ID Chr Begin End Ref Alt dbSNP Gene Class Aa change All freq Asy <60 All freq Asy >=60 All freq Hos Alleles Neg Alleles Asy <60 Alleles Asy >=60 All freq Neg Alleles Hos Homozygous Asy <60 Homozygous Asy >=60 Homozygous Hos Homozygous Neg ClinVar CADD 1 chr10 100017453 100017453 T G rs1983864 LOXL4 Nonsynonymous SNV D405A 0.355 0.354 0.33 153 417 136 0.392 97 69 27 15 28 32 2 chr10 100013438 100013438 C T rs17524355 LOXL4 Synonymous SNV A569A 0.199 0.201 0.187 69 234 77 0.177 55 24 11 4 7 15.89 3 chr1 877831 877831 T C rs6672356 SAMD11 Nonsynonymous SNV W343R 0.44 0.37 0.432 222 516 142 0.569 127 258 71 63 111 0.712 4 chr10 100144782 100144782 C T rs2296441 PYROXD2 Nonsynonymous SNV A533T 0.34 0.375 0.347 138 399 144 0.354 102 62 30 21 28 23.5 5 chr10 100018844 100018844 G A rs7077073 LOXL4 Synonymous SNV H281H 0.457 0.451 0.429 185 536 173 0.474 126 120 41 29 42 9.077 6 chr10 100020880 100020880 C T rs33995374 LOXL4 Nonsynonymous SNV R154Q 0.12 0.143 0.102 57 141 55 0.146 30 8 6 0 5 10.64 7 chr1 878314 878314 G C rs142558220 SAMD11 Synonymous SNV G480G 0.11 0.146 0.15 51 129 56 0.131 44 6 5 1 3 0.603 8 chr10 100147060 100147060 A G rs4345897 PYROXD2 Synonymous SNV F484F 0.394 0.411 0.418 162 463 158 0.415 123 80 34 31 38 5.796 9 chr1 881627 881627 G A rs2272757 NOC2L Synonymous SNV L615L 0.579 0.628 0.599 227 680 241 0.582 176 192 80 55 63 4.66 10 chr10 100219374 100219374 T A rs10883100 HPSE2 Nonsynonymous SNV Y467F 0.48 0.505 0.483 184 563 194 0.472 142 145 43 34 46 Benign 13.57 11 chr10 100190920 100190920 G A rs1801287 HPS1 Synonymous SNV L89L 0.312 0.349 0.357 130 366 134 0.333 105 49 25 22 16 Benign 11.19 12 chr1 887801 887801 A G rs3828047 NOC2L Synonymous SNV T394T 0.928 0.932 0.935 358 1089 358 0.918 275 505 168 129 164 1.404 13 chr10 100148176 100148176 A G rs2147896 PYROXD2 Nonsynonymous SNV M461T 0.399 0.411 0.422 162 469 158 0.415 124 82 34 31 38 6.131 14 chr1 881918 881918 G A rs35471880 NOC2L Nonsynonymous SNV S556L 0.064 0.07 0.034 15 75 27 0.038 10 3 1 1 1 24.1 15 chr10 100189568 100189568 C A rs11592273 HPS1 Nonsynonymous SNV G196W 0.06 0.063 0.01 26 71 24 0.067 3 2 1 0 0 Benign 16.77 16 chr10 101090428 101090428 T G rs2862600 CNNM1 Synonymous SNV V428V 0.829 0.786 0.847 322 973 302 0.826 249 404 122 106 131 0.155 17 chr1 888639 888639 T C rs3748596 NOC2L Synonymous SNV E306E 0.928 0.932 0.935 358 1089 358 0.918 275 505 168 129 164 0.04 18 chr10 101294936 101294936 C T rs113459553 NKX2-3 Synonymous SNV L185L 0.058 0.039 0.027 10 68 15 0.026 8 1 1 0 1 17.24 19 chr10 100179851 100179851 T C rs2296436 HPS1 Nonsynonymous SNV Q483R 0.107 0.094 0.116 47 126 36 0.121 34 4 2 3 0 Benign 7.774 20 chr10 101421367 101421367 G A rs61729539 ENTPD7 Nonsynonymous SNV R58Q 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 21.5 21 chr1 888659 888659 T C rs3748597 NOC2L Nonsynonymous SNV I300V 0.928 0.935 0.935 358 1090 359 0.918 275 506 169 129 164 0.004 22 chr10 100183570 100183570 G C rs2296434 HPS1 Nonsynonymous SNV P371R 0.106 0.094 0.116 45 124 36 0.115 34 3 2 3 0 Benign 24.1 23 chr10 100167396 100167396 G A rs12763326 PYROXD2 Synonymous SNV R86R 0.02 0.01 0.041 5 24 4 0.013 12 0 0 4 0 7.709 24 chr10 101445591 101445591 A C rs3740078 ENTPD7 Synonymous SNV P197P 0.214 0.224 0.194 102 251 86 0.262 57 21 9 6 13 0.035 25 chr1 897325 897325 G C rs4970441 KLHL17 Synonymous SNV A203A 0.904 0.909 0.922 355 1061 349 0.91 271 479 159 125 162 8.06 26 chr10 101293035 101293035 C A rs41290504 NKX2-3 Synonymous SNV A49A 0.483 0.508 0.537 209 567 195 0.536 158 139 51 43 55 15.6 27 chr10 101089772 101089772 C A rs112168939 CNNM1 Synonymous SNV R210R 0.037 0.018 0.02 8 43 7 0.021 6 1 0 0 0 18.38 28 chr10 101473218 101473218 A G rs2231687 COX15 Nonsynonymous SNV F374L 0.884 0.883 0.857 349 1038 339 0.895 252 457 150 106 157 Benign 10.16 29 chr10 101451259 101451259 T C rs11190245 ENTPD7 Nonsynonymous SNV V276A 0.189 0.198 0.173 94 222 76 0.241 51 16 8 6 9 10.49 30 chr1 900505 900505 G C rs28705211 KLHL17 Synonymous SNV V621V 0.279 0.237 0.265 120 328 91 0.308 78 48 17 10 17 4.173 31 chr10 100189242 100189242 G A rs34533614 HPS1 Nonsynonymous SNV P270S 0.146 0.115 0.177 63 171 44 0.162 52 13 3 7 4 3.001 32 chr1 909238 909238 G C rs3829740 PLEKHN1 Nonsynonymous SNV R452P 0.512 0.594 0.456 227 601 228 0.582 134 206 83 47 82 11.2 33 chr1 909238 909238 G C rs3829740 PLEKHN1 Nonsynonymous SNV R452P 0.198 0.151 0.187 71 232 58 0.182 55 80 20 21 31 11.2 34 chr10 100202987 100202987 A G rs58548334 HPS1 Nonsynonymous SNV V4A 0.03 0.031 0.034 10 35 12 0.026 10 2 0 0 0 Benign/Likely benign 24.5 35 chr10 100189252 100189252 G A rs1061134 HPS1 Synonymous SNV L266L 0.118 0.12 0.139 46 138 46 0.118 41 8 3 5 2 2.232 36 chr10 101147692 101147692 G A rs2298316 CNNM1 Nonsynonymous SNV R819Q 0.1 0.094 0.126 28 117 36 0.072 37 9 2 2 0 25.2 37 chr10 101544447 101544447 A T rs927344 ABCC2 Nonsynonymous SNV Y39F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 13.9 38 chr1 911595 911595 A G rs7417106 PERM1 Nonsynonymous SNV V755A 0.703 0.719 0.714 274 825 276 0.703 210 300 106 74 94 21.4 39 chr1 909309 909309 T C rs3829738 PLEKHN1 Nonsynonymous SNV S476P 0.228 0.219 0.238 103 268 84 0.264 70 32 14 10 11 0.011 40 chr10 101595996 101595996 T A rs17222723 ABCC2 Nonsynonymous SNV V1188E 0.111 0.125 0.112 54 130 48 0.138 33 4 6 4 3 Benign 0.006 41 chr10 101486759 101486759 C T rs35483721 COX15 Nonsynonymous SNV R183H 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 Benign/Likely benign 27.4 42 chr10 101166544 101166544 C T rs2234971 GOT1 Synonymous SNV A121A 0.085 0.109 0.136 38 100 42 0.097 40 5 4 4 2 15.07 43 chr1 914333 914333 C G rs13302979 PERM1 Nonsynonymous SNV E693Q 0.574 0.625 0.554 226 674 240 0.579 163 194 76 45 68 0.027 44 chr1 911916 911916 C T rs74045046 PERM1 Synonymous SNV R724R 0.175 0.148 0.17 67 206 57 0.172 50 19 6 5 3 12.08 45 chr10 101604207 101604207 C T rs3740066 ABCC2 Synonymous SNV I1324I 0.325 0.357 0.337 107 382 137 0.274 99 69 22 18 13 Benign 18.14 46 chr10 101606861 101606861 G T rs1137968 ABCC2 Synonymous SNV V1430V 0.111 0.125 0.112 54 130 48 0.138 33 4 6 4 3 Benign 0.857 47 chr1 914876 914876 T C rs13302983 PERM1 Nonsynonymous SNV S512G 0.905 0.896 0.884 349 1063 344 0.895 260 484 154 116 155 0.012 48 chr10 101610533 101610533 C T rs8187707 ABCC2 Synonymous SNV H1496H 0.111 0.125 0.112 54 130 48 0.138 33 4 6 4 3 Benign 14.69 49 chr1 914839 914839 C T rs34903276 PERM1 Nonsynonymous SNV R524Q 0.059 0.078 0.058 26 69 30 0.067 17 1 2 0 0 19.71 50 chr10 101639796 101639796 G A rs2255901 DNMBP Synonymous SNV S1072S 0.572 0.586 0.585 202 672 225 0.518 172 182 66 49 51 2.693 51 chr10 101611294 101611294 G A rs8187710 ABCC2 Nonsynonymous SNV C1515Y 0.109 0.12 0.116 54 128 46 0.138 34 5 6 4 3 Benign 15.79 52 chr1 915227 915227 A G rs13303355 PERM1 Synonymous SNV L395L 0.9 0.893 0.888 347 1057 343 0.89 261 479 154 114 154 0.273 53 chr10 101645498 101645498 T C rs2490763 DNMBP Synonymous SNV P880P 0.572 0.586 0.585 202 672 225 0.518 172 182 66 49 51 0.816 54 chr1 914852 914852 G C rs13303368 PERM1 Nonsynonymous SNV Q520E 0.564 0.617 0.568 223 662 237 0.572 167 191 75 47 66 0.001 55 chr1 935222 935222 C A rs2298214 HES4 Nonsynonymous SNV R44S 0.563 0.612 0.578 225 661 235 0.577 170 194 77 49 64 0.052 56 chr10 101689378 101689378 G C rs7077718 DNMBP Nonsynonymous SNV S381R 0.578 0.599 0.558 204 679 230 0.523 164 192 69 44 56 16.15 57 chr10 101502968 101502968 A G rs3740076 CUTC Synonymous SNV P84P 0.134 0.115 0.109 55 157 44 0.141 32 13 4 1 3 6.486 58 chr10 101544490 101544490 A G rs17222596 ABCC2 Synonymous SNV K53K 0.017 0.01 0.017 7 20 4 0.018 5 0 0 0 0 Conflicting interpretations of pathogenicity 6.783 59 chr10 101690379 101690379 A G rs10883428 DNMBP Synonymous SNV L48L 0.394 0.409 0.354 118 462 157 0.303 104 98 34 16 16 7.437 60 chr10 101639877 101639877 A C rs11190305 DNMBP Nonsynonymous SNV C1045W 0.336 0.354 0.344 112 395 136 0.287 101 71 20 19 14 3.482 61 chr1 949608 949608 G A rs1921 ISG15 Nonsynonymous SNV S83N 0.309 0.26 0.289 112 363 100 0.287 85 55 15 12 13 Benign 2.276 62 chr10 101639682 101639682 G A rs61757225 DNMBP Synonymous SNV S1110S 0.047 0.036 0.058 14 55 14 0.036 17 2 0 0 0 11.68 63 chr10 101563815 101563815 G A rs2273697 ABCC2 Nonsynonymous SNV V417I 0.221 0.203 0.204 81 259 78 0.208 60 25 6 6 3 Benign 2.478 64 chr10 101715899 101715899 G A rs2862923 DNMBP Synonymous SNV P444P 0.422 0.409 0.378 118 496 157 0.303 111 105 38 21 17 7.786 65 chr10 102116311 102116311 A C rs2234970 SCD Nonsynonymous SNV M224L 0.419 0.378 0.432 167 492 145 0.428 127 94 27 28 32 0.001 66 chr1 914940 914940 T C rs13303033 PERM1 Synonymous SNV A490A 0.561 0.609 0.554 224 659 234 0.574 163 191 74 44 67 0.423 67 chr1 949654 949654 A G rs8997 ISG15 Synonymous SNV V98V 0.862 0.875 0.881 335 1012 336 0.859 259 434 150 113 142 3.734 68 chr10 101657880 101657880 G A rs7919323 DNMBP Synonymous SNV N593N 0.338 0.357 0.333 109 397 137 0.279 98 72 20 20 13 13.22 69 chr10 102222957 102222957 G C rs3793771 WNT8B Nonsynonymous SNV C11S 0.21 0.195 0.173 64 247 75 0.164 51 27 5 5 9 11.22 70 chr1 981931 981931 A G rs2465128 AGRN Synonymous SNV S1022S 0.853 0.883 0.881 333 1002 339 0.854 259 422 150 114 144 Benign 0.009 71 chr10 101579019 101579019 A G rs76302654 ABCC2 Synonymous SNV E871E 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 Uncertain significance 0.317 72 chr10 101912064 101912064 T C rs2862954 ERLIN1 Nonsynonymous SNV I131V 0.366 0.391 0.364 150 430 150 0.385 107 76 30 19 26 13.34 73 chr1 982994 982994 T C rs10267 AGRN Synonymous SNV F1186F 0.87 0.906 0.905 338 1021 348 0.867 266 440 158 120 147 Benign 0.042 74 chr10 101645534 101645534 G A rs41290514 DNMBP Synonymous SNV T868T 0.047 0.036 0.058 14 55 14 0.036 17 2 0 0 0 13.09 75 chr10 102247408 102247408 C A rs2298075 SEC31B Nonsynonymous SNV A1169S 0.21 0.195 0.173 64 247 75 0.164 51 27 5 5 9 13.01 76 chr10 101690050 101690050 C T rs10786578 DNMBP Synonymous SNV Q157Q 0.326 0.333 0.282 127 383 128 0.326 83 60 17 10 19 2.191 77 chr1 984302 984302 T C rs9442391 AGRN Synonymous SNV T1387T 0.548 0.586 0.473 217 643 225 0.556 139 175 68 44 52 Benign 0.005 78 chr10 102089663 102089663 C T rs569511 PKD2L1 Nonsynonymous SNV C12Y 0.196 0.227 0.177 81 230 87 0.208 52 17 10 7 8 11.76 79 chr10 101964312 101964312 G A rs17880383 CHUK Synonymous SNV S486S 0.12 0.13 0.153 60 141 50 0.154 45 6 6 5 8 13.41 80 chr10 102247526 102247526 G C rs2298074 SEC31B Synonymous SNV L1129L 0.209 0.195 0.167 64 245 75 0.164 49 26 5 5 9 7.369 81 chr1 990280 990280 C T rs4275402 AGRN Synonymous SNV D2019D 0.675 0.667 0.527 258 793 256 0.662 155 275 88 58 88 Benign 12.1 82 chr10 101689389 101689389 C T rs141253564 DNMBP Nonsynonymous SNV V378M 0.025 0.036 0.037 5 29 14 0.013 11 1 1 0 0 15.32 83 chr10 101977883 101977883 C T rs2230804 CHUK Nonsynonymous SNV V268I 0.453 0.492 0.466 171 532 189 0.438 137 116 52 35 36 21.4 84 chr10 102258991 102258991 C T rs41290542 SEC31B Nonsynonymous SNV V504M 0.049 0.034 0.027 5 58 13 0.013 8 3 0 0 0 12.8 85 chr1 1007203 1007203 A G rs4633229 RNF223 Synonymous SNV D248D 0.658 0.695 0.793 290 773 267 0.744 233 304 112 92 118 0.031 86 chr10 101829514 101829514 C T rs61751507 CPN1 Nonsynonymous SNV G178D 0.071 0.047 0.048 16 83 18 0.041 14 1 0 1 0 Benign 22.7 87 chr10 101690415 101690415 G A rs11190326 DNMBP Nonsynonymous SNV L36F 0.041 0.023 0.041 13 48 9 0.033 12 1 0 0 0 5.684 88 chr1 1007222 1007222 G T rs71628928 RNF223 Nonsynonymous SNV P242H 0.159 0.164 0.16 79 187 63 0.203 47 15 6 4 9 23.2 89 chr10 102265183 102265183 G A rs2295772 SEC31B Nonsynonymous SNV P372S 0.198 0.18 0.173 53 232 69 0.136 51 21 6 6 8 8.862 90 chr1 1007432 1007432 G A rs4333796 RNF223 Nonsynonymous SNV A172V 0.537 0.555 0.592 224 631 213 0.574 174 173 61 53 60 0.014 91 chr10 101802262 101802262 G A rs61733667 CPN1 Synonymous SNV H433H 0.064 0.036 0.044 11 75 14 0.028 13 1 0 0 0 1.567 92 chr10 102265815 102265815 A G rs2295773 SEC31B Synonymous SNV H342H 0.198 0.18 0.173 53 232 69 0.136 51 21 6 6 8 1.33 93 chr1 1132938 1132938 G A rs2274791 TTLL10 Nonsynonymous SNV G578D 0.13 0.12 0.082 47 153 46 0.121 24 12 4 0 2 8.004 94 chr10 101667847 101667847 G A rs114927649 DNMBP Nonsynonymous SNV P452L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.63 95 chr10 102265847 102265847 A C rs2295774 SEC31B Nonsynonymous SNV S332A 0.197 0.18 0.167 53 231 69 0.136 49 21 6 6 8 27 96 chr1 1021346 1021346 A G rs10907177 C1orf159 Synonymous SNV I119I 0.18 0.182 0.163 84 211 70 0.215 48 19 6 4 9 0.738 97 chr1 1247494 1247494 T C rs12103 INTS11 Synonymous SNV P449P 0.779 0.849 0.833 289 914 326 0.741 245 398 142 104 115 0.004 98 chr1 1132966 1132966 C A rs2274790 TTLL10 Synonymous SNV P587P 0.131 0.12 0.082 47 154 46 0.121 24 12 4 0 2 6.119 99 chr10 101835707 101835707 T C rs771919204 CPN1 Synonymous SNV P127P 0.009 0.013 0 7 11 5 0.018 0 0 0 0 0 1.037 100 chr10 102269085 102269085 C A rs3793706 SEC31B Nonsynonymous SNV L129F 0.196 0.182 0.173 53 230 70 0.136 51 21 6 6 8 11.35 101 chr10 102056809 102056809 G T rs61730887 PKD2L1 Synonymous SNV I324I 0.028 0.039 0.024 7 33 15 0.018 7 1 0 0 0 9.131 102 chr1 1249187 1249187 G A rs12142199 INTS11 Synonymous SNV F196F 0.823 0.857 0.837 303 966 329 0.777 246 398 141 104 116 14.15 103 chr1 1133077 1133077 A G rs2274789 TTLL10 Synonymous SNV P624P 0.212 0.195 0.194 83 249 75 0.213 57 38 12 7 8 4.21 104 chr1 1254841 1254841 C G rs10907179 INTS11 Synonymous SNV G88G 0.929 0.945 0.918 345 1091 363 0.885 270 505 171 125 152 11.19 105 chr1 1147422 1147422 C T rs17568 TNFRSF4 Synonymous SNV E178E 0.213 0.193 0.19 86 250 74 0.221 56 28 8 1 7 Benign 7.491 106 chr10 102295836 102295836 C G rs2295778 HIF1AN Nonsynonymous SNV P41A 0.263 0.284 0.279 98 309 109 0.251 82 46 16 9 16 12.15 107 chr10 102269206 102269206 A G rs3763695 SEC31B Nonsynonymous SNV V89A 0.196 0.182 0.173 53 230 70 0.136 51 21 6 6 8 16.64 108 chr1 1262966 1262966 C T rs307349 CPTP Synonymous SNV R156R 0.925 0.94 0.925 346 1086 361 0.887 272 502 169 126 153 6.75 109 chr10 101716112 101716112 G C rs35924554 DNMBP Nonsynonymous SNV N373K 0.049 0.039 0.048 13 57 15 0.033 14 1 0 1 0 0.006 110 chr1 1158631 1158631 A G rs6603781 SDF4 Synonymous SNV D190D 0.869 0.852 0.888 341 1020 327 0.874 261 442 143 115 149 0.106 111 chr1 1269554 1269554 T C rs307377 TAS1R3 Nonsynonymous SNV C757R 0.963 0.977 0.959 369 1130 375 0.946 282 544 183 135 174 0.001 112 chr10 102568983 102568983 A C rs1800898 PAX2 Synonymous SNV P303P 0.39 0.328 0.374 140 458 126 0.359 110 80 18 17 25 Benign 0.002 113 chr1 1226757 1226757 G A rs6690013 SCNN1D Nonsynonymous SNV G726S 0.054 0.039 0.054 30 63 15 0.077 16 2 0 0 0 7.966 114 chr10 102684380 102684380 C A rs10883563 SLF2 Nonsynonymous SNV S541Y 0.604 0.573 0.588 221 709 220 0.567 173 215 69 49 56 24.5 115 chr1 1277533 1277533 T C rs307362 DVL1 Synonymous SNV P122P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.107 116 chr1 1226889 1226889 G A rs609805 SCNN1D Nonsynonymous SNV G770R 0.052 0.034 0.048 28 61 13 0.072 14 1 0 0 0 3.694 117 chr1 1551927 1551927 T C rs7418389 MIB2 Nonsynonymous SNV F15L 0.767 0.781 0.762 298 901 300 0.764 224 373 126 84 120 0.005 118 chr10 102269201 102269201 C T rs150176119 SEC31B Nonsynonymous SNV G91S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 34 119 chr10 102744376 102744376 T C rs11190780 SEMA4G Nonsynonymous SNV M612T 0.139 0.13 0.088 54 163 50 0.138 26 12 7 0 4 0.082 120 chr10 102721657 102721657 A C rs746914251 SLF2 Synonymous SNV V1170V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 121 chr10 102734778 102734778 C G rs4919510 MIR608 0 0 0.184 0 0 0 0 54 0 0 6 0 3.008 122 chr1 1231507 1231507 G A rs619608 MIR6726 0.058 0.039 0.061 31 68 15 0.079 18 2 0 0 0 0.983 123 chr10 102738766 102738766 T C rs118166648 SEMA4G Synonymous SNV R268R 0.049 0.049 0.068 19 57 19 0.049 20 1 0 0 1 0.026 124 chr1 1558792 1558792 T C rs12755088 MIB2 Nonsynonymous SNV M45T 0.966 0.958 0.83 381 1134 368 0.977 244 553 179 119 187 0.012 125 chr10 102744331 102744331 A T rs11591349 SEMA4G Nonsynonymous SNV D597V 0.45 0.443 0.483 167 528 170 0.428 142 120 37 32 34 14.66 126 chr1 1231656 1231656 G A rs1749951 ACAP3 Synonymous SNV L448L 0.04 0.023 0.051 23 47 9 0.059 15 2 0 0 0 4.009 127 chr10 102746503 102746503 C T rs2863095 MRPL43 Synonymous SNV V156V 0.204 0.198 0.197 87 239 76 0.223 58 21 12 6 7 7.282 128 chr1 1597268 1597268 C T rs762669423 SLC35E2B Nonsynonymous SNV D391N 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 16.39 129 chr10 102766574 102766574 A G rs807024 LZTS2 Synonymous SNV A333A 0.222 0.232 0.187 96 261 89 0.246 55 34 19 5 12 3.929 130 chr10 102770082 102770082 T G rs807023 PDZD7 Nonsynonymous SNV N855T 0.817 0.799 0.816 326 959 307 0.836 240 389 121 98 138 Benign 11.38 131 chr1 1647814 1647814 T C rs72901775 CDK11A, CDK11B Synonymous SNV E143E 0.5 0.503 0.497 195 587 193 0.5 146 0 1 0 0 5.531 132 chr10 102707526 102707526 A G rs12780429 SLF2 Synonymous SNV R1014R 0.019 0.016 0.048 7 22 6 0.018 14 1 0 1 0 9.335 133 chr1 1268387 1268387 C T rs142857537 TAS1R3 Synonymous SNV Y454Y 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 6.746 134 chr10 102770293 102770293 - GCTGCG rs200896335 PDZD7 S784_S785insRS 0.45 0.43 0.384 170 528 165 0.436 113 124 36 30 41 135 chr10 102056745 102056745 C T rs2278842 PKD2L1 Nonsynonymous SNV V346I 0.067 0.078 0.065 20 79 30 0.051 19 2 1 1 1 18.76 136 chr10 102770327 102770327 A G rs807022 PDZD7 Synonymous SNV R773R 0.796 0.773 0.707 324 934 297 0.831 208 381 118 89 138 Benign 15.78 137 chr1 1647871 1647871 T C rs72909014 CDK11A, CDK11B Synonymous SNV R124R 0.5 0.503 0.5 195 587 193 0.5 147 0 1 0 0 0.149 138 chr1 1647893 1647893 - TTTCTT rs144636354 CDK11A, CDK11B E116_R117insKE 0.5 0.503 0.5 195 587 193 0.5 147 0 1 0 0 139 chr10 102824349 102824349 G C rs807037 KAZALD1 Nonsynonymous SNV G117A 0.687 0.664 0.677 233 807 255 0.597 199 264 85 71 69 10.23 140 chr10 102778936 102778936 C G PDZD7 Nonsynonymous SNV E323Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 141 chr10 102770502 102770502 G A rs143414291 PDZD7 Nonsynonymous SNV P715L 0.014 0.021 0.01 6 16 8 0.015 3 1 0 0 0 Benign/Likely benign 19.36 142 chr10 102768234 102768234 C T rs72838683 PDZD7 Nonsynonymous SNV R1031H 0.054 0.039 0.01 13 63 15 0.033 3 5 0 0 0 Benign 3.053 143 chr1 1650787 1650787 T C rs1137003 CDK11A, CDK11B Nonsynonymous SNV H112R 0.5 0.503 0.405 195 587 193 0.5 119 0 1 0 0 7.684 144 chr10 102988345 102988345 G A rs941909 LBX1 Synonymous SNV R76R 0.2 0.159 0.214 65 235 61 0.167 63 28 2 9 6 10.13 145 chr1 1479333 1479333 A G rs7533 SSU72 Synonymous SNV P133P 0.276 0.245 0.306 121 324 94 0.31 90 45 15 12 21 0.002 146 chr10 103340056 103340056 G A rs3730477 POLL Nonsynonymous SNV R163W 0.205 0.201 0.241 92 241 77 0.236 71 27 8 9 15 24.2 147 chr1 1650797 1650797 A G rs1059830 CDK11A, CDK11B Nonsynonymous SNV W109R 0.5 0.503 0.432 195 587 193 0.5 127 0 1 0 0 15.69 148 chr10 103454402 103454402 A T rs61382490 FBXW4 Nonsynonymous SNV V154E 0.19 0.18 0.153 90 223 69 0.231 45 24 5 7 15 Benign 7.907 149 chr10 103558701 103558701 G A rs17697840 OGA Synonymous SNV Y516Y 0.09 0.146 0.088 35 106 56 0.09 26 5 6 1 2 4.836 150 chr1 1650801 1650801 T C rs1137004 CDK11A, CDK11B Synonymous SNV E107E 0.5 0.503 0.442 195 587 193 0.5 130 0 1 0 0 15.88 151 chr10 103340144 103340144 A G rs3730476 POLL Synonymous SNV S133S 0.263 0.253 0.289 101 309 97 0.259 85 38 12 12 15 0.995 152 chr10 103577726 103577726 G A rs41291488 OGA Synonymous SNV S18S 0.09 0.146 0.065 36 106 56 0.092 19 5 6 1 2 12.1 153 chr1 1650807 1650807 T C rs1137005 CDK11A, CDK11B Synonymous SNV R105R 0.491 0.495 0.483 193 577 190 0.495 142 0 0 0 0 15.77 154 chr10 103361088 103361088 C T rs7874 DPCD Nonsynonymous SNV T20I 0.204 0.195 0.245 92 240 75 0.236 72 27 7 10 15 11.5 155 chr10 103825747 103825747 G A rs3737243 HPS6 Synonymous SNV G172G 0.07 0.091 0.054 37 82 35 0.095 16 3 0 0 0 Benign 0.396 156 chr10 103368654 103368654 T C rs7006 DPCD Nonsynonymous SNV L167S 0.275 0.276 0.32 122 323 106 0.313 94 42 16 16 23 1.734 157 chr1 1650832 1650832 A G rs72909030 CDK11A, CDK11B Nonsynonymous SNV V97A 0.5 0.503 0.486 195 587 193 0.5 143 0 1 0 0 17.61 158 chr10 103991381 103991381 G A rs2281983 PITX3 Synonymous SNV I95I 0.591 0.576 0.537 240 694 221 0.615 158 201 68 46 75 Benign 19.47 159 chr1 1597351 1597351 C T rs796387531 SLC35E2B Nonsynonymous SNV G363E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 160 chr10 103899659 103899659 A G rs61756436 PPRC1 Nonsynonymous SNV K465R 0.019 0.018 0.003 12 22 7 0.031 1 0 0 0 0 23.8 161 chr10 104136469 104136469 T C rs2180707 GBF1 Synonymous SNV I1400I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.288 162 chr1 1650845 1650845 G A rs1059831 CDK11A, CDK11B Nonsynonymous SNV R93W 0.489 0.497 0.497 193 574 191 0.495 146 0 0 0 0 34 163 chr10 103454329 103454329 G C rs61761937 FBXW4 Synonymous SNV A178A 0.052 0.049 0.048 21 61 19 0.054 14 2 2 0 0 Benign/Likely benign 8.842 164 chr10 104157078 104157078 C T rs780372837 NFKB2 Synonymous SNV L139L 0.008 0.016 0 6 9 6 0.015 0 0 0 0 0 10.49 165 chr10 103900729 103900729 G A rs61731871 PPRC1 Nonsynonymous SNV V822I 0.109 0.156 0.088 43 128 60 0.11 26 7 7 1 5 3.542 166 chr10 104159196 104159196 A G rs4919633 NFKB2 Synonymous SNV P423P 0.996 1 0.976 385 1169 384 0.987 287 584 192 143 192 Benign 0.151 167 chr1 1684347 1684347 - CCT rs150880809 NADK E413_G414insE 0.414 0.492 0.374 160 486 189 0.41 110 91 44 19 27 168 chr10 103900991 103900991 T C rs143292683 PPRC1 Nonsynonymous SNV V909A 0.011 0.005 0.02 6 13 2 0.015 6 0 0 0 0 18.64 169 chr10 104160434 104160434 A G rs4919634 NFKB2 Synonymous SNV A607A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 2.28 170 chr1 1684472 1684472 C T rs7407 NADK Synonymous SNV P372P 0.454 0.536 0.422 178 533 206 0.456 124 122 52 26 36 18.83 171 chr10 103907055 103907055 C T rs34169738 PPRC1 Nonsynonymous SNV R1316W 0.039 0.07 0.024 13 46 27 0.033 7 0 2 0 1 25.5 172 chr10 104174895 104174895 G A rs2282295 PSD Synonymous SNV Y283Y 0.054 0.06 0.068 30 63 23 0.077 20 0 2 0 0 0.05 173 chr1 1848008 1848008 C T rs35804144 CALML6 Synonymous SNV P52P 0.01 0.01 0.007 7 12 4 0.018 2 0 0 0 0 Benign 13.51 174 chr10 104229785 104229785 C T rs41306870 MFSD13A Synonymous SNV P68P 0.594 0.609 0.534 240 697 234 0.615 157 220 74 43 69 16.29 175 chr10 104184081 104184081 G A rs1044476 CUEDC2 Synonymous SNV P117P 0.185 0.195 0.17 64 217 75 0.164 50 19 8 5 5 1.625 176 chr1 1849529 1849529 A G rs28640257 TMEM52 Nonsynonymous SNV M141T 0.453 0.505 0.429 174 532 194 0.446 126 116 45 23 36 0.641 177 chr10 104215134 104215134 T C RPARP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.174 178 chr10 104231054 104231054 A G rs11191295 MFSD13A Synonymous SNV V243V 0.594 0.612 0.48 239 697 235 0.613 141 220 74 41 69 11.07 179 chr10 104117859 104117859 C T rs773687708 GBF1 Nonsynonymous SNV R235W 0.008 0.003 0 0 9 1 0 0 0 0 0 0 35 180 chr10 103920475 103920475 T C rs1049455 NOLC1 Nonsynonymous SNV S466P 0.149 0.203 0.133 60 175 78 0.154 39 12 10 4 7 1.133 181 chr10 104230437 104230437 C G rs3740416 MFSD13A Synonymous SNV L89L 0.106 0.133 0.129 46 125 51 0.118 38 9 5 6 5 11.36 182 chr10 104572963 104572963 T C rs284860 WBP1L Nonsynonymous SNV S323P 0.612 0.523 0.541 225 719 201 0.577 159 221 54 48 67 15.56 183 chr1 1850628 1850636 AGCGGCAGG - rs575852588 TMEM52 L24_L26del 0.359 0.388 0.031 139 422 149 0.356 9 104 40 4 31 184 chr10 104386934 104386934 T C rs17114803 SUFU Synonymous SNV I433I 0.089 0.125 0.126 42 105 48 0.108 37 5 5 4 4 Benign 11.17 185 chr1 1854109 1854109 A G rs2803348 CFAP74 Synonymous SNV S1579S 0.51 0.568 0.503 205 599 218 0.526 148 151 56 36 50 3.908 186 chr10 104596924 104596924 C A rs6163 CYP17A1 Synonymous SNV S65S 0.399 0.477 0.473 165 469 183 0.423 139 96 44 38 37 Benign 12.94 187 chr10 104573017 104573017 G T rs284859 WBP1L Nonsynonymous SNV A341S 0.18 0.146 0.18 58 211 56 0.149 53 20 7 5 6 7.182 188 chr10 104596981 104596981 G A rs6162 CYP17A1 Synonymous SNV H46H 0.434 0.505 0.52 175 509 194 0.449 153 110 48 42 40 Benign 7.939 189 chr1 1861582 1861582 C T rs2803295 CFAP74 Nonsynonymous SNV G1069R 0.453 0.5 0.432 174 532 192 0.446 127 116 44 24 35 25.9 190 chr10 104638723 104638723 T C rs11191439 AS3MT Nonsynonymous SNV M287T 0.111 0.182 0.156 48 130 70 0.123 46 11 6 6 4 0.007 191 chr1 1873514 1873514 A G rs2803326 CFAP74 Synonymous SNV Y856Y 0.497 0.557 0.493 197 583 214 0.505 145 140 55 32 42 0.009 192 chr10 104160959 104160959 C T rs11574851 NFKB2 Synonymous SNV N698N 0.037 0.031 0.048 12 44 12 0.031 14 0 0 1 1 Benign 16.51 193 chr10 104210735 104210735 C A rs2281878 C10orf95 Nonsynonymous SNV S39I 0.147 0.148 0.116 71 172 57 0.182 34 19 10 5 6 17.57 194 chr10 104416689 104416689 T C TRIM8 Nonsynonymous SNV S380P 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 15.81 195 chr10 104660256 104660256 G A rs10748835 LOC107984265 0.422 0.516 0.412 166 496 198 0.426 121 113 50 36 41 1.006 196 chr1 1873525 1873525 T C rs2803327 CFAP74 Nonsynonymous SNV K853E 0.497 0.557 0.493 197 583 214 0.505 145 140 55 32 42 3.493 197 chr10 1046712 1046712 G A rs2306409 GTPBP4 Synonymous SNV A250A 0.498 0.503 0.486 189 585 193 0.485 143 157 45 36 42 9.513 198 chr10 104814162 104814162 T C rs2275271 CNNM2 Synonymous SNV S614S 0.44 0.526 0.531 175 517 202 0.449 156 113 50 40 41 Benign 4.003 199 chr10 104835919 104835919 C T rs943037 CNNM2 Synonymous SNV A748A 0.116 0.156 0.133 48 136 60 0.123 39 8 4 4 3 Benign 17.62 200 chr1 1875858 1875858 C G rs2803336 CFAP74 Nonsynonymous SNV V800L 0.452 0.505 0.425 176 531 194 0.451 125 114 47 21 36 23 201 chr10 1046704 1046704 C T rs199736710 GTPBP4 Nonsynonymous SNV R248C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 35 202 chr10 104849468 104849468 G A rs3740387 NT5C2 Synonymous SNV D358D 0.436 0.518 0.51 172 512 199 0.441 150 112 50 41 41 Benign 10.11 203 chr1 1663960 1663960 G A rs147265331 SLC35E2A Synonymous SNV V245V 0.009 0.01 0.01 5 11 4 0.013 3 0 0 0 1 0.098 204 chr1 1875859 1875859 A G rs2803337 CFAP74 Synonymous SNV D799D 0.452 0.505 0.429 177 531 194 0.454 126 114 47 22 36 0.019 205 chr10 104404416 104404416 C G rs140859541 TRIM8 Nonsynonymous SNV I14M 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 16.72 206 chr10 104934709 104934709 T C rs10883841 NT5C2 Nonsynonymous SNV T3A 0.135 0.112 0.15 52 158 43 0.133 44 11 1 3 5 Benign 15.67 207 chr1 1887245 1887245 G A rs28575980 CFAP74 Synonymous SNV A687A 0.29 0.242 0.211 127 341 93 0.326 62 48 10 8 23 0.773 208 chr10 105128134 105128134 T G rs10883859 TAF5 Nonsynonymous SNV S130A 0.326 0.253 0.279 135 383 97 0.346 82 53 18 11 21 12.4 209 chr10 105110740 105110740 - GGAGGC rs113359610 PCGF6 P28_V29insPP 0.47 0.583 0.473 184 552 224 0.472 139 147 75 39 46 210 chr1 1686040 1686040 G T rs4751 NADK Nonsynonymous SNV N230K 0.458 0.398 0.48 174 538 153 0.446 141 123 24 36 36 0.815 211 chr1 1888193 1888193 C A rs3820011 CFAP74 Nonsynonymous SNV G628C 0.307 0.26 0.228 133 360 100 0.341 67 54 12 8 24 22 212 chr10 105154089 105154089 A G rs7911488 MIR1307 0 0 0.337 0 0 0 0 99 0 0 17 0 14.16 213 chr10 105194086 105194086 C T rs2986014 PDCD11 Nonsynonymous SNV L1216F 0.436 0.471 0.401 158 512 181 0.405 118 108 44 24 27 13.44 214 chr10 105218252 105218252 A G rs2986017 CALHM1 Nonsynonymous SNV L86P 0.745 0.737 0.663 304 875 283 0.779 195 330 105 64 121 0.327 215 chr1 1896440 1896440 G A rs16824585 CFAP74 Synonymous SNV L488L 0.252 0.214 0.201 107 296 82 0.274 59 42 6 4 12 1.162 216 chr10 105205302 105205302 A C rs7831 PDCD11 Nonsynonymous SNV D1871A 0.402 0.435 0.357 149 472 167 0.382 105 93 39 17 24 25.6 217 chr10 105174869 105174869 G A rs2271750 PDCD11 Synonymous SNV P493P 0.142 0.208 0.173 63 167 80 0.162 51 18 9 4 4 14.04 218 chr1 1900106 1900106 - CTC rs145742571 CFAP74 K404_K405insE 0.253 0.216 0.194 108 297 83 0.277 57 45 7 4 13 219 chr10 105218254 105218254 C T rs4918016 CALHM1 Synonymous SNV P85P 0.272 0.221 0.235 121 319 85 0.31 69 37 13 10 17 5.398 220 chr1 1900232 1900232 T C rs16824588 CFAP74 Nonsynonymous SNV I363V 0.496 0.451 0.493 193 582 173 0.495 145 141 38 36 43 3.08 221 chr10 105209515 105209515 C T rs201771304 CALHM2 Nonsynonymous SNV G62S 0.008 0.016 0 6 9 6 0.015 0 0 0 0 0 26.3 222 chr10 105218359 105218359 T C rs2986018 CALHM1 Synonymous SNV A50A 0.759 0.753 0.673 307 891 289 0.787 198 344 111 65 124 0.009 223 chr10 105233110 105233110 C T rs2986035 CALHM3 Nonsynonymous SNV D299N 0.741 0.75 0.656 296 870 288 0.759 193 327 111 61 116 12.59 224 chr1 1916890 1916890 C T rs3795280 CFAP74 Synonymous SNV L145L 0.34 0.336 0.303 142 399 129 0.364 89 73 25 10 30 8.544 225 chr10 104140350 104140350 G A rs11191274 GBF1 Nonsynonymous SNV G1690S 0.077 0.068 0.088 39 90 26 0.1 26 4 2 4 2 0.013 226 chr1 1960674 1960674 C T rs28408173 GABRD Synonymous SNV S272S 0.124 0.135 0.105 47 146 52 0.121 31 15 4 2 2 Benign 10.6 227 chr10 105344756 105344756 T C rs2236209 NEURL1 Synonymous SNV P371P 0.555 0.536 0.48 217 652 206 0.556 141 189 53 36 59 0.118 228 chr1 1961466 1961466 C T rs28398772 GABRD Synonymous SNV A368A 0.03 0.039 0.037 19 35 15 0.049 11 2 0 1 0 Benign 18.9 229 chr10 105361816 105361816 T G rs4918031 SH3PXD2A Synonymous SNV I934I 0.817 0.841 0.776 337 959 323 0.864 228 395 135 87 146 1.258 230 chr10 105177645 105177645 G T rs11598673 PDCD11 Nonsynonymous SNV A623S 0.095 0.049 0.051 43 111 19 0.11 15 5 1 1 3 9.666 231 chr10 105331362 105331362 C T rs41287508 NEURL1 Synonymous SNV P144P 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 16.21 232 chr1 2340200 2340200 T C rs2494598 PEX10 Synonymous SNV T97T 0.8 0.82 0.752 308 939 315 0.79 221 377 129 79 119 Benign 0.005 233 chr10 105362209 105362209 T C rs4917396 SH3PXD2A Synonymous SNV K803K 0.847 0.872 0.806 352 994 335 0.903 237 424 143 94 160 0.048 234 chr1 2426313 2426313 G A rs79885852 PLCH2 Nonsynonymous SNV V533M 0.009 0.008 0.003 13 10 3 0.033 1 0 0 0 0 7.228 235 chr10 104836853 104836853 C T rs35647154 CNNM2 Synonymous SNV D826D 0.084 0.146 0.112 31 99 56 0.079 33 7 4 2 1 Benign 15.53 236 chr10 105362104 105362104 G A rs11191741 SH3PXD2A Synonymous SNV F838F 0.417 0.471 0.425 165 489 181 0.423 125 106 42 23 36 0.304 237 chr10 105657316 105657316 G C rs10786775 STN1 Nonsynonymous SNV S248C 0.857 0.885 0.888 344 1006 340 0.882 261 428 152 121 154 0.521 238 chr1 2430617 2430617 C T rs2296442 PLCH2 Synonymous SNV I816I 0.497 0.466 0.493 201 583 179 0.515 145 134 42 38 49 13.48 239 chr10 105362179 105362179 G A rs3740473 SH3PXD2A Synonymous SNV R813R 0.111 0.13 0.102 58 130 50 0.149 30 9 5 2 4 1.428 240 chr10 105344451 105344451 G A rs11191737 NEURL1 Nonsynonymous SNV G270S 0.253 0.266 0.194 98 297 102 0.251 57 36 18 5 17 3.605 241 chr10 105659826 105659826 T C rs2487999 STN1 Nonsynonymous SNV T151A 0.857 0.885 0.898 345 1006 340 0.885 264 428 152 121 154 1.777 242 chr1 2433900 2433900 C T rs12736998 PLCH2 Nonsynonymous SNV P977L 0.448 0.422 0.473 183 526 162 0.469 139 147 46 41 52 6.02 243 chr10 105177602 105177602 A G rs376327855 PDCD11 Synonymous SNV L608L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 244 chr10 104636737 104636737 C T rs374230034 AS3MT Synonymous SNV D185D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.47 245 chr1 2435768 2435768 G A rs201413432 PLCH2 Nonsynonymous SNV D1123N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.14 246 chr10 105796819 105796819 A G rs2476958 COL17A1 Synonymous SNV I1087I 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 6.823 247 chr10 105362287 105362287 C G rs3740472 SH3PXD2A Synonymous SNV L777L 0.114 0.133 0.102 58 134 51 0.149 30 9 5 2 4 0.082 248 chr10 105798872 105798872 T C rs2274100 COL17A1 Synonymous SNV P968P 0.818 0.818 0.765 301 960 314 0.772 225 398 125 84 114 Benign 0.198 249 chr1 2441358 2441358 T C rs2494620 PANK4 Nonsynonymous SNV Q684R 0.253 0.242 0.221 97 297 93 0.249 65 37 16 5 15 0.016 250 chr10 105799216 105799216 G T rs2296219 COL17A1 Synonymous SNV P961P 0.815 0.815 0.765 300 957 313 0.769 225 397 125 84 113 Benign 9.454 251 chr10 105209245 105209245 G C CALHM2 Nonsynonymous SNV H152D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.79 252 chr10 105801253 105801253 G A rs4918079 COL17A1 Synonymous SNV R865R 0.815 0.818 0.762 300 957 314 0.769 224 394 125 84 113 Benign 14.64 253 chr10 105657363 105657363 C G rs11191853 STN1 Synonymous SNV V232V 0.218 0.224 0.18 105 256 86 0.269 53 33 13 6 14 13.01 254 chr1 2444414 2444414 G A rs7535528 PANK4 Nonsynonymous SNV A547V 0.388 0.401 0.429 177 456 154 0.454 126 97 27 22 37 22.6 255 chr10 105810400 105810400 T C rs805722 COL17A1 Nonsynonymous SNV M703V 0.801 0.758 0.741 300 940 291 0.769 218 380 105 81 113 Benign 0.002 256 chr1 1957037 1957037 T C rs2229110 GABRD Synonymous SNV G110G 0.686 0.651 0.673 265 805 250 0.679 198 277 80 67 89 Benign 3.837 257 chr1 2452569 2452569 T C rs2985862 PANK4 Synonymous SNV K131K 0.765 0.737 0.772 307 898 283 0.787 227 347 102 92 117 3.103 258 chr1 2338015 2338015 T C rs34154371 PEX10 Nonsynonymous SNV T274A 0.038 0.026 0.037 18 45 10 0.046 11 2 0 0 1 Benign/Likely benign 16.87 259 chr10 105816916 105816916 C T rs805698 COL17A1 Nonsynonymous SNV G428S 0.984 0.987 0.98 378 1155 379 0.969 288 568 187 142 183 Benign 6.68 260 chr1 2488153 2488153 A G rs4870 TNFRSF14 Nonsynonymous SNV K17R 0.473 0.477 0.425 193 555 183 0.495 125 135 40 26 43 not provided 1.198 261 chr10 105819956 105819956 G A rs805701 COL17A1 Synonymous SNV A354A 0.673 0.625 0.592 250 790 240 0.641 174 268 69 55 75 Benign 11.59 262 chr1 2526746 2526746 A G rs3748816 MMEL1 Nonsynonymous SNV M518T 0.312 0.276 0.276 130 366 106 0.333 81 53 9 7 20 0.001 263 chr10 105824333 105824333 G A rs805708 COL17A1 Nonsynonymous SNV T210M 0.687 0.651 0.612 259 807 250 0.664 180 280 74 59 84 Benign 23.2 264 chr10 105758670 105758670 A G rs10883960 SLK Synonymous SNV V176V 0.274 0.258 0.218 110 322 99 0.282 64 45 16 7 13 11.37 265 chr10 105824290 105824290 G A rs137868472 COL17A1 Synonymous SNV T224T 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 2.285 266 chr10 105763026 105763026 C T rs3740469 SLK Nonsynonymous SNV T697I 0.274 0.258 0.231 110 322 99 0.282 68 45 16 8 13 8.538 267 chr1 2535613 2535613 C A rs4648562 MMEL1 Synonymous SNV V308V 0.289 0.245 0.269 120 339 94 0.308 79 50 9 7 16 10.93 268 chr10 1060218 1060218 G A rs3207775 GTPBP4 Nonsynonymous SNV R525H 0.146 0.128 0.136 61 171 49 0.156 40 12 4 2 4 20.5 269 chr10 105763178 105763178 A C rs142780049 SLK Nonsynonymous SNV N748H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9 270 chr1 2541269 2541269 A G rs10797440 MMEL1 Synonymous SNV A98A 0.312 0.276 0.279 131 366 106 0.336 82 53 9 7 20 12.64 271 chr10 105882765 105882765 A G rs10786783 SFR1 Nonsynonymous SNV D19G 0.114 0.133 0.153 41 134 51 0.105 45 11 4 6 2 10.34 272 chr10 105793750 105793750 T C rs17116350 COL17A1 Nonsynonymous SNV D1370G 0.279 0.266 0.259 117 328 102 0.3 76 49 18 16 17 Benign 7.551 273 chr1 2560882 2560882 G A rs4648658 MMEL1 Synonymous SNV A14A 0.685 0.716 0.69 260 804 275 0.667 203 274 95 70 85 9.577 274 chr10 106022789 106022789 C A rs4925 GSTO1 Nonsynonymous SNV A112D 0.304 0.315 0.378 121 357 121 0.31 111 78 32 22 24 22 275 chr10 105927460 105927460 C T rs17750886 CFAP43 Synonymous SNV P909P 0.139 0.18 0.136 62 163 69 0.159 40 15 6 4 3 13.87 276 chr1 2560903 2560903 T G rs4648659 MMEL1 Synonymous SNV P7P 0.699 0.724 0.697 268 821 278 0.687 205 287 98 72 89 0.133 277 chr1 2573199 2573199 A G rs4648662 TTC34 Synonymous SNV L950L 0.896 0.922 0.888 348 1052 354 0.892 261 474 164 115 156 0.884 278 chr10 106039185 106039185 A G rs156697 GSTO2 Nonsynonymous SNV N114D 0.382 0.391 0.422 158 448 150 0.405 124 83 32 30 32 2.608 279 chr1 2938887 2938887 G A rs61745278 ACTRT2 Nonsynonymous SNV V213M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 280 chr10 106028154 106028154 G A rs45596840 MIR4482 0 0 0.378 0 0 0 0 111 0 0 22 0 4.526 281 chr10 1061767 1061767 G A rs2306405 GTPBP4 Synonymous SNV P561P 0.146 0.128 0.136 61 171 49 0.156 40 12 4 2 4 7.204 282 chr10 106028157 106028157 G T rs641071 MIR4482 0 0 0.442 0 0 0 0 130 0 0 31 0 4.186 283 chr1 3328358 3328358 T C rs870124 PRDM16 Nonsynonymous SNV S533P 0.913 0.88 0.806 342 1072 338 0.877 237 490 147 97 150 Benign 0.172 284 chr10 1066710 1066710 C T rs34407608 IDI2 Synonymous SNV E121E 0.151 0.13 0.136 65 177 50 0.167 40 12 4 2 4 6.186 285 chr10 106152111 106152111 T A rs11192036 CFAP58 Nonsynonymous SNV S496T 0.184 0.203 0.18 85 216 78 0.218 53 25 12 9 9 20.6 286 chr10 105363289 105363289 T C rs3740471 SH3PXD2A Synonymous SNV A443A 0.164 0.138 0.143 93 192 53 0.238 42 18 1 2 12 0.008 287 chr1 2938989 2938989 G A rs3795263 ACTRT2 Nonsynonymous SNV G247R 0.256 0.271 0.214 96 301 104 0.246 63 38 13 8 14 25.6 288 chr10 106907440 106907440 C T rs791125 SORCS3 Synonymous SNV N456N 0.499 0.469 0.503 192 586 180 0.492 148 139 41 43 41 14.51 289 chr1 3383898 3383898 A G rs6424078 ARHGEF16 Synonymous SNV P267P 0.927 0.938 0.922 368 1088 360 0.944 271 504 170 124 174 0.079 290 chr10 1065457 1065457 T A rs41314629 IDI2 X228C 0.048 0.029 0.027 20 56 11 0.051 8 1 0 1 0 15.46 291 chr10 108924150 108924150 G C rs61732174 SORCS1 Synonymous SNV S45S 0.032 0.026 0.037 13 37 10 0.033 11 2 1 1 2 8.071 292 chr1 3389727 3389727 C T rs2185639 ARHGEF16 Nonsynonymous SNV H370Y 0.858 0.878 0.864 342 1007 337 0.877 254 433 148 111 151 10.9 293 chr10 1068639 1068639 C T rs13377037 IDI2 Synonymous SNV T73T 0.085 0.078 0.085 26 100 30 0.067 25 1 0 3 1 12.28 294 chr10 108380213 108380213 G A rs4917481 SORCS1 Synonymous SNV Y923Y 0.171 0.185 0.133 66 201 71 0.169 39 12 6 1 5 8.135 295 chr10 112266822 112266822 G A rs1889566 DUSP5 Nonsynonymous SNV A220T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 21.2 296 chr10 108389111 108389111 A G rs3802553 SORCS1 Synonymous SNV F837F 0.096 0.099 0.095 36 113 38 0.092 28 2 2 0 3 4.007 297 chr10 1081293 1081293 G T rs3793781 IDI2-AS1 0 0 0.075 0 0 0 0 22 0 0 2 0 1.657 298 chr1 3394456 3394456 T C rs4638054 ARHGEF16 Synonymous SNV S497S 0.999 1 0.993 388 1173 384 0.995 292 586 192 145 193 0.078 299 chr10 1081791 1081791 - CCTGGCCCA rs146706331 IDI2-AS1 0 0 0.167 0 0 0 0 49 0 0 2 0 300 chr1 3328659 3328659 C T rs2493292 PRDM16 Nonsynonymous SNV P633L 0.239 0.221 0.173 64 281 85 0.164 51 26 9 2 5 Benign 23 301 chr1 3395039 3395039 G A rs10797395 ARHGEF16 Synonymous SNV V559V 0.859 0.852 0.854 339 1009 327 0.869 251 431 140 108 146 3.824 302 chr10 1089616 1089616 T C rs11250238 IDI2-AS1 0 0 0.847 0 0 0 0 249 0 0 103 0 0.883 303 chr10 112266823 112266823 C T rs1889565 DUSP5 Nonsynonymous SNV A220V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 23.7 304 chr10 111987960 111987960 C T rs61745504 MXI1 Synonymous SNV G29G 0.108 0.112 0.088 40 127 43 0.103 26 6 5 1 2 12.84 305 chr1 3413868 3413868 C G rs4648506 MEGF6 Nonsynonymous SNV G1137A 0.315 0.331 0.286 153 370 127 0.392 84 60 17 15 35 22.7 306 chr10 105762591 105762591 G A rs805657 SLK Nonsynonymous SNV C552Y 0.164 0.185 0.201 83 193 71 0.213 59 13 4 5 8 0.002 307 chr10 112058426 112058426 T C rs2233934 SMNDC1 Synonymous SNV A81A 0.108 0.112 0.085 40 127 43 0.103 25 6 5 1 2 7.964 308 chr10 112361870 112361870 A G rs2419565 SMC3 Synonymous SNV S1013S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.087 309 chr10 112266771 112266771 C T rs1889567 DUSP5 Synonymous SNV L203L 0.328 0.286 0.252 157 385 110 0.403 74 68 16 7 23 12.2 310 chr10 112572458 112572458 G C rs1417635 RBM20 Nonsynonymous SNV W768S 1 1 0.997 387 1174 384 0.992 293 587 192 146 192 Benign 0.001 311 chr10 105957714 105957714 A G rs10883979 CFAP43 Nonsynonymous SNV I393T 0.056 0.044 0.058 29 66 17 0.074 17 4 0 0 1 2.31 312 chr1 3416449 3416449 C A rs7553399 MEGF6 Nonsynonymous SNV R916L 0.779 0.779 0.728 309 915 299 0.792 214 351 111 82 125 16.79 313 chr10 10838851 10838851 A T rs117432838 CELF2 Star tloss M1? 0.035 0.039 0 16 41 15 0.041 0 1 0 0 1 Benign 11.12 314 chr10 1094906 1094906 C T rs7091756 IDI1 Nonsynonymous SNV C13Y 0.058 0.073 0.095 26 68 28 0.067 28 2 0 1 1 0.549 315 chr10 112595719 112595719 G C rs942077 RBM20 Nonsynonymous SNV E1223Q 0.842 0.831 0.803 338 988 319 0.867 236 413 130 95 146 Benign 26.3 316 chr10 105963553 105963553 A G rs11191947 CFAP43 Synonymous SNV F324F 0.056 0.044 0.037 29 66 17 0.074 11 4 0 0 1 4.178 317 chr1 3496479 3496479 T C rs2794340 MEGF6 Nonsynonymous SNV S131G 0.901 0.914 0.878 352 1058 351 0.903 258 493 162 118 162 0.025 318 chr10 111651541 111651541 G A rs111607977 XPNPEP1 Synonymous SNV D4D 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 11.47 319 chr10 112641053 112641053 A G rs7081726 PDCD4 Nonsynonymous SNV I22V 0.951 0.964 0.949 373 1117 370 0.956 279 532 178 133 178 8.919 320 chr1 3511934 3511934 A G rs7513275 MEGF6 Nonsynonymous SNV M115T 0.131 0.156 0.16 52 154 60 0.133 47 9 4 4 4 0.008 321 chr10 11299735 11299735 A T rs2277212 CELF2 Synonymous SNV V28V 0.727 0.698 0.707 283 853 268 0.726 208 311 91 72 100 5.788 322 chr1 3548136 3548136 T C rs2760321 WRAP73 Synonymous SNV A378A 0.831 0.818 0.85 325 976 314 0.833 250 405 129 107 134 0.982 323 chr10 11356160 11356160 C T rs2246449 CELF2 Synonymous SNV L110L 0.339 0.359 0.337 132 398 138 0.338 99 56 23 20 27 16.36 324 chr1 3638674 3638674 C T rs1801174 TP73 Synonymous SNV T124T 0.923 0.922 0.915 354 1084 354 0.908 269 501 162 124 161 14.5 325 chr1 3418391 3418391 C T rs4648508 MEGF6 Synonymous SNV P761P 0.404 0.409 0.367 155 474 157 0.397 108 93 31 22 28 11.85 326 chr10 113917085 113917085 T A rs2254537 GPAM Synonymous SNV P681P 0.633 0.622 0.643 216 743 239 0.554 189 235 78 64 63 8.935 327 chr1 3669201 3669201 A G rs10797410 CCDC27 Synonymous SNV P52P 0.452 0.422 0.395 180 531 162 0.462 116 135 35 26 43 0.267 328 chr1 3428237 3428237 T C MEGF6 Nonsynonymous SNV I331V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.6 329 chr10 113920465 113920465 G A rs2277207 GPAM Synonymous SNV N552N 0.529 0.492 0.524 173 621 189 0.444 154 167 49 43 41 6.659 330 chr10 112838892 112838892 C A rs1800038 ADRA2A Synonymous SNV R380R 0.011 0.008 0.02 2 13 3 0.005 6 0 0 0 0 15.85 331 chr1 3669205 3669205 C G rs10910021 CCDC27 Nonsynonymous SNV Q54E 0.451 0.419 0.384 180 530 161 0.462 113 134 35 25 43 0.001 332 chr10 113935379 113935379 T C rs10787428 GPAM Nonsynonymous SNV E131G 0.531 0.492 0.524 176 623 189 0.451 154 168 50 43 42 24.2 333 chr10 11360673 11360673 A G rs2279809 CELF2-AS1 0 0 0.541 0 0 0 0 159 0 0 43 0 0.323 334 chr1 3677933 3677933 T C rs1181883 CCDC27 Nonsynonymous SNV M267T 0.446 0.409 0.391 173 524 157 0.444 115 124 35 26 42 0.002 335 chr10 113940329 113940329 T C rs2792751 GPAM Nonsynonymous SNV I43V 0.635 0.622 0.656 217 745 239 0.556 193 236 79 68 63 0.002 336 chr10 114200355 114200355 G A rs2306159 ZDHHC6 Synonymous SNV T202T 0.514 0.49 0.514 184 603 188 0.472 151 160 49 39 41 12 337 chr1 3679775 3679775 C T rs10910024 CCDC27 Nonsynonymous SNV T353M 0.213 0.174 0.173 78 250 67 0.2 51 42 10 5 8 1.028 338 chr10 114053546 114053546 C G rs726009 TECTB Synonymous SNV S178S 0.467 0.5 0.456 144 548 192 0.369 134 125 42 28 25 13.06 339 chr10 11505175 11505175 A G rs3740204 USP6NL Synonymous SNV P601P 0.334 0.354 0.344 145 392 136 0.372 101 66 22 15 29 0.097 340 chr10 106917003 106917003 G A rs150165918 SORCS3 Synonymous SNV P530P 0.009 0.008 0.003 7 11 3 0.018 1 0 0 0 0 12.04 341 chr1 3753136 3753136 A T rs2275824 CEP104 Nonsynonymous SNV L414I 0.434 0.388 0.398 178 510 149 0.456 117 116 26 26 39 11.33 342 chr10 115334124 115334124 C T rs3740530 HABP2 Synonymous SNV H35H 0.601 0.57 0.602 219 706 219 0.562 177 212 59 56 61 Benign 8.455 343 chr10 111627304 111627304 C G rs149882220 XPNPEP1 Nonsynonymous SNV C638S 0.016 0.023 0 8 19 9 0.021 0 0 0 0 0 1.925 344 chr1 3669172 3669172 C T rs41315312 CCDC27 Nonsynonymous SNV R43C 0.119 0.107 0.105 44 140 41 0.113 31 11 3 3 1 23.6 345 chr10 115341753 115341753 G A rs2245056 HABP2 Synonymous SNV K293K 0.379 0.38 0.395 147 445 146 0.377 116 83 25 25 26 Benign 12.27 346 chr1 3755675 3755675 T C rs1891941 CEP104 Synonymous SNV E248E 0.946 0.966 0.929 375 1111 371 0.962 273 524 180 126 181 0.068 347 chr10 115341846 115341846 G A rs2245058 HABP2 Synonymous SNV A324A 0.379 0.38 0.395 147 445 146 0.377 116 83 25 25 26 Benign 6.594 348 chr1 3761479 3761479 C T rs2275822 CEP104 Synonymous SNV T186T 0.442 0.396 0.429 180 519 152 0.462 126 120 27 26 41 12.89 349 chr10 115334148 115334148 C T rs139478887 HABP2 Synonymous SNV Y43Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 1.08 350 chr10 11504752 11504752 T C rs12570211 USP6NL Synonymous SNV P742P 0.101 0.096 0.088 47 118 37 0.121 26 4 0 2 2 0.008 351 chr10 115349462 115349462 A T rs4918857 NRAP Nonsynonymous SNV L1648Q 0.01 0 0 2 12 0 0.005 0 0 0 0 0 28.1 352 chr1 3786189 3786189 G A rs1141070 DFFB Synonymous SNV T201T 0.364 0.328 0.33 145 427 126 0.372 97 83 18 24 24 11.63 353 chr10 106075081 106075081 G A rs34043167 ITPRIP Synonymous SNV I243I 0.076 0.07 0.051 23 89 27 0.059 15 1 0 1 0 4.601 354 chr1 3800242 3800242 A G rs3205087 DFFB Synonymous SNV P342P 0.457 0.419 0.422 165 536 161 0.423 124 138 35 28 30 0.005 355 chr10 115350597 115350597 G A rs1885434 NRAP Nonsynonymous SNV R1530C 0.334 0.339 0.367 124 392 130 0.318 108 65 19 25 20 24.8 356 chr1 3807593 3807593 G C rs4274008 C1orf174 Nonsynonymous SNV T53R 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 0.268 357 chr10 108367020 108367020 C T rs7082289 SORCS1 Synonymous SNV A1023A 0.096 0.096 0.112 43 113 37 0.11 33 1 1 1 1 15.45 358 chr10 112349422 112349422 T C rs75323904 SMC3 Synonymous SNV Y455Y 0.049 0.034 0.034 18 58 13 0.046 10 2 0 0 0 Benign 0.749 359 chr10 112404302 112404302 G A rs35141404 RBM20 Synonymous SNV R30R 0.155 0.141 0.139 62 182 54 0.159 41 15 6 5 6 Benign 11.79 360 chr10 115370254 115370254 A G rs12243176 NRAP Synonymous SNV I1153I 0.393 0.385 0.354 149 461 148 0.382 104 85 26 23 26 7.296 361 chr1 3679783 3679783 T C rs76416341 CCDC27 Nonsynonymous SNV W356R 0.014 0.005 0.024 4 16 2 0.01 7 1 0 0 0 0.002 362 chr10 112359472 112359472 T C rs76625999 SMC3 Synonymous SNV L777L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.548 363 chr1 4772717 4772717 G A rs242056 AJAP1 Nonsynonymous SNV G263R 0.732 0.706 0.639 273 859 271 0.7 188 311 97 59 95 21.3 364 chr10 115370274 115370274 T C rs10749138 NRAP Nonsynonymous SNV I1147V 0.392 0.388 0.354 149 460 149 0.382 104 85 26 23 26 4.932 365 chr10 115352005 115352005 A G rs11196389 NRAP Nonsynonymous SNV L1495P 0.133 0.128 0.15 55 156 49 0.141 44 12 2 6 5 24.9 366 chr1 5926507 5926507 T C rs555164 NPHP4 Synonymous SNV E678E 0.446 0.456 0.412 141 524 175 0.362 121 119 42 26 24 Benign 0.035 367 chr10 112541062 112541062 G A rs61735268 RBM20 Nonsynonymous SNV G232D 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 Benign/Likely benign 25.2 368 chr10 114154752 114154752 G A rs146605626 ACSL5 Synonymous SNV A72A 0.018 0.013 0.027 5 21 5 0.013 8 0 0 0 0 14.81 369 chr10 115374670 115374670 A G rs3121453 NRAP Synonymous SNV D1002D 0.24 0.24 0.238 91 282 92 0.233 70 33 10 10 10 0.076 370 chr1 5935162 5935162 A T rs1287637 NPHP4 0.768 0.799 0.782 291 902 307 0.746 230 346 126 95 107 Benign 18.68 371 chr10 114154815 114154815 C T rs11195943 ACSL5 Synonymous SNV P93P 0.08 0.089 0.095 47 94 34 0.121 28 5 3 1 4 13.82 372 chr10 115377290 115377290 T C rs77678145 NRAP Nonsynonymous SNV D930G 0.077 0.068 0.054 20 90 26 0.051 16 4 0 2 1 16.66 373 chr10 115381747 115381747 G A rs868738 NRAP Nonsynonymous SNV R848C 0.34 0.323 0.306 117 399 124 0.3 90 72 14 16 17 33 374 chr10 1094909 1094909 C G rs4880760 IDI1 Nonsynonymous SNV G12A 0.035 0.039 0.034 19 41 15 0.049 10 1 0 0 0 8.548 375 chr1 5937168 5937168 G A rs3747992 NPHP4 Synonymous SNV R422R 0.372 0.341 0.32 159 437 131 0.408 94 78 21 20 25 Benign 8.058 376 chr10 114169276 114169276 A G rs3736946 ACSL5 Nonsynonymous SNV M238V 0.08 0.089 0.095 47 94 34 0.121 28 5 3 1 4 0.011 377 chr10 115392919 115392919 T A rs2270182 NRAP Nonsynonymous SNV N484I 0.309 0.354 0.333 116 363 136 0.297 98 55 25 15 13 22.5 378 chr10 115375528 115375528 C A rs11196397 NRAP Synonymous SNV P971P 0.19 0.172 0.218 77 223 66 0.197 64 20 4 8 5 12.62 379 chr1 6007259 6007259 G A rs190940697 NPHP4 Nonsynonymous SNV R342C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 380 chr1 3807388 3807388 G A rs4131373 C1orf174 Synonymous SNV L121L 0.201 0.188 0.228 72 236 72 0.185 67 27 5 10 12 5.017 381 chr10 115393948 115393948 C T rs11196400 NRAP Nonsynonymous SNV D449N 0.181 0.227 0.204 69 213 87 0.177 60 20 13 5 2 26.9 382 chr10 115389356 115389356 G A rs2286736 NRAP Synonymous SNV L642L 0.321 0.313 0.276 117 377 120 0.3 81 56 18 13 15 8.717 383 chr10 115409840 115409840 C T rs2275799 NRAP Nonsynonymous SNV A282T 0.307 0.357 0.34 114 360 137 0.292 100 55 25 15 13 13.06 384 chr1 6158562 6158562 A G rs2229002 KCNAB2 Synonymous SNV S277S 0.48 0.487 0.531 188 564 187 0.482 156 127 40 43 40 9.251 385 chr10 115389366 115389366 G A rs2286735 NRAP Nonsynonymous SNV A639V 0.323 0.313 0.276 117 379 120 0.3 81 56 18 13 15 22.4 386 chr10 114053788 114053788 T C rs746498190 TECTB Nonsynonymous SNV Y214H 0.004 0.01 0 0 5 4 0 0 0 0 0 0 23.9 387 chr1 6184092 6184092 A G rs2843493 CHD5 Nonsynonymous SNV S1539P 0.587 0.591 0.643 237 689 227 0.608 189 204 63 60 67 18.61 388 chr10 115411598 115411598 C A rs4918861 NRAP Synonymous SNV L213L 0.307 0.357 0.323 114 360 137 0.292 95 55 25 15 13 12.6 389 chr10 115393929 115393929 G A rs3189030 NRAP Nonsynonymous SNV S455L 0.254 0.208 0.248 99 298 80 0.254 73 40 4 9 12 13.16 390 chr10 115411614 115411614 A G rs2154028 NRAP Nonsynonymous SNV V208A 0.891 0.88 0.878 335 1046 338 0.859 258 466 146 113 145 10.09 391 chr1 6196869 6196869 A G rs2250358 CHD5 Synonymous SNV I831I 0.438 0.422 0.463 183 514 162 0.469 136 107 33 32 35 9.918 392 chr1 6209363 6209363 T C rs12565328 CHD5 Synonymous SNV V368V 0.31 0.276 0.282 134 364 106 0.344 83 61 14 12 16 7.225 393 chr10 115405615 115405615 T C rs3127106 NRAP Nonsynonymous SNV Q360R 0.578 0.521 0.524 215 678 200 0.551 154 192 53 40 53 9.231 394 chr10 115412793 115412793 A G rs3737322 NRAP Synonymous SNV Y157Y 0.311 0.362 0.35 117 365 139 0.3 103 57 27 18 13 0.01 395 chr10 113915658 113915658 G C rs747801120 GPAM Nonsynonymous SNV L759V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.08 396 chr1 6211183 6211183 G A rs9434711 CHD5 Synonymous SNV F301F 0.304 0.271 0.252 132 357 104 0.338 74 61 14 11 15 16 397 chr10 112645088 112645088 G A rs34104444 PDCD4 Synonymous SNV Q159Q 0.047 0.034 0.044 16 55 13 0.041 13 0 0 0 0 8.087 398 chr10 115417289 115417289 G A rs1891762 NRAP Synonymous SNV H100H 0.891 0.878 0.878 335 1046 337 0.859 258 466 145 113 145 0.014 399 chr10 115405664 115405664 C T rs3121478 NRAP Nonsynonymous SNV A344T 0.576 0.521 0.524 215 676 200 0.551 154 192 53 40 53 3.022 400 chr1 6267531 6267531 C T rs12070387 RNF207 Nonsynonymous SNV A95V 0.031 0.049 0.065 15 36 19 0.038 19 1 1 0 0 17.56 401 chr10 115411664 115411664 C T rs117582231 NRAP Synonymous SNV V191V 0.083 0.078 0.071 25 98 30 0.064 21 5 2 1 1 11.05 402 chr10 115422474 115422474 A G rs3127122 NRAP Synonymous SNV N73N 0.348 0.328 0.327 123 408 126 0.315 96 73 14 18 19 0.002 403 chr10 115345564 115345564 G A rs373829826 HABP2 Nonsynonymous SNV R436H 0.012 0.018 0.003 4 14 7 0.01 1 0 0 0 0 21.6 404 chr10 115439569 115439569 C T rs7921977 CASP7 Nonsynonymous SNV T19I 0.803 0.82 0.793 320 943 315 0.821 233 381 128 100 131 7.996 405 chr1 6269021 6269021 C T rs114798118 RNF207 Synonymous SNV R135R 0.066 0.068 0.075 27 78 26 0.069 22 2 2 1 0 16.48 406 chr1 6278414 6278414 A G rs709209 RNF207 Nonsynonymous SNV N573S 0.349 0.398 0.371 150 410 153 0.385 109 68 26 18 25 0.003 407 chr10 115350388 115350388 C T rs11575691 NRAP Synonymous SNV P1599P 0.131 0.122 0.126 49 154 47 0.126 37 14 3 3 4 14.54 408 chr1 6269340 6269340 A G rs4908865 RNF207 Synonymous SNV A188A 0.106 0.112 0.102 41 125 43 0.105 30 5 4 1 1 8.857 409 chr10 115439641 115439642 TT - rs10553596 CASP7 L44Sfs*70 0.29 0.349 0.306 124 340 134 0.318 90 52 19 16 18 410 chr10 115410234 115410234 T C rs2185913 NRAP Nonsynonymous SNV Y249C 0.216 0.174 0.224 87 253 67 0.223 66 29 3 8 8 27.2 411 chr10 115457264 115457264 T G rs11555408 CASP7 Nonsynonymous SNV D4E 0.111 0.12 0.112 54 130 46 0.138 33 7 1 1 5 7.115 412 chr1 6271125 6271125 A G rs1052598 RNF207 Synonymous SNV P352P 0.066 0.068 0.078 26 77 26 0.067 23 1 2 2 0 0.267 413 chr1 6279370 6279370 G C rs846111 RNF207 Nonsynonymous SNV G603A 0.25 0.281 0.245 121 294 108 0.31 72 38 15 8 15 0.018 414 chr1 6272078 6272078 G A rs12073329 RNF207 Nonsynonymous SNV A421T 0.066 0.068 0.075 26 77 26 0.067 22 1 2 2 0 0.105 415 chr10 115489209 115489209 G A rs1032292028 CASP7 Synonymous SNV E249E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.14 416 chr10 115526177 115526177 A G rs10885500 PLEKHS1 Synonymous SNV Q6Q 0.413 0.411 0.357 165 485 158 0.423 105 99 29 30 27 0.095 417 chr1 6305292 6305292 C A rs61760836 HES3 Nonsynonymous SNV P96T 0.671 0.599 0.554 245 788 230 0.628 163 260 69 58 69 0.892 418 chr10 115529576 115529576 T A rs41292632 PLEKHS1 Nonsynonymous SNV F69I 0.181 0.185 0.207 67 213 71 0.172 61 22 6 4 4 7.148 419 chr1 6305303 6305303 C A rs61760837 HES3 Synonymous SNV A99A 0.671 0.602 0.541 245 788 231 0.628 159 260 69 55 69 15.87 420 chr1 6313938 6313938 C T rs12735670 GPR153 Nonsynonymous SNV R209H 0.732 0.674 0.724 266 859 259 0.682 213 312 87 81 87 10.95 421 chr10 115535599 115535599 T C rs3750901 PLEKHS1 Synonymous SNV A253A 0.219 0.211 0.241 90 257 81 0.231 71 33 9 6 11 0.502 422 chr10 11505743 11505743 G A rs113611342 USP6NL Nonsynonymous SNV P412L 0.042 0.042 0.027 17 49 16 0.044 8 1 1 0 1 11.32 423 chr10 115451781 115451781 C T rs12358524 CASP7 Synonymous SNV N17N 0.096 0.099 0.082 32 113 38 0.082 24 4 2 0 2 6.257 424 chr1 6314822 6314822 T C rs11590458 GPR153 Synonymous SNV T48T 0.732 0.674 0.721 269 859 259 0.69 212 311 87 80 88 0.002 425 chr10 115540411 115540411 T C rs11196483 PLEKHS1 Synonymous SNV A324A 0.4 0.391 0.384 160 470 150 0.41 113 87 25 16 31 1.994 426 chr1 6614391 6614391 A C rs6693391 NOL9 Nonsynonymous SNV S58A 0.991 0.99 0.922 381 1163 380 0.977 271 580 189 135 189 0.028 427 chr10 115609915 115609915 C G rs3750898 DCLRE1A Nonsynonymous SNV D317H 0.796 0.799 0.789 327 935 307 0.838 232 376 125 91 137 26.4 428 chr1 6614415 6614415 A G rs6693400 NOL9 Nonsynonymous SNV W50R 0.988 0.99 0.935 383 1160 380 0.982 275 580 190 137 191 5.911 429 chr10 115805056 115805056 G C rs1801253 ADRB1 Nonsynonymous SNV G389R 0.627 0.591 0.68 230 736 227 0.59 200 231 71 69 70 drug response 0.144 430 chr10 115644040 115644040 G A rs7913176 NHLRC2 Nonsynonymous SNV V314I 0.203 0.229 0.19 95 238 88 0.244 56 23 10 5 13 15.2 431 chr1 6614535 6614535 G A rs4908923 NOL9 Nonsynonymous SNV R10W 0.852 0.859 0.837 338 1000 330 0.867 246 428 145 106 149 25.8 432 chr10 116032519 116032519 A G rs597371 VWA2 Nonsynonymous SNV E131G 0.381 0.339 0.357 151 447 130 0.387 105 98 22 19 27 6.935 433 chr10 115804036 115804036 A G rs1801252 ADRB1 Nonsynonymous SNV S49G 0.091 0.104 0.075 31 107 40 0.079 22 5 2 1 1 Likely benign 0.001 434 chr10 115406691 115406691 G A rs34652635 NRAP Synonymous SNV L328L 0.02 0.029 0.01 5 23 11 0.013 3 0 0 0 0 Benign 11.32 435 chr10 116060387 116060387 T C rs2286396 AFAP1L2 Synonymous SNV R535R 0.806 0.833 0.844 327 946 320 0.838 248 388 132 104 138 4.846 436 chr1 6635231 6635231 A G rs10864628 TAS1R1 Nonsynonymous SNV K347E 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 0.002 437 chr10 116073696 116073696 C T rs3813722 AFAP1L2 Synonymous SNV T242T 0.699 0.742 0.748 280 821 285 0.718 220 289 103 80 101 17.18 438 chr10 115364585 115364585 A G rs45438894 NRAP Nonsynonymous SNV M1301T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 22.9 439 chr10 116060427 116060427 G C rs2781806 AFAP1L2 Nonsynonymous SNV T522S 0.043 0.023 0.041 14 50 9 0.036 12 3 0 0 0 0.079 440 chr1 6704635 6704635 A G rs200458 DNAJC11 Synonymous SNV G360G 0.941 0.924 0.912 360 1105 355 0.923 268 519 163 122 166 3.951 441 chr10 116073801 116073801 T C rs621375 AFAP1L2 Synonymous SNV K207K 0.245 0.201 0.211 87 288 77 0.223 62 37 5 6 9 9.923 442 chr10 115910928 115910928 G T rs7095762 CCDC186 Nonsynonymous SNV Q271K 0.245 0.232 0.265 116 288 89 0.297 78 52 11 8 13 2.878 443 chr1 6705874 6705874 G C rs200454 DNAJC11 Nonsynonymous SNV T290S 0.179 0.148 0.163 74 210 57 0.19 48 14 7 4 6 10.46 444 chr10 116064528 116064528 G A rs73365341 AFAP1L2 Nonsynonymous SNV L412F 0.028 0.016 0.027 7 33 6 0.018 8 3 0 1 0 25.4 445 chr10 116085784 116085784 - CCG rs60778514 AFAP1L2 L110_G111insR 0.698 0.755 0.714 270 820 290 0.692 210 294 111 73 95 446 chr10 116307504 116307504 A G rs2247528 ABLIM1 Synonymous SNV N175N 0.711 0.768 0.789 292 835 295 0.749 232 295 113 90 111 7.043 447 chr10 115922774 115922774 G A rs1061159 CCDC186 Nonsynonymous SNV T85I 0.247 0.234 0.265 117 290 90 0.3 78 52 11 8 13 0.001 448 chr1 7870048 7870048 T C rs228669 PER3 Synonymous SNV S446S 0.928 0.922 0.912 368 1090 354 0.944 268 506 163 124 173 0.356 449 chr10 115439530 115439530 G C rs28411397 CASP7 Nonsynonymous SNV R6P 0.218 0.167 0.133 86 256 64 0.221 39 35 3 6 6 0.192 450 chr10 116931101 116931101 - TT rs3086141 ATRNL1 Frameshift insertion L467_468ins* 0.998 1 0.976 387 1172 384 0.992 287 586 192 142 192 451 chr1 7887248 7887248 G A rs2859387 PER3 Synonymous SNV P753P 0.338 0.333 0.333 112 397 128 0.287 98 57 20 14 22 7.866 452 chr10 117075175 117075175 G A rs1953758 ATRNL1 Nonsynonymous SNV S989N 0.975 0.977 0.969 375 1145 375 0.962 285 559 183 138 180 3.579 453 chr10 116008497 116008497 G A rs9664945 VWA2 Nonsynonymous SNV A9T 0.247 0.24 0.272 116 290 92 0.297 80 51 11 9 13 7.662 454 chr1 7887493 7887493 T C rs228696 PER3 Nonsynonymous SNV L835P 0.949 0.943 0.946 374 1114 362 0.959 278 529 171 132 179 0.061 455 chr10 116615045 116615045 T C rs3180654 FAM160B1 Synonymous SNV F631F 0.397 0.38 0.35 141 466 146 0.362 103 81 29 17 21 7.356 456 chr1 6947717 6947717 C T rs3810982 CAMTA1 Nonsynonymous SNV L80F 0.125 0.117 0.153 73 147 45 0.187 45 8 1 2 2 20.4 457 chr10 117849353 117849353 T C rs2072276 GFRA1 Nonsynonymous SNV T245A 0.097 0.099 0.099 33 114 38 0.085 29 3 1 0 2 7.156 458 chr10 115489152 115489152 C G rs2227310 CASP7 Nonsynonymous SNV D230E 0.199 0.182 0.194 74 234 70 0.19 57 24 2 6 4 6.989 459 chr10 116659253 116659253 A G rs10885629 FAM160B1 Nonsynonymous SNV T733A 0.564 0.526 0.551 207 662 202 0.531 162 178 53 40 52 0.018 460 chr1 7887579 7887579 C G rs228697 PER3 Nonsynonymous SNV P864A 0.118 0.104 0.129 48 139 40 0.123 38 0 2 4 2 8.192 461 chr1 7797503 7797503 C G rs41278952 CAMTA1 Nonsynonymous SNV N220K 0.104 0.094 0.133 37 122 36 0.095 39 7 2 2 1 Likely benign 10.51 462 chr10 117884950 117884950 G A rs2245020 GFRA1 Synonymous SNV N63N 0.573 0.578 0.554 214 673 222 0.549 163 196 62 46 62 6.404 463 chr10 116719543 116719543 G A rs7099565 TRUB1 Nonsynonymous SNV R167K 0.495 0.484 0.497 191 581 186 0.49 146 136 43 34 43 9.67 464 chr10 115489167 115489167 G A rs2227309 CASP7 Nonsynonymous SNV R249K 0.201 0.185 0.194 75 236 71 0.192 57 25 2 6 4 9.084 465 chr1 7889941 7889941 C T rs2640908 PER3 Synonymous SNV T977T 0.228 0.208 0.231 72 268 80 0.185 68 26 6 7 11 12.65 466 chr10 115614740 115614740 C T rs17235038 NHLRC2 Synonymous SNV L37L 0.048 0.052 0.054 11 56 20 0.028 16 1 1 1 0 15.67 467 chr10 11789382 11789382 G A rs4750090 ECHDC3 Nonsynonymous SNV A69T 1 0.992 0.99 389 1174 381 0.997 291 587 189 144 194 25.1 468 chr1 7889973 7890026 AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA - rs57875989 PER3 E988_T1000del 0.433 0.406 0.401 172 508 156 0.441 118 203 63 43 71 469 chr1 7890117 7890117 T C rs2640909 PER3 Nonsynonymous SNV M1037T 0.263 0.273 0.252 117 309 105 0.3 74 37 18 10 24 0.003 470 chr10 116853692 116853692 G A rs74561952 ATRNL1 Synonymous SNV K61K 0.035 0.044 0.037 17 41 17 0.044 11 0 0 0 0 16.37 471 chr10 11789405 11789405 G A rs4750091 ECHDC3 Synonymous SNV K76K 1 0.992 0.99 389 1174 381 0.997 291 587 189 144 194 4 472 chr10 116085782 116085782 - CCC rs111594798 AFAP1L2 G111_Q112insG 0.118 0.089 0.116 47 139 34 0.121 34 11 1 2 4 473 chr10 11797436 11797436 T C rs7899215 ECHDC3 Synonymous SNV V140V 1 0.992 0.99 389 1174 381 0.997 291 587 189 144 194 0.117 474 chr1 7913430 7913430 G A rs228648 UTS2 Nonsynonymous SNV T21M 0.606 0.617 0.643 247 712 237 0.633 189 220 70 62 79 13.85 475 chr10 11797467 11797467 G A rs7910140 ECHDC3 Nonsynonymous SNV A151T 1 0.992 0.99 389 1174 381 0.997 291 587 189 144 194 13.58 476 chr10 116050019 116050019 C T rs62623671 VWA2 Nonsynonymous SNV L715F 0.02 0.029 0.017 13 24 11 0.033 5 0 0 0 0 22.6 477 chr10 117228794 117228794 A G rs10885721 ATRNL1 Synonymous SNV T1203T 0.415 0.484 0.412 154 487 186 0.395 121 143 64 36 45 5.265 478 chr10 115922492 115922492 C T rs12782946 CCDC186 Nonsynonymous SNV R179Q 0.055 0.089 0.099 27 65 34 0.069 29 3 2 1 1 18.02 479 chr10 116335246 116335246 G A rs985273 ABLIM1 Synonymous SNV F104F 0.241 0.341 0.211 124 283 131 0.318 62 42 23 5 18 13.02 480 chr10 117486763 117486763 G T rs2254619 ATRNL1 Synonymous SNV L1267L 0.406 0.469 0.466 147 477 180 0.377 137 99 44 35 29 5.264 481 chr1 8390495 8390495 A G rs1058619 SLC45A1 Synonymous SNV P314P 0.681 0.651 0.667 244 799 250 0.626 196 275 83 66 72 3.72 482 chr10 11797500 11797500 G A rs35986488 ECHDC3 Nonsynonymous SNV D162N 0.067 0.07 0.061 19 79 27 0.049 18 2 1 0 0 34 483 chr1 7913029 7913029 A G rs34305100 UTS2 Nonsynonymous SNV I12T 0.108 0.104 0.088 36 127 40 0.092 26 6 2 0 4 5.772 484 chr1 8390888 8390888 G A rs2289731 SLC45A1 Synonymous SNV P445P 0.394 0.398 0.395 167 462 153 0.428 116 88 33 25 31 0.489 485 chr10 11805339 11805339 C T rs17850531 ECHDC3 Synonymous SNV I236I 0.281 0.26 0.296 81 330 100 0.208 87 51 9 15 11 10.77 486 chr1 8418644 8418644 C A rs11121172 RERE Synonymous SNV R763R 0.693 0.721 0.748 280 814 277 0.718 220 288 95 82 105 0.3 487 chr10 11805354 11805354 A G rs12258196 ECHDC3 Synonymous SNV A241A 0.584 0.539 0.588 202 686 207 0.518 173 185 54 55 53 0.314 488 chr1 8418650 8418650 T C rs1058766 RERE Synonymous SNV R761R 0.693 0.721 0.748 280 814 277 0.718 220 288 95 82 105 0.045 489 chr10 116659255 116659255 G A rs62641708 FAM160B1 Synonymous SNV T733T 0.009 0 0.003 7 11 0 0.018 1 0 0 0 1 6.388 490 chr10 11805357 11805357 G A rs10906011 ECHDC3 Synonymous SNV S242S 0.584 0.539 0.588 202 686 207 0.518 173 185 54 55 53 2.352 491 chr1 7913445 7913445 C T rs13306061 UTS2 Nonsynonymous SNV R16Q 0.114 0.115 0.088 36 134 44 0.092 26 6 2 0 4 11.74 492 chr1 8421092 8421092 C T rs2784735 RERE Synonymous SNV P271P 0.415 0.396 0.456 156 487 152 0.4 134 100 30 39 33 7.162 493 chr10 118187528 118187528 C T rs10885929 PNLIPRP3 Nonsynonymous SNV L2F 0.033 0.036 0.014 11 39 14 0.028 4 0 0 0 0 8.874 494 chr10 116020974 116020974 C G rs71484937 VWA2 Synonymous SNV S97S 0.055 0.091 0.092 28 65 35 0.072 27 3 2 1 1 10.07 495 chr1 8421203 8421203 T C rs13596 RERE Synonymous SNV P234P 0.712 0.734 0.755 284 836 282 0.728 222 308 100 86 106 0.054 496 chr1 8390384 8390384 G C rs56125713 SLC45A1 Synonymous SNV L277L 0.198 0.195 0.214 81 233 75 0.208 63 29 7 6 7 7.873 497 chr10 11805249 11805249 T C rs61739577 ECHDC3 Synonymous SNV G206G 0.173 0.151 0.17 79 203 58 0.203 50 13 6 2 9 0.702 498 chr1 9017204 9017204 A G rs2274333 CA6 Nonsynonymous SNV S30G 0.307 0.318 0.313 96 361 122 0.246 92 53 18 9 11 21 499 chr10 118231360 118231360 G A rs10736251 PNLIPRP3 Nonsynonymous SNV V381I 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.039 500 chr1 8395560 8395560 G T rs7535752 SLC45A1 Nonsynonymous SNV A503S 0.234 0.247 0.235 105 275 95 0.269 69 35 12 9 13 0.002 501 chr10 116085639 116085639 G A rs75926928 AFAP1L2 0.089 0.096 0.058 41 105 37 0.105 17 8 1 2 2 0.44 502 chr1 9030964 9030964 C T rs3737665 CA6 Synonymous SNV N128N 0.241 0.26 0.238 79 283 100 0.203 70 37 12 5 8 6.067 503 chr10 118231363 118231363 A G rs1897519 PNLIPRP3 Nonsynonymous SNV R382G 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.902 504 chr1 9034421 9034421 G A rs3765964 CA6 Nonsynonymous SNV G287E 0.383 0.435 0.367 155 450 167 0.397 108 86 34 14 29 13.21 505 chr10 118313265 118313265 T C rs2915748 PNLIP Synonymous SNV N162N 0.92 0.914 0.915 356 1080 351 0.913 269 496 161 125 162 0.005 506 chr1 9165685 9165685 G A rs72637739 GPR157 Nonsynonymous SNV R218C 0.193 0.161 0.184 78 227 62 0.2 54 25 4 5 8 12.77 507 chr10 117884959 117884959 G A rs367673375 GFRA1 Synonymous SNV S60S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.62 508 chr10 118363642 118363642 T C rs3010501 PNLIPRP1 Synonymous SNV S388S 0.676 0.685 0.687 273 794 263 0.7 202 258 93 71 91 0.074 509 chr10 118616110 118616110 C T rs7083543 ENO4 Synonymous SNV A134A 0.257 0.305 0.299 114 302 117 0.292 88 41 20 16 20 5.165 510 chr1 8425900 8425900 T C rs3753275 RERE Synonymous SNV T473T 0.265 0.273 0.262 114 311 105 0.292 77 39 17 14 16 2.342 511 chr10 116417800 116417800 G A rs35474148 ABLIM1 Nonsynonymous SNV R54C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.2 512 chr1 9324364 9324364 G A rs781339773 H6PD Synonymous SNV T615T 0.003 0 0 0 3 0 0 0 0 0 0 0 5.523 513 chr10 118364967 118364967 G C rs2305204 PNLIPRP1 Nonsynonymous SNV E414D 0.104 0.104 0.092 22 122 40 0.056 27 6 4 1 1 16.07 514 chr10 118957027 118957027 A G rs67346047 KCNK18 Nonsynonymous SNV R10G 0.063 0.049 0.061 18 74 19 0.046 18 3 0 1 1 0.006 515 chr1 9324571 9324571 T C rs9434742 H6PD Synonymous SNV Y684Y 0.459 0.409 0.449 189 539 157 0.485 132 119 32 26 55 0.002 516 chr1 9009444 9009444 A C rs2274328 CA6 Nonsynonymous SNV M68L 0.574 0.549 0.565 239 674 211 0.613 166 194 59 46 69 0.008 517 chr1 9324670 9324670 A G rs9434743 H6PD Synonymous SNV S717S 0.448 0.401 0.435 186 526 154 0.477 128 111 32 24 52 0.045 518 chr10 118368606 118368606 T C rs1049125 PNLIPRP1 Nonsynonymous SNV L461P 0.18 0.172 0.18 49 211 66 0.126 53 19 6 6 6 22.6 519 chr10 119768551 119768551 C T rs7923321 RAB11FIP2 Synonymous SNV P499P 0.978 0.984 0.966 387 1148 378 0.992 284 563 186 137 192 17.4 520 chr1 9009451 9009451 G C rs2274329 CA6 Nonsynonymous SNV G70A 0.119 0.12 0.078 57 140 46 0.146 23 10 2 1 5 23.6 521 chr1 9416346 9416346 C T rs3795309 SPSB1 Synonymous SNV L132L 0.294 0.341 0.289 119 345 131 0.305 85 63 20 14 16 11.27 522 chr10 120353910 120353910 T C rs1613448 PRLHR Nonsynonymous SNV I283V 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.271 523 chr10 118620459 118620459 A C rs11197835 ENO4 Synonymous SNV L263L 0.546 0.505 0.466 214 641 194 0.549 137 180 53 36 63 4.532 524 chr1 9670834 9670834 C T rs4926472 TMEM201 Nonsynonymous SNV P579L 0.78 0.742 0.81 311 916 285 0.797 238 393 123 98 131 5.585 525 chr10 11912144 11912144 C T rs17851505 PROSER2 Synonymous SNV H349H 0.083 0.063 0.082 25 97 24 0.064 24 5 1 0 0 12.92 526 chr1 9009470 9009470 G C rs2274330 CA6 Synonymous SNV G76G 0.138 0.135 0.105 71 162 52 0.182 31 11 3 2 6 0.712 527 chr10 120828969 120828969 A G rs7908387 EIF3A Synonymous SNV D313D 0.97 0.971 0.932 382 1139 373 0.979 274 553 181 130 187 7.697 528 chr1 9982387 9982387 G T rs61743470 LZIC Nonsynonymous SNV L182I 0.072 0.06 0 41 85 23 0.105 0 3 0 0 2 0.608 529 chr10 120353899 120353899 C A rs116062593 PRLHR Synonymous SNV V286V 0.023 0.023 0.017 10 27 9 0.026 5 1 0 0 1 16.15 530 chr1 10218439 10218439 T C rs2273299 UBE4B Synonymous SNV S855S 0.148 0.154 0.122 64 174 59 0.164 36 15 3 2 6 9.831 531 chr10 118424310 118424310 C G C10orf82 Synonymous SNV T141T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.808 532 chr10 120919246 120919246 T C rs2181118 SFXN4 Synonymous SNV A118A 0.993 0.995 0.997 389 1166 382 0.997 293 579 190 146 194 0.137 533 chr1 10228220 10228220 G C rs147961171 UBE4B Nonsynonymous SNV Q946H 0.005 0 0 2 6 0 0.005 0 0 0 0 0 29.9 534 chr10 118231305 118231305 A G rs10510020 PNLIPRP3 Synonymous SNV K362K 0.063 0.057 0.075 29 74 22 0.074 22 1 2 1 2 0.072 535 chr10 120920588 120920588 T C rs10749291 SFXN4 Synonymous SNV Q86Q 0.374 0.393 0.415 129 439 151 0.331 122 83 27 33 20 Benign 0.111 536 chr1 9074861 9074861 C T rs12402973 SLC2A7 Nonsynonymous SNV R261Q 0.055 0.068 0.071 28 65 26 0.072 21 0 0 0 1 6.347 537 chr10 120354010 120354010 T G rs41300243 PRLHR Synonymous SNV S249S 0.023 0.023 0.017 10 27 9 0.026 5 1 0 0 1 0.805 538 chr10 120933324 120933324 G A rs3758609 PRDX3 Synonymous SNV D124D 0.991 0.987 0.98 387 1164 379 0.992 288 577 187 143 192 12.15 539 chr10 11911372 11911372 A G rs11257368 PROSER2-AS1 0.137 0.135 0.048 48 161 52 0.123 14 10 7 3 2 5.498 540 chr1 10511589 10511589 T C rs666103 CENPS-CORT, CORT Synonymous SNV S85S 0.971 0.948 0.939 371 1140 364 0.951 276 553 173 136 176 0.049 541 chr10 118435989 118435989 C A rs11197793 HSPA12A Synonymous SNV S437S 0.016 0.021 0.02 10 19 8 0.026 6 0 0 0 0 13.14 542 chr10 12111090 12111090 T C rs1279138 DHTKD1 Nonsynonymous SNV F20L 1 0.995 0.997 389 1174 382 0.997 293 587 191 146 194 0.002 543 chr1 9304979 9304986 CCCAGGCA - rs1060499862 H6PD W8_H9delinsC 0.146 0.122 0.112 44 171 47 0.113 33 11 4 1 2 544 chr1 10708142 10708142 A G rs778228 CASZ1 Synonymous SNV F1071F 0.17 0.195 0.207 79 200 75 0.203 61 19 5 11 12 9.827 545 chr10 11911425 11911425 G C rs72775915 PROSER2-AS1 0.152 0.161 0.082 46 178 62 0.118 24 20 7 3 3 1.413 546 chr1 9307033 9307033 G A rs7524046 H6PD Synonymous SNV A223A 0.244 0.281 0.245 97 287 108 0.249 72 39 14 11 12 4.676 547 chr10 11911704 11911704 G A rs2147439 PROSER2 Nonsynonymous SNV E203K 0.01 0.013 0.007 6 12 5 0.015 2 0 0 0 0 28.1 548 chr10 116085744 116085744 G C rs66638979 AFAP1L2 Nonsynonymous SNV T124S 0.112 0.089 0.102 42 131 34 0.108 30 11 1 2 2 1.184 549 chr1 10709441 10709441 C T rs284299 CASZ1 Synonymous SNV A978A 0.167 0.195 0.204 72 196 75 0.185 60 18 5 11 10 18.18 550 chr10 12131081 12131081 T G rs3740015 DHTKD1 Nonsynonymous SNV Y272D 0.633 0.617 0.619 261 743 237 0.669 182 240 69 54 87 8.822 551 chr1 9307138 9307138 T C rs11121350 H6PD Synonymous SNV A258A 0.246 0.284 0.252 98 289 109 0.251 74 39 14 11 12 0.135 552 chr1 10713765 10713765 T C rs284294 CASZ1 Synonymous SNV S783S 0.558 0.565 0.565 245 655 217 0.628 166 191 63 49 75 1.978 553 chr10 119133968 119133968 G C rs3814230 PDZD8 Synonymous SNV S257S 0.216 0.206 0.18 86 253 79 0.221 53 24 7 6 7 0.145 554 chr10 121196335 121196335 G A rs2230349 GRK5 Nonsynonymous SNV R304H 0.057 0.068 0.061 27 67 26 0.069 18 2 3 0 1 25.3 555 chr10 11911764 11911764 G A rs117789748 PROSER2 Nonsynonymous SNV G223R 0.125 0.133 0.092 36 147 51 0.092 27 13 6 1 1 21.8 556 chr1 9323885 9323885 G A rs148535734 H6PD Nonsynonymous SNV D456N 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 21.5 557 chr1 10725498 10725498 G A rs284322 CASZ1 Synonymous SNV D49D 0.143 0.169 0.16 61 168 65 0.156 47 17 4 4 8 2.24 558 chr10 121429633 121429633 T C rs2234962 BAG3 Nonsynonymous SNV C151R 0.202 0.198 0.207 64 237 76 0.164 61 24 5 5 7 Benign/Likely benign 23.8 559 chr10 119134058 119134058 T C rs3814229 PDZD8 Synonymous SNV G227G 0.216 0.206 0.18 86 253 79 0.221 53 24 7 6 7 0.306 560 chr1 11008341 11008341 G A rs10864483 C1orf127 Synonymous SNV C478C 0.077 0.091 0.058 22 90 35 0.056 17 5 1 2 1 1.066 561 chr10 11912228 11912228 G A rs74657303 PROSER2 Synonymous SNV T377T 0.118 0.128 0.088 33 138 49 0.085 26 11 6 2 3 8.571 562 chr1 9323910 9323910 G A rs6688832 H6PD Nonsynonymous SNV R464Q 0.261 0.281 0.228 102 307 108 0.262 67 42 16 11 13 Uncertain significance 0.079 563 chr10 12143105 12143105 C G rs2062988 DHTKD1 Nonsynonymous SNV I607M 0.832 0.807 0.789 318 977 310 0.815 232 412 127 89 130 16.16 564 chr10 12139884 12139884 C T rs35537424 DHTKD1 Synonymous SNV T520T 0.053 0.036 0.037 14 62 14 0.036 11 3 1 0 0 9.312 565 chr1 11087524 11087524 G A rs1782455 MASP2 Synonymous SNV S493S 0.833 0.82 0.796 319 978 315 0.818 234 406 130 93 135 Benign 5.477 566 chr10 120353843 120353843 G A rs8192524 PRLHR Nonsynonymous SNV P305L 0.055 0.073 0.027 11 65 28 0.028 8 0 1 0 0 18.87 567 chr10 12046546 12046546 T C rs7079388 UPF2 Nonsynonymous SNV N496S 0.135 0.125 0.082 43 158 48 0.11 24 15 2 3 3 3.167 568 chr1 11090916 11090916 C A rs12711521 MASP2 Nonsynonymous SNV D371Y 0.792 0.781 0.762 309 930 300 0.792 224 365 118 85 127 Benign 22.1 569 chr10 121436362 121436362 A G rs196295 BAG3 Synonymous SNV V432V 0.831 0.81 0.813 327 976 311 0.838 239 407 131 98 135 Benign 3.682 570 chr10 119043554 119043554 C T rs363294 PDZD8 Nonsynonymous SNV R897Q 0.077 0.096 0.054 36 90 37 0.092 16 2 1 0 3 17.34 571 chr10 12148259 12148259 A C rs1701472 DHTKD1 Synonymous SNV P637P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.006 572 chr10 121436068 121436068 T G rs3858339 BAG3 Synonymous SNV P334P 0.119 0.115 0.119 50 140 44 0.128 35 16 1 5 2 Benign 2.736 573 chr10 12071397 12071397 G A rs11257490 UPF2 Synonymous SNV L164L 0.144 0.174 0.184 62 169 67 0.159 54 9 5 1 6 5.174 574 chr10 120354098 120354098 C T rs8192522 PRLHR Nonsynonymous SNV R220H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 22.7 575 chr10 121436286 121436286 C T rs3858340 BAG3 Nonsynonymous SNV P407L 0.119 0.115 0.119 49 140 44 0.126 35 16 1 5 2 Benign 22.8 576 chr10 11912167 11912167 G A rs371990658 PROSER2 Nonsynonymous SNV S357N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 18.5 577 chr1 11119899 11119899 T C rs7545802 SRM Synonymous SNV S34S 0.589 0.573 0.867 297 692 220 0.762 255 346 110 127 148 9.285 578 chr10 12148286 12148286 T C rs1615510 DHTKD1 Synonymous SNV F646F 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.131 579 chr10 120354472 120354472 C T rs938700 PRLHR Synonymous SNV T95T 0.055 0.073 0.031 11 65 28 0.028 9 0 1 0 0 15.48 580 chr1 11132217 11132217 G A rs1130683 EXOSC10 Synonymous SNV R698R 0.716 0.763 0.701 279 840 293 0.715 206 301 110 76 104 16.17 581 chr10 12149939 12149939 C T rs1722462 DHTKD1 Synonymous SNV I693I 0.879 0.909 0.912 356 1032 349 0.913 268 453 159 121 161 13.38 582 chr1 11141187 11141187 C G rs2258621 EXOSC10 Synonymous SNV P463P 0.762 0.807 0.762 290 895 310 0.744 224 340 122 87 112 5.191 583 chr10 121551581 121551581 A C rs2289306 INPP5F Synonymous SNV A215A 0.478 0.484 0.483 172 561 186 0.441 142 131 49 36 31 1.841 584 chr1 10318652 10318652 C G rs12402052 KIF1B Synonymous SNV A95A 0.297 0.263 0.262 118 349 101 0.303 77 50 13 11 20 Benign 13.22 585 chr1 11205058 11205058 C T rs1057079 MTOR Synonymous SNV A1577A 0.71 0.758 0.714 280 834 291 0.718 210 300 109 76 104 Benign 18.23 586 chr10 121586827 121586827 A G rs56055506 INPP5F Synonymous SNV R368R 0.155 0.154 0.214 61 182 59 0.156 63 16 5 7 4 0.003 587 chr1 10435324 10435324 C A rs11121552 KIF1B Synonymous SNV T1721T 0.297 0.26 0.269 116 349 100 0.297 79 48 13 11 19 Benign 18.63 588 chr1 11288758 11288758 G A rs1064261 MTOR Synonymous SNV N999N 0.724 0.779 0.748 276 850 299 0.708 220 309 114 83 103 11.65 589 chr10 121596498 121596498 C T rs34118671 MCMBP Synonymous SNV Q484Q 0.118 0.107 0.156 46 138 41 0.118 46 8 3 3 3 12.85 590 chr1 11301714 11301714 A G rs1135172 MTOR Synonymous SNV D479D 0.723 0.771 0.748 276 849 296 0.708 220 309 111 83 103 Benign 7.841 591 chr1 10460485 10460485 T C rs1049887 PGD Synonymous SNV D40D 0.3 0.26 0.269 117 352 100 0.3 79 49 13 10 20 6.347 592 chr10 121679013 121679013 A G rs2475298 SEC23IP Nonsynonymous SNV K644E 0.617 0.638 0.68 254 724 245 0.651 200 212 77 68 81 8.663 593 chr10 121586882 121586882 A G rs3188055 INPP5F Nonsynonymous SNV N387D 0.388 0.362 0.32 135 455 139 0.346 94 70 23 15 23 0.005 594 chr1 11333812 11333812 C T rs114000606 UBIAD1 Nonsynonymous SNV S75F 0.017 0.005 0.01 11 20 2 0.028 3 1 0 0 0 Likely benign 16.99 595 chr10 121201572 121201572 C T rs372602377 GRK5 Synonymous SNV R343R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.67 596 chr1 10473196 10473196 C T rs2229687 PGD Synonymous SNV D222D 0.345 0.32 0.306 139 405 123 0.356 90 60 23 13 24 3.885 597 chr10 121275099 121275099 G A rs11550215 RGS10 Synonymous SNV N107N 0.105 0.099 0.109 43 123 38 0.11 32 9 0 1 1 13.59 598 chr10 12191933 12191933 C T rs10466280 SEC61A2 Synonymous SNV A123A 0.358 0.398 0.401 134 420 153 0.344 118 76 27 23 20 13.59 599 chr10 121587277 121587277 G A rs61753071 INPP5F Synonymous SNV R518R 0.021 0.01 0.017 11 25 4 0.028 5 0 0 0 0 2.212 600 chr1 10510334 10510334 C T rs182159138 CORT Synonymous SNV T18T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.79 601 chr1 11561593 11561593 G A rs2817580 DISP3 Nonsynonymous SNV G182S 0.592 0.594 0.616 225 695 228 0.577 181 204 67 59 65 0.002 602 chr10 12209752 12209752 T C rs6686 NUDT5 Synonymous SNV A200A 0.42 0.448 0.439 150 493 172 0.385 129 94 34 26 24 0.367 603 chr10 121429394 121429394 G A rs35434411 BAG3 Nonsynonymous SNV R71Q 0.014 0.01 0.01 4 17 4 0.01 3 0 0 0 0 Benign/Likely benign 17.97 604 chr1 10596341 10596341 C T rs12375 PEX14 Synonymous SNV F52F 0.274 0.284 0.224 122 322 109 0.313 66 49 19 9 25 Benign 16.66 605 chr10 122216862 122216862 C T rs67319648 PLPP4 Synonymous SNV F15F 0.199 0.263 0.245 75 234 101 0.192 72 30 17 10 8 22.6 606 chr1 11579470 11579470 G A rs2072994 DISP3 Nonsynonymous SNV A650T 0.574 0.573 0.588 224 674 220 0.574 173 190 59 54 69 0.03 607 chr1 10689924 10689924 C T rs2128414 PEX14 Synonymous SNV D338D 0.016 0.023 0.031 16 19 9 0.041 9 0 1 0 0 Benign 9.026 608 chr10 119134707 119134707 G A rs78645354 PDZD8 Nonsynonymous SNV A11V 0.071 0.057 0.061 35 83 22 0.09 18 5 2 1 3 21.1 609 chr10 122348969 122348969 C T rs1047369 PLPP4 Synonymous SNV S194S 0.174 0.169 0.177 64 204 65 0.164 52 15 4 3 2 18.2 610 chr10 122624679 122624679 G A rs10886789 WDR11 Synonymous SNV T278T 0.313 0.349 0.337 113 367 134 0.29 99 61 25 19 14 15.25 611 chr1 11579504 11579504 G C rs2072993 DISP3 Nonsynonymous SNV G661A 0.128 0.115 0.126 45 150 44 0.115 37 10 1 3 2 3.27 612 chr10 122645376 122645376 A T rs7899928 WDR11 Synonymous SNV A633A 0.314 0.349 0.34 114 369 134 0.292 100 60 25 19 14 8.824 613 chr10 122663585 122663585 G A rs1652727 WDR11 Synonymous SNV L986L 0.643 0.659 0.694 240 755 253 0.615 204 250 90 71 73 11.18 614 chr1 11589911 11589911 G A rs2076468 DISP3 Synonymous SNV P999P 0.153 0.128 0.146 51 180 49 0.131 43 16 1 3 0 7.455 615 chr10 121336248 121336248 T C rs12356865 TIAL1 Synonymous SNV Q309Q 0.076 0.063 0.082 41 89 24 0.105 24 5 0 1 2 0.055 616 chr10 1230968 1230968 C T rs2271275 ADARB2 Nonsynonymous SNV A626T 0.699 0.703 0.633 268 821 270 0.687 186 284 92 70 89 21.1 617 chr1 10713997 10713997 G A rs61736955 CASZ1 Nonsynonymous SNV P706L 0.003 0.003 0.01 9 4 1 0.023 3 0 0 0 0 29.8 618 chr1 11710779 11710779 - GCG rs148874459 FBXO2 A45_Y46insA 0.124 0.13 0.129 55 146 50 0.141 38 11 2 2 5 619 chr10 122649482 122649482 A G rs2289337 WDR11 Synonymous SNV A768A 0.243 0.245 0.252 101 285 94 0.259 74 36 13 8 17 12.99 620 chr1 11826630 11826630 C T rs6668699 C1orf167 Nonsynonymous SNV P263S 0.726 0.654 0.667 260 852 251 0.667 196 306 83 64 81 7.026 621 chr10 123239112 123239112 G A rs1047057 FGFR2 Synonymous SNV L703L 0.499 0.549 0.476 191 586 211 0.49 140 151 56 33 48 Benign 9.665 622 chr10 122663576 122663576 G A WDR11 Synonymous SNV R983R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 623 chr1 10725387 10725387 T C rs17035539 CASZ1 Synonymous SNV A86A 0.037 0.031 0.058 19 43 12 0.049 17 1 0 0 0 0.107 624 chr1 11827304 11827304 A G rs6540996 C1orf167 Synonymous SNV P442P 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.017 625 chr10 123549691 123549691 T G rs35350755 ATE1 Synonymous SNV P361P 0.49 0.435 0.422 166 575 167 0.426 124 151 38 28 33 10.62 626 chr1 11828238 11828238 G A rs4845880 C1orf167 Nonsynonymous SNV R483Q 0.721 0.651 0.65 259 846 250 0.664 191 307 83 63 82 15.15 627 chr10 123596254 123596254 T C rs4237536 ATE1 Synonymous SNV S316S 0.948 0.927 0.895 373 1113 356 0.956 263 536 168 120 179 6.858 628 chr1 11024271 11024271 G T rs11121662 C1orf127 Synonymous SNV R5R 0.05 0.034 0.048 17 59 13 0.044 14 2 0 1 1 9.007 629 chr1 11828319 11828319 G A rs4845881 C1orf167 Nonsynonymous SNV R510Q 0.723 0.654 0.66 258 849 251 0.662 194 306 84 62 82 15.59 630 chr10 123673339 123673339 T C rs10749435 ATE1 Synonymous SNV L5L 0.958 0.935 0.912 375 1125 359 0.962 268 539 169 121 180 6.559 631 chr10 123298158 123298158 T C rs1047100 FGFR2 Synonymous SNV V117V 0.816 0.844 0.844 319 958 324 0.818 248 389 137 104 134 Benign 11.03 632 chr10 123842523 123842523 G A rs11200385 TACC2 Nonsynonymous SNV V170I 0.211 0.201 0.184 64 248 77 0.164 54 26 5 5 5 0.208 633 chr1 11831615 11831615 C T rs6667720 C1orf167 Nonsynonymous SNV R578W 0.736 0.669 0.687 269 864 257 0.69 202 319 84 70 87 13.63 634 chr10 122114550 122114550 T A rs12781587 RPL21 Nonsynonymous SNV Q49L 0.198 0.224 0 113 232 86 0.29 0 92 34 0 45 15.76 635 chr1 11832311 11832311 G C rs10779764 C1orf167 Synonymous SNV L661L 0.672 0.615 0.622 244 789 236 0.626 183 264 73 56 73 9.681 636 chr10 12131218 12131218 C T rs3740016 DHTKD1 Synonymous SNV N317N 0.127 0.104 0.088 30 149 40 0.077 26 8 2 0 0 5.279 637 chr10 123843665 123843665 G A rs138675193 TACC2 Synonymous SNV T550T 0.007 0.018 0 0 8 7 0 0 0 0 0 0 11.61 638 chr10 123844503 123844503 C T rs10887063 TACC2 Nonsynonymous SNV L830F 0.156 0.161 0.143 48 183 62 0.123 42 13 2 2 2 8.923 639 chr10 123845322 123845322 T C rs7073433 TACC2 Nonsynonymous SNV W1103R 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 4.997 640 chr1 11836628 11836628 T C rs6699881 C1orf167 Nonsynonymous SNV W758R 0.736 0.664 0.67 271 864 255 0.695 197 319 84 70 89 0.006 641 chr10 123970530 123970530 T C rs2295873 TACC2 Nonsynonymous SNV V275A 0.136 0.135 0.16 45 160 52 0.115 47 14 4 6 1 0.004 642 chr10 123845211 123845211 G A rs11200387 TACC2 Nonsynonymous SNV A1066T 0.139 0.154 0.122 36 163 59 0.092 36 11 2 0 1 9.723 643 chr1 11836682 11836682 C T rs7538516 C1orf167 Nonsynonymous SNV R776C 0.674 0.615 0.602 246 791 236 0.631 177 265 73 56 73 14.56 644 chr10 119134411 119134411 G A rs769045306 PDZD8 Nonsynonymous SNV R110W 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 26.5 645 chr10 123970569 123970569 C T rs2295874 TACC2 Nonsynonymous SNV A288V 0.11 0.102 0.112 32 129 39 0.082 33 8 1 3 1 3.716 646 chr10 119134694 119134694 G A rs746847949 PDZD8 Synonymous SNV S15S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.056 647 chr1 11838848 11838848 G T rs6697244 C1orf167 Nonsynonymous SNV S824I 0.673 0.612 0.626 247 790 235 0.633 184 264 72 56 74 22.2 648 chr10 123970722 123970722 T A rs2295876 TACC2 Nonsynonymous SNV L339H 0.109 0.094 0.109 32 128 36 0.082 32 7 1 2 1 22.7 649 chr1 11839966 11839966 G A rs4846043 C1orf167 Nonsynonymous SNV R920H 0.654 0.591 0.497 245 768 227 0.628 146 262 72 51 74 24.5 650 chr10 123845897 123845897 G C rs1106992 TACC2 Synonymous SNV L1294L 0.222 0.206 0.18 69 261 79 0.177 53 30 5 4 6 4.564 651 chr10 123996976 123996976 G A rs2295879 TACC2 Nonsynonymous SNV A780T 0.348 0.31 0.327 111 409 119 0.285 96 65 20 15 19 7.279 652 chr10 123846288 123846288 G A rs4752642 TACC2 Nonsynonymous SNV A1425T 0.221 0.203 0.18 69 260 78 0.177 53 30 5 4 6 5.522 653 chr1 11839998 11839998 T C rs4846044 C1orf167 Nonsynonymous SNV W931R 0.963 0.966 0.738 365 1131 371 0.936 217 555 180 105 172 0.001 654 chr10 124089036 124089036 G A rs2421013 BTBD16 Nonsynonymous SNV R319Q 0.47 0.456 0.544 172 552 175 0.441 160 121 43 41 40 9.037 655 chr10 123846485 123846485 A G rs4751871 TACC2 Synonymous SNV Q1490Q 0.222 0.203 0.18 69 261 78 0.177 53 30 5 4 6 0.364 656 chr1 11844330 11844330 C T rs10864543 C1orf167 Synonymous SNV A1035A 0.667 0.599 0.616 242 783 230 0.621 181 260 69 54 71 13.78 657 chr10 122665459 122665459 C G rs3740307 WDR11 Synonymous SNV V1121V 0.113 0.13 0.095 34 133 50 0.087 28 11 3 1 0 13.94 658 chr10 124096035 124096035 T C rs3817281 BTBD16 Synonymous SNV S431S 0.321 0.271 0.347 104 377 104 0.267 102 62 17 17 15 0.006 659 chr10 120789522 120789522 - CGG NANOS1 G74_S75insG 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 660 chr10 123846860 123846860 C T rs11599291 TACC2 Synonymous SNV P1615P 0.22 0.206 0.18 70 258 79 0.179 53 30 5 4 6 11.69 661 chr10 124096041 124096041 T C rs1129973 BTBD16 Synonymous SNV S433S 0.321 0.271 0.347 104 377 104 0.267 102 62 17 17 15 0.036 662 chr1 11849447 11849447 A G rs868014 C1orf167 Nonsynonymous SNV R1432G 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 1.611 663 chr10 124096061 124096061 A C rs1048347 BTBD16 Nonsynonymous SNV H440P 0.32 0.271 0.347 104 376 104 0.267 102 62 17 17 15 0.001 664 chr10 123847355 123847355 G A rs10788237 TACC2 Synonymous SNV G1780G 0.221 0.206 0.18 69 259 79 0.177 53 30 5 4 6 6.485 665 chr10 123810060 123810060 G A rs11200367 TACC2 Synonymous SNV A47A 0.062 0.078 0.054 25 73 30 0.064 16 1 1 1 1 8.816 666 chr10 120967466 120967466 C T GRK5 Synonymous SNV L13L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.8 667 chr1 11854457 11854457 G A rs4846051 MTHFR Synonymous SNV F476F 0.997 0.995 0.99 389 1171 382 0.997 291 584 190 144 194 Benign 10.29 668 chr10 123903133 123903133 G A rs12765679 TACC2 Nonsynonymous SNV E1916K 0.161 0.156 0.194 71 189 60 0.182 57 15 4 3 6 20.2 669 chr10 124183732 124183732 T C rs4405249 PLEKHA1 Synonymous SNV R233R 0.859 0.849 0.874 335 1008 326 0.859 257 436 138 111 143 3.254 670 chr1 11728952 11728952 C T rs7514198 FBXO6 Synonymous SNV Y79Y 0.089 0.094 0.109 34 104 36 0.087 32 6 4 0 1 3.336 671 chr1 11856378 11856378 G A rs1801133 MTHFR Nonsynonymous SNV A263V 0.537 0.471 0.473 193 630 181 0.495 139 169 40 37 46 drug response 25 672 chr10 123842825 123842825 C G rs11816938 TACC2 Synonymous SNV P270P 0.036 0.047 0.024 16 42 18 0.041 7 0 1 0 1 3.274 673 chr10 124189197 124189197 A G rs1045216 PLEKHA1 Nonsynonymous SNV T320A 0.592 0.578 0.629 215 695 222 0.551 185 213 63 60 50 4.525 674 chr1 11884555 11884555 A G rs198400 CLCN6 Nonsynonymous SNV E176G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.41 675 chr10 124329710 124329710 C A rs11523871 DMBT1 Nonsynonymous SNV P42T 0.713 0.776 0.714 291 837 298 0.746 210 300 112 74 108 0.001 676 chr10 123846490 123846490 C T rs7920896 TACC2 Nonsynonymous SNV P1492L 0.037 0.047 0.024 16 43 18 0.041 7 0 1 0 1 17.09 677 chr1 12082926 12082926 A G rs2295283 MIIP Nonsynonymous SNV K167E 0.618 0.654 0.616 239 725 251 0.613 181 217 83 58 72 0.033 678 chr10 124339332 124339332 T C rs3013245 DMBT1 Synonymous SNV H306H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 679 chr10 124402677 124402677 A G rs1052715 DMBT1 Synonymous SNV P1707P 0.461 0.448 0.442 194 541 172 0.497 130 127 41 30 43 0.257 680 chr10 123848113 123848113 G A rs72839700 TACC2 Synonymous SNV A1860A 0.037 0.047 0.024 16 43 18 0.041 7 0 1 0 1 9.82 681 chr10 124089075 124089075 G A rs986178 BTBD16 Nonsynonymous SNV G332D 0.112 0.138 0.136 46 131 53 0.118 40 6 4 2 4 16.6 682 chr10 124457452 124457452 C T rs2947594 C10orf120 Nonsynonymous SNV A269T 0.812 0.815 0.786 309 953 313 0.792 231 386 129 91 119 0.55 683 chr1 12175729 12175729 C T rs1763642 TNFRSF8 Nonsynonymous SNV R186C 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 21.3 684 chr10 123730454 123730454 T C rs139294636 NSMCE4A Synonymous SNV L167L 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 12.99 685 chr10 124457906 124457906 C T rs2901343 C10orf120 Synonymous SNV P117P 0.402 0.359 0.378 150 472 138 0.385 111 103 26 21 31 10.15 686 chr1 12313827 12313827 A G rs61774897 VPS13D Nonsynonymous SNV I205V 0.01 0.003 0.01 3 12 1 0.008 3 0 0 0 0 1.078 687 chr10 124459139 124459139 T C rs11813597 C10orf120 Synonymous SNV S56S 0.405 0.359 0.371 150 475 138 0.385 109 107 26 22 31 0.022 688 chr1 12401868 12401868 A C rs28551666 VPS13D Synonymous SNV P2861P 0.837 0.87 0.861 330 983 334 0.846 253 413 144 107 140 2.761 689 chr10 124610027 124610027 G A rs1891110 FAM24B Nonsynonymous SNV P2L 0.483 0.518 0.469 165 567 199 0.423 138 146 50 29 32 0.149 690 chr10 124214355 124214355 C T rs2736911 ARMS2 Stop gain R38X 0.126 0.138 0.102 53 148 53 0.136 30 9 3 2 2 Likely benign 24.8 691 chr1 12638964 12638964 T C rs2275875 DHRS3 Synonymous SNV P75P 0.842 0.836 0.81 330 988 321 0.846 238 420 138 99 137 0.056 692 chr10 124648150 124648150 A G rs10902838 LOC399815 0 0 0.463 0 0 0 0 136 0 0 28 0 12.58 693 chr1 12639018 12639018 C T rs2275874 MIR6730 0.543 0.544 0.52 207 637 209 0.531 153 189 56 44 53 3.619 694 chr10 124742792 124742792 G A rs3736583 PSTK Synonymous SNV S171S 0.646 0.648 0.663 253 758 249 0.649 195 243 87 64 82 11.25 695 chr1 12820870 12820870 T C rs1132185 C1orf158 Nonsynonymous SNV F153L 0.783 0.833 0.752 292 919 320 0.749 221 359 134 83 108 0.003 696 chr10 123687456 123687456 G A rs79570924 ATE1 Synonymous SNV F3F 0.048 0.068 0.071 16 56 26 0.041 21 1 2 2 0 9.792 697 chr10 124742895 124742895 G C rs3736582 PSTK Nonsynonymous SNV G206R 0.645 0.648 0.673 253 757 249 0.649 198 244 87 64 82 12.34 698 chr10 123903149 123903149 C T rs142578469 TACC2 Nonsynonymous SNV P1921L 0.005 0 0 6 6 0 0.015 0 0 0 0 0 13.48 699 chr10 123734670 123734670 T C rs572469878 NSMCE4A Nonsynonymous SNV D4G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 22.7 700 chr10 124249118 124249118 C T rs17624021 HTRA1 Synonymous SNV I251I 0.048 0.044 0.034 19 56 17 0.049 10 1 0 0 0 Benign/Likely benign 16.21 701 chr1 12835868 12835868 T C rs1812242 PRAMEF12 Nonsynonymous SNV M157T 0.78 0.805 0.714 310 916 309 0.795 210 366 126 78 124 0.001 702 chr10 125426412 125426412 A G rs12263344 GPR26 Synonymous SNV P163P 0.582 0.589 0.531 229 683 226 0.587 156 203 67 45 66 0.048 703 chr10 125426565 125426565 G C rs4980313 GPR26 Synonymous SNV L214L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.061 704 chr10 123842522 123842522 C T rs146425124 TACC2 Synonymous SNV A169A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 12.4 705 chr10 125506302 125506302 T C rs7088479 CPXM2 Nonsynonymous SNV Q750R 0.999 0.995 0.986 387 1173 382 0.992 290 586 190 143 192 0.046 706 chr1 12837634 12837634 T A rs848578 PRAMEF12 Synonymous SNV I448I 0.784 0.813 0.718 313 920 312 0.803 211 368 129 79 125 6.65 707 chr10 124214448 124214448 G T rs10490924 ARMS2 Nonsynonymous SNV A69S 0.194 0.201 0.19 58 228 77 0.149 56 18 6 7 4 Benign 12.64 708 chr1 13802325 13802325 T C rs3013105 LRRC38 Nonsynonymous SNV K292E 0.44 0.401 0.473 171 516 154 0.438 139 108 37 36 30 1.552 709 chr10 125521533 125521533 G A rs10794566 CPXM2 Synonymous SNV D544D 0.703 0.727 0.687 281 825 279 0.721 202 288 96 68 102 10.87 710 chr10 125521590 125521590 G A rs10794567 CPXM2 Synonymous SNV Y525Y 0.706 0.729 0.694 282 829 280 0.723 204 291 97 69 103 5.244 711 chr10 124340406 124340406 G C rs111575923 DMBT1 Nonsynonymous SNV S343T 0.035 0.029 0.041 12 41 11 0.031 12 0 0 0 0 0.001 712 chr1 13802437 13802437 G A rs3013106 LRRC38 Synonymous SNV S254S 0.299 0.289 0.34 116 351 111 0.297 100 52 19 21 16 10.37 713 chr10 125528048 125528048 G A rs1219725 CPXM2 Synonymous SNV Y431Y 0.409 0.443 0.507 155 480 170 0.397 149 109 39 38 35 0.595 714 chr10 124009124 124009124 G C rs56075957 TACC2 Nonsynonymous SNV S957T 0.079 0.091 0.085 33 93 35 0.085 25 1 2 1 1 25.2 715 chr10 125780753 125780753 G - rs398015013 CHST15 R456Vfs*28 0.546 0.547 0.459 193 641 210 0.495 135 202 65 49 54 716 chr1 13910417 13910417 C T rs355025 PDPN Synonymous SNV P39P 0.358 0.378 0.361 130 420 145 0.333 106 79 27 19 19 15.04 717 chr10 124351954 124351954 G A rs4752722 DMBT1 Synonymous SNV S771S 0.164 0.159 0.15 63 193 61 0.162 44 25 7 5 12 Likely benign 6.79 718 chr10 126172863 126172863 A G rs6597801 LHPP Nonsynonymous SNV Q94R 0.852 0.839 0.806 332 1000 322 0.851 237 421 132 98 146 9.477 719 chr1 13940864 13940864 C G rs2486188 PDPN Nonsynonymous SNV A105G 0.968 0.982 0.976 369 1136 377 0.946 287 549 185 140 174 13.78 720 chr10 124358420 124358420 C G rs2277242 DMBT1 Synonymous SNV V530V 0.036 0.029 0.041 13 42 11 0.033 12 1 0 0 1 12.14 721 chr10 124358583 124358583 C T rs2277244 DMBT1 Nonsynonymous SNV H585Y 0.034 0.029 0.034 13 40 11 0.033 10 0 0 0 1 20.9 722 chr10 126517989 126517989 G A rs2303611 ABRAXAS2 Synonymous SNV V202V 0.582 0.573 0.582 240 683 220 0.615 171 202 63 50 69 7.872 723 chr10 124742858 124742858 G A rs45498396 PSTK Synonymous SNV R193R 0.19 0.19 0.224 82 223 73 0.21 66 29 6 5 9 11.48 724 chr10 123325034 123325034 C T rs1047101 FGFR2 Synonymous SNV T98T 0.009 0.01 0 0 11 4 0 0 0 0 0 0 Benign/Likely benign 16.67 725 chr1 14108750 14108750 A G PRDM2 Nonsynonymous SNV K1286R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.39 726 chr10 126714714 126714714 G C rs2946994 CTBP2 Nonsynonymous SNV Q539E 0.463 0.539 0.384 183 543 207 0.469 113 131 57 23 45 22.9 727 chr1 14143003 14143003 A G rs1046331 PRDM2 Nonsynonymous SNV Q198R 0.798 0.766 0.776 309 937 294 0.792 228 375 115 90 123 3.917 728 chr10 126714966 126714966 A G rs3012075 CTBP2 Nonsynonymous SNV Y455H 0.467 0.536 0.439 185 548 206 0.474 129 131 57 25 45 17.06 729 chr1 15287230 15287230 C A rs140734720 KAZN Synonymous SNV R87R 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 20.4 730 chr10 124749740 124749740 A C rs11190 PSTK Nonsynonymous SNV K310Q 0.324 0.323 0.286 120 380 124 0.308 84 81 16 13 12 18.74 731 chr10 126715154 126715154 A G rs3781412 CTBP2 Nonsynonymous SNV L392P 0.358 0.313 0.367 150 420 120 0.385 108 85 18 19 35 17.29 732 chr1 15438826 15438839 TGTGTGTGTGTGTG - rs139705142 TMEM51-AS1 0.391 0.378 0.452 177 459 145 0.454 133 160 51 61 65 733 chr1 15438990 15438990 G A rs10803354 KAZN Nonsynonymous SNV A706T 0.365 0.365 0.367 140 428 140 0.359 108 71 17 23 27 18.07 734 chr10 124768583 124768583 G A rs12263012 ACADSB Nonsynonymous SNV R13K 0.264 0.273 0.245 103 310 105 0.264 72 76 19 12 12 Benign 0.044 735 chr10 124800853 124800853 C T rs1140591 ACADSB Synonymous SNV H111H 0.225 0.242 0.218 90 264 93 0.231 64 28 11 7 5 Benign 10.54 736 chr10 126715629 126715629 C T rs3781409 CTBP2 Nonsynonymous SNV V234M 0.265 0.232 0.296 122 311 89 0.313 87 38 9 13 22 27 737 chr1 15439083 15439083 - AGGTCTTTTTTTTCTTCTCCCAGCGGC rs140963536 TMEM51-AS1 0.444 0.427 0.575 197 521 164 0.505 169 186 54 51 73 738 chr1 12009955 12009955 C T rs7529452 PLOD1 Synonymous SNV F98F 0.223 0.284 0.252 88 262 109 0.226 74 26 14 9 11 Benign 17.67 739 chr1 15495110 15495110 A G rs78615461 C1orf195 Nonsynonymous SNV Y88H 0.206 0.161 0.167 80 242 62 0.205 49 30 4 4 7 0.013 740 chr10 127462525 127462525 A G rs10901425 MMP21 Nonsynonymous SNV V191A 0.768 0.771 0.755 329 902 296 0.844 222 347 116 84 139 0.002 741 chr1 12024235 12024235 C T rs1130529 PLOD1 Synonymous SNV N402N 0.223 0.289 0.269 90 262 111 0.231 79 29 14 12 12 Benign 16.74 742 chr10 124214251 124214251 G A rs10490923 ARMS2 Nonsynonymous SNV R3H 0.179 0.172 0.163 71 210 66 0.182 48 19 6 3 3 Benign 2.237 743 chr1 15497727 15497727 T C rs6429722 C1orf195 Synonymous SNV R16R 0.962 0.966 0.969 378 1129 371 0.969 285 542 179 139 183 0.556 744 chr10 127737930 127737930 G A rs2292692 ADAM12 Synonymous SNV P603P 0.207 0.208 0.228 52 243 80 0.133 67 21 3 3 3 0.741 745 chr1 12049283 12049283 C T rs201715603 MFN2 Nonsynonymous SNV H20Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.92 746 chr1 15599025 15599025 G A rs75432354 FHAD1 Synonymous SNV P100P 0.187 0.214 0.136 66 219 82 0.169 40 25 10 2 5 12.75 747 chr10 127753478 127753478 G A rs1278279 ADAM12 Synonymous SNV N502N 0.294 0.294 0.33 107 345 113 0.274 97 37 17 18 11 8.522 748 chr10 128019025 128019025 C G rs3740199 ADAM12 Nonsynonymous SNV G48R 0.612 0.633 0.571 247 718 243 0.633 168 212 73 56 78 0.086 749 chr1 15642964 15642964 G A rs201462752 FHAD1 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 9.3 750 chr1 15687059 15687059 A G rs4661330 FHAD1 Nonsynonymous SNV E919G 0.247 0.255 0.221 86 290 98 0.221 65 33 13 6 8 21.5 751 chr10 128202435 128202435 T C rs1436803 C10orf90 Synonymous SNV A32A 0.868 0.878 0.854 360 1019 337 0.923 251 443 148 106 167 0.191 752 chr1 12164437 12164437 C T rs2230622 TNFRSF8 Synonymous SNV D90D 0.268 0.286 0.255 100 315 110 0.256 75 48 17 6 13 1.388 753 chr10 12867598 12867598 C G rs1757051 CAMK1D Synonymous SNV V316V 0.745 0.729 0.772 298 875 280 0.764 227 320 106 86 111 9.694 754 chr10 124380585 124380585 G C rs760986699 DMBT1 Nonsynonymous SNV S1009T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.068 755 chr10 128926013 128926013 A G rs1060561 DOCK1 Synonymous SNV R944R 0.837 0.784 0.833 332 983 301 0.851 245 411 121 104 140 9.646 756 chr1 15702130 15702130 A G rs17368978 FHAD1 Synonymous SNV L1181L 0.089 0.078 0.048 24 104 30 0.062 14 6 1 0 1 0.052 757 chr10 125601975 125601975 G A rs17679897 CPXM2 Synonymous SNV D181D 0.043 0.057 0.041 22 51 22 0.056 12 2 0 0 0 3.25 758 chr10 128974621 128974621 C T rs2489386 INSYN2A Synonymous SNV T13T 0.635 0.622 0.585 242 745 239 0.621 172 245 77 54 72 12.18 759 chr10 124380592 124380592 T C rs142142713 DMBT1 Synonymous SNV A1011A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.009 760 chr1 15708540 15708540 A G rs1010294 FHAD1 Nonsynonymous SNV I1325V 0.32 0.318 0.333 113 376 122 0.29 98 63 17 15 10 0.001 761 chr10 129245684 129245684 G A rs869801 DOCK1 Nonsynonymous SNV A1814T 0.302 0.349 0.286 116 355 134 0.297 84 56 28 10 18 3.818 762 chr10 125528069 125528069 G A rs17106006 CPXM2 Synonymous SNV P424P 0.032 0.031 0.037 13 38 12 0.033 11 0 0 2 0 12.75 763 chr10 124380598 124380598 G A rs759791802 DMBT1 Synonymous SNV R1013R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.146 764 chr10 126177052 126177052 C T rs146909161 LHPP Synonymous SNV D125D 0.004 0.013 0 5 5 5 0.013 0 0 0 0 0 11.7 765 chr1 12198297 12198297 T C rs476488 TNFRSF8 Synonymous SNV S337S 0.118 0.13 0.136 34 138 50 0.087 40 8 2 3 1 0.311 766 chr10 126100668 126100668 C T rs775865729 OAT Nonsynonymous SNV A25T 0.004 0 0 0 5 0 0 0 0 0 0 0 22.7 767 chr10 126480381 126480381 C T rs144443222 EEF1AKMT2 Nonsynonymous SNV G8S 0.186 0.198 0.197 79 218 76 0.203 58 25 8 8 8 14.6 768 chr1 12248942 12248942 A G rs945439 TNFRSF1B Synonymous SNV K56K 0.209 0.237 0.259 99 245 91 0.254 76 25 10 8 14 0.166 769 chr10 129249662 129249662 G A rs2229603 DOCK1 Nonsynonymous SNV A1878T 0.95 0.93 0.925 377 1115 357 0.967 272 531 167 125 182 14.54 770 chr1 15767012 15767012 C T rs77373944 CTRC Synonymous SNV N52N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 9.619 771 chr10 125780759 125780759 G C rs4072194 CHST15 Nonsynonymous SNV P454A 0.347 0.336 0.313 123 407 129 0.315 92 69 24 18 14 10.22 772 chr1 12251808 12251808 T G rs653667 MIR4632 0.371 0.354 0.439 141 436 136 0.362 129 81 28 25 28 3.735 773 chr1 15767036 15767036 C T rs497078 CTRC Synonymous SNV G60G 0.109 0.112 0.099 37 128 43 0.095 29 8 3 2 2 Benign 11.46 774 chr10 126136112 126136112 A G rs7075981 NKX1-2 Synonymous SNV N273N 0.122 0.13 0.17 52 143 50 0.133 50 11 1 6 1 0.306 775 chr10 129249676 129249676 C T rs2229604 DOCK1 Synonymous SNV S1882S 0.531 0.508 0.486 214 623 195 0.549 143 173 49 36 52 18.65 776 chr10 126136239 126136239 A G rs146495217 NKX1-2 Nonsynonymous SNV V231A 0.137 0.156 0.177 63 161 60 0.162 52 11 3 6 2 0.008 777 chr1 12252955 12252955 T G rs1061622 TNFRSF1B Nonsynonymous SNV M196R 0.204 0.227 0.245 98 239 87 0.251 72 23 9 8 13 6.341 778 chr10 125805621 125805621 C T rs151334494 CHST15 Synonymous SNV T36T 0.006 0.005 0 7 7 2 0.018 0 0 0 0 1 17.8 779 chr1 15832543 15832543 T C rs1052576 CASP9 Nonsynonymous SNV Q221R 0.48 0.461 0.446 195 564 177 0.5 131 126 39 31 46 0.001 780 chr10 12940455 12940455 A G rs10906249 CCDC3 Synonymous SNV N258N 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 0.035 781 chr10 129859061 129859061 T C rs28411949 AS-PTPRE 0.821 0.831 0.793 322 964 319 0.826 233 401 130 94 136 2.681 782 chr1 12339619 12339619 A T rs4845898 VPS13D Nonsynonymous SNV E1505V 0.267 0.247 0.248 103 313 95 0.264 73 38 11 10 16 24.4 783 chr10 129859065 129859065 T C rs11016046 AS-PTPRE 0.825 0.831 0.799 322 968 319 0.826 235 403 130 96 136 0.965 784 chr1 15844615 15844615 A G rs1132312 CASP9 Synonymous SNV F136F 0.48 0.461 0.446 195 564 177 0.5 131 126 39 31 46 0.385 785 chr10 126136465 126136465 G C rs111393855 NKX1-2 Nonsynonymous SNV L156V 0.116 0.13 0.177 54 136 50 0.138 52 11 1 6 1 0.004 786 chr10 129901946 129901946 T G rs1050767 MKI67 Nonsynonymous SNV T2360P 0.152 0.156 0.129 64 178 60 0.164 38 18 6 2 5 15.12 787 chr1 15850603 15850603 G A rs4645983 CASP9 Synonymous SNV S31S 0.152 0.195 0.143 87 179 75 0.223 42 23 12 7 13 11.68 788 chr10 124692132 124692132 A C rs144056903 C10orf88 Synonymous SNV S383S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.235 789 chr10 126136682 126136682 G C rs3916136 NKX1-2 Synonymous SNV P83P 0.12 0.135 0.095 55 141 52 0.141 28 10 1 5 1 1.551 790 chr10 124345796 124345796 C G rs143892520 DMBT1 Nonsynonymous SNV D550E 0.038 0.039 0.041 17 45 15 0.044 12 2 1 2 3 12.66 791 chr1 15850613 15850613 G A rs1052571 CASP9 Nonsynonymous SNV A28V 0.394 0.396 0.357 172 463 152 0.441 105 126 39 28 45 13.47 792 chr10 129902158 129902158 C T rs12777740 MKI67 Nonsynonymous SNV R2289H 0.152 0.156 0.129 64 178 60 0.164 38 18 6 2 5 23.1 793 chr10 124740116 124740116 C T rs376338212 PSTK Nonsynonymous SNV R41W 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 14.52 794 chr10 126138345 126138345 C T rs112863004 NKX1-2 Synonymous SNV G56G 0.067 0.078 0.116 26 79 30 0.067 34 4 0 4 1 13.29 795 chr10 129902281 129902281 G A rs1063535 MKI67 Nonsynonymous SNV P2248L 0.519 0.508 0.469 197 609 195 0.505 138 144 56 35 45 0.054 796 chr1 15892415 15892415 A C rs2236215 DNAJC16 Synonymous SNV R222R 0.26 0.258 0.214 110 305 99 0.282 63 36 12 8 16 13.53 797 chr10 127344489 127344489 C T rs41307583 TEX36 Nonsynonymous SNV V181I 0.039 0.034 0.044 11 46 13 0.028 13 0 0 0 1 0.002 798 chr1 15904318 15904318 C T rs11544523 AGMAT Synonymous SNV S254S 0.228 0.242 0.211 102 268 93 0.262 62 23 12 8 13 18.18 799 chr10 129902368 129902368 T A rs79661992 MKI67 Nonsynonymous SNV D2219V 0.066 0.073 0.054 15 78 28 0.038 16 5 0 0 0 1.432 800 chr10 126715692 126715692 C T rs3781408 CTBP2 Nonsynonymous SNV D213N 0.069 0.078 0.082 27 81 30 0.069 24 1 3 0 0 8.455 801 chr1 15909744 15909744 C T rs11580170 AGMAT Nonsynonymous SNV R140Q 0.263 0.258 0.218 111 309 99 0.285 64 37 12 8 16 12.17 802 chr10 129903016 129903016 T C rs7071768 MKI67 Nonsynonymous SNV N2003S 0.52 0.508 0.473 198 611 195 0.508 139 146 56 36 45 0.001 803 chr10 127265374 127265374 T C rs11244568 TEX36 Nonsynonymous SNV T112A 0.41 0.404 0.449 179 481 155 0.459 132 94 30 29 37 0.001 804 chr10 127462611 127462611 G A rs150375911 MMP21 Synonymous SNV Y162Y 0.026 0.026 0.02 12 30 10 0.031 6 0 0 0 0 0.014 805 chr1 15909850 15909850 C G rs6429757 AGMAT Nonsynonymous SNV G105R 0.515 0.477 0.452 204 605 183 0.523 133 151 40 31 51 0.004 806 chr10 125798111 125798111 T C rs28375663 CHST15 Synonymous SNV P370P 0.122 0.146 0.126 57 143 56 0.146 37 7 5 1 3 0.009 807 chr10 129904477 129904477 C T rs11591817 MKI67 Nonsynonymous SNV R1516Q 0.152 0.156 0.129 66 178 60 0.169 38 18 6 2 5 10.25 808 chr10 127730728 127730728 C T rs34265990 ADAM12 Synonymous SNV A729A 0.049 0.052 0.02 19 58 20 0.049 6 1 0 0 1 1.833 809 chr10 126089434 126089434 G A rs11461 OAT Synonymous SNV N271N 0.276 0.268 0.194 95 324 103 0.244 57 90 28 20 20 Benign 10.49 810 chr1 15959977 15959977 C T rs3795763 DDI2 Synonymous SNV A183A 0.232 0.263 0.235 103 272 101 0.264 69 38 16 10 18 19.23 811 chr10 129906427 129906427 C A rs41306015 MKI67 Nonsynonymous SNV G866V 0.098 0.091 0.085 35 115 35 0.09 25 5 0 1 1 24.6 812 chr10 127753388 127753388 C T rs2279091 ADAM12 Synonymous SNV T532T 0.139 0.122 0.136 79 163 47 0.203 40 10 2 2 10 13.13 813 chr1 15986547 15986547 T C rs3766163 RSC1A1 Nonsynonymous SNV F62L 0.273 0.297 0.235 117 320 114 0.3 69 37 16 10 18 12.79 814 chr10 129906468 129906468 C T rs4750936 MKI67 Synonymous SNV Q852Q 0.153 0.156 0.133 66 180 60 0.169 39 18 6 2 5 6.793 815 chr10 129906674 129906674 T C rs41300566 MKI67 Nonsynonymous SNV K784E 0.098 0.091 0.085 35 115 35 0.09 25 5 0 1 1 9.787 816 chr10 125780647 125780647 A G rs78068995 CHST15 Nonsynonymous SNV M491T 0.03 0.044 0.054 16 35 17 0.041 16 1 0 0 0 15.52 817 chr1 15987709 15987709 T A rs142980050 RSC1A1 Nonsynonymous SNV L449Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 3.763 818 chr10 127462833 127462833 C T rs28381281 MMP21 Synonymous SNV A88A 0.254 0.255 0.167 108 298 98 0.277 49 49 17 15 22 13.73 819 chr10 128147884 128147884 C A rs7077404 LOC728158 0.351 0.331 0.371 133 412 127 0.341 109 68 24 18 19 7.526 820 chr10 128192985 128192985 C T rs11245007 C10orf90 Nonsynonymous SNV D262N 0.292 0.336 0.364 112 343 129 0.287 107 49 21 15 22 0.04 821 chr10 129907489 129907489 G A rs2853344 MKI67 Nonsynonymous SNV A512V 0.095 0.083 0.085 35 112 32 0.09 25 4 0 1 1 0.002 822 chr10 125780753 125780754 GG - rs746518074 CHST15 R456Yfs*49 0.043 0.052 0.014 27 51 20 0.069 4 4 2 1 0 823 chr10 127462934 127462934 G A rs61753106 MMP21 Nonsynonymous SNV R55W 0.015 0.023 0.01 13 18 9 0.033 3 0 0 0 1 23 824 chr10 128147905 128147905 G A rs55945416 LOC728158 0.131 0.109 0.126 43 154 42 0.11 37 13 5 1 4 5.845 825 chr10 127530325 127530325 T C rs3208565 DHX32 Synonymous SNV A510A 0.381 0.396 0.357 158 447 152 0.405 105 81 31 20 36 3.743 826 chr1 16042766 16042766 T C rs12091750 PLEKHM2 Nonsynonymous SNV I32T 0.275 0.299 0.224 106 323 115 0.272 66 41 18 8 16 11.89 827 chr10 129907544 129907544 G C rs2240 MKI67 Nonsynonymous SNV L494V 0.155 0.156 0.133 64 182 60 0.164 39 18 6 2 5 0.001 828 chr10 128193368 128193368 C T rs11245008 C10orf90 Nonsynonymous SNV R134H 0.113 0.122 0.153 25 133 47 0.064 45 5 3 4 2 0.058 829 chr1 16056364 16056364 G A rs3817269 PLEKHM2 Synonymous SNV T716T 0.261 0.247 0.265 98 307 95 0.251 78 39 11 11 14 14.32 830 chr10 127724778 127724778 A G rs1044122 ADAM12 Synonymous SNV A822A 0.169 0.18 0.187 64 198 69 0.164 55 17 6 4 7 1.119 831 chr10 129911856 129911856 C G rs11016076 MKI67 Nonsynonymous SNV E137D 0.155 0.154 0.129 64 182 59 0.164 38 18 6 2 5 22.6 832 chr1 16073524 16073524 C A rs55947911 TMEM82 Nonsynonymous SNV T307N 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 2.633 833 chr10 129913960 129913960 A T rs7095325 MKI67 Nonsynonymous SNV W238R 0.219 0.206 0.18 99 257 79 0.254 53 26 10 5 13 1.368 834 chr1 16096934 16096934 C T rs10927851 FBLIM1 Nonsynonymous SNV S94F 0.645 0.591 0.578 252 757 227 0.646 170 246 66 58 79 32 835 chr10 128830409 128830409 A G rs2229597 DOCK1 Synonymous SNV A579A 0.246 0.263 0.269 77 289 101 0.197 79 32 11 11 7 0.839 836 chr10 131506192 131506192 C T rs1803965 MGMT Synonymous SNV L53L 0.14 0.143 0.112 54 164 55 0.138 33 15 3 2 4 9.892 837 chr1 15546077 15546077 G A rs3753313 TMEM51 Synonymous SNV P200P 0.336 0.305 0.313 110 395 117 0.282 92 62 18 15 14 12.11 838 chr1 16256007 16256007 T C rs848209 SPEN Nonsynonymous SNV L1091P 0.592 0.596 0.595 209 695 229 0.536 175 207 64 49 65 0.043 839 chr10 128974220 128974220 G A rs11594560 INSYN2A Nonsynonymous SNV A147V 0.189 0.154 0.231 77 222 59 0.197 68 27 6 11 6 0.174 840 chr10 131506283 131506283 C T rs12917 MGMT Nonsynonymous SNV L84F 0.144 0.148 0.136 56 169 57 0.144 40 16 3 2 4 10.23 841 chr1 15616139 15616139 G A rs486557 FHAD1 Nonsynonymous SNV R182H 0.415 0.344 0.384 153 487 132 0.392 113 111 26 26 22 0.004 842 chr10 128153496 128153496 C T C10orf90 Nonsynonymous SNV V435M 0.003 0 0 4 3 0 0.01 0 0 0 0 0 2.058 843 chr10 13151224 13151224 G A rs2234968 OPTN Synonymous SNV T34T 0.347 0.326 0.357 117 407 125 0.3 105 80 20 20 17 Benign 11.51 844 chr1 16259813 16259813 A G rs848210 SPEN Nonsynonymous SNV N2360D 0.591 0.596 0.599 209 694 229 0.536 176 206 64 49 65 0.01 845 chr10 129216658 129216658 T C rs2229600 DOCK1 Synonymous SNV I1515I 0.269 0.307 0.252 97 316 118 0.249 74 35 13 4 17 8.316 846 chr1 15653503 15653503 A G rs7532559 FHAD1-AS1 0.299 0.286 0.286 115 351 110 0.295 84 49 16 12 17 1.813 847 chr10 131641585 131641585 T C MIR4297 0 0 0.003 0 0 0 0 1 0 0 0 0 4.831 848 chr10 13166076 13166076 A G rs523747 OPTN Nonsynonymous SNV K322E 0.998 0.995 0.99 388 1172 382 0.995 291 585 190 145 193 Benign 12.24 849 chr1 15653563 15653563 C T rs3765357 FHAD1 Synonymous SNV H494H 0.278 0.255 0.272 102 326 98 0.262 80 40 13 11 16 14.74 850 chr10 129242515 129242515 G A rs11371 DOCK1 Synonymous SNV R1795R 0.388 0.357 0.32 144 456 137 0.369 94 92 23 14 27 11.61 851 chr1 16271260 16271260 G A rs9661939 ZBTB17 Synonymous SNV F252F 0.369 0.365 0.405 122 433 140 0.313 119 76 27 21 22 9.692 852 chr10 126673560 126673560 - A rs535580590 ZRANB1 X709delinsX 0.071 0.073 0.082 19 83 28 0.049 24 5 0 0 0 853 chr1 15654737 15654737 - T rs144888008 FHAD1-AS1 0.238 0.229 0.071 96 279 88 0.246 21 28 11 3 8 854 chr10 13230950 13230950 C T rs2296222 MCM10 Synonymous SNV L429L 0.191 0.185 0.235 98 224 71 0.251 69 31 7 6 9 4.437 855 chr10 126715075 126715075 T C rs3781413 CTBP2 Synonymous SNV A418A 0.109 0.102 0.116 33 128 39 0.085 34 12 3 1 2 0.039 856 chr1 16272250 16272250 A G rs848217 ZBTB17 Synonymous SNV A125A 0.53 0.549 0.514 185 622 211 0.474 151 165 56 36 53 6.037 857 chr1 15668276 15668276 G A rs763821 FHAD1 Nonsynonymous SNV G651R 0.391 0.359 0.367 150 459 138 0.385 108 83 28 22 33 8.031 858 chr10 13264107 13264107 G C rs140771568 UCMA Nonsynonymous SNV T84S 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 14.54 859 chr1 16451767 16451767 G A rs3754334 EPHA2 Synonymous SNV I904I 0.303 0.294 0.33 119 356 113 0.305 97 52 16 17 20 Benign 16.34 860 chr1 16458317 16458317 G T rs55869078 EPHA2 Synonymous SNV R738R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 13.63 861 chr1 15723843 15723843 G A rs2294490 FHAD1 Synonymous SNV L1391L 0.435 0.443 0.439 187 511 170 0.479 129 117 36 22 46 1.245 862 chr10 13275553 13275553 T G rs3829925 UCMA Synonymous SNV R69R 0.896 0.93 0.857 344 1052 357 0.882 252 472 167 107 153 1.657 863 chr10 126715159 126715159 - GCCGCAGGCTGGGGCTGCAGG rs372118432 CTBP2 A390_P391insLQPQPAA 0.084 0.078 0.102 28 99 30 0.072 30 12 3 1 2 864 chr1 16464490 16464490 G A rs113173342 EPHA2 Synonymous SNV H336H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 1.086 865 chr10 13330402 13330402 T C rs473407 PHYH Synonymous SNV T112T 0.211 0.18 0.211 66 248 69 0.169 62 26 7 7 2 Benign 0.037 866 chr10 126715436 126715436 C T rs3781411 CTBP2 Nonsynonymous SNV R298Q 0.119 0.112 0.136 35 140 43 0.09 40 12 3 1 2 33 867 chr1 16464673 16464673 G A rs2230597 EPHA2 Synonymous SNV P275P 0.481 0.477 0.446 188 565 183 0.482 131 136 44 33 38 Benign 6.919 868 chr10 13337588 13337588 G A rs1747682 PHYH Synonymous SNV N51N 1 0.997 0.99 389 1174 383 0.997 291 587 191 145 194 Benign 12.07 869 chr10 129845924 129845924 G A rs41282856 PTPRE Synonymous SNV R4R 0.007 0 0.02 0 8 0 0 6 0 0 0 0 9.486 870 chr10 133607895 133607895 T A rs77814414 LINC01164 0 0 0.048 0 0 0 0 14 0 0 0 0 3.401 871 chr1 16475123 16475123 C T rs6678616 EPHA2 Synonymous SNV L137L 0.368 0.349 0.364 155 432 134 0.397 107 82 24 22 27 Benign 9.903 872 chr10 133607904 133607904 G A rs4897781 LINC01164 0 0 0.435 0 0 0 0 128 0 0 45 0 12.72 873 chr10 129903604 129903604 T G rs770104195 MKI67 Nonsynonymous SNV K1807T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.153 874 chr1 16475126 16475126 C T rs6678618 EPHA2 Synonymous SNV A136A 0.368 0.349 0.364 155 432 134 0.397 107 82 24 22 27 Benign 14.56 875 chr10 133607947 133607947 T G rs4897740 LINC01164 0 0 0.49 0 0 0 0 144 0 0 46 0 2.253 876 chr10 129871690 129871690 A G rs2275803 PTPRE Synonymous SNV K298K 0.177 0.169 0.201 85 208 65 0.218 59 12 3 6 10 9.246 877 chr1 16532803 16532803 G A rs221050 ARHGEF19 Synonymous SNV S390S 0.296 0.253 0.303 121 347 97 0.31 89 58 13 17 19 10.6 878 chr10 129903802 129903802 A G rs11016073 MKI67 Nonsynonymous SNV I1741T 0.244 0.263 0.218 88 286 101 0.226 64 34 20 5 14 3.18 879 chr10 133608210 133608210 A G rs4897741 LINC01164 0 0 0.534 0 0 0 0 157 0 0 45 0 0.006 880 chr1 16534255 16534255 C G rs221057 ARHGEF19 Nonsynonymous SNV E238Q 0.296 0.253 0.296 122 347 97 0.313 87 58 13 17 19 13.98 881 chr10 133608355 133608355 G A rs72847043 LINC01164 0 0 0.075 0 0 0 0 22 0 0 0 0 3.239 882 chr10 129904560 129904560 C T rs2853346 MKI67 Synonymous SNV T1488T 0.308 0.328 0.276 127 362 126 0.326 81 53 26 10 22 11.97 883 chr10 13375906 13375906 T C rs10752297 SEPHS1 Synonymous SNV T90T 0.6 0.568 0.534 233 704 218 0.597 157 201 63 41 67 4.111 884 chr10 129160458 129160458 G A rs2296635 DOCK1 Synonymous SNV S1138S 0.195 0.221 0.245 86 229 85 0.221 72 17 13 6 8 13.72 885 chr10 129350856 129350856 G C rs4751440 NPS Nonsynonymous SNV V75L 0.14 0.117 0.116 42 164 45 0.108 34 10 3 2 0 24.3 886 chr10 129866449 129866449 C G rs7100666 PTPRE Synonymous SNV P82P 0.052 0.052 0.061 27 61 20 0.069 18 2 1 1 1 13.74 887 chr10 133948634 133948634 T C rs2814182 JAKMIP3 Synonymous SNV N241N 0.698 0.648 0.697 239 820 249 0.613 205 289 79 71 74 0.083 888 chr10 1262979 1262979 C T rs374363014 ADARB2 Nonsynonymous SNV V532M 0.003 0 0 0 3 0 0 0 0 0 0 0 32 889 chr10 129917560 129917560 T C rs2071498 MKI67 Nonsynonymous SNV N104S 0.663 0.695 0.622 266 778 267 0.682 183 259 96 57 92 12.17 890 chr10 133950642 133950642 T C rs75996870 JAKMIP3 Synonymous SNV D340D 0.038 0.044 0.014 15 45 17 0.038 4 0 0 0 0 0.036 891 chr1 16641899 16641899 C T rs2273311 FBXO42 Synonymous SNV S5S 0.45 0.474 0.361 161 528 182 0.413 106 120 39 20 30 15.22 892 chr10 133981682 133981682 G A rs4880338 JAKMIP3 Nonsynonymous SNV G920R 0.523 0.453 0.51 196 614 174 0.503 150 162 33 38 48 6.311 893 chr1 16736526 16736526 T G rs12087671 SPATA21 Nonsynonymous SNV I30L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.679 894 chr10 134013990 134013990 G A rs2247705 DPYSL4 Synonymous SNV A314A 0.817 0.818 0.823 314 959 314 0.805 242 399 129 100 127 7.944 895 chr10 129690826 129690826 A T rs35070529 CLRN3 Nonsynonymous SNV F75I 0.081 0.083 0.082 39 95 32 0.1 24 6 1 0 1 25.5 896 chr10 134017388 134017388 C G rs1052556 DPYSL4 Synonymous SNV V528V 0.144 0.164 0.143 60 169 63 0.154 42 9 5 2 3 7.911 897 chr1 16737328 16737328 A G rs150645786 SPATA21 Nonsynonymous SNV V7A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.409 898 chr10 134021576 134021576 C T rs55812591 STK32C Nonsynonymous SNV E480K 0.036 0.026 0.014 7 42 10 0.018 4 2 0 0 0 22.7 899 chr1 17281235 17281235 G A rs41272737 CROCC Nonsynonymous SNV V1110M 0.039 0.042 0.017 14 46 16 0.036 5 0 0 0 0 14.18 900 chr1 16070763 16070763 C T rs61740772 TMEM82 Nonsynonymous SNV R149C 0 0.005 0.01 1 0 2 0.003 3 0 0 0 0 23.4 901 chr10 129903465 129903465 A G rs2857028 MKI67 Synonymous SNV H1853H 0.269 0.263 0.252 97 316 101 0.249 74 44 16 12 13 0.808 902 chr10 13152400 13152400 T A rs11258194 OPTN Nonsynonymous SNV M98K 0.032 0.036 0.034 17 38 14 0.044 10 1 0 0 1 Benign/Likely benign 3.196 903 chr10 134143942 134143942 C T rs1052281 STK32C Synonymous SNV Q101Q 0.426 0.448 0.415 159 500 172 0.408 122 109 35 29 38 6.541 904 chr10 134143985 134143985 G T rs1132165 STK32C Nonsynonymous SNV S102R 0.396 0.409 0.388 153 465 157 0.392 114 88 29 27 34 6.559 905 chr10 129904917 129904917 G A rs1894410 MKI67 Synonymous SNV N1369N 0.146 0.141 0.197 55 171 54 0.141 58 10 5 10 5 4.621 906 chr1 17281850 17281850 G A rs762876230 CROCC Nonsynonymous SNV R1170H 0 0 0 0 0 0 0 0 0 0 0 0 24.9 907 chr10 134143986 134143986 C T rs1132164 STK32C Nonsynonymous SNV S102N 0.396 0.409 0.388 153 465 157 0.392 114 88 29 27 34 5.062 908 chr10 129905896 129905896 T A rs3740423 MKI67 Nonsynonymous SNV E1043V 0.217 0.214 0.211 84 255 82 0.215 62 26 10 9 8 22.2 909 chr1 17287301 17287301 A G rs76576326 CROCC Nonsynonymous SNV T1361A 0.039 0.042 0 15 46 16 0.038 0 0 0 0 0 0.644 910 chr10 134145136 134145136 A G rs7086691 STK32C Synonymous SNV G35G 0.38 0.401 0.384 151 446 154 0.387 113 76 29 27 33 3.692 911 chr1 16255644 16255644 C T rs848208 SPEN Nonsynonymous SNV A970V 0.094 0.128 0.071 42 110 49 0.108 21 6 4 1 1 0.608 912 chr10 129906980 129906980 C T rs2152143 MKI67 Nonsynonymous SNV G682S 0.27 0.263 0.255 97 317 101 0.249 75 45 16 12 13 12.53 913 chr10 134145138 134145138 C G rs7080014 STK32C Nonsynonymous SNV G35R 0.38 0.401 0.384 151 446 154 0.387 113 76 29 27 33 8.916 914 chr1 17292223 17292223 G A rs78888579 CROCC Nonsynonymous SNV G1471R 0.041 0.042 0.003 15 48 16 0.038 1 0 0 0 0 18.54 915 chr10 129907610 129907610 G A rs34916904 MKI67 Nonsynonymous SNV R472W 0.042 0.031 0.048 18 49 12 0.046 14 0 1 0 1 24.5 916 chr10 134145153 134145153 G A rs7100410 STK32C Nonsynonymous SNV H30Y 0.257 0.273 0.231 96 302 105 0.246 68 35 14 9 15 0.56 917 chr10 129845730 129845730 C T rs114845417 PTPRE Synonymous SNV L62L 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 11.12 918 chr1 17295679 17295679 T C rs4920574 CROCC Synonymous SNV A1715A 0.888 0.901 0.898 349 1043 346 0.895 264 464 154 120 155 9.353 919 chr10 129904474 129904474 G A rs61738284 MKI67 Nonsynonymous SNV P1517L 0.07 0.07 0.061 44 82 27 0.113 18 4 1 0 0 0.19 920 chr10 13340236 13340236 G A rs28938169 PHYH Nonsynonymous SNV P29S 0.107 0.12 0.163 54 126 46 0.138 48 5 3 2 6 Benign 8.008 921 chr10 134145166 134145166 T C rs13882 STK32C Synonymous SNV E25E 0.386 0.401 0.378 150 453 154 0.385 111 79 29 27 32 4.819 922 chr1 17295764 17295764 A G rs56278097 CROCC Nonsynonymous SNV S1744G 0.042 0.042 0.02 16 49 16 0.041 6 0 0 0 0 15.49 923 chr10 134147172 134147172 G A rs12414718 LRRC27 Synonymous SNV P48P 0.07 0.073 0.065 30 82 28 0.077 19 3 0 0 0 3.719 924 chr10 134161633 134161633 A G rs2474328 LRRC27 Synonymous SNV P106P 0.77 0.794 0.762 306 904 305 0.785 224 355 120 86 121 8.322 925 chr1 17380497 17380497 G T rs2746462 SDHB Synonymous SNV A6A 0.964 0.971 0.915 379 1132 373 0.972 269 546 181 130 184 Benign 2.514 926 chr1 16260916 16260916 C T rs848211 SPEN Synonymous SNV A2727A 0.094 0.13 0.071 41 110 50 0.105 21 6 4 1 1 6.414 927 chr1 17396703 17396703 T C rs2076595 PADI2 Synonymous SNV L548L 0.573 0.607 0.602 227 673 233 0.582 177 196 70 51 69 7.644 928 chr1 16261814 16261814 C A rs41269151 SPEN Synonymous SNV R3027R 0.015 0.031 0.024 3 18 12 0.008 7 0 0 0 0 10.47 929 chr10 134180354 134180354 G A rs45513097 LRRC27 Nonsynonymous SNV R347Q 0.07 0.073 0.065 29 82 28 0.074 19 3 0 0 0 0.025 930 chr1 17402255 17402255 C T rs3818032 PADI2 Synonymous SNV A458A 0.66 0.68 0.704 262 775 261 0.672 207 263 87 70 90 19.35 931 chr10 133954011 133954011 C T rs2818387 JAKMIP3 Synonymous SNV D395D 0.468 0.427 0.49 167 549 164 0.428 144 135 35 37 34 8.863 932 chr1 16262404 16262404 C T rs61749277 SPEN Synonymous SNV S3223S 0.094 0.13 0.071 41 110 50 0.105 21 6 4 1 1 12.85 933 chr10 134218269 134218269 C T rs11146363 PWWP2B Nonsynonymous SNV R89C 0.643 0.677 0.527 249 755 260 0.638 155 243 91 43 76 12.26 934 chr10 129905429 129905429 C T rs7918199 MKI67 Nonsynonymous SNV V1199M 0.07 0.07 0.061 42 82 27 0.108 18 4 1 0 0 17.82 935 chr10 131959150 131959150 C T rs2274217 GLRX3 Nonsynonymous SNV P123S 0.317 0.346 0.303 126 372 133 0.323 89 59 21 9 20 6.858 936 chr1 17405809 17405809 G A rs2057096 PADI2 Synonymous SNV N420N 0.561 0.599 0.592 224 659 230 0.574 174 187 70 49 66 12.43 937 chr10 133955427 133955427 A G rs11592585 JAKMIP3 Nonsynonymous SNV M421V 0.276 0.234 0.289 100 324 90 0.256 85 47 9 13 9 7.352 938 chr10 13239651 13239651 A G rs2274110 MCM10 Nonsynonymous SNV K668R 0.187 0.161 0.156 79 219 62 0.203 46 26 3 5 6 25 939 chr1 17555508 17555508 G T rs2977234 PADI1 Synonymous SNV T297T 0.325 0.352 0.279 140 382 135 0.359 82 64 20 16 23 8.85 940 chr10 134218296 134218296 C G rs10747057 PWWP2B Nonsynonymous SNV R98G 0.552 0.555 0.452 219 648 213 0.562 133 175 57 31 60 4.994 941 chr10 129906364 129906364 G A rs4750685 MKI67 Nonsynonymous SNV T887I 0.07 0.07 0.061 42 82 27 0.108 18 4 1 0 0 15.79 942 chr10 13214753 13214753 G C rs34630110 MCM10 Nonsynonymous SNV A194P 0.071 0.049 0.054 29 83 19 0.074 16 3 0 2 0 0.085 943 chr10 133961494 133961494 C T rs2818384 JAKMIP3 Synonymous SNV H522H 0.597 0.552 0.595 209 701 212 0.536 175 218 55 54 56 10.78 944 chr1 17557133 17557133 A C rs3003406 PADI1 Synonymous SNV R374R 0.396 0.341 0.388 142 465 131 0.364 114 96 26 23 30 4.488 945 chr10 129906607 129906607 A G rs41305024 MKI67 Nonsynonymous SNV L806P 0.027 0.031 0.048 14 32 12 0.036 14 0 0 0 1 1.818 946 chr10 134219036 134219036 G A rs11817589 PWWP2B Synonymous SNV E344E 0.046 0.039 0.102 18 54 15 0.046 30 1 0 0 0 0.649 947 chr1 17609448 17609448 G T rs2293920 PADI3 Synonymous SNV P623P 0.48 0.479 0.459 166 563 184 0.426 135 134 42 32 33 10.68 948 chr10 13230934 13230934 C T rs7904071 MCM10 Synonymous SNV S423S 0.085 0.081 0.071 29 100 31 0.074 21 4 0 3 0 12.24 949 chr10 134219045 134219045 C T rs11146364 PWWP2B Synonymous SNV P347P 0.085 0.068 0.126 36 100 26 0.092 37 5 1 0 0 11.72 950 chr1 17657534 17657534 G A rs11203366 PADI4 Nonsynonymous SNV G55S 0.56 0.581 0.585 228 657 223 0.585 172 179 70 50 73 association 0.002 951 chr10 13234356 13234356 A T rs7905784 MCM10 Nonsynonymous SNV T540S 0.085 0.086 0.071 29 100 33 0.074 21 4 0 3 0 0.014 952 chr10 134598628 134598628 A G rs2804003 NKX6-2 Nonsynonymous SNV V209A 0.929 0.935 0.918 368 1091 359 0.944 270 505 169 126 174 10.19 953 chr10 133918372 133918372 G A rs10870252 JAKMIP3 Synonymous SNV A20A 0.148 0.159 0.153 42 174 61 0.108 45 13 3 4 4 13.42 954 chr10 134017295 134017295 A G rs12313 DPYSL4 Synonymous SNV G497G 0.793 0.786 0.714 312 931 302 0.8 210 370 118 88 125 4.215 955 chr1 16532498 16532498 G A rs41269185 ARHGEF19 Nonsynonymous SNV P460L 0.109 0.117 0.122 40 128 45 0.103 36 12 4 3 2 32 956 chr10 129910475 129910475 T G rs997983 MKI67 Nonsynonymous SNV I271L 0.073 0.07 0.061 42 86 27 0.108 18 4 1 0 0 0.005 957 chr1 17657616 17657616 T C rs11203367 PADI4 Nonsynonymous SNV V82A 0.56 0.581 0.585 227 657 223 0.582 172 179 70 50 72 association 0.005 958 chr10 134036193 134036193 A G rs2818401 STK32C Synonymous SNV R414R 0.775 0.771 0.762 299 910 296 0.767 224 353 112 87 112 7.312 959 chr10 134622408 134622408 T C rs2767434 CFAP46 Synonymous SNV R2555R 0.658 0.604 0.636 238 772 232 0.61 187 274 72 64 73 0.043 960 chr10 13151245 13151245 G A rs11591687 OPTN Synonymous SNV L41L 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 Benign 8.421 961 chr10 134143486 134143486 - C rs11409148 STK32C Frameshift insertion Q106Afs*20 0.425 0.451 0 159 499 173 0.408 0 109 36 0 38 962 chr10 133761285 133761285 G A rs34473884 PPP2R2D Nonsynonymous SNV G193S 0.166 0.135 0.19 78 195 52 0.2 56 16 5 3 9 24.6 963 chr10 134623959 134623959 T C rs2254419 CFAP46 Nonsynonymous SNV S2540G 0.712 0.656 0.684 268 836 252 0.687 201 303 84 71 92 0.001 964 chr1 17660499 17660499 G C rs874881 PADI4 Nonsynonymous SNV G112A 0.549 0.57 0.568 219 644 219 0.562 167 175 67 47 67 association 13.29 965 chr10 13364914 13364914 C G rs62641685 SEPHS1 Synonymous SNV V228V 0.027 0.023 0.017 17 32 9 0.044 5 1 0 0 0 14.34 966 chr10 129347785 129347785 C T rs990310 NPS Nonsynonymous SNV S14L 0.042 0.031 0.027 20 49 12 0.051 8 2 0 0 0 0.006 967 chr10 133795391 133795391 A C rs11556626 BNIP3 Nonsynonymous SNV S39A 0.096 0.083 0 36 113 32 0.092 0 6 1 0 2 1.188 968 chr10 134626293 134626293 C A rs3750587 CFAP46 Nonsynonymous SNV L2499F 0.032 0.034 0.031 11 38 13 0.028 9 0 0 0 0 16.46 969 chr1 17662662 17662662 T C rs1748033 PADI4 Synonymous SNV L117L 0.616 0.617 0.629 241 723 237 0.618 185 220 77 57 78 association 0.524 970 chr1 16534646 16534646 C G rs221058 ARHGEF19 Nonsynonymous SNV G163R 0.29 0.25 0.299 121 341 96 0.31 88 58 12 17 18 18.81 971 chr10 133918420 133918420 G A rs11146177 JAKMIP3 Synonymous SNV Q36Q 0.168 0.195 0.16 79 197 75 0.203 47 15 7 4 9 9.371 972 chr1 17674537 17674537 C A rs2240335 PADI4 Synonymous SNV R383R 0.394 0.385 0.395 134 463 148 0.344 116 93 30 22 23 14.64 973 chr10 134646988 134646988 C T rs4880433 CFAP46 Nonsynonymous SNV A2331T 0.376 0.406 0.388 145 442 156 0.372 114 93 28 25 24 12.56 974 chr10 133963499 133963499 C T rs117391524 JAKMIP3 Nonsynonymous SNV A580V 0.106 0.122 0.112 41 124 47 0.105 33 4 3 1 2 18.23 975 chr10 129690837 129690837 G T rs35890579 CLRN3 Nonsynonymous SNV P71Q 0.022 0.044 0.037 11 26 17 0.028 11 0 0 0 0 11.59 976 chr1 17718672 17718672 G - rs10709483 PADI6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 977 chr10 134648279 134648279 C T rs12356978 CFAP46 Nonsynonymous SNV E2249K 0.032 0.044 0.041 11 37 17 0.028 12 0 2 0 1 11.09 978 chr1 16577908 16577908 G C rs12069239 FBXO42 Nonsynonymous SNV P471A 0.268 0.286 0.337 95 315 110 0.244 99 44 15 17 10 0.011 979 chr1 17739586 17739586 G A rs942457 RCC2 Synonymous SNV I432I 0.307 0.313 0.286 120 361 120 0.308 84 53 15 12 17 13.78 980 chr1 17914122 17914122 G A rs35497285 ARHGEF10L Nonsynonymous SNV D69N 0.12 0.112 0.075 36 141 43 0.092 22 7 3 1 1 14.28 981 chr10 134682855 134682855 C T rs7908950 CFAP46 Synonymous SNV E1511E 0.375 0.398 0.388 144 440 153 0.369 114 91 26 25 22 2.796 982 chr1 16727305 16727305 - CTT rs139527123 SPATA21 K338_L339insK 0.112 0.107 0.146 40 131 41 0.103 43 10 3 4 2 983 chr10 133109584 133109584 - GCG rs769972599 TCERG1L A105_H106insA 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 984 chr10 134722022 134722022 A G rs7075277 CFAP46 Synonymous SNV C958C 0.492 0.516 0.51 194 578 198 0.497 150 146 49 39 43 0.009 985 chr1 16736132 16736132 T C rs4661746 SPATA21 Nonsynonymous SNV Q161R 0.262 0.258 0.173 97 308 99 0.249 51 39 11 8 13 0.027 986 chr1 17934319 17934319 C T rs114551094 ARHGEF10L Synonymous SNV Y152Y 0.05 0.036 0.024 21 59 14 0.054 7 1 0 0 0 9.298 987 chr10 134726621 134726621 G C rs4880467 CFAP46 Synonymous SNV A754A 0.342 0.383 0.34 129 401 147 0.331 100 72 31 21 19 7.229 988 chr1 17991052 17991052 T C rs6695710 ARHGEF10L Nonsynonymous SNV W694R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.97 989 chr10 134735672 134735672 A G rs7915371 CFAP46 Synonymous SNV N514N 0.496 0.516 0.51 181 582 198 0.464 150 157 47 40 41 0.033 990 chr1 17282573 17282573 G A rs2273114 CROCC Synonymous SNV G1262G 0.101 0.12 0.071 37 118 46 0.095 21 11 4 1 4 9.962 991 chr10 134736026 134736026 G A rs4880286 CFAP46 Synonymous SNV A481A 0.363 0.414 0.296 116 426 159 0.297 87 84 31 19 17 1.096 992 chr10 134736052 134736052 G T rs4880287 CFAP46 Nonsynonymous SNV R473S 0.362 0.414 0.299 119 425 159 0.305 88 84 31 19 17 22.5 993 chr1 18023365 18023365 C T rs2270978 ARHGEF10L Synonymous SNV N813N 0.833 0.852 0.844 312 978 327 0.8 248 408 137 105 123 14.42 994 chr1 17301780 17301780 A G rs761422 MFAP2 Synonymous SNV H143H 0.468 0.458 0.449 191 549 176 0.49 132 137 39 27 48 1.48 995 chr1 18023509 18023509 T C rs2270977 ARHGEF10L Synonymous SNV D861D 0.834 0.854 0.847 311 979 328 0.797 249 409 138 105 122 0.007 996 chr10 134736076 134736076 T G rs4880288 CFAP46 Nonsynonymous SNV I465L 0.499 0.521 0.459 181 586 200 0.464 135 158 49 39 42 0.004 997 chr1 17312743 17312743 C T rs3170740 ATP13A2 Nonsynonymous SNV A1072T 0.468 0.471 0.476 191 549 181 0.49 140 148 54 38 47 Benign 10.4 998 chr1 18023690 18023690 A G rs2270976 ARHGEF10L Nonsynonymous SNV I922V 0.836 0.852 0.85 314 982 327 0.805 250 412 137 106 123 5.618 999 chr10 134738232 134738232 A G rs4075501 CFAP46 Synonymous SNV A408A 0.496 0.518 0.507 182 582 199 0.467 149 157 48 40 42 0.184 1000 chr1 17313343 17313343 G A rs9435659 ATP13A2 Synonymous SNV A1020A 0.487 0.503 0.531 197 572 193 0.505 156 148 57 39 48 Benign 8.665 1001 chr10 134748331 134748331 C T rs12781609 CFAP46 Nonsynonymous SNV S264N 0.353 0.406 0.35 124 415 156 0.318 103 82 28 19 17 0.002 1002 chr1 19186129 19186129 G C rs9701796 TAS1R2 Nonsynonymous SNV S9C 0.774 0.75 0.833 299 909 288 0.767 245 352 108 102 117 0.001 1003 chr1 17313654 17313654 C T rs761421 ATP13A2 Synonymous SNV V946V 0.488 0.497 0.527 197 573 191 0.505 155 148 54 39 48 Benign 12.2 1004 chr10 129913804 129913804 G A rs149160550 MKI67 Nonsynonymous SNV R290C 0 0.005 0 0 0 2 0 0 0 0 0 0 0.225 1005 chr10 13481427 13481427 T A rs12415754 BEND7 Synonymous SNV S384S 0.32 0.357 0.337 140 376 137 0.359 99 64 24 19 22 0.46 1006 chr1 17314702 17314702 C T rs3738815 ATP13A2 Synonymous SNV S886S 0.226 0.214 0.19 81 265 82 0.208 56 29 6 4 7 Benign 16.87 1007 chr10 134942166 134942166 A G rs2806452 ADGRA1 Synonymous SNV S181S 0.44 0.448 0.425 187 517 172 0.479 125 117 41 28 42 0.002 1008 chr1 19201956 19201956 A G rs2230708 ALDH4A1 Synonymous SNV D409D 0.761 0.773 0.823 287 894 297 0.736 242 341 117 100 107 Benign 0.89 1009 chr10 134218532 134218532 G C rs61865566 PWWP2B Synonymous SNV V176V 0.039 0.023 0.014 15 46 9 0.038 4 3 1 0 0 0.335 1010 chr1 17314942 17314942 G A rs9435662 ATP13A2 Synonymous SNV G835G 0.487 0.5 0.527 197 572 192 0.505 155 148 54 39 48 Benign 14.74 1011 chr10 13494594 13494594 T C rs2277222 BEND7 Synonymous SNV V337V 0.306 0.352 0.327 137 359 135 0.351 96 60 24 18 20 3.263 1012 chr1 19202917 19202917 T C rs7550938 ALDH4A1 Synonymous SNV S350S 0.716 0.716 0.776 270 840 275 0.692 228 303 101 89 95 Benign 7.073 1013 chr1 17319011 17319011 G A rs2076603 ATP13A2 Synonymous SNV P600P 0.594 0.596 0.626 238 697 229 0.61 184 208 69 53 69 Benign 7.347 1014 chr10 134973995 134973995 G A rs71503783 KNDC1 Synonymous SNV A8A 0.317 0.328 0.279 128 372 126 0.328 82 56 23 11 23 12.42 1015 chr10 13378273 13378273 G C rs62641683 SEPHS1 Synonymous SNV L58L 0.011 0.013 0.02 5 13 5 0.013 6 0 0 0 0 10.43 1016 chr1 19202926 19202926 T C rs2230706 ALDH4A1 Synonymous SNV A347A 0.715 0.714 0.769 270 839 274 0.692 226 302 100 89 95 Benign 5.66 1017 chr10 134981837 134981837 T C rs2998151 KNDC1 Synonymous SNV N127N 0.659 0.656 0.65 248 774 252 0.636 191 262 82 62 81 0.451 1018 chr10 134459388 134459388 A G rs1133400 INPP5A Nonsynonymous SNV K45R 0.196 0.182 0.173 66 230 70 0.169 51 19 5 5 5 14.61 1019 chr10 13160905 13160905 G A rs369585614 OPTN Nonsynonymous SNV R215K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.46 1020 chr1 19411129 19411129 A G rs1043905 UBR4 Synonymous SNV H4959H 0.556 0.552 0.507 241 653 212 0.618 149 188 65 35 67 6.227 1021 chr10 134981942 134981942 C T rs3008303 KNDC1 Synonymous SNV A162A 0.461 0.477 0.452 190 541 183 0.487 133 129 44 32 41 4.96 1022 chr10 129921195 129921195 A T rs1063536 MKI67 Synonymous SNV P79P 0.055 0.057 0.048 35 65 22 0.09 14 3 1 0 1 0.023 1023 chr10 134997480 134997480 C T rs57510763 KNDC1 Synonymous SNV F204F 0.463 0.516 0.517 189 543 198 0.485 152 128 56 35 39 16.58 1024 chr10 134218175 134218175 C T rs111647732 PWWP2B Synonymous SNV V57V 0.064 0.07 0.109 40 75 27 0.103 32 2 0 3 2 13.29 1025 chr1 19413261 19413261 T A rs12584 UBR4 Nonsynonymous SNV M4867L 0.503 0.513 0.48 221 591 197 0.567 141 156 58 30 57 18.39 1026 chr10 134013906 134013906 C T rs56326856 DPYSL4 Synonymous SNV D286D 0.166 0.185 0.167 68 195 71 0.174 49 15 4 6 6 9.301 1027 chr10 134999602 134999602 G C rs3008393 KNDC1 Synonymous SNV T250T 0.819 0.836 0.881 330 962 321 0.846 259 429 146 115 144 1.107 1028 chr10 135000148 135000148 T C rs3810965 KNDC1 Synonymous SNV A432A 0.456 0.495 0.514 184 535 190 0.472 151 125 53 34 36 0.418 1029 chr10 131565064 131565064 A G rs2308321 MGMT Nonsynonymous SNV I143V 0.107 0.122 0.065 40 126 47 0.103 19 7 4 1 1 0.567 1030 chr10 135000159 135000159 A G rs3810964 KNDC1 Nonsynonymous SNV E436G 0.456 0.492 0.514 183 535 189 0.469 151 125 53 34 36 0.002 1031 chr1 19415304 19415304 C T rs1043899 UBR4 Synonymous SNV K4793K 0.503 0.513 0.469 221 591 197 0.567 138 156 58 30 57 16.98 1032 chr1 17550121 17550121 G A rs2293912 PADI1 Synonymous SNV R93R 0.122 0.104 0.146 68 143 40 0.174 43 10 2 5 5 7.127 1033 chr1 19433449 19433449 A G rs6426677 UBR4 Synonymous SNV V4039V 0.556 0.549 0.497 241 653 211 0.618 146 188 65 35 67 3.732 1034 chr10 131565170 131565170 A G rs2308327 MGMT Nonsynonymous SNV K178R 0.107 0.125 0.071 40 126 48 0.103 21 7 4 1 1 9.194 1035 chr10 13275764 13275764 A G rs41291317 UCMA Nonsynonymous SNV M32T 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 0.001 1036 chr10 135012162 135012162 T C rs2998139 KNDC1 Nonsynonymous SNV L717P 0.557 0.589 0.585 212 654 226 0.544 172 189 74 46 54 5.713 1037 chr10 134161517 134161517 C T rs2474329 LRRC27 Nonsynonymous SNV R68C 0.186 0.195 0.177 61 218 75 0.156 52 22 8 7 7 9.662 1038 chr1 19447819 19447819 T C rs35802543 UBR4 Synonymous SNV A3335A 0.061 0.063 0.085 33 72 24 0.085 25 0 3 0 2 5.935 1039 chr10 134219066 134219066 G C rs76595411 PWWP2B Synonymous SNV V354V 0.071 0.076 0.116 40 83 29 0.103 34 3 0 3 2 5.756 1040 chr10 135012429 135012429 T A rs3008390 KNDC1 Nonsynonymous SNV V806D 0.431 0.479 0.463 184 506 184 0.472 136 114 49 30 40 0.708 1041 chr1 19447843 19447843 C G rs1044010 UBR4 Synonymous SNV L3327L 0.504 0.516 0.483 221 592 198 0.567 142 157 58 30 57 10.55 1042 chr10 134624504 134624504 C T rs2274429 CFAP46 Synonymous SNV A2511A 0.33 0.294 0.306 133 387 113 0.341 90 69 20 18 20 12.65 1043 chr1 17597655 17597655 C T rs2293916 PADI3 Synonymous SNV R343R 0.122 0.12 0.133 43 143 46 0.11 39 8 4 1 4 13.78 1044 chr1 19499954 19499954 G A rs952790 UBR4 Synonymous SNV S1048S 0.06 0.06 0.082 32 71 23 0.082 24 0 3 0 2 8.29 1045 chr10 135012430 135012430 T C rs3008389 KNDC1 Synonymous SNV V806V 0.563 0.583 0.582 214 661 224 0.549 171 188 73 45 54 0.05 1046 chr1 17601165 17601165 C T rs11585357 PADI3 Synonymous SNV R397R 0.155 0.154 0.163 79 182 59 0.203 48 13 6 4 4 17.11 1047 chr1 19565338 19565338 C T rs709682 EMC1 Nonsynonymous SNV S325N 0.095 0.083 0.105 50 112 32 0.128 31 2 3 0 6 15.16 1048 chr10 134180353 134180353 C T rs45626936 LRRC27 Nonsynonymous SNV R347W 0.194 0.198 0.19 67 228 76 0.172 56 22 9 7 6 4.692 1049 chr10 135012652 135012652 T C rs3008388 KNDC1 Synonymous SNV D880D 0.459 0.516 0.49 190 539 198 0.487 144 129 55 33 42 0.128 1050 chr10 135051562 135051562 A G rs2998143 VENTX Synonymous SNV P48P 0.532 0.516 0.585 209 624 198 0.536 172 220 74 60 68 0.044 1051 chr1 19565344 19565344 C G rs709683 EMC1 Nonsynonymous SNV S323T 0.291 0.289 0.248 124 342 111 0.318 73 54 18 7 20 16.28 1052 chr10 135061112 135061112 C T rs12355840 MIR202, MIR202HG 0 0 0.755 0 0 0 0 222 0 0 81 0 9.542 1053 chr10 135082346 135082346 A G rs2275720 ADAM8 Nonsynonymous SNV F592L 0.876 0.839 0.881 344 1028 322 0.882 259 446 133 114 152 0.001 1054 chr10 135085321 135085321 C T rs1131720 ADAM8 Synonymous SNV A326A 0.883 0.844 0.881 338 1037 324 0.867 259 455 135 116 147 12.14 1055 chr1 19584004 19584004 G A rs1042380 MRTO4 Synonymous SNV E110E 0.195 0.198 0.228 90 229 76 0.231 67 27 13 5 8 9.382 1056 chr10 135085426 135085426 A G rs1131719 ADAM8 Synonymous SNV C291C 0.888 0.854 0.891 347 1042 328 0.89 262 459 138 117 153 3.702 1057 chr10 134646950 134646950 G C rs35232450 CFAP46 Synonymous SNV L2343L 0.057 0.063 0.068 15 67 24 0.038 20 0 0 2 0 0.197 1058 chr1 19584997 19584997 G A rs139714257 MRTO4 Nonsynonymous SNV E174K 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 18.7 1059 chr10 135085754 135085754 G A rs1131718 ADAM8 Synonymous SNV T261T 0.871 0.826 0.864 332 1023 317 0.851 254 442 131 111 140 9.235 1060 chr10 135087521 135087521 G A rs3008326 ADAM8 Nonsynonymous SNV L46F 0.789 0.76 0.779 298 926 292 0.764 229 364 109 87 115 3.14 1061 chr1 19585207 19585207 G A rs2294939 MRTO4 Synonymous SNV K201K 0.09 0.086 0.112 49 106 33 0.126 33 4 2 0 5 13.15 1062 chr10 135089035 135089035 A G rs2275725 ADAM8 Nonsynonymous SNV W35R 0.885 0.852 0.884 345 1039 327 0.885 260 459 137 116 153 0.002 1063 chr1 19992372 19992372 G T rs8192529 HTR6 Synonymous SNV A42A 0.029 0.034 0.024 15 34 13 0.038 7 1 0 0 0 13.07 1064 chr10 135097434 135097434 A G rs2995326 TUBGCP2 Synonymous SNV F569F 0.888 0.852 0.884 347 1042 327 0.89 260 459 137 116 154 9.419 1065 chr1 20020993 20020993 A G rs4370779 TMCO4 Synonymous SNV R478R 0.831 0.826 0.813 323 976 317 0.828 239 407 135 98 134 0.005 1066 chr10 135098621 135098621 G A rs35736540 TUBGCP2 Synonymous SNV T534T 0.05 0.042 0.034 20 59 16 0.051 10 2 1 0 1 11.44 1067 chr1 17668563 17668563 G A rs35903413 PADI4 Nonsynonymous SNV D260N 0.112 0.117 0.119 62 131 45 0.159 35 5 4 2 2 6.67 1068 chr1 20020994 20020994 C T rs4515815 TMCO4 Nonsynonymous SNV R478H 0.65 0.659 0.633 262 763 253 0.672 186 253 85 64 88 8.358 1069 chr10 135098672 135098672 G A rs3008334 TUBGCP2 Synonymous SNV Y517Y 0.888 0.852 0.884 346 1042 327 0.887 260 459 137 116 153 5.766 1070 chr10 135112940 135112940 C T rs2298120 TUBGCP2 Synonymous SNV T19T 0.169 0.19 0.099 70 198 73 0.179 29 18 8 2 5 9.995 1071 chr1 20411332 20411332 C T rs2020887 PLA2G5 Synonymous SNV G3G 0.337 0.344 0.327 138 396 132 0.354 96 62 21 14 19 13.38 1072 chr10 135122507 135122507 G A rs3008357 ZNF511 Synonymous SNV P20P 0.175 0.198 0.129 73 205 76 0.187 38 22 8 4 7 11.2 1073 chr10 135010568 135010568 G A rs35152544 KNDC1 Nonsynonymous SNV G581S 0.057 0.055 0.054 16 67 21 0.041 16 1 1 0 0 3.554 1074 chr1 20442054 20442054 T C rs584367 PLA2G2D Nonsynonymous SNV S80G 0.647 0.615 0.612 243 760 236 0.623 180 242 69 59 80 0.001 1075 chr10 135165790 135165790 A G rs4369319 PRAP1 Nonsynonymous SNV H92R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.001 1076 chr1 17707601 17707601 T C rs6669650 PADI6 Synonymous SNV P165P 0.193 0.206 0.218 73 227 79 0.187 64 19 8 7 7 9.266 1077 chr10 135180430 135180430 A G rs2230261 ECHS1 Synonymous SNV T194T 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 6.728 1078 chr1 20490518 20490518 T C rs6426616 PLA2G2C Nonsynonymous SNV Q137R 0.542 0.568 0.602 223 636 218 0.572 177 171 63 51 58 0.055 1079 chr1 17961345 17961345 C T rs34725104 ARHGEF10L Synonymous SNV I290I 0.204 0.214 0.207 93 240 82 0.238 61 19 7 6 10 14.85 1080 chr10 135184126 135184126 G A rs1049951 ECHS1 Nonsynonymous SNV T75I 0.943 0.932 0.912 361 1107 358 0.926 268 522 166 121 166 Benign 8.433 1081 chr1 17981184 17981184 A C rs35255680 ARHGEF10L Synonymous SNV A519A 0.177 0.161 0.136 78 208 62 0.2 40 17 2 2 6 0.011 1082 chr1 20915701 20915701 A C rs2072671 CDA Nonsynonymous SNV K27Q 0.371 0.417 0.388 180 436 160 0.462 114 76 34 27 40 15.63 1083 chr10 135186806 135186806 A G rs10466126 ECHS1 Nonsynonymous SNV V11A 0.754 0.721 0.677 283 885 277 0.726 199 336 99 77 105 0.003 1084 chr1 17982559 17982559 G A rs867984 ARHGEF10L Synonymous SNV T592T 0.167 0.146 0.122 76 196 56 0.195 36 16 2 2 5 11.89 1085 chr1 20945055 20945055 C T rs1048977 CDA Synonymous SNV T145T 0.28 0.263 0.313 96 329 101 0.246 92 54 14 15 8 9.624 1086 chr10 135204950 135204950 C G rs1046175 PAOX Nonsynonymous SNV Q457E 0.86 0.885 0.82 346 1010 340 0.887 241 433 152 98 157 0.808 1087 chr1 20977000 20977000 A C rs1043424 PINK1 Nonsynonymous SNV N521T 0.25 0.221 0.255 83 293 85 0.213 75 44 7 14 6 Benign/Likely benign 14.4 1088 chr10 135032376 135032376 A G rs3008370 KNDC1 Synonymous SNV K1573K 0.14 0.203 0.15 67 164 78 0.172 44 13 7 4 7 9.906 1089 chr10 135205009 135205009 C G rs1046178 PAOX Synonymous SNV P476P 0.86 0.883 0.82 346 1010 339 0.887 241 433 151 98 157 4.638 1090 chr10 134137777 134137777 A G rs149851096 STK32C Synonymous SNV A134A 0.03 0.034 0.024 5 35 13 0.013 7 2 0 0 0 1.438 1091 chr10 135043802 135043802 C A rs7092433 UTF1 Synonymous SNV R4R 0.22 0.164 0 89 258 63 0.228 0 125 31 0 44 16.91 1092 chr10 135233541 135233541 A G rs2255246 MTG1 Nonsynonymous SNV I293V 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.002 1093 chr1 20977221 20977221 A T rs686658 PINK1-AS 0.909 0.896 0.905 350 1067 344 0.897 266 485 155 122 156 Benign 4.269 1094 chr1 20982631 20982631 G A rs4704 DDOST Synonymous SNV G122G 0.664 0.594 0.667 244 779 228 0.626 196 257 66 66 76 Benign 16.18 1095 chr10 134942340 134942340 C T rs10776696 ADGRA1 Synonymous SNV A239A 0.173 0.161 0.18 84 203 62 0.215 53 23 6 6 3 8.422 1096 chr10 135267445 135267445 T C rs2253522 SCART1 0 0 0.793 0 0 0 0 233 0 0 105 0 0.484 1097 chr10 135273463 135273463 C G rs731947 SCART1 0 0 0.908 0 0 0 0 267 0 0 123 0 8.152 1098 chr1 20987873 20987873 G C rs537816 DDOST Nonsynonymous SNV R8G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 18.06 1099 chr10 134151131 134151131 G T rs116451295 LRRC27 Synonymous SNV P91P 0.028 0.039 0.024 5 33 15 0.013 7 2 0 0 0 1.786 1100 chr10 134942832 134942832 G A rs45586231 ADGRA1 Synonymous SNV P403P 0.109 0.109 0.109 54 128 42 0.138 32 7 3 3 2 0.247 1101 chr1 18152582 18152582 C T rs478698 ACTL8 Synonymous SNV D223D 0.17 0.19 0.15 73 200 73 0.187 44 18 7 2 8 11.48 1102 chr10 135278193 135278193 A G rs2492654 SCART1 0 0 0.912 0 0 0 0 268 0 0 123 0 6.441 1103 chr1 18807897 18807897 C G rs2992755 KLHDC7A Nonsynonymous SNV P141R 0.599 0.609 0.609 244 703 234 0.626 179 200 74 59 70 0.607 1104 chr1 20992819 20992819 G C rs631357 KIF17 Nonsynonymous SNV D932E 0.853 0.833 0.874 328 1002 320 0.841 257 425 134 113 138 0.625 1105 chr10 135279810 135279810 T G rs2243909 SCART1 0 0 0.85 0 0 0 0 250 0 0 106 0 3.459 1106 chr1 18807953 18807953 C A rs11261022 KLHDC7A Nonsynonymous SNV R160S 0.35 0.385 0.361 138 411 148 0.354 106 73 31 18 19 1.144 1107 chr10 135087460 135087460 C T rs11101675 ADAM8 Nonsynonymous SNV R66Q 0.008 0.005 0.014 3 9 2 0.008 4 0 0 0 0 3.535 1108 chr10 135280765 135280765 C T rs2246634 SCART1 0 0 0.918 0 0 0 0 270 0 0 123 0 2.784 1109 chr1 21024901 21024901 C T rs522496 KIF17 Nonsynonymous SNV V402M 0.642 0.617 0.697 229 754 237 0.587 205 241 73 75 66 9.821 1110 chr1 18808292 18808292 C A rs2992753 KLHDC7A Nonsynonymous SNV H273N 0.599 0.609 0.609 243 703 234 0.623 179 200 74 59 70 4.482 1111 chr10 135347397 135347397 T C rs915909 CYP2E1 Synonymous SNV I321I 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 Benign 1.28 1112 chr10 134996869 134996869 G T rs11101618 KNDC1 Nonsynonymous SNV A128S 0.038 0.023 0.031 5 45 9 0.013 9 2 0 0 0 23.7 1113 chr10 13534851 13534851 A G rs2251555 BEND7 Synonymous SNV P160P 0.574 0.523 0.551 218 674 201 0.559 162 195 53 48 53 6.847 1114 chr1 21044161 21044161 A G rs601329 KIF17 Synonymous SNV R13R 0.681 0.63 0.687 266 800 242 0.682 202 283 76 68 94 11.21 1115 chr10 135051543 135051543 T C rs2240892 VENTX Nonsynonymous SNV L42P 0.109 0.094 0.099 41 128 36 0.105 29 13 4 2 2 0.004 1116 chr10 135351362 135351362 T C rs2515641 CYP2E1 Synonymous SNV F421F 0.845 0.805 0.799 321 992 309 0.823 235 415 122 93 134 Benign 0.041 1117 chr1 18808465 18808465 T A rs3007718 KLHDC7A Synonymous SNV A330A 0.599 0.609 0.609 243 703 234 0.623 179 200 74 59 70 9.96 1118 chr1 21050958 21050958 C T rs592060 SH2D5 Synonymous SNV Q103Q 0.789 0.729 0.779 300 926 280 0.769 229 371 102 87 113 0.458 1119 chr10 134996950 134996950 A G rs11101619 KNDC1 Nonsynonymous SNV S155G 0.037 0.018 0.031 5 44 7 0.013 9 2 0 0 0 11.15 1120 chr10 13653653 13653653 A G rs1135102 PRPF18 Synonymous SNV K183K 0.433 0.44 0.442 203 508 169 0.521 130 119 36 29 55 6.064 1121 chr1 21167404 21167404 A G rs2230573 EIF4G3 Synonymous SNV L1280L 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 5.715 1122 chr1 18808526 18808526 A C rs2992752 KLHDC7A Nonsynonymous SNV T351P 0.599 0.609 0.605 243 703 234 0.623 178 200 74 59 70 0.001 1123 chr10 15008493 15008493 A C rs4750568 MEIG1 Nonsynonymous SNV K9T 0.732 0.729 0.707 269 859 280 0.69 208 312 98 78 96 13.66 1124 chr10 135139635 135139635 G A rs2275723 CALY Nonsynonymous SNV P35L 0.111 0.135 0.095 52 130 52 0.133 28 7 4 1 2 13.83 1125 chr1 21573722 21573722 G A rs2229450 ECE1 Synonymous SNV T373T 0.256 0.253 0.238 108 301 97 0.277 70 28 12 10 16 Benign 11.93 1126 chr10 134996954 134996954 G A rs11101620 KNDC1 Nonsynonymous SNV R156Q 0.036 0.018 0.031 5 42 7 0.013 9 2 0 0 0 13.44 1127 chr1 19027239 19027239 A G rs2743201 PAX7 Synonymous SNV P293P 0.294 0.286 0.289 111 345 110 0.285 85 61 15 13 10 5.518 1128 chr10 15106441 15106441 A G rs10906818 OLAH Synonymous SNV L114L 0.508 0.469 0.5 197 596 180 0.505 147 150 44 35 46 0.117 1129 chr1 21625145 21625145 T C rs10916958 ECE1-AS1 0.235 0.242 0.265 104 276 93 0.267 78 40 9 13 13 1.727 1130 chr10 15256194 15256194 G A rs3814165 FAM171A1 Nonsynonymous SNV P465S 0.183 0.185 0.18 72 215 71 0.185 53 25 7 7 7 17.28 1131 chr1 21889635 21889635 T C rs1780316 ALPL Synonymous SNV S33S 0.943 0.943 0.929 365 1107 362 0.936 273 522 171 126 171 Benign 1.337 1132 chr1 19166294 19166294 G A rs12033832 TAS1R2 Synonymous SNV S773S 0.292 0.263 0.272 108 343 101 0.277 80 49 11 6 17 6.188 1133 chr10 135197650 135197650 C T rs141232448 PAOX Nonsynonymous SNV A352V 0.015 0.013 0.01 0 18 5 0 3 1 0 0 0 2.535 1134 chr1 21940555 21940555 C T rs2275363 RAP1GAP Nonsynonymous SNV A171T 0.44 0.411 0.415 164 516 158 0.421 122 112 34 27 36 18.37 1135 chr1 19166521 19166521 G A rs77071615 TAS1R2 Synonymous SNV L698L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.072 1136 chr10 135010635 135010635 G A rs41317288 KNDC1 Nonsynonymous SNV C603Y 0.042 0.023 0.031 5 49 9 0.013 9 2 0 0 0 10.92 1137 chr10 15573050 15573050 A G rs1041135 ITGA8 Nonsynonymous SNV V979A 0.997 0.995 0.997 389 1170 382 0.997 293 585 190 146 194 9.563 1138 chr1 19181015 19181015 G C rs34447754 TAS1R2 Nonsynonymous SNV R317G 0.365 0.362 0.354 151 429 139 0.387 104 92 27 21 31 10.02 1139 chr1 22141206 22141206 A C rs10917051 LDLRAD2 Nonsynonymous SNV N134T 0.693 0.74 0.694 241 813 284 0.618 204 277 108 73 73 0.914 1140 chr10 16547058 16547058 A G rs7904014 PTER Synonymous SNV Q97Q 0.547 0.596 0.571 225 642 229 0.577 168 169 63 45 64 5.392 1141 chr1 19181082 19181082 A C rs28470550 TAS1R2 Synonymous SNV T294T 0.365 0.362 0.357 151 429 139 0.387 105 92 27 22 31 0.004 1142 chr10 16943371 16943371 G C rs2796835 CUBN Nonsynonymous SNV S2717W 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 19.63 1143 chr1 19181264 19181264 T C rs139655863 TAS1R2 Nonsynonymous SNV I234V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.994 1144 chr1 22149935 22149935 T C rs897467 HSPG2 Synonymous SNV S4351S 0.839 0.841 0.844 333 985 323 0.854 248 417 134 105 141 Benign 9.302 1145 chr10 16979661 16979661 T C rs1801234 CUBN Synonymous SNV S1952S 0.422 0.422 0.388 141 495 162 0.362 114 98 30 22 26 Benign 0.015 1146 chr1 22191454 22191454 G A rs897471 HSPG2 Nonsynonymous SNV A1504V 0.796 0.781 0.799 300 934 300 0.769 235 374 120 94 118 Benign 23.3 1147 chr10 135020835 135020835 C G rs12028 KNDC1 Synonymous SNV L1258L 0.041 0.023 0.031 5 48 9 0.013 9 1 0 0 0 9.106 1148 chr1 19181393 19181393 T C rs35874116 TAS1R2 Nonsynonymous SNV I191V 0.365 0.362 0.361 152 428 139 0.39 106 90 27 22 32 0.001 1149 chr10 16979714 16979714 T C rs41289305 CUBN Nonsynonymous SNV S1935G 0.152 0.154 0.173 47 179 59 0.121 51 12 6 5 4 Benign/Likely benign 6.746 1150 chr10 135044625 135044625 G A rs536655330 UTF1 Synonymous SNV E235E 0.033 0.021 0.024 7 39 8 0.018 7 1 0 0 0 0.454 1151 chr1 22199245 22199245 C T rs2229482 HSPG2 Synonymous SNV V1300V 0.697 0.656 0.626 261 818 252 0.669 184 285 78 63 79 Benign 14.31 1152 chr10 17024503 17024503 G A rs1801231 CUBN Nonsynonymous SNV P1559S 0.813 0.794 0.867 313 954 305 0.803 255 384 119 110 125 Benign 10.54 1153 chr1 19184077 19184077 A G rs68081213 TAS1R2 Synonymous SNV F77F 0.368 0.365 0.361 153 432 140 0.392 106 90 27 22 32 4.894 1154 chr1 22206649 22206649 T C rs989994 HSPG2 Nonsynonymous SNV N766S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 16.97 1155 chr10 17024615 17024615 A T rs1801229 CUBN Synonymous SNV I1521I 0.813 0.794 0.867 313 954 305 0.803 255 384 119 110 125 Benign 3.52 1156 chr10 135368590 135368590 T C rs3737031 SYCE1 Nonsynonymous SNV H321R 0.104 0.102 0.078 29 122 39 0.074 23 6 1 0 0 1.269 1157 chr10 17152994 17152994 G A rs1801223 CUBN Synonymous SNV N313N 0.322 0.336 0.344 126 378 129 0.323 101 60 20 17 18 Benign 5.747 1158 chr1 22206942 22206942 G A rs1874793 HSPG2 Synonymous SNV A704A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 11.19 1159 chr10 17156151 17156151 A G rs1801222 CUBN Nonsynonymous SNV F253S 0.841 0.823 0.85 322 987 316 0.826 250 414 132 109 138 Benign 0.068 1160 chr1 22207235 22207235 T C rs1874792 HSPG2 Nonsynonymous SNV M639V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.002 1161 chr10 135369532 135369532 T C rs3747881 SYCE1 Nonsynonymous SNV K183R 0.104 0.102 0.085 31 122 39 0.079 25 6 1 0 0 1.12 1162 chr10 14867557 14867557 T G rs61843027 CDNF Synonymous SNV P102P 0.035 0.039 0.044 7 41 15 0.018 13 3 1 0 0 3.647 1163 chr10 17204187 17204187 G A rs11254413 TRDMT1 Nonsynonymous SNV H42Y 0.496 0.497 0.507 189 582 191 0.485 149 140 44 39 45 0.02 1164 chr1 22214127 22214127 A G rs2229478 HSPG2 Synonymous SNV L248L 0.272 0.286 0.303 108 319 110 0.277 89 46 11 12 10 Benign 0.034 1165 chr10 135370633 135370633 C T rs8181356 SYCE1 Synonymous SNV K134K 0.104 0.102 0.085 30 122 39 0.077 25 6 1 0 0 14.63 1166 chr10 13735947 13735947 A G rs2296596 FRMD4A Synonymous SNV G47G 0.097 0.117 0.133 30 114 45 0.077 39 7 2 3 1 16.28 1167 chr10 135370639 135370639 C A rs8181357 SYCE1 Nonsynonymous SNV E132D 0.104 0.102 0.085 29 122 39 0.074 25 6 1 0 0 18.26 1168 chr1 19203910 19203910 G A rs140704780 ALDH4A1 Synonymous SNV D319D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Uncertain significance 12.54 1169 chr10 17216556 17216556 C T rs2273734 TRDMT1 Nonsynonymous SNV R23Q 0.488 0.495 0.51 189 573 190 0.485 150 135 43 39 45 12.12 1170 chr1 22216574 22216574 C A rs2254358 HSPG2 Synonymous SNV G158G 0.726 0.716 0.69 279 852 275 0.715 203 311 94 69 96 Benign 12 1171 chr1 19203997 19203997 C G rs2230705 ALDH4A1 Synonymous SNV A290A 0.692 0.69 0.663 277 812 265 0.71 195 278 90 64 96 Benign 13.47 1172 chr10 17659131 17659131 C A rs11254692 HACD1 Nonsynonymous SNV V70F 1 1 0.942 389 1174 384 0.997 277 587 192 138 194 Benign 0.74 1173 chr10 15098897 15098897 C T rs12767853 OLAH Nonsynonymous SNV P80S 0.089 0.078 0.116 37 104 30 0.095 34 2 0 1 1 0.004 1174 chr1 22216604 22216604 C G rs2254357 HSPG2 Synonymous SNV L148L 0.723 0.716 0.69 279 849 275 0.715 203 311 94 69 96 Benign 12.14 1175 chr10 135089077 135089077 G A rs41283317 ADAM8 Nonsynonymous SNV R21W 0.047 0.039 0.027 9 55 15 0.023 8 1 0 0 0 20.6 1176 chr10 17659149 17659149 C T rs7895850 HACD1 Nonsynonymous SNV E64K 0.926 0.893 0.84 355 1087 343 0.91 247 503 158 123 160 9.835 1177 chr1 22217108 22217108 G A rs2501260 HSPG2 Synonymous SNV F108F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 11.69 1178 chr10 135094925 135094925 C T rs11101677 TUBGCP2 Nonsynonymous SNV A679T 0.048 0.042 0.024 9 56 16 0.023 7 1 0 0 0 13.12 1179 chr10 15145361 15145361 G A rs35539850 RPP38 Synonymous SNV T16T 0.156 0.154 0.163 69 183 59 0.177 48 11 6 7 4 7.631 1180 chr10 16562600 16562600 G A rs72772306 C1QL3 Synonymous SNV H155H 0.175 0.177 0.184 64 205 68 0.164 54 16 5 3 6 0.014 1181 chr1 22817114 22817114 G A rs6659222 ZBTB40 Nonsynonymous SNV A225T 0.015 0.016 0.003 5 18 6 0.013 1 1 0 0 0 7.409 1182 chr10 135345675 135345675 G A rs6413419 CYP2E1 Nonsynonymous SNV V179I 0.041 0.036 0.051 19 48 14 0.049 15 2 0 0 1 24.2 1183 chr10 18242304 18242304 T C rs691112 SLC39A12 Synonymous SNV D33D 0.911 0.896 0.905 363 1069 344 0.931 266 485 156 122 169 0.045 1184 chr10 15145855 15145855 C G rs15772 RPP38 Nonsynonymous SNV A181G 0.299 0.294 0.265 130 351 113 0.333 78 51 20 8 19 11.66 1185 chr10 18828635 18828635 T G rs58225473 CACNB2 Nonsynonymous SNV D600E 0.206 0.206 0.241 86 242 79 0.221 71 21 10 7 10 Benign 21.3 1186 chr10 135044009 135044009 G A rs11599284 UTF1 Nonsynonymous SNV G73R 0.083 0.115 0.058 46 98 44 0.118 17 5 1 0 3 24.4 1187 chr1 22835677 22835677 A G rs209729 ZBTB40 Nonsynonymous SNV Y483C 0.747 0.698 0.765 291 877 268 0.746 225 328 91 86 109 4.977 1188 chr1 19443876 19443876 C T rs61996287 UBR4 Synonymous SNV T3554T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 17.7 1189 chr10 19417181 19417181 T C rs11008573 MALRD1 Synonymous SNV G325G 0.213 0.198 0.194 83 250 76 0.213 57 24 6 9 7 Benign 2.725 1190 chr10 15138676 15138676 T C rs117129272 RPP38-DT 0.017 0.008 0.007 4 20 3 0.01 2 0 0 0 0 0.005 1191 chr10 19417208 19417208 G A rs78076387 MALRD1 Synonymous SNV R334R 0.053 0.055 0.065 11 62 21 0.028 19 3 0 1 0 Likely benign 9.051 1192 chr10 19425531 19425531 A G rs12779623 MALRD1 Nonsynonymous SNV Q411R 0.173 0.172 0.194 73 203 66 0.187 57 21 9 4 3 Benign 20.2 1193 chr1 22846709 22846709 G A rs209720 ZBTB40 Nonsynonymous SNV V885M 0.999 0.997 0.986 389 1173 383 0.997 290 586 191 143 194 14.26 1194 chr10 134980918 134980918 C T rs145440398 KNDC1 Nonsynonymous SNV R46W 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 28.5 1195 chr10 16918997 16918997 T C rs1801240 CUBN Nonsynonymous SNV E3002G 0.127 0.122 0.109 41 149 47 0.105 32 7 0 0 2 Benign 10.97 1196 chr10 19498278 19498278 G A rs2358355 MALRD1 Nonsynonymous SNV S887N 0.849 0.859 0.85 315 997 330 0.808 250 426 142 104 131 0.772 1197 chr1 22852715 22852715 G C rs881646 ZBTB40 Synonymous SNV P1070P 0.381 0.354 0.395 171 447 136 0.438 116 83 20 23 34 5.337 1198 chr10 19676553 19676553 A G rs12773592 MALRD1 Nonsynonymous SNV D1513G 0.111 0.13 0.139 51 130 50 0.131 41 4 2 2 0 24.2 1199 chr10 16919052 16919052 T C rs1801239 CUBN Nonsynonymous SNV I2984V 0.124 0.122 0.102 41 146 47 0.105 30 7 0 0 2 Benign 6.445 1200 chr1 22852880 22852880 G C rs45502998 ZBTB40 Nonsynonymous SNV E1125D 0.05 0.049 0.095 18 59 19 0.046 28 3 1 1 0 18.68 1201 chr10 19676561 19676561 G A rs12771333 MALRD1 Nonsynonymous SNV E1516K 0.109 0.13 0.139 51 128 50 0.131 41 4 2 2 0 19.79 1202 chr10 19678449 19678449 A G rs78832888 MALRD1 Nonsynonymous SNV M1586V 0.079 0.081 0.051 31 93 31 0.079 15 5 0 0 1 0.001 1203 chr1 22915753 22915753 T C rs606002 EPHA8 Nonsynonymous SNV S457P 0.426 0.432 0.405 145 500 166 0.372 119 105 36 24 21 2.654 1204 chr10 134999646 134999646 C T rs34697182 KNDC1 Nonsynonymous SNV T265I 0.015 0.016 0.01 7 18 6 0.018 3 0 0 0 0 4.336 1205 chr10 19678497 19678497 G A rs10763975 MALRD1 Nonsynonymous SNV V1602I 0.873 0.898 0.844 342 1025 345 0.877 248 446 156 105 148 9.905 1206 chr1 22919904 22919904 C T rs209696 EPHA8 Synonymous SNV N467N 0.29 0.289 0.357 117 340 111 0.3 105 52 21 24 15 16.02 1207 chr1 22965438 22965438 A G rs172378 C1QA Synonymous SNV G92G 0.365 0.336 0.435 130 428 129 0.333 128 81 22 27 23 0.297 1208 chr1 19583636 19583636 C T rs1126682 MRTO4 Synonymous SNV H90H 0.195 0.206 0.204 69 229 79 0.177 60 25 9 8 8 10.08 1209 chr10 14941654 14941654 C T rs17353856 SUV39H2 Synonymous SNV Y262Y 0.124 0.081 0.105 45 146 31 0.115 31 9 0 1 1 12.77 1210 chr10 19787418 19787418 T G rs12256835 MALRD1 Nonsynonymous SNV H1721Q 0.227 0.24 0.187 109 267 92 0.279 55 34 8 5 20 5.451 1211 chr10 19884264 19884264 G A rs10827628 MALRD1 Nonsynonymous SNV S1941N 0.52 0.471 0.452 205 610 181 0.526 133 163 45 27 51 4.629 1212 chr1 23219449 23219449 G A rs373865135 EPHB2 Nonsynonymous SNV G501S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 1213 chr1 19638557 19638557 G T rs148182255 AKR7A2 Nonsynonymous SNV P21Q 0.023 0.021 0.014 15 27 8 0.038 4 0 0 0 0 2.123 1214 chr10 19896830 19896830 C A rs7909976 MALRD1 Synonymous SNV S2023S 0.836 0.823 0.844 328 982 316 0.841 248 409 130 106 138 10.9 1215 chr10 17113563 17113563 C T rs1801225 CUBN Synonymous SNV S829S 0.441 0.445 0.449 170 518 171 0.436 132 115 33 31 38 Benign 15.18 1216 chr10 20506418 20506418 G A rs3817405 PLXDC2 Nonsynonymous SNV V347I 0.734 0.76 0.772 289 862 292 0.741 227 319 111 86 109 0.005 1217 chr1 23219493 23219493 T C rs309472 EPHB2 Synonymous SNV G515G 0.996 0.997 0.99 388 1169 383 0.995 291 582 191 144 193 5.758 1218 chr10 17147521 17147521 G T rs1801224 CUBN Nonsynonymous SNV P389T 0.503 0.508 0.52 198 590 195 0.508 153 158 48 42 53 Benign 23.6 1219 chr1 19644218 19644218 G A rs12140547 SLC66A1 Nonsynonymous SNV S16N 0.027 0.026 0.048 18 32 10 0.046 14 0 0 1 0 2.109 1220 chr10 15138615 15138615 C T rs7896053 RPP38-DT 0.149 0.143 0.119 61 175 55 0.156 35 15 3 1 6 0.12 1221 chr1 23280424 23280424 G T rs12048993 LACTBL1 Nonsynonymous SNV N284K 0.313 0.289 0.265 118 368 111 0.303 78 66 17 11 20 14.03 1222 chr10 20534333 20534333 A G rs2778979 PLXDC2 Nonsynonymous SNV I409V 0.925 0.938 0.946 354 1086 360 0.908 278 503 168 131 162 4.915 1223 chr1 23418153 23418153 C T rs10799790 LUZP1 Nonsynonymous SNV D868N 0.796 0.807 0.81 324 935 310 0.831 238 378 124 97 136 10.56 1224 chr1 19652063 19652063 G A rs11558390 SLC66A1 Synonymous SNV T123T 0.264 0.263 0.306 92 310 101 0.236 90 46 14 17 11 9.464 1225 chr10 16979606 16979606 G T rs2356590 CUBN Nonsynonymous SNV P1971T 0.009 0.013 0.017 3 11 5 0.008 5 0 1 0 0 Benign 25 1226 chr10 17702545 17702545 T C rs41289333 STAM Synonymous SNV T41T 0.012 0.005 0.017 7 14 2 0.018 5 0 0 0 0 Benign 14.86 1227 chr10 2055591 2055591 C A rs1414125 LINC00700 0 0 0.381 0 0 0 0 112 0 0 22 0 5.15 1228 chr1 19652872 19652872 G A rs77915465 SLC66A1 Synonymous SNV S172S 0.022 0.016 0.044 17 26 6 0.044 13 0 0 0 0 8.874 1229 chr10 2056409 2056409 C G rs7086568 LINC00700 0 0 0.81 0 0 0 0 238 0 0 95 0 1.238 1230 chr10 21074724 21074724 T C rs2296614 NEBL Synonymous SNV T255T 0.069 0.055 0.054 22 81 21 0.056 16 1 1 0 0 Benign 1.101 1231 chr1 23419261 23419261 G A rs477717 LUZP1 Synonymous SNV S498S 0.794 0.805 0.806 324 932 309 0.831 237 375 124 96 136 6.701 1232 chr1 19653834 19653834 C T rs367964535 SLC66A1 Synonymous SNV S244S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.85 1233 chr10 135015185 135015185 C T rs34683692 KNDC1 Nonsynonymous SNV A1057V 0.018 0.021 0.01 6 21 8 0.015 3 0 0 0 0 8.674 1234 chr10 15145948 15145948 T C rs10242 RPP38 Nonsynonymous SNV I212T 0.054 0.057 0.037 25 63 22 0.064 11 2 0 0 1 0.001 1235 chr10 21827796 21827796 G A rs1802669 MLLT10 Synonymous SNV P65P 0.423 0.393 0.415 174 497 151 0.446 122 101 26 27 40 12.91 1236 chr10 18292035 18292035 G A rs11012030 SLC39A12-AS1 0.048 0.034 0.051 15 56 13 0.038 15 2 0 0 0 2.85 1237 chr1 23419374 23419374 G T rs3765407 LUZP1 Nonsynonymous SNV Q461K 0.794 0.802 0.806 324 932 308 0.831 237 375 123 96 136 11.78 1238 chr10 16982061 16982061 C T rs2271462 CUBN Nonsynonymous SNV G1840S 0.009 0.016 0.017 2 10 6 0.005 5 0 1 0 0 Benign 19.84 1239 chr10 15256304 15256304 C T rs374423460 FAM171A1 Nonsynonymous SNV R428Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.2 1240 chr10 18795447 18795447 G C rs149253719 CACNB2 Nonsynonymous SNV S159T 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 1241 chr10 22498749 22498749 A T rs2478476 EBLN1 Nonsynonymous SNV V55D 0.993 0.99 0.997 387 1166 380 0.992 293 579 188 146 192 0.004 1242 chr10 15256169 15256169 T C rs145662406 FAM171A1 Nonsynonymous SNV E473G 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 6.651 1243 chr10 22649751 22649751 A C rs1170550 SPAG6 Star tloss M1? 0.042 0.031 0.048 11 49 12 0.028 14 1 0 2 0 5.947 1244 chr10 16990552 16990552 G A rs2271468 CUBN Synonymous SNV L1712L 0.009 0.016 0.017 2 11 6 0.005 5 0 1 0 0 Benign 8.4 1245 chr1 23419383 23419383 C T rs477830 LUZP1 Nonsynonymous SNV G458S 0.794 0.802 0.806 324 932 308 0.831 237 375 123 96 136 11.31 1246 chr1 20246876 20246876 C T rs61729970 PLA2G2E Nonsynonymous SNV R118H 0.085 0.102 0.075 36 100 39 0.092 22 1 1 1 4 13.2 1247 chr10 23295903 23295903 T C rs11013233 ARMC3 Nonsynonymous SNV S345P 0.053 0.055 0.058 22 62 21 0.056 17 2 0 1 1 16.66 1248 chr1 23419855 23419855 T C rs1983965 LUZP1 Synonymous SNV T300T 0.797 0.81 0.786 324 936 311 0.831 231 379 125 97 136 0.001 1249 chr10 17636309 17636309 G A rs1053926 HACD1 Nonsynonymous SNV H227Y 0.257 0.242 0.327 105 302 93 0.269 96 43 9 16 19 7.3 1250 chr10 17157572 17157572 G A rs41289313 CUBN Synonymous SNV Y206Y 0.112 0.102 0.095 38 132 39 0.097 28 7 3 2 2 Benign 0.383 1251 chr10 23632970 23632970 T G rs11013408 LOC105376453 0.527 0.477 0.622 218 619 183 0.559 183 222 65 61 71 5.265 1252 chr10 23633566 23633566 C A rs2036917 C10orf67 Synonymous SNV R47R 0.601 0.568 0.633 230 705 218 0.59 186 220 63 59 68 13.78 1253 chr1 23688933 23688933 A G rs2849028 ZNF436 Synonymous SNV N296N 0.711 0.724 0.673 280 835 278 0.718 198 291 102 64 96 0.006 1254 chr1 20645086 20645086 T A rs35480773 VWA5B1 Nonsynonymous SNV V238E 0.083 0.089 0.065 35 97 34 0.09 19 6 1 0 2 31 1255 chr10 17199778 17199778 C A rs11254408 TRDMT1 Synonymous SNV L102L 0.103 0.104 0.065 33 121 40 0.085 19 11 5 1 0 11.81 1256 chr10 24669877 24669877 C G rs17506606 KIAA1217 Nonsynonymous SNV A145G 0.302 0.242 0.245 117 355 93 0.3 72 45 13 10 20 6.583 1257 chr1 23885498 23885498 T C rs11574 ID3 Nonsynonymous SNV T105A 0.872 0.891 0.888 332 1024 342 0.851 261 452 152 116 141 0.001 1258 chr10 19572060 19572060 C T rs72796460 MALRD1 Synonymous SNV I1123I 0.037 0.036 0.048 13 43 14 0.033 14 4 0 0 0 8.739 1259 chr10 24790393 24790393 A G rs1112284 KIAA1217 Synonymous SNV S323S 0.374 0.38 0.425 148 439 146 0.379 125 74 24 26 30 2.545 1260 chr10 17146590 17146590 A G rs12571671 CUBN Synonymous SNV G415G 0.016 0.016 0.014 4 19 6 0.01 4 1 0 0 0 Benign 8.797 1261 chr1 20656824 20656824 A G rs2072752 VWA5B1 Nonsynonymous SNV N469S 0.158 0.177 0.163 56 186 68 0.144 48 16 3 5 6 0.001 1262 chr1 24083494 24083494 C T rs2076345 ELOA Synonymous SNV S738S 0.231 0.247 0.218 88 271 95 0.226 64 29 10 6 9 12.14 1263 chr10 19620407 19620407 A C rs7100382 MALRD1 Nonsynonymous SNV D1266A 0.644 0.667 0.639 243 756 256 0.623 188 253 87 61 72 0.193 1264 chr10 24833137 24833137 C T rs2250411 KIAA1217 Synonymous SNV I1646I 0.404 0.37 0.456 156 474 142 0.4 134 92 28 33 29 7.609 1265 chr1 24134721 24134721 T C rs719400 HMGCL Synonymous SNV L147L 0.907 0.885 0.901 359 1065 340 0.921 265 486 149 119 166 Benign 7.754 1266 chr10 25312689 25312689 A G rs4748997 THNSL1 Synonymous SNV G179G 0.295 0.297 0.276 105 346 114 0.269 81 47 10 13 15 0.731 1267 chr10 17210881 17210881 A G rs7096233 TRDMT1 Synonymous SNV F70F 0.102 0.104 0.099 33 120 40 0.085 29 11 5 1 0 4.134 1268 chr1 20662938 20662938 A G rs10916769 VWA5B1 Nonsynonymous SNV K634R 0.18 0.214 0.18 66 211 82 0.169 53 23 6 7 8 0.089 1269 chr10 16918972 16918972 A G rs1801241 CUBN Synonymous SNV A3010A 0.085 0.089 0.088 25 100 34 0.064 26 4 2 1 2 Benign 0.616 1270 chr10 19620439 19620439 A G rs7100403 MALRD1 Nonsynonymous SNV I1277V 0.606 0.633 0.605 234 712 243 0.6 178 225 80 56 67 16.48 1271 chr10 25312895 25312895 C A rs34929144 THNSL1 Nonsynonymous SNV A248E 0.018 0.034 0.024 10 21 13 0.026 7 1 1 0 0 10.21 1272 chr10 17756596 17756596 T C rs12221 STAM Synonymous SNV Y383Y 0.266 0.268 0.262 90 312 103 0.231 77 47 12 12 13 0.006 1273 chr1 24180962 24180962 T C rs13551 FUCA1 Nonsynonymous SNV Q286R 0.261 0.276 0.248 93 306 106 0.238 73 34 12 7 11 Benign 12.55 1274 chr10 16932490 16932490 G T rs1801238 CUBN Nonsynonymous SNV L2879I 0.038 0.044 0.041 15 45 17 0.038 12 0 0 0 1 Benign 24.1 1275 chr10 19636869 19636869 G T rs1609746 MALRD1 Nonsynonymous SNV K1357N 0.602 0.622 0.599 231 707 239 0.592 176 226 79 55 67 21.4 1276 chr1 20671961 20671961 G A rs11582960 VWA5B1 Nonsynonymous SNV R880H 0.281 0.333 0.306 103 330 128 0.264 90 46 21 15 16 33 1277 chr10 25313818 25313818 C T rs7086282 THNSL1 Synonymous SNV L556L 0.362 0.372 0.34 129 425 143 0.331 100 64 20 18 21 6.47 1278 chr10 17271400 17271400 G C rs3758410 VIM-AS1 0.227 0.227 0.116 105 266 87 0.269 34 27 10 8 10 9.624 1279 chr10 18242311 18242311 A G rs10764176 SLC39A12 Nonsynonymous SNV S36G 0.307 0.284 0.32 115 360 109 0.295 94 55 16 23 11 0.002 1280 chr1 24194748 24194748 G C rs2070956 FUCA1 Nonsynonymous SNV P10R 0.089 0.122 0.099 33 105 47 0.085 29 6 1 1 1 Benign 14.62 1281 chr10 25701341 25701341 C G rs2480345 GPR158 Nonsynonymous SNV A425G 0.729 0.688 0.69 269 856 264 0.69 203 306 90 73 91 19.22 1282 chr10 19641035 19641035 T C rs10827306 MALRD1 Nonsynonymous SNV V1417A 0.612 0.633 0.609 235 718 243 0.603 179 229 80 57 67 0.046 1283 chr1 20680718 20680718 G A rs2072751 VWA5B1 Nonsynonymous SNV E1204K 0.239 0.279 0.252 92 280 107 0.236 74 36 13 11 8 11.55 1284 chr10 26355906 26355906 G A rs3824700 MYO3A Nonsynonymous SNV R319H 0.523 0.529 0.537 224 614 203 0.574 158 158 52 43 61 Benign 16.29 1285 chr10 18254595 18254595 C T rs62619938 SLC39A12 Nonsynonymous SNV R109C 0.099 0.091 0.078 37 116 35 0.095 23 7 1 0 1 17.06 1286 chr1 24194773 24194773 G A rs2070955 FUCA1 Nonsynonymous SNV R2W 0.089 0.122 0.095 33 105 47 0.085 28 6 1 1 1 Benign 25.7 1287 chr1 20827216 20827216 C T rs595980 MUL1 Synonymous SNV A342A 0.25 0.268 0.194 89 293 103 0.228 57 40 11 5 9 14.08 1288 chr10 26355992 26355992 A G rs3824699 MYO3A Nonsynonymous SNV I348V 0.641 0.635 0.656 266 752 244 0.682 193 240 75 62 88 Benign 0.155 1289 chr10 18266989 18266989 G A rs2478568 SLC39A12 Nonsynonymous SNV V170I 0.679 0.664 0.711 270 797 255 0.692 209 272 89 78 89 0.001 1290 chr1 24201162 24201162 G A rs2229579 CNR2 Nonsynonymous SNV H316Y 0.089 0.12 0.092 33 105 46 0.085 27 6 1 1 1 0.001 1291 chr10 19780543 19780543 C T rs10827499 MALRD1 Synonymous SNV D1709D 0.237 0.26 0.286 94 278 100 0.241 84 28 15 15 12 6.1 1292 chr10 26357747 26357747 C T rs35379457 MYO3A Synonymous SNV Y368Y 0.522 0.529 0.544 224 613 203 0.574 160 158 52 44 61 Benign 12.52 1293 chr10 16989272 16989272 G A rs61841454 CUBN Synonymous SNV I1768I 0.056 0.055 0.054 16 66 21 0.041 16 3 0 0 2 Benign 10.8 1294 chr1 24406647 24406647 G A rs4649175 MYOM3 Synonymous SNV A815A 0.371 0.378 0.333 123 436 145 0.315 98 76 23 14 24 6.135 1295 chr10 18828371 18828371 C T rs2228645 CACNB2 Synonymous SNV Y512Y 0.141 0.128 0.15 70 165 49 0.179 44 14 2 5 5 Benign 0.991 1296 chr10 26357748 26357748 G A rs3817420 MYO3A Nonsynonymous SNV V369I 0.641 0.635 0.67 265 753 244 0.679 197 241 75 64 87 Benign 18.17 1297 chr1 24409191 24409191 C T rs4320729 MYOM3 Nonsynonymous SNV G662R 0.365 0.367 0.32 122 428 141 0.313 94 72 23 14 24 32 1298 chr10 135204926 135204926 C G rs778390983 PAOX Nonsynonymous SNV P449A 0 0.005 0 0 0 2 0 0 0 0 0 0 7.01 1299 chr10 19492702 19492702 C T rs16918344 MALRD1 Nonsynonymous SNV A666V 0.191 0.188 0.184 65 224 72 0.167 54 20 9 4 7 Benign 13.01 1300 chr10 19493309 19493309 G A rs10508578 MALRD1 Nonsynonymous SNV S726N 0.104 0.099 0.122 39 122 38 0.1 36 11 3 2 2 16.09 1301 chr10 26446312 26446312 G A rs3758449 MYO3A Nonsynonymous SNV S956N 0.526 0.531 0.537 224 618 204 0.574 158 159 53 45 61 Benign 11.23 1302 chr1 24413159 24413159 T C rs6424152 MYOM3 Synonymous SNV E591E 0.376 0.385 0.337 127 441 148 0.326 99 76 25 14 24 0.038 1303 chr10 15649698 15649698 T G rs9333269 ITGA8 Nonsynonymous SNV Q566P 0.131 0.146 0.099 66 154 56 0.169 29 7 3 2 7 1.128 1304 chr10 19493993 19493993 G C rs4601653 MALRD1 Nonsynonymous SNV D793H 0.192 0.188 0.187 66 225 72 0.169 55 21 9 4 7 10.46 1305 chr10 26462790 26462790 G A rs3740232 MYO3A Synonymous SNV E1199E 0.383 0.391 0.344 158 450 150 0.405 101 90 27 15 26 Benign 2.38 1306 chr1 24416059 24416059 T C rs4393101 MYOM3 Nonsynonymous SNV D528G 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 9.17 1307 chr10 19425704 19425704 A G rs10826986 MALRD1 Nonsynonymous SNV T469A 0.124 0.12 0.126 61 145 46 0.156 37 11 2 2 4 Benign 5.526 1308 chr10 26463043 26463043 A T rs3740231 MYO3A Nonsynonymous SNV T1284S 0.448 0.466 0.449 193 526 179 0.495 132 115 40 32 41 Benign 0.003 1309 chr10 18254606 18254606 C A rs691513 SLC39A12 Synonymous SNV T112T 0.337 0.362 0.391 149 396 139 0.382 115 83 32 26 25 17.94 1310 chr1 24416070 24416070 G C rs7533060 MYOM3 Synonymous SNV P524P 0.422 0.443 0.388 150 495 170 0.385 114 101 34 18 31 2.464 1311 chr10 21134282 21134282 C G rs41277370 NEBL Nonsynonymous SNV D378H 0.152 0.128 0.18 56 178 49 0.144 53 9 2 7 4 Benign 26 1312 chr10 26463130 26463130 C A rs1999240 MYO3A Nonsynonymous SNV R1313S 0.567 0.576 0.578 234 666 221 0.6 170 188 61 51 65 Benign 12.59 1313 chr1 24418768 24418768 T C rs7556176 MYOM3 Synonymous SNV P376P 0.394 0.443 0.391 152 462 170 0.39 115 100 46 24 28 0.01 1314 chr10 21139389 21139389 T C rs4025981 NEBL Nonsynonymous SNV M351V 0.152 0.135 0.167 57 179 52 0.146 49 8 2 7 4 Benign 10.84 1315 chr1 24419496 24419496 A G rs4233050 MYOM3 Nonsynonymous SNV M344T 0.431 0.469 0.435 163 506 180 0.418 128 109 46 25 32 0.001 1316 chr10 27389197 27389197 T C rs7897309 ANKRD26 Nonsynonymous SNV Q20R 0.879 0.865 0.854 342 1032 332 0.877 251 454 143 105 151 Benign 0.002 1317 chr10 27434483 27434483 G A rs2274634 YME1L1 Synonymous SNV L69L 0.179 0.201 0.214 62 210 77 0.159 63 19 4 9 7 9.483 1318 chr1 24421474 24421474 G A rs6678540 MYOM3 Nonsynonymous SNV T266M 0.402 0.445 0.405 150 472 171 0.385 119 96 45 23 30 16.05 1319 chr10 21178875 21178875 G A rs759216770 NEBL Nonsynonymous SNV R53C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.6 1320 chr10 27437964 27437964 T C rs11538750 YME1L1 Synonymous SNV T13T 0.085 0.099 0.15 20 100 38 0.051 44 6 4 3 0 8.411 1321 chr10 21805466 21805466 - CCTCCT rs112207161 SKIDA1 E428_G429insEE 0.638 0.641 0.415 265 749 246 0.679 122 231 74 48 90 1322 chr10 27459670 27459670 C T rs1981296 MASTL Synonymous SNV I594I 0.64 0.599 0.605 252 751 230 0.646 178 234 65 55 83 Benign 8.323 1323 chr1 24421950 24421950 C G rs4319261 MYOM3 Nonsynonymous SNV D258H 0.433 0.474 0.425 165 508 182 0.423 125 112 49 27 37 21 1324 chr10 27475444 27475444 T C rs10741130 MASTL Synonymous SNV T834T 0.64 0.602 0.609 252 751 231 0.646 179 234 66 55 83 Benign 3.507 1325 chr10 15256440 15256440 C T rs150647132 FAM171A1 Nonsynonymous SNV G383S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 2.804 1326 chr10 27508758 27508758 T C rs10764690 ACBD5 Synonymous SNV P64P 0.491 0.466 0.456 198 576 179 0.508 134 136 40 31 53 6.415 1327 chr1 24447468 24447468 G C rs3795299 IL22RA1 Nonsynonymous SNV R518G 0.382 0.375 0.34 138 449 144 0.354 100 87 30 13 22 22 1328 chr10 27535017 27535017 T C rs1144510 LRRC37A6P 0 0 0.306 0 0 0 0 90 0 0 37 0 7.149 1329 chr10 22605398 22605398 C G rs11552445 COMMD3, COMMD3-BMI1 Nonsynonymous SNV R18G 0.044 0.042 0.044 19 52 16 0.049 13 0 1 0 0 13.61 1330 chr10 27535056 27535056 G C rs3118890 LRRC37A6P 0 0 0.684 0 0 0 0 201 0 0 100 0 0.627 1331 chr10 17088006 17088006 T C rs1801228 CUBN Synonymous SNV L1139L 0.052 0.057 0.048 17 61 22 0.044 14 3 0 0 1 Benign 8.729 1332 chr1 21932625 21932625 G A rs2275365 RAP1GAP Synonymous SNV T518T 0.101 0.104 0.065 34 118 40 0.087 19 5 1 0 2 11.09 1333 chr10 15317939 15317939 G C rs45568234 FAM171A1 Synonymous SNV S111S 0.004 0.016 0.007 4 5 6 0.01 2 0 0 0 0 8.698 1334 chr10 27687225 27687225 A G rs2505323 PTCHD3 X768Q 0.723 0.693 0.677 259 849 266 0.664 199 308 92 72 87 5.818 1335 chr1 24448084 24448084 G A rs17852648 IL22RA1 Synonymous SNV P312P 0.319 0.292 0.333 122 374 112 0.313 98 61 18 17 14 7.417 1336 chr10 27687760 27687760 T - rs200872708 PTCHD3 D590Tfs*16 0.027 0.029 0.034 11 32 11 0.028 10 2 0 0 0 1337 chr10 22675857 22675857 A G rs7074847 SPAG6 Nonsynonymous SNV Q194R 0.044 0.044 0.044 19 52 17 0.049 13 0 1 0 0 1.104 1338 chr1 24460797 24460797 T G rs17852649 IL22RA1 Synonymous SNV P145P 0.652 0.656 0.684 255 765 252 0.654 201 245 87 63 79 0.163 1339 chr10 17130199 17130199 G A rs41289311 CUBN Synonymous SNV L637L 0.06 0.057 0.054 21 70 22 0.054 16 3 0 0 1 Benign 6.385 1340 chr10 27687775 27687775 T C rs1638630 PTCHD3 Nonsynonymous SNV I584M 0.989 0.982 0.98 384 1161 377 0.985 288 574 185 141 189 0.001 1341 chr10 15883585 15883585 C T rs150636122 MINDY3 Synonymous SNV K83K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.81 1342 chr1 24465113 24465113 C T rs10903022 IL22RA1 Synonymous SNV P45P 0.304 0.32 0.286 122 357 123 0.313 84 54 22 5 16 13.76 1343 chr1 21944439 21944439 C T rs140945894 RAP1GAP Synonymous SNV P95P 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 15.41 1344 chr10 22830842 22830842 C T rs61731109 PIP4K2A Synonymous SNV P250P 0.036 0.026 0.037 25 42 10 0.064 11 0 0 0 0 15.84 1345 chr10 27687965 27687965 A G rs2505327 PTCHD3 Nonsynonymous SNV M521T 0.723 0.693 0.718 259 849 266 0.664 211 308 92 74 87 0.083 1346 chr1 24496085 24496085 G A rs34654982 IFNLR1 Synonymous SNV P63P 0.078 0.06 0.044 14 91 23 0.036 13 6 0 0 0 6.237 1347 chr1 22141030 22141030 C T rs75506362 LDLRAD2 Synonymous SNV D75D 0.095 0.094 0.085 45 111 36 0.115 25 6 2 1 3 12.46 1348 chr10 17659149 17659149 C G rs7895850 HACD1 Nonsynonymous SNV E64Q 0.072 0.104 0.007 33 84 40 0.085 2 3 6 1 0 11.94 1349 chr10 23290952 23290952 C T rs12259839 ARMC3 Synonymous SNV D247D 0.072 0.057 0.061 36 85 22 0.092 18 4 1 1 0 12.11 1350 chr1 24668667 24668667 C G rs11576645 GRHL3 Synonymous SNV V324V 0.144 0.167 0.15 52 169 64 0.133 44 15 5 4 4 14.02 1351 chr10 27687994 27687994 A G rs2484173 PTCHD3 Synonymous SNV S511S 0.723 0.693 0.718 259 849 266 0.664 211 308 92 74 87 0.002 1352 chr10 27688109 27688109 T C rs2429485 PTCHD3 Nonsynonymous SNV D473G 0.721 0.693 0.718 259 847 266 0.664 211 307 92 74 87 0.006 1353 chr1 24690764 24690764 T A rs545809 GRHL3 Nonsynonymous SNV M595K 0.307 0.326 0.286 105 360 125 0.269 84 56 20 13 15 9.013 1354 chr1 22150120 22150120 C T rs3736360 HSPG2 Nonsynonymous SNV S4332N 0.135 0.146 0.143 48 158 56 0.123 42 6 6 1 2 Benign 13.76 1355 chr10 23297252 23297252 G A rs10828395 ARMC3 Nonsynonymous SNV R363Q 0.096 0.091 0.19 27 113 35 0.069 56 17 4 5 3 22.8 1356 chr10 27692279 27692279 A C rs2484180 PTCHD3 Nonsynonymous SNV C407G 0.402 0.378 0.391 146 472 145 0.374 115 101 25 21 30 11.83 1357 chr1 24718079 24718079 C A rs560219 STPG1 Nonsynonymous SNV S54I 0.215 0.227 0.221 83 252 87 0.213 65 28 8 5 7 24.3 1358 chr1 22150160 22150160 G T rs3736358 HSPG2 Synonymous SNV R4319R 0.135 0.146 0.143 48 158 56 0.123 42 6 6 1 2 Benign 16.52 1359 chr10 19780463 19780463 C A rs16918863 MALRD1 Nonsynonymous SNV L1683I 0.083 0.068 0.054 32 98 26 0.082 16 4 1 1 3 5.825 1360 chr10 23482635 23482635 T C rs7918487 PTF1A Nonsynonymous SNV S263P 0.516 0.497 0.493 200 606 191 0.513 145 207 60 52 59 Benign 22.9 1361 chr10 22048330 22048330 C T rs9045 DNAJC1 Synonymous SNV A455A 0.121 0.148 0.136 43 142 57 0.11 40 6 7 4 2 10.41 1362 chr1 22154845 22154845 A G rs2228347 HSPG2 Synonymous SNV D4105D 0.24 0.258 0.245 97 282 99 0.249 72 31 13 10 12 Benign 8.349 1363 chr10 27702688 27702688 C T rs7087552 PTCHD3 Synonymous SNV E164E 0.207 0.229 0.197 101 243 88 0.259 58 29 7 8 13 7.691 1364 chr1 24859617 24859617 G A rs196429 RCAN3 Synonymous SNV P128P 0.275 0.279 0.306 122 323 107 0.313 90 41 11 16 19 10.41 1365 chr10 27702725 27702725 A G rs6482626 PTCHD3 Nonsynonymous SNV L152P 0.206 0.229 0.197 101 242 88 0.259 58 29 7 8 13 23.9 1366 chr1 22159008 22159008 C A rs2229487 HSPG2 Synonymous SNV V3730V 0.121 0.13 0.133 44 142 50 0.113 39 4 6 1 2 Benign 15.79 1367 chr1 24859665 24859665 G A rs196430 RCAN3 Synonymous SNV P144P 0.271 0.279 0.316 121 318 107 0.31 93 41 11 16 19 9.763 1368 chr10 23003226 23003226 A G rs1132816 PIP4K2A Synonymous SNV S10S 0.244 0.237 0.265 84 286 91 0.215 78 39 11 7 6 0.102 1369 chr10 23611399 23611399 C T rs370095073 C10orf67 Nonsynonymous SNV R133Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.7 1370 chr1 22161275 22161275 G A rs2229492 HSPG2 Synonymous SNV V3540V 0.122 0.133 0.136 44 143 51 0.113 40 4 6 1 2 Benign 9.038 1371 chr10 28224075 28224075 G A rs35242712 ARMC4 Nonsynonymous SNV R312C 0.037 0.039 0.037 18 43 15 0.046 11 0 0 0 1 14.28 1372 chr10 22498209 22498209 A G rs2243897 EBLN1 Nonsynonymous SNV M235T 0.266 0.237 0.248 102 312 91 0.262 73 43 8 10 7 0.002 1373 chr1 24861704 24861704 G A rs196432 RCAN3 Nonsynonymous SNV R106Q 0.405 0.37 0.401 161 475 142 0.413 118 102 21 21 32 6.307 1374 chr1 22165901 22165901 A G rs2291826 HSPG2 Synonymous SNV A3285A 0.206 0.221 0.211 84 242 85 0.215 62 19 9 8 10 Benign 1.306 1375 chr10 17495619 17495619 T A rs45462798 ST8SIA6 Nonsynonymous SNV T47S 0.032 0.034 0.027 13 37 13 0.033 8 2 0 0 0 9.064 1376 chr10 22498468 22498468 C T rs838759 EBLN1 Nonsynonymous SNV G149R 0.211 0.18 0.201 77 248 69 0.197 59 24 4 6 5 10.19 1377 chr10 28228865 28228865 A G rs7893462 ARMC4 Synonymous SNV N211N 0.641 0.648 0.616 253 753 249 0.649 181 234 80 53 74 Benign 0.411 1378 chr10 23633368 23633368 T G rs11013409 LOC105376453 0.552 0.51 0.044 221 648 196 0.567 13 219 63 6 68 3.921 1379 chr1 22165987 22165987 G A rs2291827 HSPG2 Nonsynonymous SNV H3257Y 0.121 0.133 0.136 44 142 51 0.113 40 4 6 1 2 Benign 23.8 1380 chr1 25291010 25291010 A T rs6672420 RUNX3 Nonsynonymous SNV I18N 0.535 0.549 0.531 205 628 211 0.526 156 169 57 44 56 22.5 1381 chr10 22498484 22498484 - AGA rs3059425 EBLN1 L143_I144insL 0.267 0.237 0.248 102 313 91 0.262 73 43 8 10 7 1382 chr10 28228926 28228926 C T rs35472668 ARMC4 Nonsynonymous SNV R191Q 0.037 0.039 0.037 18 43 15 0.046 11 0 0 0 1 32 1383 chr10 23408278 23408278 C T rs7427 MSRB2 Synonymous SNV S114S 0.302 0.32 0.289 104 355 123 0.267 85 56 20 16 11 19.69 1384 chr1 22181360 22181360 G C rs116788687 HSPG2 Nonsynonymous SNV I2039M 0.005 0.021 0.024 3 6 8 0.008 7 0 1 0 0 Benign/Likely benign 22.8 1385 chr1 25889632 25889632 T C rs6687605 LDLRAP1 Nonsynonymous SNV S202P 0.57 0.578 0.585 208 669 222 0.533 172 197 66 52 52 Benign 0.013 1386 chr10 28378758 28378758 T C rs2997211 MPP7 Nonsynonymous SNV K322R 0.884 0.826 0.874 359 1038 317 0.921 257 489 142 114 168 14.52 1387 chr10 17126383 17126383 G A rs7905349 CUBN Nonsynonymous SNV H730Y 0.016 0.008 0.01 7 19 3 0.018 3 0 0 0 0 Benign 0.001 1388 chr1 25890189 25890189 A G rs28969504 LDLRAP1 Synonymous SNV T218T 0.59 0.607 0.616 214 693 233 0.549 181 211 72 57 54 Benign 0.123 1389 chr10 294953 294953 A G rs1017361 ZMYND11 Synonymous SNV E435E 0.978 0.982 0.956 379 1148 377 0.972 281 561 185 136 184 1.387 1390 chr10 21112137 21112137 A T rs4748728 NEBL Nonsynonymous SNV N654K 0.042 0.029 0.02 13 49 11 0.033 6 1 1 0 1 Benign 21.9 1391 chr10 29747417 29747417 C T rs1887465 SVIL Synonymous SNV P1742P 0.233 0.227 0.241 84 274 87 0.215 71 23 11 11 9 13.79 1392 chr10 24813454 24813454 G A rs10828663 KIAA1217 Nonsynonymous SNV A570T 0.323 0.336 0.367 140 379 129 0.359 108 59 18 18 25 14.02 1393 chr1 26150023 26150023 C T rs11247758 LOC646471 0.812 0.807 0.81 326 953 310 0.836 238 388 121 97 137 4.31 1394 chr10 22497839 22497839 G A rs57562594 EBLN1 Synonymous SNV R358R 0.054 0.055 0.048 25 63 21 0.064 14 3 1 0 0 6.216 1395 chr1 26357656 26357656 C A rs2736831 EXTL1 Nonsynonymous SNV H379N 0.613 0.641 0.643 239 720 246 0.613 189 216 75 60 72 23.5 1396 chr10 29754609 29754609 T C rs1057952 SVIL Synonymous SNV T1590T 0.317 0.294 0.303 109 372 113 0.279 89 52 16 14 16 0.02 1397 chr10 29759225 29759225 A G rs11007607 SVIL Synonymous SNV A1515A 0.203 0.174 0.184 54 238 67 0.138 54 23 6 4 2 1.728 1398 chr10 24832885 24832885 C T rs3748218 KIAA1217 Synonymous SNV T1562T 0.123 0.135 0.119 58 144 52 0.149 35 10 1 3 3 11.71 1399 chr10 29812422 29812422 C A rs7070135 SVIL Nonsynonymous SNV V615L 0.122 0.102 0.112 28 143 39 0.072 33 6 2 3 0 12.71 1400 chr1 26357667 26357667 G A rs11247848 EXTL1 Synonymous SNV L382L 0.226 0.216 0.194 96 265 83 0.246 57 26 8 3 10 8.459 1401 chr10 22498443 22498443 T C rs758244103 EBLN1 Nonsynonymous SNV N157S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 1402 chr1 26385003 26385003 T C rs2275950 TRIM63 Nonsynonymous SNV K237E 0.23 0.219 0.211 103 270 84 0.264 62 28 9 4 13 11.8 1403 chr10 22498450 22498450 A C rs10466081 EBLN1 Nonsynonymous SNV C155G 0.055 0.055 0.051 25 64 21 0.064 15 3 1 0 0 0.001 1404 chr10 29812602 29812602 G T rs7070678 SVIL Synonymous SNV R555R 0.411 0.396 0.374 144 483 152 0.369 110 94 27 22 25 7.12 1405 chr10 22024152 22024152 A G rs142539244 MLLT10 Synonymous SNV Q981Q 0.015 0.008 0.003 4 18 3 0.01 1 0 0 0 0 6.836 1406 chr10 29821089 29821089 C T rs17756919 SVIL Synonymous SNV V617V 0.339 0.352 0.306 132 398 135 0.338 90 62 23 16 21 8.081 1407 chr10 29821475 29821475 G A rs41284748 SVIL Synonymous SNV A607A 0.104 0.133 0.095 41 122 51 0.105 28 6 5 2 2 3.382 1408 chr1 26487913 26487913 G A rs758223492 FAM110D Nonsynonymous SNV R44H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 1409 chr10 29821523 29821523 T C rs1328323 SVIL Synonymous SNV K591K 0.362 0.375 0.327 144 425 144 0.369 96 67 26 18 23 7.941 1410 chr1 26487940 26487940 A G rs3748856 FAM110D Nonsynonymous SNV H53R 0.223 0.245 0.286 84 262 94 0.215 84 28 10 13 8 11.47 1411 chr10 29822032 29822032 C T rs1247696 SVIL Nonsynonymous SNV V422I 0.979 0.971 0.973 381 1149 373 0.977 286 562 181 139 186 0.002 1412 chr10 27303605 27303605 A T rs2274741 ANKRD26 Nonsynonymous SNV F1513L 0.131 0.148 0.133 39 154 57 0.1 39 20 5 6 1 Benign 6.303 1413 chr1 26496651 26496651 T C rs7087 ZNF593 Synonymous SNV G59G 0.35 0.344 0.282 150 411 132 0.385 83 67 22 14 29 5.952 1414 chr10 18828447 18828447 G A rs903062527 CACNB2 Nonsynonymous SNV E538K 0.004 0 0 0 5 0 0 0 0 0 0 0 18.55 1415 chr10 22839628 22839628 T C rs2230469 PIP4K2A Nonsynonymous SNV N192S 0.172 0.167 0.204 59 202 64 0.151 60 17 7 9 5 11.25 1416 chr10 29822159 29822159 T C rs7076239 SVIL Synonymous SNV L379L 0.366 0.378 0.333 145 430 145 0.372 98 69 26 19 24 1.336 1417 chr10 17275861 17275861 C T rs4903 VIM Synonymous SNV D271D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 12.84 1418 chr10 29839798 29839798 A G rs17834991 SVIL Synonymous SNV Y185Y 0.187 0.19 0.194 75 220 73 0.192 57 29 6 6 9 1.154 1419 chr10 27317840 27317840 C T rs10829163 ANKRD26 Nonsynonymous SNV V1304I 0.17 0.169 0.173 43 200 65 0.11 51 19 4 6 1 Benign 0.033 1420 chr1 26515956 26515956 C A rs1045105 CNKSR1 Nonsynonymous SNV H694N 0.159 0.135 0.173 61 187 52 0.156 51 14 6 2 2 0.515 1421 chr10 25888180 25888180 A G rs10828833 GPR158 Nonsynonymous SNV I1209V 0.315 0.323 0.337 127 370 124 0.326 99 66 23 21 28 0.002 1422 chr10 29839864 29839864 A C rs1270874 SVIL Synonymous SNV A163A 0.715 0.682 0.663 271 839 262 0.695 195 306 82 66 95 0.032 1423 chr10 29891260 29891260 C T rs12416605 MIR938 0 0 0.204 0 0 0 0 60 0 0 8 0 7.11 1424 chr1 26517267 26517267 A G rs41284333 CATSPER4 Nonsynonymous SNV H50R 0.22 0.221 0.177 96 258 85 0.246 52 19 11 4 11 0.002 1425 chr10 27389163 27389163 C T rs746535031 ANKRD26 Synonymous SNV G31G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 12.78 1426 chr10 23297301 23297301 C T rs11817610 ARMC3 Synonymous SNV N379N 0.42 0.469 0.537 180 493 180 0.462 158 188 67 49 69 3.284 1427 chr10 30316208 30316208 T C rs2185724 JCAD Nonsynonymous SNV R957G 0.392 0.398 0.371 163 460 153 0.418 109 88 31 25 37 0.024 1428 chr1 22446768 22446768 G A rs34228276 WNT4 Synonymous SNV P277P 0.029 0.029 0.031 11 34 11 0.028 9 1 0 0 0 12.1 1429 chr10 30316872 30316872 T C rs3739996 JCAD Synonymous SNV A735A 0.343 0.349 0.333 137 403 134 0.351 98 64 25 18 28 3.032 1430 chr1 26517794 26517794 A G rs11247866 CATSPER4 Nonsynonymous SNV Q77R 0.22 0.221 0.177 96 258 85 0.246 52 19 11 4 11 23.5 1431 chr10 19820255 19820255 A T rs41276112 MALRD1 Nonsynonymous SNV D1818V 0.05 0.076 0.048 24 59 29 0.062 14 0 1 0 0 23.7 1432 chr10 23393172 23393172 C T rs187064900 MSRB2 Nonsynonymous SNV P73L 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 21.9 1433 chr10 30317826 30317826 A G rs7920682 JCAD Synonymous SNV Y417Y 0.428 0.438 0.405 176 502 168 0.451 119 103 40 28 45 0.05 1434 chr10 30317838 30317838 A G rs7920686 JCAD Synonymous SNV P413P 0.427 0.438 0.405 176 501 168 0.451 119 103 40 28 45 0.057 1435 chr1 26517891 26517891 C T rs11247867 CATSPER4 Synonymous SNV I109I 0.216 0.214 0.173 95 254 82 0.244 51 18 10 4 10 17.71 1436 chr10 30653402 30653402 A G rs7094026 GOLGA2P6 0 0 0.432 0 0 0 0 127 0 0 53 0 2.652 1437 chr1 26526439 26526439 A G rs17257155 CATSPER4 Nonsynonymous SNV I293V 0.214 0.206 0.17 92 251 79 0.236 50 19 9 4 9 3.473 1438 chr10 30658517 30658517 C T rs10826793 GOLGA2P6 0 0 0.259 0 0 0 0 76 0 0 20 0 1.896 1439 chr10 24721946 24721946 A C rs2274831 KIAA1217 Synonymous SNV G192G 0.14 0.112 0.15 47 164 43 0.121 44 9 1 4 2 5.226 1440 chr10 30728101 30728101 T C rs1042058 MAP3K8 Synonymous SNV Y78Y 0.549 0.596 0.554 221 645 229 0.567 163 168 63 44 65 0.211 1441 chr10 31001494 31001494 A C rs1826619 SVIL2P 0 0 0.878 0 0 0 0 258 0 0 112 0 0.262 1442 chr10 24813282 24813282 G C rs2297329 KIAA1217 Synonymous SNV T512T 0.033 0.047 0.017 12 39 18 0.031 5 0 2 0 0 1.758 1443 chr1 26527863 26527863 C T rs17163674 CATSPER4 Synonymous SNV R406R 0.157 0.128 0.177 54 184 49 0.138 52 15 5 2 1 19.78 1444 chr10 31134214 31134214 A G rs3740236 ZNF438 Synonymous SNV H721H 0.132 0.148 0.133 54 155 57 0.138 39 13 4 2 5 0.138 1445 chr1 26608814 26608814 A G rs6672357 UBXN11 Synonymous SNV P393P 0.618 0.669 0.616 265 726 257 0.679 181 326 115 50 111 0.644 1446 chr10 31146615 31146615 T C rs16932010 ZNF438 Star tloss M1? 0.2 0.214 0.252 74 235 82 0.19 74 19 7 8 9 13.58 1447 chr10 24813327 24813327 A G rs2297328 KIAA1217 Synonymous SNV T527T 0.036 0.049 0.017 13 42 19 0.033 5 0 2 0 0 0.025 1448 chr1 26608866 26608867 CC - rs764852231 UBXN11 G376Sfs*31 0.105 0.091 0.163 38 123 35 0.097 48 11 5 4 4 1449 chr1 23208925 23208925 G A rs2229872 EPHB2 Synonymous SNV P459P 0.146 0.156 0.105 58 171 60 0.149 31 14 3 2 4 14.97 1450 chr1 26608869 26608896 GGACTGGGGCCGGGACCGGGACCGGGAC - rs757886085 UBXN11 C366Sfs*32 0.103 0.091 0.16 38 121 35 0.097 47 10 5 3 4 1451 chr10 18840768 18840768 C T rs200356504 NSUN6 Nonsynonymous SNV R211Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 1452 chr10 3150973 3150973 C T rs1132173 PFKP Synonymous SNV F101F 0.327 0.331 0.327 121 384 127 0.31 96 61 24 17 20 12.18 1453 chr1 26609259 26609259 C T rs7522905 UBXN11 Synonymous SNV T271T 0.604 0.625 0.599 256 709 240 0.656 176 211 72 55 82 13.03 1454 chr10 3155620 3155620 A G rs1052309 PFKP Synonymous SNV A211A 0.616 0.628 0.554 229 723 241 0.587 163 222 75 43 64 0.927 1455 chr1 26610891 26610891 A C rs4332350 UBXN11 Nonsynonymous SNV L192R 0.938 0.935 0.935 362 1101 359 0.928 275 514 169 130 167 0.019 1456 chr10 27687437 27687437 C A rs139600575 PTCHD3 Nonsynonymous SNV W697L 0.01 0.01 0.003 3 12 4 0.008 1 0 0 0 0 28.7 1457 chr10 3172121 3172121 C T rs1052333 PFKP Synonymous SNV A331A 0.336 0.331 0.33 137 394 127 0.351 97 69 16 19 17 12.43 1458 chr10 3180227 3180227 T C rs6901 PITRM1 Nonsynonymous SNV Q939R 0.668 0.617 0.643 276 784 237 0.708 189 262 70 64 99 0.002 1459 chr1 26627478 26627478 T C rs2276712 UBXN11 Synonymous SNV S46S 0.744 0.742 0.762 305 874 285 0.782 224 329 105 83 120 0.747 1460 chr10 21805819 21805819 T C rs184454408 SKIDA1 Synonymous SNV A311A 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 0.165 1461 chr1 26646726 26646726 A G rs1071849 CD52 Nonsynonymous SNV N40S 0.744 0.745 0.762 306 874 286 0.785 224 328 106 83 121 6.804 1462 chr10 3180298 3180298 C T rs10175 PITRM1 Synonymous SNV K915K 0.336 0.346 0.371 138 394 133 0.354 109 65 19 19 24 10.69 1463 chr10 3180316 3180316 T C rs11414 PITRM1 Synonymous SNV R909R 0.579 0.604 0.599 238 680 232 0.61 176 198 64 52 71 5.124 1464 chr1 26646730 26646730 A G rs17645 CD52 Nonsynonymous SNV I41M 0.744 0.745 0.762 306 874 286 0.785 224 328 106 83 121 0.122 1465 chr10 25887864 25887864 C T rs149155339 GPR158 Synonymous SNV N1103N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 1466 chr10 31810782 31810782 A C rs118020901 ZEB1 Nonsynonymous SNV Q766P 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Uncertain significance 24.3 1467 chr1 26663362 26663362 C T rs10751735 CRYBG2 Nonsynonymous SNV S1294N 0.594 0.568 0.548 214 697 218 0.549 161 209 64 49 55 10.09 1468 chr10 19636779 19636779 C T rs76551926 MALRD1 Synonymous SNV N1327N 0.067 0.047 0.071 24 79 18 0.062 21 4 1 1 0 11.5 1469 chr10 3181126 3181126 C T rs17849904 PITRM1 Nonsynonymous SNV V865I 0.072 0.083 0.088 20 84 32 0.051 26 2 2 4 0 18.6 1470 chr10 26310470 26310470 C T rs35010955 MYO3A Synonymous SNV D208D 0.068 0.078 0.099 32 80 30 0.082 29 3 1 4 1 Benign/Likely benign 16.78 1471 chr10 3189380 3189380 C T rs3740607 PITRM1 Synonymous SNV P668P 0.514 0.471 0.5 208 604 181 0.533 147 153 47 36 59 11.12 1472 chr1 26664968 26664968 C T rs11247919 CRYBG2 Synonymous SNV L1115L 0.454 0.451 0.391 165 533 173 0.423 115 115 37 23 35 17.52 1473 chr10 26310506 26310506 C T rs34067308 MYO3A Synonymous SNV A220A 0.063 0.076 0.099 32 74 29 0.082 29 3 1 4 1 Benign/Likely benign 13.29 1474 chr10 3190265 3190265 A G rs4881111 PITRM1-AS1 0.532 0.466 0.51 210 624 179 0.538 150 169 46 39 61 4.664 1475 chr1 26670752 26670752 C T rs11247923 CRYBG2 Synonymous SNV T799T 0.189 0.164 0.197 71 222 63 0.182 58 18 5 5 9 14.79 1476 chr10 3190298 3190298 C T rs4881112 PITRM1-AS1 0.52 0.458 0.5 207 611 176 0.531 147 162 45 37 61 6.868 1477 chr10 27459716 27459716 G A rs35571315 MASTL Nonsynonymous SNV V610I 0.015 0.01 0.01 6 18 4 0.015 3 0 0 0 0 Benign 0.106 1478 chr10 24498169 24498169 C T rs144874255 KIAA1217 Nonsynonymous SNV S16L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 23.3 1479 chr10 3200292 3200292 G A rs3182535 PITRM1 Nonsynonymous SNV A365V 0.659 0.604 0.619 274 774 232 0.703 182 254 67 60 99 14.33 1480 chr10 27964470 27964470 G A rs2253230 MKX Synonymous SNV N284N 0.338 0.326 0.367 139 397 125 0.356 108 66 18 20 26 4.379 1481 chr1 26671084 26671084 G T rs12562454 CRYBG2 Nonsynonymous SNV P689T 0.188 0.164 0.201 70 221 63 0.179 59 18 5 5 9 6.516 1482 chr1 23847464 23847464 C A rs2075995 E2F2 Nonsynonymous SNV Q226H 0.463 0.477 0.395 171 543 183 0.438 116 120 44 23 39 23.8 1483 chr1 26671248 26671248 A G rs57268417 CRYBG2 Nonsynonymous SNV V634A 0.188 0.164 0.201 70 221 63 0.179 59 18 5 5 9 8.723 1484 chr10 3202065 3202065 T C rs4242746 PITRM1 Nonsynonymous SNV I296V 0.607 0.557 0.565 237 713 214 0.608 166 220 55 48 75 0.002 1485 chr1 26671523 26671535 AAATGAGGCATCA - rs759140804 CRYBG2 D539Pfs*7 0.734 0.742 0.68 282 862 285 0.723 200 311 104 70 107 1486 chr1 26671539 26671542 GCAC - rs755623773 CRYBG2 G536Vfs*13 0.736 0.745 0.684 282 864 286 0.723 201 313 105 71 107 1487 chr10 3206027 3206027 A G rs4609511 PITRM1 Synonymous SNV P195P 0.646 0.62 0.588 249 758 238 0.638 173 248 72 52 83 0.423 1488 chr1 26671545 26671578 GGGCCCTTCACGACCTCTTTCCAGGTGGGGAACA - CRYBG2 L524Sfs*15 0.738 0.745 0.68 282 866 286 0.723 200 315 105 71 107 1489 chr10 27381431 27381431 G A rs191015656 ANKRD26 Nonsynonymous SNV T181I 0.012 0.005 0 1 14 2 0.003 0 1 0 0 0 Benign/Likely benign 24.3 1490 chr1 23965704 23965704 A C rs10917403 MDS2 Nonsynonymous SNV N37H 0.252 0.242 0.303 107 296 93 0.274 89 35 14 13 15 0.004 1491 chr1 26673076 26673076 G A rs11247924 CRYBG2 Nonsynonymous SNV R25W 0.181 0.164 0.201 68 213 63 0.174 59 16 5 5 9 22.1 1492 chr10 3208557 3208557 A G rs12359035 PITRM1 Synonymous SNV T62T 0.648 0.628 0.612 249 761 241 0.638 180 250 74 55 83 0.246 1493 chr10 32120678 32120678 C T rs2808100 ARHGAP12 Synonymous SNV G427G 0.224 0.219 0.211 85 263 84 0.218 62 29 10 9 10 15.78 1494 chr1 23966894 23966894 - AAG rs3072132 MDS2 R95_K96insR 0.242 0.232 0.282 106 284 89 0.272 83 36 14 13 16 1495 chr1 26673108 26673108 C T rs11247925 CRYBG2 Nonsynonymous SNV R14Q 0.181 0.164 0.201 68 213 63 0.174 59 16 5 5 9 17.03 1496 chr10 32128611 32128611 A G rs2808096 ARHGAP12 Nonsynonymous SNV F395S 0.156 0.146 0.241 60 183 56 0.154 71 27 11 10 10 15.44 1497 chr10 26434455 26434455 G T rs33947968 MYO3A Nonsynonymous SNV A833S 0.065 0.076 0.095 34 76 29 0.087 28 3 1 4 1 Benign/Likely benign 31 1498 chr10 25313254 25313254 C A rs41279892 THNSL1 Nonsynonymous SNV P368T 0.025 0.031 0.027 11 29 12 0.028 8 0 0 0 0 4.71 1499 chr1 26856462 26856462 T G rs11800553 RPS6KA1 Synonymous SNV P17P 0.226 0.203 0.279 96 265 78 0.246 82 131 39 41 47 7.986 1500 chr10 32141460 32141460 T C rs2799021 ARHGAP12 Synonymous SNV E338E 0.231 0.229 0.235 87 271 88 0.223 69 28 10 9 10 4.593 1501 chr10 28409544 28409544 C T rs118180599 MPP7 Synonymous SNV E223E 0.023 0.023 0.007 4 27 9 0.01 2 0 0 0 0 14.52 1502 chr1 26879920 26879920 T C rs4970490 RPS6KA1 Synonymous SNV A178A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.686 1503 chr10 29136129 29136129 A G rs813935 C10orf126 0.999 1 0 389 1173 384 0.997 0 586 192 0 194 0.491 1504 chr10 3214942 3214942 T C rs11818724 PITRM1 Nonsynonymous SNV Q8R 0.083 0.094 0.102 20 97 36 0.051 30 2 4 4 0 0.001 1505 chr10 25314230 25314230 A G rs371592668 THNSL1 Nonsynonymous SNV Y693C 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.93 1506 chr10 27702726 27702726 G A rs11015753 PTCHD3 Synonymous SNV L152L 0.346 0.357 0.347 124 406 137 0.318 102 75 32 20 17 4.053 1507 chr1 26883511 26883511 A C rs2229712 RPS6KA1 Nonsynonymous SNV K344T 0.225 0.266 0.259 94 264 102 0.241 76 26 10 12 11 19.41 1508 chr10 32974969 32974969 A G rs1762526 CCDC7 Nonsynonymous SNV I732V 0.997 1 0.976 388 1170 384 0.995 287 584 192 142 193 0.001 1509 chr1 24201094 24201094 G C rs2229581 CNR2 Synonymous SNV T338T 0.647 0.604 0.663 264 760 232 0.677 195 243 65 62 88 0.403 1510 chr10 27702744 27702744 A G rs11015754 PTCHD3 Synonymous SNV L146L 0.21 0.198 0.167 62 246 76 0.159 49 27 5 4 2 0.073 1511 chr1 27210721 27210721 T C rs3170660 GPN2 Nonsynonymous SNV R264G 0.725 0.758 0.646 273 851 291 0.7 190 310 111 62 96 14.63 1512 chr1 24201109 24201109 C T rs2229580 CNR2 Synonymous SNV P333P 0.647 0.604 0.663 264 760 232 0.677 195 243 65 62 88 4.038 1513 chr10 33211227 33211227 T G rs2230395 ITGB1 Synonymous SNV A362A 0.121 0.112 0.109 39 142 43 0.1 32 6 4 2 1 11.62 1514 chr10 26463052 26463052 C A rs35575696 MYO3A Nonsynonymous SNV P1287T 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.889 1515 chr1 24201262 24201262 A G rs2502993 CNR2 Synonymous SNV A282A 0.647 0.604 0.663 264 760 232 0.677 195 243 65 62 88 0.212 1516 chr10 33217110 33217110 G A rs2230394 ITGB1 Synonymous SNV Y153Y 0.123 0.112 0.109 39 144 43 0.1 32 7 4 2 1 2.233 1517 chr1 27320356 27320356 T C rs6689941 TRNP1 Nonsynonymous SNV W27R 1 0.997 0.803 389 1174 383 0.997 236 587 191 117 194 3.278 1518 chr10 21108377 21108377 C T rs1006363 NEBL Synonymous SNV R677R 0.17 0.18 0.238 63 199 69 0.162 70 20 5 6 8 Benign 17.14 1519 chr1 24201357 24201357 A G rs4649124 CNR2 Synonymous SNV L251L 0.647 0.607 0.663 264 760 233 0.677 195 243 65 62 88 1.707 1520 chr10 33469181 33469181 A G rs1048804 NRP1 Synonymous SNV S848S 0.303 0.255 0.265 97 356 98 0.249 78 48 16 16 18 0.517 1521 chr10 33510663 33510663 G A rs2229935 NRP1 Synonymous SNV Y422Y 0.198 0.203 0.201 66 232 78 0.169 59 20 9 8 6 10.07 1522 chr1 24201448 24201448 C T rs3003336 CNR2 Synonymous SNV V220V 0.647 0.604 0.663 264 760 232 0.677 195 243 65 62 88 5.282 1523 chr1 27427041 27427041 T C rs4418629 SLC9A1 Synonymous SNV E735E 0.958 0.969 0.949 373 1125 372 0.956 279 538 180 132 179 0.051 1524 chr10 33510768 33510768 G A rs2229934 NRP1 Synonymous SNV P387P 0.197 0.203 0.201 66 231 78 0.169 59 20 9 8 6 11.19 1525 chr1 24201643 24201643 G A rs2501431 CNR2 Synonymous SNV G155G 0.647 0.604 0.663 264 760 232 0.677 195 243 65 62 88 6.252 1526 chr10 26559571 26559571 G C rs1556234 GAD2 Synonymous SNV G326G 0.069 0.07 0.102 38 81 27 0.097 30 2 0 4 3 7.883 1527 chr10 33552696 33552696 A G rs7079053 NRP1 Nonsynonymous SNV V179A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.048 1528 chr1 24201919 24201919 T C rs2502992 CNR2 Synonymous SNV Q63Q 0.647 0.607 0.663 264 760 233 0.677 195 243 65 62 88 0.003 1529 chr1 27480757 27480757 A G rs34306208 SLC9A1 Synonymous SNV V23V 0.268 0.266 0.255 109 315 102 0.279 75 43 17 7 12 0.313 1530 chr10 29754675 29754675 A G rs56248456 SVIL Synonymous SNV P1568P 0.061 0.081 0.048 23 72 31 0.059 14 1 1 0 0 7.392 1531 chr10 26849744 26849744 A G rs148216770 APBB1IP Nonsynonymous SNV N447S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 1532 chr1 27676925 27676925 G A rs6702341 SYTL1 Synonymous SNV K318K 0.305 0.365 0.289 136 358 140 0.349 85 48 31 11 22 17.59 1533 chr1 24201920 24201920 T C rs2501432 CNR2 Nonsynonymous SNV Q63R 0.647 0.607 0.663 264 760 233 0.677 195 243 65 62 88 0.003 1534 chr10 34620220 34620220 C T rs3781128 PARD3 Synonymous SNV S814S 0.433 0.456 0.493 184 508 175 0.472 145 105 31 33 43 18 1535 chr10 29756842 29756842 G A rs199516107 SVIL-AS1 0.007 0.021 0.017 5 8 8 0.013 5 0 0 0 0 0.263 1536 chr1 27679797 27679797 A G rs3813795 SYTL1 Nonsynonymous SNV Q456R 0.678 0.69 0.697 271 796 265 0.695 205 274 91 72 100 7.994 1537 chr10 34649146 34649146 G C rs61735565 PARD3 Synonymous SNV T526T 0.023 0.018 0.041 15 27 7 0.038 12 0 0 0 0 0.028 1538 chr1 24406535 24406535 G A rs35446243 MYOM3 Nonsynonymous SNV P853S 0.143 0.169 0.146 55 168 65 0.141 43 14 2 3 3 2.782 1539 chr10 29747221 29747221 G A rs41299212 SVIL Synonymous SNV P1774P 0.083 0.068 0.061 25 98 26 0.064 18 3 2 0 1 10.98 1540 chr10 34688287 34688287 G A rs2796011 PARD3 Synonymous SNV H243H 0.999 0.995 0.997 389 1173 382 0.997 293 586 190 146 194 11.85 1541 chr10 35321414 35321414 C T rs16935840 CUL2 Synonymous SNV T310T 0.149 0.138 0.143 52 175 53 0.133 42 18 6 0 6 15.3 1542 chr10 29754535 29754535 G A rs17694739 SVIL Nonsynonymous SNV A1615V 0.085 0.068 0.058 25 100 26 0.064 17 4 2 0 1 24.8 1543 chr1 27679954 27679954 G A rs1128918 SYTL1 Synonymous SNV G508G 0.302 0.354 0.272 139 355 136 0.356 80 47 28 11 25 11.45 1544 chr10 27444389 27444389 G C rs151176548 MASTL Nonsynonymous SNV G12R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Benign/Likely benign 6.854 1545 chr10 35772401 35772401 C T rs756155029 CCNY Nonsynonymous SNV T75M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 1546 chr1 27680292 27680292 A G rs8533 SYTL1 Synonymous SNV E546E 0.693 0.737 0.721 284 813 283 0.728 212 286 105 75 106 9.639 1547 chr10 35772402 35772402 G A rs3802509 CCNY Synonymous SNV T75T 0.371 0.37 0.442 142 436 142 0.364 130 81 28 33 25 11.58 1548 chr10 29840012 29840012 C T rs752184901 SVIL Nonsynonymous SNV R114Q 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 34 1549 chr10 26463443 26463443 C T rs34151474 MYO3A Nonsynonymous SNV T1417I 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 Benign/Likely benign 0.196 1550 chr1 27687466 27687466 G T rs35659744 MAP3K6 Nonsynonymous SNV N614K 0.359 0.331 0.344 118 422 127 0.303 101 69 22 19 18 Benign 10.76 1551 chr10 30316072 30316072 C G rs3739998 JCAD Nonsynonymous SNV S1002T 0.407 0.414 0.476 141 478 159 0.362 140 89 31 38 30 0.774 1552 chr1 24417415 24417415 T C rs6700245 MYOM3 Nonsynonymous SNV Q435R 0.24 0.198 0.252 86 282 76 0.221 74 32 6 6 10 12.05 1553 chr10 38120642 38120642 C T rs1208731 ZNF248 Synonymous SNV P547P 0.141 0.135 0.112 47 165 52 0.121 33 17 5 0 1 12.36 1554 chr10 38241067 38241067 A C rs1208606 ZNF25 Nonsynonymous SNV N453K 0.141 0.135 0.105 47 165 52 0.121 31 17 5 0 1 0.024 1555 chr10 23729025 23729025 C T rs780011249 OTUD1 Synonymous SNV T213T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.21 1556 chr10 27499771 27499771 G A rs34613194 ACBD5 Synonymous SNV D215D 0.024 0.036 0.024 24 28 14 0.062 7 0 1 0 2 4.408 1557 chr1 27688633 27688633 G A rs1138294 MAP3K6 Nonsynonymous SNV T447I 0.279 0.323 0.279 147 328 124 0.377 82 41 23 9 27 12.12 1558 chr10 30317949 30317949 C T rs2478835 JCAD Synonymous SNV P376P 0.402 0.417 0.48 140 472 160 0.359 141 85 31 39 30 19.05 1559 chr10 43595968 43595968 A G rs1800858 RET Synonymous SNV A45A 0.745 0.74 0.684 294 875 284 0.754 201 335 107 68 109 Benign 0.252 1560 chr10 43606687 43606687 A G rs1800860 RET Synonymous SNV A178A 0.681 0.656 0.776 273 799 252 0.7 228 268 89 86 93 Benign 5.644 1561 chr10 27499804 27499804 T C rs34856168 ACBD5 Synonymous SNV A204A 0.024 0.036 0.024 24 28 14 0.062 7 0 1 0 2 0.124 1562 chr10 30629226 30629226 G A rs1047991 MTPAP Nonsynonymous SNV R162C 0.289 0.302 0.259 110 339 116 0.282 76 51 19 10 16 Benign 0.006 1563 chr10 43613843 43613843 G T rs1800861 RET Synonymous SNV L515L 0.743 0.76 0.673 306 872 292 0.785 198 321 108 71 120 Benign 11.06 1564 chr10 26559610 26559610 C T rs1805397 GAD2 Synonymous SNV T339T 0.024 0.01 0.041 4 28 4 0.01 12 0 0 0 0 11.49 1565 chr10 27506961 27506961 G A rs34037342 ACBD5 Synonymous SNV P150P 0.024 0.036 0.024 23 28 14 0.059 7 0 1 0 2 5.621 1566 chr1 27720353 27720353 C A rs11586015 GPR3 Synonymous SNV G17G 0.026 0.034 0.02 11 31 13 0.028 6 0 0 0 1 8.537 1567 chr10 44052903 44052903 A C rs2230661 ZNF239 Nonsynonymous SNV C209G 0.571 0.521 0.565 225 670 200 0.577 166 195 60 42 62 23 1568 chr10 26800759 26800759 C T rs35413798 APBB1IP Synonymous SNV D205D 0.015 0.026 0.017 5 18 10 0.013 5 0 0 0 0 14.3 1569 chr10 27381349 27381349 T C rs2297145 ANKRD26 Synonymous SNV V208V 0.146 0.164 0.18 52 171 63 0.133 53 20 3 7 6 Benign 0.041 1570 chr10 30317073 30317073 G A rs9337951 JCAD Synonymous SNV H668H 0.335 0.339 0.381 109 393 130 0.279 112 54 20 25 18 2.369 1571 chr1 27875363 27875363 G A rs149242867 AHDC1 Synonymous SNV S1088S 0.022 0.018 0.024 8 26 7 0.021 7 0 0 0 1 Benign 4.437 1572 chr10 29752485 29752485 G A rs56022643 SVIL Synonymous SNV S1645S 0.008 0 0.003 3 9 0 0.008 1 0 0 0 0 Benign 10.6 1573 chr10 44053013 44053013 G C rs2230660 ZNF239 Nonsynonymous SNV A172G 0.571 0.521 0.565 225 670 200 0.577 166 195 60 42 62 11.23 1574 chr1 27875824 27875824 C T rs4908364 AHDC1 Nonsynonymous SNV A935T 0.997 1 0.99 389 1170 384 0.997 291 583 192 144 194 17.09 1575 chr10 44053585 44053585 C T rs2999278 ZNF239 Synonymous SNV Q23Q 0.571 0.521 0.561 225 670 200 0.577 165 195 60 42 62 8.028 1576 chr10 27687534 27687534 - T rs144226969 PTCHD3 Frameshift insertion V665Sfs*2 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 1577 chr10 24832283 24832283 C G rs16924863 KIAA1217 Nonsynonymous SNV P1362A 0.047 0.049 0.048 17 55 19 0.044 14 3 0 1 1 0.004 1578 chr1 27876482 27876482 C A rs2076457 AHDC1 Synonymous SNV P715P 0.614 0.654 0.646 229 721 251 0.587 190 214 81 61 64 8.044 1579 chr10 445061 445061 C T rs6560837 DIP2C Synonymous SNV P416P 0.995 0.99 0.993 386 1168 380 0.99 292 581 188 145 191 18.11 1580 chr10 3143643 3143643 A C rs4881080 PFKP Synonymous SNV R90R 0.999 1 0.956 387 1173 384 0.992 281 586 192 140 192 0.006 1581 chr1 28209305 28209305 A G rs3766398 THEMIS2 Synonymous SNV L490L 0.652 0.615 0.663 259 765 236 0.664 195 248 70 65 89 4.264 1582 chr10 27436566 27436566 T C rs62622019 YME1L1 Nonsynonymous SNV N67S 0.035 0.031 0.037 10 41 12 0.026 11 1 0 0 0 0.002 1583 chr10 45496120 45496120 A T rs12269028 C10orf25 0.621 0.581 0.605 243 729 223 0.623 178 218 66 56 75 9.508 1584 chr10 30318705 30318705 C T rs41284752 JCAD Synonymous SNV R124R 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Benign 9.035 1585 chr10 3150898 3150898 C T rs11251721 PFKP Synonymous SNV V76V 0.247 0.208 0.218 102 290 80 0.262 64 39 10 8 14 11.23 1586 chr1 28209362 28209362 T C rs3766399 THEMIS2 Synonymous SNV V509V 0.649 0.617 0.663 258 762 237 0.662 195 246 72 66 88 0.005 1587 chr1 24680915 24680915 C T rs12030057 GRHL3 Synonymous SNV V536V 0.298 0.297 0.279 97 350 114 0.249 82 52 15 9 15 13.94 1588 chr10 45869748 45869748 C T rs4987105 ALOX5 Synonymous SNV T7T 0.164 0.193 0.143 69 193 74 0.177 42 14 9 4 6 15.46 1589 chr10 27459746 27459746 C G rs3802526 MASTL Nonsynonymous SNV P620A 0.037 0.031 0.041 10 43 12 0.026 12 1 0 0 0 Benign 0.836 1590 chr10 459940 459940 G A rs4881274 DIP2C Synonymous SNV L324L 0.565 0.583 0.605 226 663 224 0.579 178 193 70 56 64 9.879 1591 chr1 28209366 28209366 A G rs3766400 THEMIS2 Nonsynonymous SNV K511E 0.649 0.609 0.66 258 762 234 0.662 194 246 69 65 88 0.542 1592 chr10 46965018 46965018 C G rs3127785 LOC102724488, SYT15 Nonsynonymous SNV E193D 0.49 0.479 0.476 187 575 184 0.479 140 13 3 4 3 6.987 1593 chr1 24706269 24706269 A G rs1064842 STPG1 Synonymous SNV N65N 0.348 0.359 0.367 138 408 138 0.354 108 71 28 18 25 0.229 1594 chr1 28282292 28282292 T C rs3813803 SMPDL3B Nonsynonymous SNV V263A 0.248 0.216 0.241 77 291 83 0.197 71 38 7 13 7 23.7 1595 chr10 46965727 46965727 G A rs1889849 LOC102724488, SYT15 Synonymous SNV A154A 0.515 0.516 0.497 200 605 198 0.513 146 19 7 7 5 12.52 1596 chr10 46967059 46967059 A G rs3127788 LOC101927699 0 0 0.371 0 0 0 0 109 0 0 10 0 4.256 1597 chr10 3187749 3187749 A G rs3758632 PITRM1-AS1 0.668 0.617 0.408 274 784 237 0.703 120 262 70 51 99 8.806 1598 chr1 24706292 24706292 T C rs1142057 STPG1 Nonsynonymous SNV I58V 0.305 0.315 0.337 115 358 121 0.295 99 66 23 17 19 0.002 1599 chr10 46967672 46967672 C T rs2152530 LOC102724488, SYT15 Synonymous SNV P19P 0.519 0.518 0.524 202 609 199 0.518 154 22 7 7 7 10.4 1600 chr1 28806965 28806965 G C rs72661785 PHACTR4 Nonsynonymous SNV A547P 0.02 0.026 0.014 14 24 10 0.036 4 0 0 0 0 26.3 1601 chr10 3187924 3187924 T C rs3758631 PITRM1-AS1 0.664 0.609 0.619 272 780 234 0.697 182 261 68 64 97 1.456 1602 chr10 30747054 30747054 A T rs8177062 MAP3K8 Synonymous SNV S305S 0.019 0.018 0.017 13 22 7 0.033 5 0 0 1 0 Benign 5.527 1603 chr10 46968665 46968665 G A rs200814731 LOC102724488, SYT15 Synonymous SNV L144L 0.13 0.169 0.126 67 153 65 0.172 37 0 0 0 0 6.588 1604 chr1 24718075 24718075 T C rs2294520 STPG1 Synonymous SNV Q55Q 0.281 0.284 0.255 97 330 109 0.249 75 45 9 10 14 6.813 1605 chr10 46970792 46970792 G C rs915450 LOC102724488 Synonymous SNV P7P 0.464 0.445 0.245 182 545 171 0.467 72 10 5 4 2 6.513 1606 chr1 29138975 29138975 G T rs1042114 OPRD1 Nonsynonymous SNV C27F 0.876 0.849 0.884 356 1029 326 0.913 260 450 137 115 162 3.791 1607 chr10 29839787 29839787 A G rs10160013 SVIL Nonsynonymous SNV V189A 0.216 0.201 0.163 81 254 77 0.208 48 30 7 6 8 0.003 1608 chr10 46998894 46998894 G A rs3127817 GPRIN2 Nonsynonymous SNV R5H 0.43 0.419 0.503 174 505 161 0.446 148 14 3 1 3 0.078 1609 chr1 24785393 24785393 C T rs2272935 NIPAL3 Synonymous SNV A102A 0.289 0.294 0.282 100 339 113 0.256 83 46 10 13 14 18.47 1610 chr10 3154461 3154461 G A rs2306302 PFKP Synonymous SNV A163A 0.09 0.115 0.156 41 106 44 0.105 46 3 4 5 1 10.15 1611 chr1 29189597 29189597 C T rs2234918 OPRD1 Synonymous SNV G307G 0.549 0.589 0.541 203 644 226 0.521 159 172 73 42 52 12.89 1612 chr10 46998995 46998995 C G rs4926045 GPRIN2 Nonsynonymous SNV L39V 0.439 0.438 0.473 176 515 168 0.451 139 0 0 0 0 23.4 1613 chr10 3190499 3190499 A T rs61837966 PITRM1-AS1 0.096 0.081 0.071 27 113 31 0.069 21 11 1 1 3 2.581 1614 chr10 3155698 3155698 C T rs4881086 PFKP Synonymous SNV F237F 0.276 0.273 0.357 125 324 105 0.321 105 45 15 21 17 9.684 1615 chr1 29442291 29442291 C T rs536178 EPB41 Synonymous SNV T770T 0.072 0.112 0.119 33 85 43 0.085 35 1 3 2 1 17 1616 chr10 29840038 29840038 A G rs3740003 SVIL Synonymous SNV I105I 0.22 0.203 0.167 83 258 78 0.213 49 32 7 6 9 0.593 1617 chr1 29475341 29475341 C T rs2230678 SRSF4 Nonsynonymous SNV G356S 0.733 0.745 0.633 283 860 286 0.726 186 320 108 74 101 13.5 1618 chr10 29840164 29840164 A G rs3740002 SVIL Synonymous SNV S63S 0.216 0.201 0.16 81 254 77 0.208 47 30 7 6 8 8.835 1619 chr10 46998999 46998999 G A rs3127818 GPRIN2 Nonsynonymous SNV R40H 0.506 0.497 0.503 196 594 191 0.503 148 10 1 1 1 17.08 1620 chr10 27692205 27692205 G A rs11015742 PTCHD3 Synonymous SNV G431G 0.043 0.049 0.061 17 51 19 0.044 18 3 0 1 0 14.61 1621 chr10 29843833 29843833 C T rs1547169 SVIL Synonymous SNV G13G 0.216 0.201 0.16 81 253 77 0.208 47 30 7 6 8 13.84 1622 chr1 29475394 29475394 C G rs2230677 SRSF4 Nonsynonymous SNV G338A 0.733 0.745 0.602 283 861 286 0.726 177 320 108 73 101 0.006 1623 chr10 46999019 46999019 G A rs3127819 GPRIN2 Nonsynonymous SNV V47M 0.506 0.503 0.503 196 594 193 0.503 148 9 1 1 1 25.8 1624 chr1 26073242 26073242 G A rs75075607 MAN1C1 Nonsynonymous SNV A241T 0.021 0.023 0.014 18 25 9 0.046 4 0 0 0 0 20.5 1625 chr10 28101455 28101455 C A rs3737184 ARMC4 Nonsynonymous SNV R606S 0.016 0.008 0 3 19 3 0.008 0 2 0 0 0 Benign 23 1626 chr1 29475648 29475648 T G rs2230679 SRSF4 Nonsynonymous SNV E253D 0.87 0.883 0.888 338 1021 339 0.867 261 450 149 120 147 0.048 1627 chr10 46999151 46999151 T C rs3127820 GPRIN2 Nonsynonymous SNV W91R 0.506 0.5 0.503 196 594 192 0.503 148 7 1 1 1 1.246 1628 chr10 46999178 46999178 A C rs7090312 GPRIN2 Nonsynonymous SNV T100P 0.472 0.464 0.476 187 554 178 0.479 140 0 0 0 0 20 1629 chr1 29529699 29529699 T C rs1062924 MECR Synonymous SNV A123A 0.87 0.883 0.901 338 1021 339 0.867 265 449 149 120 147 8.437 1630 chr1 29542637 29542637 A G rs1128400 MECR Nonsynonymous SNV F20L 0.87 0.883 0.901 340 1021 339 0.872 265 449 149 120 149 13.07 1631 chr10 46999189 46999189 C T rs3127678 GPRIN2 Synonymous SNV G103G 0.507 0.503 0.503 196 595 193 0.503 148 8 1 1 1 11.15 1632 chr10 31138817 31138817 G A rs10160116 ZNF438 Nonsynonymous SNV P173S 0.298 0.271 0.276 123 350 104 0.315 81 55 16 13 22 0.057 1633 chr10 46999190 46999190 A G rs3127679 GPRIN2 Nonsynonymous SNV S104G 0.891 0.854 0.878 331 1046 328 0.849 258 459 136 111 136 0.032 1634 chr1 29630554 29630554 T C rs61733825 PTPRU Synonymous SNV Y888Y 0.038 0.049 0.02 13 45 19 0.033 6 0 1 0 1 0.046 1635 chr10 3200249 3200249 C T rs45600442 PITRM1 Synonymous SNV T379T 0.011 0.016 0.014 5 13 6 0.013 4 0 0 0 0 11.92 1636 chr1 29631909 29631909 A G rs2235937 PTPRU Nonsynonymous SNV N930S 0.239 0.214 0.221 115 280 82 0.295 65 36 12 6 21 9.22 1637 chr10 46999198 46999198 G T rs3127680 GPRIN2 Synonymous SNV L106L 0.507 0.503 0.503 196 595 193 0.503 148 8 1 1 1 7.004 1638 chr10 46999465 46999465 A G rs3127682 GPRIN2 Synonymous SNV S195S 0.507 0.503 0.503 196 595 193 0.503 148 8 1 1 1 0.003 1639 chr10 323283 323283 A G rs3740304 DIP2C Synonymous SNV Y1551Y 0.325 0.326 0.323 116 382 125 0.297 95 67 17 13 19 0.003 1640 chr10 27322306 27322306 C T rs146819984 ANKRD26 Nonsynonymous SNV V1218I 0.019 0.023 0.014 13 22 9 0.033 4 1 1 0 0 Benign 23.7 1641 chr10 46999484 46999484 G T rs11204658 GPRIN2 Nonsynonymous SNV G202W 0.477 0.477 0.48 189 560 183 0.485 141 0 0 0 0 23.7 1642 chr1 29644328 29644328 C T rs1045453 PTPRU Synonymous SNV R1191R 0.152 0.18 0.18 62 179 69 0.159 53 12 4 6 6 18.86 1643 chr10 32745262 32745262 T C rs7897978 CCDC7 Synonymous SNV N152N 0.122 0.115 0.109 40 143 44 0.103 32 9 4 1 2 0.076 1644 chr10 3155353 3155353 C T rs3816699 PFKP Synonymous SNV I183I 0.168 0.122 0.184 82 197 47 0.21 54 18 4 6 5 11.06 1645 chr1 31215364 31215364 T C rs1050663 LAPTM5 Synonymous SNV S40S 0.544 0.557 0.524 199 639 214 0.51 154 169 57 42 53 0.097 1646 chr1 31347399 31347399 C T rs4949184 SDC3 Nonsynonymous SNV D303N 0.158 0.141 0.146 50 185 54 0.128 43 10 3 4 2 22.4 1647 chr10 46999577 46999577 G T rs11204659 GPRIN2 Nonsynonymous SNV A233S 0.481 0.477 0.48 190 565 183 0.487 141 0 0 0 0 13.55 1648 chr1 26527951 26527951 G A rs6657616 CATSPER4 Nonsynonymous SNV D436N 0.255 0.279 0.241 84 299 107 0.215 71 33 15 2 7 13.37 1649 chr10 33018351 33018351 G C rs1414548 CCDC7 Synonymous SNV T957T 0.894 0.859 0.976 363 1050 330 0.931 287 525 165 142 181 1.253 1650 chr1 31349647 31349647 C T rs2491132 SDC3 Nonsynonymous SNV V208I 0.171 0.159 0.143 57 201 61 0.146 42 18 5 5 3 association 0.003 1651 chr10 46999591 46999591 - ATGAGGGAG rs112620425 GPRIN2 E240_V241insMRE 0.507 0.503 0.503 196 595 193 0.503 148 8 1 1 1 1652 chr1 26582091 26582091 G A rs3795686 CEP85 Nonsynonymous SNV S162N 0.263 0.305 0.316 120 309 117 0.308 93 38 16 17 18 0.01 1653 chr10 33123774 33123774 T C rs11009107 CCDC7 Synonymous SNV N1100N 0.4 0.406 0.136 169 470 156 0.433 40 96 32 16 41 0.035 1654 chr10 46999596 46999596 G A rs7895979 GPRIN2 Nonsynonymous SNV R239K 0.482 0.477 0.48 190 566 183 0.487 141 0 0 0 0 0.79 1655 chr10 3172115 3172115 C T rs11542778 PFKP Synonymous SNV L329L 0.021 0.018 0.014 16 25 7 0.041 4 0 0 0 0 11.76 1656 chr10 33123824 33123824 G C rs4448627 CCDC7 Nonsynonymous SNV G1117A 1 1 0.82 389 1174 384 0.997 241 587 192 120 194 0.001 1657 chr10 46999604 46999604 A G rs3127683 GPRIN2 Nonsynonymous SNV R242G 0.885 0.852 0.871 324 1039 327 0.831 256 452 135 109 129 0.03 1658 chr1 31351513 31351513 G A rs1891419 SDC3 Synonymous SNV P71P 0.231 0.203 0.221 74 271 78 0.19 65 35 6 8 10 12.05 1659 chr1 26596080 26596080 G A rs7550997 CEP85 Nonsynonymous SNV A491T 0.169 0.159 0.156 55 198 61 0.141 46 27 5 3 5 15.09 1660 chr10 46999678 46999678 C T rs112588003 GPRIN2 Synonymous SNV S266S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 1661 chr1 31898234 31898234 T C rs4949402 SERINC2 Synonymous SNV I154I 0.593 0.622 0.578 233 696 239 0.597 170 198 77 48 71 7.56 1662 chr10 32745248 32745248 A C rs56391924 CCDC7 Nonsynonymous SNV K148Q 0.082 0.073 0.102 24 96 28 0.062 30 1 0 2 1 22.9 1663 chr10 33137551 33137551 T C rs2504011 CCDC7 Nonsynonymous SNV M1267T 0.4 0.409 0.384 171 470 157 0.438 113 96 33 32 42 0.018 1664 chr10 46999732 46999732 G A rs4579877 GPRIN2 Synonymous SNV G284G 0.484 0.479 0.48 190 568 184 0.487 141 0 0 0 0 0.363 1665 chr1 31898639 31898639 C T rs35976845 SERINC2 Synonymous SNV G167G 0.115 0.096 0.085 37 135 37 0.095 25 5 3 1 3 12.3 1666 chr10 46999747 46999747 T C rs3127821 GPRIN2 Synonymous SNV H289H 0.507 0.503 0.503 196 595 193 0.503 148 8 1 1 1 0.002 1667 chr10 32856746 32856746 A C rs12268559 CCDC7 Nonsynonymous SNV K449T 0.079 0.068 0.099 24 93 26 0.062 29 1 0 2 1 2.779 1668 chr1 31905889 31905889 - CAG rs3050461 SERINC2 Q372_V373insQ 0.869 0.87 0.878 327 1020 334 0.838 258 440 148 112 143 1669 chr1 26608849 26608858 TGGGGCCGGG - rs761408866 UBXN11 P379Vfs*25 0.122 0.115 0.136 39 143 44 0.1 40 28 5 4 4 1670 chr10 33143396 33143396 G A rs1418538 CCDC7 Nonsynonymous SNV V1364I 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.001 1671 chr10 46999922 46999922 G T rs4926046 GPRIN2 Nonsynonymous SNV V348L 0.359 0.354 0.327 138 421 136 0.354 96 0 0 0 0 26.6 1672 chr1 26608860 26608867 CCGGGACC - rs749678087 UBXN11 G376Sfs*29 0.121 0.117 0.133 39 142 45 0.1 39 27 5 3 4 1673 chr1 32127953 32127953 G A rs2271928 COL16A1 Synonymous SNV D1221D 0.414 0.445 0.401 160 486 171 0.41 118 102 42 20 32 8.853 1674 chr1 26608878 26608883 CCGGGA - rs140364749 UBXN11 G372_P373del 0.124 0.117 0.133 39 145 45 0.1 39 27 5 3 4 1675 chr10 32872120 32872120 C T rs12244832 CCDC7 Nonsynonymous SNV T538I 0.095 0.089 0 41 112 34 0.105 0 4 0 0 2 8.059 1676 chr10 47000004 47000004 T C rs3127822 GPRIN2 Nonsynonymous SNV V375A 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.001 1677 chr1 32148571 32148571 A G rs10737358 COL16A1 Synonymous SNV P834P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.079 1678 chr10 33209266 33209266 G T rs2230396 ITGB1 Synonymous SNV G392G 0.878 0.891 0.878 349 1031 342 0.895 258 451 154 116 155 11.83 1679 chr10 32740798 32740798 - T rs146679927 CCDC7 Frameshift insertion L77Ffs*6 0.02 0.031 0.017 10 23 12 0.026 5 2 0 1 0 1680 chr1 32158374 32158374 T C rs3818788 COL16A1 Synonymous SNV P369P 0.618 0.563 0.585 238 726 216 0.61 172 243 65 49 66 2.529 1681 chr10 47000071 47000071 G A rs4244614 GPRIN2 Synonymous SNV A397A 0.483 0.477 0.463 190 567 183 0.487 136 0 0 0 0 8.385 1682 chr10 47000079 47000079 T C rs3127823 GPRIN2 Nonsynonymous SNV L400P 0.507 0.503 0.5 196 595 193 0.503 147 8 1 1 1 5.869 1683 chr1 32164206 32164206 T G rs2228550 COL16A1 Synonymous SNV R90R 0.64 0.581 0.612 236 751 223 0.605 180 249 71 56 66 15.7 1684 chr1 26612460 26612460 G A rs11247900 UBXN11 Synonymous SNV L90L 0.193 0.19 0.167 57 227 73 0.146 49 33 5 4 5 12.74 1685 chr10 47000146 47000146 C T rs3127684 GPRIN2 Synonymous SNV P422P 0.505 0.5 0.497 196 593 192 0.503 146 6 0 1 1 8.593 1686 chr1 32165495 32165495 G T rs2228552 COL16A1 Nonsynonymous SNV T62K 0.625 0.568 0.571 231 734 218 0.592 168 239 67 48 63 4.717 1687 chr10 47000188 47000188 A G rs3127824 GPRIN2 Synonymous SNV P436P 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.008 1688 chr10 47000239 47000239 C T rs7912299 GPRIN2 Synonymous SNV S453S 0.498 0.492 0.442 196 585 189 0.503 130 8 1 1 1 14.11 1689 chr10 47086915 47086915 C T rs59974223 NPY4R, NPY4R2 Synonymous SNV I44I 0.204 0.208 0.19 86 239 80 0.221 56 0 0 0 0 Benign 11.99 1690 chr1 32193647 32193647 T C rs1127100 ADGRB2 Synonymous SNV A1483A 0.641 0.565 0.588 234 752 217 0.6 173 248 64 54 63 7.372 1691 chr10 47086978 47086978 G A rs3740294 NPY4R, NPY4R2 Synonymous SNV V65V 0.213 0.221 0.204 89 250 85 0.228 60 0 0 0 0 4.691 1692 chr10 3191830 3191830 G C rs41305673 PITRM1 Nonsynonymous SNV F586L 0.049 0.076 0.044 18 58 29 0.046 13 3 0 0 0 29.6 1693 chr1 32279629 32279629 G A rs6669563 SPOCD1 Nonsynonymous SNV R436W 0.468 0.477 0.374 147 549 183 0.377 110 132 44 24 24 21 1694 chr10 47087078 47087078 G T rs2229967 NPY4R, NPY4R2 Nonsynonymous SNV A99S 0.279 0.281 0.306 106 327 108 0.272 90 0 0 0 0 Benign 23.2 1695 chr10 33200468 33200468 G A rs2298139 ITGB1 Synonymous SNV C613C 0.073 0.076 0.095 23 86 29 0.059 28 0 0 2 1 12.49 1696 chr1 32280610 32280610 T C rs6664445 SPOCD1 Nonsynonymous SNV T109A 0.668 0.698 0.66 251 784 268 0.644 194 255 92 63 85 0.001 1697 chr10 38121631 38121631 T C rs11011379 ZNF248 Nonsynonymous SNV K218E 0.035 0.047 0.02 8 41 18 0.021 6 1 0 0 0 0.001 1698 chr10 47087474 47087474 C T rs1129838 NPY4R, NPY4R2 Synonymous SNV L231L 0.71 0.727 0.697 273 834 279 0.7 205 247 87 58 78 Benign 10.27 1699 chr10 33208925 33208925 C G ITGB1 Nonsynonymous SNV E453Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 1700 chr10 47087608 47087608 T C rs1936339 NPY4R, NPY4R2 Synonymous SNV A275A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.001 1701 chr1 33065947 33065947 G C rs704886 ZBTB8A Nonsynonymous SNV G418A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 23.7 1702 chr10 47087680 47087680 C T rs1048157 NPY4R, NPY4R2 Synonymous SNV H299H 0.71 0.727 0.697 273 833 279 0.7 205 246 87 58 78 Benign 11 1703 chr10 43292647 43292647 A G rs787795 BMS1 Nonsynonymous SNV K652R 0.188 0.182 0.231 64 221 70 0.164 68 19 11 6 4 13.66 1704 chr10 47087731 47087731 C T rs1048158 NPY4R, NPY4R2 Synonymous SNV C316C 0.71 0.727 0.697 273 834 279 0.7 205 247 87 58 78 Benign 10.65 1705 chr10 47087830 47087830 G A rs1129839 NPY4R, NPY4R2 Synonymous SNV S349S 0.71 0.727 0.697 273 834 279 0.7 205 247 87 58 78 Benign 1.211 1706 chr10 33214802 33214802 A G rs2298141 ITGB1 Synonymous SNV C261C 0.205 0.237 0.173 77 241 91 0.197 51 24 10 5 7 5.002 1707 chr1 33133968 33133968 T C rs2762904 RBBP4 Synonymous SNV V150V 0.998 1 0.973 389 1172 384 0.997 286 585 192 142 194 6.463 1708 chr10 48370595 48370595 G A rs11204210 ZNF488 Synonymous SNV G21G 0.367 0.388 0.412 138 431 149 0.354 121 70 24 29 17 6.243 1709 chr10 48428941 48428941 T C rs35421500 GDF10 Synonymous SNV A315A 0.032 0.034 0.031 23 37 13 0.059 9 4 0 0 0 0.005 1710 chr10 34408636 34408636 T C rs11009651 PARD3 Synonymous SNV R1082R 0.328 0.349 0.289 120 385 134 0.308 85 58 26 11 18 2.454 1711 chr1 33160878 33160878 C T rs360042 SYNC Nonsynonymous SNV R274Q 0.943 0.924 0.918 362 1107 355 0.928 270 523 164 123 167 21.5 1712 chr10 48428994 48428994 G A GDF10 Nonsynonymous SNV L298F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 1713 chr1 26672046 26672046 T G CRYBG2 Nonsynonymous SNV H368P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.432 1714 chr10 49393688 49393688 C A rs116266683 FRMPD2 Nonsynonymous SNV G731V 0.017 0.016 0.01 9 20 6 0.023 3 0 0 0 0 22.8 1715 chr1 33161212 33161212 T C rs360041 SYNC Nonsynonymous SNV M163V 0.943 0.924 0.918 362 1107 355 0.928 270 523 164 123 167 0.001 1716 chr1 26694245 26694245 T C rs10794531 ZNF683 Nonsynonymous SNV H53R 0.279 0.273 0.265 87 327 105 0.223 78 41 14 9 10 0.009 1717 chr10 34558715 34558715 C T rs149455520 PARD3 Nonsynonymous SNV G988R 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 22.9 1718 chr10 35302705 35302705 C T rs12830 CUL2 Synonymous SNV S574S 0.399 0.359 0.177 146 468 138 0.374 52 98 25 9 32 17.44 1719 chr10 3197856 3197856 C G rs3765101 PITRM1 Nonsynonymous SNV Q484H 0.043 0.039 0.027 16 50 15 0.041 8 2 0 0 1 0.207 1720 chr10 49667795 49667795 T C rs3853761 ARHGAP22 Synonymous SNV P107P 0.998 1 0.99 389 1172 384 0.997 291 585 192 144 194 0.859 1721 chr1 33235626 33235626 G A rs3737995 KIAA1522 Synonymous SNV A223A 0.344 0.346 0.344 124 404 133 0.318 101 65 27 21 15 3.168 1722 chr1 26694260 26694260 T C rs10794532 ZNF683 Nonsynonymous SNV D48G 0.211 0.203 0.184 66 248 78 0.169 54 30 8 3 6 16.41 1723 chr10 49687800 49687800 G A rs4080665 ARHGAP22 Synonymous SNV A20A 0.809 0.815 0.881 320 950 313 0.821 259 444 145 115 145 15.89 1724 chr1 33646950 33646950 A G rs622407 TRIM62 Synonymous SNV H28H 0.739 0.776 0.769 299 868 298 0.767 226 318 113 87 112 0.011 1725 chr10 49939546 49939546 A T rs145135195 WDFY4 Synonymous SNV S507S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.126 1726 chr10 35896957 35896957 G A rs595652 GJD4 Synonymous SNV K172K 0.226 0.227 0.18 84 265 87 0.215 53 33 12 6 9 8.127 1727 chr10 49998824 49998824 C T rs10857644 WDFY4 Synonymous SNV G1373G 0.136 0.159 0.126 70 160 61 0.179 37 12 6 1 7 18.95 1728 chr1 33790496 33790496 G A rs11554674 PHC2 Synonymous SNV Y314Y 0.219 0.188 0.204 93 257 72 0.238 60 30 7 7 12 3.585 1729 chr10 35897017 35897017 A G rs145646764 GJD4 Synonymous SNV T192T 0.044 0.052 0.044 18 52 20 0.046 13 2 0 0 1 13.84 1730 chr10 44104101 44104101 C T rs45545532 ZNF485 Nonsynonymous SNV R22W 0.167 0.169 0.173 55 196 65 0.141 51 16 6 5 5 22.9 1731 chr10 50013402 50013402 T C rs2170132 WDFY4 Nonsynonymous SNV S1528P 0.395 0.388 0.405 154 464 149 0.395 119 96 32 23 37 7.16 1732 chr1 33820033 33820033 C T rs16835408 PHC2 Synonymous SNV T480T 0.095 0.099 0.065 28 111 38 0.072 19 7 1 0 4 19 1733 chr10 32580205 32580205 C T rs72789797 EPC1 Nonsynonymous SNV M287I 0.078 0.096 0.071 23 91 37 0.059 21 3 0 1 1 22.5 1734 chr1 33820134 33820134 C T rs12026290 PHC2 Nonsynonymous SNV V447M 0.217 0.185 0.221 91 255 71 0.233 65 30 7 7 12 11.99 1735 chr10 38120720 38120720 C T rs1779132 ZNF248 Synonymous SNV K521K 0.14 0.135 0.109 47 164 52 0.121 32 17 5 0 1 9.345 1736 chr10 44111806 44111806 G A rs10899839 ZNF485 Synonymous SNV L14L 0.255 0.268 0.282 86 299 103 0.221 83 30 16 11 9 4.985 1737 chr10 50022040 50022040 G A rs41283275 WDFY4 Synonymous SNV R1751R 0.138 0.141 0.146 51 162 54 0.131 43 16 4 2 3 9.812 1738 chr10 408467 408467 G A rs41289247 DIP2C Synonymous SNV C919C 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 Benign 11.72 1739 chr1 26887592 26887592 T C rs1064196 RPS6KA1 Synonymous SNV Y475Y 0.269 0.305 0.32 109 316 117 0.279 94 41 17 14 16 5.084 1740 chr10 30315676 30315676 G A rs61732650 JCAD Nonsynonymous SNV P1134L 0.003 0.013 0.007 6 3 5 0.015 2 0 0 0 0 0.994 1741 chr10 38120945 38120945 A G rs1211708 ZNF248 Synonymous SNV C446C 0.14 0.135 0.109 47 164 52 0.121 32 17 5 0 1 0.005 1742 chr10 50025446 50025446 G T rs12268007 WDFY4 Nonsynonymous SNV A1833S 0.129 0.13 0.133 53 152 50 0.136 39 13 3 2 3 0.379 1743 chr10 429980 429980 G A rs112940959 DIP2C Synonymous SNV D621D 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 Benign 2.366 1744 chr1 33832865 33832865 A G rs6425816 PHC2 Synonymous SNV P247P 0.6 0.523 0.646 229 704 201 0.587 190 221 58 61 59 6.424 1745 chr1 33945192 33945192 T A rs16835507 ZSCAN20 Synonymous SNV T101T 0.161 0.143 0.143 66 189 55 0.169 42 19 5 1 3 13.56 1746 chr10 50028308 50028308 C T rs41283279 WDFY4 Synonymous SNV T1845T 0.084 0.096 0.088 37 99 37 0.095 26 6 2 1 0 7.93 1747 chr1 27278521 27278521 G A rs3010110 KDF1 Synonymous SNV D117D 0.298 0.313 0.272 116 350 120 0.297 80 53 19 10 20 0.014 1748 chr1 33956743 33956743 G A rs41265903 ZSCAN20 Synonymous SNV E295E 0.021 0.016 0.027 8 25 6 0.021 8 1 0 0 0 9.743 1749 chr10 395302 395302 G A rs45485096 DIP2C Synonymous SNV D1026D 0.017 0.016 0.027 7 20 6 0.018 8 0 0 0 0 Benign 5.977 1750 chr10 50034833 50034833 G A rs6537579 WDFY4 Nonsynonymous SNV G2034S 0.142 0.141 0.15 53 167 54 0.136 44 16 4 3 3 4.594 1751 chr1 33957152 33957152 T G rs4403594 ZSCAN20 Nonsynonymous SNV Y432D 0.994 0.99 0.997 387 1167 380 0.992 293 580 188 146 192 9.728 1752 chr10 32983890 32983890 A G rs778503556 CCDC7 Nonsynonymous SNV K810E 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.001 1753 chr10 45953767 45953767 A G rs7908745 MARCHF8 Nonsynonymous SNV Y266H 0.276 0.286 0.306 120 324 110 0.308 90 43 15 13 14 5.856 1754 chr1 27278553 27278553 G A rs3010109 KDF1 Nonsynonymous SNV R107W 0.214 0.211 0.197 92 251 81 0.236 58 26 5 5 11 28.8 1755 chr10 50038800 50038800 A G rs3747874 WDFY4 Synonymous SNV Q2132Q 0.601 0.656 0.616 249 705 252 0.638 181 218 87 57 83 0.105 1756 chr10 43610119 43610119 G A rs1799939 RET Nonsynonymous SNV G437S 0.233 0.253 0.187 98 273 97 0.251 55 34 10 4 8 Conflicting interpretations of pathogenicity 10.4 1757 chr10 436735 436735 G A rs111884455 DIP2C Synonymous SNV D443D 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 Benign 7.779 1758 chr10 50038878 50038878 G C rs41283281 WDFY4 Nonsynonymous SNV E2158D 0.086 0.099 0.092 38 101 38 0.097 27 6 2 1 0 20.2 1759 chr10 45958856 45958856 G C rs2291428 MARCHF8 Nonsynonymous SNV F277L 0.24 0.24 0.255 105 282 92 0.269 75 33 12 10 9 6.191 1760 chr1 33960062 33960062 A G rs9943259 ZSCAN20 Synonymous SNV A706A 0.773 0.737 0.711 309 907 283 0.792 209 349 106 72 122 0.006 1761 chr10 33136819 33136820 AA - rs371466318 CCDC7 K1250Dfs*8 0.047 0.029 0.017 20 55 11 0.051 5 0 0 0 0 1762 chr1 34038214 34038214 T C rs2641962 CSMD2 Nonsynonymous SNV M2552V 0.486 0.518 0.531 223 571 199 0.572 156 138 49 38 57 0.002 1763 chr10 45958881 45958881 A C rs2291429 MARCHF8 Nonsynonymous SNV L269W 0.24 0.24 0.248 105 282 92 0.269 73 33 12 10 9 0.393 1764 chr10 50098739 50098739 G C rs41283283 WDFY4 Nonsynonymous SNV G2428A 0.081 0.096 0.085 38 95 37 0.097 25 4 1 1 0 23.3 1765 chr10 43615633 43615633 C G rs1800863 RET Synonymous SNV S650S 0.241 0.258 0.19 98 283 99 0.251 56 38 10 4 8 Benign 14.87 1766 chr1 34071525 34071525 C T rs1874045 CSMD2 Nonsynonymous SNV R2096K 0.558 0.516 0.537 213 655 198 0.546 158 179 53 44 53 0.154 1767 chr10 50109902 50109902 G A rs2663046 WDFY4 Nonsynonymous SNV S2527N 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.089 1768 chr10 43620335 43620335 C T rs17158558 RET Nonsynonymous SNV R728C 0.035 0.047 0.017 15 41 18 0.038 5 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 1769 chr10 46143958 46143958 T G rs17854567 ZFAND4 Nonsynonymous SNV K118T 0.122 0.133 0.133 66 143 51 0.169 39 9 5 5 3 22.6 1770 chr1 34285342 34285342 G A rs17342512 CSMD2 Synonymous SNV A432A 0.544 0.589 0.565 202 639 226 0.518 166 176 71 48 51 12.21 1771 chr1 34285381 34285381 C T rs11578857 CSMD2 Synonymous SNV K419K 0.546 0.589 0.565 202 641 226 0.518 166 178 71 48 51 15.72 1772 chr10 50121784 50121784 T C rs10776653 LRRC18 Synonymous SNV T139T 0.609 0.651 0.626 258 715 250 0.662 184 207 79 57 91 0.121 1773 chr10 43869097 43869097 C A rs10899795 FXYD4 0.251 0.237 0.194 96 295 91 0.246 57 40 9 10 12 7.525 1774 chr10 50122181 50122181 C A rs7094610 LRRC18 Nonsynonymous SNV G7V 0.396 0.414 0.432 154 465 159 0.395 127 90 31 29 32 2.27 1775 chr1 34329897 34329897 T C rs911218 HMGB4 Synonymous SNV Y35Y 0.985 0.974 0.976 383 1156 374 0.982 287 569 182 140 188 0.004 1776 chr10 45430462 45430462 C T rs17417442 TMEM72 Synonymous SNV A118A 0.392 0.349 0.395 161 460 134 0.413 116 83 26 24 36 10.77 1777 chr10 32807434 32807434 G T rs41276068 CCDC7 0.072 0.06 0.085 31 84 23 0.079 25 7 2 1 2 21.6 1778 chr10 387189 387189 G A rs140930714 DIP2C Synonymous SNV I1178I 0.017 0.008 0 3 20 3 0.008 0 0 0 0 0 Benign 11.32 1779 chr1 34330067 34330067 A C rs10379 HMGB4 Nonsynonymous SNV E18A 0.773 0.81 0.816 293 907 311 0.751 240 355 125 99 111 12.56 1780 chr10 45478092 45478092 A G rs870957 RASSF4 Nonsynonymous SNV R88G 0.221 0.234 0.218 81 260 90 0.208 64 27 10 10 4 4.505 1781 chr10 50184949 50184949 C T rs2271565 WDFY4 Synonymous SNV C3072C 0.486 0.427 0.517 180 571 164 0.462 152 135 31 38 43 14.92 1782 chr1 34663180 34663180 G A rs3795412 C1orf94 Synonymous SNV R225R 0.217 0.229 0.262 81 255 88 0.208 77 20 6 10 10 2.387 1783 chr10 50186415 50186415 C T rs2292584 WDFY4 Nonsynonymous SNV P3118L 0.487 0.427 0.524 181 572 164 0.464 154 136 31 39 44 8.866 1784 chr1 34663208 34663208 C G rs1382602 C1orf94 Nonsynonymous SNV Q235E 0.273 0.289 0.337 108 320 111 0.277 99 36 12 16 14 0.003 1785 chr10 46970573 46970573 C G rs6587511 LOC102724488 Synonymous SNV G80G 0.316 0.315 0.051 116 371 121 0.297 15 0 0 0 0 9.14 1786 chr10 50227785 50227785 T C rs1913525 VSTM4 Synonymous SNV E291E 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 2.196 1787 chr10 46970654 46970654 C A rs915449 LOC102724488 Synonymous SNV T53T 0.502 0.492 0.207 195 589 189 0.5 61 10 1 1 3 11.83 1788 chr1 34663411 34663411 C G rs1414474 C1orf94 Nonsynonymous SNV D302E 0.261 0.271 0.299 97 307 104 0.249 88 30 10 12 12 12.92 1789 chr10 50339754 50339754 G T rs73302786 FAM170B Nonsynonymous SNV D252E 0.183 0.201 0.231 87 215 77 0.223 68 19 12 14 7 0.214 1790 chr1 35223345 35223345 G A rs3738345 GJB5 Synonymous SNV K138K 0.221 0.279 0.245 66 259 107 0.169 72 27 13 11 5 5.548 1791 chr10 50339962 50339962 A T rs75297145 FAM170B Nonsynonymous SNV L183Q 0.167 0.19 0.211 75 196 73 0.192 62 19 10 13 4 9.141 1792 chr10 46965887 46965887 - G rs112965082 LOC102724488, SYT15 0.277 0.26 0.228 113 325 100 0.29 67 0 0 0 0 1793 chr1 28060574 28060574 A G rs6670793 FAM76A Synonymous SNV A78A 0.027 0.055 0.051 16 32 21 0.041 15 0 1 1 0 5.103 1794 chr10 45487381 45487381 C T rs146647075 RASSF4 Nonsynonymous SNV P279L 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 34 1795 chr1 35250586 35250586 C T rs370476720 GJB3 Nonsynonymous SNV R75C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 1796 chr10 32308786 32308786 G A rs200339436 KIF5B Nonsynonymous SNV T769M 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 23.9 1797 chr10 43976983 43976983 T C rs12359980 ZNF487 Synonymous SNV N83N 0.17 0.13 0.177 52 200 50 0.133 52 20 2 5 3 0.594 1798 chr10 35896700 35896700 C T rs76906304 GJD4 Nonsynonymous SNV L87F 0.017 0.013 0.01 7 20 5 0.018 3 0 0 0 0 24.7 1799 chr10 50531604 50531604 T C rs7093235 C10orf71 Synonymous SNV L338L 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.001 1800 chr10 44052574 44052574 G A rs61731402 ZNF239 Synonymous SNV P318P 0.013 0.003 0.003 2 15 1 0.005 1 0 0 0 0 9.859 1801 chr1 35250720 35250720 C T rs41310442 GJB3 Synonymous SNV N119N 0.036 0.044 0.034 12 42 17 0.031 10 0 0 0 1 Benign 7.094 1802 chr10 415447 415447 G A rs143486792 DIP2C Synonymous SNV L706L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Likely benign 11.33 1803 chr10 50532683 50532683 T C rs7921186 C10orf71 Nonsynonymous SNV F698S 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 21.8 1804 chr10 32560526 32560526 T C rs151296453 EPC1 Synonymous SNV Q775Q 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.178 1805 chr1 35259961 35259961 A G rs1764390 GJA4 Synonymous SNV Q49Q 0.652 0.714 0.646 260 765 274 0.667 190 250 93 62 85 0.039 1806 chr10 33475282 33475282 C T rs2228638 NRP1 Nonsynonymous SNV V727I 0.06 0.047 0.068 18 70 18 0.046 20 5 0 1 0 19.28 1807 chr10 50533617 50533617 T C rs2377940 C10orf71 Synonymous SNV G1009G 0.962 0.984 0.976 368 1129 378 0.944 287 542 186 140 173 0.071 1808 chr10 429977 429977 G A rs10904083 DIP2C Synonymous SNV G622G 0.33 0.362 0.35 133 388 139 0.341 103 64 29 20 20 3.856 1809 chr1 35260202 35260202 G A rs41266431 GJA4 Nonsynonymous SNV V130I 0.173 0.185 0.156 75 203 71 0.192 46 10 9 4 7 0.002 1810 chr10 50533776 50533776 C G rs10857471 C10orf71 Synonymous SNV P1062P 0.43 0.417 0.442 155 505 160 0.397 130 107 35 30 32 7.85 1811 chr10 50534599 50534599 G A rs10857472 C10orf71 Nonsynonymous SNV G1337S 0.428 0.414 0.439 154 503 159 0.395 129 107 35 29 31 23.1 1812 chr10 46999030 46999030 C T rs4925989 GPRIN2 Synonymous SNV A50A 0.456 0.453 0.463 179 535 174 0.459 136 0 0 0 0 14.38 1813 chr1 35562965 35562965 G A rs2971408 ZMYM1 Nonsynonymous SNV V73M 0.915 0.93 0.915 358 1074 357 0.918 269 490 165 124 164 5.995 1814 chr1 28800380 28800380 C A rs61785974 PHACTR4 Nonsynonymous SNV L390I 0.305 0.299 0.313 130 358 115 0.333 92 61 21 16 18 7.72 1815 chr10 50534862 50534862 T C rs12411843 C10orf71 Synonymous SNV D1424D 0.259 0.255 0.224 107 304 98 0.274 66 32 10 9 16 0.023 1816 chr10 44111800 44111800 T C rs17447580 ZNF485 Synonymous SNV S12S 0.066 0.073 0.085 30 78 28 0.077 25 4 1 2 1 0.088 1817 chr10 50681033 50681033 G A rs2229760 ERCC6 Synonymous SNV G917G 0.382 0.401 0.391 137 448 154 0.351 115 85 35 24 21 Benign 8.586 1818 chr1 36202585 36202585 G A rs35490896 CLSPN Nonsynonymous SNV S1216L 0.081 0.068 0.071 37 95 26 0.095 21 3 0 0 0 24.5 1819 chr1 28861636 28861636 G A rs2066726 RCC1 Synonymous SNV V172V 0.304 0.307 0.33 132 357 118 0.338 97 61 22 19 19 3.603 1820 chr10 50740876 50740876 G C rs2228524 ERCC6 Synonymous SNV L45L 0.75 0.753 0.786 285 880 289 0.731 231 327 110 92 101 Benign 0.643 1821 chr10 50820345 50820345 C A rs8187730 SLC18A3 Nonsynonymous SNV A520E 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 5.796 1822 chr1 28887860 28887860 G A rs76411095 TRNAU1AP Synonymous SNV A76A 0.038 0.049 0.037 14 45 19 0.036 11 1 1 1 0 11.62 1823 chr1 36203660 36203662 TTC - rs200760879 CLSPN E1135del 0.071 0.063 0.068 34 83 24 0.087 20 3 0 0 0 1824 chr10 43871158 43871158 G A rs41307500 FXYD4 Nonsynonymous SNV C63Y 0.032 0.023 0.031 9 37 9 0.023 9 0 0 0 0 27.1 1825 chr10 50820370 50820370 C T rs77758906 SLC18A3 Synonymous SNV Y528Y 0.027 0.023 0.024 3 32 9 0.008 7 0 0 0 0 8.518 1826 chr1 36225948 36225948 T C rs7537203 CLSPN Nonsynonymous SNV N525S 0.183 0.177 0.156 79 215 68 0.203 46 22 3 5 4 24.7 1827 chr10 50824117 50824117 G A rs1880676 CHAT Nonsynonymous SNV D7N 0.274 0.271 0.231 104 322 104 0.267 68 41 12 5 13 Benign 6.772 1828 chr10 43971248 43971248 C G rs11816311 ZNF487 Nonsynonymous SNV P32R 0.032 0.026 0.031 10 38 10 0.026 9 0 0 0 0 6.943 1829 chr10 45495808 45495808 A - rs138221258 C10orf25 0.037 0.026 0 15 44 10 0.038 0 1 1 0 0 1830 chr10 50824619 50824619 G A rs3810950 CHAT Nonsynonymous SNV A2T 0.277 0.271 0.231 104 325 104 0.267 68 43 12 5 13 Benign 10.83 1831 chr1 36307272 36307272 A T rs145609935 AGO4 Nonsynonymous SNV D699V 0.004 0.003 0 3 5 1 0.008 0 1 0 0 0 26.1 1832 chr10 33552695 33552695 C T rs2070296 NRP1 Synonymous SNV V179V 0.152 0.182 0.156 63 179 70 0.162 46 13 7 2 5 9.028 1833 chr1 29320013 29320013 G A rs111642750 EPB41 Nonsynonymous SNV V214I 0.06 0.044 0.054 29 70 17 0.074 16 1 0 0 0 Uncertain significance 23.7 1834 chr10 43971579 43971579 T G rs41306552 ZNF487 Nonsynonymous SNV V21G 0.032 0.026 0.031 10 38 10 0.026 9 0 0 0 0 22.9 1835 chr1 36316571 36316571 A C rs4652895 AGO4 Synonymous SNV S798S 0.813 0.815 0.833 306 955 313 0.785 245 390 124 104 116 0.145 1836 chr10 50854570 50854570 G A rs115126024 CHAT Synonymous SNV S259S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.86 1837 chr10 45496126 45496126 G A rs41301609 C10orf25 0.037 0.026 0.037 15 44 10 0.038 11 1 1 0 0 0.239 1838 chr1 36553673 36553673 A G rs399393 TEKT2 Synonymous SNV T393T 0.888 0.917 0.901 349 1043 352 0.895 265 461 161 119 156 0.018 1839 chr10 50856652 50856652 G A rs4838544 CHAT Nonsynonymous SNV V343M 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 Benign 12.93 1840 chr1 36642420 36642420 T C rs475591 MAP7D1 Synonymous SNV S415S 0.545 0.547 0.524 207 640 210 0.531 154 168 64 40 50 0.062 1841 chr10 43976951 43976951 G A rs567970854 ZNF487 Nonsynonymous SNV V73I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.002 1842 chr10 45499009 45499009 A G rs3740093 ZNF22 Nonsynonymous SNV S65G 0.041 0.026 0.031 15 48 10 0.038 9 1 1 0 0 11.99 1843 chr10 50863147 50863147 T C rs8178992 CHAT Synonymous SNV H429H 0.888 0.867 0.881 357 1042 333 0.915 259 460 146 114 162 Benign 0.378 1844 chr1 36773405 36773405 T G rs35343437 SH3D21 Synonymous SNV P46P 0.393 0.37 0.357 145 461 142 0.372 105 89 32 17 24 0.697 1845 chr10 50901938 50901938 C T rs1133837 C10orf53 Synonymous SNV F72F 0.475 0.471 0.476 178 558 181 0.456 140 126 38 31 35 16.07 1846 chr10 50916484 50916484 A G rs1258236 C10orf53 Nonsynonymous SNV R99G 0.923 0.961 0.905 368 1084 369 0.944 266 499 177 120 173 7.996 1847 chr1 36807481 36807481 C T rs3795498 STK40 Nonsynonymous SNV A400T 0.219 0.221 0.201 75 257 85 0.192 59 25 18 6 5 23.5 1848 chr10 45499272 45499272 C G rs3740092 ZNF22 Synonymous SNV S152S 0.042 0.026 0.031 15 49 10 0.038 9 1 1 0 0 13.11 1849 chr10 46121845 46121845 G T ZFAND4 Nonsynonymous SNV R476S 0 0 0 0 0 0 0 0 0 0 0 0 18.87 1850 chr10 50916542 50916542 C T rs4838554 C10orf53 Nonsynonymous SNV T118I 0.52 0.547 0.517 196 611 210 0.503 152 152 52 41 43 1.409 1851 chr1 36927733 36927733 G A rs7065 MRPS15 Synonymous SNV P69P 0.937 0.956 0.956 363 1100 367 0.931 281 516 175 134 169 3.663 1852 chr10 44112245 44112245 G A rs12354886 ZNF485 Nonsynonymous SNV A161T 0.177 0.203 0.221 81 208 78 0.208 65 19 10 9 6 2.563 1853 chr1 38019747 38019747 C T rs2273013 SNIP1 Synonymous SNV V28V 0.212 0.227 0.187 81 249 87 0.208 55 23 7 6 4 9.718 1854 chr10 50950976 50950976 G A rs11101224 OGDHL Nonsynonymous SNV T428M 0.29 0.297 0.262 107 340 114 0.274 77 51 15 9 12 6.415 1855 chr10 45473317 45473317 C T rs3740094 DEPP1 Synonymous SNV L54L 0.201 0.18 0.218 83 236 69 0.213 64 20 7 10 8 5.773 1856 chr1 38148765 38148765 A G rs684260 C1orf109 Nonsynonymous SNV Y279H 0.721 0.727 0.748 271 846 279 0.695 220 306 99 83 96 6.367 1857 chr10 50960209 50960209 G A rs1258184 OGDHL Synonymous SNV L131L 0.42 0.43 0.398 172 493 165 0.441 117 105 32 23 29 12.67 1858 chr1 38184470 38184470 C G rs610213 EPHA10 Synonymous SNV A925A 0.15 0.128 0.116 55 176 49 0.141 34 10 3 1 6 14.33 1859 chr10 5136651 5136651 C G rs12529 AKR1C3 Nonsynonymous SNV H5Q 0.474 0.531 0.616 184 557 204 0.472 181 136 50 51 34 1.635 1860 chr1 29630455 29630455 C T rs2295061 PTPRU Synonymous SNV Y855Y 0.186 0.19 0.163 80 218 73 0.205 48 23 5 6 11 12.4 1861 chr1 38186189 38186189 C T rs6671088 EPHA10 Nonsynonymous SNV G749E 0.154 0.13 0.146 57 181 50 0.146 43 10 3 1 6 28.1 1862 chr10 46969312 46969312 G A rs55894256 LOC102724488, SYT15 Nonsynonymous SNV T50I 0.141 0.12 0.143 62 165 46 0.159 42 0 0 0 0 1.325 1863 chr10 5139685 5139685 G A rs12387 AKR1C3 Synonymous SNV K104K 0.847 0.883 0.895 324 994 339 0.831 263 417 149 118 131 4.331 1864 chr1 38187447 38187447 A G rs579908 EPHA10 Synonymous SNV H677H 0.265 0.292 0.269 104 311 112 0.267 79 44 15 7 16 0.009 1865 chr10 51568378 51568378 T G rs10761581 NCOA4 Nonsynonymous SNV F8V 0.488 0.536 0.517 212 573 206 0.544 152 141 51 41 53 0.082 1866 chr1 31188901 31188901 A G rs20566 MATN1 Synonymous SNV T354T 0.408 0.409 0.384 151 479 157 0.387 113 99 31 21 31 0.003 1867 chr1 38289383 38289383 T C rs12751325 MTF1 Synonymous SNV T390T 0.216 0.229 0.16 92 254 88 0.236 47 20 14 4 8 12.04 1868 chr10 5199934 5199934 G C rs1781935 AKR1C8P 0 0 0.622 0 0 0 0 183 0 0 52 0 2.217 1869 chr1 38338795 38338795 A G rs11488569 INPP5B Nonsynonymous SNV M501T 0.654 0.646 0.616 245 768 248 0.628 181 245 79 58 78 0.577 1870 chr10 46999453 46999453 G A rs3127681 GPRIN2 Synonymous SNV A191A 0.025 0.034 0.037 9 29 13 0.023 11 0 0 0 0 3.685 1871 chr10 52103707 52103707 A G rs10763354 SGMS1 Synonymous SNV N56N 0.58 0.643 0.575 213 681 247 0.546 169 198 80 50 57 1.415 1872 chr1 31346199 31346199 G A rs1539360 SDC3 Synonymous SNV G396G 0.1 0.096 0.116 52 117 37 0.133 34 6 0 3 3 13.7 1873 chr1 38353941 38353941 G T rs28580141 INPP5B Synonymous SNV I127I 0.028 0.018 0.034 6 33 7 0.015 10 0 0 0 0 0.573 1874 chr10 5242164 5242164 A G rs17306779 AKR1C4 Synonymous SNV V35V 0.213 0.174 0.218 95 250 67 0.244 64 20 6 6 8 0.551 1875 chr10 5247784 5247784 C G rs3829125 AKR1C4 Nonsynonymous SNV S145C 0.118 0.091 0.112 61 139 35 0.156 33 7 3 2 1 0.028 1876 chr1 38397369 38397369 C T rs35267671 INPP5B Nonsynonymous SNV G6S 0.535 0.547 0.531 216 628 210 0.554 156 164 55 41 62 11.36 1877 chr10 46999863 46999863 C G rs4445576 GPRIN2 Nonsynonymous SNV S328C 0.299 0.292 0.289 125 351 112 0.321 85 0 0 0 0 23.1 1878 chr1 31897643 31897643 G A rs2275437 SERINC2 Synonymous SNV A109A 0.102 0.063 0.078 32 120 24 0.082 23 8 1 1 1 5.901 1879 chr10 5255025 5255025 A G rs4880718 AKR1C4 Nonsynonymous SNV Q250R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 1880 chr1 38449910 38449910 T C rs11210870 SF3A3 Synonymous SNV E80E 0.325 0.318 0.381 137 382 122 0.351 112 60 17 20 26 4.499 1881 chr1 38463504 38463504 C T rs7366048 FHL3 Synonymous SNV P72P 0.447 0.43 0.456 167 525 165 0.428 134 115 35 28 40 14.15 1882 chr10 52573698 52573698 G A rs41274048 A1CF Synonymous SNV L414L 0.058 0.083 0.071 30 68 32 0.077 21 2 0 0 1 2.98 1883 chr1 39339449 39339449 C T rs12127091 GJA9-MYCBP 0.411 0.43 0.476 157 483 165 0.403 140 104 37 33 25 9.061 1884 chr10 5260682 5260682 C G rs17134592 AKR1C4 Nonsynonymous SNV L311V 0.118 0.091 0.109 61 139 35 0.156 32 7 3 2 1 0.003 1885 chr10 47087609 47087609 G A rs79871698 NPY4R, NPY4R2 Nonsynonymous SNV V276M 0.168 0.198 0.136 61 197 76 0.156 40 0 0 0 0 9.739 1886 chr1 39340282 39340282 C T rs880303 GJA9 Nonsynonymous SNV V497I 0.411 0.43 0.476 157 483 165 0.403 140 105 37 33 25 0.56 1887 chr10 54074757 54074757 A G rs2241529 DKK1 Synonymous SNV A106A 0.651 0.659 0.714 244 764 253 0.626 210 245 90 72 83 13.45 1888 chr10 5415954 5415954 A G rs10904481 UCN3 Nonsynonymous SNV R91G 0.428 0.469 0.432 152 502 180 0.39 127 103 36 26 26 0.003 1889 chr1 39352271 39352271 G T rs2147914 RHBDL2 Nonsynonymous SNV L353M 0.414 0.43 0.476 157 486 165 0.403 140 106 37 33 25 24 1890 chr10 5435918 5435918 G A rs7097775 TUBAL3 Synonymous SNV A261A 0.603 0.602 0.588 239 708 231 0.613 173 221 67 53 71 0.052 1891 chr10 5436260 5436260 A G rs7910290 TUBAL3 Synonymous SNV A147A 0.668 0.643 0.656 254 784 247 0.651 193 264 76 64 81 0.001 1892 chr1 39549983 39549983 G A rs3736890 MACF1 Synonymous SNV S31S 0.214 0.195 0.184 87 251 75 0.223 54 32 6 5 13 14.8 1893 chr10 5437365 5437365 A G rs11253156 TUBAL3 Synonymous SNV A67A 0.687 0.654 0.656 259 806 251 0.664 193 278 80 63 85 1.268 1894 chr10 54528266 54528266 G C rs930507 MBL2 Synonymous SNV L126L 0.793 0.805 0.714 307 931 309 0.787 210 372 126 75 119 Benign/Likely benign 6.706 1895 chr1 39748921 39748921 G A rs2275188 MACF1 Synonymous SNV Q257Q 0.663 0.682 0.673 290 778 262 0.744 198 260 86 71 109 6.289 1896 chr10 5495218 5495218 T C rs4567355 NET1 Synonymous SNV Y146Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.246 1897 chr10 48370747 48370747 C T rs35618062 ZNF488 Nonsynonymous SNV A72V 0.13 0.125 0.153 47 153 48 0.121 45 10 3 7 1 6.68 1898 chr1 39816612 39816612 G A rs41270817 MACF1 Synonymous SNV A1645A 0.02 0.018 0.017 4 24 7 0.01 5 0 0 0 0 13.31 1899 chr10 5558145 5558145 - C rs397783543 CALML3-AS1 0 0 0.568 0 0 0 0 167 0 0 51 0 1900 chr10 5558349 5558349 G A rs4072067 CALML3-AS1 0 0 0.816 0 0 0 0 240 0 0 97 0 5.812 1901 chr10 55955444 55955444 T G rs4935502 PCDH15 Nonsynonymous SNV D398A 0.191 0.151 0.16 72 224 58 0.185 47 23 6 8 7 Benign 24.2 1902 chr1 39914363 39914363 G C rs668556 MACF1 Nonsynonymous SNV S4670T 0.602 0.602 0.616 208 707 231 0.533 181 215 66 55 56 10.33 1903 chr10 49420008 49420008 T C rs1864345 FRMPD2 Nonsynonymous SNV K509E 0.18 0.164 0.18 75 211 63 0.192 53 30 1 4 7 10.02 1904 chr10 56423968 56423968 A C rs11004439 PCDH15 Nonsynonymous SNV S19A 0.301 0.279 0.32 111 353 107 0.285 94 63 19 18 17 Benign 3.064 1905 chr10 47087501 47087501 C T rs3824733 NPY4R, NPY4R2 Nonsynonymous SNV R240C 0.308 0.284 0.289 116 362 109 0.297 85 1 0 0 0 Benign 23.1 1906 chr1 32667609 32667609 C T rs1407134 CCDC28B Nonsynonymous SNV R25W 0.033 0.023 0.041 30 39 9 0.077 12 1 0 0 1 35 1907 chr1 40030823 40030823 C T rs12127094 PABPC4 Synonymous SNV Q400Q 0.075 0.083 0.068 47 88 32 0.121 20 4 1 2 1 11.75 1908 chr10 5781628 5781628 T G rs2254067 TASOR2 Nonsynonymous SNV C418G 0.824 0.836 0.789 308 967 321 0.79 232 396 132 89 125 0.001 1909 chr1 32829798 32829798 A G rs753709627 TSSK3 Nonsynonymous SNV M250V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.043 1910 chr1 40098328 40098328 T C rs784625 HEYL Nonsynonymous SNV H47R 0.974 0.979 0.98 382 1143 376 0.979 288 556 184 141 187 9.194 1911 chr10 5781969 5781969 A T rs2797486 TASOR2 Synonymous SNV T531T 0.824 0.833 0.789 308 967 320 0.79 232 396 132 88 125 0.001 1912 chr1 40149642 40149642 G T rs784634 HPCAL4 Synonymous SNV R115R 0.879 0.883 0.874 350 1032 339 0.897 257 452 148 111 157 9.975 1913 chr10 50025396 50025396 G A rs7097397 WDFY4 Nonsynonymous SNV R1816Q 0.44 0.5 0.459 193 517 192 0.495 135 101 48 36 48 15.03 1914 chr10 5784151 5784151 A G rs45575338 TASOR2 Nonsynonymous SNV I726V 0.156 0.174 0.16 62 183 67 0.159 47 12 2 1 7 0.101 1915 chr1 40363054 40363054 G C rs3134614 MYCL Nonsynonymous SNV T362S 0.876 0.867 0.847 339 1028 333 0.869 249 455 143 107 148 4.091 1916 chr1 33099637 33099637 A G rs704878 ZBTB8OS Synonymous SNV F58F 0.06 0.076 0.078 27 71 29 0.069 23 3 1 1 0 9.072 1917 chr10 5788608 5788608 G C rs2797491 TASOR2 Nonsynonymous SNV R994P 0.824 0.836 0.793 308 967 321 0.79 233 396 133 89 125 0.374 1918 chr1 40533266 40533266 T G rs11207440 CAP1 Nonsynonymous SNV C229G 1 1 0.922 389 1174 384 0.997 271 587 192 135 194 15.37 1919 chr10 5790420 5790420 T C rs2669142 TASOR2 Nonsynonymous SNV V1598A 0.987 0.987 0.98 386 1159 379 0.99 288 572 187 141 191 0.079 1920 chr1 33160644 33160644 T G rs3795424 SYNC Nonsynonymous SNV E352A 0.039 0.06 0.031 21 46 23 0.054 9 1 1 0 0 26.4 1921 chr1 40533287 40533287 T G rs6665926 CAP1 Nonsynonymous SNV C236G 1 1 0.966 389 1174 384 0.997 284 587 192 141 194 12.91 1922 chr10 5799613 5799613 A G rs2275774 TASOR2 Nonsynonymous SNV K2207R 0.153 0.167 0.156 62 180 64 0.159 46 11 2 1 7 0.984 1923 chr1 40533315 40533315 T G rs6665933 CAP1 Nonsynonymous SNV I245S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.05 1924 chr10 5804531 5804531 G A rs2797501 TASOR2 Nonsynonymous SNV S2323N 0.875 0.859 0.765 327 1027 330 0.838 225 450 142 97 138 8.985 1925 chr1 40533320 40533320 T G rs6665936 CAP1 Nonsynonymous SNV C247G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.088 1926 chr10 5808086 5808086 G A rs1129614 GDI2 Synonymous SNV T362T 0.159 0.172 0.156 62 187 66 0.159 46 12 1 1 7 0.293 1927 chr1 33161264 33161264 C T rs74519835 SYNC Synonymous SNV R145R 0.039 0.06 0.054 21 46 23 0.054 16 1 1 0 0 12.35 1928 chr10 58118630 58118630 T C rs2241666 ZWINT Nonsynonymous SNV R187G 0.664 0.669 0.616 253 780 257 0.649 181 259 82 56 84 0.911 1929 chr10 50315893 50315893 A G rs13088 VSTM4 Nonsynonymous SNV F68S 0.417 0.411 0.378 147 490 158 0.377 111 97 29 22 27 0.063 1930 chr1 40533326 40533326 T G rs6665937 CAP1 Nonsynonymous SNV Y249D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.69 1931 chr1 33161612 33161612 T G rs3806248 SYNC Synonymous SNV P29P 0.039 0.06 0.054 21 46 23 0.054 16 1 1 0 0 0.221 1932 chr10 5920121 5920121 T C rs1052420 ANKRD16 Nonsynonymous SNV Q353R 0.866 0.849 0.857 339 1017 326 0.869 252 441 137 108 148 13.31 1933 chr1 40533347 40533347 T G rs6665944 CAP1 Nonsynonymous SNV S256A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.97 1934 chr10 50339925 50339925 G A rs12765281 FAM170B Synonymous SNV D195D 0.248 0.279 0.248 98 291 107 0.251 73 35 11 10 14 0.048 1935 chr1 33235651 33235651 A G rs12730560 KIAA1522 Nonsynonymous SNV M232V 0.129 0.138 0.109 51 151 53 0.131 32 11 3 2 4 0.093 1936 chr10 5925971 5925971 C A rs631947 ANKRD16 Synonymous SNV G216G 0.897 0.888 0.884 347 1053 341 0.89 260 474 151 116 154 11.63 1937 chr10 50340304 50340304 C A rs17773851 FAM170B Nonsynonymous SNV R69L 0.248 0.279 0.248 98 291 107 0.251 73 35 11 10 14 16.02 1938 chr10 60145342 60145342 G C rs1937 TFAM Nonsynonymous SNV S12T 0.088 0.081 0.078 25 103 31 0.064 23 4 1 0 2 Benign 0.248 1939 chr1 40773123 40773123 G C rs2228567 COL9A2 Nonsynonymous SNV L335V 0.048 0.065 0.041 24 56 25 0.062 12 3 1 1 1 Benign/Likely benign 23.2 1940 chr1 33409693 33409693 G A rs194645 RNF19B Synonymous SNV G443G 0.277 0.286 0.282 108 325 110 0.277 83 41 16 14 10 13.01 1941 chr10 61005204 61005204 C T rs138490289 PHYHIPL Synonymous SNV V302V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 6.207 1942 chr1 40881041 40881041 C G rs209606 SMAP2 Synonymous SNV S193S 0.928 0.904 0.918 360 1089 347 0.923 270 507 156 123 166 13.99 1943 chr10 50341954 50341954 A G rs34110351 FAM170B Nonsynonymous SNV Y4H 0.248 0.279 0.248 98 291 107 0.251 73 35 11 10 14 0.001 1944 chr10 61005244 61005244 G C rs2452505 PHYHIPL Nonsynonymous SNV V316L 0.833 0.82 0.837 318 978 315 0.815 246 409 126 102 129 10.19 1945 chr1 40923019 40923019 G A rs2272994 ZFP69B Nonsynonymous SNV C115Y 0.227 0.25 0.286 117 266 96 0.3 84 30 12 9 20 7.038 1946 chr10 50531549 50531549 G T rs56206226 C10orf71 Nonsynonymous SNV R320L 0.095 0.068 0.071 41 111 26 0.105 21 3 0 2 0 0.003 1947 chr10 61552692 61552692 G T rs1053266 CCDC6 Nonsynonymous SNV P470T 0.52 0.542 0.425 184 610 208 0.472 125 167 52 25 42 23.3 1948 chr1 41285087 41285087 T C rs4660468 KCNQ4 Synonymous SNV A259A 0.722 0.721 0.721 280 848 277 0.718 212 304 100 80 104 Benign 9.975 1949 chr10 50109895 50109895 A C rs35423873 WDFY4 Nonsynonymous SNV T2525P 0.183 0.219 0.163 96 215 84 0.246 48 17 15 5 9 0.074 1950 chr1 41485902 41485902 C G rs3738368 SLFNL1 Nonsynonymous SNV R144T 0.288 0.307 0.238 124 338 118 0.318 70 53 21 8 23 8.616 1951 chr10 61552774 61552774 C T rs1053265 CCDC6 Synonymous SNV P442P 0.805 0.841 0.776 316 945 323 0.81 228 386 132 96 127 13.02 1952 chr10 47087371 47087371 G A rs1048156 NPY4R, NPY4R2 Synonymous SNV A196A 0.279 0.263 0.282 110 328 101 0.282 83 0 0 0 0 8.295 1953 chr10 61665886 61665886 C A rs1171830 CCDC6 Synonymous SNV V99V 0.468 0.516 0.395 176 550 198 0.451 116 127 51 18 46 12.25 1954 chr10 50531606 50531606 C A rs55780106 C10orf71 Nonsynonymous SNV A339E 0.095 0.068 0.071 41 111 26 0.105 21 3 0 2 0 10.29 1955 chr1 41494222 41494222 G T rs11578697 SLFNL1-AS1 0.462 0.487 0.412 197 542 187 0.505 121 131 49 26 52 0.034 1956 chr10 46999865 46999865 C G rs145616440 GPRIN2 Nonsynonymous SNV P329A 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 0.003 1957 chr10 61833723 61833723 T C rs144270555 ANK3 Nonsynonymous SNV K2306E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.1 1958 chr1 41848296 41848296 G A rs4359027 FOXO6 Nonsynonymous SNV A475T 0.503 0.516 0.51 210 591 198 0.538 150 151 57 43 61 13.18 1959 chr10 50531972 50531972 A C rs45554335 C10orf71 Nonsynonymous SNV D461A 0.095 0.068 0.071 41 111 26 0.105 21 3 0 2 0 4.367 1960 chr10 50121721 50121721 G A rs35986885 LRRC18 Synonymous SNV P160P 0.185 0.219 0.167 96 217 84 0.246 49 18 15 5 9 1.214 1961 chr10 61868716 61868716 C A rs3750800 ANK3 Synonymous SNV T149T 0.336 0.336 0.32 128 394 129 0.328 94 73 20 13 19 Likely benign 14.86 1962 chr1 34090679 34090679 T C rs16835683 CSMD2 Synonymous SNV Q1824Q 0.046 0.06 0.061 20 54 23 0.051 18 2 0 0 0 5.191 1963 chr10 50121760 50121760 G A rs41283291 LRRC18 Synonymous SNV H147H 0.184 0.221 0.167 98 216 85 0.251 49 17 16 5 10 0.03 1964 chr1 41976328 41976328 T C rs9439043 HIVEP3 Nonsynonymous SNV T2338A 0.992 0.995 0.99 387 1165 382 0.992 291 580 191 144 193 Benign 0.001 1965 chr10 61926398 61926398 A G rs10994234 ANK3 Synonymous SNV N838N 0.016 0.016 0.02 2 19 6 0.005 6 0 0 1 0 Likely benign 6.732 1966 chr10 62645873 62645873 A G rs2271128 RHOBTB1 Synonymous SNV S404S 0.02 0.026 0.017 7 24 10 0.018 5 0 0 0 0 9.691 1967 chr10 50122109 50122109 C T rs17772611 LRRC18 Nonsynonymous SNV R31H 0.185 0.219 0.167 96 217 84 0.246 49 18 15 5 9 34 1968 chr10 50732280 50732280 C T rs2228528 ERCC6 Nonsynonymous SNV G399D 0.185 0.167 0.129 73 217 64 0.187 38 22 3 2 5 Benign 0.01 1969 chr10 63170292 63170292 A G rs7083475 TMEM26 Synonymous SNV L299L 0.278 0.268 0.255 113 326 103 0.29 75 43 16 15 17 8.245 1970 chr10 50533237 50533237 G A rs12217617 C10orf71 Nonsynonymous SNV D883N 0.092 0.063 0.068 39 108 24 0.1 20 3 0 1 0 22.4 1971 chr1 41978566 41978566 T G rs2991344 HIVEP3 Nonsynonymous SNV D2109A 0.996 1 0.99 389 1169 384 0.997 291 584 192 145 194 2.123 1972 chr10 63422754 63422754 - GGGCCGACCCCGGCA rs11269470 CABCOCO1 G14_T15insPTPAG 0 0 0.997 0 0 0 0 293 0 0 146 0 1973 chr10 63520698 63520698 T C rs1992625 CABCOCO1 Synonymous SNV F163F 0.814 0.839 0.84 310 956 322 0.795 247 386 133 107 127 5.592 1974 chr10 4872930 4872930 G A rs61745201 AKR1E2 Nonsynonymous SNV D35N 0.043 0.031 0.017 13 51 12 0.033 5 0 0 0 0 Benign 21.7 1975 chr10 50740600 50740600 C T rs4253013 ERCC6 Synonymous SNV L137L 0.096 0.094 0.075 34 113 36 0.087 22 7 1 1 0 Benign 11.94 1976 chr1 41978825 41978825 C G rs2483689 HIVEP3 Nonsynonymous SNV A2023P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.743 1977 chr10 63958112 63958112 T C rs3125734 RTKN2 Nonsynonymous SNV H462R 0.635 0.68 0.602 231 746 261 0.592 177 234 96 50 63 1.352 1978 chr10 63977980 63977980 C T rs61850830 RTKN2 Nonsynonymous SNV A288T 0.11 0.13 0.146 45 129 50 0.115 43 9 10 5 0 25.5 1979 chr1 41979156 41979156 A G rs615177 HIVEP3 Synonymous SNV A1912A 0.568 0.568 0.619 225 667 218 0.577 182 198 64 56 66 Benign 0.124 1980 chr1 42046613 42046613 G T rs12132697 HIVEP3 Synonymous SNV R1286R 0.209 0.234 0.201 94 245 90 0.241 59 24 11 6 11 Benign 4.162 1981 chr10 63995983 63995983 C T rs3852448 RTKN2 Synonymous SNV V176V 0.862 0.849 0.844 304 1012 326 0.779 248 437 137 108 118 14.78 1982 chr10 49942050 49942050 A T rs139627588 WDFY4 Nonsynonymous SNV T553S 0.014 0.01 0.014 3 17 4 0.008 4 0 0 0 0 0.007 1983 chr10 64159333 64159333 G T rs3758490 ZNF365 Nonsynonymous SNV A337S 0.57 0.563 0.544 226 669 216 0.579 160 180 63 40 58 12.21 1984 chr1 42046812 42046812 C T rs2810565 HIVEP3 Synonymous SNV Q1219Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.048 1985 chr10 50667105 50667105 T C rs2228529 ERCC6 Nonsynonymous SNV Q1413R 0.271 0.234 0.289 107 318 90 0.274 85 43 11 15 15 Benign 0.062 1986 chr1 42048745 42048745 T C rs2810566 HIVEP3 Nonsynonymous SNV H575R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.004 1987 chr10 64415184 64415184 A G rs7076156 ZNF365 Nonsynonymous SNV T62A 0.723 0.729 0.721 284 849 280 0.728 212 312 103 78 97 0.945 1988 chr10 50678369 50678369 T C rs2228527 ERCC6 Nonsynonymous SNV R1213G 0.27 0.234 0.293 108 317 90 0.277 86 42 11 15 16 Benign 13.04 1989 chr1 42049032 42049032 G A rs2984694 HIVEP3 Synonymous SNV S479S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 1.077 1990 chr10 64573771 64573771 C T rs224083 EGR2 Synonymous SNV P209P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 12.93 1991 chr10 50872912 50872912 C T rs3793801 CHAT Synonymous SNV I571I 0.009 0.018 0.017 9 11 7 0.023 5 0 0 0 0 Benign 15.37 1992 chr10 50532588 50532588 C G rs10857469 C10orf71 Nonsynonymous SNV H666Q 0.156 0.143 0.146 66 183 55 0.169 43 16 6 3 7 2.647 1993 chr10 49658943 49658943 G T rs1867586 ARHGAP22 Nonsynonymous SNV T320K 0.074 0.099 0.048 26 87 38 0.067 14 4 3 0 0 0.18 1994 chr1 42049140 42049140 C G rs2475842 HIVEP3 Synonymous SNV L443L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 3.303 1995 chr10 64945364 64945364 G A rs3211105 JMJD1C Synonymous SNV D2044D 0.751 0.719 0.745 294 882 276 0.754 219 333 100 85 110 8.785 1996 chr10 50678717 50678717 T C rs2228526 ERCC6 Nonsynonymous SNV M1097V 0.27 0.234 0.289 108 317 90 0.277 85 42 11 15 16 Benign 0.002 1997 chr1 42050366 42050366 C T rs2146315 HIVEP3 Nonsynonymous SNV V35I 0.23 0.203 0.296 83 270 78 0.213 87 34 9 17 11 0.157 1998 chr10 64967445 64967445 A T rs1904294 JMJD1C Synonymous SNV R1109R 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.002 1999 chr10 48389083 48389083 T C rs144289912 RBP3 Nonsynonymous SNV I599V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Uncertain significance 0.204 2000 chr1 42619139 42619139 A G rs1047047 GUCA2B Synonymous SNV A6A 0.127 0.141 0.099 55 149 54 0.141 29 13 7 1 3 4.639 2001 chr10 64974537 64974537 A T rs10761725 JMJD1C Nonsynonymous SNV S245T 0.734 0.703 0.735 290 862 270 0.744 216 318 97 83 107 0.03 2002 chr1 42630364 42630364 G A rs2071499 GUCA2A Nonsynonymous SNV S7F 0.618 0.609 0.612 239 726 234 0.613 180 224 78 61 76 13.59 2003 chr10 50532812 50532812 A G rs11101093 C10orf71 Nonsynonymous SNV D741G 0.156 0.143 0.146 67 183 55 0.172 43 16 6 3 7 24.2 2004 chr10 50533463 50533463 T A rs10857470 C10orf71 Nonsynonymous SNV F958Y 0.156 0.143 0.146 66 183 55 0.169 43 16 6 3 7 0.025 2005 chr1 36235455 36235455 C T rs61751002 CLSPN Nonsynonymous SNV G6D 0.074 0.091 0.037 35 87 35 0.09 11 3 0 1 1 7.237 2006 chr1 42693597 42693597 A G rs343376 FOXJ3 Nonsynonymous SNV V162A 0.816 0.807 0.776 323 958 310 0.828 228 388 129 87 131 12.4 2007 chr10 65225131 65225131 A G rs2393979 JMJD1C-AS1 0 0 0.956 0 0 0 0 281 0 0 140 0 5.227 2008 chr10 50944529 50944529 G A rs12357255 OGDHL Synonymous SNV A667A 0.068 0.102 0.085 32 80 39 0.082 25 4 0 1 0 7.558 2009 chr10 65225244 65225244 G C rs1061259 JMJD1C-AS1 0.751 0.719 0.745 293 882 276 0.751 219 333 100 85 110 9.863 2010 chr10 65225245 65225245 A G rs10761770 JMJD1C-AS1 0.999 1 0.993 388 1173 384 0.995 292 586 192 145 193 12.16 2011 chr1 42898843 42898843 A G rs1034268 ZMYND12 Nonsynonymous SNV F206L 0.659 0.664 0.687 250 774 255 0.641 202 250 86 67 76 13.93 2012 chr10 50533841 50533841 G C rs11101094 C10orf71 Nonsynonymous SNV G1084A 0.156 0.141 0.146 66 183 54 0.169 43 16 6 3 7 0.002 2013 chr10 65225450 65225450 C T rs1054693 JMJD1C-AS1 0.281 0.245 0.265 108 330 94 0.277 78 47 7 13 14 13.77 2014 chr10 49984879 49984879 C T rs76547526 WDFY4 Nonsynonymous SNV P983L 0.011 0.005 0 0 13 2 0 0 0 0 0 0 Benign 1.689 2015 chr10 4872887 4872887 C A rs3750739 AKR1E2 Synonymous SNV T20T 0.046 0.06 0.014 12 54 23 0.031 4 2 0 0 0 12.73 2016 chr10 6527143 6527143 G A rs2236379 PRKCQ Nonsynonymous SNV P205L 0.293 0.281 0.279 99 344 108 0.254 82 51 9 13 8 Pathogenic 6.104 2017 chr10 50534350 50534350 G A rs11101095 C10orf71 Nonsynonymous SNV V1254I 0.153 0.138 0.146 66 180 53 0.169 43 16 6 3 7 0.003 2018 chr1 43201534 43201534 G A rs4660658 CLDN19 Nonsynonymous SNV R186C 0.197 0.177 0.18 88 231 68 0.226 53 20 5 2 9 Benign 4.817 2019 chr10 4872911 4872911 C T rs3750740 AKR1E2 Synonymous SNV D28D 0.046 0.06 0.014 12 54 23 0.031 4 2 0 0 0 9.86 2020 chr10 696237 696237 G A rs10904535 PRR26 Nonsynonymous SNV G63R 0.833 0.867 0.878 337 978 333 0.864 258 405 146 115 144 0.494 2021 chr10 50678317 50678317 C G rs4253211 ERCC6 Nonsynonymous SNV R1230P 0.09 0.073 0.054 39 106 28 0.1 16 6 0 1 1 Benign 11.48 2022 chr10 4875591 4875591 A G rs17133693 AKR1E2 Nonsynonymous SNV K86R 0.046 0.06 0.014 12 54 23 0.031 4 2 0 0 0 0.002 2023 chr10 5138747 5138747 A G rs11551177 AKR1C3 Nonsynonymous SNV E77G 0.083 0.057 0.065 24 98 22 0.062 19 4 1 1 0 23.3 2024 chr1 43201629 43201629 G A CLDN19 Nonsynonymous SNV S154F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.962 2025 chr10 69773931 69773931 A G rs35133402 HERC4 Synonymous SNV S52S 0.026 0.031 0.051 8 30 12 0.021 15 0 0 1 0 9.04 2026 chr10 4881935 4881935 A G rs2290349 AKR1E2 Synonymous SNV P199P 0.046 0.06 0.014 12 54 23 0.031 4 2 0 0 0 7.828 2027 chr10 50679111 50679111 G A rs745709338 ERCC6 Nonsynonymous SNV R994W 0.005 0 0 0 6 0 0 0 0 0 0 0 27.9 2028 chr1 43212431 43212431 A G rs4660662 P3H1 Synonymous SNV G716G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Likely benign 6.854 2029 chr10 69926097 69926097 T C rs2673794 MYPN Synonymous SNV S549S 0.621 0.609 0.595 244 729 234 0.626 175 227 69 55 79 Benign 0.453 2030 chr10 4884642 4884642 T C rs12573669 AKR1E2 Synonymous SNV N163N 0.046 0.06 0.014 12 54 23 0.031 4 2 0 0 0 0.014 2031 chr10 69926319 69926319 C A rs61854624 MYPN Synonymous SNV T623T 0.189 0.172 0.163 77 222 66 0.197 48 23 6 4 8 Benign 9.373 2032 chr1 36886117 36886117 C T rs2275477 OSCP1 Nonsynonymous SNV G307R 0.165 0.156 0.17 74 194 60 0.19 50 16 6 3 4 23.5 2033 chr1 43212869 43212869 A T rs3738496 P3H1 Nonsynonymous SNV F710Y 0.12 0.117 0.129 50 141 45 0.128 38 10 1 1 6 Benign 9.959 2034 chr10 5138607 5138607 G A rs7741 AKR1C3 Synonymous SNV P30P 0.291 0.297 0.214 118 342 114 0.303 63 43 14 4 15 8.995 2035 chr10 4884698 4884698 T G rs150640934 AKR1E2 0.012 0.003 0 0 14 1 0 0 2 0 0 0 0.006 2036 chr10 69926325 69926325 C T rs2673793 MYPN Synonymous SNV P625P 0.208 0.193 0.201 90 244 74 0.231 59 26 6 7 10 Benign 10.93 2037 chr1 36898067 36898067 T C rs34409118 OSCP1 Nonsynonymous SNV T131A 0.164 0.159 0.16 74 192 61 0.19 47 16 6 3 4 0.203 2038 chr10 69926334 69926334 C G rs10823148 MYPN Nonsynonymous SNV F628L 0.413 0.417 0.395 153 485 160 0.392 116 96 26 24 33 Benign 9.186 2039 chr1 43394666 43394666 G A rs2229681 SLC2A1 Synonymous SNV H337H 0.005 0.003 0.003 1 6 1 0.003 1 1 0 0 0 Benign 8.089 2040 chr10 50183042 50183042 G A rs61733240 WDFY4 Nonsynonymous SNV A3022T 0.067 0.102 0.088 30 79 39 0.077 26 1 5 2 0 9.022 2041 chr1 43618596 43618596 G A rs12074551 FAM183A Synonymous SNV E97E 0.274 0.292 0.262 112 322 112 0.287 77 44 17 10 16 5.225 2042 chr10 50374930 50374930 C T rs45563932 TMEM273 Synonymous SNV T74T 0.175 0.19 0.167 63 206 73 0.162 49 24 5 7 7 12.24 2043 chr10 69933921 69933921 G A rs10997975 MYPN Nonsynonymous SNV S691N 0.394 0.404 0.395 144 462 155 0.369 116 89 27 23 30 Benign 8.543 2044 chr1 43632536 43632536 C T rs7163 EBNA1BP2 Nonsynonymous SNV R223H 0.274 0.289 0.262 114 322 111 0.292 77 44 18 10 17 10.82 2045 chr10 49929331 49929331 G A rs11818741 WDFY4 Synonymous SNV Q125Q 0.079 0.065 0.068 30 93 25 0.077 20 5 0 1 3 0.403 2046 chr1 36937059 36937059 A G rs3917981 CSF3R Synonymous SNV T420T 0.56 0.578 0.68 226 658 222 0.579 200 182 63 65 62 Benign 0.046 2047 chr10 69933969 69933969 G A rs7916821 MYPN Nonsynonymous SNV S707N 0.393 0.404 0.395 143 461 155 0.367 116 89 27 23 30 Benign 15.48 2048 chr1 43636484 43636484 C G rs1049276 EBNA1BP2 Synonymous SNV T130T 0.274 0.289 0.262 114 322 111 0.292 77 44 18 10 17 9.377 2049 chr1 36938235 36938235 G A rs3918017 CSF3R Synonymous SNV A242A 0.02 0.042 0.024 11 24 16 0.028 7 0 0 0 1 Benign 0.916 2050 chr10 69934258 69934258 C G rs3814182 MYPN Nonsynonymous SNV S803R 0.478 0.497 0.49 167 561 191 0.428 144 134 44 34 38 Benign 16.4 2051 chr1 43638457 43638457 T A rs1782387 CFAP57 Synonymous SNV V11V 0.274 0.289 0.255 114 322 111 0.292 75 44 18 10 17 10.71 2052 chr1 37948912 37948912 C T rs41267299 ZC3H12A Synonymous SNV A500A 0.115 0.094 0.129 29 135 36 0.074 38 4 2 2 1 15.61 2053 chr1 43647424 43647424 C T rs138300205 CFAP57 Nonsynonymous SNV T126M 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 28.8 2054 chr1 38023316 38023316 C T rs11749 DNALI1 Nonsynonymous SNV A65V 0.318 0.315 0.32 115 373 121 0.295 94 61 13 16 13 25 2055 chr10 69934259 69934259 G A rs62620248 MYPN Nonsynonymous SNV G804R 0.023 0.021 0.014 12 27 8 0.031 4 0 0 1 0 Benign 21.7 2056 chr10 50019740 50019740 T C rs114590878 WDFY4 Nonsynonymous SNV M1734T 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.001 2057 chr10 69948844 69948844 T C rs10733838 MYPN Synonymous SNV V962V 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 Benign 4.892 2058 chr1 43649336 43649336 T C rs75528102 CFAP57 Synonymous SNV A183A 0.053 0.057 0.054 22 62 22 0.056 16 1 2 2 0 0.192 2059 chr10 69959242 69959242 C A rs7079481 MYPN Nonsynonymous SNV P1135T 0.395 0.401 0.398 149 464 154 0.382 117 90 28 25 32 Benign 31 2060 chr1 43649393 43649393 T C rs663336 CFAP57 Synonymous SNV A202A 0.071 0.076 0.078 25 83 29 0.064 23 4 3 2 0 0.176 2061 chr10 53458047 53458047 A G rs3740228 CSTF2T Synonymous SNV R421R 0.105 0.091 0.085 43 123 35 0.11 25 8 3 2 0 0.291 2062 chr1 43649508 43649508 A G rs663824 CFAP57 Nonsynonymous SNV N241D 0.454 0.466 0.401 176 533 179 0.451 118 125 43 26 39 0.001 2063 chr10 70044031 70044031 T C rs4142048 PBLD Nonsynonymous SNV H257R 0.155 0.138 0.17 81 182 53 0.208 50 16 6 3 5 0.001 2064 chr10 53458167 53458167 C T rs3824686 CSTF2T Synonymous SNV R381R 0.05 0.06 0.044 20 59 23 0.051 13 0 3 1 0 11.65 2065 chr10 55892642 55892642 T C rs61731389 PCDH15 Nonsynonymous SNV N600S 0.075 0.057 0.068 25 88 22 0.064 20 2 0 1 0 Conflicting interpretations of pathogenicity 21.5 2066 chr10 49933974 49933974 T C rs7072606 WDFY4 Nonsynonymous SNV S214P 0.118 0.122 0.112 44 138 47 0.113 33 8 1 3 2 0.103 2067 chr1 43652442 43652442 G C rs11210805 CFAP57 Nonsynonymous SNV C345S 0.05 0.057 0.054 22 59 22 0.056 16 1 2 2 0 23 2068 chr10 53458998 53458998 A G rs2292828 CSTF2T Synonymous SNV L104L 0.123 0.115 0.102 48 144 44 0.123 30 10 4 4 1 0.732 2069 chr10 70051928 70051928 A G rs10823171 PBLD Synonymous SNV D117D 0.836 0.849 0.837 317 982 326 0.813 246 414 139 104 127 0.424 2070 chr10 5773034 5773034 A G rs45584541 TASOR2 Nonsynonymous SNV M358V 0.057 0.039 0.041 18 67 15 0.046 12 1 0 1 0 0.001 2071 chr10 70105560 70105560 G A rs1162753 RUFY2 Synonymous SNV L596L 0.871 0.904 0.898 331 1023 347 0.849 264 449 156 119 140 10.55 2072 chr10 50105597 50105597 G A rs114867285 WDFY4 Nonsynonymous SNV R2472Q 0.012 0 0.007 1 14 0 0.003 2 0 0 0 0 23 2073 chr1 38227048 38227048 C T rs756796904 EPHA10 Synonymous SNV V293V 0 0.005 0 5 0 2 0.013 0 0 0 0 0 12.21 2074 chr1 43664218 43664218 C T rs603123 CFAP57 Synonymous SNV H443H 0.329 0.339 0.269 130 386 130 0.333 79 64 23 15 23 12 2075 chr10 70332580 70332580 A G rs10823229 TET1 Nonsynonymous SNV D162G 0.418 0.419 0.463 175 491 161 0.449 136 109 30 34 35 13.21 2076 chr1 43675467 43675467 G A rs2453412 CFAP57 Synonymous SNV S603S 0.864 0.844 0.905 337 1014 324 0.864 266 440 139 121 146 9.757 2077 chr10 70405855 70405855 A G rs3998860 TET1 Nonsynonymous SNV I1123M 0.848 0.857 0.878 330 996 329 0.846 258 423 141 114 140 0.01 2078 chr1 43748763 43748763 G A rs35465732 C1orf210 Nonsynonymous SNV S12L 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 21.4 2079 chr10 70502288 70502288 G A rs1300253 CCAR1 Synonymous SNV T145T 0.836 0.826 0.84 329 981 317 0.844 247 403 132 105 140 14.43 2080 chr1 43779564 43779564 T C rs3120276 TIE1 Synonymous SNV A733A 0.635 0.641 0.616 233 745 246 0.597 181 235 74 57 67 0.134 2081 chr10 70641860 70641860 T C rs1341667 STOX1 Nonsynonymous SNV Y153H 0.58 0.539 0.605 238 681 207 0.61 178 194 61 57 75 risk factor 23.4 2082 chr10 50121785 50121785 G A rs11101561 LRRC18 Nonsynonymous SNV T139I 0.032 0.023 0.037 7 38 9 0.018 11 1 1 2 0 25.8 2083 chr1 43784956 43784956 A G rs1199039 TIE1 Synonymous SNV L946L 0.374 0.354 0.388 156 439 136 0.4 114 82 21 23 29 9.588 2084 chr10 70700944 70700944 A G rs5030900 DDX50 Synonymous SNV G628G 0.585 0.542 0.602 240 687 208 0.615 177 196 62 57 76 8.937 2085 chr1 43825644 43825644 T C rs839763 CDC20 Synonymous SNV Y144Y 0.363 0.349 0.384 150 426 134 0.385 113 77 22 22 26 0.023 2086 chr10 70748784 70748784 G A rs2255607 KIFBP Nonsynonymous SNV G66S 0.411 0.406 0.429 190 482 156 0.487 126 92 34 31 45 Benign 0.255 2087 chr10 50121964 50121964 G A rs60751127 LRRC18 Synonymous SNV D79D 0.028 0.021 0.031 6 33 8 0.015 9 1 1 1 0 6.869 2088 chr10 50040722 50040722 C A rs12761517 WDFY4 Synonymous SNV R2211R 0.175 0.211 0.16 82 205 81 0.21 47 12 15 6 7 21.4 2089 chr1 43886494 43886494 C T rs2782643 SZT2 Nonsynonymous SNV P446S 0.402 0.378 0.449 172 472 145 0.441 132 94 29 29 35 Benign 23 2090 chr10 5541181 5541181 T C rs10904516 CALML5 Nonsynonymous SNV K74R 0.302 0.349 0.265 108 355 134 0.277 78 66 23 11 19 0.001 2091 chr10 5436073 5436073 G A rs34080891 TUBAL3 Nonsynonymous SNV R210W 0.067 0.076 0.061 22 79 29 0.056 18 0 3 1 0 26.2 2092 chr10 70856852 70856852 G A rs2229498 SRGN Nonsynonymous SNV R31Q 0.859 0.88 0.867 331 1008 338 0.849 255 439 150 114 139 10.45 2093 chr1 43890811 43890811 G A rs143992266 SZT2 Nonsynonymous SNV E860K 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Benign 10.36 2094 chr1 39340607 39340607 A G rs16825625 GJA9 Synonymous SNV R388R 0.134 0.151 0.126 41 157 58 0.105 37 11 3 5 2 2.27 2095 chr1 39340862 39340862 A G rs874243 GJA9 Synonymous SNV S303S 0.204 0.154 0.163 62 239 59 0.159 48 23 4 5 2 3.452 2096 chr10 5541183 5541183 C T rs10904517 CALML5 Synonymous SNV A73A 0.302 0.349 0.265 108 355 134 0.277 78 66 23 11 19 12.72 2097 chr1 43892189 43892189 G A rs2782646 SZT2 Nonsynonymous SNV R1065Q 0.403 0.38 0.452 172 473 146 0.441 133 94 29 30 35 7.792 2098 chr10 70992664 70992664 C T rs874556 HKDC1 Nonsynonymous SNV T124I 0.374 0.359 0.357 148 439 138 0.379 105 85 25 19 23 9.591 2099 chr10 5541230 5541230 T C rs11546426 CALML5 Nonsynonymous SNV S58G 0.277 0.313 0.252 102 325 120 0.262 74 54 20 10 16 0.547 2100 chr1 43906896 43906896 A G rs2027130 SZT2 Synonymous SNV E2395E 0.404 0.385 0.446 172 474 148 0.441 131 95 30 28 35 Benign 9.192 2101 chr10 71018660 71018660 T C rs1111335 HKDC1 Nonsynonymous SNV W721R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.384 2102 chr1 43917637 43917637 G A rs2251802 HYI Synonymous SNV D158D 0.404 0.385 0.452 172 474 148 0.441 133 95 30 30 35 8.913 2103 chr1 39835817 39835817 A G rs2296172 MACF1 Nonsynonymous SNV M2290V 0.243 0.227 0.194 64 285 87 0.164 57 35 7 8 6 9.012 2104 chr10 55755491 55755491 C T rs2135720 PCDH15 Nonsynonymous SNV R858Q 0.21 0.208 0.167 86 246 80 0.221 49 25 10 1 6 Benign 13.16 2105 chr10 71026510 71026510 C A rs906219 HKDC1 Nonsynonymous SNV N917K 0.418 0.411 0.425 160 491 158 0.41 125 99 32 29 33 14.21 2106 chr10 55955485 55955485 A G rs7921598 PCDH15 Synonymous SNV T384T 0.149 0.167 0.163 70 175 64 0.179 48 13 6 2 6 Benign 1.069 2107 chr1 43919413 43919413 A G rs6692611 HYI Nonsynonymous SNV S18P 0.53 0.505 0.48 220 622 194 0.564 141 225 69 50 76 0.174 2108 chr10 6002368 6002368 T G rs2228059 IL15RA Nonsynonymous SNV N113T 0.468 0.49 0.463 175 550 188 0.449 136 135 44 29 36 0.002 2109 chr1 39908506 39908506 G A rs587404 MACF1 Nonsynonymous SNV A4350T 0.335 0.313 0.316 98 393 120 0.251 93 68 15 18 14 14.38 2110 chr10 55955610 55955610 C T rs10825269 PCDH15 Nonsynonymous SNV G343S 0.151 0.167 0.163 70 177 64 0.179 48 13 6 2 6 Benign 18.26 2111 chr10 71052083 71052083 C T rs4746836 HK1 Nonsynonymous SNV P33S 0.527 0.544 0.49 194 619 209 0.497 144 155 55 36 46 1.434 2112 chr1 44071221 44071221 G A rs631248 PTPRF Synonymous SNV V833V 0.697 0.714 0.752 280 818 274 0.718 221 282 100 83 100 10.84 2113 chr10 71060610 71060610 A G rs906220 HK1 Nonsynonymous SNV H7R 0.922 0.919 0.895 367 1083 353 0.941 263 504 168 118 174 1.781 2114 chr10 50947825 50947825 A G rs143105288 OGDHL Nonsynonymous SNV F525S 0.01 0 0.007 3 12 0 0.008 2 0 0 0 0 Likely benign 32 2115 chr1 44072066 44072066 C T rs10890266 PTPRF Synonymous SNV P909P 0.29 0.333 0.378 116 340 128 0.297 111 45 17 20 14 17.52 2116 chr10 60577393 60577393 T C rs4344442 BICC1 Synonymous SNV L869L 0.681 0.68 0.653 254 800 261 0.651 192 270 90 65 85 1.25 2117 chr10 71103597 71103597 C G rs1133189 HK1 Synonymous SNV L26L 0.293 0.315 0.269 120 344 121 0.308 79 52 22 13 19 Benign 13.19 2118 chr1 44083507 44083507 T C rs641365 PTPRF Synonymous SNV G1128G 0.693 0.711 0.738 280 814 273 0.718 217 277 96 82 102 6.077 2119 chr10 71142420 71142420 G A rs748235 HK1 Synonymous SNV K449K 0.783 0.779 0.755 319 919 299 0.818 222 360 115 83 128 Benign 12.08 2120 chr10 60588553 60588553 T C rs4948550 BICC1 Nonsynonymous SNV S943P 0.664 0.664 0.639 244 779 255 0.626 188 255 87 64 80 11.58 2121 chr1 44083519 44083519 G A rs641351 PTPRF Synonymous SNV R1132R 0.693 0.711 0.738 280 814 273 0.718 217 277 96 82 102 12.07 2122 chr10 50171949 50171949 C T rs41283297 WDFY4 Synonymous SNV Y2762Y 0.022 0.026 0.041 9 26 10 0.023 12 0 0 1 0 11.11 2123 chr10 71168685 71168685 A T rs55953810 TACR2 Nonsynonymous SNV M245K 0.999 1 0.963 389 1173 384 0.997 283 586 192 141 194 12.52 2124 chr1 44084739 44084739 C T rs1143701 PTPRF Synonymous SNV R1200R 0.693 0.711 0.741 280 813 273 0.718 218 278 97 82 102 15.41 2125 chr10 71332204 71332204 A G rs4536103 NEUROG3 Nonsynonymous SNV F199S 0.577 0.518 0.554 249 677 199 0.638 163 188 51 43 78 Benign 2.009 2126 chr10 5789967 5789975 CTGCCTCAG - rs3082216 TASOR2 S1449_A1451del 0.013 0.023 0.02 8 15 9 0.021 6 0 0 0 0 2127 chr1 44086831 44086831 C T rs1143702 PTPRF Synonymous SNV Y1557Y 0.598 0.615 0.656 249 702 236 0.638 193 208 72 64 78 11.47 2128 chr10 71392557 71392557 C T rs12020 FAM241B Synonymous SNV N36N 0.62 0.651 0.493 245 728 250 0.628 145 223 81 45 84 8.242 2129 chr10 71392692 71392692 T C rs1052152 FAM241B Synonymous SNV L81L 0.62 0.654 0.592 244 728 251 0.626 174 223 81 48 83 0.037 2130 chr1 44137257 44137257 C A rs586339 KDM4A Nonsynonymous SNV A482E 0.656 0.667 0.718 258 770 256 0.662 211 244 82 78 88 13.86 2131 chr10 50532155 50532155 T G rs61453891 C10orf71 Nonsynonymous SNV V522G 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.007 2132 chr10 71562437 71562437 G A rs10998973 COL13A1 Synonymous SNV T86T 0.572 0.563 0.605 220 671 216 0.564 178 195 57 60 66 17.38 2133 chr10 5790616 5790616 A G rs2797492 TASOR2 Synonymous SNV L1663L 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 2.621 2134 chr10 71657272 71657272 A G rs1227746 COL13A1 Synonymous SNV Q204Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.018 2135 chr1 44290530 44290530 A G rs37458 ST3GAL3 Nonsynonymous SNV T97A 0.298 0.299 0.361 130 350 115 0.333 106 74 24 21 27 Benign 0.001 2136 chr10 71658512 71658512 G A rs1227747 COL13A1 Synonymous SNV T201T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.95 2137 chr10 5827901 5827901 T C rs17403348 GDI2 Synonymous SNV T122T 0.032 0.034 0.068 15 38 13 0.038 20 0 0 0 0 0.116 2138 chr10 71678058 71678058 C G rs2274181 COL13A1 Synonymous SNV A281A 0.216 0.219 0.228 80 253 84 0.205 67 27 14 10 11 13.93 2139 chr10 61832626 61832626 G A rs41274674 ANK3 Synonymous SNV S2671S 0.026 0.026 0.024 9 30 10 0.023 7 1 0 0 0 Likely benign 4.534 2140 chr10 71874048 71874048 G A rs1053495 AIFM2 Synonymous SNV D336D 0.141 0.143 0.112 44 165 55 0.113 33 14 3 2 0 10.73 2141 chr1 44387228 44387228 T G rs1636876 ST3GAL3 Synonymous SNV V399V 0.925 0.93 0 361 1086 357 0.926 0 503 165 0 167 3.949 2142 chr10 71905695 71905695 A G rs10999158 TYSND1 Synonymous SNV G216G 0.365 0.362 0.371 145 429 139 0.372 109 85 23 20 26 0.11 2143 chr1 44401384 44401384 A G rs2242637 ARTN Nonsynonymous SNV Q19R 0.929 0.924 0.912 357 1091 355 0.915 268 507 164 122 163 0.176 2144 chr10 72015573 72015573 T G rs3812694 NPFFR1 Nonsynonymous SNV I145L 0.119 0.099 0.088 46 140 38 0.118 26 9 4 1 2 28 2145 chr10 58120988 58120988 C A rs11005328 ZWINT Nonsynonymous SNV A4S 0.019 0.026 0.017 9 22 10 0.023 5 0 0 0 0 16.37 2146 chr1 44415415 44415415 C T rs2240447 IPO13 Synonymous SNV D137D 0.719 0.719 0.748 260 844 276 0.667 220 298 98 87 87 11.08 2147 chr10 63964653 63964653 C T rs41274060 RTKN2 Synonymous SNV K383K 0.172 0.13 0.17 52 202 50 0.133 50 17 2 3 5 16.38 2148 chr10 63976913 63976918 AGCTTC - rs149331212 RTKN2 E327_A328del 0.17 0.13 0.153 53 200 50 0.136 45 17 2 3 5 2149 chr1 44468235 44468235 G A rs2248829 SLC6A9 Synonymous SNV D204D 0.06 0.083 0.085 28 70 32 0.072 25 1 1 2 0 8.942 2150 chr10 72179746 72179746 C T rs1043098 EIF4EBP2 Synonymous SNV H74H 0.483 0.466 0.429 181 567 179 0.464 126 132 45 23 36 14.16 2151 chr10 54531264 54531264 G A rs34120190 MBL2 Synonymous SNV N44N 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.904 2152 chr10 50952101 50952101 C G rs36032010 OGDHL Nonsynonymous SNV M391I 0.032 0.026 0.017 8 38 10 0.021 5 0 0 0 0 12.3 2153 chr10 72195439 72195439 T C rs1904589 NODAL Nonsynonymous SNV H32R 0.542 0.521 0.497 207 636 200 0.531 146 163 54 33 52 Benign 0.003 2154 chr1 44603506 44603506 C T rs2429060 KLF18 Nonsynonymous SNV R1049H 0.294 0.294 0 126 345 113 0.323 0 52 17 0 15 0.414 2155 chr1 44604720 44604720 - CTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC rs368966417 KLF18 Q861_N862insALYGGQNMMTSTGNQ 0.645 0.646 0 253 757 248 0.649 0 241 79 0 80 2156 chr1 44605006 44605006 G A rs2485649 KLF18 Synonymous SNV Y766Y 0.268 0.263 0 119 315 101 0.305 0 42 15 0 12 0.172 2157 chr10 54531235 54531235 C T rs1800450 MBL2 Nonsynonymous SNV G54D 0.156 0.133 0.16 59 183 51 0.151 47 11 1 5 4 28.9 2158 chr10 72289778 72289778 C T rs2275060 PALD1 Nonsynonymous SNV S141L 0.095 0.081 0.109 27 111 31 0.069 32 4 2 3 1 9.484 2159 chr1 44606254 44606254 C T rs2429057 KLF18 Nonsynonymous SNV M350I 0.552 0.536 0 220 648 206 0.564 0 187 61 0 63 1.32 2160 chr1 40703244 40703244 G A rs35042446 RLF Nonsynonymous SNV G957D 0.049 0.047 0.024 21 58 18 0.054 7 1 1 0 0 24 2161 chr1 44606565 44606565 A G rs2022028 KLF18 Nonsynonymous SNV F247L 0.591 0.583 0 240 694 224 0.615 0 200 68 0 70 3.073 2162 chr10 72324143 72324143 A G rs7093516 PALD1 Synonymous SNV Q762Q 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 3.341 2163 chr1 45292866 45292866 G A rs2295996 PTCH2 Synonymous SNV D829D 0.155 0.167 0.17 47 182 64 0.121 50 8 5 3 1 3.71 2164 chr10 61414176 61414176 G A rs56370926 SLC16A9 Nonsynonymous SNV A116V 0.06 0.065 0.071 20 70 25 0.051 21 1 2 0 1 1.23 2165 chr1 45293518 45293518 A G rs7525308 PTCH2 Synonymous SNV A685A 0.29 0.294 0.296 114 340 113 0.292 87 45 17 14 13 0.231 2166 chr10 72358577 72358577 G A rs885822 PRF1 Synonymous SNV H300H 0.6 0.602 0.592 226 704 231 0.579 174 212 74 56 66 Benign 0.006 2167 chr10 6002518 6002518 G A rs77226427 IL15RA Nonsynonymous SNV S63L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.95 2168 chr10 64564892 64564892 G T rs2236295 ADO Nonsynonymous SNV G25W 0.317 0.333 0.289 139 372 128 0.356 85 69 25 15 24 28.8 2169 chr10 72358655 72358655 G A rs885821 PRF1 Synonymous SNV A274A 0.121 0.159 0.119 68 142 61 0.174 35 8 4 1 7 Benign 6.059 2170 chr1 45308586 45308586 G A rs1030456781 PTCH2 Nonsynonymous SNV L7F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.45 2171 chr10 72358782 72358782 C T rs747380397 PRF1 Nonsynonymous SNV R232H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 29 2172 chr1 40928145 40928145 G A rs61740805 ZFP69B Synonymous SNV S163S 0.042 0.036 0.031 14 49 14 0.036 9 1 0 0 0 4.639 2173 chr10 55566406 55566406 T G rs17704703 PCDH15 Nonsynonymous SNV Q1654P 0.245 0.273 0.276 92 288 105 0.236 81 30 15 14 14 Benign 20.9 2174 chr10 6008172 6008172 C T rs2296139 IL15RA Synonymous SNV T37T 0.138 0.141 0.187 69 162 54 0.177 55 17 0 9 9 10.86 2175 chr1 45504720 45504720 G C rs7551698 ZSWIM5 Synonymous SNV T594T 0.662 0.706 0.65 268 777 271 0.687 191 259 96 63 95 9.686 2176 chr10 64564934 64564934 C G rs10995311 ADO Nonsynonymous SNV P39A 0.394 0.438 0.354 168 462 168 0.431 104 94 38 20 32 6.712 2177 chr1 40960619 40960619 G A rs41301076 ZFP69 Nonsynonymous SNV E158K 0.045 0.034 0.054 23 53 13 0.059 16 2 0 1 2 0.186 2178 chr10 72360387 72360387 G A rs35947132 PRF1 Nonsynonymous SNV A91V 0.053 0.047 0.075 19 62 18 0.049 22 0 1 4 0 Conflicting interpretations of pathogenicity 26 2179 chr1 45973928 45973928 G A rs2275276 MMACHC Synonymous SNV V50V 0.525 0.505 0.473 192 616 194 0.492 139 154 51 35 53 Benign 2.846 2180 chr10 55568972 55568972 T G rs11003863 PCDH15 Nonsynonymous SNV E1611A 0.135 0.135 0.139 77 159 52 0.197 41 10 3 4 6 Benign 23.3 2181 chr1 40980668 40980668 T C rs35672330 EXO5 Nonsynonymous SNV L151P 0.038 0.034 0.027 11 45 13 0.028 8 2 0 0 0 22.8 2182 chr1 46073489 46073489 G A rs2230657 NASP Synonymous SNV P238P 0.532 0.51 0.486 196 624 196 0.503 143 159 51 37 51 0.029 2183 chr10 72500763 72500763 T C rs10823607 ADAMTS14 Nonsynonymous SNV L590P 0.826 0.815 0.82 329 970 313 0.844 241 398 127 102 138 9.485 2184 chr10 6472891 6472891 G T rs11258747 PRKCQ Synonymous SNV R553R 0.176 0.185 0.139 79 207 71 0.203 41 22 5 2 8 12.39 2185 chr1 46078854 46078854 A G rs2230658 NASP Synonymous SNV S416S 0.721 0.682 0.704 275 846 262 0.705 207 301 91 78 95 10.39 2186 chr10 72500863 72500863 C G rs10999500 ADAMTS14 Synonymous SNV S623S 0.569 0.565 0.588 253 668 217 0.649 173 186 62 52 83 13.64 2187 chr1 40980731 40980731 G T rs11208299 EXO5 Nonsynonymous SNV G172V 0.392 0.435 0.459 164 460 167 0.421 135 87 34 31 35 12.58 2188 chr1 46078884 46078884 C T rs2230659 NASP Synonymous SNV T426T 0.721 0.682 0.701 274 847 262 0.703 206 301 91 79 95 18.2 2189 chr10 64927823 64927823 C G rs1935 JMJD1C Nonsynonymous SNV E2316D 0.461 0.464 0.446 186 541 178 0.477 131 132 40 33 43 16.64 2190 chr10 72513682 72513682 C T rs2587475 ADAMTS14 Synonymous SNV C952C 0.614 0.612 0.493 217 721 235 0.556 145 222 72 45 60 10.76 2191 chr10 72517837 72517837 C T rs6480463 ADAMTS14 Synonymous SNV P1019P 0.568 0.542 0.558 209 667 208 0.536 164 184 57 39 52 17.6 2192 chr1 46086077 46086077 C T rs3014246 CCDC17 Nonsynonymous SNV S580N 0.721 0.68 0.714 276 846 261 0.708 210 299 90 79 95 0.573 2193 chr1 41012847 41012847 A G rs41268081 ZNF684 Synonymous SNV S284S 0.046 0.034 0.061 24 54 13 0.062 18 2 0 1 2 11.32 2194 chr10 72520330 72520330 A G rs10823615 ADAMTS14 Synonymous SNV A1131A 0.397 0.349 0.412 130 466 134 0.333 121 84 20 25 24 2.798 2195 chr10 61011325 61011325 C T rs12268908 FAM13C Synonymous SNV S547S 0.031 0.029 0.041 20 36 11 0.051 12 2 0 0 0 9.803 2196 chr1 41204569 41204569 C T rs1057925 NFYC Synonymous SNV S18S 0.621 0.635 0.633 238 729 244 0.61 186 226 78 60 72 15.39 2197 chr10 72520567 72520567 A G rs10823616 ADAMTS14 Synonymous SNV R1210R 0.262 0.214 0.276 89 308 82 0.228 81 43 8 7 8 0.972 2198 chr10 54531242 54531242 G A rs5030737 MBL2 Nonsynonymous SNV R52C 0.044 0.057 0.058 13 52 22 0.033 17 2 1 2 1 33 2199 chr1 46087577 46087577 G A rs3014242 CCDC17 Nonsynonymous SNV P353L 0.722 0.682 0.714 276 848 262 0.708 210 301 91 79 95 9.985 2200 chr10 72535007 72535007 C T rs2254174 TBATA Nonsynonymous SNV R238Q 0.87 0.865 0.871 347 1021 332 0.89 256 446 143 110 155 18.26 2201 chr1 46397941 46397941 A G rs6669522 MAST2 Nonsynonymous SNV K5E 0.49 0.477 0 182 575 183 0.467 0 133 43 0 50 0.255 2202 chr10 63983020 63983020 T C rs148771454 RTKN2 Nonsynonymous SNV H253R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.3 2203 chr10 72619205 72619205 C T rs827255 SGPL1 Synonymous SNV I188I 0.998 1 0.997 389 1172 384 0.997 293 586 192 146 194 19.53 2204 chr10 5144306 5144306 C T rs151229504 AKR1C3 Nonsynonymous SNV P195L 0.018 0.01 0.003 2 21 4 0.005 1 3 0 0 0 Likely benign 23 2205 chr1 46476587 46476587 T G rs11211247 MAST2 Nonsynonymous SNV D388E 0.773 0.781 0.728 294 908 300 0.754 214 343 118 78 116 2.07 2206 chr10 5567366 5567366 G A rs1142825 CALML3 Synonymous SNV L106L 0.24 0.263 0.221 83 282 101 0.213 65 28 18 7 5 4.518 2207 chr10 61831271 61831271 T C rs10821668 ANK3 Nonsynonymous SNV K3123R 0.284 0.292 0.293 104 334 112 0.267 86 51 18 14 20 Likely benign 10.18 2208 chr10 6498723 6498723 G A rs11258943 PRKCQ Synonymous SNV I395I 0.175 0.18 0.139 80 205 69 0.205 41 21 5 2 9 4.973 2209 chr10 7285632 7285632 A G rs2248474 SFMBT2 Synonymous SNV D336D 0.847 0.88 0.895 351 994 338 0.9 263 422 148 119 157 0.05 2210 chr10 73082563 73082563 A G rs2277257 SLC29A3 Nonsynonymous SNV R18G 0.365 0.398 0.422 142 428 153 0.364 124 81 32 29 20 Benign 5.151 2211 chr1 46493460 46493460 T G rs1707336 MAST2 Nonsynonymous SNV I659M 0.49 0.477 0.449 184 575 183 0.472 132 134 43 32 52 19.03 2212 chr10 61831744 61831744 A G rs10740006 ANK3 Synonymous SNV A2965A 0.284 0.292 0.293 104 334 112 0.267 86 51 18 14 20 Likely benign 0.325 2213 chr10 73111408 73111408 C T rs780668 SLC29A3 Nonsynonymous SNV S158F 0.779 0.758 0.728 294 914 291 0.754 214 351 107 82 111 Benign, drug response 29.1 2214 chr1 46496709 46496709 A G rs925524 MAST2 Synonymous SNV S913S 0.732 0.706 0.735 287 859 271 0.736 216 319 91 85 104 4.691 2215 chr10 51582894 51582894 C T rs41306524 NCOA4 Synonymous SNV D223D 0.118 0.109 0.095 37 139 42 0.095 28 7 2 3 2 10.36 2216 chr1 46498375 46498375 A G rs1622208 MAST2 Synonymous SNV V1174V 0.724 0.706 0.721 280 850 271 0.718 212 310 92 81 99 5.597 2217 chr10 73115941 73115941 T C rs2252997 SLC29A3 Synonymous SNV T238T 0.924 0.938 0.908 357 1085 360 0.915 267 501 168 123 163 Benign 0.116 2218 chr10 52002980 52002980 T G rs3739979 ASAH2 Synonymous SNV S164S 0.158 0.159 0.184 65 185 61 0.167 54 18 5 4 6 4.059 2219 chr1 46500993 46500993 A G rs1052610 MAST2 Nonsynonymous SNV D1550G 0.139 0.146 0.129 61 163 56 0.156 38 11 4 1 5 0.049 2220 chr10 73115942 73115942 G A rs2252996 SLC29A3 Nonsynonymous SNV V239I 0.923 0.938 0.908 357 1084 360 0.915 267 500 168 123 163 Benign 0.04 2221 chr10 5925029 5925029 G A rs149211365 ANKRD16 Synonymous SNV G263G 0.019 0.008 0.017 5 22 3 0.013 5 0 0 0 0 11.52 2222 chr10 52005153 52005153 A G rs7097319 ASAH2 Synonymous SNV A63A 0.162 0.161 0.184 66 190 62 0.169 54 19 5 4 6 1.326 2223 chr10 69773841 69773841 G A rs866255 HERC4 Synonymous SNV S82S 0.271 0.326 0.299 99 318 125 0.254 88 38 21 12 12 9.455 2224 chr1 46521517 46521517 G A rs785468 LOC110117498-PIK3R3, PIK3R3 Synonymous SNV S141S 0.713 0.695 0.69 280 837 267 0.718 203 301 88 80 99 9.81 2225 chr10 73121913 73121913 A G rs2487068 SLC29A3 Nonsynonymous SNV I248V 0.854 0.883 0.847 329 1003 339 0.844 249 424 148 106 137 Benign 0.001 2226 chr1 46521559 46521559 A T rs785467 LOC110117498-PIK3R3, PIK3R3 Nonsynonymous SNV N127K 0.721 0.706 0.677 280 846 271 0.718 199 306 92 79 99 9.016 2227 chr10 60553261 60553261 G A rs148760146 BICC1 Synonymous SNV V355V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 2228 chr10 5937094 5937094 A G rs149817075 FBH1 Nonsynonymous SNV H33R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 1.171 2229 chr10 64952835 64952835 G A rs41274064 JMJD1C Nonsynonymous SNV P1761L 0.024 0.039 0.041 9 28 15 0.023 12 1 0 1 0 Benign 17.76 2230 chr10 73121945 73121945 T C rs1084004 SLC29A3 Synonymous SNV G258G 0.928 0.945 0.929 362 1089 363 0.928 273 505 171 128 168 Benign 0.01 2231 chr1 46655158 46655158 T C rs6659553 POMGNT1 Nonsynonymous SNV M601V 0.999 1 0.997 388 1173 384 0.995 293 586 192 146 193 Benign 5.36 2232 chr10 73269714 73269714 T C rs2297953 CDH23-AS1 0.656 0.672 0.643 244 770 258 0.626 189 249 85 61 73 Benign 0.049 2233 chr10 53822301 53822301 A G rs34997494 PRKG1 Nonsynonymous SNV N267S 0.06 0.049 0.041 22 70 19 0.056 12 2 0 0 1 Benign 23.3 2234 chr10 59959052 59959052 T C rs767825603 IPMK Nonsynonymous SNV T193A 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 13.6 2235 chr10 73270906 73270906 T C rs3802720 CDH23 Synonymous SNV V122V 0.663 0.68 0.67 247 778 261 0.633 197 256 87 63 76 Benign 3.393 2236 chr10 73377054 73377054 G A rs74608315 CDH23 Synonymous SNV P346P 0.046 0.031 0.044 14 54 12 0.036 13 2 0 1 0 Benign 5.225 2237 chr1 46714242 46714242 A G rs28363192 RAD54L Nonsynonymous SNV D21G 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 9.743 2238 chr10 73406504 73406504 T C rs2305209 CDH23 Synonymous SNV L527L 0.171 0.182 0.218 74 201 70 0.19 64 16 8 5 4 Benign 0.022 2239 chr10 73455201 73455201 T C rs3752752 CDH23 Synonymous SNV N772N 0.786 0.776 0.789 298 923 298 0.764 232 366 117 91 113 Benign 4.5 2240 chr10 61414011 61414011 G T rs2242206 SLC16A9 Nonsynonymous SNV T171K 0.184 0.169 0.197 70 216 65 0.179 58 24 4 6 7 0.007 2241 chr1 46806550 46806550 C T rs41293277 NSUN4 Nonsynonymous SNV L18F 0.226 0.227 0.214 84 265 87 0.215 63 29 13 5 13 0.685 2242 chr10 73455273 73455273 T C rs3752751 CDH23 Synonymous SNV D796D 0.786 0.773 0.789 298 923 297 0.764 232 366 116 91 113 Benign 0.103 2243 chr10 73466709 73466709 T C rs10823829 CDH23 Synonymous SNV S1003S 0.062 0.055 0.109 20 73 21 0.051 32 5 0 2 0 Benign 1.426 2244 chr1 46810530 46810530 A G rs3737744 NSUN4 Nonsynonymous SNV T2A 0.411 0.448 0.381 175 483 172 0.449 112 94 40 17 42 16.69 2245 chr10 73492079 73492079 A G rs1227065 CDH23 Nonsynonymous SNV N1351D 0.882 0.875 0.837 343 1036 336 0.879 246 456 144 101 152 Benign 1.492 2246 chr1 42619152 42619152 C A rs2297567 GUCA2B Nonsynonymous SNV P11T 0.187 0.195 0.207 80 219 75 0.205 61 17 10 9 8 0.024 2247 chr10 64565011 64565011 G A rs61744064 ADO Synonymous SNV E64E 0.062 0.063 0.085 21 73 24 0.054 25 3 1 1 0 9.956 2248 chr1 46810670 46810670 T C rs17361763 NSUN4 Synonymous SNV D48D 0.227 0.229 0.211 82 267 88 0.21 62 28 13 5 13 0.04 2249 chr10 73498355 73498355 G A rs56181447 CDH23 Nonsynonymous SNV R1437Q 0.058 0.049 0.088 16 68 19 0.041 26 3 0 2 0 Benign/Likely benign 23.5 2250 chr10 69955255 69955255 C T rs151282801 MYPN Nonsynonymous SNV R1042C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 2251 chr10 6002470 6002470 G A rs201871586 IL15RA Nonsynonymous SNV P79L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.3 2252 chr1 46827485 46827485 C T rs1053624 NSUN4 Synonymous SNV P325P 0.227 0.229 0.211 82 267 88 0.21 62 28 13 5 13 8.566 2253 chr10 73501556 73501556 G A rs1227051 CDH23 Nonsynonymous SNV A1575T 0.842 0.849 0.82 324 989 326 0.831 241 415 134 98 137 Benign 9.882 2254 chr10 69571336 69571336 G A rs3740049 DNAJC12 Synonymous SNV S81S 0.08 0.078 0.085 19 94 30 0.049 25 3 2 3 2 12.2 2255 chr1 46871986 46871986 T C rs324419 FAAH Synonymous SNV C299C 0.825 0.828 0.837 329 968 318 0.844 246 393 131 105 138 0.032 2256 chr10 61829951 61829951 T C rs147527383 ANK3 Nonsynonymous SNV E3563G 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 2257 chr1 42880516 42880516 T C rs1055055 RIMKLA Synonymous SNV S349S 0.687 0.648 0.65 247 806 249 0.633 191 274 82 65 82 0.283 2258 chr1 46976717 46976717 C T rs12045245 DMBX1 Synonymous SNV A153A 0.178 0.177 0.207 77 209 68 0.197 61 18 1 6 6 7.959 2259 chr10 73520632 73520632 A C rs3747869 VSIR Nonsynonymous SNV D187E 0.93 0.914 0.939 357 1092 351 0.915 276 509 160 131 163 Benign 10.88 2260 chr10 61819556 61819556 G A rs12356776 ANK3 Synonymous SNV D789D 0.015 0.023 0.027 15 18 9 0.038 8 0 0 0 0 11.45 2261 chr1 43131653 43131653 G A rs12244 PPIH Synonymous SNV A70A 0.112 0.13 0.109 39 131 50 0.1 32 15 2 1 2 7.479 2262 chr1 46976837 46976837 C T rs1886116 DMBX1 Synonymous SNV P193P 0.443 0.505 0.405 155 520 194 0.397 119 112 42 24 29 15.51 2263 chr10 69666598 69666598 T C rs2273773 SIRT1 Synonymous SNV L29L 0.062 0.047 0.071 17 73 18 0.044 21 1 0 1 1 1.373 2264 chr10 61830642 61830642 T A rs140183285 ANK3 Nonsynonymous SNV T3333S 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.85 2265 chr10 73521371 73521371 C T rs3747867 VSIR Synonymous SNV E165E 0.223 0.227 0.245 103 262 87 0.264 72 25 12 11 12 12.22 2266 chr10 61831290 61831290 T C rs28932171 ANK3 Nonsynonymous SNV I3117V 0.101 0.125 0.136 47 119 48 0.121 40 5 6 4 4 Likely benign 5.873 2267 chr1 46999020 46999020 G A rs72894667 TMEM275 Synonymous SNV N60N 0.154 0.159 0 89 181 61 0.228 0 25 8 0 13 8.866 2268 chr10 70101417 70101417 G C rs16925347 HNRNPH3 Nonsynonymous SNV G176A 0.06 0.036 0.037 17 71 14 0.044 11 2 1 0 0 11.12 2269 chr10 73533177 73533177 A G rs3747862 VSIR Nonsynonymous SNV L7P 0.434 0.414 0.405 167 509 159 0.428 119 106 27 26 31 Benign 10.87 2270 chr1 47078637 47078637 T C rs4660947 MOB3C Synonymous SNV A171A 0.48 0.401 0.561 204 563 154 0.523 165 130 26 46 53 0.023 2271 chr1 43296173 43296173 C T rs33950227 ERMAP Synonymous SNV L18L 0.234 0.219 0.241 79 275 84 0.203 71 26 9 9 8 13.08 2272 chr10 69785435 69785435 - A rs3834396 HERC4 0.067 0.047 0.088 20 79 18 0.051 26 2 0 1 1 2273 chr10 61833944 61833944 C T rs770107349 ANK3 Nonsynonymous SNV R2232Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 13.03 2274 chr10 61831984 61831984 G T rs11599164 ANK3 Nonsynonymous SNV H2885Q 0.101 0.122 0.133 39 118 47 0.1 39 4 6 4 4 Likely benign 13.5 2275 chr10 73537614 73537614 G A rs17712523 CDH23 Nonsynonymous SNV V1675I 0.145 0.125 0.129 55 170 48 0.141 38 19 4 1 3 Benign 16.96 2276 chr1 43296195 43296195 C T rs33953680 ERMAP Nonsynonymous SNV H26Y 0.276 0.271 0.296 104 324 104 0.267 87 34 12 13 10 0.003 2277 chr1 47080665 47080665 C T rs11211328 MOB3C Nonsynonymous SNV M28I 0.284 0.234 0.269 131 333 90 0.336 79 43 10 11 17 10.76 2278 chr10 61840327 61840327 T C rs139982397 ANK3 Nonsynonymous SNV K592R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 23.6 2279 chr10 73550117 73550117 C G rs11592462 CDH23 Nonsynonymous SNV T1999S 0.495 0.456 0.466 204 581 175 0.523 137 134 36 31 45 Benign 14.01 2280 chr10 70178844 70178844 T C DNA2 Nonsynonymous SNV R972G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 2281 chr1 43395635 43395635 C T rs2229682 SLC2A1 Synonymous SNV P196P 0.206 0.214 0.207 76 242 82 0.195 61 22 7 5 10 Benign 15.55 2282 chr1 47080679 47080679 G A rs6671527 MOB3C Stop gain R24X 0.474 0.398 0.558 205 556 153 0.526 164 129 26 46 53 29.5 2283 chr10 61834573 61834573 G A rs17208576 ANK3 Synonymous SNV A2022A 0.099 0.122 0.133 39 116 47 0.1 39 4 6 4 4 Likely benign 7.572 2284 chr1 43396414 43396414 G A rs11537641 SLC2A1 Synonymous SNV C133C 0.209 0.214 0.211 80 245 82 0.205 62 21 7 4 12 Benign 11.96 2285 chr10 73767859 73767859 G A rs3740129 CHST3 Nonsynonymous SNV R357Q 0.401 0.417 0.357 166 471 160 0.426 105 94 26 26 34 Benign 11.53 2286 chr10 68040325 68040325 C T rs4548513 CTNNA3 Nonsynonymous SNV S596N 0.348 0.367 0.337 132 409 141 0.338 99 74 19 14 23 4.704 2287 chr10 61965625 61965625 A G rs2297979 ANK3 Synonymous SNV I389I 0.144 0.198 0.173 66 169 76 0.169 51 10 11 3 4 Likely benign 10.56 2288 chr1 47080741 47080741 C T rs12029680 MOB3C Nonsynonymous SNV R3H 0.289 0.237 0.269 131 339 91 0.336 79 44 11 13 17 0.534 2289 chr10 61831651 61831651 C G rs41274672 ANK3 Nonsynonymous SNV Q2996H 0.031 0.023 0.02 9 36 9 0.023 6 2 0 0 0 Benign 0.003 2290 chr10 74886544 74886544 A G rs17658872 NUDT13 Nonsynonymous SNV M76V 0.035 0.029 0.048 8 41 11 0.021 14 1 0 0 0 26.2 2291 chr10 70332891 70332891 C G rs143870952 TET1 Nonsynonymous SNV P266A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.232 2292 chr1 47133811 47133811 T C rs11211337 ATPAF1 Nonsynonymous SNV S85G 0.814 0.82 0.69 311 956 315 0.797 203 416 138 84 133 0.003 2293 chr10 61905727 61905727 T C rs41283526 ANK3 Synonymous SNV K872K 0.009 0.003 0 5 10 1 0.013 0 0 0 0 0 Likely benign 20.6 2294 chr10 75406912 75406912 G T rs34163229 SYNPO2L Nonsynonymous SNV S609Y 0.159 0.172 0.184 71 187 66 0.182 54 16 5 3 4 21.2 2295 chr1 47138819 47138819 T G rs614486 TEX38 Nonsynonymous SNV D104E 0.333 0.247 0.381 138 391 95 0.354 112 65 11 17 28 0.002 2296 chr10 75407290 75407290 G A rs3812629 SYNPO2L Nonsynonymous SNV P483L 0.161 0.172 0.184 72 189 66 0.185 54 16 5 3 4 23 2297 chr1 47139103 47139103 C T rs1025806 TEX38 Nonsynonymous SNV A199V 0.318 0.224 0.354 128 373 86 0.328 104 59 8 15 25 19.8 2298 chr10 70406189 70406189 G C rs140573369 TET1 Nonsynonymous SNV V1235L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 2299 chr1 47685455 47685455 T C rs927462 TAL1 Synonymous SNV K152K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 2300 chr10 75407649 75407649 A C rs4746139 SYNPO2L Synonymous SNV P363P 0.148 0.159 0.167 67 174 61 0.172 49 16 5 4 4 0.001 2301 chr1 47717189 47717189 A G rs2758735 STIL Synonymous SNV P1162P 0.553 0.589 0.558 209 649 226 0.536 164 162 66 48 48 Benign 0.062 2302 chr10 75415677 75415677 C T rs60632610 SYNPO2L Nonsynonymous SNV G2S 0.144 0.154 0.167 58 169 59 0.149 49 19 5 3 4 32 2303 chr1 47717519 47717519 G A rs113337758 STIL Synonymous SNV S1052S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.08 2304 chr10 75506674 75506674 T C rs2306325 SEC24C Synonymous SNV Y28Y 0.158 0.18 0.18 64 185 69 0.164 53 16 6 5 4 0.021 2305 chr10 70549579 70549579 G A rs11594683 CCAR1 Synonymous SNV S1085S 0.057 0.068 0.041 26 67 26 0.067 12 3 2 1 1 14.21 2306 chr1 47746678 47746678 G C rs10789505 STIL Synonymous SNV S484S 0.111 0.089 0.068 47 130 34 0.121 20 7 2 0 0 Benign 1.535 2307 chr10 70645376 70645376 A C rs10509305 STOX1 Nonsynonymous SNV E608D 0.218 0.237 0.184 85 256 91 0.218 54 20 13 7 11 Conflicting interpretations of pathogenicity 0.001 2308 chr10 75527708 75527708 A G rs4746147 SEC24C Synonymous SNV T708T 0.158 0.182 0.18 64 185 70 0.164 53 16 6 5 4 0.279 2309 chr10 75535326 75535326 T C rs776882887 FUT11 Synonymous SNV Y454Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 2310 chr1 47767914 47767914 G A rs3125630 STIL Nonsynonymous SNV A86V 0.444 0.411 0.442 180 521 158 0.462 130 99 32 31 34 Benign 9.328 2311 chr1 43777408 43777408 C T rs375916915 TIE1 Nonsynonymous SNV P422L 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 27.3 2312 chr10 75558867 75558867 G A rs2271271 ZSWIM8 Synonymous SNV L1423L 0.865 0.88 0.857 339 1016 338 0.869 252 438 148 107 146 6.431 2313 chr10 70696713 70696713 C T rs5030895 DDX50 Synonymous SNV Y539Y 0.894 0.888 0.786 360 1049 341 0.923 231 467 153 110 168 13.13 2314 chr10 75559077 75559077 G A rs11000780 ZSWIM8 Synonymous SNV P1493P 0.157 0.174 0.17 65 184 67 0.167 50 16 5 5 4 8.704 2315 chr1 47799639 47799639 G C rs7543016 CMPK1 Nonsynonymous SNV G8R 0.435 0.398 0.218 173 511 153 0.444 64 100 32 22 35 4.743 2316 chr10 75632760 75632760 C T rs2675671 CAMK2G Synonymous SNV K49K 0.668 0.633 0.612 249 784 243 0.638 180 267 79 52 81 14.28 2317 chr1 43896387 43896387 G A rs111932993 SZT2 Synonymous SNV L1510L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign/Likely benign 7.004 2318 chr10 75673101 75673101 T C rs2227564 PLAU Nonsynonymous SNV L124P 0.879 0.885 0.874 340 1032 340 0.872 257 453 150 112 147 3.304 2319 chr1 47882497 47882497 C T rs34082359 FOXE3 Synonymous SNV A170A 0.378 0.346 0.344 148 444 133 0.379 101 81 23 17 24 Benign 22.1 2320 chr10 64937501 64937501 G C rs34491125 JMJD1C Nonsynonymous SNV D2181E 0.039 0.036 0.044 9 46 14 0.023 13 0 1 0 0 Benign 22.1 2321 chr1 47904668 47904668 - CCGCAC rs3046924 FOXD2 H293_A294insPH 0.992 0.992 0.929 383 1165 381 0.982 273 578 189 134 188 2322 chr10 75865065 75865065 G A rs767809 VCL Synonymous SNV P796P 0.632 0.643 0.592 257 742 247 0.659 174 237 86 51 85 Benign 9.187 2323 chr1 47904909 47904909 G C rs2405913 FOXD2 Nonsynonymous SNV A368P 0.981 0.974 0.929 383 1152 374 0.982 273 576 187 136 191 2.607 2324 chr10 75871735 75871735 C G rs2131956 VCL Synonymous SNV G938G 0.836 0.833 0.806 310 981 320 0.795 237 403 131 97 122 Benign 11.72 2325 chr10 7605067 7605067 C T rs3824658 ITIH5 Nonsynonymous SNV R722Q 0.744 0.719 0.738 298 874 276 0.764 217 332 98 82 113 11.18 2326 chr10 71010375 71010375 C T rs5030948 HKDC1 Synonymous SNV F601F 0.167 0.185 0.112 82 196 71 0.21 33 16 7 1 12 11.79 2327 chr1 48459907 48459907 C T rs3814006 TRABD2B Synonymous SNV A155A 0.293 0.307 0.276 110 344 118 0.282 81 46 20 15 15 16.39 2328 chr10 70856963 70856963 C G rs67852477 SRGN Nonsynonymous SNV P68R 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 Benign 20.6 2329 chr10 70332672 70332672 T A rs12773594 TET1 Nonsynonymous SNV S193T 0.119 0.096 0.112 55 140 37 0.141 33 8 2 5 6 19.16 2330 chr10 7605078 7605078 C - rs398102295 ITIH5 0.991 0.979 0.969 383 1163 376 0.982 285 576 184 138 188 2331 chr1 48697733 48697733 T G rs212991 SLC5A9 Nonsynonymous SNV I269M 0.999 1 0.997 388 1173 384 0.995 293 586 192 146 193 5.614 2332 chr10 7605101 7605101 A G rs10795551 ITIH5 Nonsynonymous SNV F711S 0.996 0.99 0.993 384 1169 380 0.985 292 582 188 145 189 11.6 2333 chr10 70892791 70892791 C T rs5030932 VPS26A Nonsynonymous SNV P5L 0.112 0.146 0.119 58 131 56 0.149 35 6 6 5 8 18.82 2334 chr10 70405237 70405237 G A rs12241767 TET1 Synonymous SNV E917E 0.094 0.078 0.061 42 110 30 0.108 18 8 3 1 4 1.33 2335 chr10 7621771 7621771 A G rs17431370 ITIH5 Synonymous SNV C241C 0.212 0.229 0.221 92 249 88 0.236 65 24 11 7 10 2.656 2336 chr1 48708250 48708250 C T rs78427303 SLC5A9 Nonsynonymous SNV A600V 0.114 0.109 0.085 41 134 42 0.105 25 5 0 0 4 0.002 2337 chr10 76854564 76854564 C T rs3088142 DUSP13 Nonsynonymous SNV C206Y 0.474 0.497 0.466 179 556 191 0.459 137 147 48 31 37 3.587 2338 chr1 48708278 48708278 G A rs75538709 SLC5A9 Synonymous SNV E609E 0.148 0.122 0.102 54 174 47 0.138 30 10 0 2 5 2.909 2339 chr10 70406518 70406518 A T rs72799516 TET1 Synonymous SNV T1344T 0.034 0.029 0.027 10 40 11 0.026 8 1 1 0 0 0.007 2340 chr10 76855412 76855412 G A rs3740317 DUSP13 Synonymous SNV D155D 0.296 0.292 0.286 101 348 112 0.259 84 53 14 10 13 9.629 2341 chr1 44121351 44121351 G T rs640762 KDM4A Synonymous SNV T76T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 8.756 2342 chr1 48764419 48764419 C T rs1056042 SPATA6 Nonsynonymous SNV C464Y 0.401 0.375 0.439 138 471 144 0.354 129 101 19 28 25 28.9 2343 chr10 76867899 76867899 T C rs7912300 DUSP13 Nonsynonymous SNV K73R 0.299 0.292 0.289 98 351 112 0.251 85 53 14 10 13 23 2344 chr10 69571359 69571359 G A rs182961172 DNAJC12 Nonsynonymous SNV R74C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 2345 chr1 49224584 49224584 G T rs1128934 BEND5 Synonymous SNV R76R 0.864 0.854 0.85 332 1014 328 0.851 250 435 140 109 141 10.33 2346 chr10 7763661 7763661 A G rs7075296 ITIH2 Nonsynonymous SNV N263S 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.002 2347 chr1 50661411 50661411 C T rs2480683 ELAVL4 Synonymous SNV P229P 0.946 0.961 0.939 371 1111 369 0.951 276 525 178 129 176 12.32 2348 chr10 78944590 78944590 G A rs1131824 KCNMA1 Synonymous SNV F175F 0.371 0.383 0.408 150 435 147 0.385 120 69 25 27 28 Benign 9.818 2349 chr1 50666515 50666515 C T rs2494876 ELAVL4 Nonsynonymous SNV P273S 0.91 0.935 0.929 359 1068 359 0.921 273 485 169 126 165 14.58 2350 chr10 61967941 61967941 G A rs117138204 ANK3 Synonymous SNV C332C 0.02 0.01 0.007 10 23 4 0.026 2 1 0 0 0 Benign/Likely benign 13.23 2351 chr10 79566632 79566632 G A rs1058198 DLG5 Synonymous SNV D1617D 0.365 0.422 0.412 146 428 162 0.374 121 83 44 25 31 10.11 2352 chr10 62029934 62029934 G C rs71495633 ANK3 Synonymous SNV V139V 0.152 0.154 0.119 67 178 59 0.172 35 13 4 2 8 Likely benign 9.763 2353 chr1 44424218 44424218 C T rs758802313 IPO13 Nonsynonymous SNV S612L 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 23.3 2354 chr10 65380587 65380587 A G rs1133386 REEP3 Synonymous SNV S242S 0.033 0.034 0.024 29 39 13 0.074 7 0 1 0 0 3.402 2355 chr10 79579222 79579222 G A rs1248634 DLG5 Synonymous SNV G1176G 0.227 0.214 0.228 97 267 82 0.249 67 28 12 6 7 12.7 2356 chr1 50884778 50884778 G A rs2746610 DMRTA2 Synonymous SNV A396A 0.477 0.484 0.616 198 560 186 0.508 181 271 90 85 93 12.37 2357 chr10 79584178 79584178 G C rs1248629 DLG5 Synonymous SNV R782R 0.643 0.661 0.711 259 755 254 0.664 209 239 85 72 86 9.445 2358 chr1 51873951 51873951 G A rs1065754 EPS15 Synonymous SNV Y129Y 0.576 0.594 0.629 216 676 228 0.554 185 192 66 56 65 9.462 2359 chr1 44442930 44442930 A G rs2428954 ATP6V0B Synonymous SNV Q211Q 0.193 0.167 0.139 81 227 64 0.208 41 21 6 4 8 7.1 2360 chr10 79616605 79616605 T C rs1248696 DLG5 Nonsynonymous SNV Q140R 0.902 0.917 0.915 358 1059 352 0.918 269 476 161 126 165 0.002 2361 chr1 52231560 52231560 C T rs61739207 OSBPL9 Nonsynonymous SNV T104I 0.012 0.003 0.02 3 14 1 0.008 6 0 0 0 0 24.6 2362 chr10 68687728 68687728 A C LRRTM3 Nonsynonymous SNV I352L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.678 2363 chr10 8093034 8093034 G T rs501764 GATA3-AS1 0 0 0.81 0 0 0 0 238 0 0 106 0 2.32 2364 chr1 44605056 44605097 TCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG - KLF18 T736_Q749del 0.198 0.195 0 70 232 75 0.179 0 21 7 0 3 2365 chr1 44605664 44605664 G A rs34527624 KLF18 Nonsynonymous SNV T547M 0.296 0.289 0 115 347 111 0.295 0 46 18 0 13 1.538 2366 chr1 52264064 52264064 A G rs1770791 NRDC Synonymous SNV L821L 0.33 0.281 0.245 118 387 108 0.303 72 57 17 7 19 15.09 2367 chr10 8093079 8093079 C T rs12782941 GATA3-AS1 0 0 0.034 0 0 0 0 10 0 0 0 0 5.89 2368 chr1 44605894 44605894 G C rs552613763 KLF18 Synonymous SNV T470T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.761 2369 chr10 8093185 8093185 T C rs485411 GATA3-AS1 0 0 0.823 0 0 0 0 242 0 0 101 0 0.125 2370 chr10 5959602 5959602 C T rs11553630 FBH1 Synonymous SNV D568D 0.026 0.026 0.024 10 31 10 0.026 7 0 0 0 0 12.54 2371 chr10 81680308 81680308 G A rs3750876 MBL1P 0 0 0.099 0 0 0 0 29 0 0 2 0 5.556 2372 chr1 52266350 52266350 C T rs2273198 NRDC Synonymous SNV L773L 0.072 0.068 0.054 23 85 26 0.059 16 2 0 1 1 15.66 2373 chr10 81926702 81926702 G A rs1049550 ANXA11 Nonsynonymous SNV R230C 0.376 0.409 0.354 124 441 157 0.318 104 88 23 19 22 34 2374 chr10 71874683 71874683 G A rs2271696 AIFM2 Synonymous SNV Y321Y 0.082 0.081 0.041 25 96 31 0.064 12 1 1 0 1 0.274 2375 chr1 52306064 52306066 TCT - rs35723519 NRDC E154del 0.531 0.529 0.429 221 623 203 0.567 126 166 55 40 63 2376 chr10 71874734 71874734 G A rs2271695 AIFM2 Synonymous SNV I304I 0.082 0.081 0.041 25 96 31 0.064 12 1 1 0 1 12.22 2377 chr10 81932595 81932595 G A rs147334030 ANXA11 Nonsynonymous SNV P8L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 2378 chr1 45810923 45810923 G A rs3893383 TESK2 Synonymous SNV P352P 0.092 0.096 0.126 28 108 37 0.072 37 5 1 0 2 5.326 2379 chr1 52819290 52819290 C T rs41294496 CC2D1B Synonymous SNV G820G 0.01 0.008 0.017 4 12 3 0.01 5 0 0 0 0 15.81 2380 chr10 71874866 71874866 T C rs61736904 AIFM2 Synonymous SNV L260L 0.078 0.07 0.041 25 91 27 0.064 12 1 1 0 1 0.506 2381 chr1 45962983 45962983 G A rs72898310 CCDC163 Stop gain Q84X 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 36 2382 chr10 71647223 71647223 A C rs11816811 COL13A1 Synonymous SNV G128G 0.129 0.099 0.126 51 151 38 0.131 37 8 3 1 3 0.927 2383 chr10 82034842 82034842 A G rs10887711 MAT1A Synonymous SNV A294A 0.642 0.641 0.673 251 754 246 0.644 198 251 80 69 77 Benign 0.059 2384 chr10 71876382 71876382 C T rs2394656 AIFM2 Synonymous SNV A255A 0.729 0.721 0.769 297 856 277 0.762 226 309 96 89 111 11.96 2385 chr1 52940845 52940845 C A rs12127732 TUT4 Nonsynonymous SNV D796Y 0.011 0.008 0.017 5 13 3 0.013 5 0 0 0 0 Benign 25.8 2386 chr10 82034854 82034854 T C rs10788546 MAT1A Synonymous SNV V290V 0.643 0.641 0.673 251 755 246 0.644 198 252 80 69 77 Benign 6.479 2387 chr1 45974849 45974849 A G rs35219601 MMACHC Nonsynonymous SNV S214G 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Likely benign 16.12 2388 chr10 71880858 71880858 A G rs10999147 AIFM2 Nonsynonymous SNV M135T 0.144 0.146 0.105 44 169 56 0.113 31 10 8 1 1 23.7 2389 chr10 82040052 82040052 A G rs1143694 MAT1A Synonymous SNV A142A 0.678 0.703 0.701 270 796 270 0.692 206 278 99 75 91 Benign 5.885 2390 chr10 83637775 83637775 C G rs1884282 NRG3 Nonsynonymous SNV T20R 0.079 0.083 0.068 31 93 32 0.079 20 7 1 0 2 Uncertain significance 2.946 2391 chr1 52991638 52991638 C T rs12123698 TUT4 Synonymous SNV P105P 0.311 0.331 0.412 122 365 127 0.313 121 42 20 28 22 2.155 2392 chr1 46032311 46032311 A G rs2229540 AKR1A1 Nonsynonymous SNV N52S 0.049 0.068 0.044 19 57 26 0.049 13 1 0 0 2 27.1 2393 chr10 84745256 84745256 C T rs2295933 NRG3 Synonymous SNV S662S 0.271 0.24 0.303 107 318 92 0.274 89 34 10 15 16 Uncertain significance 12.21 2394 chr1 53072454 53072454 T C rs1970951 GPX7 Synonymous SNV F79F 0.863 0.82 0.874 345 1013 315 0.885 257 440 129 112 152 4.068 2395 chr10 85993836 85993836 A G rs4933986 LRIT1 Synonymous SNV N296N 0.985 0.982 0.986 383 1156 377 0.982 290 570 185 143 188 0.005 2396 chr1 53153432 53153432 T C rs443751 COA7 Nonsynonymous SNV K219R 0.313 0.32 0.282 108 368 123 0.277 83 56 15 11 13 12.18 2397 chr10 72015409 72015409 C A rs10999212 NPFFR1 Synonymous SNV P199P 0.206 0.214 0.228 92 242 82 0.236 67 27 5 8 11 18.92 2398 chr10 87675994 87675994 G A rs35815235 GRID1 Synonymous SNV A243A 0.043 0.049 0.051 10 50 19 0.026 15 3 0 0 1 14.62 2399 chr10 71905569 71905569 C A rs3750774 TYSND1 Synonymous SNV L258L 0.462 0.469 0.429 180 542 180 0.462 126 128 39 31 44 8.756 2400 chr10 88203068 88203068 T C rs7094132 WAPL Synonymous SNV T1119T 0.839 0.88 0.871 336 985 338 0.862 256 407 149 111 145 9.703 2401 chr10 72025954 72025954 G A rs3812696 NPFFR1 Synonymous SNV I67I 0.061 0.073 0.068 19 72 28 0.049 20 3 1 0 0 14.22 2402 chr10 70760271 70760271 T C rs62625033 KIFBP Nonsynonymous SNV M173T 0.009 0.016 0.003 8 10 6 0.021 1 0 0 0 0 Benign/Likely benign 8.996 2403 chr1 53250650 53250650 G A rs6588443 ZYG11B Synonymous SNV G398G 0.51 0.479 0.5 206 599 184 0.528 147 149 42 35 57 9.523 2404 chr10 71906150 71906150 T C rs4746970 TYSND1 Nonsynonymous SNV T65A 0.463 0.469 0.425 179 544 180 0.459 125 130 39 31 44 0.002 2405 chr10 88466440 88466440 C T rs200796750 LDB3 Nonsynonymous SNV T350I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.433 2406 chr10 70404892 70404892 C T rs376888861 TET1 Synonymous SNV N802N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.37 2407 chr10 7214584 7214584 G C rs3740212 SFMBT2 Nonsynonymous SNV P675R 0.004 0.008 0.01 3 5 3 0.008 3 0 0 0 0 23.9 2408 chr10 61830584 61830584 T C rs61845768 ANK3 Nonsynonymous SNV E3352G 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 Benign/Likely benign 14.18 2409 chr1 53320274 53320274 G T rs480299 ZYG11A Nonsynonymous SNV E76D 0.641 0.648 0.612 234 752 249 0.6 180 237 81 53 79 0.047 2410 chr10 88702350 88702350 G C rs4934281 MMRN2 Nonsynonymous SNV H731D 0.981 0.979 0.939 374 1152 376 0.959 276 565 184 134 179 1.923 2411 chr1 53537266 53537266 G A rs1769316 PODN Synonymous SNV T124T 0.482 0.458 0.469 181 566 176 0.464 138 138 47 34 48 13.02 2412 chr10 88702390 88702390 G A rs10887673 MMRN2 Synonymous SNV A717A 0.289 0.276 0.333 103 339 106 0.264 98 66 15 17 12 11.93 2413 chr10 72326400 72326400 G A rs10999406 PALD1 Nonsynonymous SNV G828R 0.219 0.214 0.19 89 257 82 0.228 56 27 8 10 10 11.72 2414 chr1 53544439 53544439 G A rs1288388 PODN Synonymous SNV P419P 0.699 0.74 0.633 259 821 284 0.664 186 297 107 60 90 10.54 2415 chr10 70045157 70045157 G A rs35708572 PBLD Synonymous SNV H234H 0.087 0.086 0.058 36 102 33 0.092 17 0 2 0 1 4.25 2416 chr10 88717140 88717140 T A rs4244973 MMRN2 Synonymous SNV V53V 0.984 0.982 0.949 375 1155 377 0.962 279 568 185 135 180 6.081 2417 chr10 88717154 88717154 C T rs3750823 MMRN2 Nonsynonymous SNV G49S 0.451 0.458 0.364 180 529 176 0.462 107 128 37 25 37 1.208 2418 chr1 53544597 53544597 T C rs1288389 PODN Nonsynonymous SNV V472A 0.904 0.924 0.888 358 1061 355 0.918 261 483 164 119 164 0.208 2419 chr10 61834053 61834053 G T rs771095356 ANK3 Nonsynonymous SNV P2196T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.63 2420 chr10 88730312 88730312 T C rs4869 ADIRF Synonymous SNV I68I 0.605 0.612 0.558 232 710 235 0.595 164 209 71 46 65 8.677 2421 chr1 53546542 53546542 T C rs147003164 PODN Nonsynonymous SNV F552S 0 0 0 0 0 0 0 0 0 0 0 0 25.4 2422 chr10 90342837 90342837 C G rs2296545 RNLS Nonsynonymous SNV E37D 0.405 0.432 0.446 164 475 166 0.421 131 97 42 28 33 12.32 2423 chr1 53553702 53553702 A G rs1288400 SLC1A7 Synonymous SNV S613S 0.995 1 0.997 389 1168 384 0.997 293 582 192 146 194 0.006 2424 chr10 62149193 62149193 C T rs746466187 ANK3 Nonsynonymous SNV R35Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.3 2425 chr10 90356598 90356598 A G rs1409136 LIPJ Nonsynonymous SNV I210V 0.715 0.714 0.667 291 839 274 0.746 196 299 102 79 108 0.001 2426 chr10 72513635 72513635 C A rs12774070 ADAMTS14 Nonsynonymous SNV L937M 0.272 0.263 0.238 90 319 101 0.231 70 40 13 9 10 24.6 2427 chr1 53553754 53553754 T C rs1288401 SLC1A7 Nonsynonymous SNV Q596R 0.694 0.727 0.636 259 815 279 0.664 187 294 103 61 90 13.54 2428 chr10 90530660 90530660 C A rs10788611 LIPN Nonsynonymous SNV T244N 0.369 0.357 0.384 131 433 137 0.336 113 82 33 23 22 6.834 2429 chr10 7242441 7242441 G A rs41306403 SFMBT2 Nonsynonymous SNV P498L 0.037 0.039 0.02 8 43 15 0.021 6 1 0 0 0 4.881 2430 chr1 53558270 53558270 A G rs1288406 SLC1A7 Synonymous SNV R257R 0.802 0.818 0.759 297 941 314 0.762 223 378 130 83 114 0.443 2431 chr10 63212885 63212885 G T rs181800713 TMEM26-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 2432 chr10 90572993 90572993 C T rs368758084 LIPM Synonymous SNV N135N 0 0 0.01 0 0 0 0 3 0 0 0 0 10.62 2433 chr1 53676448 53676448 G A rs1799821 CPT2 Nonsynonymous SNV V368I 0.445 0.464 0.466 178 523 178 0.456 137 122 44 32 38 Benign 0.002 2434 chr10 70775959 70775959 C T rs35893997 KIFBP Synonymous SNV A551A 0.112 0.122 0.122 43 131 47 0.11 36 9 3 5 2 Benign 13.36 2435 chr10 90771829 90771829 T C rs2234978 FAS Synonymous SNV T193T 0.711 0.747 0.68 272 835 287 0.697 200 296 107 70 100 Benign 0.018 2436 chr1 46500613 46500613 T C rs17855317 MAST2 Synonymous SNV T1423T 0.226 0.219 0.269 96 265 84 0.246 79 22 10 11 17 1.715 2437 chr10 72520259 72520259 C T rs61573157 ADAMTS14 Nonsynonymous SNV P1108S 0.125 0.128 0.078 47 147 49 0.121 23 9 3 0 2 0.054 2438 chr10 90966546 90966546 C T rs4078488 CH25H Synonymous SNV A168A 0.112 0.12 0.112 22 132 46 0.056 33 8 1 2 0 20.5 2439 chr1 53712727 53712727 C T rs5174 LRP8 Nonsynonymous SNV R689Q 0.268 0.279 0.303 113 315 107 0.29 89 47 12 11 17 risk factor 34 2440 chr10 90966996 90966996 C G rs10887932 CH25H Synonymous SNV L18L 0.112 0.112 0.119 21 131 43 0.054 35 8 0 2 0 14.4 2441 chr10 91007360 91007360 T G rs1051338 LIPA Nonsynonymous SNV T16P 0.318 0.354 0.259 88 373 136 0.226 76 65 20 10 12 Benign 21.8 2442 chr1 53716416 53716416 G A rs3737983 LRP8 Synonymous SNV D670D 0.284 0.294 0.327 122 334 113 0.313 96 54 16 14 20 11.42 2443 chr10 91066075 91066075 A G rs2070845 IFIT2 Nonsynonymous SNV K121R 0.266 0.266 0.259 100 312 102 0.256 76 35 15 5 14 0.42 2444 chr10 71164655 71164655 C T rs2229170 TACR2 Nonsynonymous SNV R375H 0.185 0.141 0.146 69 217 54 0.177 43 18 4 4 5 14.88 2445 chr1 53732315 53732315 G T rs2297660 LRP8 Synonymous SNV G249G 0.274 0.292 0.313 118 322 112 0.303 92 49 15 12 18 9.03 2446 chr10 72293713 72293713 C T rs12764399 PALD1 Synonymous SNV H302H 0.172 0.182 0.146 71 202 70 0.182 43 18 8 4 8 8.71 2447 chr10 91066460 91066460 T A rs954439 IFIT2 Synonymous SNV V249V 0.537 0.56 0.551 195 631 215 0.5 162 161 63 45 50 6.192 2448 chr10 70645454 70645454 C G rs187810707 STOX1 Synonymous SNV T634T 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 0.647 2449 chr1 53792651 53792651 A C rs3820198 LRP8 Nonsynonymous SNV D46E 0.389 0.422 0.429 138 457 162 0.354 126 90 30 23 21 0.014 2450 chr1 46659022 46659022 G A POMGNT1 Synonymous SNV G333G 0.004 0.01 0 6 5 4 0.015 0 0 0 0 0 9.837 2451 chr10 91066769 91066769 C A rs1727 IFIT2 Nonsynonymous SNV D352E 0.783 0.818 0.81 319 919 314 0.818 238 353 130 97 129 13.6 2452 chr10 72536936 72536936 A G rs2254433 TBATA Synonymous SNV A222A 0.235 0.25 0.316 95 276 96 0.244 93 29 14 13 18 Uncertain significance 0.006 2453 chr1 53793511 53793511 T C rs4926972 LRP8 Nonsynonymous SNV Q25R 0.275 0.245 0.211 93 323 94 0.238 62 70 16 9 18 0.001 2454 chr10 91067047 91067047 A G rs138979563 IFIT2 Nonsynonymous SNV K445R 0.022 0.005 0.014 4 26 2 0.01 4 1 0 0 0 5.865 2455 chr1 54065778 54065778 C T rs12723437 GLIS1 Nonsynonymous SNV D145N 0.983 0.969 0 381 1154 372 0.977 0 568 180 0 187 13.59 2456 chr10 91099630 91099630 T C rs3780878 IFIT3 Synonymous SNV S406S 0.244 0.263 0.235 97 286 101 0.249 69 28 16 5 12 2.639 2457 chr10 73044580 73044580 G A rs12770025 UNC5B Synonymous SNV A136A 0.671 0.68 0.673 290 788 261 0.744 198 269 92 69 106 13.61 2458 chr1 54065831 54065831 G T rs12723875 GLIS1 Nonsynonymous SNV P127Q 0.983 0.969 0 381 1154 372 0.977 0 568 180 0 187 5.745 2459 chr10 91143529 91143529 T A rs304494 IFIT1B Synonymous SNV G153G 0.566 0.589 0.565 219 665 226 0.562 166 187 62 50 57 4.287 2460 chr1 54065924 54065924 G A rs12723911 GLIS1 Nonsynonymous SNV P96L 0.983 0.969 0 381 1154 372 0.977 0 568 180 0 187 17.66 2461 chr10 73051388 73051388 T C rs3740460 UNC5B Synonymous SNV D487D 0.099 0.094 0.116 31 116 36 0.079 34 3 2 2 0 0.043 2462 chr10 91162497 91162497 A G rs303211 IFIT1 Synonymous SNV K155K 0.943 0.956 0.952 370 1107 367 0.949 280 521 176 134 177 0.051 2463 chr1 54605318 54605318 - G rs3841798 CDCP2 Frameshift insertion M409Hfs*45 0.27 0.227 0.19 118 317 87 0.303 56 48 10 11 18 2464 chr10 72503344 72503344 G A rs10999502 ADAMTS14 Synonymous SNV T655T 0.18 0.182 0.228 95 211 70 0.244 67 13 9 6 17 14.15 2465 chr10 91178000 91178000 C T rs304448 IFIT5 Synonymous SNV Y348Y 0.574 0.612 0.578 223 674 235 0.572 170 194 66 50 57 8.593 2466 chr1 54605319 54605319 - C rs36013100 CDCP2 Frameshift insertion M409Hfs*45 0.554 0.596 0.575 203 650 229 0.521 169 185 77 50 51 2467 chr10 70863705 70863705 C T rs138154045 SRGN Synonymous SNV S46S 0.006 0.01 0.003 5 7 4 0.013 1 0 1 0 0 Benign 15.13 2468 chr10 72517830 72517830 G A rs10999516 ADAMTS14 Nonsynonymous SNV S1017N 0.124 0.138 0.153 65 146 53 0.167 45 6 6 3 7 20.8 2469 chr10 91352966 91352966 G A rs2296616 PANK1 Synonymous SNV C249C 0.526 0.581 0.497 198 618 223 0.508 146 159 64 35 48 8.779 2470 chr1 54606804 54606804 C T rs3766465 CDCP2 Nonsynonymous SNV G244R 0.845 0.844 0.844 330 992 324 0.846 248 422 140 102 139 28.4 2471 chr10 72604263 72604263 G T rs12770335 SGPL1 Nonsynonymous SNV V21L 0.123 0.13 0.105 49 144 50 0.126 31 15 2 3 2 14.75 2472 chr1 47016761 47016761 C T rs61997191 KNCN Nonsynonymous SNV V43I 0.049 0.047 0.068 17 57 18 0.044 20 1 0 0 1 0.366 2473 chr10 91479211 91479211 G T rs17484219 KIF20B Nonsynonymous SNV E490D 0.254 0.203 0.187 106 298 78 0.272 55 48 11 4 13 23.3 2474 chr10 72518009 72518009 A G rs4747096 ADAMTS14 Nonsynonymous SNV E1049G 0.124 0.138 0.153 66 146 53 0.169 45 6 6 3 7 5.798 2475 chr10 71168709 71168717 GCACCGTGC - rs746711930 TACR2 H235_A237del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2476 chr1 54607051 54607051 A G rs671103 CDCP2 Synonymous SNV Y161Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.043 2477 chr10 72614524 72614524 A G rs11597050 SGPL1 Synonymous SNV K107K 0.106 0.078 0.078 37 125 30 0.095 23 3 1 0 1 2.415 2478 chr10 91498127 91498127 T C rs1886996 KIF20B Nonsynonymous SNV C1177R 0.704 0.737 0.602 277 826 283 0.71 177 294 97 59 96 0.003 2479 chr10 71244899 71244899 C T rs762479514 TSPAN15 Synonymous SNV F95F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.8 2480 chr1 54681920 54681920 G C rs13571 MRPL37 Nonsynonymous SNV C366S 0.809 0.844 0.789 333 950 324 0.854 232 383 140 89 144 0.023 2481 chr10 91522548 91522548 A G rs34354493 KIF20B Nonsynonymous SNV K1649E 0.277 0.214 0.19 112 325 82 0.287 56 47 11 4 13 32 2482 chr1 54690867 54690867 G A rs56802641 MRPL37 Nonsynonymous SNV G422S 0.06 0.047 0.044 23 70 18 0.059 13 5 1 0 0 20.6 2483 chr10 71332301 71332301 C T rs41277236 NEUROG3 Nonsynonymous SNV G167R 0.082 0.086 0.075 37 96 33 0.095 22 4 1 1 0 Benign 32 2484 chr10 70520907 70520907 A G rs61734872 CCAR1 Synonymous SNV E673E 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 8.768 2485 chr10 72631626 72631626 C T rs865832 SGPL1 Synonymous SNV V314V 0.207 0.216 0.194 82 243 83 0.21 57 27 8 7 5 10.34 2486 chr10 93170250 93170250 C G rs7081569 HECTD2 Nonsynonymous SNV P19A 0.998 0.995 0.745 387 1172 382 0.992 219 586 191 109 193 3.811 2487 chr1 54690954 54690954 T C rs3088379 MRPL37 Nonsynonymous SNV F451L 0.38 0.346 0.405 154 446 133 0.395 119 74 25 27 32 0.002 2488 chr10 72014779 72014779 G A rs1999624 NPFFR1 Synonymous SNV H409H 0.07 0.068 0.061 33 82 26 0.085 18 5 1 1 1 0.293 2489 chr1 54704629 54704629 C T rs2274664 SSBP3-AS1 0.189 0.167 0.007 91 222 64 0.233 2 95 27 1 37 0.302 2490 chr10 93390149 93390149 C T rs1044563 PPP1R3C Synonymous SNV S163S 0.078 0.096 0.065 34 91 37 0.087 19 0 1 0 3 12.56 2491 chr10 72014863 72014863 G A rs60225321 NPFFR1 Synonymous SNV S381S 0.07 0.068 0.065 33 82 26 0.085 19 5 1 1 1 7.749 2492 chr1 55075452 55075452 G A rs1368883 FAM151A Nonsynonymous SNV A416V 0.563 0.539 0.493 231 661 207 0.592 145 190 53 34 64 9.364 2493 chr10 93668110 93668110 T A rs1107947 FGFBP3 Nonsynonymous SNV E206V 0.296 0.255 0.259 108 347 98 0.277 76 47 12 10 13 6.108 2494 chr10 70646125 70646125 A G rs776908592 STOX1 Nonsynonymous SNV Y858C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.035 2495 chr1 55118566 55118566 C G rs1655520 MROH7-TTC4 0.993 0.997 0.997 388 1166 383 0.995 293 579 191 146 193 3.504 2496 chr10 93841227 93841227 A G rs2676811 CPEB3 Synonymous SNV Y559Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.636 2497 chr10 93999850 93999850 A G rs3824734 CPEB3 Synonymous SNV P86P 0.71 0.703 0.639 283 834 270 0.726 188 296 95 62 105 0.904 2498 chr1 55119144 55119144 A G rs11206407 MROH7 Nonsynonymous SNV H182R 0.366 0.328 0.33 148 430 126 0.379 97 80 24 12 31 0.005 2499 chr10 72164178 72164178 C T rs201442499 EIF4EBP2 Synonymous SNV S7S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 20.8 2500 chr1 47280747 47280748 AT - rs3215983 CYP4B1 D132Gfs*3 0.125 0.135 0.153 54 147 52 0.138 45 6 6 3 1 2501 chr10 71160828 71160828 C T rs14006 HK1 Synonymous SNV S865S 0.004 0.005 0.017 3 5 2 0.008 5 0 0 1 0 Benign 17.44 2502 chr10 94594565 94594565 G A rs2490741 EXOC6 Nonsynonymous SNV V24I 0.729 0.674 0.731 275 856 259 0.705 215 319 90 80 93 0.684 2503 chr1 47280859 47280859 G A rs2297810 CYP4B1 Nonsynonymous SNV M169I 0.142 0.143 0.156 56 167 55 0.144 46 10 6 3 1 21.1 2504 chr10 71164595 71164595 T C rs58692969 TACR2 Nonsynonymous SNV H395R 0.004 0.005 0.017 3 5 2 0.008 5 0 0 1 0 11.17 2505 chr1 55119289 55119289 G C rs9332417 MROH7 Synonymous SNV L230L 0.569 0.57 0.561 246 668 219 0.631 165 192 60 45 74 0.94 2506 chr10 94695617 94695617 C T rs1326331 EXOC6 Nonsynonymous SNV T396I 0.701 0.721 0.697 267 823 277 0.685 205 287 103 70 91 15.02 2507 chr1 55119515 55119515 T G rs1655519 MROH7 Nonsynonymous SNV Y306D 0.284 0.315 0.33 101 334 121 0.259 97 48 15 16 7 0.017 2508 chr1 47280884 47280884 C T rs4646491 CYP4B1 Nonsynonymous SNV R178C 0.124 0.135 0.153 54 146 52 0.138 45 6 6 3 1 20.1 2509 chr10 71164692 71164692 T C rs57900755 TACR2 Nonsynonymous SNV T363A 0.004 0.005 0.017 3 5 2 0.008 5 0 0 1 0 0.002 2510 chr10 95072906 95072906 T C rs787666 MYOF Synonymous SNV R1907R 0.847 0.862 0.844 331 994 331 0.849 248 422 143 102 141 2.818 2511 chr10 72289701 72289701 G A rs2275059 PALD1 Synonymous SNV V115V 0.168 0.172 0.177 72 197 66 0.185 52 15 6 8 7 11.12 2512 chr1 55119546 55119546 A G rs1655518 MROH7 Nonsynonymous SNV E316G 0.993 0.997 0.997 388 1166 383 0.995 293 579 191 146 193 0.005 2513 chr1 47282772 47282772 C T rs2297809 CYP4B1 Nonsynonymous SNV R213C 0.125 0.135 0.16 53 147 52 0.136 47 6 6 4 1 29.3 2514 chr10 95107428 95107428 G A rs11187393 MYOF Nonsynonymous SNV R1386C 0.054 0.07 0.078 21 63 27 0.054 23 2 0 1 1 33 2515 chr10 72307101 72307101 C T rs3740447 PALD1 Nonsynonymous SNV R721C 0.161 0.169 0.17 73 189 65 0.187 50 15 6 8 7 25.9 2516 chr1 55119702 55119702 T C rs189525766 MROH7 Nonsynonymous SNV V368A 0.014 0.016 0.007 10 16 6 0.026 2 0 0 0 0 8.646 2517 chr10 95148835 95148835 T C rs17108594 MYOF Synonymous SNV R498R 0.063 0.083 0.078 26 74 32 0.067 23 4 1 0 0 0.874 2518 chr10 71168766 71168766 C G rs79030584 TACR2 Nonsynonymous SNV S218T 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 13.75 2519 chr10 95163809 95163809 G T rs12262721 MYOF Synonymous SNV R272R 0.065 0.052 0.078 16 76 20 0.041 23 1 1 1 1 12.97 2520 chr1 55136529 55136529 T C rs480963 MROH7 Nonsynonymous SNV V27A 0.268 0.302 0.265 91 315 116 0.233 78 43 17 14 9 24 2521 chr10 95262890 95262890 T A rs61865305 CEP55 Synonymous SNV A68A 0.079 0.065 0.065 17 93 25 0.044 19 4 0 1 0 13.49 2522 chr10 71176012 71176012 A G rs5030920 TACR2 Nonsynonymous SNV I23T 0.236 0.237 0.255 86 277 91 0.221 75 25 12 16 8 0.046 2523 chr10 95262981 95262981 A G rs7080916 CEP55 Nonsynonymous SNV T99A 0.999 1 0.986 389 1173 384 0.997 290 586 192 143 194 0.002 2524 chr1 55139741 55139741 A G rs570218 MROH7 Nonsynonymous SNV H136R 0.81 0.729 0.816 294 951 280 0.754 240 381 103 99 110 9.639 2525 chr10 70191631 70191631 C T rs61855090 DNA2 Synonymous SNV T657T 0.045 0.029 0.058 18 53 11 0.046 17 1 0 0 0 Benign 16.25 2526 chr10 95278683 95278683 G A rs75139274 CEP55 Nonsynonymous SNV R348K 0.072 0.089 0.095 32 84 34 0.082 28 2 1 1 2 21.3 2527 chr10 73199595 73199595 C T rs7902757 CDH23 Nonsynonymous SNV R3C 0.059 0.047 0.014 16 69 18 0.041 4 1 0 0 0 Benign 18.96 2528 chr10 70225504 70225504 G T rs3758626 DNA2 Synonymous SNV A169A 0.198 0.198 0.228 86 232 76 0.221 67 26 6 10 7 Benign 6.813 2529 chr1 55152104 55152104 T C rs72669947 MROH7 Synonymous SNV S416S 0.01 0.021 0 4 12 8 0.01 0 0 0 0 0 0.596 2530 chr1 48240865 48240865 G A rs189090484 TRABD2B Synonymous SNV D442D 0.009 0.013 0 4 11 5 0.01 0 0 0 0 0 11.14 2531 chr10 70227964 70227964 C T rs10998205 DNA2 Synonymous SNV L119L 0.074 0.052 0.085 39 87 20 0.1 25 4 0 4 3 Benign 11.97 2532 chr1 55166842 55166842 C T rs1065173 MROH7 Synonymous SNV P562P 0.354 0.328 0.316 141 416 126 0.362 93 71 17 18 28 13.01 2533 chr10 95279506 95279506 A T rs2293277 CEP55 Nonsynonymous SNV H378L 0.743 0.727 0.738 289 872 279 0.741 217 324 100 78 110 24.6 2534 chr10 71391538 71391538 T C rs1381932 FAM241B Synonymous SNV D13D 0.172 0.193 0.187 82 202 74 0.21 55 13 4 6 7 8.402 2535 chr1 55167773 55167773 T A rs646356 MROH7 Nonsynonymous SNV V617D 0.876 0.831 0.867 338 1029 319 0.867 255 451 133 110 147 2.65 2536 chr10 95326676 95326676 C T rs61866610 FFAR4 Nonsynonymous SNV R67C 0.083 0.099 0.065 28 98 38 0.072 19 4 1 0 1 27.9 2537 chr1 48697751 48697751 C T rs61997212 SLC5A9 Synonymous SNV S275S 0.2 0.188 0.218 82 235 72 0.21 64 23 5 6 8 16.23 2538 chr10 73434888 73434888 G C rs1227049 CDH23 Nonsynonymous SNV G490A 0.158 0.167 0.177 73 186 64 0.187 52 14 4 3 5 Benign 27.1 2539 chr10 70332862 70332862 C T rs12221107 TET1 Nonsynonymous SNV A256V 0.042 0.031 0.031 28 49 12 0.072 9 1 0 0 2 15.68 2540 chr1 55182300 55182300 T A rs1147990 TTC4 Nonsynonymous SNV S47T 0.578 0.49 0.568 220 678 188 0.564 167 201 45 48 67 42 2541 chr10 73550969 73550969 G A rs10466026 CDH23 Nonsynonymous SNV E2044K 0.196 0.216 0.224 81 230 83 0.208 66 19 8 5 6 Benign 16.06 2542 chr1 55247097 55247097 G A rs2286203 TTC22 Nonsynonymous SNV A510V 0.189 0.216 0.259 75 222 83 0.192 76 25 11 12 10 20.7 2543 chr10 95372734 95372734 G A rs1131978 PDE6C Synonymous SNV L84L 0.214 0.229 0.221 98 251 88 0.251 65 31 11 5 9 Benign 7.467 2544 chr10 95372764 95372764 C T rs12781149 PDE6C Synonymous SNV D94D 0.115 0.112 0.105 46 135 43 0.118 31 10 4 1 1 Benign 13.04 2545 chr10 70405539 70405539 A G rs16925541 TET1 Nonsynonymous SNV N1018S 0.05 0.042 0.027 30 59 16 0.077 8 3 0 0 3 0.111 2546 chr10 95381773 95381773 T A rs701865 PDE6C Nonsynonymous SNV S270T 0.372 0.346 0.371 137 437 133 0.351 109 95 22 14 26 Benign 13.18 2547 chr10 73558128 73558128 G A rs41281334 CDH23 Nonsynonymous SNV V43I 0.02 0.023 0.02 7 23 9 0.018 6 1 0 0 0 Benign 4.949 2548 chr1 55248074 55248074 A G rs12144325 TTC22 Nonsynonymous SNV L366P 0.135 0.151 0.17 55 158 58 0.141 50 9 5 5 5 29 2549 chr10 73521578 73521578 G A rs3747866 VSIR Synonymous SNV D96D 0.151 0.125 0.122 48 177 48 0.123 36 16 3 1 2 10.34 2550 chr10 71243629 71243629 A T rs62625031 TSPAN15 Nonsynonymous SNV Q93H 0.025 0.021 0.01 15 29 8 0.038 3 0 1 0 0 8.496 2551 chr10 70405541 70405541 A G rs72799515 TET1 Nonsynonymous SNV K1019E 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 16.42 2552 chr10 95389041 95389041 G A rs714550 PDE6C Synonymous SNV A366A 0.326 0.328 0.32 113 383 126 0.29 94 73 20 10 16 Benign 15.81 2553 chr1 55251689 55251689 T C rs586462 TTC22 Synonymous SNV E329E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.789 2554 chr10 73558886 73558886 G A rs4747194 CDH23 Nonsynonymous SNV R118Q 0.206 0.227 0.224 84 242 87 0.215 66 22 9 5 8 Benign 21.7 2555 chr10 95395364 95395364 C G rs3737228 PDE6C Synonymous SNV T460T 0.29 0.255 0.289 106 341 98 0.272 85 55 13 11 20 Benign 12.74 2556 chr1 51613315 51613315 G A rs549762813 C1orf185 Nonsynonymous SNV D158N 0.012 0.013 0 4 14 5 0.01 0 0 0 0 0 25.1 2557 chr1 55266600 55266600 C T rs72671847 TTC22 Synonymous SNV L79L 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 12.98 2558 chr10 95552653 95552653 T C rs1111820 LGI1 Synonymous SNV F171F 0.999 1 0.986 388 1173 384 0.995 290 586 192 144 193 0.613 2559 chr10 71905454 71905454 A G TYSND1 Nonsynonymous SNV C297R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 2560 chr10 73537978 73537978 C T rs10762480 CDH23 Synonymous SNV Y1700Y 0.181 0.19 0.207 80 213 73 0.205 61 15 7 3 9 Benign/Likely benign 13.6 2561 chr1 55277514 55277514 C T rs72671882 LEXM Synonymous SNV Y176Y 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 10.83 2562 chr10 73558952 73558952 C T rs4747195 CDH23 Nonsynonymous SNV P140L 0.198 0.216 0.224 80 232 83 0.205 66 18 8 5 6 Benign 25 2563 chr10 95791613 95791613 T C rs17109671 PLCE1 Synonymous SNV C270C 0.294 0.336 0.269 106 345 129 0.272 79 46 19 11 12 Benign 0.005 2564 chr10 95791763 95791763 G A rs17109674 PLCE1 Synonymous SNV E320E 0.262 0.307 0.245 94 308 118 0.241 72 38 15 9 10 Benign 8.132 2565 chr1 55277599 55277599 T C rs600499 LEXM Nonsynonymous SNV Y205H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.129 2566 chr10 73544086 73544086 G A rs3802711 CDH23 Nonsynonymous SNV R1804Q 0.129 0.151 0.16 59 151 58 0.151 47 7 2 1 4 Benign/Likely benign 26.4 2567 chr1 52256587 52256587 C G rs187758755 NRDC Nonsynonymous SNV E1012D 0.012 0.013 0 4 14 5 0.01 0 0 0 0 0 13.15 2568 chr10 95892129 95892129 T A rs17508082 PLCE1 Nonsynonymous SNV S161T 0.063 0.047 0.068 31 74 18 0.079 20 1 0 0 2 Benign 21.6 2569 chr10 73562744 73562744 G A rs10823849 CDH23 Synonymous SNV A284A 0.205 0.227 0.228 84 241 87 0.215 67 21 9 5 8 Benign 9.02 2570 chr1 55307501 55307501 A G rs41297871 LEXM Synonymous SNV G404G 0.28 0.286 0.279 119 329 110 0.305 82 39 17 13 19 6.411 2571 chr10 73574843 73574843 G A rs2290021 CDH23 Synonymous SNV T153T 0.049 0.068 0.054 16 58 26 0.041 16 1 0 1 1 Benign/Likely benign 10.22 2572 chr10 70645107 70645107 C T rs10509304 STOX1 Synonymous SNV L519L 0.028 0.018 0.017 8 33 7 0.021 5 0 0 0 0 6.827 2573 chr10 95931087 95931087 G T rs17417407 PLCE1 Nonsynonymous SNV R240L 0.211 0.177 0.269 84 248 68 0.215 79 27 3 8 4 Benign 28.8 2574 chr1 55457710 55457710 G A rs2500326 TMEM61 Synonymous SNV A189A 0.817 0.839 0.806 310 959 322 0.795 237 389 133 95 125 8.559 2575 chr1 55523033 55523033 A G rs509504 PCSK9 Synonymous SNV Q342Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Conflicting interpretations of pathogenicity 8.161 2576 chr10 96039597 96039597 G C rs2274224 PLCE1 Nonsynonymous SNV R1267P 0.514 0.536 0.507 184 604 206 0.472 149 157 63 44 41 Benign 13.37 2577 chr10 75523634 75523634 A G rs35528438 SEC24C Nonsynonymous SNV I374V 0.048 0.073 0.034 23 56 28 0.059 10 2 1 0 2 17.81 2578 chr10 70645697 70645697 C T rs10509306 STOX1 Synonymous SNV N715N 0.092 0.094 0.071 44 108 36 0.113 21 3 4 1 3 6.357 2579 chr1 55524197 55524197 A G rs540796 PCSK9 Synonymous SNV V460V 0.823 0.802 0.612 329 966 308 0.844 180 399 121 83 136 Benign 8.979 2580 chr1 52498370 52498370 C T rs2809917 KTI12 Synonymous SNV X355X 0.11 0.112 0.143 47 129 43 0.121 42 6 3 5 2 11.02 2581 chr10 96058298 96058298 C T rs3765524 PLCE1 Nonsynonymous SNV T1469I 0.417 0.414 0.439 145 489 159 0.372 129 93 32 30 27 Benign 13.94 2582 chr10 75558121 75558121 G A rs370668672 ZSWIM8 Synonymous SNV A1357A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.76 2583 chr1 55524237 55524237 G A rs562556 PCSK9 Nonsynonymous SNV V474I 0.823 0.802 0.534 329 966 308 0.844 157 399 121 74 136 Benign/Likely benign 0.004 2584 chr1 52498861 52498861 A T rs2783175 KTI12 Nonsynonymous SNV D191E 0.033 0.052 0.054 18 39 20 0.046 16 0 1 0 0 0.001 2585 chr10 73544689 73544689 C T rs142131750 CDH23 Synonymous SNV D1848D 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.82 2586 chr10 96066341 96066341 A G rs2274223 PLCE1 Nonsynonymous SNV H1619R 0.419 0.401 0.446 144 492 154 0.369 131 94 31 31 27 Benign 4.782 2587 chr1 55529187 55529187 G A rs505151 PCSK9 Nonsynonymous SNV G670E 0.974 0.969 0.959 379 1143 372 0.972 282 556 181 136 185 Benign/Likely benign 0.003 2588 chr1 53068093 53068093 G T rs11205977 GPX7 Synonymous SNV A4A 0.146 0.138 0.075 71 171 53 0.182 22 10 2 1 9 10.8 2589 chr10 73569749 73569749 C T rs11000009 CDH23 Synonymous SNV P725P 0.217 0.208 0.214 60 255 80 0.154 63 22 9 10 3 Benign/Likely benign 16.22 2590 chr10 96104665 96104665 T G rs3758526 NOC3L Nonsynonymous SNV E472A 0.096 0.099 0.119 54 113 38 0.138 35 6 4 2 2 24.4 2591 chr1 55541174 55541174 A G rs487230 USP24 Nonsynonymous SNV V2468A 0.777 0.76 0.813 314 912 292 0.805 239 356 109 99 123 13.9 2592 chr10 96163039 96163039 C G rs2477534 TBC1D12 Synonymous SNV P223P 0.505 0.466 0.412 213 593 179 0.546 121 209 63 38 77 11.36 2593 chr10 96493058 96493058 C T rs1126545 CYP2C18 Nonsynonymous SNV T326M 0.124 0.125 0.109 48 145 48 0.123 32 9 5 2 3 23 2594 chr1 55638075 55638075 G A rs1165222 USP24 Nonsynonymous SNV T226I 0.83 0.813 0.881 333 974 312 0.854 259 405 125 114 140 13.15 2595 chr10 96534922 96534922 G C rs17878459 CYP2C19 Nonsynonymous SNV E92D 0.022 0.01 0.034 8 26 4 0.021 10 0 0 0 0 0.026 2596 chr1 53442376 53442376 A G rs41294530 SCP2 Synonymous SNV E159E 0.052 0.055 0.044 15 61 21 0.038 13 3 0 1 0 Benign 8.897 2597 chr1 57340727 57340727 C A rs652785 C8A Nonsynonymous SNV Q93K 0.421 0.448 0.439 174 494 172 0.446 129 110 40 33 41 Benign 0.096 2598 chr10 75565387 75565387 C T rs772090843 NDST2 Synonymous SNV K568K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 2599 chr1 53453714 53453714 G T rs7538935 SCP2 Synonymous SNV T285T 0.08 0.07 0.116 32 94 27 0.082 34 5 1 2 1 Benign 6.834 2600 chr10 96602622 96602622 C T rs3758580 CYP2C19 Synonymous SNV V330V 0.124 0.125 0.122 48 145 48 0.123 36 9 5 2 3 7.62 2601 chr1 57378149 57378149 G T rs1620075 C8A Nonsynonymous SNV R485L 0.046 0.057 0.068 22 54 22 0.056 20 1 1 2 0 Benign 16.83 2602 chr1 53535804 53535804 G A rs150801699 PODN Nonsynonymous SNV D93N 0.012 0.013 0 4 14 5 0.01 0 0 0 0 0 15.31 2603 chr10 96818119 96818119 G C rs1058930 CYP2C8 Nonsynonymous SNV I162M 0.06 0.047 0.051 26 71 18 0.067 15 1 1 0 0 Benign 19.5 2604 chr10 7618501 7618501 A G rs2275068 ITIH5 Synonymous SNV D417D 0.468 0.44 0.493 212 549 169 0.544 145 127 36 33 58 0.215 2605 chr10 73848075 73848075 C T rs2306324 SPOCK2 Synonymous SNV P4P 0.047 0.042 0.048 23 55 16 0.059 14 0 1 0 2 15.78 2606 chr1 57378150 57378150 C T rs1620073 C8A Synonymous SNV R485R 0.046 0.057 0.071 22 54 22 0.056 21 1 1 2 0 Benign 12.09 2607 chr10 7618686 7618686 T G rs2275069 ITIH5 Nonsynonymous SNV T356P 0.465 0.438 0.486 211 546 168 0.541 143 124 36 32 58 0.002 2608 chr10 96954298 96954298 A G rs591157 ACSM6 Nonsynonymous SNV E19G 0.573 0.602 0.65 229 673 231 0.587 191 198 66 64 68 1.46 2609 chr10 74890583 74890583 - C rs11381190 NUDT13 Stop gain K241* 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 2610 chr1 53537256 53537256 G A rs145022506 PODN Nonsynonymous SNV R121Q 0.012 0.013 0 4 14 5 0.01 0 0 0 0 0 16.79 2611 chr10 74897816 74897816 C T rs2271905 ECD Synonymous SNV E435E 0.052 0.065 0.041 25 61 25 0.064 12 2 1 1 2 15.69 2612 chr1 57378198 57378198 T C rs1754533 C8A Synonymous SNV P501P 0.046 0.057 0.071 22 54 22 0.056 21 1 1 2 0 Benign 5.012 2613 chr10 96954360 96954360 T A rs11188225 ACSM6 Nonsynonymous SNV C40S 0.305 0.331 0.364 149 358 127 0.382 107 53 20 23 32 0.002 2614 chr10 74899134 74899134 C G rs3736518 ECD Nonsynonymous SNV E409Q 0.06 0.068 0.065 25 71 26 0.064 19 2 1 1 2 13.27 2615 chr1 57383315 57383315 G C rs1342440 C8A Nonsynonymous SNV E561Q 0.046 0.057 0.071 22 54 22 0.056 21 1 1 2 0 Benign 14.6 2616 chr10 76781905 76781905 - GAA rs531782676 KAT6B E323_N324insE 0.017 0.005 0.014 3 20 2 0.008 4 0 0 0 0 2617 chr10 97023630 97023630 T C rs2296961 PDLIM1 Nonsynonymous SNV N175S 0.289 0.289 0.323 134 339 111 0.344 95 48 17 15 28 0.003 2618 chr10 74923562 74923562 C T rs3812619 ECD Nonsynonymous SNV R45Q 0.06 0.068 0.065 25 70 26 0.064 19 2 1 1 2 12.67 2619 chr10 77161100 77161100 - CCGCCTCCGCCT rs762649774 ZNF503 G27_A28insGGGG 0.063 0.081 0.044 27 74 31 0.069 13 3 1 0 2 2620 chr1 53544578 53544578 T C rs11206088 PODN Synonymous SNV L466L 0.204 0.18 0.235 98 239 69 0.251 69 25 7 7 13 0.123 2621 chr1 57422484 57422484 C T rs1013579 C8B Nonsynonymous SNV G117R 0.951 0.951 0.959 357 1117 365 0.915 282 531 173 135 164 14.76 2622 chr10 7749183 7749183 C T rs73621253 ITIH2 Nonsynonymous SNV S60L 0.096 0.073 0.085 21 113 28 0.054 25 6 0 2 0 19.33 2623 chr10 97141523 97141523 G A rs2274490 SORBS1 Synonymous SNV D314D 0.61 0.62 0.633 257 716 238 0.659 186 231 78 57 80 7.045 2624 chr10 75006804 75006804 A G rs35302968 DNAJC9 Synonymous SNV G48G 0.056 0.057 0.058 25 66 22 0.064 17 2 1 1 2 9.015 2625 chr1 59042001 59042001 G A rs12121124 TACSTD2 Synonymous SNV G276G 0.084 0.07 0.092 31 99 27 0.079 27 5 2 2 1 Benign 10.91 2626 chr10 97143826 97143826 T C rs35808802 SORBS1 Nonsynonymous SNV Y275C 0.037 0.039 0.051 15 44 15 0.038 15 1 1 0 0 9.934 2627 chr10 7759679 7759679 G A rs35076349 ITIH2 Synonymous SNV V186V 0.082 0.07 0.065 20 96 27 0.051 19 6 0 1 0 11.8 2628 chr10 75011761 75011761 A G rs7905009 MRPS16 Nonsynonymous SNV Y12H 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 Likely benign 25.2 2629 chr1 59127086 59127086 G A rs7523134 MYSM1 Synonymous SNV L754L 0.298 0.331 0.435 137 350 127 0.351 128 52 20 29 25 5.149 2630 chr1 53544652 53544652 A G rs62000361 PODN Synonymous SNV R490R 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 4.208 2631 chr10 97192324 97192324 A G rs943542 SORBS1 Nonsynonymous SNV L29P 0.998 1 0.993 387 1172 384 0.992 292 585 192 145 192 15.32 2632 chr1 59787350 59787350 T G rs835409 FGGY Nonsynonymous SNV N43K 0.343 0.372 0.282 140 403 143 0.359 83 66 32 12 24 10.47 2633 chr10 75035257 75035257 T C rs4294502 CFAP70 Nonsynonymous SNV N752D 0.061 0.073 0.061 27 72 28 0.069 18 2 1 1 2 13.86 2634 chr10 73511040 73511040 G A rs114278565 VSIR Synonymous SNV V302V 0.039 0.044 0.034 20 46 17 0.051 10 1 0 0 0 7.71 2635 chr10 77807027 77807027 T C rs1898071 LRMDA Synonymous SNV L94L 0.468 0.482 0.381 187 549 185 0.479 112 124 49 21 52 Benign 5.795 2636 chr1 53556625 53556625 C T rs74084148 SLC1A7 Synonymous SNV P354P 0.041 0.039 0.071 18 48 15 0.046 21 0 1 0 2 6.608 2637 chr10 97447373 97447373 A T rs10786229 TCTN3 Synonymous SNV T201T 0.356 0.383 0.378 148 418 147 0.379 111 82 33 22 30 Benign 0.036 2638 chr1 59844471 59844471 G A rs835435 FGGY Synonymous SNV P84P 0.371 0.409 0.299 155 435 157 0.397 88 77 36 12 33 8.753 2639 chr10 78084184 78084184 C T rs35349706 LRMDA Nonsynonymous SNV S153F 0.029 0.018 0.024 9 34 7 0.023 7 0 0 0 0 Benign 22 2640 chr10 97698370 97698370 C T rs4918979 CC2D2B Synonymous SNV L194L 0.555 0.565 0.548 227 652 217 0.582 161 169 60 50 64 15.56 2641 chr10 75037980 75037980 T C rs7899308 CFAP70 Synonymous SNV Q663Q 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 0.003 2642 chr1 60019853 60019853 C T rs62623594 FGGY Nonsynonymous SNV T198M 0.042 0.06 0.017 19 49 23 0.049 5 0 2 0 1 34 2643 chr10 97748040 97748040 G A rs7900838 CC2D2B Nonsynonymous SNV V774I 0.618 0.62 0.582 228 726 238 0.585 171 228 68 50 65 6.303 2644 chr10 75071618 75071618 G A rs78334417 CFAP70 Nonsynonymous SNV P258S 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 0.002 2645 chr10 97990583 97990583 A G rs727852 BLNK Synonymous SNV P57P 0.664 0.656 0.646 250 779 252 0.641 190 254 82 61 82 Benign 0.179 2646 chr1 53679057 53679057 G A rs77565483 CPT2 Synonymous SNV T589T 0.008 0.018 0.014 4 9 7 0.01 4 0 0 0 0 Benign 10.1 2647 chr10 79570873 79570873 G T rs2289310 DLG5 Nonsynonymous SNV P1481Q 0.056 0.034 0.058 20 66 13 0.051 17 2 0 2 0 9.008 2648 chr10 98078127 98078127 C T rs7081385 DNTT Synonymous SNV I74I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.32 2649 chr10 75147454 75147454 T C rs61732390 ANXA7 Nonsynonymous SNV Y169C 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 28.5 2650 chr1 60370651 60370651 G A rs753516471 CYP2J2 Synonymous SNV Y361Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.098 2651 chr10 98078239 98078239 A G rs6584066 DNTT Nonsynonymous SNV R112G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.041 2652 chr1 60466814 60466814 T C rs626251 C1orf87 Nonsynonymous SNV K403E 0.438 0.492 0.486 183 514 189 0.469 143 127 52 33 50 0.007 2653 chr1 54060016 54060016 G C rs35227000 GLIS1 Nonsynonymous SNV A187G 0.305 0.313 0.333 137 358 120 0.351 98 50 24 22 23 5.197 2654 chr10 79580976 79580976 G A rs41274586 DLG5 Nonsynonymous SNV P1089L 0.014 0.005 0.01 3 16 2 0.008 3 0 0 0 0 22.6 2655 chr10 73434906 73434906 G A rs10999947 CDH23 Nonsynonymous SNV S496N 0.24 0.25 0.235 86 282 96 0.221 69 37 14 8 9 Benign 10.4 2656 chr10 98133483 98133483 G A rs61741039 TLL2 Synonymous SNV A844A 0.097 0.104 0.116 61 114 40 0.156 34 2 2 2 4 11.62 2657 chr10 75184323 75184323 G A rs61738877 MSS51 Synonymous SNV D457D 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 4.05 2658 chr1 61869783 61869783 G A rs2236059 NFIA Synonymous SNV P361P 0.329 0.318 0.296 142 386 122 0.364 87 69 17 10 29 4.432 2659 chr10 75184463 75184463 A C rs61753915 MSS51 Nonsynonymous SNV S411A 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 7.518 2660 chr10 98144384 98144384 G A rs60018665 TLL2 Synonymous SNV N718N 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 10.8 2661 chr1 54060248 54060248 T C rs4307514 GLIS1 Nonsynonymous SNV T110A 0.305 0.31 0.313 136 358 119 0.349 92 50 24 20 23 0.004 2662 chr1 62232031 62232031 C T rs1286835 PATJ Synonymous SNV I90I 0.963 0.948 0.963 382 1131 364 0.979 283 547 172 137 187 6.421 2663 chr10 98287792 98287792 G T rs12779720 TM9SF3 Synonymous SNV R513R 0.205 0.193 0.231 95 241 74 0.244 68 21 6 7 12 13.36 2664 chr10 98369536 98369536 A G rs3748236 PIK3AP1 Synonymous SNV S701S 0.226 0.206 0.241 106 265 79 0.272 71 26 9 8 18 0.28 2665 chr1 62253483 62253483 G A rs3762321 PATJ Nonsynonymous SNV G303R 0.074 0.109 0.048 42 87 42 0.108 14 1 3 0 3 32 2666 chr10 98380137 98380137 T C rs12784975 PIK3AP1 Nonsynonymous SNV K638R 0.221 0.206 0.245 100 260 79 0.256 72 29 10 8 17 9.851 2667 chr1 54060266 54060266 G A GLIS1 Nonsynonymous SNV L104F 0.001 0.008 0 4 1 3 0.01 0 0 0 0 0 23.8 2668 chr10 75185685 75185685 - G MSS51 Frameshift insertion L318Pfs*9 0 0 0 0 0 0 0 0 0 0 0 0 2669 chr10 75185748 75185748 C T rs61744605 MSS51 Nonsynonymous SNV R297H 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 16.35 2670 chr10 79576772 79576772 G A rs35837544 DLG5 Synonymous SNV S1289S 0.083 0.063 0.054 34 97 24 0.087 16 5 2 0 3 6.873 2671 chr10 73466670 73466670 C T rs56216952 CDH23 Synonymous SNV D990D 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.89 2672 chr1 62261168 62261168 A G rs7516332 PATJ Nonsynonymous SNV I400V 0.497 0.505 0.527 215 583 194 0.551 155 152 46 38 57 0.913 2673 chr10 8006798 8006798 A G rs4747647 TAF3 Nonsynonymous SNV N442S 0.613 0.622 0.544 242 720 239 0.621 160 219 71 50 77 0.01 2674 chr10 98380277 98380277 C T rs3748234 PIK3AP1 Synonymous SNV S591S 0.624 0.648 0.571 237 733 249 0.608 168 234 83 51 76 13.46 2675 chr10 98386558 98386558 G A rs4344416 PIK3AP1 Synonymous SNV L526L 0.945 0.938 0.946 363 1110 360 0.931 278 523 170 132 168 10.6 2676 chr10 75185810 75185810 A G rs61740737 MSS51 Synonymous SNV F276F 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 0.266 2677 chr1 62330080 62330080 T G rs2799627 PATJ Nonsynonymous SNV I870M 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 6.155 2678 chr10 98469693 98469693 C T rs17112076 PIK3AP1 Nonsynonymous SNV E21K 0.188 0.182 0.201 93 221 70 0.238 59 25 6 8 12 8.417 2679 chr10 8007559 8007559 G C rs10795583 TAF3 Nonsynonymous SNV V696L 0.546 0.573 0.561 221 641 220 0.567 165 237 76 54 79 12.88 2680 chr10 75265014 75265014 C T rs7083082 PPP3CB-AS1 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 8.566 2681 chr1 54359922 54359922 C T rs2294510 DIO1 Synonymous SNV L13L 0.06 0.086 0.061 34 71 33 0.087 18 3 1 0 1 10.41 2682 chr10 75265136 75265136 C T rs7083344 USP54 Nonsynonymous SNV G1310D 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 17.25 2683 chr10 98808866 98808866 C G rs2805588 SLIT1 Synonymous SNV A437A 0.997 0.997 0.993 386 1171 383 0.99 292 584 191 145 191 15.45 2684 chr1 62380270 62380270 C T rs1134766 PATJ Synonymous SNV N1168N 0.721 0.638 0.677 272 846 245 0.697 199 298 84 67 94 10.1 2685 chr10 98820528 98820528 C G rs33970910 SLIT1 Synonymous SNV G270G 0.174 0.169 0.156 67 204 65 0.172 46 15 4 3 4 12.17 2686 chr10 8007560 8007560 T C rs1244229 TAF3 Nonsynonymous SNV V696A 0.691 0.742 0.694 274 811 285 0.703 204 338 117 78 107 9.194 2687 chr1 62380298 62380298 G A rs1056513 PATJ Nonsynonymous SNV G1178S 0.604 0.576 0.551 214 709 221 0.549 162 208 62 44 54 1.885 2688 chr10 75289359 75289359 C A rs12255505 USP54 Synonymous SNV L713L 0.066 0.076 0.061 29 78 29 0.074 18 3 1 1 2 5.831 2689 chr10 79760818 79760818 A G rs35536566 POLR3A Synonymous SNV C798C 0.035 0.039 0.017 12 41 15 0.031 5 0 0 0 0 Benign 3.624 2690 chr10 99006083 99006083 G A rs13439 ARHGAP19 Synonymous SNV Y284Y 0.252 0.24 0.272 90 296 92 0.231 80 38 13 15 8 8.525 2691 chr10 79762028 79762028 G A rs16935534 POLR3A Synonymous SNV H762H 0.035 0.039 0.017 12 41 15 0.031 5 0 0 0 0 Benign 7.016 2692 chr10 99019177 99019177 A G rs2253301 ARHGAP19 Synonymous SNV H274H 0.957 0.958 0.959 373 1123 368 0.956 282 540 176 135 178 0.921 2693 chr1 62456014 62456014 G A rs1134767 PATJ Nonsynonymous SNV R1282H 0.497 0.5 0.524 180 584 192 0.462 154 142 47 44 38 2.176 2694 chr10 99129230 99129230 T C rs6584122 RRP12 Synonymous SNV A869A 0.117 0.102 0.102 38 137 39 0.097 30 8 0 3 1 2.908 2695 chr10 81107457 81107457 C T rs2233715 PPIF Synonymous SNV D51D 0.023 0.01 0.017 8 27 4 0.021 5 1 0 0 0 18.76 2696 chr10 99139140 99139140 G A rs41300217 RRP12 Synonymous SNV L470L 0.078 0.06 0.044 22 91 23 0.056 13 4 0 1 0 12.95 2697 chr1 62483599 62483599 G A rs34726576 PATJ Synonymous SNV K1313K 0.362 0.385 0.347 140 425 148 0.359 102 88 28 18 21 13.07 2698 chr10 99160965 99160965 A G rs2275091 RRP12 Synonymous SNV P8P 0.98 0.979 0.966 379 1151 376 0.972 284 566 185 137 184 15.71 2699 chr10 81205059 81205059 G A rs77237755 ZCCHC24 Synonymous SNV A46A 0.014 0.018 0.017 7 17 7 0.018 5 0 0 1 0 7.881 2700 chr1 54644859 54644859 C T rs61738851 CYB5RL Nonsynonymous SNV R157H 0.095 0.089 0.119 35 112 34 0.09 35 6 3 3 1 22.6 2701 chr1 62579823 62579823 G A rs1475563 PATJ Synonymous SNV E1520E 0.682 0.672 0.707 258 801 258 0.662 208 277 85 76 82 10.99 2702 chr10 99179206 99179206 C T rs4418736 LOC644215 0 0 0.048 0 0 0 0 14 0 0 1 0 0.121 2703 chr10 81371729 81371729 C G rs1136450 SFTPA1 Nonsynonymous SNV L50V 0.36 0.385 0.35 140 423 148 0.359 103 68 28 20 20 Benign/Likely benign 0.003 2704 chr10 99205731 99205731 A G rs4919098 EXOSC1 Synonymous SNV P4P 0.133 0.109 0.088 50 156 42 0.128 26 13 2 2 3 0.227 2705 chr1 62594593 62594593 C T rs2476194 PATJ Synonymous SNV N1749N 0.592 0.57 0.585 214 695 219 0.549 172 207 60 54 60 15.4 2706 chr10 99220707 99220707 C T rs3740526 MMS19 Nonsynonymous SNV G692D 0.486 0.458 0.48 216 570 176 0.554 141 133 37 34 60 12.76 2707 chr1 54661150 54661150 C T rs946448 CYB5RL Nonsynonymous SNV R47K 0.269 0.273 0.286 103 316 105 0.264 84 35 14 12 21 20.6 2708 chr1 62672546 62672546 G A rs2457829 L1TD1 Synonymous SNV G82G 0.908 0.911 0.864 359 1066 350 0.921 254 484 160 111 164 5.465 2709 chr10 81701722 81701722 T C rs2243639 SFTPD Nonsynonymous SNV T180A 0.595 0.62 0.616 239 698 238 0.613 181 196 72 58 74 Benign 0.003 2710 chr10 73405596 73405596 C A rs747106189 CDH23 Nonsynonymous SNV N383K 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 33 2711 chr1 62673037 62673037 T C rs7542665 L1TD1 Nonsynonymous SNV V246A 0.713 0.719 0.633 266 837 276 0.682 186 295 107 53 86 0.018 2712 chr10 99238117 99238117 G A rs29001280 MMS19 Nonsynonymous SNV R98W 0 0 0.007 0 0 0 0 2 0 0 0 0 35 2713 chr1 54661234 54661234 C T rs79743819 CYB5RL Nonsynonymous SNV R19Q 0.033 0.039 0.041 18 39 15 0.046 12 2 0 1 0 23 2714 chr10 81319267 81319267 C T rs1650232 SFTPA2 0.485 0.474 0.497 198 569 182 0.508 146 160 52 44 57 4.556 2715 chr10 81706324 81706324 A G rs721917 SFTPD Nonsynonymous SNV M31T 0.398 0.414 0.405 147 467 159 0.377 119 83 29 20 29 Benign 0.003 2716 chr10 99240758 99240758 G C rs2275586 MMS19 Nonsynonymous SNV A68G 0.98 0.977 0.959 381 1151 375 0.977 282 565 184 136 186 11.4 2717 chr1 62673225 62673225 G A rs7533274 L1TD1 Nonsynonymous SNV V309M 0.672 0.685 0.571 256 789 263 0.656 168 260 99 48 78 0.822 2718 chr10 76781906 76781908 GAA - rs71929101 KAT6B E323del 0.121 0.138 0.139 46 142 53 0.118 41 10 1 6 1 2719 chr10 7679393 7679393 C T rs6602256 ITIH5 Synonymous SNV K150K 0.327 0.294 0.354 104 384 113 0.267 104 72 17 20 16 14.55 2720 chr10 99332223 99332223 C G rs12219064 ANKRD2 Nonsynonymous SNV P6R 0.257 0.26 0.303 100 302 100 0.256 89 41 10 13 9 Benign 6.778 2721 chr1 62673287 62673287 A C rs2457828 L1TD1 Nonsynonymous SNV K329N 0.147 0.135 0.061 49 172 52 0.126 18 14 4 2 3 13.75 2722 chr10 76818077 76818077 C T rs11594934 DUPD1 Nonsynonymous SNV D66N 0.027 0.036 0.034 13 32 14 0.033 10 1 1 1 0 24.3 2723 chr10 99337572 99337572 G A rs7094973 ANKRD2 Nonsynonymous SNV A62T 0.69 0.703 0.636 274 810 270 0.703 187 280 93 60 91 0.514 2724 chr10 73490310 73490310 G A rs41281316 CDH23 Nonsynonymous SNV A1222T 0.06 0.047 0.031 23 70 18 0.059 9 4 1 0 2 Benign 23.8 2725 chr10 75576483 75576483 T C rs12217245 CAMK2G Nonsynonymous SNV N414S 0.156 0.182 0.17 65 183 70 0.167 50 16 6 5 4 2.357 2726 chr10 82033594 82033594 G A rs2993763 MAT1A Synonymous SNV Y377Y 0.479 0.474 0.49 200 562 182 0.513 144 138 48 36 55 Benign 4.199 2727 chr1 62713224 62713224 C G rs2941679 KANK4 Nonsynonymous SNV V307L 0.973 0.971 0.976 382 1142 373 0.979 287 555 181 140 187 15.02 2728 chr10 99350017 99350017 G C rs7093840 C10orf62 Nonsynonymous SNV E121D 0.279 0.268 0.272 91 327 103 0.233 80 37 13 7 12 7.758 2729 chr10 72520254 72520254 C T rs61736607 ADAMTS14 Nonsynonymous SNV P1106L 0.091 0.091 0.058 38 107 35 0.097 17 1 1 0 1 11.29 2730 chr10 81706281 81706281 A G rs6413520 SFTPD Synonymous SNV S45S 0.082 0.065 0.068 25 96 25 0.064 20 4 1 1 0 Benign 4.877 2731 chr1 62738904 62738904 T C rs7516290 KANK4 Synonymous SNV P624P 0.644 0.667 0.656 264 756 256 0.677 193 244 91 64 88 0.593 2732 chr10 99350128 99350128 A G rs7093643 C10orf62 Synonymous SNV L158L 0.284 0.268 0.276 93 333 103 0.238 81 39 13 7 12 1.007 2733 chr10 75673879 75673879 C T rs2227568 PLAU Synonymous SNV N257N 0.138 0.177 0.156 64 162 68 0.164 46 12 5 4 3 Benign 18.09 2734 chr1 55085648 55085648 C T rs17399297 FAM151A Nonsynonymous SNV D51N 0.023 0.029 0.007 11 27 11 0.028 2 1 0 0 0 Likely benign 22.6 2735 chr1 62738961 62738961 G A rs61623093 KANK4 Synonymous SNV S605S 0.076 0.083 0.092 32 89 32 0.082 27 5 3 1 1 12.38 2736 chr10 99371344 99371344 C A rs12261752 HOGA1 Synonymous SNV A141A 0.313 0.299 0.286 103 367 115 0.264 84 65 18 10 14 Benign 18.98 2737 chr10 76858962 76858962 T - rs3832680 DUSP13 A80Qfs*21 0.189 0.198 0 57 222 76 0.146 0 20 6 0 5 2738 chr10 99473666 99473666 C G rs11189342 MARVELD1 Synonymous SNV P11P 0.244 0.206 0.252 80 286 79 0.205 74 51 18 8 15 12.03 2739 chr1 62740065 62740065 A G rs12127930 KANK4 Synonymous SNV G237G 0.487 0.482 0.517 197 572 185 0.505 152 143 46 41 50 0.02 2740 chr10 82363340 82363340 C A rs7069048 SH2D4B Synonymous SNV R168R 0.248 0.281 0.269 105 291 108 0.269 79 35 13 7 6 19.94 2741 chr10 76861680 76861680 T C rs6480771 DUSP13 Nonsynonymous SNV S75G 0.476 0.497 0.408 177 559 191 0.454 120 149 48 29 37 8.679 2742 chr10 99504630 99504630 G T rs10882993 ZFYVE27 Nonsynonymous SNV G40V 0.767 0.786 0.779 304 901 302 0.779 229 340 121 87 120 Benign 0.111 2743 chr1 62740446 62740446 T C rs2666506 KANK4 Synonymous SNV P110P 0.647 0.672 0.673 266 760 258 0.682 198 245 91 64 89 0.148 2744 chr10 82363404 82363404 A G rs7075840 SH2D4B Nonsynonymous SNV H189R 0.247 0.281 0.272 105 290 108 0.269 80 35 13 8 6 8.888 2745 chr1 62740449 62740449 T C rs2666507 KANK4 Synonymous SNV S109S 0.647 0.672 0.673 266 760 258 0.682 198 245 91 64 89 0.025 2746 chr10 99531571 99531571 C G rs11815012 SFRP5 Nonsynonymous SNV G7A 0.744 0.768 0.391 290 873 295 0.744 115 373 133 53 125 0.003 2747 chr1 55119534 55119534 C T rs17399810 MROH7 Nonsynonymous SNV S312F 0.204 0.242 0.231 99 239 93 0.254 68 22 14 11 11 24 2748 chr10 72629567 72629567 C T rs827249 SGPL1 Synonymous SNV A241A 0.066 0.073 0.068 18 77 28 0.046 20 3 1 0 1 15.79 2749 chr1 63872032 63872032 T C rs35383149 ALG6 Nonsynonymous SNV Y131H 0.077 0.063 0.065 26 90 24 0.067 19 3 0 0 2 Benign/Likely benign 18.04 2750 chr10 82369226 82369226 G A rs76769317 SH2D4B Nonsynonymous SNV V254I 0.005 0.01 0.014 3 6 4 0.008 4 0 0 0 0 14.3 2751 chr10 99969475 99969475 A C rs34494334 R3HCC1L Nonsynonymous SNV D535A 0.204 0.203 0.19 71 240 78 0.182 56 24 12 4 8 7.535 2752 chr10 7759595 7759595 C T rs7072478 ITIH2 Synonymous SNV S158S 0.129 0.13 0.146 45 151 50 0.115 43 12 4 3 4 11.56 2753 chr10 7622009 7622009 G A rs41298373 ITIH5 Nonsynonymous SNV A162V 0.083 0.109 0.095 34 98 42 0.087 28 0 3 0 2 27.9 2754 chr10 82403836 82403836 G A rs113555087 SH2D4B Synonymous SNV X310X 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 9.101 2755 chr1 63881552 63881552 C T rs4630153 ALG6 Nonsynonymous SNV S304F 0.75 0.74 0.752 282 880 284 0.723 221 338 104 84 102 Benign/Likely benign 14.01 2756 chr10 99991408 99991408 A G rs1952061 R3HCC1L Nonsynonymous SNV H642R 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 8.339 2757 chr10 85960395 85960395 A G rs4933975 CDHR1 Synonymous SNV A159A 0.433 0.417 0.395 141 508 160 0.362 116 114 25 26 20 Benign 0.183 2758 chr1 63975830 63975830 T C rs6588047 ITGB3BP Nonsynonymous SNV R10G 0.678 0.682 0.007 318 796 262 0.815 2 397 131 1 158 0.001 2759 chr10 7679383 7679383 C T rs746984634 ITIH5 Nonsynonymous SNV A154T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.39 2760 chr11 100556305 100556305 - T rs11373240 LOC100128386 0 0 0.238 0 0 0 0 70 0 0 9 0 2761 chr10 85972043 85972043 A G rs10749482 CDHR1 Synonymous SNV E554E 0.286 0.263 0.224 89 336 101 0.228 66 50 10 8 7 Benign 1.319 2762 chr10 85962879 85962879 G A rs147346345 CDHR1 Synonymous SNV P261P 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.05 2763 chr11 100814570 100814570 A G rs543146 ARHGAP42 Synonymous SNV R338R 0.279 0.284 0.238 140 327 109 0.359 70 49 16 10 27 10.15 2764 chr10 7772035 7772035 A G rs35524242 ITIH2 Nonsynonymous SNV N467S 0.087 0.083 0.048 41 102 32 0.105 14 2 1 1 2 0.011 2765 chr1 63997633 63997633 A T rs9804078 EFCAB7 Synonymous SNV S110S 0.23 0.232 0.224 82 270 89 0.21 66 29 9 11 9 1.058 2766 chr11 100846936 100846936 A G rs654593 ARHGAP42 Synonymous SNV P668P 0.396 0.414 0.347 203 465 159 0.521 102 88 36 18 54 0.015 2767 chr10 85974236 85974236 T C rs3814213 CDHR1 Synonymous SNV T813T 0.524 0.497 0.49 165 615 191 0.423 144 157 40 35 30 Benign 0.023 2768 chr1 63999826 63999826 C T rs6693255 EFCAB7 Nonsynonymous SNV T248I 0.23 0.232 0.248 82 270 89 0.21 73 29 9 11 9 13.16 2769 chr11 100847050 100847050 A G rs569270 ARHGAP42 Synonymous SNV S706S 0.395 0.414 0.347 203 464 159 0.521 102 88 36 18 54 0.005 2770 chr10 7774358 7774358 C G rs7084817 ITIH2 Nonsynonymous SNV L569V 0.087 0.083 0.048 41 102 32 0.105 14 2 1 1 2 24.7 2771 chr10 85978939 85978939 G A rs4244947 CDHR1 Synonymous SNV L715L 0.451 0.419 0.418 143 530 161 0.367 123 121 25 26 22 2.962 2772 chr10 85992478 85992478 T C rs3814210 LRIT1 Synonymous SNV G359G 0.397 0.37 0.364 134 466 142 0.344 107 97 26 21 19 0.002 2773 chr11 100847069 100847069 G A rs569336 ARHGAP42 Nonsynonymous SNV V713I 0.341 0.352 0.272 179 400 135 0.459 80 70 25 12 42 2.522 2774 chr10 85978991 85978991 C T rs7895270 CDHR1 Synonymous SNV L733L 0.241 0.203 0.194 71 283 78 0.182 57 34 5 7 5 3.067 2775 chr10 85992511 85992511 T C rs3814209 LRIT1 Synonymous SNV P348P 0.397 0.37 0.364 134 466 142 0.344 107 97 26 21 19 0.002 2776 chr10 75671356 75671356 G T rs2227580 PLAU Nonsynonymous SNV V15L 0.027 0.026 0.024 14 32 10 0.036 7 0 0 0 1 Benign 15 2777 chr1 63999868 63999868 T C rs6657480 EFCAB7 Nonsynonymous SNV M262T 0.233 0.237 0.265 82 274 91 0.21 78 31 9 12 10 0.001 2778 chr11 100998623 100998623 G A rs1379130 PGR Synonymous SNV G393G 0.294 0.297 0.289 138 345 114 0.354 85 52 12 12 26 14.62 2779 chr10 85981801 85981801 T G rs6585847 LRIT2 Nonsynonymous SNV T510P 0.452 0.419 0.418 145 531 161 0.372 123 121 25 26 22 0.14 2780 chr11 100999838 100999838 - G rs11437764 PGR-AS1 0.835 0.828 0.997 351 980 318 0.9 293 490 159 146 175 2781 chr11 101323770 101323770 C T rs12805398 TRPC6 Synonymous SNV Q904Q 0.127 0.154 0.153 40 149 59 0.103 45 9 6 4 2 Benign 11.59 2782 chr10 85993910 85993910 G A rs3814206 LRIT1 Synonymous SNV L272L 0.459 0.435 0.446 151 539 167 0.387 131 121 34 31 24 0.11 2783 chr1 64021096 64021096 G A rs2273367 EFCAB7 Nonsynonymous SNV R375K 0.228 0.232 0.255 81 268 89 0.208 75 29 9 11 9 17.49 2784 chr11 1013987 1013987 G A rs10902268 MUC6 Nonsynonymous SNV R2352W 0.098 0.12 0.109 43 115 46 0.11 32 9 5 1 4 23.1 2785 chr10 86004873 86004873 T C rs2279227 RGR Synonymous SNV T9T 0.486 0.495 0.524 180 571 190 0.462 154 138 49 49 43 Benign 0.019 2786 chr1 55266797 55266797 G C rs671108 TTC22 Nonsynonymous SNV L14V 0.285 0.276 0.265 128 335 106 0.328 78 39 14 11 24 23.2 2787 chr1 64097432 64097432 C T rs1126728 PGM1 Nonsynonymous SNV R239C 0.248 0.245 0.293 117 291 94 0.3 86 34 10 12 16 Benign/Likely benign 33 2788 chr11 1016665 1016665 C T rs77438942 MUC6 Nonsynonymous SNV V2046I 0.296 0.302 0.293 103 347 116 0.264 86 0 0 0 0 0.003 2789 chr10 86012713 86012713 C T rs1042454 RGR Synonymous SNV Y153Y 0.333 0.349 0.401 140 391 134 0.359 118 52 20 26 27 Benign 13.49 2790 chr10 77160106 77160106 C T rs142571704 ZNF503 Synonymous SNV A114A 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 21 2791 chr10 86131059 86131059 A G rs3814205 CCSER2 Nonsynonymous SNV N84S 0.217 0.208 0.207 72 255 80 0.185 61 21 7 8 5 0.001 2792 chr1 64515379 64515379 C T rs1772626 ROR1 Synonymous SNV L60L 0.79 0.745 0.776 296 928 286 0.759 228 362 105 87 111 11.31 2793 chr11 1016713 1016713 T C rs76406481 MUC6 Nonsynonymous SNV T2030A 0.2 0.164 0.422 50 235 63 0.128 124 0 0 0 0 0.001 2794 chr1 64608329 64608329 G T rs2762833 ROR1 Synonymous SNV A390A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.15 2795 chr10 86273249 86273249 T C rs11557865 CCSER2 Nonsynonymous SNV S246P 0.217 0.208 0.207 72 255 80 0.185 61 21 7 8 5 9.096 2796 chr11 1016722 1016722 T G rs144616203 MUC6 Nonsynonymous SNV T2027P 0.213 0.19 0.378 56 250 73 0.144 111 0 0 0 0 4.44 2797 chr10 85997250 85997250 G A rs10887259 LRIT1 Synonymous SNV G105G 0.319 0.276 0.265 111 375 106 0.285 78 69 15 14 13 12.68 2798 chr1 64624842 64624842 A G rs6668545 ROR1 Synonymous SNV V451V 0.377 0.354 0.422 132 443 136 0.338 124 78 23 22 25 9.705 2799 chr10 73269891 73269891 G A rs111033288 CDH23 Synonymous SNV V66V 0.004 0.005 0.01 5 5 2 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.92 2800 chr10 77795862 77795862 A G rs60420182 LRMDA Synonymous SNV R48R 0.009 0.016 0.01 2 11 6 0.005 3 0 0 0 0 Benign 0.201 2801 chr1 55319902 55319902 A G rs718265 DHCR24 Synonymous SNV I342I 0.629 0.622 0.656 232 739 239 0.595 193 223 71 64 67 Benign 5.589 2802 chr1 65095054 65095054 G A rs17383227 CACHD1 Synonymous SNV L178L 0.098 0.089 0.065 24 115 34 0.062 19 6 1 2 0 13.23 2803 chr11 1016724 1016724 A G rs3208810 MUC6 Nonsynonymous SNV I2026T 0.113 0.115 0.418 24 133 44 0.062 123 0 0 0 0 0.032 2804 chr10 88126072 88126072 G A rs61856638 GRID1 Synonymous SNV I26I 0.233 0.219 0.245 66 274 84 0.169 72 41 11 11 6 16.96 2805 chr1 65113568 65113568 T C rs6588100 CACHD1 Nonsynonymous SNV M118T 0.997 1 0.997 388 1171 384 0.995 293 584 192 146 193 0.162 2806 chr10 88422028 88422028 C G rs34191521 OPN4 Nonsynonymous SNV L365V 0.054 0.047 0.024 24 63 18 0.062 7 0 0 0 1 11 2807 chr1 55474262 55474262 G A rs33938617 BSND Synonymous SNV P308P 0.155 0.169 0.146 87 182 65 0.223 43 13 4 2 11 Benign 7.991 2808 chr11 1016776 1016776 C T rs33988517 MUC6 Nonsynonymous SNV V2009I 0.492 0.49 0.5 192 578 188 0.492 147 0 0 0 0 0.011 2809 chr1 55509585 55509585 C T rs151193009 PCSK9 Nonsynonymous SNV R93C 0.001 0.008 0 4 1 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 2810 chr1 65303659 65303659 C T rs12129819 JAK1 Synonymous SNV K1032K 0.135 0.141 0.129 58 158 54 0.149 38 10 4 2 6 17.65 2811 chr10 88422116 88422116 C T rs1079610 OPN4 Nonsynonymous SNV T394I 0.631 0.578 0.551 250 741 222 0.641 162 215 59 51 81 7.821 2812 chr11 1016795 1016795 C G rs111397691 MUC6 Nonsynonymous SNV Q2002H 0.015 0.016 0.119 6 18 6 0.015 35 0 0 0 0 1.346 2813 chr1 65310489 65310489 T C rs2230588 JAK1 Synonymous SNV P733P 0.265 0.31 0.272 101 311 119 0.259 80 43 18 9 18 0.338 2814 chr10 8051250 8051250 C T rs199942319 TAF3 Nonsynonymous SNV A842V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.7 2815 chr11 1016800 1016800 G A rs199626069 MUC6 Nonsynonymous SNV P2001S 0.091 0.096 0.082 35 107 37 0.09 24 0 0 0 0 0.697 2816 chr1 65335062 65335062 A G rs45598436 JAK1 Synonymous SNV A193A 0.135 0.141 0.129 59 159 54 0.151 38 11 4 1 6 3.806 2817 chr10 88635779 88635779 C A rs11528010 BMPR1A Nonsynonymous SNV P2T 0.244 0.229 0.133 103 286 88 0.264 39 43 10 6 12 Benign 8.674 2818 chr1 65858145 65858145 G A rs4325172 DNAJC6 Synonymous SNV E500E 0.47 0.477 0.558 194 552 183 0.497 164 130 48 42 49 9.121 2819 chr10 81317045 81317045 G T rs1965708 SFTPA2 Nonsynonymous SNV Q233K 0.253 0.242 0.272 109 297 93 0.279 80 47 11 8 12 Benign 0.001 2820 chr11 1016834 1016834 G A rs34740154 MUC6 Synonymous SNV F1989F 0.495 0.49 0.483 194 581 188 0.497 142 0 0 0 0 1.82 2821 chr1 65860687 65860687 A C rs4582839 DNAJC6 Synonymous SNV P670P 0.52 0.547 0.626 212 611 210 0.544 184 151 59 54 57 0.002 2822 chr11 1016890 1016890 G A rs113508205 MUC6 Nonsynonymous SNV P1971S 0.463 0.432 0.486 168 544 166 0.431 143 0 0 0 0 not provided 12.6 2823 chr1 66036441 66036441 A G rs1137100 LEPR Nonsynonymous SNV K109R 0.157 0.188 0.119 51 184 72 0.131 35 12 8 0 1 Benign 14.05 2824 chr11 1016905 1016905 A T MUC6 Nonsynonymous SNV F1966I 0.014 0.008 0.143 1 17 3 0.003 42 0 0 0 0 13.19 2825 chr1 66058513 66058513 A G rs1137101 LEPR Nonsynonymous SNV Q223R 0.412 0.398 0.391 128 484 153 0.328 115 96 29 26 22 Benign 13.22 2826 chr11 1016914 1016914 G T rs74632841 MUC6 Nonsynonymous SNV P1963T 0.411 0.398 0.405 155 483 153 0.397 119 0 0 0 0 0.003 2827 chr10 89623861 89623861 T - rs71022512 PTEN 0.987 0.99 0.007 387 1159 380 0.992 2 578 189 1 192 2828 chr1 66067109 66067109 T C rs1805134 LEPR Synonymous SNV S343S 0.267 0.24 0.255 86 314 92 0.221 75 38 11 14 14 Benign/Likely benign 0.823 2829 chr10 81928983 81928983 A G rs11542746 ANXA11 Synonymous SNV P101P 0.013 0.005 0.01 10 15 2 0.026 3 0 0 0 0 10.21 2830 chr10 73537449 73537449 G A rs41281330 CDH23 Nonsynonymous SNV V1620M 0.032 0.049 0.048 9 37 19 0.023 14 0 0 1 0 Benign 29.1 2831 chr10 89623901 89623901 G C rs2943772 PTEN Nonsynonymous SNV C65S 0.961 0.958 0 375 1128 368 0.962 0 564 184 0 187 Benign 8.873 2832 chr11 1016916 1016916 A G rs771995197 MUC6 Nonsynonymous SNV L1962P 0.256 0.234 0.262 95 300 90 0.244 77 0 0 0 0 0.717 2833 chr1 66102257 66102257 G A rs1805096 LEPR Synonymous SNV P1019P 0.325 0.359 0.344 129 382 138 0.331 101 61 23 14 19 Benign 0.171 2834 chr10 82363405 82363405 C T rs1913762 SH2D4B Synonymous SNV H189H 0.066 0.089 0.109 15 78 34 0.038 32 5 1 3 0 13.19 2835 chr1 66831370 66831370 G A rs783036 PDE4B Synonymous SNV E263E 0.444 0.451 0.405 171 521 173 0.438 119 117 34 26 40 11.18 2836 chr11 1016928 1016928 C G rs34053383 MUC6 Nonsynonymous SNV S1958T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 1 0 0.003 2837 chr10 84744926 84744926 C A rs17101193 NRG3 Nonsynonymous SNV N552K 0.073 0.078 0.054 29 86 30 0.074 16 2 1 0 0 12.02 2838 chr1 67243024 67243024 C A rs2133173 TCTEX1D1 Nonsynonymous SNV L143I 0.203 0.188 0.194 88 238 72 0.226 57 22 2 4 13 8.479 2839 chr10 7791230 7791230 G T rs371895834 ITIH2 Nonsynonymous SNV G925V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 27.2 2840 chr11 1016957 1016957 T G rs200695483 MUC6 Nonsynonymous SNV R1948S 0.497 0.495 0.466 193 584 190 0.495 137 0 0 0 0 2.591 2841 chr1 67263817 67263817 C G rs142474066 INSL5 Nonsynonymous SNV G96A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.016 2842 chr10 84745040 84745040 A G rs17101196 NRG3 Synonymous SNV P590P 0.073 0.081 0.058 29 86 31 0.074 17 2 1 0 0 Uncertain significance 0.098 2843 chr11 1016976 1016976 T G rs78728217 MUC6 Nonsynonymous SNV H1942P 0.485 0.482 0.361 186 569 185 0.477 106 0 0 0 0 0.004 2844 chr1 67266756 67266756 T A rs549148 INSL5 Nonsynonymous SNV Q50L 0.84 0.805 0.895 327 986 309 0.838 263 418 123 118 137 0.003 2845 chr10 90580144 90580144 C T rs10788615 LIPM Synonymous SNV H386H 0.359 0.37 0.384 134 421 142 0.344 113 66 29 21 24 13.28 2846 chr11 1016977 1016977 G A rs757361404 MUC6 Nonsynonymous SNV H1942Y 0.316 0.331 0.061 118 371 127 0.303 18 0 0 0 0 0.08 2847 chr1 58971748 58971748 T A rs77244905 OMA1 Nonsynonymous SNV D450V 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 27.3 2848 chr10 90585819 90585819 G A rs7893917 ANKRD22 Synonymous SNV G125G 0.401 0.417 0.432 144 471 160 0.369 127 85 33 23 27 9.057 2849 chr1 67288045 67288045 C T rs482082 WDR78 Nonsynonymous SNV R832Q 0.461 0.466 0.524 184 541 179 0.472 154 118 49 38 49 15.34 2850 chr11 1016978 1016978 T C rs76461263 MUC6 Synonymous SNV K1941K 0.141 0.122 0.068 52 166 47 0.133 20 0 0 0 0 0.002 2851 chr10 90673024 90673024 G A rs12254856 STAMBPL1 Nonsynonymous SNV S196N 0.122 0.109 0.122 49 143 42 0.126 36 6 1 2 3 7.93 2852 chr11 1017029 1017029 T G rs35621365 MUC6 Synonymous SNV S1924S 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 1.328 2853 chr1 58971831 58971831 G A rs3087585 OMA1 Synonymous SNV F422F 0.318 0.328 0.262 112 373 126 0.287 77 62 19 11 15 9.746 2854 chr10 73571765 73571765 T C rs45583140 CDH23 Nonsynonymous SNV F885L 0.026 0.031 0.031 6 30 12 0.015 9 0 0 1 0 Benign/Likely benign 22.2 2855 chr11 1017069 1017069 G A rs80333708 MUC6 Nonsynonymous SNV T1911M 0.33 0.305 0.425 134 388 117 0.344 125 0 0 0 0 24.4 2856 chr1 67390416 67390416 G C rs3008858 WDR78 Nonsynonymous SNV C33W 0.81 0.805 0.765 309 951 309 0.792 225 388 124 87 119 1.419 2857 chr10 90673047 90673047 G A rs34270879 STAMBPL1 Nonsynonymous SNV E204K 0.049 0.063 0.058 23 57 24 0.059 17 2 1 1 1 25.4 2858 chr10 82369219 82369219 T A rs17107368 SH2D4B Nonsynonymous SNV D251E 0.191 0.198 0.143 68 224 76 0.174 42 23 8 4 3 0.847 2859 chr1 58999651 58999651 T G rs17117678 OMA1 Nonsynonymous SNV I329L 0.111 0.154 0.088 46 130 59 0.118 26 7 7 2 0 18.56 2860 chr10 91007339 91007339 C T rs1051339 LIPA Nonsynonymous SNV G23R 0.1 0.076 0.133 41 117 29 0.105 39 7 1 1 2 Benign/Likely benign 0.549 2861 chr10 82369202 82369202 C T rs12243537 SH2D4B Nonsynonymous SNV R246C 0.009 0.018 0.02 4 11 7 0.01 6 0 0 0 0 24.1 2862 chr11 1017084 1017084 G A rs34649796 MUC6 Nonsynonymous SNV P1906L 0.313 0.305 0.371 112 368 117 0.287 109 0 0 0 0 0.038 2863 chr1 67390468 67390468 C G rs1886686 WDR78 Nonsynonymous SNV G16A 0.81 0.805 0.762 309 951 309 0.792 224 388 124 87 119 0.005 2864 chr1 59002221 59002221 T C rs7537470 OMA1 Synonymous SNV E231E 0.124 0.161 0.075 54 146 62 0.138 22 7 7 2 2 0.614 2865 chr10 91065949 91065949 A C rs17468739 IFIT2 Nonsynonymous SNV E79A 0.177 0.203 0.184 78 208 78 0.2 54 12 11 2 6 0.002 2866 chr11 1017113 1017113 T C rs74202058 MUC6 Synonymous SNV T1896T 0.487 0.492 0.49 189 572 189 0.485 144 0 0 0 0 0.011 2867 chr1 67558739 67558739 C T rs6588237 C1orf141 Synonymous SNV T384T 0.819 0.794 0.884 324 962 305 0.831 260 427 131 117 137 11.41 2868 chr11 1017135 1017135 G A rs747429892 MUC6 Nonsynonymous SNV T1889I 0.442 0.419 0.446 170 519 161 0.436 131 0 0 0 0 22.7 2869 chr1 59042311 59042311 T G rs35075952 TACSTD2 Nonsynonymous SNV D173A 0.12 0.151 0.088 47 141 58 0.121 26 7 7 2 0 Benign 4.738 2870 chr1 67560956 67560956 C T rs11208997 C1orf141 Nonsynonymous SNV V189I 0.858 0.833 0.891 329 1007 320 0.844 262 434 133 118 137 2.522 2871 chr10 81371565 81371565 C T rs755258487 SFTPA1 Nonsynonymous SNV A10V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.93 2872 chr10 85956268 85956268 C A rs12781048 CDHR1 Nonsynonymous SNV H53Q 0.032 0.039 0.048 8 38 15 0.021 14 1 0 1 1 Uncertain significance 0.856 2873 chr11 1017154 1017154 T G rs112965257 MUC6 Nonsynonymous SNV I1883L 0.459 0.422 0.446 168 539 162 0.431 131 0 0 0 0 0.001 2874 chr1 59125683 59125683 C T rs232777 MYSM1 Nonsynonymous SNV E825K 0.168 0.177 0.116 66 197 68 0.169 34 20 6 5 5 22 2875 chr1 67633812 67633812 G T rs1884444 IL23R Nonsynonymous SNV Q3H 0.52 0.492 0.486 179 610 189 0.459 143 161 47 33 35 16.92 2876 chr10 87898729 87898729 G A rs17106320 GRID1 Synonymous SNV D191D 0.197 0.219 0.18 80 231 84 0.205 53 16 4 5 9 10.13 2877 chr10 81697818 81697818 A G rs1051246 SFTPD Synonymous SNV A306A 0.187 0.201 0.218 67 220 77 0.172 64 17 6 7 2 Benign 0.324 2878 chr11 1017158 1017158 G T rs36143620 MUC6 Synonymous SNV T1881T 0.451 0.406 0.439 158 530 156 0.405 129 0 0 0 0 0.426 2879 chr11 1017161 1017161 C T rs374837441 MUC6 Synonymous SNV P1880P 0.417 0.38 0.412 144 490 146 0.369 121 0 0 0 0 5.359 2880 chr1 59142713 59142713 T C rs579110 MYSM1 Synonymous SNV P425P 0.526 0.497 0.432 197 617 191 0.505 127 158 51 31 52 5.075 2881 chr1 67685387 67685387 T C rs7530511 IL23R Nonsynonymous SNV L310P 0.862 0.883 0.884 357 1012 339 0.915 260 440 151 114 165 0.165 2882 chr10 88414570 88414570 G A rs11202106 OPN4 Synonymous SNV P10P 0.127 0.052 0.262 36 149 20 0.092 77 34 4 15 6 5.755 2883 chr11 1017169 1017169 G A rs200932890 MUC6 Nonsynonymous SNV P1878S 0.391 0.357 0.405 130 459 137 0.333 119 0 0 0 0 10.52 2884 chr1 59147926 59147926 T C rs12139511 MYSM1 Nonsynonymous SNV T264A 0.525 0.49 0.432 195 616 188 0.5 127 157 49 31 50 0.003 2885 chr1 67795319 67795319 T C rs1495963 IL12RB2 Synonymous SNV S238S 0.974 0.984 0.969 384 1144 378 0.985 285 557 186 138 189 0.069 2886 chr10 81702210 81702210 G C rs17878336 SFTPD Nonsynonymous SNV L123V 0.026 0.021 0.034 14 31 8 0.036 10 0 0 0 0 Benign 0.001 2887 chr11 1017173 1017173 G A rs61869004 MUC6 Synonymous SNV T1876T 0.474 0.482 0.446 184 556 185 0.472 131 0 0 0 0 3.29 2888 chr1 59148118 59148118 A T rs17118103 MYSM1 Nonsynonymous SNV C200S 0.135 0.156 0.109 56 159 60 0.144 32 11 6 2 4 0.476 2889 chr11 1017183 1017183 G T rs34844844 MUC6 Nonsynonymous SNV P1873Q 0.419 0.414 0.408 161 492 159 0.413 120 0 0 0 0 15.8 2890 chr10 88422151 88422151 C A rs3740337 OPN4 Synonymous SNV R406R 0.256 0.211 0.231 90 300 81 0.231 68 36 6 15 10 16.79 2891 chr1 67852335 67852335 G A rs2228420 IL12RB2 Synonymous SNV T557T 0.523 0.49 0.517 191 614 188 0.49 152 160 42 41 42 12.6 2892 chr1 60392271 60392271 G A rs11572191 CYP2J2 Synonymous SNV L50L 0.126 0.138 0.088 54 148 53 0.138 26 6 2 1 1 13.32 2893 chr1 67861520 67861520 C A rs2229546 IL12RB2 Synonymous SNV P693P 0.659 0.68 0.677 247 774 261 0.633 199 255 88 66 72 12.83 2894 chr10 88446985 88446985 T C rs76615432 LDB3 Synonymous SNV D168D 0.045 0.044 0.054 23 53 17 0.059 16 1 0 2 0 Benign/Likely benign 3.942 2895 chr10 85981842 85981842 A G rs12217769 LRIT2 Nonsynonymous SNV V496A 0.201 0.211 0.214 74 236 81 0.19 63 19 8 8 8 0.007 2896 chr11 1017220 1017220 T C rs56238842 MUC6 Nonsynonymous SNV T1861A 0.5 0.5 0.5 194 587 192 0.497 147 0 0 0 0 0.002 2897 chr10 81036987 81036987 A G rs149836320 ZMIZ1 Synonymous SNV R110R 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 8.994 2898 chr1 68624878 68624878 C T rs3748705 WLS Synonymous SNV A53A 0.359 0.362 0.35 143 422 139 0.367 103 81 27 16 25 11.74 2899 chr10 81318663 81318663 C G rs17886395 SFTPA2 Nonsynonymous SNV A101P 0.174 0.161 0.15 53 204 62 0.136 44 19 5 2 2 Benign 0.003 2900 chr10 85981889 85981889 G A rs12218853 LRIT2 Synonymous SNV G480G 0.2 0.211 0.211 74 235 81 0.19 62 19 8 7 8 12.53 2901 chr11 1017231 1017231 A G rs35840539 MUC6 Nonsynonymous SNV I1857T 0.499 0.5 0.5 194 586 192 0.497 147 0 0 0 0 0.014 2902 chr10 91222287 91222287 A C rs3740030 SLC16A12 Nonsynonymous SNV W17G 0.039 0.034 0.061 23 46 13 0.059 18 2 1 1 1 Benign 3.855 2903 chr1 60505783 60505783 G C rs12737449 C1orf87 Nonsynonymous SNV L185V 0.167 0.167 0.122 84 196 64 0.215 36 15 5 1 8 19.64 2904 chr1 68904660 68904660 A C rs149916178 RPE65 Nonsynonymous SNV N321K 0.006 0.021 0.01 1 7 8 0.003 3 0 0 0 0 Benign 4.096 2905 chr10 91198565 91198565 T C rs770900409 SLC16A12 Nonsynonymous SNV Y275C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.5 2906 chr10 85984323 85984323 G A rs11200925 LRIT2 Nonsynonymous SNV L220F 0.201 0.211 0.211 72 236 81 0.185 62 19 8 7 8 8.474 2907 chr11 1017239 1017239 C T rs56386804 MUC6 Synonymous SNV T1854T 0.482 0.477 0.497 188 566 183 0.482 146 0 0 0 0 9.981 2908 chr10 91344169 91344169 G A rs1063943 PANK1 Synonymous SNV D313D 0.078 0.094 0.088 43 91 36 0.11 26 2 1 1 2 1.504 2909 chr10 81372081 81372081 A G rs1136451 SFTPA1 Synonymous SNV P62P 0.203 0.227 0.153 64 238 87 0.164 45 22 9 4 3 Benign 1.255 2910 chr1 60506744 60506744 G A rs10493277 C1orf87 Synonymous SNV S134S 0.163 0.169 0.122 83 191 65 0.213 36 13 5 1 8 6.52 2911 chr11 1017240 1017240 G A rs34507884 MUC6 Nonsynonymous SNV T1854M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 15.07 2912 chr10 81373521 81373521 A G rs1059057 SFTPA1 Synonymous SNV T133T 0.098 0.102 0.068 29 115 39 0.074 20 6 1 1 0 Benign 0.002 2913 chr1 70257809 70257809 A G rs773300750 LRRC7 Synonymous SNV L130L 0.007 0.013 0 0 8 5 0 0 0 0 0 0 7.022 2914 chr10 85984423 85984423 C T rs11200926 LRIT2 Synonymous SNV G186G 0.2 0.211 0.214 72 235 81 0.185 63 19 8 8 8 4.321 2915 chr10 91404448 91404448 C G rs11185826 PANK1 Synonymous SNV L204L 0.204 0.232 0.116 69 240 89 0.177 34 32 10 4 7 14.56 2916 chr11 1017280 1017280 G T rs199539548 MUC6 Nonsynonymous SNV P1841T 0.108 0.102 0.177 47 127 39 0.121 52 0 0 0 0 1.831 2917 chr1 70904800 70904800 G T rs1021737 CTH Nonsynonymous SNV S371I 0.265 0.26 0.241 86 311 100 0.221 71 48 8 11 6 Benign 14.37 2918 chr10 85984723 85984723 G A rs11200928 LRIT2 Synonymous SNV L86L 0.201 0.211 0.214 72 236 81 0.185 63 19 8 8 8 7.42 2919 chr10 88414569 88414569 C T rs2675703 OPN4 Nonsynonymous SNV P10L 0.155 0.156 0.15 58 182 60 0.149 44 29 6 5 1 0.842 2920 chr10 91470834 91470834 A C rs1048057 KIF20B Synonymous SNV R203R 0.203 0.245 0.184 67 238 94 0.172 54 31 11 3 8 1.916 2921 chr10 91404832 91404832 T C rs12769113 PANK1 Synonymous SNV A76A 0.187 0.224 0.187 62 220 86 0.159 55 29 9 4 9 1.104 2922 chr10 81697868 81697868 A T rs3088308 SFTPD Nonsynonymous SNV S290T 0.102 0.102 0.102 29 120 39 0.074 30 6 1 2 0 Benign 10.23 2923 chr11 1017302 1017302 G C rs35330958 MUC6 Nonsynonymous SNV H1833Q 0.497 0.497 0.5 192 583 191 0.492 147 0 0 0 0 0.003 2924 chr10 91484780 91484780 G A rs8181361 KIF20B Synonymous SNV E622E 0.198 0.247 0.184 66 233 95 0.169 54 29 11 3 8 11.65 2925 chr1 71512643 71512643 C A rs5671 PTGER3 Synonymous SNV T206T 0.101 0.102 0.082 38 119 39 0.097 24 6 1 0 2 22.2 2926 chr10 91405044 91405044 C T rs61853459 PANK1 Nonsynonymous SNV G6S 0.061 0.068 0.071 20 72 26 0.051 21 5 0 2 0 23.9 2927 chr1 71538191 71538191 A G rs11556475 ZRANB2 Synonymous SNV Y114Y 0.101 0.102 0.075 38 118 39 0.097 22 6 1 0 2 1.258 2928 chr10 91497631 91497631 T A rs1062465 KIF20B Nonsynonymous SNV D1011E 0.199 0.247 0.184 66 234 95 0.169 54 29 11 3 8 3.423 2929 chr11 1017317 1017317 G T rs33943903 MUC6 Synonymous SNV T1828T 0.499 0.497 0.5 194 586 191 0.497 147 0 0 0 0 3.903 2930 chr10 85997105 85997105 G T rs11200933 LRIT1 Nonsynonymous SNV L154M 0.062 0.065 0.068 16 73 25 0.041 20 1 0 2 2 22.2 2931 chr1 72058552 72058552 G A rs1413368 NEGR1 Synonymous SNV T296T 0.995 0.992 0.983 388 1168 381 0.995 289 581 189 142 193 9.812 2932 chr11 1017325 1017325 A C rs55903826 MUC6 Nonsynonymous SNV Y1826D 0.464 0.466 0.449 188 545 179 0.482 132 0 0 0 0 8.215 2933 chr1 74575182 74575182 C T rs1340472 LRRIQ3 Nonsynonymous SNV A255T 0.922 0.93 0.905 363 1082 357 0.931 266 497 165 123 168 0.008 2934 chr11 1017337 1017337 T C rs76686156 MUC6 Nonsynonymous SNV T1822A 0.498 0.5 0.5 194 585 192 0.497 147 0 0 0 0 10.91 2935 chr10 90429652 90429652 A G rs814628 LIPF Nonsynonymous SNV T128A 0.191 0.169 0.177 87 224 65 0.223 52 24 4 3 7 25.2 2936 chr10 87487798 87487798 G A rs78731548 GRID1 Synonymous SNV F449F 0.012 0.018 0.01 2 14 7 0.005 3 0 1 0 0 13.26 2937 chr1 74649356 74649356 T G LRRIQ3 Nonsynonymous SNV T5P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 25.9 2938 chr10 91498254 91498254 A G rs1886997 KIF20B Nonsynonymous SNV N1219S 0.199 0.247 0.071 66 234 95 0.169 21 29 11 3 8 0.001 2939 chr11 1017338 1017338 C A rs78943453 MUC6 Nonsynonymous SNV Q1821H 0.498 0.497 0.5 195 585 191 0.5 147 0 0 0 0 12.19 2940 chr1 74665493 74665493 G A rs792310 FPGT, FPGT-TNNI3K Synonymous SNV V89V 0.4 0.404 0.422 158 470 155 0.405 124 75 31 27 30 10.54 2941 chr10 91497902 91497902 - TAAAAG rs144593231 KIF20B K1103_E1104insVK 0.198 0.245 0.177 65 233 94 0.167 52 29 11 3 8 2942 chr10 90438207 90438207 A G rs1228187 LIPF Synonymous SNV Q289Q 0.205 0.206 0.214 95 241 79 0.244 63 30 6 7 9 7.334 2943 chr10 7608165 7608165 C A rs61731873 ITIH5 Synonymous SNV G571G 0.019 0.018 0.027 9 22 7 0.023 8 1 0 0 0 17.41 2944 chr10 81926718 81926718 A G rs2228427 ANXA11 Synonymous SNV I224I 0.147 0.151 0.139 60 173 58 0.154 41 11 3 5 4 7.192 2945 chr10 91498318 91498318 A G rs1886998 KIF20B Synonymous SNV K1240K 0.196 0.247 0.031 65 230 95 0.167 9 29 11 1 8 0.01 2946 chr1 74936374 74936374 A G rs596204 LRRC53 Nonsynonymous SNV S978P 0.621 0.641 0.629 239 729 246 0.613 185 221 77 55 76 0.627 2947 chr10 90490921 90490921 G A rs412227 LIPK Synonymous SNV P135P 0.241 0.198 0.211 87 283 76 0.223 62 37 9 6 10 9.821 2948 chr11 1017421 1017421 G T rs35549382 MUC6 Nonsynonymous SNV P1794T 0.482 0.492 0.493 189 566 189 0.485 145 0 0 0 0 0.003 2949 chr10 91503660 91503660 A G rs1126480 KIF20B Synonymous SNV K1337K 0.192 0.237 0.163 65 225 91 0.167 48 29 11 3 8 8.517 2950 chr1 74936454 74936454 G C rs491922 LRRC53 Nonsynonymous SNV A951G 0.579 0.591 0.592 221 680 227 0.567 174 193 67 47 66 13.02 2951 chr10 90503075 90503075 T C rs390152 LIPK Synonymous SNV H319H 0.223 0.193 0.214 83 262 74 0.213 63 38 10 6 12 0.023 2952 chr10 88696622 88696622 C G rs34587013 MMRN2 Nonsynonymous SNV V910L 0.076 0.073 0.061 28 89 28 0.072 18 4 1 0 1 12.21 2953 chr1 74937749 74937749 A G rs3765674 LRRC53 Synonymous SNV H519H 0.58 0.591 0.592 221 681 227 0.567 174 194 67 47 66 4.568 2954 chr10 90512306 90512306 G C rs1214464 LIPK Nonsynonymous SNV M331I 0.221 0.193 0.211 85 260 74 0.218 62 30 7 6 9 21.9 2955 chr11 1017440 1017440 C T rs78729877 MUC6 Synonymous SNV S1787S 0.482 0.484 0.497 188 566 186 0.482 146 0 0 0 0 10.51 2956 chr1 74941210 74941210 C T rs648614 LRRC53 Nonsynonymous SNV G397R 0.58 0.591 0.592 221 681 227 0.567 174 194 67 47 66 19.63 2957 chr11 1017443 1017443 C G rs80266715 MUC6 Synonymous SNV T1786T 0.466 0.466 0.497 180 547 179 0.462 146 0 0 0 0 10.69 2958 chr10 90524237 90524237 T C rs430517 LIPN Synonymous SNV A99A 0.251 0.216 0.214 91 295 83 0.233 63 38 10 6 12 7.527 2959 chr11 1017458 1017458 A G MUC6 Synonymous SNV P1781P 0.226 0.229 0.418 95 265 88 0.244 123 0 0 0 0 0.054 2960 chr10 76788860 76788860 C T rs3740322 KAT6B Synonymous SNV A645A 0.02 0.039 0.027 5 24 15 0.013 8 0 0 0 0 Benign 1.222 2961 chr10 88719789 88719789 C G rs760113 SNCG Nonsynonymous SNV R83G 0.23 0.216 0.289 73 270 83 0.187 85 38 6 13 7 13.77 2962 chr1 74941293 74941293 G A rs649058 LRRC53 Nonsynonymous SNV T369I 0.622 0.641 0.633 239 730 246 0.613 186 222 77 55 76 4.243 2963 chr11 1017461 1017461 G T rs77216712 MUC6 Synonymous SNV T1780T 0.445 0.474 0.456 185 522 182 0.474 134 0 0 0 0 1.635 2964 chr1 62516683 62516683 G C rs2498982 PATJ Nonsynonymous SNV V1360L 0.622 0.607 0.677 237 730 233 0.608 199 221 72 72 68 0.066 2965 chr10 76789077 76789077 G A rs3740321 KAT6B Nonsynonymous SNV V718I 0.02 0.039 0.027 5 24 15 0.013 8 0 0 0 0 Benign 0.861 2966 chr11 1017464 1017464 T G rs112874139 MUC6 Nonsynonymous SNV R1779S 0.02 0.005 0.054 14 24 2 0.036 16 0 0 0 0 0.001 2967 chr10 82122793 82122793 G A rs1538818 DYDC2 Synonymous SNV E78E 0.154 0.128 0.119 41 181 49 0.105 35 10 2 3 0 10.34 2968 chr10 88722398 88722398 A T rs9864 SNCG X127C 0.23 0.214 0.296 70 270 82 0.179 87 38 6 14 6 13.11 2969 chr10 93185103 93185103 G A rs373907920 HECTD2 Synonymous SNV P68P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 2970 chr1 75036812 75036812 C T rs9326116 ERICH3 Nonsynonymous SNV V1528M 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.445 2971 chr11 1017466 1017466 T C rs201054567 MUC6 Nonsynonymous SNV R1779G 0.359 0.406 0.313 159 421 156 0.408 92 0 0 0 0 0.005 2972 chr1 75037845 75037845 A G rs12723334 ERICH3 Synonymous SNV S1183S 0.353 0.372 0.405 148 415 143 0.379 119 81 27 33 30 0.303 2973 chr10 93608142 93608142 G A rs3758499 TNKS2 Synonymous SNV A787A 0.218 0.214 0.299 97 256 82 0.249 88 24 12 12 15 5.187 2974 chr10 76803567 76803567 T G rs16931938 DUPD1 Nonsynonymous SNV S137R 0.085 0.107 0.071 30 100 41 0.077 21 5 1 2 1 0.578 2975 chr11 1017470 1017470 G T rs75533660 MUC6 Synonymous SNV G1777G 0.436 0.453 0.456 170 512 174 0.436 134 0 0 0 0 0.063 2976 chr1 75038228 75038228 A C rs11580409 ERICH3 Nonsynonymous SNV L1056V 0.37 0.391 0.415 153 434 150 0.392 122 87 28 34 31 0.001 2977 chr11 1017471 1017471 C T rs751471255 MUC6 Nonsynonymous SNV G1777D 0.069 0.07 0.139 32 81 27 0.082 41 0 0 0 0 9.92 2978 chr10 93668408 93668408 C T rs10881994 FGFBP3 Nonsynonymous SNV A107T 0.082 0.055 0.054 40 96 21 0.103 16 7 0 1 3 9.623 2979 chr10 76818200 76818200 C T rs149144570 DUPD1 Nonsynonymous SNV E25K 0.003 0.013 0.01 0 3 5 0 3 0 0 0 0 14.37 2980 chr11 1017474 1017474 G A rs757326593 MUC6 Nonsynonymous SNV T1776I 0.183 0.172 0.374 65 215 66 0.167 110 0 0 0 0 0.035 2981 chr1 75097426 75097426 G C rs11210490 ERICH3 Nonsynonymous SNV P264A 0.503 0.513 0.463 195 591 197 0.5 136 142 48 36 52 15.23 2982 chr10 89622102 89622102 - T rs746388484 KLLN Frameshift insertion R48Kfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 2983 chr10 94608319 94608319 C T rs139196824 EXOC6 Nonsynonymous SNV T10I 0.014 0.013 0.007 2 16 5 0.005 2 0 0 0 0 21.3 2984 chr10 93999562 93999562 T A rs3740302 CPEB3 Synonymous SNV P182P 0.102 0.112 0.116 42 120 43 0.108 34 4 4 2 3 0.087 2985 chr11 1017483 1017483 T G rs79986665 MUC6 Nonsynonymous SNV H1773P 0.421 0.438 0.456 169 494 168 0.433 134 0 0 0 0 0.021 2986 chr1 75172001 75172001 T A rs7527057 CRYZ Synonymous SNV G186G 0.471 0.367 0.364 165 553 141 0.423 107 132 27 21 28 6.503 2987 chr11 1017485 1017485 G A rs112510411 MUC6 Synonymous SNV N1772N 0.068 0.049 0.102 29 80 19 0.074 30 0 0 0 0 0.019 2988 chr10 88423473 88423473 C T rs767019152 OPN4 Nonsynonymous SNV R438W 0.003 0 0 0 4 0 0 0 0 0 0 0 15.07 2989 chr1 75175886 75175886 T C rs3819946 CRYZ Nonsynonymous SNV I39V 0.123 0.138 0.153 41 144 53 0.105 45 9 1 2 1 7.369 2990 chr11 1017496 1017498 TGC - rs752315234 MUC6 S1768del 0.176 0.18 0.218 79 207 69 0.203 64 0 0 0 0 2991 chr11 1017514 1017514 A G rs79037833 MUC6 Nonsynonymous SNV S1763P 0.268 0.286 0.449 91 315 110 0.233 132 0 0 0 0 1.418 2992 chr10 94822686 94822686 C T rs55843714 CYP26C1 Synonymous SNV T213T 0.583 0.563 0.588 226 685 216 0.579 173 205 62 52 62 15.75 2993 chr1 62728784 62728784 A G rs2666472 KANK4 Nonsynonymous SNV V212A 0.67 0.677 0.711 254 786 260 0.651 209 263 89 74 80 8.629 2994 chr1 75190452 75190452 C T rs1051122 CRYZ Synonymous SNV G18G 0.689 0.648 0.65 256 809 249 0.656 191 282 83 61 85 15.41 2995 chr11 1017552 1017552 T C rs35868469 MUC6 Nonsynonymous SNV H1750R 0.123 0.099 0.139 46 144 38 0.118 41 0 0 0 0 0.002 2996 chr1 75214441 75214441 A G rs1133891 TYW3 Nonsynonymous SNV M88V 0.117 0.133 0.136 40 137 51 0.103 40 9 1 2 1 0.318 2997 chr10 95259979 95259979 C G rs3740370 CEP55 Nonsynonymous SNV H57Q 0.251 0.242 0.248 99 295 93 0.254 73 41 15 8 15 1.733 2998 chr11 1017565 1017565 A G rs775056183 MUC6 Nonsynonymous SNV S1746P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 2999 chr1 62728838 62728838 T C rs2258470 KANK4 Nonsynonymous SNV H194R 0.67 0.677 0.711 255 787 260 0.654 209 264 89 74 80 5.144 3000 chr10 95132729 95132729 T C rs74150216 MYOF Synonymous SNV A792A 0.032 0.013 0.014 3 38 5 0.008 4 0 0 0 0 0.364 3001 chr1 75622616 75622616 C T rs941032 LHX8 Synonymous SNV H273H 0.351 0.419 0.401 131 412 161 0.336 118 66 31 24 17 13.67 3002 chr11 1017596 1017596 T G rs201522029 MUC6 Nonsynonymous SNV Q1735H 0.145 0.141 0.156 56 170 54 0.144 46 0 0 0 0 0.003 3003 chr1 75681511 75681511 T C rs595009 SLC44A5 Synonymous SNV Q546Q 0.806 0.846 0.888 292 946 325 0.749 261 379 137 116 109 1.125 3004 chr1 62728861 62728861 T C rs2260581 KANK4 Synonymous SNV K186K 0.669 0.677 0.711 255 785 260 0.654 209 263 89 74 80 7.847 3005 chr1 75688101 75688101 T G rs138027438 SLC44A5 Nonsynonymous SNV I338L 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 23.3 3006 chr11 101771248 101771248 G A rs3858418 ANGPTL5 Nonsynonymous SNV R192W 0.968 0.961 0.976 383 1137 369 0.982 287 550 177 141 188 22.2 3007 chr10 90583092 90583092 T G rs2304804 ANKRD22 Nonsynonymous SNV Q148P 0.06 0.029 0.044 21 70 11 0.054 13 3 0 0 0 23.2 3008 chr1 62728918 62728918 G A rs2262110 KANK4 Synonymous SNV P167P 0.67 0.677 0.711 254 786 260 0.651 209 264 89 74 80 10.07 3009 chr11 1017746 1017746 T G rs78848170 MUC6 Nonsynonymous SNV L1685F 0.27 0.258 0.391 114 317 99 0.292 115 0 0 0 0 0.135 3010 chr1 75716925 75716925 C T rs588098 SLC44A5 Synonymous SNV V99V 0.75 0.745 0.701 300 881 286 0.769 206 345 104 73 112 11.31 3011 chr1 62739198 62739198 G A rs17855078 KANK4 Synonymous SNV S526S 0.367 0.349 0.374 147 431 134 0.377 110 79 27 23 26 4.581 3012 chr11 1017756 1017756 A G rs369371347 MUC6 Nonsynonymous SNV L1682P 0.03 0.026 0.235 9 35 10 0.023 69 0 0 0 0 0.011 3013 chr1 76198785 76198785 G A rs3818855 ACADM Synonymous SNV A112A 0.265 0.294 0.289 121 311 113 0.31 85 44 17 10 16 Benign 4.547 3014 chr1 76227022 76227022 A G rs1061337 ACADM Synonymous SNV V198V 0.236 0.279 0.265 111 277 107 0.285 78 34 16 6 16 Benign 6.588 3015 chr11 1017767 1017767 G C rs75637734 MUC6 Synonymous SNV T1678T 0.364 0.393 0.303 153 427 151 0.392 89 0 0 0 0 1.521 3016 chr10 79397367 79397367 T C rs77602559 KCNMA1 Nonsynonymous SNV S12G 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 Benign/Likely benign 12.05 3017 chr11 1017773 1017773 G A rs57384288 MUC6 Synonymous SNV S1676S 0.288 0.292 0.439 108 338 112 0.277 129 0 0 0 0 9.641 3018 chr1 76257892 76257892 A T rs12703 RABGGTB Synonymous SNV A202A 0.939 0.943 0.908 364 1102 362 0.933 267 516 171 122 169 9.668 3019 chr11 1017783 1017783 A G rs36101709 MUC6 Nonsynonymous SNV L1673P 0.413 0.411 0.449 158 485 158 0.405 132 0 0 0 0 0.002 3020 chr1 77634948 77634948 G A rs1779199 PIGK Synonymous SNV Y124Y 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 9.45 3021 chr1 62907883 62907883 C G rs34521477 USP1 Synonymous SNV P103P 0.031 0.042 0 17 36 16 0.044 0 1 1 0 0 15.24 3022 chr10 95422918 95422918 A G rs148661165 PDE6C Nonsynonymous SNV E834G 0.004 0.01 0.01 2 5 4 0.005 3 0 0 0 0 Likely benign 22.8 3023 chr1 77759578 77759578 A G rs2815311 AK5 Synonymous SNV A90A 0.171 0.185 0.116 69 201 71 0.177 34 19 8 1 6 10.38 3024 chr1 62960101 62960101 A G rs10889335 DOCK7 Synonymous SNV L1648L 0.348 0.328 0.337 108 408 126 0.277 99 69 25 15 16 Benign 9.272 3025 chr11 1017789 1017789 A C rs78819924 MUC6 Nonsynonymous SNV M1671R 0.228 0.232 0.289 82 268 89 0.21 85 0 0 0 0 4.508 3026 chr10 87484382 87484382 C T rs2306265 GRID1 Nonsynonymous SNV V529I 0.025 0.036 0.02 10 29 14 0.026 6 0 0 0 0 27.5 3027 chr1 77763542 77763542 G A rs1167206 AK5 Synonymous SNV K177K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 13.72 3028 chr10 95459817 95459817 C T rs726817 FRA10AC1 Nonsynonymous SNV R16H 0.75 0.74 0.772 282 880 284 0.723 227 352 109 92 104 22.4 3029 chr10 95454681 95454681 G C rs2275438 FRA10AC1 Nonsynonymous SNV T78R 0.501 0.568 0.503 196 588 218 0.503 148 143 56 42 50 15.87 3030 chr1 63788951 63788951 C A rs2274187 FOXD3 Synonymous SNV P74P 0.21 0.203 0.211 86 247 78 0.221 62 22 6 6 8 15.02 3031 chr10 87489288 87489288 A G rs3812646 GRID1 Synonymous SNV L439L 0.03 0.036 0.024 10 35 14 0.026 7 1 0 0 0 8.168 3032 chr11 1017793 1017793 T G rs77940304 MUC6 Nonsynonymous SNV T1670P 0.008 0 0.211 1 9 0 0.003 62 0 0 0 0 0.001 3033 chr1 78024345 78024345 - TAT rs6485 AK5 I535_F536insI 0.655 0.646 0.673 243 769 248 0.623 198 268 83 72 74 3034 chr1 78184325 78184325 A G rs12142671 USP33 Synonymous SNV L565L 0.339 0.344 0.265 145 398 132 0.372 78 68 24 17 24 15.1 3035 chr10 87489317 87489317 T C rs3812645 GRID1 Nonsynonymous SNV M430V 0.03 0.036 0.024 10 35 14 0.026 7 1 0 0 0 11.36 3036 chr11 1017797 1017797 C G rs76800954 MUC6 Synonymous SNV A1668A 0.009 0.003 0.214 2 10 1 0.005 63 0 0 0 0 11.33 3037 chr10 95458141 95458141 A G rs11187597 FRA10AC1 Synonymous SNV D30D 0.499 0.565 0.517 195 586 217 0.5 152 144 56 42 50 0.046 3038 chr1 78201745 78201745 G T rs2296227 USP33 Synonymous SNV A150A 0.394 0.383 0.398 165 463 147 0.423 117 117 33 24 35 5.67 3039 chr11 1017833 1017833 C T rs373775476 MUC6 Synonymous SNV P1656P 0.307 0.328 0.276 127 361 126 0.326 81 0 0 0 0 9.404 3040 chr11 1017844 1017844 T C rs200752571 MUC6 Nonsynonymous SNV I1653V 0.314 0.31 0.272 124 369 119 0.318 80 0 0 0 0 0.001 3041 chr10 87489318 87489318 G C rs3812644 GRID1 Synonymous SNV P429P 0.03 0.036 0.024 10 35 14 0.026 7 1 0 0 0 6.284 3042 chr1 79093818 79093818 A G rs273259 IFI44L Nonsynonymous SNV H73R 0.342 0.336 0.337 123 401 129 0.315 99 65 21 21 20 0.001 3043 chr11 1017845 1017845 C G rs74610224 MUC6 Synonymous SNV T1652T 0.461 0.458 0.483 181 541 176 0.464 142 0 0 0 0 8.624 3044 chr1 79095581 79095581 T C rs987495 IFI44L Nonsynonymous SNV I235T 0.233 0.24 0.235 91 273 92 0.233 69 31 12 9 11 0.001 3045 chr11 1017858 1017858 A G rs79583615 MUC6 Nonsynonymous SNV M1648T 0.427 0.411 0.476 173 501 158 0.444 140 0 0 0 0 0.001 3046 chr10 88277457 88277457 C T rs10887621 WAPL Nonsynonymous SNV V124I 0.225 0.208 0.211 81 264 80 0.208 62 33 9 7 7 6.364 3047 chr1 79115905 79115905 T C rs2070123 IFI44 Nonsynonymous SNV W9R 0.073 0.065 0.109 33 86 25 0.085 32 4 0 1 1 17.78 3048 chr11 1017941 1017941 G T rs61869007 MUC6 Synonymous SNV S1620S 0.233 0.227 0.418 94 274 87 0.241 123 0 0 0 0 2.069 3049 chr10 8051225 8051225 G A rs150758246 TAF3 Nonsynonymous SNV A834T 0.014 0.029 0.017 2 16 11 0.005 5 0 0 0 0 15.95 3050 chr11 1017963 1017963 G A rs61869008 MUC6 Nonsynonymous SNV P1613L 0.48 0.479 0.442 192 563 184 0.492 130 0 0 0 0 7.881 3051 chr10 91162677 91162677 C T rs303210 IFIT1 Synonymous SNV D215D 0.209 0.229 0.211 66 245 88 0.169 62 24 9 5 8 1.624 3052 chr10 96039708 96039708 C T rs2274225 PLCE1-AS1 0.199 0.258 0.313 82 234 99 0.21 92 46 23 16 15 6.234 3053 chr1 79392756 79392756 C A rs12754818 ADGRL4 Nonsynonymous SNV V300L 0.622 0.607 0.612 230 730 233 0.59 180 229 70 51 69 13.15 3054 chr11 1017968 1017968 T A rs61869009 MUC6 Synonymous SNV T1611T 0.493 0.49 0.442 194 579 188 0.497 130 0 0 0 0 8.451 3055 chr10 93579289 93579289 A G rs764225002 TNKS2 Nonsynonymous SNV N203S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 3056 chr10 91404921 91404921 A G rs76972886 PANK1 Nonsynonymous SNV W47R 0.016 0.036 0.027 8 19 14 0.021 8 0 0 0 0 13.42 3057 chr10 88423437 88423437 G A rs143623676 OPN4 Nonsynonymous SNV A426T 0.003 0 0 0 3 0 0 0 0 0 0 0 4.134 3058 chr11 1017981 1017981 T A rs61869010 MUC6 Nonsynonymous SNV H1607L 0.497 0.497 0.449 194 584 191 0.497 132 0 0 0 0 0.148 3059 chr10 96106240 96106240 G C rs11187895 NOC3L Nonsynonymous SNV P444R 0.144 0.12 0.105 41 169 46 0.105 31 14 3 1 4 12.97 3060 chr1 82421596 82421596 C T rs11163397 ADGRL2 Synonymous SNV P606P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19.05 3061 chr10 96114835 96114835 G A rs12572897 NOC3L Nonsynonymous SNV P194L 0.102 0.099 0.109 54 120 38 0.138 32 6 4 2 2 17.11 3062 chr10 81317292 81317292 G A rs1965707 SFTPA2 Synonymous SNV S150S 0.177 0.172 0.007 76 208 66 0.195 2 13 7 0 7 Benign/Likely benign 4.747 3063 chr11 1018025 1018025 C A rs10751677 MUC6 Synonymous SNV T1592T 0.496 0.497 0.412 192 582 191 0.492 121 0 0 0 0 13.77 3064 chr1 84864256 84864256 G C rs3738573 DNASE2B Nonsynonymous SNV Q3H 0.287 0.266 0.327 102 337 102 0.262 96 53 8 18 15 1.034 3065 chr10 91468925 91468925 C G rs1129777 KIF20B Nonsynonymous SNV A50G 0.072 0.117 0.102 44 84 45 0.113 30 7 11 5 10 9.565 3066 chr10 81319092 81319092 C G rs192907309 SFTPA2 Nonsynonymous SNV V60L 0.071 0.083 0.054 35 83 32 0.09 16 1 1 0 0 Benign 0.398 3067 chr11 1018031 1018031 G A rs10751678 MUC6 Synonymous SNV P1590P 0.495 0.497 0.405 193 581 191 0.495 119 0 0 0 0 1.373 3068 chr11 1018116 1018116 T G rs10902269 MUC6 Nonsynonymous SNV N1562T 0.481 0.49 0.269 190 565 188 0.487 79 0 0 0 0 0.002 3069 chr1 84880380 84880380 T C rs3768250 DNASE2B Synonymous SNV H97H 0.326 0.305 0.313 106 383 117 0.272 92 59 15 7 16 0.401 3070 chr10 96702047 96702047 C T rs1799853 CYP2C9 Nonsynonymous SNV R144C 0.158 0.151 0.139 66 186 58 0.169 41 19 6 3 3 drug response 29.1 3071 chr10 96313960 96313960 A C rs11188019 HELLS Synonymous SNV I77I 0.418 0.396 0.361 176 491 152 0.451 106 103 28 23 40 3.822 3072 chr10 81319214 81319214 G T rs1059046 SFTPA2 Nonsynonymous SNV T19N 0.176 0.164 0.248 59 207 63 0.151 73 0 0 0 0 Benign 0.003 3073 chr1 84944989 84944989 A G rs2292191 RPF1 Nonsynonymous SNV S9G 0.561 0.594 0.49 205 659 228 0.526 144 192 77 35 56 0.396 3074 chr10 96480216 96480216 T - rs757989704 CYP2C18 F236Lfs*12 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3075 chr11 1018138 1018138 T C rs71454075 MUC6 Nonsynonymous SNV R1555G 0.484 0.49 0.197 188 568 188 0.482 58 0 0 0 0 0.36 3076 chr10 96522561 96522561 T C rs17885098 CYP2C19 Synonymous SNV P33P 0.083 0.076 0.109 52 97 29 0.133 32 5 1 1 5 0.096 3077 chr10 91487649 91487649 A T rs12572012 KIF20B Nonsynonymous SNV N756I 0.154 0.203 0.109 80 181 78 0.205 32 8 11 6 12 13.27 3078 chr10 96602623 96602623 G A rs3758581 CYP2C19 Nonsynonymous SNV V331I 0.075 0.065 0.112 44 88 25 0.113 33 3 1 1 2 0.001 3079 chr11 1018144 1018144 G C rs12807084 MUC6 Nonsynonymous SNV R1553G 0.484 0.49 0.187 190 568 188 0.487 55 0 0 0 0 6.145 3080 chr1 64643277 64643277 C T rs7527017 ROR1 Nonsynonymous SNV T518M 0.275 0.273 0.293 96 323 105 0.246 86 46 13 10 12 24 3081 chr10 81319262 81319262 C T rs777360215 SFTPA2 Nonsynonymous SNV G3E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.731 3082 chr1 85009894 85009894 A G rs12143652 SPATA1 Nonsynonymous SNV K243E 0.282 0.263 0.299 118 331 101 0.303 88 42 16 14 17 2.329 3083 chr10 91497623 91497623 C T rs148049931 KIF20B Nonsynonymous SNV L1009F 0.001 0.01 0 0 1 4 0 0 0 0 0 0 6.769 3084 chr10 97106165 97106165 T C rs726176 SORBS1 Synonymous SNV L459L 0.322 0.344 0.367 91 378 132 0.233 108 84 31 18 17 10.22 3085 chr1 85016177 85016177 A G rs1400777 SPATA1 Synonymous SNV L396L 0.388 0.378 0.49 170 455 145 0.436 144 108 38 37 40 15.25 3086 chr10 91488979 91488979 A T rs3758388 KIF20B Nonsynonymous SNV H789L 0.132 0.18 0.007 76 155 69 0.195 2 8 11 1 12 1.754 3087 chr11 1018169 1018169 C G rs77647814 MUC6 Synonymous SNV T1544T 0.49 0.49 0.095 190 575 188 0.487 28 0 0 0 0 8.47 3088 chr10 96741053 96741053 A C rs1057910 CYP2C9 Nonsynonymous SNV I359L 0.077 0.068 0.112 45 90 26 0.115 33 3 1 1 2 drug response 20.4 3089 chr1 85029077 85029077 C T rs15911 CTBS Nonsynonymous SNV V274I 0.213 0.201 0.296 98 250 77 0.251 87 44 17 15 18 22.7 3090 chr10 94714427 94714427 C G rs11187225 EXOC6 Nonsynonymous SNV L420V 0.077 0.086 0.082 26 90 33 0.067 24 4 3 0 1 18.68 3091 chr11 1018295 1018295 T C rs73403297 MUC6 Nonsynonymous SNV I1502M 0.445 0.427 0.085 167 522 164 0.428 25 0 0 0 0 0.001 3092 chr1 65210972 65210972 G A rs149969748 RAVER2 Synonymous SNV E39E 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 6.797 3093 chr11 1018316 1018316 G A rs201954368 MUC6 Synonymous SNV S1495S 0.064 0.083 0.024 20 75 32 0.051 7 0 0 0 0 1.511 3094 chr10 96748737 96748737 A T rs1057911 CYP2C9 Synonymous SNV G475G 0.077 0.068 0.112 45 90 26 0.115 33 3 1 1 2 0.01 3095 chr1 85031630 85031630 G A rs2994953 CTBS Synonymous SNV I197I 0.277 0.253 0.35 127 325 97 0.326 103 52 19 19 20 14.64 3096 chr10 96818106 96818106 T A rs11572103 CYP2C8 Nonsynonymous SNV I167F 0.009 0.016 0.014 4 10 6 0.01 4 0 0 0 0 Benign 25.4 3097 chr11 101832478 101832478 G T rs7926728 CEP126 Nonsynonymous SNV G238C 0.998 1 0.997 389 1172 384 0.997 293 586 192 146 194 13.13 3098 chr10 97371146 97371146 G A rs1804934 ALDH18A1 Synonymous SNV S447S 0.02 0.034 0.017 8 23 13 0.021 5 0 0 0 0 Benign/Likely benign 14.5 3099 chr1 85039955 85039955 G A rs2303307 CTBS Synonymous SNV L48L 0.339 0.305 0.374 136 398 117 0.349 110 65 20 21 24 8.755 3100 chr10 94824166 94824166 G A rs11187265 CYP26C1 Nonsynonymous SNV R245Q 0.062 0.076 0.061 25 73 29 0.064 18 4 1 0 0 11.09 3101 chr1 85039999 85040007 GCAGCGCCA - rs142534762 CTBS L31_L33del 0.365 0.326 0.415 152 428 125 0.39 122 82 24 26 32 3102 chr10 97607165 97607165 G A rs3181122 ENTPD1-AS1 0.255 0.234 0.214 95 299 90 0.244 63 34 7 6 9 6.598 3103 chr11 101833644 101833644 C T rs7109233 CEP126 Synonymous SNV T626T 0.95 0.956 0.959 375 1115 367 0.962 282 531 175 136 180 2.67 3104 chr1 85040069 85040069 G A rs2911592 CTBS Synonymous SNV R10R 0.301 0.266 0.32 120 353 102 0.308 94 55 19 19 21 9.493 3105 chr11 1018355 1018355 A G rs7396697 MUC6 Synonymous SNV G1482G 0.39 0.424 0.143 147 458 163 0.377 42 0 0 0 0 0.253 3106 chr1 65312342 65312342 G A rs17127063 JAK1 Synonymous SNV R659R 0.027 0.034 0.024 7 32 13 0.018 7 0 0 0 0 7.786 3107 chr10 81927059 81927059 C T rs2229554 ANXA11 Nonsynonymous SNV R191Q 0.046 0.049 0.048 31 54 19 0.079 14 1 1 0 2 27.6 3108 chr1 85040070 85040070 C A rs115347546 CTBS Nonsynonymous SNV R10L 0.273 0.253 0.272 107 321 97 0.274 80 48 17 15 18 17.64 3109 chr11 1018374 1018374 T A rs7396383 MUC6 Nonsynonymous SNV N1476I 0.792 0.737 0.803 300 930 283 0.769 236 346 94 92 108 6.263 3110 chr10 96961911 96961911 C A rs897652019 ACSM6 Nonsynonymous SNV T121K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 20.8 3111 chr11 101857758 101857758 G A rs6590942 CEP126 Nonsynonymous SNV S1077N 0.948 0.956 0.952 375 1113 367 0.962 280 531 175 135 180 10.26 3112 chr10 96997820 96997820 A G rs1049814 PDLIM1 Synonymous SNV Y284Y 0.146 0.112 0.126 56 171 43 0.144 37 13 2 1 6 0.008 3113 chr1 85113203 85113203 T C rs2994949 SSX2IP Synonymous SNV A559A 0.839 0.839 0.806 333 985 322 0.854 237 408 136 98 139 0.005 3114 chr1 85113229 85113229 A G rs1057746 SSX2IP Nonsynonymous SNV C551R 0.593 0.628 0.558 246 696 241 0.631 164 207 80 51 80 11.29 3115 chr11 1019375 1019375 C T rs9704308 MUC6 Synonymous SNV A1310A 0.963 0.961 0.963 369 1130 369 0.946 283 545 177 137 175 14.07 3116 chr11 102477365 102477365 G C rs747943008 MMP20 Nonsynonymous SNV A285G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 3117 chr10 97141487 97141487 G A rs61739184 SORBS1 Synonymous SNV Y326Y 0.026 0.021 0.014 7 31 8 0.018 4 0 0 0 0 6.461 3118 chr1 85488030 85488030 G A rs2028304 MCOLN3 Synonymous SNV L327L 0.862 0.857 0.857 337 1012 329 0.864 252 442 143 108 147 13.51 3119 chr11 102477377 102477377 G T rs1784424 MMP20 Nonsynonymous SNV T281N 0.469 0.503 0.456 185 551 193 0.474 134 142 51 28 40 Benign 0.002 3120 chr10 98172999 98172999 C T rs41291632 TLL2 Nonsynonymous SNV R333Q 0.046 0.039 0.01 8 54 15 0.021 3 1 1 0 0 24.5 3121 chr1 85594466 85594466 G A rs709783 WDR63 Nonsynonymous SNV R759H 0.202 0.203 0.207 78 237 78 0.2 61 19 7 8 5 14.28 3122 chr10 97146820 97146820 C A rs10159602 SORBS1 Nonsynonymous SNV A452S 0.16 0.154 0.078 45 188 59 0.115 23 24 2 2 2 11.59 3123 chr11 102477395 102477395 A G rs1784423 MMP20 Nonsynonymous SNV V275A 0.469 0.503 0.456 185 551 193 0.474 134 142 51 28 40 Benign 0.027 3124 chr1 85624549 85624549 C T rs709786 SYDE2 Nonsynonymous SNV V1157I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.96 3125 chr1 67279835 67279835 G A rs148734945 WDR78 Nonsynonymous SNV S842F 0.009 0.005 0.003 6 10 2 0.015 1 0 0 0 0 2.53 3126 chr10 97174352 97174352 T C rs2281939 SORBS1 Nonsynonymous SNV T228A 0.074 0.052 0.088 24 87 20 0.062 26 7 0 0 0 6.571 3127 chr11 102495998 102495998 T G rs2245803 MMP20 Nonsynonymous SNV K18T 0.637 0.659 0.588 235 748 253 0.603 173 249 89 50 70 Benign 11.95 3128 chr10 95082882 95082882 G A rs34048939 MYOF Synonymous SNV D1790D 0.127 0.125 0.122 39 149 48 0.1 36 10 7 4 2 12.1 3129 chr1 85624864 85624864 G A rs817412 SYDE2 Synonymous SNV L1052L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.808 3130 chr10 97174537 97174537 C A rs7081076 SORBS1 Nonsynonymous SNV G166V 0.032 0.029 0.027 10 38 11 0.026 8 0 0 0 0 25.3 3131 chr1 67313249 67313249 G A rs57010209 WDR78 Synonymous SNV D403D 0.049 0.044 0.054 14 57 17 0.036 16 2 0 1 0 10.55 3132 chr10 95082894 95082894 G A rs35527060 MYOF Synonymous SNV D1786D 0.127 0.125 0.122 39 149 48 0.1 36 10 7 4 2 11.87 3133 chr11 102563739 102563739 C T rs1276289 MMP27 Synonymous SNV G409G 0.433 0.458 0.429 153 508 176 0.392 126 106 44 28 31 8.805 3134 chr1 85648620 85648620 C T rs817443 SYDE2 Nonsynonymous SNV V569I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.012 3135 chr11 102567207 102567207 T A rs1276286 MMP27 Nonsynonymous SNV E266V 0.433 0.458 0.429 153 508 176 0.392 126 106 44 28 31 0.068 3136 chr1 85666327 85666327 T C rs817456 SYDE2 Nonsynonymous SNV E118G 0.139 0.172 0.136 65 163 66 0.167 40 14 3 2 6 18.05 3137 chr11 102576358 102576358 T C rs2846707 MMP27 Nonsynonymous SNV M30V 0.769 0.758 0.755 296 903 291 0.759 222 351 112 83 116 0.001 3138 chr10 98469507 98469507 C A rs3748229 PIK3AP1 Nonsynonymous SNV A83S 0.441 0.406 0.439 158 518 156 0.405 129 115 31 34 32 10.86 3139 chr1 86375654 86375654 C G rs1502657 COL24A1 Synonymous SNV P183P 0.725 0.734 0.782 291 851 282 0.746 230 311 102 90 109 16.05 3140 chr11 102576375 102576375 G A rs1939015 MMP27 Nonsynonymous SNV T24M 0.784 0.776 0.816 318 921 298 0.815 240 356 116 99 130 0.063 3141 chr10 98803252 98803252 G A rs35388136 SLIT1 Synonymous SNV R624R 0.124 0.161 0.102 54 146 62 0.138 30 7 8 3 3 11.46 3142 chr1 86512536 86512536 C T rs60891279 COL24A1 Nonsynonymous SNV R641H 0.153 0.164 0.136 54 180 63 0.138 40 18 7 3 3 24 3143 chr10 95276718 95276718 T C rs7072484 CEP55 Nonsynonymous SNV C236R 0.047 0.026 0.031 19 55 10 0.049 9 0 0 0 0 9.525 3144 chr11 102593248 102593248 T C rs1940475 MMP8 Nonsynonymous SNV K87E 0.563 0.57 0.561 227 661 219 0.582 165 180 60 42 64 Benign 5.667 3145 chr10 91099435 91099435 G A rs35430629 IFIT3 Synonymous SNV T341T 0.02 0.023 0.027 9 24 9 0.023 8 0 0 1 0 10.5 3146 chr1 86557967 86557967 G A rs11161732 COL24A1 Nonsynonymous SNV P546S 0.339 0.419 0.442 121 398 161 0.31 130 121 46 29 29 17.46 3147 chr10 97772358 97772358 A G rs17383738 CC2D2B Nonsynonymous SNV N64D 0.128 0.117 0.129 50 150 45 0.128 38 4 1 4 3 11.81 3148 chr10 85961608 85961608 C T rs151204356 CDHR1 Nonsynonymous SNV R191C 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 Benign 34 3149 chr11 102595492 102595492 G A rs3765620 MMP8 Nonsynonymous SNV T32I 0.619 0.612 0.622 251 727 235 0.644 183 220 70 55 81 Benign 0.022 3150 chr10 91162182 91162182 C T rs41284944 IFIT1 Synonymous SNV Y50Y 0.043 0.039 0.037 22 51 15 0.056 11 0 0 1 1 1.169 3151 chr10 99125949 99125949 C T rs2275580 RRP12 Nonsynonymous SNV G1045S 0.572 0.57 0.571 236 671 219 0.605 168 198 65 49 73 24.6 3152 chr1 86590915 86590915 G A rs2174767 COL24A1 Synonymous SNV S368S 0.997 1 0.993 387 1171 384 0.992 292 584 192 145 192 0.099 3153 chr10 85991784 85991784 T C rs3814211 LRIT1 Nonsynonymous SNV S591G 0.055 0.081 0.068 16 65 31 0.041 20 2 1 0 1 18.36 3154 chr11 102650246 102650246 G A rs17860949 MMP10 Synonymous SNV H112H 0.11 0.128 0.129 49 129 49 0.126 38 8 6 1 4 3.242 3155 chr1 86591837 86591837 G A rs11161747 COL24A1 Nonsynonymous SNV A61V 0.793 0.755 0.823 286 931 290 0.733 242 370 113 99 103 11.53 3156 chr11 102650424 102650424 C T rs486055 MMP10 Nonsynonymous SNV R53K 0.088 0.078 0.105 38 103 30 0.097 31 3 1 1 2 11.07 3157 chr10 95095792 95095792 A G rs79155397 MYOF Synonymous SNV C1470C 0.12 0.12 0.092 34 141 46 0.087 27 9 4 1 2 0.324 3158 chr10 95111005 95111005 T C rs35669278 MYOF Synonymous SNV L1277L 0.121 0.115 0.082 33 142 44 0.085 24 9 3 0 2 6.805 3159 chr11 102666316 102666316 T C rs470558 MMP1 Synonymous SNV A150A 0.951 0.958 0.956 366 1117 368 0.938 281 532 177 134 171 Benign 1.022 3160 chr1 86818572 86818572 T C rs272496 ODF2L Synonymous SNV E539E 0.709 0.711 0.316 259 832 273 0.664 93 290 95 43 86 1.396 3161 chr10 95259886 95259886 A G rs536399744 CEP55 Synonymous SNV T26T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.209 3162 chr1 67833527 67833527 G C rs2307145 IL12RB2 Nonsynonymous SNV Q426H 0.059 0.078 0.071 37 69 30 0.095 21 3 2 0 2 10.72 3163 chr10 96076495 96076495 C G rs942676 PLCE1 Synonymous SNV V1800V 0.105 0.117 0.105 49 123 45 0.126 31 5 1 2 5 Benign 11.78 3164 chr11 1027811 1027811 C T rs7481521 MUC6 Nonsynonymous SNV V619M 0.551 0.536 0.541 216 647 206 0.554 159 180 59 45 63 14.39 3165 chr1 86820267 86820267 C T rs1182098 ODF2L Synonymous SNV E489E 0.716 0.724 0.731 262 840 278 0.672 215 295 98 79 86 14.45 3166 chr11 1028379 1028379 C T rs116256283 MUC6 Nonsynonymous SNV G534S 0.034 0.013 0.037 5 40 5 0.013 11 0 0 0 0 24.9 3167 chr10 99219885 99219885 G A rs2152092 MMS19 Synonymous SNV A760A 0.485 0.505 0.466 163 569 194 0.418 137 132 42 32 35 14.45 3168 chr1 86822231 86822231 A G rs385437 ODF2L Synonymous SNV L312L 0.119 0.125 0.139 49 140 48 0.126 41 14 2 2 3 0.397 3169 chr10 96447920 96447920 C T rs117111102 CYP2C18 Nonsynonymous SNV R124W 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 27.3 3170 chr1 86847955 86847955 G A rs272516 ODF2L Synonymous SNV A67A 0.311 0.286 0.238 126 365 110 0.323 70 77 14 15 21 10.57 3171 chr11 103019260 103019260 G A rs61898615 DYNC2H1 Nonsynonymous SNV E954K 0.026 0.008 0.02 14 31 3 0.036 6 0 0 0 1 Benign/Likely benign 24 3172 chr1 68603586 68603586 C T rs983034 WLS Nonsynonymous SNV V374I 0.376 0.378 0.371 151 442 145 0.387 109 95 27 21 27 22.5 3173 chr1 86900332 86900332 T C rs17449526 CLCA2 Synonymous SNV N292N 0.291 0.276 0.279 127 342 106 0.326 82 44 12 12 18 6.656 3174 chr10 99240048 99240048 C T rs7897727 MMS19 Nonsynonymous SNV R110Q 0.441 0.451 0.296 148 518 173 0.379 87 136 44 30 35 8.726 3175 chr1 70503937 70503937 G A rs12567778 LRRC7 Synonymous SNV S811S 0.024 0.016 0.031 10 28 6 0.026 9 0 0 0 0 0.234 3176 chr11 103027234 103027234 A G rs17301750 DYNC2H1 Nonsynonymous SNV T1288A 0.082 0.052 0.078 32 96 20 0.082 23 3 1 0 3 Benign/Likely benign 7.374 3177 chr1 86900372 86900372 C G rs17409304 CLCA2 Nonsynonymous SNV Q306E 0.29 0.276 0.279 127 341 106 0.326 82 44 12 12 18 27.7 3178 chr11 103047007 103047007 C A rs585692 DYNC2H1 Synonymous SNV T1906T 0.913 0.93 0.905 355 1072 357 0.91 266 501 167 122 163 Benign 16.77 3179 chr1 86904588 86904588 C T rs11161830 CLCA2 Synonymous SNV A334A 0.142 0.102 0.119 49 167 39 0.126 35 10 1 5 4 17.84 3180 chr11 103057048 103057048 A G rs658804 DYNC2H1 Synonymous SNV R2237R 0.69 0.719 0.673 271 810 276 0.695 198 278 99 68 94 Benign 0.105 3181 chr1 86909493 86909493 C T rs2390059 CLCA2 Synonymous SNV V504V 0.141 0.107 0.122 49 165 41 0.126 36 9 1 5 4 6.975 3182 chr10 97174269 97174269 C T rs11188316 SORBS1 Synonymous SNV T255T 0.032 0.039 0.044 12 38 15 0.031 13 0 0 0 2 12.96 3183 chr11 103058126 103058126 C T rs586592 DYNC2H1 Synonymous SNV H2317H 0.693 0.729 0.673 272 813 280 0.697 198 278 102 67 95 Benign 7.505 3184 chr10 99332488 99332488 A C rs12221474 ANKRD2 Synonymous SNV A8A 0.236 0.24 0.259 91 277 92 0.233 76 36 10 12 8 1.64 3185 chr1 86909582 86909582 G A rs1413426 CLCA2 Nonsynonymous SNV G534D 0.141 0.107 0.122 49 165 41 0.126 36 9 1 5 4 0.515 3186 chr11 103082558 103082558 A G rs17394217 DYNC2H1 Synonymous SNV E2860E 0.065 0.036 0.071 27 76 14 0.069 21 3 1 0 3 Benign/Likely benign 8.514 3187 chr10 99094120 99094120 C T rs542858899 FRAT2 Synonymous SNV P70P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.38 3188 chr11 103124135 103124135 T G rs11225634 DYNC2H1 Synonymous SNV T3388T 0.085 0.065 0.078 33 100 25 0.085 23 4 1 1 3 Benign 8.943 3189 chr1 86939130 86939130 C T rs2145412 CLCA1 Nonsynonymous SNV L65F 0.975 0.971 0.969 372 1145 373 0.954 285 558 181 138 177 9.915 3190 chr10 97453464 97453464 T G rs11553577 TCTN3 Nonsynonymous SNV T65P 0.043 0.039 0.024 24 51 15 0.062 7 2 0 0 0 Benign 21.1 3191 chr11 103152919 103152919 G A rs12574626 DYNC2H1 Synonymous SNV T3591T 0.088 0.068 0.082 34 103 26 0.087 24 4 1 1 3 Benign 14.74 3192 chr10 99116903 99116903 C T rs1048445 RRP12 Nonsynonymous SNV R1181Q 0.279 0.302 0.316 111 328 116 0.285 93 53 20 14 18 20.6 3193 chr11 103229027 103229027 T C rs2566913 DYNC2H1 Synonymous SNV D4032D 0.655 0.656 0.616 281 769 252 0.721 181 251 88 62 103 Benign 7.037 3194 chr1 86952324 86952324 A G rs2734705 CLCA1 Nonsynonymous SNV N357S 0.842 0.862 0.833 323 989 331 0.828 245 416 144 104 135 7.654 3195 chr10 97599537 97599537 G C rs61731067 ENTPD1 Synonymous SNV V85V 0.044 0.039 0.031 24 52 15 0.062 9 2 0 0 0 7.608 3196 chr11 103907956 103907956 G A rs7102675 DDI1 Nonsynonymous SNV G136S 0.098 0.138 0.109 40 115 53 0.103 32 7 4 0 3 0.009 3197 chr10 99126249 99126249 G A rs2275581 RRP12 Synonymous SNV D1015D 0.258 0.276 0.282 95 303 106 0.244 83 45 15 12 13 11.2 3198 chr1 86959173 86959173 T C rs2791494 CLCA1 Nonsynonymous SNV M524T 0.803 0.852 0.84 335 943 327 0.859 247 381 139 102 142 0.004 3199 chr10 96098373 96098373 C T rs17517578 NOC3L Nonsynonymous SNV A695T 0.191 0.214 0.259 73 224 82 0.187 76 15 7 10 6 6.381 3200 chr1 74670172 74670172 A G rs12046751 FPGT Synonymous SNV K160K 0.463 0.461 0.449 184 543 177 0.472 132 114 39 32 42 0.378 3201 chr10 99141205 99141205 A G rs2275089 RRP12 Synonymous SNV A352A 0.338 0.346 0.344 120 397 133 0.308 101 68 24 18 20 0.477 3202 chr11 103908735 103908735 G A rs1052313 DDI1 Synonymous SNV E395E 0.394 0.37 0.374 151 462 142 0.387 110 89 29 24 28 2.673 3203 chr11 104761100 104761100 T C rs513131 CASP12 Nonsynonymous SNV H273R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 22.5 3204 chr10 99141484 99141484 C T rs12218483 RRP12 Synonymous SNV T336T 0.267 0.284 0.282 94 313 109 0.241 83 47 15 12 13 13.43 3205 chr1 87045897 87045902 CCTACA - rs4001061 CLCA4 T886_P887del 0.751 0.753 0.728 293 882 289 0.751 214 338 105 78 113 3206 chr10 99439541 99439541 G C rs2275047 AVPI1 Nonsynonymous SNV A41G 0.386 0.367 0.344 145 453 141 0.372 101 85 30 20 31 15.38 3207 chr10 97791761 97791761 A T rs1336459 CC2D2B Nonsynonymous SNV Q322L 0.031 0.031 0.007 14 36 12 0.036 2 1 0 0 0 23.7 3208 chr11 104761206 104761206 C T rs647039 CASP12 Nonsynonymous SNV G238S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.034 3209 chr1 89225976 89225976 T C rs430600 PKN2 Synonymous SNV L141L 0.717 0.693 0.673 272 842 266 0.697 198 307 91 68 92 0.319 3210 chr10 99155984 99155984 G A rs3814553 RRP12 Synonymous SNV F148F 0.338 0.346 0.344 120 397 133 0.308 101 68 24 18 20 14.32 3211 chr1 89237556 89237556 C T rs9651072 PKN2 Synonymous SNV L170L 0.032 0.052 0.041 15 38 20 0.038 12 0 3 1 2 11.49 3212 chr11 104763117 104763117 G A rs497116 CASP12 Stop gain R125X 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 Likely benign 27.3 3213 chr10 99160152 99160152 A G rs1048442 RRP12 Synonymous SNV G93G 0.33 0.339 0.344 120 387 130 0.308 101 66 24 18 20 0.364 3214 chr10 99439556 99439556 A C rs11556392 AVPI1 Nonsynonymous SNV L36R 0.056 0.055 0.068 9 66 21 0.023 20 4 2 1 0 27.6 3215 chr10 96541616 96541616 G A rs4244285 CYP2C19 Synonymous SNV P227P 0.124 0.125 0.109 49 145 48 0.126 32 10 5 2 3 drug response 5.686 3216 chr1 89273287 89273287 G A rs6671949 PKN2 Synonymous SNV K622K 0.024 0.036 0.027 13 28 14 0.033 8 0 1 0 2 16.7 3217 chr11 104768000 104768000 G A rs693001 CASP12 Nonsynonymous SNV T68I 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.045 3218 chr1 89322982 89322982 G A rs2794318 GTF2B Synonymous SNV L242L 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 2.729 3219 chr10 99439673 99439673 C G rs3818780 AVPI1 0.21 0.195 0.173 83 247 75 0.213 51 22 9 4 8 23.4 3220 chr11 104768098 104768098 T C rs555367 CASP12 Synonymous SNV V35V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.597 3221 chr1 89426902 89426902 G A rs3738055 KYAT3 Synonymous SNV S211S 0.422 0.492 0.415 184 495 189 0.472 122 105 49 21 47 13.35 3222 chr11 104819327 104819327 T C rs9507 CASP4 Synonymous SNV L286L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.109 3223 chr1 89426956 89426956 C T rs12063768 KYAT3 Synonymous SNV E193E 0.006 0.008 0.01 0 7 3 0 3 0 0 0 0 11.51 3224 chr11 104825649 104825649 C T rs1801319 CASP4 Synonymous SNV L29L 0.07 0.089 0.065 15 82 34 0.038 19 4 2 0 2 6.17 3225 chr10 90341359 90341359 A G rs140158928 RNLS Nonsynonymous SNV I111T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 23.5 3226 chr1 89453956 89453956 G C rs145055133 KYAT3 Nonsynonymous SNV I26M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.014 3227 chr11 104866515 104866515 G A rs141361242 CASP5 Stop gain R279X 0.001 0 0.007 0 1 0 0 2 0 0 0 0 35 3228 chr11 104869708 104869708 G C rs523104 CASP5 Nonsynonymous SNV L192V 0.557 0.547 0.565 212 654 210 0.544 166 176 60 53 58 0.002 3229 chr10 90524335 90524335 C T rs41284088 LIPN Nonsynonymous SNV S132L 0.032 0.047 0.034 22 38 18 0.056 10 1 0 0 0 29.7 3230 chr1 89473522 89473522 A G rs11808228 GBP3 Nonsynonymous SNV V424A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.81 3231 chr1 75037858 75037860 CCT - rs10539747 ERICH3 G1179del 0.083 0.089 0.051 20 97 34 0.051 15 0 0 0 0 3232 chr10 96971638 96971638 G A rs75252129 ACSM6 Synonymous SNV R253R 0.099 0.089 0.099 47 116 34 0.121 29 11 2 0 3 8.507 3233 chr1 75055419 75055419 T C rs2305549 ERICH3 Nonsynonymous SNV H691R 0.083 0.086 0.061 20 98 33 0.051 18 1 0 0 0 1.573 3234 chr10 99625319 99625319 C T rs56007204 CRTAC1 Nonsynonymous SNV E658K 0.225 0.234 0.269 86 264 90 0.221 79 31 8 10 9 19.12 3235 chr10 99332379 99332381 GGC - rs17107819 ANKRD2 W58_P59delinsS 0.026 0.013 0.007 9 30 5 0.023 2 1 0 0 0 3236 chr11 10521764 10521764 T C rs3741041 AMPD3 Synonymous SNV Y404Y 0.417 0.406 0.391 159 489 156 0.408 115 108 37 16 30 Benign 0.309 3237 chr1 89474818 89474818 A G rs17433780 GBP3 Nonsynonymous SNV C357R 0.339 0.307 0.262 134 398 118 0.344 77 67 20 14 22 0.002 3238 chr11 10555589 10555589 A G rs1065052 RNF141 Synonymous SNV L39L 0.417 0.396 0.371 152 490 152 0.39 109 107 35 15 26 5.582 3239 chr1 75088911 75088911 A G rs1417586 ERICH3-AS1 0.155 0.109 0 43 182 42 0.11 0 12 1 0 2 5.305 3240 chr10 99655648 99655648 G T rs577537 CRTAC1 Synonymous SNV G437G 0.122 0.125 0.109 31 143 48 0.079 32 13 3 2 1 5.414 3241 chr11 10647702 10647702 G A rs2241489 MRVI1 Synonymous SNV L78L 0.497 0.443 0.452 175 583 170 0.449 133 154 39 26 36 5.512 3242 chr10 97096555 97096555 C T rs114088633 SORBS1 Nonsynonymous SNV R1121H 0.033 0.023 0.024 4 39 9 0.01 7 0 0 0 0 23 3243 chr1 75672376 75672376 A G rs1948874 SLC44A5 Synonymous SNV S686S 0.407 0.404 0.425 140 478 155 0.359 125 83 34 28 22 6.479 3244 chr10 97388162 97388162 G A rs2275272 ALDH18A1 Nonsynonymous SNV T87I 0.175 0.174 0.16 60 205 67 0.154 47 19 5 4 4 Benign 25.4 3245 chr11 10650329 10650329 C T rs2278125 MRVI1 Synonymous SNV R198R 0.56 0.508 0.503 206 658 195 0.528 148 183 54 37 55 9.031 3246 chr11 10655609 10655609 C T rs2162044 MRVI1 Nonsynonymous SNV A70T 0.985 0.987 0.976 388 1156 379 0.995 287 569 187 140 193 0.071 3247 chr1 89475135 89475135 C T rs10493821 GBP3 Nonsynonymous SNV V335M 0.333 0.305 0.286 134 391 117 0.344 84 63 20 14 22 1.855 3248 chr11 10673739 10673739 T C rs4909945 MRVI1 Nonsynonymous SNV I11V 0.676 0.674 0.629 271 794 259 0.695 185 280 88 59 95 17.56 3249 chr11 100061865 100061865 A G rs11223168 CNTN5 Nonsynonymous SNV I456V 0.078 0.094 0.085 31 91 36 0.079 25 3 0 0 1 10.68 3250 chr1 89637578 89637578 G A rs676913 GBP7 Nonsynonymous SNV T14I 0.624 0.617 0.636 240 732 237 0.615 187 226 76 58 68 0.002 3251 chr10 95276742 95276742 G C rs41308663 CEP55 Nonsynonymous SNV A244P 0.047 0.047 0.034 18 55 18 0.046 10 2 1 0 1 26.4 3252 chr10 99358901 99358901 G A rs41290456 HOGA1 Synonymous SNV A132A 0.049 0.052 0.041 24 57 20 0.062 12 0 0 0 1 Likely benign 12.46 3253 chr10 97698338 97698338 G A rs35298116 CC2D2B Nonsynonymous SNV R183H 0.161 0.164 0.136 61 189 63 0.156 40 10 6 4 4 0.068 3254 chr11 10711918 10711918 - A rs397966784 MRVI1 0.229 0.237 0.221 110 269 91 0.282 65 4 1 0 0 3255 chr11 100226883 100226883 T A rs1216183 CNTN5 Nonsynonymous SNV S1005T 0.127 0.089 0.146 50 149 34 0.128 43 5 3 5 3 0.01 3256 chr1 89652071 89652071 T C rs561042 GBP4 Nonsynonymous SNV E551G 0.473 0.484 0.306 191 555 186 0.49 90 127 45 26 44 0.479 3257 chr10 97731908 97731908 C T rs35557930 CC2D2B Nonsynonymous SNV A577V 0.221 0.198 0.221 80 260 76 0.205 65 24 8 6 10 0.132 3258 chr11 10715124 10715124 T C rs10770136 MRVI1 Nonsynonymous SNV E9G 0.761 0.768 0.731 301 894 295 0.772 215 341 115 80 113 22 3259 chr10 99400646 99400646 G A rs7909659 PI4K2A Synonymous SNV P49P 0.014 0.021 0.024 6 16 8 0.015 7 0 0 0 0 14.08 3260 chr10 99410790 99410790 T C rs7915721 PI4K2A Synonymous SNV P176P 0.189 0.193 0.187 67 222 74 0.172 55 22 5 5 6 4.295 3261 chr1 76269460 76269460 G A rs5745325 MSH4 Nonsynonymous SNV A97T 0.403 0.38 0.388 131 473 146 0.336 114 99 29 24 29 0.558 3262 chr1 89652072 89652072 C T rs561037 GBP4 Nonsynonymous SNV E551K 0.473 0.484 0.303 191 555 186 0.49 89 127 45 26 44 0.01 3263 chr11 107420530 107420530 A G rs645056 ALKBH8 Synonymous SNV D243D 0.809 0.799 0.772 307 950 307 0.787 227 381 127 87 123 9.268 3264 chr10 97752432 97752432 A T rs116888913 CC2D2B Nonsynonymous SNV T874S 0.026 0.039 0.014 11 30 15 0.028 4 1 0 0 0 8.53 3265 chr11 107917087 107917087 A G rs7117111 CUL5 Synonymous SNV Q75Q 0.631 0.641 0.616 256 741 246 0.656 181 243 77 57 86 6.376 3266 chr1 76344711 76344711 A T rs5745449 MSH4 Synonymous SNV L525L 0.805 0.763 0.752 302 945 293 0.774 221 381 116 80 114 11.63 3267 chr11 107992346 107992346 G C rs3741056 ACAT1 Nonsynonymous SNV A5P 0.392 0.404 0.395 155 460 155 0.397 116 91 35 26 29 Benign 17.6 3268 chr1 89652078 89652078 A T rs608339 GBP4 Nonsynonymous SNV L549M 0.473 0.484 0.323 191 555 186 0.49 95 127 45 27 44 0.001 3269 chr11 1016640 1016640 G A rs111704427 MUC6 Nonsynonymous SNV A2054V 0.358 0.372 0.058 133 420 143 0.341 17 0 0 0 0 17.34 3270 chr1 77763527 77763527 A G rs145622294 AK5 Synonymous SNV T172T 0.016 0.016 0.017 5 19 6 0.013 5 0 0 0 0 4.979 3271 chr11 108032676 108032676 G A rs117925274 NPAT Nonsynonymous SNV P1053L 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 21.7 3272 chr1 89652087 89652087 C T rs1142890 GBP4 Nonsynonymous SNV E546K 0.473 0.484 0.32 191 555 186 0.49 94 127 45 27 44 0.017 3273 chr11 1016655 1016655 G A rs77024070 MUC6 Nonsynonymous SNV P2049L 0.357 0.38 0.126 132 419 146 0.338 37 0 0 0 0 0.216 3274 chr11 108183167 108183167 A G rs659243 ATM Nonsynonymous SNV N1983S 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 Benign 0.014 3275 chr1 89652088 89652088 C G rs1142889 GBP4 Nonsynonymous SNV M545I 0.473 0.484 0.316 191 555 186 0.49 93 127 45 27 44 4.282 3276 chr11 10822350 10822350 C T rs7951708 EIF4G2 Synonymous SNV P486P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.66 3277 chr11 10823079 10823079 T C rs10840492 SNORD97 0.392 0.396 0.67 198 460 152 0.508 197 206 64 66 88 0.005 3278 chr1 89652090 89652090 T G rs1142888 GBP4 Nonsynonymous SNV M545L 0.473 0.484 0.32 191 555 186 0.49 94 127 45 27 44 0.001 3279 chr11 108380335 108380335 T C rs1943382 EXPH5 Nonsynonymous SNV N1779D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.905 3280 chr11 1016704 1016704 C A rs75826443 MUC6 Nonsynonymous SNV A2033S 0.376 0.357 0.395 146 441 137 0.374 116 0 0 0 0 0.026 3281 chr10 99640120 99640120 C T rs2297935 CRTAC1 Nonsynonymous SNV V569M 0.02 0.029 0.024 11 24 11 0.028 7 1 0 0 0 25.3 3282 chr1 89652094 89652094 G A rs1142887 GBP4 Synonymous SNV A543A 0.473 0.484 0.333 191 555 186 0.49 98 127 45 28 44 4.871 3283 chr11 1093430 1093430 C A rs199573018 MUC2 Nonsynonymous SNV T1750N 0.004 0.008 0.252 3 5 3 0.008 74 0 0 0 0 0.085 3284 chr1 89652097 89652097 C T rs1142886 GBP4 Nonsynonymous SNV M542I 0.473 0.484 0.337 191 555 186 0.49 99 127 45 28 44 0.001 3285 chr10 99664456 99664456 T C rs7068503 CRTAC1 Synonymous SNV Q322Q 0.066 0.036 0.037 29 77 14 0.074 11 2 1 1 2 0.057 3286 chr11 1093512 1093512 C A rs34493663 MUC2 Synonymous SNV T1777T 0.019 0.023 0.218 5 22 9 0.013 64 0 0 0 0 12.4 3287 chr10 99969568 99969568 A G rs11189513 R3HCC1L Nonsynonymous SNV H566R 0.335 0.323 0.299 144 393 124 0.369 88 63 23 11 26 0.001 3288 chr1 79357360 79357360 G C rs2275902 ADGRL4 Nonsynonymous SNV A620G 0.294 0.307 0.286 134 345 118 0.344 84 50 15 10 22 32 3289 chr11 1093710 1093710 C G rs7944723 MUC2 Synonymous SNV P1843P 0.748 0.742 0.776 296 878 285 0.759 228 333 105 92 115 1.323 3290 chr1 89652102 89652102 A T rs655260 GBP4 Nonsynonymous SNV Y541N 0.473 0.484 0.327 191 555 186 0.49 96 127 45 27 44 0.001 3291 chr11 1094690 1094690 C T rs10794291 MUC2 Synonymous SNV T1926T 0.526 0.503 0.524 200 618 193 0.513 154 160 50 45 56 8.002 3292 chr11 1016869 1016869 A T rs35469308 MUC6 Nonsynonymous SNV F1978I 0.497 0.497 0.48 194 583 191 0.497 141 0 0 0 0 0.007 3293 chr11 1094753 1094753 A C rs10794292 MUC2 Synonymous SNV P1947P 0.595 0.573 0.595 226 698 220 0.579 175 214 66 57 71 0.002 3294 chr1 89655783 89655783 T C rs1831240 GBP4 Nonsynonymous SNV I379V 0.008 0.005 0.003 3 9 2 0.008 1 1 0 0 0 4.292 3295 chr11 1096494 1096494 T C rs6421972 MUC2 Synonymous SNV C2173C 0.596 0.573 0.599 227 700 220 0.582 176 215 66 57 72 0.732 3296 chr11 10019878 10019878 C G rs781039677 SBF2 Nonsynonymous SNV E304Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 3297 chr11 110035262 110035262 A G rs1026608 ZC3H12C Synonymous SNV R484R 0.301 0.336 0.323 139 353 129 0.356 95 49 21 15 23 1.283 3298 chr1 89655994 89655994 C T rs1410871 GBP4 Synonymous SNV G308G 0.047 0.047 0.044 22 55 18 0.056 13 1 1 1 0 10.31 3299 chr11 110035301 110035301 A G rs1026607 ZC3H12C Synonymous SNV T497T 0.301 0.336 0.327 139 353 129 0.356 96 49 21 16 23 0.019 3300 chr10 93776171 93776171 T C rs147960886 BTAF1 Synonymous SNV L1553L 0.011 0.021 0 2 13 8 0.005 0 0 0 0 0 3.616 3301 chr11 1016894 1016894 G A rs34281988 MUC6 Synonymous SNV H1969H 0.489 0.497 0.483 192 574 191 0.492 142 0 0 0 0 3.207 3302 chr11 1101649 1101649 T C rs7480563 MUC2 Synonymous SNV P2554P 0.431 0.432 0.48 198 506 166 0.508 141 112 39 36 49 0.003 3303 chr1 89847372 89847372 G T rs4658359 GBP6 Nonsynonymous SNV A201S 0.726 0.729 0.745 263 852 280 0.674 219 312 105 81 87 14 3304 chr11 1016910 1016910 G A rs113559934 MUC6 Nonsynonymous SNV T1964I 0.487 0.495 0.395 190 572 190 0.487 116 0 0 0 0 23.3 3305 chr1 82456585 82456585 G A rs41292984 ADGRL2 Nonsynonymous SNV R1323K 0.085 0.089 0.068 26 100 34 0.067 20 6 1 0 2 19.11 3306 chr11 111179054 111179054 A G rs3087587 COLCA2 Synonymous SNV A119A 0.545 0.51 0.558 186 640 196 0.477 164 175 49 50 41 0.049 3307 chr11 111368047 111368047 G T rs489078 BTG4 Synonymous SNV A133A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.853 3308 chr1 89847411 89847411 C T rs4658360 GBP6 Nonsynonymous SNV L214F 0.726 0.729 0.741 263 852 280 0.674 218 312 105 80 87 0.001 3309 chr10 98105840 98105840 G A rs61858888 OPALIN Nonsynonymous SNV T72M 0.036 0.031 0.01 4 42 12 0.01 3 1 0 0 0 18.18 3310 chr11 111383789 111383789 C T rs11606481 LOC728196 0 0 0.578 0 0 0 0 170 0 0 50 0 10.11 3311 chr11 111384006 111384006 G A rs2156719 LOC728196 0 0 0.983 0 0 0 0 289 0 0 144 0 7.049 3312 chr11 111420364 111420364 A G rs634679 LAYN Synonymous SNV P135P 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 5.845 3313 chr10 98155678 98155678 G A rs41291628 TLL2 Nonsynonymous SNV T495M 0.02 0.023 0.031 9 24 9 0.023 9 1 0 0 0 17.83 3314 chr1 89847425 89847425 G A rs147100867 GBP6 Synonymous SNV T218T 0.01 0.01 0.007 1 12 4 0.003 2 0 0 0 0 12.77 3315 chr11 111608258 111608258 C G rs45568137 PPP2R1B Nonsynonymous SNV V545L 0.022 0.013 0.041 11 26 5 0.028 12 0 0 0 0 23.5 3316 chr1 84867610 84867610 G A rs3754274 DNASE2B Nonsynonymous SNV R51K 0.228 0.206 0.19 63 268 79 0.162 56 33 6 4 8 10.24 3317 chr1 89847444 89847444 A G rs4658146 GBP6 Nonsynonymous SNV M225V 0.726 0.729 0.745 263 852 280 0.674 219 312 105 81 87 0.001 3318 chr10 96100094 96100094 C A rs140939496 NOC3L Synonymous SNV L573L 0.022 0.018 0.017 15 26 7 0.038 5 1 0 0 0 14.14 3319 chr11 1016933 1016933 C T rs199579978 MUC6 Synonymous SNV S1956S 0.406 0.388 0.378 152 477 149 0.39 111 0 0 0 0 11.72 3320 chr11 111724133 111724133 C T rs10502151 ALG9 Nonsynonymous SNV V118I 0.295 0.341 0.282 135 346 131 0.346 83 60 20 11 29 Benign 22.2 3321 chr11 1016934 1016934 G A rs775245122 MUC6 Nonsynonymous SNV S1956L 0.359 0.354 0.041 133 421 136 0.341 12 0 0 0 0 15.21 3322 chr10 99502897 99502897 G A rs17108378 ZFYVE27 Nonsynonymous SNV V82I 0.032 0.018 0.027 4 37 7 0.01 8 2 0 1 0 Benign 7.514 3323 chr1 89849742 89849742 A T rs959460 GBP6 Nonsynonymous SNV D390V 0.929 0.938 0.898 359 1091 360 0.921 264 509 169 119 165 13.41 3324 chr1 84961108 84961108 G A rs7528067 RPF1 Nonsynonymous SNV M223I 0.059 0.065 0.099 21 69 25 0.054 29 0 1 2 2 18.33 3325 chr11 111742146 111742146 G - rs10708475 ALG9 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3326 chr11 111747297 111747297 A G rs7124696 FDXACB1 Synonymous SNV F200F 0.362 0.375 0.395 126 425 144 0.323 116 84 31 23 22 0.002 3327 chr1 90178743 90178743 A G rs474536 LRRC8C Nonsynonymous SNV D205G 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 14.26 3328 chr11 111749349 111749349 A T rs611010 FDXACB1 Nonsynonymous SNV I87N 0.819 0.831 0.847 325 962 319 0.833 249 397 130 107 137 15.33 3329 chr1 84991669 84991669 G C rs10493753 SPATA1 Nonsynonymous SNV V153L 0.057 0.065 0.092 23 67 25 0.059 27 0 1 1 2 0.502 3330 chr11 1016959 1016959 T C rs201219964 MUC6 Nonsynonymous SNV R1948G 0.323 0.297 0.245 117 379 114 0.3 72 0 0 0 0 0.004 3331 chr1 90486412 90486412 T G rs2816881 ZNF326 Synonymous SNV V206V 0.571 0.581 0.599 208 670 223 0.533 176 182 63 51 59 11.29 3332 chr11 111754574 111754574 A C rs1045282 C11orf1 Nonsynonymous SNV Q119P 0.348 0.359 0.381 117 409 138 0.3 112 81 27 21 20 5.429 3333 chr11 1016963 1016963 G T rs76273000 MUC6 Synonymous SNV G1946G 0.483 0.474 0.347 187 567 182 0.479 102 0 0 0 0 0.036 3334 chr1 90493026 90493026 G A rs10922744 ZNF326 Synonymous SNV E299E 0.562 0.576 0.571 205 660 221 0.526 168 178 62 45 57 4.663 3335 chr11 111784229 111784229 C T rs4252588 HSPB2 Synonymous SNV A53A 0.08 0.096 0.088 30 94 37 0.077 26 4 1 0 2 15.8 3336 chr1 85020769 85020769 G A rs138861244 CTBS Synonymous SNV N357N 0.022 0.018 0.017 11 26 7 0.028 5 0 0 0 0 Benign 0.734 3337 chr11 1016968 1016968 T G rs34243203 MUC6 Nonsynonymous SNV T1945P 0.171 0.135 0.129 69 201 52 0.177 38 0 0 0 0 7.41 3338 chr10 95168634 95168634 A G rs2296142 MYOF Synonymous SNV G213G 0.043 0.031 0.024 18 51 12 0.046 7 0 0 0 0 7.763 3339 chr1 91728053 91728053 G A rs585898 HFM1 Synonymous SNV A1357A 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 10.71 3340 chr11 111795085 111795085 C G rs7124407 C11orf52 Nonsynonymous SNV T23R 0.298 0.352 0.282 140 350 135 0.359 83 58 22 10 29 0.22 3341 chr11 1016972 1016972 G A rs764738678 MUC6 Synonymous SNV T1943T 0.284 0.299 0.007 105 333 115 0.269 2 0 0 0 0 3.292 3342 chr10 99696003 99696003 G A rs35027739 CRTAC1 Synonymous SNV I115I 0.143 0.167 0.126 62 168 64 0.159 37 8 5 2 2 13.32 3343 chr1 91781413 91781413 T G rs281992 HFM1 Synonymous SNV I1033I 0.709 0.742 0.701 285 832 285 0.731 206 291 106 78 110 11.2 3344 chr11 111896324 111896324 C T rs2303436 DLAT Nonsynonymous SNV A43V 0.306 0.352 0.313 145 359 135 0.372 92 58 23 13 29 Benign/Likely benign 4.302 3345 chr10 99969507 99969507 C T rs35122894 R3HCC1L Nonsynonymous SNV P546S 0.057 0.076 0.034 29 67 29 0.074 10 3 2 1 2 0.015 3346 chr1 91851193 91851193 G A rs12144808 HFM1 Synonymous SNV I231I 0.123 0.154 0.102 59 144 59 0.151 30 8 3 0 6 8.15 3347 chr10 96702038 96702038 A G CYP2C9 Nonsynonymous SNV I141V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 3348 chr1 91851253 91851253 T C rs282026 HFM1 Synonymous SNV Q211Q 1 0.997 0.986 389 1174 383 0.997 290 587 191 144 194 0.003 3349 chr11 111908162 111908162 T C rs627441 DLAT Nonsynonymous SNV V225A 0.313 0.333 0.333 151 367 128 0.387 98 64 25 13 34 Benign/Likely benign 0.426 3350 chr11 10019879 10019879 G A rs16907355 SBF2 Synonymous SNV P303P 0.114 0.122 0.133 79 134 47 0.203 39 8 5 4 6 Benign 14.86 3351 chr1 91859795 91859795 T C rs282009 HFM1 Nonsynonymous SNV I117V 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 0.001 3352 chr11 1016984 1016984 G A rs78839362 MUC6 Synonymous SNV T1939T 0.328 0.341 0.214 122 385 131 0.313 63 0 0 0 0 1.303 3353 chr11 111916647 111916647 G A rs10891314 DLAT Nonsynonymous SNV D358N 0.307 0.359 0.306 146 360 138 0.374 90 57 25 13 29 Benign/Likely benign 34 3354 chr11 1016987 1016987 G A rs768554102 MUC6 Synonymous SNV I1938I 0.198 0.214 0 73 233 82 0.187 0 0 0 0 0 4.565 3355 chr1 91980447 91980447 A G rs483532 CDC7 Synonymous SNV T330T 0.783 0.773 0.799 309 919 297 0.792 235 357 114 94 122 2.654 3356 chr10 96798749 96798749 T C rs10509681 CYP2C8 Nonsynonymous SNV K297R 0.141 0.13 0.133 56 165 50 0.144 39 16 4 2 3 drug response 0.532 3357 chr11 1016991 1016991 T G rs74788171 MUC6 Nonsynonymous SNV N1937T 0.2 0.216 0.071 71 235 83 0.182 21 0 0 0 0 0.001 3358 chr11 112020916 112020916 T G rs549908 IL18 Synonymous SNV S31S 0.249 0.234 0.289 109 292 90 0.279 85 35 14 11 19 Benign 9.848 3359 chr1 92174260 92174260 A G rs284878 TGFBR3 Synonymous SNV T748T 0.951 0.958 0.959 364 1117 368 0.933 282 531 177 136 170 9.15 3360 chr11 10022500 10022500 A G rs776897720 SBF2 Synonymous SNV I274I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.928 3361 chr11 112065434 112065434 T C rs10891338 BCO2 Nonsynonymous SNV L126P 0.964 0.927 0.966 377 1132 356 0.967 284 545 165 137 182 10.24 3362 chr1 92177938 92177938 A G rs1805113 TGFBR3 Synonymous SNV F675F 0.392 0.385 0.418 167 460 148 0.428 123 94 27 28 38 2.336 3363 chr11 100665888 100665888 G A rs61999341 ARHGAP42 Synonymous SNV R101R 0.034 0.036 0.031 5 40 14 0.013 9 3 0 1 0 12.56 3364 chr10 96827030 96827030 C T rs11572080 CYP2C8 Nonsynonymous SNV R37K 0.138 0.128 0.133 51 162 49 0.131 39 16 4 2 3 no interpretation for the single variant 22.1 3365 chr1 92185657 92185657 C T rs1805112 TGFBR3 Synonymous SNV P401P 0.405 0.378 0.429 156 476 145 0.4 126 96 30 25 26 11.87 3366 chr11 112088499 112088499 A C rs2217401 BCO2 Nonsynonymous SNV I475L 0.997 1 0.997 389 1170 384 0.997 293 583 192 146 194 7.726 3367 chr11 101347093 101347093 A G rs12366144 TRPC6 Synonymous SNV N561N 0.237 0.253 0.19 90 278 97 0.231 56 26 14 7 17 Benign 5.705 3368 chr1 92262874 92262874 T C rs2810904 TGFBR3 Synonymous SNV A72A 0.66 0.693 0.687 259 775 266 0.664 202 247 87 72 86 0.114 3369 chr11 100998771 100998771 C G rs3740753 PGR Nonsynonymous SNV S344T 0.176 0.143 0.163 65 207 55 0.167 48 22 6 5 5 18.76 3370 chr11 112123095 112123095 A G rs2564872 PLET1 Nonsynonymous SNV S142P 0.744 0.755 0.724 280 873 290 0.718 213 325 108 76 103 22.7 3371 chr11 1017110 1017110 C T rs36130410 MUC6 Synonymous SNV P1897P 0.4 0.401 0.31 150 470 154 0.385 91 0 0 0 0 10.25 3372 chr1 92428495 92428495 C A rs10783071 BRDT Nonsynonymous SNV Q62K 0.911 0.87 0.864 353 1070 334 0.905 254 484 144 117 160 9.222 3373 chr11 1017112 1017112 G C rs77753732 MUC6 Nonsynonymous SNV P1897A 0.407 0.404 0.299 150 478 155 0.385 88 0 0 0 0 0.001 3374 chr11 112131274 112131274 C G rs146674321 PLET1 Synonymous SNV G13G 0.021 0.016 0.037 9 25 6 0.023 11 1 0 0 0 2.862 3375 chr1 92441876 92441876 G A rs112246679 BRDT Nonsynonymous SNV A121T 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 1.811 3376 chr11 112832340 112832340 C - rs11284059 NCAM1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3377 chr11 112832353 112832353 T C rs7105734 NCAM1 Nonsynonymous SNV F7L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.99 3378 chr11 112832358 112832358 T C rs6589347 NCAM1 Synonymous SNV I8I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.208 3379 chr1 92457843 92457843 C T rs10747493 BRDT Nonsynonymous SNV P650L 0.83 0.807 0.776 325 975 310 0.833 228 402 125 98 134 0.485 3380 chr11 11292700 11292700 G C rs10831567 GALNT18 Synonymous SNV L543L 0.463 0.44 0.435 159 544 169 0.408 128 120 36 29 36 2.096 3381 chr11 113103996 113103996 T G rs584427 NCAM1 Synonymous SNV V540V 0.463 0.477 0.5 178 544 183 0.456 147 135 48 37 41 11.51 3382 chr11 1017023 1017023 G A rs78989655 MUC6 Synonymous SNV H1926H 0.228 0.26 0.068 87 268 100 0.223 20 0 0 0 0 0.757 3383 chr11 113194168 113194168 A C rs723077 TTC12 Nonsynonymous SNV M48L 0.512 0.505 0.493 215 601 194 0.551 145 157 51 33 63 0.001 3384 chr1 92554283 92554283 G A rs34856868 BTBD8 Nonsynonymous SNV V60I 0.019 0.013 0.01 8 22 5 0.021 3 0 0 0 0 22.4 3385 chr1 85742012 85742012 G C rs11576939 BCL10 Synonymous SNV L8L 0.264 0.24 0.16 120 310 92 0.308 47 41 12 7 17 Benign 10.58 3386 chr11 113264272 113264272 T C rs17115439 ANKK1 Synonymous SNV S85S 0.681 0.685 0.653 266 800 263 0.682 192 274 93 61 87 0.041 3387 chr11 1017035 1017035 - AT rs754561621 MUC6 Frameshift insertion S1923Ffs*63 0.256 0.281 0.109 102 301 108 0.262 32 0 0 0 0 3388 chr1 92646021 92646021 G A rs1483022 KIAA1107 Synonymous SNV K414K 0.67 0.716 0.701 267 787 275 0.685 206 256 103 75 89 6.955 3389 chr11 113264470 113264470 A C rs4938013 ANKK1 Synonymous SNV I151I 0.688 0.69 0.68 269 808 265 0.69 200 277 95 68 89 0.004 3390 chr11 1017041 1017042 GT - rs752117134 MUC6 Y1920Sfs*9 0.259 0.284 0.146 104 304 109 0.267 43 0 0 0 0 3391 chr1 92647223 92647223 A G rs560389 KIAA1107 Nonsynonymous SNV N815S 0.713 0.755 0.738 282 837 290 0.723 217 296 113 83 101 0.03 3392 chr11 113268059 113268059 G A rs11604671 ANKK1 Nonsynonymous SNV G318R 0.566 0.555 0.507 222 665 213 0.569 149 193 64 37 62 1.388 3393 chr10 97709754 97709754 T C rs143275718 CC2D2B Synonymous SNV H301H 0.025 0.01 0 10 29 4 0.026 0 0 0 0 0 18.44 3394 chr11 1017045 1017045 G T rs77885750 MUC6 Nonsynonymous SNV P1919H 0.249 0.273 0.163 96 292 105 0.246 48 0 0 0 0 0.001 3395 chr11 1016714 1016714 G A rs373360588 MUC6 Synonymous SNV H2029H 0.114 0.117 0.126 44 134 45 0.113 37 0 0 0 0 0.159 3396 chr10 97752423 97752423 A G rs140354197 CC2D2B Nonsynonymous SNV N871D 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 14.77 3397 chr11 113270015 113270015 G C rs4938016 ANKK1 Nonsynonymous SNV G442R 0.707 0.669 0.639 274 830 257 0.703 188 296 90 63 97 0.021 3398 chr1 92647532 92647532 C A rs565156 KIAA1107 Nonsynonymous SNV T918N 0.968 0.99 0.98 387 1136 380 0.992 288 549 188 141 192 12.36 3399 chr1 86591141 86591141 A G rs17128866 COL24A1 Nonsynonymous SNV I293T 0.034 0.063 0.027 13 40 24 0.033 8 1 0 0 1 0.004 3400 chr10 99376092 99376092 T C rs3814555 MORN4 Synonymous SNV R123R 0.183 0.19 0.18 64 215 73 0.164 53 20 5 3 5 7.813 3401 chr11 113270042 113270042 G A rs34983219 ANKK1 Nonsynonymous SNV G451R 0.007 0.018 0.007 6 8 7 0.015 2 0 0 0 0 19.6 3402 chr1 92946479 92946479 G A rs11164605 GFI1 Synonymous SNV C155C 0.807 0.857 0.837 334 948 329 0.856 246 391 142 107 144 Benign 6.029 3403 chr10 99376152 99376152 A G rs3814556 MORN4 Synonymous SNV P103P 0.182 0.19 0.184 63 214 73 0.162 54 20 5 4 5 6.054 3404 chr1 92979354 92979354 A G rs6603979 EVI5 Synonymous SNV G764G 0.816 0.859 0.857 336 958 330 0.862 252 391 141 108 144 Benign 0.705 3405 chr11 113270160 113270160 A G rs2734849 ANKK1 Nonsynonymous SNV H490R 0.566 0.555 0.514 222 665 213 0.569 151 193 64 38 62 0.001 3406 chr11 1017186 1017186 A G rs74579726 MUC6 Nonsynonymous SNV M1872T 0.304 0.284 0.354 104 357 109 0.267 104 0 0 0 0 0.001 3407 chr1 93089823 93089823 T C rs7514716 EVI5 Synonymous SNV Q563Q 0.91 0.948 0.895 365 1068 364 0.936 263 485 172 122 170 Benign 1.651 3408 chr11 113270374 113270374 C T rs2734848 ANKK1 Synonymous SNV Y561Y 0.798 0.784 0.789 317 937 301 0.813 232 377 123 92 129 5.851 3409 chr1 93160902 93160902 T C rs2391199 EVI5 Nonsynonymous SNV I336V 0.907 0.948 0.929 365 1065 364 0.936 273 484 172 126 170 Benign 2.353 3410 chr10 96058365 96058365 G A rs376511806 PLCE1 Synonymous SNV P1491P 0.011 0.01 0 6 13 4 0.015 0 0 0 0 0 12.08 3411 chr11 113283459 113283459 G A rs6277 DRD2 Synonymous SNV P290P 0.599 0.57 0.558 230 703 219 0.59 164 210 67 45 67 Benign/Likely benign 8.629 3412 chr11 113283477 113283477 A G rs6275 DRD2 Synonymous SNV H284H 0.718 0.674 0.684 280 843 259 0.718 201 307 92 69 101 Benign 1.683 3413 chr1 93306317 93306317 G A rs10874744 SNORA66 0.603 0.656 0.629 266 708 252 0.682 185 224 86 58 96 Benign 15.1 3414 chr11 1016870 1016870 G A rs76307106 MUC6 Synonymous SNV P1977P 0.129 0.112 0.095 62 151 43 0.159 28 0 0 0 0 1.966 3415 chr11 11354346 11354346 T C rs901553 GALNT18 Synonymous SNV A375A 0.4 0.367 0.391 185 470 141 0.474 115 96 27 20 44 9.97 3416 chr1 86838158 86838158 C T rs421105 ODF2L Synonymous SNV V161V 0.158 0.156 0.639 83 186 60 0.213 188 87 28 73 37 14.14 3417 chr1 93580581 93580581 G C rs2815427 MTF2 Nonsynonymous SNV C38S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.88 3418 chr11 113561054 113561054 A G rs7110736 TMPRSS5 Nonsynonymous SNV F256L 0.692 0.677 0.701 253 812 260 0.649 206 294 86 78 77 Benign 12.82 3419 chr1 86852621 86852621 A G rs2390096 ODF2L Synonymous SNV C30C 0.364 0.391 0.371 126 427 150 0.323 109 76 28 14 20 2.75 3420 chr1 93620393 93620393 G A rs1060622 TMED5 Nonsynonymous SNV T175I 0.628 0.648 0.605 257 737 249 0.659 178 229 82 51 87 23.6 3421 chr1 86913265 86913265 C T rs2275001 CLCA2 Synonymous SNV R596R 0.303 0.32 0.306 108 356 123 0.277 90 56 20 9 16 15.16 3422 chr11 113561057 113561057 A G rs7110738 TMPRSS5 Synonymous SNV L255L 0.692 0.677 0.701 253 812 260 0.649 206 294 86 78 77 Benign 0.564 3423 chr10 96162708 96162708 C G TBC1D12 Nonsynonymous SNV S113W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.3 3424 chr11 113570405 113570405 T C rs4936280 TMPRSS5 Synonymous SNV A30A 0.692 0.68 0.701 252 812 261 0.646 206 294 87 78 76 Benign 0.014 3425 chr1 86920904 86920904 A G rs2390057 CLCA2 Synonymous SNV Q842Q 0.385 0.411 0.395 147 452 158 0.377 116 89 30 20 26 0.006 3426 chr1 93672723 93672723 A C rs2815413 CCDC18 Nonsynonymous SNV N326T 0.816 0.841 0.803 321 958 323 0.823 236 394 136 93 131 22.4 3427 chr10 98924600 98924600 G A rs41307074 SLIT1 Nonsynonymous SNV A82V 0.061 0.094 0.071 26 72 36 0.067 21 5 2 3 0 21.1 3428 chr11 113670052 113670052 T A rs2459971 USP28 Synonymous SNV T715T 0.999 1 0.997 388 1173 384 0.995 293 586 192 146 193 14.68 3429 chr11 1016918 1016918 C T rs34375705 MUC6 Synonymous SNV R1961R 0.225 0.221 0.425 84 264 85 0.215 125 0 0 0 0 9.107 3430 chr11 113679119 113679119 C T rs2465647 USP28 Synonymous SNV S402S 0.794 0.779 0.813 312 932 299 0.8 239 377 115 95 121 20.3 3431 chr1 94341267 94341267 A G rs2273165 DNTTIP2 Synonymous SNV F580F 0.457 0.443 0.466 168 536 170 0.431 137 123 41 37 38 8.367 3432 chr10 99016088 99016088 T C rs17112598 ARHGAP19 Nonsynonymous SNV Q296R 0.017 0.021 0 3 20 8 0.008 0 0 0 0 0 24.5 3433 chr1 86947975 86947975 A T rs1321694 CLCA1 Synonymous SNV V215V 0.408 0.43 0.466 147 479 165 0.377 137 90 35 31 27 0.236 3434 chr11 11373508 11373508 T C rs7948121 CSNK2A3 Nonsynonymous SNV T387A 0.997 1 0.993 388 1171 384 0.995 292 584 192 145 193 0.002 3435 chr1 94343233 94343233 T C rs3789457 DNTTIP2 Synonymous SNV E86E 0.705 0.674 0.653 277 828 259 0.71 192 289 86 63 99 0.003 3436 chr11 11373587 11373587 A G rs7945066 CSNK2A3 Synonymous SNV T360T 0.997 1 0.993 388 1171 384 0.995 292 584 192 145 193 0.592 3437 chr1 94471075 94471075 A G rs1762114 ABCA4 Synonymous SNV I2023I 0.913 0.909 0.915 356 1072 349 0.913 269 488 159 124 163 Benign 4.351 3438 chr11 11373635 11373635 C T rs1056963 CSNK2A3 Synonymous SNV T344T 0.997 1 0.997 388 1171 384 0.995 293 584 192 146 193 13.65 3439 chr11 11373808 11373808 T G rs1056951 CSNK2A3 Nonsynonymous SNV S287R 0.998 1 0.993 388 1172 384 0.995 292 585 192 145 193 19.17 3440 chr1 94578548 94578548 T C rs4847281 ABCA4 Synonymous SNV P47P 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 Benign 0.035 3441 chr11 11373925 11373925 A C rs4243927 CSNK2A3 Nonsynonymous SNV F248V 0.997 1 0.993 388 1171 384 0.995 292 584 192 145 193 0.123 3442 chr1 94639447 94639447 C T rs1999272 ARHGAP29 Nonsynonymous SNV G1191D 0.996 1 0.997 389 1169 384 0.997 293 582 192 146 194 13.6 3443 chr11 11373960 11373960 C T rs2071461 CSNK2A3 Nonsynonymous SNV R236H 0.736 0.716 0.745 270 864 275 0.692 219 316 102 80 94 3.781 3444 chr11 11374016 11374016 T A rs2896586 CSNK2A3 Nonsynonymous SNV R217S 0.997 1 0.993 388 1171 384 0.995 292 584 192 145 193 7.543 3445 chr11 100820663 100820663 G A rs17647207 ARHGAP42 Nonsynonymous SNV A380T 0.114 0.073 0.109 36 134 28 0.092 32 12 0 3 1 22.9 3446 chr1 94643531 94643531 T C rs1048854 ARHGAP29 Synonymous SNV Q827Q 0.307 0.294 0.235 99 360 113 0.254 69 51 21 9 10 0.007 3447 chr11 11374269 11374269 A G rs2071460 CSNK2A3 Nonsynonymous SNV I133T 0.402 0.427 0.442 143 472 164 0.367 130 91 30 29 30 19.96 3448 chr1 95001600 95001600 A C rs698946 F3 Synonymous SNV P111P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.006 3449 chr1 87716433 87716433 C T rs72725847 LINC02801 Synonymous SNV F91F 0.28 0.255 0.218 111 329 98 0.285 64 44 11 7 12 3.044 3450 chr11 11374283 11374283 T G rs2896585 CSNK2A3 Nonsynonymous SNV L128F 0.997 1 0.993 388 1171 384 0.995 292 584 192 145 193 5.743 3451 chr1 95330372 95330372 G A rs859098 SLC44A3 Nonsynonymous SNV V402I 0.758 0.766 0.776 299 890 294 0.767 228 345 111 88 116 15.55 3452 chr11 113803028 113803028 A C rs1176744 HTR3B Nonsynonymous SNV Y118S 0.348 0.362 0.357 127 409 139 0.326 105 82 23 18 16 0.604 3453 chr1 89430610 89430610 G C rs770899160 KYAT3 Nonsynonymous SNV Q85E 0.004 0 0 4 5 0 0.01 0 0 0 0 0 14.44 3454 chr11 114421857 114421857 T C rs78453693 NXPE1 Nonsynonymous SNV M23V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 2.572 3455 chr1 95709821 95709821 T C rs259358 RWDD3 Nonsynonymous SNV V47A 0.997 0.997 0.99 388 1170 383 0.995 291 583 191 144 193 0.001 3456 chr11 1016968 1016968 T C rs34243203 MUC6 Nonsynonymous SNV T1945A 0.254 0.263 0.003 91 298 101 0.233 1 0 0 0 0 0.173 3457 chr11 114421861 114421861 G A rs76118887 NXPE1 Synonymous SNV T21T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.849 3458 chr1 95709939 95709939 T G rs2296308 RWDD3 Nonsynonymous SNV N86K 0.848 0.891 0.827 341 995 342 0.874 243 422 152 101 146 0.001 3459 chr11 1017464 1017464 T C rs112874139 MUC6 Synonymous SNV R1779R 0.395 0.432 0.388 147 464 166 0.377 114 0 0 0 0 0.013 3460 chr11 100909991 100909991 T C rs500760 PGR Synonymous SNV Q620Q 0.285 0.258 0.262 94 335 99 0.241 77 50 21 12 13 0.492 3461 chr11 114421895 114421895 G A rs78257939 NXPE1 Nonsynonymous SNV T10M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1.611 3462 chr11 1017466 1017466 T A rs201054567 MUC6 Stop gain R1779X 0.067 0.044 0.126 16 79 17 0.041 37 0 0 0 0 35 3463 chr11 100922202 100922202 G A rs1042839 PGR Synonymous SNV H504H 0.178 0.143 0.163 64 209 55 0.164 48 22 6 5 5 8.894 3464 chr1 97272456 97272456 A G rs6699932 PTBP2 Synonymous SNV L319L 0.216 0.232 0.235 83 253 89 0.213 69 18 8 6 8 0.644 3465 chr11 114421909 114421909 T C rs79082937 NXPE1 Synonymous SNV T5T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 2.152 3466 chr11 100933412 100933412 C A rs1042838 PGR Nonsynonymous SNV V660L 0.178 0.143 0.167 65 209 55 0.167 49 22 6 5 5 19.5 3467 chr11 114421912 114421912 A G rs78658939 NXPE1 Synonymous SNV N4N 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1 3468 chr1 97981395 97981395 T C rs1801159 DPYD Nonsynonymous SNV I543V 0.192 0.201 0.187 58 225 77 0.149 55 20 3 5 3 Benign 9.639 3469 chr11 114569054 114569054 A G rs1712838 NXPE2 Synonymous SNV G140G 0.744 0.716 0.738 290 873 275 0.744 217 329 98 81 105 1.153 3470 chr11 116633825 116633825 C T rs918144 BUD13 Synonymous SNV P160P 0.515 0.531 0.52 197 605 204 0.505 153 158 47 34 48 12.01 3471 chr1 98165091 98165091 T C rs2297595 DPYD Nonsynonymous SNV M166V 0.101 0.135 0.146 60 119 52 0.154 43 8 5 4 9 Benign/Likely benign 24.5 3472 chr11 116692334 116692334 C T rs5104 APOA4 Nonsynonymous SNV S147N 0.851 0.867 0.861 337 999 333 0.864 253 423 143 109 148 0.001 3473 chr11 1017489 1017489 G A rs775515818 MUC6 Nonsynonymous SNV P1771L 0.093 0.065 0.228 25 109 25 0.064 67 0 0 0 0 13.46 3474 chr11 116693464 116693464 C T rs5092 APOA4 Synonymous SNV T29T 0.83 0.839 0.85 332 974 322 0.851 250 399 134 106 144 11.62 3475 chr11 1016989 1016991 TGT - rs72311383 MUC6 N1937del 0.147 0.135 0.085 49 172 52 0.126 25 0 0 0 0 3476 chr1 98348885 98348885 G A rs1801265 DPYD Nonsynonymous SNV R29C 0.8 0.792 0.752 294 939 304 0.754 221 376 119 83 112 Benign 23.7 3477 chr11 116701535 116701535 T C rs4520 APOC3 Synonymous SNV G34G 0.708 0.711 0.724 277 831 273 0.71 213 296 92 80 98 Benign 0.008 3478 chr11 1017498 1017498 C T rs76707565 MUC6 Nonsynonymous SNV S1768N 0.15 0.141 0.238 70 176 54 0.179 70 0 0 0 0 4.387 3479 chr11 1017008 1017008 G T rs764574876 MUC6 Synonymous SNV T1931T 0.043 0.042 0 18 51 16 0.046 0 0 0 0 0 2.31 3480 chr11 101325788 101325788 G A rs72984209 TRPC6 Synonymous SNV F843F 0.101 0.104 0.071 41 119 40 0.105 21 1 3 0 4 Benign 3.521 3481 chr11 117042377 117042377 G A rs4936367 PAFAH1B2 Nonsynonymous SNV V151M 0.841 0.865 0.871 326 987 332 0.836 256 417 142 112 135 0.45 3482 chr1 99127392 99127392 T C rs9728148 SNX7 Synonymous SNV S35S 0.777 0.807 0.782 343 912 310 0.879 230 456 155 114 171 4.773 3483 chr11 1017012 1017012 A G rs752053456 MUC6 Nonsynonymous SNV V1930A 0.026 0.026 0 13 31 10 0.033 0 0 0 0 0 10.57 3484 chr11 1017504 1017504 G A rs201997835 MUC6 Nonsynonymous SNV T1766I 0.031 0.021 0.139 9 36 8 0.023 41 0 0 0 0 0.317 3485 chr11 117052532 117052532 C A rs61729990 SIDT2 Synonymous SNV R105R 0.008 0.013 0.024 7 9 5 0.018 7 0 1 0 0 17.44 3486 chr1 99225627 99225627 G A rs2019213 SNX7 Synonymous SNV E377E 0.993 0.992 0.973 387 1166 381 0.992 286 579 189 140 192 9.946 3487 chr11 117074109 117074109 G A rs12970 TAGLN Synonymous SNV K89K 0.051 0.078 0.078 28 60 30 0.072 23 4 4 0 0 13.89 3488 chr11 1017013 1017013 C T rs559568494 MUC6 Nonsynonymous SNV V1930I 0.025 0.016 0 11 29 6 0.028 0 0 0 0 0 0.001 3489 chr11 101765654 101765654 G A rs77315074 ANGPTL5 Nonsynonymous SNV T268M 0.038 0.039 0.044 17 45 15 0.044 13 1 0 0 1 23.2 3490 chr1 100203648 100203648 C T rs7537296 FRRS1 Synonymous SNV Q251Q 0.393 0.424 0.384 169 461 163 0.433 113 83 39 21 37 3.72 3491 chr11 117096652 117096652 G A rs2277287 PCSK7 Synonymous SNV S285S 0.184 0.227 0.177 89 216 87 0.228 52 20 6 2 12 12.34 3492 chr1 100203693 100203693 G A rs7514021 FRRS1 Synonymous SNV S236S 0.395 0.424 0.384 169 464 163 0.433 113 83 39 21 37 13.99 3493 chr11 117160347 117160347 A G rs539765 BACE1 Nonsynonymous SNV C381R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 18.96 3494 chr1 100336361 100336361 C T rs2230306 AGL Synonymous SNV L298L 0.657 0.628 0.697 234 771 241 0.6 205 300 93 76 94 Benign 14.97 3495 chr11 1017036 1017036 - CA MUC6 Frameshift insertion T1922Mfs*64 0.016 0.01 0.014 12 19 4 0.031 4 0 0 0 0 3496 chr1 90179532 90179532 A G rs12032393 LRRC8C Nonsynonymous SNV N468S 0.138 0.13 0.129 55 162 50 0.141 38 14 3 2 4 6.153 3497 chr1 100358103 100358103 C T rs3753494 AGL Nonsynonymous SNV P1067S 0.181 0.193 0.224 65 213 74 0.167 66 15 7 5 4 Benign 18.13 3498 chr11 117252489 117252489 T C rs897836 CEP164 Synonymous SNV P497P 0.885 0.88 0.891 331 1039 338 0.849 262 482 159 120 147 Benign 0.011 3499 chr11 117266312 117266312 C G rs2305830 CEP164 Nonsynonymous SNV T991S 0.313 0.406 0.265 117 368 156 0.3 78 63 29 14 17 Benign 10.82 3500 chr1 100598866 100598866 G A rs472498 TRMT13 Nonsynonymous SNV A48T 0.811 0.823 0.847 310 952 316 0.795 249 386 131 106 121 22.9 3501 chr11 117267884 117267884 A G rs573455 CEP164 Nonsynonymous SNV Q1122R 0.517 0.57 0.5 191 607 219 0.49 147 156 58 37 45 Benign 0.001 3502 chr1 100598867 100598867 C T rs687513 TRMT13 Nonsynonymous SNV A48V 0.811 0.823 0.847 310 952 316 0.795 249 386 131 106 121 23.7 3503 chr10 99003811 99003811 G A rs34038589 ARHGAP19 Nonsynonymous SNV H338Y 0.027 0.029 0.037 8 32 11 0.021 11 2 0 1 0 23.8 3504 chr11 117282800 117282800 G T rs522885 CEP164 Synonymous SNV S1428S 0.939 0.943 0.949 354 1102 362 0.908 279 517 171 133 161 Benign 7.617 3505 chr11 117308795 117308795 G A rs2253440 DSCAML1 Synonymous SNV F1416F 0.244 0.25 0.184 82 287 96 0.21 54 32 12 5 11 12.33 3506 chr10 99968743 99968743 G T rs147674187 R3HCC1L Nonsynonymous SNV G291V 0.007 0.003 0 0 8 1 0 0 0 0 0 0 12.14 3507 chr1 100624947 100624947 G A rs80221535 LRRC39 Synonymous SNV L82L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 8.515 3508 chr11 117693413 117693413 G A rs35705701 FXYD2, FXYD6-FXYD2 Nonsynonymous SNV R98C 0.022 0.031 0.034 21 26 12 0.054 10 0 0 0 0 Likely benign 12.59 3509 chr11 117772955 117772955 T C rs73020481 TMPRSS13 Synonymous SNV X533X 0.082 0.091 0.112 31 96 35 0.079 33 2 2 3 2 7.405 3510 chr1 100661842 100661842 T C rs75525811 DBT Nonsynonymous SNV N473S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.75 3511 chr11 117774394 117774394 A G rs59590191 TMPRSS13 Synonymous SNV L516L 0.136 0.13 0.177 41 160 50 0.105 52 8 2 7 2 4.801 3512 chr11 117781435 117781435 A G rs2155194 TMPRSS13 Synonymous SNV S276S 0.964 0.977 0.959 381 1132 375 0.977 282 545 183 136 186 7.639 3513 chr1 100672060 100672060 T C rs12021720 DBT Nonsynonymous SNV S384G 0.867 0.867 0.898 344 1018 333 0.882 264 443 145 117 152 Benign 1.112 3514 chr11 117789313 117789327 GGGCTGGAGATGCCT - rs201746372 TMPRSS13 Q83_A87del 0.758 0.732 0.701 289 890 281 0.741 206 340 103 73 110 3515 chr1 101005090 101005090 G A rs2809819 GPR88 Nonsynonymous SNV V190I 0.547 0.591 0.527 221 642 227 0.567 155 173 62 42 59 0.105 3516 chr1 92185522 92185522 G A rs2229500 TGFBR3 Synonymous SNV S446S 0.026 0.039 0.024 17 30 15 0.044 7 0 0 1 2 11.63 3517 chr11 117864047 117864047 A G rs2256111 IL10RA Synonymous SNV A153A 0.602 0.581 0.524 249 707 223 0.638 154 211 71 45 81 Benign 1.015 3518 chr11 117869670 117869670 A G rs2229113 IL10RA Nonsynonymous SNV R351G 0.761 0.758 0.673 312 894 291 0.8 198 340 113 69 124 Benign 0.945 3519 chr1 101203827 101203827 G A rs3176879 VCAM1 Synonymous SNV K644K 0.984 0.982 0.966 385 1155 377 0.987 284 568 186 137 190 8.74 3520 chr11 1017384 1017384 G C rs34095361 MUC6 Nonsynonymous SNV T1806S 0.251 0.258 0.378 101 295 99 0.259 111 0 0 0 0 0.002 3521 chr11 117965530 117965530 A G rs2276122 TMPRSS4 0.319 0.305 0.33 109 374 117 0.279 97 58 16 14 17 10.38 3522 chr1 102296279 102296279 T C rs10493973 OLFM3 Synonymous SNV K127K 0.198 0.161 0.204 76 233 62 0.195 60 17 3 4 4 10.37 3523 chr11 1018012 1018012 T G rs10751676 MUC6 Nonsynonymous SNV K1597Q 0.426 0.432 0.259 155 500 166 0.397 76 0 0 0 0 0.002 3524 chr11 117982495 117982495 T G rs1941635 TMPRSS4 Nonsynonymous SNV V168G 0.938 0.951 0.956 369 1101 365 0.946 281 516 173 134 176 0.038 3525 chr1 103354138 103354138 A G rs1676486 COL11A1 Nonsynonymous SNV S1419P 0.853 0.831 0.82 339 1001 319 0.869 241 427 135 100 147 Benign 22 3526 chr11 117988082 117988082 T C rs642215 TMPRSS4 Synonymous SNV S365S 0.892 0.891 0.867 358 1047 342 0.918 255 467 150 111 167 0.458 3527 chr11 1018024 1018024 C G rs766179928 MUC6 Nonsynonymous SNV A1593P 0.496 0.497 0.333 194 582 191 0.497 98 0 0 0 0 10.61 3528 chr11 118007790 118007790 G A rs72544155 SCN4B Synonymous SNV N79N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.46 3529 chr1 103354428 103354428 A G rs1763347 COL11A1 Synonymous SNV G1388G 0.832 0.807 0.803 333 977 310 0.854 236 406 127 97 143 Benign 7.854 3530 chr11 11804698 11804698 G A rs112932356 MIR8070 0 0 0.221 0 0 0 0 65 0 0 8 0 0.559 3531 chr1 103405892 103405892 G A rs17127270 COL11A1 Synonymous SNV D1009D 0.119 0.141 0.146 39 140 54 0.1 43 6 5 4 2 Benign 5.167 3532 chr11 118074337 118074337 A G rs1793174 JAML Nonsynonymous SNV V154A 0.727 0.682 0.704 278 854 262 0.713 207 318 89 72 99 0.001 3533 chr1 103548497 103548497 A C rs11164663 COL11A1 Nonsynonymous SNV D46E 0.049 0.055 0.075 10 58 21 0.026 22 2 0 0 0 Benign 18.41 3534 chr11 118081345 118081345 A T rs17121881 JAML Nonsynonymous SNV I55N 0.555 0.471 0.476 202 651 181 0.518 140 196 38 32 52 23.5 3535 chr11 1018042 1018042 A G rs200364398 MUC6 Nonsynonymous SNV S1587P 0.499 0.5 0.371 195 586 192 0.5 109 0 0 0 0 0.29 3536 chr1 104076462 104076462 C T rs6697444 RNPC3 Synonymous SNV G114G 0.717 0.711 0.031 278 842 273 0.713 9 301 94 4 97 14.01 3537 chr11 118107805 118107805 A G rs1793140 MPZL3 Synonymous SNV H125H 0.73 0.69 0.701 282 857 265 0.723 206 322 91 71 102 3.744 3538 chr11 1018048 1018048 A G rs12787400 MUC6 Nonsynonymous SNV F1585L 0.5 0.5 0.378 195 587 192 0.5 111 0 0 0 0 0.003 3539 chr1 104616041 104616041 C T rs72685703 LOC100129138 0.018 0.016 0.01 5 21 6 0.013 3 0 0 0 0 5.675 3540 chr11 1017932 1017932 C T rs758611060 MUC6 Synonymous SNV L1623L 0.044 0.065 0.017 23 52 25 0.059 5 0 0 0 0 4.643 3541 chr11 118110977 118110977 T C rs2853006 MPZL3 Synonymous SNV K51K 0.725 0.682 0.701 279 851 262 0.715 206 318 89 71 100 1.037 3542 chr1 104616337 104616337 A G rs6664203 LOC100129138 0.088 0.13 0 48 103 50 0.123 0 43 23 0 21 2.984 3543 chr11 1017933 1017933 A G rs79728621 MUC6 Nonsynonymous SNV L1623S 0.047 0.068 0.024 24 55 26 0.062 7 0 0 0 0 0.103 3544 chr1 107979396 107979396 A C rs480392 NTNG1 Synonymous SNV G399G 0.998 1 0.99 389 1172 384 0.997 291 585 192 144 194 0.095 3545 chr11 118221349 118221349 T C rs3753059 CD3G Synonymous SNV A130A 0.191 0.221 0.252 62 224 85 0.159 74 30 13 7 6 Benign 7.352 3546 chr11 1018059 1018059 C T rs78336072 MUC6 Nonsynonymous SNV G1581E 0.5 0.5 0.367 195 587 192 0.5 108 0 0 0 0 0.026 3547 chr1 92946625 92946625 G C rs149914857 GFI1 Nonsynonymous SNV P107A 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 Likely benign 24.1 3548 chr11 118221350 118221350 G T rs3753058 CD3G Nonsynonymous SNV V131F 0.191 0.221 0.252 62 224 85 0.159 74 30 13 7 6 Benign 25.9 3549 chr1 108307727 108307727 T A rs7528153 VAV3 Nonsynonymous SNV T298S 0.619 0.654 0.629 221 727 251 0.567 185 238 79 58 63 11.63 3550 chr11 1017935 1017935 A G rs138784536 MUC6 Synonymous SNV S1622S 0.215 0.232 0.15 82 252 89 0.21 44 0 0 0 0 0.01 3551 chr11 118367049 118367049 G A rs147764171 KMT2A Synonymous SNV A1877A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.15 3552 chr1 108313258 108313258 C T rs6583048 VAV3 Synonymous SNV K216K 0.69 0.721 0.605 244 810 277 0.626 178 277 97 69 74 14.08 3553 chr11 1017939 1017939 G C rs745806116 MUC6 Nonsynonymous SNV T1621S 0.069 0.076 0.027 27 81 29 0.069 8 0 0 0 0 8.86 3554 chr11 1017451 1017451 G C rs758323643 MUC6 Nonsynonymous SNV H1784D 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 0.075 3555 chr10 99473729 99473729 C G rs71486131 MARVELD1 Synonymous SNV G32G 0.056 0.057 0.037 36 66 22 0.092 11 0 0 0 3 14.05 3556 chr11 118405068 118405068 A G rs12289253 TMEM25 Nonsynonymous SNV Q194R 0.122 0.151 0.197 43 143 58 0.11 58 9 5 5 1 7.248 3557 chr1 109200108 109200108 C T rs36100901 HENMT1 Nonsynonymous SNV V39I 0.035 0.044 0.01 12 41 17 0.031 3 2 1 0 0 25 3558 chr11 118406329 118406336 AGTGTGGA - rs141837942 TMEM25 V378Afs*16 0.112 0.146 0.187 42 131 56 0.108 55 7 5 4 1 3559 chr11 118430519 118430519 C T rs11552421 IFT46 Nonsynonymous SNV C9Y 0.117 0.159 0.19 43 137 61 0.11 56 7 6 3 1 10.9 3560 chr1 109265029 109265029 G T rs4423040 FNDC7 Nonsynonymous SNV R224L 0.612 0.638 0.551 236 718 245 0.605 162 223 77 44 72 1.492 3561 chr11 1017498 1017498 C G rs76707565 MUC6 Nonsynonymous SNV S1768T 0.24 0.286 0.17 91 282 110 0.233 50 0 0 0 0 0.003 3562 chr11 118471423 118471423 T C rs11216925 ARCN1 Synonymous SNV I422I 0.117 0.151 0.177 38 137 58 0.097 52 5 7 4 1 4.261 3563 chr1 109268573 109268573 T C rs4494160 FNDC7 Nonsynonymous SNV V353A 0.66 0.638 0.667 253 775 245 0.649 196 253 81 67 82 13.46 3564 chr11 1018175 1018175 A G rs12418172 MUC6 Synonymous SNV T1542T 0.49 0.49 0.048 190 575 188 0.487 14 0 0 0 0 0.156 3565 chr11 118509668 118509668 A G rs483598 PHLDB1 Synonymous SNV E865E 0.612 0.565 0.565 229 719 217 0.587 166 227 65 45 61 5.975 3566 chr11 1017467 1017467 G A rs759742128 MUC6 Synonymous SNV T1778T 0.026 0.031 0.01 20 31 12 0.051 3 0 0 0 0 0.412 3567 chr11 1017988 1017988 G T rs112579249 MUC6 Nonsynonymous SNV P1605T 0.374 0.378 0.167 145 439 145 0.372 49 0 0 0 0 0.105 3568 chr11 1018182 1018182 G T rs778843534 MUC6 Nonsynonymous SNV T1540N 0.489 0.49 0.02 190 574 188 0.487 6 0 0 0 0 0.003 3569 chr11 118514625 118514625 C T rs11216938 PHLDB1 Synonymous SNV S948S 0.261 0.266 0.197 94 307 102 0.241 58 42 15 10 8 18.38 3570 chr1 109273456 109273456 A G rs4970809 FNDC7 Synonymous SNV G595G 0.493 0.482 0.429 198 579 185 0.508 126 137 39 29 48 11.13 3571 chr11 118765267 118765267 G C rs598207 CXCR5 Synonymous SNV T293T 0.258 0.279 0.265 105 303 107 0.269 78 44 17 9 12 7.562 3572 chr11 1017529 1017529 G A rs200644196 MUC6 Nonsynonymous SNV H1758Y 0.141 0.154 0.139 54 165 59 0.138 41 0 0 0 0 0.046 3573 chr11 1018186 1018186 G T rs758021128 MUC6 Nonsynonymous SNV P1539T 0.49 0.49 0.017 189 575 188 0.485 5 0 0 0 0 0.003 3574 chr11 118769442 118769442 A G rs7104819 BCL9L Synonymous SNV P1394P 0.424 0.477 0.442 182 498 183 0.467 130 105 40 27 35 Benign 0.059 3575 chr1 109363232 109363232 T C rs1333130 AKNAD1 Synonymous SNV K728K 0.306 0.32 0.34 100 359 123 0.256 100 58 21 22 18 0.01 3576 chr11 1017381 1017381 G C rs34912894 MUC6 Nonsynonymous SNV T1807S 0.073 0.057 0.126 17 86 22 0.044 37 0 0 0 0 0.002 3577 chr11 118873848 118873848 - T rs58593950 RPL23AP64 0 0 0.895 0 0 0 0 263 0 0 131 0 3578 chr1 109369915 109369915 G T rs7551421 AKNAD1 Nonsynonymous SNV N616K 0.533 0.565 0.568 223 626 217 0.572 167 173 66 54 70 0.002 3579 chr11 118873856 118873856 - T rs374078036 RPL23AP64 0 0 0.915 0 0 0 0 269 0 0 134 0 3580 chr11 1018192 1018192 C T rs770600141 MUC6 Nonsynonymous SNV V1537I 0.489 0.487 0.02 189 574 187 0.485 6 0 0 0 0 0.002 3581 chr11 118873858 118873858 - T rs59037937 RPL23AP64 0 0 0.915 0 0 0 0 269 0 0 134 0 3582 chr11 118873862 118873862 - T rs57377274 RPL23AP64 0 0 0.915 0 0 0 0 269 0 0 134 0 3583 chr1 94048485 94048485 C G rs12760294 BCAR3 Synonymous SNV S29S 0.032 0.026 0.024 15 38 10 0.038 7 1 1 0 0 8.165 3584 chr11 118873889 118873889 - T rs151338562 RPL23AP64 0 0 0.922 0 0 0 0 271 0 0 135 0 3585 chr1 109395105 109395105 C T rs1277207 AKNAD1 Nonsynonymous SNV S61N 0.802 0.797 0.816 314 942 306 0.805 240 381 118 99 128 0.005 3586 chr11 1018196 1018196 A T rs746456813 MUC6 Synonymous SNV P1535P 0.484 0.477 0.014 188 568 183 0.482 4 0 0 0 0 0.002 3587 chr11 100812546 100812546 T C rs201524267 ARHGAP42 Synonymous SNV Y288Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.559 3588 chr11 118873891 118873891 - T rs369082165 RPL23AP64 0 0 0.929 0 0 0 0 273 0 0 136 0 3589 chr11 118898436 118898436 C - rs547203028 SLC37A4 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3590 chr11 1018215 1018215 - CA rs769713098 MUC6 Frameshift insertion T1529Mfs*64 0.459 0.43 0.007 174 539 165 0.446 2 0 0 0 0 3591 chr11 1018218 1018218 T G rs754116088 MUC6 Nonsynonymous SNV H1528P 0.399 0.401 0.003 148 469 154 0.379 1 0 0 0 0 1.483 3592 chr11 118919206 118919206 T C rs568922 HYOU1 Synonymous SNV A745A 0.815 0.836 0.83 330 957 321 0.846 244 396 132 101 138 10.03 3593 chr1 109440215 109440215 G A rs41279678 GPSM2 Nonsynonymous SNV R127Q 0.107 0.099 0.119 50 126 38 0.128 35 5 2 0 6 Benign/Likely benign 25.9 3594 chr1 94461717 94461717 C A rs6666652 ABCA4 Nonsynonymous SNV S2255I 0.081 0.107 0.068 33 95 41 0.085 20 4 3 3 2 Benign 12.71 3595 chr11 1017485 1017485 G T rs112510411 MUC6 Nonsynonymous SNV N1772K 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.001 3596 chr11 118925341 118925341 G A rs538478 HYOU1 Synonymous SNV N181N 0.412 0.427 0.473 167 484 164 0.428 139 104 36 33 34 10.55 3597 chr11 1018220 1018220 T A rs754797237 MUC6 Synonymous SNV S1527S 0.419 0.409 0.003 155 492 157 0.397 1 0 0 0 0 0.945 3598 chr11 1017459 1017460 GG - rs774477802 MUC6 P1781Cfs*129 0.037 0.021 0.041 7 43 8 0.018 12 0 0 0 0 3599 chr11 118962230 118962230 G T rs1131488 HMBS Synonymous SNV V202V 0.286 0.305 0.313 113 336 117 0.29 92 50 21 14 13 Benign/Likely benign 10.17 3600 chr11 1018223 1018224 AT - rs780061827 MUC6 H1526Lfs*10 0.371 0.383 0 138 435 147 0.354 0 0 0 0 0 3601 chr1 109465166 109465168 CTT - rs35029887 GPSM2 S525del 0.302 0.31 0.279 119 355 119 0.305 82 55 12 11 18 3602 chr1 94466659 94466659 A G rs1801555 ABCA4 Synonymous SNV D2095D 0.173 0.188 0.16 68 203 72 0.174 47 19 8 4 6 Benign 5.901 3603 chr11 1017609 1017632 CTGGTGGTCACTGTCATTGGTGGG - rs755248382 MUC6 P1724_S1731del 0.035 0.018 0.037 7 41 7 0.018 11 0 0 0 0 3604 chr11 118967758 118967758 T C rs643788 DPAGT1 Nonsynonymous SNV I393V 0.461 0.461 0.524 184 541 177 0.472 154 115 41 40 36 Benign 0.001 3605 chr11 1018226 1018226 T G rs748096059 MUC6 Synonymous SNV L1525L 0.4 0.38 0.003 149 470 146 0.382 1 0 0 0 0 0.04 3606 chr11 1017691 1017691 C G rs77359624 MUC6 Nonsynonymous SNV A1704P 0.049 0.039 0.058 9 58 15 0.023 17 0 0 0 0 0.168 3607 chr1 109479978 109479978 G T rs168107 CLCC1 Nonsynonymous SNV S183R 0.307 0.31 0.272 123 361 119 0.315 80 56 15 11 17 0.598 3608 chr11 1018229 1018229 C G rs77630889 MUC6 Synonymous SNV S1524S 0.445 0.443 0.007 164 523 170 0.421 2 0 0 0 0 9.843 3609 chr1 94467447 94467447 G A rs1801359 ABCA4 Synonymous SNV I2083I 0.095 0.12 0.068 40 111 46 0.103 20 4 5 1 3 Benign/Likely benign 16.21 3610 chr11 1018232 1018232 G T rs113063572 MUC6 Synonymous SNV T1523T 0.447 0.445 0.02 168 525 171 0.431 6 0 0 0 0 0.645 3611 chr11 119004686 119004686 T A rs658922 HINFP Nonsynonymous SNV I391N 0.537 0.544 0.605 210 630 209 0.538 178 170 59 55 46 6.169 3612 chr1 109486196 109486196 A G rs338466 CLCC1 Synonymous SNV T201T 0.534 0.596 0.493 215 627 229 0.551 145 167 66 36 55 2.267 3613 chr11 119005088 119005088 C T rs512703 HINFP Synonymous SNV I272I 0.979 0.984 0.983 379 1149 378 0.972 289 562 186 142 184 18.37 3614 chr11 1018237 1018237 G A rs79892432 MUC6 Nonsynonymous SNV P1522S 0.444 0.44 0.024 165 521 169 0.423 7 0 0 0 0 0.001 3615 chr1 94544234 94544234 T C rs3112831 ABCA4 Nonsynonymous SNV H423R 0.263 0.234 0.214 104 309 90 0.267 63 39 9 5 11 Benign/Likely benign 1.131 3616 chr1 109656946 109656946 T C rs667524 KIAA1324 Synonymous SNV H47H 0.396 0.344 0.391 180 465 132 0.462 115 91 22 25 41 5.256 3617 chr11 119005132 119005132 C T rs100803 HINFP Nonsynonymous SNV A287V 0.467 0.469 0.537 172 548 180 0.441 158 125 42 42 31 7.899 3618 chr1 109704618 109704618 A G rs678238 KIAA1324 Nonsynonymous SNV I86V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.2 3619 chr11 1018238 1018238 T G rs77570745 MUC6 Synonymous SNV T1521T 0.444 0.44 0.02 164 521 169 0.421 6 0 0 0 0 0.56 3620 chr11 119043656 119043656 C T rs643423 NLRX1 Nonsynonymous SNV P63S 0.575 0.589 0.663 231 675 226 0.592 195 192 68 64 60 0.001 3621 chr11 1018245 1018245 T G rs76423553 MUC6 Nonsynonymous SNV N1519T 0.445 0.443 0.031 166 523 170 0.426 9 0 0 0 0 0.021 3622 chr1 109742485 109742485 G A rs913179 KIAA1324 Synonymous SNV S499S 0.726 0.753 0.745 282 852 289 0.723 219 301 112 82 98 9.534 3623 chr11 1017200 1017200 G C rs763772915 MUC6 Synonymous SNV A1867A 0.083 0.086 0.201 41 98 33 0.105 59 0 0 0 0 0.65 3624 chr11 101359750 101359750 G A rs36111323 TRPC6 Nonsynonymous SNV A404V 0.102 0.112 0.122 28 120 43 0.072 36 6 3 4 1 Benign 19.09 3625 chr11 119052826 119052826 C A rs4245191 NLRX1 Nonsynonymous SNV A793E 0.575 0.586 0.66 231 675 225 0.592 194 192 68 63 60 15.32 3626 chr11 1018246 1018246 T C rs79458257 MUC6 Nonsynonymous SNV N1519D 0.445 0.443 0.031 166 523 170 0.426 9 0 0 0 0 0.072 3627 chr1 109745618 109745618 T C rs1052878 KIAA1324 Nonsynonymous SNV L671P 0.893 0.909 0.878 351 1048 349 0.9 258 468 160 113 156 21.7 3628 chr11 119059404 119059404 G A rs1815811 PDZD3 Nonsynonymous SNV R372Q 0.601 0.602 0.677 243 705 231 0.623 199 214 71 67 70 0.351 3629 chr11 1018256 1018256 T G rs754099540 MUC6 Synonymous SNV S1515S 0.306 0.315 0 105 359 121 0.269 0 0 0 0 0 0.21 3630 chr1 109792735 109792735 - CGC rs144034706 CELSR2 P16_L17insP 0.706 0.698 0.694 286 829 268 0.733 204 331 107 79 116 3631 chr1 109794252 109794252 T C rs454107 CELSR2 Synonymous SNV S517S 0.951 0.958 0.959 377 1116 368 0.967 282 531 177 135 182 0.021 3632 chr11 101829006 101829006 G A rs61743062 CEP126 Nonsynonymous SNV R205K 0.032 0.031 0.048 16 38 12 0.041 14 1 0 0 1 0.001 3633 chr11 11913585 11913585 G T rs11022079 USP47 Nonsynonymous SNV G75V 0.687 0.714 0.745 260 806 274 0.667 219 269 98 81 83 14.28 3634 chr1 109795026 109795026 T C rs413380 CELSR2 Synonymous SNV Y775Y 0.951 0.956 0.959 377 1116 367 0.967 282 531 176 135 182 0.003 3635 chr1 109795608 109795608 T C rs437444 CELSR2 Synonymous SNV F969F 0.95 0.956 0.963 377 1115 367 0.967 283 530 176 136 182 0.08 3636 chr11 1018291 1018291 G C rs759694093 MUC6 Nonsynonymous SNV P1504A 0.426 0.406 0.034 159 500 156 0.408 10 0 0 0 0 0.001 3637 chr11 119181170 119181170 T C rs2249466 MCAM Synonymous SNV L600L 0.704 0.703 0.643 273 826 270 0.7 189 295 91 60 88 6.929 3638 chr11 1017921 1017921 C A rs112301388 MUC6 Nonsynonymous SNV S1627I 0.014 0.013 0.201 10 17 5 0.026 59 0 0 0 0 10.22 3639 chr11 1017883 1017883 C A rs79644784 MUC6 Nonsynonymous SNV A1640S 0.095 0.117 0.065 49 111 45 0.126 19 0 0 0 0 0.002 3640 chr11 119206375 119206375 G A rs2511841 RNF26 Synonymous SNV T181T 0.667 0.659 0.612 247 783 253 0.633 180 270 83 61 82 9.576 3641 chr1 109806834 109806834 C T rs6698843 CELSR2 Synonymous SNV P1712P 0.503 0.555 0.48 202 590 213 0.518 141 145 57 36 44 11.57 3642 chr11 119212363 119212363 C T rs138370910 MFRP Synonymous SNV A545A 0.009 0.003 0.007 3 11 1 0.008 2 0 0 0 0 Benign/Likely benign 19.56 3643 chr1 109807099 109807099 G A rs6689614 CELSR2 Synonymous SNV P1771P 0.503 0.555 0.48 201 590 213 0.515 141 145 57 36 44 0.102 3644 chr11 119216231 119216231 A G rs2510143 MFRP Synonymous SNV H180H 0.948 0.953 0.939 370 1113 366 0.949 276 528 174 130 175 Benign/Likely benign 0.128 3645 chr11 1017900 1017900 G T rs77920671 MUC6 Nonsynonymous SNV P1634H 0.08 0.102 0.075 43 94 39 0.11 22 0 0 0 0 12.56 3646 chr11 1017294 1017294 A T rs200241162 MUC6 Nonsynonymous SNV L1836H 0.12 0.112 0.153 54 141 43 0.138 45 0 0 0 0 22.5 3647 chr1 109810200 109810200 G A rs72703203 CELSR2 Nonsynonymous SNV R2015K 0.021 0.01 0.031 6 25 4 0.015 9 1 0 0 0 14.73 3648 chr11 119229964 119229964 G A rs2241646 USP2 Synonymous SNV Y103Y 0.719 0.734 0.82 276 844 282 0.708 241 303 100 99 96 8.765 3649 chr11 1018313 1018313 G T rs75499910 MUC6 Synonymous SNV T1496T 0.392 0.375 0.003 138 460 144 0.354 1 0 0 0 0 0.018 3650 chr11 119244095 119244095 C T rs587985 USP2 Synonymous SNV P32P 0.647 0.604 0.633 233 759 232 0.597 186 239 69 57 67 12.05 3651 chr1 109810201 109810201 G A rs72703204 CELSR2 Synonymous SNV R2015R 0.021 0.01 0.031 6 25 4 0.015 9 1 0 0 0 13.45 3652 chr11 119252199 119252199 T G rs670906 USP2 Nonsynonymous SNV Y10S 0.889 0.891 0.823 346 1044 342 0.887 242 464 154 100 152 17.49 3653 chr1 109816176 109816176 A C rs441853 CELSR2 Synonymous SNV G2876G 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 0.063 3654 chr1 109825360 109825360 C T rs643457 PSRC1 1 1 0.867 389 1174 384 0.997 255 587 192 127 194 22.5 3655 chr11 119510644 119510644 A C rs7940667 NECTIN1 Nonsynonymous SNV V361G 0.946 0.956 0.946 375 1111 367 0.962 278 525 175 131 180 Benign 1.197 3656 chr1 109838918 109838918 C T rs629001 MYBPHL Nonsynonymous SNV D269N 0.947 0.948 0.918 366 1112 364 0.938 270 526 173 126 172 23 3657 chr11 11976628 11976628 G A rs7933089 USP47 Synonymous SNV Q1096Q 0.819 0.826 0.796 321 961 317 0.823 234 389 129 96 128 6.239 3658 chr11 11977573 11977573 T C rs2307073 USP47 Synonymous SNV L1133L 0.292 0.286 0.241 111 343 110 0.285 71 60 21 9 16 0.767 3659 chr11 1018366 1018366 C T rs76741048 MUC6 Nonsynonymous SNV A1479T 0.395 0.414 0.116 147 464 159 0.377 34 0 0 0 0 0.021 3660 chr1 109839433 109839433 A G rs1278285 MYBPHL Synonymous SNV T234T 0.999 1 0.986 389 1173 384 0.997 290 586 192 143 194 0.753 3661 chr11 11986061 11986061 T C rs3206824 DKK3 Nonsynonymous SNV R335G 0.86 0.872 0.864 341 1010 335 0.874 254 434 146 113 147 0.344 3662 chr1 109884775 109884775 T G rs2228604 SORT1 Synonymous SNV T186T 0.767 0.776 0.806 307 900 298 0.787 237 338 115 97 117 9.804 3663 chr1 109897103 109897103 A G rs11142 SORT1 Synonymous SNV F62F 0.767 0.776 0.827 307 901 298 0.787 243 339 115 100 117 12.14 3664 chr11 119999191 119999191 A G rs569044 TRIM29 Synonymous SNV L12L 0.813 0.776 0.854 324 954 298 0.831 251 389 114 107 134 7.693 3665 chr1 110148698 110148698 C T rs777936715 GNAT2 Nonsynonymous SNV R205K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 3666 chr1 99418647 99418647 G C rs309087 PLPPR5 Synonymous SNV V200V 0.233 0.224 0.211 92 274 86 0.236 62 37 11 6 9 9.864 3667 chr11 120041110 120041110 T A rs7949789 LOC107984399 0 0 0.381 0 0 0 0 112 0 0 21 0 15.21 3668 chr11 1018379 1018379 G C rs765785447 MUC6 Synonymous SNV A1474A 0.15 0.164 0.003 63 176 63 0.162 1 0 0 0 0 0.15 3669 chr1 100154554 100154554 C A rs35183456 PALMD Synonymous SNV A246A 0.061 0.073 0.078 28 72 28 0.072 23 3 3 1 2 11.9 3670 chr1 110148974 110148974 C T rs1799875 GNAT2 Synonymous SNV T182T 0.501 0.49 0.483 214 588 188 0.549 142 149 44 31 53 Benign 18.42 3671 chr11 120041444 120041444 C T rs4936509 LOC107984399 0 0 0.548 0 0 0 0 161 0 0 41 0 2.578 3672 chr11 1018262 1018262 G C rs78003962 MUC6 Nonsynonymous SNV H1513Q 0.07 0.096 0 21 82 37 0.054 0 0 0 0 0 0.001 3673 chr11 1018385 1018385 T A rs7396380 MUC6 Synonymous SNV T1472T 0.415 0.438 0.109 164 487 168 0.421 32 0 0 0 0 2.685 3674 chr11 120099658 120099658 A G rs2508489 OAF Nonsynonymous SNV H210R 0.907 0.93 0.891 362 1065 357 0.928 262 485 166 119 169 0.002 3675 chr1 110170896 110170896 T C rs863978 AMPD2 Synonymous SNV H403H 0.717 0.721 0.738 281 842 277 0.721 217 302 105 79 101 0.271 3676 chr11 1018456 1018456 G A rs79920422 MUC6 Nonsynonymous SNV P1449S 0.403 0.432 0.054 145 473 166 0.372 16 0 0 0 0 0.001 3677 chr11 1018263 1018263 T G rs79680044 MUC6 Nonsynonymous SNV H1513P 0.071 0.096 0 21 83 37 0.054 0 0 0 0 0 0.001 3678 chr1 110201699 110201699 T C rs506008 GSTM4 Synonymous SNV F178F 0.833 0.849 0.85 331 978 326 0.849 250 411 140 106 139 0.016 3679 chr11 120099679 120099679 G A rs2508490 OAF Nonsynonymous SNV R217H 0.824 0.854 0.813 340 967 328 0.872 239 398 142 100 149 10.91 3680 chr1 100207818 100207818 C G rs41285734 FRRS1 Synonymous SNV V115V 0.045 0.047 0.024 14 53 18 0.036 7 1 0 0 1 9.586 3681 chr1 110279701 110279701 C T rs7483 GSTM3 Nonsynonymous SNV V224I 0.258 0.305 0.293 110 303 117 0.282 86 43 17 15 17 3.077 3682 chr11 1018483 1018483 C G rs78265558 MUC6 Nonsynonymous SNV E1440Q 0.452 0.461 0.044 176 531 177 0.451 13 0 0 0 0 0.002 3683 chr1 100316589 100316589 A G rs2307130 AGL 0.438 0.422 0.388 148 514 162 0.379 114 113 38 22 32 Benign 9.951 3684 chr11 120107411 120107411 G A rs882856 POU2F3 Nonsynonymous SNV G10E 0.733 0.758 0.711 311 861 291 0.797 209 317 113 76 130 11.26 3685 chr1 110295772 110295772 T C rs1887547 EPS8L3 Synonymous SNV S356S 0.537 0.568 0.565 231 630 218 0.592 166 169 61 43 67 0.007 3686 chr11 120175749 120175749 A G rs7110845 POU2F3 Nonsynonymous SNV H154R 0.476 0.526 0.537 194 559 202 0.497 158 160 60 51 58 7.557 3687 chr1 100472604 100472604 A G rs534252 SLC35A3 Synonymous SNV L119L 0.199 0.177 0.15 86 234 68 0.221 44 20 8 4 7 Benign 9.223 3688 chr1 110300441 110300441 G A rs3818562 EPS8L3 Nonsynonymous SNV H260Y 0.451 0.448 0.452 169 530 172 0.433 133 109 44 30 34 7.679 3689 chr11 120328858 120328858 T C rs766894 ARHGEF12 Synonymous SNV D746D 0.265 0.268 0.177 103 311 103 0.264 52 32 17 2 11 4.219 3690 chr11 102401411 102401411 A C rs55701929 MMP7 Nonsynonymous SNV C7W 0.026 0.01 0.02 9 30 4 0.023 6 0 1 0 0 0.007 3691 chr1 110466338 110466338 C A rs333970 CSF1 Synonymous SNV T365T 0.648 0.648 0.633 248 761 249 0.636 186 238 83 60 78 16.81 3692 chr11 120776001 120776001 G A rs2156634 GRIK4 Synonymous SNV E425E 0.837 0.852 0.867 330 983 327 0.846 255 418 139 110 139 12.29 3693 chr11 120989335 120989335 A G rs612969 TECTA Nonsynonymous SNV R371G 0.282 0.279 0.313 110 331 107 0.282 92 44 18 15 14 Benign 5.253 3694 chr1 101203698 101203698 C T rs3176878 VCAM1 Synonymous SNV D601D 0.175 0.185 0.139 77 206 71 0.197 41 16 8 4 8 3.969 3695 chr1 110466466 110466466 T C rs1058885 CSF1 Nonsynonymous SNV L408P 0.324 0.323 0.337 122 380 124 0.313 99 58 23 17 19 0.004 3696 chr11 120996292 120996292 A G rs536069 TECTA Synonymous SNV A495A 0.661 0.612 0.646 260 776 235 0.667 190 262 80 69 88 Benign 0.01 3697 chr1 110466709 110466709 T C rs333971 CSF1 Nonsynonymous SNV F489S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.319 3698 chr11 121000774 121000774 T C rs520805 TECTA Nonsynonymous SNV V932A 0.144 0.148 0.133 56 169 57 0.144 39 14 4 3 4 Benign/Likely benign 9.957 3699 chr1 103352451 103352451 A G rs2229783 COL11A1 Synonymous SNV I1474I 0.576 0.594 0.561 244 676 228 0.626 165 194 70 49 80 Benign 9.213 3700 chr1 110709719 110709719 T C rs7527375 SLC6A17 Synonymous SNV D56D 0.595 0.565 0.548 215 698 217 0.551 161 207 56 41 61 11.69 3701 chr11 121000784 121000784 T C rs586473 TECTA Synonymous SNV Y935Y 0.66 0.607 0.639 259 775 233 0.664 188 261 78 67 87 Benign 0.04 3702 chr1 110709720 110709720 G A rs12737742 SLC6A17 Nonsynonymous SNV A57T 0.506 0.482 0.456 183 594 185 0.469 134 147 37 28 42 13.72 3703 chr11 121016818 121016818 G A rs12275038 TECTA Synonymous SNV T1366T 0.164 0.154 0.214 66 192 59 0.169 63 13 8 4 3 Benign 8.913 3704 chr11 121032978 121032978 G A rs526433 TECTA Nonsynonymous SNV S1724N 0.987 0.995 0.99 383 1159 382 0.982 291 572 190 144 188 Benign 10.95 3705 chr1 110738296 110738296 G A rs2784140 SLC6A17 Synonymous SNV S527S 0.426 0.411 0.425 162 500 158 0.415 125 108 30 26 32 14.05 3706 chr1 103355059 103355059 G T rs55821405 COL11A1 Nonsynonymous SNV D1356E 0.005 0.003 0 6 6 1 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 3707 chr1 110882444 110882444 A G rs814771 RBM15 Synonymous SNV E139E 0.605 0.594 0.643 255 710 228 0.654 189 219 68 63 81 4.714 3708 chr11 121367626 121367626 T C rs12364988 SORL1 Synonymous SNV H269H 0.584 0.586 0.595 225 686 225 0.577 175 210 61 50 61 1.944 3709 chr1 110883569 110883569 A T rs3738752 RBM15 Synonymous SNV P514P 0.195 0.177 0.224 83 229 68 0.213 66 28 5 9 10 0.007 3710 chr11 121403229 121403229 T C rs636588 SORL1 Synonymous SNV A551A 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 11.27 3711 chr11 121437819 121437819 C G rs1699107 SORL1 Nonsynonymous SNV Q1074E 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 8.481 3712 chr11 1018459 1018459 G T rs199760270 MUC6 Nonsynonymous SNV P1448T 0.241 0.276 0.02 89 283 106 0.228 6 0 0 0 0 0.474 3713 chr1 110924353 110924353 G A rs3738750 SLC16A4 Synonymous SNV F33F 0.19 0.174 0.224 83 223 67 0.213 66 26 4 9 10 14.17 3714 chr1 103379918 103379918 G A rs3753841 COL11A1 Nonsynonymous SNV P1207L 0.592 0.596 0.551 248 695 229 0.636 162 226 82 49 88 Benign 26.7 3715 chr1 110998854 110998854 G A rs7514102 PROK1 Nonsynonymous SNV V67I 0.412 0.401 0.425 152 484 154 0.39 125 103 31 31 31 0.083 3716 chr11 121448090 121448090 T G rs2070045 SORL1 Synonymous SNV S1187S 0.251 0.206 0.224 93 295 79 0.238 66 38 9 6 17 9.848 3717 chr11 1018473 1018473 A T rs112923701 MUC6 Nonsynonymous SNV L1443H 0.239 0.258 0.01 87 281 99 0.223 3 0 0 0 0 12.18 3718 chr11 121475922 121475922 T A rs3824968 SORL1 Synonymous SNV A1584A 0.331 0.289 0.296 128 389 111 0.328 87 65 14 12 26 11.94 3719 chr1 103444638 103444638 G C rs370974962 COL11A1 Nonsynonymous SNV P762R 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 23 3720 chr11 121491782 121491782 G A rs1792120 SORL1 Nonsynonymous SNV V1967I 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 2.98 3721 chr1 111060669 111060669 T C rs1281175 KCNA10 Synonymous SNV L247L 0.759 0.82 0.748 307 891 315 0.787 220 339 128 81 126 0.016 3722 chr1 111061062 111061062 T C rs1281174 KCNA10 Synonymous SNV E116E 0.758 0.82 0.745 307 890 315 0.787 219 338 128 81 126 0.002 3723 chr11 121495940 121495940 G A rs149393026 SORL1 Synonymous SNV Q2106Q 0.003 0.01 0.003 4 4 4 0.01 1 0 0 0 0 Benign 12.31 3724 chr1 111494194 111494194 C T rs2232041 LRIF1 Nonsynonymous SNV A438T 0.223 0.229 0.19 98 262 88 0.251 56 31 14 6 10 11.82 3725 chr11 1018496 1018496 G T rs67341709 MUC6 Synonymous SNV T1435T 0.44 0.464 0.041 168 516 178 0.431 12 0 0 0 0 0.421 3726 chr11 12225946 12225946 T G rs3763823 MICAL2 Synonymous SNV R138R 0.507 0.529 0.558 230 595 203 0.59 164 139 50 48 71 8.374 3727 chr11 1026048 1026048 G A rs55965773 MUC6 Synonymous SNV D880D 0.193 0.169 0.177 88 227 65 0.226 52 21 11 6 10 2.164 3728 chr11 12229655 12229655 T G rs2279390 MICAL2 Synonymous SNV V186V 0.146 0.201 0.214 61 171 77 0.156 63 12 8 9 4 8.57 3729 chr11 1018523 1018523 A G rs73403301 MUC6 Synonymous SNV S1426S 0.269 0.315 0.024 98 316 121 0.251 7 0 0 0 0 0.005 3730 chr11 122646967 122646967 G A rs12790613 UBASH3B Nonsynonymous SNV A68T 0.294 0.297 0.381 119 345 114 0.305 112 49 20 18 19 24.9 3731 chr1 111730901 111730901 C T rs608881 DENND2D Synonymous SNV E394E 0.215 0.234 0.204 76 252 90 0.195 60 34 13 7 8 14.84 3732 chr11 102650389 102650389 C T rs17293607 MMP10 Nonsynonymous SNV G65R 0.179 0.141 0.122 51 210 54 0.131 36 18 2 3 3 22.5 3733 chr11 1018266 1018266 G A rs756760201 MUC6 Nonsynonymous SNV A1512V 0.261 0.289 0 96 307 111 0.246 0 0 0 0 0 0.136 3734 chr1 111778325 111778325 C T rs11556868 CHI3L2 Nonsynonymous SNV A172V 0.127 0.107 0.095 37 149 41 0.095 28 8 6 2 2 31 3735 chr11 122665437 122665437 A G rs872414 UBASH3B Synonymous SNV S301S 0.425 0.456 0.48 179 499 175 0.459 141 101 44 36 42 8.764 3736 chr11 1017921 1017921 C T rs112301388 MUC6 Nonsynonymous SNV S1627N 0.088 0.099 0.034 39 103 38 0.1 10 0 0 0 0 0.011 3737 chr11 122738261 122738261 A G rs2272094 CRTAM Nonsynonymous SNV K122R 0.733 0.776 0.765 294 860 298 0.754 225 320 115 88 111 0.328 3738 chr11 1018279 1018279 C T rs201852389 MUC6 Nonsynonymous SNV G1508R 0.334 0.31 0.027 117 392 119 0.3 8 0 0 0 0 0.443 3739 chr1 111783982 111783982 C A rs13721 CHI3L2 Synonymous SNV R308R 0.294 0.339 0.323 124 345 130 0.318 95 56 19 14 19 15.38 3740 chr11 102707305 102707305 G A rs569444 WTAPP1 0.161 0.169 0.116 47 189 65 0.121 34 14 4 1 3 1.392 3741 chr11 12315186 12315186 G A rs10741578 MICALCL Nonsynonymous SNV V70I 0.331 0.391 0.333 148 389 150 0.379 98 68 30 19 29 9.355 3742 chr11 1021268 1021268 T C rs113451874 MUC6 Nonsynonymous SNV N1179S 0.049 0.063 0.041 32 57 24 0.082 12 1 1 0 1 15.37 3743 chr1 111783996 111783996 A G rs2494007 CHI3L2 Synonymous SNV Q312Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.781 3744 chr11 1018290 1018290 G A rs776891354 MUC6 Nonsynonymous SNV P1504L 0.177 0.159 0 62 208 61 0.159 0 0 0 0 0 0.003 3745 chr11 102707339 102707339 C A rs639752 WTAPP1 0.516 0.51 0.507 200 606 196 0.513 149 161 51 42 47 4.874 3746 chr1 111857951 111857951 A G rs61756687 CHIA Nonsynonymous SNV K17R 0.106 0.086 0.075 37 125 33 0.095 22 6 1 0 1 12.11 3747 chr11 102707366 102707366 A T rs563096 WTAPP1 0.127 0.135 0.116 43 149 52 0.11 34 14 4 1 3 0.644 3748 chr11 12315407 12315407 G C rs10741579 MICALCL Synonymous SNV G143G 0.936 0.909 0.901 360 1099 349 0.923 265 512 157 119 167 0.083 3749 chr11 102398593 102398593 C T rs10502001 MMP7 Nonsynonymous SNV R77H 0.199 0.18 0.146 73 234 69 0.187 43 21 6 3 7 9.433 3750 chr11 102709425 102709425 A G rs520540 MMP3 Synonymous SNV A362A 0.513 0.518 0.497 203 602 199 0.521 146 161 51 42 48 Benign 3.06 3751 chr11 12315716 12315716 C T rs1493951 MICALCL Synonymous SNV A246A 0.936 0.909 0.898 359 1099 349 0.921 264 512 157 118 166 10.26 3752 chr1 111861841 111861841 A G rs2275253 CHIA Nonsynonymous SNV I178V 0.703 0.667 0.745 276 825 256 0.708 219 282 85 81 100 0.002 3753 chr11 12315848 12315848 C T rs1493952 MICALCL Synonymous SNV G290G 0.286 0.315 0.289 125 336 121 0.321 85 45 20 13 21 14.18 3754 chr11 102562700 102562700 C T rs2509010 MMP27 Nonsynonymous SNV D447N 0.229 0.234 0.221 92 269 90 0.236 65 34 12 6 12 23.4 3755 chr11 102713447 102713447 G C rs41380244 MMP3 Synonymous SNV T102T 0.101 0.117 0.105 56 118 45 0.144 31 5 0 1 1 Benign 0.012 3756 chr11 12315891 12315891 G A rs1493953 MICALCL Nonsynonymous SNV A305T 0.936 0.909 0.898 359 1099 349 0.921 264 512 157 118 166 1.621 3757 chr11 1018292 1018292 C T rs752980440 MUC6 Synonymous SNV T1503T 0.148 0.138 0 57 174 53 0.146 0 0 0 0 0 7.96 3758 chr11 1018248 1018248 G A MUC6 Nonsynonymous SNV T1518I 0.122 0.12 0 31 143 46 0.079 0 0 0 0 0 10.22 3759 chr1 111861974 111861974 T C rs2275254 CHIA Nonsynonymous SNV F193S 0.601 0.547 0.619 225 706 210 0.577 182 200 63 56 63 25.1 3760 chr11 102713465 102713465 A G rs602128 MMP3 Synonymous SNV D96D 0.522 0.523 0.51 203 613 201 0.521 150 162 51 43 47 Benign 0.007 3761 chr11 12315915 12315915 A G rs1493954 MICALCL Nonsynonymous SNV S313G 0.34 0.354 0.33 142 399 136 0.364 97 60 24 19 28 23.1 3762 chr11 102713620 102713620 T C rs679620 MMP3 Nonsynonymous SNV K45E 0.523 0.523 0.5 203 614 201 0.521 147 163 51 43 47 Benign 0.001 3763 chr11 1018299 1018299 G A rs200809011 MUC6 Nonsynonymous SNV P1501L 0.303 0.297 0.027 101 356 114 0.259 8 0 0 0 0 4.131 3764 chr1 111862952 111862952 T G rs2256721 CHIA Nonsynonymous SNV V271G 0.702 0.667 0.748 276 824 256 0.708 220 282 85 82 100 7.447 3765 chr11 123600475 123600475 A G rs1144507 ZNF202 Nonsynonymous SNV V154A 0.722 0.716 0.728 287 848 275 0.736 214 305 101 78 103 0.164 3766 chr11 102573569 102573569 C A rs3809018 MMP27 Synonymous SNV V178V 0.131 0.146 0.146 52 154 56 0.133 43 9 3 3 6 14.05 3767 chr11 123676388 123676388 G A rs76301014 OR6M1 Nonsynonymous SNV R224C 0.19 0.234 0.201 90 223 90 0.231 59 15 2 4 12 15.57 3768 chr1 111957097 111957097 C G rs7825 OVGP1 Nonsynonymous SNV E676Q 0.429 0.37 0.48 163 504 142 0.418 141 109 30 36 37 0.001 3769 chr11 1018279 1018279 C G MUC6 Nonsynonymous SNV G1508R 0.043 0.052 0 16 51 20 0.041 0 0 0 0 0 0.087 3770 chr11 1029320 1029320 C T rs11604757 MUC6 Nonsynonymous SNV G395R 0.122 0.094 0.122 53 143 36 0.136 36 10 3 3 4 18.46 3771 chr11 123753937 123753937 A G rs1939927 TMEM225 Nonsynonymous SNV C196R 0.83 0.841 0.854 333 974 323 0.854 251 397 135 107 143 0.001 3772 chr11 1018290 1018290 G C rs776891354 MUC6 Nonsynonymous SNV P1504R 0.103 0.115 0 27 121 44 0.069 0 0 0 0 0 0.001 3773 chr1 109472550 109472550 G A rs140949805 GPSM2 Synonymous SNV S681S 0.007 0.01 0.01 3 8 4 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 7.474 3774 chr1 111957245 111957245 G A rs9629 OVGP1 Synonymous SNV P626P 0.271 0.203 0.231 119 318 78 0.305 68 43 11 13 22 9.666 3775 chr1 111957502 111957525 TCACAGACTGATGACTCACAGGGG - rs201350653 OVGP1 T533_V540del 0.259 0.227 0.224 112 304 87 0.287 66 36 11 9 21 3776 chr11 102991516 102991516 A G rs116888435 DYNC2H1 Synonymous SNV Q411Q 0.039 0.039 0.034 13 46 15 0.033 10 0 0 0 1 Benign/Likely benign 1.506 3777 chr11 123754844 123754844 T C rs10893099 TMEM225 Nonsynonymous SNV N134S 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 0.001 3778 chr1 111957548 111957592 GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA - rs376377993 OVGP1 S511_T525del 0.245 0.214 0.218 103 288 82 0.264 64 32 11 9 17 3779 chr11 103029516 103029516 A G rs688906 DYNC2H1 Nonsynonymous SNV K1413R 0.667 0.703 0.728 267 783 270 0.685 214 337 118 86 116 Benign 20.3 3780 chr1 111957693 111957693 A G rs2485319 OVGP1 Nonsynonymous SNV M477T 0.434 0.378 0.476 163 509 145 0.418 140 108 30 35 37 0.045 3781 chr11 123777497 123777497 G A rs10750250 OR8D4 Nonsynonymous SNV C120Y 0.787 0.813 0.786 308 924 312 0.79 231 360 124 92 121 0.031 3782 chr11 123777498 123777498 C T rs10893102 OR8D4 Synonymous SNV C120C 0.218 0.224 0.218 81 256 86 0.208 64 28 12 8 9 7.364 3783 chr1 111966291 111966291 C T rs954739 OVGP1 Synonymous SNV K119K 0.204 0.188 0.153 87 240 72 0.223 45 22 6 4 13 10.9 3784 chr11 103052558 103052558 T C rs11225584 DYNC2H1 Synonymous SNV N2140N 0.08 0.068 0.088 31 94 26 0.079 26 0 3 1 2 Benign 0.289 3785 chr11 1018303 1018303 G A rs796770803 MUC6 Nonsynonymous SNV P1500S 0.101 0.12 0 30 119 46 0.077 0 0 0 0 0 0.023 3786 chr11 123777502 123777502 C T rs61907183 OR8D4 Nonsynonymous SNV R122C 0.084 0.094 0.092 36 99 36 0.092 27 4 3 0 0 26.6 3787 chr1 109735298 109735298 T C rs658779 KIAA1324 Synonymous SNV G245G 0.693 0.703 0.697 272 814 270 0.697 205 278 96 74 93 0.403 3788 chr1 112018657 112018657 G A rs6703267 C1orf162 Nonsynonymous SNV G3S 0.205 0.188 0.16 87 241 72 0.223 47 21 6 4 13 16.7 3789 chr11 103082590 103082590 G A rs589623 DYNC2H1 Nonsynonymous SNV R2871Q 0.807 0.831 0.806 317 947 319 0.813 237 406 141 98 134 Benign 23.3 3790 chr1 109735416 109735416 A C rs659543 KIAA1324 Nonsynonymous SNV T285P 0.693 0.703 0.697 272 814 270 0.697 205 278 96 74 93 0.001 3791 chr11 123777536 123777536 G A rs7926767 OR8D4 Nonsynonymous SNV R133K 0.692 0.708 0.667 265 812 272 0.679 196 275 93 65 90 0.035 3792 chr1 112042632 112042632 A G rs2229155 ADORA3 Synonymous SNV A299A 0.849 0.846 0.871 320 997 325 0.821 256 424 141 110 132 4.688 3793 chr1 109737063 109737063 C T rs2359246 KIAA1324 Synonymous SNV N318N 0.698 0.706 0.697 273 820 271 0.7 205 283 98 73 92 13.45 3794 chr11 123777736 123777736 T C rs10790610 OR8D4 Nonsynonymous SNV F200L 0.217 0.221 0.218 80 255 85 0.205 64 28 12 8 9 23 3795 chr1 112042787 112042787 T G rs35511654 ADORA3 Nonsynonymous SNV I248L 0.187 0.201 0.18 67 219 77 0.172 53 12 4 4 4 15.08 3796 chr1 109737090 109737090 G A rs2359245 KIAA1324 Synonymous SNV P327P 0.699 0.706 0.697 273 821 271 0.7 205 284 98 73 92 11.75 3797 chr11 1018329 1018329 T G MUC6 Nonsynonymous SNV K1491T 0.068 0.089 0 26 80 34 0.067 0 0 0 0 0 0.034 3798 chr1 109737132 109737132 T C rs2359244 KIAA1324 Synonymous SNV T341T 0.701 0.711 0.704 276 823 273 0.708 207 285 99 75 95 0.371 3799 chr11 123777986 123777986 T C rs7942047 OR8D4 Nonsynonymous SNV L283P 0.787 0.813 0.786 308 924 312 0.79 231 360 124 92 121 11.23 3800 chr11 102668717 102668717 A G rs139018071 MMP1 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 25.1 3801 chr1 112269872 112269872 G A rs197434 INKA2 Synonymous SNV F204F 0.824 0.82 0.81 319 967 315 0.818 238 396 132 95 133 11.87 3802 chr1 109737172 109737172 C T rs2359243 KIAA1324 Synonymous SNV L355L 0.699 0.706 0.697 273 821 271 0.7 205 284 98 73 92 16.38 3803 chr11 123778031 123778031 G A rs7927385 OR8D4 Nonsynonymous SNV R298K 0.691 0.708 0.667 265 811 272 0.679 196 276 93 65 90 0.986 3804 chr1 112298582 112298582 A G rs197392 DDX20 Synonymous SNV A12A 0.143 0.151 0.146 51 168 58 0.131 43 10 6 1 3 6.789 3805 chr1 112308953 112308953 T C rs197412 DDX20 Nonsynonymous SNV I636T 0.397 0.43 0.378 144 466 165 0.369 111 85 38 17 32 0.002 3806 chr11 123813823 123813823 G A rs7129884 OR6T1 Synonymous SNV C241C 0.221 0.227 0.231 83 259 87 0.213 68 31 14 9 9 2.43 3807 chr11 123813940 123813940 G C rs7130003 OR6T1 Synonymous SNV L202L 0.221 0.232 0.231 83 260 89 0.213 68 30 15 9 9 0.122 3808 chr11 123814489 123814489 A G rs4936859 OR6T1 Synonymous SNV S19S 0.221 0.227 0.231 83 260 87 0.213 68 32 14 9 9 0.109 3809 chr1 112308972 112308972 G A rs197413 DDX20 Synonymous SNV V642V 0.397 0.43 0.378 143 466 165 0.367 111 85 38 17 31 0.302 3810 chr11 123848121 123848121 T C rs17686210 OR10S1 Nonsynonymous SNV K93R 0.339 0.333 0.327 134 398 128 0.344 96 66 22 16 24 11.33 3811 chr1 112309123 112309123 C A rs197414 DDX20 Nonsynonymous SNV R693S 0.107 0.125 0.109 40 126 48 0.103 32 3 1 1 1 13.36 3812 chr11 123848212 123848212 C T rs17759513 OR10S1 Nonsynonymous SNV G63S 0.339 0.336 0.327 134 398 129 0.344 96 66 22 16 24 14.87 3813 chr1 112309331 112309331 T C rs85276 DDX20 Nonsynonymous SNV I762T 0.106 0.122 0.109 40 125 47 0.103 32 3 0 1 1 0.008 3814 chr11 10503736 10503736 C T rs11042836 AMPD3 Nonsynonymous SNV R26W 0.072 0.052 0.065 26 85 20 0.067 19 5 0 1 1 Benign/Likely benign 21.7 3815 chr11 1029135 1029135 C T rs59763899 MUC6 Nonsynonymous SNV E431K 0.048 0.065 0.041 31 56 25 0.079 12 1 1 0 1 15.04 3816 chr11 123886308 123886308 A G rs11219407 OR10G4 Synonymous SNV A9A 0.748 0.771 0.724 287 878 296 0.736 213 325 113 79 106 0.904 3817 chr11 123886320 123886320 A G rs12224056 OR10G4 Synonymous SNV T13T 0.197 0.229 0.194 74 231 88 0.19 57 25 13 5 5 0.011 3818 chr1 112991698 112991698 T C rs2256883 CTTNBP2NL Synonymous SNV N78N 0.652 0.604 0.67 221 766 232 0.567 197 255 66 65 65 5.86 3819 chr11 123886352 123886352 T C rs547068 OR10G4 Nonsynonymous SNV L24P 0.201 0.229 0.194 74 236 88 0.19 57 25 13 5 5 0.005 3820 chr11 1051715 1051715 T C rs10794359 LINC02688 0.57 0.563 0 229 669 216 0.587 0 195 66 0 65 2.233 3821 chr11 102980324 102980324 C T rs17301028 DYNC2H1 Synonymous SNV D7D 0.095 0.109 0.119 41 112 42 0.105 35 6 4 2 2 Benign/Likely benign 17.65 3822 chr1 112999227 112999227 G A rs1175641 CTTNBP2NL Synonymous SNV Q371Q 0.875 0.854 0.864 329 1027 328 0.844 254 451 136 111 138 0.076 3823 chr1 109810183 109810183 C T rs61761209 CELSR2 Synonymous SNV R2009R 0.075 0.073 0.058 19 88 28 0.049 17 0 0 0 1 17.26 3824 chr1 113063125 113063125 A G rs910697 WNT2B Synonymous SNV Q298Q 0.44 0.464 0.48 180 517 178 0.462 141 113 42 35 39 0.729 3825 chr11 123886865 123886865 T A rs4084209 OR10G4 Nonsynonymous SNV V195E 0.75 0.771 0.721 287 881 296 0.736 212 325 113 78 107 0.328 3826 chr1 113098534 113098534 C T rs6658555 ST7L Nonsynonymous SNV R268Q 0.282 0.313 0.286 129 331 120 0.331 84 46 14 8 21 24.8 3827 chr11 123887175 123887175 G A rs61908597 OR10G4 Synonymous SNV V298V 0.081 0.094 0.099 38 95 36 0.097 29 4 3 0 0 9.432 3828 chr11 10647995 10647995 G A rs35468145 MRVI1 Nonsynonymous SNV L288F 0.049 0.034 0.051 18 57 13 0.046 15 2 0 1 1 23.3 3829 chr1 113143420 113143420 T C rs116580400 ST7L Nonsynonymous SNV R168G 0.05 0.049 0.027 29 59 19 0.074 8 0 1 0 1 19.54 3830 chr11 123887184 123887184 T G rs4936882 OR10G4 Synonymous SNV L301L 0.751 0.771 0.721 288 882 296 0.738 212 326 113 78 107 0.225 3831 chr11 123893758 123893758 G C rs140807602 OR10G9 Synonymous SNV T13T 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 4.986 3832 chr11 123894136 123894136 A G rs28499345 OR10G9 Synonymous SNV R139R 0.843 0.878 0.847 330 990 337 0.846 249 415 148 106 141 Benign 0.002 3833 chr11 103057063 103057063 G T rs200600809 DYNC2H1 Synonymous SNV V2242V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Likely benign 1.666 3834 chr1 113255389 113255389 C T rs10857971 PPM1J Nonsynonymous SNV V236I 0.998 0.997 0.901 387 1172 383 0.992 265 586 191 131 192 14.51 3835 chr11 123894234 123894234 A G rs11219413 OR10G9 Nonsynonymous SNV Q172R 0.204 0.234 0.204 75 240 90 0.192 60 27 13 5 6 0.002 3836 chr1 113456546 113456546 A T rs1049434 SLC16A1 Nonsynonymous SNV D490E 0.613 0.633 0.595 254 720 243 0.651 175 229 77 54 83 Benign 0.02 3837 chr11 123894402 123894402 A G rs12221656 OR10G9 Nonsynonymous SNV H228R 0.204 0.24 0.204 77 240 92 0.197 60 27 13 5 6 0.002 3838 chr11 102576382 102576382 G A rs12099177 MMP27 Nonsynonymous SNV R22W 0.059 0.073 0.088 22 69 28 0.056 26 3 0 1 0 23.9 3839 chr1 110170728 110170728 G A rs34030799 AMPD2 Synonymous SNV S347S 0.015 0.034 0.024 10 18 13 0.026 7 0 0 0 0 Benign 11.79 3840 chr11 123894553 123894553 G A rs61908612 OR10G9 Synonymous SNV L278L 0.081 0.094 0.099 38 95 36 0.097 29 4 3 0 0 0.129 3841 chr1 113657092 113657092 A C rs1216793 LRIG2 Synonymous SNV T708T 0.991 0.982 0.969 389 1163 377 0.997 285 576 185 138 194 0.012 3842 chr11 123894556 123894556 A G rs12574086 OR10G9 Synonymous SNV T279T 0.086 0.096 0.109 40 101 37 0.103 32 4 3 0 0 0.001 3843 chr11 106888608 106888608 G A rs3107973 GUCY1A2 Synonymous SNV A58A 0.271 0.279 0.299 105 318 107 0.269 88 55 24 17 14 5.551 3844 chr1 114377568 114377568 A G rs2476601 PTPN22 Nonsynonymous SNV W565R 0.957 0.956 0.973 369 1124 367 0.946 286 537 176 139 175 10.78 3845 chr11 103780455 103780455 A G rs10791649 PDGFD Synonymous SNV C360C 0.467 0.492 0.466 169 548 189 0.433 137 132 40 33 40 1.382 3846 chr11 102587062 102587062 G A rs3740938 MMP8 Synonymous SNV L291L 0.06 0.06 0.095 23 71 23 0.059 28 3 0 1 0 10.78 3847 chr11 123909073 123909073 C G rs11219419 OR10G7 Synonymous SNV L212L 0.208 0.247 0.207 70 244 95 0.179 61 25 14 5 4 0.022 3848 chr11 123909172 123909172 G A rs28414940 OR10G7 Synonymous SNV D179D 0.205 0.242 0.218 71 241 93 0.182 64 25 14 5 4 8.365 3849 chr11 103818395 103818395 T C rs35045740 PDGFD Nonsynonymous SNV I190V 0.08 0.107 0.071 30 94 41 0.077 21 5 2 2 0 1.209 3850 chr1 114424601 114424601 C T rs1217381 BCL2L15 Nonsynonymous SNV D90N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.163 3851 chr11 123909342 123909342 G A rs470242 OR10G7 Synonymous SNV L123L 0.208 0.24 0.214 70 244 92 0.179 63 26 14 5 4 5.551 3852 chr11 123909650 123909650 C G rs3894199 OR10G7 Nonsynonymous SNV G20A 0.187 0.211 0.218 71 219 81 0.182 64 3 0 2 0 0.001 3853 chr1 114443035 114443035 C G rs3789613 AP4B1-AS1 0.308 0.344 0.323 132 362 132 0.338 95 62 23 16 22 Benign/Likely benign 4.342 3854 chr11 107299623 107299623 A C rs35968518 CWF19L2 Nonsynonymous SNV H445Q 0.025 0.023 0.027 13 29 9 0.033 8 0 0 0 0 0.001 3855 chr11 123909653 123909653 G T rs4998340 OR10G7 Nonsynonymous SNV P19Q 0.187 0.211 0.218 71 219 81 0.182 64 3 0 2 0 0.011 3856 chr1 114448389 114448389 C T rs11552449 DCLRE1B Nonsynonymous SNV H61Y 0.157 0.177 0.146 67 184 68 0.172 43 19 7 4 8 11.67 3857 chr11 1017655 1017655 G A rs201234174 MUC6 Nonsynonymous SNV P1716S 0.129 0.115 0.119 49 152 44 0.126 35 0 0 0 0 0.006 3858 chr11 102668022 102668022 C T rs10488 MMP1 Synonymous SNV G39G 0.032 0.026 0.048 9 37 10 0.023 14 0 0 0 0 Benign 11.25 3859 chr11 123909656 123909656 G A rs3894198 OR10G7 Nonsynonymous SNV A18V 0.187 0.211 0.218 71 219 81 0.182 64 3 0 2 0 2.559 3860 chr1 114449662 114449662 T C rs3761936 DCLRE1B Synonymous SNV H78H 0.157 0.177 0.153 66 184 68 0.169 45 19 7 4 8 3.368 3861 chr11 1075747 1075747 T C rs2856111 MUC2 Nonsynonymous SNV L58P 0.121 0.089 0.146 42 142 34 0.108 43 8 1 5 3 22.6 3862 chr1 110301260 110301260 C T rs6693815 EPS8L3 Nonsynonymous SNV G130S 0.202 0.208 0.197 97 237 80 0.249 58 27 6 8 13 9.19 3863 chr11 123909695 123909695 G C rs3894197 OR10G7 Nonsynonymous SNV T5S 0.734 0.758 0.735 280 862 291 0.718 216 312 108 81 99 0.006 3864 chr1 114505000 114505000 G A rs17852555 HIPK1 Synonymous SNV P287P 0.241 0.219 0.201 82 283 84 0.21 59 34 10 9 9 14.08 3865 chr11 10786175 10786175 C T rs7118399 CTR9 Synonymous SNV T498T 0.302 0.266 0.248 105 355 102 0.269 73 49 13 6 15 6.305 3866 chr1 114515717 114515717 G A rs2358996 HIPK1 Synonymous SNV A678A 0.468 0.466 0.442 168 549 179 0.431 130 134 44 24 39 10.75 3867 chr11 102641531 102641531 T A rs17861009 MMP10 Nonsynonymous SNV H475L 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 10.53 3868 chr11 124007890 124007890 G A rs34188444 VWA5A Synonymous SNV P598P 0.043 0.044 0.051 7 51 17 0.018 15 1 0 1 0 10.95 3869 chr11 124015994 124015994 C T rs1056615 VWA5A Synonymous SNV H735H 0.551 0.534 0.616 224 647 205 0.574 181 184 51 54 66 6.619 3870 chr1 114680310 114680310 G A rs41274114 SYT6 Nonsynonymous SNV T293I 0.19 0.214 0.173 50 223 82 0.128 51 22 7 5 1 24.2 3871 chr11 124095414 124095414 C G rs10893172 OR8G2P Nonsynonymous SNV S6C 0.328 0.339 0.32 124 385 130 0.318 94 57 21 15 21 1.466 3872 chr11 108009660 108009660 C A rs35188041 ACAT1 Synonymous SNV S157S 0.146 0.164 0.122 55 171 63 0.141 36 12 5 2 3 Benign 16.92 3873 chr11 124095525 124095525 T C rs11219508 OR8G2P Nonsynonymous SNV L43P 0.328 0.339 0.316 123 385 130 0.315 93 57 21 14 21 3.082 3874 chr1 114948281 114948281 A G rs6537825 TRIM33 Nonsynonymous SNV I840T 0.889 0.872 0.84 344 1044 335 0.882 247 460 146 102 150 8.995 3875 chr11 1027174 1027174 G A rs79139625 MUC6 Synonymous SNV L751L 0.043 0.081 0.031 20 50 31 0.051 9 3 1 0 1 5.638 3876 chr11 124095647 124095647 A C rs2466615 OR8G2P Nonsynonymous SNV I84L 0.436 0.461 0.412 178 512 177 0.456 121 97 42 26 43 0.318 3877 chr11 108044091 108044091 T A rs4144901 NPAT Nonsynonymous SNV L540F 0.091 0.094 0.085 44 107 36 0.113 25 6 1 0 3 23.1 3878 chr11 124096122 124096122 G A rs7946182 OR8G2P Nonsynonymous SNV R242H 0.214 0.211 0.299 65 251 81 0.167 88 51 19 12 20 7.38 3879 chr1 115168097 115168097 T C rs12136548 DENND2C Nonsynonymous SNV D170G 0.215 0.182 0.252 88 252 70 0.226 74 20 6 8 8 1.52 3880 chr11 124096195 124096195 G A rs7946214 OR8G2P Synonymous SNV G266G 0.341 0.357 0.327 132 400 137 0.338 96 61 24 17 23 13.64 3881 chr11 104877927 104877927 T C rs507879 CASP5 Nonsynonymous SNV T48A 0.377 0.432 0.354 149 443 166 0.382 104 81 38 17 23 0.001 3882 chr11 124096247 124096247 G A rs2466613 OR8G2P Nonsynonymous SNV G284R 0.429 0.458 0.405 176 504 176 0.451 119 93 41 25 43 5.859 3883 chr11 1080576 1080576 G A rs41349846 MUC2 Synonymous SNV T406T 0.118 0.078 0.088 49 139 30 0.126 26 8 0 2 5 13.5 3884 chr1 110735290 110735290 C T rs62636569 SLC6A17 Synonymous SNV D423D 0.042 0.044 0.027 19 49 17 0.049 8 1 0 0 0 12.93 3885 chr1 115221116 115221116 C A rs61752478 AMPD1 Nonsynonymous SNV M339I 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 3886 chr11 124180054 124180054 C A rs148861414 OR8D1 Synonymous SNV A203A 0 0 0.003 0 0 0 0 1 0 0 0 0 14 3887 chr11 124294703 124294703 T C rs10750270 OR8B4 Nonsynonymous SNV E22G 0.315 0.326 0.35 127 370 125 0.326 103 56 19 23 22 1.484 3888 chr11 102991197 102991197 C T rs17301182 DYNC2H1 Nonsynonymous SNV H341Y 0.084 0.055 0.068 33 99 21 0.085 20 3 1 0 3 Benign/Likely benign 15.37 3889 chr11 104899901 104899901 T C rs61751523 CASP1 Nonsynonymous SNV K298R 0.033 0.034 0.024 17 39 13 0.044 7 1 0 0 0 0.003 3890 chr1 115231254 115231254 G A rs61752479 AMPD1 Nonsynonymous SNV P77L 0.107 0.112 0.116 39 126 43 0.1 34 6 3 3 0 Likely benign, other 27.8 3891 chr11 124310622 124310622 A G rs4296049 OR8B8 Synonymous SNV Y120Y 0.271 0.286 0.289 102 318 110 0.262 85 48 21 12 13 0.008 3892 chr11 1081074 1081074 T C rs41411848 MUC2 Nonsynonymous SNV V457A 0.224 0.211 0.194 94 263 81 0.241 57 34 9 5 13 17.11 3893 chr1 110921715 110921715 T G rs2271885 SLC16A4 Nonsynonymous SNV N154H 0.04 0.047 0.027 17 47 18 0.044 8 1 0 0 0 0.208 3894 chr11 104900488 104900488 G A rs580253 CASP1 Synonymous SNV L235L 0.134 0.154 0.109 46 157 59 0.118 32 11 7 1 2 0.877 3895 chr11 124440362 124440362 C G rs55861866 OR8A1 Nonsynonymous SNV T116R 0.394 0.37 0.425 130 462 142 0.333 125 92 21 28 25 25.1 3896 chr1 115236057 115236057 G A rs17602729 AMPD1 Stop gain Q45X 0.105 0.109 0.112 37 123 42 0.095 33 5 3 2 0 Uncertain significance, other 36 3897 chr11 1081112 1081112 G C rs41345745 MUC2 Nonsynonymous SNV E470Q 0.223 0.206 0.194 92 262 79 0.236 57 33 9 5 12 20.9 3898 chr11 104905047 104905047 G A rs539595 CASP1 Synonymous SNV T54T 0.134 0.154 0.109 47 157 59 0.121 32 11 7 1 2 2.822 3899 chr1 110950439 110950439 C T rs6674775 LAMTOR5 Nonsynonymous SNV S17N 0.374 0.365 0.354 145 439 140 0.372 104 83 28 19 25 10.86 3900 chr11 124440617 124440617 C T rs12792184 OR8A1 Nonsynonymous SNV S201L 0.779 0.708 0.782 292 914 272 0.749 230 358 92 92 114 13.54 3901 chr11 104912221 104912221 T A rs542571 CARD16 Nonsynonymous SNV N167I 0.139 0.164 0.112 47 163 63 0.121 33 14 7 1 2 0.003 3902 chr1 115576023 115576023 A G rs10776792 TSHB Nonsynonymous SNV T14A 0.978 0.982 0.966 378 1148 377 0.969 284 562 186 137 184 Benign 0.001 3903 chr11 1081483 1081483 C T rs72655308 MUC2 Nonsynonymous SNV R501W 0.009 0.005 0.007 7 11 2 0.018 2 0 0 0 0 23.1 3904 chr11 103059308 103059308 C G DYNC2H1 Nonsynonymous SNV A2408G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 3905 chr11 124489567 124489567 T C rs34237602 PANX3 Synonymous SNV Y305Y 0.012 0.018 0.014 4 14 7 0.01 4 0 0 1 0 0.023 3906 chr11 1051657 1051657 - C rs145622139 LINC02688 0.18 0.169 0 68 211 65 0.174 0 22 8 0 9 3907 chr11 108160350 108160350 C T rs1800058 ATM Nonsynonymous SNV L1420F 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.68 3908 chr1 115604798 115604798 C T rs10776795 TSPAN2 Synonymous SNV G76G 0.364 0.391 0.357 153 427 150 0.392 105 80 33 20 38 17.84 3909 chr11 1246941 1246941 A G rs2672785 MUC5B Nonsynonymous SNV E34G 0.216 0.203 0.221 95 254 78 0.244 65 22 8 10 9 Benign 3.82 3910 chr11 103006557 103006557 G A rs77738279 DYNC2H1 Synonymous SNV E818E 0.04 0.057 0.041 16 47 22 0.041 12 1 1 0 0 Benign/Likely benign 3.897 3911 chr11 10527410 10527410 G A AMPD3 Synonymous SNV E602E 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 9.906 3912 chr1 115829313 115829313 G A rs6330 NGF Nonsynonymous SNV A35V 0.419 0.414 0.381 154 492 159 0.395 112 99 37 26 30 Benign 19.04 3913 chr11 1081757 1081757 G C rs57737240 MUC2 Nonsynonymous SNV S562T 0.223 0.206 0.19 95 262 79 0.244 56 33 9 5 12 0.047 3914 chr11 1247458 1247458 C T rs2075853 MUC5B Nonsynonymous SNV R51W 0.053 0.042 0.092 22 62 16 0.056 27 1 1 2 1 Benign 9.927 3915 chr11 105797641 105797641 A G rs12787449 GRIA4 Synonymous SNV S674S 0.032 0.034 0.034 22 37 13 0.056 10 1 0 0 0 8.788 3916 chr11 105880660 105880660 A G rs77581633 MSANTD4 Synonymous SNV L214L 0.027 0.036 0.01 11 32 14 0.028 3 1 1 0 0 0.01 3917 chr11 124747837 124747837 G A rs7933204 ROBO3 Synonymous SNV A46A 0.663 0.646 0.707 264 778 248 0.677 208 265 74 69 88 Benign 13.2 3918 chr1 116534852 116534852 C T rs4046190 SLC22A15 Synonymous SNV S96S 0.582 0.589 0.531 221 683 226 0.567 156 193 66 39 67 12.76 3919 chr11 124789755 124789755 T C rs3802904 HEPN1 Nonsynonymous SNV W37R 0.704 0.667 0.745 271 827 256 0.695 219 292 88 84 97 Benign 0.004 3920 chr1 116569530 116569530 G C rs2488429 SLC22A15 Synonymous SNV L205L 0.972 0.969 0.946 372 1141 372 0.954 278 555 180 135 177 10.39 3921 chr1 111825261 111825261 G A rs4418594 CHIAP2 0.371 0.44 0.044 179 436 169 0.459 13 93 36 6 39 15.97 3922 chr1 117122130 117122130 T C rs6703791 IGSF3 Nonsynonymous SNV Q1073R 0.187 0.156 0.17 71 219 60 0.182 50 12 4 6 6 0.001 3923 chr11 124789828 124789828 A T rs78859654 HEPN1 Nonsynonymous SNV H61L 0.093 0.081 0.078 36 109 31 0.092 23 9 1 2 1 Benign 0.002 3924 chr11 1083293 1083293 T C rs7394853 MUC2 Synonymous SNV D731D 0.224 0.206 0.194 94 263 79 0.241 57 34 9 5 11 0.003 3925 chr11 103158278 103158278 C T rs10895391 DYNC2H1 Nonsynonymous SNV A3680V 0.321 0.313 0.354 99 377 120 0.254 104 54 24 22 13 Benign 25 3926 chr1 117122285 117122285 - TCC rs576658823 IGSF3 D1020_D1021insE 0.31 0.341 0.248 112 364 131 0.287 73 60 23 13 16 3927 chr11 124793682 124793682 T C rs10790715 HEPACAM Nonsynonymous SNV M218V 0.702 0.654 0.735 266 824 251 0.682 216 285 87 81 92 Benign 0.286 3928 chr11 103349922 103349922 G C rs144717489 DYNC2H1 Nonsynonymous SNV G4289R 0.023 0.026 0.017 10 27 10 0.026 5 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 3929 chr1 117122288 117122288 G C rs647711 IGSF3 Nonsynonymous SNV D1020E 0.319 0.341 0.316 117 375 131 0.3 93 63 24 18 18 Benign 2.851 3930 chr11 124793716 124793716 G A rs10790716 HEPACAM Synonymous SNV R206R 0.238 0.193 0.231 75 279 74 0.192 68 35 8 9 10 Benign 11.69 3931 chr11 124794688 124794688 C T rs112686308 HEPACAM Synonymous SNV E121E 0.043 0.031 0.044 16 51 12 0.041 13 4 0 0 0 Benign 11.89 3932 chr11 108464209 108464209 T C rs2640738 EXPH5 Nonsynonymous SNV R19G 0.379 0.354 0.357 169 445 136 0.433 105 77 28 23 42 24.6 3933 chr1 117487710 117487710 A G rs10159095 PTGFRN Synonymous SNV P276P 0.891 0.917 0.915 356 1046 352 0.913 269 463 161 123 161 8.17 3934 chr11 124857708 124857708 G A rs4936966 CCDC15 Nonsynonymous SNV G529D 0.222 0.263 0.259 101 261 101 0.259 76 30 15 11 11 3.277 3935 chr1 117487711 117487711 T A rs4546904 PTGFRN Nonsynonymous SNV S277T 0.891 0.917 0.915 356 1046 352 0.913 269 463 161 123 161 11.07 3936 chr11 107197640 107197640 T C rs3758911 CWF19L2 Nonsynonymous SNV Y894C 0.257 0.245 0.282 99 302 94 0.254 83 32 13 10 10 22.9 3937 chr11 1084821 1084821 T C rs10794288 MUC2 Synonymous SNV D872D 0.224 0.206 0.194 95 263 79 0.244 57 34 9 5 11 0.059 3938 chr11 124862514 124862514 A G rs6590113 CCDC15 Synonymous SNV E690E 0.222 0.263 0.259 101 261 101 0.259 76 30 15 11 11 0.057 3939 chr11 1087972 1087972 C T rs10902088 MUC2 Synonymous SNV N1149N 0.206 0.198 0.184 88 242 76 0.226 54 27 8 3 9 10.5 3940 chr1 117529458 117529458 G A rs10801922 PTGFRN Nonsynonymous SNV V837I 0.444 0.432 0.51 160 521 166 0.41 150 115 34 43 35 9.968 3941 chr11 104768141 104768141 G A rs138698464 CASP12 Nonsynonymous SNV T21I 0.027 0.029 0.031 7 32 11 0.018 9 0 0 1 0 12.77 3942 chr11 124947396 124947396 A G rs55752830 SLC37A2 Nonsynonymous SNV I96V 0.387 0.417 0.395 161 454 160 0.413 116 87 28 22 32 0.153 3943 chr11 107299631 107299631 G A rs659040 CWF19L2 Nonsynonymous SNV H443Y 0.247 0.237 0.265 106 290 91 0.272 78 36 13 10 20 0.001 3944 chr11 124955032 124955032 T C rs948268 SLC37A2 Synonymous SNV D415D 0.628 0.617 0.626 219 737 237 0.562 184 227 72 56 64 0.431 3945 chr1 117559726 117559726 A G rs2249265 CD101 Nonsynonymous SNV M415V 0.973 0.979 0.98 370 1142 376 0.949 288 555 184 141 175 0.001 3946 chr11 102248406 102248406 A G rs61754131 BIRC2 Nonsynonymous SNV K516E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 28.4 3947 chr11 107375422 107375422 C A rs117249984 ALKBH8 Nonsynonymous SNV D656Y 0.03 0.052 0.041 16 35 20 0.041 12 0 0 0 1 35 3948 chr1 112298829 112298829 T C rs197393 DDX20 Synonymous SNV L95L 0.119 0.143 0.194 67 140 55 0.172 57 49 25 14 23 6.99 3949 chr11 124972208 124972208 A G rs14065 TMEM218 Nonsynonymous SNV L12S 0.752 0.784 0.776 295 883 301 0.756 228 338 119 88 108 2.804 3950 chr11 1250488 1250488 C T rs2075859 MUC5B Synonymous SNV C355C 0.322 0.318 0.354 109 378 122 0.279 104 65 20 18 17 Benign 9.939 3951 chr1 117617705 117617705 A G rs998532 TTF2 Nonsynonymous SNV K167E 0.58 0.594 0.582 244 681 228 0.626 171 192 73 52 77 0.39 3952 chr11 102272277 102272277 G T rs12275185 TMEM123 Synonymous SNV R199R 0.055 0.055 0.054 11 64 21 0.028 16 3 0 0 0 12.23 3953 chr11 12525925 12525925 C T rs11547363 PARVA Synonymous SNV R202R 0.126 0.112 0.129 43 148 43 0.11 38 9 2 3 2 21 3954 chr11 102272839 102272839 C A rs11547915 TMEM123 Nonsynonymous SNV V86F 0.055 0.055 0.054 11 65 21 0.028 16 3 0 0 0 17.56 3955 chr11 110007835 110007835 G A rs200420973 ZC3H12C Nonsynonymous SNV D157N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.91 3956 chr11 1252708 1252708 G C rs2735709 MUC5B Synonymous SNV L532L 0.496 0.479 0.503 188 582 184 0.482 148 139 42 40 47 Benign 0.075 3957 chr11 107535758 107535758 G A rs647756 ELMOD1 Synonymous SNV L272L 0.052 0.078 0.095 24 61 30 0.062 28 3 1 2 1 6.777 3958 chr11 1018329 1018329 T A rs75968137 MUC6 Nonsynonymous SNV K1491M 0.115 0.102 0.003 34 135 39 0.087 1 0 0 0 0 0.236 3959 chr1 117618067 117618067 C T rs1289673 TTF2 Synonymous SNV N287N 0.58 0.594 0.578 244 681 228 0.626 170 191 73 51 77 3.298 3960 chr11 1253942 1253942 T C rs908229 MUC5B Synonymous SNV Y669Y 0.617 0.607 0.616 239 724 233 0.613 181 139 41 40 44 Benign 0.001 3961 chr11 10786142 10786142 C T rs3736326 CTR9 Synonymous SNV H487H 0.594 0.633 0.633 235 697 243 0.603 186 205 72 61 70 6.716 3962 chr11 1253969 1253969 A G rs72846370 MUC5B Synonymous SNV V678V 0.5 0.5 0.439 194 587 192 0.497 129 0 0 0 0 Benign 0.653 3963 chr1 117656088 117656088 A G rs1289658 TRIM45 Nonsynonymous SNV M478T 0.404 0.43 0.418 162 474 165 0.415 123 94 37 25 32 0.952 3964 chr11 1253976 1253976 A G rs76956995 MUC5B Nonsynonymous SNV S681G 0.5 0.497 0.429 194 587 191 0.497 126 0 0 0 0 0.006 3965 chr11 1018340 1018340 T C rs77556339 MUC6 Synonymous SNV P1487P 0.141 0.154 0 38 165 59 0.097 0 0 0 0 0 0.033 3966 chr1 117660754 117660754 C T rs749902 TRIM45 Nonsynonymous SNV C375Y 0.303 0.318 0.32 123 356 122 0.315 94 54 21 15 22 0.005 3967 chr11 1018341 1018341 G A rs79748612 MUC6 Nonsynonymous SNV P1487L 0.129 0.146 0.003 38 151 56 0.097 1 0 0 0 0 2.273 3968 chr11 1253980 1253980 A G rs202127660 MUC5B Nonsynonymous SNV D682G 0.498 0.5 0.412 194 585 192 0.497 121 0 0 0 0 4.865 3969 chr11 10603528 10603528 T C rs186818613 MRVI1 Nonsynonymous SNV K434R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.9 3970 chr1 112533728 112533728 G A rs59747755 LINC01750 0.13 0.115 0.112 59 153 44 0.151 33 11 7 1 2 10.67 3971 chr1 118065541 118065541 G A rs41296190 MAN1A2 Nonsynonymous SNV A630T 0.02 0.034 0.017 12 23 13 0.031 5 0 0 0 0 15.31 3972 chr11 108032707 108032707 G T rs35303872 NPAT Nonsynonymous SNV L1043I 0.05 0.044 0.051 17 59 17 0.044 15 1 1 0 0 3.374 3973 chr11 125443371 125443371 G A rs551587222 STT3A-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.958 3974 chr11 125452300 125452300 - C rs397812741 EI24 Frameshift insertion W246Lfs*18 0.99 0.99 0.99 387 1162 380 0.992 291 581 190 145 193 3975 chr11 108043988 108043988 C T rs2070661 NPAT Nonsynonymous SNV V575I 0.687 0.661 0.707 264 807 254 0.677 208 273 84 79 91 0.572 3976 chr1 118165691 118165691 C T rs1630312 TENT5C Synonymous SNV H67H 0.244 0.24 0.245 91 286 92 0.233 72 40 10 15 7 11.52 3977 chr11 125525195 125525195 A G rs506504 CHEK1 Nonsynonymous SNV I437V 0.961 0.94 0.959 370 1128 361 0.949 282 545 172 135 178 Benign 0.83 3978 chr1 118165973 118165973 C T rs1627787 TENT5C Synonymous SNV N161N 0.303 0.326 0.245 125 356 125 0.321 72 49 19 10 24 9.193 3979 chr11 10650367 10650367 G A rs35857561 MRVI1 Nonsynonymous SNV P186S 0.065 0.049 0.024 26 76 19 0.067 7 2 1 0 0 23.3 3980 chr11 1255773 1255773 C T rs7116614 MUC5B Synonymous SNV C831C 0.291 0.281 0.323 95 342 108 0.244 95 54 14 14 12 Benign 12.45 3981 chr1 118166096 118166096 C T rs2884587 TENT5C Synonymous SNV I202I 0.21 0.227 0.177 86 247 87 0.221 52 24 11 7 13 10.39 3982 chr11 125617606 125617606 G A rs537916 PATE1 Nonsynonymous SNV V46I 0.294 0.318 0.323 112 345 122 0.287 95 47 19 14 18 0.002 3983 chr1 118598470 118598470 C T rs761809399 SPAG17 Nonsynonymous SNV E870K 0 0 0 0 0 0 0 0 0 0 0 0 27.3 3984 chr11 10503756 10503756 G A rs16907852 AMPD3 Synonymous SNV P32P 0.094 0.115 0.102 37 110 44 0.095 30 9 2 0 1 Benign 8.404 3985 chr11 111941959 111941959 G A rs1425917 PIH1D2 Nonsynonymous SNV A117V 0.136 0.107 0.105 56 160 41 0.144 31 12 0 2 6 14.22 3986 chr11 125707761 125707761 A C rs11220236 PATE4 0.483 0.518 0.466 204 567 199 0.523 137 134 54 33 57 13.53 3987 chr1 118693217 118693217 T C rs1935992 SPAG17 Synonymous SNV S88S 0.231 0.247 0.269 102 271 95 0.262 79 35 12 17 15 1.471 3988 chr11 1051734 1051734 C T rs150004945 LINC02688 0.012 0.018 0 8 14 7 0.021 0 0 0 0 0 0.382 3989 chr11 125763746 125763746 C G rs3088241 PUS3 Nonsynonymous SNV E252D 0.405 0.44 0.401 171 475 169 0.438 118 96 38 22 40 7.612 3990 chr1 120057246 120057246 C A rs1047303 HSD3B1 Nonsynonymous SNV T367N 0.609 0.607 0.646 239 715 233 0.613 190 209 70 58 74 0.003 3991 chr11 111963860 111963860 A G rs592626 SDHD Nonsynonymous SNV Q124R 0.946 0.932 0 372 1111 358 0.954 0 555 179 0 185 0.498 3992 chr11 125766044 125766044 C A rs549990 PUS3 Nonsynonymous SNV A46S 0.638 0.661 0.639 261 749 254 0.669 188 241 84 56 83 0.007 3993 chr11 107375933 107375933 T C ALKBH8 Synonymous SNV R485R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.98 3994 chr1 120165826 120165826 C T rs12076924 ZNF697 Synonymous SNV P380P 0.514 0.539 0.537 213 603 207 0.546 158 160 55 42 61 8.408 3995 chr11 125766173 125766173 A C rs622756 PUS3 Nonsynonymous SNV Y3D 0.837 0.839 0.813 338 983 322 0.867 239 417 133 99 148 0.039 3996 chr1 114196495 114196495 A G rs2359173 MAGI3 Synonymous SNV T828T 0.317 0.336 0.337 128 372 129 0.328 99 50 15 21 17 4.579 3997 chr11 112040027 112040027 A G rs360712 TEX12 Synonymous SNV R12R 0.227 0.201 0.248 102 266 77 0.262 73 27 9 6 14 0.012 3998 chr1 120166453 120166453 G C rs76236163 ZNF697 Synonymous SNV A171A 0.106 0.112 0.102 45 125 43 0.115 30 8 2 1 1 0.123 3999 chr1 114255975 114255975 G T rs61730007 PHTF1 Nonsynonymous SNV Q237K 0.003 0.005 0.01 5 4 2 0.013 3 0 0 0 0 11.86 4000 chr1 120285546 120285546 G A rs543703 PHGDH Synonymous SNV T442T 0.777 0.784 0.786 298 912 301 0.764 231 350 120 90 117 Benign 10.55 4001 chr11 125769354 125769354 T C rs667782 HYLS1 Nonsynonymous SNV C31R 0.212 0.214 0.197 75 249 82 0.192 58 26 8 9 4 Benign 24.4 4002 chr1 120378678 120378678 C T rs3009182 NBPF7 Synonymous SNV Q356Q 0.806 0.846 0.816 321 946 325 0.823 240 377 137 98 130 5.635 4003 chr11 1094680 1094680 G T rs41359254 MUC2 Nonsynonymous SNV G1923V 0.011 0.016 0.007 7 13 6 0.018 2 0 0 0 0 0.69 4004 chr11 125788678 125788678 T C rs683155 DDX25 Synonymous SNV C284C 0.572 0.604 0.605 248 671 232 0.636 178 183 73 53 78 0.007 4005 chr1 144916748 144916748 C G rs1747930 PDE4DIP Nonsynonymous SNV S699T 0.499 0.5 0.497 195 586 192 0.5 146 0 0 0 0 24.7 4006 chr11 108043888 108043888 A G rs35095430 NPAT Nonsynonymous SNV V608A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 4007 chr11 1258175 1258175 C T rs80092233 MUC5B Synonymous SNV C1026C 0.497 0.495 0.371 190 583 190 0.487 109 0 0 0 0 16.88 4008 chr11 102649954 102649954 A G rs17860950 MMP10 Synonymous SNV F162F 0.098 0.109 0.041 41 115 42 0.105 12 4 3 1 2 0.233 4009 chr11 1258192 1258192 A T rs76589014 MUC5B Nonsynonymous SNV N1032I 0.5 0.5 0.456 195 587 192 0.5 134 0 0 0 0 7.347 4010 chr11 106849400 106849400 G A rs35760785 GUCY1A2 Synonymous SNV N144N 0.074 0.076 0.031 15 87 29 0.038 9 3 1 0 0 5.209 4011 chr1 144917546 144917546 A G rs1698682 PDE4DIP Synonymous SNV L683L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 12.68 4012 chr1 114438927 114438927 G T rs149272848 AP4B1 Nonsynonymous SNV P320H 0.003 0.01 0 4 3 4 0.01 0 0 0 0 0 27.6 4013 chr1 144922583 144922583 G A rs1359300 PDE4DIP Nonsynonymous SNV S438L 0.5 0.5 0.493 195 587 192 0.5 145 0 0 0 0 23 4014 chr11 1018255 1018255 A T rs796468877 MUC6 Nonsynonymous SNV F1516I 0.02 0.018 0 4 24 7 0.01 0 0 0 0 0 5.27 4015 chr11 1258193 1258193 T C rs74904842 MUC5B Synonymous SNV N1032N 0.5 0.5 0.449 195 587 192 0.5 132 0 0 0 0 0.003 4016 chr11 110124760 110124760 T C RDX Synonymous SNV L154L 0.014 0.018 0 10 16 7 0.026 0 0 0 0 0 8.231 4017 chr1 114438951 114438951 A G rs1217401 AP4B1 Nonsynonymous SNV L312S 0.315 0.271 0.289 108 370 104 0.277 85 55 18 13 14 Benign 21.4 4018 chr11 108106443 108106443 T A rs2234997 ATM Nonsynonymous SNV D126E 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign/Likely benign 4.635 4019 chr11 1258197 1258197 A G rs78674028 MUC5B Nonsynonymous SNV I1034V 0.5 0.5 0.463 195 587 192 0.5 136 0 0 0 0 0.002 4020 chr1 144930596 144930596 C A rs2762867 PDE4DIP Synonymous SNV P371P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 12.77 4021 chr11 1103313 1103313 T G rs41386948 MUC2 Nonsynonymous SNV I2688S 0.017 0.021 0.01 9 20 8 0.023 3 0 0 0 0 12.59 4022 chr1 144930940 144930940 T C rs2147326 PDE4DIP Nonsynonymous SNV K257E 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.504 4023 chr11 1258199 1258199 C T rs80200632 MUC5B Synonymous SNV I1034I 0.5 0.5 0.463 195 587 192 0.5 136 0 0 0 0 6.481 4024 chr11 108114840 108114840 T C rs2235003 ATM Synonymous SNV C219C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.007 4025 chr11 1258217 1258217 T G rs74648489 MUC5B Synonymous SNV R1040R 0.5 0.5 0.48 195 587 192 0.5 141 0 0 0 0 0.02 4026 chr11 111225028 111225028 G A rs11213848 POU2AF1 Synonymous SNV D243D 0.034 0.036 0.037 20 40 14 0.051 11 0 0 0 0 7.138 4027 chr11 108175462 108175462 G A rs1801516 ATM Nonsynonymous SNV D1853N 0.113 0.133 0.156 44 133 51 0.113 46 7 2 5 1 Benign 23.2 4028 chr1 144931087 144931087 T C rs41315684 PDE4DIP Nonsynonymous SNV T208A 0.279 0.253 0.296 106 328 97 0.272 87 0 0 0 0 Benign 12.15 4029 chr11 1258226 1258226 C T rs55700357 MUC5B Synonymous SNV S1043S 0.5 0.5 0.483 195 587 192 0.5 142 0 0 0 0 11.08 4030 chr11 1018275 1018275 G A rs200995469 MUC6 Nonsynonymous SNV T1509I 0.02 0.021 0.007 3 24 8 0.008 2 0 0 0 0 2.621 4031 chr11 1258240 1258240 C T rs77287508 MUC5B Nonsynonymous SNV A1048V 0.5 0.5 0.486 195 587 192 0.5 143 0 0 0 0 0.559 4032 chr1 144931330 144931330 C T rs2762745 PDE4DIP Nonsynonymous SNV A127T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 13.76 4033 chr11 1258241 1258241 A G rs79773885 MUC5B Synonymous SNV A1048A 0.5 0.5 0.49 195 587 192 0.5 144 0 0 0 0 0.002 4034 chr1 144931392 144931392 G A rs2798893 PDE4DIP Nonsynonymous SNV A106V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.816 4035 chr11 108380739 108380739 C T rs750384834 EXPH5 Nonsynonymous SNV R1644Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.028 4036 chr11 1258283 1258283 G A rs78669250 MUC5B Synonymous SNV P1062P 0.5 0.5 0.486 195 587 192 0.5 143 0 0 0 0 Benign 2.647 4037 chr1 114973429 114973429 T C rs12083584 TRIM33 Synonymous SNV Q382Q 0.377 0.406 0.289 143 443 156 0.367 85 89 33 16 31 0.603 4038 chr11 1018289 1018289 C T rs77222781 MUC6 Synonymous SNV P1504P 0.023 0.023 0.007 5 27 9 0.013 2 0 0 0 0 7.135 4039 chr11 1258286 1258286 C T rs77996005 MUC5B Synonymous SNV D1063D 0.5 0.5 0.486 195 587 192 0.5 143 0 0 0 0 Benign 9.636 4040 chr1 144931461 144931461 A T rs41315685 PDE4DIP Nonsynonymous SNV L83Q 0.296 0.266 0.303 108 348 102 0.277 89 0 0 0 0 Benign 13.9 4041 chr1 115168600 115168600 A T rs7541738 DENND2C Nonsynonymous SNV D2E 0.285 0.281 0.241 125 335 108 0.321 71 38 17 10 18 12.63 4042 chr11 1258295 1258295 A G rs79118814 MUC5B Synonymous SNV A1066A 0.5 0.5 0.486 195 587 192 0.5 143 0 0 0 0 Likely benign 0.04 4043 chr11 125830970 125830970 A T rs684535 CDON Nonsynonymous SNV I1244N 0.701 0.677 0.677 268 823 260 0.687 199 289 86 69 95 Benign 1.592 4044 chr1 144994658 144994658 C A rs1664022 PDE4DIP Nonsynonymous SNV R25L 0.499 0.497 0.497 195 586 191 0.5 146 0 0 0 0 35 4045 chr11 10874594 10874594 A G rs2232928 ZBED5 Synonymous SNV R633R 0.057 0.06 0.037 18 67 23 0.046 11 2 1 0 0 0.006 4046 chr11 10876353 10876353 T C rs2232919 ZBED5 Nonsynonymous SNV Q47R 0.06 0.063 0.037 18 70 24 0.046 11 2 1 0 0 6.857 4047 chr11 125831701 125831701 G A rs2276061 CDON Synonymous SNV V1183V 0.3 0.294 0.248 146 352 113 0.374 73 59 17 8 31 Benign 4.314 4048 chr1 145015877 145015877 G T rs77741369 PDE4DIP Nonsynonymous SNV L71I 0.177 0.177 0.163 79 208 68 0.203 48 0 0 0 0 23.4 4049 chr11 1086001 1086001 G A rs750762831 MUC2 Synonymous SNV V947V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.354 4050 chr11 108788634 108788634 - TGATGA rs373041499 DDX10 D788_G789insDD 0.006 0.005 0.01 0 7 2 0 3 0 0 1 0 4051 chr11 125848261 125848261 C T rs3740904 CDON Synonymous SNV T1098T 0.368 0.354 0.361 180 432 136 0.462 106 81 29 21 45 Benign 18.33 4052 chr1 145039633 145039633 C T rs2762750 LOC100996724 0.089 0.078 0.18 48 105 30 0.123 53 0 0 0 0 11.21 4053 chr11 10876443 10876443 G A rs2232918 ZBED5 Nonsynonymous SNV A17V 0.057 0.06 0.037 18 67 23 0.046 11 2 1 0 0 4.913 4054 chr11 1260145 1260145 T C rs75799984 MUC5B Synonymous SNV C1114C 0.385 0.411 0.061 149 452 158 0.382 18 0 0 0 0 0.06 4055 chr11 1260157 1260157 G C rs78678736 MUC5B Synonymous SNV S1118S 0.408 0.432 0.129 168 479 166 0.431 38 0 0 0 0 8.934 4056 chr1 116243877 116243877 G A rs7413162 CASQ2 Synonymous SNV D395D 0.427 0.432 0.364 182 501 166 0.467 107 108 38 19 42 Benign/Likely benign 6.411 4057 chr11 1018312 1018312 G A rs796958041 MUC6 Nonsynonymous SNV H1497Y 0.017 0.016 0.007 3 20 6 0.008 2 0 0 0 0 1.495 4058 chr11 1260160 1260160 T G rs78177850 MUC5B Synonymous SNV G1119G 0.408 0.435 0.133 168 479 167 0.431 39 0 0 0 0 4.148 4059 chr1 145075854 145075854 G C rs1663853 PDE4DIP Synonymous SNV G3G 0.489 0.492 0.5 194 574 189 0.497 147 0 0 0 0 9.95 4060 chr11 1260163 1260163 C T rs79220674 MUC5B Synonymous SNV G1120G 0.408 0.432 0.133 168 479 166 0.431 39 0 0 0 0 13.2 4061 chr1 145532549 145532549 T C rs1328584 ITGA10 Synonymous SNV F191F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.107 4062 chr11 1260175 1260175 T C rs75760167 MUC5B Synonymous SNV C1124C 0.394 0.424 0.037 162 462 163 0.415 11 0 0 0 0 0.028 4063 chr1 116605423 116605423 C T rs3748743 SLC22A15 Synonymous SNV S404S 0.025 0.029 0.031 16 29 11 0.041 9 0 0 0 0 9.294 4064 chr11 1260193 1260193 T C rs74763753 MUC5B Synonymous SNV A1130A 0.391 0.419 0.027 161 459 161 0.413 8 0 0 0 0 6.496 4065 chr1 145533175 145533175 T C rs11590105 ITGA10 Synonymous SNV L281L 0.266 0.286 0.201 103 312 110 0.264 59 41 11 8 13 0.081 4066 chr11 1095249 1095249 G A rs1048126206 MUC2 Synonymous SNV T2023T 0.003 0.016 0 1 3 6 0.003 0 0 0 0 0 8.808 4067 chr11 1260214 1260214 C T rs79585387 MUC5B Synonymous SNV H1137H 0.407 0.432 0.014 168 478 166 0.431 4 0 0 0 0 8.544 4068 chr1 116670774 116670774 A G rs10754431 MAB21L3 Synonymous SNV G223G 0.226 0.271 0.207 100 265 104 0.256 61 36 14 10 8 2.638 4069 chr11 1260217 1260217 C A rs79638064 MUC5B Nonsynonymous SNV D1138E 0.41 0.432 0.014 168 481 166 0.431 4 0 0 0 0 5.916 4070 chr1 145561594 145561594 C T rs6670984 ANKRD35 Nonsynonymous SNV P338S 0.503 0.461 0.527 207 590 177 0.531 155 144 42 38 55 0.445 4071 chr1 116935633 116935633 G A rs144906663 ATP1A1-AS1 0.011 0.01 0 7 13 4 0.018 0 0 0 0 0 2.827 4072 chr11 1260219 1260219 C T rs75935363 MUC5B Nonsynonymous SNV A1139V 0.41 0.432 0.014 167 481 166 0.428 4 0 0 0 0 10.62 4073 chr1 145562881 145562881 T C rs10910824 ANKRD35 Synonymous SNV L767L 0.529 0.487 0.541 218 621 187 0.559 159 163 49 45 63 0.656 4074 chr11 113570852 113570852 C T rs3802854 TMPRSS5 Synonymous SNV Q14Q 0.29 0.255 0.252 110 340 98 0.282 74 52 9 15 13 Benign 9.826 4075 chr1 146672906 146672906 C T rs894469 FMO5 Synonymous SNV P337P 0.913 0.909 0.925 349 1072 349 0.895 272 492 159 126 158 12.69 4076 chr11 1260220 1260220 G A rs61733358 MUC5B Synonymous SNV A1139A 0.41 0.432 0.017 168 481 166 0.431 5 0 0 0 0 7.382 4077 chr11 110104091 110104091 A C RDX Nonsynonymous SNV H139Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 4078 chr11 126176578 126176578 G A rs637462 DCPS Synonymous SNV Q112Q 0.8 0.807 0.799 315 939 310 0.808 235 372 121 95 128 7.984 4079 chr1 146714392 146714392 G C rs1890042 CHD1L Synonymous SNV A13A 0.528 0.557 0.456 215 620 214 0.551 134 238 87 58 86 9.117 4080 chr11 113607367 113607367 C G rs200677897 ZW10 Nonsynonymous SNV A732P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 4081 chr11 126212022 126212022 G A rs75757016 GSEC 0 0 0.048 0 0 0 0 14 0 0 2 0 7.113 4082 chr11 126277216 126277216 C T rs2230278 ST3GAL4 Synonymous SNV Y83Y 0.308 0.32 0.316 118 362 123 0.303 93 53 23 16 17 Benign 11.88 4083 chr1 146751782 146751782 A C rs7547279 CHD1L Synonymous SNV I337I 0.968 0.951 0.983 374 1136 365 0.959 289 550 174 142 179 4.309 4084 chr1 146767149 146767149 G T rs4950394 CHD1L Nonsynonymous SNV A681S 0.971 0.958 0.963 374 1140 368 0.959 283 554 177 140 179 0.022 4085 chr11 126278075 126278075 C T rs2230279 ST3GAL4 Synonymous SNV Y140Y 0.306 0.307 0.313 119 359 118 0.305 92 53 20 16 16 Benign 7.368 4086 chr11 1262907 1262907 T C rs2037089 MUC5B Synonymous SNV S1599S 0.203 0.198 0.177 90 238 76 0.231 52 23 10 6 9 Benign 0.047 4087 chr1 147119273 147119273 G A rs1344 ACP6 Synonymous SNV H413H 0.537 0.576 0.554 214 630 221 0.549 163 165 59 48 60 5.499 4088 chr11 126294817 126294817 G A rs948052 KIRREL3 Synonymous SNV G653G 0.664 0.659 0.701 261 779 253 0.669 206 262 87 73 84 Likely benign 8.78 4089 chr1 147121977 147121977 C T rs6593795 ACP6 Nonsynonymous SNV V316M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.716 4090 chr11 1263234 1263234 A G rs56117556 MUC5B Synonymous SNV T1708T 0.049 0.052 0.034 20 58 20 0.051 10 5 1 0 0 0.045 4091 chr11 112064323 112064323 T C rs145002872 BCO2 Synonymous SNV I35I 0.018 0.023 0 11 21 9 0.028 0 0 0 0 0 6.065 4092 chr11 126391297 126391297 T G rs12269776 KIRREL3 Synonymous SNV R116R 0.2 0.219 0.279 88 235 84 0.226 82 25 13 11 12 Likely benign 5.913 4093 chr1 117529471 117529471 C T rs201017438 PTGFRN Nonsynonymous SNV T841M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.2 4094 chr11 126873592 126873592 C T rs494442 KIRREL3-AS3 0 0 0.391 0 0 0 0 115 0 0 25 0 10.1 4095 chr1 147124310 147124310 T G rs2153463 ACP6 Synonymous SNV R275R 0.685 0.716 0.697 270 804 275 0.692 205 272 97 74 92 0.403 4096 chr11 126873721 126873721 - C rs11377295 KIRREL3-AS3 0 0 0.997 0 0 0 0 293 0 0 146 0 4097 chr1 149906413 149906413 T C rs11205303 MTMR11 Nonsynonymous SNV M87V 0.43 0.38 0.425 151 505 146 0.387 125 107 26 21 28 3.155 4098 chr11 126968477 126968477 C T rs10893631 LOC101929473 0 0 0.323 0 0 0 0 95 0 0 15 0 6.86 4099 chr11 1272226 1272226 A C rs2943512 MUC5B Nonsynonymous SNV T4706P 0.486 0.469 0.493 180 571 180 0.462 145 139 41 40 44 Benign 0.002 4100 chr1 150483355 150483355 C T rs3737240 ECM1 Nonsynonymous SNV T157M 0.408 0.38 0.452 159 479 146 0.408 133 110 27 28 36 0.135 4101 chr11 1272793 1272793 C T rs56159668 MUC5B Nonsynonymous SNV P4895S 0.02 0.023 0.014 9 24 9 0.023 4 0 0 0 0 0.148 4102 chr11 108381247 108381247 C T rs2640779 EXPH5 Nonsynonymous SNV G1475R 0.198 0.201 0.19 72 233 77 0.185 56 24 12 5 6 22.8 4103 chr1 150484987 150484987 G A rs13294 ECM1 Nonsynonymous SNV G290S 0.411 0.396 0.466 163 483 152 0.418 137 111 29 30 39 9.411 4104 chr11 112085632 112085632 C G rs140943596 BCO2 Nonsynonymous SNV L421V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 4105 chr11 1272800 1272800 C T rs55693520 MUC5B Nonsynonymous SNV S4897L 0.056 0.055 0.034 23 66 21 0.059 10 7 1 0 0 11.33 4106 chr11 108384207 108384207 C T rs2846412 EXPH5 Nonsynonymous SNV S488N 0.393 0.378 0.384 154 461 145 0.395 113 86 30 20 29 0.002 4107 chr1 150531008 150531008 T C rs10888382 ADAMTSL4 Synonymous SNV N814N 0.943 0.927 0.905 366 1107 356 0.938 266 520 166 122 171 Benign 0.074 4108 chr11 1272858 1272858 C T rs4963059 MUC5B Synonymous SNV F4916F 0.295 0.279 0.327 95 346 107 0.244 96 54 14 14 12 Benign 3.115 4109 chr1 150531050 150531050 G A rs10749657 ADAMTSL4 Synonymous SNV P828P 0.789 0.813 0.748 281 926 312 0.721 220 367 131 79 98 Benign 12.62 4110 chr11 112084583 112084583 C T rs146858215 BCO2 Nonsynonymous SNV T371M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.3 4111 chr11 108409784 108409784 T A rs2640785 EXPH5 Nonsynonymous SNV E61V 0.135 0.135 0.126 44 159 52 0.113 37 11 2 3 2 29 4112 chr11 1280238 1280238 G A rs55856616 MUC5B Nonsynonymous SNV D5554N 0.049 0.052 0.034 20 58 20 0.051 10 5 1 0 0 Benign 12.03 4113 chr1 150531170 150531170 C T rs10749658 ADAMTSL4 Synonymous SNV H868H 0.997 0.995 0.986 389 1170 382 0.997 290 583 190 144 194 Benign 8.247 4114 chr11 114270939 114270939 C T rs375198468 C11orf71 Nonsynonymous SNV D39N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 4115 chr11 112104245 112104245 T C rs59731976 PTS Synonymous SNV T135T 0.023 0.021 0.01 7 27 8 0.018 3 0 1 0 0 Benign 6.868 4116 chr1 150532376 150532376 G A rs56411234 ADAMTSL4 Nonsynonymous SNV R1028H 0.011 0.021 0.003 7 13 8 0.018 1 0 0 0 0 Benign 22.9 4117 chr11 114393652 114393652 C T rs10891692 NXPE1 Nonsynonymous SNV G211R 0.332 0.328 0.327 139 390 126 0.356 96 70 25 12 23 34 4118 chr11 1281932 1281932 C T rs61734215 MUC5B Synonymous SNV C5681C 0.022 0.034 0.014 10 26 13 0.026 4 0 0 0 0 Benign 16.36 4119 chr1 118482149 118482149 C T rs34973445 WDR3 Nonsynonymous SNV A210V 0.055 0.073 0.088 25 64 28 0.064 26 1 0 0 2 23.3 4120 chr11 128781339 128781339 T C rs6590357 KCNJ5 Synonymous SNV S57S 0.89 0.904 0.867 329 1045 347 0.844 255 466 159 111 137 Benign 0.438 4121 chr1 150551327 150551327 G A rs11580946 MCL1 Nonsynonymous SNV A227V 0.016 0.016 0.007 3 19 6 0.008 2 0 0 0 0 23 4122 chr11 114401247 114401247 A G rs7941796 NXPE1 Synonymous SNV N19N 0.141 0.143 0.204 62 165 55 0.159 60 14 4 5 3 0.014 4123 chr11 128781978 128781978 T G rs7118824 KCNJ5 Synonymous SNV L270L 0.889 0.904 0.867 329 1044 347 0.844 255 465 159 111 137 Benign 1.221 4124 chr11 114401283 114401283 C T rs7941923 NXPE1 Synonymous SNV T7T 0.14 0.143 0.204 62 164 55 0.159 60 14 4 5 3 11.96 4125 chr11 128782002 128782002 T C rs7118833 KCNJ5 Synonymous SNV H278H 0.889 0.904 0.867 329 1044 347 0.844 255 465 159 111 137 Benign 0.07 4126 chr11 112131255 112131255 G C rs116883740 PLET1 Nonsynonymous SNV L20V 0.019 0.026 0.027 8 22 10 0.021 8 0 0 0 0 18.95 4127 chr1 150679033 150679033 G A rs1336900 HORMAD1 Nonsynonymous SNV T260I 0.431 0.438 0.391 184 506 168 0.472 115 108 31 28 44 0.231 4128 chr11 114401404 114401404 C T rs758771460 NXPE1 Nonsynonymous SNV R109Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.705 4129 chr11 128782012 128782012 C G rs7102584 KCNJ5 Nonsynonymous SNV Q282E 0.988 0.987 0.99 386 1160 379 0.99 291 574 187 144 191 Benign 4.219 4130 chr1 119584949 119584949 G A rs33960696 WARS2 Synonymous SNV H151H 0.08 0.076 0.095 36 94 29 0.092 28 2 3 0 2 4.295 4131 chr11 1093569 1093569 - CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC MUC2 Stop gain T1797Lfs*3 0.017 0.01 0.003 5 20 4 0.013 1 0 0 0 0 4132 chr1 119923724 119923724 T C rs2275607 HAO2 Synonymous SNV L6L 0.474 0.427 0.425 169 557 164 0.433 125 130 34 22 42 0.019 4133 chr11 114401577 114401577 T C rs524911 NXPE1 Synonymous SNV A51A 0.333 0.331 0.327 140 391 127 0.359 96 69 25 12 23 1.762 4134 chr11 128805548 128805548 G A rs11601431 TP53AIP1 Nonsynonymous SNV P101S 0.16 0.185 0.194 70 188 71 0.179 57 13 5 5 7 0.213 4135 chr1 150727539 150727539 G A rs2230061 CTSS Nonsynonymous SNV R113W 0.41 0.422 0.415 173 481 162 0.444 122 101 28 26 37 23 4136 chr11 114401611 114401611 A G rs7944960 NXPE1 Nonsynonymous SNV L40S 0.14 0.143 0.204 62 164 55 0.159 60 14 4 5 3 2.819 4137 chr11 113101958 113101958 G A rs117219783 NCAM1 Nonsynonymous SNV G377E 0.014 0.026 0.007 3 16 10 0.008 2 0 0 0 0 6.312 4138 chr1 120166681 120166681 G A rs12067843 ZNF697 Synonymous SNV S95S 0.428 0.451 0.442 175 503 173 0.449 130 115 38 27 41 0.59 4139 chr11 128805557 128805557 T C rs56235610 TP53AIP1 Nonsynonymous SNV R98G 0.165 0.195 0.197 70 194 75 0.179 58 13 6 6 7 0.214 4140 chr1 150771703 150771703 T C rs10788796 CTSK Synonymous SNV A277A 0.997 0.992 0.986 389 1171 381 0.997 290 584 189 143 194 6.555 4141 chr11 128839156 128839156 T C rs3740829 ARHGAP32 Synonymous SNV E1621E 0.083 0.078 0.075 26 97 30 0.067 22 7 0 1 0 0.004 4142 chr1 150808889 150808889 C G rs2228099 ARNT Synonymous SNV V174V 0.431 0.427 0.452 181 506 164 0.464 133 115 30 32 39 12.27 4143 chr11 128839526 128839526 C G rs60847789 ARHGAP32 Nonsynonymous SNV S1498T 0.09 0.091 0.078 26 106 35 0.067 23 9 0 1 0 4.647 4144 chr1 150958836 150958836 A G rs267733 ANXA9 Nonsynonymous SNV D166G 0.117 0.125 0.177 45 137 48 0.115 52 6 3 3 3 25.2 4145 chr1 120378657 120378657 G A rs6684816 NBPF7 Synonymous SNV S363S 0.022 0.016 0.017 12 26 6 0.031 5 0 0 0 0 Benign 4.109 4146 chr11 128868239 128868239 T C rs670440 ARHGAP32 Synonymous SNV E27E 0.669 0.711 0.663 264 785 273 0.677 195 258 97 64 86 1.412 4147 chr11 129722553 129722553 C T rs558813 TMEM45B Nonsynonymous SNV T59I 0.129 0.182 0.133 60 152 70 0.154 39 11 0 3 5 0.004 4148 chr1 150970577 150970577 G T rs2925741 MINDY1 Nonsynonymous SNV T243K 0.999 0.997 0.993 389 1173 383 0.997 292 586 191 145 194 14.47 4149 chr1 120436918 120436918 G A rs115551394 ADAM30 Nonsynonymous SNV A681V 0.018 0.008 0.003 6 21 3 0.015 1 0 0 0 0 0.008 4150 chr11 129754644 129754644 A G rs1131972 NFRKB Synonymous SNV T271T 0.704 0.758 0.755 285 826 291 0.731 222 292 105 85 103 0.088 4151 chr11 11348669 11348669 G A rs17435705 GALNT18 Synonymous SNV V430V 0.103 0.065 0.105 36 121 25 0.092 31 7 0 2 0 11.47 4152 chr11 111635619 111635619 A G rs61757743 PPP2R1B Synonymous SNV Y72Y 0.014 0.018 0.014 9 17 7 0.023 4 0 0 0 0 2.025 4153 chr1 120437718 120437718 G A rs2793823 ADAM30 Synonymous SNV D414D 0.153 0.128 0.102 68 180 49 0.174 30 14 5 1 6 2.09 4154 chr1 150975108 150975108 T C rs771205 MINDY1 Nonsynonymous SNV K44E 0.951 0.956 0.942 382 1116 367 0.979 277 530 175 131 187 0.008 4155 chr11 129794950 129794950 T C rs2241571 PRDM10 Nonsynonymous SNV T483A 0.4 0.422 0.446 168 470 162 0.431 131 97 32 27 36 2.362 4156 chr11 114441936 114441936 A G rs12421748 NXPE4 Synonymous SNV N453N 0.129 0.141 0.194 61 151 54 0.156 57 13 4 4 3 0.423 4157 chr1 120479908 120479908 G A rs115325955 NOTCH2 Synonymous SNV C1173C 0.018 0.008 0.003 6 21 3 0.015 1 0 0 0 0 Benign 12.06 4158 chr11 114441943 114441943 G A rs10891705 NXPE4 Nonsynonymous SNV A451V 0.325 0.326 0.327 133 382 125 0.341 96 66 25 12 21 14.25 4159 chr1 144916676 144916676 C T rs1698683 PDE4DIP Stop gain W723X 0.309 0.323 0.32 125 363 124 0.321 94 0 0 0 0 40 4160 chr1 150999737 150999737 A G rs11204762 PRUNE1 Synonymous SNV K35K 0.204 0.208 0.146 66 239 80 0.169 43 22 6 3 2 7.998 4161 chr11 129801043 129801043 C T rs2277033 PRDM10 Synonymous SNV Q380Q 0.455 0.474 0.52 180 534 182 0.462 153 129 42 39 41 8.117 4162 chr11 129802018 129802018 T C rs78152490 PRDM10 Synonymous SNV E336E 0.027 0.036 0.041 9 32 14 0.023 12 0 0 0 0 4.121 4163 chr1 151006539 151006539 C A rs3738476 PRUNE1 Synonymous SNV G196G 0.837 0.88 0.874 336 983 338 0.862 257 413 146 112 142 15.4 4164 chr11 114442103 114442103 A G rs550897 NXPE4 Nonsynonymous SNV Y398H 0.47 0.471 0.534 197 552 181 0.505 157 138 40 45 49 6.848 4165 chr11 129817221 129817221 A G rs59265937 PRDM10 Synonymous SNV S27S 0.026 0.036 0.034 8 31 14 0.021 10 0 0 0 0 5.001 4166 chr11 111747588 111747588 G A rs149256640 FDXACB1 Synonymous SNV S159S 0.009 0.01 0 3 11 4 0.008 0 0 0 0 0 3.912 4167 chr1 151105824 151105824 C G rs4971006 SEMA6C Synonymous SNV P635P 0.801 0.836 0.793 320 940 321 0.821 233 402 140 100 132 14.55 4168 chr11 129830796 129830796 C T rs11221912 PRDM10 Nonsynonymous SNV A22T 0.075 0.094 0.105 23 88 36 0.059 31 3 0 3 2 10.93 4169 chr1 151108137 151108137 T G rs4971007 SEMA6C Nonsynonymous SNV T415P 0.842 0.867 0.854 327 989 333 0.838 251 422 143 107 135 17.17 4170 chr1 144922523 144922523 C T rs2455994 PDE4DIP Nonsynonymous SNV R458H 0.298 0.302 0.303 114 350 116 0.292 89 0 0 0 0 Benign 25.4 4171 chr11 130066335 130066335 C T rs476106 ST14 Synonymous SNV N405N 0.665 0.659 0.602 269 781 253 0.69 177 262 86 60 93 Benign 14.44 4172 chr11 114576626 114576626 A T rs1356428 NXPE2 Nonsynonymous SNV N351I 0.342 0.289 0.323 137 402 111 0.351 95 73 20 17 25 5.457 4173 chr11 130281488 130281488 G A rs2131535 ADAMTS8 Nonsynonymous SNV A525V 0.773 0.81 0.765 273 908 311 0.7 225 345 127 87 91 14.15 4174 chr1 151209063 151209063 C T rs12407426 PIP5K1A Synonymous SNV Y311Y 0.71 0.708 0.687 275 834 272 0.705 202 299 93 70 99 8.85 4175 chr1 151239051 151239051 T C rs7489 PSMD4 Synonymous SNV S320S 0.715 0.714 0.69 276 839 274 0.708 203 301 94 71 100 0.016 4176 chr11 115085467 115085467 A C rs45525440 CADM1 Nonsynonymous SNV D285E 0.048 0.047 0.054 16 56 18 0.041 16 2 0 0 2 8.62 4177 chr11 130297948 130297948 C G rs7927048 ADAMTS8 Nonsynonymous SNV E78D 0.588 0.565 0.626 219 690 217 0.562 184 210 69 61 60 12.53 4178 chr11 113698002 113698002 C T rs17802314 USP28 Synonymous SNV E47E 0.13 0.125 0.15 50 153 48 0.128 44 7 2 4 4 13.96 4179 chr1 151263677 151263677 - ACA rs145032688 ZNF687 *1238delinsN* 0.049 0.047 0.027 17 57 18 0.044 8 2 1 0 0 4180 chr11 130297957 130297957 T C rs7942034 ADAMTS8 Synonymous SNV L75L 0.876 0.878 0.891 318 1028 337 0.815 262 453 150 118 129 12.49 4181 chr1 151288172 151288172 G A rs1056847 PI4KB Synonymous SNV D262D 0.645 0.617 0.629 246 757 237 0.631 185 242 70 59 80 2.234 4182 chr11 130298118 130298120 GCA - rs10548872 ADAMTS8 L21del 0.216 0.195 0.347 88 254 75 0.226 102 112 33 41 37 4183 chr11 116633862 116633862 G A rs11820589 BUD13 Nonsynonymous SNV P148L 0.078 0.081 0.092 34 92 31 0.087 27 0 0 0 1 18.64 4184 chr1 151288391 151288391 A G rs1752379 PI4KB Synonymous SNV D189D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.082 4185 chr11 13031958 13031958 G A rs200988951 RASSF10 Nonsynonymous SNV V279I 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 11.77 4186 chr1 151316161 151316161 G A rs1752386 RFX5 Synonymous SNV L251L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 9.808 4187 chr11 130332402 130332402 C G rs772063310 ADAMTS15 Synonymous SNV L423L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 4188 chr11 130339312 130339312 T C rs731446 ADAMTS15 Synonymous SNV N566N 0.612 0.586 0.575 249 718 225 0.638 169 222 70 58 79 6.041 4189 chr11 116655600 116655600 G A rs35120633 ZPR1 Nonsynonymous SNV A210V 0.072 0.078 0.085 31 84 30 0.079 25 0 0 0 1 21.9 4190 chr1 151372138 151372138 G A rs7172 PSMB4 Synonymous SNV P25P 0.782 0.818 0.789 305 918 314 0.782 232 360 132 90 118 9.192 4191 chr11 113565238 113565238 C T rs61995944 TMPRSS5 Synonymous SNV A205A 0.014 0.023 0.01 3 16 9 0.008 3 0 0 0 0 Benign 10.98 4192 chr11 130750642 130750642 A C rs2298566 SNX19 Nonsynonymous SNV L218R 0.722 0.727 0.735 287 848 279 0.736 216 306 101 82 101 6.024 4193 chr11 108119823 108119823 T C rs56128736 ATM Nonsynonymous SNV V410A 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 4194 chr1 151374025 151374025 T C rs4603 PSMB4 Nonsynonymous SNV I234T 0.204 0.174 0.19 82 240 67 0.21 56 23 9 1 8 23.7 4195 chr11 116661488 116661488 C T rs3135507 APOA5 Nonsynonymous SNV V153M 0.032 0.044 0.051 17 38 17 0.044 15 1 0 0 1 Benign 13.66 4196 chr11 130776524 130776524 T C rs4414223 SNX19 Nonsynonymous SNV N93S 0.607 0.628 0.599 248 713 241 0.636 176 253 80 66 82 0.009 4197 chr11 105842740 105842740 G A rs61736488 GRIA4 Synonymous SNV K798K 0.091 0.081 0.068 38 107 31 0.097 20 2 0 0 4 9.398 4198 chr1 151733335 151733335 T G rs8480 MRPL9 Nonsynonymous SNV E176A 0.395 0.388 0.48 170 464 149 0.436 141 154 50 36 56 24.2 4199 chr11 116662331 116662331 G T rs12287066 APOA5 Synonymous SNV I44I 0.078 0.078 0.082 32 91 30 0.082 24 1 0 0 1 Benign 3.798 4200 chr11 130776556 130776556 T C rs61909161 SNX19 Synonymous SNV Q82Q 0.049 0.055 0.058 24 57 21 0.062 17 2 1 1 1 0.005 4201 chr11 116662407 116662407 G C rs3135506 APOA5 Nonsynonymous SNV S19W 0.073 0.078 0.085 31 86 30 0.079 25 0 0 0 1 risk factor 25.2 4202 chr11 130776613 130776613 A G rs4373936 SNX19 Synonymous SNV S63S 0.647 0.648 0.667 259 760 249 0.664 196 253 80 67 81 10.14 4203 chr1 151747970 151747970 A G rs11204885 TDRKH Synonymous SNV H444H 0.332 0.305 0.327 99 390 117 0.254 96 62 17 19 15 6.122 4204 chr1 145075683 145075683 C T rs2762779 PDE4DIP Stop gain W60X 0.242 0.214 0.5 100 284 82 0.256 147 1 0 0 0 36 4205 chr11 130780015 130780015 C T rs1781 SNX19 Synonymous SNV P24P 0.646 0.651 0.663 255 758 250 0.654 195 251 80 66 77 18.75 4206 chr1 151811226 151811226 G A rs6673556 C2CD4D Synonymous SNV C80C 0.913 0.906 0.827 367 1072 348 0.941 243 535 174 121 183 7.123 4207 chr11 113860425 113860425 A G rs1176713 HTR3A Synonymous SNV L491L 0.231 0.219 0.228 92 271 84 0.236 67 24 8 9 11 8.34 4208 chr11 130780225 130780225 C A rs681982 SNX19 Nonsynonymous SNV L618F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.92 4209 chr1 151820298 151820298 G C rs6587624 THEM5 Nonsynonymous SNV L206V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.009 4210 chr11 1083178 1083178 C T rs375576703 MUC2 Nonsynonymous SNV A693V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.176 4211 chr11 132177633 132177633 A C rs2305271 NTM Synonymous SNV R193R 0.815 0.805 0.789 309 957 309 0.792 232 391 122 92 122 6.872 4212 chr1 151820324 151820324 T C rs6587625 THEM5 Nonsynonymous SNV D197G 0.697 0.758 0.694 287 818 291 0.736 204 285 107 75 104 6.742 4213 chr11 133714522 133714522 G A rs2282602 SPATA19 Nonsynonymous SNV A50V 0.394 0.341 0.282 139 462 131 0.356 83 95 22 8 30 29 4214 chr1 145555699 145555699 G A rs141350599 ANKRD35 Nonsynonymous SNV R16K 0.012 0.018 0 9 14 7 0.023 0 0 0 0 0 11.68 4215 chr11 113846077 113846077 C T rs33940208 HTR3A Synonymous SNV L10L 0.011 0.013 0.02 10 13 5 0.026 6 0 0 0 0 13.8 4216 chr1 151825991 151825991 G T rs7556386 THEM5 Synonymous SNV G17G 0.541 0.609 0.551 209 635 234 0.536 162 163 66 43 51 0.866 4217 chr11 133805585 133805585 C T rs329637 IGSF9B Synonymous SNV S298S 0.4 0.383 0.364 149 470 147 0.382 107 86 28 19 33 8.41 4218 chr11 116728630 116728630 G C rs12225230 SIK3 Nonsynonymous SNV P1076R 0.161 0.177 0.136 66 189 68 0.169 40 13 6 1 7 23.6 4219 chr1 151867560 151867560 G A rs3762427 THEM4 Synonymous SNV D70D 0.916 0.909 0.898 345 1075 349 0.885 264 493 159 118 153 7.36 4220 chr11 133807819 133807819 G A rs329635 IGSF9B Synonymous SNV I149I 0.179 0.182 0.139 65 210 70 0.167 41 19 10 4 6 15.6 4221 chr11 133814191 133814191 A G rs595986 IGSF9B Synonymous SNV Y111Y 0.719 0.693 0.697 276 844 266 0.708 205 294 89 66 101 3.895 4222 chr1 151881885 151881885 A C rs3748805 THEM4 Nonsynonymous SNV L17R 0.913 0.901 0.891 345 1072 346 0.885 262 493 158 118 153 0.089 4223 chr11 116729013 116729013 T C rs539858 SIK3 Synonymous SNV Q948Q 0.045 0.057 0.058 14 53 22 0.036 17 1 1 0 0 0.001 4224 chr11 134073976 134073976 T C rs764545915 NCAPD3 Nonsynonymous SNV I256V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.51 4225 chr1 145562293 145562293 G C rs11579366 ANKRD35 Nonsynonymous SNV E571Q 0.491 0.539 0.469 180 577 207 0.462 138 139 57 30 41 23.5 4226 chr11 107219674 107219674 C G CWF19L2 Nonsynonymous SNV E731Q 0.003 0 0 0 3 0 0 0 0 0 0 0 20.2 4227 chr11 116729196 116729196 T C rs541586 SIK3 Synonymous SNV L887L 0.026 0.031 0.044 10 31 12 0.026 13 1 1 0 0 1.033 4228 chr1 152079989 152079989 T G rs1131471 TCHH Nonsynonymous SNV K1902Q 0.566 0.51 0.51 225 664 196 0.577 150 182 52 42 58 0.447 4229 chr11 134151975 134151975 G C rs472287 GLB1L3 Nonsynonymous SNV R163P 0.98 0.964 0.966 375 1150 370 0.962 284 563 178 137 180 18.45 4230 chr1 152081921 152081921 G C rs2496253 TCHH Nonsynonymous SNV L1258V 0.566 0.51 0.51 225 664 196 0.577 150 182 52 42 58 10.68 4231 chr11 134182375 134182375 G A rs2509062 GLB1L3 Nonsynonymous SNV V474M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.406 4232 chr11 114392979 114392979 C T rs201047483 NXPE1 Nonsynonymous SNV R310H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 4233 chr1 146736092 146736092 C T rs4950315 CHD1L Synonymous SNV V44V 0.218 0.151 0.228 74 256 58 0.19 67 32 3 9 10 14.16 4234 chr11 117053270 117053270 G A rs78302783 SIDT2 Synonymous SNV S184S 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 13.63 4235 chr11 134188542 134188542 T C rs481252 GLB1L3 Synonymous SNV F599F 0.515 0.471 0.473 190 605 181 0.487 139 162 40 32 37 0.093 4236 chr1 152084175 152084175 - TGCTGCTCGCGCCTCTCC rs752560318 TCHH Q506_L507insERREQQ 0.363 0.307 0.276 150 426 118 0.385 81 77 14 15 21 4237 chr1 146740502 146740502 C G rs17356233 CHD1L Nonsynonymous SNV H146Q 0.243 0.174 0.228 83 285 67 0.213 67 32 3 9 10 12.91 4238 chr1 152085505 152085505 A C rs2515663 TCHH Nonsynonymous SNV L63R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.8 4239 chr11 13441126 13441126 A G rs7114113 BTBD10 Synonymous SNV N107N 0.121 0.115 0.109 56 142 44 0.144 32 8 3 3 4 4.331 4240 chr11 1093158 1093158 T C rs202045556 MUC2 Synonymous SNV T1659T 0.009 0.021 0.007 1 11 8 0.003 2 0 0 0 0 0.007 4241 chr11 13443250 13443250 C T rs3789325 BTBD10 Synonymous SNV T31T 0.121 0.115 0.109 57 142 44 0.146 32 8 3 3 4 17.36 4242 chr11 117097952 117097952 C T rs2306473 PCSK7 Synonymous SNV T230T 0.146 0.159 0.119 63 171 61 0.162 35 8 2 1 9 12.08 4243 chr11 114568772 114568772 G A rs118073951 NXPE2 Synonymous SNV S46S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.39 4244 chr11 14810762 14810762 A G rs4757268 PDE3B Synonymous SNV R463R 0.72 0.664 0.663 259 845 255 0.664 195 308 91 65 90 7.199 4245 chr1 152128212 152128212 C G rs143744326 RPTN Nonsynonymous SNV D455H 0.022 0.021 0.01 14 26 8 0.036 3 0 0 0 1 22.2 4246 chr11 1093582 1093582 G C rs55641679 MUC2 Nonsynonymous SNV A1801P 0.031 0.031 0.051 15 36 12 0.038 15 0 0 0 0 0.514 4247 chr11 14990543 14990543 G T rs5241 CALCA Nonsynonymous SNV S76R 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 4248 chr1 152129066 152129101 TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA - rs765213852 RPTN G159_H170del 0.368 0.307 0.31 150 432 118 0.385 91 79 14 16 21 4249 chr11 108040484 108040484 G T rs34052882 NPAT Nonsynonymous SNV N999K 0.084 0.07 0.095 34 99 27 0.087 28 3 4 1 0 26.2 4250 chr1 152193544 152193544 A G rs7535536 HRNR Synonymous SNV H187H 0.769 0.792 0.782 309 903 304 0.792 230 352 124 89 123 0.014 4251 chr11 14991539 14991539 T C rs5239 CALCA Nonsynonymous SNV N57D 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 4.183 4252 chr11 117163824 117163824 C G rs638405 BACE1 Synonymous SNV V162V 0.445 0.427 0.466 189 522 164 0.485 137 116 41 36 47 11.32 4253 chr1 147091972 147091972 C T rs3820129 BCL9 Nonsynonymous SNV P671S 0.336 0.383 0.347 156 395 147 0.4 102 65 25 21 29 22.6 4254 chr1 152193547 152193547 G A rs6587653 HRNR Synonymous SNV S186S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.625 4255 chr11 1501670 1501670 G C rs10742185 MOB2 Synonymous SNV S106S 0.899 0.893 0.857 327 1056 343 0.838 252 473 154 108 137 4.124 4256 chr1 152193851 152193851 C T rs11204937 HRNR Nonsynonymous SNV R85H 0.769 0.792 0.782 308 903 304 0.79 230 352 124 89 123 10.87 4257 chr11 1502097 1502097 A G rs10767696 MOB2 Synonymous SNV P43P 0.899 0.893 0.861 327 1055 343 0.838 253 473 154 109 137 0.588 4258 chr11 1507731 1507731 A G rs1881503 MOB2 Nonsynonymous SNV L19P 0.899 0.893 0.864 327 1056 343 0.838 254 473 154 110 137 1.881 4259 chr1 152195729 152195729 T - rs34061715 HRNR Star tloss M1? 0.98 0.984 0.99 381 1151 378 0.977 291 574 188 144 190 4260 chr11 108098592 108098592 T C rs3218690 ATM Synonymous SNV Y54Y 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.051 4261 chr1 152323132 152323132 G T rs12568784 FLG2 Stop gain S2377X 0.199 0.188 0.18 69 234 72 0.177 53 23 5 5 4 36 4262 chr11 15199957 15199957 T C rs1714376 INSC Synonymous SNV G181G 0.89 0.893 0.833 348 1045 343 0.892 245 467 154 102 156 6.837 4263 chr1 152325732 152325732 G A rs12022217 FLG2 Synonymous SNV H1510H 0.199 0.188 0.18 69 234 72 0.177 53 23 5 5 4 0.039 4264 chr1 150443707 150443707 C T rs200404582 RPRD2 Synonymous SNV S735S 0.012 0.018 0 8 14 7 0.021 0 0 0 0 0 9.394 4265 chr11 15243047 15243047 G A rs61745838 INSC Nonsynonymous SNV D240N 0.051 0.052 0.065 15 60 20 0.038 19 3 0 0 0 24.2 4266 chr11 117310022 117310022 A G rs11216387 DSCAML1 Synonymous SNV T1368T 0.162 0.13 0.16 66 190 50 0.169 47 14 5 4 8 0.849 4267 chr1 152327469 152327469 C T rs76514540 FLG2 Synonymous SNV Q931Q 0.091 0.096 0.044 28 107 37 0.072 13 1 0 0 0 4.403 4268 chr11 117403235 117403235 G T rs3741280 DSCAML1 Nonsynonymous SNV H172N 0.296 0.279 0.286 89 347 107 0.228 84 58 16 17 10 10.92 4269 chr1 152327502 152327502 A G rs138997916 FLG2 Synonymous SNV S920S 0.085 0.078 0.044 25 100 30 0.064 13 1 0 0 0 0.097 4270 chr1 150526044 150526044 G C rs41317515 ADAMTSL4 Nonsynonymous SNV A193P 0.459 0.424 0.517 171 539 163 0.438 152 112 37 41 30 Benign 0.007 4271 chr11 15243059 15243059 G A rs17507577 INSC Nonsynonymous SNV D244N 0.12 0.112 0.116 41 141 43 0.105 34 7 4 3 1 31 4272 chr1 152328411 152328411 A G rs6679449 FLG2 Synonymous SNV S617S 0.222 0.211 0.218 72 261 81 0.185 64 31 9 8 7 0.233 4273 chr11 117779305 117779305 C A rs80264810 TMPRSS13 Nonsynonymous SNV R435L 0.068 0.07 0.058 19 80 27 0.049 17 2 0 0 1 7.573 4274 chr1 152329435 152329435 C T rs2282303 FLG2 Nonsynonymous SNV R276Q 0.204 0.19 0.18 69 240 73 0.177 53 24 5 5 4 0.726 4275 chr11 16133413 16133413 A G rs4617548 SOX6 Synonymous SNV T278T 0.422 0.388 0.405 156 496 149 0.4 119 92 30 24 30 0.016 4276 chr11 116691675 116691675 T C rs675 APOA4 Nonsynonymous SNV T367A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.003 4277 chr11 1651140 1651140 T C rs143524208 KRTAP5-5 Nonsynonymous SNV C24R 0.077 0.073 0.065 28 90 28 0.072 19 3 2 1 0 17.09 4278 chr1 152331240 152331240 G A rs3818831 FLG2 Nonsynonymous SNV L41F 0.206 0.195 0.194 73 242 75 0.187 57 25 6 6 6 11.02 4279 chr11 117066690 117066690 T C rs1263502 LOC100652768 0.017 0.023 0.003 4 20 9 0.01 1 0 1 0 0 4.194 4280 chr11 1651586 1651615 CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA - rs766608240 KRTAP5-5 Y192_P201del 0.241 0.211 0.241 80 283 81 0.205 71 33 8 5 7 4281 chr11 116633947 116633947 G A rs10488698 BUD13 Nonsynonymous SNV R120C 0.078 0.052 0.054 23 91 20 0.059 16 2 0 1 0 13.96 4282 chr1 152382120 152382120 C T rs3829868 CRNN Nonsynonymous SNV G480S 0.195 0.195 0.173 65 229 75 0.167 51 19 7 5 5 14.26 4283 chr11 16848077 16848077 G A rs390974 PLEKHA7 Synonymous SNV H311H 0.141 0.154 0.133 63 166 59 0.162 39 10 6 3 4 0.194 4284 chr11 117859209 117859209 G A rs4252249 IL10RA Synonymous SNV A60A 0.072 0.083 0.065 35 85 32 0.09 19 2 1 2 3 Benign 5.069 4285 chr11 105845264 105845264 C T rs186295021 GRIA4 Synonymous SNV T879T 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 18.69 4286 chr11 16863210 16863210 G C rs35873274 PLEKHA7 Synonymous SNV A252A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 11.26 4287 chr11 17035718 17035718 A G rs61881311 PLEKHA7 Synonymous SNV H39H 0.594 0.602 0.565 245 697 231 0.628 166 205 74 45 81 11.07 4288 chr1 152484129 152484129 G A rs2105117 LCE5A Nonsynonymous SNV C40Y 0.7 0.654 0.653 282 822 251 0.723 192 288 79 65 102 5.985 4289 chr11 17096211 17096211 A G rs1541533 SNORD14A 0 0 0.058 0 0 0 0 17 0 0 0 0 16.77 4290 chr11 116747025 116747025 C T rs45511502 SIK3 Nonsynonymous SNV E347K 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 25.2 4291 chr11 117222592 117222592 G A rs490262 CEP164 Nonsynonymous SNV S94N 0.235 0.208 0.218 69 276 80 0.177 64 27 7 6 12 Benign 8.48 4292 chr11 17112977 17112977 T C rs61751351 PIK3C2A Synonymous SNV P1214P 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 5.724 4293 chr1 152487979 152487979 C T rs2282296 CRCT1 Synonymous SNV C40C 0.693 0.648 0.629 282 813 249 0.723 185 291 82 65 105 13.91 4294 chr11 17118687 17118687 T C rs11604561 PIK3C2A Nonsynonymous SNV T1035A 0.185 0.146 0.214 62 217 56 0.159 63 13 6 4 5 16.58 4295 chr1 152488063 152488063 C T rs1053588 CRCT1 Synonymous SNV R68R 0.691 0.638 0.619 281 811 245 0.721 182 293 82 65 105 15.45 4296 chr1 152681680 152681680 - AGCTCTGGGGGCTGCTGT rs11269814 LCE4A C48_G49insCSSGGC 0.694 0.656 0.68 260 815 252 0.667 200 276 81 69 86 4297 chr11 17172133 17172133 T C rs2302511 PIK3C2A Synonymous SNV A33A 0.997 0.995 0.997 388 1170 382 0.995 293 583 190 146 193 0.047 4298 chr1 150923099 150923099 T C rs17661357 SETDB1 Synonymous SNV C582C 0.116 0.096 0.102 57 136 37 0.146 30 9 2 3 3 0.176 4299 chr1 152692074 152692074 G C rs1332500 C1orf68 Nonsynonymous SNV S26T 0.325 0.315 0.344 97 382 121 0.249 101 59 22 22 10 0.001 4300 chr11 17191019 17191019 A G rs214936 PIK3C2A Synonymous SNV I90I 0.44 0.43 0.367 176 516 165 0.451 108 127 38 18 40 1.911 4301 chr11 108383676 108383676 A G rs10749920 EXPH5 Nonsynonymous SNV L665P 0.194 0.174 0.194 83 228 67 0.213 57 24 8 2 6 0.073 4302 chr1 150960350 150960350 A C rs7532008 ANXA9 Synonymous SNV A205A 0.477 0.404 0.439 191 560 155 0.49 129 149 29 27 44 0.04 4303 chr11 17394038 17394039 TT - rs61406813 NCR3LG1 L449Tfs*9 0.077 0.094 0.105 40 90 36 0.103 31 0 2 2 2 4304 chr11 17408630 17408630 C T rs5215 KCNJ11 Nonsynonymous SNV V337I 0.672 0.651 0.667 260 789 250 0.667 196 269 77 69 85 Benign/Likely benign 12.36 4305 chr1 152692472 152692472 A C rs873775 C1orf68 Nonsynonymous SNV T159P 0.325 0.315 0.344 97 382 121 0.249 101 59 22 22 10 0.279 4306 chr11 117303858 117303858 T C rs11216382 DSCAML1 Synonymous SNV Q1674Q 0.132 0.154 0.139 52 155 59 0.133 41 12 6 3 3 0.714 4307 chr11 17409069 17409069 G A rs5218 KCNJ11 Synonymous SNV A190A 0.235 0.203 0.214 82 276 78 0.21 63 33 9 8 12 Benign/Likely benign 5.115 4308 chr1 152692588 152692588 A G rs944682 C1orf68 Synonymous SNV S197S 0.325 0.315 0.344 97 382 121 0.249 101 59 22 22 10 0.065 4309 chr11 117335722 117335722 T C rs538847 DSCAML1 Synonymous SNV Q1067Q 0.505 0.495 0.561 184 593 190 0.472 165 147 45 48 41 2.681 4310 chr11 17409572 17409572 T C rs5219 KCNJ11 Nonsynonymous SNV K23E 0.675 0.654 0.67 262 793 251 0.672 197 272 78 69 87 drug response 0.132 4311 chr1 152732436 152732436 G C rs4845480 KPRP Synonymous SNV A124A 0.516 0.484 0.51 179 606 186 0.459 150 152 39 39 45 4.088 4312 chr1 152733301 152733301 T A rs4329520 KPRP Nonsynonymous SNV C413S 0.517 0.487 0.51 181 607 187 0.464 150 153 39 39 45 12.66 4313 chr11 17418477 17418477 C A rs757110 ABCC8 Nonsynonymous SNV A1369S 0.668 0.643 0.667 256 784 247 0.656 196 265 75 68 83 Benign 10.25 4314 chr1 151009208 151009208 A G rs41266605 BNIPL Nonsynonymous SNV T3A 0.032 0.039 0.02 17 37 15 0.044 6 0 0 0 0 13.23 4315 chr11 17419279 17419279 C T rs1799859 ABCC8 Synonymous SNV R1273R 0.319 0.328 0.32 119 374 126 0.305 94 55 17 16 19 Benign 16.01 4316 chr1 153066072 153066072 T C rs3737865 SPRR2E Synonymous SNV Q52Q 0.09 0.081 0.054 34 106 31 0.087 16 5 1 1 0 0.002 4317 chr11 113803108 113803108 A C rs72466469 HTR3B Nonsynonymous SNV S145R 0.015 0.01 0.017 2 18 4 0.005 5 0 0 0 0 20.9 4318 chr1 153066098 153066098 G A rs200356708 SPRR2E Nonsynonymous SNV P44S 0.026 0.026 0.003 8 30 10 0.021 1 0 0 0 0 4.425 4319 chr11 17434284 17434284 G A rs1805036 ABCC8 Synonymous SNV L829L 0.094 0.102 0.122 28 110 39 0.072 36 8 2 2 1 Benign 10.78 4320 chr11 10875055 10875055 T C rs1046297 ZBED5 Nonsynonymous SNV I480V 0.063 0.06 0.065 22 74 23 0.056 19 5 1 1 0 23.6 4321 chr11 17452492 17452492 G A rs1799857 ABCC8 Synonymous SNV H562H 0.403 0.453 0.473 164 473 174 0.421 139 94 42 35 31 Benign 11.18 4322 chr11 113860378 113860378 C T rs377539661 HTR3A Nonsynonymous SNV R476C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.6 4323 chr1 153066113 153066113 G A rs199729907 SPRR2E Nonsynonymous SNV P39S 0.026 0.026 0.003 8 30 10 0.021 1 0 0 0 0 4.717 4324 chr11 17496516 17496516 A G rs1048099 ABCC8 Synonymous SNV P69P 0.561 0.526 0.571 215 659 202 0.551 168 185 60 55 62 Benign/Likely benign 1.617 4325 chr11 118404804 118404804 G A rs6589664 TMEM25 Synonymous SNV P151P 0.277 0.242 0.241 108 325 93 0.277 71 43 10 11 13 13.07 4326 chr11 117309989 117309989 C T rs11216386 DSCAML1 Synonymous SNV L1379L 0.129 0.107 0.143 59 151 41 0.151 42 9 2 3 8 12.49 4327 chr1 151110832 151110832 G A rs72708441 SEMA6C Synonymous SNV C169C 0.086 0.109 0.082 36 101 42 0.092 24 4 4 2 2 10.28 4328 chr11 17519742 17519742 C G rs1064074 USH1C Nonsynonymous SNV E500D 0.517 0.521 0.571 192 607 200 0.492 168 153 55 49 48 Benign 24.4 4329 chr11 117342672 117342672 T C rs34573317 DSCAML1 Synonymous SNV A955A 0.043 0.068 0.027 16 51 26 0.041 8 1 1 0 0 8.154 4330 chr1 153233578 153233578 C T rs1143389 LOR Synonymous SNV C51C 0.167 0.159 0.173 67 196 61 0.172 51 42 12 10 6 10.61 4331 chr11 118502121 118502121 A G rs17614795 PHLDB1 Synonymous SNV L675L 0.06 0.044 0.027 18 70 17 0.046 8 3 0 0 0 9.849 4332 chr11 118068752 118068752 T C rs2298831 JAML Nonsynonymous SNV I283M 0.145 0.18 0.187 67 170 69 0.172 55 8 7 4 6 0.017 4333 chr11 117376413 117376413 G A rs34138305 DSCAML1 Synonymous SNV P606P 0.096 0.125 0.061 38 113 48 0.097 18 7 2 0 1 10.63 4334 chr11 17522638 17522638 G A rs10832796 USH1C Synonymous SNV V461V 0.321 0.37 0.367 117 377 142 0.3 108 63 29 19 23 Benign 17.42 4335 chr1 153233991 153233991 - CTCTGGCGGCGG rs11272549 LOR G195_C196insGGSG 0.64 0.641 0.415 238 751 246 0.61 122 303 99 55 89 4336 chr11 17569527 17569527 C G rs76186800 OTOG Nonsynonymous SNV Q50E 0.164 0.156 0.221 78 193 60 0.2 65 23 5 8 11 5.326 4337 chr1 153277423 153277423 C T rs843971 PGLYRP3 Nonsynonymous SNV G126S 0.44 0.419 0.483 180 516 161 0.462 142 114 36 35 42 24.2 4338 chr11 17593655 17593655 C T rs547173007 OTOG Nonsynonymous SNV P674S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.5 4339 chr11 118765231 118765231 C T rs12795395 CXCR5 Synonymous SNV G281G 0.038 0.016 0.02 9 45 6 0.023 6 1 0 0 0 15.42 4340 chr11 118773438 118773438 C T rs35346926 BCL9L Synonymous SNV S338S 0.039 0.018 0.024 7 46 7 0.018 7 1 0 0 0 13.53 4341 chr11 17627613 17627613 G C rs7934079 OTOG Nonsynonymous SNV A1375P 0.796 0.828 0.83 307 934 318 0.787 244 365 135 101 122 Benign 4.845 4342 chr1 153314153 153314153 C A rs3006448 PGLYRP4 Nonsynonymous SNV G192V 0.847 0.839 0.837 338 994 322 0.867 246 419 137 105 148 4.178 4343 chr11 17662470 17662470 G A rs753850661 OTOG Synonymous SNV P2686P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.154 4344 chr1 151337703 151337703 C T rs72710112 SELENBP1 Nonsynonymous SNV E305K 0.012 0.01 0.02 7 14 4 0.018 6 0 0 0 0 Benign 18.75 4345 chr1 153315579 153315579 A G rs3014863 PGLYRP4 Synonymous SNV F153F 0.923 0.927 0.912 359 1084 356 0.921 268 501 167 123 164 3.709 4346 chr11 17981047 17981047 C T rs211146 SERGEF Synonymous SNV S327S 0.613 0.583 0.622 224 720 224 0.574 183 228 66 58 61 21.6 4347 chr11 118922200 118922200 G A rs1804690 HYOU1 Synonymous SNV N492N 0.112 0.125 0.16 47 131 48 0.121 47 5 1 7 2 11.12 4348 chr11 118178007 118178007 C T rs1126924 CD3E Synonymous SNV G18G 0.287 0.268 0.265 122 337 103 0.313 78 42 12 8 17 Benign 11.75 4349 chr1 153317723 153317723 T C rs3006453 PGLYRP4 Nonsynonymous SNV Q92R 0.098 0.107 0.109 29 115 41 0.074 32 7 1 0 1 0.001 4350 chr1 151337727 151337727 C T rs752091592 SELENBP1 Nonsynonymous SNV G297S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 23.2 4351 chr11 18108492 18108492 T C rs12363226 SAAL1 Synonymous SNV T321T 0.276 0.297 0.262 95 324 114 0.244 77 45 12 10 7 6.168 4352 chr11 118401548 118401548 C T TTC36 Synonymous SNV L71L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.31 4353 chr11 118925935 118925935 G A rs511134 HYOU1 Synonymous SNV F127F 0.039 0.034 0.014 15 46 13 0.038 4 0 0 0 1 11.14 4354 chr11 18108512 18108512 T C rs35525096 SAAL1 Nonsynonymous SNV I315V 0.11 0.125 0.112 45 129 48 0.115 33 8 4 1 1 10.64 4355 chr1 153320372 153320372 T G rs3006458 PGLYRP4 Nonsynonymous SNV I13L 0.843 0.831 0.83 335 990 319 0.859 244 416 135 103 145 0.757 4356 chr11 18127558 18127558 - CGG rs148650821 SAAL1 P10_G11insP 0.274 0.294 0.238 95 322 113 0.244 70 45 11 10 7 4357 chr11 108409870 108409870 A G rs114174097 EXPH5 Synonymous SNV N32N 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign 6.202 4358 chr11 118425758 118425758 G C rs145438119 IFT46 Nonsynonymous SNV P101A 0.01 0.008 0.014 5 12 3 0.013 4 0 0 1 0 24.9 4359 chr11 18253176 18253176 C T rs2460827 SAA2-SAA4, SAA4 Nonsynonymous SNV C89Y 0.968 0.966 0.976 375 1136 371 0.962 287 551 179 140 181 3.642 4360 chr1 153509892 153509892 A G rs2248745 S100A5 Synonymous SNV D53D 0.078 0.078 0.102 39 91 30 0.1 30 3 3 0 3 1.156 4361 chr1 153517172 153517172 T C rs1050923 S100A4 Synonymous SNV E33E 0.058 0.065 0.088 29 68 25 0.074 26 1 1 0 0 4.434 4362 chr11 18327684 18327684 G T rs1140047 HPS5 Synonymous SNV L160L 0.567 0.549 0.602 221 666 211 0.567 177 205 57 54 68 Benign 11.11 4363 chr11 118015832 118015832 G A rs45539032 SCN4B Synonymous SNV C58C 0.046 0.049 0.054 14 54 19 0.036 16 1 0 0 0 Benign/Likely benign 11.1 4364 chr1 153520203 153520203 G A rs41265164 S100A3 Synonymous SNV H87H 0.06 0.065 0.095 29 71 25 0.074 28 1 1 0 0 10.28 4365 chr11 1093507 1093507 A G rs56189540 MUC2 Nonsynonymous SNV M1776V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.012 4366 chr11 18424451 18424451 C T rs4687 LDHA Synonymous SNV S103S 0.695 0.68 0.687 270 816 261 0.692 202 302 91 71 92 Benign 19.57 4367 chr11 118513078 118513078 C T rs144530920 PHLDB1 Nonsynonymous SNV P948L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.5 4368 chr1 153520954 153520954 C T rs36022742 S100A3 Nonsynonymous SNV R3K 0.064 0.065 0.078 28 75 25 0.072 23 1 1 0 0 5.136 4369 chr11 18424487 18424487 A G rs4820 LDHA Synonymous SNV L115L 0.693 0.674 0.687 267 813 259 0.685 202 305 91 71 92 Benign 7.567 4370 chr11 114568942 114568942 T C rs11215158 NXPE2 Nonsynonymous SNV V103A 0.151 0.156 0.17 74 177 60 0.19 50 14 5 4 5 9.391 4371 chr11 18467821 18467821 T C rs2658565 LDHC Synonymous SNV L259L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.465 4372 chr11 1857173 1857173 T C rs564271 SYT8 Nonsynonymous SNV C121R 1 1 0.997 386 1174 384 0.99 293 587 192 146 191 0.003 4373 chr1 153521018 153521018 A C rs28548347 LOC101928034 0.063 0.065 0.051 27 74 25 0.069 15 1 1 0 0 0.025 4374 chr1 153534027 153534027 C T rs1047325 S100A2 Nonsynonymous SNV S28N 0.061 0.068 0.092 27 72 26 0.069 27 1 2 0 0 4.019 4375 chr11 118886117 118886117 C T rs10111 CCDC84 Synonymous SNV R302R 0.227 0.203 0.204 74 267 78 0.19 60 40 10 7 8 15.27 4376 chr11 1857747 1857747 T C rs3741232 SYT8 Synonymous SNV R218R 0.288 0.279 0.289 114 338 107 0.292 85 53 14 12 12 0.081 4377 chr11 116691675 116691675 T A rs675 APOA4 Nonsynonymous SNV T367S 0.218 0.216 0.245 84 256 83 0.215 72 22 9 8 11 0.018 4378 chr11 118895686 118895686 C T rs8192696 SLC37A4 Synonymous SNV T408T 0.223 0.198 0.207 74 262 76 0.19 61 40 8 7 8 Benign 15.93 4379 chr11 1857751 1857751 C G rs3741231 SYT8 Nonsynonymous SNV P220A 0.288 0.273 0.289 116 338 105 0.297 85 53 14 12 12 13.6 4380 chr1 153751618 153751618 G A rs547168142 SLC27A3 Nonsynonymous SNV E559K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 4381 chr11 1857762 1857762 C T rs3741230 SYT8 Synonymous SNV T223T 0.193 0.161 0.197 74 227 62 0.19 58 24 7 5 5 14.38 4382 chr1 153907279 153907287 CTGCTGCTG - rs3835302 DENND4B Q919_Q921del 0.382 0.427 0.371 153 448 164 0.392 109 82 35 21 26 4383 chr11 118373374 118373374 G A rs782797999 KMT2A Nonsynonymous SNV S2256N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.368 4384 chr1 153909069 153909069 G C rs1043608 DENND4B Synonymous SNV A807A 0.382 0.427 0.374 153 449 164 0.392 110 83 35 21 26 7.512 4385 chr11 1858572 1858572 C T rs2292474 SYT8 Nonsynonymous SNV R374W 0.451 0.419 0.469 181 530 161 0.464 138 109 34 31 42 15.7 4386 chr11 116692552 116692552 A G rs5103 APOA4 Synonymous SNV G74G 0.021 0.029 0.01 4 25 11 0.01 3 0 0 0 0 0.141 4387 chr11 110036365 110036365 A C rs61756697 ZC3H12C Nonsynonymous SNV D852A 0.037 0.057 0.031 18 44 22 0.046 9 1 1 0 0 20.8 4388 chr1 153926078 153926078 T C rs11264680 CRTC2 Nonsynonymous SNV M147V 0.382 0.424 0.374 152 449 163 0.39 110 83 35 21 26 7.983 4389 chr11 118251980 118251980 A T rs45501598 LOC100131626 0.051 0.055 0.156 17 60 21 0.044 46 22 8 7 5 7.481 4390 chr11 1861760 1861760 T C rs907610 TNNI2 Synonymous SNV S20S 0.848 0.854 0.84 334 995 328 0.856 247 423 140 106 145 Benign/Likely benign 5.507 4391 chr11 118347654 118347654 A G rs9332783 KMT2A Synonymous SNV P1097P 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Benign 9.514 4392 chr11 18633971 18633971 G A rs11605097 SPTY2D1 Synonymous SNV D592D 0.48 0.471 0.466 173 564 181 0.444 137 129 47 33 40 6.02 4393 chr11 119183067 119183067 C T rs35607515 MCAM Synonymous SNV R311R 0.055 0.049 0.024 23 65 19 0.059 7 2 1 0 0 10.49 4394 chr1 154108387 154108387 G A rs3001361 NUP210L Synonymous SNV N304N 0.999 1 0.986 389 1173 384 0.997 290 586 192 143 194 5.127 4395 chr11 118772160 118772160 G A rs61730467 BCL9L Synonymous SNV P764P 0.058 0.057 0.048 22 68 22 0.056 14 1 1 0 0 Benign 1.694 4396 chr11 18731004 18731004 C G rs72880717 IGSF22 Synonymous SNV R976R 0.204 0.198 0.204 67 239 76 0.172 60 24 12 6 8 11.4 4397 chr1 154178079 154178079 G A rs74957241 C1orf189 Synonymous SNV V23V 0.165 0.188 0.136 66 194 72 0.169 40 10 6 3 5 2.877 4398 chr11 18735947 18735947 T C rs7125943 IGSF22 Nonsynonymous SNV M559V 0.687 0.711 0.69 280 806 273 0.718 203 268 103 73 98 0.001 4399 chr1 154245917 154245917 T C rs13796 HAX1 Synonymous SNV S53S 0.122 0.125 0.129 44 143 48 0.113 38 7 3 3 1 Benign/Likely benign 2.214 4400 chr11 111624270 111624270 T C rs115165302 PPP2R1B Nonsynonymous SNV K227R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 8.648 4401 chr11 119216504 119216504 C T rs3814762 MFRP Nonsynonymous SNV V136M 0.315 0.346 0.354 132 370 133 0.338 104 62 23 20 29 Benign/Likely benign 0.239 4402 chr11 18737095 18737095 C T rs4424652 IGSF22 Nonsynonymous SNV R472Q 0.684 0.706 0.687 278 803 271 0.713 202 267 101 72 96 22.4 4403 chr1 154295592 154295592 C T rs6685323 AQP10 Nonsynonymous SNV H123Y 0.269 0.266 0.255 93 316 102 0.238 75 48 19 11 12 0.248 4404 chr11 113078035 113078035 C T rs17115154 NCAM1 Synonymous SNV L227L 0.032 0.023 0.027 10 37 9 0.026 8 0 0 0 0 15.84 4405 chr11 18738281 18738281 C T rs10766494 IGSF22 Nonsynonymous SNV V414I 0.684 0.708 0.687 279 803 272 0.715 202 267 102 72 97 10.54 4406 chr1 152127455 152127455 T C rs75957773 RPTN Nonsynonymous SNV E707G 0.279 0.24 0.241 112 328 92 0.287 71 42 9 10 13 8.931 4407 chr1 154303976 154303976 T C rs6702754 ATP8B2 Synonymous SNV N139N 0.27 0.271 0.255 96 317 104 0.246 75 49 19 11 12 6.934 4408 chr11 117099025 117099025 A G rs2306474 PCSK7 Synonymous SNV G170G 0.02 0.026 0.017 4 23 10 0.01 5 0 0 0 0 5.838 4409 chr1 154310048 154310048 C G rs1760795 ATP8B2 Synonymous SNV L354L 0.516 0.523 0.582 205 606 201 0.526 171 160 53 52 52 5.78 4410 chr11 18738329 18738329 C T rs61886891 IGSF22 Nonsynonymous SNV E398K 0.194 0.182 0.204 66 228 70 0.169 60 22 10 7 7 22.6 4411 chr1 154317153 154317153 C T rs1194587 ATP8B2 Synonymous SNV S745S 0.516 0.523 0.585 205 606 201 0.526 172 160 53 53 52 11.64 4412 chr11 18764026 18764026 G C rs4757707 PTPN5 Nonsynonymous SNV P146A 0.44 0.482 0.446 170 517 185 0.436 131 114 51 33 35 10.33 4413 chr1 154426970 154426970 A C rs2228145 IL6R Nonsynonymous SNV D358A 0.372 0.375 0.241 141 437 144 0.362 71 89 20 14 24 association 4.955 4414 chr11 113258616 113258616 G T rs35657708 ANKK1 Nonsynonymous SNV D4Y 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 9.176 4415 chr11 1880730 1880730 C A rs75966923 MIR4298 0 0 0.027 0 0 0 0 8 0 0 0 0 6.487 4416 chr1 154474131 154474131 C G rs4845635 SHE Synonymous SNV R124R 0.844 0.831 0.806 337 991 319 0.864 237 420 133 96 144 11.23 4417 chr11 111958677 111958677 A G rs11214077 SDHD Nonsynonymous SNV H50R 0.011 0.008 0.02 4 13 3 0.01 6 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 4418 chr11 1887806 1887806 T A rs7938342 LSP1 Nonsynonymous SNV H34Q 0.698 0.68 0.633 281 820 261 0.721 186 287 87 63 101 12.45 4419 chr1 154516477 154516477 G A rs12750774 TDRD10 Nonsynonymous SNV R181Q 0.264 0.229 0.286 90 310 88 0.231 84 37 11 11 6 3.967 4420 chr11 119243670 119243670 C T rs33929148 USP2 Nonsynonymous SNV R174Q 0.028 0.013 0.034 11 33 5 0.028 10 0 0 0 0 22.2 4421 chr11 118828942 118828942 A G rs623500 UPK2 Synonymous SNV X185X 0.132 0.133 0.105 46 155 51 0.118 31 14 4 2 2 8.21 4422 chr11 18956194 18956194 T C rs2014931 MRGPRX1 Synonymous SNV A46A 0.389 0.424 0.388 150 457 163 0.385 114 83 31 22 27 0.07 4423 chr1 152329369 152329369 C G rs2282302 FLG2 Nonsynonymous SNV C298S 0.222 0.216 0.241 107 261 83 0.274 71 35 9 10 15 13.98 4424 chr11 119027348 119027348 C T rs369798507 ABCG4 Synonymous SNV L295L 0.003 0.013 0 0 4 5 0 0 0 1 0 0 13.7 4425 chr11 118849720 118849720 C G rs45602538 FOXR1 Nonsynonymous SNV P64A 0.003 0.01 0.007 1 3 4 0.003 2 0 0 0 0 22.4 4426 chr11 19167850 19167850 A G rs2271001 ZDHHC13 Nonsynonymous SNV K99R 0.675 0.69 0.673 277 793 265 0.71 198 264 91 65 99 15.46 4427 chr1 154516571 154516571 T C rs6678164 TDRD10 Synonymous SNV A212A 1 0.997 0.98 389 1174 383 0.997 288 587 191 142 194 7.484 4428 chr1 154573967 154573967 T C rs2229857 ADAR Nonsynonymous SNV K89R 0.693 0.721 0.759 264 813 277 0.677 223 280 102 84 92 Benign 0.005 4429 chr11 193722 193722 A G rs2294082 SCGB1C1, SCGB1C2 Synonymous SNV T22T 0.17 0.117 0.19 62 200 45 0.159 56 0 0 0 0 Benign 0.011 4430 chr11 193863 193863 T C rs2294081 SCGB1C1, SCGB1C2 Synonymous SNV C69C 0.571 0.547 0.565 211 670 210 0.541 166 83 18 19 16 Likely benign 0.051 4431 chr11 193865 193865 T G rs2686894 SCGB1C1, SCGB1C2 Nonsynonymous SNV I70R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 24.1 4432 chr1 154574820 154574820 T C rs1466731 ADAR Nonsynonymous SNV R100G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.002 4433 chr11 194441 194441 C T rs61997072 SCGB1C1, SCGB1C2 Synonymous SNV D93D 0.134 0.089 0.156 44 157 34 0.113 46 0 0 0 0 12.02 4434 chr1 152944594 152944594 C T rs3170863 SPRR4 Synonymous SNV S76S 0.582 0.596 0.548 205 683 229 0.526 161 199 67 44 50 11.66 4435 chr1 154575040 154575040 C T rs1802645 ADAR Synonymous SNV R26R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 11.11 4436 chr11 197337 197337 G A rs3802984 ODF3 Synonymous SNV R11R 0.233 0.164 0.231 80 273 63 0.205 68 44 7 5 2 10.47 4437 chr11 117375679 117375679 G A rs139385882 DSCAML1 Synonymous SNV D714D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.594 4438 chr1 152957832 152957832 C A rs1611762 SPRR1A Nonsynonymous SNV H42Q 0.481 0.492 0.459 178 565 189 0.456 135 128 50 28 38 15.72 4439 chr11 19735987 19735987 A G rs2278132 LOC100126784 0 0 0.486 0 0 0 0 143 0 0 32 0 2.704 4440 chr1 154744807 154744807 C G rs1051614 KCNN3 Synonymous SNV L364L 0.675 0.698 0.633 261 792 268 0.669 186 278 95 55 88 Benign 10.76 4441 chr11 19854088 19854088 G A rs6483617 NAV2 Nonsynonymous SNV R45K 0.421 0.354 0.381 167 494 136 0.428 112 98 22 19 40 13.13 4442 chr11 119064558 119064558 G A rs12417928 CCDC153 Synonymous SNV S58S 0.044 0.052 0.031 21 52 20 0.054 9 3 0 0 1 10.93 4443 chr1 154744852 154744852 A G rs1131820 KCNN3 Synonymous SNV N349N 0.783 0.818 0.752 296 919 314 0.759 221 364 127 79 111 Benign 2.47 4444 chr1 152957887 152957887 G A rs1611764 SPRR1A Nonsynonymous SNV V61I 0.481 0.492 0.463 178 565 189 0.456 136 128 50 29 38 23.2 4445 chr1 154842199 154842199 - GCTGCTGCTGCTGCTGCTGCT rs3831942 KCNN3 Q80_P81insQQQQQQQ 0.032 0.029 0 15 38 11 0.038 0 6 1 0 0 4446 chr1 154988957 154988957 A G rs2242195 ZBTB7B Synonymous SNV P472P 0.634 0.633 0.619 265 744 243 0.679 182 236 76 53 87 2.729 4447 chr11 19901632 19901632 G A rs11025310 NAV2 Synonymous SNV A179A 0.448 0.44 0.422 184 526 169 0.472 124 117 40 21 46 12.22 4448 chr11 19955500 19955500 A G rs1372989 NAV2 Synonymous SNV K506K 0.896 0.906 0.905 349 1052 348 0.895 266 474 159 121 157 0.028 4449 chr1 155026871 155026871 G T rs11548311 ADAM15 Synonymous SNV S177S 0.125 0.12 0.139 54 147 46 0.138 41 6 3 4 5 9.442 4450 chr1 152975763 152975763 C A rs1977734 SPRR3 Synonymous SNV G89G 0.477 0.49 0.466 178 560 188 0.456 137 127 50 30 38 7.762 4451 chr11 19970558 19970558 T C rs2585773 NAV2 Synonymous SNV D795D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 4.522 4452 chr11 117864113 117864113 G A rs2228054 IL10RA Synonymous SNV P175P 0.08 0.083 0.082 29 94 32 0.074 24 2 2 0 0 Benign 6.743 4453 chr1 155026942 155026942 A C rs6427128 ADAM15 Nonsynonymous SNV K201T 0.825 0.841 0.803 323 968 323 0.828 236 402 135 93 131 0.031 4454 chr1 152975829 152975829 A G rs1970328 SPRR3 Synonymous SNV E111E 0.478 0.49 0.466 178 561 188 0.456 137 128 50 30 38 0.209 4455 chr11 19970579 19970579 C T rs2707084 NAV2 Synonymous SNV D802D 0.997 1 0.99 389 1171 384 0.997 291 584 192 144 194 12.56 4456 chr11 120198093 120198093 G A rs1893261 TLCD5 Synonymous SNV Q3Q 0.377 0.38 0.245 142 443 146 0.364 72 84 29 7 27 0.154 4457 chr11 117864846 117864846 A G rs2228055 IL10RA Nonsynonymous SNV I224V 0.071 0.083 0.078 28 83 32 0.072 23 1 2 0 0 Benign 0.001 4458 chr1 152975941 152975941 C G rs1055935 SPRR3 Nonsynonymous SNV L149V 0.479 0.492 0.466 178 562 189 0.456 137 128 51 30 38 0.002 4459 chr11 20065779 20065779 C G rs3802800 NAV2 Nonsynonymous SNV P140A 0.982 0.977 0.963 383 1153 375 0.982 283 566 183 136 188 14.32 4460 chr11 119216279 119216279 G A rs36015759 MFRP Synonymous SNV Y164Y 0.164 0.156 0.177 56 192 60 0.144 52 15 6 5 4 Benign/Likely benign 6.373 4461 chr1 155030557 155030557 A C rs11264303 ADAM15 Synonymous SNV T559T 0.496 0.51 0.51 188 582 196 0.482 150 144 46 37 45 0.007 4462 chr1 155106227 155106227 A T rs4745 EFNA1 Nonsynonymous SNV D137V 0.637 0.617 0.622 232 748 237 0.595 183 233 77 60 68 7.916 4463 chr11 20067064 20067064 C T rs7125647 NAV2 Synonymous SNV D336D 0.572 0.589 0.534 211 671 226 0.541 157 183 69 40 56 9.753 4464 chr11 120745874 120745874 C T rs2230297 GRIK4 Synonymous SNV H362H 0.092 0.055 0.112 37 108 21 0.095 33 5 1 2 1 13.12 4465 chr1 153233488 153233488 - GGCGGT LOR G28_S29insGG 0.204 0.201 0.204 77 240 77 0.197 60 27 10 12 7 4466 chr11 20099112 20099112 A T rs4757028 NAV2 Synonymous SNV A730A 0.867 0.885 0.84 331 1018 340 0.849 247 446 152 106 141 8.641 4467 chr11 20099541 20099541 C T rs6483642 NAV2 Synonymous SNV D754D 0.859 0.852 0.827 325 1009 327 0.833 243 436 141 103 137 12.21 4468 chr1 155162067 155162067 C T rs4072037 MUC1 Synonymous SNV T31T 0.434 0.466 0.412 187 510 179 0.479 121 109 42 28 42 12.19 4469 chr1 153234295 153234295 G A rs12043009 LOR Synonymous SNV G290G 0.115 0.117 0.241 51 135 45 0.131 71 24 10 13 7 12.84 4470 chr11 20101704 20101704 C T rs1867114 NAV2 Synonymous SNV S822S 0.848 0.852 0.806 322 996 327 0.826 237 427 140 99 134 21.2 4471 chr11 120823608 120823608 G A rs2298725 GRIK4 Synonymous SNV P545P 0.303 0.336 0.299 125 356 129 0.321 88 50 21 12 17 11.85 4472 chr1 155172725 155172725 T C rs35154152 THBS3 Nonsynonymous SNV S159G 0.093 0.112 0.105 40 109 43 0.103 31 7 4 2 1 13.65 4473 chr11 20101744 20101744 C A rs1867115 NAV2 Synonymous SNV R836R 0.85 0.852 0.81 323 998 327 0.828 238 428 140 100 134 22.9 4474 chr11 120827609 120827609 A G rs644057 GRIK4 Synonymous SNV Q607Q 0.613 0.628 0.595 240 720 241 0.615 175 218 73 56 70 3.508 4475 chr11 20112417 20112417 A C rs2243624 NAV2 Synonymous SNV S899S 0.275 0.255 0.272 103 323 98 0.264 80 44 10 15 13 0.033 4476 chr11 20124914 20124914 A C rs2243411 NAV2 Synonymous SNV G1241G 0.963 0.932 0.959 366 1130 358 0.938 282 543 167 135 172 9.255 4477 chr1 155178782 155178782 A T rs760077 MTX1 Nonsynonymous SNV T63S 0.492 0.487 0.5 195 578 187 0.5 147 147 47 34 48 0.001 4478 chr11 20404613 20404613 T G rs3824886 HTATIP2 Nonsynonymous SNV S197R 0.94 0.958 0.939 359 1103 368 0.921 276 518 176 130 165 0.3 4479 chr1 155294274 155294274 A G rs914616 RUSC1 Synonymous SNV L22L 1 1 0.912 389 1174 384 0.997 268 587 192 133 194 9.493 4480 chr11 20529886 20529886 G A rs6483700 PRMT3 Nonsynonymous SNV S446N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.12 4481 chr1 155408635 155408635 T C rs4971053 ASH1L Nonsynonymous SNV T1771A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 5.166 4482 chr1 153580052 153580052 G A rs147357546 S100A16 Synonymous SNV I90I 0.009 0.013 0 3 11 5 0.008 0 0 2 0 0 12.49 4483 chr11 20622975 20622975 G A rs1443547 SLC6A5 Nonsynonymous SNV G102S 0.411 0.396 0.463 172 482 152 0.441 136 101 34 30 36 Benign 0.106 4484 chr1 153651911 153651911 C T rs1038572430 NPR1 Synonymous SNV N109N 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 13.8 4485 chr1 155837865 155837865 G C rs822522 SYT11 Nonsynonymous SNV Q48H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.605 4486 chr11 121456962 121456962 C T rs1699102 SORL1 Synonymous SNV N1246N 0.642 0.643 0.66 251 754 247 0.644 194 244 72 65 87 17.83 4487 chr11 20623042 20623042 T C rs1443548 SLC6A5 Nonsynonymous SNV F124S 0.791 0.797 0.789 314 929 306 0.805 232 367 122 90 131 Benign 8.102 4488 chr11 120998942 120998942 C T rs10502247 TECTA Synonymous SNV I752I 0.382 0.331 0.337 155 448 127 0.397 99 93 19 16 33 Benign 16.24 4489 chr1 155838267 155838267 T C rs822521 SYT11 Synonymous SNV H182H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.089 4490 chr11 20623156 20623156 C G rs1443549 SLC6A5 Nonsynonymous SNV A162G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 13.22 4491 chr1 155880573 155880573 C G rs493446 RIT1 Nonsynonymous SNV E11Q 0.878 0.896 0.891 338 1031 344 0.867 262 454 155 116 147 Benign 0.183 4492 chr11 121028877 121028877 G A rs377156351 TECTA Nonsynonymous SNV V1545I 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 Uncertain significance 27.1 4493 chr1 155912486 155912486 T C rs2152051 RXFP4 Nonsynonymous SNV L329S 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.09 4494 chr11 20639400 20639400 A G rs7925597 SLC6A5 Synonymous SNV S176S 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 Benign 9.095 4495 chr11 20673867 20673867 G A rs2276433 SLC6A5 Synonymous SNV E467E 0.431 0.464 0.48 175 506 178 0.449 141 105 40 32 37 Benign 9.258 4496 chr1 154315713 154315713 C G rs775174581 ATP8B2 Synonymous SNV A545A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 13.31 4497 chr11 113803104 113803104 G A rs2276305 HTR3B Synonymous SNV A143A 0.01 0.01 0.017 8 12 4 0.021 5 0 0 0 0 11.82 4498 chr1 156011444 156011444 T C rs2297792 UBQLN4 Nonsynonymous SNV I475M 0.608 0.615 0.639 236 714 236 0.605 188 242 78 58 73 Benign 16.48 4499 chr11 20805286 20805286 G A rs8176785 NELL1 Nonsynonymous SNV R82Q 0.847 0.82 0.813 317 994 315 0.813 239 421 129 95 128 23 4500 chr1 154316434 154316434 C T rs2274988 ATP8B2 Synonymous SNV Y627Y 0.153 0.146 0.105 65 180 56 0.167 31 13 2 2 5 6.823 4501 chr1 154320942 154320942 A G rs2297607 ATP8B2 Synonymous SNV T1093T 0.134 0.122 0.102 56 157 47 0.144 30 11 2 3 3 1.104 4502 chr1 156107534 156107534 C T rs4641 LMNA Synonymous SNV H454H 0.267 0.221 0.296 94 314 85 0.241 87 40 9 19 14 Benign 12.37 4503 chr11 21581805 21581805 C T rs8176789 NELL1 Synonymous SNV G562G 0.816 0.818 0.816 320 958 314 0.821 240 401 127 99 133 14.63 4504 chr11 114393119 114393119 G A rs77697681 NXPE1 Synonymous SNV F263F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.857 4505 chr11 2161858 2161858 A G rs3741212 IGF2-AS 0 0 0.714 0 0 0 0 210 0 0 74 0 2.329 4506 chr1 156146218 156146218 C T rs12401573 SEMA4A Synonymous SNV P440P 0.582 0.599 0.575 226 683 230 0.579 169 197 66 51 63 Benign 6.423 4507 chr11 2167543 2167543 T G rs1003483 IGF2-AS 0 0 0.435 0 0 0 0 128 0 0 24 0 7.588 4508 chr11 122795688 122795688 T C rs11218891 JHY Synonymous SNV D316D 0.303 0.286 0.306 102 356 110 0.262 90 52 15 10 15 6.059 4509 chr1 156233189 156233189 C T rs2273833 SMG5 Synonymous SNV A630A 0.266 0.24 0.248 93 312 92 0.238 73 45 8 11 14 18.74 4510 chr11 2167618 2167618 A G rs1003484 IGF2-AS 0 0 0.646 0 0 0 0 190 0 0 64 0 0.659 4511 chr1 156255456 156255456 G A rs6684514 TMEM79 Nonsynonymous SNV V147M 0.284 0.25 0.259 95 334 96 0.244 76 48 10 11 15 11.33 4512 chr11 2169014 2169014 A G rs10770125 INS-IGF2 Nonsynonymous SNV L144P 0.468 0.458 0.296 171 550 176 0.438 87 143 41 20 34 22.8 4513 chr1 156263940 156263940 T C rs10908495 GLMP Nonsynonymous SNV I137V 0.284 0.25 0.259 96 334 96 0.246 76 48 10 11 15 4.052 4514 chr11 2188218 2188218 G T rs768156758 TH Nonsynonymous SNV A247D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 4515 chr1 156264000 156264000 G A rs10908496 GLMP Nonsynonymous SNV P117S 0.284 0.25 0.259 95 334 96 0.244 76 48 10 11 15 12.48 4516 chr11 2188238 2188238 C T rs6357 TH Synonymous SNV K240K 0.184 0.18 0.228 73 216 69 0.187 67 17 8 7 7 Benign 10.71 4517 chr11 22242729 22242729 T C rs4312063 ANO5 Synonymous SNV D88D 0.773 0.784 0.769 297 908 301 0.762 226 346 121 87 110 Benign 0.091 4518 chr1 156264648 156264648 C T rs1570805 GLMP Nonsynonymous SNV V94I 0.085 0.109 0.092 45 100 42 0.115 27 6 1 1 3 22.9 4519 chr11 22646532 22646532 C T rs36045913 FANCF Synonymous SNV L275L 0.01 0 0.02 1 12 0 0.003 6 0 0 0 0 Benign 16.58 4520 chr11 22696451 22696451 A G rs922571 GAS2 Synonymous SNV G12G 0.7 0.661 0.704 249 822 254 0.638 207 284 80 74 78 8.262 4521 chr11 2323022 2323022 C T rs12276847 C11orf21 Nonsynonymous SNV V24M 0.383 0.427 0.405 141 450 164 0.362 119 90 34 22 27 0.126 4522 chr1 156347834 156347834 T A rs11586833 RHBG Nonsynonymous SNV V143D 0.3 0.292 0.276 120 352 112 0.308 81 58 16 13 19 27.4 4523 chr11 12316344 12316344 - CTC rs767104379 MICALCL P470_T471insP 0.106 0.102 0.02 27 125 39 0.069 6 8 2 0 1 4524 chr1 154842199 154842199 - GCTGCTGCTGCTGCT rs3831942 KCNN3 Q80_P81insQQQQQ 0.285 0.326 0.15 119 335 125 0.305 44 85 39 21 26 4525 chr11 12316344 12316344 - CTCCTC rs767104379 MICALCL P470_T471insPP 0.152 0.169 0.027 56 178 65 0.144 8 17 7 3 3 4526 chr11 2323029 2323029 T C rs756924 C11orf21 Nonsynonymous SNV T4A 0.928 0.938 0.935 357 1090 360 0.915 275 507 169 130 164 0.071 4527 chr1 154919080 154919080 C T rs2061690 PBXIP1 Nonsynonymous SNV G202D 0.485 0.477 0.476 198 569 183 0.508 140 144 40 31 52 8.561 4528 chr11 121425955 121425955 A T rs78274293 SORL1 Synonymous SNV T833T 0.082 0.07 0.058 22 96 27 0.056 17 6 0 1 0 0.016 4529 chr11 12316389 12316389 A C rs3812754 MICALCL Nonsynonymous SNV T471P 0.501 0.427 0.259 177 588 164 0.454 76 126 28 27 33 0.017 4530 chr1 156351699 156351699 G A rs3748569 RHBG Nonsynonymous SNV G315R 0.439 0.464 0.435 170 515 178 0.436 128 115 39 32 37 33 4531 chr11 2323089 2323089 C T rs188839109 C11orf21 Star tloss M1? 0.032 0.016 0.027 8 37 6 0.021 8 1 0 0 0 1.689 4532 chr11 123477352 123477352 G A rs2279519 GRAMD1B Synonymous SNV E270E 0.25 0.245 0.231 94 293 94 0.241 68 40 9 6 12 10.87 4533 chr1 154987526 154987526 C T rs11264295 ZBTB7B Synonymous SNV I130I 0.51 0.495 0.493 216 599 190 0.554 145 160 41 35 56 13.82 4534 chr1 156354367 156354367 A G rs6668857 RHBG Nonsynonymous SNV H428R 0.552 0.596 0.561 218 648 229 0.559 165 173 72 47 60 8.468 4535 chr11 2329995 2329995 C T rs11554947 TSPAN32 Synonymous SNV C103C 0.915 0.911 0.864 349 1074 350 0.895 254 492 159 116 157 7.607 4536 chr11 123480981 123480981 T C rs10893053 GRAMD1B Synonymous SNV H435H 0.259 0.26 0.238 101 304 100 0.259 70 43 10 6 16 4.367 4537 chr11 2339142 2339143 TC - rs779859900 TSPAN32 S319Rfs*60 0 0 0.007 0 0 0 0 2 0 0 0 0 4538 chr1 156446903 156446903 T C rs2274317 MEF2D Synonymous SNV P252P 0.7 0.677 0.731 277 822 260 0.71 215 284 84 78 101 10.18 4539 chr11 113857365 113857365 G A rs56232120 HTR3A Synonymous SNV K277K 0.016 0.031 0.024 13 19 12 0.033 7 0 1 0 0 13.63 4540 chr1 155006091 155006091 A G rs10908453 DCST2 Synonymous SNV G29G 0.38 0.38 0.35 158 446 146 0.405 103 81 22 19 26 0.01 4541 chr11 236091 236091 G A rs28365927 SIRT3 Nonsynonymous SNV R80W 0.153 0.096 0.177 52 180 37 0.133 52 21 1 3 1 23.9 4542 chr11 123598941 123598941 T C rs2282644 ZNF202 Synonymous SNV V20V 0.256 0.266 0.241 87 301 102 0.223 71 34 15 8 9 9.606 4543 chr1 156450740 156450740 G A rs1925950 MEF2D Synonymous SNV N94N 0.701 0.677 0.721 277 823 260 0.71 212 284 84 78 101 11.68 4544 chr1 155006999 155006999 C T rs6680600 DCST1 Synonymous SNV L50L 0.373 0.378 0.34 154 438 145 0.395 100 77 22 16 26 16.91 4545 chr1 156499969 156499969 T C rs1171566 IQGAP3 Synonymous SNV L1444L 0.353 0.378 0.34 127 415 145 0.326 100 74 22 21 20 4.246 4546 chr11 237087 237087 A G rs1045288 PSMD13 Nonsynonymous SNV N13S 0.693 0.669 0.728 282 814 257 0.723 214 296 89 74 100 1.609 4547 chr1 156518379 156518379 G A rs744224 IQGAP3 Nonsynonymous SNV R663C 0.275 0.255 0.262 106 323 98 0.272 77 47 8 11 15 12.96 4548 chr11 12183846 12183846 C T rs28625145 MICAL2 Synonymous SNV N48N 0.129 0.151 0.173 64 152 58 0.164 51 8 3 5 5 4.211 4549 chr11 2424684 2424684 A C rs2234283 TSSC4 Nonsynonymous SNV H274P 0.991 1 0.997 388 1163 384 0.995 293 577 192 146 193 0.002 4550 chr11 123676231 123676231 G T rs4936845 OR6M1 Nonsynonymous SNV T276K 0.29 0.279 0.269 94 341 107 0.241 79 47 15 7 10 25.1 4551 chr1 156526387 156526387 C G rs11264498 IQGAP3 Nonsynonymous SNV V410L 0.608 0.581 0.582 246 714 223 0.631 171 215 60 48 82 27 4552 chr1 155033918 155033918 C T rs41264285 ADAM15 Nonsynonymous SNV P769S 0.13 0.128 0.119 43 153 49 0.11 35 12 5 2 3 23.8 4553 chr11 2427291 2427291 A C rs800342 TRPM5 Synonymous SNV G1094G 0.858 0.87 0.888 346 1007 334 0.887 261 432 145 115 154 0.002 4554 chr11 2432666 2432666 C T rs34364959 TRPM5 Nonsynonymous SNV G900S 0.103 0.122 0.163 44 121 47 0.113 48 6 2 2 2 6.128 4555 chr1 156526444 156526444 T C rs2488269 IQGAP3 Nonsynonymous SNV R391G 0.997 0.997 0.997 384 1171 383 0.985 293 584 191 146 189 8.611 4556 chr11 122646936 122646936 C G rs34347341 UBASH3B Nonsynonymous SNV P21R 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 Benign 15.3 4557 chr11 12316344 12316344 - CTCCTCCTC MICALCL P470_T471insPPP 0.068 0.063 0.017 38 80 24 0.097 5 7 0 2 3 4558 chr11 116717136 116717136 G A rs150767868 SIK3 Synonymous SNV F1254F 0.006 0.003 0 0 7 1 0 0 0 0 0 0 13.07 4559 chr11 2432964 2432964 T C rs2074234 TRPM5 Synonymous SNV T836T 0.411 0.419 0.425 169 483 161 0.433 125 84 34 20 29 0.06 4560 chr1 156532977 156532977 T C rs1171547 IQGAP3 Synonymous SNV Q249Q 0.997 0.997 0.997 384 1171 383 0.985 293 584 191 146 189 0.211 4561 chr1 155161833 155161833 C G rs147687610 MUC1 Synonymous SNV S100S 0.052 0.049 0.024 17 61 19 0.044 7 1 1 0 0 8.365 4562 chr11 2435946 2435946 A G rs4929981 TRPM5 Synonymous SNV L581L 0.699 0.724 0.724 286 821 278 0.733 213 295 105 85 106 2.882 4563 chr11 123351589 123351589 C T rs17672334 GRAMD1B Nonsynonymous SNV A31V 0.022 0.01 0 4 26 4 0.01 0 0 0 0 0 16.57 4564 chr11 12315335 12315335 C A rs79609470 MICALCL Synonymous SNV A119A 0.053 0.039 0.037 17 62 15 0.044 11 2 0 0 0 10.73 4565 chr11 2435956 2435956 C T rs4929982 TRPM5 Nonsynonymous SNV R578Q 0.372 0.404 0.398 158 437 155 0.405 117 87 31 26 28 22.1 4566 chr1 156536221 156536221 G C rs2066377 IQGAP3 Synonymous SNV P81P 0.997 0.997 0.997 384 1171 383 0.985 293 584 191 146 189 7.748 4567 chr11 118773087 118773087 G A rs367909111 BCL9L Synonymous SNV P455P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.013 4568 chr11 119063908 119063908 C T rs2301574 CCDC153 Nonsynonymous SNV R101H 0.26 0.268 0.31 108 305 103 0.277 91 40 9 13 12 9.33 4569 chr1 156536251 156536251 T C rs947662 IQGAP3 Synonymous SNV L71L 0.997 0.997 0.997 384 1171 383 0.985 293 584 191 146 189 7.934 4570 chr11 2439542 2439542 A G rs3986599 TRPM5 Nonsynonymous SNV V254A 0.67 0.693 0.735 270 787 266 0.692 216 268 95 78 91 2.694 4571 chr1 156551848 156551848 A G rs6682716 TTC24 Nonsynonymous SNV E231G 0.677 0.664 0.65 268 795 255 0.687 191 277 85 65 95 20.7 4572 chr11 123777302 123777302 T G rs17127947 OR8D4 Nonsynonymous SNV L55R 0.237 0.266 0.235 94 278 102 0.241 69 30 13 6 15 25 4573 chr11 244106 244106 A G rs10902112 PSMD13 Nonsynonymous SNV E54G 0.693 0.672 0.721 286 813 258 0.733 212 294 87 74 100 0.008 4574 chr1 156556321 156556321 G A rs10796961 TTC24 Synonymous SNV S576S 0.928 0.888 0.922 359 1090 341 0.921 271 506 151 126 165 5.922 4575 chr11 117222655 117222655 A G CEP164 Nonsynonymous SNV K115R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.29 4576 chr11 123777412 123777412 A G rs17127950 OR8D4 Nonsynonymous SNV I92V 0.237 0.263 0.235 94 278 101 0.241 69 30 12 6 15 10.14 4577 chr11 118896430 118896430 G A rs191545031 SLC37A4 Nonsynonymous SNV A341V 0.012 0.013 0.003 3 14 5 0.008 1 0 0 0 0 21.7 4578 chr11 12315642 12315642 C T rs75952256 MICALCL Nonsynonymous SNV R222C 0.039 0.018 0.02 10 46 7 0.026 6 2 0 0 0 12.35 4579 chr11 244108 244108 A G rs7107362 PSMD13 Nonsynonymous SNV N55D 0.693 0.672 0.724 286 813 258 0.733 213 294 87 74 100 0.339 4580 chr1 155230131 155230131 C T rs1142287 SCAMP3 Synonymous SNV G100G 0.193 0.24 0.143 87 227 92 0.223 42 19 11 7 14 12.33 4581 chr1 156561651 156561651 G C rs7516274 NAXE Nonsynonymous SNV V19L 0.941 0.906 0.925 361 1105 348 0.926 272 522 158 127 168 6.545 4582 chr1 155260383 155260383 G T rs1052176 PKLR Synonymous SNV R569R 0.199 0.242 0.177 87 234 93 0.223 52 21 11 7 15 Benign 11.38 4583 chr11 117261853 117261853 C T rs494553 CEP164 Synonymous SNV S738S 0.039 0.039 0.065 20 46 15 0.051 19 1 0 1 2 Benign 11.2 4584 chr11 244115 244115 G A rs7128044 PSMD13 Nonsynonymous SNV C57Y 0.691 0.672 0.721 286 811 258 0.733 212 294 87 74 100 0.094 4585 chr1 155290231 155290231 T C rs41314549 FDPS Nonsynonymous SNV V193A 0.021 0.029 0.027 13 25 11 0.033 8 1 0 0 0 not provided 22.4 4586 chr1 156563726 156563726 A C rs6427322 NAXE Synonymous SNV I239I 0.943 0.909 0.929 362 1107 349 0.928 273 522 158 127 168 1.607 4587 chr11 123676525 123676525 A G rs770674742 OR6M1 Nonsynonymous SNV I178T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 12.94 4588 chr11 244129 244129 C T rs7116130 PSMD13 Nonsynonymous SNV R62W 0.693 0.674 0.718 286 813 259 0.733 211 296 89 74 100 16.97 4589 chr11 12316345 12316350 CTCCTC - rs3841216 MICALCL P469_P470del 0.053 0.042 0.02 17 62 16 0.044 6 2 0 0 0 4590 chr1 156563813 156563813 G A rs6668178 NAXE Synonymous SNV E268E 0.943 0.909 0.929 362 1107 349 0.928 273 522 158 127 168 Pathogenic 12.64 4591 chr11 244141 244141 G A rs7128029 PSMD13 Nonsynonymous SNV A66T 0.693 0.677 0.724 285 813 260 0.731 213 296 89 74 99 9.515 4592 chr11 12316350 12316350 - CTCCTC MICALCL P470_T471insPP 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 4593 chr1 156563852 156563852 C T rs942963 NAXE Synonymous SNV T281T 0.943 0.909 0.929 362 1107 349 0.928 273 522 158 127 168 17.49 4594 chr11 244167 244167 C T rs1128320 PSMD13 Synonymous SNV N74N 0.691 0.661 0.728 285 811 254 0.731 214 294 87 74 99 12.75 4595 chr11 118983434 118983434 C T rs2239896 C2CD2L Nonsynonymous SNV R413W 0.066 0.065 0.065 33 78 25 0.085 19 1 0 1 3 26.2 4596 chr1 156565049 156565049 - AC rs10637036 GPATCH4 Frameshift insertion F362Vfs*91 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 4597 chr11 244171 244171 T C rs1128321 PSMD13 Synonymous SNV L76L 0.69 0.664 0.724 285 810 255 0.731 213 294 87 74 99 4.243 4598 chr1 155735012 155735012 T C rs2297775 GON4L Nonsynonymous SNV M1418V 0.21 0.276 0.231 88 246 106 0.226 68 29 17 8 11 0.002 4599 chr11 123513161 123513161 G A rs1275085 SCN3B Synonymous SNV T146T 0.11 0.078 0.119 57 129 30 0.146 35 4 2 3 2 Benign 11.94 4600 chr1 156565277 156565277 C G rs202045380 GPATCH4 Nonsynonymous SNV E286Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.34 4601 chr11 244197 244197 T C rs1128322 PSMD13 Synonymous SNV H84H 0.681 0.656 0.728 284 799 252 0.728 214 295 89 74 99 2.643 4602 chr11 123777861 123777861 T C rs61748875 OR8D4 Synonymous SNV C241C 0.237 0.263 0.235 93 278 101 0.238 69 31 12 6 15 0.17 4603 chr11 118984385 118984385 G C rs142761984 C2CD2L Nonsynonymous SNV E484D 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 2.533 4604 chr11 25098938 25098938 G C rs7930185 LUZP2 Nonsynonymous SNV E266Q 0.411 0.378 0.398 153 482 145 0.392 117 97 31 23 33 11.28 4605 chr1 156622252 156622252 G A rs1056695 BCAN Nonsynonymous SNV E504K 0.422 0.43 0.412 148 495 165 0.379 121 107 37 21 30 9.231 4606 chr11 123624658 123624658 G T rs12364099 OR6X1 Nonsynonymous SNV T190N 0.217 0.198 0.18 65 255 76 0.167 53 26 7 5 7 14.36 4607 chr11 26586801 26586801 G A rs15783 MUC15 Nonsynonymous SNV T202I 0.66 0.641 0.643 240 775 246 0.615 189 255 77 62 72 23.2 4608 chr11 117391966 117391966 G A rs2276340 DSCAML1 Synonymous SNV R364R 0.157 0.128 0.184 51 184 49 0.131 54 13 3 6 5 14.82 4609 chr1 156639753 156639753 G A rs11582300 NES Synonymous SNV S1409S 0.615 0.583 0.646 229 722 224 0.587 190 217 68 57 64 14.17 4610 chr11 26587133 26587133 T C rs293980 MUC15 Synonymous SNV S91S 0.738 0.711 0.704 278 866 273 0.713 207 325 95 72 96 0.392 4611 chr1 156640156 156640156 G A rs3748570 NES Nonsynonymous SNV P1275L 0.649 0.612 0.684 241 762 235 0.618 201 243 74 66 72 9.401 4612 chr11 26656563 26656563 C T rs7946841 ANO3 Synonymous SNV F517F 0.369 0.406 0.429 147 433 156 0.377 126 78 28 26 23 17.52 4613 chr11 26677947 26677947 C T rs10835051 ANO3 Synonymous SNV P748P 0.645 0.677 0.65 263 757 260 0.674 191 239 84 62 81 14.22 4614 chr11 123676413 123676413 G A rs7952150 OR6M1 Synonymous SNV Y215Y 0.237 0.211 0.231 66 278 81 0.169 68 30 8 6 7 0.19 4615 chr1 156640678 156640678 G A rs2886443 NES Nonsynonymous SNV P1101L 0.529 0.508 0.592 211 621 195 0.541 174 223 67 61 70 1.398 4616 chr11 26694979 26694979 A G rs4369354 SLC5A12 Synonymous SNV C559C 0.474 0.503 0.514 191 556 193 0.49 151 126 44 35 38 5.127 4617 chr11 26702664 26702664 C T rs10734383 SLC5A12 Synonymous SNV L471L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.42 4618 chr11 26705310 26705310 A G rs3924551 SLC5A12 Synonymous SNV N434N 0.583 0.622 0.609 220 685 239 0.564 179 208 74 57 58 8.121 4619 chr11 123865086 123865086 A C rs7944434 OR10G6 Synonymous SNV T261T 0.83 0.857 0 328 974 329 0.841 0 401 140 0 139 0.029 4620 chr1 156641537 156641537 C T rs951781 NES Nonsynonymous SNV V815I 0.343 0.38 0.303 137 403 146 0.351 89 65 30 9 23 1.771 4621 chr11 26734209 26734209 C T rs10742156 SLC5A12 Synonymous SNV T128T 0.958 0.979 0.949 380 1125 376 0.974 279 541 184 132 185 18.8 4622 chr11 123865305 123865305 G A rs10790622 OR10G6 Synonymous SNV P188P 0.233 0.25 0 87 273 96 0.223 0 33 15 0 9 6.979 4623 chr11 123753958 123753958 C T rs35551906 TMEM225 Nonsynonymous SNV E189K 0.072 0.078 0.075 28 84 30 0.072 22 2 2 2 1 0.002 4624 chr11 2683152 2683152 T G rs739502 KCNQ1OT1 0.072 0.073 0.065 37 84 28 0.095 19 8 0 0 2 9.005 4625 chr11 123886307 123886307 C T rs79057843 OR10G4 Nonsynonymous SNV A9V 0.545 0.539 0.52 213 640 207 0.546 153 163 56 36 58 1.603 4626 chr1 156646668 156646668 A G rs4278369 NES Nonsynonymous SNV V130A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.004 4627 chr11 123847473 123847473 A G rs55944888 OR10S1 Nonsynonymous SNV V309A 0.248 0.229 0.201 94 291 88 0.241 59 34 6 7 11 16.48 4628 chr11 2683357 2683357 A G rs760419 KCNQ1OT1 0.353 0.326 0.33 156 415 125 0.4 97 81 18 16 25 0.77 4629 chr11 117281566 117281566 C T rs73016324 CEP164 Synonymous SNV N1368N 0.037 0.042 0.027 18 43 16 0.046 8 0 1 1 1 Benign 2.927 4630 chr1 156023402 156023402 G T rs149317680 UBQLN4 Synonymous SNV R31R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.36 4631 chr11 27077118 27077118 C T rs10767598 BBOX1 Synonymous SNV S47S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 18.3 4632 chr11 117869878 117869878 C T rs2229114 IL10RA Nonsynonymous SNV S420L 0.071 0.068 0.068 20 83 26 0.051 20 1 2 1 0 Benign 13.18 4633 chr1 156035717 156035717 A G rs61751627 RAB25 Nonsynonymous SNV E20G 0.02 0.026 0.014 12 23 10 0.031 4 0 0 0 0 32 4634 chr11 27148847 27148847 G A rs77035197 BBOX1 Synonymous SNV V337V 0.067 0.06 0.095 22 79 23 0.056 28 6 1 1 0 12.06 4635 chr1 156705593 156705593 G C rs4311877 RRNAD1 Nonsynonymous SNV R238P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.88 4636 chr11 119077232 119077232 - CAC rs397507488 CBL H42_L43insH 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 4637 chr11 27390089 27390089 T C rs2447997 LGR4 Synonymous SNV K703K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.051 4638 chr11 123886681 123886681 A G rs1893766 OR10G4 Nonsynonymous SNV M134V 0.552 0.542 0.527 215 648 208 0.551 155 166 56 38 60 0.002 4639 chr1 156737969 156737969 C T rs11264542 PRCC Nonsynonymous SNV P136S 0.169 0.148 0.18 60 198 57 0.154 53 13 6 5 1 18.1 4640 chr11 27406844 27406844 G A rs6484295 LGR4 Synonymous SNV S167S 0.347 0.279 0.32 143 407 107 0.367 94 75 17 13 26 12.27 4641 chr11 27679662 27679662 T C rs2353512 BDNF Synonymous SNV A150A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.009 4642 chr11 120317719 120317719 G A rs755767727 ARHGEF12 Nonsynonymous SNV R486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 4643 chr1 156784982 156784982 T C rs926103 SH2D2A Nonsynonymous SNV N24S 0.667 0.612 0.571 264 783 235 0.677 168 268 62 53 90 0.001 4644 chr1 156202173 156202173 A G rs1052053 PMF1, PMF1-BGLAP Nonsynonymous SNV Q75R 0.342 0.362 0.33 146 402 139 0.374 97 66 28 22 27 0.605 4645 chr11 280221 280221 A C rs6421985 NLRP6 Nonsynonymous SNV M163L 0.865 0.883 0.85 341 1016 339 0.874 250 438 154 105 147 0.002 4646 chr1 156848995 156848995 C T rs6337 NTRK1 Synonymous SNV A623A 0.651 0.615 0.663 260 764 236 0.667 195 258 69 68 83 Benign 17.61 4647 chr11 280464 280464 C G rs77447196 NLRP6 Nonsynonymous SNV P244A 0.141 0.159 0.15 59 166 61 0.151 44 16 4 3 1 0.005 4648 chr1 156206121 156206121 G A rs1052067 PMF1, PMF1-BGLAP Nonsynonymous SNV M68I 0.239 0.258 0.224 104 281 99 0.267 66 33 15 11 14 12.5 4649 chr11 123886984 123886984 A G rs4936880 OR10G4 Nonsynonymous SNV R235G 0.553 0.542 0.527 215 649 208 0.551 155 167 56 38 60 26.2 4650 chr11 124056377 124056377 T C rs2512228 OR10D3 Nonsynonymous SNV V134A 0.583 0.542 0.636 224 685 208 0.574 187 188 59 59 66 1.38 4651 chr1 156877457 156877457 T C rs1952294 PEAR1 Nonsynonymous SNV S234P 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 11.15 4652 chr11 28057957 28057957 T C rs10458896 KIF18A Nonsynonymous SNV I735V 0.305 0.286 0.306 120 358 110 0.308 90 51 17 16 19 0.002 4653 chr11 119215046 119215046 C T rs35885438 MFRP Synonymous SNV L318L 0.066 0.083 0.031 38 78 32 0.097 9 2 1 0 0 Likely benign 10.99 4654 chr1 156213921 156213921 C T rs7513351 PAQR6 Nonsynonymous SNV E123K 0.17 0.174 0.241 64 200 67 0.164 71 23 4 6 6 19.77 4655 chr11 123887164 123887164 A C rs4936881 OR10G4 Nonsynonymous SNV K295Q 0.553 0.542 0.527 216 649 208 0.554 155 167 56 38 60 22.5 4656 chr11 124056566 124056566 G A rs7937809 OR10D3 Nonsynonymous SNV R197K 0.395 0.362 0.442 144 464 139 0.369 130 96 27 28 26 6.416 4657 chr11 117864063 117864063 A G rs3135932 IL10RA Nonsynonymous SNV S159G 0.106 0.117 0.126 35 124 45 0.09 37 7 5 0 1 Benign/Likely benign 11.09 4658 chr1 156883546 156883546 A G rs12137505 PEAR1 Nonsynonymous SNV N903D 0.372 0.372 0.391 142 437 143 0.364 115 87 28 25 28 0.01 4659 chr11 280673 280673 C T rs12807092 NLRP6 Synonymous SNV S313S 0.782 0.797 0.806 297 918 306 0.762 237 359 128 94 110 8.904 4660 chr11 124056732 124056732 T G rs2512227 OR10D3 Stop gain Y252X 0.583 0.542 0.636 224 685 208 0.574 187 188 59 59 66 35 4661 chr11 280816 280816 A T rs7482965 NLRP6 Nonsynonymous SNV Y361F 0.861 0.88 0.85 336 1011 338 0.862 250 433 152 105 142 0.015 4662 chr1 156902259 156902259 G A rs822430 LRRC71 Synonymous SNV T495T 0.52 0.544 0.476 208 611 209 0.533 140 160 57 42 54 6.518 4663 chr11 123894119 123894119 A G rs12366219 OR10G9 Nonsynonymous SNV M134V 0.494 0.477 0.449 187 580 183 0.479 132 132 44 31 44 Benign 0.001 4664 chr11 124056787 124056787 G A rs2512226 OR10D3 Nonsynonymous SNV V271M 0.583 0.542 0.636 224 685 208 0.574 187 188 59 59 66 0.002 4665 chr1 156907081 156907081 T C rs945508 ARHGEF11 Nonsynonymous SNV H1427R 0.538 0.56 0.548 210 632 215 0.538 161 173 61 47 55 0.01 4666 chr11 280817 280817 T C rs7482279 NLRP6 Synonymous SNV Y361Y 0.861 0.88 0.85 336 1011 338 0.862 250 433 152 105 142 0.001 4667 chr11 284257 284257 G A rs11246050 NLRP6 Synonymous SNV A742A 0.145 0.174 0.15 57 170 67 0.146 44 14 6 6 3 8.955 4668 chr11 121038810 121038810 C T rs2155369 TECTA Synonymous SNV S1878S 0.227 0.193 0.16 85 267 74 0.218 47 36 6 2 10 Benign 17.92 4669 chr11 2869188 2869188 C T rs11601907 KCNQ1 Synonymous SNV Y662Y 0.233 0.219 0.167 90 273 84 0.231 49 21 9 3 11 Benign 10.58 4670 chr1 156907115 156907115 T C rs868188 ARHGEF11 Nonsynonymous SNV S1416G 0.31 0.328 0.306 130 364 126 0.333 90 64 17 16 18 0.299 4671 chr11 290816 290816 A G rs10902120 PGGHG Synonymous SNV A203A 0.789 0.815 0.847 320 926 313 0.821 249 364 133 107 133 0.162 4672 chr11 123894339 123894339 C T rs12363627 OR10G9 Nonsynonymous SNV S207L 0.034 0.021 0.02 13 40 8 0.033 6 0 0 0 0 0.031 4673 chr11 2920666 2920666 C T rs365605 SLC22A18AS Nonsynonymous SNV G89D 0.646 0.643 0.643 252 758 247 0.646 189 238 83 62 82 1.411 4674 chr1 157062696 157062696 G T rs1176537 ETV3L Synonymous SNV L277L 0.41 0.391 0.425 151 481 150 0.387 125 117 36 26 29 2.2 4675 chr11 123909627 123909627 T C rs11219420 OR10G7 Nonsynonymous SNV I28V 0.521 0.508 0.5 200 612 195 0.513 147 147 48 36 50 0.001 4676 chr1 156347131 156347131 G A rs2245623 RHBG Nonsynonymous SNV G76D 0.422 0.396 0.429 160 496 152 0.41 126 100 33 26 31 29.5 4677 chr1 157556159 157556159 C T rs142198646 FCRL4 Nonsynonymous SNV V312M 0 0 0 3 0 0 0.008 0 0 0 0 0 8.064 4678 chr11 2929552 2929552 A G rs429886 SLC22A18 Synonymous SNV V163V 0.777 0.771 0.748 294 912 296 0.754 220 347 112 85 114 1.179 4679 chr11 293188 293188 T C rs12801980 PGGHG Synonymous SNV H432H 0.335 0.336 0.333 132 393 129 0.338 98 70 26 15 23 0.003 4680 chr11 299411 299411 C G rs57285449 IFITM5 Nonsynonymous SNV G27A 0.332 0.271 0.367 104 390 104 0.267 108 68 15 22 14 Benign 1.445 4681 chr11 123909637 123909637 G T rs4936889 OR10G7 Synonymous SNV P24P 0.534 0.526 0.51 213 627 202 0.546 150 158 51 36 56 0.003 4682 chr11 124134743 124134743 G A rs2466637 OR8G5 Synonymous SNV G7G 0.512 0.497 0.517 197 601 191 0.505 152 164 47 40 47 1.13 4683 chr1 157557701 157557701 G A rs2777962 FCRL4 Synonymous SNV D172D 0.433 0.422 0.405 172 508 162 0.441 119 102 33 29 35 2.014 4684 chr11 124135009 124135009 G A rs2512168 OR8G5 Nonsynonymous SNV C96Y 0.518 0.5 0.52 197 608 192 0.505 153 165 47 40 47 0.003 4685 chr11 3129027 3129027 G A rs3741350 OSBPL5 Synonymous SNV T212T 0.426 0.43 0.429 184 500 165 0.472 126 112 43 26 39 9.34 4686 chr1 157559122 157559122 C T rs11582663 FCRL4 Nonsynonymous SNV R60Q 0.115 0.099 0.071 56 135 38 0.144 21 10 2 0 1 0.19 4687 chr11 31327316 31327316 C T rs2616815 DCDC1 Synonymous SNV E200E 0.717 0.755 0.731 309 842 290 0.792 215 301 108 76 118 9.27 4688 chr11 124135438 124135438 G A rs2512167 OR8G5 Nonsynonymous SNV G239E 0.517 0.5 0.517 197 607 192 0.505 152 164 47 40 47 6.897 4689 chr11 123901027 123901027 A G rs148074790 OR10G8 Nonsynonymous SNV K233R 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 0.005 4690 chr11 314207 314207 C G rs9667990 IFITM1 Nonsynonymous SNV P13A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 4691 chr11 124135481 124135481 C T rs2466701 OR8G5 Synonymous SNV Y253Y 0.517 0.5 0.52 197 607 192 0.505 153 164 47 40 47 0.091 4692 chr1 157668390 157668390 T C rs7522061 FCRL3 Nonsynonymous SNV N28D 0.431 0.417 0.425 160 506 160 0.41 125 106 32 31 35 0.001 4693 chr11 124179835 124179835 C T rs4936918 OR8D1 Synonymous SNV V276V 0.411 0.378 0.432 142 482 145 0.364 127 104 28 27 24 7.196 4694 chr11 31814879 31814879 G A rs3026384 PAX6 Nonsynonymous SNV S380L 0.293 0.323 0.316 101 344 124 0.259 93 48 18 23 11 Benign 0.702 4695 chr11 124056581 124056581 A G rs2466584 OR10D3 Nonsynonymous SNV N202S 0.187 0.182 0.194 81 220 70 0.208 57 18 7 6 5 11.81 4696 chr11 32124978 32124978 T C rs4876 RCN1 Synonymous SNV H280H 0.521 0.542 0.514 229 612 208 0.587 151 156 60 38 69 4.808 4697 chr11 124180082 124180082 A G rs4936919 OR8D1 Nonsynonymous SNV L194P 0.409 0.375 0.432 143 480 144 0.367 127 102 27 27 25 22.4 4698 chr1 157768000 157768000 G C rs3811024 FCRL1 Synonymous SNV T316T 0.206 0.167 0.224 76 242 64 0.195 66 24 4 7 4 0.078 4699 chr11 3242957 3242957 G A rs79606774 MRGPRG-AS1 0 0 0.027 0 0 0 0 8 0 0 1 0 1.29 4700 chr1 157771880 157771880 C T rs4971154 FCRL1 Synonymous SNV P237P 0.543 0.534 0.51 212 637 205 0.544 150 171 54 35 56 7.194 4701 chr11 32456298 32456298 G A rs2234583 WT1 Synonymous SNV N203N 0.087 0.099 0.095 32 102 38 0.082 28 5 3 1 0 Benign/Likely benign 14.87 4702 chr11 124180282 124180282 A C rs7107539 OR8D1 Nonsynonymous SNV C127W 0.411 0.378 0.429 143 482 145 0.367 126 104 28 27 25 22.5 4703 chr1 158324425 158324425 A G rs1065457 CD1E Nonsynonymous SNV Q106R 0.418 0.414 0.374 167 491 159 0.428 110 99 32 17 33 0.001 4704 chr11 32456694 32456694 C A rs2234582 WT1 Synonymous SNV P71P 0.261 0.276 0.241 96 307 106 0.246 71 40 12 9 11 Benign 14.03 4705 chr11 32460227 32460227 C T rs7120686 WT1-AS 0 0 0.401 0 0 0 0 118 0 0 23 0 10.7 4706 chr1 156502870 156502870 C T rs4661044 IQGAP3 Synonymous SNV T1335T 0.053 0.086 0.058 17 62 33 0.044 17 2 2 1 0 14.25 4707 chr11 124412838 124412838 C T rs61747005 OR8B12 Nonsynonymous SNV S238N 0.032 0.026 0.034 20 38 10 0.051 10 0 0 1 1 19.76 4708 chr11 32460464 32460464 G A rs6508 WT1-AS 0 0 0.099 0 0 0 0 29 0 0 1 0 6.936 4709 chr1 158368541 158368541 A G rs34465440 OR10T2 Nonsynonymous SNV V239A 0.371 0.396 0.388 159 436 152 0.408 114 74 29 19 25 10.18 4710 chr11 124006972 124006972 G T rs2276054 VWA5A Nonsynonymous SNV S499I 0.131 0.128 0.136 70 154 49 0.179 40 11 0 1 4 10.07 4711 chr11 32460575 32460575 T C rs11031784 WT1-AS 0 0 0.303 0 0 0 0 89 0 0 14 0 6.778 4712 chr11 32460624 32460624 G C rs3087923 WT1-AS 0 0 0.248 0 0 0 0 73 0 0 10 0 6.944 4713 chr1 158368846 158368846 T C rs6662382 OR10T2 Nonsynonymous SNV I137M 0.371 0.396 0.388 158 436 152 0.405 114 74 29 19 25 0.002 4714 chr11 124006993 124006993 G A rs2276053 VWA5A Nonsynonymous SNV R506K 0.129 0.128 0.133 70 151 49 0.179 39 11 0 1 4 0.001 4715 chr11 119044535 119044535 C G rs150153921 NLRX1 Nonsynonymous SNV L193V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24 4716 chr11 3249253 3249253 G A rs34515898 MRGPRE Synonymous SNV A259A 0.064 0.047 0.041 20 75 18 0.051 12 3 1 1 0 7.367 4717 chr11 118355642 118355642 A C rs9332801 KMT2A Synonymous SNV I1428I 0.048 0.052 0.048 27 56 20 0.069 14 0 0 0 1 Benign 4.336 4718 chr11 3249829 3249829 G A rs11026040 MRGPRE Synonymous SNV C67C 0.149 0.13 0.139 47 175 50 0.121 41 12 3 1 1 7.939 4719 chr1 158368964 158368964 C T rs61818749 OR10T2 Nonsynonymous SNV C98Y 0.152 0.143 0.116 75 178 55 0.192 34 14 6 2 6 25.3 4720 chr11 32852167 32852167 C T rs61889489 PRRG4 Nonsynonymous SNV A31V 0.041 0.055 0.048 19 48 21 0.049 14 3 0 0 0 9.315 4721 chr11 118368665 118368665 A G rs7107305 KMT2A Synonymous SNV L1893L 0.048 0.052 0.048 27 56 20 0.069 14 0 0 0 1 Benign 8.556 4722 chr11 123476158 123476158 C G rs140366389 GRAMD1B Nonsynonymous SNV S249C 0.008 0.005 0 6 9 2 0.015 0 0 0 0 0 25.6 4723 chr11 118373861 118373861 C T rs2071702 KMT2A Synonymous SNV N2418N 0.051 0.052 0.048 27 60 20 0.069 14 0 0 0 1 Benign 11.07 4724 chr11 124509710 124509710 A G rs35451312 SIAE Synonymous SNV R340R 0.008 0.008 0.007 11 9 3 0.028 2 0 0 0 1 Benign 11.51 4725 chr1 158368974 158368974 A G rs61818750 OR10T2 Nonsynonymous SNV F95L 0.152 0.143 0.119 75 178 55 0.192 35 14 6 2 6 0.017 4726 chr11 32954344 32954344 G A rs1022586 QSER1 Nonsynonymous SNV V514I 0.998 1 0.997 388 1172 384 0.995 293 585 192 146 193 0.013 4727 chr11 120686116 120686116 G A rs201218411 GRIK4 Nonsynonymous SNV A93T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 4728 chr11 118402962 118402962 G T rs45558732 TMEM25 Synonymous SNV G56G 0.024 0.029 0.01 9 28 11 0.023 3 0 0 0 0 6.021 4729 chr11 124744005 124744005 C T rs77513537 ROBO3 Synonymous SNV G608G 0.055 0.049 0.071 32 64 19 0.082 21 1 1 2 1 Benign 13.29 4730 chr11 124135215 124135215 T G rs11219544 OR8G5 Nonsynonymous SNV L165V 0.032 0.016 0.037 11 37 6 0.028 11 0 0 0 0 17.59 4731 chr11 32956244 32956244 A G rs7940077 QSER1 Nonsynonymous SNV N1147S 0.998 1 0.997 388 1172 384 0.995 293 585 192 146 193 0.007 4732 chr1 158369064 158369064 A G rs41488350 OR10T2 Nonsynonymous SNV F65L 0.152 0.143 0.119 74 178 55 0.19 35 14 6 2 6 11.13 4733 chr11 124135677 124135677 A G rs10893192 OR8G5 Nonsynonymous SNV M319V 0.032 0.016 0.037 11 37 6 0.028 11 0 0 0 0 15.79 4734 chr11 124761326 124761326 C T rs149507368 ROBO4 Nonsynonymous SNV R461H 0.009 0.005 0 7 11 2 0.018 0 0 0 0 0 Likely benign 8.186 4735 chr11 32956620 32956620 A G rs7481878 QSER1 Synonymous SNV P1272P 0.818 0.852 0.796 319 960 327 0.818 234 395 139 93 127 0.476 4736 chr11 124189306 124189306 G A rs2466620 OR8D2 Nonsynonymous SNV P263L 0.189 0.185 0.197 82 222 71 0.21 58 18 7 6 5 21.7 4737 chr1 156553232 156553232 C - rs140853435 TTC24 Q382Sfs*21 0.055 0.086 0.068 23 64 33 0.059 20 1 1 1 1 4738 chr1 158577167 158577167 A T rs2427808 OR10Z1 Synonymous SNV G313G 0.129 0.141 0.129 52 151 54 0.133 38 7 4 3 2 0.002 4739 chr11 33053107 33053107 C T rs966191 DEPDC7 Synonymous SNV D322D 0.366 0.435 0.408 147 430 167 0.377 120 81 34 27 31 8.411 4740 chr1 158582646 158582646 T C rs2251969 SPTA1 Synonymous SNV A2365A 0.545 0.56 0.588 224 640 215 0.574 173 176 59 53 71 Benign 4.573 4741 chr11 124189729 124189729 C T rs2512219 OR8D2 Nonsynonymous SNV R122H 0.189 0.185 0.197 82 222 71 0.21 58 18 7 6 5 22.5 4742 chr11 33065394 33065394 C T rs1064005 TCP11L1 Synonymous SNV L25L 0.37 0.438 0.405 151 434 168 0.387 119 84 33 27 31 16.24 4743 chr1 158584091 158584091 A G rs952094 SPTA1 Nonsynonymous SNV I2265T 0.535 0.555 0.463 224 628 213 0.574 136 177 59 49 71 Benign 0.059 4744 chr11 33076191 33076191 T C rs2273544 TCP11L1 Synonymous SNV G72G 0.714 0.737 0.711 290 838 283 0.744 209 292 99 75 109 0.106 4745 chr11 33564123 33564123 T C rs2076623 KIAA1549L Synonymous SNV G338G 0.621 0.641 0.629 237 729 246 0.608 185 227 79 52 69 0.03 4746 chr11 124095884 124095884 A G rs2466614 OR8G2P Nonsynonymous SNV I163V 0.102 0.12 0.085 53 120 46 0.136 25 3 3 1 4 0.977 4747 chr1 158589105 158589105 T C rs138055271 SPTA1 Nonsynonymous SNV Q2146R 0.028 0.016 0.024 14 33 6 0.036 7 1 0 0 0 Conflicting interpretations of pathogenicity 23.8 4748 chr11 33604885 33604885 C T rs2273117 KIAA1549L Synonymous SNV P1468P 0.193 0.206 0.18 67 227 79 0.172 53 19 11 5 5 15.06 4749 chr11 1248087 1248087 G A rs56293203 MUC5B Nonsynonymous SNV V148I 0.021 0.026 0.024 7 25 10 0.018 7 0 0 0 0 Benign 0.104 4750 chr11 33604960 33604960 C T rs2273115 KIAA1549L Synonymous SNV I1493I 0.195 0.203 0.197 66 229 78 0.169 58 19 10 5 5 14.07 4751 chr11 124096275 124096275 T C rs2512268 OR8G2P Nonsynonymous SNV I293T 0.103 0.12 0.085 53 121 46 0.136 25 3 3 1 4 0.17 4752 chr1 158607935 158607935 T G rs857725 SPTA1 Nonsynonymous SNV K1693Q 0.279 0.286 0.299 107 328 110 0.274 88 53 18 12 16 Conflicting interpretations of pathogenicity 0.007 4753 chr11 118827925 118827925 G A rs113048801 UPK2 Synonymous SNV T72T 0.023 0.016 0.02 3 27 6 0.008 6 0 0 0 0 8.085 4754 chr11 33640104 33640104 A C rs768474 KIAA1549L Synonymous SNV R1769R 0.653 0.638 0.619 264 767 245 0.677 182 240 79 55 88 0.63 4755 chr11 124096277 124096277 G A rs2466612 OR8G2P Nonsynonymous SNV V294I 0.103 0.12 0.085 53 121 46 0.136 25 3 3 1 4 0.083 4756 chr11 33667333 33667333 A G rs1033543 KIAA1549L Synonymous SNV T1837T 0.585 0.586 0.595 237 687 225 0.608 175 201 64 50 70 0.211 4757 chr11 123777625 123777625 A G OR8D4 Nonsynonymous SNV I163V 0 0 0 0 0 0 0 0 0 0 0 0 0.026 4758 chr11 33721936 33721936 C T rs138952615 C11orf91 Synonymous SNV E117E 0.014 0.021 0.024 8 16 8 0.021 7 0 0 0 0 10.72 4759 chr1 158612236 158612236 A G rs863931 SPTA1 Nonsynonymous SNV C1568R 0.593 0.602 0.633 245 696 231 0.628 186 205 71 63 81 Benign 0.004 4760 chr11 33881016 33881016 T C rs3740617 LMO2 Synonymous SNV K121K 0.649 0.651 0.66 229 762 250 0.587 194 258 86 64 64 0.879 4761 chr11 124489274 124489274 A G rs35569094 PANX3 Nonsynonymous SNV T208A 0.018 0.01 0.014 6 21 4 0.015 4 0 0 0 0 9.12 4762 chr11 118890022 118890022 C T rs3802881 TRAPPC4 Nonsynonymous SNV S44F 0.072 0.073 0.065 16 84 28 0.041 19 3 1 0 1 16.22 4763 chr1 156565170 156565170 T G rs34823415 GPATCH4 Synonymous SNV A321A 0.055 0.089 0.054 23 64 34 0.059 16 1 1 1 1 7.565 4764 chr1 158619728 158619728 A C rs2482965 SPTA1 Nonsynonymous SNV S1163A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 2.956 4765 chr11 34139806 34139806 G A rs200281086 NAT10 Nonsynonymous SNV V141I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 4766 chr11 124863136 124863136 C A rs7951202 CCDC15 Synonymous SNV P737P 0.22 0.263 0.255 101 258 101 0.259 75 30 15 11 11 11.41 4767 chr1 156565218 156565218 C T rs35613498 GPATCH4 Synonymous SNV E305E 0.055 0.089 0.058 23 64 34 0.059 17 1 1 1 1 17.03 4768 chr11 124624150 124624150 G A rs12792040 ESAM Nonsynonymous SNV R273C 0.069 0.112 0.048 31 81 43 0.079 14 2 2 1 3 28.9 4769 chr11 124908352 124908352 T C rs7107487 CCDC15 Nonsynonymous SNV C813R 0.135 0.177 0.068 67 159 68 0.172 20 13 4 4 7 9.83 4770 chr1 156568252 156568252 A G rs11264505 GPATCH4 Synonymous SNV T43T 0.055 0.089 0.068 23 64 34 0.059 20 1 1 1 1 9.119 4771 chr1 158637728 158637728 T C rs148912436 SPTA1 Nonsynonymous SNV Y653C 0.021 0.016 0.024 14 25 6 0.036 7 1 0 0 0 Conflicting interpretations of pathogenicity 24.2 4772 chr11 34152939 34152939 T C rs2957516 NAT10 Nonsynonymous SNV Y389H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.25 4773 chr11 124135662 124135662 A G rs2512166 OR8G5 Nonsynonymous SNV T314A 0.1 0.115 0.085 51 117 44 0.131 25 0 1 1 2 9.413 4774 chr11 34154641 34154641 C T rs2957518 NAT10 Synonymous SNV P490P 0.946 0.956 0.932 372 1111 367 0.954 274 528 175 129 177 Benign 14.72 4775 chr1 158647495 158647495 A T rs325996 SPTA1 Synonymous SNV A314A 1 0.997 0.983 388 1174 383 0.995 289 587 191 142 193 Benign 1.215 4776 chr11 34909926 34909926 T G rs1571133 APIP Synonymous SNV T125T 0.643 0.628 0.588 259 755 241 0.664 173 255 74 51 85 9.248 4777 chr1 158647522 158647522 A G rs703121 SPTA1 Synonymous SNV S305S 0.556 0.531 0.616 219 653 204 0.562 181 182 54 58 60 Benign 11.71 4778 chr11 124135140 124135140 C T rs62622835 OR8G5 Nonsynonymous SNV L140F 0.015 0.016 0.007 7 18 6 0.018 2 0 0 0 0 9.796 4779 chr11 34916657 34916657 C T rs61734605 APIP Nonsynonymous SNV D20N 0.296 0.292 0.282 111 347 112 0.285 83 45 12 9 15 23.7 4780 chr1 158655036 158655036 G A rs435080 SPTA1 Synonymous SNV V42V 1 0.997 0.99 388 1174 383 0.995 291 587 191 144 193 Benign 14.26 4781 chr1 158687163 158687163 G A rs28568406 OR6K3 Nonsynonymous SNV P248L 0.376 0.378 0.381 154 442 145 0.395 112 91 28 23 30 14.08 4782 chr11 120008468 120008468 G C rs1670195 TRIM29 Nonsynonymous SNV S91C 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 24 4783 chr11 124294236 124294236 A G rs4057749 OR8B4 Nonsynonymous SNV C178R 0.25 0.247 0.265 104 294 95 0.267 78 39 11 15 12 24.6 4784 chr11 34938265 34938265 C T rs2956109 PDHX Synonymous SNV P21P 0.769 0.732 0.68 306 903 281 0.785 200 347 102 77 117 Benign 13 4785 chr11 124765575 124765575 C T rs143536118 ROBO4 Nonsynonymous SNV G127S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 22.9 4786 chr11 124135680 124135680 C T rs943179881 OR8G5 Synonymous SNV L320L 0.026 0.023 0 3 30 9 0.008 0 0 0 0 0 10.04 4787 chr11 34938269 34938269 C T rs1049306 PDHX Nonsynonymous SNV R23C 0.118 0.094 0.129 46 138 36 0.118 38 9 0 6 3 Benign 12.06 4788 chr11 124135694 124135694 C T rs201086595 OR8G1, OR8G5 Synonymous SNV I324I 0.036 0.029 0 3 42 11 0.008 0 0 0 0 0 11.14 4789 chr1 158687224 158687224 G A rs857703 OR6K3 Nonsynonymous SNV P228S 0.373 0.37 0.374 154 438 142 0.395 110 89 26 22 30 10.39 4790 chr11 124135697 124135697 C T rs199587033 OR8G1, OR8G5 Synonymous SNV Y325Y 0.037 0.034 0 3 43 13 0.008 0 0 0 0 0 2.846 4791 chr11 124294377 124294377 A G rs4057750 OR8B4 Nonsynonymous SNV Y131H 0.249 0.247 0.265 103 292 95 0.264 78 37 11 15 12 25.2 4792 chr11 124766128 124766128 A G rs4078313 ROBO4 Synonymous SNV H70H 0.305 0.341 0.378 140 358 131 0.359 111 54 23 20 25 0.297 4793 chr11 34938310 34938310 T C rs1049307 PDHX Synonymous SNV S36S 0.118 0.096 0.136 46 138 37 0.118 40 9 0 6 3 Benign 0.326 4794 chr11 124135721 124135721 C T rs200915776 OR8G1, OR8G5 Synonymous SNV H333H 0.053 0.052 0 8 62 20 0.021 0 0 0 0 0 8.011 4795 chr11 124135725 124135725 G T rs202012586 OR8G1, OR8G5 Nonsynonymous SNV A335S 0.057 0.055 0 10 67 21 0.026 0 0 0 0 0 11.86 4796 chr11 34963416 34963416 T C rs2986407 MIR1343 0 0 0.745 0 0 0 0 219 0 0 82 0 5.911 4797 chr1 158725080 158725080 C T rs16841001 OR6K6 Nonsynonymous SNV R159C 0.174 0.185 0.201 79 204 71 0.203 59 15 7 7 6 25.5 4798 chr11 1254280 1254280 C T rs139957803 MUC5B Synonymous SNV Y701Y 0.021 0.036 0.017 13 25 14 0.033 5 0 0 0 0 5.073 4799 chr11 124135738 124135738 C T rs755299035 OR8G1, OR8G5 Nonsynonymous SNV T339M 0.054 0.031 0 12 63 12 0.031 0 0 0 0 0 15.55 4800 chr11 34963459 34963459 T C rs11032942 MIR1343 0 0 0.153 0 0 0 0 45 0 0 6 0 0.868 4801 chr11 124135743 124135743 G C OR8G1, OR8G5 Nonsynonymous SNV G341R 0.066 0.034 0 17 77 13 0.044 0 0 0 0 0 5.757 4802 chr1 156846233 156846233 G A rs6334 NTRK1 Synonymous SNV Q552Q 0.228 0.253 0.184 84 268 97 0.215 54 28 8 6 12 Benign 10.43 4803 chr11 34969112 34969112 A G rs11539202 PDHX Nonsynonymous SNV T86A 0.267 0.258 0.286 99 313 99 0.254 84 36 11 10 10 Benign 23.5 4804 chr1 158725209 158725209 A T OR6K6 Nonsynonymous SNV I202F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 4805 chr11 124135744 124135744 G A OR8G1, OR8G5 Nonsynonymous SNV G341E 0.067 0.034 0 16 79 13 0.041 0 0 0 0 0 0.167 4806 chr11 120099791 120099791 C T rs2465654 OAF Synonymous SNV F254F 0.084 0.091 0.092 24 99 35 0.062 27 8 2 2 3 19.45 4807 chr11 124135747 124135747 A G rs781711405 OR8G1, OR8G5 Nonsynonymous SNV K342R 0.076 0.039 0 21 89 15 0.054 0 0 0 0 0 0.002 4808 chr1 158735595 158735595 C T rs857824 OR6N1 Nonsynonymous SNV R293H 0.626 0.602 0.578 231 735 231 0.592 170 226 68 50 68 24.6 4809 chr11 124135757 124135757 C A OR8G5 Nonsynonymous SNV F345L 0.1 0.052 0 31 117 20 0.079 0 0 0 0 0 6.066 4810 chr11 125708293 125708293 T G rs12224646 PATE4 Nonsynonymous SNV C90G 0.109 0.104 0.129 40 128 40 0.103 38 10 3 3 3 1.189 4811 chr11 34979095 34979095 C T rs79170416 PDHX Synonymous SNV I154I 0.052 0.057 0.061 16 61 22 0.041 18 2 0 0 1 Benign/Likely benign 12.43 4812 chr11 124740161 124740161 A G ROBO3 Synonymous SNV L289L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.593 4813 chr11 124135760 124135760 A G OR8G5 Synonymous SNV L346L 0.106 0.065 0 35 124 25 0.09 0 0 0 0 0 0.325 4814 chr11 125763884 125763884 G C PUS3 Synonymous SNV L206L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 7.318 4815 chr1 158735691 158735691 T C rs857825 OR6N1 Nonsynonymous SNV Q261R 0.625 0.602 0.578 231 734 231 0.592 170 226 68 50 68 0.003 4816 chr11 124135762 124135762 G A OR8G5 Synonymous SNV X347X 0.106 0.068 0 33 125 26 0.085 0 0 0 0 0 7.627 4817 chr11 125765528 125765528 G A rs35681508 PUS3 Nonsynonymous SNV P179S 0.055 0.039 0.061 17 65 15 0.044 18 3 2 0 0 24.2 4818 chr11 34988343 34988343 T C rs61760973 PDHX Synonymous SNV P251P 0.058 0.057 0.071 17 68 22 0.044 21 2 0 1 1 Benign 0.172 4819 chr1 156878473 156878473 C T rs77795865 PEAR1 Nonsynonymous SNV S381F 0.017 0.021 0.01 9 20 8 0.023 3 0 0 0 0 24.7 4820 chr11 34991727 34991727 T C rs497582 PDHX Synonymous SNV V271V 0.634 0.609 0.595 253 744 234 0.649 175 240 74 51 81 Benign 8.656 4821 chr11 120187971 120187971 G A rs2282537 POU2F3 Nonsynonymous SNV R392K 0.1 0.102 0.085 34 117 39 0.087 25 10 0 2 1 17.52 4822 chr11 35201842 35201842 C T rs1071695 CD44 Synonymous SNV H85H 0.275 0.234 0.286 114 323 90 0.292 84 43 17 11 14 13.23 4823 chr1 158735740 158735740 A G rs857826 OR6N1 Nonsynonymous SNV F245L 0.626 0.602 0.578 232 735 231 0.595 170 226 68 50 68 9.546 4824 chr1 156911718 156911718 C T rs35187704 ARHGEF11 Nonsynonymous SNV M1090I 0.013 0.018 0.01 8 15 7 0.021 3 0 0 0 0 0.029 4825 chr11 124750448 124750453 CGGAGT - rs56085444 ROBO3 R416_S417del 0.218 0.216 0.33 100 256 83 0.256 97 44 18 14 15 4826 chr11 1248960 1248960 G A rs2075855 MUC5B Synonymous SNV T241T 0.088 0.078 0.085 36 103 30 0.092 25 2 1 3 1 Benign 8.595 4827 chr11 35222681 35222681 C T rs35356320 CD44 Synonymous SNV T282T 0.059 0.065 0.051 27 69 25 0.069 15 2 0 0 2 12.35 4828 chr11 124756406 124756406 G A rs7104934 ROBO4 Synonymous SNV S771S 0.129 0.128 0.187 60 151 49 0.154 55 10 7 4 5 13.14 4829 chr11 124947149 124947149 G A rs12276567 SLC37A2 Synonymous SNV S55S 0.279 0.284 0.296 105 328 109 0.269 87 43 10 12 14 10.96 4830 chr1 158735892 158735892 A G rs857827 OR6N1 Nonsynonymous SNV I194T 0.626 0.602 0.578 232 735 231 0.595 170 226 68 50 68 7.002 4831 chr11 35226155 35226155 A G rs9666607 CD44 Nonsynonymous SNV K374R 0.707 0.701 0.707 271 830 269 0.695 208 296 98 72 95 0.228 4832 chr11 120278477 120278477 A G rs34172482 ARHGEF12 Synonymous SNV P29P 0.043 0.039 0.044 15 50 15 0.038 13 2 0 0 0 8.942 4833 chr1 157069154 157069154 A G rs16838075 ETV3L Synonymous SNV D25D 0.136 0.18 0.15 42 160 69 0.108 44 11 4 5 4 1.415 4834 chr11 124767126 124767126 G T rs117911608 ROBO4 Synonymous SNV I34I 0.011 0.008 0.003 5 13 3 0.013 1 0 0 0 0 11.08 4835 chr11 124180477 124180477 G A rs6590057 OR8D1 Synonymous SNV F62F 0.066 0.081 0.092 22 78 31 0.056 27 5 3 0 0 8.586 4836 chr1 158736215 158736215 G A rs6666753 OR6N1 Synonymous SNV L86L 0.904 0.888 0.847 359 1061 341 0.921 249 478 152 107 164 4.362 4837 chr11 35229673 35229673 T C rs1467558 CD44 Nonsynonymous SNV I230T 0.87 0.891 0.857 335 1021 342 0.859 252 445 153 108 145 1.696 4838 chr1 158986477 158986477 G C rs866484 IFI16 Nonsynonymous SNV S179T 0.773 0.742 0.755 284 908 285 0.728 222 350 105 85 106 0.002 4839 chr11 119185677 119185677 T C rs34587557 MCAM Nonsynonymous SNV E89G 0.054 0.055 0.095 28 63 21 0.072 28 2 1 2 1 22 4840 chr11 35641312 35641312 G A rs3740799 FJX1 Synonymous SNV L376L 0.126 0.156 0.116 52 148 60 0.133 34 13 2 3 2 8.546 4841 chr1 158057633 158057633 C G rs36008419 KIRREL1 Synonymous SNV P150P 0.291 0.242 0.238 93 342 93 0.238 70 46 11 6 15 14.37 4842 chr11 36103228 36103228 A G rs1138807 LDLRAD3 Synonymous SNV P24P 0.363 0.409 0.306 141 426 157 0.362 90 78 27 13 21 8.52 4843 chr1 159002377 159002377 C A rs1057027 IFI16 Nonsynonymous SNV R353S 0.824 0.805 0.813 293 967 309 0.751 239 400 125 96 109 8.293 4844 chr11 119185748 119185748 G A rs35929108 MCAM Synonymous SNV V65V 0.037 0.023 0.034 17 44 9 0.044 10 2 0 0 1 10.88 4845 chr11 36422792 36422792 G A rs330261 PRR5L Nonsynonymous SNV A41T 0.898 0.872 0.905 352 1054 335 0.903 266 475 147 121 160 0.245 4846 chr11 124861377 124861377 A G rs61752520 CCDC15 Synonymous SNV P643P 0.01 0.021 0.027 3 12 8 0.008 8 0 0 0 0 6.681 4847 chr11 125351468 125351468 T C rs572570595 FEZ1 Nonsynonymous SNV N125D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 4848 chr1 159002389 159002389 T A rs1057028 IFI16 Nonsynonymous SNV Y357N 0.824 0.805 0.813 293 967 309 0.751 239 400 125 96 109 0.041 4849 chr11 36484167 36484167 C T rs11033639 PRR5L Nonsynonymous SNV P202S 0.058 0.047 0.078 20 68 18 0.051 23 2 1 0 0 0.511 4850 chr11 123676777 123676777 C T rs147835876 OR6M1 Nonsynonymous SNV G94D 0.05 0.044 0.051 14 59 17 0.036 15 1 1 0 1 14.25 4851 chr11 123988899 123988899 C T rs144358960 VWA5A Nonsynonymous SNV R84C 0 0 0 0 0 0 0 0 0 0 0 0 22.8 4852 chr1 159169641 159169641 T C rs862999 CADM3 Synonymous SNV L351L 0.704 0.732 0.667 269 827 281 0.69 196 300 99 66 89 0.048 4853 chr11 36484208 36484208 T C rs514352 PRR5L Synonymous SNV T215T 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.093 4854 chr1 159283494 159283494 T C rs58037016 OR10J3 Nonsynonymous SNV E319G 0.061 0.065 0.034 25 72 25 0.064 10 1 0 0 0 13.98 4855 chr11 3661140 3661140 T C rs4910876 ART5 Synonymous SNV G173G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 4856 chr11 124056088 124056088 A G rs61907117 OR10D3 Nonsynonymous SNV T38A 0.03 0.039 0.034 10 35 15 0.026 10 2 0 0 0 18.98 4857 chr11 3661585 3661585 - TGG rs3062849 ART5 P24_I25insT 0.992 1 0.993 386 1165 384 0.99 292 578 192 145 191 4858 chr1 159283746 159283746 T C rs11265165 OR10J3 Nonsynonymous SNV Q235R 0.097 0.091 0.078 31 114 35 0.079 23 5 2 1 0 0.002 4859 chr11 3681519 3681519 T C rs2280134 ART1 Nonsynonymous SNV L257P 0.748 0.779 0.707 286 878 299 0.733 208 328 118 71 103 13.05 4860 chr1 159409734 159409734 G T rs10908722 OR10J1 Nonsynonymous SNV M51I 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.001 4861 chr11 3700793 3700793 A G NUP98 Synonymous SNV H1641H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.133 4862 chr11 372157 372157 C T rs34063493 B4GALNT4 Nonsynonymous SNV A67V 0.281 0.297 0.255 113 330 114 0.29 75 39 17 9 18 0.007 4863 chr1 159558258 159558258 A G rs2808661 APCS Synonymous SNV V144V 0.752 0.75 0.741 304 883 288 0.779 218 333 106 83 119 0.163 4864 chr1 158532614 158532614 G A rs41273499 OR6P1 Nonsynonymous SNV R261W 0.061 0.078 0.054 14 72 30 0.036 16 2 2 0 0 24.1 4865 chr1 159683814 159683814 G A rs77832441 CRP Nonsynonymous SNV T59M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 4866 chr11 372700 372700 G C rs35475866 B4GALNT4 Synonymous SNV G98G 0.281 0.302 0.194 115 330 116 0.295 57 40 18 8 19 0.099 4867 chr11 3793081 3793081 C T rs145045544 NUP98 Synonymous SNV L227L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.65 4868 chr11 379598 379598 A G rs1134699 B4GALNT4 Synonymous SNV E795E 0.385 0.409 0.374 139 452 157 0.356 110 85 31 20 28 0.313 4869 chr1 159854251 159854251 T C rs16842789 CFAP45 Nonsynonymous SNV E291G 0.06 0.068 0.088 21 70 26 0.054 26 3 2 1 2 24.8 4870 chr11 125871735 125871735 C T rs516664 CDON Synonymous SNV A679A 0.302 0.313 0.31 106 354 120 0.272 91 52 19 13 17 Benign 18.84 4871 chr11 396915 396915 C T rs12419281 PKP3 Synonymous SNV N138N 0.566 0.568 0.602 219 664 218 0.562 177 179 62 52 62 11.67 4872 chr11 125891269 125891269 C T rs3740912 CDON Nonsynonymous SNV V75I 0.549 0.526 0.582 235 644 202 0.603 171 177 49 55 72 Benign 0.165 4873 chr11 125452313 125452313 A G rs4627097 EI24 Nonsynonymous SNV I249V 0.365 0.346 0.361 121 429 133 0.31 106 120 37 24 29 9.866 4874 chr1 159923111 159923111 T G rs2789417 SLAMF9 Nonsynonymous SNV I127L 0.876 0.875 0.891 359 1028 336 0.921 262 446 146 116 164 0.814 4875 chr11 400040 400040 A G rs1128982 PKP3 Synonymous SNV T449T 0.185 0.167 0.184 83 217 64 0.213 54 20 6 5 13 0.002 4876 chr11 400109 400109 A G rs8858 PKP3 Synonymous SNV A472A 0.792 0.818 0.779 315 930 314 0.808 229 368 127 98 127 0.041 4877 chr11 121460846 121460846 C T rs2276412 SORL1 Synonymous SNV N1392N 0.027 0.034 0.041 12 32 13 0.031 12 0 0 1 0 17.65 4878 chr11 125479363 125479363 G A rs2241502 STT3A Synonymous SNV S240S 0.44 0.378 0.371 159 516 145 0.408 109 107 30 18 32 Benign 14.09 4879 chr1 160062472 160062472 C T rs2295622 IGSF8 Synonymous SNV E442E 0.199 0.172 0.167 81 234 66 0.208 49 32 4 4 8 12.7 4880 chr11 40137543 40137543 T C rs2953310 LRRC4C Synonymous SNV R100R 0.39 0.456 0.391 147 458 175 0.377 115 86 35 23 28 0.846 4881 chr11 403980 403980 G A rs11748 PKP3 Synonymous SNV P705P 0.582 0.609 0.646 214 683 234 0.549 190 194 71 62 61 6.985 4882 chr1 160062727 160062727 A G rs2295621 IGSF8 Synonymous SNV H433H 0.2 0.177 0.167 86 235 68 0.221 49 32 4 4 8 0.191 4883 chr11 124742365 124742365 G A rs3862618 ROBO3 Nonsynonymous SNV R416H 0.119 0.122 0.139 52 140 47 0.133 41 10 6 1 5 Benign 16.16 4884 chr11 404317 404317 C T rs1134578 PKP3 Synonymous SNV F784F 0.578 0.604 0.636 211 678 232 0.541 187 190 70 59 60 11.55 4885 chr1 160124875 160124875 G A rs6427504 ATP1A4 Nonsynonymous SNV G83D 0.769 0.74 0.527 297 903 284 0.762 155 351 105 68 115 4.517 4886 chr11 406043 406043 G A rs7947 SIGIRR Synonymous SNV V362V 0.831 0.854 0.871 316 976 328 0.81 256 406 140 110 126 9.818 4887 chr11 125617610 125617610 A G rs2114084 PATE1 Nonsynonymous SNV Q47R 0.351 0.307 0.303 129 412 118 0.331 89 73 20 9 26 18.38 4888 chr1 160136350 160136350 G A rs7529215 ATP1A4 Synonymous SNV A360A 0.648 0.646 0.65 241 761 248 0.618 191 248 80 60 76 8.985 4889 chr11 406473 406473 A C rs3087588 SIGIRR Synonymous SNV P315P 0.83 0.854 0.871 316 975 328 0.81 256 405 140 110 126 0.002 4890 chr1 160141196 160141196 C T rs625549 ATP1A4 Synonymous SNV Y549Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.359 4891 chr11 124767067 124767067 T C rs59648931 ROBO4 Nonsynonymous SNV Q54R 0.241 0.26 0.272 99 283 100 0.254 80 34 16 17 11 0.184 4892 chr1 160303416 160303416 G A rs1802778 COPA Synonymous SNV N121N 0.599 0.596 0.612 204 703 229 0.523 180 206 68 54 55 7.832 4893 chr11 406483 406483 T C rs3210908 SIGIRR Nonsynonymous SNV Q312R 0.83 0.854 0.871 316 975 328 0.81 256 405 140 110 126 0.002 4894 chr11 122742028 122742028 C G rs1916036 CRTAM Nonsynonymous SNV A169G 0.014 0.018 0 0 17 7 0 0 0 0 0 0 14.83 4895 chr1 160393905 160393905 A G rs12086448 VANGL2 Synonymous SNV K379K 0.537 0.57 0.503 187 630 219 0.479 148 162 66 40 46 1.532 4896 chr11 4103524 4103524 A G rs2304891 STIM1 Synonymous SNV Q360Q 0.496 0.544 0.568 201 582 209 0.515 167 149 53 42 48 Benign 5.983 4897 chr1 160394937 160394937 A C rs17380127 VANGL2 Synonymous SNV G445G 0.336 0.372 0.296 99 395 143 0.254 87 59 19 14 14 5.561 4898 chr11 124767125 124767125 G A rs73016370 ROBO4 Synonymous SNV L35L 0.089 0.115 0.099 40 104 44 0.103 29 3 4 1 3 10.91 4899 chr11 1260731 1260731 C T MUC5B Nonsynonymous SNV A1173V 0.333 0.344 0 112 391 132 0.287 0 0 0 0 0 16 4900 chr11 122805487 122805487 A G rs34653644 JHY Synonymous SNV K408K 0.014 0.016 0.003 1 17 6 0.003 1 0 0 0 0 2.824 4901 chr1 160395003 160395003 G A rs17380141 VANGL2 Synonymous SNV P467P 0.336 0.372 0.296 100 395 143 0.256 87 59 19 14 14 14.18 4902 chr11 4141132 4141132 C A rs183484 RRM1 Synonymous SNV R62R 0.493 0.505 0.534 201 579 194 0.515 157 156 47 39 51 21 4903 chr11 122955402 122955402 C T rs2276348 CLMP Nonsynonymous SNV R69H 0.017 0.016 0 1 20 6 0.003 0 0 0 0 0 16.07 4904 chr1 160650913 160650913 A G rs4656926 CD48 Nonsynonymous SNV I244T 0.994 0.992 0.99 388 1167 381 0.995 291 580 189 145 193 0.898 4905 chr11 1260732 1260732 A G MUC5B Synonymous SNV A1173A 0.331 0.341 0 112 389 131 0.287 0 0 0 0 0 0.959 4906 chr11 4159457 4159457 A G rs9937 RRM1 Synonymous SNV T403T 0.497 0.513 0.541 207 583 197 0.531 159 155 48 39 53 13.97 4907 chr11 126073511 126073511 C T rs73622200 RPUSD4 Synonymous SNV Q281Q 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 10.85 4908 chr11 4159466 4159466 G A rs1042858 RRM1 Synonymous SNV A406A 0.884 0.875 0.884 346 1038 336 0.887 260 462 147 114 158 14.2 4909 chr1 160650938 160650938 C T rs6667145 CD48 Nonsynonymous SNV E236K 0.145 0.154 0.18 43 170 59 0.11 53 13 4 9 2 2.121 4910 chr11 1260741 1260744 AAAA - MUC5B K1177Pfs*35 0.325 0.333 0 102 382 128 0.262 0 0 0 0 0 4911 chr11 124949044 124949044 C T rs33932952 SLC37A2 Synonymous SNV Y117Y 0.183 0.18 0.173 62 215 69 0.159 51 19 6 5 6 11.32 4912 chr11 1260760 1260760 A C MUC5B Nonsynonymous SNV S1183R 0.214 0.201 0 61 251 77 0.156 0 0 0 0 0 11.08 4913 chr11 428385 428385 A G rs10794323 ANO9 Nonsynonymous SNV C255R 0.881 0.862 0.871 332 1034 331 0.851 256 456 143 110 139 0.001 4914 chr1 160793442 160793442 A G rs474131 LY9 Synonymous SNV V472V 0.422 0.409 0.405 152 496 157 0.39 119 100 24 24 29 0.91 4915 chr11 1260765 1260765 G A MUC5B Synonymous SNV G1184G 0.188 0.167 0 53 221 64 0.136 0 0 0 0 0 11.16 4916 chr1 160793560 160793560 A G rs509749 LY9 Nonsynonymous SNV M512V 0.422 0.411 0.405 152 496 158 0.39 119 100 25 24 29 0.001 4917 chr11 1260766 1260766 C G MUC5B Nonsynonymous SNV H1185D 0.178 0.154 0 47 209 59 0.121 0 0 0 0 0 14.03 4918 chr11 428489 428489 T C rs10794324 ANO9 Nonsynonymous SNV I247V 0.861 0.836 0.837 321 1011 321 0.823 246 439 135 102 131 0.001 4919 chr11 43284469 43284469 G A rs10734513 HNRNPKP3 0 0 0.997 0 0 0 0 293 0 0 146 0 2.941 4920 chr11 126079508 126079508 T G rs34809853 RPUSD4 Nonsynonymous SNV E155D 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 12.49 4921 chr1 160851826 160851826 A T rs2274907 ITLN1 Nonsynonymous SNV V109D 0.697 0.674 0.714 278 818 259 0.713 210 291 91 72 95 9.859 4922 chr11 433387 433387 A G rs7395065 ANO9 Nonsynonymous SNV F93L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.052 4923 chr11 126147003 126147003 A G rs7116126 FOXRED1 Nonsynonymous SNV H380R 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 4924 chr1 160851894 160851894 G A rs2274908 ITLN1 Synonymous SNV H86H 0.697 0.674 0.714 276 818 259 0.708 210 291 91 72 94 6.007 4925 chr11 433867 433867 G A rs12575508 ANO9 Nonsynonymous SNV A51V 0.202 0.234 0.252 65 237 90 0.167 74 25 6 10 5 0.065 4926 chr1 160920966 160920966 C T rs6680969 ITLN2 Nonsynonymous SNV R103H 0.592 0.542 0.65 240 695 208 0.615 191 214 62 64 70 0.008 4927 chr11 4388905 4388905 C T rs11031960 OR52B4 Synonymous SNV S207S 0.308 0.352 0.401 110 362 135 0.282 118 47 27 25 19 8.842 4928 chr11 126162893 126162893 G A rs7932976 TIRAP Nonsynonymous SNV V197I 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 23.5 4929 chr1 158736445 158736445 C T rs1864346 OR6N1 Nonsynonymous SNV A10T 0.258 0.234 0.248 115 303 90 0.295 73 42 8 11 15 6.412 4930 chr11 4389405 4389405 G - rs11310407 OR52B4 L41Ffs*44 0.343 0.336 0.333 153 403 129 0.392 98 59 20 15 30 4931 chr1 161017556 161017556 C T rs2774279 ARHGAP30 Synonymous SNV R908R 0.362 0.37 0.323 120 425 142 0.308 95 77 24 13 16 0.729 4932 chr11 43911365 43911365 T C rs2434478 ALKBH3 Synonymous SNV T119T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.6 4933 chr1 161019040 161019040 G C rs3813609 ARHGAP30 Nonsynonymous SNV L414V 0.633 0.612 0.592 225 743 235 0.577 174 235 71 53 60 3.451 4934 chr11 43919694 43919694 C T rs2460130 SEC14L1P1 0 0 0.578 0 0 0 0 170 0 0 49 0 8.369 4935 chr11 43920979 43920979 G A rs7933911 SEC14L1P1 0 0 0.711 0 0 0 0 209 0 0 104 0 2.351 4936 chr11 43940602 43940602 C G rs1130290 ALKBH3 Nonsynonymous SNV D228E 0.211 0.229 0.218 84 248 88 0.215 64 25 9 3 11 33 4937 chr1 158990247 158990247 A G rs1057024 IFI16 Synonymous SNV Q307Q 0.141 0.172 0.177 69 166 66 0.177 52 12 5 6 5 0.127 4938 chr1 161049509 161049509 G T rs35434391 NECTIN4 Nonsynonymous SNV P104T 0.118 0.112 0.078 32 138 43 0.082 23 14 1 0 1 14.57 4939 chr11 44080210 44080210 T C rs2074051 ACCSL Nonsynonymous SNV C529R 0.738 0.763 0.738 247 866 293 0.633 217 314 114 78 78 0.002 4940 chr11 125351472 125351472 A T rs597570 FEZ1 Nonsynonymous SNV D123E 0.181 0.198 0.177 93 212 76 0.238 52 21 9 3 17 8.616 4941 chr11 128333503 128333503 T C rs2230004 ETS1 Synonymous SNV L121L 0.464 0.451 0.459 156 545 173 0.4 135 122 32 24 32 9.404 4942 chr1 161068836 161068836 A C rs11576830 KLHDC9 Nonsynonymous SNV S171R 0.334 0.326 0.333 116 392 125 0.297 98 69 22 15 15 0.002 4943 chr11 128675292 128675292 T A rs7113191 FLI1 Synonymous SNV A36A 0.108 0.081 0.119 41 127 31 0.105 35 4 0 4 1 6.532 4944 chr11 121367627 121367627 G A rs117260922 SORL1 Nonsynonymous SNV E270K 0.028 0.034 0.027 6 33 13 0.015 8 0 0 0 0 34 4945 chr11 44089352 44089352 G A rs33952257 ACCS Nonsynonymous SNV D59N 0.226 0.229 0.231 76 265 88 0.195 68 27 13 3 9 6.696 4946 chr11 125365285 125365285 T C rs11220099 LOC403312 0.187 0.201 0.173 95 219 77 0.244 51 23 9 2 17 0.047 4947 chr1 161163037 161163037 T C rs4233367 ADAMTS4 Nonsynonymous SNV Q626R 0.629 0.643 0.571 239 739 247 0.613 168 232 73 50 74 5.021 4948 chr11 44104981 44104981 C T rs3107275 ACCS Nonsynonymous SNV P421L 0.509 0.495 0.476 179 597 190 0.459 140 148 43 31 48 13.16 4949 chr1 159024668 159024668 A T rs6940 IFI16 Nonsynonymous SNV T723S 0.112 0.138 0.126 62 132 53 0.159 37 8 6 1 3 7.315 4950 chr11 44286566 44286566 G A rs3802805 ALX4 Synonymous SNV H358H 0.255 0.26 0.269 116 299 100 0.297 79 36 17 9 19 Benign 11.4 4951 chr1 161168004 161168004 C T rs33941127 ADAMTS4 Synonymous SNV S138S 0.218 0.198 0.207 72 256 76 0.185 61 24 9 6 8 15.5 4952 chr11 44296946 44296946 C T rs11037928 ALX4 Synonymous SNV A243A 0.168 0.164 0.112 71 197 63 0.182 33 15 8 2 7 Benign 11.3 4953 chr1 161202605 161202605 G A rs2307424 NR1I3 Synonymous SNV P151P 0.379 0.393 0.374 145 445 151 0.372 110 78 22 20 30 Benign 12.3 4954 chr11 44297054 44297054 T C rs10769028 ALX4 Synonymous SNV S207S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.166 4955 chr1 159175354 159175354 G A rs12075 ACKR1 Nonsynonymous SNV G44D 0.586 0.568 0.633 256 688 218 0.656 186 198 58 59 82 Benign 0.004 4956 chr1 161681780 161681780 A G rs2275603 FCRLA Nonsynonymous SNV S46G 0.227 0.237 0.272 72 266 91 0.185 80 30 12 11 7 0.001 4957 chr11 44636839 44636839 C T rs883752 CD82 Synonymous SNV G93G 0.258 0.232 0.262 100 303 89 0.256 77 35 14 11 18 18.88 4958 chr11 44640268 44640268 A G rs1139971 CD82 Nonsynonymous SNV I216V 0.634 0.599 0.673 255 744 230 0.654 198 241 69 66 83 1.877 4959 chr1 161695639 161695639 G T rs7520519 FCRLB Synonymous SNV A105A 0.894 0.911 0.881 349 1049 350 0.895 259 468 159 115 157 11.19 4960 chr11 44640640 44640640 C G rs7107335 CD82 Synonymous SNV V231V 0.141 0.146 0.105 42 166 56 0.108 31 12 3 2 2 13.59 4961 chr1 161697072 161697072 G C rs72704099 FCRLB Nonsynonymous SNV Q245H 0.066 0.065 0.095 27 77 25 0.069 28 4 0 4 1 9.464 4962 chr11 45203848 45203848 G A rs1078931 PRDM11 Synonymous SNV K57K 0.188 0.182 0.187 91 221 70 0.233 55 18 5 3 9 12.58 4963 chr1 159409857 159409857 A G rs12048482 OR10J1 Nonsynonymous SNV I92M 0.693 0.69 0.735 272 813 265 0.697 216 281 91 81 90 14.51 4964 chr11 1260744 1260744 - GCGC MUC5B Frameshift insertion T1178Afs*33 0.275 0.266 0 84 323 102 0.215 0 0 0 0 0 4965 chr11 45248372 45248372 T C rs11038361 PRDM11 Synonymous SNV D732D 0.959 0.964 0.925 377 1126 370 0.967 272 541 178 126 182 0.003 4966 chr1 161721707 161721707 C T rs1063178 DUSP12 Synonymous SNV Y170Y 0.342 0.385 0.378 154 401 148 0.395 111 72 28 22 29 11.31 4967 chr11 12229611 12229611 A T rs149218318 MICAL2 Nonsynonymous SNV M172L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.609 4968 chr11 45249314 45249314 T C rs746555 PRDM11 Synonymous SNV A1046A 0.959 0.964 0.925 377 1126 370 0.967 272 541 178 126 182 1.283 4969 chr1 159410340 159410340 T A rs12409540 OR10J1 Stop gain C253X 0.116 0.122 0.119 58 136 47 0.149 35 9 3 2 2 26 4970 chr1 161928327 161928327 A G rs9482 ATF6 Synonymous SNV S632S 0.714 0.742 0.694 274 838 285 0.703 204 299 108 67 97 6.618 4971 chr11 45672261 45672261 A G rs3802762 CHST1 Synonymous SNV S71S 0.883 0.893 0.864 350 1037 343 0.897 254 462 152 112 157 0.313 4972 chr11 125465862 125465862 T C rs10082632 STT3A Synonymous SNV L18L 0.083 0.073 0.078 32 98 28 0.082 23 4 1 0 1 Benign 5.5 4973 chr11 12246233 12246233 G C rs3816921 MICAL2 Synonymous SNV R518R 0.082 0.112 0.116 23 96 43 0.059 34 4 3 1 0 9.334 4974 chr1 161967681 161967681 A G rs2499836 OLFML2B Nonsynonymous SNV W471R 0.758 0.805 0.755 307 890 309 0.787 222 336 121 81 123 6.397 4975 chr11 45793154 45793154 A C rs3740704 LINC02716 0 0 0.102 0 0 0 0 30 0 0 0 0 0.001 4976 chr1 159505297 159505297 C T rs4656837 OR10J5 Synonymous SNV P167P 0.761 0.755 0.765 287 893 290 0.736 225 340 113 91 102 8.349 4977 chr11 1260775 1260775 G C MUC5B Nonsynonymous SNV V1188L 0.089 0.07 0 28 104 27 0.072 0 0 0 0 0 9.249 4978 chr11 125476252 125476252 C G rs34964592 STT3A Synonymous SNV L132L 0.083 0.07 0.078 32 97 27 0.082 23 4 1 0 1 Benign 17.01 4979 chr11 45793218 45793218 G C rs2666891 LINC02716 0 0 0.354 0 0 0 0 104 0 0 17 0 0.013 4980 chr11 129996662 129996662 G A rs111301435 APLP2 Synonymous SNV E157E 0.008 0.005 0.031 3 9 2 0.008 9 0 0 0 0 12.87 4981 chr1 161976234 161976234 A G rs12022536 OLFML2B Synonymous SNV N192N 0.768 0.763 0.772 302 902 293 0.774 227 338 113 86 115 2.89 4982 chr1 159827747 159827747 G A rs41264827 VSIG8 Nonsynonymous SNV A147V 0.024 0.016 0.02 5 28 6 0.013 6 1 1 0 0 23 4983 chr11 1260776 1260776 T G MUC5B Nonsynonymous SNV V1188G 0.066 0.063 0 22 77 24 0.056 0 0 0 0 0 10.05 4984 chr1 162344102 162344102 C T rs2282397 SPATA46 Synonymous SNV R174R 0.397 0.391 0.364 149 466 150 0.382 107 96 31 21 31 11.05 4985 chr11 45935384 45935384 A G rs1132349 PEX16 Synonymous SNV Y291Y 0.933 0.94 0.898 345 1095 361 0.885 264 510 169 119 152 Benign 0.002 4986 chr11 12265542 12265542 A G rs2270511 MICAL2 Synonymous SNV L889L 0.095 0.122 0.15 36 111 47 0.092 44 5 1 2 0 8.116 4987 chr11 126162862 126162862 C T rs7932766 TIRAP Synonymous SNV A186A 0.204 0.237 0.276 72 240 91 0.185 81 22 13 9 5 12.3 4988 chr11 125488404 125488404 C T rs17140116 STT3A Synonymous SNV C545C 0.083 0.073 0.085 32 98 28 0.082 25 4 1 1 1 Benign 15.93 4989 chr1 162344390 162344390 A G rs164159 SPATA46 Synonymous SNV D78D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.012 4990 chr11 130131262 130131262 C A rs17139171 ZBTB44 Synonymous SNV V169V 0.025 0.018 0.031 10 29 7 0.026 9 1 0 1 0 12.66 4991 chr11 45937267 45937267 C T rs10742772 PEX16 Nonsynonymous SNV V116I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 16.46 4992 chr1 159897559 159897559 G T rs1319080 IGSF9 Nonsynonymous SNV P1117T 0.065 0.07 0.068 27 76 27 0.069 20 1 0 1 1 17.54 4993 chr1 162345091 162345091 G A rs164181 SPATA46 Nonsynonymous SNV A69V 0.996 0.99 0.983 386 1169 380 0.99 289 582 188 142 191 0.049 4994 chr11 125495740 125495740 A G rs77183579 CHEK1 Nonsynonymous SNV T29A 0.083 0.073 0.085 32 98 28 0.082 25 4 1 1 1 2.654 4995 chr11 130275749 130275749 T C rs11222085 ADAMTS8 Nonsynonymous SNV T792A 0.173 0.214 0.133 50 203 82 0.128 39 18 11 2 3 9.285 4996 chr1 159897638 159897638 T C rs77570237 IGSF9 Synonymous SNV S1090S 0.017 0.044 0.068 13 20 17 0.033 20 0 1 0 0 8.136 4997 chr11 45949534 45949534 C T rs939105 LARGE2 Synonymous SNV F556F 0.903 0.909 0.867 330 1060 349 0.846 255 480 158 113 142 10.39 4998 chr11 126201403 126201403 T C rs616360 DCPS Synonymous SNV N167N 0.22 0.253 0.299 67 258 97 0.172 88 26 15 11 5 5.674 4999 chr1 162367071 162367071 C T rs17852003 SH2D1B Synonymous SNV X133X 0.22 0.253 0.272 93 258 97 0.238 80 36 13 13 8 13.05 5000 chr11 125495746 125495746 C G rs76045215 CHEK1 Nonsynonymous SNV P31A 0.083 0.073 0.085 32 98 28 0.082 25 4 1 1 1 5.53 5001 chr1 159898100 159898100 A G rs3747615 IGSF9 Synonymous SNV S1026S 0.369 0.367 0.33 145 433 141 0.372 97 83 32 18 29 1.226 5002 chr1 162737116 162737116 C G rs2298258 DDR2 Synonymous SNV L420L 0.116 0.115 0.16 53 136 44 0.136 47 5 4 6 2 Benign 12.91 5003 chr11 4608542 4608542 C T rs1847632 OR52I2 Nonsynonymous SNV T167M 0.336 0.339 0.32 108 394 130 0.277 94 67 24 9 10 23.7 5004 chr11 1263523 1263523 G A rs1541314 MUC5B Nonsynonymous SNV G1805S 0.11 0.102 0.099 51 129 39 0.131 29 3 1 3 3 10.54 5005 chr1 159904539 159904539 A G rs35702833 IGSF9 Synonymous SNV H249H 0.057 0.099 0.099 28 67 38 0.072 29 0 2 1 1 0.312 5006 chr1 163309219 163309219 A T rs1509022 NUF2 Synonymous SNV G186G 0.524 0.482 0.469 211 615 185 0.541 138 140 42 37 55 4.925 5007 chr11 4615390 4615390 C T rs2010722 OR52I1 Nonsynonymous SNV T41I 0.976 0.953 0.354 383 1146 366 0.982 104 573 183 50 191 0.039 5008 chr11 1263776 1263776 C T rs2943510 MUC5B Nonsynonymous SNV P1889L 0.137 0.135 0.129 64 161 52 0.164 38 7 3 4 6 Benign 9.354 5009 chr1 165173216 165173216 A G rs1354509 LMX1A Synonymous SNV D350D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.632 5010 chr11 125547869 125547869 C T rs34788353 ACRV1 Nonsynonymous SNV G126R 0.08 0.065 0.078 32 94 25 0.082 23 4 1 1 1 16.01 5011 chr1 165377552 165377552 G A rs2134095 RXRG Synonymous SNV V227V 0.733 0.734 0.667 290 861 282 0.744 196 318 107 72 105 11.05 5012 chr11 4615508 4615508 C G rs2010719 OR52I1 Synonymous SNV S80S 0.533 0.5 0.626 195 626 192 0.5 184 270 87 60 79 Benign 1.379 5013 chr11 13032511 13032511 G C rs55909156 RASSF10 Nonsynonymous SNV C463S 0.121 0.073 0.105 60 142 28 0.154 31 8 0 0 7 12.3 5014 chr1 160000435 160000435 A T rs12409352 PIGM Nonsynonymous SNV F365L 0.137 0.125 0.105 55 161 48 0.141 31 13 2 4 3 8.914 5015 chr11 46339011 46339011 G A rs35652107 CREB3L1 Nonsynonymous SNV A411T 0.055 0.065 0.061 28 64 25 0.072 18 0 3 3 0 0.085 5016 chr11 1272167 1272167 C T rs4963058 MUC5B Nonsynonymous SNV T4686M 0.075 0.078 0.071 31 88 30 0.079 21 1 0 0 1 Benign 6.714 5017 chr1 165389129 165389129 G A rs1128977 RXRG Synonymous SNV A17A 0.428 0.393 0.378 159 503 151 0.408 111 96 36 19 38 13.49 5018 chr11 1272039 1272039 G A rs2943513 MUC5B Synonymous SNV P4643P 0.111 0.102 0.092 51 130 39 0.131 27 3 1 3 3 4.717 5019 chr1 165533005 165533005 C A rs453717 LRRC52 Synonymous SNV R296R 0.3 0.26 0.303 106 352 100 0.272 89 45 9 13 16 13.79 5020 chr1 160062340 160062340 G A rs41265757 IGSF8 Synonymous SNV D486D 0.097 0.086 0.075 37 114 33 0.095 22 14 0 1 0 0.304 5021 chr11 46342259 46342259 - G rs386373761 CREB3L1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5022 chr11 130343023 130343023 C T rs61746092 ADAMTS15 Synonymous SNV I720I 0.014 0.021 0.007 7 17 8 0.018 2 0 0 0 0 Benign 16.26 5023 chr11 46387868 46387868 A G rs1317826 DGKZ Nonsynonymous SNV Q21R 0.328 0.32 0.323 157 385 123 0.403 95 62 23 22 28 1.042 5024 chr1 165652273 165652273 A G rs1143659 ALDH9A1 Synonymous SNV I134I 0.702 0.646 0.697 275 824 248 0.705 205 293 80 71 95 3.164 5025 chr11 125647286 125647286 C T rs76476146 PATE2 Synonymous SNV E111E 0.08 0.06 0.078 27 94 23 0.069 23 6 0 1 1 7.374 5026 chr11 130343143 130343143 C T rs61753091 ADAMTS15 Synonymous SNV S760S 0.013 0.021 0.007 7 15 8 0.018 2 0 0 0 0 Benign 14.35 5027 chr1 165667781 165667781 T G rs12408101 ALDH9A1 Synonymous SNV A5A 0.247 0.221 0.255 112 290 85 0.287 75 39 9 15 16 2.527 5028 chr11 125659371 125659371 G A rs78883072 PATE3 Nonsynonymous SNV G47D 0.08 0.057 0.078 27 94 22 0.069 23 6 0 1 1 0.009 5029 chr11 46403649 46403649 G A rs20542 MDK Synonymous SNV L14L 0.203 0.185 0.184 85 238 71 0.218 54 25 4 7 8 11.25 5030 chr1 160105367 160105367 C T rs17846715 ATP1A2 Synonymous SNV A753A 0.095 0.091 0.058 44 112 35 0.113 17 10 1 1 0 Benign 16.52 5031 chr1 166039898 166039898 C G rs41269662 FAM78B Synonymous SNV V122V 0.16 0.156 0.153 63 188 60 0.162 45 15 5 2 6 1.615 5032 chr11 46406767 46406767 G A rs2067482 CHRM4 Synonymous SNV T447T 0.113 0.115 0.139 65 133 44 0.167 41 7 4 3 4 3.761 5033 chr1 166818566 166818566 A G rs2075946 POGK Synonymous SNV A132A 0.106 0.112 0.105 35 125 43 0.09 31 5 2 0 4 2.843 5034 chr11 1272245 1272245 C T rs2943511 MUC5B Nonsynonymous SNV T4712M 0.114 0.104 0.099 51 134 40 0.131 29 7 2 3 3 5.945 5035 chr11 4661285 4661285 A G rs905871 OR51D1 Nonsynonymous SNV I89V 0.263 0.227 0.252 83 309 87 0.213 74 33 11 10 10 0.001 5036 chr1 160121899 160121899 A G rs77332724 ATP1A4 Synonymous SNV K23K 0.111 0.107 0.068 55 130 41 0.141 20 11 2 1 2 0.011 5037 chr11 125851055 125851055 A G rs564214 CDON Synonymous SNV N1055N 0.228 0.273 0.238 89 268 105 0.228 70 29 15 7 12 Benign 0.259 5038 chr1 166905927 166905927 C T rs33958744 ILDR2 Nonsynonymous SNV V202I 0.197 0.227 0.204 91 231 87 0.233 60 22 10 6 10 24.9 5039 chr11 46702920 46702920 T C rs4268467 ARHGAP1 Synonymous SNV K153K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.408 5040 chr11 1272709 1272709 G A rs3021155 MUC5B Nonsynonymous SNV A4867T 0.11 0.102 0.099 51 129 39 0.131 29 3 1 3 3 3.029 5041 chr11 125851181 125851181 G A rs684805 CDON Synonymous SNV N1013N 0.227 0.268 0.238 89 267 103 0.228 70 29 16 7 12 Benign 7.305 5042 chr1 160134205 160134205 C T rs11265338 ATP1A4 Synonymous SNV A346A 0.613 0.612 0.646 236 720 235 0.605 190 229 73 61 71 13.2 5043 chr11 4674575 4674575 G A rs3817098 OR51E1 Synonymous SNV P273P 0.51 0.479 0.486 182 599 184 0.467 143 147 45 36 45 2.777 5044 chr1 167095163 167095163 G C rs267745 DUSP27 Nonsynonymous SNV E265D 0.505 0.51 0.514 198 593 196 0.508 151 147 51 33 49 0.06 5045 chr11 125871715 125871715 G A rs12274923 CDON Nonsynonymous SNV A686V 0.155 0.169 0.163 58 182 65 0.149 48 8 7 4 7 Benign 12.25 5046 chr11 1272754 1272754 A G rs3021156 MUC5B Nonsynonymous SNV T4882A 0.116 0.109 0.099 51 136 42 0.131 29 4 1 3 3 1.357 5047 chr11 46889607 46889607 C T rs111426027 LRP4 Synonymous SNV V1670V 0.011 0.016 0.031 5 13 6 0.013 9 0 0 0 0 Benign 11.57 5048 chr11 124294349 124294349 C A rs7116575 OR8B4 Nonsynonymous SNV C140F 0.089 0.081 0.092 44 104 31 0.113 27 5 2 1 1 24.8 5049 chr1 167095765 167095765 G A rs6668826 DUSP27 Nonsynonymous SNV R466H 0.179 0.172 0.221 76 210 66 0.195 65 16 8 6 10 11.41 5050 chr11 46890165 46890165 C T rs3816614 LRP4 Nonsynonymous SNV R1646Q 0.813 0.859 0.786 313 955 330 0.803 231 390 140 98 125 Benign 22.7 5051 chr11 1309956 1309956 C T rs3750920 TOLLIP Synonymous SNV P89P 0.435 0.461 0.432 174 511 177 0.446 127 104 38 28 38 16.86 5052 chr1 167095881 167095881 G A rs3795605 DUSP27 Nonsynonymous SNV A505T 0.179 0.172 0.221 76 210 66 0.195 65 16 8 6 10 0.137 5053 chr11 46898771 46898771 T C rs6485702 LRP4 Nonsynonymous SNV I1086V 0.749 0.747 0.731 277 879 287 0.71 215 331 109 85 99 Benign 7.073 5054 chr11 128842873 128842873 T C rs581258 ARHGAP32 Synonymous SNV E813E 0.141 0.133 0.153 58 165 51 0.149 45 13 2 4 2 3.258 5055 chr11 128772452 128772452 C T rs11221503 C11orf45 Synonymous SNV X146X 0.201 0.203 0.153 83 236 78 0.213 45 27 8 3 8 9.326 5056 chr1 167097739 167097739 C A rs2281959 DUSP27 Nonsynonymous SNV T1124N 0.346 0.38 0.398 130 406 146 0.333 117 66 29 22 21 0.943 5057 chr11 46914583 46914583 T C rs10838631 LRP4 Synonymous SNV K546K 0.976 0.971 0.952 379 1146 373 0.972 280 559 181 133 184 Benign 9.028 5058 chr11 129321066 129321066 C T rs10791011 BARX2 Synonymous SNV P203P 0.158 0.185 0.146 61 186 71 0.156 43 22 7 3 8 14.88 5059 chr11 46914598 46914598 A G rs10769215 LRP4 Synonymous SNV D541D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 6.695 5060 chr1 167817639 167817639 A G rs203795 ADCY10 Synonymous SNV G646G 0.623 0.617 0.694 239 731 237 0.613 204 223 75 75 70 0.003 5061 chr11 129746707 129746707 G T rs2229650 NFRKB Synonymous SNV G577G 0.209 0.201 0.241 96 245 77 0.246 71 28 8 5 16 11.66 5062 chr11 4703165 4703165 C A rs1123991 OR51E2 Synonymous SNV V259V 0.784 0.839 0.82 323 921 322 0.828 241 363 135 94 134 10.71 5063 chr1 167849414 167849414 A G rs203849 ADCY10 Synonymous SNV G232G 0.554 0.56 0.534 217 650 215 0.556 157 183 65 43 64 0.015 5064 chr11 47188314 47188314 T C rs4752820 ARFGAP2 Synonymous SNV A415A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.099 5065 chr1 167906239 167906239 A C rs203788 DCAF6 Synonymous SNV R30R 0.966 0.948 0.929 383 1134 364 0.982 273 567 182 136 191 4.587 5066 chr11 47188411 47188411 C T rs3740691 ARFGAP2 Nonsynonymous SNV S383N 0.32 0.372 0.364 142 376 143 0.364 107 62 22 19 31 13.95 5067 chr11 129754668 129754668 T C rs2303662 NFRKB Synonymous SNV T263T 0.189 0.193 0.241 89 222 74 0.228 71 20 6 6 14 1.49 5068 chr11 1298430 1298430 C A rs5744015 TOLLIP Nonsynonymous SNV A172S 0.042 0.036 0.051 12 49 14 0.031 15 0 0 0 1 13.98 5069 chr11 134158745 134158745 A G rs3824995 GLB1L3 Synonymous SNV S230S 0.17 0.148 0.194 58 200 57 0.149 57 15 8 8 5 6.658 5070 chr1 168013850 168013850 T C rs11558511 DCAF6 Nonsynonymous SNV V400A 0.203 0.227 0.255 88 238 87 0.226 75 22 13 11 6 8.055 5071 chr11 47238522 47238522 T C rs326212 DDB2 Synonymous SNV T126T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.287 5072 chr11 12903443 12903443 C T rs2304733 TEAD1 Synonymous SNV D171D 0.31 0.26 0.293 103 364 100 0.264 86 42 6 14 13 13.43 5073 chr11 47270255 47270255 C T rs2167079 ACP2 Nonsynonymous SNV R29Q 0.198 0.221 0.201 97 232 85 0.249 59 20 9 6 13 Benign 22.6 5074 chr11 129993566 129993566 T C APLP2 Nonsynonymous SNV F328L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 5075 chr1 168014204 168014204 T A rs41271647 DCAF6 Nonsynonymous SNV L442H 0.126 0.112 0.085 45 148 43 0.115 25 9 4 1 1 18.96 5076 chr11 47298360 47298360 G A rs326214 MADD Synonymous SNV E347E 0.802 0.781 0.793 294 941 300 0.754 233 374 116 93 110 11.14 5077 chr11 129785594 129785594 G A rs3734073 PRDM10 Synonymous SNV P743P 0.328 0.341 0.337 140 385 131 0.359 99 61 19 22 21 14.56 5078 chr11 134244123 134244123 C G rs3741097 GLB1L2 Synonymous SNV T560T 0.185 0.203 0.173 76 217 78 0.195 51 19 9 3 10 6.526 5079 chr11 124481494 124481494 T C rs35027803 PANX3 Synonymous SNV D14D 0.075 0.076 0.051 26 88 29 0.067 15 3 2 0 0 2.488 5080 chr1 169510475 169510475 G T rs1046712 F5 Nonsynonymous SNV L1285I 0.164 0.201 0.224 73 192 77 0.187 66 22 7 7 8 Benign/Likely benign 0.016 5081 chr11 47306628 47306628 G A rs3736101 MADD Nonsynonymous SNV R765Q 0.068 0.091 0.078 33 80 35 0.085 23 3 2 2 2 19.86 5082 chr11 1481930 1481930 A G rs4963048 BRSK2 Nonsynonymous SNV T730A 0.602 0.628 0.18 257 707 241 0.659 53 205 75 23 85 0.003 5083 chr11 47331116 47331116 T C rs1017594 MADD Synonymous SNV L1268L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.619 5084 chr1 169519049 169519049 T C rs6025 F5 Nonsynonymous SNV Q534R 0.975 0.977 0.973 379 1145 375 0.972 286 559 183 139 184 drug response 9.413 5085 chr11 47354787 47354787 C T rs1052373 MYBPC3 Synonymous SNV E1096E 0.193 0.214 0.197 95 227 82 0.244 58 21 8 6 11 Benign 10.48 5086 chr11 47369443 47369443 G A rs11570058 MYBPC3 Synonymous SNV T262T 0.114 0.117 0.099 46 134 45 0.118 29 6 3 2 3 Benign 11.02 5087 chr1 160969678 160969678 G T rs199703485 F11R Nonsynonymous SNV R179S 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 23 5088 chr1 169529826 169529826 C A rs6022 F5 Synonymous SNV S184S 0.182 0.156 0.17 84 214 60 0.215 50 16 3 4 9 Benign/Likely benign 14.01 5089 chr11 47370041 47370041 T C rs3729989 MYBPC3 Nonsynonymous SNV S236G 0.118 0.117 0.119 46 139 45 0.118 35 7 3 2 2 Benign/Likely benign 5.127 5090 chr1 169529973 169529973 C T rs6029 F5 Synonymous SNV A135A 0.181 0.156 0.163 84 212 60 0.215 48 16 3 3 9 Benign/Likely benign 16.45 5091 chr11 130289117 130289117 T C rs2291348 ADAMTS8 Nonsynonymous SNV N264S 0.026 0.016 0.024 12 31 6 0.031 7 0 0 0 0 0.076 5092 chr11 47371599 47371599 G A rs150291001 MYBPC3 Synonymous SNV F157F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.87 5093 chr1 169541513 169541513 C G rs6019 F5 Nonsynonymous SNV D107H 0.037 0.034 0.058 9 43 13 0.023 17 2 1 1 0 Benign/Likely benign 21.2 5094 chr11 47431728 47431728 A G rs2010519 SLC39A13 Nonsynonymous SNV E28G 0.998 1 0.99 387 1172 384 0.992 291 585 192 145 192 Benign 0.519 5095 chr1 169562904 169562904 C T rs6128 SELP Synonymous SNV T782T 0.16 0.146 0.139 73 188 56 0.187 41 15 3 1 6 9.591 5096 chr11 47460306 47460306 A G rs7126210 RAPSN Synonymous SNV P322P 0.807 0.805 0.793 311 948 309 0.797 233 383 124 94 125 Benign 5.695 5097 chr11 47463220 47463220 C T rs45603036 RAPSN Synonymous SNV Q285Q 0.121 0.13 0.133 47 142 50 0.121 39 9 5 2 3 Benign 10.15 5098 chr1 169564037 169564037 C T rs144853111 SELP Nonsynonymous SNV G727E 0.01 0.01 0.007 1 12 4 0.003 2 0 0 0 0 16.68 5099 chr11 126174164 126174164 C T rs695029 DCPS Synonymous SNV F63F 0.196 0.195 0.15 83 230 75 0.213 44 23 6 2 5 18.87 5100 chr11 130542882 130542882 C T rs7933829 C11orf44 0.206 0.188 0.204 86 242 72 0.221 60 26 8 11 7 8.869 5101 chr11 47469439 47469439 A G rs7111873 RAPSN Synonymous SNV Y152Y 0.807 0.805 0.793 311 948 309 0.797 233 383 124 94 125 Benign 0.09 5102 chr1 161132777 161132777 G A rs17356051 USP21 Nonsynonymous SNV G350D 0.058 0.06 0.085 14 68 23 0.036 25 0 1 2 0 24 5103 chr11 47609867 47609867 G A rs4486587 FAM180B Nonsynonymous SNV A133T 0.989 0.979 0.969 385 1161 376 0.987 285 574 185 138 190 10.1 5104 chr1 169565346 169565346 C A rs6133 SELP Nonsynonymous SNV V640L 0.099 0.099 0.133 44 116 38 0.113 39 6 3 3 4 10.83 5105 chr11 47640429 47640429 G C rs1064608 MTCH2 Nonsynonymous SNV P281A 0.367 0.352 0.378 116 431 135 0.297 111 94 15 27 13 25.4 5106 chr11 1606121 1606150 CCACAGCCACCCTTGGATCCCCCACAAGAG - rs775990209 KRTAP5-1 C112_S121del 0.442 0.458 0.228 179 519 176 0.459 67 141 55 18 51 5107 chr1 169566308 169566308 G A rs6132 SELP Synonymous SNV N604N 0.099 0.099 0.133 43 116 38 0.11 39 6 3 3 4 4.242 5108 chr11 1651169 1651169 T C rs71454095 KRTAP5-5 Synonymous SNV S33S 0.506 0.57 0.408 215 594 219 0.551 120 155 61 27 58 0.012 5109 chr11 47701528 47701528 C A rs12286721 AGBL2 Nonsynonymous SNV M671I 0.492 0.471 0.524 179 578 181 0.459 154 154 37 42 44 14.22 5110 chr11 1651540 1651540 C G rs61867581 KRTAP5-5 Nonsynonymous SNV S157C 0.493 0.57 0.435 211 579 219 0.541 128 153 61 27 58 0.003 5111 chr1 169566313 169566313 C T rs6127 SELP Nonsynonymous SNV D603N 0.568 0.523 0.534 230 667 201 0.59 157 187 51 42 67 0.505 5112 chr11 47745589 47745589 T C rs34242224 FNBP4 Nonsynonymous SNV I821V 0.071 0.068 0.058 29 83 26 0.074 17 1 2 3 3 0.011 5113 chr11 1651550 1651550 C T rs61867582 KRTAP5-5 Synonymous SNV C160C 0.491 0.57 0.435 211 577 219 0.541 128 154 61 26 58 0.015 5114 chr1 169566326 169566326 G A rs6135 SELP Synonymous SNV C598C 0.099 0.099 0.133 44 116 38 0.113 39 6 3 3 4 7.115 5115 chr11 130777886 130777886 G A rs2276098 SNX19 Synonymous SNV T49T 0.215 0.211 0.231 81 252 81 0.208 68 29 10 5 8 11.87 5116 chr1 169676486 169676486 A G rs1131498 SELL Nonsynonymous SNV F193L 0.301 0.284 0.293 101 353 109 0.259 86 52 20 15 13 16.01 5117 chr11 47834592 47834592 G A rs7110289 NUP160 Synonymous SNV D598D 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 10.13 5118 chr11 1260130 1260130 C T rs776762031 MUC5B Synonymous SNV C1109C 0.006 0 0 0 7 0 0 0 0 0 0 0 15.04 5119 chr1 161683136 161683136 G A rs11746 FCRLA Nonsynonymous SNV R114Q 0.537 0.549 0.5 227 631 211 0.582 147 167 56 37 66 8.465 5120 chr11 1651614 1651643 TACTGCTGCCAGTCCAGCTGCTGTAAGCCC - rs576867883 KRTAP5-5 Y192_P201del 0.437 0.484 0.415 182 513 186 0.467 122 110 42 25 42 5121 chr11 47857253 47857253 T C rs3816605 NUP160 Nonsynonymous SNV T351A 0.509 0.526 0.476 209 598 202 0.536 140 164 48 35 58 6.611 5122 chr11 1651652 1651652 C T rs111318317 KRTAP5-5 Synonymous SNV C194C 0.069 0.078 0.085 33 81 30 0.085 25 2 1 0 2 2.415 5123 chr1 169762807 169762807 T G rs10489177 METTL18 Nonsynonymous SNV E10D 0.156 0.174 0.163 65 183 67 0.167 48 17 7 2 2 9.518 5124 chr11 124310518 124310518 C T rs140865479 OR8B8 Nonsynonymous SNV G155E 0.009 0.01 0.01 5 11 4 0.013 3 0 0 0 0 23.7 5125 chr11 16812397 16812397 G A rs35142528 PLEKHA7 Synonymous SNV P1000P 0.09 0.083 0.061 34 106 32 0.087 18 1 1 1 1 11.1 5126 chr11 47861857 47861857 A G rs74873109 NUP160 Nonsynonymous SNV C200R 0.06 0.052 0.051 22 71 20 0.056 15 1 2 2 1 4.635 5127 chr1 169768080 169768080 C A rs6668114 C1orf112 Nonsynonymous SNV D44E 0.7 0.716 0.721 280 822 275 0.718 212 286 98 74 97 21.3 5128 chr1 161696782 161696782 G C rs11585450 FCRLB Nonsynonymous SNV R233P 0.507 0.523 0.439 212 595 201 0.544 129 162 58 36 63 5.179 5129 chr11 4791111 4791111 T C rs17324812 OR51F1 Nonsynonymous SNV T20A 0.224 0.203 0.238 81 263 78 0.208 70 32 11 6 9 8.126 5130 chr1 169823660 169823660 C T rs1062976 SCYL3 Synonymous SNV V586V 0.338 0.318 0.32 130 397 122 0.333 94 55 19 15 19 12.1 5131 chr1 169823718 169823718 T C rs4656197 SCYL3 Nonsynonymous SNV Q567R 0.702 0.719 0.731 280 824 276 0.718 215 288 98 74 97 0.006 5132 chr11 48118347 48118347 - A rs11382316 MIR3161 0 0 0.847 0 0 0 0 249 0 0 105 0 5133 chr11 133815981 133815981 C G rs10894768 IGSF9B Synonymous SNV P79P 0.294 0.341 0.316 126 345 131 0.323 93 48 21 14 20 8.799 5134 chr11 48145247 48145247 T C rs2270992 PTPRJ Synonymous SNV T233T 0.586 0.565 0.571 223 688 217 0.572 168 190 58 48 62 0.19 5135 chr1 161751741 161751741 A G rs1058405 ATF6 Nonsynonymous SNV M67V 0.25 0.279 0.211 110 293 107 0.282 62 37 17 6 10 Benign 12.51 5136 chr11 134047243 134047243 T C rs2276265 NCAPD3 Synonymous SNV V826V 0.296 0.289 0.313 114 348 111 0.292 92 54 15 11 13 7.975 5137 chr11 48166267 48166267 G C rs4752904 PTPRJ Nonsynonymous SNV E872D 0.572 0.589 0.585 224 672 226 0.574 172 186 61 53 65 0.001 5138 chr1 170501385 170501385 A C rs7531125 GORAB Synonymous SNV G32G 0.999 1 0.983 389 1173 384 0.997 289 586 192 142 194 6.94 5139 chr11 17333663 17333663 G A rs2521998 NUCB2, NUCB2 Nonsynonymous SNV S303N 0.92 0.948 0.983 377 1080 364 0.967 289 540 182 144 188 11.16 5140 chr1 170934394 170934394 T C rs16863872 MROH9 Nonsynonymous SNV Y160H 0.106 0.107 0.129 44 125 41 0.113 38 3 2 0 3 0.003 5141 chr11 48238421 48238421 T G rs10769329 OR4B1 Synonymous SNV A20A 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.02 5142 chr11 17351683 17351683 C G rs757081 NUCB2 Nonsynonymous SNV Q308E 0.246 0.292 0.224 94 289 112 0.241 66 38 11 12 14 17.24 5143 chr11 48267463 48267463 A T OR4X2 Nonsynonymous SNV I270L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.042 5144 chr1 170959029 170959029 C T rs16863922 MROH9 Synonymous SNV L305L 0.293 0.255 0.238 102 344 98 0.262 70 52 12 8 12 7.782 5145 chr11 48285842 48285842 A G rs1503193 OR4X1 Nonsynonymous SNV R144G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.017 5146 chr1 170959088 170959088 C T rs28634500 MROH9 Synonymous SNV C324C 0.294 0.255 0.245 103 345 98 0.264 72 52 12 8 12 4.185 5147 chr11 17393644 17393644 A G rs12791318 NCR3LG1 Nonsynonymous SNV H317R 0.237 0.224 0.19 79 278 86 0.203 56 40 10 5 7 0.001 5148 chr1 161969986 161969986 G A rs4656343 OLFML2B Nonsynonymous SNV P290L 0.027 0.021 0.007 9 32 8 0.023 2 0 0 0 0 19 5149 chr1 171076966 171076966 G A rs2266782 FMO3 Nonsynonymous SNV E95K 0.303 0.289 0.316 143 356 111 0.367 93 59 15 17 30 21.6 5150 chr11 48285856 48285856 C T rs10838850 OR4X1 Synonymous SNV G148G 0.694 0.698 0.684 273 815 268 0.7 201 281 90 65 94 11.12 5151 chr11 17408478 17408478 A G KCNJ11 Synonymous SNV D387D 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.066 5152 chr11 48285982 48285984 CTT - rs57294041 OR4X1 F192del 0.693 0.698 0.684 273 813 268 0.7 201 279 90 65 94 5153 chr1 171483717 171483717 A C rs1055417 PRRC2C Synonymous SNV A109A 0.197 0.208 0.201 79 231 80 0.203 59 19 10 10 10 5.688 5154 chr11 48286231 48286231 T A rs10838851 OR4X1 Stop gain Y273X 0.694 0.698 0.684 273 815 268 0.7 201 281 90 65 94 35 5155 chr11 134202036 134202036 C T rs7124693 GLB1L2 Synonymous SNV L27L 0.231 0.255 0.187 97 271 98 0.249 55 34 8 7 14 20.6 5156 chr1 171486912 171486912 G A rs10913157 PRRC2C Nonsynonymous SNV A235T 0.119 0.128 0.122 48 140 49 0.123 36 11 3 3 3 16.28 5157 chr1 161993192 161993192 T C rs12130792 OLFML2B Nonsynonymous SNV Y10C 0.12 0.096 0.075 41 141 37 0.105 22 12 0 0 1 3.209 5158 chr11 48286256 48286256 C T rs10838852 OR4X1 Nonsynonymous SNV P282S 0.571 0.563 0.565 223 670 216 0.572 166 184 58 48 60 24.1 5159 chr11 13514053 13514053 G T rs6256 PTH Synonymous SNV R83R 0.204 0.159 0.211 62 239 61 0.159 62 22 7 10 5 Benign 6.569 5160 chr1 171509327 171509327 G A rs760644 PRRC2C Nonsynonymous SNV A906T 0.854 0.836 0.779 327 1003 321 0.838 229 426 137 91 137 2.021 5161 chr11 1432691 1432691 T C rs61868960 BRSK2 Synonymous SNV C19C 0.397 0.388 0.374 175 466 149 0.449 110 94 23 23 40 0.003 5162 chr11 48346579 48346579 C A rs72911452 OR4C3 Nonsynonymous SNV D2E 0.499 0.497 0.5 195 586 191 0.5 147 0 0 0 0 0.018 5163 chr1 171509414 171509414 C G rs111928000 PRRC2C Nonsynonymous SNV P935A 0.004 0.016 0.02 3 5 6 0.008 6 0 0 0 0 0.001 5164 chr11 48346588 48346588 A C rs75900655 OR4C3 Nonsynonymous SNV Q5H 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.102 5165 chr11 129801124 129801124 T C rs2277032 PRDM10 Synonymous SNV Q353Q 0.071 0.047 0.054 30 83 18 0.077 16 6 1 0 3 3.676 5166 chr1 171509671 171509671 A G rs78008372 PRRC2C Synonymous SNV V1020V 0.004 0.016 0.02 3 5 6 0.008 6 0 0 0 0 0.194 5167 chr11 48346604 48346604 T G rs75647397 OR4C3 Nonsynonymous SNV F11V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 5.843 5168 chr11 130058437 130058437 G A rs62621285 ST14 Nonsynonymous SNV R85H 0.015 0.023 0.027 8 18 9 0.021 8 0 0 0 0 25.2 5169 chr1 171511039 171511039 C G rs1687064 PRRC2C Synonymous SNV S1476S 0.856 0.836 0.782 327 1005 321 0.838 230 428 137 91 137 9.37 5170 chr11 14913575 14913575 G A rs12794714 CYP2R1 Synonymous SNV S59S 0.532 0.518 0.347 191 625 199 0.49 102 162 55 29 54 12.26 5171 chr11 48346615 48346615 G A rs73463988 OR4C3 Synonymous SNV G14G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.624 5172 chr1 171514731 171514731 C G rs235468 PRRC2C Nonsynonymous SNV S1624C 0.846 0.831 0.759 326 993 319 0.836 223 428 137 91 137 14.01 5173 chr1 164529120 164529120 G A rs2275558 PBX1 Nonsynonymous SNV G21S 0.197 0.146 0.129 69 231 56 0.177 38 30 2 4 6 16.87 5174 chr11 48346661 48346669 TTGCTGATC - rs138704181 OR4C3 L30_I32del 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 5175 chr11 48346681 48346681 G A rs78490540 OR4C3 Synonymous SNV T36T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 9.796 5176 chr1 171526570 171526570 G A rs1687057 PRRC2C Synonymous SNV P1771P 0.856 0.836 0.782 327 1005 321 0.838 230 428 137 91 137 11.19 5177 chr11 48346729 48346729 G C rs73463990 OR4C3 Synonymous SNV T52T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.017 5178 chr1 165218679 165218679 C T rs9970062 LMX1A Synonymous SNV L154L 0.394 0.43 0.384 165 463 165 0.423 113 95 36 21 35 14.7 5179 chr11 48346791 48346791 C T rs73463994 OR4C3 Nonsynonymous SNV S73F 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 18.94 5180 chr1 171556165 171556165 G C rs235501 PRRC2C Synonymous SNV S2589S 0.855 0.833 0.779 324 1004 320 0.831 229 427 137 91 134 13.29 5181 chr11 17542439 17542439 T C rs2240487 USH1C Synonymous SNV P377P 0.545 0.544 0.435 216 640 209 0.554 128 175 60 26 61 Benign 0.975 5182 chr11 125766022 125766022 C T rs117878071 PUS3 Nonsynonymous SNV R53H 0.011 0.023 0 5 13 9 0.013 0 0 1 0 0 Likely benign 28.7 5183 chr11 48346822 48346822 A C rs73463997 OR4C3 Synonymous SNV S83S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.003 5184 chr1 171751236 171751236 T C rs2294720 EEF1AKNMT Synonymous SNV H43H 0.446 0.401 0.425 196 524 154 0.503 125 123 31 23 53 8.736 5185 chr11 17573567 17573567 C T rs11823045 OTOG Synonymous SNV S91S 0.03 0.023 0.02 9 35 9 0.023 6 0 0 0 0 Benign 11.85 5186 chr11 48346843 48346843 C T rs73463998 OR4C3 Synonymous SNV I90I 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 8.854 5187 chr1 171753039 171753039 A G rs2232816 EEF1AKNMT Nonsynonymous SNV M105V 0.214 0.195 0.259 103 251 75 0.264 76 28 8 10 10 5.023 5188 chr11 15170686 15170686 G A rs61877970 INSC Nonsynonymous SNV R36H 0.077 0.063 0.051 32 90 24 0.082 15 4 1 0 0 19.14 5189 chr11 48346916 48346916 G C rs77069283 OR4C3 Nonsynonymous SNV V115L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 10.62 5190 chr11 17580175 17580175 A T rs7130190 OTOG Nonsynonymous SNV T375S 0.147 0.154 0.153 65 172 59 0.167 45 14 6 1 9 Benign 15.78 5191 chr1 165648709 165648709 C T rs1143661 ALDH9A1 Synonymous SNV A300A 0.071 0.096 0.071 29 83 37 0.074 21 2 2 1 2 15.46 5192 chr11 1651120 1651120 G T rs66665994 KRTAP5-5 Nonsynonymous SNV R17L 0.291 0.326 0.167 131 342 125 0.336 49 125 47 18 47 16.1 5193 chr1 171755170 171755170 G A rs2232818 EEF1AKNMT Synonymous SNV S199S 0.217 0.195 0.259 103 255 75 0.264 76 28 8 10 10 13.47 5194 chr11 48346924 48346924 T C rs72911454 OR4C3 Synonymous SNV A117A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.033 5195 chr11 17593709 17593709 T C rs7106548 OTOG Nonsynonymous SNV S692P 0.398 0.448 0.384 167 467 172 0.428 113 97 36 20 30 Benign 3.006 5196 chr1 172356437 172356437 A G rs6688654 DNM3 Synonymous SNV T737T 0.996 0.995 0.983 384 1169 382 0.985 289 582 190 142 189 0.162 5197 chr11 48346932 48346932 G A rs80285195 OR4C3 Nonsynonymous SNV R120H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 24 5198 chr11 1651161 1651161 T C rs71454094 KRTAP5-5 Nonsynonymous SNV C31R 0.376 0.43 0.211 171 442 165 0.438 62 145 55 18 56 9.605 5199 chr1 172437592 172437592 G A rs1129942 C1orf105 Nonsynonymous SNV S127N 0.861 0.862 0.867 331 1011 331 0.849 255 433 142 111 140 8.033 5200 chr11 17596313 17596313 G A rs4757548 OTOG Synonymous SNV P792P 0.37 0.419 0.347 151 434 161 0.387 102 85 31 15 23 Benign 6.29 5201 chr11 128868335 128868335 C T rs371266707 ARHGAP32 Synonymous SNV T344T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 17.22 5202 chr11 48346961 48346961 A T rs75493089 OR4C3 Nonsynonymous SNV N130Y 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.003 5203 chr11 17600033 17600033 G A rs2355466 OTOG Nonsynonymous SNV A919T 0.359 0.406 0.357 142 422 156 0.364 105 78 29 16 19 Benign 17.19 5204 chr1 172501643 172501643 T C rs2239816 SUCO Nonsynonymous SNV S11P 0.347 0.263 0.354 108 407 101 0.277 104 68 15 20 15 4.802 5205 chr11 48346962 48346962 A G rs74589050 OR4C3 Nonsynonymous SNV N130S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 13.92 5206 chr11 1651199 1651199 - GGCCGTGGCTCC rs748171191 KRTAP5-5 G44_C45insRGSG 0.049 0.089 0.031 30 57 34 0.077 9 6 3 1 3 5207 chr11 17614829 17614829 C T rs75133799 OTOG Synonymous SNV N1044N 0.026 0.018 0.01 4 31 7 0.01 3 0 0 0 0 Benign/Likely benign 17.34 5208 chr1 172502340 172502340 T C rs2285143 SUCO Nonsynonymous SNV L117P 0.29 0.19 0.19 97 341 73 0.249 56 69 14 15 16 7.657 5209 chr1 167097567 167097567 G A rs61748784 DUSP27 Nonsynonymous SNV D1067N 0.167 0.211 0.177 56 196 81 0.144 52 16 6 7 4 6.873 5210 chr11 48346999 48346999 T G rs72473367 OR4C3 Synonymous SNV L142L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.244 5211 chr11 48347014 48347014 G A rs72473368 OR4C3 Stop gain W147X 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 37 5212 chr1 172502479 172502479 T C rs2285144 SUCO Synonymous SNV I163I 0.598 0.539 0.537 221 702 207 0.567 158 217 59 47 59 6.824 5213 chr11 1651199 1651199 - GGCTGTGGCTCC rs71025763 KRTAP5-5 G46_G47insSGCG 0.262 0.268 0.095 112 308 103 0.287 28 95 28 7 34 5214 chr11 17631751 17631751 C T rs2041028 OTOG Nonsynonymous SNV P1647L 0.335 0.378 0.357 148 393 145 0.379 105 70 21 17 23 Benign 6.13 5215 chr11 16837792 16837792 C T rs148588380 PLEKHA7 Nonsynonymous SNV R629Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 5216 chr11 48347023 48347023 C T rs67077733 OR4C3 Synonymous SNV G150G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 8.549 5217 chr1 172547465 172547465 A G rs2285664 SUCO Synonymous SNV E419E 0.342 0.258 0.34 107 401 99 0.274 100 66 14 18 15 9.872 5218 chr11 48347067 48347067 C T rs73464001 OR4C3 Nonsynonymous SNV P165L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 26.7 5219 chr1 173474429 173474429 T C rs12026637 SLC9C2 Synonymous SNV Q1089Q 0.141 0.143 0.187 44 165 55 0.113 55 13 5 6 2 0.016 5220 chr1 167825485 167825485 T C rs2071921 ADCY10 Nonsynonymous SNV I544V 0.371 0.393 0.412 138 435 151 0.354 121 74 31 30 27 0.001 5221 chr11 17632306 17632306 C T rs1003490 OTOG Nonsynonymous SNV A1832V 0.148 0.164 0.167 51 174 63 0.131 49 12 3 1 2 Benign 23.4 5222 chr11 130066261 130066261 C A rs17667603 ST14 Nonsynonymous SNV R381S 0.066 0.063 0.044 27 77 24 0.069 13 1 0 0 0 19.36 5223 chr1 173516871 173516871 G C rs16846206 SLC9C2 Nonsynonymous SNV A505G 0.142 0.151 0.194 45 167 58 0.115 57 13 6 7 2 10.9 5224 chr11 48347100 48347100 C T rs73465905 OR4C3 Nonsynonymous SNV A176V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 12.62 5225 chr11 1651555 1651555 C A rs147101544 KRTAP5-5 Nonsynonymous SNV P162H 0.079 0.096 0.051 34 93 37 0.087 15 5 1 0 0 13.17 5226 chr11 17632651 17632651 C T rs7111528 OTOG Nonsynonymous SNV T1947M 0.333 0.378 0.357 149 391 145 0.382 105 71 21 17 23 Benign 6.652 5227 chr1 173516903 173516903 A G rs10494490 SLC9C2 Synonymous SNV N494N 0.145 0.154 0.211 51 170 59 0.131 62 14 6 10 2 0.056 5228 chr11 48347124 48347124 A G rs79019124 OR4C3 Nonsynonymous SNV E184G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 22.6 5229 chr11 134064040 134064040 T G NCAPD3 Nonsynonymous SNV L427F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.21 5230 chr1 173878832 173878832 T C rs5878 SERPINC1 Synonymous SNV Q337Q 0.474 0.482 0.439 170 557 185 0.436 129 131 41 26 41 Benign 0.112 5231 chr11 1651595 1651598 GTCC - rs751875530 KRTAP5-5 S176Afs*74 0.079 0.096 0.051 34 93 37 0.087 15 5 1 0 0 5232 chr11 17663416 17663416 G A rs12422210 OTOG Nonsynonymous SNV R2750Q 0.147 0.159 0.167 63 173 61 0.162 49 9 2 2 5 Benign 15.73 5233 chr1 167973976 167973976 C T rs1060041 DCAF6 Synonymous SNV D410D 0.229 0.255 0.276 91 269 98 0.233 81 30 11 12 14 12.18 5234 chr11 1651600 1651625 GCTGCTGTAAGCCTTACTGCTGCCAG - rs757266560 KRTAP5-5 S177Ifs*5 0.079 0.096 0.051 34 93 37 0.087 15 5 1 0 0 5235 chr11 48347130 48347130 C G rs77395846 OR4C3 Nonsynonymous SNV A186G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 22.1 5236 chr1 173878862 173878862 T C rs5877 SERPINC1 Synonymous SNV V327V 0.471 0.479 0.435 170 553 184 0.436 128 129 41 26 41 Benign 0.099 5237 chr1 168059866 168059866 A G rs275149 GPR161 Synonymous SNV G302G 0.341 0.378 0.378 140 400 145 0.359 111 66 23 23 23 10.88 5238 chr11 17663444 17663444 C T rs10832824 OTOG Synonymous SNV C2759C 0.271 0.297 0.303 115 318 114 0.295 89 44 12 10 11 Benign 8.163 5239 chr1 174959116 174959116 A C rs41266062 RABGAP1L Nonsynonymous SNV Q247P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 8.648 5240 chr11 48347140 48347140 T C rs10838874 OR4C3 Synonymous SNV N189N 0.545 0.536 0.537 211 640 206 0.541 158 53 14 11 16 0.002 5241 chr1 169293721 169293721 G A rs1140523 NME7 Synonymous SNV F7F 0.399 0.38 0.442 142 469 146 0.364 130 99 32 28 28 14.9 5242 chr11 17663742 17663742 G C rs2023483 OTOG Synonymous SNV L2800L 0.229 0.253 0.265 96 269 97 0.246 78 28 8 7 8 Benign 4.716 5243 chr11 48347142 48347142 C T rs79891698 OR4C3 Nonsynonymous SNV T190M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 22.9 5244 chr1 175046789 175046789 A G rs2072032 TNN Nonsynonymous SNV R79G 0.487 0.479 0.452 173 572 184 0.444 133 145 42 29 37 0.004 5245 chr1 169483637 169483637 T C rs372005449 F5 Nonsynonymous SNV I2197V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Uncertain significance 16.25 5246 chr11 17667439 17667439 G C rs11024357 OTOG Nonsynonymous SNV W2909S 0.225 0.185 0.218 88 264 71 0.226 64 27 9 6 9 Benign 28.8 5247 chr11 48347144 48347144 T C rs79124801 OR4C3 Nonsynonymous SNV Y191H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 5248 chr11 134237200 134237200 C T rs117422861 GLB1L2 Nonsynonymous SNV S285L 0.018 0.016 0.027 9 21 6 0.023 8 0 0 0 0 22.7 5249 chr1 169484767 169484767 A G rs9332701 F5 Nonsynonymous SNV M2148T 0.019 0.018 0.01 13 22 7 0.033 3 1 0 0 0 Benign/Likely benign 25.9 5250 chr11 130332457 130332457 T C rs116897071 ADAMTS15 Nonsynonymous SNV Y442H 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 27.4 5251 chr1 175049379 175049379 G A rs16847812 TNN Nonsynonymous SNV D289N 0.126 0.107 0.116 45 148 41 0.115 34 6 2 1 1 23.2 5252 chr11 48347267 48347267 T C rs73465910 OR4C3 Nonsynonymous SNV C232R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 5253 chr11 17190890 17190890 A C rs61755370 PIK3C2A Nonsynonymous SNV F133L 0.022 0.018 0.017 15 26 7 0.038 5 0 0 0 0 0.45 5254 chr11 125831778 125831778 G C CDON Nonsynonymous SNV P1158A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.243 5255 chr11 17408838 17408838 G C rs5216 KCNJ11 Synonymous SNV L267L 0.025 0.018 0.034 12 29 7 0.031 10 0 0 0 0 Conflicting interpretations of pathogenicity 0.01 5256 chr1 169498975 169498975 T C rs6030 F5 Nonsynonymous SNV M1764V 0.405 0.378 0.316 135 476 145 0.346 93 101 26 15 25 Conflicting interpretations of pathogenicity 0.005 5257 chr1 175054548 175054548 C T rs1573758 TNN Synonymous SNV H414H 0.489 0.479 0.452 175 574 184 0.449 133 145 42 29 38 9.014 5258 chr11 18319180 18319180 G T rs7128017 HPS5 Nonsynonymous SNV L303M 0.135 0.102 0.163 56 159 39 0.144 48 12 1 2 2 Benign 23.5 5259 chr11 48347306 48347306 G T rs73465911 OR4C3 Nonsynonymous SNV V245F 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 20.8 5260 chr1 175087729 175087729 T C rs6696455 TNN Nonsynonymous SNV W807R 0.416 0.451 0.422 179 488 173 0.459 124 105 42 30 39 0.002 5261 chr1 169510233 169510233 G A rs9332607 F5 Synonymous SNV T1365T 0.33 0.323 0.35 131 387 124 0.336 103 71 19 20 25 Benign/Likely benign 0.701 5262 chr11 48347342 48347342 G A rs76958755 OR4C3 Nonsynonymous SNV V257M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 5263 chr11 17390443 17390443 C A rs78608838 NCR3LG1 Nonsynonymous SNV H264N 0.1 0.115 0.133 51 117 44 0.131 39 3 4 2 3 0.002 5264 chr1 175087884 175087884 C T rs2269654 TNN Synonymous SNV G858G 0.136 0.112 0.119 42 160 43 0.108 35 9 4 1 1 8.269 5265 chr1 169510524 169510524 A G rs1800594 F5 Synonymous SNV S1268S 0.403 0.385 0.316 135 473 148 0.346 93 100 26 14 24 Benign/Likely benign 0.392 5266 chr11 48347346 48347346 A T rs74590631 OR4C3 Nonsynonymous SNV H258L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 11.98 5267 chr1 175087885 175087885 A G rs6694078 TNN Nonsynonymous SNV M859V 0.136 0.112 0.119 42 160 43 0.108 35 9 4 1 1 0.001 5268 chr1 169511555 169511555 T C rs6032 F5 Nonsynonymous SNV K925E 0.316 0.299 0.245 123 371 115 0.315 72 61 16 6 20 Benign/Likely benign 0.001 5269 chr11 48347358 48347358 C T rs76274696 OR4C3 Nonsynonymous SNV T262I 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 14.78 5270 chr11 125875834 125875834 C T rs35884952 CDON Synonymous SNV K557K 0.012 0.013 0.01 11 14 5 0.028 3 0 0 0 0 Benign 11.32 5271 chr1 175092674 175092674 C T rs2285215 TNN Nonsynonymous SNV P930L 0.616 0.62 0.575 240 723 238 0.615 169 219 73 46 77 11.63 5272 chr1 169511734 169511734 T C rs4525 F5 Nonsynonymous SNV H865R 0.315 0.299 0.245 123 370 115 0.315 72 60 16 6 20 Benign/Likely benign 0.004 5273 chr11 18487305 18487305 C G rs17851143 LDHAL6A Synonymous SNV P122P 0.174 0.138 0.16 69 204 53 0.177 47 20 6 3 6 1.914 5274 chr11 17408831 17408831 G C rs1800467 KCNJ11 Nonsynonymous SNV L270V 0.077 0.039 0.092 27 90 15 0.069 27 3 0 1 1 Benign/Likely benign 5.975 5275 chr11 1856344 1856344 C A rs57344881 SYT8 Nonsynonymous SNV H18Q 0.067 0.083 0.058 37 79 32 0.095 17 2 3 0 2 0.028 5276 chr11 48347363 48347363 C T rs77814753 OR4C3 Nonsynonymous SNV P264S 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 0.001 5277 chr1 175092707 175092707 C T rs10798333 TNN Nonsynonymous SNV T941M 0.365 0.346 0.293 145 428 133 0.372 86 74 27 15 24 23.4 5278 chr1 169511755 169511755 T C rs4524 F5 Nonsynonymous SNV K858R 0.315 0.299 0.245 123 370 115 0.315 72 60 16 6 20 Conflicting interpretations of pathogenicity 0.001 5279 chr11 48347392 48347392 T C rs79127479 OR4C3 Synonymous SNV Y273Y 0.491 0.49 0.497 192 577 188 0.492 146 0 0 0 0 0.001 5280 chr1 175113578 175113578 T C rs10912897 TNN Synonymous SNV N1217N 0.981 0.969 0.966 372 1152 372 0.954 284 566 181 137 177 0.273 5281 chr11 48347419 48347419 A G rs73465913 OR4C3 Synonymous SNV P282P 0.495 0.49 0.497 193 581 188 0.495 146 0 0 0 0 0.004 5282 chr1 169512027 169512027 T C rs6021 F5 Synonymous SNV S767S 0.316 0.299 0.245 123 371 115 0.315 72 61 16 6 20 Benign/Likely benign 0.013 5283 chr1 175129946 175129946 C - rs754204844 KIAA0040 K69Rfs*33 0.363 0.339 0.286 147 426 130 0.377 84 79 22 11 27 5284 chr11 17414570 17414570 C T rs8192690 ABCC8 Nonsynonymous SNV V1572I 0.097 0.104 0.126 49 114 40 0.126 37 3 2 2 3 Benign/Likely benign 12.72 5285 chr11 48387098 48387098 A C rs77594589 OR4C5 Nonsynonymous SNV V307G 0.5 0.5 0.418 195 587 192 0.5 123 0 0 0 0 24.2 5286 chr1 175129946 175129946 C T rs2072035 KIAA0040 Synonymous SNV K68K 0.431 0.477 0.473 155 506 183 0.397 139 115 48 37 31 10.61 5287 chr1 169512093 169512093 A G rs6017 F5 Synonymous SNV N745N 0.316 0.299 0.245 123 371 115 0.315 72 61 16 6 20 Benign/Likely benign 0.075 5288 chr11 17579783 17579783 C A rs61611064 OTOG Nonsynonymous SNV A318D 0.226 0.224 0.248 91 265 86 0.233 73 36 9 12 15 Benign 17.63 5289 chr1 175129948 175129955 TCTTCTTG - rs762930078 KIAA0040 N65Kfs*10 0.363 0.339 0.286 147 426 130 0.377 84 79 22 11 27 5290 chr11 48387107 48387107 T C rs77606603 OR4C5 Nonsynonymous SNV N304S 0.5 0.5 0.415 195 587 192 0.5 122 0 0 0 0 21.5 5291 chr1 169512120 169512120 G A rs6016 F5 Synonymous SNV I736I 0.315 0.299 0.245 123 370 115 0.315 72 60 16 6 20 Benign/Likely benign 9.946 5292 chr1 175299301 175299301 T C rs2027867 TNR Synonymous SNV Q901Q 0.692 0.69 0.67 273 812 265 0.7 197 277 88 67 98 0.005 5293 chr11 18723210 18723210 C T rs144559255 TMEM86A Nonsynonymous SNV A126V 0.018 0.029 0.02 9 21 11 0.023 6 0 1 0 0 5.897 5294 chr11 48387115 48387115 G A rs75003399 OR4C5 Synonymous SNV T301T 0.5 0.5 0.412 195 587 192 0.5 121 0 0 0 0 2.664 5295 chr1 175324651 175324651 A G rs2228359 TNR Synonymous SNV D746D 0.633 0.602 0.609 255 743 231 0.654 179 238 65 52 86 0.283 5296 chr11 48387118 48387118 G A rs79339252 OR4C5 Synonymous SNV Y300Y 0.5 0.5 0.408 195 587 192 0.5 120 0 0 0 0 0.013 5297 chr11 15206020 15206020 C T rs1714363 INSC Synonymous SNV C212C 0.065 0.073 0 22 76 28 0.056 0 23 8 0 5 1.894 5298 chr1 175335234 175335234 C T rs1385541 TNR Synonymous SNV S365S 0.265 0.266 0.214 101 311 102 0.259 63 35 13 5 14 14.83 5299 chr11 48387154 48387154 A G rs72473370 OR4C5 Synonymous SNV Y288Y 0.498 0.5 0.347 195 585 192 0.5 102 0 0 0 0 0.001 5300 chr11 48387155 48387155 T C rs10839483 OR4C5 Nonsynonymous SNV Y288C 0.349 0.331 0.16 130 410 127 0.333 47 0 0 0 0 0.002 5301 chr1 176863836 176863836 G C rs2281180 ASTN1 Nonsynonymous SNV H934Q 0.899 0.917 0.918 342 1056 352 0.877 270 474 163 125 149 16.26 5302 chr1 169580885 169580885 C T rs6131 SELP Nonsynonymous SNV S331N 0.229 0.206 0.211 71 269 79 0.182 62 35 9 8 6 0.03 5303 chr11 48387164 48387164 G A rs72473371 OR4C5 Nonsynonymous SNV S285F 0.498 0.5 0.33 195 585 192 0.5 97 0 0 0 0 22.8 5304 chr11 1651226 1651226 - GGAG rs762422220 KRTAP5-5 Frameshift insertion A53Gfs*129 0.142 0.102 0.082 49 167 39 0.126 24 25 5 4 8 5305 chr1 176863867 176863867 T C rs2228956 ASTN1 Nonsynonymous SNV H924R 0.899 0.917 0.915 342 1055 352 0.877 269 473 163 124 149 11.41 5306 chr11 124766203 124766203 C T rs12226461 ROBO4 Synonymous SNV G45G 0.046 0.042 0.041 19 54 16 0.049 12 0 0 0 0 8.288 5307 chr11 1651352 1651352 C T rs75391124 KRTAP5-5 Synonymous SNV G94G 0.168 0.128 0.136 49 197 49 0.126 40 13 3 2 2 3.952 5308 chr11 48387186 48387186 A G rs1994140 OR4C5 Nonsynonymous SNV F278L 0.414 0.411 0.401 163 486 158 0.418 118 0 0 0 0 9.394 5309 chr11 17615203 17615203 G A rs11024333 OTOG Nonsynonymous SNV R1075Q 0.165 0.19 0.18 81 194 73 0.208 53 21 3 3 10 Benign 10.55 5310 chr1 169677709 169677709 A G rs1051091 SELL Synonymous SNV L107L 0.333 0.331 0.347 130 391 127 0.333 102 62 21 19 21 6.224 5311 chr1 176992553 176992553 A G rs172917 ASTN1 Synonymous SNV C475C 0.59 0.57 0.551 214 693 219 0.549 162 200 65 49 55 0.24 5312 chr11 48387210 48387210 C T rs78428763 OR4C5 Nonsynonymous SNV V270M 0.491 0.482 0.282 190 576 185 0.487 83 0 0 0 0 0.013 5313 chr1 169698789 169698789 A G rs5363 SELE Synonymous SNV N247N 0.134 0.12 0.102 50 157 46 0.128 30 6 4 1 1 0.007 5314 chr1 176992676 176992676 C T rs10798496 ASTN1 Synonymous SNV Q434Q 0.428 0.411 0.401 154 502 158 0.395 118 107 32 27 24 9.434 5315 chr1 169701060 169701060 T G rs5361 SELE Nonsynonymous SNV S149R 0.135 0.12 0.102 50 159 46 0.128 30 6 4 1 1 25.2 5316 chr1 177915474 177915474 A C rs842192 SEC16B Nonsynonymous SNV I620S 0.843 0.846 0.864 332 990 325 0.851 254 422 139 109 143 0.619 5317 chr11 48387211 48387211 C G rs79985800 OR4C5 Nonsynonymous SNV L269F 0.491 0.484 0.282 189 576 186 0.485 83 0 0 0 0 0.001 5318 chr11 124767686 124767686 G T rs55941905 ROBO4 Synonymous SNV G2G 0.049 0.039 0.051 20 57 15 0.051 15 1 0 0 0 10.04 5319 chr11 48387237 48387237 C T rs72898877 OR4C5 Nonsynonymous SNV V261I 0.468 0.464 0.327 184 550 178 0.472 96 0 0 0 0 0.055 5320 chr1 169701771 169701771 C A rs138813218 SELE Nonsynonymous SNV A136S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 26.7 5321 chr1 177923440 177923440 T G rs12129817 CRYZL2P-SEC16B, SEC16B Synonymous SNV P138P 0.276 0.281 0.224 101 324 108 0.259 66 47 19 9 13 13.07 5322 chr11 18743180 18743180 C G rs10832975 IGSF22 Nonsynonymous SNV A94P 0.422 0.445 0.432 149 496 171 0.382 127 103 34 29 27 16.32 5323 chr1 177929987 177929987 T C rs12040910 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV H293R 0.742 0.714 0.738 271 871 274 0.695 217 324 105 79 99 10.43 5324 chr11 16848031 16848031 G A rs555123327 PLEKHA7 Nonsynonymous SNV R327C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 5325 chr11 17591922 17591922 C T rs7112749 OTOG Nonsynonymous SNV T659M 0.014 0.016 0.014 8 16 6 0.021 4 0 0 0 0 Benign 25.4 5326 chr11 48387254 48387254 A G rs75441735 OR4C5 Nonsynonymous SNV F255S 0.473 0.477 0.371 187 555 183 0.479 109 0 0 0 0 9.395 5327 chr1 169701901 169701901 T C rs1800016 SELE Synonymous SNV E92E 0.135 0.12 0.095 50 159 46 0.128 28 6 4 1 1 0.012 5328 chr11 124791314 124791314 T C rs116102273 HEPACAM Nonsynonymous SNV N324S 0.033 0.008 0 14 39 3 0.036 0 1 0 0 0 Benign 0.004 5329 chr11 14490249 14490249 G C COPB1 Nonsynonymous SNV P708R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.76 5330 chr11 1874404 1874404 C T rs2089910 LSP1 Synonymous SNV A10A 0.274 0.326 0.269 125 322 125 0.321 79 39 17 14 22 12.25 5331 chr1 169701904 169701904 T C rs1800015 SELE Synonymous SNV T91T 0.135 0.12 0.095 50 159 46 0.128 28 6 4 1 1 0.027 5332 chr11 126081403 126081403 T C rs2282580 RPUSD4 Nonsynonymous SNV Q44R 0.298 0.315 0.276 128 350 121 0.328 81 56 25 12 22 20.9 5333 chr11 48387258 48387258 C T rs78030134 OR4C5 Nonsynonymous SNV A254T 0.474 0.479 0.384 187 556 184 0.479 113 0 0 0 0 11.21 5334 chr1 179051300 179051300 T C rs2296377 TOR3A Nonsynonymous SNV F13L 0.649 0.628 0.639 257 762 241 0.659 188 279 87 69 96 0.002 5335 chr11 48387262 48387262 G A rs75430864 OR4C5 Synonymous SNV T252T 0.474 0.479 0.412 187 557 184 0.479 121 0 0 0 0 1.713 5336 chr1 179310439 179310439 C T rs7547733 SOAT1 Synonymous SNV F200F 0.262 0.258 0.235 104 308 99 0.267 69 29 12 9 16 15.14 5337 chr11 126143248 126143248 C T rs147235743 FOXRED1 Synonymous SNV V145V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.98 5338 chr11 48387278 48387278 - ACTGTCCTTCTGT rs139139147 OR4C5 Frameshift insertion R247Hfs*39 0.42 0.419 0.391 169 493 161 0.433 115 0 0 0 0 5339 chr1 179347832 179347832 T C rs10798674 AXDND1 Synonymous SNV V145V 0.499 0.477 0.544 197 586 183 0.505 160 161 44 44 50 0.207 5340 chr11 126162468 126162468 G A rs3802813 TIRAP Nonsynonymous SNV S55N 0.063 0.057 0.034 33 74 22 0.085 10 5 2 0 3 0.633 5341 chr11 48387285 48387285 - GTCTTTAGTAG rs369896820 OR4C5 Frameshift insertion S245Lfs*19 0.346 0.354 0.272 133 406 136 0.341 80 0 0 0 0 5342 chr1 179504026 179504028 AAG - rs141228272 AXDND1 E991del 0.413 0.414 0.412 170 485 159 0.436 121 115 32 29 39 5343 chr11 48387301 48387301 G A rs76220342 OR4C5 Synonymous SNV Y239Y 0.493 0.495 0.486 194 579 190 0.497 143 0 0 0 0 0.119 5344 chr11 18422487 18422487 C A rs6498 LDHA Synonymous SNV I145I 0.222 0.214 0.027 106 261 82 0.272 8 31 7 3 18 Benign 21 5345 chr1 179504043 179504043 C G rs6658180 AXDND1 Nonsynonymous SNV Q993E 0.429 0.43 0.439 173 504 165 0.444 129 117 34 30 41 0.001 5346 chr11 48387335 48387335 C A rs73460769 OR4C5 Nonsynonymous SNV C228F 0.441 0.453 0.483 168 518 174 0.431 142 0 0 0 0 25.6 5347 chr11 126174038 126174038 C T rs3740915 DCPS Synonymous SNV H21H 0.062 0.057 0.034 33 73 22 0.085 10 5 2 0 3 12.25 5348 chr11 18955744 18955744 C T rs11599929 MRGPRX1 Synonymous SNV L196L 0.265 0.242 0.224 113 311 93 0.29 66 11 2 2 2 6.189 5349 chr1 169799880 169799880 G T rs2272920 C1orf112 Nonsynonymous SNV A158S 0.117 0.099 0.105 38 137 38 0.097 31 5 3 1 1 31 5350 chr11 17615249 17615249 C A rs875696 OTOG Synonymous SNV T1090T 0.013 0.016 0.014 8 15 6 0.021 4 0 0 0 0 Benign 20.3 5351 chr11 19077755 19077755 A C rs11024969 MRGPRX2 Synonymous SNV S65S 0.038 0.034 0.041 21 45 13 0.054 12 1 0 0 0 0.002 5352 chr11 128807619 128807619 G T rs140191758 TP53AIP1 Stop gain S32X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.1 5353 chr1 179520506 179520506 G A rs1410592 NPHS2 Synonymous SNV A250A 0.647 0.656 0.639 240 760 252 0.615 188 237 80 62 75 Benign 10.47 5354 chr11 48387370 48387370 A G rs73460772 OR4C5 Synonymous SNV F216F 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.013 5355 chr11 48387424 48387424 G T rs61917478 OR4C5 Nonsynonymous SNV F198L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 24.5 5356 chr11 19077765 19077765 T C rs10833049 MRGPRX2 Nonsynonymous SNV N62S 0.23 0.198 0.238 99 270 76 0.254 70 27 7 3 8 18.83 5357 chr1 179544898 179544898 T C rs1079292 NPHS2 Synonymous SNV G34G 0.968 0.984 0.956 387 1137 378 0.992 281 552 186 137 192 Benign 0.013 5358 chr1 179562740 179562740 G C rs61310274 TDRD5 Nonsynonymous SNV R126S 0.404 0.409 0.456 181 474 157 0.464 134 90 31 35 39 23.8 5359 chr11 48387490 48387490 G A rs77144540 OR4C5 Synonymous SNV H176H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.024 5360 chr1 169823790 169823790 C G rs12143301 SCYL3 Nonsynonymous SNV G543A 0.118 0.099 0.109 38 138 38 0.097 32 5 3 1 1 13.95 5361 chr11 18555901 18555901 C G rs56151250 UEVLD Synonymous SNV V278V 0.163 0.177 0.143 81 191 68 0.208 42 14 8 5 8 12.1 5362 chr11 19077904 19077904 T G rs11024970 MRGPRX2 Nonsynonymous SNV N16H 0.038 0.034 0.041 21 45 13 0.054 12 1 0 0 0 1.157 5363 chr11 48387506 48387506 A G rs72898882 OR4C5 Nonsynonymous SNV V171A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.004 5364 chr11 18555949 18555949 T C rs55999230 UEVLD Synonymous SNV L262L 0.164 0.177 0.143 80 192 68 0.205 42 14 8 5 8 8.223 5365 chr1 169824068 169824068 A G rs12132384 SCYL3 Synonymous SNV N450N 0.117 0.099 0.105 38 137 38 0.097 31 5 3 1 1 5.947 5366 chr1 179604864 179604864 C T rs4628468 TDRD5 Synonymous SNV D9D 0.765 0.755 0.813 310 898 290 0.795 239 342 109 100 122 15.03 5367 chr11 48387526 48387526 G T rs78378263 OR4C5 Synonymous SNV L164L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.063 5368 chr1 169828327 169828327 G A rs17602701 SCYL3 Synonymous SNV S389S 0.118 0.099 0.109 38 138 38 0.097 32 5 3 1 1 11.93 5369 chr11 48387535 48387535 T C rs72898883 OR4C5 Synonymous SNV V161V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.062 5370 chr1 179631242 179631242 G A rs35448215 TDRD5 Nonsynonymous SNV E277K 0.203 0.224 0.16 75 238 86 0.192 47 23 9 5 7 23.3 5371 chr11 15243190 15243190 C T rs61742947 INSC Synonymous SNV L287L 0.065 0.052 0.031 14 76 20 0.036 9 4 1 0 0 15.35 5372 chr1 170135669 170135669 C T rs6427234 METTL11B Synonymous SNV C119C 0.244 0.185 0.19 87 286 71 0.223 56 36 8 4 7 13.27 5373 chr11 48387540 48387540 G T rs72898885 OR4C5 Nonsynonymous SNV Q160K 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 2.406 5374 chr11 19184916 19184916 A G rs12798330 ZDHHC13 Nonsynonymous SNV Y262C 0.009 0.026 0.024 2 10 10 0.005 7 0 0 0 0 27.6 5375 chr1 170135760 170135760 T C rs6427235 METTL11B Nonsynonymous SNV S150P 0.244 0.188 0.19 87 286 72 0.223 56 36 8 4 7 13.41 5376 chr1 179852074 179852074 T C rs1281378 TOR1AIP1 Nonsynonymous SNV M146T 0.633 0.654 0.707 239 743 251 0.613 208 233 78 75 72 Benign 0.001 5377 chr11 48387580 48387580 G T rs78299098 OR4C5 Synonymous SNV A146A 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.219 5378 chr11 17655748 17655748 G A rs61743165 OTOG Nonsynonymous SNV R2479H 0.014 0.016 0.01 8 16 6 0.021 3 0 0 0 0 Benign 14.23 5379 chr11 16340056 16340056 A C rs146398908 SOX6 Synonymous SNV L127L 0.005 0.005 0 2 6 2 0.005 0 1 0 0 0 0.365 5380 chr11 48387582 48387582 C T rs75027745 OR4C5 Nonsynonymous SNV A146T 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 23.6 5381 chr11 19251826 19251826 G A rs11821023 E2F8 Synonymous SNV L440L 0.087 0.07 0.031 38 102 27 0.097 9 2 0 0 0 10.79 5382 chr1 170135765 170135765 T C rs6669514 METTL11B Synonymous SNV F151F 0.193 0.13 0.163 72 227 50 0.185 48 21 4 4 3 4.189 5383 chr1 179858444 179858444 G A rs2245425 TOR1AIP1 0.655 0.68 0.704 250 769 261 0.641 207 254 87 76 77 Conflicting interpretations of pathogenicity 7.624 5384 chr11 193112 193112 C T rs7951297 SCGB1C1, SCGB1C2 Nonsynonymous SNV R5C 0.397 0.414 0.303 163 466 159 0.418 89 0 0 0 0 Benign 8.638 5385 chr11 48387584 48387584 A T rs75821991 OR4C5 Nonsynonymous SNV V145E 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 25.2 5386 chr11 1651228 1651228 - TGTGGGGGCTGTGGCTCCGGCTGTGG rs756646522 KRTAP5-5 Frameshift insertion G54Vfs*206 0.089 0.057 0.054 23 105 22 0.059 16 24 4 4 5 5387 chr1 179876988 179876988 C G rs609521 TOR1AIP1 Nonsynonymous SNV P277R 0.629 0.646 0.619 236 739 248 0.605 182 232 78 71 70 Benign 10.87 5388 chr1 170521376 170521376 G A rs913257 GORAB Nonsynonymous SNV E295K 0.463 0.448 0.446 183 543 172 0.469 131 122 37 32 46 Benign 25.9 5389 chr11 48387591 48387591 A G rs75297075 OR4C5 Nonsynonymous SNV C143R 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.012 5390 chr11 18600322 18600322 T G rs10500835 UEVLD Synonymous SNV R26R 0.155 0.161 0.116 77 182 62 0.197 34 13 7 4 7 7.675 5391 chr11 125484044 125484044 A G rs12276729 STT3A Synonymous SNV T447T 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign 0.663 5392 chr1 179887125 179887125 G A rs627897 TOR1AIP1 Synonymous SNV A502A 0.94 0.945 0.952 363 1104 363 0.931 280 519 171 133 169 Benign 14.28 5393 chr11 48387604 48387604 C T rs72898886 OR4C5 Synonymous SNV V138V 0.499 0.5 0.5 193 586 192 0.495 147 0 0 0 0 1.554 5394 chr1 179972337 179972337 A C rs17371159 CEP350 Synonymous SNV R349R 0.16 0.161 0.15 69 188 62 0.177 44 16 1 6 8 3.033 5395 chr11 18729367 18729367 G T rs57253324 IGSF22 Synonymous SNV I1088I 0.138 0.125 0.119 57 162 48 0.146 35 9 5 3 4 7.699 5396 chr11 48387630 48387630 C T rs73460777 OR4C5 Nonsynonymous SNV G130R 0.499 0.497 0.5 195 586 191 0.5 147 0 0 0 0 23.3 5397 chr11 1959707 1959707 C T rs4727 TNNT3 Synonymous SNV G186G 0.228 0.268 0.194 79 268 103 0.203 57 32 15 5 8 Benign/Likely benign 19.03 5398 chr1 179989742 179989742 G C rs2477120 CEP350 Nonsynonymous SNV E945Q 0.595 0.599 0.656 227 699 230 0.582 193 212 60 66 66 22.4 5399 chr11 129991653 129991658 GAAGAG - rs3837393 APLP2 E226_E227del 0.118 0.115 0.156 45 138 44 0.115 46 7 2 1 2 5400 chr1 171083174 171083174 C T rs909530 FMO3 Synonymous SNV N222N 0.15 0.143 0.177 67 176 55 0.172 52 10 7 4 5 Benign 11.9 5401 chr11 48387647 48387647 A G rs75615667 OR4C5 Nonsynonymous SNV V124A 0.499 0.497 0.497 195 586 191 0.5 146 0 0 0 0 0.001 5402 chr11 17793385 17793385 C T rs2229007 KCNC1 Synonymous SNV I248I 0.014 0.016 0.01 12 16 6 0.031 3 0 0 0 0 Benign 11.15 5403 chr1 171083242 171083242 A G rs2266780 FMO3 Nonsynonymous SNV E245G 0.075 0.078 0.092 46 88 30 0.118 27 0 1 0 5 Benign/Likely benign 23.9 5404 chr1 180000542 180000542 G T rs12125245 CEP350 Nonsynonymous SNV G1213V 0.156 0.156 0.15 69 183 60 0.177 44 16 1 6 8 17.08 5405 chr11 48387679 48387679 A G rs76209049 OR4C5 Synonymous SNV I113I 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 0.184 5406 chr11 19970507 19970507 C T rs12284679 NAV2 Synonymous SNV D778D 0.087 0.089 0.082 36 102 34 0.092 24 4 2 0 3 13.85 5407 chr11 48387684 48387684 T - rs67755516 OR4C5 T112Lfs*8 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 5408 chr1 171227216 171227216 T C rs10912675 FMO1 Star tloss M1? 0.296 0.271 0.228 113 347 104 0.29 67 50 11 7 17 1.97 5409 chr1 180080290 180080290 T A rs12126496 CEP350 Synonymous SNV L3116L 0.124 0.115 0.129 58 146 44 0.149 38 10 0 4 5 8.74 5410 chr11 48387689 48387689 T C rs75371569 OR4C5 Nonsynonymous SNV K110R 0.5 0.5 0.493 195 587 192 0.5 145 0 0 0 0 0.528 5411 chr11 130068491 130068491 G C rs11827924 ST14 Synonymous SNV G553G 0.09 0.089 0.105 29 106 34 0.074 31 3 2 1 0 6.078 5412 chr11 17352478 17352480 ACA - rs3842269 NUCB2 Q373del 0.19 0.182 0.18 82 223 70 0.21 53 31 8 9 14 5413 chr1 180145088 180145088 A G rs2298206 QSOX1 Synonymous SNV T145T 0.943 0.951 0.966 359 1107 365 0.921 284 521 175 137 166 2.069 5414 chr11 2005794 2005794 C A rs71455916 MRPL23-AS1 0.213 0.227 0.235 93 250 87 0.238 69 32 9 11 11 5.482 5415 chr11 48387705 48387705 C T rs34926479 OR4C5 Nonsynonymous SNV D105N 0.44 0.44 0.398 168 516 169 0.431 117 0 0 0 0 24.7 5416 chr1 180165699 180165699 A C rs3738115 QSOX1 Nonsynonymous SNV N591H 0.017 0.016 0.014 10 20 6 0.026 4 0 0 0 0 0.006 5417 chr11 48387737 48387737 G C rs73460780 OR4C5 Nonsynonymous SNV S94C 0.496 0.497 0.493 194 582 191 0.497 145 0 0 0 0 0.034 5418 chr1 180240752 180240752 C T rs3845397 LHX4-AS1 0.523 0.573 0.561 228 614 220 0.585 165 207 79 48 73 6.444 5419 chr11 48387757 48387757 A C rs74557904 OR4C5 Nonsynonymous SNV F87L 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.008 5420 chr1 180243524 180243524 A G rs7536561 LHX4 Nonsynonymous SNV N328S 0.62 0.651 0.588 253 728 250 0.649 173 232 82 50 82 Benign 0.458 5421 chr11 130058047 130058047 A G rs62642510 ST14 Synonymous SNV P40P 0.047 0.029 0.041 9 55 11 0.023 12 2 0 1 0 0.081 5422 chr11 13031288 13031288 C T rs61879069 RASSF10 Synonymous SNV A55A 0.049 0.06 0.01 27 57 23 0.069 3 1 0 0 0 2.636 5423 chr11 13031846 13031846 G A rs12793946 RASSF10 Synonymous SNV Q241Q 0.142 0.143 0.133 63 167 55 0.162 39 17 3 4 5 6.388 5424 chr11 48387780 48387780 C T rs76329018 OR4C5 Nonsynonymous SNV V80M 0.499 0.5 0.49 195 586 192 0.5 144 0 0 0 0 2.687 5425 chr11 20089944 20089944 T C rs1442710 NAV2 Synonymous SNV N725N 0.159 0.159 0.19 56 187 61 0.144 56 15 10 5 5 11.77 5426 chr1 180885430 180885430 T C rs10732273 KIAA1614 Nonsynonymous SNV L64P 1 0.995 0.997 389 1174 382 0.997 293 587 190 146 194 0.008 5427 chr11 48387789 48387789 C G rs80222485 OR4C5 Nonsynonymous SNV D77H 0.499 0.5 0.493 195 586 192 0.5 145 0 0 0 0 13.32 5428 chr1 180897569 180897569 C T rs3747958 KIAA1614 Synonymous SNV T355T 0.388 0.427 0.412 150 456 164 0.385 121 94 39 28 29 18.42 5429 chr11 48387825 48387825 T G rs75650204 OR4C5 Nonsynonymous SNV I65L 0.499 0.5 0.493 195 586 192 0.5 145 0 0 0 0 0.002 5430 chr1 171621525 171621525 C T rs2234926 MYOC Nonsynonymous SNV R76K 0.141 0.128 0.17 55 165 49 0.141 50 14 4 4 2 Conflicting interpretations of pathogenicity 8.995 5431 chr1 180905694 180905694 C T rs3795503 KIAA1614 Synonymous SNV N883N 0.242 0.273 0.231 90 284 105 0.231 68 33 18 5 6 6.388 5432 chr11 193146 193146 G A rs61736219 SCGB1C1, SCGB1C2 Nonsynonymous SNV C16Y 0.169 0.177 0.116 57 198 68 0.146 34 0 0 0 0 22.8 5433 chr11 48387833 48387833 T C rs79515387 OR4C5 Nonsynonymous SNV D62G 0.499 0.5 0.493 195 586 192 0.5 145 0 0 0 0 0.005 5434 chr1 180913597 180913597 A G rs2331995 KIAA1614 Nonsynonymous SNV N1078D 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 10.77 5435 chr1 171753269 171753269 G A rs139771818 EEF1AKNMT Synonymous SNV V95V 0.004 0.013 0.01 4 5 5 0.01 3 0 0 0 0 8.581 5436 chr11 48387850 48387850 G T rs73460781 OR4C5 Stop gain Y56X 0.499 0.5 0.49 195 586 192 0.5 144 0 0 0 0 33 5437 chr11 193797 193797 G C rs199816295 SCGB1C1, SCGB1C2 Nonsynonymous SNV E47D 0.005 0.003 0.014 8 6 1 0.021 4 0 0 0 0 10.86 5438 chr11 20117232 20117232 T C rs2289566 NAV2 Synonymous SNV H1041H 0.244 0.193 0.248 93 286 74 0.238 73 41 7 11 13 3.22 5439 chr11 13031253 13031253 C A rs61879068 RASSF10 Synonymous SNV R44R 0.037 0.029 0.024 16 44 11 0.041 7 0 0 0 0 16.33 5440 chr1 180953853 180953853 A G rs3747957 STX6 Synonymous SNV N116N 0.547 0.542 0.503 179 642 208 0.459 148 164 52 35 41 6.015 5441 chr11 48387890 48387890 T C rs74623688 OR4C5 Nonsynonymous SNV E43G 0.499 0.5 0.469 195 586 192 0.5 138 0 0 0 0 2.227 5442 chr1 172422209 172422209 C T rs2285175 C1orf105 Synonymous SNV V16V 0.313 0.292 0.293 107 367 112 0.274 86 66 19 17 14 6.245 5443 chr11 13031705 13031705 G C rs4323847 RASSF10 Nonsynonymous SNV Q194H 0.037 0.029 0.024 16 44 11 0.041 7 0 0 0 0 8.527 5444 chr1 181759657 181759657 G A rs704326 CACNA1E Nonsynonymous SNV A1936T 0.478 0.461 0.425 177 561 177 0.454 125 134 44 30 44 1.328 5445 chr11 2016908 2016908 G A rs217727 H19 0.197 0.198 0.214 78 231 76 0.2 63 26 7 8 4 6.872 5446 chr11 48387894 48387894 C T rs75065468 OR4C5 Nonsynonymous SNV A42T 0.499 0.5 0.469 195 586 192 0.5 138 0 0 0 0 14 5447 chr1 182356399 182356399 A G rs1058111 GLUL Synonymous SNV S65S 0.618 0.62 0.65 216 725 238 0.554 191 226 72 62 60 Benign 10.65 5448 chr11 48387900 48387900 G A rs74338058 OR4C5 Stop gain Q40X 0.499 0.5 0.469 195 586 192 0.5 138 0 0 0 0 28.6 5449 chr1 182369078 182369078 G A rs6698722 TEDDM1 Synonymous SNV P181P 0.881 0.883 0.881 341 1034 339 0.874 259 455 147 114 149 10.41 5450 chr11 125781366 125781366 T C rs140079776 DDX25 Synonymous SNV H147H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 2.556 5451 chr11 48387918 48387918 T - rs66829866 OR4C5 I34Sfs*5 0.499 0.5 0.449 195 586 192 0.5 132 0 0 0 0 5452 chr1 182369233 182369233 A G rs6674281 TEDDM1 Nonsynonymous SNV Y130H 0.618 0.617 0.646 221 726 237 0.567 190 226 71 61 63 0.018 5453 chr11 48387919 48387919 G A rs114441034 OR4C5 Synonymous SNV F33F 0.499 0.5 0.449 195 586 192 0.5 132 0 0 0 0 0.649 5454 chr11 1977552 1977552 G A rs12812 MRPL23 Nonsynonymous SNV A122T 0.21 0.232 0.167 73 246 89 0.187 49 25 10 3 7 0.004 5455 chr11 48387930 48387930 T C rs75939575 OR4C5 Nonsynonymous SNV I30V 0.499 0.5 0.442 195 586 192 0.5 130 0 0 0 0 0.001 5456 chr1 182443462 182443462 T C rs649437 RGSL1 Synonymous SNV L406L 0.329 0.318 0.33 130 386 122 0.333 97 67 16 13 20 4.569 5457 chr11 48387945 48387945 - CA rs139770813 OR4C5 Frameshift insertion E25Wfs*4 0.499 0.5 0.408 195 586 192 0.5 120 0 0 0 0 5458 chr11 48387946 48387946 G T rs114053360 OR4C5 Nonsynonymous SNV F24L 0.499 0.5 0.412 195 586 192 0.5 121 0 0 0 0 0.002 5459 chr1 182551337 182551337 A C rs627928 RNASEL Nonsynonymous SNV D541E 0.56 0.602 0.575 234 658 231 0.6 169 184 63 46 68 0.001 5460 chr11 134023242 134023242 G T NCAPD3 Synonymous SNV V1285V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.3 5461 chr11 20623007 20623007 C T rs7109418 SLC6A5 Synonymous SNV S112S 0.258 0.276 0.221 106 303 106 0.272 65 42 16 4 12 Benign 10.46 5462 chr11 20623023 20623023 C T rs2241941 SLC6A5 Synonymous SNV L118L 0.302 0.336 0.252 119 355 129 0.305 74 55 24 6 16 Benign 7.828 5463 chr11 4929061 4929061 C G rs10500627 OR51A7 Synonymous SNV L154L 0.082 0.065 0.075 28 96 25 0.072 22 2 0 1 1 1.501 5464 chr1 182554763 182554763 C T rs147141911 RNASEL Synonymous SNV T393T 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.86 5465 chr11 19970501 19970501 T C rs11025335 NAV2 Synonymous SNV H776H 0.175 0.185 0.136 72 205 71 0.185 40 19 5 2 9 0.082 5466 chr11 4945196 4945196 T G rs1378739 OR51G1 Nonsynonymous SNV Y125S 0.527 0.51 0.52 220 619 196 0.564 153 165 45 40 61 23.8 5467 chr1 182569626 182569626 T C rs1144566 RGS16 Nonsynonymous SNV H137R 0.994 0.997 0.98 389 1167 383 0.997 288 580 191 141 194 0.299 5468 chr1 174516999 174516999 C T rs41266050 RABGAP1L Nonsynonymous SNV P542S 0.238 0.237 0.156 107 279 91 0.274 46 38 14 2 19 2.853 5469 chr11 18636481 18636481 C T rs16935599 SPTY2D1 Nonsynonymous SNV R447Q 0.049 0.036 0.048 13 57 14 0.033 14 1 0 2 0 22.9 5470 chr11 4945229 4945229 G A rs10836954 OR51G1 Nonsynonymous SNV S114L 0.046 0.039 0.061 14 54 15 0.036 18 1 0 0 0 23.6 5471 chr1 182850727 182850727 T C rs6677840 DHX9 Synonymous SNV T953T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.754 5472 chr11 18332977 18332977 C T rs147053126 HPS5 Nonsynonymous SNV A81T 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 5473 chr11 494942 494942 G C rs7983 RNH1 Synonymous SNV A413A 0.297 0.359 0.367 114 349 138 0.292 108 53 23 17 18 8.527 5474 chr1 182852327 182852327 G C DHX9 Nonsynonymous SNV V990L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.69 5475 chr11 18636960 18636960 C T rs12795249 SPTY2D1 Synonymous SNV R287R 0.03 0.021 0.014 5 35 8 0.013 4 0 0 0 0 9.806 5476 chr11 13461457 13461457 C A rs72857043 BTBD10 Synonymous SNV V33V 0.134 0.115 0.082 45 157 44 0.115 24 17 6 0 4 14.93 5477 chr11 499059 499059 C T rs17584 RNH1 Synonymous SNV L190L 0.207 0.258 0.255 69 243 99 0.177 75 27 9 8 5 11.41 5478 chr1 182922215 182922215 G T rs78487548 SHCBP1L Nonsynonymous SNV S18R 0.062 0.091 0.102 27 73 35 0.069 30 2 1 0 1 6.083 5479 chr11 18728650 18728650 T C rs2289965 IGSF22 Nonsynonymous SNV I1131V 0.279 0.286 0.293 114 328 110 0.292 86 45 13 14 13 10.72 5480 chr11 5010905 5010905 A G rs2499953 MMP26 Nonsynonymous SNV K43E 0.061 0.047 0.034 18 72 18 0.046 10 1 1 0 1 11.34 5481 chr1 182993025 182993025 C T rs10911194 LAMC1 Synonymous SNV A58A 0.498 0.526 0.575 197 585 202 0.505 169 157 53 52 56 15.75 5482 chr11 5020416 5020416 A G rs2445290 OR51L1 Synonymous SNV L68L 0.9 0.904 0.864 344 1057 347 0.882 254 477 155 107 152 0.007 5483 chr11 5079946 5079946 C T rs2445332 OR52E2 Synonymous SNV V304V 0.965 0.958 0.929 369 1133 368 0.946 273 546 177 130 174 0.614 5484 chr1 183072590 183072590 T C rs2296288 LAMC1 Synonymous SNV C182C 0.564 0.602 0.602 227 662 231 0.582 177 200 71 61 71 3.878 5485 chr11 13743325 13743325 A G rs34341612 FAR1 Synonymous SNV E392E 0.011 0.013 0.01 4 13 5 0.01 3 0 0 0 0 8.884 5486 chr11 5080844 5080844 T C rs16909440 OR52E2 Nonsynonymous SNV N5S 0.338 0.331 0.316 155 397 127 0.397 93 67 24 13 29 22.1 5487 chr1 183084686 183084686 C A rs20562 LAMC1 Synonymous SNV G414G 0.009 0.003 0.014 3 10 1 0.008 4 1 0 0 0 17.32 5488 chr1 183085755 183085755 A G rs20563 LAMC1 Nonsynonymous SNV I458V 0.565 0.602 0.602 226 663 231 0.579 177 201 71 61 71 0.013 5489 chr11 5153261 5153261 A G rs2472530 OR52A5 Synonymous SNV F204F 0.147 0.143 0.16 60 173 55 0.154 47 14 5 6 7 0.002 5490 chr11 14900931 14900931 G A rs117913124 CYP2R1 Synonymous SNV D353D 0.021 0.018 0.034 9 25 7 0.023 10 0 0 0 0 5.247 5491 chr11 5172786 5172786 A G rs10768611 OR52A1 Nonsynonymous SNV S272P 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 6.882 5492 chr1 183086757 183086757 A C rs2296292 LAMC1 Synonymous SNV A592A 0.565 0.602 0.602 226 663 231 0.579 177 201 71 61 71 4.835 5493 chr11 22271870 22271870 A T rs7481951 ANO5 Nonsynonymous SNV L321F 0.59 0.594 0.582 234 693 228 0.6 171 202 68 49 64 Benign/Likely benign 13.12 5494 chr11 1780205 1780205 A G rs11555039 CTSD Synonymous SNV T155T 0.119 0.117 0.112 42 140 45 0.108 33 7 2 3 1 Benign 0.397 5495 chr1 183093875 183093875 T C rs20557 LAMC1 Synonymous SNV N837N 0.565 0.602 0.602 226 663 231 0.579 177 201 71 61 71 0.374 5496 chr11 5199208 5199208 T C rs7927539 OR52Z1 Nonsynonymous SNV I211M 0.675 0.646 0.684 257 792 248 0.659 201 269 83 71 83 0.467 5497 chr11 20129311 20129311 G A rs35891966 NAV2 Nonsynonymous SNV V1379I 0.045 0.039 0.041 11 53 15 0.028 12 1 0 0 1 33 5498 chr11 5199222 5199222 A C rs7924390 OR52Z1 Nonsynonymous SNV S207A 0.675 0.646 0.68 257 792 248 0.659 200 269 83 71 83 0.143 5499 chr1 183094547 183094547 T C rs20558 LAMC1 Nonsynonymous SNV L888P 0.566 0.602 0.602 226 664 231 0.579 177 202 71 61 71 7.621 5500 chr11 1780867 1780867 G A rs2230067 CTSD Synonymous SNV A77A 0.099 0.099 0.109 37 116 38 0.095 32 6 1 3 1 Benign 13.43 5501 chr11 5199340 5199340 - ATGCCC rs113029548 OR52Z1 H166_I167insMG 0.674 0.646 0.684 258 791 248 0.662 201 268 83 71 83 5502 chr11 125851030 125851030 T C rs143111106 CDON Nonsynonymous SNV S1064G 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 2.654 5503 chr11 2016619 2016619 A G rs3741219 HOTS Nonsynonymous SNV T65A 0.458 0.417 0.456 165 538 160 0.423 134 113 34 33 35 3.498 5504 chr11 5199645 5199645 T C rs6578560 OR52Z1 Nonsynonymous SNV K66E 0.985 0.979 0.983 377 1156 376 0.967 289 569 184 142 182 1.093 5505 chr11 1782594 1782594 G A rs17571 CTSD Nonsynonymous SNV A58V 0.099 0.102 0.109 37 116 39 0.095 32 6 1 3 1 Benign/Likely benign 1.468 5506 chr1 183105534 183105534 T C rs20560 LAMC1 Synonymous SNV R1376R 0.566 0.607 0.599 229 664 233 0.587 176 200 70 61 71 0.027 5507 chr11 5199660 5199660 T C rs6578561 OR52Z1 Nonsynonymous SNV T61A 0.986 0.979 0.983 377 1158 376 0.967 289 571 184 142 182 1.289 5508 chr11 2016659 2016659 T C rs2839704 HOTS Nonsynonymous SNV V78A 0.418 0.378 0.398 152 491 145 0.39 117 92 32 23 27 2.46 5509 chr11 5199675 5199675 C T rs6578562 OR52Z1 Nonsynonymous SNV D56N 0.667 0.641 0.68 257 783 246 0.659 200 264 81 70 82 7.636 5510 chr1 183105705 183105705 G A rs20561 LAMC1 Synonymous SNV A1433A 0.482 0.5 0.469 192 566 192 0.492 138 154 51 37 50 9.028 5511 chr1 175324711 175324711 G A rs61731115 TNR Synonymous SNV I726I 0.075 0.07 0.071 37 88 27 0.095 21 4 1 1 1 14.05 5512 chr11 2016662 2016662 T C rs2839703 HOTS Nonsynonymous SNV L79P 0.418 0.378 0.398 152 491 145 0.39 117 92 32 23 27 1.799 5513 chr11 18127530 18127530 - CCTCCT SAAL1 E19_V20insEE 0.004 0.005 0 2 5 2 0.005 0 1 0 0 0 5514 chr11 5199708 5199708 T A rs6578563 OR52Z1 Nonsynonymous SNV M45L 0.676 0.646 0.687 258 794 248 0.662 202 269 83 71 83 8.575 5515 chr1 183177132 183177132 G A rs146325169 LAMC2 Nonsynonymous SNV E66K 0 0 0 6 0 0 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 5516 chr11 125891162 125891162 A G rs35131477 CDON Synonymous SNV P110P 0.045 0.034 0.037 24 53 13 0.062 11 0 0 0 2 Benign/Likely benign 0.507 5517 chr11 5199818 5199818 C - rs5789371 OR52Z1 G8Afs*24 0.673 0.646 0.684 257 790 248 0.659 201 269 83 71 83 5518 chr1 175348723 175348723 C T rs859427 TNR Nonsynonymous SNV R310K 0.657 0.656 0.694 253 771 252 0.649 204 242 80 69 77 15.93 5519 chr11 2016924 2016924 A G rs10840159 H19 0.453 0.411 0.456 164 532 158 0.421 134 114 34 33 37 7.587 5520 chr11 5221645 5221645 C A rs11512276 OR51V1 Nonsynonymous SNV G96W 0.565 0.516 0.408 219 663 198 0.562 120 195 49 50 62 26.2 5521 chr11 20178717 20178717 G T rs831464 DBX1 Synonymous SNV R180R 0.097 0.091 0.095 31 114 35 0.079 28 8 5 0 2 12.13 5522 chr11 233067 233067 C T rs11246020 SIRT3 Nonsynonymous SNV V144I 0.27 0.294 0.272 118 317 113 0.303 80 47 11 6 14 0.006 5523 chr1 183184616 183184616 C T rs2274980 LAMC2 Synonymous SNV S99S 0.106 0.125 0.116 41 124 48 0.105 34 3 2 1 2 Benign 19.72 5524 chr1 175355391 175355391 A G rs859437 TNR Synonymous SNV T185T 0.765 0.763 0.816 299 898 293 0.767 240 341 111 96 112 0.252 5525 chr11 18955861 18955861 C T rs72890000 MRGPRX1 Synonymous SNV E157E 0.125 0.133 0.095 33 147 51 0.085 28 3 2 3 0 4.403 5526 chr11 5221825 5221825 G A rs11036212 OR51V1 Nonsynonymous SNV L36F 0.853 0.813 0.884 332 1002 312 0.851 260 434 127 113 142 1.074 5527 chr1 175375683 175375683 T C rs859399 TNR Synonymous SNV T56T 0.645 0.651 0.653 254 757 250 0.651 192 235 79 62 81 0.024 5528 chr1 183187603 183187603 C T rs1129723 LAMC2 Synonymous SNV V161V 0.106 0.125 0.116 41 124 48 0.105 34 3 2 1 2 Benign 15.38 5529 chr11 233212 233212 C A rs11555236 SIRT3 Synonymous SNV S95S 0.27 0.294 0.272 120 317 113 0.308 80 47 11 6 15 15.46 5530 chr1 175375802 175375802 T C rs859398 TNR Nonsynonymous SNV I17V 0.645 0.651 0.653 254 757 250 0.651 192 235 79 62 81 0.183 5531 chr1 183192304 183192304 T G rs1047980 LAMC2 Synonymous SNV G266G 0.106 0.128 0.126 42 125 49 0.108 37 3 2 2 2 Benign 10.82 5532 chr11 5248243 5248243 A G rs713040 HBB Synonymous SNV H3H 0.859 0.815 0.888 331 1009 313 0.849 261 436 126 114 142 Benign 0.002 5533 chr11 1651228 1651228 C G rs71454096 KRTAP5-5 Nonsynonymous SNV A53G 0.239 0.221 0.126 89 281 85 0.228 37 119 39 15 36 18.93 5534 chr1 183201970 183201970 G C rs2296303 LAMC2 Nonsynonymous SNV S733T 0.041 0.039 0.071 17 48 15 0.044 21 1 1 0 0 Benign/Likely benign 11.25 5535 chr11 5322520 5322520 G A rs12283334 OR51B4 Synonymous SNV L219L 0.227 0.227 0.252 97 267 87 0.249 74 25 8 10 16 0.168 5536 chr1 176809368 176809368 C T rs12118034 PAPPA2 Synonymous SNV D1754D 0.227 0.208 0.221 84 267 80 0.215 65 35 11 12 9 17.64 5537 chr11 5322737 5322737 A G rs10837771 OR51B4 Nonsynonymous SNV M147T 0.567 0.599 0.571 211 666 230 0.541 168 187 68 51 60 0.058 5538 chr11 20622937 20622937 C A rs61736602 SLC6A5 Nonsynonymous SNV A89E 0.035 0.036 0.034 12 41 14 0.031 10 2 1 0 0 Benign/Likely benign 16.71 5539 chr1 183206573 183206573 G A rs1047981 LAMC2 Synonymous SNV Q896Q 0.106 0.128 0.126 42 124 49 0.108 37 3 2 2 2 Benign 0.665 5540 chr11 18505552 18505552 G A rs2279901 TSG101 Synonymous SNV D236D 0.008 0.005 0.01 6 9 2 0.015 3 1 0 0 0 6.938 5541 chr1 183486859 183486859 G A rs789169 SMG7 Synonymous SNV L30L 0.816 0.828 0.786 328 958 318 0.841 231 396 130 91 136 9.884 5542 chr11 5323071 5323071 C T rs7118113 OR51B4 Nonsynonymous SNV V36I 0.789 0.823 0.82 303 926 316 0.777 241 363 128 100 117 3.964 5543 chr1 183596703 183596703 G A rs2231241 ARPC5 Synonymous SNV S143S 0.039 0.031 0.017 10 46 12 0.026 5 1 0 0 0 12.06 5544 chr11 534242 534242 A G rs12628 HRAS Synonymous SNV H27H 0.293 0.357 0.354 128 344 137 0.328 104 55 21 14 28 Benign 0.782 5545 chr1 183599638 183599638 C T rs2231240 ARPC5 Synonymous SNV P120P 0.039 0.036 0.017 10 46 14 0.026 5 1 0 0 0 20.1 5546 chr11 5344772 5344772 T C rs10742622 OR51B2 Synonymous SNV T252T 0.917 0.948 0.932 353 1077 364 0.905 274 494 173 127 159 0.004 5547 chr1 183616884 183616884 C T rs10911390 APOBEC4 Nonsynonymous SNV V345M 0.039 0.036 0.017 10 46 14 0.026 5 1 0 0 0 9.301 5548 chr11 18751041 18751041 C T rs1550870 PTPN5 Synonymous SNV V497V 0.395 0.365 0.33 147 464 140 0.377 97 91 22 19 24 14.94 5549 chr11 5344847 5344847 A G rs10768793 OR51B2 Synonymous SNV A227A 0.917 0.948 0.932 354 1077 364 0.908 274 494 173 127 160 1.206 5550 chr1 177001896 177001896 C G rs2076069 ASTN1 Synonymous SNV P187P 0.157 0.141 0.126 58 184 54 0.149 37 12 6 2 3 10.82 5551 chr11 5344902 5344902 C G rs7937237 OR51B2 Nonsynonymous SNV C209S 0.917 0.948 0.932 354 1077 364 0.908 274 494 173 127 160 0.001 5552 chr1 183616926 183616926 T C rs1174657 APOBEC4 Nonsynonymous SNV K331E 0.382 0.404 0.463 146 448 155 0.374 136 87 28 28 23 0.002 5553 chr11 1858262 1858262 C T rs484955 SYT8 Nonsynonymous SNV T304M 0.135 0.128 0.102 49 158 49 0.126 30 9 3 2 3 25 5554 chr1 177247854 177247854 C G rs3176443 BRINP2 Nonsynonymous SNV L390V 0.255 0.284 0.255 91 299 109 0.233 75 27 18 7 13 3.31 5555 chr11 1260244 1260244 T C rs76590120 MUC5B Synonymous SNV T1147T 0.035 0.042 0 14 41 16 0.036 0 0 0 0 0 0.071 5556 chr11 5345128 5345128 G A rs10837814 OR51B2 Nonsynonymous SNV L134F 0.618 0.638 0.585 229 725 245 0.587 172 232 76 50 63 19 5557 chr1 183617094 183617094 G A rs10911391 APOBEC4 Nonsynonymous SNV P275S 0.039 0.036 0.017 10 46 14 0.026 5 1 0 0 0 0.002 5558 chr1 177908852 177908852 C T rs943762 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV G389R 0.104 0.109 0.085 44 122 42 0.113 25 7 5 2 1 7.728 5559 chr11 1972143 1972143 G A rs34134444 MRPL23 Nonsynonymous SNV R11Q 0.065 0.057 0.054 25 76 22 0.064 16 2 1 0 1 14.63 5560 chr11 5345170 5345170 A G rs7952293 OR51B2 Nonsynonymous SNV C120R 0.918 0.948 0.932 353 1078 364 0.905 274 494 173 127 159 0.009 5561 chr11 2439767 2439767 T C rs886277 TRPM5 Nonsynonymous SNV N235S 0.275 0.333 0.33 150 323 128 0.385 97 52 17 16 27 0.018 5562 chr11 20648364 20648364 G C rs3740870 SLC6A5 Nonsynonymous SNV K223N 0.141 0.109 0.136 45 165 42 0.115 40 15 3 1 2 Benign 22.8 5563 chr1 183617105 183617105 A G rs1174658 APOBEC4 Nonsynonymous SNV F271S 0.382 0.404 0.463 146 448 155 0.374 136 87 28 28 23 1.891 5564 chr11 1972205 1972205 G A rs2240197 MRPL23 Nonsynonymous SNV G32S 0.065 0.057 0.054 25 76 22 0.064 16 2 1 0 1 23.2 5565 chr11 5345486 5345486 G A rs4910750 OR51B2 Synonymous SNV G14G 0.917 0.948 0.932 354 1077 364 0.908 274 494 173 127 160 0.306 5566 chr1 183617311 183617311 T A rs10911392 APOBEC4 Synonymous SNV I202I 0.039 0.036 0.017 10 46 14 0.026 5 1 0 0 0 0.349 5567 chr11 20648380 20648380 G A rs1805091 SLC6A5 Nonsynonymous SNV D229N 0.252 0.229 0.241 78 296 88 0.2 71 36 9 6 7 Benign 23.4 5568 chr11 126162607 126162607 G A rs3802814 TIRAP Synonymous SNV Q101Q 0.118 0.135 0.133 48 139 52 0.123 39 9 4 2 5 0.56 5569 chr11 5364742 5364742 C T rs11036913 OR51B5 Nonsynonymous SNV G5S 0.487 0.482 0.531 166 572 185 0.426 156 134 46 39 32 0.064 5570 chr11 18956196 18956196 C T rs78179510 MRGPRX1 Nonsynonymous SNV A46T 0.179 0.167 0.156 76 210 64 0.195 46 2 0 0 0 20.4 5571 chr11 17158120 17158120 C T rs61733866 PIK3C2A Nonsynonymous SNV S206N 0.032 0.018 0.01 5 38 7 0.013 3 0 1 0 0 Benign 18.69 5572 chr1 183617413 183617413 T C rs12045762 APOBEC4 Synonymous SNV A168A 0.039 0.036 0.017 10 46 14 0.026 5 1 0 0 0 0.615 5573 chr11 126162843 126162843 C T rs8177374 TIRAP Nonsynonymous SNV S180L 0.129 0.138 0.139 50 151 53 0.128 41 10 4 2 5 protective 23.6 5574 chr11 18729819 18729819 C T rs78892734 IGSF22 Nonsynonymous SNV A1008T 0.079 0.073 0.085 35 93 28 0.09 25 2 1 1 1 21 5575 chr11 5372863 5372863 T A rs10837882 OR51B6 Synonymous SNV T42T 0.189 0.18 0.19 60 222 69 0.154 56 15 5 5 5 4.638 5576 chr11 20649543 20649543 C T rs146042684 SLC6A5 Synonymous SNV A237A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign/Likely benign 14.99 5577 chr1 183617693 183617693 G A rs16861394 APOBEC4 Nonsynonymous SNV S75F 0.039 0.036 0.017 10 46 14 0.026 5 1 0 0 0 23.9 5578 chr1 177935050 177935050 T A rs1889981 CRYZL2P-SEC16B, SEC16B Synonymous SNV P130P 0.164 0.156 0.194 56 192 60 0.144 57 6 9 7 4 3.703 5579 chr11 5373114 5373114 G A rs5006888 OR51B6 Nonsynonymous SNV S126N 0.64 0.659 0.639 256 751 253 0.656 188 231 82 61 82 0.001 5580 chr11 126276896 126276896 A C rs150998763 ST3GAL4 Nonsynonymous SNV K53Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.01 5581 chr1 183876182 183876182 C T rs11591089 RGL1 Synonymous SNV D474D 0.284 0.281 0.173 102 334 108 0.262 51 37 14 2 8 15.61 5582 chr11 5373646 5373646 T C rs5024041 OR51B6 Synonymous SNV R303R 0.641 0.659 0.639 256 752 253 0.656 188 232 82 61 82 0.005 5583 chr11 5410934 5410934 T G rs1498467 OR51M1 Nonsynonymous SNV H102Q 0.825 0.875 0.83 315 968 336 0.808 244 399 147 102 126 0.002 5584 chr11 20805335 20805335 C T rs2280363 NELL1 Synonymous SNV S98S 0.148 0.18 0.173 71 174 69 0.182 51 12 6 2 6 10.9 5585 chr1 184765072 184765072 A G rs28927681 NIBAN1 Nonsynonymous SNV L609P 0.09 0.107 0.099 38 106 41 0.097 29 3 2 4 0 0.027 5586 chr11 17337005 17337005 G C rs200987538 NUCB2 Nonsynonymous SNV E329Q 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 22.3 5587 chr1 179310262 179310262 C T rs11576517 SOAT1 Synonymous SNV P141P 0.218 0.201 0.272 80 256 77 0.205 80 26 7 10 6 12.77 5588 chr1 179312752 179312752 C T rs10753191 SOAT1 Synonymous SNV V265V 0.094 0.083 0.129 37 110 32 0.095 38 11 3 3 1 14.02 5589 chr11 5411031 5411031 C T rs1498468 OR51M1 Nonsynonymous SNV L135F 0.825 0.875 0.83 314 968 336 0.805 244 399 147 102 125 5.479 5590 chr1 185119563 185119563 C T rs117998090 TRMT1L Synonymous SNV K136K 0.01 0.021 0.007 7 12 8 0.018 2 0 0 0 0 17.84 5591 chr1 179319541 179319541 C G rs3753526 SOAT1 Synonymous SNV L417L 0.043 0.029 0.068 21 50 11 0.054 20 4 0 2 0 14.32 5592 chr11 5411239 5411239 T C rs1498469 OR51M1 Nonsynonymous SNV I204T 0.825 0.875 0.83 314 968 336 0.805 244 399 147 102 125 0.004 5593 chr1 185135745 185135745 A G rs950327 SWT1 Synonymous SNV S42S 0.353 0.357 0.378 137 414 137 0.351 111 73 27 18 27 7.847 5594 chr1 179320578 179320578 A G rs13306731 SOAT1 Nonsynonymous SNV Q468R 0.042 0.029 0.068 21 49 11 0.054 20 4 0 2 0 12.42 5595 chr11 2169110 2169110 A G rs3741211 IGF2-AS 0.285 0.271 0.105 114 335 104 0.292 31 52 17 11 15 4.078 5596 chr11 5411395 5411395 C A rs9783355 OR51M1 Nonsynonymous SNV P256H 0.825 0.875 0.83 315 968 336 0.808 244 399 147 102 125 9.212 5597 chr1 185958737 185958737 A G rs7539719 HMCN1 Nonsynonymous SNV T1056A 0.032 0.031 0.027 21 37 12 0.054 8 0 0 2 1 Benign 0.009 5598 chr11 5411398 5411398 T G rs2736531 OR51M1 Nonsynonymous SNV L257R 0.39 0.461 0.412 160 458 177 0.41 121 82 38 23 30 26.1 5599 chr1 185970794 185970794 A G rs12087462 HMCN1 Synonymous SNV P1423P 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Benign 8.327 5600 chr1 179452275 179452275 G A rs10494520 AXDND1 Synonymous SNV A670A 0.075 0.078 0.099 34 88 30 0.087 29 6 0 4 1 11.03 5601 chr11 2638081 2638081 T C rs10766218 KCNQ1OT1 0.526 0.474 0 227 617 182 0.582 0 166 47 0 66 7.698 5602 chr11 5411579 5411579 G A rs10768906 OR51M1 Synonymous SNV K317K 0.825 0.875 0.83 315 968 336 0.808 244 399 147 102 125 1.143 5603 chr1 185984517 185984517 T C rs6665753 HMCN1 Synonymous SNV H1619H 0.403 0.388 0.432 150 473 149 0.385 127 92 27 26 28 Benign 0.124 5604 chr11 20104669 20104669 G A rs2028570 NAV2 Synonymous SNV P878P 0.536 0.549 0.517 205 629 211 0.526 152 168 65 39 51 11.31 5605 chr11 2638194 2638194 T - rs35383069 KCNQ1OT1 0.519 0.464 0 226 609 178 0.579 0 162 43 0 64 5606 chr11 2638195 2638195 T G rs114030398 KCNQ1OT1 0.509 0.456 0 221 597 175 0.567 0 156 43 0 61 Benign 0.056 5607 chr11 5411580 5411580 T C rs10768907 OR51M1 Nonsynonymous SNV F318L 0.825 0.875 0.83 315 968 336 0.808 244 399 147 102 125 0.001 5608 chr1 186031041 186031041 C T rs7522627 HMCN1 Synonymous SNV C2457C 0.627 0.628 0.599 244 736 241 0.626 176 232 73 53 75 Benign 11.88 5609 chr11 20112492 20112492 G A rs1837971 NAV2 Synonymous SNV T924T 0.515 0.531 0.5 193 605 204 0.495 147 158 62 36 44 15.75 5610 chr11 22881002 22881002 C T rs3213706 CCDC179 Nonsynonymous SNV R29Q 0.422 0.385 0.401 154 495 148 0.395 118 110 32 26 29 10.45 5611 chr1 186050417 186050417 A G rs10798035 HMCN1 Nonsynonymous SNV E2893G 0.571 0.549 0.537 196 670 211 0.503 158 195 61 43 50 Benign 33 5612 chr11 5424050 5424050 G A rs1909262 OR51J1 Nonsynonymous SNV R75H 0.39 0.461 0.408 158 458 177 0.405 120 82 38 22 29 24.6 5613 chr11 5443442 5443442 G C rs2736590 OR51Q1 Synonymous SNV V4V 0.411 0.466 0.422 171 483 179 0.438 124 93 38 26 33 0.856 5614 chr1 186101507 186101507 G A rs751331715 HMCN1 Synonymous SNV G4426G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.25 5615 chr11 5443700 5443700 C T rs2736588 OR51Q1 Synonymous SNV N90N 0.411 0.466 0.422 171 483 179 0.438 124 93 38 26 33 9.085 5616 chr1 186101539 186101539 A G rs10911825 HMCN1 Nonsynonymous SNV Q4437R 0.282 0.31 0.224 105 331 119 0.269 66 52 20 9 12 Benign 24.5 5617 chr11 17809639 17809639 C T rs10788 SERGEF Nonsynonymous SNV G457E 0.129 0.122 0.133 52 151 47 0.133 39 7 1 1 4 6.616 5618 chr11 5443739 5443739 T C rs2736587 OR51Q1 Synonymous SNV F103F 0.411 0.466 0.422 171 483 179 0.438 124 93 38 26 33 0.004 5619 chr11 2016658 2016658 G A rs756160943 HOTS Nonsynonymous SNV V78I 0.008 0.003 0 8 9 1 0.021 0 0 0 0 0 3.071 5620 chr11 5443867 5443867 C T rs10838092 OR51Q1 Nonsynonymous SNV T146I 0.411 0.466 0.422 171 483 179 0.438 124 93 38 26 33 3.456 5621 chr11 17809724 17809724 T C rs1528 SERGEF Nonsynonymous SNV K429E 0.129 0.122 0.133 52 151 47 0.133 39 7 1 1 4 10.11 5622 chr1 186277088 186277088 G C rs68069719 PRG4 Nonsynonymous SNV C612S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.017 5623 chr11 5443887 5443887 T C rs10838093 OR51Q1 Nonsynonymous SNV C153R 0.411 0.466 0.418 171 483 179 0.438 123 93 38 26 33 0.004 5624 chr11 128807694 128807694 G A rs35942033 TP53AIP1 Nonsynonymous SNV A7V 0.019 0.018 0.014 1 22 7 0.003 4 0 0 0 0 0.002 5625 chr11 26743240 26743240 C T rs113908376 SLC5A12 Nonsynonymous SNV V8I 0.01 0.01 0.024 6 12 4 0.015 7 0 0 0 0 2.533 5626 chr11 2016717 2016717 T A rs3741216 HOTS Synonymous SNV I97I 0.028 0.031 0.017 8 33 12 0.021 5 0 0 0 0 15.89 5627 chr1 186946912 186946912 G A rs2307198 PLA2G4A Nonsynonymous SNV R591K 0.977 0.977 0.973 379 1147 375 0.972 286 560 183 139 184 14.82 5628 chr11 5443893 5443893 G A rs10838094 OR51Q1 Nonsynonymous SNV V155I 0.411 0.466 0.418 171 483 179 0.438 123 93 38 26 33 0.007 5629 chr11 128839078 128839078 G A rs34232507 ARHGAP32 Synonymous SNV N1647N 0.019 0.018 0.01 1 22 7 0.003 3 0 0 0 0 7.473 5630 chr1 186957637 186957637 A G rs12720706 PLA2G4A Synonymous SNV A689A 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Benign 8.165 5631 chr11 19174228 19174228 C T rs112896980 ZDHHC13 Synonymous SNV C160C 0.013 0.018 0.014 2 15 7 0.005 4 0 0 0 0 15.36 5632 chr11 128844404 128844404 G A rs35287114 ARHGAP32 Synonymous SNV S533S 0.019 0.018 0.01 1 22 7 0.003 3 0 0 0 0 7.015 5633 chr11 5443963 5443963 G A rs10838095 OR51Q1 Nonsynonymous SNV R178H 0.413 0.466 0.415 171 485 179 0.438 122 93 38 26 33 6.948 5634 chr1 193074651 193074651 T A rs10921310 GLRX2 Nonsynonymous SNV R40W 0.771 0.76 0.806 298 905 292 0.764 237 355 109 96 111 11.03 5635 chr11 19251289 19251289 C G rs12273001 E2F8 Synonymous SNV T535T 0.052 0.018 0.078 19 61 7 0.049 23 0 0 1 1 9.501 5636 chr11 27114788 27114788 C T rs3183973 BBOX1 Synonymous SNV H136H 0.262 0.255 0.265 88 308 98 0.226 78 38 14 4 11 8.733 5637 chr11 5444061 5444061 G A rs2736586 OR51Q1 Nonsynonymous SNV V211M 0.411 0.466 0.418 171 483 179 0.438 123 93 38 26 33 0.115 5638 chr1 196227526 196227526 A G rs977157 KCNT2 Synonymous SNV D979D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 5639 chr11 27147270 27147270 G A rs1044273 BBOX1 Synonymous SNV V302V 0.207 0.203 0.201 65 243 78 0.167 59 22 8 2 8 7.651 5640 chr1 196642233 196642233 G A rs800292 CFH Nonsynonymous SNV V62I 0.233 0.219 0.177 78 273 84 0.2 52 35 7 5 6 Benign 0.04 5641 chr11 27362359 27362359 T G rs17244028 CCDC34 Nonsynonymous SNV E264A 0.294 0.341 0.235 103 345 131 0.264 69 50 28 7 10 24.2 5642 chr11 5444136 5444136 C T rs2647574 OR51Q1 Stop gain R236X 0.411 0.466 0.422 171 483 179 0.438 124 93 38 26 33 23.3 5643 chr11 129752426 129752426 G A rs76967949 NFRKB Synonymous SNV A359A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.648 5644 chr1 179983510 179983510 C G rs140608133 CEP350 Nonsynonymous SNV T641S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 8.379 5645 chr11 5444353 5444353 T C rs2647573 OR51Q1 Nonsynonymous SNV F308S 0.411 0.466 0.422 171 483 179 0.438 124 93 38 26 33 17.64 5646 chr11 27389681 27389681 C T rs72887882 LGR4 Synonymous SNV S839S 0.01 0.016 0.007 3 12 6 0.008 2 0 0 0 0 12.58 5647 chr1 196654324 196654324 A C rs1061147 CFH Synonymous SNV A307A 0.608 0.589 0.571 235 714 226 0.603 168 228 64 44 72 Benign 0.03 5648 chr11 2436201 2436201 C T rs202052284 TRPM5 Nonsynonymous SNV R519Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 26 5649 chr1 196874356 196874356 G T rs10801578 CFHR4 Nonsynonymous SNV E125D 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 0.352 5650 chr11 5461991 5461991 C A rs1498486 OR51I1 Nonsynonymous SNV A252S 0.496 0.424 0.486 186 582 163 0.477 143 139 32 35 41 23.9 5651 chr11 17656686 17656686 C T rs11024350 OTOG Synonymous SNV L2561L 0.141 0.148 0.146 66 166 57 0.169 43 20 5 3 4 Benign 11.3 5652 chr1 196876458 196876458 A G rs7417769 CFHR4 Nonsynonymous SNV N210S 0.654 0.695 0.619 247 768 267 0.633 182 261 92 53 79 0.066 5653 chr1 180124288 180124288 G C rs77647137 QSOX1 Synonymous SNV A82A 0.03 0.023 0.034 13 35 9 0.033 10 5 0 0 3 14.66 5654 chr11 5474838 5474838 G T rs2030094 OR51I2 Synonymous SNV G40G 0.443 0.388 0.405 179 520 149 0.459 119 117 31 25 41 0.053 5655 chr11 5475431 5475431 - CA rs35301588 OR51I2 Frameshift insertion N239Tfs*18 0.287 0.221 0.272 126 337 85 0.323 80 48 11 10 15 5656 chr11 5475597 5475597 C T rs11037503 OR51I2 Synonymous SNV S293S 0.286 0.221 0.265 125 336 85 0.321 78 48 11 10 15 7.476 5657 chr1 197009798 197009798 A G rs5998 F13B Synonymous SNV N602N 0.542 0.529 0.466 211 636 203 0.541 137 177 53 36 59 Benign 8.039 5658 chr11 5475598 5475598 G A rs139102367 OR51I2 Nonsynonymous SNV A294T 0.021 0.023 0.017 14 25 9 0.036 5 0 0 0 0 16.67 5659 chr1 197031021 197031021 C T rs6003 F13B Nonsynonymous SNV R115H 0.93 0.935 0.895 330 1092 359 0.846 263 516 167 118 138 Benign 5.616 5660 chr11 549959 549959 C T rs7942030 LRRC56 Synonymous SNV L128L 0.786 0.805 0.735 314 923 309 0.805 216 361 130 79 127 14.64 5661 chr1 197070521 197070521 C G rs12138336 ASPM Nonsynonymous SNV Q2620H 0.061 0.049 0.065 29 72 19 0.074 19 2 2 0 1 Benign/Likely benign 0.103 5662 chr11 5510284 5510284 A G rs417425 OR52D1 Synonymous SNV S116S 0.976 0.992 0.986 382 1146 381 0.979 290 559 189 143 187 0.002 5663 chr11 5510341 5510341 C T rs404280 OR52D1 Synonymous SNV Y135Y 0.612 0.547 0.595 242 718 210 0.621 175 218 50 47 74 0.004 5664 chr11 5510497 5510497 T C rs2467219 OR52D1 Synonymous SNV I187I 0.976 0.992 0.986 382 1146 381 0.979 290 559 189 143 187 0.98 5665 chr1 197070776 197070776 C T rs10922162 ASPM Synonymous SNV V2535V 0.169 0.154 0.136 58 198 59 0.149 40 22 9 2 5 Benign 11.75 5666 chr11 5510626 5510626 T C rs444878 OR52D1 Synonymous SNV H230H 0.976 0.992 0.986 382 1146 381 0.979 290 559 189 143 187 0.002 5667 chr11 284538 284538 T C rs6598047 NLRP6 Synonymous SNV P811P 0.708 0.711 0.67 282 831 273 0.723 197 300 99 63 102 0.033 5668 chr1 197070815 197070815 T C rs1412640 ASPM Synonymous SNV L2522L 0.932 0.938 0.905 334 1094 360 0.856 266 517 168 120 140 Benign 0.335 5669 chr11 5510688 5510688 T C rs7101919 OR52D1 Nonsynonymous SNV I251T 0.267 0.242 0.231 111 314 93 0.285 68 35 10 7 13 24.9 5670 chr1 181548341 181548341 A G rs17443123 CACNA1E Synonymous SNV A250A 0.14 0.159 0.184 70 164 61 0.179 54 7 4 4 9 9.782 5671 chr1 197070901 197070901 A G rs964201 ASPM Nonsynonymous SNV Y2494H 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 Benign 8.336 5672 chr11 209895 209897 CCC - rs3832797 RIC8A P210del 0.378 0.404 0.344 131 444 155 0.336 101 88 26 18 18 5673 chr1 181701799 181701799 T A rs35737760 CACNA1E Nonsynonymous SNV D840E 0.156 0.125 0.126 50 183 48 0.128 37 12 5 1 4 0.001 5674 chr11 55111238 55111238 C A rs11229158 OR4A16 Nonsynonymous SNV L188I 0.609 0.602 0.592 235 715 231 0.603 174 222 69 52 69 13.02 5675 chr1 197091537 197091537 A T rs4915337 ASPM Synonymous SNV S1193S 0.929 0.935 0.901 331 1091 359 0.849 265 515 167 119 139 Benign 0.029 5676 chr11 55111584 55111584 A T rs10896659 OR4A16 Nonsynonymous SNV K303M 0.605 0.594 0.534 234 710 228 0.6 157 221 67 50 68 13.1 5677 chr11 2190951 2190951 C T rs6356 TH Nonsynonymous SNV V81M 0.431 0.432 0.381 166 506 166 0.426 112 117 41 21 34 Benign 14.34 5678 chr1 197091550 197091550 G A rs143805893 ASPM Nonsynonymous SNV S1189F 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 10.3 5679 chr11 2923826 2923826 A G rs367035 SLC22A18 Star tloss M1? 0.489 0.523 0 208 574 201 0.533 0 136 52 0 58 Benign 3.657 5680 chr1 181706685 181706685 C T rs34488539 CACNA1E Synonymous SNV I1130I 0.169 0.151 0.15 56 198 58 0.144 44 17 6 1 5 16.6 5681 chr11 2924610 2924610 G A rs1048047 SLC22A18 Nonsynonymous SNV R97Q 0.693 0.682 0.595 267 813 262 0.685 175 276 92 57 95 0.151 5682 chr1 181725110 181725110 T C rs4652678 CACNA1E Synonymous SNV H1317H 0.28 0.289 0.248 101 329 111 0.259 73 46 17 8 9 2.606 5683 chr11 551753 551753 G A rs4963198 LRRC56 Nonsynonymous SNV R300H 0.624 0.602 0.554 253 732 231 0.649 163 233 77 43 81 11.83 5684 chr1 197112533 197112533 G A rs6677082 ASPM Synonymous SNV S283S 0.93 0.935 0.901 330 1092 359 0.846 265 516 167 119 138 Benign 7.979 5685 chr1 181741301 181741301 C T rs199930 CACNA1E Synonymous SNV N1672N 0.253 0.258 0.224 92 297 99 0.236 66 31 15 8 8 15.99 5686 chr11 20628650 20628650 A G rs34505618 SLC6A5 Synonymous SNV P25P 0.023 0.031 0.037 6 27 12 0.015 11 0 0 0 0 Benign 6.841 5687 chr11 26210725 26210725 T - ANO3 Star tloss M1? 0.003 0 0 0 4 0 0 0 0 0 0 0 5688 chr1 197128726 197128726 G A rs12128631 ZBTB41 Synonymous SNV L831L 0.169 0.154 0.139 58 198 59 0.149 41 22 9 2 5 2.708 5689 chr11 5528918 5528918 C T rs2227271 UBQLN3 Nonsynonymous SNV R624Q 0.315 0.279 0.296 126 370 107 0.323 87 60 18 13 14 14.63 5690 chr1 197390368 197390368 A G rs3902057 CRB1 Synonymous SNV L358L 0.991 0.992 0.993 383 1163 381 0.982 292 577 189 145 188 Benign 0.414 5691 chr11 30033191 30033191 G A rs3802914 KCNA4 Synonymous SNV G345G 0.155 0.161 0.163 58 182 62 0.149 48 17 4 0 5 0.005 5692 chr11 5529139 5529139 T C rs2234456 UBQLN3 Synonymous SNV A550A 0.325 0.294 0.313 131 381 113 0.336 92 64 18 14 16 0.008 5693 chr1 200143281 200143281 C T rs1060060 NR5A2 Synonymous SNV N451N 0.299 0.281 0.316 126 351 108 0.323 93 58 12 11 19 11.53 5694 chr11 26568966 26568966 A G rs2663168 ANO3 Synonymous SNV L240L 0.681 0.617 0.653 263 799 237 0.674 192 284 68 64 89 6.852 5695 chr11 5529865 5529865 G A rs186434 UBQLN3 Synonymous SNV S308S 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.009 5696 chr11 30255185 30255185 C T rs6169 FSHB Synonymous SNV Y76Y 0.45 0.469 0.49 207 528 180 0.531 144 121 39 32 52 Benign 7.985 5697 chr1 200522566 200522566 G C rs12120084 KIF14 Nonsynonymous SNV P1142A 0.454 0.406 0.405 171 533 156 0.438 119 126 30 27 41 0.018 5698 chr11 55322211 55322211 A G rs9804659 OR4C15 Synonymous SNV K89K 0.314 0.346 0.33 117 369 133 0.3 97 62 21 14 14 0.003 5699 chr11 3050622 3050622 G A rs148335154 CARS Nonsynonymous SNV L202F 0.014 0.021 0.003 2 16 8 0.005 1 0 0 0 0 Benign 0.009 5700 chr11 55339652 55339652 C T rs1459101 OR4C16 Stop gain Q17X 0.314 0.349 0.33 117 369 134 0.3 97 62 22 14 14 30 5701 chr11 212612 212612 C T rs138523328 RIC8A Stop gain Q361X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 5702 chr1 200534248 200534248 C T rs7543730 KIF14 Synonymous SNV E849E 0.639 0.578 0.616 239 750 222 0.613 181 247 61 56 71 16.07 5703 chr11 30974115 30974115 C A rs158633 DCDC1 Nonsynonymous SNV R864S 0.124 0.122 0.116 46 146 47 0.118 34 12 2 2 4 23.8 5704 chr1 200558363 200558363 T C rs6665951 KIF14 Synonymous SNV E541E 0.8 0.792 0.612 295 939 304 0.756 180 379 120 74 111 0.186 5705 chr11 55339798 55339798 C T rs557667 OR4C16 Synonymous SNV S65S 0.314 0.346 0.33 117 369 133 0.3 97 62 21 14 14 10.19 5706 chr11 31263112 31263112 A G rs2616812 DCDC1 Nonsynonymous SNV L369P 0.529 0.487 0.534 208 621 187 0.533 157 172 47 45 52 0.255 5707 chr1 200618238 200618238 T C rs6665604 DDX59 Synonymous SNV S363S 0.955 0.922 0.939 372 1121 354 0.954 276 534 163 130 177 4.182 5708 chr11 55339829 55339829 A G rs557590 OR4C16 Nonsynonymous SNV T76A 0.934 0.909 0.912 363 1097 349 0.931 268 512 157 122 168 0.008 5709 chr11 26692733 26692733 T C rs7114378 SLC5A12 Synonymous SNV R591R 0.306 0.294 0.272 106 359 113 0.272 80 55 17 11 7 0.013 5710 chr1 200635617 200635617 G A rs78479136 DDX59 Synonymous SNV S84S 0.06 0.073 0.037 23 70 28 0.059 11 0 0 1 1 11.59 5711 chr11 55339848 55339848 A G rs118070041 OR4C16 Nonsynonymous SNV D82G 0.009 0.01 0.02 2 11 4 0.005 6 1 0 0 0 17.78 5712 chr11 26692742 26692742 G A rs7128823 SLC5A12 Synonymous SNV N588N 0.306 0.297 0.272 107 359 114 0.274 80 55 17 11 7 0.835 5713 chr1 200817238 200817238 A G rs139956440 CAMSAP2 Synonymous SNV G431G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.503 5714 chr11 55340379 55340379 T C rs559449 OR4C16 Nonsynonymous SNV L259P 0.662 0.646 0.622 247 777 248 0.633 183 254 77 56 75 0.09 5715 chr1 200956288 200956288 A G rs2275485 KIF21B Synonymous SNV A1150A 0.132 0.148 0.109 60 155 57 0.154 32 11 4 3 2 0.598 5716 chr11 18727448 18727448 T C rs1867877 IGSF22 Nonsynonymous SNV T1276A 0.036 0.029 0.037 7 42 11 0.018 11 1 0 0 0 17.78 5717 chr1 200959302 200959302 G A rs2297911 KIF21B Synonymous SNV D998D 0.132 0.148 0.109 60 155 57 0.154 32 11 4 3 2 7.721 5718 chr11 5536537 5536537 A C rs393044 UBQLNL Nonsynonymous SNV W379G 0.995 0.997 0.993 386 1168 383 0.99 292 581 191 145 191 0.002 5719 chr1 201016296 201016296 G A rs3850625 CACNA1S Nonsynonymous SNV R1539C 0.133 0.133 0.139 33 156 51 0.085 41 16 0 4 1 Benign 34 5720 chr11 5536848 5536848 G A rs2017433 UBQLNL Nonsynonymous SNV A275V 0.717 0.75 0.731 286 842 288 0.733 215 310 115 81 104 0.623 5721 chr11 32624405 32624405 C T rs201893 CCDC73 Synonymous SNV K1064K 0.221 0.224 0.316 97 259 86 0.249 93 40 14 9 17 10.15 5722 chr1 201047111 201047111 A G rs9427714 CACNA1S Synonymous SNV C505C 0.33 0.263 0.262 126 387 101 0.323 77 71 14 9 21 Benign 8.966 5723 chr11 22646800 22646800 G A rs113910234 FANCF Nonsynonymous SNV A186V 0.011 0.008 0.027 3 13 3 0.008 8 0 0 0 0 Benign/Likely benign 5.835 5724 chr11 32657266 32657266 T C rs201854 CCDC73 Synonymous SNV T387T 0.712 0.698 0.599 292 836 268 0.749 176 306 91 74 103 0.014 5725 chr11 554166 554166 C G rs10902170 LRRC56 Nonsynonymous SNV R507G 0.825 0.805 0.796 324 968 309 0.831 234 393 129 95 134 0.012 5726 chr1 201060865 201060865 G A rs2296383 CACNA1S Synonymous SNV I199I 0.389 0.401 0.415 151 457 154 0.387 122 90 34 29 25 Benign 15.53 5727 chr11 27679916 27679916 C T rs6265 BDNF Nonsynonymous SNV V66M 0.174 0.18 0.116 71 204 69 0.182 34 20 6 3 5 Benign 24.1 5728 chr11 32874926 32874926 G A rs11032025 PRRG4 Synonymous SNV P178P 0.462 0.414 0.473 167 542 159 0.428 139 141 34 30 38 4.917 5729 chr1 201112981 201112981 A G rs8158 TMEM9 Synonymous SNV Y122Y 0.755 0.727 0.718 308 886 279 0.79 211 339 105 72 118 0.392 5730 chr11 554214 554214 G C rs10902171 LRRC56 Nonsynonymous SNV D523H 0.824 0.805 0.803 318 967 309 0.815 236 392 129 96 130 18.25 5731 chr11 2436464 2436464 C T rs34551253 TRPM5 Nonsynonymous SNV A456T 0.027 0.055 0.034 27 32 21 0.069 10 0 0 0 1 0.002 5732 chr1 201122947 201122947 T G rs1925361 TMEM9 Synonymous SNV T35T 0.944 0.911 0.915 376 1108 350 0.964 269 524 162 123 181 9.425 5733 chr1 201166383 201166383 G A rs4915221 IGFN1 Nonsynonymous SNV R102H 0.579 0.523 0.558 204 680 201 0.523 164 186 54 48 51 13.32 5734 chr11 55433040 55433040 T C rs11230600 OR4C6 Nonsynonymous SNV I133T 0.314 0.346 0.33 117 369 133 0.3 97 62 21 14 14 13.78 5735 chr11 55541098 55541098 G A rs297118 OR5D13 Nonsynonymous SNV C62Y 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.281 5736 chr1 201166435 201166435 T C rs11589317 IGFN1 Synonymous SNV T119T 0.93 0.909 0.929 361 1092 349 0.926 273 509 157 127 167 6.353 5737 chr1 201168499 201168499 G A rs1534057 IGFN1 Synonymous SNV P135P 0.206 0.172 0.17 60 242 66 0.154 50 30 6 6 2 9.545 5738 chr11 55563776 55563776 T G rs297054 OR5D14 Nonsynonymous SNV S249A 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.001 5739 chr1 201175227 201175227 C A rs832156 IGFN1 Nonsynonymous SNV D402E 0.768 0.786 0.738 293 902 302 0.751 217 350 124 83 110 16.76 5740 chr11 32996805 32996805 C T rs11032076 QSER1 Synonymous SNV V1790V 0.119 0.107 0.02 41 140 41 0.105 6 11 2 2 1 16.02 5741 chr1 183191324 183191324 C A rs2296306 LAMC2 Nonsynonymous SNV D247E 0.044 0.049 0.034 18 52 19 0.046 10 0 0 0 0 Benign 12.5 5742 chr11 55587117 55587117 T A rs297082 OR5D18 Synonymous SNV T4T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.354 5743 chr1 201175274 201175274 A G rs9651057 IGFN1 Nonsynonymous SNV Q418R 0.423 0.414 0.463 196 497 159 0.503 136 112 38 37 50 5.492 5744 chr11 55587511 55587511 A G rs297081 OR5D18 Nonsynonymous SNV N136D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.049 5745 chr1 201175715 201175715 G T rs1341631 IGFN1 Nonsynonymous SNV R565L 0.771 0.786 0.738 293 905 302 0.751 217 349 124 83 110 0.024 5746 chr11 290891 290891 T C rs72636977 PGGHG Synonymous SNV Y228Y 0.063 0.076 0.085 28 74 29 0.072 25 5 2 0 0 0.002 5747 chr11 55587914 55587914 A G rs55832853 OR5D18 Nonsynonymous SNV H270R 0.331 0.37 0.33 126 389 142 0.323 97 65 24 13 15 0.005 5748 chr11 33079580 33079580 A G rs2273549 TCP11L1 Nonsynonymous SNV K178R 0.244 0.221 0.207 100 287 85 0.256 61 33 12 3 11 0.009 5749 chr1 201176018 201176018 A G rs10753895 IGFN1 Nonsynonymous SNV D666G 0.773 0.792 0.738 294 907 304 0.754 217 350 125 83 110 0.979 5750 chr11 290918 290918 G A rs72636978 PGGHG Synonymous SNV Q237Q 0.062 0.076 0.085 28 73 29 0.072 25 5 2 0 0 0.247 5751 chr11 55606302 55606302 G T rs6591699 OR5D16 Synonymous SNV L25L 0.583 0.635 0.602 228 685 244 0.585 177 191 76 54 61 0.539 5752 chr1 183516241 183516241 C T rs3768589 SMG7 Nonsynonymous SNV P874S 0.014 0.018 0.003 4 16 7 0.01 1 0 0 0 0 21.3 5753 chr11 33563598 33563598 C T rs2076624 KIAA1549L Synonymous SNV S163S 0.047 0.042 0.058 16 55 16 0.041 17 3 0 0 0 11.52 5754 chr11 2320884 2320884 A G rs1501466 C11orf21 Synonymous SNV G67G 0.118 0.128 0.099 42 138 49 0.108 29 5 3 1 0 0.011 5755 chr1 201176108 201176108 G A rs12094334 IGFN1 Nonsynonymous SNV G696D 0.319 0.318 0.31 106 375 122 0.272 91 64 20 17 20 8.357 5756 chr11 55606818 55606818 C T rs11231253 OR5D16 Synonymous SNV S197S 0.445 0.461 0.401 175 523 177 0.449 118 119 41 27 34 14.5 5757 chr11 556521 556521 C G rs28406183 LMNTD2 Synonymous SNV P348P 0.951 0.951 0.942 372 1116 365 0.954 277 532 173 130 178 9.806 5758 chr11 2920764 2920764 G A rs74840067 SLC22A18AS Synonymous SNV R56R 0.044 0.049 0.078 22 52 19 0.056 23 1 0 2 1 0.696 5759 chr1 201176968 201176968 A G rs12063867 IGFN1 Nonsynonymous SNV M983V 0.32 0.318 0.313 106 376 122 0.272 92 64 20 17 20 0.013 5760 chr11 5566030 5566030 A G rs1995158 OR52H1 Nonsynonymous SNV C242R 0.818 0.794 0.864 322 960 305 0.826 254 396 121 107 134 0.001 5761 chr11 33565593 33565593 C T rs2235944 KIAA1549L Synonymous SNV S828S 0.048 0.042 0.058 16 56 16 0.041 17 3 0 0 0 9.322 5762 chr11 33581306 33581306 G A rs2281380 KIAA1549L Synonymous SNV T1289T 0.406 0.427 0.367 164 477 164 0.421 108 91 37 20 25 14.2 5763 chr1 201177246 201177246 T C rs72751165 IGFN1 Synonymous SNV G1075G 0.319 0.318 0.313 106 375 122 0.272 92 64 20 17 20 0.014 5764 chr11 5566051 5566051 C A rs1995157 OR52H1 Nonsynonymous SNV G235C 0.569 0.536 0.636 236 668 206 0.605 187 198 58 62 68 14.03 5765 chr11 26621117 26621117 A C rs11604868 ANO3 Synonymous SNV A418A 0.171 0.174 0.18 56 201 67 0.144 53 13 5 5 3 3.465 5766 chr1 201177278 201177278 C T rs7551098 IGFN1 Nonsynonymous SNV A1086V 0.319 0.318 0.313 106 375 122 0.272 92 64 20 17 20 0.065 5767 chr11 16837788 16837788 G A rs217750 PLEKHA7 Synonymous SNV R630R 0.096 0.094 0.071 34 113 36 0.087 21 5 1 1 2 11.71 5768 chr11 33631423 33631423 G A rs2076622 KIAA1549L Synonymous SNV K1730K 0.425 0.422 0.415 176 499 162 0.451 122 99 39 25 33 5.415 5769 chr1 184663537 184663537 A C rs9425343 EDEM3 Nonsynonymous SNV I820S 0.348 0.367 0.388 144 409 141 0.369 114 69 30 21 29 0.07 5770 chr11 5566112 5566112 C T rs1995156 OR52H1 Synonymous SNV T214T 0.57 0.536 0.636 236 669 206 0.605 187 198 58 62 68 4.903 5771 chr1 201177538 201177538 G T rs7551538 IGFN1 Nonsynonymous SNV A1173S 0.319 0.318 0.313 106 375 122 0.272 92 64 20 17 20 21.5 5772 chr11 19207841 19207841 C T rs13451 CSRP3 Nonsynonymous SNV R56Q 0.136 0.133 0.143 38 160 51 0.097 42 12 6 4 0 Benign 12.31 5773 chr11 2423913 2423913 A C rs2234278 TSSC4 Nonsynonymous SNV H17P 0.049 0.036 0.027 22 58 14 0.056 8 1 0 0 2 0.002 5774 chr11 5566365 5566365 T C rs1566275 OR52H1 Nonsynonymous SNV H130R 0.818 0.794 0.864 322 960 305 0.826 254 396 121 107 134 0.002 5775 chr1 184663581 184663581 T C rs9425634 EDEM3 Synonymous SNV Q805Q 0.417 0.448 0.452 166 489 172 0.426 133 98 43 32 37 0.019 5776 chr1 201178125 201178125 G A rs116214061 IGFN1 Synonymous SNV R1368R 0.02 0.021 0 4 23 8 0.01 0 0 0 0 0 6.461 5777 chr11 5566489 5566489 C T rs10769054 OR52H1 Nonsynonymous SNV A89T 0.57 0.536 0.636 236 669 206 0.605 187 198 58 62 68 13.99 5778 chr11 2950558 2950558 A G rs13390 PHLDA2 Synonymous SNV L13L 0.127 0.122 0.17 51 149 47 0.131 50 11 3 5 5 10.69 5779 chr11 2424541 2424541 C G rs2234279 TSSC4 Nonsynonymous SNV H226Q 0.059 0.044 0.034 30 69 17 0.077 10 3 0 0 2 0.021 5780 chr11 33680371 33680371 C T rs12280103 KIAA1549L Synonymous SNV S1978S 0.27 0.286 0.303 118 317 110 0.303 89 45 18 15 12 20.4 5781 chr1 184675814 184675814 G A rs1062994 EDEM3 Synonymous SNV N722N 0.349 0.367 0.398 144 410 141 0.369 117 69 30 22 29 9.671 5782 chr1 201178470 201178470 G A rs12757706 IGFN1 Synonymous SNV R1483R 0.319 0.318 0.313 106 375 122 0.272 92 64 20 17 20 9.215 5783 chr11 3028140 3028140 G A rs729662 CARS1 Synonymous SNV P623P 0.331 0.307 0.33 131 389 118 0.336 97 54 18 20 22 13.62 5784 chr1 201179050 201179050 A G rs1722732 IGFN1 Nonsynonymous SNV N1677D 0.371 0.37 0.49 168 436 142 0.431 144 0 0 0 0 0.001 5785 chr11 33777334 33777334 C T rs1402954 FBXO3 Nonsynonymous SNV V221I 0.155 0.141 0.122 46 182 54 0.118 36 13 5 0 2 14.93 5786 chr1 184677464 184677464 G A rs3736757 EDEM3 Synonymous SNV I620I 0.376 0.448 0.524 154 442 172 0.395 154 127 61 42 47 16.14 5787 chr11 55681494 55681494 G A rs2457239 OR5W2 Nonsynonymous SNV R189C 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.22 5788 chr11 30900214 30900214 G A rs200380430 DCDC1 Stop gain R864X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 37 5789 chr1 201179068 201179068 G A rs199816935 IGFN1 Nonsynonymous SNV G1683R 0.486 0.479 0.486 188 571 184 0.482 143 0 0 0 0 0.369 5790 chr11 27016709 27016709 G A rs140603082 FIBIN Synonymous SNV X212X 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.951 5791 chr11 556857 556857 G C rs7938269 LMNTD2 Synonymous SNV G318G 0.953 0.951 0.922 373 1119 365 0.956 271 537 173 128 179 0.517 5792 chr1 186052024 186052024 G A rs74967568 HMCN1 Nonsynonymous SNV G2939S 0.039 0.036 0.031 11 46 14 0.028 9 3 0 0 0 Benign/Likely benign 34 5793 chr11 55703011 55703011 G A rs61995929 OR5I1 Nonsynonymous SNV P289L 0.044 0.063 0.058 16 52 24 0.041 17 1 0 2 0 25.8 5794 chr1 201179082 201179082 G A rs1772843 IGFN1 Synonymous SNV G1687G 0.486 0.474 0.422 185 570 182 0.474 124 0 0 0 0 0.832 5795 chr1 201180084 201180084 G T rs61396495 IGFN1 Synonymous SNV G2021G 0.255 0.289 0.255 89 299 111 0.228 75 36 17 15 13 0.424 5796 chr1 186097290 186097290 T C rs115171363 HMCN1 Synonymous SNV H4257H 0.008 0.01 0.01 4 9 4 0.01 3 0 0 0 0 Benign/Likely benign 5.948 5797 chr1 201180501 201180501 T C rs71635536 IGFN1 Synonymous SNV F2160F 0.319 0.32 0.313 105 375 123 0.269 92 64 20 17 19 0.096 5798 chr11 55746891 55746891 G A rs7481466 OR7E5P 0 0 0.993 0 0 0 0 292 0 0 145 0 3.376 5799 chr1 186275760 186275760 G A rs16825150 PRG4 Synonymous SNV K169K 0.099 0.117 0.105 34 116 45 0.087 31 4 4 1 3 8.967 5800 chr1 201181217 201181217 A G rs12070918 IGFN1 Nonsynonymous SNV D2399G 0.32 0.32 0.313 106 376 123 0.272 92 64 20 17 20 0.042 5801 chr11 55761221 55761221 C T rs2449134 OR5F1 Nonsynonymous SNV S294N 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.148 5802 chr1 186276268 186276291 GAGCCTGCACCCACCACTCCCAAA - rs770844232 PRG4 T344_T351del 0.097 0.117 0.078 34 114 45 0.087 23 3 4 1 3 5803 chr11 34502345 34502345 T C rs2231828 ELF5 Synonymous SNV T120T 0.288 0.315 0.279 140 338 121 0.359 82 45 18 10 29 0.002 5804 chr11 55761738 55761738 T G rs2128152 OR5F1 Synonymous SNV R122R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.162 5805 chr1 201181223 201181223 A G rs12070919 IGFN1 Nonsynonymous SNV N2401S 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 0.276 5806 chr11 2438963 2438963 C A rs34350821 TRPM5 Nonsynonymous SNV V335L 0.106 0.104 0.126 51 125 40 0.131 37 10 4 3 1 23.8 5807 chr11 32456562 32456562 G A rs1799925 WT1 Synonymous SNV P115P 0.08 0.099 0.092 45 94 38 0.115 27 6 6 3 3 Benign 5.684 5808 chr11 34668143 34668143 C T rs2281910 EHF Synonymous SNV L85L 0.202 0.18 0.146 85 237 69 0.218 43 27 3 2 11 12.15 5809 chr11 55798152 55798152 G A rs1482011 OR5AS1 Synonymous SNV L86L 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 7.678 5810 chr1 186294927 186294927 A C rs189452021 TPR Synonymous SNV G2027G 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 8.703 5811 chr11 557989 557989 C T rs7129811 LMNTD2 Synonymous SNV Q150Q 0.602 0.536 0.391 224 707 206 0.574 115 218 51 36 69 8.395 5812 chr11 34680400 34680400 T A rs286891 EHF Synonymous SNV I252I 0.117 0.099 0.105 34 137 38 0.087 31 9 2 1 1 12.4 5813 chr1 201181920 201181920 G T rs12060924 IGFN1 Synonymous SNV G2633G 0.319 0.32 0.313 106 375 123 0.272 92 64 20 17 20 3.184 5814 chr11 558884 558884 C T rs2061586 LMNTD2 Nonsynonymous SNV A44T 0.842 0.841 0.806 328 989 323 0.841 237 416 135 94 139 3.111 5815 chr1 186316488 186316488 C T rs3753565 TPR Nonsynonymous SNV S960N 0.097 0.117 0.105 34 114 45 0.087 31 3 4 1 3 23.3 5816 chr1 201182609 201182609 G A rs61742375 IGFN1 Nonsynonymous SNV R2863Q 0.02 0.021 0 4 23 8 0.01 0 0 0 0 0 2.847 5817 chr11 56000403 56000403 C G rs10791893 OR5T2 Nonsynonymous SNV V87L 0.894 0.891 0.854 352 1050 342 0.903 251 469 152 106 157 0.002 5818 chr11 34937813 34937813 G A rs2956114 APIP Nonsynonymous SNV R7W 0.356 0.344 0.296 150 418 132 0.385 87 78 19 7 25 Benign 22.9 5819 chr1 201183363 201183363 C T rs2282415 IGFN1 Synonymous SNV A2929A 0.32 0.32 0.306 107 376 123 0.274 90 64 20 17 20 14.7 5820 chr11 5602438 5602438 T A rs2341432 OR52B6 Nonsynonymous SNV L111H 0.548 0.544 0.49 204 643 209 0.523 144 172 55 29 49 5.7 5821 chr11 34937931 34937931 G A rs2956111 PDHX Nonsynonymous SNV G5S 0.356 0.346 0.296 150 418 133 0.385 87 79 19 7 25 Benign 9.188 5822 chr11 17449929 17449929 C T rs1799858 ABCC8 Synonymous SNV K649K 0.106 0.135 0.105 55 124 52 0.141 31 6 6 2 4 Benign 14.34 5823 chr1 201183402 201183402 T C rs1568810 IGFN1 Synonymous SNV P2942P 0.319 0.32 0.313 107 375 123 0.274 92 64 20 17 20 6.131 5824 chr11 5602615 5602615 A G rs2341434 OR52B6 Nonsynonymous SNV H170R 0.548 0.544 0.49 204 643 209 0.523 144 172 55 29 49 0.001 5825 chr1 201184275 201184275 C T rs2275673 IGFN1 Synonymous SNV T2996T 0.319 0.32 0.299 106 375 123 0.272 88 64 20 17 20 11.23 5826 chr11 5602679 5602679 T C rs892336 OR52B6 Synonymous SNV N191N 0.548 0.544 0.49 204 643 209 0.523 144 172 55 29 49 3.187 5827 chr1 201187764 201187764 T C rs10920144 IGFN1 Synonymous SNV A3292A 0.842 0.836 0.857 338 989 321 0.867 252 423 133 110 144 0.129 5828 chr11 5602790 5602790 A G rs2163946 OR52B6 Synonymous SNV L228L 0.548 0.544 0.49 204 643 209 0.523 144 172 55 29 49 3.283 5829 chr11 33053005 33053005 T C rs36077875 DEPDC7 Synonymous SNV F288F 0.037 0.034 0.054 12 43 13 0.031 16 0 0 0 0 3.611 5830 chr11 5602928 5602928 G C rs10838375 OR52B6 Synonymous SNV A274A 0.548 0.544 0.49 204 643 209 0.523 144 172 55 29 49 0.391 5831 chr1 201195119 201195119 C T rs3738270 IGFN1 Nonsynonymous SNV H3552Y 0.661 0.622 0.663 271 776 239 0.695 195 260 70 66 92 17.1 5832 chr11 5602929 5602929 C A rs74053516 OR52B6 Nonsynonymous SNV L275I 0.06 0.034 0.068 23 71 13 0.059 20 3 1 0 1 5.155 5833 chr1 201285759 201285759 A G rs1779297 PKP1 Synonymous SNV K260K 0.998 0.997 0.993 388 1172 383 0.995 292 585 191 145 193 4.617 5834 chr11 5602968 5602968 G A rs10769086 OR52B6 Nonsynonymous SNV V288I 0.779 0.786 0.803 315 915 302 0.808 236 357 118 93 128 0.003 5835 chr11 2924591 2924591 G A rs1048046 SLC22A18 Nonsynonymous SNV A91T 0.214 0.169 0.109 69 251 65 0.177 32 20 8 2 4 7.349 5836 chr1 197030201 197030201 T C rs5997 F13B Synonymous SNV T152T 0.841 0.846 0.895 294 987 325 0.754 263 480 157 118 133 Benign 7.96 5837 chr1 201294893 201294893 A T rs146324118 PKP1 Nonsynonymous SNV K678M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 28.2 5838 chr11 35243921 35243921 G A rs140184039 CD44 0.012 0.003 0.003 5 14 1 0.013 1 0 0 0 0 5.867 5839 chr11 3381369 3381369 G C rs62619253 ZNF195 Nonsynonymous SNV P218R 0.129 0.107 0.099 42 152 41 0.108 29 8 1 3 0 13.16 5840 chr11 56043604 56043604 A G rs12360890 OR5T1 Nonsynonymous SNV S164G 0.431 0.44 0.415 167 506 169 0.428 122 111 40 25 34 0.001 5841 chr11 20959394 20959394 C T rs8176786 NELL1 Nonsynonymous SNV R297W 0.058 0.06 0.051 24 68 23 0.062 15 0 2 1 0 24.1 5842 chr1 201334382 201334382 G A rs3729547 TNNT2 Synonymous SNV I101I 0.736 0.75 0.762 281 864 288 0.721 224 315 110 85 99 Benign/Likely benign 14.24 5843 chr11 35308369 35308369 T C rs1042113 SLC1A2 Synonymous SNV V407V 0.205 0.219 0.221 77 241 84 0.197 65 25 10 9 8 6.234 5844 chr11 3383121 3383121 T C rs201739425 ZNF195 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 6.165 5845 chr1 201777250 201777250 C T rs2820289 NAV1 Nonsynonymous SNV S879L 0.055 0.036 0.058 16 64 14 0.041 17 0 0 0 0 24.6 5846 chr1 197061042 197061042 T C rs150906798 ASPM Nonsynonymous SNV I1562V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 17.52 5847 chr11 56043702 56043702 G C rs7125697 OR5T1 Synonymous SNV L196L 0.636 0.648 0.622 243 747 249 0.623 183 239 79 56 80 0.245 5848 chr11 35327748 35327748 C T rs752949 SLC1A2 Synonymous SNV P201P 0.21 0.219 0.211 76 246 84 0.195 62 26 11 9 8 12.44 5849 chr11 56058197 56058197 G A rs1842674 OR8H1 Synonymous SNV L114L 0.433 0.451 0.415 167 508 173 0.428 122 111 40 25 34 2.785 5850 chr1 201860626 201860626 A G rs2250377 SHISA4 Nonsynonymous SNV I159M 0.756 0.758 0.724 286 888 291 0.733 213 332 106 76 101 18.92 5851 chr11 2638061 2638061 A G rs1015573409 KCNQ1OT1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.14 5852 chr11 56058535 56058535 C T rs11600896 OR8H1 Nonsynonymous SNV G2S 0.18 0.174 0.16 74 211 67 0.19 47 20 5 3 7 0.083 5853 chr11 2943671 2943671 G C rs1129782 SLC22A18 Nonsynonymous SNV W226C 0.223 0.185 0.163 82 262 71 0.21 48 26 3 4 5 13.39 5854 chr1 201869257 201869257 G A rs2820312 LMOD1 Nonsynonymous SNV T295M 0.248 0.247 0.262 104 291 95 0.267 77 32 7 7 10 2.646 5855 chr11 56086147 56086147 T G rs960193 OR8K3 Nonsynonymous SNV L122R 0.627 0.635 0.619 238 736 244 0.61 182 230 76 55 78 0.02 5856 chr1 201934578 201934578 G A rs4648 TIMM17A Nonsynonymous SNV V113I 0.127 0.096 0.167 49 149 37 0.126 49 12 4 5 3 22.1 5857 chr11 56113516 56113516 T C rs1905055 OR8K1 Star tloss M1? 0.631 0.641 0.619 241 741 246 0.618 182 232 77 55 78 3.23 5858 chr1 197094030 197094030 C T rs6676084 ASPM Synonymous SNV R1046R 0.374 0.37 0.293 152 439 142 0.39 86 87 30 17 35 Benign 15.98 5859 chr11 36595600 36595600 A G rs3740955 RAG1 Nonsynonymous SNV H249R 0.369 0.365 0.361 136 433 140 0.349 106 83 24 21 23 Benign 0.001 5860 chr1 201969082 201969082 G A rs1130790 RNPEP Synonymous SNV Q91Q 0.457 0.487 0.48 176 537 187 0.451 141 121 48 33 42 13.36 5861 chr11 56113575 56113575 A G rs10896271 OR8K1 Nonsynonymous SNV M21V 0.429 0.453 0.415 169 504 174 0.433 122 113 40 23 34 0.174 5862 chr1 197108946 197108946 A G rs17550662 ASPM Synonymous SNV I659I 0.082 0.094 0.068 37 96 36 0.095 20 2 0 0 2 Benign 6.844 5863 chr1 201970562 201970562 T C rs4332408 RNPEP Synonymous SNV V131V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.016 5864 chr11 36597734 36597734 A G rs1980131 RAG1 Synonymous SNV A960A 0.106 0.091 0.116 35 125 35 0.09 34 6 2 3 3 Benign/Likely benign 0.083 5865 chr11 56113593 56113593 C A rs10896272 OR8K1 Nonsynonymous SNV P27T 0.428 0.453 0.412 169 503 174 0.433 121 112 40 23 34 23 5866 chr1 201981218 201981218 C G rs11543979 ELF3 Synonymous SNV G99G 0.286 0.273 0.32 104 336 105 0.267 94 46 14 12 14 10.62 5867 chr11 205559 205559 A G rs201029977 BET1L Nonsynonymous SNV C74R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.583 5868 chr1 201981862 201981862 T C rs2819362 ELF3 Synonymous SNV P191P 0.542 0.526 0.548 221 636 202 0.567 161 174 55 45 62 0.031 5869 chr1 197480927 197480927 C T rs12142127 DENND1B Synonymous SNV Q582Q 0.314 0.328 0.316 128 369 126 0.328 93 51 26 16 21 11.79 5870 chr11 56113764 56113764 G A rs17614327 OR8K1 Nonsynonymous SNV A84T 0.084 0.068 0.061 24 99 26 0.062 18 1 1 0 0 0.027 5871 chr1 202092332 202092332 C G rs3795594 GPR37L1 Nonsynonymous SNV P81A 0.079 0.07 0.082 40 93 27 0.103 24 0 3 1 4 2.751 5872 chr11 18127464 18127464 C T rs77233279 SAAL1 Nonsynonymous SNV G42E 0.039 0.026 0.031 14 46 10 0.036 9 0 0 0 0 24.9 5873 chr1 197704717 197704717 C T rs17641524 DENND1B Synonymous SNV S17S 0.232 0.253 0.241 95 272 97 0.244 71 28 12 8 10 2.072 5874 chr11 3239559 3239559 G A rs75003193 MRGPRG Nonsynonymous SNV A162V 0.021 0.016 0.027 9 25 6 0.023 8 1 0 0 0 0.522 5875 chr11 56127746 56127746 A G rs7942390 OR8J1 Synonymous SNV R8R 0.952 0.958 0.932 372 1118 368 0.954 274 531 177 128 177 0.003 5876 chr1 197874949 197874949 T C rs2270763 C1orf53 Synonymous SNV D96D 0.311 0.357 0.401 146 365 137 0.374 118 60 25 23 24 0.106 5877 chr1 202092360 202092360 G A rs3795595 GPR37L1 Nonsynonymous SNV G90D 0.887 0.896 0.823 326 1041 344 0.836 242 460 154 99 136 0.022 5878 chr11 56127829 56127829 G T rs7927015 OR8J1 Nonsynonymous SNV G36V 0.08 0.063 0.061 23 94 24 0.059 18 1 1 0 0 0.002 5879 chr1 197896728 197896728 T C rs12046958 LHX9 Synonymous SNV N247N 0.184 0.159 0.133 74 216 61 0.19 39 20 8 6 7 1.518 5880 chr11 290715 290715 G A rs149921679 PGGHG Nonsynonymous SNV G170R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 5881 chr1 202092415 202092415 A G rs3795596 GPR37L1 Synonymous SNV G108G 0.887 0.896 0.82 326 1041 344 0.836 241 460 154 99 136 0.349 5882 chr11 56128062 56128062 A T rs7942730 OR8J1 Nonsynonymous SNV M114L 0.08 0.063 0.061 23 94 24 0.059 18 1 1 0 0 0.001 5883 chr11 3249552 3249552 C T rs4391795 MRGPRE Nonsynonymous SNV G160S 0.44 0.479 0.456 196 516 184 0.503 134 109 43 23 48 14.35 5884 chr1 200017586 200017586 C G rs2821368 NR5A2 Synonymous SNV P178P 0.201 0.188 0.218 87 236 72 0.223 64 25 4 7 10 13.29 5885 chr1 202092580 202092580 T C rs7516762 GPR37L1 Synonymous SNV S163S 0.887 0.896 0.82 326 1041 344 0.836 241 460 154 99 136 2.3 5886 chr11 397331 397331 G C rs200371913 PKP3 Nonsynonymous SNV R277P 0.077 0.094 0.092 27 90 36 0.069 27 3 1 0 1 22.8 5887 chr11 56128524 56128524 C T rs7928704 OR8J1 Synonymous SNV L268L 0.952 0.958 0.932 372 1118 368 0.954 274 531 177 128 177 1.31 5888 chr1 202183308 202183308 C T rs10920362 LGR6 Nonsynonymous SNV S9L 0.376 0.422 0.354 146 442 162 0.374 104 78 33 19 30 5.849 5889 chr11 3249984 3249984 C T rs12295710 MRGPRE Nonsynonymous SNV G16S 0.472 0.505 0.503 206 554 194 0.528 148 129 47 33 53 0.962 5890 chr11 35456061 35456061 T C rs61736408 PAMR1 Nonsynonymous SNV Q431R 0.107 0.107 0.126 33 126 41 0.085 37 8 3 0 0 8.448 5891 chr11 56143156 56143156 C T rs11228165 OR8U1, OR8U8 Synonymous SNV D19D 0.58 0.589 0.456 221 681 226 0.567 134 112 40 23 34 0.322 5892 chr11 56143158 56143158 A G rs11228166 OR8U1, OR8U8 Nonsynonymous SNV H20R 0.58 0.589 0.456 221 681 226 0.567 134 112 40 23 34 0.001 5893 chr1 202183327 202183327 C T rs79821910 LGR6 Synonymous SNV N15N 0.077 0.065 0.075 25 90 25 0.064 22 5 0 0 0 7.745 5894 chr11 35456153 35456153 C T rs35216474 PAMR1 Synonymous SNV K400K 0.105 0.107 0.126 33 123 41 0.085 37 8 3 0 0 14.99 5895 chr1 202304868 202304868 T C rs14451 UBE2T Synonymous SNV S5S 0.565 0.615 0.612 213 663 236 0.546 180 192 74 57 58 5.842 5896 chr11 56143198 56143198 C T rs80034856 OR8U1, OR8U8 Synonymous SNV S33S 0.492 0.49 0.31 193 578 188 0.495 91 0 0 0 0 1.948 5897 chr1 202565948 202565948 G A rs504261 SYT2 Synonymous SNV I399I 0.372 0.346 0.364 132 437 133 0.338 107 79 25 16 20 15 5898 chr11 32852172 32852172 G A rs33962176 PRRG4 Nonsynonymous SNV E33K 0.117 0.146 0.088 65 137 56 0.167 26 11 6 2 9 11.52 5899 chr11 56143204 56143204 C T rs79445223 OR8U1, OR8U8 Synonymous SNV Y35Y 0.495 0.49 0.337 194 581 188 0.497 99 0 0 0 0 0.036 5900 chr1 202705455 202705455 G C rs1141109 KDM5B Synonymous SNV P1005P 0.819 0.779 0.793 313 962 299 0.803 233 391 114 92 124 12.54 5901 chr1 202715284 202715284 G A rs1141108 KDM5B Synonymous SNV Y683Y 0.819 0.779 0.793 313 962 299 0.803 233 391 114 92 124 6.424 5902 chr11 56143207 56143207 C T rs75547926 OR8U1, OR8U8 Synonymous SNV L36L 0.497 0.492 0.34 194 583 189 0.497 100 0 0 0 0 0.623 5903 chr11 32874919 32874919 C A rs34139105 PRRG4 Nonsynonymous SNV P176Q 0.095 0.138 0.078 55 111 53 0.141 23 4 5 2 4 8.421 5904 chr11 36424905 36424905 C G rs80178459 PRR5L Synonymous SNV L74L 0.028 0.01 0.031 6 33 4 0.015 9 0 0 0 0 11.44 5905 chr1 202718202 202718202 G A rs1892164 KDM5B Synonymous SNV H584H 0.807 0.773 0.776 304 948 297 0.779 228 381 112 88 118 10.41 5906 chr11 56143216 56143216 G A rs76044076 OR8U1, OR8U8 Synonymous SNV V39V 0.498 0.495 0.357 195 585 190 0.5 105 0 0 0 0 0.056 5907 chr11 294587 294587 C A rs776909945 PGGHG Synonymous SNV G684G 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 10.73 5908 chr1 202733238 202733238 C T rs3196669 KDM5B Synonymous SNV T204T 0.819 0.781 0.786 313 962 300 0.803 231 392 115 91 124 18.75 5909 chr11 56143225 56143225 C T rs77854836 OR8U1, OR8U8 Synonymous SNV N42N 0.498 0.49 0.35 195 585 188 0.5 103 0 0 0 0 0.572 5910 chr1 203008174 203008174 G C rs61821060 PPFIA4 Nonsynonymous SNV R13P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19.06 5911 chr11 56143226 56143226 T C rs78590139 OR8U1, OR8U8 Synonymous SNV L43L 0.498 0.49 0.35 195 585 188 0.5 103 0 0 0 0 0.002 5912 chr1 203008286 203008286 C G rs10920553 PPFIA4 Synonymous SNV T50T 0.595 0.609 0.599 245 699 234 0.628 176 204 73 53 76 10.91 5913 chr1 201009182 201009182 A G rs12139527 CACNA1S Nonsynonymous SNV L1800S 0.111 0.133 0.082 44 130 51 0.113 24 6 5 0 1 Benign 27.7 5914 chr11 56143250 56143250 G A rs76390346 OR8U1, OR8U8 Nonsynonymous SNV A51T 0.499 0.495 0.35 195 586 190 0.5 103 0 0 0 0 0.001 5915 chr1 203148633 203148633 A G rs4950927 CHI3L1 Synonymous SNV C364C 0.991 0.99 0.997 386 1163 380 0.99 293 576 188 146 191 0.039 5916 chr1 201012597 201012597 G A rs41267497 CACNA1S Synonymous SNV P1620P 0.127 0.112 0.116 57 149 43 0.146 34 8 6 1 2 Benign 5.996 5917 chr11 3659993 3659993 G T rs2271586 ART5 Nonsynonymous SNV T284K 0.171 0.164 0.201 80 201 63 0.205 59 21 5 7 10 0.002 5918 chr1 203152801 203152801 T C rs880633 CHI3L1 Nonsynonymous SNV R145G 0.5 0.542 0.5 234 587 208 0.6 147 140 61 34 71 23.9 5919 chr11 3111866 3111866 C T rs2277301 OSBPL5 Nonsynonymous SNV A706T 0.225 0.19 0.153 83 264 73 0.213 45 40 6 2 10 13.03 5920 chr11 56143252 56143252 G A rs75101573 OR8U1, OR8U8 Synonymous SNV A51A 0.499 0.495 0.35 195 586 190 0.5 103 0 0 0 0 4.282 5921 chr11 4108092 4108092 G A rs118128831 STIM1 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 Uncertain significance 17.7 5922 chr1 201038687 201038687 A G rs7415038 CACNA1S Synonymous SNV F801F 0.388 0.346 0.33 151 455 133 0.387 97 91 25 15 29 Benign 11.81 5923 chr11 56143255 56143255 - GA rs754716745 OR8U1, OR8U8 Frameshift insertion T53Efs*15 0.499 0.495 0.347 195 586 190 0.5 102 0 0 0 0 5924 chr11 56143257 56143257 C A rs77515824 OR8U1, OR8U8 Nonsynonymous SNV T53K 0.499 0.495 0.354 195 586 190 0.5 104 0 0 0 0 11.85 5925 chr1 201047075 201047075 A G rs4915477 CACNA1S Synonymous SNV G517G 0.659 0.685 0.636 268 774 263 0.687 187 260 86 61 92 Benign 5.998 5926 chr1 203194186 203194186 C T rs2297950 CHIT1 Nonsynonymous SNV G102S 0.264 0.281 0.262 130 310 108 0.333 77 44 19 6 19 Benign 31 5927 chr11 3660103 3660103 G T rs2271587 ART5 Synonymous SNV P221P 0.016 0.026 0.037 5 19 10 0.013 11 0 0 0 0 8.869 5928 chr11 3660914 3660914 A G rs2271589 ART5 Nonsynonymous SNV Y249H 0.025 0.026 0.048 6 29 10 0.015 14 0 0 0 0 4.786 5929 chr11 56143260 56143261 GT - rs778684909 OR8U1, OR8U8 S54Tfs*10 0.499 0.495 0.323 195 586 190 0.5 95 0 0 0 0 5930 chr1 203317162 203317162 C T rs7543148 FMOD Synonymous SNV E79E 0.811 0.826 0.793 321 952 317 0.823 233 387 128 93 129 10.51 5931 chr1 201052310 201052310 A T rs12742169 CACNA1S Nonsynonymous SNV L458H 0.325 0.263 0.262 125 382 101 0.321 77 67 13 9 21 Benign 19.42 5932 chr11 56143402 56143402 G A rs77968220 OR8U1, OR8U8 Synonymous SNV L101L 0.486 0.49 0.289 190 571 188 0.487 85 0 0 0 0 0.009 5933 chr11 3141734 3141734 C T rs34183743 OSBPL5 Nonsynonymous SNV E175K 0.021 0.013 0.01 10 25 5 0.026 3 0 0 0 0 22.9 5934 chr11 56143432 56143432 A G rs78396581 OR8U1, OR8U8 Synonymous SNV E111E 0.485 0.482 0.286 189 569 185 0.485 84 0 0 0 0 0.018 5935 chr1 203452409 203452409 G A rs41313926 PRELP Nonsynonymous SNV G33R 0.02 0.008 0 9 23 3 0.023 0 1 0 0 0 0.046 5936 chr11 56143434 56143434 C G rs10791961 OR8U1, OR8U8 Nonsynonymous SNV S112C 0.592 0.583 0.527 234 695 224 0.6 155 115 35 31 40 0.002 5937 chr1 201052312 201052312 A C rs12742170 CACNA1S Synonymous SNV P457P 0.325 0.263 0.262 125 382 101 0.321 77 67 13 9 21 Benign 0.76 5938 chr11 28134974 28134974 C A rs2883478 METTL15 Nonsynonymous SNV N31K 0.315 0.292 0.269 129 370 112 0.331 79 106 31 28 33 0.001 5939 chr1 203452720 203452720 C T rs2233725 PRELP Synonymous SNV N136N 0.02 0.008 0.003 9 24 3 0.023 1 1 0 0 0 8.539 5940 chr11 56143489 56143489 A G rs74711788 OR8U1, OR8U8 Synonymous SNV L130L 0.5 0.497 0.398 193 587 191 0.495 117 0 0 0 0 0.004 5941 chr11 3681051 3681051 C G rs61998205 ART1 Nonsynonymous SNV T101S 0.158 0.128 0.126 55 185 49 0.141 37 10 1 4 6 0.008 5942 chr11 56143490 56143490 T A rs79803210 OR8U1, OR8U8 Nonsynonymous SNV L131M 0.5 0.497 0.405 194 587 191 0.497 119 0 0 0 0 0.038 5943 chr1 203472119 203472119 G A rs72743637 OPTC Synonymous SNV L270L 0.021 0.008 0.003 11 25 3 0.028 1 1 0 0 0 7.977 5944 chr1 203652444 203652444 A G rs1419114 ATP2B4 Synonymous SNV S37S 0.872 0.896 0.908 345 1024 344 0.885 267 453 153 121 153 0.931 5945 chr11 3681115 3681115 A G rs35136756 ART1 Synonymous SNV T122T 0.215 0.195 0.184 74 252 75 0.19 54 24 6 8 8 0.004 5946 chr11 56143501 56143501 T G rs12272237 OR8U1, OR8U8 Synonymous SNV V134V 0.5 0.497 0.429 195 587 191 0.5 126 0 0 0 0 0.005 5947 chr1 203667409 203667409 T C rs2228445 ATP2B4 Synonymous SNV L106L 0.872 0.896 0.912 346 1024 344 0.887 268 453 153 122 154 7.997 5948 chr11 56143508 56143508 A T rs10791962 OR8U1, OR8U8 Nonsynonymous SNV T137S 0.5 0.497 0.442 194 587 191 0.497 130 0 0 0 0 0.02 5949 chr11 43472746 43472746 C T rs11551137 TTC17 Synonymous SNV L987L 0.063 0.06 0.078 25 74 23 0.064 23 2 1 1 0 16.86 5950 chr11 3392839 3392839 A T ZNF195 Nonsynonymous SNV M33K 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 5951 chr1 203766827 203766827 T C rs872032 ZBED6 Synonymous SNV P59P 0.533 0.531 0.452 211 626 204 0.541 133 164 48 33 51 0.008 5952 chr11 56143510 56143510 T C rs10791963 OR8U1, OR8U8 Synonymous SNV T137T 0.5 0.497 0.446 195 587 191 0.5 131 0 0 0 0 0.002 5953 chr11 56143528 56143528 A G rs10791964 OR8U1, OR8U8 Synonymous SNV Q143Q 0.5 0.497 0.469 195 587 191 0.5 138 0 0 0 0 0.006 5954 chr1 203787700 203787700 T C rs4951260 ZC3H11A Synonymous SNV G19G 1 1 0.993 387 1174 384 0.992 292 587 192 145 192 11.52 5955 chr11 34130342 34130342 A G rs11552143 NAT10 Synonymous SNV S54S 0.092 0.117 0.092 29 108 45 0.074 27 10 2 2 2 8.294 5956 chr11 3687626 3687626 T G rs2231547 CHRNA10 Nonsynonymous SNV E149A 0.059 0.068 0.044 19 69 26 0.049 13 3 1 0 1 14.7 5957 chr11 56143534 56143534 A G rs78854227 OR8U1, OR8U8 Synonymous SNV V145V 0.5 0.497 0.473 195 587 191 0.5 139 0 0 0 0 0.018 5958 chr1 204198209 204198209 A G rs3795571 PLEKHA6 Synonymous SNV H869H 0.501 0.513 0.412 215 588 197 0.551 121 139 47 32 59 5.279 5959 chr11 56143537 56143537 A T rs74691432 OR8U1, OR8U8 Synonymous SNV A146A 0.5 0.497 0.473 195 587 191 0.5 139 0 0 0 0 0.002 5960 chr11 3687651 3687651 C T rs2231546 CHRNA10 Nonsynonymous SNV G141S 0.059 0.068 0.044 19 69 26 0.049 13 3 1 0 1 13.26 5961 chr1 204199614 204199614 C T rs10900562 PLEKHA6 Nonsynonymous SNV R837K 0.501 0.51 0.503 216 588 196 0.554 148 140 47 32 59 12.37 5962 chr11 2411734 2411734 C T rs200365372 CD81 Synonymous SNV P53P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.94 5963 chr11 56143539 56143539 T C rs75226392 OR8U1, OR8U8 Nonsynonymous SNV V147A 0.5 0.497 0.473 195 587 191 0.5 139 0 0 0 0 0.001 5964 chr11 43940644 43940644 G T rs1048928 ALKBH3 Synonymous SNV G242G 0.632 0.646 0.622 237 742 248 0.608 183 241 85 53 73 9.488 5965 chr11 34378796 34378796 G A rs750862459 ABTB2 Nonsynonymous SNV A112V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.201 5966 chr11 56143543 56143543 T C rs76579014 OR8U1, OR8U8 Synonymous SNV P148P 0.5 0.497 0.473 195 587 191 0.5 139 0 0 0 0 0.004 5967 chr11 3723781 3723781 G C rs35404087 NUP98 Nonsynonymous SNV Q1095E 0.168 0.151 0.129 58 197 58 0.149 38 12 1 4 6 7.298 5968 chr1 204237416 204237416 C T rs10900571 PLEKHA6 Nonsynonymous SNV V43I 0.665 0.68 0.68 283 781 261 0.726 200 257 89 68 107 14.27 5969 chr11 56143544 56143544 T C rs78532946 OR8U1, OR8U8 Nonsynonymous SNV Y149H 0.5 0.497 0.48 195 587 191 0.5 141 0 0 0 0 18.13 5970 chr11 3733899 3733899 C T rs35803045 NUP98 Synonymous SNV P832P 0.128 0.099 0.095 48 150 38 0.123 28 7 0 1 4 Uncertain significance 15.62 5971 chr11 34668175 34668175 C T rs9804460 EHF Nonsynonymous SNV A96V 0.036 0.034 0.017 10 42 13 0.026 5 0 0 0 0 25.3 5972 chr11 44101118 44101118 C T rs7950395 ACCS Synonymous SNV L291L 0.168 0.174 0.156 69 197 67 0.177 46 23 7 7 7 15.92 5973 chr1 204379617 204379617 T C rs3014626 PPP1R15B Nonsynonymous SNV N308S 0.998 1 0.99 389 1172 384 0.997 291 585 192 144 194 0.023 5974 chr11 56143556 56143556 T A rs80334520 OR8U1, OR8U8 Nonsynonymous SNV F153I 0.5 0.495 0.48 195 587 190 0.5 141 0 0 0 0 0.004 5975 chr11 3752727 3752727 T G rs61751339 NUP98 Synonymous SNV R495R 0.128 0.099 0.099 48 150 38 0.123 29 7 0 1 4 10.88 5976 chr1 201176711 201176711 G T rs12568690 IGFN1 Nonsynonymous SNV G897V 0.105 0.089 0.109 42 123 34 0.108 32 6 2 4 3 23.1 5977 chr1 204401362 204401362 C T rs776940848 PIK3C2B Nonsynonymous SNV R1374H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 28 5978 chr11 56143559 56143559 C T rs74603674 OR8U1, OR8U8 Synonymous SNV L154L 0.5 0.495 0.48 194 587 190 0.497 141 0 0 0 0 2.658 5979 chr11 56143561 56143561 A G rs75242425 OR8U1, OR8U8 Synonymous SNV L154L 0.499 0.495 0.48 195 586 190 0.5 141 0 0 0 0 0.003 5980 chr11 400024 400024 C T rs151201080 PKP3 Nonsynonymous SNV T444M 0.017 0.016 0.007 7 20 6 0.018 2 0 0 0 0 27.6 5981 chr1 204438334 204438334 C T rs1124777 PIK3C2B Synonymous SNV P199P 0.968 0.984 0.966 385 1137 378 0.987 284 551 186 137 190 2.096 5982 chr11 34910397 34910397 C T rs1977420 APIP Nonsynonymous SNV C76Y 0.296 0.279 0.088 135 347 107 0.346 26 77 19 5 25 23.1 5983 chr11 56143562 56143562 A G rs80111030 OR8U1, OR8U8 Nonsynonymous SNV M155V 0.5 0.495 0.48 195 587 190 0.5 141 0 0 0 0 0.001 5984 chr11 44331309 44331309 G A rs12421995 ALX4 Nonsynonymous SNV P102S 0.391 0.391 0.408 174 459 150 0.446 120 94 33 28 34 Benign 5.205 5985 chr1 204438643 204438643 G T rs1553921 PIK3C2B Synonymous SNV L96L 0.968 0.982 0.966 385 1137 377 0.987 284 551 185 137 190 3.976 5986 chr11 2993353 2993353 T C rs2411767 NAP1L4 Synonymous SNV L98L 0.108 0.091 0.024 27 127 35 0.069 7 3 2 0 1 9.983 5987 chr11 56143564 56143564 G T rs77640279 OR8U1, OR8U8 Nonsynonymous SNV M155I 0.498 0.497 0.48 195 585 191 0.5 141 0 0 0 0 0.001 5988 chr1 204499880 204499880 A T rs61749329 MDM4 Synonymous SNV V74V 0.012 0.021 0.003 5 14 8 0.013 1 0 0 0 0 Benign 2.168 5989 chr11 44331509 44331509 C G rs3824915 ALX4 Nonsynonymous SNV R35T 0.433 0.435 0.473 189 508 167 0.485 139 109 38 32 41 Benign 28.5 5990 chr1 204588926 204588926 C T rs35463653 LRRN2 Synonymous SNV P65P 0.013 0.026 0.003 5 15 10 0.013 1 0 1 0 0 0.058 5991 chr11 56143570 56143570 A G rs11228169 OR8U1, OR8U8 Synonymous SNV L157L 0.5 0.497 0.486 195 587 191 0.5 143 0 0 0 0 0.078 5992 chr1 201180145 201180145 G A rs12022767 IGFN1 Nonsynonymous SNV E2042K 0.173 0.208 0.099 79 203 80 0.203 29 0 0 0 0 9.766 5993 chr1 204943947 204943947 C A rs2246662 NFASC Synonymous SNV V529V 0.392 0.378 0.34 129 460 145 0.331 100 93 28 18 17 14.54 5994 chr11 56143592 56143592 C T rs17150411 OR8U1, OR8U8 Nonsynonymous SNV R165C 0.336 0.352 0.313 135 394 135 0.346 92 0 0 0 0 14.5 5995 chr1 204966428 204966428 C G rs2802808 NFASC Nonsynonymous SNV I971M 0.209 0.193 0.224 83 245 74 0.213 66 30 8 3 14 15.4 5996 chr1 201180148 201180148 A G rs145517342 IGFN1 Nonsynonymous SNV R2043G 0.173 0.208 0.102 79 203 80 0.203 30 0 0 0 0 3.657 5997 chr11 56143690 56143690 C A rs4990123 OR8U1, OR8U8 Synonymous SNV L197L 0.5 0.497 0.429 194 587 191 0.497 126 0 0 0 0 5.023 5998 chr11 56143696 56143696 C T rs4990122 OR8U1, OR8U8 Synonymous SNV I199I 0.5 0.497 0.432 195 587 191 0.5 127 0 0 0 0 3.745 5999 chr11 26700310 26700310 C G rs12278761 SLC5A12 Nonsynonymous SNV V510L 0.018 0.029 0.017 8 21 11 0.021 5 0 1 0 0 20.9 6000 chr1 201180153 201180153 A G rs12029808 IGFN1 Nonsynonymous SNV I2044M 0.173 0.208 0.102 78 203 80 0.2 30 0 0 0 0 0.006 6001 chr1 204970302 204970302 T C rs4951151 NFASC Synonymous SNV P1008P 0.279 0.292 0.279 105 328 112 0.269 82 47 15 10 14 1.79 6002 chr11 56143699 56143699 T G rs4990121 OR8U1, OR8U8 Nonsynonymous SNV F200L 0.5 0.497 0.422 195 587 191 0.5 124 0 0 0 0 0.001 6003 chr11 33722084 33722084 G T rs149234067 C11orf91 Nonsynonymous SNV A68E 0.196 0.224 0.112 80 230 86 0.205 33 63 26 10 23 9.716 6004 chr1 201180162 201180162 A C rs12029809 IGFN1 Synonymous SNV G2047G 0.173 0.208 0.099 78 203 80 0.2 29 0 0 0 0 0.004 6005 chr1 205031116 205031116 C T rs2229866 CNTN2 Nonsynonymous SNV P366L 0.346 0.339 0.354 129 406 130 0.331 104 74 19 19 18 Benign 23.6 6006 chr11 56143716 56143716 T C rs10896309 OR8U1, OR8U8 Nonsynonymous SNV M206T 0.499 0.495 0.388 193 586 190 0.495 114 0 0 0 0 0.001 6007 chr1 201180172 201180172 G A rs12022770 IGFN1 Nonsynonymous SNV G2051S 0.172 0.206 0.088 77 202 79 0.197 26 0 0 0 0 17.44 6008 chr1 205033518 205033518 C G rs79431021 CNTN2 Nonsynonymous SNV L437V 0.022 0.034 0.024 7 26 13 0.018 7 0 1 0 1 Benign 0.001 6009 chr11 4566711 4566711 C T rs2709182 OR52M1 Synonymous SNV D97D 0.579 0.539 0.565 212 680 207 0.544 166 201 54 53 52 9.533 6010 chr1 201180193 201180193 A G rs59199921 IGFN1 Nonsynonymous SNV S2058G 0.165 0.198 0.071 74 194 76 0.19 21 0 0 0 0 0.172 6011 chr11 56143717 56143717 G A rs10896310 OR8U1, OR8U8 Nonsynonymous SNV M206I 0.499 0.495 0.381 193 586 190 0.495 112 0 0 0 0 0.002 6012 chr1 205041158 205041158 C T rs2229868 CNTN2 Synonymous SNV S876S 0.28 0.206 0.224 73 329 79 0.187 66 47 9 6 7 17.78 6013 chr1 201180200 201180200 T G rs12026461 IGFN1 Nonsynonymous SNV V2060G 0.135 0.156 0.054 59 158 60 0.151 16 0 0 0 0 0.006 6014 chr11 56143723 56143723 T C rs12272349 OR8U1, OR8U8 Synonymous SNV I208I 0.5 0.495 0.357 194 587 190 0.497 105 0 0 0 0 0.002 6015 chr11 4567335 4567335 C G rs2657167 OR52M1 Nonsynonymous SNV S305R 0.459 0.451 0.503 159 539 173 0.408 148 119 37 43 36 0.002 6016 chr1 205052939 205052939 G A rs4950979 TMEM81 Synonymous SNV L170L 0.815 0.758 0.806 312 957 291 0.8 237 392 116 94 125 11.86 6017 chr11 56143725 56143725 C G rs77042014 OR8U1, OR8U8 Nonsynonymous SNV S209C 0.5 0.495 0.35 195 587 190 0.5 103 0 0 0 0 0.002 6018 chr1 201180269 201180269 G A rs61818163 IGFN1 Nonsynonymous SNV G2083E 0.101 0.078 0.105 38 118 30 0.097 31 5 2 3 2 13.86 6019 chr1 205053219 205053219 C T rs4951168 TMEM81 Nonsynonymous SNV R77Q 0.83 0.786 0.833 318 975 302 0.815 245 405 123 102 129 20.2 6020 chr11 31838128 31838128 G A rs4440995 PAX6-AS1 0.105 0.086 0.163 37 123 33 0.095 48 6 1 3 3 11.79 6021 chr11 33886294 33886294 A G rs2038602 LMO2 Synonymous SNV I37I 0.371 0.357 0.354 164 435 137 0.421 104 89 29 19 32 3.874 6022 chr11 45832509 45832509 A G rs7130656 SLC35C1 Nonsynonymous SNV I240V 0.083 0.089 0.088 29 98 34 0.074 26 3 1 2 0 Benign/Likely benign 0.005 6023 chr11 56143729 56143729 C T rs55888197 OR8U1, OR8U8 Synonymous SNV S210S 0.499 0.497 0.333 195 586 191 0.5 98 0 0 0 0 3.236 6024 chr11 35302467 35302467 G A rs16927239 SLC1A2 Synonymous SNV A456A 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 Benign 13.83 6025 chr1 205130413 205130413 A G rs3851294 DSTYK Nonsynonymous SNV C641R 0.871 0.846 0.881 337 1022 325 0.864 259 446 139 114 145 Benign 18.8 6026 chr11 56143730 56143730 C G rs55860603 OR8U1, OR8U8 Nonsynonymous SNV L211V 0.499 0.495 0.327 195 586 190 0.5 96 0 0 0 0 0.001 6027 chr11 45926569 45926569 C T rs374493027 MAPK8IP1 Synonymous SNV C647C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.2 6028 chr11 3239878 3239878 C G rs138911263 MRGPRG Nonsynonymous SNV A56P 0.034 0.036 0.003 12 40 14 0.031 1 2 0 0 0 23.5 6029 chr1 205180474 205180474 G A rs78212113 DSTYK Nonsynonymous SNV L64F 0.031 0.029 0.024 9 36 11 0.023 7 0 1 0 0 15.67 6030 chr11 56143977 56143977 A G rs12272403 OR8U1 Nonsynonymous SNV Q293R 0.467 0.427 0.367 182 548 164 0.467 108 80 21 21 23 0.016 6031 chr1 201190732 201190732 G A rs3738269 IGFN1 Synonymous SNV V3353V 0.22 0.206 0.235 91 258 79 0.233 69 31 11 10 9 1.713 6032 chr11 34219040 34219040 G A rs775443170 ABTB2 Nonsynonymous SNV P359L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 6033 chr1 205197808 205197808 C T rs112979653 TMCC2 Nonsynonymous SNV T39M 0.031 0.029 0.024 9 36 11 0.023 7 0 1 0 0 22.6 6034 chr11 56184888 56184888 G A rs998544 OR5R1 Nonsynonymous SNV A274V 0.432 0.456 0.408 168 507 175 0.431 120 112 40 23 33 17.95 6035 chr1 205273142 205273142 G C rs41264881 NUAK2 Synonymous SNV P441P 0.17 0.219 0.146 77 200 84 0.197 43 16 14 3 6 0.166 6036 chr11 56185345 56185345 A G rs6591324 OR5R1 Nonsynonymous SNV C122R 0.805 0.797 0.796 310 945 306 0.795 234 377 119 93 119 1.794 6037 chr11 4608061 4608061 C T rs200571706 OR52I2 Nonsynonymous SNV R7W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.91 6038 chr1 205275421 205275421 A G rs4951197 NUAK2 Synonymous SNV G195G 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 7.766 6039 chr1 201286771 201286771 C T rs1722779 PKP1 Synonymous SNV A306A 0.223 0.214 0.184 101 262 82 0.259 54 30 9 6 14 Benign 15.01 6040 chr11 56185347 56185347 T C rs7111634 OR5R1 Nonsynonymous SNV D121G 0.084 0.068 0.061 24 99 26 0.062 18 1 1 0 0 27.6 6041 chr11 43515377 43515377 G A rs28709458 TTC17 Nonsynonymous SNV E1117K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.9 6042 chr1 201288955 201288955 G A rs1626370 PKP1 Nonsynonymous SNV G415D 0.221 0.214 0.184 101 259 82 0.259 54 29 9 6 14 13.37 6043 chr1 205308335 205308335 G A rs1105385 KLHDC8A Synonymous SNV F248F 0.315 0.315 0.344 104 370 121 0.267 101 60 18 17 14 10.78 6044 chr1 205308368 205308368 C T rs1105387 KLHDC8A Synonymous SNV R237R 0.301 0.297 0.337 102 353 114 0.262 99 55 16 16 14 14.26 6045 chr11 56185401 56185401 C T rs7123108 OR5R1 Nonsynonymous SNV C103Y 0.084 0.068 0.061 24 99 26 0.062 18 1 1 0 0 24.2 6046 chr1 205492756 205492756 A G rs7529442 CDK18 Synonymous SNV V92V 0.955 0.956 0.932 367 1121 367 0.941 274 536 176 127 174 11.94 6047 chr1 201288982 201288982 C A rs41269939 PKP1 Nonsynonymous SNV P424Q 0.016 0.042 0.007 10 19 16 0.026 2 0 0 0 0 4.96 6048 chr1 205554085 205554085 G C rs7526132 MFSD4A Nonsynonymous SNV G314A 0.454 0.49 0.422 170 533 188 0.436 124 118 44 25 30 6.248 6049 chr11 56230069 56230069 T C rs1945237 OR5M9 Nonsynonymous SNV K270R 0.088 0.068 0.065 23 103 26 0.059 19 1 1 0 0 23.4 6050 chr1 205554095 205554095 A C rs7515820 MFSD4A Synonymous SNV V317V 0.445 0.484 0.418 169 523 186 0.433 123 115 43 24 30 2.981 6051 chr11 56230120 56230120 G A rs61902868 OR5M9 Nonsynonymous SNV P253L 0.088 0.068 0.068 23 103 26 0.059 20 1 1 0 0 0.013 6052 chr1 205767885 205767885 G A rs708727 SLC41A1 Synonymous SNV N252N 0.356 0.401 0.388 144 418 154 0.369 114 70 30 26 24 12.76 6053 chr1 201355522 201355522 T C rs4128458 LAD1 Nonsynonymous SNV K323E 0.472 0.469 0.418 178 554 180 0.456 123 157 50 33 35 0.025 6054 chr11 56230328 56230328 G T rs61902869 OR5M9 Nonsynonymous SNV Q184K 0.087 0.068 0.068 23 102 26 0.059 20 1 1 0 0 6.63 6055 chr1 205779231 205779231 G A rs11240569 SLC41A1 Synonymous SNV T113T 0.313 0.263 0.337 130 368 101 0.333 99 66 15 17 22 10.15 6056 chr1 201355943 201355943 C T rs2799677 LAD1 Synonymous SNV K182K 0.486 0.474 0.463 182 571 182 0.467 136 151 48 34 34 11.66 6057 chr1 205801872 205801872 A G rs1361754 PM20D1 Nonsynonymous SNV I380T 0.475 0.518 0.469 184 558 199 0.472 138 131 49 35 43 0.011 6058 chr11 56230473 56230473 A G rs61902870 OR5M9 Synonymous SNV S135S 0.087 0.068 0.068 23 102 26 0.059 20 1 1 0 0 1.844 6059 chr11 56230611 56230611 G T rs79837116 OR5M9 Synonymous SNV T89T 0.087 0.068 0.065 23 102 26 0.059 19 1 1 0 0 0.043 6060 chr1 205812912 205812912 A G rs7518979 PM20D1 Nonsynonymous SNV I237T 0.164 0.141 0.163 75 192 54 0.192 48 18 2 3 5 23.4 6061 chr11 56230678 56230678 G A rs61902871 OR5M9 Nonsynonymous SNV A67V 0.089 0.068 0.068 24 105 26 0.062 20 1 1 0 0 2.708 6062 chr11 4674574 4674574 C T rs139516303 OR51E1 Nonsynonymous SNV P273L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.287 6063 chr1 205814497 205814497 T C rs1891460 PM20D1 Nonsynonymous SNV I149V 0.936 0.932 0.929 361 1099 358 0.926 273 514 168 128 166 1.013 6064 chr11 56237966 56237966 T C rs77400854 OR5M3 Nonsynonymous SNV N3S 0.087 0.068 0.065 24 102 26 0.062 19 1 1 0 0 24.1 6065 chr11 4411241 4411241 C T rs926101 TRIM21 Synonymous SNV Q133Q 0.129 0.122 0.112 49 151 47 0.126 33 8 4 2 4 12.78 6066 chr1 205819039 205819039 C T rs11540016 PM20D1 Synonymous SNV A54A 0.098 0.099 0.099 42 115 38 0.108 29 5 0 1 2 21.6 6067 chr11 5625847 5625847 A G rs3751006 TRIM6, TRIM6-TRIM34 Synonymous SNV K197K 0.619 0.635 0.663 247 727 244 0.633 195 248 88 68 77 0.074 6068 chr1 205819104 205819104 G A rs11540014 PM20D1 Nonsynonymous SNV H33Y 0.098 0.099 0.099 42 115 38 0.108 29 5 0 1 2 0.002 6069 chr11 56309896 56309896 C G rs17547207 OR5M11 Nonsynonymous SNV V280L 0.089 0.068 0.058 26 105 26 0.067 17 1 1 0 0 8.542 6070 chr11 56310222 56310222 C T rs628524 OR5M11 Nonsynonymous SNV S171N 0.794 0.781 0.735 319 932 300 0.818 216 369 118 81 129 5.674 6071 chr1 205884062 205884062 T C rs9438438 SLC26A9 Synonymous SNV P874P 0.098 0.099 0.102 33 115 38 0.085 30 6 0 1 1 Benign 0.014 6072 chr11 46893108 46893108 T C rs2306029 LRP4 Nonsynonymous SNV S1554G 0.549 0.539 0.52 185 644 207 0.474 153 181 60 46 42 Benign 21.7 6073 chr1 205884274 205884274 T C rs6669481 SLC26A9 Nonsynonymous SNV R804G 0.108 0.112 0.153 31 127 43 0.079 45 6 3 1 0 Benign 0.463 6074 chr11 56310356 56310356 A T rs17547284 OR5M11 Stop gain Y126X 0.089 0.068 0.061 25 105 26 0.064 18 1 1 0 0 29.2 6075 chr1 206239403 206239403 C T rs28602496 RHEX Synonymous SNV A165A 0.077 0.078 0.071 39 90 30 0.1 21 1 2 3 2 12.04 6076 chr11 5632212 5632212 G A rs10769124 TRIM6 Synonymous SNV L194L 0.7 0.714 0.731 287 822 274 0.736 215 284 99 80 108 9.299 6077 chr11 31811461 31811461 T - rs780753075 PAX6 K244Rfs*29 0.226 0.221 0.136 79 265 85 0.203 40 51 17 6 15 6078 chr11 56344844 56344851 CATTGAAG - rs148438199 OR5M10 A116Gfs*37 0.088 0.068 0.061 23 103 26 0.059 18 1 1 0 0 6079 chr1 206239415 206239415 C T rs28639473 RHEX Synonymous SNV L161L 0.076 0.078 0.068 39 89 30 0.1 20 1 2 3 2 6.86 6080 chr11 56344993 56344993 C A rs10792043 OR5M10 Nonsynonymous SNV V69L 0.707 0.719 0.673 293 830 276 0.751 198 299 101 65 108 23.6 6081 chr1 206239574 206239574 T C rs28391411 RHEX Synonymous SNV T108T 0.079 0.081 0.075 39 93 31 0.1 22 1 2 3 2 0.016 6082 chr1 206647742 206647742 A G rs1539242 IKBKE Synonymous SNV Q52Q 0.998 0.997 0.99 387 1172 383 0.992 291 585 191 144 192 4.379 6083 chr11 56380971 56380971 G A rs151301846 OR5M1 Nonsynonymous SNV S3F 0.048 0.036 0.034 9 56 14 0.023 10 0 1 0 0 22.7 6084 chr1 206647787 206647787 T C rs1539243 IKBKE Synonymous SNV I67I 0.819 0.794 0.816 306 962 305 0.785 240 392 119 96 121 1.271 6085 chr11 32417945 32417945 T C rs16754 WT1 Synonymous SNV R357R 0.118 0.115 0.122 61 138 44 0.156 36 7 4 1 6 Benign 2.492 6086 chr1 206648147 206648147 T G rs1953090 MIR6769B 0.172 0.185 0.136 80 202 71 0.205 40 21 10 0 10 7.112 6087 chr11 56431216 56431216 C T rs11228710 OR5AR1 Stop gain Q19X 0.755 0.755 0.673 295 886 290 0.756 198 326 106 69 110 35 6088 chr11 44940828 44940828 G A rs2291334 TSPAN18 Nonsynonymous SNV V133I 0.232 0.253 0.269 103 272 97 0.264 79 31 11 9 13 13.93 6089 chr1 202276494 202276494 C T rs896551 LGR6 Synonymous SNV P276P 0.463 0.495 0.384 173 543 190 0.444 113 132 45 23 38 18.89 6090 chr11 56467881 56467881 T C rs73474900 OR9G1, OR9G9 Synonymous SNV H6H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.053 6091 chr1 206651107 206651107 G A rs2297545 IKBKE Synonymous SNV T154T 0.278 0.247 0.224 120 326 95 0.308 66 50 8 6 17 5.092 6092 chr1 202287206 202287206 T C rs788795 LGR6 Nonsynonymous SNV V453A 0.627 0.69 0.588 221 736 265 0.567 173 229 89 52 67 0.001 6093 chr11 56467926 56467926 A G rs1704284 OR9G1, OR9G9 Synonymous SNV G21G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.059 6094 chr1 206680983 206680983 A C rs2095124 RASSF5 Synonymous SNV L16L 0.807 0.815 0.847 333 947 313 0.854 249 393 126 107 144 0.281 6095 chr11 4510285 4510285 A G rs96489 OR52K1 Nonsynonymous SNV Q52R 0.324 0.341 0.364 127 380 131 0.326 107 57 22 22 23 0.001 6096 chr11 56467945 56467945 G T rs36184181 OR9G1, OR9G9 Nonsynonymous SNV V28L 0.428 0.445 0.354 163 502 171 0.418 104 0 0 0 0 0.037 6097 chr1 206711610 206711610 G A rs79017047 RASSF5 Synonymous SNV V189V 0.047 0.036 0.041 16 55 14 0.041 12 3 1 0 0 2.458 6098 chr11 34154645 34154645 C T rs61735311 NAT10 Nonsynonymous SNV P492S 0.036 0.047 0.031 22 42 18 0.056 9 2 0 0 1 22.5 6099 chr1 202287537 202287537 G A rs788794 LGR6 Synonymous SNV A563A 0.467 0.487 0.388 174 548 187 0.446 114 135 42 22 38 0.751 6100 chr1 206773659 206773659 A G rs6662929 EIF2D Synonymous SNV P178P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.917 6101 chr11 56468020 56468020 T C rs532637 OR9G1, OR9G9 Nonsynonymous SNV C53R 0.553 0.552 0.565 213 649 212 0.546 166 62 20 19 18 0.001 6102 chr1 202287813 202287813 T C rs788793 LGR6 Synonymous SNV F655F 0.628 0.682 0.588 221 737 262 0.567 173 230 87 52 67 0.055 6103 chr11 4510587 4510587 C T rs331510 OR52K1 Nonsynonymous SNV R153W 0.252 0.25 0.279 91 296 96 0.233 82 36 9 19 10 20.6 6104 chr11 43964569 43964569 C T rs2434483 C11orf96 Nonsynonymous SNV P39S 0.05 0.063 0.041 19 59 24 0.049 12 3 2 0 0 4.883 6105 chr1 206905043 206905043 C T rs4073250 MAPKAPK2 Synonymous SNV T317T 0.188 0.201 0.167 66 221 77 0.169 49 21 8 2 4 15.17 6106 chr11 56468021 56468021 G A rs532635 OR9G1, OR9G9 Nonsynonymous SNV C53Y 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.011 6107 chr11 47306630 47306630 C T rs35233100 MADD Stop gain R766X 0.075 0.099 0.058 32 88 38 0.082 17 3 1 0 1 38 6108 chr1 207015957 207015957 T C rs2243191 IL19 Nonsynonymous SNV F175S 0.771 0.794 0.81 291 905 305 0.746 238 358 121 97 114 9.513 6109 chr1 202569600 202569600 C T rs115267501 SYT2 Synonymous SNV P268P 0.062 0.083 0.065 26 73 32 0.067 19 1 2 1 1 14.99 6110 chr11 56468044 56468044 T G rs3975155 OR9G1, OR9G9 Nonsynonymous SNV F61V 0.718 0.737 0.677 288 843 283 0.738 199 256 91 52 94 17.82 6111 chr11 379932 379932 G A rs142417965 B4GALNT4 Nonsynonymous SNV G852E 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 22.8 6112 chr1 207074905 207074905 T C rs1150258 IL24 Nonsynonymous SNV Y125H 0.532 0.505 0.531 192 625 194 0.492 156 164 53 45 42 23.9 6113 chr11 56468047 56468047 A G rs2865519 OR9G1, OR9G9 Nonsynonymous SNV T62A 0.718 0.737 0.677 288 843 283 0.738 199 256 91 52 94 12.91 6114 chr11 290441 290441 T C rs950791533 PGGHG Nonsynonymous SNV I104T 0.005 0 0 0 6 0 0 0 0 0 0 0 14.27 6115 chr1 207076321 207076321 T G rs150080259 IL24 Nonsynonymous SNV S61R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 22.6 6116 chr11 56468048 56468048 C T rs2865520 OR9G1, OR9G9 Nonsynonymous SNV T62I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.695 6117 chr11 47434986 47434986 G A rs2293576 SLC39A13 Synonymous SNV A191A 0.375 0.383 0.303 160 440 147 0.41 89 88 28 13 34 Benign 10.23 6118 chr1 207087435 207087435 C T rs167082 FCMR Synonymous SNV S14S 0.52 0.497 0.531 195 610 191 0.5 156 158 51 44 44 12.39 6119 chr11 56468111 56468111 C T rs602224 OR9G1, OR9G9 Nonsynonymous SNV T83I 0.497 0.497 0.473 194 584 191 0.497 139 0 0 0 0 0.434 6120 chr1 207106444 207106444 A G rs172361 PIGR Synonymous SNV F591F 0.025 0.023 0.048 3 29 9 0.008 14 0 0 0 0 0.079 6121 chr11 22399109 22399109 C A rs143304174 SLC17A6 Synonymous SNV L524L 0.019 0.016 0.007 5 22 6 0.013 2 0 0 0 0 Benign 11.45 6122 chr1 207106478 207106478 G A rs291102 PIGR Nonsynonymous SNV A580V 0.025 0.023 0.051 3 29 9 0.008 15 0 0 1 0 Uncertain significance 2.231 6123 chr11 22646398 22646398 G A rs45451294 FANCF Nonsynonymous SNV P320L 0.017 0.021 0.014 6 20 8 0.015 4 0 0 0 0 Benign 22.4 6124 chr11 56468198 56468198 A G rs4990194 OR9G1, OR9G9 Nonsynonymous SNV Y112C 0.502 0.503 0.497 195 589 193 0.5 146 2 1 0 0 23.5 6125 chr1 203098275 203098275 T G rs2228079 ADORA1 Synonymous SNV A102A 0.334 0.268 0.31 119 392 103 0.305 91 67 16 16 16 1.809 6126 chr1 207109116 207109116 C T rs2275531 PIGR Nonsynonymous SNV G365S 0.531 0.521 0.537 199 623 200 0.51 158 166 55 44 50 23.6 6127 chr1 203140671 203140671 G A rs3737875 MYBPH Synonymous SNV N211N 0.096 0.086 0.044 20 113 33 0.051 13 5 2 0 0 10.13 6128 chr11 47712213 47712213 C T rs7941404 AGBL2 Nonsynonymous SNV R349H 0.132 0.154 0.126 58 155 59 0.149 37 10 1 1 6 0.116 6129 chr11 56468200 56468200 C T rs4990195 OR9G1, OR9G9 Synonymous SNV L113L 0.502 0.503 0.497 195 589 193 0.5 146 2 1 0 0 0.232 6130 chr1 207110936 207110936 T C rs291096 PIGR Synonymous SNV V183V 0.526 0.521 0.582 193 618 200 0.495 171 166 55 50 47 0.183 6131 chr1 203144833 203144833 G A rs12145010 MYBPH Synonymous SNV T17T 0.047 0.042 0.01 6 55 16 0.015 3 0 0 0 0 10.3 6132 chr11 56468202 56468202 G A rs4990196 OR9G1, OR9G9 Synonymous SNV L113L 0.502 0.503 0.497 195 589 193 0.5 146 2 1 0 0 0.625 6133 chr1 207195779 207195779 A G rs2842726 C1orf116 Nonsynonymous SNV S198P 0.988 0.992 0.983 381 1160 381 0.977 289 573 189 142 186 0.002 6134 chr11 47788664 47788669 GGTGGT - rs397711020 FNBP4 T58_T59del 0.353 0.339 0.177 159 414 130 0.408 52 145 41 17 51 6135 chr11 56468212 56468212 G A rs591369 OR9G1, OR9G9 Nonsynonymous SNV V117M 0.502 0.503 0.497 195 589 193 0.5 146 2 1 0 0 5.115 6136 chr1 207297680 207297680 T C rs1126618 C4BPA Synonymous SNV G225G 0.796 0.786 0.796 309 934 302 0.792 234 374 121 92 123 Benign 0.107 6137 chr11 56468259 56468259 C T rs503776 OR9G1, OR9G9 Synonymous SNV A132A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 7.804 6138 chr11 56468368 56468368 C T rs11228733 OR9G1, OR9G9 Nonsynonymous SNV R169C 0.488 0.49 0.452 192 573 188 0.492 133 0 0 0 0 22.9 6139 chr1 207304900 207304900 T C rs4844573 C4BPA Nonsynonymous SNV I300T 0.325 0.333 0.347 126 382 128 0.323 102 65 24 18 21 Benign 0.001 6140 chr11 46329433 46329433 G A rs760202144 CREB3L1 Nonsynonymous SNV S133N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.4 6141 chr11 4790268 4790268 C A rs1030726 OR51F1 Nonsynonymous SNV D301Y 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 15.02 6142 chr11 56468403 56468403 G A rs11228734 OR9G1, OR9G9 Synonymous SNV L180L 0.497 0.5 0.466 193 583 192 0.495 137 0 0 0 0 5.361 6143 chr1 207646322 207646322 G A rs1048971 CR2 Synonymous SNV L592L 0.326 0.367 0.405 129 383 141 0.331 119 64 24 21 25 Benign 1.517 6144 chr11 56468416 56468416 G A rs11228735 OR9G1, OR9G9 Nonsynonymous SNV E185K 0.497 0.5 0.463 193 583 192 0.495 136 0 0 0 0 1.43 6145 chr1 207646462 207646462 G A rs17615 CR2 Nonsynonymous SNV S639N 0.292 0.331 0.316 114 343 127 0.292 93 49 18 12 19 Benign 24.4 6146 chr11 4790308 4790308 A G rs1030725 OR51F1 Synonymous SNV N287N 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 0.064 6147 chr11 56468448 56468448 A G rs80194264 OR9G1, OR9G9 Synonymous SNV K195K 0.497 0.5 0.459 193 584 192 0.495 135 0 0 0 0 0.002 6148 chr11 4790410 4790410 A G rs1030724 OR51F1 Synonymous SNV H253H 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 0.162 6149 chr1 207646898 207646898 T C rs4308977 CR2 Nonsynonymous SNV S663P 0.291 0.328 0.316 115 342 126 0.295 93 49 16 12 20 Benign 8.401 6150 chr11 56468449 56468449 A T rs78119083 OR9G1, OR9G9 Nonsynonymous SNV I196F 0.497 0.5 0.459 193 584 192 0.495 135 0 0 0 0 0.001 6151 chr11 4790471 4790471 G A rs1030723 OR51F1 Nonsynonymous SNV S233F 0.195 0.227 0.167 57 229 87 0.146 49 12 6 4 3 24.7 6152 chr1 203768328 203768328 T C rs7552670 ZBED6 Nonsynonymous SNV F560L 0.108 0.083 0.092 51 127 32 0.131 27 9 1 1 4 15.3 6153 chr1 207646923 207646923 G A rs17616 CR2 Nonsynonymous SNV R671H 0.291 0.326 0.316 114 342 125 0.292 93 49 16 12 19 Benign 20.1 6154 chr11 45245778 45245778 G T rs35090414 PRDM11 Nonsynonymous SNV R251S 0.071 0.029 0.068 45 83 11 0.115 20 3 1 0 2 18.18 6155 chr11 56468452 56468452 A C rs79970235 OR9G1, OR9G9 Nonsynonymous SNV M197L 0.497 0.5 0.459 193 584 192 0.495 135 0 0 0 0 0.001 6156 chr11 4790474 4790474 T C rs11033793 OR51F1 Nonsynonymous SNV H232R 0.195 0.227 0.167 57 229 87 0.146 49 12 6 4 3 0.001 6157 chr1 203769532 203769532 G A rs7540041 ZBED6 Nonsynonymous SNV S961N 0.108 0.083 0.092 51 127 32 0.131 27 9 1 1 4 22.3 6158 chr11 56468493 56468493 A G rs10792053 OR9G1, OR9G9 Synonymous SNV A210A 0.482 0.492 0.415 190 566 189 0.487 122 0 2 1 0 0.005 6159 chr11 4790671 4790671 C T rs11033795 OR51F1 Synonymous SNV L166L 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 0.698 6160 chr1 207648173 207648173 T C rs61735651 CR2 Synonymous SNV I717I 0.071 0.076 0.065 28 83 29 0.072 19 3 1 1 0 Benign 8.937 6161 chr11 56468554 56468554 A C rs12420076 OR9G1, OR9G9 Nonsynonymous SNV K231Q 0.497 0.505 0.473 193 584 194 0.495 139 0 2 1 0 0.015 6162 chr1 207648456 207648456 G T rs144572703 CR2 Nonsynonymous SNV V812L 0.01 0.013 0.003 4 12 5 0.01 1 0 0 0 0 Likely benign 8.28 6163 chr11 4790758 4790758 G A rs11033796 OR51F1 Synonymous SNV D137D 0.358 0.388 0.316 127 420 149 0.326 93 61 29 13 24 0.114 6164 chr1 204120952 204120952 G T rs3737655 ETNK2 Nonsynonymous SNV P10Q 0.169 0.154 0.204 61 198 59 0.156 60 14 7 5 4 19.42 6165 chr11 4790857 4790857 A G rs11033797 OR51F1 Synonymous SNV Y104Y 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 0.072 6166 chr11 43702530 43702530 A G rs56168061 HSD17B12 Synonymous SNV E51E 0.241 0.188 0.235 84 283 72 0.215 69 41 7 10 7 4.801 6167 chr11 56468560 56468560 T C rs10896516 OR9G1, OR9G9 Nonsynonymous SNV Y233H 0.497 0.505 0.476 193 584 194 0.495 140 0 2 1 0 1.997 6168 chr1 207653395 207653395 C A rs17617 CR2 Nonsynonymous SNV A1003E 0.842 0.839 0.833 321 989 322 0.823 245 417 136 105 131 Benign 7.834 6169 chr11 4790874 4790874 G - rs34672924 OR51F1 R99Vfs*41 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 6170 chr1 204131186 204131186 T G rs5705 REN Synonymous SNV T68T 0.152 0.151 0.187 58 179 58 0.149 55 10 5 4 2 Benign 1.101 6171 chr11 4790881 4790881 A G rs111736749 OR51F1 Synonymous SNV F96F 0.193 0.221 0.163 57 226 85 0.146 48 12 6 4 3 0.105 6172 chr11 56468561 56468561 A G rs10896517 OR9G1, OR9G9 Nonsynonymous SNV Y233C 0.497 0.505 0.476 193 584 194 0.495 140 0 2 1 0 8.233 6173 chr11 4790948 4790948 C A rs11033800 OR51F1 Nonsynonymous SNV R74M 0.356 0.385 0.316 127 418 148 0.326 93 61 29 13 24 1.363 6174 chr1 207782916 207782916 A T rs4844609 CR1 Nonsynonymous SNV T1610S 0.991 0.997 0.99 387 1164 383 0.992 291 577 191 144 192 0.007 6175 chr11 56468637 56468637 C T rs76884192 OR9G1, OR9G9 Synonymous SNV Y258Y 0.497 0.497 0.463 193 584 191 0.495 136 0 0 0 0 1.898 6176 chr11 4790951 4790951 A G rs11033801 OR51F1 Nonsynonymous SNV F73S 0.353 0.385 0.316 126 414 148 0.323 93 61 29 13 23 6.505 6177 chr1 207782931 207782931 A G rs6691117 CR1 Nonsynonymous SNV I1615V 0.303 0.281 0.303 143 356 108 0.367 89 55 14 18 27 0.002 6178 chr11 56468646 56468646 C T rs78493274 OR9G1, OR9G9 Synonymous SNV P261P 0.497 0.5 0.463 193 584 192 0.495 136 0 0 0 0 1.645 6179 chr1 204242838 204242838 A C rs33911350 PLEKHA6 Synonymous SNV G6G 0.135 0.148 0.143 60 159 57 0.154 42 11 4 6 4 10.16 6180 chr11 3697575 3697575 G A rs118023591 NUP98 Synonymous SNV R1692R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.16 6181 chr11 56468694 56468694 C T rs79060400 OR9G1, OR9G9 Synonymous SNV Y277Y 0.497 0.497 0.469 193 583 191 0.495 138 0 0 0 0 0.072 6182 chr11 56468699 56468699 T A rs79251113 OR9G1, OR9G9 Nonsynonymous SNV V279E 0.497 0.497 0.466 193 583 191 0.495 137 0 0 0 0 24.2 6183 chr1 208207839 208207839 G A rs3736963 PLXNA2 Synonymous SNV Y1621Y 0.565 0.576 0.588 200 663 221 0.513 173 186 64 50 50 6.146 6184 chr1 208390155 208390155 C T rs4844657 PLXNA2 Synonymous SNV L371L 0.205 0.177 0.238 99 241 68 0.254 70 23 8 6 13 9.824 6185 chr11 56468704 56468704 T C rs79288825 OR9G1, OR9G9 Nonsynonymous SNV F281L 0.496 0.497 0.463 192 582 191 0.492 136 0 0 0 0 15.12 6186 chr1 208390162 208390162 T C rs4844658 PLXNA2 Nonsynonymous SNV E369G 0.204 0.177 0.231 99 239 68 0.254 68 23 8 5 13 23.2 6187 chr11 4608242 4608242 T C rs61744242 OR52I2 Nonsynonymous SNV I67T 0.024 0.018 0.054 8 28 7 0.021 16 0 0 0 0 0.003 6188 chr11 48145375 48145375 A C rs1566734 PTPRJ Nonsynonymous SNV Q276P 0.237 0.245 0.248 98 278 94 0.251 73 31 7 6 10 Pathogenic 0.069 6189 chr11 56468720 56468720 T C rs66943455 OR9G1, OR9G9 Nonsynonymous SNV L286P 0.478 0.471 0.432 184 561 181 0.472 127 0 0 0 0 9.737 6190 chr11 47303275 47303275 T C rs326217 MADD Synonymous SNV N480N 0.371 0.359 0.357 123 436 138 0.315 105 85 21 20 19 1.312 6191 chr1 204587240 204587240 G A rs3747632 LRRN2 Synonymous SNV D627D 0.362 0.417 0.364 145 425 160 0.372 107 85 29 20 22 0.003 6192 chr1 208390469 208390469 C T rs3748735 PLXNA2 Nonsynonymous SNV A267T 0.227 0.255 0.282 77 267 98 0.197 83 32 16 9 6 19.21 6193 chr11 44289071 44289071 G A rs12419361 ALX4 Synonymous SNV L293L 0.124 0.104 0.133 56 146 40 0.144 39 10 1 5 7 Benign 8.028 6194 chr11 380315 380315 C T rs117291242 B4GALNT4 Synonymous SNV L913L 0.015 0.013 0.01 5 18 5 0.013 3 1 0 0 0 14.04 6195 chr11 56510623 56510623 A G rs513873 OR9G4 Nonsynonymous SNV V222A 0.302 0.284 0.357 110 355 109 0.282 105 44 13 19 12 23.2 6196 chr11 48146622 48146622 G A rs1503185 PTPRJ Nonsynonymous SNV R326Q 0.235 0.245 0.248 98 276 94 0.251 73 31 7 6 10 0.001 6197 chr1 209605637 209605654 AGCAGCAGCAGCAGCAGC - rs781155012 MIR205HG 0.014 0.01 0.007 3 17 4 0.008 2 0 0 0 0 6198 chr1 209605643 209605654 AGCAGCAGCAGC - MIR205HG 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 6199 chr11 56510672 56510672 T C rs577576 OR9G4 Nonsynonymous SNV N206D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.95 6200 chr1 209782343 209782343 A G rs11119314 CAMK1G Synonymous SNV P218P 0.393 0.398 0.405 144 461 153 0.369 119 85 34 30 25 0.279 6201 chr11 4621639 4621639 C T rs2231975 TRIM68 Nonsynonymous SNV C219Y 0.058 0.06 0.061 19 68 23 0.049 18 3 0 1 0 5.022 6202 chr11 56510694 56510694 T C rs1397053 OR9G4 Synonymous SNV P198P 0.235 0.203 0.286 76 276 78 0.195 84 20 8 13 5 0.065 6203 chr1 209788703 209788703 T C rs1049607 LAMB3 Synonymous SNV S1144S 0.387 0.398 0.303 160 454 153 0.41 89 84 28 12 38 Benign 5.424 6204 chr11 56756664 56756664 G A rs2853083 OR5AK2 Nonsynonymous SNV M92I 0.613 0.599 0.605 235 720 230 0.603 178 209 68 54 74 0.001 6205 chr1 209795909 209795909 T C rs3179860 LAMB3 Synonymous SNV L891L 0.188 0.211 0.136 69 221 81 0.177 40 17 9 5 10 Benign 3.829 6206 chr11 48238549 48238549 G A rs11606506 OR4B1 Nonsynonymous SNV C63Y 0.237 0.245 0.248 99 278 94 0.254 73 35 7 7 10 0.001 6207 chr1 209796329 209796329 T A rs12748250 LAMB3 Nonsynonymous SNV M852L 0.19 0.211 0.139 70 223 81 0.179 41 17 9 5 10 Benign 16.41 6208 chr11 46388881 46388881 C A rs147007748 DGKZ Nonsynonymous SNV P68T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.36 6209 chr11 5700340 5700340 T C rs3740995 TRIM5 Synonymous SNV L159L 0.863 0.891 0.874 346 1013 342 0.887 257 435 151 114 155 0.12 6210 chr11 48239182 48239182 C A rs7130086 OR4B1 Nonsynonymous SNV T274K 0.237 0.245 0.224 99 278 94 0.254 66 35 7 7 10 25.3 6211 chr11 57004344 57004344 G T rs948847 APLNR Synonymous SNV G45G 0.62 0.625 0.626 253 728 240 0.649 184 215 78 61 81 1.105 6212 chr11 44331592 44331592 G A ALX4 Synonymous SNV V7V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.55 6213 chr1 209799253 209799253 A G rs2179402 LAMB3 Synonymous SNV C572C 0.807 0.779 0.806 314 947 299 0.805 237 384 118 95 126 Benign 1.099 6214 chr11 5701001 5701001 C T rs10838525 TRIM5 Nonsynonymous SNV R136Q 0.377 0.401 0.347 146 443 154 0.374 102 80 27 18 24 1.149 6215 chr1 209811886 209811886 T G rs2076356 LAMB3 Synonymous SNV S97S 0.661 0.656 0.701 276 776 252 0.708 206 257 86 70 104 Benign 2.356 6216 chr11 4824878 4824878 A C rs2053116 OR52R1 Nonsynonymous SNV S245A 0.521 0.555 0.48 190 612 213 0.487 141 151 58 31 47 15.47 6217 chr1 205272918 205272918 G A rs35070935 NUAK2 Nonsynonymous SNV A516V 0.014 0.01 0.017 14 17 4 0.036 5 0 0 0 0 12.67 6218 chr1 209823354 209823354 G A rs2228339 LAMB3 Synonymous SNV T46T 0.289 0.307 0.211 95 339 118 0.244 62 49 24 5 16 Benign 10.58 6219 chr11 57077464 57077464 T C rs10896602 TNKS1BP1 Synonymous SNV Q907Q 0.395 0.349 0.381 144 464 134 0.369 112 92 23 15 23 0.002 6220 chr11 46685569 46685569 C T rs569301751 ATG13 Nonsynonymous SNV A271V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 6221 chr11 57081197 57081197 G C rs4939134 TNKS1BP1 Nonsynonymous SNV T322S 0.503 0.542 0.514 217 590 208 0.556 151 146 57 34 58 0.014 6222 chr1 209950760 209950760 C G rs669694 TRAF3IP3 Nonsynonymous SNV Q109E 0.768 0.789 0.799 301 902 303 0.772 235 344 122 94 113 9.16 6223 chr11 4825010 4825010 T A rs6578533 OR52R1 Nonsynonymous SNV N201Y 0.521 0.555 0.48 190 612 213 0.487 141 151 58 31 47 0.599 6224 chr11 27137086 27137086 C T rs76937267 BBOX1 Synonymous SNV A207A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 17.64 6225 chr11 36472800 36472800 A G rs3740958 PRR5L Synonymous SNV Q81Q 0.118 0.133 0.133 50 139 51 0.128 39 9 0 2 3 7.136 6226 chr1 205277781 205277781 C T rs2275868 NUAK2 Synonymous SNV R144R 0.043 0.047 0.024 20 51 18 0.051 7 1 0 0 0 16.84 6227 chr1 210004199 210004199 C G rs585627 UTP25 Nonsynonymous SNV Q67E 0.748 0.768 0.772 278 878 295 0.713 227 318 115 92 100 6.503 6228 chr11 57087983 57087983 C G rs34448143 TNKS1BP1 Nonsynonymous SNV A100P 0.072 0.073 0.044 31 85 28 0.079 13 3 2 0 1 22.6 6229 chr11 4825225 4825225 A G rs7941731 OR52R1 Nonsynonymous SNV I129T 0.519 0.552 0.48 190 609 212 0.487 141 149 58 31 47 24.3 6230 chr11 408174 408174 G T rs117739035 SIGIRR Nonsynonymous SNV S80Y 0.015 0.013 0.017 7 18 5 0.018 5 1 0 0 0 23.9 6231 chr11 57099661 57099661 T C rs2230648 SSRP1 Synonymous SNV V322V 0.019 0.018 0.034 4 22 7 0.01 10 0 0 0 0 1.048 6232 chr1 210006603 210006603 C T rs656566 UTP25 Synonymous SNV P154P 0.747 0.768 0.772 277 877 295 0.71 227 317 115 92 99 13.52 6233 chr11 4566460 4566460 T - rs77893620 OR52M1 F14Sfs*32 0.005 0.01 0.003 5 6 4 0.013 1 0 0 0 0 6234 chr11 57102096 57102096 A G rs2230649 SSRP1 Synonymous SNV R27R 0.102 0.109 0.116 36 120 42 0.092 34 7 3 2 2 9.716 6235 chr1 210577873 210577873 G C rs2066721 HHAT Synonymous SNV L179L 0.723 0.734 0.772 307 849 282 0.787 227 306 98 88 119 9.574 6236 chr11 57114109 57114109 G A rs34572680 P2RX3 Nonsynonymous SNV A71T 0.019 0.018 0.034 4 22 7 0.01 10 0 0 0 0 23.2 6237 chr1 210857457 210857457 A G rs1135317 KCNH1 Synonymous SNV D685D 0.801 0.807 0.731 312 940 310 0.8 215 382 127 95 124 0.069 6238 chr11 2797237 2797237 G A rs1057128 KCNQ1 Synonymous SNV S546S 0.165 0.167 0.194 54 194 64 0.138 57 13 6 9 3 Benign 11.72 6239 chr11 4567152 4567152 C T rs61734237 OR52M1 Synonymous SNV C244C 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 8.687 6240 chr1 212225343 212225343 T C rs2993547 RPL21P28 0.531 0.573 0.259 189 623 220 0.485 76 311 110 38 94 4.64 6241 chr11 57147016 57147016 A G rs540687 PRG3 Nonsynonymous SNV I109T 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.001 6242 chr1 212273639 212273639 C T rs3135474 DTL Nonsynonymous SNV A165V 0.986 0.992 0.949 380 1157 381 0.974 279 570 189 133 185 0.008 6243 chr11 57148175 57148175 A G rs669661 PRG3 Nonsynonymous SNV C3R 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 8.521 6244 chr1 212274413 212274413 A C rs6540718 DTL Nonsynonymous SNV K423T 0.996 1 0.976 388 1169 384 0.995 287 582 192 140 193 0.023 6245 chr11 57155001 57155001 G A rs536455 PRG2 Nonsynonymous SNV H195Y 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 10.23 6246 chr1 212459615 212459615 C G rs75232123 PPP2R5A Nonsynonymous SNV P55A 0.038 0.018 0.027 17 45 7 0.044 8 1 0 1 0 12.88 6247 chr11 419706 419706 T C rs114405390 ANO9 Nonsynonymous SNV T460A 0.02 0.008 0.02 10 23 3 0.026 6 0 0 0 0 10.76 6248 chr11 48328644 48328644 C T rs753095 OR4S1 Synonymous SNV N290N 0.359 0.359 0.364 136 422 138 0.349 107 69 22 20 21 6.555 6249 chr11 57155288 57155288 T C rs630396 PRG2 Synonymous SNV A172A 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.529 6250 chr1 212560327 212560327 A G rs792449 PACC1 Synonymous SNV F83F 0.997 1 0.993 386 1170 384 0.99 292 583 192 145 191 1.763 6251 chr11 57157405 57157405 A G rs490358 PRG2 Synonymous SNV L5L 0.688 0.69 0.752 281 808 265 0.721 221 277 89 80 101 9.824 6252 chr1 205814485 205814485 G A rs1104899 PM20D1 Nonsynonymous SNV R153W 0.268 0.258 0.299 94 315 99 0.241 88 47 13 12 10 25.2 6253 chr11 5717762 5717762 T C rs10838543 TRIM22 Synonymous SNV H100H 0.524 0.529 0.497 202 615 203 0.518 146 153 51 38 54 2.069 6254 chr1 212587320 212587320 T C rs4951595 PACC1 Nonsynonymous SNV N47D 0.067 0.034 0.068 25 79 13 0.064 20 2 1 1 1 0.002 6255 chr11 5718517 5718517 G A rs7935564 TRIM22 Nonsynonymous SNV D155N 0.619 0.602 0.646 237 727 231 0.608 190 226 67 65 72 14.65 6256 chr11 4790890 4790890 G A rs117939637 OR51F1 Synonymous SNV I93I 0.078 0.057 0.061 25 92 22 0.064 18 0 1 1 1 8.153 6257 chr1 212619339 212619339 T C rs4804 NENF Synonymous SNV D170D 0.442 0.406 0.412 182 519 156 0.467 121 109 29 31 43 3.608 6258 chr11 28110151 28110151 T C rs12272419 KIF18A Nonsynonymous SNV T273A 0.055 0.076 0.085 19 65 29 0.049 25 1 2 0 0 0.01 6259 chr11 5719667 5719667 T C rs2291842 TRIM22 Synonymous SNV D210D 0.255 0.237 0.255 88 299 91 0.226 75 40 7 6 11 4.857 6260 chr11 47256343 47256343 G A rs144266685 DDB2 Synonymous SNV T246T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign/Likely benign 14.46 6261 chr1 212798977 212798977 A G rs3122712 FAM71A Nonsynonymous SNV N253S 0.266 0.31 0.303 120 312 119 0.308 89 43 24 11 15 1.881 6262 chr1 205887981 205887981 T C rs16856462 SLC26A9 Nonsynonymous SNV H748R 0.106 0.112 0.15 42 124 43 0.108 44 8 4 4 1 Benign 0.001 6263 chr11 57310307 57310307 A G rs80123614 SMTNL1 Synonymous SNV A64A 0.202 0.201 0.197 72 237 77 0.185 58 22 5 0 8 0.579 6264 chr11 47282117 47282117 G C rs34806350 NR1H3 Synonymous SNV A85A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.68 6265 chr11 57563991 57563991 C T rs10896644 CTNND1 Synonymous SNV D60D 0.468 0.521 0.473 210 549 200 0.538 139 128 56 30 55 13.43 6266 chr1 212799870 212799870 A G rs3122713 FAM71A Nonsynonymous SNV N551D 0.784 0.792 0.779 306 920 304 0.785 229 361 119 88 120 4.459 6267 chr11 57571232 57571232 C T rs11229137 CTNND1 Synonymous SNV H419H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.12 6268 chr1 205889329 205889329 C T rs16856470 SLC26A9 Synonymous SNV V695V 0.106 0.117 0.146 41 125 45 0.105 43 7 5 4 0 Benign 13.01 6269 chr11 5757785 5757785 C T rs12792180 OR56B1 Synonymous SNV S13S 0.141 0.167 0.112 39 166 64 0.1 33 11 6 1 6 9.297 6270 chr1 205896647 205896647 A G rs34803033 SLC26A9 Synonymous SNV A396A 0.099 0.109 0.15 42 116 42 0.108 44 5 3 1 2 3.896 6271 chr1 212799949 212799949 C T rs3795842 FAM71A Nonsynonymous SNV T577M 0.556 0.536 0.554 194 653 206 0.497 163 183 56 45 39 10.64 6272 chr11 5758062 5758062 T C rs7397032 OR56B1 Nonsynonymous SNV C106R 0.803 0.781 0.84 328 943 300 0.841 247 369 120 101 142 24.8 6273 chr1 205901000 205901000 G A rs33943971 SLC26A9 Synonymous SNV T180T 0.101 0.107 0.143 43 118 41 0.11 42 5 3 2 2 12.56 6274 chr11 5758118 5758118 A C rs7396766 OR56B1 Synonymous SNV L124L 0.944 0.951 0.949 367 1108 365 0.941 279 522 173 132 172 0.13 6275 chr11 47431703 47431703 A G rs61897432 SLC39A13 Nonsynonymous SNV T20A 0.124 0.133 0.112 47 145 51 0.121 33 9 5 2 3 Benign 0.333 6276 chr1 212900487 212900487 A G rs2244935 NSL1 Synonymous SNV V178V 0.925 0.945 0.912 371 1086 363 0.951 268 505 172 128 177 0.888 6277 chr11 5776287 5776287 C T rs7936512 OR52N4 Nonsynonymous SNV T106I 0.98 0.987 0.973 375 1150 379 0.962 286 563 187 139 181 0.007 6278 chr11 403725 403725 C T rs72848723 PKP3 Synonymous SNV G677G 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 12.03 6279 chr1 212911836 212911836 T C rs15702 NSL1 Nonsynonymous SNV M213V 0.639 0.674 0.656 252 750 259 0.646 193 247 85 62 79 0.001 6280 chr11 4673788 4673788 G A rs17224476 OR51E1 Nonsynonymous SNV S11N 0.161 0.159 0.119 58 189 61 0.149 35 14 2 1 6 0.472 6281 chr11 5776470 5776470 T G rs7394584 OR52N4 Nonsynonymous SNV L167R 0.978 0.987 0.973 375 1148 379 0.962 286 562 187 139 181 0.001 6282 chr1 212965095 212965095 G A rs17856201 NSL1 Nonsynonymous SNV S4F 0.113 0.117 0.177 61 133 45 0.156 52 10 1 7 3 1.546 6283 chr11 5776623 5776623 A T rs7396938 OR52N4 Nonsynonymous SNV N218I 0.978 0.987 0.973 375 1148 379 0.962 286 562 187 139 181 0.002 6284 chr11 36597313 36597313 A G rs2227973 RAG1 Nonsynonymous SNV K820R 0.13 0.115 0.119 47 153 44 0.121 35 10 2 2 3 Benign 9.705 6285 chr11 46760913 46760913 C T rs3136532 F2 Synonymous SNV R608R 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.88 6286 chr1 212965284 212965284 C G rs61736926 TATDN3 Synonymous SNV G7G 0.152 0.185 0.218 72 179 71 0.185 64 9 2 7 6 6.724 6287 chr11 57799371 57799371 G C rs1374570 OR6Q1 Nonsynonymous SNV G316A 0.537 0.547 0.517 194 630 210 0.497 152 165 61 43 53 8.89 6288 chr11 46806071 46806071 G A rs72895824 CKAP5 Synonymous SNV A707A 0.026 0.021 0.007 4 31 8 0.01 2 0 0 0 0 11.56 6289 chr1 213009469 213009469 A G rs10864004 SPATA45 Nonsynonymous SNV I8T 0.65 0.685 0.663 260 763 263 0.667 195 266 94 67 87 0.001 6290 chr11 57947264 57947264 C G rs11229273 OR9Q1 Synonymous SNV A116A 0.315 0.294 0.241 139 370 113 0.356 71 62 21 13 22 8.178 6291 chr11 57958775 57958775 C T rs7120468 OR9Q2 Synonymous SNV D271D 0.28 0.281 0.296 132 329 108 0.338 87 45 19 12 19 11.5 6292 chr11 36631785 36631785 A G rs138838269 C11orf74 Synonymous SNV S44S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 4.167 6293 chr1 213031948 213031948 G C rs11120047 FLVCR1 Nonsynonymous SNV A52P 0.464 0.495 0.493 196 545 190 0.503 145 135 42 35 49 Benign 5.091 6294 chr11 5799468 5799468 C T rs12360738 OR52N5 Nonsynonymous SNV V133I 0.158 0.164 0.126 83 186 63 0.213 37 57 18 9 21 11.33 6295 chr1 206757768 206757768 G A rs150163860 RASSF5 Nonsynonymous SNV R94Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.2 6296 chr1 213068595 213068595 C T rs3207090 FLVCR1 Nonsynonymous SNV T544M 0.417 0.427 0.408 172 489 164 0.441 120 106 32 26 37 Benign 10.03 6297 chr11 57995777 57995777 G A rs11229301 OR10Q1 Nonsynonymous SNV R191C 0.188 0.188 0.231 62 221 72 0.159 68 19 10 7 6 21.6 6298 chr1 213173696 213173696 G T rs143386835 ANGEL2 Nonsynonymous SNV Q262K 0.014 0.016 0.007 5 17 6 0.013 2 0 0 0 0 0.755 6299 chr11 57996084 57996084 G A rs61902844 OR10Q1 Synonymous SNV N88N 0.379 0.367 0.357 140 445 141 0.359 105 84 26 22 25 0.048 6300 chr11 57996312 57996312 C G rs4245219 OR10Q1 Nonsynonymous SNV E12D 0.997 0.995 0.993 385 1170 382 0.987 292 583 190 145 190 0.003 6301 chr1 214492286 214492286 G A rs1134647 SMYD2 Nonsynonymous SNV G165E 0.854 0.867 0.871 342 1003 333 0.877 256 426 143 111 150 12.86 6302 chr11 4471276 4471276 G A rs331537 OR52K2 Nonsynonymous SNV R236H 0.042 0.063 0.085 17 49 24 0.044 25 2 0 0 0 23.7 6303 chr11 3688934 3688934 G A rs147957618 CHRNA10 Synonymous SNV A141A 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 7.445 6304 chr11 5809230 5809230 G A rs12794769 OR52N1 Synonymous SNV L273L 0.158 0.164 0.122 83 186 63 0.213 36 57 18 9 21 0.887 6305 chr1 214507580 214507580 A G rs34259050 SMYD2 Nonsynonymous SNV M384V 0.061 0.044 0.041 31 72 17 0.079 12 1 1 1 0 16.24 6306 chr11 5809308 5809308 A T rs7934670 OR52N1 Nonsynonymous SNV F247I 0.979 0.987 0.976 374 1149 379 0.959 287 563 187 140 181 8.019 6307 chr11 3714489 3714489 C T rs1875 NUP98 Synonymous SNV A1381A 0.159 0.148 0.156 65 187 57 0.167 46 17 5 3 4 17.36 6308 chr11 4471473 4471473 C T rs7934336 OR52K2 Nonsynonymous SNV R302C 0.038 0.063 0.075 16 45 24 0.041 22 1 1 0 0 23.6 6309 chr11 5809548 5809548 G A rs7948009 OR52N1 Nonsynonymous SNV R167C 0.595 0.68 0.646 241 698 261 0.618 190 204 91 58 74 22.5 6310 chr1 214542819 214542819 T C rs1135352 PTPN14 Synonymous SNV E1084E 0.697 0.669 0.66 262 818 257 0.672 194 285 81 63 88 0.234 6311 chr1 214564340 214564340 T C rs7550799 PTPN14 Synonymous SNV R326R 0.69 0.661 0.667 260 810 254 0.667 196 281 79 64 89 9.355 6312 chr11 5809811 5809811 G T rs12365487 OR52N1 Nonsynonymous SNV T79N 0.117 0.12 0.092 66 137 46 0.169 27 8 1 0 4 24.7 6313 chr1 214787130 214787130 G A rs2070064 CENPF Synonymous SNV G11G 0.494 0.456 0.524 186 580 175 0.477 154 146 42 38 41 12.42 6314 chr1 214814571 214814571 C T rs3795521 CENPF Synonymous SNV L964L 0.487 0.438 0.514 186 572 168 0.477 151 148 42 38 41 4.496 6315 chr11 58125620 58125620 T C rs4127353 OR5B17 Nonsynonymous SNV Y308C 0.678 0.695 0.69 264 796 267 0.677 203 267 90 74 85 0.1 6316 chr1 214820099 214820099 A G rs3748697 CENPF Nonsynonymous SNV N2396D 0.495 0.44 0.452 187 581 169 0.479 133 149 40 34 41 8.61 6317 chr11 58126305 58126305 A T rs4939208 OR5B17 Nonsynonymous SNV L80I 0.678 0.695 0.69 264 796 267 0.677 203 266 90 74 85 0.002 6318 chr11 32635479 32635479 A G rs1038893313 CCDC73 Synonymous SNV A795A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.286 6319 chr1 207269919 207269919 C T rs8942 C4BPB Synonymous SNV N154N 0.25 0.237 0.293 105 294 91 0.269 86 36 8 12 15 Benign 7.187 6320 chr11 3838639 3838639 C T PGAP2 Synonymous SNV T74T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.86 6321 chr1 214826196 214826196 G A rs335524 CENPF Nonsynonymous SNV R2729Q 0.457 0.492 0.442 176 537 189 0.451 130 132 50 27 39 0.179 6322 chr11 58169996 58169996 T C rs12279895 OR5B3 Nonsynonymous SNV K296R 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 14.09 6323 chr1 214830617 214830617 A G rs438034 CENPF Nonsynonymous SNV R2943G 0.575 0.599 0.537 217 675 230 0.556 158 190 69 43 63 10.67 6324 chr11 58170025 58170025 C G rs12271646 OR5B3 Synonymous SNV L286L 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 0.172 6325 chr11 4566870 4566870 T C rs61747520 OR52M1 Synonymous SNV S150S 0.056 0.068 0.068 24 66 26 0.062 20 2 0 0 0 0.002 6326 chr11 58170143 58170143 C G rs11229409 OR5B3 Nonsynonymous SNV G247A 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 6.502 6327 chr1 214837110 214837110 C G rs7289 CENPF Nonsynonymous SNV N3106K 0.567 0.602 0.565 212 666 231 0.544 166 183 69 48 60 7.945 6328 chr11 58170291 58170291 T C rs11229410 OR5B3 Nonsynonymous SNV I198V 0.316 0.302 0.303 122 371 116 0.313 89 56 15 18 16 0.001 6329 chr1 215741053 215741053 T G rs2275768 KCTD3 Nonsynonymous SNV F9V 0.3 0.286 0.218 113 352 110 0.29 64 66 21 20 23 11.1 6330 chr11 58170342 58170342 C T rs11229411 OR5B3 Nonsynonymous SNV A181T 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 24.8 6331 chr11 44069719 44069719 G A rs11037840 ACCSL Nonsynonymous SNV V45M 0.007 0 0.007 9 8 0 0.023 2 0 0 0 0 0.063 6332 chr1 215793834 215793834 G A rs14137 KCTD3 Synonymous SNV A772A 0.577 0.615 0.493 230 677 236 0.59 145 190 71 29 66 4.325 6333 chr1 215848587 215848587 T C rs2797234 USH2A Synonymous SNV T4222T 0.332 0.365 0.31 142 390 140 0.364 91 66 26 11 28 Benign 0.746 6334 chr11 58170374 58170374 T C rs12280114 OR5B3 Nonsynonymous SNV N170S 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 17 6335 chr11 44074303 44074303 G A rs77666758 ACCSL Synonymous SNV E288E 0.006 0 0.014 5 7 0 0.013 4 0 0 0 0 4.495 6336 chr1 215848641 215848641 T C rs2797235 USH2A Synonymous SNV T4204T 0.815 0.81 0.776 319 957 311 0.818 228 392 122 84 129 Benign 0.201 6337 chr11 58170469 58170469 C A rs11229412 OR5B3 Synonymous SNV V138V 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 7.412 6338 chr1 215960167 215960167 T G rs10864198 USH2A Nonsynonymous SNV E3411A 0.519 0.523 0.561 210 609 201 0.538 165 161 54 50 57 Benign 2.889 6339 chr11 45986980 45986980 G A rs35646259 PHF21A Synonymous SNV T293T 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 11.2 6340 chr11 58170738 58170738 A G rs11229413 OR5B3 Nonsynonymous SNV W49R 0.316 0.299 0.303 122 371 115 0.313 89 56 15 18 16 0.002 6341 chr11 58190112 58190112 A G rs10466659 OR5B2 Nonsynonymous SNV V208A 0.221 0.195 0.197 81 259 75 0.208 58 35 6 6 4 0.021 6342 chr1 216219781 216219781 A G rs6657250 USH2A Nonsynonymous SNV I2106T 0.662 0.654 0.667 259 777 251 0.664 196 257 84 66 88 Benign 6.63 6343 chr11 58190136 58190136 A G rs4298923 OR5B2 Nonsynonymous SNV M200T 0.462 0.44 0.476 170 542 169 0.436 140 130 37 34 36 1.243 6344 chr1 216348764 216348764 C T rs1805049 USH2A Nonsynonymous SNV R1486K 0.563 0.625 0.67 227 661 240 0.582 197 180 72 66 67 Benign 6.144 6345 chr11 46702227 46702227 G C rs750706312 ARHGAP1 Nonsynonymous SNV P236A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 6346 chr11 58207203 58207203 C T rs11229457 OR5B12 Nonsynonymous SNV C141Y 0.221 0.193 0.197 81 259 74 0.208 58 35 6 6 4 0.002 6347 chr1 208212224 208212224 C T rs34457681 PLXNA2 Nonsynonymous SNV V1536M 0.035 0.039 0.031 13 41 15 0.033 9 1 0 0 0 24.7 6348 chr1 216592003 216592003 T C rs4253963 USH2A Synonymous SNV T168T 0.537 0.596 0.588 217 631 229 0.556 173 151 64 57 54 Benign 0.078 6349 chr1 216595306 216595306 C T rs10779261 USH2A Nonsynonymous SNV A125T 0.615 0.654 0.656 250 722 251 0.641 193 206 82 65 78 Benign 2.856 6350 chr11 58207204 58207204 A G rs4938895 OR5B12 Nonsynonymous SNV C141R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 6351 chr11 46724717 46724728 AGTGGTGACAGA - rs148055528 ZNF408 V186_V189del 0.111 0.091 0.082 41 130 35 0.105 24 7 3 4 3 6352 chr11 44331550 44331550 G A rs61737298 ALX4 Synonymous SNV Y21Y 0.013 0.016 0.017 1 15 6 0.003 5 0 0 0 0 Benign 8.281 6353 chr1 216692669 216692669 C T rs945453 ESRRG Synonymous SNV S68S 0.533 0.531 0.565 210 626 204 0.538 166 161 59 47 54 13.07 6354 chr11 58378424 58378424 A G rs8373 ZFP91, ZFP91 Nonsynonymous SNV S207G 0.262 0.247 0.245 102 308 95 0.262 72 40 10 11 13 24.9 6355 chr11 46745003 46745003 C T rs5896 F2 Nonsynonymous SNV T165M 0.112 0.083 0.082 42 132 32 0.108 24 7 3 4 3 Benign/Likely benign 13.57 6356 chr1 209605637 209605648 AGCAGCAGCAGC - rs3842530 MIR205HG 0.654 0.638 0.65 274 768 245 0.703 191 264 79 65 96 6357 chr1 219383867 219383867 T C rs940571 LYPLAL1 Nonsynonymous SNV F68L 0.981 0.974 0.99 383 1152 374 0.982 291 573 187 145 191 7.93 6358 chr1 209785206 209785206 G A rs11119315 CAMK1G Nonsynonymous SNV V329I 0.176 0.169 0.126 84 207 65 0.215 37 20 7 1 9 4.048 6359 chr11 5841856 5841856 C T rs4758435 OR52N2 Synonymous SNV N97N 0.789 0.758 0.81 286 926 291 0.733 238 360 111 96 105 3.073 6360 chr1 219383905 219383905 A G rs940570 LYPLAL1 Nonsynonymous SNV I80M 0.988 0.99 0.99 387 1160 380 0.992 291 577 190 145 192 14.86 6361 chr11 44956459 44956459 G A rs61752934 TP53I11 Synonymous SNV V130V 0.035 0.039 0.044 16 41 15 0.041 13 0 0 0 0 14.78 6362 chr11 5842310 5842310 T G rs8181529 OR52N2 Nonsynonymous SNV S249A 0.551 0.607 0.595 207 647 233 0.531 175 178 77 50 55 8.869 6363 chr11 33689652 33689652 G A rs61736869 KIAA1549L Synonymous SNV V2131V 0.061 0.055 0.075 23 72 21 0.059 22 2 0 0 0 12.53 6364 chr1 220154768 220154768 C T rs1061160 EPRS1 Synonymous SNV Q1135Q 0.321 0.357 0.361 132 377 137 0.338 106 59 27 20 27 16.05 6365 chr11 46890197 46890197 G A rs2290883 LRP4 Synonymous SNV F1635F 0.098 0.073 0.078 37 115 28 0.095 23 4 2 4 3 Benign 15.31 6366 chr11 5842356 5842356 A G rs8181512 OR52N2 Nonsynonymous SNV H264R 0.486 0.568 0.561 178 571 218 0.456 165 139 67 43 42 23.2 6367 chr1 220156704 220156704 T C rs5030752 EPRS1 Nonsynonymous SNV I1043V 0.084 0.089 0.068 34 99 34 0.087 20 3 2 0 3 3.99 6368 chr11 58478084 58478084 T C rs675815 GLYAT Nonsynonymous SNV N156S 0.972 0.979 0.98 376 1141 376 0.964 288 554 184 141 182 0.001 6369 chr1 220156729 220156729 C T rs5030754 EPRS1 Synonymous SNV K1034K 0.091 0.099 0.085 37 107 38 0.095 25 6 2 2 3 17.7 6370 chr11 45924057 45924057 C T rs117665789 MAPK8IP1 Nonsynonymous SNV P247S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.3 6371 chr1 220162004 220162004 C T rs36122746 EPRS Synonymous SNV A901A 0.025 0.021 0.02 13 29 8 0.033 6 1 0 0 0 15.02 6372 chr1 220197625 220197625 G T rs2230301 EPRS1 Nonsynonymous SNV D308E 0.75 0.745 0.796 286 881 286 0.733 234 332 110 93 107 0.372 6373 chr11 46897446 46897446 G A rs2306033 LRP4 Nonsynonymous SNV A1203V 0.098 0.073 0.078 37 115 28 0.095 23 4 2 4 3 Benign 9.159 6374 chr11 5877979 5877979 T A rs12419602 OR52E8 X318Y 0.348 0.383 0.344 137 409 147 0.351 101 84 29 21 24 13.85 6375 chr11 58979517 58979517 C G MPEG1 Nonsynonymous SNV R274S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 6376 chr11 34482908 34482908 C T rs769217 CAT Synonymous SNV D389D 0.289 0.286 0.296 93 339 110 0.238 87 53 17 14 7 Benign 17.85 6377 chr11 5905600 5905600 T C rs137886566 OR52E4 Synonymous SNV H26H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 6378 chr11 48387201 48387201 G A rs77053100 OR4C5 Stop gain R273X 0.496 0.495 0.289 193 582 190 0.495 85 0 0 0 0 34 6379 chr11 48286234 48286234 A G rs61732322 OR4X1 Synonymous SNV T274T 0.063 0.076 0.051 26 74 29 0.067 15 1 3 1 0 0.001 6380 chr11 5906048 5906048 G A rs4758168 OR52E4 Nonsynonymous SNV V176I 0.733 0.737 0.755 291 860 283 0.746 222 318 102 83 113 6.351 6381 chr11 48387206 48387206 T C rs76817095 OR4C5 Nonsynonymous SNV Y271C 0.494 0.49 0.282 192 580 188 0.492 83 0 0 0 0 22.2 6382 chr1 220440885 220440885 - T rs34147613 AURKAP1 0.31 0.341 0.102 123 364 131 0.315 30 64 24 10 29 6383 chr1 220921945 220921945 G C rs337188 MTARC2 Synonymous SNV G24G 0.159 0.146 0.041 53 187 56 0.136 12 16 5 0 3 9.025 6384 chr11 45949745 45949745 G A rs61736294 LARGE2 Nonsynonymous SNV R591Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.49 6385 chr11 5906073 5906073 G T rs4757986 OR52E4 Nonsynonymous SNV R184M 0.732 0.737 0.755 291 859 283 0.746 222 317 102 83 113 0.749 6386 chr1 220935081 220935081 G A rs2275575 MARC2 Synonymous SNV A176A 0.17 0.151 0.184 60 200 58 0.154 54 18 6 6 3 5.877 6387 chr1 220970028 220970028 A G rs2642438 MTARC1 Nonsynonymous SNV T165A 0.717 0.727 0.721 287 842 279 0.736 212 299 103 76 107 0.05 6388 chr11 45671452 45671452 G A rs57330063 CHST1 Nonsynonymous SNV T341I 0.013 0.005 0.003 5 15 2 0.013 1 0 0 0 0 13.52 6389 chr11 5906143 5906143 T C rs11823809 OR52E4 Synonymous SNV Y207Y 0.352 0.38 0.344 139 413 146 0.356 101 82 27 21 25 0.003 6390 chr1 211846876 211846876 A G rs701929 NEK2 Synonymous SNV H168H 0.47 0.477 0.463 190 552 183 0.487 136 129 40 31 44 Benign 0.349 6391 chr11 4608116 4608116 T C rs7128702 OR52I2 Nonsynonymous SNV L25P 0.072 0.068 0.037 40 84 26 0.103 11 2 2 0 1 0.002 6392 chr11 5906192 5906192 A C rs1453435 OR52E4 Synonymous SNV R224R 0.733 0.737 0.759 291 860 283 0.746 223 318 102 84 113 0.008 6393 chr1 221053574 221053574 A C rs62621984 HLX Nonsynonymous SNV Q125H 0.089 0.081 0.065 44 105 31 0.113 19 7 1 2 4 0.016 6394 chr11 5906203 5906203 T G rs11823828 OR52E4 Nonsynonymous SNV F227L 0.353 0.38 0.344 138 414 146 0.354 101 82 27 21 25 19.81 6395 chr11 5906291 5906291 T C rs11823842 OR52E4 Nonsynonymous SNV F257L 0.353 0.38 0.344 138 414 146 0.354 101 82 27 21 25 10.68 6396 chr1 221057646 221057646 C T rs2738755 HLX Nonsynonymous SNV P356L 0.373 0.352 0.371 160 438 135 0.41 109 84 23 20 36 20.5 6397 chr11 4615857 4615857 G A rs61978566 OR52I1 Nonsynonymous SNV V197M 0.066 0.055 0.02 34 77 21 0.087 6 1 1 0 1 12.66 6398 chr11 59132798 59132798 G C rs7941190 OR5AN1 Nonsynonymous SNV L289F 0.687 0.682 0.697 250 806 262 0.641 205 270 91 75 85 24.2 6399 chr1 221057739 221057739 C G rs11578466 HLX Nonsynonymous SNV A387G 0.259 0.216 0.241 115 304 83 0.295 71 37 7 9 19 22.7 6400 chr11 4616062 4616062 C T rs61997187 OR52I1 Nonsynonymous SNV A265V 0.066 0.055 0.02 34 78 21 0.087 6 2 1 0 1 3.461 6401 chr11 47282024 47282024 C T rs2279238 NR1H3 Synonymous SNV S54S 0.097 0.094 0.082 49 114 36 0.126 24 5 3 2 4 15.49 6402 chr1 221912361 221912361 T C rs1141714 DUSP10 Synonymous SNV E242E 0.701 0.693 0.67 271 823 266 0.695 197 276 91 65 91 0.128 6403 chr11 59189661 59189661 C A rs559985281 OR5A2 Stop gain G256X 0.003 0 0.003 0 3 0 0 1 0 0 0 0 36 6404 chr11 4616119 4616119 T C rs61997192 OR52I1 Nonsynonymous SNV L284P 0.066 0.055 0.02 34 77 21 0.087 6 1 1 0 1 23.5 6405 chr1 221912808 221912808 T C rs1136448 DUSP10 Synonymous SNV Q93Q 0.457 0.445 0.388 162 537 171 0.415 114 117 38 25 32 0.088 6406 chr11 45944596 45944596 C T rs543863960 LARGE2 Nonsynonymous SNV R55C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 6407 chr11 59189912 59189912 G A rs1453547 OR5A2 Nonsynonymous SNV P172L 0.294 0.31 0.272 128 345 119 0.328 80 45 19 14 25 25.9 6408 chr1 222713503 222713503 C G rs3748664 HHIPL2 Synonymous SNV T433T 0.218 0.229 0.211 88 256 88 0.226 62 30 12 10 6 7.852 6409 chr11 46430081 46430081 C A rs72910100 AMBRA1 Nonsynonymous SNV A1069S 0.013 0.023 0.037 7 15 9 0.018 11 0 0 0 0 13.8 6410 chr11 59210761 59210761 C G rs11605572 OR5A1 Synonymous SNV T40T 0.293 0.31 0.276 129 344 119 0.331 81 44 19 14 25 0.022 6411 chr1 222713631 222713631 G C rs3748666 HHIPL2 Nonsynonymous SNV H391D 0.218 0.229 0.211 88 256 88 0.226 62 30 12 10 6 0.003 6412 chr11 47306585 47306585 G A rs1051006 MADD Nonsynonymous SNV V751M 0.099 0.094 0.085 50 116 36 0.128 25 5 3 2 4 10.54 6413 chr11 4608468 4608468 G A rs147493036 OR52I2 Synonymous SNV T142T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.086 6414 chr11 59211188 59211188 G A rs6591536 OR5A1 Nonsynonymous SNV D183N 0.67 0.674 0.68 250 786 259 0.641 200 260 90 72 82 27.2 6415 chr11 4661243 4661243 T C rs61740347 OR51D1 Nonsynonymous SNV F75L 0.126 0.143 0.061 57 148 55 0.146 18 8 4 1 3 13.64 6416 chr1 222721288 222721288 C T rs4846382 HHIPL2 Synonymous SNV L33L 0.624 0.612 0.609 240 732 235 0.615 179 227 75 52 73 2.913 6417 chr11 59211265 59211265 T C rs7941591 OR5A1 Synonymous SNV T208T 0.67 0.674 0.68 250 786 259 0.641 200 260 90 72 82 0.002 6418 chr11 59211421 59211421 C T rs17591107 OR5A1 Synonymous SNV F260F 0.293 0.31 0.276 129 344 119 0.331 81 44 19 14 25 13.09 6419 chr1 222732027 222732027 T C rs76003336 TAF1A Nonsynonymous SNV Y329C 0.03 0.023 0.02 9 35 9 0.023 6 0 0 1 0 12.41 6420 chr11 4661568 4661568 A G rs61746547 OR51D1 Nonsynonymous SNV Q183R 0.126 0.143 0.061 57 148 55 0.146 18 8 4 1 3 0.001 6421 chr11 5922222 5922222 T C rs10160336 OR52E5 Synonymous SNV D76D 0.448 0.505 0.432 173 526 194 0.444 127 120 45 31 40 3.294 6422 chr11 59224608 59224608 A G rs1453544 OR4D6 Nonsynonymous SNV M59V 0.293 0.31 0.279 130 344 119 0.333 82 44 19 15 26 23.1 6423 chr11 47371442 47371442 G A rs11570051 MYBPC3 Synonymous SNV A179A 0.014 0.018 0.02 11 16 7 0.028 6 0 0 0 0 Benign 10.45 6424 chr11 4661826 4661826 T C rs79020081 OR51D1 Nonsynonymous SNV I269T 0.126 0.143 0.061 57 148 55 0.146 18 8 4 1 3 22.5 6425 chr1 222734803 222734803 G C rs1134898 TAF1A Synonymous SNV G267G 0.476 0.466 0.432 181 559 179 0.464 127 133 44 27 44 6.895 6426 chr11 59224720 59224720 A G rs1453543 OR4D6 Nonsynonymous SNV D96G 0.995 1 0.983 388 1168 384 0.995 289 581 192 142 193 8.876 6427 chr1 222802006 222802006 A G rs2936053 MIA3 Nonsynonymous SNV K482E 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.157 6428 chr11 4626617 4626617 G A rs150218235 TRIM68 Nonsynonymous SNV L40F 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 24 6429 chr11 59224885 59224885 G C rs1453542 OR4D6 Nonsynonymous SNV S151T 0.313 0.323 0.299 135 367 124 0.346 88 52 23 18 26 19.44 6430 chr1 222802803 222802803 T G rs3748626 MIA3 Synonymous SNV P747P 0.71 0.672 0.697 283 834 258 0.726 205 299 87 72 100 3.057 6431 chr11 47470345 47470345 G A rs34312154 RAPSN Nonsynonymous SNV R58C 0.051 0.044 0.051 17 60 17 0.044 15 0 1 0 0 Benign 34 6432 chr1 222802926 222802926 C T rs3008620 MIA3 Synonymous SNV S788S 0.927 0.919 0.888 350 1088 353 0.897 261 505 162 119 156 13.06 6433 chr11 59225221 59225221 T C rs1453541 OR4D6 Nonsynonymous SNV M263T 0.324 0.326 0.306 140 380 125 0.359 90 57 23 18 27 0.001 6434 chr1 222833601 222833601 T C rs3002153 MIA3 Synonymous SNV P564P 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 4.59 6435 chr1 222919895 222919895 T G rs2378607 FAM177B Nonsynonymous SNV I3S 0.687 0.656 0.639 277 806 252 0.71 188 282 83 65 93 8.652 6436 chr11 5922707 5922707 C T rs7106300 OR52E5 Nonsynonymous SNV P238L 0.943 0.924 0.946 357 1107 355 0.915 278 522 164 131 164 11.71 6437 chr11 59271637 59271637 T C rs7120079 OR4D11 Nonsynonymous SNV F197L 0.308 0.359 0.384 150 362 138 0.385 113 58 24 23 24 0.002 6438 chr11 4661351 4661351 C T rs139569444 OR51D1 Synonymous SNV L111L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.365 6439 chr1 222923351 222923351 A G rs6683071 FAM177B Nonsynonymous SNV Q143R 0.768 0.745 0.769 320 902 286 0.821 226 352 106 88 130 0.001 6440 chr11 59480616 59480616 G A rs151255947 OR10V1 Nonsynonymous SNV R235C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 29.4 6441 chr11 4661863 4661863 C T rs117132486 OR51D1 Synonymous SNV T281T 0.022 0.01 0.027 3 26 4 0.008 8 0 0 1 0 1.009 6442 chr11 59480951 59480951 T C rs499033 OR10V1 Nonsynonymous SNV Q123R 0.888 0.867 0.925 356 1043 333 0.913 272 461 145 125 161 0.197 6443 chr1 223178561 223178561 A C rs9441941 DISP1 Synonymous SNV P1274P 0.606 0.576 0.575 223 711 221 0.572 169 219 62 49 59 Benign 0.925 6444 chr11 3681063 3681063 C T rs35123761 ART1 Nonsynonymous SNV P105L 0.052 0.055 0.051 17 61 21 0.044 15 2 2 0 1 10.96 6445 chr1 214542891 214542891 G A rs61749332 PTPN14 Synonymous SNV H1060H 0.03 0.021 0.007 12 35 8 0.031 2 0 0 0 0 Benign 9.4 6446 chr1 223178878 223178878 G A rs368932347 DISP1 Nonsynonymous SNV S1380N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.64 6447 chr11 59623433 59623433 G A rs1042613 TCN1 Synonymous SNV S282S 0.204 0.24 0.201 90 239 92 0.231 59 18 10 5 9 2.936 6448 chr11 5968728 5968728 T C rs1840178 OR56A3 Nonsynonymous SNV M51T 0.45 0.523 0.435 184 528 201 0.472 128 121 50 30 45 0.451 6449 chr1 223283910 223283910 A G rs7512943 TLR5 Nonsynonymous SNV F822L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.513 6450 chr1 214811244 214811244 C G rs2070065 CENPF Nonsynonymous SNV H494Q 0.1 0.078 0.092 47 117 30 0.121 27 9 1 3 3 8.708 6451 chr11 48145166 48145166 G A rs2270993 PTPRJ Synonymous SNV E206E 0.064 0.063 0.071 26 75 24 0.067 21 0 1 1 1 7.028 6452 chr1 214813487 214813487 A G rs2070066 CENPF Synonymous SNV L602L 0.055 0.039 0.031 31 64 15 0.079 9 1 1 1 1 5.017 6453 chr1 223284528 223284528 A G rs5744174 TLR5 Nonsynonymous SNV F616L 0.368 0.38 0.361 139 432 146 0.356 106 68 24 21 21 0.001 6454 chr11 59837097 59837097 C T rs528823 MS4A3 Synonymous SNV T65T 0.38 0.414 0.323 138 446 159 0.354 95 84 30 14 21 6.548 6455 chr1 214813782 214813782 A G rs3795524 CENPF Nonsynonymous SNV M701V 0.052 0.042 0.048 26 61 16 0.067 14 1 1 1 0 0.002 6456 chr11 59940599 59940599 T A rs7232 MS4A6A Nonsynonymous SNV T213S 0.42 0.477 0.381 169 493 183 0.433 112 100 40 23 37 9.076 6457 chr1 214813941 214813941 C G rs3795523 CENPF Nonsynonymous SNV Q754E 0.052 0.042 0.048 25 61 16 0.064 14 1 1 1 0 0.237 6458 chr1 223567803 223567803 G A rs10907376 CCDC185 Nonsynonymous SNV G329D 0.279 0.198 0.248 99 327 76 0.254 73 53 8 8 15 8.468 6459 chr11 59945745 59945745 T C rs12453 MS4A6A Synonymous SNV L137L 0.466 0.531 0.439 188 547 204 0.482 129 126 50 28 42 0.07 6460 chr11 392702 392702 G A rs143728940 PKP3 Synonymous SNV T25T 0.008 0.018 0 4 9 7 0.01 0 0 0 0 0 3.894 6461 chr1 214814125 214814125 G A rs3795522 CENPF Nonsynonymous SNV R815H 0.052 0.042 0.048 25 61 16 0.064 14 1 1 1 0 2.082 6462 chr1 223900408 223900408 C G rs25655 CAPN2 Nonsynonymous SNV D22E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.967 6463 chr11 6007272 6007272 A G rs4237768 OR52L1 Nonsynonymous SNV W297R 0.822 0.828 0.813 322 965 318 0.826 239 398 131 94 131 13.05 6464 chr11 60073597 60073597 C T rs4644658 MS4A4A Synonymous SNV L138L 0.997 1 0.993 387 1171 384 0.992 292 584 192 145 192 10.99 6465 chr1 223905532 223905532 G A rs17596 CAPN2 Synonymous SNV L24L 0.75 0.742 0.721 295 881 285 0.756 212 330 110 83 112 17.39 6466 chr11 6007613 6007613 T G rs4354673 OR52L1 Nonsynonymous SNV K183T 0.777 0.773 0.772 296 912 297 0.759 227 353 114 82 111 11.3 6467 chr1 223934720 223934720 G A rs17600 CAPN2 Synonymous SNV A116A 0.892 0.891 0.881 355 1047 342 0.91 259 465 153 114 161 4.544 6468 chr1 214814582 214814582 G A rs3795520 CENPF Synonymous SNV R967R 0.047 0.042 0.044 25 55 16 0.064 13 1 1 1 0 8.254 6469 chr1 223954080 223954080 A C rs17599 CAPN2 Nonsynonymous SNV K490Q 0.215 0.229 0.194 118 252 88 0.303 57 32 13 6 18 27.2 6470 chr1 214814733 214814733 T G rs3795519 CENPF Nonsynonymous SNV Y1018D 0.052 0.042 0.034 25 61 16 0.064 10 1 1 1 0 23.1 6471 chr11 6007680 6007680 A G rs4436524 OR52L1 Nonsynonymous SNV C161R 0.779 0.776 0.776 296 914 298 0.759 228 355 114 83 111 0.001 6472 chr1 224492746 224492746 C T rs3754090 NVL Synonymous SNV L30L 0.945 0.951 0.929 374 1110 365 0.959 273 524 173 128 179 9.215 6473 chr11 4703321 4703321 G A rs1123990 OR51E2 Synonymous SNV G207G 0.032 0.026 0.024 5 38 10 0.013 7 0 0 0 0 0.379 6474 chr11 6007743 6007743 A G rs4436525 OR52L1 Nonsynonymous SNV C140R 0.765 0.784 0.755 303 898 301 0.777 222 347 114 82 116 1.528 6475 chr1 214814778 214814778 G A rs3795518 CENPF Nonsynonymous SNV G1033R 0.058 0.042 0.037 30 68 16 0.077 11 1 1 1 1 5.578 6476 chr11 4703420 4703420 C T rs7939559 OR51E2 Synonymous SNV S174S 0.032 0.026 0.024 5 37 10 0.013 7 0 0 0 0 12.61 6477 chr1 224495852 224495852 C T rs7534447 NVL Synonymous SNV R46R 0.945 0.951 0.935 374 1110 365 0.959 275 524 173 129 179 5.871 6478 chr11 60152563 60152563 T A rs950803 MS4A7 Synonymous SNV T50T 0.696 0.674 0.762 285 817 259 0.731 224 287 87 90 99 9.854 6479 chr11 4703654 4703654 A G rs12575331 OR51E2 Synonymous SNV C96C 0.032 0.026 0.024 5 37 10 0.013 7 0 0 0 0 0.086 6480 chr1 225230608 225230608 C T rs2501107 DNAH14 Synonymous SNV C520C 0.934 0.956 0.922 372 1097 367 0.954 271 514 175 125 177 Benign 11.5 6481 chr1 214814995 214814995 C T rs12067133 CENPF Nonsynonymous SNV T1105I 0.052 0.042 0.044 25 61 16 0.064 13 1 1 1 0 8.008 6482 chr11 60152584 60152584 G A rs950802 MS4A7 Synonymous SNV L57L 0.477 0.479 0.52 205 560 184 0.526 153 146 43 40 51 6.803 6483 chr11 4703762 4703762 G T rs12576387 OR51E2 Synonymous SNV L60L 0.032 0.026 0.024 5 37 10 0.013 7 0 0 0 0 4.627 6484 chr1 225266966 225266966 C G rs3105559 DNAH14 Nonsynonymous SNV L828V 0.929 0.948 0.908 371 1091 364 0.951 267 512 174 123 177 Benign 0.09 6485 chr11 60165353 60165354 TT - rs3217518 MS4A14 I56Sfs*10 0.701 0.669 0.762 284 823 257 0.728 224 292 87 90 98 6486 chr11 47185680 47185680 G A rs11039114 C11orf49 Synonymous SNV Q286Q 0.24 0.227 0.276 101 282 87 0.259 81 42 12 9 16 11.08 6487 chr1 214815916 214815916 T C rs3795517 CENPF Nonsynonymous SNV L1412S 0.052 0.042 0.048 26 61 16 0.067 14 1 1 1 0 1.76 6488 chr11 60173360 60173360 A G rs4938941 MS4A14 0.7 0.669 0.765 285 822 257 0.731 225 290 87 91 99 23.3 6489 chr1 225268343 225268343 A G rs3128651 DNAH14 Nonsynonymous SNV K1010R 0.934 0.956 0.922 372 1097 367 0.954 271 514 175 125 177 Benign 0.025 6490 chr11 60182970 60182970 A T rs7131283 MS4A14 Nonsynonymous SNV N160Y 0.716 0.706 0.765 285 840 271 0.731 225 300 96 86 102 18.3 6491 chr1 214816142 214816142 T G rs3795516 CENPF Synonymous SNV L1487L 0.052 0.042 0.048 26 61 16 0.067 14 1 1 1 0 5.869 6492 chr1 225268346 225268346 G A rs3128652 DNAH14 Nonsynonymous SNV R1011Q 0.934 0.956 0.922 372 1097 367 0.954 271 514 175 125 177 Benign 0.062 6493 chr11 60184191 60184191 G A rs3825020 MS4A14 Nonsynonymous SNV G567R 0.642 0.641 0.687 263 754 246 0.674 202 246 79 72 82 2.54 6494 chr1 214816224 214816224 G A rs2666839 CENPF Nonsynonymous SNV A1515T 0.111 0.094 0.095 50 130 36 0.128 28 8 1 3 3 0.675 6495 chr11 407441 407441 G A rs377142758 SIGIRR Synonymous SNV D203D 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 5.885 6496 chr1 225270409 225270409 A T rs3128655 DNAH14 Nonsynonymous SNV N1099Y 0.836 0.836 0.857 326 981 321 0.836 252 443 148 107 144 Benign 15.81 6497 chr11 60264947 60264947 C T rs2298552 MS4A12 Synonymous SNV Y52Y 0.508 0.458 0.558 192 596 176 0.492 164 149 47 43 52 7.584 6498 chr1 214816297 214816297 A G rs3795514 CENPF Nonsynonymous SNV K1539R 0.047 0.036 0.034 20 55 14 0.051 10 1 0 0 0 0.12 6499 chr11 60265002 60265002 C T rs2298553 MS4A12 Stop gain Q71X 0.46 0.406 0.473 179 540 156 0.459 139 123 37 34 41 35 6500 chr11 47303165 47303165 A G rs61751747 MADD Nonsynonymous SNV N444D 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Benign 22.7 6501 chr1 225273248 225273248 G T rs3128658 DNAH14 Nonsynonymous SNV M1110I 0.934 0.956 0.895 372 1096 367 0.954 263 514 175 123 177 Benign 10.57 6502 chr1 214818215 214818215 G A rs3748692 CENPF Nonsynonymous SNV D1768N 0.053 0.042 0.044 26 62 16 0.067 13 1 1 1 0 1.383 6503 chr11 60271259 60271259 A G rs116528387 MS4A12 Nonsynonymous SNV N140S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.452 6504 chr1 225528183 225528183 C A rs3856145 DNAH14 Nonsynonymous SNV D3486E 0.403 0.443 0.333 158 473 170 0.405 98 102 40 24 30 Benign 21.3 6505 chr1 214818223 214818223 T A rs3748693 CENPF Nonsynonymous SNV H1770Q 0.106 0.091 0.088 45 124 35 0.115 26 6 1 3 1 0.044 6506 chr11 47306581 47306581 G A rs764756499 MADD Synonymous SNV S749S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.3 6507 chr11 60285575 60285575 A G rs10736706 MS4A13 Nonsynonymous SNV I7V 0.996 0.992 0.986 386 1169 381 0.99 290 582 189 144 191 0.001 6508 chr1 225533684 225533684 A G rs6667999 DNAH14 Nonsynonymous SNV K3567E 0.398 0.43 0.364 156 467 165 0.4 107 102 40 25 30 Benign 0.333 6509 chr1 214818846 214818846 A G rs3790646 CENPF Nonsynonymous SNV D1978G 0.053 0.042 0.048 26 62 16 0.067 14 1 1 1 0 0.616 6510 chr11 47371578 47371578 G A rs3218719 MYBPC3 Synonymous SNV G164G 0.032 0.031 0.061 13 37 12 0.033 18 1 0 0 0 Benign/Likely benign 12.65 6511 chr11 60296909 60296909 C G rs192724638 MS4A13 Nonsynonymous SNV H67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.37 6512 chr1 225533931 225533931 A G rs17522489 DNAH14 Nonsynonymous SNV Q3649R 0.121 0.122 0.109 40 142 47 0.103 32 7 4 5 3 12.46 6513 chr1 214818945 214818945 A C rs3790647 CENPF Nonsynonymous SNV E2011A 0.053 0.042 0.048 25 62 16 0.064 14 1 1 1 0 0.276 6514 chr11 60531264 60531264 A G rs12363342 MS4A15 Nonsynonymous SNV S20G 0.409 0.333 0.408 162 480 128 0.415 120 93 17 20 37 9.981 6515 chr11 48387960 48387960 T C rs79688019 OR4C5 Nonsynonymous SNV T20A 0.499 0.5 0.374 195 586 192 0.5 110 0 0 0 0 0.001 6516 chr1 225534219 225534219 T C rs7527925 DNAH14 Nonsynonymous SNV V3720A 0.405 0.445 0.378 158 475 171 0.405 111 102 41 25 30 Benign 5.71 6517 chr11 60531346 60531346 T G rs1032939 MS4A15 Nonsynonymous SNV L47R 0.427 0.464 0.378 144 501 178 0.369 111 105 41 16 23 11.63 6518 chr1 214819328 214819328 G A rs3748695 CENPF Nonsynonymous SNV A2139T 0.053 0.042 0.048 25 62 16 0.064 14 1 1 1 0 0.003 6519 chr11 4388946 4388946 T A OR52B4 Nonsynonymous SNV I194F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 6520 chr11 48387978 48387978 T A rs78160589 OR4C5 Stop gain K14X 0.499 0.5 0.323 195 586 192 0.5 95 0 0 0 0 22.7 6521 chr1 225534348 225534348 G A rs7535953 DNAH14 Nonsynonymous SNV R3763K 0.405 0.443 0.34 158 475 170 0.405 100 102 40 24 30 Benign 0.613 6522 chr11 60610056 60610056 G C rs2074421 CCDC86 Nonsynonymous SNV Q153H 0.07 0.07 0.078 24 82 27 0.062 23 3 0 0 0 7.855 6523 chr11 48387983 48387983 T C rs75819836 OR4C5 Nonsynonymous SNV H12R 0.499 0.5 0.313 195 586 192 0.5 92 0 0 0 0 0.001 6524 chr1 214819587 214819587 A G rs12058704 CENPF Nonsynonymous SNV Q2225R 0.05 0.042 0.048 25 59 16 0.064 14 1 1 1 0 0.017 6525 chr1 225555512 225555512 C T rs11578981 DNAH14 Synonymous SNV A4032A 0.637 0.617 0.571 251 748 237 0.644 168 241 72 51 81 Benign 17.2 6526 chr11 4869906 4869906 A C rs7117260 OR51S1 Nonsynonymous SNV L178R 0.735 0.721 0.701 280 863 277 0.718 206 322 98 76 107 0.001 6527 chr11 60620585 60620585 A G rs2467642 PTGDR2 Nonsynonymous SNV V204A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.005 6528 chr1 214819980 214819980 C T rs3748696 CENPF Nonsynonymous SNV A2356V 0.053 0.042 0.044 25 62 16 0.064 13 1 1 1 0 0.131 6529 chr1 225555602 225555602 T G rs12737248 DNAH14 Nonsynonymous SNV N4062K 0.639 0.617 0.575 252 750 237 0.646 169 242 72 52 81 Benign 0.483 6530 chr11 60620590 60620590 C G rs2428461 PTGDR2 Synonymous SNV R202R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 5.889 6531 chr11 4870269 4870269 A T rs12417164 OR51S1 Nonsynonymous SNV I57N 0.272 0.271 0.282 102 319 104 0.262 83 35 17 15 16 24 6532 chr11 60635091 60635091 T C rs550479 ZP1 Synonymous SNV V19V 0.999 1 0.963 387 1173 384 0.992 283 586 192 139 192 0.069 6533 chr1 214820299 214820299 A G rs3748698 CENPF Synonymous SNV E2462E 0.053 0.042 0.048 26 62 16 0.067 14 1 1 1 0 2.753 6534 chr1 225565015 225565015 T C rs3856154 DNAH14 Nonsynonymous SNV L4198P 0.698 0.659 0.653 275 819 253 0.705 192 282 85 65 95 Benign 11.17 6535 chr11 60637164 60637164 C T rs489172 ZP1 Nonsynonymous SNV T158I 0.897 0.891 0.891 350 1053 342 0.897 262 472 151 117 160 2.519 6536 chr1 214820494 214820494 G A rs3790648 CENPF Synonymous SNV L2527L 0.052 0.042 0.048 25 61 16 0.064 14 1 1 1 0 9.686 6537 chr11 4880992 4880992 C G rs7947547 OR51H1 Nonsynonymous SNV W268S 0.274 0.276 0.276 104 322 106 0.267 81 36 17 13 16 20.3 6538 chr1 214820524 214820524 T C rs3790649 CENPF Synonymous SNV L2537L 0.053 0.042 0.048 26 62 16 0.067 14 1 1 1 0 0.031 6539 chr1 225565073 225565073 C T rs3856155 DNAH14 Synonymous SNV G4217G 0.647 0.609 0.585 255 759 234 0.654 172 251 72 52 81 Benign 13.16 6540 chr11 60638470 60638470 A G rs566411 ZP1 Synonymous SNV V289V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.475 6541 chr11 4928866 4928866 C T rs7941509 OR51A7 Synonymous SNV A89A 0.676 0.719 0.677 252 794 276 0.646 199 268 97 70 86 11 6542 chr1 225569241 225569241 T G rs950210 DNAH14 Nonsynonymous SNV F4346C 0.696 0.656 0.646 275 817 252 0.705 190 282 84 64 95 Benign 7.24 6543 chr11 60666341 60666341 G A rs3763840 PRPF19 Synonymous SNV S349S 0.411 0.396 0.364 158 483 152 0.405 107 104 27 17 30 11.68 6544 chr11 4936613 4936613 G T rs16907312 OR51G2 Nonsynonymous SNV A94E 0.229 0.255 0.235 72 269 98 0.185 69 28 10 5 6 2.025 6545 chr11 60689445 60689445 T C rs555835 TMEM109 Synonymous SNV P180P 0.544 0.523 0.507 215 639 201 0.551 149 175 45 41 67 0.369 6546 chr11 60695301 60695301 C A rs575123 TMEM132A Synonymous SNV A168A 0.607 0.596 0.544 239 713 229 0.613 160 223 62 49 76 9.685 6547 chr1 225607144 225607144 C T rs2230419 LBR Nonsynonymous SNV S154N 0.851 0.826 0.799 346 999 317 0.887 235 441 145 104 154 Benign 0.002 6548 chr11 60698054 60698054 G A rs2074416 TMEM132A Synonymous SNV L313L 0.409 0.391 0.367 159 480 150 0.408 108 104 26 17 30 8.676 6549 chr11 4790396 4790396 G A rs17324609 OR51F1 Nonsynonymous SNV A258V 0.162 0.159 0.15 70 190 61 0.179 44 14 7 3 5 22.6 6550 chr11 60699230 60699230 G A rs2285733 TMEM132A Synonymous SNV A363A 0.015 0.029 0.01 6 18 11 0.015 3 1 0 0 0 14.61 6551 chr1 225609884 225609884 A G rs1056608 LBR Synonymous SNV P87P 0.828 0.815 0.803 328 972 313 0.841 236 406 130 96 139 Benign 10.04 6552 chr11 60701136 60701136 C G rs9513 TMEM132A Synonymous SNV P494P 0.474 0.464 0.384 182 556 178 0.467 113 140 40 24 40 5.079 6553 chr1 225611661 225611661 C T rs1056607 LBR Synonymous SNV V39V 0.733 0.693 0.704 298 861 266 0.764 207 318 98 73 113 Benign 15.02 6554 chr11 60704213 60704213 C T rs2469887 TMEM132A Nonsynonymous SNV A970V 0.467 0.464 0.418 182 548 178 0.467 123 139 40 25 40 26.3 6555 chr1 226019633 226019633 T C rs1051740 EPHX1 Nonsynonymous SNV Y113H 0.271 0.286 0.269 105 318 110 0.269 79 39 18 7 10 drug response 29.6 6556 chr11 4790482 4790482 T C rs12792898 OR51F1 Synonymous SNV L229L 0.162 0.159 0.15 70 190 61 0.179 44 14 7 3 5 1.358 6557 chr11 4790575 4790575 A G rs12788102 OR51F1 Synonymous SNV C198C 0.162 0.159 0.15 70 190 61 0.179 44 14 7 3 5 0.198 6558 chr11 60705454 60705454 A G rs2905692 SLC15A3 Synonymous SNV G493G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.089 6559 chr11 5021055 5021055 C G rs61734126 OR51L1 Nonsynonymous SNV I281M 0.067 0.081 0.075 38 79 31 0.097 22 3 3 0 0 21 6560 chr1 226026406 226026406 A G rs2234922 EPHX1 Nonsynonymous SNV H139R 0.177 0.188 0.173 56 208 72 0.144 51 17 5 3 3 drug response 0.002 6561 chr11 60775227 60775227 C T rs139918339 CD6 Nonsynonymous SNV P105L 0.113 0.109 0.105 57 133 42 0.146 31 11 1 4 4 19.06 6562 chr1 226032229 226032229 C T rs1051741 EPHX1 Synonymous SNV N357N 0.095 0.109 0.092 16 111 42 0.041 27 2 1 1 0 16.28 6563 chr11 60785263 60785263 A G rs61755080 CD6 Nonsynonymous SNV T507A 0.112 0.099 0.095 48 132 38 0.123 28 11 1 3 4 0.005 6564 chr1 226032984 226032984 T C rs377705438 EPHX1 Nonsynonymous SNV F435S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 6565 chr1 215914826 215914826 T C rs35309576 USH2A Nonsynonymous SNV M3868V 0.198 0.237 0.255 80 232 91 0.205 75 24 13 11 3 Benign 0.002 6566 chr11 60785352 60785352 A G rs1050922 CD6 Synonymous SNV S536S 0.793 0.781 0.755 302 931 300 0.774 222 371 117 81 114 0.046 6567 chr1 226054333 226054333 G A rs45492299 TMEM63A Nonsynonymous SNV L206F 0.135 0.151 0.167 43 159 58 0.11 49 11 4 2 2 26.7 6568 chr1 215916563 215916563 G A rs11120616 USH2A Nonsynonymous SNV T3835I 0.193 0.234 0.255 79 226 90 0.203 75 23 12 10 3 Benign 21.9 6569 chr11 60886913 60886913 C T rs2241002 CD5 Nonsynonymous SNV P167L 0.155 0.146 0.177 67 182 56 0.172 52 11 4 6 6 2.342 6570 chr1 226055595 226055595 G A rs2292564 TMEM63A Synonymous SNV D169D 0.239 0.276 0.276 65 281 106 0.167 81 29 15 12 6 3.165 6571 chr11 60892606 60892606 A G rs637186 CD5 Nonsynonymous SNV H404R 0.907 0.898 0.901 364 1065 345 0.933 265 484 155 119 170 0.002 6572 chr1 226474132 226474132 G A rs10799347 LIN9 Synonymous SNV F49F 0.647 0.612 0.619 253 759 235 0.649 182 246 76 62 82 11.85 6573 chr11 5172795 5172795 - C rs112098990 OR52A1 Frameshift insertion S269Vfs*13 0.309 0.323 0.313 126 363 124 0.323 92 52 23 17 18 6574 chr11 60893235 60893235 C T rs2229177 CD5 Nonsynonymous SNV A414V 0.527 0.573 0.476 215 619 220 0.551 140 169 62 30 56 31 6575 chr1 226570840 226570840 T C rs1805415 PARP1 Synonymous SNV K352K 0.865 0.857 0.84 339 1016 329 0.869 247 453 148 106 150 1.957 6576 chr1 216172380 216172380 A G rs10864219 USH2A Nonsynonymous SNV I2169T 0.498 0.474 0.469 194 585 182 0.497 138 150 40 38 54 Benign 16.28 6577 chr1 226825448 226825448 C T rs41314270 ITPKB Nonsynonymous SNV A853T 0.006 0.023 0 6 7 9 0.015 0 0 1 0 0 25.6 6578 chr11 60899767 60899767 A G rs754382 VPS37C Nonsynonymous SNV L198S 0.633 0.674 0.493 257 743 259 0.659 145 254 91 43 87 0.02 6579 chr1 226923264 226923264 G A rs708775 ITPKB Synonymous SNV A632A 0.331 0.323 0.347 130 389 124 0.333 102 67 21 16 24 12.2 6580 chr11 60971069 60971069 A G rs1130676 PGA3 Synonymous SNV A11A 0.42 0.365 0.418 153 493 140 0.392 123 98 30 32 24 0.077 6581 chr11 610277 610277 T C rs11246212 PHRF1 Nonsynonymous SNV V1449A 0.911 0.885 0.888 348 1069 340 0.892 261 489 151 114 157 0.001 6582 chr1 226923505 226923505 G T rs708776 ITPKB Nonsynonymous SNV P552Q 0.968 0.984 0.98 382 1136 378 0.979 288 550 186 141 187 4.073 6583 chr11 46321667 46321667 C T rs190038304 CREB3L1 Nonsynonymous SNV A95V 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 25.2 6584 chr11 61106892 61106892 G C rs2513329 TKFC Synonymous SNV T157T 0.989 0.995 0.969 386 1161 382 0.99 285 574 190 138 191 6.497 6585 chr11 4842925 4842925 C A rs7114668 OR51F2 Synonymous SNV R92R 0.072 0.068 0.085 21 85 26 0.054 25 1 2 0 0 12.51 6586 chr1 226923938 226923938 A C rs6667260 ITPKB Nonsynonymous SNV S408A 0.606 0.638 0.616 250 711 245 0.641 181 209 75 51 75 0.002 6587 chr11 61108974 61108974 G A rs2260655 TKFC Nonsynonymous SNV A185T 0.986 0.995 0.969 386 1157 382 0.99 285 574 190 138 191 7.635 6588 chr11 4869649 4869649 G A rs12361955 OR51S1 Nonsynonymous SNV L264F 0.462 0.445 0.418 179 542 171 0.459 123 120 38 28 42 17.81 6589 chr11 5221089 5221089 G C OR51V1 Nonsynonymous SNV A281G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 6590 chr11 61111346 61111346 C G rs35723406 TKFC Nonsynonymous SNV A334G 0.091 0.089 0.112 38 107 34 0.097 33 6 4 3 2 11.79 6591 chr1 226924876 226924884 CTGCCGCTG - rs147889095 ITPKB G94_S96del 0.331 0.32 0.337 130 389 123 0.333 99 66 20 16 24 6592 chr1 227069677 227069677 T C rs11405 PSEN2 Synonymous SNV A23A 0.795 0.841 0.789 319 933 323 0.818 232 365 135 92 130 Benign 2.131 6593 chr11 61112802 61112802 C T rs2305465 TKFC Synonymous SNV V437V 0.989 0.995 0.966 386 1161 382 0.99 284 574 190 138 191 17.14 6594 chr1 227069737 227069737 C T rs6759 PSEN2 Synonymous SNV N43N 0.616 0.674 0.612 255 723 259 0.654 180 216 82 50 79 Benign 6.998 6595 chr11 61165280 61165280 G A rs3741265 TMEM216 Synonymous SNV P88P 0.901 0.901 0.874 359 1058 346 0.921 257 477 158 113 166 Benign 11.51 6596 chr1 216824427 216824427 A G rs375522340 ESRRG Synonymous SNV N136N 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 5.822 6597 chr11 4870139 4870139 G A rs11602455 OR51S1 Synonymous SNV V100V 0.461 0.443 0.418 176 541 170 0.451 123 121 38 28 41 6.122 6598 chr11 61165731 61165731 - A rs11382548 TMEM216 0.901 0.901 0.871 359 1058 346 0.921 256 477 158 112 166 6599 chr11 61165741 61165741 G C rs10897158 TMEM216, TMEM216 Nonsynonymous SNV R147T 0.888 0.896 0.84 356 1043 344 0.913 247 463 156 104 163 Benign 23.8 6600 chr1 227071525 227071525 C T rs1046240 PSEN2 Synonymous SNV H87H 0.617 0.674 0.612 255 724 259 0.654 180 215 82 50 79 Benign 17.14 6601 chr11 4825349 4825349 A G rs17327254 OR52R1 Nonsynonymous SNV F88L 0.152 0.128 0.116 57 179 49 0.146 34 14 4 1 4 11.31 6602 chr11 4870261 4870261 G C rs11602499 OR51S1 Nonsynonymous SNV Q60E 0.463 0.443 0.418 179 543 170 0.459 123 120 38 28 42 0.001 6603 chr1 217947738 217947738 G A rs6604561 SPATA17 Synonymous SNV Q194Q 0.724 0.711 0.741 293 850 273 0.751 218 310 94 79 110 1.55 6604 chr11 5247857 5247857 - C HBB Frameshift insertion L89Afs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 6605 chr1 227149203 227149203 G A rs11549708 COQ8A Synonymous SNV A39A 0.219 0.25 0.231 80 257 96 0.205 68 25 7 7 4 Benign 6.562 6606 chr11 61179285 61179285 G A rs3019198 CPSF7 Synonymous SNV I403I 0.888 0.896 0.847 356 1043 344 0.913 249 463 156 105 163 12.21 6607 chr11 5247860 5247860 T - HBB T88Hfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 6608 chr11 5247861 5247861 G A HBB Synonymous SNV A87A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.911 6609 chr11 61249383 61249383 C A rs3019200 PPP1R32 Synonymous SNV T34T 0.879 0.888 0.85 346 1032 341 0.887 250 455 154 108 153 22.5 6610 chr11 5247863 5247863 C A HBB Nonsynonymous SNV A87S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.53 6611 chr11 4870298 4870298 T G rs11601065 OR51S1 Synonymous SNV A47A 0.311 0.286 0.269 116 365 110 0.297 79 56 17 12 22 0.016 6612 chr1 227172290 227172290 C T rs12593 COQ8A Synonymous SNV F480F 0.445 0.508 0.456 173 522 195 0.444 134 119 45 31 36 Benign 15.81 6613 chr11 6129837 6129837 C T rs1462983 OR56B4 Nonsynonymous SNV P277S 0.421 0.443 0.446 172 494 170 0.441 131 97 41 35 39 20.4 6614 chr1 227174210 227174210 T C rs3738725 COQ8A Synonymous SNV S572S 0.497 0.552 0.503 189 583 212 0.485 148 147 53 38 41 Benign 0.006 6615 chr11 4880892 4880892 T C rs11034368 OR51H1 Synonymous SNV Q301Q 0.469 0.445 0.418 177 551 171 0.454 123 121 38 28 42 0.004 6616 chr11 5247867 5247867 G A HBB Synonymous SNV T85T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.466 6617 chr11 614864 614864 C T rs1061501 IRF7 Synonymous SNV R122R 0.903 0.878 0.884 347 1060 337 0.89 260 480 149 113 156 10.04 6618 chr1 227182033 227182033 G A rs2802269 CDC42BPA Nonsynonymous SNV A1671V 0.864 0.875 0.833 339 1014 336 0.869 245 439 146 106 147 13.57 6619 chr11 489479 489481 CGT - PTDSS2 R104del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6620 chr11 4928621 4928621 G A rs11034596 OR51A7 Nonsynonymous SNV E8K 0.081 0.065 0.071 28 95 25 0.072 21 2 0 1 1 0.061 6621 chr11 61524974 61524974 G A rs198460 MYRF-AS1 0 0 0.554 0 0 0 0 163 0 0 45 0 2.275 6622 chr11 48387668 48387668 C G rs10769651 OR4C5 Nonsynonymous SNV G117A 0.233 0.224 0.15 85 273 86 0.218 44 0 0 0 0 0.757 6623 chr11 61525020 61525020 G A rs198459 MYRF-AS1 0 0 0.235 0 0 0 0 69 0 0 8 0 8.167 6624 chr1 227182575 227182575 A G rs1045247 CDC42BPA Synonymous SNV S1631S 0.842 0.867 0.823 332 989 333 0.851 242 415 143 99 139 6.836 6625 chr11 61539015 61539015 C T rs144545667 MYRF Nonsynonymous SNV P262S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 6626 chr1 227216662 227216662 T C rs1929861 CDC42BPA Synonymous SNV K1313K 0.462 0.479 0.466 178 542 184 0.456 137 139 39 34 39 0.053 6627 chr11 61544804 61544804 C G rs144177087 MYRF Synonymous SNV T553T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 6628 chr11 61551356 61551356 T C rs174535 MYRF Synonymous SNV S1011S 0.268 0.237 0.269 127 315 91 0.326 79 50 10 9 23 0.343 6629 chr1 227216775 227216775 C T rs1929860 CDC42BPA Nonsynonymous SNV V1276I 0.308 0.323 0.299 126 362 124 0.323 88 60 14 18 19 11.36 6630 chr11 61672235 61672235 T C rs174473 RAB3IL1 Synonymous SNV T233T 0.234 0.198 0.231 87 275 76 0.223 68 35 4 11 5 1.275 6631 chr11 5344681 5344681 G A rs11036815 OR51B2 Nonsynonymous SNV P283S 0.293 0.302 0.347 124 344 116 0.318 102 53 17 18 19 27.6 6632 chr11 61672265 61672265 T C rs174474 RAB3IL1 Synonymous SNV R223R 0.24 0.203 0.235 91 282 78 0.233 69 37 5 12 7 7.234 6633 chr11 4945233 4945233 C T rs35264256 OR51G1 Nonsynonymous SNV E113K 0.059 0.057 0.037 25 69 22 0.064 11 1 1 0 2 25 6634 chr11 61675644 61675644 T C rs174477 RAB3IL1 Nonsynonymous SNV Q96R 0.166 0.133 0.143 62 195 51 0.159 42 19 5 4 4 0.022 6635 chr1 227504794 227504794 T C rs11804613 CDC42BPA Synonymous SNV T30T 0.124 0.122 0.133 44 146 47 0.113 39 6 3 3 1 0.115 6636 chr11 4945236 4945236 T C rs35666095 OR51G1 Nonsynonymous SNV M112V 0.059 0.057 0.037 25 69 22 0.064 11 1 1 0 2 0.001 6637 chr1 227920665 227920665 A G rs41270159 JMJD4 Nonsynonymous SNV F342L 0.058 0.06 0.088 15 68 23 0.038 26 1 0 1 0 18.35 6638 chr11 61730036 61730036 G A rs149698 BEST1 Synonymous SNV T383T 0.295 0.245 0.289 99 346 94 0.254 85 50 15 14 13 Benign 14.22 6639 chr11 47185667 47185667 G A rs150053918 C11orf49 Nonsynonymous SNV R282Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.857 6640 chr11 61730183 61730183 C T rs1800008 BEST1 Synonymous SNV S432S 0.253 0.26 0.276 120 297 100 0.308 81 35 11 12 23 Benign 11.05 6641 chr1 227922918 227922918 A C rs2295994 JMJD4 Nonsynonymous SNV D65E 0.329 0.339 0.401 127 386 130 0.326 118 59 21 26 19 0.001 6642 chr11 61730234 61730234 T C rs1800009 BEST1 Synonymous SNV T449T 0.342 0.37 0.381 157 402 142 0.403 112 75 26 23 34 Benign 0.552 6643 chr11 5020509 5020509 C T rs11035066 OR51L1 Synonymous SNV C99C 0.314 0.326 0.279 110 369 125 0.282 82 57 23 13 15 8.506 6644 chr11 61730553 61730553 T C rs17185413 BEST1 Nonsynonymous SNV S537P 0.258 0.263 0.289 121 303 101 0.31 85 36 11 13 23 14.22 6645 chr11 5020799 5020799 C T rs10768448 OR51L1 Nonsynonymous SNV T196I 0.313 0.326 0.279 109 368 125 0.279 82 57 23 13 15 0.002 6646 chr1 227923081 227923081 G A rs7419238 JMJD4 Nonsynonymous SNV A11V 0.994 0.99 0.997 386 1167 380 0.99 293 580 188 146 191 0.576 6647 chr11 617537 617537 C T rs2740380 CDHR5 Synonymous SNV P590P 0.565 0.513 0.531 211 663 197 0.541 156 193 48 39 61 11.01 6648 chr11 617967 617967 C G rs2740379 CDHR5 Nonsynonymous SNV C508S 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.003 6649 chr1 227935444 227935444 A G rs2236359 SNAP47 Nonsynonymous SNV R3G 0.328 0.341 0.401 128 385 131 0.328 118 59 21 26 19 10.61 6650 chr11 5020832 5020832 C T rs10768450 OR51L1 Nonsynonymous SNV A207V 0.313 0.326 0.279 109 368 125 0.279 82 57 23 13 15 0.01 6651 chr11 61895741 61895741 A G rs1675131 INCENP Synonymous SNV E36E 0.653 0.654 0.684 264 767 251 0.677 201 252 82 65 87 3.858 6652 chr1 228033197 228033197 A G rs9426581 PRSS38 Nonsynonymous SNV M204V 0.824 0.833 0.793 302 967 320 0.774 233 396 135 93 114 0.103 6653 chr11 5067984 5067984 A G rs2500016 OR52J3 Nonsynonymous SNV T77A 0.549 0.544 0.551 181 644 209 0.464 162 186 59 43 41 23.9 6654 chr11 61897359 61897359 C T rs1675133 INCENP Synonymous SNV V120V 0.652 0.641 0.677 264 766 246 0.677 199 252 80 64 87 8.704 6655 chr11 618998 618998 G A rs2740375 CDHR5 Nonsynonymous SNV P515S 0.556 0.505 0.466 208 653 194 0.533 137 190 47 37 61 0.064 6656 chr1 228289843 228289843 C T rs1128456 C1orf35 Synonymous SNV G157G 0.13 0.128 0.122 45 153 49 0.115 36 10 5 2 2 14.1 6657 chr11 5068137 5068137 G A rs2500017 OR52J3 Nonsynonymous SNV V128I 0.549 0.544 0.551 181 645 209 0.464 162 186 59 43 41 2.614 6658 chr11 61906374 61906374 T C rs1675126 INCENP Synonymous SNV N396N 0.919 0.893 0.952 365 1079 343 0.936 280 495 154 133 170 0.027 6659 chr1 228353651 228353651 G C rs55873785 IBA57 Nonsynonymous SNV G45A 0.463 0.505 0.347 177 544 194 0.454 102 133 47 19 39 Benign 0.002 6660 chr11 5068177 5068177 A T rs2500018 OR52J3 Nonsynonymous SNV Q141L 0.549 0.544 0.551 181 645 209 0.464 162 186 59 43 41 0.002 6661 chr11 61913196 61913196 G T rs7129085 INCENP Nonsynonymous SNV E640D 0.569 0.526 0.558 241 668 202 0.618 164 218 69 58 82 23.3 6662 chr1 228362682 228362682 G A rs2298014 IBA57 Nonsynonymous SNV G211S 0.319 0.294 0.34 124 375 113 0.318 100 68 19 14 17 Benign 0.05 6663 chr11 619789 619789 T G rs2246614 CDHR5 Nonsynonymous SNV R357S 0.691 0.633 0.633 261 811 243 0.669 186 292 74 54 92 0.01 6664 chr11 5068297 5068297 G A rs58664826 OR52J3 Nonsynonymous SNV C181Y 0.13 0.122 0.139 38 153 47 0.097 41 11 4 2 0 27.6 6665 chr1 222802657 222802657 G C MIA3 Nonsynonymous SNV G699R 0 0.005 0 2 0 2 0.005 0 0 0 0 0 17.87 6666 chr11 6221169 6221169 A G rs10839531 OR52W1 Nonsynonymous SNV H239R 0.81 0.802 0.762 313 951 308 0.803 224 378 120 86 126 0.001 6667 chr11 5068431 5068431 G A rs17350764 OR52J3 Nonsynonymous SNV V226I 0.221 0.208 0.238 66 259 80 0.169 70 29 10 8 3 14.13 6668 chr1 228399766 228399766 T C rs55971985 OBSCN Synonymous SNV A94A 0.647 0.646 0.612 255 759 248 0.654 180 250 81 54 80 0.002 6669 chr1 228402047 228402047 A G rs1620111 OBSCN Synonymous SNV L477L 0.649 0.648 0.629 257 762 249 0.659 185 252 82 55 82 1.03 6670 chr11 62292882 62292882 G T rs566144 AHNAK Nonsynonymous SNV Q3003K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.084 6671 chr11 5068661 5068661 A G rs2500019 OR52J3 Synonymous SNV E302E 0.549 0.544 0.544 181 645 209 0.464 160 186 59 43 41 0.254 6672 chr1 228402121 228402121 A G rs1771487 OBSCN Nonsynonymous SNV Q502R 0.649 0.648 0.622 257 762 249 0.659 183 252 82 55 82 22.9 6673 chr1 222833538 222833538 C G rs2291835 MIA3 Synonymous SNV G543G 0.223 0.24 0.269 101 262 92 0.259 79 25 9 11 12 17.84 6674 chr11 5068662 5068662 C T rs57026471 OR52J3 Stop gain R303X 0.13 0.122 0.136 38 153 47 0.097 40 11 4 2 0 27.8 6675 chr11 62293948 62293948 G A rs486903 AHNAK Synonymous SNV S2647S 0.675 0.695 0.616 260 793 267 0.667 181 264 94 57 86 11.28 6676 chr11 6231731 6231731 C T rs10769671 C11orf42 Nonsynonymous SNV P242S 0.795 0.781 0.779 303 933 300 0.777 229 369 118 85 121 0.506 6677 chr1 228402508 228402508 C T rs2776853 OBSCN Synonymous SNV L513L 0.351 0.349 0.367 134 412 134 0.344 108 77 25 16 19 6.787 6678 chr11 5080068 5080068 G A rs2500052 OR52E2 Nonsynonymous SNV R264C 0.549 0.542 0.548 181 645 208 0.464 161 186 58 43 41 25 6679 chr1 228407260 228407260 G A rs1771484 OBSCN Synonymous SNV E963E 0.35 0.349 0.34 134 411 134 0.344 100 76 25 18 20 3.397 6680 chr11 62334908 62334908 G C rs1061093 EEF1G Synonymous SNV G205G 0.338 0.365 0.401 151 397 140 0.387 118 63 25 27 29 11.33 6681 chr1 228412227 228412227 T C rs1771480 OBSCN Synonymous SNV S907S 0.36 0.37 0.381 139 423 142 0.356 112 81 30 21 22 0.273 6682 chr11 62369881 62369881 G A rs35156678 EML3 Stop gain Q884X 0.332 0.362 0.398 150 390 139 0.385 117 59 25 27 29 0.179 6683 chr11 5080234 5080234 T C rs2445333 OR52E2 Synonymous SNV L208L 0.315 0.328 0.323 109 370 126 0.279 95 55 22 14 16 0.022 6684 chr1 228412228 228412228 G A rs1757153 OBSCN Nonsynonymous SNV A908T 0.35 0.352 0.371 134 411 135 0.344 109 76 26 18 20 17.09 6685 chr11 47731963 47731963 C G rs139962624 AGBL2 Nonsynonymous SNV L66F 0.002 0.005 0.014 1 2 2 0.003 4 0 0 0 0 Likely benign 0.7 6686 chr11 62369884 62369884 C G rs35880596 EML3 Nonsynonymous SNV A883P 0.331 0.362 0.398 150 389 139 0.385 117 59 25 27 29 0.342 6687 chr11 5080337 5080337 T C rs61746343 OR52E2 Nonsynonymous SNV H174R 0.235 0.219 0.228 72 276 84 0.185 67 37 11 6 5 0.001 6688 chr1 223116472 223116472 G A rs2609383 DISP1 Nonsynonymous SNV E103K 0.148 0.141 0.16 64 174 54 0.164 47 13 3 4 4 Benign 17.45 6689 chr11 5423868 5423868 T A rs2647583 OR51J1 Synonymous SNV T14T 0.121 0.099 0.082 45 142 38 0.115 24 8 4 0 6 0.496 6690 chr1 228412308 228412308 G A rs1757152 OBSCN Synonymous SNV S934S 0.36 0.37 0.384 139 423 142 0.356 113 81 30 21 22 4.307 6691 chr11 62378660 62378660 G A rs12808829 EML3 Synonymous SNV S118S 0.348 0.37 0.384 150 409 142 0.385 113 65 27 27 28 10.59 6692 chr11 5423931 5423931 C T rs2736526 OR51J1 Synonymous SNV S35S 0.121 0.099 0.085 45 142 38 0.115 25 8 4 0 6 6.959 6693 chr1 228431095 228431095 A G rs1771455 OBSCN Synonymous SNV T1047T 0.576 0.555 0.605 237 676 213 0.608 178 196 60 49 70 0.009 6694 chr11 5424125 5424125 G A rs1909261 OR51J1 Nonsynonymous SNV C100Y 0.121 0.099 0.085 45 142 38 0.115 25 8 4 0 6 23.3 6695 chr1 223116474 223116474 G T rs2789975 DISP1 Nonsynonymous SNV E103D 0.148 0.141 0.16 64 174 54 0.164 47 13 3 4 4 Benign 14.07 6696 chr11 62378801 62378801 T C rs11553576 EML3 Synonymous SNV P71P 0.364 0.385 0.422 155 427 148 0.397 124 75 28 30 29 0.154 6697 chr11 4842772 4842772 G A rs147733457 OR51F2 Nonsynonymous SNV V41I 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 0.002 6698 chr1 228432264 228432264 A T rs41305731 OBSCN Nonsynonymous SNV H1158L 0.048 0.049 0.041 11 56 19 0.028 12 0 2 0 0 3.252 6699 chr11 5424170 5424170 C T rs2647582 OR51J1 Nonsynonymous SNV A115V 0.121 0.099 0.085 45 142 38 0.115 25 8 4 0 6 22.6 6700 chr11 5173149 5173149 C A rs77308879 OR52A1 Nonsynonymous SNV V151L 0.06 0.068 0.061 24 71 26 0.062 18 2 1 1 1 0.046 6701 chr11 62381106 62381106 G C rs1799959 ROM1 Nonsynonymous SNV G118A 0.996 0.997 0.976 387 1169 383 0.992 287 582 191 141 192 Benign 0.001 6702 chr1 228433217 228433217 A G rs2487384 OBSCN Synonymous SNV T1195T 0.576 0.555 0.612 237 676 213 0.608 180 196 60 49 70 0.038 6703 chr11 5424232 5424232 C T rs1909260 OR51J1 Nonsynonymous SNV H136Y 0.121 0.099 0.085 45 142 38 0.115 25 8 4 0 6 0.001 6704 chr11 4944892 4944892 G C rs34583466 OR51G1 Synonymous SNV T226T 0.146 0.148 0.15 63 171 57 0.162 44 14 6 3 6 0.354 6705 chr11 62381808 62381808 G C rs1801144 ROM1 Synonymous SNV R223R 0.332 0.346 0.388 145 390 133 0.372 114 58 22 25 25 Benign 7.492 6706 chr11 5199041 5199041 A C rs76561070 OR52Z1 Nonsynonymous SNV V267G 0.055 0.052 0 23 64 20 0.059 0 0 1 0 0 4.689 6707 chr1 228434395 228434395 T C rs7517088 OBSCN Synonymous SNV A1308A 0.576 0.555 0.616 236 676 213 0.605 181 196 60 50 70 0.529 6708 chr11 4944986 4944986 A G rs12796015 OR51G1 Nonsynonymous SNV I195T 0.146 0.148 0.15 63 171 57 0.162 44 14 6 3 6 0.001 6709 chr11 5424387 5424387 - TATC rs113047337 OR51J1 Frameshift insertion C191Ifs*8 0.121 0.102 0.085 45 142 39 0.115 25 8 4 0 6 6710 chr11 6239344 6239344 G A rs3750944 FAM160A2 Nonsynonymous SNV T491M 0.491 0.451 0.48 181 577 173 0.464 141 153 38 31 39 16.52 6711 chr1 228434467 228434467 T C rs7517108 OBSCN Synonymous SNV A1332A 0.578 0.555 0.616 240 679 213 0.615 181 199 60 51 71 3.14 6712 chr1 223284599 223284599 T C rs2072493 TLR5 Nonsynonymous SNV N592S 0.136 0.117 0.126 70 160 45 0.179 37 9 1 1 7 risk factor 0.001 6713 chr11 5424504 5424504 T C rs872163 OR51J1 Synonymous SNV T226T 0.121 0.102 0.085 45 142 39 0.115 25 8 4 0 6 0.004 6714 chr1 228444565 228444565 T A rs7532342 OBSCN Nonsynonymous SNV V1508D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.884 6715 chr11 5424507 5424507 A G rs872164 OR51J1 Synonymous SNV V227V 0.121 0.102 0.085 45 142 39 0.115 25 8 4 0 6 0.32 6716 chr11 62434173 62434173 G A rs11231181 CSKMT Nonsynonymous SNV G125S 0.278 0.286 0.313 128 326 110 0.328 92 40 17 19 21 0.108 6717 chr11 5424532 5424532 A C rs872165 OR51J1 Synonymous SNV R236R 0.121 0.102 0.085 45 142 39 0.115 25 8 4 0 6 0.006 6718 chr1 228461129 228461129 A G rs1188724 OBSCN Nonsynonymous SNV H2048R 0.612 0.607 0.626 253 718 233 0.649 184 221 70 52 79 0.174 6719 chr11 4945199 4945199 C T rs34742470 OR51G1 Nonsynonymous SNV R124H 0.146 0.148 0.15 63 171 57 0.162 44 14 6 3 6 23.1 6720 chr11 6243804 6243804 A G rs3750945 FAM160A2 Synonymous SNV Y353Y 0.854 0.831 0.83 321 1003 319 0.823 244 427 133 103 133 0.047 6721 chr11 5424552 5424552 A G rs872166 OR51J1 Synonymous SNV T242T 0.121 0.102 0.085 45 142 39 0.115 25 8 4 0 6 0.004 6722 chr11 62439554 62439554 G C rs55638384 UQCC3 Nonsynonymous SNV G84R 0.026 0.023 0.014 10 31 9 0.026 4 1 0 0 0 Benign 13.92 6723 chr11 5444150 5444150 C T rs118011081 OR51Q1 Synonymous SNV L240L 0.023 0.016 0.02 9 27 6 0.023 6 0 0 0 0 3.499 6724 chr1 228464248 228464248 T G rs1188721 OBSCN Nonsynonymous SNV D2106E 0.617 0.607 0.626 253 724 233 0.649 184 225 70 52 79 0.276 6725 chr11 5461834 5461834 C G rs77336780 OR51I1 Nonsynonymous SNV G304A 0.089 0.078 0.061 40 105 30 0.103 18 5 1 1 4 0.002 6726 chr11 62458275 62458275 T C rs6856 BSCL2 Nonsynonymous SNV K268R 0.198 0.159 0.228 87 233 61 0.223 67 22 6 9 8 Benign 5.06 6727 chr1 228464276 228464276 T C rs1188722 OBSCN Nonsynonymous SNV F2116L 0.61 0.607 0.626 251 716 233 0.644 184 220 70 52 78 0.058 6728 chr11 5221132 5221132 G A rs61736992 OR51V1 Nonsynonymous SNV L267F 0.03 0.021 0.017 9 35 8 0.023 5 1 0 0 1 21.8 6729 chr11 62496519 62496519 T C rs584845 TTC9C Synonymous SNV L67L 0.239 0.19 0.248 98 280 73 0.251 73 30 8 11 11 8.466 6730 chr11 62505764 62505764 C T rs6675 TTC9C Synonymous SNV A142A 0.193 0.154 0.231 87 227 59 0.223 68 20 6 9 8 17.16 6731 chr1 228465346 228465346 A G rs493945 OBSCN Nonsynonymous SNV N2674D 0.343 0.344 0.357 124 403 132 0.318 105 70 24 17 18 23.2 6732 chr11 62521475 62521475 T C rs72929471 ZBTB3 Synonymous SNV R20R 0 0 0.228 0 0 0 0 67 0 0 9 0 0.002 6733 chr11 5221645 5221645 C G rs11512276 OR51V1 Nonsynonymous SNV G96R 0.29 0.299 0.16 115 340 115 0.295 47 54 20 17 20 22.4 6734 chr11 62564009 62564009 T C rs4693 NXF1 Synonymous SNV R403R 0.594 0.531 0.66 225 697 204 0.577 194 203 57 65 60 9.826 6735 chr1 228471379 228471379 G C rs56168609 OBSCN Synonymous SNV R2971R 0.34 0.328 0.361 127 399 126 0.326 106 73 23 16 20 0.177 6736 chr11 6265242 6265242 G C rs61746967 CNGA4 Nonsynonymous SNV C444S 0.042 0.023 0.071 12 49 9 0.031 21 0 0 0 0 21.4 6737 chr1 228480282 228480282 A G rs1150908 OBSCN Synonymous SNV T3554T 0.623 0.607 0.643 255 731 233 0.654 189 227 70 55 81 0.003 6738 chr11 4928830 4928830 C A rs144796552 OR51A7 Synonymous SNV S77S 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 11.56 6739 chr1 228482010 228482010 C T rs449133 OBSCN Synonymous SNV D3763D 0.401 0.383 0.425 155 471 147 0.397 125 92 29 23 38 11.89 6740 chr1 224585958 224585958 A C rs7522956 MIR4742 0.267 0.242 0.245 115 313 93 0.295 72 39 9 11 17 2.22 6741 chr11 62652779 62652779 C T rs4726 SLC3A2 Synonymous SNV L317L 0.25 0.208 0.265 94 293 80 0.241 78 44 7 8 9 14.77 6742 chr1 228482569 228482569 G A rs56122236 OBSCN Synonymous SNV A3828A 0.033 0.042 0.058 14 39 16 0.036 17 3 1 0 0 9.397 6743 chr11 62763226 62763226 C T rs57743826 SLC22A8 Synonymous SNV L194L 0.026 0.029 0.034 10 30 11 0.026 10 2 0 0 0 13.27 6744 chr1 228492044 228492044 G A rs1150910 OBSCN Synonymous SNV E4681E 0.414 0.401 0.425 163 486 154 0.418 125 96 32 23 39 8.346 6745 chr11 62766431 62766431 A T rs2276299 SLC22A8 Synonymous SNV T118T 0.189 0.19 0.221 73 222 73 0.187 65 23 7 11 7 0.011 6746 chr1 228494790 228494790 G A rs435776 OBSCN Nonsynonymous SNV G4039R 0.413 0.401 0.418 161 485 154 0.413 123 96 32 23 38 22 6747 chr11 62848487 62848487 A C rs11231341 SLC22A24 Stop gain Y501X 0.832 0.799 0.755 313 977 307 0.803 222 408 125 82 129 39 6748 chr11 4790956 4790956 G A rs774280910 OR51F1 Synonymous SNV F71F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.993 6749 chr11 62886319 62886319 G C rs948060 SLC22A24 Nonsynonymous SNV L299V 0.858 0.836 0.81 327 1007 321 0.838 238 430 138 96 138 1.186 6750 chr1 228503677 228503677 A G rs1150912 OBSCN Nonsynonymous SNV H4381R 0.624 0.607 0.643 254 733 233 0.651 189 228 70 55 80 0.001 6751 chr11 5510540 5510540 - GGCT rs146317894 OR52D1 Frameshift insertion T204Afs*33 0.135 0.161 0.126 48 158 62 0.123 37 13 7 1 2 6752 chr11 62902172 62902172 A C rs1939782 SLC22A24 Synonymous SNV L157L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 6753 chr11 62910878 62910878 C T rs138722111 SLC22A24 Nonsynonymous SNV S125N 0.028 0.026 0.017 11 33 10 0.028 5 0 0 0 0 20.2 6754 chr1 228504472 228504472 T C rs1188732 OBSCN Nonsynonymous SNV C4450R 0.624 0.607 0.643 254 733 233 0.651 189 228 70 55 80 0.004 6755 chr1 228504670 228504670 C T rs11810627 OBSCN Nonsynonymous SNV R4516W 0.411 0.396 0.422 162 482 152 0.415 124 96 32 23 39 23.3 6756 chr11 62931484 62931484 T C rs6591771 SLC22A25 Nonsynonymous SNV M486V 0.469 0.443 0.415 190 551 170 0.487 122 131 35 28 41 0.001 6757 chr11 62951221 62951221 C G rs11231397 SLC22A25 Nonsynonymous SNV R300T 0.41 0.372 0.367 165 481 143 0.423 108 98 26 22 29 23.4 6758 chr1 228505668 228505668 C G rs1188729 OBSCN Nonsynonymous SNV S4642C 0.622 0.607 0.639 254 730 233 0.651 188 227 70 55 80 9.181 6759 chr11 62984868 62984868 T C rs11231409 SLC22A25 Nonsynonymous SNV S250G 0.413 0.38 0.367 166 485 146 0.426 108 99 26 22 29 0.001 6760 chr1 228505699 228505699 T C rs1188728 OBSCN Synonymous SNV G4652G 0.625 0.607 0.646 254 734 233 0.651 190 229 70 56 80 0.041 6761 chr1 228509427 228509427 A G rs373610 OBSCN Nonsynonymous SNV D4962G 0.626 0.607 0.643 254 735 233 0.651 189 230 70 55 80 0.626 6762 chr1 225273310 225273310 A - rs555051718 DNAH14 M1133Cfs*16 0.012 0.005 0.014 10 14 2 0.026 4 0 0 0 0 6763 chr11 62996801 62996801 C T rs35740247 SLC22A25 Synonymous SNV T108T 0.028 0.029 0.017 14 33 11 0.036 5 0 0 0 0 8.707 6764 chr11 551235 551235 G A rs35537971 LRRC56 Synonymous SNV P243P 0.192 0.242 0.241 75 225 93 0.192 71 21 15 5 7 5.284 6765 chr1 225446838 225446838 G A rs41303311 DNAH14 Nonsynonymous SNV G2347E 0.028 0.036 0.037 14 33 14 0.036 11 1 1 0 1 28.2 6766 chr11 63069906 63069906 T A rs56260618 SLC22A10 Synonymous SNV V392V 0.027 0.029 0.017 11 32 11 0.028 5 0 0 0 0 0.069 6767 chr11 63256441 63256441 C G rs940611 PLAAT5 Nonsynonymous SNV A93P 0.028 0.018 0.037 14 33 7 0.036 11 0 0 1 0 0.002 6768 chr11 5364276 5364276 G A rs4910551 OR51B5 Nonsynonymous SNV P160L 0.371 0.417 0.361 170 436 160 0.436 106 79 33 14 32 0.005 6769 chr1 228520973 228520973 C G rs369909 OBSCN Nonsynonymous SNV L5269V 0.294 0.302 0.35 122 345 116 0.313 103 48 20 17 25 16.18 6770 chr11 63258416 63258416 T C rs10897424 PLAAT5 Nonsynonymous SNV S31G 0.993 0.984 0.997 387 1166 378 0.992 293 583 189 146 193 0.002 6771 chr11 5364450 5364450 A G rs11036912 OR51B5 Nonsynonymous SNV I102T 0.373 0.417 0.361 170 438 160 0.436 106 79 33 14 32 25.9 6772 chr1 228524961 228524961 C A rs3795808 OBSCN Synonymous SNV P5559P 0.291 0.302 0.347 119 342 116 0.305 102 48 20 17 25 13.52 6773 chr11 5529152 5529152 A G rs2234455 UBQLN3 Nonsynonymous SNV M546T 0.167 0.255 0.177 70 196 98 0.179 52 18 13 3 5 0.121 6774 chr11 63313644 63313644 T C rs584905 PLAAT4 Synonymous SNV V137V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.018 6775 chr1 228526665 228526665 T C rs505629 OBSCN Synonymous SNV A5732A 0.439 0.427 0.344 173 515 164 0.444 101 111 34 26 45 0.072 6776 chr11 6340525 6340525 A T rs12570 CAVIN3 Synonymous SNV A218A 0.651 0.607 0.704 267 764 233 0.685 207 249 72 72 89 5.3 6777 chr11 6340706 6340706 A G rs1051992 CAVIN3 Nonsynonymous SNV L158P 0.497 0.458 0.561 214 584 176 0.549 165 135 38 49 54 2.854 6778 chr1 228528563 228528563 C G rs1188710 OBSCN Nonsynonymous SNV Q5891E 0.445 0.44 0.452 178 523 169 0.456 133 115 37 27 46 4.616 6779 chr11 6341684 6341684 C G rs2682123 CAVIN3 Nonsynonymous SNV R8P 0.933 0.94 0.925 365 1095 361 0.936 272 515 170 130 171 15.12 6780 chr1 228547901 228547901 C T rs12035900 OBSCN Synonymous SNV D6436D 0.369 0.398 0.354 134 433 153 0.344 104 80 29 13 21 0.218 6781 chr11 55322539 55322539 G A rs12790125 OR4C15 Nonsynonymous SNV V199I 0.291 0.253 0.262 117 342 97 0.3 77 52 11 9 21 0.1 6782 chr1 228559994 228559994 C T rs500049 OBSCN Nonsynonymous SNV A7172V 0.565 0.56 0.524 222 663 215 0.569 154 194 63 37 62 21.3 6783 chr11 63487386 63487386 T C rs542998 RTN3 Nonsynonymous SNV V359A 0.819 0.82 0.776 303 961 315 0.777 228 390 129 88 120 0.001 6784 chr11 63675772 63675772 C T rs55767673 MARK2 Nonsynonymous SNV L604F 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 18.85 6785 chr1 228560139 228560139 A G rs498382 OBSCN Synonymous SNV S7220S 0.94 0.927 0.918 362 1104 356 0.928 270 518 165 124 171 0.266 6786 chr11 55339676 55339676 G T rs12800642 OR4C16 Nonsynonymous SNV V25L 0.29 0.25 0.262 117 340 96 0.3 77 53 11 9 21 0.012 6787 chr11 488609 488609 G T rs11539814 PTDSS2 Synonymous SNV T63T 0.01 0.005 0.024 8 12 2 0.021 7 0 0 0 0 11.84 6788 chr1 228560700 228560700 T C rs512253 OBSCN Synonymous SNV D7407D 0.699 0.682 0.653 268 821 262 0.687 192 286 92 60 96 0.007 6789 chr11 63681513 63681513 T C rs10897461 RCOR2 Synonymous SNV E268E 0.987 0.995 0.993 387 1159 382 0.992 292 573 190 145 192 0.005 6790 chr11 4903500 4903500 G A rs78644275 OR51T1 Nonsynonymous SNV R124H 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 24.1 6791 chr11 63713317 63713317 G A rs3740637 NAA40 Synonymous SNV K4K 0.381 0.43 0.398 156 447 165 0.4 117 80 37 25 31 15.14 6792 chr11 55339702 55339702 C T rs34100491 OR4C16 Synonymous SNV Y33Y 0.29 0.25 0.262 117 340 96 0.3 77 53 11 9 21 0.2 6793 chr1 228612838 228612838 G T rs2230656 H3-4 Synonymous SNV I63I 0.835 0.854 0.85 322 980 328 0.826 250 408 140 111 133 1.073 6794 chr11 63767186 63767186 A G rs709594 MACROD1 Synonymous SNV S238S 0.444 0.492 0.459 175 521 189 0.449 135 118 48 38 35 11.19 6795 chr1 228699477 228699477 T C rs6665115 BTNL10 Nonsynonymous SNV H61R 0.546 0.536 0.554 204 641 206 0.523 163 175 62 45 56 1.141 6796 chr11 4928841 4928841 T C rs7108225 OR51A7 Nonsynonymous SNV M81T 0.112 0.091 0.099 49 131 35 0.126 29 10 2 0 4 12.45 6797 chr11 63883985 63883985 T C rs614397 FLRT1 Synonymous SNV D82D 0.838 0.828 0.864 321 984 318 0.823 254 418 127 112 131 0.001 6798 chr11 63884027 63884027 C T rs614035 FLRT1 Synonymous SNV A96A 0.712 0.669 0.731 267 836 257 0.685 215 306 79 80 91 4.916 6799 chr1 229622162 229622162 A G rs1065675 NUP133 Synonymous SNV L486L 0.275 0.258 0.259 135 323 99 0.346 76 41 11 8 27 1.197 6800 chr11 63885305 63885305 C T rs3824854 FLRT1 Synonymous SNV P522P 0.157 0.169 0.231 59 184 65 0.151 68 14 8 11 3 9.988 6801 chr11 63885632 63885632 A G rs4379854 FLRT1 Synonymous SNV E631E 0.998 1 0.993 389 1172 384 0.997 292 586 192 145 194 0.145 6802 chr1 229623338 229623338 T C rs1065674 NUP133 Nonsynonymous SNV Q406R 0.274 0.258 0.259 134 322 99 0.344 76 40 11 8 27 0.011 6803 chr11 4936608 4936608 C G rs12419598 OR51G2 Nonsynonymous SNV E96Q 0.114 0.091 0.102 47 134 35 0.121 30 11 2 0 4 5.008 6804 chr11 63885704 63885704 C T rs677447 FLRT1 Synonymous SNV Y655Y 0.71 0.667 0.724 265 834 256 0.679 213 306 78 79 89 5.851 6805 chr11 63988102 63988102 C T rs3802933 FERMT3 Synonymous SNV L502L 0.156 0.174 0.228 60 183 67 0.154 67 14 8 11 3 Benign 11.81 6806 chr1 229631734 229631734 T C rs11805194 NUP133 Nonsynonymous SNV I294V 0.266 0.245 0.248 133 312 94 0.341 73 41 8 8 26 22.5 6807 chr11 63991801 63991801 T C rs1059440 TRPT1 Nonsynonymous SNV H172R 0.156 0.174 0.235 59 183 67 0.151 69 14 8 11 3 16.51 6808 chr1 229635521 229635521 A G rs10916495 NUP133 Synonymous SNV Y186Y 0.263 0.245 0.248 129 309 94 0.331 73 40 8 8 23 5.363 6809 chr1 229683264 229683264 G A rs3738187 ABCB10 Synonymous SNV S301S 0.277 0.258 0.269 134 325 99 0.344 79 42 11 9 27 10.89 6810 chr11 63997329 63997329 A G rs633561 NUDT22 Nonsynonymous SNV Q227R 0.995 0.99 0.99 385 1168 380 0.987 291 582 188 145 190 8.758 6811 chr1 229730452 229730452 G A rs2295625 TAF5L Synonymous SNV S454S 0.422 0.432 0.5 161 495 166 0.413 147 100 36 40 30 2.938 6812 chr1 226019653 226019653 G A rs1131873 EPHX1 Synonymous SNV K119K 0.126 0.13 0.143 46 148 50 0.118 42 8 4 4 0 16.99 6813 chr11 55371807 55371807 A T rs11230346 OR4C11 Nonsynonymous SNV L15I 0.382 0.346 0.354 150 449 133 0.385 104 159 47 37 54 15.77 6814 chr1 229772693 229772693 T G rs3811473 URB2 Nonsynonymous SNV V778G 0.49 0.497 0.544 186 575 191 0.477 160 138 50 47 40 0.095 6815 chr1 226352498 226352498 T G rs2306120 ACBD3 Nonsynonymous SNV E187D 0.595 0.542 0.602 236 698 208 0.605 177 203 59 52 72 14.81 6816 chr11 63997338 63997338 T C rs633557 NUDT22 Nonsynonymous SNV L230P 0.998 1 0.993 389 1172 384 0.997 292 586 192 145 194 11.7 6817 chr11 554047 554047 G A rs12793222 LRRC56 Nonsynonymous SNV R467Q 0.192 0.24 0.245 75 225 92 0.192 72 21 14 5 7 12.78 6818 chr11 64004692 64004692 C T rs12366035 VEGFB Synonymous SNV D136D 0.339 0.305 0.313 132 398 117 0.338 92 94 21 17 26 Benign 13.18 6819 chr1 229790048 229790048 A G rs7521953 URB2 Synonymous SNV R1430R 0.505 0.503 0.575 186 593 193 0.477 169 144 45 51 40 1.335 6820 chr11 64011441 64011441 T C rs654573 FKBP2 Synonymous SNV G123G 0.998 1 0.99 389 1172 384 0.997 291 586 192 145 194 3.536 6821 chr1 230384970 230384970 G A rs1923950 GALNT2 Synonymous SNV T248T 0.101 0.148 0.112 48 118 57 0.123 33 12 5 3 4 16.72 6822 chr1 226555302 226555302 A G rs1136410 PARP1 Nonsynonymous SNV V762A 0.122 0.115 0.156 49 143 44 0.126 46 12 2 6 5 32 6823 chr11 64022459 64022459 A G rs632439 PLCB3 Synonymous SNV P45P 0.998 1 0.993 389 1172 384 0.997 292 586 192 145 194 0.008 6824 chr1 230461079 230461079 G A rs2306813 PGBD5 Synonymous SNV C452C 0.116 0.102 0.116 46 136 39 0.118 34 6 2 3 1 11.02 6825 chr11 64023971 64023971 G A rs7943988 PLCB3 Synonymous SNV L207L 0.377 0.326 0.354 147 443 125 0.377 104 98 19 19 26 11.96 6826 chr1 230841687 230841687 T C rs7080 AGT Synonymous SNV L372L 0.92 0.885 0.932 342 1080 340 0.877 274 495 152 129 151 Benign 0.27 6827 chr1 230845794 230845794 A G rs699 AGT Nonsynonymous SNV M268T 0.492 0.432 0.425 194 578 166 0.497 125 139 30 26 46 Benign 0.001 6828 chr11 64026144 64026144 G A rs2244625 PLCB3 Synonymous SNV S337S 0.691 0.654 0.653 261 811 251 0.669 192 281 84 66 84 9.48 6829 chr1 226573364 226573364 A G rs1805414 PARP1 Synonymous SNV A284A 0.306 0.279 0.354 109 359 107 0.279 104 42 19 21 17 2.254 6830 chr11 64026685 64026685 C T rs28395882 PLCB3 Synonymous SNV S431S 0.343 0.286 0.33 132 403 110 0.338 97 96 20 19 26 11.32 6831 chr1 226589958 226589958 G A rs1805404 PARP1 Synonymous SNV D81D 0.122 0.115 0.156 50 143 44 0.128 46 12 2 6 5 11.04 6832 chr11 64034866 64034866 G A rs7938380 PLCB3 Synonymous SNV A1114A 0.137 0.161 0.173 54 161 62 0.138 51 12 5 6 1 12.8 6833 chr11 5364503 5364503 C A rs142870806 OR51B5 Nonsynonymous SNV W84C 0.014 0.021 0.003 8 17 8 0.021 1 0 1 0 0 22.7 6834 chr1 230898494 230898494 C T rs2282319 CAPN9 Synonymous SNV N103N 0.268 0.302 0.286 102 315 116 0.262 84 42 19 10 11 15.47 6835 chr11 5475118 5475118 A G rs12577167 OR51I2 Nonsynonymous SNV T134A 0.18 0.18 0.194 70 211 69 0.179 57 19 4 3 9 8.25 6836 chr11 64066859 64066859 G A rs2232417 KCNK4 Synonymous SNV T281T 0.978 0.979 0.966 379 1148 376 0.972 284 565 185 141 184 16.59 6837 chr1 230903350 230903350 T C rs3828126 CAPN9 Synonymous SNV T137T 0.229 0.253 0.224 83 269 97 0.213 66 24 15 4 10 3.057 6838 chr11 64068310 64068310 C T rs2286614 CATSPERZ Nonsynonymous SNV P68L 0.134 0.159 0.17 51 157 61 0.131 50 12 5 5 1 9.954 6839 chr11 5372751 5372751 A C rs4910755 OR51B6 Nonsynonymous SNV K5T 0.233 0.313 0.238 111 274 120 0.285 70 35 19 7 14 0.002 6840 chr1 230910339 230910339 G A rs7517389 CAPN9 Synonymous SNV K242K 0.117 0.133 0.099 41 137 51 0.105 29 13 0 0 2 12.9 6841 chr11 4881102 4881102 G A rs117385480 OR51H1 Synonymous SNV V231V 0.004 0.016 0.01 2 5 6 0.005 3 0 0 0 0 10.42 6842 chr1 231042732 231042732 T A rs3811502 TTC13 Synonymous SNV V780V 0.405 0.448 0.439 165 476 172 0.423 129 106 44 26 39 11.26 6843 chr11 64085785 64085785 A G rs7938623 PRDX5 Nonsynonymous SNV Y33C 0.997 1 0.993 389 1170 384 0.997 292 584 192 145 194 0.115 6844 chr11 5372856 5372856 A G rs4910756 OR51B6 Nonsynonymous SNV N40S 0.188 0.234 0.167 87 221 90 0.223 49 24 10 5 11 23.5 6845 chr11 489920 489920 G A rs1054974526 PTDSS2 Nonsynonymous SNV V176M 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 23.8 6846 chr1 231401902 231401902 G A rs574553 GNPAT Synonymous SNV E244E 0.569 0.563 0.565 227 668 216 0.582 166 187 66 47 65 Benign 1.583 6847 chr1 231408091 231408091 A G rs11558492 GNPAT Nonsynonymous SNV D458G 0.219 0.221 0.252 95 257 85 0.244 74 31 11 10 13 Benign 17.87 6848 chr11 490423 490423 C T rs11539813 PTDSS2 Synonymous SNV D226D 0.01 0.005 0.017 1 12 2 0.003 5 0 0 0 0 11.26 6849 chr11 64109316 64109395 GTTGTGGTCTGAGGTCTTGGGCCATCAGTGATGTCACAACCAGATGGCCCAAGACCCCAGACCACAACCCCATGTCTGGT - MIR7155 0 0 0.293 0 0 0 0 86 0 0 0 0 6850 chr11 55579255 55579255 T C OR5L1 Nonsynonymous SNV C105R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.82 6851 chr11 64111794 64111794 G A rs74511597 CCDC88B Nonsynonymous SNV R594H 0.01 0.013 0.037 6 12 5 0.015 11 0 0 0 0 0.001 6852 chr1 226924642 226924642 C T rs3754415 ITPKB Nonsynonymous SNV R173H 0.272 0.313 0.262 123 319 120 0.315 77 45 18 10 18 32 6853 chr1 231557255 231557255 C G rs12097901 EGLN1 Nonsynonymous SNV C127S 0.068 0.083 0.024 34 80 32 0.087 7 5 4 1 2 Benign 0.053 6854 chr11 64111928 64111928 T C rs685870 CCDC88B Nonsynonymous SNV W639R 0.688 0.643 0.653 262 808 247 0.672 192 293 87 66 88 0.002 6855 chr11 5373006 5373006 T C rs7483122 OR51B6 Nonsynonymous SNV I90T 0.233 0.313 0.238 111 274 120 0.285 70 35 19 7 14 18.43 6856 chr11 5373104 5373104 A G rs5006889 OR51B6 Nonsynonymous SNV T123A 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 0.011 6857 chr1 231830295 231830295 G A rs3738401 DISC1 Nonsynonymous SNV R264Q 0.328 0.365 0.299 125 385 140 0.321 88 58 24 14 18 not provided 0.033 6858 chr11 64116843 64116843 A C rs1318165 CCDC88B Nonsynonymous SNV D886A 0.989 0.995 0.973 389 1161 382 0.997 286 580 191 142 194 2.068 6859 chr11 5373111 5373111 G A rs7479477 OR51B6 Nonsynonymous SNV R125H 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 0.475 6860 chr11 6411931 6411942 CTGGTGCTGGCG - rs550365194 SMPD1 V36_L39del 0.059 0.057 0.068 24 69 22 0.062 20 0 2 0 0 6861 chr1 231906589 231906589 C T rs2492367 DISC1 Synonymous SNV I119I 0.138 0.122 0.092 47 162 47 0.121 27 11 2 1 3 20.4 6862 chr11 55607057 55607057 C T rs61896326 OR5D16 Nonsynonymous SNV S277F 0.077 0.057 0.027 22 90 22 0.056 8 0 2 0 0 23.2 6863 chr11 6411936 6411941 GCTGGC - rs3838786 SMPD1 A48_L49del 0.182 0.227 0.16 54 214 87 0.138 47 86 39 19 21 6864 chr1 231953994 231953994 C G rs6672782 DISC2 0.08 0.047 0.058 37 94 18 0.095 17 7 2 1 5 1.709 6865 chr11 64119681 64119681 C T rs148331635 CCDC88B Nonsynonymous SNV A1060V 0.01 0.013 0.034 6 12 5 0.015 10 0 0 0 0 15.67 6866 chr1 231954101 231954101 C T rs6675281 DISC1 Nonsynonymous SNV L485F 0.113 0.086 0.105 56 133 33 0.144 31 7 2 1 5 not provided 28.8 6867 chr11 6415463 6415463 G A rs1050239 SMPD1 Nonsynonymous SNV G464R 0.18 0.19 0.153 65 211 73 0.167 45 19 8 6 5 Benign/Likely benign 22.6 6868 chr11 5373129 5373129 C T rs5006887 OR51B6 Nonsynonymous SNV T131I 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 14.61 6869 chr11 4945357 4945358 TG - rs145179083 OR51G1 T71Rfs*19 0.005 0.021 0.01 2 6 8 0.005 3 0 0 0 0 6870 chr1 232600645 232600645 G A SIPA1L2 Nonsynonymous SNV L921F 0.02 0.018 0 5 23 7 0.013 0 0 0 0 0 23.8 6871 chr11 6415690 6415690 G A rs35098198 SMPD1 Synonymous SNV S539S 0.024 0.023 0.031 9 28 9 0.023 9 0 0 0 0 Benign 12.03 6872 chr11 5373170 5373170 C G rs5006886 OR51B6 Nonsynonymous SNV R145G 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 6.797 6873 chr1 232650750 232650750 A G rs3795366 SIPA1L2 Synonymous SNV S112S 0.943 0.935 0.949 363 1107 359 0.931 279 520 169 133 169 0.002 6874 chr11 64323613 64323613 C T rs35008345 SLC22A11 Stop gain R48X 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 35 6875 chr1 232650867 232650867 C T rs4649383 SIPA1L2 Synonymous SNV K73K 0.749 0.732 0.718 275 879 281 0.705 211 326 103 80 97 11.25 6876 chr11 5010915 5010915 C T rs35365239 MMP26 Nonsynonymous SNV S46L 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Likely benign 0.657 6877 chr11 64331881 64331881 C T SLC22A11 Nonsynonymous SNV A308V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.973 6878 chr11 55681149 55681149 G C rs62639688 OR5W2 Nonsynonymous SNV L304V 0.052 0.042 0.051 17 61 16 0.044 15 0 2 0 0 0.001 6879 chr11 5373242 5373242 T G rs5006885 OR51B6 Nonsynonymous SNV S169A 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 6.837 6880 chr1 232941153 232941153 C T rs12409898 MAP10 Synonymous SNV F128F 0.726 0.732 0.677 274 852 281 0.703 199 300 103 67 93 15.57 6881 chr11 64359286 64359286 C T rs3825016 SLC22A12 Synonymous SNV H86H 0.709 0.742 0.721 275 832 285 0.705 212 305 102 77 93 Benign 1.775 6882 chr1 233122127 233122127 C T rs41309639 PCNX2 Nonsynonymous SNV R1984Q 0.187 0.193 0.167 93 220 74 0.238 49 26 4 1 13 9.952 6883 chr11 5373251 5373251 C T rs5006884 OR51B6 Nonsynonymous SNV L172F 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 23.5 6884 chr11 64360274 64360274 T C rs11231825 SLC22A12 Synonymous SNV H142H 0.709 0.742 0.721 274 832 285 0.703 212 305 102 77 92 Benign 0.104 6885 chr11 55681336 55681336 G A rs11231529 OR5W2 Synonymous SNV C241C 0.371 0.372 0.381 142 435 143 0.364 112 76 26 22 27 0.058 6886 chr11 64367325 64367325 A G rs1630320 SLC22A12 Synonymous SNV A308A 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 Benign 0.009 6887 chr11 55681375 55681375 T G rs17511601 OR5W2 Synonymous SNV I228I 0.077 0.057 0.054 22 90 22 0.056 16 0 2 0 0 0.062 6888 chr1 233134086 233134086 C T rs56231757 PCNX2 Nonsynonymous SNV S1901N 0.26 0.255 0.207 109 305 98 0.279 61 41 11 6 15 7.602 6889 chr11 64367862 64367862 T C rs7932775 SLC22A12 Synonymous SNV L329L 0.208 0.167 0.177 67 244 64 0.172 52 28 3 6 5 Benign 0.024 6890 chr11 5373311 5373311 T C rs5006883 OR51B6 Nonsynonymous SNV F192L 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 12.92 6891 chr1 228113163 228113163 A G rs3795768 WNT9A Synonymous SNV A51A 0.641 0.596 0.667 263 753 229 0.674 196 252 74 61 87 5.959 6892 chr11 55681416 55681416 A G rs17596422 OR5W2 Nonsynonymous SNV F215L 0.077 0.057 0.054 22 90 22 0.056 16 0 2 0 0 2.323 6893 chr11 64415767 64415767 G A rs3825074 NRXN2 Synonymous SNV G1069G 0.129 0.091 0.099 30 151 35 0.077 29 14 0 2 1 Likely benign 16.46 6894 chr1 233514934 233514934 G A rs3795375 MAP3K21 Nonsynonymous SNV V728I 0.221 0.229 0.184 84 260 88 0.215 54 30 12 6 10 8.149 6895 chr11 64418900 64418900 G A rs526338 NRXN2 Synonymous SNV I875I 0.707 0.75 0.701 272 830 288 0.697 206 303 104 73 91 Likely benign 14.73 6896 chr11 5373334 5373334 A G rs5006882 OR51B6 Synonymous SNV V199V 0.233 0.31 0.238 111 273 119 0.285 70 35 19 7 14 0.008 6897 chr11 64480641 64480641 G A rs2518907 NRXN2 Synonymous SNV G177G 0.77 0.826 0.704 310 904 317 0.795 207 357 129 77 120 Likely benign 11.01 6898 chr11 5373562 5373562 C A rs5024042 OR51B6 Nonsynonymous SNV S275R 0.233 0.31 0.235 111 273 119 0.285 69 35 19 7 14 25.3 6899 chr11 64480930 64480930 A T rs12273892 NRXN2 Nonsynonymous SNV L81Q 0.149 0.107 0.109 31 175 41 0.079 32 18 2 2 0 Likely benign 9.559 6900 chr1 233514975 233514975 G T rs3795374 MAP3K21 Nonsynonymous SNV E741D 0.221 0.229 0.184 84 260 88 0.215 54 30 12 6 10 22.7 6901 chr11 55681580 55681580 A G rs17596519 OR5W2 Nonsynonymous SNV M160T 0.077 0.057 0.054 22 90 22 0.056 16 0 2 0 0 0.001 6902 chr11 64572018 64572018 T C rs2959656 MEN1 Nonsynonymous SNV T546A 0.98 0.995 0.98 383 1150 382 0.982 288 563 190 142 188 Benign 0.03 6903 chr1 233515071 233515071 C T rs963982 MAP3K21 Synonymous SNV S773S 0.221 0.229 0.184 84 260 88 0.215 54 30 12 6 10 19.66 6904 chr11 55681942 55681942 G T rs17511797 OR5W2 Nonsynonymous SNV F39L 0.077 0.057 0.051 22 90 22 0.056 15 0 2 0 0 0.001 6905 chr1 233515102 233515102 T G rs963981 MAP3K21 Nonsynonymous SNV C784G 0.221 0.229 0.184 84 260 88 0.215 54 30 12 6 10 0.057 6906 chr11 5536415 5536415 C T rs10769023 UBQLNL Synonymous SNV E419E 0.261 0.237 0.259 98 306 91 0.251 76 46 19 12 11 0.375 6907 chr11 64572557 64572557 A G rs540012 MEN1 Synonymous SNV H438H 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 0.108 6908 chr11 64591972 64591972 T C rs10792447 CDC42BPG Synonymous SNV L1543L 0.666 0.724 0.69 256 782 278 0.656 203 264 108 72 78 5.956 6909 chr1 233515413 233515413 G A rs1402815 MAP3K21 Synonymous SNV P887P 0.246 0.286 0.299 101 289 110 0.259 88 38 19 17 13 7.568 6910 chr11 64597506 64597506 T C rs3741395 CDC42BPG Nonsynonymous SNV Q1135R 0.62 0.672 0.609 236 728 258 0.605 179 225 93 56 61 7.062 6911 chr11 55702961 55702961 C T rs9665861 OR5I1 Nonsynonymous SNV V306I 0.076 0.057 0.027 22 89 22 0.056 8 0 2 0 0 1.569 6912 chr11 5475170 5475170 G C rs16931292 OR51I2 Nonsynonymous SNV R151P 0.151 0.156 0.136 50 177 60 0.128 40 13 4 5 3 23.2 6913 chr1 234509259 234509259 G C rs10910420 COA6 Nonsynonymous SNV S16T 0.602 0.565 0.551 255 707 217 0.654 162 216 67 45 82 Benign 3.681 6914 chr11 64621856 64621856 A G rs3897618 EHD1 Synonymous SNV P518P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.168 6915 chr11 55703010 55703010 C A rs9665863 OR5I1 Synonymous SNV P289P 0.077 0.057 0.051 22 90 22 0.056 15 0 2 0 0 13.05 6916 chr11 64622869 64622869 G C rs10897533 EHD1 Synonymous SNV L335L 0.876 0.885 0.823 326 1029 340 0.836 242 452 149 99 132 13.16 6917 chr1 234529552 234529552 C T rs2175594 TARBP1 Synonymous SNV A1425A 0.45 0.417 0.395 180 528 160 0.462 116 114 33 22 42 11.59 6918 chr11 5475506 5475506 G A rs11037502 OR51I2 Nonsynonymous SNV R263H 0.147 0.156 0.133 49 172 60 0.126 39 12 4 4 2 25.7 6919 chr11 5536852 5536852 A G rs2017434 UBQLNL Nonsynonymous SNV Y274H 0.266 0.24 0.262 98 312 92 0.251 77 48 19 12 11 2.786 6920 chr11 64645871 64645871 A G rs1211284 EHD1 Synonymous SNV A22A 0.87 0.885 0.83 327 1021 340 0.838 244 445 149 102 133 8.659 6921 chr11 55703247 55703247 G A rs4465383 OR5I1 Synonymous SNV I210I 0.148 0.135 0.136 52 174 52 0.133 40 8 6 3 2 7.177 6922 chr1 234529570 234529570 G A rs2175593 TARBP1 Synonymous SNV V1419V 0.447 0.414 0.388 180 525 159 0.462 114 114 33 22 42 6.896 6923 chr11 64677293 64677293 G C rs656195 ATG2A Nonsynonymous SNV P656R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.33 6924 chr11 55703650 55703650 A G rs9666086 OR5I1 Nonsynonymous SNV F76S 0.077 0.057 0.054 22 90 22 0.056 16 0 2 0 0 2.049 6925 chr11 5475608 5475608 A T OR51I2 Nonsynonymous SNV K297M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24 6926 chr1 234546245 234546245 C T rs1141264 TARBP1 Synonymous SNV T1246T 0.377 0.357 0.116 161 443 137 0.413 34 77 26 13 30 18.17 6927 chr11 5537045 5537045 T G rs872751 UBQLNL Synonymous SNV P209P 0.266 0.24 0.262 98 312 92 0.251 77 48 19 12 11 0.01 6928 chr1 234582651 234582651 T C rs4920246 TARBP1 Nonsynonymous SNV S678G 0.259 0.31 0.33 100 304 119 0.256 97 44 18 15 16 0.018 6929 chr11 549946 549946 C T rs61747447 LRRC56 Nonsynonymous SNV A124V 0.007 0.013 0.024 7 8 5 0.018 7 0 0 0 0 25.1 6930 chr11 64680819 64680819 G A rs618006 ATG2A Synonymous SNV D215D 0.694 0.714 0.616 279 815 274 0.715 181 286 93 65 96 12.99 6931 chr11 55703766 55703766 A G rs17597589 OR5I1 Synonymous SNV Y37Y 0.077 0.057 0.054 22 90 22 0.056 16 0 2 0 0 0.002 6932 chr11 5537161 5537161 A G rs2047456 UBQLNL Nonsynonymous SNV C171R 0.263 0.24 0.262 98 309 92 0.251 77 48 19 12 11 0.001 6933 chr11 55703861 55703861 T C rs17597625 OR5I1 Nonsynonymous SNV R6G 0.077 0.055 0.051 22 90 21 0.056 15 0 2 0 0 5.098 6934 chr1 234584231 234584231 C T rs2102596 TARBP1 Synonymous SNV Q652Q 0.257 0.31 0.33 100 302 119 0.256 97 44 18 15 16 8.082 6935 chr11 64764371 64764371 C T rs12419103 BATF2 Nonsynonymous SNV G6S 0.036 0.034 0.027 10 42 13 0.026 8 0 0 0 0 7.627 6936 chr1 234743237 234743237 G A rs7543281 IRF2BP2 Synonymous SNV G454G 0.118 0.12 0.15 57 139 46 0.146 44 7 2 4 3 Benign 8.09 6937 chr11 55735106 55735106 A G rs61896163 OR10AG1 Synonymous SNV P278P 0.08 0.065 0.048 23 94 25 0.059 14 0 2 0 0 0.008 6938 chr11 64789194 64789194 T C rs664226 ARL2 Nonsynonymous SNV V114A 0.64 0.68 0.633 265 751 261 0.679 186 236 91 63 85 9.047 6939 chr1 234744480 234744480 G A rs11502 IRF2BP2 Nonsynonymous SNV A254V 0.094 0.115 0.078 46 110 44 0.118 23 6 2 1 7 11.14 6940 chr11 55735280 55735280 T A rs61896164 OR10AG1 Synonymous SNV S220S 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 9.495 6941 chr11 55735518 55735518 G A rs61896165 OR10AG1 Nonsynonymous SNV T141I 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 0.038 6942 chr11 5424430 5424430 A G rs7929412 OR51J1 Nonsynonymous SNV I202V 0.152 0.195 0.133 76 178 75 0.195 39 14 8 3 8 14.56 6943 chr1 234745009 234745009 A G rs7545855 IRF2BP2 Nonsynonymous SNV S78P 0.752 0.742 0.656 301 883 285 0.772 193 355 115 75 120 Benign 0.01 6944 chr11 64794918 64794918 - G rs3832791 ARL2-SNX15 0.768 0.766 0.735 319 902 294 0.818 216 343 117 81 128 6945 chr11 5510424 5510426 TCT - rs35986511 OR52D1 F164del 0.026 0.042 0.037 11 30 16 0.028 11 0 0 0 0 6946 chr11 64799998 64799998 T C rs534236 SNX15 Synonymous SNV P77P 0.7 0.727 0.677 277 822 279 0.71 199 282 104 69 93 0.1 6947 chr11 5424701 5424701 T C rs16930511 OR51J1 Nonsynonymous SNV I292T 0.09 0.099 0.085 31 106 38 0.079 25 4 2 2 0 24.7 6948 chr11 55735579 55735579 A G rs61896166 OR10AG1 Synonymous SNV L121L 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 0.008 6949 chr11 64807294 64807294 G A rs653111 ARL2-SNX15 0.693 0.716 0.663 270 813 275 0.692 195 278 101 68 87 3.928 6950 chr1 235324298 235324298 T C rs2295815 RBM34 Synonymous SNV E46E 0.122 0.125 0.112 54 143 48 0.138 33 8 3 0 7 0.032 6951 chr11 55735649 55735649 C A rs61896167 OR10AG1 Nonsynonymous SNV M97I 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 0.004 6952 chr11 64809090 64809090 T G rs12271134 SAC3D1 Nonsynonymous SNV L109R 1 1 0.918 389 1174 384 0.997 270 587 192 134 194 10.4 6953 chr1 235383188 235383188 A G rs4659654 ARID4B Synonymous SNV D501D 0.45 0.419 0.405 173 528 161 0.444 119 126 35 27 41 0.238 6954 chr11 55735808 55735808 G A rs78226543 OR10AG1 Synonymous SNV P44P 0.08 0.065 0.044 24 94 25 0.062 13 0 2 0 0 6.717 6955 chr1 235392546 235392546 T C rs12731746 ARID4B Synonymous SNV E299E 0.455 0.424 0.279 174 534 163 0.446 82 124 35 25 40 12.68 6956 chr11 64855986 64855986 A G rs2282498 TMEM262 Nonsynonymous SNV V87A 0.436 0.44 0.412 175 512 169 0.449 121 111 35 24 36 24.3 6957 chr1 235715523 235715523 A G rs14326 GNG4 Synonymous SNV A38A 0.408 0.414 0.442 142 479 159 0.364 130 101 29 25 26 9.879 6958 chr11 55735813 55735813 G C rs80245253 OR10AG1 Nonsynonymous SNV H43D 0.079 0.065 0.044 23 93 25 0.059 13 0 2 0 0 0.002 6959 chr1 228461187 228461187 T C rs185495392 OBSCN Synonymous SNV D2067D 0.019 0.018 0.024 8 22 7 0.021 7 0 0 0 0 1.608 6960 chr11 64856483 64856483 G A rs55855381 TMEM262 Synonymous SNV I7I 0.066 0.081 0.054 17 78 31 0.044 16 2 0 0 0 3.095 6961 chr1 235940450 235940450 C T rs2273584 LYST Synonymous SNV K1791K 0.367 0.388 0.35 171 431 149 0.438 103 86 27 22 30 Benign 11.85 6962 chr11 64856500 64856500 A G rs525781 TMEM262 Nonsynonymous SNV W2R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.06 6963 chr11 55735848 55735848 A G rs75026138 OR10AG1 Nonsynonymous SNV M31T 0.08 0.065 0.048 24 94 25 0.062 14 0 2 0 0 0.361 6964 chr1 235945294 235945294 T C rs6696123 LYST Synonymous SNV L1652L 0.367 0.388 0.35 170 431 149 0.436 103 86 27 22 29 Benign 5.308 6965 chr11 64880090 64880090 G C rs4930284 TM7SF2 Synonymous SNV P52P 0.98 0.964 0.895 381 1150 370 0.977 263 575 185 131 190 1.041 6966 chr1 235972435 235972435 T C rs3820553 LYST Synonymous SNV L561L 0.367 0.388 0.35 172 431 149 0.441 103 86 27 22 30 Benign 0.003 6967 chr11 64882789 64882789 C T rs1129195 TM7SF2 Nonsynonymous SNV T299I 0.462 0.451 0.435 190 542 173 0.487 128 126 37 25 45 7.486 6968 chr11 55735857 55735857 A G rs76700680 OR10AG1 Nonsynonymous SNV M28T 0.08 0.065 0.048 24 94 25 0.062 14 0 2 0 0 0.007 6969 chr1 235972867 235972867 T C rs1063128 LYST Synonymous SNV Q417Q 0.367 0.388 0.354 171 431 149 0.438 104 86 27 22 29 Benign 0.003 6970 chr11 64884052 64884052 G A rs1546532 ZNHIT2 Synonymous SNV A358A 0.957 0.979 0.956 366 1123 376 0.938 281 537 184 134 171 1.339 6971 chr1 236144919 236144919 G T rs145820513 NID1 Synonymous SNV S1073S 0.023 0.008 0 4 27 3 0.01 0 0 0 0 0 Benign 8.998 6972 chr11 5246948 5246948 G A rs193922562 HBB Synonymous SNV G108G 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.99 6973 chr11 64972286 64972286 G C rs10895991 CAPN1 Nonsynonymous SNV R433P 0.14 0.148 0.133 51 164 57 0.131 39 9 1 1 4 27.7 6974 chr1 236175339 236175339 T C rs2031487 NID1 Synonymous SNV V803V 0.402 0.409 0.412 140 472 157 0.359 121 94 33 19 28 10.48 6975 chr1 236381825 236381825 G C rs1055851 ERO1B Nonsynonymous SNV H465Q 0.353 0.315 0.228 152 414 121 0.39 67 88 27 11 36 13.98 6976 chr11 64981472 64981472 G C rs239258 SLC22A20P 0.503 0.523 0.541 205 591 201 0.526 159 142 55 44 51 7.063 6977 chr11 55761256 55761256 A G rs77110658 OR5F1 Synonymous SNV I282I 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 1.053 6978 chr1 228473981 228473981 G A rs565525439 OBSCN Synonymous SNV A3069A 0 0.008 0 2 0 3 0.005 0 0 0 0 0 12.85 6979 chr11 64981853 64981853 G T rs239259 SLC22A20P 0.466 0.49 0.405 184 547 188 0.472 119 116 50 34 43 7.709 6980 chr11 55761281 55761281 G A rs80272096 OR5F1 Nonsynonymous SNV A274V 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 1.699 6981 chr11 64990041 64990041 G C rs514076 SLC22A20P 0.804 0.841 0.779 303 944 323 0.777 229 380 133 89 119 12.98 6982 chr1 236389999 236389999 C T rs10924790 ERO1B Synonymous SNV S251S 0.048 0.034 0.003 13 56 13 0.033 1 0 1 0 0 16.26 6983 chr1 228481917 228481917 G A rs55702382 OBSCN Synonymous SNV T3732T 0.014 0.021 0.024 8 17 8 0.021 7 0 0 0 0 5.273 6984 chr11 65000719 65000719 C T rs2904979 SLC22A20P 0 0 0.922 0 0 0 0 271 0 0 125 0 13.65 6985 chr1 236557771 236557771 G A rs966365 EDARADD Nonsynonymous SNV M9I 0.836 0.826 0.85 327 982 317 0.838 250 410 134 107 139 Benign 3.346 6986 chr11 65004301 65004301 G T rs2904982 SLC22A20P 0 0 0.908 0 0 0 0 267 0 0 120 0 9.131 6987 chr11 65004309 65004309 C T rs564476 SLC22A20P 0 0 0.129 0 0 0 0 38 0 0 0 0 6.138 6988 chr11 55761786 55761786 A C rs61888467 OR5F1 Nonsynonymous SNV S106A 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 0.001 6989 chr11 65144075 65144075 T C rs624307 SLC25A45 Nonsynonymous SNV M200V 0.998 1 0.997 385 1172 384 0.987 293 585 192 146 190 6.973 6990 chr1 236700807 236700807 T A rs1126407 LGALS8 Nonsynonymous SNV F19Y 0.582 0.589 0.548 229 683 226 0.587 161 197 64 38 67 12.97 6991 chr11 55762060 55762060 T C rs71490418 OR5F1 Synonymous SNV L14L 0.251 0.227 0.221 104 295 87 0.267 65 32 8 5 17 0.584 6992 chr11 65161129 65161129 C T rs2073800 FRMD8 Synonymous SNV D57D 0.496 0.487 0.517 188 582 187 0.482 152 137 38 37 46 11.33 6993 chr1 236700823 236700823 T C rs1041934 LGALS8 Synonymous SNV P24P 0.582 0.589 0.548 229 683 226 0.587 161 197 64 38 67 7.01 6994 chr11 55798237 55798237 C T rs17528782 OR5AS1 Synonymous SNV L115L 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 11.98 6995 chr11 5462085 5462085 G A rs11037444 OR51I1 Synonymous SNV Y220Y 0.193 0.229 0.173 86 227 88 0.221 51 25 9 5 8 0.977 6996 chr11 6519642 6519642 G A rs11604149 DNHD1 Nonsynonymous SNV R66Q 0.496 0.49 0.486 207 582 188 0.531 143 145 48 37 59 9.118 6997 chr1 236700857 236700857 C T rs1041935 LGALS8 Nonsynonymous SNV R36C 0.583 0.589 0.548 230 684 226 0.59 161 198 64 38 68 26.1 6998 chr11 55798533 55798533 A C rs17528803 OR5AS1 Synonymous SNV V213V 0.08 0.065 0.054 24 94 25 0.062 16 0 2 0 0 0.011 6999 chr11 5462255 5462255 C G rs11037445 OR51I1 Nonsynonymous SNV V164L 0.193 0.229 0.173 86 227 88 0.221 51 25 9 5 8 0.493 7000 chr11 6520015 6520015 G T rs11040899 DNHD1 Synonymous SNV L190L 0.496 0.49 0.486 207 582 188 0.531 143 145 48 37 59 0.004 7001 chr11 55798761 55798761 T C rs61889974 OR5AS1 Synonymous SNV I289I 0.08 0.065 0.051 24 94 25 0.062 15 0 2 0 0 0.005 7002 chr1 236702209 236702209 C T rs1041936 LGALS8 Synonymous SNV S55S 0.537 0.534 0.364 216 630 205 0.554 107 167 52 26 57 17.94 7003 chr11 6520164 6520164 T A rs2555158 DNHD1 Nonsynonymous SNV V240E 0.514 0.518 0.52 211 604 199 0.541 153 159 52 42 63 0.007 7004 chr11 55798764 55798764 T C rs61889975 OR5AS1 Synonymous SNV Y290Y 0.08 0.065 0.051 24 94 25 0.062 15 0 2 0 0 0.002 7005 chr11 5475615 5475615 C T rs76300102 OR51I2 Synonymous SNV I299I 0.061 0.044 0.044 17 72 17 0.044 13 4 1 1 0 7.251 7006 chr1 236702210 236702210 A G rs1041937 LGALS8 Nonsynonymous SNV M56V 0.643 0.638 0.507 251 755 245 0.644 149 241 77 47 78 3.187 7007 chr11 55798823 55798823 A G rs17600939 OR5AS1 Nonsynonymous SNV Y310C 0.08 0.065 0.031 24 94 25 0.062 9 0 2 0 0 0.006 7008 chr11 6530278 6530278 C T rs10839568 DNHD1 Synonymous SNV F363F 0.317 0.294 0.252 131 372 113 0.336 74 54 16 7 26 14.86 7009 chr11 6532519 6532519 C T rs4758423 DNHD1 Nonsynonymous SNV H418Y 0.316 0.294 0.255 131 371 113 0.336 75 55 17 7 26 13.67 7010 chr1 236702374 236702374 G A rs2472126 LGALS8 Synonymous SNV L110L 0.518 0.513 0.432 208 608 197 0.533 127 154 43 26 53 5.562 7011 chr11 558165 558165 T G rs79820513 LMNTD2 Nonsynonymous SNV Q132P 0.113 0.156 0.119 36 133 60 0.092 35 9 5 3 2 14.64 7012 chr1 236706862 236706862 G C rs2243525 LGALS8 Nonsynonymous SNV R184S 0.673 0.664 0.643 266 790 255 0.682 189 261 85 61 91 1.763 7013 chr11 65325326 65325328 CAG - rs761360910 LTBP3 L35del 0.002 0 0.031 1 2 0 0.003 9 0 0 0 0 7014 chr11 65347636 65347636 G C rs1194100 EHBP1L1 Nonsynonymous SNV V133L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.948 7015 chr11 55861153 55861153 A G rs17603011 OR8I2 Nonsynonymous SNV I124V 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 0.003 7016 chr1 236711323 236711323 T C rs15701 LGALS8 Synonymous SNV Y272Y 0.582 0.591 0.527 229 683 227 0.587 155 197 65 38 67 1.374 7017 chr11 65349063 65349063 G A rs3741380 EHBP1L1 Nonsynonymous SNV R307Q 0.463 0.477 0.507 172 544 183 0.441 149 129 49 28 35 0.318 7018 chr11 55861278 55861278 T - rs138372442 OR8I2 L166Wfs*19 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 7019 chr1 236716959 236716959 C T rs2275685 HEATR1 Synonymous SNV S2053S 0.583 0.591 0.548 229 685 227 0.587 161 197 65 38 67 17.03 7020 chr11 55861297 55861297 A G rs117967749 OR8I2 Nonsynonymous SNV S172G 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 10.14 7021 chr11 65349756 65349756 T G rs6591182 EHBP1L1 Nonsynonymous SNV V538G 0.474 0.482 0.517 170 556 185 0.436 152 141 50 30 37 22.7 7022 chr1 236717926 236717926 T C rs2275687 HEATR1 Nonsynonymous SNV E2017G 0.589 0.594 0.551 231 692 228 0.592 162 203 66 39 69 25.7 7023 chr11 55111500 55111500 T C rs117538213 OR4A16 Nonsynonymous SNV I275T 0.034 0.021 0.02 9 40 8 0.023 6 1 0 0 0 14.27 7024 chr11 55861307 55861307 A - rs144690814 OR8I2 H175Lfs*10 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 7025 chr11 65349849 65349849 A T rs1194099 EHBP1L1 Nonsynonymous SNV D569V 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.003 7026 chr1 236718620 236718620 T C rs1126627 HEATR1 Nonsynonymous SNV N1967D 0.585 0.594 0.551 230 687 228 0.59 162 203 67 39 69 16.87 7027 chr11 55861484 55861484 A C rs61887096 OR8I2 Nonsynonymous SNV Q234P 0.08 0.065 0.054 23 94 25 0.059 16 0 2 0 0 11.55 7028 chr11 65351074 65351074 G A rs10896018 EHBP1L1 Synonymous SNV A977A 0.253 0.24 0.276 85 297 92 0.218 81 42 16 10 13 11.25 7029 chr1 236719135 236719135 T C rs1885532 HEATR1 Synonymous SNV E1873E 0.75 0.729 0.694 298 880 280 0.764 204 325 104 73 113 6.604 7030 chr11 65380916 65380916 G A rs2004649 MAP3K11 Synonymous SNV G104G 0.418 0.422 0.442 146 491 162 0.374 130 103 33 24 27 7.834 7031 chr11 55861650 55861650 C G rs61887097 OR8I2 Stop gain Y289X 0.08 0.065 0.051 23 94 25 0.059 15 0 2 0 0 31 7032 chr11 65383896 65383896 G C rs7947140 PCNX3 Synonymous SNV V38V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.07 7033 chr1 236719193 236719193 A G rs1885533 HEATR1 Nonsynonymous SNV V1854A 0.595 0.594 0.551 232 698 228 0.595 162 204 66 39 69 11.92 7034 chr11 65384727 65384727 C T rs12790427 PCNX3 Synonymous SNV P116P 0.19 0.206 0.173 72 223 79 0.185 51 19 12 8 6 16.41 7035 chr11 5080130 5080130 C T rs142926662 OR52E2 Nonsynonymous SNV G243D 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 26.3 7036 chr11 65385606 65385606 A G rs1151489 PCNX3 Nonsynonymous SNV Q258R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.332 7037 chr1 236721610 236721610 G A rs2275688 HEATR1 Synonymous SNV L1711L 0.652 0.643 0.609 252 765 247 0.646 179 246 79 53 79 10.39 7038 chr1 228558993 228558994 CA - rs536227878 OBSCN Stop gain S6839* 0.012 0.018 0.02 6 14 7 0.015 6 0 0 1 0 7039 chr11 55904751 55904751 T C rs1947923 OR8J3 Synonymous SNV T148T 0.081 0.065 0.061 23 95 25 0.059 18 0 2 0 0 0.014 7040 chr1 236721660 236721660 T C rs2275689 HEATR1 Nonsynonymous SNV N1694S 0.681 0.667 0.646 267 800 256 0.685 190 267 86 62 92 0.002 7041 chr11 65387378 65387378 T A rs61744384 PCNX3 Synonymous SNV A661A 0.463 0.461 0.48 164 543 177 0.421 141 124 39 31 32 11.89 7042 chr11 5372881 5372881 G A rs77135024 OR51B6 Synonymous SNV R48R 0.128 0.089 0.136 55 150 34 0.141 40 8 3 4 4 4.64 7043 chr11 55905025 55905025 T G rs1947924 OR8J3 Nonsynonymous SNV N57T 0.081 0.065 0.061 23 95 25 0.059 18 0 2 0 0 0.004 7044 chr11 65390965 65390965 G A rs371901206 PCNX3 Synonymous SNV T787T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.09 7045 chr11 653968 653968 T C rs10615 DEAF1 Synonymous SNV Q454Q 0.152 0.18 0.167 49 179 69 0.126 49 18 11 4 1 Benign 2.427 7046 chr11 5443969 5443969 A C rs58283839 OR51Q1 Nonsynonymous SNV Y180S 0.025 0.013 0.014 13 29 5 0.033 4 0 0 0 0 23.1 7047 chr11 56044050 56044050 A G rs148135770 OR5T1 Synonymous SNV A312A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 5.135 7048 chr1 236721731 236721731 T C rs819431 HEATR1 Synonymous SNV A1670A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.604 7049 chr11 65408937 65408937 C T rs3741378 SIPA1 Nonsynonymous SNV S182F 0.138 0.146 0.136 51 162 56 0.131 40 7 6 3 4 15.41 7050 chr11 55927442 55927442 T C rs61746523 OR8K5 Nonsynonymous SNV M118V 0.08 0.065 0.058 23 94 25 0.059 17 0 2 0 0 23.1 7051 chr11 5373497 5373497 G C rs7106330 OR51B6 Nonsynonymous SNV V254L 0.129 0.089 0.136 55 151 34 0.141 40 9 4 4 4 12.34 7052 chr1 236744712 236744712 C A rs4518892 HEATR1 Synonymous SNV V855V 0.533 0.56 0.514 213 626 215 0.546 151 195 66 36 67 14.21 7053 chr11 65412467 65412467 G A rs2306364 SIPA1 Synonymous SNV A342A 0.451 0.464 0.463 162 529 178 0.415 136 129 40 30 30 13.77 7054 chr11 55999737 55999737 G C rs7121880 OR5T2 Nonsynonymous SNV H309D 0.081 0.065 0.054 23 95 25 0.059 16 0 2 0 0 21.9 7055 chr11 5530705 5530705 C T rs1368694 UBQLN3 Synonymous SNV T28T 0.027 0.036 0.024 7 32 14 0.018 7 1 1 0 0 11.65 7056 chr11 65415028 65415028 T G rs4930157 SIPA1 Synonymous SNV T735T 1 0.995 0.963 389 1174 382 0.997 283 587 191 141 194 8.267 7057 chr1 236746443 236746443 C T rs2794768 HEATR1 Synonymous SNV V765V 0.583 0.596 0.565 228 684 229 0.585 166 206 70 42 69 7.705 7058 chr11 65417434 65417434 G A rs746429 SIPA1 Synonymous SNV A920A 0.336 0.362 0.34 122 394 139 0.313 100 72 25 12 19 9.74 7059 chr1 236748505 236748505 T C rs1006456 HEATR1 Synonymous SNV L687L 0.594 0.609 0.565 235 697 234 0.603 166 206 70 42 70 2.792 7060 chr11 55999897 55999897 G A rs7122000 OR5T2 Synonymous SNV I255I 0.08 0.065 0.058 23 94 25 0.059 17 0 2 0 0 6 7061 chr11 6549779 6549779 A C rs4633449 DNHD1 Nonsynonymous SNV D622A 0.693 0.698 0.711 257 814 268 0.659 209 280 92 71 87 0.012 7062 chr11 56000288 56000288 G A rs7122514 OR5T2 Nonsynonymous SNV T125M 0.082 0.068 0.054 23 96 26 0.059 16 0 2 0 0 6.106 7063 chr1 236749649 236749649 T C rs2794763 HEATR1 Nonsynonymous SNV M607V 0.535 0.531 0.463 208 628 204 0.533 136 167 48 27 55 16.16 7064 chr11 55322298 55322298 C T rs8181485 OR4C15 Synonymous SNV A118A 0.128 0.099 0.109 58 150 38 0.149 32 9 1 0 4 11.89 7065 chr11 55322638 55322638 C T rs12225462 OR4C15 Nonsynonymous SNV R232C 0.129 0.099 0.109 58 151 38 0.149 32 9 1 0 4 24.9 7066 chr11 6549995 6549995 A G rs7480644 DNHD1 Nonsynonymous SNV N694S 0.693 0.695 0.714 257 814 267 0.659 210 280 91 71 88 0.001 7067 chr11 56086195 56086195 G C rs774989251 OR8K3 Nonsynonymous SNV R138P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.175 7068 chr1 229461024 229461024 C T rs2282083 CCSAP Synonymous SNV P257P 0.368 0.385 0.401 133 432 148 0.341 118 81 34 24 21 12.06 7069 chr1 236755837 236755837 C T rs2564739 HEATR1 Synonymous SNV R430R 0.635 0.633 0.061 248 746 243 0.636 18 235 78 9 78 14.13 7070 chr1 229606536 229606536 G A rs376867486 NUP133 Nonsynonymous SNV R623C 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 29.5 7071 chr11 6550004 6550004 A G rs2344828 DNHD1 Nonsynonymous SNV Q697R 0.693 0.698 0.714 259 814 268 0.664 210 280 92 71 89 0.276 7072 chr1 236758887 236758887 T C rs2794751 HEATR1 Nonsynonymous SNV H348R 0.638 0.638 0.595 249 749 245 0.638 175 236 78 48 79 0.664 7073 chr11 56000471 56000471 G A rs11227599 OR5T2 Nonsynonymous SNV T64I 0.129 0.107 0.122 40 151 41 0.103 36 7 3 1 1 0.016 7074 chr11 6550309 6550309 G A rs2344829 DNHD1 Nonsynonymous SNV G769R 0.685 0.693 0.707 256 804 266 0.656 208 274 91 70 87 Benign 15.61 7075 chr1 236767330 236767330 A G rs10802551 HEATR1 Synonymous SNV S22S 0.633 0.615 0.561 253 743 236 0.649 165 233 68 45 79 7.574 7076 chr1 236882303 236882303 T C rs1341864 ACTN2 Synonymous SNV I117I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 3.043 7077 chr11 56000581 56000581 G A rs76457874 OR5T2 Synonymous SNV N27N 0.08 0.065 0.058 23 94 25 0.059 17 0 2 0 0 0.163 7078 chr11 65546857 65546857 A C rs610037 AP5B1 Synonymous SNV L369L 0.503 0.503 0.497 209 590 193 0.536 146 144 46 34 55 11.33 7079 chr1 236883421 236883421 C T rs1341863 ACTN2 Synonymous SNV N126N 0.991 0.997 0.986 383 1163 383 0.982 290 577 191 144 188 Benign 15.51 7080 chr11 56020244 56020244 T C rs61746551 OR5T3 Nonsynonymous SNV I190T 0.081 0.065 0.061 24 95 25 0.062 18 0 2 0 0 0.002 7081 chr11 65547333 65547333 G A rs12146493 AP5B1 Nonsynonymous SNV L211F 0.296 0.302 0.296 123 347 116 0.315 87 54 15 12 22 23.5 7082 chr1 237048500 237048500 A G rs1805087 MTR Nonsynonymous SNV D868G 0.167 0.167 0.207 64 196 64 0.164 61 17 4 6 7 Benign 23.5 7083 chr11 65547455 65547455 C A rs12362011 AP5B1 Nonsynonymous SNV G170V 0.114 0.12 0.15 45 134 46 0.115 44 6 4 6 4 24.2 7084 chr11 6555365 6555365 A G rs7103810 DNHD1 Nonsynonymous SNV D987G 0.91 0.891 0.871 338 1068 342 0.867 256 487 152 111 146 9.61 7085 chr11 5602275 5602275 A G rs1077126 OR52B6 Nonsynonymous SNV T57A 0.378 0.404 0.316 135 444 155 0.346 93 79 25 13 22 0.002 7086 chr11 56128081 56128081 A G rs10896290 OR8J1 Nonsynonymous SNV Y120C 0.368 0.359 0.378 148 432 138 0.379 111 78 22 20 33 22.6 7087 chr1 237054569 237054569 A G rs2229276 MTR Synonymous SNV A997A 0.379 0.331 0.299 153 445 127 0.392 88 89 26 8 31 Benign 0.626 7088 chr11 6561270 6561270 A G rs10839577 DNHD1 Synonymous SNV Q1195Q 0.326 0.326 0.296 135 383 125 0.346 87 61 19 11 27 0.017 7089 chr1 229787055 229787055 G A rs41310553 URB2 Nonsynonymous SNV R1408Q 0.026 0.031 0.017 15 30 12 0.038 5 1 0 0 0 24.9 7090 chr11 65628334 65628334 G A rs13817 MUS81 Nonsynonymous SNV R37H 0.706 0.758 0.762 260 829 291 0.667 224 296 107 86 84 23.5 7091 chr1 237058744 237058744 C A rs12070777 MTR Synonymous SNV R1113R 0.378 0.331 0.296 154 444 127 0.395 87 87 26 8 31 Benign 17.79 7092 chr11 5510598 5510598 A T rs7950082 OR52D1 Nonsynonymous SNV Y221F 0.141 0.117 0.163 55 166 45 0.141 48 8 2 2 4 24.6 7093 chr11 5602605 5602605 G A rs2341433 OR52B6 Nonsynonymous SNV A167T 0.377 0.404 0.313 135 443 155 0.346 92 79 25 13 22 0.113 7094 chr11 56143108 56143108 C G rs74639624 OR8U1, OR8U8 Nonsynonymous SNV H3Q 0.169 0.169 0 85 198 65 0.218 0 0 0 0 0 0.001 7095 chr1 237058828 237058828 C T rs1131449 MTR Synonymous SNV L1141L 0.509 0.461 0.49 208 598 177 0.533 144 152 41 33 56 Benign 12.77 7096 chr11 65629932 65629932 T C rs659857 MUS81 Synonymous SNV A179A 0.703 0.758 0.765 259 825 291 0.664 225 295 107 85 84 2.709 7097 chr1 237617757 237617757 C T rs3765097 RYR2 Synonymous SNV S453S 0.541 0.531 0.48 199 635 204 0.51 141 181 54 29 51 Benign 10.2 7098 chr11 56143125 56143125 C T rs74467122 OR8U1, OR8U8 Nonsynonymous SNV A9V 0.315 0.333 0.037 114 370 128 0.292 11 0 0 0 0 0.017 7099 chr11 65629934 65629934 G C rs545500 MUS81 Nonsynonymous SNV R180P 0.703 0.758 0.765 259 825 291 0.664 225 295 107 85 84 15.8 7100 chr11 55406022 55406022 C G rs76160133 OR4P4 Stop gain Y63X 0.172 0.138 0.156 77 202 53 0.197 46 59 15 14 23 25.6 7101 chr1 237711797 237711797 A G rs2253273 RYR2 Synonymous SNV S991S 0.951 0.953 0.935 367 1116 366 0.941 275 530 175 128 173 Benign 0.213 7102 chr1 230814668 230814668 A G rs11558606 COG2 Nonsynonymous SNV I346V 0.072 0.099 0.061 37 85 38 0.095 18 4 3 2 2 2.167 7103 chr1 237801770 237801770 T C rs707189 RYR2 Synonymous SNV L2302L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 8.433 7104 chr11 65631167 65631167 C T rs648732 MUS81 Synonymous SNV A312A 0.706 0.758 0.765 260 829 291 0.667 225 296 107 85 84 9.338 7105 chr1 237863718 237863718 T G rs2797436 RYR2 Synonymous SNV S3106S 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 Benign 6.056 7106 chr11 559466 559466 C A rs117460484 LMNTD2-AS1 0.061 0.057 0.058 24 72 22 0.062 17 1 1 1 2 7.539 7107 chr11 65631973 65631973 G A rs630303 MUS81 Synonymous SNV R356R 0.706 0.758 0.765 260 829 291 0.667 225 296 107 85 84 Benign 0.75 7108 chr1 230829139 230829139 A G rs1051038 COG2 Synonymous SNV X738X 0.218 0.169 0.184 73 256 65 0.187 54 23 3 3 6 2.436 7109 chr11 56000066 56000066 G A rs62621278 OR5T2 Nonsynonymous SNV T199I 0.053 0.068 0.065 18 62 26 0.046 19 2 1 1 0 22.9 7110 chr1 237881770 237881770 C T rs2797441 RYR2 Synonymous SNV T3501T 0.998 0.997 0.986 389 1172 383 0.997 290 585 191 144 194 Benign 18.06 7111 chr11 55418693 55418693 T C rs11230541 OR4S2 Nonsynonymous SNV F105S 0.174 0.138 0.156 78 204 53 0.2 46 60 15 14 23 26.5 7112 chr11 65632262 65632262 G T rs558114 MUS81 Synonymous SNV T417T 0.706 0.758 0.765 260 829 291 0.667 225 296 107 85 84 Benign 7.49 7113 chr1 237890437 237890437 C T rs2685301 RYR2 Synonymous SNV S3592S 0.998 0.997 0.993 389 1172 383 0.997 292 585 191 145 194 Benign 7.922 7114 chr1 240255569 240255571 GGC - rs140531536 FMN2 G59del 0.646 0.591 0.619 251 758 227 0.644 182 340 105 76 111 7115 chr11 65636053 65636053 T C rs601314 EFEMP2 Nonsynonymous SNV I259V 0.996 1 0.986 387 1169 384 0.992 290 582 192 143 192 Benign 0.39 7116 chr1 240256822 240256822 C A rs10926124 FMN2 Synonymous SNV A471A 0.566 0.516 0.585 228 664 198 0.585 172 184 51 51 70 18.68 7117 chr1 230845977 230845977 G A rs4762 AGT Nonsynonymous SNV T207M 0.116 0.104 0.105 46 136 40 0.118 31 6 1 1 1 Benign 24 7118 chr11 56000600 56000600 G T rs3919907 OR5T2 Nonsynonymous SNV S21Y 0.244 0.271 0.248 91 286 104 0.233 73 30 13 7 10 0.052 7119 chr11 65638719 65638719 G A rs633800 EFEMP2 Synonymous SNV H92H 0.55 0.578 0.585 204 646 222 0.523 172 181 64 48 54 Benign 9.904 7120 chr1 241798631 241798631 C T rs3737604 CHML Synonymous SNV S146S 0.284 0.297 0.289 103 334 114 0.264 85 36 22 9 11 3.329 7121 chr11 65649774 65649774 A G rs604630 CTSW Nonsynonymous SNV S139G 0.987 0.995 0.99 386 1159 382 0.99 291 572 190 144 191 0.001 7122 chr11 56057898 56057898 G A rs61888286 OR8H1 Nonsynonymous SNV S214F 0.079 0.063 0.054 23 93 24 0.059 16 0 1 0 0 0.615 7123 chr11 5528898 5528898 G A rs762207092 UBQLN3 Nonsynonymous SNV R631C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 27.6 7124 chr1 241907817 241907817 T C rs10802990 WDR64 Synonymous SNV N531N 0.462 0.458 0.418 194 542 176 0.497 123 134 39 26 47 0.148 7125 chr11 65649984 65649984 T C rs687672 CTSW Synonymous SNV D175D 0.824 0.891 0.867 308 967 342 0.79 255 399 151 111 123 0.003 7126 chr1 241929542 241929542 G A rs12095445 WDR64 Nonsynonymous SNV R657Q 0.116 0.151 0.078 55 136 58 0.141 23 13 5 2 5 18.09 7127 chr11 56058474 56058474 T A rs17540861 OR8H1 Nonsynonymous SNV E22V 0.079 0.063 0.054 23 93 24 0.059 16 0 1 0 0 12.88 7128 chr11 65664346 65664346 T C rs637571 FOSL1 Synonymous SNV Q77Q 0.416 0.419 0.378 175 488 161 0.449 111 102 38 19 39 0.571 7129 chr11 65667796 65667796 G A rs1058068 FOSL1 Synonymous SNV F5F 0.349 0.357 0.231 140 410 137 0.359 68 104 37 13 39 18.46 7130 chr1 241951329 241951329 C T rs12074374 WDR64 Nonsynonymous SNV R962W 0.124 0.151 0.078 59 145 58 0.151 23 13 6 2 5 26.2 7131 chr11 55563336 55563336 A T rs76383258 OR5D14 Nonsynonymous SNV Q102L 0.138 0.104 0.112 60 162 40 0.154 33 11 2 0 4 16.71 7132 chr1 231057247 231057247 A T rs2275333 TTC13 Synonymous SNV G553G 0.112 0.104 0.054 36 131 40 0.092 16 20 3 3 4 4.377 7133 chr11 6567895 6567895 - TGCCCTACTGCA DNHD1 L1912_R1913insHALL 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 7134 chr1 231114465 231114465 C G rs76376323 TTC13 Nonsynonymous SNV G38R 0.258 0.19 0.037 58 303 73 0.149 11 65 6 4 6 16.97 7135 chr11 65685225 65685225 T C rs7947504 C11orf68 Nonsynonymous SNV Q196R 0.988 0.99 0.976 378 1160 380 0.969 287 573 188 141 183 0.003 7136 chr1 242030151 242030151 A G rs735943 EXO1 Nonsynonymous SNV H354R 0.545 0.539 0.558 234 640 207 0.6 164 174 55 48 64 0.029 7137 chr11 490036 490036 G A rs75782220 PTDSS2 Synonymous SNV A214A 0.016 0.049 0.037 18 19 19 0.046 11 0 0 0 1 15.34 7138 chr1 231376806 231376806 G C rs2274067 C1orf131 Nonsynonymous SNV L28V 0.118 0.104 0.068 25 138 40 0.064 20 12 4 0 2 22.1 7139 chr11 65732651 65732651 G A rs550435 SART1 Synonymous SNV A172A 0.407 0.388 0.384 179 478 149 0.459 113 101 29 20 45 14.2 7140 chr1 242035438 242035438 G A rs4149965 EXO1 Nonsynonymous SNV V458M 0.253 0.232 0.255 120 297 89 0.308 75 32 11 7 17 0.002 7141 chr11 65733393 65733393 C T rs688862 SART1 Synonymous SNV T258T 0.555 0.589 0.585 196 651 226 0.503 172 179 69 47 53 15.53 7142 chr11 56143357 56143357 G A rs76949582 OR8U1, OR8U8 Synonymous SNV L86L 0.489 0.49 0.293 191 574 188 0.49 86 0 0 0 0 0.482 7143 chr11 65735174 65735174 G C rs660118 SART1 Nonsynonymous SNV G485A 0.365 0.339 0.252 172 428 130 0.441 74 101 29 20 44 2.733 7144 chr1 242042301 242042301 G A rs1047840 EXO1 Nonsynonymous SNV E589K 0.307 0.32 0.306 117 361 123 0.3 90 39 18 11 15 0.727 7145 chr1 231488524 231488524 C T rs2437150 SPRTN Nonsynonymous SNV P296L 0.627 0.604 0.65 248 736 232 0.636 191 230 73 59 76 3.111 7146 chr11 5012646 5012646 G A rs61751340 MMP26 Nonsynonymous SNV G172D 0.019 0.018 0.007 6 22 7 0.015 2 0 0 0 0 24.2 7147 chr11 56143360 56143360 C T rs79469149 OR8U1, OR8U8 Synonymous SNV Y87Y 0.49 0.49 0.299 194 575 188 0.497 88 0 0 0 0 0.044 7148 chr11 65787662 65787662 G A rs755098505 CATSPER1 Nonsynonymous SNV R692W 0 0 0.007 0 0 0 0 2 0 0 0 0 6.549 7149 chr1 242042545 242042545 A G rs1776148 EXO1 Nonsynonymous SNV E670G 0.62 0.615 0.551 251 728 236 0.644 162 222 77 42 78 0.197 7150 chr1 231557164 231557164 C G rs61750991 EGLN1 Nonsynonymous SNV Q157H 0.007 0.016 0.003 6 8 6 0.015 1 0 0 0 0 Benign 7.638 7151 chr11 56143370 56143370 G A rs77605888 OR8U1, OR8U8 Nonsynonymous SNV V91I 0.487 0.49 0.279 191 572 188 0.49 82 0 0 0 0 0.001 7152 chr11 65787666 65787666 G A rs3829937 CATSPER1 Synonymous SNV A690A 0.198 0.211 0.194 71 233 81 0.182 57 25 11 5 6 Likely benign 4.716 7153 chr11 65788072 65788072 C T rs3814747 CATSPER1 Nonsynonymous SNV V652I 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 Benign 21.4 7154 chr1 242045275 242045275 C T rs1635498 EXO1 Nonsynonymous SNV R723C 0.865 0.885 0.973 336 1016 340 0.862 286 490 164 140 158 22.6 7155 chr1 232144598 232144598 A T rs821616 DISC1 Nonsynonymous SNV S582C 0.279 0.227 0.289 111 327 87 0.285 85 45 11 11 17 23.4 7156 chr11 56143371 56143371 T G rs74603381 OR8U1, OR8U8 Nonsynonymous SNV V91G 0.486 0.487 0.279 190 571 187 0.487 82 0 0 0 0 0.053 7157 chr11 65790527 65790527 G T rs2845570 CATSPER1 Synonymous SNV R408R 0.563 0.578 0.537 226 661 222 0.579 158 188 69 42 66 Benign 6.747 7158 chr11 65810045 65810045 T G rs4565902 GAL3ST3 Nonsynonymous SNV E410A 0.1 0.107 0.18 33 117 41 0.085 53 24 11 5 7 3.905 7159 chr1 232144887 232144887 A G rs821617 DISC1 Nonsynonymous SNV K800R 0.262 0.206 0.296 107 308 79 0.274 87 44 11 11 17 6.321 7160 chr1 242687390 242687390 G A rs2810008 PLD5 Synonymous SNV H63H 0.294 0.32 0.34 122 345 123 0.313 100 55 22 21 24 15.89 7161 chr11 56143375 56143375 A T rs75240955 OR8U1, OR8U8 Synonymous SNV I92I 0.486 0.487 0.255 190 571 187 0.487 75 0 0 0 0 0.001 7162 chr11 56128406 56128406 A G rs62001032 OR8J1 Nonsynonymous SNV I228M 0.08 0.063 0.051 23 94 24 0.059 15 1 1 0 0 0.001 7163 chr11 65810209 65810209 C T rs61895584 GAL3ST3 Synonymous SNV P355P 0.849 0.841 0.81 338 997 323 0.867 238 430 139 99 148 13.09 7164 chr1 243493907 243493907 A T rs2275155 SDCCAG8 Nonsynonymous SNV E280D 0.373 0.313 0.306 140 438 120 0.359 90 73 16 16 20 Benign 16.28 7165 chr11 56143378 56143378 C G rs80298942 OR8U1, OR8U8 Synonymous SNV S93S 0.486 0.487 0.259 191 571 187 0.49 76 0 0 0 0 0.835 7166 chr11 65810749 65810749 T C rs7937692 GAL3ST3 Synonymous SNV V175V 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 1.133 7167 chr11 5565906 5565906 A G rs7934354 OR52H1 Nonsynonymous SNV M283T 0.037 0.031 0.051 8 44 12 0.021 15 0 1 1 0 22.5 7168 chr11 56143381 56143381 T C rs78405432 OR8U1, OR8U8 Synonymous SNV F94F 0.486 0.487 0.259 190 571 187 0.487 76 0 0 0 0 0.006 7169 chr11 6585007 6585007 G A rs11040923 DNHD1 Nonsynonymous SNV D3313N 0.531 0.568 0.527 215 623 218 0.551 155 166 60 43 57 8.1 7170 chr1 243579112 243579112 G A rs10927011 SDCCAG8 Synonymous SNV E477E 0.453 0.503 0.49 205 532 193 0.526 144 125 50 36 54 Benign 2.838 7171 chr11 56143382 56143382 G A rs77605314 OR8U1, OR8U8 Nonsynonymous SNV D95N 0.486 0.487 0.265 189 571 187 0.485 78 0 0 0 0 0.047 7172 chr11 56143103 56143103 G A rs200929810 OR8U1, OR8U8 Nonsynonymous SNV A2T 0.124 0.135 0 67 145 52 0.172 0 0 0 0 0 0.483 7173 chr1 245245402 245245402 C T rs10927387 EFCAB2 Synonymous SNV P67P 0.482 0.464 0.469 166 566 178 0.426 138 130 40 34 32 15.44 7174 chr11 66033430 66033430 C T rs2276036 KLC2 Nonsynonymous SNV P440S 0.188 0.193 0.184 74 221 74 0.19 54 26 9 6 8 10.26 7175 chr1 233225848 233225848 T C rs12059884 PCNX2 Synonymous SNV T1345T 0.103 0.109 0.116 49 121 42 0.126 34 7 3 2 3 2.507 7176 chr11 56143394 56143394 A G rs74667177 OR8U1, OR8U8 Nonsynonymous SNV T99A 0.487 0.49 0.255 190 572 188 0.487 75 0 0 0 0 0.001 7177 chr1 233398713 233398713 C T rs1033325 PCNX2 Nonsynonymous SNV R117K 0.304 0.266 0.347 126 357 102 0.323 102 48 14 15 21 0.085 7178 chr1 245849000 245849000 C T rs61744485 KIF26B Synonymous SNV P905P 0.154 0.177 0.163 63 181 68 0.162 48 13 8 7 4 4.817 7179 chr11 66083129 66083129 T C rs3741367 CD248 Nonsynonymous SNV H457R 0.386 0.372 0.408 146 453 143 0.374 120 94 28 19 36 0.001 7180 chr11 56143399 56143399 A G rs75482598 OR8U1, OR8U8 Synonymous SNV Q100Q 0.486 0.49 0.282 190 571 188 0.487 83 0 0 0 0 0.002 7181 chr1 245849342 245849342 G A rs116705728 KIF26B Synonymous SNV P1019P 0.075 0.102 0.058 27 88 39 0.069 17 3 3 1 1 0.358 7182 chr11 66083782 66083782 G A rs3741368 CD248 Synonymous SNV N239N 0.374 0.357 0.395 136 439 137 0.349 116 88 22 20 33 10.68 7183 chr1 245850095 245850095 C T rs871840 KIF26B Synonymous SNV D1270D 0.242 0.253 0.221 95 284 97 0.244 65 35 14 11 12 6.446 7184 chr11 56143400 56143400 C T rs80237042 OR8U1, OR8U8 Synonymous SNV L101L 0.486 0.49 0.276 190 571 188 0.487 81 0 0 0 0 0.312 7185 chr11 66099987 66099987 C T rs1784029 RIN1 Synonymous SNV A676A 0.657 0.656 0.616 259 771 252 0.664 181 244 81 58 92 15.06 7186 chr1 245851304 245851304 A G rs6701084 KIF26B Synonymous SNV T1673T 0.979 0.966 0.963 387 1149 371 0.992 283 563 179 136 192 0.001 7187 chr11 66100152 66100152 T C rs1784030 RIN1 Synonymous SNV E621E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.076 7188 chr11 56143408 56143408 C T rs79327545 OR8U1, OR8U8 Synonymous SNV C103C 0.486 0.492 0.272 191 570 189 0.49 80 0 0 0 0 0.085 7189 chr1 245851606 245851606 C T KIF26B Nonsynonymous SNV P1774L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.9 7190 chr11 66107674 66107674 A G rs1784035 BRMS1 Synonymous SNV D182D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 1.713 7191 chr11 56143411 56143411 T C rs77484944 OR8U1, OR8U8 Synonymous SNV F104F 0.486 0.487 0.282 190 571 187 0.487 83 0 0 0 0 0.002 7192 chr11 66109033 66109033 T C rs11537993 BRMS1 Synonymous SNV L67L 0.298 0.281 0.303 106 350 108 0.272 89 51 16 15 20 7.33 7193 chr1 245861571 245861571 C T rs3205034 KIF26B Synonymous SNV D1996D 0.646 0.62 0.602 240 758 238 0.615 177 241 71 57 79 17.69 7194 chr11 56143414 56143414 C G rs74329097 OR8U1, OR8U8 Synonymous SNV L105L 0.487 0.487 0.279 188 572 187 0.482 82 0 0 0 0 0.013 7195 chr1 246021941 246021941 T C rs2362587 SMYD3 Synonymous SNV A311A 0.712 0.755 0.718 278 836 290 0.713 211 301 105 74 105 5.673 7196 chr11 66206169 66206169 C T rs11110 MRPL11 Synonymous SNV V19V 0.343 0.375 0.293 116 403 144 0.297 86 59 28 20 20 15.61 7197 chr11 56143415 56143415 A G rs77097210 OR8U1, OR8U8 Nonsynonymous SNV T106A 0.488 0.482 0.286 188 573 185 0.482 84 0 0 0 0 0.001 7198 chr11 6622714 6622714 G A rs2288283 RRP8 Synonymous SNV N194N 0.837 0.88 0.83 330 983 338 0.846 244 416 150 101 143 2.26 7199 chr1 246670481 246670481 C G rs7520453 SMYD3 Nonsynonymous SNV K13N 0.8 0.841 0.823 328 939 323 0.841 242 374 135 100 138 15.4 7200 chr11 66272142 66272142 A G rs1671063 DPP3 Synonymous SNV T616T 0.594 0.604 0.622 209 697 232 0.536 183 200 71 55 55 0.002 7201 chr11 56143424 56143424 - CGGC rs768918196 OR8U1, OR8U8 Frameshift insertion I109Tfs*14 0.365 0.378 0.235 148 429 145 0.379 69 0 0 0 0 7202 chr11 6629665 6629665 C T rs1043388 ILK Synonymous SNV H99H 0.244 0.234 0.211 75 287 90 0.192 62 34 4 9 6 Benign 12.3 7203 chr11 56143426 56143429 ATCA - rs767571255 OR8U1, OR8U8 I109Mfs*26 0.425 0.438 0.272 172 499 168 0.441 80 0 0 0 0 7204 chr1 246714587 246714587 G A rs10754526 TFB2M Synonymous SNV P241P 0.364 0.404 0.293 162 427 155 0.415 86 79 24 23 32 8.821 7205 chr11 6630833 6630833 G A rs1043390 ILK Synonymous SNV P212P 0.246 0.234 0.214 75 289 90 0.192 63 34 4 9 6 Benign 8.793 7206 chr1 246720798 246720798 G A rs3124071 TFB2M Synonymous SNV I147I 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 6.612 7207 chr1 234041422 234041422 G C rs57010808 SLC35F3 Synonymous SNV P67P 0.405 0.398 0.429 143 476 153 0.367 126 98 33 33 22 13.75 7208 chr11 66358126 66358126 C T rs486584 CCDC87 Synonymous SNV L787L 0.521 0.523 0.544 218 612 201 0.559 160 158 48 47 61 6.186 7209 chr11 6636106 6636106 T A rs1128396 TPP1 Synonymous SNV G514G 0.185 0.206 0.177 61 217 79 0.156 52 17 3 7 5 Benign 11.86 7210 chr1 246755124 246755124 T C rs6702823 CNST Nonsynonymous SNV L87S 0.899 0.914 0.881 349 1055 351 0.895 259 475 163 113 158 0.001 7211 chr11 66472274 66472274 T C rs4930388 SPTBN2 Nonsynonymous SNV S825G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 6.023 7212 chr1 246805265 246805265 A G rs115633389 CNST Nonsynonymous SNV Q288R 0.02 0.029 0.017 13 23 11 0.033 5 1 0 0 1 0.002 7213 chr11 6648424 6648424 G A rs4758443 DCHS1 Nonsynonymous SNV T1949M 0.337 0.336 0.323 132 396 129 0.338 95 60 18 16 19 Benign 0.022 7214 chr1 246930564 246930564 G C rs7779 SCCPDH Nonsynonymous SNV G418R 0.099 0.115 0.102 39 116 44 0.1 30 3 0 4 2 34 7215 chr11 66512290 66512290 - GGCGGC rs567536854 C11orf80 A34_G35insAA 0.066 0.055 0.034 33 78 21 0.085 10 5 1 3 2 7216 chr11 6651810 6651810 A G rs2659872 DCHS1 Synonymous SNV L1405L 0.397 0.385 0.367 154 466 148 0.395 108 86 27 21 23 Benign 7.542 7217 chr11 6652618 6652618 C T rs2659871 DCHS1 Synonymous SNV P1232P 0.365 0.344 0.347 141 429 132 0.362 102 69 21 20 22 Benign 13.48 7218 chr1 247021085 247021085 G C rs41308162 AHCTF1 Synonymous SNV L1388L 0.05 0.073 0.014 22 59 28 0.056 4 1 1 1 1 5.823 7219 chr11 6655433 6655433 G A rs997263 DCHS1 Synonymous SNV H634H 0.351 0.352 0.337 137 412 135 0.351 99 62 22 19 20 Benign 5.803 7220 chr1 247048834 247048834 T C rs2642990 AHCTF1 Nonsynonymous SNV N874S 0.526 0.51 0.32 212 618 196 0.544 94 164 56 31 59 0.002 7221 chr11 66834252 66834252 C T rs2282502 RHOD Synonymous SNV D88D 0.359 0.331 0.405 149 421 127 0.382 119 60 22 29 25 9.53 7222 chr11 66837965 66837965 T C rs4930409 RHOD Nonsynonymous SNV C68R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.923 7223 chr1 247054333 247054333 C T rs200702767 AHCTF1 Nonsynonymous SNV V659I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 7224 chr1 234603386 234603386 G T rs270502 TARBP1 Synonymous SNV L370L 0.26 0.276 0.252 104 305 106 0.267 74 42 12 7 12 9.738 7225 chr11 66995603 66995603 T C rs3741189 KDM2A Synonymous SNV T351T 0.991 0.997 0.983 386 1164 383 0.99 289 577 191 142 191 4.515 7226 chr1 247109014 247109014 G C rs2642982 ZNF670-ZNF695 0.46 0.44 0.514 218 540 169 0.559 151 178 58 41 71 0.564 7227 chr11 67034266 67034266 C A rs2228418 GRK2 Synonymous SNV I32I 0.926 0.917 0.803 361 1087 352 0.926 236 506 163 113 169 21 7228 chr1 247150740 247150740 T C rs3749427 ZNF695 Synonymous SNV K359K 0.609 0.654 0.585 236 715 251 0.605 172 203 90 54 68 8.86 7229 chr11 67068859 67068859 T C rs2298815 ANKRD13D Synonymous SNV V446V 0.966 0.953 0.969 378 1134 366 0.969 285 548 175 139 183 0.008 7230 chr1 247151557 247151557 A G rs2642992 ZNF695 Nonsynonymous SNV V87A 0.618 0.654 0.599 238 725 251 0.61 176 209 90 55 70 0.047 7231 chr11 67200819 67200819 C T rs4930427 RPS6KB2 Synonymous SNV F269F 0.373 0.344 0.323 128 438 132 0.328 95 93 28 12 25 0.459 7232 chr11 67202156 67202156 C T rs13859 RPS6KB2 Nonsynonymous SNV A420V 0.382 0.352 0.327 132 449 135 0.338 96 98 29 12 25 23.7 7233 chr1 247162658 247162658 C T rs2642973 ZNF695 Nonsynonymous SNV R84K 0.838 0.82 0.847 306 984 315 0.785 249 415 130 109 121 0.029 7234 chr1 235295089 235295089 T G rs774948043 RBM34 Nonsynonymous SNV K410T 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 23.3 7235 chr11 67257823 67257823 C A rs641081 AIP Nonsynonymous SNV Q169K 0.991 0.992 0.99 384 1163 381 0.985 291 576 189 145 189 Benign 0.007 7236 chr1 247587477 247587477 G A rs3806268 NLRP3 Synonymous SNV A244A 0.535 0.57 0.541 209 628 219 0.536 159 170 68 48 55 Benign 0.705 7237 chr11 67258391 67258391 A G rs4930199 AIP Nonsynonymous SNV Q248R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 3.401 7238 chr1 247587531 247587531 A G rs4925543 NLRP3 Synonymous SNV R262R 0.932 0.935 0.925 363 1094 359 0.931 272 510 167 125 168 Benign 0.012 7239 chr1 247588053 247588053 C T rs34298354 NLRP3 Synonymous SNV S436S 0.219 0.182 0.18 66 257 70 0.169 53 32 6 4 5 Benign 5.056 7240 chr1 235652513 235652513 T C rs291396 B3GALNT2 Synonymous SNV E107E 0.512 0.516 0.497 196 601 198 0.503 146 149 56 31 52 Benign 6.009 7241 chr11 67263767 67263767 A G rs618633 PITPNM1 Synonymous SNV A732A 0.992 0.992 0.922 389 1165 381 0.997 271 578 189 135 194 2.242 7242 chr1 247614693 247614693 C T rs6695302 OR2B11 Nonsynonymous SNV V198M 0.989 0.99 0.993 389 1161 380 0.997 292 574 188 145 194 0.158 7243 chr11 67288594 67288594 C T rs2276118 CABP2 Nonsynonymous SNV R100Q 0.597 0.625 0.636 242 701 240 0.621 187 221 82 61 77 Benign 17.94 7244 chr1 247654498 247654498 G A rs61070846 OR2W5 Synonymous SNV L23L 0.24 0.195 0.218 93 282 75 0.238 64 29 6 7 11 1.633 7245 chr11 67352689 67352689 A G rs1695 GSTP1 Nonsynonymous SNV I105V 0.307 0.297 0.255 120 360 114 0.308 75 62 22 9 21 drug response 0.001 7246 chr1 247654993 247654993 T C rs10925061 OR2W5 Synonymous SNV S188S 0.305 0.333 0.333 127 358 128 0.326 98 55 22 13 24 1.456 7247 chr1 247655102 247655102 G A rs143904230 OR2W5 Nonsynonymous SNV G225S 0.033 0.036 0.027 9 39 14 0.023 8 0 0 0 1 0.521 7248 chr11 67353970 67353970 T C rs4891 GSTP1 Synonymous SNV S185S 0.308 0.297 0.255 123 362 114 0.315 75 63 22 11 22 0.02 7249 chr1 235955150 235955150 G A rs11583387 LYST Synonymous SNV N1464N 0.129 0.115 0.139 66 151 44 0.169 41 10 2 2 6 Benign/Likely benign 3.701 7250 chr1 247655275 247655275 T C rs12141850 OR2W5 Synonymous SNV H282H 0.31 0.336 0.337 127 364 129 0.326 99 56 23 13 24 8.73 7251 chr11 6735835 6735835 C T rs7951709 GVINP1 0 0 0.156 0 0 0 0 46 0 0 3 0 3.11 7252 chr1 235971763 235971763 A G rs3768066 LYST Synonymous SNV L785L 0.172 0.154 0.177 83 202 59 0.213 52 14 3 4 7 Benign/Likely benign 8.463 7253 chr11 6736784 6736784 C T rs61735337 GVINP1 0 0 0.156 0 0 0 0 46 0 0 3 0 1.21 7254 chr1 247695612 247695612 G A rs6657127 OR2C3 Nonsynonymous SNV P68S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.535 7255 chr11 67372477 67372477 G T rs12421329 C11orf72 0 0 0.272 0 0 0 0 80 0 0 12 0 7.642 7256 chr11 6738952 6738952 G T rs10769716 GVINP1 0 0 0.248 0 0 0 0 73 0 0 12 0 0.014 7257 chr11 6739109 6739109 G A rs7112561 GVINP1 0 0 0.65 0 0 0 0 191 0 0 62 0 0.008 7258 chr1 247695756 247695756 T C rs6697472 OR2C3 Nonsynonymous SNV T20A 0.997 0.995 0.986 388 1170 382 0.995 290 583 190 143 193 1.695 7259 chr1 236208773 236208773 C T rs10733133 NID1 Nonsynonymous SNV V246I 0.403 0.406 0.398 178 473 156 0.456 117 91 32 21 36 0.131 7260 chr11 6739407 6739407 A G rs12284429 GVINP1 0 0 0.65 0 0 0 0 191 0 0 62 0 9.948 7261 chr11 67395714 67395714 C T rs7124513 NUDT8 Synonymous SNV E138E 0.289 0.294 0.269 102 339 113 0.262 79 52 16 12 14 10.66 7262 chr1 247752019 247752019 G C rs1151687 OR2G2 Nonsynonymous SNV V120L 0.708 0.677 0.612 267 831 260 0.685 180 292 82 53 95 22.7 7263 chr1 236413230 236413230 T A rs2477599 ERO1B Nonsynonymous SNV D129V 0.606 0.651 0.558 232 711 250 0.595 164 213 86 59 73 23.8 7264 chr11 6739814 6739814 C T rs7114441 GVINP1 0 0 0.895 0 0 0 0 263 0 0 118 0 0.18 7265 chr11 6739822 6739822 T C rs7102825 GVINP1 0 0 0.803 0 0 0 0 236 0 0 95 0 0.011 7266 chr11 6739850 6739850 G A rs58825115 GVINP1 0 0 0.156 0 0 0 0 46 0 0 3 0 3.11 7267 chr1 247752109 247752109 A G rs61732336 OR2G2 Nonsynonymous SNV M150V 0.078 0.083 0.065 27 91 32 0.069 19 4 1 0 0 0.001 7268 chr11 67402362 67402362 T G rs3758938 TBX10 Nonsynonymous SNV K101T 0.271 0.271 0.265 100 318 104 0.256 78 48 12 12 13 22.5 7269 chr1 247752161 247752161 T C rs10925085 OR2G2 Nonsynonymous SNV L167P 0.411 0.385 0.469 191 483 148 0.49 138 104 24 33 43 25.5 7270 chr11 6740308 6740308 C T rs12223353 GVINP1 0 0 0.442 0 0 0 0 130 0 0 27 0 6.107 7271 chr1 236645670 236645670 C T rs604070 EDARADD Synonymous SNV D113D 0.216 0.234 0.248 69 253 90 0.177 73 22 6 6 8 Benign/Likely benign 12.8 7272 chr11 67414492 67414492 C T rs948445 ACY3 Nonsynonymous SNV R8Q 0.814 0.813 0.772 330 956 312 0.846 227 398 126 88 139 18.79 7273 chr1 247752367 247752367 A G rs869111 OR2G2 Nonsynonymous SNV R236G 0.532 0.552 0.514 219 625 212 0.562 151 161 54 42 60 0.515 7274 chr11 67430698 67430698 G A rs3741172 ALDH3B2 Synonymous SNV C382C 0.104 0.125 0.133 33 122 48 0.085 39 10 2 2 2 0.924 7275 chr11 55563900 55563900 T C rs297055 OR5D14 Nonsynonymous SNV L290P 0.138 0.174 0.18 53 162 67 0.136 53 9 7 4 3 25.7 7276 chr1 247769752 247769752 A G rs61730407 OR2G3 Nonsynonymous SNV I289V 0.463 0.531 0.435 204 543 204 0.523 128 121 54 31 56 21.6 7277 chr11 5461861 5461861 C G rs76233016 OR51I1 Nonsynonymous SNV S295T 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 14.06 7278 chr11 67430762 67430762 T C rs1551886 ALDH3B2 Nonsynonymous SNV H361R 0.895 0.875 0.867 356 1051 336 0.913 255 474 146 110 163 0.001 7279 chr1 247835674 247835674 G A rs28446289 OR13G1 Nonsynonymous SNV R224C 0.399 0.411 0.398 151 468 158 0.387 117 86 32 26 31 22.8 7280 chr11 67433869 67433869 C T rs1551888 ALDH3B2 Nonsynonymous SNV S52N 0.882 0.854 0.867 352 1036 328 0.903 255 473 146 110 164 6.512 7281 chr1 247835908 247835908 T A rs28556931 OR13G1 Nonsynonymous SNV M146L 0.399 0.411 0.398 151 468 158 0.387 117 86 32 26 31 15.99 7282 chr11 67814979 67814979 G C rs2471829 TCIRG1 Synonymous SNV L199L 1 0.995 0.99 389 1174 382 0.997 291 587 190 144 194 Benign 10.6 7283 chr11 55595081 55595081 C T rs7102394 OR5L2 Synonymous SNV P129P 0.092 0.13 0.119 34 108 50 0.087 35 4 2 3 1 8.733 7284 chr11 56000020 56000020 C A rs150886969 OR5T2 Nonsynonymous SNV R214S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.414 7285 chr11 55595324 55595324 C T rs7102663 OR5L2 Synonymous SNV T210T 0.093 0.13 0.119 34 109 50 0.087 35 4 2 3 1 0.698 7286 chr11 56143762 56143762 C T rs79307272 OR8U1, OR8U8 Synonymous SNV I221I 0.497 0.497 0.068 194 583 191 0.497 20 0 0 0 0 0.999 7287 chr11 6789929 6789929 C A rs11828782 OR2AG2 Nonsynonymous SNV R87L 0.364 0.354 0.327 154 427 136 0.395 96 81 22 17 25 0.019 7288 chr1 247835950 247835950 T C rs1151640 OR13G1 Nonsynonymous SNV I132V 0.398 0.372 0.418 184 467 143 0.472 123 85 17 21 44 0.016 7289 chr11 56143767 56143767 C T rs79705206 OR8U1, OR8U8 Nonsynonymous SNV S223F 0.497 0.497 0.048 195 583 191 0.5 14 0 0 0 0 2.884 7290 chr11 6790028 6790028 C G rs10839616 OR2AG2 Nonsynonymous SNV R54P 0.244 0.253 0.231 91 286 97 0.233 68 42 8 7 8 22.1 7291 chr11 55606693 55606693 G A rs6591700 OR5D16 Nonsynonymous SNV A156T 0.092 0.13 0.119 34 108 50 0.087 35 4 2 3 1 4.157 7292 chr1 247836008 247836008 G A rs28555391 OR13G1 Synonymous SNV F112F 0.399 0.411 0.398 151 468 158 0.387 117 86 32 26 31 3.828 7293 chr11 56143782 56143782 - GA rs765067633 OR8U1, OR8U8 Frameshift insertion H229Sfs*53 0.493 0.492 0.007 194 579 189 0.497 2 0 0 0 0 7294 chr1 247836207 247836207 T A rs28711149 OR13G1 Nonsynonymous SNV K46I 0.399 0.411 0.398 151 468 158 0.387 117 86 32 26 31 0.147 7295 chr11 56143785 56143786 AT - rs758139791 OR8U1, OR8U8 H229Lfs*3 0.495 0.492 0.003 194 581 189 0.497 1 0 0 0 0 7296 chr11 6790106 6790106 T C rs7102536 OR2AG2 Nonsynonymous SNV Y28C 0.842 0.831 0.803 319 988 319 0.818 236 412 131 94 132 5.821 7297 chr11 56143795 56143795 G A rs78729591 OR8U1, OR8U8 Synonymous SNV E232E 0.49 0.49 0 192 575 188 0.492 0 0 0 0 0 0.037 7298 chr11 56143803 56143803 A G rs202193035 OR8U1, OR8U8 Nonsynonymous SNV Q235R 0.488 0.492 0 190 573 189 0.487 0 0 0 0 0 0.001 7299 chr1 247921100 247921100 T G rs1552812 OR1C1 Synonymous SNV G203G 0.859 0.875 0.871 331 1009 336 0.849 256 437 147 110 139 0.137 7300 chr11 67957518 67957518 A T rs2512606 KMT5B Nonsynonymous SNV I9N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.45 7301 chr1 247921352 247921352 C T rs1552813 OR1C1 Synonymous SNV A119A 0.926 0.966 0.935 364 1087 371 0.933 275 504 179 129 169 14.22 7302 chr11 56143804 56143804 G C rs200433243 OR8U1, OR8U8 Nonsynonymous SNV Q235H 0.487 0.492 0 190 572 189 0.487 0 0 0 0 0 0.001 7303 chr1 247978319 247978319 A G rs6695283 OR14A16 Nonsynonymous SNV I238T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.378 7304 chr11 68030173 68030173 C A rs3802746 C11orf24 Nonsynonymous SNV G97V 0.406 0.391 0.303 161 477 150 0.413 89 100 31 14 34 20.7 7305 chr11 56143807 56143807 G A rs201727202 OR8U1, OR8U8 Synonymous SNV K236K 0.487 0.492 0 189 572 189 0.485 0 0 0 0 0 0.212 7306 chr1 247978542 247978544 AGG - rs35979231 OR14A16 S163del 0.767 0.815 0.833 316 901 313 0.81 245 344 131 102 128 7307 chr11 6806496 6806496 T C rs11041022 OR2AG1 Synonymous SNV V76V 0.386 0.354 0.31 148 453 136 0.379 91 87 22 17 22 2.687 7308 chr11 56143810 56143810 T C rs201982103 OR8U1, OR8U8 Synonymous SNV A237A 0.487 0.492 0 188 572 189 0.482 0 0 0 0 0 0.004 7309 chr1 247978996 247978996 A G rs10888249 OR14A16 Synonymous SNV L12L 0.855 0.865 0.881 341 1004 332 0.874 259 429 148 115 151 0.023 7310 chr11 6806827 6806827 G T rs2659880 OR2AG1 Nonsynonymous SNV V187L 0.384 0.354 0.303 148 451 136 0.379 89 85 22 16 22 0.001 7311 chr1 248004614 248004614 G A rs6667389 OR11L1 Synonymous SNV T195T 0.859 0.885 0.898 338 1009 340 0.867 264 439 150 120 145 6.256 7312 chr11 56143816 56143816 G C rs111512467 OR8U1, OR8U8 Synonymous SNV S239S 0.486 0.49 0 189 570 188 0.485 0 0 0 0 0 0.134 7313 chr11 56143819 56143819 G C rs113312059 OR8U1, OR8U8 Synonymous SNV T240T 0.486 0.49 0 188 571 188 0.482 0 0 0 0 0 0.077 7314 chr11 6807163 6807163 C G rs2659879 OR2AG1 Nonsynonymous SNV R299G 0.388 0.354 0.327 149 456 136 0.382 96 87 23 21 21 10.98 7315 chr1 248004687 248004687 C G rs10888255 OR11L1 Nonsynonymous SNV R171P 0.862 0.885 0.898 338 1012 340 0.867 264 442 150 120 145 9.848 7316 chr11 56143823 56143823 G A rs77614949 OR8U1, OR8U8 Nonsynonymous SNV G242S 0.486 0.49 0 190 571 188 0.487 0 0 0 0 0 0.017 7317 chr11 6816778 6816778 A G rs866347 OR6A2 Synonymous SNV S54S 0.832 0.857 0.789 345 977 329 0.885 232 409 141 93 153 0.045 7318 chr1 248004775 248004775 C T rs10888256 OR11L1 Nonsynonymous SNV A142T 0.862 0.885 0.898 337 1012 340 0.864 264 442 150 120 144 0.11 7319 chr11 5510682 5510682 G A rs147388113 OR52D1 Nonsynonymous SNV G249D 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 23.2 7320 chr11 6816875 6816875 G A rs7122644 OR6A2 Nonsynonymous SNV A22V 0.29 0.315 0.303 132 341 121 0.338 89 50 16 14 20 0.001 7321 chr11 56143858 56143858 G C rs78068762 OR8U1, OR8U8 Synonymous SNV G253G 0.484 0.474 0 187 568 182 0.479 0 0 0 0 0 0.008 7322 chr11 56143864 56143864 C G rs111260371 OR8U1, OR8U8 Synonymous SNV L255L 0.483 0.469 0 186 567 180 0.477 0 0 0 0 0 0.007 7323 chr1 248004848 248004848 G C rs4607924 OR11L1 Nonsynonymous SNV F117L 0.862 0.885 0.898 337 1012 340 0.864 264 442 150 120 144 6.513 7324 chr11 68192690 68192690 G A rs556442 LRP5 Synonymous SNV V538V 0.624 0.664 0.609 228 732 255 0.585 179 225 89 52 64 Benign 10.68 7325 chr11 56143867 56143867 T C rs111341120 OR8U1, OR8U8 Synonymous SNV I256I 0.481 0.469 0 187 565 180 0.479 0 0 0 0 0 0.031 7326 chr11 68549340 68549340 A G rs2228502 CPT1A Synonymous SNV F417F 0.897 0.901 0.901 368 1053 346 0.944 265 473 156 119 174 Benign 0.013 7327 chr11 56143882 56143882 G A rs113061820 OR8U1, OR8U8 Synonymous SNV Q261Q 0.474 0.461 0 187 557 177 0.479 0 0 0 0 0 0.089 7328 chr1 248004877 248004877 C T rs10888257 OR11L1 Nonsynonymous SNV G108S 0.862 0.883 0.898 337 1012 339 0.864 264 442 149 120 144 13.73 7329 chr11 68562328 68562328 C T rs2229738 CPT1A Nonsynonymous SNV A275T 0.055 0.086 0.071 24 65 33 0.062 21 1 0 0 0 Benign 12.21 7330 chr11 56143885 56143885 T A rs111871244 OR8U1, OR8U8 Synonymous SNV P262P 0.475 0.461 0 186 558 177 0.477 0 0 0 0 0 0.042 7331 chr11 56143891 56143891 T A rs112265664 OR8U1, OR8U8 Synonymous SNV S264S 0.47 0.456 0 185 552 175 0.474 0 0 0 0 0 0.182 7332 chr11 68671477 68671477 T C rs1249463 IGHMBP2 Synonymous SNV L19L 0.833 0.833 0.844 323 978 320 0.828 248 408 135 103 133 Benign 7.424 7333 chr1 248004884 248004884 T C rs1339845 OR11L1 Synonymous SNV V105V 0.96 0.948 0.959 363 1127 364 0.931 282 542 172 136 170 0.018 7334 chr11 56143898 56143898 G T rs373392784 OR8U1, OR8U8 Nonsynonymous SNV A267S 0.462 0.451 0 186 542 173 0.477 0 0 0 0 0 0.003 7335 chr1 248020556 248020556 G C rs11204523 TRIM58 Nonsynonymous SNV W3S 0.652 0.688 0.735 279 765 264 0.715 216 294 109 84 109 0.073 7336 chr11 68678962 68678962 T C rs560096 IGHMBP2 Nonsynonymous SNV L201S 0.836 0.841 0.844 324 982 323 0.831 248 408 135 103 133 Benign 0.073 7337 chr1 248028219 248028219 G A rs946696 TRIM58 Synonymous SNV P243P 0.477 0.487 0.582 173 560 187 0.444 171 202 69 53 56 10.73 7338 chr11 56143900 56143900 C T rs202086525 OR8U1 Synonymous SNV A267A 0.463 0.445 0 183 543 171 0.469 0 0 0 0 0 7.552 7339 chr11 68703959 68703959 A G rs622082 IGHMBP2 Nonsynonymous SNV T671A 0.311 0.365 0.316 109 365 140 0.279 93 57 26 15 13 Benign 0.001 7340 chr1 248039451 248039451 C T rs3811444 TRIM58 Nonsynonymous SNV T374M 0.327 0.328 0.33 124 384 126 0.318 97 55 18 13 20 19.77 7341 chr11 56143903 56143903 G T rs113434967 OR8U1 Synonymous SNV L268L 0.461 0.451 0 180 541 173 0.462 0 0 0 0 0 0.036 7342 chr11 56143906 56143906 C T rs201664860 OR8U1, OR8U8 Synonymous SNV D269D 0.454 0.451 0 178 533 173 0.456 0 0 0 0 0 1.932 7343 chr11 56143907 56143907 A G rs374830614 OR8U1, OR8U8 Nonsynonymous SNV T270A 0.453 0.453 0 178 532 174 0.456 0 0 0 0 0 7.101 7344 chr11 68704264 68704264 C T rs546382 IGHMBP2 Synonymous SNV S772S 0.311 0.365 0.316 109 365 140 0.279 93 57 26 15 13 Benign 18.64 7345 chr1 248039713 248039713 A G rs3811445 TRIM58 Synonymous SNV T461T 0.59 0.602 0.568 232 693 231 0.595 167 199 69 46 69 0.022 7346 chr11 68705674 68705674 C A rs17612126 IGHMBP2 Nonsynonymous SNV T879K 0.233 0.201 0.245 102 274 77 0.262 72 31 6 7 13 Benign 1.138 7347 chr1 248059423 248059423 C T rs10888267 OR2W3 Nonsynonymous SNV R179C 0.564 0.586 0.548 202 662 225 0.518 161 186 63 45 54 17.71 7348 chr11 56143936 56143936 A G rs72925527 OR8U1, OR8U8 Synonymous SNV T279T 0.402 0.411 0 159 472 158 0.408 0 0 0 0 0 0.006 7349 chr11 56143942 56143942 C T rs72925528 OR8U1, OR8U8 Synonymous SNV I281I 0.393 0.398 0 157 461 153 0.403 0 0 0 0 0 5.051 7350 chr11 68748003 68748003 T C rs34847539 MRGPRD Synonymous SNV T151T 0.6 0.544 0.609 249 704 209 0.638 179 216 51 56 78 0.088 7351 chr1 248059456 248059456 G A rs12135078 OR2W3 Nonsynonymous SNV V190I 0.544 0.591 0.493 208 639 227 0.533 145 169 64 36 55 0.741 7352 chr11 56143963 56143963 A G rs199998773 OR8U1, OR8U8 Synonymous SNV L288L 0.294 0.258 0 116 345 99 0.297 0 0 0 0 0 0.009 7353 chr11 68773403 68773403 G A rs11544722 MRGPRF Synonymous SNV C125C 0.275 0.326 0.293 89 323 125 0.228 86 45 15 13 13 4.809 7354 chr11 56143966 56143966 C T rs12291978 OR8U1, OR8U8 Synonymous SNV I289I 0.433 0.398 0.296 175 508 153 0.449 87 48 11 12 19 7.119 7355 chr11 68822739 68822739 T C rs1470892 TPCN2 Synonymous SNV A116A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.053 7356 chr1 248059476 248059476 A C rs12139390 OR2W3 Nonsynonymous SNV E196D 0.797 0.857 0.782 306 936 329 0.785 230 370 142 90 123 17.23 7357 chr11 56143969 56143969 T C rs749781972 OR8U1, OR8U8 Synonymous SNV Y290Y 0.285 0.255 0 114 335 98 0.292 0 0 0 0 0 0.002 7358 chr11 68840160 68840160 A G rs3750965 TPCN2 Nonsynonymous SNV K376R 0.342 0.284 0.34 128 401 109 0.328 100 64 16 16 21 2.458 7359 chr1 236899900 236899900 C - rs11355106 ACTN2 P32Lfs*12 0.714 0.742 0.752 260 838 285 0.667 221 305 106 87 88 7360 chr11 56143972 56143972 C T rs771164400 OR8U1, OR8U8 Synonymous SNV S291S 0.283 0.255 0 114 332 98 0.292 0 0 0 0 0 2.595 7361 chr1 236914854 236914854 G A ACTN2 Nonsynonymous SNV E581K 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 31 7362 chr1 248059703 248059703 T A rs11204545 OR2W3 Nonsynonymous SNV M272K 0.664 0.714 0.643 253 779 274 0.649 189 257 94 62 87 4.34 7363 chr11 56143976 56143976 C A rs774522302 OR8U1 Nonsynonymous SNV Q293K 0.259 0.24 0 110 304 92 0.282 0 0 0 0 0 3.778 7364 chr11 68840397 68840397 T C rs1466221 TPCN2 Synonymous SNV Y386Y 0.448 0.503 0.412 174 526 193 0.446 121 105 41 28 41 0.005 7365 chr1 248059712 248059712 T C rs11204546 OR2W3 Nonsynonymous SNV M275T 0.664 0.716 0.643 252 779 275 0.646 189 257 95 62 86 0.103 7366 chr11 68840399 68840399 G A rs61746574 TPCN2 Nonsynonymous SNV G387D 0.15 0.195 0.116 53 176 75 0.136 34 10 3 0 6 0.059 7367 chr1 248084464 248084464 T C rs11204564 OR2T8 Nonsynonymous SNV W49R 0.957 0.958 0.966 371 1124 368 0.951 284 537 176 138 176 0.036 7368 chr11 68840412 68840412 C G rs1466220 TPCN2 Synonymous SNV L391L 0.448 0.503 0.412 174 526 193 0.446 121 105 41 28 41 4.554 7369 chr11 68851414 68851414 T C rs2376558 TPCN2 Nonsynonymous SNV L564P 0.991 0.984 0.925 385 1164 378 0.987 272 577 186 135 190 10.67 7370 chr11 56143981 56143981 T C rs760440411 OR8U1 Synonymous SNV N294N 0.234 0.214 0 106 275 82 0.272 0 0 0 0 0 0.004 7371 chr1 248085011 248085011 C G rs4595394 OR2T8 Nonsynonymous SNV A231G 0.155 0.128 0.075 46 182 49 0.118 22 29 5 4 9 6.019 7372 chr11 56143984 56143984 G A rs757140584 OR8U1 Synonymous SNV K295K 0.224 0.203 0 102 263 78 0.262 0 0 0 0 0 1.005 7373 chr11 6898495 6898495 T C rs2595453 OR10A4 Nonsynonymous SNV L206P 0.065 0.055 0.065 24 76 21 0.062 19 2 0 0 0 25 7374 chr11 56143987 56143987 G T rs199932239 OR8U1 Nonsynonymous SNV E296D 0.214 0.198 0 102 251 76 0.262 0 0 0 0 0 0.002 7375 chr1 248085124 248085124 G A rs4590708 OR2T8 Nonsynonymous SNV D269N 0.233 0.208 0.218 88 274 80 0.226 64 35 8 7 13 21.9 7376 chr1 237814783 237814783 C T rs684923 RYR2 Synonymous SNV H2602H 0.451 0.464 0.476 204 530 178 0.523 140 126 44 33 48 Benign 13.49 7377 chr11 69063136 69063136 C T rs7117236 MYEOV Synonymous SNV A15A 0.216 0.203 0.218 57 254 78 0.146 64 21 5 5 7 13.13 7378 chr11 56143990 56143990 G A rs779631327 OR8U1 Synonymous SNV V297V 0.204 0.188 0 100 240 72 0.256 0 0 0 0 0 0.457 7379 chr1 248112745 248112745 G T rs4925788 OR2L8 Nonsynonymous SNV G196C 0.84 0.828 0.823 334 986 318 0.856 242 400 128 96 141 10.03 7380 chr11 69063393 69063393 T C rs7103126 MYEOV Nonsynonymous SNV V101A 0.216 0.203 0.218 57 254 78 0.146 64 21 5 5 7 0.003 7381 chr1 248112762 248112762 T C rs4925789 OR2L8 Synonymous SNV S201S 0.818 0.807 0.803 324 960 310 0.831 236 374 121 92 133 0.108 7382 chr11 56185224 56185224 A G rs12785840 OR5R1 Nonsynonymous SNV I162T 0.147 0.159 0.136 61 173 61 0.156 40 11 2 1 1 1.132 7383 chr11 69063510 69063510 G A rs11539762 MYEOV Nonsynonymous SNV R140Q 0.148 0.122 0.129 32 174 47 0.082 38 13 0 3 2 21.3 7384 chr1 248112763 248112763 G A rs4925790 OR2L8 Nonsynonymous SNV A202T 0.818 0.807 0.803 326 960 310 0.836 236 375 121 92 133 0.36 7385 chr11 69063728 69063728 G C rs11228610 MYEOV Nonsynonymous SNV G213R 0.149 0.125 0.126 34 175 48 0.087 37 13 1 3 4 13.1 7386 chr1 248112771 248112771 C T rs4925791 OR2L8 Synonymous SNV I204I 0.819 0.807 0.799 327 961 310 0.838 235 374 121 92 133 8.843 7387 chr11 56185159 56185159 A G rs7930678 OR5R1 Nonsynonymous SNV F184L 0.284 0.271 0.313 113 333 104 0.29 92 49 12 13 19 1.846 7388 chr1 240341268 240341268 A G rs3765588 FMN2 Synonymous SNV S610S 0.239 0.216 0.214 84 281 83 0.215 63 36 11 9 6 3.01 7389 chr1 248112809 248112809 A G rs4925583 OR2L8 Nonsynonymous SNV Y217C 0.94 0.938 0.891 369 1104 360 0.946 262 517 170 118 174 23.3 7390 chr11 56237410 56237410 A G rs617315 OR5M3 Synonymous SNV A188A 0.259 0.26 0.235 109 304 100 0.279 69 35 14 4 18 0.017 7391 chr11 69063767 69063767 C A rs12274095 MYEOV Nonsynonymous SNV P226T 0.127 0.109 0.092 28 149 42 0.072 27 12 0 2 0 0.015 7392 chr1 240492734 240492734 G A rs3795677 FMN2 Nonsynonymous SNV R775H 0.269 0.323 0.303 110 316 124 0.282 89 48 25 9 10 20.7 7393 chr11 56237722 56237722 T A rs605734 OR5M3 Nonsynonymous SNV L84F 0.259 0.258 0.231 109 304 99 0.279 68 36 13 3 18 0.19 7394 chr11 56185327 56185327 T C rs7933772 OR5R1 Nonsynonymous SNV S128G 0.284 0.271 0.313 113 333 104 0.29 92 49 12 13 19 21.2 7395 chr11 6913127 6913127 A G rs2741804 OR2D2 Nonsynonymous SNV M202T 0.589 0.565 0.605 217 691 217 0.556 178 207 56 59 60 1.633 7396 chr1 248112836 248112836 A G rs4925792 OR2L8 Nonsynonymous SNV H226R 0.94 0.94 0.915 369 1103 361 0.946 269 516 171 125 174 0.001 7397 chr1 241755348 241755348 C T rs1053230 KMO Nonsynonymous SNV R452C 0.222 0.214 0.245 98 261 82 0.251 72 35 6 7 13 13.76 7398 chr11 562421 562421 G A rs2242182 RASSF7 Nonsynonymous SNV R156Q 0.049 0.057 0.037 23 57 22 0.059 11 2 1 0 1 1.408 7399 chr1 248112915 248112915 A G rs10888280 OR2L8 Synonymous SNV A252A 0.305 0.234 0.31 117 358 90 0.3 91 61 8 18 16 0.029 7400 chr11 6913244 6913244 A G rs1965208 OR2D2 Nonsynonymous SNV I163T 0.997 0.995 0.986 388 1170 382 0.995 290 583 190 143 193 5.976 7401 chr1 248113026 248113026 T A rs10888281 OR2L8 Stop gain Y289X 0.94 0.94 0.915 369 1104 361 0.946 269 517 171 125 174 36 7402 chr11 6942476 6942476 C A rs10839658 OR2D3 Nonsynonymous SNV L82I 0.612 0.646 0.568 250 718 248 0.641 167 211 78 45 83 23.6 7403 chr1 248113040 248113040 A G rs10888282 OR2L8 Nonsynonymous SNV K294R 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 19.71 7404 chr11 5629607 5629607 G A rs10769121 TRIM6, TRIM6-TRIM34 Synonymous SNV V77V 0.278 0.339 0.31 117 326 130 0.3 91 47 22 14 15 12.95 7405 chr11 6942695 6942695 C T rs12806437 OR2D3 Nonsynonymous SNV R155W 0.159 0.151 0.173 49 187 58 0.126 51 15 5 4 4 13.3 7406 chr1 248128929 248128929 G A rs6664332 OR2AK2 Nonsynonymous SNV S99N 0.348 0.263 0.374 132 408 101 0.338 110 79 10 24 19 0.002 7407 chr11 6942726 6942726 G C rs10839659 OR2D3 Nonsynonymous SNV W165S 0.342 0.365 0.303 123 402 140 0.315 89 70 26 12 21 29.1 7408 chr11 56185689 56185689 A G rs7931261 OR5R1 Nonsynonymous SNV I7T 0.267 0.263 0.313 109 314 101 0.279 92 49 12 13 19 0.062 7409 chr1 248343543 248343543 C T rs9435919 OR2M2 Synonymous SNV L86L 0.636 0.68 0.622 264 747 261 0.677 183 238 87 62 90 0.304 7410 chr11 6953858 6953858 A G rs11041108 ZNF215 Nonsynonymous SNV M119V 0.307 0.328 0.293 107 361 126 0.274 86 57 23 11 20 0.002 7411 chr11 563257 563257 G A rs34954482 RASSF7 Synonymous SNV Q297Q 0.051 0.063 0.037 26 60 24 0.067 11 2 1 0 1 2.987 7412 chr1 242045283 242045283 T A rs4149984 EXO1 Synonymous SNV S725S 0.033 0.021 0.014 19 39 8 0.049 4 1 0 0 1 9.865 7413 chr1 248343814 248343814 A G rs568153469 OR2M2 Nonsynonymous SNV H176R 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 7414 chr11 56344260 56344260 A G rs10896488 OR5M10 Nonsynonymous SNV I313T 0.226 0.229 0.214 99 265 88 0.254 63 23 9 2 16 0.056 7415 chr1 242159614 242159614 C T rs55813237 MAP1LC3C Nonsynonymous SNV A99T 0.014 0.021 0.017 8 17 8 0.021 5 0 0 0 0 6.921 7416 chr11 695842 695842 G A rs7928305 TMEM80 Synonymous SNV R78R 0.121 0.146 0.214 30 142 56 0.077 63 29 14 7 3 13.68 7417 chr1 248343945 248343945 C G rs4244171 OR2M2 Nonsynonymous SNV R220G 0.597 0.622 0.626 248 701 239 0.636 184 239 86 62 90 4.112 7418 chr11 6976988 6976988 A T rs2239731 ZNF215 Synonymous SNV G22G 0.681 0.669 0.68 250 799 257 0.641 200 266 88 67 79 0.021 7419 chr11 69933891 69933891 G A rs76718681 ANO1 Nonsynonymous SNV E48K 0.104 0.107 0.092 40 122 41 0.103 27 6 1 1 2 4.315 7420 chr1 248343990 248343990 T C rs4916104 OR2M2 Nonsynonymous SNV C235R 0.589 0.62 0.622 244 691 238 0.626 183 239 87 62 90 Benign 0.002 7421 chr11 69934085 69934085 G A rs10898112 ANO1 Synonymous SNV S112S 0.255 0.289 0.279 80 299 111 0.205 82 36 12 12 10 7.007 7422 chr11 56380547 56380550 CAGA - rs71931749 OR5M1 C143Wfs*19 0.225 0.227 0.214 100 264 87 0.256 63 22 8 2 16 7423 chr11 552143 552143 C G rs768027050 LRRC56 Synonymous SNV A364A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.813 7424 chr11 56230245 56230245 C T rs117658855 OR5M9 Synonymous SNV V211V 0.027 0.018 0.024 11 32 7 0.028 7 1 0 0 0 7.701 7425 chr11 70007311 70007311 A G rs2276066 ANO1 Synonymous SNV R541R 0.708 0.682 0.673 267 831 262 0.685 198 291 84 65 93 4.564 7426 chr11 56409603 56409603 C T rs11606499 OR5AP2 Nonsynonymous SNV A105T 0.15 0.161 0.184 50 176 62 0.128 54 8 4 4 1 8.148 7427 chr11 70007392 70007392 A G rs2276067 ANO1 Synonymous SNV A568A 0.725 0.708 0.684 273 851 272 0.7 201 304 92 67 98 0.081 7428 chr1 248366702 248366702 G A rs4916112 OR2M3 Synonymous SNV E111E 0.622 0.659 0.622 256 730 253 0.656 183 219 83 62 84 0.174 7429 chr1 244218402 244218402 G A rs35108413 ZBTB18 Synonymous SNV S433S 0.032 0.031 0.048 15 37 12 0.038 14 0 1 0 1 7.116 7430 chr11 70034096 70034096 G A rs3740722 ANO1 Nonsynonymous SNV G983R 0.149 0.112 0.163 58 175 43 0.149 48 9 4 4 2 22.9 7431 chr1 248366792 248366792 T C rs12562957 OR2M3 Synonymous SNV C141C 0.129 0.128 0.105 44 152 49 0.113 31 6 5 2 3 0.009 7432 chr11 7022160 7022160 A G rs2857919 ZNF214 Nonsynonymous SNV C252R 0.956 0.93 0.939 376 1122 357 0.964 276 537 168 129 182 0.044 7433 chr1 248402758 248402758 C T rs6666148 OR2M4 Synonymous SNV H176H 0.698 0.716 0.694 276 820 275 0.708 204 286 98 70 100 9.957 7434 chr1 248487300 248487300 C T rs4916129 OR2M7 Nonsynonymous SNV D191N 0.472 0.534 0.503 197 554 205 0.505 148 134 53 38 50 19.66 7435 chr11 7022531 7022531 A T rs1156525 ZNF214 Nonsynonymous SNV L128H 0.582 0.565 0.531 209 683 217 0.536 156 196 60 45 53 0.001 7436 chr1 248487338 248487338 C A rs4916130 OR2M7 Nonsynonymous SNV C178F 0.684 0.706 0.687 267 803 271 0.685 202 274 94 67 89 0.211 7437 chr11 7022717 7022717 T C rs1156526 ZNF214 Nonsynonymous SNV Y66C 0.582 0.57 0.554 209 683 219 0.536 163 197 60 45 53 0.044 7438 chr11 56237609 56237609 - CTG rs745971747 OR5M3 M122delinsTV 0.017 0.016 0.003 4 20 6 0.01 1 1 1 0 0 7439 chr11 7059960 7059960 A C rs12801277 NLRP14 Nonsynonymous SNV N48T 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 0.002 7440 chr1 248487638 248487638 A G rs7555310 OR2M7 Nonsynonymous SNV V78A 0.682 0.701 0.687 265 801 269 0.679 202 273 93 67 88 22.9 7441 chr11 7059981 7059981 G A rs61063081 NLRP14 Nonsynonymous SNV R55Q 0.233 0.232 0.245 94 274 89 0.241 72 38 5 8 9 24.2 7442 chr1 248487768 248487768 A G rs7555424 OR2M7 Nonsynonymous SNV F35L 0.682 0.701 0.687 265 801 269 0.679 202 273 93 67 88 23.3 7443 chr11 56237728 56237728 G A rs79240946 OR5M3 Synonymous SNV N82N 0.086 0.068 0.061 23 101 26 0.059 18 1 1 0 0 4.983 7444 chr11 7063755 7063755 C T rs7123944 NLRP14 Synonymous SNV F166F 0.993 0.995 0.993 387 1166 382 0.992 292 579 190 145 192 13.76 7445 chr1 248512094 248512094 C T rs28728105 OR14C36 Synonymous SNV T6T 0.5 0.552 0.503 205 587 212 0.526 148 155 54 39 54 12.3 7446 chr11 7071031 7071031 G A rs1552726 NLRP14 Synonymous SNV E751E 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 8.362 7447 chr1 248512637 248512637 C T rs2039824 OR14C36 Synonymous SNV C187C 0.499 0.552 0.507 204 586 212 0.523 149 154 54 39 54 11.87 7448 chr11 7079038 7079038 G A rs10839708 NLRP14 Nonsynonymous SNV E808K 0.56 0.534 0.537 202 658 205 0.518 158 182 53 41 51 32 7449 chr11 562437 562437 G A rs11246189 RASSF7 Synonymous SNV R161R 0.2 0.234 0.245 81 235 90 0.208 72 25 13 5 8 5.813 7450 chr1 248512749 248512749 G A rs28377739 OR14C36 Nonsynonymous SNV G225R 0.499 0.552 0.507 205 586 212 0.526 149 154 54 39 54 2.233 7451 chr1 247006051 247006051 G C rs12410563 AHCTF1 Nonsynonymous SNV L2185V 0.194 0.208 0.017 98 228 80 0.251 5 19 11 1 10 0.001 7452 chr11 7091569 7091569 C T rs17280682 NLRP14 Nonsynonymous SNV L1010F 0.233 0.229 0.235 94 273 88 0.241 69 38 5 8 9 22.2 7453 chr1 248512767 248512767 G T rs28545014 OR14C36 Nonsynonymous SNV D231Y 0.499 0.552 0.503 205 586 212 0.526 148 154 54 39 54 24.5 7454 chr11 7110548 7110548 C T rs11041170 RBMXL2 Nonsynonymous SNV A66V 0.263 0.294 0.255 104 309 113 0.267 75 43 13 10 10 16.05 7455 chr1 248525639 248525639 A - rs34079073 OR2T4 I253Sfs*8 0.485 0.529 0.486 199 569 203 0.51 143 135 49 33 52 7456 chr11 7110751 7110751 A G rs11041171 RBMXL2 Nonsynonymous SNV T134A 0.964 0.958 0.956 371 1132 368 0.951 281 565 184 140 185 0.001 7457 chr1 248550976 248550976 T G rs6587467 OR2T6 Nonsynonymous SNV C23G 0.67 0.688 0.653 258 786 264 0.662 192 265 89 58 83 0.011 7458 chr1 247143268 247143268 T C rs10924880 ZNF670-ZNF695 0.389 0.422 0 149 457 162 0.382 0 181 66 0 57 0.012 7459 chr1 247150739 247150739 C T rs61753584 ZNF695 Nonsynonymous SNV A360T 0.009 0.008 0.007 12 10 3 0.031 2 0 0 0 0 24.1 7460 chr11 56468155 56468155 T G rs11228732 OR9G1, OR9G9 Nonsynonymous SNV C98G 0.221 0.224 0.245 81 259 86 0.208 72 0 0 0 0 1.683 7461 chr11 71118568 71118568 A C rs1790361 FLJ42102 0 0 0.895 0 0 0 0 263 0 0 121 0 1.142 7462 chr1 248569369 248569369 A G rs28599722 OR2T1 Nonsynonymous SNV H25R 0.509 0.552 0.503 203 598 212 0.521 148 154 56 35 53 0.021 7463 chr11 71118681 71118681 A G rs1792243 FLJ42102 0 0 0.901 0 0 0 0 265 0 0 121 0 1.557 7464 chr11 71118788 71118788 C A rs4944042 FLJ42102 0 0 0.558 0 0 0 0 164 0 0 46 0 9.754 7465 chr11 71118825 71118825 G C rs4944043 FLJ42102 0 0 0.612 0 0 0 0 180 0 0 54 0 2.627 7466 chr11 71146577 71146577 G A rs909217 DHCR7 Synonymous SNV G424G 0.732 0.714 0.697 278 859 274 0.713 205 320 96 73 100 Benign 13.32 7467 chr1 248685253 248685253 T C rs9727474 OR2G6 Synonymous SNV Y102Y 0.994 1 0.997 387 1167 384 0.992 293 581 192 146 192 0.002 7468 chr11 71146691 71146691 A G rs760241 DHCR7 Synonymous SNV D386D 0.929 0.901 0.918 368 1091 346 0.944 270 509 157 125 175 Benign 0.007 7469 chr1 248685719 248685719 A T rs9330305 OR2G6 Nonsynonymous SNV M258L 0.142 0.156 0.122 55 167 60 0.141 36 14 7 1 6 20.8 7470 chr11 562219 562219 C G rs2242183 RASSF7 Nonsynonymous SNV P89A 0.078 0.068 0.071 30 92 26 0.077 21 1 1 1 2 24.7 7471 chr11 71152461 71152461 A G rs949177 DHCR7 Synonymous SNV N146N 0.931 0.906 0.918 368 1093 348 0.944 270 510 159 125 175 Benign 0.214 7472 chr1 248789504 248789504 T C rs1892442 OR2T11 Nonsynonymous SNV Q309R 0.983 0.979 0.976 378 1154 376 0.969 287 568 186 141 186 0.258 7473 chr11 71155153 71155153 A G rs1790334 DHCR7 Synonymous SNV T69T 0.931 0.906 0.918 368 1093 348 0.944 270 510 159 125 175 Benign 0.13 7474 chr1 247264615 247264615 A C rs201042008 ZNF669 Nonsynonymous SNV H66Q 0.007 0.005 0 10 8 2 0.026 0 0 0 0 0 0.324 7475 chr11 71155171 71155171 C T rs1044482 DHCR7 Synonymous SNV Q63Q 0.729 0.716 0.694 278 856 275 0.713 204 317 99 72 100 Benign 8.852 7476 chr1 248790075 248790075 A G rs1892443 OR2T11 Nonsynonymous SNV C119R 0.982 0.979 0.976 378 1153 376 0.969 287 567 186 141 186 0.003 7477 chr11 71169547 71169547 G C rs2276360 NADSYN1 Nonsynonymous SNV V74L 0.733 0.719 0.694 278 860 276 0.713 204 320 99 70 100 0.133 7478 chr1 247587408 247587408 C T rs7525979 NLRP3 Synonymous SNV T221T 0.078 0.086 0.082 33 92 33 0.085 24 3 1 0 2 Benign 1.364 7479 chr11 71184678 71184678 A C rs7950441 NADSYN1 Nonsynonymous SNV Q204H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.003 7480 chr1 248845097 248845097 C T rs2000390 OR14I1 Nonsynonymous SNV S170N 0.911 0.898 0.929 341 1070 345 0.874 273 485 155 127 152 0.002 7481 chr11 71185479 71185479 T C rs2276354 NADSYN1 Synonymous SNV C235C 0.931 0.906 0.915 368 1093 348 0.944 269 510 159 124 175 3.333 7482 chr1 247614617 247614617 C T rs4925663 OR2B11 Nonsynonymous SNV G223D 0.296 0.279 0.289 129 347 107 0.331 85 54 12 13 15 24.1 7483 chr1 248845411 248845411 G A rs11485825 OR14I1 Synonymous SNV S65S 0.914 0.901 0.929 344 1073 346 0.882 273 488 156 127 154 6.998 7484 chr11 71185518 71185518 T C rs2186778 NADSYN1 Synonymous SNV I248I 0.928 0.904 0.915 368 1090 347 0.944 269 508 158 124 175 0.295 7485 chr1 248845458 248845458 C T rs4509608 OR14I1 Nonsynonymous SNV D50N 0.918 0.911 0.932 347 1078 350 0.89 274 492 160 128 156 23.5 7486 chr11 56468440 56468440 G T rs12421330 OR9G1, OR9G9 Nonsynonymous SNV G193C 0.394 0.409 0.248 159 462 157 0.408 73 0 0 0 0 21.1 7487 chr11 56380134 56380134 C G rs4939078 OR5M1 Nonsynonymous SNV S282T 0.363 0.396 0.313 139 426 152 0.356 92 76 29 17 23 24 7488 chr11 71259822 71259822 A G rs10792769 KRTAP5-9 Nonsynonymous SNV Y40C 0.145 0.146 0.201 65 170 56 0.167 59 11 4 7 4 13.4 7489 chr11 556048 556048 G A rs199751579 LMNTD2 Nonsynonymous SNV P442L 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 0.003 7490 chr11 71727422 71727422 A C rs1057992 LOC100128494 0.986 0.992 0.976 382 1157 381 0.979 287 570 189 140 187 0.03 7491 chr1 248845471 248845471 T C rs4575113 OR14I1 Synonymous SNV A45A 0.986 0.997 0.986 385 1157 383 0.987 290 570 191 143 190 0.083 7492 chr11 56409010 56409010 A T rs61747872 OR5AP2 Nonsynonymous SNV D302E 0.08 0.096 0.054 37 94 37 0.095 16 3 1 1 1 3.953 7493 chr11 71728543 71728543 - A rs34393610 LOC100128494 0 0 0.925 0 0 0 0 272 0 0 126 0 7494 chr1 248845499 248845499 A G rs4462184 OR14I1 Nonsynonymous SNV V36A 0.986 0.997 0.983 385 1158 383 0.987 289 571 191 142 190 0.002 7495 chr1 247614896 247614896 A C rs11583410 OR2B11 Nonsynonymous SNV I130S 0.487 0.539 0.49 194 572 207 0.497 144 136 56 36 53 25.3 7496 chr11 71728909 71728914 GTCAAC - rs11278712 LOC100128494 0.909 0.924 0.796 355 1067 355 0.91 234 505 172 115 168 7497 chr11 720197 720197 C T rs3087546 EPS8L2 Synonymous SNV L101L 0.537 0.508 0.571 205 630 195 0.526 168 169 49 51 55 12.1 7498 chr1 249107339 249107339 C T rs754498353 SH3BP5L Nonsynonymous SNV R68Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 7499 chr11 72281818 72281818 A G rs380126 LINC01537 0 0 0.898 0 0 0 0 264 0 0 118 0 2.742 7500 chr1 247615252 247615252 G A rs12028142 OR2B11 Synonymous SNV D11D 0.096 0.099 0.116 56 113 38 0.144 34 6 0 3 6 0.002 7501 chr11 72281884 72281884 C T rs433640 LINC01537 0 0 0.84 0 0 0 0 247 0 0 103 0 7.551 7502 chr1 247615262 247615262 A - rs35305980 OR2B11 F8Sfs*2 0.384 0.383 0.371 156 451 147 0.4 109 85 28 25 25 7503 chr2 45895 45895 A G rs4241318 FAM110C Nonsynonymous SNV I164T 0.993 0.982 0.973 386 1166 377 0.99 286 581 188 140 191 0.248 7504 chr11 72288599 72288599 G A rs1980091 PDE2A Synonymous SNV Y878Y 0.308 0.328 0.354 126 362 126 0.323 104 48 11 19 21 9.563 7505 chr11 72293602 72293602 A G rs4944557 PDE2A Synonymous SNV D572D 0.997 0.997 0.997 389 1170 383 0.997 293 583 191 146 194 0.07 7506 chr11 72308651 72308651 G A rs145524236 PDE2A Synonymous SNV I105I 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 7.233 7507 chr11 72408657 72408657 C T rs2291289 ARAP1 Synonymous SNV L619L 0.456 0.411 0.425 192 535 158 0.492 125 128 29 27 45 11.42 7508 chr1 247694949 247694949 G C rs6702693 OR2C3 Nonsynonymous SNV L289V 0.17 0.203 0.143 72 200 78 0.185 42 23 5 3 5 0.833 7509 chr2 242800 242800 T C rs10181051 SH3YL1 Star tloss M1? 0.392 0.346 0.371 130 460 133 0.333 109 90 24 19 20 12.36 7510 chr11 72415329 72415329 G A rs2306615 ARAP1 Synonymous SNV N375N 0.068 0.078 0.085 25 80 30 0.064 25 3 1 2 1 13.76 7511 chr2 1079320 1079320 C T rs4971432 SNTG2 Synonymous SNV G63G 0.758 0.742 0.731 319 890 285 0.818 215 336 101 80 127 12.3 7512 chr11 72945341 72945341 C T rs2511241 P2RY2 Nonsynonymous SNV P46L 0.919 0.94 0.949 367 1079 361 0.941 279 495 169 133 172 10.29 7513 chr1 247694958 247694958 G A rs6702695 OR2C3 Synonymous SNV L286L 0.233 0.284 0.177 100 273 109 0.256 52 40 16 5 12 0.158 7514 chr2 1168781 1168781 C A rs28505970 SNTG2 Nonsynonymous SNV S168Y 0.184 0.201 0.211 57 216 77 0.146 62 18 10 7 3 25.4 7515 chr11 72946020 72946020 C T rs1783596 P2RY2 Synonymous SNV R272R 0.583 0.607 0.575 214 684 233 0.549 169 210 69 51 54 11.47 7516 chr11 73020058 73020058 C T rs12272360 ARHGEF17 Synonymous SNV S125S 0.126 0.081 0.116 35 148 31 0.09 34 15 1 2 2 21.5 7517 chr2 1271230 1271230 A G rs13023962 SNTG2 Nonsynonymous SNV I391V 0.298 0.299 0.31 104 350 115 0.267 91 50 21 15 11 0.002 7518 chr11 73020375 73020375 - CTC rs113363731 ARHGEF17 S235_I236insS 0.196 0.146 0.17 65 230 56 0.167 50 32 3 6 5 7519 chr11 73076590 73076590 C T rs61749197 ARHGEF17 Synonymous SNV P1902P 0.116 0.07 0.116 35 136 27 0.09 34 10 1 2 2 9.388 7520 chr11 56468638 56468638 G T rs7121276 OR9G1, OR9G9 Nonsynonymous SNV A259S 0.142 0.151 0.167 48 167 58 0.123 49 0 0 0 0 0.002 7521 chr2 1320143 1320143 C T rs4927635 SNTG2 Nonsynonymous SNV T495M 0.6 0.599 0.599 243 704 230 0.623 176 210 66 51 74 12.62 7522 chr11 7324475 7324475 T C rs4412741 SYT9 Synonymous SNV D117D 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.622 7523 chr11 73715542 73715542 G A rs2075577 UCP3 Synonymous SNV Y210Y 0.457 0.458 0.452 190 536 176 0.487 133 113 43 28 48 1.383 7524 chr11 73717254 73717254 A G rs1800006 UCP3 Synonymous SNV Y99Y 0.155 0.195 0.156 68 182 75 0.174 46 12 6 2 6 0.008 7525 chr2 1460004 1460004 G T rs4927611 TPO Nonsynonymous SNV A257S 0.404 0.393 0.408 164 474 151 0.421 120 90 34 27 31 Benign 6.632 7526 chr11 73785326 73785326 T C rs4453265 C2CD3 Synonymous SNV V1641V 0.413 0.393 0.408 174 485 151 0.446 120 94 28 26 39 8.534 7527 chr11 73806443 73806443 C T rs11235995 C2CD3 Nonsynonymous SNV R997Q 0.104 0.151 0.122 53 122 58 0.136 36 5 1 1 3 11.93 7528 chr2 1481155 1481155 G T rs2280132 TPO Nonsynonymous SNV A373S 0.44 0.451 0.425 159 517 173 0.408 125 110 40 28 32 Benign 0.006 7529 chr11 73825503 73825503 T C rs10898957 C2CD3 Synonymous SNV P552P 0.103 0.148 0.116 52 121 57 0.133 34 5 1 1 3 0.363 7530 chr2 1481231 1481231 G C rs2175977 TPO Nonsynonymous SNV S398T 0.583 0.576 0.537 198 684 221 0.508 158 197 65 42 47 Benign 23.5 7531 chr11 73978243 73978243 G A rs3741132 P4HA3 Stop gain Q560X 0.098 0.13 0.105 48 115 50 0.123 31 4 1 1 3 13.46 7532 chr11 73988030 73988030 C T rs147361425 P4HA3 Synonymous SNV T445T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.98 7533 chr2 1497803 1497803 C T rs1126797 TPO Synonymous SNV D493D 0.343 0.38 0.381 167 403 146 0.428 112 70 28 19 36 Benign 10.64 7534 chr11 73988167 73988167 C T rs2282488 P4HA3 Nonsynonymous SNV D400N 0.096 0.125 0.102 48 113 48 0.123 30 4 1 1 3 22.1 7535 chr2 1499899 1499899 C T rs732608 TPO Synonymous SNV P542P 0.393 0.419 0.418 179 461 161 0.459 123 88 35 24 43 Benign 11.43 7536 chr1 247886949 247886949 T C rs36075193 OR14A2 Nonsynonymous SNV I133V 0.117 0.138 0.085 54 137 53 0.138 25 5 8 2 4 1.059 7537 chr11 74049569 74049569 A G rs3867270 PGM2L1 Synonymous SNV S570S 0.59 0.635 0.571 222 693 244 0.569 168 209 73 46 65 5.992 7538 chr11 74053547 74053547 C T rs592644 PGM2L1 Nonsynonymous SNV V531I 0.715 0.745 0.667 265 839 286 0.679 196 300 105 66 95 12.97 7539 chr2 1499927 1499927 A C rs732609 TPO Nonsynonymous SNV T552P 0.393 0.419 0.418 179 461 161 0.459 123 88 35 24 43 Benign 0.085 7540 chr11 74203308 74203308 T A rs586088 LIPT2 Nonsynonymous SNV T190S 0.566 0.602 0.531 198 665 231 0.508 156 187 69 43 48 22.7 7541 chr2 1520676 1520676 T C rs1126799 TPO Nonsynonymous SNV V803A 0.458 0.477 0.469 203 538 183 0.521 138 126 45 33 51 Benign 0.018 7542 chr11 74204269 74204269 T G rs10736798 LIPT2 Synonymous SNV G160G 0.997 0.997 0.993 387 1170 383 0.992 292 583 191 145 192 6.517 7543 chr11 5664831 5664831 C A rs3740998 TRIM34, TRIM6-TRIM34 Synonymous SNV G453G 0.27 0.326 0.276 84 317 125 0.215 81 39 18 14 11 14.02 7544 chr2 1647171 1647171 T C rs6730800 PXDN Synonymous SNV V1307V 0.928 0.93 0.915 361 1089 357 0.926 269 505 166 123 167 Benign 0.712 7545 chr11 74204727 74204727 A G rs4944895 LIPT2 Synonymous SNV L8L 0.986 0.99 0.942 381 1157 380 0.977 277 578 190 138 190 12.28 7546 chr2 1652660 1652660 G A rs3811613 PXDN Synonymous SNV N964N 0.319 0.346 0.323 129 375 133 0.331 95 52 20 19 22 Benign 7.818 7547 chr11 74208029 74208029 C T rs655025 LOC100287896 Synonymous SNV L27L 0.565 0.604 0.531 198 663 232 0.508 156 186 70 43 48 3.503 7548 chr11 74329615 74329615 T C rs4944052 POLD3 Synonymous SNV P103P 0.384 0.372 0.391 148 451 143 0.379 115 88 28 24 28 9.698 7549 chr2 1652822 1652822 T G rs1863135 PXDN Synonymous SNV I910I 0.928 0.93 0.912 361 1089 357 0.926 268 505 166 123 167 Benign 7.706 7550 chr11 56757021 56757021 G A rs61886711 OR5AK2 Synonymous SNV G211G 0.208 0.229 0.211 68 244 88 0.174 62 28 7 8 6 1.744 7551 chr11 7439264 7439264 C T rs34058874 SYT9 Synonymous SNV T414T 0.181 0.206 0.139 73 212 79 0.187 41 15 7 3 9 11.11 7552 chr11 7441737 7441737 T C rs11041372 SYT9 Synonymous SNV R446R 0.173 0.201 0.139 70 203 77 0.179 41 14 7 3 8 9.706 7553 chr2 1664654 1664654 A G rs17841813 PXDN Synonymous SNV N612N 0.695 0.703 0.629 262 816 270 0.672 185 283 96 59 83 Benign 0.308 7554 chr11 56954846 56954846 C T rs716745 LRRC55 Synonymous SNV F263F 0.344 0.333 0.279 115 404 128 0.295 82 64 14 13 12 17 7555 chr11 74419357 74419357 C T rs1944937 CHRDL2 Synonymous SNV Q107Q 0.71 0.737 0.738 288 834 283 0.738 217 302 104 84 105 13.45 7556 chr11 74419378 74419378 C T rs7948433 CHRDL2 Synonymous SNV P100P 0.306 0.32 0.337 139 359 123 0.356 99 56 21 19 25 16.19 7557 chr2 1842968 1842968 T C rs6728368 MYT1L Synonymous SNV G1011G 0.336 0.367 0.255 142 395 141 0.364 75 59 27 11 33 2.842 7558 chr11 74705696 74705696 T C rs544115 NEU3 Synonymous SNV S79S 0.754 0.766 0.799 290 885 294 0.744 235 341 110 97 108 5.892 7559 chr2 1926437 1926437 G T rs1529667 MYT1L Synonymous SNV P368P 0.971 0.966 0.973 378 1140 371 0.969 286 553 179 139 185 0.169 7560 chr11 74880357 74880357 G A rs75987864 SLCO2B1 Synonymous SNV Q52Q 0.009 0 0.014 5 10 0 0.013 4 0 0 0 0 9.44 7561 chr11 74904362 74904362 T C rs1621378 SLCO2B1 Nonsynonymous SNV I248T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.038 7562 chr2 3392075 3392075 T C rs10865541 TRAPPC12 Synonymous SNV F227F 0.572 0.549 0.639 242 672 211 0.621 188 196 64 65 77 1.882 7563 chr2 3481531 3481531 T C rs11548215 TRAPPC12 Synonymous SNV D614D 0.073 0.052 0.088 32 86 20 0.082 26 1 0 2 0 1.821 7564 chr11 75141630 75141630 T C rs11236430 KLHL35 Synonymous SNV E15E 0.605 0.609 0.616 239 710 234 0.613 181 224 76 60 69 6.408 7565 chr11 75152243 75152243 C T rs571353 GDPD5 Nonsynonymous SNV A342T 0.755 0.727 0.796 298 886 279 0.764 234 339 102 92 111 15.18 7566 chr11 560710 560710 A G rs200922487 LMNTD2 Nonsynonymous SNV W3R 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 0.003 7567 chr2 3597974 3597974 T C rs10186193 RNASEH1 Synonymous SNV P140P 0.379 0.391 0.374 144 445 150 0.369 110 84 28 20 25 Benign 0.274 7568 chr11 75160575 75160575 G A rs518611 GDPD5 Synonymous SNV R47R 0.638 0.604 0.673 242 749 232 0.621 198 239 65 64 75 10.91 7569 chr2 3749152 3749154 GAA - rs201406139 ALLC E303del 0.486 0.479 0.52 174 570 184 0.446 153 128 49 37 41 7570 chr11 75277628 75277628 A G rs584961 SERPINH1 Synonymous SNV L78L 0.936 0.917 0.915 370 1099 352 0.949 269 514 161 123 175 Benign 0.643 7571 chr2 3816957 3816957 G A rs79406267 DCDC2C Nonsynonymous SNV V170I 0.038 0.023 0.044 9 45 9 0.023 13 0 0 1 0 11.2 7572 chr11 75277757 75277757 C G rs650241 SERPINH1 Synonymous SNV S121S 0.279 0.307 0.272 112 327 118 0.287 80 49 22 7 11 Benign 8.634 7573 chr11 57146202 57146202 G A rs1940145 PRG3 Synonymous SNV S153S 0.086 0.089 0.068 40 101 34 0.103 20 4 3 2 1 0.574 7574 chr11 75279846 75279846 C T rs649257 SERPINH1 Synonymous SNV T231T 0.279 0.307 0.262 112 327 118 0.287 77 49 22 7 11 Benign 15.92 7575 chr2 7005369 7005369 A G rs11678810 CMPK2 Synonymous SNV C153C 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.679 7576 chr11 75282882 75282882 G A rs585821 SERPINH1 Synonymous SNV L337L 0.279 0.307 0.276 112 328 118 0.287 81 49 22 7 11 Benign 12.28 7577 chr2 7137067 7137067 A G rs364891 RNF144A Nonsynonymous SNV T4A 0.716 0.695 0.697 266 841 267 0.682 205 294 96 73 90 9.965 7578 chr11 75694530 75694530 A G rs143426525 UVRAG Nonsynonymous SNV K267E 0 0 0.007 0 0 0 0 2 0 0 0 0 27 7579 chr2 7154632 7154632 T C rs309325 RNF144A Synonymous SNV T61T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.899 7580 chr11 76257215 76257215 T C rs3753051 EMSY Synonymous SNV T1217T 0.29 0.318 0.316 96 340 122 0.246 93 44 17 16 12 0.203 7581 chr11 76370792 76370792 A G rs4304809 LRRC32 Synonymous SNV P505P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 7582 chr2 8877042 8877042 G A rs61742863 KIDINS220 Synonymous SNV L1169L 0.124 0.12 0.116 34 145 46 0.087 34 13 3 1 0 12.99 7583 chr11 76372052 76372052 A G rs3740779 LRRC32 Synonymous SNV G85G 0.657 0.714 0.673 254 771 274 0.651 198 263 95 65 78 0.004 7584 chr2 8998871 8998871 T C rs16866827 MBOAT2 Nonsynonymous SNV T368A 0.052 0.063 0.02 20 61 24 0.051 6 2 1 0 0 5.256 7585 chr1 248059779 248059779 - A rs112696640 OR2W3 Frameshift insertion A300Gfs*16 0.135 0.138 0.139 51 158 53 0.131 41 11 2 6 6 7586 chr11 76372418 76372418 T C rs3740778 LRRC32 Synonymous SNV T73T 0.899 0.906 0.915 360 1056 348 0.923 269 476 158 123 165 0.028 7587 chr1 248059804 248059804 C T rs77494867 OR2W3 Synonymous SNV L306L 0.059 0.042 0.065 24 69 16 0.062 19 4 0 0 0 7.173 7588 chr11 76400134 76400134 C T rs10899252 GUCY2EP 0 0 0.156 0 0 0 0 46 0 0 3 0 3.7 7589 chr2 9491017 9491017 C T rs4669385 ASAP2 Synonymous SNV L368L 0.997 0.997 0.993 388 1171 383 0.995 292 584 191 145 193 15.59 7590 chr11 76418596 76418596 C T rs12364253 GUCY2EP 0 0 0.153 0 0 0 0 45 0 0 6 0 13.72 7591 chr11 57177593 57177593 A G rs62640922 SLC43A3 Synonymous SNV G354G 0.047 0.047 0.044 24 55 18 0.062 13 0 1 1 1 0.802 7592 chr11 76427674 76427674 G C rs10899265 GUCY2EP 0 0 0.092 0 0 0 0 27 0 0 2 0 7.178 7593 chr2 9514917 9514917 C T rs33930824 ASAP2 Synonymous SNV Y530Y 0.272 0.237 0.235 109 319 91 0.279 69 34 12 8 17 11.14 7594 chr11 76427823 76427823 T C rs11236900 GUCY2EP 0 0 0.092 0 0 0 0 27 0 0 2 0 3.777 7595 chr2 9634856 9634856 A G rs1048610 ADAM17 Synonymous SNV S608S 0.612 0.635 0.551 241 719 244 0.618 162 223 74 43 77 7.372 7596 chr11 76430684 76430684 A C rs35033550 GUCY2EP 0 0 0.16 0 0 0 0 47 0 0 1 0 1.551 7597 chr11 7661048 7661050 CTC - rs143023559 PPFIBP2 P300del 0.064 0.055 0.061 36 75 21 0.092 18 3 2 0 1 7598 chr2 10045014 10045014 C T rs400917 TAF1B Synonymous SNV Y23Y 0.937 0.919 0.922 350 1100 353 0.897 271 516 162 125 155 4.238 7599 chr11 5719750 5719750 G C rs1063303 TRIM22 Nonsynonymous SNV R238T 0.458 0.443 0.507 187 538 170 0.479 149 121 39 39 42 0.143 7600 chr11 7662732 7662732 C T rs4643071 PPFIBP2 Synonymous SNV D323D 0.67 0.682 0.619 227 787 262 0.582 182 259 83 54 66 11.36 7601 chr1 248085108 248085108 C T rs4625315 OR2T8 Synonymous SNV H263H 0.709 0.755 0.759 282 832 290 0.723 223 286 106 85 102 0.692 7602 chr2 10045024 10045024 G A rs396190 TAF1B Nonsynonymous SNV V27I 0.994 0.982 0.993 382 1167 377 0.979 292 580 185 145 187 3.72 7603 chr11 76637651 76637651 G A rs4379869 ACER3 Nonsynonymous SNV V52I 0.795 0.815 0.721 301 933 313 0.772 212 375 126 72 118 7.65 7604 chr1 248085123 248085123 C T rs143297760 OR2T8 Synonymous SNV H268H 0.023 0.018 0.041 10 27 7 0.026 12 0 0 1 0 9.137 7605 chr11 57268252 57268252 C T rs112450479 SLC43A1 Synonymous SNV T155T 0.042 0.042 0.024 20 49 16 0.051 7 1 0 0 1 15.63 7606 chr2 10050947 10050947 T C rs1054561 TAF1B Synonymous SNV A91A 0.678 0.646 0.68 249 796 248 0.638 200 277 76 62 80 9.167 7607 chr11 57080114 57080114 C T TNKS1BP1 Nonsynonymous SNV R683H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.51 7608 chr11 76637680 76637680 G A rs4479014 ACER3 Synonymous SNV K61K 0.79 0.81 0.707 298 928 311 0.764 208 372 124 68 116 12.59 7609 chr11 57313469 57313469 C G rs12223229 SMTNL1 Nonsynonymous SNV R345G 0.423 0.411 0.452 148 497 158 0.379 133 109 31 29 34 14 7610 chr11 76701606 76701606 G A rs3740767 ACER3 Synonymous SNV P105P 0.805 0.823 0.714 302 945 316 0.774 210 382 128 71 120 11.6 7611 chr2 10050960 10050960 A G rs1054565 TAF1B Nonsynonymous SNV T96A 0.678 0.646 0.68 249 796 248 0.638 200 277 76 62 80 5.127 7612 chr11 7670440 7670440 A G rs4758209 PPFIBP2 Nonsynonymous SNV R515G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.21 7613 chr1 248085171 248085171 C T rs150398185 OR2T8 Synonymous SNV N284N 0.023 0.018 0.041 10 27 7 0.026 12 0 0 1 0 8.984 7614 chr1 248112738 248112738 C A rs60155834 OR2L8 Synonymous SNV V193V 0.046 0.039 0.065 17 54 15 0.044 19 0 0 0 0 12.13 7615 chr2 10059770 10059770 G T rs1820965 TAF1B Nonsynonymous SNV E207D 0.67 0.643 0.684 245 787 247 0.628 201 278 79 63 80 0.215 7616 chr11 7673015 7673015 G A rs5864 PPFIBP2 Synonymous SNV E649E 0.666 0.685 0.626 222 782 263 0.569 184 258 83 54 64 11.95 7617 chr11 57137424 57137424 C T rs2276038 P2RX3 Nonsynonymous SNV A383V 0.394 0.417 0.425 145 463 160 0.372 125 91 31 30 27 9.882 7618 chr11 76751542 76751542 T - rs11292198 B3GNT6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7619 chr2 10126330 10126330 G A rs2303920 GRHL1 Nonsynonymous SNV V397I 0.188 0.203 0.241 85 221 78 0.218 71 21 9 6 10 11.54 7620 chr11 76751585 76751585 T - rs11292199 B3GNT6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7621 chr1 248112754 248112754 T C rs201126494 OR2L8 Nonsynonymous SNV F199L 0.138 0.143 0.16 45 162 55 0.115 47 0 0 0 0 12.24 7622 chr11 76751604 76751604 T - rs11292200 B3GNT6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7623 chr11 56143996 56143996 A T rs201080515 OR8U1 Nonsynonymous SNV E299D 0.184 0.167 0 91 216 64 0.233 0 0 0 0 0 0.001 7624 chr2 10188649 10188649 A T rs11687357 KLF11 Synonymous SNV V378V 0.843 0.883 0.806 316 990 339 0.81 237 417 150 98 127 0.344 7625 chr11 76814110 76814110 G A rs2233549 OMP Synonymous SNV P75P 0.196 0.148 0.15 87 230 57 0.223 44 23 4 5 6 5.095 7626 chr2 10262920 10262920 T G rs1130609 RRM2 Nonsynonymous SNV S59A 0.734 0.714 0.724 285 862 274 0.731 213 315 97 73 105 0.701 7627 chr11 76853783 76853783 T C rs1052030 MYO7A Nonsynonymous SNV L16S 0.41 0.443 0.432 159 481 170 0.408 127 112 41 23 30 Benign 8.786 7628 chr11 57582924 57582924 G A rs11570223 CTNND1 Synonymous SNV S792S 0.012 0.018 0.017 2 14 7 0.005 5 0 1 0 0 Benign 14.3 7629 chr11 56143999 56143999 T C rs756474375 OR8U1 Synonymous SNV A300A 0.165 0.148 0 86 194 57 0.221 0 0 0 0 0 0.004 7630 chr11 57076158 57076158 C T rs148468577 TNKS1BP1 Nonsynonymous SNV D1343N 0.012 0.018 0.007 7 14 7 0.018 2 0 0 0 0 29.5 7631 chr11 56144009 56144009 A G rs202220399 OR8U1 Nonsynonymous SNV I304V 0.11 0.07 0 58 129 27 0.149 0 0 0 0 0 0.001 7632 chr2 10908893 10908893 A G rs1198849 ATP6V1C2 Nonsynonymous SNV N143D 0.468 0.497 0.463 199 550 191 0.51 136 126 49 32 48 20.8 7633 chr11 7686674 7686674 T C rs13854 CYB5R2 Synonymous SNV L254L 0.754 0.75 0.684 262 885 288 0.672 201 328 105 67 85 6.566 7634 chr11 76866955 76866955 G A rs56023295 MYO7A Synonymous SNV T96T 0.017 0.029 0.014 10 20 11 0.026 4 0 0 0 0 Benign/Likely benign 2.236 7635 chr2 10912719 10912719 G A rs72777388 ATP6V1C2 Synonymous SNV V207V 0.167 0.146 0.119 74 196 56 0.19 35 13 6 2 6 8.078 7636 chr11 7687715 7687715 T C rs12801394 CYB5R2 Nonsynonymous SNV N209D 0.757 0.753 0.687 263 889 289 0.674 202 332 106 68 86 7.991 7637 chr2 10930903 10930903 T C rs4807 PDIA6 Nonsynonymous SNV K214R 0.394 0.404 0.33 154 463 155 0.395 97 93 27 17 31 20.7 7638 chr11 5717644 5717644 C A rs192306924 TRIM22 Nonsynonymous SNV T61N 0.003 0.016 0.003 1 4 6 0.003 1 0 0 0 0 2.535 7639 chr11 5776595 5776595 T G rs12363178 OR52N4 Nonsynonymous SNV W209G 0.17 0.154 0.129 92 199 59 0.236 38 18 1 1 9 8.883 7640 chr11 76910766 76910766 C T rs7927472 MYO7A Synonymous SNV S1585S 0.511 0.464 0.48 186 600 178 0.477 141 158 41 39 48 Benign 13.69 7641 chr11 57100225 57100225 A G rs2230650 SSRP1 Synonymous SNV Y214Y 0.028 0.021 0.01 6 33 8 0.015 3 0 1 0 0 0.003 7642 chr11 76912636 76912636 A T rs2276288 MYO7A Nonsynonymous SNV S1666C 0.526 0.477 0.493 190 618 183 0.487 145 169 42 39 51 Benign 0.755 7643 chr2 10933249 10933249 C T rs4799 PDIA6 Synonymous SNV R142R 0.572 0.565 0.503 230 672 217 0.59 148 192 64 39 59 13.54 7644 chr2 10942687 10942687 C T rs4758 PDIA6 Synonymous SNV S33S 0.62 0.635 0.585 250 728 244 0.641 172 225 81 48 73 17.99 7645 chr11 76917220 76917220 A G rs2276293 MYO7A Synonymous SNV K1905K 0.481 0.422 0.408 165 565 162 0.423 120 144 37 25 37 Benign 2.25 7646 chr2 10959407 10959407 A C rs72779451 PDIA6 Nonsynonymous SNV N52K 0.169 0.138 0.177 73 198 53 0.187 52 14 3 6 8 0.001 7647 chr11 7711207 7711207 T C rs35699890 OVCH2 Synonymous SNV E559E 0.187 0.174 0.167 72 219 67 0.185 49 27 6 6 9 3.531 7648 chr11 7712523 7712523 G A rs4633461 OVCH2 Nonsynonymous SNV T539I 0.187 0.174 0.167 72 219 67 0.185 49 27 6 6 9 16.12 7649 chr2 10959461 10959461 G T rs72779452 PDIA6 Synonymous SNV A34A 0.169 0.141 0.177 73 198 54 0.187 52 14 3 6 8 0.009 7650 chr11 7712561 7712561 T A rs4519083 OVCH2 Nonsynonymous SNV Q526H 0.186 0.174 0.167 72 218 67 0.185 49 27 6 6 9 1.165 7651 chr2 10959475 10959475 G C rs72779453 PDIA6 Nonsynonymous SNV P30A 0.169 0.141 0.177 73 198 54 0.187 52 14 3 6 8 0.001 7652 chr11 56144014 56144014 T C rs771503802 OR8U1 Synonymous SNV I305I 0.049 0.036 0 21 58 14 0.054 0 0 0 0 0 1.986 7653 chr1 248113061 248113061 C A rs74155337 OR2L8 Nonsynonymous SNV T301K 0.046 0.039 0.068 17 54 15 0.044 20 0 0 1 0 0.217 7654 chr11 57261522 57261522 G A rs141990229 SLC43A1 Nonsynonymous SNV S272L 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 7.53 7655 chr11 7713176 7713176 G A rs74054133 OVCH2 Synonymous SNV D488D 0.124 0.128 0.119 51 145 49 0.131 35 9 4 2 4 5.63 7656 chr2 10960952 10960952 G A rs56025654 PDIA6 Synonymous SNV C13C 0.169 0.141 0.177 73 198 54 0.187 52 14 3 6 8 0.182 7657 chr11 7716855 7716855 T A rs4528317 OVCH2 Nonsynonymous SNV N410Y 0.999 0.995 0.993 388 1173 382 0.995 292 586 190 145 193 5.878 7658 chr1 248128722 248128722 T C rs41304159 OR2AK2 Nonsynonymous SNV V30A 0.044 0.039 0.065 17 52 15 0.044 19 0 0 1 0 6.97 7659 chr2 11053020 11053020 A G rs3732104 KCNF1 Synonymous SNV A156A 0.891 0.883 0.874 348 1046 339 0.892 257 466 151 112 153 3.151 7660 chr11 7721870 7721870 G A rs10839849 OVCH2 Nonsynonymous SNV P292S 0.9 0.906 0.918 355 1057 348 0.91 270 474 158 123 160 10.89 7661 chr2 11053740 11053740 C T rs3732105 KCNF1 Synonymous SNV I396I 0.657 0.659 0.69 239 771 253 0.613 203 265 87 69 74 11.46 7662 chr11 58034543 58034543 C T rs10792156 OR10W1 Nonsynonymous SNV R263Q 0.413 0.419 0.398 175 485 161 0.449 117 98 33 26 39 9.872 7663 chr2 11359120 11359120 G T rs2230774 ROCK2 Nonsynonymous SNV T345N 0.489 0.484 0.544 179 574 186 0.459 160 146 51 41 35 Benign 10.14 7664 chr11 7727872 7727872 T C rs12289558 OVCH2 Nonsynonymous SNV T24A 0.275 0.224 0.262 110 323 86 0.282 77 41 11 12 14 4.433 7665 chr1 248129486 248129486 C T rs74153220 OR2AK2 Nonsynonymous SNV R285W 0.045 0.039 0.068 17 53 15 0.044 20 0 0 1 0 20.3 7666 chr11 57381989 57381989 G A rs4926 SERPING1 Nonsynonymous SNV V480M 0.233 0.219 0.252 95 274 84 0.244 74 32 10 7 7 Benign 23.5 7667 chr2 11702661 11702661 A C rs10929757 GREB1 Nonsynonymous SNV N77T 0.514 0.443 0.527 196 604 170 0.503 155 162 39 41 54 1.153 7668 chr11 77412851 77412851 A G rs7950873 RSF1 Nonsynonymous SNV S475P 0.204 0.193 0.238 93 239 74 0.238 70 26 8 11 9 12.61 7669 chr1 248153613 248153613 A T rs72475092 OR2L1P 0.064 0.063 0.003 27 75 24 0.069 1 3 3 0 2 0.138 7670 chr1 248202344 248202344 G C rs6658141 OR2L2 Nonsynonymous SNV V259L 0.184 0.161 0.201 61 216 62 0.156 59 23 7 7 4 0.182 7671 chr11 77553638 77553638 T C rs585721 AAMDC Synonymous SNV G51G 0.316 0.294 0.388 147 371 113 0.377 114 55 23 26 29 8.464 7672 chr2 11738091 11738091 T C rs1435547 GREB1 Synonymous SNV H713H 0.984 0.99 0.956 384 1155 380 0.985 281 570 188 134 189 0.007 7673 chr11 57254631 57254631 G A rs142620907 SLC43A1 Synonymous SNV F490F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 15.31 7674 chr11 77734209 77734209 T C rs11237362 KCTD14 Synonymous SNV P29P 0.823 0.844 0.81 312 966 324 0.8 238 400 134 96 125 0.279 7675 chr2 11738951 11738951 C T rs1865576 GREB1 Synonymous SNV V766V 0.031 0.034 0.027 19 36 13 0.049 8 0 2 0 0 9.556 7676 chr11 77790653 77790653 T C rs534418 NDUFC2, NDUFC2-KCTD14 Synonymous SNV L46L 0.814 0.841 0.786 303 956 323 0.777 231 414 147 96 127 0.181 7677 chr11 5757893 5757893 T G rs771139346 OR56B1 Synonymous SNV A49A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.017 7678 chr1 248224099 248224099 T C rs6666048 OR2L3 Nonsynonymous SNV I39T 0.168 0.167 0.184 53 197 64 0.136 54 17 4 7 2 0.001 7679 chr2 11752635 11752635 T C rs2304399 GREB1 Synonymous SNV I1007I 0.991 0.992 0.973 382 1164 381 0.979 286 577 189 139 187 0.065 7680 chr11 77921527 77921527 G C rs2512526 USP35 Nonsynonymous SNV A876P 0.959 0.966 0.946 356 1126 371 0.913 278 542 179 132 162 9.707 7681 chr2 11774324 11774324 G A rs2304402 GREB1 Nonsynonymous SNV D1687N 0.527 0.513 0.534 192 619 197 0.492 157 166 55 44 45 8.705 7682 chr1 248224216 248224216 C T rs6658227 OR2L3 Nonsynonymous SNV P78L 0.168 0.167 0.187 53 197 64 0.136 55 17 4 7 2 26.1 7683 chr11 78189653 78189653 T C rs116930926 NARS2 Nonsynonymous SNV K73R 0.036 0.023 0.048 26 42 9 0.067 14 0 0 0 1 Benign 15.79 7684 chr11 5809990 5809990 G A rs11039038 OR52N1 Synonymous SNV I19I 0.071 0.078 0.061 48 83 30 0.123 18 2 1 0 1 7.663 7685 chr2 11810095 11810095 G A rs6432225 NTSR2 Nonsynonymous SNV A54V 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 6.857 7686 chr1 248224294 248224294 C T rs6658256 OR2L3 Nonsynonymous SNV S104L 0.177 0.177 0.19 55 208 68 0.141 56 18 5 7 2 0.002 7687 chr11 78277277 78277277 A G rs10751296 NARS2 Synonymous SNV Y138Y 0.752 0.753 0.714 290 883 289 0.744 210 328 103 73 108 Benign 0.005 7688 chr2 11817812 11817812 G C rs4669769 LPIN1 Nonsynonymous SNV E13D 0.567 0.563 0.544 227 666 216 0.582 160 190 63 46 64 Benign 0.738 7689 chr11 78372536 78372536 G A rs2277277 TENM4 Synonymous SNV L2503L 0.686 0.669 0.636 258 805 257 0.662 187 275 89 56 84 10.91 7690 chr1 248224489 248224489 A G rs56834114 OR2L3 Nonsynonymous SNV Q169R 0.118 0.125 0.037 38 138 48 0.097 11 1 1 0 0 0.001 7691 chr11 78380373 78380373 G A rs757369678 TENM4 Synonymous SNV Y2339Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.078 7692 chr11 78437182 78437182 G A rs689369 TENM4 Synonymous SNV D1164D 0.17 0.193 0.187 68 199 74 0.174 55 20 7 6 6 7.616 7693 chr11 5758646 5758646 T C rs4486660 OR56B1 Synonymous SNV Y300Y 0.066 0.052 0.071 31 77 20 0.079 21 2 0 1 1 0.026 7694 chr2 15601441 15601441 C T rs7590340 NBAS Synonymous SNV L741L 0.75 0.734 0.701 272 881 282 0.697 206 333 101 75 99 7.233 7695 chr11 7847208 7847208 T C rs1482791 OR5P3 Synonymous SNV V104V 0.647 0.607 0.663 259 760 233 0.664 195 248 68 67 89 0.057 7696 chr11 5776479 5776479 A C rs75108386 OR52N4 Nonsynonymous SNV Y170S 0.037 0.039 0.024 19 43 15 0.049 7 2 0 0 0 19.99 7697 chr1 248224578 248224578 T C rs60743763 OR2L3 Nonsynonymous SNV F199L 0.089 0.094 0.027 35 105 36 0.09 8 0 0 0 0 13.37 7698 chr11 5632018 5632018 C A rs61756355 TRIM6 Nonsynonymous SNV L130M 0.027 0.021 0.031 11 32 8 0.028 9 1 0 0 0 26.8 7699 chr2 15607842 15607842 T C rs4668909 NBAS Nonsynonymous SNV K655R 0.735 0.711 0.68 265 863 273 0.679 200 319 93 71 95 1.751 7700 chr11 7847466 7847466 A G rs1482792 OR5P3 Synonymous SNV S18S 0.947 0.94 0.929 372 1112 361 0.954 273 525 171 129 177 0.04 7701 chr11 7847472 7847472 C T rs1482793 OR5P3 Synonymous SNV G16G 0.647 0.607 0.66 259 760 233 0.664 194 248 68 67 89 6.179 7702 chr1 248224586 248224586 C T rs60429598 OR2L3 Synonymous SNV S201S 0.113 0.115 0.054 40 133 44 0.103 16 0 0 0 0 2.587 7703 chr11 56431618 56431618 C T rs77272836 OR5AR1 Synonymous SNV L153L 0.013 0.018 0.003 5 15 7 0.013 1 0 0 0 0 8.168 7704 chr11 78565314 78565314 C G rs17137261 TENM4 Nonsynonymous SNV E506Q 0.032 0.031 0.041 22 37 12 0.056 12 0 0 0 0 27.2 7705 chr2 15614404 15614404 T C rs13014906 NBAS Synonymous SNV R462R 0.75 0.732 0.704 271 880 281 0.695 207 333 101 75 99 0.285 7706 chr1 248224587 248224587 A G rs61525219 OR2L3 Nonsynonymous SNV T202A 0.115 0.12 0.061 40 135 46 0.103 18 0 0 0 0 0.002 7707 chr11 56380836 56380836 A T rs183262731 OR5M1 Nonsynonymous SNV L48Q 0.009 0.005 0 0 11 2 0 0 0 0 0 0 24.5 7708 chr2 15615910 15615910 A G rs1990754 NBAS Synonymous SNV S414S 0.743 0.732 0.701 268 872 281 0.687 206 323 101 74 97 0.002 7709 chr11 7871011 7871011 A G rs4758022 OR5E1P 0 0 0.922 0 0 0 0 271 0 0 127 0 9.732 7710 chr2 15674686 15674686 T C rs13029846 NBAS Nonsynonymous SNV I243V 0.735 0.714 0.667 262 863 274 0.672 196 318 95 64 92 0.107 7711 chr11 7949350 7949350 A G rs4758258 OR10A6 Nonsynonymous SNV L287P 0.736 0.75 0.772 299 864 288 0.767 227 316 103 83 115 4.997 7712 chr1 248224754 248224754 T C rs55893924 OR2L3 Synonymous SNV T257T 0.177 0.177 0.19 55 208 68 0.141 56 18 5 7 2 0.006 7713 chr11 57799109 57799109 C - rs34846253 OR6Q1 L229Cfs*21 0.132 0.169 0.156 75 155 65 0.192 46 10 4 5 8 7714 chr11 7949707 7949707 A G rs111488559 OR10A6 Nonsynonymous SNV F168S 0.022 0.029 0.014 15 26 11 0.038 4 0 0 0 0 23.8 7715 chr2 15735648 15735648 T C rs2302929 DDX1 Synonymous SNV L35L 0.181 0.177 0.187 66 213 68 0.169 55 22 5 5 8 3.678 7716 chr2 15747393 15747393 C T rs10929378 DDX1 Synonymous SNV N304N 0.548 0.615 0.619 214 643 236 0.549 182 185 75 53 58 12.99 7717 chr11 7949791 7949791 A C rs7933807 OR10A6 Nonsynonymous SNV V140G 0.441 0.448 0.429 175 518 172 0.449 126 120 31 28 36 14.31 7718 chr2 16080157 16080157 C G rs11886063 MYCNOS 0.999 1 0 389 1173 384 0.997 0 586 192 0 194 10.13 7719 chr11 57958497 57958497 T C rs34337292 OR9Q2 Nonsynonymous SNV C179R 0.15 0.19 0.17 63 176 73 0.162 50 12 5 4 3 25.9 7720 chr2 17696573 17696573 C T rs834514 RAD51AP2 Nonsynonymous SNV G1037D 0.583 0.568 0.561 228 684 218 0.585 165 191 67 50 68 9.475 7721 chr11 5701074 5701074 C A rs11601507 TRIM5 Nonsynonymous SNV V112F 0.097 0.117 0.102 40 114 45 0.103 30 8 3 0 4 17.04 7722 chr11 7949860 7949860 G A rs7928451 OR10A6 Nonsynonymous SNV A117V 0.44 0.44 0.429 175 517 169 0.449 126 118 30 27 36 8.443 7723 chr2 17698678 17698678 A G rs665312 RAD51AP2 Synonymous SNV S335S 0.622 0.622 0.633 239 730 239 0.613 186 225 77 65 73 0.332 7724 chr11 8014479 8014479 C T rs4758267 EIF3F Synonymous SNV H187H 0.761 0.776 0.748 312 894 298 0.8 220 338 114 80 124 18.3 7725 chr2 17942775 17942775 T A rs1812152 GEN1 Nonsynonymous SNV S92T 0.629 0.643 0.653 245 738 247 0.628 192 236 74 60 80 3.418 7726 chr11 802379 802379 T C rs10902221 PIDD1 Nonsynonymous SNV Q331R 0.437 0.417 0.452 173 513 160 0.444 133 107 38 34 38 0.009 7727 chr11 57137371 57137371 G A rs2276039 P2RX3 Synonymous SNV T365T 0.382 0.422 0.398 137 449 162 0.351 117 84 34 26 25 7.704 7728 chr11 804212 804212 C A rs7104785 PIDD1 Synonymous SNV L59L 0.442 0.424 0.456 176 519 163 0.451 134 109 41 34 39 10.59 7729 chr2 17954027 17954027 G A rs300175 GEN1 Nonsynonymous SNV S310N 1 1 0.986 389 1174 384 0.997 290 587 192 144 194 0.001 7730 chr11 823809 823809 C G rs1135628 PNPLA2 Synonymous SNV P291P 0.331 0.357 0.388 127 389 137 0.326 114 54 22 20 18 Benign 9.007 7731 chr11 82443672 82443672 C G rs6592081 FAM181B Nonsynonymous SNV R367P 0.274 0.294 0.446 111 322 113 0.285 131 59 31 31 21 11.46 7732 chr2 17962450 17962450 A G rs300168 GEN1 Synonymous SNV E657E 0.528 0.529 0.514 214 620 203 0.549 151 167 51 39 58 7.904 7733 chr11 58318619 58318619 C G rs1047979 LPXN Synonymous SNV L115L 0.538 0.56 0.52 219 632 215 0.562 153 171 60 40 60 10.02 7734 chr11 82444216 82444216 C G rs986097 FAM181B Nonsynonymous SNV V186L 0.285 0.323 0.388 119 335 124 0.305 114 48 25 24 14 1.262 7735 chr2 17962518 17962518 C T rs300169 GEN1 Nonsynonymous SNV T680I 0.628 0.641 0.646 244 737 246 0.626 190 236 73 60 79 1.943 7736 chr11 8246181 8246181 A G rs1042359 LMO1 Synonymous SNV F150F 0.122 0.104 0.136 41 143 40 0.105 40 10 2 2 1 7.96 7737 chr2 17962994 17962998 AAGTT - rs149936944 GEN1 K839Efs*2 0.067 0.07 0.054 26 79 27 0.067 16 4 0 0 2 7738 chr11 824789 824789 T C rs1138693 PNPLA2 Nonsynonymous SNV L481P 0.629 0.607 0.568 248 739 233 0.636 167 222 69 46 75 Benign 5.032 7739 chr2 17998025 17998025 A T rs34069439 MSGN1 Nonsynonymous SNV E80D 0.673 0.607 0.687 254 790 233 0.651 202 268 73 69 82 0.002 7740 chr11 8251921 8251921 G C rs3750952 LMO1 Synonymous SNV A51A 0.577 0.589 0.527 226 677 226 0.579 155 202 68 42 67 11 7741 chr11 82564294 82564294 T G rs2229437 PRCP Nonsynonymous SNV E7D 0.221 0.203 0.255 98 259 78 0.251 75 23 5 8 15 22.3 7742 chr2 17998095 17998095 C T rs35858730 MSGN1 Nonsynonymous SNV H104Y 0.667 0.596 0.68 254 783 229 0.651 200 262 70 67 82 0.002 7743 chr11 82643760 82643760 G T rs7947780 DDIAS Nonsynonymous SNV R460S 0.346 0.375 0.299 176 406 144 0.451 88 68 27 9 44 5.739 7744 chr2 17998331 17998331 T C rs13001625 MSGN1 Synonymous SNV L182L 0.649 0.57 0.663 252 762 219 0.646 195 249 62 64 80 0.195 7745 chr2 18112473 18112473 G A rs4240213 KCNS3 Synonymous SNV E66E 0.962 0.956 0.949 383 1129 367 0.982 279 542 175 132 188 0.2 7746 chr11 82644904 82644904 G A rs7130899 DDIAS Nonsynonymous SNV V842I 0.514 0.521 0.527 221 603 200 0.567 155 147 47 37 67 0.001 7747 chr2 18113508 18113508 G A rs3747516 KCNS3 Synonymous SNV K411K 0.165 0.156 0.143 70 194 60 0.179 42 17 4 3 9 4.851 7748 chr11 82875359 82875359 G A rs7130527 PCF11 Synonymous SNV Q206Q 0.133 0.135 0.129 41 156 52 0.105 38 13 2 4 5 7.747 7749 chr2 18113623 18113623 A G rs4832524 KCNS3 Nonsynonymous SNV T450A 0.681 0.654 0.643 273 800 251 0.7 189 275 83 59 94 0.224 7750 chr11 82880341 82880341 G A rs12284052 PCF11 Synonymous SNV Q1119Q 0.145 0.146 0.136 46 170 56 0.118 40 16 2 4 5 0.06 7751 chr11 828916 828916 G A rs7126805 CRACR2B Nonsynonymous SNV R77Q 0.598 0.589 0.592 242 702 226 0.621 174 215 68 49 79 18.07 7752 chr2 20101487 20101487 G A rs2304589 TTC32 Synonymous SNV S43S 0.28 0.271 0.177 108 329 104 0.277 52 38 15 3 12 6.881 7753 chr2 20131079 20131079 T C rs1191778 WDR35 Nonsynonymous SNV E972G 0.385 0.409 0.415 130 452 157 0.333 122 83 31 23 18 Benign 23.8 7754 chr11 82996986 82996986 A C rs494791 CCDC90B Nonsynonymous SNV F10L 0.75 0.721 0.701 278 880 277 0.713 206 336 104 72 99 0.003 7755 chr2 224919 224919 A G rs2290911 SH3YL1 Synonymous SNV S261S 0.312 0.299 0.286 107 366 115 0.274 84 55 20 13 16 11.58 7756 chr11 83673931 83673931 G A rs140599607 DLG2 Nonsynonymous SNV T290I 0 0 0.007 2 0 0 0.005 2 0 0 0 0 22.1 7757 chr2 20135283 20135283 T C rs6741091 WDR35 Synonymous SNV E832E 0.5 0.5 0.408 207 587 192 0.531 120 144 48 27 49 Benign 1.327 7758 chr2 20173334 20173334 G A rs758121308 WDR35 Nonsynonymous SNV P291L 0.004 0 0 4 5 0 0.01 0 0 0 0 0 25.6 7759 chr11 837582 837582 G A rs1130663 CD151 Synonymous SNV G193G 0.552 0.565 0.571 211 648 217 0.541 168 181 58 42 64 3.195 7760 chr2 272203 272203 C T rs11553746 ACP1 Nonsynonymous SNV T95I 0.319 0.305 0.293 109 375 117 0.279 86 56 20 13 16 12.22 7761 chr11 840477 840477 A G rs4895 POLR2L Synonymous SNV D33D 0.552 0.568 0.571 211 648 218 0.541 168 181 59 42 64 0.071 7762 chr2 20189015 20189015 T C rs1060742 WDR35 Nonsynonymous SNV Q18R 0.178 0.167 0.099 65 209 64 0.167 29 16 6 0 4 Benign/Likely benign 12.33 7763 chr11 8435077 8435077 C T rs3751095 STK33 Nonsynonymous SNV A250T 0.315 0.32 0.327 101 370 123 0.259 96 58 23 16 14 6.845 7764 chr11 8435078 8435078 A C rs3751096 STK33 Nonsynonymous SNV D249E 0.315 0.32 0.327 101 370 123 0.259 96 58 23 16 14 0.004 7765 chr2 20205680 20205680 C T rs28401180 MATN3 Synonymous SNV E205E 0.483 0.49 0.405 206 567 188 0.528 119 133 47 27 48 Benign 12.03 7766 chr11 57463500 57463500 T C rs1783978 ZDHHC5 Synonymous SNV L332L 0.522 0.474 0.514 179 613 182 0.459 151 157 48 34 38 2.081 7767 chr2 20205848 20205848 G A rs28598872 MATN3 Synonymous SNV A149A 0.482 0.49 0.405 207 566 188 0.531 119 133 47 27 49 Benign 11.12 7768 chr11 8486310 8486310 C A rs1446464 STK33 Synonymous SNV A133A 0.545 0.573 0.548 193 640 220 0.495 161 172 64 43 44 14.69 7769 chr2 20403794 20403794 A T rs10205485 SDC1 Nonsynonymous SNV L136Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.132 7770 chr11 85436352 85436352 G A rs641393 SYTL2 Nonsynonymous SNV T1350M 0.624 0.646 0.636 239 732 248 0.613 187 224 80 57 77 15.29 7771 chr11 85436394 85436394 T C rs556669 SYTL2 Nonsynonymous SNV D1336G 0.658 0.674 0.673 257 772 259 0.659 198 249 88 66 89 23.1 7772 chr2 20403889 20403889 A G rs141073701 SDC1 Synonymous SNV A104A 0.015 0.018 0.017 5 18 7 0.013 5 0 0 0 0 Benign 0.026 7773 chr2 20403949 20403949 C T rs2230924 SDC1 Synonymous SNV E84E 0.229 0.263 0.279 117 269 101 0.3 82 27 15 6 21 10.59 7774 chr11 85436500 85436500 T C rs580459 SYTL2 Nonsynonymous SNV M1301V 0.658 0.674 0.673 257 772 259 0.659 198 249 88 66 89 0.673 7775 chr2 20823724 20823724 T C rs6531248 HS1BP3 Synonymous SNV P284P 1 1 0.929 389 1174 384 0.997 273 587 192 136 194 0.228 7776 chr11 85436699 85436699 A G rs598346 SYTL2 Synonymous SNV P1234P 0.813 0.826 0.823 319 954 317 0.818 242 390 132 100 130 0.003 7777 chr11 85436868 85436868 G C rs597480 SYTL2 Nonsynonymous SNV A1178G 0.624 0.646 0.636 240 732 248 0.615 187 224 80 57 78 21.3 7778 chr2 20824559 20824559 C T rs2305457 HS1BP3 Synonymous SNV E239E 0.331 0.307 0.293 109 389 118 0.279 86 60 14 13 13 8.966 7779 chr11 5862532 5862532 A C rs10742809 OR52E6 Nonsynonymous SNV M199R 0.351 0.315 0.364 139 412 121 0.356 107 76 26 16 29 8.874 7780 chr11 59282861 59282861 A G rs17501584 OR4D9 Nonsynonymous SNV Q159R 0.048 0.021 0.051 15 56 8 0.038 15 2 0 1 0 21 7781 chr2 20838318 20838318 G A rs3796064 HS1BP3 Synonymous SNV F167F 0.349 0.344 0.306 120 410 132 0.308 90 69 21 19 18 12.77 7782 chr11 85437896 85437896 A G rs491867 SYTL2 Synonymous SNV G835G 0.658 0.674 0.673 257 773 259 0.659 198 250 88 66 89 4.642 7783 chr11 85438808 85438808 A G rs12294906 SYTL2 Synonymous SNV Y531Y 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 12.98 7784 chr2 20840823 20840823 G A rs77551133 HS1BP3 Nonsynonymous SNV R106W 0.021 0.016 0.003 8 25 6 0.021 1 0 0 0 0 35 7785 chr11 85447611 85447611 T C rs680498 SYTL2 Synonymous SNV S172S 0.658 0.674 0.673 257 773 259 0.659 198 251 88 66 89 0.146 7786 chr11 5862653 5862653 T C rs4357719 OR52E6 Nonsynonymous SNV I159V 0.37 0.346 0.395 156 434 133 0.4 116 85 32 21 31 0.001 7787 chr11 85456703 85456703 T C rs647912 SYTL2 Synonymous SNV E122E 0.624 0.646 0.619 241 732 248 0.618 182 224 80 57 78 3.69 7788 chr2 20870579 20870579 G A rs13013489 GDF7 Synonymous SNV R249R 0.641 0.672 0.599 242 753 258 0.621 176 241 94 58 79 0.716 7789 chr11 85593595 85593595 C T rs150724013 CCDC83 Nonsynonymous SNV H74Y 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 14.77 7790 chr11 5862731 5862731 A G rs10838719 OR52E6 Nonsynonymous SNV W133R 0.503 0.43 0.503 166 590 165 0.426 148 149 37 31 38 Benign 0.003 7791 chr2 21225281 21225281 C T rs1042034 APOB Nonsynonymous SNV S4338N 0.704 0.742 0.738 279 826 285 0.715 217 287 108 84 102 Benign 0.005 7792 chr11 85692181 85692181 A C rs694353 PICALM Synonymous SNV A540A 0.555 0.583 0.548 204 651 224 0.523 161 180 69 44 50 Benign 8.468 7793 chr11 5862780 5862780 T C rs4362172 OR52E6 Synonymous SNV V116V 0.37 0.346 0.391 156 434 133 0.4 115 85 32 21 31 1.193 7794 chr11 85968623 85968623 C T rs974144 EED Synonymous SNV L207L 0.392 0.383 0.415 154 460 147 0.395 122 90 27 31 32 15.23 7795 chr2 21228827 21228827 C T rs1801701 APOB Nonsynonymous SNV R3638Q 0.049 0.057 0.078 30 57 22 0.077 23 0 1 1 1 Benign/Likely benign 8.448 7796 chr11 5862845 5862845 A G rs4592451 OR52E6 Nonsynonymous SNV S95P 0.37 0.346 0.391 156 434 133 0.4 115 85 32 21 31 22.9 7797 chr11 86098680 86098680 T C rs292109 CCDC81 Synonymous SNV I88I 0.593 0.534 0.575 235 696 205 0.603 169 213 57 47 73 3.545 7798 chr11 5989293 5989293 G A rs7113548 OR56A5 Synonymous SNV V144V 0.32 0.263 0.33 111 376 101 0.285 97 54 16 11 17 0.064 7799 chr11 86123467 86123467 G A rs3741006 CCDC81 Synonymous SNV A329A 0.486 0.51 0.466 199 570 196 0.51 137 146 48 33 51 9.75 7800 chr11 5862937 5862937 C A rs4495918 OR52E6 Nonsynonymous SNV C64F 0.369 0.346 0.391 156 433 133 0.4 115 84 32 21 31 0.755 7801 chr11 5989415 5989415 C T rs7114672 OR56A5 Nonsynonymous SNV V104M 0.446 0.396 0.401 171 524 152 0.438 118 112 36 25 32 12.2 7802 chr2 21232195 21232195 G A rs693 APOB Synonymous SNV T2515T 0.35 0.409 0.415 142 411 157 0.364 122 73 34 29 27 Benign 7.392 7803 chr11 58978940 58978940 C T rs544864 MPEG1 Nonsynonymous SNV A467T 0.226 0.214 0.241 96 265 82 0.246 71 26 4 7 12 8.274 7804 chr11 86123556 86123556 A G rs3741005 CCDC81 Nonsynonymous SNV Y359C 0.052 0.034 0.051 14 61 13 0.036 15 2 0 0 1 24.6 7805 chr2 21232803 21232803 T C rs584542 APOB Nonsynonymous SNV I2313V 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.001 7806 chr11 5862984 5862984 G C rs10769272 OR52E6 Nonsynonymous SNV F48L 0.369 0.346 0.391 156 433 133 0.4 115 84 32 21 31 0.004 7807 chr11 86153911 86153911 G A rs7548 ME3 Synonymous SNV Y535Y 0.405 0.411 0.378 165 475 158 0.423 111 97 28 19 39 8.361 7808 chr11 86161388 86161388 C G rs1042780 ME3 Nonsynonymous SNV K324N 0.425 0.443 0.391 171 499 170 0.438 115 122 38 21 38 21.1 7809 chr2 21232804 21232804 G A rs1041968 APOB Synonymous SNV D2312D 0.35 0.409 0.415 142 411 157 0.364 122 73 34 29 27 0.002 7810 chr11 5863013 5863013 T C rs4362173 OR52E6 Nonsynonymous SNV I39V 0.369 0.346 0.391 156 433 133 0.4 115 84 32 21 31 0.001 7811 chr11 862652 862652 T C rs28505621 TSPAN4 Synonymous SNV L56L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.209 7812 chr2 21235475 21235475 T C rs568413 APOB Nonsynonymous SNV Y1422C 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.043 7813 chr2 1946914 1946914 A G rs3748988 MYT1L Synonymous SNV D115D 0.33 0.323 0.241 124 388 124 0.318 71 62 20 12 24 0.003 7814 chr11 86267633 86267633 C T rs17211115 ME3 Synonymous SNV L143L 0.173 0.167 0.197 61 203 64 0.156 58 14 6 8 4 13.45 7815 chr2 1946968 1946968 C T rs3748989 MYT1L Synonymous SNV E97E 0.088 0.094 0.051 25 103 36 0.064 15 6 2 0 0 4.195 7816 chr11 5863113 5863113 G A rs10742810 OR52E6 Synonymous SNV N5N 0.37 0.346 0.395 156 434 133 0.4 116 85 32 21 31 6.365 7817 chr11 86267714 86267714 C A rs12287767 ME3 Synonymous SNV R116R 0.184 0.167 0.197 61 216 64 0.156 58 14 6 8 4 15.99 7818 chr2 21238413 21238413 C G rs12713844 APOB Nonsynonymous SNV D1113H 0.009 0.013 0.014 8 10 5 0.021 4 0 1 0 0 Conflicting interpretations of pathogenicity 24.1 7819 chr2 3391826 3391826 C T rs11127423 TRAPPC12 Synonymous SNV A144A 0.202 0.161 0.245 67 237 62 0.172 72 28 11 12 9 13.1 7820 chr11 8662516 8662516 T C rs11042023 TRIM66 Nonsynonymous SNV H324R 0.561 0.536 0.588 229 659 206 0.587 173 187 53 50 64 24.9 7821 chr11 587425 587425 C A rs12800061 PHRF1 Synonymous SNV A127A 0.211 0.247 0.248 83 248 95 0.213 73 31 14 5 8 16.23 7822 chr11 5809477 5809477 A G rs10838637 OR52N1 Synonymous SNV S190S 0.378 0.299 0.33 133 444 115 0.341 97 80 19 13 24 0.784 7823 chr11 6007396 6007396 C T rs61732631 OR52L1 Synonymous SNV A255A 0.113 0.107 0.129 40 133 41 0.103 38 11 1 0 2 9.71 7824 chr2 21263900 21263900 G A rs1367117 APOB Nonsynonymous SNV T98I 0.193 0.232 0.265 85 226 89 0.218 78 18 11 12 8 Benign/Likely benign 23 7825 chr2 3392295 3392295 A G rs11686212 TRAPPC12 Nonsynonymous SNV S301G 0.425 0.411 0.483 163 499 158 0.418 142 101 32 41 36 27.3 7826 chr11 87013438 87013438 G A rs2276102 TMEM135 Nonsynonymous SNV G196R 0.638 0.664 0.663 253 749 255 0.649 195 236 82 62 78 11.02 7827 chr2 3469463 3469463 G C rs4971514 TRAPPC12 Synonymous SNV L591L 0.428 0.44 0.452 177 502 169 0.454 133 108 41 35 43 10.25 7828 chr2 21360583 21360583 A G rs312966 TDRD15 Nonsynonymous SNV M82V 0.441 0.445 0.391 164 518 171 0.421 115 113 39 26 37 0.002 7829 chr11 870446 870446 G A rs6682 CHID1 Nonsynonymous SNV A307V 0.549 0.536 0.551 218 644 206 0.559 162 184 59 42 61 20.7 7830 chr11 5809673 5809673 C T rs10769224 OR52N1 Nonsynonymous SNV C125Y 0.378 0.299 0.33 133 444 115 0.341 97 80 19 13 24 0.013 7831 chr2 3483205 3483205 C T rs6767 TRAPPC12 Synonymous SNV F727F 0.4 0.393 0.398 153 470 151 0.392 117 100 30 29 31 11.62 7832 chr2 23862071 23862071 G A rs78687339 KLHL29 Synonymous SNV G116G 0.026 0.039 0.034 7 30 15 0.018 10 0 0 0 0 9.944 7833 chr11 8751889 8751889 C G rs3794153 DENND2B Nonsynonymous SNV K316N 0.297 0.302 0.299 129 349 116 0.331 88 43 17 11 18 23.7 7834 chr11 5809746 5809746 C T rs10742787 OR52N1 Nonsynonymous SNV A101T 0.379 0.299 0.33 133 445 115 0.341 97 80 19 13 24 0.07 7835 chr2 23865260 23865260 T C rs642931 KLHL29 Synonymous SNV I160I 0.744 0.773 0.711 321 874 297 0.823 209 321 115 75 131 4.33 7836 chr2 3504615 3504615 C A rs149600945 ADI1 Synonymous SNV G124G 0.002 0.01 0.003 3 2 4 0.008 1 0 0 0 0 12.37 7837 chr11 56510871 56510871 T C rs983749715 OR9G4 Synonymous SNV A139A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.004 7838 chr11 87908448 87908448 A G rs302646 RAB38 Synonymous SNV S35S 0.881 0.888 0.895 338 1034 341 0.867 263 456 151 117 148 10.92 7839 chr2 23919375 23919375 C T rs3795942 KLHL29 Synonymous SNV H699H 0.59 0.612 0.551 231 693 235 0.592 162 204 73 45 69 15.9 7840 chr2 3504687 3504687 A G rs9950 ADI1 Synonymous SNV D100D 0.338 0.326 0.364 146 397 125 0.374 107 77 23 21 28 0.021 7841 chr11 56511160 56511160 A G rs11228763 OR9G4 Nonsynonymous SNV F43S 0.044 0.039 0.051 16 52 15 0.041 15 0 0 0 0 23.2 7842 chr11 5809807 5809807 A - rs142442713 OR52N1 N82Tfs*74 0.065 0.044 0.031 29 76 17 0.074 9 6 0 0 1 7843 chr11 6007772 6007772 G A rs61750896 OR52L1 Nonsynonymous SNV S130L 0.117 0.112 0.126 42 137 43 0.108 37 12 1 0 2 27.5 7844 chr2 3518643 3518643 T C rs7566663 ADI1 Nonsynonymous SNV H13R 0.18 0.188 0.146 80 211 72 0.205 43 20 10 7 9 1.221 7845 chr11 88029365 88029365 G A rs2230081 CTSC Synonymous SNV T275T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 12.34 7846 chr2 23926659 23926659 T C rs3795948 KLHL29 Synonymous SNV A790A 0.544 0.536 0.507 204 639 206 0.523 149 178 55 34 55 9.645 7847 chr11 5664684 5664684 T G rs16933844 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV N404K 0.028 0.013 0.034 14 33 5 0.036 10 1 0 0 0 12.05 7848 chr2 24108652 24108652 T C rs7579201 ATAD2B Nonsynonymous SNV Q207R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.892 7849 chr11 88045583 88045583 A G rs217086 CTSC Nonsynonymous SNV I153T 0.875 0.857 0.782 341 1027 329 0.874 230 456 142 91 151 Benign 0.003 7850 chr2 3691548 3691548 A G rs7567833 COLEC11 Nonsynonymous SNV H145R 0.039 0.057 0.099 13 46 22 0.033 29 1 1 1 1 0.05 7851 chr11 56756516 56756516 G C rs12420424 OR5AK2 Nonsynonymous SNV S43T 0.072 0.055 0.058 25 84 21 0.064 17 0 0 1 1 0.145 7852 chr11 88242024 88242024 T G rs2941563 GRM5 Synonymous SNV G1093G 0.917 0.906 0.912 349 1077 348 0.895 268 496 158 123 158 10.19 7853 chr2 24342505 24342505 T C rs1056122 PFN4 Synonymous SNV V101V 0.358 0.336 0.303 135 420 129 0.346 89 70 21 13 21 7.611 7854 chr11 88300726 88300726 C T rs117017974 GRM5 Nonsynonymous SNV V709I 0 0 0.007 0 0 0 0 2 0 0 0 0 8.735 7855 chr11 5906205 5906205 G A rs4757987 OR52E4 Nonsynonymous SNV R228H 0.38 0.357 0.412 153 446 137 0.392 121 94 31 24 30 9.118 7856 chr2 24342532 24342532 G A rs1134516 PFN4 Synonymous SNV V92V 0.146 0.146 0.122 55 171 56 0.141 36 7 2 4 4 6.887 7857 chr2 3751606 3751606 C T rs56104311 DCDC2C Nonsynonymous SNV R89C 0.049 0.063 0.068 25 57 24 0.064 20 2 1 1 0 31 7858 chr2 24426534 24426534 A G rs61754183 ITSN2 Synonymous SNV R1645R 0.043 0.076 0.041 18 50 29 0.046 12 0 0 0 0 6.668 7859 chr11 89224101 89224101 G T rs3816123 NOX4 Nonsynonymous SNV R14S 0.637 0.638 0.656 251 748 245 0.644 193 231 81 69 84 8.305 7860 chr2 24905927 24905927 G C rs11125744 NCOA1 Synonymous SNV T154T 0.886 0.891 0.918 351 1040 342 0.9 270 464 153 126 157 11.31 7861 chr2 6990020 6990020 C T rs10495545 CMPK2 Synonymous SNV T437T 0.103 0.109 0.102 59 121 42 0.151 30 5 1 2 5 13.96 7862 chr11 89224131 89224131 - CTC rs34495256 NOX4 E3_M4insE 0.635 0.638 0.656 251 745 245 0.644 193 231 81 69 84 7863 chr11 5730294 5730294 C T rs61735276 TRIM22 Synonymous SNV L301L 0.053 0.039 0.041 24 62 15 0.062 12 0 0 0 0 12.37 7864 chr11 5841701 5841701 G A rs73394370 OR52N2 Nonsynonymous SNV G46R 0.065 0.044 0.034 29 76 17 0.074 10 6 0 0 1 22.7 7865 chr2 24974945 24974945 T G rs11125763 NCOA1 Synonymous SNV L1267L 0.89 0.893 0.922 352 1045 343 0.903 271 468 154 127 158 10.06 7866 chr11 8942999 8942999 G A rs2568023 C11orf16 Nonsynonymous SNV A423V 0.997 0.99 0.993 389 1171 380 0.997 292 584 188 145 194 0.016 7867 chr2 25046090 25046090 T C rs1127568 ADCY3 Synonymous SNV S958S 0.652 0.635 0.707 274 765 244 0.703 208 257 77 72 94 8.013 7868 chr11 5841778 5841778 T A rs73394374 OR52N2 Synonymous SNV T71T 0.065 0.044 0.034 30 76 17 0.077 10 6 0 0 1 6.581 7869 chr11 59611362 59611362 G A rs35792306 CBLIF Synonymous SNV S82S 0.054 0.081 0.075 16 63 31 0.041 22 1 2 1 1 Likely benign 9.621 7870 chr11 8947021 8947021 A G rs2653588 C11orf16 Nonsynonymous SNV L398P 0.999 0.995 0.993 389 1173 382 0.997 292 586 190 145 194 0.086 7871 chr2 25050977 25050977 T C rs7566416 ADCY3 Synonymous SNV E742E 0.652 0.633 0.707 273 766 243 0.7 208 258 76 72 93 0.081 7872 chr11 57069375 57069375 A G rs34069781 TNKS1BP1 Nonsynonymous SNV V1626A 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 4.553 7873 chr2 25064193 25064193 G A rs2241759 ADCY3 Synonymous SNV P377P 0.465 0.456 0.49 190 546 175 0.487 144 137 45 33 53 13.12 7874 chr2 8871342 8871342 C A rs1044280 KIDINS220 Nonsynonymous SNV Q1552H 0.253 0.25 0.296 124 297 96 0.318 87 33 8 11 17 15.21 7875 chr11 8947283 8947283 G C rs3751066 C11orf16 Nonsynonymous SNV P311A 0.505 0.51 0.565 208 593 196 0.533 166 148 51 46 53 12.63 7876 chr11 60198328 60198328 C T rs708229 MS4A5 Synonymous SNV T71T 0.42 0.445 0.401 185 493 171 0.474 118 108 38 24 38 5.953 7877 chr2 25194741 25194741 G A rs7593864 DNAJC27 Synonymous SNV P11P 0.816 0.807 0.83 330 958 310 0.846 244 397 126 103 140 10.99 7878 chr11 5841926 5841926 G A rs73394377 OR52N2 Nonsynonymous SNV A121T 0.065 0.044 0.034 29 76 17 0.074 10 6 0 0 1 24.4 7879 chr11 57069568 57069568 T C rs35272228 TNKS1BP1 Nonsynonymous SNV H1605R 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 0.446 7880 chr11 5969185 5969185 A G rs10769378 OR56A3 Synonymous SNV Q203Q 0.204 0.208 0.194 66 240 80 0.169 57 18 4 4 7 0.003 7881 chr2 25377176 25377176 T C rs2164808 EFR3B Synonymous SNV Y772Y 0.558 0.57 0.602 204 655 219 0.523 177 186 61 51 57 0.913 7882 chr11 8947586 8947586 C G rs11042127 C11orf16 Nonsynonymous SNV V210L 0.226 0.232 0.265 79 265 89 0.203 78 26 12 8 6 11.74 7883 chr11 57070089 57070089 C T rs34498883 TNKS1BP1 Synonymous SNV P1509P 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 15.85 7884 chr11 5922366 5922366 G A rs16926729 OR52E5 Synonymous SNV T124T 0.038 0.044 0.034 15 45 17 0.038 10 1 0 0 1 17.78 7885 chr11 5842081 5842081 G A rs73394378 OR52N2 Synonymous SNV R172R 0.065 0.044 0.034 29 76 17 0.074 10 6 0 0 1 0.576 7886 chr2 25384360 25384360 G C rs8192606 POMC Nonsynonymous SNV P132A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 1.906 7887 chr2 9528536 9528536 G C rs2715860 ASAP2 Nonsynonymous SNV E748D 0.315 0.331 0.31 133 370 127 0.341 91 53 19 9 24 13.51 7888 chr11 5989415 5989415 C A rs7114672 OR56A5 Nonsynonymous SNV V104L 0.121 0.133 0.078 33 142 51 0.085 23 6 1 1 1 12.45 7889 chr11 57070170 57070170 C T rs34905018 TNKS1BP1 Synonymous SNV L1482L 0.005 0.008 0.014 0 6 3 0 4 0 0 0 0 10.74 7890 chr11 8948680 8948680 A T rs3751065 C11orf16 Synonymous SNV P122P 0.505 0.51 0.565 207 593 196 0.531 166 148 51 46 52 0.01 7891 chr11 8959511 8959511 T G rs4910179 ASCL3 Synonymous SNV G66G 0.59 0.581 0.626 227 693 223 0.582 184 198 65 54 62 0.008 7892 chr11 57076895 57076895 T C rs35950335 TNKS1BP1 Nonsynonymous SNV Q1097R 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 0.036 7893 chr2 25469502 25469502 C T rs2276598 DNMT3A Synonymous SNV L270L 0.167 0.151 0.133 77 196 58 0.197 39 13 3 2 8 11.64 7894 chr11 8959545 8959545 C A rs4909951 ASCL3 Nonsynonymous SNV R55L 0.532 0.539 0.592 214 625 207 0.549 174 167 55 50 54 13.41 7895 chr11 5842329 5842329 T G rs74377989 OR52N2 Nonsynonymous SNV V255G 0.065 0.044 0.034 29 76 17 0.074 10 6 0 0 1 16.02 7896 chr2 25655772 25655772 T C rs7583475 DTNB Synonymous SNV A276A 0.344 0.354 0.286 121 404 136 0.31 84 70 25 12 18 8.821 7897 chr11 60291413 60291413 C T rs6591595 MS4A13 Nonsynonymous SNV P58L 0.806 0.784 0.697 309 946 301 0.792 205 392 124 80 119 23.7 7898 chr11 8977830 8977830 A G rs2568068 TMEM9B Synonymous SNV V71V 0.244 0.263 0.303 84 286 101 0.215 89 27 15 13 6 7.728 7899 chr2 26203678 26203678 T C rs1465878 KIF3C Nonsynonymous SNV Q370R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.871 7900 chr11 89868755 89868755 G A rs10734123 NAALAD2 Synonymous SNV T37T 0.291 0.258 0.313 131 342 99 0.336 92 44 11 16 26 12.4 7901 chr11 60070176 60070176 A G rs6591561 MS4A4A Nonsynonymous SNV M178V 0.378 0.286 0.333 153 444 110 0.392 98 83 9 17 36 0.001 7902 chr11 57080352 57080352 G A rs12801000 TNKS1BP1 Nonsynonymous SNV P604S 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 18.51 7903 chr11 89902154 89902154 A G rs10830430 NAALAD2 Nonsynonymous SNV I413V 0.075 0.086 0.109 34 88 33 0.087 32 3 3 2 0 8.749 7904 chr11 6048056 6048056 T C rs11040335 OR56A1 Synonymous SNV A293A 0.365 0.336 0.364 133 428 129 0.341 107 69 20 17 25 2.811 7905 chr11 5776484 5776484 A T rs4910844 OR52N4 Stop gain R172X 0.31 0.253 0.296 104 364 97 0.267 87 50 15 10 14 35 7906 chr2 26204640 26204640 G A rs6721440 KIF3C Synonymous SNV A49A 0.457 0.479 0.5 217 536 184 0.556 147 124 43 42 66 3.275 7907 chr11 5842384 5842384 C G rs62621415 OR52N2 Nonsynonymous SNV N273K 0.065 0.044 0.034 29 76 17 0.074 10 6 0 0 1 0.022 7908 chr11 57080914 57080914 T C rs35721601 TNKS1BP1 Synonymous SNV A416A 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 0.118 7909 chr11 903070 903070 G C rs28380110 CHID1 Synonymous SNV V51V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.08 7910 chr2 26399214 26399214 G A rs4665830 GAREM2 Synonymous SNV G38G 0.653 0.69 0.684 250 767 265 0.641 201 257 88 74 80 13.44 7911 chr11 57080917 57080917 G A rs34177110 TNKS1BP1 Synonymous SNV D415D 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 2.751 7912 chr11 9052423 9052423 A C rs7395988 SCUBE2 Nonsynonymous SNV H586Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.52 7913 chr11 56185632 56185632 G A rs140621320 OR5R1 Nonsynonymous SNV P26L 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 10.74 7914 chr2 26408064 26408064 T C rs4665833 GAREM2 Synonymous SNV D372D 0.711 0.638 0.646 274 835 245 0.703 190 413 121 93 136 0.059 7915 chr11 57081048 57081048 G C rs79638626 TNKS1BP1 Nonsynonymous SNV P372A 0.024 0.016 0.027 2 28 6 0.005 8 0 0 0 0 0.001 7916 chr11 59631535 59631535 C T rs34528912 TCN1 Nonsynonymous SNV R35H 0.055 0.081 0.034 37 65 31 0.095 10 1 1 0 2 Benign 0.047 7917 chr11 9069046 9069046 G A rs3751055 SCUBE2 Nonsynonymous SNV T465M 0.147 0.104 0.119 39 173 40 0.1 35 11 5 1 0 23.9 7918 chr2 26410214 26410214 C T rs1019972 GAREM2 Synonymous SNV P571P 0.079 0.083 0.051 31 93 32 0.079 15 4 0 1 0 1.801 7919 chr11 57799183 57799183 C T rs7123727 OR6Q1 Synonymous SNV S253S 0.314 0.284 0.286 88 369 109 0.226 84 57 20 14 5 11.21 7920 chr2 26534801 26534801 G A rs7568529 ADGRF3 Nonsynonymous SNV H400Y 0.732 0.742 0.728 249 859 285 0.638 214 307 106 78 80 20.7 7921 chr11 9113009 9113011 GCA - rs142900716 SCUBE2 L22del 0.454 0.474 0.173 189 533 182 0.485 51 149 50 14 50 7922 chr2 10262859 10262859 G A rs72542787 RRM2 Synonymous SNV G38G 0.097 0.096 0.095 41 114 37 0.105 28 6 2 0 0 7.459 7923 chr11 5878836 5878836 T A rs111407817 OR52E8 Nonsynonymous SNV I33F 0.057 0.049 0.034 27 67 19 0.069 10 6 1 0 1 18.08 7924 chr11 9116442 9116442 G A rs16914802 KRT8P41 0 0 0.078 0 0 0 0 23 0 0 1 0 0.762 7925 chr11 9225486 9225486 C G rs952374 DENND5A Nonsynonymous SNV E200Q 0.319 0.294 0.33 117 374 113 0.3 97 52 20 14 14 11.17 7926 chr2 26536694 26536694 C T rs2052937 ADGRF3 Nonsynonymous SNV A205T 0.708 0.727 0.697 246 831 279 0.631 205 289 103 76 76 4.035 7927 chr11 92531356 92531356 A G rs7949157 FAT3 Nonsynonymous SNV Q1726R 0.878 0.859 0.857 332 1031 330 0.851 252 452 141 107 139 0.685 7928 chr2 10717806 10717806 C T rs2287059 NOL10 Nonsynonymous SNV D609N 0.351 0.32 0.282 126 412 123 0.323 83 67 15 13 24 22.8 7929 chr2 26647277 26647277 T G rs7423300 DRC1 Synonymous SNV A165A 0.87 0.878 0.915 331 1021 337 0.849 269 440 148 123 143 Benign 6.39 7930 chr11 5989282 5989282 G A rs116908319 OR56A5 Nonsynonymous SNV A148V 0.031 0.049 0.024 20 36 19 0.051 7 0 0 0 0 0.447 7931 chr11 92532677 92532677 T C rs12362722 FAT3 Synonymous SNV P2166P 0.876 0.859 0.861 333 1029 330 0.854 253 450 141 108 139 0.01 7932 chr11 6007899 6007899 C T rs4501959 OR52L1 Nonsynonymous SNV D88N 0.112 0.13 0.116 30 132 50 0.077 34 6 1 1 1 28.8 7933 chr2 26667615 26667615 T C rs939820 DRC1 Nonsynonymous SNV W399R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.825 7934 chr11 92534442 92534442 A G rs3847531 FAT3 Nonsynonymous SNV I2755V 0.887 0.862 0.881 334 1041 331 0.856 259 461 141 113 141 0.054 7935 chr11 92568149 92568149 A G rs75651194 FAT3 Nonsynonymous SNV I3329V 0.009 0.018 0.027 1 11 7 0.003 8 0 1 1 0 1.958 7936 chr2 26676322 26676322 A G rs1402962 DRC1 Synonymous SNV E608E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.197 7937 chr11 60160215 60160215 A G rs749507472 MS4A7 Nonsynonymous SNV S157G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.056 7938 chr2 26684701 26684701 T A rs753431860 OTOF Nonsynonymous SNV Y1109F 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 7939 chr11 92590448 92590448 A G rs4753069 FAT3 Nonsynonymous SNV S3812G 0.893 0.865 0.854 349 1048 332 0.895 251 468 142 106 155 10.75 7940 chr11 60776186 60776186 C T rs11230562 CD6 Nonsynonymous SNV T217M 0.298 0.326 0.303 118 350 125 0.303 89 63 22 15 13 24.4 7941 chr2 26741961 26741961 G A rs13031859 OTOF Nonsynonymous SNV R82C 0.57 0.542 0.568 230 669 208 0.59 167 196 55 40 69 Benign 22.5 7942 chr11 56310730 56310730 A C rs184106423 OR5M11 Nonsynonymous SNV S2A 0.012 0.013 0.02 6 14 5 0.015 6 0 0 0 0 0.001 7943 chr11 60068520 60068520 C T rs759323164 MS4A4A Nonsynonymous SNV T126I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.8 7944 chr11 92600266 92600266 G A rs75649640 FAT3 Synonymous SNV A4006A 0.127 0.128 0.092 63 149 49 0.162 27 7 2 1 6 15.24 7945 chr11 60776209 60776209 C T rs11230563 CD6 Nonsynonymous SNV R225W 0.36 0.344 0.344 123 423 132 0.315 101 73 20 16 17 23.8 7946 chr11 93129483 93129483 G C rs12288277 DEUP1 Nonsynonymous SNV E440Q 0.332 0.357 0.367 133 390 137 0.341 108 72 19 16 27 6.735 7947 chr11 5809655 5809655 G C rs199876263 OR52N1 Nonsynonymous SNV P131R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 24.6 7948 chr2 26798893 26798893 A T rs13002673 FAM166C Nonsynonymous SNV Q66H 0.271 0.258 0.259 94 318 99 0.241 76 42 14 9 12 5.84 7949 chr11 60776306 60776306 C T rs2074225 CD6 Nonsynonymous SNV A257V 0.674 0.682 0.68 246 791 262 0.631 200 274 89 67 71 9.319 7950 chr11 93129484 93129484 A G rs12282288 DEUP1 Nonsynonymous SNV E440G 0.333 0.357 0.367 133 391 137 0.341 108 72 19 16 27 0.048 7951 chr2 26799031 26799031 G A rs2272464 FAM166C Nonsynonymous SNV E100K 0.276 0.263 0.259 95 324 101 0.244 76 42 14 9 12 5.135 7952 chr11 93141580 93141580 C A rs2259633 DEUP1 Nonsynonymous SNV Q504K 0.78 0.789 0.779 301 916 303 0.772 229 394 132 91 122 13.66 7953 chr11 60785464 60785464 G A rs2074233 CD6 Nonsynonymous SNV G574S 0.308 0.32 0.289 120 362 123 0.308 85 65 21 15 14 24 7954 chr2 26804247 26804247 T C rs935172 CIB4 Nonsynonymous SNV H181R 0.405 0.422 0.459 168 476 162 0.431 135 106 34 34 30 6.547 7955 chr11 60197299 60197299 G A rs34169848 MS4A5 Nonsynonymous SNV G51E 0.068 0.083 0.031 26 80 32 0.067 9 1 2 1 1 25 7956 chr11 93212254 93212254 C T rs2658797 SMCO4 Synonymous SNV V34V 0.56 0.547 0.585 216 657 210 0.554 172 179 55 52 58 15.41 7957 chr11 93408831 93408831 G A rs10831088 CEP295 Nonsynonymous SNV R208Q 0.971 0.979 0.973 382 1140 376 0.979 286 554 184 140 187 19.89 7958 chr11 608593 608593 G A rs149443419 PHRF1 Nonsynonymous SNV R1046Q 0.049 0.06 0.031 24 57 23 0.062 9 2 1 0 1 23 7959 chr2 27169842 27169842 C A rs11126784 DPYSL5 Synonymous SNV G558G 0.586 0.63 0.524 238 688 242 0.61 154 200 75 43 73 14.73 7960 chr11 6023581 6023581 A G rs11040248 OR56A4 Synonymous SNV L214L 0.322 0.307 0.357 124 378 118 0.318 105 62 16 16 20 0.012 7961 chr11 93425159 93425159 C A rs4753495 CEP295 Nonsynonymous SNV A499E 0.966 0.979 0.973 381 1134 376 0.977 286 554 184 140 187 9.152 7962 chr2 27246285 27246285 C T rs10865456 MAPRE3 Synonymous SNV H69H 0.915 0.943 0.912 360 1074 362 0.923 268 494 171 121 167 9.067 7963 chr11 6023640 6023640 T C rs11040249 OR56A4 Nonsynonymous SNV I195V 0.33 0.315 0.357 124 387 121 0.318 105 68 17 16 20 9.481 7964 chr2 27303755 27303755 A G rs2736976 EMILIN1 Nonsynonymous SNV Q149R 0.999 0.997 0.986 389 1173 383 0.997 290 586 191 143 194 0.003 7965 chr11 93462607 93462607 A T rs7131178 CEP295 Nonsynonymous SNV E2437V 0.825 0.836 0.83 340 969 321 0.872 244 402 130 104 148 2.515 7966 chr11 57076820 57076820 T G rs78489201 TNKS1BP1 Nonsynonymous SNV Y1122S 0.106 0.115 0.088 51 124 44 0.131 26 3 1 1 4 8.553 7967 chr11 6023818 6023818 G A rs10839221 OR56A4 Synonymous SNV Y135Y 0.319 0.307 0.354 123 375 118 0.315 104 62 16 16 20 0.202 7968 chr11 58126340 58126340 C T rs140465731 OR5B17 Nonsynonymous SNV G68D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 7969 chr11 93464175 93464175 A C rs1944108 SNORA32 0 0 0.35 0 0 0 0 103 0 0 15 0 8.467 7970 chr2 27324724 27324724 G C rs2384571 CGREF1 Synonymous SNV T125T 0.586 0.63 0.548 241 688 242 0.618 161 202 75 48 74 9.02 7971 chr2 11727507 11727507 G A rs13394619 GREB1 0.624 0.648 0.541 217 732 249 0.556 159 230 80 46 59 1.229 7972 chr11 93466866 93466866 G T rs2155248 MIR1304 0 0 0.932 0 0 0 0 274 0 0 135 0 5.366 7973 chr2 27324751 27324751 G T rs2384572 CGREF1 Synonymous SNV I116I 0.586 0.633 0.548 241 688 243 0.618 161 202 75 48 74 12.55 7974 chr11 93517874 93517874 C G rs7116967 MED17 Synonymous SNV G65G 0.625 0.643 0.65 243 734 247 0.623 191 235 75 67 80 Benign 12.53 7975 chr11 93517886 93517886 G C rs2848477 MED17 Nonsynonymous SNV E69D 0.625 0.638 0.643 243 734 245 0.623 189 235 75 67 80 Benign 7.396 7976 chr2 27351948 27351948 T G rs6715286 ABHD1 Nonsynonymous SNV D137E 1 1 0.99 388 1174 384 0.995 291 587 192 144 193 2.537 7977 chr11 5776093 5776093 G A rs185750636 OR52N4 Nonsynonymous SNV M41I 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 7.157 7978 chr11 57087817 57087817 C T rs143756483 TNKS1BP1 Nonsynonymous SNV R155H 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 33 7979 chr11 93797619 93797619 A G rs1945783 HEPHL1 Nonsynonymous SNV N251D 0.997 0.997 0.997 389 1170 383 0.997 293 583 191 146 194 0.006 7980 chr2 27428295 27428295 A G rs1275524 SLC5A6 Synonymous SNV I219I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.024 7981 chr2 27435250 27435250 A G rs1275533 ATRAID Nonsynonymous SNV D5G 0.971 0.984 0.983 379 1140 378 0.972 289 557 186 142 185 0.499 7982 chr11 93862493 93862493 A C rs1138800 PANX1 Nonsynonymous SNV Q5H 0.688 0.667 0.626 264 808 256 0.677 184 279 90 63 84 7.967 7983 chr2 27440785 27440785 C T rs1275536 CAD Synonymous SNV T41T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.17 7984 chr11 9406349 9406349 T C rs4606477 IPO7 Synonymous SNV T13T 1 1 0.895 389 1174 384 0.997 263 587 192 131 194 10.41 7985 chr11 5922500 5922500 T C rs17234326 OR52E5 Nonsynonymous SNV I169T 0.2 0.169 0.18 74 235 65 0.19 53 20 6 2 10 14.83 7986 chr2 27460968 27460968 A G rs1141313 CAD Synonymous SNV A1528A 0.297 0.318 0.276 123 349 122 0.315 81 54 20 10 18 5.014 7987 chr11 94113466 94113466 G T rs3740868 GPR83 Nonsynonymous SNV P332Q 0.084 0.089 0.102 39 99 34 0.1 30 5 3 1 0 0.005 7988 chr11 57146225 57146225 A G rs34108746 PRG3 Nonsynonymous SNV Y146H 0.104 0.086 0.085 48 122 33 0.123 25 4 0 1 3 0.003 7989 chr11 60609972 60609972 A G rs2074422 CCDC86 Synonymous SNV P125P 0.267 0.276 0.248 108 313 106 0.277 73 42 16 7 13 0.292 7990 chr11 61048606 61048606 A G rs377746619 VWCE Nonsynonymous SNV S297P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.86 7991 chr2 27462076 27462076 C T rs3739092 CAD Synonymous SNV P1680P 0.21 0.234 0.197 100 247 90 0.256 58 21 13 2 14 14.54 7992 chr2 11853913 11853913 G A rs4614906 LPIN1 Nonsynonymous SNV R38Q 0.223 0.203 0.248 92 262 78 0.236 73 44 8 8 7 Benign 23.2 7993 chr11 94245740 94245740 A G rs2509324 C11orf97 Nonsynonymous SNV K16E 0.539 0.523 0.405 210 633 201 0.538 119 174 62 39 62 9.076 7994 chr11 94261255 94261255 C G rs647484 C11orf97 Nonsynonymous SNV L86V 0.621 0.622 0.626 239 729 239 0.613 184 226 74 54 80 14.01 7995 chr11 94261280 94261280 G A rs11605546 C11orf97 Nonsynonymous SNV R94K 0.1 0.094 0.109 41 117 36 0.105 32 4 3 1 1 16.3 7996 chr2 11905843 11905843 G A rs140179571 LPIN1 Nonsynonymous SNV R59H 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 34 7997 chr11 59245669 59245669 A G rs374135249 OR4D10 Nonsynonymous SNV Y256C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.6 7998 chr2 27801403 27801403 C G rs1919125 C2orf16 Nonsynonymous SNV T655S 0.649 0.586 0.633 242 762 225 0.621 186 242 69 58 69 0.003 7999 chr11 94278713 94278713 C T rs2230274 FUT4 Synonymous SNV L472L 0.083 0.068 0.126 36 98 26 0.092 37 7 0 2 2 6.42 8000 chr11 94320237 94320237 T C rs7110167 PIWIL4 Synonymous SNV F246F 0.373 0.341 0.435 143 438 131 0.367 128 76 26 27 24 4.972 8001 chr2 27801418 27801418 C A rs1919126 C2orf16 Nonsynonymous SNV A660E 0.649 0.586 0.633 242 762 225 0.621 186 242 69 58 69 10.28 8002 chr2 11911761 11911761 C T rs11538448 LPIN1 Synonymous SNV I184I 0.162 0.146 0.133 58 190 56 0.149 39 16 4 2 5 Benign 15.12 8003 chr11 94322352 94322352 A T rs11020845 PIWIL4 Nonsynonymous SNV Q327L 0.202 0.203 0.269 76 237 78 0.195 79 21 6 11 7 14.18 8004 chr2 27801493 27801493 T C rs1919127 C2orf16 Nonsynonymous SNV V685A 0.401 0.362 0.412 161 471 139 0.413 121 85 27 23 31 8.324 8005 chr11 94322353 94322353 G A rs11020846 PIWIL4 Synonymous SNV Q327Q 0.202 0.203 0.269 76 237 78 0.195 79 21 6 11 7 11.46 8006 chr11 59564830 59564830 G A rs140709330 STX3 Synonymous SNV G287G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.17 8007 chr11 94326765 94326765 G C rs57607909 PIWIL4 Nonsynonymous SNV A370P 0.167 0.167 0.201 61 196 64 0.156 59 16 6 9 6 0.087 8008 chr2 27801759 27801759 A G rs1919128 C2orf16 Nonsynonymous SNV I774V 0.4 0.362 0.412 161 470 139 0.413 121 85 27 23 31 21.7 8009 chr11 60638461 60638461 C T rs10897122 ZP1 Synonymous SNV F286F 0.133 0.138 0.143 55 156 53 0.141 42 10 2 3 6 13.18 8010 chr11 94335077 94335077 C T rs624184 PIWIL4 Synonymous SNV A499A 0.124 0.12 0.136 50 146 46 0.128 40 12 2 2 4 11.56 8011 chr11 94337220 94337220 C T rs593690 PIWIL4 Synonymous SNV L546L 0.372 0.359 0.418 142 437 138 0.364 123 81 26 28 26 3.452 8012 chr2 27802805 27802805 A G rs3811644 C2orf16 Synonymous SNV L1122L 0.226 0.224 0.201 71 265 86 0.182 59 28 10 2 9 5.832 8013 chr11 60638753 60638753 C A rs117566381 ZP1 Nonsynonymous SNV P360T 0.033 0.021 0.014 16 39 8 0.041 4 0 0 0 0 23 8014 chr11 9450377 9450377 T G rs2290423 SNORA23 0 0 0.592 0 0 0 0 174 0 0 49 0 14.05 8015 chr2 27804432 27804432 T C rs28381983 C2orf16 Nonsynonymous SNV S1665P 0.658 0.599 0.646 242 772 230 0.621 190 247 73 62 69 0.067 8016 chr11 60610065 60610065 G A rs2074420 CCDC86 Synonymous SNV P156P 0.113 0.107 0.102 38 133 41 0.097 30 7 0 3 3 8.358 8017 chr11 94533373 94533373 C T rs2303960 AMOTL1 Synonymous SNV P289P 0.242 0.279 0.282 108 284 107 0.277 83 33 20 8 14 9.385 8018 chr11 94533444 94533444 G A rs138059525 AMOTL1 Nonsynonymous SNV R313Q 0.005 0.003 0.014 0 6 1 0 4 0 0 0 0 25.7 8019 chr11 5989223 5989223 G A rs61730422 OR56A5 Stop gain R168X 0.06 0.06 0.058 26 70 23 0.067 17 1 0 0 2 0.466 8020 chr11 6129152 6129152 T C rs4758387 OR56B4 Synonymous SNV N48N 0.043 0.044 0.085 15 50 17 0.038 25 0 0 4 0 0.216 8021 chr2 27838058 27838058 C A rs11127071 ZNF512 Synonymous SNV L356L 0.649 0.589 0.629 243 762 226 0.623 185 242 70 58 70 12.41 8022 chr11 94731759 94731759 G A rs3740853 KDM4D Nonsynonymous SNV R408Q 0.207 0.211 0.224 76 243 81 0.195 66 27 5 7 10 4.3 8023 chr11 61291922 61291922 A G rs10897167 SYT7 Synonymous SNV I331I 0.049 0.047 0.054 21 58 18 0.054 16 3 1 0 0 8.096 8024 chr2 28761981 28761981 G C rs6753929 PLB1 Nonsynonymous SNV V223L 0.29 0.255 0.289 100 340 98 0.256 85 49 16 12 15 26.1 8025 chr11 94731822 94731822 C G rs151327191 KDM4D Nonsynonymous SNV P429R 0.005 0.005 0.014 0 6 2 0 4 0 0 0 0 14.49 8026 chr2 28814033 28814033 A G rs11681826 PLB1 Nonsynonymous SNV M697V 0.239 0.245 0.224 105 280 94 0.269 66 33 12 9 10 0.177 8027 chr11 61313525 61313525 C T rs77128898 SYT7 Nonsynonymous SNV A140T 0.035 0.036 0.024 12 41 14 0.031 7 0 0 0 1 24.1 8028 chr11 9537904 9537904 G C rs10743108 ZNF143 Nonsynonymous SNV E530Q 0.979 0.979 0.963 384 1149 376 0.985 283 562 184 136 189 13.99 8029 chr2 17927177 17927177 T C SMC6 Nonsynonymous SNV K13E 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 5.594 8030 chr2 29001691 29001691 A G rs1128416 PPP1CB Synonymous SNV Q67Q 0.664 0.688 0.653 251 780 264 0.644 192 253 91 62 84 Benign 3.572 8031 chr11 9549142 9549142 G A rs11607631 ZNF143 Synonymous SNV T602T 0.029 0.036 0.037 20 34 14 0.051 11 0 0 0 1 9.265 8032 chr11 60701987 60701987 G A rs7715 TMEM132A Synonymous SNV S530S 0.45 0.422 0.35 175 528 162 0.449 103 138 40 23 40 10.33 8033 chr2 29135468 29135468 C G rs6715296 WDR43 Synonymous SNV G166G 0.713 0.716 0.694 281 837 275 0.721 204 308 97 73 96 13.89 8034 chr11 95512060 95512060 A G rs1150360 FAM76B Synonymous SNV L251L 0.552 0.594 0.585 221 648 228 0.567 172 169 66 50 62 5.251 8035 chr11 61487690 61487690 G A rs198430 DAGLA Synonymous SNV P21P 0.258 0.247 0.207 97 303 95 0.249 61 38 12 6 13 13.65 8036 chr11 95569326 95569326 G T rs61735577 MTMR2 Synonymous SNV R586R 0.033 0.047 0.031 18 39 18 0.046 9 1 0 0 0 Benign 14.03 8037 chr2 29152456 29152456 A G rs1140697 WDR43 Synonymous SNV E439E 0.688 0.708 0.707 263 808 272 0.674 208 284 99 75 94 10.63 8038 chr11 60703777 60703777 G A rs55920775 TMEM132A Nonsynonymous SNV E825K 0.135 0.141 0.139 58 158 54 0.149 41 10 2 3 6 0.003 8039 chr11 61505168 61505168 G A rs198444 DAGLA Synonymous SNV A508A 0.455 0.453 0.412 196 534 174 0.503 121 123 36 27 54 13.95 8040 chr11 95571347 95571347 C G rs61735578 MTMR2 Nonsynonymous SNV E502Q 0.034 0.047 0.031 19 40 18 0.049 9 1 0 0 0 Benign 20.4 8041 chr2 29222070 29222070 G A rs13009279 TOGARAM2 Nonsynonymous SNV A55T 0.267 0.284 0.289 115 313 109 0.295 85 43 15 13 18 0.013 8042 chr11 61539020 61539020 C G rs149803 MYRF Synonymous SNV P263P 0.29 0.297 0.31 93 341 114 0.238 91 47 19 14 9 11.39 8043 chr11 60107398 60107398 T C rs140757869 MS4A6E Synonymous SNV T138T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.314 8044 chr11 95825375 95825383 TGCTGCTGC - rs141671766 MAML2 Q619_Q621del 0.899 0.901 0.755 344 1056 346 0.882 222 488 159 98 159 8045 chr11 60696399 60696399 G A rs61751216 TMEM132A Nonsynonymous SNV R278Q 0.03 0.031 0.034 11 35 12 0.028 10 0 1 0 1 19.64 8046 chr11 61658800 61658800 C T rs174465 FADS3 Synonymous SNV A18A 0.63 0.682 0.639 246 740 262 0.631 188 242 88 66 79 15.64 8047 chr2 29226498 29226498 G A rs12613325 TOGARAM2 Synonymous SNV P260P 0.762 0.742 0.786 295 895 285 0.756 231 342 106 89 116 6.248 8048 chr11 95825797 95825797 A G rs7931870 MAML2 Synonymous SNV S466S 0.624 0.643 0.571 251 733 247 0.644 168 219 75 48 81 0.006 8049 chr2 29226512 29226512 A G rs12623297 TOGARAM2 Nonsynonymous SNV Q265R 0.848 0.833 0.857 330 995 320 0.846 252 425 132 107 141 12.01 8050 chr11 9749645 9749645 A C rs397686 SWAP70 Synonymous SNV R172R 0.26 0.255 0.289 119 305 98 0.305 85 36 10 9 14 1.227 8051 chr11 9754221 9754221 C T rs360157 SWAP70 Synonymous SNV N290N 0.601 0.586 0.612 229 706 225 0.587 180 243 81 62 78 12.47 8052 chr11 9769562 9769562 C G rs415895 SWAP70 Nonsynonymous SNV Q447E 0.704 0.714 0.741 265 826 274 0.679 218 287 96 79 94 12.72 8053 chr2 29246044 29246044 T C rs6721861 TOGARAM2 Nonsynonymous SNV V480A 0.329 0.328 0.333 124 386 126 0.318 98 63 22 15 16 9.189 8054 chr11 9830595 9830595 G A rs11042500 SBF2-AS1 0.447 0.432 0.463 193 525 166 0.495 136 119 37 36 49 Benign 6.725 8055 chr11 60776103 60776103 T C rs61899223 CD6 Synonymous SNV T189T 0.179 0.172 0.16 69 210 66 0.177 47 16 2 3 5 0.016 8056 chr2 29256374 29256374 C T rs60403047 TOGARAM2 Nonsynonymous SNV R533C 0.085 0.078 0.071 34 100 30 0.087 21 2 1 0 2 19.59 8057 chr11 985547 985547 C T rs10794358 AP2A2 Synonymous SNV L310L 0.629 0.615 0.612 232 738 236 0.595 180 234 74 54 73 16.09 8058 chr11 607175 607175 G A rs936468 PHRF1 Synonymous SNV P573P 0.199 0.24 0.241 80 234 92 0.205 71 27 14 4 8 6.213 8059 chr11 99690286 99690286 T G rs10790978 CNTN5 Nonsynonymous SNV S23A 0.474 0.474 0.507 185 557 182 0.474 149 8 2 5 3 2.203 8060 chr2 29274720 29274720 A G rs895591 TOGARAM2 Nonsynonymous SNV T750A 0.509 0.453 0.469 189 598 174 0.485 138 155 34 31 50 0.027 8061 chr11 99690376 99690376 C T rs12292659 CNTN5 Stop gain R53X 0.215 0.221 0.214 69 252 85 0.177 63 0 0 0 0 38 8062 chr11 99690428 99690428 T G rs7125822 CNTN5 Nonsynonymous SNV L70R 0.464 0.443 0.48 181 545 170 0.464 141 0 0 0 0 Benign 9.055 8063 chr11 61908440 61908440 T C rs2277283 INCENP Nonsynonymous SNV M506T 0.29 0.253 0.286 106 340 97 0.272 84 41 7 10 18 23.5 8064 chr2 29274730 29274730 G T rs7577483 TOGARAM2 Nonsynonymous SNV G753V 0.087 0.078 0.075 37 102 30 0.095 22 3 1 0 3 11.09 8065 chr11 99690461 99690461 A G rs10893933 CNTN5 Nonsynonymous SNV N81S 0.183 0.177 0.293 74 215 68 0.19 86 0 0 0 0 0.267 8066 chr11 60777073 60777073 G A rs12360861 CD6 Nonsynonymous SNV A271T 0.164 0.143 0.173 48 193 55 0.123 51 23 7 2 1 0.137 8067 chr11 60776307 60776307 G C rs79848107 CD6 Synonymous SNV A257A 0.17 0.159 0.16 67 199 61 0.172 47 16 2 3 5 8.447 8068 chr12 100042040 100042040 C G rs11109968 FAM71C Nonsynonymous SNV R30G 0.318 0.292 0.357 131 373 112 0.336 105 52 10 13 25 23.6 8069 chr2 29287926 29287926 - GCT rs139768554 PCARE S1225_E1226insS 0.328 0.352 0.408 121 385 135 0.31 120 63 24 19 17 8070 chr2 18736613 18736613 A G rs72775091 NT5C1B-RDH14, RDH14 Synonymous SNV T285T 0.048 0.063 0.048 14 56 24 0.036 14 1 2 0 0 1.048 8071 chr2 29294629 29294629 C T rs34253433 PCARE Synonymous SNV P833P 0.274 0.268 0.33 102 322 103 0.262 97 39 14 11 15 Benign 10.59 8072 chr2 19552913 19552913 C T rs12329305 OSR1 Synonymous SNV L218L 0.073 0.078 0.054 25 86 30 0.064 16 5 0 1 2 9.528 8073 chr12 100042163 100042163 A G rs11109969 FAM71C Nonsynonymous SNV M71V 0.317 0.292 0.357 131 372 112 0.336 105 52 10 13 25 0.001 8074 chr11 61914260 61914260 G A rs116873148 INCENP Nonsynonymous SNV R693Q 0.091 0.086 0.054 33 107 33 0.085 16 3 3 0 0 17.09 8075 chr2 29294754 29294754 G C rs17744093 PCARE Nonsynonymous SNV L792V 0.274 0.268 0.33 102 322 103 0.262 97 39 14 11 15 Benign 2.468 8076 chr11 60785463 60785463 C T rs12417503 CD6 Synonymous SNV A573A 0.164 0.148 0.17 48 193 57 0.123 50 23 7 2 1 18.42 8077 chr12 10041364 10041364 G A rs1797517 KLRF2 Nonsynonymous SNV V68I 0.773 0.784 0.782 310 907 301 0.795 230 355 120 94 121 10.47 8078 chr2 20133221 20133221 C T rs2293669 WDR35 Nonsynonymous SNV A867T 0.049 0.06 0.068 27 58 23 0.069 20 0 2 1 1 Benign 27.7 8079 chr2 29295016 29295016 A G rs10200693 PCARE Synonymous SNV N704N 0.34 0.362 0.418 126 399 139 0.323 123 66 26 20 20 Benign 0.168 8080 chr12 10046052 10046052 C A rs576601 KLRF2 Nonsynonymous SNV P131T 0.687 0.693 0.677 289 807 266 0.741 199 285 99 73 107 1.412 8081 chr11 58920492 58920492 C G rs116918730 FAM111A Nonsynonymous SNV Q451E 0.061 0.068 0.071 21 72 26 0.054 21 1 0 1 2 0.002 8082 chr2 29295676 29295676 G A rs13385188 PCARE Synonymous SNV S484S 0.336 0.357 0.415 126 394 137 0.323 122 63 25 19 20 Benign 8.012 8083 chr12 10069302 10069302 C T rs526680 CLEC2A Nonsynonymous SNV G136D 0.717 0.781 0.731 291 842 300 0.746 215 302 118 81 108 0.115 8084 chr2 29296870 29296870 C T rs62132765 PCARE Synonymous SNV R86R 0.274 0.268 0.33 102 322 103 0.262 97 39 14 11 15 Benign 10.78 8085 chr11 58978684 58978684 G A rs7926933 MPEG1 Nonsynonymous SNV P552L 0.119 0.12 0.129 49 140 46 0.126 38 9 3 2 0 15.82 8086 chr11 6221249 6221249 A G rs325609 OR52W1 Nonsynonymous SNV T266A 0.055 0.089 0.061 29 64 34 0.074 18 1 1 1 0 22.6 8087 chr2 29297068 29297068 C T rs35929540 PCARE Synonymous SNV Q20Q 0.274 0.266 0.33 102 322 102 0.262 97 39 14 11 15 Benign 9.601 8088 chr12 101017445 101017445 T C rs1469385 GAS2L3 Synonymous SNV L288L 0.781 0.779 0.752 278 917 299 0.713 221 353 118 83 98 3.786 8089 chr12 10149851 10149851 C T rs583903 CLEC1B Nonsynonymous SNV G31D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.01 8090 chr2 29356669 29356669 A G rs3100232 CLIP4 Synonymous SNV T172T 0.426 0.471 0.49 167 500 181 0.428 144 113 41 31 33 6.495 8091 chr11 609068 609068 G A rs7928902 PHRF1 Synonymous SNV A1204A 0.209 0.24 0.252 84 245 92 0.215 74 31 13 4 9 3.319 8092 chr12 10150974 10150974 A G rs2273986 CLEC1B Nonsynonymous SNV S24P 0.419 0.406 0.391 163 492 156 0.418 115 108 30 21 28 0.003 8093 chr2 29383256 29383256 G T rs3100246 CLIP4 Nonsynonymous SNV R486L 0.176 0.177 0.221 73 207 68 0.187 65 15 5 4 4 6.918 8094 chr11 609353 609353 G A rs11539530 PHRF1 Synonymous SNV P1299P 0.212 0.245 0.252 86 249 94 0.221 74 32 13 4 9 11.28 8095 chr11 60296879 60296879 C T rs11230364 MS4A13 Synonymous SNV Y57Y 0.123 0.117 0.126 51 144 45 0.131 37 11 6 3 2 5.962 8096 chr11 60501102 60501102 G A rs117959266 MS4A18 Synonymous SNV P189P 0.009 0.016 0.007 3 10 6 0.008 2 0 0 0 0 6.899 8097 chr2 29416366 29416366 G C rs1881421 ALK Nonsynonymous SNV D461E 0.332 0.391 0.31 139 390 150 0.356 91 67 23 14 20 Benign 0.003 8098 chr12 10151642 10151642 T C rs612593 CLEC1B Nonsynonymous SNV I20V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 8099 chr12 101552075 101552075 G A rs2671444 SLC5A8 Synonymous SNV Y554Y 0.652 0.695 0.66 261 766 267 0.669 194 257 94 71 87 0.132 8100 chr2 29416481 29416481 T C rs1881420 ALK Nonsynonymous SNV K423R 0.208 0.232 0.214 89 244 89 0.228 63 35 10 8 7 Benign 13.96 8101 chr12 10163375 10163375 C A rs1359082 CLEC12B Nonsynonymous SNV T6N 0.342 0.326 0.371 137 401 125 0.351 109 74 23 20 22 22.3 8102 chr11 6239139 6239139 A G rs11040809 FAM160A2 Synonymous SNV R559R 0.247 0.206 0.204 87 290 79 0.223 60 38 9 9 9 0.698 8103 chr12 10163379 10163379 C T rs1359083 CLEC12B Synonymous SNV Y7Y 0.315 0.313 0.333 125 370 120 0.321 98 63 21 17 16 10.69 8104 chr2 20824498 20824498 C T rs2305458 HS1BP3 Nonsynonymous SNV V260M 0.511 0.492 0.497 207 600 189 0.531 146 165 45 39 52 0.412 8105 chr2 29416572 29416572 T C rs1670283 ALK Nonsynonymous SNV I393V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.001 8106 chr12 10165469 10165469 A G rs476474 CLEC12B Synonymous SNV T59T 0.884 0.862 0.908 342 1038 331 0.877 267 458 144 121 151 0.019 8107 chr12 10167277 10167277 G C rs637790 CLEC12B Nonsynonymous SNV V116L 0.884 0.862 0.908 343 1038 331 0.879 267 458 144 121 152 0.561 8108 chr11 62439569 62439569 G A rs13941 UQCC3 Nonsynonymous SNV G89S 0.697 0.685 0.629 257 818 263 0.659 185 280 93 68 85 Benign 16.06 8109 chr2 29416615 29416615 G A rs56132472 ALK Synonymous SNV T378T 0.112 0.138 0.082 49 132 53 0.126 24 8 2 1 3 Benign 6.481 8110 chr12 101683929 101683929 C T rs703715 UTP20 Synonymous SNV N204N 0.541 0.557 0.551 222 635 214 0.569 162 162 59 45 67 12.19 8111 chr2 29445458 29445458 G T rs3795850 ALK Synonymous SNV G57G 0.187 0.216 0.221 80 220 83 0.205 65 28 11 8 5 Benign 11.39 8112 chr12 1017197 1017197 C T rs4766334 WNK1 Synonymous SNV Y2028Y 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 Benign 8.956 8113 chr2 29449819 29449819 C T rs2293563 ALK Synonymous SNV T1012T 0.212 0.224 0.218 90 249 86 0.231 64 29 10 7 8 Benign 12.4 8114 chr11 6262715 6262715 G A rs7129498 CNGA4 Synonymous SNV Q324Q 0.129 0.159 0.146 63 151 61 0.162 43 9 6 3 5 8.638 8115 chr12 101750814 101750814 T A rs10082778 UTP20 Nonsynonymous SNV L1882Q 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 11.42 8116 chr2 21231524 21231524 G A rs676210 APOB Nonsynonymous SNV P2739L 0.296 0.26 0.262 110 348 100 0.282 77 47 15 14 18 Benign/Likely benign 27.1 8117 chr2 29455267 29455267 A G rs2256740 ALK Synonymous SNV G845G 0.79 0.766 0.789 293 927 294 0.751 232 366 115 93 104 Benign 13.2 8118 chr11 62677220 62677220 G A rs2067480 CHRM1 Synonymous SNV S451S 0.075 0.078 0.071 19 88 30 0.049 21 4 2 0 0 9.702 8119 chr12 102064118 102064118 T C rs7139095 MYBPC1 Synonymous SNV I797I 0.954 0.938 0.976 373 1120 360 0.956 287 535 168 140 178 Benign 7.825 8120 chr2 29497967 29497967 G A rs35228363 ALK Nonsynonymous SNV T680I 0.019 0.016 0.02 4 22 6 0.01 6 0 1 0 0 Benign/Likely benign 25.3 8121 chr11 62678306 62678306 G T rs2067477 CHRM1 Synonymous SNV G89G 0.076 0.078 0.071 19 89 30 0.049 21 4 2 0 0 10.19 8122 chr12 10206925 10206925 A G rs7315231 CLEC9A Synonymous SNV T49T 0.694 0.68 0.69 278 815 261 0.713 203 303 92 72 98 0.029 8123 chr11 58491921 58491921 A T rs10896818 GLYAT Nonsynonymous SNV S17T 0.088 0.094 0.116 45 103 36 0.115 34 4 0 0 3 7.658 8124 chr11 613208 613208 T C rs1131665 IRF7 Nonsynonymous SNV Q383R 0.288 0.305 0.327 112 338 117 0.287 96 52 21 10 16 0.001 8125 chr11 61674118 61674118 C T rs174476 RAB3IL1 Synonymous SNV T159T 0.409 0.451 0.432 153 480 173 0.392 127 98 33 21 27 18.17 8126 chr12 102117589 102117589 C T rs11082 CHPT1 Synonymous SNV N343N 0.518 0.542 0.599 231 608 208 0.592 176 196 70 53 77 8.984 8127 chr2 29543663 29543663 T C rs2293564 ALK Synonymous SNV Q500Q 0.899 0.906 0.884 349 1056 348 0.895 260 472 159 114 156 Benign 0.013 8128 chr12 102158763 102158763 T C rs10778148 GNPTAB Synonymous SNV T644T 0.579 0.599 0.602 242 680 230 0.621 177 196 67 53 76 Benign 0.036 8129 chr11 62847453 62847453 T C rs7945121 SLC22A24 Nonsynonymous SNV I540V 0.832 0.799 0.735 313 977 307 0.803 216 408 125 81 129 0.022 8130 chr12 10251445 10251445 C G rs2306894 CLEC1A Nonsynonymous SNV G26A 0.863 0.909 0.857 338 1013 349 0.867 252 439 159 109 146 risk factor 0.021 8131 chr2 29543699 29543699 G A rs56165377 ALK Synonymous SNV G488G 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 Benign 10.4 8132 chr11 59623378 59623378 C A rs34324219 TCN1 Nonsynonymous SNV D301Y 0.101 0.094 0.146 33 118 36 0.085 43 5 0 5 1 Benign 21.1 8133 chr11 613297 613297 T G rs1061505 IRF7 Synonymous SNV G353G 0.288 0.302 0.32 112 338 116 0.287 94 52 21 10 16 3.37 8134 chr2 29940529 29940529 A T rs2246745 ALK Synonymous SNV P234P 0.835 0.828 0.816 335 980 318 0.859 240 406 132 101 145 Benign 0.089 8135 chr11 614318 614318 T C rs1061502 IRF7 Nonsynonymous SNV K192E 0.289 0.305 0.323 112 339 117 0.287 95 52 21 10 16 0.001 8136 chr12 103237468 103237468 G C rs772897 PAH Synonymous SNV L385L 0.797 0.773 0.786 306 936 297 0.785 231 368 117 89 118 Benign 2.348 8137 chr2 21233972 21233972 T C rs533617 APOB Nonsynonymous SNV H1923R 0.055 0.047 0.031 20 65 18 0.051 9 3 1 0 3 Benign/Likely benign 24.1 8138 chr2 30143499 30143499 G C rs4358080 ALK Synonymous SNV L9L 0.907 0.906 0.871 345 1065 348 0.885 256 482 157 115 150 Benign 4.714 8139 chr12 103246700 103246700 C T rs1042503 PAH Synonymous SNV V245V 0.281 0.271 0.276 113 330 104 0.29 81 60 17 10 20 Benign 15.65 8140 chr2 30381505 30381505 T C rs1137288 YPEL5 Synonymous SNV S54S 0.429 0.417 0.449 160 504 160 0.41 132 106 35 31 28 1.982 8141 chr12 103248924 103248924 C T rs1126758 PAH Synonymous SNV Q232Q 0.514 0.503 0.507 193 603 193 0.495 149 153 49 34 47 Benign 7.624 8142 chr2 30863092 30863092 C T rs12467646 LCLAT1 Synonymous SNV H246H 0.092 0.099 0.102 39 108 38 0.1 30 5 2 0 3 10.21 8143 chr12 103696182 103696182 T G rs79387839 C12orf42 Nonsynonymous SNV S263R 0.175 0.188 0.17 86 206 72 0.221 50 14 3 6 11 0.527 8144 chr2 30863108 30863108 A G rs12471868 LCLAT1 Nonsynonymous SNV I252V 0.096 0.099 0.102 39 113 38 0.1 30 7 2 0 3 0.001 8145 chr11 61511498 61511498 C T rs3741252 DAGLA Nonsynonymous SNV P889L 0.087 0.112 0.078 47 102 43 0.121 23 5 3 2 3 0.003 8146 chr2 21250914 21250914 G A rs679899 APOB Nonsynonymous SNV A618V 0.525 0.495 0.446 196 616 190 0.503 131 157 45 32 50 Benign/Likely benign 26.6 8147 chr11 62910849 62910849 T C rs1939749 SLC22A24 0.83 0.813 0.789 317 975 312 0.813 232 403 129 92 129 16.76 8148 chr12 104067812 104067812 C T rs11614418 STAB2 Synonymous SNV Y833Y 0.423 0.396 0.391 170 497 152 0.436 115 100 20 27 33 13.4 8149 chr12 104086631 104086631 C T rs703651 STAB2 Synonymous SNV N1113N 0.51 0.5 0.459 193 599 192 0.495 135 149 39 31 43 9.823 8150 chr11 62911079 62911079 G C rs1939748 SLC22A24 Nonsynonymous SNV T58S 0.83 0.813 0.789 317 974 312 0.813 232 403 129 92 129 12.41 8151 chr2 30957326 30957326 A G rs2276568 CAPN13 Nonsynonymous SNV I596T 0.078 0.094 0.092 36 92 36 0.092 27 4 1 1 4 25 8152 chr12 104092996 104092996 T C rs697210 STAB2 Synonymous SNV H1235H 0.254 0.32 0.245 105 298 123 0.269 72 37 20 8 13 0.082 8153 chr12 104100617 104100617 C T rs697212 STAB2 Synonymous SNV C1348C 0.428 0.438 0.405 186 502 168 0.477 119 109 34 23 45 9.611 8154 chr2 30976058 30976058 C T rs2926304 CAPN13 Synonymous SNV S316S 0.43 0.466 0.398 161 505 179 0.413 117 116 46 22 32 17.22 8155 chr11 63057925 63057925 G A rs1790218 SLC22A10 Stop gain W96X 0.566 0.573 0.568 206 665 220 0.528 167 187 63 51 52 35 8156 chr12 104126810 104126810 C T rs34699746 STAB2 Synonymous SNV T1770T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 13.29 8157 chr2 30980940 30980940 C T rs508405 CAPN13 Nonsynonymous SNV A280T 0.729 0.771 0.735 289 856 296 0.741 216 310 116 82 105 0.005 8158 chr12 104153004 104153004 C G rs2271637 STAB2 Nonsynonymous SNV L2401V 0.273 0.297 0.33 87 320 114 0.223 97 41 17 16 7 18.32 8159 chr11 63064823 63064823 T C rs576641 SLC22A10 Synonymous SNV I185I 0.617 0.635 0.612 227 724 244 0.582 180 226 76 59 62 0.281 8160 chr11 61719387 61719387 T C rs1800007 BEST1 Synonymous SNV L37L 0.302 0.31 0.248 135 355 119 0.346 73 64 15 13 26 Benign 15.9 8161 chr2 31178818 31178818 C T rs2288100 GALNT14 Synonymous SNV K164K 0.19 0.255 0.214 64 223 98 0.164 63 21 8 8 6 18.18 8162 chr11 63072310 63072310 C T rs1201559 SLC22A10 Nonsynonymous SNV P516L 0.568 0.578 0.568 207 667 222 0.531 167 189 63 51 53 25.3 8163 chr12 104171742 104171742 C T rs17034524 NT5DC3 Synonymous SNV L504L 0.158 0.143 0.15 50 186 55 0.128 44 16 3 2 5 15.19 8164 chr11 6008050 6008050 A G rs61738944 OR52L1 Synonymous SNV G37G 0.07 0.081 0.085 19 82 31 0.049 25 1 1 0 1 0.834 8165 chr2 23926233 23926233 C T rs72796138 KLHL29 Synonymous SNV I761I 0.144 0.143 0.122 61 169 55 0.156 36 14 7 2 6 19.93 8166 chr12 104186946 104186946 G T rs1866295 NT5DC3 Synonymous SNV R339R 0.24 0.198 0.276 89 282 76 0.228 81 37 5 11 8 13.35 8167 chr2 31414807 31414807 C G rs1562022 CAPN14 Synonymous SNV L424L 0.901 0.878 0.935 360 1058 337 0.923 275 482 150 128 166 5.354 8168 chr12 104237882 104237882 G A rs2576974 TTC41P 0 0 0.799 0 0 0 0 235 0 0 91 0 4.281 8169 chr12 104237889 104237889 G A rs77247938 TTC41P 0 0 0.078 0 0 0 0 23 0 0 1 0 5.618 8170 chr2 32667182 32667182 G C rs60197615 BIRC6 Nonsynonymous SNV V1332L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.2 8171 chr12 104237896 104237896 G A rs7966100 TTC41P 0 0 0.347 0 0 0 0 102 0 0 22 0 0.384 8172 chr2 24046426 24046426 G A rs75866363 ATAD2B Synonymous SNV A611A 0.06 0.052 0.085 32 70 20 0.082 25 2 2 0 2 13.48 8173 chr12 104260287 104260287 T C rs10778292 TTC41P 0 0 0.112 0 0 0 0 33 0 0 1 0 0.94 8174 chr11 63277334 63277334 A G rs117587231 LGALS12 Nonsynonymous SNV I114V 0.009 0.008 0.01 1 10 3 0.003 3 0 0 0 0 0.361 8175 chr2 32690189 32690189 A G rs35682129 BIRC6 Synonymous SNV Q1771Q 0.088 0.096 0.065 50 103 37 0.128 19 4 1 1 4 12.13 8176 chr12 104309712 104309712 C T rs2583273 TTC41P 0 0 0.724 0 0 0 0 213 0 0 77 0 1.861 8177 chr11 617378 617378 C T rs61877856 CDHR5 Synonymous SNV A643A 0.288 0.305 0.316 112 338 117 0.287 93 52 21 10 16 14.33 8178 chr11 6221214 6221214 T A rs11040799 OR52W1 Nonsynonymous SNV L254Q 0.773 0.771 0.731 297 907 296 0.762 215 344 112 78 115 26 8179 chr12 104324266 104324266 G A rs17797090 MIR3652 0.093 0.102 0.112 45 109 39 0.115 33 4 4 2 3 6.152 8180 chr2 32740783 32740783 G A rs371274962 BIRC6 Synonymous SNV A3765A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.1 8181 chr11 617420 617420 A G rs61877857 CDHR5 Synonymous SNV D629D 0.289 0.305 0.323 112 339 117 0.287 95 52 21 10 16 0.147 8182 chr12 10462052 10462052 T G rs10772256 KLRD1 Nonsynonymous SNV S25A 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.001 8183 chr2 24149439 24149439 G A rs61739076 ATAD2B Synonymous SNV L68L 0.059 0.07 0.112 37 69 27 0.095 33 13 5 2 6 9.707 8184 chr2 32855615 32855615 A G rs2710623 TTC27 Synonymous SNV L38L 1 1 0.942 389 1174 384 0.997 277 587 192 138 194 2.351 8185 chr11 617519 617519 A G rs34889521 CDHR5 Synonymous SNV A596A 0.288 0.305 0.32 112 338 117 0.287 94 52 21 10 16 0.012 8186 chr2 32961858 32961858 A G rs2273660 TTC27 Nonsynonymous SNV Y426C 0.147 0.169 0.153 61 173 65 0.156 45 17 4 2 5 26.6 8187 chr2 24290671 24290671 G A rs61742149 SF3B6 Synonymous SNV L113L 0.075 0.081 0.133 40 88 31 0.103 39 4 3 2 3 13.66 8188 chr12 104985443 104985443 G A rs61938575 MIR3922 0 0 0.194 0 0 0 0 57 0 0 11 0 2.406 8189 chr12 105199038 105199038 G A rs11112201 SLC41A2 Synonymous SNV S538S 0.088 0.096 0.129 35 103 37 0.09 38 4 5 2 2 8.911 8190 chr11 62293822 62293822 C T rs12366127 AHNAK Synonymous SNV K2689K 0.086 0.076 0.129 39 101 29 0.1 38 6 1 5 5 9.537 8191 chr12 10525740 10525740 C T rs1049172 KLRC4-KLRK1, KLRK1 Synonymous SNV T208T 0.682 0.648 0.677 245 801 249 0.628 199 267 76 64 78 12.45 8192 chr2 32983526 32983526 C T rs2273665 TTC27 Synonymous SNV N490N 0.338 0.31 0.306 122 397 119 0.313 90 71 17 17 17 12.8 8193 chr2 24344060 24344060 T G rs33913065 PFN4 Synonymous SNV A76A 0.212 0.19 0.18 81 249 73 0.208 53 23 9 4 8 9.709 8194 chr11 618013 618013 C T rs7108757 CDHR5 Nonsynonymous SNV A493T 0.209 0.237 0.248 86 245 91 0.221 73 32 13 4 9 0.334 8195 chr11 63585804 63585804 C A rs643634 SPINDOC Synonymous SNV R192R 0.443 0.404 0.466 173 520 155 0.444 137 113 40 31 37 22.1 8196 chr12 10532326 10532326 T C rs2255336 KLRC4-KLRK1, KLRK1 Nonsynonymous SNV T72A 0.783 0.755 0.782 293 919 290 0.751 230 366 113 89 109 2.443 8197 chr2 33172679 33172679 G A rs143551592 LTBP1 Synonymous SNV Q96Q 0.049 0.052 0.048 11 58 20 0.028 14 1 0 1 0 8.854 8198 chr2 24413298 24413298 A G rs2288073 FAM228A Nonsynonymous SNV Y140C 0.267 0.263 0.231 105 313 101 0.269 68 49 16 5 14 0.009 8199 chr2 33412077 33412077 G A rs1065324 LTBP1 Synonymous SNV A126A 0.457 0.383 0.466 175 536 147 0.449 137 124 28 37 39 8.959 8200 chr12 105380152 105380152 A C rs1129593 C12orf45 Nonsynonymous SNV K8Q 0.241 0.276 0.313 98 283 106 0.251 92 32 15 10 8 0.007 8201 chr2 24431184 24431184 C T rs2303291 ITSN2 Nonsynonymous SNV A1494T 0.256 0.271 0.197 101 301 104 0.259 58 47 14 1 13 24.2 8202 chr2 33447202 33447202 C T rs2290448 LTBP1 Synonymous SNV N294N 0.446 0.398 0.476 171 524 153 0.438 140 122 30 39 37 13.28 8203 chr11 60476230 60476230 C G rs780581740 MS4A8 Nonsynonymous SNV D170E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.66 8204 chr11 62346131 62346131 C T rs3888173 TUT1 Synonymous SNV G354G 0.05 0.047 0.051 14 59 18 0.036 15 3 2 0 0 13.3 8205 chr12 105546172 105546172 G A rs1663564 WASHC4 Nonsynonymous SNV V902I 0.966 0.982 0.956 375 1134 377 0.962 281 547 185 134 180 14.45 8206 chr2 33488419 33488419 G A rs12468099 LTBP1 Synonymous SNV T533T 0.287 0.276 0.269 106 337 106 0.272 79 50 18 10 15 13.09 8207 chr2 24432839 24432839 A G rs2303296 ITSN2 Synonymous SNV L1401L 0.257 0.271 0.197 101 302 104 0.259 58 47 14 1 13 9.128 8208 chr11 63884453 63884453 C T rs3751120 FLRT1 Synonymous SNV R238R 0.074 0.086 0.054 29 87 33 0.074 16 3 0 0 0 7.613 8209 chr2 33540248 33540248 G A rs1058840 LTBP1 Synonymous SNV P888P 0.595 0.612 0.578 221 699 235 0.567 170 224 76 44 65 13.6 8210 chr12 105568122 105568122 G A rs935241 APPL2 Synonymous SNV N661N 0.892 0.914 0.857 343 1047 351 0.879 252 467 160 110 151 9.011 8211 chr2 24524958 24524958 C T rs7603997 ITSN2 Nonsynonymous SNV V291I 0.352 0.378 0.269 122 413 145 0.313 79 77 25 10 20 16.33 8212 chr12 105568176 105568176 G A rs935240 APPL2 Synonymous SNV D643D 0.892 0.914 0.857 342 1047 351 0.877 252 467 160 110 150 9.845 8213 chr11 6238663 6238663 G A rs72910144 FAM160A2 Nonsynonymous SNV P718L 0.013 0.01 0.003 0 15 4 0 1 0 0 0 0 13.75 8214 chr12 105583818 105583818 C T rs201971126 APPL2 Nonsynonymous SNV D459N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 8215 chr2 33585796 33585796 T C rs4422143 LTBP1 Nonsynonymous SNV V1010A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.454 8216 chr11 60565921 60565921 C T rs12419635 MS4A10 Nonsynonymous SNV P219L 0.102 0.089 0.099 30 120 34 0.077 29 6 1 1 0 11.78 8217 chr12 105583877 105583877 G A rs2272495 APPL2 Nonsynonymous SNV A439V 0.175 0.182 0.211 79 206 70 0.203 62 16 2 7 6 11.46 8218 chr2 36704144 36704144 C T rs848547 CRIM1 Synonymous SNV T368T 0.563 0.583 0.541 222 661 224 0.569 159 188 65 37 62 18.47 8219 chr2 36782886 36782886 G A rs848642 FEZ2 Nonsynonymous SNV R329C 0.304 0.326 0.33 124 357 125 0.318 97 54 20 16 17 22.9 8220 chr12 105600935 105600935 G A rs2293643 APPL2 Synonymous SNV H181H 0.175 0.18 0.211 79 206 69 0.203 62 16 2 7 6 6.919 8221 chr11 621634 621634 G A rs2740373 CDHR5 Synonymous SNV P145P 0.193 0.211 0.19 70 227 81 0.179 56 25 7 5 6 7.015 8222 chr12 10603670 10603670 T C rs2253849 KLRC1 Nonsynonymous SNV N29S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.001 8223 chr11 63991581 63991581 G A rs11549690 TRPT1 Nonsynonymous SNV R222C 0.049 0.06 0.061 12 57 23 0.031 18 2 0 1 0 17.94 8224 chr2 36810586 36810586 T C rs14291 FEZ2 Synonymous SNV T134T 0.368 0.391 0.395 144 432 150 0.369 116 82 30 25 28 5.832 8225 chr12 10659438 10659438 T C rs10772299 EIF2S3B Nonsynonymous SNV S313P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 3.899 8226 chr2 36825137 36825137 G A rs1544655 FEZ2 Nonsynonymous SNV P50L 0.437 0.461 0.122 201 513 177 0.515 36 234 82 17 91 21.2 8227 chr12 106704974 106704974 G A rs4964460 TCP11L2 Nonsynonymous SNV A41T 0.731 0.74 0.718 291 858 284 0.746 211 311 104 73 106 12.74 8228 chr11 62848445 62848445 A G rs11231340 SLC22A24 Synonymous SNV L515L 0.561 0.552 0.48 209 659 212 0.536 141 190 60 34 56 1.202 8229 chr2 37035934 37035934 A G rs2072526 VIT Nonsynonymous SNV K534R 0.037 0.026 0.037 13 44 10 0.033 11 2 0 0 0 22 8230 chr2 25384456 25384456 - GCCGCTGCT rs10654394 POMC G99_A100insSSG 0.046 0.052 0.041 25 54 20 0.064 12 3 0 1 2 8231 chr11 62284888 62284888 G A rs11555628 AHNAK Synonymous SNV T5667T 0.062 0.063 0.082 33 73 24 0.085 24 3 0 2 0 8.064 8232 chr12 10675250 10675250 G C rs7980396 EIF2S3B Nonsynonymous SNV V453L 0.828 0.831 0.844 318 972 319 0.815 248 402 133 107 126 10.61 8233 chr11 62848568 62848568 C G rs11231342 SLC22A24 Synonymous SNV V474V 0.56 0.552 0.48 209 658 212 0.536 141 189 60 34 56 3.146 8234 chr2 37193385 37193385 C T STRN Synonymous SNV R74R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.61 8235 chr2 26177198 26177198 A G rs17047211 KIF3C Synonymous SNV Y609Y 0.198 0.208 0.269 87 233 80 0.223 79 25 11 12 10 1.977 8236 chr12 106838340 106838340 T C rs10861607 POLR3B Synonymous SNV Y627Y 0.313 0.276 0.303 106 368 106 0.272 89 69 15 10 13 Benign 0.033 8237 chr2 37306340 37306340 T C rs6758981 HEATR5B Synonymous SNV T87T 0.028 0.049 0.051 11 33 19 0.028 15 0 0 1 0 0.517 8238 chr11 59224765 59224765 A C rs17500380 OR4D6 Nonsynonymous SNV D111A 0.041 0.057 0.044 19 48 22 0.049 13 1 0 0 0 25.4 8239 chr11 62863518 62863518 A G rs7113279 SLC22A24 Nonsynonymous SNV S339P 0.554 0.536 0.48 201 650 206 0.515 141 181 57 33 51 13.96 8240 chr12 106893863 106893863 G T rs7137638 LOC100287944 0 0 0.514 0 0 0 0 151 0 0 39 0 0.948 8241 chr2 26203407 26203407 G A rs80296895 KIF3C Synonymous SNV Y460Y 0.012 0.008 0.01 8 14 3 0.021 3 0 0 0 0 0.708 8242 chr2 37306343 37306343 G A rs6743906 HEATR5B Synonymous SNV F86F 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 5.931 8243 chr12 106893930 106893930 A T rs7137444 LOC100287944 0 0 0.527 0 0 0 0 155 0 0 39 0 14.95 8244 chr2 37317869 37317869 C T rs4670654 GPATCH11 Nonsynonymous SNV T111I 0.998 0.995 0 389 1172 382 0.997 0 585 191 0 194 4.079 8245 chr11 640057 640104 CCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC - rs765323854 DRD4 R271_P286del 0.009 0.003 0.003 3 11 1 0.008 1 1 0 0 0 8246 chr2 37438993 37438993 G A rs1137437 CEBPZ Synonymous SNV S931S 0.412 0.391 0.313 167 484 150 0.428 92 94 27 27 35 9.047 8247 chr12 107395106 107395106 A G rs8192440 CRY1 Synonymous SNV G212G 0.573 0.547 0.633 224 673 210 0.574 186 219 64 59 71 12.77 8248 chr11 64009879 64009879 G A rs4672 FKBP2 Nonsynonymous SNV R7Q 0.06 0.07 0.078 16 71 27 0.041 23 2 0 2 0 20.4 8249 chr12 107713511 107713511 G C rs961498 BTBD11 Nonsynonymous SNV G265A 0.504 0.458 0.507 200 592 176 0.513 149 140 45 40 48 3.309 8250 chr2 37456032 37456032 C T rs2098386 CEBPZ Nonsynonymous SNV V102I 0.856 0.852 0.915 330 1005 327 0.846 269 442 142 123 140 0.001 8251 chr11 62886800 62886800 G C rs4963245 SLC22A24 Nonsynonymous SNV R172G 0.335 0.318 0.296 111 393 122 0.285 87 59 20 18 15 23.1 8252 chr11 59426850 59426850 C T rs372793509 PATL1 Nonsynonymous SNV D74N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 8253 chr12 107713696 107713696 G A rs111260184 BTBD11 Nonsynonymous SNV A327T 0.503 0.458 0.503 203 590 176 0.521 148 141 45 39 50 15 8254 chr2 37518045 37518045 G C rs10177176 PRKD3 Synonymous SNV L175L 0.42 0.378 0.452 169 493 145 0.433 133 93 24 28 37 10.62 8255 chr11 640119 640119 C T rs762502 DRD4 Synonymous SNV C290C 0.624 0.591 0.255 254 733 227 0.651 75 284 87 34 94 11.23 8256 chr11 61548796 61548796 G A rs61747222 MYRF Nonsynonymous SNV R885H 0.02 0.021 0.01 4 23 8 0.01 3 0 0 1 0 11.11 8257 chr2 38179134 38179134 G A rs4670800 RMDN2 Nonsynonymous SNV G259D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 8258 chr2 26477125 26477125 - ACT rs1064793144 HADHB T2_I3insT 0.692 0.641 0.432 293 812 246 0.751 127 395 120 63 144 8259 chr12 10782115 10782115 T C rs3759259 STYK1 Nonsynonymous SNV S204G 0.568 0.607 0.565 214 667 233 0.549 166 186 69 48 52 12.6 8260 chr2 26508421 26508421 G A rs72851542 HADHB Synonymous SNV A442A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 14.65 8261 chr2 26532443 26532443 T C rs72851588 ADGRF3 Nonsynonymous SNV N851D 0.022 0.018 0.02 8 26 7 0.021 6 1 0 1 0 8.817 8262 chr2 38298139 38298139 T C rs1800440 CYP1B1 Nonsynonymous SNV N453S 0.21 0.232 0.194 97 246 89 0.249 57 31 8 8 14 Benign/Likely benign 24.1 8263 chr12 10783729 10783729 A G rs2290717 STYK1 Synonymous SNV S122S 0.431 0.388 0.429 177 506 149 0.454 126 110 27 27 34 0.015 8264 chr12 108618630 108618630 C T rs3764002 WSCD2 Nonsynonymous SNV T266I 0.245 0.227 0.279 85 288 87 0.218 82 38 8 15 9 26.9 8265 chr2 26534872 26534872 C T rs79413730 ADGRF3 Nonsynonymous SNV R376Q 0.023 0.023 0.02 8 27 9 0.021 6 1 0 1 0 9.673 8266 chr2 38298150 38298150 A G rs1056837 CYP1B1 Synonymous SNV D449D 0.635 0.62 0.605 270 745 238 0.692 178 246 71 50 94 Benign 0.004 8267 chr12 108686008 108686008 C G rs1057401 CMKLR1 Synonymous SNV V244V 0.497 0.477 0.503 193 584 183 0.495 148 153 44 40 41 8.651 8268 chr2 38298203 38298203 C G rs1056836 CYP1B1 Nonsynonymous SNV V432L 0.635 0.62 0.605 270 745 238 0.692 178 246 71 50 94 Benign/Likely benign 14.46 8269 chr12 10875488 10875488 T C rs1126501 YBX3 Nonsynonymous SNV T75A 0.199 0.214 0.17 71 234 82 0.182 50 24 13 3 6 5.238 8270 chr11 61675714 61675714 T C rs34281659 RAB3IL1 Nonsynonymous SNV T73A 0.047 0.049 0.037 21 55 19 0.054 11 2 0 0 0 0.001 8271 chr2 26536299 26536299 C G rs11886746 ADGRF3 Synonymous SNV P274P 0.315 0.307 0.33 152 370 118 0.39 97 48 18 21 31 5.802 8272 chr11 61675751 61675751 C T rs61898561 RAB3IL1 Synonymous SNV P60P 0.042 0.042 0.037 19 49 16 0.049 11 2 0 0 0 18.11 8273 chr12 10875525 10875525 G A rs1042085 YBX3 Synonymous SNV P62P 0.085 0.104 0.099 28 100 40 0.072 29 2 3 1 1 8.861 8274 chr2 38302238 38302238 A G rs781037234 CYP1B1 Synonymous SNV N98N 0 0 0 0 0 0 0 0 0 0 0 0 0.49 8275 chr11 64109118 64109118 T G rs647152 CCDC88B Nonsynonymous SNV D193E 0.312 0.341 0.279 123 366 131 0.315 82 59 20 11 15 2.829 8276 chr12 108918146 108918146 C T rs2303633 SART3 Synonymous SNV P887P 0.825 0.813 0.769 306 969 312 0.785 226 407 128 89 119 13 8277 chr2 39025555 39025555 G A rs1530853 DHX57 Synonymous SNV C1247C 0.658 0.628 0.602 257 773 241 0.659 177 250 71 54 85 13 8278 chr11 6238960 6238960 C A rs3750943 FAM160A2 Nonsynonymous SNV R619L 0.185 0.206 0.163 88 217 79 0.226 48 19 8 4 7 14.1 8279 chr2 26536727 26536727 C T rs74987785 ADGRF3 Nonsynonymous SNV V194I 0.024 0.036 0.024 11 28 14 0.028 7 1 0 1 0 7.209 8280 chr12 108954823 108954823 C T rs1063936 SART3 Synonymous SNV R36R 0.825 0.813 0.793 306 968 312 0.785 233 406 128 90 119 15.47 8281 chr11 64110683 64110683 G C rs479552 CCDC88B Synonymous SNV A365A 0.284 0.307 0.255 111 334 118 0.285 75 59 19 11 15 12.78 8282 chr2 39050141 39050141 A C rs3770681 DHX57 Synonymous SNV S993S 0.654 0.615 0.616 243 768 236 0.623 181 249 68 57 75 5.638 8283 chr12 108956417 108956417 T G rs10778647 ISCU Nonsynonymous SNV F7V 0.841 0.826 0.677 312 987 317 0.8 199 441 143 88 134 Benign 14.87 8284 chr2 39082344 39082344 T C rs7598922 DHX57 Nonsynonymous SNV N485S 0.634 0.633 0.605 234 744 243 0.6 178 232 75 53 73 3.119 8285 chr11 60059810 60059810 A G rs10750931 MS4A4A Nonsynonymous SNV K52E 0.187 0.109 0.214 85 219 42 0.218 63 28 2 5 12 7.393 8286 chr12 108956418 108956418 T G rs10778648 ISCU Nonsynonymous SNV F7C 0.839 0.826 0.677 312 985 317 0.8 199 441 143 88 134 Benign 18.15 8287 chr2 39187190 39187190 T C rs6755527 ARHGEF33 Nonsynonymous SNV S582P 0.917 0.911 0.925 349 1076 350 0.895 272 490 161 125 155 5.049 8288 chr11 62397114 62397114 T C rs76572368 GANAB Nonsynonymous SNV M480V 0.051 0.06 0.054 26 60 23 0.067 16 1 0 2 0 0.108 8289 chr12 108956433 108956433 C T rs2287555 ISCU Nonsynonymous SNV A12V 0.604 0.596 0.473 230 709 229 0.59 139 237 78 49 75 Benign 22.2 8290 chr2 26678040 26678040 G T rs3172008 DRC1 Nonsynonymous SNV S702I 0.071 0.078 0.065 46 83 30 0.118 19 1 3 1 5 6.281 8291 chr2 39187519 39187519 A G rs958412 ARHGEF33 Synonymous SNV K691K 0.911 0.904 0.884 345 1069 347 0.885 260 490 161 121 154 2.902 8292 chr12 108985786 108985786 G A rs759235601 TMEM119 Nonsynonymous SNV S125L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 8293 chr2 39187698 39187698 - CGCCGCCGT rs768544168 ARHGEF33 A756_R757insVAA 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 8294 chr2 26684706 26684706 G A rs61747275 OTOF Synonymous SNV F1107F 0.019 0.018 0.014 9 22 7 0.023 4 0 0 0 0 Benign 14.55 8295 chr2 39507417 39507417 T A rs3755176 MAP4K3 Synonymous SNV T549T 0.826 0.799 0.84 335 970 307 0.859 247 404 128 102 144 12.41 8296 chr2 26687761 26687761 G A rs17005371 OTOF Nonsynonymous SNV P956S 0.03 0.021 0.01 10 35 8 0.026 3 0 1 1 0 Benign 17.37 8297 chr12 108985945 108985945 A G rs7975237 TMEM119 Nonsynonymous SNV I72T 0.472 0.424 0.517 178 554 163 0.456 152 137 32 39 40 0.114 8298 chr2 39553351 39553351 C A rs35957290 MAP4K3 Nonsynonymous SNV V200L 0.01 0 0 5 12 0 0.013 0 0 0 0 0 Likely benign 26.2 8299 chr12 108986031 108986031 C T rs74504010 TMEM119 Synonymous SNV E43E 0.181 0.167 0.197 67 212 64 0.172 58 19 4 9 12 12.07 8300 chr2 26699126 26699126 C G rs4335905 OTOF Synonymous SNV L222L 0.381 0.417 0.381 158 447 160 0.405 112 79 32 19 38 Benign 0.31 8301 chr2 39583446 39583446 A G rs8545 MAP4K3 Synonymous SNV I63I 0.882 0.859 0.891 349 1036 330 0.895 262 452 140 117 155 8.84 8302 chr12 109017651 109017680 GAGTGGTCTGTGCCTCCGTGGGCACTGGTT - rs372173288 SELPLG Q151_T160del 0.181 0.161 0.197 73 212 62 0.187 58 16 3 8 14 8303 chr2 26700373 26700373 G A rs80356569 OTOF Nonsynonymous SNV R83C 0.026 0.044 0.024 16 30 17 0.041 7 1 0 0 0 Benign/Likely benign 33 8304 chr12 109511256 109511256 T C rs7967322 USP30 Synonymous SNV P213P 0.848 0.826 0.827 341 996 317 0.874 243 424 132 100 148 7.641 8305 chr2 42510018 42510018 A G rs6736913 EML4 Nonsynonymous SNV K225E 0.994 0.995 0.993 384 1167 382 0.985 292 580 190 145 189 15.05 8306 chr12 109527872 109527872 T C rs139644396 ALKBH2 Nonsynonymous SNV I141V 0.013 0.016 0.01 4 15 6 0.01 3 0 0 0 0 0.011 8307 chr2 26739423 26739423 T C rs11687696 OTOF Synonymous SNV T124T 0.233 0.242 0.238 94 274 93 0.241 70 31 13 7 9 Benign 0.008 8308 chr2 42515388 42515388 A G rs10202624 EML4 Nonsynonymous SNV I324V 0.899 0.906 0.901 352 1056 348 0.903 265 473 159 120 159 12.7 8309 chr12 109577735 109577735 C T rs2878960 ACACB Synonymous SNV S175S 0.718 0.706 0.67 265 843 271 0.679 197 308 101 64 93 11.35 8310 chr12 10958658 10958658 T C rs2537817 TAS2R8 Nonsynonymous SNV M308V 0.943 0.971 0.966 378 1107 373 0.969 284 541 183 138 185 0.001 8311 chr2 42515437 42515437 A G rs28651764 EML4 Nonsynonymous SNV K340R 0.274 0.273 0.272 126 322 105 0.323 80 48 13 10 18 17.14 8312 chr11 62559385 62559385 T C rs2584918 TMEM223 Nonsynonymous SNV T28A 0.074 0.055 0.061 19 87 21 0.049 18 6 0 1 0 0.001 8313 chr12 10959031 10959031 C T rs1548803 TAS2R8 Synonymous SNV L183L 0.61 0.635 0.571 256 716 244 0.656 168 220 74 49 85 6.795 8314 chr11 62010863 62010863 C T rs2232950 SCGB1D2 Nonsynonymous SNV P53L 0.367 0.352 0.367 142 431 135 0.364 108 81 25 22 22 19.33 8315 chr12 109617865 109617865 T C rs11065772 ACACB Synonymous SNV D597D 0.884 0.87 0.905 336 1038 334 0.862 266 466 146 120 146 0.007 8316 chr11 63883847 63883847 C T rs200588570 FLRT1 Synonymous SNV F36F 0.011 0.021 0.007 5 13 8 0.013 2 0 0 0 0 Benign 9.472 8317 chr2 42990336 42990336 T G rs1992286 OXER1 Synonymous SNV R328R 0.617 0.594 0.578 233 724 228 0.597 170 229 69 46 70 2.807 8318 chr12 10962115 10962115 A G rs3741845 TAS2R9 Nonsynonymous SNV V187A 0.619 0.635 0.585 258 727 244 0.662 172 228 74 52 87 0.001 8319 chr2 42990344 42990344 C T rs200634238 OXER1 Nonsynonymous SNV A326T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 8320 chr11 62569105 62569105 - AC rs146787397 NXF1 0.074 0.055 0.065 19 87 21 0.049 19 6 0 1 0 8321 chr11 64572602 64572602 G A rs2071313 MEN1 Synonymous SNV D423D 0.417 0.391 0.384 153 489 150 0.392 113 104 33 18 32 Benign 11.7 8322 chr2 26805761 26805761 C T rs7595964 CIB4 Synonymous SNV L153L 0.014 0.013 0.01 12 17 5 0.031 3 0 0 0 0 14.15 8323 chr11 62575025 62575025 A T rs2228626 STX5 Synonymous SNV S274S 0.074 0.055 0.065 19 87 21 0.049 19 6 0 1 0 0.024 8324 chr12 109629457 109629457 C T rs7135947 ACACB Synonymous SNV G728G 0.63 0.646 0.588 234 740 248 0.6 173 231 83 51 73 13.36 8325 chr11 60230531 60230531 C T rs2070770 MS4A1 Synonymous SNV I72I 0.047 0.052 0.071 14 55 20 0.036 21 1 0 2 0 Benign 14.86 8326 chr2 43015719 43015719 T C rs3816183 HAAO Nonsynonymous SNV I37V 0.845 0.849 0.874 321 992 326 0.823 257 420 141 112 133 0.013 8327 chr11 62592961 62592961 T C rs2228627 STX5 Synonymous SNV R158R 0.074 0.055 0.065 19 87 21 0.049 19 6 0 1 0 3.075 8328 chr12 109675029 109675029 T C rs2241220 ACACB Synonymous SNV L1502L 0.848 0.849 0.867 341 996 326 0.874 255 427 139 110 151 7.795 8329 chr11 63885572 63885572 C A rs147439962 FLRT1 Synonymous SNV I611I 0.011 0.021 0.007 5 13 8 0.013 2 0 0 0 0 Benign 12.57 8330 chr12 109693982 109693982 C T rs3742023 ACACB Synonymous SNV H2068H 0.344 0.339 0.33 119 404 130 0.305 97 70 19 17 16 13.88 8331 chr11 64597205 64597205 G T rs7936466 CDC42BPG Synonymous SNV G1235G 0.248 0.198 0.238 82 291 76 0.21 70 43 10 10 7 12.82 8332 chr11 62602983 62602983 A G rs2298636 WDR74 Synonymous SNV L180L 0.074 0.055 0.065 19 87 21 0.049 19 6 0 1 0 9.473 8333 chr12 109696838 109696838 G A rs2075260 ACACB Nonsynonymous SNV V2141I 0.798 0.786 0.816 308 937 302 0.79 240 371 118 97 125 16.64 8334 chr2 43625184 43625184 T A rs33979934 THADA Nonsynonymous SNV T1385S 0.254 0.221 0.245 83 298 85 0.213 72 41 7 7 13 0.002 8335 chr11 62677529 62677529 C T rs2067478 CHRM1 Synonymous SNV Q348Q 0.059 0.055 0.027 24 69 21 0.062 8 1 0 0 0 3.919 8336 chr12 109717697 109717697 A G rs10774641 FOXN4 Synonymous SNV L445L 0.468 0.456 0.459 171 550 175 0.438 135 135 37 32 41 4.583 8337 chr2 43902763 43902763 A C rs148112877 C1GALT1C1L Nonsynonymous SNV N233K 0.032 0.029 0.02 4 38 11 0.01 6 0 0 0 0 10.73 8338 chr11 64601933 64601933 T C rs7933683 CDC42BPG Synonymous SNV T764T 0.25 0.198 0.238 82 293 76 0.21 70 45 10 11 7 6.02 8339 chr2 27322424 27322424 G A rs114353144 KHK Nonsynonymous SNV V264I 0.005 0 0 4 6 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 8340 chr12 10978402 10978402 G A rs597468 TAS2R10 Nonsynonymous SNV T156M 0.97 0.979 0.969 381 1139 376 0.977 285 552 184 139 186 0.25 8341 chr2 43903066 43903066 A G rs3828297 C1GALT1C1L Synonymous SNV G132G 0.736 0.766 0.728 284 864 294 0.728 214 321 110 80 104 0.266 8342 chr2 43903164 43903164 G C rs146273900 C1GALT1C1L Nonsynonymous SNV L100V 0.025 0.023 0.007 4 29 9 0.01 2 0 0 0 0 9.984 8343 chr11 60703882 60703882 G A rs61755079 TMEM132A Nonsynonymous SNV V860M 0.042 0.023 0.037 21 49 9 0.054 11 0 0 0 0 23.1 8344 chr12 109835590 109835590 A G rs11611358 MYO1H Synonymous SNV K165K 0.336 0.333 0.35 123 395 128 0.315 103 63 21 17 22 5.581 8345 chr12 109848567 109848567 T C rs7315991 MYO1H Synonymous SNV S452S 0.539 0.57 0.575 220 633 219 0.564 169 166 63 49 62 8.024 8346 chr2 43903184 43903184 T C rs139124904 C1GALT1C1L Nonsynonymous SNV K93R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 13.21 8347 chr12 109853349 109853349 A G rs73194218 MYO1H Synonymous SNV P491P 0.097 0.115 0.102 38 114 44 0.097 30 4 1 2 2 1.151 8348 chr2 43903354 43903354 T C rs4952675 C1GALT1C1L Synonymous SNV Q36Q 0.71 0.747 0.701 276 833 287 0.708 206 300 106 73 99 2.471 8349 chr12 109883374 109883374 T C rs3825393 MYO1H Nonsynonymous SNV L1001P 0.679 0.719 0.745 280 797 276 0.718 219 269 100 78 101 10.93 8350 chr2 43926943 43926943 T A rs7606783 PLEKHH2 Synonymous SNV P282P 0.549 0.596 0.582 214 645 229 0.549 171 182 63 55 63 5.5 8351 chr11 61250246 61250246 G A rs140046775 PPP1R32 Nonsynonymous SNV R116Q 0.013 0.016 0.017 9 15 6 0.023 5 0 0 0 0 23.4 8352 chr12 109894028 109894028 A G rs2302706 KCTD10 Synonymous SNV V207V 0.19 0.174 0.17 69 223 67 0.177 50 26 6 6 4 2.29 8353 chr2 43931176 43931176 T C rs4953002 PLEKHH2 Synonymous SNV N569N 0.53 0.589 0.565 209 622 226 0.536 166 166 64 52 60 5.474 8354 chr2 27424636 27424636 G A rs1395 SLC5A6 Nonsynonymous SNV S481F 0.67 0.664 0.701 256 786 255 0.656 206 266 86 71 85 22.9 8355 chr11 61277031 61277031 C T rs1139011 LRRC10B Synonymous SNV L187L 0.063 0.063 0.068 31 74 24 0.079 20 3 0 0 2 18.52 8356 chr2 44079606 44079606 G A rs9282575 ABCG8 Synonymous SNV V225V 0.126 0.117 0.078 28 148 45 0.072 23 7 2 1 2 Benign 9.413 8357 chr12 109937534 109937534 G A rs7298565 UBE3B Nonsynonymous SNV R346Q 0.553 0.609 0.571 230 649 234 0.59 168 186 70 48 69 22.7 8358 chr11 60718792 60718792 C T rs150370599 SLC15A3 Nonsynonymous SNV V78I 0.083 0.049 0.065 27 97 19 0.069 19 4 0 0 0 6.342 8359 chr11 6477831 6477831 C T rs10606 TRIM3 Synonymous SNV P256P 0.203 0.26 0.269 85 238 100 0.218 79 24 14 13 9 11.9 8360 chr2 44104925 44104925 T C rs6544718 ABCG8 Nonsynonymous SNV V631A 0.802 0.831 0.854 332 942 319 0.851 251 371 131 107 139 Benign 0.021 8361 chr11 6478619 6478619 G A rs16913748 TRIM3 Synonymous SNV I82I 0.203 0.26 0.269 85 238 100 0.218 79 24 14 13 9 7.693 8362 chr12 109994870 109994870 A T rs9593 MMAB Nonsynonymous SNV M239K 0.549 0.602 0.571 230 644 231 0.59 168 183 71 48 69 Benign 0.527 8363 chr2 44209477 44209477 C T rs6741066 LRPPRC Synonymous SNV Q82Q 0.719 0.69 0.735 288 844 265 0.738 216 316 97 77 109 Benign 4.803 8364 chr12 10999708 10999708 T C rs1047699 PRR4 Nonsynonymous SNV R43G 0.814 0.87 0.772 340 956 334 0.872 227 382 147 89 149 0.002 8365 chr2 44502788 44502788 A C rs3738985 SLC3A1 Synonymous SNV G38G 0.793 0.818 0.854 313 931 314 0.803 251 370 128 109 127 Benign 0.002 8366 chr12 10999780 10999780 C T rs1063193 PRR4 Nonsynonymous SNV R96Q 0.605 0.63 0.578 256 710 242 0.656 170 208 73 48 85 0.97 8367 chr2 44547574 44547574 G A rs698761 SLC3A1 Nonsynonymous SNV M618I 0.69 0.708 0.738 268 810 272 0.687 217 291 96 80 92 Benign 1.508 8368 chr2 27505758 27505758 C T rs33994928 TRIM54 Synonymous SNV D53D 0.076 0.068 0.092 28 89 26 0.072 27 3 0 2 2 15.6 8369 chr12 110011229 110011229 G T rs10774774 MMAB Synonymous SNV R19R 0.277 0.333 0.303 121 325 128 0.31 89 43 23 11 20 Benign 9.516 8370 chr2 45171842 45171842 A G rs338074 SIX3 Synonymous SNV A314A 0.917 0.922 0.929 359 1077 354 0.921 273 495 163 126 166 Benign 9.892 8371 chr12 110011230 110011230 C T rs10774775 MMAB Nonsynonymous SNV R19H 0.276 0.333 0.303 121 324 128 0.31 89 43 23 11 20 Benign 27.6 8372 chr2 46707808 46707808 - AGCGGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGG rs70940616 TMEM247 Q152_Q153insRERQHEVVMEQLQ 0.25 0.245 0.327 129 294 94 0.331 96 99 25 22 39 8373 chr2 46739740 46739740 C T rs138593929 ATP6V1E2 Synonymous SNV E37E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.9 8374 chr12 110013879 110013879 G A rs7957619 MVK Nonsynonymous SNV S52N 0.139 0.156 0.143 66 163 60 0.169 42 11 4 2 6 Benign/Likely benign 0.002 8375 chr11 64055562 64055562 C T rs116483940 GPR137 Nonsynonymous SNV A220V 0.022 0.031 0.02 7 26 12 0.018 6 0 0 0 0 16.04 8376 chr2 46839477 46839477 T C rs1824050 PIGF Synonymous SNV A109A 0.164 0.138 0 66 193 53 0.169 0 45 10 0 13 1.074 8377 chr11 64809133 64809133 T G rs10792455 SAC3D1 Synonymous SNV A123A 0.912 0.938 0.799 348 1071 360 0.892 235 505 176 113 160 6.972 8378 chr11 59211015 59211015 G A rs144383577 OR5A1 Nonsynonymous SNV R125Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 8379 chr2 47168856 47168856 C G rs201805434 TTC7A Nonsynonymous SNV P59R 0.011 0.005 0 1 13 2 0.003 0 0 0 0 0 Benign/Likely benign 0.151 8380 chr11 64809167 64809167 A G rs10792456 SAC3D1 Nonsynonymous SNV T135A 0.951 0.953 0.779 371 1117 366 0.951 229 549 182 113 180 10.59 8381 chr12 110019338 110019338 C T rs2287218 MVK Synonymous SNV D170D 0.187 0.169 0.173 69 219 65 0.177 51 24 6 6 3 Benign 10.18 8382 chr12 110240838 110240838 T G rs3825394 TRPV4 Synonymous SNV R224R 0.565 0.563 0.548 229 663 216 0.587 161 183 64 44 62 Benign 8.616 8383 chr11 63233710 63233710 A G rs2275999 PLAAT5 Synonymous SNV L207L 0.07 0.06 0.061 28 82 23 0.072 18 3 1 1 1 2.591 8384 chr2 47301029 47301029 A G rs3739099 TTC7A Synonymous SNV V494V 0.089 0.078 0.071 30 104 30 0.077 21 5 1 1 2 9.065 8385 chr12 110340852 110340852 G A rs11539159 TCHP Synonymous SNV P7P 0.111 0.112 0.099 38 130 43 0.097 29 4 2 1 2 7.158 8386 chr2 47601106 47601106 T C rs1126497 EPCAM Nonsynonymous SNV M115T 0.344 0.396 0.378 142 404 152 0.364 111 65 31 22 24 Benign 0.238 8387 chr12 110341933 110341933 A G rs10774978 TCHP Nonsynonymous SNV K127R 0.163 0.193 0.17 62 191 74 0.159 50 14 6 4 6 0.205 8388 chr2 47748292 47748292 A G rs2278139 KCNK12 Synonymous SNV G349G 0.289 0.341 0.374 117 339 131 0.3 110 59 27 21 20 0.096 8389 chr12 110456175 110456175 A G rs2302689 ANKRD13A Synonymous SNV P142P 0.158 0.193 0.17 59 186 74 0.151 50 14 6 4 6 4.644 8390 chr2 48036361 48036361 T C rs200771165 FBXO11 Nonsynonymous SNV S831G 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 not provided 20.9 8391 chr11 61675618 61675618 G A rs780930353 RAB3IL1 Stop gain Q105X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 8392 chr12 11061122 11061122 T C rs1015443 TAS2R13 Nonsynonymous SNV N259S 0.593 0.589 0.585 253 696 226 0.649 172 199 68 48 80 0.003 8393 chr2 27887034 27887034 C A rs9678851 SLC4A1AP Nonsynonymous SNV P139T 0.415 0.43 0.418 158 487 165 0.405 123 93 37 24 28 0.08 8394 chr2 48602252 48602252 C T rs17855177 FOXN2 Synonymous SNV S322S 0.222 0.19 0.201 118 261 73 0.303 59 30 6 8 15 13.23 8395 chr12 11091432 11091432 C T rs3741843 TAS2R14 Synonymous SNV R125R 0.844 0.87 0.803 342 991 334 0.877 236 416 145 93 149 11.88 8396 chr12 11091551 11091551 T C rs16925868 TAS2R14 Nonsynonymous SNV T86A 0.036 0.036 0.031 6 42 14 0.015 9 1 0 0 0 0.002 8397 chr2 48713777 48713777 C T rs33994624 PPP1R21 Synonymous SNV S442S 0.114 0.112 0.153 43 134 43 0.11 45 9 4 2 1 13.61 8398 chr11 64110668 64110668 G A rs574835 CCDC88B Synonymous SNV S360S 0.245 0.25 0.245 98 288 96 0.251 72 54 17 12 11 12.49 8399 chr11 60703403 60703403 G A rs524523 TMEM132A Nonsynonymous SNV R700H 0.066 0.073 0.048 24 78 28 0.062 14 4 2 0 0 4.135 8400 chr11 59245141 59245141 A G rs772720510 OR4D10 Nonsynonymous SNV K80R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 8401 chr2 28796065 28796065 C T rs200747209 PLB1 Synonymous SNV N453N 0.01 0.003 0 5 12 1 0.013 0 0 0 0 0 14.27 8402 chr2 48807796 48807796 A C rs17039250 STON1, STON1-GTF2A1L Nonsynonymous SNV K8N 0.294 0.25 0.296 118 345 96 0.303 87 53 10 12 21 1.138 8403 chr11 63449125 63449125 C A rs11551944 RTN3 Nonsynonymous SNV A6E 0.107 0.112 0.058 55 126 43 0.141 17 11 2 2 2 25.7 8404 chr12 111160003 111160003 G A rs1973505 PPP1CC Synonymous SNV C273C 0.141 0.164 0.133 54 166 63 0.138 39 8 7 3 3 11.11 8405 chr11 64898226 64898226 C T rs9971407 SYVN1 Synonymous SNV S337S 0.201 0.206 0.214 84 236 79 0.215 63 24 11 4 10 13.95 8406 chr12 111342558 111342558 G T rs34300256 CCDC63 Synonymous SNV V424V 0.191 0.195 0.163 74 224 75 0.19 48 25 9 3 7 0.583 8407 chr11 64950970 64950970 C T rs17583 CAPN1 Synonymous SNV I121I 0.309 0.328 0.241 109 363 126 0.279 71 53 16 13 14 11.21 8408 chr2 48807976 48807976 T C rs3828340 STON1, STON1-GTF2A1L Synonymous SNV D68D 0.299 0.266 0.299 125 351 102 0.321 88 55 11 12 23 0.002 8409 chr12 111375170 111375170 A G rs1056618 LINC01405 0 0 0.442 0 0 0 0 130 0 0 32 0 6.264 8410 chr12 111375172 111375172 C T rs1056620 LINC01405 0 0 0.442 0 0 0 0 130 0 0 32 0 7.895 8411 chr11 59423150 59423150 G A rs183877144 PATL1 Nonsynonymous SNV L293F 0.006 0.01 0.014 8 7 4 0.021 4 0 0 0 0 Likely benign 23.9 8412 chr11 64981522 64981522 C A rs11605576 SLC22A20P 0.337 0.359 0.293 118 396 138 0.303 86 63 22 14 18 13.61 8413 chr2 48808152 48808152 G C rs940389 STON1, STON1-GTF2A1L Nonsynonymous SNV R127T 0.317 0.271 0.33 130 372 104 0.333 97 61 12 16 24 1.838 8414 chr2 28824793 28824793 C G rs7601771 PLB1 Nonsynonymous SNV H868D 0.536 0.5 0.51 209 629 192 0.536 150 171 54 39 52 0.005 8415 chr12 11138683 11138683 C T rs10772397 TAS2R50 Synonymous SNV P259P 0.632 0.633 0.609 260 742 243 0.667 179 229 75 56 83 10.78 8416 chr11 64981587 64981587 G A rs11605632 SLC22A20P 0.391 0.411 0.357 146 459 158 0.374 105 85 31 21 27 10.93 8417 chr12 11138852 11138852 C T rs1376251 TAS2R50 Nonsynonymous SNV C203Y 0.404 0.404 0.401 176 474 155 0.451 118 86 30 21 36 0.124 8418 chr11 63531175 63531175 C G rs2959886 C11orf95 Synonymous SNV R584R 0.111 0.115 0.139 55 130 44 0.141 41 11 2 3 2 14.2 8419 chr11 64981837 64981837 C T rs12420456 SLC22A20P 0.336 0.354 0.235 118 395 136 0.303 69 63 21 14 18 11.1 8420 chr2 48808594 48808594 C T rs3749142 STON1, STON1-GTF2A1L Synonymous SNV S274S 0.475 0.406 0.459 179 558 156 0.459 135 135 30 29 38 1.681 8421 chr2 28825724 28825724 A T rs62131028 PLB1 Nonsynonymous SNV N893Y 0.02 0.018 0 9 23 7 0.023 0 0 0 0 0 Benign 22.8 8422 chr11 64124515 64124515 T C rs612448 CCDC88B Synonymous SNV P1460P 0.34 0.336 0.323 123 399 129 0.315 95 62 19 14 15 0.142 8423 chr12 11149711 11149711 C A rs10845279 TAS2R20 Nonsynonymous SNV R255L 0.439 0.44 0.435 183 515 169 0.469 128 107 35 27 39 0.013 8424 chr2 48808882 48808882 T A rs3749144 STON1, STON1-GTF2A1L Synonymous SNV P370P 0.294 0.247 0.293 118 345 95 0.303 86 53 10 12 21 4.977 8425 chr11 617491 617491 C G rs753083717 CDHR5 Nonsynonymous SNV E606Q 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 23.4 8426 chr11 64127744 64127744 A G rs521950 RPS6KA4 Synonymous SNV Q79Q 0.346 0.346 0.323 123 406 133 0.315 95 67 19 15 15 0.054 8427 chr2 48808898 48808898 C T rs3749145 STON1, STON1-GTF2A1L Synonymous SNV L376L 0.294 0.247 0.293 118 345 95 0.303 86 53 10 12 21 8.931 8428 chr2 28854958 28854958 C T rs2199619 PLB1 Nonsynonymous SNV A1307V 0.273 0.268 0.272 92 320 103 0.236 80 49 13 13 6 24.8 8429 chr12 11149720 11149720 A G rs10845280 TAS2R20 Nonsynonymous SNV F252S 0.439 0.44 0.435 183 515 169 0.469 128 107 35 27 39 0.007 8430 chr11 6412931 6412931 T C rs7951904 SMPD1 Synonymous SNV D212D 0.178 0.161 0.133 74 209 62 0.19 39 17 6 4 7 Benign/Likely benign 0.474 8431 chr11 6502780 6502780 C A rs11555935 TIMM10B Synonymous SNV R12R 0.18 0.211 0.231 83 211 81 0.213 68 19 10 9 6 12.94 8432 chr2 48809593 48809593 G T rs3792234 STON1, STON1-GTF2A1L Nonsynonymous SNV Q607H 0.479 0.422 0.463 185 562 162 0.474 136 137 32 28 41 0.001 8433 chr12 11149769 11149769 T C rs10845281 TAS2R20 Nonsynonymous SNV I236V 0.439 0.44 0.429 183 515 169 0.469 126 107 35 27 39 0.044 8434 chr11 64138805 64138805 T C rs11542299 RPS6KA4 Synonymous SNV N718N 0.292 0.305 0.286 106 343 117 0.272 84 51 15 12 10 5.882 8435 chr2 28865760 28865760 T C rs2272387 PLB1 Synonymous SNV L1393L 0.39 0.367 0.337 141 458 141 0.362 99 99 30 18 20 0.061 8436 chr11 6129193 6129193 A T rs149957525 OR56B4 Nonsynonymous SNV H62L 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 23.5 8437 chr2 48822381 48822381 G A rs2140551 STON1 Synonymous SNV K716K 0.644 0.646 0.629 245 756 248 0.628 185 258 74 61 80 13.7 8438 chr11 64138905 64138905 T G rs17857342 RPS6KA4 Nonsynonymous SNV S752A 0.252 0.237 0.279 88 296 91 0.226 82 51 15 12 10 0.002 8439 chr12 11150033 11150033 G T rs12226919 TAS2R20 Nonsynonymous SNV H148N 0.439 0.44 0.425 183 515 169 0.469 125 107 35 26 39 0.002 8440 chr11 65164357 65164357 C T rs12417665 FRMD8 Synonymous SNV A167A 0.113 0.102 0.092 43 133 39 0.11 27 6 1 0 3 18.99 8441 chr2 48873978 48873978 A G rs10432667 GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV N225D 0.312 0.333 0.344 110 366 128 0.282 101 63 25 19 16 7.338 8442 chr12 11150046 11150046 G T rs12226920 TAS2R20 Nonsynonymous SNV H143Q 0.439 0.44 0.425 183 515 169 0.469 125 107 35 26 39 0.005 8443 chr2 48898798 48898798 T A rs3920390 GTF2A1L, STON1-GTF2A1L Synonymous SNV V402V 0.95 0.945 0.966 361 1115 363 0.926 284 531 171 137 166 11.92 8444 chr12 11150214 11150214 G A rs11054142 TAS2R20 Synonymous SNV A87A 0.434 0.435 0.435 183 509 167 0.469 128 107 35 27 39 0.73 8445 chr11 618713 618713 C T rs139730150 CDHR5 Nonsynonymous SNV G610S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 8446 chr2 29169612 29169612 T C rs3087649 WDR43 Synonymous SNV D667D 0.709 0.729 0.687 282 832 280 0.723 202 313 103 74 97 0.493 8447 chr12 11150319 11150319 T C rs11054143 TAS2R20 Synonymous SNV A52A 0.433 0.435 0.435 180 508 167 0.462 128 107 35 27 39 0.055 8448 chr2 48915871 48915871 A G rs11125179 LHCGR Synonymous SNV D355D 0.614 0.638 0.629 227 721 245 0.582 185 227 80 56 63 Benign 0.095 8449 chr12 111786082 111786082 G C rs6490073 CUX2 Nonsynonymous SNV V1410L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.798 8450 chr2 48921375 48921375 T C rs2293275 LHCGR Nonsynonymous SNV N312S 0.616 0.638 0.619 228 723 245 0.585 182 229 80 56 64 Benign 0.013 8451 chr11 6524072 6524072 A C rs11605196 DNHD1 Nonsynonymous SNV Q279P 0.179 0.195 0.221 78 210 75 0.2 65 19 11 9 5 1.378 8452 chr11 60899815 60899815 A T rs2232142 VPS37C Nonsynonymous SNV V182D 0.087 0.096 0.071 25 102 37 0.064 21 5 2 1 1 0.003 8453 chr12 11214101 11214101 C G rs768843374 TAS2R46 Nonsynonymous SNV E265Q 0.003 0 0.024 0 4 0 0 7 0 0 0 0 0.001 8454 chr2 48982755 48982755 - GCTGCA rs376653903 LHCGR Q18_P19insLQ 0.292 0.289 0.061 115 343 111 0.295 18 51 19 6 16 8455 chr2 50201110 50201110 A G rs9636391 NRXN1 Nonsynonymous SNV L10S 0.855 0.862 0.867 330 1004 331 0.846 255 435 146 110 144 Benign 17.05 8456 chr11 65270091 65270091 T - rs3842272 MALAT1, TALAM1 0.058 0.06 0.078 26 68 23 0.067 23 4 2 2 1 8457 chr12 11323994 11323994 G A rs7488102 SMIM10L1 Synonymous SNV R13R 0.598 0.604 0.541 257 702 232 0.659 159 202 68 49 83 18.21 8458 chr12 11324176 11324176 C A rs2416548 PRH1-PRR4 0.601 0.609 0.595 256 706 234 0.656 175 203 69 53 82 11.13 8459 chr11 65270104 65270104 A G rs1056816 MALAT1, TALAM1 0.03 0.042 0.037 14 35 16 0.036 11 1 0 1 1 10.62 8460 chr2 54115904 54115904 A G rs805400 PSME4 Synonymous SNV L1448L 0.292 0.307 0.357 114 343 118 0.292 105 51 16 21 16 10.59 8461 chr12 113319600 113319600 C T rs2240194 RPH3A Synonymous SNV N358N 0.455 0.448 0.401 188 534 172 0.482 118 119 34 22 42 14.26 8462 chr11 65293664 65293664 G A SCYL1 Nonsynonymous SNV V149M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 29.2 8463 chr12 113325629 113325629 T C rs4141253 RPH3A Synonymous SNV F421F 0.433 0.43 0.412 183 508 165 0.469 121 105 32 24 41 5.383 8464 chr2 54120025 54120025 A T rs805408 PSME4 Nonsynonymous SNV S1371T 0.298 0.318 0.357 119 350 122 0.305 105 50 16 20 17 15 8465 chr11 61722645 61722645 C A rs1109748 BEST1 Synonymous SNV I13I 0.072 0.081 0.085 30 85 31 0.077 25 7 1 2 0 Benign 22.5 8466 chr11 65319751 65319751 G A rs11545200 LTBP3 Nonsynonymous SNV A438V 0.056 0.057 0.075 27 66 22 0.069 22 3 1 2 1 26 8467 chr12 113348870 113348870 G A rs1131454 OAS1 Nonsynonymous SNV G162S 0.502 0.526 0.544 204 589 202 0.523 160 134 50 49 45 Uncertain significance 5.609 8468 chr2 54120820 54120820 G A rs805412 PSME4 Synonymous SNV C1343C 0.417 0.424 0.486 165 489 163 0.423 143 107 31 36 30 9.631 8469 chr12 113357193 113357193 G A rs10774671 OAS1 0.604 0.633 0.619 234 709 243 0.6 182 211 76 57 63 6.823 8470 chr2 54127041 54127041 C T rs805423 PSME4 Synonymous SNV Q1133Q 0.466 0.461 0.534 185 547 177 0.474 157 128 41 39 41 14.3 8471 chr2 54133744 54133744 T C rs805316 PSME4 Synonymous SNV S978S 0.263 0.242 0.282 105 309 93 0.269 83 36 8 11 13 8.801 8472 chr12 113357209 113357209 G A rs1131476 OAS1 Nonsynonymous SNV A352T 0.609 0.633 0.629 234 715 243 0.6 185 215 76 60 63 3.844 8473 chr2 54200930 54200930 G A rs10168293 ACYP2 Synonymous SNV T15T 0.367 0.365 0 141 431 140 0.362 0 77 20 0 28 6.51 8474 chr12 113357237 113357237 G C rs1051042 OAS1 Nonsynonymous SNV R361T 0.609 0.633 0.629 234 715 243 0.6 185 215 76 60 63 0.177 8475 chr2 54284441 54284441 G A rs1363061 ACYP2 Stop gain W43X 0.105 0.096 0 22 123 37 0.056 0 4 1 0 0 28.4 8476 chr2 54482964 54482964 C T rs843704 TSPYL6 Nonsynonymous SNV G109S 0.296 0.302 0.323 109 347 116 0.279 95 43 17 13 11 0.231 8477 chr12 113357442 113357442 G A rs2660 OAS1 Nonsynonymous SNV G397R 0.609 0.633 0.629 235 715 243 0.603 185 215 76 60 64 3.399 8478 chr11 65352654 65352654 C T EHBP1L1 Synonymous SNV A417A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.18 8479 chr2 54562012 54562012 C A rs55714450 C2orf73 Nonsynonymous SNV H29N 0.351 0.346 0.228 131 412 133 0.336 67 73 25 11 23 3.01 8480 chr11 6220759 6220759 C T rs141444024 OR52W1 Synonymous SNV C102C 0.023 0.031 0.024 13 27 12 0.033 7 1 1 0 0 8.85 8481 chr12 113369716 113369716 A - rs11352835 OAS1 T358Pfs*26 0.605 0.625 0.626 235 710 240 0.603 184 211 74 59 64 8482 chr11 64031241 64031241 C T rs35169799 PLCB3 Nonsynonymous SNV S778L 0.056 0.057 0.065 24 66 22 0.062 19 1 0 2 0 24.9 8483 chr12 113376388 113376388 G A rs1859330 OAS3 Nonsynonymous SNV R18K 0.595 0.622 0.544 233 699 239 0.597 160 210 74 54 65 1.873 8484 chr2 54587378 54587378 C G rs2280717 C2orf73 Synonymous SNV G60G 0.108 0.086 0.075 40 127 33 0.103 22 7 0 1 2 12.47 8485 chr12 113376452 113376452 C T rs1859329 OAS3 Synonymous SNV A39A 0.608 0.622 0.605 236 714 239 0.605 178 213 74 59 64 13.49 8486 chr11 65386206 65386206 C G rs1193851 PCNX3 Nonsynonymous SNV S458C 0.346 0.333 0.32 153 406 128 0.392 94 77 19 14 29 23 8487 chr12 11338613 11338613 C G rs1650017 TAS2R42 Nonsynonymous SNV A311P 0.826 0.865 0.793 335 970 332 0.859 233 398 143 91 142 0.003 8488 chr2 54587596 54587596 C T rs2280718 C2orf73 Nonsynonymous SNV P133L 0.741 0.75 0.741 294 870 288 0.754 218 321 104 81 112 23.2 8489 chr11 64794854 64794854 G A ARL2-SNX15 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 11.77 8490 chr11 65392695 65392695 C T rs1205259 PCNX3 Synonymous SNV L991L 0.346 0.336 0.313 156 406 129 0.4 92 77 19 14 30 16.54 8491 chr2 54587647 54587647 C T rs146106530 C2orf73 Nonsynonymous SNV A150V 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 0.558 8492 chr12 11338614 11338614 A G rs1669411 TAS2R42 Synonymous SNV N310N 0.826 0.865 0.793 335 970 332 0.859 233 398 143 91 142 0.019 8493 chr12 11338669 11338669 C T rs1669412 TAS2R42 Nonsynonymous SNV R292Q 0.216 0.245 0.197 75 253 94 0.192 58 23 10 5 6 24.4 8494 chr11 6541225 6541225 C G rs11603869 DNHD1 Nonsynonymous SNV Q560E 0.204 0.214 0.235 83 239 82 0.213 69 22 11 9 5 15.49 8495 chr2 54844790 54844790 C T rs2229506 SPTBN1 Synonymous SNV D191D 0.246 0.232 0.252 96 289 89 0.246 74 35 10 9 10 19.45 8496 chr11 64066999 64066999 C T rs953778 KCNK4 Nonsynonymous SNV P328L 0.138 0.164 0.15 62 162 63 0.159 44 10 2 3 2 23.4 8497 chr12 113386950 113386950 T C rs2285932 OAS3 Synonymous SNV I438I 0.629 0.659 0.68 235 738 253 0.603 200 230 82 68 63 0.278 8498 chr2 54858511 54858511 C T rs1052788 SPTBN1 Synonymous SNV N1096N 0.23 0.219 0.235 104 270 84 0.267 69 42 15 10 17 13.12 8499 chr12 11338750 11338750 T C rs1451772 TAS2R42 Nonsynonymous SNV Y265C 0.216 0.245 0.197 75 253 94 0.192 58 23 10 5 6 0.963 8500 chr2 54886347 54886347 G A rs1052820 SPTBN1 Synonymous SNV P2087P 0.233 0.237 0.262 110 274 91 0.282 77 39 16 11 19 15.46 8501 chr12 11338781 11338781 C A rs1669413 TAS2R42 Nonsynonymous SNV G255W 0.828 0.865 0.793 336 972 332 0.862 233 399 143 91 143 11.58 8502 chr2 55040426 55040426 A G rs2631840 EML6 Synonymous SNV P85P 0.858 0.867 0.864 337 1007 333 0.864 254 435 143 110 147 8.961 8503 chr2 55177822 55177822 T C rs77213467 EML6 Synonymous SNV G1373G 0.043 0.055 0.037 23 50 21 0.059 11 2 1 0 2 0.656 8504 chr12 113398919 113398919 G A rs2072136 OAS3 Synonymous SNV S567S 0.179 0.172 0.201 71 210 66 0.182 59 19 4 6 4 9.331 8505 chr11 62346145 62346145 C T rs753431533 TUT1 Nonsynonymous SNV G350S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 8506 chr2 55186394 55186394 A C rs17346629 EML6 Synonymous SNV R1617R 0.714 0.727 0.68 274 838 279 0.703 200 301 104 66 99 0.104 8507 chr12 113401199 113401199 G A rs45603631 OAS3 Synonymous SNV A722A 0.17 0.185 0.201 73 200 71 0.187 59 16 11 3 4 10.32 8508 chr12 113424893 113424893 C G rs2072138 OAS2 Synonymous SNV T76T 0.279 0.315 0.31 102 328 121 0.262 91 48 16 13 17 5.9 8509 chr2 55404794 55404794 G A rs14026 CLHC1 Nonsynonymous SNV A297V 0.467 0.477 0.452 189 548 183 0.485 133 131 45 31 52 7.747 8510 chr11 62361448 62361448 G A rs748199521 MTA2 Synonymous SNV L463L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.368 8511 chr12 113425154 113425154 C G rs1293767 OAS2 Nonsynonymous SNV S163R 0.627 0.651 0.68 234 736 250 0.6 200 229 80 68 61 1.914 8512 chr11 63970625 63970625 G A rs2070232 STIP1 Synonymous SNV A484A 0.083 0.089 0.078 42 97 34 0.108 23 6 2 0 1 15.91 8513 chr2 55407754 55407754 C T rs6716066 CLHC1 Nonsynonymous SNV V220I 0.964 0.969 0.963 379 1132 372 0.972 283 547 180 137 184 11.02 8514 chr11 6411935 6411935 T C rs1050228 SMPD1 Nonsynonymous SNV V36A 0.379 0.396 0.435 146 445 152 0.374 128 155 54 46 47 Benign 0.015 8515 chr12 113435450 113435450 A T rs1293755 OAS2 Synonymous SNV V251V 0.646 0.672 0.697 236 758 258 0.605 205 239 83 73 64 0.026 8516 chr11 63979162 63979162 C T rs17851033 FERMT3 Synonymous SNV A243A 0.083 0.089 0.071 42 97 34 0.108 21 6 2 0 1 17.32 8517 chr11 61914369 61914369 C T rs35595038 INCENP Synonymous SNV A729A 0.05 0.039 0.051 22 59 15 0.056 15 4 0 1 0 21.2 8518 chr12 113448288 113448288 A G rs15895 OAS2 X720W 0.593 0.612 0.619 216 696 235 0.554 182 208 73 55 56 5.872 8519 chr2 31215799 31215799 G A rs41280619 GALNT14 Synonymous SNV R68R 0.006 0.021 0.007 11 7 8 0.028 2 0 0 0 0 21.7 8520 chr2 55470115 55470115 C T rs11357 MTIF2 Nonsynonymous SNV V556I 0.757 0.763 0.684 289 889 293 0.741 201 335 114 83 109 9.074 8521 chr11 63993287 63993287 C T rs11549691 TRPT1 Nonsynonymous SNV G16S 0.083 0.089 0.068 42 97 34 0.108 20 6 2 0 1 14.44 8522 chr12 113532617 113532617 A G rs12427377 DTX1 Synonymous SNV R417R 0.156 0.167 0.146 87 183 64 0.223 43 4 7 5 7 7.317 8523 chr11 64120703 64120703 G A rs61744422 CCDC88B Synonymous SNV T1226T 0.014 0.01 0.027 7 16 4 0.018 8 0 0 1 0 11.75 8524 chr2 31399988 31399988 C T rs4592896 CAPN14 Nonsynonymous SNV V626I 0.232 0.26 0.238 107 272 100 0.274 70 26 13 7 11 13.56 8525 chr11 60285564 60285564 G A rs55756397 MS4A13 Nonsynonymous SNV G3D 0.029 0.029 0.037 8 34 11 0.021 11 1 0 1 0 25.8 8526 chr12 113532885 113532885 C T rs12426056 DTX1 Synonymous SNV Y475Y 0.154 0.167 0.146 87 181 64 0.223 43 4 7 5 7 13.98 8527 chr12 113537773 113537773 C T rs12422659 RASAL1 Synonymous SNV Q764Q 0.153 0.161 0.143 87 180 62 0.223 42 4 7 5 7 6.475 8528 chr2 55490819 55490819 G T rs1056445 MTIF2 Nonsynonymous SNV T59N 0.76 0.755 0.769 289 892 290 0.741 226 338 112 87 109 0.019 8529 chr11 62290876 62290876 G A rs77701059 AHNAK Synonymous SNV I3671I 0.037 0.039 0.075 15 44 15 0.038 22 0 0 0 1 11.14 8530 chr12 113542098 113542098 A G rs12423570 RASAL1 Synonymous SNV C612C 0.155 0.167 0.143 86 182 64 0.221 42 4 7 5 7 0.744 8531 chr2 31410653 31410653 C T rs7422120 CAPN14 Nonsynonymous SNV D520N 0.171 0.19 0.19 79 201 73 0.203 56 17 8 5 4 2.389 8532 chr11 65601560 65601560 G C rs17854357 SNX32 Synonymous SNV G8G 0.135 0.094 0.095 64 158 36 0.164 28 9 1 0 6 1.062 8533 chr12 113553481 113553481 C T rs1284879 RASAL1 Nonsynonymous SNV R321H 0.776 0.729 0.779 268 911 280 0.687 229 349 102 90 88 23.5 8534 chr2 55771161 55771161 A G rs1045910 CFAP36 Nonsynonymous SNV D243G 0.904 0.87 0.908 347 1061 334 0.89 267 479 147 123 152 13.3 8535 chr2 31411184 31411184 C A rs1465972 CAPN14 Nonsynonymous SNV K510N 0.173 0.193 0.19 83 203 74 0.213 56 17 8 5 5 16.82 8536 chr12 113554946 113554946 G A rs34456143 RASAL1 Synonymous SNV T221T 0.151 0.167 0.143 84 177 64 0.215 42 4 7 5 7 4.338 8537 chr2 55805440 55805440 T C rs2903704 PPP4R3B Nonsynonymous SNV I503V 0.952 0.93 0.983 371 1118 357 0.951 289 549 175 142 182 0.001 8538 chr12 113796566 113796566 A C rs7965471 PLBD2 Nonsynonymous SNV Q54P 0.585 0.581 0.497 232 687 223 0.595 146 199 72 44 67 0.004 8539 chr11 62294309 62294309 C T rs141117375 AHNAK Nonsynonymous SNV G2527D 0.066 0.039 0.092 22 77 15 0.056 27 5 0 3 0 23.3 8540 chr11 62751812 62751812 T C rs11568629 SLC22A6 Synonymous SNV P117P 0.055 0.065 0.044 17 64 25 0.044 13 2 2 0 0 4.574 8541 chr11 62751911 62751911 C A rs11568628 SLC22A6 Synonymous SNV P84P 0.056 0.065 0.044 17 66 25 0.044 13 2 2 0 0 10.02 8542 chr2 55883317 55883317 G T rs2627765 PNPT1 Synonymous SNV R464R 0.546 0.563 0.401 210 641 216 0.538 118 161 56 50 53 Benign 12.89 8543 chr12 114377899 114377899 G C rs7299217 RBM19 Nonsynonymous SNV Q602E 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 0.111 8544 chr2 31423443 31423443 G A rs17011001 CAPN14 Synonymous SNV A200A 0.127 0.169 0.139 61 149 65 0.156 41 10 6 3 6 11.74 8545 chr2 55912120 55912120 T C rs782572 PNPT1 Nonsynonymous SNV I121V 0.474 0.466 0.527 176 557 179 0.451 155 114 35 42 37 Benign 13.16 8546 chr11 60482518 60482518 G A rs560863829 MS4A8 Nonsynonymous SNV V187M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 8547 chr2 31571786 31571786 A G rs1884725 XDH Synonymous SNV F1010F 0.79 0.794 0.813 298 927 305 0.764 239 364 122 96 113 Benign 10.18 8548 chr12 116408538 116408538 A G rs2304460 MED13L Synonymous SNV T1976T 0.172 0.177 0.201 59 202 68 0.151 59 20 7 5 4 9.634 8549 chr2 31589847 31589847 G A rs2295475 XDH Synonymous SNV I737I 0.301 0.294 0.316 115 353 113 0.295 93 55 17 24 14 Benign 12.7 8550 chr2 56411817 56411817 C T rs35587531 CCDC85A Nonsynonymous SNV P20S 0.859 0.841 0.714 332 1009 323 0.851 210 446 140 96 141 16.3 8551 chr12 116429689 116429689 A G rs1865787 MED13L Synonymous SNV L1024L 0.181 0.185 0.204 62 213 71 0.159 60 21 7 5 4 0.002 8552 chr2 32402636 32402636 C T rs4258846 SLC30A6 Synonymous SNV N103N 0.295 0.315 0.221 131 346 121 0.336 65 50 12 15 23 6.251 8553 chr12 116446445 116446445 C T rs3741768 MED13L Synonymous SNV Q591Q 0.172 0.177 0.197 59 202 68 0.151 58 20 7 5 4 6.409 8554 chr2 58316814 58316814 A G rs1051061 VRK2 Nonsynonymous SNV I49V 0.406 0.448 0.401 164 477 172 0.421 118 92 40 30 33 23.9 8555 chr12 117187907 117187907 T C rs111256849 RNFT2 Synonymous SNV H115H 0.144 0.138 0.187 70 169 53 0.179 55 10 4 4 3 0.004 8556 chr2 32475109 32475109 G A rs455060 NLRC4 Synonymous SNV A608A 0.55 0.565 0.534 234 646 217 0.6 157 170 65 45 71 Benign 0.845 8557 chr12 117217141 117217141 T C rs4767452 RNFT2 Synonymous SNV A290A 0.894 0.893 0.878 350 1049 343 0.897 258 466 151 112 156 6.045 8558 chr2 32476390 32476390 T G rs408813 NLRC4 Synonymous SNV R181R 0.545 0.563 0.527 230 640 216 0.59 155 168 65 45 67 Benign 8.089 8559 chr12 117383320 117383320 G A rs4076700 FBXW8 Nonsynonymous SNV R126Q 0.85 0.82 0.799 335 998 315 0.859 235 429 130 91 141 23.5 8560 chr2 58388696 58388696 A G rs848291 FANCL Synonymous SNV S332S 0.603 0.583 0.582 230 708 224 0.59 171 209 66 51 67 Benign 10.46 8561 chr11 65636037 65636037 C T rs749794461 EFEMP2 Nonsynonymous SNV R264H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 22.9 8562 chr2 60687959 60687959 A G rs7569946 BCL11A Synonymous SNV S662S 0.6 0.594 0.565 235 704 228 0.603 166 211 68 50 71 0.01 8563 chr12 117465857 117465857 T C rs4529958 FBXW8 Synonymous SNV Y493Y 0.811 0.807 0.857 323 952 310 0.828 252 390 126 108 133 0.018 8564 chr12 117701714 117701714 A G rs2293054 NOS1 Synonymous SNV I398I 0.681 0.701 0.714 254 800 269 0.651 210 274 94 73 82 6.191 8565 chr2 61175312 61175312 T C rs12479056 PUS10 Synonymous SNV K216K 0.731 0.771 0.721 298 858 296 0.764 212 308 115 75 112 8.417 8566 chr11 60620166 60620166 - GCG rs55642873 PTGDR2 R343_T344insR 0.013 0.021 0.01 5 15 8 0.013 3 0 0 0 0 8567 chr11 64674834 64674834 C T rs141282404 ATG2A Nonsynonymous SNV G901S 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 0.025 8568 chr12 117993064 117993064 C T rs7955803 KSR2 Synonymous SNV P476P 0.19 0.182 0.238 87 223 70 0.223 70 17 7 9 12 15.5 8569 chr2 61275771 61275771 C G rs74350038 PEX13 Nonsynonymous SNV L360V 0.042 0.026 0.037 8 49 10 0.021 11 1 0 0 0 Benign 0.004 8570 chr2 32713706 32713706 A T rs2366894 BIRC6 Nonsynonymous SNV T2674S 0.497 0.516 0.599 207 583 198 0.531 176 198 69 57 71 7.413 8571 chr12 118020115 118020115 G A rs11068551 KSR2 Synonymous SNV L407L 0.442 0.417 0.432 158 519 160 0.405 127 119 37 31 30 13.7 8572 chr12 118199286 118199286 C G rs617641 KSR2 Synonymous SNV T172T 0.904 0.911 0.857 357 1061 350 0.915 252 480 160 106 165 5.873 8573 chr2 61304271 61304271 A G rs1729659 KIAA1841 Synonymous SNV K70K 0.343 0.32 0.323 146 403 123 0.374 95 61 19 16 32 2.677 8574 chr2 32822957 32822957 G A rs2710625 BIRC6 Synonymous SNV T4584T 0.405 0.409 0.384 162 476 157 0.415 113 93 29 22 35 12.88 8575 chr12 118506328 118506333 TCCTCC - rs72125532 VSIG10 E473_E474del 0.177 0.148 0.19 73 208 57 0.187 56 23 3 5 8 8576 chr2 61389737 61389737 T G rs1729674 C2orf74 Nonsynonymous SNV Y37D 0.49 0.492 0.51 197 575 189 0.505 150 137 44 41 48 23.8 8577 chr11 6239103 6239103 G C rs147897958 FAM160A2 Synonymous SNV T571T 0.001 0.013 0.003 3 1 5 0.008 1 0 0 0 0 0.975 8578 chr12 118509191 118509191 G A rs7307331 VSIG10 Nonsynonymous SNV H435Y 0.234 0.232 0.248 94 275 89 0.241 73 32 11 10 11 5.747 8579 chr11 64677368 64677368 T C rs144565308 ATG2A Nonsynonymous SNV Q631R 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 4.017 8580 chr11 62381083 62381083 - G rs527236104 ROM1 Frameshift insertion L114Afs*18 0.003 0 0 0 4 0 0 0 0 0 0 0 8581 chr11 60637010 60637010 G A rs145707301 ZP1 Nonsynonymous SNV D107N 0.01 0.003 0.01 6 12 1 0.015 3 0 0 0 0 23.1 8582 chr2 61413038 61413041 ATTA - rs140026987 AHSA2P 0.118 0.12 0.085 43 138 46 0.11 25 8 3 4 3 8583 chr12 118520170 118520170 G A rs7488309 VSIG10 Synonymous SNV Y142Y 0.402 0.398 0.415 162 472 153 0.415 122 95 39 28 35 6.049 8584 chr2 61413093 61413097 ATAAC - rs56750666 AHSA2P 0.131 0.154 0.095 61 154 59 0.156 28 9 7 2 2 8585 chr12 118682751 118682751 C T rs428073 TAOK3 Nonsynonymous SNV S47N 0.659 0.661 0.626 257 774 254 0.659 184 252 82 60 82 12.01 8586 chr2 61415492 61415492 A G rs14170 USP34 Synonymous SNV A3462A 0.513 0.516 0.544 214 602 198 0.549 160 146 49 45 56 1.373 8587 chr2 61468761 61468761 T C rs72884996 USP34 Synonymous SNV K2237K 0.135 0.125 0.129 55 158 48 0.141 38 13 3 5 5 3.65 8588 chr12 120067561 120067561 T C rs2301653 TMEM233 Synonymous SNV D69D 0.842 0.799 0.857 326 988 307 0.836 252 411 121 106 137 0.031 8589 chr2 33172602 33172602 G A LTBP1 Nonsynonymous SNV A71T 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 7.967 8590 chr2 61522123 61522123 T C rs13014347 USP34 Synonymous SNV E1474E 0.972 0.979 0.963 384 1141 376 0.985 283 555 184 139 189 4.597 8591 chr12 120110185 120110185 C T rs755243236 PRKAB1 Nonsynonymous SNV T80M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 8592 chr11 65403651 65403651 C A rs7114037 PCNX3 Nonsynonymous SNV H1822Q 0.05 0.049 0.048 15 59 19 0.038 14 0 1 1 0 11.34 8593 chr2 61566536 61566536 T C rs17008405 USP34 Synonymous SNV Q898Q 0.115 0.125 0.122 47 135 48 0.121 36 10 7 5 4 0.149 8594 chr2 33505202 33505202 G A rs61754247 LTBP1 Nonsynonymous SNV R704Q 0.026 0.023 0.024 16 30 9 0.041 7 0 0 1 1 Benign 23.3 8595 chr11 6569896 6569896 G A rs11606889 DNHD1 Nonsynonymous SNV V2374M 0.229 0.208 0.255 91 269 80 0.233 75 25 10 8 13 27.1 8596 chr12 120148363 120148363 C T rs35490437 CIT Synonymous SNV T1597T 0.019 0.016 0.014 7 22 6 0.018 4 0 0 0 0 17.83 8597 chr2 61575308 61575308 A G rs6722430 USP34 Nonsynonymous SNV M661T 0.968 0.974 0.963 381 1137 374 0.977 283 550 182 136 186 1.426 8598 chr12 120151493 120151493 T C rs7311975 MIR1178 0.03 0.026 0.041 14 35 10 0.036 12 0 1 1 0 1.005 8599 chr12 120156141 120156141 G A rs278102 CIT Synonymous SNV S1317S 0.293 0.284 0.316 135 344 109 0.346 93 51 16 16 25 15.31 8600 chr2 61647901 61647901 A G rs778155 USP34 Synonymous SNV Y37Y 0.274 0.313 0.289 106 322 120 0.272 85 46 21 16 14 1.156 8601 chr12 120171995 120171995 T C rs278109 CIT Synonymous SNV R1066R 0.886 0.852 0.884 337 1040 327 0.864 260 459 137 114 144 4.391 8602 chr2 62066927 62066927 A G rs4672457 FAM161A Synonymous SNV C404C 0.989 0.987 0.976 382 1161 379 0.979 287 574 187 140 187 Benign 0.007 8603 chr12 120189888 120189888 T C rs904654 CIT Synonymous SNV T915T 0.535 0.518 0.463 189 628 199 0.485 136 168 51 41 43 4.652 8604 chr2 62067433 62067433 T C rs17513722 FAM161A Nonsynonymous SNV I236V 0.225 0.208 0.228 82 264 80 0.21 67 36 10 12 7 Benign 15.47 8605 chr12 120575549 120575549 A C rs3864938 GCN1 Nonsynonymous SNV Y2155D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.283 8606 chr11 63072184 63072184 C T rs72926329 SLC22A10 Nonsynonymous SNV T474M 0.059 0.042 0.044 19 69 16 0.049 13 3 0 0 0 0.141 8607 chr2 62069358 62069358 T C rs11125895 FAM161A Nonsynonymous SNV I107M 0.141 0.125 0.214 58 166 48 0.149 63 14 0 9 7 Likely benign 10.2 8608 chr12 120589064 120589064 G C rs2286045 GCN1 Synonymous SNV A1398A 0.222 0.234 0.252 78 261 90 0.2 74 25 11 12 9 0.06 8609 chr12 120589160 120589160 A G rs2286046 GCN1 Synonymous SNV L1366L 0.817 0.828 0.782 322 959 318 0.826 230 383 131 97 131 1.551 8610 chr11 6579354 6579354 G C rs16915382 DNHD1 Synonymous SNV L2943L 0.178 0.182 0.156 73 209 70 0.187 46 11 7 4 9 0.019 8611 chr12 120591143 120591143 A G rs12312562 GCN1 Synonymous SNV Y1312Y 0.219 0.232 0.241 75 257 89 0.192 71 25 11 11 9 3.726 8612 chr2 62081012 62081012 A C rs4270331 FAM161A Synonymous SNV A55A 0.989 0.987 0.973 382 1161 379 0.979 286 574 187 140 187 Benign 0.115 8613 chr11 6580495 6580495 G A rs72901756 DNHD1 Synonymous SNV Q3167Q 0.14 0.146 0.112 61 164 56 0.156 33 5 4 1 8 0.747 8614 chr12 120608031 120608031 A G rs2286050 GCN1 Synonymous SNV T487T 0.217 0.227 0.235 74 255 87 0.19 69 25 9 10 9 10.07 8615 chr2 62729653 62729653 A G rs6713096 TMEM17 Synonymous SNV I79I 0.057 0.07 0.02 26 67 27 0.067 6 3 1 0 0 6.691 8616 chr2 37230734 37230734 C T rs17497654 HEATR5B Synonymous SNV Q1667Q 0.176 0.164 0.153 53 207 63 0.136 45 22 1 4 4 12.27 8617 chr12 120762765 120762765 C T rs5637 PLA2G1B Synonymous SNV S98S 0.116 0.081 0.109 35 136 31 0.09 32 6 1 1 1 13.88 8618 chr11 63175593 63175593 C T rs61742518 SLC22A9 Nonsynonymous SNV T433M 0.028 0.018 0.031 20 33 7 0.051 9 0 0 0 0 23.4 8619 chr2 62729674 62729674 T C rs4672527 TMEM17 Synonymous SNV L72L 0.872 0.849 0.837 321 1024 326 0.823 246 439 136 104 131 0.31 8620 chr11 62782278 62782278 C T rs4149180 SLC22A8 Synonymous SNV P51P 0.048 0.065 0.092 28 56 25 0.072 27 1 1 1 2 12.11 8621 chr12 120907271 120907271 G T rs11548262 SRSF9 Synonymous SNV R48R 0.069 0.068 0.065 41 81 26 0.105 19 1 1 2 2 16.56 8622 chr2 62733189 62733189 C T rs17854454 TMEM17 Nonsynonymous SNV G26S 0.126 0.146 0.092 45 148 56 0.115 27 14 2 3 2 14.79 8623 chr11 60709520 60709520 C A rs78193365 SLC15A3 Nonsynonymous SNV G365V 0.023 0.021 0.044 13 27 8 0.033 13 1 0 0 0 8.544 8624 chr12 120954490 120954490 C T rs3742049 COQ5 Nonsynonymous SNV A152T 0.069 0.068 0.065 41 81 26 0.105 19 1 1 2 2 23.1 8625 chr2 62733201 62733201 A T rs78110679 TMEM17 Nonsynonymous SNV S22T 0.046 0.055 0.017 23 54 21 0.059 5 2 1 0 0 7.219 8626 chr11 607241 607241 C T rs778904479 PHRF1 Synonymous SNV T595T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.52 8627 chr12 121017171 121017171 A G rs7174 POP5 Synonymous SNV L98L 0.768 0.81 0.755 300 902 311 0.769 222 341 123 88 117 12.02 8628 chr11 62677352 62677352 G A rs2067479 CHRM1 Synonymous SNV C407C 0.05 0.029 0.037 14 59 11 0.036 11 3 1 1 0 3.263 8629 chr11 6585670 6585670 C T rs16915423 DNHD1 Synonymous SNV D3464D 0.026 0.039 0.024 12 30 15 0.031 7 1 0 0 1 10.7 8630 chr2 38177525 38177525 A C rs11687301 RMDN2-AS1 0.451 0.495 0.473 172 529 190 0.441 139 135 53 34 40 0.395 8631 chr12 121154784 121154784 C T rs117990192 UNC119B Synonymous SNV I194I 0.016 0.008 0.02 10 19 3 0.026 6 0 0 0 0 14.69 8632 chr11 6585838 6585838 G A rs11825255 DNHD1 Synonymous SNV Q3520Q 0.049 0.065 0.058 19 58 25 0.049 17 1 0 1 1 0.568 8633 chr2 62733253 62733253 C T rs11676567 TMEM17 Synonymous SNV P4P 0.344 0.333 0.293 121 404 128 0.31 86 79 17 19 17 19.96 8634 chr2 38178406 38178406 A G rs4670799 RMDN2 Synonymous SNV R16R 0.462 0.49 0.48 177 542 188 0.454 141 126 51 33 39 1.313 8635 chr12 121416622 121416622 C G rs1169289 HNF1A Synonymous SNV L17L 0.552 0.471 0.558 198 648 181 0.508 164 175 37 45 45 Benign 6.32 8636 chr11 6588553 6588553 C T rs56313830 DNHD1 Synonymous SNV G3938G 0.056 0.068 0.061 20 66 26 0.051 18 1 0 2 1 17.1 8637 chr2 63176139 63176139 A C rs17432615 EHBP1 Nonsynonymous SNV K720Q 0.101 0.089 0.061 39 119 34 0.1 18 9 2 0 2 11.1 8638 chr12 121437382 121437382 A G rs1169305 HNF1A Nonsynonymous SNV S574G 1 1 0.888 389 1174 384 0.997 261 587 192 130 194 Benign 5.414 8639 chr2 63660902 63660902 C T rs17617459 WDPCP Nonsynonymous SNV G109S 0.04 0.052 0.01 18 47 20 0.046 3 1 1 0 0 Benign 10.05 8640 chr12 121442199 121442199 T A rs3751151 C12orf43 Synonymous SNV T150T 0.279 0.328 0.252 119 327 126 0.305 74 47 22 10 17 6.968 8641 chr2 64193078 64193078 G A VPS54 Nonsynonymous SNV A160V 0 0 0 0 0 0 0 0 0 0 0 0 23 8642 chr12 121442214 121442214 G A rs3751150 C12orf43 Synonymous SNV I145I 0.057 0.073 0.051 19 67 28 0.049 15 4 0 0 1 7.17 8643 chr11 66102088 66102088 G A rs3814740 RIN1 Synonymous SNV P366P 0.101 0.099 0.146 47 119 38 0.121 43 7 2 5 3 2.208 8644 chr2 38302177 38302177 C A rs1056827 CYP1B1 Nonsynonymous SNV A119S 0.296 0.24 0.306 116 347 92 0.297 90 59 9 13 20 Benign 1.284 8645 chr12 121454257 121454257 T A rs2258227 C12orf43 Synonymous SNV T7T 0.872 0.862 0.857 333 1024 331 0.854 252 442 144 107 140 9.116 8646 chr2 65540905 65540905 C G rs8827 SPRED2 Synonymous SNV A326A 0.318 0.326 0.289 142 373 125 0.364 85 65 19 12 28 13.41 8647 chr11 66105194 66105194 G A rs1052566 BRMS1 Nonsynonymous SNV A273V 0.279 0.302 0.282 130 327 116 0.333 83 41 21 6 25 8.885 8648 chr2 67624799 67624799 C G rs76623705 ETAA1 Synonymous SNV P73P 0.025 0.013 0.003 12 29 5 0.031 1 1 1 0 0 19.16 8649 chr12 121592689 121592689 T C rs17525809 P2RX7 Nonsynonymous SNV V76A 0.078 0.063 0.075 31 92 24 0.079 22 5 1 0 3 0.136 8650 chr2 38302390 38302390 G C rs10012 CYP1B1 Nonsynonymous SNV R48G 0.29 0.232 0.306 114 340 89 0.292 90 59 8 13 20 Benign 0.412 8651 chr2 67630980 67630980 G A rs3770657 ETAA1 Nonsynonymous SNV S389N 0.764 0.753 0.731 308 897 289 0.79 215 348 109 78 120 0.008 8652 chr12 121600253 121600253 T C rs208294 P2RX7 Nonsynonymous SNV Y155H 0.528 0.542 0.561 218 620 208 0.559 165 163 57 41 62 22.9 8653 chr11 66114900 66114900 C T rs11537930 B4GAT1 Synonymous SNV Q39Q 0.101 0.099 0.143 50 119 38 0.128 42 7 1 5 3 Benign 9.238 8654 chr2 38536626 38536626 T G rs2305243 ATL2 Synonymous SNV R151R 0.403 0.401 0.361 151 473 154 0.387 106 96 27 16 29 8.835 8655 chr2 67631831 67631831 G A rs61740794 ETAA1 Nonsynonymous SNV E673K 0.476 0.523 0.456 198 559 201 0.508 134 142 53 37 53 1.631 8656 chr12 121615103 121615103 G A rs1718119 P2RX7 Nonsynonymous SNV A348T 0.346 0.318 0.391 149 406 122 0.382 115 74 19 22 28 17.84 8657 chr2 38604351 38604351 A G rs3731847 ATL2 Nonsynonymous SNV W18R 0.437 0.427 0.276 173 513 164 0.444 81 109 34 17 40 5.104 8658 chr12 121622520 121622520 A T rs1653624 P2RX7 Nonsynonymous SNV N568I 0.992 1 0.993 389 1165 384 0.997 292 578 192 145 194 17.52 8659 chr11 637362 637373 GCGGGGGCATCT - rs572586776 DRD4 A26_G29del 0.042 0.047 0.037 15 49 18 0.038 11 2 2 0 0 8660 chr2 67632125 67632125 C T rs3770655 ETAA1 Nonsynonymous SNV P771S 0.763 0.753 0.741 308 896 289 0.79 218 347 109 81 120 0.001 8661 chr11 66331458 66331458 A G rs572846 CTSF Synonymous SNV R467R 0.529 0.516 0.493 181 621 198 0.464 145 162 48 41 41 Benign 1.52 8662 chr11 62951262 62951262 G A rs118140791 SLC22A25 Synonymous SNV L286L 0.012 0.018 0.017 7 14 7 0.018 5 0 0 0 0 8.432 8663 chr11 66333598 66333598 C T rs545009 CTSF Synonymous SNV R254R 0.527 0.516 0.52 182 619 198 0.467 153 161 48 42 42 Benign 9.61 8664 chr12 121622563 121622563 G A rs1621388 P2RX7 Synonymous SNV P582P 0.342 0.315 0.374 148 402 121 0.379 110 72 19 22 28 11.03 8665 chr2 68364478 68364478 T C rs13009282 WDR92 Nonsynonymous SNV M241V 0.193 0.221 0.214 65 226 85 0.167 63 28 10 6 7 13.27 8666 chr12 121659917 121659917 G A rs25642 P2RX4 Synonymous SNV V125V 0.06 0.073 0.095 34 71 28 0.087 28 2 2 0 0 1.842 8667 chr11 66335548 66335548 A G rs1127894 CTSF Synonymous SNV G73G 0.524 0.513 0.51 181 615 197 0.464 150 161 48 42 41 Benign 1.43 8668 chr12 121660787 121660787 T C rs25643 P2RX4 Synonymous SNV S155S 0.396 0.388 0.439 164 465 149 0.421 129 83 30 27 36 0.03 8669 chr12 121671433 121671433 C A P2RX4 Synonymous SNV T333T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 8670 chr12 121691088 121691088 G T rs3815990 CAMKK2 Synonymous SNV I365I 0.06 0.073 0.095 34 71 28 0.087 28 2 2 0 0 11.73 8671 chr2 68385097 68385097 A G rs2044693 PNO1 Nonsynonymous SNV R11G 0.685 0.685 0.687 254 804 263 0.651 202 288 92 75 82 7.553 8672 chr11 66472221 66472221 G A rs144939155 SPTBN2 Synonymous SNV G842G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.701 8673 chr11 65357637 65357637 G A rs199963590 EHBP1L1 Nonsynonymous SNV R622Q 0.009 0.018 0.003 4 10 7 0.01 1 0 0 0 0 33 8674 chr12 121712077 121712077 T A rs3817190 CAMKK2 Nonsynonymous SNV T85S 0.451 0.445 0.401 162 529 171 0.415 118 116 38 24 31 0.001 8675 chr2 68511584 68511584 A G rs735815 CNRIP1 Synonymous SNV S121S 0.429 0.453 0.446 143 504 174 0.367 131 113 36 33 25 0.024 8676 chr12 121746337 121746337 C T rs116573315 ANAPC5 Synonymous SNV R626R 0.006 0.008 0.003 5 7 3 0.013 1 0 0 0 0 16.88 8677 chr2 39109558 39109558 G A rs3099950 MORN2 Nonsynonymous SNV E48K 0.101 0.104 0.099 56 118 40 0.144 29 4 0 2 4 23.7 8678 chr2 68546374 68546374 T C rs4671898 CNRIP1 Synonymous SNV K53K 0.5 0.513 0.255 203 587 197 0.521 75 157 53 25 52 11.33 8679 chr12 121747517 121747517 C T rs111320099 ANAPC5 Synonymous SNV P569P 0.006 0.008 0.003 5 7 3 0.013 1 0 0 0 0 14.26 8680 chr11 66512290 66512290 - GGC rs71045961 C11orf80 A34_G35insA 0.524 0.508 0.337 191 615 195 0.49 99 166 47 27 51 8681 chr12 121882141 121882141 C G rs55671311 MIR7107 0.044 0.044 0.085 17 52 17 0.044 25 1 0 0 0 0.086 8682 chr2 68546449 68546449 G A rs13025842 CNRIP1 Nonsynonymous SNV T10M 0.332 0.326 0.139 148 390 125 0.379 41 77 26 11 26 15.69 8683 chr11 6662141 6662141 C T rs143767864 DCHS1 Nonsynonymous SNV R235Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Uncertain significance 21.5 8684 chr12 122064774 122064779 CCGCCA - rs141919534 ORAI1 P48_P49del 0.991 0.987 0.997 387 1164 379 0.992 293 577 187 146 192 8685 chr2 68592496 68592496 C T rs17035364 PLEK Nonsynonymous SNV R5W 0.014 0.023 0.044 8 17 9 0.021 13 0 1 1 0 34 8686 chr12 122186268 122186268 C T rs28651018 TMEM120B Synonymous SNV L75L 0.575 0.607 0.667 221 675 233 0.567 196 198 71 62 58 16.23 8687 chr11 6341365 6341365 C T rs11544764 CAVIN3 Synonymous SNV G114G 0.098 0.091 0.092 29 115 35 0.074 27 7 0 1 1 16.22 8688 chr12 122186317 122186317 G A rs28655666 TMEM120B Nonsynonymous SNV D92N 0.583 0.612 0.667 225 684 235 0.577 196 200 71 62 59 23.1 8689 chr2 68607947 68607947 G T rs3816281 PLEK Nonsynonymous SNV K97N 0.244 0.273 0.252 98 286 105 0.251 74 30 13 14 6 23.9 8690 chr11 61099072 61099072 G A rs2230356 DDB1 Synonymous SNV P51P 0.084 0.094 0.051 42 99 36 0.108 15 6 1 0 2 13.92 8691 chr12 122243905 122243905 C T rs1168666 SETD1B Synonymous SNV I146I 0.836 0.839 0.827 309 981 322 0.792 243 410 138 97 122 15.26 8692 chr2 68622914 68622914 G A rs1063479 PLEK Nonsynonymous SNV R340K 0.743 0.766 0.741 305 872 294 0.782 218 323 110 82 123 9.597 8693 chr12 122248582 122248582 C G rs895952 SETD1B Synonymous SNV L577L 0.851 0.844 0.84 313 999 324 0.803 247 424 140 101 125 0.053 8694 chr2 68753240 68753240 T A rs35002937 APLF Nonsynonymous SNV S224T 0.137 0.12 0.112 53 161 46 0.136 33 7 2 4 2 0.147 8695 chr12 122261456 122261456 G A rs3741593 SETD1B Synonymous SNV A1657A 0.593 0.581 0.626 226 696 223 0.579 184 206 61 61 61 1.868 8696 chr11 6554941 6554941 C A rs4282961 DNHD1 Nonsynonymous SNV L846M 0.314 0.307 0.296 136 369 118 0.349 87 57 16 11 28 24.7 8697 chr12 122295335 122295335 T C rs1154510 HPD Nonsynonymous SNV T33A 0.884 0.878 0.898 349 1038 337 0.895 264 457 146 121 155 Benign 1.004 8698 chr2 68765205 68765205 C T rs13404469 APLF Nonsynonymous SNV L336F 0.089 0.096 0.078 37 104 37 0.095 23 2 0 3 2 0.284 8699 chr11 65733992 65733992 C T rs201560941 SART1 Nonsynonymous SNV R385W 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 32 8700 chr12 122296608 122296608 A C rs35849100 HPD Nonsynonymous SNV S5R 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 Benign 1.676 8701 chr2 69049941 69049941 T C rs10177248 ARHGAP25 Nonsynonymous SNV M550T 0.439 0.445 0.412 174 515 171 0.446 121 112 39 23 43 0.033 8702 chr12 122326812 122326812 T C rs2230681 PSMD9 Nonsynonymous SNV V17A 0.882 0.87 0.891 347 1035 334 0.89 262 453 143 120 153 0.002 8703 chr11 6578004 6578004 G A rs11600179 DNHD1 Synonymous SNV T2493T 0.157 0.159 0.133 59 184 61 0.151 39 5 7 1 6 10.6 8704 chr2 42990101 42990101 G C rs2278586 OXER1 Nonsynonymous SNV L407V 0.218 0.164 0.207 79 256 63 0.203 61 34 6 4 6 11.33 8705 chr2 69300191 69300191 T C rs77687153 ANTXR1 Synonymous SNV D150D 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 4.441 8706 chr12 122353796 122353796 A G rs14259 PSMD9 Nonsynonymous SNV E92G 0.304 0.326 0.333 116 357 125 0.297 98 46 21 19 18 20.4 8707 chr2 69472476 69472476 G A rs147959058 ANTXR1 Synonymous SNV A518A 0.022 0.018 0.01 8 26 7 0.021 3 0 0 0 0 2.366 8708 chr11 63988045 63988045 G A rs3802932 FERMT3 Synonymous SNV P483P 0.041 0.049 0.034 16 48 19 0.041 10 1 0 0 0 1.598 8709 chr11 6579106 6579106 C A rs11040920 DNHD1 Nonsynonymous SNV H2861N 0.322 0.294 0.327 131 378 113 0.336 96 55 11 18 22 8.713 8710 chr11 65168281 65168281 C T rs2073801 FRMD8 Synonymous SNV F282F 0.105 0.117 0.119 62 123 45 0.159 35 4 1 1 6 14.88 8711 chr2 69659126 69659126 A T rs4453725 NFU1 Star tloss M25K 0.441 0.44 0.405 161 518 169 0.413 119 115 36 20 36 Benign 0.69 8712 chr12 122369762 122369762 C T rs7313748 WDR66 Synonymous SNV N286N 0.304 0.326 0.33 116 357 125 0.297 97 46 21 19 18 11.03 8713 chr2 42990522 42990522 C T rs12712859 OXER1 Synonymous SNV A266A 0.217 0.161 0.204 79 255 62 0.203 60 34 6 4 6 12.63 8714 chr11 65793454 65793454 C T rs1203998 CATSPER1 Nonsynonymous SNV G133S 0.236 0.206 0.262 89 277 79 0.228 77 35 9 14 11 Benign 2.637 8715 chr12 122396395 122396395 C T rs17852561 WDR66 Nonsynonymous SNV L650F 0.304 0.326 0.33 116 357 125 0.297 97 47 21 19 18 11.1 8716 chr2 69741609 69741609 C T rs2276689 AAK1 Synonymous SNV E590E 0.38 0.419 0.276 151 446 161 0.387 81 88 34 14 30 13.94 8717 chr2 43015704 43015704 T A rs3816182 HAAO Nonsynonymous SNV T42S 0.269 0.216 0.316 98 316 83 0.251 93 45 11 17 12 10.32 8718 chr2 69741754 69741756 TGT - rs3832159 AAK1 Q546del 0.385 0.422 0.333 152 452 162 0.39 98 88 34 15 30 8719 chr12 12240199 12240199 C T rs879732 BCL2L14 Synonymous SNV Y162Y 0.566 0.549 0.633 223 665 211 0.572 186 191 61 59 63 10.65 8720 chr2 69741854 69741854 T G rs6715776 AAK1 Nonsynonymous SNV K509Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.15 8721 chr12 122405912 122405912 G T rs1169081 WDR66 Nonsynonymous SNV V870L 0.304 0.323 0.337 116 357 124 0.297 99 47 21 19 18 19.27 8722 chr11 65793797 65793797 G A rs1893316 CATSPER1 Synonymous SNV N18N 0.204 0.169 0.245 75 239 65 0.192 72 26 4 12 8 Benign 3.171 8723 chr11 63884561 63884561 G A rs34856996 FLRT1 Synonymous SNV K274K 0.06 0.036 0.054 25 70 14 0.064 16 2 0 0 1 Benign 0.753 8724 chr11 67353579 67353579 C T rs1138272 GSTP1 Nonsynonymous SNV A114V 0.055 0.047 0.054 16 65 18 0.041 16 2 0 0 0 13.65 8725 chr2 70031691 70031691 G A rs370762736 ANXA4 Nonsynonymous SNV V42I 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 1.684 8726 chr12 12247616 12247616 T C rs11054683 BCL2L14 Synonymous SNV L233L 0.265 0.26 0.313 108 311 100 0.277 92 47 11 15 10 0.674 8727 chr11 65631998 65631998 C T rs144712177 MUS81 Nonsynonymous SNV R365W 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 23.9 8728 chr12 122497001 122497001 T C rs28629903 BCL7A Synonymous SNV L189L 0.436 0.456 0.469 188 512 175 0.482 138 129 48 32 50 5.513 8729 chr2 70033584 70033584 C T rs2228203 ANXA4 Nonsynonymous SNV T87M 0.124 0.104 0.126 35 145 40 0.09 37 12 2 1 0 7.507 8730 chr2 43452183 43452183 A G rs7933 ZFP36L2 Synonymous SNV L254L 0.43 0.456 0.432 173 505 175 0.444 127 109 37 26 38 0.484 8731 chr11 65820673 65820673 A G rs503156 SNORD13F 0.204 0.182 0.238 82 240 70 0.21 70 34 9 13 11 3.547 8732 chr12 122617989 122617989 A G rs7978353 MLXIP Nonsynonymous SNV E396G 0.371 0.383 0.405 166 436 147 0.426 119 82 26 20 31 0.178 8733 chr2 43519977 43519977 C T rs35720761 THADA Nonsynonymous SNV C1605Y 0.122 0.125 0.105 48 143 48 0.123 31 10 3 3 4 21.6 8734 chr11 65826704 65826704 G A rs1049872 SF3B2 Synonymous SNV K405K 0.198 0.164 0.245 74 232 63 0.19 72 25 4 12 8 15.91 8735 chr2 70162534 70162534 T G rs2228183 MXD1 Synonymous SNV L75L 0.372 0.359 0.408 132 437 138 0.338 120 75 32 20 22 9.227 8736 chr2 43732823 43732823 T C rs7578597 THADA Nonsynonymous SNV T1187A 0.098 0.107 0.109 37 115 41 0.095 32 7 1 3 2 23.5 8737 chr12 122618131 122618131 A G rs36045144 MLXIP Synonymous SNV P443P 0.118 0.128 0.109 52 139 49 0.133 32 8 0 1 2 4.161 8738 chr11 6585032 6585032 G A rs11604232 DNHD1 Nonsynonymous SNV R3321Q 0.026 0.026 0.024 10 31 10 0.026 7 0 0 0 0 6.003 8739 chr2 70188676 70188676 T C rs3796097 ASPRV1 Nonsynonymous SNV T49A 0.444 0.417 0.476 167 521 160 0.428 140 117 31 35 32 0.003 8740 chr12 122623000 122623000 T C rs4758686 MLXIP Synonymous SNV T762T 0.417 0.43 0.435 180 490 165 0.462 128 97 39 28 37 0.864 8741 chr2 43801712 43801712 A G rs11899823 THADA Synonymous SNV L498L 0.379 0.411 0.405 149 445 158 0.382 119 75 28 26 27 4.177 8742 chr11 6588228 6588228 G A rs10769699 DNHD1 Nonsynonymous SNV R3830H 0.336 0.315 0.333 138 394 121 0.354 98 60 16 17 23 14.97 8743 chr2 43804229 43804229 T C rs13021894 THADA Synonymous SNV G323G 0.386 0.417 0.412 150 453 160 0.385 121 78 28 26 27 1.219 8744 chr12 122658492 122658492 G A rs56719421 IL31 Synonymous SNV L22L 0.055 0.052 0.085 26 64 20 0.067 25 2 1 2 1 3.418 8745 chr2 70377653 70377653 G A rs12989348 C2orf42 Synonymous SNV I520I 0.084 0.073 0.048 22 99 28 0.056 14 3 1 0 0 12.63 8746 chr11 6411931 6411936 CTGGTG - rs775860642 SMPD1 V36_L37del 0.016 0.008 0 4 19 3 0.01 0 0 0 0 0 8747 chr12 122674780 122674780 C A rs11060094 LRRC43 Nonsynonymous SNV Q256K 0.194 0.214 0.218 67 228 82 0.172 64 17 8 5 8 29.1 8748 chr2 43805739 43805739 C T rs61754256 THADA Synonymous SNV L243L 0.13 0.128 0.136 47 153 49 0.121 40 13 3 7 4 13.91 8749 chr11 64051853 64051853 G A rs75052600 GPR137 Synonymous SNV V5V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 10.58 8750 chr2 70528827 70528827 G A rs2279159 FAM136A Nonsynonymous SNV P106L 0.231 0.221 0.231 78 271 85 0.2 68 34 9 8 6 9.544 8751 chr2 43819139 43819139 A G rs17031095 THADA Synonymous SNV H41H 0.124 0.122 0.126 46 146 47 0.118 37 12 3 7 4 2.686 8752 chr12 122689181 122689181 C G rs7136356 B3GNT4 Nonsynonymous SNV P6A 0.306 0.266 0.211 109 359 102 0.279 62 50 15 11 18 0.296 8753 chr2 71043461 71043461 C T rs722896 CLEC4F Nonsynonymous SNV R351H 0.348 0.336 0.388 122 408 129 0.313 114 57 25 23 25 8.923 8754 chr11 6568213 6568213 T C rs58186801 DNHD1 Nonsynonymous SNV M2015T 0.187 0.18 0.17 76 219 69 0.195 50 17 9 4 10 0.002 8755 chr12 122691738 122691738 C A rs4758675 B3GNT4 Synonymous SNV R289R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.58 8756 chr12 122812503 122812503 G C rs1129167 CLIP1 Nonsynonymous SNV D1034E 0.671 0.651 0.605 249 788 250 0.638 178 267 80 54 83 0.154 8757 chr2 71044211 71044211 C T rs2075221 CLEC4F Nonsynonymous SNV R101Q 0.369 0.362 0.398 131 433 139 0.336 117 64 32 25 28 2.424 8758 chr11 674638 674638 C T rs35303725 DEAF1 Synonymous SNV A378A 0.029 0.036 0.01 11 34 14 0.028 3 1 0 0 0 Benign 12.02 8759 chr12 12301898 12301898 C T rs2302685 LRP6 Nonsynonymous SNV V1062I 0.844 0.844 0.816 320 991 324 0.821 240 419 137 97 129 17.89 8760 chr2 43927459 43927459 C G rs12623703 PLEKHH2 Synonymous SNV A454A 0.161 0.185 0.194 67 189 71 0.172 57 21 4 2 4 10.85 8761 chr11 6568667 6568667 T C rs61729699 DNHD1 Synonymous SNV Y2166Y 0.034 0.049 0.007 19 40 19 0.049 2 1 1 0 0 0.001 8762 chr2 71058226 71058226 C T rs2080390 CD207 Synonymous SNV T314T 0.211 0.242 0.187 107 248 93 0.274 55 24 15 8 17 11.29 8763 chr12 12315228 12315228 C T rs368905025 LRP6 Synonymous SNV T726T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 8764 chr2 71058835 71058835 A G rs741326 CD207 Nonsynonymous SNV V278A 0.481 0.474 0.459 152 565 182 0.39 135 135 43 33 33 0.001 8765 chr11 6789294 6789294 G C rs7924459 OR2AG2 Nonsynonymous SNV R299G 0.078 0.07 0.078 36 92 27 0.092 23 3 0 2 2 0.01 8766 chr12 123333065 123333065 C T rs2135014 HIP1R Synonymous SNV Y70Y 0.859 0.88 0.878 331 1009 338 0.849 258 432 150 115 139 9.008 8767 chr2 44071743 44071743 A G rs4148211 ABCG8 Nonsynonymous SNV Y54C 0.314 0.271 0.299 122 369 104 0.313 88 64 11 13 21 Benign 23.8 8768 chr12 123345736 123345736 C G rs10847910 HIP1R Synonymous SNV T983T 0.928 0.943 0.935 363 1090 362 0.931 275 506 170 128 169 15.26 8769 chr2 71060111 71060111 G A rs17006436 CD207 Nonsynonymous SNV P213S 0.045 0.034 0.061 25 53 13 0.064 18 1 0 1 2 0.001 8770 chr11 66131149 66131149 C T rs1039594 LOC102724064 0.107 0.073 0.592 67 126 28 0.172 174 61 13 60 32 1.696 8771 chr11 66188761 66188761 G T rs77600363 NPAS4 Synonymous SNV L37L 0.17 0.128 0.143 54 199 49 0.138 42 16 4 2 4 8.631 8772 chr12 123645803 123645803 G A rs1051431 MPHOSPH9 Synonymous SNV Y1087Y 0.726 0.716 0.721 283 852 275 0.726 212 310 98 76 98 9.874 8773 chr2 71061108 71061108 G A rs17662453 CD207 Synonymous SNV V78V 0.177 0.216 0.184 84 208 83 0.215 54 17 13 6 9 6.257 8774 chr12 123664514 123664514 G A rs1727301 MPHOSPH9 Synonymous SNV N771N 0.427 0.396 0.337 152 501 152 0.39 99 94 37 21 24 9.565 8775 chr2 71062648 71062648 G A rs10489990 CD207 Nonsynonymous SNV A55V 0.335 0.372 0.327 131 393 143 0.336 96 63 27 11 20 21.3 8776 chr12 123799974 123799974 A G rs6488868 SBNO1 Synonymous SNV G1022G 0.727 0.716 0.711 279 853 275 0.715 209 311 97 76 99 5.847 8777 chr11 66240882 66240882 T C rs2277302 PELI3 Synonymous SNV D102D 0.177 0.148 0.16 61 208 57 0.156 47 19 6 2 5 1.056 8778 chr12 123810873 123810873 G A rs61388686 SBNO1 Synonymous SNV I567I 0.666 0.646 0.667 249 782 248 0.638 196 258 82 65 78 14.46 8779 chr11 66254085 66254085 G T rs11550299 DPP3 Nonsynonymous SNV Q115H 0.167 0.138 0.16 57 196 53 0.146 47 16 5 3 5 14.1 8780 chr12 124008073 124008073 A G rs2292500 RILPL1 Synonymous SNV N143N 0.894 0.878 0.891 339 1050 337 0.869 262 467 148 116 147 0.014 8781 chr2 71062833 71062833 - C rs11450450 CD207 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8782 chr2 44457647 44457647 T G PPM1B Synonymous SNV L123L 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 2.444 8783 chr12 124069213 124069213 T C rs786446 TMED2 Synonymous SNV L10L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.8 8784 chr2 71163173 71163173 C T rs17720303 ATP6V1B1 Nonsynonymous SNV T30I 0.23 0.232 0.211 84 270 89 0.215 62 29 11 7 9 Benign 22.7 8785 chr11 68030015 68030015 C T rs901827 C11orf24 Nonsynonymous SNV A150T 0.302 0.333 0.405 115 355 128 0.295 119 56 23 23 17 0.243 8786 chr12 124209332 124209332 T C rs1139789 ATP6V0A2 Synonymous SNV N142N 0.569 0.568 0.636 246 668 218 0.631 187 181 62 63 76 Benign 0.899 8787 chr12 124210782 124210782 T C rs1399961 ATP6V0A2 Synonymous SNV S157S 0.57 0.568 0.633 243 669 218 0.623 186 181 62 62 74 Benign 0.965 8788 chr2 71175645 71175645 G A rs11126312 ATP6V1B1-AS1 0.256 0.276 0.228 101 301 106 0.259 67 44 16 8 13 6.356 8789 chr11 66272237 66272237 G A rs2305535 DPP3 Nonsynonymous SNV R648H 0.168 0.143 0.156 57 197 55 0.146 46 17 5 3 5 22.1 8790 chr11 6412635 6412635 G A rs142215226 SMPD1 Nonsynonymous SNV V114M 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 Uncertain significance 16.67 8791 chr12 124229429 124229429 T C rs7135542 ATP6V0A2 Synonymous SNV N505N 0.573 0.565 0.643 243 673 217 0.623 189 184 61 65 74 Benign 0.05 8792 chr2 71190384 71190384 C T rs2072462 ATP6V1B1 Synonymous SNV R334R 0.508 0.49 0.524 189 596 188 0.485 154 152 46 39 44 Benign 16.51 8793 chr11 64575505 64575505 C T rs607969 MEN1 Nonsynonymous SNV R176Q 0.017 0.023 0.014 6 20 9 0.015 4 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 8794 chr12 124265687 124265687 T C rs11057353 DNAH10 Nonsynonymous SNV S228P 0.623 0.615 0.663 255 731 236 0.654 195 228 70 61 86 Benign 0.002 8795 chr2 71211989 71211989 A G rs3796099 ANKRD53 Synonymous SNV T384T 0.65 0.646 0.626 231 763 248 0.592 184 253 77 59 68 0.054 8796 chr11 66282095 66282095 G A rs2298806 BBS1 Synonymous SNV L126L 0.168 0.143 0.156 57 197 55 0.146 46 17 5 3 5 Benign 7.285 8797 chr2 47144394 47144394 C G rs76192704 TTC7A Synonymous SNV L20L 0.044 0.049 0.044 25 52 19 0.064 13 2 1 2 1 4.156 8798 chr2 71305456 71305456 C T rs6713 NAGK Synonymous SNV L234L 0.732 0.758 0.728 288 859 291 0.738 214 325 107 80 107 11.17 8799 chr12 124267703 124267703 T C rs11057355 DNAH10 Synonymous SNV S297S 0.606 0.635 0.68 257 712 244 0.659 200 222 74 69 85 Benign 0.76 8800 chr2 47233120 47233120 C T rs144037049 TTC7A Synonymous SNV S21S 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Likely benign 9.224 8801 chr11 66031660 66031660 C T rs1151539 KLC2 Synonymous SNV D285D 0.396 0.354 0.395 154 465 136 0.395 116 91 21 27 32 13.38 8802 chr12 124274474 124274474 A G rs10846559 DNAH10 Nonsynonymous SNV I541V 0.677 0.701 0.731 291 795 269 0.746 215 273 91 77 111 Benign 0.09 8803 chr2 71360144 71360144 A C rs10199088 MPHOSPH10 Nonsynonymous SNV E69A 0.284 0.276 0.259 125 333 106 0.321 76 51 18 7 16 1.937 8804 chr11 66297363 66297363 C T rs3816492 BBS1 Synonymous SNV L471L 0.167 0.143 0.153 57 196 55 0.146 45 17 5 3 5 Benign 19.49 8805 chr2 47380145 47380145 T C rs17036300 STPG4 Nonsynonymous SNV Q31R 0.081 0.083 0.075 31 95 32 0.079 22 3 2 2 0 0.111 8806 chr12 124325977 124325977 T G rs4930729 DNAH10 Nonsynonymous SNV L1631V 0.862 0.867 0.888 344 1012 333 0.882 261 433 143 116 152 Benign 0.001 8807 chr2 71360625 71360625 G T rs1813160 MPHOSPH10 Nonsynonymous SNV E229D 0.284 0.276 0.218 125 334 106 0.321 64 52 18 6 16 0.002 8808 chr12 124417889 124417889 C T rs4930721 DNAH10 Synonymous SNV S4318S 0.318 0.292 0.388 151 373 112 0.387 114 66 16 22 31 Benign 12.15 8809 chr11 66313203 66313203 T C rs2305534 ZDHHC24 Nonsynonymous SNV Q91R 0.174 0.146 0.153 59 204 56 0.151 45 18 5 3 5 9.071 8810 chr12 124427306 124427306 T A rs11057401 CCDC92 Nonsynonymous SNV S53C 0.314 0.289 0.388 147 369 111 0.377 114 65 16 22 30 26.6 8811 chr2 71365676 71365676 G A rs357756 MPHOSPH10 Synonymous SNV Q385Q 0.278 0.266 0.241 124 326 102 0.318 71 49 17 7 16 9.827 8812 chr2 48010488 48010488 G A rs1042821 MSH6 Nonsynonymous SNV G39E 0.209 0.227 0.248 69 245 87 0.177 73 34 15 10 10 Benign 0.281 8813 chr2 71366957 71366957 C A rs3732240 MPHOSPH10 Nonsynonymous SNV L425M 0.02 0.036 0.02 2 24 14 0.005 6 1 0 0 0 32 8814 chr12 124824721 124824721 - GCCGCTGCT rs143952466 NCOR2 G1829_G1830insSSG 0.999 1 0.976 389 1173 384 0.997 287 586 192 142 194 8815 chr11 68177510 68177510 C T rs2306862 LRP5 Synonymous SNV N159N 0.155 0.115 0.184 73 182 44 0.187 54 14 1 1 4 Benign 14.25 8816 chr11 66102968 66102968 C T rs780202584 RIN1 Nonsynonymous SNV D125N 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 31 8817 chr11 64662849 64662849 A G rs77802938 ATG2A Synonymous SNV D1823D 0.066 0.068 0.078 30 78 26 0.077 23 0 1 2 0 6.367 8818 chr12 124829234 124829234 C T rs1263992 NCOR2 Synonymous SNV L1531L 0.778 0.755 0.731 316 913 290 0.81 215 362 118 86 128 12.2 8819 chr11 64480926 64480926 C T rs12293481 NRXN2 Synonymous SNV L82L 0.016 0.01 0.007 3 19 4 0.008 2 0 0 0 0 Benign 10.55 8820 chr12 124829255 124829255 A G rs1244085 NCOR2 Synonymous SNV G1524G 0.767 0.753 0.711 305 901 289 0.782 209 348 115 81 120 5.836 8821 chr2 48023115 48023115 T C rs1800935 MSH6 Synonymous SNV D180D 0.307 0.294 0.279 100 360 113 0.256 82 61 13 12 7 Benign 2.682 8822 chr2 71376999 71376999 G A rs6574 MPHOSPH10 Nonsynonymous SNV E634K 0.281 0.268 0.255 123 330 103 0.315 75 49 17 7 16 34 8823 chr11 64665358 64665358 T G rs61742063 ATG2A Synonymous SNV G1641G 0.07 0.07 0.082 30 82 27 0.077 24 0 1 2 0 0.232 8824 chr12 12483275 12483275 G A rs1861676 MANSC1 Synonymous SNV L328L 0.797 0.786 0.765 308 936 302 0.79 225 373 123 86 123 2.311 8825 chr11 68201295 68201295 C T rs3736228 LRP5 Nonsynonymous SNV A749V 0.144 0.091 0.146 65 169 35 0.167 43 12 0 2 4 Benign 20.9 8826 chr2 48025764 48025764 C T rs1800937 MSH6 Synonymous SNV Y84Y 0.05 0.044 0.041 23 59 17 0.059 12 0 0 2 2 Benign 4.775 8827 chr11 64665394 64665394 T C rs61741079 ATG2A Synonymous SNV E1629E 0.071 0.07 0.082 30 83 27 0.077 24 0 1 2 0 0.029 8828 chr12 12483713 12483713 A G rs4763282 MANSC1 Synonymous SNV L182L 0.796 0.786 0.762 307 935 302 0.787 224 372 123 86 123 4.626 8829 chr2 71417065 71417065 G T rs357777 PAIP2B Synonymous SNV P75P 0.951 0.932 0.946 366 1117 358 0.938 278 530 167 131 171 9.783 8830 chr11 64503379 64503379 G T rs776791601 RASGRP2 Nonsynonymous SNV S390Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 8831 chr12 124856660 124856660 T A rs3741513 NCOR2 Synonymous SNV T887T 0.675 0.659 0.653 257 792 253 0.659 192 269 77 61 81 5.354 8832 chr12 124887058 124887058 - GCT rs372331070 NCOR2 Q509_P510insQ 0.606 0.591 0.255 230 711 227 0.59 75 200 62 27 59 8833 chr2 71417134 71417134 C T rs357776 PAIP2B Synonymous SNV Q52Q 0.282 0.289 0.231 92 331 111 0.236 68 41 18 7 11 13.1 8834 chr12 124957627 124957627 C T rs10846679 NCOR2 Synonymous SNV P154P 0.075 0.083 0.071 30 88 32 0.077 21 6 0 0 2 10.93 8835 chr11 64521406 64521406 G A rs71581787 PYGM Nonsynonymous SNV T307M 0.016 0.01 0.01 3 19 4 0.008 3 0 0 0 0 Benign 26.8 8836 chr2 71633275 71633275 T C rs3732233 ZNF638 Synonymous SNV I1006I 0.585 0.589 0.605 227 687 226 0.582 178 198 68 56 68 4.781 8837 chr11 66373305 66373305 G A rs1127145 CCS Synonymous SNV A268A 0.135 0.099 0.126 46 159 38 0.118 37 10 3 3 3 8.699 8838 chr11 64679331 64679331 G A rs60711419 ATG2A Nonsynonymous SNV A404V 0.058 0.063 0.082 28 68 24 0.072 24 0 1 2 0 18.51 8839 chr12 125284748 125284748 A G rs5888 SCARB1 Synonymous SNV A350A 0.524 0.547 0.497 189 615 210 0.485 146 167 54 39 46 4.555 8840 chr2 71633389 71633389 C T rs6714975 ZNF638 Synonymous SNV N1044N 0.585 0.589 0.599 230 687 226 0.59 176 198 68 56 69 11.17 8841 chr11 66392880 66392880 C T rs11550057 RBM14 Synonymous SNV T511T 0.135 0.099 0.119 46 158 38 0.118 35 10 3 3 3 8.528 8842 chr12 125396488 125396488 T C rs1071727 UBC Synonymous SNV Q610Q 0.807 0.839 0.806 312 947 322 0.8 237 385 136 97 122 Benign 0.009 8843 chr2 71780215 71780215 T C rs2303596 DYSF Synonymous SNV D595D 0.701 0.701 0.745 278 823 269 0.713 219 289 95 77 97 Benign 2.798 8844 chr11 64679362 64679362 G A rs35115827 ATG2A Nonsynonymous SNV R394C 0.058 0.063 0.085 28 68 24 0.072 25 0 1 2 0 22.2 8845 chr12 125397364 125397364 A G rs8963 UBC Synonymous SNV T318T 0.807 0.836 0.796 309 947 321 0.792 234 383 135 95 119 0.001 8846 chr2 71795152 71795152 A T rs2288355 DYSF Synonymous SNV S847S 0.612 0.609 0.633 223 718 234 0.572 186 226 72 56 61 Benign 2.312 8847 chr12 125397750 125397750 A G rs7137123 UBC Nonsynonymous SNV S190P 0.998 1 0.997 389 1172 384 0.997 293 586 192 146 194 3.745 8848 chr2 71827853 71827853 C T rs369170272 DYSF Nonsynonymous SNV R1228C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 28.8 8849 chr11 64577739 64577739 C T rs587777949 MEN1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 not provided 9.327 8850 chr12 125398039 125398039 G C rs1071862 UBC Synonymous SNV V93V 0.807 0.833 0.803 310 948 320 0.795 236 384 134 96 120 0.278 8851 chr2 71838597 71838597 C A rs2303606 DYSF Synonymous SNV I1322I 0.501 0.529 0.514 194 588 203 0.497 151 155 46 41 51 Benign 10.55 8852 chr11 64606177 64606177 C T rs653343 CDC42BPG Synonymous SNV G358G 0.07 0.068 0.071 48 82 26 0.123 21 4 2 1 2 5.512 8853 chr12 125434580 125434580 C T rs4447263 DHX37 Nonsynonymous SNV R1081Q 0.63 0.63 0.656 236 740 242 0.605 193 236 78 64 74 5.001 8854 chr11 64594212 64594212 T G rs61744174 CDC42BPG Nonsynonymous SNV S1482R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 8855 chr2 71906278 71906278 A C rs17718530 DYSF Synonymous SNV P1939P 0.221 0.211 0.201 80 259 81 0.205 59 21 10 3 10 Benign/Likely benign 0.99 8856 chr12 125437019 125437019 T C rs4429156 DHX37 Synonymous SNV A931A 0.627 0.63 0.656 236 736 242 0.605 193 235 78 64 73 1.65 8857 chr2 72707874 72707874 A G rs653220 EXOC6B Synonymous SNV V444V 0.226 0.242 0.19 83 265 93 0.213 56 34 7 9 7 6.601 8858 chr12 125437064 125437064 C A rs34950844 DHX37 Synonymous SNV P916P 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 Benign 20.5 8859 chr2 72958333 72958333 T C rs61736520 EXOC6B Synonymous SNV Q10Q 0.117 0.138 0.095 44 137 53 0.113 28 7 4 0 2 0.053 8860 chr12 125438516 125438516 T C rs4516060 DHX37 Nonsynonymous SNV S869G 0.628 0.63 0.66 236 737 242 0.605 194 234 78 65 73 3.606 8861 chr2 73339708 73339708 G A rs1864488 RAB11FIP5 Synonymous SNV C66C 0.742 0.727 0.769 300 871 279 0.769 226 322 106 89 113 5.406 8862 chr12 125438523 125438523 C T rs4258464 DHX37 Synonymous SNV E866E 0.628 0.63 0.66 235 737 242 0.603 194 234 78 65 72 9.208 8863 chr2 73429808 73429808 G C rs1864492 NOTO Nonsynonymous SNV R5T 0.229 0.242 0.194 101 269 93 0.259 57 49 11 10 11 1.128 8864 chr12 125441347 125441347 T C rs12300199 DHX37 Synonymous SNV A781A 0.043 0.073 0.082 18 51 28 0.046 24 1 2 1 0 3.181 8865 chr12 125441359 125441359 T C rs10773127 DHX37 Synonymous SNV T777T 0.22 0.273 0.238 88 258 105 0.226 70 29 13 11 8 0.103 8866 chr2 73478461 73478461 A T rs7851 CCT7 Synonymous SNV A233A 0.331 0.362 0.289 134 389 139 0.344 85 70 24 14 21 1.184 8867 chr12 125448960 125448960 C T rs4076777 DHX37 Synonymous SNV T675T 0.326 0.333 0.293 119 383 128 0.305 86 74 22 9 18 16.44 8868 chr2 73490412 73490412 A G rs34363861 FBXO41 Synonymous SNV H700H 0.464 0.479 0.429 179 545 184 0.459 126 134 48 31 43 0.534 8869 chr11 6477349 6477349 T A TRIM3 Nonsynonymous SNV S377C 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 8870 chr11 64662607 64662607 G A rs61745430 ATG2A Synonymous SNV A1877A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.824 8871 chr12 125626685 125626685 C T rs3751180 AACS Nonsynonymous SNV R576C 0.024 0.016 0.027 9 28 6 0.023 8 0 0 0 0 12.03 8872 chr2 73491514 73491514 C T rs61735876 FBXO41 Synonymous SNV T566T 0.07 0.068 0.037 26 82 26 0.067 11 4 1 0 1 8.133 8873 chr12 125834095 125834095 C A rs1491893 TMEM132B Synonymous SNV S55S 0.306 0.245 0.337 107 359 94 0.274 99 49 9 14 16 10.16 8874 chr2 73613032 73613049 GGAGGAGGAGGAGGAGGA - rs878854999 ALMS1 E23_E28del 0 0 0 0 0 0 0 0 0 0 0 0 8875 chr11 6898663 6898663 G A rs10839635 OR10A4 Nonsynonymous SNV R262Q 0.255 0.24 0.221 103 299 92 0.264 65 41 11 10 17 20.5 8876 chr2 73613049 73613049 - GGA ALMS1 E28_A29insE 0 0 0 0 0 0 0 0 0 0 0 0 8877 chr2 73675227 73675227 - CTC rs34628045 ALMS1 S524_L525insP 0.622 0.633 0.718 263 730 243 0.674 211 226 74 80 90 8878 chr12 125834395 125834395 T C rs3803155 TMEM132B Synonymous SNV S155S 0.739 0.711 0.786 257 868 273 0.659 231 319 92 94 79 0.032 8879 chr2 49189921 49189921 C T rs6166 FSHR Nonsynonymous SNV S654N 0.487 0.497 0.486 197 572 191 0.505 143 138 52 37 49 Benign 2.784 8880 chr2 73675669 73675669 T G rs2037814 ALMS1 Nonsynonymous SNV V671G 0.846 0.875 0.884 336 993 336 0.862 260 421 147 118 147 Benign 0.662 8881 chr12 125900095 125900095 T A rs3809261 TMEM132B Synonymous SNV G326G 0.134 0.099 0.122 46 157 38 0.118 36 11 3 2 1 8.376 8882 chr11 64665444 64665444 G A rs61740228 ATG2A Nonsynonymous SNV R1613C 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 14.36 8883 chr12 126068417 126068417 T C rs6489006 TMEM132B Synonymous SNV T438T 0.939 0.927 0.925 367 1102 356 0.941 272 515 168 127 174 0.062 8884 chr12 126137060 126137060 C T rs16919359 TMEM132B Nonsynonymous SNV A170V 0.182 0.232 0.17 78 214 89 0.2 50 18 12 3 8 Benign 23.2 8885 chr2 49191041 49191041 C T rs6165 FSHR Nonsynonymous SNV A281T 0.474 0.484 0.469 190 556 186 0.487 138 133 50 36 44 Benign 8.174 8886 chr2 73675844 73675844 C T rs7598901 ALMS1 Synonymous SNV F729F 0.614 0.63 0.707 259 721 242 0.664 208 223 73 77 87 Benign 11.47 8887 chr11 64675074 64675074 G A rs61741398 ATG2A Nonsynonymous SNV A857V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.42 8888 chr2 73957124 73957124 A G rs7210 TPRKB Synonymous SNV I158I 0.642 0.672 0.51 276 754 258 0.708 150 247 87 66 97 7.863 8889 chr12 12630346 12630346 G A rs12815760 DUSP16 Synonymous SNV T473T 0.074 0.081 0.122 37 87 31 0.095 36 5 1 3 1 3.725 8890 chr2 74007136 74007136 T C rs2272051 DUSP11 Nonsynonymous SNV D36G 0.643 0.672 0.738 274 755 258 0.703 217 251 87 84 96 1.249 8891 chr12 126950302 126950302 G A rs10847164 LINC02347 0 0 0.088 0 0 0 0 26 0 0 1 0 4.882 8892 chr11 64677270 64677270 C T rs61746812 ATG2A Nonsynonymous SNV V664M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 29.7 8893 chr12 127229327 127229327 T A rs10773323 LINC00943 0 0 0.435 0 0 0 0 128 0 0 26 0 7.594 8894 chr12 12814738 12814738 G A rs4763861 GPR19 Synonymous SNV P215P 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 3.638 8895 chr2 53955850 53955850 C T rs17521008 ASB3, GPR75-ASB3 Synonymous SNV S128S 0.196 0.156 0.228 89 230 60 0.228 67 21 4 8 10 0.883 8896 chr12 12814818 12814818 C T rs4763862 GPR19 Nonsynonymous SNV V189I 0.908 0.893 0.918 362 1066 343 0.928 270 482 154 125 167 0.002 8897 chr2 74135898 74135898 A G rs756128 ACTG2 Synonymous SNV E75E 0.636 0.599 0.643 243 747 230 0.623 189 228 64 62 75 Benign 6.555 8898 chr2 54035447 54035447 A G rs1127362 ERLEC1 Synonymous SNV Q297Q 0.201 0.154 0.235 89 236 59 0.228 69 21 4 9 10 3.133 8899 chr2 74300717 74300717 T C rs7560668 TET3 Synonymous SNV L753L 0.298 0.297 0.344 104 350 114 0.267 101 55 18 14 17 2.688 8900 chr11 64811900 64811900 C T rs193165731 SAC3D1 Nonsynonymous SNV R260C 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 23.8 8901 chr12 12814822 12814822 C T rs61745296 GPR19 Synonymous SNV S187S 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 7.045 8902 chr11 64681360 64681360 C T rs12293826 ATG2A Nonsynonymous SNV V175I 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 15.65 8903 chr11 64981871 64981871 G C rs61742578 SLC22A20P 0.052 0.055 0.051 28 61 21 0.072 15 2 0 1 2 8.737 8904 chr2 74327798 74327798 G A rs199849765 TET3 Nonsynonymous SNV V1202I 0 0 0.007 5 0 0 0.013 2 0 0 0 1 14.24 8905 chr12 128778703 128778703 G A rs1683709 MIR3612 0 0 0.204 0 0 0 0 60 0 0 6 0 2.681 8906 chr11 66472775 66472775 G A rs199968321 SPTBN2 Nonsynonymous SNV R658W 0.006 0.016 0 1 7 6 0.003 0 0 0 0 0 Benign/Likely benign 34 8907 chr12 128899673 128899673 A G rs11059681 TMEM132C Nonsynonymous SNV H161R 0.434 0.422 0.473 158 509 162 0.405 139 122 35 32 25 0.001 8908 chr11 64714908 64714908 A G rs75184517 MAJIN Synonymous SNV A59A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 8909 chr2 74725144 74725144 T C rs6546908 LBX2 Synonymous SNV E165E 0.928 0.909 0.912 365 1090 349 0.936 268 506 157 122 171 0.126 8910 chr11 65064690 65064690 G A rs487989 POLA2 Nonsynonymous SNV G583R 0.127 0.104 0.156 59 149 40 0.151 46 8 1 6 6 12.49 8911 chr12 128900005 128900005 G A rs1683723 TMEM132C Nonsynonymous SNV V272I 0.501 0.51 0.442 210 588 196 0.538 130 155 49 27 51 6.362 8912 chr2 75099477 75099477 A T rs2229621 HK2 Nonsynonymous SNV Q142H 0.205 0.224 0.221 77 241 86 0.197 65 18 11 4 8 2.09 8913 chr11 65124408 65124408 A G rs61732319 TIGD3 Nonsynonymous SNV T377A 0.06 0.057 0.061 31 70 22 0.079 18 5 0 1 2 0.003 8914 chr12 129181810 129181810 A G rs885546 TMEM132C Synonymous SNV T657T 0.951 0.979 0.942 371 1117 376 0.951 277 532 184 130 176 0.013 8915 chr2 75101454 75101454 T C rs2229622 HK2 Synonymous SNV D251D 0.212 0.224 0.235 77 249 86 0.197 69 23 12 4 8 0.14 8916 chr12 129181834 129181834 A G rs902060 TMEM132C Synonymous SNV V665V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.747 8917 chr12 129189941 129189941 G A rs12424159 TMEM132C Nonsynonymous SNV G810R 0.578 0.568 0.595 243 679 218 0.623 175 195 60 56 70 2.815 8918 chr2 75113657 75113657 C T rs2229626 HK2 Synonymous SNV N692N 0.538 0.508 0.524 197 632 195 0.505 154 179 50 40 47 16.99 8919 chr2 54482704 54482709 GGGCCC - rs76397255 TSPYL6 G194_P195del 0.106 0.112 0.126 60 125 43 0.154 37 7 3 2 7 8920 chr2 75113789 75113789 C G rs2229627 HK2 Synonymous SNV P736P 0.727 0.714 0.728 267 853 274 0.685 214 313 96 77 94 14.89 8921 chr12 129190021 129190021 A G rs11059841 TMEM132C Synonymous SNV Q836Q 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.001 8922 chr2 75115108 75115108 A G rs10194657 HK2 Synonymous SNV L766L 0.693 0.63 0.687 256 813 242 0.656 202 288 74 71 85 9.372 8923 chr12 129190474 129190474 G A rs3812792 TMEM132C Synonymous SNV A987A 0.589 0.581 0.599 246 691 223 0.631 176 204 62 56 73 1.216 8924 chr12 129278864 129278864 A G rs1059312 SLC15A4 Synonymous SNV F537F 0.431 0.378 0.408 159 506 145 0.408 120 106 20 21 34 0.009 8925 chr11 6662745 6662745 - CAG rs376287018 DCHS1 L33_G34insL 0.131 0.13 0.092 66 154 50 0.169 27 10 2 0 4 8926 chr2 75185856 75185856 G T rs12366 POLE4 Nonsynonymous SNV G17V 0.424 0.464 0.493 174 498 178 0.446 145 105 43 42 40 23.3 8927 chr12 129293346 129293346 C T rs11059924 SLC15A4 Synonymous SNV S415S 0.446 0.487 0.466 188 524 187 0.482 137 116 46 32 50 16.69 8928 chr2 54482989 54482989 C T rs6740641 TSPYL6 Synonymous SNV A100A 0.106 0.109 0.116 60 124 42 0.154 34 7 3 2 7 13.61 8929 chr12 129299385 129299385 G A rs10847697 SLC15A4 Synonymous SNV D259D 0.113 0.081 0.126 34 133 31 0.087 37 7 1 2 1 4.009 8930 chr2 54494448 54494448 G A rs1817557 ACYP2 Synonymous SNV P67P 0.108 0.107 0.146 58 127 41 0.149 43 13 5 4 9 0.767 8931 chr2 75425728 75425728 A G rs6715729 TACR1 Synonymous SNV F111F 0.479 0.458 0.524 177 562 176 0.454 154 142 37 44 37 4.208 8932 chr12 129559557 129559557 C T rs10773594 TMEM132D Synonymous SNV T721T 0.721 0.729 0.748 265 846 280 0.679 220 311 104 85 85 13.66 8933 chr11 69589556 69589556 G A rs11600280 FGF4 Synonymous SNV L99L 0.106 0.091 0.095 49 124 35 0.126 28 5 1 3 6 11.28 8934 chr11 65835675 65835675 G A rs112398687 SF3B2 Synonymous SNV A829A 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 13.9 8935 chr2 75882399 75882399 G A rs17689863 MRPL19 Synonymous SNV S289S 0.205 0.182 0.126 83 241 70 0.213 37 36 5 1 8 7.618 8936 chr12 12967127 12967127 C T rs1051374 DDX47 Synonymous SNV I50I 0.276 0.253 0.252 78 324 97 0.2 74 39 14 8 6 17.56 8937 chr12 13028653 13028653 A G rs10845659 RPL13AP20 0 0 0.871 0 0 0 0 256 0 0 111 0 4.396 8938 chr11 62997041 62997041 G C SLC22A25 Nonsynonymous SNV N28K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 8939 chr2 75915035 75915035 C T rs1803196 GCFC2 Synonymous SNV V367V 0.347 0.31 0.31 137 407 119 0.351 91 78 14 12 30 4.582 8940 chr12 13028696 13028696 G A rs11055120 RPL13AP20 0 0 0.116 0 0 0 0 34 0 0 1 0 6.782 8941 chr12 130521234 130521234 - AAA rs34472041 LINC02418 0 0 0.731 0 0 0 0 215 0 0 88 0 8942 chr2 75923413 75923413 T C rs7560262 GCFC2 Nonsynonymous SNV N80S 0.442 0.448 0.405 187 519 172 0.479 119 125 37 26 46 0.001 8943 chr12 130521306 130521306 G C rs600949 LINC02418 0 0 0.803 0 0 0 0 236 0 0 95 0 4.981 8944 chr12 13061294 13061294 C T rs2075288 GPRC5A Synonymous SNV A37A 0.306 0.315 0.306 116 359 121 0.297 90 65 19 13 15 12.91 8945 chr2 54858439 54858439 C T rs1804472 SPTBN1 Synonymous SNV I1072I 0.031 0.026 0.027 11 36 10 0.028 8 1 0 0 1 15.07 8946 chr12 130647709 130647709 G C rs10848026 FZD10 Synonymous SNV L74L 0.129 0.104 0.133 58 151 40 0.149 39 11 1 3 9 2.88 8947 chr2 79254261 79254261 T C rs452267 REG3G Synonymous SNV Y99Y 0.765 0.807 0.748 293 898 310 0.751 220 339 124 81 112 0.002 8948 chr2 54870254 54870254 C A rs144815582 SPTBN1 Nonsynonymous SNV D1318E 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 18.21 8949 chr2 84756049 84756049 G A rs4832089 DNAH6 Nonsynonymous SNV V141M 0.943 0.945 0.952 375 1107 363 0.962 280 521 172 133 181 Benign 0.02 8950 chr12 130839165 130839165 G A rs10848087 PIWIL1 Synonymous SNV L376L 0.179 0.188 0.201 63 210 72 0.162 59 18 5 8 4 9.837 8951 chr12 130884347 130884347 A G rs756186 RIMBP2 Synonymous SNV N1003N 0.329 0.359 0.313 137 386 138 0.351 92 54 25 14 27 6.498 8952 chr2 54882291 54882291 C A rs17344343 SPTBN1 Synonymous SNV T1956T 0.031 0.026 0.031 11 36 10 0.028 9 1 0 0 1 20.5 8953 chr12 130912757 130912757 C T rs2277356 RIMBP2 Synonymous SNV R776R 0.166 0.122 0.116 72 195 47 0.185 34 14 3 2 6 11.87 8954 chr11 70185325 70185325 C T rs1061328 PPFIA1 Synonymous SNV D540D 0.125 0.112 0.122 45 147 43 0.115 36 7 3 4 3 10.6 8955 chr2 84771480 84771480 G A rs1037863 DNAH6 Synonymous SNV L262L 0.943 0.945 0.949 375 1107 363 0.962 279 521 172 132 181 Benign 7.558 8956 chr11 64884599 64884599 G A rs35983251 ZNHIT2 Nonsynonymous SNV A176V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.587 8957 chr12 130921471 130921471 T C rs2292663 RIMBP2 Synonymous SNV P657P 0.105 0.112 0.143 41 123 43 0.105 42 8 2 6 5 0.066 8958 chr11 65348725 65348725 G A rs79021529 EHBP1L1 Synonymous SNV V249V 0.056 0.044 0.065 27 66 17 0.069 19 0 0 0 0 12.2 8959 chr2 84771567 84771567 C T rs1542477 DNAH6 Synonymous SNV S291S 0.9 0.896 0.901 369 1057 344 0.946 265 485 161 122 175 Benign 12.74 8960 chr11 70200529 70200529 C T rs17853270 PPFIA1 Synonymous SNV V762V 0.123 0.112 0.119 46 144 43 0.118 35 7 3 4 3 14.14 8961 chr11 6806989 6806989 T C rs200606130 OR2AG1 Nonsynonymous SNV C241R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.1 8962 chr12 13102605 13102605 G A rs4630382 GPRC5D Synonymous SNV D238D 0.355 0.344 0.272 142 417 132 0.364 80 68 26 12 22 0.219 8963 chr11 64898628 64898628 G T rs755610828 SYVN1 Synonymous SNV R267R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.12 8964 chr12 131276448 131276448 G T rs4759786 STX2 Nonsynonymous SNV P267H 0.999 1 0.993 388 1173 384 0.995 292 586 192 145 193 13.15 8965 chr2 84800605 84800605 C A rs11891970 DNAH6 Synonymous SNV A606A 0.941 0.943 0.949 375 1105 362 0.962 279 519 172 132 181 Benign 14.69 8966 chr12 131306314 131306314 C G rs17564 STX2 Nonsynonymous SNV S42T 0.658 0.609 0.588 264 773 234 0.677 173 256 74 53 85 0.039 8967 chr2 84846930 84846930 A G rs61743118 DNAH6 Nonsynonymous SNV M1232V 0.013 0.008 0.003 5 15 3 0.013 1 1 0 0 0 0.006 8968 chr11 7022038 7022038 A G rs12575236 ZNF214 Synonymous SNV F292F 0.229 0.255 0.204 84 269 98 0.215 60 27 12 7 8 2.214 8969 chr11 65349274 65349274 G A rs201609538 EHBP1L1 Synonymous SNV K377K 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 3.322 8970 chr12 13136623 13136623 T C rs735689 GPRC5D-AS1 0.555 0.56 0.558 219 652 215 0.562 164 174 60 49 52 2.33 8971 chr2 55436934 55436934 G A rs9677948 CLHC1 Nonsynonymous SNV A38V 0.244 0.237 0.248 87 286 91 0.223 73 39 11 11 7 22.7 8972 chr2 84880695 84880695 G A rs12992282 DNAH6 Synonymous SNV G1777G 0.069 0.089 0.085 27 81 34 0.069 25 2 4 1 2 1.765 8973 chr12 131466562 131466562 T C rs4759534 ADGRD1 Synonymous SNV Y148Y 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.015 8974 chr2 84897517 84897517 A G rs1881095 DNAH6 Synonymous SNV L2124L 0.94 0.945 0.956 375 1103 363 0.962 281 522 172 135 181 Benign 7.446 8975 chr12 13153388 13153388 - GCAGCAGTCCAGCAGTGCAGCAGT rs147879664 HTR7P1 0 0 0.279 0 0 0 0 82 0 0 30 0 8976 chr12 13153773 13153773 T C rs1291364 HTR7P1 0 0 0.531 0 0 0 0 156 0 0 63 0 2.944 8977 chr12 13154077 13154077 C T rs67498669 HTR7P1 0 0 0.374 0 0 0 0 110 0 0 35 0 10.18 8978 chr2 85549868 85549868 A G rs4240199 TGOLN2 X455Q 0.648 0.656 0.694 246 761 252 0.631 204 245 78 76 83 12.11 8979 chr2 55449412 55449412 C A rs74785222 CLHC1 Nonsynonymous SNV A46S 0.041 0.034 0.037 10 48 13 0.026 11 0 0 0 0 24.3 8980 chr12 13154583 13154583 G - rs398076428 HTR7P1 0 0 0.551 0 0 0 0 162 0 0 47 0 8981 chr12 13154790 13154790 G C rs1291363 HTR7P1 0 0 0.554 0 0 0 0 163 0 0 47 0 11.09 8982 chr11 66358274 66358274 A C rs62000969 CCDC87 Nonsynonymous SNV L738R 0.022 0.031 0.02 15 26 12 0.038 6 0 0 0 1 25 8983 chr12 13154911 13154911 A G rs1291362 HTR7P1 0 0 0.558 0 0 0 0 164 0 0 47 0 8.068 8984 chr2 85553784 85553784 C T rs1044973 TGOLN2 Synonymous SNV G357G 0.593 0.583 0.667 215 696 224 0.551 196 204 65 70 64 11.96 8985 chr2 55449464 55449464 T C rs17852670 CLHC1 Synonymous SNV Q28Q 0.246 0.237 0.214 103 289 91 0.264 63 35 14 7 13 1.303 8986 chr12 131620588 131620588 A G rs868158 ADGRD1 Synonymous SNV T758T 0.907 0.917 0.918 359 1065 352 0.921 270 483 163 124 164 0.002 8987 chr11 68509835 68509835 A G rs35773957 TESMIN Nonsynonymous SNV V260A 0.014 0.005 0.01 1 17 2 0.003 3 0 0 0 0 23.6 8988 chr2 85554080 85554080 G A rs4247303 TGOLN2 Nonsynonymous SNV R259W 0.551 0.531 0.575 197 647 204 0.505 169 173 49 51 53 22.7 8989 chr12 131622735 131622735 T C rs7302341 ADGRD1 Synonymous SNV S830S 0.601 0.633 0.616 205 705 243 0.526 181 217 81 60 53 0.041 8990 chr11 70253475 70253475 C T rs2298397 CTTN Synonymous SNV T24T 0.239 0.24 0.231 104 280 92 0.267 68 30 10 10 8 15.04 8991 chr11 65347922 65347922 G A rs78852393 EHBP1L1 Synonymous SNV P202P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.513 8992 chr12 13214537 13214537 A G rs3741818 FAM234B Synonymous SNV V187V 0.832 0.852 0.813 313 977 327 0.803 239 407 138 94 124 9.855 8993 chr2 85622059 85622059 T C rs6886 CAPG Nonsynonymous SNV H304R 0.57 0.555 0.544 214 669 213 0.549 160 199 57 43 54 13.05 8994 chr11 704583 704583 A G rs10902201 TMEM80 Synonymous SNV T263T 0.53 0.555 0.395 210 622 213 0.538 116 166 57 29 61 0.094 8995 chr11 65398063 65398063 C T PCNX3 Synonymous SNV T1486T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.57 8996 chr12 13221606 13221606 T C rs1386005 FAM234B Synonymous SNV D443D 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 1.096 8997 chr11 654043 654043 G A rs10902188 DEAF1 Synonymous SNV C429C 0.062 0.076 0.071 28 73 29 0.072 21 3 2 1 0 Benign 11.31 8998 chr11 704605 704605 A - rs35782494 TMEM80 T271Pfs*4 0.531 0.555 0.398 210 623 213 0.538 117 167 57 29 61 8999 chr12 132237750 132237750 C T rs1051219 SFSWAP Synonymous SNV D388D 0.248 0.24 0.245 95 291 92 0.244 72 40 6 11 14 12.32 9000 chr2 85769711 85769711 C G rs1078004 MAT2A Synonymous SNV R264R 0.492 0.477 0.381 188 578 183 0.482 112 140 43 22 46 Benign 7 9001 chr12 132237848 132237848 T C rs1982528 SFSWAP Nonsynonymous SNV L421P 0.957 0.977 0.963 374 1124 375 0.959 283 538 183 136 179 11.79 9002 chr2 85780107 85780107 G A rs10179904 GGCX Synonymous SNV T357T 0.119 0.128 0.095 54 140 49 0.138 28 14 4 0 6 Benign 9.238 9003 chr12 132271113 132271113 T C rs7136643 SFSWAP Synonymous SNV S838S 0.998 1 0.98 389 1172 384 0.997 288 585 192 143 194 9.958 9004 chr2 85780131 85780131 G A rs2592551 GGCX Synonymous SNV R349R 0.294 0.284 0.221 107 345 109 0.274 65 48 16 10 17 Benign 10.19 9005 chr12 132325239 132325239 G A rs6598163 MMP17 Nonsynonymous SNV A182T 0.459 0.458 0.476 186 539 176 0.477 140 124 34 31 47 0.493 9006 chr2 85780536 85780536 C T rs699664 GGCX Nonsynonymous SNV R268Q 0.351 0.333 0.276 127 412 128 0.326 81 73 19 14 23 Benign 0.94 9007 chr2 55806912 55806912 G A rs35232864 PPP4R3B Synonymous SNV T457T 0.032 0.023 0.044 19 37 9 0.049 13 1 1 0 1 14.16 9008 chr12 132335592 132335592 G A rs11835665 MMP17 Nonsynonymous SNV D529N 0.189 0.19 0.177 70 222 73 0.179 52 15 6 8 6 12 9009 chr2 85781318 85781318 T G rs1254896 GGCX Synonymous SNV G222G 0.989 0.984 0.983 383 1161 378 0.982 289 574 186 142 188 10.32 9010 chr11 6662466 6662466 C T rs112402535 DCHS1 Nonsynonymous SNV V127I 0.005 0.005 0.014 0 6 2 0 4 0 0 0 0 Benign/Likely benign 12.01 9011 chr11 68777323 68777323 T C rs11544721 MRGPRF Nonsynonymous SNV K16R 0.244 0.247 0.197 86 287 95 0.221 58 65 24 10 13 20.4 9012 chr2 85806266 85806266 C T rs3731828 VAMP8 Synonymous SNV N46N 0.29 0.284 0.214 105 341 109 0.269 63 49 16 9 17 13.5 9013 chr12 132396603 132396603 C T rs11616018 ULK1 Synonymous SNV D355D 0.832 0.836 0.83 319 977 321 0.818 244 406 133 100 130 17.25 9014 chr12 132401566 132401566 C T rs11546871 ULK1 Nonsynonymous SNV P714L 0.332 0.336 0.367 128 390 129 0.328 108 70 22 19 22 13.74 9015 chr2 85808737 85808737 A G rs1009 VAMP8 Synonymous SNV R67R 0.432 0.432 0.333 166 507 166 0.426 98 110 38 17 36 9.965 9016 chr11 66631347 66631347 G A rs141324828 PC Synonymous SNV Y422Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 8.366 9017 chr2 85818886 85818886 C T rs14976 VAMP5 Synonymous SNV N14N 0.28 0.299 0.201 108 329 115 0.277 59 44 16 5 17 16.04 9018 chr12 132403161 132403161 A G rs11609348 ULK1 Nonsynonymous SNV T816A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 9019 chr2 85824251 85824251 T C rs6643 RNF181 Nonsynonymous SNV Y118H 0.021 0.016 0.02 11 25 6 0.028 6 1 0 0 1 13 9020 chr2 56420006 56420006 A T rs60028731 CCDC85A Nonsynonymous SNV H224L 0.087 0.099 0.075 39 102 38 0.1 22 7 3 0 2 26.2 9021 chr12 132466835 132466835 C A rs145263930 EP400 Nonsynonymous SNV P581T 0.019 0.039 0.017 12 22 15 0.031 5 1 0 0 1 Benign 10.24 9022 chr2 85826721 85826721 G A rs11891495 TMEM150A Synonymous SNV T167T 0.248 0.268 0.207 89 291 103 0.228 61 32 13 6 14 10.24 9023 chr2 56420296 56420296 C T rs75743618 CCDC85A Nonsynonymous SNV R321W 0.087 0.099 0.071 39 102 38 0.1 21 7 3 0 2 31 9024 chr12 132466836 132466836 C T rs148078602 EP400 Nonsynonymous SNV P581L 0.019 0.039 0.017 12 22 15 0.031 5 1 0 0 1 Benign 21.5 9025 chr2 85890800 85890800 G A rs3024810 SFTPB Synonymous SNV D281D 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Benign 0.06 9026 chr11 65547738 65547738 T C rs151152949 AP5B1 Nonsynonymous SNV T76A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.002 9027 chr11 65418048 65418048 G A rs76089059 SIPA1 Synonymous SNV A997A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.01 9028 chr11 71155161 71155161 C T rs143999854 DHCR7 Nonsynonymous SNV A67T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 9029 chr2 85922121 85922121 - A rs113717357 GNLY 0.101 0.091 0.112 37 118 35 0.095 33 7 2 2 2 9030 chr12 132497581 132497581 G A rs117348148 EP400 Nonsynonymous SNV V1157I 0.007 0.026 0.007 4 8 10 0.01 2 0 0 0 0 Likely benign 17.37 9031 chr2 85981761 85981761 T C rs17851881 ATOH8 Nonsynonymous SNV L150P 0.653 0.685 0.643 255 767 263 0.654 189 249 90 59 85 24.1 9032 chr11 68851466 68851466 G T rs896973 TPCN2 Synonymous SNV A581A 0.45 0.503 0.269 175 528 193 0.449 79 106 41 26 42 11.02 9033 chr12 132502202 132502202 C T rs541165241 EP400 Nonsynonymous SNV A1349V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 9034 chr2 85981797 85981797 G A rs75293225 ATOH8 Nonsynonymous SNV R162H 0.016 0.023 0.024 11 19 9 0.028 7 0 0 0 0 27.9 9035 chr12 132508389 132508389 A G rs7133119 EP400 Synonymous SNV P1586P 0.174 0.193 0.15 83 204 74 0.213 44 12 9 4 9 0.089 9036 chr12 132547093 132547093 A G rs10902490 EP400 Synonymous SNV Q2727Q 0.049 0.07 0.027 19 57 27 0.049 8 4 2 0 1 Likely benign 0.142 9037 chr12 132562126 132562126 G A rs73164912 EP400 Nonsynonymous SNV A3094T 0.131 0.159 0.146 56 154 61 0.144 43 16 6 4 7 20.8 9038 chr2 86315741 86315741 C T rs2288120 POLR1A Synonymous SNV T226T 0.843 0.81 0.799 340 990 311 0.872 235 422 126 97 147 19.8 9039 chr2 86317037 86317037 G C rs4832242 POLR1A Nonsynonymous SNV P150A 0.863 0.826 0.847 346 1013 317 0.887 249 441 130 105 151 0.001 9040 chr12 132624310 132624310 C T rs75236767 DDX51 Nonsynonymous SNV R615K 0.047 0.068 0.037 15 55 26 0.038 11 1 0 1 1 0.094 9041 chr2 61361296 61361296 G A rs13424173 KIAA1841 Nonsynonymous SNV G685S 0.014 0 0.003 7 16 0 0.018 1 0 0 0 0 23 9042 chr11 69242297 69242297 T C rs140704014 LOC102724265 Nonsynonymous SNV C62R 0.081 0.065 0.054 40 95 25 0.103 16 5 0 1 3 1.547 9043 chr2 86385728 86385728 C T rs1131071 IMMT Synonymous SNV G382G 0.138 0.128 0.126 51 162 49 0.131 37 11 2 6 5 17.03 9044 chr12 132625960 132625960 G A rs34067942 DDX51 Synonymous SNV I370I 0.055 0.055 0.068 22 64 21 0.056 20 2 0 2 1 6.951 9045 chr12 132626425 132626425 G A rs60927391 DDX51 Nonsynonymous SNV A322V 0.228 0.25 0.204 88 268 96 0.226 60 34 9 11 12 20.4 9046 chr11 71259725 71259725 G A rs34213141 KRTAP5-9 Nonsynonymous SNV G8R 0.02 0.018 0.034 8 24 7 0.021 10 0 0 0 0 11.71 9047 chr11 68206140 68206140 C T rs777631951 LRP5 Synonymous SNV G865G 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 10.76 9048 chr2 86400824 86400824 G A rs1050301 IMMT Nonsynonymous SNV P124S 0.364 0.391 0.333 146 427 150 0.374 98 76 36 24 28 24.4 9049 chr12 132682481 132682481 T G rs12308155 GALNT9 Synonymous SNV G141G 0.715 0.727 0.735 281 839 279 0.721 216 299 97 80 101 0.209 9050 chr11 6942619 6942619 G A rs75500269 OR2D3 Synonymous SNV A129A 0.026 0.031 0.027 11 30 12 0.028 8 0 0 0 0 5.64 9051 chr11 6942628 6942628 A C rs11605995 OR2D3 Synonymous SNV A132A 0.228 0.203 0.259 92 268 78 0.236 76 27 11 12 14 0.056 9052 chr2 86481835 86481835 C T rs2276625 REEP1 Synonymous SNV T68T 0.456 0.49 0.432 192 535 188 0.492 127 120 51 30 48 Benign 10.33 9053 chr12 132682484 132682484 A G rs12306514 GALNT9 Synonymous SNV D140D 0.713 0.724 0.735 281 837 278 0.721 216 297 96 80 101 0.005 9054 chr11 64329602 64329602 C T rs139931780 SLC22A11 Synonymous SNV A208A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.19 9055 chr11 6942952 6942952 T C rs2035844 OR2D3 Synonymous SNV T240T 0.228 0.203 0.259 92 268 78 0.236 76 27 11 12 14 0.797 9056 chr2 86683642 86683642 A G rs2030259 KDM3A Nonsynonymous SNV I212V 0.653 0.641 0.741 259 767 246 0.664 218 336 107 79 106 3.279 9057 chr12 132688115 132688115 C T rs11246991 GALNT9 Nonsynonymous SNV A34T 0.187 0.159 0.272 82 219 61 0.21 80 17 6 11 11 27.8 9058 chr11 71260165 71260165 C T rs61733899 KRTAP5-9 Synonymous SNV C154C 0.02 0.018 0.037 8 24 7 0.021 11 0 0 0 0 11.3 9059 chr11 69462910 69462910 G A rs9344 CCND1 Synonymous SNV P241P 0.532 0.547 0.503 230 624 210 0.59 148 174 61 39 67 risk factor 13.41 9060 chr2 86691250 86691250 G A rs12714187 KDM3A Synonymous SNV A306A 0.761 0.763 0.745 288 894 293 0.738 219 353 113 79 105 15.32 9061 chr12 132688137 132688137 A G rs7486927 GALNT9 Synonymous SNV Y26Y 0.514 0.518 0.439 179 603 199 0.459 129 152 52 22 46 0.004 9062 chr2 88387557 88387557 A C rs1542087 SMYD1 Nonsynonymous SNV Q164P 0.106 0.122 0.112 34 124 47 0.087 33 4 3 4 1 11.37 9063 chr12 133067343 133067343 A G rs4883578 FBRSL1 Nonsynonymous SNV T63A 0.697 0.669 0.952 291 818 257 0.746 280 403 127 138 145 0.014 9064 chr11 71850194 71850194 G A rs146299137 FOLR3 0.013 0.008 0.007 4 15 3 0.01 2 0 0 0 0 23 9065 chr11 6977175 6977175 G C rs2239730 ZNF215 Nonsynonymous SNV V85L 0.27 0.279 0.255 123 317 107 0.315 75 36 16 9 20 3.295 9066 chr12 133158632 133158632 C T rs3751304 MIR6763 0.65 0.667 0.667 269 763 256 0.69 196 248 78 64 94 8.673 9067 chr2 88396120 88396120 G A rs2919882 SMYD1 Synonymous SNV E222E 0.355 0.349 0.391 128 417 134 0.328 115 74 22 26 19 3.041 9068 chr2 62449763 62449763 T G rs78968142 B3GNT2 Nonsynonymous SNV D136E 0.011 0 0 7 13 0 0.018 0 0 0 0 0 Benign 0.045 9069 chr12 133181399 133181399 T C rs11146963 LRCOL1 Nonsynonymous SNV R42G 0.583 0.563 0.578 222 684 216 0.569 170 200 62 51 63 0.781 9070 chr2 88396123 88396123 C G rs2970912 SMYD1 Synonymous SNV L223L 0.355 0.349 0.391 128 417 134 0.328 115 74 22 26 19 6.4 9071 chr11 6567857 6567857 G C rs16915277 DNHD1 Nonsynonymous SNV K1896N 0.016 0.021 0.02 2 19 8 0.005 6 0 0 0 0 0.003 9072 chr11 721570 721570 C T rs7635 EPS8L2 Synonymous SNV I258I 0.378 0.349 0.381 141 444 134 0.362 112 84 29 27 20 16.38 9073 chr12 133182818 133182818 G A rs12819734 LRCOL1 Nonsynonymous SNV T7M 0.414 0.398 0.381 161 486 153 0.413 112 99 34 17 28 1.968 9074 chr2 88396174 88396174 T C rs2919881 SMYD1 Synonymous SNV I240I 0.356 0.352 0.391 128 418 135 0.328 115 74 22 26 19 0.016 9075 chr12 133196596 133196596 T C rs7964634 P2RX2 Synonymous SNV T84T 0.544 0.542 0.493 230 639 208 0.59 145 195 60 40 66 Benign 0.108 9076 chr11 72289291 72289291 T C rs1135029 PDE2A Synonymous SNV A860A 0.542 0.563 0.5 216 636 216 0.554 147 167 53 37 58 5.047 9077 chr11 70118489 70118489 G A rs546502 PPFIA1 Nonsynonymous SNV V71I 0.197 0.229 0.248 62 231 88 0.159 73 24 8 5 6 22.6 9078 chr11 67815400 67815400 C T rs34211419 TCIRG1 Synonymous SNV T289T 0.011 0.01 0.014 3 13 4 0.008 4 0 0 0 0 Benign/Likely benign 17.34 9079 chr2 88407959 88407959 T C rs2970918 SMYD1 Synonymous SNV H392H 0.151 0.172 0.204 70 177 66 0.179 60 20 7 8 9 0.4 9080 chr12 133208979 133208979 T C rs5745022 POLE Synonymous SNV S2084S 0.595 0.576 0.578 233 699 221 0.597 170 213 64 46 67 Benign 1.627 9081 chr11 6568290 6568290 T C rs11825154 DNHD1 Nonsynonymous SNV F2041L 0.016 0.021 0.027 2 19 8 0.005 8 0 0 0 0 20.8 9082 chr2 88424066 88424066 T C rs2241883 FABP1 Nonsynonymous SNV T94A 0.32 0.318 0.262 122 376 122 0.313 77 61 15 9 22 6.888 9083 chr11 68855363 68855363 G A rs3829241 TPCN2 Nonsynonymous SNV G734E 0.27 0.294 0.197 118 317 113 0.303 58 44 20 9 20 association 0.002 9084 chr12 133212582 133212582 G A rs5744990 POLE Synonymous SNV L1903L 0.165 0.146 0.153 57 194 56 0.146 45 21 4 2 4 Benign 7.978 9085 chr11 72415528 72415528 G T rs2306616 ARAP1-AS2 0.156 0.115 0.18 77 183 44 0.197 53 62 13 11 23 4.445 9086 chr12 133219831 133219831 T C rs5744944 POLE Synonymous SNV A1510A 0.445 0.438 0.425 184 522 168 0.472 125 116 35 18 40 Benign 0.874 9087 chr12 133236000 133236000 C T rs5744857 POLE Synonymous SNV T1052T 0.446 0.438 0.425 183 524 168 0.469 125 116 35 18 40 Benign 15.41 9088 chr2 88472791 88472791 G A rs4129190 THNSL2 Nonsynonymous SNV G41E 0.923 0.922 0.898 356 1084 354 0.913 264 504 163 121 161 4.197 9089 chr11 6567591 6567591 C T rs145119715 DNHD1 Nonsynonymous SNV R1808C 0.016 0.018 0.007 7 19 7 0.018 2 0 0 0 0 22.6 9090 chr12 133253995 133253995 G A rs5744751 POLE Nonsynonymous SNV A252V 0.116 0.096 0.122 39 136 37 0.1 36 15 1 2 2 Benign 18.57 9091 chr2 63815405 63815405 T G WDPCP Star tloss M1? 0.011 0.005 0 6 13 2 0.015 0 0 0 0 0 2.534 9092 chr2 88874891 88874891 C A rs1805165 EIF2AK3 Nonsynonymous SNV A553S 0.721 0.732 0.786 296 847 281 0.759 231 304 108 89 111 Benign 15.98 9093 chr11 72946204 72946204 C T rs1626154 P2RY2 Nonsynonymous SNV R334C 0.277 0.326 0.245 93 325 125 0.238 72 40 23 11 7 26.3 9094 chr12 133272470 133272470 G T rs74727297 PXMP2 Synonymous SNV G79G 0.116 0.096 0.102 40 136 37 0.103 30 15 1 2 2 0.25 9095 chr2 65315699 65315699 A C rs72888448 RAB1A Synonymous SNV A106A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.029 9096 chr11 68029738 68029738 G A rs143548724 C11orf24 Nonsynonymous SNV A242V 0.014 0.01 0.02 11 16 4 0.028 6 0 0 0 0 16.66 9097 chr12 133294333 133294333 C T rs61978651 PGAM5 Synonymous SNV G178G 0.117 0.091 0.105 36 137 35 0.092 31 15 1 2 1 19.04 9098 chr12 133303973 133303973 C G rs77646743 ANKLE2 Nonsynonymous SNV G891A 0.108 0.078 0.105 35 127 30 0.09 31 14 1 2 1 0.006 9099 chr2 88879131 88879131 T C rs1805164 EIF2AK3 Synonymous SNV Q446Q 0.284 0.286 0.231 129 334 110 0.331 68 53 17 7 25 Benign 0.228 9100 chr11 73019707 73019707 C G rs376619433 ARHGEF17 Synonymous SNV P8P 0.003 0.01 0 1 4 4 0.003 0 0 1 0 0 9.435 9101 chr2 88895123 88895123 T C rs13045 EIF2AK3 Nonsynonymous SNV Q15R 0.705 0.708 0.759 280 828 272 0.718 223 290 102 83 101 Benign 11.15 9102 chr12 133306710 133306710 C T rs78905764 ANKLE2 Nonsynonymous SNV E680K 0.108 0.081 0.105 35 127 31 0.09 31 14 1 2 1 19.05 9103 chr2 88926730 88926732 CAG - rs72416210 EIF2AK3 L21del 0.583 0.557 0.282 239 685 214 0.613 83 237 72 25 79 9104 chr12 133331364 133331364 G A rs34152718 ANKLE2 Synonymous SNV P179P 0.078 0.068 0.065 28 92 26 0.072 19 5 1 1 0 3.461 9105 chr11 64646034 64646034 G C rs12801172 MIR10392 0.06 0.042 0.085 30 71 16 0.077 25 4 0 1 1 3.448 9106 chr2 95766599 95766599 C T rs115258802 MRPS5 Nonsynonymous SNV R205Q 0.064 0.036 0.027 24 75 14 0.062 8 5 2 0 0 28.2 9107 chr11 73120653 73120653 A G rs10793060 FAM168A Synonymous SNV H158H 0.178 0.161 0.177 62 209 62 0.159 52 22 6 5 4 8.181 9108 chr12 133373173 133373173 C T GOLGA3 Synonymous SNV L684L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 9109 chr12 133378440 133378440 C T rs2291258 GOLGA3 Synonymous SNV L571L 0.33 0.344 0.33 137 387 132 0.351 97 58 23 17 20 12.89 9110 chr12 133384864 133384864 G A rs3741486 GOLGA3 Nonsynonymous SNV P264L 0.213 0.224 0.221 92 250 86 0.236 65 34 10 9 5 4.15 9111 chr2 95787501 95787501 G A rs148536948 MRPS5 Synonymous SNV P12P 0.021 0.029 0.017 10 25 11 0.026 5 0 0 0 0 8.836 9112 chr2 68270068 68270068 A G rs10444 C1D Nonsynonymous SNV S127P 0.129 0.122 0.017 48 151 47 0.123 5 24 9 2 6 1.593 9113 chr11 73611349 73611349 G C rs2067912 PAAF1 Nonsynonymous SNV C140S 0.098 0.065 0.068 34 115 25 0.087 20 7 1 1 2 21.4 9114 chr11 65779590 65779590 C T rs1131544 CST6 Synonymous SNV D25D 0.172 0.211 0.129 71 202 81 0.182 38 20 11 2 7 13.36 9115 chr2 95847041 95847043 GCG - rs10578519 ZNF2 R80del 0.981 0.982 0.969 383 1152 377 0.982 285 565 185 138 188 9116 chr12 133393323 133393323 C T rs2291256 GOLGA3 Nonsynonymous SNV G70E 0.091 0.102 0.102 46 107 39 0.118 30 3 1 2 2 26.6 9117 chr2 95947085 95947085 A G rs12992066 PROM2 Nonsynonymous SNV Q508R 0.772 0.711 0.81 285 906 273 0.731 238 345 100 99 100 0.001 9118 chr11 73670645 73670645 T C rs653263 DNAJB13 Synonymous SNV H93H 0.456 0.443 0.432 192 535 170 0.492 127 123 38 26 49 0.004 9119 chr12 133423662 133423662 C T rs2306536 CHFR Nonsynonymous SNV V488M 0.254 0.273 0.238 93 298 105 0.238 70 34 14 7 13 9.851 9120 chr11 68177405 68177405 C T rs145456776 LRP5 Synonymous SNV N124N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.32 9121 chr2 68388823 68388823 A G rs1137930 PNO1 Synonymous SNV K122K 0.351 0.326 0.32 146 412 125 0.374 94 72 19 15 23 4.996 9122 chr11 7110363 7110363 G A rs4758158 RBMXL2 Synonymous SNV A4A 0.286 0.255 0.276 99 336 98 0.254 81 46 9 14 13 8.318 9123 chr2 96780716 96780716 T G rs2229169 ADRA2B Synonymous SNV G391G 0.793 0.826 0.813 292 931 317 0.749 239 365 131 97 112 0.467 9124 chr11 70034026 70034026 G A rs34064841 ANO1 Synonymous SNV P959P 0.046 0.049 0.034 28 54 19 0.072 10 0 0 0 1 10.11 9125 chr12 133423695 133423695 A G rs2306537 CHFR Synonymous SNV L477L 0.214 0.224 0.221 95 251 86 0.244 65 34 10 9 6 3.196 9126 chr2 68415767 68415767 G A rs687 PPP3R1 Synonymous SNV D33D 0.495 0.474 0.469 189 581 182 0.485 138 145 48 38 45 6.839 9127 chr2 96780986 96780986 - TCCTCCTCT rs28365031 ADRA2B E306_C307insEEE 0.793 0.828 0.81 293 931 318 0.751 238 364 132 97 113 9128 chr12 133433173 133433173 T C rs2062163 CHFR Synonymous SNV R290R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 9.122 9129 chr11 73745147 73745147 A G rs826071 C2CD3 Nonsynonymous SNV S2020P 0.016 0.023 0.027 5 19 9 0.013 8 0 0 0 0 0.953 9130 chr2 96795857 96795857 T C rs749458 ASTL Nonsynonymous SNV Q222R 0.764 0.737 0.776 298 897 283 0.764 228 344 109 91 113 0.308 9131 chr12 133435716 133435716 T G rs35011845 CHFR Synonymous SNV P203P 0.214 0.224 0.221 94 251 86 0.241 65 34 10 9 6 8.591 9132 chr11 73796917 73796917 C T rs826058 C2CD3 Nonsynonymous SNV R1219Q 0.325 0.268 0.303 125 381 103 0.321 89 55 11 13 20 13.4 9133 chr12 133697130 133697130 C G rs2173970 ZNF891 Nonsynonymous SNV V459L 0.274 0.268 0.276 111 322 103 0.285 81 38 12 11 18 15.93 9134 chr11 7111111 7111111 T C RBMXL2 Synonymous SNV L254L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.663 9135 chr2 96859034 96859034 A G rs997547 STARD7 Synonymous SNV I202I 0.21 0.201 0.214 72 247 77 0.185 63 25 9 3 5 8.448 9136 chr12 133697131 133697131 A G rs11608611 ZNF891 Synonymous SNV N458N 0.274 0.268 0.279 111 322 103 0.285 82 38 12 11 18 0.665 9137 chr11 68682402 68682402 A G rs10896380 IGHMBP2 Nonsynonymous SNV I275V 0.265 0.255 0.265 104 311 98 0.267 78 45 16 9 10 Benign 8.171 9138 chr2 96861159 96861159 C G rs2276650 STARD7 Nonsynonymous SNV R140P 0.186 0.174 0.136 60 218 67 0.154 40 17 6 3 4 17.63 9139 chr12 133768553 133768553 A T rs61960670 ZNF268 Nonsynonymous SNV M74L 0.274 0.271 0.279 102 322 104 0.262 82 37 13 12 14 0.002 9140 chr2 68613710 68613710 G A rs2070171 PLEK Synonymous SNV S183S 0.365 0.365 0.35 157 428 140 0.403 103 79 21 18 26 8.67 9141 chr11 64809044 64809044 C T rs3741390 SAC3D1 Nonsynonymous SNV R94C 0.23 0.242 0.238 74 270 93 0.19 70 28 16 11 4 21.9 9142 chr11 68701948 68701948 C T rs11228413 IGHMBP2 Synonymous SNV V518V 0.265 0.255 0.265 106 311 98 0.272 78 45 16 9 11 Benign 14.55 9143 chr12 133770096 133770096 G A rs61960671 ZNF268 Synonymous SNV T113T 0.214 0.216 0.238 72 251 83 0.185 70 26 7 9 7 4.365 9144 chr2 96919642 96919642 C T rs3852673 TMEM127 Synonymous SNV A207A 0.219 0.206 0.221 77 257 79 0.197 65 26 9 4 5 Benign 11.14 9145 chr12 133780309 133780309 G T rs36127550 ZNF268 Nonsynonymous SNV L679F 0.22 0.193 0.19 64 258 74 0.164 56 28 6 5 4 18.63 9146 chr11 68704028 68704028 C T rs2236654 IGHMBP2 Nonsynonymous SNV R694W 0.265 0.255 0.265 105 311 98 0.269 78 45 16 9 10 Benign 23.4 9147 chr2 96952833 96952833 A G rs3171927 SNRNP200 Synonymous SNV L1184L 0.394 0.375 0.418 153 462 144 0.392 123 89 31 25 28 Benign 9.951 9148 chr11 74168411 74168411 A G rs2270676 KCNE3 Synonymous SNV F66F 0.109 0.122 0.105 32 128 47 0.082 31 6 1 1 0 Benign/Likely benign 0.252 9149 chr11 70279766 70279766 C T rs643301 CTTN Synonymous SNV Y449Y 0.204 0.229 0.252 74 239 88 0.19 74 28 8 6 7 9.564 9150 chr12 133780851 133780851 G C rs62644541 ZNF268 Nonsynonymous SNV R860T 0.273 0.268 0.279 102 321 103 0.262 82 37 13 12 14 25.8 9151 chr2 96993757 96993757 C T rs2279105 ITPRIPL1 Nonsynonymous SNV T471M 0.385 0.378 0.429 136 452 145 0.349 126 83 33 25 18 23.4 9152 chr2 68729931 68729931 A G rs112136813 APLF Synonymous SNV L79L 0.039 0.023 0.051 14 46 9 0.036 15 0 0 0 0 10.77 9153 chr2 68729992 68729992 A G rs11902811 APLF Nonsynonymous SNV I100V 0.049 0.026 0.065 17 57 10 0.044 19 1 0 0 0 1.066 9154 chr12 133795885 133795885 G A rs144454089 ANHX Nonsynonymous SNV A346V 0.447 0.451 0.435 163 525 173 0.418 128 113 35 29 33 23.4 9155 chr2 96993884 96993884 A G rs1048675 ITPRIPL1 Synonymous SNV P513P 0.385 0.378 0.429 138 452 145 0.354 126 83 33 25 19 0.021 9156 chr12 133803551 133803551 G C rs36146434 ANHX Nonsynonymous SNV S230C 0.268 0.258 0.276 98 315 99 0.251 81 35 13 12 13 20.8 9157 chr2 97020049 97020049 T C rs3731935 NCAPH Synonymous SNV D241D 0.354 0.346 0.401 132 416 133 0.338 118 72 28 21 19 0.14 9158 chr2 97030247 97030247 T C rs2305935 NCAPH Nonsynonymous SNV V403A 0.387 0.378 0.422 139 454 145 0.356 124 83 33 26 20 0.017 9159 chr12 133808129 133808129 C T rs147259575 ANHX Synonymous SNV P117P 0.268 0.258 0.279 98 315 99 0.251 82 35 13 12 13 14.49 9160 chr2 68794483 68794483 C A rs36021078 APLF Nonsynonymous SNV Q433K 0.031 0.021 0.048 12 36 8 0.031 14 0 0 0 0 25.2 9161 chr12 133810703 133810703 G C rs141475940 ANHX Synonymous SNV R80R 0.27 0.258 0.282 99 317 99 0.254 83 36 13 13 14 7.208 9162 chr11 74208214 74208214 G A rs656506 LOC100287896 Synonymous SNV T88T 0.519 0.555 0.439 182 609 213 0.467 129 185 67 42 47 3.283 9163 chr2 97166204 97166204 A G rs3731938 NEURL3 Synonymous SNV Y162Y 0.621 0.589 0.653 233 729 226 0.597 192 229 69 66 61 16.34 9164 chr12 13717508 13717508 G A rs1806201 GRIN2B Synonymous SNV T888T 0.29 0.294 0.282 95 341 113 0.244 83 43 22 10 11 Benign 5.079 9165 chr11 74208592 74208592 G T rs657339 LOC100287896 Nonsynonymous SNV K214N 0.538 0.591 0.51 194 632 227 0.497 150 186 70 43 48 0.524 9166 chr2 68873071 68873071 A G rs7570797 PROKR1 Nonsynonymous SNV S40G 0.044 0.029 0.061 16 52 11 0.041 18 0 0 0 0 0.002 9167 chr12 14656768 14656768 G C rs1600 PLBD1 Nonsynonymous SNV P534A 0.47 0.5 0.442 165 552 192 0.423 130 135 51 26 33 25.7 9168 chr2 97351840 97351840 A G rs7599598 FER1L5 Nonsynonymous SNV T687A 0.385 0.331 0.398 132 452 127 0.338 117 88 21 20 23 12.71 9169 chr11 68846399 68846399 A T rs35264875 TPCN2 Nonsynonymous SNV M484L 0.198 0.193 0.238 82 233 74 0.21 70 22 8 4 8 association 0.006 9170 chr11 74414488 74414488 G A CHRDL2 Nonsynonymous SNV R205C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 28.8 9171 chr2 68882468 68882468 T C rs6722313 PROKR1 Synonymous SNV F314F 0.243 0.242 0.238 105 285 93 0.269 70 37 14 7 13 1.282 9172 chr12 14688644 14688644 C T rs7957558 PLBD1 Nonsynonymous SNV V265I 0.981 0.971 0.976 382 1152 373 0.979 287 565 181 140 187 9.392 9173 chr11 66099888 66099888 C T rs61547186 RIN1 Synonymous SNV G709G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 10.47 9174 chr2 97493877 97493877 T C rs1320149 CNNM3 Synonymous SNV F529F 0.175 0.154 0.18 43 206 59 0.11 53 24 6 2 2 5.73 9175 chr2 97613616 97613616 T C rs1624844 FAM178B Synonymous SNV T339T 0.79 0.807 0.799 317 928 310 0.813 235 378 127 98 128 0.381 9176 chr11 64883958 64883958 C A rs200656382 ZNHIT2 Nonsynonymous SNV V390L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 9177 chr12 14720583 14720583 T C rs7954623 PLBD1 Synonymous SNV P16P 0.911 0.875 0.81 347 1070 336 0.89 238 530 168 117 171 1.126 9178 chr11 72040784 72040784 T C rs36049191 CLPB Synonymous SNV E251E 0.052 0.042 0.051 16 61 16 0.041 15 2 0 0 0 Benign 0.075 9179 chr12 14794062 14794062 G A rs10772800 GUCY2C Synonymous SNV I674I 0.986 0.982 0.986 385 1157 377 0.987 290 570 185 143 190 Benign 14.75 9180 chr2 97617140 97617140 T C rs1257019 FAM178B Synonymous SNV V323V 0.807 0.82 0.806 323 948 315 0.828 237 377 127 98 129 0.988 9181 chr11 74546905 74546905 G A rs1125609 RNF169 Synonymous SNV Q419Q 0.229 0.206 0.204 83 269 79 0.213 60 34 6 10 6 4.199 9182 chr12 14829893 14829893 A C rs1420635 GUCY2C Nonsynonymous SNV F281L 0.98 0.969 0.997 381 1151 372 0.977 293 575 186 146 190 0.831 9183 chr2 97637905 97637905 T C rs6715329 FAM178B Nonsynonymous SNV I99M 0.838 0.846 0.769 338 984 325 0.867 226 408 135 100 144 0.013 9184 chr11 68854012 68854012 A G rs35337391 TPCN2 Synonymous SNV V675V 0.198 0.193 0.238 84 233 74 0.215 70 22 8 4 8 4.29 9185 chr11 6898758 6898758 A C rs7102808 OR10A4 Synonymous SNV R294R 0.158 0.135 0.194 38 186 52 0.097 57 17 4 7 3 0.027 9186 chr2 97638038 97638038 A G rs1730120 FAM178B Nonsynonymous SNV V55A 0.837 0.839 0.697 338 983 322 0.867 205 408 133 92 144 0.001 9187 chr11 66335832 66335832 G A rs1044522 CTSF Synonymous SNV P42P 0.122 0.107 0 47 143 41 0.121 0 36 10 0 12 Benign 4.951 9188 chr12 14836077 14836077 G A rs56003832 GUCY2C Synonymous SNV F170F 0.009 0.021 0.02 2 10 8 0.005 6 0 0 0 0 12.58 9189 chr12 14840894 14840894 C T GUCY2C Synonymous SNV R107R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.02 9190 chr11 72290629 72290629 G A rs392565 PDE2A Synonymous SNV I728I 0.255 0.234 0.235 109 299 90 0.279 69 39 6 15 18 16.84 9191 chr12 15081897 15081897 A C rs2445371 ERP27 Synonymous SNV T4T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.988 9192 chr2 98274527 98274527 G C rs1042705 ACTR1B Synonymous SNV V268V 0.678 0.69 0.684 275 796 265 0.705 201 271 92 70 96 0.41 9193 chr2 70488470 70488470 C T rs2706762 PCYOX1 Nonsynonymous SNV S149F 0.166 0.182 0.122 65 195 70 0.167 36 19 7 2 5 13.07 9194 chr12 15095558 15095558 C G rs4703 ARHGDIB Synonymous SNV A168A 0.486 0.503 0.507 173 571 193 0.444 149 141 51 37 34 18.94 9195 chr11 74904474 74904474 C T rs144302377 SLCO2B1 Synonymous SNV G285G 0.009 0.003 0.014 1 10 1 0.003 4 0 0 1 0 Benign 10.05 9196 chr2 98611994 98611994 G T rs2279824 TMEM131 Synonymous SNV G44G 0.569 0.49 0.595 219 668 188 0.562 175 297 83 76 92 6.688 9197 chr11 7509566 7509566 A T rs12805648 OLFML1 Nonsynonymous SNV E113V 0.108 0.12 0.143 51 127 46 0.131 42 4 3 2 3 23.3 9198 chr11 72408055 72408055 G C rs56200889 ARAP1 Nonsynonymous SNV Q741E 0.237 0.25 0.204 76 278 96 0.195 60 44 17 6 8 4.928 9199 chr12 15103605 15103605 A G rs2430711 ARHGDIB Synonymous SNV D14D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.039 9200 chr2 98928494 98928494 G A rs7587534 VWA3B Nonsynonymous SNV R902K 0.971 0.984 0.983 379 1140 378 0.972 289 553 186 142 184 0.003 9201 chr2 70900403 70900403 G A rs4984 ADD2 Synonymous SNV S599S 0.149 0.13 0.16 64 175 50 0.164 47 9 2 4 7 5.751 9202 chr12 16347308 16347308 G A rs3942536 SLC15A5 Synonymous SNV N521N 0.43 0.448 0.384 203 505 172 0.521 113 117 32 21 52 11.17 9203 chr11 6631016 6631016 C T rs2292195 ILK Synonymous SNV A245A 0.206 0.159 0.204 91 242 61 0.233 60 19 4 5 11 Benign 9.833 9204 chr2 71012604 71012604 G A rs7566541 FIGLA Synonymous SNV H184H 0.588 0.505 0.548 213 690 194 0.546 161 201 49 49 60 Benign 0.349 9205 chr11 6913290 6913290 A G rs1965209 OR2D2 Nonsynonymous SNV S148P 0.164 0.138 0.197 42 192 53 0.108 58 16 4 7 3 24 9206 chr11 7509682 7509682 G A rs12803770 OLFML1 Nonsynonymous SNV D152N 0.098 0.102 0.143 49 115 39 0.126 42 4 3 2 3 13.41 9207 chr12 16369828 16369828 A T rs1671511 SLC15A5 Nonsynonymous SNV D494E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.33 9208 chr2 98986510 98986510 T C rs6727412 CNGA3 Synonymous SNV D24D 0.228 0.198 0.184 83 268 76 0.213 54 25 7 6 8 Benign 0.034 9209 chr11 66473243 66473243 G A rs148207416 SPTBN2 Synonymous SNV H573H 0.003 0.008 0.014 2 4 3 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 10.52 9210 chr2 71012734 71012734 C G rs7566476 FIGLA Nonsynonymous SNV S141T 0.564 0.477 0.524 207 662 183 0.531 154 188 41 46 58 Benign 0.018 9211 chr2 99149946 99149946 G A rs2278211 INPP4A Synonymous SNV T86T 0.287 0.31 0.313 117 337 119 0.3 92 39 17 14 16 15.47 9212 chr12 16397677 16397677 G A rs1527014 SLC15A5 Nonsynonymous SNV P271L 0.962 0.982 0.956 378 1129 377 0.969 281 542 185 134 183 0.019 9213 chr11 6632450 6632450 C T rs12451 TAF10 Synonymous SNV T179T 0.18 0.133 0.194 74 211 51 0.19 57 11 4 5 8 11.8 9214 chr11 726160 726160 G A EPS8L2 Synonymous SNV G581G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 9215 chr11 75277992 75277992 C T rs651581 SERPINH1 Synonymous SNV L200L 0.627 0.573 0.616 247 736 220 0.633 181 234 70 53 71 Benign 11.99 9216 chr2 99172244 99172244 A G rs2278206 INPP4A Nonsynonymous SNV T599A 0.283 0.307 0.303 123 332 118 0.315 89 40 18 13 18 0.241 9217 chr12 16397734 16397734 C A rs1852450 SLC15A5 Nonsynonymous SNV R252L 0.347 0.378 0.354 175 407 145 0.449 104 76 23 19 38 12.29 9218 chr11 75298797 75298797 A G rs1231128 MAP6 Synonymous SNV D583D 0.273 0.328 0.303 119 320 126 0.305 89 40 24 20 17 1.721 9219 chr2 99193496 99193496 C T rs2230388 INPP4A Synonymous SNV S842S 0.282 0.31 0.299 121 331 119 0.31 88 39 18 13 17 19.03 9220 chr11 75378674 75378674 A C rs12225010 MAP6 Nonsynonymous SNV I247M 0.193 0.255 0.446 115 226 98 0.295 131 94 40 47 45 0.003 9221 chr2 71060936 71060936 G C rs17718987 CD207 Nonsynonymous SNV Q136E 0.279 0.25 0.31 124 327 96 0.318 91 47 16 11 19 0.001 9222 chr12 16425656 16425656 A T rs1799516 SLC15A5 Nonsynonymous SNV H141Q 0.226 0.24 0.248 96 265 92 0.246 73 33 12 10 10 0.835 9223 chr2 99226173 99226173 T A rs1062847 UNC50 Star tloss M1? 0.28 0.318 0.313 122 329 122 0.313 92 38 18 14 19 9.765 9224 chr11 72946140 72946140 G C rs3741156 P2RY2 Nonsynonymous SNV R312S 0.19 0.164 0.211 87 223 63 0.223 62 16 4 8 5 6.448 9225 chr12 16430284 16430284 G A rs1671487 SLC15A5 Synonymous SNV Y112Y 1 0.997 0.997 388 1174 383 0.995 293 587 191 146 193 0.004 9226 chr11 75428958 75428958 A G rs554202 MOGAT2 Nonsynonymous SNV M9V 0.518 0.43 0.446 186 608 165 0.477 131 154 27 31 43 0.012 9227 chr11 6652976 6652976 C T rs138559226 DCHS1 Synonymous SNV Q1182Q 0.014 0.021 0.017 7 17 8 0.018 5 0 0 0 0 5.504 9228 chr2 99443520 99443520 C A rs199695159 KIAA1211L Nonsynonymous SNV C218F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 9229 chr12 18435399 18435401 CCC - rs35277916 PIK3C2G P129del 0.369 0.391 0.408 166 433 150 0.426 120 73 24 30 33 9230 chr11 6643976 6643976 C T rs7122587 DCHS1 Synonymous SNV Q2977Q 0.152 0.128 0.133 73 179 49 0.187 39 7 3 4 6 4.127 9231 chr12 18435452 18435452 C T rs11044004 PIK3C2G Nonsynonymous SNV P146L 0.369 0.391 0.412 166 433 150 0.426 121 73 24 31 33 8.028 9232 chr11 76121922 76121922 C A rs2187468 GVQW3 Nonsynonymous SNV A161E 0.863 0.836 0 338 1013 321 0.867 0 437 133 0 147 18.33 9233 chr2 99778985 99778985 T C rs2632277 LIPT1 Synonymous SNV L189L 0.619 0.622 0.687 249 727 239 0.638 202 209 73 68 78 Benign 0.003 9234 chr11 6644600 6644600 C T rs72911011 DCHS1 Synonymous SNV A2769A 0.151 0.128 0.133 73 177 49 0.187 39 7 3 4 6 12.96 9235 chr11 66610645 66610645 G C rs7570 C11orf80 Synonymous SNV V492V 0.278 0.302 0.238 100 326 116 0.256 70 46 22 12 18 1.163 9236 chr11 76122089 76122089 T C rs2156709 GVQW3 Nonsynonymous SNV C217R 0.869 0.836 0 341 1020 321 0.874 0 443 133 0 150 12.41 9237 chr11 72946279 72946279 T C rs74472890 P2RY2 Nonsynonymous SNV S359P 0.051 0.034 0.037 16 60 13 0.041 11 0 0 1 0 16.42 9238 chr12 1910786 1910786 C T rs62621429 CACNA2D4 Nonsynonymous SNV D916N 0.043 0.055 0.034 15 50 21 0.038 10 2 1 0 1 Benign 22.3 9239 chr2 99779131 99779131 T C rs2516835 LIPT1 Synonymous SNV A237A 0.581 0.591 0.667 226 682 227 0.579 196 186 68 65 64 Benign 0.298 9240 chr11 66626234 66626234 T C rs3741194 LRFN4 Nonsynonymous SNV V340A 0.294 0.328 0.262 102 345 126 0.262 77 49 24 13 19 20.6 9241 chr2 71160222 71160222 C G rs2234500 VAX2 Nonsynonymous SNV P254R 0.072 0.073 0.071 31 84 28 0.079 21 3 0 1 0 21 9242 chr2 99804642 99804642 T C rs10865030 MRPL30 Synonymous SNV T18T 0.927 0.917 0.898 363 1088 352 0.931 264 503 162 126 169 0.022 9243 chr11 66458980 66458980 G A rs623022 SPTBN2 Synonymous SNV N1780N 0.022 0.026 0.01 4 26 10 0.01 3 2 0 0 0 Benign/Likely benign 12.48 9244 chr12 1949939 1949939 C T rs33972365 CACNA2D4 Synonymous SNV A839A 0.099 0.115 0.092 39 116 44 0.1 27 8 3 1 3 Benign 18.5 9245 chr2 100218080 100218080 G A rs4851214 AFF3 Synonymous SNV A421A 0.22 0.234 0.054 93 258 90 0.238 16 29 17 7 13 10.01 9246 chr2 71163086 71163086 T C rs11681642 ATP6V1B1 Star tloss M1? 0.353 0.339 0.384 159 414 130 0.408 113 82 21 23 34 Benign 23.4 9247 chr11 66460527 66460527 C T rs639938 SPTBN2 Synonymous SNV L1633L 0.023 0.026 0.007 4 27 10 0.01 2 2 0 0 0 Benign/Likely benign 12.5 9248 chr12 1983782 1983782 C T rs758160 CACNA2D4 Synonymous SNV P622P 0.106 0.107 0.112 38 125 41 0.097 33 10 2 2 2 Benign 14.19 9249 chr11 76371418 76371418 C T rs79525962 LRRC32 Nonsynonymous SNV A297T 0.022 0.016 0.017 14 26 6 0.036 5 1 0 0 0 3.371 9250 chr11 73662133 73662133 T A rs202023755 DNAJB13 Nonsynonymous SNV S7T 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 6.176 9251 chr2 100343557 100343557 C T rs4851223 AFF3 Nonsynonymous SNV S383N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.82 9252 chr12 1988167 1988167 T C rs7966806 CACNA2D4 Synonymous SNV S533S 0.109 0.109 0.116 40 128 42 0.103 34 10 3 2 2 Benign 1.345 9253 chr11 66468469 66468469 A G rs506028 SPTBN2 Nonsynonymous SNV V1034A 0.101 0.12 0.054 35 119 46 0.09 16 8 3 0 1 Benign 0.004 9254 chr11 71943710 71943710 C A rs752823059 INPPL1 Nonsynonymous SNV L585M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.4 9255 chr2 71163111 71163111 T C rs17853498 ATP6V1B1 Synonymous SNV P9P 0.072 0.076 0.078 32 84 29 0.082 23 3 0 1 0 Benign 0.438 9256 chr12 1989018 1989018 T C rs60945277 CACNA2D4 Synonymous SNV T505T 0.123 0.115 0.133 42 144 44 0.108 39 10 3 2 2 Benign 0.081 9257 chr11 65293819 65293819 G A rs75169347 SCYL1 Synonymous SNV K200K 0.069 0.076 0.051 19 81 29 0.049 15 3 0 1 1 11.66 9258 chr2 100915772 100915772 A G rs4851287 LONRF2 Nonsynonymous SNV L426P 0.631 0.654 0.592 246 741 251 0.631 174 249 86 48 78 8.884 9259 chr12 1995403 1995403 T C rs10735005 CACNA2D4 Nonsynonymous SNV I327V 0.859 0.862 0.847 337 1008 331 0.864 249 429 142 106 149 Benign 10.46 9260 chr2 71170807 71170807 C T rs2266918 ATP6V1B1 Synonymous SNV S46S 0.162 0.143 0.197 48 190 55 0.123 58 16 6 7 1 Benign 15.25 9261 chr11 73681090 73681090 C T rs2306819 DNAJB13 Synonymous SNV F294F 0.295 0.268 0.296 121 346 103 0.31 87 51 17 13 13 16.89 9262 chr11 76506888 76506888 G A rs11546727 TSKU Synonymous SNV S76S 0.07 0.047 0.027 31 82 18 0.079 8 4 1 0 0 1.282 9263 chr2 71175511 71175511 - AA rs35598289 ATP6V1B1-AS1 0.109 0.102 0.105 39 128 39 0.1 31 8 3 3 1 9264 chr2 100916306 100916306 A G rs2033748 LONRF2 Synonymous SNV F380F 0.65 0.667 0.582 247 763 256 0.633 171 250 86 48 78 5.253 9265 chr11 73681135 73681135 G A rs72982975 DNAJB13 Nonsynonymous SNV M309I 0.212 0.193 0.231 92 249 74 0.236 68 27 7 11 10 16.89 9266 chr12 2024092 2024092 T C rs73038195 CACNA2D4 Synonymous SNV L79L 0.105 0.112 0.112 40 123 43 0.103 33 11 2 2 2 Benign 4.195 9267 chr11 70194334 70194334 A G rs150848472 PPFIA1 Synonymous SNV A657A 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 8.263 9268 chr2 71175552 71175552 - G rs34723947 ATP6V1B1-AS1 0.114 0.104 0.105 40 134 40 0.103 31 10 3 3 1 9269 chr2 100916315 100916315 A G rs11123823 LONRF2 Synonymous SNV G377G 0.393 0.404 0.35 152 461 155 0.39 103 96 33 18 33 6.286 9270 chr11 76507692 76507692 T A rs1149621 TSKU Nonsynonymous SNV D344E 0.796 0.807 0.578 314 934 310 0.805 170 373 126 72 126 0.038 9271 chr12 2039690 2039690 A G rs2429172 LINC00940 0 0 0.551 0 0 0 0 162 0 0 50 0 0.567 9272 chr11 67076915 67076915 C G SSH3 Nonsynonymous SNV P370R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 9273 chr12 20522252 20522252 G A rs12305038 PDE3A Nonsynonymous SNV D12N 0.225 0.232 0.282 107 264 89 0.274 83 34 11 12 16 8.191 9274 chr2 100917109 100917109 C T rs13006224 LONRF2 Synonymous SNV S354S 0.415 0.438 0.391 165 487 168 0.423 115 101 37 23 37 16.5 9275 chr11 73689104 73689104 G A rs660339 UCP2 Nonsynonymous SNV A55V 0.328 0.331 0.316 155 385 127 0.397 93 55 17 16 28 Benign 10.13 9276 chr11 67223254 67223254 C T rs192900242 CABP4 Synonymous SNV F120F 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Benign/Likely benign 14.7 9277 chr2 100938481 100938481 C G rs74177696 LONRF2 Nonsynonymous SNV Q25H 0.362 0.375 0.075 149 425 144 0.382 22 98 37 9 35 10.23 9278 chr12 2058296 2058296 G C rs776011833 DCP1B Nonsynonymous SNV L577V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.28 9279 chr11 65349037 65349037 G A rs74684453 EHBP1L1 Synonymous SNV T298T 0.032 0.029 0.034 9 37 11 0.023 10 1 0 1 0 14.49 9280 chr11 7022360 7022360 A C rs2239734 ZNF214 Nonsynonymous SNV I185R 0.099 0.096 0.099 52 116 37 0.133 29 4 2 0 5 8.509 9281 chr12 2061614 2061614 G A rs113839196 DCP1B Nonsynonymous SNV P498S 0.048 0.063 0.054 23 56 24 0.059 16 1 1 0 0 3.349 9282 chr2 101010082 101010082 G C rs3748930 CHST10 Synonymous SNV T232T 0.449 0.461 0.412 175 527 177 0.449 121 121 40 24 43 6.292 9283 chr11 7022531 7022531 A C rs1156525 ZNF214 Nonsynonymous SNV L128R 0.04 0.042 0.02 17 47 16 0.044 6 3 1 0 0 0.002 9284 chr2 101086966 101086966 C T rs13411940 NMS Nonsynonymous SNV P6S 0.172 0.188 0.204 72 202 72 0.185 60 22 6 8 5 13.65 9285 chr12 2061982 2061982 G A rs1044950 DCP1B Nonsynonymous SNV A375V 0.048 0.063 0.054 22 56 24 0.056 16 1 1 0 0 1.659 9286 chr11 73105728 73105728 C T rs12362779 RELT Nonsynonymous SNV A332V 0.018 0.008 0.01 7 21 3 0.018 3 0 0 0 1 22.2 9287 chr2 101096960 101096960 C T rs1519654 NMS Synonymous SNV G113G 0.45 0.456 0.483 191 528 175 0.49 142 122 43 36 43 0.64 9288 chr12 2062075 2062075 C T rs715146 DCP1B Nonsynonymous SNV R344H 0.048 0.063 0.054 22 56 24 0.056 16 1 1 0 0 0.319 9289 chr11 703087 703087 C T rs560710224 TMEM80 Synonymous SNV L196L 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 6.226 9290 chr2 101186088 101186088 C T rs1052117 PDCL3 Synonymous SNV F91F 0.397 0.427 0.415 158 466 164 0.405 122 88 36 27 25 19.11 9291 chr11 67164735 67164735 C T rs763475317 RAD9A Nonsynonymous SNV R244W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 9292 chr12 2062135 2062135 G A rs113147414 DCP1B Nonsynonymous SNV A324V 0.048 0.063 0.054 22 56 24 0.056 16 1 1 0 0 0.063 9293 chr2 101587455 101587455 C T rs1562313 NPAS2 Synonymous SNV Y353Y 0.15 0.156 0.184 67 176 60 0.172 54 19 6 6 7 4.203 9294 chr11 74022429 74022429 C T rs7944333 P4HA3-AS1 0.297 0.271 0.333 126 349 104 0.323 98 53 12 18 26 11.17 9295 chr11 67412771 67412771 G C rs17148450 ACY3 Synonymous SNV A171A 0.078 0.091 0.105 29 92 35 0.074 31 2 1 1 0 1.28 9296 chr11 67164791 67164791 T C rs872110 RAD9A Synonymous SNV G262G 0.074 0.068 0.065 24 87 26 0.062 19 7 2 1 0 0.002 9297 chr12 2064602 2064602 T C rs34730825 DCP1B Nonsynonymous SNV N216S 0.048 0.063 0.054 22 56 24 0.056 16 1 1 0 0 0.094 9298 chr11 74047743 74047743 T A rs36014178 PGM2L1 Nonsynonymous SNV N608I 0.106 0.086 0.068 39 124 33 0.1 20 4 0 2 2 29.7 9299 chr11 67171736 67171736 C T rs2514256 TBC1D10C Synonymous SNV S21S 0.081 0.073 0.061 24 95 28 0.062 18 7 2 1 0 12.84 9300 chr2 101591304 101591304 A G rs2305160 NPAS2 Nonsynonymous SNV T394A 0.672 0.685 0.724 272 789 263 0.697 213 266 90 74 95 0.001 9301 chr11 67174151 67174151 C T rs74706151 TBC1D10C Nonsynonymous SNV T174M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.66 9302 chr12 2064616 2064616 A G rs34175323 DCP1B Synonymous SNV R211R 0.048 0.063 0.054 22 56 24 0.056 16 1 1 0 0 6.013 9303 chr12 2064634 2064634 A G rs35252166 DCP1B Synonymous SNV S205S 0.048 0.063 0.054 22 56 24 0.056 16 1 1 0 0 8.24 9304 chr11 7060092 7060092 A G rs16921697 NLRP14 Nonsynonymous SNV K92R 0.04 0.042 0.044 17 47 16 0.044 13 3 1 0 0 13.42 9305 chr11 65386236 65386236 G C rs769149058 PCNX3 Nonsynonymous SNV R468P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.3 9306 chr11 76751587 76751587 G A rs34153015 B3GNT6 0.361 0.336 0.337 131 424 129 0.336 99 75 24 17 24 28 9307 chr12 20766559 20766559 C T rs10743380 PDE3A Synonymous SNV V76V 0.938 0.958 0.905 370 1101 368 0.949 266 515 176 120 175 10.93 9308 chr2 101624471 101624471 T C rs746924 TBC1D8 Nonsynonymous SNV R1079G 0.699 0.693 0.667 268 821 266 0.687 196 288 95 61 91 11.57 9309 chr12 20864356 20864356 C T rs7963279 SLCO1C1 Synonymous SNV S29S 0.44 0.445 0.435 169 516 171 0.433 128 106 43 24 38 14.43 9310 chr11 67176898 67176898 A G rs11227788 TBC1D10C Nonsynonymous SNV R237G 0.082 0.07 0.068 24 96 27 0.062 20 7 2 1 0 0.009 9311 chr12 20903757 20903757 T C rs10841611 SLCO1C1 Synonymous SNV H531H 0.434 0.456 0.51 178 509 175 0.456 150 109 37 38 42 0.023 9312 chr2 101638888 101638888 A G rs3739014 TBC1D8 Synonymous SNV D857D 0.701 0.693 0.667 268 823 266 0.687 196 289 95 61 91 6.051 9313 chr12 2102403 2102403 C A rs140441717 DCP1B Nonsynonymous SNV V116F 0.048 0.063 0.054 23 56 24 0.059 16 1 1 0 0 6.638 9314 chr2 101646144 101646144 G A rs3739015 TBC1D8 Synonymous SNV S662S 0.249 0.242 0.245 108 292 93 0.277 72 28 12 9 13 13.84 9315 chr11 67186271 67186271 C A rs868167 CARNS1 Nonsynonymous SNV P14T 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 24.2 9316 chr2 71838443 71838443 C T rs11558179 DYSF Synonymous SNV N1310N 0.058 0.055 0.037 29 68 21 0.074 11 2 0 1 1 Benign 12.49 9317 chr12 21176135 21176135 T C rs1546308 SLCO1B7 Nonsynonymous SNV V167A 0.967 0.943 0.942 370 1135 362 0.949 277 549 170 133 178 0.23 9318 chr2 101656726 101656726 T C rs2289953 TBC1D8 Nonsynonymous SNV T317A 0.697 0.682 0.667 265 818 262 0.679 196 287 93 62 89 0.53 9319 chr2 71838463 71838463 G T rs61742872 DYSF Nonsynonymous SNV R1317L 0.026 0.029 0.01 10 31 11 0.026 3 2 0 0 0 Benign/Likely benign 23.5 9320 chr11 67434390 67434390 C T rs141932310 ALDH3B2 Nonsynonymous SNV R6Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 4.8 9321 chr11 67188549 67188549 G A rs185303034 CARNS1 Synonymous SNV E372E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.57 9322 chr12 21201663 21201663 G A rs11045689 SLCO1B7 Nonsynonymous SNV A338T 0.553 0.529 0.622 234 649 203 0.6 183 213 65 69 69 0.036 9323 chr11 74559446 74559446 G C rs4944960 XRRA1 Nonsynonymous SNV T386R 0.181 0.208 0.218 85 213 80 0.218 64 16 7 7 12 10.81 9324 chr2 101898412 101898412 G C rs13151 RNF149 Nonsynonymous SNV D356E 0.856 0.81 0.864 319 1005 311 0.818 254 436 128 109 130 0.004 9325 chr11 67191449 67191449 T C rs1790747 CARNS1 Synonymous SNV L621L 0.084 0.076 0.068 25 99 29 0.064 20 7 2 1 0 0.095 9326 chr11 67196049 67196049 G A rs35363135 RPS6KB2 Synonymous SNV T11T 0.007 0 0 2 8 0 0.005 0 0 0 0 0 14.75 9327 chr2 71871164 71871164 T C rs150139276 DYSF Nonsynonymous SNV Y1480H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 26.3 9328 chr12 21331599 21331599 T C rs4149057 SLCO1B1 Synonymous SNV L191L 0.578 0.568 0.639 214 679 218 0.549 188 206 61 62 58 Benign 0.006 9329 chr2 101925026 101925026 T C rs11123868 RNF149 Nonsynonymous SNV S9G 0.425 0.419 0.412 168 499 161 0.431 121 109 36 22 37 0.002 9330 chr11 74559481 74559481 C T rs4944961 XRRA1 Synonymous SNV P374P 0.225 0.247 0.252 101 264 95 0.259 74 30 10 11 14 18.09 9331 chr12 21713402 21713402 T C rs2306180 GYS2 Nonsynonymous SNV M363V 0.618 0.615 0.656 250 725 236 0.641 193 229 70 66 81 Benign 2.948 9332 chr11 74563077 74563077 G A rs2304683 XRRA1 Synonymous SNV C124C 0.181 0.208 0.218 85 212 80 0.218 64 16 7 7 12 12.16 9333 chr2 102038849 102038849 T A rs4851436 RFX8 Nonsynonymous SNV Q53L 0.997 0.997 0.99 387 1170 383 0.992 291 583 191 144 192 0.533 9334 chr11 67414433 67414433 C T rs115626671 ACY3 Nonsynonymous SNV V28I 0.013 0.008 0.003 4 15 3 0.01 1 0 0 0 1 12.68 9335 chr12 21797029 21797029 A G rs1650294 LDHB Synonymous SNV T87T 0.997 0.997 0.993 389 1170 383 0.997 292 583 191 145 194 6.428 9336 chr11 74705602 74705602 G A rs7115499 NEU3 Nonsynonymous SNV R48Q 0.093 0.091 0.085 23 109 35 0.059 25 6 1 0 0 15.12 9337 chr11 67218909 67218909 A G rs949252 GPR152 Synonymous SNV A429A 0.009 0.008 0.007 5 11 3 0.013 2 0 0 1 0 0.498 9338 chr2 73226090 73226090 G A rs12233055 SFXN5 Nonsynonymous SNV P31L 0.177 0.174 0.187 64 208 67 0.164 55 22 5 6 4 12.91 9339 chr12 22063115 22063115 A G rs10770865 ABCC9 Synonymous SNV P432P 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 Benign 5.983 9340 chr11 67219002 67219002 T C rs949251 GPR152 Synonymous SNV P398P 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 0.121 9341 chr2 102955468 102955468 C A rs1041973 IL1RL1 Nonsynonymous SNV A78E 0.342 0.359 0.354 153 402 138 0.392 104 69 25 22 30 11.89 9342 chr12 22354921 22354921 A G rs704219 ST8SIA1 Synonymous SNV I69I 0.891 0.88 0.878 354 1046 338 0.908 258 471 149 113 160 7.501 9343 chr11 76919478 76919478 C A rs948962 MYO7A Nonsynonymous SNV L1954I 0.511 0.456 0.452 185 600 175 0.474 133 161 41 29 46 Benign 11.26 9344 chr11 67219119 67219119 C T rs1638558 GPR152 Synonymous SNV Q359Q 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 2.854 9345 chr12 22602796 22602796 A G rs2063573 C2CD5 Synonymous SNV D967D 0.928 0.922 0.888 356 1090 354 0.913 261 506 164 117 163 0.716 9346 chr11 74422119 74422119 A G rs193232264 CHRDL2 Synonymous SNV H4H 0.024 0.026 0.017 6 28 10 0.015 5 1 0 0 0 8.529 9347 chr2 102968007 102968007 G A rs4988956 IL1RL1 Nonsynonymous SNV A433T 0.342 0.326 0.333 155 402 125 0.397 98 71 22 18 30 13.21 9348 chr11 67219247 67219247 G C rs1638559 GPR152 Nonsynonymous SNV L317V 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 0.049 9349 chr11 76922946 76922946 G A rs11237123 MYO7A Synonymous SNV K2106K 0.285 0.242 0.238 96 335 93 0.246 70 53 8 9 10 Benign 12.45 9350 chr12 22814036 22814036 A G rs4963793 ETNK1 Synonymous SNV E199E 0.127 0.115 0.133 52 149 44 0.133 39 8 5 5 3 9.846 9351 chr11 7694002 7694002 G A rs61729556 CYB5R2 Nonsynonymous SNV P19S 0.076 0.06 0.051 22 89 23 0.056 15 2 1 0 0 15.26 9352 chr11 75133765 75133765 G A rs11539810 KLHL35 Synonymous SNV G537G 0.083 0.052 0.092 33 98 20 0.085 27 4 1 4 2 11.57 9353 chr2 102968075 102968075 T C rs4988957 IL1RL1 Synonymous SNV N455N 0.342 0.326 0.333 154 402 125 0.395 98 71 22 18 29 0.011 9354 chr12 235022 235022 C T rs12822449 IQSEC3 Nonsynonymous SNV P283S 0.99 0.987 0.915 380 1162 379 0.974 269 575 187 133 185 3.81 9355 chr11 67220004 67220004 C T rs1790756 GPR152 Synonymous SNV T64T 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 9.969 9356 chr11 74716874 74716874 A G rs147894902 NEU3 Synonymous SNV L241L 0.014 0.005 0.01 3 17 2 0.008 3 0 0 0 0 1.389 9357 chr2 102968211 102968211 C A rs10192036 IL1RL1 Nonsynonymous SNV Q501K 0.342 0.326 0.333 154 402 125 0.395 98 71 22 18 29 0.001 9358 chr11 67220175 67220175 A G rs1638560 GPR152 Synonymous SNV A7A 0.009 0.008 0.007 6 11 3 0.015 2 0 0 1 0 0.018 9359 chr11 74800380 74800380 G A rs138169747 OR2AT4 Nonsynonymous SNV R127C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.8 9360 chr12 247900 247900 G A rs7313003 IQSEC3 Synonymous SNV E154E 0.273 0.281 0.265 118 320 108 0.303 78 52 16 8 24 0.149 9361 chr11 76954788 76954788 - A rs34784710 GDPD4 Frameshift insertion I398Yfs*7 0.321 0.341 0.31 135 377 131 0.346 91 60 19 16 27 9362 chr11 67223086 67223086 C T rs1790765 CABP4 Synonymous SNV P64P 0.009 0.008 0.003 0 10 3 0 1 0 0 0 0 Benign 6.572 9363 chr2 73492614 73492614 A T rs526106 FBXO41 Nonsynonymous SNV S454T 0.308 0.305 0.347 136 362 117 0.349 102 58 18 23 27 1.221 9364 chr12 248202 248202 C G rs56204927 IQSEC3 Nonsynonymous SNV A255G 0.539 0.555 0.65 237 633 213 0.608 191 234 77 67 86 3.094 9365 chr11 71668305 71668305 A G rs61749189 RNF121 Synonymous SNV Q32Q 0.019 0.008 0.014 14 22 3 0.036 4 1 0 0 1 5.552 9366 chr11 76954812 76954812 T C rs11237145 GDPD4 Nonsynonymous SNV I390V 0.32 0.341 0.31 135 376 131 0.346 91 60 19 16 27 0.001 9367 chr2 102968212 102968212 A G rs10204137 IL1RL1 Nonsynonymous SNV Q501R 0.342 0.326 0.333 154 402 125 0.395 98 71 22 18 29 0.001 9368 chr11 67809268 67809268 C T rs36027301 TCIRG1 Nonsynonymous SNV R56W 0.069 0.055 0.112 21 81 21 0.054 33 4 2 2 1 Benign/Likely benign 34 9369 chr11 71718315 71718315 C T rs61744204 NUMA1 Nonsynonymous SNV D1781N 0.018 0.008 0.014 14 21 3 0.036 4 1 0 0 1 Benign 24.7 9370 chr12 250130 250130 T C rs12321262 LOC574538 0 0 0.643 0 0 0 0 189 0 0 67 0 4.611 9371 chr2 73613032 73613037 GGAGGA - rs61156725 ALMS1 E27_E28del 0.279 0.292 0.027 91 328 112 0.233 8 54 19 3 11 9372 chr12 25148755 25148755 C G rs864161 C12orf77 Nonsynonymous SNV L131F 0.952 0.935 0.935 366 1118 359 0.938 275 532 167 137 171 0.001 9373 chr11 76954833 76954833 G A rs11237146 GDPD4 Nonsynonymous SNV H383Y 0.302 0.336 0.303 131 355 129 0.336 89 50 19 16 24 24.3 9374 chr2 102968285 102968285 T C rs4988958 IL1RL1 Synonymous SNV S525S 0.342 0.326 0.333 153 402 125 0.392 98 71 22 18 29 0.684 9375 chr2 73613037 73613037 - GGAGGA ALMS1 E28_A29insEE 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 9376 chr2 73651967 73651967 C T rs3813227 ALMS1 Nonsynonymous SNV R392C 0.229 0.247 0.17 75 269 95 0.192 50 32 11 4 4 Benign 0.092 9377 chr11 75141449 75141474 CGGGCCGCCCGGCCGCGAACAAGCTG - rs756778027 KLHL35 S68Afs*121 0.009 0.018 0.003 4 11 7 0.01 1 0 0 0 0 9378 chr2 102968356 102968356 C T rs10192157 IL1RL1 Nonsynonymous SNV T549I 0.336 0.313 0.333 154 395 120 0.395 98 71 22 18 30 8.475 9379 chr12 25242595 25242595 C G rs7969931 LRMP Nonsynonymous SNV L141V 0.819 0.771 0.84 325 961 296 0.833 247 400 116 106 134 12.75 9380 chr11 771034 771034 A G rs7930569 GATD1 Synonymous SNV T119T 0.433 0.427 0.429 167 508 164 0.428 126 114 42 31 32 0.069 9381 chr11 71941212 71941212 A G rs2276048 INPPL1 Synonymous SNV S329S 0.179 0.172 0.194 61 210 66 0.156 57 16 7 1 6 0.127 9382 chr12 25261735 25261735 G T rs859146 CASC1 Nonsynonymous SNV A468E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.012 9383 chr2 102968362 102968362 T C rs10206753 IL1RL1 Nonsynonymous SNV L551S 0.336 0.313 0.333 153 394 120 0.392 98 71 22 18 30 15.06 9384 chr12 25368462 25368462 C T rs4362222 KRAS Synonymous SNV R161R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 14.97 9385 chr2 103095531 103095531 T C rs61731286 SLC9A4 Synonymous SNV L164L 0.098 0.115 0.112 41 115 44 0.105 33 4 4 1 2 0.002 9386 chr12 2558186 2558186 G A rs1544514 CACNA1C Synonymous SNV A174A 0.242 0.219 0.214 89 284 84 0.228 63 38 12 6 15 Benign 12.94 9387 chr2 103149100 103149100 G A rs1014286 SLC9A4 Nonsynonymous SNV G784S 0.658 0.682 0.653 230 773 262 0.59 192 257 87 66 60 0.071 9388 chr12 25671759 25671759 T A rs1479500 LMNTD1 Nonsynonymous SNV T303S 0.81 0.802 0.823 308 951 308 0.79 242 387 122 100 119 0.004 9389 chr11 772490 772490 G A rs12224894 GATD1 Synonymous SNV A43A 0.409 0.411 0.408 160 480 158 0.41 120 95 39 29 28 8.203 9390 chr2 73677548 73677548 A G rs112034360 ALMS1 Synonymous SNV Q1297Q 0.037 0.029 0.024 15 44 11 0.038 7 2 0 0 0 Benign 0.681 9391 chr12 26784850 26784850 G A rs2230372 ITPR2 Synonymous SNV H961H 0.557 0.565 0.626 232 654 217 0.595 184 176 66 57 71 0.516 9392 chr11 7726159 7726159 G A rs762717528 OVCH2 Nonsynonymous SNV R51C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.1 9393 chr2 103431404 103431404 T C rs887987 TMEM182 Nonsynonymous SNV W81R 0.978 0.977 0.98 382 1148 375 0.979 288 561 183 141 187 8.348 9394 chr2 73677833 73677833 A G rs6546836 ALMS1 Synonymous SNV Q1392Q 0.233 0.25 0.173 79 274 96 0.203 51 31 11 4 5 Benign 1.775 9395 chr12 26809316 26809316 G A rs2230379 ITPR2 Synonymous SNV H786H 0.166 0.203 0.19 69 195 78 0.177 56 17 6 5 12 12.39 9396 chr11 67397251 67397251 G C rs17851655 NUDT8 Synonymous SNV V44V 0.095 0.112 0.048 42 111 43 0.108 14 5 3 1 3 8.836 9397 chr12 26810777 26810777 T C rs2291264 ITPR2 Synonymous SNV S685S 0.309 0.339 0.303 133 363 130 0.341 89 62 22 12 28 0.015 9398 chr2 73677898 73677898 G C rs6546837 ALMS1 Nonsynonymous SNV G1414A 0.234 0.25 0.173 79 275 96 0.203 51 32 11 4 5 Benign 0.002 9399 chr2 105665808 105665808 C T rs11538197 MRPS9 Synonymous SNV D105D 0.239 0.203 0.224 102 281 78 0.262 66 46 12 8 21 5.868 9400 chr11 72301503 72301503 G A rs341047 PDE2A Nonsynonymous SNV T217I 0.096 0.089 0.092 38 113 34 0.097 27 3 0 1 2 9.634 9401 chr12 26810816 26810816 T G rs2291263 ITPR2 Synonymous SNV S672S 0.166 0.203 0.187 69 195 78 0.177 55 17 6 5 12 3.473 9402 chr2 105705507 105705507 C T rs11538198 MRPS9 Synonymous SNV L185L 0.277 0.237 0.214 117 325 91 0.3 63 45 12 8 21 9.035 9403 chr12 27143508 27143508 G A rs10771314 TM7SF3 Nonsynonymous SNV P248L 0.06 0.099 0.068 18 71 38 0.046 20 3 1 1 1 15.01 9404 chr2 73679280 73679280 A G rs6546838 ALMS1 Nonsynonymous SNV I1875V 0.236 0.25 0.173 81 277 96 0.208 51 32 11 4 5 Benign 0.001 9405 chr11 7727886 7727886 C T rs7927138 OVCH2 Nonsynonymous SNV R19Q 0.35 0.357 0.398 146 411 137 0.374 117 78 23 20 27 0.041 9406 chr2 105709023 105709023 T C rs6543282 MRPS9 Synonymous SNV S272S 0.981 0.99 0.983 382 1152 380 0.979 289 565 188 142 187 0.074 9407 chr12 274647 274647 T C rs4980859 IQSEC3 Synonymous SNV F616F 0.342 0.315 0.259 130 401 121 0.333 76 63 15 11 25 14.91 9408 chr2 105713697 105713697 A G rs15567 MRPS9 Synonymous SNV S338S 0.278 0.24 0.238 117 326 92 0.3 70 45 12 9 21 15.08 9409 chr2 73679990 73679990 T A rs6724782 ALMS1 Nonsynonymous SNV S2111R 0.233 0.25 0.173 79 274 96 0.203 51 32 11 4 5 Benign 0.005 9410 chr11 77378448 77378448 C T rs11607608 RSF1 Synonymous SNV E1280E 0.009 0.008 0.01 0 11 3 0 3 0 0 1 0 7.982 9411 chr12 27470866 27470866 G A rs6487601 STK38L Synonymous SNV T331T 0.988 0.982 0.973 381 1160 377 0.977 286 573 185 139 186 14.8 9412 chr2 105859249 105859249 C T rs35946826 GPR45 Nonsynonymous SNV L312F 0.193 0.206 0.201 78 227 79 0.2 59 23 10 9 3 23.5 9413 chr12 27627805 27627805 G A rs411816 SMCO2 Synonymous SNV A107A 0.825 0.849 0.901 333 968 326 0.854 265 399 135 119 141 4.845 9414 chr11 75905800 75905800 G A rs1533767 WNT11 Synonymous SNV P136P 0.154 0.143 0.17 64 181 55 0.164 50 35 9 6 11 8.78 9415 chr12 27849795 27849795 C T rs929948 REP15 Synonymous SNV S100S 0.666 0.667 0.697 253 782 256 0.649 205 257 90 67 83 13.18 9416 chr2 73680508 73680508 G C rs6546839 ALMS1 Nonsynonymous SNV R2284P 0.23 0.25 0.173 79 270 96 0.203 51 32 11 4 5 Benign 17.18 9417 chr11 65639730 65639730 C A rs1011011078 EFEMP2 Nonsynonymous SNV E32D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.9 9418 chr12 27849796 27849796 A G rs929949 REP15 Nonsynonymous SNV N101D 0.995 1 0.997 389 1168 384 0.997 293 581 192 146 194 13.98 9419 chr2 105885961 105885961 T C rs2241797 TGFBRAP1 Nonsynonymous SNV H725R 0.641 0.672 0.629 249 753 258 0.638 185 246 80 59 78 0.001 9420 chr2 73717567 73717567 G T rs2056486 ALMS1 Nonsynonymous SNV R2826S 0.23 0.25 0.17 77 270 96 0.197 50 32 11 4 4 Benign 0.291 9421 chr11 76255815 76255815 C G rs35962163 EMSY Synonymous SNV P1075P 0.026 0.026 0.034 11 30 10 0.028 10 1 0 0 1 6.49 9422 chr12 2788879 2788879 G A rs1051375 CACNA1C Synonymous SNV T1795T 0.65 0.638 0.605 234 763 245 0.6 178 250 75 50 72 Benign 8.245 9423 chr2 107450525 107450525 T C rs12615112 ST6GAL2 Nonsynonymous SNV I341V 0.079 0.06 0.082 42 93 23 0.108 24 5 3 0 4 0.006 9424 chr12 27915718 27915718 A T rs10842975 MANSC4 Nonsynonymous SNV S326T 0.549 0.518 0.548 206 644 199 0.528 161 174 47 45 59 0.485 9425 chr2 73717656 73717656 A G rs10193972 ALMS1 Nonsynonymous SNV N2856S 0.23 0.25 0.17 77 270 96 0.197 50 32 11 4 4 Benign 0.009 9426 chr11 77884782 77884782 C T rs230661 KCTD21-AS1 0.576 0.615 0.558 206 676 236 0.528 164 207 78 51 55 10.32 9427 chr2 107450589 107450589 C T rs3796111 ST6GAL2 Synonymous SNV A319A 0.141 0.107 0.143 64 165 41 0.164 42 12 5 2 7 19.46 9428 chr12 284058 284058 T C rs216230 IQSEC3 Synonymous SNV G1136G 0.922 0.951 0.871 365 1083 365 0.936 256 497 175 118 170 0.005 9429 chr11 77909014 77909014 G A rs2510044 USP35 Nonsynonymous SNV V236M 0.15 0.133 0.197 60 176 51 0.154 58 16 1 6 6 23.2 9430 chr2 73746923 73746923 C T rs11884776 ALMS1 Synonymous SNV T3186T 0.216 0.232 0.133 71 253 89 0.182 39 26 10 4 4 Benign 8.206 9431 chr12 28412372 28412372 G A rs11049488 CCDC91 Nonsynonymous SNV A36T 0.282 0.294 0.224 125 331 113 0.321 66 49 19 6 22 11.08 9432 chr11 67926093 67926093 C T rs113932704 KMT5B Nonsynonymous SNV D402N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.95 9433 chr2 108608648 108608648 A G rs1013940 SLC5A7 Nonsynonymous SNV I89V 0.058 0.073 0.044 29 68 28 0.074 13 1 1 0 1 Benign 8.382 9434 chr11 68512543 68512543 A G rs12365708 TESMIN Nonsynonymous SNV C223R 0.108 0.148 0.095 53 127 57 0.136 28 6 1 1 6 21.8 9435 chr11 7656809 7656809 G A rs11041490 PPFIBP2 Synonymous SNV P264P 0.115 0.128 0.146 43 135 49 0.11 43 9 7 1 3 8.319 9436 chr11 77920563 77920563 G T rs2510045 USP35 Synonymous SNV P554P 0.169 0.151 0.221 68 198 58 0.174 65 20 1 7 6 2.926 9437 chr12 29423460 29423460 G A rs2216854 FAR2 Synonymous SNV L26L 0.305 0.292 0.286 108 358 112 0.277 84 60 18 11 15 0.458 9438 chr2 108863661 108863661 T C rs145344319 SULT1C3 Nonsynonymous SNV I4T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.001 9439 chr12 29604392 29604392 C G rs1347570 OVCH1 Nonsynonymous SNV A916P 0.566 0.578 0.493 263 665 222 0.674 145 202 68 38 92 6.72 9440 chr11 77920808 77920808 G A rs75766028 USP35 Nonsynonymous SNV G636D 0.019 0.034 0.024 6 22 13 0.015 7 0 0 0 0 7.515 9441 chr11 68560787 68560787 C T rs2229737 CPT1A Synonymous SNV E321E 0.105 0.141 0.085 55 123 54 0.141 25 7 1 0 9 Benign 16.99 9442 chr12 29628016 29628016 G A rs2043623 OVCH1 Synonymous SNV A561A 0.551 0.557 0.473 254 647 214 0.651 139 190 62 33 85 3.952 9443 chr2 108863767 108863767 A C rs9308806 SULT1C3 Synonymous SNV V39V 0.703 0.674 0.731 273 825 259 0.7 215 285 81 80 95 0.016 9444 chr2 74450058 74450058 C T rs36081793 SLC4A5 Nonsynonymous SNV V1106I 0.043 0.052 0.034 24 50 20 0.062 10 2 1 0 1 16.82 9445 chr11 77920809 77920809 C A rs77171344 USP35 Synonymous SNV G636G 0.019 0.031 0.024 6 22 12 0.015 7 0 0 0 0 10.75 9446 chr12 29630081 29630081 G A rs7975356 OVCH1 Nonsynonymous SNV T479I 0.86 0.87 0.898 316 1010 334 0.81 264 438 142 120 130 0.017 9447 chr2 108875198 108875198 G A rs2219078 SULT1C3 Nonsynonymous SNV G179R 0.258 0.237 0.211 112 303 91 0.287 62 47 10 7 18 25.7 9448 chr11 77920863 77920863 C A rs2512527 USP35 Synonymous SNV P654P 0.163 0.159 0.194 70 191 61 0.179 57 16 1 6 5 9.627 9449 chr2 74466594 74466594 G A rs4853018 SLC4A5 Synonymous SNV G729G 0.386 0.385 0.344 156 453 148 0.4 101 82 24 17 34 12.75 9450 chr12 2964564 2964564 G A rs143773453 TEX52 Nonsynonymous SNV R41C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 9451 chr11 77920930 77920930 A G rs2511188 USP35 Nonsynonymous SNV I677V 0.23 0.224 0.255 88 270 86 0.226 75 36 6 8 9 0.008 9452 chr11 65686473 65686473 C A rs554169857 C11orf68 Synonymous SNV A10A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 1 19.24 9453 chr2 108875244 108875244 T C rs6722745 SULT1C3 Nonsynonymous SNV M194T 0.346 0.32 0.33 142 406 123 0.364 97 85 20 18 24 0.001 9454 chr2 74489323 74489323 C T rs17009792 SLC4A5 Nonsynonymous SNV S251N 0.052 0.039 0.044 24 61 15 0.062 13 2 0 0 1 2.685 9455 chr12 2968458 2968458 T C rs2215292 FOXM1 Synonymous SNV R531R 0.978 0.977 0.993 380 1148 375 0.974 292 561 183 145 185 6.952 9456 chr11 77921348 77921348 G A rs75370284 USP35 Nonsynonymous SNV R816H 0.016 0.023 0.024 5 19 9 0.013 7 0 0 0 0 29.1 9457 chr12 2973615 2973615 T C rs2072360 FOXM1 Synonymous SNV V364V 0.146 0.133 0.146 47 171 51 0.121 43 11 1 5 4 7.432 9458 chr2 74643215 74643215 C T rs61999261 C2orf81 Nonsynonymous SNV D61N 0.029 0.021 0.017 14 34 8 0.036 5 0 0 1 1 29.9 9459 chr2 108875465 108875486 AAACTTGGTCAGGTGATGTTAT - rs149535765 SULT1C3 W224Rfs*10 0.319 0.328 0.35 112 375 126 0.287 103 66 27 23 14 9460 chr2 108875471 108875471 G T rs13385082 SULT1C3 Nonsynonymous SNV W224L 0.342 0.32 0.316 142 402 123 0.364 93 84 20 17 24 6.524 9461 chr12 29936613 29936613 T G rs184221 TMTC1 Synonymous SNV L24L 0.947 0.924 0.782 358 1112 355 0.918 230 535 170 113 169 4.938 9462 chr11 69063476 69063476 C T rs116926312 MYEOV Nonsynonymous SNV R129W 0.017 0.029 0.031 7 20 11 0.018 9 0 0 0 0 0.004 9463 chr12 2997397 2997397 G A rs2907608 RHNO1 Synonymous SNV S163S 0.35 0.333 0.354 141 411 128 0.362 104 73 19 18 29 8.59 9464 chr2 108877062 108877062 T A rs4141932 SULT1C3 Nonsynonymous SNV L281M 0.664 0.651 0.684 253 780 250 0.649 201 256 76 70 81 11.36 9465 chr12 3046802 3046802 A G rs33973716 TULP3 Synonymous SNV T310T 0.172 0.18 0.177 59 202 69 0.151 52 13 6 5 3 0.003 9466 chr11 77930345 77930345 T C rs2450122 GAB2 Synonymous SNV S630S 0.17 0.148 0.228 70 199 57 0.179 67 20 1 7 6 5.337 9467 chr12 3049698 3049698 T C rs998814 TULP3 Nonsynonymous SNV C438R 0.178 0.18 0.197 59 209 69 0.151 58 13 6 6 3 0.003 9468 chr2 108994808 108994808 C G rs1402467 SULT1C4 Nonsynonymous SNV D5E 0.24 0.258 0.235 113 282 99 0.29 69 36 18 9 17 0.014 9469 chr11 77936166 77936166 A G rs1385600 GAB2 Synonymous SNV V392V 0.169 0.154 0.228 68 198 59 0.174 67 20 1 7 6 8.003 9470 chr12 30823971 30823971 A G rs1054426 IPO8 Synonymous SNV L118L 0.46 0.424 0.51 185 540 163 0.474 150 125 31 33 45 7.973 9471 chr11 76834887 76834887 C A rs111264315 CAPN5 Nonsynonymous SNV L632I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 2.261 9472 chr11 77937800 77937800 G A rs2248407 GAB2 Synonymous SNV F268F 0.166 0.148 0.224 67 195 57 0.172 66 19 1 7 6 5.46 9473 chr2 109086594 109086594 T G GCC2 Nonsynonymous SNV I270R 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 0.158 9474 chr12 30868002 30868002 C T rs13656 CAPRIN2 Synonymous SNV V791V 0.587 0.604 0.619 256 689 232 0.656 182 197 67 52 85 14.28 9475 chr11 74109166 74109166 A G rs12049823 PGM2L1 Nonsynonymous SNV L14P 0.101 0.13 0.078 49 118 50 0.126 23 4 2 1 3 18.21 9476 chr2 75185876 75185876 G A rs779000499 POLE4 Nonsynonymous SNV A24T 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 13.25 9477 chr12 30877343 30877343 T C rs142063052 CAPRIN2 Nonsynonymous SNV T317A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.96 9478 chr11 68665480 68665480 T C rs117105758 MRPL21 Synonymous SNV G49G 0.016 0.021 0.02 9 19 8 0.023 6 1 0 0 0 10.12 9479 chr2 109099572 109099572 C G rs2718698 GCC2 Nonsynonymous SNV Q1134E 0.99 0.995 0.932 388 1162 382 0.995 274 575 190 136 193 14.77 9480 chr11 78279790 78279790 T G rs10501429 NARS2 Nonsynonymous SNV N87T 0.765 0.753 0.68 294 898 289 0.754 200 342 105 74 111 Benign 7.196 9481 chr12 30881809 30881809 T C rs2304630 CAPRIN2 Nonsynonymous SNV M186V 0.583 0.604 0.619 253 685 232 0.649 182 196 68 52 83 0.001 9482 chr11 76868372 76868372 T C rs762667 MYO7A Synonymous SNV G261G 0.323 0.268 0.35 112 379 103 0.287 103 71 13 14 17 Benign 7.857 9483 chr2 109106381 109106381 A G rs12104502 GCC2 Synonymous SNV Q1380Q 0.359 0.385 0.364 148 421 148 0.379 107 72 30 15 21 1.997 9484 chr11 78282425 78282425 G C rs149009700 NARS2 Nonsynonymous SNV S69C 0.003 0.003 0.007 0 3 1 0 2 0 0 1 0 13.02 9485 chr12 31135478 31135478 T C rs35089 TSPAN11 Synonymous SNV C146C 0.919 0.93 0.942 351 1079 357 0.9 277 493 166 130 158 0.033 9486 chr2 109389463 109389463 G A rs826580 RANBP2 Synonymous SNV E2751E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.81 9487 chr11 74208878 74208878 G A rs79509943 LOC100287896 Nonsynonymous SNV D310N 0.077 0.06 0.058 47 90 23 0.121 17 2 0 0 1 3.264 9488 chr12 311949 311949 A G rs216250 SLC6A12 Synonymous SNV T149T 0.457 0.453 0.49 180 537 174 0.462 144 121 38 33 35 9.561 9489 chr2 109429146 109429146 T A rs975597 CCDC138 Synonymous SNV A300A 0.709 0.724 0.69 269 832 278 0.69 203 295 103 73 91 9.568 9490 chr11 74347244 74347244 C T rs35745457 POLD3 Synonymous SNV S335S 0.01 0.003 0.017 3 12 1 0.008 5 0 0 1 0 14.87 9491 chr2 79385786 79385786 T C rs76653007 REG3A Synonymous SNV T62T 0.296 0.315 0.313 111 348 121 0.285 92 0 0 0 0 Likely benign 0.006 9492 chr12 31648826 31648826 C T rs4930979 DENND5B Nonsynonymous SNV R52K 0.42 0.435 0.459 188 493 167 0.482 135 96 40 31 46 17.59 9493 chr11 78443586 78443586 G A rs17826919 TENM4 Synonymous SNV I971I 0.242 0.25 0.224 83 284 96 0.213 66 43 14 6 12 13.25 9494 chr11 74413843 74413843 T C rs34695217 CHRDL2 Synonymous SNV V307V 0.022 0.047 0.017 15 26 18 0.038 5 1 0 0 1 4.879 9495 chr2 79385787 79385787 G A rs77686105 REG3A Nonsynonymous SNV T62I 0.296 0.315 0.313 110 348 121 0.282 92 0 0 0 0 0.002 9496 chr2 109513654 109513654 G A rs12623957 EDAR Synonymous SNV C352C 0.829 0.844 0.803 306 973 324 0.785 236 407 135 97 121 Benign 1.022 9497 chr12 32134240 32134240 C T rs2388982 RESF1 Synonymous SNV N117N 0.687 0.682 0.697 253 806 262 0.649 205 273 92 73 81 12.22 9498 chr2 109526969 109526969 G A rs260632 EDAR Synonymous SNV S250S 0.94 0.969 0.929 362 1103 372 0.928 273 517 180 127 169 Benign 10.76 9499 chr11 76916645 76916645 G A rs45450893 MYO7A Synonymous SNV R1873R 0.012 0.013 0.01 3 14 5 0.008 3 0 0 0 0 Benign/Likely benign 12.44 9500 chr2 80529956 80529956 T C rs6733871 LRRTM1 Nonsynonymous SNV N330S 0.206 0.206 0.19 73 242 79 0.187 56 38 6 10 10 0.595 9501 chr12 32134638 32134638 T C rs2166807 RESF1 Nonsynonymous SNV L250P 0.814 0.807 0.796 299 956 310 0.767 234 391 126 92 115 0.211 9502 chr2 109746039 109746039 G A rs34609468 SH3RF3 Nonsynonymous SNV A15T 0.273 0.305 0.269 105 321 117 0.269 79 46 21 13 11 23.4 9503 chr12 32134926 32134926 G A rs3207618 RESF1 Nonsynonymous SNV S346N 0.126 0.122 0.102 47 148 47 0.121 30 8 3 0 2 9.158 9504 chr11 78780837 78780837 G A rs61745036 TENM4 Synonymous SNV D51D 0.043 0.06 0.051 15 50 23 0.038 15 0 1 0 1 12.25 9505 chr2 80801346 80801346 T C rs2228460 CTNNA2 Synonymous SNV V279V 0.324 0.292 0.364 122 380 112 0.313 107 58 15 15 18 5.211 9506 chr2 110372192 110372192 A G rs6594048 SOWAHC Synonymous SNV L42L 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 0.243 9507 chr12 32135441 32135441 T C rs3759301 RESF1 Nonsynonymous SNV S518P 0.919 0.911 0.915 353 1079 350 0.905 269 497 160 122 158 5.36 9508 chr2 110922703 110922703 C T rs11675767 NPHP1 Synonymous SNV E156E 0.336 0.37 0.398 127 394 142 0.326 117 62 25 27 21 Benign 9.839 9509 chr2 111907691 111907691 T C rs724710 BCL2L11 Synonymous SNV I65I 0.577 0.596 0.544 209 677 229 0.536 160 192 60 48 55 8.099 9510 chr12 32886672 32886672 A G rs79393011 DNM1L Synonymous SNV E287E 0.018 0.023 0.031 5 21 9 0.013 9 1 0 0 0 Benign/Likely benign 8.251 9511 chr11 74618265 74618265 G A rs61736355 XRRA1 Nonsynonymous SNV A229V 0.066 0.073 0.075 36 77 28 0.092 22 2 1 0 2 23.7 9512 chr12 32977026 32977026 C T rs146102241 PKP2 Nonsynonymous SNV V543I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26 9513 chr2 112656372 112656372 A T rs35898499 MERTK Nonsynonymous SNV R20S 0.071 0.094 0.071 36 83 36 0.092 21 3 2 0 2 Benign/Likely benign 9.896 9514 chr12 33021934 33021934 A G rs1046116 PKP2 Nonsynonymous SNV L366P 0.215 0.221 0.282 85 252 85 0.218 83 25 7 13 11 Benign 3.732 9515 chr2 112686988 112686988 G A rs13027171 MERTK Nonsynonymous SNV S118N 0.321 0.281 0.262 122 377 108 0.313 77 65 18 8 20 Benign 0.006 9516 chr12 33049457 33049457 C A rs75909145 PKP2 Nonsynonymous SNV S70I 0.024 0.023 0.031 8 28 9 0.021 9 0 0 0 0 Benign 23 9517 chr11 7950024 7950024 A G rs12272735 OR10A6 Synonymous SNV F62F 0.292 0.302 0.337 125 343 116 0.321 99 48 13 13 16 0.006 9518 chr2 112751928 112751928 G A rs7604639 MERTK Nonsynonymous SNV R466K 0.604 0.557 0.537 241 709 214 0.618 158 219 61 38 76 Benign 0.005 9519 chr11 7981521 7981521 C T rs11608118 NLRP10 Synonymous SNV K546K 0.112 0.122 0.078 45 132 47 0.115 23 4 0 0 2 11.45 9520 chr12 33538179 33538179 C T rs11052670 SYT10 Synonymous SNV P375P 0.045 0.044 0.065 19 53 17 0.049 19 5 0 1 0 15.36 9521 chr12 3387697 3387697 T C rs16930370 TSPAN9 Synonymous SNV I58I 0.238 0.24 0.218 84 279 92 0.215 64 27 11 5 10 1.953 9522 chr11 7982094 7982094 G A rs12363522 NLRP10 Synonymous SNV G355G 0.104 0.094 0.061 31 122 36 0.079 18 9 2 1 2 0.895 9523 chr11 69063572 69063572 A G rs17856376 MYEOV Nonsynonymous SNV M161V 0.064 0.078 0.075 23 75 30 0.059 22 1 2 0 0 0.002 9524 chr2 112754943 112754943 C T rs3811634 MERTK Synonymous SNV N498N 0.323 0.286 0.259 122 379 110 0.313 76 66 19 7 20 Benign 15.37 9525 chr12 3389601 3389601 C T rs66501720 TSPAN9 Synonymous SNV T128T 0.121 0.135 0.105 31 142 52 0.079 31 9 1 0 1 14.09 9526 chr2 85549874 85549874 A G rs3637 TGOLN2 Nonsynonymous SNV F439S 0.443 0.448 0.459 168 520 172 0.431 135 112 32 30 40 19.53 9527 chr12 3409149 3409149 G A rs55979725 LOC100128253 0 0 0.187 0 0 0 0 55 0 0 4 0 5.533 9528 chr12 3409277 3409277 C T rs7306401 LOC100128253 0 0 0.997 0 0 0 0 293 0 0 146 0 8.999 9529 chr2 112755001 112755001 A G rs2230515 MERTK Nonsynonymous SNV I518V 0.603 0.56 0.537 241 708 215 0.618 158 219 62 38 76 Benign 0.002 9530 chr12 3701464 3701464 G A rs34000611 PRMT8 Synonymous SNV R340R 0.119 0.125 0.143 49 140 48 0.126 42 5 4 5 5 12.16 9531 chr12 3724583 3724583 T C rs11062745 CRACR2A Nonsynonymous SNV T712A 0.095 0.091 0.051 32 112 35 0.082 15 6 3 0 1 17.5 9532 chr11 803401 803401 G A rs61740131 PIDD1 Nonsynonymous SNV S161F 0.002 0.01 0 4 2 4 0.01 0 0 0 0 0 24.3 9533 chr11 77790655 77790655 G C rs8875 NDUFC2, NDUFC2-KCTD14 Nonsynonymous SNV L46V 0.233 0.224 0.187 65 274 86 0.167 55 44 15 7 8 0.002 9534 chr11 6913243 6913243 T C rs1965207 OR2D2 Nonsynonymous SNV I163M 0.145 0.185 0.153 65 170 71 0.167 45 10 5 2 7 2.021 9535 chr11 70281845 70281845 G A rs77162934 CTTN Synonymous SNV R591R 0.06 0.055 0.034 16 71 21 0.041 10 2 0 1 0 3.029 9536 chr2 112765973 112765973 A G rs1131244 MERTK Synonymous SNV S627S 0.603 0.552 0.534 239 708 212 0.613 157 218 61 37 74 Benign 0.148 9537 chr12 39087609 39087609 G A rs3759139 CPNE8 Synonymous SNV Y331Y 0.461 0.484 0.466 176 541 186 0.451 137 123 48 29 40 7.579 9538 chr11 77301341 77301341 G A rs2276415 AQP11 Nonsynonymous SNV G102S 0.062 0.065 0.051 28 73 25 0.072 15 3 2 2 0 23 9539 chr2 112832536 112832538 AAT - rs71385858 TMEM87B M167del 0.457 0.461 0.255 181 537 177 0.464 75 134 50 16 43 9540 chr11 77825320 77825320 T C rs665278 ALG8 Nonsynonymous SNV N222S 0.268 0.271 0.207 77 315 104 0.197 61 43 14 7 5 Benign/Likely benign 0.993 9541 chr12 40499347 40499347 G A rs7305377 SLC2A13 Synonymous SNV S88S 0.131 0.156 0.126 49 154 60 0.126 37 11 5 0 2 15.84 9542 chr2 113067622 113067622 A G rs79245040 ZC3H6 Nonsynonymous SNV D166G 0.042 0.042 0.034 14 49 16 0.036 10 0 0 0 0 22.3 9543 chr11 823729 823729 C T rs56152088 PNPLA2 Nonsynonymous SNV P265S 0.013 0.018 0.01 8 15 7 0.021 3 0 0 0 0 Benign/Likely benign 9.294 9544 chr11 77378388 77378388 T C rs4945197 RSF1 Synonymous SNV L1300L 0.065 0.068 0.058 33 76 26 0.085 17 4 2 2 1 0.125 9545 chr12 40619082 40619082 G A rs2256408 LRRK2 Nonsynonymous SNV R50H 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 13.86 9546 chr2 85629256 85629256 T C rs113987685 CAPG Nonsynonymous SNV I5V 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 1.692 9547 chr11 77378505 77378505 A G rs28930682 RSF1 Synonymous SNV D1261D 0.065 0.068 0.058 33 76 26 0.085 17 4 2 2 1 0.169 9548 chr2 113089267 113089267 T C rs7601200 ZC3H6 Synonymous SNV N924N 0.507 0.516 0.548 198 595 198 0.508 161 155 53 44 55 0.003 9549 chr12 40631791 40631791 T C rs10878245 LRRK2 Synonymous SNV L153L 0.463 0.445 0.5 198 544 171 0.508 147 129 41 38 54 Benign 7.058 9550 chr11 77409568 77409568 T C rs4945203 RSF1 Synonymous SNV P893P 0.065 0.068 0.058 33 76 26 0.085 17 4 2 2 1 7.448 9551 chr2 113090047 113090047 T C rs4578863 ZC3H6 Synonymous SNV T1184T 0.507 0.516 0.548 198 595 198 0.508 161 155 53 44 55 0.007 9552 chr12 40671989 40671989 A G rs10878307 LRRK2 Nonsynonymous SNV I723V 0.096 0.122 0.105 33 113 47 0.085 31 7 2 1 5 Benign 5.489 9553 chr11 7060948 7060948 C T rs117823353 NLRP14 Nonsynonymous SNV S98L 0.025 0.034 0.027 10 29 13 0.026 8 0 0 0 0 2.972 9554 chr2 113308516 113308516 T A rs2304555 POLR1B Synonymous SNV T22T 0.773 0.815 0.748 292 908 313 0.749 220 355 133 78 104 14.18 9555 chr11 7817538 7817538 T C rs7949771 OR5P2 Nonsynonymous SNV N318D 0.204 0.255 0.167 75 240 98 0.192 49 26 11 7 11 0.004 9556 chr2 113309473 113309473 C T rs1545133 POLR1B Nonsynonymous SNV S84L 0.643 0.706 0.629 244 755 271 0.626 185 243 101 54 70 12.06 9557 chr11 69462856 69462856 C T rs3862792 CCND1 Synonymous SNV F223F 0.059 0.083 0.058 35 69 32 0.09 17 2 3 1 2 17.61 9558 chr12 40757330 40757330 A G rs33962975 LRRK2 Synonymous SNV G2385G 0.107 0.125 0.088 45 126 48 0.115 26 4 2 0 2 Benign 4.347 9559 chr11 7817665 7817665 T C rs72484720 OR5P2 Synonymous SNV T275T 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 0.078 9560 chr11 69490001 69490001 C T rs56107468 LTO1 Nonsynonymous SNV G3S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.571 9561 chr12 41582590 41582590 G C rs10879830 PDZRN4 Synonymous SNV R111R 0.66 0.651 0.592 295 775 250 0.756 174 276 84 60 114 6.133 9562 chr11 7064457 7064457 T C rs76429148 NLRP14 Synonymous SNV F400F 0.025 0.034 0.031 10 29 13 0.026 9 0 0 0 0 4.103 9563 chr11 7817852 7817852 C G rs76615008 OR5P2 Nonsynonymous SNV C213S 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 5.332 9564 chr2 113325679 113325679 T C rs34051897 POLR1B Synonymous SNV L417L 0.026 0.013 0.014 5 30 5 0.013 4 0 0 0 0 6.021 9565 chr12 41582603 41582603 G C rs10879831 PDZRN4 Nonsynonymous SNV G116R 0.586 0.591 0.537 269 688 227 0.69 158 233 74 52 99 10.11 9566 chr11 77583266 77583266 G A rs2186564 AAMDC Nonsynonymous SNV V111M 0.072 0.068 0.068 32 85 26 0.082 20 4 2 2 1 31 9567 chr2 113404708 113404708 G A rs4849091 SLC20A1 Synonymous SNV L101L 0.566 0.549 0.571 232 664 211 0.595 168 194 53 49 65 4.197 9568 chr11 7083610 7083610 T A rs117124176 NLRP14 Nonsynonymous SNV S951T 0.025 0.034 0.027 11 29 13 0.028 8 0 0 0 0 23.9 9569 chr12 42839836 42839836 A C rs1669885 PPHLN1 Nonsynonymous SNV Q270P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.16 9570 chr11 7817856 7817856 C T rs78460198 OR5P2 Nonsynonymous SNV V212I 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 0.001 9571 chr2 113479614 113479614 G A rs13386452 NT5DC4 Nonsynonymous SNV R46H 0.595 0.57 0.585 215 699 219 0.551 172 197 58 50 61 0.018 9572 chr11 824805 824805 C T rs1138694 PNPLA2 Synonymous SNV P486P 0.13 0.112 0.088 53 153 43 0.136 26 7 1 1 4 Benign 6.771 9573 chr12 43840417 43840417 G A rs776942040 ADAMTS20 Synonymous SNV V726V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 9574 chr11 7083620 7083620 T C rs117583918 NLRP14 Nonsynonymous SNV L954S 0.025 0.034 0.031 11 29 13 0.028 9 0 0 0 0 1.345 9575 chr2 113482779 113482779 A C rs4849116 NT5DC4 Nonsynonymous SNV Y283S 0.995 0.997 0.99 387 1168 383 0.992 291 581 191 145 192 16.08 9576 chr12 43860526 43860526 A G rs11182088 ADAMTS20 Synonymous SNV P432P 0.336 0.362 0.316 138 394 139 0.354 93 60 26 10 24 0.636 9577 chr11 7817959 7817959 G A rs73406603 OR5P2 Synonymous SNV F177F 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 2.884 9578 chr12 4388084 4388084 C G rs3217805 CCND2 Synonymous SNV T190T 0.397 0.445 0.34 148 466 171 0.379 100 90 38 21 31 Benign 9.073 9579 chr11 7818056 7818056 T C rs73406604 OR5P2 Nonsynonymous SNV Y145C 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 3.66 9580 chr2 113498566 113498566 A G rs3811040 CKAP2L Nonsynonymous SNV L449S 0.453 0.49 0.469 198 532 188 0.508 138 113 48 32 49 2 9581 chr2 85824039 85824039 G A rs1127974 RNF181 Synonymous SNV L104L 0.152 0.169 0.105 57 178 65 0.146 31 8 6 4 3 11.35 9582 chr12 4461485 4461485 G A rs7133330 TIGAR Synonymous SNV A147A 0.21 0.188 0.201 84 247 72 0.215 59 22 7 4 12 12.4 9583 chr11 7818151 7818151 G A rs73406606 OR5P2 Synonymous SNV A113A 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 6.478 9584 chr12 4479549 4479549 G A rs7955866 FGF23 Nonsynonymous SNV T239M 0.057 0.049 0.092 27 67 19 0.069 27 3 0 1 0 Benign 0.631 9585 chr2 113513825 113513825 T C rs6731822 CKAP2L Nonsynonymous SNV I210V 0.938 0.94 0.949 367 1101 361 0.941 279 518 169 132 172 0.001 9586 chr11 77907744 77907744 C T rs35710434 USP35 Synonymous SNV H151H 0.073 0.125 0.078 32 86 48 0.082 23 3 5 2 2 9.271 9587 chr11 7818190 7818190 C T rs73406607 OR5P2 Synonymous SNV A100A 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 10.01 9588 chr2 85843431 85843431 C T rs114838872 USP39 Nonsynonymous SNV P38L 0.074 0.057 0.078 40 87 22 0.103 23 3 0 0 0 23.1 9589 chr12 45410075 45410075 A G rs1224442 DBX2 Synonymous SNV A338A 0.636 0.604 0.697 247 747 232 0.633 205 240 67 68 77 0.041 9590 chr11 77920500 77920500 C T rs112274930 USP35 Synonymous SNV H533H 0.012 0.047 0.01 7 14 18 0.018 3 0 0 0 0 12.21 9591 chr11 7818313 7818313 C T rs73406609 OR5P2 Synonymous SNV L59L 0.204 0.253 0.18 75 240 97 0.192 53 26 11 8 11 1.851 9592 chr2 113520129 113520129 G A rs36093393 CKAP2L Nonsynonymous SNV L19F 0.078 0.086 0.058 46 92 33 0.118 17 6 4 2 3 28.1 9593 chr12 45417666 45417666 T C rs2731038 DBX2 Nonsynonymous SNV M171V 0.62 0.591 0.697 243 728 227 0.623 205 237 68 68 77 0.002 9594 chr11 7818383 7818383 - ATATGGTTACCAGGTAGATGC rs138967151 OR5P2 L35_S36insCIYLVTI 0.204 0.255 0.18 75 240 98 0.192 53 26 11 8 11 9595 chr2 85893741 85893741 G A rs1130866 SFTPB Nonsynonymous SNV T131I 0.533 0.495 0.469 210 626 190 0.538 138 171 46 31 58 Benign 0.015 9596 chr2 113537223 113537223 C A rs17561 IL1A Nonsynonymous SNV A114S 0.248 0.258 0.286 131 291 99 0.336 84 44 15 12 26 22.5 9597 chr12 4553332 4553332 A G rs2241280 FGF6 Synonymous SNV V139V 0.399 0.38 0.384 142 468 146 0.364 113 97 23 20 28 7.887 9598 chr11 829539 829539 A G rs28558789 CRACR2B Nonsynonymous SNV K153E 0.54 0.518 0.289 214 634 199 0.549 85 191 59 32 70 14.67 9599 chr2 85924729 85924729 C T rs11127 GNLY Nonsynonymous SNV T119I 0.427 0.479 0.422 170 501 184 0.436 124 107 42 26 40 5.246 9600 chr12 4553383 4553383 A G rs2241279 FGF6 Synonymous SNV T122T 0.399 0.38 0.384 142 468 146 0.364 113 97 23 20 28 0.003 9601 chr2 113590390 113590390 G A rs1143634 IL1B Synonymous SNV F105F 0.218 0.214 0.228 114 256 82 0.292 67 35 10 5 16 association 7.627 9602 chr12 4554413 4554413 C T rs11611403 FGF6 Synonymous SNV G108G 0.152 0.151 0.156 65 178 58 0.167 46 12 2 6 9 9.304 9603 chr12 4554548 4554548 G C rs7358740 FGF6 Synonymous SNV A63A 0.998 1 0.99 389 1172 384 0.997 291 585 192 144 194 0.309 9604 chr2 113671378 113671378 G T rs3811046 IL37 Nonsynonymous SNV G31V 0.739 0.753 0.673 243 868 289 0.623 198 325 107 64 78 2.609 9605 chr11 78381156 78381156 G A rs139879711 TENM4 Synonymous SNV N2078N 0.014 0.021 0.027 1 16 8 0.003 8 0 0 0 0 Benign 1.266 9606 chr12 4554630 4554630 A G rs11613495 FGF6 Nonsynonymous SNV V36A 0.152 0.148 0.153 65 179 57 0.167 45 12 2 5 10 3.645 9607 chr11 830670 830670 G T rs4075289 CRACR2B Nonsynonymous SNV S248I 0.548 0.547 0.422 214 643 210 0.549 124 185 61 36 69 17.95 9608 chr2 113671410 113671410 A G rs3811047 IL37 Nonsynonymous SNV T42A 0.742 0.753 0.677 243 871 289 0.623 199 328 107 64 78 Benign 0.119 9609 chr2 85981841 85981841 T G rs188300460 ATOH8 Nonsynonymous SNV S177A 0.021 0.008 0.01 8 25 3 0.021 3 0 0 0 0 0.214 9610 chr12 45816772 45816772 C T rs150669705 ANO6 Nonsynonymous SNV P818L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 9611 chr2 113763575 113763575 A G rs895497 IL36A Nonsynonymous SNV Q12R 0.717 0.701 0.711 288 842 269 0.738 209 306 95 72 103 0.001 9612 chr2 86088311 86088311 T C rs1138484 ST3GAL5 Nonsynonymous SNV H81R 0.169 0.182 0.167 83 198 70 0.213 49 16 4 5 6 Benign 0.324 9613 chr12 46342291 46342291 T C rs78987594 SCAF11 Synonymous SNV T109T 0.014 0.029 0.014 8 17 11 0.021 4 0 0 0 1 0.06 9614 chr11 76910631 76910631 G A rs41298745 MYO7A Synonymous SNV A1540A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.04 9615 chr12 46589988 46589988 C T rs11608815 SLC38A1 Synonymous SNV A478A 0.136 0.122 0.17 68 160 47 0.174 50 11 4 4 7 1.658 9616 chr12 4705317 4705317 C T rs3741925 DYRK4 Synonymous SNV V95V 0.284 0.255 0.293 118 334 98 0.303 86 51 10 16 19 15.39 9617 chr2 113832312 113832312 T C rs6761276 IL1F10 Nonsynonymous SNV I44T 0.607 0.638 0.599 253 713 245 0.649 176 219 72 54 80 23.1 9618 chr2 86259443 86259443 C T rs2276626 POLR1A Synonymous SNV G1408G 0.612 0.602 0.565 230 719 231 0.59 166 223 80 51 70 14.99 9619 chr11 85435730 85435730 C T rs550404 SYTL2 Synonymous SNV P1557P 0.65 0.674 0.663 254 763 259 0.651 195 244 88 65 86 13.17 9620 chr11 78498022 78498022 C T rs11237621 TENM4 Synonymous SNV P762P 0.117 0.143 0.122 49 137 55 0.126 36 6 6 1 5 18.81 9621 chr12 47168898 47168898 G A rs180414 SLC38A4 Synonymous SNV P411P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.957 9622 chr12 4735737 4735737 A G rs2072358 AKAP3 Synonymous SNV L777L 0.306 0.263 0.296 123 359 101 0.315 87 59 12 16 19 0.462 9623 chr2 113832333 113832333 C A rs6743376 IL1F10 Nonsynonymous SNV A51D 0.72 0.747 0.707 280 845 287 0.718 208 306 104 77 102 12.1 9624 chr12 4736495 4736495 C T rs1990312 AKAP3 Nonsynonymous SNV E525K 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 13.99 9625 chr11 71259997 71259997 G T rs61746411 KRTAP5-9 Nonsynonymous SNV Q98H 0.02 0.026 0.037 13 23 10 0.033 11 0 0 0 0 16.57 9626 chr11 66743098 66743098 C T rs118060724 C11orf86 Nonsynonymous SNV R89W 0.02 0.021 0.01 3 24 8 0.008 3 2 0 0 0 13.92 9627 chr2 113956371 113956371 G C rs2276561 PSD4 Synonymous SNV T893T 0.535 0.539 0.544 206 628 207 0.528 160 172 55 43 54 8.54 9628 chr12 4736631 4736631 A G rs11063265 AKAP3 Synonymous SNV F479F 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.002 9629 chr2 86371883 86371883 T C rs8244 IMMT Synonymous SNV A594A 0.475 0.419 0.412 191 558 161 0.49 121 130 39 29 49 0.058 9630 chr11 71725634 71725634 C T rs149184541 NUMA1 Nonsynonymous SNV R972Q 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 Benign 17.82 9631 chr12 4736677 4736677 G C rs11063266 AKAP3 Nonsynonymous SNV T464S 0.987 0.997 0.99 386 1159 383 0.99 291 572 191 145 191 0.001 9632 chr2 116510817 116510817 G C rs2053724 DPP10 Nonsynonymous SNV A86P 0.564 0.583 0.517 215 662 224 0.551 152 202 68 38 60 18.58 9633 chr2 86433240 86433240 C T rs10901 MRPL35 Nonsynonymous SNV P19S 0.48 0.427 0.398 193 564 164 0.495 117 132 37 28 49 22.2 9634 chr12 4736690 4736690 A G rs10774251 AKAP3 Synonymous SNV L460L 0.992 0.992 0.99 387 1165 381 0.992 291 578 189 144 192 0.001 9635 chr2 116525960 116525960 G A rs1446495 DPP10 Nonsynonymous SNV V147I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.91 9636 chr12 4737318 4737318 A G rs7960207 AKAP3 Synonymous SNV N250N 0.948 0.961 0.946 377 1113 369 0.967 278 527 177 131 182 0.002 9637 chr11 8009241 8009241 C T rs12421289 EIF3F Synonymous SNV A114A 0.194 0.224 0.221 77 228 86 0.197 65 20 10 8 10 18.65 9638 chr12 4737459 4737459 C T rs2072356 AKAP3 Synonymous SNV S203S 0.796 0.823 0.793 320 935 316 0.821 233 376 133 91 131 4.401 9639 chr2 118583940 118583940 C T rs2303348 DDX18 Synonymous SNV R539R 0.374 0.333 0.412 142 439 128 0.364 121 86 22 28 23 15.34 9640 chr12 4737715 4737715 C T rs2072355 AKAP3 Nonsynonymous SNV G118E 0.796 0.82 0.793 320 935 315 0.821 233 376 133 91 131 0.002 9641 chr2 119915509 119915509 G T rs1317848 C1QL2 Synonymous SNV R113R 0.277 0.263 0.259 108 325 101 0.277 76 44 14 10 15 0.07 9642 chr2 86979093 86979093 G A rs10186663 RMND5A Synonymous SNV E120E 0.582 0.591 0.568 238 683 227 0.61 167 220 68 47 65 10.91 9643 chr12 48144925 48144925 T C rs2016123 RAPGEF3 Nonsynonymous SNV R151G 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 1.001 9644 chr2 120003642 120003642 C T rs838083 STEAP3-AS1 0.913 0.893 0.908 342 1072 343 0.877 267 493 155 120 151 5.981 9645 chr2 88387403 88387403 C A rs1542088 SMYD1 Synonymous SNV R113R 0.441 0.456 0.432 183 518 175 0.469 127 103 39 28 47 20.2 9646 chr11 793588 793588 G A rs80335370 SLC25A22 Synonymous SNV P78P 0.078 0.078 0.058 28 91 30 0.072 17 2 1 0 2 Benign 14.08 9647 chr2 120005569 120005569 C T rs17805141 STEAP3 Synonymous SNV L269L 0.065 0.052 0.048 15 76 20 0.038 14 5 1 1 1 12.17 9648 chr12 48151822 48151822 C G rs11168230 RAPGEF3 Nonsynonymous SNV A16P 0.379 0.396 0.276 145 445 152 0.372 81 79 32 21 23 23.4 9649 chr11 85630411 85630411 C T rs12805520 CCDC83 Nonsynonymous SNV P367L 0.081 0.094 0.078 31 95 36 0.079 23 8 2 2 3 34 9650 chr2 120060082 120060082 T C rs1052500 C2orf76 Nonsynonymous SNV K99R 0.632 0.615 0.616 259 742 236 0.664 181 254 80 55 84 6.603 9651 chr11 8115699 8115699 T C rs4758289 TUB Synonymous SNV G120G 0.273 0.286 0.228 95 320 110 0.244 67 42 10 7 14 9.5 9652 chr12 48238757 48238757 A G rs731236 VDR Synonymous SNV I352I 0.403 0.406 0.408 147 473 156 0.377 120 93 33 24 26 Benign 0.727 9653 chr11 8159892 8159892 G T rs10839976 RIC3 Synonymous SNV L118L 0.178 0.164 0.146 70 209 63 0.179 43 14 5 1 6 14.17 9654 chr12 48272895 48272895 A G rs2228570 VDR Star tloss M1? 0.664 0.654 0.66 260 780 251 0.667 194 258 86 67 88 drug response 23 9655 chr2 120078778 120078778 T C rs1132267 C2orf76 Nonsynonymous SNV I46V 0.654 0.646 0.616 259 768 248 0.664 181 256 78 55 84 0.499 9656 chr11 85725937 85725937 C T rs592297 PICALM Synonymous SNV Q174Q 0.801 0.771 0.707 300 940 296 0.769 208 390 117 84 117 Benign 13.11 9657 chr11 72533949 72533949 C T rs910723203 ATG16L2 Nonsynonymous SNV A150V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.7 9658 chr12 48375568 48375568 A G rs1635553 COL2A1 Synonymous SNV N731N 0.507 0.482 0.446 190 595 185 0.487 131 151 49 28 41 Benign 0.155 9659 chr2 120125029 120125029 A G rs2084202 DBI Synonymous SNV R39R 0.868 0.885 0.908 331 1019 340 0.849 267 441 150 122 141 1.214 9660 chr11 801092 801092 G A rs11539604 PIDD1 Synonymous SNV H553H 0.095 0.089 0.071 37 111 34 0.095 21 3 1 2 4 4.896 9661 chr11 67395634 67395634 C T rs35181012 NUDT8 Nonsynonymous SNV R165H 0.046 0.063 0.054 19 54 24 0.049 16 2 0 0 1 22.2 9662 chr12 48376291 48376291 G A rs2276454 COL2A1 Synonymous SNV G696G 0.486 0.466 0.432 186 570 179 0.477 127 133 47 27 41 Benign 8.699 9663 chr2 120194651 120194651 - GTGTGC rs3217464 TMEM37 T70delinsSVP 0.915 0.911 0.905 361 1074 350 0.926 266 490 158 121 170 9664 chr12 48398080 48398080 T A rs3803183 COL2A1 Nonsynonymous SNV T9S 0.888 0.883 0.786 333 1042 339 0.854 231 463 148 94 142 Benign 16.71 9665 chr2 120199140 120199140 A G rs1126839 SCTR Synonymous SNV N392N 0.914 0.914 0.898 362 1073 351 0.928 264 489 159 119 171 6.774 9666 chr11 8061231 8061231 G A rs17847539 TUB Synonymous SNV E65E 0.04 0.06 0.068 24 47 23 0.062 20 2 0 2 0 16.55 9667 chr11 8662090 8662090 T C rs11042022 TRIM66 Nonsynonymous SNV H466R 0.477 0.443 0.527 208 560 170 0.533 155 274 84 73 101 0.006 9668 chr2 120369300 120369300 T C rs10864986 CFAP221 Synonymous SNV V431V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.07 9669 chr12 48512285 48512285 C A rs4760682 PFKM Nonsynonymous SNV Q76K 0.829 0.833 0.837 331 973 320 0.849 246 409 133 104 141 6.335 9670 chr2 120388412 120388412 G A rs2272058 CFAP221 Nonsynonymous SNV V637I 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.001 9671 chr12 48527186 48527186 C T rs1049392 PFKM Synonymous SNV T172T 0.175 0.19 0.16 58 205 73 0.149 47 23 8 4 2 Benign 19.12 9672 chr11 72983359 72983359 G A rs1894075 P2RY6 Synonymous SNV S39S 0.137 0.169 0.133 65 161 65 0.167 39 10 7 4 3 Benign 8.887 9673 chr11 8671369 8671369 C T rs10840101 TRIM66 Synonymous SNV L25L 0.25 0.203 0.235 101 294 78 0.259 69 37 8 8 10 13.97 9674 chr12 48539482 48539482 T G rs8716 PFKM Synonymous SNV A778A 0.413 0.432 0.384 147 485 166 0.377 113 99 32 21 27 Benign 0.191 9675 chr2 120438523 120438523 A G rs13011768 TMEM177 Nonsynonymous SNV I32V 0.824 0.82 0.837 315 967 315 0.808 246 393 130 107 126 0.043 9676 chr12 48578325 48578325 A C rs10783231 CCDC184 Nonsynonymous SNV E140D 0.867 0.865 0.816 334 1018 332 0.856 240 442 145 101 143 0.004 9677 chr11 73020846 73020846 G T rs3741151 ARHGEF17 Nonsynonymous SNV R388L 0.046 0.06 0.037 19 54 23 0.049 11 3 1 0 0 22.8 9678 chr2 120438696 120438696 A G rs939777 TMEM177 Synonymous SNV Q89Q 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 12.59 9679 chr2 88913273 88913273 G C rs867529 EIF2AK3 Nonsynonymous SNV S136C 0.273 0.26 0.207 89 320 100 0.228 61 44 19 5 9 Benign 18.27 9680 chr11 82895826 82895826 A G rs118001085 PCF11 Nonsynonymous SNV S1651G 0.049 0.044 0.041 15 57 17 0.038 12 4 0 1 0 21.5 9681 chr12 48578442 48578442 C T rs73304926 CCDC184 Synonymous SNV D179D 0.182 0.211 0.18 61 214 81 0.156 53 26 10 6 2 6.119 9682 chr2 120439230 120439230 C G rs1983406 TMEM177 Nonsynonymous SNV D267E 0.823 0.82 0.837 315 966 315 0.808 246 393 130 107 126 0.001 9683 chr11 82698804 82698804 G A rs147598434 RAB30 Synonymous SNV I62I 0.004 0.005 0.014 0 5 2 0 4 0 0 0 0 11.96 9684 chr11 73021084 73021084 C T rs3741149 ARHGEF17 Synonymous SNV I467I 0.048 0.06 0.044 19 56 23 0.049 13 3 1 0 0 12.34 9685 chr12 48596875 48596875 - A rs144247841 OR10AD1 Frameshift insertion S68Vfs*55 0.226 0.258 0.231 88 265 99 0.226 68 33 12 8 8 9686 chr11 82879761 82879761 C T rs74589009 PCF11 Nonsynonymous SNV P926L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.2 9687 chr12 48723324 48723324 C G rs2732441 H1-7 Nonsynonymous SNV R84G 0.392 0.393 0.384 143 460 151 0.367 113 98 25 23 30 6.313 9688 chr11 73073580 73073580 C T rs76764824 ARHGEF17 Synonymous SNV L1599L 0.044 0.06 0.037 19 52 23 0.049 11 3 1 0 0 12.08 9689 chr11 8751640 8751640 G C rs3812762 DENND2B Nonsynonymous SNV D399E 0.46 0.453 0.469 180 540 174 0.462 138 116 42 26 32 8.829 9690 chr2 120885310 120885310 G A rs1034489 EPB41L5 Nonsynonymous SNV A462T 0.771 0.734 0.728 292 905 282 0.749 214 345 106 75 112 3.368 9691 chr11 73106237 73106237 A C rs11544311 RELT Synonymous SNV P384P 0.053 0.057 0.034 22 62 22 0.056 10 3 1 0 0 0.003 9692 chr12 48723784 48723784 C T rs2291483 H1-7 Nonsynonymous SNV S237F 0.21 0.234 0.19 84 246 90 0.215 56 33 12 7 8 23.3 9693 chr11 82973004 82973004 C T rs8789 CCDC90B Synonymous SNV S123S 0.434 0.456 0.391 157 510 175 0.403 115 103 43 20 30 17.02 9694 chr11 73106294 73106294 A C rs17851510 RELT Synonymous SNV T403T 0.073 0.063 0.054 30 86 24 0.077 16 4 2 0 0 0.001 9695 chr2 120980428 120980428 G C rs11550347 TMEM185B Nonsynonymous SNV A42G 0.695 0.654 0.677 271 816 251 0.695 199 276 83 64 97 23.2 9696 chr12 4873163 4873163 G T rs1468556 GALNT8 Nonsynonymous SNV V515F 0.379 0.404 0.401 153 445 155 0.392 118 78 34 19 25 2.021 9697 chr2 95947099 95947099 G A rs72819488 PROM2 Nonsynonymous SNV G513S 0.117 0.128 0.065 61 137 49 0.156 19 4 4 2 5 22.5 9698 chr2 121036333 121036333 G A rs11545293 RALB Synonymous SNV T31T 0.072 0.099 0.088 28 85 38 0.072 26 1 3 1 0 11.84 9699 chr2 121726447 121726447 G A rs2592595 GLI2 Synonymous SNV S142S 0.98 0.977 0.959 378 1151 375 0.969 282 564 183 136 183 Benign 8.346 9700 chr12 48736985 48736985 T G rs2732481 ZNF641 Nonsynonymous SNV Q340P 0.392 0.393 0.381 142 460 151 0.364 112 98 25 23 29 21.6 9701 chr12 48737245 48737245 A C rs2732484 ZNF641 Synonymous SNV G253G 0.392 0.391 0.381 143 460 150 0.367 112 98 25 23 29 0.378 9702 chr2 121746956 121746956 G T rs3738880 GLI2 Nonsynonymous SNV A1014S 0.75 0.76 0.718 308 880 292 0.79 211 330 111 77 126 Benign 2.058 9703 chr2 96789787 96789787 T C rs893173 ASTL Synonymous SNV L366L 0.264 0.237 0.221 110 310 91 0.282 65 37 11 5 18 0.049 9704 chr11 88911696 88911696 C A rs1042602 TYR Nonsynonymous SNV S192Y 0.49 0.49 0.486 169 575 188 0.433 143 146 48 31 36 Conflicting interpretations of pathogenicity 25 9705 chr12 48888594 48888594 C T rs11458 C12orf54 Nonsynonymous SNV P86S 0.457 0.497 0.473 168 536 191 0.431 139 120 46 34 41 17.14 9706 chr2 121747406 121747406 G A rs12711538 GLI2 Nonsynonymous SNV D1164N 0.746 0.755 0.718 304 876 290 0.779 211 326 110 77 124 Benign 0.385 9707 chr2 96795608 96795608 T G rs1657502 ASTL Nonsynonymous SNV K277Q 0.267 0.24 0.197 110 313 92 0.282 58 37 12 6 18 11.51 9708 chr12 48888689 48888689 C G rs9268 C12orf54 Synonymous SNV L117L 0.635 0.651 0.633 227 746 250 0.582 186 246 88 60 65 2.413 9709 chr12 48888763 48888763 A G rs2705132 C12orf54 0.997 0.997 0.99 389 1171 383 0.997 291 585 191 145 194 6.744 9710 chr2 121747429 121747429 A G rs10167980 GLI2 Synonymous SNV P1171P 0.753 0.763 0.721 308 884 293 0.79 212 332 112 78 126 Benign 7.076 9711 chr2 96795714 96795714 G A rs749459 ASTL Synonymous SNV L241L 0.265 0.234 0.218 111 311 90 0.285 64 38 12 6 18 9.685 9712 chr12 48919556 48919556 A G rs2731073 OR8S1 Nonsynonymous SNV M48V 0.9 0.898 0.901 334 1057 345 0.856 265 477 155 118 142 0.002 9713 chr11 85375601 85375601 G A rs17810766 CREBZF Synonymous SNV L107L 0.054 0.07 0.041 13 63 27 0.033 12 2 1 0 0 11.08 9714 chr2 121981950 121981950 A G rs11890430 TFCP2L1 Synonymous SNV D469D 0.279 0.286 0.299 132 328 110 0.338 88 47 19 13 25 2.082 9715 chr11 8933064 8933064 G A rs1133833 AKIP1 Nonsynonymous SNV R23K 0.365 0.37 0.323 138 428 142 0.354 95 77 26 13 23 10.33 9716 chr2 125192068 125192068 T C rs1425745 CNTNAP5 Synonymous SNV D179D 0.935 0.951 0.942 378 1098 365 0.969 277 511 175 130 183 0.053 9717 chr12 48919659 48919659 T C rs4075258 OR8S1 Nonsynonymous SNV L82P 0.491 0.526 0.534 182 577 202 0.467 157 137 50 43 48 26.6 9718 chr11 8942942 8942942 C T rs2653601 C11orf16 Nonsynonymous SNV R442Q 0.456 0.443 0.398 165 535 170 0.423 117 125 37 22 32 0.212 9719 chr2 96944553 96944553 G A rs772175 SNRNP200 Synonymous SNV L1773L 0.212 0.19 0.204 96 249 73 0.246 60 22 9 6 15 Benign 9.134 9720 chr2 127453664 127453664 A C rs1050967 GYPC Synonymous SNV G92G 0.533 0.552 0.578 196 626 212 0.503 170 162 54 53 45 0.055 9721 chr11 822588 822588 C T rs10902224 PNPLA2 Synonymous SNV L226L 0.024 0.013 0.014 9 28 5 0.023 4 0 0 0 0 Benign 5.083 9722 chr12 48919660 48919660 G A rs35367885 OR8S1 Synonymous SNV L82L 0.454 0.495 0.473 167 533 190 0.428 139 116 45 34 41 8.905 9723 chr11 73007854 73007854 C T rs11235715 P2RY6 Synonymous SNV F198F 0.014 0.01 0.003 2 16 4 0.005 1 0 0 0 0 13.82 9724 chr11 73814438 73814438 G C rs34050666 C2CD3 Nonsynonymous SNV P773R 0.012 0.01 0.014 1 14 4 0.003 4 0 0 0 0 23.1 9725 chr2 127816632 127816632 G A rs2276579 BIN1 Synonymous SNV A264A 0.216 0.237 0.19 80 253 91 0.205 56 27 6 6 7 Benign/Likely benign 10.36 9726 chr12 48919796 48919796 C T rs12425460 OR8S1 Nonsynonymous SNV R128C 0.492 0.526 0.534 182 578 202 0.467 157 138 50 43 48 23.2 9727 chr11 824428 824428 G T rs11554663 PNPLA2 Synonymous SNV L389L 0.024 0.013 0.014 9 28 5 0.023 4 0 0 0 0 Benign 0.052 9728 chr11 74204591 74204591 G A rs60455691 LIPT2 Nonsynonymous SNV A53V 0.218 0.203 0.218 96 256 78 0.246 64 26 11 13 13 19.27 9729 chr2 127826533 127826533 A G rs1060743 BIN1 Synonymous SNV T162T 0.323 0.331 0.32 132 379 127 0.338 94 64 18 18 21 Benign/Likely benign 4.738 9730 chr12 49048738 49048738 G T rs3741628 KANSL2 Nonsynonymous SNV P445T 0.578 0.594 0.592 247 679 228 0.633 174 195 70 51 75 16.45 9731 chr2 127953054 127953054 A C rs7568070 CYP27C1 Synonymous SNV T192T 0.282 0.281 0.313 116 331 108 0.297 92 44 13 11 13 0.001 9732 chr12 49086963 49086963 G A rs3741632 CCNT1 Synonymous SNV P678P 0.578 0.581 0.609 239 679 223 0.613 179 194 67 54 69 3.426 9733 chr2 128079806 128079806 A G rs3732209 MAP3K2 Synonymous SNV A287A 0.256 0.258 0.316 114 301 99 0.292 93 44 16 11 15 7.379 9734 chr11 73620537 73620537 C G rs3741138 PAAF1 Nonsynonymous SNV A210G 0.056 0.081 0.034 24 66 31 0.062 10 2 1 0 1 18.84 9735 chr11 8947179 8947179 G A rs2568077 C11orf16 Synonymous SNV D345D 0.458 0.448 0.398 165 538 172 0.423 117 127 38 22 32 0.821 9736 chr12 49176582 49176582 G A rs3730064 ADCY6 Synonymous SNV S212S 0.069 0.055 0.044 20 81 21 0.051 13 6 1 0 1 9.359 9737 chr2 128180872 128180872 G T rs5936 PROC Synonymous SNV S141S 0.586 0.617 0.588 240 688 237 0.615 173 205 72 52 73 Benign 9.926 9738 chr12 49176872 49176872 G T rs3730308 ADCY6 Synonymous SNV R116R 0.187 0.174 0.211 66 219 67 0.169 62 19 5 4 8 0.914 9739 chr12 4919267 4919267 A G rs758534 KCNA6 Synonymous SNV G20G 0.403 0.391 0.483 147 473 150 0.377 142 146 46 44 40 4.896 9740 chr2 128184770 128184770 T C rs5937 PROC Synonymous SNV D256D 0.268 0.305 0.323 129 315 117 0.331 95 50 23 13 17 Benign 0.153 9741 chr12 49221622 49221622 G A rs1045340 CACNB3 Synonymous SNV E424E 0.394 0.398 0.412 166 463 153 0.426 121 91 23 21 37 5.524 9742 chr12 49221640 49221640 G C rs753014429 CACNB3 Synonymous SNV R430R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.987 9743 chr2 128321770 128321770 G A rs2404991 MYO7B Nonsynonymous SNV G21S 0.462 0.482 0.388 144 542 185 0.369 114 130 47 22 24 5.794 9744 chr12 49230035 49230035 T G rs1057908 DDX23 Synonymous SNV I417I 0.411 0.409 0.432 172 482 157 0.441 127 97 25 24 38 11.83 9745 chr11 8959370 8959370 G A rs2742505 ASCL3 Synonymous SNV Y113Y 0.461 0.448 0.398 174 541 172 0.446 117 124 38 22 35 7.859 9746 chr11 686888 686888 G A rs117691319 DEAF1 Synonymous SNV Y16Y 0.014 0.031 0.02 10 17 12 0.026 6 0 0 0 0 Benign 11 9747 chr12 49255798 49255798 G C rs1565933 RND1 Synonymous SNV L104L 0.487 0.508 0.568 190 572 195 0.487 167 137 56 44 41 7.952 9748 chr11 85627108 85627108 T C rs7927222 CCDC83 Synonymous SNV S304S 0.279 0.234 0.241 91 327 90 0.233 71 46 6 12 13 0.057 9749 chr12 49334762 49334762 G C rs12122 ARF3 Synonymous SNV L39L 0.952 0.935 0.959 373 1118 359 0.956 282 533 167 135 178 13.43 9750 chr2 128400608 128400608 C T rs4662751 LIMS2 Synonymous SNV K133K 0.455 0.503 0.405 173 534 193 0.444 119 119 51 26 42 Benign 13.69 9751 chr2 97427327 97427327 C T rs35633391 CNNM4 Synonymous SNV G197G 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Uncertain significance 9.719 9752 chr12 49390677 49390677 T C rs10783299 DDN Nonsynonymous SNV E661G 0.34 0.365 0.35 132 399 140 0.338 103 61 24 16 23 0.205 9753 chr2 128757995 128757995 A C rs17015864 SAP130 Synonymous SNV S327S 0.112 0.094 0.082 38 131 36 0.097 24 9 2 0 1 2.97 9754 chr12 49425978 49425978 T C rs3741622 KMT2D Synonymous SNV P4170P 0.305 0.313 0.31 122 358 120 0.313 91 50 18 13 17 Benign 0.606 9755 chr2 128870808 128870808 T C rs4662775 UGGT1 Synonymous SNV N224N 0.986 0.977 0.98 379 1157 375 0.972 288 570 183 142 186 5.088 9756 chr12 49427652 49427652 C T rs3782357 KMT2D Synonymous SNV Q3612Q 0.338 0.365 0.344 132 397 140 0.338 101 61 24 16 23 Benign 3.237 9757 chr2 128878014 128878014 G A rs4662594 UGGT1 Synonymous SNV K319K 0.986 0.979 0.986 382 1158 376 0.979 290 571 184 143 187 13.09 9758 chr12 49434074 49434074 C A rs10747559 KMT2D Synonymous SNV G2493G 0.43 0.477 0.422 161 505 183 0.413 124 112 42 25 32 Benign 9.73 9759 chr2 97633267 97633267 G C rs113319086 FAM178B Nonsynonymous SNV P242A 0.17 0.169 0.15 58 200 65 0.149 44 20 7 2 2 9.959 9760 chr2 128934400 128934400 T C rs2290111 UGGT1 Synonymous SNV T1184T 0.503 0.448 0.551 182 591 172 0.467 162 147 41 42 36 2.028 9761 chr12 49444545 49444545 G A rs2241726 KMT2D Synonymous SNV I942I 0.341 0.362 0.35 132 400 139 0.338 103 62 24 16 23 Benign 3.107 9762 chr2 128939799 128939799 C T rs17178720 UGGT1 Synonymous SNV D1393D 0.144 0.133 0.156 50 169 51 0.128 46 8 2 3 2 16.67 9763 chr12 49500398 49500398 G A rs10783304 LMBR1L Synonymous SNV G24G 0.292 0.315 0.296 109 343 121 0.279 87 44 23 12 15 4.358 9764 chr2 128939817 128939817 G A rs1699 UGGT1 Synonymous SNV K1399K 0.365 0.331 0.34 130 428 127 0.333 100 78 23 16 24 14.45 9765 chr12 5021228 5021228 T C rs1048500 KCNA1 Synonymous SNV C228C 0.565 0.555 0.524 232 663 213 0.595 154 183 62 39 76 Benign 0.006 9766 chr2 129075961 129075961 T C rs1133923 HS6ST1 Synonymous SNV T59T 0.504 0.513 0.497 200 592 197 0.513 146 145 49 37 45 1.491 9767 chr12 5021348 5021348 G C rs2227910 KCNA1 Synonymous SNV T268T 0.592 0.586 0.541 234 695 225 0.6 159 201 70 43 77 Benign 2.046 9768 chr2 131100734 131100734 G A rs11542411 IMP4 Nonsynonymous SNV E27K 0.216 0.19 0.187 84 253 73 0.215 55 26 7 7 9 21.9 9769 chr12 5021984 5021984 T A rs4766309 KCNA1 Synonymous SNV T480T 0.716 0.716 0.711 279 841 275 0.715 209 300 99 72 102 Benign 6.599 9770 chr12 50304588 50304588 A T rs487165 LINC02396 0 0 0.827 0 0 0 0 243 0 0 102 0 1.877 9771 chr11 75511469 75511469 G A rs34113941 DGAT2 Nonsynonymous SNV M318I 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 23.1 9772 chr12 50348078 50348078 T C rs426496 AQP2 Synonymous SNV S167S 0.771 0.76 0.772 309 905 292 0.792 227 350 113 87 122 Benign 1.748 9773 chr11 85374993 85374993 C T rs1192 CREBZF Synonymous SNV P309P 0.119 0.102 0.105 37 140 39 0.095 31 5 2 2 2 13.42 9774 chr2 131129929 131129934 GACGGG - rs112040677 PTPN18 T271_G272del 0.242 0.237 0.197 96 284 91 0.246 58 36 9 10 13 9775 chr11 86159223 86159223 C T rs34662182 ME3 Synonymous SNV V402V 0.097 0.091 0.092 40 114 35 0.103 27 8 2 0 1 13.26 9776 chr11 92573911 92573911 G T rs10765565 FAT3 Nonsynonymous SNV V3518L 0.461 0.456 0.418 183 541 175 0.469 123 127 35 29 40 8.947 9777 chr12 50452708 50452708 C G rs653576 ASIC1 Synonymous SNV S53S 0.982 0.971 0.973 380 1153 373 0.974 286 566 181 139 185 10.59 9778 chr2 98277090 98277090 T C rs79616802 ACTR1B Nonsynonymous SNV M45V 0.152 0.161 0.15 58 179 62 0.149 44 15 6 2 3 12.34 9779 chr11 76114885 76114885 T C rs80006998 GVQW3 Synonymous SNV D188D 0.06 0.073 0.051 34 71 28 0.087 15 2 1 1 2 0.022 9780 chr2 131487673 131487673 A C rs272128 GPR148 Nonsynonymous SNV T317P 0.901 0.924 0.884 358 1058 355 0.918 260 477 165 116 164 3.42 9781 chr12 50467644 50467644 G T rs706792 ASIC1 Nonsynonymous SNV A93S 0.422 0.427 0.466 184 495 164 0.472 137 108 37 28 40 18.18 9782 chr11 86382975 86382975 C A rs61739529 ME3 Synonymous SNV A4A 0.037 0.044 0.065 19 43 17 0.049 19 0 1 1 1 23.1 9783 chr2 98736225 98736225 C T rs2305355 VWA3B Nonsynonymous SNV R181W 0.065 0.068 0.109 34 76 26 0.087 32 4 0 2 0 23.1 9784 chr12 50467769 50467769 G A rs706793 ASIC1 Synonymous SNV P134P 0.422 0.427 0.466 184 495 164 0.472 137 108 37 28 40 14 9785 chr2 131520178 131520178 C G rs77687733 AMER3 Nonsynonymous SNV A178G 0.213 0.242 0.19 88 250 93 0.226 56 28 11 10 7 8.257 9786 chr11 864445 864445 G C rs61867552 TSPAN4 Synonymous SNV L88L 0.04 0.047 0.058 23 47 18 0.059 17 2 1 0 1 8.69 9787 chr12 50503269 50503269 C T rs836180 GPD1 Synonymous SNV I316I 0.406 0.422 0.456 173 477 162 0.444 134 96 36 28 35 15.35 9788 chr11 92702962 92702962 G A rs8192552 MTNR1B Nonsynonymous SNV G24E 0.06 0.065 0.075 30 70 25 0.077 22 5 0 0 2 3.421 9789 chr12 50529736 50529736 G A rs3741562 CERS5 Synonymous SNV D251D 0.342 0.344 0.323 132 402 132 0.338 95 60 29 13 17 11.28 9790 chr2 98779439 98779439 G T rs62154921 VWA3B Stop gain E29X 0.032 0.036 0.027 15 38 14 0.038 8 0 0 0 0 36 9791 chr2 131520663 131520663 T C rs1905235 AMER3 Nonsynonymous SNV S340P 0.952 0.969 0.949 373 1118 372 0.956 279 533 181 132 178 0.001 9792 chr11 74994352 74994352 G A rs877711 ARRB1 Synonymous SNV H111H 0.098 0.112 0.136 55 115 43 0.141 40 3 1 4 7 10.6 9793 chr12 50537815 50537815 A G rs7302981 CERS5 Nonsynonymous SNV C75R 0.595 0.576 0.541 215 698 221 0.551 159 208 65 40 56 5.59 9794 chr11 86267678 86267678 G A rs4943943 ME3 Synonymous SNV D128D 0.321 0.344 0.252 142 377 132 0.364 74 59 29 6 34 10.01 9795 chr2 98844674 98844674 C G rs7601049 VWA3B Nonsynonymous SNV L334V 0.657 0.672 0.663 267 771 258 0.685 195 256 88 62 89 0.085 9796 chr11 92714893 92714893 C T rs140984335 MTNR1B Synonymous SNV T168T 0.006 0.008 0 2 7 3 0.005 0 1 0 0 0 Likely benign 9.168 9797 chr12 50727706 50727706 G C rs6580741 FAM186A Nonsynonymous SNV H2228Q 0.337 0.354 0.303 131 396 136 0.336 89 52 30 13 18 0.046 9798 chr2 131672950 131672950 A G rs12464119 ARHGEF4 Synonymous SNV Q477Q 0.602 0.633 0.575 228 707 243 0.585 169 202 80 47 63 3.29 9799 chr11 8646670 8646670 T G rs7947230 TRIM66 Nonsynonymous SNV N661H 0.265 0.255 0.255 85 311 98 0.218 75 39 13 8 9 21.5 9800 chr2 98853173 98853173 G A rs11889349 VWA3B Nonsynonymous SNV V542M 0.616 0.615 0.612 247 723 236 0.633 180 228 69 52 74 0.412 9801 chr2 131673316 131673316 C T rs3739129 ARHGEF4 Synonymous SNV P599P 0.607 0.638 0.588 227 713 245 0.582 173 207 81 48 62 7.097 9802 chr11 93402096 93402096 C A rs1944101 CEP295 Synonymous SNV T144T 0.951 0.971 0.939 374 1117 373 0.959 276 546 183 135 184 18.62 9803 chr12 50727811 50727811 C T rs6580742 FAM186A Nonsynonymous SNV M2193I 0.129 0.125 0.119 47 152 48 0.121 35 8 5 1 0 22.9 9804 chr2 131674285 131674285 A G rs3739127 ARHGEF4 Synonymous SNV S922S 0.606 0.643 0.578 231 711 247 0.592 170 205 83 47 66 5.811 9805 chr11 8646763 8646763 G C rs7935453 TRIM66 Nonsynonymous SNV L630V 0.304 0.313 0.303 109 357 120 0.279 89 62 16 14 16 0.037 9806 chr2 98928429 98928429 C G rs17428626 VWA3B Nonsynonymous SNV D880E 0.046 0.049 0.048 19 54 19 0.049 14 0 3 0 0 12.43 9807 chr2 131802045 131802045 C T rs10928515 ARHGEF4 Synonymous SNV P1777P 0.094 0.078 0.139 45 110 30 0.115 41 3 1 2 2 16.39 9808 chr12 50744119 50744119 G A rs7296291 FAM186A Nonsynonymous SNV H2166Y 0.657 0.643 0.684 258 771 247 0.662 201 237 85 69 81 0.046 9809 chr11 870467 870467 C T rs1127800 CHID1 Nonsynonymous SNV R300Q 0.089 0.094 0.116 30 105 36 0.077 34 8 3 1 1 20.9 9810 chr2 133539566 133539566 G A rs6730282 NCKAP5 Synonymous SNV H1606H 0.535 0.568 0.514 207 628 218 0.531 151 167 58 47 58 0.021 9811 chr12 50744171 50744171 T C rs7312252 FAM186A Synonymous SNV T2148T 0.657 0.643 0.69 258 771 247 0.662 203 237 85 70 81 0.236 9812 chr2 133539582 133539582 T C rs201294911 NCKAP5 Nonsynonymous SNV E1601G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.89 9813 chr11 74413955 74413955 G A rs35903991 CHRDL2 Nonsynonymous SNV P270L 0.035 0.026 0.024 9 41 10 0.023 7 0 1 0 0 15.12 9814 chr12 50744753 50744753 T C rs10506292 FAM186A Synonymous SNV K1954K 0.655 0.643 0.69 258 769 247 0.662 203 236 85 70 81 0.019 9815 chr11 93457532 93457532 C G rs78544176 CEP295 Nonsynonymous SNV D2103E 0.049 0.063 0.034 24 58 24 0.062 10 2 1 1 0 25.2 9816 chr12 50745811 50745811 G A rs34782671 FAM186A Nonsynonymous SNV P1602S 0.015 0.005 0.051 4 18 2 0.01 15 0 0 0 0 0.001 9817 chr2 133541444 133541444 T C rs12691829 NCKAP5 Synonymous SNV P980P 0.572 0.581 0.595 214 671 223 0.549 175 197 61 52 59 0.003 9818 chr12 50746348 50746348 A G rs71459098 FAM186A Nonsynonymous SNV F1423L 0.992 0.997 0.99 389 1165 383 0.997 291 579 191 145 194 0.004 9819 chr2 133541454 133541454 A G rs12691830 NCKAP5 Nonsynonymous SNV I977T 0.544 0.568 0.571 206 639 218 0.528 168 174 58 49 56 0.002 9820 chr2 99152615 99152615 G A rs61748140 INPP4A Synonymous SNV T137T 0.025 0.029 0.031 17 29 11 0.044 9 1 1 0 1 15.78 9821 chr12 50746917 50746917 A G rs10876023 FAM186A Nonsynonymous SNV L1233P 0.655 0.643 0.69 258 769 247 0.662 203 236 85 70 81 0.006 9822 chr2 133541575 133541575 C T rs12611515 NCKAP5 Nonsynonymous SNV V937I 0.377 0.398 0.344 123 443 153 0.315 101 84 32 17 22 21.2 9823 chr12 50747005 50747005 T C rs10876024 FAM186A Nonsynonymous SNV R1204G 0.652 0.638 0.69 258 766 245 0.662 203 235 84 70 81 0.014 9824 chr11 8707233 8707233 C T rs6735 RPL27A Synonymous SNV Y109Y 0.238 0.253 0.252 83 279 97 0.213 74 33 12 9 12 11.03 9825 chr2 133542014 133542014 T C rs12616282 NCKAP5 Synonymous SNV A790A 0.563 0.578 0.602 216 661 222 0.554 177 189 60 52 61 0.007 9826 chr2 133542545 133542545 G A rs10191147 NCKAP5 Synonymous SNV S613S 0.346 0.362 0.303 116 406 139 0.297 89 70 26 14 22 2.754 9827 chr12 50749221 50749221 G C rs4435082 FAM186A Nonsynonymous SNV A465G 0.994 0.997 0.993 389 1167 383 0.997 292 580 191 145 194 0.001 9828 chr2 99695254 99695254 A G rs114700999 TSGA10 Synonymous SNV I250I 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 Benign 7.034 9829 chr2 133554288 133554288 A G rs1868076 NCKAP5 Synonymous SNV R274R 0.588 0.602 0.585 226 690 231 0.579 172 210 68 50 64 1.417 9830 chr11 7507182 7507182 A G rs118163706 OLFML1 Nonsynonymous SNV T26A 0.021 0.031 0.024 6 25 12 0.015 7 0 0 0 0 9.508 9831 chr12 50749227 50749227 T G rs4625558 FAM186A Nonsynonymous SNV K463T 0.994 0.997 0.993 389 1167 383 0.997 292 580 191 145 194 0.001 9832 chr2 135711516 135711516 C T rs3814355 CCNT2 Synonymous SNV D497D 0.822 0.818 0.888 325 965 314 0.833 261 398 128 116 136 4.669 9833 chr2 135711657 135711657 G A rs3814354 CCNT2 Synonymous SNV K544K 0.817 0.818 0.881 324 959 314 0.831 259 394 127 114 135 7.01 9834 chr12 50749294 50749294 A G rs4421818 FAM186A Synonymous SNV L441L 0.337 0.354 0.303 131 396 136 0.336 89 52 30 13 18 0.627 9835 chr2 135740876 135740876 A G rs60969462 MAP3K19 Nonsynonymous SNV I1100T 0.429 0.482 0.52 186 504 185 0.477 153 121 48 41 43 7.717 9836 chr12 50754563 50754563 T G rs12303082 FAM186A Nonsynonymous SNV K187Q 0.656 0.643 0.69 258 770 247 0.662 203 236 85 70 81 17.45 9837 chr2 100210074 100210074 G C rs1047281 AFF3 Synonymous SNV S708S 0.235 0.224 0.231 73 276 86 0.187 68 35 9 7 4 7.736 9838 chr2 135745392 135745392 G A rs11888766 MAP3K19 Synonymous SNV D237D 0.442 0.5 0.524 191 519 192 0.49 154 127 50 42 45 1.286 9839 chr12 51089734 51089734 T A rs11169524 DIP2B Synonymous SNV T639T 0.329 0.352 0.296 116 386 135 0.297 87 47 26 15 13 15.45 9840 chr2 100210642 100210642 T C rs1047265 AFF3 Nonsynonymous SNV N519S 0.236 0.224 0.231 73 277 86 0.187 68 35 9 7 4 0.001 9841 chr2 135745545 135745545 C T rs11899779 MAP3K19 Synonymous SNV R186R 0.461 0.505 0.534 192 541 194 0.492 157 137 50 43 45 9.032 9842 chr12 51135275 51135275 T C rs1866422 DIP2B Synonymous SNV I1477I 0.988 0.997 0.993 389 1160 383 0.997 292 573 191 145 194 0.359 9843 chr2 135745722 135745722 A G rs10928526 MAP3K19 Synonymous SNV S127S 0.461 0.503 0.537 192 541 193 0.492 158 137 50 43 45 0.038 9844 chr12 51203371 51203371 C T rs1129406 ATF1 Synonymous SNV Y109Y 0.277 0.289 0.33 104 325 111 0.267 97 58 27 18 16 12.77 9845 chr11 94759059 94759059 A G rs10752685 KDM4E Nonsynonymous SNV Q113R 0.809 0.813 0.071 296 950 312 0.759 21 401 134 7 117 0.001 9846 chr2 135893372 135893372 A G rs10445686 RAB3GAP1 Nonsynonymous SNV N598S 0.382 0.388 0.435 148 448 149 0.379 128 89 26 34 28 Benign 8.668 9847 chr12 51236931 51236931 G A rs829121 TMPRSS12 Nonsynonymous SNV E62K 0.995 0.995 0.986 389 1168 382 0.997 290 581 191 144 194 0.004 9848 chr11 7531229 7531229 G A rs76280703 OLFML1 Nonsynonymous SNV R204H 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 20.3 9849 chr12 51237816 51237816 G A rs861204 TMPRSS12 Nonsynonymous SNV A127T 0.376 0.362 0.398 162 441 139 0.415 117 81 22 23 31 0.017 9850 chr2 135911422 135911422 T C rs17261772 RAB3GAP1 Synonymous SNV F755F 0.694 0.708 0.769 278 815 272 0.713 226 287 95 87 96 Benign 3.896 9851 chr11 75319204 75319204 G T rs185425787 MAP6 Nonsynonymous SNV R357S 0.008 0.003 0 0 9 1 0 0 0 0 0 0 33 9852 chr2 136393658 136393658 A G rs961360 R3HDM1 Nonsynonymous SNV M214V 0.401 0.422 0.456 151 471 162 0.387 134 95 32 35 33 10.63 9853 chr12 51402905 51402905 T G rs445520 SLC11A2 Nonsynonymous SNV Y6S 0.908 0.917 0.935 351 1066 352 0.9 275 485 165 129 156 7.68 9854 chr2 136409574 136409574 A C rs2305165 R3HDM1 Nonsynonymous SNV Q504P 0.2 0.18 0.167 78 235 69 0.2 49 27 7 4 12 18.46 9855 chr12 5153694 5153694 C T rs45504599 KCNA5 Synonymous SNV S127S 0.026 0.016 0.017 5 31 6 0.013 5 0 0 0 0 Benign/Likely benign 11.19 9856 chr11 95825817 95825817 T C rs367934065 MAML2 Nonsynonymous SNV N460D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.567 9857 chr12 5154462 5154462 T C rs2359641 KCNA5 Synonymous SNV G383G 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 0.001 9858 chr2 100938328 100938328 T C rs74177695 LONRF2 Synonymous SNV E76E 0.146 0.19 0.007 77 171 73 0.197 2 59 29 1 24 0.202 9859 chr12 51681903 51681903 T C rs7954976 BIN2 Nonsynonymous SNV N475D 0.9 0.914 0.891 341 1057 351 0.874 262 475 161 115 149 0.006 9860 chr2 136511817 136511817 A G rs1050115 UBXN4 Synonymous SNV E101E 0.394 0.388 0.466 150 463 149 0.385 137 95 28 30 29 10.72 9861 chr11 96116444 96116444 T C rs10831519 CCDC82 Nonsynonymous SNV Q327R 0.21 0.203 0.18 76 247 78 0.195 53 22 6 8 5 22.9 9862 chr11 8734161 8734161 C T rs762722450 DENND2B Synonymous SNV V283V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 17.66 9863 chr2 136561557 136561557 G A rs2304371 LCT Synonymous SNV L1536L 0.546 0.555 0.466 214 641 213 0.549 137 178 57 29 56 Benign 10.09 9864 chr12 51685831 51685831 T C rs3210837 BIN2 Synonymous SNV E299E 0.855 0.87 0.833 315 1004 334 0.808 245 426 145 100 128 0.009 9865 chr2 136562472 136562472 G A rs3739022 LCT Synonymous SNV G1443G 0.227 0.234 0.228 81 266 90 0.208 67 30 7 4 12 Benign 10.17 9866 chr12 51723598 51723598 - G rs17860363 CELA1 Frameshift insertion L210Pfs*24 0.305 0.289 0.333 119 358 111 0.305 98 47 15 18 13 9867 chr12 51737562 51737562 T C rs17860300 CELA1 Nonsynonymous SNV M59V 0.307 0.297 0.333 118 361 114 0.303 98 47 17 18 13 12.05 9868 chr2 136575534 136575534 T C rs4954449 LCT Nonsynonymous SNV I362V 0.997 1 0.99 389 1171 384 0.997 291 584 192 144 194 Benign 0.04 9869 chr11 76507644 76507644 G C rs12805508 TSKU Nonsynonymous SNV R328S 0.025 0.042 0.017 8 29 16 0.021 5 0 0 0 1 22.6 9870 chr12 51740408 51740411 ATAA - rs753836828 CELA1 Y5Dfs*14 0.416 0.385 0.442 167 488 148 0.428 130 101 29 31 30 9871 chr2 136590746 136590746 C T rs3754689 LCT Nonsynonymous SNV V219I 0.416 0.409 0.48 164 488 157 0.421 141 102 30 33 34 Benign 1.609 9872 chr12 51740415 51740415 - AG rs370927847 CELA1 Frameshift insertion V3Afs*18 0.416 0.385 0.442 167 488 148 0.428 130 101 29 31 30 9873 chr12 51740416 51740416 - G rs148235680 CELA1 Frameshift insertion V3Rfs*22 0.416 0.385 0.442 167 488 148 0.428 130 101 29 31 30 9874 chr11 77412140 77412140 G A rs77126870 RSF1 Nonsynonymous SNV P712S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.017 9875 chr12 52080965 52080965 C T rs4761829 SCN8A Synonymous SNV D192D 0.856 0.841 0.833 341 1005 323 0.874 245 426 133 101 148 Benign 13.42 9876 chr11 7689029 7689029 A C rs61733057 CYB5R2 Nonsynonymous SNV L163W 0.048 0.049 0.058 18 56 19 0.046 17 3 0 0 0 29.1 9877 chr2 136620315 136620315 T C rs141448886 MCM6 Nonsynonymous SNV N361S 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 20.6 9878 chr11 9051475 9051475 G C rs3751057 SCUBE2 Nonsynonymous SNV T665S 0.074 0.089 0.085 34 87 34 0.087 25 3 1 0 1 28 9879 chr12 52215102 52215102 T G rs303819 FIGNL2 Nonsynonymous SNV T366P 0.861 0.839 0.83 323 1011 322 0.828 244 435 130 104 129 0.212 9880 chr11 77412141 77412141 A C rs76166531 RSF1 Synonymous SNV V711V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.066 9881 chr2 101580575 101580575 G A rs41280595 NPAS2 Synonymous SNV V218V 0.166 0.167 0.17 79 195 64 0.203 50 8 6 2 4 12.39 9882 chr12 52215205 52215205 C T rs116545797 FIGNL2 Synonymous SNV K331K 0.059 0.026 0.065 17 69 10 0.044 19 2 0 0 1 2.637 9883 chr2 137917922 137917922 T A rs4954474 THSD7B Nonsynonymous SNV D503E 0.437 0.417 0.391 168 513 160 0.431 115 118 33 21 39 23.2 9884 chr12 52284233 52284233 T C rs706832 ANKRD33 Synonymous SNV P95P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.711 9885 chr12 52448157 52448157 G A rs2701124 NR4A1 Synonymous SNV P15P 0.11 0.109 0.099 32 129 42 0.082 29 4 1 1 1 8.384 9886 chr2 101594191 101594191 C T rs11541353 NPAS2 Nonsynonymous SNV S471L 0.166 0.161 0.167 78 195 62 0.2 49 7 6 2 4 20.8 9887 chr12 52467675 52467697 GGGGAGTTCAAGGTAAGGGTGTC - rs143921343 ATG101 G81_K84del 0.082 0.102 0.099 33 96 39 0.085 29 6 1 0 1 9888 chr2 138420996 138420996 A G rs10206850 THSD7B Nonsynonymous SNV K1501R 0.597 0.578 0.626 231 701 222 0.592 184 204 61 56 68 18.46 9889 chr11 77594923 77594923 G A rs749672057 INTS4 Nonsynonymous SNV H890Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 21.9 9890 chr12 52565322 52565322 G T rs3741737 KRT80 Synonymous SNV P418P 0.798 0.792 0.796 316 937 304 0.81 234 372 120 91 128 3.963 9891 chr12 52566047 52566047 G A rs3741736 KRT80 Synonymous SNV N371N 0.383 0.375 0.357 147 450 144 0.377 105 86 27 22 26 6.611 9892 chr11 9113002 9113002 A G rs60494098 SCUBE2 Nonsynonymous SNV L25P 0.15 0.169 0.071 84 176 65 0.215 21 15 9 3 6 18.73 9893 chr11 99690483 99690483 - AACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA CNTN5 Stop gain F89Nfs*2 0.022 0.031 0.058 6 26 12 0.015 17 0 0 0 0 9894 chr2 101609827 101609827 C T rs9223 NPAS2 Synonymous SNV T710T 0.353 0.331 0.316 115 414 127 0.295 93 69 21 12 12 16.28 9895 chr2 139429068 139429068 G A rs10803570 NXPH2 Synonymous SNV Y73Y 0.68 0.615 0.667 267 798 236 0.685 196 276 73 67 91 1.763 9896 chr12 52602013 52602013 C T rs1902767 C12orf80 0.819 0.802 0.823 317 961 308 0.813 242 397 126 99 132 17.84 9897 chr2 141032088 141032088 C T rs1386356 LRP1B Synonymous SNV T4349T 0.589 0.594 0.578 236 692 228 0.605 170 206 68 48 71 20.4 9898 chr12 52627215 52627215 A G rs7308888 KRT7 Synonymous SNV S45S 0.819 0.839 0.772 309 962 322 0.792 227 399 134 95 124 4.255 9899 chr12 52631313 52631313 A G rs6580870 KRT7 Nonsynonymous SNV H186R 0.819 0.836 0.803 310 962 321 0.795 236 399 134 98 125 0.012 9900 chr2 141260668 141260668 A G rs4444457 LRP1B Synonymous SNV Y2842Y 0.38 0.44 0.408 161 446 169 0.413 120 83 38 22 37 5.051 9901 chr2 101627925 101627925 C T rs1062062 TBC1D8 Nonsynonymous SNV G954R 0.096 0.109 0.116 46 113 42 0.118 34 1 4 3 0 23.8 9902 chr2 141274576 141274576 T C rs4954672 LRP1B Synonymous SNV Q2677Q 0.828 0.828 0.816 314 972 318 0.805 240 403 132 100 124 1.183 9903 chr12 52639302 52639302 G C rs2608009 KRT7 Nonsynonymous SNV G364A 0.818 0.839 0.759 310 960 322 0.795 223 397 134 94 125 6.05 9904 chr2 141571329 141571329 T C rs3749010 LRP1B Synonymous SNV S1752S 0.818 0.836 0.85 340 960 321 0.872 250 393 133 106 150 4.905 9905 chr2 101638828 101638828 C T rs34685616 TBC1D8 Synonymous SNV T877T 0.096 0.112 0.119 47 113 43 0.121 35 1 4 3 0 19.44 9906 chr2 141707868 141707868 G T rs6748626 LRP1B Synonymous SNV A1024A 0.176 0.169 0.224 78 207 65 0.2 66 17 3 14 10 6.999 9907 chr12 52646184 52646184 C G rs201771630 KRT87P 0 0 0.031 0 0 0 0 9 0 0 0 0 4.417 9908 chr2 141751592 141751592 G A rs13007735 LRP1B Synonymous SNV D872D 0.44 0.422 0.415 181 517 162 0.464 122 105 34 29 43 1.676 9909 chr12 52649887 52649887 T C rs2168762 KRT87P 0 0 0.69 0 0 0 0 203 0 0 70 0 9.118 9910 chr12 100707248 100707248 C T rs750714487 SCYL2 Nonsynonymous SNV R301C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 27.2 9911 chr2 141816621 141816621 A G rs1525579 LRP1B Synonymous SNV V413V 1 1 0.844 389 1174 384 0.997 248 587 192 123 194 12.02 9912 chr2 101644855 101644855 G A rs11683877 TBC1D8 Synonymous SNV P739P 0.336 0.32 0.293 105 394 123 0.269 86 64 19 8 8 3.01 9913 chr12 52649954 52649954 T C rs2242139 KRT87P 0 0 0.687 0 0 0 0 202 0 0 70 0 4.235 9914 chr12 52708420 52708420 G A rs2857671 KRT83 Nonsynonymous SNV H493Y 0.656 0.706 0.609 251 770 271 0.644 179 255 98 68 83 Benign 0.517 9915 chr2 142567910 142567910 T C rs12990449 LRP1B Nonsynonymous SNV Q48R 0.298 0.279 0.296 95 350 107 0.244 87 49 16 15 10 12.68 9916 chr12 100708367 100708367 C T rs33968174 SCYL2 Nonsynonymous SNV P357L 0.112 0.083 0.099 48 132 32 0.123 29 11 3 2 1 33 9917 chr12 52708565 52708565 A G rs2857670 KRT83 Synonymous SNV D444D 0.657 0.706 0.626 252 771 271 0.646 184 253 97 67 83 Benign 0.009 9918 chr11 7686665 7686665 C A rs200442381 CYB5R2 Synonymous SNV T257T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.71 9919 chr11 92538405 92538405 C A rs62622785 FAT3 Nonsynonymous SNV Q2995K 0.061 0.065 0.068 23 72 25 0.059 20 1 1 0 1 23.3 9920 chr2 101869588 101869588 G T rs2272320 CNOT11 Synonymous SNV P54P 0.434 0.419 0.391 174 509 161 0.446 115 124 41 20 38 0.21 9921 chr12 52709880 52709880 A G rs2852468 KRT83 Synonymous SNV A353A 0.386 0.414 0.405 142 453 159 0.364 119 92 30 28 24 Benign 3.777 9922 chr2 144194565 144194565 C T rs17230746 ARHGAP15 Synonymous SNV Y219Y 0.205 0.245 0.211 93 241 94 0.238 62 25 10 10 15 10.63 9923 chr12 52709883 52709883 T C rs2248473 KRT83 Synonymous SNV E352E 0.386 0.414 0.405 142 453 159 0.364 119 92 30 28 24 Benign 0.477 9924 chr12 101018014 101018014 T C rs1045602 GAS2L3 Synonymous SNV N477N 0.544 0.56 0.507 199 639 215 0.51 149 167 62 43 49 1.404 9925 chr2 144899559 144899559 C A rs3731958 GTDC1 Nonsynonymous SNV M137I 0.532 0.526 0.5 204 624 202 0.523 147 177 54 41 50 13.85 9926 chr12 10131939 10131939 C T rs536947 CLEC12A Synonymous SNV H32H 0.237 0.25 0.218 86 278 96 0.221 64 39 14 10 11 9.338 9927 chr12 52710309 52710309 G A rs2257286 KRT83 Synonymous SNV N328N 0.387 0.414 0.405 140 454 159 0.359 119 93 30 28 24 Benign 7.006 9928 chr12 10137557 10137557 A C rs479499 CLEC12A Nonsynonymous SNV K211Q 0.658 0.654 0.673 255 772 251 0.654 198 256 81 70 81 0.001 9929 chr12 52710715 52710715 G A rs2857669 KRT83 Synonymous SNV A281A 0.387 0.414 0.405 141 454 159 0.362 119 93 30 28 24 Benign 10.62 9930 chr2 148657117 148657117 G A rs1128919 ACVR2A Synonymous SNV P10P 0.348 0.448 0.384 132 409 172 0.338 113 78 35 23 19 14.47 9931 chr12 52710721 52710721 G C rs2852464 KRT83 Nonsynonymous SNV I279M 0.352 0.378 0.381 132 413 145 0.338 112 80 27 25 21 Benign 23.4 9932 chr2 148716428 148716428 T C rs2307394 ORC4 Nonsynonymous SNV N4S 0.359 0.453 0.378 133 422 174 0.341 111 78 35 23 19 Benign 13.19 9933 chr12 52712975 52712975 G A rs3741715 KRT83 Synonymous SNV N186N 0.325 0.357 0.31 134 381 137 0.344 91 50 25 15 22 Benign 8.986 9934 chr11 7818471 7818471 C T rs1482804 OR5P2 Nonsynonymous SNV G7R 0.106 0.096 0.099 43 124 37 0.11 29 13 3 3 2 9.343 9935 chr12 52713088 52713088 G A rs2857663 KRT83 Nonsynonymous SNV R149C 0.072 0.089 0.102 33 85 34 0.085 30 4 0 1 1 Benign 26.2 9936 chr2 149216339 149216339 C G MBD5 Synonymous SNV G4G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.694 9937 chr2 149829987 149829987 G A rs759741049 KIF5C Nonsynonymous SNV E419K 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 22.9 9938 chr11 77961265 77961265 G A rs34432093 GAB2 Synonymous SNV T148T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.232 9939 chr12 52760957 52760957 C T rs61630004 KRT85 Nonsynonymous SNV R78H 0.05 0.047 0.031 24 59 18 0.062 9 0 0 0 0 Benign 19.43 9940 chr2 150432976 150432976 C T rs11545261 MMADHC Synonymous SNV Q151Q 0.871 0.911 0.912 353 1023 350 0.905 268 441 159 124 161 Benign 16.11 9941 chr2 152236046 152236046 A - rs35060021 TNFAIP6 X278X 0.206 0.24 0.459 89 242 92 0.228 135 93 31 31 31 9942 chr12 101603459 101603459 G C rs139521439 SLC5A8 Synonymous SNV P56P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.372 9943 chr2 152311570 152311570 G A rs2444263 RIF1 Nonsynonymous SNV G836S 0.648 0.654 0.653 268 761 251 0.687 192 245 82 65 94 10.27 9944 chr12 52774158 52774158 G A rs951772 KRT84 Synonymous SNV G471G 0.164 0.169 0.126 69 192 65 0.177 37 13 7 1 6 14.7 9945 chr12 52774235 52774235 A G rs951773 KRT84 Nonsynonymous SNV C446R 0.724 0.766 0.701 296 850 294 0.759 206 304 113 71 111 10.22 9946 chr11 93529655 93529655 G A rs34057693 MED17 Synonymous SNV P364P 0.131 0.107 0.122 48 154 41 0.123 36 8 0 3 1 Benign 10.81 9947 chr11 78383209 78383209 A T rs201179027 TENM4 Nonsynonymous SNV S1888T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 19.8 9948 chr11 78419534 78419534 T C rs200821670 TENM4 Nonsynonymous SNV I1361V 0.018 0.01 0.003 2 21 4 0.005 1 2 0 0 0 Benign 17.92 9949 chr2 152314385 152314385 G A rs16830047 RIF1 Synonymous SNV L921L 0.314 0.299 0.327 125 369 115 0.321 96 62 22 11 15 11.66 9950 chr12 52774305 52774305 A G rs1732293 KRT84 Synonymous SNV D422D 0.164 0.169 0.129 69 192 65 0.177 38 13 7 1 6 0.809 9951 chr2 152320118 152320118 G A rs2123465 RIF1 Nonsynonymous SNV V1362M 0.65 0.654 0.653 267 763 251 0.685 192 246 82 65 93 0.007 9952 chr12 52777439 52777439 A G rs1614888 KRT84 Synonymous SNV S230S 0.162 0.169 0.133 69 190 65 0.177 39 13 7 1 6 0.007 9953 chr11 78399121 78399121 G A rs1792148 TENM4 Synonymous SNV G1746G 0.126 0.102 0.112 42 148 39 0.108 33 9 3 3 2 13.53 9954 chr12 52777502 52777502 A G rs1945297 KRT84 Synonymous SNV N209N 0.272 0.289 0.265 109 319 111 0.279 78 46 17 5 19 0.035 9955 chr2 152322095 152322095 A T rs2444257 RIF1 Nonsynonymous SNV N2021Y 0.691 0.685 0.69 279 811 263 0.715 203 286 91 74 99 0.001 9956 chr12 101685540 101685540 C T rs75817013 UTP20 Synonymous SNV H304H 0.019 0.021 0.014 8 22 8 0.021 4 0 0 0 0 Benign 6.159 9957 chr12 52777513 52777513 T C rs2245203 KRT84 Nonsynonymous SNV I206V 0.162 0.169 0.133 69 190 65 0.177 39 13 7 1 6 7.817 9958 chr12 101685643 101685643 C A rs75620118 UTP20 Nonsynonymous SNV P339T 0.019 0.021 0.014 8 22 8 0.021 4 0 0 0 0 Benign 0.042 9959 chr2 152331418 152331418 C G rs1065177 RIF1 Nonsynonymous SNV L2392V 0.69 0.685 0.67 278 810 263 0.713 197 285 91 74 98 0.009 9960 chr12 52777578 52777578 C T rs1613931 KRT84 Nonsynonymous SNV R184Q 0.163 0.169 0.133 69 191 65 0.177 39 13 7 1 6 28.7 9961 chr11 93454524 93454524 T C rs17651231 CEP295 Synonymous SNV Y1932Y 0.066 0.065 0.071 13 78 25 0.033 21 3 0 0 0 0.022 9962 chr11 8009015 8009015 C T rs1043738 EIF3F Nonsynonymous SNV P39L 0.025 0.039 0.034 8 29 15 0.021 10 1 1 0 1 3.026 9963 chr12 101685852 101685852 G A rs11110737 UTP20 Synonymous SNV P381P 0.168 0.201 0.167 66 197 77 0.169 49 14 7 3 5 13.3 9964 chr2 152346494 152346494 A C rs13031275 NEB Synonymous SNV S6609S 0.037 0.031 0.031 10 44 12 0.026 9 0 2 0 0 Benign/Likely benign 7.482 9965 chr12 52777580 52777580 A C rs1613929 KRT84 Synonymous SNV V183V 0.163 0.169 0.133 69 191 65 0.177 39 13 7 1 6 11.13 9966 chr12 101689377 101689377 C G rs768818032 UTP20 Synonymous SNV P457P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 12.04 9967 chr12 52778947 52778947 A G rs1791631 KRT84 Synonymous SNV T141T 0.163 0.169 0.129 69 191 65 0.177 38 13 7 1 6 0.009 9968 chr2 152346979 152346979 T C rs1061305 NEB Nonsynonymous SNV I6546V 0.323 0.341 0.313 140 379 131 0.359 92 68 25 13 24 Benign 12.31 9969 chr12 52779244 52779244 A G rs1732304 KRT84 Synonymous SNV P42P 0.152 0.161 0.119 67 179 62 0.172 35 13 7 1 6 0.003 9970 chr12 101693534 101693534 C G rs4764643 UTP20 Nonsynonymous SNV S502C 0.204 0.219 0.187 76 239 84 0.195 55 24 11 4 6 23.7 9971 chr2 103142757 103142757 G A rs150367489 SLC9A4 Nonsynonymous SNV G664R 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 6.357 9972 chr12 52788928 52788928 G A rs2658658 KRT82 Nonsynonymous SNV T458M 0.44 0.474 0.439 178 517 182 0.456 129 112 41 24 40 23.4 9973 chr11 72145317 72145317 C T rs201839411 CLPB Nonsynonymous SNV A68T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.3 9974 chr2 152352843 152352843 C G rs7575451 NEB Nonsynonymous SNV A6289P 0.602 0.607 0.602 259 707 233 0.664 177 214 68 57 88 Benign 23.2 9975 chr12 101711355 101711355 C T rs758804530 UTP20 Synonymous SNV A884A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 12.52 9976 chr12 52788945 52788945 C G rs1732263 KRT82 Nonsynonymous SNV E452D 0.05 0.049 0.024 22 59 19 0.056 7 0 0 0 0 8.821 9977 chr2 152387553 152387553 T C rs4664475 NEB Synonymous SNV T5494T 0.566 0.586 0.575 244 664 225 0.626 169 186 63 52 78 Benign 7.434 9978 chr11 77412456 77412456 T C rs34717321 RSF1 Nonsynonymous SNV I606M 0.014 0.005 0.014 0 17 2 0 4 0 0 0 0 23.3 9979 chr12 101732655 101732655 C T rs56265469 UTP20 Synonymous SNV S1311S 0.297 0.255 0.265 107 349 98 0.274 78 46 13 14 18 14.61 9980 chr12 52818377 52818377 C T rs61730614 KRT75 Nonsynonymous SNV R527Q 0.107 0.112 0.109 50 126 43 0.128 32 5 3 2 4 23.7 9981 chr2 103334969 103334969 G A rs1052431 MFSD9 Synonymous SNV G384G 0.351 0.315 0.313 118 412 121 0.303 92 63 18 8 20 7.881 9982 chr2 152422076 152422076 C G rs2288210 NEB Nonsynonymous SNV R4401T 0.655 0.622 0.622 272 769 239 0.697 183 250 73 61 94 Benign 15.63 9983 chr2 103335646 103335646 A G rs115622745 MFSD9 Nonsynonymous SNV W159R 0.027 0.026 0.02 12 32 10 0.031 6 0 0 0 0 16.12 9984 chr12 52818504 52818504 T G rs298104 KRT75 Nonsynonymous SNV S485R 0.657 0.617 0.653 260 771 237 0.667 192 252 74 63 84 0.002 9985 chr11 7960232 7960232 G A rs138046496 OR10A3 Nonsynonymous SNV T279M 0.006 0.005 0.014 1 7 2 0.003 4 0 0 0 0 15.83 9986 chr11 92623877 92623877 G A rs12277422 FAT3 Synonymous SNV P4424P 0.26 0.206 0.272 90 305 79 0.231 80 42 6 16 6 10.12 9987 chr2 152422087 152422087 A G rs2288211 NEB Synonymous SNV Y4397Y 0.335 0.307 0.337 129 393 118 0.331 99 62 18 16 22 Benign 5.327 9988 chr11 93913036 93913036 A G rs12793348 PANX1 Nonsynonymous SNV I272V 0.119 0.138 0.092 39 140 53 0.1 27 4 4 1 4 0.001 9989 chr12 101776996 101776996 G C rs1061436 UTP20 Nonsynonymous SNV E2612Q 0.167 0.193 0.167 62 196 74 0.159 49 15 7 2 4 5.53 9990 chr12 52938364 52938364 T C rs2292507 KRT71 Synonymous SNV L508L 0.571 0.536 0.568 220 670 206 0.564 167 198 53 49 65 4.185 9991 chr2 152424933 152424933 - A rs3214503 NEB 0.536 0.51 0.432 220 629 196 0.564 127 165 42 23 54 9992 chr12 52938497 52938497 A C rs10783518 KRT71 Nonsynonymous SNV V464G 0.568 0.534 0.568 219 667 205 0.562 167 198 53 49 65 11.26 9993 chr2 152432311 152432311 T C rs33988153 NEB Synonymous SNV P3936P 0.23 0.255 0.259 84 270 98 0.215 76 32 12 12 8 Benign 3.171 9994 chr12 102036305 102036305 C T rs2293468 MYBPC1 Synonymous SNV D207D 0.296 0.299 0.316 120 348 115 0.308 93 48 17 14 15 Benign 18.3 9995 chr2 105472688 105472688 C G POU3F3 Synonymous SNV P240P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.4 9996 chr12 52946498 52946498 C T rs665470 KRT71 Nonsynonymous SNV E122K 0.227 0.242 0.207 82 267 93 0.21 61 28 12 7 11 22.9 9997 chr2 152486141 152486141 T C rs139548702 NEB Nonsynonymous SNV N3005S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 9998 chr12 102045163 102045163 C G rs3817552 MYBPC1 Nonsynonymous SNV H455Q 0.212 0.214 0.214 88 249 82 0.226 63 24 9 9 6 Benign 25.9 9999 chr11 94731404 94731404 G A rs782787300 KDM4D Nonsynonymous SNV A290T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 10000 chr12 52946543 52946543 C T rs665522 KRT71 Nonsynonymous SNV V107I 0.228 0.242 0.207 82 268 93 0.21 61 28 12 7 11 11.86 10001 chr2 152490219 152490219 A G rs6709886 NEB Synonymous SNV P3121P 0.641 0.604 0.602 259 753 232 0.664 177 239 72 58 84 Benign 0.052 10002 chr11 94731606 94731606 A G rs76057256 KDM4D Nonsynonymous SNV E357G 0.008 0.013 0.01 9 9 5 0.023 3 0 0 0 0 15.31 10003 chr11 8159843 8159843 G A rs73411617 RIC3 Nonsynonymous SNV P135S 0.045 0.057 0.065 19 53 22 0.049 19 1 0 0 0 8.864 10004 chr11 94862288 94862288 G A rs3740862 ENDOD1 Nonsynonymous SNV V350M 0.11 0.117 0.105 42 129 45 0.108 31 9 3 3 1 5.766 10005 chr2 105889349 105889349 G A rs11676273 TGFBRAP1 Synonymous SNV L645L 0.238 0.266 0.241 100 279 102 0.256 71 37 18 11 11 6.726 10006 chr2 152490458 152490458 A G rs6710212 NEB Nonsynonymous SNV C3042R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 9.498 10007 chr12 102069077 102069077 A G rs764291 MYBPC1 Synonymous SNV P888P 0.283 0.271 0.299 114 332 104 0.292 88 43 15 19 16 Benign 7.184 10008 chr12 52964498 52964498 G A rs749351683 KRT74 Synonymous SNV I321I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 10009 chr12 52965173 52965173 T G rs670741 KRT74 Nonsynonymous SNV E271D 0.659 0.659 0.67 269 774 253 0.69 197 263 79 64 88 17.64 10010 chr2 105897003 105897003 G A rs2241799 TGFBRAP1 Synonymous SNV N433N 0.138 0.143 0.167 51 162 55 0.131 49 15 4 6 4 8.878 10011 chr2 152500449 152500449 C G rs13013209 NEB Nonsynonymous SNV K2613N 0.42 0.443 0.435 182 493 170 0.467 128 102 32 23 36 Benign 31 10012 chr2 105924510 105924510 A G rs2241801 TGFBRAP1 Synonymous SNV R83R 0.451 0.453 0.446 170 529 174 0.436 131 122 44 33 43 0.006 10013 chr12 102079418 102079418 G A rs2764 MYBPC1 Synonymous SNV S1126S 0.601 0.602 0.602 235 705 231 0.603 177 210 68 54 68 Benign 0.003 10014 chr11 94758838 94758838 C T rs16921265 KDM4E Synonymous SNV G39G 0.048 0.055 0.054 31 56 21 0.079 16 0 0 1 2 13.04 10015 chr12 52965761 52965761 C T rs673449 KRT74 Synonymous SNV T238T 0.661 0.659 0.673 269 776 253 0.69 198 265 79 65 88 13.58 10016 chr2 105977761 105977761 G A rs11124029 FHL2 Synonymous SNV P159P 0.25 0.25 0.259 115 294 96 0.295 76 41 15 15 17 Benign 12.41 10017 chr12 52965782 52965782 T C rs673476 KRT74 Synonymous SNV E231E 0.658 0.656 0.67 269 773 252 0.69 197 263 79 64 88 0.335 10018 chr11 94759020 94759020 G A rs2020210 KDM4E Nonsynonymous SNV R100H 0.006 0.013 0.01 5 7 5 0.013 3 0 0 0 0 0.024 10019 chr11 82444021 82444021 T G rs66918959 FAM181B Nonsynonymous SNV S251R 0.191 0.195 0.259 64 224 75 0.164 76 20 7 7 2 25 10020 chr2 152527572 152527572 C T rs7426114 NEB Nonsynonymous SNV V1491M 0.835 0.859 0.827 334 980 330 0.856 243 413 142 99 145 Benign 25.8 10021 chr2 106682226 106682226 T C rs4271786 ECRG4 Synonymous SNV A2A 0.148 0.188 0.119 62 174 72 0.159 35 28 14 5 6 4.28 10022 chr12 52981627 52981627 A T rs7310138 KRT72 Nonsynonymous SNV D324E 0.175 0.167 0.194 58 206 64 0.149 57 20 5 7 6 8.357 10023 chr11 95528714 95528714 C T rs522536 CEP57 Synonymous SNV T3T 0.431 0.438 0.418 163 506 168 0.418 123 108 38 29 31 2.325 10024 chr2 106682235 106682235 C G rs4266035 ECRG4 Synonymous SNV P5P 0.158 0.203 0.122 63 185 78 0.162 36 28 15 5 6 11.77 10025 chr12 52985293 52985293 A G rs12824366 KRT72 Synonymous SNV I306I 0.401 0.419 0.388 168 471 161 0.431 114 104 34 21 32 0.573 10026 chr2 152531077 152531077 A G rs6711382 NEB Nonsynonymous SNV Y1301H 0.9 0.924 0.888 355 1057 355 0.91 261 476 164 116 165 Benign 14.24 10027 chr11 95555133 95555133 A G rs61903295 CEP57 Synonymous SNV P266P 0.045 0.044 0.048 17 53 17 0.044 14 3 0 0 0 Benign 16.59 10028 chr12 52986187 52986187 T C rs12833456 KRT72 Nonsynonymous SNV Y264C 0.401 0.419 0.388 168 471 161 0.431 114 104 34 21 32 26.1 10029 chr11 82444226 82444226 C A rs986096 FAM181B Synonymous SNV A182A 0.204 0.188 0.286 73 240 72 0.187 84 25 10 10 4 11.53 10030 chr11 95712897 95712897 G T rs7123133 MAML2 Nonsynonymous SNV P896T 0.137 0.125 0.085 54 161 48 0.138 25 16 5 0 5 6.759 10031 chr12 10278049 10278049 T C rs773988936 CLEC7A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.42 10032 chr2 152536498 152536498 T A rs6735208 NEB Nonsynonymous SNV K1027N 0.844 0.846 0.827 335 991 325 0.859 243 418 138 99 145 Benign 23.2 10033 chr12 52992812 52992812 T C rs11170187 KRT72 Nonsynonymous SNV N171D 0.401 0.419 0.374 168 471 161 0.431 110 104 34 20 32 22.9 10034 chr11 82895634 82895634 T C rs12272947 LOC100506282 0.104 0.102 0 42 122 39 0.108 0 15 2 0 5 0.014 10035 chr11 82895657 82895657 A G rs17144746 LOC100506282 0.118 0.12 0.014 39 139 46 0.1 4 13 2 1 5 0.023 10036 chr11 95713024 95713024 G A rs7123272 MAML2 Synonymous SNV H853H 0.135 0.125 0.085 53 159 48 0.136 25 15 5 0 4 0.026 10037 chr2 152573981 152573981 A G rs4611637 NEB Synonymous SNV A257A 0.845 0.846 0.82 336 992 325 0.862 241 418 138 98 146 Benign 8.233 10038 chr11 9607032 9607032 A G rs10770042 WEE1 Synonymous SNV E262E 0.116 0.107 0.099 41 136 41 0.105 29 10 2 2 1 8.695 10039 chr12 52994955 52994955 G A rs61747192 KRT72 Synonymous SNV P94P 0.158 0.133 0.133 68 185 51 0.174 39 19 1 3 6 12.4 10040 chr2 153378459 153378459 T C rs4664114 FMNL2 Synonymous SNV N40N 0.657 0.68 0.622 264 771 261 0.677 183 262 89 52 88 12.92 10041 chr12 103352171 103352171 - GCA rs3832799 ASCL1 Q62_A63insQ 0.169 0.182 0.224 77 198 70 0.197 66 31 10 1 11 10042 chr12 53004603 53004603 G A rs7302968 KRT73 Nonsynonymous SNV T376M 0.154 0.143 0.156 50 181 55 0.128 46 17 3 5 5 22.4 10043 chr12 103872172 103872172 T G rs10778257 C12orf42 Nonsynonymous SNV E11D 0.609 0.63 0.605 230 715 242 0.59 178 226 82 55 66 19.72 10044 chr2 153405594 153405594 G A rs1155779 FMNL2 Synonymous SNV L114L 0.485 0.523 0.548 206 569 201 0.528 161 142 52 43 55 5.725 10045 chr2 153476066 153476066 - CCA rs3080632 FMNL2 P573_L574insP 0.807 0.818 0.095 348 948 314 0.892 28 470 156 14 173 10046 chr12 104123911 104123911 C T rs10778281 STAB2 Synonymous SNV N1700N 0.132 0.159 0.095 43 155 61 0.11 28 11 3 2 3 9.874 10047 chr12 53004694 53004694 T C rs9739031 KRT73-AS1 0.158 0.133 0.136 69 185 51 0.177 40 19 1 3 6 3.498 10048 chr12 53011955 53011955 G A rs61736102 KRT73 Synonymous SNV N118N 0.168 0.146 0.139 77 197 56 0.197 41 20 1 3 6 10.24 10049 chr2 153533260 153533260 G A rs11544718 PRPF40A Synonymous SNV A254A 0.201 0.216 0.18 91 236 83 0.233 53 16 5 5 8 13.19 10050 chr12 53044267 53044267 C T rs638043 KRT2 Nonsynonymous SNV G219D 0.162 0.193 0.214 69 190 74 0.177 63 13 8 7 12 Benign 11.12 10051 chr2 155711357 155711357 T C rs17642086 KCNJ3 Synonymous SNV H346H 0.36 0.352 0.333 163 423 135 0.418 98 80 24 14 36 0.042 10052 chr2 157406249 157406249 G A rs2116665 GPD2 Nonsynonymous SNV R264H 0.733 0.719 0.755 299 861 276 0.767 222 307 97 78 118 11.61 10053 chr11 993907 993907 C G rs11538725 AP2A2 Synonymous SNV L569L 0.073 0.07 0.061 22 86 27 0.056 18 2 2 0 1 1.829 10054 chr12 104324231 104324237 GGGGTGG - rs62747560 MIR3652 0.169 0.169 0.167 59 198 65 0.151 49 17 4 3 5 10055 chr12 53045777 53045777 G A rs11835758 KRT2 Synonymous SNV G50G 0.508 0.51 0.439 207 596 196 0.531 129 144 55 31 52 Benign 4.308 10056 chr12 104341103 104341103 C T rs7645 HSP90B1 Synonymous SNV P759P 0.386 0.372 0.367 149 453 143 0.382 108 83 27 19 27 19.38 10057 chr12 53069223 53069243 ACCTCCGGAGCCGTAGCTGCT - rs267607656 KRT1 S557_G563del 0.451 0.435 0.432 171 529 167 0.438 127 111 37 26 34 10058 chr2 158157361 158157361 C T rs3214040 GALNT5 Synonymous SNV H763H 0.943 0.938 0.929 363 1107 360 0.931 273 523 171 127 168 12.46 10059 chr12 53070121 53070121 T G rs698170 KRT1 Synonymous SNV T471T 0.758 0.742 0.786 293 890 285 0.751 231 334 105 89 105 1.321 10060 chr11 831682 831682 C T rs35336339 CRACR2B Synonymous SNV G391G 0.009 0.01 0.014 2 11 4 0.005 4 0 0 0 0 11.09 10061 chr12 53070145 53070145 G A rs936958 KRT1 Synonymous SNV R463R 0.449 0.422 0.452 169 527 162 0.433 133 110 34 27 33 Benign 9.469 10062 chr2 158443889 158443889 G A rs4556933 ACVR1C Synonymous SNV F38F 0.423 0.385 0.401 147 497 148 0.377 118 95 32 23 30 12.2 10063 chr12 53085089 53085089 T C rs636127 KRT77 Nonsynonymous SNV R533G 0.98 0.974 0.969 381 1150 374 0.977 285 563 183 139 186 6.851 10064 chr2 158626980 158626980 C T rs1146031 ACVR1 Synonymous SNV E230E 0.989 0.979 0.98 383 1161 376 0.982 288 574 184 141 188 Benign 12.79 10065 chr12 104698582 104698582 A G rs11111987 EID3 Synonymous SNV Q290Q 0.572 0.573 0.578 221 672 220 0.567 170 177 66 52 59 0.003 10066 chr12 53086645 53086645 G A rs3782489 KRT77 Nonsynonymous SNV T367M 0.327 0.339 0.33 136 384 130 0.349 97 81 32 20 26 22.3 10067 chr2 158636910 158636910 G A rs2227861 ACVR1 Synonymous SNV A90A 0.756 0.802 0.745 317 887 308 0.813 219 335 121 83 127 Benign 14.37 10068 chr2 159028664 159028664 A T rs17805784 CCDC148 Synonymous SNV P433P 0.06 0.044 0.075 24 71 17 0.062 22 2 1 0 1 4.087 10069 chr12 53090190 53090190 C T rs7138818 KRT77 Synonymous SNV R261R 0.4 0.391 0.398 157 470 150 0.403 117 86 33 22 28 12.99 10070 chr2 159166069 159166069 T C rs7559772 CCDC148 Nonsynonymous SNV K183R 0.938 0.94 0.939 356 1101 361 0.913 276 515 171 130 161 0.003 10071 chr12 53091566 53091566 C A rs1567759 KRT77 Nonsynonymous SNV G220C 0.4 0.391 0.395 157 470 150 0.403 116 86 33 21 28 19.46 10072 chr12 53096913 53096913 G A rs1625862 KRT77 Synonymous SNV T102T 0.999 1 0.997 387 1173 384 0.992 293 586 192 146 193 3.768 10073 chr11 94862577 94862577 G T rs3740861 ENDOD1 Nonsynonymous SNV G446V 0.259 0.302 0.276 109 304 116 0.279 81 37 21 11 17 22.6 10074 chr2 159195282 159195282 C T rs16842890 CCDC148 Synonymous SNV Q94Q 0.108 0.146 0.133 66 127 56 0.169 39 12 5 0 7 9.52 10075 chr12 10532434 10532434 A G rs2617151 LOC101928100 0.407 0.43 0.779 173 478 165 0.444 229 227 78 91 81 0.194 10076 chr12 100774713 100774713 T C rs11568546 SLC17A8 Synonymous SNV D112D 0.023 0.021 0.01 8 27 8 0.021 3 0 0 0 0 Benign/Likely benign 3.266 10077 chr12 53162773 53162773 A G rs1464423 KRT76 Synonymous SNV S547S 0.865 0.854 0.854 339 1016 328 0.869 251 438 140 106 147 0.02 10078 chr12 105433523 105433523 T A rs4964317 ALDH1L2 Synonymous SNV G671G 0.396 0.419 0.357 148 465 161 0.379 105 102 41 17 25 11.17 10079 chr2 159196771 159196771 T C rs12620556 CCDC148 Nonsynonymous SNV M157V 0.108 0.146 0.133 66 127 56 0.169 39 11 5 0 7 0.002 10080 chr12 53164848 53164848 G A rs7313832 KRT76 Synonymous SNV N473N 0.495 0.518 0.49 182 581 199 0.467 144 154 57 38 39 11.76 10081 chr11 823586 823586 C G rs140201358 PNPLA2 Nonsynonymous SNV N252K 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign/Likely benign 23.5 10082 chr12 105434467 105434467 C T rs11112330 ALDH1L2 Synonymous SNV T623T 0.395 0.419 0.357 148 464 161 0.379 105 101 41 17 25 19.37 10083 chr11 8414229 8414229 G T rs35296353 STK33 Nonsynonymous SNV A271E 0.038 0.039 0.034 16 45 15 0.041 10 1 1 0 2 5.225 10084 chr11 94924726 94924726 G T SESN3 Nonsynonymous SNV L62I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 10085 chr12 53165940 53165940 C T rs6580904 KRT76 Nonsynonymous SNV A359T 0.836 0.82 0.83 327 981 315 0.838 244 407 130 101 136 24.5 10086 chr2 159497223 159497223 G A rs200556653 PKP4 Synonymous SNV A549A 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 13.95 10087 chr12 53165949 53165949 C T rs12296548 KRT76 Nonsynonymous SNV E356K 0.126 0.138 0.116 49 148 53 0.126 34 8 4 1 3 32 10088 chr2 159660870 159660870 C T rs17810398 DAPL1 Synonymous SNV F45F 0.155 0.125 0.139 56 182 48 0.144 41 13 3 3 5 15.86 10089 chr2 159663599 159663599 T C rs9869 DAPL1 Nonsynonymous SNV L60P 0.402 0.422 0.439 166 472 162 0.426 129 101 35 29 36 27 10090 chr11 74880349 74880349 G A rs770552231 SLCO2B1 Nonsynonymous SNV V50M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.085 10091 chr12 53171001 53171001 G A rs11170272 KRT76 Synonymous SNV S25S 0.098 0.135 0.109 38 115 52 0.097 32 4 3 4 1 4.273 10092 chr12 53185492 53185492 C T rs61929765 KRT3 Nonsynonymous SNV E433K 0.19 0.148 0.201 80 223 57 0.205 59 23 3 8 10 32 10093 chr2 159672251 159672251 C T rs61740880 DAPL1 Nonsynonymous SNV A81V 0.013 0.013 0.014 11 15 5 0.028 4 0 0 0 1 28.3 10094 chr12 10560957 10560957 T C rs2617170 KLRC4 Nonsynonymous SNV N104S 0.635 0.612 0.565 231 745 235 0.592 166 236 72 54 69 1.385 10095 chr11 95564259 95564259 A G rs644799 CEP57 Nonsynonymous SNV R422G 0.369 0.367 0.364 140 433 141 0.359 107 83 26 22 21 Benign 16.76 10096 chr12 53186122 53186122 G A rs4432093 KRT3 Synonymous SNV R363R 0.774 0.799 0.741 299 909 307 0.767 218 351 121 82 119 9.794 10097 chr12 53207583 53207583 - CACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG rs11267392 KRT4 G86_G87insAGGFGAGFGTGGFG 0.776 0.781 0.765 291 911 300 0.746 225 349 122 84 111 10098 chr2 160019863 160019863 A G rs12466551 TANC1 Nonsynonymous SNV N250S 0.991 0.995 0.99 387 1163 382 0.992 291 576 190 144 192 3.785 10099 chr12 53217701 53217701 C A rs10876354 KRT79 Synonymous SNV L372L 0.458 0.482 0.473 165 538 185 0.423 139 127 44 35 38 15.33 10100 chr12 10562025 10562025 C T rs1841957 KLRC4 Synonymous SNV S50S 0.634 0.604 0.52 228 744 232 0.585 153 235 70 54 67 8.444 10101 chr12 53227803 53227803 A G rs2638497 KRT79 Nonsynonymous SNV L81S 0.531 0.536 0.544 193 623 206 0.495 160 179 55 43 54 0.211 10102 chr11 95578270 95578270 C T rs113897932 MTMR2 Synonymous SNV T411T 0.029 0.021 0.017 7 34 8 0.018 5 0 1 0 0 Benign/Likely benign 12.96 10103 chr12 101560328 101560328 C A rs164365 SLC5A8 Nonsynonymous SNV M490I 0.219 0.279 0.231 101 257 107 0.259 68 28 18 9 16 8.661 10104 chr12 10562089 10562089 A C rs1841958 KLRC4 Nonsynonymous SNV I29S 0.661 0.635 0.439 241 776 244 0.618 129 255 74 49 75 0.001 10105 chr11 95580926 95580926 G A rs566204 MTMR2 Synonymous SNV T377T 0.376 0.378 0.388 143 442 145 0.367 114 83 26 22 22 Benign 9.553 10106 chr2 160035207 160035207 T C rs6748288 TANC1 Synonymous SNV N480N 0.991 0.995 0.986 387 1163 382 0.992 290 576 190 143 192 0.081 10107 chr12 53242440 53242440 A G rs2013335 KRT78 Nonsynonymous SNV L92P 0.569 0.542 0.571 230 668 208 0.59 168 187 61 48 68 27.5 10108 chr12 101561940 101561940 A T rs9634221 SLC5A8 Synonymous SNV G418G 0.106 0.167 0.119 48 125 64 0.123 35 8 4 4 5 0.067 10109 chr11 95657111 95657111 T G rs3824874 MTMR2 Nonsynonymous SNV K3T 0.256 0.258 0.384 106 301 99 0.272 113 79 26 23 21 Benign 16.23 10110 chr2 160112881 160112881 G T rs7591849 WDSUB1 Nonsynonymous SNV R197S 0.567 0.591 0.551 209 666 227 0.536 162 193 65 43 50 16.71 10111 chr12 101587518 101587518 C T rs1709189 SLC5A8 Nonsynonymous SNV V193I 0.218 0.276 0.228 102 256 106 0.262 67 28 18 9 16 19.39 10112 chr12 53294381 53294381 T C rs8608 KRT8 Synonymous SNV L227L 0.504 0.464 0.537 190 592 178 0.487 158 146 41 43 45 not provided 4.73 10113 chr2 160136337 160136337 G A rs174264 WDSUB1 Nonsynonymous SNV P4L 1 1 0.949 389 1174 384 0.997 279 587 192 139 194 17.84 10114 chr12 10658810 10658810 A C rs182270887 EIF2S3B Synonymous SNV R103R 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 0.003 10115 chr12 53439357 53439357 G - rs5798233 LOC283335 0 0 0.99 0 0 0 0 291 0 0 144 0 10116 chr12 53442956 53442956 G C rs12369033 TNS2 Nonsynonymous SNV R10T 0.658 0.648 0.626 271 773 249 0.695 184 253 80 53 95 3.204 10117 chr2 160289863 160289863 T C rs61733380 BAZ2B Synonymous SNV K372K 0.113 0.12 0.109 36 133 46 0.092 32 9 5 4 3 0.037 10118 chr12 53453433 53453433 G A rs11558984 TNS2 Nonsynonymous SNV A680T 0.032 0.042 0.027 10 38 16 0.026 8 1 0 1 0 0.001 10119 chr2 160604452 160604452 C T rs11555185 MARCHF7 Synonymous SNV D161D 0.347 0.349 0.306 117 407 134 0.3 90 73 22 14 16 8.764 10120 chr12 53509339 53509339 G T rs3219199 SOAT2 Synonymous SNV L203L 0.129 0.154 0.129 46 151 59 0.118 38 11 6 1 3 2.05 10121 chr2 160604936 160604936 G A rs13024801 MARCHF7 Nonsynonymous SNV G323S 0.138 0.122 0.156 46 162 47 0.118 46 16 4 4 3 3.952 10122 chr12 53509340 53509340 C T rs3219200 SOAT2 Synonymous SNV L204L 0.129 0.154 0.129 46 151 59 0.118 38 11 6 1 3 9.965 10123 chr12 106708170 106708170 A G rs769581950 TCP11L2 Synonymous SNV E64E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.949 10124 chr12 53605545 53605545 G A rs2229774 RARG Nonsynonymous SNV S405L 0.086 0.086 0.095 35 101 33 0.09 28 6 2 1 3 22.3 10125 chr2 160605268 160605268 T C rs1365803 MARCHF7 Synonymous SNV P433P 0.903 0.927 0.922 348 1060 356 0.892 271 476 166 125 156 0.034 10126 chr2 160673526 160673526 A G rs2059696 LY75, LY75-CD302 Nonsynonymous SNV Y1391H 0.315 0.31 0.306 113 370 119 0.29 90 61 15 18 16 23.6 10127 chr12 53647373 53647373 T C rs10876422 MFSD5 Synonymous SNV L359L 0.468 0.474 0.48 166 550 182 0.426 141 130 43 34 38 0.026 10128 chr12 106848414 106848414 A G rs17038460 POLR3B Nonsynonymous SNV T682A 0.07 0.078 0.078 38 82 30 0.097 23 3 1 1 4 Benign 23.6 10129 chr12 53662624 53662624 C A rs6580942 ESPL1 Nonsynonymous SNV A25D 0.676 0.682 0.694 251 794 262 0.644 204 266 85 73 79 9.484 10130 chr2 160676350 160676350 T C rs17827158 LY75, LY75-CD302 Nonsynonymous SNV K1347R 0.174 0.159 0.16 68 204 61 0.174 47 23 6 4 11 8.779 10131 chr12 107078448 107078448 C T rs10467029 LOC100505978 0.201 0.219 0.405 90 236 84 0.231 119 81 31 16 25 9.128 10132 chr12 53670545 53670545 C A rs1318648 ESPL1 Nonsynonymous SNV S614R 0.624 0.615 0.626 224 732 236 0.574 184 220 69 60 64 27 10133 chr12 107090201 107090201 T C rs10778502 RFX4 Synonymous SNV T176T 0.431 0.448 0.446 159 506 172 0.408 131 109 38 19 34 1.741 10134 chr2 160676427 160676427 C A rs12692566 LY75, LY75-CD302 Nonsynonymous SNV K1321N 0.799 0.768 0.796 301 938 295 0.772 234 383 117 96 115 15.75 10135 chr12 107372277 107372277 C T rs1043156 MTERF2 Synonymous SNV E72E 0.194 0.201 0.153 70 228 77 0.179 45 20 3 2 8 7.49 10136 chr12 53681883 53681883 A T rs1110719 ESPL1 Nonsynonymous SNV K1435M 0.996 0.995 0.983 385 1169 382 0.987 289 582 190 142 190 24.2 10137 chr2 160710922 160710922 T C rs2729705 LY75, LY75-CD302 Synonymous SNV A848A 0.432 0.466 0.476 152 507 179 0.39 140 130 45 39 34 4.54 10138 chr12 53682326 53682326 G A rs1110720 ESPL1 Synonymous SNV G1517G 0.624 0.612 0.622 224 733 235 0.574 183 220 68 59 65 3.611 10139 chr2 160711045 160711045 G C rs3951216 LY75, LY75-CD302 Nonsynonymous SNV D807E 0.526 0.479 0.527 220 617 184 0.564 155 184 51 47 67 9.754 10140 chr12 53682986 53682986 C T rs3214023 ESPL1 Synonymous SNV C1607C 0.618 0.591 0.595 249 725 227 0.638 175 227 68 52 83 15.53 10141 chr12 53686703 53686703 G A rs1056685 ESPL1 Nonsynonymous SNV R2037H 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 17.73 10142 chr12 102455729 102455729 G A rs3751129 WASHC3 Synonymous SNV D4D 0.188 0.201 0.184 85 221 77 0.218 54 20 6 6 8 13.52 10143 chr12 102108301 102108301 T C rs2066920 CHPT1 Synonymous SNV A147A 0.152 0.117 0.207 55 179 45 0.141 61 11 0 6 4 5.838 10144 chr12 107713542 107713542 C T rs79492704 BTBD11 Synonymous SNV S275S 0.082 0.063 0.054 33 96 24 0.085 16 4 1 0 2 5.163 10145 chr2 113887207 113887207 T C rs419598 IL1RN Synonymous SNV A57A 0.255 0.268 0.221 102 299 103 0.262 65 38 11 4 14 Benign 4.801 10146 chr2 160743040 160743040 T A rs2271381 LY75, LY75-CD302 Nonsynonymous SNV E268D 0.382 0.38 0.35 145 448 146 0.372 103 91 26 17 29 22.8 10147 chr12 53693532 53693532 A G rs1534284 C12orf10 Nonsynonymous SNV Q4R 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.002 10148 chr2 113890304 113890304 T C rs315952 IL1RN Synonymous SNV S130S 0.24 0.229 0.224 95 282 88 0.244 66 36 9 8 12 Benign 6.916 10149 chr11 866594 866594 C T rs202021523 TSPAN4 Synonymous SNV Y227Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.77 10150 chr2 113940681 113940681 T C rs3748914 PSD4 Synonymous SNV S216S 0.414 0.424 0.469 166 486 163 0.426 138 109 39 34 32 0.112 10151 chr12 53693533 53693533 A C rs1534283 C12orf10 Nonsynonymous SNV Q4H 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.033 10152 chr2 160808075 160808075 C T rs3828323 PLA2R1 Nonsynonymous SNV G1106S 0.368 0.401 0.401 135 432 154 0.346 118 81 30 29 26 0.02 10153 chr12 102517753 102517753 T C rs2036772 PARPBP Synonymous SNV T29T 0.203 0.221 0.197 85 238 85 0.218 58 24 10 4 9 9.421 10154 chr12 102224436 102224436 C T rs4764655 GNPTAB Synonymous SNV L6L 0.148 0.115 0.19 53 174 44 0.136 56 11 0 3 4 Benign 7.156 10155 chr11 86662680 86662680 A T FZD4 Nonsynonymous SNV L373Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 10156 chr2 113940839 113940839 G C rs4849167 PSD4 Nonsynonymous SNV G269A 0.412 0.427 0.466 165 484 164 0.423 137 108 39 33 31 14.56 10157 chr11 7663637 7663637 G A rs138206842 PPFIBP2 Synonymous SNV R399R 0.012 0.021 0.014 2 14 8 0.005 4 0 0 0 0 12.79 10158 chr12 102517804 102517804 G A rs2036771 PARPBP Synonymous SNV A46A 0.206 0.216 0.194 89 242 83 0.228 57 28 8 6 9 14.41 10159 chr12 53700848 53700848 C T rs1534282 C12orf10 Nonsynonymous SNV T349I 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 14.5 10160 chr2 160885418 160885418 G C rs35771982 PLA2R1 Nonsynonymous SNV H300D 0.331 0.333 0.391 124 389 128 0.318 115 64 23 25 18 0.007 10161 chr12 1022569 1022569 A C rs4987208 RAD52 Stop gain Y338X 0.018 0.013 0.02 7 21 5 0.018 6 0 0 0 0 Likely benign 35 10162 chr12 102545563 102545563 A G rs55772007 PARPBP Synonymous SNV A201A 0.205 0.216 0.19 89 241 83 0.228 56 28 8 5 9 0.734 10163 chr2 113943470 113943470 A G rs2241976 PSD4 Synonymous SNV G422G 0.427 0.445 0.486 168 501 171 0.431 143 115 40 37 33 0.472 10164 chr12 53700860 53700860 A G rs711316 C12orf10 Nonsynonymous SNV H353R 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 1.291 10165 chr2 160885442 160885442 T C rs3749117 PLA2R1 Nonsynonymous SNV M292V 0.336 0.339 0.408 127 395 130 0.326 120 65 24 25 19 7.175 10166 chr12 108686555 108686555 A C rs141421422 CMKLR1 Nonsynonymous SNV I62S 0.008 0.029 0.014 3 9 11 0.008 4 0 2 0 0 26.5 10167 chr12 53703021 53703021 G A rs1546808 AAAS Synonymous SNV F252F 0.996 0.995 0.986 386 1169 382 0.99 290 582 190 143 191 Benign 11.88 10168 chr2 113976146 113976146 T C rs368201100 PAX8 Synonymous SNV A439A 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Benign 0.004 10169 chr2 160901517 160901517 A G rs4665143 PLA2R1 Synonymous SNV S87S 0.505 0.563 0.514 209 593 216 0.536 151 151 65 39 53 8.156 10170 chr12 108912178 108912178 G A rs35664142 FICD Synonymous SNV A101A 0.043 0.029 0.027 13 50 11 0.033 8 1 0 0 1 0.008 10171 chr12 53722098 53722098 A G rs7138938 SP7 Synonymous SNV H376H 1 1 0.99 387 1174 384 0.992 291 587 192 144 192 Benign 0.001 10172 chr2 161029218 161029218 G A rs2305818 ITGB6 Synonymous SNV D166D 0.26 0.273 0.303 93 305 105 0.238 89 39 14 18 10 0.022 10173 chr12 53722128 53722128 G A rs7139272 SP7 Synonymous SNV S366S 0.974 0.956 0.946 376 1143 367 0.964 278 557 176 131 181 Benign 2.283 10174 chr12 100709420 100709420 C T rs10860577 SCYL2 Synonymous SNV L394L 0.174 0.172 0.187 67 204 66 0.172 55 16 5 7 5 13.58 10175 chr12 541040 541040 A G CCDC77 Nonsynonymous SNV I166V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 10176 chr2 161174693 161174693 C T rs1430 RBMS1 Synonymous SNV T99T 0.204 0.198 0.075 78 240 76 0.2 22 21 9 6 5 9.96 10177 chr12 108923950 108923950 A G rs1549096 SART3 Synonymous SNV D628D 0.825 0.813 0.704 306 969 312 0.785 207 407 128 83 119 0.182 10178 chr11 8706406 8706406 T G rs4670 RPL27A Synonymous SNV T95T 0.106 0.089 0.085 42 124 34 0.108 25 6 2 1 2 8.868 10179 chr11 87908502 87908502 G A rs36074402 RAB38 Synonymous SNV D17D 0.028 0.029 0.017 11 33 11 0.028 5 0 1 0 0 4.754 10180 chr2 162359983 162359983 T C rs12620974 AHCTF1P1 0.942 0.948 0.374 361 1106 364 0.926 110 519 174 54 168 4.971 10181 chr12 54367061 54367061 T G rs4759315 HOXC11 Synonymous SNV S12S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.757 10182 chr2 163128824 163128824 T C rs3747517 IFIH1 Nonsynonymous SNV H843R 0.735 0.76 0.707 285 863 292 0.731 208 317 110 72 102 Benign 11.42 10183 chr12 54385599 54385599 C T rs11614913 MIR196A2 0 0 0.323 0 0 0 0 95 0 0 16 0 17.82 10184 chr2 118575215 118575215 C G rs1052637 DDX18 Nonsynonymous SNV T94S 0.356 0.385 0.327 142 418 148 0.364 96 83 27 13 26 12.43 10185 chr11 87847209 87847209 G T rs116071834 RAB38 Nonsynonymous SNV P195T 0.02 0.034 0.017 10 24 13 0.026 5 0 1 0 0 19.64 10186 chr12 54394497 54394497 C T rs2241820 HOXC9 Synonymous SNV A175A 0.579 0.609 0.486 195 680 234 0.5 143 201 71 48 50 15.19 10187 chr2 163208893 163208893 T G rs17783344 GCA Nonsynonymous SNV S106A 0.204 0.221 0.163 76 240 85 0.195 48 23 12 5 7 19.48 10188 chr12 54448106 54448106 A G rs75256744 HOXC4 Nonsynonymous SNV I134V 0.223 0.224 0.167 96 262 86 0.246 49 24 11 6 11 0.574 10189 chr2 165424837 165424837 A G rs17437781 GRB14 Synonymous SNV I17I 0.457 0.414 0.425 199 536 159 0.51 125 125 36 21 57 15.49 10190 chr2 118771566 118771566 C A rs11545372 CCDC93 Synonymous SNV G2G 0.366 0.38 0.323 143 430 146 0.367 95 75 25 15 25 17.04 10191 chr12 54799450 54799450 A G rs1249378 ITGA5 Synonymous SNV D338D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.196 10192 chr2 165698547 165698547 G A rs2279982 COBLL1 Nonsynonymous SNV P3L 0.137 0.151 0.197 56 161 58 0.144 58 16 8 6 5 15.46 10193 chr2 119915249 119915249 T C rs7556873 C1QL2 Synonymous SNV V199V 0.652 0.661 0.612 256 766 254 0.656 180 249 84 53 84 4.078 10194 chr12 54905815 54905815 C G rs2458409 NCKAP1L Synonymous SNV L239L 0.793 0.763 0.806 306 931 293 0.785 237 372 111 95 119 10.16 10195 chr12 104373728 104373728 - A rs151041931 TDG Frameshift insertion I98Nfs*6 0.372 0.367 0.037 142 437 141 0.364 11 0 0 0 0 10196 chr12 54963142 54963142 C T rs151025806 PDE1B Synonymous SNV F114F 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 Benign 16.58 10197 chr12 109182049 109182049 T C rs3741778 SSH1 Synonymous SNV T955T 0.302 0.294 0.279 107 354 113 0.274 82 53 14 16 15 0.002 10198 chr12 104378698 104378698 - AGGATGCAAAGAAGATGGCT TDG Frameshift insertion V186Rfs*42 0.019 0.021 0.003 5 22 8 0.013 1 0 0 0 0 10199 chr2 165987772 165987772 T G rs62174900 SCN3A Synonymous SNV V800V 0.221 0.229 0.197 74 259 88 0.19 58 28 9 6 5 Benign 8.626 10200 chr12 101520689 101520689 A G rs1055734 ANO4 Synonymous SNV S903S 0.144 0.164 0.146 43 169 63 0.11 43 14 6 2 1 9.376 10201 chr12 104379506 104379506 - TTGAGAGC rs765686214 TDG Frameshift insertion V224Lfs*6 0.139 0.141 0 49 163 54 0.126 0 0 0 0 0 10202 chr12 54970454 54970454 T C rs1249950 PDE1B Synonymous SNV N288N 0.561 0.596 0.592 232 659 229 0.595 174 193 69 53 66 6.939 10203 chr12 104136316 104136316 C T rs2292688 STAB2 Synonymous SNV F2005F 0.064 0.044 0.037 17 75 17 0.044 11 2 0 0 1 18.79 10204 chr12 104379508 104379508 - GGAGTTAAGAGGAGAATC rs749286024 TDG 0.024 0.016 0 3 28 6 0.008 0 0 0 0 0 10205 chr2 165996107 165996107 T A rs1946892 SCN3A Synonymous SNV T628T 0.428 0.453 0.446 169 503 174 0.433 131 113 37 27 32 Benign 10.23 10206 chr12 54974803 54974803 C T rs8407 PPP1R1A Synonymous SNV E145E 0.358 0.346 0.361 168 420 133 0.431 106 79 28 19 31 11.58 10207 chr2 120069281 120069281 - A rs112925717 C2orf76 0.041 0.039 0.054 17 48 15 0.044 16 1 1 1 0 10208 chr2 166003479 166003479 G A rs16850131 SCN3A Synonymous SNV L481L 0.221 0.234 0.197 79 260 90 0.203 58 29 9 4 7 Benign 9.381 10209 chr12 54975837 54975837 T C rs1249958 PPP1R1A Nonsynonymous SNV E109G 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 2.033 10210 chr12 104208868 104208868 C T rs10861107 NT5DC3 Synonymous SNV L80L 0.198 0.177 0.197 67 232 68 0.172 58 20 2 5 1 12.75 10211 chr2 166152389 166152389 G A rs17183814 SCN2A Nonsynonymous SNV R19K 0.051 0.076 0.068 21 60 29 0.054 20 1 1 1 1 Benign 10.94 10212 chr12 55002014 55002014 C T rs1795819 GLYCAM1 0 0 0.605 0 0 0 0 178 0 0 54 0 5.357 10213 chr12 55002053 55002053 C G rs1795818 GLYCAM1 0 0 0.575 0 0 0 0 169 0 0 48 0 10.15 10214 chr12 55002065 55002065 G A rs1716356 GLYCAM1 0 0 0.997 0 0 0 0 293 0 0 146 0 1.825 10215 chr2 166535918 166535918 C T rs777346 CSRNP3 Synonymous SNV T471T 0.454 0.427 0.35 186 533 164 0.477 103 123 39 20 45 5.961 10216 chr12 55004150 55004150 C A rs937308 GLYCAM1 0 0 0.99 0 0 0 0 291 0 0 144 0 8.077 10217 chr12 55250612 55250612 A G rs1349910 MUCL1 Synonymous SNV A53A 0.962 0.943 0.959 377 1129 362 0.967 282 543 170 135 183 0.025 10218 chr2 166770120 166770120 A G rs10176588 TTC21B Synonymous SNV F725F 0.37 0.378 0.299 157 434 145 0.403 88 78 26 14 35 Benign 0.07 10219 chr12 55368245 55368245 G A rs4758993 TESPA1 Synonymous SNV A34A 0.271 0.281 0.259 120 318 108 0.308 76 44 18 12 13 11.2 10220 chr12 105520069 105520069 G T rs34434425 WASHC4 Nonsynonymous SNV V323L 0.007 0.013 0.014 1 8 5 0.003 4 0 0 0 0 25.2 10221 chr2 166773971 166773971 G A rs6750044 TTC21B Synonymous SNV Y565Y 0.371 0.38 0.248 159 435 146 0.408 73 78 26 14 35 Benign 7.773 10222 chr12 55523587 55523587 T - rs398102299 OR9K2 L13Cfs*22 0.381 0.388 0.398 135 447 149 0.346 117 83 34 26 20 10223 chr12 55523685 55523685 C T rs12303066 OR9K2 Nonsynonymous SNV R45C 0.38 0.388 0.401 135 446 149 0.346 118 82 34 26 20 12.71 10224 chr2 166788336 166788336 T C rs7592429 TTC21B Nonsynonymous SNV T276A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 0.582 10225 chr2 166797646 166797646 C T rs1432273 TTC21B Nonsynonymous SNV V201M 0.627 0.615 0.694 227 736 236 0.582 204 227 70 71 68 Benign 26.1 10226 chr12 55523860 55523860 A C rs7305779 OR9K2 Nonsynonymous SNV E103A 0.38 0.388 0.401 135 446 149 0.346 118 82 34 26 20 3.426 10227 chr12 109684125 109684125 G A rs61752535 ACACB Nonsynonymous SNV E1815K 0.053 0.055 0.051 30 62 21 0.077 15 0 1 2 1 26.8 10228 chr12 55524172 55524172 G A rs7306491 OR9K2 Nonsynonymous SNV R207H 0.381 0.388 0.401 135 447 149 0.346 118 83 34 26 20 13.96 10229 chr2 166892788 166892788 C T rs2298771 SCN1A Nonsynonymous SNV A1067T 0.567 0.57 0.48 242 666 219 0.621 141 189 61 35 72 Benign 12.04 10230 chr12 109692053 109692053 C T rs17848835 ACACB Nonsynonymous SNV T2027I 0.091 0.073 0.078 41 107 28 0.105 23 5 1 2 2 13.56 10231 chr12 105589122 105589122 G A rs34775780 APPL2 Synonymous SNV V392V 0.007 0.013 0.014 1 8 5 0.003 4 0 0 0 0 15.18 10232 chr12 55524314 55524314 T C rs7137261 OR9K2 Synonymous SNV H254H 0.381 0.391 0.401 135 447 150 0.346 118 83 34 26 20 0.001 10233 chr2 166897864 166897864 A G rs6432860 SCN1A Synonymous SNV V764V 0.567 0.57 0.486 242 666 219 0.621 143 189 61 35 72 Benign 1.089 10234 chr12 55641075 55641075 A G rs7301705 OR6C74 Nonsynonymous SNV R2G 0.374 0.38 0.367 134 439 146 0.344 108 80 33 26 20 4.732 10235 chr2 166903445 166903445 T C rs7580482 SCN1A Synonymous SNV V404V 0.567 0.57 0.476 242 666 219 0.621 140 189 61 35 72 Benign 7.918 10236 chr2 121708956 121708956 G A rs149180414 GLI2 Nonsynonymous SNV R6H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 34 10237 chr12 55641255 55641255 C T rs4522268 OR6C74 Stop gain R62X 0.376 0.383 0.391 134 441 147 0.344 115 80 33 26 20 35 10238 chr2 167099158 167099158 A G rs6746030 SCN9A Nonsynonymous SNV W1161R 0.857 0.839 0.84 325 1006 322 0.833 247 434 133 103 138 Benign 9.092 10239 chr12 109725688 109725688 G A rs7959782 FOXN4 Synonymous SNV A143A 0.048 0.039 0.068 36 56 15 0.092 20 0 1 1 0 9.934 10240 chr12 109725707 109725707 G A rs11609341 FOXN4 Nonsynonymous SNV P137L 0.034 0.029 0.017 11 40 11 0.028 5 1 0 0 0 17.25 10241 chr12 55641295 55641295 A G rs4388990 OR6C74 Nonsynonymous SNV Y75C 0.376 0.383 0.401 134 441 147 0.344 118 80 33 26 20 0.003 10242 chr2 167144974 167144974 A T rs6747673 SCN9A Synonymous SNV R429R 0.465 0.419 0.466 187 546 161 0.479 137 123 43 37 44 Benign 0.767 10243 chr11 89896138 89896138 T C rs143548011 NAALAD2 Synonymous SNV Y304Y 0.027 0.026 0.017 7 32 10 0.018 5 0 0 0 0 1.053 10244 chr12 106460938 106460938 G C rs3741883 NUAK1 Nonsynonymous SNV P543R 0.267 0.247 0.245 96 313 95 0.246 72 47 10 5 17 17.34 10245 chr2 167144995 167144995 T C rs13402180 SCN9A Synonymous SNV E422E 0.354 0.302 0.357 148 416 116 0.379 105 70 24 25 29 Benign 7.816 10246 chr12 55641328 55641328 G A rs6581025 OR6C74 Nonsynonymous SNV G86D 0.374 0.383 0.401 134 439 147 0.344 118 80 33 26 20 25.1 10247 chr11 77412344 77412344 C T rs140281656 RSF1 Nonsynonymous SNV E644K 0.008 0.013 0.007 5 9 5 0.013 2 0 0 0 0 15.13 10248 chr2 167145142 167145142 A G rs13414203 SCN9A Synonymous SNV A373A 0.279 0.25 0.374 133 327 96 0.341 110 70 24 25 29 Benign 9.833 10249 chr12 55688267 55688267 G A rs7308594 OR6C6 Synonymous SNV Y250Y 0.72 0.701 0.701 279 845 269 0.715 206 296 90 74 97 6.342 10250 chr12 109826634 109826634 C A rs11611277 MYO1H Nonsynonymous SNV S37R 0.234 0.214 0.248 84 275 82 0.215 73 34 10 10 6 13.57 10251 chr12 106460856 106460856 A G rs7136283 NUAK1 Synonymous SNV S570S 0.043 0.031 0.017 19 51 12 0.049 5 0 0 0 0 0.073 10252 chr2 169707428 169707428 C T rs540652 NOSTRIN Nonsynonymous SNV T238I 0.409 0.398 0.367 175 480 153 0.449 108 95 37 23 41 0.28 10253 chr12 55714406 55714406 - A rs5798345 OR6C1 Frameshift insertion E9Rfs*10 0.423 0.427 0.415 163 497 164 0.418 122 110 36 31 34 10254 chr12 10658507 10658507 G A rs10845152 EIF2S3B Synonymous SNV A2A 0.267 0.25 0.187 105 314 96 0.269 55 41 14 4 16 8.118 10255 chr12 55714772 55714772 G A rs7132431 OR6C1 Nonsynonymous SNV C130Y 0.808 0.784 0.803 313 949 301 0.803 236 384 120 99 124 0.016 10256 chr11 9069032 9069032 C T rs72550810 SCUBE2 Nonsynonymous SNV V470I 0.005 0 0.01 1 6 0 0.003 3 1 0 0 0 15.96 10257 chr2 169716114 169716114 T C rs34073293 NOSTRIN Synonymous SNV P354P 0.064 0.078 0.095 30 75 30 0.077 28 4 3 2 0 2.918 10258 chr12 10658919 10658919 A G rs113302251 EIF2S3B Nonsynonymous SNV I140V 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 1.417 10259 chr12 102108345 102108345 T C rs3205421 CHPT1 Nonsynonymous SNV F162S 0.301 0.359 0.262 133 353 138 0.341 77 48 25 8 19 28.2 10260 chr12 55714876 55714876 C G rs7132347 OR6C1 Nonsynonymous SNV H165D 0.808 0.784 0.827 313 949 301 0.803 243 384 120 101 124 0.273 10261 chr2 169721363 169721363 C T rs368861114 NOSTRIN Synonymous SNV H440H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.74 10262 chr11 92086513 92086513 C T rs10830902 FAT3 Nonsynonymous SNV S412F 0.038 0.042 0.054 11 45 16 0.028 16 1 0 0 0 22.8 10263 chr12 10659228 10659228 A T rs11053826 EIF2S3B Nonsynonymous SNV I243F 0.272 0.255 0.194 107 319 98 0.274 57 44 14 4 16 22.1 10264 chr2 169721377 169721377 G A rs479661 NOSTRIN Nonsynonymous SNV G445E 0.822 0.81 0.796 327 965 311 0.838 234 395 128 91 136 14.75 10265 chr2 121989489 121989489 G A rs2304667 TFCP2L1 Synonymous SNV I418I 0.522 0.552 0.507 190 613 212 0.487 149 157 61 41 46 14.63 10266 chr12 55715119 55715119 G A rs7132916 OR6C1 Nonsynonymous SNV V246I 0.808 0.784 0.827 313 949 301 0.803 243 384 120 101 124 10.32 10267 chr2 122125213 122125213 G A rs116176232 CLASP1 Synonymous SNV T1212T 0.017 0.023 0.037 10 20 9 0.026 11 0 0 0 0 Benign 6.078 10268 chr11 92086649 92086649 G A rs10830903 FAT3 Synonymous SNV Q457Q 0.038 0.042 0.054 11 45 16 0.028 16 1 0 0 0 0.007 10269 chr2 169764176 169764176 G C rs492594 G6PC2 Nonsynonymous SNV V219L 0.454 0.466 0.378 193 533 179 0.495 111 118 43 16 42 2.779 10270 chr11 92088177 92088177 C T rs7479732 FAT3 Synonymous SNV L967L 0.215 0.206 0.255 83 252 79 0.213 75 22 6 6 8 7.793 10271 chr12 55794976 55794976 A G rs7971073 OR6C65 Nonsynonymous SNV T222A 0.822 0.867 0.806 336 965 333 0.862 237 398 147 96 145 18.79 10272 chr12 107395720 107395720 T A rs200162469 CRY1 Synonymous SNV I139I 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.99 10273 chr2 169789016 169789016 T C rs497692 ABCB11 Synonymous SNV A1028A 0.532 0.534 0.52 226 625 205 0.579 153 165 55 34 63 Benign 0.495 10274 chr12 55820121 55820121 C T rs6581046 OR6C76 Synonymous SNV F28F 0.629 0.641 0.65 260 739 246 0.667 191 233 83 62 84 7.209 10275 chr2 127656857 127656857 G A rs61730218 TEX51 Synonymous SNV T70T 0.155 0.169 0.109 62 182 65 0.159 32 19 2 1 6 5.596 10276 chr12 55863381 55863381 A G rs10747756 OR6C70 Nonsynonymous SNV L181P 0.791 0.776 0.823 306 929 298 0.785 242 369 119 100 120 0.011 10277 chr2 169824976 169824976 G A rs200912109 ABCB11 Nonsynonymous SNV A679V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.653 10278 chr2 127656861 127656861 C T rs61730220 TEX51 Stop gain R72X 0.129 0.151 0.099 59 152 58 0.151 29 13 2 1 6 35 10279 chr12 55863398 55863398 G A rs12313730 OR6C70 Synonymous SNV F175F 0.303 0.305 0.34 118 356 117 0.303 100 59 21 22 15 2.288 10280 chr2 169830328 169830328 A G rs2287622 ABCB11 Nonsynonymous SNV V444A 0.646 0.669 0.602 257 758 257 0.659 177 245 87 57 86 Benign 15.16 10281 chr12 55886294 55886294 G A rs7133698 OR6C68 Nonsynonymous SNV A45T 0.628 0.646 0.646 259 737 248 0.664 190 232 85 61 83 0.002 10282 chr2 169952233 169952233 T C rs1059261 DHRS9 Synonymous SNV L306L 0.188 0.198 0.214 96 221 76 0.246 63 23 4 5 10 2.845 10283 chr12 55945119 55945119 A G rs7313899 OR6C4 Nonsynonymous SNV I37V 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 0.008 10284 chr11 92569867 92569867 C T rs200404766 FAT3 Nonsynonymous SNV R3408W 0.01 0.01 0 0 12 4 0 0 0 0 0 0 35 10285 chr11 78380199 78380199 C T rs61745709 TENM4 Synonymous SNV Q2397Q 0.088 0.065 0.054 23 103 25 0.059 16 4 1 0 0 5.545 10286 chr12 106903321 106903321 T C rs13561 POLR3B Synonymous SNV N1074N 0.319 0.273 0.316 110 374 105 0.282 93 72 15 10 17 Benign 7.304 10287 chr2 169997051 169997051 G A rs990626 LRP2 Synonymous SNV I4371I 0.76 0.828 0.697 295 892 318 0.756 205 343 137 73 112 Benign 14.46 10288 chr12 108589877 108589877 G A rs567605529 WSCD2 Nonsynonymous SNV G90R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 33 10289 chr12 56030938 56030938 C T rs10876838 OR10P1 Nonsynonymous SNV P88L 0.49 0.492 0.551 200 575 189 0.513 162 138 46 49 48 5.114 10290 chr2 170003432 170003432 T G rs4667591 LRP2 Nonsynonymous SNV I4210L 0.844 0.867 0.847 333 991 333 0.854 249 418 146 106 139 Benign 31 10291 chr12 104048454 104048454 C A rs1609860 STAB2 Nonsynonymous SNV P510H 0.088 0.063 0.116 28 103 24 0.072 34 2 1 1 0 25.7 10292 chr2 128367092 128367092 G A rs777432 MYO7B Synonymous SNV S942S 0.421 0.414 0.456 175 494 159 0.449 134 88 40 32 40 7.978 10293 chr12 56031273 56031273 G A rs7970885 OR10P1 Nonsynonymous SNV V200M 0.482 0.492 0.551 200 566 189 0.513 162 134 46 49 48 23.3 10294 chr2 170010985 170010985 T C rs2075252 LRP2 Nonsynonymous SNV K4094E 0.829 0.859 0.786 321 973 330 0.823 231 403 142 92 132 Benign 16.49 10295 chr2 128388790 128388790 G A rs13025791 MYO7B Synonymous SNV E1623E 0.254 0.216 0.286 97 298 83 0.249 84 32 13 13 16 0.456 10296 chr2 128388862 128388862 G C rs13025959 MYO7B Nonsynonymous SNV E1647D 0.254 0.216 0.286 97 298 83 0.249 84 32 13 13 16 22.9 10297 chr12 10763236 10763236 G C rs10845182 MAGOHB Synonymous SNV V46V 0.518 0.552 0.503 225 608 212 0.577 148 269 97 64 106 6.652 10298 chr12 5603632 5603632 G A rs6332 NTF3 Synonymous SNV P84P 0.542 0.474 0.561 216 636 182 0.554 165 180 40 44 59 5.658 10299 chr11 78516507 78516507 C T rs376494916 TENM4 Nonsynonymous SNV R670Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 10300 chr2 170032989 170032989 C T rs2229265 LRP2 Synonymous SNV Q3501Q 0.567 0.568 0.493 223 666 218 0.572 145 187 69 32 65 Benign 2.762 10301 chr12 56089357 56089357 C T rs1800974 ITGA7 Nonsynonymous SNV R203H 0.494 0.464 0.486 197 580 178 0.505 143 130 37 36 47 Benign 18.52 10302 chr2 170053505 170053505 C T rs2228171 LRP2 Nonsynonymous SNV A2872T 0.188 0.133 0.184 50 221 51 0.128 54 25 5 5 5 Benign 0.003 10303 chr12 110019233 110019233 G A rs34368092 MVK Synonymous SNV S135S 0.047 0.039 0.048 29 55 15 0.074 14 0 0 0 2 Benign 5.682 10304 chr2 128393800 128393800 T C rs2255161 MYO7B Synonymous SNV Y1982Y 0.253 0.208 0.286 103 297 80 0.264 84 32 13 14 16 0.085 10305 chr11 9087475 9087475 C G SCUBE2 Synonymous SNV V271V 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 11.41 10306 chr12 56096884 56096884 C A rs17854601 ITGA7 Synonymous SNV P95P 0.048 0.055 0.037 11 56 21 0.028 11 2 1 2 1 Conflicting interpretations of pathogenicity 17.87 10307 chr2 128394955 128394955 A G rs11686946 MYO7B Nonsynonymous SNV Q2105R 0.256 0.211 0.289 105 300 81 0.269 85 35 13 14 16 11.23 10308 chr11 92895920 92895920 T C rs78676517 SLC36A4 Nonsynonymous SNV H195R 0.07 0.086 0.065 39 82 33 0.1 19 0 0 1 2 5.738 10309 chr12 56236531 56236531 A G rs7294345 MMP19 Synonymous SNV P28P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.008 10310 chr2 170070172 170070172 C T rs4667596 LRP2 Nonsynonymous SNV R2012K 0.013 0.005 0.01 2 15 2 0.005 3 0 0 0 0 Benign 17.88 10311 chr12 110222146 110222146 C G rs34071623 TRPV4 Synonymous SNV S704S 0.014 0.008 0.01 7 16 3 0.018 3 0 0 0 0 Benign/Likely benign 14.24 10312 chr12 56295734 56295734 A G rs7302270 PYM1 Synonymous SNV P178P 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 4.24 10313 chr12 110238487 110238487 A G rs3742034 TRPV4 Synonymous SNV D263D 0.083 0.107 0.099 32 97 41 0.082 29 6 4 1 1 Benign 0.094 10314 chr12 56335107 56335107 A G rs1136082 DGKA Synonymous SNV Q37Q 0.823 0.839 0.874 336 966 322 0.862 257 399 137 111 146 12.56 10315 chr2 170088351 170088351 G A rs2302694 LRP2 Synonymous SNV S1700S 0.117 0.099 0.156 52 137 38 0.133 46 10 0 1 1 Benign 3.454 10316 chr12 56348028 56348028 G A rs1052206 PMEL Synonymous SNV N566N 0.81 0.82 0.85 335 951 315 0.859 250 386 130 104 145 9.661 10317 chr2 128408631 128408631 G A rs561460014 GPR17 Nonsynonymous SNV G108S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 10318 chr12 56360876 56360876 G A rs2069398 CDK2 Synonymous SNV E28E 0.066 0.068 0.058 19 78 26 0.049 17 3 1 0 0 16.49 10319 chr2 170129528 170129528 G A rs830994 LRP2 Synonymous SNV V675V 0.726 0.693 0.721 286 852 266 0.733 212 305 97 75 107 Benign 14.11 10320 chr12 56398454 56398454 G C rs773115 SUOX Synonymous SNV S427S 0.922 0.917 0.918 368 1082 352 0.944 270 498 161 124 173 Benign 2.931 10321 chr12 108096769 108096769 G C rs11547907 PWP1 Nonsynonymous SNV L226F 0.028 0.034 0.044 17 33 13 0.044 13 0 0 0 1 19.96 10322 chr2 170163816 170163816 G T rs34104660 LRP2 Synonymous SNV P134P 0.106 0.115 0.105 41 125 44 0.105 31 7 2 4 0 Benign/Likely benign 2.735 10323 chr12 56487201 56487201 T C rs2229046 ERBB3 Synonymous SNV I449I 0.077 0.083 0.054 19 90 32 0.049 16 4 2 0 0 10.23 10324 chr12 56494991 56494991 G A rs2271189 ERBB3 Synonymous SNV R1116R 0.333 0.294 0.323 138 391 113 0.354 95 64 15 12 19 5.715 10325 chr2 170175334 170175334 T C rs2229263 LRP2 Nonsynonymous SNV N83S 0.295 0.31 0.286 115 346 119 0.295 84 47 20 11 17 Benign 0.001 10326 chr12 104461767 104461767 C T rs150909028 HCFC2 Nonsynonymous SNV P119S 0.007 0.008 0.02 4 8 3 0.01 6 0 0 0 0 7.731 10327 chr12 56494998 56494998 A T rs773123 ERBB3 Nonsynonymous SNV S1119C 0.092 0.107 0.068 24 108 41 0.062 20 6 1 0 0 23.8 10328 chr12 11091693 11091693 T A rs7138535 TAS2R14 Synonymous SNV G38G 0.209 0.24 0.187 83 245 92 0.213 55 27 12 4 7 0.645 10329 chr12 108910962 108910962 C T rs2303634 FICD Synonymous SNV A71A 0.04 0.044 0.061 21 47 17 0.054 18 0 0 0 1 12.25 10330 chr12 111020740 111020742 CGC - rs151075597 PPTC7 G32del 0.043 0.055 0.071 24 50 21 0.062 21 1 1 2 2 10331 chr2 170218847 170218847 C G rs1559014 LRP2 Synonymous SNV A21A 1 1 0.963 387 1174 384 0.992 283 587 192 141 193 Benign 18.51 10332 chr12 56531154 56531154 T C rs2271192 ESYT1 Synonymous SNV T655T 0.104 0.13 0.088 29 122 50 0.074 26 7 2 0 0 2.726 10333 chr12 56647911 56647911 G C rs808919 ANKRD52 Synonymous SNV S282S 0.976 0.961 0.956 374 1146 369 0.959 281 560 177 134 179 9.29 10334 chr12 109183003 109183003 C G rs79427084 SSH1 Synonymous SNV G637G 0.038 0.036 0.041 19 45 14 0.049 12 1 0 0 1 12.37 10335 chr2 170367099 170367099 G A rs28763868 KLHL41 Nonsynonymous SNV A271T 0.13 0.104 0.092 36 153 40 0.092 27 9 5 1 3 Benign 0.001 10336 chr12 56649601 56649601 A G rs1274490 ANKRD52 Synonymous SNV A143A 0.976 0.961 0.942 374 1146 369 0.959 277 560 177 132 179 4.354 10337 chr12 109490426 109490426 - CGGCGG rs140371213 USP30-AS1 0.264 0.201 0.228 106 310 77 0.272 67 121 24 25 44 10338 chr12 56722060 56722060 T G rs1918496 PAN2 Nonsynonymous SNV I179L 0.994 0.992 0.983 387 1167 381 0.992 289 580 189 142 192 0.612 10339 chr2 170403030 170403030 T C rs2253680 FASTKD1 Nonsynonymous SNV M444V 0.59 0.63 0.68 252 693 242 0.646 200 206 78 69 83 0.001 10340 chr11 9455374 9455374 T C rs4910052 IPO7 Synonymous SNV D685D 0.029 0.039 0.003 18 34 15 0.046 1 0 0 0 1 0.362 10341 chr12 5674754 5674754 G A rs2277398 ANO2 Synonymous SNV S899S 0.429 0.461 0.442 176 504 177 0.451 130 121 43 32 41 11.29 10342 chr12 11150240 11150240 T C rs7135018 TAS2R20 Nonsynonymous SNV K79E 0.193 0.224 0.187 75 227 86 0.192 55 22 9 4 7 0.001 10343 chr12 108941700 108941700 C G rs11113986 SART3 Synonymous SNV V169V 0.041 0.039 0.065 21 48 15 0.054 19 0 0 1 1 12.15 10344 chr11 82879825 82879825 G A rs75717911 PCF11 Synonymous SNV G947G 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 4.468 10345 chr12 56814653 56814653 G A rs2291739 TIMELESS Nonsynonymous SNV P1017L 0.459 0.424 0.466 200 539 163 0.513 137 123 34 28 48 25.8 10346 chr2 170411693 170411693 T C rs2683455 FASTKD1 Synonymous SNV L362L 0.652 0.693 0.622 267 765 266 0.685 183 247 94 80 95 0.432 10347 chr2 131127696 131127696 C T rs143569890 PTPN18 Nonsynonymous SNV L101F 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 24.6 10348 chr11 92715117 92715117 A G rs61747139 MTNR1B Nonsynonymous SNV K243R 0.052 0.034 0.034 22 61 13 0.056 10 1 0 0 0 0.09 10349 chr2 170592709 170592709 A G rs2288331 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV K395K 0.197 0.221 0.173 62 231 85 0.159 51 27 13 3 5 0.398 10350 chr12 56815922 56815922 C T rs774047 TIMELESS Nonsynonymous SNV R830Q 0.546 0.576 0.534 190 641 221 0.487 157 174 64 37 43 22.3 10351 chr12 10958845 10958845 - A rs200711805 TAS2R8 Frameshift insertion L246Pfs*12 0.011 0.008 0.024 4 13 3 0.01 7 0 0 0 0 10352 chr2 170605981 170605981 C T rs4667607 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV G472G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.77 10353 chr12 112036754 112036756 GCT - rs10560189 ATXN2 Q28del 0.777 0.729 0.197 285 912 280 0.731 58 427 131 29 129 10354 chr12 10958896 10958896 T G rs143804727 TAS2R8 Nonsynonymous SNV E228D 0.014 0.01 0.027 4 17 4 0.01 8 0 0 0 0 17.54 10355 chr2 170678476 170678476 G A rs35417312 METTL5 Synonymous SNV I67I 0.046 0.044 0.065 11 54 17 0.028 19 3 1 0 0 13.6 10356 chr12 56822378 56822378 T A rs774027 TIMELESS Nonsynonymous SNV I454L 0.546 0.576 0.534 192 641 221 0.492 157 174 64 37 43 4.057 10357 chr12 112036797 112036797 C T rs4098854 ATXN2 Synonymous SNV Q14Q 0.678 0.63 0.19 231 796 242 0.592 56 312 91 26 80 Likely benign 6.811 10358 chr2 170684224 170684224 C T rs2303555 UBR3 Synonymous SNV A69A 0.453 0.401 0.48 179 532 154 0.459 141 233 65 55 71 10.09 10359 chr12 56825311 56825311 C T rs774033 TIMELESS Synonymous SNV V254V 0.546 0.576 0.534 192 641 221 0.492 157 174 64 37 43 15.32 10360 chr12 11214145 11214145 C T rs2708381 TAS2R46 Stop gain W250X 0.174 0.198 0.177 67 204 76 0.172 52 0 0 1 0 35 10361 chr2 170728872 170728872 C T rs56240917 UBR3 Synonymous SNV G224G 0.052 0.031 0.034 16 61 12 0.041 10 3 0 0 0 11.74 10362 chr12 56827694 56827694 C G rs2279665 TIMELESS Synonymous SNV L38L 0.454 0.424 0.452 198 533 163 0.508 133 120 35 26 46 11.71 10363 chr12 109605730 109605730 C T rs4766516 ACACB Synonymous SNV A272A 0.187 0.177 0.197 81 220 68 0.208 58 19 6 5 13 12.06 10364 chr2 170789504 170789504 C T rs73015765 UBR3 Synonymous SNV D883D 0.069 0.073 0.092 18 81 28 0.046 27 6 1 1 1 13.26 10365 chr12 11214212 11214212 A T rs2708380 TAS2R46 Nonsynonymous SNV L228M 0.372 0.409 0.361 148 437 157 0.379 106 67 32 15 24 0.006 10366 chr12 56862886 56862886 T C rs2657881 SPRYD4 Nonsynonymous SNV M50T 0.999 0.997 0.993 387 1173 383 0.992 292 586 191 145 192 13.68 10367 chr2 171225841 171225841 A G rs4668246 MYO3B Nonsynonymous SNV K309E 0.342 0.307 0.327 130 401 118 0.333 96 72 19 18 24 10.61 10368 chr12 11214360 11214360 C A rs73260771 TAS2R46 Synonymous SNV T178T 0.116 0.096 0 39 136 37 0.1 0 0 0 0 0 13.16 10369 chr11 93822102 93822102 C T rs116956001 HEPHL1 Synonymous SNV F754F 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 19.02 10370 chr12 56956213 56956213 T C rs3759091 RBMS2 Synonymous SNV L27L 0.815 0.797 0.806 322 957 306 0.826 237 392 119 96 134 3.881 10371 chr12 57003542 57003542 G C rs201453601 BAZ2A Synonymous SNV P690P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.813 10372 chr2 171240249 171240249 C T rs11675394 MYO3B Synonymous SNV R405R 0.344 0.245 0.32 133 404 94 0.341 94 66 7 12 25 14.78 10373 chr12 109623516 109623516 G A rs2300455 ACACB Nonsynonymous SNV A651T 0.181 0.174 0.204 80 213 67 0.205 60 19 6 5 13 24.8 10374 chr2 131673259 131673259 A G rs77678686 ARHGEF4 Synonymous SNV E580E 0.071 0.078 0.054 15 83 30 0.038 16 2 0 0 0 4.05 10375 chr2 171260787 171260787 G A rs6736609 MYO3B Nonsynonymous SNV V770I 0.906 0.88 0.888 338 1064 338 0.867 261 481 147 116 148 0.045 10376 chr12 57080665 57080666 AT - rs10579382 PTGES3 Star tloss M1? 0.629 0.609 0.636 280 738 234 0.718 187 224 79 63 103 10377 chr12 108986112 108986112 G C rs10861953 TMEM119 Synonymous SNV L16L 0.171 0.161 0.194 68 201 62 0.174 57 22 9 7 3 0.165 10378 chr12 57106660 57106660 A T rs4788 NACA Synonymous SNV I181I 0.717 0.674 0.748 306 842 259 0.785 220 304 88 82 124 7.224 10379 chr12 57108203 57108203 A G rs4902 NACA Synonymous SNV I59I 0.578 0.586 0.626 265 679 225 0.679 184 199 73 63 93 9.192 10380 chr2 171260797 171260797 A G rs33962844 MYO3B Nonsynonymous SNV E773G 0.366 0.258 0.323 133 430 99 0.341 95 75 10 17 23 13.98 10381 chr2 131673577 131673577 T C rs34513288 ARHGEF4 Synonymous SNV G686G 0.119 0.143 0.126 48 140 55 0.123 37 10 3 5 3 2.273 10382 chr11 94192612 94192612 G A rs375261439 MRE11 Nonsynonymous SNV R488C 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 10383 chr12 57109792 57109792 A G rs2958149 NACA Nonsynonymous SNV L1841P 0.716 0.672 0.752 307 840 258 0.787 221 302 88 82 125 15.06 10384 chr12 109281310 109281310 G A rs7980427 DAO Synonymous SNV S93S 0.107 0.112 0.105 54 126 43 0.138 31 7 3 1 3 8.622 10385 chr11 8414089 8414089 - A rs200962114 STK33 Frameshift insertion G318Wfs*30 0.037 0.052 0.051 19 43 20 0.049 15 0 1 0 1 10386 chr12 109654440 109654440 G A rs765956673 ACACB Nonsynonymous SNV R1123H 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 34 10387 chr2 171260820 171260820 T C rs6751520 MYO3B Synonymous SNV L781L 0.906 0.88 0.888 338 1064 338 0.867 261 481 147 116 148 3.688 10388 chr11 8414090 8414090 - AACCA rs201927394 STK33 Frameshift insertion A319Sfs*34 0.037 0.052 0.051 19 43 20 0.049 15 0 1 0 1 10389 chr12 57109931 57109931 A T rs2926747 NACA Nonsynonymous SNV S1795T 0.586 0.594 0.629 264 688 228 0.677 185 202 72 63 92 0.01 10390 chr12 109671613 109671613 C T rs745686809 ACACB Synonymous SNV S1400S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.15 10391 chr2 171355198 171355198 A G rs6761297 MYO3B Synonymous SNV V1037V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.359 10392 chr12 57112637 57112637 G A rs11171951 NACA Synonymous SNV L893L 0.572 0.589 0.626 259 672 226 0.664 184 192 72 63 87 3.421 10393 chr2 171356274 171356274 G A rs10185178 MYO3B Nonsynonymous SNV R1082K 0.999 1 0.983 389 1173 384 0.997 289 586 192 142 194 8.222 10394 chr12 57114100 57114100 A G rs2926743 NACA Nonsynonymous SNV F405S 0.716 0.674 0.752 306 841 259 0.785 221 303 88 82 124 0.005 10395 chr12 10658942 10658942 C T rs7135490 EIF2S3B Synonymous SNV N147N 0.126 0.135 0.153 59 148 52 0.151 45 7 3 3 2 6.867 10396 chr2 171572940 171572940 G A rs3749036 SP5 Nonsynonymous SNV A75T 0.364 0.344 0.344 144 427 132 0.369 101 76 18 17 28 11.03 10397 chr12 57114307 57114307 A T rs2958127 NACA Nonsynonymous SNV V336E 0.582 0.591 0.626 265 683 227 0.679 184 199 73 63 93 12.47 10398 chr12 10962022 10962022 C T rs113883583 TAS2R9 Nonsynonymous SNV G218E 0.021 0.013 0.014 4 25 5 0.01 4 0 0 0 0 Benign 22.8 10399 chr12 106633569 106633569 C T rs3088113 CKAP4 Nonsynonymous SNV A348T 0.113 0.122 0.112 45 133 47 0.115 33 9 1 1 4 12.88 10400 chr2 171627676 171627676 T G rs1861462 ERICH2 Nonsynonymous SNV L162R 0.991 0.992 0.983 384 1164 381 0.985 289 577 189 143 189 9.413 10401 chr12 57585144 57585144 C T rs1800139 LRP1 Synonymous SNV A2426A 0.684 0.698 0.69 288 803 268 0.738 203 274 91 69 104 19.5 10402 chr12 109723233 109723233 G A rs17177336 FOXN4 Synonymous SNV S259S 0.14 0.154 0.126 51 164 59 0.131 37 9 4 4 3 12.25 10403 chr11 9861208 9861208 G C rs117957652 SBF2 Nonsynonymous SNV L1098V 0.027 0.023 0.041 11 32 9 0.028 12 0 0 0 0 Benign/Likely benign 8.674 10404 chr2 171649402 171649402 C T rs3764916 ERICH2 Synonymous SNV Y82Y 0.296 0.286 0.316 121 347 110 0.31 93 71 16 13 25 6.979 10405 chr12 57589784 57589784 A C rs7397167 LRP1 Nonsynonymous SNV Q2900P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.31 10406 chr2 171678625 171678625 T C rs769404 GAD1 Synonymous SNV H37H 0.379 0.424 0.412 153 445 163 0.392 121 91 37 22 28 Benign 5.219 10407 chr12 11338957 11338957 A G rs5020531 TAS2R42 Nonsynonymous SNV F196S 0.608 0.617 0.585 261 714 237 0.669 172 210 72 54 84 0.003 10408 chr12 57590869 57590869 T C rs7308698 LRP1 Synonymous SNV T2999T 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 7.242 10409 chr11 94592756 94592756 C T rs772911456 AMOTL1 Nonsynonymous SNV R621W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 10410 chr2 171822466 171822466 C T rs4668356 GORASP2 Synonymous SNV S327S 0.914 0.896 0.891 359 1073 344 0.921 262 491 156 120 165 13.85 10411 chr12 57593101 57593101 G A rs1140648 LRP1 Synonymous SNV T3261T 0.683 0.693 0.69 288 802 266 0.738 203 274 90 70 104 10.05 10412 chr12 106729425 106729425 G A rs17218950 TCP11L2 Nonsynonymous SNV D261N 0.027 0.031 0.054 6 32 12 0.015 16 2 0 0 0 19.1 10413 chr12 57619209 57619209 C G rs7979061 NXPH4 Synonymous SNV P202P 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 6.185 10414 chr12 11338983 11338983 T C rs1650019 TAS2R42 Synonymous SNV L187L 0.819 0.859 0.769 336 962 330 0.862 226 397 143 89 143 0.092 10415 chr2 171910313 171910313 C T rs11553951 TLK1 Synonymous SNV Q134Q 0.243 0.24 0.16 112 285 92 0.287 47 36 12 18 12 13.82 10416 chr12 57859431 57859431 G A rs2228225 GLI1 Synonymous SNV E64E 0.663 0.63 0.639 248 778 242 0.636 188 254 72 61 77 7.058 10417 chr12 11339020 11339020 T A rs35969491 TAS2R42 Nonsynonymous SNV Y175F 0.585 0.604 0.571 255 687 232 0.654 168 211 72 54 84 3.255 10418 chr2 172291616 172291616 C T rs6751956 DCAF17 Synonymous SNV V50V 0.223 0.224 0.235 80 262 86 0.205 69 22 6 7 6 Benign 6.787 10419 chr12 57865321 57865321 G A rs2228224 GLI1 Nonsynonymous SNV G805D 0.664 0.63 0.643 250 779 242 0.641 189 255 72 61 77 2.485 10420 chr2 172330393 172330393 A G rs3731983 DCAF17 Synonymous SNV Q333Q 0.211 0.216 0.201 76 248 83 0.195 59 18 5 6 5 Benign 0.048 10421 chr12 57865821 57865821 G C rs2228226 GLI1 Nonsynonymous SNV E972Q 0.721 0.698 0.718 268 847 268 0.687 211 299 88 75 87 6.19 10422 chr2 172725301 172725301 A G rs1878583 SLC25A12 Synonymous SNV Y33Y 0.893 0.891 0.918 356 1048 342 0.913 270 465 152 124 163 Benign 0.074 10423 chr11 94203805 94203805 A G MRE11 Synonymous SNV H283H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.157 10424 chr12 57869582 57869582 T C rs2277315 ARHGAP9 Nonsynonymous SNV T119A 0.721 0.698 0.714 268 846 268 0.687 210 298 88 75 87 6.844 10425 chr2 173339808 173339808 G A rs11895564 ITGA6 Nonsynonymous SNV A380T 0.319 0.32 0.384 120 375 123 0.308 113 61 23 22 11 Benign 22.3 10426 chr12 57870155 57870155 A C rs11544238 ARHGAP9 Nonsynonymous SNV S40A 0.665 0.635 0.653 251 781 244 0.644 192 255 75 62 78 Uncertain significance 3.233 10427 chr2 173352103 173352103 C T rs2293649 ITGA6 Synonymous SNV D694D 0.239 0.234 0.31 97 281 90 0.249 91 34 15 14 9 Benign 14.13 10428 chr12 57994743 57994743 T G rs775235 PIP4K2C Synonymous SNV L273L 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 3.839 10429 chr2 174074375 174074375 T C rs2289397 MAP3K20-AS1 0.377 0.336 0.245 143 443 129 0.367 72 82 20 16 28 1.275 10430 chr12 100452027 100452027 T C rs60592197 UHRF1BP1L Nonsynonymous SNV I1010V 0.12 0.104 0.088 41 141 40 0.105 26 6 0 1 3 0.001 10431 chr2 174074407 174074407 A G rs2289396 MAP3K20-AS1 0.658 0.591 0.575 241 773 227 0.618 169 259 69 51 78 8.016 10432 chr12 57995089 57995089 T C rs812873 PIP4K2C Synonymous SNV A333A 0.997 0.997 0.983 388 1170 383 0.995 289 583 191 142 193 3.025 10433 chr2 174128513 174128513 C T rs3769148 MAP3K20 Nonsynonymous SNV S531L 0.402 0.37 0.422 160 472 142 0.41 124 100 28 22 35 11.4 10434 chr12 1137217 1137217 A G rs35037408 ERC1 Nonsynonymous SNV S50G 0.043 0.063 0.068 24 51 24 0.062 20 1 1 0 0 1.87 10435 chr12 58015494 58015494 G A rs923828 SLC26A10 Nonsynonymous SNV A193T 0.529 0.521 0.5 191 621 200 0.49 147 163 51 36 42 23.7 10436 chr2 136537911 136537911 G A rs62170084 UBXN4 Synonymous SNV S448S 0.02 0.044 0.01 6 24 17 0.015 3 0 1 0 0 14.19 10437 chr2 174946760 174946760 T C rs11558990 OLA1 Nonsynonymous SNV Y96C 0.278 0.263 0.286 86 326 101 0.221 84 43 11 10 7 16.52 10438 chr12 108035903 108035903 T C rs9919712 BTBD11 Synonymous SNV D496D 0.219 0.245 0.252 87 257 94 0.223 74 25 15 11 10 3.927 10439 chr12 58019472 58019472 T G rs774895 SLC26A10 Nonsynonymous SNV L546V 0.996 0.997 0.99 388 1169 383 0.995 291 582 191 144 193 5.19 10440 chr2 136546110 136546110 A G rs2278544 LCT Synonymous SNV A1856A 0.439 0.448 0.344 178 515 172 0.456 101 113 36 19 41 Benign 0.599 10441 chr11 94326655 94326655 T - rs111738403 LOC105369438 0.04 0.039 0.071 14 47 15 0.036 21 0 0 0 1 10442 chr12 100657464 100657464 T C rs7307415 DEPDC4 Nonsynonymous SNV H122R 0.123 0.107 0.088 43 144 41 0.11 26 6 0 1 3 0.001 10443 chr12 108051406 108051406 G A rs12303478 BTBD11 Nonsynonymous SNV G613S 0.106 0.154 0.146 44 124 59 0.113 43 3 9 4 2 23.4 10444 chr11 94326710 94326710 G A rs7119735 PIWIL4 Synonymous SNV L351L 0.044 0.049 0.02 19 52 19 0.049 6 2 0 0 1 1.161 10445 chr2 136555659 136555659 T C rs2322659 LCT Nonsynonymous SNV N1639S 0.372 0.378 0.299 159 437 145 0.408 88 80 26 13 35 Benign 0.063 10446 chr2 175306885 175306885 T C rs76781804 GPR155 Synonymous SNV G684G 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Benign 10.87 10447 chr12 58112189 58112189 A G rs799265 OS9 Synonymous SNV E433E 0.503 0.513 0.517 179 591 197 0.459 152 156 54 37 36 5.874 10448 chr12 114282496 114282496 C T rs2075387 RBM19 Nonsynonymous SNV R921Q 0.279 0.289 0.262 103 328 111 0.264 77 46 15 12 17 25.8 10449 chr12 110032921 110032921 G A rs374686559 MVK Nonsynonymous SNV R273H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.484 10450 chr12 58126234 58126234 C A rs17852479 AGAP2 Synonymous SNV L582L 0.507 0.516 0.5 175 595 198 0.449 147 158 52 38 34 15.41 10451 chr2 175436576 175436576 A C rs112447307 WIPF1 Synonymous SNV P319P 0.059 0.052 0.112 16 69 20 0.041 33 4 0 2 0 0.032 10452 chr12 108102757 108102757 A G rs74918182 PWP1 Nonsynonymous SNV I316V 0.043 0.042 0.027 8 50 16 0.021 8 0 0 0 0 0.002 10453 chr11 86519328 86519328 G A rs377192724 PRSS23 Nonsynonymous SNV E215K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.46 10454 chr11 94532635 94532635 G A rs141367424 AMOTL1 Synonymous SNV A43A 0.003 0.01 0 0 4 4 0 0 0 0 0 0 12.29 10455 chr12 58149446 58149446 C T rs1689582 MARCHF9 Synonymous SNV G45G 0.908 0.88 0.735 366 1066 338 0.938 216 533 169 107 182 11.47 10456 chr2 175436940 175436940 G A rs4972450 WIPF1 Nonsynonymous SNV P198L 0.939 0.938 0.935 371 1102 360 0.951 275 520 170 131 176 Benign 10.37 10457 chr12 114377885 114377885 G C rs2290790 RBM19 Synonymous SNV T606T 0.359 0.344 0.327 130 422 132 0.333 96 70 20 15 26 1.504 10458 chr12 110226379 110226379 G A rs3742037 TRPV4 Synonymous SNV I571I 0.116 0.141 0.088 46 136 54 0.118 26 6 2 1 3 Benign 11.47 10459 chr12 58174306 58174306 T C rs923829 EEF1AKMT3 Synonymous SNV H186H 0.258 0.25 0.241 123 303 96 0.315 71 39 17 6 19 0.036 10460 chr2 136575199 136575199 G T rs6719488 LCT Synonymous SNV G473G 0.301 0.294 0.235 121 353 113 0.31 69 52 15 9 17 Benign 0.371 10461 chr12 110238481 110238481 G A rs1344554 TRPV4 Synonymous SNV H265H 0.072 0.068 0.061 37 84 26 0.095 18 2 0 2 0 Benign 9.786 10462 chr12 58176614 58176614 T C rs10747783 TSFM Synonymous SNV F10F 0.256 0.25 0.231 122 301 96 0.313 68 38 17 6 19 Benign 0.37 10463 chr2 176866948 176866948 G A rs114093789 LNPK Nonsynonymous SNV A24V 0.049 0.052 0.034 15 57 20 0.038 10 0 0 0 0 16.03 10464 chr11 94759282 94759282 C T rs61740268 KDM4E Synonymous SNV A187A 0.035 0.049 0.014 7 41 19 0.018 4 0 1 0 0 Likely benign 10.34 10465 chr12 101018161 101018161 C T rs1045603 GAS2L3 Synonymous SNV S526S 0.118 0.089 0.129 55 139 34 0.141 38 11 2 3 4 8.234 10466 chr12 58204283 58204283 T C rs2172521 AVIL Nonsynonymous SNV K204E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.22 10467 chr11 94759291 94759291 A G rs2848447 KDM4E Synonymous SNV T190T 0.035 0.052 0.027 7 41 20 0.018 8 0 1 0 0 Likely benign 0.038 10468 chr2 176957822 176957822 G A rs2518053 HOXD13 Synonymous SNV A68A 0.302 0.279 0.282 122 355 107 0.313 83 59 13 11 17 Benign 10.56 10469 chr12 58335626 58335626 A T rs3751325 ATP23 Nonsynonymous SNV S48C 0.228 0.203 0.231 107 268 78 0.274 68 29 5 10 13 0.054 10470 chr11 94759494 94759494 T C rs16921260 KDM4E Nonsynonymous SNV F258S 0.035 0.049 0.024 7 41 19 0.018 7 0 1 0 0 23.9 10471 chr2 176964904 176964904 G A rs847151 HOXD12 Synonymous SNV L125L 0.265 0.219 0.259 109 311 84 0.279 76 43 8 9 12 4.099 10472 chr2 136594158 136594158 G A rs2236783 LCT Synonymous SNV T194T 0.3 0.297 0.235 121 352 114 0.31 69 51 15 9 17 Benign 0.949 10473 chr2 176995262 176995262 C T rs7580746 HOXD8 Synonymous SNV N56N 0.066 0.057 0.048 29 78 22 0.074 14 3 3 0 1 13.6 10474 chr12 110352361 110352361 G A rs16940680 TCHP Nonsynonymous SNV E417K 0.03 0.044 0.034 9 35 17 0.023 10 1 0 1 0 7.774 10475 chr12 58350631 58350631 C T rs10122 ATP23 Synonymous SNV H115H 0.315 0.297 0.34 132 370 114 0.338 100 55 13 20 17 12.68 10476 chr2 136743017 136743017 - GCTGGC rs551090724 DARS1 S7_R8insAS 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10477 chr12 110618235 110618235 A G rs16940805 IFT81 Synonymous SNV R89R 0.084 0.076 0.061 39 99 29 0.1 18 3 2 0 2 8.658 10478 chr12 5841733 5841733 A C rs1860961 ANO2 Nonsynonymous SNV S500A 0.089 0.065 0.078 29 104 25 0.074 23 6 1 2 0 6.146 10479 chr2 177016728 177016728 T C rs34727427 HOXD4 Nonsynonymous SNV S123P 0.294 0.315 0.306 111 345 121 0.285 90 56 21 13 16 10.68 10480 chr12 117584066 117584066 G A rs3741467 FBXO21 Synonymous SNV N564N 0.07 0.068 0.082 30 82 26 0.077 24 3 0 2 1 11.35 10481 chr2 137814477 137814477 C G rs17727482 THSD7B Synonymous SNV P209P 0.407 0.44 0.435 161 478 169 0.413 128 96 37 31 34 0.495 10482 chr12 110780107 110780107 G A rs56243033 ATP2A2 Synonymous SNV A724A 0.078 0.07 0.061 33 91 27 0.085 18 3 1 0 2 Benign 7.721 10483 chr12 110352404 110352404 C T rs145032664 TCHP Nonsynonymous SNV S431L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 13.2 10484 chr12 117669914 117669914 G A rs3741475 NOS1 Synonymous SNV D750D 0.345 0.289 0.173 120 405 111 0.308 51 78 7 8 16 7.258 10485 chr2 138375972 138375972 A T rs17692792 THSD7B Synonymous SNV T1192T 0.183 0.177 0.184 78 215 68 0.2 54 22 4 6 7 1.296 10486 chr2 177034121 177034121 G T rs34729309 HOXD3 Synonymous SNV P93P 0.302 0.315 0.31 119 355 121 0.305 91 58 24 14 16 10.84 10487 chr12 5853390 5853390 G A rs199726100 ANO2 Synonymous SNV T429T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.902 10488 chr12 60173356 60173356 A T rs3763980 SLC16A7 Nonsynonymous SNV T445S 0.274 0.273 0.269 89 322 105 0.228 79 48 7 10 12 0.001 10489 chr12 117685270 117685270 G A rs1047735 NOS1 Synonymous SNV H566H 0.376 0.328 0.303 147 441 126 0.377 89 90 12 12 23 8.448 10490 chr2 177036754 177036754 T C rs1051929 HOXD3 Synonymous SNV L351L 0.704 0.714 0.673 270 826 274 0.692 198 287 97 68 90 1.872 10491 chr12 110974890 110974890 T C rs10849900 PPTC7 Synonymous SNV P289P 0.321 0.352 0.293 151 377 135 0.387 86 59 28 10 23 1.066 10492 chr11 99690450 99690450 T C rs12222337 CNTN5 Synonymous SNV Y77Y 0.027 0.026 0.119 13 32 10 0.033 35 0 0 0 0 0.004 10493 chr12 117693817 117693817 G A rs11068428 NOS1 Nonsynonymous SNV P853S 0.376 0.331 0.303 148 442 127 0.379 89 90 12 12 23 23 10494 chr12 110618313 110618313 C T rs763039671 IFT81 Synonymous SNV F115F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 10495 chr2 177054769 177054769 G A rs6710142 HOXD1 Nonsynonymous SNV A296T 0.242 0.26 0.252 92 284 100 0.236 74 38 13 12 11 7.999 10496 chr12 6030301 6030301 G A rs3741901 ANO2 Nonsynonymous SNV P147S 0.146 0.128 0.139 57 171 49 0.146 41 7 4 2 4 23.1 10497 chr12 108985785 108985785 C T rs73191224 TMEM119 Synonymous SNV S125S 0.078 0.057 0.075 21 92 22 0.054 22 3 0 0 1 19.58 10498 chr12 6091000 6091000 A G rs216867 VWF Synonymous SNV T2413T 0.871 0.88 0.874 338 1023 338 0.867 257 447 148 113 145 Benign/Likely benign 5.668 10499 chr2 178494173 178494173 - GGA rs3830637 PDE11A S477_P478insS 0.671 0.669 0.602 262 788 257 0.672 177 273 86 58 82 10500 chr2 141259283 141259283 G A rs35296183 LRP1B Synonymous SNV D2941D 0.146 0.182 0.153 66 171 70 0.169 45 11 5 3 7 4.557 10501 chr12 117718549 117718549 G C NOS1 Nonsynonymous SNV A166G 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 20.3 10502 chr12 6105387 6105387 G A rs216902 VWF Synonymous SNV C1948C 0.339 0.372 0.361 139 398 143 0.356 106 57 27 19 26 Benign/Likely benign 8.621 10503 chr2 178528641 178528641 G C rs61306957 PDE11A Nonsynonymous SNV R423G 0.024 0.021 0.024 7 28 8 0.018 7 1 0 0 0 21.6 10504 chr2 141259376 141259376 G A rs35164907 LRP1B Synonymous SNV C2910C 0.187 0.24 0.177 82 220 92 0.21 52 20 9 5 11 10.41 10505 chr12 101679367 101679367 T C rs199984180 UTP20 Nonsynonymous SNV F49S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.84 10506 chr12 6143984 6143984 T C rs216321 VWF Nonsynonymous SNV Q852R 0.949 0.932 0.946 365 1114 358 0.936 278 530 166 131 171 6.344 10507 chr11 95555088 95555088 G A rs11742 CEP57 Synonymous SNV P251P 0.04 0.039 0.037 15 47 15 0.038 11 1 0 0 1 Benign 6.269 10508 chr2 178936373 178936373 T G rs1435573 PDE11A Synonymous SNV T264T 0.885 0.914 0.884 351 1039 351 0.9 260 459 160 115 157 0.749 10509 chr12 6153514 6153514 A G rs1063857 VWF Synonymous SNV Y795Y 0.303 0.323 0.327 112 356 124 0.287 96 53 24 14 14 Benign/Likely benign 7.495 10510 chr2 178936614 178936614 C T rs6433711 PDE11A Nonsynonymous SNV R184Q 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 18.08 10511 chr12 109017898 109017898 C T rs2228315 SELPLG Nonsynonymous SNV M78I 0.092 0.078 0.082 29 108 30 0.074 24 4 1 1 1 0.028 10512 chr12 6153534 6153534 T C rs1063856 VWF Nonsynonymous SNV T789A 0.302 0.32 0.327 112 354 123 0.287 96 53 24 14 14 Benign/Likely benign 7.75 10513 chr12 118473054 118473054 T C rs9788041 WSB2 Synonymous SNV P93P 0.279 0.268 0.235 128 328 103 0.328 69 48 16 9 17 5.78 10514 chr12 118506186 118506186 A T rs67405503 VSIG10 Synonymous SNV L521L 0.328 0.339 0.354 140 385 130 0.359 104 63 16 19 28 2.04 10515 chr2 179203797 179203797 G A rs1434087 OSBPL6 Synonymous SNV S269S 0.917 0.898 0.901 333 1076 345 0.854 265 492 155 119 144 15.45 10516 chr12 6167118 6167118 C T rs35365059 VWF Synonymous SNV A542A 0.049 0.065 0.048 23 58 25 0.059 14 1 2 1 2 Benign/Likely benign 16.9 10517 chr2 179330520 179330520 C T FKBP7 Nonsynonymous SNV V215I 0 0 0 0 0 0 0 0 0 0 0 0 14.01 10518 chr12 6167196 6167196 A G rs1800379 VWF Synonymous SNV Y516Y 0.307 0.339 0.323 117 361 130 0.3 95 57 21 16 15 Benign/Likely benign 0.032 10519 chr2 179400130 179400130 G A rs56273463 TTN Nonsynonymous SNV R24673C 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 10520 chr12 6173433 6173433 C T rs1800377 VWF Nonsynonymous SNV V471I 0.078 0.102 0.119 29 92 39 0.074 35 3 1 1 1 Benign/Likely benign 9.971 10521 chr12 119588962 119588962 G A rs2723880 SRRM4 Nonsynonymous SNV R406Q 0.367 0.375 0.34 157 431 144 0.403 100 70 25 18 33 23.2 10522 chr12 6174414 6174414 T G rs1800376 VWF Synonymous SNV S394S 0.129 0.146 0.173 39 151 56 0.1 51 11 3 5 1 Benign/Likely benign 6.541 10523 chr2 179411207 179411207 A T rs72648256 TTN Nonsynonymous SNV D22552E 0.008 0.01 0.02 2 9 4 0.005 6 0 0 0 0 Conflicting interpretations of pathogenicity 18.84 10524 chr12 6174423 6174423 T A rs1800375 VWF Synonymous SNV T391T 0.124 0.143 0.167 39 146 55 0.1 49 10 2 4 1 Benign/Likely benign 4.724 10525 chr12 62785663 62785663 T C rs11174457 USP15 Synonymous SNV A518A 0.083 0.073 0.112 44 98 28 0.113 33 6 2 0 1 1.118 10526 chr2 179415947 179415947 T C rs374094732 TTN Synonymous SNV E21372E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.527 10527 chr12 119866533 119866533 A G rs1064319 CCDC60 Nonsynonymous SNV I46V 0.316 0.398 0.276 140 371 153 0.359 81 48 28 10 31 1.972 10528 chr12 62926398 62926398 G A rs7957417 MON2 Synonymous SNV S527S 0.367 0.406 0.418 165 431 156 0.423 123 68 34 26 38 10.65 10529 chr2 179432185 179432185 A G rs12463674 TTN Nonsynonymous SNV I17160T 0.214 0.237 0.221 82 251 91 0.21 65 29 10 9 9 Benign/Likely benign 22.9 10530 chr12 62946748 62946748 G A rs148114740 MON2 Nonsynonymous SNV E1002K 0.037 0.042 0.048 21 43 16 0.054 14 1 0 0 0 18.14 10531 chr2 150426573 150426573 A C MMADHC Nonsynonymous SNV L269R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.9 10532 chr12 119961587 119961587 G A rs78218795 CCDC60 Nonsynonymous SNV G398D 0.012 0.013 0.014 5 14 5 0.013 4 0 0 0 0 24.4 10533 chr12 11150054 11150054 C T rs79420812 TAS2R20 Nonsynonymous SNV V141I 0.237 0.253 0.214 114 278 97 0.292 63 29 13 6 15 0.001 10534 chr12 62979216 62979216 G A rs11174557 MON2 Synonymous SNV R1608R 0.236 0.182 0.177 100 277 70 0.256 52 28 7 4 14 12.94 10535 chr2 179440029 179440029 G A rs12464787 TTN Synonymous SNV S14545S 0.21 0.221 0.218 81 246 85 0.208 64 28 9 9 9 Benign 12.29 10536 chr12 63544209 63544209 A G rs1042615 AVPR1A Synonymous SNV F136F 0.624 0.583 0.633 210 733 224 0.538 186 220 66 55 60 7.675 10537 chr2 152132130 152132130 A G rs289834 NMI Synonymous SNV L168L 0.179 0.224 0.17 65 210 86 0.167 50 20 12 4 3 0.147 10538 chr2 179444768 179444768 C G rs4145333 TTN Nonsynonymous SNV A13351P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 2.486 10539 chr12 6421495 6421495 G A rs740842 PLEKHG6 Nonsynonymous SNV A35T 0.537 0.552 0.592 227 631 212 0.582 174 175 54 53 62 0.547 10540 chr2 152138522 152138522 T C rs3771886 NMI Synonymous SNV Q39Q 0.477 0.5 0.497 194 560 192 0.497 146 185 59 41 59 0.019 10541 chr12 6427052 6427052 C T rs1468603 PLEKHG6 Synonymous SNV H317H 0.569 0.573 0.595 227 668 220 0.582 175 199 58 52 63 12.21 10542 chr2 179462494 179462494 A G rs35833641 TTN Synonymous SNV H10040H 0.21 0.232 0.218 82 247 89 0.21 64 27 10 9 9 Benign 9.333 10543 chr12 10103874 10103874 G A rs555210485 CLEC12A-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.037 10544 chr12 111779792 111779792 C T rs16941414 CUX2 Synonymous SNV I1136I 0.055 0.057 0.031 12 65 22 0.031 9 2 0 0 1 18.79 10545 chr12 64472803 64472803 A T rs789710 SRGAP1 Synonymous SNV S410S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 1.833 10546 chr2 179545859 179545859 C T rs36051007 TTN Nonsynonymous SNV R9852H 0.192 0.203 0.218 79 225 78 0.203 64 27 8 8 8 Benign/Likely benign 18.18 10547 chr12 6450945 6450945 T C rs767455 TNFRSF1A Synonymous SNV P12P 0.442 0.464 0.432 168 519 178 0.431 127 116 45 31 38 Benign 8.208 10548 chr12 120189879 120189879 A G rs904655 CIT Synonymous SNV A918A 0.583 0.56 0.486 200 685 215 0.513 143 201 61 48 50 6.888 10549 chr12 111785515 111785515 G A rs61745424 CUX2 Nonsynonymous SNV E1221K 0.055 0.057 0.024 12 65 22 0.031 7 2 0 0 1 2.294 10550 chr12 64519806 64519806 T C rs789722 SRGAP1 Synonymous SNV S735S 0.557 0.56 0.575 216 654 215 0.554 169 184 58 50 61 0.076 10551 chr2 179554305 179554305 C T rs2244492 TTN Nonsynonymous SNV G9378R 0.283 0.263 0.255 108 332 101 0.277 75 42 14 11 17 Benign/Likely benign 23.7 10552 chr12 64587633 64587633 C A rs699638 C12orf66 Nonsynonymous SNV A443S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.07 10553 chr12 111785586 111785586 T C rs3803167 CUX2 Synonymous SNV D1244D 0.232 0.193 0.19 101 272 74 0.259 56 32 4 4 15 0.002 10554 chr12 111731276 111731276 G A rs144303972 CUX2 Nonsynonymous SNV G93R 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 19.86 10555 chr2 179558366 179558366 T C rs2042995 TTN Nonsynonymous SNV I9278V 0.275 0.253 0.238 96 323 97 0.246 70 53 10 11 11 Benign/Likely benign 13.49 10556 chr12 64609562 64609562 C T rs2335390 C12orf66 Nonsynonymous SNV M139I 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.028 10557 chr12 111747963 111747963 C T rs3742007 CUX2 Synonymous SNV P397P 0.087 0.104 0.119 52 102 40 0.133 35 5 3 2 2 12.57 10558 chr2 179585266 179585266 C T rs2562831 TTN Synonymous SNV Q6497Q 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 6.227 10559 chr12 111884608 111884608 T C rs3184504 SH2B3 Nonsynonymous SNV W60R 0.487 0.474 0.412 200 572 182 0.513 121 136 41 27 53 0.012 10560 chr12 64669090 64669090 C A rs1002392 C12orf56 Synonymous SNV L339L 0.349 0.323 0.718 150 410 124 0.385 211 196 61 87 71 11.24 10561 chr12 111760251 111760251 G C rs3742006 CUX2 Synonymous SNV V869V 0.107 0.102 0.126 55 126 39 0.141 37 6 4 2 5 9.052 10562 chr12 64712511 64712511 A G rs7955105 C12orf56 Synonymous SNV N246N 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 3.532 10563 chr2 179599091 179599091 C T rs772907723 TTN Nonsynonymous SNV G3910S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 10564 chr12 120661977 120661977 T C rs4767884 PXN Nonsynonymous SNV S73G 0.81 0.823 0.799 318 951 316 0.815 235 375 129 98 128 0.005 10565 chr12 64712546 64712546 - GTT rs113411861 C12orf56 N234_S235insN 0.345 0.357 0.333 138 405 137 0.354 98 89 29 18 18 10566 chr2 179600303 179600303 G C rs72648925 TTN Nonsynonymous SNV T3713S 0.007 0.01 0.024 2 8 4 0.005 7 0 0 0 0 Conflicting interpretations of pathogenicity 12.21 10567 chr12 6495275 6495275 C A rs2364480 LTBR Synonymous SNV A153A 0.709 0.721 0.65 262 832 277 0.672 191 299 98 59 89 21.7 10568 chr12 104139034 104139034 C A rs7306642 STAB2 Nonsynonymous SNV P2039T 0.074 0.057 0.054 29 87 22 0.074 16 3 0 1 1 11.43 10569 chr12 65004520 65004520 A G rs77813527 RASSF3 Synonymous SNV Q36Q 0.183 0.167 0.19 74 215 64 0.19 56 21 9 3 1 6.785 10570 chr12 120884328 120884328 C T rs2235217 GATC Synonymous SNV G15G 0.248 0.292 0.241 92 291 112 0.236 71 27 20 12 11 15.5 10571 chr12 112186274 112186274 C T rs34245489 ACAD10 Nonsynonymous SNV A880V 0.022 0.016 0.01 8 26 6 0.021 3 0 0 0 0 25.1 10572 chr12 65514266 65514266 T C rs7301320 WIF1 Synonymous SNV A73A 0.822 0.794 0.827 319 965 305 0.818 243 390 120 98 131 1.477 10573 chr2 179600563 179600563 G A rs2742348 TTN Synonymous SNV S3626S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 12.12 10574 chr12 111800827 111800835 GCCACCCCC - rs139032867 PHETA1 G133_G135del 0.171 0.133 0.156 89 201 51 0.228 46 16 2 2 9 10575 chr12 6554628 6554628 G A rs25680 CD27 Nonsynonymous SNV A59T 0.214 0.221 0.201 86 251 85 0.221 59 32 7 3 10 22.7 10576 chr2 179614952 179614952 A G rs10803917 TTN Synonymous SNV L4059L 0.994 0.997 0.997 386 1167 383 0.99 293 580 191 146 191 Benign 2.51 10577 chr12 112616836 112616836 G A rs201775230 HECTD4 Synonymous SNV Y3764Y 0.008 0.008 0.003 6 9 3 0.015 1 0 0 0 0 3.85 10578 chr2 179615887 179615887 T C rs922984 TTN Nonsynonymous SNV D3747G 0.939 0.945 0.946 367 1102 363 0.941 278 516 171 133 173 Benign 8.526 10579 chr12 65563596 65563596 G T LEMD3 Nonsynonymous SNV A74S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 10580 chr12 112667675 112667675 T G rs1005902 HECTD4 Synonymous SNV R2126R 0.284 0.276 0.255 120 334 106 0.308 75 46 12 10 16 11.16 10581 chr12 6560473 6560473 A G rs2532502 CD27 Nonsynonymous SNV H233R 0.988 0.987 0.959 379 1160 379 0.972 282 574 187 136 184 Benign 13 10582 chr12 120966921 120966921 A G rs3742052 COQ5 Synonymous SNV A8A 0.254 0.297 0.248 92 298 114 0.236 73 32 20 12 11 0.107 10583 chr2 179615931 179615931 C G rs922985 TTN Nonsynonymous SNV L3732F 0.994 0.997 0.997 386 1167 383 0.99 293 580 191 146 191 Benign 4.287 10584 chr12 100796485 100796485 G A rs138984845 SLC17A8 Nonsynonymous SNV A339T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 25 10585 chr12 6619284 6619284 C G rs714774 NCAPD2 Nonsynonymous SNV Q83E 0.673 0.661 0.687 277 790 254 0.71 202 263 82 70 95 8.356 10586 chr2 179615994 179615994 T C rs922986 TTN Synonymous SNV T3711T 0.994 0.997 0.997 386 1167 383 0.99 293 580 191 146 191 Benign 0.002 10587 chr12 121432117 121432117 G C rs56348580 HNF1A Synonymous SNV G288G 0.337 0.396 0.306 147 396 152 0.377 90 62 27 15 29 Benign 1.5 10588 chr12 100796486 100796486 C A rs142232146 SLC17A8 Nonsynonymous SNV A339D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 33 10589 chr2 152476028 152476028 C G rs10172023 NEB Nonsynonymous SNV W3360C 0.272 0.286 0.248 127 319 110 0.326 73 42 17 6 21 Benign 26.8 10590 chr12 662448 662448 T C rs758790 B4GALNT3 Synonymous SNV L453L 0.756 0.745 0.738 277 887 286 0.71 217 336 106 82 96 0.025 10591 chr12 121437114 121437114 G A rs55834942 HNF1A Synonymous SNV T515T 0.233 0.273 0.221 96 273 105 0.246 65 30 17 8 11 Benign 15.41 10592 chr2 179620951 179620951 C T rs7585334 TTN Nonsynonymous SNV G3580D 0.94 0.945 0.966 368 1104 363 0.944 284 518 171 137 174 Benign 22.8 10593 chr12 6631169 6631169 C A rs917634 NCAPD2 Synonymous SNV I640I 0.458 0.427 0.517 193 538 164 0.495 152 126 38 47 47 13.42 10594 chr12 11214495 11214495 T C rs777303558 TAS2R46 Synonymous SNV L133L 0.053 0.039 0 12 62 15 0.031 0 0 0 0 0 0.044 10595 chr12 6634817 6634817 C T rs71579347 NCAPD2 Synonymous SNV T761T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 17.56 10596 chr2 179621477 179621477 C T rs6433728 TTN Nonsynonymous SNV A3405T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 22.8 10597 chr12 11214498 11214498 T C rs770484573 TAS2R46 Nonsynonymous SNV I132M 0.053 0.031 0 12 62 12 0.031 0 0 0 0 0 0.001 10598 chr12 6637845 6637845 T C rs2072374 NCAPD2 Synonymous SNV R1100R 0.664 0.659 0.687 275 779 253 0.705 202 256 81 70 92 9.721 10599 chr12 105504953 105504953 T C rs35294333 WASHC4 Nonsynonymous SNV Y38H 0.033 0.021 0.024 13 39 8 0.033 7 0 0 0 0 20.2 10600 chr12 6638116 6638116 C T rs740850 NCAPD2 Synonymous SNV N1161N 0.364 0.354 0.425 143 427 136 0.367 125 78 29 29 22 18.24 10601 chr12 101336201 101336201 G C rs34162417 ANO4 Nonsynonymous SNV G115A 0.073 0.076 0.061 35 86 29 0.09 18 2 1 0 1 25.9 10602 chr2 179623758 179623758 C T rs2291310 TTN Nonsynonymous SNV S3373N 0.94 0.945 0.966 368 1104 363 0.944 284 518 171 137 174 Benign 15.07 10603 chr12 11214500 11214500 T C rs745642459 TAS2R46 Nonsynonymous SNV I132V 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 0.004 10604 chr12 6639088 6639088 A G rs1043262 NCAPD2 Synonymous SNV V1267V 0.664 0.656 0.684 275 779 252 0.705 201 256 80 69 92 4.682 10605 chr12 66725137 66725137 C T rs17180665 HELB Synonymous SNV S958S 0.018 0.023 0.024 11 21 9 0.028 7 0 0 0 0 11.58 10606 chr12 11214509 11214509 C T rs774285403 TAS2R46 Nonsynonymous SNV V129I 0.034 0.016 0 12 40 6 0.031 0 0 0 0 0 0.001 10607 chr12 66725160 66725160 C T rs1185244 HELB Nonsynonymous SNV P966L 0.382 0.344 0.344 130 449 132 0.333 101 70 28 17 21 7.7 10608 chr2 179629363 179629363 T C rs4894043 TTN Synonymous SNV E3247E 0.994 0.997 0.997 386 1167 383 0.99 293 580 191 146 191 Benign 5.716 10609 chr12 10251498 10251498 C T rs148373579 CLEC1A Synonymous SNV T8T 0.014 0.021 0.02 5 16 8 0.013 6 0 0 0 0 19.7 10610 chr12 105550565 105550565 C T rs35149056 WASHC4 Synonymous SNV A941A 0.09 0.109 0.071 33 106 42 0.085 21 6 1 0 2 17.06 10611 chr2 152520322 152520322 G A rs199694315 NEB Nonsynonymous SNV R1835W 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Uncertain significance 34 10612 chr2 179629461 179629461 C T rs2291311 TTN Nonsynonymous SNV V3215M 0.94 0.945 0.966 368 1104 363 0.944 284 518 171 137 174 Benign 21.6 10613 chr12 10271087 10271087 A C rs16910526 CLEC7A Stop gain Y159X 0.083 0.128 0.061 26 97 49 0.067 18 4 6 1 0 Benign 35 10614 chr12 66725202 66725202 C T rs1168312 HELB Nonsynonymous SNV T980I 0.112 0.125 0.119 33 132 48 0.085 35 7 3 4 0 16.41 10615 chr12 11214510 11214510 A G rs762164220 TAS2R46 Synonymous SNV V128V 0.032 0.013 0 10 37 5 0.026 0 0 0 0 0 0.005 10616 chr12 112375990 112375990 A C rs3752630 TMEM116 Nonsynonymous SNV C79G 0.159 0.156 0.17 84 187 60 0.215 50 15 1 3 6 0.018 10617 chr2 179642425 179642425 G A rs719201 LOC101927055 0.988 0.982 0.98 386 1160 377 0.99 288 574 185 141 191 Benign 8.67 10618 chr12 66731864 66731864 C A rs1168329 HELB Synonymous SNV T1082T 0.386 0.346 0.327 132 453 133 0.338 96 78 30 16 23 16.19 10619 chr2 179644035 179644035 G A rs1552280 TTN Nonsynonymous SNV S1249L 0.988 0.982 0.98 386 1160 377 0.99 288 574 185 142 191 Benign 19.99 10620 chr12 66786091 66786091 G C rs13277 GRIP1 Nonsynonymous SNV Q769E 0.984 0.99 0.986 384 1155 380 0.985 290 568 188 144 189 Benign 5.736 10621 chr12 121622196 121622196 A G rs2230912 P2RX7 Nonsynonymous SNV Q460R 0.129 0.125 0.17 55 151 48 0.141 50 16 1 2 2 7.735 10622 chr12 112471090 112471090 G T rs12298022 NAA25 Nonsynonymous SNV L915I 0.108 0.091 0.092 44 127 35 0.113 27 8 0 1 1 22.5 10623 chr12 103352174 103352174 - GCA ASCL1 Q62_A63insQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10624 chr12 103352649 103352649 C G rs731682 ASCL1 Synonymous SNV V209V 0.053 0.052 0.044 13 62 20 0.033 13 0 0 1 1 Benign 10.27 10625 chr12 67706466 67706466 G A rs1060350 CAND1 Synonymous SNV L1183L 0.612 0.555 0.609 231 719 213 0.592 179 206 63 57 65 3.184 10626 chr11 93400796 93400796 C T rs67112133 CEP295 Synonymous SNV I44I 0.081 0.083 0.105 32 95 32 0.082 31 3 0 3 2 17.08 10627 chr2 179644855 179644855 T C rs10497520 TTN Nonsynonymous SNV K1155E 0.889 0.878 0.888 346 1044 337 0.887 261 462 146 121 153 Benign 19.62 10628 chr12 6777070 6777072 TGC - rs3835029 ZNF384 Q400del 0.647 0.698 0.667 257 760 268 0.659 196 288 109 78 106 10629 chr11 93402006 93402006 A G rs61743303 CEP295 Synonymous SNV A114A 0.086 0.089 0.102 32 101 34 0.082 30 3 0 3 2 10.08 10630 chr12 106532342 106532342 C T rs3741887 NUAK1 Synonymous SNV A30A 0.056 0.052 0.048 14 66 20 0.036 14 4 0 0 0 14 10631 chr12 68052178 68052178 G T rs3741644 DYRK2 Synonymous SNV G424G 0.517 0.542 0.483 181 607 208 0.464 142 167 55 40 41 0.082 10632 chr2 179650408 179650408 G A rs35813871 TTN Nonsynonymous SNV T765I 0.261 0.25 0.276 126 307 96 0.323 81 44 9 9 21 Benign/Likely benign 20.7 10633 chr12 68708761 68708761 C T rs2306393 MDM1 Nonsynonymous SNV R209H 0.73 0.698 0.707 293 857 268 0.751 208 314 97 78 108 13.86 10634 chr2 179650701 179650701 C T rs6715406 TTN Synonymous SNV E702E 0.386 0.388 0.364 127 453 149 0.326 107 89 27 24 22 Benign 11.93 10635 chr12 68709892 68709892 C T rs17224810 MDM1 Nonsynonymous SNV V103I 0.11 0.12 0.092 44 129 46 0.113 27 10 0 2 2 0.001 10636 chr12 121678327 121678327 - TTT rs398021385 CAMKK2 K538_G539insK 0.286 0.297 0.238 140 336 114 0.359 70 42 9 10 22 10637 chr2 179702268 179702268 A G rs1032283 CCDC141 Synonymous SNV P1226P 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 0.243 10638 chr12 68720335 68720335 C T rs17224845 MDM1 Synonymous SNV L200L 0.175 0.18 0.184 89 205 69 0.228 54 13 6 6 6 13.26 10639 chr2 153435434 153435434 C T rs16831399 FMNL2 Synonymous SNV H246H 0.149 0.128 0.133 66 175 49 0.169 39 11 3 3 6 16.5 10640 chr2 179839833 179839833 A G rs10930846 CCDC141 Synonymous SNV S159S 0.272 0.245 0.286 109 319 94 0.279 84 38 14 11 14 7.062 10641 chr11 93460160 93460160 A C rs67879380 CEP295 Nonsynonymous SNV E2173A 0.089 0.091 0.105 34 105 35 0.087 31 3 0 3 2 23 10642 chr12 68720627 68720627 G A rs962976 MDM1 Nonsynonymous SNV T103I 0.729 0.701 0.718 294 856 269 0.754 211 314 98 77 109 9.09 10643 chr12 121878659 121878659 C T rs1064951 KDM2B Synonymous SNV Q1121Q 0.306 0.266 0.313 103 359 102 0.264 92 56 16 14 13 11.9 10644 chr2 179914649 179914649 G A rs115554157 CCDC141 Nonsynonymous SNV P7L 0.018 0.01 0.01 4 21 4 0.01 3 0 0 0 0 10.54 10645 chr2 153575972 153575972 A G rs3748938 ARL6IP6 Nonsynonymous SNV K25R 0.609 0.62 0 219 715 238 0.562 0 212 73 0 57 2.51 10646 chr12 121880520 121880520 G A rs3751131 KDM2B Synonymous SNV D839D 0.298 0.276 0.31 100 350 106 0.256 91 55 16 14 13 0.07 10647 chr12 68724951 68724951 G T rs3741808 MDM1 Synonymous SNV S23S 0.73 0.701 0.718 295 857 269 0.756 211 315 98 77 110 10.64 10648 chr2 153576006 153576006 T C rs3748937 ARL6IP6 Synonymous SNV F36F 0.61 0.62 0 219 716 238 0.562 0 213 73 0 57 3.291 10649 chr2 180047908 180047908 T C rs6757681 SESTD1 Synonymous SNV K21K 0.78 0.771 0.776 282 916 296 0.723 228 363 115 87 103 1.49 10650 chr12 6887020 6887020 T C rs870849 LAG3 Nonsynonymous SNV I455T 0.566 0.557 0.575 216 665 214 0.554 169 194 62 50 58 1.145 10651 chr12 121881848 121881848 G A rs10849885 KDM2B Synonymous SNV Y775Y 0.296 0.263 0.282 101 347 101 0.259 83 50 15 14 13 5.872 10652 chr2 180308028 180308028 C T rs2367796 ZNF385B Synonymous SNV G323G 0.187 0.188 0.139 70 219 72 0.179 41 21 6 3 6 0.385 10653 chr12 104187022 104187022 G A rs61763005 NT5DC3 Synonymous SNV I313I 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 16.71 10654 chr12 121882098 121882098 T G rs3817551 MIR7107 0.31 0.279 0.313 107 364 107 0.274 92 56 16 14 13 17.92 10655 chr12 69082805 69082805 G A rs2259588 NUP107 Synonymous SNV R24R 0.307 0.276 0.31 138 361 106 0.354 91 54 12 13 23 9.872 10656 chr2 180810180 180810180 C T rs6433817 CWC22 Synonymous SNV A801A 0.71 0.729 0.67 268 833 280 0.687 197 300 106 71 92 12.09 10657 chr11 93583590 93583590 G A rs11020541 VSTM5 Nonsynonymous SNV R27C 0.022 0.018 0.037 9 26 7 0.023 11 1 1 1 0 21.6 10658 chr12 69115698 69115698 G A rs17851475 NUP107 Synonymous SNV Q434Q 0.309 0.281 0.31 138 363 108 0.354 91 54 12 13 23 7.885 10659 chr2 180810264 180810264 A T rs6433818 CWC22 Nonsynonymous SNV S773R 0.858 0.865 0.816 334 1007 332 0.856 240 428 143 104 143 0.017 10660 chr12 69140339 69140339 G C rs61743810 SLC35E3 Nonsynonymous SNV C61S 0.018 0.018 0.024 2 21 7 0.005 7 0 0 0 0 15.83 10661 chr12 122064785 122064785 A G rs554617167 ORAI1 Synonymous SNV P46P 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Benign 7.484 10662 chr12 104408794 104408794 C T rs17035120 GLT8D2 Nonsynonymous SNV A37T 0.035 0.031 0.037 12 41 12 0.031 11 2 0 0 0 0.711 10663 chr2 158390468 158390468 T C rs7594480 ACVR1C Nonsynonymous SNV I325V 0.049 0.055 0.037 29 57 21 0.074 11 0 0 1 1 22.9 10664 chr12 122064788 122064788 - T rs375895928 ORAI1 Frameshift insertion P48Sfs*42 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 10665 chr12 69252715 69252715 A G rs1143653 CPM Synonymous SNV S359S 0.229 0.208 0.252 91 269 80 0.233 74 37 14 8 13 6.893 10666 chr2 180835792 180835792 T A rs3768837 CWC22 Synonymous SNV V272V 0.805 0.82 0.796 319 945 315 0.818 234 387 132 96 130 12.05 10667 chr12 122079189 122079189 C T rs3741595 ORAI1 Synonymous SNV I184I 0.221 0.214 0.146 103 260 82 0.264 43 24 3 3 15 Benign 13.99 10668 chr12 69260779 69260779 C T rs33925480 CPM Synonymous SNV T279T 0.131 0.141 0.143 68 154 54 0.174 42 11 5 2 2 15.7 10669 chr2 182374534 182374534 A G rs1143674 ITGA4 Synonymous SNV T615T 0.574 0.539 0.646 215 674 207 0.551 190 235 72 63 64 10.28 10670 chr12 122079441 122079441 T C rs3825175 ORAI1 Synonymous SNV T268T 0.434 0.414 0.282 177 509 159 0.454 83 107 29 12 42 Benign 0.044 10671 chr2 182395345 182395345 G A rs1143676 ITGA4 Nonsynonymous SNV R878Q 0.673 0.63 0.701 260 790 242 0.667 206 270 82 72 80 1.213 10672 chr12 6926363 6926363 T C rs1055141 CD4 Synonymous SNV S162S 0.514 0.549 0.5 220 604 211 0.564 147 161 59 33 58 0.684 10673 chr12 108910842 108910842 C T rs375982873 FICD Synonymous SNV S31S 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 14.69 10674 chr12 69265578 69265578 A G rs2228654 CPM Synonymous SNV Y139Y 0.517 0.49 0.514 186 607 188 0.477 151 152 50 40 47 2.992 10675 chr12 6928075 6928075 T C rs12821756 CD4 Synonymous SNV C268C 0.509 0.547 0.514 221 598 210 0.567 151 160 59 36 59 0.01 10676 chr2 182399097 182399097 T C rs7562325 ITGA4 Synonymous SNV H961H 0.627 0.576 0.65 243 736 221 0.623 191 230 66 65 69 5.306 10677 chr12 6933589 6933589 C T rs75167863 GPR162 Synonymous SNV I175I 0.037 0.039 0.054 14 43 15 0.036 16 0 0 1 0 10.64 10678 chr2 182399638 182399638 A G rs2124443 ITGA4 Synonymous SNV L993L 1 1 0.976 389 1174 384 0.997 287 587 192 143 194 10.21 10679 chr2 158971618 158971618 C G rs150948745 UPP2 Synonymous SNV V62V 0.014 0.023 0.027 9 17 9 0.023 8 0 0 0 0 9.712 10680 chr11 94277897 94277897 G A rs201519706 FUT4 Nonsynonymous SNV G200R 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 7.64 10681 chr12 69744014 69744014 C A rs1800973 LYZ Nonsynonymous SNV T88N 0.049 0.031 0.065 24 57 12 0.062 19 0 0 1 0 Benign 25.2 10682 chr2 182403851 182403851 G A rs10180793 CERKL Synonymous SNV D389D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 10.96 10683 chr12 108954862 108954862 G C rs2072579 SART3 Nonsynonymous SNV D23E 0.202 0.182 0.167 72 237 70 0.185 49 24 5 4 7 7.743 10684 chr2 182468803 182468803 T G rs61750041 CERKL Nonsynonymous SNV D81A 0.081 0.076 0.034 35 95 29 0.09 10 11 1 1 0 Benign 18.73 10685 chr12 69986788 69986788 A G rs1043434 CCT2 Synonymous SNV T214T 0.295 0.229 0.289 102 346 88 0.262 85 59 13 12 15 3.121 10686 chr12 70274066 70274066 A G rs17813773 MYRFL Nonsynonymous SNV R184G 0.268 0.232 0.279 101 315 89 0.259 82 46 16 10 13 14.46 10687 chr2 182521578 182521578 G A rs1473295 CERKL Synonymous SNV F52F 0.455 0.409 0.503 180 534 157 0.462 148 119 39 45 39 Benign 19.19 10688 chr12 70330087 70330087 A G rs813147 MYRFL Synonymous SNV P672P 0.849 0.875 0.891 329 997 336 0.844 262 428 147 117 137 0.068 10689 chr2 182543455 182543455 T C rs1801262 NEUROD1 Nonsynonymous SNV T45A 0.581 0.568 0.585 235 682 218 0.603 172 199 68 55 71 Benign 5.076 10690 chr2 159663616 159663616 G A rs12535 DAPL1 Nonsynonymous SNV A66T 0.286 0.299 0.289 120 336 115 0.308 85 54 18 11 18 0.678 10691 chr12 70351684 70351684 C A rs10879065 MYRFL Nonsynonymous SNV L845M 0.331 0.344 0.405 129 389 132 0.331 119 69 23 22 24 0.522 10692 chr12 102045031 102045031 A T rs825045 MYBPC1 Synonymous SNV T411T 0.05 0.065 0.024 17 59 25 0.044 7 2 1 0 0 Benign 0.031 10693 chr12 7065635 7065635 T C rs2110072 PTPN6 Synonymous SNV G326G 0.971 0.964 0.942 377 1140 370 0.967 277 554 178 131 182 7.349 10694 chr2 182792965 182792965 G A rs34728960 ITPRID2 Synonymous SNV A1076A 0.04 0.023 0.041 10 47 9 0.026 12 0 0 0 0 15.07 10695 chr12 122359397 122359397 - GAGGAGGAGGAGAAA rs1030446606 WDR66 E65_G66insEKEEE 0.882 0.878 0.84 348 1036 337 0.892 247 454 146 114 154 10696 chr12 7080212 7080212 T C rs17857448 EMG1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.5 10697 chr12 70928616 70928616 G A rs3752703 PTPRB Synonymous SNV C1759C 0.323 0.31 0.327 103 379 119 0.264 96 60 21 19 17 13.25 10698 chr2 182981968 182981968 A G rs1882212 PPP1R1C Synonymous SNV A92A 0.216 0.193 0.245 73 254 74 0.187 72 29 5 5 8 5.397 10699 chr12 70928724 70928724 A G rs582954 PTPRB Synonymous SNV D1723D 0.941 0.93 0.891 355 1105 357 0.91 262 523 167 117 161 8.3 10700 chr12 122674758 122674758 G A rs4758651 LRRC43 Synonymous SNV R248R 0.698 0.677 0.653 283 819 260 0.726 192 287 84 63 103 3.288 10701 chr2 183593697 183593697 C T rs288280 DNAJC10 Synonymous SNV S203S 0.685 0.727 0.728 285 804 279 0.731 214 288 99 83 104 12.8 10702 chr12 70953277 70953277 T C rs2303963 PTPRB Synonymous SNV A1212A 0.2 0.234 0.235 81 235 90 0.208 69 23 14 11 10 3.523 10703 chr2 160084473 160084473 A C rs2288110 TANC1 Synonymous SNV T1148T 0.336 0.292 0.357 131 394 112 0.336 105 66 15 20 20 0.069 10704 chr12 70983895 70983895 A C rs2165627 PTPRB Nonsynonymous SNV D415E 0.158 0.122 0.184 63 185 47 0.162 54 14 3 4 6 0.002 10705 chr12 122676013 122676013 A C rs11060167 LRRC43 Synonymous SNV R330R 0.216 0.19 0.184 76 254 73 0.195 54 20 6 4 8 0.017 10706 chr2 183622547 183622547 T G rs288334 DNAJC10 Nonsynonymous SNV H600Q 0.682 0.721 0.711 285 801 277 0.731 209 288 99 82 104 12.36 10707 chr12 70988287 70988287 A G rs34615667 PTPRB Synonymous SNV A274A 0.158 0.122 0.184 62 186 47 0.159 54 15 3 4 6 1.177 10708 chr2 160086653 160086653 C T rs4664276 TANC1 Synonymous SNV A1371A 0.34 0.294 0.361 133 399 113 0.341 106 66 15 21 21 2.464 10709 chr2 183627504 183627504 A G rs192618 DNAJC10 Synonymous SNV K701K 0.678 0.719 0.707 282 796 276 0.723 208 282 96 77 101 5.223 10710 chr12 70990054 70990054 T C rs2465811 PTPRB Nonsynonymous SNV S127G 0.271 0.185 0.299 79 318 71 0.203 88 47 9 12 5 11.67 10711 chr2 160086654 160086654 A G rs4664277 TANC1 Nonsynonymous SNV T1372A 0.34 0.294 0.361 133 399 113 0.341 106 66 15 21 21 0.001 10712 chr2 183817957 183817957 T A rs66829551 NCKAP1 Synonymous SNV S752S 0.081 0.086 0.099 27 95 33 0.069 29 7 1 1 2 11.74 10713 chr12 71002865 71002865 T A rs2717430 PTPRB Synonymous SNV T103T 0.431 0.398 0.456 152 506 153 0.39 134 112 31 35 22 15.22 10714 chr2 185800905 185800905 A T rs12476147 ZNF804A Nonsynonymous SNV Q261L 0.618 0.622 0.646 230 725 239 0.59 190 225 73 62 72 5.839 10715 chr2 160086692 160086692 A G rs3821296 TANC1 Synonymous SNV T1384T 0.336 0.292 0.361 132 395 112 0.338 106 66 15 21 20 0.919 10716 chr12 71002893 71002893 C T rs2252784 PTPRB Nonsynonymous SNV R94K 0.433 0.401 0.459 152 508 154 0.39 135 112 31 35 22 15.54 10717 chr12 113796560 113796560 A G rs200189038 PLBD2 Nonsynonymous SNV D52G 0.022 0.029 0.007 2 26 11 0.005 2 0 1 0 0 2.574 10718 chr2 185801747 185801747 G A rs4667001 ZNF804A Nonsynonymous SNV E542K 0.532 0.555 0.537 201 625 213 0.515 158 167 60 40 53 16.37 10719 chr12 123105143 123105143 C T rs2270775 KNTC1 Synonymous SNV H2089H 0.21 0.161 0.207 76 246 62 0.195 61 28 5 10 7 14.03 10720 chr2 160182302 160182302 C T rs415793 BAZ2B Nonsynonymous SNV S1988N 0.278 0.279 0.228 116 326 107 0.297 67 46 11 5 16 22.5 10721 chr12 71139664 71139664 T C rs3803036 PTPRR Nonsynonymous SNV K69R 0.752 0.773 0.776 298 883 297 0.764 228 323 119 89 111 9.234 10722 chr2 185801755 185801755 A G rs4667002 ZNF804A Synonymous SNV T544T 0.819 0.87 0.867 320 961 334 0.821 255 399 145 111 131 0.002 10723 chr12 123344021 123344021 G A rs2271051 HIP1R Nonsynonymous SNV V782M 0.075 0.081 0.065 33 88 31 0.085 19 3 2 2 0 6.514 10724 chr12 10313448 10313448 C G rs11053646 OLR1 Nonsynonymous SNV K167N 0.06 0.06 0.071 26 71 23 0.067 21 4 0 0 1 risk factor 19.77 10725 chr2 185801917 185801917 A G rs728534 ZNF804A Synonymous SNV K598K 0.208 0.216 0.19 85 244 83 0.218 56 26 8 4 7 0.054 10726 chr2 160294842 160294842 A G rs3213790 BAZ2B Nonsynonymous SNV L359S 0.184 0.174 0.173 86 216 67 0.221 51 18 3 3 9 0.314 10727 chr12 71155380 71155380 A G rs10506608 PTPRR Synonymous SNV F54F 0.084 0.102 0.122 45 99 39 0.115 36 5 4 1 3 1.876 10728 chr12 113825679 113825679 C T rs12425042 PLBD2 Nonsynonymous SNV R492C 0.166 0.172 0.109 57 195 66 0.146 32 18 7 0 3 22.6 10729 chr2 185802211 185802211 - ACA rs3046266 ZNF804A T697_I698insT 0.538 0.56 0.534 202 632 215 0.518 157 167 60 40 53 10730 chr12 71526593 71526593 G A rs2270587 TSPAN8 Synonymous SNV C152C 0.095 0.094 0.082 22 112 36 0.056 24 5 0 0 0 11.46 10731 chr2 185802243 185802243 C A rs1366842 ZNF804A Nonsynonymous SNV T707K 0.539 0.56 0.534 202 633 215 0.518 157 168 60 40 53 12.78 10732 chr12 71960208 71960208 G A rs1797372 LGR5 Synonymous SNV Q270Q 0.976 0.984 0.935 379 1146 378 0.972 275 560 186 129 184 6.255 10733 chr2 160310246 160310246 A G rs10202670 BAZ2B Nonsynonymous SNV M71T 0.192 0.18 0.17 87 225 69 0.223 50 19 3 3 9 22.7 10734 chr12 72013832 72013832 A G rs1298463 ZFC3H1 Synonymous SNV A1641A 0.822 0.768 0.806 309 965 295 0.792 237 398 115 94 125 0.798 10735 chr12 11420392 11420517 GGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC - PRB3 G223Sfs*13 0.253 0.263 0.194 90 297 101 0.231 57 42 16 22 4 10736 chr12 114261053 114261053 G A rs11066773 RBM19 Synonymous SNV S953S 0.147 0.138 0.15 51 172 53 0.131 44 13 2 5 3 13.3 10737 chr12 72372862 72372862 A G rs7305115 TPH2 Synonymous SNV P312P 0.601 0.635 0.619 230 705 244 0.59 182 208 78 52 67 Benign 0.075 10738 chr2 185802363 185802363 A G rs12477430 ZNF804A Nonsynonymous SNV H747R 0.703 0.708 0.789 267 825 272 0.685 232 298 92 91 96 0.001 10739 chr2 160604812 160604812 C T rs1427329 MARCHF7 Synonymous SNV P281P 0.296 0.313 0.344 141 347 120 0.362 101 57 18 18 20 6.512 10740 chr12 109677661 109677661 C A ACACB Nonsynonymous SNV N1563K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 10741 chr12 72416235 72416235 A T rs4290270 TPH2 Synonymous SNV A375A 0.589 0.609 0.65 219 692 234 0.562 191 201 70 59 59 Benign 1.455 10742 chr12 114374887 114374887 T C rs2290787 RBM19 Nonsynonymous SNV T665A 0.084 0.078 0.088 17 99 30 0.044 26 4 1 1 0 4.663 10743 chr12 123706208 123706208 C A MPHOSPH9 Nonsynonymous SNV V195L 0.009 0.013 0 11 11 5 0.028 0 0 0 0 0 11.7 10744 chr12 7249598 7249598 T C rs3742089 C1RL Nonsynonymous SNV I243V 0.363 0.372 0.381 133 426 143 0.341 112 69 29 22 23 12.32 10745 chr2 186625770 186625770 A G rs7562137 FSIP2 Synonymous SNV K378K 0.462 0.471 0.432 191 542 181 0.49 127 145 53 30 47 0.004 10746 chr12 104064574 104064574 G A rs17034336 STAB2 Nonsynonymous SNV R787Q 0.035 0.049 0.024 12 41 19 0.031 7 1 0 0 0 0.237 10747 chr12 114377835 114377835 A G rs2290788 RBM19 Nonsynonymous SNV I623T 0.088 0.081 0.092 17 103 31 0.044 27 4 1 1 0 23.2 10748 chr2 186627943 186627943 T C rs17228441 FSIP2 Nonsynonymous SNV I425T 0.497 0.495 0.452 195 583 190 0.5 133 146 53 31 47 11.43 10749 chr12 7254669 7254669 A C rs3742088 C1RL Synonymous SNV G105G 0.095 0.078 0.082 32 111 30 0.082 24 8 0 0 0 0.007 10750 chr12 118481007 118481007 C T rs113350351 WSB2 Nonsynonymous SNV D137N 0.02 0.047 0.017 9 24 18 0.023 5 0 0 0 1 21.7 10751 chr12 104069795 104069795 G A rs7973658 STAB2 Nonsynonymous SNV R881H 0.032 0.049 0.031 11 37 19 0.028 9 1 0 0 0 9.172 10752 chr12 72666485 72666485 A G rs74594364 TRHDE-AS1 0 0 0.534 0 0 0 0 157 0 0 49 0 2.073 10753 chr12 114377877 114377877 T C rs2290789 RBM19 Nonsynonymous SNV H609R 0.088 0.081 0.088 17 103 31 0.044 26 4 1 1 0 0.001 10754 chr2 186653546 186653546 G A rs3752671 FSIP2 Synonymous SNV T561T 0.121 0.094 0.129 40 142 36 0.103 38 12 1 2 1 13.89 10755 chr2 160639970 160639970 T C rs2114626 CD302, LY75-CD302 Synonymous SNV S26S 0.296 0.313 0.344 141 348 120 0.362 101 57 18 18 20 7.556 10756 chr12 72666488 72666488 G A rs78720771 TRHDE-AS1 0 0 0.537 0 0 0 0 158 0 0 49 0 0.168 10757 chr12 72666499 72666499 A G rs79761722 TRHDE-AS1 0 0 0.456 0 0 0 0 134 0 0 57 0 0.483 10758 chr11 95826674 95826674 C T rs61749254 MAML2 Nonsynonymous SNV G174D 0.012 0.021 0.007 4 14 8 0.01 2 0 0 0 0 26.1 10759 chr2 186654592 186654592 A G rs992822 FSIP2 Nonsynonymous SNV N910S 0.497 0.495 0.435 195 583 190 0.5 128 146 53 30 47 0.002 10760 chr12 7277236 7277236 T A rs2290237 RBP5 Nonsynonymous SNV M115L 0.389 0.401 0.367 155 457 154 0.397 108 88 28 27 32 8.8 10761 chr12 124104049 124104049 A G rs15587 DDX55 Synonymous SNV G468G 0.341 0.336 0.337 123 400 129 0.315 99 61 23 19 21 7.256 10762 chr2 186655726 186655726 G A rs10931199 FSIP2 Nonsynonymous SNV R1288Q 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 6.58 10763 chr12 7303574 7303574 C G CLSTN3 Synonymous SNV L814L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 10764 chr12 7463241 7463241 A T rs7968241 ACSM4 Synonymous SNV P173P 0.489 0.555 0.469 193 574 213 0.495 138 141 57 28 41 0.016 10765 chr12 124104686 124104686 G A rs3204541 DDX55 Synonymous SNV X601X 0.344 0.346 0.337 124 404 133 0.318 99 61 23 19 21 13.49 10766 chr12 104147073 104147073 C T rs376117465 STAB2 Nonsynonymous SNV A2219V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.7 10767 chr12 114383651 114383651 C T rs12321179 RBM19 Synonymous SNV K536K 0.088 0.081 0.092 17 103 31 0.044 27 4 1 1 0 16.44 10768 chr12 74932159 74932159 G C rs590352 ATXN7L3B Synonymous SNV L89L 0.716 0.729 0.718 279 841 280 0.715 211 303 104 78 101 16.18 10769 chr12 124144395 124144395 A G rs1051793 GTF2H3 Synonymous SNV P203P 0.447 0.451 0.378 159 525 173 0.408 111 108 41 25 33 7.478 10770 chr2 186656657 186656657 C T rs10173807 FSIP2 Synonymous SNV N1598N 0.618 0.589 0.582 234 726 226 0.6 171 219 67 47 69 10.59 10771 chr12 753331 753331 G A rs11613701 LOC100049716 0 0 0.133 0 0 0 0 39 0 0 2 0 7.424 10772 chr12 114386639 114386639 A G rs7966348 RBM19 Synonymous SNV Y425Y 0.088 0.078 0.088 17 103 30 0.044 26 4 1 1 0 5.782 10773 chr12 7551022 7551022 A T rs6488268 CD163L1 Nonsynonymous SNV L533M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.189 10774 chr12 124179417 124179417 T C rs7966867 TCTN2 Synonymous SNV P375P 0.484 0.495 0.432 170 568 190 0.436 127 135 50 31 38 Benign 0.144 10775 chr2 186656840 186656840 T C rs17815052 FSIP2 Synonymous SNV N1659N 0.227 0.219 0.235 88 266 84 0.226 69 37 12 7 12 0.023 10776 chr12 114395651 114395651 T C rs10850256 RBM19 Nonsynonymous SNV K259R 0.088 0.081 0.085 17 103 31 0.044 25 4 1 1 0 0.002 10777 chr12 119594512 119594512 G C rs140426282 SRRM4 Nonsynonymous SNV R582P 0.022 0.026 0.014 8 26 10 0.021 4 1 1 0 0 22.7 10778 chr2 186656956 186656956 T C rs17229201 FSIP2 Nonsynonymous SNV M1698T 0.498 0.495 0.449 195 585 190 0.5 132 147 53 30 47 0.001 10779 chr12 7551050 7551050 A C rs6488269 CD163L1 Synonymous SNV V523V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 10780 chr12 104378698 104378698 - A rs764159587 TDG Frameshift insertion D180Gfs*8 0.027 0.034 0.007 7 32 13 0.018 2 0 0 0 0 10781 chr12 75785100 75785100 C T rs11180483 GLIPR1L2 Synonymous SNV V68V 0.361 0.354 0.388 142 424 136 0.364 114 72 23 28 26 12.03 10782 chr12 117160873 117160873 G T rs118149811 C12orf49 Synonymous SNV L89L 0.008 0.005 0.02 7 9 2 0.018 6 0 0 0 0 9.599 10783 chr12 104378700 104378700 T G rs760400700 TDG 0.031 0.039 0.007 7 36 15 0.018 2 0 0 0 0 25.6 10784 chr12 76424938 76424940 TGC - rs111754051 PHLDA1 Q204del 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 10785 chr2 186657089 186657089 C A rs17229222 FSIP2 Synonymous SNV S1742S 0.498 0.495 0.446 195 585 190 0.5 131 147 53 30 47 12 10786 chr12 7649484 7649484 T C rs4883263 CD163 Nonsynonymous SNV I342V 0.953 0.948 0.932 378 1119 364 0.969 274 533 172 129 183 0.052 10787 chr12 100452832 100452832 C T rs11832216 UHRF1BP1L Synonymous SNV P741P 0.034 0.049 0.024 12 40 19 0.031 7 0 0 0 0 3.085 10788 chr2 186658056 186658056 G A rs60029104 FSIP2 Nonsynonymous SNV D2065N 0.497 0.49 0.432 192 584 188 0.492 127 146 52 28 45 0.001 10789 chr12 100482866 100482866 G A rs17851246 UHRF1BP1L Nonsynonymous SNV T283I 0.034 0.047 0.024 12 40 18 0.031 7 0 0 0 0 20.5 10790 chr12 7649653 7649653 T C rs4883264 CD163 Synonymous SNV G285G 0.752 0.711 0.786 292 883 273 0.749 231 339 97 89 111 3.431 10791 chr2 186658438 186658438 C T rs10490391 FSIP2 Nonsynonymous SNV T2192M 0.5 0.495 0.446 195 587 190 0.5 131 147 53 30 47 0.015 10792 chr12 7655137 7655137 A G rs3210140 CD163 Synonymous SNV L24L 0.67 0.648 0.741 265 787 249 0.679 218 269 80 80 94 0.064 10793 chr12 77419341 77419341 A T rs310831 E2F7 Nonsynonymous SNV H854Q 0.097 0.099 0.109 35 114 38 0.09 32 3 2 2 1 0.002 10794 chr2 186658565 186658565 G T rs10490392 FSIP2 Nonsynonymous SNV E2234D 0.497 0.495 0.432 194 583 190 0.497 127 146 53 30 46 1.467 10795 chr12 117628221 117628221 G A rs757237900 FBXO21 Nonsynonymous SNV P14L 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 23.1 10796 chr12 77419593 77419593 A G rs310830 E2F7 Synonymous SNV S770S 0.098 0.099 0.109 35 115 38 0.09 32 4 2 2 1 0.414 10797 chr2 186659359 186659359 G T rs2161036 FSIP2 Nonsynonymous SNV R2499M 0.497 0.495 0.439 195 584 190 0.5 129 146 53 30 47 4.005 10798 chr12 77449790 77449790 A G rs310791 E2F7 Nonsynonymous SNV F72L 0.852 0.836 0.867 314 1000 321 0.805 255 422 133 110 122 3.073 10799 chr12 120436408 120436408 G A rs6490279 BICDL1 Synonymous SNV E171E 0.041 0.034 0.041 14 48 13 0.036 12 2 0 1 0 11.68 10800 chr12 124337772 124337772 C T rs33935373 DNAH10 Nonsynonymous SNV T1986M 0.03 0.016 0.01 8 35 6 0.021 3 1 0 0 0 Benign 32 10801 chr12 7803646 7803646 G A rs10431309 APOBEC1 Synonymous SNV Y133Y 0.303 0.336 0.282 134 356 129 0.344 83 35 23 16 23 0.229 10802 chr2 186661673 186661673 A G rs55938253 FSIP2 Synonymous SNV L3270L 0.498 0.495 0.449 195 585 190 0.5 132 147 53 30 47 0.023 10803 chr2 160983060 160983060 G C rs2305819 ITGB6 Synonymous SNV G476G 0.065 0.073 0.099 27 76 28 0.069 29 3 0 2 3 12.3 10804 chr12 120527791 120527791 G A rs2286041 BICDL1 Synonymous SNV R492R 0.041 0.034 0.041 14 48 13 0.036 12 2 0 1 0 12.34 10805 chr12 7805236 7805236 C G rs2302515 APOBEC1 Nonsynonymous SNV M35I 0.93 0.945 0.905 361 1092 363 0.926 266 510 171 122 167 0.868 10806 chr2 186664473 186664473 T C rs11686997 FSIP2 Synonymous SNV Y3480Y 0.498 0.495 0.415 195 585 190 0.5 122 147 53 30 47 0.006 10807 chr12 124387574 124387574 G A rs58411567 DNAH10 Synonymous SNV E3125E 0.195 0.221 0.231 89 229 85 0.228 68 23 12 8 9 Benign 3.905 10808 chr2 186664963 186664963 C A rs10931200 FSIP2 Nonsynonymous SNV L3644I 0.498 0.492 0.449 195 585 189 0.5 132 147 53 30 47 0.001 10809 chr12 78225374 78225374 A G rs10735309 NAV3 Nonsynonymous SNV T45A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.519 10810 chr12 124387586 124387586 A G rs61587964 DNAH10 Synonymous SNV A3129A 0.193 0.224 0.231 89 227 86 0.228 68 23 13 8 9 Benign 0.036 10811 chr2 162363930 162363930 G A rs139302533 AHCTF1P1 0.124 0.122 0.119 46 145 47 0.118 35 7 2 2 1 1.727 10812 chr12 105380185 105380185 G C rs117368247 C12orf45 Nonsynonymous SNV D19H 0.022 0.026 0.044 8 26 10 0.021 13 0 0 0 0 18.47 10813 chr2 162696414 162696414 C T rs2084543 SLC4A10 Synonymous SNV D82D 0.084 0.091 0.095 28 99 35 0.072 28 3 0 2 0 Benign 17.29 10814 chr2 186665432 186665432 G A rs36004074 FSIP2 Nonsynonymous SNV G3800E 0.497 0.495 0.446 195 584 190 0.5 131 146 53 30 47 0.002 10815 chr12 78530979 78530979 G A rs1852464 NAV3 Synonymous SNV Q1488Q 0.603 0.63 0.582 248 708 242 0.636 171 218 77 48 77 0.31 10816 chr2 162890142 162890142 C T rs56179129 DPP4 Nonsynonymous SNV V266I 0.005 0.013 0 4 6 5 0.01 0 0 0 0 0 Likely benign 22.7 10817 chr12 78542699 78542699 T C rs366527 NAV3 Synonymous SNV N1595N 0.242 0.216 0.241 98 284 83 0.251 71 49 9 8 16 9.831 10818 chr2 186665824 186665824 A G rs11695215 FSIP2 Nonsynonymous SNV N3931D 0.498 0.495 0.446 195 585 190 0.5 131 147 53 30 47 10.11 10819 chr2 162929979 162929979 A G rs17574 DPP4 Synonymous SNV L8L 0.338 0.302 0.323 125 397 116 0.321 95 70 15 12 22 19.61 10820 chr12 78598891 78598891 G A rs9971904 NAV3 Synonymous SNV P2315P 0.399 0.438 0.422 138 469 168 0.354 124 83 37 23 19 0.469 10821 chr12 124798801 124798801 C T rs12318072 RFLNA, ZNF664-RFLNA Synonymous SNV P127P 0.164 0.167 0.167 63 193 64 0.162 49 21 6 6 6 9.375 10822 chr2 186667121 186667121 T C rs7605884 FSIP2 Nonsynonymous SNV F4363S 0.498 0.495 0.446 195 585 190 0.5 131 147 53 30 47 11.87 10823 chr2 163124051 163124051 C T rs1990760 IFIH1 Nonsynonymous SNV A946T 0.535 0.565 0.527 206 628 217 0.528 155 166 67 39 55 Benign 13.42 10824 chr12 124821413 124821413 G A rs2230944 NCOR2 Nonsynonymous SNV P1991S 0.064 0.044 0.034 30 75 17 0.077 10 1 1 1 2 0.227 10825 chr12 7867847 7867847 G C rs2024320 DPPA3 Nonsynonymous SNV E51Q 0.219 0.24 0.214 85 257 92 0.218 63 35 12 9 8 0.001 10826 chr2 186667360 186667360 A C rs7565527 FSIP2 Nonsynonymous SNV I4443L 0.121 0.094 0.136 40 142 36 0.103 40 12 1 2 1 5.745 10827 chr12 119540062 119540062 C T rs73213729 SRRM4 Synonymous SNV P51P 0.02 0.013 0.02 10 23 5 0.026 6 0 0 0 0 13.07 10828 chr12 79611374 79611374 C T rs2037743 SYT1 Synonymous SNV N25N 0.681 0.664 0.66 250 799 255 0.641 194 272 80 55 80 10.77 10829 chr12 124821416 124821416 C T rs2227277 NCOR2 Nonsynonymous SNV A1990T 0.064 0.044 0.034 30 75 17 0.077 10 1 1 1 2 12.71 10830 chr12 120741382 120741382 G A rs61748115 SIRT4 Synonymous SNV A6A 0.046 0.049 0.044 16 54 19 0.041 13 1 1 1 1 15.35 10831 chr12 119554751 119554751 C G rs73213764 SRRM4 Synonymous SNV S125S 0.019 0.013 0.02 9 22 5 0.023 6 0 0 0 0 16.34 10832 chr12 7980137 7980137 A G rs755676277 SLC2A14 Nonsynonymous SNV I187T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.5 10833 chr2 186670104 186670104 A C rs7576532 FSIP2 Nonsynonymous SNV E5357D 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 0.043 10834 chr12 119568596 119568596 G A rs7297606 SRRM4 Nonsynonymous SNV S243N 0.098 0.065 0.082 29 115 25 0.074 24 8 1 1 0 2.904 10835 chr12 113565933 113565933 G A rs34598602 RASAL1 Nonsynonymous SNV T58M 0.049 0.063 0.051 27 58 24 0.069 15 0 1 0 1 31 10836 chr12 120750517 120750517 A G rs16950058 SIRT4 Synonymous SNV E252E 0.046 0.049 0.044 16 54 19 0.041 13 1 1 1 1 10.36 10837 chr2 163136505 163136505 C G rs35337543 IFIH1 0.018 0.013 0.014 7 21 5 0.018 4 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 10838 chr12 80014907 80014907 A T rs2307223 PAWR Synonymous SNV I199I 0.721 0.729 0.745 287 847 280 0.736 219 301 102 83 107 1.104 10839 chr2 186670780 186670780 T A rs16827154 FSIP2 Nonsynonymous SNV Y5583N 0.495 0.492 0.395 194 581 189 0.497 116 143 53 29 46 12.2 10840 chr12 120762837 120762837 A G rs5634 PLA2G1B Synonymous SNV Y74Y 0.04 0.047 0.044 15 47 18 0.038 13 1 1 1 1 0.9 10841 chr12 113589762 113589762 A G rs61738692 CFAP73 Synonymous SNV V32V 0.045 0.07 0.051 24 53 27 0.062 15 0 1 0 1 0.922 10842 chr12 8043688 8043688 G C rs7297809 SLC2A14 Synonymous SNV L12L 0.692 0.727 0.745 292 812 279 0.749 219 285 102 84 108 2.226 10843 chr12 120960057 120960057 C T rs503335 COQ5 Synonymous SNV P104P 0.099 0.07 0.116 35 116 27 0.09 34 8 0 3 3 11.78 10844 chr12 110841437 110841437 C T rs141147170 ANAPC7 Nonsynonymous SNV S33N 0.061 0.07 0.044 26 72 27 0.067 13 0 3 1 0 8.565 10845 chr12 80712420 80712420 G A rs10778725 OTOGL Synonymous SNV P1234P 0.963 0.971 0.983 381 1130 373 0.977 289 562 186 142 188 Benign 10.85 10846 chr2 165476253 165476253 A T rs61748245 GRB14 Nonsynonymous SNV F90I 0.596 0.596 0.588 233 700 229 0.597 173 204 67 52 72 19.79 10847 chr2 186670979 186670979 T C rs4666689 FSIP2 Nonsynonymous SNV I5649T 0.876 0.906 0.861 349 1029 348 0.895 253 454 157 109 155 0.003 10848 chr12 113596866 113596866 G A rs1048889 DDX54 Nonsynonymous SNV P822L 0.045 0.068 0.048 24 53 26 0.062 14 0 1 0 1 22.9 10849 chr12 124856618 124856618 A G rs7961196 NCOR2 Synonymous SNV A901A 0.256 0.25 0.262 108 301 96 0.277 77 36 13 10 11 10.39 10850 chr12 80747242 80747242 A G rs7297767 OTOGL Nonsynonymous SNV I1840V 0.858 0.823 0.878 325 1007 316 0.833 258 435 129 113 136 Benign 7.921 10851 chr12 124857033 124857033 C T rs7978237 NCOR2 Nonsynonymous SNV G763E 0.046 0.044 0.044 25 54 17 0.064 13 4 1 0 2 0.169 10852 chr12 113600940 113600940 C T rs11564 DDX54 Nonsynonymous SNV R693Q 0.045 0.07 0.051 24 53 27 0.062 15 0 1 0 1 23.8 10853 chr2 186671357 186671357 G A rs17826534 FSIP2 Nonsynonymous SNV R5775Q 0.498 0.495 0.442 195 585 190 0.5 130 147 53 30 47 7.55 10854 chr12 80771813 80771813 G A rs2717477 OTOGL Synonymous SNV T2340T 0.848 0.815 0.854 317 996 313 0.813 251 425 127 107 129 Benign 11.85 10855 chr2 165586466 165586466 T C rs13392281 COBLL1 Synonymous SNV P130P 0.166 0.159 0.19 52 195 61 0.133 56 13 7 3 2 4.325 10856 chr12 8082409 8082409 A C rs59397047 SLC2A3 Nonsynonymous SNV D244E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.001 10857 chr2 186671912 186671912 G A rs1862066 FSIP2 Nonsynonymous SNV R5960H 0.502 0.495 0.442 194 589 190 0.497 130 148 53 30 46 8.413 10858 chr12 113623241 113623241 C G rs2290766 DDX54 Nonsynonymous SNV G6R 0.043 0.055 0.051 23 51 21 0.059 15 0 1 0 1 0.075 10859 chr12 80878310 80878310 C G rs61729287 PTPRQ Nonsynonymous SNV Q257E 0.021 0.018 0.027 7 25 7 0.018 8 0 0 0 0 Benign/Likely benign 23.6 10860 chr2 166245230 166245230 T A rs2060198 SCN2A Synonymous SNV R1638R 0.246 0.271 0.289 103 289 104 0.264 85 35 13 13 13 Benign 0.39 10861 chr2 186672527 186672527 T A rs72900086 FSIP2 Nonsynonymous SNV L6165Q 0.227 0.219 0.231 89 266 84 0.228 68 37 12 7 12 0.002 10862 chr12 113629471 113629471 C A rs34831139 RITA1 Nonsynonymous SNV T244K 0.045 0.07 0.051 24 53 27 0.062 15 0 1 0 1 14.02 10863 chr12 80889829 80889829 T A rs10778752 PTPRQ Nonsynonymous SNV V473D 0.918 0.898 0.895 342 1078 345 0.877 263 493 155 117 153 Benign 25.5 10864 chr2 186697876 186697876 A G rs1468999 FSIP2 Nonsynonymous SNV T6883A 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 0.211 10865 chr2 166740469 166740469 A G rs115504901 TTC21B Synonymous SNV T1173T 0.022 0.018 0.034 15 26 7 0.038 10 1 0 0 0 Benign 11.07 10866 chr12 113733830 113733830 C T rs61943642 TPCN1 Synonymous SNV P732P 0.048 0.07 0.051 24 56 27 0.062 15 0 1 0 1 13.55 10867 chr12 80900348 80900348 T G rs7965277 PTPRQ Nonsynonymous SNV V647G 0.315 0.229 0.35 118 370 88 0.303 103 64 11 18 17 11.93 10868 chr12 113737630 113737630 G A rs35785542 SLC8B1 Synonymous SNV V513V 0.048 0.07 0.051 24 56 27 0.062 15 0 1 0 1 10.15 10869 chr2 187532417 187532417 G A rs2230616 ITGAV Nonsynonymous SNV V747I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 18.78 10870 chr12 80935345 80935345 T C rs6539524 PTPRQ Nonsynonymous SNV F884L 0.345 0.26 0.354 127 405 100 0.326 104 68 12 19 21 0.37 10871 chr12 113758166 113758166 G A rs16942745 SLC8B1 Nonsynonymous SNV R222C 0.026 0.042 0.027 14 30 16 0.036 8 0 1 0 0 15.86 10872 chr12 121605355 121605355 G A rs7958311 P2RX7 Nonsynonymous SNV R270H 0.258 0.31 0.265 127 303 119 0.326 78 33 15 8 14 21.1 10873 chr2 187558960 187558960 G A rs2276562 FAM171B Synonymous SNV L20L 0.182 0.201 0.146 68 214 77 0.174 43 23 10 3 6 2.682 10874 chr12 80935365 80935365 C T rs61729275 PTPRQ Synonymous SNV Y890Y 0.073 0.049 0.095 25 86 19 0.064 28 2 1 1 1 6.967 10875 chr2 187559047 187559047 - CAA rs144403657 FAM171B Q56_K57insQ 0.389 0.362 0.347 145 457 139 0.372 102 92 24 21 28 10876 chr12 121622304 121622304 A C rs3751143 P2RX7 Nonsynonymous SNV E496A 0.271 0.258 0.224 78 318 99 0.2 66 44 11 6 11 27.8 10877 chr12 80936026 80936026 A G rs17713202 PTPRQ Nonsynonymous SNV N1030D 0.193 0.133 0.197 64 226 51 0.164 58 21 3 5 4 23.9 10878 chr2 187697929 187697929 T C rs142958653 ZSWIM2 Nonsynonymous SNV K287E 0.014 0 0 3 17 0 0.008 0 1 0 0 0 Benign 0.511 10879 chr12 121174899 121174899 T C rs3914 ACADS Synonymous SNV R107R 0.526 0.471 0.52 200 618 181 0.513 153 162 38 33 51 Benign 4.843 10880 chr12 11420853 11420853 G A rs200562169 PRB3 Synonymous SNV S110S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.094 10881 chr12 80936082 80936082 C T rs11114503 PTPRQ Synonymous SNV A1048A 0.344 0.258 0.347 124 404 99 0.318 102 67 11 18 21 14.56 10882 chr12 121175984 121175984 T C rs555404 ACADS Nonsynonymous SNV L202P 0.525 0.466 0.51 198 616 179 0.508 150 160 38 33 51 2.137 10883 chr2 188211112 188211112 C T rs3771095 CALCRL Synonymous SNV L395L 0.057 0.063 0.092 20 67 24 0.051 27 1 0 1 0 13.75 10884 chr12 102147154 102147154 C T rs137853825 GNPTAB Nonsynonymous SNV E1200K 0.011 0.018 0 3 13 7 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 10885 chr12 80943506 80943523 TGAAACAGGTAACTAACG - rs141686707 PTPRQ E1255Sfs*11 0.058 0.044 0.058 15 68 17 0.038 17 0 0 0 0 10886 chr2 188250301 188250301 T A rs698577 CALCRL Nonsynonymous SNV N8Y 0.988 0.99 0.929 389 1160 380 0.997 273 580 190 136 194 0.001 10887 chr12 121176083 121176083 G A rs1799958 ACADS Nonsynonymous SNV G209S 0.322 0.294 0.323 122 378 113 0.313 95 73 12 15 24 Benign/Likely benign 24.2 10888 chr12 81329536 81329536 A C rs2682818 MIR618 0 0 0.912 0 0 0 0 268 0 0 122 0 0.83 10889 chr12 125467158 125467158 C T rs11558556 DHX37 Nonsynonymous SNV M96I 0.357 0.367 0.361 127 419 141 0.326 106 76 27 16 19 19.94 10890 chr12 81647440 81647440 G A rs34272667 ACSS3 Synonymous SNV K661K 0.01 0.008 0.02 6 12 3 0.015 6 0 0 0 0 11.69 10891 chr2 188343497 188343497 T C rs7586970 TFPI Nonsynonymous SNV N221S 0.426 0.404 0.418 179 500 155 0.459 123 97 31 20 40 20.2 10892 chr12 114392971 114392971 - GGT rs55840068 RBM19 T295_V296insT 0.038 0.029 0.027 13 45 11 0.033 8 0 0 0 0 10893 chr12 121176679 121176679 C T rs3915 ACADS Synonymous SNV R330R 0.525 0.466 0.51 198 616 179 0.508 150 161 38 34 51 Benign 14.55 10894 chr12 81769581 81769581 C T rs10862301 PPFIA2 Synonymous SNV L276L 0.238 0.219 0.252 74 279 84 0.19 74 37 6 9 8 10.79 10895 chr12 115112507 115112507 C G rs146589414 TBX3 Synonymous SNV A391A 0.034 0.031 0.031 10 40 12 0.026 9 1 0 0 0 Benign 6.14 10896 chr12 8278181 8278181 A T rs2024301 CLEC4A Nonsynonymous SNV H36L 0.683 0.685 0.673 255 802 263 0.654 198 279 89 64 80 0.404 10897 chr2 189864080 189864080 G A rs1800255 COL3A1 Nonsynonymous SNV A698T 0.308 0.294 0.262 148 362 113 0.379 77 58 20 14 31 Benign 22.9 10898 chr12 117160873 117160873 G A rs118149811 C12orf49 Synonymous SNV L89L 0.008 0.016 0 5 9 6 0.013 0 0 0 0 0 Benign 10.08 10899 chr12 107113769 107113769 G A rs17038732 RFX4 Synonymous SNV E296E 0.032 0.044 0.048 7 37 17 0.018 14 0 1 1 0 9.916 10900 chr12 121416650 121416650 A C rs1169288 HNF1A Nonsynonymous SNV I27L 0.394 0.354 0.395 134 462 136 0.344 116 91 19 25 23 Benign 25.6 10901 chr12 102494849 102494849 T C rs17438178 NUP37 Synonymous SNV R105R 0.027 0.021 0.014 7 32 8 0.018 4 1 0 1 0 9.688 10902 chr12 82783668 82783668 C T rs10778908 METTL25 Synonymous SNV I79I 0.962 0.969 0.956 371 1129 372 0.951 281 544 180 135 177 12.87 10903 chr12 107236397 107236397 A G rs17038800 RIC8B Synonymous SNV P273P 0.019 0.021 0.027 7 22 8 0.018 8 0 0 0 0 0.1 10904 chr2 189864582 189864582 T C rs1801184 COL3A1 Synonymous SNV G748G 0.346 0.354 0.401 111 406 136 0.285 118 64 22 31 19 Benign 0.306 10905 chr12 82792787 82792787 C A rs4296098 METTL25 Nonsynonymous SNV Q162K 0.962 0.969 0.956 371 1129 372 0.951 281 544 180 135 177 6.19 10906 chr2 189875421 189875421 T G rs1516446 COL3A1 Nonsynonymous SNV H1353Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 6.799 10907 chr12 12815037 12815037 C T rs41276680 GPR19 Nonsynonymous SNV V116I 0.032 0.026 0.044 12 38 10 0.031 13 0 1 0 0 0.009 10908 chr12 121435342 121435342 C T rs2259820 HNF1A Synonymous SNV L459L 0.366 0.323 0.367 119 430 124 0.305 108 84 17 21 15 Benign 14.2 10909 chr12 85277561 85277561 T A rs17183577 SLC6A15 Nonsynonymous SNV D278V 0.261 0.284 0.262 116 307 109 0.297 77 35 16 11 18 3.996 10910 chr12 117462124 117462124 G A rs142010584 FBXW8 Nonsynonymous SNV G448R 0.008 0.01 0.027 7 9 4 0.018 8 0 0 0 0 7.572 10911 chr2 189907937 189907937 A G rs6434312 COL5A2 Synonymous SNV G1137G 0.961 0.971 0.969 371 1128 373 0.951 285 542 181 138 176 4.507 10912 chr2 167163043 167163043 T C rs9646771 SCN9A Synonymous SNV P148P 0.601 0.609 0.656 232 706 234 0.595 193 209 68 63 72 Benign 0.048 10913 chr12 121435427 121435427 G A rs2464196 HNF1A Nonsynonymous SNV S487N 0.367 0.323 0.367 119 431 124 0.305 108 84 17 21 15 Benign 15.32 10914 chr12 85277608 85277608 C T rs17183612 SLC6A15 Synonymous SNV L262L 0.385 0.406 0.347 152 452 156 0.39 102 90 30 16 29 7.245 10915 chr2 189932831 189932831 T C rs2229495 COL5A2 Synonymous SNV P437P 0.957 0.964 0.963 372 1123 370 0.954 283 536 178 136 177 6.913 10916 chr2 167168093 167168093 C T rs6432901 SCN9A Synonymous SNV Q58Q 0.577 0.552 0.626 230 677 212 0.59 184 189 55 58 71 Benign 9.662 10917 chr12 102547741 102547741 G A rs114546604 PARPBP Nonsynonymous SNV R80H 0.013 0.013 0.003 2 15 5 0.005 1 0 0 0 0 13.51 10918 chr12 85638646 85638646 A - rs398102301 LRRIQ1 N1702Ifs*20 0.291 0.279 0.296 135 342 107 0.346 87 60 18 14 21 10919 chr2 189974958 189974958 G T rs4128539 COL5A2 Synonymous SNV T105T 0.956 0.964 0.956 372 1122 370 0.954 281 535 178 134 177 Benign 5.726 10920 chr2 167279922 167279922 C A rs6738031 SCN7A Nonsynonymous SNV M958I 0.592 0.612 0.401 247 695 235 0.633 118 252 84 48 83 6.237 10921 chr12 85674221 85674221 A G rs115440539 ALX1 Nonsynonymous SNV H61R 0.019 0.026 0.014 6 22 10 0.015 4 0 0 0 0 Benign 17.89 10922 chr12 102558369 102558369 C A rs75438625 PARPBP Nonsynonymous SNV Q136K 0.013 0.013 0.003 2 15 5 0.005 1 0 0 0 0 15.42 10923 chr2 190323530 190323530 A G rs1157910 WDR75 Synonymous SNV T207T 0.641 0.664 0.636 268 752 255 0.687 187 244 84 61 92 10.02 10924 chr12 129189850 129189850 C T rs7959567 TMEM132C Synonymous SNV C779C 0.079 0.073 0.068 26 93 28 0.067 20 2 0 0 0 9.966 10925 chr2 167334085 167334085 G T rs7565062 SCN7A Nonsynonymous SNV T41N 0.654 0.664 0.67 249 768 255 0.638 197 258 82 62 81 0.002 10926 chr12 862989 862989 T C rs3168640 WNK1 Synonymous SNV C86C 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.326 10927 chr2 190430177 190430177 A G rs2304704 SLC40A1 Synonymous SNV V221V 0.637 0.664 0.629 254 748 255 0.651 185 228 83 53 87 Benign 5.677 10928 chr12 8757481 8757481 G A rs2028373 AICDA Synonymous SNV H145H 0.593 0.555 0.602 239 696 213 0.613 177 232 74 60 79 Benign 2.154 10929 chr2 190531426 190531426 G A rs1437880 ASNSD1 Nonsynonymous SNV G190R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.063 10930 chr12 129190717 129190717 C T rs55760351 TMEM132C Synonymous SNV C1068C 0.079 0.073 0.068 26 93 28 0.067 20 2 0 0 0 9.557 10931 chr12 122392038 122392038 C T rs11043265 WDR66 Nonsynonymous SNV L445F 0.071 0.081 0.054 34 83 31 0.087 16 3 2 1 3 23 10932 chr12 88178272 88178274 GCC - rs10577456 MKRN9P 0 0 0.684 0 0 0 0 201 0 0 74 0 10933 chr12 88440676 88440676 G C rs9262 C12orf29 Nonsynonymous SNV V238L 0.627 0.643 0.595 246 736 247 0.631 175 225 78 54 81 7.98 10934 chr2 190595258 190595258 G T rs1225090 ANKAR Nonsynonymous SNV L1077F 0.997 0.995 0.99 383 1170 382 0.982 291 583 190 145 188 0.002 10935 chr12 122413196 122413196 T C rs77422261 WDR66 Nonsynonymous SNV F940L 0.059 0.06 0.034 27 69 23 0.069 10 0 1 0 1 29.7 10936 chr12 88505078 88505078 T C rs2468255 CEP290 Synonymous SNV S756S 0.909 0.94 0.878 348 1067 361 0.892 258 484 169 114 156 Benign 5.563 10937 chr12 121471337 121471337 G A rs3213545 OASL Synonymous SNV L136L 0.342 0.31 0.333 107 402 119 0.274 98 73 17 18 14 4.017 10938 chr2 190602513 190602513 T C rs1225099 ANKAR Synonymous SNV F1176F 0.997 0.995 0.976 383 1170 382 0.982 287 583 190 143 188 1.92 10939 chr12 88505633 88505633 A G rs45465996 CEP290 Synonymous SNV A685A 0.165 0.19 0.224 57 194 73 0.146 66 35 16 11 10 Benign 12.28 10940 chr2 190617643 190617643 A G rs2243876 OSGEPL1 Synonymous SNV N353N 0.997 0.995 0.997 384 1170 382 0.985 293 583 190 146 189 5.44 10941 chr12 129299446 129299446 A G rs33990080 SLC15A4 Nonsynonymous SNV V239A 0.107 0.081 0.122 33 126 31 0.085 36 5 1 2 1 20.6 10942 chr12 122516897 122516897 G A rs147186759 MLXIP Synonymous SNV A46A 0.205 0.206 0.259 100 241 79 0.256 76 26 6 8 15 10.93 10943 chr12 88547277 88547277 T C rs2468230 TMTC3 Synonymous SNV H44H 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 0.635 10944 chr2 191064753 191064753 C T rs6753459 C2orf88 Nonsynonymous SNV T56I 0.277 0.258 0.32 116 325 99 0.297 94 42 14 19 14 0.026 10945 chr12 89743223 89743223 G A rs704075 DUSP6 Synonymous SNV D172D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.395 10946 chr2 191161622 191161622 T C rs1058180 HIBCH Nonsynonymous SNV T46A 0.722 0.747 0.687 270 848 287 0.692 202 303 108 71 89 Benign 9.018 10947 chr12 89745477 89745477 C A rs2279574 DUSP6 Nonsynonymous SNV V114L 0.488 0.536 0.548 203 573 206 0.521 161 137 59 44 50 Benign 23.5 10948 chr12 129566406 129566406 C T rs79031518 TMEM132D Synonymous SNV T607T 0.176 0.159 0.099 52 207 61 0.133 29 22 3 1 4 14.81 10949 chr2 169938208 169938208 G A rs61995932 DHRS9 Synonymous SNV S39S 0.026 0.018 0.031 16 30 7 0.041 9 0 0 0 0 8.407 10950 chr12 122618042 122618042 G A rs113336247 MLXIP Nonsynonymous SNV D414N 0.032 0.039 0.044 14 37 15 0.036 13 0 1 0 0 19.67 10951 chr12 89917518 89917518 A G rs2230281 GALNT4, POC1B-GALNT4 Nonsynonymous SNV I270T 0.781 0.755 0.765 295 917 290 0.756 225 362 108 85 110 10.29 10952 chr2 191184475 191184475 A G rs291466 HIBCH Star tloss M1? 0.613 0.641 0.561 237 720 246 0.608 165 214 79 53 68 Benign 15.22 10953 chr12 9004512 9004512 G A rs1860927 A2ML1 Synonymous SNV P298P 0.901 0.898 0.878 353 1058 345 0.905 258 473 154 112 159 Benign 9.532 10954 chr2 191224981 191224981 G T rs4656 INPP1 Synonymous SNV T51T 0.361 0.339 0.367 150 424 130 0.385 108 68 24 22 30 10.21 10955 chr12 9004892 9004892 C A rs1860926 A2ML1 Nonsynonymous SNV D359E 0.999 1 0.986 388 1173 384 0.995 290 586 192 144 193 8.751 10956 chr2 191231458 191231458 G A rs11544940 INPP1 Synonymous SNV E101E 0.637 0.612 0.663 237 748 235 0.608 195 247 73 65 69 11.04 10957 chr12 9009820 9009820 G A rs1558526 A2ML1 Nonsynonymous SNV C479Y 0.28 0.281 0.279 117 329 108 0.3 82 52 17 11 13 Benign 26.6 10958 chr12 104379508 104379508 - GGAGTTAAGAGGAGA rs749286024 TDG 0.027 0.036 0 8 32 14 0.021 0 0 0 0 0 10959 chr2 191235901 191235901 A C rs1882891 INPP1 Synonymous SNV R325R 0.836 0.844 0.854 330 982 324 0.846 251 412 138 105 136 1.972 10960 chr12 130649134 130649134 C T rs61751357 FZD10 Synonymous SNV S549S 0.072 0.086 0.082 31 84 33 0.079 24 3 1 0 3 11.78 10961 chr2 191874667 191874667 A G rs2066802 STAT1 Synonymous SNV L21L 0.098 0.083 0.095 32 115 32 0.082 28 7 1 1 0 Benign 7.206 10962 chr12 9010671 9010671 G A rs11612600 A2ML1 Synonymous SNV V588V 0.368 0.372 0.354 146 432 143 0.374 104 89 24 15 23 Benign 11.69 10963 chr12 122734525 122734525 A G rs139224941 VPS33A Nonsynonymous SNV V212A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 11.9 10964 chr2 192250726 192250726 G A rs13018796 MYO1B Synonymous SNV E490E 0.952 0.945 0.925 370 1118 363 0.949 272 531 171 126 176 13.65 10965 chr12 9016456 9016456 C T rs73040625 A2ML1 Nonsynonymous SNV A699V 0.056 0.052 0.068 22 66 20 0.056 20 1 0 0 1 Benign 8.479 10966 chr12 113386779 113386779 C G rs2285933 OAS3 Nonsynonymous SNV S381R 0.255 0.286 0.252 84 299 110 0.215 74 35 13 9 11 0.312 10967 chr2 170029657 170029657 C T rs34355135 LRP2 Nonsynonymous SNV V3698M 0.027 0.023 0.014 6 32 9 0.015 4 0 0 0 0 Benign/Likely benign 13.06 10968 chr2 192279327 192279327 T C rs2271767 MYO1B Synonymous SNV L973L 0.95 0.943 0.922 371 1115 362 0.951 271 528 170 125 177 9.439 10969 chr12 9016573 9016573 A G rs10219561 A2ML1 Nonsynonymous SNV H738R 0.997 1 0.99 389 1171 384 0.997 291 584 192 144 194 6.517 10970 chr12 121678298 121678298 G A rs143403727 CAMKK2 Synonymous SNV A548A 0.05 0.055 0.051 17 59 21 0.044 15 2 0 0 0 16.36 10971 chr2 192701393 192701393 A G rs10167187 CAVIN2 Synonymous SNV G178G 0.634 0.646 0.622 244 744 248 0.626 183 231 80 57 73 0.056 10972 chr12 121701681 121701681 G A rs2230776 CAMKK2 Synonymous SNV P229P 0.08 0.081 0.048 29 94 31 0.074 14 3 0 2 0 10.38 10973 chr12 131357422 131357422 C T rs116832702 RAN Synonymous SNV F26F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.09 10974 chr2 170099473 170099473 T C rs831042 LRP2 Synonymous SNV A1220A 0.485 0.526 0.51 230 569 202 0.59 150 136 56 36 72 Benign 10.6 10975 chr12 9020489 9020489 A G rs7308811 A2ML1 Nonsynonymous SNV M766V 0.889 0.898 0.864 351 1044 345 0.9 254 461 155 108 157 Benign 0.002 10976 chr2 196673533 196673533 A G rs13411834 DNAH7 Nonsynonymous SNV L3319P 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 Benign 17.26 10977 chr12 13136615 13136615 C G rs759601 GPRC5D-AS1 0.258 0.271 0.276 97 303 104 0.249 81 41 17 15 6 4.629 10978 chr2 170103336 170103336 T C rs831043 LRP2 Synonymous SNV T1023T 0.492 0.552 0.537 235 578 212 0.603 158 141 59 39 75 Benign 0.126 10979 chr12 12303899 12303899 G A rs34143723 LRP6 Synonymous SNV P955P 0.021 0.036 0.02 2 25 14 0.005 6 0 0 0 0 13.42 10980 chr12 9020912 9020912 A G rs1476910 A2ML1 Synonymous SNV Q849Q 0.868 0.867 0.82 337 1019 333 0.864 241 439 145 100 144 Benign 10.17 10981 chr2 196749504 196749504 G A rs60214909 DNAH7 Synonymous SNV S1856S 0.141 0.146 0.126 59 165 56 0.151 37 10 1 2 2 16.12 10982 chr2 170103351 170103351 G T rs2075249 LRP2 Synonymous SNV T1018T 0.463 0.497 0.5 209 544 191 0.536 147 127 52 38 58 Benign 0.593 10983 chr12 13136729 13136729 G T rs2052329 GPRC5D-AS1 0.257 0.268 0.276 96 302 103 0.246 81 41 17 15 5 5.733 10984 chr12 123082425 123082425 G A KNTC1 Nonsynonymous SNV M1501I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.66 10985 chr2 196791276 196791276 T G rs1489802 DNAH7 Synonymous SNV A1162A 0.592 0.555 0.531 209 695 213 0.536 156 204 49 43 50 Benign 1.091 10986 chr12 9070366 9070366 T A rs4883198 PHC1 Synonymous SNV L31L 0.734 0.753 0.789 303 862 289 0.777 232 319 108 89 116 7.193 10987 chr12 121712301 121712301 C T rs28360477 CAMKK2 Nonsynonymous SNV S10N 0.069 0.073 0.041 26 81 28 0.067 12 2 0 1 0 20.8 10988 chr2 170115588 170115588 T C rs2241190 LRP2 Synonymous SNV T820T 0.508 0.555 0.554 236 596 213 0.605 163 152 60 41 76 Benign 0.34 10989 chr12 120535169 120535169 G A rs61748076 RAB35 Synonymous SNV L121L 0.062 0.07 0.061 27 73 27 0.069 18 2 1 1 1 5.801 10990 chr12 9074259 9074259 C T rs1805741 PHC1 Synonymous SNV P123P 0.735 0.75 0.782 302 863 288 0.774 230 318 107 88 115 12.71 10991 chr2 196825402 196825402 T C rs6719500 DNAH7 Nonsynonymous SNV K825E 0.148 0.151 0.16 60 174 58 0.154 47 10 1 4 2 0.022 10992 chr12 9086553 9086553 G A rs1805773 PHC1 Synonymous SNV K662K 0.179 0.18 0.245 64 210 69 0.164 72 19 5 8 7 8.917 10993 chr12 109041188 109041188 T C rs201986662 CORO1C Nonsynonymous SNV I525M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.073 10994 chr2 170150671 170150671 G A rs2229266 LRP2 Synonymous SNV D213D 0.267 0.271 0.235 111 314 104 0.285 69 34 17 9 9 Benign 12.22 10995 chr2 196851911 196851911 G A rs10931715 DNAH7 Nonsynonymous SNV R545C 0.607 0.552 0.565 227 713 212 0.582 166 229 54 53 66 Benign 23.4 10996 chr12 9086931 9086931 G A rs144307674 PHC1 Nonsynonymous SNV A704T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 9.642 10997 chr12 113403684 113403684 C T rs2240188 OAS3 Synonymous SNV L847L 0.257 0.279 0.252 86 302 107 0.221 74 36 12 9 11 2.864 10998 chr12 123470586 123470586 C T rs12828755 PITPNM2 Synonymous SNV A1340A 0.236 0.253 0.017 93 277 97 0.238 5 34 11 1 8 5.775 10999 chr2 196866420 196866420 C T rs6434811 DNAH7 Synonymous SNV T384T 0.909 0.927 0.912 347 1067 356 0.89 268 501 166 122 161 Benign 14.8 11000 chr12 123471094 123471094 G A rs12811109 PITPNM2 Synonymous SNV H1199H 0.237 0.253 0.235 93 278 97 0.238 69 34 11 6 8 4.564 11001 chr12 9090528 9090528 G A rs1049948 PHC1 Nonsynonymous SNV R911H 0.092 0.104 0.15 42 108 40 0.108 44 8 4 1 4 25.7 11002 chr2 197004439 197004439 A G rs1054537 STK17B Synonymous SNV I247I 0.611 0.557 0.544 201 717 214 0.515 160 215 50 44 48 11.03 11003 chr2 197021276 197021276 T C rs10931726 STK17B Synonymous SNV R74R 0.582 0.539 0.531 194 683 207 0.497 156 200 47 42 44 6.713 11004 chr12 91366649 91366649 G C rs17784152 EPYC Nonsynonymous SNV S150C 0.018 0.016 0.024 10 21 6 0.026 7 0 0 0 0 26.8 11005 chr12 105591569 105591569 G A rs12303948 APPL2 Synonymous SNV F348F 0.05 0.068 0.068 24 59 26 0.062 20 0 2 0 1 11.08 11006 chr2 197021372 197021372 T A rs12478353 STK17B Synonymous SNV G42G 0.589 0.549 0.541 195 692 211 0.5 159 203 49 43 46 8.398 11007 chr2 197118729 197118729 C T rs4850690 HECW2 Synonymous SNV S792S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 14.74 11008 chr2 171070912 171070912 T C rs13385825 MYO3B Synonymous SNV T115T 0.371 0.367 0.418 150 436 141 0.385 123 95 29 23 23 7.097 11009 chr12 91449990 91449990 C T rs2735333 KERA Synonymous SNV V23V 0.786 0.789 0.741 292 923 303 0.749 218 363 118 83 112 7.884 11010 chr12 120901765 120901765 G A rs145299974 SRSF9 Synonymous SNV F170F 0.017 0.01 0.003 9 20 4 0.023 1 0 0 0 0 10.22 11011 chr2 197172742 197172742 C T rs61752161 HECW2 Synonymous SNV T478T 0.048 0.036 0.024 13 56 14 0.033 7 1 0 0 1 21.3 11012 chr12 9161648 9161648 T C rs3026251 KLRG1 Synonymous SNV D145D 0.26 0.247 0.241 105 305 95 0.269 71 42 10 8 18 0.624 11013 chr12 123806219 123806219 C T rs1060105 SBNO1 Nonsynonymous SNV S729N 0.234 0.253 0.238 92 275 97 0.236 70 33 9 7 8 22.2 11014 chr2 171073887 171073887 G A rs2161916 MYO3B Synonymous SNV P195P 0.497 0.492 0.575 201 583 189 0.515 169 158 47 43 45 13.6 11015 chr12 9243017 9243017 G A rs55761427 A2M Nonsynonymous SNV A694V 0.024 0.026 0.02 7 28 10 0.018 6 1 0 0 0 0.377 11016 chr2 197184321 197184321 C T rs1531111 HECW2 Synonymous SNV P75P 0.717 0.677 0.735 292 842 260 0.749 216 300 88 79 109 3.062 11017 chr2 198257795 198257795 T C rs4685 SF3B1 Synonymous SNV V1219V 0.78 0.802 0.789 318 916 308 0.815 232 353 119 96 132 12.62 11018 chr12 9248233 9248233 T C rs226405 A2M Nonsynonymous SNV N489D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 11019 chr12 123825559 123825559 C T rs12322888 SBNO1 Synonymous SNV K209K 0.242 0.253 0.231 96 284 97 0.246 68 38 10 9 8 15.39 11020 chr12 132335477 132335477 C G rs7975920 MMP17 Synonymous SNV S490S 0.008 0.005 0.014 4 9 2 0.01 4 0 0 1 0 11.85 11021 chr2 198265526 198265526 A G rs788018 SF3B1 Synonymous SNV G877G 0.78 0.799 0.755 317 916 307 0.813 222 352 118 94 131 7.009 11022 chr2 171242761 171242761 G A rs17497636 MYO3B Synonymous SNV Q451Q 0.151 0.18 0.139 65 177 69 0.167 41 11 4 3 6 9.562 11023 chr12 9305473 9305473 T C rs10771357 PZP Synonymous SNV Q1356Q 0.647 0.667 0.582 262 759 256 0.672 171 239 82 51 85 1.108 11024 chr2 198283305 198283305 T C rs788023 SF3B1 Synonymous SNV K141K 0.78 0.799 0.776 317 916 307 0.813 228 352 120 94 131 0.041 11025 chr12 9307373 9307373 T G rs2377741 PZP Nonsynonymous SNV T1205P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.214 11026 chr12 124017850 124017850 G C rs28492040 RILPL1 Synonymous SNV V60V 0.268 0.292 0.289 97 315 112 0.249 85 37 15 12 15 9.237 11027 chr12 132402020 132402020 T C rs4964918 ULK1 Synonymous SNV P749P 0.625 0.656 0.544 263 734 252 0.674 160 236 91 51 91 0.154 11028 chr2 198362018 198362018 T C rs8539 HSPD1 Synonymous SNV K91K 0.779 0.799 0.772 317 915 307 0.813 227 352 118 93 131 Benign 3.547 11029 chr12 9312951 9312951 G A rs57006764 PZP Nonsynonymous SNV T1003M 0.234 0.245 0.204 89 275 94 0.228 60 32 11 7 13 24 11030 chr12 122255556 122255556 G A SETD1B Synonymous SNV E1086E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.636 11031 chr2 198508951 198508951 G A rs10497806 RFTN2 Synonymous SNV L123L 0.779 0.805 0.779 323 915 309 0.828 229 354 122 94 136 15.02 11032 chr2 198540174 198540174 G A rs149152537 RFTN2 Synonymous SNV C3C 0 0 0 0 0 0 0 0 0 0 0 0 12.14 11033 chr12 93147907 93147907 A T rs9669519 PLEKHG7 Synonymous SNV P119P 0.586 0.591 0.616 225 688 227 0.577 181 202 65 53 63 0.052 11034 chr12 132405879 132405879 G A rs11546872 ULK1 Synonymous SNV S1042S 0.005 0.01 0.01 3 6 4 0.008 3 0 0 1 0 13.36 11035 chr2 198949344 198949344 A G rs113185553 PLCL1 Nonsynonymous SNV Q368R 0.028 0.021 0.031 15 33 8 0.038 9 0 0 0 0 7.296 11036 chr12 93150102 93150102 T C rs924326 PLEKHG7 Nonsynonymous SNV M212T 0.589 0.594 0.616 229 691 228 0.587 181 205 65 54 67 0.002 11037 chr12 132416813 132416813 G A rs76655496 PUS1 Nonsynonymous SNV D105N 0.005 0.005 0.007 3 6 2 0.008 2 0 0 1 0 Benign/Likely benign 23.2 11038 chr12 117175608 117175608 C T rs73220422 C12orf49 Nonsynonymous SNV S33N 0.064 0.06 0.014 10 75 23 0.026 4 4 0 0 1 24.6 11039 chr12 9315209 9315209 A G rs10771381 PZP Synonymous SNV S924S 0.375 0.385 0.34 161 440 148 0.413 100 83 26 14 33 0.243 11040 chr2 198950240 198950240 G A rs1064213 PLCL1 Nonsynonymous SNV V667I 0.612 0.617 0.551 246 718 237 0.631 162 219 71 48 84 26.1 11041 chr2 171573185 171573185 G T rs1134626 SP5 Synonymous SNV P156P 0.319 0.318 0.316 120 374 122 0.308 93 53 18 13 14 0.948 11042 chr12 9316773 9316773 T C rs3213831 PZP Nonsynonymous SNV N857S 0.376 0.385 0.347 161 441 148 0.413 102 84 26 15 33 18.56 11043 chr12 132490820 132490820 G A rs117463303 EP400 Synonymous SNV P1033P 0.005 0.005 0.007 4 6 2 0.01 2 0 0 1 0 14.73 11044 chr12 109889538 109889538 G A rs775672360 KCTD10 Synonymous SNV D269D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.603 11045 chr2 200684249 200684249 - A rs761406357 FTCDNL1 *148delinsLNLRSPL* 0.105 0.125 0.18 39 123 48 0.1 53 4 2 0 2 11046 chr12 132491322 132491322 A G rs117739120 EP400 Synonymous SNV K1068K 0.005 0.005 0.007 4 6 2 0.01 2 0 0 1 0 0.027 11047 chr12 9317784 9317784 A G rs2277413 PZP Nonsynonymous SNV V813A 0.384 0.385 0.408 133 451 148 0.341 120 88 32 25 27 0.002 11048 chr2 200776353 200776353 T G rs62178345 C2orf69 Nonsynonymous SNV D64E 0.237 0.281 0.224 111 278 108 0.285 66 31 16 6 21 4.942 11049 chr12 111800849 111800849 G A rs201849141 PHETA1 Nonsynonymous SNV A128V 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 26.3 11050 chr12 117349014 117349014 C G rs11068230 FBXW8 Nonsynonymous SNV R58G 0.491 0.451 0.432 169 576 173 0.433 127 280 83 60 82 3.613 11051 chr12 9317885 9317885 G A rs2277412 PZP Synonymous SNV S779S 0.364 0.38 0.33 158 427 146 0.405 97 78 27 14 33 Benign 4.791 11052 chr12 132527986 132527986 G A rs117982214 EP400 Synonymous SNV E2115E 0.005 0.005 0.007 4 6 2 0.01 2 0 0 1 0 3.236 11053 chr2 200790216 200790216 C T rs12476690 C2orf69 Synonymous SNV D255D 0.055 0.052 0.061 20 65 20 0.051 18 1 0 1 0 9.023 11054 chr12 93202801 93202801 C T rs7970286 EEA1 Synonymous SNV E777E 0.415 0.451 0.439 149 487 173 0.382 129 107 37 29 26 13.52 11055 chr12 132547068 132547068 - GCA rs367737531 EP400 Q2748_T2749insQ 0.133 0.146 0.095 71 156 56 0.182 28 6 2 0 5 11056 chr2 172411273 172411273 G A rs10455 CYBRD1 Nonsynonymous SNV S208N 0.552 0.513 0.65 230 648 197 0.59 191 184 49 65 61 0.131 11057 chr2 200813126 200813126 T C rs10497844 TYW5 Nonsynonymous SNV S50G 0.055 0.049 0.061 20 64 19 0.051 18 1 0 1 0 11.77 11058 chr12 9345273 9345273 A G rs10771407 PZP Synonymous SNV G439G 0.922 0.922 0.878 357 1083 354 0.915 258 501 164 112 163 0.015 11059 chr12 132547093 132547093 - CAG rs60608267 EP400 Q2748_T2749insQ 0.323 0.31 0.265 121 379 119 0.31 78 60 20 7 16 11060 chr12 132549335 132549335 G A rs150961883 EP400 Synonymous SNV P2819P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 11.53 11061 chr12 9346792 9346792 G C rs12230214 PZP Nonsynonymous SNV L379V 0.321 0.313 0.299 120 377 120 0.308 88 63 19 14 17 0.014 11062 chr2 172650245 172650245 T G rs149278617 SLC25A12 Synonymous SNV P446P 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.013 11063 chr12 132561987 132561987 C T rs12311898 EP400 Synonymous SNV A3047A 0.061 0.07 0.078 30 72 27 0.077 23 3 1 1 1 13.4 11064 chr2 200820554 200820554 C T rs201435155 MAIP1 Synonymous SNV F11F 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 10.16 11065 chr12 93609407 93609407 G C rs768803186 LOC643339 0 0 0.003 0 0 0 0 1 0 0 0 0 2.08 11066 chr12 124281322 124281322 T C rs76791219 DNAH10 Synonymous SNV H584H 0.118 0.135 0.126 62 139 52 0.159 37 6 5 3 8 0.019 11067 chr2 172966250 172966250 T C rs2228184 DLX2 Synonymous SNV Q175Q 0.333 0.346 0.391 133 391 133 0.341 115 68 30 22 25 3.508 11068 chr12 93771224 93771224 T C rs35443572 LOC643339 0 0 0.119 0 0 0 0 35 0 0 3 0 6.759 11069 chr2 201253956 201253956 A G rs842823 SPATS2L Nonsynonymous SNV T27A 0.334 0.307 0.238 138 392 118 0.354 70 66 17 9 23 17.41 11070 chr12 124288212 124288212 C T rs80041527 DNAH10 Synonymous SNV I755I 0.056 0.086 0.071 37 66 33 0.095 21 2 1 0 3 11.4 11071 chr12 939302 939302 A G rs10774466 WNK1 Synonymous SNV A429A 0.698 0.667 0.677 258 820 256 0.662 199 285 79 68 87 Benign 3.334 11072 chr12 132626668 132626668 T C rs1133690 DDX51 Nonsynonymous SNV Q295R 0.669 0.659 0.687 275 785 253 0.705 202 269 77 69 95 25.6 11073 chr12 121458400 121458400 C T rs12819210 OASL Synonymous SNV S373S 0.124 0.133 0.126 56 146 51 0.144 37 5 5 1 1 8.269 11074 chr12 124288264 124288264 G A rs77491573 DNAH10 Nonsynonymous SNV V773I 0.055 0.089 0.068 37 64 34 0.095 20 1 1 0 3 13.59 11075 chr12 94072653 94072653 A G rs52807869 CRADD Nonsynonymous SNV I35V 0.016 0.023 0.017 8 19 9 0.021 5 0 0 0 0 9.577 11076 chr2 201354935 201354935 C G rs3795969 KCTD18 Nonsynonymous SNV C390S 0.453 0.456 0.378 156 532 175 0.4 111 108 34 15 39 0.004 11077 chr12 132633436 132633523 CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC - NOC4L D299Efs*25 0.081 0.065 0.071 30 95 25 0.077 21 6 1 7 3 11078 chr12 94642023 94642023 C T rs2230756 PLXNC1 Synonymous SNV N871N 0.078 0.068 0.065 29 92 26 0.074 19 3 1 0 0 13.84 11079 chr12 107937768 107937768 G A rs1558781 BTBD11 Nonsynonymous SNV G448S 0.157 0.177 0.163 73 184 68 0.187 48 19 5 3 4 21.8 11080 chr2 201437334 201437334 T C rs12052989 SGO2 Synonymous SNV P755P 0.794 0.802 0.789 315 932 308 0.808 232 368 122 95 124 0.153 11081 chr2 173916410 173916410 G A rs201906810 RAPGEF4 Nonsynonymous SNV R764Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.2 11082 chr12 94645255 94645255 A G rs2230757 PLXNC1 Synonymous SNV T944T 0.551 0.563 0.503 220 647 216 0.564 148 198 59 39 62 6.365 11083 chr2 201526330 201526330 A G rs55754655 AOX1 Nonsynonymous SNV N1135S 0.14 0.154 0.119 55 164 59 0.141 35 10 6 3 1 1.889 11084 chr12 94965058 94965058 G C rs1290910 MIR7844 0 0 0.612 0 0 0 0 180 0 0 52 0 1.249 11085 chr12 10854625 10854625 G A rs10845205 YBX3 Synonymous SNV Y260Y 0.103 0.083 0.044 38 121 32 0.097 13 8 0 0 3 8.984 11086 chr12 94972290 94972290 C T rs2270893 TMCC3 Synonymous SNV E306E 0.555 0.586 0.483 204 651 225 0.523 142 168 67 40 50 14.23 11087 chr12 94975799 94975799 G A rs3747553 TMCC3 Synonymous SNV F167F 0.573 0.617 0.5 201 673 237 0.515 147 185 75 41 48 7.998 11088 chr2 201736166 201736166 A C rs7562391 PPIL3 Nonsynonymous SNV D150E 0.145 0.122 0.16 63 170 47 0.162 47 11 1 3 6 8.857 11089 chr12 122657271 122657271 G C rs7974857 IL31 Synonymous SNV G61G 0.12 0.109 0.095 40 141 42 0.103 28 8 2 3 3 3.311 11090 chr12 94976084 94976084 T C rs3747552 TMCC3 Synonymous SNV A72A 0.581 0.625 0.5 204 682 240 0.523 147 192 77 41 49 0.233 11091 chr2 174097106 174097106 A G rs16861406 MAP3K20 Synonymous SNV T374T 0.113 0.107 0.109 50 133 41 0.128 32 11 2 2 3 6.384 11092 chr12 94976159 94976159 T C rs3747551 TMCC3 Synonymous SNV V47V 0.415 0.448 0.313 152 487 172 0.39 92 105 37 13 21 2.187 11093 chr2 201768238 201768238 C T rs7917 NIF3L1 Nonsynonymous SNV L278F 0.256 0.219 0.259 112 301 84 0.287 76 37 7 11 17 23 11094 chr2 174128595 174128595 T C rs16861466 MAP3K20 Synonymous SNV D558D 0.091 0.068 0.054 36 107 26 0.092 16 8 1 0 2 2.631 11095 chr12 95044161 95044161 A C rs1274523 TMCC3 Nonsynonymous SNV Y16D 0.975 0.958 0.901 389 1145 368 0.997 265 567 183 131 194 15.63 11096 chr2 175200903 175200903 G C rs35548534 SP9 Synonymous SNV T30T 0.275 0.258 0.241 127 323 99 0.326 71 44 14 7 18 16.92 11097 chr2 201785837 201785837 G A rs2307362 ORC2 Synonymous SNV L391L 0.183 0.167 0.201 73 215 64 0.187 59 21 4 5 6 12.68 11098 chr2 175263063 175263063 G A rs10497410 SCRN3 Nonsynonymous SNV D18N 0.194 0.198 0.19 99 228 76 0.254 56 28 8 3 10 17.17 11099 chr12 95681554 95681554 C T rs12424550 VEZT Synonymous SNV H337H 0.121 0.154 0.112 46 142 59 0.118 33 9 2 3 4 14.99 11100 chr12 133159662 133159662 G A rs12831275 FBRSL1 Synonymous SNV R812R 0.134 0.099 0.017 42 157 38 0.108 5 22 2 1 5 10.18 11101 chr12 110841379 110841379 G A rs75347070 ANAPC7 Synonymous SNV N52N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.65 11102 chr2 202006096 202006096 G A rs10190751 CFLAR 0.208 0.195 0.211 105 244 75 0.269 62 24 3 8 16 0.383 11103 chr12 96077312 96077312 C T rs17851048 NTN4 Synonymous SNV A452A 0.295 0.286 0.248 123 346 110 0.315 73 52 10 6 17 12.66 11104 chr12 12284915 12284915 G A rs1012672 LRP6 Synonymous SNV C1270C 0.089 0.044 0.044 38 105 17 0.097 13 5 1 0 1 7.603 11105 chr12 133159733 133159733 C T rs11550079 FBRSL1 Nonsynonymous SNV A836V 0.389 0.404 0.167 160 457 155 0.41 49 97 25 19 32 16.35 11106 chr2 175292581 175292593 TCAAATTTATCAG - rs145699077 SCRN3 N410Kfs*11 0.453 0.417 0.449 157 532 160 0.403 132 121 37 37 29 11107 chr2 202025621 202025621 A G rs1594 CFLAR Synonymous SNV P175P 0.503 0.474 0.449 196 590 182 0.503 132 152 41 25 54 0.473 11108 chr12 96131895 96131895 A G rs17288108 NTN4 Nonsynonymous SNV Y205H 0.17 0.156 0.126 51 199 60 0.131 37 10 5 0 5 8.038 11109 chr2 175300997 175300997 G A rs6757461 GPR155 Synonymous SNV N792N 0.454 0.417 0.497 156 533 160 0.4 146 122 37 39 29 12.26 11110 chr2 202050677 202050677 A G rs3900115 CASP10 Synonymous SNV S59S 0.495 0.487 0.459 187 581 187 0.479 135 145 44 25 50 Benign 0.079 11111 chr12 111099063 111099063 G C rs549678316 HVCN1 Nonsynonymous SNV A51G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 11112 chr12 96284650 96284650 A G rs6538681 CCDC38 Synonymous SNV A277A 0.633 0.617 0.687 235 743 237 0.603 202 239 72 71 75 0.034 11113 chr12 96292170 96292170 C G rs75959092 CCDC38 Nonsynonymous SNV V203L 0.125 0.122 0.119 37 147 47 0.095 35 6 1 4 3 6.058 11114 chr12 122092181 122092181 C T rs11043312 MORN3 Synonymous SNV L154L 0.046 0.044 0 15 54 17 0.038 0 1 0 0 1 11.98 11115 chr2 202082459 202082459 T A rs13006529 CASP10 Nonsynonymous SNV L455I 0.446 0.453 0.415 154 524 174 0.395 122 119 38 22 34 Benign 22 11116 chr12 96312686 96312686 C A rs12368787 CCDC38 Nonsynonymous SNV V36F 0.124 0.122 0.092 37 146 47 0.095 27 6 1 4 3 14.65 11117 chr12 123346047 123346047 A C rs138068677 HIP1R Synonymous SNV R1049R 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 Benign 0.145 11118 chr2 202122995 202122995 A G rs3769823 CASP8 Nonsynonymous SNV K14R 0.611 0.591 0.612 251 717 227 0.644 180 218 69 58 83 Benign 0.061 11119 chr2 176973807 176973807 G A rs138394594 HOXD11 Synonymous SNV R318R 0.009 0.005 0.007 3 10 2 0.008 2 0 0 0 0 Benign 10.22 11120 chr12 96337183 96337183 A G rs7955450 AMDHD1 Nonsynonymous SNV S3G 0.482 0.497 0.398 215 566 191 0.551 117 209 69 42 76 0.002 11121 chr2 176988290 176988290 - GCA rs397814627 HOXD9 Q269_L270insQ 0.32 0.323 0.276 123 376 124 0.315 81 55 23 12 21 11122 chr2 202215492 202215492 C G rs13014235 FLACC1 Nonsynonymous SNV V43L 0.553 0.521 0.534 230 649 200 0.59 157 190 50 46 74 0.01 11123 chr12 96374614 96374614 C T rs7297245 HAL Nonsynonymous SNV V231I 0.853 0.846 0.833 311 1001 325 0.797 245 426 135 101 123 Benign 5.976 11124 chr2 178565913 178565913 T C rs17400325 PDE11A Nonsynonymous SNV Y283C 0.056 0.07 0.034 34 66 27 0.087 10 1 0 0 0 27.4 11125 chr12 120616696 120616696 C T rs767733421 GCN1 Nonsynonymous SNV V162M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 11126 chr2 202252539 202252539 G A rs2244438 TRAK2 Nonsynonymous SNV T528I 0.332 0.349 0.316 108 390 134 0.277 93 66 22 18 22 17.17 11127 chr12 124887058 124887058 - GCTGCTGCTGCT NCOR2 Q509_P510insQQQQ 0.059 0.057 0.007 13 69 22 0.033 2 1 0 0 0 11128 chr12 12496086 12496086 C T rs3741798 MANSC1 Nonsynonymous SNV V55I 0.075 0.083 0.099 29 88 32 0.074 29 4 2 2 1 0.01 11129 chr12 96641016 96641016 C T rs35332676 ELK3 Nonsynonymous SNV P169L 0.045 0.039 0.054 25 53 15 0.064 16 1 0 0 0 2.241 11130 chr2 178682603 178682603 T C rs6720891 PDE11A Synonymous SNV A98A 0.406 0.422 0.327 182 477 162 0.467 96 96 32 19 47 0.327 11131 chr12 133264332 133264332 C T rs11538534 PXMP2 Synonymous SNV L26L 0.104 0.143 0.007 42 122 55 0.108 2 51 24 1 16 9.926 11132 chr2 202260049 202260049 G A rs2256584 TRAK2 Synonymous SNV H296H 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 5.583 11133 chr2 202264156 202264156 C T rs13022344 TRAK2 Nonsynonymous SNV V142I 0.631 0.594 0.633 264 741 228 0.677 186 232 68 62 94 18.98 11134 chr12 124979789 124979789 T G rs872225 NCOR2 Synonymous SNV G3G 0.183 0.19 0.19 68 215 73 0.174 56 13 6 7 7 9.592 11135 chr12 96992494 96992494 C T rs815890 CFAP54 Synonymous SNV S1196S 0.702 0.711 0.66 260 824 273 0.667 194 297 98 64 87 6.926 11136 chr12 97020673 97020673 T C rs10507074 CFAP54 Synonymous SNV H1353H 0.547 0.534 0.446 202 642 205 0.518 131 182 48 28 52 0.009 11137 chr2 202337730 202337730 A G rs1019299 STRADB Synonymous SNV T82T 0.638 0.628 0.605 264 749 241 0.677 178 239 76 61 96 0.31 11138 chr12 97023937 97023937 A C rs9919717 CFAP54 Synonymous SNV A1390A 0.477 0.464 0.398 174 560 178 0.446 117 168 47 21 43 0.035 11139 chr12 124104551 124104551 A G rs10773019 DDX55 Nonsynonymous SNV N556S 0.026 0.031 0.044 8 31 12 0.021 13 1 0 0 0 9.947 11140 chr2 202342402 202342402 G T rs12990557 STRADB Synonymous SNV L203L 0.536 0.516 0.541 225 629 198 0.577 159 170 52 41 71 2.157 11141 chr12 97102578 97102578 G A rs7968231 CFAP54 Nonsynonymous SNV E2241K 0.769 0.773 0.721 296 903 297 0.759 212 379 131 82 124 11.95 11142 chr2 202352480 202352480 G A rs72939119 C2CD6 Nonsynonymous SNV P576L 0.014 0.013 0.024 1 16 5 0.003 7 0 0 0 0 26 11143 chr2 179410282 179410282 A G rs62621206 TTN Nonsynonymous SNV L22787P 0.027 0.021 0.014 15 32 8 0.038 4 3 0 0 0 Benign/Likely benign 19.09 11144 chr12 10954258 10954258 C T rs619381 TAS2R7 Nonsynonymous SNV M304I 0.133 0.099 0.153 41 156 38 0.105 45 10 3 6 2 14.34 11145 chr12 97114231 97114231 G A rs10860073 CFAP54 Nonsynonymous SNV E2285K 0.036 0.036 0.054 20 42 14 0.051 16 2 0 0 1 21.6 11146 chr2 202357949 202357949 A C rs2714482 C2CD6 Nonsynonymous SNV C1039G 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 0.001 11147 chr12 133357412 133357412 T C rs2291260 GOLGA3 Nonsynonymous SNV K1185R 0.293 0.307 0.34 105 344 118 0.269 100 48 23 18 14 12.84 11148 chr12 97133737 97133737 T G rs17326839 CFAP54 Synonymous SNV A2323A 0.127 0.12 0.187 46 149 46 0.118 55 18 7 9 6 9.989 11149 chr2 202410300 202410300 A T rs10804117 C2CD6 Nonsynonymous SNV H376Q 0.214 0.159 0.037 60 251 61 0.154 11 85 18 5 20 0.001 11150 chr12 97136218 97136218 T C rs7978894 CFAP54 Nonsynonymous SNV V2358A 0.216 0.203 0.221 87 254 78 0.223 65 30 11 10 8 0.002 11151 chr2 179482937 179482937 C T rs72677232 TTN Nonsynonymous SNV V6685I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 11152 chr12 133363006 133363006 G A rs12823938 GOLGA3 Synonymous SNV L1014L 0.375 0.362 0.378 122 440 139 0.313 111 85 28 24 21 9.3 11153 chr12 97136239 97136239 G A rs1990828 CFAP54 Nonsynonymous SNV S2365N 0.798 0.818 0.707 309 937 314 0.792 208 373 131 78 125 4.606 11154 chr2 202469361 202469361 C T rs12474206 C2CD6 Synonymous SNV T97T 0.995 0.995 0.976 389 1168 382 0.997 287 581 190 143 194 11.76 11155 chr12 133384594 133384594 G A rs151057597 GOLGA3 Nonsynonymous SNV T354I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 18.96 11156 chr2 179549407 179549407 G A rs72650031 TTN Nonsynonymous SNV P9631L 0.01 0.005 0.017 7 12 2 0.018 5 0 0 0 0 Conflicting interpretations of pathogenicity 20.1 11157 chr2 202557702 202557702 C T rs6725443 MPP4 Nonsynonymous SNV G44S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 14.06 11158 chr12 97254620 97254620 G A rs1420653 CFAP54 Synonymous SNV P3065P 0.738 0.747 0.677 295 866 287 0.756 199 319 107 69 115 8.508 11159 chr12 974326 974326 G C rs11611231 WNK1 Nonsynonymous SNV L730F 0.07 0.096 0.082 37 82 37 0.095 24 2 1 0 3 Benign 15.63 11160 chr2 179582853 179582853 T C rs72648982 TTN Nonsynonymous SNV R7050G 0.043 0.057 0.037 26 50 22 0.067 11 4 0 0 0 Benign/Likely benign 13.38 11161 chr2 202575821 202575821 G A rs3219168 ALS2 Synonymous SNV L1339L 0.877 0.893 0.908 352 1030 343 0.903 267 454 154 120 160 Benign 10.37 11162 chr12 974355 974355 - C rs11441897 WNK1 Frameshift insertion F741Lfs*30 0.657 0.612 0.551 230 771 235 0.59 162 259 72 42 69 11163 chr12 125478381 125478381 - CTG rs546819378 BRI3BP L25_G26insL 0.06 0.065 0.245 32 71 25 0.082 72 23 9 14 12 11164 chr2 202598113 202598113 C T rs2276615 ALS2 Synonymous SNV V822V 0.545 0.576 0.599 220 640 221 0.564 176 182 61 54 59 Benign 13.06 11165 chr12 974404 974404 T C rs7300829 WNK1 Synonymous SNV P756P 0.511 0.518 0.537 201 600 199 0.515 158 153 51 42 43 17.51 11166 chr12 9822387 9822387 C G rs16914640 CLEC2D Nonsynonymous SNV N19K 0.17 0.133 0.139 63 199 51 0.162 41 15 6 2 8 17.97 11167 chr12 121442241 121442241 C T rs73214128 C12orf43 Synonymous SNV A136A 0.09 0.057 0.092 41 106 22 0.105 27 5 1 3 4 15.1 11168 chr2 179590329 179590329 C T rs17355460 TTN Nonsynonymous SNV G5624R 0.026 0.021 0.017 14 31 8 0.036 5 3 0 0 0 Benign/Likely benign 22.5 11169 chr2 202625615 202625615 C T rs3219156 ALS2 Nonsynonymous SNV V368M 0.878 0.896 0.901 345 1031 344 0.885 265 455 152 119 152 Benign 0.027 11170 chr12 111993712 111993712 C T rs7969300 ATXN2 Nonsynonymous SNV S88N 0.005 0.008 0.017 5 6 3 0.013 5 0 0 0 0 18.04 11171 chr12 121442883 121442883 G A rs11537856 C12orf43 Synonymous SNV F92F 0.066 0.044 0.085 35 77 17 0.09 25 5 1 3 3 13.84 11172 chr12 987482 987482 G A rs1012729 WNK1 Synonymous SNV Q775Q 0.703 0.682 0.656 253 825 262 0.649 193 290 83 64 82 Benign 4.218 11173 chr2 202939654 202939654 T C rs10221698 KIAA2012 Nonsynonymous SNV V42A 0.479 0.479 0.469 166 562 184 0.426 138 135 44 33 35 0.005 11174 chr12 990912 990912 A C rs956868 WNK1 Nonsynonymous SNV T809P 0.779 0.823 0.847 313 914 316 0.803 249 362 130 107 124 Benign 0.062 11175 chr12 121454148 121454148 C T rs11537857 C12orf43 Nonsynonymous SNV G44R 0.089 0.052 0.092 41 105 20 0.105 27 5 1 3 4 10.48 11176 chr2 179612883 179612883 A G rs139669372 TTN Synonymous SNV L4748L 0.013 0.01 0 7 15 4 0.018 0 1 0 0 0 Benign 5.579 11177 chr12 113565637 113565637 G A rs146551951 RASAL1 Nonsynonymous SNV A93V 0.016 0.018 0.01 6 19 7 0.015 3 0 0 0 0 Benign 10.29 11178 chr2 202964380 202964380 G A rs2882486 KIAA2012 Synonymous SNV E291E 0.44 0.419 0.439 156 516 161 0.4 129 114 38 31 28 3.794 11179 chr12 124333351 124333351 T C rs34376881 DNAH10 Synonymous SNV D1890D 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Benign 0.074 11180 chr12 12871099 12871099 T G rs2066827 CDKN1B Nonsynonymous SNV V109G 0.341 0.341 0.333 128 400 131 0.328 98 60 21 19 21 Benign 11.36 11181 chr12 133732624 133732624 C T rs3763151 ZNF10 Synonymous SNV P264P 0.267 0.253 0.269 114 314 97 0.292 79 47 12 13 10 10.57 11182 chr12 112191641 112191641 G A rs2074055 ACAD10 Synonymous SNV A961A 0.005 0.008 0.02 5 6 3 0.013 6 0 0 0 0 10.12 11183 chr12 993930 993930 C T rs7300444 WNK1 Synonymous SNV N1073N 0.318 0.339 0.35 122 373 130 0.313 103 61 23 16 21 Benign 4.253 11184 chr2 203067177 203067177 T C rs4673235 KIAA2012 Nonsynonymous SNV F1145L 0.997 0.995 0 388 1170 382 0.995 0 583 190 0 193 9.213 11185 chr12 112280746 112280749 GTGG - rs138881887 MAPKAPK5-AS1 0.003 0.005 0.017 2 4 2 0.005 5 0 0 0 0 11186 chr12 133778796 133778796 C T rs7975069 ZNF268 Nonsynonymous SNV R34W 0.275 0.26 0.276 124 323 100 0.318 81 49 12 14 12 0.279 11187 chr2 203072693 203072693 A G rs55694983 SUMO1 Synonymous SNV L90L 0.089 0.112 0.017 33 104 43 0.085 5 8 3 2 4 7.614 11188 chr12 994487 994487 G C rs7955371 WNK1 Nonsynonymous SNV C1259S 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 Benign 0.002 11189 chr12 112460147 112460147 T G rs10774648 ERP29 Synonymous SNV P159P 0.007 0.008 0.017 2 8 3 0.005 5 0 0 0 0 0.009 11190 chr2 203653587 203653587 A T rs142998309 ICA1L Nonsynonymous SNV F403L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.739 11191 chr12 99640557 99640557 T C rs1552759 ANKS1B Synonymous SNV P614P 0.653 0.651 0.639 254 767 250 0.651 188 247 81 59 76 2.04 11192 chr12 112477055 112477055 T C rs12231744 NAA25 Nonsynonymous SNV K876R 0.005 0.008 0.017 2 6 3 0.005 5 0 0 0 0 22 11193 chr12 113573237 113573237 C G rs7960087 RASAL1 Nonsynonymous SNV V11L 0.037 0.039 0.027 17 43 15 0.044 8 0 0 0 0 17.88 11194 chr12 9994446 9994448 TGT - rs33911869 KLRF1 C76del 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 11195 chr2 204009437 204009437 A G rs182529739 NBEAL1 Nonsynonymous SNV I1626V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.311 11196 chr13 100425074 100425074 G T rs74694961 LOC101927437 0.035 0.023 0.037 13 41 9 0.033 11 0 0 0 0 1.646 11197 chr12 12483318 12483318 C T rs3741801 MANSC1 Synonymous SNV S313S 0.106 0.115 0.085 46 125 44 0.118 25 8 6 1 1 11.69 11198 chr13 100518580 100518580 A G rs3783185 CLYBL Nonsynonymous SNV I241V 0.773 0.75 0.782 292 908 288 0.749 230 348 104 86 110 20.8 11199 chr2 204062061 204062061 A G rs4675323 NBEAL1 Nonsynonymous SNV I2330V 0.965 0.974 0.956 371 1133 374 0.951 281 551 182 135 177 7.323 11200 chr12 112703732 112703732 A C rs2301757 HECTD4 Synonymous SNV A816A 0.005 0.008 0.017 2 6 3 0.005 5 0 0 0 0 0.058 11201 chr12 13715975 13715975 A G rs1805247 GRIN2B Synonymous SNV H1399H 0.1 0.073 0.102 44 117 28 0.113 30 2 2 1 2 Benign 0.038 11202 chr13 100622667 100622667 - GGC rs772098205 ZIC5 P424_A425insP 0.005 0.003 0.048 2 6 1 0.005 14 0 0 1 0 11203 chr13 101287340 101287340 C T rs946837 TMTC4 Nonsynonymous SNV V308I 0.291 0.299 0.296 125 342 115 0.321 87 50 16 15 18 2.075 11204 chr12 13716638 13716638 G A rs1806191 GRIN2B Synonymous SNV H1178H 0.463 0.453 0.452 178 543 174 0.456 133 124 43 32 45 Benign 0.035 11205 chr2 204116690 204116690 C T rs2043449 CYP20A1 Nonsynonymous SNV S97L 0.967 0.974 0.956 372 1135 374 0.954 281 550 182 134 177 8.565 11206 chr12 14018777 14018777 G C rs7301328 GRIN2B Synonymous SNV P122P 0.38 0.375 0.367 142 446 144 0.364 108 75 23 22 23 Benign 1.119 11207 chr13 101287365 101287365 T C rs946838 TMTC4 Synonymous SNV A299A 0.848 0.831 0.878 332 995 319 0.851 258 418 134 113 139 0.093 11208 chr12 123738265 123738265 G A rs78651634 C12orf65 Nonsynonymous SNV R15Q 0.033 0.036 0.051 19 39 14 0.049 15 1 0 0 0 Benign 25 11209 chr2 204304214 204304214 G A rs2465520 RAPH1 Synonymous SNV P1233P 0.068 0.081 0.095 35 80 31 0.09 28 4 3 0 3 10.29 11210 chr12 14577892 14577892 A T rs2231909 ATF7IP Nonsynonymous SNV N348I 0.417 0.419 0.384 146 489 161 0.374 113 102 32 23 25 20.5 11211 chr13 101735211 101735211 G A rs17677552 NALCN Synonymous SNV T1209T 0.352 0.383 0.367 135 413 147 0.346 108 63 32 22 21 Benign 16.03 11212 chr12 124887058 124887058 - GCTGCTGCT rs35831183 NCOR2 Q509_P510insQQQ 0.014 0.034 0.003 8 17 13 0.021 1 1 0 0 0 11213 chr2 204305093 204305093 T C rs3814365 RAPH1 Synonymous SNV P940P 0.66 0.607 0.571 243 775 233 0.623 168 252 71 49 75 0.058 11214 chr13 101736075 101736075 A G rs686141 NALCN Synonymous SNV L1161L 0.712 0.724 0.704 265 836 278 0.679 207 296 101 69 94 Benign 4.182 11215 chr2 204322298 204322298 T C rs2469953 RAPH1 Synonymous SNV K371K 0.637 0.576 0.626 252 748 221 0.646 184 259 77 60 86 1.126 11216 chr13 102106276 102106276 G C rs2297700 ITGBL1 Synonymous SNV S47S 0.354 0.336 0.371 140 416 129 0.359 109 83 21 21 26 11.9 11217 chr12 14587301 14587301 A G rs3213764 ATF7IP Nonsynonymous SNV K529R 0.449 0.419 0.296 188 527 161 0.482 87 116 32 26 43 25.2 11218 chr13 103338721 103338721 T C rs138041652 METTL21C Nonsynonymous SNV N152S 0.008 0.003 0.01 1 9 1 0.003 3 0 0 0 0 25.1 11219 chr12 129360498 129360498 G A rs482401 GLT1D1 Synonymous SNV K36K 0.218 0.211 0.259 94 256 81 0.241 76 34 10 11 15 12.23 11220 chr2 205829991 205829991 C T rs236843 PARD3B Synonymous SNV A113A 0.541 0.526 0.616 204 635 202 0.523 181 180 61 56 56 14.54 11221 chr12 125397300 125397300 T C UBC Nonsynonymous SNV I340V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 11222 chr2 205912403 205912403 T C rs1510765 PARD3B Nonsynonymous SNV L165P 0.666 0.711 0.684 292 782 273 0.749 201 258 96 66 113 1.272 11223 chr13 103346806 103346806 C G rs2390760 METTL21C Nonsynonymous SNV G15R 0.579 0.544 0.582 236 680 209 0.605 171 189 58 52 71 2.645 11224 chr12 125397541 125397541 T C rs369243589 UBC Synonymous SNV Q259Q 0.011 0.01 0.014 9 13 4 0.023 4 0 0 0 0 0.006 11225 chr13 103383417 103383417 T C rs9554897 CCDC168 Nonsynonymous SNV K6544E 0.488 0.516 0.503 197 573 198 0.505 148 135 54 40 49 0.002 11226 chr2 206364737 206364737 T C rs10197347 PARD3B Synonymous SNV S985S 0.296 0.336 0.347 126 348 129 0.323 102 57 16 16 17 0.435 11227 chr12 124097766 124097766 A G rs11057306 DDX55 Nonsynonymous SNV N264S 0.103 0.112 0.048 39 121 43 0.1 14 8 5 0 5 3.506 11228 chr12 130841638 130841638 G A rs1106042 PIWIL1 Nonsynonymous SNV R527K 0.081 0.086 0.058 39 95 33 0.1 17 6 1 1 4 14.63 11229 chr2 206581033 206581033 G A rs849541 NRP2 Nonsynonymous SNV R123K 0.998 1 0.99 388 1172 384 0.995 291 585 192 144 193 13.3 11230 chr13 103385015 103385015 A G rs6491707 CCDC168 Nonsynonymous SNV L6011P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 2.795 11231 chr12 121858101 121858101 - GAT rs782753057 RNF34 D42_E43insD 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11232 chr12 110426804 110426804 C T rs35851164 GIT2 Synonymous SNV R123R 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 16.27 11233 chr12 14720555 14720557 GCA - rs147342083 PLBD1 L25del 0.487 0.43 0.425 168 572 165 0.431 125 278 81 61 80 11234 chr2 206592695 206592695 T C rs849526 NRP2 Synonymous SNV Y357Y 0.532 0.534 0.497 219 624 205 0.562 146 172 59 40 62 0.093 11235 chr13 103385299 103385299 A C rs7335290 CCDC168 Nonsynonymous SNV F5916L 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.001 11236 chr2 206608039 206608039 T C rs849568 NRP2 Synonymous SNV V468V 0.976 0.977 0.993 388 1146 375 0.995 292 559 183 145 193 8.137 11237 chr12 125435002 125435002 G A rs779549498 DHX37 Synonymous SNV C1026C 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 0.692 11238 chr13 103385798 103385798 T C rs7983175 CCDC168 Nonsynonymous SNV N5750S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.002 11239 chr2 206610502 206610502 T G rs849563 NRP2 Synonymous SNV P558P 0.129 0.12 0.167 45 152 46 0.115 49 4 2 4 1 10.95 11240 chr2 206874339 206874339 G A rs817991 INO80D Synonymous SNV P574P 0.342 0.339 0.391 143 402 130 0.367 115 59 22 24 26 13.52 11241 chr13 103386116 103386116 C G rs7982465 CCDC168 Nonsynonymous SNV R5644T 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 1.974 11242 chr12 14959391 14959391 T C rs2241221 SMCO3 Nonsynonymous SNV K75R 0.179 0.18 0.197 61 210 69 0.156 58 13 4 5 2 0.261 11243 chr2 206911228 206911228 G A rs2909111 INO80D Nonsynonymous SNV A358V 0.356 0.341 0.398 144 418 131 0.369 117 67 21 22 25 19.43 11244 chr2 179698945 179698945 G A rs16866554 CCDC141 Synonymous SNV V1516V 0.096 0.091 0.078 39 113 35 0.1 23 9 2 0 1 12.88 11245 chr12 117628244 117628244 G T rs376499056 FBXO21 Synonymous SNV V6V 0.009 0.008 0.014 0 11 3 0 4 0 0 0 0 10.14 11246 chr13 103386283 103386283 A G rs7982670 CCDC168 Synonymous SNV H5588H 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.002 11247 chr12 124246910 124246910 G A rs116918834 DNAH10 Nonsynonymous SNV M9I 0.08 0.096 0 33 94 37 0.085 0 3 2 0 0 17.61 11248 chr13 103388220 103388220 A G rs9300758 CCDC168 Nonsynonymous SNV S4943P 0.999 1 0.986 389 1173 384 0.997 290 586 192 144 194 0.222 11249 chr12 14976063 14976063 A G rs7304054 C12orf60 Nonsynonymous SNV K65R 0.179 0.18 0.197 61 210 69 0.156 58 13 4 5 2 0.002 11250 chr2 206921451 206921451 G A rs818009 INO80D Synonymous SNV T145T 0.761 0.734 0.803 284 893 282 0.728 236 334 103 93 99 9.606 11251 chr12 11138935 11138935 T C rs66679979 TAS2R50 Synonymous SNV S175S 0.155 0.141 0.177 49 182 54 0.126 52 10 3 3 2 0.059 11252 chr2 179732845 179732845 G A rs12988301 CCDC141 Nonsynonymous SNV R828W 0.106 0.099 0.071 44 124 38 0.113 21 9 2 0 1 18.95 11253 chr12 131590404 131590404 G A rs4759544 ADGRD1 Synonymous SNV P627P 0.253 0.279 0.272 108 297 107 0.277 80 38 12 10 15 6.505 11254 chr12 117768346 117768346 C T rs41340250 NOS1 Nonsynonymous SNV G177S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.49 11255 chr2 207169731 207169731 G A rs10932150 ZDBF2 Nonsynonymous SNV R160K 0.481 0.482 0.459 190 565 185 0.487 135 131 42 37 48 0.004 11256 chr13 103395819 103395819 C T rs1375720 CCDC168 Nonsynonymous SNV G2410R 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 5.005 11257 chr12 14976178 14976178 T A rs7307438 C12orf60 Nonsynonymous SNV N103K 0.179 0.18 0.197 61 210 69 0.156 58 13 4 5 2 17.29 11258 chr12 12630666 12630674 GCACGCTGG - rs142947418 DUSP16 P364_V366del 0.039 0.049 0.048 10 46 19 0.026 14 0 0 0 0 11259 chr13 103397937 103397937 T G rs9300759 CCDC168 Nonsynonymous SNV N1704H 0.224 0.237 0.221 95 263 91 0.244 65 31 8 8 14 13.54 11260 chr2 179770175 179770175 C A rs34883828 CCDC141 Nonsynonymous SNV E382D 0.13 0.133 0.129 56 153 51 0.144 38 10 3 2 4 23.7 11261 chr2 207172627 207172627 A G rs7582864 ZDBF2 Synonymous SNV Q1125Q 0.574 0.568 0.534 219 674 218 0.562 157 193 61 46 67 0.045 11262 chr12 14976418 14976419 TA - rs10556010 C12orf60 M184Dfs*14 0.179 0.18 0.194 61 210 69 0.156 57 13 4 5 2 11263 chr13 103449202 103449202 T C rs1047740 POGLUT2 Nonsynonymous SNV I114V 0.262 0.266 0.276 115 308 102 0.295 81 41 7 13 16 3.412 11264 chr12 14993439 14993439 C T rs11276 ART4 Nonsynonymous SNV D265N 0.437 0.453 0.439 170 513 174 0.436 129 104 43 30 34 Affects 4.949 11265 chr2 207174316 207174316 T C rs3732084 ZDBF2 Synonymous SNV S1688S 0.581 0.573 0.541 221 682 220 0.567 159 196 63 48 68 0.108 11266 chr13 103527849 103527849 G C rs9514066 BIVM-ERCC5, ERCC5 Nonsynonymous SNV G1053R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 23 11267 chr2 207603234 207603234 T G rs2287631 MDH1B Nonsynonymous SNV E412D 0.181 0.151 0.143 69 212 58 0.177 42 29 3 4 4 0.003 11268 chr12 14993608 14993608 G A rs3088189 ART4 Synonymous SNV L208L 0.437 0.453 0.439 170 513 174 0.436 129 104 43 30 34 11.69 11269 chr13 103527930 103527930 G C rs9514067 BIVM-ERCC5, ERCC5 Nonsynonymous SNV G1080R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 not provided 0.035 11270 chr12 14993854 14993854 A G rs1861698 ART4 Synonymous SNV Y126Y 0.4 0.432 0.398 157 470 166 0.403 117 87 41 29 30 0.074 11271 chr12 122281672 122281672 G T rs149281612 HPD Synonymous SNV R300R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.08 11272 chr2 207621759 207621759 A G rs1990849 MDH1B Synonymous SNV Y92Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.019 11273 chr12 15035081 15035081 T C rs4236 MGP Nonsynonymous SNV T102A 0.441 0.456 0.439 170 518 175 0.436 129 108 41 30 34 Benign 0.002 11274 chr12 129153986 129153986 G A rs4272850 TMEM132C Nonsynonymous SNV V444I 0.253 0.245 0.231 109 297 94 0.279 68 36 9 9 13 0.05 11275 chr2 207988613 207988613 C T rs2700166 KLF7 Synonymous SNV L173L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.28 11276 chr13 103528002 103528002 G C rs17655 BIVM-ERCC5, ERCC5 Nonsynonymous SNV D1104H 0.271 0.268 0.272 118 318 103 0.303 80 44 9 16 22 Benign 24.4 11277 chr12 132262713 132262713 C T rs79031981 SFSWAP Nonsynonymous SNV P749L 0.021 0.044 0.027 13 25 17 0.033 8 0 0 1 1 24 11278 chr2 208477852 208477852 G A rs2551949 METTL21A Nonsynonymous SNV T192I 0.836 0.841 0.779 331 981 323 0.849 229 411 139 87 142 13.93 11279 chr2 180810358 180810358 C T rs71425650 CWC22 Nonsynonymous SNV R742K 0.101 0.094 0.075 46 118 36 0.118 22 9 1 2 3 13.28 11280 chr13 107145463 107145463 G C rs7995379 EFNB2 Synonymous SNV G278G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.613 11281 chr12 124826462 124826462 C T rs2229840 NCOR2 Nonsynonymous SNV A1689T 0.15 0.156 0.16 50 176 60 0.128 47 12 7 5 3 26.9 11282 chr13 108863591 108863591 G A rs1805388 LIG4 Nonsynonymous SNV T9I 0.093 0.102 0.109 42 109 39 0.108 32 11 2 2 2 Benign 20.3 11283 chr12 15081898 15081898 G A rs11056243 ERP27 Nonsynonymous SNV T4I 0.4 0.419 0.374 148 470 161 0.379 110 89 40 28 22 4.276 11284 chr2 208477956 208477956 C T rs2709416 METTL21A Synonymous SNV Q157Q 0.836 0.841 0.779 331 981 323 0.849 229 411 139 87 142 11.74 11285 chr13 109777503 109777503 A G rs157024 MYO16 Nonsynonymous SNV I1193M 0.135 0.112 0.136 52 158 43 0.133 40 11 2 2 4 0.017 11286 chr2 208632817 208632817 G A rs35994626 FZD5 Nonsynonymous SNV P216L 0.081 0.068 0.061 26 95 26 0.067 18 5 1 0 1 14.81 11287 chr12 132281825 132281825 C T rs140589847 SFSWAP Synonymous SNV P879P 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 14.14 11288 chr12 113401212 113401212 G T rs45607836 OAS3 Nonsynonymous SNV A727S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.365 11289 chr13 109793474 109793474 T C rs28705148 MYO16 Synonymous SNV V1638V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.043 11290 chr2 208633413 208633413 T C rs4675711 FZD5 Synonymous SNV L17L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.265 11291 chr12 111652018 111652018 C T rs778761089 CUX2 Synonymous SNV S26S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 11292 chr13 109793720 109793720 A C rs7986595 MYO16 Synonymous SNV A1720A 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.042 11293 chr2 208811097 208811097 C T rs10932215 PLEKHM3 Synonymous SNV K562K 0.658 0.714 0.714 239 773 274 0.613 210 252 93 73 69 15.33 11294 chr13 110435914 110435914 G A rs12853546 IRS2 Synonymous SNV P829P 0.279 0.273 0.221 127 328 105 0.326 65 54 16 7 24 1.89 11295 chr12 15679120 15679120 C A rs6488782 PTPRO Synonymous SNV G696G 0.367 0.424 0.408 147 431 163 0.377 120 76 31 30 21 20.8 11296 chr13 110436232 110436232 G A rs3742210 IRS2 Synonymous SNV S723S 0.525 0.518 0.602 201 616 199 0.515 177 172 48 50 53 4.974 11297 chr2 208841964 208841964 A G rs4441448 PLEKHM3 Synonymous SNV N319N 0.666 0.682 0.704 264 782 262 0.677 207 253 86 79 89 0.003 11298 chr13 110804809 110804809 G A rs650724 COL4A1 Synonymous SNV S1600S 0.11 0.133 0.17 54 129 51 0.138 50 5 2 5 4 Benign 8.951 11299 chr13 110839550 110839550 T G rs536174 COL4A1 Nonsynonymous SNV T555P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 3.981 11300 chr2 208986637 208986637 T C rs2305430 CRYGD Synonymous SNV R95R 0.904 0.901 0.888 354 1061 346 0.908 261 479 157 116 161 Benign 2.864 11301 chr12 112036759 112036782 TGCTGCTGCTGCTGCTGCTGCTGT - rs751287394 ATXN2 Q21_Q28del 0 0.003 0 0 0 1 0 0 0 0 0 0 11302 chr2 208989037 208989037 A G rs2242074 CRYGD Synonymous SNV Y17Y 0.619 0.63 0.609 229 727 242 0.587 179 233 75 55 69 Benign 5.136 11303 chr12 125270773 125270773 A G rs2293440 SCARB1 Nonsynonymous SNV C511R 0.087 0.083 0.051 41 102 32 0.105 15 3 1 1 2 5.689 11304 chr13 110843985 110843985 T C rs1373744 COL4A1 Synonymous SNV Q516Q 0.991 0.992 0.986 386 1164 381 0.99 290 577 189 144 191 1.948 11305 chr2 209007559 209007559 T G rs796287 CRYGB Nonsynonymous SNV I111L 0.718 0.711 0.724 272 843 273 0.697 213 303 96 74 97 Benign 20.9 11306 chr13 110864225 110864225 A T rs532625 COL4A1 Synonymous SNV A144A 0.542 0.531 0.514 194 636 204 0.497 151 170 53 40 49 Benign 0.052 11307 chr13 110866346 110866346 G A rs34004222 COL4A1 Nonsynonymous SNV P54L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 11308 chr12 120313947 120313947 C T rs56193743 CIT Nonsynonymous SNV R9Q 0.009 0.008 0.003 7 10 3 0.018 1 0 0 0 0 Benign 23.2 11309 chr2 209010558 209010558 A G rs2854723 CRYGB Synonymous SNV P64P 0.57 0.578 0.544 217 669 222 0.556 160 200 57 48 59 Benign 0.744 11310 chr12 113565889 113565889 G A rs2305908 RASAL1 Synonymous SNV L73L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 8.732 11311 chr13 111077197 111077197 G A rs4238272 COL4A2 Synonymous SNV T99T 0.96 0.945 0.956 374 1127 363 0.959 281 541 171 134 179 Benign 8.688 11312 chr2 209036712 209036712 T C rs10804166 C2orf80 Nonsynonymous SNV S152G 0.917 0.906 0.905 356 1077 348 0.913 266 497 157 119 162 12.68 11313 chr12 113592306 113592306 - C rs200344876 CFAP73 Frameshift insertion E187Gfs*116 0 0 0 2 0 0 0.005 0 0 0 0 0 11314 chr12 120313953 120313953 C T rs36054900 CIT Nonsynonymous SNV G7E 0.014 0.01 0.007 1 16 4 0.003 2 0 0 0 0 23.3 11315 chr12 18234256 18234256 T C rs941048 RERGL Nonsynonymous SNV M162V 0.143 0.133 0.119 48 168 51 0.123 35 14 2 3 2 2.419 11316 chr13 111154058 111154058 T A rs439831 COL4A2 Synonymous SNV P1268P 0.999 1 0.983 389 1173 384 0.997 289 586 192 142 194 11.28 11317 chr13 111154061 111154061 T C rs409858 COL4A2 Synonymous SNV G1269G 0.999 1 0.983 389 1173 384 0.997 289 586 192 142 194 6.893 11318 chr2 183584755 183584755 G A rs6729801 DNAJC10 Nonsynonymous SNV D76N 0.451 0.456 0.626 177 529 175 0.454 184 204 67 64 68 22.2 11319 chr13 111155773 111155773 T C rs438758 COL4A2 Synonymous SNV T1361T 0.997 1 0.993 389 1170 384 0.997 292 583 192 145 194 0.675 11320 chr2 209036778 209036778 A G rs6435421 C2orf80 Nonsynonymous SNV C130R 1 0.997 0.99 389 1174 383 0.997 291 587 191 144 194 0.013 11321 chr12 18443809 18443809 C A rs7133666 PIK3C2G Nonsynonymous SNV A261E 0.075 0.068 0.041 28 88 26 0.072 12 1 1 0 0 18.82 11322 chr13 111156499 111156499 C T rs4771683 COL4A2 Synonymous SNV F1430F 0.998 1 0.98 389 1172 384 0.997 288 586 192 142 194 10.96 11323 chr13 111158874 111158874 A G rs445348 COL4A2 Synonymous SNV P1505P 0.919 0.919 0.888 365 1079 353 0.936 261 498 161 117 170 Benign 3.588 11324 chr2 209184980 209184980 G A rs10932258 PIKFYVE Nonsynonymous SNV S696N 1 1 0.823 389 1174 384 0.997 242 587 192 120 194 Benign 11.65 11325 chr13 111176393 111176393 A G rs419244 RAB20 Synonymous SNV F108F 0.806 0.792 0.84 323 946 304 0.828 247 379 124 102 133 5.873 11326 chr12 18446881 18446881 C T rs7301521 PIK3C2G Synonymous SNV C322C 0.075 0.07 0.048 28 88 27 0.072 14 1 1 0 0 4.587 11327 chr13 111176519 111176519 G T rs375814 RAB20 Synonymous SNV G66G 0.376 0.385 0.408 171 442 148 0.438 120 79 29 22 43 6.519 11328 chr12 116422058 116422058 C T rs746608608 MED13L Synonymous SNV Q1486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 11329 chr2 209184999 209184999 C T rs10932259 PIKFYVE Synonymous SNV P702P 0.979 0.977 0.779 380 1149 375 0.974 229 562 183 111 186 Benign 14.34 11330 chr12 18649057 18649057 C T rs12312266 PIK3C2G Nonsynonymous SNV P911L 0.302 0.279 0.262 91 355 107 0.233 77 49 13 10 10 34 11331 chr13 111319754 111319754 T C rs4628819 CARS2 Synonymous SNV E284E 0.834 0.828 0.837 334 979 318 0.856 246 409 131 105 143 Benign 0.037 11332 chr12 116428893 116428893 G A rs200187663 MED13L Nonsynonymous SNV P1289L 0.009 0.005 0 0 10 2 0 0 0 0 0 0 Uncertain significance 21.7 11333 chr2 209190330 209190330 T C rs2363468 PIKFYVE Nonsynonymous SNV L932S 0.978 0.977 0.942 379 1148 375 0.972 277 561 183 131 185 Benign 8.844 11334 chr13 111368164 111368164 T G rs7338333 ING1 Nonsynonymous SNV L125R 0.998 1 0.963 389 1172 384 0.997 283 586 192 141 194 1.578 11335 chr2 183799558 183799558 G C rs9288088 NCKAP1 Synonymous SNV V927V 0.698 0.674 0.704 282 820 259 0.723 207 306 90 81 100 8.619 11336 chr12 18841115 18841115 G A rs10505830 PLCZ1 Nonsynonymous SNV S307L 0.022 0.021 0.024 4 26 8 0.01 7 0 1 0 0 15.14 11337 chr12 132862868 132862868 G A rs78370891 GALNT9 Synonymous SNV L129L 0.09 0.107 0.105 46 106 41 0.118 31 8 2 1 2 10.32 11338 chr2 209190519 209190519 A T rs893254 PIKFYVE Nonsynonymous SNV Q995L 0.979 0.977 0.942 380 1149 375 0.974 277 562 183 131 186 Benign 7.471 11339 chr12 123030788 123030788 G T rs7968222 KNTC1 Nonsynonymous SNV K245N 0.141 0.151 0.156 54 165 58 0.138 46 13 6 5 5 25.6 11340 chr13 111368316 111368316 C T rs9555726 ING1 Synonymous SNV L176L 0.681 0.638 0.65 273 800 245 0.7 191 278 79 67 96 5.481 11341 chr12 18891703 18891703 C A rs34456980 CAPZA3 Nonsynonymous SNV N167K 0.011 0.008 0.01 3 13 3 0.008 3 0 0 0 0 23.8 11342 chr13 111980537 111980537 C T rs1359428 TEX29 Synonymous SNV D22D 0.492 0.495 0.497 188 578 190 0.482 146 148 44 38 41 9.703 11343 chr13 111995104 111995104 G A rs35219695 TEX29 Nonsynonymous SNV V81I 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 1.78 11344 chr2 209190528 209190528 C G rs893253 PIKFYVE Nonsynonymous SNV T998S 0.979 0.982 0.949 380 1149 377 0.974 279 562 185 133 186 Benign 0.001 11345 chr12 123070218 123070218 G A rs36117464 KNTC1 Synonymous SNV E1190E 0.053 0.052 0.082 23 62 20 0.059 24 2 0 2 1 10.86 11346 chr12 1955786 1955786 G A rs11836202 CACNA2D4 Synonymous SNV F772F 0.035 0.042 0.051 15 41 16 0.038 15 0 0 0 0 Benign 14.08 11347 chr12 13208552 13208552 C T rs4763924 FAM234B Synonymous SNV D35D 0.168 0.143 0.187 76 197 55 0.195 55 18 3 2 6 12.04 11348 chr12 1965369 1965369 G A rs2286372 CACNA2D4 Synonymous SNV L679L 0.04 0.052 0.048 15 47 20 0.038 14 0 0 0 0 Benign 2.867 11349 chr13 113201819 113201819 C T rs41288616 TUBGCP3 Nonsynonymous SNV R428H 0.094 0.089 0.105 29 110 34 0.074 31 4 2 2 0 5.58 11350 chr12 123102921 123102921 T G rs11837038 KNTC1 Nonsynonymous SNV V2021G 0.137 0.141 0.15 54 161 54 0.138 44 13 5 5 5 28.3 11351 chr12 125561151 125561151 A G rs11549081 AACS Nonsynonymous SNV I118V 0.164 0.174 0.19 65 192 67 0.167 56 14 3 4 5 0.003 11352 chr13 113201853 113201867 TGGGAAAGTCGCGCG - rs142738218 TUBGCP3 T412_P416del 0.183 0.19 0.204 62 215 73 0.159 60 31 12 11 6 11353 chr2 209191082 209191082 C A rs1529979 PIKFYVE Nonsynonymous SNV Q1183K 0.977 0.977 0.942 380 1147 375 0.974 277 560 183 131 186 Benign 3.433 11354 chr13 113527967 113527967 G A rs1320525 ATP11A Synonymous SNV S1046S 0.392 0.375 0.429 139 460 144 0.356 126 91 27 27 23 9.249 11355 chr13 113536132 113536132 T C rs1290177 ATP11A Synonymous SNV N1110N 0.482 0.492 0.486 171 566 189 0.438 143 128 48 33 40 10.56 11356 chr2 209191099 209191099 T C rs1529978 PIKFYVE Synonymous SNV N1188N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.002 11357 chr13 113728781 113728781 G A rs3814264 MCF2L Synonymous SNV A302A 0.17 0.174 0.184 58 199 67 0.149 54 19 8 4 5 10.28 11358 chr2 209207335 209207335 C T rs35784095 PIKFYVE Synonymous SNV C1663C 0.027 0.031 0.014 14 32 12 0.036 4 0 0 0 0 Likely benign 16.61 11359 chr13 113801737 113801737 C T rs5960 F10 Synonymous SNV T220T 0.886 0.859 0.864 350 1040 330 0.897 254 461 142 110 157 Benign 7.25 11360 chr2 209212707 209212707 G A rs2304545 PIKFYVE Synonymous SNV T1778T 0.836 0.854 0.786 320 982 328 0.821 231 410 141 94 130 Benign 15.81 11361 chr13 113818900 113818900 A G rs564081 PROZ Synonymous SNV T149T 0.991 0.995 0.993 389 1164 382 0.997 292 577 190 145 194 0.023 11362 chr12 133306589 133306589 C T rs10781634 ANKLE2 Nonsynonymous SNV R720H 0.375 0.391 0.398 148 440 150 0.379 117 87 28 22 28 14.56 11363 chr2 185803364 185803364 C G rs3731834 ZNF804A Nonsynonymous SNV L1081V 0.229 0.227 0.259 94 269 87 0.241 76 25 6 8 8 19.73 11364 chr13 113965176 113965176 C A rs9577503 LAMP1 Synonymous SNV R186R 0.998 0.99 0.997 389 1172 380 0.997 293 585 188 146 194 15.03 11365 chr2 209214770 209214770 A G rs2118297 PIKFYVE Synonymous SNV T1799T 0.977 0.977 0.932 380 1147 375 0.974 274 560 183 130 186 Benign 7.724 11366 chr13 113979880 113979880 G A rs55866528 GRTP1 Synonymous SNV D339D 0.099 0.117 0.085 47 116 45 0.121 25 5 3 1 1 0.5 11367 chr2 209215586 209215586 A G rs994697 PIKFYVE Synonymous SNV E1842E 0.977 0.977 0.942 380 1147 375 0.974 277 560 183 131 186 Benign 10.46 11368 chr13 114150039 114150039 A G rs142418115 TMCO3 Nonsynonymous SNV Q48R 0.002 0 0.014 0 2 0 0 4 0 0 0 0 2.88 11369 chr12 133331537 133331537 G A rs1132375 ANKLE2 Nonsynonymous SNV H122Y 0.348 0.362 0.374 138 409 139 0.354 110 78 23 23 26 5.542 11370 chr2 209358027 209358027 C T rs3820900 PTH2R Synonymous SNV N229N 0.724 0.758 0.765 302 850 291 0.774 225 308 106 89 111 11.01 11371 chr12 117724018 117724018 T G rs9658356 NOS1 Nonsynonymous SNV D58A 0.005 0.008 0.007 7 6 3 0.018 2 0 0 0 0 Likely benign 15.62 11372 chr13 114152755 114152755 C T rs2260218 TMCO3 Synonymous SNV D181D 0.149 0.19 0.18 54 175 73 0.138 53 18 10 8 5 11.66 11373 chr2 210698785 210698785 C T rs75245711 UNC80 Synonymous SNV V945V 0.049 0.042 0.044 12 57 16 0.031 13 1 1 0 0 15.43 11374 chr12 12871199 12871199 G A rs149775942 CDKN1B Synonymous SNV T142T 0.01 0 0.007 4 12 0 0.01 2 0 0 0 0 Benign/Likely benign 12.03 11375 chr13 114154419 114154419 G A rs2260159 TMCO3 Synonymous SNV K257K 0.149 0.19 0.184 54 175 73 0.138 54 18 10 9 5 15.23 11376 chr13 114156093 114156093 C T rs2260080 TMCO3 Synonymous SNV S217S 0.161 0.198 0.207 61 189 76 0.156 61 22 11 9 6 14.06 11377 chr2 210843383 210843383 G A rs2075117 UNC80 Synonymous SNV Q2957Q 0.644 0.685 0.663 257 756 263 0.659 195 233 89 64 80 8.404 11378 chr13 114175004 114175004 C T rs2260334 TMCO3 Synonymous SNV A369A 0.159 0.195 0.207 59 187 75 0.151 61 22 10 9 6 18.06 11379 chr2 211421452 211421452 - TCT rs61509952 CPS1 I10_K11insF 0.483 0.487 0.524 188 567 187 0.482 154 121 49 43 46 11380 chr13 114175032 114175032 G A rs2260335 TMCO3 Nonsynonymous SNV A379T 0.147 0.188 0.184 52 172 72 0.133 54 18 10 9 5 13.2 11381 chr2 211438062 211438062 T G rs778958318 CPS1 Nonsynonymous SNV M56R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 11382 chr13 114312354 114312354 T G rs9285616 ATP4B Synonymous SNV R36R 1 0.997 0.929 389 1174 383 0.997 273 587 191 136 194 4.082 11383 chr2 211456637 211456637 A G rs1047883 CPS1 Nonsynonymous SNV T344A 0.598 0.607 0.582 240 702 233 0.615 171 203 76 50 72 Benign 4.189 11384 chr13 114322289 114322289 A G rs9796035 GRK1 Synonymous SNV L196L 0.612 0.589 0.534 227 718 226 0.582 157 222 67 41 67 0.051 11385 chr13 114453592 114453605 TGTGTGTGCATGCC - rs376028223 LINC00552 0 0 0.167 0 0 0 0 49 0 0 5 0 11386 chr13 114503876 114503957 CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGGAGGTGAGGGGCGCTGGGGACCCCCGTATCTACA - rs66696122 TMEM255B C168Qfs*32 0.204 0.201 0.17 54 239 77 0.138 50 31 7 6 4 11387 chr2 211456639 211456639 C T rs2229589 CPS1 Synonymous SNV T344T 0.598 0.607 0.588 240 702 233 0.615 173 203 76 51 72 Benign 15.25 11388 chr12 133428242 133428242 G A rs2306541 CHFR Nonsynonymous SNV A405V 0.352 0.333 0.384 118 413 128 0.303 113 77 21 23 20 25.6 11389 chr13 114623880 114623880 G A rs7399982 LINC00452 0.751 0.776 0.762 292 882 298 0.749 224 335 120 83 108 0.194 11390 chr12 129189702 129189702 C G rs12426596 TMEM132C Nonsynonymous SNV T730S 0.029 0.008 0.027 11 34 3 0.028 8 2 0 0 0 10.37 11391 chr2 211481257 211481257 C G rs2287599 CPS1 Synonymous SNV G893G 0.595 0.594 0.605 230 699 228 0.59 178 200 71 54 67 Benign 14.05 11392 chr13 114780764 114780764 A G rs2274717 RASA3 Synonymous SNV T410T 0.705 0.742 0.745 300 828 285 0.769 219 300 107 79 113 0.011 11393 chr12 113553446 113553446 G C RASAL1 Nonsynonymous SNV R333G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.6 11394 chr2 211540507 211540507 C A rs1047891 CPS1 Nonsynonymous SNV T1406N 0.3 0.271 0.306 122 352 104 0.313 90 48 14 12 17 Benign 22.1 11395 chr12 21011480 21011480 T G rs4149117 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV S84A 0.875 0.87 0.881 334 1027 334 0.856 259 450 143 118 146 Benign 9.463 11396 chr13 20398669 20398669 T C rs9508907 ZMYM5 Nonsynonymous SNV H653R 0.807 0.779 0.789 319 948 299 0.818 232 388 121 95 132 0.001 11397 chr12 133439002 133439002 G A rs9943856 CHFR Nonsynonymous SNV P138L 0.252 0.271 0.102 93 296 104 0.238 30 34 14 5 13 2.505 11398 chr13 20398742 20398742 C T rs9508908 ZMYM5 Nonsynonymous SNV V629I 0.807 0.779 0.779 319 948 299 0.818 229 388 121 95 132 11.56 11399 chr2 212251864 212251864 T C rs3748962 ERBB4 Synonymous SNV V1049V 0.267 0.24 0.262 110 314 92 0.282 77 47 14 9 18 0.221 11400 chr12 21015760 21015760 G A rs7311358 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV M205I 0.875 0.87 0.881 334 1027 334 0.856 259 450 143 118 146 Benign 9.308 11401 chr12 132628809 132628809 G A rs61942922 DDX51 Synonymous SNV G11G 0.05 0.044 0.041 21 59 17 0.054 12 2 0 2 1 3.551 11402 chr12 132636681 132636681 A G rs779013901 NOC4L Nonsynonymous SNV N457S 0.003 0 0 5 3 0 0.013 0 0 0 0 0 13.38 11403 chr2 214012508 214012508 C T rs6709554 IKZF2 Synonymous SNV E21E 0.351 0.411 0.303 139 412 158 0.356 89 67 31 13 26 3.982 11404 chr13 20608465 20608465 T C rs79833154 ZMYM2 Synonymous SNV Y680Y 0.045 0.044 0.061 18 53 17 0.046 18 4 0 1 0 0.018 11405 chr12 129190266 129190266 G A rs112818862 TMEM132C Nonsynonymous SNV R918Q 0.009 0.005 0.007 3 10 2 0.008 2 0 0 0 0 20.9 11406 chr13 20716411 20716411 C T rs11617415 GJA3 Synonymous SNV A339A 0.244 0.273 0.224 105 286 105 0.269 66 40 12 8 15 Benign 14.09 11407 chr2 214727221 214727221 A C rs2042791 SPAG16 Nonsynonymous SNV Q361H 0.37 0.365 0.347 120 434 140 0.308 102 83 25 15 17 0.058 11408 chr13 20716533 20716533 G T rs968566 GJA3 Nonsynonymous SNV L299M 1 1 0.973 389 1174 384 0.997 286 587 192 142 194 Benign 0.001 11409 chr12 113867073 113867073 G C rs113152874 SDSL Nonsynonymous SNV G108A 0.014 0.026 0.01 6 17 10 0.015 3 0 0 0 0 1.66 11410 chr12 21036411 21036411 A G rs2053098 SLCO1B3, SLCO1B3-SLCO1B7 Synonymous SNV A491A 0.875 0.87 0.864 335 1027 334 0.859 254 450 143 116 147 Benign 0.018 11411 chr2 215593522 215593522 T C rs61754118 BARD1 Nonsynonymous SNV I225V 0.034 0.036 0.034 14 40 14 0.036 10 0 0 0 0 Benign/Likely benign 11.71 11412 chr13 21063524 21063524 A G rs14236 CRYL1 Synonymous SNV G87G 0.221 0.201 0.276 99 259 77 0.254 81 29 12 9 10 5.987 11413 chr12 129190480 129190480 G A rs7316019 TMEM132C Synonymous SNV P989P 0.092 0.099 0.065 28 108 38 0.072 19 9 1 1 0 0.287 11414 chr12 21054369 21054369 G A rs3764006 SLCO1B3, SLCO1B3-SLCO1B7 Synonymous SNV G583G 0.888 0.875 0.837 342 1042 336 0.877 246 465 145 114 152 Benign 6.11 11415 chr13 21205192 21205192 G A rs9509307 IFT88 Nonsynonymous SNV S398N 0.767 0.784 0.765 282 901 301 0.723 225 345 117 88 101 Benign 23.4 11416 chr2 215632255 215632255 C T rs2070094 BARD1 Nonsynonymous SNV V488M 0.359 0.375 0.347 122 422 144 0.313 102 73 24 13 22 Benign/Likely benign 4.771 11417 chr13 21562832 21562832 C T rs2770928 LATS2 Nonsynonymous SNV G363S 0.915 0.896 0.871 346 1074 344 0.887 256 493 154 113 153 1.173 11418 chr12 132862976 132862976 G A rs28503969 GALNT9 Synonymous SNV G93G 0.313 0.344 0.313 130 368 132 0.333 92 59 25 19 23 12.69 11419 chr2 215632256 215632256 A G rs2070093 BARD1 Synonymous SNV H487H 0.813 0.818 0.779 300 954 314 0.769 229 390 129 91 114 Benign 0.535 11420 chr12 12939892 12939892 G A rs4763876 APOLD1 Nonsynonymous SNV R49Q 0.091 0.107 0.058 42 107 41 0.108 17 9 6 4 1 26 11421 chr13 21562948 21562948 G A rs558614 LATS2 Nonsynonymous SNV A324V 0.832 0.828 0.776 316 977 318 0.81 228 407 130 95 127 13.07 11422 chr2 215645464 215645464 C G rs2229571 BARD1 Nonsynonymous SNV R359S 0.537 0.552 0.578 195 630 212 0.5 170 167 55 47 54 Benign 8.652 11423 chr13 21729252 21729252 T C rs11147976 SKA3 Nonsynonymous SNV K386R 0.106 0.115 0.109 35 124 44 0.09 32 0 0 0 0 2.947 11424 chr12 21243001 21243001 C T rs73241801 SLCO1B3-SLCO1B7, SLCO1B7 Synonymous SNV N628N 0.065 0.078 0.031 21 76 30 0.054 9 2 0 0 1 6.724 11425 chr12 133159846 133159846 C T rs56171012 FBRSL1 Synonymous SNV L874L 0.185 0.19 0.054 73 217 73 0.187 16 31 10 4 6 10.1 11426 chr2 215674224 215674224 G A rs1048108 BARD1 Nonsynonymous SNV P24S 0.336 0.378 0.34 118 395 145 0.303 100 64 24 13 17 Benign 11.97 11427 chr12 21329738 21329738 A G rs2306283 SLCO1B1 Nonsynonymous SNV N130D 0.482 0.51 0.282 175 566 196 0.449 83 131 49 20 31 Conflicting interpretations of pathogenicity 0.002 11428 chr13 21729267 21729267 G A rs11147977 SKA3 Nonsynonymous SNV T381I 0.105 0.112 0.109 35 123 43 0.09 32 0 0 0 0 4.647 11429 chr12 130941150 130941150 G C rs2277361 RIMBP2 Synonymous SNV G66G 0.352 0.344 0.286 140 413 132 0.359 84 79 19 12 29 4.048 11430 chr12 124330311 124330311 C T rs34934281 DNAH10 Nonsynonymous SNV T1724M 0.14 0.138 0.156 80 164 53 0.205 46 11 3 4 10 Benign 14.04 11431 chr12 120263003 120263003 G C rs55707601 CIT Nonsynonymous SNV S308C 0.017 0.01 0.01 6 20 4 0.015 3 0 0 0 0 21.7 11432 chr13 21732094 21732094 C T rs4770121 SKA3 Synonymous SNV P362P 0.941 0.974 0.925 360 1105 374 0.923 272 527 183 126 170 14.18 11433 chr2 215820013 215820013 G A rs10498027 ABCA12 Synonymous SNV Y1784Y 0.427 0.445 0.408 146 501 171 0.374 120 106 39 25 24 Benign 9.691 11434 chr13 21735998 21735998 T C rs17345690 SKA3 Nonsynonymous SNV T254A 0.139 0.154 0.139 56 163 59 0.144 41 13 3 3 5 0.017 11435 chr2 215865575 215865575 T C rs10498030 ABCA12 Synonymous SNV P693P 0.25 0.221 0.296 130 293 85 0.333 87 40 8 12 20 Benign 3.666 11436 chr12 21331625 21331625 C T rs2291075 SLCO1B1 Synonymous SNV F199F 0.483 0.51 0.364 179 567 196 0.459 107 135 50 26 34 Benign 12.16 11437 chr12 120270638 120270638 G A rs17442937 CIT Synonymous SNV D230D 0.017 0.01 0.01 6 20 4 0.015 3 0 0 0 0 9.688 11438 chr2 215876166 215876166 A T rs7560008 ABCA12 Nonsynonymous SNV S459T 0.991 0.995 0.997 389 1164 382 0.997 293 582 191 146 194 Benign 0.082 11439 chr13 21742311 21742311 C T rs61950353 SKA3 Nonsynonymous SNV V187I 0.106 0.117 0.122 35 125 45 0.09 36 0 0 0 0 0.009 11440 chr12 21487544 21487544 A G rs10841795 SLCO1A2 Nonsynonymous SNV I13T 0.119 0.161 0.153 35 140 62 0.09 45 5 7 6 2 9.812 11441 chr12 13906532 13906532 C T rs1011538956 GRIN2B Synonymous SNV V243V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.27 11442 chr13 22275394 22275394 A G rs9509841 FGF9 Synonymous SNV S149S 0.84 0.826 0.844 332 986 317 0.851 248 410 129 103 141 Benign 8.705 11443 chr2 216190020 216190020 C G rs2372536 ATIC Nonsynonymous SNV T116S 0.387 0.367 0.347 141 454 141 0.362 102 86 29 17 22 Benign 21.7 11444 chr13 23898509 23898509 T C rs1800353 SGCG Synonymous SNV L235L 0.759 0.727 0.667 283 891 279 0.726 196 339 100 61 105 Benign/Likely benign 8.99 11445 chr12 14613700 14613700 A G rs61754407 ATF7IP Synonymous SNV P809P 0.018 0.026 0.014 6 21 10 0.015 4 0 1 0 0 6.865 11446 chr13 23898664 23898664 A G rs1800354 SGCG Nonsynonymous SNV N287S 0.883 0.836 0.823 331 1037 321 0.849 242 460 131 101 139 Benign 4.804 11447 chr12 120637199 120637199 G A rs1045110 RPLP0 Synonymous SNV R48R 0.052 0.089 0.027 19 61 34 0.049 8 1 2 0 1 10.45 11448 chr12 14649196 14649196 A G rs61754409 ATF7IP Synonymous SNV T1103T 0.042 0.039 0.027 25 49 15 0.064 8 3 0 0 0 0.017 11449 chr2 216229692 216229692 A G rs11651 FN1 Synonymous SNV Y2181Y 0.395 0.367 0.34 144 464 141 0.369 100 87 27 17 20 4.839 11450 chr2 216235089 216235089 C T rs1250209 FN1 Nonsynonymous SNV V2055I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 22.4 11451 chr13 23905912 23905912 T C rs147634443 SACS Nonsynonymous SNV I3888V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 11452 chr13 23907677 23907677 C T rs2737701 SACS Synonymous SNV Q3299Q 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 Benign 6.804 11453 chr2 216236712 216236712 T C rs17449032 FN1 Nonsynonymous SNV I2006V 0.014 0.018 0.024 9 17 7 0.023 7 0 0 0 0 15.03 11454 chr13 23908034 23908034 A G rs2737700 SACS Synonymous SNV A3180A 0.427 0.414 0.361 165 501 159 0.423 106 114 34 21 34 Benign/Likely benign 1.81 11455 chr12 25148755 25148755 C A rs864161 C12orf77 Nonsynonymous SNV L131F 0.043 0.06 0 23 50 23 0.059 0 1 0 0 0 0.002 11456 chr13 23914464 23914464 G C rs374961109 SACS Nonsynonymous SNV P1037R 0 0 0.007 0 0 0 0 2 0 0 1 0 11.23 11457 chr2 216249587 216249587 C T rs13652 FN1 Synonymous SNV E1484E 0.863 0.823 0.867 325 1013 316 0.833 255 440 127 109 135 15.33 11458 chr2 216269209 216269209 T G rs1053238 FN1 Synonymous SNV P1052P 0.445 0.422 0.418 154 523 162 0.395 123 120 38 28 29 1.057 11459 chr13 24234517 24234517 A G rs3751364 TNFRSF19 Synonymous SNV S76S 0.755 0.742 0.779 297 886 285 0.762 229 334 109 88 116 0.005 11460 chr2 216269254 216269254 T G rs7589580 FN1 Synonymous SNV G1037G 0.445 0.422 0.418 154 523 162 0.395 123 120 38 28 29 9.115 11461 chr13 24243200 24243200 T C rs3751363 TNFRSF19 Synonymous SNV G271G 0.852 0.849 0.854 328 1000 326 0.841 251 428 142 108 139 0.071 11462 chr2 216272900 216272900 T G rs2577301 FN1 Nonsynonymous SNV T817P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14 11463 chr13 24411772 24411772 T C rs7333040 MIPEP Nonsynonymous SNV S488G 0.993 0.982 0.986 389 1166 377 0.997 290 579 185 143 194 14.79 11464 chr12 25164331 25164331 A G rs699039 LOC645177 Nonsynonymous SNV N239D 0.205 0.211 0 81 241 81 0.208 0 26 9 0 7 2.228 11465 chr12 25205241 25205241 G C rs2086939 LOC645177 Nonsynonymous SNV R730S 0.227 0.219 0 74 267 84 0.19 0 28 13 0 8 1.064 11466 chr2 216300482 216300482 T A rs1250259 FN1 Nonsynonymous SNV Q15L 0.699 0.716 0.755 291 821 275 0.746 222 283 96 87 109 Benign 13.69 11467 chr12 124887058 124887058 - GCTGCT NCOR2 Q509_P510insQQ 0.092 0.107 0.037 36 108 41 0.092 11 2 1 4 2 11468 chr13 24797913 24797913 C T rs1220546 SPATA13 Synonymous SNV D282D 0.336 0.362 0.262 116 394 139 0.297 77 62 23 15 20 9.617 11469 chr13 24798120 24798120 T C rs1220547 SPATA13 Synonymous SNV L351L 0.469 0.477 0.408 185 551 183 0.474 120 121 41 25 39 0.045 11470 chr2 216861171 216861171 G A rs200466592 MREG Nonsynonymous SNV S38F 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.7 11471 chr2 187559029 187559029 - CAG rs549897920 FAM171B Q56_K57insQ 0.347 0.354 0.228 135 407 136 0.346 67 70 30 13 21 11472 chr13 24871590 24871590 G A rs749041468 SPATA13 Synonymous SNV T335T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 13.05 11473 chr2 187559029 187559029 - CAGCAG rs549897920 FAM171B Q56_K57insQQ 0.249 0.253 0.085 109 292 97 0.279 25 38 18 5 13 11474 chr2 187626338 187626338 C T rs13026081 FAM171B Synonymous SNV D423D 0.352 0.362 0.371 140 413 139 0.359 109 80 34 19 20 8.011 11475 chr13 24876752 24876752 T C rs33990382 SPATA13 Synonymous SNV P460P 0.338 0.349 0.395 153 397 134 0.392 116 70 26 24 29 0.082 11476 chr2 216878008 216878008 C G rs1864253 MREG Nonsynonymous SNV G15R 0.519 0.549 0.507 223 609 211 0.572 149 163 57 38 64 13.52 11477 chr12 25311489 25311489 G T rs10842496 CASC1 Nonsynonymous SNV R33S 0.323 0.359 0.065 115 379 138 0.295 19 58 24 7 19 25.6 11478 chr2 187698751 187698751 G A rs7559533 ZSWIM2 Synonymous SNV T250T 0.267 0.273 0.241 116 313 105 0.297 71 40 19 12 17 12.72 11479 chr13 25027744 25027744 A G rs4770684 PARP4 Nonsynonymous SNV M936T 0.98 0.969 0.963 385 1151 372 0.987 283 566 181 136 190 0.001 11480 chr2 217012901 217012901 A G rs207906 XRCC5 Synonymous SNV T524T 0.819 0.836 0.806 314 961 321 0.805 237 392 139 96 126 0.006 11481 chr2 187702100 187702100 G T rs112852209 ZSWIM2 Nonsynonymous SNV L226M 0.016 0.023 0.034 6 19 9 0.015 10 0 0 0 0 22.1 11482 chr13 25029295 25029295 C T rs7140044 PARP4 Nonsynonymous SNV S873N 0.191 0.154 0.184 74 224 59 0.19 54 26 4 4 4 0.006 11483 chr2 217541582 217541582 T C rs2160549 IGFBP5 Synonymous SNV K237K 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 4.136 11484 chr12 132631855 132631855 C T rs11543305 NOC4L Synonymous SNV F125F 0.105 0.12 0.075 36 123 46 0.092 22 6 1 0 1 13.96 11485 chr2 218712306 218712306 C T rs1004814 TNS1 Synonymous SNV A853A 0.343 0.357 0.327 132 403 137 0.338 96 68 23 17 25 8.365 11486 chr13 25075859 25075859 C T rs1539096 PARP4 Synonymous SNV R82R 0.579 0.539 0.52 224 680 207 0.574 153 204 56 43 65 10.14 11487 chr12 132633436 132633479 CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC - NOC4L D299Efs*25 0.108 0.122 0.088 39 127 47 0.1 26 3 0 7 0 11488 chr12 13761741 13761741 G A rs1805522 GRIN2B Synonymous SNV I602I 0.022 0.021 0.041 11 26 8 0.028 12 0 0 0 0 Benign 12.38 11489 chr2 218712606 218712606 G A rs1364641 TNS1 Synonymous SNV S753S 0.346 0.359 0.327 131 406 138 0.336 96 68 23 17 25 3.614 11490 chr13 25419176 25419176 A G rs6490984 RNF17 Synonymous SNV T1020T 0.932 0.919 0.922 357 1094 353 0.915 271 508 162 125 165 2.03 11491 chr12 13764774 13764774 G A rs1805482 GRIN2B Synonymous SNV S555S 0.313 0.286 0.32 132 367 110 0.338 94 62 17 17 30 Benign 7.736 11492 chr13 25825889 25825889 T C rs4312169 MTMR6 Synonymous SNV Q501Q 0.815 0.792 0.796 322 957 304 0.826 234 396 121 94 133 1.382 11493 chr2 218712726 218712726 A G rs1364642 TNS1 Synonymous SNV N713N 0.348 0.357 0.327 132 408 137 0.338 96 68 23 17 25 0.01 11494 chr12 26275555 26275555 G A rs11048413 BHLHE41 Nonsynonymous SNV A298V 0.214 0.229 0.214 77 251 88 0.197 63 86 34 15 21 16.23 11495 chr13 25831888 25831888 T C rs7995033 MTMR6 Nonsynonymous SNV I319V 0.798 0.776 0.803 313 937 298 0.803 236 372 116 93 126 6.969 11496 chr2 218712918 218712918 C T rs3796031 TNS1 Synonymous SNV S649S 0.507 0.521 0.551 194 595 200 0.497 162 151 46 44 44 15.79 11497 chr12 26377232 26377232 T C rs34624361 SSPN Synonymous SNV L96L 0.06 0.068 0.095 21 71 26 0.054 28 3 2 1 1 3.633 11498 chr13 25876011 25876011 G A rs11556093 NUP58 Nonsynonymous SNV A34T 0.491 0.464 0.422 178 576 178 0.456 124 145 45 30 44 7.283 11499 chr12 15070187 15070187 T C rs79989395 ERP27 Nonsynonymous SNV I66M 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.36 11500 chr2 218712936 218712936 C T rs3796032 TNS1 Synonymous SNV V643V 0.348 0.357 0.327 134 408 137 0.344 96 68 23 17 25 9.613 11501 chr12 26732987 26732987 G A rs2230376 ITPR2 Synonymous SNV P1494P 0.251 0.271 0.241 124 295 104 0.318 71 41 14 10 19 8.581 11502 chr2 218713282 218713282 G A rs3796033 TNS1 Nonsynonymous SNV T528I 0.345 0.354 0.333 131 405 136 0.336 98 67 22 19 24 14.17 11503 chr12 26733062 26733062 T C rs2230375 ITPR2 Synonymous SNV K1469K 0.29 0.307 0.262 140 340 118 0.359 77 51 16 13 25 3.933 11504 chr13 26148966 26148966 C T rs6491066 ATP8A2 Synonymous SNV F521F 0.583 0.62 0.697 237 685 238 0.608 205 241 86 71 85 Likely benign 13.1 11505 chr13 26273385 26273385 G C rs6491088 ATP8A2 Synonymous SNV L722L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Likely benign 10.26 11506 chr12 26749831 26749831 G A rs2230377 ITPR2 Synonymous SNV D1413D 0.296 0.315 0.286 141 348 121 0.362 84 53 19 15 25 10.86 11507 chr2 218745685 218745685 G A rs10199795 TNS1 Synonymous SNV S330S 0.501 0.544 0.534 198 588 209 0.508 157 151 52 44 50 15.94 11508 chr2 189904203 189904203 A G rs10208525 COL5A2 Synonymous SNV Y1240Y 0.188 0.177 0.197 67 221 68 0.172 58 31 5 6 5 Benign/Likely benign 0.01 11509 chr13 28009920 28009920 G C rs1218825 MTIF3 Nonsynonymous SNV F243L 0.944 0.943 0.939 364 1108 362 0.933 276 524 170 131 170 0.007 11510 chr12 14664250 14664250 A G rs2287541 PLBD1 Nonsynonymous SNV V377A 0.049 0.047 0.041 11 57 18 0.028 12 1 1 0 0 25 11511 chr2 219000310 219000310 C T rs2230054 CXCR2 Synonymous SNV L262L 0.516 0.549 0.537 226 606 211 0.579 158 154 52 46 63 8.266 11512 chr2 189904233 189904233 T G rs10197596 COL5A2 Synonymous SNV T1230T 0.188 0.177 0.197 67 221 68 0.172 58 31 5 6 5 Benign/Likely benign 10.08 11513 chr13 28143229 28143229 A G rs8002697 LNX2 Nonsynonymous SNV S198P 0.565 0.576 0.612 236 663 221 0.605 180 184 70 57 68 0.031 11514 chr12 26806955 26806955 G A rs2230380 ITPR2 Synonymous SNV A898A 0.188 0.203 0.146 68 221 78 0.174 43 16 9 3 7 10.66 11515 chr2 219144815 219144815 T C rs2045435 TMBIM1 Synonymous SNV A79A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.093 11516 chr12 14664595 14664595 A G rs10846013 PLBD1 Synonymous SNV L299L 0.264 0.255 0.31 99 310 98 0.254 91 44 15 13 13 0.081 11517 chr12 26811045 26811045 T C rs12313993 ITPR2 Synonymous SNV S635S 0.236 0.164 0.235 98 277 63 0.251 69 34 6 7 16 7.358 11518 chr2 219146803 219146803 G A rs2292553 TMBIM1 Nonsynonymous SNV P21L 0.481 0.448 0.401 166 565 172 0.426 118 161 44 43 41 9.057 11519 chr13 28367061 28367061 A G rs1231058 GSX1 Synonymous SNV L78L 0.786 0.773 0.752 306 923 297 0.785 221 358 108 91 121 5.604 11520 chr12 26868322 26868322 T C rs1900941 ITPR2 Synonymous SNV E255E 0.38 0.38 0.347 155 446 146 0.397 102 74 29 20 29 6.487 11521 chr12 15262179 15262179 G A rs1055151 RERG Synonymous SNV N136N 0.328 0.32 0.367 101 385 123 0.259 108 72 24 22 16 5.682 11522 chr13 28537317 28537317 G A rs1805107 CDX2 Nonsynonymous SNV P293S 0.797 0.799 0.837 309 936 307 0.792 246 380 127 105 128 16.2 11523 chr2 219231807 219231807 C T rs3845833 CATIP Synonymous SNV P283P 0.997 0.99 0.997 389 1170 380 0.997 293 583 188 146 194 10.02 11524 chr12 1590013 1590013 C T rs11613546 ERC1 Nonsynonymous SNV P1073L 0.364 0.365 0.364 140 427 140 0.359 107 74 25 22 24 2.662 11525 chr2 219232354 219232354 C A rs7608923 CATIP-AS1 0.555 0.544 0.629 215 652 209 0.551 185 193 57 59 66 8.136 11526 chr13 28636084 28636084 G A rs7338903 FLT3 Synonymous SNV D96D 0.976 0.984 0.983 387 1146 378 0.992 289 559 186 142 192 7.256 11527 chr2 219254622 219254622 A G rs2695342 SLC11A1 Synonymous SNV A275A 0.995 0.99 0.997 389 1168 380 0.997 293 581 188 146 194 2.125 11528 chr13 28883061 28883061 G A rs7993418 FLT1 Synonymous SNV Y1213Y 0.782 0.786 0.755 286 918 302 0.733 222 358 115 86 102 9.398 11529 chr12 27540204 27540204 A G rs71541528 ARNTL2 Nonsynonymous SNV K166R 0.043 0.076 0.017 14 50 29 0.036 5 1 0 0 0 10.34 11530 chr13 29898768 29898768 A C rs928661 MTUS2 Nonsynonymous SNV Q942P 0.856 0.88 0.85 342 1005 338 0.877 250 432 151 108 149 23.8 11531 chr2 219267781 219267781 C T rs2227255 CTDSP1 Synonymous SNV H133H 0.662 0.693 0.626 240 777 266 0.615 184 253 95 61 74 13.97 11532 chr2 190561060 190561060 A G rs113995284 ANKAR Nonsynonymous SNV K558R 0.022 0.018 0.044 11 26 7 0.028 13 2 0 0 0 15.93 11533 chr13 30091714 30091714 G A rs2482089 SLC7A1 Synonymous SNV L502L 0.994 0.997 0.98 386 1167 383 0.99 288 581 191 141 191 12.89 11534 chr2 219319657 219319657 A G rs6436058 USP37 Nonsynonymous SNV L979S 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 21.4 11535 chr13 30091819 30091819 G C rs2482090 SLC7A1 Synonymous SNV G467G 0.996 0.997 0.983 386 1169 383 0.99 289 582 191 142 191 0.627 11536 chr12 27641473 27641473 G A rs412978 SMCO2 Nonsynonymous SNV S198N 0.055 0.073 0.095 31 65 28 0.079 28 9 2 1 3 0.002 11537 chr13 30107067 30107067 G C rs2277451 SLC7A1 Synonymous SNV G141G 0.032 0.029 0.024 8 37 11 0.021 7 0 1 1 0 11.22 11538 chr13 31002373 31002373 G A rs2892546 UBE2L5 Synonymous SNV K82K 0.237 0.253 0.238 92 278 97 0.236 70 35 10 7 10 16.33 11539 chr2 219492924 219492924 T C rs612874 PLCD4 Synonymous SNV C315C 0.594 0.602 0.605 244 697 231 0.626 178 214 70 53 76 4.97 11540 chr13 31036681 31036681 A G rs1929606 HMGB1 Synonymous SNV Y155Y 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.039 11541 chr12 27648777 27648777 C T rs61997182 SMCO2 Synonymous SNV R274R 0.049 0.044 0.061 17 57 17 0.044 18 6 1 0 2 6.809 11542 chr2 219507166 219507166 G A rs114603798 ZNF142 Nonsynonymous SNV A1358V 0.033 0.055 0.027 7 39 21 0.018 8 1 0 0 0 22.9 11543 chr13 31221106 31221106 C T rs3742303 USPL1 Nonsynonymous SNV P55S 0.032 0.049 0.031 20 37 19 0.051 9 2 0 1 2 26.6 11544 chr12 27648786 27648786 A G rs306646 SMCO2 Synonymous SNV A277A 0.087 0.086 0.102 34 102 33 0.087 30 10 2 0 2 0.51 11545 chr2 190617700 190617700 T C rs16831960 OSGEPL1 Synonymous SNV A334A 0.055 0.036 0.105 30 64 14 0.077 31 2 0 0 2 14.28 11546 chr2 219508988 219508988 T C rs3770214 ZNF142 Nonsynonymous SNV S751G 0.663 0.656 0.656 261 778 252 0.669 193 260 83 62 88 0.001 11547 chr13 31231806 31231806 T C rs7984952 USPL1 Nonsynonymous SNV L202S 0.485 0.516 0.517 206 569 198 0.528 152 144 49 41 56 6.911 11548 chr12 27654898 27654898 C T rs61731840 SMCO2 Synonymous SNV T292T 0.336 0.299 0.293 125 394 115 0.321 86 74 20 14 24 10.2 11549 chr12 121764980 121764980 C T rs779233762 ANAPC5 Synonymous SNV A341A 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 18.61 11550 chr2 219509618 219509618 C A rs2230115 ZNF142 Nonsynonymous SNV A541S 0.595 0.604 0.609 244 698 232 0.626 179 215 71 54 76 9.639 11551 chr13 31233063 31233063 G A rs3742302 USPL1 Nonsynonymous SNV S621N 0.485 0.516 0.514 204 569 198 0.523 151 145 49 40 55 0.001 11552 chr12 133277835 133277835 G A rs148576668 PXMP2 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 23.9 11553 chr12 14976497 14976497 T C rs61920259 C12orf60 Synonymous SNV L210L 0.111 0.086 0.099 48 130 33 0.123 29 10 2 1 2 0.276 11554 chr13 31287979 31287979 - TA rs147763360 ALOX5AP 0.693 0.682 0.677 256 813 262 0.656 199 277 93 64 86 11555 chr2 219544388 219544388 A G rs1863703 STK36 Nonsynonymous SNV K295R 0.103 0.083 0.058 31 121 32 0.079 17 7 1 1 2 12.01 11556 chr13 31480827 31480827 A G rs9531945 MEDAG Nonsynonymous SNV R59G 1 1 0.983 389 1174 384 0.997 289 587 192 143 194 0.029 11557 chr12 125263061 125263061 C T rs3825140 SCARB1 Synonymous SNV P425P 0.006 0 0 2 7 0 0.005 0 0 0 0 0 5.233 11558 chr2 219553468 219553468 C T rs16859180 STK36 Nonsynonymous SNV R477W 0.088 0.073 0.044 23 103 28 0.059 13 4 0 0 1 35 11559 chr13 31725260 31725260 A G rs11556147 HSPH1 Synonymous SNV F168F 0.446 0.466 0.412 195 524 179 0.5 121 113 43 22 48 0.177 11560 chr13 31729729 31729729 A G rs1047086 HSPH1 Synonymous SNV N76N 0.447 0.466 0.415 195 525 179 0.5 122 114 43 22 48 7.408 11561 chr12 129559086 129559086 C A rs555131 TMEM132D Nonsynonymous SNV L878F 0.02 0.016 0.02 4 24 6 0.01 6 1 0 0 0 0.046 11562 chr2 191379268 191379268 G A rs4586658 NEMP2 Synonymous SNV A288A 0.458 0.482 0.432 168 538 185 0.431 127 119 45 25 37 15.03 11563 chr13 31821992 31821992 T C rs4943266 B3GLCT Synonymous SNV H116H 0.997 0.979 0.973 387 1171 376 0.992 286 585 184 141 193 Benign 0.805 11564 chr12 2062323 2062323 - TGC rs111543431 DCP1B Q261_E262insQ 0.46 0.471 0.476 162 540 181 0.415 140 112 40 31 28 11565 chr2 219555262 219555262 G A rs1344642 STK36 Nonsynonymous SNV R583Q 0.437 0.419 0.408 159 513 161 0.408 120 119 35 25 31 Benign 15.45 11566 chr12 28605426 28605426 G A rs10771427 CCDC91 Nonsynonymous SNV V152M 0.756 0.74 0.48 300 888 284 0.769 141 341 106 56 113 9.094 11567 chr2 192160839 192160839 A T rs4853574 MYO1B Synonymous SNV T46T 0.474 0.417 0.398 195 556 160 0.5 117 129 34 30 49 10.87 11568 chr13 31891746 31891746 G A rs1041073 B3GLCT Nonsynonymous SNV E370K 0.815 0.818 0.782 330 957 314 0.846 230 386 128 89 136 Benign 22.4 11569 chr12 125298877 125298877 G A rs5889 SCARB1 Synonymous SNV G167G 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 7.945 11570 chr2 192160875 192160875 C T rs4853575 MYO1B Synonymous SNV Y58Y 0.474 0.417 0.425 195 556 160 0.5 125 129 34 30 49 12.62 11571 chr2 219563602 219563602 G A rs12993599 STK36 Nonsynonymous SNV R1091Q 0.09 0.073 0.048 23 106 28 0.059 14 4 0 0 1 14.18 11572 chr13 32906729 32906729 A C rs144848 BRCA2 Nonsynonymous SNV N372H 0.283 0.289 0.259 96 332 111 0.246 76 34 18 7 12 Benign 0.009 11573 chr2 219602499 219602499 G C rs3731877 TTLL4 Nonsynonymous SNV E34Q 0.468 0.461 0.415 168 550 177 0.431 122 137 42 25 36 17.22 11574 chr12 20905250 20905250 C T rs6487138 SLCO1C1 Nonsynonymous SNV S559F 0.426 0.443 0.463 171 500 170 0.438 136 103 37 34 41 25.3 11575 chr13 32913055 32913055 A G rs206075 BRCA2 Synonymous SNV L1521L 0.997 1 0.993 389 1171 384 0.997 292 584 192 145 194 Benign 0.136 11576 chr13 32915005 32915005 G C rs206076 BRCA2 Synonymous SNV V2171V 0.999 1 0.986 389 1173 384 0.997 290 586 192 144 194 Benign 1.152 11577 chr2 219602819 219602819 G A rs3731876 TTLL4 Synonymous SNV P140P 0.47 0.464 0.425 168 552 178 0.431 125 138 42 28 36 0.876 11578 chr13 32929387 32929387 T C rs169547 BRCA2 Nonsynonymous SNV V2466A 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 Benign 0.372 11579 chr2 219610433 219610433 A G rs586194 TTLL4 Synonymous SNV E602E 0.469 0.464 0.425 168 551 178 0.431 125 138 42 28 36 6.782 11580 chr2 192711385 192711385 G A rs35883486 CAVIN2 Synonymous SNV S89S 0.032 0.042 0.041 14 38 16 0.036 12 0 0 0 0 13.92 11581 chr2 219691801 219691801 G A rs33985460 PRKAG3 Nonsynonymous SNV R340W 0.078 0.076 0.102 38 91 29 0.097 30 2 0 0 2 34 11582 chr13 33232435 33232435 A G rs2301393 PDS5B Synonymous SNV Q124Q 0.394 0.414 0.449 166 462 159 0.426 132 102 43 32 40 5.964 11583 chr12 29631772 29631772 A G rs371182932 OVCH1 Synonymous SNV L403L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.004 11584 chr13 33590851 33590851 T C rs2772364 KL Synonymous SNV D91D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 2.529 11585 chr12 15669737 15669737 T C rs1050646 PTPRO Synonymous SNV G542G 0.178 0.229 0.207 70 209 88 0.179 61 18 10 7 4 1.244 11586 chr12 29639186 29639186 T C rs3847680 OVCH1 Nonsynonymous SNV K330E 0.599 0.599 0.612 243 703 230 0.623 180 210 73 57 76 0.002 11587 chr12 12247793 12247793 A T rs61739220 BCL2L14 Nonsynonymous SNV R292W 0.028 0.023 0.027 11 33 9 0.028 8 0 0 0 0 27.9 11588 chr13 33635463 33635463 T C rs648202 KL Synonymous SNV A749A 0.871 0.828 0.83 338 1022 318 0.867 244 444 134 103 145 Benign 0.009 11589 chr2 219892233 219892233 T A rs61749573 CFAP65 Nonsynonymous SNV T719S 0.179 0.195 0.18 73 210 75 0.187 53 17 10 3 4 3.886 11590 chr13 33635835 33635835 T C rs649964 KL Synonymous SNV N873N 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 0.044 11591 chr12 29642573 29642573 A C rs967181 OVCH1 Nonsynonymous SNV W228G 0.431 0.43 0.497 174 506 165 0.446 146 102 39 37 37 0.001 11592 chr13 33700374 33700374 T G rs1980781 STARD13 Synonymous SNV S634S 0.196 0.19 0.194 75 230 73 0.192 57 25 5 5 6 11.29 11593 chr2 219903258 219903258 T G rs6736922 CFAP65 Star tloss M2del 0.728 0.716 0.745 288 855 275 0.738 219 307 101 85 102 0.001 11594 chr13 33703656 33703656 T C rs495680 STARD13 Synonymous SNV E378E 0.559 0.51 0.558 230 656 196 0.59 164 182 48 45 60 0.013 11595 chr12 29648275 29648275 G A rs10843438 OVCH1 Nonsynonymous SNV R133C 0.549 0.565 0.561 226 645 217 0.579 165 170 62 50 64 12.28 11596 chr13 33704065 33704065 T C rs3742321 STARD13 Nonsynonymous SNV K242R 0.196 0.19 0.19 76 230 73 0.195 56 25 5 5 6 15.56 11597 chr2 219903723 219903723 C T rs4674354 CFAP65 Synonymous SNV V16V 0.726 0.716 0.745 288 852 275 0.738 219 306 101 85 102 0.754 11598 chr12 125438712 125438712 C A rs11829165 DHX37 Synonymous SNV R833R 0.046 0.039 0.061 17 54 15 0.044 18 2 0 2 0 15.51 11599 chr2 219920037 219920037 A G rs394452 IHH Synonymous SNV T376T 0.747 0.737 0.799 307 877 283 0.787 235 326 106 95 117 Benign 0.056 11600 chr13 36385031 36385031 G T rs2322807 DCLK1 Synonymous SNV P236P 0.22 0.234 0.276 87 258 90 0.223 81 28 11 17 9 8.072 11601 chr12 18473928 18473928 T C rs12309666 PIK3C2G Synonymous SNV N390N 0.124 0.094 0.126 37 146 36 0.095 37 6 1 2 1 1.065 11602 chr13 36402426 36402426 A G rs2296645 DCLK1 Synonymous SNV Y109Y 0.516 0.552 0.483 203 606 212 0.521 142 152 60 44 56 6.336 11603 chr2 219920412 219920412 A G rs3731881 IHH Synonymous SNV P251P 0.62 0.589 0.673 253 728 226 0.649 198 219 71 65 74 Benign 1.366 11604 chr12 18499636 18499636 C T rs17847788 PIK3C2G Synonymous SNV Y497Y 0.103 0.073 0.105 24 121 28 0.062 31 5 1 1 0 9.549 11605 chr13 36686138 36686138 T C rs3748308 DCLK1 Synonymous SNV P197P 0.3 0.289 0.272 99 352 111 0.254 80 46 19 13 10 4.746 11606 chr12 2997299 2997299 G C RHNO1 Nonsynonymous SNV V131L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.106 11607 chr2 220037393 220037393 A G rs4674361 CNPPD1 Nonsynonymous SNV L383P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 2.242 11608 chr13 36744800 36744800 G A rs2296967 CCDC169-SOHLH2, SOHLH2 Synonymous SNV Y375Y 0.142 0.115 0.139 49 167 44 0.126 41 10 3 4 4 0.376 11609 chr12 21331549 21331549 T C rs4149056 SLCO1B1 Nonsynonymous SNV V174A 0.189 0.146 0.139 90 222 56 0.231 41 17 4 3 10 drug response 22.9 11610 chr13 37580139 37580139 G A rs1127446 EXOSC8 Synonymous SNV Q107Q 0.345 0.401 0.408 139 405 154 0.356 120 69 35 27 25 Benign 4.094 11611 chr12 1890199 1890199 G A rs16928751 ADIPOR2 Synonymous SNV Q265Q 0.098 0.115 0.088 55 115 44 0.141 26 4 1 0 3 7.862 11612 chr13 37583831 37583831 G A rs9469 SUPT20H Nonsynonymous SNV T773M 0.345 0.401 0.408 139 405 154 0.356 120 69 35 27 25 13.41 11613 chr2 220037666 220037666 A G rs1127102 CNPPD1 Nonsynonymous SNV L292P 0.555 0.578 0.633 237 651 222 0.608 186 174 65 61 66 2.832 11614 chr2 197946392 197946392 C T rs35272229 ANKRD44 Synonymous SNV E505E 0.063 0.057 0.041 27 74 22 0.069 12 6 0 0 1 13.44 11615 chr12 1893077 1893077 C A rs35854772 ADIPOR2 Synonymous SNV I290I 0.098 0.115 0.088 55 115 44 0.141 26 4 1 0 3 21.2 11616 chr13 37679268 37679268 G T rs9576175 CSNK1A1L Nonsynonymous SNV D42E 0.486 0.492 0.541 195 570 189 0.5 159 129 47 41 45 0.311 11617 chr12 122674825 122674825 A G rs138172345 LRRC43 Nonsynonymous SNV I271V 0.01 0.008 0.014 5 12 3 0.013 4 0 0 0 0 0.01 11618 chr12 21391976 21391976 A C rs34671512 SLCO1B1 Nonsynonymous SNV L643F 0.074 0.073 0.027 25 87 28 0.064 8 2 1 0 0 Benign 3.415 11619 chr2 197990741 197990741 A C rs35338671 ANKRD44 Nonsynonymous SNV I94M 0.059 0.055 0.041 26 69 21 0.067 12 7 0 0 1 23.1 11620 chr12 1893170 1893170 C T rs9805042 ADIPOR2 Synonymous SNV Y321Y 0.122 0.13 0.102 67 143 50 0.172 30 7 2 2 6 10.7 11621 chr2 220037756 220037756 A G rs1043160 CNPPD1 Nonsynonymous SNV I262T 0.561 0.581 0.643 238 659 223 0.61 189 179 66 62 66 0.129 11622 chr12 1937325 1937325 C T rs763791887 LRTM2 Nonsynonymous SNV P4L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.483 11623 chr2 198001319 198001319 A G rs3731569 ANKRD44 Synonymous SNV S86S 0.261 0.289 0.252 107 306 111 0.274 74 38 15 4 16 2.937 11624 chr13 38924263 38924263 T C rs2231332 UFM1 Synonymous SNV A4A 0.951 0.945 0.949 360 1116 363 0.923 279 530 172 132 167 4.929 11625 chr2 220040330 220040330 A G rs1127101 CNPPD1 Synonymous SNV Y81Y 0.555 0.581 0.633 237 652 223 0.608 186 175 66 61 66 0.091 11626 chr12 31135579 31135579 T C rs2075333 TSPAN11 Nonsynonymous SNV V180A 0.62 0.591 0.568 231 728 227 0.592 167 221 65 57 69 0.001 11627 chr12 132250712 132250712 G C rs1051233 SFSWAP Synonymous SNV L667L 0.203 0.19 0.224 86 238 73 0.221 66 25 5 9 12 10.38 11628 chr13 39262057 39262057 G A rs1868464 FREM2 Synonymous SNV E192E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 5.826 11629 chr2 220046975 220046975 C A rs3731900 RETREG2 Nonsynonymous SNV P212Q 0.578 0.604 0.636 245 678 232 0.628 187 190 71 62 69 4.907 11630 chr13 39263714 39263714 T C rs2496423 FREM2 Nonsynonymous SNV S745P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 5.977 11631 chr2 220083279 220083279 C T rs1109866 ABCB6 Synonymous SNV L39L 0.871 0.865 0.84 345 1023 332 0.885 247 444 143 104 154 7.576 11632 chr13 39266484 39266484 G A rs1868463 FREM2 Nonsynonymous SNV R1668H 0.106 0.099 0.102 38 124 38 0.097 30 6 2 2 1 Benign 32 11633 chr12 122862233 122862233 T C rs139445702 CLIP1 Synonymous SNV R120R 0.03 0.018 0.041 11 35 7 0.028 12 1 0 1 0 4.166 11634 chr2 220085845 220085845 A G rs2276633 ATG9A Synonymous SNV T775T 0.988 0.987 0.986 387 1160 379 0.992 290 573 187 143 192 1.726 11635 chr13 39433606 39433606 A G rs9532292 FREM2 Synonymous SNV T2466T 0.369 0.336 0.303 147 433 129 0.377 89 79 27 14 30 Benign 0.549 11636 chr2 220087088 220087088 T G rs146429396 ATG9A Synonymous SNV R645R 0.015 0.013 0.014 7 18 5 0.018 4 0 0 1 0 8.391 11637 chr12 31815167 31815167 G T rs61736289 ETFBKMT Nonsynonymous SNV A94S 0.054 0.091 0.068 34 63 35 0.087 20 1 1 0 1 25.2 11638 chr13 40229891 40229891 G A rs3812882 COG6 Nonsynonymous SNV A10T 0.458 0.406 0.473 169 538 156 0.433 139 118 29 36 39 Benign 22.9 11639 chr2 220113242 220113242 T G rs7601549 STK16 Synonymous SNV L261L 1 1 0.99 388 1174 384 0.995 291 587 192 144 193 0.008 11640 chr12 20522514 20522514 A C rs201132768 PDE3A Nonsynonymous SNV E99A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.086 11641 chr12 319111 319111 T C rs526690 SLC6A12 Synonymous SNV A14A 0.529 0.531 0.483 208 621 204 0.533 142 162 50 34 56 0.02 11642 chr12 22678582 22678582 C T rs139822705 C2CD5 Nonsynonymous SNV R136Q 0.009 0.005 0 8 11 2 0.021 0 0 0 0 0 24.2 11643 chr2 220136155 220136155 T C rs7594971 TUBA4B Nonsynonymous SNV C154R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.126 11644 chr13 40229957 40229957 T A rs3812883 COG6 Nonsynonymous SNV C32S 0.458 0.406 0.469 170 538 156 0.436 138 118 29 36 39 Benign 0.074 11645 chr12 319125 319125 A G rs557881 SLC6A12 Nonsynonymous SNV C10R 0.528 0.531 0.473 208 620 204 0.533 139 161 50 34 56 0.026 11646 chr2 220136351 220136351 G A rs3731892 TUBA4B Nonsynonymous SNV R219K 0.851 0.846 0.813 339 999 325 0.869 239 425 136 98 148 1.106 11647 chr13 40238175 40238175 C T rs67976778 MIR4305 0 0 0.473 0 0 0 0 139 0 0 34 0 5.484 11648 chr2 220136371 220136371 T C rs3731894 TUBA4B Nonsynonymous SNV W226R 0.888 0.875 0.84 348 1042 336 0.892 247 461 147 104 156 0.1 11649 chr13 41515286 41515286 T A rs1056820 ELF1 Nonsynonymous SNV T319S 0.687 0.706 0.735 262 806 271 0.672 216 286 100 76 88 12.98 11650 chr12 32134207 32134207 C A rs2388981 RESF1 Nonsynonymous SNV H106Q 0.215 0.172 0.187 89 252 66 0.228 55 26 6 4 14 0.001 11651 chr2 220250147 220250147 A G rs907679 DNPEP Nonsynonymous SNV V266A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.11 11652 chr2 201355106 201355106 G A rs13018579 KCTD18 Nonsynonymous SNV A333V 0.239 0.258 0.286 115 280 99 0.295 84 37 14 13 19 10.71 11653 chr13 41517985 41517985 A G rs3764056 ELF1 Synonymous SNV D178D 0.686 0.703 0.735 262 805 270 0.672 216 285 99 76 88 7.314 11654 chr2 220250232 220250232 G C rs115897075 DNPEP Nonsynonymous SNV L238V 0.008 0.008 0.007 6 9 3 0.015 2 0 0 0 0 24.8 11655 chr12 123285957 123285957 G A rs148126897 CCDC62 Nonsynonymous SNV E422K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 21.4 11656 chr13 41533052 41533052 T C rs7799 ELF1 Nonsynonymous SNV N58S 0.722 0.727 0.755 269 848 279 0.69 222 313 102 80 93 11.32 11657 chr2 201437214 201437214 A G rs17532679 SGO2 Synonymous SNV K715K 0.207 0.214 0.17 88 243 82 0.226 50 24 8 6 8 2.194 11658 chr2 220251685 220251685 T G rs11539909 DNPEP Nonsynonymous SNV N58H 0.02 0.029 0.024 12 23 11 0.031 7 0 0 0 0 16.37 11659 chr13 41705495 41705495 A G rs584594 KBTBD6 Synonymous SNV L385L 0.997 0.997 0.99 384 1170 383 0.985 291 583 191 144 189 0.004 11660 chr2 201437328 201437328 C A rs35987478 SGO2 Synonymous SNV I753I 0.276 0.302 0.306 108 324 116 0.277 90 41 20 10 19 15.28 11661 chr13 41767338 41767338 A G rs2039134 KBTBD7 Synonymous SNV P352P 0.871 0.862 0.844 318 1023 331 0.815 248 443 144 109 130 0.026 11662 chr12 32135186 32135186 T A rs3759302 RESF1 Nonsynonymous SNV S433T 0.215 0.172 0.187 88 252 66 0.226 55 27 6 4 14 9.993 11663 chr2 220283259 220283259 A G rs1318299 DES Synonymous SNV P25P 0.991 0.997 0.908 387 1163 383 0.992 267 576 191 132 192 Benign 0.585 11664 chr13 41767341 41767341 A G rs2039135 KBTBD7 Synonymous SNV H351H 0.871 0.862 0.844 318 1023 331 0.815 248 443 144 109 130 0.01 11665 chr13 41902939 41902939 T C rs3812896 NAA16 Synonymous SNV N257N 0.92 0.911 0.915 364 1080 350 0.933 269 496 159 127 170 2.126 11666 chr2 220283277 220283277 T C rs2017800 DES Synonymous SNV S31S 0.991 0.995 0.918 387 1163 382 0.992 270 576 190 133 192 Benign 7.108 11667 chr13 42032572 42032572 T C rs7136 RGCC Synonymous SNV S67S 0.341 0.31 0.374 136 400 119 0.349 110 69 15 19 15 11.32 11668 chr2 220285309 220285309 C T rs1058261 DES Synonymous SNV D276D 0.385 0.438 0.357 162 452 168 0.415 105 82 36 24 38 Benign 15.07 11669 chr13 42772717 42772717 G T rs9533031 DGKH Synonymous SNV P512P 0.516 0.536 0.51 209 606 206 0.536 150 158 59 39 58 4.465 11670 chr2 220285666 220285666 G C rs12920 DES Synonymous SNV L338L 0.385 0.438 0.357 162 452 168 0.415 105 82 36 24 38 Benign 9.741 11671 chr13 42793479 42793479 G A rs180870 DGKH Synonymous SNV E864E 0.649 0.656 0.66 268 762 252 0.687 194 246 83 61 90 9.725 11672 chr12 32137565 32137565 G A rs1057994 RESF1 Nonsynonymous SNV V1226I 0.212 0.174 0.187 88 249 67 0.226 55 25 6 4 14 0.002 11673 chr12 21028208 21028208 G C rs60140950 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV G228A 0.218 0.229 0.014 83 256 88 0.213 4 28 10 2 6 Benign 23.8 11674 chr13 43148565 43148565 T C rs2296533 TNFSF11 Synonymous SNV P42P 0.369 0.37 0.357 136 433 142 0.349 105 86 25 21 24 Benign 6.423 11675 chr2 220286142 220286142 G A rs1058284 DES Synonymous SNV A368A 0.385 0.438 0.357 161 452 168 0.413 105 82 36 24 38 Benign 8.482 11676 chr13 43462422 43462422 A T rs1044856 EPSTI1 Nonsynonymous SNV N399K 0.392 0.414 0.439 144 460 159 0.369 129 99 30 30 31 23.8 11677 chr12 32137852 32137852 C G rs3759297 RESF1 Synonymous SNV T1321T 0.212 0.174 0.187 88 249 67 0.226 55 26 6 4 14 9.359 11678 chr2 220315970 220315970 G A rs10932806 SPEG Synonymous SNV K742K 0.454 0.492 0.497 179 533 189 0.459 146 122 46 33 47 12.22 11679 chr12 25656706 25656706 T C rs78120781 LMNTD1 Synonymous SNV S322S 0.06 0.065 0.071 25 70 25 0.064 21 3 1 0 0 0.268 11680 chr12 32481093 32481093 G C rs3748275 BICD1 Synonymous SNV V568V 0.174 0.188 0.163 60 204 72 0.154 48 20 5 5 4 Benign 6.627 11681 chr2 220331911 220331911 G A rs34861443 SPEG Nonsynonymous SNV R966Q 0.021 0.018 0.024 9 25 7 0.023 7 0 0 0 0 22.3 11682 chr13 43597865 43597865 A G rs12015 DNAJC15 Nonsynonymous SNV R35G 0.221 0.198 0.224 82 260 76 0.21 66 31 11 12 11 4.051 11683 chr12 133202816 133202816 C T rs5745066 POLE Nonsynonymous SNV E2140K 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 Benign/Likely benign 23.8 11684 chr12 32552769 32552769 C G rs2651369 FGD4 Nonsynonymous SNV I41M 0.323 0.31 0.204 117 379 119 0.3 60 64 17 12 17 Benign 21.1 11685 chr13 43788158 43788158 G A rs703207 ENOX1 Synonymous SNV L669L 0.889 0.883 0.867 339 1044 339 0.869 255 459 149 111 147 7.554 11686 chr12 133245256 133245256 T G POLE Nonsynonymous SNV Q664P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 26.8 11687 chr2 220333950 220333950 T C rs10167209 SPEG Synonymous SNV P1188P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.383 11688 chr12 32735236 32735236 C T rs904582 FGD4 Synonymous SNV D52D 0.424 0.484 0.463 171 498 186 0.438 136 109 43 33 38 Benign 4.311 11689 chr13 45563464 45563464 G C rs1140993 NUFIP1 Nonsynonymous SNV S36R 0.773 0.813 0.745 298 908 312 0.764 219 341 130 81 114 13.55 11690 chr12 21196424 21196424 T A rs11045676 SLCO1B7 Nonsynonymous SNV F248Y 0.229 0.242 0.19 84 269 93 0.215 56 33 11 13 5 0.041 11691 chr12 32791796 32791796 G A rs4575368 FGD4 Nonsynonymous SNV G456R 0.113 0.133 0.129 49 133 51 0.126 38 7 2 2 5 3.3 11692 chr2 220362899 220362899 C G rs2029251 SPEGNB Synonymous SNV V235V 0.993 0.995 0.98 388 1166 382 0.995 288 579 190 142 193 12.33 11693 chr12 130892273 130892273 C T rs148542555 RIMBP2 Nonsynonymous SNV E975K 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 33 11694 chr13 45841502 45841502 G A rs7331090 GTF2F2 Synonymous SNV K207K 0.282 0.289 0.279 105 331 111 0.269 82 46 14 12 14 11.17 11695 chr12 122691831 122691831 C G B3GNT4 Nonsynonymous SNV L320V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 25 11696 chr12 21200089 21200089 A G rs11045681 SLCO1B7 Nonsynonymous SNV Y311C 0.228 0.24 0.204 84 268 92 0.215 60 32 11 13 5 23.6 11697 chr13 46077381 46077381 G A rs3014960 COG3 Synonymous SNV Q497Q 0.921 0.901 0.85 353 1081 346 0.905 250 500 154 109 159 12.53 11698 chr2 220379560 220379560 C G rs3731909 ASIC4 Synonymous SNV A165A 0.613 0.594 0.609 249 720 228 0.638 179 223 71 55 83 1.722 11699 chr13 46103935 46103935 A G rs2274285 COG3 Nonsynonymous SNV N747S 0.818 0.802 0.786 322 960 308 0.826 231 399 125 90 130 0.002 11700 chr2 220399951 220399951 A G rs2276643 ASIC4 Synonymous SNV T486T 0.149 0.148 0.19 55 175 57 0.141 56 12 4 8 3 0.017 11701 chr12 130935740 130935740 G A rs150717208 RIMBP2 Synonymous SNV D151D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.61 11702 chr12 21207389 21207389 T C rs11045699 SLCO1B7 Nonsynonymous SNV F454L 0.224 0.24 0.156 83 263 92 0.213 46 32 11 12 5 23.8 11703 chr2 220402665 220402665 C A rs6436153 ASIC4 Nonsynonymous SNV P614Q 0.142 0.141 0.173 53 167 54 0.136 51 11 3 6 3 10.6 11704 chr13 46108853 46108853 T C rs3014902 COG3 Nonsynonymous SNV L825S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.029 11705 chr12 122817580 122817580 A G rs17883517 CLIP1 Nonsynonymous SNV S895P 0.088 0.107 0.105 35 103 41 0.09 31 4 4 3 0 31 11706 chr12 40499594 40499594 C T rs139518863 SLC2A13 Nonsynonymous SNV S6N 0.048 0.057 0.048 19 56 22 0.049 14 3 1 0 1 23.5 11707 chr2 220404381 220404381 A G rs1976616 CHPF Synonymous SNV Y522Y 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 0.001 11708 chr13 46108854 46108854 G A rs2985989 COG3 Synonymous SNV L825L 0.867 0.857 0.847 343 1018 329 0.879 249 445 141 104 150 4.566 11709 chr12 27068983 27068983 A T rs35037404 INTS13 Synonymous SNV P400P 0.02 0.01 0.02 7 23 4 0.018 6 0 0 0 0 5.782 11710 chr13 46641481 46641481 T C rs7337140 CPB2 Synonymous SNV P221P 0.653 0.661 0.65 290 767 254 0.744 191 238 89 60 108 0.022 11711 chr2 220404648 220404648 C T rs1043833 CHPF Synonymous SNV L433L 0.393 0.365 0.425 148 461 140 0.379 125 79 27 24 28 8.936 11712 chr2 202356749 202356749 T C rs75689388 C2CD6 Nonsynonymous SNV K1439E 0.031 0.021 0.048 18 36 8 0.046 14 2 0 0 0 12.22 11713 chr12 1553797 1553797 A G rs12319376 ERC1 Nonsynonymous SNV T1032A 0.052 0.073 0.051 22 61 28 0.056 15 2 0 1 1 15.81 11714 chr13 46656669 46656669 A G rs2296642 CPB2 Synonymous SNV D97D 0.653 0.661 0.65 291 767 254 0.746 191 238 89 59 109 0.071 11715 chr2 220404726 220404726 G A rs1043832 CHPF Synonymous SNV H407H 0.393 0.365 0.415 147 461 140 0.377 122 79 27 23 28 9.142 11716 chr13 46708291 46708291 T C rs4941543 LCP1 Nonsynonymous SNV K533E 0.876 0.896 0.878 340 1028 344 0.872 258 455 152 114 146 1.531 11717 chr12 40713834 40713834 C A rs1427263 LRRK2 Synonymous SNV G1624G 0.575 0.604 0.585 232 675 232 0.595 172 201 79 50 73 Benign 14.55 11718 chr2 220405230 220405230 G A rs6436154 CHPF Synonymous SNV H239H 0.394 0.365 0.429 148 463 140 0.379 126 80 27 24 28 1.177 11719 chr12 123270277 123270277 A C rs144393165 CCDC62 Nonsynonymous SNV E136D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.57 11720 chr12 40713873 40713873 A G rs11176013 LRRK2 Synonymous SNV K1637K 0.481 0.5 0.493 200 565 192 0.513 145 130 47 36 53 Benign 0.051 11721 chr2 220405321 220405321 T C rs6436155 CHPF Nonsynonymous SNV Q209R 0.997 1 0.993 389 1171 384 0.997 292 584 192 145 194 0.006 11722 chr13 46917469 46917469 G A rs2478046 RUBCNL Nonsynonymous SNV P629L 0.104 0.099 0.122 35 122 38 0.09 36 7 2 4 1 6.66 11723 chr12 124241506 124241506 C T rs17883456 ATP6V0A2 Nonsynonymous SNV A813V 0.052 0.057 0.014 18 61 22 0.046 4 0 1 0 1 Benign 35 11724 chr12 40716260 40716260 T C rs10878371 LRRK2 Synonymous SNV G1819G 0.491 0.5 0.497 201 577 192 0.515 146 130 47 36 52 Benign 0.276 11725 chr12 274696 274696 - AGTGTAAGTCTTTGACAGCC rs547194479 IQSEC3 Frameshift insertion Y634Cfs*16 0.048 0.042 0.034 13 56 16 0.033 10 3 0 1 1 11726 chr2 220406722 220406722 T C rs3731912 CHPF Synonymous SNV L6L 0.744 0.786 0.731 288 874 302 0.738 215 320 119 74 105 8.662 11727 chr13 46946157 46946157 C T rs1408184 RUBCNL Nonsynonymous SNV G152R 0.34 0.32 0.344 147 399 123 0.377 101 68 19 18 24 4.251 11728 chr12 40740686 40740686 A G rs33995883 LRRK2 Nonsynonymous SNV N2081D 0.049 0.065 0.058 14 58 25 0.036 17 3 1 0 1 Benign 24.7 11729 chr2 220412256 220412256 T C rs8179770 TMEM198 Synonymous SNV F65F 0.997 1 0.925 389 1171 384 0.997 272 584 192 135 194 13.07 11730 chr2 220414016 220414016 C T rs6436156 TMEM198 Synonymous SNV D295D 0.994 0.995 0.983 387 1167 382 0.992 289 580 190 142 192 13.97 11731 chr12 123465695 123465695 C A ARL6IP4 Nonsynonymous SNV H187Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 24.7 11732 chr12 40758652 40758652 T C rs3761863 LRRK2 Nonsynonymous SNV M2397T 0.517 0.565 0.554 223 607 217 0.572 163 185 72 46 68 Benign 0.005 11733 chr13 47260054 47260054 T C rs842381 LRCH1 Nonsynonymous SNV S234P 0.975 0.982 0.997 383 1145 377 0.982 293 572 188 146 191 14.73 11734 chr12 22796804 22796804 C T rs117802803 ETNK1 Synonymous SNV V88V 0.034 0.018 0.02 8 40 7 0.021 6 1 0 0 0 15.21 11735 chr2 220414019 220414019 T C rs13023533 TMEM198 Synonymous SNV P296P 0.394 0.362 0.418 150 462 139 0.385 123 80 27 22 31 7.418 11736 chr2 220417266 220417266 C T rs59332477 OBSL1 Nonsynonymous SNV R1767Q 0.392 0.357 0.415 149 460 137 0.382 122 80 27 22 30 Benign 35 11737 chr13 47308109 47308109 A G rs2298086 LRCH1 Synonymous SNV A652A 0.989 1 0.966 385 1161 384 0.987 284 578 192 139 192 11.19 11738 chr12 40815007 40815007 C G rs80212515 MUC19 0.043 0.06 0.054 13 50 23 0.033 16 3 1 0 1 8.922 11739 chr13 47409034 47409034 G A rs6314 HTR2A Nonsynonymous SNV H368Y 0.08 0.099 0.122 28 94 38 0.072 36 3 4 2 0 0.047 11740 chr2 220419236 220419236 T C rs10932813 OBSL1 Synonymous SNV T1612T 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 Benign 6.803 11741 chr12 41337435 41337435 C T rs1056019 CNTN1 Synonymous SNV N461N 0.648 0.664 0.677 246 761 255 0.631 199 234 79 67 74 Benign 2.867 11742 chr13 47469940 47469940 G A rs6313 HTR2A Synonymous SNV S34S 0.473 0.469 0.527 182 555 180 0.467 155 129 39 39 44 Likely benign 14.2 11743 chr2 220419339 220419339 T C rs10932814 OBSL1 Nonsynonymous SNV Q1578R 0.994 1 0.983 386 1167 384 0.99 289 580 192 142 191 Benign 7.193 11744 chr12 18656225 18656225 G A rs11044142 PIK3C2G Synonymous SNV Q968Q 0.198 0.211 0.211 74 232 81 0.19 62 16 13 6 6 1.578 11745 chr13 47470824 47470824 C T rs6312 HTR2A Nonsynonymous SNV D49N 0.899 0.888 0.929 341 1055 341 0.874 273 471 151 128 150 18.01 11746 chr2 220420785 220420785 G A rs3087971 OBSL1 Synonymous SNV C1522C 0.248 0.208 0.248 96 291 80 0.246 73 32 9 6 10 Benign 8.371 11747 chr13 48547467 48547467 A T rs7320366 SUCLA2 Nonsynonymous SNV S199T 0.799 0.763 0.799 323 938 293 0.828 235 378 116 92 133 Benign 14.64 11748 chr2 220420956 220420956 A G rs10932816 OBSL1 Synonymous SNV D1465D 0.997 1 0.99 389 1171 384 0.997 291 584 192 144 194 Benign 0.259 11749 chr12 13720043 13720043 G A rs3026160 GRIN2B Synonymous SNV C838C 0.075 0.068 0.085 33 88 26 0.085 25 6 0 2 1 Benign 10.09 11750 chr12 41966771 41966771 G A rs113916113 PDZRN4 Synonymous SNV K472K 0.011 0.008 0.003 9 13 3 0.023 1 0 0 0 0 8.187 11751 chr12 25157487 25157487 C T rs58990176 LOC645177 Nonsynonymous SNV T71M 0.023 0.018 0 11 27 7 0.028 0 0 0 0 0 4.422 11752 chr13 49951142 49951142 T C rs8002829 CAB39L Synonymous SNV L79L 0.572 0.563 0.605 233 672 216 0.597 178 185 65 54 70 4.876 11753 chr2 202964517 202964517 G C rs10197514 KIAA2012 Nonsynonymous SNV S337T 0.164 0.164 0.167 71 192 63 0.182 49 22 6 7 5 0.223 11754 chr12 25158193 25158193 A G rs859136 LOC645177 Nonsynonymous SNV D198G 0.094 0.089 0 35 110 34 0.09 0 3 4 0 2 1.871 11755 chr12 123915089 123915089 G C rs144742334 RILPL2 Nonsynonymous SNV L153V 0.005 0.01 0.003 5 6 4 0.013 1 0 0 0 0 25 11756 chr13 49951193 49951193 T C rs8002858 CAB39L Synonymous SNV P62P 0.573 0.563 0.605 233 673 216 0.597 178 185 65 54 70 0.002 11757 chr12 41967677 41967677 G A rs3747556 PDZRN4 Synonymous SNV S774S 0.134 0.141 0.119 41 157 54 0.105 35 10 4 2 2 5.379 11758 chr2 220421417 220421417 C G rs1983210 OBSL1 Nonsynonymous SNV E1365D 0.757 0.794 0.735 295 889 305 0.756 216 333 121 75 110 Benign 24.5 11759 chr12 25158240 25158240 G C rs12304147 LOC645177 Nonsynonymous SNV E214Q 0.02 0.016 0 11 23 6 0.028 0 0 0 0 0 6.027 11760 chr13 50123622 50123622 G C rs3751384 RCBTB1 Synonymous SNV P339P 0.651 0.573 0.619 259 764 220 0.664 182 251 63 60 86 9.978 11761 chr12 42503467 42503467 T C rs7312933 GXYLT1 Synonymous SNV T140T 0.329 0.339 0.255 157 386 130 0.403 75 103 35 22 41 8.936 11762 chr13 50126382 50126382 G A rs2274278 RCBTB1 Synonymous SNV L215L 0.8 0.719 0.799 298 939 276 0.764 235 375 100 98 113 11.1 11763 chr13 50141345 50141345 G A rs4942848 RCBTB1 Nonsynonymous SNV A24V 0.663 0.581 0.633 255 778 223 0.654 186 262 64 61 83 22.8 11764 chr12 25164366 25164366 A G rs904090 LOC645177 Synonymous SNV E250E 0.305 0.32 0 139 358 123 0.356 0 51 21 0 23 11.54 11765 chr12 42554505 42554505 A G rs1059360 YAF2 Synonymous SNV A101A 0.42 0.445 0.391 175 493 171 0.449 115 106 38 22 40 1.369 11766 chr2 220422774 220422774 A G rs2278201 OBSL1 Synonymous SNV P1187P 0.378 0.352 0.405 143 444 135 0.367 119 77 24 21 30 Benign 0.011 11767 chr12 25170093 25170093 G A rs73076078 LOC645177 Nonsynonymous SNV V352I 0.04 0.036 0 13 47 14 0.033 0 3 2 0 0 7.697 11768 chr13 50296115 50296115 C T rs1127021 KPNA3 Synonymous SNV P234P 0.83 0.823 0.84 323 975 316 0.828 247 400 128 102 135 15.73 11769 chr2 220427347 220427347 G T rs10804275 OBSL1 Synonymous SNV A910A 0.227 0.214 0.248 89 266 82 0.228 73 26 8 7 8 Benign 8.344 11770 chr13 51594741 51594741 T G rs1328361 GUCY1B2 0 0 0.582 0 0 0 0 171 0 0 46 0 0.462 11771 chr13 51603768 51603768 T C rs9568497 GUCY1B2 0 0 0.537 0 0 0 0 158 0 0 35 0 14.94 11772 chr2 220427395 220427395 G A rs3183099 OBSL1 Synonymous SNV D894D 0.224 0.214 0.245 88 263 82 0.226 72 26 8 6 7 Benign 2.26 11773 chr12 42854205 42854205 A G rs3747562 PRICKLE1 Synonymous SNV S634S 0.414 0.409 0.456 176 486 157 0.451 134 93 36 25 40 Benign 8.643 11774 chr12 124832388 124832388 C T rs36081651 NCOR2 Nonsynonymous SNV R1342H 0.013 0.008 0.007 0 15 3 0 2 0 0 0 0 26.9 11775 chr13 52440130 52440130 A G rs1054515 CCDC70 Nonsynonymous SNV I195V 0.376 0.349 0.337 136 441 134 0.349 99 87 27 21 25 0.001 11776 chr2 220430203 220430203 C T rs1039898 OBSL1 Nonsynonymous SNV R723K 0.865 0.867 0.871 338 1016 333 0.867 256 443 142 112 148 Benign 6.745 11777 chr2 204154552 204154552 C T rs1048013 CYP20A1 Nonsynonymous SNV L179F 0.578 0.531 0.544 214 678 204 0.549 160 225 66 43 65 22.9 11778 chr12 43769228 43769228 A C rs10506226 ADAMTS20 Synonymous SNV T1800T 0.26 0.25 0.252 103 305 96 0.264 74 35 9 14 17 0.001 11779 chr12 25243115 25243115 G C rs1908946 LRMP Nonsynonymous SNV C197S 0.515 0.516 0.49 209 605 198 0.536 144 158 52 39 55 24.9 11780 chr12 43769276 43769276 T C rs10880473 ADAMTS20 Synonymous SNV R1784R 0.26 0.25 0.252 103 305 96 0.264 74 35 9 14 17 0.055 11781 chr13 52603194 52603194 G T rs3742289 UTP14C Nonsynonymous SNV G85V 0.739 0.734 0.731 269 867 282 0.69 215 321 103 79 91 Benign 7.953 11782 chr12 2968169 2968169 A G rs3742076 FOXM1 Nonsynonymous SNV S628P 0.223 0.208 0.197 84 262 80 0.215 58 26 9 4 9 1.91 11783 chr2 220435034 220435034 A G rs10180675 OBSL1 Synonymous SNV L307L 0.866 0.865 0.871 338 1017 332 0.867 256 444 142 112 148 Benign 6.779 11784 chr12 14720554 14720554 G T rs1141509 PLBD1 Nonsynonymous SNV P26Q 0.093 0.065 0.017 38 109 25 0.097 5 52 12 2 17 18.41 11785 chr12 20885931 20885931 A G rs16923154 SLCO1C1 Synonymous SNV A307A 0.047 0.031 0.041 23 55 12 0.059 12 1 0 0 2 8.315 11786 chr13 52603241 52603241 A G rs3742290 UTP14C Nonsynonymous SNV T101A 0.16 0.164 0.119 47 188 63 0.121 35 18 4 1 3 Benign 0.056 11787 chr2 220435375 220435375 G A rs1061399 OBSL1 Synonymous SNV L194L 0.399 0.435 0.405 170 468 167 0.436 119 98 37 27 38 Benign 8.99 11788 chr2 220476443 220476443 C T rs627530 STK11IP Nonsynonymous SNV S741F 0.986 0.977 0.966 384 1158 375 0.985 284 571 183 137 189 14.24 11789 chr13 52603775 52603775 C T rs3742291 UTP14C Synonymous SNV L279L 0.739 0.734 0.728 269 867 282 0.69 214 321 103 78 91 Benign 2.8 11790 chr12 132522499 132522499 G A rs767588474 EP400 Nonsynonymous SNV R2022Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 11791 chr13 52676275 52676275 T G rs34756139 NEK5 Nonsynonymous SNV K255Q 0.157 0.169 0.116 50 184 65 0.128 34 16 4 2 3 23.3 11792 chr2 220494118 220494118 A C rs597306 SLC4A3 Nonsynonymous SNV H157P 1 1 0.966 388 1174 384 0.995 284 587 192 139 193 0.003 11793 chr12 29736480 29736480 A G rs2113879 TMTC1 Synonymous SNV H426H 0.234 0.237 0.204 92 275 91 0.236 60 21 15 5 10 6.646 11794 chr13 53035783 53035783 T C rs7337054 CKAP2 Synonymous SNV T275T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.067 11795 chr13 53035925 53035925 A G rs7335867 CKAP2 Nonsynonymous SNV I323V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 11796 chr2 220500423 220500423 A G rs589767 SLC4A3 Synonymous SNV E694E 1 1 0.99 388 1174 384 0.995 291 587 192 144 193 7.032 11797 chr12 4543445 4543445 C T rs71583765 FGF6 Nonsynonymous SNV R188Q 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 34 11798 chr12 29936626 29936626 C A rs654825 TMTC1 Nonsynonymous SNV R20L 0.239 0.208 0.139 69 280 80 0.177 41 33 10 10 6 12.65 11799 chr2 205969220 205969220 G A rs2289025 PARD3B Nonsynonymous SNV R192K 0.641 0.576 0.592 250 753 221 0.641 174 240 68 49 83 0.003 11800 chr13 53422553 53422553 A G rs3742301 PCDH8 Nonsynonymous SNV W7R 0.159 0.167 0.146 64 187 64 0.164 43 20 9 5 4 6.128 11801 chr2 220500426 220500426 A G rs639214 SLC4A3 Synonymous SNV A695A 0.99 0.979 0.973 385 1162 376 0.987 286 575 184 139 190 7.675 11802 chr2 223161889 223161889 A G rs12623857 PAX3 Synonymous SNV G43G 0.87 0.888 0.939 351 1021 341 0.9 276 445 149 129 156 Benign 2.887 11803 chr13 53603077 53603077 T C rs35790097 OLFM4 Nonsynonymous SNV S36P 0.059 0.057 0.068 19 69 22 0.049 20 0 1 2 1 0.001 11804 chr2 205990353 205990353 C T rs2276676 PARD3B Synonymous SNV T442T 0.274 0.245 0.262 92 322 94 0.236 77 47 14 10 10 10.96 11805 chr2 223423362 223423362 A G rs4674664 SGPP2 Synonymous SNV P187P 0.929 0.924 0.898 364 1091 355 0.933 264 507 164 117 171 0.007 11806 chr12 4627414 4627414 C T rs35924298 C12orf4 Synonymous SNV Q108Q 0.089 0.115 0.139 35 104 44 0.09 41 1 4 5 1 11.93 11807 chr2 223436607 223436607 C T rs7185 FARSB Nonsynonymous SNV V585I 0.88 0.875 0.854 343 1033 336 0.879 251 454 147 104 151 12.42 11808 chr13 61986918 61986918 C A rs3812872 PCDH20 Synonymous SNV V438V 0.675 0.714 0.656 243 793 274 0.623 193 265 98 60 76 6.715 11809 chr13 70681598 70681598 T C rs3751427 KLHL1 Synonymous SNV S78S 0.017 0.021 0.031 8 20 8 0.021 9 0 0 1 0 0.002 11810 chr2 223559089 223559089 T C rs1868024 MOGAT1 Nonsynonymous SNV S163P 0.236 0.232 0.272 75 277 89 0.192 80 33 12 7 6 10.16 11811 chr13 73301728 73301728 T C rs1465896 MZT1 Nonsynonymous SNV S5G 0.983 0.992 0.98 383 1154 381 0.982 288 567 189 141 189 4.711 11812 chr2 223917629 223917629 C T rs3795886 KCNE4 Synonymous SNV G78G 0.587 0.573 0.616 219 689 220 0.562 181 204 60 51 61 15.72 11813 chr13 73343039 73343039 C T rs2196979 DIS3 Synonymous SNV T466T 0.697 0.698 0.765 262 818 268 0.672 225 301 101 85 95 14.63 11814 chr12 47186770 47186770 C T rs2429467 SLC38A4 Nonsynonymous SNV G29R 0.036 0.039 0.041 8 42 15 0.021 12 2 0 0 0 0.452 11815 chr12 30868008 30868008 C T rs78303008 CAPRIN2 Synonymous SNV T789T 0.016 0.005 0.014 5 19 2 0.013 4 0 0 0 0 Benign 16.1 11816 chr13 73350079 73350079 T C rs4883918 DIS3 Nonsynonymous SNV N146S 0.264 0.263 0.238 99 310 101 0.254 70 49 12 12 10 0.002 11817 chr2 223917812 223917812 T C rs10201907 KCNE4 Synonymous SNV P139P 0.833 0.849 0.895 328 978 326 0.841 263 407 138 116 138 0.133 11818 chr12 15733669 15733669 G A rs3748299 PTPRO Synonymous SNV G173G 0.079 0.081 0.061 39 93 31 0.1 18 5 1 1 1 7.144 11819 chr2 223917983 223917983 T G rs12621643 KCNE4 Nonsynonymous SNV D196E 0.582 0.565 0.609 222 683 217 0.569 179 203 59 50 63 0.136 11820 chr2 207006676 207006676 T C rs1801318 NDUFS1 Synonymous SNV R306R 0.345 0.362 0.354 137 405 139 0.351 104 61 24 19 21 Benign 7.742 11821 chr13 74339104 74339104 G T rs3764134 KLF12 Synonymous SNV G280G 0.555 0.544 0.534 254 651 209 0.651 157 175 53 43 81 11.51 11822 chr13 74988714 74988714 C T rs1931954 LOC100288208 0 0 0.449 0 0 0 0 132 0 0 33 0 6.571 11823 chr12 4735965 4735965 - C rs200178782 AKAP3 Frameshift insertion D702Rfs*4 0.146 0.128 0.139 53 171 49 0.136 41 12 7 3 3 11824 chr2 207008763 207008763 C A rs1127566 NDUFS1 Synonymous SNV A211A 0.509 0.516 0.517 202 597 198 0.518 152 154 50 39 47 Benign 22.8 11825 chr12 30888001 30888001 T C rs12146709 CAPRIN2 Nonsynonymous SNV K237R 0.225 0.185 0.231 73 264 71 0.187 68 29 10 12 6 0.004 11826 chr2 225244352 225244352 G A rs61732371 FAM124B Nonsynonymous SNV L436F 0.073 0.039 0.054 21 86 15 0.054 16 7 0 0 1 0.004 11827 chr12 4735970 4735970 A - rs67512580 AKAP3 S700Lfs*7 0.146 0.128 0.139 53 171 49 0.136 41 12 7 3 3 11828 chr13 75884216 75884216 C T rs1062087 TBC1D4 Nonsynonymous SNV V756I 0.88 0.898 0.857 348 1033 345 0.892 252 459 155 115 156 Likely benign 10.45 11829 chr12 133220526 133220526 T C rs5744934 POLE Nonsynonymous SNV N1396S 0.171 0.138 0.16 58 201 53 0.149 47 19 6 2 2 Benign 23.4 11830 chr2 207041053 207041053 T C rs3732083 GPR1 Nonsynonymous SNV I307V 0.509 0.521 0.51 202 597 200 0.518 150 152 51 38 47 6.468 11831 chr2 225346646 225346646 T C rs2070127 CUL3 Synonymous SNV Q598Q 0.131 0.104 0.109 48 154 40 0.123 32 10 3 2 0 Benign 1.224 11832 chr13 75936519 75936519 C G rs7983969 TBC1D4 Synonymous SNV G241G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Likely benign 12.24 11833 chr2 207041441 207041441 G A rs3732082 GPR1 Synonymous SNV D177D 0.383 0.393 0.391 147 450 151 0.377 115 73 29 25 21 0.445 11834 chr12 4736569 4736569 A G rs12366671 AKAP3 Nonsynonymous SNV I500T 0.151 0.141 0.153 57 177 54 0.146 45 15 8 3 4 0.002 11835 chr13 76378459 76378459 T C rs625033 LMO7 Synonymous SNV F190F 0.927 0.943 0.881 357 1088 362 0.915 259 502 171 116 162 0.76 11836 chr2 225362478 225362478 C T rs3738952 CUL3 Nonsynonymous SNV V501I 0.083 0.068 0.071 27 98 26 0.069 21 4 1 1 0 Benign 23 11837 chr13 76397731 76397731 G A rs4884021 LMO7 Nonsynonymous SNV V564I 0.19 0.19 0.211 70 223 73 0.179 62 21 7 7 5 0.973 11838 chr12 31604928 31604928 G C rs3205175 DENND5B Synonymous SNV A348A 0.111 0.102 0.15 39 130 39 0.1 44 5 0 4 0 1.186 11839 chr2 225434445 225434445 A G rs10498163 CUL3 Synonymous SNV H15H 0.393 0.336 0.269 147 461 129 0.377 79 84 24 15 28 Benign 2.759 11840 chr13 76423248 76423248 T C rs7986131 LMO7 Nonsynonymous SNV M1068T 0.836 0.815 0.837 332 982 313 0.851 246 412 126 102 142 0.001 11841 chr12 31605044 31605044 G T rs1056320 DENND5B Nonsynonymous SNV H310N 0.111 0.102 0.146 39 130 39 0.1 43 5 0 4 0 12.17 11842 chr2 225719693 225719693 G A rs16866236 DOCK10 Synonymous SNV P619P 0.165 0.151 0.16 59 194 58 0.151 47 20 7 3 6 5.931 11843 chr12 2788810 2788810 C T rs72552065 CACNA1C Synonymous SNV N1772N 0.05 0.063 0.051 17 59 24 0.044 15 1 0 2 0 Benign/Likely benign 7.991 11844 chr13 76445316 76445316 C T rs9600567 LMO7DN 0.588 0.552 0.609 226 690 212 0.579 179 207 64 53 64 9.37 11845 chr2 226273689 226273689 T C rs2048936 NYAP2 Synonymous SNV Y31Y 0.798 0.799 0.84 333 937 307 0.854 247 381 125 103 145 0.025 11846 chr13 77459750 77459750 C G rs34544607 KCTD12 Synonymous SNV T178T 0.037 0.044 0.054 17 43 17 0.044 16 1 0 1 0 13.24 11847 chr12 12630669 12630669 C T rs3809199 DUSP16 Nonsynonymous SNV V366M 0.023 0.016 0.031 8 27 6 0.021 9 1 0 0 0 0.008 11848 chr2 207569623 207569623 A C rs116768218 DYTN Nonsynonymous SNV S143A 0.055 0.06 0.068 35 65 23 0.09 20 1 0 0 5 11.36 11849 chr2 226447735 226447735 C T rs3828256 NYAP2 Synonymous SNV S534S 0.72 0.685 0.612 259 845 263 0.664 180 312 92 52 80 7.012 11850 chr13 77738664 77738664 A G rs2274547 MYCBP2 Synonymous SNV L2158L 0.142 0.156 0.167 54 167 60 0.138 49 11 6 3 6 6.02 11851 chr2 226491770 226491770 A C rs3748993 NYAP2 Nonsynonymous SNV T586P 0.975 0.966 0.949 372 1145 371 0.954 279 559 179 132 177 9.532 11852 chr13 78146301 78146301 C T rs678047 SCEL Synonymous SNV S174S 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 10.83 11853 chr13 78216873 78216873 A G rs1053985 SCEL Synonymous SNV L618L 0.626 0.591 0.619 235 735 227 0.603 182 233 69 59 71 9.499 11854 chr12 1902905 1902905 G A rs33912216 CACNA2D4 Synonymous SNV G1110G 0.095 0.12 0.105 30 112 46 0.077 31 5 2 1 0 Benign/Likely benign 6.294 11855 chr13 78477674 78477674 A G rs5348 EDNRB Synonymous SNV S184S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 4.794 11856 chr2 227661043 227661043 T C rs1801123 IRS1 Synonymous SNV A804A 0.135 0.128 0.17 45 159 49 0.115 50 14 3 1 2 0.003 11857 chr2 207820276 207820276 G A rs13420911 CPO Nonsynonymous SNV M85I 0.385 0.393 0.388 164 452 151 0.421 114 87 32 22 32 12.96 11858 chr13 79940811 79940811 T C rs7327603 RBM26 Synonymous SNV V364V 0.512 0.552 0.578 211 601 212 0.541 170 172 66 48 59 5.688 11859 chr12 28603112 28603112 A G rs1133028 CCDC91 Nonsynonymous SNV M99V 0.054 0.039 0.041 20 63 15 0.051 12 3 0 2 0 5.369 11860 chr12 1906632 1906632 G A rs61741336 CACNA2D4 Nonsynonymous SNV P1022L 0.013 0.013 0.014 2 15 5 0.005 4 0 0 0 0 Benign 9.084 11861 chr2 227663185 227663185 G A rs3731597 IRS1 Synonymous SNV D90D 0.021 0.018 0.017 6 25 7 0.015 5 1 1 0 0 6.51 11862 chr13 80911525 80911525 G A rs504122 SPRY2 Nonsynonymous SNV P106S 0.385 0.38 0.425 156 452 146 0.4 125 90 33 24 25 4.252 11863 chr12 32134064 32134064 A G rs7298803 RESF1 Nonsynonymous SNV I59V 0.095 0.109 0.126 48 112 42 0.123 37 5 3 0 3 0.001 11864 chr2 227915735 227915735 A G rs201962241 COL4A4 Synonymous SNV G1036G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.027 11865 chr2 207824384 207824384 T G rs11903403 CPO Nonsynonymous SNV S134R 0.387 0.401 0.401 166 454 154 0.426 118 87 32 25 33 4.944 11866 chr13 86369120 86369120 C T rs3825413 SLITRK6 Synonymous SNV L508L 0.642 0.648 0.656 284 754 249 0.728 193 253 79 63 103 Benign 3.536 11867 chr2 228102723 228102723 G C rs13424243 COL4A3 Nonsynonymous SNV G43R 0.272 0.286 0.31 102 319 110 0.262 91 42 14 12 16 Benign 24.5 11868 chr13 88329468 88329468 G A rs146241606 SLITRK5 Nonsynonymous SNV E609K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 11869 chr12 133697941 133697941 G A rs61749593 ZNF891 Synonymous SNV F188F 0.031 0.026 0.01 7 36 10 0.018 3 2 0 0 0 0.04 11870 chr2 207825656 207825656 A T rs13397039 CPO Synonymous SNV A188A 0.385 0.398 0.391 164 452 153 0.421 115 86 32 23 32 7.311 11871 chr2 228111435 228111435 T C rs10178458 COL4A3 Nonsynonymous SNV L141P 0.748 0.766 0.806 307 878 294 0.787 237 333 111 94 125 Benign 0.037 11872 chr12 48238740 48238740 C T rs114678556 VDR Nonsynonymous SNV R358H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 11873 chr13 95363884 95363884 G C rs9556411 SOX21 Synonymous SNV A140A 0.201 0.19 0.153 93 236 73 0.238 45 42 15 9 19 6.928 11874 chr2 207833983 207833983 A G rs7582305 CPO Synonymous SNV T316T 0.279 0.297 0.245 106 327 114 0.272 72 32 13 9 12 0.176 11875 chr13 95714976 95714976 C T rs1751034 ABCC4 Synonymous SNV K1069K 0.758 0.758 0.769 293 890 291 0.751 226 335 112 86 106 drug response 14.79 11876 chr13 95726541 95726541 A G rs1189466 ABCC4 Synonymous SNV F901F 0.941 0.953 0.966 370 1105 366 0.949 284 520 175 137 175 2.289 11877 chr12 29649155 29649155 A G rs73069554 OVCH1 Synonymous SNV D80D 0.004 0 0.01 0 5 0 0 3 0 0 0 0 0.027 11878 chr2 228113175 228113175 A G rs6436669 COL4A3 Nonsynonymous SNV E162G 0.695 0.711 0.799 295 816 273 0.756 235 329 109 94 125 Benign 9.659 11879 chr12 26648092 26648092 C T rs2230381 ITPR2 Synonymous SNV Q1725Q 0.17 0.172 0.173 57 199 66 0.146 51 18 6 6 3 9.714 11880 chr2 207998800 207998800 C T rs2284934 KLF7 Synonymous SNV P3P 0.589 0.583 0.629 244 691 224 0.626 185 201 71 54 72 15.07 11881 chr13 95727780 95727780 T C rs1678339 ABCC4 Synonymous SNV L857L 0.941 0.953 0.959 371 1105 366 0.951 282 520 175 136 176 6.37 11882 chr13 95953517 95953517 G T rs11568681 ABCC4 Nonsynonymous SNV L18I 0.02 0.016 0.017 8 24 6 0.021 5 1 0 0 0 12.46 11883 chr12 32134943 32134943 A G rs10771894 RESF1 Nonsynonymous SNV S352G 0.368 0.388 0.418 141 432 149 0.362 123 81 33 25 20 7.765 11884 chr2 228121101 228121101 G T rs55703767 COL4A3 Nonsynonymous SNV D326Y 0.276 0.323 0.238 101 324 124 0.259 70 52 18 10 13 Benign 23 11885 chr13 96293631 96293631 G A rs9561921 DZIP1 Nonsynonymous SNV T172M 0.095 0.089 0.105 44 112 34 0.113 31 11 0 3 1 1.801 11886 chr2 228243905 228243905 G A rs7574414 TM4SF20 Nonsynonymous SNV A27V 0.181 0.219 0.177 52 213 84 0.133 52 17 9 7 2 0.116 11887 chr13 96506585 96506585 G A rs140498019 UGGT2 Nonsynonymous SNV R1385W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 11888 chr12 48501161 48501161 A T rs11609399 PFKM Nonsynonymous SNV H2L 0.114 0.122 0.194 55 134 47 0.141 57 8 2 5 5 not provided 21.7 11889 chr2 228476253 228476253 C G rs2138402 C2orf83 Nonsynonymous SNV E104Q 0.859 0.867 0.827 305 1008 333 0.782 243 435 145 103 121 0.009 11890 chr13 96638636 96638636 A C rs816142 UGGT2 Nonsynonymous SNV S328A 0.848 0.839 0.793 327 996 322 0.838 233 421 137 94 138 10.18 11891 chr12 32135938 32135938 A G rs11051718 RESF1 Synonymous SNV Q683Q 0.095 0.109 0.126 48 112 42 0.123 37 5 3 0 3 11.38 11892 chr13 98829176 98829176 T C rs628778 RNF113B Synonymous SNV P105P 0.947 0.935 0.959 368 1112 359 0.944 282 527 168 135 174 0.23 11893 chr2 228565656 228565656 G A rs11694828 SLC19A3 Synonymous SNV S37S 0.338 0.32 0.432 144 397 123 0.369 127 95 25 29 31 6.639 11894 chr12 32137512 32137512 C G rs3759299 RESF1 Nonsynonymous SNV S1208C 0.237 0.289 0.265 99 278 111 0.254 78 27 19 11 9 22.9 11895 chr13 98896776 98896776 C T rs7318267 FARP1 Nonsynonymous SNV T68I 0.526 0.497 0.52 215 618 191 0.551 153 159 49 39 62 2.713 11896 chr12 20803413 20803413 A T PDE3A Nonsynonymous SNV E613V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 11897 chr2 228758554 228758554 A T rs1715828 DAW1 Nonsynonymous SNV T121S 0.225 0.221 0.238 98 264 85 0.251 70 38 12 11 8 24.4 11898 chr12 129559421 129559421 C T rs73159540 TMEM132D Nonsynonymous SNV V767I 0.093 0.104 0.075 40 109 40 0.103 22 5 2 1 0 15.53 11899 chr13 99100547 99100547 T C rs12261 FARP1 Synonymous SNV S1038S 0.616 0.536 0.616 240 723 206 0.615 181 211 54 56 77 0.711 11900 chr2 208988958 208988958 T C rs61731517 CRYGD Nonsynonymous SNV M44V 0.014 0.013 0.014 8 17 5 0.021 4 0 0 0 0 Benign/Likely benign 9.771 11901 chr2 228846564 228846564 C G rs61755300 SPHKAP Nonsynonymous SNV V1629L 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 Benign 23.9 11902 chr13 99112680 99112680 C T rs4771305 STK24 Synonymous SNV P337P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 18.79 11903 chr12 27064232 27064232 C T rs3210635 INTS13 Synonymous SNV E608E 0.442 0.464 0.476 175 519 178 0.449 140 117 42 36 43 12.34 11904 chr13 99356612 99356612 A G rs1339067 SLC15A1 Synonymous SNV A449A 0.686 0.727 0.694 258 805 279 0.662 204 280 95 70 85 0.011 11905 chr12 2721137 2721137 C T rs216008 CACNA1C Synonymous SNV F1262F 0.219 0.208 0.218 81 257 80 0.208 64 28 7 7 7 Benign 12.62 11906 chr12 32138410 32138410 A G rs12827942 RESF1 Synonymous SNV E1507E 0.095 0.109 0.126 48 112 42 0.123 37 5 3 0 3 9.577 11907 chr2 228883043 228883043 T C rs116336001 SPHKAP Nonsynonymous SNV T843A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 11908 chr13 99948178 99948178 C A rs2230342 GPR183 Synonymous SNV V74V 0.445 0.471 0.446 160 522 181 0.41 131 116 45 31 31 13.08 11909 chr14 100069742 100069742 G A rs8007401 CCDC85C Synonymous SNV S185S 0.719 0.711 0.786 258 844 273 0.662 231 369 121 96 116 3.847 11910 chr14 100129327 100129327 G A rs34890784 HHIPL1 Synonymous SNV P539P 0.081 0.099 0.075 37 95 38 0.095 22 2 3 0 1 13.66 11911 chr2 228883264 228883264 G A rs144775838 SPHKAP Nonsynonymous SNV S769F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 11912 chr12 32764184 32764184 G A rs10844253 FGD4 Synonymous SNV R251R 0.389 0.365 0.364 160 457 140 0.41 107 101 27 22 31 Benign 10.29 11913 chr14 100141689 100141689 T C rs7158073 HHIPL1 Nonsynonymous SNV V692A 0.593 0.589 0.582 202 696 226 0.518 171 212 65 51 55 0.005 11914 chr12 32777362 32777362 G A rs11052110 FGD4 Synonymous SNV A322A 0.386 0.357 0.306 160 453 137 0.41 90 101 27 21 32 Benign 13.83 11915 chr2 228883721 228883721 T C rs3811514 SPHKAP Nonsynonymous SNV K617E 0.505 0.531 0.524 205 593 204 0.526 154 144 59 41 50 0.076 11916 chr14 100331876 100331876 T C rs11160553 EML1 Synonymous SNV P92P 0.282 0.273 0.296 102 331 105 0.262 87 49 14 10 13 2.096 11917 chr14 100380948 100380948 T C rs2250718 EML1 Nonsynonymous SNV S556P 0.549 0.573 0.619 213 645 220 0.546 182 172 65 52 59 16.94 11918 chr12 33535289 33535289 G A rs10844571 SYT10 Synonymous SNV Y455Y 0.241 0.273 0.235 114 283 105 0.292 69 32 10 9 15 2.464 11919 chr2 228883782 228883782 A G rs140319163 SPHKAP Synonymous SNV S596S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.07 11920 chr14 100615665 100615665 T C rs4905936 DEGS2 Synonymous SNV T155T 0.859 0.805 0.84 341 1009 309 0.874 247 431 119 100 149 0.002 11921 chr12 33579297 33579297 C G rs11052695 SYT10 Synonymous SNV T95T 0.104 0.128 0.116 48 122 49 0.123 34 4 7 4 2 9.442 11922 chr2 228883976 228883976 T C rs145506918 SPHKAP Nonsynonymous SNV S532G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 11923 chr14 100615961 100615961 C T rs4905937 DEGS2 Nonsynonymous SNV A57T 0.2 0.159 0.194 73 235 61 0.187 57 23 5 7 8 23.5 11924 chr12 21069049 21069049 G A rs60571683 SLCO1B3 Synonymous SNV S631S 0.051 0.049 0.054 12 60 19 0.031 16 1 0 1 0 Benign/Likely benign 6.959 11925 chr12 33579408 33579408 A T rs10844596 SYT10 Synonymous SNV A58A 0.094 0.112 0.116 44 110 43 0.113 34 4 7 4 2 0.018 11926 chr2 228884650 228884650 T G rs139197816 SPHKAP Nonsynonymous SNV Q307P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 11927 chr14 100625902 100625902 C T rs7157599 DEGS2 Nonsynonymous SNV S8N 0.669 0.68 0.626 268 785 261 0.687 184 263 89 65 94 11.05 11928 chr12 3788145 3788145 C T rs242018 CRACR2A Nonsynonymous SNV E154K 0.244 0.26 0.279 105 287 100 0.269 82 38 12 7 17 21 11929 chr2 228884872 228884872 T C rs140596863 SPHKAP Nonsynonymous SNV D233G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.135 11930 chr14 100759046 100759046 C A rs3825555 SLC25A29 Synonymous SNV T96T 0.524 0.516 0.493 220 615 198 0.564 145 152 47 32 64 16.58 11931 chr12 3788222 3788222 G A rs242017 CRACR2A Nonsynonymous SNV A128V 0.248 0.266 0.286 106 291 102 0.272 84 39 12 8 17 12.82 11932 chr14 100792126 100792126 C T rs35097172 SLC25A47 Synonymous SNV G10G 0.167 0.182 0.173 83 196 70 0.213 51 17 4 5 7 6.948 11933 chr2 230231749 230231749 C T rs141811504 DNER Nonsynonymous SNV V648M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 11934 chr14 100795338 100795338 G C rs8015259 SLC25A47 Synonymous SNV A55A 0.209 0.211 0.204 102 245 81 0.262 60 27 7 8 10 5.032 11935 chr12 3788260 3788260 G A rs242016 CRACR2A Synonymous SNV H115H 0.159 0.154 0.184 65 187 59 0.167 54 17 3 2 8 8.484 11936 chr12 14976553 14976553 G C rs17761825 C12orf60 Synonymous SNV A228A 0.197 0.211 0.194 78 231 81 0.2 57 27 6 5 7 6.236 11937 chr14 100847523 100847523 T C rs2181170 WDR25 Nonsynonymous SNV W88R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 11938 chr12 29596365 29596365 T C rs78265994 OVCH1 Nonsynonymous SNV K1064R 0.1 0.089 0.075 48 117 34 0.123 22 7 0 1 3 14.51 11939 chr12 48919793 48919793 T C rs2705143 OR8S1 Nonsynonymous SNV C127R 0.23 0.221 0.207 94 270 85 0.241 61 45 11 8 11 25 11940 chr2 230663719 230663719 T C rs530156752 TRIP12 Synonymous SNV A773A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.016 11941 chr2 230668858 230668858 T C rs13018957 TRIP12 Synonymous SNV T567T 0.578 0.531 0.531 199 678 204 0.51 156 195 55 39 46 5.543 11942 chr14 100847707 100847707 A G rs2273800 WDR25 Nonsynonymous SNV H149R 0.732 0.75 0.735 297 859 288 0.762 216 317 106 78 110 0.002 11943 chr2 230841033 230841033 A G rs139081403 FBXO36 Nonsynonymous SNV H58R 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 23.9 11944 chr12 406292 406292 G A rs2229351 KDM5A Synonymous SNV S1383S 0.261 0.268 0.241 123 306 103 0.315 71 44 13 7 17 14.46 11945 chr14 100847930 100847930 A G rs3742387 WDR25 Synonymous SNV P223P 0.729 0.747 0.735 295 856 287 0.756 216 316 105 78 109 0.073 11946 chr12 32134815 32134815 G A rs16919122 RESF1 Nonsynonymous SNV R309Q 0.13 0.099 0.146 41 153 38 0.105 43 7 0 5 1 0.191 11947 chr12 29617550 29617550 G A rs11050243 OVCH1 Nonsynonymous SNV S707F 0.139 0.13 0.095 71 163 50 0.182 28 14 0 3 8 25.4 11948 chr2 230861519 230861519 G T rs1035834 FBXO36 Nonsynonymous SNV L86F 0.231 0.219 0.194 100 271 84 0.256 57 31 8 5 13 23.4 11949 chr14 100996312 100996312 T C rs13065 WDR25 Synonymous SNV Y265Y 0.314 0.32 0.357 135 369 123 0.346 105 63 18 18 27 0.013 11950 chr12 129559228 129559228 G A rs140762080 TMEM132D Nonsynonymous SNV S831L 0.023 0.016 0.017 8 27 6 0.021 5 1 0 0 1 Benign 0.199 11951 chr14 101005215 101005215 T C rs12893951 BEGAIN Synonymous SNV A291A 0.323 0.328 0.35 139 379 126 0.356 103 66 18 18 27 0.044 11952 chr12 49065727 49065727 T C rs7303113 KANSL2 Synonymous SNV T188T 0.358 0.357 0.313 129 420 137 0.331 92 75 24 14 15 4.205 11953 chr14 101005236 101005236 A G rs12892571 BEGAIN Synonymous SNV H284H 0.313 0.315 0.344 134 367 121 0.344 101 62 16 17 26 0.004 11954 chr2 231042276 231042276 A G rs1135791 SP110 Nonsynonymous SNV M523T 0.57 0.565 0.493 229 669 217 0.587 145 194 65 35 72 Benign 0.029 11955 chr12 40713901 40713901 T A rs11564148 LRRK2 Nonsynonymous SNV S1647T 0.23 0.25 0.255 104 270 96 0.267 75 26 11 14 11 Benign 3.16 11956 chr14 101138230 101138230 A C rs8011237 LINC00523 0 0 0.969 0 0 0 0 285 0 0 139 0 0.384 11957 chr12 21329761 21329761 G A rs11045818 SLCO1B1 Synonymous SNV S137S 0.179 0.214 0.048 52 210 82 0.133 14 21 9 5 1 Benign 6.028 11958 chr14 101198417 101198417 A G rs6575799 DLK1 Nonsynonymous SNV R101G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.004 11959 chr2 231050715 231050715 A G rs3948464 SP110 Nonsynonymous SNV L425S 0.848 0.88 0.861 321 996 338 0.823 253 421 147 109 131 Benign 0.002 11960 chr12 29650614 29650614 G A rs370252291 OVCH1 Synonymous SNV G2G 0.003 0.016 0 0 4 6 0 0 0 0 0 0 3.667 11961 chr12 49087656 49087656 G C rs3013 CCNT1 Synonymous SNV P447P 0.335 0.341 0.286 122 393 131 0.313 84 68 22 13 14 0.49 11962 chr12 21329813 21329813 C A rs11045819 SLCO1B1 Nonsynonymous SNV P155T 0.179 0.214 0.051 52 210 82 0.133 15 21 9 5 1 Benign 2.73 11963 chr14 101200645 101200645 T C rs1802710 DLK1 Synonymous SNV I188I 0.427 0.474 0.459 175 501 182 0.449 135 106 40 32 39 5.185 11964 chr12 32137447 32137447 C T rs3759300 RESF1 Synonymous SNV P1186P 0.141 0.18 0.146 51 166 69 0.131 43 12 8 3 2 16.39 11965 chr12 40742254 40742254 G A rs10878405 LRRK2 Synonymous SNV E2108E 0.27 0.258 0.265 105 317 99 0.269 78 41 12 12 13 Benign 11.79 11966 chr2 231077725 231077725 A G rs1129411 SP110 Nonsynonymous SNV W112R 0.872 0.893 0.878 332 1024 343 0.851 258 447 151 112 141 Benign 0.069 11967 chr14 101349017 101349017 A G rs6575805 RTL1 Synonymous SNV F703F 0.719 0.76 0.721 253 844 292 0.649 212 303 110 76 86 0.003 11968 chr12 49177113 49177113 T G rs2453486 ADCY6 Synonymous SNV A35A 0.294 0.279 0.279 113 345 107 0.29 82 44 14 16 15 0.012 11969 chr14 101350298 101350298 T C rs3825569 RTL1 Synonymous SNV E276E 0.616 0.672 0.633 223 723 258 0.572 186 225 85 59 62 0.441 11970 chr12 132326298 132326298 G A rs35466884 MMP17 Nonsynonymous SNV R279H 0.221 0.219 0.19 82 260 84 0.21 56 27 10 7 8 12.74 11971 chr2 210517915 210517915 T C rs2271252 MAP2 Synonymous SNV D7D 0.149 0.161 0.136 67 175 62 0.172 40 8 4 1 9 2.492 11972 chr14 101418193 101418193 G - rs10713875 SNORD114-2 0 0 0.99 0 0 0 0 291 0 0 145 0 11973 chr2 231149108 231149108 G A rs4972946 SP140 Nonsynonymous SNV E402K 0.98 0.977 0.963 383 1151 375 0.982 283 564 184 136 188 0.082 11974 chr14 101507727 101507727 C T rs12894467 MIR300 0 0 0.452 0 0 0 0 133 0 0 34 0 7.346 11975 chr12 32481369 32481369 C T rs34447944 BICD1 Synonymous SNV A660A 0.103 0.083 0.092 32 121 32 0.082 27 6 1 0 3 Benign 14.01 11976 chr12 40820208 40820208 G A rs11176575 MUC19 0.344 0.401 0.32 140 404 154 0.359 94 63 28 16 23 24.1 11977 chr2 210557380 210557380 C T rs6720659 MAP2 Synonymous SNV H158H 0.113 0.109 0.102 51 133 42 0.131 30 5 1 0 6 11.39 11978 chr14 101531854 101531854 A G rs61992671 MIR412 0 0 0.463 0 0 0 0 136 0 0 34 0 15.61 11979 chr12 49308284 49308284 A G rs10747556 CCDC65 Nonsynonymous SNV H133R 0.371 0.391 0.425 154 435 150 0.395 125 82 31 24 23 Benign 0.001 11980 chr14 102025158 102025158 C T rs8011440 DIO3OS 0 0 0.35 0 0 0 0 103 0 0 21 0 0.266 11981 chr2 231248261 231248261 C T rs28497362 SP140L Nonsynonymous SNV T200M 0.166 0.138 0.201 79 195 53 0.203 59 23 7 6 9 0.342 11982 chr2 210557542 210557542 G A rs741007 MAP2 Synonymous SNV T212T 0.162 0.172 0.139 70 190 66 0.179 41 9 5 1 9 11.61 11983 chr14 102391577 102391577 G C rs3742424 PPP2R5C Nonsynonymous SNV A476P 0.093 0.091 0.075 41 109 35 0.105 22 6 2 0 3 23 11984 chr12 40931655 40931655 G A rs76684015 MUC19 0.149 0.167 0.173 63 175 64 0.162 51 9 4 6 5 11.22 11985 chr12 21699391 21699391 G T rs121918420 GYS2 Nonsynonymous SNV P479Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Uncertain significance 28.9 11986 chr12 49312593 49312593 A G rs10875893 CCDC65 Synonymous SNV R168R 0.371 0.391 0.429 156 436 150 0.4 126 82 31 25 25 Benign 1.093 11987 chr2 210558162 210558162 G A rs741006 MAP2 Nonsynonymous SNV R419K 0.113 0.109 0.102 51 133 42 0.131 30 5 1 0 6 0.001 11988 chr2 231331896 231331896 G A rs1050224 SP100 Synonymous SNV S394S 0.707 0.766 0.765 274 830 294 0.703 225 295 113 83 92 8.046 11989 chr14 102463407 102463407 A G rs12893215 DYNC1H1 Synonymous SNV Q1200Q 0.11 0.104 0.126 51 129 40 0.131 37 8 3 4 6 Benign 0.09 11990 chr12 49314862 49314862 C A rs10875894 CCDC65 Synonymous SNV T249T 0.371 0.391 0.425 154 435 150 0.395 125 82 31 24 23 Benign 12.32 11991 chr14 102493761 102493761 A G rs8010870 DYNC1H1 Synonymous SNV L2976L 0.112 0.107 0.126 54 131 41 0.138 37 8 3 4 7 Benign 3.331 11992 chr12 41374862 41374862 A G rs2229930 CNTN1 Synonymous SNV A641A 0.056 0.073 0.068 24 66 28 0.062 20 1 0 0 1 Benign 8.249 11993 chr2 231406680 231406680 T C rs836237 SP100 Nonsynonymous SNV M826T 0.902 0.924 0.867 349 1059 355 0.895 255 478 164 111 155 0.001 11994 chr2 210559960 210559960 G T rs2239672 MAP2 Synonymous SNV V1018V 0.113 0.109 0.099 51 133 42 0.131 29 5 1 0 6 5.224 11995 chr12 49314994 49314994 A G rs4760600 CCDC65 Nonsynonymous SNV Y265C 0.371 0.391 0.425 154 435 150 0.395 125 82 31 24 23 Benign 26.3 11996 chr14 102514227 102514227 T C rs13749 DYNC1H1 Synonymous SNV T4360T 0.229 0.232 0.218 98 269 89 0.251 64 30 14 7 14 Benign 2.833 11997 chr12 32854366 32854366 A C rs10844308 DNM1L Synonymous SNV S40S 0.16 0.156 0.201 64 188 60 0.164 59 25 7 6 7 Benign 1.169 11998 chr14 102548703 102548703 T G rs34644998 HSP90AA1 Synonymous SNV R612R 0.038 0.023 0.027 13 45 9 0.033 8 3 0 0 0 8.111 11999 chr2 231729802 231729802 C T rs149334809 ITM2C Nonsynonymous SNV A21V 0.01 0.01 0.007 4 12 4 0.01 2 0 0 0 0 22.2 12000 chr12 132514288 132514288 C G rs58319354 EP400 Synonymous SNV S1808S 0.035 0.042 0.048 26 41 16 0.067 14 0 2 0 1 8.375 12001 chr12 32860302 32860302 G A rs2272238 DNM1L Nonsynonymous SNV G29E 0.184 0.195 0.187 71 216 75 0.182 55 25 7 5 8 Benign 15.4 12002 chr14 102550803 102550803 G A rs4947 HSP90AA1 Synonymous SNV N360N 0.807 0.828 0.816 330 948 318 0.846 240 381 133 97 140 11.34 12003 chr2 211060050 211060050 T G rs2286963 ACADL Nonsynonymous SNV K333Q 0.286 0.263 0.265 113 336 101 0.29 78 46 15 13 15 Benign 25.6 12004 chr14 102568296 102568296 G A rs10873531 HSP90AA1 Synonymous SNV T94T 0.827 0.839 0.823 320 971 322 0.821 242 402 137 99 132 7.89 12005 chr12 49359989 49359989 G A rs1051886 WNT10B Synonymous SNV H353H 0.381 0.396 0.432 155 447 152 0.397 127 87 31 24 25 6.467 12006 chr2 231775297 231775297 T G rs1992186 GPR55 Synonymous SNV L127L 0.422 0.417 0.446 156 495 160 0.4 131 106 26 27 33 0.107 12007 chr12 32875406 32875406 A G rs10844318 DNM1L Synonymous SNV T103T 0.188 0.193 0.184 75 221 74 0.192 54 25 7 5 7 Benign 1.844 12008 chr14 102568367 102568367 T A rs8005905 HSP90AA1 Nonsynonymous SNV M71L 0.87 0.883 0.864 340 1021 339 0.872 254 443 149 111 148 0.002 12009 chr12 41946539 41946539 G A rs285584 PDZRN4 Nonsynonymous SNV G171S 0.179 0.201 0.17 86 210 77 0.221 50 16 7 3 8 34 12010 chr12 132547162 132547162 G A rs55938102 EP400 Synonymous SNV T2750T 0.036 0.042 0.048 27 42 16 0.069 14 0 2 0 1 8.04 12011 chr2 231865144 231865144 G C rs12105962 SPATA3 Nonsynonymous SNV C122S 0.198 0.159 0.228 81 232 61 0.208 67 23 5 13 7 23.1 12012 chr12 32908237 32908237 C A rs11539445 YARS2 Nonsynonymous SNV G191V 0.19 0.195 0.204 76 223 75 0.195 60 25 7 6 7 Benign/Likely benign 23 12013 chr14 102675350 102675350 G C rs6575900 WDR20 Synonymous SNV G220G 0.22 0.219 0.231 79 258 84 0.203 68 31 11 6 7 0.076 12014 chr2 232087474 232087474 A G rs1626450 ARMC9 Nonsynonymous SNV I180V 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 Benign 23.4 12015 chr14 102695693 102695693 T C rs2236493 MOK Nonsynonymous SNV Q164R 0.218 0.211 0.221 70 256 81 0.179 65 28 10 6 6 0.039 12016 chr12 32908518 32908518 G A rs11539444 YARS2 Synonymous SNV G97G 0.19 0.195 0.204 76 223 75 0.195 60 26 7 6 7 Benign/Likely benign 12.44 12017 chr12 49412709 49412709 G A rs2293446 DDN-AS1 0.037 0.039 0.01 24 43 15 0.062 3 17 6 1 11 0.023 12018 chr12 132238952 132238952 C T rs78980089 SFSWAP Synonymous SNV P454P 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 18.05 12019 chr14 102808330 102808330 C T rs12590618 ZNF839 Synonymous SNV V750V 0.329 0.333 0.299 117 386 128 0.3 88 67 20 11 15 12.03 12020 chr2 232087475 232087475 T A rs1626451 ARMC9 Nonsynonymous SNV I180K 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 23.2 12021 chr12 427575 427575 A G rs11062385 KDM5A Nonsynonymous SNV M865T 0.26 0.266 0.241 123 305 102 0.315 71 43 12 7 17 10.7 12022 chr14 102814945 102814945 G A rs7012 CINP Synonymous SNV S196S 0.344 0.352 0.299 121 404 135 0.31 88 73 23 12 16 13.71 12023 chr14 102815042 102815042 C T rs7011 CINP Nonsynonymous SNV R164H 0.32 0.331 0.293 147 376 127 0.377 86 58 27 13 23 20.3 12024 chr12 132250772 132250772 G A rs34781103 SFSWAP Synonymous SNV A687A 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 15.01 12025 chr2 214142631 214142631 G C rs13000409 SPAG16-DT 0.534 0.487 0.418 235 627 187 0.603 123 246 70 53 93 0.015 12026 chr2 232196564 232196564 C T rs1669083 ARMC9 Synonymous SNV L578L 0.267 0.323 0.296 110 314 124 0.282 87 39 24 13 17 16.93 12027 chr2 215617178 215617178 C G rs28997576 BARD1 Nonsynonymous SNV C87S 0.02 0.021 0.024 4 23 8 0.01 7 0 0 0 0 Benign 0.011 12028 chr12 49434364 49434364 C G KMT2D Nonsynonymous SNV A2397P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.252 12029 chr2 232196570 232196570 A G rs76068318 ARMC9 Synonymous SNV E580E 0.063 0.049 0.061 32 74 19 0.082 18 2 1 0 2 10.9 12030 chr14 102894593 102894593 G A rs1309353 TECPR2 Nonsynonymous SNV V320I 0.966 0.979 0.973 381 1134 376 0.977 286 561 186 139 188 Benign 7.7 12031 chr2 232196597 232196597 G A rs1669084 ARMC9 Synonymous SNV T589T 0.335 0.38 0.357 143 393 146 0.367 105 68 30 18 29 17.39 12032 chr12 132633403 132633403 G A rs377205374 NOC4L Synonymous SNV T288T 0.002 0.008 0.007 4 2 3 0.01 2 0 0 0 0 7.495 12033 chr12 49435199 49435199 G A rs377392943 KMT2D Synonymous SNV P2118P 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.137 12034 chr14 102901201 102901201 A G rs10149146 TECPR2 Nonsynonymous SNV I683V 0.365 0.359 0.347 159 428 138 0.408 102 81 29 20 27 Benign 0.001 12035 chr2 232325415 232325417 TCA - rs139777351 NCL D258del 0.158 0.13 0.068 39 185 50 0.1 20 10 0 1 3 12036 chr12 42854208 42854208 A G rs3747563 PRICKLE1 Synonymous SNV F633F 0.343 0.349 0.384 158 403 134 0.405 113 62 23 19 34 Benign 9.535 12037 chr12 25191066 25191066 T C rs11611409 LOC645177 Synonymous SNV L704L 0.042 0.029 0 14 49 11 0.036 0 0 0 0 1 19.99 12038 chr2 232326417 232326417 C T rs1131171 NCL Synonymous SNV E149E 0.24 0.216 0.187 78 282 83 0.2 55 29 7 3 8 13.93 12039 chr12 25191067 25191067 G T rs11609332 LOC645177 Nonsynonymous SNV A705S 0.042 0.029 0 14 49 11 0.036 0 0 0 0 1 14.81 12040 chr12 42864117 42864117 G A rs144843013 PRICKLE1 Synonymous SNV Y59Y 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.22 12041 chr14 102901484 102901484 G A rs144849839 TECPR2 Nonsynonymous SNV S777N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.896 12042 chr2 232457880 232457880 T C rs74460533 TEX44 Nonsynonymous SNV V73A 0.109 0.102 0.058 33 128 39 0.085 17 6 2 1 2 0.003 12043 chr12 49937813 49937813 A G rs1150057 KCNH3 Synonymous SNV A253A 0.146 0.141 0.15 62 171 54 0.159 44 10 5 2 7 0.805 12044 chr14 102974221 102974221 C T rs749898438 ANKRD9 Synonymous SNV P2P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 12045 chr14 103342049 103342049 T C rs1131877 TRAF3 Nonsynonymous SNV M129T 0.251 0.247 0.211 86 295 95 0.221 62 30 11 12 9 0.024 12046 chr12 132837580 132837580 G A GALNT9 Nonsynonymous SNV P239S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 20.2 12047 chr2 232458443 232458443 T C rs10933378 TEX44 Nonsynonymous SNV S261P 0.841 0.844 0.895 325 987 324 0.833 263 406 137 118 137 0.025 12048 chr12 49981478 49981478 G A rs144159467 FAM186B Synonymous SNV Y864Y 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 9.614 12049 chr12 40013392 40013392 G C rs117275340 ABCD2 Nonsynonymous SNV A9G 0.048 0.039 0.034 20 56 15 0.051 10 4 0 0 0 22.3 12050 chr14 103447292 103447292 G A rs56158661 CDC42BPB Synonymous SNV L320L 0.039 0.029 0.014 10 46 11 0.026 4 1 0 0 0 Benign 11.25 12051 chr2 215645545 215645545 C G rs2070096 BARD1 Synonymous SNV T332T 0.257 0.232 0.252 101 302 89 0.259 74 47 14 8 11 Benign 9.982 12052 chr12 50190160 50190160 C T rs145718102 NCKAP5L Nonsynonymous SNV G495S 0.013 0.01 0.017 3 15 4 0.008 5 0 0 0 0 24.5 12053 chr2 232952286 232952286 A G rs11887184 DIS3L2 Synonymous SNV Q152Q 0.078 0.042 0.054 23 92 16 0.059 16 3 2 0 0 Benign 0.662 12054 chr14 103566785 103566785 C T rs2297067 EXOC3L4 Nonsynonymous SNV R77W 0.277 0.232 0.252 112 325 89 0.287 74 44 13 11 20 23.4 12055 chr2 233349588 233349588 G A rs1529874 ECEL1 Nonsynonymous SNV H328Y 0.995 0.997 0.99 388 1168 383 0.995 291 581 191 144 193 Benign 4.482 12056 chr12 20864342 20864342 C A rs36010656 SLCO1C1 Nonsynonymous SNV P25T 0.066 0.086 0.044 14 78 33 0.036 13 2 1 0 0 9.777 12057 chr14 103566835 103566835 C G rs2297066 EXOC3L4 Nonsynonymous SNV D93E 0.279 0.232 0.252 112 327 89 0.287 74 43 13 11 20 0.001 12058 chr12 132624669 132624669 G A rs12312005 DDX51 Synonymous SNV P583P 0.008 0.016 0.02 2 9 6 0.005 6 0 1 0 0 5.54 12059 chr2 233388813 233388813 T G rs2741299 PRSS56 Synonymous SNV P417P 0.822 0.797 0.769 318 965 306 0.815 226 395 127 93 133 Benign 11.32 12060 chr14 103568614 103568614 T A rs10131298 EXOC3L4 Nonsynonymous SNV L185H 0.278 0.232 0.248 111 326 89 0.285 73 42 13 11 20 16.71 12061 chr2 233684615 233684615 - A GIGYF2 Frameshift insertion E812Rfs*4 0 0 0 0 0 0 0 0 0 0 0 0 12062 chr2 233708806 233708806 A G rs3816334 GIGYF2 Synonymous SNV Q974Q 0.652 0.643 0.626 250 765 247 0.641 184 246 86 53 84 Benign 0.555 12063 chr14 103568729 103568729 A G rs10142200 EXOC3L4 Synonymous SNV E223E 0.376 0.339 0.452 148 442 130 0.379 133 82 24 32 28 0.334 12064 chr2 215901774 215901774 C T rs17501837 ABCA12 Synonymous SNV V296V 0.121 0.117 0.156 52 142 45 0.133 46 8 4 3 4 Benign 7.721 12065 chr12 50232496 50232496 T C rs17260403 BCDIN3D Synonymous SNV L179L 0.09 0.099 0.068 42 106 38 0.108 20 4 2 0 3 11.13 12066 chr14 103568981 103568981 A C rs77071436 EXOC3L4 Synonymous SNV P307P 0.278 0.232 0.228 112 326 89 0.287 67 44 13 11 20 0.003 12067 chr2 233712210 233712230 CAGCAGCAGCAGCTGCCACAG - rs527464858 GIGYF2 L1203_Q1209del 0.057 0.068 0.078 28 67 26 0.072 23 1 1 0 2 12068 chr14 103576415 103576415 A G rs729184 EXOC3L4 Nonsynonymous SNV Q675R 0.948 0.938 0.861 370 1113 360 0.949 253 528 171 112 175 0.08 12069 chr2 233712227 233712229 ACA - rs10555297 GIGYF2 Q1210del 0.565 0.557 0.463 211 663 214 0.541 136 192 66 37 61 12070 chr14 103588957 103588957 G A rs907620149 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 8.01 12071 chr2 233712248 233712248 G A rs12328151 GIGYF2 Synonymous SNV P1211P 0.293 0.234 0.197 110 344 90 0.282 58 51 13 5 18 Benign 6.911 12072 chr14 103593950 103593950 C G rs1132339 TNFAIP2 Nonsynonymous SNV Q282E 0.704 0.672 0.694 269 826 258 0.69 204 290 94 75 90 23 12073 chr2 233740227 233740227 A G rs778338 SNORC Nonsynonymous SNV E23G 0.61 0.599 0.571 226 716 230 0.579 168 218 78 45 71 6.437 12074 chr12 45815024 45815024 G A rs201212498 ANO6 Synonymous SNV P796P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.11 12075 chr2 233750074 233750074 C T rs2292725 NGEF Synonymous SNV V359V 0.292 0.229 0.238 110 343 88 0.282 70 51 13 6 18 11.71 12076 chr14 103602278 103602278 A G rs710100 TNFAIP2 Nonsynonymous SNV I697V 0.727 0.734 0.694 286 854 282 0.733 204 312 112 73 102 4.231 12077 chr12 26755563 26755563 C T rs35862420 ITPR2 Nonsynonymous SNV R1180Q 0.012 0.01 0.007 3 14 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 12078 chr2 233757679 233757679 G A rs748002 NGEF Synonymous SNV A265A 0.273 0.32 0.306 102 320 123 0.262 90 46 22 14 16 10.81 12079 chr12 50467897 50467897 G A rs752201289 ASIC1 Nonsynonymous SNV G177D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.44 12080 chr14 103934488 103934488 T C rs10137161 MARK3 Nonsynonymous SNV F331S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.45 12081 chr12 47173617 47173617 T C rs141997108 SLC38A4 Nonsynonymous SNV I202V 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 0.003 12082 chr2 233757697 233757697 A G rs895432 NGEF Synonymous SNV I259I 0.98 0.984 0.969 374 1151 378 0.959 285 564 186 138 179 1.06 12083 chr12 133324589 133324589 G A rs78663714 ANKLE2 Synonymous SNV N353N 0.011 0.021 0.017 10 13 8 0.026 5 0 0 0 0 9.064 12084 chr14 103996396 103996396 G A rs2765037 TRMT61A Synonymous SNV A27A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 15.58 12085 chr2 233785015 233785015 G A rs778354 NGEF Synonymous SNV P177P 0.764 0.727 0.724 288 897 279 0.738 213 340 108 86 104 0.562 12086 chr14 104029378 104029378 C G rs2274268 COA8 Nonsynonymous SNV P14A 0.351 0.391 0.245 157 412 150 0.403 72 68 33 16 28 Benign 6.464 12087 chr2 233834975 233834975 A G rs4973588 NGEF Nonsynonymous SNV M111T 0.828 0.81 0.803 327 972 311 0.838 236 401 124 96 133 0.001 12088 chr14 104165753 104165753 G A rs861539 XRCC3 Nonsynonymous SNV T241M 0.392 0.398 0.432 177 460 153 0.454 127 85 32 26 36 risk factor 10.54 12089 chr12 42499690 42499690 T C rs79044728 GXYLT1 Nonsynonymous SNV Y234C 0.051 0.055 0 8 60 21 0.021 0 0 0 0 0 25.5 12090 chr12 133294371 133294371 A G rs117147264 PGAM5 Nonsynonymous SNV K191R 0.035 0.042 0.02 12 41 16 0.031 6 0 0 0 0 15.88 12091 chr12 2694638 2694638 C T rs215976 CACNA1C Synonymous SNV D812D 0.093 0.096 0.095 44 109 37 0.113 28 5 3 2 1 Benign 10.15 12092 chr2 233899126 233899126 C A rs2233391 NEU2 Nonsynonymous SNV H168N 0.452 0.469 0.507 184 531 180 0.472 149 125 49 40 41 1.771 12093 chr14 104194196 104194196 C G rs1535100 ZFYVE21 Synonymous SNV L101L 0.915 0.919 0.915 369 1074 353 0.946 269 488 163 124 175 11.44 12094 chr14 104220530 104220530 T C rs140395624 PPP1R13B Nonsynonymous SNV I170V 0.013 0.016 0.027 1 15 6 0.003 8 0 0 0 0 Benign 0.01 12095 chr12 42499692 42499692 A T rs77044712 GXYLT1 Stop gain Y233X 0.05 0.057 0 8 59 22 0.021 0 0 0 0 0 36 12096 chr12 21229413 21229413 G A rs188817665 SLCO1B3-SLCO1B7, SLCO1B7 Nonsynonymous SNV G545E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 25 12097 chr12 50745791 50745791 - GCCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG FAM186A A1610_Q1611insLGIPLTPQQAQALGISLTPQQAQA 0.596 0.617 0.524 242 700 237 0.621 154 217 81 60 75 12098 chr2 234229415 234229415 G C rs59676190 SAG Synonymous SNV L107L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 0.35 12099 chr12 50745856 50745856 G A rs113879003 FAM186A Synonymous SNV L1587L 0.619 0.635 0.548 250 727 244 0.641 161 229 85 63 80 0.73 12100 chr12 42499694 42499694 A T GXYLT1 Nonsynonymous SNV Y233N 0.049 0.063 0 9 57 24 0.023 0 0 0 0 0 25 12101 chr14 104320701 104320701 G A rs8018770 LINC00637 0 0 0.027 0 0 0 0 8 0 0 0 0 0.896 12102 chr2 234367022 234367022 A G rs61739478 DGKD Synonymous SNV L847L 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 1 10.57 12103 chr12 50745861 50745861 - GA rs773026868 FAM186A Frameshift insertion Q1585Lfs*71 0.614 0.625 0.537 245 721 240 0.628 158 227 82 60 76 12104 chr14 104394850 104394850 C T rs9324066 TDRD9 Synonymous SNV L2L 0.339 0.37 0.374 134 398 142 0.344 110 79 31 19 22 11.33 12105 chr12 133331459 133331459 G C rs7968520 ANKLE2 Nonsynonymous SNV Q148E 0.042 0.052 0.031 15 49 20 0.038 9 2 0 0 0 0.856 12106 chr2 234386134 234386134 A G rs2971863 USP40 Synonymous SNV H1204H 0.201 0.224 0.194 61 236 86 0.156 57 27 12 6 7 0.062 12107 chr12 50745863 50745863 - CTGCTGAGGGGTGAGAGGGATCCCCAGGGCCTGG rs762780805 FAM186A Frameshift insertion E1586Afs*92 0.619 0.63 0.548 245 727 242 0.628 161 229 84 63 77 12108 chr12 42499701 42499701 C A rs74583427 GXYLT1 Nonsynonymous SNV R230S 0.051 0.065 0 8 60 25 0.021 0 0 0 0 0 25.1 12109 chr14 104429453 104429453 A G rs6576013 TDRD9 Synonymous SNV T120T 0.998 1 0.993 388 1172 384 0.995 292 585 192 145 193 0.025 12110 chr14 104436931 104436931 C T rs11851097 TDRD9 Synonymous SNV L273L 0.314 0.37 0.323 127 369 142 0.326 95 55 29 15 19 11.8 12111 chr2 216904019 216904019 A T rs9288513 PECR Nonsynonymous SNV F297L 0.078 0.096 0.068 37 91 37 0.095 20 1 1 0 4 2.149 12112 chr2 234394487 234394487 G A rs1048603 USP40 Nonsynonymous SNV R1111C 0.294 0.328 0.296 100 345 126 0.256 87 55 21 9 20 12.62 12113 chr14 104452640 104452640 G A rs10143389 TDRD9 Synonymous SNV L366L 0.301 0.359 0.289 126 353 138 0.323 85 51 26 12 18 11.31 12114 chr12 27648710 27648710 C T rs3751223 SMCO2 Nonsynonymous SNV T252M 0.043 0.052 0.041 18 50 20 0.046 12 2 1 0 0 0.005 12115 chr12 42499711 42499711 C A rs76555438 GXYLT1 Nonsynonymous SNV R227L 0.052 0.07 0 8 61 27 0.021 0 0 0 0 0 34 12116 chr14 104465037 104465037 T C rs10133836 TDRD9 Synonymous SNV A485A 0.998 1 0.99 388 1172 384 0.995 291 585 192 144 193 5.478 12117 chr2 216908679 216908679 C T rs2303842 PECR Synonymous SNV S258S 0.154 0.151 0.139 79 181 58 0.203 41 13 6 2 6 21.5 12118 chr2 234394569 234394569 A G rs2603547 USP40 Synonymous SNV Y1083Y 0.204 0.232 0.187 61 239 89 0.156 55 28 12 6 7 0.005 12119 chr12 42499714 42499714 T C rs78536827 GXYLT1 Nonsynonymous SNV N226S 0.054 0.07 0 8 63 27 0.021 0 0 0 0 0 11.23 12120 chr14 104472756 104472756 G A rs79402943 TDRD9 Nonsynonymous SNV E582K 0.014 0.013 0.031 2 16 5 0.005 9 0 0 0 0 15 12121 chr2 234449316 234449316 G A rs2167884 USP40 Synonymous SNV L387L 0.802 0.773 0.799 327 941 297 0.838 235 381 116 94 139 11.64 12122 chr12 42499730 42499730 G T rs77940338 GXYLT1 Synonymous SNV R221R 0.056 0.065 0 9 66 25 0.023 0 0 0 0 0 9.875 12123 chr2 217148417 217148417 C A rs876771 MARCHF4 Synonymous SNV S184S 0.502 0.555 0.49 198 589 213 0.508 144 145 58 33 47 22.1 12124 chr2 234460148 234460148 C T rs73996123 USP40 Synonymous SNV K237K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 15.29 12125 chr14 104481083 104481083 T C rs11160779 TDRD9 Synonymous SNV L710L 0.297 0.354 0.269 124 349 136 0.318 79 51 24 10 18 1.734 12126 chr12 4737900 4737900 G A rs61755981 AKAP3 Synonymous SNV F56F 0.014 0.016 0.007 3 16 6 0.008 2 0 0 0 0 Benign 9.521 12127 chr12 42499738 42499738 T C rs796100580 GXYLT1 Nonsynonymous SNV E218G 0.059 0.073 0 8 69 28 0.021 0 0 0 0 0 26.6 12128 chr2 234590616 234590616 C A rs7577677 UGT1A7 Synonymous SNV P11P 0.402 0.419 0.361 149 472 161 0.382 106 90 38 18 23 Benign 11.72 12129 chr14 104488633 104488633 C G rs79863141 TDRD9 Nonsynonymous SNV Q858E 0.014 0.013 0.031 2 16 5 0.005 9 0 0 0 0 0.078 12130 chr12 47471439 47471439 G A rs2269828 AMIGO2 Synonymous SNV P449P 0.328 0.286 0.354 118 385 110 0.303 104 60 18 18 15 5.828 12131 chr12 42499739 42499739 C T rs77582546 GXYLT1 Nonsynonymous SNV E218K 0.059 0.073 0 8 69 28 0.021 0 0 0 0 0 33 12132 chr2 217543728 217543728 G A rs11575194 IGFBP5 Nonsynonymous SNV R138W 0.037 0.029 0.041 10 44 11 0.026 12 0 0 0 1 26.5 12133 chr2 234590970 234590970 T G rs17868323 UGT1A7 Nonsynonymous SNV N129K 0.609 0.617 0.585 224 715 237 0.574 172 218 75 49 56 Benign 0.002 12134 chr12 48142636 48142636 C T rs12422983 RAPGEF3 Nonsynonymous SNV G332S 0.167 0.198 0.19 66 196 76 0.169 56 25 9 6 5 14.84 12135 chr12 2787058 2787058 C T rs2302731 CACNA1C-AS1 0.043 0.042 0.054 17 51 16 0.044 16 1 0 1 0 Benign 6.255 12136 chr12 3782647 3782647 A T rs36030417 CRACR2A Nonsynonymous SNV H212Q 0.129 0.115 0.119 43 151 44 0.11 35 11 3 0 3 0.036 12137 chr14 104497543 104497543 C T rs10135507 TDRD9 Synonymous SNV L1127L 0.296 0.354 0.269 123 348 136 0.315 79 52 24 10 18 4.793 12138 chr14 104633227 104633227 A C rs76304797 KIF26A Synonymous SNV R319R 0.083 0.052 0.051 28 97 20 0.072 15 0 1 0 0 0.345 12139 chr12 42499763 42499763 T C rs80202058 GXYLT1 Nonsynonymous SNV I210V 0.056 0.068 0 6 66 26 0.015 0 0 0 0 0 11.82 12140 chr2 218669225 218669225 T C rs61741262 TNS1 Nonsynonymous SNV N1701S 0.128 0.154 0.085 46 150 59 0.118 25 11 3 0 0 12.8 12141 chr2 234590974 234590974 C A rs17863778 UGT1A7 Synonymous SNV R131R 0.609 0.617 0.585 224 715 237 0.574 172 218 75 49 56 Benign 14.13 12142 chr14 104639519 104639519 C G rs61743517 KIF26A Synonymous SNV L542L 0.072 0.055 0.044 26 84 21 0.067 13 1 1 0 0 2.216 12143 chr12 3782701 3782701 C T rs17697920 CRACR2A Synonymous SNV L194L 0.129 0.115 0.119 43 151 44 0.11 35 11 3 0 3 8.153 12144 chr2 234590975 234590975 G A rs17868324 UGT1A7 Nonsynonymous SNV R131Q 0.609 0.617 0.585 224 715 237 0.574 172 218 75 49 56 Benign 1.813 12145 chr14 104641612 104641612 T C rs4906422 KIF26A Synonymous SNV G829G 0.328 0.305 0.279 137 385 117 0.351 82 59 19 12 22 0.061 12146 chr12 42512830 42512830 T A rs76740071 GXYLT1 Nonsynonymous SNV D122V 0.118 0.135 0 32 138 52 0.082 0 0 0 0 0 31 12147 chr2 218674697 218674697 C T rs918949 TNS1 Nonsynonymous SNV V1583I 0.631 0.609 0.616 242 741 234 0.621 181 242 71 54 77 6.751 12148 chr14 104642341 104642341 A G rs2487304 KIF26A Synonymous SNV P1072P 0.772 0.721 0.731 306 906 277 0.785 215 355 102 77 120 0.012 12149 chr14 104642422 104642422 A G rs3742947 KIF26A Synonymous SNV A1099A 0.328 0.31 0.279 138 385 119 0.354 82 59 21 12 23 0.565 12150 chr12 42512844 42512844 A C rs78707986 GXYLT1 Nonsynonymous SNV H117Q 0.147 0.161 0 40 172 62 0.103 0 0 0 0 0 22.3 12151 chr2 234591205 234591205 T C rs11692021 UGT1A7 Nonsynonymous SNV W208R 0.402 0.419 0.374 148 472 161 0.379 110 90 38 18 23 Benign 0.001 12152 chr12 39695445 39695445 G A rs2271477 KIF21A Synonymous SNV L1553L 0.07 0.089 0.105 33 82 34 0.085 31 4 2 1 1 Benign 11.45 12153 chr2 218682474 218682474 A G rs12694422 TNS1 Synonymous SNV S1402S 0.454 0.448 0.439 186 533 172 0.477 129 129 38 29 44 1.607 12154 chr14 104642524 104642524 C T rs78184481 KIF26A Synonymous SNV F1133F 0.067 0.049 0.044 26 79 19 0.067 13 1 1 0 0 5.14 12155 chr14 104643409 104643409 A G rs2487303 KIF26A Synonymous SNV A1428A 0.773 0.724 0.735 306 907 278 0.785 216 356 103 79 120 0.054 12156 chr12 40085906 40085906 A T rs73270414 C12orf40 Nonsynonymous SNV K468M 0.155 0.18 0.17 60 182 69 0.154 50 15 6 8 6 16.75 12157 chr2 218682771 218682771 A G rs3796026 TNS1 Synonymous SNV G1303G 0.454 0.448 0.435 186 533 172 0.477 128 129 38 29 44 10.97 12158 chr12 42512910 42512910 T A rs76585820 GXYLT1 Nonsynonymous SNV R95S 0.078 0.094 0 25 91 36 0.064 0 0 0 0 0 25.7 12159 chr14 104643859 104643859 A G rs2487300 KIF26A Synonymous SNV R1578R 0.444 0.414 0.459 170 521 159 0.436 135 115 33 32 35 0.174 12160 chr2 234601669 234601669 T G rs6759892 UGT1A6 Nonsynonymous SNV S7A 0.396 0.417 0.401 155 465 160 0.397 118 98 43 21 27 Benign 0.001 12161 chr2 218683154 218683154 A G rs2571445 TNS1 Nonsynonymous SNV W1176R 0.629 0.615 0.619 249 739 236 0.638 182 241 73 56 83 5.551 12162 chr14 104644099 104644099 T C rs2497297 KIF26A Synonymous SNV S1658S 0.407 0.375 0.408 164 478 144 0.421 120 104 30 20 32 0.068 12163 chr14 104644126 104644126 C T rs756440739 KIF26A Synonymous SNV S1667S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 12164 chr12 42512924 42512924 C T rs77838761 GXYLT1 Nonsynonymous SNV A91T 0.094 0.107 0 27 110 41 0.069 0 0 0 0 0 25.9 12165 chr2 234601965 234601965 A G rs1105880 UGT1A6 Synonymous SNV L105L 0.38 0.411 0.367 143 446 158 0.367 108 79 38 20 22 Benign 0.994 12166 chr14 104644147 104644147 C T rs11621644 KIF26A Synonymous SNV S1674S 0.411 0.388 0.313 164 482 149 0.421 92 97 29 14 37 10.17 12167 chr12 48391416 48391416 G T rs3737548 COL2A1 Synonymous SNV G99G 0.276 0.247 0.221 104 324 95 0.267 65 47 12 5 14 Benign 6.591 12168 chr12 51386066 51386066 A G rs1048230 SLC11A2 Synonymous SNV I414I 0.186 0.211 0.218 63 218 81 0.162 64 16 8 7 5 Benign 10.96 12169 chr2 218683257 218683257 A G rs2571442 TNS1 Synonymous SNV A1141A 0.457 0.451 0.446 185 536 173 0.474 131 130 38 30 43 3.154 12170 chr12 29521193 29521193 A G rs12831730 ERGIC2 Synonymous SNV T81T 0.227 0.229 0.19 97 267 88 0.249 56 31 9 5 9 1.356 12171 chr14 104644212 104644212 A G rs61743202 KIF26A Nonsynonymous SNV K1696R 0.06 0.052 0.044 24 70 20 0.062 13 2 1 0 0 17.74 12172 chr2 234602191 234602191 A G rs2070959 UGT1A6 Nonsynonymous SNV T181A 0.363 0.388 0.34 131 426 149 0.336 100 72 34 17 18 Benign 0.436 12173 chr2 218683368 218683368 C T rs34144104 TNS1 Synonymous SNV P1104P 0.312 0.336 0.32 134 366 129 0.344 94 61 22 15 17 13.64 12174 chr12 42512938 42512938 T A rs200822565 GXYLT1 Nonsynonymous SNV H86L 0.121 0.128 0 35 142 49 0.09 0 0 0 0 0 29.5 12175 chr12 14577681 14577681 G A rs2231908 ATF7IP Nonsynonymous SNV E278K 0 0.008 0.003 3 0 3 0.008 1 0 0 0 0 19.56 12176 chr14 104710505 104710505 T G rs7142555 LINC02691 0 0 0.803 0 0 0 0 236 0 0 91 0 4.271 12177 chr2 234602202 234602202 A C rs1105879 UGT1A6 Nonsynonymous SNV R184S 0.38 0.411 0.364 142 446 158 0.364 107 79 38 20 22 Benign 7.318 12178 chr14 104710651 104710651 C T rs7141507 LINC02691 0 0 0.469 0 0 0 0 138 0 0 31 0 9.134 12179 chr12 51442944 51442944 G A rs12379 LETMD1 Nonsynonymous SNV V28I 0.34 0.365 0.405 113 399 140 0.29 119 65 29 21 19 16.01 12180 chr12 48477422 48477422 A G rs886588 SENP1 Synonymous SNV L168L 0.243 0.206 0.204 111 285 79 0.285 60 37 8 4 10 4.803 12181 chr12 14019128 14019128 C T rs34315573 GRIN2B Synonymous SNV A5A 0.016 0.013 0.01 3 19 5 0.008 3 0 0 0 0 Benign 15.07 12182 chr14 105060632 105060632 T C rs3803315 TMEM179 Nonsynonymous SNV H208R 0.625 0.622 0.537 245 734 239 0.628 158 227 72 39 80 0.122 12183 chr2 234688036 234688036 C A rs6431631 MROH2A Nonsynonymous SNV A11D 0.809 0.781 0.786 308 950 300 0.79 231 387 113 93 116 3.446 12184 chr14 105070791 105070791 G T rs3803313 TMEM179 Synonymous SNV L96L 0.775 0.758 0.721 302 910 291 0.774 212 356 114 77 117 11.73 12185 chr12 51492691 51492691 A G TFCP2 Synonymous SNV A378A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.443 12186 chr14 105167807 105167807 C T rs4983530 INF2 Synonymous SNV P35P 0.952 0.943 0.946 380 1118 362 0.974 278 534 170 132 185 Benign 11.15 12187 chr2 234702459 234702459 T C rs1500481 MROH2A Nonsynonymous SNV Y271H 0.623 0.643 0.609 234 731 247 0.6 179 219 84 54 66 0.847 12188 chr12 29631895 29631895 A G rs75108592 OVCH1 Synonymous SNV Y362Y 0.034 0.01 0.02 16 40 4 0.041 6 2 0 0 1 2.802 12189 chr14 105179194 105179194 T C rs10133301 INF2 Synonymous SNV D880D 0.881 0.88 0.915 340 1034 338 0.872 269 457 151 122 146 Benign 0.136 12190 chr12 48512331 48512331 C T rs11168414 PFKM Nonsynonymous SNV P91L 0.248 0.214 0.201 113 291 82 0.29 59 37 7 3 10 5.441 12191 chr14 105180565 105180565 T C rs4983535 INF2 Synonymous SNV D1022D 0.765 0.763 0.803 291 898 293 0.746 236 333 107 95 104 Benign 0.051 12192 chr12 51593616 51593616 T G rs4077093 POU6F1 Nonsynonymous SNV T94P 0.708 0.716 0 314 831 275 0.805 0 329 107 0 130 14.3 12193 chr14 105180785 105180785 C T rs34251364 INF2 Nonsynonymous SNV P1096S 0.109 0.115 0.095 50 128 44 0.128 28 2 0 1 2 Benign 14.07 12194 chr2 234703136 234703136 T C rs6431634 MROH2A Nonsynonymous SNV V317A 0.617 0.63 0.609 235 724 242 0.603 179 220 84 54 67 4.123 12195 chr12 48526712 48526712 G A rs2228500 PFKM Nonsynonymous SNV R100Q 0.25 0.214 0.201 113 293 82 0.29 59 37 7 3 10 Benign 22.6 12196 chr12 51597909 51597909 T C rs2067902 POU6F1 Synonymous SNV Q97Q 0.613 0.622 0 270 720 239 0.692 0 272 95 0 108 1.561 12197 chr2 234704318 234704318 A G rs2361503 MROH2A Nonsynonymous SNV E329G 0.628 0.654 0.622 234 737 251 0.6 183 224 86 56 70 23.9 12198 chr14 105196365 105196365 T C rs33958252 ADSS1 Synonymous SNV L46L 0.476 0.49 0.378 186 559 188 0.477 111 127 49 20 44 0.022 12199 chr14 105222037 105222037 C T rs1132975 SIVA1 Synonymous SNV A63A 0.399 0.388 0.248 146 468 149 0.374 73 88 31 12 27 19.81 12200 chr12 40837264 40837264 T C rs11564230 MUC19 0.117 0.089 0.129 50 137 34 0.128 38 9 2 1 3 25.1 12201 chr12 51685707 51685707 T C rs117691477 BIN2 Nonsynonymous SNV S341G 0.018 0.013 0.024 5 21 5 0.013 7 1 0 0 0 19.37 12202 chr2 234704690 234704690 T C rs759173 MROH2A Synonymous SNV L379L 0.839 0.82 0.837 324 985 315 0.831 246 416 130 104 135 1.114 12203 chr12 29670504 29670504 G A rs12227259 TMTC1 Synonymous SNV R675R 0.005 0.003 0.014 0 6 1 0 4 0 0 0 0 13.88 12204 chr14 105239894 105239894 C T rs1130233 AKT1 Synonymous SNV E242E 0.277 0.281 0.15 94 325 108 0.241 44 41 16 4 7 Benign 12.9 12205 chr2 234708428 234708428 G A rs13013882 MROH2A Synonymous SNV V444V 0.766 0.789 0.721 288 899 303 0.738 212 342 121 73 104 13.15 12206 chr2 218940259 218940259 C T rs7423696 RUFY4 Synonymous SNV P348P 0.267 0.268 0.262 93 313 103 0.238 77 42 17 9 5 5.738 12207 chr12 44148259 44148259 T C rs1057190 PUS7L Nonsynonymous SNV K264E 0.161 0.159 0.163 59 189 61 0.151 48 13 4 4 1 0.266 12208 chr14 105267579 105267579 A G rs12878684 ZBTB42 Synonymous SNV R15R 0.859 0.909 0.874 342 1008 349 0.877 257 433 158 112 149 7.92 12209 chr2 234725502 234725502 T C rs726016 MROH2A Nonsynonymous SNV W978R 0.823 0.836 0.799 306 966 321 0.785 235 409 139 91 117 0.005 12210 chr2 218940418 218940418 C T rs4674246 RUFY4 Synonymous SNV A401A 0.13 0.141 0.112 57 153 54 0.146 33 9 2 4 6 9.661 12211 chr12 48596241 48596241 A G rs11168459 OR10AD1 Nonsynonymous SNV Y279H 0.227 0.193 0.187 98 267 74 0.251 55 34 8 3 9 25.6 12212 chr14 105267934 105267934 G A rs34284721 ZBTB42 Nonsynonymous SNV A134T 0.159 0.169 0.078 53 187 65 0.136 23 13 4 0 7 0.01 12213 chr12 44180295 44180295 G A rs4251545 IRAK4 Nonsynonymous SNV A304T 0.127 0.128 0.129 47 149 49 0.121 38 7 2 2 1 Benign 9.2 12214 chr2 234727333 234727333 C G rs719418 MROH2A Nonsynonymous SNV Q1041E 0.015 0.018 0.024 4 18 7 0.01 7 0 0 1 0 0.005 12215 chr12 29813816 29813816 T C rs138783218 TMTC1 Nonsynonymous SNV Y314C 0.009 0.018 0.007 6 11 7 0.015 2 0 0 0 0 18.83 12216 chr14 105268104 105268104 G A rs10141867 ZBTB42 Synonymous SNV L190L 0.251 0.302 0.224 98 295 116 0.251 66 34 15 3 14 7.038 12217 chr12 44194265 44194265 A G rs17093734 TWF1 Synonymous SNV I117I 0.029 0.016 0.003 4 34 6 0.01 1 0 0 0 0 8.873 12218 chr2 234727986 234727986 C T rs6754859 MROH2A Synonymous SNV C1076C 0.734 0.745 0.701 283 862 286 0.726 206 315 108 68 100 9.3 12219 chr2 219029108 219029108 C G rs2234671 CXCR1 Nonsynonymous SNV S276T 0.039 0.063 0.044 14 46 24 0.036 13 1 2 0 0 0.001 12220 chr14 105268228 105268228 G A rs4983387 ZBTB42 Nonsynonymous SNV E232K 0.841 0.878 0.84 330 987 337 0.846 247 418 147 106 137 Benign 16.43 12221 chr12 48597053 48597053 A G rs17122812 OR10AD1 Nonsynonymous SNV V8A 0.227 0.193 0.184 98 267 74 0.251 54 34 8 3 9 10.42 12222 chr12 14982352 14982352 G C rs3088190 ART4 Nonsynonymous SNV L300V 0.055 0.057 0.037 18 64 22 0.046 11 1 0 0 0 0.001 12223 chr12 42538320 42538320 G A rs112525075 GXYLT1 Synonymous SNV A43A 0.139 0.112 0.003 65 163 43 0.167 1 0 0 0 0 15.14 12224 chr2 234728078 234728078 T C rs1500480 MROH2A Nonsynonymous SNV F1107S 0.824 0.841 0.793 307 967 323 0.787 233 401 138 89 117 12.21 12225 chr12 44196125 44196125 T C rs112006889 TWF1 Synonymous SNV E82E 0.029 0.016 0.02 4 34 6 0.01 6 0 0 0 0 0.5 12226 chr12 42538334 42538334 C A rs181558534 GXYLT1 Nonsynonymous SNV G39W 0.128 0.107 0.003 55 150 41 0.141 1 0 0 0 0 25 12227 chr12 4459032 4459032 G A rs7309402 TIGAR Synonymous SNV T80T 0.092 0.076 0.109 49 108 29 0.126 32 9 2 1 7 12.47 12228 chr2 219140288 219140288 G C rs2292550 TMBIM1 Synonymous SNV P171P 0.427 0.456 0.401 192 501 175 0.492 118 116 38 26 48 9.737 12229 chr14 105350178 105350178 C T rs45449696 CEP170B Synonymous SNV H284H 0.29 0.289 0.303 126 341 111 0.323 89 49 13 14 20 12.04 12230 chr12 48723142 48723142 C T rs117292373 H1-7 Nonsynonymous SNV A23V 0.058 0.049 0.048 31 68 19 0.079 14 2 0 1 1 25.5 12231 chr2 234730807 234730807 G A rs6734083 MROH2A Nonsynonymous SNV V1184M 0.07 0.078 0.061 17 82 30 0.044 18 1 1 0 1 0.14 12232 chr14 105350355 105350355 A G rs2841236 CEP170B Synonymous SNV T343T 0.7 0.685 0.752 278 822 263 0.713 221 284 90 83 101 0.311 12233 chr12 42538340 42538340 C A rs1054641167 GXYLT1 Nonsynonymous SNV G37C 0.119 0.096 0.003 54 140 37 0.138 1 0 0 0 0 23.2 12234 chr12 52184271 52184271 T C rs303815 SCN8A Synonymous SNV P1462P 0.746 0.732 0.677 276 876 281 0.708 199 318 100 70 96 Benign 6.312 12235 chr14 105350799 105350799 C T rs9788593 CEP170B Synonymous SNV D491D 0.776 0.76 0.782 320 911 292 0.821 230 362 108 95 131 11.06 12236 chr12 2717695 2717695 C T rs398123521 CACNA1C Synonymous SNV I1125I 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Uncertain significance 16.09 12237 chr2 219221846 219221846 G A rs4324314 CATIP Synonymous SNV S29S 0.257 0.232 0.19 107 302 89 0.274 56 48 8 5 13 6.692 12238 chr2 234732317 234732317 A G rs11676792 MROH2A 0.448 0.419 0.432 180 526 161 0.462 127 126 36 24 45 10.2 12239 chr12 48723313 48723313 A G H1-7 Nonsynonymous SNV K80R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.089 12240 chr14 105350868 105350868 C T rs9788594 CEP170B Synonymous SNV A514A 0.783 0.771 0.779 323 919 296 0.828 229 366 112 95 132 7.589 12241 chr12 52188409 52188409 C T rs12301486 SCN8A Synonymous SNV V1552V 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Benign 12.4 12242 chr12 42538349 42538349 T C GXYLT1 Nonsynonymous SNV T34A 0.091 0.081 0.003 40 107 31 0.103 1 0 0 0 0 1.712 12243 chr14 105354293 105354293 A G rs2582548 CEP170B Synonymous SNV S1169S 0.8 0.776 0.813 328 939 298 0.841 239 376 114 99 137 0.063 12244 chr12 30906358 30906358 G A rs17688567 CAPRIN2 Nonsynonymous SNV P114S 0.123 0.169 0.102 62 144 65 0.159 30 13 7 2 4 22.4 12245 chr12 48723595 48723595 G A rs1471997 H1-7 Nonsynonymous SNV R174Q 0.226 0.203 0.17 97 265 78 0.249 50 35 9 4 11 7.79 12246 chr12 52200742 52200742 C A rs60637 SCN8A Synonymous SNV P1783P 0.734 0.74 0.677 276 862 284 0.708 199 307 103 70 96 Benign 10.7 12247 chr2 234737372 234737372 C A rs7564261 MROH2A Synonymous SNV R1406R 0.214 0.193 0.214 85 251 74 0.218 63 27 9 3 12 18.56 12248 chr14 105393556 105393556 G C rs2841280 PLD4 Nonsynonymous SNV E34Q 0.344 0.333 0.313 128 404 128 0.328 92 66 16 18 23 0.169 12249 chr12 42538352 42538352 C A GXYLT1 Stop gain G33X 0.089 0.076 0.003 39 105 29 0.1 1 0 0 0 0 35 12250 chr12 52214512 52214512 G A rs369718908 FIGNL2 Synonymous SNV A562A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.73 12251 chr2 219249013 219249013 C T rs2276631 SLC11A1 Synonymous SNV F66F 0.262 0.25 0.214 110 308 96 0.282 63 49 10 6 14 16.09 12252 chr2 234740136 234740136 G A rs879665 MROH2A Nonsynonymous SNV A1564T 0.193 0.174 0.221 76 226 67 0.195 65 22 6 6 8 9.225 12253 chr12 46321514 46321514 A T rs7315731 SCAF11 Nonsynonymous SNV F657Y 0.453 0.495 0.527 204 532 190 0.523 155 117 44 40 54 0.892 12254 chr12 42538356 42538356 T C GXYLT1 Synonymous SNV E31E 0.079 0.073 0.003 36 93 28 0.092 1 0 0 0 0 0.032 12255 chr14 105398499 105398499 C T PLD4 Synonymous SNV N410N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 12256 chr12 52214698 52214698 C G rs532501111 FIGNL2 Synonymous SNV R500R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.435 12257 chr12 15475692 15475692 C T rs752232017 PTPRO Nonsynonymous SNV A11V 0 0 0 0 0 0 0 0 0 0 0 0 21.1 12258 chr12 42538366 42538366 A T GXYLT1 Nonsynonymous SNV V28E 0.033 0.034 0.003 25 39 13 0.064 1 0 0 0 0 14.31 12259 chr14 105405599 105405599 G C rs3742935 AHNAK2 Nonsynonymous SNV P5297A 0.653 0.664 0.677 259 767 255 0.664 199 247 80 69 88 24.5 12260 chr2 234740157 234740157 G A rs879664 MROH2A Nonsynonymous SNV V1571I 0.081 0.078 0.071 15 95 30 0.038 21 2 1 0 0 11.15 12261 chr12 46322449 46322449 C T rs10880868 SCAF11 Synonymous SNV G345G 0.215 0.221 0.228 100 252 85 0.256 67 24 8 6 15 13.85 12262 chr14 105405942 105405942 G A rs28454709 AHNAK2 Synonymous SNV L5182L 0.653 0.664 0.677 259 767 255 0.664 199 247 80 69 88 1.629 12263 chr14 105406238 105406238 A C rs2819419 AHNAK2 Nonsynonymous SNV Y5084D 0.655 0.667 0.68 260 769 256 0.667 200 248 80 69 88 0.011 12264 chr2 234749258 234749258 T C rs10511 HJURP Nonsynonymous SNV E638G 0.096 0.096 0.099 30 113 37 0.077 29 8 2 0 0 13.42 12265 chr12 27850113 27850113 A T rs12819160 REP15 Nonsynonymous SNV E206D 0.124 0.104 0.105 48 146 40 0.123 31 10 2 2 2 4.38 12266 chr12 52284500 52284500 A G rs34494292 ANKRD33 Nonsynonymous SNV Q63R 0.207 0.188 0.201 84 243 72 0.215 59 26 10 6 6 9.19 12267 chr12 46760866 46760866 G A rs36022751 SLC38A2 Synonymous SNV N58N 0.014 0.008 0.003 9 16 3 0.023 1 0 0 0 0 Benign 10.28 12268 chr12 3147203 3147203 C T rs11550887 TEAD4 Nonsynonymous SNV P194S 0.014 0.018 0.017 8 16 7 0.021 5 0 0 0 0 1.602 12269 chr14 105406372 105406372 C T rs61421370 AHNAK2 Nonsynonymous SNV G5039E 0.566 0.578 0.639 226 665 222 0.579 188 190 63 59 69 6.436 12270 chr2 234749354 234749354 G A rs12582 HJURP Nonsynonymous SNV S606F 0.096 0.096 0.099 30 113 37 0.077 29 8 2 0 0 0.015 12271 chr12 27867727 27867727 G A rs1127787 MRPS35 Nonsynonymous SNV G43R 0.13 0.099 0.116 46 153 38 0.118 34 10 1 3 3 1.479 12272 chr12 52400887 52400887 G A rs141044558 GRASP Synonymous SNV S28S 0.032 0.034 0.01 7 38 13 0.018 3 0 1 0 0 13.58 12273 chr14 105407031 105407031 A G rs11623422 AHNAK2 Synonymous SNV S4819S 0.653 0.664 0.677 259 767 255 0.664 199 247 80 69 88 1.755 12274 chr14 105407208 105407208 T C rs11851053 AHNAK2 Synonymous SNV V4760V 0.653 0.664 0.677 259 767 255 0.664 199 247 80 69 88 2.793 12275 chr2 234749780 234749780 G C rs3821238 HJURP Nonsynonymous SNV S464C 0.096 0.096 0.105 28 113 37 0.072 31 8 2 1 0 12.88 12276 chr14 105407798 105407798 T C rs4465542 AHNAK2 Nonsynonymous SNV T4564A 0.652 0.664 0.677 259 766 255 0.664 199 246 80 69 88 0.002 12277 chr12 31653395 31653395 C T rs78330498 DENND5B Nonsynonymous SNV S33N 0.016 0.016 0 5 19 6 0.013 0 1 0 0 0 4.073 12278 chr2 234749783 234749783 C G rs17863822 HJURP Nonsynonymous SNV S463T 0.078 0.086 0.058 31 92 33 0.079 17 3 2 0 0 6.395 12279 chr14 105420927 105420927 A G rs879210 AHNAK2 Synonymous SNV P187P 0.524 0.531 0.558 202 615 204 0.518 164 161 51 44 54 0.047 12280 chr14 105421050 105421050 T G rs879209 AHNAK2 Synonymous SNV P146P 0.523 0.529 0.554 203 614 203 0.521 163 161 51 44 55 0.097 12281 chr12 2799987 2799987 C T rs55830098 CACNA1C-AS1 0.069 0.057 0.122 37 81 22 0.095 36 11 2 4 5 Benign 7.347 12282 chr2 219736472 219736472 G A rs13417214 WNT6 Synonymous SNV A189A 0.025 0.029 0.024 14 29 11 0.036 7 0 0 0 0 11.24 12283 chr14 105461067 105461067 C T rs894039 CLBA1 Synonymous SNV L317L 0.819 0.826 0.833 326 961 317 0.836 245 388 128 103 139 2.11 12284 chr2 234750831 234750831 T C rs3806589 HJURP Nonsynonymous SNV R114G 0.596 0.534 0.646 225 700 205 0.577 190 206 57 61 65 1.768 12285 chr14 105609335 105609335 A G rs10149229 JAG2 Synonymous SNV I1100I 0.691 0.688 0.738 290 811 264 0.744 217 276 91 80 112 0.084 12286 chr14 105611282 105611282 A G rs2272591 JAG2 Synonymous SNV A985A 0.682 0.677 0.735 288 801 260 0.738 216 270 87 79 110 0.001 12287 chr2 234905078 234905078 C T rs11563208 TRPM8 Synonymous SNV I1016I 0.285 0.31 0.276 104 335 119 0.267 81 48 18 10 17 15.03 12288 chr14 105617042 105617042 C T rs1057744 JAG2 Nonsynonymous SNV E463K 0.572 0.555 0.551 237 672 213 0.608 162 186 61 43 77 17.12 12289 chr2 234967539 234967539 T A rs593668 SPP2 Synonymous SNV T90T 0.74 0.745 0.752 286 869 286 0.733 221 323 101 81 101 13.45 12290 chr12 52635360 52635360 G A rs999665 KRT7 Synonymous SNV A266A 0.472 0.484 0.452 198 554 186 0.508 133 133 46 35 46 8.179 12291 chr14 105916420 105916420 C T rs4983409 MTA1 Synonymous SNV N89N 0.999 0.997 0.993 389 1173 383 0.997 292 586 191 145 194 12.88 12292 chr14 105930406 105930406 G A rs4983413 MTA1 Nonsynonymous SNV V372I 0.185 0.164 0.139 76 217 63 0.195 41 19 6 4 8 15.75 12293 chr2 236761396 236761396 C T rs13006916 AGAP1 Nonsynonymous SNV R373C 0.553 0.51 0.548 225 649 196 0.577 161 170 49 46 58 14.69 12294 chr12 4671429 4671429 G T rs34206253 DYRK4 Synonymous SNV P6P 0.212 0.211 0.163 88 249 81 0.226 48 24 14 5 8 5.935 12295 chr12 49176805 49176805 C T rs115315671 ADCY6 Nonsynonymous SNV R138H 0.056 0.049 0.048 22 66 19 0.056 14 0 0 0 2 34 12296 chr14 105931028 105931028 A C rs782448833 MTA1 Synonymous SNV P454P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.505 12297 chr2 236957822 236957822 G A rs2034648 AGAP1 Nonsynonymous SNV V618I 0.491 0.484 0.452 188 576 186 0.482 133 142 42 30 42 7.985 12298 chr14 105935824 105935824 G A rs13707 MTA1 Nonsynonymous SNV A612T 0.994 0.997 0.993 388 1167 383 0.995 292 580 191 145 193 10.74 12299 chr12 47629368 47629368 G T rs2244818 PCED1B Synonymous SNV G174G 0.16 0.198 0.18 73 188 76 0.187 53 16 9 7 4 1.102 12300 chr2 237149941 237149941 C T rs6756597 ASB18 Nonsynonymous SNV A104T 0.518 0.557 0.554 193 608 214 0.495 163 161 59 45 36 25.9 12301 chr14 105962234 105962234 T C rs7494350 TEDC1 Synonymous SNV A234A 0.974 0.971 0.956 375 1143 373 0.962 281 556 181 135 181 0.806 12302 chr14 105962369 105962369 A G rs7494717 TEDC1 Synonymous SNV A279A 0.973 0.971 0.956 374 1142 373 0.959 281 555 181 136 180 0.206 12303 chr12 49239467 49239467 - TCTCTATCCCGC DDX23 R32_D33insERDR 0 0.003 0 0 0 1 0 0 0 0 0 0 12304 chr12 4791451 4791451 C T rs34076756 NDUFA9 Nonsynonymous SNV P294L 0.013 0.013 0.014 11 15 5 0.028 4 0 0 0 0 Likely benign 30 12305 chr14 20345346 20345346 A T rs12883767 OR4K2 Nonsynonymous SNV N307I 0.372 0.419 0.344 149 437 161 0.382 101 37 25 14 13 2.958 12306 chr2 237374309 237374309 C T rs35432941 IQCA1 Synonymous SNV Q255Q 0.117 0.12 0.122 55 137 46 0.141 36 3 3 1 7 9.962 12307 chr2 237489904 237489904 C T rs1045879 ACKR3 Synonymous SNV L266L 0.308 0.25 0.248 85 362 96 0.218 73 61 14 9 15 9.428 12308 chr14 20403909 20403909 T C rs2792148 OR4K1 Synonymous SNV F28F 0.406 0.383 0.435 176 477 147 0.451 128 47 10 20 23 0.004 12309 chr2 238434249 238434249 C T rs2292881 MLPH Synonymous SNV L187L 0.107 0.12 0.112 54 126 46 0.138 33 11 5 1 1 12.12 12310 chr14 20404091 20404091 G A rs12885778 OR4K1 Nonsynonymous SNV R89H 0.321 0.367 0.34 128 377 141 0.328 100 36 9 6 8 0.001 12311 chr2 238443226 238443226 A G rs2292884 MLPH Nonsynonymous SNV H347R 0.237 0.253 0.252 99 278 97 0.254 74 37 16 6 17 0.014 12312 chr14 20404614 20404614 C A rs34608158 OR4K1 Nonsynonymous SNV S263R 0.28 0.333 0.303 116 329 128 0.297 89 24 7 6 8 23.2 12313 chr2 238449007 238449007 T C rs3817362 MLPH Nonsynonymous SNV V306A 0.189 0.193 0.16 74 222 74 0.19 47 25 8 1 6 0.001 12314 chr14 20404735 20404735 C T rs34394400 OR4K1 Nonsynonymous SNV R304C 0.302 0.346 0.32 122 354 133 0.313 94 29 8 6 8 22.9 12315 chr2 238449023 238449023 T C rs3817363 MLPH Synonymous SNV D311D 0.125 0.125 0.119 58 147 48 0.149 35 12 5 1 1 0.008 12316 chr14 20404736 20404736 G A rs2792146 OR4K1 Nonsynonymous SNV R304H 0.414 0.393 0.452 177 486 151 0.454 133 50 11 20 24 0.035 12317 chr2 220100553 220100553 C A rs150402081 ANKZF1 Synonymous SNV R433R 0.011 0.013 0.02 5 13 5 0.013 6 0 1 0 0 16.06 12318 chr2 238449107 238449107 A G rs2271809 MLPH Synonymous SNV E339E 0.273 0.273 0.252 108 320 105 0.277 74 45 19 6 20 0.225 12319 chr14 20470399 20470399 G A rs7493807 OR4Q2 Synonymous SNV G26G 0.654 0.638 0.646 259 768 245 0.664 190 257 80 63 83 0.677 12320 chr14 20482471 20482471 C T rs12590785 OR4K14 Synonymous SNV E294E 0.854 0.859 0.864 344 1003 330 0.882 254 432 139 110 152 8.801 12321 chr2 238494681 238494681 G A rs34052613 RAB17 Synonymous SNV Y39Y 0.093 0.107 0.099 38 109 41 0.097 29 6 1 2 4 9.835 12322 chr14 20502120 20502120 C T rs17277032 OR4K13 Synonymous SNV S266S 0.45 0.497 0.442 177 528 191 0.454 130 125 48 27 36 9.414 12323 chr12 48526719 48526719 C T rs11552507 PFKM Synonymous SNV A102A 0.055 0.044 0.024 13 65 17 0.033 7 1 0 0 0 Benign 16.41 12324 chr12 47629476 47629476 T C rs148243841 PCED1B Synonymous SNV D210D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.056 12325 chr14 20528207 20528207 G A rs1958715 OR4L1 Nonsynonymous SNV D2N 0.407 0.414 0.347 161 478 159 0.413 102 103 31 20 37 10.14 12326 chr2 238668802 238668802 A G rs3213868 LRRFIP1 Synonymous SNV T225T 0.246 0.229 0.214 86 289 88 0.221 63 42 7 8 6 0.028 12327 chr12 48090135 48090135 T C rs142330780 RPAP3 Nonsynonymous SNV T157A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 12328 chr2 238990388 238990388 G A rs3210400 SCLY Nonsynonymous SNV A175T 0.406 0.417 0.395 180 477 160 0.462 116 96 29 22 44 14.35 12329 chr14 20528321 20528321 A G rs1958716 OR4L1 Nonsynonymous SNV M40V 0.407 0.411 0.374 161 478 158 0.413 110 103 30 20 37 0.009 12330 chr2 220197321 220197321 C T rs2385405 RESP18 Nonsynonymous SNV E53K 0.332 0.38 0.357 137 390 146 0.351 105 56 31 22 24 0.002 12331 chr14 20528359 20528359 G T rs1959630 OR4L1 Nonsynonymous SNV R52S 0.994 0.995 0.99 389 1167 382 0.997 291 580 190 144 194 0.014 12332 chr12 52822258 52822258 A G rs401926 KRT75 Synonymous SNV C388C 0.615 0.583 0.619 239 722 224 0.613 182 218 63 57 71 11.09 12333 chr2 239006879 239006879 C T rs12993309 SCLY Synonymous SNV F407F 0.146 0.169 0.153 67 171 65 0.172 45 16 2 3 6 11.74 12334 chr12 52824349 52824349 C T rs137863775 KRT75 Synonymous SNV E337E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.36 12335 chr14 20528362 20528362 A G rs1958717 OR4L1 Synonymous SNV S53S 0.407 0.414 0.374 161 478 159 0.413 110 103 31 20 37 0.002 12336 chr2 239007756 239007758 ATT - rs3841572 UBE2F-SCLY 0.496 0.492 0.503 223 582 189 0.572 148 191 64 47 81 12337 chr12 52824352 52824352 G A rs395623 KRT75 Synonymous SNV A336A 0.371 0.323 0.408 132 436 124 0.338 120 73 21 26 18 11.12 12338 chr2 220197388 220197388 C A rs2385404 RESP18 Nonsynonymous SNV E30D 0.332 0.385 0.367 137 390 148 0.351 108 56 31 24 24 23.4 12339 chr14 20528505 20528505 T A rs2775253 OR4L1 Nonsynonymous SNV M101K 0.381 0.383 0.344 148 447 147 0.379 101 86 23 17 31 26.2 12340 chr2 239007806 239007806 A G rs1054640 UBE2F-SCLY 0.606 0.625 0.599 269 711 240 0.69 176 213 79 55 93 0.824 12341 chr12 52825363 52825363 G A rs1798640 KRT75 Synonymous SNV P278P 0.618 0.586 0.622 239 725 225 0.613 183 219 64 58 71 5.42 12342 chr12 49951232 49951232 T C rs2241418 KCNH3 Synonymous SNV G856G 0.104 0.094 0.112 50 122 36 0.128 33 4 1 0 4 0.001 12343 chr12 48177906 48177906 C T rs7306788 HDAC7 Synonymous SNV V925V 0.148 0.141 0.156 50 174 54 0.128 46 11 6 6 3 13.8 12344 chr2 239007850 239007850 T A rs1054641 UBE2F-SCLY 0.509 0.513 0.463 223 597 197 0.572 136 146 57 33 64 2.94 12345 chr14 20528528 20528528 G A rs2775254 OR4L1 Nonsynonymous SNV G109S 0.381 0.383 0.344 148 447 147 0.379 101 86 23 17 31 24.3 12346 chr12 33579085 33579085 G A rs201008299 SYT10 Nonsynonymous SNV T166M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 12347 chr12 52827818 52827818 T C rs298109 KRT75 Nonsynonymous SNV R91G 0.618 0.583 0.622 239 725 224 0.613 183 219 63 58 71 0.004 12348 chr12 49951377 49951377 C T rs59261129 KCNH3 Nonsynonymous SNV R905C 0.052 0.047 0.061 29 61 18 0.074 18 1 0 0 1 23.3 12349 chr2 239007991 239007991 T A rs15787 UBE2F-SCLY 0.507 0.516 0.463 224 595 198 0.574 136 144 58 33 65 6.111 12350 chr12 48181849 48181849 C T rs79823754 HDAC7 Synonymous SNV P741P 0.012 0.013 0.02 4 14 5 0.01 6 0 0 0 0 17.68 12351 chr14 20529019 20529019 C T rs1959629 OR4L1 Synonymous SNV A272A 0.382 0.383 0.337 148 449 147 0.379 99 87 23 17 31 15.35 12352 chr2 239009336 239009336 G A rs61744770 ESPNL Synonymous SNV E92E 0.355 0.362 0.374 164 417 139 0.421 110 103 31 22 43 2.109 12353 chr12 52912906 52912906 G T rs641621 KRT5 Synonymous SNV T198T 0.29 0.255 0.327 114 340 98 0.292 96 44 11 12 10 Benign 7.374 12354 chr12 48190044 48190044 C T rs11831883 HDAC7 Synonymous SNV G230G 0.233 0.214 0.218 89 273 82 0.228 64 25 14 9 15 16.38 12355 chr14 20529043 20529043 C G rs1959628 OR4L1 Synonymous SNV P280P 0.382 0.383 0.337 148 449 147 0.379 99 87 23 17 31 4.94 12356 chr12 49952668 49952668 G A rs2303305 MCRS1 Synonymous SNV L229L 0.072 0.07 0.082 39 85 27 0.1 24 1 0 0 1 6.968 12357 chr14 20586042 20586042 G C rs8005245 OR4K17 Nonsynonymous SNV K131N 0.403 0.451 0.408 138 473 173 0.354 120 101 34 25 22 24 12358 chr2 239010719 239010719 T C rs36066915 ESPNL Synonymous SNV A144A 0.569 0.609 0.595 252 668 234 0.646 175 196 85 56 80 0.072 12359 chr12 52912909 52912909 G T rs641615 KRT5 Nonsynonymous SNV D197E 0.29 0.255 0.327 114 340 98 0.292 96 44 11 12 10 Benign 9.186 12360 chr12 49993678 49993678 C T rs52824916 FAM186B Nonsynonymous SNV R582Q 0.075 0.07 0.082 39 88 27 0.1 24 1 0 0 1 13.33 12361 chr2 239016539 239016539 C G rs935415 ESPNL Synonymous SNV L260L 0.643 0.68 0.663 278 755 261 0.713 195 240 89 67 96 7.63 12362 chr14 20586432 20586432 C T rs9323534 OR4K17 Synonymous SNV Y261Y 0.445 0.505 0.459 157 522 194 0.403 135 115 46 33 31 0.018 12363 chr12 50152193 50152193 G A rs4563 TMBIM6 Synonymous SNV T179T 0.097 0.089 0.105 47 114 34 0.121 31 2 0 0 3 16.82 12364 chr2 239038912 239038912 T C rs57813708 ESPNL Synonymous SNV L151L 0.189 0.232 0.16 67 222 89 0.172 47 21 13 9 2 0.004 12365 chr14 20665790 20665790 T A rs4981822 OR11G2 Nonsynonymous SNV I99N 0.554 0.583 0.503 226 650 224 0.579 148 187 69 33 68 26.1 12366 chr12 50189807 50189807 C A rs2720298 NCKAP5L Synonymous SNV S612S 0.296 0.32 0.34 116 347 123 0.297 100 49 23 11 18 8.731 12367 chr2 239039057 239039057 A G rs13033248 ESPNL Nonsynonymous SNV I200V 0.382 0.427 0.34 133 448 164 0.341 100 80 33 20 22 0.001 12368 chr12 4830000 4830000 T G rs10849133 GALNT8 Nonsynonymous SNV Y53D 0.329 0.344 0.344 135 386 132 0.346 101 61 29 14 19 0.016 12369 chr14 20665840 20665840 G A rs4981088 OR11G2 Nonsynonymous SNV V116I 0.551 0.583 0.503 224 647 224 0.574 148 186 69 33 67 13.27 12370 chr12 3788188 3788188 C T rs3803135 CRACR2A Synonymous SNV K139K 0.089 0.115 0.102 43 104 44 0.11 30 2 1 1 2 12.39 12371 chr2 220348751 220348751 C T rs10755037 SPEG Nonsynonymous SNV P2189L 0.283 0.318 0.269 98 332 122 0.251 79 43 19 9 16 Benign 8.062 12372 chr12 52938512 52938512 G C rs112987888 KRT71 Nonsynonymous SNV T459S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 10.57 12373 chr2 239039075 239039075 G T rs13006204 ESPNL Nonsynonymous SNV A206S 0.38 0.422 0.333 133 446 162 0.341 98 80 32 20 21 0.001 12374 chr12 4835882 4835882 T G rs2286578 GALNT8 Synonymous SNV L132L 0.357 0.393 0.381 142 419 151 0.364 112 69 33 18 23 0.604 12375 chr14 20665887 20665887 G C rs4981823 OR11G2 Synonymous SNV S131S 0.995 0.992 0.983 388 1168 381 0.995 289 581 189 142 193 4.062 12376 chr12 48369793 48369793 T C COL2A1 Nonsynonymous SNV I1115V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 12377 chr14 20666175 20666175 - A rs398077614 OR11G2 Frameshift insertion G230Rfs*74 0.689 0.716 0.643 267 809 275 0.685 189 288 95 56 91 12378 chr2 220353013 220353013 G A rs875098 SPEG Synonymous SNV P2613P 0.286 0.323 0.279 101 336 124 0.259 82 44 19 10 17 13.12 12379 chr2 239039637 239039637 T C rs4663845 ESPNL Nonsynonymous SNV V393A 0.714 0.708 0.721 278 838 272 0.713 212 322 104 79 103 0.001 12380 chr14 20692188 20692188 T C rs12891553 OR11H6 Nonsynonymous SNV I107T 0.48 0.453 0.51 194 563 174 0.497 150 128 36 34 48 0.005 12381 chr12 3789452 3789452 C T rs17836273 CRACR2A Nonsynonymous SNV A98T 0.09 0.12 0.102 43 106 46 0.11 30 2 2 1 2 19.99 12382 chr2 220354108 220354108 A G rs55760516 SPEG Nonsynonymous SNV R2790G 0.332 0.375 0.34 118 390 144 0.303 100 65 29 19 21 17.71 12383 chr14 20692291 20692291 C T rs34693535 OR11H6 Synonymous SNV Y141Y 0.48 0.453 0.51 194 563 174 0.497 150 128 36 34 48 0.733 12384 chr2 239039841 239039841 A G rs10172220 ESPNL Nonsynonymous SNV Q461R 0.485 0.487 0.439 175 569 187 0.449 129 148 45 30 40 0.002 12385 chr12 3806147 3806147 T C rs9788233 CRACR2A Nonsynonymous SNV R7G 0.083 0.107 0.105 39 97 41 0.1 31 1 1 1 1 12.92 12386 chr2 220354365 220354365 C T rs56132883 SPEG Synonymous SNV F2875F 0.287 0.32 0.279 101 337 123 0.259 82 44 19 10 17 11.65 12387 chr14 20692453 20692453 G T rs17211285 OR11H6 Nonsynonymous SNV L195F 0.48 0.451 0.51 194 563 173 0.497 150 128 35 34 48 0.001 12388 chr2 220355529 220355529 A G rs12464085 SPEG Nonsynonymous SNV H3079R 0.335 0.375 0.354 117 393 144 0.3 104 65 29 21 21 Benign 1.463 12389 chr2 239039896 239039896 G C rs10182906 ESPNL Synonymous SNV P479P 0.741 0.732 0.728 283 870 281 0.726 214 325 105 78 104 4.96 12390 chr12 39713776 39713776 C A rs75223821 KIF21A Nonsynonymous SNV E1217D 0.044 0.078 0.051 18 52 30 0.046 15 5 4 1 1 Benign 19.46 12391 chr14 20692574 20692574 T C rs17277221 OR11H6 Nonsynonymous SNV Y236H 0.48 0.453 0.51 194 563 174 0.497 150 128 36 34 48 23.4 12392 chr2 239039970 239039970 C T rs78076311 ESPNL Nonsynonymous SNV A504V 0.037 0.057 0.048 27 44 22 0.069 14 1 0 1 0 15.84 12393 chr2 220356520 220356520 G T rs12473286 SPEG Synonymous SNV P3130P 0.286 0.315 0.282 101 336 121 0.259 83 44 19 11 18 12.95 12394 chr12 39735348 39735348 C A rs79089655 KIF21A Nonsynonymous SNV G614V 0.026 0.023 0.017 21 31 9 0.054 5 0 0 0 0 Benign 20.4 12395 chr14 20692595 20692595 G C rs61993884 OR11H6 Nonsynonymous SNV V243L 0.08 0.094 0.078 29 94 36 0.074 23 4 1 0 0 24.3 12396 chr2 220362557 220362557 C T rs12474050 SPEGNB Synonymous SNV D184D 0.357 0.393 0.381 127 419 151 0.326 112 75 35 23 25 22.8 12397 chr2 239040187 239040187 T C rs12692215 ESPNL Synonymous SNV G576G 0.732 0.724 0.731 282 859 278 0.723 215 317 103 80 103 0.001 12398 chr14 20692643 20692643 T C rs17277228 OR11H6 Nonsynonymous SNV C259R 0.482 0.456 0.51 196 566 175 0.503 150 128 36 34 49 24.8 12399 chr12 52967368 52967368 C G rs141269559 KRT74 Nonsynonymous SNV G65A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.644 12400 chr2 239049540 239049540 G A rs2241985 KLHL30 Nonsynonymous SNV G49S 0.369 0.417 0.35 134 433 160 0.344 103 76 31 21 21 5.986 12401 chr12 40010863 40010863 C T rs61736446 ABCD2 Synonymous SNV K349K 0.026 0.023 0.034 22 31 9 0.056 10 0 0 0 0 15.9 12402 chr2 220402671 220402671 G T rs11689281 ASIC4 Nonsynonymous SNV R616L 0.595 0.633 0.534 234 699 243 0.6 157 198 78 39 73 17.19 12403 chr12 53004437 53004437 G A rs60833636 KRT73 Synonymous SNV I431I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.23 12404 chr14 20711852 20711852 C G rs17277270 OR11H4 Nonsynonymous SNV T301S 0.156 0.174 0.163 66 183 67 0.169 48 13 4 4 7 4.413 12405 chr2 239049928 239049928 G A rs112962843 KLHL30 Nonsynonymous SNV R178Q 0.037 0.052 0.061 29 43 20 0.074 18 1 0 1 0 26.7 12406 chr12 53008372 53008372 C T rs653493 KRT73 Synonymous SNV L270L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 15.53 12407 chr12 50571312 50571312 T G LIMA1 Synonymous SNV P303P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.036 12408 chr14 20764585 20764585 A C rs1953552 TTC5 Synonymous SNV A220A 0.511 0.536 0.503 205 600 206 0.526 148 156 54 36 52 5.744 12409 chr12 53008532 53008532 T C rs649043 KRT73-AS1 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.476 12410 chr2 220402680 220402680 T C rs11695248 ASIC4 Nonsynonymous SNV V619A 0.596 0.638 0.544 237 700 245 0.608 160 200 79 39 74 0.045 12411 chr2 239050033 239050033 C T rs12692216 KLHL30 Nonsynonymous SNV A213V 0.549 0.547 0.534 204 645 210 0.523 157 181 56 47 48 0.508 12412 chr12 32458996 32458996 T C rs36092808 BICD1 Synonymous SNV S315S 0.008 0.005 0.017 13 9 2 0.033 5 0 0 0 0 6.544 12413 chr12 53009041 53009041 G A rs666760 KRT73-AS1 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 5.912 12414 chr14 20770036 20770036 T C rs3742945 TTC5 Nonsynonymous SNV Q47R 0.756 0.776 0.789 299 887 298 0.767 232 341 118 93 113 0.338 12415 chr2 239054358 239054358 C T rs73999842 KLHL30 Synonymous SNV T345T 0.039 0.047 0.058 24 46 18 0.062 17 1 0 3 0 12.7 12416 chr12 4853806 4853806 A G rs34776842 GALNT8 Nonsynonymous SNV E267G 0.081 0.06 0.085 30 95 23 0.077 25 4 2 2 2 21.3 12417 chr12 40688695 40688695 T C rs7966550 LRRK2 Synonymous SNV L953L 0.123 0.12 0.139 54 144 46 0.138 41 14 5 3 8 Benign 5.102 12418 chr2 239059484 239059484 T C rs7605194 KLHL30 Synonymous SNV N505N 0.681 0.677 0.728 262 799 260 0.672 214 272 89 77 93 0.05 12419 chr14 20824181 20824181 T C rs3093930 PARP2 Synonymous SNV Y364Y 0.676 0.659 0.69 266 794 253 0.682 203 271 86 74 90 0.006 12420 chr2 239165636 239165636 C T rs2304670 PER2 Synonymous SNV A664A 0.11 0.096 0.105 45 129 37 0.115 31 8 1 2 2 17.51 12421 chr14 20837701 20837701 G C rs938886 TEP1 Nonsynonymous SNV I2378M 0.25 0.232 0.316 91 294 89 0.233 93 40 16 12 7 9.811 12422 chr12 332362 332362 C T rs2289954 SLC6A13 Synonymous SNV A358A 0.167 0.169 0.201 63 196 65 0.162 59 15 6 9 2 9.607 12423 chr2 239229372 239229372 C A rs13398676 TRAF3IP1 Synonymous SNV T23T 0.762 0.781 0.697 318 895 300 0.815 205 360 123 79 129 22.2 12424 chr12 48538908 48538908 G A rs41291971 PFKM Nonsynonymous SNV R696H 0.016 0.021 0.01 5 19 8 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 29.6 12425 chr14 20841707 20841707 C T rs1713449 TEP1 Nonsynonymous SNV V2106I 0.249 0.221 0.316 90 292 85 0.231 93 40 12 14 8 11.99 12426 chr12 53074088 53074088 C T rs549917182 KRT1 Synonymous SNV G15G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 13.53 12427 chr2 239237953 239237953 G T rs12464423 TRAF3IP1 Nonsynonymous SNV K295N 0.367 0.393 0.378 172 431 151 0.441 111 80 34 20 31 14.62 12428 chr12 247923 247923 A G rs75677829 IQSEC3 Nonsynonymous SNV D162G 0.087 0.089 0.116 43 102 34 0.11 34 7 2 4 6 0.475 12429 chr14 20847202 20847202 A G rs938887 TEP1 Synonymous SNV D1622D 0.243 0.221 0.303 92 285 85 0.236 89 40 9 15 4 0.029 12430 chr12 41587972 41587972 T C rs73117080 PDZRN4 Synonymous SNV I275I 0.038 0.039 0.031 20 45 15 0.051 9 0 0 0 0 8.593 12431 chr14 20850093 20850093 C T rs1713456 TEP1 Nonsynonymous SNV C1360Y 0.213 0.185 0.279 81 250 71 0.208 82 27 8 13 9 9.096 12432 chr2 240003870 240003870 G A rs1063639 HDAC4 Synonymous SNV P855P 0.486 0.516 0.476 174 571 198 0.446 140 143 54 30 36 10.75 12433 chr12 53086393 53086393 A T rs368607085 KRT77 Synonymous SNV A413A 0.004 0.003 0 0 5 1 0 0 2 0 0 0 0.208 12434 chr2 240912983 240912983 G T rs73105362 NDUFA10 Synonymous SNV L365L 0.182 0.151 0.16 67 214 58 0.172 47 19 9 4 7 0.665 12435 chr14 20852029 20852029 A G rs1760904 TEP1 Nonsynonymous SNV S1087P 0.516 0.479 0.551 177 606 184 0.454 162 158 43 44 33 6.485 12436 chr2 240946766 240946766 T C rs13848 NDUFA10 Synonymous SNV Q257Q 0.325 0.331 0.221 108 381 127 0.277 65 61 22 10 14 Benign 0.048 12437 chr14 20852770 20852770 G T rs1713458 TEP1 Synonymous SNV I962I 0.158 0.138 0.207 59 185 53 0.151 61 14 4 6 4 5.346 12438 chr2 240961728 240961728 T C rs2083411 NDUFA10 Synonymous SNV K35K 0.652 0.615 0.619 252 766 236 0.646 182 250 75 56 79 Benign 0.377 12439 chr14 20852817 20852817 G A rs1760903 TEP1 Nonsynonymous SNV R947C 0.508 0.458 0.534 175 596 176 0.449 157 151 40 44 33 15.34 12440 chr2 241066280 241066280 C T rs4292120 COPS9 Synonymous SNV E153E 0.555 0.555 0.534 234 651 213 0.6 157 178 58 41 77 8.617 12441 chr12 49689597 49689597 G C rs7488343 LOC101927267 0.233 0.263 0.129 98 274 101 0.251 38 40 14 7 10 not provided 5.118 12442 chr14 20854734 20854734 A G rs945011 TEP1 Synonymous SNV H803H 0.997 0.987 0.993 386 1170 379 0.99 292 583 187 145 191 1.574 12443 chr2 241401741 241401741 C T rs1042829 GPC1 Synonymous SNV R153R 0.139 0.154 0.248 59 163 59 0.151 73 17 7 11 3 16.98 12444 chr12 24970981 24970981 A G rs756053143 BCAT1 Synonymous SNV Y313Y 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 8.113 12445 chr12 49690337 49690337 T C rs2070760 LOC101927267 0.17 0.185 0.156 80 199 71 0.205 46 22 8 1 7 not provided 6.479 12446 chr14 20863677 20863677 C A rs2228036 TEP1 Synonymous SNV R512R 0.279 0.247 0.34 107 327 95 0.274 100 53 11 19 8 11.31 12447 chr14 20871973 20871973 T C rs2228035 TEP1 Nonsynonymous SNV K368R 0.038 0.055 0.054 24 45 21 0.062 16 0 0 0 0 26.7 12448 chr2 220432957 220432957 G A rs35009641 OBSL1 Nonsynonymous SNV R368C 0.095 0.104 0.068 38 111 40 0.097 20 6 1 0 1 Benign 26.3 12449 chr12 49691250 49691250 A G rs73112143 PRPH Synonymous SNV K369K 0.17 0.185 0.15 80 199 71 0.205 44 22 8 1 7 not provided 17.24 12450 chr2 241405528 241405528 A G rs2228331 GPC1 Nonsynonymous SNV S500G 0.761 0.727 0.633 281 894 279 0.721 186 344 99 57 94 0.008 12451 chr12 53162528 53162528 G A rs2280480 KRT76 Nonsynonymous SNV T629M 0.34 0.302 0.34 145 399 116 0.372 100 75 21 17 30 22.9 12452 chr14 20872881 20872881 G T rs1760898 TEP1 Nonsynonymous SNV N307K 0.19 0.214 0.228 73 223 82 0.187 67 19 7 7 10 9.531 12453 chr2 220473355 220473355 G A rs673951 STK11IP Nonsynonymous SNV V552I 0.297 0.266 0.269 107 349 102 0.274 79 55 11 10 13 4.425 12454 chr2 241512581 241512581 G A rs112339259 RNPEPL1 Nonsynonymous SNV E242K 0.024 0.01 0.027 3 28 4 0.008 8 2 0 0 0 10.64 12455 chr12 50037071 50037071 G A rs115544158 PRPF40B Synonymous SNV R736R 0.008 0.016 0.014 3 9 6 0.008 4 0 0 0 0 11.36 12456 chr12 53162638 53162638 G A rs2280479 KRT76 Synonymous SNV S592S 0.032 0.036 0.048 11 38 14 0.028 14 1 1 1 0 9.712 12457 chr14 20876253 20876253 A G rs1760897 TEP1 Nonsynonymous SNV S116P 0.258 0.263 0.333 106 303 101 0.272 98 39 17 13 16 0.003 12458 chr2 241537421 241537421 G A rs3749166 CAPN10 Synonymous SNV A465A 0.549 0.557 0.517 201 644 214 0.515 152 178 50 32 44 7.264 12459 chr14 20897064 20897064 C T rs7145318 KLHL33 Nonsynonymous SNV A516T 0.63 0.596 0.663 260 740 229 0.667 195 240 73 66 83 0.734 12460 chr2 241538074 241538074 A G rs2975766 CAPN10 Nonsynonymous SNV I511V 0.948 0.945 0.956 372 1113 363 0.954 281 528 171 134 177 0.012 12461 chr12 50189834 50189834 T G rs2603104 NCKAP5L Synonymous SNV V603V 0.304 0.331 0.371 123 357 127 0.315 109 55 25 16 18 0.213 12462 chr12 53167395 53167395 C T rs11170271 KRT76 Nonsynonymous SNV A283T 0.34 0.302 0.34 145 399 116 0.372 100 75 21 17 30 26.9 12463 chr14 20897676 20897676 T C rs1953225 KLHL33 Nonsynonymous SNV E345G 0.203 0.195 0.201 100 238 75 0.256 59 23 9 9 9 14.31 12464 chr12 48884610 48884610 C T rs61940778 C12orf54 Nonsynonymous SNV R62W 0.083 0.063 0.048 24 98 24 0.062 14 6 1 0 2 26.8 12465 chr2 241558397 241558397 G A rs6437353 GPR35 Nonsynonymous SNV R13H 0.434 0.404 0.401 158 509 155 0.405 118 112 22 21 29 3.019 12466 chr2 220497702 220497702 C T rs35138558 SLC4A3 Synonymous SNV S443S 0.011 0.013 0.017 2 13 5 0.005 5 0 0 0 0 Benign 14.12 12467 chr12 53186088 53186088 G C rs3887954 KRT3 Nonsynonymous SNV R375G 0.624 0.641 0.592 229 732 246 0.587 174 228 79 52 65 23.9 12468 chr14 20903349 20903349 T C rs1713408 KLHL33 Nonsynonymous SNV R208G 0 0 0.976 0 0 0 0 287 0 0 141 0 0.326 12469 chr14 20903778 20903778 G A rs8017682 KLHL33 Nonsynonymous SNV L65F 0 0 0.163 0 0 0 0 48 0 0 5 0 14.72 12470 chr2 241570249 241570249 A C rs3749172 GPR35 Nonsynonymous SNV S294R 0.532 0.529 0.476 224 625 203 0.574 140 167 50 29 56 0.01 12471 chr14 20903906 20903906 C T rs8017603 KLHL33 Nonsynonymous SNV R22K 0 0 0.582 0 0 0 0 171 0 0 50 0 17.72 12472 chr12 25679729 25679729 C T rs149733853 LMNTD1 Nonsynonymous SNV V134I 0.013 0.016 0 6 15 6 0.015 0 0 0 0 0 0.024 12473 chr14 20916958 20916958 T C rs938883 OSGEP Synonymous SNV L190L 0.613 0.633 0.629 228 720 243 0.585 185 225 79 55 64 8.337 12474 chr14 20920250 20920250 T C rs2275007 OSGEP Synonymous SNV Q98Q 0.65 0.638 0.69 235 763 245 0.603 203 252 79 69 68 0.003 12475 chr14 20925154 20925154 T G rs1130409 APEX1 Nonsynonymous SNV D148E 0.399 0.375 0.449 139 468 144 0.356 132 82 24 30 22 0.002 12476 chr2 241808314 241808314 C T rs34116584 AGXT Nonsynonymous SNV P11L 0.18 0.185 0.197 72 211 71 0.185 58 15 8 3 9 Benign/Likely benign 25.4 12477 chr12 53189577 53189577 G A rs62617086 KRT3 Nonsynonymous SNV R84W 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 1 Benign 23.3 12478 chr2 220502367 220502367 A C rs635311 SLC4A3 Nonsynonymous SNV D894A 0.726 0.685 0.68 281 852 263 0.721 200 310 87 68 104 0.715 12479 chr12 50232691 50232691 G A rs4898510 BCDIN3D Synonymous SNV V114V 0.045 0.07 0.034 25 53 27 0.064 10 0 1 0 0 12.84 12480 chr14 21024619 21024619 A G rs1243647 RNASE9 Nonsynonymous SNV S204P 0.845 0.794 0.81 332 992 305 0.851 238 418 119 97 143 2.371 12481 chr2 241808685 241808685 C T rs35698882 AGXT Synonymous SNV A88A 0.182 0.185 0.204 72 214 71 0.185 60 15 8 3 9 Benign 11.37 12482 chr12 53189696 53189696 C G rs28721426 KRT3 Nonsynonymous SNV G44A 0.152 0.198 0.163 61 179 76 0.156 48 17 4 4 4 8.723 12483 chr2 220505265 220505265 T C rs684428 SLC4A3 Synonymous SNV L1158L 0.795 0.781 0.769 302 933 300 0.774 226 369 114 86 120 3.471 12484 chr12 50400240 50400240 C T RACGAP1 Nonsynonymous SNV A31T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 29.3 12485 chr14 21024786 21024786 A G rs12590446 RNASE9 Nonsynonymous SNV F148S 0.829 0.779 0.789 330 973 299 0.846 232 404 113 92 141 0.001 12486 chr2 222308226 222308226 T C rs10498111 EPHA4 Synonymous SNV K574K 0.016 0.01 0.014 6 19 4 0.015 4 1 0 0 0 8.325 12487 chr2 241817516 241817516 A G rs4426527 AGXT Nonsynonymous SNV I340M 0.187 0.188 0.207 76 219 72 0.195 61 17 9 3 8 Benign/Likely benign 0.001 12488 chr12 53202183 53202183 C G rs7956809 KRT4 Synonymous SNV S340S 0.092 0.117 0.102 36 108 45 0.092 30 4 1 3 3 Benign 7.728 12489 chr12 46285585 46285585 G C rs201268655 ARID2 Nonsynonymous SNV V1649L 0.004 0.026 0.003 5 5 10 0.013 1 0 0 0 0 Benign 22.5 12490 chr14 21052259 21052259 T C rs1429539 RNASE11 Synonymous SNV T125T 0.446 0.474 0.388 184 524 182 0.472 114 111 38 23 45 0.009 12491 chr12 53205757 53205757 T C rs7959052 KRT4 Nonsynonymous SNV Q156R 0.152 0.188 0.163 66 179 72 0.169 48 19 7 3 5 Benign 12.36 12492 chr12 50526814 50526814 G A rs2242507 CERS5 Nonsynonymous SNV L355F 0.248 0.221 0.221 82 291 85 0.21 65 35 11 7 9 21.4 12493 chr14 21108909 21108909 G A rs17277515 OR6S1 Synonymous SNV G314G 0.093 0.102 0.075 28 109 39 0.072 22 2 4 0 0 10.31 12494 chr2 241828034 241828034 A G rs6707568 MAB21L4 Nonsynonymous SNV L309P 0.987 0.984 0.976 383 1159 378 0.982 287 576 188 140 188 0.519 12495 chr14 21109141 21109141 C T rs17277522 OR6S1 Nonsynonymous SNV R237H 0.44 0.411 0.415 156 516 158 0.4 122 109 32 28 33 29.7 12496 chr12 53207439 53207439 G A rs17119475 KRT4 Nonsynonymous SNV T135M 0.003 0.005 0.01 3 3 2 0.008 3 0 0 0 1 Benign/Likely benign 22.3 12497 chr12 46320944 46320944 C T rs28930670 SCAF11 Nonsynonymous SNV R847H 0.014 0.01 0.014 7 17 4 0.018 4 0 0 0 0 28.6 12498 chr14 21109170 21109170 T A rs11628297 OR6S1 Synonymous SNV A227A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.322 12499 chr14 21109278 21109278 A T rs11627438 OR6S1 Synonymous SNV A191A 0.56 0.589 0.582 233 658 226 0.597 171 180 66 52 71 0.02 12500 chr12 27110630 27110630 A C FGFR1OP2 Nonsynonymous SNV K117T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 12501 chr12 48920073 48920073 G A rs61941963 OR8S1 Nonsynonymous SNV R220H 0.185 0.161 0.163 64 217 62 0.164 48 23 4 3 7 5.156 12502 chr2 241865156 241865156 T C rs4675847 CROCC2 Synonymous SNV C168C 0.522 0.534 0.531 183 613 205 0.469 156 161 56 45 36 0.004 12503 chr12 53207628 53207628 G A rs2638525 KRT4 Nonsynonymous SNV A72V 0.147 0.185 0.167 67 172 71 0.172 49 18 6 3 5 Benign 2.431 12504 chr14 21109385 21109385 C T rs11622969 OR6S1 Nonsynonymous SNV V156I 0.543 0.576 0.575 229 637 221 0.587 169 168 62 50 68 9.275 12505 chr2 241872597 241872597 A G rs4441463 CROCC2 Nonsynonymous SNV Q434R 0.503 0.516 0.52 175 591 198 0.449 153 159 52 44 36 0.001 12506 chr14 21109671 21109671 A G rs11627574 OR6S1 Synonymous SNV P60P 0.561 0.591 0.582 233 659 227 0.597 171 181 67 52 71 0.018 12507 chr14 21109726 21109726 G A rs11622794 OR6S1 Nonsynonymous SNV T42I 0.56 0.589 0.582 233 658 226 0.597 171 180 66 52 71 8.776 12508 chr12 53216989 53216989 G A rs17688627 KRT79 Nonsynonymous SNV A393V 0.152 0.115 0.201 51 178 44 0.131 59 10 2 10 4 25.3 12509 chr2 241898824 241898824 A G rs10169006 CROCC2 Nonsynonymous SNV Q1017R 0.509 0.526 0.514 179 597 202 0.459 151 153 53 42 35 5.248 12510 chr12 27553566 27553566 A G rs1037921 ARNTL2 Nonsynonymous SNV N303S 0.048 0.039 0.065 20 56 15 0.051 19 1 0 1 0 0.013 12511 chr2 241904001 241904001 G C rs11688859 CROCC2 Nonsynonymous SNV G1142R 0.461 0.482 0.439 164 541 185 0.421 129 158 56 42 36 1.606 12512 chr14 21162053 21162053 T G rs11701 ANG Synonymous SNV G110G 0.139 0.146 0.173 63 163 56 0.162 51 12 1 5 4 Benign 0.434 12513 chr14 21215997 21215997 C T rs11847654 EDDM3A Synonymous SNV S86S 0.266 0.286 0.241 106 312 110 0.272 71 39 16 10 13 14.5 12514 chr2 223918019 223918019 G A rs17221840 KCNE4 Synonymous SNV E208E 0.053 0.042 0.051 15 62 16 0.038 15 1 0 0 0 3.286 12515 chr2 241905779 241905779 A G rs12466789 CROCC2 Nonsynonymous SNV I1367V 0.518 0.521 0.517 179 608 200 0.459 152 160 54 43 35 2.656 12516 chr2 241922430 241922430 T C rs4577273 CROCC2 Nonsynonymous SNV L1512P 0.159 0.135 0.184 52 187 52 0.133 54 12 2 6 5 13.45 12517 chr14 21238318 21238318 G A rs3827905 EDDM3B Synonymous SNV S3S 0.621 0.594 0.633 228 729 228 0.585 186 230 67 64 68 7.508 12518 chr2 224642579 224642579 A C rs116107386 AP1S3 Nonsynonymous SNV F4C 0.008 0.005 0.017 4 9 2 0.01 5 0 0 0 0 risk factor 27.2 12519 chr2 241929228 241929228 A G rs10200024 CROCC2 Nonsynonymous SNV Q1614R 0.612 0.62 0.66 260 719 238 0.667 194 221 76 63 88 0.002 12520 chr14 21467913 21467913 T G rs2234632 SLC39A2 Nonsynonymous SNV L43R 0.727 0.74 0.752 286 853 284 0.733 221 307 105 85 100 0.003 12521 chr2 242021742 242021742 G T rs2108485 SNED1 Nonsynonymous SNV A1362S 0.204 0.219 0.167 73 240 84 0.187 49 25 9 6 6 8.569 12522 chr12 51773557 51773557 G A rs2278216 GALNT6 Synonymous SNV L3L 0.074 0.07 0.075 22 87 27 0.056 22 5 1 2 0 11.62 12523 chr2 224824617 224824617 A G rs11546405 MRPL44 Synonymous SNV E182E 0.099 0.096 0.143 51 116 37 0.131 42 5 3 1 5 Benign 0.167 12524 chr14 21498825 21498825 A G rs764259293 TPPP2 Nonsynonymous SNV N29D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 12525 chr12 51856159 51856159 C T rs71449805 SLC4A8 Synonymous SNV F389F 0.043 0.049 0.041 13 51 19 0.033 12 2 0 1 0 16.21 12526 chr2 224862842 224862842 A G rs12457 SERPINE2 Synonymous SNV N159N 0.295 0.307 0.289 106 346 118 0.272 85 51 13 7 14 0.352 12527 chr2 242046785 242046785 A C rs1131293 PASK Nonsynonymous SNV F1273C 0.094 0.104 0.102 34 110 40 0.087 30 2 2 3 2 11.1 12528 chr12 53298606 53298606 A G rs57749775 KRT8 Nonsynonymous SNV Y54H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 2.447 12529 chr14 21511458 21511458 G C rs1263872 RNASE7 Nonsynonymous SNV A103P 0.897 0.888 0.895 349 1053 341 0.895 263 475 150 116 156 0.002 12530 chr2 242051777 242051777 G A rs2074824 PASK Synonymous SNV A1144A 0.094 0.104 0.102 33 110 40 0.085 30 2 2 3 2 7.75 12531 chr12 53298769 53298769 A G rs1065306 KRT8 Synonymous SNV S27S 0.382 0.328 0.259 147 448 126 0.377 76 95 19 15 22 4.719 12532 chr2 224866387 224866387 G A rs12138 SERPINE2 Synonymous SNV L77L 0.084 0.122 0.078 37 99 47 0.095 23 3 5 1 1 7.814 12533 chr14 21511497 21511497 C T rs1243469 RNASE7 Nonsynonymous SNV H116Y 0.895 0.888 0.895 348 1051 341 0.892 263 473 150 116 155 2.418 12534 chr2 242054403 242054403 G A rs3815305 PASK Nonsynonymous SNV R1130W 0.088 0.102 0.085 33 103 39 0.085 25 3 2 3 3 3.666 12535 chr12 29598292 29598292 G A rs7967676 OVCH1 Nonsynonymous SNV P969S 0.036 0.036 0.014 22 42 14 0.056 4 2 0 0 1 0.002 12536 chr12 53343074 53343074 T C rs75174163 KRT18 Synonymous SNV A39A 0.392 0.38 0.105 159 460 146 0.408 31 0 0 0 0 9.394 12537 chr2 224866427 224866427 A G rs34078713 SERPINE2 Nonsynonymous SNV M64T 0.009 0.018 0.014 5 10 7 0.013 4 0 0 0 0 26.7 12538 chr12 4737042 4737042 G A rs7972737 AKAP3 Synonymous SNV H342H 0.477 0.552 0.493 196 560 212 0.503 145 141 60 34 57 0.004 12539 chr12 45173737 45173737 C T rs202194885 NELL2 Nonsynonymous SNV R135H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.4 12540 chr14 21542753 21542753 G A rs1243472 ARHGEF40 Synonymous SNV A288A 0.195 0.198 0.228 79 229 76 0.203 67 34 8 5 9 1.014 12541 chr12 53343084 53343084 G C rs75441140 KRT18 Nonsynonymous SNV G43R 0.336 0.299 0.119 140 395 115 0.359 35 0 0 0 0 23.6 12542 chr2 242062162 242062162 C T rs2302050 PASK Synonymous SNV K1019K 0.088 0.102 0.092 33 103 39 0.085 27 2 2 3 3 13.6 12543 chr2 224866576 224866576 C A rs12436 SERPINE2 Synonymous SNV T14T 0.096 0.122 0.082 41 113 47 0.105 24 6 5 1 2 15.51 12544 chr14 21542766 21542766 A G rs12889267 ARHGEF40 Nonsynonymous SNV K293E 0.093 0.099 0.095 43 109 38 0.11 28 5 1 0 4 9.813 12545 chr12 53343098 53343098 C T rs80004568 KRT18 Synonymous SNV S47S 0.405 0.398 0.129 165 476 153 0.423 38 0 0 0 0 19.29 12546 chr2 242066789 242066789 A G rs2240543 PASK Nonsynonymous SNV L514S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.006 12547 chr12 53343099 53343099 G A KRT18 Nonsynonymous SNV V48M 0.391 0.375 0.126 149 459 144 0.382 37 0 0 0 0 14.15 12548 chr12 29614709 29614709 A G rs73278740 OVCH1-AS1 0.081 0.06 0.088 49 95 23 0.126 26 14 0 2 8 2.788 12549 chr2 242129487 242129487 G T rs11695874 ANO7 Synonymous SNV R3R 0.255 0.221 0.187 97 299 85 0.249 55 45 13 7 9 0.269 12550 chr14 21549893 21549893 G C rs7143633 ARHGEF40 Nonsynonymous SNV V242L 0.847 0.859 0.847 336 994 330 0.862 249 430 143 104 146 4.916 12551 chr12 52308344 52308344 G A rs1058563 ACVRL1 Synonymous SNV V249V 0.013 0.016 0.01 2 15 6 0.005 3 0 0 0 0 Benign 12.11 12552 chr12 51112586 51112586 T C rs3803181 DIP2B Synonymous SNV N982N 0.018 0.018 0.037 11 21 7 0.028 11 0 0 2 0 8.033 12553 chr12 53343105 53343105 C T rs78479490 KRT18 Nonsynonymous SNV R50C 0.394 0.378 0.136 157 462 145 0.403 40 0 0 0 0 23.5 12554 chr12 49418435 49418435 A C rs55776396 KMT2D Synonymous SNV L5326L 0.031 0.049 0.031 11 36 19 0.028 9 1 2 0 1 Benign/Likely benign 0.065 12555 chr2 242151585 242151585 C T rs7593101 ANO7 Synonymous SNV Y546Y 0.306 0.331 0.34 131 359 127 0.336 100 44 25 17 28 10.21 12556 chr14 21551069 21551069 T C rs1958396 ARHGEF40 Nonsynonymous SNV L475S 0.916 0.919 0.915 360 1075 353 0.923 269 495 162 123 166 13.15 12557 chr12 29617736 29617736 C T rs3741751 OVCH1-AS1 0.064 0.049 0.085 51 75 19 0.131 25 14 0 3 8 3.722 12558 chr12 52448859 52448859 C T rs2230439 NR4A1 Synonymous SNV P249P 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 9.464 12559 chr12 53343120 53343120 A C rs78718957 KRT18 Synonymous SNV R55R 0.317 0.297 0.112 135 372 114 0.346 33 0 0 0 0 0.034 12560 chr2 242157228 242157228 G T rs78605785 ANO7 Synonymous SNV P700P 0.28 0.307 0.316 128 329 118 0.328 93 38 20 19 24 15.28 12561 chr12 51236802 51236802 T C rs10876100 TMPRSS12 Nonsynonymous SNV Y19H 0.187 0.201 0.19 67 220 77 0.172 56 19 11 8 4 0.002 12562 chr12 53343124 53343124 G A rs76183244 KRT18 Nonsynonymous SNV G56D 0.278 0.266 0.095 124 326 102 0.318 28 0 0 0 0 15.44 12563 chr12 49426460 49426460 A G rs80132640 KMT2D Nonsynonymous SNV S4010P 0.031 0.049 0.031 11 36 19 0.028 9 1 2 0 1 Benign/Likely benign 1.097 12564 chr12 52450384 52450384 A G rs2603753 NR4A1 Synonymous SNV A371A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 8.703 12565 chr2 242163359 242163359 G A rs7590653 ANO7 Nonsynonymous SNV E858K 0.275 0.299 0.33 134 323 115 0.344 97 39 19 15 25 11.17 12566 chr2 227924262 227924262 C T rs762139460 COL4A4 Nonsynonymous SNV G748S 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Likely pathogenic 31 12567 chr12 52452606 52452606 C T rs2230440 NR4A1 Synonymous SNV L559L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 13.86 12568 chr14 21560753 21560758 GAGGCT - rs11278664 ZNF219 Q233_P234del 0.166 0.193 0.197 61 195 74 0.156 58 17 11 6 6 12569 chr12 53343131 53343131 - A KRT18 Frameshift insertion G59Rfs*97 0.24 0.216 0.071 109 282 83 0.279 21 0 0 0 0 12570 chr12 53343132 53343132 G T KRT18 Nonsynonymous SNV G59W 0.233 0.201 0.068 105 273 77 0.269 20 0 0 0 0 25.8 12571 chr14 21623290 21623290 T C rs7145814 OR5AU1 Nonsynonymous SNV I248V 0.834 0.797 0.813 313 979 306 0.803 239 406 121 95 124 0.002 12572 chr2 242179134 242179134 G A rs10153800 HDLBP Synonymous SNV G798G 0.29 0.323 0.32 132 340 124 0.338 94 44 21 15 23 12.02 12573 chr12 51354803 51354803 C T rs12306808 HIGD1C Synonymous SNV Y49Y 0.124 0.141 0.146 36 145 54 0.092 43 11 4 2 2 0.451 12574 chr12 53343134 53343134 G T rs76187914 KRT18 Synonymous SNV G59G 0.227 0.188 0.068 100 266 72 0.256 20 0 0 0 0 7.811 12575 chr2 242192848 242192848 T C rs7578199 HDLBP Nonsynonymous SNV N385S 0.29 0.32 0.316 132 341 123 0.338 93 45 21 15 23 0.001 12576 chr14 21623648 21623648 G A rs7161544 OR5AU1 Synonymous SNV N128N 0.644 0.641 0.626 230 756 246 0.59 184 239 77 58 67 0.008 12577 chr12 53343209 53343209 G A rs79346135 KRT18 Nonsynonymous SNV M84I 0.089 0.055 0.041 37 104 21 0.095 12 0 0 0 0 24.4 12578 chr12 49448463 49448463 C T rs55865069 KMT2D Nonsynonymous SNV R83Q 0.032 0.049 0.027 11 37 19 0.028 8 1 2 0 1 Benign/Likely benign 19.8 12579 chr14 21623836 21623836 G A rs4982419 OR5AU1 Nonsynonymous SNV L66F 0.798 0.773 0.789 301 937 297 0.772 232 373 115 91 114 23.8 12580 chr12 4677211 4677211 G T rs10444471 DYRK4 Synonymous SNV A43A 0.046 0.044 0.041 14 54 17 0.036 12 1 0 0 0 1.006 12581 chr2 242203916 242203916 A C rs11891776 HDLBP Nonsynonymous SNV S61A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.234 12582 chr14 21770681 21770681 A G rs17792599 RPGRIP1 Synonymous SNV P175P 0.225 0.237 0.248 93 264 91 0.238 73 39 8 12 12 Benign 0.016 12583 chr2 228128540 228128540 C T rs10205042 COL4A3 Synonymous SNV L399L 0.638 0.589 0.677 261 749 226 0.669 199 247 61 73 87 Benign 14.4 12584 chr14 21829129 21829129 C G rs3762158 SUPT16H Synonymous SNV G644G 0.937 0.893 0.929 354 1100 343 0.908 273 514 152 129 159 11.29 12585 chr2 228128568 228128568 G A rs34505188 COL4A3 Nonsynonymous SNV R408H 0.122 0.109 0.143 50 143 42 0.128 42 11 2 5 4 Benign 20.3 12586 chr2 242256951 242256951 T - rs750805176 SEPTIN2 C43Vfs*23 0.398 0.409 0 168 467 157 0.431 0 0 0 0 0 12587 chr14 21831052 21831052 T C rs10138699 SUPT16H Synonymous SNV P522P 0.923 0.891 0.898 343 1084 342 0.879 264 501 151 119 150 6.419 12588 chr2 242312572 242312572 G A rs61739702 FARP2 Nonsynonymous SNV R17H 0.038 0.052 0.095 33 45 20 0.085 28 0 1 0 0 29.1 12589 chr12 53445704 53445704 A G rs113829803 TNS2 Synonymous SNV A57A 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 Benign 10.62 12590 chr14 21860360 21860360 G A rs1998332 SNORD9 0 0 0.895 0 0 0 0 263 0 0 119 0 6.67 12591 chr14 21871653 21871653 C T rs8022395 CHD8 Synonymous SNV V1159V 0.94 0.896 0.939 355 1104 344 0.91 276 517 152 130 160 Benign 12.71 12592 chr2 228131169 228131169 A G rs11677877 COL4A3 Nonsynonymous SNV H451R 0.122 0.109 0.143 51 143 42 0.131 42 11 2 5 4 Benign/Likely benign 0.001 12593 chr2 242350466 242350466 A G rs2240479 FARP2 Synonymous SNV Q143Q 0.125 0.135 0.105 48 147 52 0.123 31 7 2 4 1 7.402 12594 chr14 21967916 21967916 A G rs1139130 METTL3 Synonymous SNV N445N 0.537 0.521 0.548 220 630 200 0.564 161 171 52 45 59 2.911 12595 chr2 242572846 242572846 A G rs3208142 THAP4 Synonymous SNV S242S 0.292 0.297 0.371 119 343 114 0.305 109 56 17 21 14 0.863 12596 chr12 49717533 49717533 A C rs8285 TROAP Synonymous SNV R48R 0.026 0.023 0.041 7 30 9 0.018 12 1 0 0 0 17.37 12597 chr12 48359676 48359676 G T rs35000511 TMEM106C Nonsynonymous SNV V103F 0.031 0.026 0.027 7 36 10 0.018 8 0 0 0 0 22.1 12598 chr14 21991630 21991630 C T rs61746515 SALL2 Synonymous SNV G742G 0.023 0.016 0.041 19 27 6 0.049 12 0 0 0 0 10.31 12599 chr2 228131752 228131752 G A rs34019152 COL4A3 Synonymous SNV G484G 0.118 0.109 0.143 50 139 42 0.128 42 11 2 5 4 Benign 3.616 12600 chr12 30878976 30878976 G C rs73079976 CAPRIN2 Nonsynonymous SNV P277R 0.047 0.081 0.034 19 55 31 0.049 10 1 2 0 1 28 12601 chr12 49723963 49723963 A G rs4243545 TROAP Synonymous SNV E445E 0.134 0.161 0.099 69 157 62 0.177 29 7 6 1 5 0.555 12602 chr2 242573211 242573211 T C rs7424328 THAP4 Nonsynonymous SNV S121G 0.398 0.354 0.391 146 467 136 0.374 115 83 26 21 31 0.001 12603 chr2 228135631 228135631 C T rs28381984 COL4A3 Nonsynonymous SNV P574L 0.348 0.339 0.401 136 409 130 0.349 118 67 20 25 23 Benign 26.1 12604 chr14 21993498 21993498 G A rs1263811 SALL2 Nonsynonymous SNV P122S 0.805 0.779 0.857 309 945 299 0.792 252 377 113 107 122 0.002 12605 chr12 49724153 49724153 T A rs143183472 TROAP Nonsynonymous SNV C509S 0.014 0.016 0.014 4 16 6 0.01 4 0 0 0 0 0.04 12606 chr12 48368541 48368541 C T rs12721427 COL2A1 Nonsynonymous SNV V1262I 0.03 0.026 0.027 9 35 10 0.023 8 0 0 0 0 Benign/Likely benign 8.137 12607 chr12 53509933 53509933 C T rs2272296 SOAT2 Nonsynonymous SNV T254I 0.17 0.18 0.173 72 200 69 0.185 51 20 8 5 6 12.43 12608 chr2 242610773 242610773 T A rs7601000 ATG4B Nonsynonymous SNV L354Q 0.83 0.846 0.84 314 974 325 0.805 247 400 138 101 126 14.65 12609 chr14 22038210 22038210 G T rs17792766 OR10G3 Synonymous SNV I222I 0.181 0.201 0.187 78 213 77 0.2 55 25 12 6 9 5.958 12610 chr2 228197238 228197238 G A rs11557342 MFF Synonymous SNV T95T 0.116 0.115 0.126 52 136 44 0.133 37 9 2 3 4 Benign 12.56 12611 chr12 30882157 30882157 G A rs189302779 CAPRIN2 Nonsynonymous SNV R70C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23 12612 chr14 22038450 22038450 G A rs11626669 OR10G3 Synonymous SNV S142S 0.394 0.411 0.442 129 462 158 0.331 130 87 37 24 19 5.786 12613 chr12 53563865 53563865 G A rs11170453 CSAD Synonymous SNV A231A 0.08 0.07 0.061 27 94 27 0.069 18 3 0 0 2 13.45 12614 chr2 228416712 228416712 A G rs13426457 AGFG1 Synonymous SNV T432T 0.74 0.711 0.738 305 869 273 0.782 217 324 95 82 119 2.071 12615 chr12 48378380 48378380 A G rs41317939 COL2A1 Synonymous SNV G543G 0.027 0.016 0.027 6 32 6 0.015 8 0 0 0 0 Benign/Likely benign 6.629 12616 chr2 242618050 242618050 A G rs1131195 DTYMK Synonymous SNV D72D 0.486 0.51 0.517 191 570 196 0.49 152 136 49 41 42 1.509 12617 chr14 22038525 22038525 G T rs11626693 OR10G3 Synonymous SNV T117T 0.283 0.307 0.316 125 332 118 0.321 93 47 19 11 18 0.049 12618 chr14 22038659 22038659 T C rs17792778 OR10G3 Nonsynonymous SNV S73G 0.675 0.695 0.745 257 792 267 0.659 219 270 100 80 83 0.345 12619 chr2 242622326 242622326 T C rs4347866 DTYMK Nonsynonymous SNV I82V 0.473 0.508 0.102 189 555 195 0.485 30 136 50 15 42 0.495 12620 chr2 242630048 242630048 G A rs7573214 ING5 Nonsynonymous SNV R8Q 0.668 0.674 0 259 784 259 0.664 0 249 87 0 80 2.772 12621 chr14 22133416 22133416 A G rs12717305 OR4E2 Synonymous SNV S40S 0.532 0.539 0.561 201 625 207 0.515 165 153 55 46 49 0.002 12622 chr2 242674803 242674803 G A rs77940364 D2HGDH Nonsynonymous SNV R55Q 0.36 0.396 0.35 143 423 152 0.367 103 60 30 18 21 Benign/Likely benign 14.47 12623 chr14 22133648 22133648 G A rs2874103 OR4E2 Nonsynonymous SNV V118M 0.828 0.831 0.806 314 972 319 0.805 237 403 131 92 127 0.229 12624 chr12 48526659 48526659 G A rs2228501 PFKM Synonymous SNV T82T 0.036 0.034 0.034 11 42 13 0.028 10 0 1 1 0 Benign 15.65 12625 chr14 22133997 22133997 A G rs970382 OR4E2 Nonsynonymous SNV Q234R 0.828 0.831 0.806 313 972 319 0.803 237 403 131 92 126 0.001 12626 chr2 242690675 242690675 G A rs1106639 D2HGDH Nonsynonymous SNV V204I 0.295 0.315 0.313 127 346 121 0.326 92 49 22 15 19 Benign/Likely benign 15.62 12627 chr12 52285086 52285086 G A rs3180417 ANKRD33 Nonsynonymous SNV V192I 0.204 0.185 0.201 84 239 71 0.215 59 26 9 6 7 12.22 12628 chr2 228883029 228883029 A C rs3811515 SPHKAP Nonsynonymous SNV H847Q 0.293 0.289 0.265 103 344 111 0.264 78 47 18 7 12 0.007 12629 chr12 31820718 31820718 C G rs11051523 ETFBKMT Nonsynonymous SNV L195V 0.007 0.013 0.003 2 8 5 0.005 1 0 0 0 0 27.3 12630 chr12 48543584 48543584 G C rs3936179 ASB8 Synonymous SNV V144V 0.037 0.034 0.034 11 43 13 0.028 10 0 1 1 0 5.18 12631 chr14 22134018 22134018 C T rs61732411 OR4E2 Nonsynonymous SNV S241L 0.249 0.232 0.272 93 292 89 0.238 80 30 9 10 13 23.4 12632 chr2 242716380 242716380 A T rs12469459 GAL3ST2 Nonsynonymous SNV M4L 0.364 0.315 0.361 170 427 121 0.436 106 82 15 22 38 0.001 12633 chr12 50727870 50727870 G A rs80201036 FAM186A Stop gain R2174X 0.014 0.026 0.003 9 16 10 0.023 1 0 0 0 0 35 12634 chr14 22887460 22887460 G - rs3216790 LOC105370401 0 0 0.493 0 0 0 0 145 0 0 37 0 12635 chr2 242742875 242742875 C T rs62620233 GAL3ST2 Nonsynonymous SNV A164V 0.118 0.12 0.102 39 139 46 0.1 30 11 4 0 3 7.63 12636 chr14 23025932 23025932 A T rs12888861 LINC02332 0 0 0.673 0 0 0 0 198 0 0 68 0 6.613 12637 chr14 23078810 23078810 A T rs72677597 ABHD4 Synonymous SNV R311R 0.083 0.065 0.092 21 97 25 0.054 27 3 2 3 2 0.579 12638 chr12 48596254 48596254 A C rs11830378 OR10AD1 Synonymous SNV P274P 0.05 0.049 0.048 20 59 19 0.051 14 1 1 1 2 0.021 12639 chr2 229890660 229890660 A G rs34351298 PID1 Synonymous SNV H65H 0.085 0.109 0.112 44 100 42 0.113 33 2 2 4 3 0.008 12640 chr14 23102784 23102784 A G rs1753429 OR6J1 Synonymous SNV F311F 0.179 0.208 0.167 82 210 80 0.21 49 20 12 1 5 0.049 12641 chr2 242757411 242757411 C T rs36111671 NEU4 Synonymous SNV G177G 0.196 0.195 0.184 73 230 75 0.187 54 25 8 2 7 12.42 12642 chr12 48596484 48596484 A T rs75413005 OR10AD1 Nonsynonymous SNV W198R 0.051 0.049 0.048 19 60 19 0.049 14 1 1 1 2 0.078 12643 chr14 23102882 23102882 C A rs1681596 OR6J1 Nonsynonymous SNV V279L 0.179 0.208 0.167 82 210 80 0.21 49 20 12 1 5 23.5 12644 chr14 23102896 23102896 A G rs1681597 OR6J1 Nonsynonymous SNV L274S 0.179 0.208 0.167 82 210 80 0.21 49 20 12 1 5 0.026 12645 chr2 242757597 242757597 G A rs78073278 NEU4 Synonymous SNV A239A 0.035 0.034 0.027 13 41 13 0.033 8 1 1 0 0 5.415 12646 chr12 48596546 48596546 C T rs75531856 OR10AD1 Nonsynonymous SNV S177N 0.051 0.049 0.048 19 60 19 0.049 14 1 1 1 2 11.82 12647 chr12 50745457 50745457 C A rs150583039 FAM186A Nonsynonymous SNV A1720S 0.014 0.023 0.003 9 16 9 0.023 1 0 0 0 0 7.852 12648 chr14 23102969 23102969 G A rs1753430 OR6J1 Nonsynonymous SNV P250S 0.48 0.531 0.473 187 563 204 0.479 139 136 52 34 46 0.096 12649 chr2 231036866 231036866 G A rs13018234 SP110 Synonymous SNV C577C 0.158 0.133 0.112 66 185 51 0.169 33 12 3 3 2 Benign 6.829 12650 chr2 242758203 242758203 T C rs2293763 NEU4 Synonymous SNV A441A 0.372 0.354 0.384 143 437 136 0.367 113 86 26 20 25 0.016 12651 chr12 48596579 48596579 C T rs17224674 OR10AD1 Nonsynonymous SNV R166Q 0.036 0.034 0.034 10 42 13 0.026 10 0 1 1 0 2.779 12652 chr14 23103040 23103040 C T rs3829405 OR6J1 Nonsynonymous SNV R226H 0.161 0.19 0.156 76 189 73 0.195 46 15 11 1 4 14.82 12653 chr2 242758326 242758326 G A rs2293761 NEU4 Synonymous SNV K482K 0.369 0.352 0.381 143 433 135 0.367 112 85 26 20 25 6.171 12654 chr14 23103223 23103223 A G rs117737960 OR6J1 Nonsynonymous SNV L165P 0.026 0.031 0.02 14 30 12 0.036 6 0 1 0 0 25.7 12655 chr2 242793273 242793273 A G rs2227981 PDCD1 Synonymous SNV A268A 0.591 0.563 0.571 226 694 216 0.579 168 207 57 46 62 0.035 12656 chr12 48596641 48596641 A G rs75539159 OR10AD1 Synonymous SNV L145L 0.036 0.034 0.034 11 42 13 0.028 10 0 1 1 0 0.002 12657 chr2 242814009 242814009 G A rs7420371 RTP5 Nonsynonymous SNV G101E 0.386 0.359 0.381 150 453 138 0.385 112 85 20 20 25 12.39 12658 chr14 23103282 23103282 T C rs3751481 OR6J1 Synonymous SNV V145V 0.179 0.211 0.167 82 210 81 0.21 49 20 12 1 5 0.08 12659 chr12 48596890 48596890 G A rs17823193 OR10AD1 Synonymous SNV F62F 0.051 0.049 0.048 20 60 19 0.051 14 1 1 1 2 7.923 12660 chr14 23103347 23103347 T C rs3751482 OR6J1 Nonsynonymous SNV T124A 0.18 0.211 0.167 82 211 81 0.21 49 20 12 1 5 0.01 12661 chr12 48597064 48597064 A G rs17224828 OR10AD1 Synonymous SNV N4N 0.05 0.049 0.048 20 59 19 0.051 14 1 1 1 2 0.032 12662 chr2 231072709 231072709 C T rs1365776 SP110 Nonsynonymous SNV G299R 0.661 0.646 0.677 274 776 248 0.703 199 271 82 72 96 Benign 18.52 12663 chr12 52827740 52827740 G C rs2232386 KRT75 Nonsynonymous SNV P117A 0.065 0.063 0.065 29 76 24 0.074 19 3 1 1 2 0.839 12664 chr3 391100 391100 A G rs13060847 CHL1 Nonsynonymous SNV T303A 0.998 0.997 0.986 389 1172 383 0.997 290 585 191 144 194 9.052 12665 chr14 23103354 23103354 A G rs3751483 OR6J1 Synonymous SNV R121R 0.18 0.211 0.167 82 211 81 0.21 49 20 12 1 5 1.239 12666 chr14 23103355 23103355 C T rs3751484 OR6J1 Nonsynonymous SNV R121H 0.162 0.193 0.156 76 190 74 0.195 46 15 11 1 4 24.5 12667 chr2 231077112 231077112 G A rs28930679 SP110 Nonsynonymous SNV A206V 0.29 0.253 0.327 111 341 97 0.285 96 47 15 18 19 Benign 5.325 12668 chr3 439963 439963 A G rs6442827 CHL1 Nonsynonymous SNV I1034V 1 1 0.986 389 1174 384 0.997 290 587 192 143 194 0.552 12669 chr14 23236524 23236524 C T rs8572 OXA1L Nonsynonymous SNV A44V 0.867 0.859 0.827 343 1018 330 0.879 243 437 145 102 150 9.174 12670 chr3 440028 440028 T C rs6771714 CHL1 Synonymous SNV N1055N 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 3.039 12671 chr12 54109733 54109733 A G rs3741658 CALCOCO1 Synonymous SNV S283S 0.273 0.258 0.276 113 321 99 0.29 81 34 6 12 16 2.576 12672 chr14 23242828 23242828 T C rs1061040 SLC7A7 Synonymous SNV K509K 0.928 0.94 0.918 351 1089 361 0.9 270 506 169 123 159 Benign 8.106 12673 chr3 1418753 1418753 G A rs17038365 CNTN6 Synonymous SNV T616T 0.077 0.099 0.078 28 90 38 0.072 23 4 2 0 0 14.27 12674 chr14 23282110 23282110 A G rs8018462 SLC7A7 Synonymous SNV I166I 0.515 0.497 0.571 213 605 191 0.546 168 147 44 47 58 Benign 13.84 12675 chr14 23282449 23282449 C T rs1805059 SLC7A7 Synonymous SNV S53S 0.605 0.617 0.633 251 710 237 0.644 186 207 68 56 81 Benign 18.26 12676 chr3 1424718 1424718 G A rs2291101 CNTN6 Synonymous SNV V649V 0.417 0.406 0.442 168 489 156 0.431 130 105 31 27 32 Benign 9.998 12677 chr12 52913668 52913668 C T rs11170164 KRT5 Nonsynonymous SNV G138E 0.094 0.078 0.041 22 110 30 0.056 12 10 3 1 0 Benign 27.4 12678 chr14 23299135 23299135 G T rs1135641 MRPL52 Nonsynonymous SNV G5V 0.474 0.487 0.432 168 557 187 0.431 127 132 44 33 42 7.075 12679 chr12 547683 547683 T C rs735295 CCDC77 Nonsynonymous SNV M303T 0.32 0.32 0.306 139 376 123 0.356 90 67 13 19 22 0.002 12680 chr3 3081750 3081750 A T rs6802588 CNTN4 Synonymous SNV R402R 0.335 0.315 0.344 132 393 121 0.338 101 66 21 20 24 11.13 12681 chr3 3081825 3081825 T C rs339285 CNTN4 Synonymous SNV D427D 0.897 0.893 0.898 342 1053 343 0.877 264 473 153 118 155 9.425 12682 chr14 23299286 23299286 T C rs4982685 MRPL52 Nonsynonymous SNV V18A 0.822 0.828 0.823 314 965 318 0.805 242 399 131 100 125 0.002 12683 chr2 231333763 231333763 A G rs12724 SP100 Nonsynonymous SNV M405V 0.288 0.318 0.35 117 338 122 0.3 103 56 20 15 16 0.001 12684 chr12 52966390 52966390 A T rs11170176 KRT74 Nonsynonymous SNV L178Q 0.158 0.133 0.153 70 186 51 0.179 45 19 1 2 9 19.92 12685 chr3 3082025 3082025 G T rs4685596 CNTN4-AS1 0.296 0.354 0.33 133 348 136 0.341 97 56 26 15 29 1.829 12686 chr14 23306048 23306048 C T rs1042703 MMP14 Nonsynonymous SNV P8S 0.826 0.831 0.813 314 970 319 0.805 239 403 131 98 125 13.05 12687 chr3 3084653 3084653 C T rs6800354 CNTN4-AS1 0.28 0.331 0.299 115 329 127 0.295 88 49 19 12 17 11.91 12688 chr3 3170792 3170792 C T rs334773 TRNT1 Nonsynonymous SNV P23L 0.997 0.992 0.99 389 1170 381 0.997 291 583 189 144 194 Benign 12.94 12689 chr12 52966428 52966428 G C rs11170177 KRT74 Nonsynonymous SNV N165K 0.055 0.052 0.041 27 64 20 0.069 12 2 0 0 0 27.8 12690 chr14 23312594 23312594 G A rs1042704 MMP14 Nonsynonymous SNV D273N 0.151 0.18 0.163 55 177 69 0.141 48 11 5 2 2 21.8 12691 chr2 231738168 231738168 G A rs2289235 ITM2C Nonsynonymous SNV G53S 0.525 0.469 0.541 207 616 180 0.531 159 157 37 42 52 0.005 12692 chr3 3189279 3189279 A G rs1705805 TRNT1 Synonymous SNV A296A 0.854 0.854 0.789 330 1003 328 0.846 232 435 138 95 144 Benign 8.872 12693 chr14 23371255 23371255 - GGC rs397812315 RBM23 A359_Q360insA 0.604 0.651 0.663 210 709 250 0.538 195 214 77 64 50 12694 chr14 23371265 23371265 - GCA rs376457710 RBM23 A359_Q360insA 0.023 0.029 0.031 25 27 11 0.064 9 0 0 0 1 12695 chr3 3886580 3886580 A G rs4685689 LRRN1 Synonymous SNV A85A 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 3.312 12696 chr2 231738263 231738263 C T rs2289234 ITM2C Synonymous SNV F84F 0.532 0.471 0.548 207 624 181 0.531 161 161 37 42 53 16.24 12697 chr14 23374435 23374435 G A rs2295680 RBM23 Synonymous SNV I164I 0.548 0.573 0.66 218 643 220 0.559 194 173 62 67 55 14.89 12698 chr3 3887093 3887093 A G rs9844909 LRRN1 Synonymous SNV Q256Q 0.285 0.32 0.282 88 335 123 0.226 83 51 20 9 7 0.931 12699 chr14 23374862 23374862 C T rs2295682 RBM23 Synonymous SNV R120R 0.546 0.573 0.656 219 641 220 0.562 193 173 62 67 56 8.98 12700 chr2 231738269 231738269 G A rs2289233 ITM2C Synonymous SNV A86A 0.532 0.471 0.548 208 624 181 0.533 161 161 37 42 53 13.11 12701 chr12 52981442 52981442 C A rs11170183 KRT72 Nonsynonymous SNV R386L 0.243 0.286 0.241 99 285 110 0.254 71 41 18 11 10 35 12702 chr3 3887876 3887876 T C rs2120609 LRRN1 Synonymous SNV N517N 0.654 0.656 0.636 248 768 252 0.636 187 248 80 59 79 0.174 12703 chr14 23426182 23426182 C A rs2273626 MIR4707 0 0 0.541 0 0 0 0 159 0 0 42 0 12.08 12704 chr2 231774844 231774844 G A rs2396777 GPR55 Synonymous SNV N278N 0.21 0.19 0.224 89 247 73 0.228 66 32 5 6 11 10.24 12705 chr3 4358476 4358476 C T rs115195721 SETMAR Nonsynonymous SNV T246I 0.016 0.018 0.02 3 19 7 0.008 6 1 0 0 0 17.84 12706 chr14 23504021 23504021 G A rs11543947 PSMB5 Nonsynonymous SNV R24C 0.09 0.076 0.088 54 106 29 0.138 26 12 0 2 3 34 12707 chr2 231775094 231775094 C A rs3749073 GPR55 Nonsynonymous SNV G195V 0.127 0.12 0.095 54 149 46 0.138 28 18 2 2 4 4.72 12708 chr12 52984620 52984620 C T rs12818575 KRT72 Synonymous SNV Q363Q 0.242 0.286 0.241 98 284 110 0.251 71 41 18 11 10 15.98 12709 chr14 23549379 23549379 C G rs941719 ACIN1 Nonsynonymous SNV A407P 0.999 1 0.986 388 1173 384 0.995 290 586 192 143 193 13.53 12710 chr3 4403837 4403837 A G rs2633852 SUMF1 Synonymous SNV T347T 0.591 0.638 0.619 234 694 245 0.6 182 205 80 60 68 Benign 0.12 12711 chr3 4508742 4508742 C T rs2819590 SUMF1 Nonsynonymous SNV S63N 0.233 0.198 0.252 96 274 76 0.246 74 32 11 11 12 Benign 21.1 12712 chr14 23571671 23571671 A T rs4444236 LMLN2 Nonsynonymous SNV L339Q 0 0 0.997 0 0 0 0 293 0 0 146 0 19.92 12713 chr14 23598952 23598952 A G rs7157021 SLC7A8 Synonymous SNV Y166Y 0.639 0.641 0.633 232 750 246 0.595 186 239 76 56 68 0.088 12714 chr12 41312553 41312553 C T rs7297132 CNTN1 Synonymous SNV A58A 0.029 0.018 0.017 11 34 7 0.028 5 1 0 0 0 Benign/Likely benign 16.85 12715 chr3 4712413 4712413 G A rs2306875 ITPR1 Synonymous SNV K654K 0.652 0.714 0.588 251 766 274 0.644 173 248 97 50 74 Benign 17.64 12716 chr14 23739833 23739833 T C rs45453094 RNF212B Nonsynonymous SNV L266P 0.008 0.01 0.017 1 9 4 0.003 5 0 0 0 0 5.443 12717 chr3 4817057 4817057 T C rs6442905 ITPR1 Synonymous SNV N1974N 0.947 0.958 0.932 376 1112 368 0.964 274 528 176 127 181 0.016 12718 chr12 53004654 53004654 C G rs595624 KRT73-AS1 0.275 0.32 0.265 107 323 123 0.274 78 50 24 13 12 10.95 12719 chr12 41966306 41966306 G A rs12298745 PDZRN4 Synonymous SNV E317E 0.163 0.164 0.167 66 191 63 0.169 49 13 5 4 2 0.815 12720 chr3 4856180 4856180 T C rs711631 ITPR1 Synonymous SNV T2482T 0.817 0.729 0.789 307 959 280 0.787 232 393 103 94 122 Benign 7.243 12721 chr14 23745533 23745533 C T rs10131813 HOMEZ Nonsynonymous SNV A302T 0.434 0.359 0.442 173 509 138 0.444 130 101 27 33 42 0.003 12722 chr12 520947 520947 A C rs4980895 CCDC77 Nonsynonymous SNV S25R 0.102 0.128 0.105 54 120 49 0.138 31 4 4 1 2 13.32 12723 chr3 5241309 5241309 C A rs410509 EDEM1 Synonymous SNV A205A 0.98 0.974 0.952 379 1150 374 0.972 280 563 182 133 184 22.5 12724 chr14 23777374 23777374 A G rs910332 BCL2L2, BCL2L2-PABPN1 Nonsynonymous SNV Q133R 0.998 0.995 0.993 387 1172 382 0.992 292 585 190 145 193 0.043 12725 chr3 7620789 7620789 T C rs1485175 GRM7 Synonymous SNV Y732Y 0.57 0.573 0.571 202 669 220 0.518 168 179 70 46 52 0.001 12726 chr12 55820202 55820202 C T rs114284996 OR6C76 Synonymous SNV T55T 0.015 0.021 0.003 1 18 8 0.003 1 0 0 0 0 9.984 12727 chr3 8809222 8809222 C T rs4686302 OXTR Nonsynonymous SNV A218T 0.127 0.13 0.105 39 149 50 0.1 31 10 1 1 0 17.53 12728 chr12 4920767 4920767 T C rs34642709 KCNA6 Synonymous SNV Y520Y 0.027 0.036 0.027 12 32 14 0.031 8 0 1 1 0 0.001 12729 chr14 23826819 23826819 C T rs2231810 EFS Synonymous SNV Q341Q 0.14 0.117 0.136 51 164 45 0.131 40 6 1 1 4 3.135 12730 chr12 55820959 55820959 A - rs397719965 OR6C76 K311Nfs*2 0.152 0.151 0.153 62 179 58 0.159 45 24 10 3 6 12731 chr14 23826822 23826822 C T rs2231809 EFS Synonymous SNV L340L 0.284 0.294 0.34 121 333 113 0.31 100 40 14 12 21 7.671 12732 chr12 49218963 49218963 A G rs1128345 CACNB3 Synonymous SNV P129P 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 9.386 12733 chr3 8809703 8809703 G A rs2228485 OXTR Synonymous SNV N57N 0.809 0.823 0.823 319 950 316 0.818 242 386 128 99 131 8.597 12734 chr14 23828893 23828893 G A rs2231806 EFS Nonsynonymous SNV S172F 0.109 0.102 0.105 45 128 39 0.115 31 4 1 1 5 23.4 12735 chr2 232321442 232321442 G A rs61754797 NCL Synonymous SNV D535D 0.003 0.026 0 3 4 10 0.008 0 0 0 0 0 Benign 11.73 12736 chr3 8955389 8955389 C T rs373572 RAD18 Nonsynonymous SNV R302Q 0.747 0.724 0.741 299 877 278 0.767 218 330 99 87 114 23.4 12737 chr14 23829164 23829164 G A rs2231805 EFS Nonsynonymous SNV R82W 0.14 0.117 0.133 52 164 45 0.133 39 6 1 1 5 13.45 12738 chr3 9406836 9406836 T C rs1054975 THUMPD3 Synonymous SNV S28S 0.665 0.667 0.616 252 781 256 0.646 181 259 85 58 78 5.771 12739 chr14 23830042 23830042 T C rs2231798 EFS Nonsynonymous SNV T7A 0.284 0.289 0.33 119 333 111 0.305 97 41 13 12 21 10.58 12740 chr2 233321641 233321641 C T rs61732032 ALPI Synonymous SNV S111S 0.111 0.117 0.092 31 130 45 0.079 27 7 7 1 1 11.8 12741 chr3 9422210 9422210 T C rs2596916 THUMPD3 Synonymous SNV C344C 0.661 0.667 0.619 250 776 256 0.641 182 262 88 58 78 0.087 12742 chr2 233322958 233322958 T C rs41265121 ALPI Synonymous SNV G341G 0.114 0.12 0.102 31 134 46 0.079 30 7 7 3 1 0.12 12743 chr14 23848311 23848311 C T rs723840 CMTM5 Synonymous SNV D66D 0.469 0.456 0.476 190 551 175 0.487 140 132 40 34 47 18.06 12744 chr14 23854155 23854155 G A rs8004990 MYH6 Synonymous SNV A1753A 0.094 0.083 0.075 33 110 32 0.085 22 3 1 0 1 Benign 4.638 12745 chr3 9425911 9425911 G A rs1129170 THUMPD3 Synonymous SNV K417K 0.663 0.661 0.612 249 778 254 0.638 180 256 84 58 77 13.17 12746 chr14 23855320 23855320 G A rs382872 MYH6 Synonymous SNV D1660D 0.094 0.083 0.075 33 110 32 0.085 22 3 1 0 1 Benign 2.693 12747 chr14 23855569 23855569 A G rs178640 MYH6 Synonymous SNV A1638A 0.476 0.466 0.452 194 559 179 0.497 133 136 39 32 49 Benign 3.788 12748 chr3 9425944 9425944 G C rs1046788 THUMPD3 Synonymous SNV R428R 0.168 0.146 0.173 57 197 56 0.146 51 16 3 4 8 7.359 12749 chr2 233385396 233385396 G A rs1550094 PRSS56 Nonsynonymous SNV A30T 0.641 0.628 0.67 249 752 241 0.638 197 257 81 68 81 Benign 12.9 12750 chr14 23858232 23858232 C T rs451794 MYH6 Synonymous SNV S1337S 0.105 0.096 0.088 38 123 37 0.097 26 5 2 0 1 Benign 17.84 12751 chr14 23861811 23861811 A G rs365990 MYH6 Nonsynonymous SNV V1101A 0.413 0.406 0.378 166 485 156 0.426 111 107 30 20 32 Benign 9.908 12752 chr3 9426224 9426224 G A rs1129174 THUMPD3 Nonsynonymous SNV R459Q 0.166 0.146 0.173 57 195 56 0.146 51 16 3 4 8 23.2 12753 chr12 42499811 42499811 G A rs61756690 GXYLT1 Nonsynonymous SNV P194S 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 28 12754 chr2 233390937 233390937 A G rs2245601 CHRND Synonymous SNV P4P 0.461 0.44 0.354 181 541 169 0.464 104 123 39 27 39 Benign 2.704 12755 chr14 23874523 23874523 C T rs2277474 MYH6 Synonymous SNV E137E 0.277 0.255 0.259 117 325 98 0.3 76 48 11 5 18 Benign 11.86 12756 chr3 9426330 9426330 A G rs61751573 THUMPD3 Synonymous SNV E494E 0.038 0.057 0.037 24 45 22 0.062 11 1 0 0 0 0.945 12757 chr2 233391306 233391306 G A rs55921262 CHRND Synonymous SNV K40K 0.033 0.031 0.034 17 39 12 0.044 10 1 0 0 0 Benign 6.44 12758 chr14 23886155 23886155 A G rs2754155 MYH7 Synonymous SNV T1522T 0.009 0.003 0.017 4 10 1 0.01 5 0 0 0 0 Benign 0.036 12759 chr3 9852059 9852059 - GAT rs34761997 TTLL3 D124_P125insD 0.88 0.911 0.65 340 1033 350 0.872 191 465 162 87 153 12760 chr12 56115585 56115585 C T rs3138142 RDH5 Synonymous SNV I141I 0.281 0.302 0.207 115 330 116 0.295 61 50 14 3 11 Benign 10.89 12761 chr12 49435239 49435239 C T rs772506992 KMT2D Nonsynonymous SNV R2105H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 12762 chr14 23892888 23892888 A G rs7157716 MYH7 Synonymous SNV I989I 0.372 0.378 0.34 158 437 145 0.405 100 90 25 13 33 Benign 4.016 12763 chr3 9867625 9867625 C T rs3732527 ARPC4-TTLL3, TTLL3 Synonymous SNV R432R 0.697 0.727 0.694 253 818 279 0.649 204 286 101 70 82 14.28 12764 chr14 23899027 23899027 C T rs735711 MYH7 Synonymous SNV K365K 0.158 0.146 0.099 64 186 56 0.164 29 17 6 0 6 Benign 14.81 12765 chr12 53238347 53238347 G A rs61764062 KRT78 Nonsynonymous SNV T196I 0.041 0.031 0.054 19 48 12 0.049 16 0 0 2 0 17.84 12766 chr12 49933229 49933229 G T rs148933979 KCNH3 Synonymous SNV P10P 0.027 0.008 0.031 14 32 3 0.036 9 0 0 0 1 12.54 12767 chr14 23944505 23944505 G A rs2236260 NGDN Synonymous SNV V90V 0.746 0.74 0.707 296 876 284 0.759 208 333 100 74 111 12.52 12768 chr3 9870857 9870857 G A rs2290303 ARPC4-TTLL3, TTLL3 Synonymous SNV Q587Q 0.566 0.568 0.612 208 664 218 0.533 180 181 61 53 56 9.026 12769 chr14 23944514 23944514 C A rs2236261 NGDN Synonymous SNV R93R 0.818 0.805 0.752 316 960 309 0.81 221 391 121 81 125 16.94 12770 chr12 42629601 42629601 A T rs73114498 YAF2 Synonymous SNV A117A 0.039 0.044 0.048 8 46 17 0.021 14 1 1 0 1 18.81 12771 chr12 53240584 53240584 A G rs2682342 KRT78 Synonymous SNV R98R 0.108 0.099 0.133 40 127 38 0.103 39 9 3 6 2 0.047 12772 chr3 9871030 9871030 T G rs2290305 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV M645R 0.716 0.745 0.721 261 841 286 0.669 212 304 105 76 87 10.05 12773 chr12 53170960 53170960 G C rs149818008 KRT76 Nonsynonymous SNV A39G 0.01 0.01 0.017 2 12 4 0.005 5 0 0 0 0 0.152 12774 chr14 23992742 23992742 T G rs223124 ZFHX2 Nonsynonymous SNV S2137R 0.218 0.203 0.265 73 256 78 0.187 78 30 5 6 10 9.296 12775 chr12 53242415 53242415 G A rs17119683 KRT78 Synonymous SNV I100I 0.039 0.031 0.051 18 46 12 0.046 15 0 0 2 0 13.78 12776 chr3 9874914 9874914 C T rs115917139 TTLL3 Stop gain R704X 0.063 0.063 0.058 23 74 24 0.059 17 0 0 2 1 37 12777 chr12 56351346 56351346 G A rs1052165 PMEL Synonymous SNV P161P 0.291 0.297 0.286 124 342 114 0.318 84 41 17 10 20 11.26 12778 chr14 23994517 23994517 A G rs4982766 ZFHX2 Nonsynonymous SNV V1545A 0.207 0.19 0.262 69 243 73 0.177 77 28 4 7 8 1.52 12779 chr3 9918861 9918861 C A rs456168 CIDEC Synonymous SNV L32L 0.242 0.24 0.184 77 284 92 0.197 54 37 7 8 5 Likely benign 15.27 12780 chr12 53242579 53242579 C T rs2253798 KRT78 Nonsynonymous SNV G46R 0.097 0.089 0.112 38 114 34 0.097 33 9 3 4 2 24.2 12781 chr14 24408679 24408679 G A rs77147457 DHRS4-AS1 0 0 0.082 0 0 0 0 24 0 0 1 0 2.406 12782 chr14 24410092 24410092 G A rs8003627 DHRS4-AS1 0 0 0.088 0 0 0 0 26 0 0 2 0 2.805 12783 chr3 9934605 9934605 T C rs279553 JAGN1 Synonymous SNV T32T 0.665 0.654 0.711 254 781 251 0.651 209 252 79 73 79 0.09 12784 chr14 24410262 24410262 C G rs58941536 DHRS4-AS1 0 0 0.092 0 0 0 0 27 0 0 2 0 5.952 12785 chr14 24526206 24526206 T C rs45484702 CARMIL3 Synonymous SNV P345P 0.199 0.229 0.163 75 234 88 0.192 48 17 9 4 4 0.884 12786 chr12 53292643 53292643 C T rs57422427 KRT8 Nonsynonymous SNV R341H 0.024 0.026 0.034 13 28 10 0.033 10 0 0 1 0 not provided 23.1 12787 chr3 9952706 9952706 A G rs279572 IL17RE Synonymous SNV T204T 0.536 0.471 0.568 204 629 181 0.523 167 164 43 42 53 0.002 12788 chr14 24529890 24529890 A G rs1951635 CARMIL3 Synonymous SNV L705L 0.939 0.953 0.929 368 1102 366 0.944 273 517 174 126 173 5.717 12789 chr3 9956279 9956279 G A rs455863 IL17RE Nonsynonymous SNV G473R 0.528 0.479 0.561 200 620 184 0.513 165 155 44 42 51 7.939 12790 chr14 24534270 24534270 C T rs117833529 CARMIL3 Nonsynonymous SNV R1062W 0.044 0.057 0.058 21 52 22 0.054 17 3 2 1 0 31 12791 chr2 234183368 234183368 A G rs2241880 ATG16L1 Nonsynonymous SNV T137A 0.564 0.552 0.534 195 662 212 0.5 157 186 65 39 50 Benign 0.005 12792 chr12 56500502 56500502 - A rs34728522 PA2G4 0.102 0.117 0.061 28 120 45 0.072 18 7 3 0 0 12793 chr14 24543808 24543808 G C rs2070343 CPNE6 Synonymous SNV L189L 0.221 0.19 0.187 79 260 73 0.203 55 21 8 9 6 6.861 12794 chr3 9957455 9957455 C T rs1056286 IL17RE Synonymous SNV L540L 0.483 0.424 0.541 181 567 163 0.464 159 125 35 38 40 11.31 12795 chr14 24545366 24545366 T C rs2070342 CPNE6 Synonymous SNV I311I 0.367 0.378 0.323 148 431 145 0.379 95 73 29 14 23 0.084 12796 chr12 53343005 53343005 G A rs80354424 KRT18 Synonymous SNV L16L 0.129 0.12 0.071 40 152 46 0.103 21 0 0 0 0 11.76 12797 chr3 9960070 9960070 C T rs708567 IL17RC Nonsynonymous SNV S111L 0.537 0.474 0.537 200 630 182 0.513 158 163 43 42 51 2.201 12798 chr2 234255547 234255547 G A rs1046974 SAG Nonsynonymous SNV V403I 0.389 0.414 0.34 147 457 159 0.377 100 89 38 18 27 Benign 0.482 12799 chr14 24545375 24545375 C T rs2070341 CPNE6 Synonymous SNV T314T 0.595 0.596 0.639 221 698 229 0.567 188 203 70 60 61 10.23 12800 chr12 53343007 53343007 G A rs79476176 KRT18 Nonsynonymous SNV G17D 0.13 0.122 0.075 41 153 47 0.105 22 0 0 0 0 26.3 12801 chr14 24567498 24567498 A C rs3021119 PCK2 Nonsynonymous SNV Q121P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 2.438 12802 chr3 9970031 9970031 A G rs279549 IL17RC Nonsynonymous SNV Q267R 0.985 0.99 0.99 385 1156 380 0.987 291 569 188 144 190 0.003 12803 chr12 53343033 53343033 G A rs78514003 KRT18 Nonsynonymous SNV A26T 0.226 0.214 0.095 73 265 82 0.187 28 0 0 0 0 9.637 12804 chr12 44191625 44191625 G A rs12829856 TWF1 Synonymous SNV D165D 0.102 0.141 0.088 53 120 54 0.136 26 3 3 0 3 9.382 12805 chr14 24614361 24614361 T G rs7146672 PSME2 Nonsynonymous SNV H89P 0.989 0.992 0.99 383 1161 381 0.982 291 574 189 144 188 10.18 12806 chr12 50344652 50344652 G A rs61733029 AQP2 Synonymous SNV V13V 0.018 0.01 0.034 6 21 4 0.015 10 0 0 0 0 Benign/Likely benign 11.62 12807 chr3 9970158 9970158 C T rs279548 IL17RC Synonymous SNV N309N 0.319 0.299 0.347 130 375 115 0.333 102 58 9 14 20 10.52 12808 chr12 53343036 53343036 C T rs77825282 KRT18 Nonsynonymous SNV R27W 0.235 0.227 0.095 76 276 87 0.195 28 0 0 0 0 16.64 12809 chr14 24646406 24646406 - GAA rs10690822 REC8 E229_A230insE 0.991 0.992 0.99 385 1164 381 0.987 291 577 189 144 190 12810 chr3 9975247 9975247 C G rs183956 IL17RC Synonymous SNV G658G 0.979 0.979 0.986 380 1149 376 0.974 290 563 184 143 185 11.65 12811 chr14 24647814 24647814 T C rs1885711 REC8 Synonymous SNV P332P 0.359 0.339 0.422 165 422 130 0.423 124 81 26 22 33 0.161 12812 chr12 53343040 53343040 C A rs74379840 KRT18 Nonsynonymous SNV P28Q 0.256 0.255 0.085 88 300 98 0.226 25 0 0 0 0 21.3 12813 chr3 9976159 9976159 A G rs279552 CRELD1 Nonsynonymous SNV M13V 0.979 0.979 0.986 380 1149 376 0.974 290 563 184 143 185 0.002 12814 chr12 53223865 53223865 T C rs17688672 KRT79 Nonsynonymous SNV H266R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.9 12815 chr14 24653523 24653523 G C rs11550452 IPO4 Nonsynonymous SNV P580A 0.232 0.227 0.272 106 272 87 0.272 80 33 10 9 9 26.5 12816 chr2 234429739 234429739 - TTC rs141501074 USP40 K740_W741insK 0.19 0.219 0.18 60 223 84 0.154 53 27 11 5 7 12817 chr2 234432017 234432017 A G rs838543 USP40 Nonsynonymous SNV V666A 0.198 0.227 0.19 61 233 87 0.156 56 27 11 5 7 21.6 12818 chr12 53343051 53343051 G T rs74953757 KRT18 Nonsynonymous SNV A32S 0.318 0.313 0.085 123 373 120 0.315 25 0 0 0 0 18.3 12819 chr14 24653954 24653954 G A rs7146310 IPO4 Nonsynonymous SNV A513V 0.216 0.19 0.255 100 254 73 0.256 75 29 4 9 6 24 12820 chr3 9991388 9991388 G C rs279601 PRRT3 Nonsynonymous SNV Q138E 0.956 0.945 0.966 375 1122 363 0.962 284 536 172 137 180 0.001 12821 chr12 53004387 53004387 G C rs189941791 KRT73-AS1 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 1.466 12822 chr12 53343059 53343059 C A rs78343594 KRT18 Nonsynonymous SNV S34R 0.349 0.346 0.085 136 410 133 0.349 25 0 0 0 0 23.2 12823 chr14 24654489 24654489 T C rs2025258 IPO4 Synonymous SNV V436V 0.24 0.219 0.289 110 282 84 0.282 85 36 12 12 10 8.139 12824 chr3 10219567 10219567 C A rs11465864 IRAK2 Nonsynonymous SNV S47Y 0.02 0.01 0.01 5 23 4 0.013 3 0 0 0 0 28.2 12825 chr12 53343069 53343069 G T rs77999286 KRT18 Nonsynonymous SNV G38C 0.373 0.378 0.092 152 438 145 0.39 27 0 0 0 0 24.6 12826 chr14 24662177 24662177 C T rs10583 TM9SF1 Nonsynonymous SNV R215H 0.109 0.094 0.116 36 128 36 0.092 34 6 2 0 0 17.98 12827 chr3 10276163 10276163 T A rs708035 IRAK2 Nonsynonymous SNV D431E 0.628 0.651 0.646 246 737 250 0.631 190 237 79 61 73 10.69 12828 chr12 53343071 53343071 C T rs75380684 KRT18 Synonymous SNV G38G 0.377 0.383 0.099 155 443 147 0.397 29 0 0 0 0 22.1 12829 chr14 24679877 24679877 C T rs2295322 CHMP4A Nonsynonymous SNV G153R 0.618 0.651 0.571 228 725 250 0.585 168 231 82 49 65 32 12830 chr3 10276185 10276185 C G rs11465927 IRAK2 Nonsynonymous SNV L439V 0.059 0.047 0.061 24 69 18 0.062 18 1 1 0 3 1.627 12831 chr12 53045623 53045623 - GCC rs56850150 KRT2 S101_F102insG 0.134 0.12 0.116 55 157 46 0.141 34 10 3 4 3 12832 chr14 24707479 24707479 G A rs34354104 GMPR2 Nonsynonymous SNV G260D 0.027 0.023 0.027 5 32 9 0.013 8 0 0 0 0 31 12833 chr12 53069014 53069014 T C rs14024 KRT1 Nonsynonymous SNV K633R 0.25 0.253 0.276 108 293 97 0.277 81 39 14 9 13 Benign 4.209 12834 chr14 24718542 24718542 T G TGM1 Nonsynonymous SNV M811L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 12835 chr3 10302172 10302172 G A rs394558 TATDN2 Nonsynonymous SNV V256I 0.451 0.464 0.483 172 529 178 0.441 142 132 38 37 36 0.008 12836 chr14 24728294 24728294 G T rs1126432 TGM1 Synonymous SNV G382G 0.171 0.128 0.156 50 201 49 0.128 46 16 2 5 3 Benign 10.03 12837 chr2 234707460 234707460 G C rs11563247 MROH2A Synonymous SNV R431R 0.265 0.305 0.259 97 311 117 0.249 76 37 20 11 12 8.833 12838 chr14 24760808 24760808 C T rs1131941 DHRS1 Synonymous SNV A226A 0.147 0.141 0.122 53 172 54 0.136 36 8 4 3 2 13.39 12839 chr3 10353550 10353550 T C rs35670 SEC13 Synonymous SNV G183G 0.23 0.268 0.262 109 270 103 0.279 77 28 11 7 15 2.772 12840 chr14 24769663 24769663 T G rs11158632 NOP9 Synonymous SNV A99A 0.147 0.143 0.119 53 173 55 0.136 35 8 4 3 2 10.07 12841 chr14 24771256 24771256 T C rs4247001 NOP9 Synonymous SNV H298H 0.971 0.969 0.966 372 1140 372 0.954 284 554 180 137 177 0.206 12842 chr3 10353626 10353626 C T rs35671 SEC13 Nonsynonymous SNV R158H 0.234 0.276 0.262 112 275 106 0.287 77 29 12 7 15 0.022 12843 chr14 24771285 24771285 G A rs4280164 NOP9 Nonsynonymous SNV S308N 0.147 0.143 0.119 53 173 55 0.136 35 8 4 3 2 21.5 12844 chr3 10413715 10413715 G A rs2289274 ATP2B2 Synonymous SNV N434N 0.293 0.32 0.31 119 344 123 0.305 91 65 16 16 15 8.042 12845 chr14 24773387 24773387 T C rs2144494 NOP9 Synonymous SNV L517L 0.147 0.143 0.119 53 173 55 0.136 35 8 4 3 2 0.038 12846 chr12 57111881 57111949 GGGGTGGGGTAGCTAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTTGTGGGTGCCCCTTTGT - NACA H1122_P1144del 0.162 0.19 0.048 99 190 73 0.254 14 81 34 6 44 12847 chr12 53088484 53088484 C T rs10783528 KRT77 Nonsynonymous SNV D336N 0.278 0.289 0.306 117 326 111 0.3 90 47 20 11 17 20.7 12848 chr14 24839083 24839083 G C rs2229309 NFATC4 Nonsynonymous SNV G160A 0.593 0.635 0.585 262 696 244 0.672 172 207 78 49 84 8.886 12849 chr3 10443827 10443827 G C rs13084776 ATP2B2 Synonymous SNV V201V 0.26 0.266 0.218 111 305 102 0.285 64 37 10 5 19 5.203 12850 chr12 53343148 53343148 C G KRT18 Nonsynonymous SNV A64G 0.171 0.159 0.061 70 201 61 0.179 18 0 0 0 0 8.437 12851 chr3 10885920 10885920 T C rs2304725 SLC6A11 Synonymous SNV S215S 0.438 0.401 0.401 148 514 154 0.379 118 125 34 27 29 0.633 12852 chr14 24839165 24839165 C T rs2228233 NFATC4 Synonymous SNV D187D 0.237 0.234 0.272 73 278 90 0.187 80 32 13 10 5 13.12 12853 chr3 10967739 10967739 T C rs2272395 SLC6A11 Synonymous SNV P390P 0.414 0.435 0.391 176 486 167 0.451 115 99 36 22 34 2.434 12854 chr2 234758500 234758500 G A rs529963 HJURP Synonymous SNV S82S 0.275 0.292 0.282 122 323 112 0.313 83 47 19 8 18 1.89 12855 chr12 48963021 48963021 T C rs2232565 LALBA Nonsynonymous SNV I46V 0.049 0.06 0.031 21 58 23 0.054 9 1 0 1 1 0.001 12856 chr12 53343152 53343152 C G rs79913669 KRT18 Synonymous SNV T65T 0.171 0.148 0.061 61 201 57 0.156 18 0 0 0 0 9.876 12857 chr14 24843620 24843620 T C rs2295298 NFATC4 Synonymous SNV T607T 0.628 0.667 0.616 265 737 256 0.679 181 232 86 56 87 7.884 12858 chr12 53343158 53343158 A G rs77364359 KRT18 Nonsynonymous SNV I67M 0.172 0.135 0.048 61 202 52 0.156 14 0 0 0 0 0.003 12859 chr2 234854550 234854550 G C rs11562975 TRPM8 Synonymous SNV L250L 0.051 0.055 0.048 32 60 21 0.082 14 2 0 2 2 6.923 12860 chr14 24845841 24845841 T C rs7149586 NFATC4 Nonsynonymous SNV S730P 0.705 0.706 0.694 292 828 271 0.749 204 294 97 71 108 14 12861 chr2 234915540 234915540 C G rs11563071 TRPM8 Synonymous SNV V1058V 0.073 0.07 0.061 23 86 27 0.059 18 4 0 0 0 11.3 12862 chr14 24878485 24878485 G A rs12897153 NYNRIN Synonymous SNV P495P 0.164 0.208 0.17 58 193 80 0.149 50 21 10 2 3 7.52 12863 chr12 57133140 57133140 T G rs1131514 PRIM1 Synonymous SNV I330I 0.583 0.594 0.616 263 684 228 0.674 181 200 74 62 91 14.1 12864 chr14 24883887 24883887 G A rs8017377 NYNRIN Nonsynonymous SNV A978T 0.497 0.513 0.5 186 584 197 0.477 147 162 47 38 39 0.019 12865 chr2 235950187 235950187 T C rs1469375 SH3BP4 Synonymous SNV D258D 0.514 0.51 0.531 217 604 196 0.556 156 167 48 44 58 0.002 12866 chr3 11643465 11643465 T C rs2276749 VGLL4 Nonsynonymous SNV I38M 0.949 0.958 0.942 369 1114 368 0.946 277 528 177 131 174 9.447 12867 chr12 57567762 57567762 C T rs1800194 LRP1 Synonymous SNV C1182C 0.309 0.297 0.306 99 363 114 0.254 90 57 14 12 11 12.77 12868 chr12 51208122 51208122 C G rs2230674 ATF1 Nonsynonymous SNV P191A 0.037 0.042 0.037 18 43 16 0.046 11 0 1 0 0 23.1 12869 chr2 235951819 235951819 A G rs3795962 SH3BP4 Synonymous SNV L802L 0.541 0.536 0.524 225 635 206 0.577 154 170 52 41 61 0.137 12870 chr14 24898558 24898558 C T rs2273632 KHNYN Synonymous SNV G17G 0.784 0.805 0.748 305 920 309 0.782 220 370 126 84 117 12.63 12871 chr12 53448114 53448114 G A rs141470860 TNS2 Synonymous SNV T147T 0.009 0.013 0 6 10 5 0.015 0 0 0 0 0 Benign 16.45 12872 chr14 24901249 24901249 A C rs3742520 KHNYN Nonsynonymous SNV K302T 0.488 0.521 0.486 190 573 200 0.487 143 147 56 35 41 0.609 12873 chr3 11880760 11880760 T C rs7641243 TAMM41 Nonsynonymous SNV N116S 0.135 0.122 0.146 64 159 47 0.164 43 12 4 3 5 0.002 12874 chr12 57589659 57589659 C T rs1800154 LRP1 Synonymous SNV C2858C 0.311 0.297 0.299 99 365 114 0.254 88 57 14 11 11 16.42 12875 chr12 53497402 53497402 A G rs9658625 SOAT2 Nonsynonymous SNV E14G 0.074 0.073 0.095 34 87 28 0.087 28 3 0 3 2 6.365 12876 chr14 24901276 24901276 G T rs7151995 KHNYN Nonsynonymous SNV W311L 0.973 0.977 0.963 373 1142 375 0.956 283 555 183 137 178 0.204 12877 chr3 11886365 11886365 T C rs392621 TAMM41 Synonymous SNV A4A 0.516 0.5 0.517 204 606 192 0.523 152 159 44 42 55 2.436 12878 chr3 11887991 11887991 C G rs408600 TAMM41 Synonymous SNV P40P 0.527 0.51 0.514 209 619 196 0.536 151 164 47 41 58 13.31 12879 chr2 237103548 237103548 G A rs10177825 ASB18 Synonymous SNV Y456Y 0.121 0.112 0.129 63 142 43 0.162 38 15 1 3 4 0.068 12880 chr12 57590797 57590797 C T rs1800156 LRP1 Synonymous SNV D2975D 0.311 0.299 0.299 99 365 115 0.254 88 57 14 11 11 19.52 12881 chr14 24901433 24901433 C T rs17795094 KHNYN Synonymous SNV H363H 0.111 0.099 0.122 39 130 38 0.1 36 8 2 3 1 4.864 12882 chr3 12393125 12393125 C G rs1801282 PPARG Nonsynonymous SNV P12A 0.093 0.083 0.068 27 109 32 0.069 20 6 1 0 1 Likely benign 20.6 12883 chr2 237103623 237103623 A G rs10166966 ASB18 Synonymous SNV A431A 0.108 0.102 0.119 56 127 39 0.144 35 10 1 3 3 2.323 12884 chr14 24909362 24909362 T C rs1043831 SDR39U1 Nonsynonymous SNV Q188R 0.865 0.859 0.905 329 1016 330 0.844 266 440 141 120 142 13.07 12885 chr2 237103697 237103697 G T rs10177957 ASB18 Nonsynonymous SNV H407N 0.108 0.102 0.119 56 127 39 0.144 35 10 1 3 3 27 12886 chr3 12475557 12475557 C T rs3856806 PPARG Synonymous SNV H449H 0.106 0.096 0.065 25 124 37 0.064 19 7 2 0 1 Likely benign 14.01 12887 chr12 53567530 53567530 C T rs547221277 CSAD Synonymous SNV P19P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.7 12888 chr14 24909475 24909475 C G rs3211056 SDR39U1 Nonsynonymous SNV L150F 0.865 0.859 0.905 329 1016 330 0.844 266 440 141 120 142 9.664 12889 chr3 12810755 12810755 G C rs7641959 TMEM40 Nonsynonymous SNV P12R 0.582 0.62 0.259 231 683 238 0.592 76 213 77 32 64 5.873 12890 chr2 237123104 237123104 G C rs7588748 ASB18 Synonymous SNV L334L 0.126 0.115 0.075 60 148 44 0.154 22 15 3 2 4 1.14 12891 chr14 24910973 24910973 T G rs11625819 SDR39U1 Nonsynonymous SNV I79L 0.863 0.854 0.905 329 1013 328 0.844 266 440 141 120 142 12.38 12892 chr12 57619362 57619362 G A rs10783816 NXPH4 Synonymous SNV P253P 0.353 0.357 0.371 120 415 137 0.308 109 67 26 20 20 13.3 12893 chr3 12810783 12810783 C T rs61606491 TMEM40 Nonsynonymous SNV E3K 0.382 0.398 0.122 160 449 153 0.41 36 101 36 15 33 19.74 12894 chr12 53606954 53606954 G A rs769206913 RARG Synonymous SNV Y342Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.89 12895 chr14 24910974 24910974 T A rs11625820 SDR39U1 Synonymous SNV V78V 0.863 0.854 0.905 329 1013 328 0.844 266 440 141 120 142 14.04 12896 chr12 53216950 53216950 T C rs73102423 KRT79 Nonsynonymous SNV K406R 0.052 0.057 0.061 21 61 22 0.054 18 4 0 0 0 22.6 12897 chr2 238243292 238243292 G A rs1131296 COL6A3 Nonsynonymous SNV T2462I 0.426 0.44 0.429 164 500 169 0.421 126 107 38 28 33 Benign 15.24 12898 chr3 12848822 12848822 T C rs11718898 CAND2 Nonsynonymous SNV V77A 0.669 0.698 0.67 261 785 268 0.669 197 264 94 70 83 11.26 12899 chr12 53671005 53671005 G A rs17125266 ESPL1 Nonsynonymous SNV M693I 0.015 0.021 0.02 4 18 8 0.01 6 1 0 0 0 20.6 12900 chr14 24912160 24912160 C A rs77048087 LOC101927045 0.058 0.042 0.027 27 68 16 0.069 8 4 0 0 0 10.23 12901 chr14 24912169 24912169 A C rs73595020 LOC101927045 0.057 0.039 0.031 27 67 15 0.069 9 4 0 0 0 2.234 12902 chr2 238243464 238243464 C G rs2270669 COL6A3 Nonsynonymous SNV A2405P 0.838 0.844 0.85 324 984 324 0.831 250 409 137 106 133 Benign 21.5 12903 chr14 24970942 24970942 A G rs4600392 LOC101927045 0 0 0.99 0 0 0 0 291 0 0 144 0 0.051 12904 chr14 24971008 24971008 C T rs4519248 LOC101927045 0 0 0.262 0 0 0 0 77 0 0 5 0 6.551 12905 chr3 12856856 12856856 A G rs2305398 CAND2 Nonsynonymous SNV Q315R 0.58 0.62 0.616 230 681 238 0.59 181 198 76 58 63 0.427 12906 chr14 24975435 24975435 G T rs5249 CMA1 Synonymous SNV S22S 0.998 0.997 0.99 388 1172 383 0.995 291 585 191 144 193 0.525 12907 chr14 25102160 25102160 C T rs8192917 GZMB Nonsynonymous SNV R43Q 0.69 0.721 0.69 287 810 277 0.736 203 286 99 71 107 9.856 12908 chr2 238244963 238244963 A G rs6728818 COL6A3 Nonsynonymous SNV M2320T 0.724 0.724 0.718 279 850 278 0.715 211 298 103 77 102 Benign 3.838 12909 chr12 53679752 53679752 C A rs139523603 ESPL1 Nonsynonymous SNV H1078N 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.77 12910 chr12 53682457 53682457 G A rs56358776 ESPL1 Nonsynonymous SNV R1561Q 0.328 0.331 0.327 141 385 127 0.362 96 59 18 17 26 0.01 12911 chr3 12857493 12857493 C T rs2305397 CAND2 Nonsynonymous SNV P383L 0.5 0.534 0.497 206 587 205 0.528 146 146 57 43 47 23.6 12912 chr14 29261307 29261307 - C rs56363493 LINC01551 0 0 0.279 0 0 0 0 82 0 0 11 0 12913 chr2 238249630 238249630 C T rs4433949 COL6A3 Synonymous SNV A2036A 0.46 0.464 0.452 180 540 178 0.462 133 122 42 33 39 Benign 18 12914 chr12 53233089 53233089 G A rs59439901 KRT78 Synonymous SNV L347L 0.051 0.057 0.058 19 60 22 0.049 17 4 0 0 1 2.659 12915 chr14 29261309 29261309 - AC rs56025822 LINC01551 0 0 0.187 0 0 0 0 55 0 0 11 0 12916 chr3 12858028 12858028 T C rs3732675 CAND2 Nonsynonymous SNV S440P 0.569 0.63 0.575 225 668 242 0.577 169 188 79 53 59 6.949 12917 chr2 238258814 238258814 C G rs3790993 COL6A3 Synonymous SNV G1678G 0.574 0.581 0.599 226 674 223 0.579 176 190 66 52 61 Benign 3.048 12918 chr14 30066929 30066929 A G rs2230505 PRKD1 Synonymous SNV I734I 0.34 0.302 0.371 144 399 116 0.369 109 72 17 24 27 9.225 12919 chr14 31099738 31099738 A G rs229150 SCFD1 Nonsynonymous SNV K63R 0.415 0.419 0.384 155 487 161 0.397 113 97 36 22 25 22.6 12920 chr3 12859004 12859004 A C rs3732678 CAND2 Nonsynonymous SNV H765P 0.564 0.612 0.599 228 662 235 0.585 176 186 75 57 62 13.1 12921 chr12 49689009 49689009 G A rs57451017 PRPH Nonsynonymous SNV R9Q 0.027 0.036 0.014 10 32 14 0.026 4 0 1 0 0 not provided 24.1 12922 chr14 31355096 31355096 C G rs1045644 COCH Nonsynonymous SNV T352S 0.605 0.565 0.558 233 710 217 0.597 164 210 60 44 73 Benign 12.39 12923 chr3 12875443 12875443 G A rs12629133 CAND2 Nonsynonymous SNV A1108T 0.607 0.622 0.636 237 713 239 0.608 187 217 73 58 72 3.584 12924 chr12 52282060 52282060 C T rs697634 ANKRD33 Synonymous SNV R30R 0.333 0.297 0.31 139 391 114 0.356 91 68 20 12 31 12.38 12925 chr14 31381351 31381351 T C rs2273171 STRN3 Nonsynonymous SNV N387S 0.47 0.372 0.429 184 552 143 0.472 126 126 22 24 48 23.1 12926 chr12 52282873 52282873 A T rs697636 ANKRD33 Nonsynonymous SNV Y5F 0.338 0.315 0.33 142 397 121 0.364 97 72 20 14 31 20.3 12927 chr3 12942851 12942851 C - rs397988742 IQSEC1 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 12928 chr3 13361287 13361287 C T rs354478 NUP210 Nonsynonymous SNV V1787M 0.486 0.492 0.503 200 570 189 0.513 148 130 51 42 51 10.09 12929 chr14 31425437 31425437 T C rs12886419 STRN3 Synonymous SNV A98A 0.223 0.305 0.289 99 262 117 0.254 85 22 18 15 13 11.11 12930 chr14 31582380 31582380 A G rs1315794 HECTD1 Nonsynonymous SNV L2027P 0.608 0.682 0.983 277 714 262 0.71 289 357 131 144 138 13.65 12931 chr12 49721015 49721015 C T rs78961476 TROAP Nonsynonymous SNV R265C 0.031 0.044 0.02 11 36 17 0.028 6 0 1 0 0 29.4 12932 chr3 13361391 13361391 A G rs354479 NUP210 Nonsynonymous SNV L1752S 0.738 0.747 0.731 303 866 287 0.777 215 320 114 77 118 10.16 12933 chr12 58109662 58109662 C T OS9 Synonymous SNV L200L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 14.99 12934 chr14 31582526 31582526 T C rs2273483 HECTD1 Synonymous SNV L2007L 0.354 0.443 0.374 138 416 170 0.354 110 74 40 19 26 0.021 12935 chr12 49722793 49722793 C T rs2230550 TROAP Synonymous SNV P325P 0.031 0.044 0.02 11 36 17 0.028 6 0 1 0 0 12.14 12936 chr3 13364876 13364876 G T rs514084 NUP210 Synonymous SNV T1567T 0.484 0.484 0.486 200 568 186 0.513 143 129 51 40 52 8.91 12937 chr14 31590599 31590599 A G rs201612618 HECTD1 Nonsynonymous SNV I1743T 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 Likely benign 19.81 12938 chr2 238483671 238483671 G A rs59945834 RAB17 Synonymous SNV C210C 0.175 0.172 0.167 75 205 66 0.192 49 22 5 2 8 5.77 12939 chr12 53431298 53431298 T A rs146008363 EIF4B Nonsynonymous SNV L432Q 0.039 0.026 0.037 19 46 10 0.049 11 0 1 0 0 24.4 12940 chr3 13367406 13367406 C T rs665064 NUP210 Synonymous SNV S1511S 0.417 0.438 0.435 180 489 168 0.462 128 95 44 34 41 15.25 12941 chr2 238483729 238483729 A G rs2280289 RAB17 Nonsynonymous SNV L191P 0.175 0.177 0.163 75 206 68 0.192 48 22 5 2 8 0.057 12942 chr3 13379400 13379400 C T rs3773302 NUP210 Synonymous SNV E1163E 0.582 0.563 0.558 208 683 216 0.533 164 191 68 52 55 11.32 12943 chr12 58197363 58197363 C T rs142606117 AVIL Synonymous SNV E587E 0.014 0.018 0.007 1 16 7 0.003 2 1 0 0 0 9.702 12944 chr14 31647241 31647241 G A rs2274201 HECTD1 Synonymous SNV A120A 0.353 0.456 0.367 131 415 175 0.336 108 70 41 19 26 14.81 12945 chr3 13383540 13383540 A G rs2271504 NUP210 Synonymous SNV F1016F 0.63 0.607 0.592 231 740 233 0.592 174 227 79 55 69 0.067 12946 chr14 31647448 31647448 G A rs34666986 HECTD1 Synonymous SNV R51R 0.138 0.169 0.133 48 162 65 0.123 39 9 4 4 3 6.943 12947 chr2 238494742 238494742 A G rs3751112 RAB17 Nonsynonymous SNV V19A 0.131 0.125 0.112 56 154 48 0.144 33 11 1 1 3 0.002 12948 chr12 53777171 53777171 A G rs3741651 SP1 Synonymous SNV Q432Q 0.126 0.125 0.136 58 148 48 0.149 40 7 1 6 4 0.017 12949 chr14 31819047 31819047 C T rs3736918 HEATR5A Nonsynonymous SNV V886M 0.899 0.898 0.888 360 1056 345 0.923 261 472 154 117 165 32 12950 chr3 13395579 13395579 C A rs2280084 NUP210 Nonsynonymous SNV R786L 0.629 0.602 0.592 228 739 231 0.585 174 226 77 55 67 16.72 12951 chr12 54109659 54109659 C T rs3741659 CALCOCO1 Nonsynonymous SNV R308K 0.181 0.172 0.173 74 212 66 0.19 51 15 5 4 7 18.56 12952 chr2 238903399 238903399 G A rs12615308 UBE2F Synonymous SNV V30V 0.207 0.169 0.167 63 243 65 0.162 49 26 9 4 6 12.26 12953 chr14 31858209 31858209 C T rs7157977 HEATR5A Nonsynonymous SNV A259T 0.379 0.365 0.367 149 445 140 0.382 108 84 25 21 32 22.1 12954 chr3 13407556 13407556 T C rs3732671 NUP210 Nonsynonymous SNV I608V 0.63 0.604 0.592 231 740 232 0.592 174 227 78 55 69 0.002 12955 chr12 50037745 50037745 G A rs35275181 PRPF40B Synonymous SNV E827E 0.02 0.023 0.017 10 23 9 0.026 5 0 0 0 0 1.772 12956 chr14 31864485 31864485 G C rs7141532 HEATR5A Nonsynonymous SNV P173A 0.991 0.997 0.969 388 1163 383 0.995 285 577 191 139 193 18.16 12957 chr12 54332733 54332733 - TTA rs34421542 HOXC13 L15_M16insI 0.037 0.052 0.041 13 43 20 0.033 12 1 0 0 1 12958 chr3 13421150 13421150 C T rs7628051 NUP210 Nonsynonymous SNV A297T 0.583 0.56 0.554 207 685 215 0.531 163 193 67 51 54 9.457 12959 chr12 52284483 52284483 A G rs7303030 ANKRD33 Synonymous SNV Q57Q 0.214 0.229 0.19 87 251 88 0.223 56 28 8 6 10 0.096 12960 chr14 32414145 32414145 C A rs1278926 LINC02313 0 0 0.653 0 0 0 0 192 0 0 69 0 8.044 12961 chr12 54110197 54110197 A G rs2277369 CALCOCO1 Synonymous SNV A284A 0.022 0.026 0.031 4 26 10 0.01 9 0 1 1 0 16.06 12962 chr12 50189602 50189602 A G rs3813526 NCKAP5L Nonsynonymous SNV S681P 0.072 0.099 0.071 20 85 38 0.051 21 4 0 0 1 9.134 12963 chr12 52284668 52284668 C A rs12368048 ANKRD33 Nonsynonymous SNV T119N 0.237 0.255 0.221 90 278 98 0.231 65 33 10 8 10 29.4 12964 chr14 32419331 32419331 C T rs1278942 LINC02313 0 0 0.772 0 0 0 0 227 0 0 87 0 12.26 12965 chr12 6030302 6030302 T C rs3741902 ANO2 Synonymous SNV G146G 0.214 0.227 0.17 75 251 87 0.192 50 26 11 4 7 0.065 12966 chr3 13670481 13670481 A G rs2242023 FBLN2 Synonymous SNV T835T 0.721 0.698 0.694 262 847 268 0.672 204 311 95 73 90 0.419 12967 chr12 547592 547592 C T rs146521066 CCDC77 Nonsynonymous SNV L273F 0.006 0.005 0 0 7 2 0 0 0 0 0 0 23.7 12968 chr12 6030313 6030313 T C rs199618060 ANO2 Nonsynonymous SNV I143V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.023 12969 chr14 32419398 32419398 G A rs2236532 LINC02313 0 0 0.537 0 0 0 0 158 0 0 45 0 11.18 12970 chr3 13670508 13670508 G A rs41283996 FBLN2 Synonymous SNV A844A 0.109 0.107 0.122 51 128 41 0.131 36 8 3 2 3 8.236 12971 chr12 52284897 52284897 C T rs147230326 ANKRD33 Synonymous SNV P389P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.14 12972 chr14 33015014 33015014 G A rs7150894 AKAP6 Synonymous SNV T385T 0.55 0.56 0.548 210 646 215 0.538 161 175 61 50 54 4.816 12973 chr3 13670536 13670536 A G rs9843344 FBLN2 Nonsynonymous SNV T854A 0.724 0.698 0.704 262 850 268 0.672 207 311 95 75 90 0.054 12974 chr14 33046388 33046388 A G rs1950703 AKAP6 Synonymous SNV E803E 0.865 0.859 0.803 318 1015 330 0.815 236 438 142 93 131 0.07 12975 chr12 6030405 6030405 A G rs3741903 ANO2 Nonsynonymous SNV V112A 0.219 0.229 0.173 78 257 88 0.2 51 27 11 4 9 0.001 12976 chr14 33292743 33292743 A C rs2239647 AKAP6 Synonymous SNV G1908G 0.532 0.57 0.571 199 625 219 0.51 168 171 61 52 47 0.002 12977 chr14 33293022 33293022 A G rs1051694 AKAP6 Synonymous SNV A2001A 0.147 0.161 0.143 68 172 62 0.174 42 11 4 1 1 0.006 12978 chr3 13670776 13670776 T C rs4684968 FBLN2 Synonymous SNV F895F 0.698 0.688 0.67 250 819 264 0.641 197 292 92 66 85 1.974 12979 chr12 50190653 50190653 C T rs3741555 NCKAP5L Synonymous SNV Q330Q 0.076 0.099 0.068 21 89 38 0.054 20 4 0 0 1 10.85 12980 chr14 33293122 33293122 A G rs1051695 AKAP6 Nonsynonymous SNV N2035D 0.521 0.557 0.571 189 612 214 0.485 168 168 56 52 42 0.445 12981 chr12 54778212 54778212 G A rs146947705 ZNF385A Synonymous SNV T29T 0.013 0.029 0.01 7 15 11 0.018 3 0 0 0 0 13.76 12982 chr12 6030437 6030437 A G rs3741904 ANO2 Synonymous SNV Y101Y 0.065 0.065 0.058 18 76 25 0.046 17 4 1 1 1 0.012 12983 chr3 13679203 13679203 G A rs1061375 FBLN2 Synonymous SNV T1113T 0.393 0.359 0.381 161 461 138 0.413 112 96 20 21 36 11.75 12984 chr12 50190667 50190667 A T rs3741554 NCKAP5L Nonsynonymous SNV L326M 0.066 0.089 0.061 20 78 34 0.051 18 3 0 0 1 22.1 12985 chr12 6061559 6061559 C T rs7962217 VWF Nonsynonymous SNV G2705R 0.05 0.052 0.061 19 59 20 0.049 18 6 0 1 0 Benign/Likely benign 33 12986 chr3 13679335 13679335 C T rs1061376 FBLN2 Synonymous SNV D1157D 0.393 0.357 0.378 162 461 137 0.415 111 96 20 20 36 16.75 12987 chr14 33293531 33293531 T A rs4647899 AKAP6 Nonsynonymous SNV F2171Y 0.273 0.279 0.327 97 321 107 0.249 96 51 19 19 10 13.13 12988 chr3 13896140 13896140 A G rs3762719 WNT7A Synonymous SNV S153S 0.144 0.151 0.129 56 169 58 0.144 38 20 1 2 3 6.701 12989 chr14 34985645 34985645 G A rs7797 EAPP Synonymous SNV A243A 0.327 0.365 0.367 149 384 140 0.382 108 70 25 20 26 9.413 12990 chr3 13896284 13896284 C T rs12639607 WNT7A Synonymous SNV A105A 0.143 0.151 0.129 56 168 58 0.144 38 20 1 2 3 12.65 12991 chr14 35062312 35062312 C T rs12432539 SNX6 Synonymous SNV E182E 0.77 0.771 0.772 306 904 296 0.785 227 368 124 91 118 18.13 12992 chr3 14105882 14105882 C A rs4684179 TPRXL 0.359 0.352 0.153 174 422 135 0.446 45 158 54 20 62 11.46 12993 chr14 35231108 35231108 A T rs1044140 BAZ1A Nonsynonymous SNV N1334K 0.102 0.104 0.122 37 120 40 0.095 36 6 2 2 2 12.14 12994 chr3 14174427 14174427 A T rs4685076 TMEM43 Nonsynonymous SNV K168N 0.226 0.253 0.252 111 265 97 0.285 74 31 13 11 15 Benign/Likely benign 19.4 12995 chr12 6138595 6138595 C T rs1800380 VWF Synonymous SNV R960R 0.224 0.229 0.18 70 263 88 0.179 53 25 15 3 4 Benign/Likely benign 13.87 12996 chr12 52711549 52711549 G A rs2857667 KRT83 Synonymous SNV C222C 0.387 0.414 0.361 142 454 159 0.364 106 93 30 29 24 Benign 10.81 12997 chr2 239051550 239051550 T C rs935411 KLHL30 Synonymous SNV F295F 0.873 0.896 0.748 328 1025 344 0.841 220 451 154 99 136 0.029 12998 chr12 50232169 50232169 A T rs11169172 BCDIN3D Nonsynonymous SNV S288R 0.072 0.091 0.071 19 84 35 0.049 21 3 0 1 2 0.129 12999 chr14 35331288 35331288 G A rs17592803 BAZ1A Synonymous SNV V118V 0.101 0.102 0.119 36 118 39 0.092 35 6 2 2 2 12.14 13000 chr12 52651961 52651961 A G rs113236725 KRT87P 0.041 0.034 0.034 12 48 13 0.031 10 0 1 0 0 16.29 13001 chr3 14175262 14175262 T C rs2340917 TMEM43 Nonsynonymous SNV M179T 0.227 0.25 0.269 112 267 96 0.287 79 32 12 12 16 Benign/Likely benign 6.855 13002 chr14 35409701 35409701 A T rs712315 IGBP1P1 0 0 0.762 0 0 0 0 224 0 0 87 0 0.819 13003 chr14 35515696 35515696 C T rs374120883 FAM177A1 Synonymous SNV T9T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.45 13004 chr2 239157708 239157708 C G PER2 Nonsynonymous SNV V1205L 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 15.6 13005 chr14 35546373 35546373 T C rs3211139 FAM177A1 Synonymous SNV G119G 0.2 0.185 0.235 66 235 71 0.169 69 28 12 10 7 0.843 13006 chr3 14187449 14187449 G T rs2228001 XPC Nonsynonymous SNV Q746K 0.514 0.49 0.476 236 604 188 0.605 140 162 49 45 71 drug response 12.01 13007 chr14 35550465 35550466 AA - rs139237361 LOC101927178 0.148 0.143 0.224 55 174 55 0.141 66 28 12 10 7 13008 chr14 35873770 35873770 G A rs1957106 NFKBIA Synonymous SNV D27D 0.276 0.258 0.255 111 324 99 0.285 75 41 9 14 15 Benign 10.16 13009 chr2 239165663 239165663 T C rs2304669 PER2 Synonymous SNV A655A 0.135 0.148 0.102 60 159 57 0.154 30 14 8 1 6 0.89 13010 chr14 36004075 36004075 A G rs1958260 INSM2 Nonsynonymous SNV D206G 0.999 0.997 0.976 389 1173 383 0.997 287 586 191 142 194 0.005 13011 chr3 14193889 14193889 C T rs2227998 XPC Synonymous SNV R494R 0.216 0.25 0.248 98 253 96 0.251 73 30 14 11 10 Benign 15.05 13012 chr14 36789729 36789729 T G rs3168891 MBIP Nonsynonymous SNV R22S 0.953 0.956 0.932 373 1119 367 0.956 274 532 176 128 178 10.45 13013 chr3 14197987 14197987 A T rs2958057 XPC Synonymous SNV A434A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 3.592 13014 chr12 55715048 55715048 C T rs7132600 OR6C1 Nonsynonymous SNV T222I 0.177 0.141 0.19 55 208 54 0.141 56 21 6 6 5 24.1 13015 chr14 36789775 36789775 A T rs2899849 MBIP Nonsynonymous SNV L7H 0.945 0.951 0.895 371 1109 365 0.951 263 522 174 120 176 0.607 13016 chr12 6172202 6172202 T C rs1800378 VWF Nonsynonymous SNV H484R 0.685 0.682 0.735 265 804 262 0.679 216 283 89 82 85 Benign/Likely benign 0.003 13017 chr3 14444244 14444244 T - rs67046817 SLC6A6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13018 chr3 14444250 14444250 T - rs66528743 SLC6A6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13019 chr14 37135752 37135752 C T rs12881240 PAX9 Synonymous SNV H239H 0.184 0.224 0.221 83 216 86 0.213 65 18 8 9 7 Benign 15.73 13020 chr12 49310787 49310787 C A rs79716342 CCDC65 Nonsynonymous SNV H26N 0.032 0.031 0.02 15 38 12 0.038 6 0 0 0 0 Benign 15.02 13021 chr3 14444277 14444277 C - rs397988769 SLC6A6 A61Gfs*34 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13022 chr14 37135753 37135753 G C rs4904210 PAX9 Nonsynonymous SNV A240P 0.428 0.367 0.378 169 503 141 0.433 111 102 25 28 39 Benign 22.7 13023 chr2 240055966 240055966 C T rs35291459 HDAC4 Synonymous SNV P423P 0.043 0.044 0.02 21 51 17 0.054 6 2 0 1 0 12.02 13024 chr3 14444286 14444286 C - rs397988770 SLC6A6 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13025 chr12 52758810 52758810 C T rs112554450 KRT85 Nonsynonymous SNV D189N 0.035 0.042 0.024 6 41 16 0.015 7 0 1 0 0 23.8 13026 chr3 14444309 14444309 T - rs68047955 SLC6A6 0.998 0.995 0.997 389 1172 382 0.997 293 586 191 146 194 13027 chr12 49312540 49312540 C T rs78877829 CCDC65 Nonsynonymous SNV R151C 0.032 0.031 0.017 15 38 12 0.038 5 0 0 0 0 Benign 34 13028 chr12 55725690 55725690 C T rs4318060 OR6C3 Nonsynonymous SNV S69L 0.178 0.138 0.19 53 209 53 0.136 56 21 6 6 5 19.25 13029 chr3 14444319 14444319 T - rs67637606 SLC6A6 0.997 0.99 0.997 389 1170 380 0.997 293 585 190 146 194 13030 chr14 37641880 37641880 C A rs1403 SLC25A21-AS1 0 0 0.656 0 0 0 0 193 0 0 60 0 7.41 13031 chr3 14444327 14444327 T - rs66654032 SLC6A6 0.993 0.99 0.997 385 1166 380 0.987 293 583 190 146 192 13032 chr12 6182828 6182828 A T rs1800387 VWF Nonsynonymous SNV N318K 0.049 0.049 0.054 12 57 19 0.031 16 5 0 1 0 Benign/Likely benign 12.53 13033 chr14 38260034 38260034 T C rs17107106 TTC6 Synonymous SNV S1199S 0.112 0.094 0.116 34 132 36 0.087 34 7 4 2 1 5.261 13034 chr3 14444330 14444330 T - rs67559364 SLC6A6 0.991 0.984 0.99 385 1164 378 0.987 291 582 189 145 192 13035 chr14 38266074 38266074 C T rs9805910 TTC6 Synonymous SNV D48D 0.472 0.529 0.422 193 554 203 0.495 124 128 53 24 44 7.082 13036 chr3 14745857 14745857 G A rs17040196 C3orf20 Nonsynonymous SNV A176T 0.428 0.414 0.459 179 503 159 0.459 135 110 34 29 35 0.121 13037 chr14 39556185 39556185 G C rs8018720 SEC23A Nonsynonymous SNV L211V 0.75 0.763 0.762 326 881 293 0.836 224 368 119 83 142 Benign 14.23 13038 chr12 62778065 62778065 A G rs2044846 USP15 Synonymous SNV P236P 0.593 0.589 0.537 242 696 226 0.621 158 207 71 43 73 0.007 13039 chr3 14755572 14755572 A G rs6765537 C3orf20 Nonsynonymous SNV I285V 0.423 0.406 0.456 176 497 156 0.451 134 108 33 29 33 14.16 13040 chr2 241069348 241069348 G A rs115914450 COPS9 Nonsynonymous SNV R121W 0.009 0.01 0.003 5 10 4 0.013 1 0 1 0 0 7.381 13041 chr12 55846623 55846623 T C rs11171467 OR6C2 Nonsynonymous SNV L209P 0.16 0.13 0.173 47 188 50 0.121 51 17 6 6 3 23.5 13042 chr14 39644498 39644498 G A rs1061583 PNN Synonymous SNV V5V 0.353 0.359 0.316 151 415 138 0.387 93 82 19 12 33 19.55 13043 chr12 62928633 62928633 G A rs10219555 MON2 Nonsynonymous SNV A548T 0.336 0.383 0.381 154 395 147 0.395 112 68 34 26 39 21.1 13044 chr12 56030812 56030812 T C rs200645789 OR10P1 Nonsynonymous SNV I46T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 13.62 13045 chr14 39650234 39650234 A T rs2180792 PNN Nonsynonymous SNV T441S 0.937 0.94 0.918 376 1100 361 0.964 270 514 169 126 181 0.009 13046 chr3 14755617 14755617 C G rs6790129 C3orf20 Nonsynonymous SNV L300V 0.427 0.411 0.459 179 501 158 0.459 135 108 34 29 35 22.9 13047 chr14 39703324 39703324 A G rs7141840 MIA2 Synonymous SNV A2A 0.566 0.583 0.561 248 664 224 0.636 165 193 68 49 82 0.229 13048 chr3 14939479 14939479 G T rs2164356 FGD5 Synonymous SNV L981L 0.71 0.69 0.599 260 833 265 0.667 176 295 98 53 83 10.49 13049 chr14 39716808 39716808 T C rs3825549 MIA2 Nonsynonymous SNV S344P 0.106 0.138 0.088 43 124 53 0.11 26 5 4 1 0 19.89 13050 chr2 241405479 241405479 C T rs1126920 GPC1 Synonymous SNV D483D 0.067 0.065 0.054 26 79 25 0.067 16 5 1 0 2 17.98 13051 chr3 15301363 15301363 G A rs2291853 SH3BP5-AS1 0.578 0.583 0.622 229 678 224 0.587 183 200 71 56 63 1.54 13052 chr14 39722023 39722023 G C rs10134365 MIA2 Nonsynonymous SNV D547H 0.273 0.255 0.316 99 320 98 0.254 93 41 13 15 11 8.656 13053 chr12 49445028 49445028 G A rs75226229 KMT2D Nonsynonymous SNV P813L 0.023 0.026 0.02 8 27 10 0.021 6 0 0 0 0 Benign 2.761 13054 chr3 15311325 15311325 A G rs1287467 SH3BP5 Synonymous SNV R130R 0.712 0.737 0.677 273 836 283 0.7 199 300 101 66 91 0.124 13055 chr12 55969050 55969050 C A OR2AP1 Nonsynonymous SNV N284K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 13056 chr14 39736680 39736680 T C rs7140561 MIA2 Nonsynonymous SNV V6A 0.94 0.927 0.827 380 1103 356 0.974 243 517 166 117 186 0.001 13057 chr3 15610070 15610070 C T rs905650 HACL1 Synonymous SNV L291L 0.143 0.135 0.16 43 168 52 0.11 47 13 3 4 0 13.37 13058 chr12 52827608 52827608 C T rs2232387 KRT75 Nonsynonymous SNV A161T 0.175 0.174 0.136 78 205 67 0.2 40 19 5 3 5 risk factor 34 13059 chr2 241405608 241405608 A G rs1042841 GPC1 Synonymous SNV G526G 0.068 0.065 0.065 27 80 25 0.069 19 5 1 0 2 0.447 13060 chr3 15686008 15686008 C T rs145388314 BTD Synonymous SNV L195L 0.019 0.018 0.01 8 22 7 0.021 3 0 0 0 0 Conflicting interpretations of pathogenicity 5.831 13061 chr12 5603935 5603935 C T rs10849277 NTF3 Synonymous SNV P185P 0.233 0.206 0.211 72 274 79 0.185 62 32 7 6 9 14.16 13062 chr12 49689643 49689643 C T LOC101927267 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.576 13063 chr12 644337 644337 G A rs2075033 B4GALNT3 Nonsynonymous SNV G59S 0.093 0.102 0.095 40 109 39 0.103 28 3 2 2 3 9.284 13064 chr14 39818028 39818028 A G rs1140952 MIA2 Nonsynonymous SNV I601V 0.464 0.458 0.442 182 545 176 0.467 130 127 43 29 39 0.001 13065 chr12 55368291 55368291 C T rs62623446 TESPA1 Nonsynonymous SNV R19H 0.069 0.096 0.065 24 81 37 0.062 19 3 4 2 0 32 13066 chr3 15737689 15737689 G A rs2470548 ANKRD28 Synonymous SNV N353N 0.605 0.62 0.537 240 710 238 0.615 158 219 74 41 76 13.29 13067 chr12 52827786 52827786 C T rs2232385 KRT75 Synonymous SNV G101G 0.175 0.177 0.136 78 206 68 0.2 40 19 5 3 5 10.69 13068 chr2 241463453 241463453 C A rs3821348 ANKMY1 Nonsynonymous SNV V242L 0.164 0.143 0.122 53 192 55 0.136 36 22 6 3 2 0.005 13069 chr3 15737698 15737698 T C rs2470549 ANKRD28 Synonymous SNV Q350Q 0.6 0.612 0.527 239 704 235 0.613 155 218 72 39 76 3.113 13070 chr14 39818145 39818145 G A rs1060878 MIA2 Nonsynonymous SNV G640R 0.326 0.313 0.35 108 383 120 0.277 103 57 22 19 17 9.459 13071 chr12 56105894 56105894 G A rs11171663 ITGA7 Nonsynonymous SNV T13I 0.015 0.008 0.007 4 18 3 0.01 2 0 0 0 0 Likely benign 13.11 13072 chr12 64485153 64485153 G A rs74691643 SRGAP1 Nonsynonymous SNV V512I 0.049 0.039 0.041 21 58 15 0.054 12 0 0 0 3 8.957 13073 chr3 16261420 16261420 C T rs2271077 GALNT15 Nonsynonymous SNV H40Y 0.11 0.094 0.112 53 129 36 0.136 33 5 1 0 2 15.88 13074 chr14 39871017 39871017 T C rs7156962 FBXO33 Synonymous SNV K253K 0.11 0.156 0.126 47 129 60 0.121 37 6 4 2 4 0.102 13075 chr2 241531479 241531479 A G rs3792269 CAPN10 Synonymous SNV P200P 0.139 0.135 0.143 69 163 52 0.177 42 17 7 3 4 0.011 13076 chr12 49730135 49730135 G C rs146137821 C1QL4 Synonymous SNV P42P 0.111 0.117 0.051 61 130 45 0.156 15 6 3 0 3 6.949 13077 chr12 52908872 52908872 C T rs11549949 KRT5 Nonsynonymous SNV G543S 0.185 0.19 0.177 87 217 73 0.223 52 21 7 1 7 Benign 0.686 13078 chr14 39900836 39900836 A G rs45453296 FBXO33 Synonymous SNV R177R 0.032 0.063 0.027 12 37 24 0.031 8 1 1 0 0 5.987 13079 chr2 241536126 241536126 A G rs7607759 CAPN10 Nonsynonymous SNV T504A 0.139 0.133 0.143 69 163 51 0.177 42 17 7 3 4 0.001 13080 chr3 16305674 16305674 C G rs14080 DPH3 Synonymous SNV V57V 0.404 0.393 0.388 147 474 151 0.377 114 95 35 23 27 13.4 13081 chr14 39901157 39901157 C A rs61999077 FBXO33 Synonymous SNV S70S 0.093 0.133 0.105 39 109 51 0.1 31 4 3 2 1 17.66 13082 chr3 16312564 16312564 C T rs842259 OXNAD1 Synonymous SNV H53H 0.403 0.393 0.388 146 473 151 0.374 114 94 35 23 27 11.22 13083 chr12 52908917 52908917 T C rs11549950 KRT5 Nonsynonymous SNV S528G 0.185 0.19 0.177 87 217 73 0.223 52 21 7 1 7 Benign 0.005 13084 chr14 42360633 42360633 T C rs6572117 LRFN5 Synonymous SNV S522S 0.835 0.813 0.81 323 980 312 0.828 238 406 125 97 132 0.097 13085 chr12 6457062 6457062 T C rs2228576 SCNN1A Nonsynonymous SNV T722A 0.727 0.75 0.442 277 853 288 0.71 130 307 108 50 102 Benign 0.002 13086 chr3 16327855 16327855 T G rs842274 OXNAD1 Nonsynonymous SNV S82A 0.404 0.393 0.388 147 474 151 0.377 114 93 35 23 27 10.86 13087 chr14 44974189 44974189 C A rs11621923 FSCB Nonsynonymous SNV A668S 0.445 0.427 0.384 152 523 164 0.39 113 122 30 25 28 2.534 13088 chr12 52911401 52911401 T G rs4761924 KRT5 Synonymous SNV T355T 0.186 0.19 0.177 86 218 73 0.221 52 21 7 1 7 Benign 0.032 13089 chr14 44974922 44974922 A T rs3825632 FSCB Nonsynonymous SNV D423E 0.471 0.453 0.422 172 553 174 0.441 124 132 36 29 37 0.002 13090 chr3 16358584 16358584 T C rs690241 RFTN1 Synonymous SNV S496S 0.595 0.602 0.602 240 698 231 0.615 177 204 74 55 72 0.013 13091 chr12 52912768 52912768 C T rs1132948 KRT5 Synonymous SNV L244L 0.186 0.19 0.18 86 218 73 0.221 53 21 7 1 7 Benign 12.85 13092 chr12 50848132 50848132 T A rs17124706 LARP4 Nonsynonymous SNV F280L 0.082 0.068 0.048 24 96 26 0.062 14 0 1 0 0 24.3 13093 chr3 16364919 16364919 A C rs690216 RFTN1 Synonymous SNV P432P 0.581 0.596 0.605 237 682 229 0.608 178 195 75 56 70 1.231 13094 chr14 44975510 44975510 C T rs3809430 FSCB Synonymous SNV P227P 0.368 0.359 0.313 133 432 138 0.341 92 78 23 17 24 9.842 13095 chr2 241696841 241696843 TCC - rs10594016 KIF1A E917del 0.553 0.581 0.595 222 649 223 0.569 175 181 64 64 63 13096 chr12 52912870 52912870 A G rs17852231 KRT5 Synonymous SNV T210T 0.186 0.19 0.18 86 218 73 0.221 53 21 7 1 7 Benign 0.032 13097 chr3 17202649 17202649 A T rs145128826 TBC1D5 Nonsynonymous SNV S596T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.017 13098 chr14 45403699 45403699 C A rs117295933 KLHL28 Nonsynonymous SNV R335L 0.017 0.01 0.017 2 20 4 0.005 5 2 0 0 0 29.2 13099 chr2 241713646 241713646 A G rs1063353 KIF1A Synonymous SNV L331L 0.331 0.357 0.415 148 389 137 0.379 122 58 19 25 26 Benign 1.277 13100 chr12 50045189 50045189 C T rs147771934 FMNL3 Nonsynonymous SNV V499M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 22.8 13101 chr14 45432998 45432998 C T rs760128686 TOGARAM1 Synonymous SNV I458I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 13102 chr2 241727627 241727627 C A rs141052770 KIF1A Synonymous SNV A68A 0.015 0.005 0.017 4 18 2 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 14.69 13103 chr3 18427924 18427924 G T rs2229261 SATB1 Synonymous SNV P390P 0.532 0.484 0.592 204 624 186 0.523 174 165 45 55 56 0.095 13104 chr14 47613364 47613364 G T rs72680210 MDGA2 Synonymous SNV R168R 0.049 0.06 0.037 30 57 23 0.077 11 2 1 0 1 10.41 13105 chr2 241828012 241828012 T C rs6708304 MAB21L4 Synonymous SNV E316E 0.438 0.445 0.459 156 514 171 0.4 135 119 38 30 30 1.745 13106 chr14 50195679 50195679 A G rs4301946 KLHDC1 Synonymous SNV T201T 0.997 0.992 0.983 389 1171 381 0.997 289 584 189 142 194 1.778 13107 chr12 6472752 6472752 G A rs55797039 SCNN1A Nonsynonymous SNV R240W 0.018 0.031 0.014 7 21 12 0.018 4 0 0 0 0 Benign/Likely benign 24.8 13108 chr3 19959756 19959756 G A rs2929366 EFHB Nonsynonymous SNV T382I 0.568 0.555 0.626 212 667 213 0.544 184 230 72 58 64 6.607 13109 chr14 50251369 50251369 A G rs10143621 NEMF Synonymous SNV N1051N 1 0.997 0.99 389 1174 383 0.997 291 587 191 145 194 2.899 13110 chr14 50298962 50298962 T A rs3100906 NEMF Nonsynonymous SNV S257C 0.993 0.992 0.993 389 1166 381 0.997 292 579 189 145 194 26.8 13111 chr12 52913730 52913730 G A rs11549951 KRT5 Synonymous SNV L117L 0.111 0.12 0.092 47 130 46 0.121 27 7 3 0 3 Benign 11.38 13112 chr12 6472753 6472753 C A rs55859427 SCNN1A Synonymous SNV L239L 0.018 0.031 0.014 7 21 12 0.018 4 0 0 0 0 Benign 12.83 13113 chr3 19961330 19961330 C T rs2931403 EFHB Nonsynonymous SNV V331I 0.761 0.719 0.731 299 894 276 0.767 215 340 97 80 113 0.002 13114 chr2 241830969 241830969 G A rs10171067 MAB21L4 Synonymous SNV S242S 0.452 0.458 0.446 162 531 176 0.415 131 117 38 29 31 6.948 13115 chr12 64875787 64875787 T A rs7486100 TBK1 Synonymous SNV I326I 0.491 0.5 0.469 213 577 192 0.546 138 140 49 39 56 Benign 8.372 13116 chr14 50474006 50474006 C G rs4898643 LINC01588 0 0 0.102 0 0 0 0 30 0 0 0 0 6.817 13117 chr12 56559454 56559454 G A rs145178493 SMARCC2 Synonymous SNV A929A 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 15.05 13118 chr2 241831005 241831005 C T rs10195453 MAB21L4 Synonymous SNV R230R 0.447 0.456 0.459 160 525 175 0.41 135 116 37 29 30 8.896 13119 chr14 50583083 50583083 G T rs11157729 VCPKMT Nonsynonymous SNV A63D 0.147 0.13 0.122 60 172 50 0.154 36 11 2 1 4 16.27 13120 chr12 52992743 52992743 C T rs142970524 KRT72 Nonsynonymous SNV G194R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.23 13121 chr3 19962044 19962044 G A rs13078867 EFHB Nonsynonymous SNV P269S 0.304 0.273 0.303 110 357 105 0.282 89 58 20 18 18 23.4 13122 chr2 241831296 241831296 C G rs6709469 MAB21L4 Nonsynonymous SNV A21P 0.448 0.456 0.459 160 526 175 0.41 135 117 37 29 30 6.283 13123 chr12 65146532 65146532 C T rs1147096 GNS Synonymous SNV P66P 0.566 0.536 0.531 201 665 206 0.515 156 192 60 46 52 Benign 15.16 13124 chr14 50585248 50585248 C T rs2227276 SOS2 Synonymous SNV P1271P 0.147 0.13 0.122 60 172 50 0.154 36 11 2 1 4 Benign 11.12 13125 chr12 52943835 52943835 C T rs147452537 KRT71 Nonsynonymous SNV V212I 0.008 0.003 0 0 9 1 0 0 0 0 0 0 11.38 13126 chr3 19975215 19975215 C A rs17795400 EFHB Nonsynonymous SNV G99V 0.313 0.279 0.306 115 368 107 0.295 90 60 19 16 18 9.055 13127 chr2 241834944 241834944 T C rs4468809 MAB21L4 Synonymous SNV V157V 0.448 0.456 0.459 160 526 175 0.41 135 116 37 29 30 0.98 13128 chr14 50769717 50769717 G A rs2297995 L2HGDH Synonymous SNV I53I 0.509 0.49 0.558 168 598 188 0.431 164 148 44 49 28 Benign/Likely benign 7.914 13129 chr2 241835379 241835379 G A rs12105122 MAB21L4 Synonymous SNV A12A 0.443 0.451 0.415 156 520 173 0.4 122 117 36 29 30 6.455 13130 chr14 50778816 50778816 A C rs2275591 L2HGDH Nonsynonymous SNV L18R 0.537 0.513 0.571 183 631 197 0.469 168 166 49 51 38 Benign/Likely benign 0.013 13131 chr3 19992432 19992432 G T rs6773437 RAB5A Synonymous SNV T14T 0.658 0.646 0.646 266 772 248 0.682 190 248 84 57 89 11.74 13132 chr3 20042834 20042834 C T rs4103004 PP2D1 Nonsynonymous SNV A260T 0.378 0.38 0.347 164 444 146 0.421 102 71 35 14 33 10.31 13133 chr12 53007601 53007601 C T rs750050869 KRT73 Synonymous SNV T285T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.33 13134 chr14 50788213 50788213 C T rs2275592 DMAC2L Nonsynonymous SNV P3L 0.537 0.516 0.575 186 630 198 0.477 169 165 50 50 38 19.13 13135 chr12 65563712 65563712 C T rs61736594 LEMD3 Synonymous SNV A112A 0.053 0.065 0.061 23 62 25 0.059 18 2 1 0 1 Benign 7.277 13136 chr14 50799126 50799126 G C rs7161563 CDKL1 Nonsynonymous SNV Q275E 0.537 0.508 0.578 185 631 195 0.474 170 166 48 51 39 0.203 13137 chr3 20113830 20113830 G A rs3021408 KAT2B Synonymous SNV E103E 0.33 0.349 0.289 109 388 134 0.279 85 56 22 17 14 10.91 13138 chr3 20141356 20141356 C T rs35424474 KAT2B Synonymous SNV L193L 0.064 0.057 0.136 26 75 22 0.067 40 12 4 3 5 17.17 13139 chr12 57135325 57135325 C T rs371616402 PRIM1 Synonymous SNV L292L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.9 13140 chr14 51057727 51057727 G A rs1060197 ATL1 Synonymous SNV E117E 0.68 0.708 0.622 264 798 272 0.677 183 270 94 51 84 Benign 9.289 13141 chr12 6560573 6560573 G T rs1059501 CD27-AS1 0.526 0.563 0.401 186 617 216 0.477 118 166 67 35 43 Benign 4.333 13142 chr3 21462754 21462754 A G rs451242 ZNF385D Synonymous SNV P380P 0.754 0.792 0.779 284 885 304 0.728 229 341 120 91 106 0.173 13143 chr14 51223789 51223789 C T rs2073347 NIN Nonsynonymous SNV G1320E 0.81 0.818 0.823 317 951 314 0.813 242 384 127 102 126 Benign 12.54 13144 chr3 21462787 21462787 G A rs427233 ZNF385D Synonymous SNV S369S 0.808 0.846 0.833 314 949 325 0.805 245 391 139 101 130 10.17 13145 chr12 6562753 6562753 A G rs2532501 TAPBPL Nonsynonymous SNV M146V 0.612 0.633 0.561 243 719 243 0.623 165 226 83 51 71 0.001 13146 chr2 241979550 241979550 T C rs7571117 SNED1 Synonymous SNV N368N 0.486 0.521 0.531 181 571 200 0.464 156 146 50 42 41 0.007 13147 chr3 23997547 23997547 A G rs61732086 NR1D2 Synonymous SNV L26L 0.01 0.005 0.01 8 12 2 0.021 3 0 0 0 0 7.935 13148 chr14 51224374 51224374 T G rs12882191 NIN Nonsynonymous SNV Q1125P 0.813 0.828 0.827 317 955 318 0.813 243 387 129 103 126 Benign 0.001 13149 chr12 51771040 51771040 T C rs2277379 GALNT6 Synonymous SNV L201L 0.057 0.047 0.061 32 67 18 0.082 18 1 1 0 2 8.439 13150 chr3 24006477 24006477 T A rs4858097 NR1D2 Nonsynonymous SNV L311M 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 11.32 13151 chr2 242004866 242004866 A G rs2286321 SNED1 Synonymous SNV T955T 0.185 0.201 0.177 71 217 77 0.182 52 20 8 7 7 0.303 13152 chr12 6562810 6562810 A G rs2532500 TAPBPL Nonsynonymous SNV T165A 0.612 0.633 0.561 243 719 243 0.623 165 226 83 51 71 0.001 13153 chr14 51224417 51224417 G C rs2236316 NIN Nonsynonymous SNV P1111A 0.301 0.297 0.33 117 353 114 0.3 97 56 18 20 17 Likely benign 0.001 13154 chr12 55863224 55863224 C G rs60683621 OR6C70 Nonsynonymous SNV K233N 0.198 0.203 0.204 99 232 78 0.254 60 18 6 5 10 7.965 13155 chr3 24184995 24184995 G A rs3752874 THRB Synonymous SNV F214F 0.161 0.203 0.187 66 189 78 0.169 55 16 7 3 10 Benign 2.766 13156 chr14 51239067 51239067 C G rs8020503 NIN Synonymous SNV L311L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Likely benign 11.25 13157 chr3 27204052 27204052 G A rs17854381 NEK10 Synonymous SNV H282H 0.388 0.414 0.361 128 456 159 0.328 106 92 32 19 26 8.163 13158 chr12 6567907 6567907 C T rs1045546 TAPBPL Nonsynonymous SNV T334M 0.164 0.174 0.112 58 193 67 0.149 33 19 5 1 2 19.37 13159 chr14 51290141 51290141 A G rs9672090 LOC105370489 0 0 0.993 0 0 0 0 292 0 0 145 0 2.694 13160 chr14 51370852 51370852 C G rs34800262 ABHD12B Nonsynonymous SNV P258A 0.107 0.096 0.112 49 126 37 0.126 33 6 2 2 5 24.4 13161 chr3 27243045 27243045 G C rs17680166 NEK10 Synonymous SNV V61V 0.388 0.419 0.364 130 455 161 0.333 107 92 32 19 26 10.93 13162 chr2 242033766 242033766 G A rs115811215 MTERF4 Nonsynonymous SNV S201L 0.003 0.008 0 3 4 3 0.008 0 0 1 0 0 6.029 13163 chr3 27297816 27297816 G C rs3213930 NEK10 Synonymous SNV T687T 0.596 0.609 0.582 215 700 234 0.551 171 215 74 48 57 6.789 13164 chr14 51446216 51446216 T G rs2275462 TRIM9 Nonsynonymous SNV L653F 0.564 0.573 0.656 236 662 220 0.605 193 187 68 63 70 19.6 13165 chr12 657404 657404 G A rs11063529 B4GALNT3 Nonsynonymous SNV R265Q 0.252 0.224 0.269 98 296 86 0.251 79 42 11 14 14 15.04 13166 chr3 27326097 27326097 G T rs11129280 NEK10 Synonymous SNV T670T 0.375 0.411 0.262 130 440 158 0.333 77 87 31 17 25 11.98 13167 chr14 51716188 51716188 T G rs7161242 TMX1 Synonymous SNV T164T 0.762 0.724 0.741 299 895 278 0.767 218 340 101 81 113 12.87 13168 chr12 661656 661656 A G rs7298766 B4GALNT3 Nonsynonymous SNV K411R 0.343 0.328 0.367 125 403 126 0.321 108 72 24 23 21 19.93 13169 chr14 51716467 51716467 G A rs7160810 TMX1 Synonymous SNV P216P 0.691 0.643 0.724 278 811 247 0.713 213 342 103 80 116 14.28 13170 chr3 27326451 27326451 A G rs10510594 NEK10 Synonymous SNV N597N 0.329 0.349 0.357 105 386 134 0.269 105 92 32 20 25 11.64 13171 chr14 52182081 52182081 T A rs731715 FRMD6 Synonymous SNV S296S 0.653 0.654 0.626 261 767 251 0.669 184 255 83 59 87 3.802 13172 chr12 55886489 55886489 T A rs7304753 OR6C68 Nonsynonymous SNV F110I 0.198 0.203 0.204 99 233 78 0.254 60 18 6 5 10 25.3 13173 chr3 27332177 27332177 T C rs674303 NEK10 Synonymous SNV G558G 0.213 0.195 0.197 85 250 75 0.218 58 26 7 7 11 2.647 13174 chr14 52186966 52186966 G A rs2277495 FRMD6 Synonymous SNV T48T 0.308 0.289 0.265 121 362 111 0.31 78 60 14 10 20 6.118 13175 chr14 52496387 52496387 C A rs2273430 NID2 Nonsynonymous SNV G760V 0.998 0.997 0.976 386 1172 383 0.99 287 585 191 140 191 11.33 13176 chr3 27332820 27332820 A G rs10510592 NEK10 Nonsynonymous SNV L513S 0.382 0.417 0.364 131 449 160 0.336 107 92 33 20 25 9.834 13177 chr12 55887087 55887087 G T rs12579181 OR6C68 Nonsynonymous SNV R309L 0.204 0.203 0.16 98 239 78 0.251 47 20 6 5 10 9.973 13178 chr2 242065624 242065624 A G rs2240541 PASK Synonymous SNV D902D 0.122 0.125 0.068 48 143 48 0.123 20 10 5 1 3 0.028 13179 chr14 52496407 52496407 C T rs2273431 NID2 Synonymous SNV E753E 0.858 0.891 0.844 323 1007 342 0.828 248 428 152 103 132 1.512 13180 chr12 662838 662838 T C rs1056008 B4GALNT3 Synonymous SNV P583P 0.287 0.271 0.323 110 337 104 0.282 95 48 16 21 18 0.036 13181 chr3 27424718 27424718 A G rs1472256 SLC4A7 Synonymous SNV D1044D 0.934 0.953 0.912 346 1097 366 0.887 268 511 174 121 152 4.52 13182 chr14 52507429 52507429 A G rs3742536 NID2 Nonsynonymous SNV S656P 0.804 0.799 0.796 313 944 307 0.803 234 372 121 90 128 14.66 13183 chr12 663048 663048 C T rs748074776 B4GALNT3 Synonymous SNV I653I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.59 13184 chr3 27442336 27442336 G A rs3736312 SLC4A7 Synonymous SNV N654N 0.167 0.18 0.15 68 196 69 0.174 44 13 6 4 8 8.257 13185 chr12 6635274 6635274 G A rs10849482 NCAPD2 Nonsynonymous SNV V797M 0.195 0.214 0.146 81 229 82 0.208 43 30 7 3 4 28.2 13186 chr12 55968949 55968949 G A rs61746285 OR2AP1 Nonsynonymous SNV G251R 0.068 0.073 0.065 26 80 28 0.067 19 2 3 1 0 24 13187 chr14 52509501 52509501 T C rs3818186 NID2 Synonymous SNV E526E 0.327 0.279 0.347 130 384 107 0.333 102 58 10 14 23 8.593 13188 chr3 27472936 27472936 C T rs3755652 SLC4A7 Nonsynonymous SNV E335K 0.166 0.188 0.156 68 195 72 0.174 46 13 6 4 8 11.21 13189 chr14 52520368 52520368 C T rs2101919 NID2 Nonsynonymous SNV G453D 0.666 0.714 0.639 261 782 274 0.669 188 258 93 54 89 0.099 13190 chr12 53166618 53166618 T C KRT76 Synonymous SNV K307K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.929 13191 chr3 27473066 27473066 A G rs13077400 SLC4A7 Synonymous SNV L291L 0.166 0.188 0.16 69 195 72 0.177 47 13 6 4 8 4.211 13192 chr14 52520487 52520487 C T rs140959853 NID2 Synonymous SNV P413P 0 0 0.01 0 0 0 0 3 0 0 0 0 12.54 13193 chr12 6637941 6637941 C T rs10849484 NCAPD2 Synonymous SNV S1132S 0.194 0.214 0.146 80 228 82 0.205 43 29 7 3 4 21.2 13194 chr12 57871388 57871388 G A rs112573859 ARHGAP9 Nonsynonymous SNV P20S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.4 13195 chr14 52520853 52520853 A G rs904059 NID2 Synonymous SNV Y318Y 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.059 13196 chr3 27478899 27478899 A G rs2029618 SLC4A7 Synonymous SNV Y132Y 0.215 0.214 0.194 94 252 82 0.241 57 26 8 4 15 4.239 13197 chr12 57431402 57431402 C T rs33962952 MYO1A Nonsynonymous SNV G662E 0.06 0.07 0.078 23 70 27 0.059 23 3 0 1 1 Benign/Likely benign 9.462 13198 chr14 52535648 52535648 G T rs3920038 NID2 Nonsynonymous SNV P22Q 0.788 0.831 0.765 308 925 319 0.79 225 361 129 83 121 9.372 13199 chr3 27490194 27490194 T C rs13096477 SLC4A7 Synonymous SNV R75R 0.158 0.169 0.139 66 186 65 0.169 41 13 6 2 7 8.744 13200 chr12 66546100 66546100 A G rs8793 TMBIM4 Nonsynonymous SNV I88T 0.396 0.372 0.374 143 465 143 0.367 110 101 31 18 29 4.319 13201 chr3 28294503 28294503 A - rs35600760 CMC1 K15Rfs*2 0.319 0.292 0 117 375 112 0.3 0 53 14 0 15 13202 chr3 28520417 28520417 T A rs1563656 ZCWPW2 Nonsynonymous SNV L202Q 0.393 0.341 0.384 152 461 131 0.39 113 132 40 29 40 0.495 13203 chr12 56092682 56092682 C T rs3847675 ITGA7 Synonymous SNV G274G 0.112 0.13 0.139 43 131 50 0.11 41 10 4 0 1 Benign/Likely benign 15.49 13204 chr12 66605228 66605228 A G rs1152888 IRAK3 Nonsynonymous SNV I86V 0.886 0.875 0.874 347 1040 336 0.89 257 468 149 117 156 0.005 13205 chr12 57435052 57435052 A G rs17546153 MYO1A Synonymous SNV F395F 0.087 0.078 0.102 40 102 30 0.103 30 5 0 3 2 Benign/Likely benign 0.163 13206 chr14 52735108 52735108 C T rs34968651 PTGDR Synonymous SNV G192G 0.103 0.076 0.099 30 121 29 0.077 29 4 0 0 5 15.41 13207 chr3 31712393 31712393 C T rs3749405 OSBPL10 Synonymous SNV P539P 0.4 0.424 0.432 187 470 163 0.479 127 85 36 29 44 9.696 13208 chr14 52781513 52781513 T G rs111965614 PTGER2 Nonsynonymous SNV C83G 0.014 0.021 0.024 2 17 8 0.005 7 0 0 0 0 Benign 26.2 13209 chr12 58010163 58010163 A G rs1564374 ARHGEF25 Nonsynonymous SNV Q476R 0.449 0.458 0.469 189 527 176 0.485 138 116 42 32 39 0.004 13210 chr12 57457959 57457959 T C rs17546579 NEMP1 Nonsynonymous SNV I144V 0.082 0.076 0.102 40 96 29 0.103 30 5 0 3 2 22.5 13211 chr12 66696410 66696410 C T rs3741604 HELB Synonymous SNV R9R 0.59 0.596 0.605 229 693 229 0.587 178 198 69 51 68 13.22 13212 chr3 32031024 32031024 C T rs4449357 ZNF860 Synonymous SNV I151I 0.243 0.247 0.262 91 285 95 0.233 77 36 10 15 12 6.07 13213 chr12 66698895 66698895 T C rs4430553 HELB Nonsynonymous SNV L191P 0.585 0.589 0.626 229 687 226 0.587 184 207 71 54 68 5.728 13214 chr3 32031135 32031135 A G rs6419811 ZNF860 Synonymous SNV S188S 0.244 0.25 0.265 92 287 96 0.236 78 36 10 15 12 0.274 13215 chr14 52906081 52906081 T G rs2249922 TXNDC16 Synonymous SNV R674R 0.355 0.378 0.405 130 417 145 0.333 119 76 32 23 21 0.134 13216 chr12 57486278 57486278 G A rs1057290 NAB2 Synonymous SNV T335T 0.073 0.07 0.095 36 86 27 0.092 28 3 0 2 1 9.727 13217 chr3 32031615 32031615 A C rs13064905 ZNF860 Nonsynonymous SNV E348D 0.245 0.25 0.265 93 288 96 0.238 78 36 10 15 12 0.14 13218 chr14 52937255 52937255 C T rs7155490 TXNDC16 Nonsynonymous SNV E481K 0.166 0.182 0.17 61 195 70 0.156 50 11 10 5 5 14.43 13219 chr12 66704225 66704225 A G rs75770066 HELB Nonsynonymous SNV D506G 0.042 0.049 0.071 24 49 19 0.062 21 2 0 2 0 25.3 13220 chr12 57569478 57569478 C T rs12814239 LRP1 Synonymous SNV C1261C 0.055 0.073 0.037 26 64 28 0.067 11 1 1 0 0 14.02 13221 chr14 53019944 53019944 A G rs147785041 GPR137C Nonsynonymous SNV S27G 0.184 0.195 0.316 73 216 75 0.187 93 65 28 21 20 0.099 13222 chr3 32031622 32031622 T C rs13087612 ZNF860 Nonsynonymous SNV F351L 0.244 0.25 0.269 93 287 96 0.238 79 36 10 15 12 23.1 13223 chr14 53098902 53098902 G A rs762063 GPR137C Nonsynonymous SNV V248I 0.563 0.523 0.534 219 661 201 0.562 157 182 53 41 65 12.97 13224 chr3 32031643 32031643 A G rs13065048 ZNF860 Nonsynonymous SNV T358A 0.244 0.25 0.272 93 287 96 0.238 80 36 10 15 12 0.001 13225 chr12 66838406 66838406 T C rs201867922 GRIP1 Nonsynonymous SNV I497V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.139 13226 chr14 53345378 53345378 G A rs2357947 FERMT2 Synonymous SNV Y295Y 0.939 0.938 0.878 364 1102 360 0.933 258 519 168 112 170 9.063 13227 chr3 32927509 32927509 G T rs6774703 TRIM71 Synonymous SNV T368T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.883 13228 chr14 53529669 53529669 A T rs4898778 DDHD1 Synonymous SNV T586T 0.819 0.807 0.806 337 962 310 0.864 237 395 125 98 147 Benign 0.003 13229 chr12 6707526 6707526 G A rs11539543 CHD4 Synonymous SNV P509P 0.135 0.138 0.109 63 159 53 0.162 32 15 3 2 4 11.87 13230 chr14 53619463 53619463 G A rs2358188 DDHD1 Synonymous SNV H118H 0.819 0.805 0.799 336 961 309 0.862 235 395 124 97 146 Benign 6.385 13231 chr3 32995928 32995928 C T rs2228428 CCR4 Synonymous SNV Y338Y 0.364 0.372 0.364 151 427 143 0.387 107 82 26 21 30 0.019 13232 chr12 6709059 6709059 G A rs11539542 CHD4 Synonymous SNV V447V 0.135 0.138 0.109 62 159 53 0.159 32 15 3 2 4 12.31 13233 chr14 53619480 53619480 - GCCGCC rs140904345 DDHD1 G112_S113insGG 0.815 0.802 0.776 335 957 308 0.859 228 394 123 95 146 13234 chr3 33055721 33055721 A G rs4302331 GLB1 Nonsynonymous SNV C390R 0.997 0.995 0.993 389 1171 382 0.997 292 584 190 145 194 Benign 6.854 13235 chr12 6711147 6711147 C A rs1639122 CHD4 Nonsynonymous SNV E132D 0.265 0.266 0.207 102 311 102 0.262 61 48 13 7 12 0.001 13236 chr14 53619544 53619544 G A rs2358189 DDHD1 Synonymous SNV F91F 0.819 0.805 0.786 336 961 309 0.862 231 395 124 96 146 Benign 9.783 13237 chr14 55227152 55227152 G T rs149416017 SAMD4A Nonsynonymous SNV A75S 0.019 0.034 0.031 12 22 13 0.031 9 1 0 0 0 19.61 13238 chr3 33138544 33138544 A G rs7614776 GLB1 Synonymous SNV L12L 0.899 0.909 0.905 352 1056 349 0.903 266 473 157 120 159 Benign 5.183 13239 chr12 56619474 56619474 T C NABP2 Synonymous SNV I95I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.17 13240 chr12 57666255 57666255 G A rs143617893 R3HDM2 Nonsynonymous SNV P444L 0.011 0.008 0.01 3 13 3 0.008 3 0 0 0 0 22.3 13241 chr12 51213433 51213433 A G rs17291650 ATF1 Synonymous SNV E229E 0.075 0.086 0.017 33 88 33 0.085 5 3 1 0 3 2.822 13242 chr12 56630444 56630444 G C rs74812296 SLC39A5 Nonsynonymous SNV S374T 0.046 0.042 0.017 11 54 16 0.028 5 1 0 0 0 26.4 13243 chr3 33138549 33138549 G A rs7637099 GLB1 Nonsynonymous SNV P10L 0.664 0.633 0.656 277 779 243 0.71 193 261 77 66 95 Benign 12.82 13244 chr14 55344901 55344901 C T rs28477407 MIR4308 0 0 0.146 0 0 0 0 43 0 0 2 0 6.332 13245 chr12 6777070 6777078 TGCTGCTGC - rs779093712 ZNF384 Q398_Q400del 0.009 0.01 0 2 10 4 0.005 0 1 0 0 0 13246 chr14 55604935 55604935 C A rs4644 LGALS3 Nonsynonymous SNV P64H 0.298 0.294 0.272 130 350 113 0.333 80 60 11 11 20 23.1 13247 chr12 57975211 57975211 G A rs35225609 KIF5A Synonymous SNV R834R 0.017 0.026 0.014 4 20 10 0.01 4 0 0 0 0 Benign/Likely benign 10.95 13248 chr12 6777076 6777078 TGC - ZNF384 Q400del 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 13249 chr3 33174156 33174156 T G rs1135127 CRTAP Synonymous SNV T344T 0.464 0.469 0.541 216 545 180 0.554 159 125 42 48 59 Benign 1.935 13250 chr14 55605036 55605036 A C rs4652 LGALS3 Nonsynonymous SNV T98P 0.368 0.391 0.371 146 432 150 0.374 109 84 21 20 27 1.197 13251 chr3 33174168 33174168 G A rs1135128 CRTAP Synonymous SNV S348S 0.465 0.469 0.541 216 546 180 0.554 159 125 42 48 59 Benign 10.76 13252 chr3 33255592 33255592 A G rs9637517 SUSD5 Nonsynonymous SNV F40L 0.861 0.854 0.884 339 1011 328 0.869 260 435 138 116 149 13.97 13253 chr12 52960884 52960884 C T rs75004274 KRT74 Nonsynonymous SNV A487T 0.047 0.047 0.024 19 55 18 0.049 7 2 0 0 0 0.199 13254 chr12 58005682 58005682 G A rs60586224 ARHGEF25 Nonsynonymous SNV R2Q 0.172 0.188 0.231 84 202 72 0.215 68 24 16 8 14 17.48 13255 chr14 55643908 55643908 A G rs10144326 DLGAP5 Synonymous SNV F307F 0.127 0.148 0.153 38 149 57 0.097 45 6 2 4 1 3.793 13256 chr14 55817708 55817708 T C rs10144418 FBXO34 Synonymous SNV Y200Y 0.311 0.315 0.286 128 365 121 0.328 84 63 13 12 20 0.001 13257 chr2 242758179 242758179 C T rs2293764 NEU4 Synonymous SNV S433S 0.175 0.159 0.204 68 206 61 0.174 60 21 4 7 4 17.7 13258 chr3 33434831 33434831 G A rs2293250 UBP1 Synonymous SNV T466T 0.431 0.422 0.435 159 506 162 0.408 128 107 34 27 34 14.83 13259 chr14 55818517 55818517 T A rs1045002 FBXO34 Nonsynonymous SNV I470N 0.331 0.341 0.313 132 389 131 0.338 92 71 14 14 21 0.002 13260 chr12 58009372 58009372 G A rs2277323 ARHGEF25 Synonymous SNV L342L 0.146 0.154 0.129 45 171 59 0.115 38 13 7 4 2 10.1 13261 chr3 33458266 33458266 T C rs3736563 UBP1 Nonsynonymous SNV N109S 0.268 0.271 0.313 91 315 104 0.233 92 50 10 14 15 7.475 13262 chr14 55818706 55818706 T C rs3742569 FBXO34 Nonsynonymous SNV L533P 0.333 0.341 0.313 132 391 131 0.338 92 72 14 14 21 0.005 13263 chr14 55819219 55819219 G T rs10138395 FBXO34 Nonsynonymous SNV G704V 0.024 0.013 0.02 5 28 5 0.013 6 1 0 0 0 23.8 13264 chr3 35725250 35725250 C T rs969818 ARPP21 Synonymous SNV S68S 0.596 0.622 0.687 229 700 239 0.587 202 204 72 71 64 15.05 13265 chr3 35778773 35778773 A G rs2278757 ARPP21 Synonymous SNV P467P 0.411 0.385 0.388 172 483 148 0.441 114 103 26 24 29 4.837 13266 chr14 57052511 57052511 G T rs3737171 TMEM260 Synonymous SNV T75T 0.438 0.466 0.439 169 514 179 0.433 129 106 40 29 33 4.737 13267 chr12 51457697 51457697 A G rs34413582 CSRNP2 Synonymous SNV D488D 0.037 0.042 0.031 12 43 16 0.031 9 0 1 0 0 3.047 13268 chr14 57092169 57092169 C T rs371601076 TMEM260 Nonsynonymous SNV R490W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 13269 chr12 53343092 53343092 G T KRT18 Synonymous SNV R45R 0.028 0.039 0 9 33 15 0.023 0 0 0 0 0 7.937 13270 chr3 35779750 35779750 A G rs2012153 ARPP21 Synonymous SNV P509P 0.385 0.352 0.378 165 452 135 0.423 111 90 23 26 27 6.068 13271 chr12 53453456 53453456 C T rs34044566 TNS2 Synonymous SNV V687V 0.086 0.089 0.044 26 101 34 0.067 13 6 1 1 0 8.785 13272 chr12 69094607 69094607 A G rs35589976 NUP107 Synonymous SNV T189T 0.009 0.01 0.017 8 11 4 0.021 5 0 0 0 0 4.661 13273 chr3 361493 361493 G A rs142251617 CHL1 Nonsynonymous SNV V12I 0.014 0.008 0.01 8 16 3 0.021 3 0 0 0 0 0.002 13274 chr14 57099859 57099859 G A rs1041316 TMEM260 Nonsynonymous SNV S565N 0.767 0.773 0.748 333 900 297 0.854 220 352 116 85 143 0.01 13275 chr3 36779707 36779707 G A rs3796187 DCLK3 Synonymous SNV L148L 0.402 0.453 0.395 168 472 174 0.431 116 99 41 24 36 5.483 13276 chr12 62696599 62696599 C T rs11174420 USP15 Synonymous SNV H82H 0.319 0.302 0.313 139 375 116 0.356 92 57 20 14 24 13.4 13277 chr12 53457618 53457618 C T rs12816417 TNS2 Synonymous SNV G1404G 0.089 0.089 0.044 26 105 34 0.067 13 6 1 1 0 17.84 13278 chr3 37033261 37033261 G A rs193112350 EPM2AIP1 Synonymous SNV A436A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.783 13279 chr12 58023981 58023981 C A rs715930 B4GALNT1 Synonymous SNV L167L 0.138 0.146 0.133 43 162 56 0.11 39 12 6 5 2 Benign 15.41 13280 chr12 69127245 69127245 C T rs34342902 NUP107 Synonymous SNV H676H 0.008 0.01 0.017 8 9 4 0.021 5 0 0 0 0 16 13281 chr14 57938124 57938124 C T rs1152531 CCDC198 Synonymous SNV R279R 0.777 0.779 0.82 302 912 299 0.774 241 348 115 100 121 15.3 13282 chr3 37053568 37053568 A G rs1799977 MLH1 Nonsynonymous SNV I186V 0.337 0.313 0.35 118 396 120 0.303 103 78 18 19 18 Benign 13.9 13283 chr12 56848079 56848079 C T rs74641138 MIP Nonsynonymous SNV V107I 0.026 0.029 0.014 19 31 11 0.049 4 0 0 0 0 Benign/Likely benign 20.3 13284 chr14 57938260 57938260 T C rs1152530 CCDC198 Nonsynonymous SNV Y234C 0.996 1 0.963 389 1169 384 0.997 283 583 192 141 194 1.91 13285 chr12 58025813 58025813 G C rs774896 B4GALNT1 Nonsynonymous SNV L35V 0.091 0.091 0.153 31 107 35 0.079 45 18 6 6 3 Benign 0.026 13286 chr3 37285152 37285152 C T rs2271548 LOC152048 0.309 0.299 0.391 115 363 115 0.295 115 63 18 23 19 9.621 13287 chr14 57957664 57957664 T A rs1203338 CCDC198 Nonsynonymous SNV K13I 0.997 1 0.99 388 1171 384 0.995 291 584 192 145 193 20.1 13288 chr12 51696500 51696500 G A rs7975715 BIN2 Synonymous SNV D68D 0.116 0.096 0.105 48 136 37 0.123 31 5 3 0 3 0.595 13289 chr14 58605790 58605790 G A rs3829765 ARMH4 Nonsynonymous SNV T96I 0.524 0.563 0.602 221 615 216 0.567 177 159 55 50 61 23.2 13290 chr3 37366459 37366459 C A rs11718848 GOLGA4 Nonsynonymous SNV Q1028K 0.326 0.323 0.395 123 383 124 0.315 116 61 19 23 19 23.9 13291 chr12 6933787 6933787 A G rs1051409 GPR162 Synonymous SNV V241V 0.365 0.359 0.357 162 429 138 0.415 105 90 27 18 30 3.868 13292 chr12 51707626 51707626 C T rs7312857 BIN2 Nonsynonymous SNV S22N 0.116 0.096 0.105 48 136 37 0.123 31 5 3 0 3 11.85 13293 chr12 53516993 53516993 C T rs35335316 SOAT2 Synonymous SNV V455V 0.016 0.016 0.017 10 19 6 0.026 5 0 0 0 0 9.372 13294 chr14 58768333 58768333 C T rs45562837 ARID4A Synonymous SNV T14T 0.108 0.128 0.082 31 127 49 0.079 24 13 4 0 1 16.77 13295 chr3 37368755 37368755 T A rs62241896 GOLGA4 Nonsynonymous SNV M1793K 0.327 0.323 0.391 123 384 124 0.315 115 62 19 23 19 0.003 13296 chr12 6935955 6935955 T C rs35717080 GPR162 Synonymous SNV G167G 0.167 0.193 0.146 58 196 74 0.149 43 12 7 3 2 0.008 13297 chr14 58838668 58838668 A G rs1051860 ARID4A Synonymous SNV S1176S 0.629 0.651 0.697 261 738 250 0.669 205 241 84 72 87 3.367 13298 chr12 51723499 51723499 T C rs17860364 CELA1 Nonsynonymous SNV Q243R 0.11 0.096 0.102 47 129 37 0.121 30 5 3 0 3 12.17 13299 chr12 6954875 6954875 C T rs5443 GNB3 Synonymous SNV S274S 0.376 0.401 0.337 152 441 154 0.39 99 90 31 17 34 drug response 14.28 13300 chr14 58838701 58838701 C T rs1051861 ARID4A Synonymous SNV C1187C 0.629 0.651 0.697 261 738 250 0.669 205 241 84 72 87 4.434 13301 chr3 1424850 1424850 T G rs2291100 CNTN6 Synonymous SNV S693S 0.376 0.391 0.303 132 441 150 0.338 89 89 28 16 22 5.518 13302 chr12 58158558 58158558 C T rs8176345 CYP27B1 Synonymous SNV L314L 0.057 0.057 0.061 25 67 22 0.064 18 1 0 1 0 Likely benign 13.11 13303 chr3 37574951 37574951 G A rs267561 ITGA9 Nonsynonymous SNV G507E 0.476 0.474 0.517 187 559 182 0.479 152 132 47 39 39 Benign 24.3 13304 chr12 53045626 53045626 - GCCGCCTCCAAAGCC rs57149265 KRT2 S100_S101insGFGGG 0.126 0.117 0.109 53 148 45 0.136 32 10 3 4 3 13305 chr14 58917454 58917454 G A rs1748971 KIAA0586 Synonymous SNV S233S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 1.357 13306 chr12 69646914 69646914 G A rs2305641 CPSF6 Synonymous SNV R118R 0.374 0.354 0.323 137 439 136 0.351 95 81 21 15 20 10.23 13307 chr12 51733734 51733734 G A rs17860317 CELA1 Synonymous SNV Y173Y 0.108 0.094 0.112 48 127 36 0.123 33 5 3 0 4 7.787 13308 chr3 3076401 3076401 C T rs6790908 CNTN4 Synonymous SNV N294N 0.462 0.5 0.473 165 542 192 0.423 139 118 53 38 40 12.14 13309 chr14 58937416 58937416 T C rs1748986 KIAA0586 Nonsynonymous SNV L703P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 4.826 13310 chr12 6965194 6965194 A G rs2226955 USP5 Synonymous SNV G106G 0.383 0.411 0.381 154 450 158 0.395 112 94 31 20 34 8.173 13311 chr12 51737607 51737607 G A rs17860299 CELA1 Nonsynonymous SNV R44W 0.109 0.094 0.112 48 128 36 0.123 33 5 3 0 4 22.4 13312 chr3 3076443 3076443 A G rs6803232 CNTN4 Synonymous SNV P308P 0.655 0.698 0.646 237 769 268 0.608 190 251 97 64 75 6.5 13313 chr3 38350479 38350479 T C rs818819 SLC22A14 Synonymous SNV H270H 0.861 0.852 0.837 330 1011 327 0.846 246 438 142 105 140 0.005 13314 chr12 6973088 6973088 C T rs12824102 USP5 Synonymous SNV S683S 0.013 0.018 0.014 2 15 7 0.005 4 0 0 0 0 16.71 13315 chr14 58953746 58953746 C G rs1617510 KIAA0586 Nonsynonymous SNV P916A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.228 13316 chr12 51739648 51739648 C G rs17860287 CELA1 Nonsynonymous SNV Q10H 0.099 0.094 0.105 47 116 36 0.121 31 5 3 0 3 24.2 13317 chr3 38350519 38350519 G A rs818818 SLC22A14 Nonsynonymous SNV V284M 0.862 0.852 0.833 330 1012 327 0.846 245 439 142 104 140 0.001 13318 chr14 59010649 59010649 T C rs28535751 KIAA0586 Nonsynonymous SNV L1515P 0.246 0.323 0.388 110 289 124 0.282 114 73 40 24 21 0.003 13319 chr12 70004035 70004035 A G rs151080979 LRRC10 Nonsynonymous SNV I195T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 24.9 13320 chr3 38350543 38350543 A G rs818817 SLC22A14 Nonsynonymous SNV S292G 0.854 0.844 0.837 324 1003 324 0.831 246 431 139 105 136 0.002 13321 chr3 3139957 3139957 T C rs2290610 IL5RA Nonsynonymous SNV I129V 0.456 0.411 0.446 167 535 158 0.428 131 138 32 29 34 0.001 13322 chr12 59279660 59279660 A T rs11172796 LRIG3 Synonymous SNV R339R 0.067 0.076 0.048 44 79 29 0.113 14 2 0 0 4 1.398 13323 chr14 59105188 59105188 C T rs2003021 DACT1 Synonymous SNV L90L 0.599 0.552 0.636 232 703 212 0.595 187 215 59 63 66 16.21 13324 chr12 64521724 64521724 A G rs61754221 SRGAP1 Nonsynonymous SNV H852R 0.008 0.008 0.003 6 9 3 0.015 1 0 0 0 0 Benign 4.572 13325 chr12 70091432 70091432 T C rs775429 BEST3 Synonymous SNV V49V 0.998 1 0.983 389 1172 384 0.997 289 586 192 143 194 5.613 13326 chr14 59112475 59112475 C T rs863091 DACT1 Synonymous SNV V341V 0.256 0.229 0.265 105 301 88 0.269 78 37 10 9 11 9.961 13327 chr12 70091452 70091452 A G rs1025016 BEST3 Nonsynonymous SNV Y43H 0.065 0.068 0.078 27 76 26 0.069 23 3 0 0 0 26.1 13328 chr3 38355225 38355225 G A rs73064822 SLC22A14 Nonsynonymous SNV V391I 0.144 0.167 0.221 77 169 64 0.197 65 16 6 12 8 0.084 13329 chr14 59112732 59112732 C T rs17832998 DACT1 Nonsynonymous SNV A427V 0.322 0.315 0.384 125 378 121 0.321 113 70 19 24 17 8.732 13330 chr14 59113255 59113255 C T rs529001801 DACT1 Synonymous SNV P601P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.447 13331 chr12 7022085 7022085 T A rs1057077 LRRC23 Nonsynonymous SNV V317E 0.365 0.38 0.34 138 428 146 0.354 100 78 28 13 26 10.41 13332 chr3 38357817 38357817 C T rs2070492 SLC22A14 Nonsynonymous SNV A512V 0.087 0.094 0.153 38 102 36 0.097 45 4 2 9 3 22.9 13333 chr14 59113430 59113430 G A rs698025 DACT1 Nonsynonymous SNV G660S 0.255 0.229 0.262 104 299 88 0.267 77 35 10 9 11 0.632 13334 chr12 6085370 6085370 G A rs55944252 VWF Synonymous SNV C2448C 0.002 0.013 0 8 2 5 0.021 0 0 0 0 0 Likely benign 11.36 13335 chr12 7023123 7023123 A G rs710415 LRRC23 Nonsynonymous SNV E276G 0.363 0.388 0.344 141 426 149 0.362 101 75 28 13 30 2.527 13336 chr3 38357961 38357961 C G rs240033 SLC22A14 Nonsynonymous SNV P560R 0.277 0.294 0.259 111 325 113 0.285 76 50 15 12 15 22.9 13337 chr12 53687113 53687113 C T rs113469395 ESPL1 Nonsynonymous SNV T2073M 0.019 0.023 0.01 6 22 9 0.015 3 0 0 0 1 Likely benign 26.1 13338 chr14 59931840 59931840 G T rs3742645 GPR135 Synonymous SNV S35S 0.289 0.326 0.255 94 339 125 0.241 75 120 47 21 29 14.17 13339 chr12 57135290 57135290 C T rs770474523 PRIM1 Nonsynonymous SNV R304Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 13340 chr3 3886721 3886721 C A rs3749350 LRRN1 Synonymous SNV T132T 0.14 0.138 0.146 74 164 53 0.19 43 11 4 4 8 13.77 13341 chr14 59939727 59939727 T C rs8660 L3HYPDH Nonsynonymous SNV I170V 0.535 0.547 0.524 196 628 210 0.503 154 171 67 41 43 0.001 13342 chr12 70273985 70273985 T G rs7295793 MYRFL Nonsynonymous SNV S157A 0.177 0.185 0.173 72 208 71 0.185 51 21 6 4 5 1.421 13343 chr3 38401839 38401839 T C rs818850 XYLB Synonymous SNV G50G 0.995 0.995 0.99 382 1168 382 0.979 291 581 190 144 187 5.279 13344 chr12 57389376 57389379 TCAC - GPR182 H130Tfs*110 0.001 0 0 0 1 0 0 0 0 0 0 0 13345 chr14 60063472 60063472 A G rs6573275 RTN1 Synonymous SNV H191H 1 0.997 0.997 388 1174 383 0.995 293 587 191 146 193 0.793 13346 chr3 38404472 38404472 C A rs17118 XYLB Nonsynonymous SNV D85E 0.291 0.279 0.35 112 342 107 0.287 103 49 17 18 13 23.5 13347 chr14 60519920 60519920 C T rs95425 LRRC9 Synonymous SNV N1376N 0.796 0.789 0.789 313 934 303 0.803 232 379 118 93 125 4.279 13348 chr3 4358210 4358210 A G rs7647539 SETMAR Synonymous SNV R157R 0.33 0.333 0.357 122 388 128 0.313 105 96 36 24 31 8.989 13349 chr14 60574539 60574539 A G rs12465 PCNX4 Synonymous SNV L61L 0.845 0.844 0.823 329 992 324 0.844 242 420 135 100 137 2.027 13350 chr12 7045892 7045912 CAGCAGCAGCAGCAGCAGCAG - ATN1 Q496_Q502del 0.142 0.151 0.051 52 167 58 0.133 15 8 5 1 1 13351 chr12 57587039 57587039 G A rs113379328 LRP1 Nonsynonymous SNV G2546S 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 Likely benign 27.3 13352 chr12 7045898 7045912 CAGCAGCAGCAGCAG - ATN1 Q498_Q502del 0.014 0.013 0 6 16 5 0.015 0 0 0 0 0 13353 chr14 60581863 60581863 G A rs219314 PCNX4 Synonymous SNV P113P 0.841 0.836 0.813 329 987 321 0.844 239 416 132 98 137 0.666 13354 chr3 38406773 38406773 G T rs704943 XYLB Synonymous SNV L125L 0.92 0.911 0.925 357 1080 350 0.915 272 497 158 125 165 9.146 13355 chr12 7046591 7046591 C T rs181318837 ATN1 Synonymous SNV L721L 0.011 0.018 0.01 3 13 7 0.008 3 0 0 0 0 6.66 13356 chr3 4767262 4767262 T C rs7613447 ITPR1 Synonymous SNV T1708T 0.79 0.831 0.806 316 927 319 0.81 237 366 133 97 133 Benign 0.018 13357 chr14 60581935 60581935 C T rs150687 PCNX4 Synonymous SNV S137S 0.845 0.841 0.82 329 992 323 0.844 241 420 134 99 137 8.801 13358 chr3 38408361 38408361 G A rs843890 XYLB Synonymous SNV T53T 0.92 0.911 0.925 357 1080 350 0.915 272 497 158 125 165 16 13359 chr14 60582053 60582053 G A rs150688 PCNX4 Nonsynonymous SNV V177I 0.803 0.794 0.796 313 943 305 0.803 234 382 119 94 125 5.879 13360 chr3 38519424 38519424 A G rs2070489 ACVR2B Synonymous SNV E111E 0.604 0.565 0.605 235 709 217 0.603 178 218 61 48 67 Benign 8.179 13361 chr12 65141588 65141588 C T rs2230291 GNS Synonymous SNV K121K 0.132 0.148 0.122 67 155 57 0.172 36 17 4 2 5 Benign 10.09 13362 chr12 7066857 7066857 G A rs782528840 PTPN6 Nonsynonymous SNV R372H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.9 13363 chr3 4829732 4829732 A G rs13079522 ITPR1 Synonymous SNV T2176T 0.244 0.268 0.265 113 286 103 0.29 78 26 15 8 17 Benign 0.008 13364 chr14 60923783 60923783 C T rs11625921 C14orf39 Nonsynonymous SNV V404I 0.949 0.958 0.946 377 1114 368 0.967 278 541 179 134 184 0.177 13365 chr3 38524742 38524742 C T rs1046048 ACVR2B Synonymous SNV N486N 0.546 0.513 0.544 209 641 197 0.536 160 180 52 38 52 Benign 12.74 13366 chr14 60932752 60932752 G A rs12586711 C14orf39 Nonsynonymous SNV A306V 0.255 0.268 0.228 101 299 103 0.259 67 39 17 4 8 0.01 13367 chr3 38592406 38592406 A G rs1805126 SCN5A Synonymous SNV D1801D 0.313 0.31 0.357 132 368 119 0.338 105 50 20 18 23 Benign/Likely benign 0.224 13368 chr3 8675539 8675539 G A rs2276800 SSUH2 Nonsynonymous SNV P29L 0.217 0.247 0.224 93 255 95 0.238 66 27 14 9 9 3.549 13369 chr3 38622467 38622467 T C rs7430407 SCN5A Synonymous SNV E1061E 0.907 0.909 0.922 352 1065 349 0.903 271 484 159 126 158 Benign/Likely benign 0.025 13370 chr14 60976537 60976537 C A rs33912345 SIX6 Nonsynonymous SNV H141N 0.52 0.505 0.514 207 610 194 0.531 151 151 50 33 52 Benign 12.61 13371 chr12 70963619 70963619 G A rs2304821 PTPRB Nonsynonymous SNV T849M 0.071 0.065 0.041 41 83 25 0.105 12 3 2 0 3 13.79 13372 chr3 38645420 38645420 T C rs1805124 SCN5A Nonsynonymous SNV H558R 0.226 0.232 0.286 91 265 89 0.233 84 34 7 12 15 Benign/Likely benign 0.01 13373 chr3 8775589 8775589 C T rs1974763 CAV3 Synonymous SNV L9L 0.097 0.102 0.088 46 114 39 0.118 26 5 1 1 2 Benign/Likely benign 17.61 13374 chr3 8787220 8787220 T C rs13087941 CAV3 Synonymous SNV F41F 0.169 0.172 0.153 79 198 66 0.203 45 14 5 2 7 Benign/Likely benign 0.024 13375 chr3 38674712 38674712 T C rs6599230 SCN5A Synonymous SNV A29A 0.773 0.753 0.748 300 908 289 0.769 220 346 108 83 119 Benign/Likely benign 0.015 13376 chr14 61180657 61180657 T G rs3742636 SIX4 Nonsynonymous SNV H605P 0.684 0.693 0.69 277 803 266 0.71 203 269 96 69 93 23.6 13377 chr12 53917079 53917079 T C rs201510652 ATF7, ATF7-NPFF Synonymous SNV K350K 0.014 0.021 0.007 2 16 8 0.005 2 0 0 0 0 1.967 13378 chr12 57596980 57596980 C T rs34436270 LRP1 Synonymous SNV S3576S 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Benign 17.49 13379 chr3 38739574 38739574 T C rs6599241 SCN10A Nonsynonymous SNV M1615V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 4.957 13380 chr14 61445967 61445967 A G rs7142228 TRMT5 Nonsynonymous SNV S245P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.57 13381 chr3 38739845 38739845 A G rs6599242 SCN10A Synonymous SNV S1524S 0.928 0.943 0.969 363 1089 362 0.931 285 502 170 138 168 Benign 0.054 13382 chr12 54367690 54367690 C T rs12427129 HOXC11 Nonsynonymous SNV A222V 0.06 0.029 0.085 22 71 11 0.056 25 7 1 3 3 20.9 13383 chr14 61449328 61449328 T A rs976272 SLC38A6 Nonsynonymous SNV L70M 0.961 0.966 0.969 379 1128 371 0.972 285 541 179 138 184 2.285 13384 chr3 38748833 38748833 T C rs6790627 SCN10A Synonymous SNV K1343K 0.152 0.146 0.177 65 178 56 0.167 52 9 6 2 8 Benign 0.49 13385 chr12 57649840 57649840 C T rs4075325 R3HDM2 Synonymous SNV K823K 0.279 0.286 0.313 125 328 110 0.321 92 45 20 14 19 16.53 13386 chr3 38753732 38753732 A T rs11711062 SCN10A Nonsynonymous SNV S1239T 0.018 0.016 0.02 9 21 6 0.023 6 0 0 0 0 Benign 0.005 13387 chr14 61747644 61747644 A G rs3196765 TMEM30B Synonymous SNV G74G 0.877 0.888 0.878 340 1030 341 0.872 258 455 152 114 149 6.836 13388 chr12 57843711 57843711 G A rs2229357 INHBC Nonsynonymous SNV R322Q 0.118 0.117 0.126 47 138 45 0.121 37 8 3 4 6 24.4 13389 chr12 71523134 71523134 A C rs1051334 TSPAN8 Nonsynonymous SNV S213A 0.445 0.438 0.388 200 522 168 0.513 114 112 37 29 48 10.89 13390 chr12 54379670 54379670 C T rs4564384 HOXC10 Synonymous SNV P209P 0.08 0.068 0.092 35 94 26 0.09 27 7 1 3 3 4.77 13391 chr14 61997226 61997226 C T rs1088680 PRKCH Synonymous SNV N558N 0.909 0.919 0.867 337 1067 353 0.864 255 485 163 112 147 14.89 13392 chr3 38766675 38766675 A G rs6795970 SCN10A Nonsynonymous SNV V975A 0.582 0.51 0.575 198 683 196 0.508 169 197 56 51 49 Benign 0.021 13393 chr12 71533534 71533534 C G rs3763978 TSPAN8 Nonsynonymous SNV G73A 0.44 0.438 0.442 200 517 168 0.513 130 112 37 29 50 23.8 13394 chr14 62037297 62037297 C A rs798792 FLJ22447, LINC01303 0 0 0.952 0 0 0 0 280 0 0 134 0 10.04 13395 chr3 9798773 9798773 C G rs1052133 OGG1 Nonsynonymous SNV S215C 0.214 0.208 0.194 103 251 80 0.264 57 29 7 3 13 3.028 13396 chr12 54448075 54448075 C T rs138201582 HOXC4 Synonymous SNV D123D 0.005 0.01 0.017 2 6 4 0.005 5 0 0 0 0 7.942 13397 chr14 62120575 62120575 C T rs698028 FLJ22447 0 0 0.558 0 0 0 0 164 0 0 48 0 4.656 13398 chr3 38945560 38945560 A G rs4073113 SCN11A Synonymous SNV C546C 0.623 0.62 0.595 253 731 238 0.649 175 231 73 52 82 Benign 0.018 13399 chr14 62120655 62120655 A - rs5809112 FLJ22447 0 0 0.575 0 0 0 0 169 0 0 54 0 13400 chr12 7171620 7171620 C T rs7965055 C1S Synonymous SNV C147C 0.11 0.112 0.065 41 129 43 0.105 19 3 2 0 3 Benign 9.889 13401 chr14 62213848 62213848 T C rs2057482 HIF1A-AS2 0.735 0.75 0.728 290 863 288 0.744 214 353 119 71 116 8.572 13402 chr3 39108503 39108503 G A rs7624734 WDR48 Synonymous SNV L179L 0.348 0.318 0.085 121 409 122 0.31 25 72 16 11 21 18.37 13403 chr12 53298775 53298775 A T rs13098 KRT8 Synonymous SNV P25P 0.112 0.146 0.061 48 132 56 0.123 18 7 7 2 3 0.065 13404 chr14 62462766 62462766 T C rs8019076 SYT16 Nonsynonymous SNV V10A 0.761 0.766 0.735 303 894 294 0.777 216 342 110 78 116 0.011 13405 chr3 39111140 39111140 C A rs2293312 WDR48 Synonymous SNV R111R 0.349 0.318 0.337 120 410 122 0.308 99 73 16 19 20 20.8 13406 chr3 9868730 9868730 C T rs116221350 ARPC4-TTLL3, TTLL3 Synonymous SNV G451G 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 10.43 13407 chr12 7175047 7175047 A G rs1143664 C1S Synonymous SNV P222P 0.105 0.104 0.065 40 123 40 0.103 19 3 2 0 3 Benign 0.005 13408 chr3 39152345 39152345 G A rs1112438 TTC21A Nonsynonymous SNV R91Q 0.29 0.284 0.282 111 341 109 0.285 83 49 14 12 16 20.8 13409 chr12 52825846 52825846 C T rs142963541 KRT75 Nonsynonymous SNV E240K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 13410 chr14 62463129 62463129 G T rs17099370 SYT16 Nonsynonymous SNV R131L 0.17 0.185 0.177 70 200 71 0.179 52 12 9 5 7 3.649 13411 chr14 62463214 62463214 C T rs1889806 SYT16 Synonymous SNV D159D 0.471 0.448 0.401 186 553 172 0.477 118 124 35 23 42 1.633 13412 chr3 39161456 39161456 G A rs1274972 TTC21A Nonsynonymous SNV R241K 0.357 0.352 0.361 132 419 135 0.338 106 74 19 21 24 1.708 13413 chr14 63174616 63174616 T C rs7161127 KCNH5 Synonymous SNV R859R 0.987 0.982 0.98 389 1159 377 0.997 288 572 185 141 194 0.002 13414 chr12 6458350 6458350 A G rs5742912 SCNN1A Nonsynonymous SNV W552R 0.026 0.036 0.051 17 30 14 0.044 15 0 0 0 1 Benign/Likely benign 29.1 13415 chr14 64009521 64009521 A G rs1255720 LOC112268140 0 0 0.143 0 0 0 0 42 0 0 8 0 11.9 13416 chr3 39161464 39161464 G A rs1274971 TTC21A Nonsynonymous SNV E244K 0.358 0.352 0.361 132 420 135 0.338 106 74 19 21 24 18.71 13417 chr14 64447776 64447776 T C rs9944035 SYNE2 Nonsynonymous SNV I574T 0.105 0.102 0.139 46 123 39 0.118 41 14 5 2 5 Benign 14.72 13418 chr12 57911160 57911160 G A rs697221 DDIT3 Synonymous SNV F33F 0.141 0.167 0.17 56 166 64 0.144 50 17 2 3 5 13.03 13419 chr12 7252506 7252506 C T rs34796296 C1RL Nonsynonymous SNV A203T 0.058 0.063 0.048 16 68 24 0.041 14 1 0 0 0 0.077 13420 chr12 55355033 55355033 C T rs997173 TESPA1 Nonsynonymous SNV E287K 0.144 0.156 0.119 52 169 60 0.133 35 15 4 4 4 23.6 13421 chr12 57985204 57985204 C T rs11537654 PIP4K2C Synonymous SNV A44A 0.221 0.229 0.238 103 260 88 0.264 70 22 15 4 9 22 13422 chr3 39178808 39178808 G A rs73070244 TTC21A Nonsynonymous SNV R1086Q 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 23.4 13423 chr12 7343109 7343153 GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA - rs757612863 PEX5 E48_S51del 0.409 0.432 0.061 213 480 166 0.546 18 234 79 9 99 13424 chr14 64491695 64491695 T C rs4902264 SYNE2 Nonsynonymous SNV M1969T 0.841 0.828 0.83 335 987 318 0.859 244 417 133 103 142 Benign 0.187 13425 chr3 39180099 39180099 T C rs784498 TTC21A Synonymous SNV I1242I 0.748 0.768 0.759 293 878 295 0.751 223 328 111 85 109 0.452 13426 chr14 64494278 64494278 C T rs10151127 SYNE2 Synonymous SNV L2161L 0.885 0.875 0.857 345 1039 336 0.885 252 463 149 112 151 Benign 12.38 13427 chr3 10264480 10264480 C G rs3844283 IRAK2 Nonsynonymous SNV L392V 0.394 0.396 0.395 159 462 152 0.408 116 96 27 20 27 24.2 13428 chr3 39180263 39180263 G A rs704959 TTC21A Nonsynonymous SNV R1268K 0.641 0.651 0.636 255 753 250 0.654 187 241 76 61 84 14.44 13429 chr14 64496749 64496749 C T rs4027402 SYNE2 Nonsynonymous SNV A2284V 0.847 0.828 0.844 337 994 318 0.864 248 422 133 105 144 Benign 11.46 13430 chr12 7528471 7528471 G A rs7306824 CD163L1 Synonymous SNV N847N 0.28 0.318 0.32 121 329 122 0.31 94 50 18 19 12 7.127 13431 chr14 64497930 64497930 G A rs4027404 SYNE2 Nonsynonymous SNV S2359N 0.851 0.828 0.844 338 999 318 0.867 248 427 133 105 145 Benign 5.521 13432 chr3 39184959 39184959 C T rs1274958 CSRNP1 Nonsynonymous SNV V473I 0.751 0.768 0.759 298 882 295 0.764 223 331 112 85 112 3.442 13433 chr12 6666422 6666422 G C rs750948336 NOP2 Nonsynonymous SNV Q722E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 13434 chr3 39185077 39185077 G A rs1274957 CSRNP1 Synonymous SNV S433S 0.629 0.641 0.626 254 738 246 0.651 184 234 73 58 84 4.871 13435 chr14 64498037 64498037 G A rs4027405 SYNE2 Nonsynonymous SNV A2395T 0.887 0.891 0.881 343 1041 342 0.879 259 467 154 115 150 Benign 22.9 13436 chr12 75715330 75715330 C A rs10879901 CAPS2 Nonsynonymous SNV L20F 0.234 0.253 0.119 116 275 97 0.297 35 37 17 8 17 22.4 13437 chr12 52961980 52961980 C T rs118113109 KRT74 Nonsynonymous SNV R443H 0.017 0.021 0.003 3 20 8 0.008 1 0 0 0 0 26.3 13438 chr3 39185248 39185248 A G rs784519 CSRNP1 Synonymous SNV S376S 0.873 0.87 0.881 337 1025 334 0.864 259 445 143 114 146 0.008 13439 chr3 10331548 10331548 C T rs146899970 GHRL Synonymous SNV S29S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 17.56 13440 chr14 64519035 64519035 A G rs1890908 SYNE2 Nonsynonymous SNV S2802G 0.916 0.919 0.918 351 1075 353 0.9 270 497 161 123 156 Benign 0.009 13441 chr12 75824893 75824893 G A rs12423750 GLIPR1L2 Synonymous SNV E329E 0.103 0.138 0.058 44 121 53 0.113 17 11 11 3 5 0.29 13442 chr3 39186728 39186728 C T rs784517 CSRNP1 Synonymous SNV R95R 0.565 0.565 0.578 219 663 217 0.562 170 184 56 52 62 14.35 13443 chr12 7585247 7585247 T C rs58195891 CD163L1 Synonymous SNV G187G 0.359 0.404 0.364 160 422 155 0.41 107 76 25 23 24 0.083 13444 chr3 39226127 39226127 C T rs3732383 XIRP1 Nonsynonymous SNV G287R 0.202 0.208 0.194 80 237 80 0.205 57 20 5 6 7 0.441 13445 chr14 64519455 64519455 A G rs3829767 SYNE2 Nonsynonymous SNV I2942V 0.836 0.815 0.827 330 981 313 0.846 243 413 130 101 135 Benign 0.004 13446 chr12 7585971 7585971 A G rs10845159 CD163L1 Synonymous SNV Y148Y 0.539 0.51 0.493 201 633 196 0.515 145 176 47 37 44 6.626 13447 chr3 39227198 39227198 G A rs140483853 XIRP1 Nonsynonymous SNV P1247S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.68 13448 chr12 6562285 6562285 C T rs2041384 TAPBPL Synonymous SNV C39C 0.313 0.333 0.316 115 368 128 0.295 93 58 20 17 15 10.37 13449 chr12 75900382 75900382 C T rs11540407 KRR1 Nonsynonymous SNV R134Q 0.172 0.195 0.054 77 202 75 0.197 16 35 21 4 14 33 13450 chr14 64522674 64522674 G C rs8010911 SYNE2 Nonsynonymous SNV D3253H 0.83 0.805 0.827 329 974 309 0.844 243 412 130 101 135 Benign 24.4 13451 chr3 10379923 10379923 C T rs35678 ATP2B2 Synonymous SNV A1074A 0.401 0.398 0.388 159 471 153 0.408 114 93 33 17 34 14.5 13452 chr12 55615229 55615229 T C rs151030005 OR10A7 Nonsynonymous SNV C141R 0.008 0.018 0.017 2 9 7 0.005 5 0 2 0 0 17.45 13453 chr12 52967342 52967342 C G rs143189278 KRT74 Nonsynonymous SNV G74R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.795 13454 chr12 6562293 6562293 C T rs2041385 TAPBPL Nonsynonymous SNV A42V 0.314 0.333 0.316 115 369 128 0.295 93 58 20 17 15 0.003 13455 chr3 39227664 39227664 G A rs61736155 XIRP1 Synonymous SNV D1091D 0.192 0.198 0.19 77 225 76 0.197 56 18 5 5 7 0.222 13456 chr12 75900588 75900588 A G rs2070162 KRR1 Synonymous SNV L123L 0.288 0.299 0.238 102 338 115 0.262 70 38 21 11 14 9.273 13457 chr14 64522843 64522843 A G rs8010699 SYNE2 Nonsynonymous SNV H3309R 0.836 0.815 0.827 330 982 313 0.846 243 413 130 101 135 Benign 0.567 13458 chr3 39228043 39228043 T G rs11711871 XIRP1 Nonsynonymous SNV H965P 0.193 0.198 0.187 76 226 76 0.195 55 18 5 5 7 0.002 13459 chr12 7637769 7637769 G A rs61729512 CD163 Nonsynonymous SNV T901M 0.135 0.102 0.133 55 159 39 0.141 39 7 1 2 3 15.22 13460 chr14 64637147 64637147 C A rs7161192 SYNE2 Synonymous SNV L5734L 0.278 0.328 0.32 110 326 126 0.282 94 43 22 20 17 Benign 17.34 13461 chr3 10976876 10976876 A G rs2245532 SLC6A11 Synonymous SNV T579T 0.416 0.424 0.364 168 488 163 0.431 107 111 34 21 37 0.002 13462 chr14 64656855 64656855 T C rs2256191 SYNE2 Synonymous SNV L5980L 0.437 0.466 0.439 163 513 179 0.418 129 110 47 30 27 Benign 0.235 13463 chr3 39229900 39229900 T C rs6805248 XIRP1 Nonsynonymous SNV Q346R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.135 13464 chr12 7640589 7640589 C T rs7980201 CD163 Synonymous SNV S505S 0.123 0.089 0.129 46 144 34 0.118 38 6 1 2 2 14.37 13465 chr3 11596302 11596302 T C rs8154 ATG7 Synonymous SNV D619D 0.383 0.378 0.401 155 450 145 0.397 118 78 23 24 29 0.13 13466 chr14 64686125 64686125 G T rs35648226 SYNE2 Synonymous SNV L127L 0.288 0.318 0.313 107 338 122 0.274 92 46 21 19 15 Benign 5.181 13467 chr12 59282702 59282702 T C rs17533647 LRIG3 Synonymous SNV T174T 0.13 0.112 0.099 41 153 43 0.105 29 2 2 2 2 6.309 13468 chr12 6562823 6562823 C T rs2041387 TAPBPL Nonsynonymous SNV A169V 0.339 0.365 0.347 132 398 140 0.338 102 68 24 21 21 14.38 13469 chr3 39307256 39307256 C T rs3732379 CX3CR1 Nonsynonymous SNV V249I 0.284 0.286 0.245 102 334 110 0.262 72 49 14 10 15 no interpretation for the single variant 0.002 13470 chr14 64814311 64814311 C T rs1256112 TEX21P 0 0 0.565 0 0 0 0 166 0 0 53 0 13.22 13471 chr12 53454848 53454848 C G rs375650806 TNS2 Nonsynonymous SNV P1063R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24 13472 chr12 76449900 76449900 T C rs1059143 NAP1L1 Synonymous SNV K94K 0.793 0.771 0.68 306 931 296 0.785 200 377 113 82 120 6.922 13473 chr14 64882380 64882380 A G rs1950902 MTHFD1 Nonsynonymous SNV K134R 0.908 0.93 0.888 351 1066 357 0.9 261 486 166 114 160 Benign 22.9 13474 chr3 11871215 11871215 T C rs11551661 TAMM41 Nonsynonymous SNV I179V 0.067 0.073 0.065 36 79 28 0.092 19 1 0 1 1 0.167 13475 chr12 60173406 60173406 C T rs3763979 SLC16A7 Synonymous SNV N461N 0.147 0.141 0.129 57 173 54 0.146 38 13 5 5 4 8.702 13476 chr12 6562836 6562836 G A rs2041388 TAPBPL Synonymous SNV P173P 0.313 0.333 0.313 115 368 128 0.295 92 58 20 17 15 4.866 13477 chr3 39323163 39323163 A C rs11715522 CX3CR1 Nonsynonymous SNV F8L 0.43 0.474 0.391 172 505 182 0.441 115 123 43 26 35 1.391 13478 chr14 64908845 64908845 G A rs2236225 MTHFD1 Nonsynonymous SNV R653Q 0.453 0.477 0.435 163 532 183 0.418 128 129 40 33 38 Benign 23.1 13479 chr12 6575044 6575044 G T rs2072375 VAMP1 Synonymous SNV A84A 0.344 0.37 0.364 133 404 142 0.341 107 70 25 19 22 8.407 13480 chr12 6094784 6094784 T C rs1053523 VWF Synonymous SNV T2282T 0.13 0.148 0.136 63 153 57 0.162 40 12 4 0 3 Benign/Likely benign 8.791 13481 chr3 39431081 39431081 G A rs2270770 SLC25A38 Synonymous SNV L55L 0.491 0.497 0.483 195 577 191 0.5 142 147 48 36 48 Benign 10.49 13482 chr14 64935720 64935720 C T rs1256149 AKAP5 Nonsynonymous SNV T203I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.013 13483 chr12 6839913 6839913 C T rs2286730 COPS7A Synonymous SNV L239L 0.035 0.039 0.044 14 41 15 0.036 13 1 0 0 0 11.92 13484 chr3 40231883 40231883 C T rs1317317 MYRIP Synonymous SNV L345L 0.922 0.914 0.922 353 1083 351 0.905 271 501 161 124 159 4.495 13485 chr12 6858126 6858126 G A rs2302371 MLF2 Synonymous SNV D194D 0.059 0.034 0.051 22 69 13 0.056 15 1 0 0 0 5.524 13486 chr3 12613866 12613866 T C rs2648307 MKRN2 Synonymous SNV H169H 0.555 0.568 0.524 244 652 218 0.626 154 173 59 40 78 0.639 13487 chr14 65008251 65008251 C T rs1063391 HSPA2 Synonymous SNV D228D 0.632 0.641 0.663 242 742 246 0.621 195 228 79 65 78 7.98 13488 chr3 40251392 40251392 T C rs1799418 MYRIP Synonymous SNV D384D 0.489 0.406 0.452 204 574 156 0.523 133 148 35 36 48 0.029 13489 chr12 77242041 77242041 C T rs11115757 ZDHHC17 Synonymous SNV Y502Y 0.009 0.008 0.003 1 11 3 0.003 1 0 1 0 0 6.795 13490 chr14 65031534 65031534 C T rs6573560 PPP1R36 Nonsynonymous SNV T83I 0.517 0.518 0.517 180 607 199 0.462 152 158 51 44 45 0.107 13491 chr3 12645007 12645007 C T rs2596828 RAF1 Synonymous SNV A207A 0.198 0.195 0.146 86 233 75 0.221 43 24 4 3 8 18.87 13492 chr3 40286017 40286017 T C rs4618168 MYRIP Synonymous SNV S540S 0.468 0.539 0.52 167 549 207 0.428 153 135 58 44 32 7.114 13493 chr12 77244642 77244642 A G rs11115779 ZDHHC17 Synonymous SNV R582R 0.009 0.008 0.003 1 11 3 0.003 1 0 1 0 0 0.003 13494 chr3 40468896 40468896 C T rs1047855 ENTPD3 Nonsynonymous SNV A496V 0.289 0.323 0.344 107 339 124 0.274 101 47 18 17 9 9.154 13495 chr12 53605496 53605496 C T rs61754163 RARG Synonymous SNV G421G 0.057 0.068 0.051 30 67 26 0.077 15 0 3 1 1 7.49 13496 chr14 65032085 65032086 AA - PPP1R36 R95Tfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 13497 chr14 65241228 65241228 A G rs229592 SPTB Synonymous SNV I1620I 0.244 0.279 0.337 95 286 107 0.244 99 33 15 14 9 Benign/Likely benign 7.767 13498 chr14 65242044 65242044 C T rs184528 SPTB Synonymous SNV A1547A 0.234 0.268 0.286 84 275 103 0.215 84 26 15 10 9 Benign/Likely benign 13.21 13499 chr3 40503520 40503520 - CTGCTG rs369485042 RPL14 A159_K160insAA 0.113 0.128 0.027 51 133 49 0.131 8 9 4 3 4 13500 chr14 65245956 65245956 C T rs1741488 SPTB Synonymous SNV V1494V 0.28 0.245 0.282 116 329 94 0.297 83 53 9 11 16 Benign/Likely benign 15.46 13501 chr3 40503520 40503520 - CTGCTGCTGCTGCTG rs369485042 RPL14 A159_K160insAAAAA 0.356 0.344 0.177 138 418 132 0.354 52 83 22 21 28 13502 chr12 66709122 66709122 C T rs117680200 HELB Synonymous SNV N653N 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 14.41 13503 chr3 41288431 41288431 C T rs754890627 ULK4 Nonsynonymous SNV V971I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 13504 chr14 65245962 65245962 A G rs1741487 SPTB Synonymous SNV L1492L 0.28 0.245 0.282 116 329 94 0.297 83 53 9 11 16 Benign/Likely benign 12.52 13505 chr14 65246623 65246623 T C rs1626923 SPTB Synonymous SNV R1431R 0.334 0.313 0.347 139 392 120 0.356 102 74 15 17 24 Benign/Likely benign 6.595 13506 chr3 41841716 41841716 A C rs4973986 ULK4 Nonsynonymous SNV S338A 0.86 0.901 0.844 347 1010 346 0.89 248 437 156 104 156 Benign 11.81 13507 chr14 65253232 65253232 T C rs77806 SPTB Nonsynonymous SNV N1151D 0.315 0.294 0.347 125 370 113 0.321 102 63 14 17 17 Benign/Likely benign 5.701 13508 chr14 65260227 65260227 T G rs229591 SPTB Synonymous SNV I718I 0.442 0.448 0.452 179 519 172 0.459 133 106 38 37 37 Benign/Likely benign 4.717 13509 chr3 41960006 41960006 T C rs1716975 ULK4 Nonsynonymous SNV I224V 0.709 0.74 0.677 266 832 284 0.682 199 302 109 78 92 Benign 0.002 13510 chr12 78334179 78334179 A G rs17817265 NAV3 Synonymous SNV A108A 0.04 0.042 0.037 15 47 16 0.038 11 1 1 0 0 9.864 13511 chr14 65263300 65263300 C T rs229587 SPTB Nonsynonymous SNV S439N 0.409 0.417 0.435 177 480 160 0.454 128 97 31 33 39 Benign/Likely benign 11.6 13512 chr12 78400884 78400884 G A rs34276383 NAV3 Synonymous SNV P522P 0.117 0.115 0.156 45 137 44 0.115 46 6 1 4 1 2.626 13513 chr3 41996136 41996136 T C rs2272007 ULK4 Nonsynonymous SNV K39R 0.725 0.753 0.741 275 851 289 0.705 218 307 108 80 95 Benign 16.52 13514 chr14 65878807 65878807 C T rs1953416 FUT8-AS1 0 0 0.476 0 0 0 0 140 0 0 34 0 17.1 13515 chr12 7894056 7894056 G A rs73056605 CLEC4C Nonsynonymous SNV P66S 0.338 0.331 0.323 136 397 127 0.349 95 63 21 17 25 0.001 13516 chr14 66028446 66028446 A G rs2229677 FUT8 Synonymous SNV Q55Q 0.639 0.615 0.684 259 750 236 0.664 201 232 70 66 87 Benign 3.902 13517 chr12 670595 670595 G A rs36078145 B4GALNT3 Nonsynonymous SNV R992H 0.052 0.052 0.051 14 61 20 0.036 15 4 0 0 0 22.8 13518 chr3 42236415 42236415 A G rs9851455 TRAK1 Synonymous SNV S291S 0.777 0.763 0.793 280 912 293 0.718 233 356 113 92 100 4.025 13519 chr14 67671293 67671293 T C rs17836680 FAM71D Synonymous SNV D133D 0.043 0.036 0.054 15 51 14 0.038 16 2 1 1 0 0.002 13520 chr14 67675021 67675021 C T rs35680137 FAM71D Synonymous SNV L339L 0.03 0.031 0.034 10 35 12 0.026 10 0 1 1 0 11.89 13521 chr3 42244321 42244321 G A rs9311309 TRAK1 Synonymous SNV A533A 0.712 0.716 0.752 252 836 275 0.646 221 300 100 81 83 3.428 13522 chr12 69967862 69967862 G A rs547497 FRS2 Synonymous SNV A218A 0.455 0.503 0.486 179 534 193 0.459 143 115 50 32 39 13.84 13523 chr14 67862269 67862269 G A rs34300264 PLEK2 Nonsynonymous SNV T80M 0.029 0.034 0.034 12 34 13 0.031 10 0 1 1 0 23.5 13524 chr3 42251263 42251263 C T rs2290134 TRAK1 Synonymous SNV S509S 0.548 0.529 0.524 174 643 203 0.446 154 175 55 44 33 16.21 13525 chr14 67878765 67878765 G A rs115017102 PLEK2 Synonymous SNV G4G 0.031 0.031 0.037 13 36 12 0.033 11 0 0 1 0 17.36 13526 chr3 42251578 42251580 GGA - rs753440774 TRAK1 E624del 0.193 0.185 0.092 75 227 71 0.192 27 20 8 8 8 13527 chr12 80014927 80014927 T C rs114414439 PAWR Nonsynonymous SNV I193V 0.01 0.013 0.014 2 12 5 0.005 4 0 0 0 0 7.616 13528 chr12 6787622 6787622 C T rs7964510 ZNF384 Synonymous SNV P119P 0.119 0.12 0.102 46 140 46 0.118 30 15 2 0 1 11.43 13529 chr3 42438783 42438783 G A rs138004276 LYZL4 Nonsynonymous SNV R139W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28.1 13530 chr14 68029313 68029313 G A rs2236235 PLEKHH1 Nonsynonymous SNV R322Q 0.216 0.18 0.204 77 254 69 0.197 60 26 8 5 9 13.97 13531 chr12 68707287 68707287 G A rs2306392 MDM1 Nonsynonymous SNV P272L 0.347 0.32 0.371 125 407 123 0.321 109 77 24 22 13 13.83 13532 chr3 12950831 12950831 G A IQSEC1 Synonymous SNV T840T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.95 13533 chr3 42599091 42599091 G A rs2271184 SEC22C Synonymous SNV H208H 0.12 0.125 0.197 67 141 48 0.172 58 16 8 5 13 11.61 13534 chr14 68035879 68035879 A G rs3825725 PLEKHH1 Nonsynonymous SNV T430A 0.249 0.26 0.224 95 292 100 0.244 66 36 19 7 9 14.67 13535 chr3 12962074 12962074 G A rs35319679 IQSEC1 Nonsynonymous SNV P626S 0.089 0.094 0.119 28 105 36 0.072 35 8 2 3 2 28.2 13536 chr3 42610374 42610374 A G rs2271186 SEC22C Synonymous SNV G55G 0.299 0.359 0.316 143 351 138 0.367 93 47 19 14 29 16.6 13537 chr12 8082367 8082367 T C rs17847967 SLC2A3 Synonymous SNV L258L 0.138 0.172 0.139 53 162 66 0.136 41 14 7 3 1 4.026 13538 chr14 68041061 68041061 G A rs61534804 PLEKHH1 Nonsynonymous SNV G677R 0.078 0.115 0.112 39 92 44 0.1 33 7 2 2 2 23.9 13539 chr3 42610515 42610515 G A rs2271187 SEC22C Synonymous SNV C8C 0.172 0.206 0.187 101 202 79 0.259 55 14 8 5 11 14.11 13540 chr12 68720534 68720534 A G rs117673673 MDM1 Nonsynonymous SNV V134A 0.022 0.018 0.027 14 26 7 0.036 8 0 0 0 0 0.979 13541 chr14 68042574 68042574 A G rs11158685 PLEKHH1 Nonsynonymous SNV H735R 0.515 0.542 0.497 225 605 208 0.577 146 163 55 31 69 0.001 13542 chr3 42700456 42700456 C T rs339724 ZBTB47 Synonymous SNV P203P 0.204 0.227 0.204 110 239 87 0.282 60 21 8 5 14 9.155 13543 chr3 42700630 42700630 A G rs339723 ZBTB47 Synonymous SNV P261P 0.31 0.362 0.313 146 364 139 0.374 92 55 19 14 31 0.002 13544 chr14 68045935 68045935 G A rs6573781 PLEKHH1 Synonymous SNV S978S 0.789 0.799 0.779 308 926 307 0.79 229 371 123 87 123 7.934 13545 chr3 42915878 42915878 C T rs735320 CYP8B1 Synonymous SNV P477P 0.16 0.125 0.17 67 188 48 0.172 50 13 7 9 6 6.002 13546 chr14 68053802 68053802 T C rs734028 PLEKHH1 Synonymous SNV A1315A 0.612 0.615 0.66 222 718 236 0.569 194 212 69 67 68 11.02 13547 chr3 42916105 42916105 C T rs112066175 CYP8B1 Nonsynonymous SNV V402I 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 7.497 13548 chr14 68118132 68118132 C T rs15493 VTI1B Synonymous SNV L223L 0.062 0.089 0.099 36 73 34 0.092 29 2 2 2 1 13.46 13549 chr12 7045892 7045903 CAGCAGCAGCAG - ATN1 Q499_Q502del 0.009 0 0.007 0 10 0 0 2 1 0 0 0 13550 chr12 7045895 7045903 CAGCAGCAG - ATN1 Q500_Q502del 0.002 0 0 0 2 0 0 0 0 0 0 0 13551 chr12 7053304 7053304 A C rs782600196 C12orf57 Nonsynonymous SNV Q7P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.791 13552 chr14 68234533 68234533 C A rs34952009 ZFYVE26 Nonsynonymous SNV S1893I 0.011 0.013 0.003 2 13 5 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.24 13553 chr3 42917047 42917047 A G rs9865715 CYP8B1 Nonsynonymous SNV S88P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.67 13554 chr3 13368892 13368892 G A rs2271509 NUP210 Synonymous SNV C1444C 0.514 0.513 0.493 187 604 197 0.479 145 147 56 41 45 7.532 13555 chr14 68234539 68234539 T C rs3742883 ZFYVE26 Nonsynonymous SNV N1891S 0.984 0.982 0.986 386 1155 377 0.99 290 568 185 143 191 Benign 0.002 13556 chr12 81627238 81627238 C T rs1921038 ACSS3 Synonymous SNV G568G 0.227 0.247 0.214 97 267 95 0.249 63 24 13 4 11 20.3 13557 chr3 42956273 42956273 T C rs1427801 ZNF662 Synonymous SNV I262I 0.974 0.974 0.973 380 1143 374 0.974 286 556 182 139 185 2.496 13558 chr12 53189608 53189608 G A rs200878892 KRT3 Synonymous SNV G73G 0.005 0 0 0 6 0 0 0 0 0 0 0 9.29 13559 chr14 68249499 68249499 C T rs2235967 ZFYVE26 Nonsynonymous SNV C1457Y 0.376 0.365 0.364 160 441 140 0.41 107 87 27 23 27 Benign 13.79 13560 chr12 56487278 56487278 G A rs372171124 ERBB3 Nonsynonymous SNV R475Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.5 13561 chr12 70925864 70925864 C G rs17226367 PTPRB Nonsynonymous SNV G1844A 0.111 0.13 0.085 33 130 50 0.085 25 8 2 2 0 23.8 13562 chr3 43073761 43073761 G A rs658958 GASK1A Synonymous SNV A2A 0.411 0.443 0.401 158 482 170 0.405 118 101 37 23 36 10.95 13563 chr12 56650832 56650832 G A ANKRD52 Synonymous SNV T76T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.699 13564 chr12 8212572 8212572 G A rs11567805 C3AR1 Synonymous SNV L70L 0.003 0.003 0.01 0 3 1 0 3 0 0 1 0 9.47 13565 chr3 43074430 43074430 A G rs2948619 GASK1A Synonymous SNV G225G 0.579 0.604 0.595 234 680 232 0.6 175 195 70 54 76 1.826 13566 chr14 68257352 68257352 T A rs17192170 ZFYVE26 Nonsynonymous SNV T898S 0.078 0.081 0.075 20 91 31 0.051 22 4 1 1 0 Benign 13.08 13567 chr3 43074434 43074434 C T rs2936817 GASK1A Nonsynonymous SNV H227Y 0.411 0.443 0.401 158 482 170 0.405 118 101 37 23 36 2.314 13568 chr12 56547836 56547836 A C rs781324749 MYL6B Nonsynonymous SNV Q45P 0.004 0 0 0 5 0 0 0 0 0 0 0 0.018 13569 chr3 13399786 13399786 G A rs6795271 NUP210 Nonsynonymous SNV A755V 0.329 0.323 0.313 112 386 124 0.287 92 62 25 17 14 6.052 13570 chr14 68264867 68264867 A G rs12891164 ZFYVE26 Synonymous SNV P704P 0.605 0.607 0.612 212 710 233 0.544 180 215 70 57 54 Benign 0.138 13571 chr3 43074871 43074871 A G rs588335 GASK1A Synonymous SNV A372A 0.977 0.982 0.976 382 1147 377 0.979 287 560 185 140 187 4.483 13572 chr12 70048829 70048829 T C rs17106884 BEST3 Nonsynonymous SNV E409G 0.048 0.057 0.071 19 56 22 0.049 21 2 1 0 0 14.32 13573 chr12 56559115 56559115 G T rs780104651 SMARCC2 Synonymous SNV P1042P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.674 13574 chr14 69259662 69259662 C A rs1051533 ZFP36L1 Synonymous SNV T67T 0.266 0.279 0.276 101 312 107 0.259 81 41 16 11 11 19.23 13575 chr12 56628734 56628739 GCTCCG - rs758486491 SLC39A5 A204_P205del 0.003 0 0 0 3 0 0 0 0 0 0 0 13576 chr3 43095101 43095101 A G rs536119 GASK1A Nonsynonymous SNV Q460R 0.58 0.565 0.565 227 681 217 0.582 166 202 57 44 68 2.664 13577 chr14 69352230 69352230 G A rs15993 ACTN1 Synonymous SNV L433L 0.205 0.195 0.207 70 241 75 0.179 61 19 8 4 7 13.34 13578 chr12 56642599 56642599 C T rs201680602 ANKRD52 Nonsynonymous SNV G550S 0.004 0 0 0 5 0 0 0 0 0 0 0 34 13579 chr14 69521345 69521345 G A rs61741172 DCAF5 Synonymous SNV T685T 0.405 0.372 0.374 165 476 143 0.423 110 87 31 22 35 7.992 13580 chr12 70078387 70078387 T C rs11177791 BEST3 Synonymous SNV E55E 0.21 0.193 0.17 93 246 74 0.238 50 22 10 5 6 6.89 13581 chr14 69703158 69703158 A G rs3211166 EXD2 Synonymous SNV L272L 0.239 0.242 0.289 86 281 93 0.221 85 32 12 12 8 6.678 13582 chr3 43097710 43097710 A G rs664628 GASK1A Synonymous SNV L520L 0.373 0.396 0.371 148 438 152 0.379 109 80 26 17 31 0.86 13583 chr12 70088220 70088220 T - rs566733141 BEST3 K59Nfs*20 0.019 0.029 0.014 9 22 11 0.023 4 0 0 0 0 13584 chr14 69704553 69704553 G T rs8007859 EXD2 Nonsynonymous SNV Q393H 0.555 0.578 0.595 217 651 222 0.556 175 173 68 52 59 3.951 13585 chr3 43121559 43121559 C T rs604033 POMGNT2 Synonymous SNV P455P 0.787 0.792 0.776 301 924 304 0.772 228 369 119 89 117 Benign 11.93 13586 chr12 56865338 56865338 A G rs2657879 GLS2 Nonsynonymous SNV L316P 0.242 0.268 0.252 91 284 103 0.233 74 39 14 9 9 7.651 13587 chr12 70273171 70273171 C T rs7970982 MYRFL Synonymous SNV S134S 0.027 0.042 0.034 17 32 16 0.044 10 1 0 1 0 12.86 13588 chr3 43414318 43414318 A G rs6441771 ANO10 Nonsynonymous SNV S607P 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.585 13589 chr14 69799806 69799806 C T rs2274440 GALNT16 Synonymous SNV F261F 0.043 0.055 0.051 16 51 21 0.041 15 0 1 0 1 17.83 13590 chr12 658993 658993 C T rs73592377 B4GALNT3 Synonymous SNV H304H 0.049 0.063 0.054 21 58 24 0.054 16 1 1 0 1 16.25 13591 chr12 86373221 86373221 G C rs17855890 MGAT4C Nonsynonymous SNV T428S 0.123 0.115 0.129 56 144 44 0.144 38 8 1 2 4 0.751 13592 chr3 13545697 13545697 C T rs17038240 HDAC11 Synonymous SNV P172P 0.053 0.044 0.088 11 62 17 0.028 26 1 0 0 0 16.85 13593 chr14 69993467 69993467 A G PLEKHD1 Nonsynonymous SNV Y326C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 13594 chr3 43602803 43602803 C T rs3772165 ANO10 Nonsynonymous SNV R351Q 0.589 0.589 0.548 228 691 226 0.585 161 202 67 41 66 Benign 14.47 13595 chr14 69994626 69994626 G A rs545252455 PLEKHD1 Nonsynonymous SNV R443Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 13596 chr3 44283672 44283672 T C rs9833423 TOPAZ1 Nonsynonymous SNV C43R 0.856 0.865 0.765 327 1005 332 0.838 225 432 144 103 135 0.002 13597 chr12 88471477 88471477 T G CEP290 Nonsynonymous SNV L1861F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.77 13598 chr14 70038786 70038786 A G rs7142060 CCDC177 Synonymous SNV G518G 0.986 0.987 0.98 387 1157 379 0.992 288 570 187 141 192 12.87 13599 chr14 70039587 70039587 C T rs7147881 CCDC177 Synonymous SNV S251S 0.763 0.82 0.827 305 896 315 0.782 243 328 133 99 120 11.7 13600 chr12 7045892 7045900 CAGCAGCAG - rs60216939 ATN1 Q500_Q502del 0.042 0.031 0.014 10 49 12 0.026 4 2 0 0 0 13601 chr12 7047143 7047143 C A rs7969685 ATN1 Synonymous SNV R810R 0.361 0.362 0.384 147 424 139 0.377 113 81 24 20 30 Likely benign 18.77 13602 chr14 70039804 70039809 GCGGCG - rs147747237 CCDC177 A179_A180del 0.335 0.339 0.735 184 393 130 0.472 216 189 63 105 88 13603 chr12 88481632 88481632 T C rs117122459 CEP290 Synonymous SNV K1373K 0.02 0.01 0.01 6 24 4 0.015 3 1 0 0 0 Benign/Likely benign 2.8 13604 chr3 44283808 44283808 C A rs7645375 TOPAZ1 Nonsynonymous SNV P88Q 0.86 0.87 0.874 328 1010 334 0.841 257 433 145 115 136 0.012 13605 chr14 70039881 70039881 C G rs4902734 CCDC177 Nonsynonymous SNV E153D 0.765 0.82 0.799 302 898 315 0.774 235 337 135 97 120 23.8 13606 chr12 7170336 7170336 G A rs12146727 C1S Nonsynonymous SNV R119H 0.138 0.125 0.112 59 162 48 0.151 33 9 2 2 7 25.1 13607 chr12 88500847 88500847 T C rs11104738 CEP290 Nonsynonymous SNV K838E 0.016 0.01 0.01 7 19 4 0.018 3 0 0 0 0 Benign 4.198 13608 chr14 70040223 70040223 A G rs6573892 CCDC177 Synonymous SNV A39A 0.837 0.875 0.888 329 983 336 0.844 261 402 149 115 137 4.371 13609 chr14 70040280 70040280 C G rs117298196 CCDC177 Synonymous SNV G20G 0.032 0.023 0.024 9 38 9 0.023 7 1 1 0 0 7.902 13610 chr3 44284584 44284584 G A rs9284879 TOPAZ1 Nonsynonymous SNV V196I 0.509 0.555 0.517 195 597 213 0.5 152 153 63 40 48 15.04 13611 chr14 70171418 70171418 T C rs2275124 SUSD6 Synonymous SNV F139F 0.072 0.076 0.088 22 85 29 0.056 26 4 0 1 1 4.951 13612 chr14 70418881 70418881 G A rs3742909 SMOC1 Synonymous SNV Q42Q 0.205 0.198 0.177 65 241 76 0.167 52 32 8 3 5 Benign 8.483 13613 chr12 57110442 57110442 G A rs76076193 NACA Synonymous SNV P1624P 0.049 0.026 0.044 17 57 10 0.044 13 3 0 0 0 7.516 13614 chr12 663117 663117 C G rs137867559 B4GALNT3 Synonymous SNV V676V 0.037 0.044 0.044 14 43 17 0.036 13 0 1 0 1 14.69 13615 chr12 70989977 70989977 T C rs11178317 PTPRB Synonymous SNV Q152Q 0.168 0.19 0.153 57 197 73 0.146 45 18 5 4 2 0.045 13616 chr3 44489880 44489880 T C rs11710965 ZNF445 Nonsynonymous SNV Y416C 0.147 0.148 0.153 51 173 57 0.131 45 7 6 4 1 14.86 13617 chr14 70477508 70477508 C T rs3825739 SMOC1 Synonymous SNV A234A 0.138 0.138 0.129 38 162 53 0.097 38 16 2 3 2 Benign 15.35 13618 chr14 70634087 70634087 A G rs2114024 SLC8A3 Synonymous SNV R351R 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.022 13619 chr12 57535266 57535266 C T rs1799986 LRP1 Synonymous SNV D100D 0.155 0.172 0.156 74 182 66 0.19 46 16 3 2 6 Likely pathogenic 15.8 13620 chr3 44540792 44540793 TC - rs36046723 ZNF852 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 13621 chr14 70634801 70634801 T C rs17765575 SLC8A3 Synonymous SNV T113T 0.172 0.174 0.167 70 202 67 0.179 49 15 7 5 5 0.001 13622 chr12 89744773 89744773 A C rs770087 DUSP6 Nonsynonymous SNV S144A 0.175 0.156 0.207 82 205 60 0.21 61 20 8 4 11 23.2 13623 chr3 44541669 44541669 G C rs139385438 ZNF852 Synonymous SNV S200S 0.054 0.052 0.034 23 63 20 0.059 10 2 2 1 0 2.545 13624 chr14 71108942 71108942 G A rs7154268 TTC9 Synonymous SNV P32P 0.099 0.096 0.146 50 116 37 0.128 43 18 5 3 9 13.21 13625 chr12 57579420 57579420 C T rs1800138 LRP1 Synonymous SNV D2190D 0.014 0.01 0.024 0 16 4 0 7 0 0 0 0 Benign 17.58 13626 chr14 71109153 71109153 C G rs4902834 TTC9 Nonsynonymous SNV P103A 0.831 0.857 0.833 317 976 329 0.813 245 409 140 101 131 0.001 13627 chr3 44607013 44607013 T C rs13081859 ZKSCAN7 Nonsynonymous SNV F3S 0.28 0.289 0.316 95 329 111 0.244 93 48 14 20 7 0.745 13628 chr12 89916811 89916811 C T rs2230283 GALNT4, POC1B-GALNT4 Nonsynonymous SNV V506I 0.317 0.341 0.327 128 372 131 0.328 96 53 18 13 18 23.7 13629 chr12 71029733 71029733 C T rs2584021 PTPRB Nonsynonymous SNV D57N 0.1 0.06 0.099 25 117 23 0.064 29 7 1 3 1 20.6 13630 chr14 71199452 71199452 G A rs3829955 MAP3K9 Synonymous SNV N611N 0.247 0.286 0.224 112 290 110 0.287 66 43 15 5 18 7.669 13631 chr3 44611896 44611896 A G rs9835485 ZKSCAN7 Nonsynonymous SNV T281A 0.31 0.313 0.33 101 364 120 0.259 97 56 16 22 8 11.36 13632 chr12 57114869 57114869 T C rs17118953 NACA Nonsynonymous SNV K149E 0.049 0.029 0.051 18 57 11 0.046 15 3 0 0 0 21.1 13633 chr14 71444788 71444788 G A rs3814871 PCNX1 Synonymous SNV R578R 0.44 0.461 0.405 182 516 177 0.467 119 112 37 24 45 8.491 13634 chr12 6659018 6659018 C T rs145586547 IFFO1 Synonymous SNV K325K 0.003 0.003 0 7 3 1 0.018 0 0 0 0 0 17.43 13635 chr14 72055468 72055468 A C rs1859643 SIPA1L1 Synonymous SNV S293S 0.704 0.714 0.68 283 827 274 0.726 200 283 106 66 103 0.003 13636 chr12 73014917 73014917 A G rs7139238 TRHDE Synonymous SNV T788T 0.077 0.091 0.071 32 90 35 0.082 21 4 1 1 0 0.854 13637 chr14 72117156 72117156 T C rs8017465 SIPA1L1 Synonymous SNV F641F 0.819 0.828 0.813 318 961 318 0.815 239 387 133 95 130 0.065 13638 chr3 44612050 44612050 C T rs9873604 ZKSCAN7 Nonsynonymous SNV T332I 0.748 0.776 0.735 278 878 298 0.713 216 326 115 84 103 0.006 13639 chr3 15475982 15475982 C T rs62242154 EAF1 Nonsynonymous SNV P155S 0.011 0.01 0.014 8 13 4 0.021 4 0 0 0 0 10.78 13640 chr14 72945012 72945012 T C rs2302143 RGS6 Synonymous SNV L242L 0.187 0.148 0.211 72 220 57 0.185 62 14 3 6 6 Benign 5.82 13641 chr12 57389753 57389753 C T rs145435829 GPR182 Nonsynonymous SNV R254W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.38 13642 chr14 73029178 73029178 G A rs2074647 RGS6 Nonsynonymous SNV V445I 0.132 0.125 0.126 49 155 48 0.126 37 14 4 1 2 14.61 13643 chr12 66622126 66622126 C T rs35574245 IRAK3 Nonsynonymous SNV S227L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 23.3 13644 chr3 44763037 44763037 A C rs7640654 ZNF502 Nonsynonymous SNV E243A 0.534 0.549 0.483 209 627 211 0.536 142 174 57 38 51 22.5 13645 chr14 73029609 73029609 C T rs17780615 RGS6 Synonymous SNV S615S 0.099 0.089 0.129 35 116 34 0.09 38 14 4 1 3 17.35 13646 chr12 7475081 7475081 C T rs7485773 ACSM4 Stop gain Q357X 0.054 0.065 0.085 35 63 25 0.09 25 3 0 0 1 37 13647 chr3 15495386 15495386 G A rs55866379 COLQ Synonymous SNV D382D 0.049 0.076 0.068 29 57 29 0.074 20 1 1 1 1 Benign/Likely benign 9.503 13648 chr14 73029707 73029707 T C rs8020134 RGS6 Nonsynonymous SNV L648P 0 0 0.092 0 0 0 0 27 0 0 7 0 1.067 13649 chr12 57398105 57398105 C T rs148809946 ZBTB39 Synonymous SNV L199L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.098 13650 chr14 73220020 73220020 A G rs3742836 DPF3 Synonymous SNV L85L 0.313 0.339 0.262 118 367 130 0.303 77 58 20 7 16 8.935 13651 chr3 15499713 15499713 T C rs6782980 COLQ Nonsynonymous SNV S278G 0.022 0.031 0.041 17 26 12 0.044 12 0 0 0 1 Benign/Likely benign 14.32 13652 chr3 44775962 44775962 A G rs4682752 ZNF501 Nonsynonymous SNV M17V 0.63 0.635 0.585 244 740 244 0.626 172 234 78 53 71 12.94 13653 chr14 73358945 73358945 A C rs11158986 DPF3 Nonsynonymous SNV F36C 0.954 0.938 0.942 371 1120 360 0.951 277 536 171 131 176 11.74 13654 chr14 73963383 73963383 T C rs8014577 HEATR4 Synonymous SNV K849K 0.717 0.755 0.687 271 842 290 0.695 202 300 106 75 91 0.392 13655 chr3 15677147 15677147 C T rs147057169 BTD Synonymous SNV N67N 0.005 0.01 0.01 3 6 4 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.42 13656 chr14 73969610 73969610 G A rs11626122 HEATR4 Synonymous SNV H698H 0.21 0.227 0.218 78 246 87 0.2 64 22 7 9 4 7.167 13657 chr3 44776091 44776091 C T rs78023512 ZNF501 Nonsynonymous SNV R60C 0.014 0.023 0 2 17 9 0.005 0 0 1 0 0 25.3 13658 chr12 9013755 9013755 C T rs1860967 A2ML1 Nonsynonymous SNV R631W 0.356 0.339 0.391 124 418 130 0.318 115 68 22 23 18 Benign 24.7 13659 chr14 74058832 74058832 C T rs3742819 ACOT4 Nonsynonymous SNV R57C 0.411 0.466 0.446 178 482 179 0.456 131 101 38 30 39 19.5 13660 chr3 16268974 16268974 T A rs15767 GALNT15 Synonymous SNV R159R 0.416 0.484 0.48 153 488 186 0.392 141 99 48 34 33 2.057 13661 chr3 44871505 44871505 A T rs11710339 KIF15 Nonsynonymous SNV T996S 0.171 0.188 0.187 67 201 72 0.172 55 11 8 5 4 2.081 13662 chr14 74061968 74061968 T C rs2010070 ACOT4 Synonymous SNV I292I 0.769 0.823 0.752 303 903 316 0.777 221 345 130 82 116 0.381 13663 chr3 16268986 16268986 C A rs14576 GALNT15 Synonymous SNV I163I 0.376 0.422 0.418 138 442 162 0.354 123 82 37 27 26 13.03 13664 chr12 75601389 75601389 G A rs61735712 KCNC2 Synonymous SNV C125C 0.081 0.073 0.051 27 95 28 0.069 15 5 0 1 1 9.341 13665 chr14 74083846 74083846 C T rs12891009 ACOT6 Nonsynonymous SNV H204Y 0.44 0.5 0.48 188 517 192 0.482 141 112 45 32 41 7.036 13666 chr12 75601443 75601443 G A rs61932914 KCNC2 Synonymous SNV H107H 0.07 0.07 0.051 27 82 27 0.069 15 4 0 2 1 8.416 13667 chr14 74180134 74180134 C T rs775243331 PNMA1 Nonsynonymous SNV G70D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 13668 chr3 44884647 44884647 C A rs3804583 KIF15 Nonsynonymous SNV L1206M 0.528 0.536 0.49 208 620 206 0.533 144 174 56 38 51 21.1 13669 chr14 74185596 74185596 C T rs9652296 ELMSAN1 Nonsynonymous SNV A1084T 0 0 0.054 0 0 0 0 16 0 0 0 0 10.07 13670 chr14 74196686 74196686 T C rs2075025 ELMSAN1 Synonymous SNV A584A 0.491 0.529 0.493 194 576 203 0.497 145 143 50 39 46 0.007 13671 chr12 670520 670520 C T rs149363012 B4GALNT3 Nonsynonymous SNV A967V 0.014 0.031 0.031 8 16 12 0.021 9 0 0 0 0 29 13672 chr3 44929287 44929287 G C rs2271087 TGM4 Nonsynonymous SNV E100D 0.319 0.349 0.293 140 375 134 0.359 86 68 27 11 23 15.4 13673 chr14 74206481 74206481 T C rs758774 ELMSAN1 Synonymous SNV V77V 0.795 0.81 0.806 300 933 311 0.769 237 374 124 94 115 0.667 13674 chr14 74340797 74340797 A T rs11159042 PTGR2 Synonymous SNV G76G 0.491 0.508 0.551 212 576 195 0.544 162 143 50 42 62 7.968 13675 chr12 7288432 7288432 A G rs7302230 CLSTN3 Nonsynonymous SNV S209G 0.039 0.055 0.061 26 46 21 0.067 18 2 1 1 0 11.93 13676 chr14 74388908 74388908 T C rs1127392 ZNF410 Synonymous SNV D350D 0.369 0.367 0.405 155 433 141 0.397 119 90 26 26 36 11.61 13677 chr3 44943069 44943069 C T rs1995640 TGM4 Synonymous SNV Y237Y 0.441 0.456 0.418 190 518 175 0.487 123 122 41 24 44 6.911 13678 chr14 74404756 74404756 T C rs28927675 FAM161B Nonsynonymous SNV K487R 0.466 0.474 0.507 198 547 182 0.508 149 131 45 37 53 11.75 13679 chr12 57910666 57910666 C T rs112917609 DDIT3 Nonsynonymous SNV E169K 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 29.4 13680 chr3 44943389 44943389 G A rs1995641 TGM4 Nonsynonymous SNV E313K 0.441 0.456 0.418 190 518 175 0.487 123 122 41 24 44 5.105 13681 chr3 16640068 16640068 G C rs61730117 DAZL Nonsynonymous SNV S34C 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 26.6 13682 chr14 74413129 74413129 C G rs7146634 FAM161B Synonymous SNV G78G 0.37 0.362 0.398 151 434 139 0.387 117 90 26 25 34 1.065 13683 chr12 9086898 9086898 A G rs1049925 PHC1 Nonsynonymous SNV T693A 0.43 0.43 0.412 205 505 165 0.526 121 108 38 23 55 0.044 13684 chr14 74424938 74424938 T C rs3180946 COQ6 Synonymous SNV H190H 0.371 0.365 0.395 150 435 140 0.385 116 92 26 25 34 Benign 7.016 13685 chr3 44948479 44948479 C T rs3749195 TGM4 Nonsynonymous SNV R372C 0.491 0.487 0.486 218 577 187 0.559 143 142 48 35 59 23.8 13686 chr3 18055231 18055231 A C rs61978649 LOC339862 0.287 0.271 0.207 104 337 104 0.267 61 43 17 8 16 0.939 13687 chr12 76453966 76453966 G A rs4663 NAP1L1 Synonymous SNV H37H 0.504 0.474 0.459 209 592 182 0.536 135 153 36 33 59 9.678 13688 chr12 57850588 57850588 C T rs760258476 INHBE Nonsynonymous SNV T337M 0.005 0 0 0 6 0 0 0 0 0 0 0 29.4 13689 chr14 74428445 74428445 G A rs8500 COQ6 Nonsynonymous SNV V406M 0.468 0.477 0.503 196 549 183 0.503 148 133 45 37 52 Benign 16.19 13690 chr3 44948590 44948590 G A rs9876921 TGM4 Nonsynonymous SNV V409I 0.49 0.484 0.473 217 575 186 0.556 139 141 48 35 59 0.002 13691 chr3 19574945 19574945 A G rs33915638 KCNH8 Nonsynonymous SNV Q893R 0.08 0.07 0.099 28 94 27 0.072 29 8 2 0 0 11.8 13692 chr14 74441684 74441684 G A rs2074932 ENTPD5 Synonymous SNV L243L 0.581 0.594 0.612 237 682 228 0.608 180 204 67 54 74 11.13 13693 chr12 9142297 9142297 T C rs1805723 KLRG1 Synonymous SNV Y22Y 0.422 0.432 0.401 200 496 166 0.513 118 108 39 22 52 0.006 13694 chr14 74514674 74514674 A T rs3784038 BBOF1 Nonsynonymous SNV D230V 0.495 0.503 0.5 184 581 193 0.472 147 172 50 36 45 14.31 13695 chr12 58009715 58009715 C T rs377228388 ARHGEF25 Synonymous SNV V415V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.8 13696 chr3 45052775 45052775 G C rs6794 EXOSC7 Nonsynonymous SNV V274L 0.557 0.547 0.558 251 654 210 0.644 164 185 59 44 77 0.002 13697 chr12 77235768 77235768 A G rs33996476 ZDHHC17 Nonsynonymous SNV N373S 0.133 0.13 0.048 54 156 50 0.138 14 9 3 2 3 8.242 13698 chr14 74523869 74523869 A G rs3742809 BBOF1 Nonsynonymous SNV K496E 0.188 0.224 0.221 84 221 86 0.215 65 24 7 7 9 9.287 13699 chr3 45077123 45077123 G A rs13963 CLEC3B Nonsynonymous SNV G64S 0.394 0.346 0.398 178 462 133 0.456 117 80 27 24 38 10.13 13700 chr12 69085796 69085796 C T rs563617654 NUP107 Nonsynonymous SNV R89C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 13701 chr12 53454193 53454193 G A rs73099915 TNS2 Synonymous SNV S884S 0.016 0.013 0.01 12 19 5 0.031 3 1 0 0 0 0.103 13702 chr12 92382910 92382910 A T rs76906203 LINC01619 0.01 0.021 0.01 4 12 8 0.01 3 0 0 0 0 3.456 13703 chr14 74523949 74523949 G A rs3742808 BBOF1 Synonymous SNV Q522Q 0.204 0.232 0.235 89 240 89 0.228 69 30 10 7 11 2.886 13704 chr12 77438436 77438436 T C rs2242384 E2F7 Synonymous SNV P323P 0.255 0.258 0.228 133 299 99 0.341 67 31 12 9 17 3.368 13705 chr3 45127515 45127515 T C rs9874077 CDCP1 Nonsynonymous SNV D709G 0.994 0.995 0.986 388 1167 382 0.995 290 580 190 144 193 0.765 13706 chr12 69265694 69265694 C T rs547105880 CPM Nonsynonymous SNV V101I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 13707 chr14 74759006 74759006 C T rs3742801 ABCD4 Nonsynonymous SNV E105K 0.506 0.534 0.551 192 594 205 0.492 162 137 59 48 47 Benign 22.6 13708 chr12 75816814 75816814 - ACA rs144850646 GLIPR1L2 D239_K240insN 0.363 0.359 0.384 141 426 138 0.362 113 70 23 26 25 13709 chr12 9246177 9246181 TATGG - rs1799759 A2M 0.19 0.18 0.218 69 223 69 0.177 64 28 4 9 10 13710 chr3 45134822 45134822 T C rs3749191 CDCP1 Nonsynonymous SNV Q525R 0.668 0.622 0.66 264 784 239 0.677 194 255 76 61 96 0.009 13711 chr14 74759301 74759301 G T rs4148078 ABCD4 Synonymous SNV L64L 0.506 0.534 0.554 192 594 205 0.492 163 137 59 48 47 Benign 7.111 13712 chr14 74759477 74759477 C T rs4148077 ABCD4 Nonsynonymous SNV A41T 0.506 0.534 0.554 193 594 205 0.495 163 137 59 48 48 Benign 17.75 13713 chr3 45153708 45153708 G A rs35501071 CDCP1 Synonymous SNV I174I 0.202 0.172 0.228 94 237 66 0.241 67 20 2 10 13 12.76 13714 chr14 74766352 74766352 A G rs2301345 ABCD4 Synonymous SNV L62L 0.506 0.534 0.544 193 594 205 0.495 160 137 59 47 48 Benign 9.077 13715 chr3 45527218 45527218 T C rs7610357 LARS2 Synonymous SNV L351L 0.936 0.93 0.935 370 1099 357 0.949 275 514 168 129 175 Benign 8.613 13716 chr14 74876181 74876181 T G rs12590672 SYNDIG1L Synonymous SNV T89T 0.457 0.385 0.405 168 536 148 0.431 119 125 29 27 31 6.291 13717 chr14 74876355 74876355 G C rs61734850 SYNDIG1L Nonsynonymous SNV S31R 0.111 0.143 0.061 47 130 55 0.121 18 7 4 2 1 12.95 13718 chr3 45533224 45533224 G A rs2128361 LARS2 Synonymous SNV A485A 0.936 0.93 0.935 370 1099 357 0.949 275 514 168 129 175 Benign 6.014 13719 chr14 75279395 75279395 T A rs2302834 YLPM1 Synonymous SNV P1804P 0.685 0.706 0.667 266 804 271 0.682 196 278 100 66 89 9.74 13720 chr3 20216519 20216519 T A rs61729306 SGO1 Synonymous SNV T168T 0.075 0.096 0.075 23 88 37 0.059 22 5 1 2 1 7.809 13721 chr3 45559519 45559519 T C rs2170549 LARS2 Synonymous SNV A723A 0.997 0.995 0.99 388 1170 382 0.995 291 583 190 144 193 Benign 4.51 13722 chr14 75386576 75386576 G A rs2286913 RPS6KL1 Nonsynonymous SNV P121L 0.39 0.385 0.381 153 458 148 0.392 112 97 28 23 28 12.96 13723 chr3 45565554 45565554 A G rs267220 LARS2 Synonymous SNV V786V 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 Benign 12.27 13724 chr12 78562618 78562618 A G rs383190 NAV3 Synonymous SNV A1651A 0.053 0.06 0.048 30 62 23 0.077 14 1 0 0 0 5.951 13725 chr3 45637253 45637253 C T rs267237 LIMD1 Synonymous SNV T294T 0.472 0.461 0.493 183 554 177 0.469 145 136 45 35 36 5.231 13726 chr14 75388183 75388183 C T rs7156590 RPS6KL1 Nonsynonymous SNV R21Q 0.405 0.396 0.388 154 476 152 0.395 114 103 29 23 29 19.46 13727 chr3 21462880 21462880 A G rs4455340 ZNF385D Synonymous SNV N338N 0.308 0.323 0.306 100 362 124 0.256 90 62 18 13 12 0.002 13728 chr3 45637439 45637439 T C rs267236 LIMD1 Synonymous SNV G356G 0.522 0.503 0.558 199 613 193 0.51 164 166 50 46 45 0.024 13729 chr12 7985318 7985318 C A rs10846018 SLC2A14 Nonsynonymous SNV R5L 0.009 0.005 0.007 2 11 2 0.005 2 1 0 0 0 10.75 13730 chr3 45754685 45754685 A G rs2271619 SACM1L Synonymous SNV P119P 0.089 0.073 0.126 29 104 28 0.074 37 7 3 3 1 9.961 13731 chr14 75483812 75483812 T C rs13712 MLH3 Synonymous SNV Q1421Q 0.516 0.521 0.541 211 606 200 0.541 159 161 53 48 55 Benign 0.095 13732 chr12 56721337 56721337 C A rs534840794 PAN2 Nonsynonymous SNV V244L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.87 13733 chr12 77216281 77216281 G A rs17813975 ZDHHC17 Synonymous SNV P279P 0.109 0.159 0.126 43 128 61 0.11 37 6 4 1 1 11.72 13734 chr3 45779136 45779136 A T rs1468542 SACM1L Nonsynonymous SNV Y373F 0.707 0.701 0.701 279 830 269 0.715 206 294 95 74 97 12.3 13735 chr12 93155535 93155535 G A rs1504907 PLEKHG7 Synonymous SNV T236T 0.81 0.805 0.707 307 951 309 0.787 208 385 124 81 116 10.06 13736 chr14 75513883 75513883 T C rs175081 MLH3 Nonsynonymous SNV N826D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.017 13737 chr3 24164462 24164462 G A rs144206187 THRB Synonymous SNV A402A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 8.211 13738 chr12 77440011 77440011 C G rs61754234 E2F7 Synonymous SNV R212R 0.048 0.055 0.034 20 56 21 0.051 10 0 0 0 1 13.32 13739 chr3 25679738 25679738 T C rs60422476 TOP2B Synonymous SNV V148V 0.231 0.229 0.177 77 271 88 0.197 52 31 14 6 3 7.978 13740 chr3 45817418 45817418 A G rs758386 SLC6A20 Synonymous SNV C139C 0.982 0.987 0.99 387 1153 379 0.992 291 566 187 144 192 Benign 0.01 13741 chr14 75537381 75537381 C T rs11546525 ZC2HC1C Synonymous SNV Y35Y 0.45 0.44 0.466 188 528 169 0.482 137 126 40 36 44 8.633 13742 chr3 45996761 45996761 G A rs1463680 FYCO1 Synonymous SNV L1308L 0.764 0.708 0.81 297 897 272 0.762 238 348 93 97 113 Benign 12.81 13743 chr14 75538217 75538217 G T rs3742778 ZC2HC1C Nonsynonymous SNV G314V 0.484 0.466 0.503 204 568 179 0.523 148 137 44 42 52 8.084 13744 chr12 7046077 7046077 G A rs11547602 ATN1 Synonymous SNV L549L 0.047 0.042 0.102 28 55 16 0.072 30 1 0 1 1 Likely benign 3.207 13745 chr12 80735771 80735771 T C rs10778727 OTOGL Synonymous SNV N1689N 0.617 0.609 0.619 220 724 234 0.564 182 225 75 56 61 Benign 6.486 13746 chr3 46009491 46009491 C T rs3796376 FYCO1 Synonymous SNV L445L 0.217 0.219 0.221 70 255 84 0.179 65 37 9 9 5 Benign 1.362 13747 chr14 75574087 75574087 C T rs10146482 NEK9 Nonsynonymous SNV R429H 0.482 0.464 0.5 202 566 178 0.518 147 136 44 41 51 18.7 13748 chr3 46010077 46010077 C T rs4683158 FYCO1 Nonsynonymous SNV R250Q 0.821 0.768 0.85 317 964 295 0.813 250 397 113 107 129 Benign 24.1 13749 chr12 93196422 93196422 T G rs10745623 EEA1 Nonsynonymous SNV K810Q 0.739 0.76 0.534 269 868 292 0.69 157 324 109 68 97 0.001 13750 chr12 80747209 80747209 C G rs7312569 OTOGL Nonsynonymous SNV L1829V 0.23 0.206 0.231 96 270 79 0.246 68 28 11 6 10 Benign 3.452 13751 chr14 75590822 75590822 G A rs8017642 NEK9 Synonymous SNV H108H 0.483 0.469 0.503 203 567 180 0.521 148 138 44 42 52 8.516 13752 chr3 27436600 27436600 G A rs146857770 SLC4A7 Nonsynonymous SNV H776Y 0.01 0.013 0.007 6 12 5 0.015 2 0 0 0 0 9.699 13753 chr14 75746690 75746690 C T rs1046117 FOS Synonymous SNV S84S 0.698 0.685 0.755 279 819 263 0.715 222 295 92 82 97 15.98 13754 chr3 46021218 46021218 G T rs4682801 FYCO1 Synonymous SNV R89R 0.821 0.768 0.84 317 964 295 0.813 247 397 113 105 129 Benign 8.215 13755 chr12 53925573 53925573 C T rs139241958 ATF7, ATF7-NPFF Synonymous SNV Q239Q 0.014 0.023 0.031 8 17 9 0.021 9 0 0 0 0 5.99 13756 chr14 75904660 75904660 A G rs3625 JDP2 Nonsynonymous SNV T13A 0.477 0.542 0.483 200 560 208 0.513 142 130 54 38 50 1.446 13757 chr3 46480958 46480958 C G rs2073495 LTF Nonsynonymous SNV E535D 0.424 0.362 0.425 142 498 139 0.364 125 101 24 26 26 0.004 13758 chr12 80750659 80750659 G A rs11836060 OTOGL Nonsynonymous SNV R1986Q 0.224 0.195 0.228 95 263 75 0.244 67 26 9 6 9 Benign 23.3 13759 chr12 7842932 7842932 C T rs12819884 GDF3 Nonsynonymous SNV G213R 0.288 0.323 0.286 127 338 124 0.326 84 51 16 12 17 8.732 13760 chr14 75904817 75904817 A T rs773908410 JDP2 Nonsynonymous SNV K65I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 13761 chr3 46487937 46487937 C T rs61739313 LTF Nonsynonymous SNV V407M 0.026 0.023 0.02 4 31 9 0.01 6 0 0 0 0 Benign 15.36 13762 chr12 80752660 80752660 A G rs2034528 OTOGL Nonsynonymous SNV I2074V 0.908 0.917 0.84 345 1066 352 0.885 247 490 163 116 153 Benign 0.46 13763 chr12 57396585 57396585 G A rs116414697 ZBTB39 Nonsynonymous SNV A706V 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 23.5 13764 chr14 76156609 76156609 C T rs2303345 TTLL5 Nonsynonymous SNV A149V 0.61 0.656 0.571 215 716 252 0.551 168 222 78 51 56 Benign 21.2 13765 chr3 46501284 46501284 - CTT rs10662431 LTF R23_S24insR 0.985 0.992 0.99 385 1156 381 0.987 291 569 189 144 190 13766 chr12 94132186 94132186 T A rs6538450 CRADD Nonsynonymous SNV I102N 0.083 0.094 0.068 31 98 36 0.079 20 2 4 0 4 4.709 13767 chr3 46580591 46580591 G T rs17078944 LRRC2 Nonsynonymous SNV A145E 0.328 0.359 0.361 120 385 138 0.308 106 68 26 21 21 8.676 13768 chr12 80761411 80761411 G T rs11114416 OTOGL Nonsynonymous SNV L2125F 0.223 0.195 0.146 95 262 75 0.244 43 26 9 6 9 Benign 3.698 13769 chr14 76957887 76957887 T C rs2361293 ESRRB Synonymous SNV Y295Y 1 1 0.986 389 1174 384 0.997 290 587 192 144 194 Benign 0.011 13770 chr14 77236380 77236380 C T rs3815550 VASH1 Synonymous SNV Y128Y 0.649 0.586 0.616 263 762 225 0.674 181 257 73 56 91 11.26 13771 chr12 57577637 57577637 C T rs138993371 LRP1 Synonymous SNV D1958D 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 Benign 17.74 13772 chr14 77297656 77297656 G A rs142627436 LRRC74A Nonsynonymous SNV V110M 0.007 0.005 0.017 2 8 2 0.005 5 0 0 0 0 0.191 13773 chr12 80761430 80761430 G A rs1551118 OTOGL Nonsynonymous SNV A2132T 0.848 0.813 0.816 317 996 312 0.813 240 424 126 105 129 Benign 10.83 13774 chr3 46586622 46586622 T C rs17286758 LRRC2 Nonsynonymous SNV T83A 0.082 0.081 0.078 37 96 31 0.095 23 4 1 2 1 0.001 13775 chr3 31725316 31725316 G A rs2278959 OSBPL10 Synonymous SNV H448H 0.297 0.281 0.303 121 349 108 0.31 89 57 13 13 15 0.025 13776 chr12 94769758 94769758 A G rs4761611 CEP83 Synonymous SNV R204R 0.561 0.531 0.289 224 659 204 0.574 85 193 58 36 66 2.974 13777 chr12 94772742 94772742 C T rs2271979 CEP83 Nonsynonymous SNV R134Q 0.08 0.052 0.088 25 94 20 0.064 26 4 1 3 2 22.4 13778 chr14 77332367 77332367 C T rs1882844 LRRC74A Synonymous SNV P436P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.53 13779 chr12 80761465 80761465 G A rs2717482 OTOGL Synonymous SNV T2143T 0.912 0.917 0.908 344 1071 352 0.882 267 490 161 123 152 Benign 15.13 13780 chr3 31789582 31789582 T C rs2290532 OSBPL10 Nonsynonymous SNV N190D 0.348 0.372 0.347 156 409 143 0.4 102 74 23 15 35 12.09 13781 chr3 46592987 46592987 A G rs28687398 LRRC2 Nonsynonymous SNV V32A 0.08 0.073 0.095 39 94 28 0.1 28 4 0 2 1 0.097 13782 chr14 77332408 77332408 T C rs7160583 LRRC74A Nonsynonymous SNV V450A 0.349 0.344 0.371 133 410 132 0.341 109 71 24 20 20 0.001 13783 chr12 80765800 80765800 A G rs1551122 OTOGL Nonsynonymous SNV N2237S 0.62 0.615 0.612 218 728 236 0.559 180 227 77 53 61 Benign 23.9 13784 chr3 32181761 32181761 C T rs9835387 GPD1L Synonymous SNV D136D 0.145 0.128 0.146 60 170 49 0.154 43 12 1 4 6 Benign 14.23 13785 chr3 46620614 46620614 T C rs11130097 TDGF1 Nonsynonymous SNV V6A 0.577 0.589 0.626 231 677 226 0.592 184 201 67 61 66 0.002 13786 chr14 77697967 77697967 A G rs375566 TMEM63C Synonymous SNV A129A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.157 13787 chr3 32578505 32578505 T C rs2303857 DYNC1LI1 Nonsynonymous SNV Q161R 0.069 0.049 0.109 37 81 19 0.095 32 2 0 2 1 18.69 13788 chr14 77703057 77703057 A G rs403291 TMEM63C Synonymous SNV A211A 0.669 0.719 0.677 289 785 276 0.741 199 256 100 65 105 0.137 13789 chr14 77745193 77745193 A C rs3209079 POMT2 Synonymous SNV L637L 0.807 0.794 0.837 317 948 305 0.813 246 383 118 99 129 Benign 1.685 13790 chr12 71946889 71946889 A C rs143772937 LGR5 Synonymous SNV P155P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 13791 chr3 46620760 46620760 T G rs2293025 TDGF1 Nonsynonymous SNV Y27D 0.052 0.047 0.068 19 61 18 0.049 20 1 0 2 1 0.114 13792 chr12 57590899 57590899 G A rs1020315370 LRP1 Synonymous SNV E3009E 0 0.005 0 0 0 2 0 0 0 0 0 0 11.21 13793 chr14 77751925 77751925 C T rs2270419 POMT2 Synonymous SNV R461R 0.806 0.797 0.833 319 946 306 0.818 245 383 119 99 130 Benign 16.95 13794 chr12 80888978 80888978 C T rs140978858 PTPRQ Synonymous SNV S398S 0.009 0.018 0.003 5 11 7 0.013 1 0 0 0 0 Benign 10.87 13795 chr3 46620801 46620801 G A rs2293024 TDGF1 Synonymous SNV E40E 0.052 0.047 0.068 19 61 18 0.049 20 1 0 2 1 4.782 13796 chr14 77793207 77793207 G A rs7975 GSTZ1 Nonsynonymous SNV E33K 0.273 0.281 0.32 117 320 108 0.3 94 49 15 14 18 24.7 13797 chr3 46658737 46658737 A G rs9832679 FAM240A Nonsynonymous SNV H27R 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 8.726 13798 chr12 72307616 72307616 A G rs3759171 TBC1D15 Synonymous SNV Q437Q 0.227 0.234 0.306 102 266 90 0.262 90 24 7 18 14 0.075 13799 chr12 95531442 95531442 T C rs11829776 FGD6 Synonymous SNV Q950Q 0.153 0.154 0.17 68 180 59 0.174 50 15 5 8 5 0.853 13800 chr14 77794283 77794283 T C rs1046428 GSTZ1 Nonsynonymous SNV M83T 0.773 0.786 0.83 304 908 302 0.779 244 351 119 100 118 10.54 13801 chr3 46713457 46713457 C G rs7625303 ALS2CL Synonymous SNV T867T 0.287 0.279 0.286 103 337 107 0.264 84 47 12 13 16 8.032 13802 chr12 95602672 95602672 C T rs2306884 FGD6 Synonymous SNV P796P 0.117 0.112 0.16 58 137 43 0.149 47 10 3 7 5 16.89 13803 chr3 46729757 46729757 C G rs7642448 ALS2CL Nonsynonymous SNV E45Q 0.395 0.393 0.395 141 464 151 0.362 116 91 29 25 26 20.4 13804 chr12 57626582 57626582 G A rs2229716 SHMT2 Synonymous SNV A261A 0.042 0.052 0.058 10 49 20 0.026 17 1 0 0 0 8.625 13805 chr14 77843814 77843814 T C rs11844594 SAMD15 Nonsynonymous SNV L18P 0.566 0.521 0.486 208 665 200 0.533 143 191 53 35 56 0.729 13806 chr12 95602913 95602913 C G rs757831180 FGD6 Nonsynonymous SNV G716A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 4.626 13807 chr3 46751074 46751076 AAG - rs10578999 TMIE K78del 0.708 0.711 0.656 265 831 273 0.679 193 297 98 61 92 13808 chr14 77843971 77843971 C T rs45540040 SAMD15 Synonymous SNV D70D 0.236 0.224 0.18 92 277 86 0.236 53 29 12 4 10 3.586 13809 chr12 95660182 95660182 A G rs17855933 VEZT Nonsynonymous SNV T14A 0.131 0.109 0.071 31 154 42 0.079 21 10 1 3 1 2.236 13810 chr3 47018214 47018214 T C rs936181 CCDC12 Synonymous SNV A3A 0.999 1 0.99 388 1173 384 0.995 291 586 192 144 193 0.021 13811 chr14 77844265 77844265 G A rs45527334 SAMD15 Nonsynonymous SNV M168I 0.236 0.224 0.18 92 277 86 0.236 53 29 12 4 10 6.936 13812 chr3 47036756 47036756 C G rs11720139 NBEAL2 Nonsynonymous SNV R477G 0.445 0.469 0.442 185 523 180 0.474 130 122 42 33 39 Benign 14.01 13813 chr12 95927762 95927762 T C rs3812813 USP44 Nonsynonymous SNV T91A 0.527 0.578 0.486 206 619 222 0.528 143 175 62 29 48 1.28 13814 chr14 77844592 77844592 T A rs10133824 SAMD15 Synonymous SNV G277G 0.236 0.216 0.18 92 277 83 0.236 53 29 12 4 10 3.26 13815 chr3 47043622 47043622 G A rs2305635 NBEAL2 Synonymous SNV V1631V 0.445 0.471 0.442 185 522 181 0.474 130 121 42 33 39 Benign 6.572 13816 chr14 77844869 77844869 A G rs4903576 SAMD15 Nonsynonymous SNV K370E 0.567 0.521 0.473 209 666 200 0.536 139 191 53 35 57 0.004 13817 chr3 33585009 33585009 G A rs187113660 CLASP2 Nonsynonymous SNV T895I 0.009 0.013 0.01 6 11 5 0.015 3 0 0 0 0 25 13818 chr12 75687039 75687039 C T rs117753158 CAPS2 Nonsynonymous SNV D267N 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 14.99 13819 chr3 47449058 47449058 T C rs900688 PTPN23 Synonymous SNV T203T 0.999 1 0.99 388 1173 384 0.995 291 586 192 144 193 0.409 13820 chr12 96260947 96260947 A G rs7960706 CCDC38 Synonymous SNV F533F 0.244 0.263 0.344 113 286 101 0.29 101 51 15 18 27 0.136 13821 chr14 77845121 77845121 A G rs2193595 SAMD15 Nonsynonymous SNV K454E 0.566 0.521 0.483 208 665 200 0.533 142 191 53 35 56 0.002 13822 chr3 47452087 47452087 G A rs900689 PTPN23 Synonymous SNV P807P 0.999 1 0.99 388 1173 384 0.995 291 586 192 144 193 3.868 13823 chr3 33877626 33877626 G A rs3792594 PDCD6IP Nonsynonymous SNV A314T 0.282 0.273 0.303 106 331 105 0.272 89 42 21 14 13 12.66 13824 chr14 77880305 77880305 C T rs10130481 NOXRED1 Synonymous SNV R107R 0.21 0.198 0.177 85 247 76 0.218 52 22 10 4 8 14.97 13825 chr3 47452118 47452118 G A rs6780013 PTPN23 Nonsynonymous SNV A818T 0.453 0.474 0.429 187 532 182 0.479 126 126 43 34 40 0.02 13826 chr12 8278195 8278195 G A rs117213717 CLEC4A Nonsynonymous SNV G41R 0.01 0.01 0 4 12 4 0.01 0 0 0 0 0 15.42 13827 chr14 77926011 77926011 C T rs1061629 AHSA1 Synonymous SNV L45L 0.417 0.458 0.497 178 489 176 0.456 146 106 40 35 42 13.83 13828 chr12 64746833 64746833 C T rs73118352 C12orf56 Nonsynonymous SNV D86N 0.136 0.141 0.088 56 160 54 0.144 26 12 4 0 4 23.2 13829 chr14 77928525 77928525 A G rs1061638 AHSA1 Synonymous SNV Q98Q 0.609 0.688 0.687 253 715 264 0.649 202 210 90 69 84 7.124 13830 chr12 57867907 57867907 G A rs61754174 ARHGAP9 Synonymous SNV T301T 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 15.47 13831 chr3 33905566 33905566 C T rs1127732 PDCD6IP Nonsynonymous SNV S735L 0.15 0.143 0.187 48 176 55 0.123 55 12 5 9 4 23.8 13832 chr3 47454399 47454399 G A rs6789730 PTPN23 Synonymous SNV P1419P 0.994 0.995 0.854 389 1167 382 0.997 251 583 191 125 194 10.23 13833 chr12 96337225 96337225 C T rs1436121 AMDHD1 Synonymous SNV L17L 0.133 0.156 0.116 61 156 60 0.156 34 18 8 5 8 11.74 13834 chr14 77935520 77935520 G A rs7250 AHSA1 Synonymous SNV T180T 0.413 0.456 0.497 175 485 175 0.449 146 102 38 35 40 12.61 13835 chr3 47462200 47462200 T C rs900690 SCAP Synonymous SNV G214G 0.999 1 0.973 388 1173 384 0.995 286 586 192 142 193 0.064 13836 chr12 96346594 96346594 T C rs1982138 AMDHD1 Synonymous SNV I79I 0.171 0.182 0.184 67 201 70 0.172 54 20 8 6 7 6.67 13837 chr3 33907945 33907945 A G rs3183987 PDCD6IP Synonymous SNV P850P 0.282 0.273 0.303 106 331 105 0.272 89 42 20 14 13 3.823 13838 chr12 75884254 75884254 C T rs28932170 GLIPR1 Synonymous SNV D163D 0.1 0.094 0.085 25 117 36 0.064 25 6 1 2 0 9.278 13839 chr3 47462429 47462429 G A rs543331808 SCAP Nonsynonymous SNV R191W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 13840 chr14 77951124 77951124 C T rs3742728 ISM2 Nonsynonymous SNV A94T 0.601 0.615 0.639 253 706 236 0.649 188 214 71 60 78 21 13841 chr14 78028803 78028803 A G rs2364602 SPTLC2 Synonymous SNV N262N 0.954 0.932 0.966 368 1120 358 0.944 284 533 166 138 173 Benign 5.319 13842 chr12 65269047 65269047 G A rs939875 TBC1D30 Nonsynonymous SNV V565I 0.021 0.029 0.048 6 25 11 0.015 14 1 0 1 0 0.002 13843 chr3 47956424 47956424 C T rs1137524 MAP4 Nonsynonymous SNV V628I 0.308 0.302 0.34 115 362 116 0.295 100 51 10 15 18 6.444 13844 chr12 96380975 96380975 A G rs11108364 HAL Synonymous SNV N99N 0.101 0.12 0.082 34 118 46 0.087 24 5 4 3 0 Benign 4.919 13845 chr14 78174473 78174473 A C rs11159286 SLIRP Synonymous SNV R7R 0.968 0.974 0.952 378 1136 374 0.969 280 550 183 133 183 0.496 13846 chr14 78184566 78184566 C A rs176960 SNW1 Nonsynonymous SNV C519F 0.833 0.826 0.854 304 978 317 0.779 251 408 132 108 117 12.71 13847 chr3 47958037 47958037 G T rs1060407 MAP4 Nonsynonymous SNV S427Y 0.303 0.299 0.337 112 356 115 0.287 99 50 10 15 18 23.2 13848 chr3 36422216 36422216 T C rs73052248 STAC Synonymous SNV S27S 0.227 0.258 0.235 102 266 99 0.262 69 34 17 7 13 9.675 13849 chr3 36897812 36897812 T C rs11712950 TRANK1 Nonsynonymous SNV E1090G 0.249 0.276 0.279 89 292 106 0.228 82 38 13 9 13 4.221 13850 chr12 85449465 85449465 T A rs7974418 LRRIQ1 Synonymous SNV V298V 0.549 0.555 0.065 226 644 213 0.579 19 173 57 9 61 0.414 13851 chr14 78197467 78197467 A C rs61742193 SNW1 Synonymous SNV R299R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 2.899 13852 chr12 96676330 96676330 C A rs35751611 CDK17 Synonymous SNV V471V 0.077 0.065 0.061 27 90 25 0.069 18 4 1 0 0 15.73 13853 chr3 48422235 48422235 T A rs6784322 FBXW12 Nonsynonymous SNV V203D 0.444 0.422 0.378 169 521 162 0.433 111 121 29 22 36 0.037 13854 chr14 78374292 78374292 C T rs17106595 ADCK1 Synonymous SNV A296A 0.192 0.172 0.228 62 225 66 0.159 67 14 6 4 5 11.51 13855 chr12 8608730 8608730 A C rs118084065 CLEC6A Nonsynonymous SNV Q8P 0.022 0.021 0.007 9 26 8 0.023 2 0 0 0 0 9.991 13856 chr12 96883418 96883418 C T rs3809197 CFAP54 Nonsynonymous SNV P11S 0.026 0.034 0.024 9 30 13 0.023 7 1 0 1 0 6.391 13857 chr14 78710044 78710044 G A rs11626446 NRXN3 Nonsynonymous SNV G203D 0.302 0.339 0.316 97 355 130 0.249 93 41 21 20 13 Benign 6.409 13858 chr3 36931411 36931411 G A rs79355931 TRANK1 Synonymous SNV P228P 0.049 0.052 0.034 12 58 20 0.031 10 1 0 1 0 14.5 13859 chr3 48461313 48461313 C G rs2362450 PLXNB1 Synonymous SNV P794P 0.448 0.432 0.395 176 526 166 0.451 116 133 31 23 41 12.12 13860 chr14 79181226 79181226 C T rs1004212 NRXN3 Synonymous SNV T223T 0.177 0.198 0.248 79 208 76 0.203 73 22 5 9 7 15 13861 chr3 36940741 36940741 G T rs9864910 TRANK1 Synonymous SNV R54R 0.22 0.247 0.259 77 258 95 0.197 76 34 13 7 13 14.01 13862 chr12 96927972 96927972 A G rs2160501 CFAP54 Nonsynonymous SNV T558A 0.411 0.417 0.435 189 482 160 0.485 128 99 36 33 50 0.008 13863 chr3 48474249 48474249 A G rs2279077 CCDC51 Synonymous SNV L269L 0.447 0.424 0.378 169 525 163 0.433 111 122 28 22 36 1.083 13864 chr14 81251255 81251255 T C rs327463 CEP128 Nonsynonymous SNV H732R 0.435 0.401 0.405 144 511 154 0.369 119 114 31 27 25 18.39 13865 chr3 37458758 37458758 A C rs113724034 C3orf35 Star tloss M1? 0.043 0.055 0.034 18 50 21 0.046 10 0 0 0 0 10.26 13866 chr3 48476431 48476431 C G rs13062723 CCDC51 Synonymous SNV L36L 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 11.81 13867 chr12 96927986 96927986 A T rs2160502 CFAP54 Nonsynonymous SNV L562F 0.406 0.406 0.412 188 477 156 0.482 121 99 36 32 50 0.037 13868 chr12 8814695 8814695 C T rs4132450 MFAP5 Synonymous SNV S2S 0.006 0 0 3 7 0 0.008 0 0 0 0 0 Benign/Likely benign 15.98 13869 chr14 81382845 81382845 C A rs7160694 CEP128 Nonsynonymous SNV R16L 0.052 0.047 0.112 21 61 18 0.054 33 3 0 3 1 15.11 13870 chr3 48508585 48508585 C T rs11797 TREX1 Synonymous SNV Y167Y 0.428 0.411 0.354 165 503 158 0.423 104 112 26 18 34 Benign 8.107 13871 chr12 85466723 85466723 G A rs17012533 LRRIQ1 Nonsynonymous SNV A912T 0.284 0.266 0.282 131 333 102 0.336 83 58 17 12 19 0.146 13872 chr3 48581045 48581045 G A rs140464894 PFKFB4 Nonsynonymous SNV R116W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 13873 chr14 81574959 81574959 A G rs3783942 TSHR Synonymous SNV L232L 0.69 0.599 0.66 246 810 230 0.631 194 282 74 61 80 5.097 13874 chr14 81575005 81575005 C A rs3783941 TSHR Nonsynonymous SNV R248S 0.664 0.576 0.656 234 780 221 0.6 193 281 73 61 80 not provided 3.453 13875 chr3 48625266 48625266 T C rs1264194 COL7A1 Synonymous SNV P939P 0.637 0.638 0.643 239 748 245 0.613 189 240 84 61 74 Benign 0.012 13876 chr12 97045481 97045481 C T rs74447642 CFAP54 Nonsynonymous SNV T1663I 0.161 0.146 0.167 67 189 56 0.172 49 12 5 4 7 7.509 13877 chr14 81610583 81610583 G C rs1991517 TSHR Nonsynonymous SNV E727D 0.925 0.924 0.895 349 1086 355 0.895 263 501 163 116 155 Benign/Likely benign 0.003 13878 chr3 48677895 48677895 A T rs1264195 CELSR3 Synonymous SNV A3041A 0.087 0.078 0.054 32 102 30 0.082 16 7 1 0 3 0.046 13879 chr12 8667897 8667897 A G rs4304840 CLEC4D Nonsynonymous SNV S32G 0.297 0.279 0.313 112 349 107 0.287 92 52 16 13 17 Benign 0.004 13880 chr3 48727112 48727112 G A rs4858798 IP6K2 Synonymous SNV Y213Y 0.568 0.531 0.592 222 667 204 0.569 174 186 56 53 55 9.646 13881 chr14 81737076 81737076 A C rs2241621 STON2 Nonsynonymous SNV S851A 0.655 0.641 0.578 247 769 246 0.633 170 246 83 46 83 23 13882 chr12 88589107 88589107 G A rs111307435 TMTC3 Nonsynonymous SNV R578H 0.012 0.013 0.003 4 14 5 0.01 1 0 0 0 0 32 13883 chr3 48956257 48956257 A G rs150858838 ARIH2OS 0.071 0.073 0.031 23 83 28 0.059 9 3 2 0 1 1.406 13884 chr12 97073412 97073412 C T rs371840661 CFAP54 Synonymous SNV P1866P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.1 13885 chr12 97098549 97098549 T C rs11108643 CFAP54 Nonsynonymous SNV L2168P 0.688 0.711 0.408 275 808 273 0.705 120 310 107 46 107 10.77 13886 chr14 81744736 81744736 A G rs3813535 STON2 Nonsynonymous SNV S307P 0.871 0.878 0.857 338 1022 337 0.867 252 442 150 106 147 6.782 13887 chr3 49054692 49054692 T C rs3087866 DALRD3 Nonsynonymous SNV Q299R 0.699 0.711 0.748 264 821 273 0.677 220 283 97 82 86 2.011 13888 chr14 86088056 86088056 T C rs10141266 FLRT2 Synonymous SNV T66T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.845 13889 chr3 38390056 38390056 G C rs146134427 XYLB Nonsynonymous SNV V25L 0.024 0.031 0.003 12 28 12 0.031 1 0 0 0 0 5.78 13890 chr3 49200627 49200627 A G rs4955418 CCDC71 Nonsynonymous SNV W339R 0.542 0.534 0.544 225 636 205 0.577 160 174 53 43 60 0.1 13891 chr14 86089315 86089315 G A rs17646457 FLRT2 Nonsynonymous SNV R486Q 0.103 0.083 0.109 48 121 32 0.123 32 3 2 3 2 15.54 13892 chr12 971291 971291 C T rs2286007 WNK1 Nonsynonymous SNV T665I 0.108 0.128 0.078 46 127 49 0.118 23 7 3 0 2 Benign 24.8 13893 chr12 7973851 7973851 G A rs771821320 SLC2A14 Nonsynonymous SNV A226V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.467 13894 chr3 49200692 49200692 T A rs4955419 CCDC71 Nonsynonymous SNV Q317L 0.542 0.534 0.541 224 636 205 0.574 159 174 53 43 59 0.001 13895 chr12 8975901 8975901 C T rs17792974 A2ML1 Synonymous SNV T62T 0.058 0.06 0.075 23 68 23 0.059 22 2 0 0 0 Benign 16.05 13896 chr14 88401213 88401213 T C rs421262 GALC Nonsynonymous SNV T618A 0.998 1 0.997 385 1172 384 0.987 293 585 192 146 190 Benign 0.001 13897 chr3 49273996 49273996 C T rs12631989 CCDC36 Synonymous SNV S24S 0.538 0.526 0.531 224 632 202 0.574 156 176 52 42 60 7.49 13898 chr14 88407875 88407875 T A rs421466 GALC Synonymous SNV V543V 0.997 1 0.997 385 1171 384 0.987 293 584 192 146 190 Benign 11.28 13899 chr3 49395674 49395679 GCCGCC - rs17838762 GPX1 A12_A13del 0.368 0.385 0.259 161 432 148 0.413 76 86 29 20 32 13900 chr14 88411947 88411947 T C rs367327 GALC Synonymous SNV T517T 0.998 1 0.997 385 1172 384 0.987 293 585 192 146 190 Benign 0.195 13901 chr12 66704274 66704274 G - rs199672632 HELB E522Dfs*5 0.032 0.044 0.054 21 38 17 0.054 16 2 0 0 0 13902 chr3 49548008 49548008 C G rs2131107 DAG1 Nonsynonymous SNV S14W 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 14.9 13903 chr14 88431898 88431898 C T rs12888666 GALC Synonymous SNV Q305Q 0.43 0.419 0.388 168 505 161 0.431 114 113 29 21 41 Benign 15.47 13904 chr12 66704276 66704276 A C rs141956990 HELB Nonsynonymous SNV Q523P 0.032 0.044 0.054 21 38 17 0.054 16 2 0 0 0 21 13905 chr14 88477413 88477413 C T rs6574978 GPR65 Synonymous SNV T74T 0.751 0.779 0.748 300 882 299 0.769 220 333 115 83 115 0.808 13906 chr3 49690199 49690199 G A rs4855885 BSN Synonymous SNV T1070T 0.777 0.815 0.759 297 912 313 0.762 223 359 125 85 110 2.775 13907 chr14 88652389 88652389 C T rs3742692 KCNK10 Synonymous SNV A369A 0.262 0.323 0.276 120 308 124 0.308 81 35 21 12 23 13.33 13908 chr12 89919568 89919568 C T rs10777184 POC1B-AS1 0.26 0.208 0.014 75 305 80 0.192 4 42 8 2 6 7.991 13909 chr3 49701298 49701298 G A rs2005557 BSN Nonsynonymous SNV A3863T 0.492 0.526 0.469 202 578 202 0.518 138 157 54 34 53 11.52 13910 chr14 88693725 88693725 G C rs2277524 KCNK10 Synonymous SNV V220V 0.242 0.294 0.214 95 284 113 0.244 63 32 14 7 13 5.914 13911 chr12 8995756 8995756 A G rs7308106 A2ML1 Synonymous SNV V425V 0.096 0.086 0.129 40 113 33 0.103 38 4 3 2 1 Benign 2.83 13912 chr12 974308 974308 - C rs141823469 WNK1 Frameshift insertion I726Hfs*45 0.388 0.427 0.415 129 455 164 0.331 122 89 31 23 17 13913 chr14 88852166 88852166 G A rs4904448 SPATA7 Nonsynonymous SNV D2N 0.46 0.477 0.408 190 540 183 0.487 120 120 38 24 45 Benign 22.8 13914 chr12 80750598 80750598 T C rs73139245 OTOGL Synonymous SNV L1966L 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign/Likely benign 4.975 13915 chr12 9750669 9750669 A G rs1135816 KLRB1 Nonsynonymous SNV I168T 0.434 0.414 0.371 177 510 159 0.454 109 108 30 27 44 24.7 13916 chr3 49738945 49738945 C T rs6804655 RNF123 Synonymous SNV V433V 0.25 0.271 0.224 102 294 104 0.262 66 43 15 7 13 13.9 13917 chr14 89884022 89884022 A C rs7422 FOXN3-AS1 0 0 0.503 0 0 0 0 148 0 0 39 0 8.275 13918 chr3 49751585 49751585 C T rs2291542 RNF123 Synonymous SNV D996D 0.25 0.271 0.241 103 294 104 0.264 71 43 15 7 13 14.39 13919 chr3 49760039 49760039 T C rs1466685 GMPPB Nonsynonymous SNV Q184R 0.998 1 0.997 388 1172 384 0.995 293 585 192 146 193 6.799 13920 chr14 90730071 90730071 C T rs4811 PSMC1 Synonymous SNV I115I 0.658 0.74 0.697 255 773 284 0.654 205 256 101 74 79 14.35 13921 chr3 38743571 38743571 G A rs144944369 SCN10A Synonymous SNV I1374I 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 Benign/Likely benign 14.54 13922 chr14 90745422 90745422 T C rs3737035 NRDE2 Nonsynonymous SNV N1118S 0.338 0.26 0.299 130 397 100 0.333 88 67 9 14 17 0.003 13923 chr3 49836707 49836707 G A rs7629936 CDHR4 Synonymous SNV A71A 0.222 0.224 0.207 92 261 86 0.236 61 33 9 7 10 9.64 13924 chr12 9833524 9833524 C G rs3764022 CLEC2D Nonsynonymous SNV L23V 0.358 0.357 0.306 157 420 137 0.403 90 82 20 20 34 0.055 13925 chr12 56415288 56415288 C T rs753270648 IKZF4 Nonsynonymous SNV P4L 0.003 0 0 0 3 0 0 0 0 0 0 0 20.2 13926 chr3 38936134 38936134 C T rs33985936 SCN11A Nonsynonymous SNV V909I 0.24 0.198 0.231 73 282 76 0.187 68 37 9 8 3 Benign 0.23 13927 chr14 90767607 90767607 C T rs3825661 NRDE2 Synonymous SNV V507V 0.615 0.544 0.622 231 722 209 0.592 183 233 53 56 70 9.092 13928 chr3 49898273 49898273 A G rs2681781 CAMKV Synonymous SNV N217N 0.489 0.438 0.483 197 574 168 0.505 142 141 35 33 54 0.488 13929 chr14 91084338 91084338 C T rs754247 TTC7B Synonymous SNV E601E 0.273 0.255 0.241 108 320 98 0.277 71 37 9 9 15 10.79 13930 chr12 9833628 9833628 C T rs3764021 CLEC2D Synonymous SNV S57S 0.526 0.495 0.503 209 617 190 0.536 148 164 54 41 57 2.279 13931 chr3 49899795 49899795 G A rs3796386 CAMKV Synonymous SNV G9G 0.444 0.396 0.422 175 521 152 0.449 124 119 26 26 46 9.059 13932 chr14 91123575 91123575 T C rs3742660 TTC7B Synonymous SNV P428P 0.854 0.859 0.847 332 1003 330 0.851 249 427 140 103 142 0.066 13933 chr3 49924940 49924940 T C rs1062633 MST1R Nonsynonymous SNV R1229G 0.49 0.438 0.493 197 575 168 0.505 145 137 34 33 52 0.005 13934 chr14 91161862 91161862 C T rs10146731 TTC7B Synonymous SNV T253T 0.61 0.596 0.616 229 716 229 0.587 181 221 66 54 65 10.8 13935 chr12 9885707 9885707 - TAAGT rs113222621 CLECL1 Frameshift insertion S52Tfs*26 0.559 0.542 0.571 227 656 208 0.582 168 186 62 48 61 13936 chr12 91449984 91449984 C T rs12320366 KERA Synonymous SNV Q25Q 0.146 0.156 0.156 61 171 60 0.156 46 12 4 5 7 2.64 13937 chr14 91165572 91165572 G A rs1749699 LOC105370622 0.861 0.849 0.878 340 1011 326 0.872 258 435 137 111 149 9.917 13938 chr3 49928691 49928691 T C rs7433231 MST1R Nonsynonymous SNV S1089G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.994 13939 chr14 91165606 91165606 G A rs1742100 LOC105370622 0.624 0.622 0.687 268 732 239 0.687 202 227 77 65 95 6.311 13940 chr12 64173807 64173807 G A rs61935924 RXYLT1 Nonsynonymous SNV A23T 0.084 0.102 0.129 37 99 39 0.095 38 8 3 4 1 Benign 26.7 13941 chr12 56737251 56737251 C A rs2229363 STAT2 Nonsynonymous SNV Q826H 0.011 0.003 0.017 1 13 1 0.003 5 0 0 0 0 Benign 13.38 13942 chr12 6884613 6884613 G A rs148559293 LAG3 Nonsynonymous SNV R319Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.385 13943 chr14 91636532 91636532 C T rs4900072 DGLUCY, DGLUCY Nonsynonymous SNV A148V 0.298 0.286 0.279 97 350 110 0.249 82 57 17 14 11 0.082 13944 chr3 49936102 49936102 T C rs2230590 MST1R Nonsynonymous SNV Q417R 0.49 0.438 0.493 197 575 168 0.505 145 136 34 33 52 0.001 13945 chr12 9232268 9232268 T C rs669 A2M Nonsynonymous SNV I850V 0.287 0.268 0.272 107 337 103 0.274 80 48 10 11 14 Benign, risk factor 0.343 13946 chr14 91739081 91739081 A G rs941920 CCDC88C Nonsynonymous SNV L1992P 0.863 0.88 0.816 331 1013 338 0.849 240 437 149 100 139 Benign 0.115 13947 chr12 80899901 80899901 C A rs11114486 PTPRQ Nonsynonymous SNV Q619K 0.586 0.659 0.527 220 688 253 0.564 155 207 89 42 65 12.74 13948 chr3 49939850 49939850 A G rs199980524 MST1R Nonsynonymous SNV L398P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 13949 chr12 69090684 69090684 A G rs35054844 NUP107 Synonymous SNV E149E 0.023 0.029 0.02 5 27 11 0.013 6 0 0 0 1 5.483 13950 chr14 91744349 91744349 G T rs150512553 CCDC88C Synonymous SNV R1659R 0.064 0.065 0.054 23 75 25 0.059 16 1 3 1 0 Benign 10.18 13951 chr12 80900397 80900397 C G rs12824064 PTPRQ Synonymous SNV L663L 0.589 0.659 0.548 223 691 253 0.572 161 208 89 42 66 10.87 13952 chr12 99640428 99640428 T C rs3751323 ANKS1B Synonymous SNV S657S 0.348 0.354 0.344 129 409 136 0.331 101 69 25 12 18 0.575 13953 chr3 49949071 49949071 A G rs868891 MON1A Synonymous SNV P264P 0.443 0.391 0.429 174 520 150 0.446 126 115 25 26 43 2.584 13954 chr12 6924109 6924109 C T rs11575099 CD4 Synonymous SNV V186V 0.033 0.044 0.02 13 39 17 0.033 6 2 0 0 0 8.299 13955 chr14 91760522 91760522 C T rs12891713 CCDC88C Synonymous SNV Q1369Q 0.099 0.076 0.102 43 116 29 0.11 30 9 1 4 2 Benign 14.22 13956 chr12 9303296 9303296 A T rs10842971 PZP Nonsynonymous SNV I1443N 0.24 0.232 0.269 97 282 89 0.249 79 28 6 9 11 24.6 13957 chr14 91773568 91773568 T C rs1970912 CCDC88C Synonymous SNV L1003L 0.503 0.56 0.476 190 591 215 0.487 140 148 67 38 46 Benign 5.834 13958 chr3 50114515 50114515 C T rs7061 RBM6 Synonymous SNV Y585Y 0.552 0.609 0.571 217 648 234 0.556 168 184 67 47 66 2.548 13959 chr12 9098995 9098995 - AAC rs149871778 M6PR M1_F2insL 0.124 0.143 0.129 37 145 55 0.095 38 10 5 2 1 13960 chr12 82763298 82763298 A G rs4882541 METTL25 Nonsynonymous SNV H21R 0.256 0.344 0 108 300 132 0.277 0 149 66 0 53 0.395 13961 chr14 91948043 91948043 T C rs17127374 PPP4R3A Synonymous SNV T264T 0.169 0.161 0.184 85 198 62 0.218 54 16 6 6 11 0.675 13962 chr12 998365 998365 G T rs12828016 WNK1 Nonsynonymous SNV M1561I 0.442 0.469 0.463 179 519 180 0.459 136 124 41 34 40 Benign 12.42 13963 chr3 50144951 50144951 T C rs1061474 RBM5 Synonymous SNV A330A 0.555 0.609 0.578 217 652 234 0.556 170 186 67 47 66 10.58 13964 chr14 92084004 92084004 C G rs1620238 CATSPERB Synonymous SNV V779V 0.773 0.75 0.707 288 907 288 0.738 208 356 108 78 105 0.249 13965 chr3 50153356 50153356 T C rs1138536 RBM5 Synonymous SNV Y679Y 0.555 0.609 0.578 216 651 234 0.554 170 185 67 47 65 2.154 13966 chr14 92088016 92088016 G A rs1296082 CATSPERB Synonymous SNV I732I 0.771 0.75 0.724 287 905 288 0.736 213 354 108 79 104 9.537 13967 chr3 50197097 50197097 C T rs1046953 SEMA3F Synonymous SNV T14T 0.447 0.461 0.398 158 525 177 0.405 117 118 38 24 31 16.61 13968 chr12 6935977 6935977 A G rs11612427 GPR162 Nonsynonymous SNV R175G 0.353 0.346 0.34 137 414 133 0.351 100 64 28 17 17 19.55 13969 chr14 92268615 92268615 T G rs2402073 TC2N Nonsynonymous SNV K151T 0.979 0.987 0.929 383 1149 379 0.982 273 563 187 136 188 0.015 13970 chr12 93139348 93139348 A G rs17790310 PLEKHG7 Nonsynonymous SNV D99G 0.055 0.049 0.037 13 64 19 0.033 11 2 1 0 0 32 13971 chr3 50222926 50222926 T A rs1046956 SEMA3F Nonsynonymous SNV L404M 0.684 0.664 0.602 276 803 255 0.708 177 280 79 50 93 6.012 13972 chr14 92343894 92343894 G A rs145515678 FBLN5 Synonymous SNV Y374Y 0.028 0.047 0.044 7 33 18 0.018 13 0 0 0 1 Likely benign 5.086 13973 chr12 6933223 6933223 C T rs11575110 GPR162 Synonymous SNV C53C 0.058 0.07 0.031 22 68 27 0.056 9 2 0 0 2 7.14 13974 chr13 100622668 100622670 GGC - rs71114653 ZIC5 P424del 0.158 0.102 0.167 52 186 39 0.133 49 25 4 5 6 13975 chr3 50251833 50251833 - G rs397812056 SLC38A3 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13976 chr14 92347680 92347680 A G rs2430347 FBLN5 Synonymous SNV I315I 0.672 0.682 0.704 263 789 262 0.674 207 267 91 75 95 Benign 7.632 13977 chr3 50329826 50329826 A G rs1076872 IFRD2 Synonymous SNV R24R 0.677 0.719 0.724 260 795 276 0.667 213 277 102 82 87 2.333 13978 chr14 92505915 92505915 T A rs17127898 TRIP11 Nonsynonymous SNV M39L 0.07 0.073 0.099 24 82 28 0.062 29 3 1 2 2 Benign/Likely benign 0.088 13979 chr12 85421750 85421750 C A TSPAN19 Nonsynonymous SNV G64V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 13980 chr3 39188182 39188182 C T rs13084580 CSRNP1 Nonsynonymous SNV G18S 0.121 0.102 0.102 42 142 39 0.108 30 7 1 4 1 13.17 13981 chr3 50332697 50332697 G A rs13100173 HYAL3 Nonsynonymous SNV H113Y 0.46 0.487 0.541 164 540 187 0.421 159 132 49 43 34 8.401 13982 chr12 85438499 85438499 G A rs3765044 LRRIQ1 Nonsynonymous SNV C83Y 0.24 0.221 0.238 112 282 85 0.287 70 56 17 12 18 0.001 13983 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTG rs763541221 ATXN3 A22_G23insAAAAAAAAA 0.291 0.294 0.201 116 342 113 0.297 59 43 14 19 16 13984 chr14 92792255 92792255 G A rs941646 SLC24A4 Synonymous SNV T58T 0.992 0.997 0.993 388 1165 383 0.995 292 578 191 145 193 12.27 13985 chr13 101287404 101287404 G A rs2297943 TMTC4 Synonymous SNV P286P 0.301 0.299 0.33 134 353 115 0.344 97 54 18 20 28 11.47 13986 chr3 50357869 50357869 A C rs709210 HYAL2 Nonsynonymous SNV S18A 0.655 0.667 0.704 244 769 256 0.626 207 258 85 76 74 0.008 13987 chr14 92909073 92909073 T C rs941650 SLC24A4 Synonymous SNV H165H 0.813 0.82 0.782 314 955 315 0.805 230 385 130 91 124 0.686 13988 chr14 92920371 92920371 C T rs7144273 SLC24A4 Synonymous SNV P336P 0.434 0.43 0.463 167 509 165 0.428 136 118 35 35 34 15.37 13989 chr3 50597092 50597092 G A rs1034405 C3orf18 Nonsynonymous SNV A162V 0.916 0.935 0.912 350 1075 359 0.897 268 495 169 121 156 33 13990 chr14 92958522 92958522 A C rs45587635 SLC24A4 Nonsynonymous SNV K552Q 0.073 0.076 0.041 36 86 29 0.092 12 1 0 1 1 16.18 13991 chr13 101881777 101881777 G A rs3916906 NALCN Synonymous SNV V502V 0.302 0.279 0.296 134 355 107 0.344 87 55 15 10 21 Benign 9.395 13992 chr3 39373902 39373902 C G rs2853699 CCR8 Nonsynonymous SNV A27G 0.292 0.276 0.245 108 343 106 0.277 72 57 12 9 17 0.064 13993 chr12 70004259 70004259 G A rs145823585 LRRC10 Synonymous SNV L120L 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 Benign 2.072 13994 chr3 50609624 50609624 T G rs2232248 HEMK1 Synonymous SNV P133P 0.906 0.909 0.878 345 1064 349 0.885 258 486 159 112 150 8.917 13995 chr14 93118038 93118038 A G rs3829947 RIN3 Nonsynonymous SNV H140R 0.601 0.599 0.595 229 705 230 0.587 175 205 68 47 62 3.995 13996 chr3 51458279 51458279 A G rs112510197 DCAF1 Synonymous SNV P580P 0.023 0.013 0.024 6 27 5 0.015 7 1 0 0 0 0.338 13997 chr3 39453160 39453160 G A rs2269350 RPSA Synonymous SNV L178L 0.306 0.284 0.316 121 359 109 0.31 93 53 15 13 20 Benign 12 13998 chr13 102231711 102231711 C T rs34438356 ITGBL1 Synonymous SNV C79C 0.01 0.008 0.003 3 12 3 0.008 1 0 0 0 0 15.66 13999 chr3 51812952 51812952 C T rs11130296 IQCF6 Nonsynonymous SNV R4Q 0.224 0.232 0.272 94 263 89 0.241 80 31 8 10 12 24 14000 chr14 93118669 93118669 G A rs3742716 RIN3 Synonymous SNV T350T 0.241 0.245 0.286 102 283 94 0.262 84 30 11 9 9 8.664 14001 chr13 102946198 102946198 T A rs9585886 FGF14-IT1 0.198 0.224 0 78 232 86 0.2 0 60 23 0 19 17.09 14002 chr13 103275386 103275386 T C rs2230854 TPP2 Synonymous SNV S260S 0.463 0.406 0.435 176 543 156 0.451 128 116 32 30 38 1.919 14003 chr14 93154532 93154534 GGT - rs535272965 RIN3 G897del 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 14004 chr14 93154538 93154540 GGC - rs570458246 RIN3 G897del 0.595 0.607 0.527 249 699 233 0.638 155 199 65 45 75 14005 chr3 51907736 51907736 A G rs7635409 IQCF5-AS1 0.821 0.833 0.864 325 964 320 0.833 254 391 133 107 133 0.71 14006 chr13 103328660 103328660 A G rs2230856 TPP2 Synonymous SNV A1185A 0.061 0.089 0.095 28 72 34 0.072 28 2 3 3 4 9.861 14007 chr12 9321501 9321501 C T rs3213832 PZP Nonsynonymous SNV V691M 0.087 0.068 0.116 25 102 26 0.064 34 6 1 2 0 0.233 14008 chr14 93170993 93170993 C T rs9791 LGMN Synonymous SNV P360P 0.413 0.411 0.381 158 485 158 0.405 112 103 33 21 34 15.78 14009 chr3 51908226 51908226 T C rs1505403 IQCF5-AS1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.326 14010 chr13 103339365 103339365 A G rs660207 METTL21C Synonymous SNV L109L 0.47 0.414 0.442 181 552 159 0.464 130 119 31 32 40 0.776 14011 chr14 93178191 93178191 A G rs1951708 LGMN Synonymous SNV D240D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.186 14012 chr3 51978220 51978220 A G rs28547534 PARP3 Nonsynonymous SNV H107R 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 0.003 14013 chr12 88380094 88380094 T C rs10777084 C12orf50 Nonsynonymous SNV Q267R 0.101 0.099 0.139 28 118 38 0.072 41 14 4 6 1 0.001 14014 chr14 93199080 93199080 C T rs2236264 LGMN Nonsynonymous SNV V18I 0.178 0.208 0.163 73 209 80 0.187 48 22 10 5 9 0.032 14015 chr12 93258665 93258665 A G rs17194451 EEA1 Synonymous SNV H72H 0.196 0.177 0.136 78 230 68 0.2 40 29 6 5 11 0.024 14016 chr12 94673277 94673277 G A rs2230760 PLXNC1 Synonymous SNV P1209P 0.107 0.109 0.122 50 126 42 0.128 36 5 2 2 4 14.4 14017 chr12 71972674 71972674 G C rs146398590 LGR5 Nonsynonymous SNV Q433H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.4 14018 chr12 94761701 94761701 T C rs12426243 CEP83 Synonymous SNV R329R 0.103 0.104 0.099 48 121 40 0.123 29 6 3 1 6 6.187 14019 chr14 93276654 93276654 T C rs1040835 GOLGA5 Nonsynonymous SNV F350L 0.732 0.742 0.701 274 859 285 0.703 206 313 108 73 95 12.28 14020 chr3 51990119 51990119 A C rs28587738 GPR62 Nonsynonymous SNV T151P 0.995 0.99 0.847 387 1168 380 0.992 249 583 190 123 193 5.195 14021 chr14 93399101 93399101 C T rs729940 CHGA Nonsynonymous SNV R248W 0.135 0.154 0.163 35 159 59 0.09 48 12 3 5 1 26.3 14022 chr3 41756965 41756965 C T rs61744388 ULK4 Nonsynonymous SNV V549I 0.257 0.245 0.255 114 302 94 0.292 75 41 12 7 15 0.185 14023 chr12 88472996 88472996 C T rs61941020 CEP290 Nonsynonymous SNV R1746Q 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 Benign/Likely benign 24.9 14024 chr3 51990315 51990315 A G rs28651222 GPR62 Nonsynonymous SNV H216R 0.998 1 0.912 389 1172 384 0.997 268 585 192 133 194 0.255 14025 chr12 93788450 93788450 C T rs149292149 NUDT4, NUDT4B Synonymous SNV P3P 0.024 0.021 0.037 7 28 8 0.018 11 0 0 1 0 15.32 14026 chr14 93401178 93401178 A G rs941581 CHGA Synonymous SNV E290E 0.701 0.714 0.755 273 823 274 0.7 222 295 102 82 91 4.483 14027 chr3 41756986 41756986 A T rs61744385 ULK4 Nonsynonymous SNV L542M 0.257 0.245 0.255 114 302 94 0.292 75 41 12 7 15 8.832 14028 chr14 93429157 93429157 C T rs149380374 ITPK1 Synonymous SNV T15T 0 0.01 0.01 4 0 4 0.01 3 0 0 0 0 19.09 14029 chr3 52004097 52004097 - G rs373373105 ABHD14B Frameshift insertion V68Gfs*35 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 14030 chr12 94243853 94243853 C T rs56944668 CRADD Synonymous SNV L136L 0.198 0.229 0.214 77 233 88 0.197 63 20 7 9 9 11.75 14031 chr14 93994954 93994954 G A rs28420706 UNC79 Synonymous SNV P338P 0.53 0.536 0.571 203 622 206 0.521 168 170 52 48 53 10.7 14032 chr3 52011912 52011912 G A rs17849626 ABHD14A Nonsynonymous SNV R32Q 0.041 0.047 0.031 22 48 18 0.056 9 1 1 0 1 31 14033 chr14 94007075 94007075 C T rs1951716 UNC79 Synonymous SNV G474G 0.601 0.617 0.636 237 705 237 0.608 187 211 69 60 71 14.68 14034 chr12 94543506 94543506 C T rs2230754 PLXNC1 Synonymous SNV Y253Y 0.33 0.323 0.337 137 388 124 0.351 99 63 22 15 19 8.659 14035 chr3 41831203 41831203 C T rs17215589 ULK4 Nonsynonymous SNV A413T 0.216 0.198 0.207 93 254 76 0.238 61 25 6 5 12 17.87 14036 chr14 94088369 94088369 T C rs28670114 UNC79 Nonsynonymous SNV V1420A 0.173 0.19 0.187 74 203 73 0.19 55 16 7 5 12 0.001 14037 chr3 52237970 52237970 C T rs352168 ALAS1 Synonymous SNV I173I 0.524 0.526 0.5 228 615 202 0.585 147 163 55 36 67 17.21 14038 chr13 103385534 103385534 C T rs17592438 CCDC168 Nonsynonymous SNV R5838Q 0.147 0.174 0.187 66 172 67 0.169 55 5 5 2 5 0.012 14039 chr12 70963598 70963598 C T rs111634123 PTPRB Nonsynonymous SNV S856N 0.003 0 0.003 6 3 0 0.015 1 0 0 0 0 0.012 14040 chr3 52256697 52256697 C T rs352140 TLR9 Synonymous SNV P545P 0.537 0.531 0.531 231 631 204 0.592 156 169 56 43 68 3.512 14041 chr14 94088587 94088587 G A rs4905081 UNC79 Nonsynonymous SNV V1493I 0.497 0.492 0.493 199 583 189 0.51 145 142 45 36 50 0.001 14042 chr12 95479649 95479649 G A rs147286385 FGD6 Synonymous SNV G1338G 0.018 0.008 0.007 4 21 3 0.01 2 1 0 0 0 11.75 14043 chr3 52264907 52264907 T C rs352143 TWF2 Synonymous SNV K196K 0.181 0.182 0.156 90 213 70 0.231 46 21 8 4 13 4.829 14044 chr12 95502303 95502303 G A rs11107896 FGD6 Synonymous SNV H1056H 0.129 0.159 0.122 41 151 61 0.105 36 7 2 2 2 11.23 14045 chr14 94103602 94103602 G A rs4905082 UNC79 Synonymous SNV T1781T 0.664 0.664 0.663 265 779 255 0.679 195 259 84 63 87 14.33 14046 chr3 41877414 41877414 T C rs3774372 ULK4 Nonsynonymous SNV K267R 0.255 0.237 0.238 109 299 91 0.279 70 39 11 6 14 21.6 14047 chr14 94187832 94187832 C T rs1887197 PRIMA1 Synonymous SNV S140S 0.662 0.667 0.653 279 777 256 0.715 192 264 82 65 97 Benign 11.83 14048 chr12 89745557 89745557 G A rs61734372 DUSP6 Nonsynonymous SNV T87I 0.028 0.042 0.034 16 33 16 0.041 10 0 0 0 0 18.76 14049 chr12 95604290 95604290 T C rs10507047 FGD6 Nonsynonymous SNV Q257R 0.149 0.182 0.136 49 175 70 0.126 40 12 3 3 1 0.061 14050 chr3 52279951 52279951 T G rs114645176 PPM1M Synonymous SNV L37L 0.084 0.091 0.105 45 99 35 0.115 31 5 2 1 3 9.953 14051 chr14 94245649 94245649 A G rs4905087 PRIMA1 Synonymous SNV H34H 0.818 0.823 0.759 298 960 316 0.764 223 389 128 86 107 Benign 1.835 14052 chr3 41952852 41952852 T C rs35263917 ULK4 Nonsynonymous SNV S46G 0.216 0.198 0.207 93 254 76 0.238 61 25 6 5 12 22.7 14053 chr14 94245652 94245652 C T rs4900195 PRIMA1 Synonymous SNV T33T 0.487 0.495 0.442 181 572 190 0.464 130 134 42 24 38 Benign 13.44 14054 chr3 52293859 52293859 A G rs3210487 WDR82 Synonymous SNV Y191Y 0.103 0.104 0.112 49 121 40 0.126 33 5 2 1 3 6.503 14055 chr14 94391699 94391699 G A rs10141024 FAM181A Nonsynonymous SNV A28T 0.511 0.513 0.582 210 600 197 0.538 171 147 52 44 56 5.955 14056 chr3 52325039 52325039 G A rs35976326 GLYCTK Synonymous SNV P147P 0.105 0.104 0.112 50 123 40 0.128 33 5 2 1 3 7.092 14057 chr12 89917037 89917037 G A rs2230282 GALNT4, POC1B-GALNT4 Synonymous SNV N430N 0.162 0.154 0.139 65 190 59 0.167 41 19 5 4 4 2.651 14058 chr14 94394744 94394744 G T FAM181A Nonsynonymous SNV R38L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 14059 chr3 52391735 52391735 A C rs11714402 DNAH1 Synonymous SNV R1322R 0.16 0.154 0.167 75 188 59 0.192 49 12 7 2 9 Benign 0.037 14060 chr12 95602805 95602805 C A rs117209224 FGD6 Nonsynonymous SNV R752L 0.01 0.016 0.034 1 12 6 0.003 10 0 0 0 0 22.9 14061 chr3 52409421 52409421 A G rs56002041 DNAH1 Nonsynonymous SNV N2384S 0.101 0.094 0.112 49 119 36 0.126 33 5 2 1 3 Benign 0.003 14062 chr14 94405871 94405871 G C rs10873442 ASB2 Synonymous SNV A352A 0.883 0.878 0.888 353 1037 337 0.905 261 458 146 117 160 7.309 14063 chr13 103390386 103390386 C A rs74471135 CCDC168 Nonsynonymous SNV A4221S 0.124 0.125 0.119 53 145 48 0.136 35 8 1 2 3 3.54 14064 chr14 94417421 94417421 G A rs7147919 ASB2 Synonymous SNV N220N 0.658 0.648 0.663 268 772 249 0.687 195 255 78 65 87 9.221 14065 chr13 103391605 103391605 T C rs17592480 CCDC168 Synonymous SNV K3814K 0.127 0.125 0.129 53 149 48 0.136 38 8 1 2 3 6.025 14066 chr12 66517786 66517786 A - rs771767814 LLPH M75Rfs*13 0.004 0.013 0 0 5 5 0 0 0 0 0 0 14067 chr14 94417541 94417541 A G rs4277287 ASB2 Synonymous SNV N180N 0.889 0.891 0.898 355 1044 342 0.91 264 463 151 120 161 8.062 14068 chr14 94417586 94417586 G A rs4483793 ASB2 Synonymous SNV C165C 0.658 0.648 0.663 268 773 249 0.687 195 256 78 65 87 9.417 14069 chr13 103391634 103391634 C T rs7322112 CCDC168 Nonsynonymous SNV V3805I 0.777 0.76 0.772 293 912 292 0.751 227 355 108 90 112 5.266 14070 chr12 66597527 66597527 A G rs35239505 IRAK3 Nonsynonymous SNV H57R 0.011 0.021 0.003 1 13 8 0.003 1 0 1 0 0 12.99 14071 chr12 90028901 90028901 T C rs1050395 ATP2B1 Synonymous SNV E112E 0.188 0.211 0.231 76 221 81 0.195 68 24 6 5 8 0.475 14072 chr3 52428988 52428988 C A rs11708581 DNAH1 Synonymous SNV V3627V 0.101 0.094 0.112 49 119 36 0.126 33 5 2 1 3 Benign 18.17 14073 chr14 94510964 94510964 T C rs2273226 OTUB2 Synonymous SNV D112D 0.453 0.456 0.374 180 532 175 0.462 110 119 39 19 42 0.694 14074 chr13 103392127 103392127 T A rs74435572 CCDC168 Nonsynonymous SNV K3640N 0.124 0.125 0.119 53 145 48 0.136 35 8 1 1 3 5.84 14075 chr14 94524216 94524216 T C rs1056810 DDX24 Synonymous SNV A647A 0.356 0.352 0.299 131 418 135 0.336 88 75 27 10 19 7.873 14076 chr3 52430526 52430526 G A rs12163565 DNAH1 Nonsynonymous SNV G3801D 0.222 0.224 0.245 74 261 86 0.19 72 30 7 11 8 Benign 4.939 14077 chr12 71016340 71016340 C T rs7298147 PTPRB Nonsynonymous SNV G180S 0.037 0.055 0.034 18 44 21 0.046 10 0 0 2 1 0.061 14078 chr13 103392709 103392709 A T rs79592880 CCDC168 Nonsynonymous SNV D3446E 0.127 0.125 0.129 53 149 48 0.136 38 8 1 2 3 2.57 14079 chr14 94582130 94582130 - GGCCATGGC rs3064076 IFI27, IFI27 A43_V44insMAA 0.691 0.661 0.656 279 811 254 0.715 193 277 89 69 98 14080 chr14 94750314 94750314 C A rs41313509 SERPINA10 Synonymous SNV P441P 0.012 0.013 0.017 4 14 5 0.01 5 0 0 0 0 9.3 14081 chr13 103394003 103394003 G A rs1449707 CCDC168 Nonsynonymous SNV T3015I 0.773 0.76 0.769 294 907 292 0.754 226 352 108 89 113 2.434 14082 chr3 52430698 52430698 A G rs365048 DNAH1 Nonsynonymous SNV H3832R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 6.6 14083 chr14 94756450 94756450 T A rs2232700 SERPINA10 Nonsynonymous SNV T161S 0.154 0.143 0.156 53 181 55 0.136 46 15 6 3 3 0.001 14084 chr12 71029680 71029680 A G rs74101511 PTPRB Synonymous SNV S74S 0.031 0.039 0.041 14 36 15 0.036 12 0 0 1 1 0.705 14085 chr13 103394613 103394613 T G rs9585986 CCDC168 Nonsynonymous SNV T2812P 0.775 0.76 0.769 293 910 292 0.751 226 354 108 89 112 1.903 14086 chr3 42251329 42251329 C T rs2290133 TRAK1 Synonymous SNV P531P 0.355 0.344 0.299 102 417 132 0.262 88 79 21 16 12 13.42 14087 chr12 71078528 71078528 C T rs35390084 PTPRR Nonsynonymous SNV V194I 0.03 0.042 0.044 15 35 16 0.038 13 0 0 1 1 16.67 14088 chr13 103394716 103394716 T C rs9585987 CCDC168 Synonymous SNV T2777T 0.775 0.763 0.741 293 910 293 0.751 218 354 109 87 112 9.737 14089 chr14 94756750 94756750 T C rs941591 SERPINA10 Nonsynonymous SNV S61G 0.156 0.146 0.16 53 183 56 0.136 47 15 6 3 3 0.001 14090 chr3 52453893 52453893 C T rs498778 PHF7 Synonymous SNV G77G 0.946 0.945 0.939 365 1111 363 0.936 276 526 171 129 171 12.25 14091 chr3 42251577 42251577 - GGA rs10634555 TRAK1 E624_G625insE 0.18 0.195 0.122 80 211 75 0.205 36 27 11 4 12 14092 chr3 42251577 42251577 - GGAGGA TRAK1 E624_G625insEE 0.271 0.255 0.119 80 318 98 0.205 35 72 19 8 10 14093 chr3 42728144 42728144 A G rs6805421 KLHL40 Nonsynonymous SNV N345S 0.612 0.604 0.602 235 718 232 0.603 177 216 72 50 75 Benign 7.924 14094 chr14 94756794 94756794 T C rs941590 SERPINA10 Nonsynonymous SNV K46R 0.491 0.497 0.452 210 576 191 0.538 133 140 48 35 52 0.008 14095 chr3 52492707 52492707 T C rs1541495 NISCH Synonymous SNV N69N 0.936 0.94 0.932 362 1099 361 0.928 274 522 170 128 169 4.212 14096 chr13 103396716 103396716 C G rs6491708 CCDC168 Nonsynonymous SNV E2111Q 0.773 0.76 0.752 293 907 292 0.751 221 352 108 87 112 1.346 14097 chr12 9016563 9016564 GC - rs144686314 A2ML1 A735Qfs*34 0.072 0.099 0.058 36 85 38 0.092 17 1 1 0 1 14098 chr3 52510592 52510592 G A rs9856575 NISCH Nonsynonymous SNV V299I 0.964 0.966 0.98 373 1132 371 0.956 288 546 179 141 178 8.668 14099 chr12 96384249 96384249 T C rs36014288 HAL Synonymous SNV P51P 0.092 0.089 0.102 21 108 34 0.054 30 1 0 1 1 Likely benign 8.769 14100 chr13 103397583 103397583 C G rs9582626 CCDC168 Nonsynonymous SNV A1822P 0.775 0.76 0.769 293 910 292 0.751 226 354 108 89 112 0.923 14101 chr14 94772504 94772504 G A rs1042394 SERPINA6 Synonymous SNV L312L 0.229 0.237 0.245 75 269 91 0.192 72 35 10 9 9 7.664 14102 chr3 42733468 42733468 T C rs123509 KLHL40 Nonsynonymous SNV C617R 0.765 0.781 0.762 310 898 300 0.795 224 339 122 83 129 Benign 0.041 14103 chr12 96653535 96653535 G A rs144750378 ELK3 Synonymous SNV P19P 0.014 0.013 0.007 11 16 5 0.028 2 0 0 0 0 Benign 14.79 14104 chr13 103397890 103397890 G A rs75285783 CCDC168 Synonymous SNV Y1719Y 0.126 0.125 0.126 53 148 48 0.136 37 8 1 2 3 16.47 14105 chr14 94776219 94776219 C T rs2228542 SERPINA6 Synonymous SNV S246S 0.228 0.247 0.248 78 268 95 0.2 73 35 10 9 11 11.81 14106 chr3 52523405 52523405 C T rs887515 NISCH Nonsynonymous SNV A1056V 0.815 0.807 0.81 307 957 310 0.787 238 393 127 93 122 1.336 14107 chr14 94776221 94776221 A C rs2228541 SERPINA6 Nonsynonymous SNV S246A 0.477 0.508 0.473 205 560 195 0.526 139 129 50 27 54 0.002 14108 chr13 103399837 103399837 C A rs58265842 CCDC168 Nonsynonymous SNV R1070S 0.127 0.122 0.129 54 149 47 0.138 38 8 1 2 3 12.08 14109 chr3 42735150 42735150 T C rs11079 HHATL Nonsynonymous SNV M403V 0.578 0.586 0.575 243 679 225 0.623 169 196 66 44 84 0.659 14110 chr13 103400033 103400033 A G rs17592564 CCDC168 Nonsynonymous SNV L1005P 0.128 0.125 0.129 54 150 48 0.138 38 8 1 2 3 13.77 14111 chr3 52544470 52544470 A G rs9835659 STAB1 Nonsynonymous SNV M912V 0.959 0.966 0.98 371 1126 371 0.951 288 540 179 141 176 0.001 14112 chr14 94780608 94780608 G A rs3748320 SERPINA6 Synonymous SNV T126T 0.187 0.198 0.211 67 219 76 0.172 62 20 7 6 10 7.145 14113 chr12 6711144 6711144 A C rs74790047 CHD4 Nonsynonymous SNV D133E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.32 14114 chr13 103400083 103400083 G A rs1026158 CCDC168 Synonymous SNV S988S 0.618 0.602 0.616 224 725 231 0.574 181 225 71 59 69 15.83 14115 chr12 9020563 9020563 T C rs61749073 A2ML1 Synonymous SNV V790V 0.051 0.049 0.054 14 60 19 0.036 16 0 1 0 0 Benign 0.436 14116 chr14 94849201 94849201 C T rs709932 SERPINA1 Nonsynonymous SNV R125H 0.166 0.185 0.211 76 195 71 0.195 62 11 8 6 6 Benign 0.19 14117 chr3 42735274 42735274 A G rs339697 HHATL Synonymous SNV A361A 0.594 0.607 0.588 247 697 233 0.633 173 206 71 47 87 0.002 14118 chr3 52551010 52551010 C T rs79979130 STAB1 Synonymous SNV P1458P 0.082 0.07 0.071 40 96 27 0.103 21 2 0 0 2 13.14 14119 chr13 103400729 103400729 G A rs12583104 CCDC168 Nonsynonymous SNV P773L 0.772 0.76 0.772 294 906 292 0.754 227 352 108 89 113 3.972 14120 chr3 42907112 42907112 A C rs2228468 ACKR2 Nonsynonymous SNV Y373S 0.41 0.448 0.371 165 481 172 0.423 109 97 38 14 31 0.002 14121 chr13 103402522 103402522 C T rs9300760 CCDC168 Synonymous SNV T175T 0.775 0.763 0.772 293 910 293 0.751 227 354 109 90 112 3.031 14122 chr3 52554304 52554304 G C rs7630214 STAB1 Nonsynonymous SNV A1833P 0.951 0.966 0.956 377 1116 371 0.967 281 530 179 134 182 10.38 14123 chr14 94912799 94912799 G A rs12888805 SERPINA11 Synonymous SNV T262T 0.363 0.367 0.405 143 426 141 0.367 119 73 26 22 20 13.29 14124 chr14 94912896 94912896 T G rs1885137 SERPINA11 Nonsynonymous SNV E230A 0.363 0.367 0.405 143 426 141 0.367 119 73 26 22 20 0.035 14125 chr3 52555957 52555957 T C rs9853056 STAB1 Synonymous SNV R2087R 0.565 0.563 0.592 242 663 216 0.621 174 192 64 51 77 0.003 14126 chr12 68051420 68051420 C A rs34166200 DYRK2 Nonsynonymous SNV H172N 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 5.887 14127 chr14 94929541 94929541 G A rs2224418 SERPINA9 Synonymous SNV G301G 0.813 0.797 0.793 324 955 306 0.831 233 390 119 91 134 1.428 14128 chr12 9083336 9083336 A G rs1805777 PHC1 Synonymous SNV R306R 0.088 0.076 0.071 23 103 29 0.059 21 10 2 5 1 Benign 0.07 14129 chr3 52556369 52556369 C T rs35325270 STAB1 Synonymous SNV H2163H 0.085 0.073 0.092 41 100 28 0.105 27 2 0 0 2 9.669 14130 chr14 94931105 94931105 A G rs11628722 SERPINA9 Nonsynonymous SNV V250A 0.813 0.799 0.793 324 955 307 0.831 233 390 120 91 134 0.001 14131 chr12 7818468 7818468 T C rs139646668 APOBEC1 Star tloss M1? 0.006 0.003 0.003 6 7 1 0.015 1 1 0 0 0 20.3 14132 chr3 52556890 52556890 A G rs4434138 STAB1 Nonsynonymous SNV I2282V 0.461 0.466 0.486 188 541 179 0.482 143 130 44 36 46 5.483 14133 chr12 72030324 72030324 C T rs144809506 ZFC3H1 Synonymous SNV R682R 0.013 0.016 0.017 7 15 6 0.018 5 0 0 0 0 Benign 8.776 14134 chr14 94933709 94933709 C T rs6575433 SERPINA9 Synonymous SNV E133E 0.511 0.505 0.5 201 600 194 0.515 147 154 43 34 48 12.67 14135 chr12 72164395 72164395 C T rs3741688 RAB21 Synonymous SNV F81F 0.068 0.063 0.071 37 80 24 0.095 21 2 0 1 2 16.74 14136 chr14 94935901 94935901 G C rs12879019 SERPINA9 Nonsynonymous SNV Q13E 0.194 0.185 0.194 74 228 71 0.19 57 16 7 7 6 15.77 14137 chr3 52558008 52558008 T C rs13303 STAB1 Nonsynonymous SNV M2506T 0.564 0.563 0.588 241 662 216 0.618 173 191 64 51 76 0.004 14138 chr12 72265915 72265915 C T rs147120579 TBC1D15 Synonymous SNV G32G 0.011 0.005 0.01 4 13 2 0.01 3 0 0 0 0 14.81 14139 chr14 95053890 95053890 G A rs6115 SERPINA5 Nonsynonymous SNV S64N 0.658 0.685 0.673 282 772 263 0.723 198 256 89 65 101 0.146 14140 chr3 52558133 52558133 T C rs13621 STAB1 Synonymous SNV D2520D 0.459 0.466 0.486 185 539 179 0.474 143 130 43 36 44 0.005 14141 chr12 72312268 72312268 G A rs11178985 TBC1D15 Synonymous SNV R513R 0.079 0.076 0.075 27 93 29 0.069 22 3 0 0 1 13.6 14142 chr13 103705044 103705044 A C rs188096 SLC10A2 Nonsynonymous SNV S171A 0.883 0.862 0.867 347 1037 331 0.89 255 456 139 112 155 Benign 0.326 14143 chr3 52610651 52610651 T A rs17264436 PBRM1 Synonymous SNV P1199P 0.411 0.411 0.449 170 483 158 0.436 132 105 36 32 35 10.59 14144 chr14 95054176 95054176 T C rs6112 SERPINA5 Synonymous SNV P159P 0.659 0.685 0.673 281 774 263 0.721 198 258 89 65 100 0.05 14145 chr14 95058462 95058462 A C rs6116 SERPINA5 Synonymous SNV I369I 0.475 0.542 0.51 198 558 208 0.508 150 132 60 41 46 0.002 14146 chr3 52643685 52643685 T C rs3755806 PBRM1 Synonymous SNV T737T 0.417 0.414 0.446 173 490 159 0.444 131 104 36 32 36 1.665 14147 chr14 95107973 95107973 C T rs4905226 SERPINA13P 0 0 0.262 0 0 0 0 77 0 0 10 0 6.513 14148 chr13 106119446 106119446 G A rs2391191 DAOA Nonsynonymous SNV R30K 0.296 0.305 0.316 117 347 117 0.3 93 55 17 18 24 not provided 0.846 14149 chr12 80014907 80014907 A C rs2307223 PAWR Nonsynonymous SNV I199M 0.053 0.039 0.014 18 62 15 0.046 4 3 0 2 1 6.855 14150 chr3 52721305 52721305 G A rs11177 GNL3 Nonsynonymous SNV R39Q 0.417 0.411 0.442 172 490 158 0.441 130 104 36 32 36 22.9 14151 chr14 95579534 95579534 C T rs61751177 DICER1 Synonymous SNV P645P 0.026 0.018 0.014 8 31 7 0.021 4 0 0 0 0 Benign/Likely benign 16.49 14152 chr3 43097765 43097765 G A rs3732858 GASK1A Nonsynonymous SNV G539S 0.184 0.172 0.211 69 216 66 0.177 62 18 6 6 9 29.6 14153 chr14 95903308 95903310 AGA - rs76499929 SYNE3 L796del 0.148 0.148 0.177 51 174 57 0.131 52 12 3 4 4 14154 chr13 106142235 106142235 C T rs778294 DAOA Synonymous SNV T61T 0.266 0.234 0.231 99 312 90 0.254 68 40 13 7 10 1.301 14155 chr3 52723309 52723309 C T rs78417298 SNORD19 0.02 0.013 0.044 9 23 5 0.023 13 0 0 0 0 17.76 14156 chr14 95906023 95906023 G A rs17828632 SYNE3 Synonymous SNV A724A 0.148 0.156 0.184 58 174 60 0.149 54 10 2 5 5 9.54 14157 chr14 95906321 95906321 G A rs9671369 SYNE3 Nonsynonymous SNV T668M 0.323 0.31 0.327 128 379 119 0.328 96 60 16 21 21 13.72 14158 chr3 52727257 52727257 G A rs2289247 GNL3 Nonsynonymous SNV V367M 0.44 0.445 0.473 189 517 171 0.485 139 113 43 35 41 12.82 14159 chr12 80083792 80083792 G C rs8176805 PAWR Nonsynonymous SNV P78R 0.024 0.01 0 9 28 4 0.023 0 2 0 0 1 16.11 14160 chr13 107822917 107822917 T C rs141380144 FAM155A Synonymous SNV A435A 0.029 0.018 0.02 7 34 7 0.018 6 1 0 0 0 0.072 14161 chr13 108861913 108861913 A G rs1805386 LIG4 Synonymous SNV D568D 0.225 0.219 0.16 69 264 84 0.177 47 32 5 4 3 Benign 0.012 14162 chr14 95910933 95910933 T C rs9919918 SYNE3 Synonymous SNV A555A 0.156 0.159 0.218 60 183 61 0.154 64 19 13 6 5 0.025 14163 chr3 52797634 52797634 G C rs1029871 NEK4 Nonsynonymous SNV P136A 0.394 0.385 0.429 166 462 148 0.426 126 105 36 32 36 24.1 14164 chr12 80704484 80704484 A G rs117462138 OTOGL Nonsynonymous SNV I1134V 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign/Likely benign 0.21 14165 chr13 109438084 109438084 T A rs911973 MYO16 Nonsynonymous SNV D203E 0.02 0.021 0.048 8 23 8 0.021 14 1 1 0 0 7.415 14166 chr14 95918625 95918625 T C rs4905318 SYNE3 Synonymous SNV P411P 0.38 0.346 0.412 152 446 133 0.39 121 88 23 29 29 0.104 14167 chr14 95921741 95921741 C T rs4905324 SYNE3 Synonymous SNV E370E 0.471 0.414 0.493 192 553 159 0.492 145 132 31 39 48 8.843 14168 chr3 52800284 52800284 T C rs2230535 NEK4 Synonymous SNV L67L 0.417 0.414 0.446 173 490 159 0.444 131 105 36 32 36 3.077 14169 chr14 95923670 95923670 A C rs2024863 SYNE3 Synonymous SNV R211R 0.486 0.435 0.531 198 571 167 0.508 156 138 34 42 49 0.003 14170 chr13 109518578 109518578 T C rs9559428 MYO16 Synonymous SNV I471I 0.109 0.094 0.105 33 128 36 0.085 31 8 3 1 1 7.362 14171 chr12 988894 988894 G A rs9804992 WNK1 Synonymous SNV Q843Q 0.171 0.172 0.177 58 201 66 0.149 52 19 3 4 4 Benign 0.496 14172 chr14 96000090 96000090 G A rs45528633 SNHG10 0 0 0.327 0 0 0 0 96 0 0 14 0 5.474 14173 chr3 52802402 52802402 A C rs2230534 NEK4 Synonymous SNV P104P 0.417 0.414 0.446 173 489 159 0.444 131 104 36 32 36 0.016 14174 chr13 109707827 109707827 T C rs9521141 MYO16 Synonymous SNV D1073D 0.08 0.086 0.071 33 94 33 0.085 21 8 1 0 1 2.751 14175 chr14 96010424 96010424 G A rs11628901 GLRX5 Nonsynonymous SNV A146T 0.193 0.182 0.221 62 226 70 0.159 65 16 10 7 3 Benign 25.3 14176 chr12 99007623 99007623 C T rs1048906 IKBIP Nonsynonymous SNV G265S 0.29 0.307 0.333 111 341 118 0.285 98 41 19 19 14 4.909 14177 chr3 52820981 52820981 A T rs678 ITIH1 Nonsynonymous SNV E297V 0.395 0.378 0.401 164 464 145 0.421 118 90 32 26 32 no interpretation for the single variant 25.9 14178 chr12 62749124 62749124 A T rs34633189 USP15 Synonymous SNV S12S 0.033 0.042 0.048 11 39 16 0.028 14 0 0 0 1 1.962 14179 chr14 96129955 96129955 A C rs8015466 TCL6 0 0 0.33 0 0 0 0 97 0 0 14 0 0.032 14180 chr12 9321475 9321475 T C rs34427370 PZP Synonymous SNV G699G 0.012 0.008 0.007 1 14 3 0.003 2 0 0 0 0 0.507 14181 chr14 96136794 96136794 A G rs2249778 TCL6 0 0 0.207 0 0 0 0 61 0 0 4 0 6.33 14182 chr14 96157187 96157187 G A rs1064017 TCL1B Nonsynonymous SNV G93R 0.43 0.445 0.503 144 505 171 0.369 148 104 32 34 20 23.6 14183 chr3 52821011 52821011 A G rs1042779 ITIH1 Nonsynonymous SNV Q307R 0.404 0.385 0.412 166 474 148 0.426 121 94 33 27 32 no interpretation for the single variant 0.151 14184 chr12 9885682 9885682 T C rs144269074 CLECL1 Nonsynonymous SNV D60G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.15 14185 chr14 96707457 96707457 A G rs5224 BDKRB2 Synonymous SNV T264T 0.784 0.773 0.81 290 920 297 0.744 238 363 113 96 101 0.001 14186 chr12 75784906 75784906 G C GLIPR1L2 Nonsynonymous SNV A4P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.397 14187 chr3 52830764 52830764 C T rs2240921 ITIH3 Synonymous SNV D97D 0.109 0.117 0.133 51 128 45 0.131 39 6 2 1 2 9.012 14188 chr14 96730142 96730142 A G rs2071084 BDKRB1 Synonymous SNV P41P 0.813 0.818 0.84 310 955 314 0.795 247 390 128 104 120 0.054 14189 chr3 44463198 44463198 G A rs12493586 C3orf86 Nonsynonymous SNV P36S 0.085 0.078 0 36 100 30 0.092 0 2 0 0 0 6.862 14190 chr14 96771959 96771959 A G rs2289622 ATG2B Nonsynonymous SNV I1567T 0.986 0.984 0.993 387 1158 378 0.992 292 572 186 145 192 11.64 14191 chr3 52833805 52833805 C A rs3617 ITIH3 Nonsynonymous SNV Q315K 0.477 0.438 0.507 196 560 168 0.503 149 133 39 36 53 0.158 14192 chr14 96777468 96777468 G C rs3759601 ATG2B Nonsynonymous SNV Q1383E 0.343 0.336 0.367 127 403 129 0.326 108 76 22 24 23 0.081 14193 chr3 52864584 52864584 A G rs2071042 ITIH4 Synonymous SNV T25T 0.405 0.38 0.463 161 475 146 0.413 136 100 27 30 35 0.601 14194 chr14 96781912 96781912 T C rs9323945 ATG2B Nonsynonymous SNV N1124D 0.984 0.982 0.993 387 1155 377 0.992 292 571 186 145 192 8.802 14195 chr3 52864635 52864635 A G rs2276818 ITIH4 Synonymous SNV R8R 0.164 0.174 0.184 70 193 67 0.179 54 18 8 2 8 0.272 14196 chr3 52867715 52867715 G C rs6787916 MUSTN1, STIMATE-MUSTN1 Nonsynonymous SNV D20E 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 17.86 14197 chr14 96797724 96797724 G A rs1822372 ATG2B Synonymous SNV H573H 0.981 0.984 0.993 387 1152 378 0.992 292 570 186 145 192 8.992 14198 chr12 994014 994014 C T rs10849577 WNK1 Synonymous SNV T1101T 0.211 0.161 0.146 72 248 62 0.185 43 34 4 5 5 Benign 0.216 14199 chr12 7045891 7045891 - CAG ATN1 Q502_H503insQ 0.083 0.096 0.044 38 98 37 0.097 13 14 4 2 3 14200 chr14 96829290 96829290 G A rs12434329 ATG2B Synonymous SNV S8S 0.65 0.677 0.663 260 763 260 0.667 195 249 89 69 88 12.26 14201 chr13 100888122 100888122 A G rs538229 PCCA Synonymous SNV A183A 0.21 0.219 0.177 70 247 84 0.179 52 21 6 5 9 Benign 3.566 14202 chr3 53125922 53125922 T C rs11242 RFT1 Synonymous SNV T541T 0.579 0.552 0.534 192 680 212 0.492 157 199 54 42 39 Benign 0.129 14203 chr14 96871104 96871104 G A rs2275554 AK7 Nonsynonymous SNV R102Q 0.244 0.216 0.221 99 287 83 0.254 65 39 13 5 15 Benign 17.26 14204 chr3 53222761 53222761 C T rs2306574 PRKCD Synonymous SNV L500L 0.72 0.706 0.711 260 845 271 0.667 209 300 98 72 85 Benign 15.73 14205 chr13 111098226 111098226 C T rs4103 COL4A2 Synonymous SNV P336P 0.539 0.495 0.442 201 633 190 0.515 130 180 46 31 47 Benign 9.866 14206 chr3 44762830 44762830 A G rs56084453 ZNF502 Nonsynonymous SNV Q174R 0.251 0.245 0.235 87 295 94 0.223 69 45 13 6 9 17.61 14207 chr12 7653842 7653842 T C rs147375106 CD163 Nonsynonymous SNV H117R 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 19.76 14208 chr14 96922752 96922752 C G rs2369679 AK7 Nonsynonymous SNV N363K 0.875 0.831 0.905 354 1027 319 0.908 266 446 132 121 160 Benign 0.037 14209 chr3 53223927 53223927 C G rs1075865 PRKCD Synonymous SNV T613T 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 Benign 13.13 14210 chr13 111102042 111102042 G A rs76425569 COL4A2 Synonymous SNV P365P 0.296 0.224 0.269 105 347 86 0.269 79 50 9 12 11 Benign 13.89 14211 chr13 101720300 101720300 T G rs1289556 NALCN Synonymous SNV I1443I 0.361 0.354 0.337 138 424 136 0.354 99 65 25 12 25 Benign 7.944 14212 chr3 53224002 53224002 T C rs900495 PRKCD Synonymous SNV P638P 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 Benign 1.093 14213 chr13 111102126 111102126 C T rs74941798 COL4A2 Synonymous SNV I393I 0.319 0.247 0.286 109 374 95 0.279 84 57 10 13 11 Benign 12.89 14214 chr14 97321689 97321689 C T rs2230532 VRK1 Synonymous SNV G235G 0.357 0.367 0.374 132 419 141 0.338 110 78 27 18 16 Benign 17.47 14215 chr3 53267183 53267183 C T rs139694567 TKT Nonsynonymous SNV R246Q 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 Likely benign 25.1 14216 chr13 111109157 111109157 G A rs28502737 COL4A2-AS2 Synonymous SNV I305I 0.603 0.573 0.449 222 708 220 0.569 132 219 57 53 64 1.505 14217 chr12 9985915 9985915 G T rs2232548 KLRF1 Nonsynonymous SNV L67F 0.101 0.063 0.071 36 118 24 0.092 21 4 1 2 2 14.95 14218 chr14 98112541 98112541 T G rs12435621 LINC02291 0 0 0.139 0 0 0 0 41 0 0 3 0 0.527 14219 chr13 101763029 101763029 G A rs76776920 NALCN Nonsynonymous SNV H740Y 0.028 0.031 0.003 3 33 12 0.008 1 0 0 0 0 Benign 24.6 14220 chr13 111109882 111109882 A G rs9555703 COL4A2-AS2 Nonsynonymous SNV C120R 0.219 0.172 0.194 77 257 66 0.197 57 29 7 6 6 1.922 14221 chr14 98435696 98435696 T C rs2124843 LINC01550 0 0 0.997 0 0 0 0 293 0 0 146 0 0.018 14222 chr12 95927037 95927037 A G rs3812814 USP44 Synonymous SNV Y332Y 0.05 0.068 0.061 22 59 26 0.056 18 1 0 0 1 0.045 14223 chr12 80982097 80982097 A G rs61729263 PTPRQ Nonsynonymous SNV Y1320C 0.035 0.034 0.024 6 41 13 0.015 7 0 0 1 0 Benign 22.8 14224 chr3 53269028 53269028 G T rs150551962 TKT Nonsynonymous SNV D200E 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 Likely benign 0.002 14225 chr14 98444369 98444369 T C rs8016584 LINC01550 0 0 0.997 0 0 0 0 293 0 0 146 0 0.026 14226 chr13 111111173 111111173 G A rs7990214 COL4A2 Synonymous SNV P496P 0.607 0.576 0.626 226 713 221 0.579 184 220 57 59 66 Benign 9.52 14227 chr3 44854673 44854673 - T KIF15 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 14228 chr13 102227872 102227872 C T rs3916912 ITGBL1 Synonymous SNV D46D 0.174 0.151 0.163 65 204 58 0.167 48 11 4 3 8 14.18 14229 chr14 99182535 99182535 C T rs17097718 C14orf177 0.039 0.042 0.044 19 46 16 0.049 13 1 1 1 0 1.582 14230 chr13 111111235 111111235 G A rs7990383 COL4A2 Nonsynonymous SNV R517K 0.607 0.576 0.626 226 713 221 0.579 184 220 57 59 66 Benign 0.001 14231 chr13 102480271 102480271 T A rs9518577 FGF14 Nonsynonymous SNV K142I 0.33 0.349 0 147 387 134 0.377 0 88 32 0 30 6.059 14232 chr3 53321631 53321631 A C rs9628 DCP1A Synonymous SNV V413V 0.458 0.484 0.442 189 538 186 0.485 130 124 41 33 48 0.016 14233 chr14 99182626 99182626 T C rs4905757 C14orf177 0.117 0.107 0.092 59 137 41 0.151 27 8 3 2 6 0.052 14234 chr12 96266035 96266035 T C rs2117914 CCDC38 Synonymous SNV Q494Q 0.155 0.159 0.18 56 182 61 0.144 53 15 2 5 5 4.96 14235 chr3 53324820 53324825 TGGCAC - rs201612547 DCP1A 0.985 0.995 0.976 381 1156 382 0.977 287 578 191 143 190 14236 chr3 53700550 53700550 T C rs2250736 CACNA1D Synonymous SNV D368D 0.501 0.531 0.551 178 588 204 0.456 162 161 50 46 38 Benign 0.01 14237 chr15 100230529 100230529 A G rs919428393 MEF2A Nonsynonymous SNV K184E 0 0 0.007 0 0 0 0 2 0 0 0 0 28.4 14238 chr12 96288860 96288860 T C rs10859974 CCDC38 Nonsynonymous SNV M227V 0.19 0.172 0.201 63 223 66 0.162 59 19 4 6 7 0.305 14239 chr3 53769479 53769479 C T rs1045958 CACNA1D Synonymous SNV S900S 0.313 0.292 0.337 113 367 112 0.29 99 66 17 17 16 Benign 11.27 14240 chr15 100246936 100246936 T C rs325408 MEF2A Synonymous SNV N219N 0.838 0.799 0.82 318 984 307 0.815 241 418 118 100 129 7.861 14241 chr15 100246942 100246942 G A rs325407 MEF2A Synonymous SNV Q221Q 0.989 0.997 0.976 383 1161 383 0.982 287 574 191 140 188 10.43 14242 chr3 53844184 53844184 G A rs34388124 CACNA1D Synonymous SNV P1993P 0.037 0.026 0.034 21 44 10 0.054 10 1 0 0 1 Benign 10.36 14243 chr13 101290973 101290973 C G rs897538458 TMTC4 Nonsynonymous SNV E274Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.737 14244 chr15 100252710 100252715 CAGCAG - rs3138597 MEF2A Q351_Q352del 0.267 0.237 0.235 92 314 91 0.236 69 50 14 10 7 14245 chr3 53856653 53856653 C T rs2241808 CHDH Synonymous SNV A240A 0.511 0.474 0.524 200 600 182 0.513 154 158 43 43 53 10.41 14246 chr15 100252805 100252805 G T rs325400 MEF2A Synonymous SNV G373G 0.532 0.521 0.534 203 625 200 0.521 157 162 48 43 47 0.357 14247 chr15 100269680 100269680 G C rs2061007 LYSMD4 Nonsynonymous SNV A119G 0.583 0.583 0.592 225 684 224 0.577 174 202 64 51 60 20.9 14248 chr3 53857803 53857803 A C rs12676 CHDH Nonsynonymous SNV L78R 0.675 0.661 0.677 266 792 254 0.682 199 268 80 68 98 0.002 14249 chr3 45267310 45267310 C T rs41118 TMEM158 Synonymous SNV A70A 0.578 0.547 0.401 239 679 210 0.613 118 288 93 52 98 11.44 14250 chr13 102366825 102366825 A G rs2281991 ITGBL1 Synonymous SNV E298E 0.191 0.234 0.187 71 224 90 0.182 55 22 12 6 9 3.831 14251 chr3 45267321 45267321 C T rs395917 TMEM158 Nonsynonymous SNV A67T 0.511 0.495 0.367 222 600 190 0.569 108 261 85 48 95 8.397 14252 chr15 100269796 100269796 A G rs6598264 LYSMD4 Synonymous SNV S80S 0.997 1 0.99 389 1170 384 0.997 291 583 192 144 194 0.007 14253 chr13 111290630 111290630 T C rs41275126 NAXD Nonsynonymous SNV I312T 0.172 0.19 0.184 63 202 73 0.162 54 19 6 4 6 0.006 14254 chr3 53883722 53883722 C G rs1025689 IL17RB Synonymous SNV P42P 0.572 0.523 0.609 239 672 201 0.613 179 203 53 58 77 5.538 14255 chr12 7917936 7917936 G A rs12818448 NANOGNB Nonsynonymous SNV A19T 0.105 0.146 0.119 51 123 56 0.131 35 6 4 2 1 0.192 14256 chr15 100273607 100273607 G C rs35747287 LYSMD4 Synonymous SNV V14V 0.692 0.708 0.68 260 812 272 0.667 200 304 103 71 92 6.246 14257 chr3 54354510 54354510 T C rs9879885 CACNA2D3 Synonymous SNV I82I 0.721 0.784 0.799 296 847 301 0.759 235 303 116 91 113 0.449 14258 chr15 100273617 100273617 T C rs11631604 LYSMD4 Nonsynonymous SNV Q11R 0.693 0.719 0.714 263 813 276 0.674 210 306 104 77 94 7.176 14259 chr13 111293915 111293915 T G rs1043886 CARS2 Nonsynonymous SNV Q555P 0.171 0.185 0.187 64 201 71 0.164 55 19 6 4 5 Benign 7.522 14260 chr15 100514614 100514614 T C rs2573652 ADAMTS17 Nonsynonymous SNV N1094S 0.572 0.586 0.619 238 672 225 0.61 182 183 58 58 73 Benign 0.037 14261 chr3 54798258 54798258 G A rs3732748 CACNA2D3 Synonymous SNV Q420Q 0.477 0.479 0.527 190 560 184 0.487 155 135 49 39 48 5.44 14262 chr12 85521611 85521611 A G rs181317257 LRRIQ1 Nonsynonymous SNV M1337V 0.008 0.018 0.014 2 9 7 0.005 4 0 0 0 0 5.183 14263 chr3 54880461 54880461 A G rs3773603 CACNA2D3 Synonymous SNV G531G 0.165 0.216 0.139 70 194 83 0.179 41 13 10 1 6 1.136 14264 chr3 45557707 45557707 G A rs11549809 LARS2 Synonymous SNV T661T 0.425 0.385 0.435 178 499 148 0.456 128 90 27 29 41 Benign 14.44 14265 chr13 111298392 111298392 A G rs436462 CARS2 Synonymous SNV D413D 0.365 0.422 0.367 129 429 162 0.331 108 81 27 21 23 Benign 0.766 14266 chr15 100672237 100672237 T G rs12907333 ADAMTS17 Synonymous SNV R566R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 10.42 14267 chr3 56591278 56591278 - GGGGTAAGCA rs150150392 CCDC66 Stop gain D5* 0.776 0.815 0.772 296 911 313 0.759 227 351 126 86 114 14268 chr15 100794363 100794363 C T rs4369638 ADAMTS17 Synonymous SNV K351K 0.693 0.698 0.697 269 813 268 0.69 205 281 94 74 86 Benign 15.19 14269 chr12 80699475 80699475 G T rs10862089 OTOGL Nonsynonymous SNV Q1102H 0.104 0.089 0.071 48 122 34 0.123 21 7 1 0 2 Benign 25.5 14270 chr3 56597954 56597954 C T rs6769055 CCDC66 Synonymous SNV T82T 0.779 0.815 0.776 297 914 313 0.762 228 353 126 86 115 3.466 14271 chr15 100801698 100801698 G A rs4965613 ADAMTS17 Synonymous SNV A339A 0.65 0.659 0.646 250 763 253 0.641 190 246 84 63 75 Benign 16.44 14272 chr3 56627048 56627048 A G rs1388256 CCDC66 Synonymous SNV Q296Q 0.842 0.878 0.854 318 989 337 0.815 251 423 148 107 136 0.963 14273 chr15 100821467 100821467 G A rs7496640 ADAMTS17 Synonymous SNV A252A 0.393 0.388 0.337 169 461 149 0.433 99 86 29 17 34 Benign 14.96 14274 chr13 111340342 111340342 G A rs2304767 CARS2 Synonymous SNV L139L 0.306 0.271 0.269 135 359 104 0.346 79 55 15 9 16 Benign 5.795 14275 chr12 863152 863152 G A rs11554421 WNK1 Nonsynonymous SNV A141T 0.155 0.128 0.126 55 182 49 0.141 37 16 4 2 2 Benign 11.74 14276 chr15 100821576 100821576 G A rs7496668 ADAMTS17 Nonsynonymous SNV S216L 0.392 0.388 0.347 169 460 149 0.433 102 85 29 17 34 Benign 11.87 14277 chr3 56627598 56627598 A G rs1491170 CCDC66 Nonsynonymous SNV Q350R 0.997 0.982 0.997 386 1170 377 0.99 293 583 185 146 191 0.001 14278 chr12 72179446 72179446 C T rs61754230 RAB21 Nonsynonymous SNV S224F 0.036 0.044 0.037 6 42 17 0.015 11 0 0 0 0 32 14279 chr15 100889405 100889405 G C rs4965641 SPATA41 0 0 0.269 0 0 0 0 79 0 0 10 0 0.218 14280 chr3 56628031 56628031 G A rs7637449 CCDC66 Nonsynonymous SNV R427Q 0.499 0.513 0.51 214 586 197 0.549 150 142 45 39 62 34 14281 chr15 100889407 100889407 C T rs76220467 SPATA41 0 0 0.061 0 0 0 0 18 0 0 0 0 3.594 14282 chr15 100889496 100889496 T G rs2289584 SPATA41 0 0 0.776 0 0 0 0 228 0 0 88 0 5.842 14283 chr15 100942962 100942962 T C rs2439928 CERS3 Nonsynonymous SNV R370G 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 6.646 14284 chr13 113201849 113201849 T C rs113243133 TUBGCP3 Nonsynonymous SNV H418R 0.017 0.026 0.02 4 20 10 0.01 6 0 0 0 1 1.813 14285 chr3 56650051 56650051 - CTT rs56302802 CCDC66 S573_K574insS 0.302 0.331 0.313 97 354 127 0.249 92 60 22 14 15 14286 chr15 101041921 101041921 T C rs60405735 CERS3 Nonsynonymous SNV Y45C 0.087 0.096 0.082 38 102 37 0.097 24 9 3 2 2 0.085 14287 chr12 88472911 88472911 G A rs117370446 CEP290 Synonymous SNV L1774L 0.012 0.023 0.003 5 14 9 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.232 14288 chr3 56667682 56667682 G C rs9835332 TASOR Nonsynonymous SNV T609R 0.496 0.482 0.49 173 582 185 0.444 144 140 38 35 42 0.012 14289 chr13 113333684 113333684 C T rs7338610 ATP11AUN 0.624 0.596 0 266 732 229 0.682 0 228 71 0 96 6.067 14290 chr3 45942584 45942584 C T rs139107036 CCR9 Nonsynonymous SNV P90S 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 26.7 14291 chr13 113479820 113479820 A G rs368865 ATP11A Nonsynonymous SNV M317V 0.766 0.742 0.762 284 899 285 0.728 224 348 102 90 103 4.215 14292 chr15 101094127 101094127 T C rs12904576 PRKXP1 0 0 0.412 0 0 0 0 121 0 0 26 0 2.442 14293 chr15 101094130 101094130 C T rs11634945 PRKXP1 0 0 0.867 0 0 0 0 255 0 0 110 0 5.534 14294 chr3 56703746 56703746 A C rs13094666 TASOR Synonymous SNV V239V 0.204 0.242 0.187 60 239 93 0.154 55 28 13 6 3 0.905 14295 chr15 101094335 101094335 C G rs28628432 PRKXP1 0 0 0.442 0 0 0 0 130 0 0 28 0 4.549 14296 chr13 113508839 113508839 G C rs9549573 ATP11A Synonymous SNV L746L 0.599 0.578 0.616 213 703 222 0.546 181 220 65 59 59 2.445 14297 chr15 101094352 101094352 A G rs12904590 PRKXP1 0 0 0.99 0 0 0 0 291 0 0 144 0 2.426 14298 chr3 56716922 56716922 T G rs958755 TASOR Nonsynonymous SNV Q38P 0.497 0.487 0.486 176 584 187 0.451 143 142 38 36 43 12.44 14299 chr15 101094364 101094364 G A rs55954859 PRKXP1 0 0 0.153 0 0 0 0 45 0 0 2 0 3.43 14300 chr3 46008790 46008790 G A rs3796375 FYCO1 Nonsynonymous SNV A679V 0.428 0.362 0.374 165 503 139 0.423 110 110 23 24 27 Benign 23.7 14301 chr15 101098922 101098922 T C rs9920217 LOC102723335, PRKXP1 0 0 0.813 0 0 0 0 239 0 0 100 0 2.248 14302 chr15 101109677 101109677 C A rs8451 LINS1 Nonsynonymous SNV R680S 0.417 0.44 0.422 151 490 169 0.387 124 106 40 25 30 Benign 9.486 14303 chr13 103390322 103390322 T C rs112442443 CCDC168 Nonsynonymous SNV E4242G 0.016 0.013 0.007 8 19 5 0.021 2 0 0 0 0 Likely benign 1.097 14304 chr3 56763316 56763316 G A rs1565376 ARHGEF3 Synonymous SNV H527H 0.424 0.375 0.374 152 498 144 0.39 110 94 24 19 33 0.087 14305 chr3 46009864 46009864 C G rs3733100 FYCO1 Nonsynonymous SNV G321A 0.557 0.518 0.575 232 654 199 0.595 169 188 46 53 66 Benign 0.126 14306 chr3 56763328 56763328 T C rs1565377 ARHGEF3 Synonymous SNV G523G 0.426 0.378 0.374 154 500 145 0.395 110 96 24 19 34 0.534 14307 chr13 113741590 113741590 G A rs9604022 MCF2L Synonymous SNV S767S 0.256 0.19 0.224 108 300 73 0.277 66 42 7 6 15 8.222 14308 chr15 101109794 101109794 C G rs12157 LINS1 Nonsynonymous SNV E641D 0.417 0.44 0.422 150 490 169 0.385 124 106 40 25 30 Benign 0.226 14309 chr13 103392562 103392562 C A rs12585626 CCDC168 Nonsynonymous SNV M3495I 0.03 0.031 0.024 16 35 12 0.041 7 0 0 0 0 13.96 14310 chr3 56771251 56771251 A C rs3772219 ARHGEF3 Nonsynonymous SNV L341V 0.236 0.221 0.207 71 277 85 0.182 61 25 8 6 7 13.77 14311 chr13 113770068 113770068 C T rs6042 F7 Synonymous SNV H91H 0.159 0.169 0.211 88 187 65 0.226 62 15 4 5 7 Benign 8.949 14312 chr15 101109818 101109818 G A rs12460 LINS1 Synonymous SNV D633D 0.549 0.555 0.551 200 645 213 0.513 162 180 60 44 53 Benign 10.82 14313 chr13 113773159 113773159 G A rs6046 F7 Nonsynonymous SNV R329Q 0.15 0.164 0.194 85 176 63 0.218 57 14 4 4 8 Benign 6.758 14314 chr15 101109893 101109893 C A rs6598356 LINS1 Synonymous SNV G608G 0.417 0.44 0.422 150 490 169 0.385 124 106 40 25 30 Benign 11.01 14315 chr13 103394239 103394239 C T rs16960471 CCDC168 Synonymous SNV P2936P 0.025 0.026 0.024 12 29 10 0.031 7 0 0 0 0 0.226 14316 chr3 57108101 57108101 C T rs76587478 SPATA12 Nonsynonymous SNV P127S 0.044 0.031 0.044 21 52 12 0.054 13 2 0 0 0 13.09 14317 chr15 101113862 101113862 C T rs12719734 LINS1 Nonsynonymous SNV V406M 1 0.995 0.99 389 1174 382 0.997 291 587 190 144 194 8.458 14318 chr12 7480918 7480918 T A rs189484666 ACSM4 Synonymous SNV T564T 0.009 0.016 0.017 2 11 6 0.005 5 0 0 0 0 12.77 14319 chr3 57132200 57132200 A G rs2291462 IL17RD Synonymous SNV L511L 0.842 0.854 0.82 323 989 328 0.828 241 421 139 98 133 0.604 14320 chr15 101113950 101113950 A G rs12592868 LINS1 Synonymous SNV S376S 0.417 0.44 0.422 150 490 169 0.385 124 106 40 25 30 Benign 6.605 14321 chr3 46245643 46245643 C G rs61755291 CCR1 Synonymous SNV L54L 0.009 0.016 0.01 5 11 6 0.013 3 1 0 0 0 Benign 0.435 14322 chr3 57138419 57138419 G A rs6780995 IL17RD Nonsynonymous SNV T255M 0.68 0.617 0.663 253 798 237 0.649 195 272 78 65 84 20.7 14323 chr15 101114418 101114418 G A rs8039437 LINS1 Synonymous SNV F220F 0.411 0.427 0.422 147 482 164 0.377 124 106 40 25 30 Benign 5.54 14324 chr12 7527124 7527124 A G rs35480970 CD163L1 Nonsynonymous SNV M1118T 0.055 0.06 0.054 23 64 23 0.059 16 2 2 3 1 2.63 14325 chr3 46399208 46399208 G A rs1799864 CCR2 Nonsynonymous SNV V64I 0.105 0.135 0.177 34 123 52 0.087 52 6 0 5 3 protective 10.6 14326 chr12 98927830 98927830 C G rs17459334 TMPO Nonsynonymous SNV Q599E 0.146 0.159 0.071 39 171 61 0.1 21 10 3 0 0 Benign 15.67 14327 chr15 101120963 101120963 T C rs11247226 LINS1 Nonsynonymous SNV I29V 0.417 0.44 0.418 150 490 169 0.385 123 106 40 24 30 Benign 0.001 14328 chr13 114057712 114057712 G A rs9603837 LOC101928841 Nonsynonymous SNV T1598M 0.663 0.633 0 247 778 243 0.633 0 254 75 0 75 12.04 14329 chr3 57139972 57139972 A G rs1545981 IL17RD Synonymous SNV H220H 0.891 0.891 0.864 344 1046 342 0.882 254 468 152 110 151 0.333 14330 chr13 103397387 103397387 T G rs7339187 CCDC168 Nonsynonymous SNV Q1887P 0.03 0.031 0.024 16 35 12 0.041 7 0 0 0 0 3.029 14331 chr13 114057822 114057822 G A rs9604099 LOC101928841 Synonymous SNV P1561P 0.663 0.633 0 247 778 243 0.633 0 254 75 0 75 2.45 14332 chr3 46449978 46449978 A C rs11266744 CCRL2 Synonymous SNV G148G 0.487 0.419 0.473 182 572 161 0.467 139 140 34 34 34 0.009 14333 chr15 101529594 101529594 G A rs2412000 LRRK1 Synonymous SNV P251P 0.078 0.102 0.068 46 92 39 0.118 20 3 1 0 4 8.575 14334 chr3 57303684 57303684 A G rs11544593 APPL1 Nonsynonymous SNV E700G 0.089 0.068 0.116 53 105 26 0.136 34 6 0 0 4 23.5 14335 chr13 114058467 114058467 C T rs7991513 LOC101928841 Synonymous SNV E1346E 0.246 0.219 0 109 289 84 0.279 0 119 29 0 40 1.303 14336 chr15 101562793 101562793 G A rs11247253 LRRK1 Synonymous SNV S686S 0.832 0.854 0.881 335 977 328 0.859 259 414 141 118 146 10.75 14337 chr12 7548996 7548996 C G rs4072796 CD163L1 Nonsynonymous SNV G592A 0.032 0.026 0.037 11 37 10 0.028 11 0 0 0 0 0.002 14338 chr3 46450070 46450070 T A rs3204849 CCRL2 Nonsynonymous SNV F179Y 0.486 0.419 0.473 181 571 161 0.464 139 140 34 34 34 7.214 14339 chr13 114058884 114058884 T C rs7334623 LOC101928841 Synonymous SNV P1207P 0.665 0.635 0.007 247 781 244 0.633 2 255 75 1 75 3.217 14340 chr15 101591923 101591923 A G rs4965778 LRRK1 Synonymous SNV T1149T 0.456 0.411 0.449 172 535 158 0.441 132 122 31 29 31 0.003 14341 chr3 57494138 57494138 A C rs6445902 DNAH12 Nonsynonymous SNV D224E 0.175 0.164 0.167 59 205 63 0.151 49 15 3 2 3 Benign 7.349 14342 chr13 114059327 114059327 C T rs73571474 LOC101928841 Nonsynonymous SNV G1060R 0.122 0.094 0 46 143 36 0.118 0 6 3 0 3 7.746 14343 chr15 101606889 101606889 G A rs2924835 LRRK1 Nonsynonymous SNV G1938D 0.355 0.346 0.395 145 417 133 0.372 116 80 23 22 26 11.02 14344 chr12 7549009 7549009 C T rs4072797 CD163L1 Nonsynonymous SNV D588N 0.032 0.026 0.037 11 37 10 0.028 11 0 0 0 0 0.332 14345 chr13 103450973 103450973 T C rs7994595 POGLUT2 Synonymous SNV P16P 0.047 0.055 0.041 17 55 21 0.044 12 1 0 0 0 0.864 14346 chr3 46480801 46480801 A G rs9110 LTF Synonymous SNV L588L 0.256 0.302 0.306 110 300 116 0.282 90 37 15 10 14 0.743 14347 chr13 114060985 114060985 - AAG rs35896628 LOC101928841 P506_C507insS 0.664 0.633 0 247 779 243 0.633 0 254 75 0 75 14348 chr3 57542173 57542173 C T rs2241988 PDE12 Nonsynonymous SNV R23W 0.513 0.534 0.486 198 602 205 0.508 143 152 57 32 53 23.2 14349 chr13 114061272 114061272 C T rs57472419 LOC101928841 Synonymous SNV G411G 0.124 0.094 0 46 145 36 0.118 0 7 3 0 3 7.282 14350 chr3 46484964 46484964 G A rs1042073 LTF Synonymous SNV N497N 0.256 0.331 0.337 111 301 127 0.285 99 44 23 14 13 6.769 14351 chr15 101606890 101606890 C A rs2959197 LRRK1 Synonymous SNV G1938G 0.355 0.346 0.395 145 417 133 0.372 116 80 23 22 26 12.01 14352 chr13 103504517 103504517 T C rs1047768 BIVM-ERCC5, ERCC5 Synonymous SNV H46H 0.546 0.534 0.507 199 641 205 0.51 149 173 58 35 50 Benign 0.012 14353 chr3 46488854 46488854 T C rs2239692 LTF Synonymous SNV G372G 0.106 0.12 0.109 59 124 46 0.151 32 6 4 0 1 6.883 14354 chr13 114061307 114061307 T C rs142336709 LOC101928841 Nonsynonymous SNV T400A 0.032 0.026 0 8 37 10 0.021 0 0 0 0 0 2.782 14355 chr13 103515085 103515085 G C rs2227869 BIVM-ERCC5, ERCC5 Nonsynonymous SNV C529S 0.052 0.049 0.051 17 61 19 0.044 15 1 0 0 0 Benign 0.002 14356 chr15 101717680 101717680 G T rs8024370 CHSY1 Synonymous SNV T774T 0.589 0.578 0.667 249 691 222 0.638 196 209 67 61 86 Benign 0.341 14357 chr13 103410782 103410782 T C rs1375719 CCDC168 Nonsynonymous SNV I96V 0.419 0.443 0.408 158 492 170 0.405 120 103 40 30 31 1.63 14358 chr13 114303764 114303764 C T rs17852631 ATP4B Synonymous SNV A267A 0.174 0.182 0.231 62 204 70 0.159 68 17 4 7 7 10.43 14359 chr3 46490366 46490366 G A rs2230895 LTF Synonymous SNV I356I 0.073 0.104 0.109 39 86 40 0.1 32 4 3 1 0 9.535 14360 chr3 58081888 58081888 T C rs1522384 FLNB Synonymous SNV S309S 0.331 0.318 0.354 113 389 122 0.29 104 64 22 19 19 Benign 7.422 14361 chr15 101718097 101718097 C G rs28364839 CHSY1 Synonymous SNV V635V 0.334 0.313 0.381 133 392 120 0.341 112 65 16 15 24 Benign 1.95 14362 chr13 103410914 103410914 A T rs12855785 CCDC168 Nonsynonymous SNV C82S 0.414 0.443 0.432 157 486 170 0.403 127 102 40 31 31 4.421 14363 chr3 46490474 46490474 G A rs2230894 LTF Synonymous SNV V320V 0.131 0.177 0.16 69 154 68 0.177 47 8 8 1 1 8.437 14364 chr13 114309226 114309226 G A rs11164142 ATP4B Synonymous SNV Y48Y 0.337 0.331 0.282 145 396 127 0.372 83 77 22 16 26 9.559 14365 chr3 58112440 58112440 A G rs2362903 FLNB Synonymous SNV A1391A 0.614 0.62 0.684 242 721 238 0.621 201 220 76 65 79 Benign 7.845 14366 chr15 101791359 101791359 C G rs7176149 CHSY1 Synonymous SNV R101R 0.225 0.206 0.207 90 264 79 0.231 61 33 5 7 11 Benign 11.78 14367 chr12 75728540 75728540 G A GLIPR1L1 Stop gain W11X 0.002 0.016 0 0 2 6 0 0 0 0 0 0 35 14368 chr15 102192540 102192540 T G rs675436 TM2D3 Synonymous SNV R9R 0.33 0.344 0.371 135 388 132 0.346 109 71 25 23 23 4.824 14369 chr3 46501213 46501213 T C rs1126478 LTF Nonsynonymous SNV K3R 0.274 0.344 0.344 120 322 132 0.308 101 49 25 15 14 0.001 14370 chr3 58183636 58183636 G A rs35677470 DNASE1L3 Nonsynonymous SNV R176C 0.047 0.029 0.014 18 55 11 0.046 4 0 0 0 0 34 14371 chr15 102192548 102192548 A C rs2939587 TM2D3 Nonsynonymous SNV L6R 0.989 0.987 0.997 387 1161 379 0.992 293 574 187 146 192 0.108 14372 chr3 46501268 46501268 C T rs1126477 LTF Nonsynonymous SNV A29T 0.21 0.266 0.293 90 246 102 0.231 86 30 16 10 10 0.002 14373 chr15 102224341 102224341 G A rs12901450 TARS3 Synonymous SNV S529S 0.369 0.359 0.327 131 433 138 0.336 96 88 21 13 24 12.34 14374 chr13 114524944 114524944 A G rs7400002 GAS6 Synonymous SNV A623A 0.237 0.203 0.265 104 278 78 0.267 78 28 5 10 22 0.596 14375 chr13 103514543 103514543 G A rs529430698 BIVM-ERCC5, ERCC5 Nonsynonymous SNV M348I 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 0.118 14376 chr15 102264304 102264304 G C rs1143138 TARS3 Nonsynonymous SNV A96G 0.401 0.404 0.299 158 471 155 0.405 88 93 29 18 29 12.6 14377 chr3 58382846 58382846 C T rs3191903 PXK Synonymous SNV C164C 0.453 0.417 0.425 154 532 160 0.395 125 117 34 29 33 15.36 14378 chr13 114530114 114530114 G A rs1803628 GAS6 Synonymous SNV C444C 0.08 0.068 0.082 24 94 26 0.062 24 2 0 1 1 1.245 14379 chr15 21936701 21936709 ATTTAAGAA - rs369269486 LOC646214 0 0 0.296 0 0 0 0 87 0 0 0 0 14380 chr12 91347561 91347581 TCTTCCTCCTCATCTTCGACC - rs374196591 CCER1 V314_E320del 0.016 0.023 0.003 3 19 9 0.008 1 0 0 0 0 14381 chr15 21936714 21936714 C T rs7165094 LOC646214 0 0 0.119 0 0 0 0 35 0 0 0 0 15.21 14382 chr3 58395863 58395863 A G rs56384862 PXK Nonsynonymous SNV K344R 0.453 0.417 0.429 154 532 160 0.395 126 117 34 30 33 19.01 14383 chr15 21936770 21936770 T C rs2203858 LOC646214 0 0 0.262 0 0 0 0 77 0 0 0 0 5.341 14384 chr15 21936861 21936861 T C rs8039654 LOC646214 0 0 0.224 0 0 0 0 66 0 0 0 0 2.353 14385 chr15 21936913 21936913 A G rs4984137 LOC646214 0 0 0.35 0 0 0 0 103 0 0 1 0 2.961 14386 chr3 58410554 58410554 C T rs34579268 PXK Nonsynonymous SNV A377V 0.455 0.414 0.422 155 534 159 0.397 124 118 33 29 34 3.806 14387 chr15 21936992 21936992 C T rs4984136 LOC646214 0 0 0.476 0 0 0 0 140 0 0 8 0 0.876 14388 chr13 115002305 115002305 G A rs8002514 CDC16 Synonymous SNV Q45Q 0.238 0.258 0.279 107 279 99 0.274 82 32 15 7 12 0.255 14389 chr15 21937528 21937528 G A rs60162183 LOC646214 0 0 0.248 0 0 0 0 73 0 0 0 0 2.362 14390 chr13 115004914 115004914 C T rs2296971 CDC16 Synonymous SNV D16D 0.307 0.331 0.34 131 360 127 0.336 100 52 20 16 16 13.85 14391 chr15 21937536 21937536 G A rs57833495 LOC646214 0 0 0.252 0 0 0 0 74 0 0 0 0 0.43 14392 chr13 101289911 101289911 G A rs141440152 TMTC4 Synonymous SNV L164L 0.009 0.013 0.003 6 10 5 0.015 1 0 0 0 0 5.895 14393 chr3 58416535 58416535 C T rs1126551 PDHB Synonymous SNV G128G 0.457 0.414 0.425 155 536 159 0.397 125 119 33 29 34 Benign 13.07 14394 chr12 9265016 9265016 G C rs56202499 A2M Synonymous SNV V129V 0.026 0.021 0.024 10 30 8 0.026 7 1 0 0 0 Benign 5.575 14395 chr15 21937553 21937553 T C rs28626937 LOC646214 0 0 0.262 0 0 0 0 77 0 0 0 0 1 14396 chr13 115004935 115004935 T C rs2296970 CDC16 Synonymous SNV P23P 0.302 0.32 0.34 126 355 123 0.323 100 52 20 16 16 0.024 14397 chr15 21937592 21937592 T C rs4984134 LOC646214 0 0 0.755 0 0 0 0 222 0 0 75 0 0.33 14398 chr13 101322536 101322536 C A rs118140449 TMTC4 0.009 0.013 0.003 6 10 5 0.015 1 0 0 0 0 10.3 14399 chr12 85432040 85432040 T A rs7312075 LRRIQ1 Nonsynonymous SNV I29N 0.072 0.06 0.071 40 85 23 0.103 21 3 2 0 2 11.8 14400 chr3 58416538 58416538 T C rs4264746 PDHB Synonymous SNV R127R 1 1 0.993 386 1174 384 0.99 292 587 192 145 191 Benign 1.504 14401 chr15 21937658 21937658 C T rs28502402 LOC646214 0 0 0.269 0 0 0 0 79 0 0 0 0 0.975 14402 chr13 115030714 115030714 T C rs8809 CDC16 Synonymous SNV I482I 0.238 0.258 0.279 107 279 99 0.274 82 32 15 8 12 8.168 14403 chr15 21937747 21937747 - AGAACTTTA rs566187348 LOC646214 0 0 0.316 0 0 0 0 93 0 0 1 0 14404 chr15 21937809 21937809 T C rs113298770 LOC646214 0 0 0.048 0 0 0 0 14 0 0 0 0 0.678 14405 chr3 58552950 58552950 C T rs1139701 FAM107A Synonymous SNV Q104Q 0.029 0.031 0.02 11 34 12 0.028 6 0 0 0 0 13.12 14406 chr15 21937964 21937964 A G rs28428761 LOC646214 0 0 0.228 0 0 0 0 67 0 0 0 0 5.698 14407 chr13 115064423 115064423 G A rs3752107 UPF3A Nonsynonymous SNV A118T 0.072 0.094 0.068 36 84 36 0.092 20 3 3 1 1 0.011 14408 chr15 21938049 21938049 C T rs2343906 LOC646214 0 0 0.741 0 0 0 0 218 0 0 73 0 14.53 14409 chr3 58572625 58572625 G A rs80312641 FAM107A Synonymous SNV S13S 0.119 0.13 0.167 47 140 50 0.121 49 3 3 5 4 17.96 14410 chr13 108518716 108518727 GCTGCTGCTGCT - rs3832903 FAM155A Q73_Q76del 0.032 0.018 0.037 6 38 7 0.015 11 0 0 0 0 14411 chr3 46755937 46755937 C T rs12492868 PRSS50 Synonymous SNV T175T 0.193 0.167 0.177 68 226 64 0.174 52 19 5 6 5 16.06 14412 chr15 22867570 22867570 C T rs62009514 TUBGCP5 Synonymous SNV R882R 0.02 0.016 0.024 13 24 6 0.033 7 0 1 0 2 14.94 14413 chr12 93100895 93100895 T A rs71456571 C12orf74 Nonsynonymous SNV L163Q 0.046 0.055 0.051 22 54 21 0.056 15 1 0 0 0 3.296 14414 chr13 109496813 109496813 T C rs16973313 MYO16 Nonsynonymous SNV M407T 0.102 0.102 0.088 44 120 39 0.113 26 4 0 1 2 0.003 14415 chr13 115090019 115090019 G A rs3813131 CHAMP1 Synonymous SNV P234P 0.087 0.122 0.088 47 102 47 0.121 26 6 5 2 1 0.122 14416 chr15 22939192 22939192 G A rs11633474 CYFIP1 Synonymous SNV P184P 0.584 0.573 0.52 212 686 220 0.544 153 201 66 40 54 7.603 14417 chr3 46759010 46759010 T G rs34788938 PRSS50 Nonsynonymous SNV Q75P 0.125 0.109 0.122 43 147 42 0.11 36 7 3 2 1 21.4 14418 chr3 58625875 58625875 C A rs33966924 FAM3D Nonsynonymous SNV A118S 0.148 0.167 0.163 75 174 64 0.192 48 17 5 4 8 0.142 14419 chr15 22960868 22960868 G C rs2289818 CYFIP1 Synonymous SNV L256L 0.276 0.299 0.259 125 324 115 0.321 76 56 21 9 24 11.37 14420 chr13 115090193 115090193 G A rs3813133 CHAMP1 Synonymous SNV P292P 0.077 0.107 0.082 44 90 41 0.113 24 4 5 1 1 7.215 14421 chr13 106118612 106118612 C T rs45476401 DAOA-AS1 0.046 0.039 0.048 14 54 15 0.036 14 0 0 0 0 7.748 14422 chr15 22969232 22969232 G A rs7170637 CYFIP1 Nonsynonymous SNV G389S 0.204 0.203 0.228 97 240 78 0.249 67 28 11 5 11 19.37 14423 chr13 109661359 109661359 C G rs3825491 MYO16 Nonsynonymous SNV P853A 0.348 0.328 0.333 133 409 126 0.341 98 72 24 13 23 23.3 14424 chr13 115091399 115091399 T C rs9525332 CHAMP1 Synonymous SNV S694S 0.077 0.107 0.082 44 90 41 0.113 24 4 5 1 1 0.062 14425 chr3 46783959 46783959 T C rs58830807 PRSS45P 0.175 0.122 0.153 60 205 47 0.154 45 22 3 3 3 0.001 14426 chr3 61975382 61975382 T C rs62620047 PTPRG Nonsynonymous SNV Y92H 0.18 0.151 0.204 66 211 58 0.169 60 19 4 2 3 13.73 14427 chr13 19751544 19751544 C T rs2297224 TUBA3C Synonymous SNV T193T 0.289 0.237 0.282 115 339 91 0.295 83 38 12 9 17 12.04 14428 chr15 23021238 23021238 C T rs7170838 NIPA2 Synonymous SNV K33K 0.218 0.201 0.272 90 256 77 0.231 80 33 6 9 12 15.13 14429 chr3 46784467 46784467 G A rs58943210 PRSS45P 0.175 0.122 0.153 59 205 47 0.151 45 22 3 3 3 0.024 14430 chr13 103343230 103343230 C G rs149948690 METTL21C Nonsynonymous SNV R72P 0.01 0.01 0.014 1 12 4 0.003 4 0 0 0 0 13.47 14431 chr13 20224387 20224387 A G rs9578176 MPHOSPH8 Synonymous SNV A521A 0.147 0.143 0.129 51 173 55 0.131 38 12 3 3 4 0.257 14432 chr3 62189189 62189189 G A rs2292245 PTPRG Nonsynonymous SNV G574S 0.191 0.159 0.18 82 224 61 0.21 53 22 5 4 8 5.729 14433 chr15 23052632 23052632 T C rs11263683 NIPA1 Synonymous SNV T72T 0.719 0.724 0.728 297 844 278 0.762 214 301 103 77 116 Benign 0.293 14434 chr15 23811592 23811592 C T rs2239669 MKRN3 Synonymous SNV P221P 0.273 0.279 0.364 139 321 107 0.356 107 39 13 18 23 8.067 14435 chr15 23889739 23889739 G T rs2233070 MAGEL2 Nonsynonymous SNV L1051I 0.031 0.031 0.037 17 36 12 0.044 11 0 0 0 0 Benign/Likely benign 10.59 14436 chr3 62189437 62189437 G C rs17634074 PTPRG Synonymous SNV T656T 0.136 0.117 0.116 61 160 45 0.156 34 9 3 1 3 3.126 14437 chr15 23890780 23890780 C T rs763458440 MAGEL2 Nonsynonymous SNV A704T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.121 14438 chr13 109793246 109793246 G C rs80260507 MYO16 Synonymous SNV P1562P 0.12 0.133 0.044 56 141 51 0.144 13 6 6 0 6 3.577 14439 chr15 24921771 24921771 G C rs1563102 NPAP1 Nonsynonymous SNV G253R 0.336 0.383 0.282 138 394 147 0.354 83 68 25 11 28 9.651 14440 chr3 62229553 62229553 C T rs1352882 PTPRG Synonymous SNV I816I 0.999 1 0.986 389 1173 384 0.997 290 586 192 144 194 17.38 14441 chr3 63968083 63968083 A G rs61736574 ATXN7 Nonsynonymous SNV N180S 0.031 0.018 0.014 22 36 7 0.056 4 0 0 0 0 0.001 14442 chr13 20411701 20411701 C T rs7988277 ZMYM5 Nonsynonymous SNV R378H 0.156 0.146 0.068 53 183 56 0.136 20 15 3 2 5 8.501 14443 chr15 25219512 25219512 T C rs705 SNHG14 0.424 0.471 0.449 177 498 181 0.454 132 106 45 29 42 Likely benign 2.066 14444 chr15 25230562 25230562 G A rs1991275 PWAR5 0 0 0.007 0 0 0 0 2 0 0 0 0 1.1 14445 chr12 78334194 78334194 A G rs1382639 NAV3 Synonymous SNV L113L 0.083 0.104 0.109 39 97 40 0.1 32 9 1 2 1 7.831 14446 chr3 47044247 47044247 C T NBEAL2 Nonsynonymous SNV A1771V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 18.58 14447 chr13 110435953 110435953 A G rs4773092 IRS2 Synonymous SNV C816C 0.532 0.531 0.599 202 625 204 0.518 176 176 52 51 54 0.002 14448 chr15 25232015 25232015 - CA PWAR5 0 0 0.007 0 0 0 0 2 0 0 0 0 14449 chr13 20413021 20413021 T C rs41292167 ZMYM5 Nonsynonymous SNV T231A 0.146 0.138 0.126 50 171 53 0.128 37 12 3 2 4 9.378 14450 chr13 103384824 103384824 G A rs9300756 CCDC168 Nonsynonymous SNV R6075C 0.516 0.484 0.49 191 606 186 0.49 144 151 48 38 45 10.03 14451 chr15 25232021 25232026 GTGCAC - PWAR5 0 0 0.007 0 0 0 0 2 0 0 0 0 14452 chr3 63981424 63981424 A G rs1053339 ATXN7 Synonymous SNV Q497Q 0.033 0.018 0.014 22 39 7 0.056 4 0 0 0 0 3.886 14453 chr15 25277788 25277788 A G rs1030389 PWAR6 0 0 0.401 0 0 0 0 118 0 0 26 0 5.1 14454 chr15 25307562 25307562 A G rs7402542 SNORD116-5, SNORD116-7 0 0 0.983 0 0 0 0 289 0 0 142 0 3.578 14455 chr3 63982082 63982082 G A rs3774729 ATXN7 Nonsynonymous SNV V717M 0.377 0.286 0.313 124 443 110 0.318 92 80 18 15 21 Likely benign 7.162 14456 chr12 88514835 88514835 T C rs200211587 CEP290 Nonsynonymous SNV D433G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 14457 chr13 20425911 20425911 C A rs9579717 ZMYM5 Nonsynonymous SNV C137F 0.146 0.138 0.126 50 171 53 0.128 37 12 3 2 4 15.33 14458 chr15 25324141 25324141 C T rs4344720 SNHG14 0 0 0.585 0 0 0 0 172 0 0 55 0 4.196 14459 chr13 110827574 110827574 T A rs874203 COL4A1 Synonymous SNV R1063R 0.285 0.299 0.313 105 335 115 0.269 92 64 20 15 18 Benign 2.125 14460 chr15 25324211 25324211 A G rs17115176 SNORD116-13 0 0 0.007 0 0 0 0 2 0 0 0 0 0.379 14461 chr15 25330550 25330550 T A rs3803328 SNORD116-18 0 0 0.605 0 0 0 0 178 0 0 56 0 2.852 14462 chr13 110827580 110827580 C T rs874204 COL4A1 Synonymous SNV G1061G 0.285 0.299 0.316 105 335 115 0.269 93 64 20 15 18 Benign 10.25 14463 chr3 64133350 64133350 A G rs27673 PRICKLE2 Synonymous SNV D272D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 0.002 14464 chr15 25332718 25332718 T C rs6576404 SNHG14 0 0 0.973 0 0 0 0 286 0 0 140 0 0.1 14465 chr13 20425948 20425948 T C rs9579718 ZMYM5 Nonsynonymous SNV I125V 0.146 0.138 0.126 50 171 53 0.128 37 12 3 2 4 10.56 14466 chr3 66419942 66419942 A G rs1129179 SLC25A26 Synonymous SNV A115A 0.171 0.193 0.184 52 201 74 0.133 54 21 7 6 3 Benign 8.58 14467 chr15 25421995 25421995 C A rs72546369 SNORD115-4 0 0 0.014 0 0 0 0 4 0 0 0 0 7.066 14468 chr13 110833702 110833702 C T rs16975492 COL4A1 Synonymous SNV P710P 0.284 0.305 0.316 101 333 117 0.259 93 62 22 16 17 Benign 8.077 14469 chr15 25427877 25427877 A G rs2739844 SNHG14 0 0 0.109 0 0 0 0 32 0 0 2 0 0.056 14470 chr15 25429098 25429098 C T rs145087430 SNHG14 0 0 0.014 0 0 0 0 4 0 0 0 0 0.242 14471 chr13 110850842 110850842 A G rs995224 COL4A1 Synonymous SNV P419P 0.252 0.229 0.201 116 296 88 0.297 59 40 11 5 20 Benign 0.039 14472 chr3 66419956 66419956 C T rs13874 SLC25A26 Nonsynonymous SNV T120M 0.44 0.419 0.432 162 516 161 0.415 127 121 30 27 38 Benign 12.86 14473 chr15 25429458 25429458 A G rs2011153 SNORD115-8 0 0 0.102 0 0 0 0 30 0 0 2 0 2.044 14474 chr12 7045892 7045906 CAGCAGCAGCAGCAG - rs377147612 ATN1 Q498_Q502del 0.086 0.081 0.02 23 101 31 0.059 6 2 0 1 1 14475 chr15 25432522 25432522 A T rs2739852 SNHG14 0 0 0.02 0 0 0 0 6 0 0 1 0 1.099 14476 chr12 7045906 7045906 - CAGCAG ATN1 Q502_H503insQQ 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14477 chr15 25434586 25434586 G T rs146068240 SNORD115-11, SNORD115-29, SNORD115-36, SNORD115-43 0 0 0.014 0 0 0 0 4 0 0 0 0 0.934 14478 chr3 66430811 66430811 T G rs2279290 LRIG1 Nonsynonymous SNV Q1053P 0.18 0.195 0.18 54 211 75 0.138 53 21 7 6 3 Benign 19.98 14479 chr3 47618953 47618953 C A rs3732530 CSPG5 Nonsynonymous SNV G50V 0.672 0.669 0.629 269 789 257 0.69 185 259 82 58 94 18.32 14480 chr15 25451416 25451416 T C rs79423059 SNORD115-20, SNORD115-21 0 0 0.014 0 0 0 0 4 0 0 0 0 1.298 14481 chr15 25451418 25451418 A G rs139777972 SNORD115-20, SNORD115-21 0 0 0.014 0 0 0 0 4 0 0 0 0 2.24 14482 chr15 25479337 25479337 A G rs2714758 SNHG14 0 0 0.044 0 0 0 0 13 0 0 1 0 1.484 14483 chr13 21086599 21086599 G A rs7139733 CRYL1 Synonymous SNV N44N 0.169 0.214 0.17 64 198 82 0.164 50 11 7 6 4 4.638 14484 chr3 66433676 66433676 A G rs900171 LRIG1 Synonymous SNV L741L 0.6 0.563 0.575 234 704 216 0.6 169 212 59 52 70 Benign 6.371 14485 chr3 48419897 48419897 C T rs6442117 FBXW12 Nonsynonymous SNV R147W 0.554 0.581 0.616 219 650 223 0.562 181 184 59 58 60 0.383 14486 chr15 25481259 25481259 C T rs147116424 SNORD115-11, SNORD115-29, SNORD115-36, SNORD115-43 0 0 0.014 0 0 0 0 4 0 0 0 0 12.04 14487 chr13 111109289 111109289 C G rs28660620 COL4A2-AS2 Nonsynonymous SNV Q261H 0.111 0.104 0 49 130 40 0.126 0 1 0 0 0 0.677 14488 chr15 25488786 25488786 T G rs2719918 SNORD115-21, SNORD115-40 0 0 0.037 0 0 0 0 11 0 0 1 0 2.268 14489 chr3 66444615 66444615 G A rs6793110 LRIG1 Synonymous SNV S439S 0.202 0.219 0.231 60 237 84 0.154 68 23 8 8 5 Benign 14.49 14490 chr15 25488788 25488788 C T rs72546400 SNORD115-21, SNORD115-40 0 0 0.01 0 0 0 0 3 0 0 0 0 5.978 14491 chr13 111109460 111109460 - GTCTGCGTGGG rs778604396 COL4A2-AS2 Frameshift insertion M204Ifs*50 0.008 0.005 0 5 9 2 0.013 0 1 0 0 1 14492 chr3 66550756 66550756 G C rs1403625 LRIG1 Nonsynonymous SNV L26V 0.952 0.974 0.881 373 1118 374 0.956 259 550 185 125 184 Benign 6.602 14493 chr15 25490518 25490518 T C rs1969608 SNHG14 0 0 0.031 0 0 0 0 9 0 0 1 0 0.106 14494 chr15 25925094 25925094 C G rs3816800 ATP10A Nonsynonymous SNV R1298S 0.468 0.427 0.497 163 549 164 0.418 146 126 33 34 27 6.714 14495 chr3 48726170 48726170 T G rs150229636 IP6K2 Nonsynonymous SNV N273H 0.014 0.023 0.01 8 17 9 0.021 3 1 0 0 0 25.9 14496 chr13 21442784 21442784 T C rs201940605 XPO4 Synonymous SNV L42L 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 9.487 14497 chr13 111109461 111109461 A G rs9515215 COL4A2-AS2 Nonsynonymous SNV M204T 0.131 0.143 0.024 49 154 55 0.126 7 58 20 3 17 2.995 14498 chr3 66550762 66550762 G C rs1403626 LRIG1 Nonsynonymous SNV L24V 0.954 0.979 0.874 375 1120 376 0.962 257 551 186 124 185 Benign 8.908 14499 chr15 25926186 25926186 G A rs2076743 ATP10A Synonymous SNV A1176A 0.603 0.589 0.616 228 708 226 0.585 181 208 70 55 65 1.281 14500 chr12 95603098 95603098 G A rs17023760 FGD6 Synonymous SNV L654L 0.106 0.099 0.085 33 125 38 0.085 25 10 0 0 1 0.524 14501 chr3 49160436 49160436 C G rs141317511 LAMB2 Nonsynonymous SNV G1425A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Uncertain significance 24.8 14502 chr15 25961964 25961964 A G rs10873607 ATP10A Synonymous SNV P563P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.037 14503 chr12 95604547 95604547 C T rs4762288 FGD6 Synonymous SNV G171G 0.106 0.099 0.085 33 125 38 0.085 25 10 0 0 1 0.286 14504 chr3 69038088 69038088 A G rs13085120 EOGT Synonymous SNV Y304Y 0.241 0.24 0.214 90 283 92 0.231 63 30 12 4 13 15.09 14505 chr15 27182357 27182357 T C rs140682 GABRA5 Synonymous SNV V202V 0.501 0.5 0.466 192 588 192 0.492 137 152 51 37 51 1.631 14506 chr12 95604664 95604664 A G rs4762289 FGD6 Synonymous SNV V132V 0.106 0.099 0.085 33 125 38 0.085 25 10 0 0 1 0.197 14507 chr3 69096614 69096614 G A rs2292199 TMF1 Synonymous SNV S414S 0.753 0.75 0.782 301 884 288 0.772 230 332 108 88 120 4.316 14508 chr15 27188459 27188459 C T rs140685 GABRA5 Synonymous SNV A325A 0.568 0.557 0.565 221 667 214 0.567 166 194 63 49 63 17.57 14509 chr13 111119396 111119396 G C rs3803230 COL4A2 Nonsynonymous SNV G683A 0.137 0.138 0.197 54 161 53 0.138 58 11 4 1 3 Benign 12.72 14510 chr15 27772676 27772676 C T rs140679 GABRG3 Synonymous SNV T321T 0.502 0.549 0.551 205 589 211 0.526 162 148 58 45 57 16.51 14511 chr3 69151152 69151152 C A rs10489 ARL6IP5 Synonymous SNV I113I 0.036 0.036 0.037 16 42 14 0.041 11 0 0 0 1 14.43 14512 chr12 95681597 95681597 G A rs10507051 VEZT Nonsynonymous SNV V352I 0.102 0.096 0.065 33 120 37 0.085 19 9 0 0 1 24 14513 chr13 21620085 21620085 T C rs7317471 LATS2 Synonymous SNV K27K 0.825 0.857 0.806 340 968 329 0.872 237 401 143 95 149 0.013 14514 chr13 111160304 111160304 G A rs391859 COL4A2 Synonymous SNV A1539A 0.135 0.141 0.163 65 158 54 0.167 48 12 2 0 7 Benign 11.22 14515 chr15 28096538 28096538 A G rs1800419 OCA2 Synonymous SNV A752A 0.544 0.508 0.51 187 639 195 0.479 150 169 43 43 46 Benign 5.629 14516 chr3 69167851 69167851 G T rs145387235 LMOD3 Nonsynonymous SNV P552H 0.015 0.021 0.027 9 18 8 0.023 8 0 0 0 0 Benign 26.5 14517 chr15 28116336 28116336 C T rs1800418 OCA2 Synonymous SNV S712S 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 Benign 11.76 14518 chr3 49690627 49690627 G A rs35762866 BSN Nonsynonymous SNV G1213D 0.112 0.13 0.088 36 132 50 0.092 26 9 3 3 1 0.679 14519 chr15 28116379 28116379 A G rs1800417 OCA2 Nonsynonymous SNV I698T 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 Benign 0.342 14520 chr3 69230061 69230061 G A rs9831516 FRMD4B Nonsynonymous SNV S947L 0.977 0.979 0.976 377 1147 376 0.967 287 561 184 141 184 27.8 14521 chr15 28211921 28211921 G A rs1800411 OCA2 Synonymous SNV C493C 0.59 0.617 0.599 226 693 237 0.579 176 200 71 60 64 Benign 4.55 14522 chr15 28235773 28235773 C T rs1800404 OCA2 Synonymous SNV A355A 0.733 0.724 0.731 280 861 278 0.718 215 318 100 82 101 Benign 13.43 14523 chr3 69230801 69230801 G A rs9836305 FRMD4B Synonymous SNV H700H 0.977 0.979 0.976 377 1147 376 0.967 287 561 184 141 184 7.643 14524 chr13 21732175 21732175 G T rs17279819 SKA3 Nonsynonymous SNV D335E 0.078 0.063 0.075 34 92 24 0.087 22 1 3 1 2 5.001 14525 chr15 29415560 29415560 G A rs3751562 FAM189A1 Synonymous SNV D534D 0.842 0.841 0.806 335 988 323 0.859 237 418 133 98 144 9.012 14526 chr3 69245454 69245454 T C rs9310141 FRMD4B Nonsynonymous SNV T396A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.8 14527 chr15 29415698 29415698 A G rs3751563 FAM189A1 Synonymous SNV D488D 0.902 0.906 0.878 357 1059 348 0.915 258 479 156 115 163 5.916 14528 chr3 49866584 49866584 T G rs35129566 TRAIP Synonymous SNV T454T 0.226 0.188 0.248 92 265 72 0.236 73 35 4 10 8 4.124 14529 chr13 21732193 21732193 C T rs17345571 SKA3 Synonymous SNV S329S 0.078 0.063 0.075 35 92 24 0.09 22 1 3 1 2 14.14 14530 chr15 29418520 29418520 C T rs2256273 FAM189A1 Nonsynonymous SNV R393H 0.802 0.826 0.759 307 941 317 0.787 223 383 131 86 120 10.01 14531 chr12 72057256 72057258 GCT - rs772911355 ZFC3H1 S45del 0 0 0 0 0 0 0 0 0 0 0 0 14532 chr3 69246152 69246152 A G rs13059488 FRMD4B Synonymous SNV L331L 0.928 0.917 0.949 362 1089 352 0.928 279 506 160 134 169 9.312 14533 chr13 21732264 21732264 - CAAAG rs754879051 SKA3 Frameshift insertion V306Lfs*29 0.034 0.039 0.044 11 40 15 0.028 13 0 0 0 0 14534 chr3 73111368 73111368 T C rs2231924 EBLN2 Nonsynonymous SNV S46P 0.471 0.484 0.493 193 553 186 0.495 145 130 37 31 53 0.001 14535 chr15 29418573 29418573 A G rs2672680 FAM189A1 Synonymous SNV H375H 0.802 0.823 0.782 308 942 316 0.79 230 384 130 89 121 0.014 14536 chr13 111992247 111992247 C A rs35344026 TEX29 Synonymous SNV I69I 0.114 0.096 0.109 37 134 37 0.095 32 10 1 3 2 13.94 14537 chr15 29418574 29418574 T C rs2256277 FAM189A1 Nonsynonymous SNV H375R 0.802 0.823 0.776 308 941 316 0.79 228 383 130 88 121 0.001 14538 chr3 73111481 73111481 - A rs3832186 EBLN2 Frameshift insertion R84Kfs*18 0.164 0.19 0.173 76 192 73 0.195 51 17 8 2 7 14539 chr13 21746601 21746601 G - rs151272242 SKA3 Q70Kfs*7 0.095 0.112 0.068 31 112 43 0.079 20 0 0 0 0 14540 chr12 82752543 82752543 T G rs112592060 METTL25 Nonsynonymous SNV S67A 0.086 0.089 0.071 37 101 34 0.095 21 4 1 2 0 0.003 14541 chr12 7281317 7281317 C T rs10963 RBP5 Nonsynonymous SNV D19N 0.058 0.06 0.065 30 68 23 0.077 19 1 0 1 2 13.73 14542 chr15 29544656 29544656 T C rs4583203 FAM189A1 Synonymous SNV A101A 0.53 0.492 0.503 221 622 189 0.567 148 167 47 37 64 9.362 14543 chr3 73111809 73111809 A G rs2231926 EBLN2 Nonsynonymous SNV I193V 0.471 0.484 0.493 193 553 186 0.495 145 130 37 31 53 0.001 14544 chr13 21750538 21750538 G A rs61950356 SKA3 Stop gain R27X 0.098 0.104 0.085 33 115 40 0.085 25 0 0 0 0 37 14545 chr12 96728559 96728559 T C rs368598818 CDK17 Nonsynonymous SNV D19G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 14546 chr15 30008856 30008856 C A rs7166878 TJP1 Synonymous SNV A1307A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.98 14547 chr12 82752559 82752559 T G rs113882703 METTL25 Nonsynonymous SNV L72R 0.086 0.089 0.071 37 101 34 0.095 21 4 1 2 0 0.042 14548 chr15 30008889 30008889 G A rs2229518 TJP1 Synonymous SNV A1296A 0.831 0.828 0.85 328 976 318 0.841 250 409 132 107 137 11.6 14549 chr3 73111973 73111973 A G rs2231928 EBLN2 Synonymous SNV P247P 0.476 0.487 0.493 193 559 187 0.495 145 131 37 31 53 0.592 14550 chr12 968489 968489 T C rs2286006 WNK1 Synonymous SNV D493D 0.203 0.164 0.16 64 238 63 0.164 47 27 4 6 2 Benign 0.397 14551 chr15 31234064 31234064 C T rs6493352 MTMR10 Nonsynonymous SNV R648H 0.17 0.193 0.126 65 199 74 0.167 37 20 5 1 8 11.83 14552 chr3 73111998 73111998 C T rs1060584 EBLN2 Nonsynonymous SNV L256F 0.471 0.484 0.493 193 553 186 0.495 145 130 37 31 53 0.042 14553 chr12 96927637 96927637 A C rs73235078 CFAP54 Synonymous SNV G475G 0.049 0.026 0.014 11 58 10 0.028 4 1 0 0 0 0.006 14554 chr15 31330280 31330280 A G rs2288242 TRPM1 Synonymous SNV N819N 0.807 0.849 0.776 313 947 326 0.803 228 385 140 93 125 Benign 1.003 14555 chr3 73673578 73673578 G C rs6763344 PDZRN3 Synonymous SNV A133A 0.877 0.857 0.833 348 1030 329 0.892 245 455 147 108 157 5.446 14556 chr12 7476127 7476127 C A rs185520750 ACSM4 Synonymous SNV R427R 0.01 0.01 0.024 10 12 4 0.026 7 0 0 0 0 14.58 14557 chr15 31330313 31330313 A G rs12913672 TRPM1 Synonymous SNV Y808Y 0.285 0.25 0.248 103 335 96 0.264 73 49 13 11 15 Benign 0.54 14558 chr3 74413676 74413676 T C rs6549590 CNTN3 Synonymous SNV Q385Q 0.56 0.549 0.51 241 658 211 0.618 150 182 55 43 76 1.15 14559 chr15 31362352 31362352 C T rs2241493 TRPM1 Nonsynonymous SNV S71N 0.765 0.833 0.735 304 898 320 0.779 216 344 133 82 121 Benign 0.178 14560 chr13 113720476 113720476 C T rs2297192 MCF2L Synonymous SNV T253T 0.141 0.156 0.153 55 166 60 0.141 45 14 5 3 7 17.37 14561 chr12 82792666 82792666 C T rs10506872 METTL25 Synonymous SNV T121T 0.08 0.081 0.071 37 94 31 0.095 21 4 1 2 0 10.79 14562 chr3 78700901 78700901 G T rs6795556 ROBO1 Synonymous SNV T895T 0.296 0.336 0.316 120 347 129 0.308 93 52 16 12 20 0.061 14563 chr15 31369123 31369123 A G rs4779816 TRPM1 Star tloss M40T 0.804 0.831 0.803 315 944 319 0.808 236 377 131 97 128 Benign 0.044 14564 chr3 78717343 78717343 C T rs2271151 ROBO1 Synonymous SNV S544S 0.269 0.292 0.293 112 316 112 0.287 86 45 14 12 15 10.44 14565 chr13 24167505 24167505 T A rs9550987 TNFRSF19 Nonsynonymous SNV S31T 0.263 0.292 0.238 87 309 112 0.223 70 37 24 12 6 12.31 14566 chr13 111870037 111870037 T C rs2296354 ARHGEF7 Synonymous SNV D3D 0.118 0.151 0.126 51 139 58 0.131 37 6 5 3 1 4.011 14567 chr3 81643167 81643167 T C rs2172397 GBE1 Nonsynonymous SNV I334V 0.973 0.977 0.956 376 1142 375 0.964 281 555 183 135 181 7.739 14568 chr15 31453147 31453147 G A rs75638145 TRPM1 Nonsynonymous SNV R6W 0.113 0.135 0.116 53 133 52 0.136 34 10 4 3 4 27.4 14569 chr12 82792942 82792942 A G rs10506873 METTL25 Synonymous SNV P213P 0.085 0.089 0.071 39 100 34 0.1 21 4 1 2 0 0.044 14570 chr15 31515494 31515506 CTGTCGTCTGCTG - rs556657384 LOC283710 T128Sfs*163 0.032 0.026 0.034 9 37 10 0.023 10 1 0 0 1 14571 chr3 81698130 81698130 T C rs2229519 GBE1 Nonsynonymous SNV R190G 0.139 0.159 0.214 95 163 61 0.244 63 25 9 7 13 Benign 23.1 14572 chr15 31515509 31515511 GTC - rs768987468 LOC283710 M126_T127delinsI 0.032 0.026 0.034 9 37 10 0.023 10 1 0 0 1 14573 chr13 24243204 24243204 G A rs3751362 TNFRSF19 Nonsynonymous SNV V273I 0.086 0.086 0.082 29 101 33 0.074 24 5 1 1 0 0.003 14574 chr13 113201847 113201861 CGTGCATGGGAAAGT - rs748777207 TUBGCP3 D414_H418del 0.091 0.089 0.099 29 107 34 0.074 29 4 2 2 0 14575 chr15 31515513 31515519 TGTGGAG - rs776896435 LOC283710 Stop gain L124* 0.032 0.026 0.034 9 37 10 0.023 10 1 0 0 1 14576 chr15 31521506 31521507 GG - rs3835087 LOC283710 R26Afs*10 0.682 0.648 0.415 259 801 249 0.664 122 340 104 60 104 14577 chr13 113201852 113201852 A G rs75968030 TUBGCP3 Nonsynonymous SNV M417T 0.089 0.083 0.061 40 104 32 0.103 18 9 3 1 5 5.39 14578 chr3 85851246 85851246 T C rs7613828 CADM2 Synonymous SNV G37G 0.035 0.031 0.017 13 41 12 0.033 5 1 0 0 0 5.167 14579 chr15 31776211 31776213 GGC - rs199744400 OTUD7A A689del 0.703 0.641 0.667 266 825 246 0.682 196 303 85 75 101 14580 chr3 50257389 50257389 G A rs35742391 SLC38A3 Synonymous SNV E461E 0.056 0.068 0.068 22 66 26 0.056 20 2 1 2 0 10.11 14581 chr13 113201879 113201879 C T rs41288620 TUBGCP3 Nonsynonymous SNV R408H 0.094 0.089 0.099 29 110 34 0.074 29 4 2 2 0 7.781 14582 chr13 114058354 114058354 G A rs67022184 LOC101928841 Nonsynonymous SNV A1384V 0.055 0.034 0 19 65 13 0.049 0 0 0 0 0 2.994 14583 chr15 31793930 31793930 A G rs7164569 OTUD7A Synonymous SNV L378L 0.275 0.292 0.262 139 323 112 0.356 77 38 13 11 28 0.801 14584 chr3 87295049 87295049 T C rs11540913 CHMP2B Synonymous SNV T63T 0.945 0.956 0.929 377 1110 367 0.967 273 541 178 130 182 Benign 8.828 14585 chr3 50289947 50289947 G A rs183955200 GNAI2 Nonsynonymous SNV D13N 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 23.2 14586 chr13 114058368 114058368 C T rs150226658 LOC101928841 Synonymous SNV G1379G 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 2.98 14587 chr15 33010483 33010483 T C rs3207357 LOC100131315 0 0 0.044 0 0 0 0 13 0 0 0 0 6.917 14588 chr3 88188420 88188420 G A rs9813894 ZNF654 Nonsynonymous SNV S421N 0.86 0.841 0.82 334 1010 323 0.856 241 434 137 103 142 0.623 14589 chr13 24436475 24436475 C T rs11551114 MIPEP Nonsynonymous SNV R340Q 0.138 0.115 0.075 64 162 44 0.164 22 9 3 1 4 12.07 14590 chr15 33192315 33192315 G A rs764669683 FMN1 Synonymous SNV H950H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.23 14591 chr13 103705050 103705050 G A rs41281678 SLC10A2 Synonymous SNV L169L 0.009 0.023 0.007 3 10 9 0.008 2 0 0 0 0 Benign 1.615 14592 chr13 113479813 113479813 G A rs9549564 ATP11A Synonymous SNV L314L 0.256 0.255 0.221 89 301 98 0.228 65 42 14 10 10 8.972 14593 chr15 33261232 33261232 G A rs2930131 FMN1 Synonymous SNV P667P 0.559 0.589 0.507 237 656 226 0.608 149 182 68 47 74 4.326 14594 chr3 88199298 88199298 T C rs6551278 C3orf38 Synonymous SNV T32T 0.86 0.844 0.844 334 1010 324 0.856 248 434 138 104 142 8.782 14595 chr13 106142193 106142193 C A rs72549490 DAOA Synonymous SNV S47S 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 5.676 14596 chr15 33446879 33446879 G T rs1399077 FMN1 Synonymous SNV P79P 0.335 0.385 0.259 111 393 148 0.285 76 64 30 15 14 4.204 14597 chr12 88379788 88379788 C T rs11104703 C12orf50 Nonsynonymous SNV R283H 0.069 0.065 0.092 19 81 25 0.049 27 7 2 2 0 15.57 14598 chr3 88205293 88205293 A G rs116572795 C3orf38 Synonymous SNV E166E 0.026 0.029 0.024 6 31 11 0.015 7 0 0 1 0 2.655 14599 chr13 114059507 114059507 C A rs9604100 LOC101928841 Nonsynonymous SNV A1000S 0.075 0.063 0 24 88 24 0.062 0 8 1 0 2 5.689 14600 chr15 33446947 33446947 A C rs1399078 FMN1 Nonsynonymous SNV S57A 0.336 0.388 0.259 111 394 149 0.285 76 65 31 15 14 6.48 14601 chr13 114059637 114059637 C T rs56757129 LOC101928841 Synonymous SNV A956A 0.075 0.063 0 24 88 24 0.062 0 8 1 0 2 1.66 14602 chr3 89521664 89521664 G A rs17801309 EPHA3 Nonsynonymous SNV R914H 0.118 0.102 0.095 36 139 39 0.092 28 7 2 3 2 22.6 14603 chr3 50418547 50418547 G T rs56287038 CACNA2D2 Synonymous SNV I221I 0.057 0.068 0.065 21 67 26 0.054 19 2 1 2 0 10.99 14604 chr15 33872177 33872177 C T rs674155 RYR3 Synonymous SNV S423S 0.763 0.766 0.816 314 896 294 0.805 240 337 115 102 124 15.74 14605 chr15 33905410 33905410 A G rs2229116 RYR3 Nonsynonymous SNV I731V 0.205 0.198 0.187 86 241 76 0.221 55 24 6 4 10 11.01 14606 chr13 114157846 114157846 G A rs9805588 TMCO3 Synonymous SNV G263G 0.127 0.115 0.112 49 149 44 0.126 33 5 1 1 5 12.53 14607 chr13 113526066 113526066 G A rs113642918 ATP11A Synonymous SNV T1003T 0.024 0.016 0.014 3 28 6 0.008 4 0 0 0 0 Benign 6.623 14608 chr3 89521693 89521693 T C rs35124509 EPHA3 Nonsynonymous SNV W924R 0.385 0.375 0.33 135 452 144 0.346 97 81 31 19 22 18.1 14609 chr13 108863609 108863609 G A rs1805389 LIG4 Nonsynonymous SNV A3V 0.05 0.052 0.044 19 59 20 0.049 13 5 0 0 0 Benign/Likely benign 23.2 14610 chr15 33954652 33954652 C T rs4780144 RYR3 Nonsynonymous SNV R1641C 0.934 0.935 0.891 372 1096 359 0.954 262 511 168 117 177 13.41 14611 chr3 97365038 97365038 G A rs301948 EPHA6 Nonsynonymous SNV E346K 0.543 0.547 0.527 201 638 210 0.515 155 180 57 38 49 1.17 14612 chr3 50645158 50645158 A G rs2239753 CISH Synonymous SNV S219S 0.018 0.029 0.037 9 21 11 0.023 11 1 0 0 0 1.402 14613 chr15 34016274 34016274 G A rs6495228 RYR3 Nonsynonymous SNV G2270E 0.834 0.867 0.776 317 979 333 0.813 228 409 144 90 129 10.25 14614 chr13 25029218 25029218 C T rs2275660 PARP4 Nonsynonymous SNV A899T 0.767 0.799 0.759 304 901 307 0.779 223 355 123 86 114 28.2 14615 chr13 114622597 114622597 A G rs9604529 LINC00452 0.229 0.224 0.204 100 269 86 0.256 60 23 14 6 10 0.437 14616 chr3 97365074 97365074 A G rs301949 EPHA6 Nonsynonymous SNV M358V 0.543 0.547 0.527 202 638 210 0.518 155 180 57 38 50 4.525 14617 chr3 50645296 50645296 G A rs61737505 CISH Synonymous SNV S173S 0.013 0.023 0.02 7 15 9 0.018 6 0 0 0 0 Benign 7.9 14618 chr12 76740149 76740149 G A rs35676114 BBS10 Nonsynonymous SNV P539L 0.111 0.094 0.095 37 130 36 0.095 28 8 2 4 0 Benign 0.016 14619 chr13 113897320 113897320 C T rs3764124 CUL4A Synonymous SNV D358D 0.229 0.24 0.218 84 269 92 0.215 64 31 12 10 10 7.516 14620 chr13 114623821 114623821 G A rs41284486 LINC00452 0.149 0.154 0.153 61 175 59 0.156 45 7 6 3 3 1.622 14621 chr15 34032131 34032131 G A rs41279212 RYR3 Synonymous SNV T2585T 0.152 0.148 0.194 74 178 57 0.19 57 21 6 4 9 12.43 14622 chr3 50645413 50645413 G A rs2239752 CISH Synonymous SNV A134A 0.018 0.029 0.037 9 21 11 0.023 11 1 0 0 0 6.338 14623 chr13 113909339 113909339 A G rs2302757 CUL4A Nonsynonymous SNV K644R 0.23 0.24 0.218 84 270 92 0.215 64 32 12 10 10 11.79 14624 chr15 34113010 34113010 C T rs2288613 RYR3 Synonymous SNV F3599F 0.474 0.466 0.497 188 557 179 0.482 146 136 49 36 41 15.07 14625 chr3 97591153 97591153 C T rs17301717 CRYBG3 Nonsynonymous SNV S372F 0.276 0.26 0.276 116 324 100 0.297 81 43 15 13 18 25.2 14626 chr3 51668019 51668019 C T rs143648072 RAD54L2 Synonymous SNV F370F 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 13.36 14627 chr15 34113536 34113536 A G rs2288614 RYR3 Synonymous SNV A3622A 0.629 0.622 0.653 255 739 239 0.654 192 235 81 58 81 0.23 14628 chr13 110438316 110438316 - GTT IRS2 N28_H29insN 0.019 0.008 0.007 5 22 3 0.013 2 1 0 0 0 14629 chr15 34130739 34130739 C G rs73372074 RYR3 Synonymous SNV S4181S 0.008 0.003 0.027 1 9 1 0.003 8 0 0 0 0 Benign 0.849 14630 chr13 110813709 110813709 G A rs1133219 COL4A1 Synonymous SNV A1490A 0.362 0.339 0.323 133 425 130 0.341 95 77 26 15 28 Benign 11.57 14631 chr3 97593485 97593485 C T rs2279897 CRYBG3 Synonymous SNV L1149L 0.284 0.273 0.289 122 333 105 0.313 85 46 16 14 19 5.741 14632 chr3 51895693 51895693 G A rs114750576 IQCF2 Nonsynonymous SNV R4Q 0.089 0.102 0.054 26 104 39 0.067 16 6 4 0 2 3.606 14633 chr13 25033200 25033200 T A rs1130941 PARP4 Synonymous SNV T802T 0.101 0.078 0.061 37 118 30 0.095 18 6 0 1 0 6.501 14634 chr3 97594261 97594261 G A rs6782766 CRYBG3 Nonsynonymous SNV G1408E 0.498 0.49 0.507 190 585 188 0.487 149 150 41 38 47 Benign 14.52 14635 chr15 34159986 34159986 T C rs2241647 AVEN Nonsynonymous SNV Q228R 0.051 0.047 0.058 21 60 18 0.054 17 0 1 0 3 22.9 14636 chr12 95906603 95906603 C A rs3794261 METAP2 Synonymous SNV T342T 0.145 0.193 0.099 51 170 74 0.131 29 9 11 0 3 20.9 14637 chr13 110818598 110818598 T G rs3742207 COL4A1 Nonsynonymous SNV Q1334H 0.338 0.331 0.374 120 397 127 0.308 110 65 18 23 17 Benign 8.7 14638 chr13 25033227 25033227 A G rs1050107 PARP4 Synonymous SNV Y793Y 0.101 0.078 0.065 37 118 30 0.095 19 6 0 1 0 0.002 14639 chr3 97595379 97595379 G A rs6786354 CRYBG3 Nonsynonymous SNV V1781M 0.499 0.49 0.507 190 586 188 0.487 149 150 41 38 47 Benign 0.031 14640 chr3 97607290 97607290 G A rs13065340 CRYBG3 Synonymous SNV P2465P 0.248 0.25 0.272 111 291 96 0.285 80 45 16 13 18 11.84 14641 chr15 34528948 34528948 G A rs4577050 SLC12A6 Synonymous SNV L986L 0.604 0.599 0.629 245 709 230 0.628 185 207 65 57 74 Benign 10.14 14642 chr3 97660084 97660084 C T rs11544446 CRYBG3 Synonymous SNV C2866C 0.283 0.271 0.293 120 332 104 0.308 86 46 16 14 19 6.366 14643 chr15 34530499 34530499 A G rs761418960 SLC12A6 Synonymous SNV D897D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.608 14644 chr13 25265103 25265103 A G rs7981616 ATP12A Synonymous SNV A267A 0.216 0.188 0.231 86 254 72 0.221 68 26 7 6 6 0.768 14645 chr13 114059160 114059160 C T rs114199665 LOC101928841 Synonymous SNV P1115P 0.037 0.044 0 15 44 17 0.038 0 0 0 0 0 1.902 14646 chr15 34640218 34640218 C T rs374230 NUTM1 Nonsynonymous SNV P40L 1 0.997 0.98 389 1174 383 0.997 288 587 191 142 194 0.002 14647 chr3 97660106 97660106 A C rs4857302 CRYBG3 Nonsynonymous SNV N2874H 0.5 0.497 0.507 191 587 191 0.49 149 152 43 38 47 10.14 14648 chr13 25265139 25265139 T C rs2071490 ATP12A Synonymous SNV V279V 0.216 0.188 0.235 86 254 72 0.221 69 26 7 7 6 1.626 14649 chr13 100623882 100623882 G A rs11619501 ZIC5 Synonymous SNV V16V 0.027 0.073 0.024 12 32 28 0.031 7 1 1 0 0 0.958 14650 chr13 114059536 114059536 C G rs114763575 LOC101928841 Nonsynonymous SNV R990P 0.037 0.044 0 15 44 17 0.038 0 0 0 0 0 4.709 14651 chr13 25266932 25266932 C A rs963984 ATP12A Synonymous SNV V431V 0.125 0.107 0.146 50 147 41 0.128 43 11 1 5 3 13.49 14652 chr15 34640378 34640378 T C rs430083 NUTM1 Synonymous SNV D93D 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.012 14653 chr3 97664725 97664725 C T rs2172257 RIOX2 Nonsynonymous SNV A386T 0.498 0.492 0.51 190 585 189 0.487 150 150 42 39 47 13.35 14654 chr13 25378476 25378476 A G rs9511451 RNF17 Nonsynonymous SNV H667R 0.287 0.32 0.248 116 337 123 0.297 73 41 22 8 17 0.002 14655 chr15 34646769 34646769 G A rs61737334 NUTM1 Nonsynonymous SNV V390I 0.032 0.021 0.017 11 38 8 0.028 5 0 0 0 1 0.003 14656 chr13 114059703 114059703 G A rs115337711 LOC101928841 Synonymous SNV G934G 0.038 0.044 0 15 45 17 0.038 0 0 0 0 0 6.709 14657 chr13 114059973 114059973 G A rs147143108 LOC101928841 Synonymous SNV L844L 0.036 0.044 0 15 42 17 0.038 0 0 0 0 0 2.115 14658 chr15 34649064 34649064 A G rs61737331 NUTM1 Nonsynonymous SNV N942S 0.018 0.018 0.01 10 21 7 0.026 3 0 0 0 1 0.014 14659 chr13 114060451 114060451 C T rs77747478 LOC101928841 Nonsynonymous SNV R685H 0.015 0.016 0 10 18 6 0.026 0 0 0 0 0 1.254 14660 chr3 97673268 97673268 A C rs832079 RIOX2 Synonymous SNV S251S 0.999 0.992 0.993 389 1173 381 0.997 292 586 189 145 194 0.006 14661 chr13 114060598 114060598 T G rs148885969 LOC101928841 Nonsynonymous SNV K636T 0.038 0.044 0 15 45 17 0.038 0 0 0 0 0 5.127 14662 chr12 96387765 96387765 T A rs2302628 HAL Synonymous SNV T141T 0.05 0.049 0.048 7 59 19 0.018 14 2 0 0 0 Benign 1.486 14663 chr3 97806175 97806175 C A rs76549762 OR5AC2 Nonsynonymous SNV N53K 0.022 0.013 0.027 5 26 5 0.013 8 0 0 0 0 12.65 14664 chr13 25440318 25440318 G A rs9507425 RNF17 Nonsynonymous SNV E1376K 0.287 0.32 0.248 116 337 123 0.297 73 42 22 8 17 14.68 14665 chr15 34649211 34649211 C A rs2279683 NUTM1 Nonsynonymous SNV T991N 0.083 0.07 0.075 30 98 27 0.077 22 1 0 1 2 22.6 14666 chr13 114175038 114175038 G A rs7319493 TMCO3 Nonsynonymous SNV A381T 0.118 0.081 0.092 40 138 31 0.103 27 11 2 1 3 0.002 14667 chr12 96921048 96921048 G A CFAP54 Nonsynonymous SNV E395K 0.007 0 0 1 8 0 0.003 0 0 0 0 0 23.5 14668 chr13 101315269 101315269 C T rs201804960 TMTC4 Synonymous SNV A148A 0.009 0.016 0.02 4 11 6 0.01 6 0 0 0 0 18.33 14669 chr3 97806616 97806616 G A rs4518168 OR5AC2 Nonsynonymous SNV M200I 0.526 0.552 0.49 202 617 212 0.518 144 161 58 33 55 2.178 14670 chr15 34649247 34649247 C G rs2279684 NUTM1 Nonsynonymous SNV P1003R 0.083 0.07 0.075 30 98 27 0.077 22 1 0 1 2 7.486 14671 chr13 25479541 25479541 A C rs17402892 CENPJ Nonsynonymous SNV S879A 0.151 0.151 0.139 61 177 58 0.156 41 11 3 6 5 Benign/Likely benign 0.022 14672 chr3 97806944 97806944 T C rs80220955 OR5AC2 X310Q 0.268 0.279 0.231 106 315 107 0.272 68 40 11 9 17 8.433 14673 chr3 52255392 52255392 G A rs445676 TLR9 Synonymous SNV Y980Y 0.028 0.023 0.017 11 33 9 0.028 5 1 0 0 0 3.321 14674 chr15 35044757 35044757 C T rs34964522 GJD2 Synonymous SNV E296E 0.104 0.104 0.095 49 122 40 0.126 28 8 6 3 1 3.648 14675 chr13 25486911 25486911 G T rs9511510 CENPJ Nonsynonymous SNV P85T 0.151 0.151 0.139 61 177 58 0.156 41 11 3 6 5 Benign/Likely benign 0.032 14676 chr3 97851998 97851998 A C rs9845327 OR5H1 Nonsynonymous SNV I153L 0.516 0.5 0.486 187 606 192 0.479 143 165 48 33 41 0.001 14677 chr15 35045057 35045057 G A rs3743123 GJD2 Synonymous SNV S196S 0.334 0.339 0.337 136 392 130 0.349 99 68 26 21 19 3.516 14678 chr15 35045312 35045312 T A rs651724 GJD2 Synonymous SNV T111T 0.672 0.68 0.67 276 789 261 0.708 197 263 89 69 92 8.332 14679 chr3 97852083 97852083 C T rs9826076 OR5H1 Nonsynonymous SNV T181I 0.522 0.503 0.466 188 613 193 0.482 137 164 48 33 41 0.006 14680 chr15 35149008 35149008 C T rs8035240 AQR Synonymous SNV P1481P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.6 14681 chr15 36946303 36946303 C G rs3784678 C15orf41 Nonsynonymous SNV L36V 0.474 0.5 0.483 185 556 192 0.474 142 124 47 33 42 Benign 23 14682 chr13 111155779 111155779 G A rs4773199 COL4A2 Synonymous SNV A1363A 0.273 0.25 0.279 98 320 96 0.251 82 43 17 10 11 Benign 9.817 14683 chr3 97887865 97887865 G A rs4133320 OR5H15 Nonsynonymous SNV V108I 0.507 0.484 0.486 186 595 186 0.477 143 153 45 33 40 0.034 14684 chr12 79842709 79842709 G T rs12812916 SYT1 Synonymous SNV V358V 0.041 0.042 0.054 20 48 16 0.051 16 1 1 0 0 2.938 14685 chr3 52265215 52265215 G A rs164637 TWF2 Synonymous SNV H137H 0.049 0.049 0.061 22 57 19 0.056 18 2 0 0 1 2.118 14686 chr15 37110637 37110637 T C rs1194621 CSNK1A1P1 0 0 0.99 0 0 0 0 291 0 0 145 0 2.131 14687 chr15 38614525 38614525 G A rs7182445 SPRED1 Synonymous SNV K97K 0.883 0.844 0.816 338 1037 324 0.867 240 456 138 100 147 Benign 11.86 14688 chr3 52325106 52325106 C G rs35130772 GLYCTK Nonsynonymous SNV L170V 0.052 0.049 0.051 25 61 19 0.064 15 2 0 0 1 15.68 14689 chr3 97887985 97887985 T A rs4133321 OR5H15 Nonsynonymous SNV S148T 0.507 0.484 0.449 186 595 186 0.477 132 153 45 33 40 12.07 14690 chr15 38643574 38643574 T C rs3751526 SPRED1 Synonymous SNV V348V 0.882 0.844 0.823 337 1036 324 0.864 242 455 138 101 146 Benign 0.431 14691 chr15 38988815 38988815 C G rs7165988 LINC02694 0.29 0.313 0.296 92 340 120 0.236 87 39 23 13 11 5.686 14692 chr13 26125490 26125490 G A rs9581388 ATP8A2 Synonymous SNV A262A 0.07 0.081 0.082 26 82 31 0.067 24 3 0 1 0 9.346 14693 chr3 52378540 52378540 G C rs13060192 DNAH1 Nonsynonymous SNV V441L 0.056 0.049 0.041 26 66 19 0.067 12 2 0 0 1 Benign 21.3 14694 chr3 97888042 97888042 A T rs4133322 OR5H15 Nonsynonymous SNV T167S 0.507 0.484 0.425 185 595 186 0.474 125 153 45 32 39 0.003 14695 chr15 38990803 38990803 T G rs12595568 LINC02694 0.645 0.646 0.724 252 757 248 0.646 213 329 112 73 110 5.086 14696 chr15 40226495 40226495 T C rs566792 EIF2AK4 Synonymous SNV I33I 0.908 0.859 0.85 347 1066 330 0.89 250 485 142 110 154 Benign 11.03 14697 chr13 21166491 21166491 C T rs9315740 IFT88 Nonsynonymous SNV L97F 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 19.4 14698 chr3 52383340 52383340 C T rs35982798 DNAH1 Synonymous SNV T810T 0.052 0.049 0.041 25 61 19 0.064 12 2 0 0 1 Benign 10.18 14699 chr3 97888197 97888197 C T rs7623031 OR5H15 Synonymous SNV Y218Y 0.517 0.49 0.469 187 607 188 0.479 138 161 46 35 40 0.132 14700 chr15 40265799 40265799 A G rs2307105 EIF2AK4 Nonsynonymous SNV E556G 0.968 0.979 0.966 382 1136 376 0.979 284 551 184 138 187 Benign 21.7 14701 chr13 27250823 27250823 T C rs3764108 WASF3 Synonymous SNV H226H 0.338 0.333 0.347 115 397 128 0.295 102 58 20 19 19 0.722 14702 chr12 80190650 80190650 C G rs2694657 PPP1R12A Synonymous SNV L735L 0.079 0.096 0.099 36 93 37 0.092 29 6 3 1 3 11.03 14703 chr3 52390789 52390789 C T rs61734640 DNAH1 Nonsynonymous SNV R1285W 0.052 0.049 0.041 25 61 19 0.064 12 2 0 0 1 29.6 14704 chr3 98001777 98001777 G C rs72487753 OR5H2 Nonsynonymous SNV E16Q 0.152 0.135 0.146 70 179 52 0.179 43 18 5 5 7 10.3 14705 chr13 27333461 27333461 G A rs887825235 GPR12 Synonymous SNV S168S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.74 14706 chr15 40313141 40313141 C T rs3207297 EIF2AK4 Synonymous SNV G1405G 0.444 0.453 0.435 152 521 174 0.39 128 111 42 29 28 Benign 16.81 14707 chr13 28009031 28009031 G C rs7323 GTF3A Nonsynonymous SNV V245L 0.18 0.216 0.18 102 211 83 0.262 53 18 11 3 15 11.56 14708 chr13 21720956 21720956 C T rs4620 SAP18 Synonymous SNV T84T 0.386 0.354 0.323 164 453 136 0.421 95 81 27 20 32 14.6 14709 chr12 9885813 9885813 A T rs61913428 CLECL1 Synonymous SNV A16A 0.043 0.042 0.041 21 51 16 0.054 12 2 0 0 0 0.018 14710 chr15 40328575 40328575 G C rs7535 SRP14 Nonsynonymous SNV P124A 0.911 0.917 0.888 356 1069 352 0.913 261 490 166 116 163 Benign 0.026 14711 chr13 21417116 21417116 G C rs150400673 XPO4 Synonymous SNV L215L 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 Likely benign 5.626 14712 chr12 80658889 80658889 A C rs752369201 OTOGL Nonsynonymous SNV K699T 0 0 0 0 0 0 0 0 0 0 0 0 10.61 14713 chr3 98002419 98002419 A G rs16839214 OR5H2 Nonsynonymous SNV I230V 0.152 0.135 0.116 70 179 52 0.179 34 18 5 5 7 0.001 14714 chr13 21729952 21729952 - AA rs58481196 SKA3 0.328 0.339 0.136 124 385 130 0.318 40 89 28 10 25 14715 chr12 9885840 9885840 A T rs34201389 CLECL1 Nonsynonymous SNV H7Q 0.043 0.042 0.041 21 51 16 0.054 12 2 0 0 0 7.829 14716 chr3 52426884 52426884 C T rs419050 DNAH1 Synonymous SNV I3439I 0.053 0.049 0.051 25 62 19 0.064 15 2 0 0 1 Benign 14.75 14717 chr15 40328665 40328665 G A rs8208 SRP14 Synonymous SNV L94L 0.676 0.685 0.677 242 794 263 0.621 199 275 94 72 76 Benign 12.43 14718 chr3 98002587 98002587 A G rs16839611 OR5H2 Nonsynonymous SNV I286V 0.249 0.247 0.252 98 292 95 0.251 74 39 14 13 18 0.001 14719 chr13 103387438 103387438 C G rs563754117 CCDC168 Nonsynonymous SNV K5203N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.467 14720 chr15 40330564 40330564 C T rs7321 SRP14 Synonymous SNV K43K 0.931 0.922 0.905 360 1093 354 0.923 266 512 168 120 166 14.81 14721 chr3 52429665 52429665 C T rs419752 DNAH1 Nonsynonymous SNV R3744C 0.051 0.049 0.051 25 60 19 0.064 15 2 0 0 1 Benign 34 14722 chr15 40462780 40462780 G A rs1801389 BUB1B Synonymous SNV K94K 0.15 0.161 0.136 68 176 62 0.174 40 20 5 2 7 Benign 14.32 14723 chr13 23808782 23808782 T C rs1800350 SGCG Synonymous SNV D76D 0.112 0.096 0.095 57 131 37 0.146 28 10 3 1 2 Benign/Likely benign 0.108 14724 chr15 40477831 40477831 G A rs1801376 BUB1B Nonsynonymous SNV R349Q 0.664 0.656 0.653 255 779 252 0.654 192 259 78 71 81 Benign 18.15 14725 chr3 98073592 98073592 A - rs11288615 OR5K4 I301Lfs*2 0.625 0.609 0.561 236 734 234 0.605 165 234 73 57 77 14726 chr13 23824783 23824783 T G rs1800351 SGCG Synonymous SNV L104L 0.26 0.206 0.347 122 305 79 0.313 102 39 10 16 14 Benign 0.864 14727 chr3 98110406 98110406 - A rs144759043 OR5K3 Frameshift insertion I302Nfs*21 0.397 0.391 0.524 160 466 150 0.41 154 193 60 53 60 14728 chr13 103389885 103389885 T G rs77353067 CCDC168 Nonsynonymous SNV K4388Q 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 8.1 14729 chr15 40545006 40545006 G A C15orf56 Synonymous SNV L28L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 14730 chr15 40573716 40573716 A G rs4924446 ANKRD63 Nonsynonymous SNV S358P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.27 14731 chr3 98304467 98304467 T C rs1729995 CPOX Synonymous SNV E330E 0.745 0.714 0.724 286 875 274 0.733 213 326 94 76 107 Benign 2.223 14732 chr13 28624294 28624294 G A rs1933437 FLT3 Nonsynonymous SNV T227M 0.505 0.471 0.5 210 593 181 0.538 147 159 44 40 54 not provided 23.8 14733 chr3 98307630 98307630 C T rs2228056 CPOX Nonsynonymous SNV V294I 0.101 0.12 0.105 34 118 46 0.087 31 5 3 1 1 Benign 20.6 14734 chr15 40648366 40648398 CCATGGTCCAGGGCCCTGCGGGCCACCCCCTGG - rs781724729 PHGR1 G48_P58del 0.111 0.099 0.037 36 130 38 0.092 11 8 1 0 0 14735 chr15 40655845 40655845 C G rs1898883 DISP2 Nonsynonymous SNV P47A 0.658 0.625 0.612 244 773 240 0.626 180 255 77 58 85 5.958 14736 chr13 113337689 113337689 C T rs117015953 ATP11AUN 0.016 0.023 0.014 5 19 9 0.013 4 0 0 0 0 12.22 14737 chr13 23904970 23904970 T G SACS Nonsynonymous SNV N4202H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.6 14738 chr3 98541116 98541116 G A rs828616 DCBLD2 Synonymous SNV I262I 0.434 0.357 0.425 173 510 137 0.444 125 117 24 23 39 13.12 14739 chr15 40655873 40655873 G C rs1898882 DISP2 Nonsynonymous SNV C56S 0.444 0.398 0.435 158 521 153 0.405 128 114 33 29 31 14.58 14740 chr13 23905711 23905711 A G rs2737699 SACS Synonymous SNV L3955L 0.338 0.328 0.313 123 397 126 0.315 92 65 22 15 18 Benign/Likely benign 0.013 14741 chr3 99643176 99643176 C T rs793440 FILIP1L Nonsynonymous SNV R168H 0.325 0.273 0.303 112 382 105 0.287 89 55 14 17 22 16.99 14742 chr3 52551566 52551566 G C rs150956780 STAB1 Nonsynonymous SNV V1522L 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 24.5 14743 chr15 40659476 40659476 G A rs35043215 DISP2 Nonsynonymous SNV G388E 0.148 0.141 0.16 68 174 54 0.174 47 9 4 3 3 0.003 14744 chr3 99886662 99886662 G A rs11537816 CMSS1 Nonsynonymous SNV V148I 0.206 0.193 0.16 66 242 74 0.169 47 16 9 2 5 2.336 14745 chr13 23907909 23907909 A G rs17078605 SACS Nonsynonymous SNV V3222A 0.337 0.328 0.316 123 396 126 0.315 93 65 22 15 18 Benign/Likely benign 23.1 14746 chr15 40660043 40660043 G T rs76331864 DISP2 Nonsynonymous SNV G577V 0.015 0.01 0.02 4 18 4 0.01 6 0 0 0 0 22.4 14747 chr3 100170600 100170600 - TCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT rs71132521 LNP1 S80_H81insSDRLPRRHSHEDQEFRCRS 0.431 0.474 0.446 166 506 182 0.426 131 114 45 30 35 14748 chr3 100174722 100174722 G A rs1132022 LNP1 Synonymous SNV E163E 0.433 0.479 0.463 166 508 184 0.426 136 114 45 31 37 8.384 14749 chr15 40699940 40699940 T C rs2289331 IVD Nonsynonymous SNV V83A 0.664 0.628 0.643 248 779 241 0.636 189 259 78 62 87 Benign 4.495 14750 chr15 40700006 40700006 - TT rs3214685 IVD Frameshift insertion S106Ffs*36 0.664 0.628 0.629 248 779 241 0.636 185 259 78 61 87 14751 chr3 100287764 100287764 T C rs28722928 TMEM45A Synonymous SNV Y229Y 0.158 0.161 0.146 56 186 62 0.144 43 11 1 5 4 0.021 14752 chr13 23909162 23909162 A G rs9552929 SACS Synonymous SNV V2804V 0.338 0.328 0.32 123 397 126 0.315 94 65 22 15 18 Benign/Likely benign 0.79 14753 chr15 40751555 40751555 C A rs3803357 BAHD1 Nonsynonymous SNV Q298K 0.509 0.505 0.52 194 598 194 0.497 153 154 49 43 52 21.9 14754 chr3 100368546 100368546 A G rs61730367 ADGRG7 Nonsynonymous SNV K130R 0.081 0.073 0.068 36 95 28 0.092 20 4 0 0 2 0.111 14755 chr13 23911820 23911820 A G rs4143768 SACS Synonymous SNV I1918I 0.338 0.326 0.306 123 397 125 0.315 90 64 22 15 18 Benign/Likely benign 0.678 14756 chr15 40824710 40824710 T C rs8029208 MRPL42P5 0 0 0.915 0 0 0 0 269 0 0 124 0 0.339 14757 chr15 40856965 40856965 A G rs199660091 CCDC32 Synonymous SNV G5G 0.002 0.003 0.014 3 2 1 0.008 4 0 0 0 0 3.866 14758 chr3 100467018 100467018 T C rs11353 TFG Synonymous SNV P282P 0.668 0.641 0.622 256 784 246 0.656 183 263 76 56 86 Benign 0.136 14759 chr15 40856989 40856989 C T rs3803354 CCDC32 0.934 0.93 0.925 369 1096 357 0.946 272 512 168 125 175 9.134 14760 chr3 52562886 52562886 G A rs139119664 NT5DC2 Synonymous SNV D161D 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 11.21 14761 chr15 40898643 40898643 G C rs7177192 KNL1 Nonsynonymous SNV R43T 0.756 0.747 0.833 314 887 287 0.805 245 397 124 105 136 Benign 0.003 14762 chr3 100473505 100473505 C T rs10936352 ABI3BP Synonymous SNV P916P 0.349 0.349 0.357 120 410 134 0.308 105 69 22 21 20 17.34 14763 chr15 40913840 40913840 G T rs2412541 KNL1 Nonsynonymous SNV A460S 0.831 0.813 0.84 327 976 312 0.838 247 408 127 106 137 Benign 0.009 14764 chr3 100558416 100558416 T C rs9841585 ABI3BP Nonsynonymous SNV T584A 0.261 0.299 0.248 118 307 115 0.303 73 29 16 6 19 10.53 14765 chr13 31531009 31531009 G A rs12857479 TEX26 0.395 0.427 0.401 155 464 164 0.397 118 88 35 22 25 17.2 14766 chr15 40914177 40914177 T C rs11858113 KNL1 Nonsynonymous SNV M572T 0.39 0.372 0.415 153 458 143 0.392 122 83 28 28 28 Benign 1.498 14767 chr3 100617680 100617680 C T rs2245370 ABI3BP Synonymous SNV S136S 0.5 0.5 0.548 197 587 192 0.505 161 136 44 44 51 16.88 14768 chr3 100949842 100949842 G A rs348867 IMPG2 Synonymous SNV L1127L 0.735 0.742 0.762 289 863 285 0.741 224 321 105 84 107 Benign 0.086 14769 chr13 114150107 114150107 C T rs11164135 TMCO3 Synonymous SNV L71L 0.045 0.018 0.031 20 53 7 0.051 9 5 0 0 2 10.91 14770 chr15 40914772 40914772 C T rs11855334 KNL1 Synonymous SNV V770V 0.39 0.375 0.415 153 458 144 0.392 122 83 29 28 28 Benign 8.234 14771 chr13 103460070 103460070 G T BIVM, BIVM-ERCC5 Synonymous SNV V151V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.793 14772 chr3 100963154 100963154 G A rs571391 IMPG2 Nonsynonymous SNV T674I 0.572 0.573 0.554 214 671 220 0.549 163 198 62 45 59 Benign 0.875 14773 chr15 40915190 40915190 A G rs8040502 KNL1 Nonsynonymous SNV R910G 0.831 0.813 0.833 327 976 312 0.838 245 407 127 105 137 Benign 7.062 14774 chr13 103513951 103513951 A G rs4150313 BIVM-ERCC5, ERCC5 Nonsynonymous SNV Q256R 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Benign/Likely benign 26.5 14775 chr13 31891743 31891743 G A rs34638481 B3GLCT Nonsynonymous SNV G369S 0.074 0.057 0.044 19 87 22 0.049 13 1 0 1 1 Benign 0.008 14776 chr15 40915894 40915894 T C rs11070285 KNL1 Synonymous SNV N1144N 0.394 0.375 0.418 153 462 144 0.392 123 86 29 28 28 Benign 0.006 14777 chr3 101080694 101080694 T C rs7616677 SENP7 Synonymous SNV E332E 0.352 0.318 0.289 146 413 122 0.374 85 74 21 16 26 2.432 14778 chr15 41099899 41099899 - GGGGC rs142730574 ZFYVE19 Frameshift insertion R48Kfs*63 0.338 0.344 0.33 137 397 132 0.351 97 78 30 18 23 14779 chr3 53220215 53220215 G A rs2230494 PRKCD Synonymous SNV E392E 0.322 0.333 0.323 142 378 128 0.364 95 61 20 13 24 Benign 11.27 14780 chr3 101085413 101085413 G A rs939443 SENP7 Synonymous SNV T229T 0.364 0.326 0.316 148 427 125 0.379 93 75 21 16 26 10.44 14781 chr13 103518693 103518693 G A rs142438319 BIVM-ERCC5, ERCC5 Nonsynonymous SNV A761T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.1 14782 chr15 41105926 41105926 T G rs690347 ZFYVE19 Nonsynonymous SNV S308A 0.765 0.794 0.741 290 898 305 0.744 218 349 128 79 106 14.25 14783 chr3 101484335 101484335 G A rs2625282 CEP97 Synonymous SNV Q787Q 0.875 0.872 0.867 342 1027 335 0.877 255 450 148 111 149 6.919 14784 chr3 101576029 101576029 - ACTTTTAGAAAGCTTTAATAACC rs3217713 NFKBIZ 0.738 0.737 0.738 296 866 283 0.759 217 325 104 78 115 14785 chr15 41148199 41148199 C T rs659232 SPINT1 Synonymous SNV Y409Y 0.802 0.831 0.823 319 942 319 0.818 242 373 133 100 130 13.31 14786 chr3 101576175 101576175 T C rs14134 NFKBIZ Synonymous SNV L659L 0.576 0.578 0.561 234 676 222 0.6 165 203 72 49 73 2.354 14787 chr13 32360547 32360547 A G rs7325513 RXFP2 Synonymous SNV E295E 0.68 0.62 0.629 254 798 238 0.651 185 284 83 59 84 2.333 14788 chr15 41149161 41149161 G C rs690458 SPINT1 Synonymous SNV T510T 0.722 0.781 0.806 300 848 300 0.769 237 364 132 100 127 7.087 14789 chr3 105260518 105260518 G A rs579565 ALCAM Synonymous SNV L300L 0.228 0.237 0.252 77 268 91 0.197 74 34 8 14 7 11.89 14790 chr13 32676114 32676114 A G rs364995 FRY Synonymous SNV T95T 0.652 0.643 0.612 284 766 247 0.728 180 249 78 61 98 0.955 14791 chr15 41191944 41191944 C T VPS18 Stop gain R310X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 14792 chr13 25255705 25255705 C A rs41288276 ATP12A Synonymous SNV T5T 0.068 0.057 0.102 16 80 22 0.041 30 2 0 1 0 9.624 14793 chr15 41476209 41476209 T C rs522063 EXD1 Nonsynonymous SNV T489A 0.745 0.747 0.793 290 875 287 0.744 233 323 104 94 105 0.001 14794 chr3 105260596 105260596 T C rs599278 ALCAM Synonymous SNV A326A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.15 14795 chr13 32747654 32747654 C A rs17077179 FRY Synonymous SNV R768R 0.101 0.112 0.092 21 118 43 0.054 27 8 3 3 0 16.92 14796 chr3 105389153 105389153 A G rs11713094 CBLB Synonymous SNV P518P 0.135 0.161 0.173 70 158 62 0.179 51 11 5 8 8 10.65 14797 chr13 32776603 32776603 T C rs2428249 FRY Synonymous SNV L1319L 0.343 0.383 0.347 136 403 147 0.349 102 76 27 23 24 0.002 14798 chr13 114287498 114287498 C T rs141171684 TFDP1 Synonymous SNV C124C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.84 14799 chr15 41476465 41476465 G A rs690733 EXD1 Synonymous SNV T403T 0.457 0.456 0.452 184 536 175 0.472 133 128 42 29 46 2.52 14800 chr3 105422844 105422844 C T rs2305037 CBLB Synonymous SNV T478T 0.829 0.799 0.752 304 973 307 0.779 221 400 124 88 120 16.17 14801 chr13 32785086 32785086 G A rs798981 FRY Synonymous SNV E1502E 0.343 0.383 0.347 136 403 147 0.349 102 76 27 23 24 10.97 14802 chr15 41483682 41483682 A G rs1971131 EXD1 Synonymous SNV P216P 0.2 0.201 0.248 86 235 77 0.221 73 18 7 8 8 3.931 14803 chr13 25265169 25265169 C A rs534672872 ATP12A Synonymous SNV G289G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.118 14804 chr3 105438957 105438957 T G rs2305036 CBLB Synonymous SNV L398L 0.141 0.174 0.184 71 165 67 0.182 54 11 5 9 8 10.56 14805 chr3 53796050 53796050 C T CACNA1D Nonsynonymous SNV T1271M 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 32 14806 chr15 41634587 41634587 A G rs7178634 NUSAP1 Nonsynonymous SNV T33A 0.319 0.341 0.316 135 374 131 0.346 93 59 20 19 23 22.4 14807 chr13 25272870 25272870 C T rs2289901 ATP12A Synonymous SNV I535I 0.155 0.172 0.146 61 182 66 0.156 43 15 5 4 4 11.37 14808 chr13 32885654 32885654 T C rs445909 ZAR1L Nonsynonymous SNV T137A 0.412 0.435 0.422 181 484 167 0.464 124 93 35 27 43 0.001 14809 chr3 105439026 105439026 G A rs2305035 CBLB Synonymous SNV D375D 0.141 0.177 0.184 72 166 68 0.185 54 10 5 9 9 9.17 14810 chr13 25281511 25281511 C T rs147264732 ATP12A Synonymous SNV V817V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.06 14811 chr13 25356053 25356053 T C rs9707144 RNF17 Synonymous SNV F194F 0.423 0.375 0.384 155 497 144 0.397 113 107 25 25 29 0.014 14812 chr3 107491759 107491761 AGA - rs34531902 BBX E399del 0.071 0.07 0.061 22 83 27 0.056 18 3 1 1 0 14813 chr15 41634588 41634588 C A rs7178777 NUSAP1 Nonsynonymous SNV T33N 0.319 0.341 0.316 135 374 131 0.346 93 59 20 19 23 19.82 14814 chr13 32885658 32885658 G A rs371193 ZAR1L Synonymous SNV P135P 0.206 0.193 0.19 98 242 74 0.251 56 19 7 6 13 3.728 14815 chr13 25367282 25367282 A C rs1451568 RNF17 Nonsynonymous SNV K346N 0.209 0.193 0.211 94 245 74 0.241 62 29 8 6 7 0.018 14816 chr3 108072298 108072298 T C rs6779254 HHLA2 Nonsynonymous SNV I30T 0.756 0.695 0.728 307 887 267 0.787 214 328 91 84 119 0.001 14817 chr13 114507965 114507965 C T rs9577888 TMEM255B Synonymous SNV P259P 0.065 0.055 0.099 39 76 21 0.1 29 1 0 1 2 10.68 14818 chr13 32911888 32911888 A G rs1801406 BRCA2 Synonymous SNV K1132K 0.322 0.354 0.344 148 378 136 0.379 101 53 26 11 22 Benign 0.603 14819 chr15 41799848 41799848 G A rs10152795 LTK Synonymous SNV H358H 0.027 0.034 0.037 14 32 13 0.036 11 1 0 0 0 0.051 14820 chr13 114514771 114514771 C A rs57648467 TMEM255B Synonymous SNV P244P 0.066 0.057 0.085 39 77 22 0.1 25 1 0 1 2 8.524 14821 chr13 32912299 32912299 T C rs543304 BRCA2 Synonymous SNV V1269V 0.227 0.208 0.167 84 267 80 0.215 49 18 6 2 10 Benign 0.007 14822 chr15 41813279 41813279 C T rs3743031 RPAP1 Synonymous SNV R1035R 0.409 0.383 0.459 145 480 147 0.372 135 92 26 34 24 7.506 14823 chr3 108135680 108135680 C T rs9873504 MYH15 Synonymous SNV G1329G 0.046 0.042 0.044 15 54 16 0.038 13 1 0 0 0 13.22 14824 chr13 25428002 25428002 C A rs3783082 RNF17 Nonsynonymous SNV N1106K 0.065 0.078 0.065 31 76 30 0.079 19 0 1 0 3 9.323 14825 chr3 53892830 53892830 T C rs2232346 IL17RB Nonsynonymous SNV F278L 0.014 0.021 0.007 10 16 8 0.026 2 0 0 0 0 0.004 14826 chr15 41815516 41815516 G C rs8027526 RPAP1 Nonsynonymous SNV Q825E 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 1.496 14827 chr3 108147728 108147728 T C rs3900940 MYH15 Nonsynonymous SNV T1125A 0.255 0.297 0.286 117 299 114 0.3 84 41 25 13 16 0.004 14828 chr12 85413445 85413445 T C TSPAN19 Nonsynonymous SNV D137G 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 17.55 14829 chr15 41829178 41829178 G A rs112536229 RPAP1 Nonsynonymous SNV P49L 0.028 0.042 0.031 16 33 16 0.041 9 1 0 0 0 0.05 14830 chr3 108159977 108159977 G A rs12638212 MYH15 Nonsynonymous SNV T949I 0.044 0.042 0.034 12 52 16 0.031 10 1 0 0 0 24.9 14831 chr13 32929232 32929232 A G rs1799955 BRCA2 Synonymous SNV S2414S 0.226 0.247 0.272 104 265 95 0.267 80 28 10 7 8 Benign 7.595 14832 chr15 41829230 41829230 A G rs721772 RPAP1 Synonymous SNV L32L 0.51 0.51 0.554 182 599 196 0.467 163 142 51 45 41 2.882 14833 chr13 25466955 25466955 T C rs3742165 CENPJ Synonymous SNV E1014E 0.487 0.448 0.442 186 572 172 0.477 130 138 39 31 42 Benign 3.158 14834 chr3 108188993 108188993 G A rs9868484 MYH15 Nonsynonymous SNV H504Y 0.664 0.69 0.711 271 780 265 0.695 209 250 93 77 99 16.94 14835 chr13 109792825 109792825 C T rs199777754 MYO16 Nonsynonymous SNV A1422V 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 6.576 14836 chr3 55108188 55108188 A G rs35471424 CACNA2D3 Synonymous SNV T1077T 0.09 0.096 0.095 29 106 37 0.074 28 8 0 3 0 0.003 14837 chr15 41860490 41860490 T A rs12148316 TYRO3 Nonsynonymous SNV I301N 0.297 0.299 0.282 117 349 115 0.3 83 53 14 15 14 21.5 14838 chr13 32990780 32990780 A C rs206321 N4BP2L1 Stop gain Y80X 0.242 0.237 0 76 284 91 0.195 0 33 16 0 13 0.387 14839 chr13 25487103 25487103 T C rs35498994 CENPJ Nonsynonymous SNV M21V 0.065 0.078 0.065 31 76 30 0.079 19 0 1 0 3 Benign 21.2 14840 chr3 56330401 56330401 G T rs74804174 ERC2 Nonsynonymous SNV H240Q 0.01 0.008 0.024 5 12 3 0.013 7 0 0 0 0 4.88 14841 chr13 33017043 33017043 T C rs3742318 N4BP2L2 Nonsynonymous SNV N529S 0.259 0.253 0.279 87 304 97 0.223 82 38 17 11 14 1.238 14842 chr15 41991315 41991315 A T rs2178004 MGA Nonsynonymous SNV T716S 0.825 0.807 0.837 323 969 310 0.828 246 399 129 102 134 0.252 14843 chr3 108298260 108298260 C T rs2278911 CIP2A Nonsynonymous SNV R229Q 0.109 0.109 0.085 53 128 42 0.136 25 8 3 1 6 23.9 14844 chr13 25823441 25823441 C T rs62619824 MTMR6 Nonsynonymous SNV A599T 0.099 0.102 0.068 48 116 39 0.123 20 5 1 1 3 17.5 14845 chr15 42005480 42005480 C T rs61736064 MGA Synonymous SNV R1072R 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 Benign 14.46 14846 chr3 108403086 108403086 T C rs9856097 DZIP3 Synonymous SNV P969P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.475 14847 chr13 33634983 33634983 C T rs564481 KL Synonymous SNV H589H 0.371 0.336 0.388 138 436 129 0.354 114 78 19 23 24 Benign 1.866 14848 chr15 42026764 42026764 C T rs1918314 MGA Synonymous SNV D1296D 0.811 0.781 0.796 317 952 300 0.813 234 384 119 94 129 12.34 14849 chr13 110435302 110435302 T C rs9583424 IRS2 Synonymous SNV P1033P 0.102 0.091 0.238 36 120 35 0.092 70 30 7 3 10 Likely benign 0.001 14850 chr3 108634973 108634973 C A rs10933973 GUCA1C, GUCA1C Nonsynonymous SNV G148V 0.329 0.279 0.265 138 386 107 0.354 78 55 16 8 23 22.4 14851 chr13 25823451 25823451 A G rs17082035 MTMR6 Synonymous SNV Y595Y 0.099 0.102 0.068 48 116 39 0.123 20 5 1 1 3 4.126 14852 chr12 8758028 8758028 T C rs104894984 AICDA Synonymous SNV L70L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 5.427 14853 chr15 42041712 42041712 G A rs2695163 MGA Synonymous SNV K1760K 0.812 0.781 0.799 317 953 300 0.813 235 384 119 95 129 6.196 14854 chr15 42041723 42041723 A G rs61757234 MGA Nonsynonymous SNV Q1764R 0.02 0.036 0.037 9 23 14 0.023 11 0 1 0 0 6.469 14855 chr3 108639423 108639423 C T rs2715687 GUCA1C Nonsynonymous SNV V72I 0.691 0.716 0.646 280 811 275 0.718 190 285 93 83 102 9.744 14856 chr13 33704154 33704154 C T rs596742 STARD13 Synonymous SNV P212P 0.083 0.091 0.068 35 98 35 0.09 20 2 0 1 3 11.06 14857 chr12 97038054 97038054 G A rs12372726 CFAP54 Nonsynonymous SNV R1472H 0.089 0.12 0.129 29 104 46 0.074 38 6 4 2 0 17.15 14858 chr13 25887811 25887811 T C rs12871608 NUP58 Nonsynonymous SNV S154P 0.023 0.031 0.048 16 27 12 0.041 14 1 0 0 1 17.38 14859 chr15 42105918 42105918 C G rs1201689 MAPKBP1 Nonsynonymous SNV L307V 0.348 0.362 0.408 160 409 139 0.41 120 77 23 25 31 11.54 14860 chr13 33704319 33704319 T A rs111691119 STARD13 Synonymous SNV R157R 0.003 0.016 0.003 1 3 6 0.003 1 0 0 0 0 Benign 0.981 14861 chr3 108677821 108677821 C A rs2197737 MORC1 Synonymous SNV S982S 0.399 0.43 0.371 159 469 165 0.408 109 110 37 32 35 13.3 14862 chr13 25832832 25832837 TAAAAT - rs149367120 MTMR6 0.093 0.099 0.061 48 109 38 0.123 18 4 1 1 3 14863 chr13 34013847 34013847 G C rs876133 STARD13 Nonsynonymous SNV N15K 0.536 0.529 0.476 198 629 203 0.508 140 172 51 34 50 1.751 14864 chr3 108690221 108690221 G A rs2593943 MORC1 Nonsynonymous SNV H836Y 0.485 0.505 0.531 193 569 194 0.495 156 142 47 44 50 8.373 14865 chr15 42109223 42109223 T C rs1197689 MAPKBP1 Synonymous SNV V567V 0.861 0.87 0.881 326 1011 334 0.836 259 433 144 115 137 8.367 14866 chr13 36229873 36229873 C T rs2274550 NBEA Synonymous SNV D555D 0.122 0.128 0.102 81 143 49 0.208 30 5 3 1 11 13.9 14867 chr15 42135988 42135988 C T rs1672466 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV D286D 0.799 0.755 0.796 310 938 290 0.795 234 381 116 95 129 10.28 14868 chr13 21189941 21189941 G A rs2442455 IFT88 Nonsynonymous SNV M355I 0.157 0.146 0.136 65 184 56 0.167 40 15 4 3 6 Benign 21.7 14869 chr15 42138456 42138456 G A rs1197669 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV R552R 0.319 0.328 0.378 127 374 126 0.326 111 74 17 21 19 11.67 14870 chr3 108703587 108703587 C T rs2290057 MORC1 Nonsynonymous SNV S767N 0.175 0.133 0.146 56 206 51 0.144 43 19 2 2 4 0.001 14871 chr15 42143533 42143533 T G rs1197665 SPTBN5 Nonsynonymous SNV N3564T 0.903 0.917 0.884 343 1060 352 0.879 260 477 162 119 150 0.001 14872 chr13 28009851 28009851 G A rs7669 MTIF3 Synonymous SNV D266D 0.158 0.138 0.122 45 185 53 0.115 36 23 3 0 2 0.142 14873 chr13 103399761 103399761 G T rs143261898 CCDC168 Nonsynonymous SNV P1096T 0.011 0.005 0.01 3 13 2 0.008 3 0 0 0 0 6.038 14874 chr3 108719470 108719470 C G rs3762698 MORC1 Synonymous SNV L707L 0.357 0.378 0.347 152 419 145 0.39 102 73 28 21 30 0.497 14875 chr15 42145936 42145936 G C rs1197660 SPTBN5 Nonsynonymous SNV A3275G 0.359 0.385 0.425 139 422 148 0.356 125 88 31 30 27 17.88 14876 chr13 36801415 36801415 C T rs9546785 CCDC169 Nonsynonymous SNV G117R 0.51 0.484 0.476 185 599 186 0.474 140 155 41 34 42 10.96 14877 chr3 108754238 108754238 A T rs4855576 MORC1 Nonsynonymous SNV F470I 0.95 0.94 0.959 372 1115 361 0.954 282 528 169 136 177 0.002 14878 chr15 42149472 42149472 T C rs1456235 SPTBN5 Nonsynonymous SNV Q2862R 0.542 0.529 0.463 217 636 203 0.556 136 185 57 44 62 0.005 14879 chr13 21429776 21429776 T C rs17320607 XPO4 Nonsynonymous SNV N149S 0.034 0.047 0.014 13 40 18 0.033 4 1 0 0 0 20.2 14880 chr13 36828237 36828237 T C rs9546897 CCDC169, CCDC169-SOHLH2 Nonsynonymous SNV K20R 0.509 0.484 0.422 186 597 186 0.477 124 155 41 33 43 9.336 14881 chr3 108754260 108754260 A G rs3762696 MORC1 Synonymous SNV D462D 0.484 0.51 0.517 194 568 196 0.497 152 141 49 43 51 0.021 14882 chr15 42149521 42149521 G A rs61753573 SPTBN5 Synonymous SNV L2846L 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 5.746 14883 chr3 109049384 109049384 T C rs13059848 DPPA4 Synonymous SNV P170P 0.155 0.159 0.201 57 182 61 0.146 59 14 3 6 1 0.708 14884 chr15 42149596 42149596 C G rs1197675 SPTBN5 Nonsynonymous SNV G2821R 0.319 0.323 0.384 118 374 124 0.303 113 60 20 23 18 1.269 14885 chr13 38138689 38138689 C T rs9547952 POSTN Nonsynonymous SNV V699M 0.072 0.122 0.075 25 84 47 0.064 22 2 3 0 0 23.7 14886 chr3 111356083 111356083 G C rs1533270 CD96 Synonymous SNV P454P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 6.373 14887 chr3 111765834 111765834 G A rs1561911 TMPRSS7 Synonymous SNV S98S 0.928 0.943 0.929 361 1090 362 0.926 273 504 170 127 167 14.08 14888 chr15 42150888 42150888 G A rs890503 SPTBN5 Nonsynonymous SNV T2713I 0.326 0.328 0.378 117 383 126 0.3 111 66 20 22 18 17.58 14889 chr3 111799845 111799845 A T rs340151 TMPRSS7 Nonsynonymous SNV S690C 0.962 0.953 0.952 368 1129 366 0.944 280 545 176 133 173 11.28 14890 chr13 28552425 28552425 G T rs9579139 URAD Nonsynonymous SNV R114S 0.288 0.302 0.231 119 338 116 0.305 68 46 12 9 21 34 14891 chr3 56835761 56835761 G A rs3732508 ARHGEF3 Synonymous SNV P22P 0.458 0.453 0.401 169 538 174 0.433 118 121 40 25 34 19.17 14892 chr15 42159290 42159290 C T rs2290553 SPTBN5 Nonsynonymous SNV R2116Q 0.27 0.245 0.286 91 317 94 0.233 84 53 13 17 11 5.093 14893 chr3 111828423 111828423 G A rs340167 C3orf52 Nonsynonymous SNV G144S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 18.64 14894 chr13 28562605 28562605 T G rs3897926 URAD Nonsynonymous SNV Q57P 0.369 0.383 0.316 145 433 147 0.372 93 70 24 8 28 6.608 14895 chr15 42160635 42160635 C G rs2290556 SPTBN5 Synonymous SNV G2006G 0.051 0.055 0.054 31 60 21 0.079 16 3 1 0 0 5.652 14896 chr3 57136585 57136585 C T rs17057718 IL17RD Nonsynonymous SNV V301M 0.161 0.237 0.16 71 189 91 0.182 47 16 16 3 7 22.3 14897 chr15 42167089 42167089 T C rs61746225 SPTBN5 Nonsynonymous SNV M1485V 0.033 0.042 0.041 21 39 16 0.054 12 1 1 0 0 0.001 14898 chr3 111898387 111898387 A G rs74367861 SLC9C1 Synonymous SNV T922T 0.136 0.104 0.099 39 160 40 0.1 29 2 3 2 3 0.082 14899 chr13 39264690 39264690 T C rs2496425 FREM2 Nonsynonymous SNV F1070S 0.286 0.302 0.211 114 336 116 0.292 62 48 19 7 16 Benign 6.483 14900 chr3 111918216 111918216 A G rs13098660 SLC9C1 Synonymous SNV F777F 0.786 0.786 0.697 304 923 302 0.779 205 363 119 82 120 0.065 14901 chr15 42168400 42168400 C T rs2290559 SPTBN5 Nonsynonymous SNV R1345H 0.329 0.328 0.367 114 386 126 0.292 108 68 18 20 17 21.5 14902 chr3 111921225 111921225 G T rs6781844 SLC9C1 Nonsynonymous SNV Q684K 0.784 0.786 0.735 303 920 302 0.777 216 364 119 85 119 11.76 14903 chr13 39430314 39430314 C T rs9548509 FREM2 Nonsynonymous SNV T2326I 0.706 0.714 0.622 276 829 274 0.708 183 289 99 55 98 Benign 14.53 14904 chr15 42169318 42169318 A G rs61746215 SPTBN5 Nonsynonymous SNV L1236P 0.031 0.042 0.034 19 36 16 0.049 10 1 1 0 0 24.8 14905 chr3 57882601 57882601 C T rs17058639 SLMAP Synonymous SNV D426D 0.307 0.299 0.272 119 361 115 0.305 80 60 20 8 23 Benign 12.25 14906 chr3 111923123 111923123 G A rs4434123 SLC9C1 Nonsynonymous SNV T657I 0.78 0.786 0.694 303 916 302 0.777 204 362 119 82 119 0.021 14907 chr13 39603498 39603498 G A rs61737582 PROSER1 Synonymous SNV V43V 0.056 0.068 0.037 15 66 26 0.038 11 4 1 0 0 3.761 14908 chr15 42171462 42171462 C T rs12708402 SPTBN5 Nonsynonymous SNV V1060I 0.266 0.268 0.279 95 312 103 0.244 82 49 12 19 11 5.716 14909 chr13 29675049 29675049 A T rs140464903 MTUS2 Synonymous SNV S862S 0.032 0.023 0.075 10 38 9 0.026 22 1 1 1 1 0.004 14910 chr13 29287552 29287552 C T rs141294918 SLC46A3 Nonsynonymous SNV V109I 0.03 0.029 0.031 26 35 11 0.067 9 1 1 1 0 0.004 14911 chr12 98938295 98938295 G C rs7133258 TMPO Nonsynonymous SNV A247P 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Benign 23.2 14912 chr3 111981849 111981849 C T rs9860819 SLC9C1 Synonymous SNV K325K 0.581 0.625 0.605 246 682 240 0.631 178 195 78 46 82 11.82 14913 chr15 42171537 42171537 A G rs1197683 SPTBN5 Nonsynonymous SNV C1035R 0.88 0.865 0.864 332 1033 332 0.851 254 456 144 112 138 0.012 14914 chr3 58109162 58109162 G A rs1131356 FLNB Nonsynonymous SNV D1157N 0.246 0.247 0.276 78 289 95 0.2 81 36 12 9 15 Benign 26.3 14915 chr3 111981878 111981878 T C rs9809384 SLC9C1 Nonsynonymous SNV I316V 0.579 0.622 0.609 246 680 239 0.631 179 194 78 46 82 8.86 14916 chr15 42178155 42178155 T C rs1210795 SPTBN5 Nonsynonymous SNV H433R 0.865 0.849 0.83 328 1015 326 0.841 244 441 138 102 135 0.001 14917 chr15 42187492 42187492 T C rs1197701 LOC105370792 0 0 0.354 0 0 0 0 104 0 0 19 0 3.099 14918 chr3 111981924 111981924 T C rs9809404 SLC9C1 Nonsynonymous SNV I300M 0.577 0.62 0.609 245 677 238 0.628 179 195 77 46 82 0.04 14919 chr3 58112488 58112488 C T rs2362904 FLNB Synonymous SNV P1407P 0.256 0.258 0.289 82 300 99 0.21 85 39 13 11 16 Benign 11.95 14920 chr15 42211486 42211486 A G rs1704396 EHD4 Synonymous SNV F282F 0.48 0.482 0.52 183 564 185 0.469 153 150 41 44 47 10.58 14921 chr3 58118555 58118555 G A rs12632456 FLNB Nonsynonymous SNV V1471M 0.245 0.245 0.276 80 288 94 0.205 81 37 12 9 15 Benign 26.6 14922 chr15 42287578 42287578 G A rs1668586 PLA2G4E Synonymous SNV T409T 0.847 0.844 0.85 328 994 324 0.841 250 416 136 107 137 13.47 14923 chr3 112051427 112051427 G T rs13072567 LOC105374042 0.169 0.18 0 101 198 69 0.259 0 61 22 0 35 2.486 14924 chr15 42289437 42289437 C T rs184928850 PLA2G4E Nonsynonymous SNV R332Q 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 34 14925 chr3 112063850 112063850 C A rs2272022 CD200 Nonsynonymous SNV P46T 0.338 0.391 0.374 157 397 150 0.403 110 72 29 24 38 13.72 14926 chr12 99093226 99093226 A C rs117235991 APAF1 Nonsynonymous SNV N771T 0.014 0.029 0.024 3 17 11 0.008 7 0 0 0 0 23.3 14927 chr13 23928671 23928671 C T rs17325713 SACS Nonsynonymous SNV A547T 0.009 0.01 0.02 6 10 4 0.015 6 0 0 0 0 Benign 15 14928 chr3 58154327 58154327 C T rs8640 FLNB Synonymous SNV S2429S 0.248 0.24 0.289 70 291 92 0.179 85 36 14 12 12 Benign 17.88 14929 chr15 42289522 42289522 C T rs1704357 PLA2G4E-AS1 0.728 0.706 0.748 279 855 271 0.715 220 350 109 81 107 5.639 14930 chr3 58191266 58191266 C T rs2070117 DNASE1L3 Synonymous SNV T84T 0.199 0.201 0.211 58 234 77 0.149 62 24 10 8 7 13.5 14931 chr3 112185025 112185025 G A rs9288952 BTLA Nonsynonymous SNV P219L 0.91 0.94 0.908 358 1068 361 0.918 267 488 169 124 165 0.007 14932 chr15 42373691 42373691 G A rs116725664 PLA2G4D Synonymous SNV L315L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 11 14933 chr15 42373810 42373810 G C rs11635685 PLA2G4D Nonsynonymous SNV P275R 0.27 0.318 0.31 123 317 122 0.315 91 42 18 17 21 12.53 14934 chr12 994290 994290 C T rs72650730 WNK1 Synonymous SNV I1193I 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign/Likely benign 5.947 14935 chr3 112190137 112190137 G T rs2931761 BTLA Nonsynonymous SNV R157S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.494 14936 chr15 42379594 42379594 G A rs4924619 PLA2G4D Synonymous SNV T53T 0.139 0.107 0.133 54 163 41 0.138 39 11 3 4 0 5.334 14937 chr13 31287978 31287978 - GTGT rs369636483 ALOX5AP Frameshift insertion A40Cfs*17 0.158 0.169 0.146 63 185 65 0.162 43 15 7 1 6 14938 chr15 42386630 42386630 G T rs75734921 PLA2G4D Nonsynonymous SNV P10T 0.142 0.107 0.133 54 167 41 0.138 39 11 3 4 0 13.54 14939 chr3 112253058 112253058 - A rs35560667 ATG3 Frameshift insertion L307Ffs*12 0.83 0.854 0.772 345 975 328 0.885 227 394 139 88 150 14940 chr13 41834744 41834744 C T rs2297555 MTRF1 Synonymous SNV E100E 0.682 0.703 0.663 248 801 270 0.636 195 266 94 64 79 9.445 14941 chr3 112545911 112545911 T - rs58161637 CD200R1L H203Pfs*5 0.221 0.263 0.241 73 260 101 0.187 71 35 12 10 5 14942 chr15 42434254 42434254 G A rs655427 PLA2G4F Synonymous SNV N826N 0.502 0.542 0.503 186 589 208 0.477 148 140 54 36 45 3.766 14943 chr3 112546473 112546473 G A rs1997281 CD200R1L Synonymous SNV I57I 0.443 0.404 0.473 187 520 155 0.479 139 120 35 32 43 6.17 14944 chr15 42434837 42434837 T C rs1356410 PLA2G4F Nonsynonymous SNV M740V 0.606 0.62 0.592 243 712 238 0.623 174 211 78 47 68 0.008 14945 chr3 112642568 112642568 C G rs9865242 CD200R1 Nonsynonymous SNV E312Q 0.633 0.568 0.578 256 743 218 0.656 170 238 59 48 83 0.004 14946 chr13 42442546 42442546 A G rs3742262 VWA8 Nonsynonymous SNV M383T 0.339 0.346 0.33 139 398 133 0.356 97 61 23 18 19 0.002 14947 chr15 42439376 42439376 G A rs4923929 PLA2G4F Synonymous SNV S455S 0.568 0.56 0.452 220 667 215 0.564 133 186 64 32 66 8.345 14948 chr13 31543095 31543095 C T rs2274869 TEX26 Synonymous SNV Y109Y 0.101 0.089 0.126 52 119 34 0.133 37 16 7 6 8 5.759 14949 chr13 31543095 31543095 C T rs2274869 TEX26 Synonymous SNV Y109Y 0.177 0.198 0.163 56 208 76 0.144 48 31 11 7 6 5.759 14950 chr15 42570718 42570718 A G rs8024732 GANC Nonsynonymous SNV Q44R 0.85 0.831 0.82 324 998 319 0.831 241 426 132 99 132 0.001 14951 chr3 112647832 112647832 A C rs9826308 CD200R1 Nonsynonymous SNV H177Q 0.635 0.568 0.588 256 745 218 0.656 173 239 59 48 83 0.034 14952 chr3 58512237 58512237 A G rs1127745 ACOX2 Synonymous SNV C434C 0.145 0.122 0.15 63 170 47 0.162 44 12 2 4 5 1.656 14953 chr13 42465713 42465713 C T rs9562362 VWA8 Nonsynonymous SNV R165H 0.333 0.339 0.33 139 391 130 0.356 97 58 21 18 19 35 14954 chr15 42575963 42575963 A G rs2412689 GANC Nonsynonymous SNV I191M 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.324 14955 chr3 112648125 112648125 G T rs6438117 CD200R1 Synonymous SNV T121T 0.634 0.568 0.588 256 744 218 0.656 173 238 59 48 83 7.243 14956 chr3 58512375 58512375 T C rs1127743 ACOX2 Synonymous SNV A388A 0.094 0.065 0.061 23 110 25 0.059 18 6 1 0 1 5.163 14957 chr13 42729441 42729441 C T rs3208827 DGKH Synonymous SNV F133F 0.137 0.122 0.116 38 161 47 0.097 34 13 2 1 1 12.43 14958 chr3 112648127 112648127 T G rs4596117 CD200R1 Nonsynonymous SNV T121P 0.634 0.568 0.588 256 744 218 0.656 173 238 59 48 83 0.023 14959 chr3 58517520 58517520 A G rs57216393 ACOX2 Synonymous SNV H201H 0.049 0.031 0.027 12 57 12 0.031 8 0 0 0 1 0.04 14960 chr15 42579948 42579948 T C rs8037627 GANC Synonymous SNV N87N 0.995 1 0.99 387 1168 384 0.992 291 581 192 144 192 6.397 14961 chr13 42764564 42764564 C G rs7324235 DGKH Synonymous SNV P401P 0.257 0.25 0.259 84 302 96 0.215 76 43 15 10 8 11.78 14962 chr3 58552329 58552329 C G rs11539086 FAM107A Nonsynonymous SNV E141Q 0.055 0.049 0.054 29 64 19 0.074 16 0 0 0 1 14.77 14963 chr15 42585029 42585029 C T rs112976629 GANC Synonymous SNV D142D 0.029 0.026 0.061 16 34 10 0.041 18 1 1 1 1 13.18 14964 chr3 112648222 112648222 T C rs2171509 CD200R1 Nonsynonymous SNV K89R 0.634 0.568 0.588 256 744 218 0.656 173 238 59 48 83 0.001 14965 chr13 42875590 42875590 G A rs61752536 AKAP11 Nonsynonymous SNV R903H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.298 14966 chr15 42743910 42743910 T C ZNF106 Nonsynonymous SNV H164R 0 0 0.007 0 0 0 0 2 0 0 0 0 16.61 14967 chr15 42977526 42977526 A C rs6493059 STARD9 Synonymous SNV A1250A 0.216 0.24 0.231 85 253 92 0.218 68 24 7 7 6 0.108 14968 chr15 42977676 42977676 G A rs6493060 STARD9 Synonymous SNV Q1300Q 0.193 0.195 0.218 74 226 75 0.19 64 22 3 7 2 2.706 14969 chr13 43148546 43148546 C G rs138818878 TNFSF11 Nonsynonymous SNV P36R 0.023 0.016 0.02 3 27 6 0.008 6 0 0 0 0 Likely benign 17.61 14970 chr3 112727184 112727184 A T rs2306857 NEPRO Nonsynonymous SNV F190I 0.709 0.737 0.789 257 832 283 0.659 232 296 101 90 81 5.66 14971 chr13 32335880 32335880 G A rs9532479 RXFP2 Synonymous SNV A87A 0.072 0.068 0.082 20 84 26 0.051 24 0 4 1 1 10.79 14972 chr13 103275272 103275272 C T rs149008480 TPP2 Synonymous SNV T222T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.02 14973 chr15 42981022 42981022 A G rs28744617 STARD9 Nonsynonymous SNV M2416V 0.226 0.255 0.231 89 265 98 0.228 68 27 9 7 7 0.001 14974 chr13 32360583 32360583 A G rs9549106 RXFP2 Synonymous SNV L307L 0.187 0.154 0.184 85 219 59 0.218 54 23 7 6 9 1.395 14975 chr3 59908126 59908126 A G rs1385816 FHIT Synonymous SNV H42H 0.109 0.13 0.126 49 128 50 0.126 37 8 3 3 6 0.316 14976 chr15 42981806 42981806 G A rs8030587 STARD9 Nonsynonymous SNV R2677H 0.193 0.206 0.241 74 226 79 0.19 71 22 3 8 2 0.04 14977 chr13 32371361 32371361 A G rs17076657 RXFP2 Nonsynonymous SNV I580V 0.181 0.169 0.194 86 212 65 0.221 57 23 8 6 9 12.06 14978 chr3 113010466 113010466 T C rs2291905 CFAP44 Nonsynonymous SNV S1835G 0.745 0.742 0.738 315 875 285 0.808 217 327 103 79 126 0.346 14979 chr13 32786462 32786462 G A FRY Nonsynonymous SNV G1542D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 25.9 14980 chr13 25265271 25265271 C T rs12872010 ATP12A Synonymous SNV I323I 0.069 0.063 0.044 20 81 24 0.051 13 2 0 1 2 15.46 14981 chr3 62319048 62319048 A G rs114729571 C3orf14 Nonsynonymous SNV N124S 0.055 0.052 0.048 25 65 20 0.064 14 0 1 0 0 0.007 14982 chr13 113739226 113739226 T C rs2281723 MCF2L Synonymous SNV Y656Y 0.083 0.086 0.092 34 98 33 0.087 27 3 2 1 2 0.371 14983 chr15 42982340 42982340 C T rs8031218 STARD9 Nonsynonymous SNV T2855I 0.181 0.201 0.207 70 213 77 0.179 61 19 3 4 2 14.87 14984 chr3 113022870 113022870 T C rs4682484 CFAP44 Nonsynonymous SNV H1657R 0.983 0.992 0.98 384 1154 381 0.985 288 567 189 141 189 0.001 14985 chr12 93196332 93196332 C T rs61756483 EEA1 Nonsynonymous SNV E840K 0.02 0.023 0 10 23 9 0.026 0 0 0 0 0 23.7 14986 chr13 32811607 32811607 G A rs2806639 FRY Nonsynonymous SNV G1968S 0.269 0.286 0.306 74 316 110 0.19 90 39 21 13 7 15.05 14987 chr13 43469157 43469157 G A rs1128105 EPSTI1 Synonymous SNV S174S 0.345 0.339 0.289 139 405 130 0.356 85 77 19 15 30 12.38 14988 chr13 113750905 113750905 C G rs140657264 MCF2L Nonsynonymous SNV P1039R 0.018 0.016 0.037 5 21 6 0.013 11 1 0 0 0 32 14989 chr3 62358427 62358427 C A rs75941837 FEZF2 Synonymous SNV T39T 0.077 0.039 0.044 25 90 15 0.064 13 2 0 1 0 16.66 14990 chr3 113128051 113128051 G T rs13059888 CFAP44 Synonymous SNV P264P 0.213 0.216 0.211 99 250 83 0.254 62 21 9 11 12 0.978 14991 chr13 43469211 43469211 G A rs1359184 EPSTI1 Synonymous SNV G156G 0.358 0.339 0.289 144 420 130 0.369 85 85 19 15 30 11.77 14992 chr15 42983923 42983923 A G rs3742993 STARD9 Nonsynonymous SNV N3383D 0.182 0.195 0.19 69 214 75 0.177 56 18 3 3 2 0.003 14993 chr3 63601086 63601086 A G SYNPR Nonsynonymous SNV S243G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.421 14994 chr3 113320477 113320477 C T rs33990195 SIDT1 Nonsynonymous SNV T301I 0.185 0.214 0.177 66 217 82 0.169 52 21 7 7 6 23 14995 chr13 113777229 113777229 C T rs3211718 F10 Synonymous SNV L20L 0.012 0 0.014 0 14 0 0 4 1 0 0 0 Conflicting interpretations of pathogenicity 9.387 14996 chr15 43017426 43017426 T G rs16957091 CDAN1 Synonymous SNV L1158L 0.232 0.242 0.255 89 272 93 0.228 75 27 8 10 5 Benign 10.06 14997 chr3 63981635 63981635 C T rs3733125 ATXN7 Synonymous SNV L568L 0.095 0.073 0.078 28 111 28 0.072 23 6 0 0 0 Likely benign 12.31 14998 chr15 43020983 43020983 G A rs8023524 CDAN1 Nonsynonymous SNV R891C 0.164 0.185 0.194 62 192 71 0.159 57 16 3 3 1 Benign 32 14999 chr13 32811974 32811974 C T rs73169136 FRY Nonsynonymous SNV A2090V 0.014 0.013 0.01 8 17 5 0.021 3 0 0 0 0 21.7 15000 chr3 113323787 113323787 G A rs3732797 SIDT1 Synonymous SNV A394A 0.19 0.214 0.18 66 223 82 0.169 53 23 7 7 6 8.782 15001 chr13 43639845 43639845 A C rs3783044 DNAJC15 Synonymous SNV G44G 0.211 0.26 0.313 72 248 100 0.185 92 28 15 11 5 6.434 15002 chr3 113323793 113323793 C T rs3732796 SIDT1 Synonymous SNV P396P 0.043 0.057 0.02 20 50 22 0.051 6 1 1 0 1 10.67 15003 chr15 43023482 43023482 T C rs12917189 CDAN1 Nonsynonymous SNV Q596R 0.199 0.206 0.255 77 234 79 0.197 75 22 3 8 1 Benign 11.47 15004 chr3 113373930 113373930 A G rs930818 USF3 Nonsynonymous SNV V2200A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.52 15005 chr13 113825970 113825970 C T rs143760342 PROZ Nonsynonymous SNV R252W 0.003 0 0 0 3 0 0 0 0 0 0 0 16.46 15006 chr13 25442749 25442749 G A rs771123636 RNF17 Synonymous SNV S1387S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.12 15007 chr3 64009508 64009508 T C rs40610 PSMD6 Nonsynonymous SNV N2D 0.182 0.169 0.19 69 214 65 0.177 56 18 2 5 7 0.181 15008 chr13 44411432 44411432 A G rs9567280 CCDC122 Nonsynonymous SNV I148T 0.075 0.076 0.058 50 88 29 0.128 17 4 0 0 2 24.6 15009 chr15 43028592 43028592 G A rs7167392 CDAN1 Synonymous SNV P159P 0.214 0.232 0.228 83 251 89 0.213 67 24 7 6 5 Benign 10.81 15010 chr3 113376111 113376119 TGCTGCTGC - rs112313093 USF3 Q1476_Q1478del 0.318 0.383 0.119 154 373 147 0.395 35 60 24 9 30 15011 chr15 43028749 43028749 T A rs4265781 CDAN1 Nonsynonymous SNV Q107L 0.122 0.122 0.228 40 143 47 0.103 67 25 6 9 5 Benign 0.002 15012 chr12 9355206 9355206 C T rs140089121 PZP Synonymous SNV R114R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.196 15013 chr3 113377361 113377361 A G rs9813630 USF3 Synonymous SNV N1056N 0.32 0.383 0.289 154 376 147 0.395 85 60 24 10 29 0.003 15014 chr13 44457925 44457925 A G rs3764147 LACC1 Nonsynonymous SNV I254V 0.286 0.323 0.306 130 336 124 0.333 90 49 20 6 20 0.735 15015 chr3 113379865 113379865 G C rs9866806 USF3 Nonsynonymous SNV P222A 0.317 0.38 0.282 152 372 146 0.39 83 60 24 9 29 5.867 15016 chr3 64184397 64184397 G T rs696017 PRICKLE2-AS3 0.134 0.151 0.133 54 157 58 0.138 39 12 5 6 5 1.23 15017 chr15 44061802 44061802 C T rs1053492 PDIA3 Synonymous SNV H408H 0.681 0.664 0.663 254 800 255 0.651 195 279 87 65 80 13.14 15018 chr13 26043182 26043182 A C rs7317185 ATP8A2 Synonymous SNV G8G 0.157 0.161 0.136 43 184 62 0.11 40 17 5 2 2 Likely benign 8.906 15019 chr3 64184676 64184676 G A rs695937 PRICKLE2-AS3 0.277 0.326 0.306 106 325 125 0.272 90 41 25 15 10 5.13 15020 chr15 44120559 44120559 T G rs678084 WDR76 Nonsynonymous SNV S89A 0.848 0.81 0.799 311 996 311 0.797 235 421 129 96 123 13.64 15021 chr3 66287056 66287056 G A rs146159281 SLC25A26 Nonsynonymous SNV S41N 0.254 0.234 0.269 93 298 90 0.238 79 37 12 13 7 Benign 16.28 15022 chr3 113594377 113594377 A G rs13079383 GRAMD1C Synonymous SNV L102L 0.275 0.263 0.306 124 323 101 0.318 90 46 19 12 21 10.41 15023 chr13 114058352 114058387 GAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCC - LOC101928841 R1373_A1384del 0.011 0.01 0 9 13 4 0.023 0 0 0 0 0 15024 chr15 44966389 44966389 T C rs8026845 PATL2 Nonsynonymous SNV M88V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 15025 chr13 46067593 46067593 G A rs2985959 COG3 Synonymous SNV E433E 0.548 0.568 0.486 194 643 218 0.497 143 174 64 37 47 9.689 15026 chr3 113673125 113673125 A G rs11921691 ZDHHC23 Nonsynonymous SNV K247R 0.525 0.539 0.544 175 616 207 0.449 160 167 55 43 38 0.014 15027 chr13 114059640 114059640 G A rs78541124 LOC101928841 Synonymous SNV P955P 0.019 0.029 0 13 22 11 0.033 0 0 0 0 0 0.507 15028 chr12 94613898 94613898 G A rs115651556 PLXNC1 Nonsynonymous SNV R554Q 0.005 0.003 0.007 5 6 1 0.013 2 0 0 0 0 0.473 15029 chr13 26273403 26273403 C A rs7335858 ATP8A2 Synonymous SNV T728T 0.078 0.07 0.068 18 91 27 0.046 20 4 1 0 2 19.01 15030 chr13 114060456 114060456 C A rs145554461 LOC101928841 Nonsynonymous SNV K683N 0.01 0.023 0 13 12 9 0.033 0 0 0 0 0 5.711 15031 chr13 33628138 33628138 T G rs9536314 KL Nonsynonymous SNV F352V 0.165 0.182 0.153 77 194 70 0.197 45 18 5 4 9 Benign 26.8 15032 chr15 45047402 45047402 A G rs17588988 TRIM69 Nonsynonymous SNV K104R 0.039 0.029 0.058 11 46 11 0.028 17 0 0 1 0 12.94 15033 chr3 113858350 113858350 C T rs2251177 DRD3 Synonymous SNV Q240Q 0.997 1 0.99 386 1171 384 0.99 291 584 192 144 191 Benign 12.7 15034 chr3 66434643 66434643 T C rs2306272 LRIG1 Nonsynonymous SNV M615V 0.313 0.294 0.262 142 367 113 0.364 77 62 20 10 27 Benign 11.61 15035 chr13 26624935 26624935 C T rs111516934 SHISA2 Nonsynonymous SNV G60D 0.154 0.117 0.204 62 181 45 0.159 60 12 3 11 3 20.4 15036 chr13 114061368 114061368 A C rs116656416 LOC101928841 Synonymous SNV T379T 0.018 0.034 0 13 21 13 0.033 0 0 0 0 0 2.642 15037 chr3 113890815 113890815 C T rs6280 DRD3 Nonsynonymous SNV G9S 0.63 0.589 0.646 241 740 226 0.618 190 227 65 59 75 Benign/Likely benign 3.761 15038 chr15 45048651 45048651 C T rs3759880 TRIM69 Nonsynonymous SNV A31V 0.081 0.081 0.102 36 95 31 0.092 30 1 1 4 1 10.1 15039 chr13 33628193 33628193 G C rs9527025 KL Nonsynonymous SNV C370S 0.165 0.182 0.153 77 194 70 0.197 45 18 5 4 9 Benign 6.934 15040 chr13 114078558 114078558 A C rs41306688 ADPRHL1 Nonsynonymous SNV L294R 0.022 0.044 0.02 15 26 17 0.038 6 0 0 0 0 27.8 15041 chr3 113955164 113955164 T G rs3732782 ZNF80 Nonsynonymous SNV D253A 0.665 0.672 0.656 244 781 258 0.626 193 250 87 64 77 0.048 15042 chr15 45392075 45392075 G A rs269868 DUOX2 Nonsynonymous SNV S1067L 0.928 0.935 0.915 365 1090 359 0.936 269 505 168 125 170 Benign 23 15043 chr13 33628239 33628239 G A rs9527026 KL Synonymous SNV K385K 0.165 0.182 0.153 77 194 70 0.197 45 18 5 4 9 Benign 4.273 15044 chr13 114107711 114107711 G A rs145442241 ADPRHL1 Synonymous SNV G14G 0.003 0.005 0.003 5 3 2 0.013 1 0 0 0 0 6.845 15045 chr15 45400358 45400358 C G rs269860 DUOX2 Synonymous SNV G487G 0.982 0.979 0.969 381 1153 376 0.977 285 566 184 139 186 Benign 13.54 15046 chr13 111932944 111932944 G A rs116938571 ARHGEF7 Nonsynonymous SNV V314M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 15047 chr3 113955265 113955265 G A rs6438190 ZNF80 Synonymous SNV C219C 0.665 0.672 0.656 244 781 258 0.626 193 250 87 64 77 1.269 15048 chr15 45408414 45408414 C G rs2576090 DUOXA2 Nonsynonymous SNV R100G 0.998 1 0.99 389 1172 384 0.997 291 585 192 144 194 Benign 12.32 15049 chr13 46115731 46115731 C A rs1536207 ERICH6B Nonsynonymous SNV V653F 0.5 0.523 0.459 185 587 201 0.474 135 139 55 32 48 2.912 15050 chr3 113955320 113955320 C T rs6438191 ZNF80 Nonsynonymous SNV R201H 0.665 0.672 0.656 244 781 258 0.626 193 250 87 64 77 12.79 15051 chr13 28239838 28239838 T C rs41291678 POLR1D Synonymous SNV L11L 0.014 0.013 0.034 3 17 5 0.008 10 0 0 0 0 Benign 0.463 15052 chr3 67054649 67054649 T C rs13096789 KBTBD8 Nonsynonymous SNV C420R 0.104 0.104 0.088 35 122 40 0.09 26 4 3 0 1 18.76 15053 chr15 45467540 45467540 C G rs1632144 SHF Nonsynonymous SNV A242P 0.991 1 0.976 386 1163 384 0.99 287 576 192 142 191 18.22 15054 chr13 28239970 28239970 G A rs14105 POLR1D Synonymous SNV P55P 0.35 0.305 0.34 124 411 117 0.318 100 80 18 22 18 9.313 15055 chr13 46170609 46170609 C T rs3014939 ERICH6B Nonsynonymous SNV E178K 0.431 0.427 0.31 155 506 164 0.397 91 115 34 22 34 8.211 15056 chr3 113955820 113955820 G C rs3732780 ZNF80 Synonymous SNV S34S 0.245 0.247 0.248 85 288 95 0.218 73 29 8 12 6 0.025 15057 chr13 28240075 28240075 G T rs75314566 POLR1D Synonymous SNV R90R 0.013 0.01 0.034 3 15 4 0.008 10 0 0 0 0 Benign 6.239 15058 chr15 45491136 45491136 C G rs62026667 SHF Nonsynonymous SNV W46S 0.117 0.109 0.112 51 137 42 0.131 33 8 2 1 1 12.08 15059 chr3 118621664 118621664 C A rs36052974 IGSF11 Nonsynonymous SNV E333D 0.164 0.167 0.184 74 192 64 0.19 54 20 6 6 7 12.23 15060 chr13 46170720 46170737 CCAGATACTCTTCCTCCT - rs142875900 ERICH6B E135_L140del 0.431 0.427 0.245 155 506 164 0.397 72 114 34 20 34 15061 chr15 45554267 45554267 C A rs1060896 SLC28A2 Nonsynonymous SNV S75R 0.572 0.586 0.575 237 671 225 0.608 169 189 68 50 76 6.019 15062 chr13 46288017 46288017 C A rs79707842 CBY2 Stop gain S259X 0.065 0.065 0.088 18 76 25 0.046 26 4 1 1 1 35 15063 chr3 118649060 118649060 G T rs2903250 IGSF11 Nonsynonymous SNV P39T 0.751 0.766 0.684 290 882 294 0.744 201 331 119 71 105 13.15 15064 chr13 36049456 36049456 T C rs45612732 MAB21L1 Nonsynonymous SNV M274V 0.011 0.013 0 8 13 5 0.021 0 0 0 0 0 12.66 15065 chr13 36401838 36401838 A G rs35734430 DCLK1 Synonymous SNV N140N 0.04 0.044 0.024 26 47 17 0.067 7 0 0 0 0 0.798 15066 chr13 46288145 46288145 A G rs7317245 CBY2 Nonsynonymous SNV K302E 0.623 0.648 0.626 232 731 249 0.595 184 260 97 60 75 0.008 15067 chr15 45654327 45654327 A G rs1145086 GATM Synonymous SNV L418L 0.459 0.451 0.486 167 539 173 0.428 143 126 41 34 39 Benign 6.338 15068 chr13 103513944 103513944 A G rs1047769 BIVM-ERCC5, ERCC5 Nonsynonymous SNV M254V 0.082 0.073 0.058 23 96 28 0.059 17 4 1 0 0 Benign 24 15069 chr3 118865332 118865332 A G rs11550908 TEX55 Nonsynonymous SNV D99G 0.142 0.141 0.129 49 167 54 0.126 38 12 2 4 0 15.62 15070 chr15 45661678 45661678 T A rs1288775 GATM Nonsynonymous SNV Q110H 0.337 0.307 0.303 124 396 118 0.318 89 71 20 14 19 Benign 12.24 15071 chr13 46541673 46541673 T A rs9534264 ZC3H13 Nonsynonymous SNV E1429D 0.583 0.609 0.561 259 684 234 0.664 165 188 74 50 86 0.01 15072 chr3 118865609 118865609 C T rs10934483 TEX55 Synonymous SNV S191S 0.142 0.141 0.129 49 167 54 0.126 38 12 2 4 0 10.7 15073 chr15 45695382 45695382 G A rs7182723 SPATA5L1 Nonsynonymous SNV R252Q 0.319 0.297 0.255 121 374 114 0.31 75 71 19 12 19 25.7 15074 chr13 46562935 46562935 A G rs1134071 ZC3H13 Synonymous SNV H414H 0.586 0.609 0.605 261 688 234 0.669 178 189 74 52 88 4.699 15075 chr13 113530199 113530199 G A rs11616795 ATP11A Nonsynonymous SNV V1091I 0.126 0.107 0.16 55 148 41 0.141 47 14 1 5 2 0.237 15076 chr3 69271032 69271032 G A rs62254461 FRMD4B Synonymous SNV L236L 0.166 0.146 0.133 51 195 56 0.131 39 11 4 3 2 11.76 15077 chr3 118866376 118866376 C T rs56317615 TEX55 Nonsynonymous SNV S447L 0.372 0.357 0.35 130 437 137 0.333 103 74 25 19 17 11.48 15078 chr13 46584582 46584582 C T rs144881601 ZC3H13 Nonsynonymous SNV S216N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.1 15079 chr13 28608459 28608459 T C rs34374211 FLT3 Synonymous SNV L561L 0.039 0.023 0.041 15 46 9 0.038 12 0 0 1 0 0.007 15080 chr15 45695695 45695695 G A rs1153849 SPATA5L1 Synonymous SNV R356R 0.284 0.281 0.323 110 333 108 0.282 95 71 20 14 18 9.957 15081 chr13 115047305 115047305 G A rs3752105 UPF3A Nonsynonymous SNV R64K 0.201 0.227 0.207 97 236 87 0.249 61 32 15 6 12 0.144 15082 chr12 968522 968522 A G rs56325964 WNK1 Synonymous SNV L504L 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 7.058 15083 chr15 45779810 45779810 G A rs2453531 SLC30A4 Synonymous SNV D305D 0.695 0.688 0.69 288 816 264 0.738 203 278 90 65 109 8.928 15084 chr3 118867047 118867047 C G rs9289122 TEX55 Nonsynonymous SNV D473E 0.426 0.435 0.408 176 500 167 0.451 120 102 34 23 34 0.003 15085 chr12 968536 968536 T C rs34728563 WNK1 Nonsynonymous SNV I509T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 15.28 15086 chr15 45781192 45781192 G A rs75456688 SLC30A4 Synonymous SNV H247H 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 6.155 15087 chr13 46638844 46638844 A G rs145262149 CPB2 Synonymous SNV Y208Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 0.013 15088 chr15 45981317 45981317 G A rs10643 SQOR Synonymous SNV P399P 0.164 0.169 0.153 71 192 65 0.182 45 11 10 4 6 10.19 15089 chr13 46705068 46705068 C T rs11558762 LCP1 Synonymous SNV P544P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.3 15090 chr3 118909159 118909159 A G rs9840317 UPK1B Nonsynonymous SNV Q113R 0.952 0.974 0.929 370 1118 374 0.949 273 531 182 128 175 9.649 15091 chr15 48443699 48443699 T C rs2470103 MYEF2 Nonsynonymous SNV Q426R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.917 15092 chr12 96900801 96900801 G T rs61730867 CFAP54 Synonymous SNV L221L 0.044 0.055 0.068 20 52 21 0.051 20 1 1 0 1 0.991 15093 chr13 36857639 36857639 T C rs1998800 CCDC169 Synonymous SNV L94L 0.296 0.284 0.194 107 348 109 0.274 57 50 17 6 10 9.702 15094 chr13 28674628 28674628 T C rs12872889 FLT3 Nonsynonymous SNV D7G 0.191 0.216 0.289 82 224 83 0.21 85 33 11 14 12 16.24 15095 chr15 48460927 48460927 C T rs8023906 MYEF2 Nonsynonymous SNV A91T 1 1 0.976 389 1174 384 0.997 287 587 192 143 194 7.679 15096 chr3 118948716 118948716 G A rs4422294 B4GALT4 Synonymous SNV C77C 0.349 0.419 0.316 141 410 161 0.362 93 66 38 14 27 6.348 15097 chr13 36886469 36886469 T C rs2274293 SPART Synonymous SNV A543A 0.297 0.276 0.235 107 349 106 0.274 69 50 16 6 10 Benign 6.566 15098 chr12 97015375 97015375 G A rs573060035 CFAP54 Nonsynonymous SNV R1216H 0.013 0.008 0.003 2 15 3 0.005 1 0 0 0 0 23.6 15099 chr13 20716124 20716124 A G GJA3 Nonsynonymous SNV I435T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.2 15100 chr3 119118104 119118104 A G rs4688001 ARHGAP31 Synonymous SNV V355V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 9.637 15101 chr15 48539587 48539587 T C rs6493311 SLC12A1 Synonymous SNV Y538Y 0.216 0.208 0.224 85 253 80 0.218 66 29 8 5 9 Benign 0.014 15102 chr13 113979972 113979972 - CACT rs150462856 GRTP1 Frameshift insertion C309Sfs*25 0.009 0.008 0.017 0 10 3 0 5 0 0 1 0 15103 chr3 119305379 119305379 T A rs25676 ADPRH Synonymous SNV A75A 0.372 0.349 0.384 145 437 134 0.372 113 89 19 18 26 7.156 15104 chr15 48580713 48580713 T C rs1552311 SLC12A1 Nonsynonymous SNV V958A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign/Likely benign 0.536 15105 chr3 73433369 73433369 G A rs3205537 PDZRN3 Nonsynonymous SNV A481V 0.385 0.357 0.327 144 452 137 0.369 96 97 25 16 25 2.927 15106 chr13 28893642 28893642 A G rs2296189 FLT1 Synonymous SNV P1068P 0.233 0.211 0.238 84 273 81 0.215 70 32 8 7 9 not provided 11.1 15107 chr3 119327653 119327653 T C rs1723969 PLA1A Synonymous SNV F104F 0.215 0.198 0.204 56 252 76 0.144 60 25 8 6 5 0.036 15108 chr15 48807637 48807637 C T rs4775765 FBN1 Nonsynonymous SNV C472Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 15.61 15109 chr3 119327670 119327670 G A rs61733987 PLA1A Nonsynonymous SNV R110H 0.055 0.047 0.037 9 64 18 0.023 11 2 0 1 0 0.056 15110 chr3 73433494 73433494 T C rs13091636 PDZRN3 Synonymous SNV S439S 0.514 0.5 0.439 192 603 192 0.492 129 164 47 27 47 0.295 15111 chr13 39598616 39598616 G A rs61945763 PROSER1 Synonymous SNV S164S 0.1 0.104 0.109 43 117 40 0.11 32 9 2 3 4 13.4 15112 chr3 73453325 73453325 C T rs2291463 PDZRN3 Synonymous SNV V78V 0.553 0.576 0.585 223 649 221 0.572 172 181 59 54 65 7.594 15113 chr15 49293194 49293194 C A rs11854184 SECISBP2L Nonsynonymous SNV V665L 0.161 0.161 0.228 63 189 62 0.162 67 17 6 5 6 20.2 15114 chr3 119367390 119367390 T C rs2688643 POPDC2 Synonymous SNV S242S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.323 15115 chr3 119378872 119378872 G A rs1880040 POPDC2 Synonymous SNV C133C 0.39 0.393 0.378 161 458 151 0.413 111 91 34 19 35 8.966 15116 chr13 21429874 21429874 T C rs61737207 XPO4 Synonymous SNV L116L 0.08 0.104 0.044 31 94 40 0.079 13 4 1 0 0 7.08 15117 chr15 50152583 50152583 G T rs4774549 ATP8B4 Synonymous SNV G1129G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.719 15118 chr13 114309237 114309237 C T rs142885298 ATP4B Nonsynonymous SNV V45M 0.014 0.013 0.01 3 17 5 0.008 3 0 0 0 0 29.5 15119 chr3 119379186 119379186 C T rs4688023 POPDC2 Nonsynonymous SNV V29I 0.391 0.391 0.378 161 459 150 0.413 111 92 33 19 35 0.004 15120 chr13 21562371 21562371 C T rs59928188 LATS2 Synonymous SNV P516P 0.052 0.039 0.034 13 61 15 0.033 10 2 0 0 0 19.54 15121 chr15 50189566 50189566 A G rs74012834 ATP8B4 Nonsynonymous SNV C874R 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 5.911 15122 chr3 119426307 119426307 T C rs9848716 MAATS1 Synonymous SNV Y24Y 0.739 0.711 0.714 294 868 273 0.754 210 325 99 75 114 0.334 15123 chr13 109793424 109793424 G T rs113648411 MYO16 Nonsynonymous SNV A1622S 0.072 0.07 0.058 29 85 27 0.074 17 3 2 1 1 0.15 15124 chr15 50226313 50226313 G T rs2452524 ATP8B4 Nonsynonymous SNV H452N 0.732 0.714 0.718 296 859 274 0.759 211 312 102 75 112 0.006 15125 chr3 119434527 119434527 G C rs6438544 MAATS1 Nonsynonymous SNV A81P 0.997 1 0.986 388 1170 384 0.995 290 583 192 143 193 14.58 15126 chr13 39263731 39263731 C T rs41292755 FREM2 Synonymous SNV D750D 0.092 0.094 0.129 48 108 36 0.123 38 6 1 4 4 Benign/Likely benign 10.67 15127 chr15 50474766 50474766 A C rs1648348 SLC27A2 Nonsynonymous SNV K48Q 0.592 0.596 0.602 224 695 229 0.574 177 205 70 53 71 0.038 15128 chr3 119533910 119533910 T C rs4058490 NR1I2 Synonymous SNV N293N 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 0.26 15129 chr15 50773755 50773755 G A rs3131561 USP8 Synonymous SNV Q355Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.345 15130 chr3 119886548 119886548 G C rs9858566 GPR156 Synonymous SNV L588L 0.934 0.927 0.905 354 1097 356 0.908 266 514 164 121 160 11.44 15131 chr13 110435231 110435231 C T rs1805097 IRS2 Nonsynonymous SNV G1057D 0.224 0.221 0.357 92 263 85 0.236 105 42 12 17 13 risk factor 0.037 15132 chr3 96533681 96533681 A G rs373432052 EPHA6 Nonsynonymous SNV T72A 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 9.522 15133 chr15 50867082 50867082 G A rs473357 TRPM7 Synonymous SNV Y1661Y 0.637 0.669 0.626 250 748 257 0.641 184 245 87 57 81 0.447 15134 chr12 971378 971378 T C rs61736905 WNK1 Nonsynonymous SNV I694T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 3.922 15135 chr15 50878630 50878630 G A rs8042919 TRPM7 Nonsynonymous SNV T1482I 0.12 0.102 0.122 39 141 39 0.1 36 9 3 2 3 Uncertain significance 16.62 15136 chr3 119886776 119886776 T A rs902790 GPR156 Nonsynonymous SNV E512D 0.934 0.927 0.905 354 1097 356 0.908 266 514 164 121 160 0.002 15137 chr13 50050620 50050620 A G rs7998427 SETDB2, SETDB2-PHF11 Nonsynonymous SNV E105G 0.682 0.648 0.66 272 801 249 0.697 194 276 79 67 100 1.406 15138 chr13 21729952 21729952 - A rs11446085 SKA3 0.244 0.323 0.15 104 286 124 0.267 44 32 22 7 6 15139 chr13 31480720 31480720 G A rs71436423 MEDAG Nonsynonymous SNV R23H 0.158 0.096 0.119 57 186 37 0.146 35 23 2 2 3 28.5 15140 chr15 51217361 51217361 T C rs2306331 AP4E1 Nonsynonymous SNV C88R 0.465 0.471 0.432 178 546 181 0.456 127 123 41 28 41 Benign 6.486 15141 chr13 114782779 114782779 G A rs61749934 RASA3 Synonymous SNV I348I 0.147 0.143 0.221 68 172 55 0.174 65 13 4 8 7 16.24 15142 chr3 119887046 119887046 C T rs200523370 GPR156 Synonymous SNV S422S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 15143 chr13 50057097 50057097 G A rs2057413 SETDB2, SETDB2-PHF11 Nonsynonymous SNV V461M 0.67 0.622 0.697 268 786 239 0.687 205 297 83 72 101 4.184 15144 chr13 39586343 39586343 G C rs9576697 PROSER1 Synonymous SNV G841G 0.152 0.159 0.187 68 179 61 0.174 55 13 5 6 6 11.76 15145 chr3 120067797 120067797 G A rs4676696 LRRC58 Synonymous SNV A98A 0.29 0.286 0.293 112 341 110 0.287 86 58 19 13 18 12.61 15146 chr13 110436418 110436418 G A rs148008220 IRS2 Synonymous SNV A661A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.186 15147 chr15 51294832 51294832 G A rs3825798 AP4E1 Synonymous SNV Q1054Q 0.198 0.224 0.187 79 233 86 0.203 55 24 12 4 5 Benign 5.873 15148 chr13 23824818 23824818 G A rs17314986 SGCG Nonsynonymous SNV R116H 0.171 0.185 0.153 59 201 71 0.151 45 11 6 3 5 Benign/Likely benign 23.9 15149 chr13 19753686 19753686 G A rs36215074 TUBA3C Synonymous SNV I7I 0.047 0.044 0.024 18 55 17 0.046 7 3 1 0 0 7.328 15150 chr13 39587166 39587166 A G rs11147745 PROSER1 Synonymous SNV P719P 0.154 0.159 0.187 68 181 61 0.174 55 13 5 6 6 0.519 15151 chr15 51514572 51514572 G A rs28757184 CYP19A1 Nonsynonymous SNV T201M 0.019 0.029 0.034 13 22 11 0.033 10 0 0 0 0 Benign 7.205 15152 chr13 50057633 50057633 A G rs11619265 SETDB2, SETDB2-PHF11 Synonymous SNV Q472Q 0.493 0.451 0.452 206 579 173 0.528 133 162 44 37 61 0.007 15153 chr3 120389316 120389316 T A rs2255543 HGD Nonsynonymous SNV Q80H 0.739 0.792 0.738 322 867 304 0.826 217 320 126 84 133 Benign 5.1 15154 chr13 39587677 39587677 A G rs3751379 PROSER1 Nonsynonymous SNV V549A 0.178 0.174 0.207 73 209 67 0.187 61 18 7 8 8 0.002 15155 chr13 50080847 50080847 A G rs2031532 PHF11, SETDB2-PHF11 Synonymous SNV L57L 0.639 0.583 0.622 259 750 224 0.664 183 240 64 59 83 0.818 15156 chr15 51529112 51529112 T C rs700518 CYP19A1 Synonymous SNV V80V 0.438 0.487 0.391 173 514 187 0.444 115 111 51 26 36 Benign 6.814 15157 chr13 42259195 42259195 T G rs78161810 VWA8 Nonsynonymous SNV I1439L 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 Benign 16.55 15158 chr3 121154974 121154974 T C rs1381057 POLQ Nonsynonymous SNV Q2513R 0.685 0.641 0.714 254 804 246 0.651 210 269 77 75 81 0.002 15159 chr13 39587865 39587865 A C rs3751378 PROSER1 Synonymous SNV S486S 0.152 0.159 0.187 68 179 61 0.174 55 13 5 6 6 3.294 15160 chr15 51783820 51783820 T C rs10851500 DMXL2 Synonymous SNV G1000G 0.431 0.427 0.425 172 506 164 0.441 125 91 35 30 34 0.084 15161 chr15 51791559 51791559 A G rs12102203 DMXL2 Nonsynonymous SNV S1288P 0.432 0.427 0.432 172 507 164 0.441 127 91 35 30 34 0.123 15162 chr13 39587889 39587889 T C rs3751377 PROSER1 Synonymous SNV L478L 0.152 0.159 0.187 68 179 61 0.174 55 13 5 6 6 0.468 15163 chr3 121208176 121208176 T C rs3218651 POLQ Nonsynonymous SNV H1201R 0.118 0.122 0.112 30 139 47 0.077 33 9 5 3 0 0.005 15164 chr13 23904936 23904936 T C SACS Nonsynonymous SNV N4213S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.12 15165 chr13 40175311 40175311 G A rs34616166 LHFPL6 Synonymous SNV L15L 0.009 0.003 0 1 10 1 0.003 0 1 0 0 0 7.255 15166 chr15 51795172 51795172 G A rs12592889 DMXL2 Synonymous SNV N941N 0.432 0.427 0.429 170 507 164 0.436 126 91 35 29 34 10.64 15167 chr13 41134629 41134629 G A rs139436481 FOXO1 Synonymous SNV T333T 0.014 0.018 0.007 2 17 7 0.005 2 0 0 0 0 Benign 10.82 15168 chr15 51914662 51914662 G A rs2278990 DMXL2 Synonymous SNV P27P 0.428 0.419 0.432 170 502 161 0.436 127 91 34 30 33 11.14 15169 chr3 121208833 121208833 G C rs3218649 POLQ Nonsynonymous SNV T982R 0.607 0.576 0.626 227 713 221 0.582 184 213 63 58 65 0.002 15170 chr13 50204975 50204975 C T rs147120792 ARL11 Nonsynonymous SNV P131L 0.037 0.034 0.027 17 43 13 0.044 8 1 0 1 0 21 15171 chr13 41373254 41373254 G A rs41396747 SLC25A15 Synonymous SNV T39T 0.079 0.078 0.078 37 93 30 0.095 23 3 0 2 1 Benign/Likely benign 9.477 15172 chr15 51914716 51914716 T C rs2278989 DMXL2 Synonymous SNV G9G 0.428 0.419 0.432 170 502 161 0.436 127 91 34 30 33 7.37 15173 chr3 97677974 97677974 G A rs56183666 RIOX2 Nonsynonymous SNV P201L 0.007 0.016 0.014 5 8 6 0.013 4 0 0 0 0 32 15174 chr15 52404862 52404862 A C rs2231292 BCL2L10 Nonsynonymous SNV L21R 0.327 0.281 0.337 123 384 108 0.315 99 67 17 25 23 0.001 15175 chr13 41379272 41379272 C T rs9577152 SLC25A15 Synonymous SNV A111A 0.081 0.078 0.085 37 95 30 0.095 25 4 0 2 1 Benign/Likely benign 17.04 15176 chr3 121208894 121208894 T C rs3218636 POLQ Nonsynonymous SNV S962G 0.012 0.013 0.014 2 14 5 0.005 4 1 0 0 0 0.042 15177 chr13 50205025 50205025 T C rs3803185 ARL11 Nonsynonymous SNV C148R 0.512 0.443 0.463 207 601 170 0.531 136 152 42 35 56 0.001 15178 chr15 52531941 52531941 A G rs11635028 MYO5C Synonymous SNV L898L 0.915 0.927 0.898 372 1074 356 0.954 264 490 166 119 177 4.918 15179 chr15 52534344 52534344 G A rs3751631 MYO5C Synonymous SNV R819R 0.804 0.807 0.796 315 944 310 0.808 234 376 125 94 123 4.344 15180 chr3 121238749 121238749 G A rs702018 POLQ Synonymous SNV G479G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.6 15181 chr15 52539673 52539673 C T rs10163109 MYO5C Synonymous SNV R621R 0.991 0.987 0.986 387 1163 379 0.992 290 576 187 143 192 14.74 15182 chr13 32351535 32351535 A C rs121918303 RXFP2 Nonsynonymous SNV T222P 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Uncertain significance 17.61 15183 chr15 52556429 52556429 A G rs4776032 MYO5C Synonymous SNV N335N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.296 15184 chr3 121238863 121238863 C T rs35766343 POLQ Synonymous SNV A441A 0.066 0.049 0.075 24 77 19 0.062 22 1 0 1 1 18.26 15185 chr13 50656582 50656582 T A rs2066575 DLEU1 0.168 0.201 0.197 91 197 77 0.233 58 21 3 7 10 0.284 15186 chr3 121258368 121258368 G A rs36065146 POLQ Synonymous SNV F181F 0.076 0.063 0.075 27 89 24 0.069 22 1 0 1 1 7.091 15187 chr15 52643564 52643564 G A rs1058219 MYO5A Nonsynonymous SNV R1246C 0.198 0.229 0.17 89 232 88 0.228 50 17 10 3 10 Benign 25.4 15188 chr13 42876833 42876833 G A rs61755975 AKAP11 Synonymous SNV P1317P 0.014 0.008 0.017 1 17 3 0.003 5 0 0 0 0 Likely benign 3.79 15189 chr3 121263720 121263720 C A rs702017 POLQ Nonsynonymous SNV R66I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.389 15190 chr13 51417535 51417535 G A rs898861 DLEU7 Nonsynonymous SNV A83V 0.173 0.208 0.153 83 203 80 0.213 45 13 10 7 12 13.47 15191 chr13 41705130 41705130 C T rs61732683 KBTBD6 Synonymous SNV K506K 0.014 0.008 0.02 8 17 3 0.021 6 0 0 0 0 5.76 15192 chr15 52667552 52667552 G A rs2414145 MYO5A Synonymous SNV I842I 0.986 0.987 0.98 387 1157 379 0.992 288 570 187 142 192 14.31 15193 chr15 52689526 52689526 T C rs2924130 MYO5A Synonymous SNV T397T 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.014 15194 chr13 32776153 32776153 T C rs9567420 FRY Synonymous SNV Y1274Y 0.053 0.042 0.041 20 62 16 0.051 12 0 0 0 1 0.647 15195 chr3 121350966 121350966 C G rs9869984 HCLS1 Nonsynonymous SNV V399L 0.999 0.995 0.997 389 1173 382 0.997 293 586 190 146 194 1.14 15196 chr13 51941943 51941943 T C rs61749884 INTS6 Synonymous SNV S856S 0.01 0.016 0 3 12 6 0.008 0 0 1 0 0 10.31 15197 chr15 52689631 52689631 T G rs1724577 MYO5A Nonsynonymous SNV E362D 0.986 0.987 0.983 387 1157 379 0.992 289 570 187 142 192 1.039 15198 chr13 32776616 32776616 T A rs61750791 FRY Nonsynonymous SNV C1324S 0.053 0.042 0.041 20 62 16 0.051 12 0 0 0 1 0.032 15199 chr13 111121620 111121620 C T rs9583500 COL4A2 Nonsynonymous SNV P718S 0.234 0.25 0.231 93 275 96 0.238 68 32 16 9 12 Benign 8.811 15200 chr13 51956225 51956225 T G rs61749885 INTS6 Synonymous SNV T405T 0.011 0.016 0.01 3 13 6 0.008 3 0 1 0 0 10.79 15201 chr3 121351338 121351338 C T rs2070180 HCLS1 Nonsynonymous SNV E324K 0.187 0.221 0.259 84 219 85 0.215 76 17 7 8 7 20.9 15202 chr3 97852229 97852229 T A rs9849637 OR5H1 Nonsynonymous SNV S230T 0.165 0.172 0.119 67 194 66 0.172 35 15 3 2 4 23.1 15203 chr13 52365354 52365354 G T rs61729904 DHRS12 Nonsynonymous SNV Q56K 0.11 0.122 0.112 37 129 47 0.095 33 9 3 3 1 0.001 15204 chr15 52901283 52901283 T C rs61731670 FAM214A Nonsynonymous SNV T617A 0.141 0.133 0.126 48 166 51 0.123 37 15 3 3 3 0.002 15205 chr3 97887833 97887833 G A rs146412623 OR5H15 Nonsynonymous SNV C97Y 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 23.6 15206 chr3 121353254 121353254 T C rs2070179 HCLS1 Nonsynonymous SNV T198A 0.742 0.745 0.735 298 871 286 0.764 216 341 108 77 112 10.25 15207 chr15 52901284 52901284 T C rs58018557 FAM214A Synonymous SNV S616S 0.152 0.138 0.143 50 179 53 0.128 42 15 3 4 3 0.002 15208 chr13 52515354 52515354 A G rs1801249 ATP7B Nonsynonymous SNV V933A 0.616 0.612 0.639 231 723 235 0.592 188 230 76 60 66 Benign 0.049 15209 chr13 24823699 24823699 G A rs41287016 SPATA13 Nonsynonymous SNV G580S 0.086 0.078 0.116 38 101 30 0.097 34 5 3 4 2 23.2 15210 chr15 52901638 52901638 T C rs3751614 FAM214A Synonymous SNV Q498Q 0.748 0.742 0.731 287 878 285 0.736 215 323 108 77 105 0.025 15211 chr13 100622668 100622673 GGCGGC - ZIC5 P423_P424del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15212 chr13 100635377 100635377 C T rs1831992 ZIC2 Synonymous SNV H353H 0.116 0.115 0.116 56 136 44 0.144 34 3 3 3 4 Benign 8.566 15213 chr3 121363680 121363680 C T rs34440810 HCLS1 Synonymous SNV R128R 0.067 0.078 0.095 30 79 30 0.077 28 1 1 3 2 17.77 15214 chr15 52901977 52901977 G A rs2414166 FAM214A Synonymous SNV A385A 0.747 0.742 0.728 287 877 285 0.736 214 323 108 76 105 5.533 15215 chr13 52520471 52520471 C T rs1801247 ATP7B Synonymous SNV A796A 0.061 0.068 0.061 37 72 26 0.095 18 3 0 1 2 Benign 9.648 15216 chr15 53994493 53994493 A G rs6416452 WDR72 Synonymous SNV Y469Y 0.494 0.388 0.456 179 580 149 0.459 134 149 31 30 36 Benign 0.018 15217 chr3 121415610 121415610 G A rs33988592 GOLGB1 Nonsynonymous SNV P1174S 0.187 0.221 0.265 84 219 85 0.215 78 17 7 8 7 0.026 15218 chr15 54003066 54003066 C A rs12905755 WDR72 Synonymous SNV V314V 0.044 0.023 0.051 22 52 9 0.056 15 2 0 1 2 Uncertain significance 12.57 15219 chr13 52523808 52523808 C T rs732774 ATP7B Nonsynonymous SNV R868K 0.616 0.612 0.633 231 723 235 0.592 186 230 76 59 66 Benign 17 15220 chr15 54003091 54003091 G A rs551225 WDR72 Nonsynonymous SNV P306L 0.481 0.591 0.548 202 565 227 0.518 161 138 67 40 46 Benign/Likely benign 24.8 15221 chr3 121435621 121435621 T C rs9832267 GOLGB1 Synonymous SNV Q337Q 0.752 0.75 0.738 296 883 288 0.759 217 337 106 77 110 0.007 15222 chr13 44457984 44457984 A G rs9533673 LACC1 Synonymous SNV R273R 0.125 0.128 0.085 48 147 49 0.123 25 9 1 1 1 6.337 15223 chr13 52524488 52524488 T C rs1061472 ATP7B Nonsynonymous SNV K670R 0.614 0.612 0.639 231 721 235 0.592 188 229 76 60 66 Benign 22.2 15224 chr15 54008845 54008845 T C rs690346 WDR72 Nonsynonymous SNV M100V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 2.367 15225 chr3 121435624 121435624 C T rs9812411 GOLGB1 Synonymous SNV E336E 0.752 0.75 0.738 296 883 288 0.759 217 337 106 77 110 6.382 15226 chr13 111286939 111286939 C T rs9521879 NAXD Synonymous SNV D71D 0.035 0.021 0.014 12 41 8 0.031 4 0 0 0 1 12.03 15227 chr3 121507231 121507231 A T rs1141528 IQCB1 Nonsynonymous SNV I260N 0.078 0.083 0.099 31 91 32 0.079 29 3 1 3 2 Benign 24.8 15228 chr13 52598799 52598799 G A rs61958802 ALG11 Synonymous SNV P311P 0.061 0.065 0.065 28 72 25 0.072 19 2 0 1 1 Benign 9.283 15229 chr15 54306925 54306925 G A rs12437941 UNC13C Nonsynonymous SNV G609S 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.002 15230 chr15 54841874 54841874 A G rs9302181 UNC13C Synonymous SNV Q1954Q 0.405 0.409 0.391 168 476 157 0.431 115 94 32 25 34 7.311 15231 chr3 121526204 121526204 G A rs4543051 IQCB1 Synonymous SNV L192L 0.526 0.557 0.272 200 617 214 0.513 80 176 67 33 51 Benign 8.005 15232 chr15 54847677 54847677 C T rs11639005 UNC13C Synonymous SNV C1975C 0.416 0.424 0.425 175 488 163 0.449 125 97 38 27 38 13.88 15233 chr3 121641693 121641693 G A rs2293616 SLC15A2 Synonymous SNV A253A 0.376 0.458 0.398 156 442 176 0.4 117 82 43 21 30 14.66 15234 chr15 54919047 54919047 A G rs1520411 UNC13C Synonymous SNV R2127R 0.663 0.654 0.694 273 778 251 0.7 204 263 81 72 99 9.222 15235 chr3 121643804 121643804 C T rs2257212 SLC15A2 Nonsynonymous SNV L319F 0.376 0.458 0.388 157 442 176 0.403 114 82 43 21 30 15.49 15236 chr15 55632859 55632859 G T rs678892 PIGB Nonsynonymous SNV W299L 0.334 0.341 0.388 130 392 131 0.333 114 69 25 26 22 15.92 15237 chr13 33703470 33703470 C T rs149018354 STARD13 Synonymous SNV A440A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.733 15238 chr13 25267017 25267017 A C rs56291145 ATP12A Nonsynonymous SNV N460H 0.048 0.047 0.085 13 56 18 0.033 25 0 0 1 0 10.18 15239 chr3 121646641 121646641 A G rs1143670 SLC15A2 Synonymous SNV A356A 0.377 0.458 0.398 157 443 176 0.403 117 82 43 21 30 9.566 15240 chr15 55653031 55653031 A G rs501231 CCPG1 Synonymous SNV L314L 0.503 0.529 0.507 198 591 203 0.508 149 144 49 39 55 11.68 15241 chr13 52667228 52667228 G A rs55715265 NEK5 Synonymous SNV Y390Y 0.055 0.063 0.065 26 65 24 0.067 19 1 0 1 1 0.035 15242 chr13 33704064 33704064 C T rs148927890 STARD13 Synonymous SNV K242K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.05 15243 chr15 55722872 55722872 G C rs77641439 DNAAF4 Nonsynonymous SNV S420C 0.102 0.128 0.105 43 120 49 0.11 31 8 0 1 2 Benign 24.8 15244 chr3 121647286 121647286 C T rs1143671 SLC15A2 Nonsynonymous SNV P378S 0.36 0.443 0.398 152 423 170 0.39 117 82 43 21 30 13.26 15245 chr13 103343308 103343308 T C rs16960383 METTL21C Nonsynonymous SNV N46S 0.053 0.049 0.037 19 62 19 0.049 11 1 0 0 0 0.001 15246 chr15 56122741 56122741 A C rs17238461 NEDD4 Synonymous SNV T1204T 0.17 0.159 0.15 62 200 61 0.159 44 19 7 6 4 2.427 15247 chr3 98110008 98110008 A G rs991897182 OR5K3 Nonsynonymous SNV T167A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 10.33 15248 chr3 121648168 121648168 G A rs1143672 SLC15A2 Nonsynonymous SNV R478K 0.377 0.458 0.398 157 443 176 0.403 117 82 43 21 30 0.469 15249 chr13 52718050 52718050 - T rs3837575 NEK3 0.664 0.607 0.463 243 779 233 0.623 136 292 78 53 78 15250 chr15 56152729 56152729 T C rs2303579 NEDD4 Nonsynonymous SNV N626S 0.748 0.771 0.793 300 878 296 0.769 233 332 119 94 119 0.001 15251 chr13 52952575 52952575 G A rs9536042 THSD1 Synonymous SNV A457A 0.067 0.089 0.058 22 79 34 0.056 17 3 1 1 0 0.241 15252 chr13 36744910 36744910 C T rs2296968 CCDC169-SOHLH2, SOHLH2 Nonsynonymous SNV A339T 0.194 0.195 0.139 76 228 75 0.195 41 21 9 4 6 0.417 15253 chr3 121712051 121712051 A C rs2877561 ILDR1 Synonymous SNV L426L 0.675 0.727 0.714 265 792 279 0.679 210 267 101 73 92 Benign 0.002 15254 chr13 52952680 52952680 G A rs9536043 THSD1 Synonymous SNV R422R 0.067 0.089 0.058 23 79 34 0.059 17 3 1 1 0 0.103 15255 chr15 56152872 56152872 C T rs2303580 NEDD4 Nonsynonymous SNV R607Q 0.748 0.771 0.793 300 878 296 0.769 233 332 119 94 119 23 15256 chr3 98250986 98250986 C T rs2230344 GPR15 Nonsynonymous SNV P37S 0.236 0.211 0.241 65 277 81 0.167 71 35 6 9 8 11.45 15257 chr13 52971718 52971718 G C rs9536062 THSD1 Nonsynonymous SNV R224G 0.067 0.089 0.058 23 79 34 0.059 17 3 1 1 0 13.34 15258 chr3 121825197 121825197 G A rs2681417 CD86 Nonsynonymous SNV V73I 0.917 0.927 0.929 348 1076 356 0.892 273 491 165 127 156 1.54 15259 chr15 56207983 56207983 C T rs7174459 NEDD4 Synonymous SNV S349S 0.33 0.281 0.269 117 387 108 0.3 79 62 15 12 23 9.992 15260 chr13 52971893 52971893 G A rs3803264 THSD1 Synonymous SNV I165I 0.738 0.708 0.697 278 866 272 0.713 205 327 93 71 99 3.446 15261 chr15 56208933 56208933 T C rs1912403 NEDD4 Nonsynonymous SNV M33V 0.082 0.049 0.071 23 96 19 0.059 21 4 0 0 1 12.25 15262 chr3 122003045 122003045 G C rs2036400 CASR Synonymous SNV P748P 1 1 0.997 387 1174 384 0.992 293 587 192 146 192 Benign 3.276 15263 chr13 53035665 53035665 T A rs35975899 CKAP2 Nonsynonymous SNV M236K 0.06 0.089 0.051 23 70 34 0.059 15 3 1 1 0 0.003 15264 chr15 56386577 56386577 T G rs7170589 RFX7 Nonsynonymous SNV N1020H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.35 15265 chr3 122003832 122003832 G C rs1801726 CASR Nonsynonymous SNV E1011Q 0.968 0.958 0.952 375 1136 368 0.962 280 549 176 134 180 Benign 0.109 15266 chr3 99536937 99536937 C T rs1718240 HP09053 0.375 0.388 0.429 166 440 149 0.426 126 75 22 30 41 9.71 15267 chr13 113733009 113733009 C T rs35155188 MCF2L Synonymous SNV R550R 0.098 0.094 0.119 47 115 36 0.121 35 5 1 1 4 12.09 15268 chr15 56387931 56387931 C T rs11071247 RFX7 Synonymous SNV Q568Q 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 9.479 15269 chr3 122056432 122056432 C T rs17589 CSTA Synonymous SNV Y35Y 0.568 0.557 0.609 226 667 214 0.579 179 190 66 58 65 2.54 15270 chr15 56923714 56923714 G A rs8043381 ZNF280D Synonymous SNV D961D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.013 15271 chr3 122126197 122126197 G A rs771323822 FAM162A Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 15272 chr13 24823928 24823928 T C rs80073311 SPATA13 Nonsynonymous SNV V31A 0.016 0.018 0.027 8 19 7 0.021 8 0 0 0 0 26.4 15273 chr13 46142500 46142500 A G rs989341657 ERICH6B Synonymous SNV I379I 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 0.171 15274 chr3 122133830 122133830 T G rs3749213 WDR5B Synonymous SNV I182I 0.265 0.253 0.235 119 311 97 0.305 69 38 11 9 18 7.036 15275 chr15 57210297 57210297 G A rs3803455 LOC145783 0 0 0.398 0 0 0 0 117 0 0 35 0 6.098 15276 chr13 53282749 53282749 G A rs61959654 CNMD Synonymous SNV G237G 0.06 0.089 0.051 23 70 34 0.059 15 3 1 1 0 9.207 15277 chr15 57210562 57210562 C A rs213150 LOC145783 0 0 0.935 0 0 0 0 275 0 0 133 0 9.845 15278 chr3 122186188 122186188 C T rs4678193 KPNA1 Nonsynonymous SNV S73N 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 16.45 15279 chr15 57210627 57210627 G C rs2165461 LOC145783 0 0 0.395 0 0 0 0 116 0 0 36 0 5.709 15280 chr13 53608632 53608632 C T rs2298231 OLFM4 Synonymous SNV S118S 0.551 0.503 0.558 182 647 193 0.467 164 174 46 54 46 12.31 15281 chr15 57731335 57731335 A C rs1280395 CGNL1 Nonsynonymous SNV T380P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.136 15282 chr13 46629944 46629944 A G rs1926447 CPB2 Nonsynonymous SNV I310T 0.595 0.625 0.605 266 699 240 0.682 178 195 80 52 93 0.002 15283 chr3 100354524 100354524 A G rs1144122 ADGRG7 Nonsynonymous SNV K151E 0.329 0.352 0.371 125 386 135 0.321 109 64 20 21 19 0.002 15284 chr13 46641466 46641466 A G rs9316179 CPB2 Synonymous SNV D226D 0.28 0.307 0.33 137 329 118 0.351 97 43 19 21 26 7.766 15285 chr13 38357384 38357384 G A rs12875527 TRPC4 Synonymous SNV L29L 0.106 0.107 0.088 44 125 41 0.113 26 0 3 1 2 10.69 15286 chr3 122259606 122259606 T C rs9851180 PARP9 Nonsynonymous SNV Y528C 0.599 0.599 0.517 252 703 230 0.646 152 215 67 38 78 0.004 15287 chr15 57731728 57731728 A G rs1280396 CGNL1 Nonsynonymous SNV T511A 0.832 0.849 0.878 316 977 326 0.81 258 408 140 114 126 0.011 15288 chr13 67800419 67800419 C G rs41283952 PCDH9 Synonymous SNV V718V 0.032 0.016 0.014 5 37 6 0.013 4 2 0 0 0 7.297 15289 chr13 67800935 67800935 G A rs9571740 PCDH9 Synonymous SNV D546D 0.521 0.531 0.524 200 612 204 0.513 154 160 50 34 57 0.026 15290 chr3 122274757 122274757 G C rs73192127 PARP9 Synonymous SNV V122V 0.266 0.26 0.241 121 312 100 0.31 71 39 11 10 18 11.37 15291 chr13 46648094 46648094 C T rs3742264 CPB2 Nonsynonymous SNV A169T 0.279 0.307 0.333 137 328 118 0.351 98 43 19 21 26 13.1 15292 chr13 67801532 67801532 A G rs45527937 PCDH9 Synonymous SNV N347N 0.026 0.013 0.01 5 30 5 0.013 3 2 0 0 0 0.003 15293 chr15 57745903 57745903 C A rs34169027 CGNL1 Synonymous SNV R693R 0.019 0.021 0.01 6 22 8 0.015 3 0 0 0 0 21.3 15294 chr3 122288210 122288210 G A rs2332285 DTX3L Nonsynonymous SNV R425K 0.583 0.594 0.5 248 684 228 0.636 147 204 64 34 75 6.62 15295 chr13 67802339 67802339 A T rs8000556 PCDH9 Synonymous SNV V78V 0.846 0.826 0.813 316 993 317 0.81 239 422 130 97 130 0.003 15296 chr15 57918090 57918090 A G rs2958059 GCOM1, MYZAP 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.37 15297 chr15 57967219 57967219 T C rs1991252 GCOM1, MYZAP Synonymous SNV T391T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.001 15298 chr13 114060210 114060210 C T rs149751766 LOC101928841 Synonymous SNV A765A 0.012 0.023 0 11 14 9 0.028 0 0 0 0 0 1.23 15299 chr13 70681873 70681873 A G rs3751428 ATXN8OS 0.307 0.354 0.296 127 360 136 0.326 87 66 37 13 24 5.875 15300 chr3 122290579 122290579 C T rs2036342 DTX3L Synonymous SNV A736A 0.329 0.375 0.415 111 386 144 0.285 122 71 27 29 9 10.78 15301 chr13 103388370 103388370 C T rs9518825 CCDC168 Nonsynonymous SNV G4893S 0.129 0.115 0.122 48 151 44 0.123 36 10 2 2 2 21.2 15302 chr3 100532510 100532510 T A rs73135513 ABI3BP Nonsynonymous SNV Q986L 0.17 0.18 0.167 58 200 69 0.149 49 13 3 5 2 14.25 15303 chr15 58000981 58000981 C T rs1062707 GCOM1, POLR2M Synonymous SNV A61A 0.783 0.813 0.724 305 919 312 0.782 213 365 125 82 119 10.27 15304 chr13 46705068 46705068 C A rs11558762 LCP1 Synonymous SNV P544P 0.143 0.148 0.139 65 168 57 0.167 41 10 4 3 8 12.32 15305 chr15 58256127 58256127 C T rs4646626 ALDH1A2 Nonsynonymous SNV V252I 0.513 0.51 0.439 195 602 196 0.5 129 140 49 26 47 22.1 15306 chr3 122296647 122296647 G A rs7632426 PARP15 Nonsynonymous SNV A45T 0.126 0.117 0.109 41 148 45 0.105 32 7 4 2 1 4.194 15307 chr3 100548484 100548484 T C rs36077176 ABI3BP Nonsynonymous SNV H714R 0.181 0.193 0.156 60 212 74 0.154 46 14 4 5 2 1.005 15308 chr15 58357854 58357854 C T rs34645259 LOC283665 0.044 0.039 0.024 17 52 15 0.044 7 3 0 1 0 20.2 15309 chr3 122418750 122418750 G A rs11719086 PARP14 Nonsynonymous SNV R450K 0.233 0.229 0.276 78 274 88 0.2 81 35 13 10 7 0.001 15310 chr15 58471368 58471368 C T rs2249783 AQP9 Synonymous SNV I114I 0.922 0.924 0.952 364 1083 355 0.933 280 500 163 133 170 11.24 15311 chr3 100560860 100560860 G A rs73135597 ABI3BP Nonsynonymous SNV P519S 0.118 0.146 0.129 39 138 56 0.1 38 8 3 2 4 5.633 15312 chr15 58476281 58476281 A G rs1867380 AQP9 Nonsynonymous SNV T214A 0.924 0.924 0.952 364 1085 355 0.933 280 502 163 133 170 0.001 15313 chr3 122437321 122437321 T C rs7645033 PARP14 Synonymous SNV Y1441Y 0.907 0.901 0.854 345 1065 346 0.885 251 484 156 106 153 0.002 15314 chr13 39343822 39343822 C T rs9603422 FREM2 Nonsynonymous SNV R1840W 0.136 0.161 0.126 59 160 62 0.151 37 13 2 4 4 Benign 24.1 15315 chr13 47127813 47127813 C T rs45540131 LRCH1 Synonymous SNV H94H 0.09 0.081 0.068 37 106 31 0.095 20 9 3 1 2 18.12 15316 chr15 58833993 58833993 G A rs6078 LIPC Nonsynonymous SNV V95M 0.02 0.021 0.024 8 23 8 0.021 7 0 0 0 0 Benign 0.001 15317 chr3 122474121 122474121 G C rs61756481 HSPBAP1 Nonsynonymous SNV L243V 0.093 0.099 0.078 30 109 38 0.077 23 5 3 1 0 25.3 15318 chr13 75876389 75876389 G A rs2297208 TBC1D4 Synonymous SNV L904L 0.521 0.56 0.51 197 612 215 0.505 150 168 65 37 44 Likely benign 12.48 15319 chr15 58834741 58834741 G T rs690 LIPC Synonymous SNV V155V 0.647 0.63 0.565 242 760 242 0.621 166 252 75 47 75 Benign 0.67 15320 chr3 122630346 122630346 T C rs2303983 SEMA5B Nonsynonymous SNV D934G 0.833 0.846 0.745 336 978 325 0.862 219 414 139 89 144 1.885 15321 chr3 101177848 101177848 T G rs6809436 SENP7 Nonsynonymous SNV K46Q 0.122 0.122 0.102 45 143 47 0.115 30 10 5 1 2 9.193 15322 chr15 58837957 58837957 A G rs6082 LIPC Synonymous SNV G197G 0.043 0.047 0.061 9 51 18 0.023 18 0 0 1 0 Benign 0.35 15323 chr13 47266769 47266769 C T rs139197416 LRCH1 Synonymous SNV P371P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.05 15324 chr15 58838010 58838010 A G rs6083 LIPC Nonsynonymous SNV N215S 0.282 0.297 0.337 116 331 114 0.297 99 44 19 21 18 Benign 1.054 15325 chr3 122631896 122631896 A T rs2276782 SEMA5B Nonsynonymous SNV V782D 0.827 0.849 0.772 335 971 326 0.859 227 408 139 91 143 16.08 15326 chr13 28239940 28239940 G C rs11029 POLR1D Synonymous SNV A45A 0.319 0.276 0.286 114 374 106 0.292 84 67 16 17 15 6.632 15327 chr3 101284039 101284039 G A rs373862967 TRMT10C Synonymous SNV T138T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.423 15328 chr13 47466622 47466622 G A rs6305 HTR2A Synonymous SNV D88D 0.043 0.016 0.044 12 50 6 0.031 13 0 0 0 1 6.628 15329 chr13 39454843 39454843 G A rs41306662 FREM2 Synonymous SNV G3143G 0.03 0.034 0.024 18 35 13 0.046 7 0 0 0 0 Benign 3.617 15330 chr13 76055602 76055602 G A rs77685055 TBC1D4 Nonsynonymous SNV A101V 0.066 0.049 0.102 26 78 19 0.067 30 2 2 1 0 Likely benign 9.437 15331 chr15 58838038 58838038 C G rs6084 LIPC Synonymous SNV T224T 0.617 0.589 0.548 234 724 226 0.6 161 222 70 47 70 Benign 11.96 15332 chr3 122642590 122642590 G A rs2276778 SEMA5B Synonymous SNV I324I 0.592 0.617 0.592 250 695 237 0.641 174 209 74 53 79 8.852 15333 chr15 58853079 58853079 C A rs3829462 LIPC Nonsynonymous SNV F356L 0.997 0.992 0.973 386 1171 381 0.99 286 584 189 140 191 Benign 22.8 15334 chr13 49794650 49794650 C A rs9568169 MLNR Synonymous SNV T59T 0.284 0.313 0.299 112 334 120 0.287 88 50 21 14 17 21.7 15335 chr13 26349076 26349076 C T rs116883114 ATP8A2 Synonymous SNV N846N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.41 15336 chr3 122646734 122646734 C T rs2276775 SEMA5B Synonymous SNV T193T 0.156 0.151 0.119 64 183 58 0.164 35 15 4 1 6 8.795 15337 chr13 76055820 76055820 G C rs7327548 TBC1D4 Synonymous SNV P28P 0.447 0.404 0.378 164 525 155 0.421 111 112 35 24 38 Likely benign 5.681 15338 chr15 58853109 58853109 A G rs3829461 LIPC Synonymous SNV T366T 0.997 0.992 0.98 386 1171 381 0.99 288 584 189 141 191 Benign 0.013 15339 chr3 102157365 102157365 A T rs6784362 ZPLD1 Nonsynonymous SNV I28F 0.143 0.141 0.16 62 168 54 0.159 47 13 5 5 4 15.7 15340 chr3 122646828 122646828 A G rs2276774 SEMA5B Nonsynonymous SNV I162T 0.21 0.206 0.17 84 247 79 0.215 50 25 10 2 13 11.24 15341 chr15 58983318 58983318 G C rs7179724 HSP90AB4P 0 0 0.129 0 0 0 0 38 0 0 2 0 4.424 15342 chr15 58983425 58983425 G C rs7161889 HSP90AB4P 0 0 0.293 0 0 0 0 86 0 0 15 0 0.629 15343 chr13 49039397 49039397 T C RB1 Synonymous SNV S794S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.407 15344 chr3 102157417 102157417 A G rs6784389 ZPLD1 Nonsynonymous SNV N45S 0.144 0.141 0.16 62 169 54 0.159 47 13 5 5 4 9.361 15345 chr3 122680141 122680141 A G rs13094003 SEMA5B Synonymous SNV G44G 0.193 0.19 0.184 72 227 73 0.185 54 25 7 2 8 1.3 15346 chr15 58983588 58983588 T A rs7163162 HSP90AB4P 0 0 0.293 0 0 0 0 86 0 0 15 0 9.355 15347 chr15 58985164 58985164 T G rs4774310 HSP90AB4P 0 0 0.211 0 0 0 0 62 0 0 6 0 5.406 15348 chr3 122694930 122694930 C T rs9968193 SEMA5B Nonsynonymous SNV R14K 0.07 0.068 0.075 19 82 26 0.049 22 3 1 2 0 9.199 15349 chr15 59347929 59347929 C A rs1446239 RNF111 Synonymous SNV S352S 0.365 0.352 0.367 131 429 135 0.336 108 69 20 18 18 15.52 15350 chr3 102181131 102181131 A G rs12054046 ZPLD1 Nonsynonymous SNV T213A 0.143 0.141 0.156 62 168 54 0.159 46 13 5 5 4 15.45 15351 chr15 59368167 59368167 G A rs7178935 RNF111 Synonymous SNV V567V 0.327 0.318 0.323 119 384 122 0.305 95 53 19 13 13 10.86 15352 chr15 59510189 59510189 G A rs2230155 MYO1E Synonymous SNV S336S 0.323 0.367 0.279 138 379 141 0.354 82 52 27 9 20 14.44 15353 chr13 28578282 28578282 C A FLT3 Synonymous SNV S963S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.55 15354 chr3 122864436 122864436 G A rs8739 PDIA5 Synonymous SNV A326A 0.585 0.557 0.558 215 687 214 0.551 164 198 64 48 57 10.57 15355 chr15 59784493 59784493 C T rs4296198 FAM81A Synonymous SNV A106A 0.79 0.771 0.759 295 928 296 0.756 223 371 117 87 109 18.09 15356 chr3 105266274 105266274 T C rs16851279 ALCAM Synonymous SNV S427S 0.113 0.091 0.126 43 133 35 0.11 37 6 0 2 0 6.541 15357 chr15 60789798 60789798 G T rs11071539 RORA Synonymous SNV T421T 0.998 1 0.997 386 1172 384 0.99 293 585 192 146 191 1.2 15358 chr3 122880191 122880191 T C rs8935 PDIA5 Synonymous SNV C456C 0.32 0.38 0.371 126 376 146 0.323 109 65 30 22 14 3.133 15359 chr13 76427347 76427347 C A rs7988661 LMO7 Nonsynonymous SNV P1168Q 0.07 0.06 0.102 35 82 23 0.09 30 0 1 4 0 25.9 15360 chr15 62259637 62259637 C T rs3784634 VPS13C Nonsynonymous SNV R931K 0.506 0.576 0.667 218 594 221 0.559 196 234 87 70 89 7.541 15361 chr3 123167249 123167249 G A rs4678027 ADCY5 Synonymous SNV G48G 0.997 1 0.697 389 1170 384 0.997 205 585 192 102 194 0.8 15362 chr13 76427403 76427403 G A rs71434812 LMO7 Nonsynonymous SNV V1187M 0.069 0.057 0.099 34 81 22 0.087 29 0 1 4 0 9.492 15363 chr3 123411589 123411589 G A rs40305 MYLK Synonymous SNV T1010T 0.749 0.734 0.724 304 879 282 0.779 213 329 103 78 121 Benign 12.6 15364 chr15 62456358 62456358 A C rs8040712 C2CD4B Nonsynonymous SNV F276V 0.842 0.81 0.823 331 989 311 0.849 242 419 129 103 140 7.72 15365 chr3 123451773 123451773 G C rs9833275 MYLK Nonsynonymous SNV L320V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 23 15366 chr15 62456945 62456945 G A rs8025811 C2CD4B Nonsynonymous SNV P80L 0.172 0.146 0.068 69 202 56 0.177 20 18 4 2 10 34 15367 chr13 76427410 76427410 C G rs7988841 LMO7 Nonsynonymous SNV P1189R 0.069 0.057 0.102 34 81 22 0.087 30 0 1 4 0 20.7 15368 chr3 123452838 123452838 G A rs4678047 MYLK Synonymous SNV T159T 0.657 0.664 0.633 269 771 255 0.69 186 257 81 56 93 Benign 2.489 15369 chr15 62535030 62535030 G A rs1996469 GOLGA2P11 0 0 0.408 0 0 0 0 120 0 0 27 0 2.505 15370 chr15 62535864 62535864 T C rs11635709 GOLGA2P11 0 0 0.265 0 0 0 0 78 0 0 9 0 0.897 15371 chr3 123457893 123457893 G A rs9840993 MYLK Nonsynonymous SNV P147S 0.988 0.99 0.976 389 1160 380 0.997 287 573 188 140 194 Benign 8.43 15372 chr15 62538522 62538522 - GA rs3055695 GOLGA2P11 0 0 0.663 0 0 0 0 195 0 0 71 0 15373 chr15 62936830 62936830 C T rs11852582 MGC15885 0 0 0.735 0 0 0 0 216 0 0 96 0 3.996 15374 chr13 77566320 77566320 C G rs138037471 CLN5 Synonymous SNV A29A 0.046 0.034 0.065 18 54 13 0.046 19 2 1 1 0 Benign/Likely benign 10.74 15375 chr15 63009804 63009804 C T rs1320191 TLN2 Synonymous SNV A931A 0.882 0.872 0.867 342 1035 335 0.877 255 456 146 110 149 12.77 15376 chr13 77751892 77751892 C T rs4885445 MYCBP2 Synonymous SNV L1777L 0.761 0.745 0.728 296 893 286 0.759 214 339 107 79 115 12.25 15377 chr15 63047778 63047778 C T rs8033767 TLN2 Synonymous SNV C1508C 0.716 0.703 0.711 269 840 270 0.69 209 300 94 76 94 12.84 15378 chr3 123634046 123634046 G A rs2700373 CCDC14 Synonymous SNV S614S 0.744 0.776 0.796 283 873 298 0.726 234 326 123 89 103 4.141 15379 chr3 108081247 108081247 G A rs16854512 HHLA2 Synonymous SNV A354A 0.301 0.234 0.241 124 353 90 0.318 71 61 13 7 17 7.651 15380 chr15 63340292 63340292 C T rs4075584 TPM1-AS 0 0 0.432 0 0 0 0 127 0 0 57 0 Benign 7.156 15381 chr3 123665902 123665902 T G rs17310144 CCDC14 Nonsynonymous SNV T165P 0.527 0.576 0.565 201 619 221 0.515 166 160 66 42 48 4.5 15382 chr15 63340647 63340647 A G rs4374117 TPM1-AS 0.094 0.089 0.874 30 110 34 0.077 257 55 17 128 15 11.65 15383 chr13 78178451 78178451 C T rs6563011 SCEL-AS1 0.863 0.854 0.932 355 1013 328 0.91 274 472 150 132 168 5.787 15384 chr13 52520507 52520507 C T rs1801246 ATP7B Synonymous SNV T784T 0.044 0.052 0.088 35 52 20 0.09 26 4 1 1 2 Benign 17.58 15385 chr15 63351840 63351840 C A rs1071646 TPM1 Synonymous SNV A115A 0.608 0.589 0.599 223 714 226 0.572 176 215 64 57 64 Benign 18.94 15386 chr13 78178550 78178550 G A rs2274016 SCEL Nonsynonymous SNV R366K 0.051 0.049 0.065 28 60 19 0.072 19 0 1 3 1 24 15387 chr3 123988039 123988039 T C rs2272486 KALRN Synonymous SNV H300H 0.63 0.617 0.605 236 740 237 0.605 178 239 72 50 72 0.075 15388 chr15 63414083 63414083 A C rs34317102 LACTB Nonsynonymous SNV M5L 0.635 0.643 0.694 241 745 247 0.618 204 240 84 76 79 1.31 15389 chr3 108189627 108189627 C T rs4299484 MYH15 Nonsynonymous SNV R454Q 0.251 0.253 0.262 110 295 97 0.282 77 32 18 16 16 31 15390 chr13 29600222 29600222 A G MTUS2 Nonsynonymous SNV N463D 0.012 0.003 0 0 14 1 0 0 0 0 0 0 0.664 15391 chr3 124044949 124044949 C T rs2289778 KALRN Synonymous SNV F403F 0.869 0.857 0.871 340 1020 329 0.872 256 444 142 112 147 17.06 15392 chr15 63433766 63433766 G A rs2729835 LACTB Nonsynonymous SNV R469K 0.589 0.591 0.656 221 691 227 0.567 193 196 70 64 65 5.056 15393 chr3 108373022 108373022 G A rs2969901 DZIP3 Synonymous SNV L688L 0.364 0.346 0.364 145 427 133 0.372 107 70 26 23 30 10.39 15394 chr3 124351316 124351316 G A rs1708303 KALRN Synonymous SNV V45V 0.631 0.609 0.554 250 741 234 0.641 163 236 73 40 80 9.239 15395 chr13 78475313 78475313 T C rs5351 EDNRB Synonymous SNV L277L 0.565 0.549 0.568 242 663 211 0.621 167 191 56 51 74 Benign 10.89 15396 chr15 63922752 63922752 T A rs10851731 HERC1 Synonymous SNV I4293I 0.884 0.893 0.881 348 1038 343 0.892 259 457 153 115 156 10.77 15397 chr3 124351424 124351424 T C rs1660038 KALRN Synonymous SNV L81L 0.631 0.609 0.554 250 741 234 0.641 163 236 73 40 80 4.261 15398 chr15 63932513 63932513 G C rs2228517 HERC1 Synonymous SNV L3913L 0.527 0.563 0.517 206 619 216 0.528 152 169 59 39 51 7.302 15399 chr3 108475974 108475974 G A rs11708527 RETNLB Nonsynonymous SNV P20L 0.308 0.268 0.32 104 362 103 0.267 94 54 17 12 16 18.19 15400 chr15 63937209 63937209 C G rs2229749 HERC1 Nonsynonymous SNV E3722D 0.883 0.893 0.878 348 1037 343 0.892 258 456 153 114 156 9.079 15401 chr3 124379817 124379817 T C rs333289 KALRN Synonymous SNV I358I 0.62 0.594 0.565 250 728 228 0.641 166 225 67 45 78 2.428 15402 chr13 52709938 52709938 A C rs2296351 NEK3 Synonymous SNV P395P 0.399 0.326 0.364 144 468 125 0.369 107 106 21 17 27 0.003 15403 chr13 80095030 80095030 C T rs11549502 NDFIP2 Nonsynonymous SNV A136V 0.158 0.151 0.201 46 186 58 0.118 59 11 3 8 2 11.33 15404 chr3 108475993 108475993 - GGGGATTA rs368497660 RETNLB Stop gain L14* 0.172 0.19 0.177 90 202 73 0.231 52 17 11 8 11 15405 chr15 63954029 63954029 C T rs2228511 HERC1 Synonymous SNV P3031P 0.884 0.891 0.881 349 1038 342 0.895 259 457 153 115 157 14.42 15406 chr3 124627024 124627024 T G rs1127233 MUC13 Nonsynonymous SNV R502S 0.225 0.247 0.252 102 264 95 0.262 74 36 10 5 10 0.077 15407 chr15 63966572 63966572 C T rs145406028 HERC1 Synonymous SNV L2605L 0.024 0.021 0.01 10 28 8 0.026 3 0 0 0 0 8.705 15408 chr15 63970456 63970456 T C rs2228510 HERC1 Nonsynonymous SNV I2220V 0.536 0.568 0.524 214 629 218 0.549 154 176 61 41 57 11.09 15409 chr3 124646705 124646705 - AAG rs10630030 MUC13 P61_F62insS 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 15410 chr13 95264604 95264604 C T rs9524559 GPR180 Synonymous SNV A155A 0.374 0.344 0.391 144 439 132 0.369 115 79 23 25 25 19.25 15411 chr3 108639384 108639384 T C rs6804162 GUCA1C Nonsynonymous SNV M85V 0.284 0.299 0.276 125 333 115 0.321 81 42 22 20 19 4.913 15412 chr13 43462607 43462607 G A rs11557739 EPSTI1 Nonsynonymous SNV P338S 0.052 0.065 0.065 23 61 25 0.059 19 2 1 1 1 5.131 15413 chr13 23913549 23913549 T C rs147099630 SACS Nonsynonymous SNV N1342S 0.007 0.01 0.014 16 8 4 0.041 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 15414 chr3 124692689 124692689 C T rs2270778 HEG1 Synonymous SNV P1294P 0.632 0.628 0.588 260 742 241 0.667 173 229 73 53 83 16.15 15415 chr15 63982745 63982745 C A rs34484871 HERC1 Nonsynonymous SNV A1978S 0.014 0.013 0.014 8 16 5 0.021 4 0 1 0 0 22 15416 chr13 52660467 52660467 T C NEK5 Synonymous SNV Q475Q 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 0.598 15417 chr3 124728626 124728626 A G rs6438869 HEG1 Nonsynonymous SNV M1039T 0.664 0.708 0.667 254 779 272 0.651 196 260 97 60 83 0.001 15418 chr13 95364046 95364046 C G rs1060474 SOX21 Synonymous SNV L86L 0.441 0.474 0.432 171 518 182 0.438 127 122 41 29 34 12.5 15419 chr15 63988357 63988357 C G rs2255243 HERC1 Nonsynonymous SNV G1696A 0.884 0.891 0.881 350 1038 342 0.897 259 457 153 115 158 5.619 15420 chr3 124731485 124731485 C G rs10804567 HEG1 Nonsynonymous SNV V980L 0.575 0.544 0.643 203 675 209 0.521 189 189 61 62 54 0.002 15421 chr13 111109367 111109367 G C rs373030497 COL4A2-AS2 Nonsynonymous SNV I235M 0.017 0.003 0 11 20 1 0.028 0 8 0 0 3 1.209 15422 chr15 64021476 64021476 T G rs61740450 HERC1 Nonsynonymous SNV K1038T 0.032 0.049 0.034 14 37 19 0.036 10 0 0 0 0 15.63 15423 chr13 52971517 52971517 C T rs41292808 THSD1 Nonsynonymous SNV E291K 0.028 0.031 0.024 17 33 12 0.044 7 2 0 0 1 6.353 15424 chr13 45150032 45150032 G A rs200325152 TSC22D1 Nonsynonymous SNV P60L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25 15425 chr3 124732618 124732618 A G rs6790837 HEG1 Nonsynonymous SNV F602S 0.518 0.505 0.585 180 608 194 0.462 172 155 51 52 45 8.864 15426 chr15 64025223 64025223 T C rs35978932 HERC1 Nonsynonymous SNV N923S 0.026 0.021 0.014 16 30 8 0.041 4 0 0 0 0 0.373 15427 chr13 95735520 95735520 C A rs11568694 ABCC4 Nonsynonymous SNV V807F 0.008 0.018 0.017 4 9 7 0.01 5 0 0 0 0 20.4 15428 chr13 45150237 45150237 A G TSC22D1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.473 15429 chr15 64067037 64067037 T C rs2228515 HERC1 Synonymous SNV R262R 0.026 0.021 0.014 16 31 8 0.041 4 0 0 0 0 0.19 15430 chr3 124738107 124738107 C T rs59232004 HEG1 Synonymous SNV S529S 0.533 0.523 0.585 184 626 201 0.472 172 161 53 52 45 13.09 15431 chr15 64214954 64214954 G C rs920762 DAPK2 Nonsynonymous SNV L483V 0.464 0.453 0.446 211 545 174 0.541 131 126 41 33 53 6.86 15432 chr13 95858912 95858912 C T rs11568703 ABCC4 Synonymous SNV V270V 0.012 0.003 0.003 3 14 1 0.008 1 0 0 0 0 7.043 15433 chr3 124739892 124739892 G A rs6438874 HEG1 Synonymous SNV A332A 0.534 0.523 0.585 184 627 201 0.472 172 162 53 52 45 4.889 15434 chr15 64214993 64214993 G C rs920761 DAPK2 Nonsynonymous SNV L470V 0.153 0.148 0.109 82 180 57 0.21 32 10 6 2 10 4.589 15435 chr13 96239805 96239805 G A rs11070136 DZIP1 Nonsynonymous SNV P717S 0.307 0.315 0.272 137 361 121 0.351 80 56 18 17 17 7.914 15436 chr15 64215375 64215375 G C rs4776669 DAPK2 Synonymous SNV V342V 0.977 0.977 0.966 378 1147 375 0.969 284 561 183 137 183 3.304 15437 chr3 124746049 124746049 A G rs2981546 HEG1 Nonsynonymous SNV S305P 0.526 0.513 0.585 182 618 197 0.467 172 161 51 52 45 0.855 15438 chr13 53286950 53286950 C T rs7330220 CNMD Nonsynonymous SNV V175I 0.068 0.07 0.105 39 80 27 0.1 31 4 1 3 2 23.9 15439 chr15 64385851 64385851 T C rs332259 CIAO2A Synonymous SNV E39E 0.978 0.971 0.98 380 1148 373 0.974 288 561 183 141 186 7.458 15440 chr15 64418397 64418397 G A rs1130603 SNX1 Synonymous SNV P145P 0.71 0.701 0.697 279 833 269 0.715 205 298 92 71 99 6.605 15441 chr3 124746182 124746182 C A rs2333041 HEG1 Synonymous SNV P260P 0.535 0.523 0.585 184 628 201 0.472 172 163 53 52 45 13.85 15442 chr15 64710827 64710827 T C rs4776494 TRIP4 Synonymous SNV L190L 0.153 0.138 0.146 50 180 53 0.128 43 13 1 2 3 0.913 15443 chr3 111672825 111672825 C T rs3749298 PHLDB2 Nonsynonymous SNV P898S 0.072 0.06 0.051 35 85 23 0.09 15 4 0 0 1 24.7 15444 chr3 124746347 124746347 T C rs4404487 HEG1 Synonymous SNV S205S 0.582 0.555 0.646 205 683 213 0.526 190 190 62 62 53 0.578 15445 chr15 64737225 64737225 G A rs7167612 TRIP4 Synonymous SNV E302E 0.922 0.911 0.901 351 1083 350 0.9 265 505 161 126 159 10.03 15446 chr13 97639414 97639414 C T rs9284174 OXGR1 Synonymous SNV L200L 0.537 0.56 0.582 199 630 215 0.51 171 169 59 54 47 0.197 15447 chr15 64915106 64915106 C T rs525878 ZNF609 Synonymous SNV P276P 0.997 1 0.997 389 1170 384 0.997 293 583 192 146 194 13.19 15448 chr13 73369642 73369642 A G rs1372000 PIBF1 Nonsynonymous SNV I167V 0.277 0.255 0.337 112 325 98 0.287 99 48 19 15 15 0.002 15449 chr3 124748226 124748226 G A rs2860440 HEG1 Synonymous SNV G141G 0.532 0.513 0.585 183 624 197 0.469 172 162 51 52 44 9.257 15450 chr3 111688578 111688578 C T rs774854 PHLDB2 Synonymous SNV D1076D 0.14 0.161 0.129 50 164 62 0.128 38 15 7 3 3 12.51 15451 chr15 64962630 64962630 A C rs11633399 ZNF609 Synonymous SNV P353P 0.468 0.461 0.483 197 549 177 0.505 142 122 33 29 49 12.38 15452 chr3 124837684 124837684 T C rs621383 SLC12A8 Nonsynonymous SNV I281V 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.031 15453 chr15 65108504 65108504 A T rs17802279 PIF1 Nonsynonymous SNV I640N 0.426 0.44 0.429 166 500 169 0.426 126 107 37 26 36 12.17 15454 chr3 111719786 111719786 A T rs2292583 TAGLN3 Synonymous SNV L116L 0.064 0.089 0.065 30 75 34 0.077 19 1 1 1 2 0.394 15455 chr13 73539466 73539466 A G rs11544631 PIBF1 Nonsynonymous SNV I630V 0.081 0.068 0.058 49 95 26 0.126 17 5 2 1 5 21.8 15456 chr15 65116328 65116328 A G rs12899195 PIF1 Synonymous SNV F69F 0.993 0.974 0.782 381 1166 374 0.977 230 583 187 114 190 4.373 15457 chr3 124839470 124839470 G A rs863642 SLC12A8 Nonsynonymous SNV P266L 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 22.8 15458 chr13 72063188 72063188 A G rs199546133 DACH1 Nonsynonymous SNV S353P 0.004 0.01 0.014 0 5 4 0 4 0 0 0 0 23.2 15459 chr15 65209671 65209671 C T rs201773834 ANKDD1A Synonymous SNV D75D 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 16.62 15460 chr15 65235776 65235776 A G rs34988193 ANKDD1A Nonsynonymous SNV K355E 0.359 0.404 0.344 142 421 155 0.364 101 76 26 20 21 27.4 15461 chr13 72440659 72440664 GCCGCC - rs748058171 DACH1 G81Efs*65 0.309 0.333 0.238 119 363 128 0.305 70 177 61 34 56 15462 chr3 124896668 124896668 G A rs2993631 SLC12A8 Nonsynonymous SNV R181C 0.02 0.023 0.027 8 23 9 0.021 8 0 0 0 0 34 15463 chr13 46287373 46287373 C A rs80072371 CBY2 Stop gain C44X 0.044 0.044 0.044 25 52 17 0.064 13 1 0 0 1 25.3 15464 chr15 65236875 65236875 T C rs2414865 ANKDD1A Synonymous SNV A364A 0.491 0.536 0.503 185 576 206 0.474 148 141 55 36 38 9.833 15465 chr3 111887792 111887792 C A rs76007436 SLC9C1 Nonsynonymous SNV A1009S 0.094 0.096 0.088 36 110 37 0.092 26 4 1 1 1 12.03 15466 chr15 65347405 65347405 G A rs2232762 RASL12 Synonymous SNV T192T 0.416 0.393 0.435 164 488 151 0.421 128 102 35 30 32 12.64 15467 chr3 124906162 124906162 G A rs34985183 SLC12A8 Synonymous SNV S103S 0.01 0.013 0.01 4 12 5 0.01 3 0 0 0 0 12.34 15468 chr13 99449468 99449468 G A rs41279126 DOCK9 Synonymous SNV N1988N 0.043 0.042 0.061 19 51 16 0.049 18 3 0 1 0 7.796 15469 chr15 65369395 65369395 C T rs2919358 KBTBD13 Nonsynonymous SNV A81V 0.405 0.404 0.418 160 476 155 0.41 123 98 38 26 33 Benign 28.3 15470 chr3 124951821 124951821 C T rs1053738 ZNF148 Synonymous SNV P583P 0.806 0.799 0.799 322 946 307 0.826 235 382 122 100 135 9.72 15471 chr13 99457413 99457413 G A rs41279130 DOCK9 Synonymous SNV H1824H 0.043 0.042 0.061 19 50 16 0.049 18 3 0 1 0 11.19 15472 chr15 65369531 65369531 G T rs2946642 KBTBD13 Synonymous SNV A126A 0.404 0.401 0.418 159 474 154 0.408 123 97 38 26 33 Benign 0.342 15473 chr3 125266387 125266387 G A rs35535572 OSBPL11 Synonymous SNV P568P 0.084 0.086 0.105 29 99 33 0.074 31 8 2 2 2 10.18 15474 chr15 65369951 65369951 A G rs2919359 KBTBD13 Synonymous SNV E266E 0.866 0.872 0.895 344 1017 335 0.882 263 442 143 117 151 Benign 0.053 15475 chr13 99554621 99554621 G A rs62620184 DOCK9 Nonsynonymous SNV A435V 0.042 0.042 0.051 21 49 16 0.054 15 1 0 1 1 Benign 9.881 15476 chr13 75866284 75866284 G A rs9600455 TBC1D4 Nonsynonymous SNV T1084M 0.105 0.107 0.112 56 123 41 0.144 33 4 2 4 2 Likely benign 20.4 15477 chr13 76335109 76335109 A G rs17706535 LMO7 Synonymous SNV G42G 0.198 0.216 0.184 80 233 83 0.205 54 20 12 6 8 12.05 15478 chr3 125726048 125726048 G C rs2279819 SLC41A3 Synonymous SNV L389L 0.668 0.633 0.701 280 784 243 0.718 206 265 78 74 103 12.54 15479 chr15 65370353 65370353 T C rs2919360 KBTBD13 Synonymous SNV G400G 0.992 0.995 0.983 387 1165 382 0.992 289 578 190 142 192 Benign 0.221 15480 chr3 125775228 125775228 T C rs7613944 SLC41A3 Synonymous SNV T56T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.755 15481 chr15 65489128 65489128 C T rs938952 CILP Nonsynonymous SNV G1166S 0.808 0.815 0.823 319 949 313 0.818 242 385 122 100 132 0.985 15482 chr13 99554629 99554629 C T rs142267943 DOCK9 Synonymous SNV T432T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 16.72 15483 chr3 125786879 125786879 T C rs4234270 SLC41A3 Nonsynonymous SNV T62A 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.001 15484 chr13 112722436 112722441 TGGGCG - rs554658976 SOX1 V161_G162del 0.016 0.016 0.037 16 19 6 0.041 11 0 0 2 2 15485 chr13 36202269 36202269 A G rs11538677 NBEA Nonsynonymous SNV I294V 0.079 0.06 0.068 50 93 23 0.128 20 4 0 0 4 25.8 15486 chr15 65489688 65489688 T C rs2679117 CILP Nonsynonymous SNV Q979R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 15487 chr13 112723111 112723111 - GGGCGT rs137969745 SOX1 V382_N383insGV 0.036 0.018 0 21 42 7 0.054 0 1 0 0 1 15488 chr14 100111565 100111565 G A rs12893887 HHIPL1 Synonymous SNV G7G 0.083 0.109 0.017 41 97 42 0.105 5 10 7 1 2 13.54 15489 chr3 125872293 125872293 G A rs16837178 ALDH1L1 Synonymous SNV D183D 0.07 0.089 0.085 31 82 34 0.079 25 4 0 2 1 9.103 15490 chr13 76409436 76409436 A G rs2273997 LMO7 Synonymous SNV L771L 0.388 0.365 0.354 161 456 140 0.413 104 98 25 23 31 0.177 15491 chr15 65490901 65490901 T C rs2679118 CILP Nonsynonymous SNV K575E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 15492 chr3 126135332 126135332 G A rs142615985 CFAP100 Stop gain W133X 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 36 15493 chr13 113201878 113201878 G A rs41288618 TUBGCP3 Synonymous SNV R408R 0.026 0.029 0.044 14 30 11 0.036 13 0 0 0 1 8.06 15494 chr13 48986529 48986529 A G rs373090147 LPAR6 Nonsynonymous SNV Y11H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 15495 chr13 75936636 75936636 G A rs17254379 TBC1D4 Synonymous SNV F202F 0.144 0.169 0.099 62 169 65 0.159 29 13 6 1 6 Likely benign 14.96 15496 chr3 126137558 126137558 C T rs4679242 CFAP100 Synonymous SNV A197A 0.164 0.159 0.194 62 193 61 0.159 57 11 5 5 8 13.04 15497 chr15 65494212 65494212 A G rs2073711 CILP Nonsynonymous SNV I395T 0.629 0.581 0.609 236 739 223 0.605 179 240 63 55 77 risk factor 14.93 15498 chr13 49776080 49776080 A G rs9316430 FNDC3A Synonymous SNV K988K 0.044 0.034 0.037 11 52 13 0.028 11 1 0 0 0 8.411 15499 chr3 126180705 126180705 G A rs61736554 ZXDC Synonymous SNV D600D 0.043 0.052 0.037 15 50 20 0.038 11 2 0 1 2 6.273 15500 chr15 65621441 65621441 C A rs12907128 IGDCC3 Nonsynonymous SNV V751L 0.582 0.578 0.551 239 683 222 0.613 162 195 66 46 78 3.462 15501 chr3 126194076 126194076 T C rs812367 ZXDC Synonymous SNV P211P 0.657 0.68 0.646 286 771 261 0.733 190 263 88 62 104 5.635 15502 chr3 126194357 126194357 G C rs7624748 ZXDC Nonsynonymous SNV P118A 0.986 0.992 0.84 383 1158 381 0.982 247 579 190 123 191 0.001 15503 chr15 65621857 65621857 T C rs509652 IGDCC3 Synonymous SNV L692L 0.974 0.979 0.98 380 1143 376 0.974 288 558 184 141 185 8.495 15504 chr15 65667724 65667724 A G rs666623 IGDCC3 Synonymous SNV A40A 0.923 0.914 0.871 350 1084 351 0.897 256 504 161 114 156 0.081 15505 chr3 126194436 126194436 G A rs139188163 ZXDC Synonymous SNV A91A 0.043 0.055 0.031 15 50 21 0.038 9 2 1 1 2 12.87 15506 chr15 65916527 65916527 A T rs3743171 SLC24A1 Nonsynonymous SNV T37S 0.161 0.154 0.18 59 189 59 0.151 53 17 7 4 4 Benign 12.32 15507 chr13 77730235 77730235 T C rs1005933941 MYCBP2 Synonymous SNV T2291T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.601 15508 chr3 126202257 126202257 G A rs1687477 UROC1 Synonymous SNV A615A 0.506 0.516 0.52 222 594 198 0.569 153 157 42 40 61 Likely benign 3.453 15509 chr15 65994733 65994733 C T rs17810074 DENND4A Synonymous SNV V780V 0.329 0.357 0.303 122 386 137 0.313 89 61 23 15 15 11.83 15510 chr3 126260608 126260608 G T rs6766712 CHST13 Synonymous SNV R71R 0.181 0.161 0.167 64 213 62 0.164 49 19 8 6 5 3.219 15511 chr15 66257408 66257408 T C rs333550 MEGF11 Nonsynonymous SNV H317R 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 2.038 15512 chr13 51826044 51826044 G C rs17075482 FAM124A Nonsynonymous SNV D181H 0.086 0.109 0.092 36 101 42 0.092 27 10 2 3 1 15.8 15513 chr3 126261202 126261202 G A rs1056524 CHST13 Synonymous SNV T269T 0.232 0.195 0.204 84 272 75 0.215 60 24 12 8 7 2.876 15514 chr3 126261207 126261207 C T rs1056523 CHST13 Nonsynonymous SNV A271V 0.178 0.156 0.167 61 209 60 0.156 49 17 8 6 5 18.51 15515 chr15 66274690 66274690 T C rs551474 MEGF11 Synonymous SNV A177A 0.998 0.997 0.997 385 1172 383 0.987 293 585 191 146 191 0.366 15516 chr13 51929249 51929249 C T rs754889611 SERPINE3 Nonsynonymous SNV P324S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 15517 chr14 100808845 100808845 G A rs9453 WARS1 Synonymous SNV L294L 0.775 0.779 0.639 279 910 299 0.715 188 359 116 82 95 11.27 15518 chr15 66411441 66411441 C T rs16949528 MEGF11 Nonsynonymous SNV S95N 0.309 0.354 0.337 143 363 136 0.367 99 46 21 15 22 16.29 15519 chr13 78477665 78477665 G A rs5349 EDNRB Synonymous SNV I187I 0.013 0.01 0 8 15 4 0.021 0 0 0 0 0 Benign/Likely benign 14.36 15520 chr13 52301909 52301909 C G rs143029510 WDFY2 Nonsynonymous SNV T194R 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 27.2 15521 chr13 114083316 114083316 C T rs9635114 ADPRHL1 Synonymous SNV A199A 0.004 0.01 0.01 0 5 4 0 3 0 0 0 0 10.81 15522 chr3 126261345 126261345 G A rs1056522 CHST13 Nonsynonymous SNV R317Q 0.239 0.211 0.224 87 280 81 0.223 66 25 15 9 7 13.6 15523 chr15 66618342 66618342 A G rs3803412 DIS3L Nonsynonymous SNV D488G 0.262 0.193 0.19 107 308 74 0.274 56 33 3 4 16 13.84 15524 chr3 126268918 126268918 G A rs869463 C3orf22 Synonymous SNV L73L 0.18 0.161 0.17 61 211 62 0.156 50 17 8 6 5 2.915 15525 chr15 66629403 66629403 C A rs3759786 TIPIN Nonsynonymous SNV A166S 0.105 0.143 0.143 41 123 55 0.105 42 7 5 2 2 8.621 15526 chr3 126708453 126708453 T C rs6773789 PLXNA1 Synonymous SNV T339T 0.346 0.341 0.371 134 406 131 0.344 109 68 27 21 26 0.002 15527 chr13 95034749 95034749 G A rs1535692 GPC6 Nonsynonymous SNV V412M 0.2 0.154 0.224 69 235 59 0.177 66 21 7 4 9 Benign 14.03 15528 chr13 88328872 88328872 A G rs201902798 SLITRK5 Nonsynonymous SNV N410S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.07 15529 chr3 126733053 126733053 C T rs11719489 PLXNA1 Synonymous SNV R813R 0.194 0.193 0.177 74 228 74 0.19 52 22 7 4 7 16.31 15530 chr15 66644521 66644521 C G rs9806123 TIPIN Nonsynonymous SNV R53P 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 13.61 15531 chr13 88330085 88330085 G A rs75906868 SLITRK5 Synonymous SNV Q814Q 0.032 0.023 0.037 12 37 9 0.031 11 1 0 2 2 3.564 15532 chr13 39263646 39263646 G A rs58363253 FREM2 Nonsynonymous SNV R722K 0.012 0.01 0.017 7 14 4 0.018 5 0 0 1 0 Likely benign 11.61 15533 chr3 126737268 126737268 C A rs4679323 PLXNA1 Synonymous SNV L1264L 0.618 0.654 0.599 247 725 251 0.633 176 227 88 52 78 13.23 15534 chr13 95273447 95273447 G A rs12429818 GPR180 Synonymous SNV T284T 0.078 0.07 0.082 36 92 27 0.092 24 2 1 1 4 13.65 15535 chr15 67234251 67234251 A G rs266383 LINC02206 0 0 0.997 0 0 0 0 293 0 0 146 0 4.946 15536 chr15 67457335 67457335 A G rs1065080 SMAD3 Synonymous SNV L59L 0.886 0.893 0.898 350 1040 343 0.897 264 458 155 119 158 Benign 10.37 15537 chr3 127323830 127323830 C T rs893293 MCM2 Synonymous SNV I168I 0.771 0.771 0.779 303 905 296 0.777 229 340 117 84 120 Benign 17.22 15538 chr15 67528374 67528374 T G rs7173826 AAGAB Nonsynonymous SNV I23L 0.353 0.409 0.34 149 415 157 0.382 100 71 30 21 30 Benign 23.9 15539 chr13 95157167 95157167 C T rs9556382 DCT Nonsynonymous SNV R35K 0.309 0.365 0 125 363 140 0.321 0 48 25 0 23 4.305 15540 chr13 39263023 39263023 C T rs12874397 FREM2 Synonymous SNV A514A 0.24 0.247 0.252 80 282 95 0.205 74 27 10 11 8 Benign 11.22 15541 chr3 127379270 127379270 C T rs920232 PODXL2 Synonymous SNV T133T 0.175 0.156 0.17 66 205 60 0.169 50 14 5 4 4 12.92 15542 chr13 95157208 95157208 T C rs9561575 DCT Synonymous SNV L21L 0.31 0.365 0 125 364 140 0.321 0 49 25 0 23 2.022 15543 chr13 52544805 52544805 C G rs1801244 ATP7B Nonsynonymous SNV V456L 0.488 0.474 0.524 187 573 182 0.479 154 152 49 38 42 Benign 9.223 15544 chr15 67692502 67692502 T C rs7495023 IQCH Synonymous SNV R309R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.581 15545 chr3 127395817 127395817 G A rs35834653 ABTB1 Synonymous SNV L36L 0.071 0.068 0.075 27 83 26 0.069 22 4 2 0 1 7.183 15546 chr13 39263789 39263789 G A rs7327915 FREM2 Nonsynonymous SNV V770M 0.011 0.008 0.017 6 13 3 0.015 5 0 0 1 0 Likely benign 9.791 15547 chr15 67768151 67768151 G C rs3985641 IQCH Nonsynonymous SNV V589L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.896 15548 chr3 127413881 127413881 T C rs4881 MGLL Synonymous SNV L221L 0.102 0.083 0.088 34 120 32 0.087 26 7 2 0 1 8.4 15549 chr13 52548140 52548140 A C rs1801243 ATP7B Nonsynonymous SNV S406A 0.486 0.474 0.527 187 571 182 0.479 155 150 47 39 42 Benign 0.164 15550 chr13 39264083 39264083 C G rs7329939 FREM2 Nonsynonymous SNV L868V 0.012 0.01 0.017 7 14 4 0.018 5 0 0 1 0 Likely benign 13.79 15551 chr3 112969715 112969715 G A rs115004071 BOC Synonymous SNV A137A 0.032 0.034 0.024 16 37 13 0.041 7 1 1 0 0 1.362 15552 chr13 95861804 95861804 A G rs899494 ABCC4 Synonymous SNV I148I 0.764 0.753 0.793 314 897 289 0.805 233 342 110 93 123 6.004 15553 chr15 68583175 68583175 T C rs6494729 FEM1B Synonymous SNV N493N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 15554 chr3 127641968 127641968 C A rs4141499 KBTBD12 Nonsynonymous SNV Q22K 0.555 0.495 0.558 206 652 190 0.528 164 182 45 49 51 0.228 15555 chr3 112991492 112991492 C T rs3814399 BOC Synonymous SNV A301A 0.013 0.008 0.007 8 15 3 0.021 2 0 0 0 0 12.59 15556 chr15 68605169 68605169 G A rs4777035 ITGA11 Nonsynonymous SNV P972L 0.58 0.596 0.551 239 681 229 0.613 162 192 59 44 70 24.4 15557 chr13 39586968 39586968 C T rs368546956 PROSER1 Synonymous SNV P785P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 18.91 15558 chr3 112997554 112997554 A G rs775228 BOC Synonymous SNV K580K 0.428 0.398 0.51 159 503 153 0.408 150 108 25 36 31 8.215 15559 chr14 101349764 101349764 C T rs34163305 RTL1 Synonymous SNV P454P 0.243 0.271 0.245 104 285 104 0.267 72 27 14 10 17 6.771 15560 chr3 127983495 127983495 T C rs2811544 EEFSEC Synonymous SNV D219D 0.899 0.917 0.895 355 1055 352 0.91 263 476 161 118 160 4.779 15561 chr15 68624396 68624396 A C rs7168069 ITGA11 Nonsynonymous SNV L524R 0.841 0.852 0.827 320 987 327 0.821 243 418 139 100 131 0.059 15562 chr3 112998265 112998265 A G rs2649878 BOC Synonymous SNV P662P 0.273 0.253 0.347 113 321 97 0.29 102 37 9 21 15 5.365 15563 chr14 101350274 101350274 C T rs61993320 RTL1 Synonymous SNV L284L 0.031 0.036 0.01 10 36 14 0.026 3 0 0 0 0 13.32 15564 chr3 128181777 128181777 A G rs2659690 DNAJB8 Synonymous SNV F104F 0.581 0.542 0.592 206 682 208 0.528 174 193 56 49 45 0.005 15565 chr3 113004240 113004240 C T rs34600669 BOC Synonymous SNV D996D 0.031 0.034 0.024 17 36 13 0.044 7 1 1 0 0 18.97 15566 chr3 128205860 128205860 G C rs1573858 GATA2 Synonymous SNV P5P 0.755 0.737 0.653 291 886 283 0.746 192 332 102 78 108 Benign 13.06 15567 chr15 68628143 68628143 C T rs2306023 ITGA11 Synonymous SNV R439R 0.838 0.836 0.752 320 984 321 0.821 221 414 133 83 132 14.63 15568 chr13 96506596 96506596 T C rs45454901 UGGT2 Nonsynonymous SNV H1381R 0.036 0.039 0.041 13 42 15 0.033 12 0 1 1 0 23 15569 chr14 101350670 101350670 - TCT rs35401447 RTL1 E152_Q153insE 0.285 0.315 0.289 116 335 121 0.297 85 49 16 11 18 15570 chr15 68649587 68649587 G A rs12907890 ITGA11 Synonymous SNV N217N 0.773 0.776 0.731 311 907 298 0.797 215 348 113 80 124 13.18 15571 chr3 128356852 128356852 C T rs1697 RPN1 Synonymous SNV P141P 0.596 0.63 0.599 225 700 242 0.577 176 212 74 50 63 16.18 15572 chr14 102508056 102508056 C A rs10129889 DYNC1H1 Nonsynonymous SNV H4029Q 0.07 0.06 0.071 16 82 23 0.041 21 3 2 0 0 Benign 19.36 15573 chr15 69098859 69098859 C T rs3743090 ANP32A-IT1 0 0 0.956 0 0 0 0 281 0 0 135 0 3.757 15574 chr13 96529571 96529571 T C rs41315036 UGGT2 Synonymous SNV L1145L 0.035 0.039 0.037 13 41 15 0.033 11 0 1 1 0 0.013 15575 chr13 98649798 98649798 A G rs148018572 IPO5 Synonymous SNV L309L 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 9.992 15576 chr13 41515371 41515371 C T rs7987185 ELF1 Synonymous SNV S290S 0.094 0.096 0.085 27 110 37 0.069 25 9 1 1 1 8.734 15577 chr3 128614185 128614185 A C rs1680778 ACAD9 Synonymous SNV R127R 0.296 0.333 0.32 94 348 128 0.241 94 48 23 18 11 Benign 1.474 15578 chr15 69238445 69238445 G A rs3743093 SPESP1 Nonsynonymous SNV G191E 0.588 0.573 0.592 224 690 220 0.574 174 200 62 50 64 0.002 15579 chr3 113015660 113015660 G A rs2270781 CFAP44 Nonsynonymous SNV T1717M 0.144 0.135 0.187 71 169 52 0.182 55 14 2 4 3 25.2 15580 chr13 52952024 52952024 C A rs73484102 THSD1 Nonsynonymous SNV R641I 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 23 15581 chr3 128720487 128720487 A G rs1871951 EFCC1 Nonsynonymous SNV T6A 0.495 0.57 0.52 183 581 219 0.469 153 188 77 49 54 0.002 15582 chr15 69325581 69325581 C T rs311893 NOX5 Synonymous SNV C245C 0.96 0.974 0.929 384 1127 374 0.985 273 542 182 127 189 16.98 15583 chr13 98829217 98829217 C T rs16955011 RNF113B Nonsynonymous SNV V92M 0.052 0.06 0.034 21 61 23 0.054 10 2 0 0 1 11.51 15584 chr15 69327825 69327825 C T rs311889 NOX5 Synonymous SNV T301T 0.96 0.974 0.929 384 1127 374 0.985 273 542 182 127 189 6.004 15585 chr13 52952634 52952634 C G rs56013270 THSD1 Nonsynonymous SNV D438H 0.01 0.008 0.01 4 12 3 0.01 3 0 0 0 0 22 15586 chr15 69328226 69328226 C T rs12907196 NOX5 Nonsynonymous SNV L352F 0.555 0.534 0.48 223 651 205 0.572 141 178 51 38 58 24.8 15587 chr3 128755953 128755953 G A rs3732430 EFCC1 Nonsynonymous SNV R528Q 0.407 0.505 0.381 168 478 194 0.431 112 108 54 19 37 26 15588 chr15 69561518 69561518 G A rs3865014 GLCE Nonsynonymous SNV V340I 0.759 0.768 0.731 300 891 295 0.769 215 343 111 76 115 0.001 15589 chr3 113046607 113046607 T C rs7650771 CFAP44 Synonymous SNV L1392L 0.06 0.078 0.068 23 70 30 0.059 20 4 2 2 1 5.705 15590 chr3 128890350 128890350 G A rs4303883 CNBP Synonymous SNV D52D 0.945 0.932 0.929 374 1110 358 0.959 273 526 168 127 180 6.993 15591 chr13 99064244 99064244 T C rs11556829 FARP1 Synonymous SNV F594F 0.057 0.06 0.024 22 67 23 0.056 7 4 1 1 1 9.696 15592 chr15 69682021 69682021 G A rs12438855 PAQR5 Synonymous SNV T138T 0.012 0.003 0.027 2 14 1 0.005 8 0 0 0 0 10.72 15593 chr3 113049270 113049270 T G rs6768642 CFAP44 Nonsynonymous SNV K1287N 0.037 0.042 0.02 16 44 16 0.041 6 1 1 0 0 0.001 15594 chr3 129281980 129281980 C T rs2713625 PLXND1 Nonsynonymous SNV S1542N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.81 15595 chr15 69732736 69732736 C T rs937724 KIF23 Synonymous SNV T549T 0.969 0.979 0.949 380 1138 376 0.974 279 551 184 132 186 14.4 15596 chr15 70345626 70345626 C T rs1057865 TLE3 Synonymous SNV T568T 0.545 0.576 0.497 226 640 221 0.579 146 181 67 39 62 14.27 15597 chr14 103440473 103440473 G C rs8009219 CDC42BPB Synonymous SNV L507L 0.704 0.698 0.66 269 826 268 0.69 194 295 95 62 96 6.513 15598 chr3 129293183 129293183 T C rs2625962 PLXND1 Nonsynonymous SNV H894R 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 0.015 15599 chr13 42361654 42361654 C T rs535298426 VWA8 Nonsynonymous SNV A697T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.9 15600 chr13 53419765 53419765 G A rs5030686 PCDH8 Synonymous SNV P878P 0.086 0.109 0.075 47 101 42 0.121 22 4 2 0 2 0.251 15601 chr3 113085143 113085143 T C rs74521061 CFAP44 Nonsynonymous SNV M820V 0.033 0.042 0.031 24 39 16 0.062 9 1 0 0 0 4.915 15602 chr15 70346923 70346923 C T rs2228178 TLE3 Synonymous SNV S490S 0.545 0.576 0.497 226 640 221 0.579 146 181 67 39 62 21.3 15603 chr14 103552398 103552398 G A rs2403125 LBHD2 Nonsynonymous SNV A17T 0.802 0.789 0 325 942 303 0.833 0 381 119 0 135 2.504 15604 chr13 53420344 53420344 A G rs5030685 PCDH8 Nonsynonymous SNV V743A 0.086 0.109 0.075 46 101 42 0.118 22 4 2 0 2 13.52 15605 chr15 70351788 70351788 T C rs2133977 TLE3 Synonymous SNV G186G 0.832 0.828 0.779 330 977 318 0.846 229 413 133 90 139 5.081 15606 chr14 103556102 103556102 T G rs12882976 LBHD2 Nonsynonymous SNV S99A 0.486 0.469 0 206 570 180 0.528 0 141 36 0 56 1.79 15607 chr3 129546729 129546729 T C rs784689 TMCC1 Nonsynonymous SNV S51G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.28 15608 chr3 113098217 113098217 G A rs58988763 CFAP44 Nonsynonymous SNV P745L 0.036 0.042 0.02 16 42 16 0.041 6 1 1 0 0 26.7 15609 chr13 99476655 99476655 G A rs11617965 DOCK9 Synonymous SNV N1690N 0.01 0.016 0.007 10 12 6 0.026 2 0 0 0 0 Benign 13.46 15610 chr15 70352968 70352968 C G rs2228176 TLE3 Synonymous SNV S149S 0.281 0.247 0.272 97 330 95 0.249 80 46 15 11 12 15.39 15611 chr13 53420886 53420886 G A rs5030684 PCDH8 Synonymous SNV Y562Y 0.086 0.109 0.071 46 101 42 0.118 21 4 2 0 2 6.2 15612 chr15 70960068 70960068 G A rs934005 UACA Synonymous SNV Y972Y 0.784 0.76 0.765 317 920 292 0.813 225 360 110 93 129 0.017 15613 chr13 99376181 99376181 C T rs2297322 SLC15A1 Nonsynonymous SNV S117N 0.175 0.167 0.18 56 206 64 0.144 53 15 3 1 3 0.001 15614 chr3 129694681 129694681 C G rs5658 TRH Nonsynonymous SNV L8V 0.106 0.125 0.071 41 124 48 0.105 21 8 1 2 1 Benign 18.88 15615 chr15 70991925 70991925 G C rs4776525 UACA Synonymous SNV T38T 0.893 0.867 0.878 350 1048 333 0.897 258 471 142 113 157 9.999 15616 chr3 113127991 113127991 C A rs16845107 CFAP44 Nonsynonymous SNV K284N 0.065 0.083 0.065 24 76 32 0.062 19 4 2 2 1 6.694 15617 chr13 99907341 99907341 G A rs3742130 GPR18 Synonymous SNV N262N 0.284 0.318 0.286 105 334 122 0.269 84 52 20 13 13 0.003 15618 chr15 71125093 71125093 G A rs3825970 LARP6 Synonymous SNV C74C 0.672 0.635 0.622 268 789 244 0.687 183 261 74 59 90 8.222 15619 chr13 99738554 99738554 G A rs117633128 DOCK9 Nonsynonymous SNV R18W 0.107 0.089 0.048 43 126 34 0.11 14 6 3 1 1 34 15620 chr13 31891811 31891811 G A rs369715616 B3GLCT Synonymous SNV T391T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 15621 chr13 61102576 61102578 ATA - rs148917045 TDRD3 N408del 0.164 0.146 0.153 66 192 56 0.169 45 25 3 3 6 15622 chr3 113145006 113145006 C T rs73239107 CFAP44 Synonymous SNV L124L 0.142 0.133 0.187 70 167 51 0.179 55 14 2 4 3 9.366 15623 chr15 71125204 71125204 A G rs1549317 LARP6 Synonymous SNV F37F 0.674 0.638 0.626 269 791 245 0.69 184 263 75 59 91 0.009 15624 chr3 129695954 129695954 T C rs5662 TRH Synonymous SNV L208L 0.998 1 0.993 389 1172 384 0.997 292 586 192 145 194 Benign 0.004 15625 chr15 71125339 71125339 G A rs28676469 LARP6 Synonymous SNV F176F 0.052 0.034 0.058 26 61 13 0.067 17 2 0 0 2 8.36 15626 chr3 113146130 113146130 T C rs59722850 CFAP44 Nonsynonymous SNV K53E 0.181 0.182 0.214 89 213 70 0.228 63 21 4 5 6 0.057 15627 chr3 129696041 129696041 A G rs5663 TRH Synonymous SNV R237R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 0.004 15628 chr15 71276481 71276483 CAA - rs3834543 LRRC49 Q359del 0.511 0.51 0.456 201 600 196 0.515 134 156 51 27 49 15629 chr13 42803263 42803263 T C rs17646069 DGKH Nonsynonymous SNV V1065A 0.015 0.016 0.037 7 18 6 0.018 11 0 0 0 0 23.3 15630 chr3 130107442 130107442 C T rs138213174 COL6A5 Synonymous SNV A627A 0.024 0.023 0.01 5 28 9 0.013 3 0 0 0 0 14.48 15631 chr3 113146131 113146131 G A rs58474121 CFAP44 Synonymous SNV T52T 0.037 0.042 0.024 16 44 16 0.041 7 1 1 0 0 4.993 15632 chr15 72040774 72040774 C T rs1872056 THSD4 Synonymous SNV C392C 0.183 0.18 0.248 80 215 69 0.205 73 23 5 8 7 14 15633 chr3 130110526 130110526 T C rs751310572 COL6A5 Nonsynonymous SNV V974A 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 19.52 15634 chr14 103804756 103804756 - CAC rs548001106 EIF5 P185_N186insP 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15635 chr15 72104364 72104364 A G rs1805020 NR2E3 Nonsynonymous SNV E140G 0.018 0.018 0.031 6 21 7 0.015 9 0 0 1 1 Benign/Likely benign 5.733 15636 chr3 113169205 113169205 C T rs11920725 SPICE1 Synonymous SNV Q767Q 0.038 0.044 0.031 18 45 17 0.046 9 1 1 0 0 10.56 15637 chr3 113176122 113176122 G A rs7637618 SPICE1 Synonymous SNV P506P 0.278 0.299 0.282 85 326 115 0.218 83 49 14 10 9 13.01 15638 chr3 130116696 130116696 A C rs12488457 COL6A5 Nonsynonymous SNV T1280P 0.651 0.661 0.667 250 764 254 0.641 196 256 86 70 81 23.2 15639 chr13 73319166 73319166 C A rs186494455 BORA Nonsynonymous SNV L136I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 15640 chr15 72104433 72104433 T C rs1805021 NR2E3 Nonsynonymous SNV M163T 0.018 0.018 0.031 5 21 7 0.013 9 0 0 1 1 Benign/Likely benign 2.238 15641 chr3 113187675 113187675 G C rs16861032 SPICE1 Nonsynonymous SNV L275V 0.039 0.042 0.024 16 46 16 0.041 7 2 1 0 0 0.001 15642 chr14 103986255 103986255 C T rs1803283 CKB Synonymous SNV E388E 0.574 0.563 0.541 215 674 216 0.551 159 178 53 42 60 13.07 15643 chr13 41814538 41814538 G A rs139410221 MTRF1 Synonymous SNV S243S 0.029 0.018 0.014 9 34 7 0.023 4 0 0 0 0 Benign 7.8 15644 chr13 23911234 23911234 G T rs146722795 SACS Nonsynonymous SNV L2114I 0.008 0 0 0 9 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 15645 chr3 130124491 130124491 G A rs10934940 COL6A5 Synonymous SNV A1447A 0.71 0.745 0.745 268 834 286 0.687 219 301 108 82 93 9.004 15646 chr15 72105929 72105929 C - rs11351249 NR2E3 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15647 chr14 103988180 103988180 G T rs1136165 CKB Synonymous SNV R176R 0.533 0.51 0.452 198 626 196 0.508 133 159 53 38 53 13.8 15648 chr3 113222036 113222036 G A rs11537650 SPICE1 Synonymous SNV P46P 0.256 0.258 0.238 77 301 99 0.197 70 42 11 7 7 14.18 15649 chr15 72172883 72172883 G C rs2306575 MYO9A Nonsynonymous SNV H1805Q 0.019 0.018 0.031 5 22 7 0.013 9 0 0 1 1 0.551 15650 chr3 130124989 130124989 C T rs4688761 COL6A5 Synonymous SNV D1465D 0.654 0.674 0.67 253 768 259 0.649 197 255 90 67 84 10.05 15651 chr13 75861129 75861129 T A rs200847492 TBC1D4 Synonymous SNV S1169S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.717 15652 chr13 23929095 23929095 T C rs1536365 SACS Synonymous SNV L405L 0.083 0.068 0.109 28 98 26 0.072 32 5 1 0 2 Benign/Likely benign 0.629 15653 chr3 113222054 113222054 G A rs75865495 SPICE1 Synonymous SNV T40T 0.037 0.036 0.024 13 43 14 0.033 7 2 1 0 0 11.38 15654 chr3 130125116 130125116 G C rs1497312 COL6A5 Nonsynonymous SNV C1477S 0.709 0.745 0.745 269 832 286 0.69 219 301 108 82 93 0.371 15655 chr14 100759277 100759277 C T rs3742379 SLC25A29 Synonymous SNV R19R 0.264 0.255 0.238 95 310 98 0.244 70 39 10 8 13 8.229 15656 chr15 72191073 72191073 T C rs2415128 MYO9A Synonymous SNV R1257R 0.738 0.76 0.714 286 866 292 0.733 210 323 110 76 107 0.686 15657 chr13 45148257 45148257 G A rs9525983 TSC22D1 Nonsynonymous SNV P652S 0.086 0.096 0.095 24 101 37 0.062 28 5 1 2 0 0.003 15658 chr3 113252042 113252042 C T rs3732799 SIDT1 Synonymous SNV L58L 0.102 0.141 0.112 38 120 54 0.097 33 7 5 4 2 17.48 15659 chr13 23930055 23930055 A T rs2031640 SACS Nonsynonymous SNV N85K 0.083 0.068 0.109 28 97 26 0.072 32 5 1 0 2 Benign/Likely benign 22.8 15660 chr15 72191266 72191266 C T rs2415129 MYO9A Nonsynonymous SNV G1193E 0.98 0.979 0.946 383 1150 376 0.982 278 563 184 134 189 3.642 15661 chr3 113285276 113285276 G A rs2271496 SIDT1 Nonsynonymous SNV V78M 0.035 0.036 0.027 15 41 14 0.038 8 2 1 0 0 23.3 15662 chr3 130134492 130134492 T C rs16827497 COL6A5 Nonsynonymous SNV S1589P 0.631 0.643 0.745 234 741 247 0.6 219 297 107 82 93 0.278 15663 chr13 45149662 45149662 G A rs9525984 TSC22D1 Synonymous SNV A183A 0.086 0.096 0.095 24 101 37 0.062 28 5 1 2 0 6.112 15664 chr15 72432583 72432583 A G rs930871 SENP8 Nonsynonymous SNV T207A 0.998 0.997 0.98 388 1172 383 0.995 288 585 191 142 193 0.004 15665 chr3 113286405 113286405 C T rs2292511 SIDT1 Synonymous SNV N121N 0.2 0.221 0.245 91 235 85 0.233 72 26 9 7 4 9.452 15666 chr3 130162395 130162395 A G rs9883988 COL6A5 Nonsynonymous SNV Q2188R 0.926 0.935 0.949 363 1087 359 0.931 279 503 168 132 170 0.002 15667 chr14 100795139 100795139 G T rs35007880 SLC25A47 Nonsynonymous SNV R135L 0.516 0.531 0.534 194 606 204 0.497 157 158 53 41 38 23 15668 chr15 72637795 72637795 T C rs4777502 HEXA Synonymous SNV E506E 0.993 0.995 0.976 388 1166 382 0.995 287 579 190 141 193 Benign 15.86 15669 chr13 42875587 42875587 A G rs61752500 AKAP11 Nonsynonymous SNV E902G 0.009 0.003 0.007 5 10 1 0.013 2 0 0 0 0 Benign 18.09 15670 chr15 72638892 72638892 T C rs1800431 HEXA Nonsynonymous SNV I436V 0.993 0.995 0.976 388 1166 382 0.995 287 579 190 141 193 Benign 13.21 15671 chr3 130174334 130174334 G A rs819085 COL6A5 Nonsynonymous SNV G2205D 0.934 0.927 0.946 364 1096 356 0.933 278 511 166 132 170 2.959 15672 chr13 42876290 42876290 A C rs41288311 AKAP11 Synonymous SNV T1136T 0.061 0.055 0.085 27 72 21 0.069 25 4 2 1 0 0.006 15673 chr15 72668305 72668305 G A rs1800428 HEXA Synonymous SNV S3S 0.043 0.036 0.071 24 51 14 0.062 21 2 0 2 1 Benign/Likely benign 16.81 15674 chr3 113376117 113376119 TGC - USF3 Q1478del 0.137 0.159 0 60 161 61 0.154 0 0 0 0 0 15675 chr15 72879653 72879653 - TTG rs113700837 MIR630 0 0 0.966 0 0 0 0 284 0 0 140 0 15676 chr3 130187817 130187817 T C rs322113 COL6A5 Synonymous SNV I2323I 0.853 0.88 0.884 324 1002 338 0.831 260 426 150 114 132 0.002 15677 chr15 73023937 73023937 T C rs12914333 BBS4 Synonymous SNV F130F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 3.218 15678 chr15 73027478 73027478 T C rs2277598 BBS4 Nonsynonymous SNV I182T 0.658 0.695 0.66 255 772 267 0.654 194 258 91 64 89 Benign 3.045 15679 chr3 130190630 130190630 G A rs322117 COL6A5 Nonsynonymous SNV S2560N 0.795 0.828 0.823 307 933 318 0.787 242 367 132 98 116 0.566 15680 chr15 73067234 73067234 T C rs11634630 ADPGK Synonymous SNV A24A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.806 15681 chr3 130190721 130190721 T - rs11355796 COL6A5 Stop gain L2591* 0.729 0.75 0.728 288 856 288 0.738 214 313 109 77 104 15682 chr13 37583928 37583928 G T SUPT20H Nonsynonymous SNV A785E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.89 15683 chr14 104639351 104639351 C T rs117777904 KIF26A Synonymous SNV P486P 0.032 0.044 0.041 24 38 17 0.062 12 1 0 0 1 1.289 15684 chr3 113655207 113655207 C T rs3765114 GRAMD1C Synonymous SNV N312N 0.293 0.307 0.306 108 344 118 0.277 90 55 16 13 14 14.17 15685 chr3 130284284 130284284 G A rs9830253 COL6A6 Nonsynonymous SNV A370T 0.833 0.859 0.844 309 978 330 0.792 248 406 143 105 124 25.2 15686 chr15 73541513 73541513 A G rs3736510 NEO1 Synonymous SNV K573K 0.468 0.443 0.459 174 550 170 0.446 135 138 37 29 43 8.952 15687 chr13 44734772 44734772 C T rs202158906 SMIM2 Nonsynonymous SNV A74T 0.012 0.013 0.007 6 14 5 0.015 2 0 0 0 0 19.07 15688 chr14 104641792 104641792 C T rs2487305 KIF26A Synonymous SNV A889A 0.371 0.357 0.415 142 435 137 0.364 122 73 23 30 24 14.59 15689 chr15 73564881 73564881 C T rs1131854 NEO1 Synonymous SNV S981S 0.476 0.445 0.466 173 559 171 0.444 137 143 38 29 41 15.26 15690 chr15 73614834 73614834 T C rs529004 HCN4 Synonymous SNV P1200P 0.925 0.904 0.905 345 1086 347 0.885 266 504 157 122 152 Benign 1.26 15691 chr3 130290007 130290007 T C rs61730505 COL6A6 Nonsynonymous SNV I916T 0.042 0.063 0.054 11 49 24 0.028 16 0 0 0 1 25.7 15692 chr14 102446161 102446161 G A rs3818188 DYNC1H1 Synonymous SNV P208P 0.181 0.208 0.153 86 212 80 0.221 45 28 10 4 6 Benign 8.925 15693 chr13 46115693 46115693 C T rs41292933 ERICH6B Synonymous SNV A665A 0.041 0.047 0.037 16 48 18 0.041 11 1 1 0 1 12.77 15694 chr15 73621946 73621946 G A rs12909882 HCN4 Synonymous SNV L520L 0.06 0.042 0.058 15 71 16 0.038 17 2 1 0 0 Benign 10.82 15695 chr15 74032783 74032783 A G rs28594180 INSYN1 Synonymous SNV S119S 0.494 0.49 0.527 195 580 188 0.5 155 140 50 39 48 4.501 15696 chr3 130300650 130300650 T C rs6439249 COL6A6 Synonymous SNV L1265L 0.884 0.909 0.888 345 1038 349 0.885 261 459 161 117 152 0.008 15697 chr14 104643421 104643421 T C rs2487302 KIF26A Synonymous SNV L1432L 0.422 0.404 0.439 179 496 155 0.459 129 100 28 32 35 0.006 15698 chr15 74219546 74219546 G T rs1048661 LOXL1 Nonsynonymous SNV R141L 0.298 0.268 0.269 109 350 103 0.279 79 49 18 13 13 risk factor 29.8 15699 chr14 101348584 101348584 C G rs11623267 RTL1 Nonsynonymous SNV E848Q 0.246 0.281 0.269 85 289 108 0.218 79 37 18 8 9 22.8 15700 chr14 102482399 102482399 C T rs17541158 DYNC1H1 Synonymous SNV I2483I 0.06 0.065 0.054 26 70 25 0.067 16 2 1 1 1 Benign 18.34 15701 chr3 130734061 130734061 C T rs7641006 ASTE1 Synonymous SNV T583T 0.21 0.167 0.214 94 247 64 0.241 63 31 2 5 9 2.518 15702 chr14 104643721 104643721 C A rs2487301 KIF26A Synonymous SNV A1532A 0.349 0.318 0.408 133 410 122 0.341 120 78 24 29 25 12.68 15703 chr13 77527791 77527791 G T rs611161 ACOD1 Synonymous SNV P77P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 4.444 15704 chr3 130743178 130743178 A G rs61635770 ASTE1 Synonymous SNV L325L 0.029 0.036 0.034 8 34 14 0.021 10 1 0 0 0 0.373 15705 chr15 74277795 74277795 T C rs10851866 STOML1 Synonymous SNV A168A 0.558 0.557 0.578 224 655 214 0.574 170 181 61 46 67 2.787 15706 chr13 77529644 77529644 A G rs640192 ACOD1 Nonsynonymous SNV N152S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 0.052 15707 chr3 130743812 130743812 G A rs35558913 ASTE1 Synonymous SNV Y113Y 0.21 0.167 0.218 94 247 64 0.241 64 30 2 5 9 0.063 15708 chr15 74290464 74290464 G A rs572620428 PML Synonymous SNV A83A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.301 15709 chr15 74328116 74328116 A G rs743580 PML Nonsynonymous SNV S724G 0.454 0.445 0.463 200 533 171 0.513 136 118 37 34 50 Benign 3.499 15710 chr3 130947435 130947435 A T rs3738000 NEK11 Nonsynonymous SNV E347V 0.732 0.747 0.724 277 859 287 0.71 213 316 109 81 95 27.1 15711 chr13 77651289 77651289 C T rs17067178 MYCBP2 Synonymous SNV T3906T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 19.55 15712 chr14 105054934 105054934 A G rs12880814 C14orf180 Synonymous SNV P99P 0.091 0.094 0.092 29 107 36 0.074 27 8 0 2 2 0.113 15713 chr15 74328141 74328141 G T rs743581 PML Nonsynonymous SNV G732V 0.279 0.26 0.238 121 327 100 0.31 70 46 14 10 22 Benign 0.683 15714 chr13 77745673 77745673 G C rs17067287 MYCBP2 Synonymous SNV V1916V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 2.038 15715 chr14 105055119 105055127 GACGGGCAG - rs111285011 C14orf180 *161* 0.431 0.411 0.456 148 506 158 0.379 134 111 31 32 35 15716 chr3 131268824 131268824 T C rs11915192 CPNE4 Synonymous SNV S441S 0.099 0.083 0.109 38 116 32 0.097 32 4 2 2 3 8.045 15717 chr3 132068798 132068798 G A rs2228403 ACPP Synonymous SNV K239K 0.014 0.008 0.01 3 16 3 0.008 3 0 0 0 0 11.29 15718 chr3 115382660 115382660 C T GAP43 Nonsynonymous SNV A12V 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 22.6 15719 chr15 74336656 74336656 C T rs61751122 PML Synonymous SNV A652A 0.044 0.029 0.024 17 52 11 0.044 7 1 0 0 1 12.82 15720 chr3 132068831 132068831 C T rs2228402 ACP3 Synonymous SNV L250L 0.573 0.56 0.565 217 673 215 0.556 166 189 60 46 59 5.889 15721 chr15 74467856 74467856 G A rs1052622 ISLR Synonymous SNV T219T 0.81 0.81 0.793 318 951 311 0.815 233 384 128 92 130 0.609 15722 chr3 132075554 132075554 T C rs3181784 ACP3 Synonymous SNV Y298Y 0.405 0.411 0.418 153 475 158 0.392 123 93 31 29 30 0.389 15723 chr13 39422803 39422803 C T rs372745449 FREM2 Synonymous SNV S2125S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.96 15724 chr3 118621500 118621500 C T rs34908332 IGSF11 Nonsynonymous SNV S388N 0.124 0.096 0.15 43 146 37 0.11 44 7 5 5 2 15.89 15725 chr15 74654146 74654146 T C rs4505257 PPIAP46 0 0 0.119 0 0 0 0 35 0 0 0 0 0.5 15726 chr15 74703929 74703929 T C rs741761 SEMA7A Synonymous SNV Q501Q 0.3 0.305 0.344 140 352 117 0.359 101 56 14 14 23 0.048 15727 chr13 25367301 25367301 C T rs1158061 RNF17 Synonymous SNV L353L 0.214 0.182 0.184 62 251 70 0.159 54 23 6 6 3 0.425 15728 chr3 132075707 132075707 A G rs2071505 ACP3 Synonymous SNV E349E 0.573 0.56 0.568 217 673 215 0.556 167 189 60 46 59 3.723 15729 chr15 74836316 74836316 A G rs8043032 ARID3B Synonymous SNV Q13Q 0.17 0.167 0.163 74 200 64 0.19 48 21 6 4 6 0.069 15730 chr14 105174186 105174186 C T rs181694819 INF2 Nonsynonymous SNV P528S 0.018 0.023 0.01 8 21 9 0.021 3 0 0 0 0 Benign 12.89 15731 chr3 132360883 132360883 C T rs821572 ACAD11 Nonsynonymous SNV R157H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 18.04 15732 chr15 74908132 74908132 G A rs8040674 CLK3 Nonsynonymous SNV A113T 0.054 0.057 0.078 18 63 22 0.046 23 6 0 2 1 21.9 15733 chr13 46801970 46801970 A G rs7338697 LRRC63 Nonsynonymous SNV M137V 0.101 0.148 0.133 55 118 57 0.141 39 8 4 4 2 0.001 15734 chr14 105179184 105179184 G A rs142678449 INF2 Nonsynonymous SNV R877Q 0.037 0.01 0.024 9 44 4 0.023 7 0 0 0 0 Benign 12.21 15735 chr15 75047426 75047426 C T rs2470890 CYP1A2 Synonymous SNV N516N 0.581 0.549 0.537 221 682 211 0.567 158 184 55 46 63 Benign 2.092 15736 chr13 39586979 39586979 G T rs41286143 PROSER1 Nonsynonymous SNV P782T 0.009 0.003 0.01 5 11 1 0.013 3 0 0 0 0 8.792 15737 chr3 118865801 118865801 C T rs4077931 TEX55 Synonymous SNV S255S 0.264 0.279 0.262 117 310 107 0.3 77 45 13 7 20 10.4 15738 chr14 102718298 102718298 C T rs140674206 MOK Star tloss M1? 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 21.5 15739 chr3 132441143 132441143 C G rs192633696 NPHP3 Synonymous SNV T19T 0.034 0.039 0.037 15 40 15 0.038 11 0 1 2 0 Conflicting interpretations of pathogenicity 14.31 15740 chr15 75081078 75081078 G A rs2168518 MIR4513 0 0 0.561 0 0 0 0 165 0 0 49 0 1.507 15741 chr13 25744685 25744685 G A rs200938266 AMER2 Nonsynonymous SNV S358L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 26.2 15742 chr13 46802177 46802177 A G rs6561303 LRRC63 Nonsynonymous SNV M206V 0.077 0.109 0.092 34 90 42 0.087 27 5 1 1 0 0.007 15743 chr15 75117912 75117912 G T rs79217743 LMAN1L Nonsynonymous SNV R516M 0.136 0.154 0.139 58 160 59 0.149 41 8 2 4 3 24.9 15744 chr3 133099245 133099245 G A rs1197314 TMEM108 Synonymous SNV P230P 0.42 0.411 0.432 167 493 158 0.428 127 103 34 29 28 1.765 15745 chr3 118865970 118865970 G A rs4077930 TEX55 Nonsynonymous SNV G312S 0.164 0.151 0.187 73 192 58 0.187 55 15 4 5 9 19.29 15746 chr14 102729886 102729886 G A rs34931752 MOK Stop gain R64X 0.051 0.031 0.041 24 60 12 0.062 12 5 0 2 0 38 15747 chr3 133167363 133167363 G A rs2276737 BFSP2 Synonymous SNV A201A 0.649 0.693 0.575 256 762 266 0.656 169 257 95 52 85 14.38 15748 chr15 75146371 75146371 C T rs77456595 SCAMP2 Synonymous SNV P72P 0.078 0.065 0.085 34 92 25 0.087 25 3 2 0 0 17.63 15749 chr13 80911782 80911782 T G rs141331436 SPRY2 Nonsynonymous SNV D20A 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 22.4 15750 chr14 102792386 102792386 T C rs7158731 ZNF839 Nonsynonymous SNV L2P 0.159 0.164 0.177 58 187 63 0.149 52 13 4 6 3 6.577 15751 chr15 75336729 75336729 A G rs2304899 PPCDC Nonsynonymous SNV I46M 0.914 0.919 0.935 362 1073 353 0.928 275 495 161 128 171 11.56 15752 chr3 133329943 133329943 G A rs1444601 TOPBP1 Synonymous SNV L1355L 0.777 0.771 0.748 300 912 296 0.769 220 353 114 80 115 12.21 15753 chr14 105180607 105180607 T C rs186075307 INF2 Synonymous SNV L1036L 0.013 0.021 0.01 8 15 8 0.021 3 0 0 0 0 Benign 0.163 15754 chr3 133356790 133356790 G A rs17301766 TOPBP1 Nonsynonymous SNV S812L 0.165 0.19 0.194 76 194 73 0.195 57 17 7 7 6 Benign 23.5 15755 chr14 105180706 105180706 A C rs1128840 INF2 Synonymous SNV P1069P 0.581 0.555 0.429 212 682 213 0.544 126 187 55 54 56 Benign 0.005 15756 chr15 75498548 75498548 A G rs1466663 C15orf39 Synonymous SNV A53A 0.997 1 0.993 388 1171 384 0.995 292 584 192 145 193 0.033 15757 chr14 102792631 102792631 G A rs7158139 ZNF839 Nonsynonymous SNV D84N 0.159 0.164 0.177 58 187 63 0.149 52 13 4 6 3 0.001 15758 chr14 105196230 105196230 A C rs80097179 ADSS1 Star tloss M1? 0.301 0.323 0.156 112 353 124 0.287 46 58 24 8 19 Benign 0.002 15759 chr15 75498744 75498744 G C rs1873379 C15orf39 Nonsynonymous SNV A119P 0.187 0.159 0.16 72 219 61 0.185 47 20 4 4 6 4.119 15760 chr3 133362154 133362154 A G rs17301889 TOPBP1 Synonymous SNV V632V 0.162 0.19 0.194 76 190 73 0.195 57 17 7 7 6 9.755 15761 chr14 102798055 102798055 G A rs1543540 ZNF839 Nonsynonymous SNV A314T 0.026 0.023 0.041 14 31 9 0.036 12 0 0 0 0 0.046 15762 chr15 75499602 75499602 C A rs12591506 C15orf39 Synonymous SNV R405R 0.986 0.977 0.976 384 1158 375 0.985 287 571 183 140 189 11.98 15763 chr14 105196235 105196235 G A rs34672588 ADSS1 Synonymous SNV V2V 0.405 0.435 0.279 157 476 167 0.403 82 107 44 16 36 5.773 15764 chr3 133368362 133368362 T G rs3192149 TOPBP1 Nonsynonymous SNV K452Q 0.797 0.789 0.755 300 936 303 0.769 222 371 120 81 116 11.48 15765 chr15 75499619 75499619 T C rs11072531 C15orf39 Synonymous SNV P410P 0.997 1 0.993 388 1170 384 0.995 292 583 192 145 193 0.007 15766 chr13 47354101 47354101 C T rs9778 ESD Nonsynonymous SNV G190E 0.147 0.146 0.136 62 172 56 0.159 40 13 6 8 2 25.1 15767 chr14 103429420 103429420 T C rs34301396 CDC42BPB Synonymous SNV E933E 0.049 0.049 0.01 14 57 19 0.036 3 3 0 0 0 5.319 15768 chr15 75499861 75499861 G A rs11072532 C15orf39 Nonsynonymous SNV G491D 0.986 0.977 0.976 384 1158 375 0.985 287 571 183 140 189 18.85 15769 chr14 105211221 105211221 C T rs12432802 ADSS1 Synonymous SNV N177N 0.113 0.102 0.065 33 133 39 0.085 19 5 2 0 2 11.29 15770 chr3 133485133 133485133 A G rs2692696 TF Nonsynonymous SNV I321V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.925 15771 chr3 119128398 119128398 G A rs2305249 ARHGAP31 Synonymous SNV P567P 0.175 0.174 0.153 69 205 67 0.177 45 21 7 3 8 Benign 2.552 15772 chr15 75500713 75500713 G T rs79245819 C15orf39 Nonsynonymous SNV C775F 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 25.8 15773 chr3 119133183 119133183 G A rs3732413 ARHGAP31 Nonsynonymous SNV G803S 0.755 0.75 0.772 304 886 288 0.779 227 337 109 86 125 Benign 0.088 15774 chr3 133486958 133486958 G C rs8649 TF Synonymous SNV L397L 0.236 0.279 0.184 93 277 107 0.238 54 35 19 6 10 Benign 4.002 15775 chr14 105238711 105238711 G A rs139297659 AKT1 Synonymous SNV Y417Y 0.013 0.026 0.01 7 15 10 0.018 3 0 0 0 0 Benign/Likely benign 4.649 15776 chr15 75503147 75503147 G A rs3743211 C15orf39 Nonsynonymous SNV G945D 0.997 1 0.993 388 1170 384 0.995 292 583 192 145 193 1.688 15777 chr3 133666209 133666209 C T rs34550074 SLCO2A1 Nonsynonymous SNV A396T 0.138 0.151 0.163 54 162 58 0.138 48 10 6 5 3 9.654 15778 chr3 119150836 119150836 C T rs1132200 TMEM39A Nonsynonymous SNV A487T 0.147 0.154 0.143 60 172 59 0.154 42 16 6 4 6 23.1 15779 chr14 102898363 102898363 C T rs2273906 TECPR2 Nonsynonymous SNV P439S 0.046 0.034 0.048 14 54 13 0.036 14 2 0 0 0 Benign 14.52 15780 chr15 75645966 75645967 CT - rs5745925 MIR631 0.009 0.018 0.041 11 10 7 0.028 12 1 0 0 1 15781 chr14 105268701 105268701 G A rs61734768 ZBTB42 Synonymous SNV P389P 0.018 0.029 0.034 8 21 11 0.021 10 0 0 0 0 11.41 15782 chr13 95858978 95858978 T C rs2274405 ABCC4 Synonymous SNV S248S 0.497 0.5 0.588 210 584 192 0.538 173 151 41 50 54 0.098 15783 chr13 49281853 49281853 C T rs56867010 CYSLTR2 Synonymous SNV F300F 0.009 0.013 0.031 1 11 5 0.003 9 0 0 1 0 Benign 2.174 15784 chr14 103576443 103576443 T C rs729183 EXOC3L4 Synonymous SNV T684T 0.221 0.216 0.269 73 260 83 0.187 79 28 11 11 6 0.125 15785 chr3 133670073 133670073 T C rs6767412 SLCO2A1 Synonymous SNV R280R 0.145 0.156 0.156 55 170 60 0.141 46 12 6 5 3 0.019 15786 chr14 102900768 102900768 A G rs17791240 TECPR2 Synonymous SNV P538P 0.046 0.034 0.048 14 54 13 0.036 14 2 0 0 0 Benign 0.109 15787 chr15 75650836 75650836 G A rs1128933 MAN2C1 Synonymous SNV D691D 0.468 0.482 0.429 207 550 185 0.531 126 141 43 30 66 5.546 15788 chr3 119222456 119222456 G C rs1131265 TIMMDC1 Synonymous SNV V146V 0.181 0.185 0.156 71 213 71 0.182 46 23 8 4 8 9.116 15789 chr14 105344293 105344293 C T rs61995995 CEP170B Synonymous SNV F19F 0.605 0.578 0.663 228 710 222 0.585 195 217 67 69 69 16.16 15790 chr13 95858996 95858996 T C rs2274406 ABCC4 Synonymous SNV R242R 0.488 0.492 0.561 205 573 189 0.526 165 144 39 46 51 3.396 15791 chr14 103576444 103576444 C G rs744153 EXOC3L4 Nonsynonymous SNV Q685E 0.226 0.216 0.269 74 265 83 0.19 79 28 11 11 6 18.5 15792 chr3 133698349 133698349 C T rs10935090 SLCO2A1 Synonymous SNV S70S 0.119 0.112 0.156 39 140 43 0.1 46 10 4 3 1 17.18 15793 chr15 75970070 75970070 C T rs8023621 CSPG4 Nonsynonymous SNV R1703H 0.348 0.362 0.323 144 409 139 0.369 95 66 24 10 28 22.8 15794 chr3 119256056 119256056 T C rs62264488 CD80 Nonsynonymous SNV T210A 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 0.04 15795 chr14 105349388 105349388 A C rs2028414 CEP170B Synonymous SNV P128P 0.691 0.664 0.721 283 811 255 0.726 212 285 84 79 105 0.003 15796 chr3 134077470 134077470 C G rs1353776 AMOTL2 Nonsynonymous SNV E789D 0.641 0.63 0.67 263 753 242 0.674 197 244 72 72 91 0.001 15797 chr15 76032283 76032283 A G rs34605750 DNM1P35 0 0 0.235 0 0 0 0 69 0 0 7 0 8.291 15798 chr13 41706180 41706180 C T rs147774028 KBTBD6 Synonymous SNV V156V 0.015 0.026 0 4 18 10 0.01 0 0 0 0 0 7.713 15799 chr15 76551852 76551852 G A rs12913096 TYRO3P 0 0 0.418 0 0 0 0 123 0 0 17 0 4.278 15800 chr3 134322814 134322814 G C rs2293294 KY Synonymous SNV G515G 0.372 0.346 0.313 130 437 133 0.333 92 82 25 13 18 0.084 15801 chr15 76552383 76552383 G T rs760582996 TYRO3P 0 0 0.231 0 0 0 0 68 0 0 0 0 0.03 15802 chr15 76552384 76552384 A G rs763810512 TYRO3P 0 0 0.231 0 0 0 0 68 0 0 0 0 0.403 15803 chr15 76552404 76552404 T C rs111604022 TYRO3P 0 0 0.231 0 0 0 0 68 0 0 0 0 1.428 15804 chr3 134323156 134323156 A G rs4955535 KY Synonymous SNV F401F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.032 15805 chr13 96506664 96506664 A G rs11070154 UGGT2 Synonymous SNV T1358T 0.361 0.401 0.378 160 424 154 0.41 111 78 30 22 33 10.22 15806 chr15 76552432 76552432 C T rs796075010 TYRO3P 0 0 0.231 0 0 0 0 68 0 0 0 0 12.28 15807 chr3 119378977 119378977 G A rs2873788 POPDC2 Synonymous SNV R98R 0.205 0.195 0.177 93 241 75 0.238 52 24 9 4 12 7.94 15808 chr15 76630303 76630303 T C rs4636879 ISL2 Synonymous SNV Y81Y 0.776 0.789 0.786 305 911 303 0.782 231 361 118 90 117 0.14 15809 chr13 47345630 47345630 C T rs15303 ESD Nonsynonymous SNV G257D 0.011 0.023 0.007 8 13 9 0.021 2 0 0 0 0 28.3 15810 chr3 134369716 134369716 C A rs13060869 KY Synonymous SNV T29T 0.279 0.305 0.207 102 328 117 0.262 61 44 17 8 12 21.1 15811 chr13 96540204 96540204 T G rs12876018 UGGT2 Nonsynonymous SNV M994L 0.364 0.383 0.388 156 427 147 0.4 114 76 27 24 33 17.97 15812 chr15 76630717 76630717 C T rs62028361 ISL2 Synonymous SNV L125L 0.144 0.109 0.129 56 169 42 0.144 38 16 3 2 4 15.54 15813 chr3 134670524 134670524 C T rs7644369 EPHB1 Synonymous SNV S145S 0.511 0.547 0.507 214 600 210 0.549 149 161 59 40 65 9.647 15814 chr15 77344793 77344793 T A rs11737 TSPAN3 Synonymous SNV V137V 0.666 0.703 0.673 276 782 270 0.708 198 273 95 65 96 16.82 15815 chr15 77450964 77450964 C T rs12909704 PEAK1 Nonsynonymous SNV R1071K 0.399 0.435 0.364 145 468 167 0.372 107 96 32 19 23 0.973 15816 chr13 96555149 96555149 C T rs33949518 UGGT2 Nonsynonymous SNV A821T 0.187 0.198 0.207 98 220 76 0.251 61 24 6 5 10 23.3 15817 chr3 134898742 134898742 C T rs1042787 EPHB1 Synonymous SNV Y600Y 0.325 0.349 0.35 128 381 134 0.328 103 64 18 18 21 10.25 15818 chr15 77907145 77907145 G A rs3743481 LINGO1 Synonymous SNV S368S 0.475 0.419 0.48 168 558 161 0.431 141 137 39 31 36 2.737 15819 chr3 135720851 135720851 G T rs6779903 PPP2R3A Nonsynonymous SNV A171S 0.293 0.279 0.282 118 344 107 0.303 83 52 12 16 18 0.001 15820 chr13 47409020 47409020 A C HTR2A Synonymous SNV A372A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 15821 chr15 77907535 77907535 C G rs2271396 LINGO1 Synonymous SNV L238L 0.685 0.659 0.66 264 804 253 0.677 194 281 85 63 92 5.733 15822 chr15 77907775 77907775 T C rs2271397 LINGO1 Synonymous SNV L158L 0.687 0.656 0.656 264 807 252 0.677 193 284 84 63 92 0.199 15823 chr3 136573440 136573440 A G rs9827648 SLC35G2 Synonymous SNV G46G 0.666 0.661 0.701 259 782 254 0.664 206 267 80 78 90 0.141 15824 chr13 96638651 96638651 C T rs12863903 UGGT2 Nonsynonymous SNV A323T 0.181 0.203 0.177 96 213 78 0.246 52 24 6 4 9 16.65 15825 chr15 77907784 77907784 G A rs2271398 LINGO1 Synonymous SNV I155I 0.685 0.656 0.656 264 804 252 0.677 193 281 84 63 92 10.3 15826 chr14 104407243 104407243 A C rs35337422 RD3L Nonsynonymous SNV I166R 0.204 0.138 0.19 64 240 53 0.164 56 20 2 3 6 26.5 15827 chr15 78369972 78369972 G C rs7176425 TBC1D2B Nonsynonymous SNV A8G 0.314 0.263 0.245 99 369 101 0.254 72 117 35 16 24 4.186 15828 chr3 136574501 136574501 A G rs1052618 SLC35G2 Nonsynonymous SNV K400R 0.665 0.661 0.701 259 781 254 0.664 206 266 80 78 90 7.586 15829 chr15 78390414 78390414 T C rs2289524 SH2D7 Nonsynonymous SNV M137T 0.452 0.464 0.456 179 531 178 0.459 134 132 36 25 39 0.001 15830 chr3 137786442 137786442 T C rs442800 DZIP1L Nonsynonymous SNV K645E 0.698 0.706 0.639 272 820 271 0.697 188 284 95 71 89 0.004 15831 chr14 104638926 104638926 G A rs2275595 KIF26A Synonymous SNV S447S 0.004 0.005 0.024 5 5 2 0.013 7 0 0 0 0 12.87 15832 chr15 78390909 78390909 C T rs12593575 SH2D7 Nonsynonymous SNV R206W 0.182 0.182 0.194 64 214 70 0.164 57 25 7 2 5 9.136 15833 chr13 42872719 42872719 A G rs2273952 AKAP11 Synonymous SNV P134P 0.164 0.148 0.143 61 192 57 0.156 42 16 3 5 4 0.997 15834 chr13 31002567 31002567 A G UBE2L5 Nonsynonymous SNV Y147C 0.002 0 0 0 2 0 0 0 0 0 0 0 5.997 15835 chr3 137787047 137787047 C T rs374045 DZIP1L Nonsynonymous SNV R593H 0.822 0.839 0.718 335 965 322 0.859 211 404 135 97 142 15.08 15836 chr3 120352003 120352003 A G rs146482816 HGD Synonymous SNV D393D 0.011 0.008 0.014 9 13 3 0.023 4 0 0 0 0 Benign 3.743 15837 chr13 42872779 42872779 C T rs2273951 AKAP11 Synonymous SNV Y154Y 0.164 0.148 0.143 61 192 57 0.156 42 16 3 5 4 8.511 15838 chr13 99479139 99479139 T C rs17709314 DOCK9 Synonymous SNV A1637A 0.103 0.094 0.099 41 121 36 0.105 29 2 1 2 1 10.4 15839 chr15 78441769 78441769 T C rs11555541 IDH3A Synonymous SNV S8S 0.273 0.328 0.5 107 321 126 0.274 147 117 45 42 32 11.7 15840 chr15 78454050 78454050 T A rs61752770 IDH3A Nonsynonymous SNV D139E 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Benign 24.7 15841 chr3 137787192 137787192 T C rs446644 DZIP1L Nonsynonymous SNV T545A 0.827 0.839 0.837 335 971 322 0.859 246 404 135 108 142 0.002 15842 chr13 42873782 42873782 G A rs9525605 AKAP11 Synonymous SNV S300S 0.057 0.031 0.041 23 67 12 0.059 12 3 0 0 0 0.041 15843 chr13 51530586 51530586 - A rs200320729 RNASEH2B Frameshift insertion I309Nfs*8 0.043 0.044 0.017 11 50 17 0.028 5 1 1 0 0 15844 chr13 42877265 42877265 G C rs9315906 AKAP11 Synonymous SNV L1461L 0.164 0.148 0.143 61 192 57 0.156 42 16 3 5 4 0.005 15845 chr15 78466127 78466127 T C rs2304824 ACSBG1 Nonsynonymous SNV M629V 0.501 0.516 0.534 187 588 198 0.479 157 144 50 42 36 0.154 15846 chr13 42882620 42882620 C T rs17521586 AKAP11 Synonymous SNV T1716T 0.146 0.138 0.143 55 171 53 0.141 42 16 3 5 4 11 15847 chr3 137807259 137807259 G A rs2724693 DZIP1L Nonsynonymous SNV R321W 0.69 0.695 0.643 269 810 267 0.69 189 279 94 70 86 23 15848 chr3 120500093 120500093 C T rs3732401 GTF2E1 Nonsynonymous SNV P366S 0.019 0.023 0.017 13 22 9 0.033 5 1 0 0 0 24.2 15849 chr15 78632830 78632830 C G rs1127472 CRABP1 Synonymous SNV L20L 0.598 0.581 0.561 218 702 223 0.559 165 214 67 46 63 14.75 15850 chr3 137849815 137849815 G A rs145157166 A4GNT Nonsynonymous SNV P95L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.003 15851 chr15 78758677 78758677 G C rs2958720 IREB2 Nonsynonymous SNV V102L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19.9 15852 chr13 43566159 43566159 G A EPSTI1 Nonsynonymous SNV P48L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 15853 chr15 78780104 78780104 T C rs2230940 IREB2 Nonsynonymous SNV I330T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.94 15854 chr3 138033181 138033181 C T rs9289556 NME9 Synonymous SNV E88E 0.652 0.654 0.605 242 766 251 0.621 178 245 80 67 76 Benign 8.873 15855 chr15 78789488 78789488 C T rs13180 IREB2 Synonymous SNV A622A 0.578 0.555 0.609 197 678 213 0.505 179 220 64 57 50 17.87 15856 chr3 138244400 138244400 C T rs9878436 CEP70 Synonymous SNV T140T 0.336 0.352 0.49 151 394 135 0.387 144 136 42 37 52 18.65 15857 chr15 78825562 78825562 C T rs12906951 HYKK Synonymous SNV H224H 0.283 0.276 0.323 99 332 106 0.254 95 45 16 14 16 12.62 15858 chr15 78909452 78909452 T C rs3743075 CHRNA3 Synonymous SNV K97K 0.761 0.781 0.704 293 894 300 0.751 207 336 120 75 110 6.271 15859 chr3 138664707 138664707 A C rs370950963 FOXL2 Synonymous SNV P286P 0.021 0.026 0.007 6 25 10 0.015 2 0 0 0 0 0.002 15860 chr15 78913068 78913070 CAG - rs143833222 CHRNA3 L23del 0.546 0.531 0.595 223 641 204 0.572 175 277 90 67 98 15861 chr3 140167536 140167536 A G rs2081803 CLSTN2 Synonymous SNV Q321Q 0.898 0.906 0.888 338 1054 348 0.867 261 474 158 116 147 1.826 15862 chr14 104028270 104028270 T C rs7148456 BAG5 Synonymous SNV P25P 0.248 0.255 0.218 94 291 98 0.241 64 37 11 5 14 0.662 15863 chr14 105059911 105059911 C T TMEM179 Nonsynonymous SNV D203N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.18 15864 chr15 78917399 78917399 A G rs1948 CHRNB4 Synonymous SNV A198A 0.768 0.784 0.721 305 902 301 0.782 212 342 120 79 121 1.048 15865 chr3 140178485 140178485 G A rs7632885 CLSTN2 Nonsynonymous SNV V366I 0.555 0.594 0.592 188 651 228 0.482 174 170 71 50 41 7.315 15866 chr15 79217690 79217690 G C rs2044226 CTSH Synonymous SNV T264T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.68 15867 chr3 121340536 121340536 T C rs4676684 FBXO40 Nonsynonymous SNV V87A 0.239 0.237 0.276 84 280 91 0.215 81 36 10 9 5 4.663 15868 chr15 79237293 79237293 C T rs2289702 CTSH Nonsynonymous SNV G11R 0.104 0.083 0.082 44 122 32 0.113 24 6 0 2 3 23.6 15869 chr14 105688082 105688082 C T rs28406206 BRF1 Synonymous SNV P168P 0.1 0.13 0.051 31 117 50 0.079 15 13 2 1 1 10.69 15870 chr14 104029449 104029449 G A rs2274267 COA8 Synonymous SNV T37T 0.25 0.258 0.197 95 294 99 0.244 58 37 11 4 14 Benign 11.78 15871 chr3 140281723 140281723 C T rs11714465 CLSTN2 Synonymous SNV S761S 0.708 0.695 0.759 280 831 267 0.718 223 297 92 84 101 12.97 15872 chr15 79277247 79277247 A C rs4778750 LOC100129540 0 0 0.915 0 0 0 0 269 0 0 122 0 4.75 15873 chr3 140282861 140282861 C T rs10804675 CLSTN2 Synonymous SNV V847V 0.707 0.695 0.765 279 830 267 0.715 225 297 92 85 101 9.507 15874 chr13 50283819 50283819 T C rs17073322 KPNA3 Synonymous SNV A307A 0.047 0.049 0.041 10 55 19 0.026 12 2 2 1 0 8.762 15875 chr15 79277608 79277608 G A rs4778751 LOC100129540 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.787 15876 chr14 104040473 104040473 A G rs71417867 COA8 Synonymous SNV L117L 0.017 0.013 0.017 3 20 5 0.008 5 0 0 0 0 Benign 8.405 15877 chr3 140401693 140401693 A G rs698673 TRIM42 Nonsynonymous SNV K244R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 15878 chr15 79586361 79586361 T C rs8038778 ANKRD34C Synonymous SNV P245P 0.689 0.659 0.731 260 809 253 0.667 215 287 85 84 87 0.063 15879 chr3 121351315 121351315 - GGCTCAGGCTCA rs150627065 HCLS1 E338_N339insPEPE 0.345 0.273 0.276 130 405 105 0.333 81 66 16 10 24 15880 chr15 79606137 79606137 G A rs3825933 TMED3 Synonymous SNV V69V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.86 15881 chr15 79614418 79614418 A G rs906439 TMED3 Synonymous SNV A172A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.668 15882 chr3 140406947 140406947 G A rs28594654 TRIM42 Nonsynonymous SNV V475M 0.577 0.596 0.582 224 677 229 0.574 171 193 71 48 66 7.505 15883 chr15 79750127 79750127 A G rs2902954 MINAR1 Synonymous SNV G546G 0.353 0.367 0.381 154 415 141 0.395 112 74 25 20 29 0.505 15884 chr14 105180706 105180706 A G rs1128840 INF2 Synonymous SNV P1069P 0.294 0.326 0.078 130 345 125 0.333 23 39 21 7 24 Benign 0.128 15885 chr15 79750307 79750307 T C rs1004724 MINAR1 Synonymous SNV I606I 0.895 0.935 0.922 338 1051 359 0.867 271 471 168 124 147 0.002 15886 chr13 52667310 52667310 G A rs755907903 NEK5 Nonsynonymous SNV A363V 0.003 0 0 0 4 0 0 0 0 0 0 0 19.28 15887 chr3 121354583 121354583 G A rs3772126 HCLS1 Synonymous SNV A193A 0.34 0.258 0.276 128 399 99 0.328 81 66 12 10 23 15.88 15888 chr15 80191343 80191343 G A rs7257 ST20 0.487 0.503 0.469 185 572 193 0.474 138 134 51 32 38 17.29 15889 chr3 140407260 140407260 C A rs9876490 TRIM42 Nonsynonymous SNV A579E 0.577 0.596 0.585 224 677 229 0.574 172 193 71 48 66 10.19 15890 chr3 121414061 121414061 C T rs1127412 GOLGB1 Nonsynonymous SNV G1690D 0.342 0.26 0.286 129 401 100 0.331 84 67 13 10 24 0.001 15891 chr15 80215597 80215597 G T rs2303824 ST20-AS1 0 0 0.184 0 0 0 0 54 0 0 7 0 7.397 15892 chr3 141011630 141011630 C T rs3210458 PXYLP1 Synonymous SNV F342F 0.122 0.099 0.085 57 143 38 0.146 25 9 2 1 6 12.01 15893 chr3 121415720 121415720 T C rs3732410 GOLGB1 Nonsynonymous SNV Y1137C 0.34 0.258 0.276 128 399 99 0.328 81 67 12 10 23 20.3 15894 chr15 80216015 80216015 C A rs3803540 ST20, ST20-AS1 0 0 0.19 0 0 0 0 56 0 0 8 0 14.21 15895 chr3 141724328 141724328 T C rs7627056 TFDP2 Synonymous SNV L47L 0.03 0.034 0.051 19 35 13 0.049 15 0 0 0 1 5.172 15896 chr15 80260014 80260014 T C rs8026803 BCL2A1 Synonymous SNV T147T 0.228 0.201 0.279 105 268 77 0.269 82 29 10 13 14 2.434 15897 chr3 142168331 142168331 C T rs1802904 ATR Synonymous SNV Q2561Q 0.849 0.826 0.864 317 997 317 0.813 254 428 130 110 128 Benign/Likely benign 12.73 15898 chr3 121416623 121416623 G C rs3732407 GOLGB1 Nonsynonymous SNV T836S 0.33 0.253 0.259 126 388 97 0.323 76 66 11 9 22 0.787 15899 chr15 80263217 80263217 C T rs3826007 BCL2A1 Nonsynonymous SNV G82D 0.222 0.195 0.259 100 261 75 0.256 76 25 10 12 14 26.4 15900 chr3 142217537 142217537 A G rs2227932 ATR Synonymous SNV Y1756Y 0.089 0.073 0.068 37 105 28 0.095 20 7 1 0 3 Benign/Likely benign 1.912 15901 chr14 20470737 20470737 G A rs12587697 OR4Q2 Nonsynonymous SNV R139Q 0.204 0.195 0.184 94 240 75 0.241 54 21 6 4 8 15.92 15902 chr3 143214230 143214230 G A rs988349435 SLC9A9 Synonymous SNV L384L 0 0 0 0 0 0 0 0 0 0 0 0 9.094 15903 chr15 80263345 80263345 A C rs1138358 BCL2A1 Nonsynonymous SNV N39K 0.236 0.208 0.286 107 277 80 0.274 84 32 10 13 14 0.001 15904 chr14 20470853 20470853 T - rs34315947 OR4Q2 0.341 0.359 0.34 128 400 138 0.328 100 75 26 17 19 15905 chr3 143293012 143293012 A G rs6763202 SLC9A9 Synonymous SNV C306C 0.321 0.315 0.289 126 377 121 0.323 85 55 16 13 15 Benign 0.181 15906 chr3 147121751 147121751 C T rs6766244 ZIC4 Synonymous SNV K45K 0.21 0.164 0.313 71 247 63 0.182 92 28 7 12 8 Benign 17.94 15907 chr15 80263406 80263406 C T rs1138357 BCL2A1 Nonsynonymous SNV C19Y 0.224 0.198 0.269 100 263 76 0.256 79 26 10 12 14 0.044 15908 chr3 148597612 148597612 C T rs12489516 CPA3 Nonsynonymous SNV T171M 0.966 0.966 0.956 375 1134 371 0.962 281 549 180 134 180 21.4 15909 chr15 80987812 80987812 T C rs62007944 ABHD17C Synonymous SNV G14G 0.998 1 0.969 389 1172 384 0.997 285 586 192 142 194 4.555 15910 chr3 121500699 121500699 C T rs17849995 IQCB1 Nonsynonymous SNV C301Y 0.249 0.253 0.269 91 292 97 0.233 79 44 15 8 8 Benign 22 15911 chr13 53624889 53624889 T A rs34185719 OLFM4 Nonsynonymous SNV L506M 0.025 0.003 0 2 29 1 0.005 0 0 0 0 0 7.026 15912 chr15 81212608 81212608 G A rs1553647 CEMIP Synonymous SNV P657P 0.998 0.992 0.997 389 1172 381 0.997 293 585 189 146 194 14.05 15913 chr3 148786108 148786108 C T rs812249 HLTF Synonymous SNV T303T 0.75 0.763 0.741 298 880 293 0.764 218 341 116 78 113 17.57 15914 chr15 81578139 81578139 C T rs4072111 IL16 Nonsynonymous SNV P434S 0.098 0.073 0.088 29 115 28 0.074 26 7 1 2 1 23.2 15915 chr3 148872987 148872987 G A rs6440589 HPS3 Synonymous SNV Q333Q 0.368 0.346 0.432 133 432 133 0.341 127 93 26 25 22 Benign 0.343 15916 chr15 81582868 81582868 G A rs8031107 IL16 Synonymous SNV Q469Q 0.518 0.51 0.48 201 608 196 0.515 141 170 47 37 53 7.167 15917 chr3 148916235 148916235 T A rs701753 CP Nonsynonymous SNV E544D 0.933 0.924 0.929 364 1095 355 0.933 273 512 166 128 171 Benign 5.75 15918 chr14 105350235 105350235 T C rs2582555 CEP170B Synonymous SNV A303A 0.081 0.076 0.099 41 95 29 0.105 29 4 3 3 2 0.007 15919 chr15 81584925 81584925 C T rs61752774 IL16 Synonymous SNV H483H 0.094 0.076 0.088 28 110 29 0.072 26 7 1 2 1 9.601 15920 chr15 81600995 81600995 A G rs4238526 IL16 Synonymous SNV L584L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.123 15921 chr3 149093238 149093238 A G rs4771 TM4SF1 Synonymous SNV T135T 0.833 0.805 0.806 335 978 309 0.859 237 407 124 98 142 8.386 15922 chr3 121838319 121838319 G A rs1129055 CD86 Nonsynonymous SNV A198T 0.25 0.271 0.201 101 293 104 0.259 59 34 12 6 8 12.12 15923 chr15 81624768 81624768 C T rs4417518 TMC3 Nonsynonymous SNV D1099N 0.859 0.867 0.891 336 1009 333 0.862 262 434 142 118 142 6.488 15924 chr14 20528449 20528467 CATAGATTTGCTCACTGAC - rs112192573 OR4L1 I83Tfs*10 0.407 0.411 0.371 161 478 158 0.413 109 103 30 20 37 15925 chr3 149192676 149192676 G A rs12488126 TM4SF4 Synonymous SNV G4G 0.462 0.458 0.446 179 542 176 0.459 131 116 39 30 40 3.835 15926 chr3 149459341 149459341 A G rs7633238 COMMD2 Synonymous SNV N189N 0.733 0.716 0.701 288 860 275 0.738 206 321 93 72 109 8.139 15927 chr15 81625385 81625385 C T rs11636318 TMC3 Nonsynonymous SNV C893Y 0.712 0.747 0.741 280 836 287 0.718 218 292 106 84 100 0.683 15928 chr14 105352390 105352390 C T rs373531826 CEP170B Nonsynonymous SNV P583L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 15929 chr3 122003769 122003769 A G rs1042636 CASR Nonsynonymous SNV R990G 0.044 0.042 0.044 12 52 16 0.031 13 1 0 0 1 Benign 18.42 15930 chr3 149468530 149468530 T G rs9843784 COMMD2 Nonsynonymous SNV I113L 0.45 0.411 0.469 160 528 158 0.41 138 139 42 37 38 17.35 15931 chr15 81636267 81636267 C T rs7161991 TMC3 Synonymous SNV E546E 0.858 0.87 0.895 336 1007 334 0.862 263 433 142 119 142 11.75 15932 chr14 105352885 105352890 GCAGGA - rs150426191 CEP170B R701_S702del 0.073 0.068 0.071 30 86 26 0.077 21 3 1 1 1 15933 chr15 81637284 81637284 G A rs4278705 TMC3 Synonymous SNV A447A 0.708 0.747 0.752 279 831 287 0.715 221 290 106 86 99 0.909 15934 chr3 149479301 149479301 C T rs954714 ANKUB1 Synonymous SNV A535A 0.569 0.534 0.558 217 668 205 0.556 164 192 57 48 61 13.89 15935 chr13 73317740 73317740 - GTGA rs10648315 BORA Frameshift insertion A101Gfs*15 0.015 0.008 0.017 4 18 3 0.01 5 0 0 0 0 15936 chr15 81665021 81665021 T A rs76902501 TMC3 Nonsynonymous SNV Q49H 0.029 0.026 0.034 12 34 10 0.031 10 1 0 0 0 22.5 15937 chr3 149485293 149485293 T C rs7610425 ANKUB1 Nonsynonymous SNV S386G 0.463 0.414 0.463 168 543 159 0.431 136 134 33 32 35 0.03 15938 chr15 82384094 82384094 C G rs7496044 LINC01583 0 0 0.037 0 0 0 0 11 0 0 0 0 0.006 15939 chr13 73349359 73349359 G C rs7332388 DIS3 Nonsynonymous SNV T203R 0.457 0.466 0.507 174 537 179 0.446 149 118 46 36 34 9.085 15940 chr15 82387951 82387951 G C rs1969090 LINC01583 0 0 0.588 0 0 0 0 173 0 0 51 0 0.402 15941 chr3 149488442 149488442 A G rs7630153 ANKUB1 Synonymous SNV D157D 0.31 0.271 0.33 120 364 104 0.308 97 48 14 15 19 3.028 15942 chr14 103566904 103566904 G A rs1057640 EXOC3L4 Synonymous SNV Q116Q 0.094 0.107 0.187 33 110 41 0.085 55 4 1 7 1 1.471 15943 chr15 82443939 82443939 G A rs4725 EFL1 Synonymous SNV D901D 0.328 0.31 0.354 112 385 119 0.287 104 62 17 20 14 4.048 15944 chr14 105207040 105207040 C T rs12894569 ADSS1 Synonymous SNV S193S 0.093 0.104 0.105 37 109 40 0.095 31 9 4 1 4 14.24 15945 chr3 150128392 150128392 G A rs879634 TSC22D2 Nonsynonymous SNV A419T 0.34 0.331 0.32 134 399 127 0.344 94 71 24 16 22 12.01 15946 chr15 82444437 82444437 A G rs905450 EFL1 Synonymous SNV G735G 0.757 0.75 0.762 301 889 288 0.772 224 333 112 83 119 0.003 15947 chr15 82563991 82563991 C T rs16973457 SAXO2 Nonsynonymous SNV P34L 0.526 0.534 0.568 193 617 205 0.495 167 162 59 46 40 27.7 15948 chr3 150285520 150285520 T C rs2293151 EIF2A Synonymous SNV D111D 0.101 0.102 0.092 53 119 39 0.136 27 9 1 2 3 6.397 15949 chr14 20665538 20665538 C T rs148846869 OR11G2 Nonsynonymous SNV P15L 0.037 0.034 0.014 14 43 13 0.036 4 1 1 0 1 12.86 15950 chr15 83224696 83224696 C T rs1145171 CPEB1 Synonymous SNV P186P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 18.3 15951 chr3 150421419 150421419 G A rs17281287 ERICH6 Synonymous SNV D89D 0.459 0.482 0.395 165 539 185 0.423 116 124 44 23 33 5.1 15952 chr15 83395340 83395340 T C rs11633991 ACTG1P17 0 0 0.241 0 0 0 0 71 0 0 12 0 2.586 15953 chr14 20665627 20665627 A G rs45620333 OR11G2 Nonsynonymous SNV S45G 0.056 0.052 0.075 19 66 20 0.049 22 2 1 0 1 0.571 15954 chr3 150690566 150690566 T C rs3796240 CLRN1-AS1 0.514 0.521 0.527 194 603 200 0.497 155 173 56 48 49 Benign 5.836 15955 chr15 83428192 83428192 C T rs1108134 FSD2 Nonsynonymous SNV E675K 0.158 0.146 0.194 70 185 56 0.179 57 17 6 6 8 10.87 15956 chr14 105406797 105406797 C A rs139443923 AHNAK2 Synonymous SNV P4897P 0.014 0.018 0.017 4 17 7 0.01 5 0 0 0 0 10.89 15957 chr3 150881774 150881774 A C rs17290219 MED12L Nonsynonymous SNV Q401P 0.214 0.216 0.19 73 251 83 0.187 56 25 12 6 8 6.462 15958 chr14 105349472 105349472 C T rs12101026 CEP170B Synonymous SNV F156F 0.014 0.005 0.014 4 16 2 0.01 4 0 0 0 0 12.53 15959 chr14 20665640 20665640 G A rs140668031 OR11G2 Nonsynonymous SNV G49D 0.057 0.052 0.068 19 67 20 0.049 20 2 1 0 1 6.703 15960 chr15 83677270 83677270 - A rs534261421 C15orf40 Frameshift insertion L132Ffs*69 0.123 0.12 0.133 43 144 46 0.11 39 3 1 0 0 15961 chr3 150931564 150931564 G A rs202142868 P2RY14 Nonsynonymous SNV R181W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.2 15962 chr14 105352651 105352651 C T rs62641737 CEP170B Nonsynonymous SNV S622F 0.012 0.021 0.01 10 14 8 0.026 3 0 1 0 0 19.93 15963 chr15 83680287 83680287 A G rs4842860 C15orf40 Nonsynonymous SNV C25R 0.678 0.672 0.66 252 796 258 0.646 194 275 89 62 83 0.029 15964 chr3 122345870 122345870 C T rs17208928 PARP15 Synonymous SNV S242S 0.202 0.234 0.221 93 237 90 0.238 65 27 6 4 10 9.001 15965 chr3 151011969 151011969 G A rs1048408 GPR87 Synonymous SNV Y355Y 0.58 0.581 0.582 232 681 223 0.595 171 195 69 50 63 0.003 15966 chr3 122354037 122354037 A G rs1106346 PARP15 Synonymous SNV K278K 0.405 0.393 0.429 173 475 151 0.444 126 95 26 29 40 0.005 15967 chr15 83680329 83680329 G A rs17361375 C15orf40 Nonsynonymous SNV L11F 0.152 0.128 0.173 70 179 49 0.179 51 17 7 6 5 6.178 15968 chr3 151012497 151012497 T C rs2242353 GPR87 Synonymous SNV L179L 0.851 0.841 0.82 345 999 323 0.885 241 425 142 101 154 0.007 15969 chr3 122354716 122354716 C T rs61754895 PARP15 Synonymous SNV D299D 0.219 0.245 0.245 101 257 94 0.259 72 32 7 8 13 3.353 15970 chr15 83781598 83781598 C T rs80329914 TM6SF1 Synonymous SNV L48L 0.068 0.057 0.088 24 80 22 0.062 26 5 0 0 1 13.6 15971 chr3 151046308 151046308 G A rs1466684 P2RY13 Nonsynonymous SNV T179M 0.916 0.917 0.905 365 1075 352 0.936 266 493 162 122 171 1.356 15972 chr15 83781599 83781599 T G rs79470022 TM6SF1 Nonsynonymous SNV L48R 0.068 0.057 0.088 24 80 22 0.062 26 5 0 0 1 27.7 15973 chr3 151056598 151056598 A C rs6809699 P2RY12 Synonymous SNV G12G 0.91 0.906 0.908 364 1068 348 0.933 267 498 162 123 170 Benign 0.011 15974 chr15 84539619 84539619 C G rs4144691 ADAMTSL3 Nonsynonymous SNV L290V 0.819 0.794 0.793 308 962 305 0.79 233 397 121 93 121 0.001 15975 chr13 76445189 76445189 A G rs9600566 LMO7DN 0.338 0.31 0 137 397 119 0.351 0 91 26 0 26 0.806 15976 chr3 151056616 151056616 G A rs6785930 P2RY12 Synonymous SNV N6N 0.215 0.214 0.235 100 252 82 0.256 69 40 16 7 8 Benign 2.372 15977 chr3 151082923 151082923 T C rs1463725 MED12L Synonymous SNV N1003N 0.083 0.125 0.075 54 98 48 0.138 22 3 3 1 5 4.71 15978 chr15 84611367 84611367 G C rs34047645 ADAMTSL3 Nonsynonymous SNV G713R 0.159 0.146 0.15 77 187 56 0.197 44 12 3 3 12 14.58 15979 chr13 77531361 77531361 C T rs41287034 ACOD1 Synonymous SNV L229L 0.066 0.076 0.048 15 78 29 0.038 14 3 1 1 0 11.4 15980 chr3 151131077 151131077 C T rs2276763 MED12L Synonymous SNV L2062L 0.074 0.102 0.048 37 87 39 0.095 14 3 1 0 3 17.18 15981 chr13 42404710 42404710 C T rs41288297 VWA8 Nonsynonymous SNV R552H 0.066 0.055 0.041 21 77 21 0.054 12 2 1 1 0 20.7 15982 chr15 84639350 84639350 C T rs2277849 ADAMTSL3 Nonsynonymous SNV L869F 0.216 0.211 0.235 112 253 81 0.287 69 23 9 7 22 23.4 15983 chr3 151154666 151154666 T C rs2172250 IGSF10 Synonymous SNV T588T 0.92 0.909 0.888 351 1080 349 0.9 261 499 158 114 158 0.006 15984 chr3 151155620 151155620 G A rs6781302 IGSF10 Synonymous SNV N270N 0.832 0.828 0.82 316 977 318 0.81 241 410 133 98 130 0.411 15985 chr15 84651290 84651290 T C rs7176737 ADAMTSL3 Synonymous SNV H970H 0.731 0.76 0.803 296 858 292 0.759 236 317 112 92 114 0.725 15986 chr15 85149771 85149771 G T rs2271433 ZSCAN2 Nonsynonymous SNV V140F 0.839 0.849 0.881 340 985 326 0.872 259 412 136 114 149 2.539 15987 chr3 151165678 151165678 T C rs9871952 IGSF10 Synonymous SNV Q697Q 0.859 0.849 0.833 332 1009 326 0.851 245 435 138 101 144 0.003 15988 chr3 151166422 151166422 C T rs6798252 IGSF10 Synonymous SNV Q449Q 0.783 0.766 0.731 301 919 294 0.772 215 358 112 75 116 7.665 15989 chr15 85163998 85163998 G C rs2044502 ZSCAN2 Nonsynonymous SNV S191T 0.796 0.81 0.861 324 935 311 0.831 253 370 123 109 137 0.001 15990 chr3 151171439 151171439 A C rs7619322 IGSF10 Nonsynonymous SNV Y150D 0.784 0.771 0.728 306 920 296 0.785 214 359 115 75 121 23.1 15991 chr13 50204880 50204880 G A rs3803186 ARL11 Synonymous SNV S99S 0.027 0.018 0.02 4 32 7 0.01 6 0 0 0 0 5.513 15992 chr15 85175102 85175102 G A rs2121452 SCAND2P 0 0 0.861 0 0 0 0 253 0 0 109 0 6.246 15993 chr15 85177208 85177208 G A rs698620 SCAND2P 0 0 0.184 0 0 0 0 54 0 0 22 0 7.956 15994 chr14 105420215 105420215 T C rs2278607 AHNAK2 Nonsynonymous SNV T425A 0.092 0.096 0.044 39 108 37 0.1 13 4 3 1 2 0.001 15995 chr3 151171542 151171542 A G rs7621591 IGSF10 Synonymous SNV N115N 0.862 0.857 0.84 331 1012 329 0.849 247 439 140 103 143 3.337 15996 chr15 85186877 85186894 CTTGGCTCCGTGTTCCAT - rs11267906 WDR73 D315_Q320del 0.215 0.195 0.153 66 252 75 0.169 45 29 4 4 8 15997 chr15 85188994 85188994 T C rs2271432 WDR73 Synonymous SNV S197S 0.81 0.823 0.864 331 951 316 0.849 254 385 127 110 142 Benign 0.009 15998 chr3 151463421 151463421 G T rs1972977 AADACL2 Nonsynonymous SNV A186S 0.712 0.669 0.745 292 836 257 0.749 219 293 88 82 107 0.001 15999 chr15 85333953 85333953 A G rs2241645 ZNF592 Synonymous SNV Q746Q 0.704 0.695 0.745 296 827 267 0.759 219 295 89 81 116 Benign/Likely benign 1.727 16000 chr15 85341859 85341859 G A rs8182086 ZNF592 Nonsynonymous SNV S926N 0.161 0.167 0.167 80 189 64 0.205 49 20 3 4 5 Benign/Likely benign 24.4 16001 chr3 151545601 151545601 G A rs1803155 AADAC Nonsynonymous SNV V281I 0.823 0.841 0.83 323 966 323 0.828 244 393 138 99 136 23.7 16002 chr3 123512627 123512627 G T rs28497577 MYLK Nonsynonymous SNV P21H 0.095 0.091 0.092 41 111 35 0.105 27 4 1 1 2 Benign/Likely benign 15.46 16003 chr13 78188078 78188078 A G rs8002725 SCEL Nonsynonymous SNV K438R 0.112 0.12 0.143 50 131 46 0.128 42 9 5 2 2 11.35 16004 chr15 85360101 85360101 T C rs11857356 ALPK3 Synonymous SNV Y8Y 0 0 0.823 0 0 0 0 242 0 0 99 0 Benign 0.002 16005 chr3 153839866 153839866 G C rs12493885 ARHGEF26 Nonsynonymous SNV V29L 0.905 0.93 0.949 352 1063 357 0.903 279 479 166 132 157 9.003 16006 chr15 85383839 85383839 G A rs3803406 ALPK3 Synonymous SNV G443G 0.595 0.599 0.653 237 698 230 0.608 192 210 62 63 75 Benign 0.86 16007 chr15 85401259 85401259 C T rs306197 ALPK3 Nonsynonymous SNV P1097L 0.693 0.69 0.762 301 814 265 0.772 224 313 97 86 121 Benign 5.651 16008 chr3 153839959 153839959 C T rs59508481 ARHGEF26 Nonsynonymous SNV L60F 0.774 0.789 0.82 293 909 303 0.751 241 352 118 98 108 8.45 16009 chr14 104618742 104618742 C G rs45472297 KIF26A Nonsynonymous SNV L227V 0.018 0.016 0.003 5 21 6 0.013 1 0 0 0 0 25.4 16010 chr15 85401419 85401419 T C rs167379 ALPK3 Synonymous SNV G1150G 0.775 0.734 0.84 324 910 282 0.831 247 382 112 104 142 Benign 0.016 16011 chr15 85447431 85447431 G A rs2290272 SLC28A1 Nonsynonymous SNV V189I 0.318 0.336 0.354 120 373 129 0.308 104 69 23 22 15 0.001 16012 chr3 153839960 153839960 T C rs12497267 ARHGEF26 Nonsynonymous SNV L60P 0.905 0.93 0.949 351 1062 357 0.9 279 478 166 132 156 2.669 16013 chr14 105722726 105722726 T C rs1008628 BRF1 Synonymous SNV P200P 0.271 0.271 0.194 105 318 104 0.269 57 42 11 2 9 0.881 16014 chr13 79176484 79176486 TGG - rs762014663 POU4F1 H108del 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16015 chr3 153840162 153840162 C T rs13073165 ARHGEF26 Synonymous SNV S127S 0.124 0.141 0.119 57 146 54 0.146 35 11 5 2 2 15.65 16016 chr15 85448875 85448875 C A rs8187758 SLC28A1 Nonsynonymous SNV Q237K 0.21 0.211 0.184 79 246 81 0.203 54 30 12 4 6 24.5 16017 chr3 124048764 124048764 C T rs2276740 KALRN Synonymous SNV S445S 0.095 0.094 0.099 38 112 36 0.097 29 7 2 1 0 13.96 16018 chr3 153840389 153840389 T C rs13096373 ARHGEF26 Nonsynonymous SNV F203S 0.131 0.143 0.129 58 154 55 0.149 38 11 5 2 3 3.858 16019 chr14 20859205 20859205 C T rs872074 TEP1 Synonymous SNV A608A 0.2 0.201 0.17 76 235 77 0.195 50 25 11 2 5 10.47 16020 chr13 96329587 96329587 C T rs146543814 DNAJC3 Synonymous SNV Y26Y 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 15.66 16021 chr15 85476441 85476441 G A rs2305367 SLC28A1 Synonymous SNV K383K 0.279 0.263 0.276 104 327 101 0.267 81 43 12 15 17 13.52 16022 chr13 96601679 96601679 C T rs35405829 UGGT2 Synonymous SNV L455L 0.028 0.042 0.024 12 33 16 0.031 7 0 0 0 0 7.132 16023 chr3 153943770 153943770 C G rs74965475 ARHGEF26 Nonsynonymous SNV N687K 0.046 0.07 0.041 15 54 27 0.038 12 0 0 1 0 24.6 16024 chr14 20470903 20470903 T C rs12586792 OR4Q2 Nonsynonymous SNV F194S 0.139 0.154 0.156 63 163 59 0.162 46 8 4 1 5 0.107 16025 chr15 85478410 85478410 A G rs2242048 SLC28A1 Synonymous SNV Q456Q 0.863 0.888 0.857 328 1013 341 0.841 252 438 150 108 139 0.008 16026 chr13 96624836 96624836 A G rs35923904 UGGT2 Synonymous SNV F394F 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 12.09 16027 chr15 85478729 85478729 G A rs2242046 SLC28A1 Nonsynonymous SNV D521N 0.566 0.612 0.551 219 665 235 0.562 162 185 69 45 57 8.282 16028 chr3 155241740 155241740 A G rs9840234 PLCH1 Synonymous SNV S460S 0.71 0.677 0.711 276 833 260 0.708 209 306 88 76 98 8.462 16029 chr14 105996050 105996052 GCC - rs10569304 TMEM121 P299del 0.292 0.31 0.347 96 343 119 0.246 102 46 18 20 12 16030 chr3 155301264 155301264 T C rs9289957 PLCH1 Synonymous SNV Q244Q 0.043 0.063 0.037 20 51 24 0.051 11 1 1 0 1 0.25 16031 chr15 85610349 85610349 C T rs35666574 PDE8A Synonymous SNV V44V 0.021 0.029 0.051 6 25 11 0.015 15 2 1 0 0 16.09 16032 chr15 86122654 86122654 T C rs2061821 AKAP13 Nonsynonymous SNV M452T 0.715 0.669 0.673 295 839 257 0.756 198 303 84 65 118 4.538 16033 chr3 155314034 155314034 A G rs359569 PLCH1 Synonymous SNV S59S 0.747 0.779 0.755 289 877 299 0.741 222 324 115 83 105 5.857 16034 chr3 124482495 124482503 TTGTTGAAC - rs150512726 ITGB5 F637_K639del 0.086 0.078 0.116 26 101 30 0.067 34 7 2 1 0 16035 chr14 20528250 20528250 G T rs45584133 OR4L1 Nonsynonymous SNV G16V 0.026 0.029 0.024 14 30 11 0.036 7 1 1 1 0 24.6 16036 chr3 155481609 155481609 G A rs7653384 C3orf33 Synonymous SNV Y194Y 0.685 0.711 0.643 257 804 273 0.659 189 274 101 61 87 3.269 16037 chr13 95230305 95230305 T C TGDS Nonsynonymous SNV N228S 0.004 0 0 0 5 0 0 0 0 0 0 0 9.659 16038 chr15 86122779 86122779 T C rs2061822 AKAP13 Nonsynonymous SNV W494R 0.737 0.703 0.711 301 865 270 0.772 209 321 94 73 124 1.546 16039 chr3 124578212 124578212 C G rs112151655 ITGB5 Nonsynonymous SNV E80Q 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 29 16040 chr14 20898442 20898442 C T rs11160645 KLHL33 Synonymous SNV Q131Q 0.118 0.094 0.133 50 138 36 0.128 39 7 3 3 4 3.347 16041 chr3 155485302 155485302 C T rs358733 C3orf33 Nonsynonymous SNV S160N 0.813 0.831 0.789 314 955 319 0.805 232 385 135 97 125 10.35 16042 chr15 86122916 86122916 T C rs2061823 AKAP13 Synonymous SNV A539A 0.715 0.669 0.673 295 839 257 0.756 198 303 84 65 118 5.063 16043 chr15 86123019 86123019 C T rs2061824 AKAP13 Nonsynonymous SNV R574C 0.715 0.669 0.673 294 839 257 0.754 198 303 84 65 117 9.844 16044 chr3 156249214 156249214 T C rs2280031 KCNAB1 Synonymous SNV N337N 0.261 0.271 0.221 96 306 104 0.246 65 42 10 11 9 7.616 16045 chr15 86123364 86123364 G A rs7177107 AKAP13 Nonsynonymous SNV E689K 0.174 0.182 0.16 96 204 70 0.246 47 21 7 2 12 13.58 16046 chr3 156570703 156570703 A G rs414683 LEKR1 Synonymous SNV Q65Q 0.223 0.193 0.211 76 262 74 0.195 62 25 7 4 9 0.09 16047 chr13 46124380 46124380 C T rs149506203 ERICH6B Synonymous SNV G493G 0.048 0.029 0.024 6 56 11 0.015 7 0 0 1 0 16.39 16048 chr3 156983414 156983414 T C rs7652298 VEPH1 Synonymous SNV K677K 0.266 0.328 0.265 112 312 126 0.287 78 40 21 10 18 9.573 16049 chr15 86123833 86123833 T C rs4075256 AKAP13 Nonsynonymous SNV V845A 0.708 0.659 0.66 290 831 253 0.744 194 297 81 64 116 0.009 16050 chr14 20502149 20502149 T C rs201040612 OR4K13 Nonsynonymous SNV I257V 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 0.09 16051 chr14 20928359 20928359 C A rs35567022 PIP4P1 Synonymous SNV R151R 0.036 0.031 0.02 10 42 12 0.026 6 0 0 0 0 11.75 16052 chr3 157081324 157081324 A G rs11918974 VEPH1 Nonsynonymous SNV S522P 0.286 0.339 0.293 111 336 130 0.285 86 51 24 15 17 11.78 16053 chr15 86123924 86123924 C T rs4075255 AKAP13 Synonymous SNV P875P 0.715 0.669 0.673 294 839 257 0.754 198 303 84 65 117 12.28 16054 chr14 20940515 20940515 C T rs1049562 PNP Synonymous SNV H20H 0.198 0.172 0.177 59 233 66 0.151 52 20 5 4 2 Benign 9.95 16055 chr15 86123988 86123988 G A rs4075254 AKAP13 Nonsynonymous SNV V897M 0.714 0.669 0.673 294 838 257 0.754 198 302 84 65 117 7.572 16056 chr13 95735484 95735484 T C rs139970608 ABCC4 Nonsynonymous SNV I819V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 9.948 16057 chr14 20940606 20940606 G A rs1049564 PNP Nonsynonymous SNV G51S 0.202 0.174 0.194 61 237 67 0.156 57 21 6 7 2 Benign 16.6 16058 chr3 157154768 157154768 T C rs35948036 PTX3 Synonymous SNV L16L 0.009 0 0 3 11 0 0.008 0 0 0 0 0 Benign 7.66 16059 chr15 86124419 86124419 C T rs4843073 AKAP13 Synonymous SNV S1040S 0.715 0.669 0.673 295 839 257 0.756 198 303 84 65 118 12.73 16060 chr3 157155314 157155314 C A rs3816527 PTX3 Nonsynonymous SNV A48D 0.597 0.607 0.599 207 701 233 0.531 176 215 66 54 59 12.69 16061 chr14 20940626 20940626 C T rs1130650 PNP Synonymous SNV P57P 0.201 0.174 0.194 61 236 67 0.156 57 21 6 7 2 Benign 14.58 16062 chr13 46543185 46543185 A G rs148627174 ZC3H13 Nonsynonymous SNV V1165A 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 0.003 16063 chr15 86124483 86124483 C G rs4843074 AKAP13 Nonsynonymous SNV P1062A 0.715 0.669 0.673 295 839 257 0.756 198 303 84 65 118 8.302 16064 chr3 158320597 158320597 T C rs4875 MLF1 Synonymous SNV S145S 0.526 0.552 0.537 226 618 212 0.579 158 169 66 42 62 4.626 16065 chr15 86124555 86124555 G A rs4843075 AKAP13 Nonsynonymous SNV D1086N 0.715 0.669 0.673 295 839 257 0.756 198 303 84 65 118 0.072 16066 chr3 158320703 158320703 C A rs15967 MLF1 Nonsynonymous SNV P181T 0.39 0.422 0.337 172 458 162 0.441 99 102 41 12 40 2.178 16067 chr14 20528682 20528682 T C rs45585336 OR4L1 Nonsynonymous SNV I160T 0.026 0.029 0.031 13 30 11 0.033 9 1 1 1 0 10.18 16068 chr15 86124946 86124946 T C rs7162168 AKAP13 Nonsynonymous SNV M1216T 0.714 0.672 0.673 295 838 258 0.756 198 302 84 65 118 0.001 16069 chr13 95863008 95863008 C A rs11568658 ABCC4 Nonsynonymous SNV G112W 0.04 0.039 0.031 16 47 15 0.041 9 2 0 0 0 33 16070 chr3 158362441 158362441 T C rs1864507 GFM1 Synonymous SNV A6A 0.526 0.555 0.534 226 618 213 0.579 157 168 66 41 62 Benign 1.204 16071 chr13 46638826 46638826 G A rs2277440 CPB2 Synonymous SNV I214I 0.065 0.063 0.085 34 76 24 0.087 25 4 0 1 2 11.6 16072 chr14 21026773 21026773 C T rs891297 RNASE9 0.158 0.211 0.194 50 185 81 0.128 57 14 7 8 4 4.792 16073 chr3 158366900 158366900 G A rs2303909 GFM1 Nonsynonymous SNV V26I 0.524 0.555 0.541 226 615 213 0.579 159 168 66 42 62 Benign 13.77 16074 chr15 86124968 86124968 G A rs11633087 AKAP13 Synonymous SNV R1223R 0.713 0.669 0.673 295 837 257 0.756 198 301 84 65 118 3.854 16075 chr15 86125031 86125031 G A rs7178065 AKAP13 Synonymous SNV G1244G 0.714 0.661 0.67 294 838 254 0.754 197 302 81 64 118 3.167 16076 chr3 158367837 158367837 C T rs56167308 GFM1 Nonsynonymous SNV R245C 0.236 0.242 0.194 99 277 93 0.254 57 38 17 5 14 7.564 16077 chr15 86125304 86125304 C T rs7179919 AKAP13 Synonymous SNV I1335I 0.113 0.128 0.136 37 133 49 0.095 40 6 0 2 3 13.59 16078 chr15 86284342 86284342 C T rs16943792 AKAP13 Synonymous SNV L1179L 0.145 0.143 0.163 46 170 55 0.118 48 12 1 3 6 4.67 16079 chr3 158388780 158388780 T C rs8455 LXN Nonsynonymous SNV H53R 0.522 0.555 0.52 226 613 213 0.579 153 167 66 42 62 5.05 16080 chr15 86311593 86311593 C A rs8041288 KLHL25 Synonymous SNV R483R 0.125 0.122 0.082 60 147 47 0.154 24 11 2 0 7 6.751 16081 chr15 86312294 86312294 C T rs35582838 KLHL25 Nonsynonymous SNV V250I 0.132 0.133 0.088 62 155 51 0.159 26 11 3 0 7 10.9 16082 chr3 158428642 158428642 G A rs2307064 RARRES1 Synonymous SNV T140T 0.226 0.247 0.201 87 265 95 0.223 59 31 18 5 10 10.53 16083 chr15 86368898 86368898 G A rs4414449 MIR548AP 0 0 0.565 0 0 0 0 166 0 0 58 0 0.466 16084 chr3 124802881 124802881 A G rs2981483 SLC12A8 Synonymous SNV P666P 0.448 0.435 0.48 189 526 167 0.485 141 114 38 34 47 8.044 16085 chr14 20691888 20691888 C A rs10140652 OR11H6 Nonsynonymous SNV S7Y 0.079 0.083 0.085 28 93 32 0.072 25 4 0 3 2 0.001 16086 chr15 86368959 86368959 A T rs4577031 MIR548AP 0 0 0.619 0 0 0 0 182 0 0 62 0 1.33 16087 chr3 158449965 158449965 T C rs6441223 RARRES1 Synonymous SNV L80L 0.464 0.443 0.194 183 545 170 0.469 57 148 50 22 49 4.751 16088 chr3 124802888 124802888 C T rs2981482 SLC12A8 Nonsynonymous SNV R664Q 0.448 0.435 0.48 189 526 167 0.485 141 114 38 34 47 15.09 16089 chr15 86800209 86800209 C T rs1353578 AGBL1 Synonymous SNV P287P 0.679 0.659 0.707 278 797 253 0.713 208 271 87 73 100 11.31 16090 chr3 158450178 158450178 A G rs6786423 RARRES1 Synonymous SNV P9P 0.298 0.328 0.408 134 350 126 0.344 120 93 35 29 31 8.282 16091 chr14 20691962 20691962 C G rs9323693 OR11H6 Nonsynonymous SNV L32V 0.079 0.083 0.088 28 93 32 0.072 26 4 0 3 2 23.3 16092 chr15 86806029 86806029 C T rs1566088 AGBL1 Synonymous SNV D330D 0.695 0.667 0.721 278 816 256 0.713 212 284 90 76 100 11.48 16093 chr3 158537443 158537443 A G rs3765083 MFSD1 Nonsynonymous SNV I181V 0.616 0.69 0.667 257 723 265 0.659 196 239 95 67 80 1.858 16094 chr15 86807761 86807761 A G rs10520618 AGBL1 Synonymous SNV E453E 0.512 0.503 0.537 211 601 193 0.541 158 150 54 43 51 0.314 16095 chr15 86814866 86814866 A G rs11858435 AGBL1 Synonymous SNV L668L 0.753 0.701 0.772 300 884 269 0.769 227 336 98 84 113 10.88 16096 chr13 77527764 77527764 T A rs17385627 ACOD1 Synonymous SNV V68V 0.103 0.102 0.095 30 121 39 0.077 28 2 1 1 2 9.334 16097 chr13 49775997 49775997 A G rs45604939 FNDC3A Nonsynonymous SNV T961A 0.073 0.089 0.065 25 86 34 0.064 19 5 2 1 1 22.9 16098 chr15 86940622 86940622 T C rs4362360 AGBL1 Synonymous SNV T800T 0.407 0.362 0.49 147 478 139 0.377 144 103 29 37 28 4.422 16099 chr3 158538056 158538056 T C rs4680469 MFSD1 Synonymous SNV L229L 0.296 0.344 0.279 112 347 132 0.287 82 49 25 12 17 9.928 16100 chr13 77531179 77531179 A G rs116855637 ACOD1 Nonsynonymous SNV S169G 0.008 0.023 0.027 19 9 9 0.049 8 0 0 0 0 24.3 16101 chr15 87217613 87217613 A G rs8028043 AGBL1 Nonsynonymous SNV Q1056R 0.934 0.932 0.973 363 1096 358 0.931 286 512 166 139 168 0.002 16102 chr3 161221705 161221705 A C rs3921595 OTOL1 Nonsynonymous SNV E470A 0.443 0.414 0.449 160 520 159 0.41 132 121 37 31 40 25.1 16103 chr15 87531281 87531281 A C rs1006030 AGBL1 Synonymous SNV T1095T 0.836 0.849 0.864 350 981 326 0.897 254 412 138 108 156 0.002 16104 chr13 77570078 77570078 T G rs34481987 CLN5 Synonymous SNV T127T 0.012 0.021 0.037 11 14 8 0.028 11 0 1 0 0 Benign/Likely benign 9.57 16105 chr3 164714532 164714532 C T rs4855271 SI Nonsynonymous SNV M1523I 0.904 0.938 0.898 364 1061 360 0.933 264 511 176 124 177 Benign 6.775 16106 chr14 20757804 20757804 C A rs3737220 TTC5 Synonymous SNV S435S 0.175 0.151 0.173 70 206 58 0.179 51 21 4 6 3 12.74 16107 chr15 88576185 88576185 G C rs2229910 NTRK3 Synonymous SNV A496A 0.425 0.409 0.422 162 499 157 0.415 124 101 32 21 28 4.091 16108 chr14 21500121 21500121 G T rs9624 TPPP2 Nonsynonymous SNV R133L 0.112 0.081 0.143 50 132 31 0.128 42 5 0 3 2 29.6 16109 chr13 77574983 77574983 A G rs1800209 CLN5 Nonsynonymous SNV K319R 0.107 0.112 0.112 56 126 43 0.144 33 8 5 2 1 Benign 4.857 16110 chr15 88679785 88679785 G A rs1863480 NTRK3 Synonymous SNV N226N 0.997 0.997 0.99 388 1171 383 0.995 291 584 191 144 193 11.98 16111 chr15 88680684 88680684 G A rs1128994 NTRK3 Synonymous SNV N191N 0.247 0.177 0.276 88 290 68 0.226 81 32 8 12 8 9.28 16112 chr3 164764719 164764719 C A rs9838509 SI Synonymous SNV A599A 0.695 0.711 0.612 274 816 273 0.703 180 283 105 58 93 Benign 20.9 16113 chr13 77632470 77632470 C T rs2285386 MYCBP2 Synonymous SNV E4404E 0.111 0.112 0.105 53 130 43 0.136 31 9 2 2 2 16.73 16114 chr15 89195178 89195178 G C rs6496516 ISG20 Synonymous SNV V11V 0.899 0.906 0.85 350 1055 348 0.897 250 473 158 110 155 0.646 16115 chr3 164773057 164773057 G A rs9290257 SI Synonymous SNV N479N 0.685 0.711 0.609 277 804 273 0.71 179 290 105 58 94 Benign 7.794 16116 chr15 89195264 89195264 A G rs7180509 ISG20 Nonsynonymous SNV D40G 0.055 0.044 0.041 15 64 17 0.038 12 2 1 1 0 10.4 16117 chr13 77672553 77672553 A C rs146009453 MYCBP2 Synonymous SNV P2912P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.133 16118 chr3 164783165 164783165 T C rs9283633 SI Nonsynonymous SNV T231A 0.693 0.719 0.592 272 813 276 0.697 174 291 105 58 94 Benign 4.361 16119 chr15 89195526 89195526 A G rs1137166 ISG20 Synonymous SNV L127L 0.897 0.906 0.881 351 1053 348 0.9 259 471 158 114 156 8.311 16120 chr14 20837033 20837033 T C rs2104978 TEP1 Nonsynonymous SNV H2454R 0.078 0.068 0.075 17 91 26 0.044 22 4 1 2 0 25.9 16121 chr13 77699596 77699596 T C rs34474844 MYCBP2 Nonsynonymous SNV N2631S 0.029 0.026 0.054 14 34 10 0.036 16 2 1 0 0 21.7 16122 chr15 89386652 89386652 G A rs34949187 ACAN Nonsynonymous SNV R275Q 0.189 0.172 0.143 67 222 66 0.172 42 18 10 3 6 Benign 25.6 16123 chr13 99457431 99457431 T G rs2296984 DOCK9 Synonymous SNV A1818A 0.212 0.253 0.218 96 249 97 0.246 64 31 10 5 12 0.424 16124 chr3 164908325 164908325 A G rs773688580 SLITRK3 Synonymous SNV L98L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 16125 chr14 21526079 21526079 C T rs12437266 RNASE8 Nonsynonymous SNV P10S 0.615 0.622 0.643 226 722 239 0.579 189 221 76 59 64 6.939 16126 chr14 20844383 20844383 C T rs2228042 TEP1 Synonymous SNV T1935T 0.094 0.083 0.088 21 110 32 0.054 26 4 2 3 0 11.73 16127 chr13 77718663 77718663 T C rs199501276 MYCBP2 Nonsynonymous SNV N2407S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 16128 chr3 167034814 167034814 T C rs13068132 ZBBX Synonymous SNV L391L 0.404 0.432 0.361 161 474 166 0.413 106 98 34 21 31 5.075 16129 chr15 89391160 89391160 C A rs2272023 ACAN Synonymous SNV P541P 0.768 0.742 0.765 305 902 285 0.782 225 346 107 82 115 16.59 16130 chr13 99462477 99462477 G A rs12859979 DOCK9 Synonymous SNV I1714I 0.09 0.089 0.095 39 106 34 0.1 28 6 0 0 1 17.73 16131 chr14 20845521 20845521 A C rs2229101 TEP1 Synonymous SNV L1894L 0.094 0.083 0.088 20 110 32 0.051 26 4 2 3 0 0.198 16132 chr3 167051769 167051769 T C rs11923054 ZBBX Nonsynonymous SNV K178R 0.4 0.432 0.347 160 470 166 0.41 102 98 35 20 31 9.399 16133 chr15 89392745 89392745 T C rs1568116 ACAN Synonymous SNV A603A 0.988 0.99 0.986 384 1160 380 0.985 290 573 188 143 189 Benign 5.775 16134 chr13 50123649 50123649 G A rs3751383 RCBTB1 Synonymous SNV D330D 0.133 0.141 0.163 39 156 54 0.1 48 13 3 5 5 10.93 16135 chr13 77732208 77732208 G A rs34982494 MYCBP2 Synonymous SNV L2212L 0.029 0.026 0.054 14 34 10 0.036 16 2 1 0 0 10.91 16136 chr14 20845770 20845770 T C rs34895824 TEP1 Nonsynonymous SNV K1847R 0.009 0.013 0.01 7 11 5 0.018 3 0 0 0 0 0.07 16137 chr13 99575568 99575568 G A rs12428661 DOCK9 Synonymous SNV V159V 0.19 0.18 0.184 79 223 69 0.203 54 22 3 2 7 14.3 16138 chr15 89398105 89398105 C T rs2351491 ACAN Synonymous SNV P763P 0.601 0.581 0.612 252 706 223 0.646 180 207 67 47 76 10.01 16139 chr14 101349536 101349536 G A rs373673512 RTL1 Synonymous SNV C530C 0.002 0 0 0 2 0 0 0 0 0 0 0 6.558 16140 chr13 50123688 50123688 G T rs3751382 RCBTB1 Synonymous SNV S317S 0.133 0.141 0.163 39 156 54 0.1 48 13 3 5 5 6.294 16141 chr15 89398330 89398330 G A rs3743399 ACAN Synonymous SNV S838S 0.825 0.818 0.85 325 969 314 0.833 250 401 129 104 133 10.81 16142 chr3 167068256 167068256 T A rs4619784 ZBBX Nonsynonymous SNV K160N 0.387 0.406 0.361 156 454 156 0.4 106 97 34 20 31 29.6 16143 chr15 89398605 89398605 G T rs938608 ACAN Nonsynonymous SNV S930I 0.605 0.586 0.626 253 710 225 0.649 184 209 68 49 77 18.18 16144 chr14 21551058 21551058 G A rs1958395 ARHGEF40 Synonymous SNV A471A 0.616 0.646 0.609 247 723 248 0.633 179 220 81 53 77 15.35 16145 chr14 20846950 20846950 C T rs8022805 TEP1 Nonsynonymous SNV R1664Q 0.083 0.076 0.075 17 98 29 0.044 22 3 2 3 0 24 16146 chr13 50134099 50134099 T C rs17073145 RCBTB1 Synonymous SNV V133V 0.131 0.138 0.163 38 154 53 0.097 48 13 3 5 5 7.413 16147 chr3 167077691 167077691 T A rs4257551 ZBBX Synonymous SNV V133V 0.993 0.987 0.997 388 1166 379 0.995 293 580 187 146 193 11.11 16148 chr15 89398631 89398631 T A rs938609 ACAN Nonsynonymous SNV S939T 0.601 0.581 0.619 252 705 223 0.646 182 206 67 47 76 16.1 16149 chr14 105615648 105615648 C T rs9972231 JAG2 Nonsynonymous SNV D500N 0.11 0.133 0.194 53 129 51 0.136 57 5 3 6 3 23.9 16150 chr13 50134150 50134150 A G rs17073150 RCBTB1 Synonymous SNV I116I 0.131 0.138 0.163 38 154 53 0.097 48 13 3 5 5 8.579 16151 chr14 20849169 20849169 G A rs2228039 TEP1 Synonymous SNV F1453F 0.079 0.078 0.088 18 93 30 0.046 26 3 2 3 0 1.491 16152 chr3 167507060 167507060 C T rs776746623 SERPINI1 Synonymous SNV F48F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.42 16153 chr14 21570273 21570273 T C rs745696 TMEM253 Synonymous SNV L90L 0.753 0.724 0.765 290 884 278 0.744 225 327 100 84 108 0.321 16154 chr3 169098992 169098992 G A rs7622799 MECOM Nonsynonymous SNV P120S 0.084 0.057 0.071 29 99 22 0.074 21 3 2 1 0 5.485 16155 chr15 89398825 89398825 C T rs4080952 ACAN Synonymous SNV T1003T 0.419 0.404 0.276 179 492 155 0.459 81 123 37 15 47 2.841 16156 chr14 21570614 21570614 A C rs4982408 TMEM253 Synonymous SNV I109I 0.833 0.802 0.833 322 978 308 0.826 245 402 121 101 133 0.026 16157 chr15 89400339 89400339 A C rs2882676 ACAN Nonsynonymous SNV E1508A 0.601 0.581 0.619 252 705 223 0.646 182 206 67 48 76 Benign 4.077 16158 chr3 169492101 169492101 C T rs10936599 MYNN Synonymous SNV H6H 0.21 0.266 0.276 100 247 102 0.256 81 26 14 13 13 association 11.71 16159 chr13 50141362 50141362 G A rs9562900 RCBTB1 Synonymous SNV I18I 0.131 0.138 0.163 38 154 53 0.097 48 13 3 5 5 11.04 16160 chr15 89401109 89401109 A G rs4932439 ACAN Nonsynonymous SNV I1765V 0.828 0.82 0.847 325 972 315 0.833 249 403 130 104 133 0.008 16161 chr3 169514585 169514585 A T rs10936600 LRRC34 Nonsynonymous SNV L254I 0.21 0.26 0.272 98 246 100 0.251 80 26 15 13 12 19.81 16162 chr14 21623303 21623303 G T rs45603634 OR5AU1 Synonymous SNV S243S 0.051 0.029 0.031 19 60 11 0.049 9 1 0 0 1 3.261 16163 chr15 89401615 89401615 T G rs3825994 ACAN Synonymous SNV T1933T 0.709 0.667 0.721 280 832 256 0.718 212 292 87 70 95 0.399 16164 chr14 105858022 105858022 C T rs147461490 PACS2 Nonsynonymous SNV P635L 0.054 0.049 0.058 17 63 19 0.044 17 1 1 0 0 27.7 16165 chr14 20852267 20852267 C T rs2228041 TEP1 Nonsynonymous SNV R1047Q 0.084 0.078 0.088 21 99 30 0.054 26 3 2 3 0 0.725 16166 chr14 21623489 21623489 C T rs45462402 OR5AU1 Synonymous SNV G181G 0.164 0.156 0.187 80 193 60 0.205 55 12 2 6 2 8.341 16167 chr15 89402051 89402051 A G rs1042630 ACAN Nonsynonymous SNV I2079V 0.716 0.672 0.735 281 841 258 0.721 216 300 89 74 96 0.001 16168 chr3 169518455 169518455 T C rs6793295 LRRC34 Nonsynonymous SNV S249G 0.242 0.307 0.238 113 284 118 0.29 70 34 23 15 14 0.807 16169 chr14 20898058 20898058 G C rs79604136 KLHL33 Synonymous SNV P259P 0.03 0.021 0.034 9 35 8 0.023 10 1 0 1 0 5.363 16170 chr3 128204951 128204951 C T rs2335052 GATA2 Nonsynonymous SNV A164T 0.215 0.224 0.156 83 252 86 0.213 46 23 10 6 5 Benign 13.22 16171 chr14 20852646 20852646 A C rs773275695 TEP1 Synonymous SNV G973G 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 0.005 16172 chr15 89402239 89402239 T C rs1042631 ACAN Synonymous SNV L2141L 0.766 0.74 0.806 300 899 284 0.769 237 342 108 93 113 0.001 16173 chr3 169540397 169540397 T C rs1920119 LRRIQ4 Synonymous SNV L230L 0.381 0.44 0.422 163 447 169 0.418 124 76 40 27 31 0.114 16174 chr13 92345579 92345579 C T rs553717 GPC5 Nonsynonymous SNV A155V 0.138 0.13 0.18 66 162 50 0.169 53 12 1 2 5 23.7 16175 chr15 89402596 89402596 T G rs698621 ACAN Synonymous SNV A2260A 0.6 0.581 0.605 243 704 223 0.623 178 210 67 46 72 9.773 16176 chr15 89417238 89417238 A G rs1126823 ACAN Nonsynonymous SNV Q2500R 0.293 0.31 0.293 109 344 119 0.279 86 54 19 14 19 11.06 16177 chr3 169558025 169558025 C T rs3732451 LRRC31 Synonymous SNV A412A 0.371 0.404 0.422 157 436 155 0.403 124 74 32 29 29 13.8 16178 chr13 52343391 52343391 C T rs10676 DHRS12 Nonsynonymous SNV G200R 0.048 0.044 0.071 21 56 17 0.054 21 0 0 0 1 6.684 16179 chr14 21770730 21770730 A G rs6571751 RPGRIP1 Nonsynonymous SNV K192E 0.483 0.484 0.51 196 567 186 0.503 150 134 41 41 50 Benign 0.022 16180 chr3 128344786 128344786 G A rs1126828 RPN1 Synonymous SNV D402D 0.209 0.227 0.248 96 245 87 0.246 73 26 14 9 9 10.73 16181 chr13 95034763 95034763 G A rs2274020 GPC6 Synonymous SNV T416T 0.065 0.096 0.065 25 76 37 0.064 19 2 3 1 0 Benign 14.95 16182 chr14 105954705 105954705 C T rs55633823 CRIP1 Nonsynonymous SNV A58V 0.213 0.208 0.238 69 250 80 0.177 70 26 10 7 4 17.23 16183 chr3 169644710 169644710 G C rs10513680 SAMD7 Nonsynonymous SNV E220D 0.179 0.141 0.17 66 210 54 0.169 50 19 4 8 8 16.18 16184 chr3 128350922 128350922 G A rs138936459 RPN1 Nonsynonymous SNV H238Y 0.014 0.008 0.003 8 16 3 0.021 1 0 0 0 0 29.5 16185 chr15 89421327 89421327 A G rs2280463 HAPLN3 Synonymous SNV G319G 0.353 0.352 0.374 130 414 135 0.333 110 76 22 22 29 17.4 16186 chr15 89421405 89421405 G A rs7182726 HAPLN3 Synonymous SNV I293I 0.266 0.271 0.224 94 312 104 0.241 66 45 14 8 17 10.5 16187 chr14 20864049 20864049 A G rs2228026 TEP1 Synonymous SNV I465I 0.076 0.055 0.082 24 89 21 0.062 24 3 0 3 0 1.517 16188 chr3 169988286 169988286 C T rs56257047 PRKCI Synonymous SNV L176L 0.172 0.146 0.214 71 202 56 0.182 63 19 6 5 7 13.27 16189 chr15 89422286 89422286 C T rs3809574 HAPLN3 Synonymous SNV P236P 0.254 0.258 0.231 83 298 99 0.213 68 39 13 10 12 13.14 16190 chr14 20872863 20872863 A G rs6413437 TEP1 Synonymous SNV A313A 0.055 0.029 0.061 16 64 11 0.041 18 1 0 0 0 0.934 16191 chr14 103465979 103465979 C T rs377547128 CDC42BPB Synonymous SNV P173P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.26 16192 chr3 170078232 170078232 C T rs3772173 SKIL Nonsynonymous SNV A38V 0.802 0.82 0.786 307 942 315 0.787 231 376 131 91 119 7.508 16193 chr15 89430506 89430506 C T rs3743395 HAPLN3 Synonymous SNV P8P 0.292 0.286 0.269 100 343 110 0.256 79 48 14 15 12 12.06 16194 chr15 89436244 89436244 T C rs8024779 HAPLN3 Nonsynonymous SNV T34A 0.521 0.521 0.507 188 612 200 0.482 149 159 51 39 46 0.368 16195 chr15 89436295 89436295 G A rs8039131 HAPLN3 Stop gain Q17X 0.358 0.359 0.337 128 420 138 0.328 99 73 25 19 17 2.033 16196 chr3 128627933 128627933 C T rs876755 ACAD9 Synonymous SNV P492P 0.206 0.237 0.194 68 242 91 0.174 57 17 15 8 7 Benign 12.98 16197 chr3 170198898 170198898 C T rs3732449 SLC7A14 Synonymous SNV S391S 0.188 0.19 0.18 73 221 73 0.187 53 28 9 6 7 12.87 16198 chr15 89450546 89450546 C T rs1878327 MFGE8 Synonymous SNV S45S 0.643 0.648 0.697 254 755 249 0.651 205 243 76 73 81 13.67 16199 chr14 20876189 20876189 G A rs10083536 TEP1 Nonsynonymous SNV T137M 0.023 0.023 0.017 4 27 9 0.01 5 0 0 0 0 0.003 16200 chr15 89450587 89450587 G T rs1878326 MFGE8 Nonsynonymous SNV L32M 0.647 0.648 0.707 257 760 249 0.659 208 248 76 74 82 0.037 16201 chr3 170715830 170715830 G A rs5398 SLC2A2 Synonymous SNV F360F 0.281 0.268 0.323 110 330 103 0.282 95 43 14 12 17 Benign 8.104 16202 chr14 21991626 21991626 C G rs1263810 SALL2 Nonsynonymous SNV G744R 0.302 0.331 0.347 111 355 127 0.285 102 54 18 21 16 23.2 16203 chr3 170825905 170825905 C G rs6444960 TNIK Synonymous SNV A693A 0.968 0.979 0.963 378 1136 376 0.969 283 549 184 136 183 12.04 16204 chr15 89838236 89838236 G A rs7183618 FANCI Synonymous SNV K849K 0.96 0.984 0.98 376 1127 378 0.964 288 541 186 141 181 Benign 5.008 16205 chr3 170825920 170825920 G A rs2291900 TNIK Synonymous SNV L688L 0.256 0.216 0.204 98 301 83 0.251 60 45 9 8 16 2.95 16206 chr15 90126121 90126121 C T rs10775247 TICRR Nonsynonymous SNV R287C 0.527 0.508 0.463 199 619 195 0.51 136 163 54 29 52 9.827 16207 chr3 170843782 170843782 C A rs13074171 TNIK Synonymous SNV S560S 0.105 0.133 0.105 49 123 51 0.126 31 7 4 1 0 17.43 16208 chr13 60240829 60240829 C T rs41293422 DIAPH3 Synonymous SNV A1111A 0.026 0.042 0.024 10 30 16 0.026 7 0 1 0 0 Benign 18.19 16209 chr14 101347803 101347803 C T rs117476938 RTL1 Nonsynonymous SNV R1108Q 0.046 0.039 0.044 6 54 15 0.015 13 2 1 0 0 0.601 16210 chr3 170893070 170893070 G A rs12637875 TNIK Synonymous SNV N248N 0.607 0.578 0.582 215 713 222 0.551 171 226 62 43 59 9.784 16211 chr15 90128966 90128966 C T rs11629584 TICRR Nonsynonymous SNV R401W 0.48 0.464 0.429 182 564 178 0.467 126 131 44 28 45 23.2 16212 chr13 60240961 60240961 C T rs9538494 DIAPH3 Synonymous SNV L1067L 0.278 0.258 0.259 97 326 99 0.249 76 41 13 9 13 Benign 12.31 16213 chr3 129324193 129324193 A G rs7619850 PLXND1 Synonymous SNV C430C 0.677 0.635 0.252 282 795 244 0.723 74 396 122 37 140 0.029 16214 chr3 171087469 171087469 G A rs3796295 TNIK Synonymous SNV P21P 0.677 0.703 0.735 258 795 270 0.662 216 272 99 82 86 14.7 16215 chr14 20898308 20898308 C T rs17242648 KLHL33 Nonsynonymous SNV R176Q 0.066 0.068 0.116 31 78 26 0.079 34 2 0 1 0 20.8 16216 chr13 60435526 60435526 T C rs61956736 DIAPH3 Nonsynonymous SNV K655E 0.05 0.052 0.061 12 59 20 0.031 18 1 2 1 0 Benign 4.294 16217 chr15 90138670 90138670 C T rs8042146 TICRR Synonymous SNV C575C 0.871 0.883 0.881 344 1023 339 0.882 259 445 152 113 152 14.52 16218 chr3 171338237 171338237 T G rs9881788 PLD1 Synonymous SNV V851V 0.336 0.365 0.395 129 394 140 0.331 116 59 27 24 15 3.546 16219 chr13 96547442 96547442 G A rs142205037 UGGT2 Synonymous SNV N917N 0.021 0.016 0 5 25 6 0.013 0 0 0 0 0 2.962 16220 chr15 90168108 90168108 C T rs894157 TICRR Nonsynonymous SNV R1522C 0.882 0.885 0.888 345 1036 340 0.885 261 456 154 114 152 14.37 16221 chr13 60566644 60566644 T C rs36084898 DIAPH3 Nonsynonymous SNV N100S 0.02 0.031 0.024 9 24 12 0.023 7 0 0 0 0 Benign 22.6 16222 chr3 171395468 171395468 A G rs2124147 PLD1 Synonymous SNV R590R 0.334 0.375 0.408 131 392 144 0.336 120 58 28 25 17 8.87 16223 chr15 90168693 90168693 T A rs1866928 TICRR Nonsynonymous SNV S1717T 0.355 0.378 0.418 148 417 145 0.379 123 78 32 25 30 0.034 16224 chr13 61985771 61985771 G A rs764124435 PCDH20 Synonymous SNV L821L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.676 16225 chr3 171404478 171404478 C A rs2290480 PLD1 Nonsynonymous SNV A622S 0.112 0.169 0.221 62 131 65 0.159 65 10 12 7 9 0.02 16226 chr15 90170237 90170237 C T rs3743372 TICRR Nonsynonymous SNV R1884C 0.336 0.359 0.395 139 394 138 0.356 116 71 28 22 27 30 16227 chr14 102504838 102504838 C T rs17541505 DYNC1H1 Synonymous SNV N3650N 0.053 0.06 0.065 29 62 23 0.074 19 2 0 0 1 Benign 15.88 16228 chr14 21167576 21167576 A T rs3748338 RNASE4 Nonsynonymous SNV T16S 0.169 0.167 0.15 58 198 64 0.149 44 23 4 1 6 24.7 16229 chr3 171969077 171969077 C G rs7652177 FNDC3B Nonsynonymous SNV T179S 0.397 0.393 0.446 149 466 151 0.382 131 90 28 28 25 10.89 16230 chr14 103593732 103593732 G A rs867896398 TNFAIP2 Nonsynonymous SNV G209D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.24 16231 chr15 90174789 90174789 C T rs9672286 KIF7 Synonymous SNV S1016S 0.526 0.505 0.463 202 618 194 0.518 136 164 54 31 53 Benign 18.29 16232 chr13 98829266 98829266 C G rs34253287 RNF113B Synonymous SNV A75A 0.01 0.013 0.007 12 12 5 0.031 2 0 0 0 0 11.02 16233 chr14 22138328 22138328 G A rs7144135 OR4E1 Nonsynonymous SNV A274V 0.83 0.828 0 315 975 318 0.808 0 407 131 0 128 4.031 16234 chr14 22138336 22138336 C T rs185717506 OR4E1 Synonymous SNV E271E 0.019 0.021 0 9 22 8 0.023 0 1 0 0 0 6.56 16235 chr15 90174824 90174824 C T rs12900805 KIF7 Nonsynonymous SNV G1005R 0.526 0.503 0.466 202 618 193 0.518 137 165 54 31 53 Benign 12.42 16236 chr3 172046861 172046861 T C rs2270568 FNDC3B Synonymous SNV G458G 0.524 0.487 0.537 208 615 187 0.533 158 155 40 41 57 3.335 16237 chr14 22138437 22138437 A G rs970025 OR4E1 Nonsynonymous SNV W238R 0.83 0.828 0 314 975 318 0.805 0 407 131 0 127 7.862 16238 chr3 172165727 172165727 C T rs572169 GHSR Synonymous SNV R159R 0.209 0.227 0.241 84 245 87 0.215 71 27 17 8 11 Benign 12.99 16239 chr15 90176432 90176432 T G rs3803531 KIF7 Synonymous SNV A886A 0.882 0.888 0.878 349 1036 341 0.895 258 456 154 114 155 Benign 0.17 16240 chr14 22138554 22138554 G T rs10143044 OR4E1 Nonsynonymous SNV L199I 0.528 0.531 0 193 620 204 0.495 0 151 52 0 44 0.418 16241 chr15 90191827 90191827 T C rs8037349 KIF7 Nonsynonymous SNV T368A 0.883 0.885 0.878 345 1037 340 0.885 258 457 154 114 152 Benign 0.003 16242 chr3 172166033 172166033 G A rs495225 GHSR Synonymous SNV G57G 0.71 0.734 0.704 277 834 282 0.71 207 306 104 74 95 Benign 8.526 16243 chr14 22138562 22138563 GT - rs3035516 OR4E1 0.819 0.815 0 313 961 313 0.803 0 394 126 0 126 16244 chr14 22951893 22951893 C T rs1483968 LOC105370401 0.049 0.029 0.075 22 57 11 0.056 22 7 1 2 0 6.488 16245 chr14 21469151 21469151 T C rs2234636 SLC39A2 Nonsynonymous SNV F115L 0.365 0.333 0.31 135 429 128 0.346 91 68 20 21 21 0.001 16246 chr3 172224303 172224303 A G rs1131532 TNFSF10 Synonymous SNV F275F 0.752 0.74 0.714 301 883 284 0.772 210 324 104 79 113 0.148 16247 chr13 99356607 99356607 G T rs8187838 SLC15A1 Nonsynonymous SNV T451N 0.041 0.047 0.044 8 48 18 0.021 13 2 0 0 0 0.041 16248 chr14 23044004 23044004 C T rs1051154 DAD1 Synonymous SNV X114X 0.055 0.057 0.054 20 65 22 0.051 16 2 0 0 1 17.69 16249 chr15 90195967 90195967 C G rs8179066 KIF7 Synonymous SNV A65A 0.883 0.888 0.878 349 1037 341 0.895 258 457 154 112 155 Benign 9.399 16250 chr3 174951756 174951756 T C rs4371530 NAALADL2 Nonsynonymous SNV M194T 0.77 0.781 0.803 308 904 300 0.79 236 340 120 96 119 0.002 16251 chr15 90196008 90196008 C T rs8179065 KIF7 Nonsynonymous SNV D52N 0.244 0.299 0.316 107 287 115 0.274 93 37 16 16 20 Benign 22.8 16252 chr14 21502345 21502345 A G rs8007176 RNASE13 Synonymous SNV L35L 0.394 0.411 0.367 147 462 158 0.377 108 76 28 21 26 0.078 16253 chr13 99364186 99364186 G A rs767177227 SLC15A1 Synonymous SNV I274I 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 14.37 16254 chr3 175165079 175165079 C T rs6802937 NAALADL2 Nonsynonymous SNV P385S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.669 16255 chr15 90210257 90210257 G A rs2304796 PLIN1 Synonymous SNV V373V 0.309 0.286 0.286 108 363 110 0.277 84 54 18 9 16 Likely benign 4.227 16256 chr14 102729910 102729910 C T rs34084056 MOK Nonsynonymous SNV D56N 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 32 16257 chr15 90210263 90210263 A G rs2304795 PLIN1 Synonymous SNV P371P 0.442 0.451 0.395 169 519 173 0.433 116 116 41 22 36 Likely benign 0.026 16258 chr3 175189447 175189447 G A rs9290555 NAALADL2 Synonymous SNV Q518Q 0.617 0.583 0.646 224 724 224 0.574 190 242 63 66 64 8.074 16259 chr15 90213229 90213229 G C rs6496589 PLIN1 Nonsynonymous SNV P194A 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 Likely benign 0.002 16260 chr3 175455116 175455116 A G rs62286105 NAALADL2 Nonsynonymous SNV Q640R 0.117 0.115 0.105 55 137 44 0.141 31 10 1 1 4 12.81 16261 chr15 90226947 90226947 C A rs7169981 PEX11A Synonymous SNV L104L 0.71 0.695 0.67 268 833 267 0.687 197 302 94 68 88 16.28 16262 chr14 23103044 23103044 C T rs1681598 OR6J1 Nonsynonymous SNV V225M 0.018 0.018 0.01 6 21 7 0.015 3 0 0 0 0 15.51 16263 chr15 90245174 90245174 T A rs4287542 WDR93 Nonsynonymous SNV L66H 0.411 0.456 0.452 163 482 175 0.418 133 95 41 31 34 0.153 16264 chr3 175473047 175473047 T C rs9826737 NAALADL2 Nonsynonymous SNV L677S 0.974 0.979 0.98 382 1143 376 0.979 288 556 184 141 187 4.769 16265 chr15 90245253 90245253 C T rs4316730 WDR93 Synonymous SNV T92T 0.411 0.456 0.446 163 482 175 0.418 131 95 41 31 34 10.34 16266 chr3 178546026 178546026 T C rs9831934 KCNMB2 Synonymous SNV N96N 0.644 0.654 0.602 239 756 251 0.613 177 248 74 50 74 1.733 16267 chr14 23103304 23103304 G T rs45470397 OR6J1 Nonsynonymous SNV S138Y 0.018 0.018 0.01 6 21 7 0.015 3 0 0 0 0 11.36 16268 chr15 90246336 90246336 A G rs16974175 WDR93 Synonymous SNV L153L 0.411 0.456 0.452 163 482 175 0.418 133 95 41 31 34 7.074 16269 chr3 178560581 178560581 A C rs6443583 KCNMB2 Synonymous SNV T188T 0.641 0.654 0.602 238 752 251 0.61 177 247 74 50 73 0.002 16270 chr15 90248819 90248819 A T rs17238056 WDR93 Synonymous SNV G177G 0.663 0.682 0.724 261 778 262 0.669 213 266 97 78 96 0.462 16271 chr3 178968634 178968634 C T rs7645550 KCNMB3 Nonsynonymous SNV A49T 0.342 0.31 0.313 145 402 119 0.372 92 61 20 13 30 26.2 16272 chr15 90260145 90260145 T A rs7163367 WDR93 Nonsynonymous SNV S254T 0.289 0.346 0.446 126 339 133 0.323 131 91 38 31 32 0.002 16273 chr14 100141640 100141640 G A HHIPL1 Nonsynonymous SNV V676M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.14 16274 chr15 90281278 90281278 A C rs35365973 WDR93 Nonsynonymous SNV Y563S 0.042 0.057 0.058 14 49 22 0.036 17 1 2 3 1 0.294 16275 chr13 76382100 76382100 C T rs2241913 LMO7 Nonsynonymous SNV L234F 0.144 0.154 0.129 64 169 59 0.164 38 15 5 0 6 23.7 16276 chr14 21546354 21546354 C T rs61744857 ARHGEF40 Nonsynonymous SNV R685C 0.063 0.06 0.071 22 74 23 0.056 21 2 3 1 2 23.5 16277 chr3 179096508 179096508 C G rs7637065 MFN1 Nonsynonymous SNV P523R 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.131 16278 chr14 23103356 23103356 G A rs45494902 OR6J1 Nonsynonymous SNV R121C 0.021 0.021 0.01 6 25 8 0.015 3 0 0 0 0 23 16279 chr3 130368069 130368069 A G rs7614116 COL6A6 Nonsynonymous SNV H1799R 0.371 0.388 0.405 145 435 149 0.372 119 77 32 22 30 0.169 16280 chr15 90293776 90293776 A C rs2305441 MESP1 Synonymous SNV P229P 0.612 0.659 0.629 248 719 253 0.636 185 252 102 71 91 0.003 16281 chr3 179137273 179137273 A G rs1362650 GNB4 Synonymous SNV S39S 0.453 0.461 0.473 179 532 177 0.459 139 124 41 29 39 Benign 0.183 16282 chr14 21549814 21549814 G A rs61741563 ARHGEF40 Synonymous SNV L215L 0.059 0.091 0.054 29 69 35 0.074 16 3 1 1 1 6.293 16283 chr14 100563943 100563943 G A rs3206354 EVL Synonymous SNV T100T 0.041 0.016 0.024 16 48 6 0.041 7 1 0 0 0 14.68 16284 chr15 90294281 90294281 A C rs28368490 MESP1 Nonsynonymous SNV L61R 0.165 0.206 0.211 61 194 79 0.156 62 26 14 14 8 0.036 16285 chr3 130718472 130718472 G A rs16835513 ATP2C1 Synonymous SNV K861K 0.073 0.091 0.099 40 86 35 0.103 29 2 3 2 2 Benign 13.16 16286 chr3 179298999 179298999 C T rs1132429 ACTL6A Synonymous SNV D339D 0.683 0.714 0.687 261 802 274 0.669 202 266 98 69 88 14.38 16287 chr3 179691094 179691094 G A rs12054457 PEX5L Synonymous SNV L13L 0.167 0.161 0.214 49 196 62 0.126 63 19 6 7 3 16.52 16288 chr15 90294289 90294289 T G rs28377352 MESP1 Synonymous SNV P58P 0.164 0.203 0.211 59 192 78 0.151 62 25 13 14 7 1.355 16289 chr14 23248112 23248112 A G rs1805061 SLC7A7 Synonymous SNV G220G 0.108 0.083 0.099 48 127 32 0.123 29 7 2 1 3 Benign 11.53 16290 chr3 180325487 180325487 T C rs9858483 TTC14 Synonymous SNV A408A 0.083 0.086 0.116 44 97 33 0.113 34 3 2 3 1 4.259 16291 chr15 90294304 90294304 - G rs759335947 MESP1 Frameshift insertion S54Efs*18 0.138 0.177 0.187 54 162 68 0.138 55 26 13 14 7 16292 chr14 21550499 21550499 G T rs61746329 ARHGEF40 Synonymous SNV T402T 0.059 0.091 0.058 29 69 35 0.074 17 3 1 1 1 8.997 16293 chr3 180334623 180334623 C T rs7612917 CCDC39 Synonymous SNV V799V 0.164 0.177 0.231 86 193 68 0.221 68 12 11 7 10 Benign 12.07 16294 chr15 90294306 90294306 - ACGGGGCTCGG rs763577487 MESP1 Frameshift insertion A53Pfs*21 0.104 0.138 0.15 39 122 53 0.1 44 27 13 14 7 16295 chr15 90320135 90320146 GGGCAGGGGCAG - rs56192595 MESP2 Q202_G205del 0.555 0.568 0.551 223 651 218 0.572 162 183 69 50 67 16296 chr14 23282512 23282512 C T rs45479698 SLC7A7 Synonymous SNV K32K 0.02 0.01 0.014 4 23 4 0.01 4 0 0 0 0 Benign 13.18 16297 chr14 104641986 104641986 C G rs199857970 KIF26A Nonsynonymous SNV P954R 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 22.4 16298 chr3 180365956 180365956 G A rs6769457 CCDC39 Synonymous SNV S453S 0.204 0.242 0.31 97 239 93 0.249 91 27 13 14 14 Benign 8.654 16299 chr3 130889683 130889683 G A rs35409692 NEK11 Nonsynonymous SNV E310K 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.004 16300 chr15 90334240 90334240 A G rs25654 ANPEP Synonymous SNV I871I 0.287 0.31 0.306 112 337 119 0.287 90 52 17 16 14 0.714 16301 chr3 182681740 182681740 C T rs4859146 DCUN1D1 Synonymous SNV A91A 0.72 0.68 0.721 279 845 261 0.715 212 307 91 78 94 19.8 16302 chr15 90335534 90335534 G A rs25652 ANPEP Synonymous SNV T795T 0.261 0.279 0.289 102 307 107 0.262 85 42 14 15 11 12.95 16303 chr15 90335788 90335788 C T rs25651 ANPEP Nonsynonymous SNV S752N 0.288 0.31 0.31 112 338 119 0.287 91 53 17 16 14 0.002 16304 chr3 182755209 182755209 T G rs2270968 MCCC1 Nonsynonymous SNV H347P 0.704 0.69 0.745 274 827 265 0.703 219 298 98 82 92 Benign 17.25 16305 chr14 21553004 21553004 C T rs749731 ARHGEF40 Synonymous SNV F580F 0.06 0.094 0.058 30 70 36 0.077 17 3 2 1 1 18.79 16306 chr15 90349558 90349558 C T rs25653 ANPEP Nonsynonymous SNV R86Q 0.499 0.5 0.524 188 586 192 0.482 154 153 54 37 47 8.278 16307 chr14 21553057 21553057 T C rs943992 ARHGEF40 Nonsynonymous SNV M598T 0.06 0.091 0.058 30 70 35 0.077 17 3 2 1 1 0.014 16308 chr3 132218623 132218623 G T rs3762672 DNAJC13 Nonsynonymous SNV A1463S 0.457 0.419 0.476 200 537 161 0.513 140 118 31 31 48 14.37 16309 chr3 182790249 182790249 G A rs7622479 MCCC1 Synonymous SNV L23L 0.913 0.896 0.915 357 1072 344 0.915 269 490 157 124 163 Benign 12.11 16310 chr15 90768959 90768959 A C rs908044 SEMA4B Synonymous SNV R392R 0.436 0.404 0.449 187 512 155 0.479 132 105 29 31 46 1.593 16311 chr3 182853670 182853670 T C rs482912 LAMP3 Nonsynonymous SNV I318V 0.713 0.661 0.738 284 837 254 0.728 217 298 85 80 95 0.002 16312 chr14 21557021 21557021 G A rs74584322 ARHGEF40 Synonymous SNV T755T 0.059 0.096 0.058 28 69 37 0.072 17 3 1 1 1 16.95 16313 chr15 90771704 90771704 G A rs3751656 SEMA4B Synonymous SNV P643P 0.218 0.26 0.241 98 256 100 0.251 71 23 11 5 11 1.884 16314 chr14 21560706 21560706 C G rs1065496 ZNF219 Synonymous SNV P250P 0.084 0.102 0.126 30 99 39 0.077 37 7 3 3 2 8.629 16315 chr15 90771750 90771750 T G rs3751655 SEMA4B Nonsynonymous SNV S659A 0.665 0.609 0.704 258 781 234 0.662 207 251 69 78 84 2.16 16316 chr14 23312554 23312554 C G rs2236302 MMP14 Synonymous SNV P259P 0.106 0.104 0.099 37 124 40 0.095 29 4 3 1 1 12.72 16317 chr3 182871962 182871962 C T rs653316 LAMP3 Synonymous SNV A89A 0.802 0.813 0.782 322 941 312 0.826 230 379 127 89 129 12.38 16318 chr14 103568953 103568953 A T rs139497928 EXOC3L4 Nonsynonymous SNV Q298L 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 15.51 16319 chr3 132361596 132361596 G A rs9877018 ACAD11 Synonymous SNV P100P 0.059 0.073 0.078 34 69 28 0.087 23 0 1 0 4 10.42 16320 chr14 23312923 23312923 T C rs2236307 MMP14 Synonymous SNV G285G 0.25 0.25 0.248 94 293 96 0.241 73 40 10 11 12 7.004 16321 chr14 21929367 21929367 A G rs61752840 RAB2B Synonymous SNV S167S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.359 16322 chr15 90775643 90775643 G A rs4451921 CIB1 Synonymous SNV D41D 0.23 0.172 0.255 91 270 66 0.233 75 28 3 6 9 Likely benign 4.96 16323 chr3 182925404 182925404 T C rs6804951 MCF2L2 Nonsynonymous SNV T902A 0.901 0.906 0.891 359 1058 348 0.921 262 478 158 121 166 5.302 16324 chr3 132401600 132401600 C T rs6794496 NPHP3 Synonymous SNV L1253L 0.1 0.083 0.133 36 117 32 0.092 39 6 2 4 0 Benign 14.62 16325 chr15 90784207 90784207 A G rs7166441 GDPGP1 Nonsynonymous SNV R23G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.007 16326 chr14 23518918 23518918 T C rs11623976 CDH24 Synonymous SNV R505R 0.221 0.214 0.235 97 259 82 0.249 69 30 9 9 13 4.143 16327 chr3 132441268 132441268 T C rs13099099 NPHP3-ACAD11 0.382 0.422 0.129 145 449 162 0.372 38 104 39 15 28 Benign 5.029 16328 chr3 183211906 183211906 A G rs1520101 KLHL6 Synonymous SNV N437N 0.579 0.555 0.554 259 680 213 0.664 163 204 58 47 88 2.347 16329 chr15 90784250 90784250 T C rs7171194 GDPGP1 Nonsynonymous SNV M37T 0.645 0.589 0.701 250 757 226 0.641 206 235 66 78 78 0.017 16330 chr3 183368216 183368216 A T rs3755648 KLHL24 Synonymous SNV R24R 0.302 0.292 0.306 119 354 112 0.305 90 43 16 11 10 0.089 16331 chr14 101005030 101005030 G A BEGAIN Nonsynonymous SNV T353M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.149 16332 chr15 90784930 90784930 C A rs10152994 GDPGP1 Nonsynonymous SNV P264T 0.229 0.169 0.255 90 269 65 0.231 75 26 2 6 9 12.79 16333 chr3 183368891 183368891 C T rs2293031 KLHL24 Synonymous SNV H249H 0.304 0.294 0.313 122 357 113 0.313 92 43 16 12 11 11.97 16334 chr3 183432983 183432983 C T rs3736535 YEATS2 Synonymous SNV T11T 0.144 0.135 0.146 69 169 52 0.177 43 9 1 1 2 16.69 16335 chr15 90785060 90785060 C T rs10153004 GDPGP1 Nonsynonymous SNV T307I 0.229 0.169 0.255 90 269 65 0.231 75 26 2 6 9 12.72 16336 chr14 21993638 21993638 G C rs2242527 SALL2 Nonsynonymous SNV S75C 0.048 0.063 0.095 39 56 24 0.1 28 2 1 1 3 23.7 16337 chr3 183476685 183476685 G A rs262993 YEATS2 Nonsynonymous SNV V530I 0.486 0.479 0.469 188 570 184 0.482 138 134 46 28 47 23.7 16338 chr14 23598976 23598976 G A rs17183863 SLC7A8 Synonymous SNV S158S 0.101 0.094 0.109 35 118 36 0.09 32 7 0 3 0 12.58 16339 chr15 90802227 90802227 G T rs67188155 TTLL13P 0 0 0.235 0 0 0 0 69 0 0 5 0 1.762 16340 chr15 90892293 90892293 C T rs2589973 GABARAPL3 0 0 0.32 0 0 0 0 94 0 0 16 0 9.953 16341 chr14 23744801 23744803 CAT - rs148005528 HOMEZ D545del 0.437 0.357 0.337 173 513 137 0.444 99 104 32 25 45 16342 chr3 183493744 183493746 GGA - rs146705467 YEATS2 G814del 0.508 0.492 0.293 189 596 189 0.485 86 150 48 28 50 16343 chr3 183524948 183524948 T C rs263031 YEATS2-AS1 0.515 0.497 0.52 196 605 191 0.503 153 152 49 35 52 1.536 16344 chr15 90892585 90892585 G C rs7162211 GABARAPL3 0 0 0.201 0 0 0 0 59 0 0 5 0 0.731 16345 chr14 21790040 21790040 G T rs10151259 RPGRIP1 Nonsynonymous SNV A547S 0.22 0.206 0.245 67 258 79 0.172 72 17 5 8 5 Benign 11.84 16346 chr3 183560195 183560195 A G rs13091 PARL Synonymous SNV H216H 0.533 0.5 0.361 202 626 192 0.518 106 163 46 35 54 2.143 16347 chr15 90897952 90897952 C T rs8023776 ZNF774 Synonymous SNV L20L 0.204 0.18 0.221 68 240 69 0.174 65 22 9 6 3 13.39 16348 chr13 96282324 96282324 G A rs147346095 DZIP1 Synonymous SNV I243I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.25 16349 chr3 183685534 183685534 A G rs939336 ABCC5 Synonymous SNV C122C 0.593 0.549 0.619 241 696 211 0.618 182 202 56 56 70 2.249 16350 chr15 90903311 90903311 A G rs2589957 ZNF774 Nonsynonymous SNV N83S 0.409 0.388 0.5 152 480 149 0.39 147 102 36 38 21 0.002 16351 chr14 21792811 21792811 G A rs9322965 RPGRIP1 Synonymous SNV P599P 0.236 0.229 0.245 73 277 88 0.187 72 29 6 7 9 Benign 9.434 16352 chr3 183696402 183696402 A G rs1132776 ABCC5 Synonymous SNV A395A 0.591 0.549 0.612 242 694 211 0.621 180 202 56 55 71 7.824 16353 chr13 96547448 96547448 T C rs764635815 UGGT2 Synonymous SNV G915G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 16354 chr14 20874411 20874411 T C rs61734876 TEP1 Nonsynonymous SNV H239R 0.037 0.021 0.024 6 43 8 0.015 7 1 0 0 0 0.042 16355 chr15 90903982 90903982 A G rs150500921 ZNF774 Nonsynonymous SNV I307V 0.011 0.018 0.014 9 13 7 0.023 4 0 0 0 0 0.062 16356 chr14 23829958 23829958 G A rs2231800 EFS Synonymous SNV L35L 0.052 0.055 0.031 21 61 21 0.054 9 1 0 0 1 10.08 16357 chr3 183699516 183699516 T C rs7636910 ABCC5 Synonymous SNV Q382Q 0.44 0.398 0.432 160 517 153 0.41 127 108 32 26 33 11.7 16358 chr14 21796784 21796784 G C rs3748361 RPGRIP1 Nonsynonymous SNV E1033Q 0.33 0.346 0.272 125 388 133 0.321 80 69 26 19 22 Benign 0.007 16359 chr3 133547692 133547692 G A rs2293373 RAB6B Synonymous SNV I189I 0.221 0.193 0.184 85 259 74 0.218 54 30 11 5 9 10.8 16360 chr3 183754294 183754294 G C rs6443930 HTR3D, HTR3D Nonsynonymous SNV G36A 0.52 0.526 0.527 203 610 202 0.521 155 159 52 38 51 20.6 16361 chr15 91010776 91010776 T C rs1505936 IQGAP1 Synonymous SNV P710P 0.323 0.279 0.361 104 379 107 0.267 106 66 22 21 12 4.951 16362 chr13 97484830 97484830 A G rs9516771 HS6ST3 Nonsynonymous SNV K265R 0.092 0.081 0.109 43 108 31 0.11 32 4 1 0 2 23.4 16363 chr15 91083353 91083353 G A rs8033595 CRTC3 Nonsynonymous SNV S72N 0.566 0.596 0.52 243 665 229 0.623 153 183 70 36 68 14.9 16364 chr3 183755822 183755822 G A rs1000952 HTR3D Nonsynonymous SNV R52H 0.652 0.646 0.701 272 765 248 0.697 206 249 73 71 92 23.1 16365 chr3 134278270 134278270 C T rs1127826 CEP63 Nonsynonymous SNV S605L 0.279 0.344 0.262 125 327 132 0.321 77 43 26 16 21 Benign 20.5 16366 chr15 91424574 91424574 G C rs6226 FURIN Synonymous SNV G617G 0.646 0.641 0.673 246 758 246 0.631 198 241 77 63 77 1.121 16367 chr13 97995386 97995386 G A rs35116734 MBNL2 Synonymous SNV T152T 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 14.5 16368 chr3 183756702 183756702 G A rs6789754 HTR3D Nonsynonymous SNV R260H 0.586 0.573 0.65 246 688 220 0.631 191 202 56 62 74 22.6 16369 chr15 91428290 91428290 C T rs11539637 FES Synonymous SNV S5S 0.583 0.589 0.565 240 685 226 0.615 166 207 63 48 73 9.551 16370 chr15 91430436 91430436 T C rs2071383 FES Synonymous SNV A110A 0.978 0.99 0.986 379 1148 380 0.972 290 561 188 143 184 7.284 16371 chr3 134322742 134322742 A G rs2293293 KY Synonymous SNV L539L 0.626 0.651 0.684 254 735 250 0.651 201 231 84 67 80 0.003 16372 chr3 183756742 183756742 C T rs55674402 HTR3D Synonymous SNV V273V 0.445 0.443 0.469 173 523 170 0.444 138 118 34 31 36 7.403 16373 chr14 21899631 21899631 C T rs10467770 CHD8 Nonsynonymous SNV V58M 0.244 0.279 0.265 91 286 107 0.233 78 31 22 4 12 Benign 3.209 16374 chr15 91452595 91452595 A G rs2106673 MAN2A2 Nonsynonymous SNV Q412R 0.333 0.328 0.34 130 391 126 0.333 100 59 17 20 25 12.89 16375 chr3 183774762 183774762 C A rs6766410 HTR3C Nonsynonymous SNV N163K 0.469 0.445 0.473 169 551 171 0.433 139 128 37 35 36 20.6 16376 chr14 23103373 23103373 G T rs45479894 OR6J1 Nonsynonymous SNV T115K 0.036 0.023 0.017 7 42 9 0.018 5 0 0 0 0 23.7 16377 chr14 23902753 23902753 G A rs2069540 MYH7 Synonymous SNV T63T 0.51 0.518 0.503 181 599 199 0.464 148 157 52 38 40 Benign 8.232 16378 chr15 91524841 91524841 G T rs7172758 PRC1 Nonsynonymous SNV A146E 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 13.41 16379 chr3 183778010 183778010 G C rs6807362 HTR3C Nonsynonymous SNV G405A 0.604 0.563 0.578 218 709 216 0.559 170 220 55 52 61 0.001 16380 chr15 91525197 91525197 C T rs2301826 PRC1 Synonymous SNV T53T 0.208 0.208 0.241 72 244 80 0.185 71 21 11 10 5 Uncertain significance 10.13 16381 chr15 91543761 91543761 C T rs11073964 VPS33B Nonsynonymous SNV G487S 0.459 0.44 0.466 170 539 169 0.436 137 125 36 35 38 Benign 20.9 16382 chr14 23237212 23237212 G A rs17619 OXA1L Nonsynonymous SNV V91I 0.074 0.089 0.065 23 87 34 0.059 19 4 3 2 0 7.674 16383 chr3 183818416 183818416 G A rs7627615 HTR3E Nonsynonymous SNV A86T 0.666 0.607 0.68 231 782 233 0.592 200 258 65 71 68 12.21 16384 chr15 92638193 92638193 G A rs2286355 SLCO3A1 Synonymous SNV A243A 0.358 0.435 0.381 129 420 167 0.331 112 68 37 21 17 13.34 16385 chr15 92647645 92647645 G C rs1517618 SLCO3A1 Nonsynonymous SNV E294D 0.842 0.854 0.84 327 989 328 0.838 247 424 139 102 140 11.43 16386 chr3 183823576 183823576 T C rs4912524 HTR3E Synonymous SNV S274S 0.999 0.997 0.993 389 1173 383 0.997 292 586 191 145 194 4.635 16387 chr3 183899832 183899832 C T rs8478 AP2M1 Synonymous SNV I318I 0.16 0.169 0.259 87 188 65 0.223 76 16 7 8 8 15.94 16388 chr15 93198671 93198671 A G rs501381 FAM174B Synonymous SNV S73S 1 0.995 0.993 389 1174 382 0.997 292 587 191 145 194 5.583 16389 chr14 24033027 24033027 G A rs12897422 AP1G2 Nonsynonymous SNV S305F 0.126 0.115 0.119 56 148 44 0.144 35 5 2 3 6 27.2 16390 chr3 183901281 183901281 G A rs2231224 AP2M1 Synonymous SNV A393A 0.117 0.109 0.194 59 137 42 0.151 57 7 6 5 4 4.882 16391 chr15 93198679 93198684 TGGAGC - rs66488707 FAM174B S69_S70del 0.996 1 0.993 389 1169 384 0.997 292 584 192 145 194 16392 chr15 93198784 93198784 A G rs2438194 FAM174B Nonsynonymous SNV W36R 0.876 0.839 0.949 355 1028 322 0.91 279 514 161 139 177 0.013 16393 chr3 183904049 183904049 A G rs11539876 ABCF3 Synonymous SNV Q18Q 0.219 0.219 0.252 64 257 84 0.164 74 20 11 8 1 5.525 16394 chr14 24533474 24533474 G A rs117092113 CARMIL3 Nonsynonymous SNV R1000H 0.031 0.047 0.024 16 36 18 0.041 7 0 0 0 0 24.6 16395 chr3 183975365 183975365 C T rs7633387 EEF1AKMT4, EEF1AKMT4-ECE2 Nonsynonymous SNV H101Y 0.977 0.982 0.983 385 1147 377 0.987 289 560 185 142 190 10.99 16396 chr15 93447631 93447631 T G rs1439619 MIR3175 0 0 0.473 0 0 0 0 139 0 0 39 0 8.358 16397 chr15 93510603 93510603 A G rs4777755 CHD2 Synonymous SNV E683E 0.873 0.88 0.888 335 1025 338 0.859 261 450 148 116 145 Benign 4.367 16398 chr14 24533539 24533539 C A rs10146906 CARMIL3 Nonsynonymous SNV L1022M 0.424 0.43 0.415 154 498 165 0.395 122 107 40 28 28 22.6 16399 chr3 183996068 183996068 C T rs3752904 ECE2, EEF1AKMT4-ECE2 Synonymous SNV A210A 0.555 0.583 0.578 221 651 224 0.567 170 184 68 54 61 18.23 16400 chr15 93521604 93521604 A G rs11074121 CHD2 Synonymous SNV Q906Q 0.873 0.878 0.888 335 1025 337 0.859 261 450 147 115 145 Benign 0.901 16401 chr3 184019681 184019681 G A rs11545172 PSMD2 Nonsynonymous SNV A46T 0.064 0.081 0.065 28 75 31 0.072 19 2 1 0 1 11.42 16402 chr15 93536197 93536197 C T rs2272457 CHD2 Synonymous SNV Y1188Y 0.388 0.393 0.32 139 455 151 0.356 94 88 27 19 29 Benign 13.01 16403 chr14 23302643 23302643 C A rs78923701 MRPL52 Synonymous SNV P57P 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 19.49 16404 chr3 137843106 137843106 T C rs2170309 A4GNT Synonymous SNV X341X 0.608 0.609 0.565 247 714 234 0.633 166 214 70 47 76 0.491 16405 chr14 24534206 24534206 G A rs139165380 CARMIL3 Synonymous SNV S1040S 0.006 0.008 0.014 5 7 3 0.013 4 0 0 0 0 10.39 16406 chr15 93567864 93567864 A C rs12906163 CHD2 Synonymous SNV R1806R 0.475 0.474 0.446 168 558 182 0.431 131 121 39 26 40 Benign 0.074 16407 chr3 184037533 184037533 A G rs13319149 EIF4G1 Nonsynonymous SNV T74A 0.997 1 0.997 389 1170 384 0.997 293 583 192 146 194 1.882 16408 chr3 137843476 137843476 G T rs2246945 A4GNT Nonsynonymous SNV A218D 0.608 0.609 0.565 248 714 234 0.636 166 214 70 47 76 2.825 16409 chr15 93588264 93588264 G C rs4299103 RGMA Synonymous SNV L423L 0.386 0.432 0.439 139 453 166 0.356 129 88 36 28 23 4.098 16410 chr15 93588289 93588289 G A rs4778078 RGMA Nonsynonymous SNV A415V 0.241 0.266 0.194 87 283 102 0.223 57 32 12 4 12 11.74 16411 chr14 24563620 24563620 C T rs77298044 PCK2 Synonymous SNV A2A 0.036 0.021 0.017 11 42 8 0.028 5 0 0 0 0 Benign 22.8 16412 chr3 137850003 137850003 A G rs2724691 A4GNT Synonymous SNV C32C 0.618 0.602 0.554 248 725 231 0.636 163 217 68 45 76 0.023 16413 chr14 23371055 23371055 G C rs1127066 RBM23 Nonsynonymous SNV F394L 0.319 0.294 0.303 107 375 113 0.274 89 53 15 11 13 18.79 16414 chr3 184039666 184039666 A G rs2178403 EIF4G1 Nonsynonymous SNV M236V 0.752 0.76 0.81 307 883 292 0.787 238 328 110 93 119 Benign 0.001 16415 chr3 137880743 137880743 G A rs2622736 DBR1 Synonymous SNV D541D 0.658 0.659 0.537 265 773 253 0.679 158 247 83 47 88 4.805 16416 chr15 93588336 93588336 A C rs4238485 RGMA Nonsynonymous SNV D399E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.04 16417 chr3 137881265 137881265 T A rs3732839 DBR1 Synonymous SNV T367T 0.662 0.661 0.609 265 777 254 0.679 179 251 84 53 88 9.493 16418 chr14 105173831 105173831 G T rs3809455 INF2 Synonymous SNV S409S 0.06 0.052 0.075 25 71 20 0.064 22 1 1 2 0 Benign 4.148 16419 chr3 184046470 184046470 C T rs2230571 EIF4G1 Synonymous SNV H1140H 0.238 0.237 0.262 112 279 91 0.287 77 26 11 6 18 16.95 16420 chr14 24587639 24587639 G A rs3825584 DCAF11 Nonsynonymous SNV R207H 0.348 0.299 0.289 141 409 115 0.362 85 80 19 12 26 14.38 16421 chr15 93616975 93616975 A G rs4598860 RGMA Nonsynonymous SNV L4P 0.639 0.646 0.616 239 750 248 0.613 181 229 76 60 76 4.344 16422 chr3 184071063 184071063 G C rs9820367 CLCN2 Nonsynonymous SNV T624S 0.572 0.542 0.551 217 671 208 0.556 162 189 50 44 61 Uncertain significance 8.548 16423 chr15 94945719 94945719 G T rs7178698 MCTP2 Nonsynonymous SNV R285L 0.802 0.799 0.82 306 942 307 0.785 241 376 123 99 119 0.628 16424 chr14 24587667 24587667 C T rs17101367 DCAF11 Synonymous SNV D216D 0.252 0.193 0.204 101 296 74 0.259 60 41 10 6 9 12.37 16425 chr3 184094183 184094183 A G rs956732 THPO Synonymous SNV S95S 0.5 0.526 0.663 223 587 202 0.572 195 157 53 68 63 Benign 9.923 16426 chr3 138289163 138289163 T C rs1673608 CEP70 Synonymous SNV L134L 0.451 0.438 0.333 163 530 168 0.418 98 137 37 28 38 4.808 16427 chr15 95398725 95398725 T C rs3803490 LOC440311 0 0 0.245 0 0 0 0 72 0 0 15 0 0.008 16428 chr14 23530622 23530622 T C rs60168438 ACIN1 Synonymous SNV S434S 0.227 0.232 0.214 95 266 89 0.244 63 25 13 7 14 7.584 16429 chr3 184099378 184099378 C A rs35929225 CHRD Synonymous SNV G159G 0.351 0.383 0.422 137 412 147 0.351 124 79 26 28 21 22.6 16430 chr14 105423809 105423809 G A rs76650680 AHNAK2 Nonsynonymous SNV R51W 0.026 0.021 0.031 5 30 8 0.013 9 0 0 0 1 25.8 16431 chr3 138289221 138289221 C T rs1673607 CEP70 Nonsynonymous SNV S115N 0.505 0.471 0.449 179 593 181 0.459 132 160 41 29 44 1.39 16432 chr15 95398867 95398867 G A rs3803488 LOC440311 0 0 0.32 0 0 0 0 94 0 0 21 0 11.25 16433 chr15 95399291 95399291 A C rs12591416 LOC440311 0 0 0.806 0 0 0 0 237 0 0 97 0 3.218 16434 chr14 23548787 23548787 - GTGAAT rs34870944 ACIN1 S603_R604insHS 0.146 0.13 0.16 46 171 50 0.118 47 14 4 6 5 16435 chr3 184144646 184144646 G A rs7630982 LINC02054 0.117 0.091 0.146 41 137 35 0.105 43 8 1 5 2 7.117 16436 chr15 95399686 95399686 A G rs28414103 LOC440311 0 0 0.568 0 0 0 0 167 0 0 77 0 8.116 16437 chr14 24615435 24615435 T C rs4575 PSME2 Synonymous SNV R21R 0.298 0.273 0.252 129 350 105 0.331 74 50 17 7 23 5.647 16438 chr14 23549319 23549319 A G rs1885097 ACIN1 Nonsynonymous SNV S427P 0.452 0.414 0.415 188 531 159 0.482 122 110 37 31 44 6.042 16439 chr15 95399982 95399982 A T rs11631484 LOC440311 0 0 0.187 0 0 0 0 55 0 0 22 0 1.894 16440 chr3 184290348 184290348 G A rs9862375 EPHB3 Synonymous SNV V80V 0.111 0.104 0.146 42 130 40 0.108 43 6 3 2 1 8.382 16441 chr3 138329862 138329862 G A rs811322 FAIM Synonymous SNV P21P 0.537 0.523 0.483 191 631 201 0.49 142 181 52 35 48 5.105 16442 chr15 95400013 95400013 G A rs11631624 LOC440311 0 0 0.503 0 0 0 0 148 0 0 67 0 9.838 16443 chr14 24617238 24617238 C T rs2273913 RNF31 Synonymous SNV Y82Y 0.183 0.143 0.18 78 215 55 0.2 53 15 3 3 6 12.91 16444 chr15 97327393 97327393 C T rs3812907 SPATA8 0.097 0.086 0.095 34 114 33 0.087 28 3 1 1 2 34 16445 chr3 184293769 184293769 T C rs7652597 EPHB3 Synonymous SNV C336C 0.413 0.339 0.442 151 485 130 0.387 130 109 19 29 29 0.992 16446 chr3 184298663 184298663 G A rs11719912 EPHB3 Synonymous SNV Q845Q 0.124 0.112 0.16 43 146 43 0.11 47 9 3 3 1 0.925 16447 chr15 98301845 98301845 C T rs2048115 LINC00923 0 0 0.952 0 0 0 0 280 0 0 135 0 11.49 16448 chr15 98504100 98504100 G C rs4965046 ARRDC4 Synonymous SNV G3G 0.553 0.479 0.66 215 649 184 0.551 194 288 79 77 89 9.198 16449 chr3 184299167 184299167 T C rs1138510 EPHB3 Synonymous SNV S953S 0.399 0.339 0.435 149 468 130 0.382 128 105 19 28 29 0.013 16450 chr15 98504326 98504326 A G rs12101554 ARRDC4 Nonsynonymous SNV T79A 0.733 0.682 0.605 292 861 262 0.749 178 328 93 73 108 0.003 16451 chr14 23549380 23549380 G A rs1885098 ACIN1 Synonymous SNV P406P 0.146 0.13 0.156 45 171 50 0.115 46 14 4 6 4 11.65 16452 chr3 184428903 184428903 T G rs9872799 MAGEF1 Nonsynonymous SNV E236A 0.693 0.706 0.711 276 814 271 0.708 209 281 98 75 95 17.06 16453 chr14 23549785 23549785 T C rs3811182 ACIN1 Nonsynonymous SNV I271M 0.453 0.411 0.381 188 532 158 0.482 112 111 37 31 44 0.001 16454 chr15 98513845 98513845 T C rs2130882 ARRDC4 Nonsynonymous SNV S358P 0.545 0.536 0.507 219 640 206 0.562 149 175 50 42 60 23.9 16455 chr3 184429133 184429133 - TCC rs112819846 MAGEF1 E158_D159insE 0.688 0.701 0.687 271 808 269 0.695 202 275 97 70 92 16456 chr3 184429414 184429414 C A rs10937187 MAGEF1 Nonsynonymous SNV A66S 0.659 0.656 0.667 256 774 252 0.656 196 252 84 65 82 3.064 16457 chr14 101200860 101200860 G A rs1058009 DLK1 Nonsynonymous SNV S260N 0.087 0.089 0.061 27 102 34 0.069 18 1 1 1 1 1.947 16458 chr15 98995081 98995081 A G rs12101356 FAM169B Nonsynonymous SNV S115P 0.893 0.914 0.881 342 1048 351 0.877 259 465 159 115 149 5.757 16459 chr3 184633247 184633247 A C rs4686879 VPS8 Synonymous SNV L776L 0.624 0.659 0.605 241 733 253 0.618 178 216 87 56 73 0.055 16460 chr15 99478225 99478225 G A rs2229765 IGF1R Synonymous SNV E1043E 0.391 0.409 0.384 152 459 157 0.39 113 83 35 24 29 Benign 9.793 16461 chr14 23777099 23777099 G A rs2231301 BCL2L2, BCL2L2-PABPN1 Synonymous SNV P41P 0.22 0.24 0.173 77 258 92 0.197 51 23 9 4 5 8.605 16462 chr3 184647413 184647413 T C rs4643688 VPS8 Synonymous SNV D907D 0.941 0.953 0.912 361 1105 366 0.926 268 519 175 127 166 6.617 16463 chr15 99511793 99511793 C G rs1521484 PGPEP1L Nonsynonymous SNV E169Q 0.602 0.622 0.605 223 707 239 0.572 178 215 79 50 66 23.2 16464 chr14 105960187 105960187 C T rs118022421 TEDC1 Nonsynonymous SNV R201C 0.011 0.016 0.017 4 13 6 0.01 5 0 0 0 0 15.86 16465 chr3 184700356 184700356 A C rs4572747 VPS8 Synonymous SNV A1128A 0.989 1 0.976 383 1161 384 0.982 287 575 192 141 189 0.505 16466 chr15 99511804 99511804 - C rs398043625 PGPEP1L Frameshift insertion V165Gfs*40 0.602 0.622 0.605 223 707 239 0.572 178 215 79 50 66 16467 chr3 185146702 185146702 C T rs3732577 MAP3K13 Synonymous SNV S111S 0.158 0.164 0.146 62 186 63 0.159 43 13 6 3 8 12.01 16468 chr15 99544429 99544429 G A rs2593051 PGPEP1L Nonsynonymous SNV P3L 0.796 0.826 0.738 292 934 317 0.749 217 376 135 80 120 14.71 16469 chr14 24736027 24736027 G A rs14193 RABGGTA Synonymous SNV R474R 0.396 0.375 0.384 128 465 144 0.328 113 92 28 29 16 12.87 16470 chr14 23845043 23845043 G A rs375340039 IL25 Nonsynonymous SNV R163H 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 25 16471 chr14 104381502 104381502 T C rs1053419 ATP5MPL Nonsynonymous SNV I9V 0.095 0.091 0.119 38 111 35 0.097 35 10 1 1 2 0.001 16472 chr3 185229464 185229464 T C rs61730237 LIPH Synonymous SNV K372K 0.445 0.453 0.442 186 523 174 0.477 130 110 44 23 48 7.353 16473 chr15 99715352 99715352 A G rs2602016 TTC23 Synonymous SNV L256L 0.767 0.763 0.769 302 900 293 0.774 226 351 118 89 116 6.96 16474 chr14 24736961 24736961 T C rs729421 RABGGTA Nonsynonymous SNV T420A 0.416 0.391 0.391 132 488 150 0.338 115 102 30 29 17 1.16 16475 chr3 141327474 141327474 G A rs295323 RASA2 Synonymous SNV L721L 0.299 0.268 0.333 108 351 103 0.277 98 53 19 17 17 0.144 16476 chr15 99762041 99762041 C T rs78534478 TTC23 Nonsynonymous SNV R70H 0.06 0.042 0.041 17 70 16 0.044 12 1 0 0 1 25.2 16477 chr3 185990096 185990096 C T rs2193587 DGKG Nonsynonymous SNV R316K 0.715 0.745 0.714 275 839 286 0.705 210 290 105 76 93 11.94 16478 chr14 105965102 105965102 G A rs34137879 TEDC1 Nonsynonymous SNV R334Q 0.032 0.036 0.034 17 38 14 0.044 10 0 0 0 0 18.16 16479 chr15 99798503 99798503 A C rs6598229 HSP90B2P 0 0 0.656 0 0 0 0 193 0 0 67 0 1.624 16480 chr3 186006566 186006566 T C rs710443 DGKG Synonymous SNV V159V 0.679 0.714 0.65 246 797 274 0.631 191 264 96 63 77 0.564 16481 chr16 1004554 1004554 C T rs3751667 LMF1 Synonymous SNV T102T 0.212 0.195 0.224 71 249 75 0.182 66 38 7 6 6 9.635 16482 chr14 23869993 23869993 G A rs61731179 MYH6 Synonymous SNV N445N 0.106 0.096 0.085 41 124 37 0.105 25 5 0 1 2 Benign 11.94 16483 chr16 10274093 10274093 T G rs780265201 GRIN2A Nonsynonymous SNV Q59P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 16484 chr3 186337713 186337713 T C rs4917 AHSG Nonsynonymous SNV M249T 0.757 0.734 0.796 296 889 282 0.759 234 340 107 95 115 Benign 0.001 16485 chr3 142222284 142222284 A G rs2227931 ATR Synonymous SNV Y1672Y 0.371 0.385 0.432 168 436 148 0.431 127 96 30 22 39 Benign/Likely benign 2.685 16486 chr14 24769849 24769849 - GAG rs113258190 NOP9 E169_D170insE 0.221 0.224 0.109 74 259 86 0.19 32 22 12 6 4 16487 chr14 24769849 24769849 - GAGGAG rs113258190 NOP9 E169_D170insEE 0.475 0.495 0.289 195 558 190 0.5 85 140 51 29 48 16488 chr16 1034834 1034834 T C rs237674 SOX8 Synonymous SNV N263N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.003 16489 chr3 142277536 142277536 A G rs2227929 ATR Synonymous SNV D541D 0.41 0.417 0.439 176 481 160 0.451 129 97 30 22 39 Benign 6.188 16490 chr3 186338382 186338382 G C rs4918 AHSG Nonsynonymous SNV S228T 0.756 0.732 0.765 297 888 281 0.762 225 339 107 91 116 Benign 0.002 16491 chr16 1035077 1035077 C T rs11542179 SOX8 Synonymous SNV S344S 0.163 0.159 0.15 65 191 61 0.167 44 15 7 1 6 8.395 16492 chr16 103517 103517 A C rs183360 POLR3K Nonsynonymous SNV S24A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.759 16493 chr3 142277575 142277575 A T rs2227930 ATR Synonymous SNV G528G 0.551 0.526 0.599 212 647 202 0.544 176 185 50 49 56 Benign/Likely benign 0.109 16494 chr3 186338425 186338425 A C rs1071592 AHSG Synonymous SNV T242T 0.853 0.857 0.878 331 1002 329 0.849 258 427 146 114 138 0.002 16495 chr3 142281612 142281612 A G rs2227928 ATR Nonsynonymous SNV M211T 0.55 0.526 0.585 212 646 202 0.544 172 184 50 48 56 Benign/Likely benign 1.622 16496 chr16 10524657 10524659 GAC - rs113642662 ATF7IP2 T62del 0.537 0.565 0.548 192 631 217 0.492 161 169 63 51 48 16497 chr3 186358366 186358366 A C rs1047115 FETUB Synonymous SNV S39S 0.099 0.086 0.119 36 116 33 0.092 35 11 1 3 2 0.017 16498 chr16 10524957 10524957 G T rs34430103 ATF7IP2 Synonymous SNV G160G 0.096 0.089 0.139 34 113 34 0.087 41 8 2 3 1 0.107 16499 chr3 186395180 186395180 T C rs7629680 HRG Synonymous SNV H362H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.011 16500 chr3 142408606 142408606 G A rs6793735 PLS1 Synonymous SNV P376P 0.569 0.549 0.629 229 668 211 0.587 185 199 56 54 67 11.29 16501 chr16 10575824 10575824 C A rs1970817 ATF7IP2 Synonymous SNV P589P 0.45 0.469 0.469 158 528 180 0.405 138 118 39 42 31 8.567 16502 chr14 104481153 104481153 T C rs148349259 TDRD9 Nonsynonymous SNV I733T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.218 16503 chr16 10631912 10631912 C T rs2279868 EMP2 Synonymous SNV A63A 0.245 0.268 0.252 83 288 103 0.213 74 33 20 10 14 15.42 16504 chr3 186395436 186395436 C T rs1042445 HRG Nonsynonymous SNV R448C 0.222 0.214 0.228 112 261 82 0.287 67 28 5 12 16 14.2 16505 chr3 142503605 142503605 G A rs7621642 TRPC1 Synonymous SNV S306S 0.154 0.13 0.17 45 181 50 0.115 50 19 1 5 2 12.16 16506 chr16 10769958 10769958 T C rs2719710 TEKT5 Nonsynonymous SNV Q315R 0.379 0.331 0.35 135 445 127 0.346 103 93 22 15 23 12.43 16507 chr3 142523349 142523349 G A rs3821647 TRPC1 Synonymous SNV T643T 0.143 0.12 0.139 43 168 46 0.11 41 15 0 2 2 12.39 16508 chr14 23994145 23994145 G A rs61977703 ZFHX2 Nonsynonymous SNV A1669V 0.009 0.016 0 4 10 6 0.01 0 0 0 0 0 Benign 0.524 16509 chr3 186395572 186395572 A T rs1042464 HRG Nonsynonymous SNV N493I 0.484 0.479 0.517 209 568 184 0.536 152 135 48 43 55 8.629 16510 chr3 142542449 142542449 G T rs17554211 PCOLCE2 Nonsynonymous SNV P292T 0.131 0.164 0.16 53 154 63 0.136 47 8 3 3 5 22.8 16511 chr16 10775855 10775855 G A rs12918646 TEKT5 Synonymous SNV D286D 0.173 0.115 0.156 69 203 44 0.177 46 19 2 4 5 5.672 16512 chr16 10788406 10788406 G T rs9922129 TEKT5 Synonymous SNV R109R 0.219 0.146 0.207 75 257 56 0.192 61 31 3 6 7 12.52 16513 chr3 186443018 186443018 T C rs1656922 KNG1 Nonsynonymous SNV M178T 0.524 0.568 0.531 214 615 218 0.549 156 163 67 40 55 0.001 16514 chr14 104559852 104559852 T C rs941953 ASPG Synonymous SNV I72I 0.21 0.198 0.235 90 246 76 0.231 69 28 11 8 11 0.541 16515 chr16 108585 108585 T C rs216598 RHBDF1 Synonymous SNV S774S 0.811 0.833 0.847 331 952 320 0.849 249 391 134 106 137 0.002 16516 chr14 103188738 103188738 C T rs61739374 RCOR1 Synonymous SNV P468P 0.071 0.091 0.078 24 83 35 0.062 23 1 0 0 0 17.52 16517 chr14 23511579 23511579 G A rs34457782 PSMB11 Nonsynonymous SNV G49S 0.014 0.016 0.003 12 16 6 0.031 1 0 0 0 0 Benign 31 16518 chr14 24877161 24877161 A G rs146351794 NYNRIN Synonymous SNV Q95Q 0.078 0.068 0.092 32 91 26 0.082 27 5 2 0 1 0.288 16519 chr3 143371201 143371201 C T rs1242069 SLC9A9 Synonymous SNV V217V 0.05 0.065 0.065 21 59 25 0.054 19 2 2 0 2 19.4 16520 chr14 104559919 104559919 T C rs1770984 ASPG Nonsynonymous SNV C95R 0.208 0.198 0.235 90 244 76 0.231 69 27 11 8 11 0.016 16521 chr3 186459475 186459475 C G rs5030084 KNG1 Nonsynonymous SNV D430E 0.025 0.021 0.024 15 29 8 0.038 7 0 0 0 0 21.8 16522 chr16 10995933 10995933 A G rs8046121 CIITA Nonsynonymous SNV R174G 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 10.5 16523 chr3 145917761 145917761 T C rs1061409 PLSCR4 Nonsynonymous SNV I155V 0.306 0.292 0.279 97 359 112 0.249 82 52 20 11 15 1.596 16524 chr14 23548783 23548783 - GAACGT rs3077646 ACIN1 S607_A608insRS 0.303 0.276 0.259 142 356 106 0.364 76 50 20 14 26 16525 chr16 11000848 11000848 G C rs4774 CIITA Nonsynonymous SNV G500A 0.274 0.31 0.252 135 322 119 0.346 74 42 17 12 23 Benign 0.001 16526 chr3 186459646 186459646 G A rs5030085 KNG1 Synonymous SNV G487G 0.025 0.021 0.024 16 29 8 0.041 7 0 0 0 0 0.218 16527 chr14 23549285 23549285 G A rs3751501 ACIN1 Nonsynonymous SNV S438F 0.094 0.086 0.034 37 110 33 0.095 10 8 0 0 1 26.9 16528 chr14 104559922 104559922 C G rs1744284 ASPG Nonsynonymous SNV L96V 0.209 0.198 0.235 90 245 76 0.231 69 28 11 8 11 3.325 16529 chr14 24885606 24885606 A G rs17103672 NYNRIN Nonsynonymous SNV I1551V 0.078 0.068 0.095 33 92 26 0.085 28 5 2 0 2 0.317 16530 chr14 24534916 24534916 G T rs79328356 CARMIL3 Nonsynonymous SNV G1161V 0.049 0.081 0.034 16 58 31 0.041 10 3 1 0 0 22.8 16531 chr3 186459775 186459775 C T rs5030086 KNG1 Synonymous SNV D530D 0.025 0.021 0.024 15 29 8 0.038 7 0 0 0 0 0.327 16532 chr3 145938619 145938619 T C rs3762685 PLSCR4 Nonsynonymous SNV N19S 0.302 0.286 0.269 96 355 110 0.246 79 54 20 12 15 0.002 16533 chr16 11001691 11001691 C T rs13330686 CIITA Nonsynonymous SNV S781L 0.106 0.091 0.105 47 124 35 0.121 31 6 1 2 2 Benign 0.015 16534 chr3 186459927 186459927 T C rs710446 KNG1 Nonsynonymous SNV I581T 0.432 0.466 0.459 182 507 179 0.467 135 114 37 36 37 2.234 16535 chr3 146177815 146177815 C T rs6806535 PLSCR2 Synonymous SNV Q28Q 0.627 0.625 0.622 202 736 240 0.518 183 222 74 56 54 3.067 16536 chr16 11001694 11001694 T C rs13336804 CIITA Nonsynonymous SNV V782A 0.106 0.094 0.109 47 124 36 0.121 32 6 1 2 2 Benign 0.001 16537 chr3 186460110 186460110 G C rs5030087 KNG1 Nonsynonymous SNV G642A 0.037 0.042 0.027 19 44 16 0.049 8 0 1 0 0 0.015 16538 chr3 148459395 148459395 C T rs5182 AGTR1 Synonymous SNV L191L 0.422 0.385 0.378 178 495 148 0.456 111 107 29 24 40 Benign 0.083 16539 chr14 22138358 22138358 C T rs188151135 OR4E1 Nonsynonymous SNV R264H 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 14.15 16540 chr3 148562310 148562310 G A rs1059502 CPB1 Nonsynonymous SNV D208N 0.155 0.154 0.153 59 182 59 0.151 45 17 2 6 2 0.002 16541 chr16 11001914 11001914 G A rs2229321 CIITA Synonymous SNV A855A 0.106 0.094 0.109 47 124 36 0.121 32 6 1 2 2 Benign 0.832 16542 chr14 23549383 23549383 G T rs45510791 ACIN1 Synonymous SNV A405A 0.093 0.086 0.034 37 109 33 0.095 10 8 0 0 1 7.147 16543 chr3 186504148 186504148 T C rs266718 SNORA63B 0.346 0.31 0.361 157 406 119 0.403 106 76 21 19 29 4.025 16544 chr3 186509517 186509517 G A rs187868 RFC4 Synonymous SNV A266A 0.416 0.352 0.364 148 488 135 0.379 107 96 29 22 26 17.06 16545 chr14 22138561 22138565 GGTGT - OR4E1 T196del 0.012 0.013 0 1 14 5 0.003 0 0 0 0 0 16546 chr16 11002904 11002904 G A rs2228238 CIITA Synonymous SNV T308T 0.706 0.674 0.728 244 829 259 0.626 214 288 85 79 75 Benign 7.075 16547 chr14 24572402 24572402 G A rs201340475 PCK2 Nonsynonymous SNV R335H 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 33 16548 chr16 11002927 11002927 A G rs7197779 CIITA Nonsynonymous SNV Q316R 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 0.495 16549 chr14 22138566 22138566 - CC rs879260862 OR4E1 Frameshift insertion D195Efs*16 0.012 0.013 0 1 14 5 0.003 0 0 0 0 0 16550 chr3 186954285 186954285 A G rs710452 MASP1 Synonymous SNV P458P 0.998 1 0.99 388 1172 384 0.995 291 585 192 144 193 0.016 16551 chr14 22139067 22139067 C G rs72686097 OR4E1 Synonymous SNV R28R 0.012 0.013 0 1 14 5 0.003 0 0 0 0 0 9.651 16552 chr14 105054202 105054202 G A rs144894622 C14orf180 Synonymous SNV A76A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.849 16553 chr3 186954324 186954324 G A rs3774268 MASP1 Synonymous SNV S445S 0.171 0.219 0.122 60 201 84 0.154 36 23 8 3 7 6.35 16554 chr14 22139069 22139069 G A rs72686098 OR4E1 Nonsynonymous SNV R28W 0.012 0.013 0 1 14 5 0.003 0 0 0 0 0 11.76 16555 chr14 23549879 23549881 TCC - rs3841035 ACIN1 E241del 0.097 0.086 0.034 37 114 33 0.095 10 9 0 0 1 16556 chr16 11016045 11016045 C T rs2229322 CIITA Synonymous SNV C473C 0.105 0.081 0.126 41 123 31 0.105 37 5 0 1 0 Benign 11.89 16557 chr3 148759961 148759961 C T rs143125997 HLTF Nonsynonymous SNV G729D 0.008 0.016 0.003 4 9 6 0.01 1 0 0 0 0 10.33 16558 chr3 187088656 187088656 C T rs1047584 RTP4 Nonsynonymous SNV T79I 0.234 0.242 0.197 100 275 93 0.256 58 35 10 8 13 0.007 16559 chr16 1115904 1115904 G A rs66626263 SSTR5-AS1 0 0 0.381 0 0 0 0 112 0 0 18 0 5.578 16560 chr16 1116169 1116169 A G rs7189857 SSTR5-AS1 0 0 0.34 0 0 0 0 100 0 0 18 0 1.948 16561 chr16 1116220 1116220 - G rs34024516 SSTR5-AS1 0 0 0.793 0 0 0 0 233 0 0 112 0 16562 chr3 187088923 187088923 G A rs35224605 RTP4 Nonsynonymous SNV S168N 0.026 0.036 0.031 15 31 14 0.038 9 2 1 0 2 0.012 16563 chr16 1116445 1116445 A G rs530518 SSTR5-AS1 0 0 0.959 0 0 0 0 282 0 0 138 0 2.114 16564 chr3 148881673 148881673 C T rs3732557 HPS3 Synonymous SNV H677H 0.149 0.143 0.024 53 175 55 0.136 7 21 4 2 3 Benign 11.54 16565 chr14 23652004 23652004 G A rs1884545 SLC7A8 Synonymous SNV I40I 0.105 0.122 0.082 40 123 47 0.103 24 6 2 2 2 19.16 16566 chr14 105173863 105173874 CCCCACCCCCAC - rs573567814 INF2 P425_P428del 0.122 0.112 0.051 51 143 43 0.131 15 22 10 4 8 16567 chr16 1129872 1129872 C T rs169068 SSTR5 Nonsynonymous SNV P335L 0.542 0.568 0.582 203 636 218 0.521 171 170 62 46 49 7.495 16568 chr14 104029423 104029423 G A rs535382401 COA8 Nonsynonymous SNV E29K 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 16569 chr3 187088926 187088926 G A rs1533594 RTP4 Nonsynonymous SNV C169Y 0.808 0.852 0.796 340 949 327 0.872 234 385 139 93 148 0.001 16570 chr14 24658642 24658642 A G rs74317759 TM9SF1 Synonymous SNV Y513Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.035 16571 chr3 148904434 148904434 T G rs1053709 CP Synonymous SNV G650G 0.073 0.049 0.085 18 86 19 0.046 25 3 0 2 0 Benign 8.178 16572 chr16 1129912 1129912 A G rs642249 SSTR5 Synonymous SNV P348P 0.98 0.977 0.983 387 1151 375 0.992 289 564 183 142 192 4.519 16573 chr3 187416634 187416634 C A rs1973791 RTP2 Synonymous SNV L110L 0.66 0.646 0.65 238 775 248 0.61 191 258 81 66 73 12.95 16574 chr16 11367143 11367143 G A rs438289 PRM3 Stop gain R104X 0.993 0.995 0.949 386 1166 382 0.99 279 579 190 138 191 9.966 16575 chr3 187416719 187416719 T C rs11707167 RTP2 Nonsynonymous SNV Q82R 0.67 0.664 0.66 239 787 255 0.613 194 266 85 68 73 0.003 16576 chr14 25076906 25076906 C T rs20545 GZMH Nonsynonymous SNV R84Q 0.123 0.107 0.099 43 144 41 0.11 29 2 0 0 0 4.302 16577 chr16 11367154 11367154 C T rs429744 PRM3 Nonsynonymous SNV R100Q 0.895 0.893 0.786 365 1051 343 0.936 231 468 154 100 172 10.45 16578 chr3 187447032 187447032 G A rs1056932 BCL6 Synonymous SNV N387N 0.701 0.698 0.718 248 823 268 0.636 211 291 93 80 74 4.491 16579 chr16 11374866 11374866 G T rs737008 PRM1 Synonymous SNV R47R 0.581 0.573 0.531 237 682 220 0.608 156 187 62 38 73 3.783 16580 chr16 11773662 11773662 C G rs3190321 TXNDC11 Nonsynonymous SNV V304L 0.542 0.542 0.554 219 636 208 0.562 163 175 58 49 62 10.04 16581 chr3 188327461 188327461 C T rs1059380 LPP Synonymous SNV D314D 0.554 0.612 0.605 218 650 235 0.559 178 184 73 53 59 11.86 16582 chr3 149193684 149193684 T C rs1802837 TM4SF4 Synonymous SNV C83C 0.379 0.385 0.347 157 445 148 0.403 102 75 26 20 29 0.014 16583 chr14 104407903 104407903 A T rs17101950 RD3L Nonsynonymous SNV L44I 0.049 0.036 0.051 12 58 14 0.031 15 4 0 0 1 14.55 16584 chr3 188590446 188590446 A G rs1136644 LPP Synonymous SNV R388R 0.596 0.576 0.544 211 700 221 0.541 160 214 63 42 62 10.81 16585 chr3 149374873 149374873 G T rs1055153 WWTR1 Nonsynonymous SNV P74Q 0.081 0.06 0.082 32 95 23 0.082 24 4 1 2 2 25.1 16586 chr16 11852354 11852354 A C rs8743 ZC3H7A Synonymous SNV V787V 0.397 0.419 0.391 142 466 161 0.364 115 98 40 26 23 3.734 16587 chr3 189713205 189713205 T C rs9821880 P3H2 Synonymous SNV E169E 0.26 0.253 0.34 99 305 97 0.254 100 31 10 20 8 Benign 7.758 16588 chr16 11873158 11873158 T C rs16958654 ZC3H7A Nonsynonymous SNV H57R 0.086 0.099 0.099 39 101 38 0.1 29 7 4 3 2 9.228 16589 chr3 190030680 190030680 A G rs9869263 CLDN1 Synonymous SNV G123G 0.861 0.878 0.83 333 1011 337 0.854 244 439 149 99 140 Benign 4.886 16590 chr14 104571054 104571054 C G rs8012505 ASPG Nonsynonymous SNV S344R 0.103 0.089 0.15 48 121 34 0.123 44 7 1 4 0 23.5 16591 chr14 31344406 31344406 T G rs1569792 COCH Nonsynonymous SNV L60R 1 1 0.595 389 1174 384 0.997 175 587 192 87 194 9.81 16592 chr16 11876203 11876203 T C rs1429077 ZC3H7A Nonsynonymous SNV N3S 0.086 0.102 0.105 39 101 39 0.1 31 7 4 3 2 4.014 16593 chr3 190573340 190573340 G C rs111544243 GMNC Nonsynonymous SNV T250R 0.02 0.029 0.02 8 24 11 0.021 6 1 1 0 0 0.053 16594 chr16 11940390 11940390 T C rs8052900 RSL1D1 Synonymous SNV T201T 0.626 0.677 0.667 277 735 260 0.71 196 229 90 68 101 0.812 16595 chr3 190573374 190573374 C G rs111524664 GMNC Nonsynonymous SNV E239Q 0.02 0.029 0.02 8 24 11 0.021 6 1 1 0 0 0.737 16596 chr16 11969724 11969724 G C rs33657 GSPT1 Synonymous SNV V584V 0.475 0.44 0.408 154 558 169 0.395 120 124 37 21 31 9.915 16597 chr16 12009279 12009279 A G rs424518 GSPT1 Nonsynonymous SNV V100A 0.999 1 0.966 387 1173 384 0.992 284 586 192 141 193 0.001 16598 chr3 190578566 190578566 A G rs13075089 GMNC Nonsynonymous SNV S29P 0.411 0.461 0.469 191 482 177 0.49 138 101 36 35 46 19.6 16599 chr16 12009304 12009304 C A rs11544193 GSPT1 Nonsynonymous SNV G92C 0.493 0.523 0.541 225 579 201 0.577 159 140 53 41 65 25 16600 chr3 190999917 190999917 C A rs6788319 UTS2B Nonsynonymous SNV S21I 0.618 0.677 0.602 252 725 260 0.646 177 235 85 52 81 0.017 16601 chr3 150128154 150128154 T C rs61734437 TSC22D2 Synonymous SNV P339P 0.117 0.104 0.112 42 137 40 0.108 33 7 0 2 3 0.005 16602 chr16 12060163 12060163 A G rs373496 TNFRSF17 Nonsynonymous SNV N81S 0.984 0.979 0.983 383 1155 376 0.982 289 569 184 142 188 0.001 16603 chr3 150128484 150128484 C A rs3749400 TSC22D2 Synonymous SNV V449V 0.118 0.107 0.116 42 138 41 0.108 34 8 1 2 3 4.949 16604 chr3 191093053 191093053 T C rs2028572 CCDC50 Synonymous SNV H217H 0.356 0.365 0.395 132 418 140 0.338 116 72 30 20 20 Benign 0.004 16605 chr16 12162969 12162969 A G rs1641843 SNX29 Synonymous SNV P433P 0.463 0.453 0.388 173 543 174 0.444 114 123 37 22 30 0.083 16606 chr3 150128994 150128994 T G rs34647320 TSC22D2 Synonymous SNV P619P 0.116 0.107 0.112 42 136 41 0.108 33 7 1 2 3 1.88 16607 chr3 191093080 191093080 A G rs2028573 CCDC50 Synonymous SNV K226K 0.081 0.112 0.129 44 95 43 0.113 38 4 1 6 2 Benign 0.046 16608 chr14 31819913 31819913 A G rs7158257 HEATR5A Synonymous SNV L808L 0.898 0.896 0.881 360 1054 344 0.923 259 472 154 116 165 7.616 16609 chr16 1252369 1252369 C T rs61734410 CACNA1H Nonsynonymous SNV P640L 0.336 0.331 0.299 122 395 127 0.313 88 61 26 12 19 Benign 12.69 16610 chr3 191093175 191093175 T A rs2028574 CCDC50 Nonsynonymous SNV I258N 0.355 0.365 0.395 132 417 140 0.338 116 71 30 20 20 Benign 0.069 16611 chr14 23874541 23874541 C T rs17277970 MYH6 Synonymous SNV L131L 0.106 0.102 0.088 35 124 39 0.09 26 6 1 2 1 Benign/Likely benign 13.54 16612 chr16 1254369 1254369 C T rs3751664 CACNA1H Nonsynonymous SNV R788C 0.093 0.078 0.099 31 109 30 0.079 29 2 0 0 3 Benign 18.76 16613 chr3 150391810 150391810 A C rs73003074 ERICH6 Nonsynonymous SNV L280V 0.124 0.151 0.201 39 145 58 0.1 59 5 2 4 0 5.578 16614 chr14 23876267 23876267 C T rs28711516 MYH6 Nonsynonymous SNV G56R 0.106 0.102 0.088 35 125 39 0.09 26 6 1 2 1 Benign/Likely benign 25.4 16615 chr3 191093310 191093310 A G rs4677728 CCDC50 Nonsynonymous SNV K303R 0.356 0.365 0.395 131 418 140 0.336 116 71 30 20 20 Benign 6.907 16616 chr14 105351854 105351854 G A CEP170B Nonsynonymous SNV G570D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.905 16617 chr16 1260481 1260481 T C rs8063574 CACNA1H Synonymous SNV D1319D 0.778 0.815 0.857 322 913 313 0.826 252 353 124 107 133 Benign 0.039 16618 chr14 23884889 23884889 C T rs3729830 MYH7 Synonymous SNV A1702A 0.124 0.128 0.122 46 145 49 0.118 36 8 4 1 2 Benign 11.12 16619 chr3 191097966 191097966 T C rs293813 CCDC50 Nonsynonymous SNV M156T 0.406 0.411 0.449 164 477 158 0.421 132 104 37 32 35 Benign 0.016 16620 chr16 1260636 1260636 G A rs28365124 CACNA1H Synonymous SNV A1341A 0.089 0.089 0.112 31 104 34 0.079 33 4 0 0 1 Benign 9.287 16621 chr16 1261219 1261219 A G rs2753326 CACNA1H Synonymous SNV S1425S 0.58 0.607 0.633 241 681 233 0.618 186 207 67 56 73 Benign 2.467 16622 chr14 23898994 23898994 G A rs2231126 MYH7 Synonymous SNV D376D 0.106 0.104 0.095 35 125 40 0.09 28 6 1 2 1 Benign 10.07 16623 chr16 1261222 1261222 A G rs2753325 CACNA1H Synonymous SNV S1426S 0.58 0.607 0.633 241 681 233 0.618 186 207 67 56 73 Benign 0.089 16624 chr3 191100561 191100561 C A rs364519 CCDC50 Synonymous SNV S247S 0.408 0.419 0.473 162 479 161 0.415 139 103 37 32 35 Benign 11.35 16625 chr14 33291494 33291494 C T rs11845640 AKAP6 Nonsynonymous SNV A1492V 0.103 0.112 0.095 25 121 43 0.064 28 2 3 2 0 10.91 16626 chr16 1261282 1261282 T C rs4984637 CACNA1H Synonymous SNV I1446I 0.784 0.818 0.857 323 920 314 0.828 252 359 125 107 134 Benign 0.703 16627 chr3 150932075 150932075 T G rs55936523 P2RY14 Synonymous SNV P10P 0.147 0.143 0.139 51 173 55 0.131 41 9 5 5 4 1.002 16628 chr3 191179193 191179193 A G rs293833 PYDC2 Nonsynonymous SNV Q81R 0.765 0.745 0.728 275 898 286 0.705 214 345 108 74 99 0.001 16629 chr16 1268013 1268013 G C rs57135930 CACNA1H Synonymous SNV T1800T 0.089 0.086 0.109 28 104 33 0.072 32 4 0 0 1 Benign 1.579 16630 chr14 23900794 23900794 G A rs2069542 MYH7 Synonymous SNV F244F 0.218 0.242 0.235 87 256 93 0.223 69 32 7 6 8 Benign 16.4 16631 chr14 24976574 24976574 T C rs5247 CMA1 Nonsynonymous SNV H66R 0.02 0.008 0.01 11 24 3 0.028 3 0 0 0 0 22.8 16632 chr16 1268376 1268376 G A rs58124832 CACNA1H Nonsynonymous SNV R1865Q 0.084 0.083 0.109 28 99 32 0.072 32 3 0 0 1 Benign 11.39 16633 chr14 23375564 23375564 G A rs72681969 RBM23 Nonsynonymous SNV R65W 0.046 0.052 0.071 19 54 20 0.049 21 0 0 1 0 34 16634 chr3 193031926 193031926 C T rs2280268 ATP13A5 Nonsynonymous SNV G739S 0.619 0.612 0.667 235 727 235 0.603 196 229 69 65 74 16.55 16635 chr14 33292914 33292914 A C rs2239648 AKAP6 Synonymous SNV P1965P 0.108 0.122 0.102 31 127 47 0.079 30 3 4 2 0 0.119 16636 chr14 25076836 25076836 G A rs142357322 GZMH Synonymous SNV N107N 0.239 0.224 0.248 90 280 86 0.231 73 0 0 0 0 2.383 16637 chr3 151012896 151012896 C T rs9819885 GPR87 Synonymous SNV P46P 0.219 0.208 0.184 80 257 80 0.205 54 26 11 4 11 7.928 16638 chr16 1268494 1268494 C T rs2745136 CACNA1H Synonymous SNV D1904D 0.578 0.609 0.636 244 678 234 0.626 187 205 65 56 76 Benign 11.12 16639 chr14 23375570 23375570 G A rs764052323 RBM23 Stop gain R63X 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 36 16640 chr14 25076906 25076906 C G rs20545 GZMH Nonsynonymous SNV R84P 0.033 0.031 0.075 7 39 12 0.018 22 0 0 0 0 2.589 16641 chr3 193036794 193036794 G C rs6788770 ATP13A5 Synonymous SNV V673V 0.836 0.854 0.861 324 982 328 0.831 253 406 138 109 132 1.451 16642 chr16 1269029 1269029 T C rs2738893 CACNA1H Synonymous SNV L1977L 0.579 0.609 0.633 244 680 234 0.626 186 207 65 56 76 Benign 0.166 16643 chr3 193042776 193042776 T C rs11926955 ATP13A5 Synonymous SNV S517S 0.837 0.854 0.861 324 983 328 0.831 253 407 138 109 132 0.021 16644 chr16 1269095 1269095 C T rs72552056 CACNA1H Nonsynonymous SNV R1999C 0.089 0.086 0.112 28 105 33 0.072 33 4 0 0 1 Benign 17.89 16645 chr3 193081122 193081122 G T rs12637558 ATP13A5 Nonsynonymous SNV S96Y 0.418 0.469 0.364 175 491 180 0.449 107 104 42 22 39 24.3 16646 chr14 25100282 25100282 A G rs2236338 GZMB Nonsynonymous SNV Y235H 0.316 0.292 0.31 110 371 112 0.282 91 64 15 15 15 1.368 16647 chr14 35242828 35242828 G A rs2275145 BAZ1A Synonymous SNV D1002D 0.511 0.505 0.432 213 600 194 0.546 127 157 49 42 57 10.51 16648 chr16 1270162 1270162 G A rs1054645 CACNA1H Nonsynonymous SNV R2071H 0.576 0.607 0.633 244 676 233 0.626 186 204 64 56 76 Benign 10.19 16649 chr14 35263983 35263983 T C rs17102745 BAZ1A Synonymous SNV Q445Q 0.162 0.156 0.156 56 190 60 0.144 46 12 5 2 2 0.886 16650 chr3 193180592 193180592 G A rs59451116 ATP13A4 Synonymous SNV D494D 0.21 0.229 0.214 83 247 88 0.213 63 26 9 7 5 11.46 16651 chr14 25101548 25101548 G A rs1126639 GZMB Synonymous SNV N95N 0.131 0.133 0.051 49 154 51 0.126 15 2 1 1 1 Likely benign 0.613 16652 chr3 151090424 151090424 G A rs3732765 MED12L Nonsynonymous SNV R1210Q 0.352 0.365 0.364 126 413 140 0.323 107 73 27 19 18 19.6 16653 chr14 35331344 35331344 G A rs572132869 BAZ1A Nonsynonymous SNV R100C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 16654 chr3 193183817 193183817 A G rs3796181 ATP13A4 Synonymous SNV S423S 0.436 0.443 0.466 169 512 170 0.433 137 115 34 30 33 0.01 16655 chr16 1270349 1270349 T C rs4247094 CACNA1H Synonymous SNV D2133D 0.752 0.789 0.854 320 883 303 0.821 251 348 123 106 134 Benign 0.023 16656 chr14 25101589 25101589 G C rs11539752 GZMB Nonsynonymous SNV P82A 0.319 0.286 0.235 111 374 110 0.285 69 65 15 14 16 Benign 0.001 16657 chr3 193209178 193209178 T C rs6788448 ATP13A4 Nonsynonymous SNV I181M 0.394 0.396 0.435 152 462 152 0.39 128 98 28 28 28 23.6 16658 chr16 1271890 1271890 G T rs1004041 TPSG1 Nonsynonymous SNV F288L 0.447 0.464 0.446 189 525 178 0.485 131 121 38 26 46 0.372 16659 chr14 21250124 21250124 G A rs1045922 RNASE6 Nonsynonymous SNV R89Q 0.268 0.271 0.262 104 315 104 0.267 77 40 12 12 12 0.002 16660 chr16 1271938 1271938 T C rs72775455 TPSG1 Synonymous SNV S272S 0.089 0.086 0.112 28 104 33 0.072 33 4 0 0 1 0.016 16661 chr14 25101629 25101629 T C rs10909625 GZMB Synonymous SNV K68K 0.32 0.289 0.282 111 376 111 0.285 83 65 15 15 16 Benign 0.002 16662 chr3 193210768 193210768 A G rs2130407 ATP13A4 Synonymous SNV L157L 0.376 0.396 0.463 149 441 152 0.382 136 101 31 30 31 5.99 16663 chr16 1272038 1272038 G A rs11248860 TPSG1 Nonsynonymous SNV T239I 0.686 0.729 0.748 297 805 280 0.762 220 278 95 80 113 0.008 16664 chr14 23744827 23744829 TCC - rs35076736 HOMEZ E537del 0.32 0.349 0.299 124 376 134 0.318 88 62 21 22 21 16665 chr3 193272417 193272417 A G rs9883845 ATP13A4-AS1 0.158 0.161 0.15 63 186 62 0.162 44 14 4 4 4 10.18 16666 chr3 193272443 193272454 GTGTGTGTGTGT - rs757292952 ATP13A4-AS1 0.134 0.141 0.041 60 157 54 0.154 12 5 2 5 5 16667 chr16 1272275 1272275 C T rs143120059 TPSG1 Nonsynonymous SNV R193H 0.087 0.083 0.109 27 102 32 0.069 32 4 0 0 1 24 16668 chr3 193332522 193332522 C A rs75414918 OPA1 Nonsynonymous SNV Q15K 0.016 0.008 0.017 8 19 3 0.021 5 0 0 0 0 Benign 19.05 16669 chr3 151545557 151545557 C A AADAC Nonsynonymous SNV S266Y 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 4.053 16670 chr14 20823095 20823095 G A rs3093927 PARP2 Synonymous SNV P297P 0.015 0.018 0.003 1 18 7 0.003 1 0 0 0 0 12.92 16671 chr16 1272750 1272750 G A rs113856625 TPSG1 Nonsynonymous SNV S138F 0.092 0.086 0.109 32 108 33 0.082 32 4 0 0 3 23 16672 chr3 193332800 193332800 G A rs117888848 OPA1 Synonymous SNV S107S 0.011 0.008 0.01 8 13 3 0.021 3 0 0 0 0 Benign 11.14 16673 chr14 31355527 31355527 C A rs17097458 LOC100506071 0.047 0.036 0.061 16 55 14 0.041 18 2 0 1 0 Benign/Likely benign 8.258 16674 chr16 1272865 1272865 G A rs4984639 TPSG1 Synonymous SNV L100L 0.673 0.711 0.735 291 790 273 0.746 216 266 90 78 109 1.246 16675 chr3 193334991 193334991 G A rs7624750 OPA1 Nonsynonymous SNV S158N 0.422 0.456 0.418 171 495 175 0.438 123 110 37 28 37 Benign 17.44 16676 chr14 23844979 23844979 C A rs1124053 IL25 Synonymous SNV R142R 0.158 0.203 0.194 86 186 78 0.221 57 11 5 5 10 19.03 16677 chr16 12758966 12758966 T C rs1713480 CPPED1 Nonsynonymous SNV K99R 0.902 0.904 0.912 345 1059 347 0.885 268 478 156 122 152 9.567 16678 chr3 152058449 152058449 A G rs13077912 TMEM14EP 0.183 0.193 0.16 53 215 74 0.136 47 19 6 7 2 21 16679 chr14 36943919 36943919 G T rs2057328 SFTA3 0.994 0.997 0.677 389 1167 383 0.997 199 580 191 99 194 0.883 16680 chr3 193361198 193361198 A C rs149752576 OPA1 Synonymous SNV R357R 0.014 0.008 0.017 8 17 3 0.021 5 0 0 0 0 Benign 1.811 16681 chr16 13002359 13002359 T C rs9938751 SHISA9 Nonsynonymous SNV M196T 0.815 0.758 0.793 323 957 291 0.828 233 395 108 92 133 3.2 16682 chr3 193374964 193374964 T C rs9851685 OPA1 Synonymous SNV A667A 0.42 0.451 0.415 171 493 173 0.438 122 109 37 28 37 Benign 9.373 16683 chr16 1364365 1364365 A G rs4610 UBE2I Synonymous SNV P46P 0.156 0.138 0.122 61 183 53 0.156 36 16 3 2 4 1.01 16684 chr14 105860943 105860943 G A rs372171573 PACS2 Synonymous SNV A793A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.8 16685 chr16 1389153 1389153 C A rs7202563 BAIAP3 Nonsynonymous SNV P87T 0.893 0.893 0.925 348 1048 343 0.892 272 465 152 127 154 3.538 16686 chr3 194061826 194061826 C T rs11711157 CPN2 Nonsynonymous SNV V536M 0.268 0.266 0.34 91 315 102 0.233 100 45 15 18 12 15.16 16687 chr16 1394507 1394507 A C rs1132356 BAIAP3 Nonsynonymous SNV D511A 0.917 0.948 0.939 368 1076 364 0.944 276 492 172 131 173 0.048 16688 chr14 105406235 105406235 A C rs78014542 AHNAK2 Nonsynonymous SNV S5085A 0.015 0.036 0.02 10 18 14 0.026 6 0 0 1 1 0.002 16689 chr14 38060646 38060646 C T rs33984772 FOXA1 Nonsynonymous SNV S448N 0.094 0.115 0.088 26 110 44 0.067 26 9 2 3 1 12.94 16690 chr3 194061906 194061906 T C rs4974538 CPN2 Nonsynonymous SNV Q509R 0.772 0.786 0.82 302 906 302 0.774 241 344 122 98 120 0.001 16691 chr14 23874507 23874507 G T rs2277473 MYH6 Synonymous SNV R143R 0.129 0.117 0.156 64 151 45 0.164 46 13 1 1 7 Benign/Likely benign 13.42 16692 chr14 31583512 31583512 C T rs61976859 HECTD1 Nonsynonymous SNV E1885K 0.122 0.154 0.027 45 143 59 0.115 8 5 4 3 3 23.2 16693 chr16 1397815 1397815 C T rs1132358 BAIAP3 Synonymous SNV D970D 0.497 0.453 0.412 191 584 174 0.49 121 155 39 31 46 13.87 16694 chr14 23889445 23889445 - G rs45504498 MYH7 0.081 0.089 0.116 47 95 34 0.121 34 4 0 1 6 16695 chr3 194061907 194061907 G A rs4974539 CPN2 Stop gain Q509X 0.384 0.378 0.391 154 451 145 0.395 115 93 28 24 33 25.4 16696 chr16 1419947 1419947 A G rs11248874 UNKL Synonymous SNV L21L 0.941 0.964 0.966 371 1105 370 0.951 284 521 178 138 176 5.823 16697 chr3 154018887 154018887 G C rs9438 DHX36 Nonsynonymous SNV S416C 0.398 0.38 0.34 149 467 146 0.382 100 93 30 26 25 24.1 16698 chr14 24649669 24649669 C T rs2273912 IPO4 Synonymous SNV Q1075Q 0.072 0.078 0.075 26 84 30 0.067 22 8 4 0 0 12.54 16699 chr14 38679473 38679473 C T rs2228497 SSTR1 Synonymous SNV V293V 0.357 0.328 0.347 130 419 126 0.333 102 69 25 15 24 12.41 16700 chr16 1464636 1464636 A C rs111437424 UNKL Synonymous SNV T19T 0.875 0.901 0.68 354 1027 346 0.908 200 457 157 95 160 0.007 16701 chr3 194062519 194062519 C T rs3732477 CPN2 Nonsynonymous SNV A305T 0.277 0.273 0.34 92 325 105 0.236 100 45 16 18 13 0.046 16702 chr14 24662303 24662303 C T rs375509793 TM9SF1 Nonsynonymous SNV R173Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 21.7 16703 chr14 23899060 23899060 G A rs735712 MYH7 Synonymous SNV G354G 0.083 0.089 0.122 47 98 34 0.121 36 4 0 1 6 Benign 1.25 16704 chr14 39545199 39545199 A G rs17108797 SEC23A Synonymous SNV P309P 0.104 0.096 0.102 41 122 37 0.105 30 4 1 2 4 Benign 2.195 16705 chr16 14742400 14742400 T G rs11546303 BFAR Nonsynonymous SNV M140R 0.409 0.411 0.425 156 480 158 0.4 125 90 34 25 42 13.61 16706 chr14 24675755 24675755 A G rs34083933 TSSK4 Nonsynonymous SNV Y89C 0.009 0.018 0.003 1 10 7 0.003 1 0 0 0 0 25.2 16707 chr3 194062565 194062565 C T rs3732476 CPN2 Synonymous SNV P289P 0.67 0.659 0.728 247 786 253 0.633 214 266 83 78 85 0.403 16708 chr16 14755908 14755908 G A rs141864123 BFAR Nonsynonymous SNV V190I 0.009 0.023 0.031 6 11 9 0.015 9 0 0 0 0 0.014 16709 chr3 194063153 194063153 G A rs3732474 CPN2 Synonymous SNV F93F 0.379 0.372 0.388 154 445 143 0.395 114 89 28 24 33 0.027 16710 chr16 1484473 1484473 A G rs7192331 CCDC154 Nonsynonymous SNV L647P 0.931 0.938 0.959 366 1093 360 0.938 282 508 169 136 171 0.541 16711 chr3 194063300 194063300 T C rs62288099 CPN2 Synonymous SNV P44P 0.77 0.786 0.813 302 904 302 0.774 239 342 123 96 120 0.158 16712 chr3 194080033 194080033 C T rs73081778 LRRC15 Synonymous SNV E580E 0.032 0.023 0.037 16 38 9 0.041 11 0 0 1 1 5.247 16713 chr16 1503879 1503879 T A rs2235579 CLCN7 Synonymous SNV A366A 0.514 0.565 0.517 187 604 217 0.479 152 153 66 37 40 Benign 8.921 16714 chr3 194080336 194080336 G A rs4974533 LRRC15 Synonymous SNV P479P 0.199 0.151 0.197 67 234 58 0.172 58 19 6 9 6 0.003 16715 chr16 15129940 15129940 C T rs3198697 PDXDC1 Synonymous SNV H698H 0.433 0.419 0.418 170 508 161 0.436 123 117 36 26 44 14.19 16716 chr3 194080648 194080648 G A rs9682540 LRRC15 Synonymous SNV N375N 0.2 0.151 0.197 67 235 58 0.172 58 19 6 9 6 0.66 16717 chr16 1536372 1536372 G A rs28444604 PTX4 Synonymous SNV P330P 0.1 0.099 0.068 37 117 38 0.095 20 5 2 1 0 1.797 16718 chr14 39716201 39716201 A G rs11845046 MIA2 Nonsynonymous SNV I141M 0.272 0.253 0.289 98 319 97 0.251 85 41 13 14 11 0.009 16719 chr16 1536535 1536535 C T rs2745098 PTX4 Nonsynonymous SNV R276K 0.351 0.326 0.357 135 412 125 0.346 105 71 17 17 26 8.53 16720 chr3 194080983 194080983 C T rs13060627 LRRC15 Nonsynonymous SNV V264I 0.199 0.154 0.197 67 234 59 0.172 58 19 6 9 6 1.123 16721 chr3 157815954 157815954 G A rs146212890 SHOX2 Synonymous SNV L274L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 13.08 16722 chr16 1537839 1537839 G A rs2745101 PTX4 Nonsynonymous SNV R87W 0.239 0.224 0.235 92 280 86 0.236 69 29 11 8 10 23.7 16723 chr3 194081089 194081089 C T rs11713861 LRRC15 Synonymous SNV L228L 0.199 0.151 0.197 67 234 58 0.172 58 19 6 9 6 1.538 16724 chr3 194081635 194081635 T C rs923935 LRRC15 Synonymous SNV A46A 0.199 0.151 0.197 67 234 58 0.172 58 19 6 9 6 0.002 16725 chr16 1538363 1538363 C A rs1040499 PTX4 Nonsynonymous SNV G36C 0.365 0.331 0.374 135 428 127 0.346 110 79 17 21 26 15.21 16726 chr3 194118874 194118874 T C rs1223989 GP5 Synonymous SNV L46L 0.98 0.984 0.993 388 1151 378 0.995 292 564 186 145 193 0.88 16727 chr16 1538433 1538433 A G rs2745102 PTX4 Synonymous SNV P12P 0.252 0.232 0.259 96 296 89 0.246 76 37 13 10 10 0.042 16728 chr14 39777676 39777676 G C rs1950952 MIA2 Nonsynonymous SNV E280Q 0.595 0.589 0.207 250 699 226 0.641 61 233 74 25 82 16.36 16729 chr14 21025220 21025220 T C rs79068517 RNASE9 Synonymous SNV R3R 0.01 0.01 0.01 2 12 4 0.005 3 0 0 0 0 0.009 16730 chr3 194337901 194337901 T C rs922282 TMEM44 Nonsynonymous SNV Q237R 0.833 0.839 0.612 342 978 322 0.877 180 440 141 82 154 2.521 16731 chr16 1538464 1538464 C T rs2745103 PTX4 Nonsynonymous SNV G2E 0.252 0.227 0.262 95 296 87 0.244 77 37 11 11 10 23 16732 chr16 1544301 1544301 G C rs2667660 TELO2 Nonsynonymous SNV E7Q 0.254 0.232 0.276 94 298 89 0.241 81 38 11 12 10 0.011 16733 chr3 194338423 194338423 C T rs12695036 TMEM44 Nonsynonymous SNV R232H 0.318 0.305 0.306 146 373 117 0.374 90 62 16 11 30 8.786 16734 chr14 24775579 24775579 C T rs146737422 CIDEB 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.6 16735 chr16 1544302 1544302 A G rs2667661 TELO2 Nonsynonymous SNV E7G 0.254 0.232 0.276 94 298 89 0.241 81 38 11 12 10 0.005 16736 chr3 194349178 194349178 C T rs1563970 TMEM44 Synonymous SNV A66A 0.342 0.357 0.381 152 402 137 0.39 112 72 26 24 24 18.17 16737 chr14 35222732 35222732 C T rs61754296 BAZ1A Synonymous SNV A1519A 0.089 0.068 0.078 32 104 26 0.082 23 2 0 2 0 11.68 16738 chr14 24784911 24784911 T C rs3742511 LTB4R Synonymous SNV S18S 0.029 0.031 0.027 16 34 12 0.041 8 1 0 0 0 0.083 16739 chr3 194353875 194353875 G T rs1675955 TMEM44 Nonsynonymous SNV H24N 0.39 0.359 0.364 153 458 138 0.392 107 138 37 24 47 21.2 16740 chr14 24785784 24785784 C T rs1046584 LTB4R Synonymous SNV G309G 0.123 0.104 0.105 47 144 40 0.121 31 9 1 2 2 10.81 16741 chr16 1545448 1545448 A G rs2235624 TELO2 Nonsynonymous SNV Q146R 0.612 0.583 0.605 241 719 224 0.618 178 212 64 58 79 0.001 16742 chr3 194373832 194373832 T C rs1675953 LSG1 Nonsynonymous SNV K267E 0.703 0.661 0.639 283 825 254 0.726 188 289 84 56 100 0.313 16743 chr14 35735967 35735967 A G rs11156878 PRORP Nonsynonymous SNV N65S 0.213 0.206 0.173 98 250 79 0.251 51 26 14 5 9 24 16744 chr16 15790607 15790607 C T rs17283846 NDE1 Synonymous SNV Y279Y 0.043 0.047 0.065 8 51 18 0.021 19 1 1 0 0 Benign/Likely benign 12.9 16745 chr14 45606387 45606387 A G rs45547534 FANCM Nonsynonymous SNV I208M 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 Benign 24 16746 chr16 15811023 15811023 C T rs1050163 MYH11 Synonymous SNV L1826L 0.583 0.602 0.544 233 684 231 0.597 160 190 65 44 75 Benign/Likely benign 11.23 16747 chr3 194373833 194373833 G A rs1705991 LSG1 Synonymous SNV T266T 0.703 0.661 0.639 283 825 254 0.726 188 289 84 56 100 3.944 16748 chr16 15811062 15811062 C T rs1050162 MYH11 Synonymous SNV K1813K 0.582 0.602 0.544 233 683 231 0.597 160 189 65 44 75 Benign/Likely benign 14.25 16749 chr3 194408704 194408704 A G rs4677673 FAM43A Synonymous SNV S383S 0.627 0.604 0.622 266 736 232 0.682 183 236 72 59 91 7.438 16750 chr16 15818141 15818141 A C rs2075511 MYH11 Synonymous SNV A1414A 0.646 0.643 0.595 261 758 247 0.669 175 235 77 52 94 Benign 0.91 16751 chr14 50092471 50092471 T C rs9989177 DNAAF2 Nonsynonymous SNV D720G 0.519 0.5 0.486 223 609 192 0.572 143 165 43 37 61 Benign 22.9 16752 chr14 36153177 36153177 T C rs2274068 RALGAPA1 Nonsynonymous SNV T1390A 0.221 0.276 0.252 92 260 106 0.236 74 31 16 9 12 1.797 16753 chr3 195479256 195479256 T C rs2258447 MUC4 Synonymous SNV E903E 0.943 0.951 0.915 370 1107 365 0.949 269 522 173 122 175 0.012 16754 chr16 15931819 15931819 G A rs113363750 MYH11 Synonymous SNV N97N 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign/Likely benign 5.351 16755 chr3 195489009 195489009 C A rs2246901 MUC4 Nonsynonymous SNV A534S 0.718 0.701 0.677 269 843 269 0.69 199 310 97 72 95 22.9 16756 chr16 16138322 16138322 T C rs246221 ABCC1 Synonymous SNV V275V 0.354 0.341 0.398 139 416 131 0.356 117 60 24 20 26 0.012 16757 chr14 50100386 50100386 T C rs2985687 DNAAF2 Synonymous SNV T494T 0.725 0.747 0.718 295 851 287 0.756 211 313 110 77 111 Benign 0.659 16758 chr14 36191030 36191030 A G rs2296168 RALGAPA1 Synonymous SNV V710V 0.06 0.083 0.058 18 70 32 0.046 17 1 0 0 0 6.853 16759 chr16 16139714 16139714 T C rs35587 ABCC1 Synonymous SNV N354N 0.348 0.341 0.388 138 408 131 0.354 114 59 24 19 25 0.008 16760 chr16 16162019 16162019 T C rs35605 ABCC1 Synonymous SNV L562L 0.766 0.758 0.782 287 899 291 0.736 230 355 112 91 109 0.02 16761 chr14 36232026 36232026 G A rs17103516 SNORA101B 0.055 0.07 0.02 16 64 27 0.041 6 2 0 0 0 20.8 16762 chr14 50100683 50100683 C G rs2985686 DNAAF2 Synonymous SNV A395A 0.73 0.745 0.714 297 857 286 0.762 210 318 111 79 113 Benign 12.77 16763 chr16 16177275 16177275 G A rs4148356 ABCC1 Nonsynonymous SNV R723Q 0.007 0.003 0.014 0 8 1 0 4 0 0 0 0 Uncertain significance 0.43 16764 chr3 195489067 195489067 C G rs2246980 MUC4 Synonymous SNV S514S 0.438 0.414 0.395 159 514 159 0.408 116 110 29 27 35 11.19 16765 chr14 50101370 50101370 G A rs2985685 DNAAF2 Synonymous SNV A166A 0.722 0.747 0.714 294 848 287 0.754 210 310 110 77 111 Benign 1.847 16766 chr3 195495916 195495916 G C rs2550240 MUC4 Nonsynonymous SNV N215K 0.42 0.409 0.429 161 493 157 0.413 126 99 30 26 38 3.732 16767 chr16 16228242 16228242 G A rs2230671 ABCC1 Synonymous SNV S1334S 0.212 0.221 0.204 72 249 85 0.185 60 20 10 5 6 6.703 16768 chr14 50101682 50101682 C G rs2985684 DNAAF2 Nonsynonymous SNV E62D 0.723 0.747 0.714 294 849 287 0.754 210 311 110 76 111 Benign 23.4 16769 chr16 16251599 16251599 C T rs2238472 ABCC6 Nonsynonymous SNV R1268Q 0.182 0.193 0.211 67 214 74 0.172 62 15 8 5 6 Benign 23 16770 chr3 195497174 195497174 C G rs2259102 MUC4 Nonsynonymous SNV M150I 0.879 0.872 0.861 338 1032 335 0.867 253 453 145 110 145 0.051 16771 chr16 16271357 16271357 T C rs6416668 ABCC6 Nonsynonymous SNV M848V 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.003 16772 chr3 195501149 195501149 C T rs2259292 MUC4 Nonsynonymous SNV G37D 0.605 0.578 0.595 220 710 222 0.564 175 210 60 53 61 14.7 16773 chr3 164793758 164793758 C A rs9290264 SI Nonsynonymous SNV V15F 0.22 0.224 0.265 88 258 86 0.226 78 28 17 9 6 Benign 26.9 16774 chr14 50272841 50272841 G T rs77376853 NEMF Synonymous SNV I564I 0.016 0.034 0.034 10 19 13 0.026 10 1 0 0 0 11.25 16775 chr14 36947081 36947081 C T rs12435251 SFTA3 0.268 0.292 0.313 114 315 112 0.292 92 48 16 20 18 1.721 16776 chr14 20711811 20711811 A G rs17277263 OR11H4 Synonymous SNV V287V 0.026 0.031 0.024 12 30 12 0.031 7 0 0 0 2 0.024 16777 chr16 16272670 16272670 T C rs7500834 ABCC6 Synonymous SNV G800G 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.091 16778 chr3 195505664 195505664 G A rs2688513 MUC4 Nonsynonymous SNV P4263S 0.88 0.878 0.867 339 1033 337 0.869 255 454 147 112 146 0.16 16779 chr14 37180685 37180685 T C rs17105087 SLC25A21 Synonymous SNV Q147Q 0.114 0.089 0.099 49 134 34 0.126 29 10 1 0 3 1.451 16780 chr16 16278863 16278863 G T rs8058694 ABCC6 Nonsynonymous SNV H632Q 0.365 0.378 0.456 148 428 145 0.379 134 74 36 26 31 Benign 0.003 16781 chr3 167000256 167000256 G C rs12638625 ZBBX Nonsynonymous SNV A607G 0.264 0.242 0.418 95 310 93 0.244 123 89 26 23 23 12.81 16782 chr14 37641659 37641659 G C rs1057564 SLC25A21-AS1 0.041 0.042 0.031 16 48 16 0.041 9 0 0 0 0 9.631 16783 chr3 195515568 195515568 C T rs62282504 MUC4 Synonymous SNV G961G 0.264 0.26 0.286 109 310 100 0.279 84 45 7 13 18 6.492 16784 chr16 16278869 16278869 G C rs8058696 ABCC6 Synonymous SNV T630T 0.362 0.372 0.452 148 425 143 0.379 133 74 36 26 31 Benign 0.043 16785 chr3 167023493 167023493 C T rs35864545 ZBBX Nonsynonymous SNV E555K 0.181 0.141 0.218 70 212 54 0.179 64 20 3 5 8 15.43 16786 chr3 195515594 195515594 C G rs13095016 MUC4 Nonsynonymous SNV E953Q 0.841 0.846 0.847 314 987 325 0.805 249 421 139 106 127 1.212 16787 chr14 38061742 38061742 C T rs7144658 FOXA1 Nonsynonymous SNV A83T 0.57 0.555 0.585 234 669 213 0.6 172 198 58 47 70 21.2 16788 chr16 16281007 16281007 A G rs12931472 ABCC6 Nonsynonymous SNV V614A 0.369 0.401 0.456 145 433 154 0.372 134 77 38 24 30 Benign 0.058 16789 chr14 20823052 20823052 G A rs3093926 PARP2 Nonsynonymous SNV R283Q 0.078 0.086 0.085 27 91 33 0.069 25 6 1 1 0 23.2 16790 chr3 195515617 195515617 G C rs2641776 MUC4 Nonsynonymous SNV T945S 0.944 0.948 0.942 363 1108 364 0.931 277 528 173 131 172 0.002 16791 chr3 167023624 167023624 A G rs35190925 ZBBX Nonsynonymous SNV I511T 0.182 0.148 0.218 70 214 57 0.179 64 20 3 5 8 5.742 16792 chr16 16291971 16291971 C T rs9940825 ABCC6 Synonymous SNV V415V 0.279 0.302 0.323 107 328 116 0.274 95 42 15 14 10 Benign 10.05 16793 chr14 50616878 50616878 G A rs2229869 SOS2 Synonymous SNV N744N 0.681 0.69 0.714 252 799 265 0.646 210 275 91 70 85 Benign 8.987 16794 chr16 16291983 16291983 A G rs9930886 ABCC6 Synonymous SNV N411N 0.284 0.307 0.333 108 333 118 0.277 98 43 15 14 10 Likely benign 0.009 16795 chr3 195516630 195516630 G T rs3103954 MUC4 Synonymous SNV S607S 0.877 0.87 0.864 334 1030 334 0.856 254 450 144 111 141 0.118 16796 chr3 167051726 167051726 A G rs10936530 ZBBX Synonymous SNV F192F 0.409 0.378 0.418 152 480 145 0.39 123 101 28 26 30 0.034 16797 chr16 1664931 1664931 T C rs7201813 CRAMP1 Synonymous SNV D97D 0.432 0.411 0.347 165 507 158 0.423 102 114 43 22 32 0.007 16798 chr14 39517925 39517925 T C rs11556216 SEC23A Synonymous SNV K556K 0.21 0.156 0.201 67 246 60 0.172 59 42 5 4 6 10.39 16799 chr3 195516878 195516878 T C rs2177336 MUC4 Nonsynonymous SNV T525A 0.871 0.862 0.847 332 1023 331 0.851 249 444 141 107 139 0.005 16800 chr16 17232391 17232391 G A rs201818754 LOC102723692 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 9.869 16801 chr16 17292074 17292074 G C rs28709752 XYLT1 Synonymous SNV P428P 0.147 0.159 0.133 48 172 61 0.123 39 12 4 3 2 7.052 16802 chr3 167506937 167506937 C G rs33917740 SERPINI1 Nonsynonymous SNV F7L 0.074 0.089 0.082 30 87 34 0.077 24 6 2 1 1 Benign 8.458 16803 chr3 195517258 195517258 G A rs1106502 MUC4 Nonsynonymous SNV T398I 0.871 0.862 0.847 332 1023 331 0.851 249 444 141 107 139 1.034 16804 chr16 1812972 1812972 G C rs2294616 MAPK8IP3 Synonymous SNV S614S 0.111 0.146 0.112 34 130 56 0.087 33 6 6 2 1 9.698 16805 chr16 1814391 1814391 T C rs2294618 MAPK8IP3 Synonymous SNV D730D 0.108 0.143 0.109 34 127 55 0.087 32 6 6 2 1 0.154 16806 chr3 195517321 195517321 G A rs1104760 MUC4 Nonsynonymous SNV T377I 0.871 0.862 0.847 332 1023 331 0.851 249 444 141 107 139 0.07 16807 chr3 167506967 167506967 A G rs34582040 SERPINI1 Synonymous SNV T17T 0.074 0.089 0.082 30 87 34 0.077 24 6 2 1 1 Benign 0.006 16808 chr16 1814440 1814440 A G rs2294619 MAPK8IP3 Nonsynonymous SNV T747A 0.199 0.198 0.17 78 234 76 0.2 50 28 7 5 7 0.001 16809 chr3 167510472 167510472 G A rs2229697 SERPINI1 Synonymous SNV S192S 0.074 0.089 0.082 29 87 34 0.074 24 6 2 1 1 Benign 12.58 16810 chr3 195517553 195517553 A C rs882605 MUC4 Nonsynonymous SNV F300V 0.871 0.862 0.847 332 1023 331 0.851 249 444 141 107 139 0.003 16811 chr16 1818503 1818503 G C rs2076431 MAPK8IP3 Synonymous SNV G1249G 0.839 0.818 0.833 322 985 314 0.826 245 410 130 100 133 0.063 16812 chr16 1820992 1820992 T A rs11890 NME3 Synonymous SNV V94V 0.842 0.82 0.833 325 989 315 0.833 245 414 131 100 136 7.542 16813 chr14 50910675 50910675 C G rs35768475 MAP4K5 Nonsynonymous SNV K473N 0.032 0.016 0.041 12 37 6 0.031 12 0 0 0 0 25.2 16814 chr3 195518112 195518112 - GTCTCCTGCGTAACA rs142781032 MUC4, MUC4 T113_A114insVTQET 0.852 0.846 0.83 326 1000 325 0.836 244 422 138 103 134 16815 chr16 1823024 1823024 G T rs11552431 MRPS34 Nonsynonymous SNV L33I 0.093 0.112 0.092 28 109 43 0.072 27 4 2 0 2 Benign 21.4 16816 chr3 195518330 195518330 C G rs3107764 MUC4 Nonsynonymous SNV A41P 0.655 0.646 0.639 243 769 248 0.623 188 255 73 62 73 0.001 16817 chr16 1823390 1823390 G - rs377074694 EME2 G55Vfs*19 0.028 0.021 0.034 14 33 8 0.036 10 0 0 0 0 16818 chr3 195938177 195938177 A G rs1522394 ZDHHC19 Synonymous SNV L4L 0.21 0.247 0.167 77 246 95 0.197 49 27 6 5 7 0.018 16819 chr14 51202311 51202311 G C rs2295847 NIN Nonsynonymous SNV Q1221E 0.101 0.068 0.095 36 118 26 0.092 28 6 1 1 1 Benign 22.9 16820 chr16 1827836 1827836 T C rs1178432 SPSB3 Synonymous SNV S211S 0.842 0.841 0.881 329 989 323 0.844 259 418 134 112 138 2.365 16821 chr3 195955762 195955762 G A rs939885 SLC51A Nonsynonymous SNV V202I 0.48 0.471 0.585 204 563 181 0.523 172 125 43 53 54 11.92 16822 chr16 1838037 1838037 C G rs2272977 NUBP2 Synonymous SNV T54T 0.107 0.122 0.109 31 126 47 0.079 32 6 2 2 3 13 16823 chr14 31782395 31782395 A G rs200169128 HEATR5A Nonsynonymous SNV V1407A 0.009 0.013 0 0 10 5 0 0 0 0 0 0 24.6 16824 chr16 1838640 1838640 T C rs344359 NUBP2 Nonsynonymous SNV W99R 0.813 0.805 0.864 321 955 309 0.823 254 387 122 107 130 0.14 16825 chr3 195956827 195956827 T C rs17852687 SLC51A Synonymous SNV L225L 0.422 0.443 0.49 166 495 170 0.426 144 105 40 37 31 0.007 16826 chr16 1838781 1838781 A G rs11540963 NUBP2 Nonsynonymous SNV R146G 0.085 0.099 0.058 28 100 38 0.072 17 5 1 0 0 0.387 16827 chr16 1842209 1842209 A G rs3751893 IGFALS Synonymous SNV D108D 0.814 0.807 0.857 320 956 310 0.821 252 390 122 105 129 Benign 0.002 16828 chr3 196054439 196054439 T G rs6785339 TM4SF19 Nonsynonymous SNV Q8P 0.618 0.656 0.622 240 726 252 0.615 183 212 84 56 68 1.179 16829 chr14 23240522 23240522 A G rs151207820 OXA1L Nonsynonymous SNV Q383R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.005 16830 chr16 1859432 1859432 G C rs1628812 HAGH Synonymous SNV S281S 0.786 0.771 0.816 299 923 296 0.767 240 361 114 96 114 0.131 16831 chr14 39784005 39784006 TA - rs75318507 MIA2 0.162 0.164 0.119 56 190 63 0.144 35 52 16 11 14 16832 chr16 1877698 1877698 C G rs3743852 FAHD1 Synonymous SNV L156L 0.13 0.143 0.143 40 153 55 0.103 42 10 2 3 3 1.554 16833 chr3 196199204 196199204 G T rs3796129 RNF168 Nonsynonymous SNV P401Q 0.6 0.599 0.517 209 704 230 0.536 152 219 69 40 61 Benign 16.54 16834 chr16 18823379 18823379 T C rs2606556 SMG1 Synonymous SNV Q3564Q 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 13.07 16835 chr3 170819350 170819350 T C rs368910931 TNIK Nonsynonymous SNV T735A 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 22.8 16836 chr16 188304 188335 GAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT - rs778911662 NPRL3 0.109 0.047 0.204 42 128 18 0.108 60 59 8 21 19 16837 chr16 18839362 18839362 T C rs12445870 SMG1 Synonymous SNV A3244A 0.415 0.406 0.344 168 487 156 0.431 101 117 28 17 40 9.09 16838 chr3 196281208 196281208 T C rs9311 WDR53 Synonymous SNV P156P 0.497 0.56 0.473 179 583 215 0.459 139 142 56 34 42 1.193 16839 chr3 170819373 170819373 G T rs749170308 TNIK Nonsynonymous SNV T727K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.3 16840 chr16 18861335 18861335 A G rs2650613 SMG1 Synonymous SNV H1799H 0.625 0.602 0.571 234 734 231 0.6 168 232 70 49 75 0.265 16841 chr3 196386964 196386964 C G rs1798631 NRROS Synonymous SNV A150A 0.794 0.786 0.803 310 932 302 0.795 236 368 116 96 123 9.259 16842 chr16 19041595 19041595 G A rs4072393 TMC7 Nonsynonymous SNV G144E 0.671 0.638 0.643 257 788 245 0.659 189 266 75 62 86 13.17 16843 chr14 51224658 51224658 T A rs2073348 NIN Synonymous SNV S1030S 0.303 0.284 0.276 102 356 109 0.262 81 53 18 11 10 Likely benign 0.194 16844 chr3 196460680 196460680 C T rs34830136 PIGX Synonymous SNV T228T 0.248 0.247 0.228 100 291 95 0.256 67 48 7 5 10 10.52 16845 chr14 21831652 21831652 G C rs61739513 SUPT16H Nonsynonymous SNV A415G 0.006 0.003 0.003 7 7 1 0.018 1 0 0 0 0 22.8 16846 chr14 31856396 31856398 AAG - rs142429257 HEATR5A L373del 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 16847 chr3 196613075 196613075 C T rs34533379 SENP5 Synonymous SNV D341D 0.246 0.263 0.262 103 289 101 0.264 77 35 12 10 15 9.445 16848 chr16 19067933 19067933 G A rs17854511 TMC7 Synonymous SNV T305T 0.671 0.648 0.629 252 788 249 0.646 185 261 77 61 81 13.73 16849 chr14 33004975 33004975 G A rs35436895 AKAP6 Synonymous SNV T180T 0.074 0.068 0.092 20 87 26 0.051 27 3 0 0 0 14.52 16850 chr14 51225097 51225097 T C rs41299191 NIN Nonsynonymous SNV K884R 0.039 0.047 0.065 16 46 18 0.041 19 1 0 0 0 Likely benign 10.06 16851 chr14 44975511 44975511 G A rs45478391 FSCB Nonsynonymous SNV P227L 0.138 0.161 0.177 58 162 62 0.149 52 14 4 3 4 0.002 16852 chr3 196674259 196674259 G A rs61179255 PIGZ Synonymous SNV T503T 0.201 0.185 0.18 69 236 71 0.177 53 24 5 4 4 0.206 16853 chr16 19079037 19079037 G A rs17357834 COQ7 Synonymous SNV P17P 0.112 0.128 0.167 59 132 49 0.151 49 8 3 3 6 Benign 10.86 16854 chr14 21866026 21866026 T C rs61752837 CHD8 Synonymous SNV A1669A 0.012 0.003 0.027 9 14 1 0.023 8 0 0 0 0 Benign 7.645 16855 chr14 33014869 33014869 C T rs3742926 AKAP6 Nonsynonymous SNV A337V 0.119 0.099 0.105 28 140 38 0.072 31 10 1 0 1 0.003 16856 chr3 196674518 196674518 A G rs1147238 PIGZ Nonsynonymous SNV V417A 0.153 0.156 0.184 68 180 60 0.174 54 11 2 5 2 7.253 16857 chr16 19080184 19080184 C T rs4630530 COQ7 Synonymous SNV C5C 0.44 0.456 0.599 173 517 175 0.444 176 209 66 55 65 1.963 16858 chr14 51225132 51225132 G T rs2073349 NIN Synonymous SNV A872A 0.363 0.354 0.337 128 426 136 0.328 99 75 25 18 19 Likely benign 4.642 16859 chr14 45644589 45644589 G T rs1367580 FANCM Nonsynonymous SNV V852L 0.1 0.128 0.122 58 117 49 0.149 36 4 1 2 4 Benign 0.003 16860 chr16 19085298 19085298 C T rs11074359 COQ7 Nonsynonymous SNV T65M 0.68 0.651 0.646 257 798 250 0.659 190 271 77 60 86 Benign 27.9 16861 chr3 196674749 196674749 C T rs4916589 PIGZ Nonsynonymous SNV R340Q 0.562 0.578 0.636 211 660 222 0.541 187 185 66 57 53 8.523 16862 chr14 51237701 51237701 A G rs17793018 NIN Synonymous SNV V376V 0.519 0.521 0.497 183 609 200 0.469 146 164 52 36 44 Likely benign 10.03 16863 chr16 1912021 1912021 T G rs1657125 MEIOB Nonsynonymous SNV K75T 0.13 0.141 0.146 44 153 54 0.113 43 10 1 3 4 13.75 16864 chr14 33015082 33015082 A G rs17099240 AKAP6 Nonsynonymous SNV N408S 0.119 0.099 0.105 28 140 38 0.072 31 10 1 0 1 0.001 16865 chr14 45650900 45650900 A G rs78211950 FANCM Nonsynonymous SNV I1434V 0.074 0.086 0.051 47 87 33 0.121 15 4 1 2 4 Benign 1.267 16866 chr14 45665468 45665468 C G rs3736772 FANCM Nonsynonymous SNV P1786A 0.083 0.099 0.133 48 98 38 0.123 39 4 1 3 4 Benign/Likely benign 6.657 16867 chr16 19125945 19125945 C T rs759706617 ITPRIPL2 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 16868 chr3 196674879 196674879 A G rs12636891 PIGZ Synonymous SNV L297L 0.394 0.411 0.469 169 462 158 0.433 138 85 28 34 37 1.189 16869 chr14 33015397 33015397 G T rs45477296 AKAP6 Nonsynonymous SNV R513L 0.085 0.073 0.085 19 100 28 0.049 25 6 0 0 0 12.92 16870 chr16 1918125 1918125 T G rs1742446 MEIOB Nonsynonymous SNV T18P 0.847 0.82 0.871 336 994 315 0.862 256 420 128 111 144 2.335 16871 chr3 196674972 196674972 C T rs574365 PIGZ Nonsynonymous SNV A266T 0.726 0.74 0.793 277 852 284 0.71 233 309 109 94 97 0.27 16872 chr16 19195130 19195130 C T rs11541511 SYT17 Synonymous SNV R200R 0.151 0.143 0.18 45 177 55 0.115 53 18 2 5 1 16.73 16873 chr14 45696037 45696037 T G rs34101857 MIS18BP1 Nonsynonymous SNV E583D 0.072 0.089 0.014 45 85 34 0.115 4 0 1 2 3 21.5 16874 chr3 196674973 196674973 T C rs573708 PIGZ Synonymous SNV A265A 0.727 0.74 0.793 278 853 284 0.713 233 310 109 94 98 0.002 16875 chr16 19547357 19547357 A G rs10492785 CCP110 Synonymous SNV T122T 0.071 0.102 0.092 33 83 39 0.085 27 2 3 0 3 Benign 0.201 16876 chr16 19547503 19547503 C T rs3751821 CCP110 Nonsynonymous SNV P171L 0.071 0.102 0.092 34 83 39 0.087 27 2 3 0 3 Benign 0.348 16877 chr3 196742290 196742290 T C rs9855410 MELTF Synonymous SNV P393P 0.256 0.234 0.18 112 301 90 0.287 53 30 10 5 16 0.002 16878 chr14 51492054 51492054 C T rs187663639 TRIM9 Nonsynonymous SNV G283R 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 23.9 16879 chr14 45711594 45711594 T C rs1266209 MIS18BP1 Synonymous SNV K262K 0.093 0.122 0.136 56 109 47 0.144 40 0 1 3 3 0.764 16880 chr3 196743130 196743130 T C rs6779362 MELTF Synonymous SNV T337T 0.272 0.25 0.235 112 319 96 0.287 69 34 12 8 15 0.077 16881 chr14 22038162 22038162 A C rs17197261 OR10G3 Synonymous SNV A238A 0.106 0.094 0.119 25 124 36 0.064 35 5 1 1 1 0.004 16882 chr16 19547747 19547747 C G rs226891 CCP110 Nonsynonymous SNV I252M 0.917 0.896 0.912 361 1076 344 0.926 268 492 155 121 167 Benign 0.001 16883 chr14 50074122 50074122 T A rs17121605 LRR1 Nonsynonymous SNV I96N 0.202 0.24 0.228 70 237 92 0.179 67 23 9 3 8 10.43 16884 chr3 196746629 196746629 T C rs1056664 MELTF Synonymous SNV E252E 0.261 0.253 0.201 108 307 97 0.277 59 32 10 4 15 1.012 16885 chr16 19548152 19548152 T C rs179050 CCP110 Synonymous SNV H387H 0.106 0.104 0.105 31 124 40 0.079 31 2 2 1 2 0.414 16886 chr3 196865242 196865242 C T rs1134986 DLG1 Nonsynonymous SNV R162Q 0.179 0.164 0.224 77 210 63 0.197 66 20 6 7 7 24.2 16887 chr14 50074520 50074520 C T rs7148147 LRR1 Nonsynonymous SNV R229W 0.205 0.242 0.228 71 241 93 0.182 67 23 9 3 8 32 16888 chr16 1961674 1961674 G C rs337285 HS3ST6 Nonsynonymous SNV L316V 0.569 0.581 0.558 229 668 223 0.587 164 187 70 43 68 0.001 16889 chr14 23567013 23567013 G A rs761202050 C14orf119 Stop gain W49X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 39 16890 chr14 34269138 34269138 C T NPAS3 Nonsynonymous SNV A512V 0.004 0 0 4 5 0 0.01 0 0 0 0 0 26.2 16891 chr3 196921360 196921360 T C rs1802668 DLG1 Nonsynonymous SNV K140R 0.052 0.049 0.041 22 61 19 0.056 12 1 1 0 1 16.47 16892 chr14 50085571 50085571 G A rs1054427 RPL36AL Synonymous SNV A84A 0.204 0.245 0.184 71 240 94 0.182 54 23 10 3 8 12.59 16893 chr14 52186972 52186972 A G rs2277494 FRMD6 Synonymous SNV P50P 0.243 0.281 0.272 95 285 108 0.244 80 31 20 13 14 0.009 16894 chr16 1962046 1962046 C T rs1742399 HS3ST6 Nonsynonymous SNV A192T 0.339 0.362 0.31 125 398 139 0.321 91 69 26 13 24 14.8 16895 chr14 21215923 21215923 G T rs34552133 EDDM3A Nonsynonymous SNV G62C 0.108 0.094 0.119 30 127 36 0.077 35 7 2 1 1 22.7 16896 chr14 34269167 34269167 G C rs12434716 NPAS3 Nonsynonymous SNV A522P 0.141 0.148 0.139 53 165 57 0.136 41 8 6 5 4 14.69 16897 chr14 52478315 52478315 A G rs1051069 NID2 Synonymous SNV A1169A 0.554 0.57 0.561 225 650 219 0.577 165 187 59 45 67 3.272 16898 chr3 175345143 175345143 C G rs9866564 NAALADL2 Nonsynonymous SNV P622R 0.685 0.719 0.741 267 804 276 0.685 218 310 105 84 98 24.7 16899 chr3 197495334 197495334 G A rs3205525 FYTTD1 Nonsynonymous SNV R87H 0.816 0.836 0.816 315 958 321 0.808 240 391 132 101 129 22.9 16900 chr16 1962047 1962047 G A rs1657140 HS3ST6 Synonymous SNV Y191Y 0.339 0.362 0.31 125 398 139 0.321 91 69 26 13 24 2.671 16901 chr14 52496275 52496275 C A rs12887495 NID2 Synonymous SNV R797R 0.141 0.107 0.133 63 165 41 0.162 39 8 2 1 4 11.93 16902 chr14 35872926 35872926 G A rs1050851 NFKBIA Synonymous SNV A102A 0.193 0.237 0.218 82 226 91 0.21 64 19 11 7 8 Benign 11.16 16903 chr14 23746269 23746269 C G rs1057119 HOMEZ Synonymous SNV T56T 0.215 0.245 0.265 90 252 94 0.231 78 32 10 12 13 9.292 16904 chr16 1962132 1962132 G A rs8055325 HS3ST6 Nonsynonymous SNV A163V 0.344 0.38 0.32 126 404 146 0.323 94 70 31 14 24 14.75 16905 chr3 197566254 197566254 T C rs17850206 LRCH3 Synonymous SNV Y438Y 0.348 0.315 0.327 131 409 121 0.336 96 65 25 21 22 0.044 16906 chr3 197765432 197765432 C T rs73091377 LMLN-AS1 0.089 0.104 0.092 22 104 40 0.056 27 2 3 0 2 3.593 16907 chr4 351741 351741 T C rs6819237 ZNF141 Synonymous SNV T92T 0.112 0.086 0 52 132 33 0.133 0 52 14 0 21 2.13 16908 chr16 19718333 19718333 A C rs200976200 KNOP1 Nonsynonymous SNV W403G 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 25.9 16909 chr4 437831 437831 C T rs72501950 ZNF721 Nonsynonymous SNV R142H 0.13 0.122 0.078 48 153 47 0.123 23 15 2 0 2 21.8 16910 chr14 35592538 35592538 C G rs941653 PRORP Synonymous SNV V29V 0.163 0.151 0.177 50 191 58 0.128 52 6 6 4 4 3.932 16911 chr14 23848563 23848563 G A rs150499732 CMTM5 Nonsynonymous SNV R61Q 0.016 0.026 0.024 5 19 10 0.013 7 0 0 0 0 19.5 16912 chr16 19726275 19726275 C T rs11640454 KNOP1 Nonsynonymous SNV R28Q 0.121 0.138 0.129 56 142 53 0.144 38 10 3 3 0 6.895 16913 chr14 21250212 21250212 T C rs34972223 RNASE6 Synonymous SNV A118A 0.057 0.065 0.058 15 67 25 0.038 17 1 1 0 0 0.176 16914 chr14 35747918 35747918 C T rs17103147 PSMA6 Nonsynonymous SNV R5W 0.048 0.057 0.044 14 56 22 0.036 13 0 0 0 1 17.38 16915 chr4 515489 515489 G A rs13115344 PIGG Nonsynonymous SNV R325H 0.146 0.148 0.136 61 171 57 0.156 40 13 6 1 2 1.269 16916 chr14 50131846 50131846 G T rs3218791 POLE2 Synonymous SNV V178V 0.175 0.201 0.119 65 206 77 0.167 35 21 8 4 7 9.456 16917 chr14 22138547 22138547 A C rs12883831 OR4E1 Nonsynonymous SNV I201S 0.121 0.125 0 41 142 48 0.105 0 7 2 0 2 8.855 16918 chr16 19800213 19800213 T C rs7191155 IQCK Nonsynonymous SNV L132P 0.221 0.232 0.197 95 260 89 0.244 58 31 14 7 10 23.4 16919 chr4 515844 515844 C A rs13136656 PIGG Nonsynonymous SNV R561S 0.141 0.143 0.126 60 165 55 0.154 37 13 6 1 2 3.799 16920 chr14 23859610 23859610 C T rs28730771 MYH6 Nonsynonymous SNV A1130T 0.106 0.115 0.15 63 124 44 0.162 44 5 1 3 2 Benign 25.4 16921 chr4 517376 517376 T C rs7666226 PIGG Synonymous SNV L448L 0.15 0.154 0.139 63 176 59 0.162 41 16 7 1 2 0.005 16922 chr14 52508842 52508842 C A rs61747585 NID2 Nonsynonymous SNV E602D 0.041 0.042 0.058 16 48 16 0.041 17 2 0 0 0 24.6 16923 chr16 19883364 19883364 G A rs61742688 GPRC5B Synonymous SNV N399N 0.141 0.143 0.109 53 166 55 0.136 32 8 4 2 5 8.853 16924 chr4 517461 517461 T C rs7666425 PIGG Nonsynonymous SNV C477R 0.15 0.154 0.139 63 176 59 0.162 41 16 7 1 2 0.014 16925 chr16 20043330 20043330 T C rs2147865 GPR139 Synonymous SNV V263V 0.286 0.305 0.357 108 336 117 0.277 105 56 11 20 11 0.295 16926 chr16 2014283 2014283 A G rs2286466 RPS2 Synonymous SNV P87P 0.744 0.708 0.803 298 873 272 0.764 236 326 94 94 112 0.053 16927 chr16 2015477 2015477 C G SNHG9 0 0 0.003 0 0 0 0 1 0 0 0 0 2.174 16928 chr4 517622 517622 C T rs13150531 PIGG Synonymous SNV A530A 0.151 0.154 0.139 63 177 59 0.162 41 17 7 1 2 17.58 16929 chr16 20359633 20359633 C T rs28544423 UMOD Synonymous SNV G295G 0.135 0.169 0.184 70 158 65 0.179 54 10 1 4 4 Benign 13.59 16930 chr14 23886409 23886409 G C rs3729823 MYH7 Nonsynonymous SNV S1491C 0.015 0.013 0.014 13 18 5 0.033 4 0 0 0 0 Benign 22.6 16931 chr4 520853 520853 G A rs13114026 PIGG Nonsynonymous SNV V566I 0.149 0.154 0.105 59 175 59 0.151 31 16 7 1 2 0.864 16932 chr16 20359831 20359831 C T rs13335818 UMOD Synonymous SNV V264V 0.132 0.169 0.18 69 155 65 0.177 53 10 1 4 4 Benign 12.2 16933 chr3 179310468 179310468 C T rs369744911 MRPL47 Nonsynonymous SNV R88Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 34 16934 chr16 20360101 20360101 G A rs7193058 UMOD Synonymous SNV C174C 0.718 0.677 0.663 271 843 260 0.695 195 307 83 63 91 Benign 1.23 16935 chr14 50796881 50796881 G C rs9323183 CDKL1 Nonsynonymous SNV L273V 0.081 0.086 0.061 43 95 33 0.11 18 4 1 0 1 25.6 16936 chr14 52520746 52520746 G T rs35657569 NID2 Nonsynonymous SNV P354H 0.091 0.083 0.082 28 107 32 0.072 24 3 1 0 2 12.21 16937 chr16 20386162 20386162 G A rs78751740 PDILT Synonymous SNV S221S 0.013 0.029 0.024 10 15 11 0.026 7 0 0 0 0 10.61 16938 chr4 527677 527677 T C rs34623004 PIGG Nonsynonymous SNV I748T 0.143 0.146 0.126 56 168 56 0.144 37 11 6 2 2 14 16939 chr14 36942909 36942909 A T rs7159699 SFTA3 0.06 0.065 0.054 10 70 25 0.026 16 3 1 0 1 10.39 16940 chr16 20410488 20410488 G A rs7185940 PDILT Synonymous SNV L45L 0.307 0.328 0.33 123 361 126 0.315 97 55 17 17 22 4.82 16941 chr14 51223367 51223367 A C rs367935214 NIN Nonsynonymous SNV L1461V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.9 16942 chr16 20410547 20410547 C T rs9926580 PDILT Nonsynonymous SNV A26T 0.307 0.328 0.33 123 361 126 0.315 97 55 17 17 22 0.352 16943 chr14 38277999 38277999 C T rs4901284 TTC6 Nonsynonymous SNV T140I 0.369 0.346 0.401 147 433 133 0.377 118 74 27 22 22 16.75 16944 chr4 533001 533001 T C rs1127410 PIGG Nonsynonymous SNV F799S 0.143 0.146 0.129 56 168 56 0.144 38 11 6 2 2 14.43 16945 chr14 24003791 24003791 C T rs1010024193 ZFHX2 Synonymous SNV K248K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.196 16946 chr16 2059622 2059622 C - rs11366527 ZNF598 1 1 0.949 389 1174 384 0.997 279 587 192 139 194 16947 chr16 2059674 2059674 T C rs71384660 ZNF598 Nonsynonymous SNV E25G 1 1 0.942 389 1174 384 0.997 277 587 192 138 194 4.584 16948 chr4 648643 648643 G A rs10902758 PDE6B Nonsynonymous SNV V41I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 12.88 16949 chr16 2059698 2059698 T G rs71384661 ZNF598 Nonsynonymous SNV E17A 0.993 1 0.939 389 1166 384 0.997 276 583 192 137 194 0.011 16950 chr4 663908 663908 A G rs28675771 PDE6B Nonsynonymous SNV M453V 0.665 0.68 0.622 234 781 261 0.6 183 258 88 56 69 Benign 2.844 16951 chr14 52907353 52907353 C T rs1952254 TXNDC16 Synonymous SNV Q639Q 0.362 0.38 0.367 134 425 146 0.344 108 75 32 21 21 0.729 16952 chr16 2059708 2059708 T G rs71384662 ZNF598 Nonsynonymous SNV M14L 0.988 1 0.942 389 1160 384 0.997 277 580 192 138 194 0.013 16953 chr4 673772 673772 C T rs61748885 MYL5 Nonsynonymous SNV T86I 0.014 0.016 0.003 7 17 6 0.018 1 0 0 0 0 27.5 16954 chr16 2059710 2059710 T G rs71384663 ZNF598 Nonsynonymous SNV D13A 0.988 1 0.942 389 1160 384 0.997 277 580 192 138 194 0.123 16955 chr14 24546566 24546566 T C rs117606853 CPNE6 Synonymous SNV I501I 0.033 0.039 0.058 14 39 15 0.036 17 0 1 0 0 0.844 16956 chr4 843508 843508 C T rs1134921 GAK Nonsynonymous SNV D1218N 0.095 0.083 0.075 31 112 32 0.079 22 5 1 0 2 25.1 16957 chr16 2059737 2059737 G - rs71148116 ZNF598 0.894 0.862 0.908 332 1050 331 0.851 267 525 165 133 165 16958 chr14 23517629 23517629 C T rs138543733 CDH24 Nonsynonymous SNV E636K 0.003 0 0 0 4 0 0 0 0 0 0 0 26.9 16959 chr16 20810067 20810067 T C rs3213646 ERI2 Nonsynonymous SNV Y352C 0.53 0.555 0.456 207 622 213 0.531 134 169 55 30 58 0.303 16960 chr4 843695 843695 A G rs8093 GAK Synonymous SNV A1194A 0.673 0.685 0.738 285 790 263 0.731 217 269 90 82 109 0.003 16961 chr4 844781 844781 G A rs75072999 GAK Synonymous SNV T1121T 0.071 0.068 0.078 33 83 26 0.085 23 4 0 1 2 11.42 16962 chr14 24572812 24572812 G A rs35618680 PCK2 Nonsynonymous SNV R387H 0.107 0.109 0.088 47 126 42 0.121 26 10 2 1 2 Benign 22.3 16963 chr14 51368610 51368610 A G rs28564871 ABHD12B Nonsynonymous SNV I205V 0.245 0.253 0.201 70 288 97 0.179 59 29 10 6 7 11.78 16964 chr16 20811681 20811681 C T rs2301771 ERI2 Synonymous SNV K168K 0.715 0.727 0.626 306 839 279 0.785 184 307 98 58 118 11.1 16965 chr4 858941 858941 T C rs1026738 GAK Synonymous SNV A966A 0.98 0.974 0.98 383 1150 374 0.982 288 563 182 141 188 0.856 16966 chr16 20855309 20855309 A G rs9929443 REXO5 Synonymous SNV E560E 0.866 0.906 0.827 359 1017 348 0.921 243 443 159 101 166 8.019 16967 chr16 20959918 20959918 G A rs2301620 DNAH3 Nonsynonymous SNV R3698W 0.055 0.042 0.078 31 64 16 0.079 23 3 1 0 0 33 16968 chr3 182987591 182987591 G A rs115825683 B3GNT5 Nonsynonymous SNV R2K 0.014 0.01 0.007 6 16 4 0.015 2 0 0 0 0 22.8 16969 chr4 860192 860192 A G rs1064207 GAK Synonymous SNV S922S 0.65 0.667 0.697 271 763 256 0.695 205 241 82 72 96 0.043 16970 chr14 51376774 51376774 G A rs15669 PYGL Synonymous SNV T638T 0.147 0.12 0.099 62 172 46 0.159 29 12 2 0 2 Benign 14.69 16971 chr14 21623673 21623673 T C OR5AU1 Nonsynonymous SNV Y120C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.27 16972 chr16 20966273 20966273 G A rs12924551 DNAH3 Nonsynonymous SNV R3599C 0.072 0.049 0.082 46 84 19 0.118 24 5 1 0 1 35 16973 chr14 51378591 51378591 T - rs11356035 PYGL 0.404 0.38 0.327 135 474 146 0.346 96 92 24 17 25 16974 chr4 944210 944210 A C rs34884217 TMEM175, TMEM175 Nonsynonymous SNV Q65P 0.079 0.073 0.085 33 93 28 0.085 25 4 0 1 1 0.195 16975 chr3 183027542 183027542 T G rs7639705 MCF2L2 Nonsynonymous SNV I359L 0.217 0.208 0.17 67 255 80 0.172 50 23 11 3 4 2.516 16976 chr14 51383432 51383432 G A rs2075643 PYGL Synonymous SNV D306D 0.217 0.221 0.201 68 255 85 0.174 59 27 9 7 7 Benign 12.31 16977 chr16 20966362 20966362 T C rs34051490 DNAH3 Nonsynonymous SNV Y3569C 0.072 0.049 0.082 46 84 19 0.118 24 5 1 0 1 27.3 16978 chr14 51387782 51387782 C T rs946616 PYGL Nonsynonymous SNV V188I 0.099 0.086 0.054 40 116 33 0.103 16 7 0 0 0 Benign/Likely benign 23.8 16979 chr14 54417522 54417522 A G rs17563 BMP4 Nonsynonymous SNV V152A 0.529 0.513 0.429 202 621 197 0.518 126 168 51 22 48 Benign/Likely benign 9.335 16980 chr4 946226 946226 T C rs11552301 TMEM175 Synonymous SNV I68I 0.605 0.615 0.619 259 710 236 0.664 182 211 73 57 87 0.16 16981 chr16 20975069 20975069 G A rs3743696 DNAH3 Synonymous SNV I3333I 0.067 0.042 0.068 42 79 16 0.108 20 5 1 0 1 5.162 16982 chr3 183212026 183212026 C T rs2256061 KLHL6 Synonymous SNV S397S 0.226 0.214 0.214 88 265 82 0.226 63 25 8 7 7 15.5 16983 chr16 20975303 20975303 A G rs3743697 DNAH3 Synonymous SNV S3255S 0.069 0.042 0.071 42 81 16 0.108 21 5 1 0 1 0.002 16984 chr4 961373 961373 G A rs1377586 DGKQ Synonymous SNV V317V 0.41 0.414 0.435 178 481 159 0.456 128 107 30 30 41 2.077 16985 chr14 55004449 55004449 G A rs115333865 CGRRF1 Nonsynonymous SNV V194M 0.017 0.021 0.027 5 20 8 0.013 8 0 0 0 1 25.4 16986 chr16 20975522 20975522 A G rs3826156 DNAH3 Synonymous SNV S3182S 0.067 0.042 0.068 42 79 16 0.108 20 5 1 0 1 0.002 16987 chr3 183226114 183226114 G T rs73188786 KLHL6 Synonymous SNV P214P 0.133 0.133 0.139 54 156 51 0.138 41 9 3 3 4 1.734 16988 chr16 20976360 20976360 T G rs33928718 DNAH3 Nonsynonymous SNV K2903T 0.067 0.042 0.068 42 79 16 0.108 20 5 1 0 1 22.4 16989 chr4 980896 980896 C A rs11248061 IDUA Synonymous SNV A8A 0.115 0.081 0.071 45 135 31 0.115 21 57 13 10 15 Benign 11.67 16990 chr14 24658776 24658776 G A rs138225742 TM9SF1 Nonsynonymous SNV R469W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 26.7 16991 chr14 55457988 55457988 G C rs72715571 WDHD1 Synonymous SNV P305P 0.064 0.052 0.037 16 75 20 0.041 11 3 0 0 1 9.495 16992 chr14 44974966 44974966 G A rs1959379 FSCB Nonsynonymous SNV P409S 0.129 0.133 0.146 58 151 51 0.149 43 8 1 3 3 0.003 16993 chr16 20981162 20981162 T C rs12929546 DNAH3 Nonsynonymous SNV I2758V 0.098 0.073 0.099 54 115 28 0.138 29 8 2 0 4 0.007 16994 chr4 980932 980932 G A rs10902762 IDUA Synonymous SNV A20A 0.157 0.13 0.116 57 184 50 0.146 34 74 18 13 16 Benign 8.222 16995 chr4 980971 980971 T G rs10794537 IDUA Nonsynonymous SNV H33Q 0.579 0.602 0.534 240 680 231 0.615 157 320 111 73 114 Benign 0.034 16996 chr16 20996981 20996981 G C rs61734980 DNAH3 Synonymous SNV L2315L 0.056 0.076 0.054 20 66 29 0.051 16 5 1 1 0 Benign 3.629 16997 chr14 44975052 44975052 A G rs3825630 FSCB Nonsynonymous SNV L380P 0.128 0.13 0.146 59 150 50 0.151 43 8 1 3 3 0.89 16998 chr16 21008690 21008690 T C rs3115446 DNAH3 Synonymous SNV K2126K 0.409 0.393 0.391 156 480 151 0.4 115 95 29 19 28 Benign 0.85 16999 chr14 45432870 45432870 G C rs3825629 TOGARAM1 Nonsynonymous SNV E416Q 0.046 0.073 0.054 26 54 28 0.067 16 1 0 0 1 0.523 17000 chr14 52466502 52466502 G A rs76200085 RTRAF Synonymous SNV L150L 0.014 0.026 0.014 2 16 10 0.005 4 0 0 0 0 11.09 17001 chr16 21045369 21045369 A G rs2112494 DNAH3 Synonymous SNV I1662I 0.105 0.07 0.109 55 123 27 0.141 32 7 2 2 4 0.164 17002 chr4 982852 982852 G A rs3796621 SLC26A1 Synonymous SNV A625A 0.411 0.411 0.429 177 482 158 0.454 126 104 29 32 38 0.126 17003 chr16 21078693 21078693 T G rs861424 DNAH3 Synonymous SNV A1097A 0.349 0.388 0.374 165 410 149 0.423 110 81 30 26 34 Benign 6.676 17004 chr14 44975606 44975606 G T rs3809429 FSCB Nonsynonymous SNV H195Q 0.128 0.13 0.146 58 150 50 0.149 43 7 1 3 3 11.56 17005 chr14 55619311 55619311 A G rs15870 DLGAP5 Synonymous SNV N706N 0.296 0.294 0.276 129 348 113 0.331 81 59 11 11 20 0.35 17006 chr4 983060 983060 T C rs3796622 SLC26A1 Nonsynonymous SNV Q556R 0.617 0.633 0.619 257 724 243 0.659 182 233 76 52 84 0.002 17007 chr16 21145648 21145648 C T rs11074483 DNAH3 Synonymous SNV K338K 0.265 0.227 0.201 117 311 87 0.3 59 42 10 4 20 16.13 17008 chr14 45433155 45433155 C G rs3742591 TOGARAM1 Nonsynonymous SNV L511V 0.029 0.044 0.041 18 34 17 0.046 12 1 0 0 1 22.8 17009 chr16 21145657 21145657 G A rs16970950 DNAH3 Synonymous SNV S335S 0.078 0.091 0.065 32 91 35 0.082 19 3 0 1 2 12.95 17010 chr14 52481917 52481917 C T rs946615 NID2 Synonymous SNV R1035R 0.244 0.245 0.276 101 287 94 0.259 81 32 14 10 12 14.58 17011 chr16 21151913 21151913 G T rs72780891 DNAH3 Nonsynonymous SNV Q214K 0.191 0.135 0.133 85 224 52 0.218 39 21 3 1 10 9.092 17012 chr4 983809 983809 C T rs4690221 SLC26A1 Synonymous SNV S306S 0.399 0.406 0.405 171 469 156 0.438 119 98 29 29 37 7.041 17013 chr14 45515838 45515838 A G rs74907291 TOGARAM1 Synonymous SNV A1415A 0.027 0.042 0.041 18 32 16 0.046 12 0 0 0 1 19.93 17014 chr4 995868 995868 C T rs114806891 IDUA Synonymous SNV N165N 0.096 0.102 0.105 42 113 39 0.108 31 5 3 2 3 Benign 16.19 17015 chr14 45606287 45606287 C T rs10138997 FANCM Nonsynonymous SNV S175F 0.04 0.065 0.061 31 47 25 0.079 18 0 0 0 1 Benign 7.57 17016 chr16 21151980 21151980 T C rs8061600 DNAH3 Synonymous SNV V191V 0.078 0.089 0.061 32 91 34 0.082 18 3 0 1 2 0.069 17017 chr14 21931847 21931847 T C RAB2B Nonsynonymous SNV T102A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.67 17018 chr16 21190853 21190853 A C rs1063087 TMEM159 Nonsynonymous SNV E154D 0.727 0.76 0.731 305 854 292 0.782 215 311 105 80 119 0.003 17019 chr4 1006333 1006333 G A rs4647942 FGFRL1 Synonymous SNV P20P 0.487 0.456 0.446 180 572 175 0.462 131 144 41 31 41 11.08 17020 chr4 1018705 1018705 C A rs4647930 FGFRL1 Nonsynonymous SNV P362Q 0.252 0.26 0.248 88 296 100 0.226 73 34 13 13 14 16.65 17021 chr16 21222672 21222672 C A rs2075520 ZP2 Nonsynonymous SNV G36V 0.285 0.25 0.228 105 335 96 0.269 67 44 10 11 13 0.816 17022 chr14 55864130 55864130 A G rs8003279 ATG14 Synonymous SNV L82L 0.216 0.224 0.187 97 254 86 0.249 55 33 8 5 11 9.503 17023 chr14 56106666 56106666 A C rs139488147 KTN1 Nonsynonymous SNV E620A 0.014 0.01 0.003 4 16 4 0.01 1 0 0 0 0 27.6 17024 chr16 2131718 2131718 C T rs777489742 TSC2 Nonsynonymous SNV R1001W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 17025 chr4 1019011 1019011 C T rs4647932 FGFRL1 Nonsynonymous SNV P464L 0.083 0.076 0.095 32 97 29 0.082 28 3 2 1 2 10.84 17026 chr14 52509601 52509601 C T rs111989036 NID2 Nonsynonymous SNV R493K 0.013 0.018 0.01 3 15 7 0.008 3 0 0 0 0 Likely benign 1.625 17027 chr16 216420 216420 G T rs118054833 HBM Synonymous SNV P82P 0.025 0.023 0.024 6 29 9 0.015 7 0 0 0 0 2.679 17028 chr4 1087265 1087265 T C rs1670534 RNF212 Nonsynonymous SNV I262V 0.792 0.781 0.728 303 930 300 0.777 214 368 116 81 121 1.14 17029 chr14 23866189 23866189 G A rs76202964 MYH6 Synonymous SNV Y717Y 0.027 0.039 0.017 12 32 15 0.031 5 0 0 0 0 Benign 8.24 17030 chr16 2204835 2204835 T C rs13242 SNHG19 0 0 0.908 0 0 0 0 267 0 0 124 0 2.285 17031 chr16 22155629 22155629 A G rs9937453 VWA3A Nonsynonymous SNV N885S 0.222 0.19 0.228 71 261 73 0.182 67 34 7 8 7 0.586 17032 chr4 1087327 1087327 - CTGCCCAGGCTGGAGCCAGCC rs138488801 RNF212 S241delinsWLAPAWAA 0.791 0.784 0.718 305 929 301 0.782 211 368 117 80 122 17033 chr4 1087329 1087329 C T rs118112880 RNF212 Synonymous SNV R240R 0.792 0.784 0.721 305 930 301 0.782 212 368 117 80 122 2.311 17034 chr16 22161136 22161136 T C rs1991020 VWA3A Nonsynonymous SNV F1005L 0.998 1 0.997 388 1172 384 0.995 293 585 192 146 193 0.257 17035 chr4 1087338 1087338 C T rs11725984 RNF212 Synonymous SNV G237G 0.793 0.784 0.728 305 931 301 0.782 214 369 117 81 122 2.377 17036 chr14 45700409 45700409 C T rs61741592 MIS18BP1 Nonsynonymous SNV R510Q 0.096 0.122 0.078 35 113 47 0.09 23 5 1 1 1 0.704 17037 chr4 1087401 1087401 G A rs56889100 RNF212 Synonymous SNV T216T 0.133 0.109 0.075 45 156 42 0.115 22 10 2 2 2 0.923 17038 chr16 22256044 22256044 C T rs766097584 EEF2K Stop gain R114X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 17039 chr4 1090625 1090625 G A rs4045481 RNF212 Synonymous SNV T58T 0.662 0.669 0.612 261 777 257 0.669 180 255 89 56 87 0.048 17040 chr16 22269867 22269867 A G rs4783453 EEF2K Nonsynonymous SNV Q361R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.234 17041 chr14 57948380 57948380 T C rs1152522 CCDC198 0.792 0.786 0.81 305 930 302 0.782 238 363 118 100 123 18.35 17042 chr4 1164277 1164277 C G rs2279279 SPON2 Nonsynonymous SNV V242L 0.672 0.688 0.643 243 789 264 0.623 189 268 91 60 79 16.42 17043 chr3 183861243 183861243 A G rs843358 EIF2B5 Nonsynonymous SNV I587V 0.299 0.302 0.262 110 351 116 0.282 77 50 21 8 19 Benign 17.86 17044 chr16 22319517 22319517 T G rs2347 POLR3E Nonsynonymous SNV S10A 0.076 0.076 0.082 24 89 29 0.062 24 2 0 3 0 16.22 17045 chr14 47343301 47343301 G A MDGA2 Nonsynonymous SNV T778I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 17046 chr14 53019946 53019946 C T rs112566626 GPR137C Synonymous SNV S27S 0.048 0.044 0.068 18 56 17 0.046 20 3 3 1 1 11.39 17047 chr4 1165130 1165130 G T rs11247975 SPON2 Nonsynonymous SNV A122E 0.673 0.688 0.636 244 790 264 0.626 187 269 91 60 80 3.74 17048 chr14 24040430 24040430 C T rs147893967 JPH4 Nonsynonymous SNV A504T 0.036 0.023 0.014 7 42 9 0.018 4 0 0 0 0 14.03 17049 chr16 2257105 2257105 C G rs26862 MLST8 Synonymous SNV P72P 0.401 0.419 0.456 159 471 161 0.408 134 83 32 29 37 11.09 17050 chr16 2260567 2260567 C T rs26857 BRICD5 Nonsynonymous SNV V46I 0.407 0.404 0.463 168 478 155 0.431 136 83 26 29 40 0.002 17051 chr14 22038562 22038562 T C rs45612332 OR10G3 Nonsynonymous SNV Y105C 0.083 0.076 0.071 35 97 29 0.09 21 4 0 1 3 24.1 17052 chr4 1165276 1165276 T C SPON2 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 17053 chr4 1165741 1165741 A G rs922697 SPON2 Nonsynonymous SNV L40P 0.997 1 0.99 388 1170 384 0.995 291 583 192 144 193 8.18 17054 chr16 2260585 2260585 - CAG rs756767541 BRICD5 L39_V40insL 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17055 chr16 2260612 2260612 T C rs26856 BRICD5 Nonsynonymous SNV S31G 0.71 0.69 0.721 275 834 265 0.705 212 291 93 73 100 0.001 17056 chr4 1165764 1165764 C T rs11538062 SPON2 Synonymous SNV E32E 0.094 0.104 0.143 38 110 40 0.097 42 2 4 2 5 13 17057 chr16 2282256 2282256 G A rs26839 E4F1 Nonsynonymous SNV R167H 0.986 0.982 0.969 374 1158 377 0.959 285 571 185 139 180 2.478 17058 chr4 1330759 1330759 T C rs1128427 MAEA Nonsynonymous SNV W226R 0.486 0.495 0.476 184 571 190 0.472 140 138 48 36 45 2.301 17059 chr14 22138817 22138817 C A rs147858014 OR4E1 Nonsynonymous SNV A112S 0.019 0.018 0 2 22 7 0.005 0 0 0 0 0 13.72 17060 chr16 22826339 22826339 A G rs208951 HS3ST2 Synonymous SNV V136V 0.347 0.393 0.337 103 407 151 0.264 99 71 33 16 14 9.337 17061 chr4 1343405 1343405 T C rs2276903 UVSSA Synonymous SNV I64I 0.477 0.497 0.473 184 560 191 0.472 139 131 48 35 45 0.02 17062 chr16 2285357 2285357 C T rs26840 E4F1 Synonymous SNV I536I 0.375 0.365 0.415 152 440 140 0.39 122 86 22 21 33 11.92 17063 chr4 1346880 1346880 C A rs150774883 UVSSA Nonsynonymous SNV P205T 0.001 0.003 0 8 1 1 0.021 0 0 0 0 0 24.3 17064 chr16 2285369 2285369 G A rs200137506 E4F1 Synonymous SNV E540E 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 0.151 17065 chr16 22926511 22926511 A G rs35682499 HS3ST2 Synonymous SNV S244S 0.184 0.18 0.173 63 216 69 0.162 51 20 7 4 3 6.62 17066 chr3 184056275 184056275 G T rs115148262 FAM131A Nonsynonymous SNV R63S 0.029 0.036 0.017 9 34 14 0.023 5 1 1 0 1 12.39 17067 chr16 230578 230578 A G rs11863726 HBQ1 Synonymous SNV E31E 0.105 0.104 0.058 41 123 40 0.105 17 1 2 1 1 10.43 17068 chr14 55169050 55169050 - CAG rs142168866 SAMD4A S157_F158insS 0.06 0.068 0.068 19 70 26 0.049 20 5 1 1 0 17069 chr4 1374695 1374695 C A rs28614045 UVSSA Synonymous SNV R594R 0.634 0.622 0.667 247 744 239 0.633 196 240 75 64 76 16.52 17070 chr14 23240328 23240328 T A rs8786 OXA1L Synonymous SNV R347R 0.285 0.326 0.32 114 335 125 0.292 94 47 19 15 18 8.641 17071 chr16 23080634 23080634 C A rs10083789 USP31 Nonsynonymous SNV R931L 0.285 0.247 0.279 85 335 95 0.218 82 45 13 13 9 23.7 17072 chr14 55448409 55448409 G C rs61741224 WDHD1 Nonsynonymous SNV P515A 0.071 0.055 0.068 30 83 21 0.077 20 6 0 0 0 26.1 17073 chr4 1374774 1374774 C T rs28522910 UVSSA Nonsynonymous SNV P620L 0.634 0.622 0.667 247 744 239 0.633 196 240 75 64 76 Benign 23.8 17074 chr14 23240713 23240713 - AGC rs148216086 OXA1L S422_K423insS 0.298 0.333 0.333 118 350 128 0.303 98 50 19 17 19 17075 chr14 59789727 59789727 G A rs8022614 DAAM1 Synonymous SNV K186K 0.317 0.31 0.337 112 372 119 0.287 99 65 22 16 16 9.341 17076 chr16 23098422 23098422 A G rs13339649 USP31 Nonsynonymous SNV I538T 0.319 0.349 0.32 137 374 134 0.351 94 61 26 17 26 2.252 17077 chr14 59797235 59797235 A G rs941884 DAAM1 Synonymous SNV Q463Q 0.638 0.578 0.585 233 749 222 0.597 172 255 72 52 64 6.264 17078 chr14 55510110 55510110 G A rs17128136 SOCS4 Synonymous SNV P117P 0.089 0.102 0.082 36 104 39 0.092 24 1 2 3 1 5.339 17079 chr4 1377615 1377615 A G rs9996817 UVSSA Synonymous SNV S641S 0.658 0.643 0.677 253 773 247 0.649 199 264 79 66 78 3.601 17080 chr3 184075047 184075047 A G rs2228291 CLCN2 Synonymous SNV I258I 0.353 0.326 0.384 129 414 125 0.331 113 72 27 22 30 0.144 17081 chr14 60004844 60004844 C T rs4261431 CCDC175 Nonsynonymous SNV G507E 0.544 0.521 0.463 223 639 200 0.572 136 187 57 41 56 0.014 17082 chr4 1397297 1397297 T G rs11945310 NKX1-1 Nonsynonymous SNV Q257P 0.575 0.583 0.592 237 675 224 0.608 174 232 80 60 78 0.003 17083 chr16 23200761 23200761 T C rs5734 SCNN1G Synonymous SNV Y129Y 0.326 0.359 0.32 141 383 138 0.362 94 63 28 18 28 Benign 0.003 17084 chr16 23200848 23200848 T C rs5735 SCNN1G Synonymous SNV I158I 0.326 0.359 0.32 141 383 138 0.362 94 63 28 18 28 Benign 0.497 17085 chr3 184099050 184099050 C T rs34095724 CHRD Nonsynonymous SNV P94S 0.051 0.042 0.054 17 60 16 0.044 16 2 2 0 0 12.5 17086 chr14 60043422 60043422 A G rs4898996 CCDC175 Synonymous SNV T24T 0.961 0.93 0.364 367 1128 357 0.941 107 543 166 52 174 4.518 17087 chr4 1399897 1399897 C A rs141872547 NKX1-1 Nonsynonymous SNV A112S 0.012 0.005 0.007 5 14 2 0.013 2 0 0 0 0 20.3 17088 chr16 23360199 23360199 T C rs238547 SCNN1B Synonymous SNV P93P 0.626 0.646 0.616 268 735 248 0.687 181 234 75 54 92 Benign 4.979 17089 chr16 23489711 23489711 C G rs1135045 GGA2 Nonsynonymous SNV A424P 0.788 0.771 0.806 306 925 296 0.785 237 365 112 100 121 8.24 17090 chr14 51192659 51192659 G A rs1983764 NIN Synonymous SNV P1355P 0.307 0.328 0.306 135 360 126 0.346 90 49 20 18 20 8.345 17091 chr4 1646017 1646017 C G rs4865428 FAM53A Nonsynonymous SNV S312T 0.436 0.409 0.459 169 512 157 0.433 135 127 31 29 35 1.948 17092 chr14 24606928 24606928 G A rs11548692 PSME1 Synonymous SNV V104V 0.043 0.039 0.024 9 51 15 0.023 7 0 0 0 0 13.1 17093 chr3 184103903 184103903 A C rs16858780 CHRD Nonsynonymous SNV M630L 0.168 0.141 0.177 75 197 54 0.192 52 21 4 6 8 0.091 17094 chr16 23521643 23521643 G C rs1071685 GGA2 Synonymous SNV L30L 0.782 0.771 0.738 299 918 296 0.767 217 362 113 94 117 13.52 17095 chr14 51204996 51204996 C T rs11376 NIN Synonymous SNV Q1166Q 0.438 0.474 0.405 187 514 182 0.479 119 110 39 30 42 Likely benign 10.56 17096 chr4 1656801 1656801 A C rs62287700 FAM53A Synonymous SNV P262P 0.421 0.404 0.442 161 494 155 0.413 130 121 30 29 32 0.001 17097 chr16 23536684 23536684 T C rs6497671 EARS2 Nonsynonymous SNV S457G 0.857 0.833 0.878 336 1006 320 0.862 258 432 131 113 143 Benign 0.235 17098 chr14 51206145 51206145 A T rs12717411 NIN Nonsynonymous SNV S1124T 0.053 0.055 0.037 31 62 21 0.079 11 2 1 0 1 Likely benign 12 17099 chr4 1657281 1657281 G A rs79735962 FAM53A Synonymous SNV T102T 0.417 0.398 0.446 160 490 153 0.41 131 120 29 29 32 5.559 17100 chr16 23546561 23546561 G C rs2073951 EARS2 Synonymous SNV V202V 0.859 0.836 0.861 336 1008 321 0.862 253 434 132 111 143 Benign 2.002 17101 chr4 1701317 1701317 G A rs2247341 SLBP Synonymous SNV Y116Y 0.347 0.341 0.34 117 407 131 0.3 100 64 20 21 18 11.19 17102 chr16 23563501 23563501 C T rs7187920 EARS2 Synonymous SNV A88A 0.786 0.773 0.806 302 923 297 0.774 237 362 112 100 117 Benign 16.77 17103 chr16 23607510 23607510 G A rs141475669 NDUFAB1 Synonymous SNV T34T 0.014 0.01 0.003 13 16 4 0.033 1 0 0 0 0 10.02 17104 chr4 1737502 1737502 C T rs11248073 TACC3 Synonymous SNV F563F 0.352 0.346 0.361 122 413 133 0.313 106 70 20 20 21 12.06 17105 chr16 24564880 24564881 TA - rs530815225 RBBP6 0.437 0.453 0.49 172 513 174 0.441 144 181 55 33 57 17106 chr14 60903757 60903757 G A rs1254319 C14orf39 Nonsynonymous SNV L524F 0.335 0.362 0.344 124 393 139 0.318 101 80 31 14 16 2.98 17107 chr16 24582299 24582299 C G rs7196736 RBBP6 Synonymous SNV T1270T 0.175 0.174 0.16 48 206 67 0.123 47 24 4 6 1 0.287 17108 chr4 1807894 1807894 G A rs7688609 FGFR3 Synonymous SNV T539T 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 7.653 17109 chr3 184550501 184550501 A G rs9830734 VPS8 Nonsynonymous SNV I83V 0.354 0.323 0.347 141 416 124 0.362 102 62 24 15 24 0.177 17110 chr16 24583406 24583406 A G rs7593 RBBP6 Synonymous SNV A1639A 0.365 0.354 0.347 130 428 136 0.333 102 96 22 21 19 0.002 17111 chr14 55907172 55907172 C G rs8019270 TBPL2 Nonsynonymous SNV R31P 0.588 0.565 0.622 219 690 217 0.562 183 217 61 66 63 2.695 17112 chr4 1818594 1818594 C T rs9328763 LETM1 Synonymous SNV K597K 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 9.596 17113 chr16 2475021 2475021 T C rs11641123 ABCA17P 0 0 0.548 0 0 0 0 161 0 0 46 0 2.048 17114 chr16 24888646 24888646 T C rs11074656 SLC5A11 Nonsynonymous SNV V112A 0.349 0.391 0.378 165 410 150 0.423 111 78 34 21 35 8.282 17115 chr4 2044128 2044128 C T rs570712 C4orf48 Nonsynonymous SNV P17L 0.559 0.464 0.194 193 656 178 0.495 57 324 88 26 94 12.35 17116 chr14 51227000 51227000 A G rs4901055 NIN Synonymous SNV H658H 0.153 0.169 0.146 77 180 65 0.197 43 16 7 1 7 Likely benign 0.057 17117 chr3 184573555 184573555 C T rs6443999 VPS8 Synonymous SNV Y351Y 0.37 0.331 0.364 143 434 127 0.367 107 69 27 20 26 9.784 17118 chr16 24902194 24902194 T C rs274081 SLC5A11 Synonymous SNV F153F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 17119 chr3 184587274 184587274 A G rs61741194 VPS8 Synonymous SNV L521L 0.09 0.091 0.065 23 106 35 0.059 19 4 2 0 0 10.35 17120 chr4 2210065 2210065 C A rs2353552 POLN Nonsynonymous SNV Q121H 0.105 0.083 0.092 34 123 32 0.087 27 9 2 2 2 8.869 17121 chr16 24918048 24918048 C T rs17772929 SLC5A11 Nonsynonymous SNV R227C 0.386 0.404 0.354 161 453 155 0.413 104 94 33 18 37 19.81 17122 chr4 2275835 2275835 G A rs2051561 ZFYVE28 Synonymous SNV F690F 0.52 0.526 0.561 201 611 202 0.515 165 171 52 39 48 11.49 17123 chr16 24955183 24955183 T C rs17624477 ARHGAP17 Synonymous SNV G414G 0.102 0.099 0.122 45 120 38 0.115 36 5 1 3 1 12.95 17124 chr16 25043277 25043277 G A rs11074669 LOC554206 0 0 0.619 0 0 0 0 182 0 0 53 0 6.345 17125 chr4 2306053 2306053 A G rs661301 ZFYVE28 Nonsynonymous SNV S642P 0.779 0.771 0.789 304 915 296 0.779 232 349 113 91 120 0.714 17126 chr14 51352345 51352345 G A rs35375734 ABHD12B Nonsynonymous SNV G90D 0.027 0.018 0.02 6 32 7 0.015 6 0 0 0 0 25.9 17127 chr16 2512523 2512523 G A rs3810794 TEDC2 Synonymous SNV S286S 0.181 0.182 0.16 65 213 70 0.167 47 18 5 6 4 3.334 17128 chr3 184766301 184766301 T C rs3821750 VPS8 Nonsynonymous SNV I1351T 0.147 0.13 0.139 50 173 50 0.128 41 8 3 7 3 13.2 17129 chr16 25255242 25255242 T A rs8059494 ZKSCAN2 Nonsynonymous SNV E615D 0.135 0.125 0.139 45 159 48 0.115 41 13 4 2 1 13.19 17130 chr4 2306259 2306259 C T rs17768776 ZFYVE28 Nonsynonymous SNV S573N 0.142 0.125 0.119 76 167 48 0.195 35 13 2 3 6 11.14 17131 chr16 25268368 25268368 A G rs4787310 ZKSCAN2 Synonymous SNV P27P 0.341 0.328 0.391 138 400 126 0.354 115 69 20 21 16 9.711 17132 chr3 184910133 184910133 G T rs11919970 EHHADH Nonsynonymous SNV Q589K 0.134 0.109 0.105 50 157 42 0.128 31 6 2 2 3 6.837 17133 chr16 25704145 25704145 A G rs2943336 HS3ST4 Nonsynonymous SNV Q136R 0.989 0.99 0.976 383 1161 380 0.982 287 580 190 143 191 7.821 17134 chr4 2341194 2341194 T C rs2071680 ZFYVE28 Synonymous SNV A122A 0.564 0.557 0.568 233 662 214 0.597 167 182 64 46 66 0.009 17135 chr14 23302692 23302692 G A MRPL52, MRPL52 Nonsynonymous SNV V74M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.1 17136 chr3 184911151 184911151 T C rs3732933 EHHADH Synonymous SNV E249E 0.128 0.102 0.095 43 150 39 0.11 28 5 2 1 2 0.017 17137 chr4 2451694 2451694 T C rs3108494 CFAP99 Nonsynonymous SNV C253R 0.912 0.919 0.901 352 1071 353 0.903 265 489 162 118 158 8.208 17138 chr14 58563694 58563694 G C rs2273442 ARMH4 Nonsynonymous SNV Q613E 0.514 0.516 0.51 213 603 198 0.546 150 143 46 40 59 6.917 17139 chr16 27231740 27231740 G C rs34577370 KDM8 Synonymous SNV L378L 0.133 0.13 0.133 70 156 50 0.179 39 7 2 1 7 5.672 17140 chr16 27246617 27246617 T C rs17856580 NSMCE1 Nonsynonymous SNV N47S 0.155 0.133 0.153 48 182 51 0.123 45 18 2 3 3 5.203 17141 chr4 2460571 2460571 C T rs73205493 CFAP99 Nonsynonymous SNV A428V 0.334 0.315 0.313 126 392 121 0.323 92 61 21 14 24 8.585 17142 chr14 61509924 61509924 T C rs2296921 SLC38A6 Synonymous SNV G228G 0.937 0.948 0.905 372 1100 364 0.954 266 532 177 131 181 0.151 17143 chr16 27356203 27356203 A G rs1805010 IL4R Nonsynonymous SNV I75V 0.449 0.456 0.486 167 527 175 0.428 143 122 38 35 34 Pathogenic, protective 0.002 17144 chr3 185331165 185331165 C A rs6762208 SENP2 Nonsynonymous SNV T301K 0.375 0.393 0.35 144 440 151 0.369 103 78 26 21 25 8.425 17145 chr4 2461888 2461888 A G rs3135152 CFAP99 Nonsynonymous SNV H527R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.241 17146 chr14 61857969 61857969 A G rs2230499 PRKCH Synonymous SNV V130V 0.11 0.122 0.129 52 129 47 0.133 38 11 7 5 7 9.698 17147 chr16 27357927 27357927 C T rs2234895 IL4R Nonsynonymous SNV T9M 0.105 0.12 0.143 56 123 46 0.144 42 10 4 4 4 11.09 17148 chr4 2743999 2743999 A G rs232712 TNIP2 Synonymous SNV A342A 0.832 0.828 0.721 323 977 318 0.828 212 403 133 98 133 0.233 17149 chr16 27363945 27363945 C T rs370524692 IL4R Nonsynonymous SNV R200W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 17150 chr14 34269721 34269721 C T rs10141940 NPAS3 Synonymous SNV T706T 0.063 0.076 0.095 30 74 29 0.077 28 8 6 4 5 2.016 17151 chr4 2744087 2744087 G A rs2269495 TNIP2 Nonsynonymous SNV A313V 0.399 0.432 0.408 158 468 166 0.405 120 92 33 21 33 10.93 17152 chr14 62207557 62207557 C T rs11549465 HIF1A Nonsynonymous SNV P606S 0.162 0.174 0.221 63 190 67 0.162 65 7 10 3 3 21.2 17153 chr16 27370278 27370278 G A rs55988941 IL4R Nonsynonymous SNV R271H 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 1.098 17154 chr4 2822467 2822467 G T rs231402 SH3BP2 Synonymous SNV L41L 0.431 0.427 0.463 163 506 164 0.418 136 117 37 34 35 Benign 8.45 17155 chr3 186006618 186006618 G C rs1004588 DGKG Nonsynonymous SNV T142S 0.479 0.513 0.537 186 562 197 0.477 158 139 53 43 45 0.002 17156 chr4 2826400 2826400 T C rs3213501 SH3BP2 Synonymous SNV H100H 0.785 0.82 0.854 297 922 315 0.762 251 363 130 107 111 Benign 3.817 17157 chr16 27373980 27373980 C T rs1805013 IL4R Nonsynonymous SNV S436L 0.04 0.049 0.082 28 47 19 0.072 24 0 1 1 2 0.012 17158 chr14 35230980 35230980 C T rs45620534 BAZ1A Nonsynonymous SNV R1377K 0.102 0.107 0.119 37 120 41 0.095 35 6 2 2 2 16.21 17159 chr4 2831383 2831383 T G rs231399 SH3BP2 Synonymous SNV A250A 0.495 0.495 0.551 196 581 190 0.503 162 147 48 48 52 Benign 0.11 17160 chr16 27374180 27374180 T C rs1805015 IL4R Nonsynonymous SNV S503P 0.107 0.112 0.146 58 126 43 0.149 43 6 5 4 5 protective 16.71 17161 chr4 2943361 2943361 T C rs1054090 NOP14 Nonsynonymous SNV Q716R 0.372 0.333 0.367 153 437 128 0.392 108 86 19 23 29 0.002 17162 chr14 59112677 59112677 G A rs34015825 DACT1 Nonsynonymous SNV D409N 0.093 0.107 0.048 38 109 41 0.097 14 7 1 0 2 23.6 17163 chr16 27374400 27374400 A G rs1801275 IL4R Nonsynonymous SNV Q576R 0.147 0.159 0.207 77 172 61 0.197 61 11 7 5 7 risk factor 1.384 17164 chr4 2946920 2946920 T C rs76561293 NOP14 Nonsynonymous SNV T558A 0.024 0.018 0.031 15 28 7 0.038 9 1 0 1 1 22.8 17165 chr3 186370333 186370333 G T rs1131364 FETUB Synonymous SNV V289V 0.471 0.451 0.52 181 553 173 0.464 153 133 41 42 38 4.31 17166 chr16 27374927 27374927 T G rs1805016 IL4R Nonsynonymous SNV S752A 0.06 0.076 0.099 40 71 29 0.103 29 2 2 2 1 0.776 17167 chr14 24909432 24909432 C A rs375422080 SDR39U1 Nonsynonymous SNV A165S 0.004 0 0 0 5 0 0 0 0 0 0 0 13.36 17168 chr4 2951804 2951804 A G rs2515960 NOP14 Nonsynonymous SNV L380S 0.396 0.357 0.395 156 465 137 0.4 116 97 22 25 29 9.464 17169 chr14 59113537 59113537 C G rs61755641 DACT1 Synonymous SNV S695S 0.093 0.107 0.048 39 109 41 0.1 14 7 1 0 2 12.4 17170 chr16 27772901 27772901 G A rs4787984 KIAA0556 Nonsynonymous SNV A1267T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.63 17171 chr4 2990499 2990499 G T rs2960306 GRK4 Nonsynonymous SNV R33L 0.346 0.302 0.34 132 406 116 0.338 100 72 14 17 23 22.7 17172 chr16 27781309 27781309 G A rs11644502 KIAA0556 Nonsynonymous SNV R1368Q 0.072 0.065 0.085 32 85 25 0.082 25 4 0 1 0 5.668 17173 chr14 52741646 52741646 G A rs17125273 PTGDR Synonymous SNV R348R 0.18 0.177 0.173 84 211 68 0.215 51 16 8 4 7 5.673 17174 chr4 2993980 2993980 T C rs2515941 GRK4 Synonymous SNV D68D 0.34 0.286 0.337 130 399 110 0.333 99 73 12 17 22 0.007 17175 chr4 3006043 3006043 C T rs1024323 GRK4 Nonsynonymous SNV A110V 0.323 0.268 0.32 132 379 103 0.338 94 63 17 14 21 12.8 17176 chr16 2812890 2812890 A G rs2240141 SRRM2 Synonymous SNV K787K 0.806 0.828 0.789 298 946 318 0.764 232 386 134 91 107 0.014 17177 chr14 24642348 24642348 C T rs11547058 REC8 Synonymous SNV H94H 0.089 0.102 0.075 43 105 39 0.11 22 6 2 1 0 13.94 17178 chr14 59950676 59950676 A C rs34741399 L3HYPDH Nonsynonymous SNV L120R 0.08 0.089 0.037 37 94 34 0.095 11 4 1 0 1 24.4 17179 chr16 2814162 2814162 G A rs3094775 SRRM2 Synonymous SNV R1211R 0.748 0.74 0.752 281 878 284 0.721 221 326 107 86 97 0.069 17180 chr3 186435370 186435370 G A rs1050274 KNG1 Synonymous SNV L13L 0.294 0.281 0.33 119 345 108 0.305 97 59 16 13 21 16.33 17181 chr14 36232046 36232046 A G rs17764207 SNORA101B 0.026 0.042 0.027 18 30 16 0.046 8 4 4 2 1 12.34 17182 chr16 2815237 2815237 A C rs3094773 SRRM2 Synonymous SNV R1570R 0.991 1 0.98 387 1163 384 0.992 288 576 192 141 192 0.002 17183 chr4 3076604 3076612 CAGCAGCAG - rs757035717 HTT Q36_Q38del 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 17184 chr3 186437944 186437944 T C rs5029980 KNG1 Synonymous SNV D82D 0.083 0.094 0.088 34 98 36 0.087 26 5 2 1 0 0.278 17185 chr4 3076607 3076612 CAGCAG - HTT Q37_Q38del 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 17186 chr4 3219613 3219613 A C rs2857790 HTT Synonymous SNV L2392L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.026 17187 chr16 2818161 2818161 T C rs2301802 SRRM2 Synonymous SNV S2544S 0.814 0.828 0.796 302 956 318 0.774 234 394 134 93 111 0.005 17188 chr14 59950690 59950690 A C rs2296842 L3HYPDH Synonymous SNV A115A 0.308 0.32 0.272 102 362 123 0.262 80 62 23 11 11 0.001 17189 chr14 55462388 55462388 G A rs61744409 WDHD1 Synonymous SNV D239D 0.02 0.029 0.024 5 24 11 0.013 7 0 0 0 0 11.54 17190 chr16 2821573 2821573 C T rs8017 ELOB Nonsynonymous SNV S129N 0.599 0.635 0.612 237 703 244 0.608 180 216 82 61 72 11.95 17191 chr4 3318413 3318413 A G rs2236052 RGS12 Synonymous SNV S172S 0.678 0.654 0.643 277 796 251 0.71 189 266 83 58 97 2.237 17192 chr14 59988324 59988324 C T rs12887189 CCDC175 Nonsynonymous SNV S689N 0.29 0.286 0.262 92 341 110 0.236 77 62 23 11 11 1.845 17193 chr16 28506872 28506872 A G rs149271 APOBR Synonymous SNV E170E 0.27 0.279 0.235 110 317 107 0.282 69 45 12 10 16 4.378 17194 chr4 3451109 3451109 G A rs2498323 HGFAC Nonsynonymous SNV R644Q 0.119 0.138 0.102 55 140 53 0.141 30 7 5 3 4 23.1 17195 chr16 28507398 28507424 GGGACAGCCTCAGGAGGGGAGGAGGCC - rs148114931 APOBR E361_G369del 0.261 0.273 0.252 109 307 105 0.279 74 45 12 10 16 17196 chr16 28507644 28507644 C G rs180743 APOBR Nonsynonymous SNV P428A 0.274 0.281 0.259 109 322 108 0.279 76 45 12 10 16 0.706 17197 chr4 3475252 3475252 T C rs4325970 DOK7 Synonymous SNV L74L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 1.09 17198 chr14 24653965 24653965 C T rs45484197 IPO4 Synonymous SNV T509T 0.018 0.023 0.031 5 21 9 0.013 9 2 1 1 0 14.68 17199 chr16 28508048 28508048 A G rs180744 APOBR Synonymous SNV Q562Q 0.275 0.281 0.259 110 323 108 0.282 76 45 12 10 16 0.004 17200 chr14 64612858 64612858 C A rs10151658 SYNE2 Nonsynonymous SNV L5186M 0.449 0.492 0.476 170 527 189 0.436 140 117 53 38 35 Benign 1.263 17201 chr4 3495095 3495095 G A rs9684786 DOK7 Nonsynonymous SNV G151D 0.185 0.177 0.207 88 217 68 0.226 61 19 6 8 6 Benign 12.18 17202 chr16 28508069 28508069 C T rs151174 APOBR Synonymous SNV G569G 0.275 0.281 0.255 110 323 108 0.282 75 45 12 9 16 9.741 17203 chr16 28508447 28508447 A G rs40831 APOBR Synonymous SNV A695A 0.296 0.299 0.316 122 347 115 0.313 93 53 13 17 22 0.141 17204 chr4 3519762 3519762 A G rs13325 LRPAP1 Synonymous SNV A250A 0.187 0.206 0.214 63 219 79 0.162 63 21 9 5 7 0.171 17205 chr16 28508716 28508716 T C rs40832 APOBR Nonsynonymous SNV V785A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 17206 chr3 186917751 186917751 C G rs6764714 RTP1 Nonsynonymous SNV Q229E 0.567 0.526 0.524 241 666 202 0.618 154 185 55 39 77 3.442 17207 chr14 55636259 55636259 G A rs17128275 DLGAP5 Nonsynonymous SNV T469I 0.026 0.044 0.034 8 31 17 0.021 10 0 0 0 0 28.3 17208 chr4 4249884 4249884 G T rs6854167 TMEM128 Nonsynonymous SNV L16I 0.131 0.125 0.18 53 154 48 0.136 53 13 3 4 3 9.277 17209 chr14 64694749 64694749 T G rs17225885 ESR2 Nonsynonymous SNV K474T 0.099 0.112 0.085 36 116 43 0.092 25 7 1 1 2 5.724 17210 chr14 24707879 24707879 T C rs147556927 GMPR2 Synonymous SNV S393S 0.009 0.008 0.003 7 10 3 0.018 1 0 0 0 0 8.069 17211 chr14 30100143 30100143 C T rs191202207 PRKD1 Nonsynonymous SNV E493K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 33 17212 chr16 28511206 28511206 C G rs147413292 IL27 Nonsynonymous SNV E166D 0.048 0.047 0.061 22 56 18 0.056 18 1 0 0 1 1.723 17213 chr14 24711477 24711477 T C rs367835995 TINF2 Nonsynonymous SNV Q21R 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 17214 chr14 55643857 55643857 T G rs8010791 DLGAP5 Nonsynonymous SNV Q324H 0.026 0.044 0.037 8 31 17 0.021 11 0 0 0 0 23.1 17215 chr4 4276132 4276132 T C rs7376390 LYAR Nonsynonymous SNV H265R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 17216 chr14 38273922 38273922 T G rs12896790 TTC6 Nonsynonymous SNV I87S 0.097 0.112 0.109 36 114 43 0.092 32 5 2 2 2 16.27 17217 chr16 28513403 28513403 A G rs181206 IL27 Nonsynonymous SNV L119P 0.223 0.214 0.211 91 262 82 0.233 62 29 8 6 12 23.5 17218 chr4 4304337 4304337 C T rs2916382 ZBTB49 Synonymous SNV A258A 0.815 0.815 0.827 311 957 313 0.797 243 394 129 101 122 14.45 17219 chr14 64935411 64935411 C T rs2230491 AKAP5 Nonsynonymous SNV P100L 0.141 0.146 0.15 68 166 56 0.174 44 12 4 3 9 0.119 17220 chr4 5021086 5021086 G T rs10006676 CYTL1 Synonymous SNV S29S 0.035 0.036 0.061 14 41 14 0.036 18 1 0 0 0 1.289 17221 chr14 55655692 55655692 C T rs2274271 DLGAP5 Nonsynonymous SNV G69E 0.127 0.148 0.122 38 149 57 0.097 36 6 2 4 1 0.386 17222 chr16 2871555 2871555 G A rs10641 PRSS21 Synonymous SNV P298P 0.746 0.711 0.69 281 876 273 0.721 203 332 97 73 99 7.768 17223 chr14 60585131 60585131 A G rs308998 PCNX4 Nonsynonymous SNV K321E 0.197 0.206 0.201 76 231 79 0.195 59 26 6 6 7 17.48 17224 chr16 28842311 28842311 A G rs4344749 ATXN2L Synonymous SNV Q413Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.942 17225 chr4 5570221 5570221 G A rs12511039 EVC2 Synonymous SNV H1089H 0.348 0.362 0.33 139 409 139 0.356 97 72 19 17 27 Benign 1.7 17226 chr16 28883241 28883241 A G rs7498665 SH2B1 Nonsynonymous SNV T148A 0.266 0.281 0.218 109 312 108 0.279 64 44 14 8 16 6.851 17227 chr14 60591829 60591829 T C rs308990 PCNX4 Synonymous SNV F746F 0.195 0.206 0.201 76 229 79 0.195 59 25 6 6 7 1.724 17228 chr14 24587680 24587680 G A rs78469280 DCAF11 Nonsynonymous SNV V221I 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 3.771 17229 chr4 5721021 5721021 A C rs2291157 EVC Nonsynonymous SNV Q74P 0.087 0.109 0.088 39 102 42 0.1 26 8 3 0 2 Benign 7.992 17230 chr14 60591887 60591887 G A rs167437 PCNX4 Nonsynonymous SNV G766S 0.197 0.206 0.204 76 231 79 0.195 60 26 6 7 7 13.66 17231 chr14 57075920 57075920 G T rs17776256 TMEM260 Nonsynonymous SNV A245S 0.112 0.091 0.112 32 131 35 0.082 33 9 1 0 0 26.8 17232 chr16 28898793 28898793 T C rs6565259 ATP2A1 Synonymous SNV T101T 0.217 0.245 0.218 87 255 94 0.223 64 28 12 8 9 Benign 0.011 17233 chr14 64988279 64988279 A G rs28626711 ZBTB1 Synonymous SNV E19E 0.176 0.174 0.18 77 207 67 0.197 53 18 8 5 10 7.919 17234 chr14 24606543 24606543 A G rs117249501 PSME1 Nonsynonymous SNV N50S 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 10.51 17235 chr16 2891418 2891418 C G rs12596044 PRSS30P 0 0 0.313 0 0 0 0 92 0 0 14 0 1.909 17236 chr4 5721049 5721049 A G rs35870680 EVC Synonymous SNV S83S 0.175 0.182 0.173 88 205 70 0.226 51 13 8 3 8 Benign 0.229 17237 chr14 64988924 64988924 T C rs10133411 ZBTB1 Synonymous SNV H234H 0.175 0.174 0.184 77 206 67 0.197 54 18 8 5 10 0.014 17238 chr16 2891540 2891540 C G rs11859372 PRSS30P 0 0 0.306 0 0 0 0 90 0 0 14 0 2.668 17239 chr16 2891635 2891635 C G rs11860210 PRSS30P 0 0 0.571 0 0 0 0 168 0 0 52 0 4.185 17240 chr4 5743509 5743509 C T rs6446393 EVC Synonymous SNV L257L 0.952 0.93 0.908 366 1118 357 0.938 267 533 166 124 172 Benign 11.86 17241 chr14 39648629 39648629 C T rs11558739 PNN Synonymous SNV T252T 0.11 0.112 0.099 58 129 43 0.149 29 22 8 5 8 12.27 17242 chr16 2892370 2892370 C A rs3810801 PRSS30P 0 0 0.313 0 0 0 0 92 0 0 15 0 4.641 17243 chr14 24608633 24608633 G A rs143770220 EMC9 Nonsynonymous SNV R52C 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 26.3 17244 chr16 2892695 2892695 A G rs8064026 PRSS30P 0 0 0.83 0 0 0 0 244 0 0 118 0 6.403 17245 chr4 5743512 5743512 T C rs6414624 EVC Nonsynonymous SNV Y258H 0.786 0.732 0.755 294 923 281 0.754 222 370 103 89 109 Benign 8.779 17246 chr14 57072338 57072338 C T rs3737170 TMEM260 Synonymous SNV H191H 0.055 0.076 0.061 25 65 29 0.064 18 4 2 0 2 12.07 17247 chr14 65195794 65195794 T C rs229644 PLEKHG3 Synonymous SNV N144N 0.267 0.284 0.255 114 313 109 0.292 75 44 13 6 12 9.813 17248 chr16 28997997 28997997 G A rs1131543 LAT Synonymous SNV A149A 0.472 0.453 0.459 184 554 174 0.472 135 128 38 33 39 10.82 17249 chr14 57755564 57755564 G A rs35759976 AP5M1 Nonsynonymous SNV A479T 0.099 0.109 0.061 42 116 42 0.108 18 7 2 0 3 26 17250 chr16 29706444 29706444 C T rs2303255 QPRT Nonsynonymous SNV A158V 0.152 0.201 0.099 60 179 77 0.154 29 15 6 4 7 15.3 17251 chr14 65197767 65197767 G A rs229624 PLEKHG3 Synonymous SNV K243K 0.238 0.255 0.228 106 279 98 0.272 67 35 11 5 12 11.32 17252 chr4 5750003 5750003 A G rs33929747 EVC Synonymous SNV L356L 0.391 0.352 0.333 129 459 135 0.331 98 80 23 15 24 Benign 4.228 17253 chr14 65208026 65208026 T C rs229650 PLEKHG3 Synonymous SNV S597S 0.263 0.276 0.265 114 309 106 0.292 78 43 11 6 12 0.419 17254 chr16 29708350 29708350 A G rs9932770 QPRT Nonsynonymous SNV T50A 1 1 0.98 389 1174 384 0.997 288 587 192 143 194 0.001 17255 chr4 5750031 5750031 C T rs6854138 EVC Synonymous SNV L366L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 10.43 17256 chr4 5755542 5755542 C A rs2302075 EVC Nonsynonymous SNV T449K 0.755 0.721 0.799 310 886 277 0.795 235 332 108 92 122 Benign 5.813 17257 chr3 190363594 190363594 G A rs34879831 IL1RAP Synonymous SNV K436K 0.13 0.188 0.139 50 153 72 0.128 41 8 3 3 3 14.04 17258 chr16 29790864 29790864 G A rs235636 ZG16 Nonsynonymous SNV G32S 0.991 0.99 0.983 389 1164 380 0.997 289 577 188 143 194 13.59 17259 chr14 61201634 61201634 C T rs4151150 MNAT1 Synonymous SNV S18S 0.015 0.016 0.014 4 18 6 0.01 4 0 0 0 0 16.57 17260 chr14 65417070 65417070 C A rs35179634 RAB15 Nonsynonymous SNV G173V 0.03 0.039 0.034 12 35 15 0.031 10 1 0 1 0 24.6 17261 chr4 5838513 5838513 C G rs12331 CRMP1 Synonymous SNV T477T 0.376 0.406 0.422 106 442 156 0.272 124 86 29 25 18 16.38 17262 chr16 29791561 29791561 T G rs235637 ZG16 Nonsynonymous SNV L109V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.142 17263 chr14 57947421 57947421 G A rs34960436 CCDC198 Stop gain Q182X 0.047 0.047 0.048 9 55 18 0.023 14 0 1 0 0 Benign 35 17264 chr4 5889117 5889117 T A rs28550375 CRMP1 Nonsynonymous SNV H7L 0.491 0.495 0.483 201 576 190 0.515 142 142 47 36 54 6.638 17265 chr14 68035903 68035903 A G rs17104428 PLEKHH1 Nonsynonymous SNV M438V 0.047 0.039 0.044 21 55 15 0.054 13 1 0 0 1 0.004 17266 chr16 29791721 29791721 G C rs235638 ZG16 Nonsynonymous SNV S162T 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 12.26 17267 chr4 5894398 5894398 C G rs139357095 CRMP1 Nonsynonymous SNV G100A 0.101 0.096 0.054 35 119 37 0.09 16 6 4 2 3 22.2 17268 chr14 58604730 58604730 T C rs137871178 ARMH4 Synonymous SNV Q449Q 0.022 0.023 0.02 3 26 9 0.008 6 1 0 0 0 0.021 17269 chr14 24878258 24878258 G A rs200184423 NYNRIN Nonsynonymous SNV E420K 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 24.3 17270 chr16 29811319 29811319 C T rs235648 KIF22 Synonymous SNV I342I 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 10.58 17271 chr4 5975538 5975538 G A rs16837960 C4orf50 Nonsynonymous SNV R1139W 0.471 0.487 0.435 176 553 187 0.451 128 126 40 27 43 20.8 17272 chr16 29814234 29814234 G A rs2450399 KIF22 Synonymous SNV V407V 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 6.331 17273 chr14 24878259 24878259 A T rs201508215 NYNRIN Nonsynonymous SNV E420V 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 23.3 17274 chr14 58831142 58831142 A G rs1051858 ARID4A Nonsynonymous SNV T779A 0.239 0.234 0.19 81 281 90 0.208 56 44 12 5 11 0.036 17275 chr3 192994543 192994543 A G rs2271791 ATP13A5 Nonsynonymous SNV V1131A 0.396 0.393 0.439 157 465 151 0.403 129 113 30 28 42 22.3 17276 chr16 29825126 29825126 T C rs11150573 PRRT2 Synonymous SNV L251L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.037 17277 chr4 5990110 5990110 C A rs4689287 C4orf50 Nonsynonymous SNV Q1042H 0.302 0.299 0.33 81 355 115 0.208 97 54 16 17 14 20.4 17278 chr16 2983516 2983516 C T rs61747747 FLYWCH1 Synonymous SNV V394V 0.075 0.117 0.078 29 88 45 0.074 23 5 0 1 0 13.01 17279 chr14 58598437 58598437 G C rs45570237 ARMH4 Nonsynonymous SNV Q542E 0.012 0.005 0 1 14 2 0.003 0 0 0 0 0 0.127 17280 chr16 2987315 2987315 G A rs61747749 FLYWCH1 Synonymous SNV P569P 0.077 0.12 0.071 30 90 46 0.077 21 6 0 1 0 6.644 17281 chr14 24880655 24880655 A T rs779080140 NYNRIN Nonsynonymous SNV R881W 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 26.1 17282 chr14 68066906 68066906 C T rs61749519 PIGH Synonymous SNV R5R 0.04 0.023 0.054 18 47 9 0.046 16 1 0 0 2 17.42 17283 chr4 5990339 5990339 G A rs6845455 C4orf50 Nonsynonymous SNV S966L 0.464 0.474 0.466 159 545 182 0.408 137 115 43 30 37 9.749 17284 chr16 29912802 29912802 - GGT rs140411458 ASPHD1 G172_P173insG 0.625 0.586 0.595 236 734 225 0.605 175 221 64 56 70 17285 chr16 29998200 29998200 A G rs4077410 TAOK2 Synonymous SNV T869T 0.458 0.445 0.52 173 538 171 0.444 153 118 43 41 38 0.006 17286 chr14 24773371 24773371 C A NOP9 Nonsynonymous SNV P512Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 14.49 17287 chr14 58605043 58605043 G A rs61741199 ARMH4 Nonsynonymous SNV T345I 0.08 0.06 0.061 32 94 23 0.082 18 5 1 1 3 20.4 17288 chr14 68234520 68234520 C T rs558318162 ZFYVE26 Synonymous SNV S1897S 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 14.51 17289 chr4 5990551 5990551 G A rs58136927 C4orf50 Synonymous SNV I895I 0.221 0.206 0.224 55 259 79 0.141 66 31 9 6 7 8.186 17290 chr16 29999225 29999225 G A rs11864149 TAOK2 Nonsynonymous SNV R1211H 0.119 0.12 0.136 43 140 46 0.11 40 8 2 4 5 8.867 17291 chr3 193040323 193040323 G A rs199624603 ATP13A5 Nonsynonymous SNV T572M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.098 17292 chr4 5990599 5990599 T C rs751240 C4orf50 Synonymous SNV T879T 0.867 0.865 0.854 309 1018 332 0.792 251 441 148 109 125 0.023 17293 chr14 58605072 58605072 C G rs61741193 ARMH4 Nonsynonymous SNV E335D 0.02 0.018 0.01 3 23 7 0.008 3 0 0 0 0 11.75 17294 chr16 30037128 30037128 A C rs11544328 TLCD3B Synonymous SNV G103G 0.383 0.385 0.452 143 450 148 0.367 133 82 36 28 30 0.087 17295 chr4 5990791 5990791 A G rs2016083 C4orf50 Synonymous SNV D815D 0.495 0.526 0.507 170 581 202 0.436 149 135 53 34 42 0.078 17296 chr4 5991384 5991384 T C rs4234711 C4orf50 Nonsynonymous SNV N618D 0.497 0.526 0.51 170 584 202 0.436 150 137 53 35 42 0.002 17297 chr16 30104062 30104062 T G rs200869087 YPEL3 Nonsynonymous SNV N148T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 17298 chr14 58678057 58678057 G A rs17832891 ACTR10 Synonymous SNV T130T 0.026 0.023 0.017 7 31 9 0.018 5 0 0 0 0 12.65 17299 chr3 193080414 193080414 C G rs6797429 ATP13A5 Nonsynonymous SNV E133Q 0.509 0.477 0.531 183 598 183 0.469 156 147 44 46 45 4.139 17300 chr14 68251934 68251934 G A rs3742884 ZFYVE26 Nonsynonymous SNV A1122V 0.024 0.044 0.024 6 28 17 0.015 7 0 0 0 0 Benign/Likely benign 10.53 17301 chr4 5991476 5991476 G A rs4266238 C4orf50 Nonsynonymous SNV T587I 0.455 0.471 0.446 160 534 181 0.41 131 115 45 30 37 6.121 17302 chr16 3017124 3017124 C A rs11641195 KREMEN2 Nonsynonymous SNV A246D 0.366 0.388 0.293 143 430 149 0.367 86 77 33 15 23 11.65 17303 chr3 193158385 193158385 C T rs138414737 ATP13A4 Synonymous SNV G827G 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 Benign 15.77 17304 chr14 68252669 68252669 G C rs7156492 ZFYVE26 Synonymous SNV P1070P 0.024 0.044 0.024 6 28 17 0.015 7 0 0 0 0 Benign/Likely benign 9.809 17305 chr4 6302519 6302519 G A rs1801212 WFS1 Nonsynonymous SNV V333I 0.761 0.768 0.728 302 893 295 0.774 214 341 114 76 119 Benign 5.055 17306 chr16 30198151 30198151 A G rs1132812 CORO1A Synonymous SNV P112P 0.677 0.646 0.646 266 795 248 0.682 190 265 79 65 89 Benign 0.131 17307 chr16 30393147 30393147 C A rs34518080 SEPTIN1 Nonsynonymous SNV G85V 0.064 0.06 0.075 31 75 23 0.079 22 4 1 1 1 25.8 17308 chr14 68271981 68271981 C A rs17104689 ZFYVE26 Synonymous SNV G408G 0.013 0.016 0.003 2 15 6 0.005 1 0 0 0 0 Benign 21.3 17309 chr4 6594947 6594947 A C rs2301796 MAN2B2 Nonsynonymous SNV Q243P 0.448 0.401 0.49 158 526 154 0.405 144 113 28 38 34 0.011 17310 chr16 30393660 30393660 G A rs4787643 SEPTIN1 Synonymous SNV A15A 0.736 0.695 0.684 280 864 267 0.718 201 318 93 71 99 12.87 17311 chr16 30408765 30408765 C T rs12921440 ZNF48 Nonsynonymous SNV A65V 0.657 0.633 0.616 259 771 243 0.664 181 252 75 58 88 7.262 17312 chr14 59931931 59931931 T G rs1752428 GPR135 Nonsynonymous SNV Q5P 0.234 0.193 0.041 72 275 74 0.185 12 119 33 5 28 12.65 17313 chr4 6596360 6596360 G A rs2301795 MAN2B2 Nonsynonymous SNV V269M 0.529 0.557 0.507 223 621 214 0.572 149 159 57 39 66 11.09 17314 chr14 69697203 69697203 G C rs151334986 EXD2 Nonsynonymous SNV C77S 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 9.946 17315 chr16 30409241 30409241 A G rs34843513 ZNF48 Nonsynonymous SNV I101V 0.063 0.044 0.058 17 74 17 0.044 17 5 0 0 0 0.277 17316 chr4 6600012 6600012 A G rs2301790 MAN2B2 Nonsynonymous SNV M395V 0.455 0.432 0.476 157 534 166 0.403 140 116 34 34 33 0.002 17317 chr3 193272443 193272448 GTGTGT - rs113367741 ATP13A4-AS1 0.281 0.237 0.095 96 330 91 0.246 28 82 23 12 19 17318 chr16 30409699 30409699 C T rs9936065 ZNF48 Synonymous SNV R253R 0.078 0.063 0.065 20 92 24 0.051 19 5 0 0 0 10.72 17319 chr16 304514 304514 C T rs3213508 FAM234A Synonymous SNV N34N 0.214 0.25 0.235 82 251 96 0.21 69 22 10 9 13 10.03 17320 chr4 6606864 6606864 A G rs2301788 MAN2B2 Nonsynonymous SNV N490S 0.495 0.477 0.544 194 581 183 0.497 160 137 44 46 51 0.005 17321 chr16 30490776 30490776 G A rs146094039 ITGAL Synonymous SNV S190S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 17322 chr3 193336639 193336639 T C rs3772393 OPA1-AS1 0.393 0.43 0.391 157 461 165 0.403 115 95 34 23 31 Benign 4.782 17323 chr14 69795199 69795199 G A rs12879377 GALNT16 Nonsynonymous SNV V201M 0.388 0.388 0.367 153 455 149 0.392 108 87 33 25 36 15.09 17324 chr14 59978507 59978507 A C rs151312451 CCDC175 Nonsynonymous SNV L705V 0.014 0.005 0 3 17 2 0.008 0 0 0 0 0 14.64 17325 chr16 3063915 3063915 G A rs200866651 CLDN9 Synonymous SNV T184T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.607 17326 chr4 6619165 6619165 A G rs4689489 MAN2B2 Synonymous SNV L869L 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 6.681 17327 chr16 30680538 30680549 GCTGCCGCCGCC - rs747866695 FBRS A846_A849del 0 0 0.003 0 0 0 0 1 0 0 0 0 17328 chr14 69995112 69995112 G A rs55727771 PLEKHD1 Synonymous SNV S499S 0.13 0.102 0.082 53 153 39 0.136 24 4 5 1 2 5.3 17329 chr16 30724070 30724070 G T rs4889500 SRCAP Synonymous SNV R688R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.592 17330 chr14 36158828 36158828 T C rs7155504 RALGAPA1 Nonsynonymous SNV Y883C 0.131 0.115 0 37 154 44 0.095 0 13 3 0 0 13.37 17331 chr4 6619204 6619204 G A rs4689490 MAN2B2 Synonymous SNV V882V 0.829 0.813 0.813 328 973 312 0.841 239 399 122 97 136 9.334 17332 chr16 30734963 30734963 C A rs4889502 SRCAP Synonymous SNV S1406S 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 Benign 12.81 17333 chr14 36780791 36780791 G A rs752112157 MBIP Nonsynonymous SNV R260W 0.005 0 0 0 6 0 0 0 0 0 0 0 34 17334 chr16 30779716 30779716 A G rs7195142 RNF40 Nonsynonymous SNV Q515R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.571 17335 chr4 6698664 6698664 G A rs11737783 S100P Synonymous SNV L61L 0.063 0.055 0.058 22 74 21 0.056 17 0 0 0 0 7.092 17336 chr14 60034964 60034964 C T rs17834244 CCDC175 Nonsynonymous SNV G164R 0.045 0.042 0.031 18 53 16 0.046 9 2 0 0 1 23.7 17337 chr3 194062178 194062178 C T rs1052808254 CPN2 Synonymous SNV L418L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.531 17338 chr4 6698667 6698667 T C rs11734898 S100P Synonymous SNV D62D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.02 17339 chr16 30780828 30780828 A G rs4889506 RNF40 Synonymous SNV L731L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.008 17340 chr14 25076877 25076877 G C rs140193391 GZMH Nonsynonymous SNV P94A 0.157 0.161 0.214 59 184 62 0.151 63 0 0 0 0 0.001 17341 chr16 3079685 3079685 T C rs2244494 BICDL2 Nonsynonymous SNV Q273R 0.338 0.305 0.367 127 397 117 0.326 108 64 15 24 15 21.1 17342 chr4 6698706 6698706 A C rs11733989 S100P Synonymous SNV I75I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 17343 chr4 6925237 6925237 C G rs34860182 TBC1D14 Nonsynonymous SNV L41V 0.164 0.169 0.153 67 193 65 0.172 45 21 9 4 6 0.045 17344 chr16 3085335 3085335 G C rs7204908 BICDL2 Nonsynonymous SNV Q55E 0.363 0.336 0.401 134 426 129 0.344 118 80 19 28 14 20.1 17345 chr14 51054598 51054598 A G rs35014209 ATL1 Synonymous SNV P28P 0.127 0.156 0.112 51 149 60 0.131 33 9 6 3 1 Benign 5.055 17346 chr4 7044357 7044357 A G rs871133 CCDC96 Synonymous SNV V103V 0.896 0.867 0.925 363 1052 333 0.931 272 514 162 130 179 0.263 17347 chr16 3085375 3085375 G A rs11077096 BICDL2 Synonymous SNV G41G 0.369 0.346 0.408 136 433 133 0.349 120 81 21 29 15 6.492 17348 chr4 7044380 7044380 C T rs871134 CCDC96 Nonsynonymous SNV E96K 0.442 0.448 0.452 182 519 172 0.467 133 160 56 37 54 11.73 17349 chr14 64565536 64565536 C T rs36007735 SYNE2 Synonymous SNV S4126S 0.011 0.016 0.01 4 13 6 0.01 3 0 0 0 0 Benign 13.08 17350 chr16 3085924 3085924 G A rs6416816 LOC100128770 0 0 0.806 0 0 0 0 237 0 0 116 0 7.561 17351 chr16 3086447 3086447 C G rs7206805 LOC100128770 0 0 0.415 0 0 0 0 122 0 0 32 0 8.102 17352 chr14 70634768 70634768 G T rs12878498 SLC8A3 Synonymous SNV T124T 0.031 0.039 0.01 9 36 15 0.023 3 1 0 0 0 0.222 17353 chr3 194080696 194080696 G A rs9682541 LRRC15 Synonymous SNV N359N 0.164 0.128 0.16 50 193 49 0.128 47 14 6 6 3 0.002 17354 chr4 7435194 7435194 G A rs12498567 PSAPL1 Synonymous SNV G471G 0.156 0.138 0.099 69 183 53 0.177 29 19 3 2 2 0.656 17355 chr16 30886643 30886643 T C rs897984 MIR4519 0 0 0.697 0 0 0 0 205 0 0 68 0 1.729 17356 chr3 194080916 194080916 G A rs13070515 LRRC15 Nonsynonymous SNV P286L 0.164 0.13 0.16 50 192 50 0.128 47 14 6 6 3 25.3 17357 chr16 30934075 30934075 G A rs3813020 FBXL19-AS1 0 0 0.738 0 0 0 0 217 0 0 76 0 10.11 17358 chr4 7435379 7435379 A G rs4689746 PSAPL1 Synonymous SNV L410L 0.999 0.992 0.997 388 1173 381 0.995 293 586 189 146 193 0.095 17359 chr16 30964940 30964940 A G rs9926903 ORAI3 Synonymous SNV Q221Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.673 17360 chr14 64687305 64687305 G A rs34820571 SYNE2 Nonsynonymous SNV A179T 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 Benign/Likely benign 8.487 17361 chr16 30982821 30982826 TCCTCG - SETD1A S1057_S1058del 0 0 0.003 0 0 0 0 1 0 0 0 0 17362 chr4 7435443 7435443 G A rs6843370 PSAPL1 Synonymous SNV D388D 0.141 0.156 0.129 43 166 60 0.11 38 11 1 3 3 3.579 17363 chr16 30999142 30999142 A G rs9938550 HSD3B7 Nonsynonymous SNV T250A 0.67 0.648 0.735 267 787 249 0.685 216 264 80 75 88 Benign 0.037 17364 chr4 7435901 7435901 C T rs56269914 PSAPL1 Nonsynonymous SNV D236N 0.029 0.026 0.01 14 34 10 0.036 3 1 1 0 0 6.94 17365 chr14 71204973 71204973 C T rs7153601 MAP3K9 Synonymous SNV S353S 0.216 0.245 0.19 87 254 94 0.223 56 29 9 4 14 16.82 17366 chr16 30999462 30999462 T C rs2305880 HSD3B7 Synonymous SNV R356R 0.67 0.654 0.735 266 787 251 0.682 216 264 82 75 87 Benign 2.29 17367 chr3 194081179 194081179 G A rs11715737 LRRC15 Synonymous SNV N198N 0.164 0.128 0.16 50 193 49 0.128 47 14 6 6 3 0.246 17368 chr14 71374702 71374702 G A rs2526882 PCNX1 Synonymous SNV L45L 0.557 0.531 0.575 204 654 204 0.523 169 184 51 51 57 11.5 17369 chr16 3100095 3100095 C T rs10431961 MMP25 Synonymous SNV R106R 0.347 0.326 0.364 112 407 125 0.287 107 74 23 24 9 7.048 17370 chr3 194081392 194081392 G A rs923936 LRRC15 Synonymous SNV L127L 0.161 0.125 0.16 49 189 48 0.126 47 13 6 6 3 0.004 17371 chr14 60405278 60405278 G A rs117109392 LRRC9 Synonymous SNV K238K 0.037 0.042 0.014 16 44 16 0.041 4 1 0 0 0 12.52 17372 chr4 7714490 7714490 T C rs4689833 SORCS2 Synonymous SNV D633D 0.671 0.685 0.673 266 788 263 0.682 198 270 96 64 93 0.213 17373 chr14 71444466 71444466 C G rs144799758 PCNX1 Nonsynonymous SNV T471S 0.032 0.026 0.034 8 37 10 0.021 10 0 0 0 0 Benign 0.001 17374 chr16 31075175 31075175 G A rs2303223 ZNF668 Synonymous SNV G202G 0.471 0.432 0.493 178 553 166 0.456 145 134 35 34 30 10.57 17375 chr4 7716932 7716932 T C rs6816604 SORCS2 Nonsynonymous SNV S716P 0.931 0.932 0.922 371 1093 358 0.951 271 510 166 125 177 0.686 17376 chr16 31075708 31075708 C G rs2032917 ZNF668 Nonsynonymous SNV V25L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.04 17377 chr16 31088347 31088347 G A rs749671 ZNF646 Synonymous SNV E234E 0.462 0.411 0.483 176 542 158 0.451 142 130 32 31 30 0.868 17378 chr4 7717012 7717012 G A rs2285781 SORCS2 Synonymous SNV L742L 0.567 0.503 0.541 214 666 193 0.549 159 195 47 38 61 10.33 17379 chr16 31088625 31088625 A G rs749670 ZNF646 Nonsynonymous SNV E327G 0.474 0.432 0.497 179 556 166 0.459 146 136 35 35 31 16.05 17380 chr4 7770723 7770723 G T rs2285761 AFAP1 Synonymous SNV R672R 0.187 0.185 0.18 57 220 71 0.146 53 19 10 6 6 9.304 17381 chr16 31090120 31090120 C G rs201724134 ZNF646 Nonsynonymous SNV D825E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 20.9 17382 chr14 73008178 73008178 A T rs11628539 RGS6 Nonsynonymous SNV N433Y 0.106 0.112 0.075 31 124 43 0.079 22 10 3 1 0 1.088 17383 chr4 7780582 7780582 C T rs41264705 AFAP1 Nonsynonymous SNV V518M 0.29 0.279 0.252 117 341 107 0.3 74 48 17 9 14 13.21 17384 chr16 31090182 31090182 G T rs200280714 ZNF646 Nonsynonymous SNV G846V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.4 17385 chr14 73014033 73014033 G C rs184519961 RGS6 Nonsynonymous SNV R581T 0.009 0.013 0.01 7 10 5 0.018 3 0 0 0 0 0.267 17386 chr4 7783163 7783163 G A rs28542374 AFAP1 Synonymous SNV S574S 0.66 0.63 0.626 265 775 242 0.679 184 257 79 58 95 9.363 17387 chr16 3109032 3109032 G A rs7188234 MMP25 Nonsynonymous SNV G541E 0.153 0.135 0.116 55 180 52 0.141 34 14 3 5 2 5.317 17388 chr4 7802292 7802292 G A rs11728778 AFAP1 Synonymous SNV T381T 0.296 0.284 0.252 115 348 109 0.295 74 52 17 9 13 11.31 17389 chr14 73425462 73425462 G A rs12882409 DCAF4 Synonymous SNV P419P 0.21 0.206 0.218 83 246 79 0.213 64 29 11 4 9 6.895 17390 chr4 7845067 7845067 G A rs62289296 AFAP1 Synonymous SNV S115S 0.115 0.109 0.054 25 135 42 0.064 16 7 4 0 1 5.764 17391 chr14 65053999 65053999 T C rs45482504 PPP1R36 Nonsynonymous SNV F267L 0.152 0.156 0.136 75 178 60 0.192 40 13 2 4 9 13.71 17392 chr14 60938319 60938319 T C rs35543839 C14orf39 Synonymous SNV A154A 0.012 0.018 0.027 5 14 7 0.013 8 0 0 0 0 8.524 17393 chr14 73440864 73440864 C T rs12931 ZFYVE1 Synonymous SNV T260T 0.486 0.521 0.514 207 571 200 0.531 151 144 49 39 56 10.36 17394 chr16 31121793 31121793 G A rs14235 BCKDK Synonymous SNV T205T 0.456 0.438 0.469 176 535 168 0.451 138 126 35 34 30 Benign 11.82 17395 chr4 7940903 7940903 A G rs7695170 LOC389199 Nonsynonymous SNV Q4R 0.328 0.388 0.323 144 385 149 0.369 95 65 26 14 27 0.003 17396 chr16 31141826 31141826 A G rs1549295 KAT8 Synonymous SNV P352P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.022 17397 chr14 73459917 73459917 C T rs2333016 ZFYVE1 Synonymous SNV E379E 0.404 0.427 0.384 166 474 164 0.426 113 98 33 20 34 13.8 17398 chr16 31141880 31141880 A G rs1549294 KAT8 Synonymous SNV L370L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.044 17399 chr4 7940915 7940915 C T rs7669645 LOC389199 Nonsynonymous SNV P8L 0.323 0.383 0.313 144 379 147 0.369 92 63 25 14 27 12.63 17400 chr14 73465003 73465003 A G rs997667 ZFYVE1 Synonymous SNV F168F 0.381 0.411 0.378 162 447 158 0.415 111 99 33 20 33 0.023 17401 chr16 31153105 31153105 A G rs1549300 PRSS36 Synonymous SNV D561D 0.989 0.995 0.99 387 1161 382 0.992 291 574 190 144 192 0.394 17402 chr14 73716774 73716774 G A rs177393 PAPLN Synonymous SNV T139T 0.313 0.323 0.33 112 367 124 0.287 97 54 20 14 15 11.52 17403 chr16 31154146 31154146 G A rs1549299 PRSS36 Synonymous SNV S423S 0.7 0.716 0.738 289 822 275 0.741 217 293 98 79 106 15.01 17404 chr4 8031471 8031471 A G rs2385904 ABLIM2 Synonymous SNV C128C 0.67 0.682 0.707 282 786 262 0.723 208 266 86 75 107 7.79 17405 chr16 31195279 31195279 C T rs1052352 FUS Synonymous SNV Y96Y 0.687 0.672 0.673 266 807 258 0.682 198 278 85 68 89 Benign 11.72 17406 chr14 61275088 61275088 A G rs758087883 MNAT1 Nonsynonymous SNV K121R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 17407 chr4 8207083 8207083 A G rs2677605 SH3TC1 Synonymous SNV P54P 0.29 0.328 0.388 136 341 126 0.349 114 123 47 36 49 0.006 17408 chr14 73727509 73727509 T G rs177389 PAPLN Nonsynonymous SNV M693R 0.503 0.49 0.466 195 591 188 0.5 137 140 48 38 46 6.11 17409 chr16 31230463 31230463 C T rs7186832 TRIM72 Synonymous SNV R146R 0.782 0.76 0.735 292 918 292 0.749 216 350 109 82 108 13.6 17410 chr14 45711316 45711316 C T rs34862991 MIS18BP1 Nonsynonymous SNV R355Q 0.06 0.052 0.058 18 70 20 0.046 17 2 0 0 0 9.237 17411 chr14 33068660 33068660 T C rs144892695 AKAP6 Synonymous SNV A838A 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 Likely benign 0.364 17412 chr4 8228731 8228731 T C rs1281145 SH3TC1 Nonsynonymous SNV L361P 0.998 0.992 0.997 389 1172 381 0.997 293 585 189 146 194 0.067 17413 chr16 31336719 31336719 G A rs1143682 ITGAM Synonymous SNV T833T 0.434 0.401 0.463 152 509 154 0.39 136 104 31 30 29 4.295 17414 chr14 33069850 33069850 T G AKAP6 Nonsynonymous SNV L861R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 27.1 17415 chr16 31476458 31476458 C T rs11150624 ARMC5 Nonsynonymous SNV A705V 0.527 0.518 0.514 203 619 199 0.521 151 161 53 39 53 0.998 17416 chr14 73735366 73735366 C T rs4903104 PAPLN Nonsynonymous SNV T1201M 0.229 0.211 0.218 80 269 81 0.205 64 29 8 6 7 34 17417 chr14 47426637 47426637 C A rs12590500 MDGA2 Nonsynonymous SNV V608F 0.014 0 0.037 0 16 0 0 11 0 0 0 0 22.9 17418 chr16 31580272 31580272 C T rs4889673 YBX3P1 0 0 0.395 0 0 0 0 116 0 0 24 0 10.11 17419 chr4 8228894 8228894 T C rs1292647 SH3TC1 Synonymous SNV D415D 0.998 0.992 0.993 389 1172 381 0.997 292 585 189 145 194 0.002 17420 chr16 3170188 3170188 C T rs12032 ZNF205 Synonymous SNV C509C 0.406 0.458 0.459 169 477 176 0.433 135 104 45 30 37 11.42 17421 chr4 8228948 8228948 T C rs55642964 SH3TC1 Synonymous SNV P433P 0.34 0.333 0.378 160 399 128 0.41 111 69 25 22 34 0.002 17422 chr16 31926619 31926619 G A rs3850114 ZNF267 Nonsynonymous SNV C350Y 0.963 0.977 0.935 377 1131 375 0.967 275 545 183 130 182 0.002 17423 chr14 35343629 35343629 A C rs2145031 LOC112268124 0.15 0.156 0.204 67 176 60 0.172 60 56 21 12 19 14.37 17424 chr4 8229218 8229218 A G rs1281146 SH3TC1 Synonymous SNV L523L 0.998 0.992 0.997 389 1172 381 0.997 293 585 189 146 194 0.012 17425 chr14 63174960 63174960 C T rs4902176 KCNH5 Nonsynonymous SNV A745T 0.263 0.266 0.323 102 309 102 0.262 95 35 15 14 15 11.49 17426 chr3 195505247 195505247 G T rs76650792 MUC4 Synonymous SNV I54I 0.055 0.078 0.068 31 64 30 0.079 20 2 1 1 3 0.848 17427 chr4 8229326 8229326 T C rs1281147 SH3TC1 Synonymous SNV P559P 0.998 0.992 0.993 389 1172 381 0.997 292 585 189 145 194 0.002 17428 chr16 324052 324052 A G rs2685126 RGS11 Synonymous SNV D129D 0.507 0.534 0.578 213 595 205 0.546 170 197 75 52 70 0.024 17429 chr16 3254993 3254993 C T rs201539092 OR1F1 Synonymous SNV L249L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.911 17430 chr4 8229713 8229713 A G rs1281148 SH3TC1 Synonymous SNV Q688Q 0.78 0.76 0.796 302 916 292 0.774 234 360 112 93 115 0.002 17431 chr14 63246604 63246604 T A KCNH5 Nonsynonymous SNV T621S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.35 17432 chr16 3266071 3266071 A G rs2550401 OR1F2P 0 0 0.429 0 0 0 0 126 0 0 25 0 1.925 17433 chr4 8229774 8229774 C T rs1281149 SH3TC1 Nonsynonymous SNV R709C 0.796 0.789 0.803 303 935 303 0.777 236 376 119 96 115 10.44 17434 chr16 3293888 3293888 C T rs1231122 MEFV Nonsynonymous SNV G436R 0.474 0.474 0.473 210 556 182 0.538 139 130 41 35 56 Benign 9.743 17435 chr4 8230070 8230070 T C rs1281150 SH3TC1 Synonymous SNV A807A 0.781 0.766 0.772 302 917 294 0.774 227 361 114 92 115 0.002 17436 chr16 3293922 3293922 A T rs1231123 MEFV Nonsynonymous SNV D424E 0.469 0.469 0.473 208 551 180 0.533 139 126 41 35 55 Benign 1.921 17437 chr4 8230235 8230235 T C rs1281151 SH3TC1 Synonymous SNV L862L 0.802 0.794 0.82 304 942 305 0.779 241 378 121 99 116 0.002 17438 chr16 3297073 3297073 A G rs224206 MEFV Synonymous SNV D299D 0.525 0.516 0.524 177 616 198 0.454 154 160 48 43 39 Benign 0.015 17439 chr4 8235220 8235220 C A rs111285143 SH3TC1 Nonsynonymous SNV L1012M 0.026 0.016 0.027 6 30 6 0.015 8 0 0 1 0 26.3 17440 chr14 65263347 65263347 C T rs229586 SPTB Synonymous SNV L423L 0.261 0.268 0.262 124 307 103 0.318 77 41 12 11 17 Benign/Likely benign 14.95 17441 chr16 3297175 3297175 T C rs224207 MEFV Synonymous SNV Q265Q 0.522 0.516 0.52 176 613 198 0.451 153 159 48 42 38 Benign 0.002 17442 chr14 65271780 65271780 G A rs2277503 SPTB Synonymous SNV T59T 0.055 0.06 0.054 22 65 23 0.056 16 1 0 0 2 Benign/Likely benign 13.38 17443 chr16 3297181 3297181 C T rs224208 MEFV Synonymous SNV E263E 0.522 0.516 0.52 176 613 198 0.451 153 159 48 42 38 Benign 7.603 17444 chr4 8238151 8238151 C T rs11603 SH3TC1 Synonymous SNV T1108T 0.371 0.396 0.378 161 436 152 0.413 111 77 37 24 34 10.73 17445 chr16 3299749 3299749 G A rs224213 MEFV Synonymous SNV R103R 0.528 0.521 0.531 178 620 200 0.456 156 160 50 43 38 Benign 0.816 17446 chr14 50133057 50133057 C T rs3218798 POLE2 Synonymous SNV Q163Q 0.019 0.008 0.024 3 22 3 0.008 7 0 0 0 0 11.87 17447 chr16 334580 334580 G C rs432925 PDIA2 Synonymous SNV P131P 0.323 0.349 0.296 145 379 134 0.372 87 59 26 14 29 0.861 17448 chr4 8242466 8242466 A G rs1281103 SH3TC1 Synonymous SNV A1189A 0.997 0.992 0.997 389 1171 381 0.997 293 584 189 146 194 0.587 17449 chr14 68024134 68024134 A T rs3825723 PLEKHH1 Nonsynonymous SNV Q113L 0.146 0.112 0.153 51 171 43 0.131 45 12 4 2 3 28.9 17450 chr4 8288399 8288399 C T rs112517429 HTRA3 Synonymous SNV A199A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 9.798 17451 chr16 334732 334732 C T rs45593734 PDIA2 Synonymous SNV D160D 0.181 0.159 0.153 88 213 61 0.226 45 21 7 4 7 10.05 17452 chr14 64194459 64194459 A C rs8006901 SGPP1 Synonymous SNV P68P 0.014 0.013 0.01 10 17 5 0.026 3 0 0 0 0 0.3 17453 chr4 8582742 8582742 C T rs17844776 GPR78 Synonymous SNV L11L 0.389 0.378 0.333 172 457 145 0.441 98 87 29 22 40 10.72 17454 chr16 334890 334890 G A rs419949 PDIA2 Nonsynonymous SNV E185K 0.162 0.177 0.136 64 190 68 0.164 40 16 9 3 5 9.093 17455 chr14 52526891 52526891 G A rs112271442 NID2 Nonsynonymous SNV P240S 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 22.8 17456 chr4 8582856 8582856 T G rs17844777 GPR78 Synonymous SNV S49S 0.394 0.401 0.357 174 463 154 0.446 105 88 30 22 40 1.333 17457 chr4 8583312 8583312 A C rs17844778 GPR78 Nonsynonymous SNV R201S 0.394 0.396 0.357 173 463 152 0.444 105 87 30 22 40 1.725 17458 chr16 335373 335373 C T rs2685127 PDIA2 Nonsynonymous SNV T286M 0.08 0.065 0.048 35 94 25 0.09 14 4 2 1 2 25.1 17459 chr16 336396 336396 G A rs400037 PDIA2 Nonsynonymous SNV R388Q 0.162 0.172 0.143 64 190 66 0.164 42 16 8 3 6 7.569 17460 chr4 8594574 8594574 T C rs2302583 CPZ Nonsynonymous SNV L5P 0.765 0.779 0.755 301 898 299 0.772 222 351 118 88 113 5.798 17461 chr14 52794007 52794007 A G rs2229187 PTGER2 Synonymous SNV L304L 0.053 0.039 0.051 15 62 15 0.038 15 3 1 0 0 11 17462 chr14 68159269 68159269 C T rs80140987 RDH11 Nonsynonymous SNV E79K 0.028 0.023 0.041 3 33 9 0.008 12 1 0 0 0 34 17463 chr3 195594805 195594805 A G rs1056749 TNK2 Synonymous SNV A805A 0.14 0.148 0.122 62 164 57 0.159 36 13 5 5 3 Benign 0.431 17464 chr16 336916 336916 C T rs1048786 PDIA2 Nonsynonymous SNV P502S 0.173 0.156 0.153 86 203 60 0.221 45 23 8 4 8 7.109 17465 chr4 8594577 8594577 C T rs34964084 CPZ Nonsynonymous SNV P6L 0.204 0.211 0.17 70 240 81 0.179 50 25 9 5 6 9.861 17466 chr3 195594950 195594950 G A rs56260729 TNK2 Nonsynonymous SNV P757L 0.197 0.185 0.204 60 231 71 0.154 60 23 8 12 0 Benign 0.063 17467 chr14 74711883 74711883 C T rs35435463 VSX2 Synonymous SNV S157S 0.429 0.417 0.395 178 504 160 0.456 116 99 34 25 43 Benign 16.5 17468 chr16 3405994 3405994 A G rs1228348 OR2C1 Synonymous SNV S18S 0.788 0.794 0.776 316 925 305 0.81 228 368 121 88 128 0.008 17469 chr4 8602884 8602884 T C rs4301095 CPZ Synonymous SNV S41S 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.189 17470 chr16 3406387 3406387 C G rs1218763 OR2C1 Nonsynonymous SNV C149W 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.429 17471 chr3 195615376 195615376 A G rs3747669 TNK2 Synonymous SNV D52D 0.354 0.32 0.344 133 416 123 0.341 101 73 18 21 21 Benign 0.016 17472 chr4 8602935 8602935 A G rs4431213 CPZ Synonymous SNV S58S 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.106 17473 chr4 8605818 8605818 C T rs6852001 CPZ Synonymous SNV C193C 0.215 0.234 0.19 70 252 90 0.179 56 23 12 6 5 17.09 17474 chr16 3452193 3452193 T G rs37811 ZNF174 Synonymous SNV A63A 0.79 0.797 0.799 321 927 306 0.823 235 373 122 93 130 0.869 17475 chr3 195800811 195800811 C T rs3817672 TFRC Nonsynonymous SNV G61S 0.576 0.555 0.497 216 676 213 0.554 146 203 63 39 61 4.709 17476 chr16 347184 347184 A G rs214252 AXIN1 Synonymous SNV A609A 0.21 0.237 0.207 87 246 91 0.223 61 27 12 8 10 0.105 17477 chr4 8616096 8616096 T C rs1131140 CPZ Synonymous SNV D447D 0.555 0.599 0.619 245 652 230 0.628 182 176 72 59 71 0.734 17478 chr14 64560091 64560091 T C rs2792205 SYNE2 Nonsynonymous SNV W4001R 0.091 0.078 0.082 37 107 30 0.095 24 10 0 0 0 Benign 19.26 17479 chr16 348222 348222 C T rs214250 AXIN1 Synonymous SNV S428S 0.21 0.234 0.204 87 247 90 0.223 60 28 13 7 10 14.6 17480 chr4 8616179 8616179 T C rs7378066 CPZ Nonsynonymous SNV I475T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.47 17481 chr16 3487201 3487201 G A rs2270492 ZNF597 Synonymous SNV S166S 0.052 0.044 0.034 14 61 17 0.036 10 6 0 0 0 4.384 17482 chr14 64560092 64560092 G A rs2781377 SYNE2 Stop gain W4001X 0.091 0.078 0.082 37 107 30 0.095 24 10 0 0 0 Benign 37 17483 chr16 3490879 3490879 T A rs2270493 ZNF597 Nonsynonymous SNV T30S 0.052 0.044 0.037 14 61 17 0.036 11 6 0 0 0 0.65 17484 chr4 8621194 8621194 A G rs28514374 CPZ Synonymous SNV P592P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.164 17485 chr14 69341653 69341653 T A rs11557769 ACTN1 Nonsynonymous SNV T868S 0.036 0.039 0.034 15 42 15 0.038 10 0 2 0 0 5.944 17486 chr16 3490922 3490922 G C rs2270494 ZNF597 Synonymous SNV L15L 0.468 0.474 0.514 219 550 182 0.562 151 149 42 41 61 3.798 17487 chr4 8869587 8869587 T C rs13303225 HMX1 Synonymous SNV A293A 0.748 0.753 0.483 293 878 289 0.751 142 401 137 66 135 Benign 9.9 17488 chr3 196050834 196050834 C T rs35643777 TM4SF19 Nonsynonymous SNV V136I 0.158 0.13 0.136 60 185 50 0.154 40 12 2 0 2 18.39 17489 chr16 3498499 3498499 G A rs61748354 NAA60 Synonymous SNV R30R 0.052 0.044 0.037 14 61 17 0.036 11 6 0 0 0 1.903 17490 chr4 9909923 9909923 G A rs2280205 SLC2A9 Nonsynonymous SNV P350L 0.452 0.461 0.497 202 531 177 0.518 146 121 38 40 50 Benign 10.57 17491 chr16 3533577 3533577 C G rs1137454 NAA60 Synonymous SNV G119G 0.671 0.674 0.704 268 788 259 0.687 207 269 85 73 94 3.396 17492 chr3 196051131 196051131 C T rs57405871 TM4SF19-AS1 0.158 0.13 0.136 59 185 50 0.151 40 12 2 0 2 1.761 17493 chr14 74991855 74991855 A G rs862031 LTBP2 Synonymous SNV T834T 0.617 0.674 0.639 249 724 259 0.638 188 230 84 59 75 0.167 17494 chr16 3534892 3534892 G A rs13740 NAA60 Nonsynonymous SNV R180Q 0.687 0.703 0.711 272 807 270 0.697 209 279 94 77 98 4.806 17495 chr14 74992800 74992800 A G rs699374 LTBP2 Synonymous SNV T802T 0.253 0.24 0.248 98 297 92 0.251 73 28 12 11 8 Benign 0.065 17496 chr4 9982330 9982330 A G rs13125646 SLC2A9 Synonymous SNV L189L 0.742 0.703 0.735 293 871 270 0.751 216 328 97 75 106 Benign 0.764 17497 chr16 3602228 3602228 G - rs398078461 NLRC3 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17498 chr4 9998440 9998440 C T rs10939650 SLC2A9 Synonymous SNV T125T 0.689 0.656 0.704 268 809 252 0.687 207 283 82 71 90 Benign 15.7 17499 chr16 3656525 3656525 C T rs138615800 SLX4 Nonsynonymous SNV R237Q 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Benign/Likely benign 0.008 17500 chr3 196235010 196235010 C T rs75602156 SMCO1 Synonymous SNV L131L 0.031 0.023 0.048 11 36 9 0.028 14 0 0 1 1 7.348 17501 chr14 55902624 55902624 A G rs925996029 TBPL2 Nonsynonymous SNV C213R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 17502 chr14 75359670 75359670 G A rs2230237 DLST Synonymous SNV Q192Q 0.507 0.497 0.473 184 595 191 0.472 139 152 50 37 41 4.121 17503 chr4 9998493 9998493 A G rs13113918 SLC2A9 Synonymous SNV L108L 0.741 0.701 0.762 283 870 269 0.726 224 327 94 85 101 Benign 3.179 17504 chr16 3779248 3779248 A G rs587783504 CREBBP Nonsynonymous SNV S1896P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.3 17505 chr4 10022981 10022981 C T rs2276961 SLC2A9 Nonsynonymous SNV G25R 0.496 0.484 0.52 190 582 186 0.487 153 147 42 45 41 Benign 15.06 17506 chr3 196388099 196388099 G C rs62623661 NRROS Nonsynonymous SNV A529P 0.181 0.19 0.224 68 213 73 0.174 66 17 3 8 5 0.115 17507 chr16 396264 396264 A G rs1805105 AXIN1 Synonymous SNV D254D 0.554 0.563 0.599 222 650 216 0.569 176 182 62 59 65 Benign 0.002 17508 chr4 10027542 10027542 C T rs6820230 SLC2A9 Nonsynonymous SNV A17T 0.238 0.25 0.194 110 279 96 0.282 57 39 17 3 11 4.742 17509 chr14 56096731 56096731 A G rs2274075 KTN1 Synonymous SNV R379R 0.103 0.096 0.082 36 121 37 0.092 24 6 1 2 2 7.598 17510 chr16 4016049 4016049 G A rs11543317 ADCY9 Synonymous SNV R1263R 0.039 0.036 0.048 16 46 14 0.041 14 1 1 0 0 8.037 17511 chr14 56146357 56146357 G A rs11546 KTN1 Synonymous SNV A1284A 0.103 0.096 0.099 36 121 37 0.092 29 6 1 2 2 15.44 17512 chr14 39901258 39901266 GTCGCAGCT - rs535061628 FBXO33 Q34_R36del 0.038 0.047 0.037 15 45 18 0.038 11 5 1 0 2 17513 chr16 4016377 4016377 T C rs61731445 ADCY9 Nonsynonymous SNV N1154S 0.038 0.036 0.048 16 45 14 0.041 14 1 1 0 0 0.336 17514 chr4 10099340 10099340 T C rs13441 WDR1 Nonsynonymous SNV I185V 0.772 0.813 0.731 277 906 312 0.71 215 355 124 84 95 2.374 17515 chr14 64633984 64633984 G A rs17179194 SYNE2 Nonsynonymous SNV D5547N 0.035 0.042 0.031 13 41 16 0.033 9 1 0 0 0 Benign/Likely benign 24.2 17516 chr16 4016676 4016676 A G rs2230742 ADCY9 Synonymous SNV H1054H 0.838 0.839 0.881 337 984 322 0.864 259 408 137 112 144 0.099 17517 chr14 75513828 75513828 G A rs175080 MLH3 Nonsynonymous SNV P844L 0.471 0.469 0.442 175 553 180 0.449 130 137 44 33 37 Benign 5.081 17518 chr4 10446385 10446385 C T rs9291410 ZNF518B Nonsynonymous SNV S523N 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.027 17519 chr14 70263648 70263648 C T rs4646285 SLC10A1 Synonymous SNV T75T 0.072 0.083 0.088 15 85 32 0.038 26 2 2 0 0 14.26 17520 chr16 4165432 4165432 T C rs2530898 ADCY9 Synonymous SNV P4P 1 1 0.935 389 1174 384 0.997 275 587 192 137 194 0.233 17521 chr16 419092 419092 A G rs3830160 MRPL28 Synonymous SNV Y139Y 0.506 0.523 0.551 217 594 201 0.556 162 142 53 51 65 0.027 17522 chr14 45693929 45693929 C T rs75790782 MIS18BP1 Nonsynonymous SNV V621I 0.027 0.023 0.02 4 32 9 0.01 6 1 0 0 0 10.11 17523 chr4 10446906 10446906 A G rs10016022 ZNF518B Synonymous SNV D349D 0.751 0.732 0.789 285 882 281 0.731 232 328 100 89 99 1.412 17524 chr16 419154 419154 G A rs1802752 MRPL28 Synonymous SNV L119L 0.165 0.138 0.146 93 194 53 0.238 43 15 4 4 14 9.786 17525 chr14 64685212 64685212 A G rs45453691 SYNE2 Nonsynonymous SNV I55V 0.036 0.039 0.027 12 42 15 0.031 8 2 0 0 0 Benign 0.002 17526 chr14 70634546 70634546 C T rs7161524 SLC8A3 Synonymous SNV K198K 0.249 0.26 0.197 80 292 100 0.205 58 34 17 4 8 7.827 17527 chr16 420140 420140 G A rs3194151 MRPL28 Nonsynonymous SNV H27Y 0.166 0.135 0.146 93 195 52 0.238 43 14 3 4 13 23.9 17528 chr4 10502937 10502937 T G rs2903960 CLNK Synonymous SNV I361I 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 9.807 17529 chr4 11401012 11401012 A G rs1047385 HS3ST1 Synonymous SNV F206F 0.233 0.208 0.187 96 274 80 0.246 55 36 10 5 16 0.011 17530 chr14 75535927 75535927 G A rs175499 ACYP1 Nonsynonymous SNV A23V 0.462 0.471 0.449 175 542 181 0.449 132 140 47 34 37 7.116 17531 chr16 420179 420179 G A rs11557300 MRPL28 Synonymous SNV L14L 0.121 0.094 0.109 61 142 36 0.156 32 8 2 1 5 2.342 17532 chr4 11401087 11401087 A G rs1047389 HS3ST1 Synonymous SNV D181D 0.228 0.206 0.187 92 268 79 0.236 55 35 10 5 15 0.596 17533 chr16 4245693 4245693 A G rs10852643 SRL Synonymous SNV R157R 0.716 0.703 0.806 278 841 270 0.713 237 299 98 97 95 4.999 17534 chr4 13590381 13590381 T C rs777164254 BOD1L1 Nonsynonymous SNV I2749V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 17535 chr16 426432 426432 T C rs2071915 PGAP6 Nonsynonymous SNV I310V 0.492 0.51 0.52 215 578 196 0.551 153 133 50 46 66 0.001 17536 chr4 13604182 13604182 T C rs17745676 BOD1L1 Nonsynonymous SNV T1448A 0.198 0.182 0.201 67 233 70 0.172 59 24 8 6 4 0.277 17537 chr14 45658024 45658024 C T rs61746943 FANCM Nonsynonymous SNV T1574I 0.009 0.005 0 8 11 2 0.021 0 0 0 0 0 Benign 26.8 17538 chr16 427479 427479 T C rs11248931 PGAP6 Nonsynonymous SNV T136A 0.505 0.518 0.527 217 593 199 0.556 155 138 53 48 67 0.001 17539 chr3 196792663 196792663 C A rs148283553 DLG1 Nonsynonymous SNV V601L 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 28 17540 chr4 13604418 13604418 G C rs17745712 BOD1L1 Nonsynonymous SNV A1369G 0.196 0.182 0.201 65 230 70 0.167 59 25 8 6 4 0.019 17541 chr16 427516 427516 T C rs11649031 PGAP6 Synonymous SNV V123V 0.507 0.518 0.531 219 595 199 0.562 156 139 53 48 67 0.088 17542 chr14 45693648 45693648 G A rs35223850 MIS18BP1 Synonymous SNV C714C 0.035 0.023 0.007 10 41 9 0.026 2 1 0 0 0 3.622 17543 chr3 197401952 197401952 T C rs28562770 RUBCN Synonymous SNV S952S 0.111 0.122 0.092 42 130 47 0.108 27 9 5 0 1 Likely benign 1.735 17544 chr16 427784 427784 G A rs11641742 PGAP6 Synonymous SNV Y62Y 0.495 0.516 0.52 215 581 198 0.551 153 134 52 46 66 9.549 17545 chr16 427820 427820 C T rs12922073 PGAP6 Synonymous SNV S50S 0.495 0.516 0.52 215 581 198 0.551 153 134 52 46 66 19.22 17546 chr14 75590846 75590846 A T rs175449 NEK9 Synonymous SNV I100I 0.504 0.526 0.486 182 592 202 0.467 143 149 56 39 41 0.309 17547 chr4 13606576 13606576 A T rs1971278 BOD1L1 Nonsynonymous SNV L650I 0.809 0.779 0.81 307 950 299 0.787 238 386 115 98 118 0.001 17548 chr3 197403844 197403844 T C rs61742251 RUBCN Nonsynonymous SNV N853S 0.009 0.01 0.007 2 11 4 0.005 2 1 0 0 0 6.893 17549 chr16 4310468 4310468 C G rs251732 TFAP4 Nonsynonymous SNV Q218H 0.513 0.536 0.541 195 602 206 0.5 159 157 51 44 44 17.33 17550 chr14 73219992 73219992 C A DPF3 Nonsynonymous SNV R94L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.2 17551 chr4 13615174 13615174 G A rs2035820 BOD1L1 Nonsynonymous SNV T429M 0.197 0.182 0.201 65 231 70 0.167 59 25 8 6 4 2.28 17552 chr3 197427557 197427557 A G rs28394098 RUBCN Synonymous SNV T336T 0.1 0.12 0.095 40 117 46 0.103 28 8 5 0 1 Likely benign 0.114 17553 chr16 4386814 4386814 T C rs669561 GLIS2 Synonymous SNV Y288Y 0.987 0.99 0.983 383 1159 380 0.982 289 572 188 142 188 Benign 9.343 17554 chr14 76045691 76045691 C T rs8011292 FLVCR2 Synonymous SNV L126L 0.171 0.182 0.197 78 201 70 0.2 58 14 5 5 6 Benign/Likely benign 17.84 17555 chr14 66082793 66082793 A C rs2229678 FUT8 Nonsynonymous SNV K101Q 0.015 0.013 0.014 4 18 5 0.01 4 0 0 0 0 13.21 17556 chr16 4431202 4431202 A G rs758044 VASN Synonymous SNV T108T 0.808 0.813 0.816 318 949 312 0.815 240 376 131 100 130 0.015 17557 chr3 197432000 197432000 C T rs112632845 RUBCN Nonsynonymous SNV R29Q 0.009 0.01 0.007 2 11 4 0.005 2 1 0 0 0 29.2 17558 chr16 4432029 4432029 A C rs3810818 VASN Nonsynonymous SNV E384A 0.784 0.792 0.786 312 921 304 0.8 231 353 124 94 125 0.11 17559 chr4 15569018 15569018 G A rs73125627 CC2D2A Synonymous SNV S1067S 0.233 0.245 0.228 94 274 94 0.241 67 33 9 4 10 Benign/Likely benign 3.138 17560 chr14 66136163 66136163 C A rs35949016 FUT8 Nonsynonymous SNV T104K 0.21 0.227 0.218 83 246 87 0.213 64 27 12 6 9 15.56 17561 chr14 73404752 73404752 G C rs2302588 DCAF4 Nonsynonymous SNV W22C 0.15 0.169 0.133 56 176 65 0.144 39 18 6 4 3 23.9 17562 chr4 15689928 15689928 G A rs4235380 FAM200B Nonsynonymous SNV S443N 0.293 0.299 0.296 115 344 115 0.295 87 47 19 9 18 3.032 17563 chr16 4445327 4445327 C T rs3747579 CORO7, CORO7-PAM16 Nonsynonymous SNV R108Q 0.716 0.714 0.759 279 840 274 0.715 223 295 101 87 99 26.7 17564 chr14 76368544 76368544 T C rs1133834 TTLL5 Nonsynonymous SNV F1267S 0.238 0.227 0.221 97 279 87 0.249 65 30 7 8 8 Benign 13.65 17565 chr3 197432029 197432029 C A rs60457064 RUBCN Synonymous SNV T19T 0.1 0.12 0.095 40 117 46 0.103 28 8 5 0 1 Likely benign 21.6 17566 chr14 65249052 65249052 C G rs17245552 SPTB Nonsynonymous SNV G1408R 0.028 0.018 0.024 8 33 7 0.021 7 1 0 0 0 Benign/Likely benign 34 17567 chr14 68029386 68029386 G A rs1885043 PLEKHH1 Synonymous SNV V346V 0.056 0.047 0.078 32 66 18 0.082 23 2 1 1 4 7.438 17568 chr14 73422259 73422259 C G rs3815460 DCAF4 Nonsynonymous SNV S285C 0.151 0.169 0.133 52 177 65 0.133 39 18 6 4 2 26.4 17569 chr4 15690233 15690233 C A rs6449160 FAM200B Nonsynonymous SNV H545N 0.99 0.987 0.969 379 1162 379 0.972 285 575 187 141 184 3.148 17570 chr16 4476089 4476089 T C rs1139652 DNAJA3 Nonsynonymous SNV Y33H 0.727 0.732 0.752 288 853 281 0.738 221 300 102 82 104 1.094 17571 chr14 76666272 76666272 T C rs11159185 GPATCH2L Synonymous SNV A446A 0.641 0.651 0 235 753 250 0.603 0 232 81 0 70 1.191 17572 chr14 76666273 76666273 G A rs117019393 GPATCH2L Nonsynonymous SNV G447R 0.052 0.036 0 27 61 14 0.069 0 0 0 0 2 1.282 17573 chr4 15937731 15937731 T C rs2072313 FGFBP1 Synonymous SNV K175K 0.966 0.971 0.986 381 1134 373 0.977 290 548 181 143 187 0.008 17574 chr16 4484396 4484396 A T rs1139653 DNAJA3 Nonsynonymous SNV N75Y 0.71 0.721 0.759 287 833 277 0.736 223 284 100 85 103 0.532 17575 chr4 15964501 15964501 G A rs2286459 FGFBP2 Synonymous SNV F84F 0.58 0.544 0.558 219 681 209 0.562 164 202 51 40 58 8.28 17576 chr14 50579357 50579357 A G rs117179687 VCPKMT Synonymous SNV I217I 0.002 0.016 0.007 2 2 6 0.005 2 0 0 0 0 9.767 17577 chr14 73448583 73448583 G A rs2286838 ZFYVE1 Synonymous SNV S408S 0.145 0.164 0.126 50 170 63 0.128 37 14 6 3 2 9.087 17578 chr16 449659 449659 G A rs14293 NME4 Synonymous SNV S86S 0.405 0.414 0.391 170 475 159 0.436 115 96 30 21 34 1.252 17579 chr3 197670652 197670652 G A rs3828371 IQCG Synonymous SNV C93C 0.043 0.07 0.017 19 51 27 0.049 5 0 0 1 0 8.058 17580 chr4 15964573 15964573 A G rs758328 FGFBP2 Synonymous SNV R60R 0.998 0.997 0.99 385 1172 383 0.987 291 585 191 145 190 0.031 17581 chr4 264941 264941 A G rs11731285 ZNF732 Nonsynonymous SNV W569R 0.2 0.167 0.177 97 235 64 0.249 52 31 9 7 14 0.002 17582 chr16 4496973 4496973 T A rs2304633 DNAJA3 Synonymous SNV G208G 0.682 0.695 0.718 280 801 267 0.718 211 264 92 74 98 5.872 17583 chr4 17503382 17503382 C T rs2597775 QDPR Synonymous SNV L101L 0.36 0.357 0.364 145 423 137 0.372 107 77 25 19 30 Benign 14.43 17584 chr16 450165 450165 T C rs448063 NME4 Nonsynonymous SNV I166T 0.418 0.435 0.425 171 491 167 0.438 125 101 32 23 36 3.687 17585 chr14 68193731 68193731 G A rs17852293 RDH12 Nonsynonymous SNV R161Q 0.115 0.112 0.109 53 135 43 0.136 32 10 2 3 2 Benign/Likely benign 13.15 17586 chr4 17517099 17517099 A G rs1551091 CLRN2 Synonymous SNV K70K 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 0.696 17587 chr16 450309 450309 C T rs5841 NME4 Synonymous SNV D143D 0.394 0.385 0.337 165 463 148 0.423 99 89 27 20 35 12.87 17588 chr16 4519548 4519548 A G rs62039231 NMRAL1 Nonsynonymous SNV V16A 0.657 0.698 0.721 268 771 268 0.687 212 251 94 76 88 6.84 17589 chr4 17586703 17586703 T C rs3733576 LAP3 Synonymous SNV A216A 0.594 0.604 0.646 212 697 232 0.544 190 200 71 63 59 5.017 17590 chr14 77492891 77492891 G A rs879027 IRF2BPL Synonymous SNV Y415Y 0.524 0.552 0.558 208 615 212 0.533 164 150 58 43 60 8.816 17591 chr16 4625470 4625470 C G rs77379438 C16orf96 Nonsynonymous SNV P330R 0.079 0.104 0.075 38 93 40 0.097 22 6 1 1 2 22.9 17592 chr4 467962 467962 G A rs140381713 ABCA11P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.814 17593 chr4 17634213 17634213 A G rs6825562 FAM184B Nonsynonymous SNV V1042A 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 2.44 17594 chr14 77493788 77493788 C T rs28692724 IRF2BPL Synonymous SNV Q116Q 0.411 0.474 0.048 173 483 182 0.444 14 130 58 6 48 0.097 17595 chr14 77493792 77493794 TGT - rs773628724 IRF2BPL Q127del 0.406 0.461 0.048 158 477 177 0.405 14 125 53 6 36 17596 chr16 46565019 46565019 T G rs1436436 ANKRD26P1 0 0 0.963 0 0 0 0 283 0 0 141 0 0.248 17597 chr4 17643848 17643848 G A rs2286771 FAM184B Nonsynonymous SNV R784W 0.382 0.411 0.524 149 449 158 0.382 154 156 55 47 47 24.2 17598 chr14 68236320 68236320 C T rs61746722 ZFYVE26 Nonsynonymous SNV C1871Y 0.049 0.06 0.034 24 58 23 0.062 10 3 1 1 1 Benign 5.74 17599 chr14 77493875 77493875 T C rs71428775 IRF2BPL Synonymous SNV E87E 0.273 0.289 0.456 136 320 111 0.349 134 120 45 28 54 0.009 17600 chr14 51111485 51111485 T C rs36100794 SAV1 Synonymous SNV Q261Q 0.036 0.052 0.065 14 42 20 0.036 19 1 0 0 0 0.135 17601 chr16 46655210 46655210 A G rs6598679 SHCBP1 Nonsynonymous SNV M21T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 17602 chr14 77605758 77605758 G A rs117728828 ZDHHC22 Synonymous SNV D108D 0.071 0.073 0.048 34 83 28 0.087 14 2 2 0 0 7.824 17603 chr4 17660082 17660082 C T rs1860596 FAM184B Nonsynonymous SNV R643H 0.541 0.542 0.561 191 635 208 0.49 165 160 59 48 46 7.493 17604 chr16 46696284 46696284 G A rs168745 VPS35 Synonymous SNV H646H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.711 17605 chr16 4748825 4748825 C T rs841214 ANKS3 Synonymous SNV Q336Q 0.471 0.482 0.5 198 553 185 0.508 147 140 47 36 45 13.11 17606 chr4 17694943 17694943 A G rs3733579 FAM184B Synonymous SNV L490L 0.56 0.581 0.602 194 658 223 0.497 177 173 62 56 49 0.916 17607 chr16 4751045 4751045 C T rs863980 ANKS3 Nonsynonymous SNV A231T 0.524 0.523 0.537 207 615 201 0.531 158 173 57 40 51 0.081 17608 chr14 74203789 74203789 G A rs17782124 ELMSAN1 Nonsynonymous SNV P554L 0.208 0.214 0.214 83 244 82 0.213 63 22 8 8 7 5.125 17609 chr4 17711076 17711076 T C rs3733583 FAM184B Synonymous SNV Q111Q 0.86 0.823 0.816 345 1010 316 0.885 240 431 131 101 152 0.046 17610 chr14 56079039 56079039 A T rs34879854 KTN1 Synonymous SNV A91A 0.044 0.052 0.044 7 52 20 0.018 13 2 0 0 0 0.181 17611 chr16 4752134 4752134 A G rs841210 ANKS3 Synonymous SNV D153D 0.509 0.513 0.517 203 598 197 0.521 152 160 54 37 47 0.115 17612 chr4 20544184 20544184 C T rs7690492 SLIT2 Synonymous SNV V733V 0.238 0.26 0.252 94 279 100 0.241 74 33 16 8 14 12.94 17613 chr14 56138358 56138358 C T rs41304375 KTN1 Synonymous SNV S1112S 0.015 0.008 0.027 2 18 3 0.005 8 0 0 0 0 Benign 17.77 17614 chr14 74205878 74205878 C T rs17782128 ELMSAN1 Synonymous SNV P278P 0.204 0.211 0.19 83 240 81 0.213 56 22 8 8 7 1.582 17615 chr16 4790273 4790273 G A rs859305 C16orf71 Synonymous SNV E132E 0.587 0.573 0.592 240 689 220 0.615 174 206 64 50 71 0.638 17616 chr4 20552510 20552510 A C rs17542486 SLIT2 Synonymous SNV A846A 0.12 0.115 0.116 57 141 44 0.146 34 9 3 0 3 1.532 17617 chr16 4794873 4794873 C T rs2075469 C16orf71 Nonsynonymous SNV R302C 0.601 0.591 0.599 243 705 227 0.623 176 217 67 51 72 22.9 17618 chr4 20852166 20852166 A G rs3765121 KCNIP4 Synonymous SNV N42N 0.386 0.406 0.452 162 453 156 0.415 133 95 34 31 30 9.659 17619 chr14 74206658 74206658 G A rs758773 ELMSAN1 Synonymous SNV F18F 0.207 0.214 0.218 83 243 82 0.213 64 22 8 8 7 5.784 17620 chr16 4796393 4796393 A G rs737700 C16orf71 Nonsynonymous SNV Q354R 0.629 0.607 0.622 251 738 233 0.644 183 235 69 55 76 0.001 17621 chr4 20852244 20852244 A G rs3765122 KCNIP4 Synonymous SNV P16P 0.39 0.406 0.463 160 458 156 0.41 136 95 34 31 30 5.641 17622 chr14 69966850 69966850 G A rs4902723 PLEKHD1 Synonymous SNV E56E 0.126 0.109 0.122 54 148 42 0.138 36 9 4 3 5 10.78 17623 chr4 22439914 22439914 A C rs6823735 ADGRA3 Synonymous SNV P350P 0.647 0.646 0.585 271 760 248 0.695 172 247 78 62 96 5.122 17624 chr14 57741550 57741550 A G rs1189899 AP5M1 Synonymous SNV Q221Q 0.09 0.078 0.099 25 106 30 0.064 29 3 0 0 0 5.911 17625 chr16 4797457 4797457 C T rs17853375 C16orf71 Nonsynonymous SNV P465L 0.58 0.573 0.575 235 681 220 0.603 169 196 63 47 63 15.76 17626 chr4 23815522 23815522 C T rs3755863 PPARGC1A Synonymous SNV T401T 0.477 0.466 0.429 188 560 179 0.482 126 137 42 24 41 11.63 17627 chr4 647931 647931 G A rs75695239 PDE6B Synonymous SNV T26T 0.068 0.06 0.048 25 80 23 0.064 14 0 2 0 0 Benign/Likely benign 11.02 17628 chr4 23815662 23815662 C T rs8192678 PPARGC1A Nonsynonymous SNV G355S 0.378 0.365 0.337 156 444 140 0.4 99 88 24 16 27 12.79 17629 chr14 60474859 60474859 G A rs35427175 LRRC9 Stop gain W1038X 0.034 0.018 0.017 7 40 7 0.018 5 1 0 0 0 42 17630 chr16 4802386 4802386 G T rs3747602 ZNF500 Synonymous SNV A478A 0.606 0.578 0.565 244 711 222 0.626 166 217 63 49 71 2.323 17631 chr16 48122582 48122582 G A rs7193955 ABCC12 Nonsynonymous SNV R1117C 0.767 0.763 0.731 296 900 293 0.759 215 338 108 84 111 22.3 17632 chr14 51370807 51370807 C T rs149870138 ABHD12B Nonsynonymous SNV R243C 0.002 0.008 0.003 3 2 3 0.008 1 0 0 0 1 14.24 17633 chr4 23815924 23815924 T C rs2970847 PPARGC1A Synonymous SNV T267T 0.833 0.849 0.867 317 978 326 0.813 255 406 142 110 130 0.006 17634 chr16 4815602 4815602 T C rs12919587 ZNF500 Synonymous SNV E126E 0.514 0.549 0.524 223 603 211 0.572 154 153 58 34 60 1.834 17635 chr4 23886323 23886323 G T rs2946385 PPARGC1A Synonymous SNV R96R 0.461 0.474 0.541 172 541 182 0.441 159 131 42 46 39 1.239 17636 chr16 4815608 4815608 A G rs4786549 ZNF500 Synonymous SNV L124L 0.993 0.992 0.986 388 1166 381 0.995 290 579 189 144 193 2.363 17637 chr4 24801315 24801315 G A rs2536512 SOD3 Nonsynonymous SNV A58T 0.594 0.635 0.612 229 697 244 0.587 180 201 75 63 63 0.054 17638 chr16 48175235 48175235 G T rs16945874 ABCC12 Nonsynonymous SNV A102E 0.124 0.112 0.143 41 145 43 0.105 42 12 3 3 3 0.004 17639 chr16 48201432 48201432 T C rs16945916 ABCC11 Nonsynonymous SNV H1344R 0.216 0.195 0.221 77 253 75 0.197 65 25 4 7 8 0.016 17640 chr4 24801354 24801354 C T rs8192291 SOD3 Synonymous SNV L71L 0.216 0.203 0.187 91 253 78 0.233 55 22 6 8 8 8.028 17641 chr4 25005193 25005193 G A rs2232028 LGI2 Synonymous SNV Y506Y 0.462 0.526 0.452 192 542 202 0.492 133 124 51 35 44 3.203 17642 chr16 48227862 48227862 G A rs11866251 ABCC11 Synonymous SNV F812F 0.216 0.198 0.224 77 254 76 0.197 66 25 4 7 8 8.903 17643 chr4 25005454 25005454 G A rs2232025 LGI2 Synonymous SNV D419D 0.027 0.023 0.014 10 32 9 0.026 4 1 1 0 0 4.487 17644 chr16 4833970 4833970 C T rs759991 SEPTIN12 Synonymous SNV V158V 0.297 0.299 0.313 104 349 115 0.267 92 47 19 16 17 risk factor 11.93 17645 chr4 25032135 25032135 C T rs74901868 LGI2 Nonsynonymous SNV G61S 0.189 0.201 0.184 84 222 77 0.215 54 15 4 8 9 22.5 17646 chr16 4837545 4837545 A G rs9673735 SEPTIN12 Synonymous SNV A34A 0.281 0.286 0.313 95 330 110 0.244 92 51 19 16 12 0.21 17647 chr16 4849705 4849705 C T rs11553876 ROGDI Synonymous SNV T138T 0.149 0.146 0.187 58 175 56 0.149 55 7 4 8 5 Benign 14.08 17648 chr4 25253995 25253995 C T rs313567 PI4K2B Synonymous SNV A107A 0.837 0.854 0.871 314 983 328 0.805 256 413 139 112 124 11.11 17649 chr16 4855279 4855279 A G rs8064024 GLYR1 Synonymous SNV S453S 0.478 0.469 0.551 170 561 180 0.436 162 136 48 43 41 6.921 17650 chr14 58832270 58832270 A G rs376464398 ARID4A Synonymous SNV L1082L 0.01 0.003 0 2 12 1 0.005 0 0 0 0 0 1.044 17651 chr4 25363901 25363901 T A rs315675 ZCCHC4 Nonsynonymous SNV L396H 0.879 0.891 0.833 336 1032 342 0.862 245 457 152 100 144 21.8 17652 chr16 4861709 4861709 G C rs2085329 GLYR1 Nonsynonymous SNV H372Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.58 17653 chr14 72985090 72985090 C A rs759068483 RGS6 Nonsynonymous SNV Q305K 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 16.8 17654 chr14 77944624 77944624 T C rs149849326 ISM2 Nonsynonymous SNV K387E 0.043 0.042 0.054 11 51 16 0.028 16 2 1 0 0 0.653 17655 chr4 25419283 25419283 T C rs9174 ANAPC4 Synonymous SNV F708F 0.539 0.568 0.548 206 633 218 0.528 161 177 56 42 50 2.556 17656 chr16 4930100 4930100 C T rs1876359 UBN1 Synonymous SNV H1094H 0.355 0.352 0.395 121 417 135 0.31 116 77 31 23 22 14.49 17657 chr14 74824365 74824365 A G rs17099563 VRTN Synonymous SNV K293K 0.051 0.034 0.034 17 60 13 0.044 10 2 0 0 1 2.444 17658 chr14 73014061 73014061 T C rs61299139 RGS6 Synonymous SNV T590T 0.04 0.034 0.031 16 47 13 0.041 9 2 0 1 0 3.207 17659 chr16 4933939 4933939 G C rs2037912 PPL Nonsynonymous SNV Q1573E 0.585 0.594 0.503 234 687 228 0.6 148 200 72 40 73 23.2 17660 chr4 25678199 25678199 A G rs6448389 SLC34A2 Nonsynonymous SNV D633G 0.813 0.826 0.793 321 955 317 0.823 233 391 131 91 137 Benign 7.988 17661 chr14 74825014 74825014 C G rs139474205 VRTN Nonsynonymous SNV R510G 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 27.7 17662 chr4 952009 952009 C T rs140597786 TMEM175 Nonsynonymous SNV R332W 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 24.7 17663 chr14 58924626 58924626 C A rs750293975 KIAA0586 Nonsynonymous SNV N364K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.8 17664 chr14 71275774 71275776 CCT - rs397840789 MAP3K9 E38del 0.221 0.219 0.003 79 260 84 0.203 1 0 0 0 0 17665 chr16 4934549 4934549 G A rs1049208 PPL Synonymous SNV S1369S 0.574 0.581 0.5 234 674 223 0.6 147 195 69 40 73 0.721 17666 chr4 26585881 26585881 C T rs4692549 TBC1D19 Synonymous SNV S22S 0.388 0.451 0.357 135 456 173 0.346 105 92 41 21 19 14.87 17667 chr16 4934564 4934564 C G rs1049207 PPL Synonymous SNV L1364L 0.577 0.583 0.5 234 677 224 0.6 147 196 70 40 73 0.158 17668 chr14 74976452 74976452 C T rs61505039 LTBP2 Nonsynonymous SNV G1088S 0.01 0.013 0.007 5 12 5 0.013 2 0 0 0 0 Benign 29.3 17669 chr16 4935146 4935146 C T rs1049206 PPL Synonymous SNV V1170V 0.321 0.302 0.337 118 377 116 0.303 99 69 20 18 17 9.036 17670 chr4 26673787 26673787 A G rs7691219 TBC1D19 Synonymous SNV E162E 0.75 0.802 0.844 303 881 308 0.777 248 440 154 123 151 8.014 17671 chr16 4938160 4938160 T G rs2734742 PPL Nonsynonymous SNV R819S 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 14.01 17672 chr4 26755492 26755492 A G rs898337408 TBC1D19 Nonsynonymous SNV T431A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.12 17673 chr14 74988687 74988687 G A rs7145480 LTBP2 Synonymous SNV R905R 0.055 0.044 0.024 11 64 17 0.028 7 1 0 0 0 Benign/Likely benign 11.48 17674 chr16 4940809 4940809 A G rs2471844 PPL Synonymous SNV C694C 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 4.84 17675 chr16 4942099 4942099 C T rs1049205 PPL Nonsynonymous SNV R589Q 0.578 0.578 0.503 238 679 222 0.61 148 200 69 41 74 23.1 17676 chr4 27004011 27004011 G A rs10028164 STIM2 Synonymous SNV Q266Q 0.927 0.927 0.976 376 1088 356 0.964 287 540 177 142 186 8.544 17677 chr14 78197365 78197365 C T rs114763 SNW1 Synonymous SNV E333E 0.541 0.565 0.565 203 635 217 0.521 166 169 63 47 51 15.94 17678 chr4 36069805 36069805 G A rs7657166 ARAP2 Synonymous SNV A1613A 0.274 0.313 0.337 104 322 120 0.267 99 47 20 11 19 7.065 17679 chr14 78217698 78217698 A G rs61745425 SNW1 Synonymous SNV Y98Y 0.047 0.036 0.02 17 55 14 0.044 6 1 1 0 0 3.757 17680 chr16 49430534 49430534 G A rs72776789 C16orf78 Nonsynonymous SNV E199K 0.014 0.018 0.014 11 16 7 0.028 4 0 0 0 0 26.7 17681 chr4 36081878 36081878 C T rs4833069 ARAP2 Nonsynonymous SNV R1523Q 0.992 0.99 0.99 384 1165 380 0.985 291 578 188 144 189 8.35 17682 chr14 78374327 78374327 G A rs6574411 ADCK1 Nonsynonymous SNV S308N 0.123 0.135 0.109 61 144 52 0.156 32 8 2 2 4 5.531 17683 chr14 75248652 75248652 C G rs45617140 YLPM1 Nonsynonymous SNV P636A 0.131 0.122 0.146 64 154 47 0.164 43 13 5 3 7 21.1 17684 chr14 53217443 53217443 A G rs199554609 STYX Nonsynonymous SNV I63V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.33 17685 chr16 4944518 4944518 C G rs1876363 PPL Synonymous SNV V448V 0.997 0.997 0.993 386 1170 383 0.99 292 583 191 145 191 6.435 17686 chr14 78709814 78709814 T C rs1882821 NRXN3 Synonymous SNV D126D 0.26 0.203 0.276 88 305 78 0.226 81 34 3 9 9 Benign 0.002 17687 chr4 36126568 36126568 C A rs144280242 ARAP2 Nonsynonymous SNV R1221I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 17688 chr16 50106594 50106594 T C rs2287197 HEATR3 Synonymous SNV F197F 0.693 0.711 0.65 273 814 273 0.7 191 286 97 70 97 4.431 17689 chr14 73729314 73729314 C T rs1053466217 PAPLN Synonymous SNV G834G 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 13.94 17690 chr14 75265725 75265725 A G rs372595945 YLPM1 Nonsynonymous SNV Y1242C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.8 17691 chr14 53331183 53331183 G A rs79804050 FERMT2 Nonsynonymous SNV T513M 0.004 0.005 0.003 6 5 2 0.015 1 0 0 0 0 22.9 17692 chr16 50326661 50326661 A G rs8051594 ADCY7 Synonymous SNV A204A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.539 17693 chr16 50342658 50342658 C T rs17289102 ADCY7 Synonymous SNV A672A 0.253 0.221 0.272 103 297 85 0.264 80 40 9 8 7 16.29 17694 chr14 75276176 75276176 G C rs139645102 YLPM1 Nonsynonymous SNV V1539L 0.017 0.016 0.01 2 20 6 0.005 3 0 1 0 0 8.873 17695 chr4 36285929 36285929 A C rs6824507 DTHD1 Synonymous SNV V201V 0.226 0.258 0.245 83 265 99 0.213 72 26 12 8 9 0.003 17696 chr14 81422178 81422178 C A rs2234919 TSHR Nonsynonymous SNV P52T 0.117 0.112 0.068 43 137 43 0.11 20 11 1 0 3 Benign 11.63 17697 chr16 5050897 5050897 G C rs2286966 SEC14L5 Synonymous SNV G367G 0.499 0.521 0.514 188 586 200 0.482 151 135 48 42 46 1.275 17698 chr4 994414 994414 G A rs3755955 IDUA Nonsynonymous SNV R105Q 0.172 0.159 0.16 75 202 61 0.192 47 18 8 3 9 Benign 0.09 17699 chr4 36292018 36292018 T A rs1995319 DTHD1 Nonsynonymous SNV V14D 0.957 0.961 0.946 376 1124 369 0.964 278 538 178 131 181 0.001 17700 chr16 50733859 50733859 C G rs2067085 NOD2 Synonymous SNV S151S 0.415 0.398 0.442 164 487 153 0.421 130 108 29 30 35 Benign 9.201 17701 chr16 50745583 50745583 T G rs1861759 NOD2 Synonymous SNV R560R 0.427 0.406 0.425 169 501 156 0.433 125 110 29 27 32 Benign 0.026 17702 chr14 73989145 73989145 G A rs78901745 HEATR4 Nonsynonymous SNV R238C 0.041 0.039 0.102 27 48 15 0.069 30 1 0 2 1 27.6 17703 chr4 995305 995305 T C rs6815946 IDUA Synonymous SNV N49N 0.179 0.164 0.177 76 210 63 0.195 52 19 8 3 9 Benign 0.593 17704 chr4 36317970 36317970 T C rs9995922 DTHD1 Synonymous SNV S444S 0.33 0.354 0.337 118 387 136 0.303 99 53 25 12 15 0.63 17705 chr16 5075542 5075542 G A rs887854 NAGPA Synonymous SNV N495N 0.721 0.693 0.711 280 847 266 0.718 209 301 95 74 101 Benign 1.511 17706 chr16 50757276 50757276 G A rs5743291 NOD2 Nonsynonymous SNV V928I 0.12 0.099 0.122 42 141 38 0.108 36 4 1 2 0 Benign/Likely benign 1.382 17707 chr4 995919 995919 G C rs6830825 IDUA Synonymous SNV A182A 0.179 0.164 0.177 76 210 63 0.195 52 19 8 3 9 Benign 1.504 17708 chr4 37435524 37435524 C T rs17604216 NWD2 Synonymous SNV N196N 0.026 0.021 0.027 9 31 8 0.023 8 0 0 0 1 14.25 17709 chr14 73989816 73989816 C T rs28552441 HEATR4 Nonsynonymous SNV C14Y 0.041 0.039 0.102 27 48 15 0.069 30 1 0 2 1 0.001 17710 chr4 37445315 37445315 C A rs4634233 NWD2 Nonsynonymous SNV L569M 0.196 0.203 0.221 64 230 78 0.164 65 23 4 6 4 23 17711 chr16 5083483 5083483 T C rs2972272 NAGPA Synonymous SNV G111G 0.728 0.721 0.684 287 855 277 0.736 201 305 100 76 107 Benign 0.417 17712 chr4 996165 996165 G A rs6831280 IDUA Nonsynonymous SNV A229T 0.175 0.161 0.177 74 206 62 0.19 52 17 8 3 9 Benign 0.05 17713 chr16 50841484 50841484 G A rs1054987 LINC02168 0 0 0.432 0 0 0 0 127 0 0 29 0 3.823 17714 chr14 73711394 73711394 A G rs2280792 PAPLN Nonsynonymous SNV S33G 0.106 0.122 0.126 32 124 47 0.082 37 8 5 4 1 17.39 17715 chr16 5106184 5106184 C T rs741164 C16orf89 Synonymous SNV G211G 0.588 0.555 0.595 206 690 213 0.528 175 203 58 54 47 8.427 17716 chr4 37903756 37903756 T C rs2279027 TBC1D1 Nonsynonymous SNV S14P 0.53 0.557 0.571 245 622 214 0.628 168 153 58 50 77 0.059 17717 chr14 81676282 81676282 T C rs12895990 GTF2A1 0.122 0.117 0.173 39 143 45 0.1 51 8 4 6 4 1.817 17718 chr16 52473263 52473263 A G rs9925256 TOX3 Synonymous SNV P535P 0.501 0.484 0.459 188 588 186 0.482 135 140 42 29 52 0.001 17719 chr14 73711513 73711513 G A rs2280793 LOC101928123 0.075 0.078 0.122 21 88 30 0.054 36 8 5 4 1 5.636 17720 chr14 52741597 52741597 G A rs41312506 PTGDR Nonsynonymous SNV R332Q 0.012 0.013 0.01 5 14 5 0.013 3 0 0 0 0 27.9 17721 chr4 996248 996248 G C rs6836258 IDUA Synonymous SNV T256T 0.179 0.164 0.177 76 210 63 0.195 52 19 8 3 9 Benign 0.54 17722 chr16 52497872 52497872 C T rs16951186 TOX3 Nonsynonymous SNV V128M 0.025 0.023 0.034 12 29 9 0.031 10 0 0 0 0 16.02 17723 chr14 73712303 73712303 T G rs2242609 LOC101928123 0.141 0.146 0.119 40 165 56 0.103 35 7 5 4 1 6.381 17724 chr4 37962133 37962133 G A rs2290740 PTTG2 Synonymous SNV L26L 0.155 0.141 0.156 72 182 54 0.185 46 22 2 5 4 2.031 17725 chr14 73717720 73717720 G A rs741842 PAPLN Nonsynonymous SNV A191T 0.085 0.104 0.048 36 100 40 0.092 14 3 2 0 1 23.6 17726 chr4 996560 996560 C G rs115790973 IDUA Synonymous SNV T278T 0.112 0.089 0.034 57 132 34 0.146 10 19 8 1 9 Benign 9.763 17727 chr14 74188164 74188164 T C rs60635070 ELMSAN1 Nonsynonymous SNV S925G 0.032 0.036 0.051 12 37 14 0.031 15 1 0 0 0 13.57 17728 chr4 37962186 37962186 G C rs6811863 PTTG2 Nonsynonymous SNV R44P 0.52 0.508 0.568 200 611 195 0.513 167 157 47 56 45 0.662 17729 chr16 53283966 53283966 G A rs8052283 CHD9 Synonymous SNV Q1283Q 0.277 0.305 0.303 116 325 117 0.297 89 44 18 11 21 3.891 17730 chr4 996681 996681 A G IDUA Nonsynonymous SNV N319D 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 8.266 17731 chr16 53326860 53326860 G A rs2287078 CHD9 Synonymous SNV Q1802Q 0.289 0.307 0.299 121 339 118 0.31 88 44 17 11 21 6.347 17732 chr14 74196581 74196581 G A rs11847050 ELMSAN1 Synonymous SNV I619I 0.075 0.076 0.105 22 88 29 0.056 31 1 1 3 2 12.92 17733 chr16 53341748 53341748 T G rs6499548 CHD9 Nonsynonymous SNV D2312E 0.781 0.818 0.769 300 917 314 0.769 226 362 127 91 112 2.694 17734 chr4 996690 996690 G A rs73066479 IDUA Nonsynonymous SNV V322I 0.177 0.159 0.099 75 208 61 0.192 29 19 8 2 9 Benign 2.646 17735 chr4 38016395 38016395 T G rs10501 TBC1D1 Nonsynonymous SNV V228G 0.356 0.385 0.476 159 418 148 0.408 140 104 42 36 43 0.078 17736 chr16 53358439 53358439 A G rs3743771 CHD9 Nonsynonymous SNV T2776A 0.253 0.268 0.265 103 297 103 0.264 78 34 12 9 16 4.471 17737 chr4 996888 996888 C T rs115929690 IDUA Synonymous SNV R357R 0.179 0.161 0.126 76 210 62 0.195 37 19 8 3 9 Benign 10.33 17738 chr4 38029452 38029452 G C rs112435875 TBC1D1 Synonymous SNV L418L 0.025 0.031 0.02 10 29 12 0.026 6 0 0 0 0 10.32 17739 chr4 1019055 1019056 CA - rs145808953 FGFRL1 H485Lfs*66 0.012 0 0.014 8 14 0 0.021 4 0 0 0 0 17740 chr16 53968022 53968022 G A FTO 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 17741 chr4 38774785 38774785 A G rs10776482 TLR10 Synonymous SNV D809D 0.365 0.344 0.378 141 429 132 0.362 111 81 19 15 27 1.87 17742 chr16 54279640 54279640 G T rs72811791 LINC02169 0 0 0.143 0 0 0 0 42 0 0 3 0 0.363 17743 chr14 88407888 88407888 A G rs398607 GALC Nonsynonymous SNV I539T 0.424 0.44 0.446 158 498 169 0.405 131 113 33 28 35 Benign, other 22.9 17744 chr4 38774889 38774889 T C rs4129009 TLR10 Nonsynonymous SNV I775V 0.332 0.307 0.313 121 390 118 0.31 92 64 13 9 22 0.004 17745 chr16 54279687 54279687 G C rs16953255 LINC02169 0 0 0.143 0 0 0 0 42 0 0 3 0 0.005 17746 chr16 54279693 54279693 A G rs72811792 LINC02169 0 0 0.143 0 0 0 0 42 0 0 3 0 1.279 17747 chr16 54318172 54318172 C A rs1126960 IRX3 Nonsynonymous SNV Q479H 0.291 0.313 0.316 92 342 120 0.236 93 49 19 15 15 22.9 17748 chr4 38774898 38774898 G A rs145139818 TLR10 Stop gain R772X 0.019 0.023 0.003 14 22 9 0.036 1 0 0 0 0 35 17749 chr14 55818162 55818162 C T rs74050979 FBXO34 Nonsynonymous SNV P352S 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.006 17750 chr14 88414211 88414211 G A rs398076 GALC Synonymous SNV S427S 0.335 0.365 0.354 116 393 140 0.297 104 65 23 17 19 Benign 7.737 17751 chr16 54318528 54318528 A G rs1450355 IRX3 Nonsynonymous SNV L422P 0.75 0.688 0.779 308 880 264 0.79 229 440 132 114 154 7.091 17752 chr14 88459835 88459835 C A rs185943390 GALC Synonymous SNV G3G 0.013 0.005 0.007 4 15 2 0.01 2 0 0 0 0 Uncertain significance 8.415 17753 chr4 38775040 38775040 A G rs10776483 TLR10 Synonymous SNV H724H 0.389 0.357 0.381 145 457 137 0.372 112 81 19 15 27 2.456 17754 chr14 55818514 55818514 C T rs59719421 FBXO34 Nonsynonymous SNV S469F 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 21.8 17755 chr4 38776107 38776107 T G rs11096955 TLR10 Nonsynonymous SNV I369L 0.557 0.555 0.541 212 654 213 0.544 159 173 51 45 53 6.105 17756 chr16 55519535 55519535 G C rs1132896 MMP2 Synonymous SNV G176G 0.378 0.336 0.333 137 444 129 0.351 98 78 21 17 24 Benign 7.858 17757 chr14 88477882 88477882 A C rs3742704 GPR65 Nonsynonymous SNV I231L 0.078 0.12 0.088 29 91 46 0.074 26 3 1 2 1 8.417 17758 chr16 55523705 55523705 T C rs243849 MMP2 Synonymous SNV D333D 0.825 0.857 0.796 305 969 329 0.782 234 402 139 93 121 Benign 0.516 17759 chr4 38776180 38776180 C A rs11096956 TLR10 Synonymous SNV P344P 0.388 0.357 0.381 142 456 137 0.364 112 80 19 15 26 11.46 17760 chr16 55527113 55527113 G A rs2287074 MMP2 Synonymous SNV T410T 0.467 0.438 0.405 159 548 168 0.408 119 131 34 24 34 Benign 16.59 17761 chr4 38776491 38776491 T G rs11096957 TLR10 Nonsynonymous SNV N241H 0.556 0.555 0.541 212 653 213 0.544 159 173 51 45 53 19.18 17762 chr14 88651962 88651962 C T rs17762463 KCNK10 Nonsynonymous SNV A512T 0.267 0.25 0.255 104 314 96 0.267 75 42 12 11 17 10.39 17763 chr16 55536727 55536727 C T rs14070 MMP2 Synonymous SNV F552F 0.511 0.445 0.439 190 600 171 0.487 129 149 40 28 50 Benign 18.77 17764 chr16 55562466 55562466 G A rs837550 LPCAT2 Nonsynonymous SNV M163I 0.675 0.674 0.656 251 793 259 0.644 193 271 86 63 83 0.003 17765 chr4 38799710 38799710 T C rs4833095 TLR1 Nonsynonymous SNV N248S 0.484 0.471 0.524 205 568 181 0.526 154 142 37 46 50 risk factor 0.002 17766 chr14 76045220 76045220 T C rs11845734 LOC102724153 0.227 0.227 0.259 90 267 87 0.231 76 29 8 10 14 Benign 5.437 17767 chr16 55608587 55608587 G A rs13334083 LPCAT2 Synonymous SNV L420L 0.06 0.081 0.075 35 70 31 0.09 22 3 0 1 2 10.54 17768 chr14 76045362 76045362 T C rs2287015 FLVCR2 Nonsynonymous SNV V16A 0.235 0.237 0.269 91 276 91 0.233 79 29 8 11 14 Benign 4.605 17769 chr4 38830350 38830350 A G rs5743810 TLR6 Nonsynonymous SNV S249P 0.762 0.742 0.759 315 895 285 0.808 223 347 101 85 124 0.004 17770 chr14 74440645 74440645 G A ENTPD5 Nonsynonymous SNV P274L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27.7 17771 chr14 88935925 88935925 A G rs2297129 PTPN21 Synonymous SNV T1051T 0.29 0.273 0.313 112 341 105 0.287 92 41 12 10 16 0.043 17772 chr16 55880480 55880480 A C rs11860456 CES5A Nonsynonymous SNV D487E 0.274 0.26 0.272 115 322 100 0.295 80 44 16 9 18 0.046 17773 chr14 88938652 88938652 A G rs2274736 PTPN21 Nonsynonymous SNV V936A 0.289 0.273 0.313 112 339 105 0.287 92 41 12 10 16 8.697 17774 chr14 76045858 76045858 G A rs2287016 FLVCR2 Synonymous SNV V181V 0.234 0.237 0.269 91 275 91 0.233 79 29 8 11 14 Benign 7.076 17775 chr4 1305802 1305802 C T rs34402978 MAEA Synonymous SNV A35A 0.051 0.049 0.065 18 60 19 0.046 19 2 1 1 0 17.92 17776 chr4 38928641 38928641 A G rs732056 FAM114A1 Synonymous SNV A413A 0.636 0.596 0 275 747 229 0.705 0 238 70 0 100 0.589 17777 chr16 55880534 55880534 G C rs11860488 CES5A Synonymous SNV L469L 0.271 0.26 0.272 111 318 100 0.285 80 44 16 9 17 1.205 17778 chr14 64988814 64988814 G A rs201229691 ZBTB1 Nonsynonymous SNV V198M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.82 17779 chr4 38937372 38937372 T C rs2271031 FAM114A1 Synonymous SNV S292S 0.693 0.667 0.646 281 813 256 0.721 190 276 86 63 103 3.481 17780 chr14 76045963 76045963 C G rs2287017 FLVCR2 Synonymous SNV S216S 0.234 0.237 0.269 91 275 91 0.233 79 29 8 11 14 Benign 9.81 17781 chr16 55883618 55883618 T C rs2160276 CES5A Synonymous SNV P447P 0.671 0.68 0.677 258 788 261 0.662 199 265 91 72 77 2.842 17782 chr4 38972693 38972693 T C rs148909241 TMEM156 Synonymous SNV L295L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.551 17783 chr14 88945591 88945591 A G rs879932 PTPN21 Synonymous SNV P728P 0.29 0.279 0.306 112 341 107 0.287 90 42 13 10 16 1.158 17784 chr16 55905636 55905636 A G rs3859108 CES5A Synonymous SNV H106H 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.056 17785 chr14 65008138 65008138 T A rs45456191 HSPA2 Nonsynonymous SNV C191S 0.025 0.029 0.003 4 29 11 0.01 1 0 0 0 0 0.004 17786 chr16 56228066 56228066 A G rs1190761 DKFZP434H168 0 0 0.912 0 0 0 0 268 0 0 123 0 11.75 17787 chr4 38995374 38995374 T C rs10212770 TMEM156 Synonymous SNV L201L 0.791 0.831 0.827 301 929 319 0.772 243 369 136 104 120 0.715 17788 chr14 88946622 88946622 G A rs2401751 PTPN21 Nonsynonymous SNV L385F 0.29 0.279 0.313 112 341 107 0.287 92 43 13 10 16 0.254 17789 chr16 56368689 56368689 C T rs1065375 GNAO1 Synonymous SNV T171T 0.465 0.448 0.452 177 546 172 0.454 133 125 36 26 40 Benign 19.36 17790 chr4 1369885 1369885 G A rs11724369 UVSSA Synonymous SNV A499A 0.326 0.339 0.31 121 383 130 0.31 91 64 25 14 19 8.001 17791 chr4 39000305 39000305 A G rs11542133 TMEM156 Nonsynonymous SNV S105P 0.241 0.281 0.241 92 283 108 0.236 71 21 21 9 13 20.4 17792 chr16 56545175 56545175 T C rs11373 BBS2 Nonsynonymous SNV I123V 0.216 0.214 0.17 73 254 82 0.187 50 26 10 1 5 Benign 0.227 17793 chr14 76543004 76543004 G A rs17783366 IFT43 Nonsynonymous SNV D94N 0.296 0.318 0.289 118 347 122 0.303 85 38 23 13 18 Benign 14.92 17794 chr14 89109297 89109297 C A EML5 Nonsynonymous SNV D1393Y 0.003 0 0 0 4 0 0 0 0 0 0 0 33 17795 chr4 39064162 39064162 A C rs2711941 KLHL5 Nonsynonymous SNV I10L 0.783 0.779 0.762 298 919 299 0.764 224 365 117 82 115 10.11 17796 chr16 56548501 56548501 C T rs4784677 BBS2 Nonsynonymous SNV S70N 0.989 0.992 0.98 385 1161 381 0.987 288 574 189 141 190 Benign 12.57 17797 chr14 90651033 90651033 G A rs3814848 KCNK13 Nonsynonymous SNV G305R 0.046 0.049 0.065 20 54 19 0.051 19 0 2 0 0 0.002 17798 chr16 56601720 56601720 A G rs666636 MT4 Nonsynonymous SNV Y30C 0.995 0.992 0.963 384 1168 381 0.985 283 582 189 136 189 11.84 17799 chr4 39116911 39116911 T C rs3733276 KLHL5 Synonymous SNV T663T 0.596 0.573 0.595 252 700 220 0.646 175 206 65 52 80 7.212 17800 chr16 56601722 56601722 T C rs666647 MT4 Nonsynonymous SNV W31R 0.995 0.992 0.963 384 1168 381 0.985 283 582 189 136 189 10.4 17801 chr14 77269788 77269788 A C rs2075773 ANGEL1 Nonsynonymous SNV F515C 0.075 0.07 0.088 44 88 27 0.113 26 5 2 1 3 29.7 17802 chr4 39302029 39302029 T C rs2066786 RFC1 Synonymous SNV P821P 0.561 0.563 0.565 246 659 216 0.631 166 194 61 51 76 7.125 17803 chr14 90756760 90756760 A T rs3742671 NRDE2 Synonymous SNV T678T 0.175 0.172 0.18 52 205 66 0.133 53 12 5 4 1 0.002 17804 chr4 39448529 39448529 G A rs17618244 KLB Nonsynonymous SNV R728Q 0.215 0.198 0.214 68 252 76 0.174 63 28 7 5 4 13.08 17805 chr16 56673227 56673227 C A rs11640851 MT1A Nonsynonymous SNV T27N 0.644 0.648 0.622 267 756 249 0.685 183 235 83 57 90 18.37 17806 chr14 77275630 77275630 C A rs34270005 ANGEL1 Nonsynonymous SNV G141W 0.078 0.089 0.061 25 91 34 0.064 18 4 2 0 1 20.8 17807 chr14 66975271 66975271 C G rs150226537 GPHN Nonsynonymous SNV T9S 0.015 0.016 0.007 3 18 6 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.96 17808 chr14 75360066 75360066 C T rs142872233 DLST Nonsynonymous SNV P204L 0.049 0.042 0.041 15 57 16 0.038 12 2 1 0 0 23.1 17809 chr16 56855496 56855496 C G rs2118017 NUP93 Synonymous SNV L92L 0.818 0.773 0.854 302 960 297 0.774 251 394 114 107 119 16.62 17810 chr4 39448542 39448542 C G rs7685429 KLB Synonymous SNV P732P 0.81 0.766 0.769 318 951 294 0.815 226 390 113 86 127 7.978 17811 chr16 56873495 56873495 C T rs1138295 NUP93 Synonymous SNV A610A 0.135 0.133 0.163 45 158 51 0.115 48 10 1 2 2 17.15 17812 chr4 39458051 39458051 A G rs2125313 RPL9 Synonymous SNV Y122Y 0.698 0.688 0.697 286 820 264 0.733 205 303 93 73 105 0.003 17813 chr14 67671701 67671701 C T rs11158655 FAM71D Synonymous SNV V269V 0.125 0.117 0.126 40 147 45 0.103 37 10 0 1 5 12.37 17814 chr14 75367807 75367807 C T rs20578 DLST Synonymous SNV G366G 0.305 0.292 0.32 108 358 112 0.277 94 60 20 17 15 18.11 17815 chr16 56901065 56901065 A G rs2304479 SLC12A3 Synonymous SNV A122A 0.049 0.036 0.024 28 58 14 0.072 7 2 0 0 1 Benign 1.634 17816 chr16 56904587 56904587 C G rs1529927 SLC12A3 Nonsynonymous SNV A264G 0.983 0.984 0.98 384 1154 378 0.985 288 569 186 142 189 Benign 8.224 17817 chr4 39512347 39512347 T C rs11544855 UGDH Synonymous SNV P36P 0.086 0.107 0.112 43 101 41 0.11 33 6 2 1 0 7.329 17818 chr4 1720346 1720346 A G rs11552262 TMEM129 Synonymous SNV Y71Y 0.207 0.237 0.153 92 243 91 0.236 45 25 13 5 11 0.002 17819 chr14 75248669 75248669 G T rs2287401 YLPM1 Synonymous SNV G641G 0.107 0.099 0.099 34 126 38 0.087 29 6 1 2 1 1.859 17820 chr4 39921942 39921942 A G rs28449663 PDS5A Synonymous SNV A244A 0.402 0.445 0.388 175 472 171 0.449 114 99 37 30 42 8.819 17821 chr4 1729660 1729660 C T rs1063742 TACC3 Synonymous SNV S177S 0.208 0.24 0.197 92 244 92 0.236 58 25 13 5 11 9.913 17822 chr16 56919235 56919235 G A rs5802 SLC12A3 Synonymous SNV S628S 0.124 0.133 0.129 60 145 51 0.154 38 9 2 3 3 Benign 3.856 17823 chr14 75276094 75276094 G A rs200709209 YLPM1 Synonymous SNV S1511S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 10.93 17824 chr4 40121562 40121562 G A rs794001 N4BP2 Nonsynonymous SNV D611N 0.732 0.75 0.378 302 859 288 0.774 111 321 109 54 120 8.244 17825 chr4 1729953 1729953 G A rs17132047 TACC3 Nonsynonymous SNV C275Y 0.208 0.24 0.197 92 244 92 0.236 58 25 13 5 11 0.098 17826 chr14 77493762 77493764 TGC - rs556445214 IRF2BPL Q127del 0.009 0.005 0 0 11 2 0 0 0 0 0 0 17827 chr16 56933519 56933519 G A rs11643718 SLC12A3 Nonsynonymous SNV R913Q 0.138 0.133 0.156 62 162 51 0.159 46 12 3 4 4 Benign 15.56 17828 chr14 91357007 91357007 C T rs55911249 RPS6KA5 Nonsynonymous SNV D335N 0.007 0.005 0.007 8 8 2 0.021 2 0 0 0 0 28.8 17829 chr4 40337908 40337908 T C rs10022491 CHRNA9 Synonymous SNV S43S 0.53 0.581 0.537 232 622 223 0.595 158 163 65 43 67 6.686 17830 chr14 75515668 75515668 T G rs28756981 MLH3 Nonsynonymous SNV K231Q 0.014 0.018 0.01 8 17 7 0.021 3 0 0 0 0 Benign/Likely benign 12.4 17831 chr4 1729988 1729988 G A rs1063743 TACC3 Nonsynonymous SNV G287S 0.208 0.24 0.197 91 244 92 0.233 58 25 13 5 11 0.355 17832 chr16 57016092 57016092 G A rs5882 CETP Nonsynonymous SNV V362I 0.678 0.664 0.639 232 796 255 0.595 188 269 81 62 64 Benign 0.005 17833 chr14 57938165 57938165 C T rs181050215 CCDC198 Nonsynonymous SNV E266K 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 32 17834 chr14 91636395 91636395 C T rs4900071 DGLUCY Synonymous SNV G102G 0.298 0.286 0.262 97 350 110 0.249 77 57 17 14 11 12.05 17835 chr4 40356422 40356422 A G rs10009228 CHRNA9 Nonsynonymous SNV N442S 0.796 0.81 0.833 307 935 311 0.787 245 376 126 100 119 0.63 17836 chr16 570557 570557 T C rs11537754 RAB11FIP3 Synonymous SNV S395S 0.529 0.518 0.568 200 621 199 0.513 167 166 58 46 48 0.005 17837 chr4 1730299 1730299 A G rs798759 TACC3 Synonymous SNV A390A 0.42 0.401 0.401 163 493 154 0.418 118 103 36 25 33 0.967 17838 chr14 64496763 64496763 T C rs11850509 SYNE2 Synonymous SNV L2289L 0.036 0.049 0.034 7 42 19 0.018 10 1 2 1 0 Benign 5.619 17839 chr4 40428010 40428010 T C rs278981 RBM47 Nonsynonymous SNV M496V 0.817 0.805 0.803 314 959 309 0.805 236 396 124 95 125 0.022 17840 chr16 57059427 57059427 C T rs74439742 NLRC5 Nonsynonymous SNV P191L 0.221 0.19 0.156 74 259 73 0.19 46 29 7 4 4 7.939 17841 chr14 77706888 77706888 G A rs199846522 TMEM63C Nonsynonymous SNV R334H 0.009 0.013 0.01 0 11 5 0 3 0 0 0 0 25 17842 chr4 1732978 1732978 G A rs17680881 TACC3 Nonsynonymous SNV G514E 0.208 0.24 0.197 91 244 92 0.233 58 25 13 5 11 11.18 17843 chr4 40438576 40438576 A G rs2307046 RBM47 Synonymous SNV G404G 0.891 0.891 0.898 338 1046 342 0.867 264 464 152 119 145 17.67 17844 chr16 57060213 57060213 C T rs9938543 NLRC5 Nonsynonymous SNV P453L 0.097 0.112 0.112 39 114 43 0.1 33 3 1 1 1 2.251 17845 chr4 40440215 40440215 T C rs2291580 RBM47 Synonymous SNV E232E 0.82 0.815 0.844 303 963 313 0.777 248 394 130 106 114 0.429 17846 chr16 57060340 57060340 T C rs34531240 NLRC5 Synonymous SNV T495T 0.106 0.117 0.126 38 125 45 0.097 37 5 1 1 1 0.185 17847 chr4 40440854 40440854 G C rs1052153 RBM47 Synonymous SNV S19S 0.897 0.906 0.912 344 1053 348 0.882 268 470 157 124 151 0.135 17848 chr16 57060353 57060353 T C rs28438857 NLRC5 Nonsynonymous SNV C500R 0.106 0.117 0.126 38 125 45 0.097 37 5 1 1 1 0.001 17849 chr4 1986542 1986542 C T rs2234570 NELFA Synonymous SNV T343T 0.177 0.185 0.167 61 208 71 0.156 49 19 8 3 5 14.15 17850 chr4 40778146 40778146 C T rs2465570 NSUN7 Synonymous SNV G302G 0.83 0.841 0.793 333 974 323 0.854 233 406 138 96 140 12 17851 chr4 40778162 40778162 T G rs2437323 NSUN7 Nonsynonymous SNV S308A 0.83 0.841 0.793 333 974 323 0.854 233 406 138 96 140 9.07 17852 chr16 57068107 57068107 C T rs3995817 NLRC5 Synonymous SNV H857H 0.112 0.117 0.122 37 132 45 0.095 36 5 1 1 1 10.77 17853 chr4 2061334 2061334 C T rs183901937 NAT8L Synonymous SNV L32L 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 9.719 17854 chr14 68274315 68274315 G T rs199969454 ZFYVE26 Nonsynonymous SNV A229E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 20.9 17855 chr14 58605734 58605734 T C rs61741497 ARMH4 Nonsynonymous SNV T115A 0.008 0.01 0.003 5 9 4 0.013 1 0 0 0 0 3.747 17856 chr16 57071113 57071113 T C rs1684579 NLRC5 Synonymous SNV S906S 0.728 0.664 0.68 274 855 255 0.703 200 319 87 75 98 0.676 17857 chr4 40810663 40810663 A G rs4861066 NSUN7 Nonsynonymous SNV T622A 0.344 0.341 0.313 135 404 131 0.346 92 69 22 21 20 0.004 17858 chr16 57071114 57071114 A G rs1672867 NLRC5 Nonsynonymous SNV N907D 0.987 0.99 0.983 384 1159 380 0.985 289 572 188 143 190 0.93 17859 chr14 64520020 64520020 A G rs11847087 SYNE2 Nonsynonymous SNV N3130S 0.071 0.086 0.061 20 83 33 0.051 18 4 1 2 0 Benign 4.396 17860 chr14 68353893 68353893 A G rs34594234 RAD51B Nonsynonymous SNV K243R 0.026 0.005 0.01 4 30 2 0.01 3 0 0 0 0 27.2 17861 chr14 77843353 77843353 G T rs10141317 TMED8 Nonsynonymous SNV P15H 0.128 0.141 0.16 57 150 54 0.146 47 44 16 11 20 26.2 17862 chr4 40810747 40810747 A G rs2261167 NSUN7 Nonsynonymous SNV K650E 0.958 0.961 0.929 377 1125 369 0.967 273 539 177 126 183 8.371 17863 chr16 57075406 57075406 T C rs56171037 NLRC5 Synonymous SNV H983H 0.096 0.096 0.116 34 113 37 0.087 34 4 0 0 1 0.324 17864 chr14 92549586 92549586 G A rs16999141 ATXN3 Synonymous SNV V43V 0.492 0.469 0.452 192 578 180 0.492 133 134 43 28 43 Likely benign 14.63 17865 chr16 57091977 57091977 T C rs7206703 NLRC5 Synonymous SNV G1220G 0.089 0.078 0.071 31 105 30 0.079 21 3 0 0 1 0.462 17866 chr14 77843384 77843384 G T rs3742737 TMED8 Nonsynonymous SNV Q5K 0.117 0.128 0.197 51 137 49 0.131 58 43 16 12 17 7.047 17867 chr4 41015899 41015899 C T rs4861358 APBB2 Nonsynonymous SNV R179Q 0.678 0.719 0.67 268 796 276 0.687 197 267 95 64 90 0.003 17868 chr14 76666256 76666256 A C rs2360981 GPATCH2L Nonsynonymous SNV N441T 0.101 0.154 0 54 118 59 0.138 0 3 3 0 4 0.264 17869 chr16 57101340 57101340 T C rs7190199 NLRC5 Nonsynonymous SNV V1426A 0.076 0.07 0.068 25 89 27 0.064 20 1 0 1 1 1.815 17870 chr4 41259633 41259633 C A rs5030732 UCHL1 Nonsynonymous SNV S18Y 0.109 0.094 0.102 50 128 36 0.128 30 18 5 2 9 Benign 20.8 17871 chr16 57101373 57101373 A G rs7185320 NLRC5 Nonsynonymous SNV Q1437R 0.076 0.07 0.068 25 89 27 0.064 20 1 0 1 1 1.018 17872 chr14 64554517 64554517 A G rs17101637 SYNE2 Synonymous SNV V3871V 0.082 0.096 0.078 21 96 37 0.054 23 5 3 3 0 Benign 10.66 17873 chr4 2460899 2460925 CAGCGGCGCCGTTGTGAACTCATCTCC - CFAP99 R458_Q466del 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17874 chr4 41652442 41652442 G A rs16853408 LIMCH1 Synonymous SNV T400T 0.026 0.036 0.051 18 30 14 0.046 15 0 0 0 0 11.35 17875 chr14 64557734 64557734 A C rs10137972 SYNE2 Nonsynonymous SNV N3982H 0.101 0.104 0.085 27 118 40 0.069 25 9 1 3 0 Benign 24.4 17876 chr16 57392733 57392733 A C rs4359426 CCL22 Nonsynonymous SNV D2A 0.96 0.961 0.925 369 1127 369 0.946 272 542 178 126 175 2.046 17877 chr14 76330181 76330181 G A rs3742764 TTLL5 Synonymous SNV L1166L 0.126 0.081 0.167 50 148 31 0.128 49 13 3 4 3 11.32 17878 chr4 41673604 41673604 T C rs11734372 LIMCH1 Nonsynonymous SNV M593T 0.574 0.56 0.561 221 674 215 0.567 165 190 57 47 67 0.013 17879 chr16 57499902 57499902 T C rs4937 POLR2C Synonymous SNV V58V 0.781 0.763 0.752 317 917 293 0.813 221 360 110 85 127 6.441 17880 chr14 76349049 76349049 C T rs143302131 TTLL5 Synonymous SNV L1182L 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 Benign 13.06 17881 chr14 64564680 64564680 G A rs17101661 SYNE2 Nonsynonymous SNV R4041H 0.029 0.039 0.017 6 34 15 0.015 5 1 1 0 0 Benign/Likely benign 10.33 17882 chr16 57562804 57562804 G A rs12935069 CCDC102A Nonsynonymous SNV R96W 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 21.3 17883 chr4 41691601 41691601 T C rs1061597 LIMCH1 Synonymous SNV A831A 0.234 0.232 0.235 98 275 89 0.251 69 39 9 7 9 10.94 17884 chr14 93118198 93118198 C T rs3814830 RIN3 Synonymous SNV A193A 0.178 0.167 0.146 65 209 64 0.167 43 15 4 4 3 9.592 17885 chr14 93118668 93118668 C T rs3742717 RIN3 Nonsynonymous SNV T350M 0.201 0.195 0.146 71 236 75 0.182 43 20 6 4 4 5.727 17886 chr16 57689385 57689385 C G rs1801257 ADGRG1 Nonsynonymous SNV S286R 0.5 0.513 0.49 184 587 197 0.472 144 146 46 37 47 Benign/Likely benign 0.003 17887 chr4 41984118 41984118 C T rs2660320 DCAF4L1 Synonymous SNV S103S 0.735 0.737 0.731 281 863 283 0.721 215 315 109 81 102 13.42 17888 chr14 64612845 64612845 C T rs11629287 SYNE2 Synonymous SNV I5181I 0.278 0.318 0.286 93 326 122 0.238 84 43 24 17 13 Benign 14.08 17889 chr4 41992677 41992677 C G rs2581434 SLC30A9 Synonymous SNV P3P 0.796 0.784 0.748 310 934 301 0.795 220 376 120 94 128 12 17890 chr16 57689883 57689883 T C rs1376041 ADGRG1 Synonymous SNV T337T 0.726 0.737 0.663 259 852 283 0.664 195 300 103 55 84 Benign 3.028 17891 chr4 42003671 42003671 A G rs1047626 SLC30A9 Nonsynonymous SNV M50V 0.705 0.719 0.694 278 828 276 0.713 204 300 104 73 99 0.001 17892 chr16 57722328 57722328 C T rs12444859 ADGRG3 Synonymous SNV S415S 0.344 0.378 0.282 149 404 145 0.382 83 70 28 10 24 9.192 17893 chr4 3039150 3039150 T C rs1801058 GRK4 Nonsynonymous SNV V292A 0.637 0.651 0.673 253 748 250 0.649 198 235 77 64 81 0.016 17894 chr16 57732888 57732888 G A rs11648684 DRC7 Synonymous SNV P110P 0.102 0.099 0.092 41 120 38 0.105 27 2 2 1 0 12.59 17895 chr14 59789892 59789892 G T rs17096074 DAAM1 Synonymous SNV L241L 0.062 0.052 0.078 24 73 20 0.062 23 2 0 0 1 4.671 17896 chr4 42022464 42022464 C A rs15857 SLC30A9 Synonymous SNV G122G 0.735 0.737 0.718 281 863 283 0.721 211 315 109 81 102 14.93 17897 chr16 57735900 57735900 G C rs7196016 DRC7 Nonsynonymous SNV C186S 0.224 0.224 0.197 93 263 86 0.238 58 25 8 9 10 23.3 17898 chr4 44626641 44626641 A G rs60959366 YIPF7 Synonymous SNV G219G 0.37 0.354 0.422 149 434 136 0.382 124 65 29 31 25 11.15 17899 chr4 3076604 3076609 CAGCAG - rs374076986 HTT Q37_Q38del 0.195 0.156 0.065 75 229 60 0.192 19 54 13 9 17 17900 chr16 57756643 57756643 C T rs3809611 DRC7 Nonsynonymous SNV P368L 0.217 0.24 0.177 108 255 92 0.277 52 27 11 5 16 26.2 17901 chr4 44682465 44682465 T C rs6447368 GUF1 Nonsynonymous SNV L58P 0.643 0.651 0.558 234 755 250 0.6 164 238 89 48 68 10.67 17902 chr14 59797373 59797373 G A rs28927674 DAAM1 Synonymous SNV A509A 0.072 0.06 0.058 26 84 23 0.067 17 3 0 0 1 15.28 17903 chr4 3137674 3137674 G A rs363075 HTT Nonsynonymous SNV G893R 0.068 0.07 0.075 37 80 27 0.095 22 3 0 1 2 24.4 17904 chr16 57762401 57762401 T C rs2923147 DRC7 Nonsynonymous SNV C701R 0.214 0.237 0.177 108 251 91 0.277 52 27 10 5 19 4.354 17905 chr14 78140329 78140329 G A rs6493 ALKBH1 Synonymous SNV S332S 0.231 0.203 0.17 75 271 78 0.192 50 31 6 5 4 10.61 17906 chr4 47322190 47322190 T C rs4482737 GABRB1 Synonymous SNV L170L 0.991 0.984 0.976 382 1163 378 0.979 287 576 186 140 187 5.952 17907 chr4 3148570 3148570 G A rs35892913 HTT Nonsynonymous SNV V1064I 0.069 0.07 0.075 38 81 27 0.097 22 3 0 1 3 3.771 17908 chr14 70839735 70839735 A C rs45565842 SYNJ2BP Synonymous SNV A137A 0.117 0.099 0.133 44 137 38 0.113 39 10 2 2 2 0.269 17909 chr14 77786863 77786863 C A rs2270420 POMT2 Synonymous SNV A54A 0.049 0.047 0.068 27 58 18 0.069 20 0 0 1 2 Benign 18.4 17910 chr14 78140355 78140355 T A rs6494 ALKBH1 Nonsynonymous SNV M324L 0.256 0.232 0.194 83 300 89 0.213 57 38 12 7 6 8.06 17911 chr4 47584046 47584046 G A rs1058793 ATP10D Nonsynonymous SNV V1240I 0.171 0.148 0.133 47 201 57 0.121 39 21 5 3 1 14.92 17912 chr16 57786711 57786711 C T rs2965798 KATNB1 Synonymous SNV D242D 0.713 0.729 0.67 283 837 280 0.726 197 300 104 61 97 16.11 17913 chr16 57795394 57795394 G A rs2967172 KIFC3 Synonymous SNV D499D 0.719 0.721 0.68 281 844 277 0.721 200 308 103 67 97 9.409 17914 chr16 57805176 57805176 A G rs2967165 KIFC3 Synonymous SNV L131L 0.843 0.846 0.85 329 990 325 0.844 250 423 136 104 140 8.237 17915 chr4 47605505 47605505 G A rs61759670 CORIN Synonymous SNV Y803Y 0.061 0.057 0.051 17 72 22 0.044 15 3 1 0 0 1.583 17916 chr14 64988830 64988830 C A rs45512391 ZBTB1 Nonsynonymous SNV T203N 0.062 0.034 0.051 19 73 13 0.049 15 6 0 1 2 12.2 17917 chr16 57847634 57847634 - TG rs56192221 LOC388282 Frameshift insertion Q46Hfs*33 0.904 0.893 0.871 347 1061 343 0.89 256 480 154 110 152 17918 chr4 47839929 47839929 C T rs2289433 CORIN Nonsynonymous SNV C13Y 0.726 0.708 0.684 292 852 272 0.749 201 304 91 67 111 0.001 17919 chr16 57847635 57847635 - AGGTGG LOC388282 0.904 0.896 0.776 347 1061 344 0.89 228 480 155 110 152 17920 chr4 3319271 3319271 C T rs10006362 RGS12 Synonymous SNV D458D 0.282 0.25 0.245 118 331 96 0.303 72 50 15 13 19 5.483 17921 chr16 57847664 57847664 T C rs4262935 LOC388282 Nonsynonymous SNV C56R 0.98 0.992 0.973 382 1151 381 0.979 286 564 189 139 187 0.642 17922 chr14 59993855 59993855 A G rs17834184 CCDC175 Synonymous SNV I600I 0.06 0.055 0.034 24 70 21 0.062 10 6 3 1 3 0.014 17923 chr16 57937788 57937788 T C rs2303785 CNGB1 Nonsynonymous SNV K905R 0.095 0.099 0.088 44 111 38 0.113 26 8 1 1 1 Benign 11.02 17924 chr4 3446132 3446132 C G rs1987546 HGFAC Nonsynonymous SNV F231L 0.676 0.659 0.707 255 794 253 0.654 208 271 84 72 79 0.616 17925 chr14 78184661 78184661 T G rs17825620 SNW1 Nonsynonymous SNV K487N 0.253 0.229 0.19 83 297 88 0.213 56 37 12 7 6 10 17926 chr4 47887536 47887536 T C rs2053404 NFXL1 Synonymous SNV A601A 0.729 0.714 0.687 294 856 274 0.754 202 308 92 67 112 9.155 17927 chr16 57949224 57949224 G T rs10459809 CNGB1 Nonsynonymous SNV L739I 0.206 0.159 0.139 60 242 61 0.154 41 23 6 3 2 Benign 18.66 17928 chr4 47887991 47887991 G A rs6818556 NFXL1 Synonymous SNV T523T 0.729 0.714 0.684 294 856 274 0.754 201 308 92 67 112 8.442 17929 chr14 78235834 78235834 G A rs72687241 C14orf178 0.119 0.099 0.102 30 140 38 0.077 30 10 2 1 1 16.65 17930 chr14 94394715 94394715 C T rs11554726 FAM181A Synonymous SNV S28S 0.152 0.146 0.139 67 179 56 0.172 41 10 4 3 1 8.465 17931 chr14 60010118 60010118 C T rs35772349 CCDC175 Synonymous SNV K409K 0.015 0.018 0.02 2 18 7 0.005 6 0 0 0 0 7.568 17932 chr4 47973110 47973110 G A rs7693648 CNGA1 Nonsynonymous SNV S3F 0.402 0.383 0.122 205 472 147 0.526 36 187 59 16 81 0.074 17933 chr14 65207819 65207819 C T rs17767238 PLEKHG3 Synonymous SNV A528A 0.063 0.07 0.071 29 74 27 0.074 21 5 1 2 1 8.188 17934 chr16 57953010 57953010 C G rs35424571 CNGB1 Synonymous SNV P644P 0.057 0.068 0.058 14 67 26 0.036 17 1 0 1 0 Likely benign 12.09 17935 chr14 68029118 68029118 C A rs45616031 PLEKHH1 Nonsynonymous SNV P257H 0.032 0.023 0.041 7 37 9 0.018 12 1 1 0 0 0.598 17936 chr16 57957216 57957216 A G rs12927214 CNGB1 Nonsynonymous SNV V529A 0.057 0.068 0.054 14 67 26 0.036 16 1 0 1 0 Likely benign 1.041 17937 chr14 61550315 61550315 C T rs8016782 SLC38A6 Nonsynonymous SNV A484V 0.018 0.023 0.02 7 21 9 0.018 6 0 0 0 0 15.47 17938 chr4 48069696 48069696 G C rs2230594 TXK Synonymous SNV A514A 0.482 0.469 0.418 188 566 180 0.482 123 126 38 24 43 2.355 17939 chr4 48115264 48115264 C T rs7658300 TXK Nonsynonymous SNV R45H 0.331 0.328 0.33 145 389 126 0.372 97 59 17 18 26 0.056 17940 chr4 4249855 4249855 G A rs2272747 TMEM128 Synonymous SNV D25D 0.118 0.109 0.112 43 138 42 0.11 33 6 1 3 2 5.239 17941 chr16 57996932 57996932 G A rs17821448 CNGB1 Synonymous SNV G109G 0.449 0.464 0.452 151 527 178 0.387 133 113 33 33 25 Benign 11.16 17942 chr14 80971261 80971261 C T rs61744330 CEP128 Nonsynonymous SNV V1059M 0.082 0.128 0.075 30 96 49 0.077 22 4 2 1 0 22.7 17943 chr14 77926017 77926017 G C rs777574580 AHSA1 Nonsynonymous SNV V47L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.429 17944 chr16 57996960 57996960 C T rs13336595 CNGB1 Nonsynonymous SNV R100H 0.696 0.664 0.721 254 817 255 0.651 212 277 79 77 83 Benign 22.6 17945 chr4 48147309 48147309 T C rs17574371 TEC Synonymous SNV K419K 0.342 0.344 0.35 157 402 132 0.403 103 62 22 18 30 2.327 17946 chr16 58019396 58019396 G A rs9934227 TEPP Nonsynonymous SNV S260N 0.876 0.885 0.874 335 1029 340 0.859 257 447 150 114 144 10.66 17947 chr4 48492434 48492434 G C rs10008444 ZAR1 Nonsynonymous SNV Q42H 1 1 0.827 389 1174 384 0.997 243 587 192 121 194 0.013 17948 chr4 4249909 4249909 C T rs2272746 TMEM128 Synonymous SNV R7R 0.329 0.323 0.286 116 386 124 0.297 84 61 20 14 19 11.06 17949 chr16 58030634 58030634 C T rs3743556 ZNF319 Synonymous SNV K512K 0.698 0.698 0.697 274 820 268 0.703 205 281 94 71 88 6.772 17950 chr4 48555265 48555265 T C rs201826654 FRYL Nonsynonymous SNV T1468A 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 18.09 17951 chr16 58318604 58318604 T C rs3815803 PRSS54 Nonsynonymous SNV S83G 0.537 0.516 0.585 215 631 198 0.551 172 160 51 54 59 15.61 17952 chr14 77942316 77942316 G A rs3742732 ISM2 Synonymous SNV D446D 0.06 0.052 0.044 17 70 20 0.044 13 2 0 1 0 1.42 17953 chr4 48588742 48588742 C T rs34558821 FRYL Synonymous SNV G548G 0.442 0.448 0.384 147 519 172 0.377 113 116 35 18 32 14.36 17954 chr16 58327646 58327646 A G rs2288012 PRSS54 Synonymous SNV Y25Y 0.717 0.695 0.765 286 842 267 0.733 225 303 90 87 103 0.002 17955 chr14 94847415 94847415 A G rs6647 SERPINA1 Nonsynonymous SNV V237A 0.179 0.159 0.146 58 210 61 0.149 43 13 6 3 4 Benign 0.001 17956 chr4 5021149 5021149 G A rs35263598 CYTL1 Synonymous SNV P8P 0.1 0.112 0.167 40 117 43 0.103 49 21 9 7 5 6.752 17957 chr16 58538309 58538309 G A rs145919586 NDRG4 Nonsynonymous SNV V117M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 17958 chr14 64066340 64066340 A G rs901783679 WDR89 Synonymous SNV V107V 0.041 0.047 0 21 48 18 0.054 0 0 0 0 0 0.019 17959 chr4 48988450 48988450 C A rs3747690 CWH43 Nonsynonymous SNV P2T 0.563 0.523 0.537 183 661 201 0.469 158 180 52 40 43 0.005 17960 chr14 60616886 60616886 C T rs34583017 DHRS7 Nonsynonymous SNV R138Q 0.02 0.021 0.024 7 24 8 0.018 7 0 0 0 0 23.7 17961 chr14 68060574 68060574 G A rs45474396 PIGH Synonymous SNV I92I 0.119 0.109 0.109 41 140 42 0.105 32 14 4 2 2 12.95 17962 chr14 64066352 64066352 T A rs1009886361 WDR89 Nonsynonymous SNV R103S 0.056 0.076 0 31 66 29 0.079 0 0 0 0 0 0.001 17963 chr14 77965094 77965094 G A rs12431905 ISM2 Synonymous SNV L15L 0.062 0.055 0.037 18 73 21 0.046 11 2 0 1 0 7.111 17964 chr4 5448429 5448429 A G rs3733182 STK32B Nonsynonymous SNV R168G 0.132 0.141 0.122 64 155 54 0.164 36 12 7 1 4 16.62 17965 chr16 58616984 58616984 T C rs17854029 CNOT1 Synonymous SNV G303G 0.434 0.427 0.371 137 510 164 0.351 109 111 36 18 19 8.67 17966 chr4 52938243 52938243 T C rs3860707 SPATA18 Nonsynonymous SNV S2P 0.707 0.698 0.67 263 830 268 0.674 197 296 99 64 84 0.117 17967 chr14 64066363 64066363 G A rs944955056 WDR89 Stop gain R100X 0.066 0.091 0 33 77 35 0.085 0 0 0 0 0 35 17968 chr16 58743454 58743454 A C rs30842 GOT2 Nonsynonymous SNV V303G 0.816 0.789 0.762 324 958 303 0.831 224 394 118 85 135 13.21 17969 chr14 64066367 64066367 A T rs968117645 WDR89 Nonsynonymous SNV D98E 0.066 0.094 0 33 78 36 0.085 0 0 0 0 0 15.72 17970 chr4 54011526 54011526 A G rs7675987 SCFD2 Nonsynonymous SNV L512S 0.382 0.438 0.364 159 448 168 0.408 107 83 36 18 31 21.1 17971 chr16 58750604 58750604 G A rs1058192 GOT2 Synonymous SNV C229C 0.764 0.721 0.694 307 897 277 0.787 204 348 98 74 123 10.49 17972 chr4 5624670 5624670 T C rs730469 EVC2 Nonsynonymous SNV T619A 0.365 0.349 0.293 147 429 134 0.377 86 82 20 12 31 Benign 0.001 17973 chr14 64066373 64066373 G A rs752646441 WDR89 Synonymous SNV C96C 0.072 0.094 0 33 84 36 0.085 0 0 0 0 0 0.115 17974 chr14 79270093 79270093 G A rs2288140 NRXN3 Synonymous SNV T352T 0.055 0.036 0.034 16 64 14 0.041 10 1 0 0 0 8.659 17975 chr16 58757668 58757668 A C rs14221 GOT2 Synonymous SNV V76V 0.763 0.721 0.711 306 896 277 0.785 209 347 99 74 122 0.636 17976 chr14 64066379 64066379 C T rs117229690 WDR89 Synonymous SNV V94V 0.073 0.104 0 34 86 40 0.087 0 0 0 0 0 0.187 17977 chr16 58757683 58757683 A G rs257636 GOT2 Synonymous SNV N71N 0.763 0.721 0.711 306 896 277 0.785 209 347 99 74 122 6.809 17978 chr4 54966830 54966830 G A rs13144341 GSX2 Nonsynonymous SNV G107S 0.999 1 0.976 389 1173 384 0.997 287 586 192 142 194 7.25 17979 chr14 68257485 68257485 C T rs7143196 ZFYVE26 Synonymous SNV L853L 0.162 0.172 0.143 67 190 66 0.172 42 15 4 3 5 Benign 13.53 17980 chr4 5710189 5710189 G A rs6820907 EVC2 Nonsynonymous SNV L18F 0.045 0.018 0.02 14 53 7 0.036 6 11 2 0 3 Benign 5.385 17981 chr14 64066394 64066394 A G rs959084766 WDR89 Synonymous SNV C89C 0.077 0.109 0 35 90 42 0.09 0 0 0 0 0 0.729 17982 chr14 73711367 73711367 C T rs377339624 PAPLN Nonsynonymous SNV R24W 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 17983 chr16 59788362 59788362 T C rs2289825 APOOP5 0 0 0.388 0 0 0 0 114 0 0 15 0 13.7 17984 chr14 64066395 64066395 C T rs992348595 WDR89 Nonsynonymous SNV C89Y 0.077 0.109 0 33 90 42 0.085 0 0 0 0 0 23.9 17985 chr16 601632 601632 T C rs3213574 CAPN15 Synonymous SNV G771G 0.443 0.427 0.432 174 520 164 0.446 127 119 41 26 37 2.711 17986 chr4 55138670 55138670 A G rs775373016 PDGFRA Nonsynonymous SNV I449M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 12.58 17987 chr14 94933473 94933473 C A rs28618118 SERPINA9 Nonsynonymous SNV R212I 0.293 0.284 0.282 120 344 109 0.308 83 45 14 12 16 23.3 17988 chr16 602313 602313 C A rs9930550 CAPN15 Synonymous SNV A840A 0.374 0.328 0.354 160 439 126 0.41 104 90 26 20 30 13.27 17989 chr14 64066398 64066398 G C rs918064794 WDR89 Nonsynonymous SNV A88G 0.074 0.107 0 33 87 41 0.085 0 0 0 0 0 15.11 17990 chr4 55141055 55141055 A G rs1873778 PDGFRA Synonymous SNV P567P 0.998 0.997 0.99 389 1172 383 0.997 291 585 191 144 194 Benign 0.008 17991 chr16 61689597 61689597 A G rs34124175 CDH8 Synonymous SNV H561H 0.011 0.01 0.02 5 13 4 0.013 6 0 0 0 0 5.686 17992 chr14 94933640 94933640 A T rs28583900 SERPINA9 Nonsynonymous SNV H156Q 0.293 0.284 0.282 119 344 109 0.305 83 45 14 12 15 0.001 17993 chr16 65016087 65016087 A C rs35213 CDH11 Nonsynonymous SNV S247A 0.823 0.81 0.864 317 966 311 0.813 254 395 123 111 126 0.122 17994 chr4 55147769 55147769 C T rs2291591 PDGFRA Nonsynonymous SNV T782M 0.114 0.104 0.122 42 134 40 0.108 36 7 1 2 2 not provided 4.347 17995 chr14 64066402 64066402 A G rs940317302 WDR89 Nonsynonymous SNV S87P 0.066 0.102 0 32 78 39 0.082 0 0 0 0 0 26.4 17996 chr14 78374172 78374172 C T rs34272020 ADCK1 Synonymous SNV S188S 0.13 0.122 0.102 61 153 47 0.156 30 8 3 1 4 14.8 17997 chr14 94933695 94933695 G A rs17090921 SERPINA9 Nonsynonymous SNV P138L 0.289 0.284 0.282 117 339 109 0.3 83 46 14 12 14 14.35 17998 chr4 55161391 55161391 T C rs7685117 PDGFRA Synonymous SNV D1074D 1 0.997 0.993 389 1174 383 0.997 292 587 191 145 194 Benign 2.666 17999 chr16 65397360 65397360 G A rs9939648 LINC00922 0 0 0.224 0 0 0 0 66 0 0 11 0 6.443 18000 chr14 78390880 78390880 T C rs2302944 ADCK1 Synonymous SNV N245N 0.214 0.148 0.197 67 251 57 0.172 58 33 6 6 7 3.673 18001 chr16 66420885 66420885 C T rs1130844 CDH5 Synonymous SNV G128G 0.493 0.518 0.5 161 579 199 0.413 147 137 56 37 34 13.25 18002 chr4 56262374 56262374 A G rs1128141 TMEM165 Synonymous SNV P6P 0.589 0.581 0.551 238 691 223 0.61 162 233 75 51 78 Benign 0.003 18003 chr16 66432381 66432381 T C rs16956504 CDH5 Nonsynonymous SNV I503T 0.095 0.089 0.068 20 111 34 0.051 20 5 0 0 0 11.26 18004 chr4 56309992 56309992 A G rs3736544 CLOCK Synonymous SNV N588N 0.624 0.622 0.626 245 733 239 0.628 184 234 74 55 77 1.46 18005 chr14 94935566 94935566 G A rs4900231 SERPINA9 Synonymous SNV N124N 0.199 0.214 0.204 85 234 82 0.218 60 29 12 5 6 7.278 18006 chr4 5749961 5749961 G C rs4688962 EVC Synonymous SNV L342L 0.371 0.385 0.473 182 435 148 0.467 139 75 34 30 43 Benign 5.48 18007 chr16 66432423 66432423 T C rs1049970 CDH5 Nonsynonymous SNV I517T 0.721 0.693 0.673 248 847 266 0.636 198 299 90 66 80 11.08 18008 chr4 57180473 57180473 C A rs6823339 CRACD Nonsynonymous SNV L269I 0.388 0.404 0.344 174 455 155 0.446 101 89 39 16 41 21.7 18009 chr14 88442712 88442712 C T rs34362748 GALC Nonsynonymous SNV D225N 0.128 0.128 0.156 52 150 49 0.133 46 6 3 3 3 Benign, other 27.8 18010 chr16 66432424 66432424 C T rs3826229 CDH5 Synonymous SNV I517I 0.369 0.375 0.388 113 433 144 0.29 114 74 31 19 15 11.96 18011 chr4 57180576 57180576 - GGAGCGGAGGGAGCGGAG rs11276076 CRACD R308_E309insRERRER 0.124 0.169 0.207 84 145 65 0.215 61 61 25 14 35 18012 chr14 88459434 88459434 G T rs111976362 GALC Synonymous SNV G25G 0.128 0.12 0.16 51 150 46 0.131 47 7 3 3 3 Benign 12.47 18013 chr4 5755524 5755524 G A rs35953626 EVC Nonsynonymous SNV R443Q 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Benign 16.07 18014 chr4 57180616 57180616 G C rs11723379 CRACD Synonymous SNV A316A 0.137 0.146 0.163 84 161 56 0.215 48 63 22 14 32 12.03 18015 chr16 66503748 66503748 G A rs767479273 BEAN1 Nonsynonymous SNV R90Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.47 18016 chr14 81837402 81837402 C T rs77217267 STON2 Synonymous SNV S167S 0.013 0.005 0.017 3 15 2 0.008 5 0 0 0 0 17.63 18017 chr14 88459448 88459448 C G rs111887056 GALC Nonsynonymous SNV A21P 0.128 0.12 0.16 51 150 46 0.131 47 7 3 3 3 Benign 29.9 18018 chr4 57181632 57181632 G C rs7672073 CRACD Nonsynonymous SNV R655P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.83 18019 chr14 81952649 81952649 G A rs11851475 SEL1L Synonymous SNV A594A 0.033 0.021 0.02 7 39 8 0.018 6 1 0 0 0 13.65 18020 chr16 66792714 66792714 T C rs363156 TERB1 Nonsynonymous SNV Q653R 0.38 0.406 0.429 138 446 156 0.354 126 83 31 28 24 0.001 18021 chr14 95081081 95081081 A G rs17826465 SERPINA3 Synonymous SNV K101K 0.139 0.125 0.167 60 163 48 0.154 49 12 3 4 4 Benign 0.038 18022 chr14 88459467 88459467 C G rs112992946 GALC Synonymous SNV A14A 0.128 0.12 0.16 51 150 46 0.131 47 7 3 3 3 Benign 13.72 18023 chr14 95884323 95884323 G A rs12434757 SYNE3 Nonsynonymous SNV A918V 0.64 0.667 0.527 259 751 256 0.664 155 244 83 54 89 13.7 18024 chr4 57190356 57190356 G A rs7695701 CRACD Synonymous SNV R1155R 0.409 0.414 0.361 174 480 159 0.446 106 88 37 20 40 14.1 18025 chr16 66812797 66812797 C T rs363162 TERB1 Synonymous SNV T274T 0.482 0.521 0.582 193 566 200 0.495 171 134 58 49 46 18.68 18026 chr4 5785442 5785442 G A rs1383180 EVC Nonsynonymous SNV R576Q 0.405 0.362 0.367 158 476 139 0.405 108 93 24 19 30 Benign 24.9 18027 chr4 57213858 57213858 G A rs4864578 AASDH Nonsynonymous SNV P844L 0.544 0.555 0 228 639 213 0.585 0 176 63 0 66 3.29 18028 chr16 67233266 67233266 A C rs12923138 ELMO3 Nonsynonymous SNV K13Q 0.469 0.464 0.524 219 551 178 0.562 154 131 36 36 62 15.35 18029 chr4 57215677 57215677 G A rs3796544 AASDH Nonsynonymous SNV A262V 0.416 0.424 0.367 178 488 163 0.456 108 90 39 21 41 0.001 18030 chr14 70989762 70989762 T C rs9323540 ADAM20 Synonymous SNV V571V 0.044 0.036 0.048 8 52 14 0.021 14 1 0 1 0 0.16 18031 chr16 67691668 67691668 A G rs6979 ACD Nonsynonymous SNV V432A 0.503 0.51 0.595 231 590 196 0.592 175 146 51 52 71 8.297 18032 chr4 57219592 57219592 G A rs6554348 AASDH Synonymous SNV D33D 0.585 0.599 0.551 242 687 230 0.621 162 207 77 41 75 0.197 18033 chr14 70990398 70990398 G A rs10162314 ADAM20 Synonymous SNV C359C 0.043 0.036 0.048 9 51 14 0.023 14 1 0 1 0 4.701 18034 chr4 57237683 57237683 G A rs6554354 AASDH Synonymous SNV S165S 0.418 0.422 0.364 177 491 162 0.454 107 91 38 21 41 10.23 18035 chr16 67979423 67979423 G T rs17851876 SLC12A4 Synonymous SNV R963R 0.044 0.052 0.041 31 52 20 0.079 12 3 0 0 1 10.96 18036 chr4 57268328 57268328 T C rs2271924 PPAT Synonymous SNV T227T 0.076 0.065 0.061 29 89 25 0.074 18 2 1 0 1 5.898 18037 chr16 68011576 68011576 C T rs113700215 DPEP3 Nonsynonymous SNV D305N 0.013 0.013 0.02 18 15 5 0.046 6 0 0 0 0 31 18038 chr4 57273840 57273840 C G rs11538098 PPAT Synonymous SNV S57S 0.404 0.419 0.361 174 474 161 0.446 106 87 38 20 38 15.78 18039 chr16 68025801 68025801 G C rs255051 DPEP2 Nonsynonymous SNV P43R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.024 18040 chr4 57361553 57361553 A G rs34419325 SRP72 Synonymous SNV K496K 0.078 0.068 0.044 28 92 26 0.072 13 2 1 0 0 Benign 4.756 18041 chr14 88459795 88459795 C T rs73312836 GALC Nonsynonymous SNV A17T 0.089 0.081 0.099 40 105 31 0.103 29 8 1 0 4 8.197 18042 chr14 81743718 81743718 C T rs34323725 STON2 Nonsynonymous SNV R646H 0.063 0.063 0.095 29 74 24 0.074 28 1 1 0 1 7.582 18043 chr16 68057096 68057096 T C rs237831 DDX28 Nonsynonymous SNV T4A 0.864 0.878 0.922 344 1014 337 0.882 271 434 149 124 149 0.001 18044 chr4 57516896 57516896 G A rs4371677 HOPX Nonsynonymous SNV P94L 0.512 0.495 0.466 196 601 190 0.503 137 149 47 30 45 0.095 18045 chr14 64604592 64604592 C G rs17766354 SYNE2 Nonsynonymous SNV P4912A 0.06 0.047 0.068 28 70 18 0.072 20 1 0 2 0 Benign 22.8 18046 chr16 68225515 68225515 G A rs12598 NFATC3 Synonymous SNV T981T 0.044 0.031 0.048 13 52 12 0.033 14 1 1 1 0 3.952 18047 chr4 57522134 57522134 C T rs11555052 HOPX Synonymous SNV E11E 0.019 0.029 0.017 12 22 11 0.031 5 0 1 0 0 Benign 14.23 18048 chr16 68344696 68344696 C T rs3803650 SLC7A6OS Nonsynonymous SNV G45D 0.555 0.557 0.544 209 651 214 0.536 160 165 55 44 54 0.038 18049 chr14 74340927 74340927 A G rs75892130 PTGR2 Nonsynonymous SNV I120V 0.053 0.052 0.054 28 62 20 0.072 16 0 1 1 2 7.523 18050 chr4 57687711 57687711 T C rs781543 SPINK2 Nonsynonymous SNV T40A 0.087 0.065 0.082 25 102 25 0.064 24 7 2 1 0 7.683 18051 chr16 68387373 68387373 C T rs1562479 PRMT7 Synonymous SNV D519D 0.491 0.497 0.435 176 576 191 0.451 128 128 42 32 42 8.866 18052 chr4 57687719 57687719 C T rs781544 SPINK2 Nonsynonymous SNV G37E 0.087 0.065 0.082 25 102 25 0.064 24 7 2 1 0 10.69 18053 chr14 64634067 64634067 A G rs17101704 SYNE2 Synonymous SNV Q5574Q 0.058 0.047 0.068 29 68 18 0.074 20 1 0 2 0 Benign 7.421 18054 chr16 68389772 68389772 C T rs1131933 PRMT7 Synonymous SNV T549T 0.367 0.391 0.354 132 431 150 0.338 104 67 27 26 24 12.13 18055 chr14 73422350 73422350 T G rs2806034 DCAF4 Synonymous SNV S315S 0.233 0.188 0.241 72 273 72 0.185 71 26 5 10 6 9.655 18056 chr14 74402693 74402693 C T rs17182699 FAM161B Synonymous SNV R588R 0.07 0.073 0.082 35 82 28 0.09 24 2 2 0 2 9.92 18057 chr16 68398924 68398924 C T rs1868158 SMPD3 Synonymous SNV P465P 0.552 0.557 0.534 204 648 214 0.523 157 161 52 47 54 17.43 18058 chr4 57843320 57843320 A G rs4865167 NOA1 Synonymous SNV C144C 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.963 18059 chr16 68591955 68591955 C T rs748062574 ZFP90 Nonsynonymous SNV H30Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.722 18060 chr4 6293696 6293696 C G rs1801213 WFS1 Synonymous SNV R228R 0.721 0.745 0.667 288 847 286 0.738 196 310 104 65 108 Benign 12.77 18061 chr14 64683003 64683003 C T rs770729523 SYNE2 Synonymous SNV P114P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 18062 chr4 57876955 57876955 G A rs1718878 POLR2B Synonymous SNV A455A 0.338 0.396 0.276 117 397 152 0.3 81 70 28 19 23 12.87 18063 chr14 96790337 96790337 - A rs34296665 ATG2B 0.329 0.289 0.327 125 386 111 0.321 96 68 20 21 21 18064 chr16 68732049 68732049 A C rs3114409 CDH3 Nonsynonymous SNV R778S 0.27 0.302 0.255 134 317 116 0.344 75 43 18 11 19 0.085 18065 chr4 57881715 57881715 G A rs1713982 POLR2B Synonymous SNV T541T 0.32 0.378 0.357 110 376 145 0.282 105 70 28 20 23 16.99 18066 chr4 57889677 57889677 C T rs1056364 POLR2B Synonymous SNV S824S 0.572 0.552 0.558 235 671 212 0.603 164 186 55 46 73 18.64 18067 chr16 68857441 68857441 T C rs1801552 CDH1 Synonymous SNV A631A 0.57 0.583 0.602 216 669 224 0.554 177 192 66 56 61 Benign 6.218 18068 chr4 6302707 6302707 C T rs1801206 WFS1 Synonymous SNV V395V 0.624 0.651 0.565 245 733 250 0.628 166 231 80 45 75 Benign 7.842 18069 chr4 62598689 62598689 C T rs10434219 ADGRL3 Synonymous SNV H199H 0.679 0.685 0.684 268 797 263 0.687 201 260 91 68 90 6.184 18070 chr16 69143577 69143577 A G rs2232228 HAS3 Synonymous SNV A93A 0.426 0.414 0.463 167 500 159 0.428 136 103 34 32 41 drug response 9.396 18071 chr4 6303022 6303022 C T rs1801214 WFS1 Synonymous SNV N500N 0.641 0.659 0.582 259 753 253 0.664 171 246 83 49 86 Benign 0.924 18072 chr4 62800728 62800728 T C rs734644 ADGRL3 Synonymous SNV N675N 0.71 0.719 0.704 270 833 276 0.692 207 292 99 72 96 0.694 18073 chr14 73743305 73743305 G A NUMB Nonsynonymous SNV T587M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 18074 chr16 69221510 69221510 C G rs10650 SNTB2 Synonymous SNV P147P 0.228 0.247 0.19 88 268 95 0.226 56 28 11 3 10 14.92 18075 chr4 6303354 6303354 G A rs734312 WFS1 Nonsynonymous SNV R611H 0.56 0.578 0.514 221 658 222 0.567 151 198 57 40 59 Benign 11.69 18076 chr14 91252545 91252545 G A rs17794971 TTC7B Synonymous SNV T83T 0.02 0.036 0.014 13 23 14 0.033 4 0 0 0 2 13.89 18077 chr4 62845388 62845388 G C rs1397547 ADGRL3 Synonymous SNV R885R 0.913 0.914 0.915 347 1072 351 0.89 269 490 160 123 153 10.04 18078 chr16 69354963 69354963 A G rs1127231 VPS4A Synonymous SNV K287K 0.318 0.297 0.279 112 373 114 0.287 82 49 17 8 18 10.68 18079 chr14 74059095 74059095 G A ACOT4 Synonymous SNV V144V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.794 18080 chr14 74512816 74512816 C A rs141857440 BBOF1 Synonymous SNV A210A 0.025 0.021 0.007 13 29 8 0.033 2 1 0 0 0 18.26 18081 chr4 62845490 62845490 A G rs1397548 ADGRL3 Synonymous SNV P919P 0.689 0.69 0.718 261 809 265 0.669 211 286 89 74 89 1.292 18082 chr16 69363982 69363982 G A rs138307515 PDF Synonymous SNV R164R 0.009 0.018 0.007 4 10 7 0.01 2 0 0 0 0 4.252 18083 chr4 6303955 6303955 G A rs1046314 WFS1 Synonymous SNV K811K 0.625 0.651 0.565 243 734 250 0.623 166 233 80 45 73 Benign 4.992 18084 chr16 69373414 69373414 T C rs11542583 COG8 Synonymous SNV T14T 0.313 0.289 0.272 111 368 111 0.285 80 49 16 8 18 Benign 4.202 18085 chr4 6304087 6304087 A G rs1046316 WFS1 Synonymous SNV S855S 0.735 0.747 0.707 289 863 287 0.741 208 319 107 72 108 Benign 0.002 18086 chr4 65274937 65274937 G A rs61744866 TECRL Nonsynonymous SNV P45S 0.032 0.036 0.017 6 37 14 0.015 5 1 0 0 0 10.63 18087 chr16 69752373 69752373 C T rs689453 NQO1 Synonymous SNV E24E 0.113 0.078 0.099 47 133 30 0.121 29 7 0 2 5 17.57 18088 chr15 100252792 100252792 G A rs769355862 MEF2A Nonsynonymous SNV R369Q 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 25.1 18089 chr4 6325086 6325086 G A rs3796403 PPP2R2C Synonymous SNV I415I 0.639 0.604 0.66 249 750 232 0.638 194 241 68 65 80 10.74 18090 chr14 65009220 65009220 C T rs11551976 HSPA2 Synonymous SNV N551N 0.074 0.094 0.054 35 87 36 0.09 16 4 2 0 3 9.811 18091 chr16 69963355 69963355 G A rs1566452 WWP2 Synonymous SNV K297K 0.753 0.779 0.752 305 884 299 0.782 221 333 115 88 118 12.98 18092 chr4 66197804 66197804 C T rs7349683 EPHA5 Synonymous SNV G944G 0.348 0.328 0.354 116 409 126 0.297 104 72 19 19 20 11.47 18093 chr16 69967897 69967897 T C rs2270841 WWP2 Synonymous SNV H130H 0.754 0.779 0.752 306 885 299 0.785 221 334 115 88 119 3.001 18094 chr15 100269613 100269613 C T rs11852387 LYSMD4 Synonymous SNV P141P 0.067 0.081 0.061 23 79 31 0.059 18 2 1 0 0 10.09 18095 chr16 69970329 69970329 A G rs1983016 WWP2 Synonymous SNV T258T 0.762 0.786 0.755 310 895 302 0.795 222 343 118 89 123 0.133 18096 chr4 68374597 68374597 C T rs1056789 CENPC Synonymous SNV S613S 0.664 0.625 0.639 265 780 240 0.679 188 260 73 63 89 11.39 18097 chr16 70190401 70190401 C T rs6499302 PDPR Synonymous SNV D653D 0.404 0.424 0.401 153 474 163 0.392 118 0 0 0 0 9.467 18098 chr4 68380070 68380070 C T rs1056787 CENPC Nonsynonymous SNV G389D 0.086 0.047 0.068 36 101 18 0.092 20 1 1 2 2 0.03 18099 chr16 70287177 70287177 A G rs4081753 AARS1 Synonymous SNV V905V 0.819 0.836 0.823 331 961 321 0.849 242 401 134 100 143 Benign 7.929 18100 chr14 74759059 74759059 G C rs35073715 ABCD4 Nonsynonymous SNV T87R 0.035 0.021 0.01 4 41 8 0.01 3 1 0 0 0 Benign 22.5 18101 chr16 70303580 70303580 G A rs2070203 AARS1 Synonymous SNV H301H 0.49 0.495 0.463 207 575 190 0.531 136 149 42 31 55 Benign 10.06 18102 chr4 68380215 68380215 G A rs11250 CENPC Nonsynonymous SNV L341F 0.665 0.625 0.629 265 781 240 0.679 185 261 73 63 89 6.241 18103 chr16 70395387 70395387 C T rs1134074 DDX19A Synonymous SNV N120N 0.335 0.336 0.35 152 393 129 0.39 103 70 18 20 29 10.8 18104 chr16 70506907 70506907 T C rs7192865 FCSK Synonymous SNV P476P 0.46 0.443 0.435 192 540 170 0.492 128 128 36 32 42 0.007 18105 chr4 68384008 68384008 C T rs355510 CENPC Synonymous SNV S232S 0.654 0.609 0.595 261 768 234 0.669 175 261 72 62 89 12.06 18106 chr14 93118229 93118229 C T rs117068593 RIN3 Nonsynonymous SNV R204C 0.194 0.214 0.17 66 228 82 0.169 50 27 7 6 7 23.9 18107 chr16 70515355 70515355 C T rs11054 COG4 Synonymous SNV S689S 0.433 0.424 0.415 182 508 163 0.467 122 110 34 30 38 Benign 19.62 18108 chr15 100649248 100649248 G A rs61752832 ADAMTS17 Synonymous SNV D654D 0.098 0.099 0.061 40 115 38 0.103 18 5 2 0 0 Benign 11.16 18109 chr14 75230953 75230953 C T rs45599947 YLPM1 Nonsynonymous SNV P254L 0.086 0.086 0.082 25 101 33 0.064 24 1 3 1 1 13.45 18110 chr4 68442968 68442968 A G rs11556614 STAP1 Synonymous SNV T118T 0.566 0.547 0.643 225 665 210 0.577 189 228 66 64 69 0.066 18111 chr16 70548297 70548297 G A rs3931036 COG4 Nonsynonymous SNV T158I 0.963 0.966 0.973 384 1130 371 0.985 286 545 180 139 190 Benign 12.26 18112 chr4 68447040 68447040 C T rs11556615 STAP1 Synonymous SNV N127N 0.278 0.201 0.31 120 326 77 0.308 91 44 9 16 18 15.57 18113 chr14 92441066 92441066 C T rs1051340 TRIP11 Nonsynonymous SNV G1826S 0.279 0.286 0.054 118 328 110 0.303 16 45 19 5 15 Benign 22.9 18114 chr16 70595553 70595553 C T rs200151222 SF3B3 Synonymous SNV R718R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 18115 chr4 68562365 68562365 A G rs17572160 UBA6 Synonymous SNV Y44Y 0.246 0.219 0.262 112 289 84 0.287 77 40 9 11 15 10.47 18116 chr16 70726795 70726795 C A rs2278983 VAC14 Synonymous SNV P471P 0.404 0.372 0.422 164 474 143 0.421 124 104 26 31 33 20.4 18117 chr4 68780399 68780399 A G rs1371932 TMPRSS11A Synonymous SNV D334D 0.436 0.438 0.503 165 512 168 0.423 148 115 37 35 37 0.085 18118 chr14 92537353 92537353 - G rs763461489 ATXN3 Frameshift insertion P25Tfs*24 0.216 0.216 0.241 96 253 83 0.246 71 22 10 12 9 18119 chr14 93943998 93943998 G A rs61992606 UNC79 Synonymous SNV T181T 0.282 0.266 0.241 104 331 102 0.267 71 48 11 9 16 13.36 18120 chr14 75245368 75245368 C T rs57404741 YLPM1 Synonymous SNV L364L 0.089 0.086 0.099 27 105 33 0.069 29 6 1 2 1 14.36 18121 chr16 70815838 70815838 G A rs146617185 VAC14 Synonymous SNV L60L 0.014 0.013 0.014 1 17 5 0.003 4 0 0 0 0 Benign 12.16 18122 chr4 68784774 68784774 T C rs353163 TMPRSS11A Nonsynonymous SNV Q290R 0.554 0.57 0.609 210 650 219 0.538 179 189 66 51 55 0.006 18123 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*63 0.045 0.055 0.017 15 53 21 0.038 5 0 0 1 0 18124 chr14 92548785 92548785 C T rs1048755 ATXN3 Nonsynonymous SNV V91M 0.221 0.219 0.245 96 260 84 0.246 72 22 10 11 9 Likely benign 21.2 18125 chr16 71318001 71318001 G T rs3096381 CMTR2 Nonsynonymous SNV T608K 0.176 0.172 0.15 62 207 66 0.159 44 21 11 1 8 0.02 18126 chr4 68810246 68810246 G A rs1370840 TMPRSS11A Synonymous SNV T81T 0.264 0.276 0.252 100 310 106 0.256 74 45 16 9 14 8.225 18127 chr16 71319539 71319539 C T rs3826247 CMTR2 Synonymous SNV A95A 0.646 0.62 0.65 241 758 238 0.618 191 239 75 60 81 13 18128 chr4 68812283 68812283 C T rs11930532 TMPRSS11A Synonymous SNV V6V 0.735 0.721 0.741 287 863 277 0.736 218 321 101 81 108 7.574 18129 chr16 71319646 71319646 G A rs3096380 CMTR2 Nonsynonymous SNV L60F 0.972 0.966 0.966 374 1141 371 0.959 284 555 180 137 180 3.498 18130 chr4 68829109 68829109 C T rs977728 TMPRSS11A Star tloss M2del 0.263 0.266 0.228 97 309 102 0.249 67 45 15 8 15 0.005 18131 chr14 68219200 68219200 C T rs34373049 ZFYVE26 Nonsynonymous SNV R2411H 0.019 0.023 0.014 3 22 9 0.008 4 0 0 0 0 Benign/Likely benign 28.8 18132 chr16 71411636 71411636 G A rs11545954 CALB2 Nonsynonymous SNV A110T 0.122 0.107 0.105 44 143 41 0.113 31 10 7 1 4 22.1 18133 chr15 101041896 101041896 T C rs1354332 CERS3 Synonymous SNV R53R 0.847 0.852 0.837 331 994 327 0.849 246 424 141 105 141 3.767 18134 chr4 68995529 68995529 C T rs10030708 TMPRSS11F Nonsynonymous SNV A4T 0.259 0.25 0.296 109 304 96 0.279 87 45 8 13 16 16.99 18135 chr14 91642395 91642395 G A rs34302825 DGLUCY Nonsynonymous SNV S242N 0.061 0.068 0.075 34 72 26 0.087 22 3 0 1 0 9.303 18136 chr16 71466088 71466088 A G rs4620964 TLE7 Synonymous SNV S178S 0 0 0.769 0 0 0 0 226 0 0 87 0 0.372 18137 chr16 71487206 71487206 T C rs2070832 ZNF23 Nonsynonymous SNV S28G 0.761 0.758 0.759 294 893 291 0.754 223 339 112 85 114 7.46 18138 chr4 69094507 69094507 T A rs2319797 TMPRSS11B Nonsynonymous SNV T348S 0.67 0.677 0.714 262 786 260 0.672 210 262 90 73 86 0.104 18139 chr14 91700552 91700552 G C rs150575263 GPR68 Synonymous SNV A281A 0.016 0.008 0.01 5 19 3 0.013 3 0 0 0 0 7.895 18140 chr14 75513463 75513463 A G rs17782839 MLH3 Nonsynonymous SNV S966P 0.05 0.042 0.02 17 59 16 0.044 6 0 0 0 0 Benign/Likely benign 0.208 18141 chr16 71487952 71487952 G T rs11641967 ZNF23 Synonymous SNV A9A 0.215 0.237 0.197 88 252 91 0.226 58 26 13 6 12 10.18 18142 chr16 71509588 71509588 G A rs2288487 ZNF19 Synonymous SNV L288L 0.414 0.419 0.374 174 486 161 0.446 110 105 40 25 40 9.526 18143 chr4 7668880 7668880 C T rs33978179 SORCS2 Synonymous SNV Y367Y 0.053 0.065 0.065 15 62 25 0.038 19 3 1 1 0 7.691 18144 chr4 69094575 69094575 T G rs2319796 TMPRSS11B Nonsynonymous SNV D325A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.028 18145 chr16 71509634 71509634 G C rs2288488 ZNF19 Synonymous SNV P272P 0.416 0.419 0.395 174 488 161 0.446 116 106 40 25 40 4.513 18146 chr14 65054858 65054858 T C rs723594 PPP1R36 Synonymous SNV A309A 0.048 0.06 0.044 21 56 23 0.054 13 1 1 0 3 9.954 18147 chr14 91739108 91739108 C G rs45542736 CCDC88C Nonsynonymous SNV G1983A 0.024 0.008 0.02 7 28 3 0.018 6 0 0 0 0 Benign 1.115 18148 chr16 71509685 71509685 C G rs2288489 ZNF19 Synonymous SNV T255T 0.867 0.883 0.878 344 1018 339 0.882 258 438 151 113 150 9.985 18149 chr4 7716910 7716910 C T rs28531835 SORCS2 Synonymous SNV C708C 0.104 0.141 0.122 30 122 54 0.077 36 10 7 3 0 6.513 18150 chr4 69095197 69095197 T C rs12331141 TMPRSS11B Nonsynonymous SNV I242V 0.661 0.674 0.714 261 776 259 0.669 210 262 90 73 86 0.003 18151 chr16 71509796 71509796 C G rs8050871 ZNF19 Nonsynonymous SNV Q218H 0.789 0.802 0.823 322 926 308 0.826 242 362 124 103 131 23.8 18152 chr4 69962610 69962610 A G rs28365063 UGT2B7 Synonymous SNV R124R 0.135 0.148 0.16 60 159 57 0.154 47 9 4 3 5 drug response 0.009 18153 chr15 101110265 101110265 T A rs2411836 LINS1 Synonymous SNV T484T 0.417 0.44 0.401 150 490 169 0.385 118 106 40 25 30 Benign 8.199 18154 chr16 71682796 71682796 T C rs61733125 PHLPP2 Synonymous SNV L1256L 0.301 0.258 0.289 117 353 99 0.3 85 64 13 11 22 0.009 18155 chr14 91747832 91747832 C T rs139544500 CCDC88C Synonymous SNV L1556L 0.015 0 0.01 5 18 0 0.013 3 0 0 0 0 Benign/Likely benign 8.699 18156 chr16 71712786 71712786 A G rs61733126 PHLPP2 Synonymous SNV F380F 0.221 0.193 0.197 85 259 74 0.218 58 37 7 5 12 10.34 18157 chr15 101110302 101110302 C G rs2411837 LINS1 Nonsynonymous SNV S472T 0.354 0.378 0.34 127 416 145 0.326 100 72 29 20 22 Benign 8.76 18158 chr4 69964271 69964271 A G rs28365062 UGT2B7 Synonymous SNV T245T 0.202 0.177 0.177 66 237 68 0.169 52 27 6 3 5 drug response 0.021 18159 chr16 71773190 71773190 G T rs904763 AP1G1 Nonsynonymous SNV P685H 0.285 0.258 0.286 111 335 99 0.285 84 55 13 10 17 22.3 18160 chr4 7765495 7765495 G T rs2240053 AFAP1 Synonymous SNV T730T 0.106 0.099 0.122 33 125 38 0.085 36 7 2 3 1 0.036 18161 chr4 69964337 69964337 A T rs7438284 UGT2B7 Synonymous SNV P267P 0.509 0.495 0.524 196 597 190 0.503 154 159 46 38 54 0.037 18162 chr14 91780387 91780387 C T rs7160325 CCDC88C Synonymous SNV E591E 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 Benign 11.99 18163 chr16 718514 718514 C G rs7204542 RHOT2 Synonymous SNV T41T 0.73 0.742 0.728 277 857 285 0.71 214 315 105 83 96 12.69 18164 chr4 69964338 69964338 T C rs7439366 UGT2B7 Nonsynonymous SNV Y268H 0.509 0.495 0.52 196 597 190 0.503 153 159 46 38 54 drug response 4.484 18165 chr14 91948454 91948454 C T rs61757451 PPP4R3A Synonymous SNV S127S 0.012 0.005 0.007 3 14 2 0.008 2 0 0 0 0 12.13 18166 chr14 66096297 66096297 G A rs35137471 FUT8 Synonymous SNV L27L 0.028 0.031 0.024 16 33 12 0.041 7 2 0 0 0 Benign 7.846 18167 chr16 71956512 71956517 ATGCCC - rs372825060 IST1 M90_P91del 0.388 0.367 0.357 144 455 141 0.369 105 91 26 19 22 18168 chr4 7774610 7774610 C T rs2276967 AFAP1 Synonymous SNV A646A 0.101 0.096 0.061 32 119 37 0.082 18 5 3 2 1 15.69 18169 chr16 72130203 72130203 C G rs1050361 DHX38 Synonymous SNV L49L 0.461 0.427 0.456 173 541 164 0.444 134 123 31 29 31 13.23 18170 chr14 92091234 92091234 G A rs139363785 CATSPERB Synonymous SNV S620S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.34 18171 chr4 69972949 69972949 C G rs4292394 UGT2B7 Synonymous SNV L353L 0.509 0.495 0.507 196 598 190 0.503 149 159 46 38 54 drug response 2.943 18172 chr16 72130815 72130815 C A rs1050362 DHX38 Synonymous SNV R140R 0.396 0.352 0.415 152 465 135 0.39 122 91 16 24 26 20.7 18173 chr4 7780344 7780344 G A rs2269878 AFAP1-AS1 0.095 0.089 0.071 31 112 34 0.079 21 5 3 2 1 2.935 18174 chr14 92251587 92251587 A G rs61990064 TC2N Synonymous SNV L363L 0.151 0.133 0.136 58 177 51 0.149 40 14 1 3 7 4.263 18175 chr16 72134987 72134987 G A rs35586337 DHX38 Synonymous SNV P427P 0.014 0.013 0.02 7 17 5 0.018 6 1 0 0 1 Conflicting interpretations of pathogenicity 12.9 18176 chr4 69972952 69972952 C T rs4348159 UGT2B7 Synonymous SNV Y354Y 0.203 0.177 0.173 67 238 68 0.172 51 28 6 3 5 Benign 0.279 18177 chr14 92268615 92268615 T A rs2402073 TC2N Nonsynonymous SNV K151M 0.02 0.013 0 6 23 5 0.015 0 1 0 0 0 4.027 18178 chr16 72139184 72139184 C A rs2074626 DHX38 Synonymous SNV A772A 0.395 0.352 0.415 152 464 135 0.39 122 91 16 24 26 14.72 18179 chr4 7783172 7783172 G A rs77207711 AFAP1 Synonymous SNV Y571Y 0.113 0.164 0.109 52 133 63 0.133 32 4 12 3 3 0.87 18180 chr4 70355211 70355211 T C rs1845555 UGT2B4 Synonymous SNV T316T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.029 18181 chr16 72141681 72141681 A G rs34482572 DHX38 Nonsynonymous SNV I983V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 9.727 18182 chr4 7783286 7783286 G A rs10516189 AFAP1 Synonymous SNV N533N 0.1 0.096 0.105 32 117 37 0.082 31 5 3 2 1 10.76 18183 chr4 70391429 70391429 G A rs11732968 UGT2B4 Nonsynonymous SNV H7Y 0.362 0.336 0.357 120 425 129 0.308 105 77 23 24 26 9.569 18184 chr4 7857230 7857230 C T rs61742221 AFAP1 Synonymous SNV P99P 0.417 0.388 0.395 174 490 149 0.446 116 96 31 25 41 17 18185 chr15 101464915 101464915 T C rs11630691 LRRK1 Synonymous SNV R26R 0.257 0.247 0.221 80 302 95 0.205 65 44 9 11 6 3.232 18186 chr16 72156842 72156842 T G rs16973716 PMFBP1 Nonsynonymous SNV K913N 0.441 0.414 0.49 195 518 159 0.5 144 133 31 28 50 27.1 18187 chr14 68108963 68108965 ACA - rs35418251 ARG2 N84del 0.001 0.003 0.01 3 1 1 0.008 3 0 0 0 0 18188 chr4 70512773 70512773 A G rs41292307 UGT2A1 Nonsynonymous SNV L197S 0.188 0.182 0.18 73 221 70 0.187 53 10 5 3 6 23.7 18189 chr15 101514157 101514157 G C rs76356473 LRRK1 Synonymous SNV A82A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 9.426 18190 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAAA 0.038 0.039 0.003 13 45 15 0.033 1 0 2 0 1 18191 chr14 76964655 76964655 C T rs61742642 ESRRB Nonsynonymous SNV P386S 0.061 0.052 0.041 16 72 20 0.041 12 2 1 0 0 Benign/Likely benign 22.5 18192 chr16 72827758 72827758 T C rs699444 ZFHX3 Synonymous SNV G2027G 0.804 0.805 0.84 302 944 309 0.774 247 379 125 106 119 0.007 18193 chr16 72832135 72832135 T A rs740178 ZFHX3 Synonymous SNV A568A 0.772 0.753 0.81 287 906 289 0.736 238 347 110 99 110 0.322 18194 chr4 70512801 70512801 A G rs55864295 UGT2A1 Nonsynonymous SNV Y188H 0.188 0.182 0.18 74 221 70 0.19 53 10 5 3 6 1.054 18195 chr16 72984668 72984668 C T rs2228200 ZFHX3 Synonymous SNV S58S 0.066 0.06 0.061 25 77 23 0.064 18 3 0 0 0 14.16 18196 chr4 7941318 7941318 T C rs60272249 LOC389199 Synonymous SNV A142A 0.287 0.326 0.272 132 337 125 0.338 80 64 23 13 26 0.153 18197 chr16 72991660 72991660 C G rs10852515 ZFHX3 Synonymous SNV P795P 0.856 0.901 0.874 323 1005 346 0.828 257 428 156 112 132 4.072 18198 chr15 101595257 101595257 G A rs41372244 LRRK1 Synonymous SNV L1387L 0.113 0.076 0.092 48 133 29 0.123 27 3 0 0 3 8.698 18199 chr14 92922900 92922900 G A rs77671856 SLC24A4 Synonymous SNV P401P 0.301 0.286 0.303 109 353 110 0.279 89 48 17 9 14 6.905 18200 chr4 70513139 70513139 C T rs1347046 UGT2A1 Nonsynonymous SNV R75K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.073 18201 chr16 72991715 72991715 A G rs4788682 ZFHX3 Nonsynonymous SNV V777A 0.83 0.885 0.85 319 975 340 0.818 250 408 151 106 128 Benign 0.126 18202 chr4 7941346 7941346 G C rs58349148 LOC389199 Nonsynonymous SNV G152R 0.285 0.323 0.289 130 335 124 0.333 85 63 23 13 25 10.18 18203 chr15 101606261 101606261 C T rs3764739 LRRK1 Synonymous SNV T1873T 0.098 0.065 0.065 36 115 25 0.092 19 1 0 0 0 1.735 18204 chr14 94770892 94770892 C A rs767521744 SERPINA6 Nonsynonymous SNV A361S 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 5.173 18205 chr14 76232659 76232659 C T rs142427449 TTLL5 Synonymous SNV L655L 0.014 0.013 0.017 8 17 5 0.021 5 0 0 0 0 Benign 5.932 18206 chr4 70807771 70807771 C T rs10030475 CSN1S1 Nonsynonymous SNV A108V 0.337 0.289 0.361 129 396 111 0.331 106 79 21 22 28 0.005 18207 chr16 72992269 72992269 G A rs11075951 ZFHX3 Synonymous SNV D592D 0.069 0.065 0.088 25 81 25 0.064 26 2 0 1 0 0.255 18208 chr14 94772429 94772429 G A rs2228543 SERPINA6 Synonymous SNV D337D 0.176 0.135 0.163 70 207 52 0.179 48 24 3 3 6 1.461 18209 chr16 72993831 72993831 A C rs7193297 ZFHX3 Nonsynonymous SNV S72A 0.399 0.372 0.381 153 469 143 0.392 112 102 27 26 33 2.598 18210 chr4 71062308 71062308 C A rs61747755 ODAM Synonymous SNV A16A 0.178 0.167 0.136 71 209 64 0.182 40 15 5 6 7 18.23 18211 chr14 68265135 68265135 G A rs117228915 ZFYVE26 Nonsynonymous SNV S615F 0.032 0.052 0.031 24 38 20 0.062 9 1 0 1 1 Benign 23.6 18212 chr14 77493647 77493647 A G rs61991619 IRF2BPL Synonymous SNV A163A 0.214 0.206 0.133 84 251 79 0.215 39 27 8 6 8 0.607 18213 chr16 73126858 73126858 T G rs7189194 HCCAT5 0 0 0.997 0 0 0 0 293 0 0 146 0 2.613 18214 chr4 71062426 71062426 C T rs17704351 ODAM Synonymous SNV L23L 0.323 0.344 0.17 123 379 132 0.315 50 80 30 15 22 6.681 18215 chr16 74537591 74537591 C T rs4887772 GLG1 Synonymous SNV L193L 0.626 0.617 0.663 249 735 237 0.638 195 232 71 65 75 13.66 18216 chr14 77493762 77493767 TGCTGC - rs200317113 IRF2BPL Q126_Q127del 0.319 0.323 0.034 138 374 124 0.354 10 81 31 5 36 18217 chr4 71068489 71068489 T C rs3196714 ODAM Nonsynonymous SNV I222T 0.38 0.383 0.327 128 446 147 0.328 96 81 30 17 22 13.81 18218 chr16 74664743 74664743 T C rs7193541 RFWD3 Nonsynonymous SNV I286V 0.44 0.414 0.432 179 516 159 0.459 127 108 31 25 40 7.084 18219 chr14 69341658 69341658 G A rs77499007 ACTN1 Nonsynonymous SNV P866L 0.02 0.021 0.024 9 24 8 0.023 7 0 0 0 0 25 18220 chr4 71201388 71201388 C T rs1351419 CABS1 Nonsynonymous SNV T211I 0.967 0.971 0.973 371 1135 373 0.951 286 548 181 139 177 0.28 18221 chr15 101718239 101718239 C G rs62621400 CHSY1 Nonsynonymous SNV R588T 0.088 0.089 0.088 41 103 34 0.105 26 2 1 2 1 15.1 18222 chr16 74664810 74664810 A T rs7188880 RFWD3 Synonymous SNV P263P 0.549 0.542 0.588 216 645 208 0.554 173 175 59 49 57 0.887 18223 chr14 93172903 93172903 C T rs143184687 LGMN Synonymous SNV P372P 0.017 0.018 0.017 9 20 7 0.023 5 0 0 0 0 11.78 18224 chr16 74670458 74670458 C T rs4888262 RFWD3 Synonymous SNV T126T 0.538 0.531 0.588 211 632 204 0.541 173 177 59 49 57 13.63 18225 chr4 71232430 71232430 T C rs10024123 SMR3A Nonsynonymous SNV C42R 0.94 0.951 0.973 371 1103 365 0.951 286 517 173 139 176 0.054 18226 chr16 74695079 74695079 G T rs8058922 RFWD3 Nonsynonymous SNV T90N 0.676 0.648 0.707 263 794 249 0.674 208 277 81 72 84 0.001 18227 chr15 102192502 102192502 G A rs1127963 TM2D3 Synonymous SNV L21L 0.053 0.073 0.054 23 62 28 0.059 16 3 0 1 1 9.442 18228 chr16 74750396 74750396 T C rs11554621 FA2H Synonymous SNV V296V 0.187 0.159 0.146 57 220 61 0.146 43 16 5 3 2 Benign 3.23 18229 chr4 71232701 71232701 C T rs6853742 SMR3A Nonsynonymous SNV P132L 0.665 0.656 0.67 243 781 252 0.623 197 261 83 67 75 7.869 18230 chr16 74750405 74750405 G A rs2301865 FA2H Synonymous SNV P293P 0.842 0.839 0.837 319 988 322 0.818 246 414 134 102 130 Benign 9.766 18231 chr14 93673655 93673655 G A rs2286653 UBR7 Nonsynonymous SNV A7T 0.095 0.112 0.02 40 111 43 0.103 6 9 1 0 3 0.002 18232 chr16 75200745 75200745 C T ZFP1 Synonymous SNV I31I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 18233 chr4 71396989 71396989 C T rs17676820 AMTN Synonymous SNV I196I 0.399 0.359 0.35 131 468 138 0.336 103 86 22 13 15 11.15 18234 chr16 75238103 75238103 C T rs4737 CTRB2 Nonsynonymous SNV A250T 0.842 0.854 0.854 336 989 328 0.862 251 416 137 108 142 12.48 18235 chr15 22840279 22840279 G T rs61744212 TUBGCP5 Synonymous SNV L115L 0.085 0.109 0.075 31 100 42 0.079 22 2 2 1 0 12.78 18236 chr14 93799221 93799221 G A rs2273640 BTBD7 Synonymous SNV G18G 0.175 0.143 0.129 60 206 55 0.154 38 20 2 4 7 9.238 18237 chr4 71509086 71509086 T C rs7671281 ENAM Nonsynonymous SNV I430T 0.067 0.06 0.044 26 79 23 0.067 13 1 0 0 1 Benign 0.003 18238 chr16 75258617 75258617 C T rs2287990 CTRB1 Nonsynonymous SNV P171S 0.091 0.089 0.061 34 107 34 0.087 18 5 0 1 2 12.78 18239 chr16 75263661 75263661 G A rs7190458 BCAR1 Synonymous SNV L577L 0.028 0.026 0.031 10 33 10 0.026 9 0 0 0 0 1.532 18240 chr4 71509431 71509431 G A rs3796704 ENAM Nonsynonymous SNV R545Q 0.066 0.057 0.044 26 78 22 0.067 13 1 0 0 1 Benign 10.03 18241 chr14 94088266 94088266 G A rs78490074 UNC79 Nonsynonymous SNV E1386K 0.022 0.013 0.01 0 26 5 0 3 0 0 0 0 9.315 18242 chr14 77493764 77493764 C - rs770946734 IRF2BPL Q124Hfs*28 0.003 0 0 0 3 0 0 0 0 0 0 0 18243 chr16 75269003 75269003 G A rs11545087 BCAR1 Synonymous SNV H388H 0.075 0.063 0.088 24 88 24 0.062 26 5 1 1 0 3.44 18244 chr15 22990135 22990135 C G CYFIP1 Nonsynonymous SNV R488G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.9 18245 chr14 77493766 77493770 GCTGC - rs760740524 IRF2BPL Q123Afs*8 0.003 0 0 0 3 0 0 0 0 0 0 0 18246 chr14 94936107 94936107 G A rs4905204 SERPINA9 Nonsynonymous SNV A24V 0.061 0.094 0.071 31 72 36 0.079 21 1 5 0 1 0.003 18247 chr16 75269267 75269267 A G rs3169330 BCAR1 Synonymous SNV A300A 0.857 0.875 0.857 338 1006 336 0.867 252 429 146 109 143 0.002 18248 chr4 71705262 71705262 A G rs6813092 GRSF1 Nonsynonymous SNV S95P 0.98 0.964 0.799 383 1150 370 0.982 235 575 185 117 191 0.085 18249 chr4 8375342 8375342 G A rs2280571 ACOX3 Synonymous SNV S614S 0.15 0.188 0.143 60 176 72 0.154 42 16 8 3 1 Benign 6.79 18250 chr16 75269325 75269325 C T rs16957558 BCAR1 Nonsynonymous SNV R281H 0.07 0.057 0.085 22 82 22 0.056 25 5 1 1 0 21.8 18251 chr15 23006707 23006707 C A rs3812922 NIPA2 Synonymous SNV L180L 0.033 0.031 0.054 12 39 12 0.031 16 1 0 0 0 9.085 18252 chr4 8454639 8454639 A G rs1880024 TRMT44 Nonsynonymous SNV R111G 0.697 0.698 0.629 293 818 268 0.751 185 291 95 56 105 4.98 18253 chr14 94936110 94936110 G A rs45438398 SERPINA9 Nonsynonymous SNV P23L 0.164 0.151 0.136 62 192 58 0.159 40 19 4 4 5 18.85 18254 chr14 73727926 73727926 G C rs2242616 PAPLN Nonsynonymous SNV Q723H 0.009 0.01 0.014 0 11 4 0 4 0 0 0 0 23.9 18255 chr4 72425863 72425863 C T rs1453458 SLC4A4 Synonymous SNV H953H 0.909 0.893 0.918 359 1067 343 0.921 270 488 156 125 166 14.6 18256 chr14 77708804 77708804 C T rs61731611 TMEM63C Synonymous SNV D393D 0.305 0.247 0.262 88 358 95 0.226 77 47 10 8 10 13.55 18257 chr16 75269534 75269534 C T rs3743613 BCAR1 Synonymous SNV P211P 0.303 0.344 0.269 101 356 132 0.259 79 54 22 10 14 10.05 18258 chr4 72618296 72618296 T C rs9016 GC Nonsynonymous SNV H445R 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.001 18259 chr16 75301838 75301838 G C rs148519476 BCAR1 Nonsynonymous SNV P14R 0.066 0.049 0.068 22 77 19 0.056 20 5 1 1 0 12.16 18260 chr14 95033356 95033356 C T rs5510 SERPINA4 Synonymous SNV F270F 0.272 0.292 0.241 104 319 112 0.267 71 41 18 8 10 8.126 18261 chr16 75327916 75327916 A G rs6624 CFDP1 Synonymous SNV L278L 0.869 0.859 0.884 341 1020 330 0.874 260 451 142 116 148 8.784 18262 chr4 72618323 72618323 G T rs4588 GC Nonsynonymous SNV T436K 0.315 0.31 0.269 131 370 119 0.336 79 55 18 8 24 Benign 1.682 18263 chr16 76532583 76532583 A G rs12933808 CNTNAP4 Nonsynonymous SNV Q657R 0.934 0.935 0.925 363 1096 359 0.931 272 511 168 125 170 3.602 18264 chr15 24921115 24921115 C A rs35022251 NPAP1 Nonsynonymous SNV P34Q 0.036 0.036 0.065 17 42 14 0.044 19 0 0 1 1 0.007 18265 chr14 73989608 73989608 C G rs149611197 HEATR4 Synonymous SNV L83L 0.015 0.01 0.031 4 18 4 0.01 9 0 0 1 0 8.332 18266 chr14 74060508 74060508 C A rs35724886 ACOT4 Nonsynonymous SNV A187D 0.148 0.161 0.095 53 174 62 0.136 28 13 7 1 5 34 18267 chr4 72618334 72618334 A C rs7041 GC Nonsynonymous SNV D432E 0.518 0.521 0.537 173 608 200 0.444 158 153 59 45 35 Benign 0.002 18268 chr16 76587202 76587202 T G rs7202925 CNTNAP4 Nonsynonymous SNV D1026E 0.207 0.203 0.194 75 243 78 0.192 57 25 10 3 8 8.874 18269 chr4 8588787 8588787 G A rs61746124 GPR78 Synonymous SNV A263A 0.019 0.031 0.02 14 22 12 0.036 6 0 0 0 0 9.359 18270 chr15 24922208 24922208 C G rs12905237 NPAP1 Synonymous SNV A398A 0.158 0.164 0.17 61 185 63 0.156 50 15 4 4 5 8.437 18271 chr14 74060511 74060511 - TCAA rs373880503 ACOT4 Frameshift insertion A189Qfs*5 0.148 0.164 0.095 54 174 63 0.138 28 13 7 1 5 18272 chr14 71444338 71444338 G A rs34646737 PCNX1 Synonymous SNV G428G 0.01 0.008 0.017 6 12 3 0.015 5 1 0 0 0 0.008 18273 chr4 8588986 8588986 G A rs11941659 GPR78 Nonsynonymous SNV A330T 0.019 0.031 0.02 14 22 12 0.036 6 0 0 0 0 10.69 18274 chr15 24922230 24922230 C G rs3742950 NPAP1 Nonsynonymous SNV Q406E 0.358 0.339 0.391 128 420 130 0.328 115 77 27 21 23 0.006 18275 chr14 95080803 95080803 G A rs4934 SERPINA3 Nonsynonymous SNV A9T 0.486 0.469 0.456 174 570 180 0.446 134 147 39 30 37 Benign 8.933 18276 chr16 76587331 76587331 T C rs7184958 CNTNAP4 Synonymous SNV T1069T 0.208 0.206 0.19 75 244 79 0.192 56 26 10 3 8 0.095 18277 chr14 74060514 74060517 CTTA - rs375801976 ACOT4 A189Vfs*32 0.148 0.164 0.095 53 174 63 0.136 28 13 7 1 5 18278 chr4 73414286 73414286 C T rs788908 ADAMTS3 Nonsynonymous SNV R138K 0.661 0.661 0.646 235 776 254 0.603 190 257 85 56 70 14.89 18279 chr14 95029852 95029852 G T rs5508 SERPINA4 Synonymous SNV L48L 0.154 0.156 0.177 55 181 60 0.141 52 10 4 3 1 1.127 18280 chr16 76902847 76902847 T C rs7500280 MIR4719 0 0 0.673 0 0 0 0 198 0 0 66 0 2.566 18281 chr16 76902850 76902850 G A rs7499278 MIR4719 0 0 0.799 0 0 0 0 235 0 0 92 0 2.36 18282 chr15 24923390 24923390 C T rs60574723 NPAP1 Synonymous SNV F792F 0.353 0.333 0.374 127 415 128 0.326 110 76 25 19 23 6.83 18283 chr14 74083782 74083782 T - ACOT6 F183Lfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 18284 chr4 73991006 73991006 T C rs6822576 ANKRD17 Synonymous SNV A835A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.449 18285 chr16 77228629 77228629 A G rs2232503 MON1B Synonymous SNV R145R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.308 18286 chr16 77228866 77228866 T C rs2232504 MON1B Synonymous SNV V224V 0.632 0.646 0.694 236 742 248 0.605 204 236 78 67 69 1.008 18287 chr14 72205824 72205824 G C rs142265143 SIPA1L1 Synonymous SNV S1765S 0.004 0.013 0.003 1 5 5 0.003 1 0 0 0 0 8.812 18288 chr4 74017201 74017201 C T rs35591466 ANKRD17 Synonymous SNV A312A 0.026 0.021 0.017 9 30 8 0.023 5 0 0 0 1 18.57 18289 chr16 77228971 77228971 C T rs2232506 MON1B Synonymous SNV V259V 0.101 0.076 0.085 36 118 29 0.092 25 3 0 0 1 13.62 18290 chr4 74308089 74308089 A C rs35765619 AFP Nonsynonymous SNV K187Q 0.04 0.068 0.031 13 47 26 0.033 9 0 1 0 0 22.8 18291 chr16 77233394 77233394 A G rs4888607 SYCE1L Nonsynonymous SNV T16A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 18292 chr4 8594616 8594616 G C rs79736750 CPZ Nonsynonymous SNV R19P 0.152 0.141 0.119 58 179 54 0.149 35 14 2 1 1 11.14 18293 chr14 74489735 74489735 G A rs3784039 BBOF1 Nonsynonymous SNV R58Q 0.193 0.169 0.18 65 226 65 0.167 53 20 4 6 8 22.6 18294 chr14 94430878 94430878 G A rs11621009 ASB2 Nonsynonymous SNV T3M 0.019 0.018 0.02 8 22 7 0.021 6 0 0 0 0 18.73 18295 chr16 77246517 77246517 C A rs62049594 SYCE1L Nonsynonymous SNV P169T 0.235 0.214 0.276 104 276 82 0.267 81 75 20 10 28 10.19 18296 chr4 74318330 74318330 A G rs4235117 AFP Synonymous SNV T547T 0.998 0.997 0.993 389 1172 383 0.997 292 585 191 145 194 0.032 18297 chr15 25953442 25953442 C T rs2066704 ATP10A Nonsynonymous SNV A784T 0.106 0.094 0.122 41 124 36 0.105 36 5 2 3 2 17.7 18298 chr4 74361142 74361142 G A rs41265665 AFM Nonsynonymous SNV R395H 0.048 0.081 0.044 15 56 31 0.038 13 1 1 0 0 14.02 18299 chr16 77246795 77246795 C G rs2278049 SYCE1L Synonymous SNV P191P 0.691 0.628 0.619 266 811 241 0.682 182 278 74 57 91 13.3 18300 chr16 77323235 77323235 C G rs3743749 ADAMTS18 Nonsynonymous SNV S987T 0.161 0.18 0.204 57 189 69 0.146 60 11 9 5 3 19.58 18301 chr4 74451073 74451073 A G rs12507775 RASSF6 Nonsynonymous SNV S119P 0.374 0.346 0.299 131 439 133 0.336 88 88 29 12 23 15.28 18302 chr14 74516497 74516497 G A rs34076068 BBOF1 Synonymous SNV L295L 0.105 0.112 0.095 33 123 43 0.085 28 13 3 1 3 13.75 18303 chr15 25962058 25962058 G A rs2066703 ATP10A Nonsynonymous SNV T532M 0.092 0.081 0.095 35 108 31 0.09 28 4 1 2 2 25.8 18304 chr4 8603117 8603117 A T rs35993494 CPZ Nonsynonymous SNV Q119L 0.164 0.117 0.126 49 193 45 0.126 37 19 2 1 0 0.098 18305 chr16 77325325 77325325 G T rs35478105 ADAMTS18 Nonsynonymous SNV S908R 0.487 0.466 0.384 189 572 179 0.485 113 136 37 22 43 23.2 18306 chr4 74847185 74847185 G T rs367951530 PF4 Nonsynonymous SNV T65N 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 1.011 18307 chr16 77389956 77389956 A G rs8059275 ADAMTS18 Synonymous SNV D275D 0.876 0.852 0.878 345 1028 327 0.885 258 446 138 113 152 0.082 18308 chr14 94844843 94844843 T G rs1303 SERPINA1 Nonsynonymous SNV E400D 0.295 0.289 0.344 117 346 111 0.3 101 46 17 14 16 Benign 0.001 18309 chr4 74863997 74863997 T C rs425535 CXCL5 Synonymous SNV Q56Q 0.907 0.904 0.884 350 1065 347 0.897 260 485 159 113 155 0.098 18310 chr4 8613786 8613786 C T rs2302574 CPZ Synonymous SNV D409D 0.01 0.016 0.02 7 12 6 0.018 6 0 0 0 0 7.482 18311 chr16 77401545 77401545 A G rs11643211 ADAMTS18 Nonsynonymous SNV Y191H 0.3 0.328 0.228 119 352 126 0.305 67 59 18 10 19 Benign 19.87 18312 chr4 75248434 75248434 A G rs2367707 EREG Synonymous SNV E117E 0.725 0.719 0.82 293 851 276 0.751 241 300 98 102 110 8.034 18313 chr4 8613867 8613867 G A rs2302573 CPZ Synonymous SNV A436A 0.01 0.016 0.02 7 12 6 0.018 6 0 0 0 0 15.83 18314 chr4 75675841 75675841 A T rs11938093 BTC Nonsynonymous SNV L124M 0.304 0.273 0.279 118 357 105 0.303 82 57 18 12 13 24.4 18315 chr16 77769369 77769369 C T rs308926 NUDT7 Nonsynonymous SNV R90C 0.961 0.977 0.905 374 1128 375 0.959 266 552 185 130 183 7.401 18316 chr15 28090173 28090173 C T rs12592307 OCA2 Synonymous SNV S764S 0.243 0.273 0.293 126 285 105 0.323 86 36 13 16 18 Benign 13.76 18317 chr16 78011559 78011559 C T rs3751769 VAT1L Synonymous SNV S409S 0.087 0.091 0.112 25 102 35 0.064 33 7 3 1 2 17.62 18318 chr16 78064351 78064351 C G rs2293776 CLEC3A Synonymous SNV L69L 0.241 0.268 0.262 120 283 103 0.308 77 37 16 10 21 11.33 18319 chr14 96783016 96783016 T C ATG2B Nonsynonymous SNV D1072G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.3 18320 chr4 75719517 75719517 A C rs28549760 BTC Nonsynonymous SNV C7G 0.22 0.188 0.231 103 258 72 0.264 68 39 4 11 15 0.02 18321 chr16 78420775 78420775 G A rs11545029 WWOX Nonsynonymous SNV A66T 0.567 0.586 0.602 244 666 225 0.626 177 190 68 57 77 Benign 22.3 18322 chr14 74823549 74823549 C T rs2232031 VRTN Synonymous SNV C21C 0.039 0.026 0.044 18 46 10 0.046 13 0 0 1 0 10.76 18323 chr4 76793228 76793228 A G rs1394916 PPEF2 Synonymous SNV I533I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.192 18324 chr16 80583497 80583497 C T rs11866734 DYNLRB2 Synonymous SNV L95L 0.276 0.315 0.272 111 324 121 0.285 80 45 21 8 18 Benign 10.95 18325 chr4 76794345 76794345 T G rs6858658 PPEF2 Nonsynonymous SNV M481L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.095 18326 chr16 80718879 80718879 A G rs8049284 CDYL2 Synonymous SNV L58L 0.717 0.714 0.741 280 842 274 0.718 218 304 101 84 99 12.22 18327 chr14 78234796 78234796 C T rs8015313 C14orf178 0.159 0.115 0 54 187 44 0.138 0 32 8 0 5 0.01 18328 chr14 74824956 74824956 C A rs45500395 VRTN Nonsynonymous SNV D490E 0.017 0.018 0.02 5 20 7 0.013 6 0 0 0 0 Benign 0.001 18329 chr16 81050965 81050965 A T rs935939 CENPN Nonsynonymous SNV E84D 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 12.1 18330 chr4 76809386 76809386 A G rs7691755 PPEF2 Synonymous SNV S171S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.444 18331 chr16 81061827 81061827 G A rs2549887 CENPN Nonsynonymous SNV E268K 0.831 0.846 0.823 331 976 325 0.849 242 410 139 101 140 8.845 18332 chr4 76836137 76836137 A G rs6823734 NAAA Nonsynonymous SNV F334L 0.595 0.599 0.69 244 699 230 0.626 203 204 67 65 80 0.15 18333 chr14 74999143 74999143 C T rs755597541 LTBP2 Nonsynonymous SNV R658Q 0.005 0 0 2 6 0 0.005 0 0 0 0 0 34 18334 chr16 81095091 81095091 A G rs7198494 C16orf46 Nonsynonymous SNV I288T 0.244 0.255 0.18 101 287 98 0.259 53 27 9 4 11 0.005 18335 chr14 81562998 81562998 T C rs2075179 TSHR Synonymous SNV N187N 0.133 0.125 0.122 50 156 48 0.128 36 18 0 1 1 Benign 5.456 18336 chr4 76861285 76861285 G A rs192282293 NAAA Synonymous SNV I80I 0.003 0.008 0.007 5 4 3 0.013 2 0 0 0 0 Likely benign 9.981 18337 chr16 81095363 81095363 C T rs804885 C16orf46 Synonymous SNV L197L 0.928 0.922 0.898 365 1089 354 0.936 264 505 164 120 171 7.181 18338 chr16 81129822 81129822 G A rs8052579 GCSH Nonsynonymous SNV S21L 0.654 0.617 0.52 269 768 237 0.69 153 256 77 66 96 8.447 18339 chr4 76955914 76955914 T C rs6532111 CXCL11 Nonsynonymous SNV S105G 0.55 0.578 0.449 203 646 222 0.521 132 188 66 44 51 14.21 18340 chr4 77053834 77053834 T C rs61750814 NUP54 Nonsynonymous SNV N202S 0.214 0.245 0.221 79 251 94 0.203 65 22 10 9 9 11.48 18341 chr14 99642360 99642360 C G rs1152783 BCL11B Synonymous SNV P199P 0.216 0.206 0.187 68 253 79 0.174 55 37 11 3 5 0.754 18342 chr16 81209234 81209234 C T rs935933 PKD1L2 Synonymous SNV T168T 0.139 0.12 0.139 64 163 46 0.164 41 9 4 2 8 13.47 18343 chr16 81213378 81213378 A G rs4889261 PKD1L2 Nonsynonymous SNV L26P 0.824 0.797 0.813 314 967 306 0.805 239 399 117 97 126 13.35 18344 chr4 77055474 77055474 A G rs11097244 NUP54 Synonymous SNV D140D 0.14 0.151 0.177 69 164 58 0.177 52 15 8 7 5 7.275 18345 chr4 77057501 77057501 A G rs11558468 NUP54 Synonymous SNV T72T 0.139 0.154 0.18 70 163 59 0.179 53 15 8 7 5 8.625 18346 chr16 81219131 81219131 C G rs201060208 PKD1L2 Nonsynonymous SNV V655L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.15 18347 chr15 31197564 31197564 G A rs4779794 FAN1 Nonsynonymous SNV G233E 0.443 0.466 0.442 141 520 179 0.362 130 112 36 32 26 Benign 0.003 18348 chr4 77065318 77065318 - TGT rs36024409 NUP54 Q97_T98insQ 0.141 0.154 0.17 69 166 59 0.177 50 15 8 7 5 18349 chr4 77065580 77065580 T C rs11558469 NUP54 Synonymous SNV A38A 0.112 0.135 0.18 58 131 52 0.149 53 15 9 7 5 8.912 18350 chr16 81232275 81232275 G A rs7205673 PKD1L2 Nonsynonymous SNV P512L 0.783 0.773 0.782 299 919 297 0.767 230 357 110 92 114 23.8 18351 chr15 31229420 31229420 T C rs2955795 FAN1 Synonymous SNV H1005H 0.434 0.461 0.469 143 510 177 0.367 138 117 37 34 29 Benign 0.24 18352 chr4 77100807 77100807 T C rs143655258 SCARB2 Nonsynonymous SNV M159V 0.018 0.021 0.017 12 21 8 0.031 5 0 0 0 0 Benign 0.078 18353 chr14 95085710 95085710 A C rs112967031 SERPINA3 Synonymous SNV A274A 0.013 0.016 0.003 9 15 6 0.023 1 0 0 0 0 Benign 0.003 18354 chr15 31246972 31246972 C T rs142149917 MTMR10 Nonsynonymous SNV V354I 0.014 0.008 0.01 4 16 3 0.01 3 0 0 0 0 19.63 18355 chr16 81232564 81232564 T G rs7194871 PKD1L2 Nonsynonymous SNV K416Q 0.79 0.781 0.786 309 927 300 0.792 231 363 112 93 122 0.003 18356 chr4 77192838 77192838 A C rs3733251 FAM47E, FAM47E-STBD1 Nonsynonymous SNV K263Q 0.196 0.203 0.136 71 230 78 0.182 40 21 11 4 6 18.19 18357 chr15 31267147 31267147 C T rs1133642 MTMR10 Synonymous SNV E106E 0.444 0.477 0.466 147 521 183 0.377 137 117 39 33 31 13 18358 chr16 81241098 81241098 C T rs11150369 PKD1L2 Synonymous SNV P301P 0.793 0.786 0.793 304 931 302 0.779 233 376 116 93 118 9.84 18359 chr4 10599670 10599670 G T rs75741253 CLNK Synonymous SNV G5G 0.012 0.013 0.017 10 14 5 0.026 5 0 0 0 0 1.839 18360 chr4 77192868 77192868 G A rs3733250 FAM47E, FAM47E-STBD1 Nonsynonymous SNV E273K 0.399 0.406 0.452 167 469 156 0.428 133 90 31 28 36 11.38 18361 chr16 81241100 81241100 G C rs11150370 PKD1L2 Nonsynonymous SNV P301A 0.316 0.326 0.296 108 371 125 0.277 87 61 25 12 14 23.4 18362 chr4 13545688 13545688 G C rs145908097 NKX3-2 Synonymous SNV G117G 0.027 0.016 0.031 13 32 6 0.033 9 1 0 0 0 Benign 8.808 18363 chr14 95909522 95909522 G A rs138486495 SYNE3 Synonymous SNV S627S 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 12.33 18364 chr4 13545792 13545792 G T rs9684692 NKX3-2 Synonymous SNV R83R 0.621 0.596 0.622 249 729 229 0.638 183 231 62 58 74 Benign 9.53 18365 chr16 81242194 81242194 T C rs6564838 PKD1L2 Nonsynonymous SNV E221G 0.791 0.781 0.796 304 929 300 0.779 234 374 114 94 118 9.77 18366 chr4 77201487 77201487 C T rs1036788 FAM47E Nonsynonymous SNV T366M 0.808 0.826 0.786 314 949 317 0.805 231 382 130 91 128 13.82 18367 chr15 31342744 31342744 C T rs1035705 TRPM1 Synonymous SNV T452T 0.509 0.599 0.282 213 598 230 0.546 83 155 68 34 60 Benign 9.865 18368 chr16 81242198 81242198 G A rs7499011 PKD1L2 Stop gain Q220X 0.456 0.435 0.483 187 535 167 0.479 142 134 26 35 46 37 18369 chr4 77660162 77660162 G C rs344140 SHROOM3 Nonsynonymous SNV G279A 0.741 0.763 0.731 299 870 293 0.767 215 325 112 76 114 Benign 0.001 18370 chr15 100821496 100821496 C T rs551851234 ADAMTS17 Nonsynonymous SNV D243N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 22.3 18371 chr16 81249927 81249927 C T rs7185774 PKD1L2 Nonsynonymous SNV G129D 0.445 0.406 0.473 185 522 156 0.474 139 125 21 32 45 25.6 18372 chr14 75019002 75019002 C T rs61738025 LTBP2 Synonymous SNV L429L 0.073 0.081 0.054 52 86 31 0.133 16 2 1 0 3 Benign 19.71 18373 chr14 75022271 75022271 G T rs2304707 LTBP2 Nonsynonymous SNV P319Q 0.074 0.078 0.054 52 87 30 0.133 16 2 1 0 4 Benign 0.22 18374 chr4 77660299 77660299 T G rs61999292 SHROOM3 Nonsynonymous SNV S325A 0.095 0.099 0.109 53 112 38 0.136 32 5 2 4 4 Benign 11.15 18375 chr16 81249954 81249954 T A rs7191351 PKD1L2 Nonsynonymous SNV Q120L 0.684 0.646 0.677 250 803 248 0.641 199 280 74 69 79 16.3 18376 chr16 81253759 81253759 A G rs9924371 PKD1L2 Nonsynonymous SNV W73R 0.692 0.654 0.67 252 812 251 0.646 197 286 77 68 80 0.004 18377 chr4 77660731 77660731 C G rs344141 SHROOM3 Nonsynonymous SNV P469A 0.645 0.648 0.592 265 757 249 0.679 174 244 80 47 89 Benign 2.881 18378 chr14 89061298 89061298 G A rs78648645 ZC3H14 Synonymous SNV K76K 0.028 0.036 0.034 12 33 14 0.031 10 0 0 0 1 18.06 18379 chr15 101112208 101112208 G A rs141962847 LINS1 Synonymous SNV L429L 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 Benign/Likely benign 11.31 18380 chr16 81253917 81253917 A G rs9924530 PKD1L2 Nonsynonymous SNV V20A 0.692 0.654 0.67 252 812 251 0.646 197 286 77 68 80 0.002 18381 chr14 75352322 75352322 A G rs981845288 DLST Nonsynonymous SNV N44S 0 0.008 0 0 0 3 0 0 0 0 0 0 10.67 18382 chr4 77662248 77662248 G A rs344142 SHROOM3 Synonymous SNV S974S 0.638 0.638 0.588 264 749 245 0.677 173 238 76 47 88 Benign 6.99 18383 chr4 15004655 15004655 G A rs7435318 CPEB2 Nonsynonymous SNV D120N 0.617 0.586 0.656 225 724 225 0.577 193 223 71 66 66 12.69 18384 chr15 33357262 33357262 A G rs2306277 FMN1 Nonsynonymous SNV L463P 0.616 0.549 0.548 218 723 211 0.559 161 225 56 39 56 10.51 18385 chr14 90398907 90398907 G A rs8778 EFCAB11 Synonymous SNV N94N 0.127 0.133 0.139 42 149 51 0.108 41 9 1 1 0 7.671 18386 chr16 81279120 81279120 T C rs28370522 BCO1 Synonymous SNV N35N 0.329 0.299 0.306 119 386 115 0.305 90 56 15 11 23 0.085 18387 chr4 77662309 77662309 C T rs344143 SHROOM3 Synonymous SNV L995L 0.464 0.448 0.422 212 545 172 0.544 124 132 34 25 53 Benign 3.336 18388 chr15 33359370 33359370 C T rs11072170 FMN1 Nonsynonymous SNV G239E 0.336 0.32 0.31 120 394 123 0.308 91 59 24 10 15 0.93 18389 chr4 15005604 15005604 G A rs112476821 CPEB2 Nonsynonymous SNV S436N 0.476 0.484 0.514 181 559 186 0.464 151 132 50 42 42 0.077 18390 chr4 77817362 77817362 T C rs2703131 SOWAHB Synonymous SNV L547L 0.223 0.211 0.207 83 262 81 0.213 61 30 12 6 14 0.139 18391 chr15 101455009 101455009 G C rs4646690 LOC101927751 0.068 0.052 0.054 22 80 20 0.056 16 3 0 0 1 4.319 18392 chr14 90752754 90752754 G A rs116980182 NRDE2 Nonsynonymous SNV R1081C 0.039 0.031 0.027 13 46 12 0.033 8 0 1 0 1 24 18393 chr16 81301694 81301694 A T rs12934922 BCO1 Nonsynonymous SNV R267S 0.443 0.438 0.466 169 520 168 0.433 137 128 32 35 31 17.87 18394 chr4 77817874 77817874 G T rs2703130 SOWAHB Nonsynonymous SNV P377T 0.125 0.128 0.105 46 147 49 0.118 31 9 4 2 4 15.06 18395 chr15 33359574 33359574 C A rs11858145 FMN1 Nonsynonymous SNV G171V 0.705 0.646 0.65 242 828 248 0.621 191 294 82 58 72 0.491 18396 chr4 15640168 15640168 C T rs3182730 FBXL5 Synonymous SNV K182K 0.139 0.107 0.105 50 163 41 0.128 31 5 3 1 3 13.83 18397 chr16 81398635 81398635 C T rs2608555 GAN Synonymous SNV Y431Y 0.272 0.273 0.245 93 319 105 0.238 72 46 14 14 10 Benign 9.961 18398 chr14 88452945 88452945 G A rs11552556 GALC Synonymous SNV D87D 0.063 0.049 0.037 27 74 19 0.069 11 3 0 0 2 Benign/Likely benign 9.785 18399 chr16 81567554 81567554 A G rs2925980 MIR7854 0 0 0.333 0 0 0 0 98 0 0 16 0 3.445 18400 chr4 15689632 15689632 G A rs11729955 FAM200B Synonymous SNV E344E 0.353 0.336 0.344 131 414 129 0.336 101 68 22 17 17 3.23 18401 chr4 77818202 77818202 T C rs2645674 SOWAHB Synonymous SNV T267T 0.325 0.305 0.31 123 381 117 0.315 91 67 24 13 24 1.81 18402 chr15 33381000 33381000 A T rs2291065 FMN1 Nonsynonymous SNV H681Q 0.345 0.339 0.313 124 405 130 0.318 92 65 27 10 16 8.934 18403 chr14 90759063 90759065 TCT - NRDE2 E606del 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 18404 chr14 77272992 77272992 C G rs45499197 ANGEL1 Nonsynonymous SNV V383L 0.025 0.021 0.044 4 29 8 0.01 13 2 1 0 0 14.4 18405 chr16 81644970 81644970 T C rs74469188 MIR6504 0 0 0.173 0 0 0 0 51 0 0 5 0 2.582 18406 chr16 81819768 81819768 T C rs1143685 PLCG2 Synonymous SNV A58A 0.712 0.674 0.667 272 836 259 0.697 196 299 91 65 92 Benign 8.686 18407 chr4 77818548 77818548 T C rs2703129 SOWAHB Nonsynonymous SNV D152G 0.325 0.305 0.286 119 381 117 0.305 84 67 24 13 24 4.094 18408 chr15 33446258 33446258 G A rs28377066 FMN1 Synonymous SNV S286S 0.451 0.438 0.473 179 530 168 0.459 139 116 37 38 35 6.706 18409 chr15 101598200 101598200 G A rs11857803 LRRK1 Synonymous SNV P1511P 0.4 0.458 0.452 171 470 176 0.438 133 84 35 31 34 14.3 18410 chr16 818482 818482 G A rs145273478 MSLN Nonsynonymous SNV R575Q 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 6.882 18411 chr15 33446311 33446311 G C rs28507600 FMN1 Nonsynonymous SNV P269A 0.453 0.438 0.476 180 532 168 0.462 140 116 37 37 36 0.002 18412 chr15 101598314 101598314 C T rs11853661 LRRK1 Synonymous SNV T1549T 0.385 0.438 0.432 165 452 168 0.423 127 78 32 28 30 13.28 18413 chr4 78987157 78987157 A G rs4859905 FRAS1 Nonsynonymous SNV D32G 0.43 0.44 0.425 158 505 169 0.405 125 105 37 29 31 Benign 14.83 18414 chr16 81888152 81888152 A G rs1143686 PLCG2 Synonymous SNV L99L 0.282 0.273 0.296 109 331 105 0.279 87 59 17 12 16 Benign 2.075 18415 chr16 81902879 81902879 C G rs150276286 PLCG2 Synonymous SNV A180A 0.009 0.016 0.014 4 11 6 0.01 4 0 0 0 0 Benign 14.18 18416 chr14 77493648 77493650 GCG - rs371633333 IRF2BPL A164del 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 18417 chr4 79188076 79188076 T G rs148509395 FRAS1 Nonsynonymous SNV L259R 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 Benign/Likely benign 22.4 18418 chr16 81929488 81929488 C T rs1143688 PLCG2 Synonymous SNV D383D 0.321 0.37 0.33 121 377 142 0.31 97 61 23 15 19 Benign 11.24 18419 chr16 81941319 81941319 C T rs1143689 PLCG2 Synonymous SNV A499A 0.807 0.823 0.81 300 947 316 0.769 238 387 128 97 114 Benign 12.96 18420 chr4 16020162 16020162 C T rs2286455 PROM1 Synonymous SNV A253A 0.162 0.159 0.139 47 190 61 0.121 41 19 6 1 2 Benign 0.956 18421 chr16 82203742 82203742 T C rs1134847 MPHOSPH6 Synonymous SNV L13L 0.686 0.727 0.67 287 805 279 0.736 197 270 101 66 103 10.38 18422 chr4 79238649 79238649 T C rs345514 FRAS1 Synonymous SNV H649H 0.674 0.656 0.738 265 791 252 0.679 217 258 76 77 95 Benign 0.032 18423 chr16 82203758 82203758 C T rs2303262 MPHOSPH6 Nonsynonymous SNV R8K 0.746 0.792 0.748 310 876 304 0.795 220 327 122 85 121 11.14 18424 chr14 97299853 97299853 A G rs2145635 VRK1 Synonymous SNV A15A 0.374 0.349 0.378 170 439 134 0.436 111 74 24 18 31 Benign 8.091 18425 chr14 77493815 77493815 T C rs7156498 IRF2BPL Synonymous SNV Q107Q 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.001 18426 chr4 79284694 79284694 C T rs6835769 FRAS1 Nonsynonymous SNV A817V 0.512 0.43 0.507 193 601 165 0.495 149 154 33 33 51 Benign 2.178 18427 chr16 82203768 82203768 G T rs2303261 MPHOSPH6 Synonymous SNV R5R 0.685 0.727 0.667 287 804 279 0.736 196 269 101 65 103 9.862 18428 chr4 17524570 17524570 C G rs13147559 CLRN2 Nonsynonymous SNV L113V 0.111 0.12 0.082 36 130 46 0.092 24 5 3 2 0 23.6 18429 chr14 91700614 91700614 C T rs763739367 GPR68 Nonsynonymous SNV A261T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.9 18430 chr16 82673047 82673047 C T rs4782724 CDH13 Nonsynonymous SNV P55S 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 Benign 9.439 18431 chr14 75551326 75551326 C A rs377136228 NEK9 Nonsynonymous SNV D973Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.6 18432 chr4 79300899 79300899 T C rs35774552 FRAS1 Synonymous SNV S1104S 0.088 0.091 0.058 32 103 35 0.082 17 5 1 0 2 Benign 3.553 18433 chr14 99182527 99182535 GGATGCATC - rs139827156 C14orf177 0.069 0.083 0.048 33 81 32 0.085 14 2 0 0 1 18434 chr4 79300993 79300993 G A rs12512164 FRAS1 Nonsynonymous SNV E1136K 0.29 0.258 0.286 106 340 99 0.272 84 49 9 11 16 Benign 11.41 18435 chr16 83704419 83704419 G A rs35549391 CDH13 Nonsynonymous SNV A337T 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign/Likely benign 22.8 18436 chr4 17528463 17528463 G A rs2597791 CLRN2 Nonsynonymous SNV A153T 0.076 0.096 0.051 20 89 37 0.051 15 1 2 0 0 1.058 18437 chr15 34015013 34015013 G A rs2293027 RYR3 Synonymous SNV G2239G 0.215 0.221 0.194 70 252 85 0.179 57 27 6 6 10 0.431 18438 chr16 83817019 83817019 A G rs1048612 CDH13 Synonymous SNV A653A 0.81 0.826 0.837 314 951 317 0.805 246 391 128 102 128 Benign 0.39 18439 chr4 79372930 79372930 C T rs753752 FRAS1 Synonymous SNV H2156H 0.706 0.62 0.673 282 829 238 0.723 198 299 76 63 101 Benign 7.84 18440 chr4 17528570 17528570 G C rs2597792 CLRN2 Synonymous SNV S188S 0.076 0.096 0.051 20 89 37 0.051 15 1 2 0 0 8.524 18441 chr14 91755625 91755625 G A rs202217944 CCDC88C Nonsynonymous SNV S1422L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 18442 chr14 91671124 91671124 G A rs2295524 DGLUCY Nonsynonymous SNV D507N 0.159 0.125 0.156 76 187 48 0.195 46 16 4 1 4 20.4 18443 chr16 839262 839262 A G rs569951 CHTF18 Synonymous SNV R113R 0.993 0.992 0.993 387 1166 381 0.992 292 580 189 145 192 0.244 18444 chr4 79385719 79385719 G A rs6851427 FRAS1 Synonymous SNV A2337A 0.342 0.307 0.33 132 401 118 0.338 97 64 14 17 22 Benign 9.906 18445 chr16 840569 840569 C T rs150535361 CHTF18 Nonsynonymous SNV P266L 0.051 0.047 0.034 18 60 18 0.046 10 2 0 0 0 9.97 18446 chr14 91773494 91773494 G A rs1970911 CCDC88C Nonsynonymous SNV A1028V 0.125 0.122 0.116 39 147 47 0.1 34 3 8 3 2 Benign 6.796 18447 chr15 22863037 22863037 G A rs150191233 TUBGCP5 Synonymous SNV T686T 0.009 0.01 0 5 11 4 0.013 0 0 0 0 0 Benign 10.72 18448 chr14 91681888 91681888 G A rs34424078 DGLUCY Synonymous SNV P568P 0.088 0.086 0.058 24 103 33 0.062 17 8 0 1 1 8.065 18449 chr4 79387464 79387464 A G rs7684722 FRAS1 Nonsynonymous SNV K2378E 1 0.995 0.986 388 1174 382 0.995 290 587 190 143 193 Benign 17.36 18450 chr16 84115483 84115483 G A rs3743631 MBTPS1 Synonymous SNV P439P 0.481 0.5 0.412 172 565 192 0.441 121 135 51 24 36 15.91 18451 chr15 22925782 22925782 G C rs139395765 CYFIP1 Nonsynonymous SNV R34S 0.015 0.018 0.01 10 18 7 0.026 3 1 0 0 0 13.63 18452 chr16 84203612 84203612 A G rs17856705 DNAAF1 Nonsynonymous SNV K157R 0.403 0.401 0.34 134 473 154 0.344 100 95 37 23 21 Benign 0.005 18453 chr4 79387586 79387586 A G rs34840208 FRAS1 Synonymous SNV K2418K 0.288 0.365 0.306 105 338 140 0.269 90 51 25 10 13 Benign 3.418 18454 chr15 34137080 34137082 AGA - rs3217346 RYR3 E4436del 0.25 0.169 0.187 82 294 65 0.21 55 39 6 6 10 18455 chr15 34137200 34137200 T G rs41279228 RYR3 Synonymous SNV R4473R 0.316 0.211 0.228 109 371 81 0.279 67 65 6 8 20 4.236 18456 chr16 84203939 84203939 C T rs11644164 DNAAF1 Nonsynonymous SNV P266L 0.365 0.365 0.31 125 428 140 0.321 91 74 32 18 20 Benign 3.912 18457 chr4 79400868 79400868 C T rs11098194 FRAS1 Synonymous SNV D2813D 0.345 0.313 0.323 133 405 120 0.341 95 65 15 16 22 Benign 6.486 18458 chr15 34551082 34551082 G A rs7164902 SLC12A6 Synonymous SNV L144L 0.29 0.286 0.282 111 341 110 0.285 83 43 13 8 10 Benign 10.31 18459 chr4 79432455 79432455 A C rs3749488 FRAS1 Synonymous SNV R3270R 0.291 0.359 0.333 98 342 138 0.251 98 55 23 18 12 Benign 5.991 18460 chr4 17690072 17690072 T C rs61741063 FAM184B Nonsynonymous SNV Q524R 0.062 0.081 0.048 15 73 31 0.038 14 4 0 1 0 0.01 18461 chr16 84209634 84209634 C G rs2288019 DNAAF1 Synonymous SNV L362L 0.551 0.526 0.493 196 647 202 0.503 145 173 56 35 47 Benign 4.882 18462 chr16 84209738 84209738 T C rs2288020 DNAAF1 Nonsynonymous SNV L397S 0.319 0.305 0.282 108 374 117 0.277 83 54 23 15 13 Benign 0.01 18463 chr15 22969349 22969349 G A rs550408572 CYFIP1 Nonsynonymous SNV G428S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.7 18464 chr4 79443850 79443850 G A rs931606 FRAS1 Nonsynonymous SNV V3566I 0.601 0.615 0.585 231 706 236 0.592 172 207 71 56 67 Benign 8.962 18465 chr14 91883129 91883129 G A rs45437097 CCDC88C Synonymous SNV Y38Y 0.192 0.172 0.201 66 225 66 0.169 59 21 4 7 6 Benign 11.08 18466 chr16 84209815 84209815 C G rs2288021 DNAAF1 Nonsynonymous SNV L423V 0.22 0.281 0.276 97 258 108 0.249 81 25 18 13 11 Benign 0.151 18467 chr15 22990087 22990087 G A rs139635799 CYFIP1 Nonsynonymous SNV G472S 0.009 0.013 0.007 5 11 5 0.013 2 0 0 0 0 Benign 18.33 18468 chr15 34648935 34648935 G T rs57115249 NUTM1 Nonsynonymous SNV S899I 0.065 0.055 0.048 25 76 21 0.064 14 3 0 0 1 24.3 18469 chr4 79455714 79455714 C G rs4975070 FRAS1 Synonymous SNV P3679P 0.501 0.557 0.507 190 588 214 0.487 149 146 58 33 44 Benign 10.72 18470 chr15 102264476 102264476 C A rs1143136 TARS3 Nonsynonymous SNV A39S 0.242 0.224 0.241 85 284 86 0.218 71 42 10 11 7 15.06 18471 chr16 84209816 84209816 T C rs2288022 DNAAF1 Nonsynonymous SNV L423P 0.318 0.305 0.282 108 373 117 0.277 83 54 23 15 13 Benign 0.007 18472 chr15 34649631 34649631 G A rs2279685 NUTM1 Nonsynonymous SNV R1131H 0.062 0.052 0.048 25 73 20 0.064 14 3 0 0 1 23.2 18473 chr15 102277480 102277480 G C rs1052887 LOC100128108 Nonsynonymous SNV N75K 0.234 0.219 0.221 88 275 84 0.226 65 42 10 11 8 1.071 18474 chr4 79455733 79455733 C T rs4975139 FRAS1 Synonymous SNV L3686L 0.501 0.557 0.503 190 588 214 0.487 148 146 58 33 44 Benign 12.5 18475 chr4 22390167 22390167 C T rs9002 ADGRA3 Nonsynonymous SNV V1043M 0.29 0.26 0.279 114 340 100 0.292 82 45 14 10 15 0.503 18476 chr16 84209864 84209864 G C rs2288023 DNAAF1 Nonsynonymous SNV S439T 0.316 0.305 0.286 108 371 117 0.277 84 54 23 15 13 Benign 1.111 18477 chr15 23891503 23891503 C G rs2233063 MAGEL2 Nonsynonymous SNV A463P 0.046 0.052 0 24 54 20 0.062 0 0 1 0 0 Benign 0.421 18478 chr4 81124596 81124596 G C rs12780 PRDM8 Synonymous SNV R660R 0.292 0.307 0.231 110 343 118 0.282 68 42 19 8 17 0.556 18479 chr16 84213114 84213114 C T rs2230130 TAF1C Synonymous SNV V349V 0.318 0.307 0.293 111 373 118 0.285 86 55 24 17 13 7.019 18480 chr4 81529518 81529518 T C rs2867782 CFAP299 Nonsynonymous SNV I122T 0.905 0.917 0.929 362 1063 352 0.928 273 480 162 126 167 7.834 18481 chr16 84213434 84213434 A T rs2230129 TAF1C Nonsynonymous SNV L243M 0.422 0.427 0.367 151 496 164 0.387 108 97 38 21 24 Benign 12.46 18482 chr15 24921468 24921468 T C rs35870568 NPAP1 Nonsynonymous SNV W152R 0.022 0.023 0.044 11 26 9 0.028 13 0 0 1 1 0.005 18483 chr16 84213439 84213439 G A rs4150170 TAF1C Nonsynonymous SNV P241L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.85 18484 chr4 81884722 81884722 G A rs1052325 CFAP299 Nonsynonymous SNV V220I 0.848 0.857 0.827 329 996 329 0.844 243 420 145 99 138 9.333 18485 chr16 84215390 84215390 T C rs2230127 TAF1C Synonymous SNV A332A 0.368 0.354 0.32 120 432 136 0.308 94 72 29 18 15 0.364 18486 chr4 81967102 81967102 A T rs34847147 BMP3 Nonsynonymous SNV Q176L 0.012 0.005 0 0 14 2 0 0 0 0 0 0 0.311 18487 chr16 84217062 84217062 C T rs4782591 TAF1C Nonsynonymous SNV C91Y 0.997 0.997 0.993 389 1171 383 0.997 292 584 191 145 194 0.003 18488 chr15 38794566 38794566 A G rs12324402 RASGRP1 Synonymous SNV F460F 0.261 0.276 0.245 102 306 106 0.262 72 36 18 6 13 8.859 18489 chr4 81967188 81967188 C T rs6831040 BMP3 Nonsynonymous SNV L205F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.86 18490 chr16 84228237 84228237 A C rs11646787 LOC654780 0.561 0.563 0.571 223 659 216 0.572 168 176 58 44 61 3.008 18491 chr15 23086365 23086367 GCC - rs531550505 NIPA1 A16del 0.106 0.112 0.16 31 125 43 0.079 47 11 5 6 4 18492 chr15 24923283 24923283 G A rs36032407 NPAP1 Nonsynonymous SNV A757T 0.022 0.023 0.044 11 26 9 0.028 13 0 0 1 1 0.279 18493 chr4 82092870 82092870 A G rs17005080 PRKG2 Synonymous SNV N239N 0.227 0.201 0.173 87 266 77 0.223 51 27 8 4 7 4.553 18494 chr16 84228279 84228279 G A rs35446963 LOC654780 0.266 0.26 0.299 99 312 100 0.254 88 40 17 15 14 4.723 18495 chr16 84229436 84229436 G A rs62049905 ADAD2 Synonymous SNV S356S 0.277 0.268 0.306 99 325 103 0.254 90 41 17 14 14 4.648 18496 chr4 82377919 82377919 G T rs1026170006 RASGEF1B Synonymous SNV P67P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.42 18497 chr16 84229559 84229559 T C rs2303238 ADAD2 Synonymous SNV S397S 0.727 0.703 0.724 281 853 270 0.721 213 304 96 77 102 0.013 18498 chr4 83582211 83582211 C G rs3733227 SCD5 Nonsynonymous SNV E197Q 0.615 0.633 0.588 233 722 243 0.597 173 234 80 55 71 5.578 18499 chr4 25278738 25278738 C T rs116488560 PI4K2B Nonsynonymous SNV R459W 0 0 0 3 0 0 0.008 0 0 0 0 0 34 18500 chr16 84229580 84229580 C T rs2303239 ADAD2 Synonymous SNV A404A 0.276 0.258 0.31 99 324 99 0.254 91 36 17 15 14 13.74 18501 chr15 24923799 24923799 A C rs34413216 NPAP1 Nonsynonymous SNV T929P 0.022 0.023 0.044 11 26 9 0.028 13 0 0 1 1 0.039 18502 chr15 40259848 40259848 A C rs2291627 EIF2AK4 Nonsynonymous SNV I441L 0.124 0.143 0.133 59 145 55 0.151 39 15 4 5 6 Benign 7.114 18503 chr16 84256410 84256410 C T rs7196482 KCNG4 Nonsynonymous SNV G325R 0.185 0.174 0.19 90 217 67 0.231 56 17 9 6 10 14.19 18504 chr4 83788344 83788344 A T rs2045478 SEC31A Synonymous SNV G331G 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 10.8 18505 chr4 83838217 83838217 G A rs1031639 THAP9 Nonsynonymous SNV M284I 0.992 1 0.993 389 1165 384 0.997 292 578 192 145 194 0.001 18506 chr16 84270381 84270381 G A rs244811 KCNG4 Synonymous SNV S237S 0.589 0.594 0.575 222 691 228 0.569 169 206 65 50 60 10.35 18507 chr16 84270476 84270476 G A rs11646443 KCNG4 Nonsynonymous SNV R206W 0.355 0.365 0.371 136 417 140 0.349 109 70 22 22 23 21.1 18508 chr4 83839799 83839799 A G rs6535411 THAP9 Nonsynonymous SNV N812D 0.992 1 0.993 389 1165 384 0.997 292 578 192 145 194 0.001 18509 chr16 84360533 84360533 A G rs12933084 WFDC1 Nonsynonymous SNV K217R 0.245 0.198 0.265 99 288 76 0.254 78 31 3 14 13 0.015 18510 chr15 27018841 27018841 G A rs25409 GABRB3 Nonsynonymous SNV P11S 0.014 0.018 0.02 3 16 7 0.008 6 0 0 0 0 Conflicting interpretations of pathogenicity 16.19 18511 chr4 25806319 25806319 C T rs34954596 SEL1L3 Synonymous SNV K505K 0.039 0.039 0.041 14 46 15 0.036 12 0 0 0 1 9.635 18512 chr4 83867599 83867599 G C rs34929292 LIN54 Nonsynonymous SNV T238S 0.001 0.005 0.003 6 1 2 0.015 1 0 0 0 0 12.89 18513 chr16 84444349 84444349 A C rs247818 ATP2C2 Nonsynonymous SNV M165L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.412 18514 chr15 27018797 27018797 G A rs20318 GABRB3 Synonymous SNV P25P 0.131 0.112 0.102 40 154 43 0.103 30 18 9 1 2 Benign 18.34 18515 chr4 83900043 83900043 A G rs6535422 LIN54 Synonymous SNV V46V 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 0.228 18516 chr14 93180727 93180727 A G rs59223493 LGMN Synonymous SNV N158N 0.02 0.013 0 10 24 5 0.026 0 0 0 0 0 9.373 18517 chr16 84485573 84485573 C A rs247885 ATP2C2 Synonymous SNV L418L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.29 18518 chr4 84188850 84188850 G A rs1129617 COQ2 Synonymous SNV S280S 0.294 0.315 0.306 124 345 121 0.318 90 45 19 16 22 Benign 4.459 18519 chr16 84493032 84493032 C T rs3743654 ATP2C2-AS1 0.516 0.523 0.514 208 606 201 0.533 151 164 55 38 59 5.655 18520 chr4 84191031 84191031 A G rs6535454 COQ2 Synonymous SNV D248D 0.687 0.708 0.701 265 806 272 0.679 206 273 92 75 95 Benign 0.336 18521 chr16 84493080 84493080 A G rs3743655 ATP2C2-AS1 0.247 0.232 0.262 87 290 89 0.223 77 41 11 9 12 2.628 18522 chr4 84205872 84205872 C A rs6818847 COQ2 Nonsynonymous SNV V16L 0.66 0.669 0.66 258 775 257 0.662 194 252 85 70 91 Benign 5.038 18523 chr14 93399050 93399050 G A rs9658667 CHGA Nonsynonymous SNV G231S 0.03 0.023 0.034 6 35 9 0.015 10 1 0 0 0 14.3 18524 chr16 84493144 84493144 C G rs410388 ATP2C2 Nonsynonymous SNV A789G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.32 18525 chr4 84230619 84230619 T C rs11099592 HPSE Nonsynonymous SNV K249R 0.772 0.768 0.714 306 906 295 0.785 210 344 111 79 120 10.82 18526 chr16 84493216 84493216 T C rs377261 ATP2C2-AS1 0.462 0.448 0.442 170 542 172 0.436 130 134 41 29 40 1.526 18527 chr15 40564576 40564576 C T rs3743137 BUB1B-PAK6, PAK6 Nonsynonymous SNV P337L 0.116 0.141 0.109 36 136 54 0.092 32 8 3 2 2 15.5 18528 chr15 28230318 28230318 C T rs1800407 OCA2 Nonsynonymous SNV R395Q 0.093 0.099 0.061 33 109 38 0.085 18 5 3 0 3 Benign/Likely benign 27.3 18529 chr16 84493260 84493260 C T rs538450650 ATP2C2-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.711 18530 chr16 84493927 84493927 G A rs35858301 ATP2C2-AS1 0 0 0.452 0 0 0 0 133 0 0 29 0 5.142 18531 chr4 36340753 36340753 G A rs9654132 DTHD1 Nonsynonymous SNV R497H 0.268 0.214 0.235 112 315 82 0.287 69 45 11 7 14 23 18532 chr4 84364751 84364751 A G rs7665103 HELQ Synonymous SNV I427I 0.321 0.279 0.265 141 377 107 0.362 78 60 14 15 28 3.802 18533 chr16 84493954 84493954 - A rs376234583 ATP2C2-AS1 0 0 0.459 0 0 0 0 135 0 0 29 0 18534 chr15 22925851 22925851 C T rs4134802 CYFIP1 Synonymous SNV P57P 0.198 0.188 0.238 94 233 72 0.241 70 23 6 8 11 16.11 18535 chr16 84494020 84494020 G T rs393515 ATP2C2-AS1 0 0 0.997 0 0 0 0 293 0 0 146 0 4.152 18536 chr4 84374480 84374480 C T rs1494961 HELQ Nonsynonymous SNV V306I 0.451 0.453 0.395 196 530 174 0.503 116 126 40 25 50 8.121 18537 chr16 84494252 84494252 C T rs72806651 ATP2C2-AS1 0.055 0.034 0.051 17 65 13 0.044 15 4 0 0 1 4.388 18538 chr4 36345377 36345377 G A rs2270880 DTHD1 Synonymous SNV E594E 0.135 0.141 0.143 56 158 54 0.144 42 11 8 4 5 7.432 18539 chr15 40589002 40589002 A G rs2229691 PLCB2 Synonymous SNV T477T 0.202 0.188 0.177 68 237 72 0.174 52 26 5 4 6 0.271 18540 chr16 84494275 84494275 C T rs2241640 ATP2C2 Synonymous SNV P632P 0.465 0.477 0.459 192 546 183 0.492 135 138 42 29 49 13 18541 chr4 37327583 37327583 A C rs73130327 NWD2 Synonymous SNV L59L 0.101 0.104 0.136 36 118 40 0.092 40 9 2 0 1 3.093 18542 chr16 84494450 84494450 G A rs381467 ATP2C2-AS1 0.461 0.445 0.439 170 541 171 0.436 129 135 41 30 41 0.002 18543 chr4 84376743 84376743 A T rs6831595 HELQ Nonsynonymous SNV V35E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 18544 chr15 40590134 40590134 G A rs2229690 PLCB2 Synonymous SNV S394S 0.489 0.44 0.446 175 574 169 0.449 131 141 37 28 44 12.83 18545 chr16 84495761 84495761 G C rs34205686 ATP2C2-AS1 0.295 0.289 0.32 123 346 111 0.315 94 70 21 14 21 2.008 18546 chr15 40631097 40631097 C T rs202159905 CCDC9B Nonsynonymous SNV R124Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 18547 chr16 84516204 84516204 G A rs62640938 MEAK7 Synonymous SNV N357N 0.015 0.008 0.027 9 18 3 0.023 8 0 0 0 0 1.605 18548 chr15 29416901 29416901 A G rs2279482 FAM189A1 Nonsynonymous SNV V431A 0.072 0.063 0.099 42 85 24 0.108 29 7 1 2 1 0.001 18549 chr4 85762385 85762385 T C rs2046402 WDFY3 Synonymous SNV L112L 0.408 0.396 0.466 162 479 152 0.415 137 95 28 36 34 2.18 18550 chr16 84516309 84516309 G A rs433293 MEAK7 Synonymous SNV N322N 0.376 0.401 0.391 144 441 154 0.369 115 87 30 22 27 0.634 18551 chr15 40633030 40633030 G A rs71472430 CCDC9B Synonymous SNV P41P 0.038 0.026 0.027 19 45 10 0.049 8 0 0 0 1 9.565 18552 chr16 84520325 84520325 T C rs431389 MEAK7 Synonymous SNV G290G 0.43 0.445 0.432 154 505 171 0.395 127 119 37 28 29 0.504 18553 chr4 86915848 86915848 T C rs10003909 ARHGAP24 Synonymous SNV N154N 0.19 0.203 0.228 81 223 78 0.208 67 17 7 8 7 0.003 18554 chr15 40633138 40633138 A T rs4924455 CCDC9B Synonymous SNV A5A 0.112 0.104 0.095 24 132 40 0.062 28 7 4 1 1 1.648 18555 chr16 84520396 84520396 A G rs422145 MEAK7 Nonsynonymous SNV C267R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.979 18556 chr4 86915923 86915923 G A rs11547776 ARHGAP24 Synonymous SNV R179R 0.189 0.203 0.221 81 222 78 0.208 65 17 7 7 7 5.655 18557 chr15 40648417 40648417 C T rs561449637 PHGR1 Synonymous SNV C54C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.584 18558 chr4 87684031 87684031 A G rs710832 PTPN13 Synonymous SNV P1044P 0.74 0.755 0.735 273 869 290 0.7 216 323 111 75 96 6.473 18559 chr16 84520537 84520537 T C rs431818 MEAK7 Nonsynonymous SNV I220V 0.993 0.987 0.983 385 1166 379 0.987 289 579 187 142 190 0.001 18560 chr4 87706506 87706506 T G rs989902 PTPN13 Nonsynonymous SNV Y1890D 0.366 0.424 0.459 144 430 163 0.369 135 127 46 31 41 8.005 18561 chr15 26806154 26806154 G A rs74907974 GABRB3 Synonymous SNV G250G 0.014 0.013 0.003 2 16 5 0.005 1 0 0 0 0 Benign 11.41 18562 chr16 84522897 84522897 G C rs436278 MEAK7 Nonsynonymous SNV D172E 0.412 0.432 0.422 150 484 166 0.385 124 112 35 27 27 11.79 18563 chr15 26825545 26825545 G A rs75965657 GABRB3 Synonymous SNV T116T 0.009 0.013 0.003 0 10 5 0 1 0 0 0 0 Benign 14.31 18564 chr15 29421014 29421014 G C rs2306934 FAM189A1 Synonymous SNV T327T 0.088 0.073 0.109 42 103 28 0.108 32 7 0 1 1 7.364 18565 chr16 84690608 84690608 C T rs74338298 KLHL36 Synonymous SNV A65A 0.037 0.042 0.037 14 44 16 0.036 11 0 0 0 0 13.45 18566 chr4 87724970 87724970 G A rs61750816 PTPN13 Nonsynonymous SNV R2014Q 0.043 0.034 0.027 15 50 13 0.038 8 0 0 0 1 22.2 18567 chr16 84691044 84691044 C T rs3751762 KLHL36 Synonymous SNV L211L 0.358 0.385 0.378 159 420 148 0.408 111 63 26 23 39 10.97 18568 chr15 29421054 29421054 C T rs2306933 FAM189A1 Nonsynonymous SNV G314D 0.072 0.055 0.088 38 84 21 0.097 26 6 0 1 1 5.56 18569 chr4 38829832 38829832 T C rs3775073 TLR6 Synonymous SNV K421K 0.316 0.305 0.303 139 371 117 0.356 89 59 14 11 24 0.001 18570 chr16 847743 847743 C T rs2294451 CHTF18 Nonsynonymous SNV P928L 0.131 0.141 0.211 72 154 54 0.185 62 24 9 9 9 10.52 18571 chr4 87769929 87769929 T C rs13106574 SLC10A6 Nonsynonymous SNV I114V 0.237 0.258 0.218 103 278 99 0.264 64 38 14 10 10 11.31 18572 chr4 38830012 38830012 G C rs3821985 TLR6 Synonymous SNV T361T 0.316 0.302 0.296 138 371 116 0.354 87 59 14 10 24 0.185 18573 chr14 78161131 78161131 C T rs17825440 ALKBH1 Nonsynonymous SNV M135I 0.008 0.01 0.007 5 9 4 0.013 2 0 0 0 0 26.1 18574 chr16 84796603 84796603 A G rs12932018 USP10 Synonymous SNV Q521Q 0.332 0.279 0.286 133 390 107 0.341 84 70 17 13 16 1.295 18575 chr15 40660515 40660515 G A rs35565646 DISP2 Synonymous SNV P734P 0.175 0.143 0.15 55 205 55 0.141 44 26 3 4 5 0.381 18576 chr4 87770252 87770252 G A rs17694522 SLC10A6 Nonsynonymous SNV S6F 0.06 0.052 0.058 21 71 20 0.054 17 1 0 0 1 23.7 18577 chr15 31334362 31334362 C T rs17815774 TRPM1 Nonsynonymous SNV V644M 0.055 0.07 0.031 31 64 27 0.079 9 3 0 0 1 Benign 21.4 18578 chr16 84808824 84808824 C G rs774298 USP10 Synonymous SNV L734L 0.548 0.539 0.537 204 643 207 0.523 158 165 56 44 51 12.4 18579 chr16 84883102 84883102 C T rs8061351 CRISPLD2 Synonymous SNV P157P 0.714 0.68 0.718 275 838 261 0.705 211 295 89 72 95 12.8 18580 chr15 30260983 30260983 G C rs141536951 TJP1 Synonymous SNV R20R 0.07 0.089 0.068 18 82 34 0.046 20 2 3 2 0 13 18581 chr4 38879949 38879949 G A rs11096964 FAM114A1 Nonsynonymous SNV G84R 0.196 0.185 0.194 77 230 71 0.197 57 22 6 3 9 15.13 18582 chr4 87809387 87809387 G T rs1550931 C4orf36 Nonsynonymous SNV S36Y 0.988 0.99 0.983 385 1160 380 0.987 289 573 188 142 190 0.002 18583 chr16 84922859 84922859 C T rs767050 CRISPLD2 Synonymous SNV A443A 0.549 0.492 0.582 211 644 189 0.541 171 176 49 50 61 15.36 18584 chr15 40750740 40750740 A G rs3743143 BAHD1 Nonsynonymous SNV E26G 0.057 0.052 0.02 10 67 20 0.026 6 4 0 0 0 22.9 18585 chr16 85009970 85009970 A G rs7195377 ZDHHC7 Synonymous SNV G302G 0.597 0.565 0.595 250 701 217 0.641 175 205 60 48 80 6.534 18586 chr4 38880046 38880046 T C rs11555334 FAM114A1 Nonsynonymous SNV L116P 0.196 0.185 0.194 77 230 71 0.197 57 22 6 3 9 0.011 18587 chr16 855518 855523 GCAGCT - rs137876084 PRR25 A27_A28del 0.083 0.081 0.044 33 98 31 0.085 13 6 3 0 6 18588 chr4 88231429 88231429 G A rs62305723 HSD17B13 Nonsynonymous SNV P224S 0.055 0.049 0.078 19 64 19 0.049 23 4 1 3 1 26.7 18589 chr14 90650684 90650684 C T rs35931687 KCNK13 Synonymous SNV A188A 0.02 0.023 0.007 6 23 9 0.015 2 0 0 0 0 9.76 18590 chr15 40855210 40855210 T A rs10152546 CCDC32 Nonsynonymous SNV K11I 0.441 0.432 0.435 178 518 166 0.456 128 114 37 26 41 13.05 18591 chr16 855676 855676 A G rs78564080 PRR25 Synonymous SNV P78P 0.083 0.081 0.044 33 98 31 0.085 13 6 3 0 6 0.016 18592 chr16 855717 855717 C G rs1005190 PRR25 Nonsynonymous SNV T92S 0.373 0.372 0.371 140 438 143 0.359 109 87 29 20 32 0.006 18593 chr4 38928551 38928559 CTTAGAGCA - rs150712944 FAM114A1 E385_L387del 0.26 0.25 0 114 305 96 0.292 0 38 13 0 16 18594 chr4 88258483 88258483 T C rs9991501 HSD17B11 Nonsynonymous SNV Q283R 0.983 0.977 0.949 376 1154 375 0.964 279 568 183 134 181 0.001 18595 chr15 31294702 31294702 G T rs61734298 TRPM1 Nonsynonymous SNV P1418T 0.033 0.044 0.024 18 39 17 0.046 7 2 0 0 0 Benign 0.002 18596 chr16 85689333 85689333 A T rs151194801 GSE1 Nonsynonymous SNV M163L 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 Benign 14.83 18597 chr4 38928670 38928670 T G rs75643395 FAM114A1 Nonsynonymous SNV L423R 0.261 0.25 0 114 306 96 0.292 0 38 13 0 16 3.168 18598 chr15 40862064 40862064 C T rs1058734 RPUSD2 Synonymous SNV A176A 0.445 0.438 0.435 178 523 168 0.456 128 117 39 26 41 14.21 18599 chr4 88293887 88293887 G A rs6531985 HSD17B11 Synonymous SNV V177V 0.373 0.326 0.323 142 438 125 0.364 95 80 19 13 28 6.819 18600 chr4 38928675 38928675 T C rs78950885 FAM114A1 Nonsynonymous SNV S425P 0.261 0.25 0 114 306 96 0.292 0 38 13 0 16 2.005 18601 chr4 38928732 38928732 A G rs113174475 FAM114A1 Nonsynonymous SNV T444A 0.261 0.25 0 114 306 96 0.292 0 38 13 0 16 3.936 18602 chr16 85706047 85706047 A C rs9940601 GSE1 Synonymous SNV R1082R 0.589 0.594 0.643 235 691 228 0.603 189 200 67 60 70 0.002 18603 chr4 88403609 88403609 G A rs72654103 SPARCL1 Synonymous SNV H420H 0.032 0.039 0.031 21 38 15 0.054 9 0 1 0 0 0.481 18604 chr4 38930921 38930921 A G rs3188469 FAM114A1 Synonymous SNV L169L 0.076 0.083 0.112 37 89 32 0.095 33 6 1 2 0 11.19 18605 chr4 88534235 88534235 A G rs2736982 DSPP Synonymous SNV S299S 0.559 0.599 0.571 196 656 230 0.503 168 172 67 52 48 Benign 0.095 18606 chr16 85838653 85838653 T C rs2599091 COX4I1 Synonymous SNV L62L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.913 18607 chr15 40903684 40903684 A G rs12911738 KNL1 Nonsynonymous SNV T87A 0.686 0.677 0.014 276 805 260 0.708 4 366 117 2 126 Benign 8.6 18608 chr14 78392115 78392115 G A rs55721310 ADCK1 Synonymous SNV T271T 0.018 0.018 0.014 6 21 7 0.015 4 0 0 0 0 10.61 18609 chr4 38933859 38933859 G A rs17429619 FAM114A1 Nonsynonymous SNV V236I 0.089 0.083 0.133 42 104 32 0.108 39 8 1 3 1 11.23 18610 chr16 863336 863336 T C rs11860086 PRR25 Synonymous SNV A228A 0.156 0.156 0.17 51 183 60 0.131 50 12 5 5 3 0.594 18611 chr4 88584148 88584148 C T rs2615498 DMP1 Synonymous SNV S390S 0.207 0.19 0.184 84 243 73 0.215 54 25 8 5 13 Benign 11.54 18612 chr16 86565826 86565826 C G rs3751803 MTHFSD Nonsynonymous SNV G315R 0.878 0.857 0.874 337 1031 329 0.864 257 457 143 111 144 2.623 18613 chr15 29443949 29443949 A G rs3764211 FAM189A1 Synonymous SNV D206D 0.046 0.049 0.065 20 54 19 0.051 19 3 1 1 0 3.016 18614 chr4 88584160 88584160 G A rs2615497 DMP1 Synonymous SNV E394E 0.288 0.266 0.245 107 338 102 0.274 72 50 15 8 17 Benign 0.711 18615 chr16 86566039 86566039 C T rs3751801 MTHFSD Nonsynonymous SNV A244T 0.088 0.099 0.116 32 103 38 0.082 34 4 2 1 0 4.627 18616 chr4 88732531 88732531 T C rs4693878 IBSP Synonymous SNV N141N 0.75 0.771 0.639 296 880 296 0.759 188 352 116 71 115 0.023 18617 chr15 33858935 33858935 G A rs11853872 RYR3 Synonymous SNV Q401Q 0.135 0.156 0.082 41 158 60 0.105 24 9 4 1 2 9.682 18618 chr4 38945169 38945169 A G rs1060582 FAM114A1 Synonymous SNV A434A 0.072 0.094 0.085 37 85 36 0.095 25 5 3 2 4 4.687 18619 chr4 88732746 88732746 A G rs13144371 IBSP Nonsynonymous SNV D213G 0.778 0.794 0.721 300 913 305 0.769 212 357 116 76 116 1.196 18620 chr14 95035911 95035911 C T rs143259752 SERPINA4 Synonymous SNV V458V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.35 18621 chr16 86566042 86566042 G A rs3751800 MTHFSD Nonsynonymous SNV R243C 0.088 0.099 0.116 32 103 38 0.082 34 4 2 1 0 28.7 18622 chr15 33873751 33873751 G A rs2077268 RYR3 Nonsynonymous SNV V494I 0.149 0.161 0.119 45 175 62 0.115 35 14 4 0 4 16.39 18623 chr15 31515856 31515856 G A rs3743235 LOC283710 Nonsynonymous SNV A56V 0.037 0.029 0.014 19 43 11 0.049 4 2 0 0 3 8.752 18624 chr4 88732763 88732763 A G rs17013181 IBSP Nonsynonymous SNV R219G 0.212 0.208 0.173 92 249 80 0.236 51 33 10 6 13 6.923 18625 chr14 81609779 81609779 G A rs113951800 TSHR Synonymous SNV A459A 0.024 0.031 0.017 17 28 12 0.044 5 0 0 0 0 Benign/Likely benign 10.29 18626 chr16 86575737 86575737 C T rs3829533 MTHFSD Synonymous SNV T175T 0.079 0.081 0.116 31 93 31 0.079 34 4 1 1 0 15.27 18627 chr15 40914831 40914831 C G rs33931006 KNL1 Nonsynonymous SNV T790S 0.031 0.039 0.017 18 36 15 0.046 5 1 0 0 2 Uncertain significance 0.002 18628 chr14 95236245 95236245 C T rs191352872 GSC Synonymous SNV P36P 0.032 0.021 0.01 8 37 8 0.021 3 0 0 0 0 17.93 18629 chr16 87350773 87350773 C A rs3748393 C16orf95 Nonsynonymous SNV A26S 0.503 0.477 0.51 187 591 183 0.479 150 137 39 37 48 18.13 18630 chr15 31776004 31776004 C G rs2338682 OTUD7A Synonymous SNV V758V 0.244 0.156 0.007 107 287 60 0.274 2 135 29 1 48 0.029 18631 chr4 88732911 88732911 C T rs1054628 IBSP Nonsynonymous SNV A268V 0.084 0.081 0.075 35 99 31 0.09 22 5 1 1 1 23.4 18632 chr14 95912388 95912388 G A rs61749972 SYNE3 Nonsynonymous SNV T497M 0.095 0.083 0.092 41 111 32 0.105 27 4 3 1 5 13.93 18633 chr16 8736028 8736028 T C rs1614616 METTL22 Synonymous SNV L291L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.193 18634 chr4 39114640 39114640 A G KLHL5 Synonymous SNV K548K 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 7.937 18635 chr15 40915045 40915045 T G rs8041534 KNL1 Synonymous SNV T861T 0.39 0.375 0.401 153 458 144 0.392 118 83 29 27 28 Benign 6.315 18636 chr16 8738427 8738427 T C rs1641066 METTL22 Synonymous SNV L342L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.141 18637 chr14 95053849 95053849 T C rs6113 SERPINA5 Synonymous SNV F50F 0.062 0.063 0.058 29 73 24 0.074 17 1 2 2 2 0.006 18638 chr4 88898941 88898941 C T rs11728697 SPP1 Nonsynonymous SNV A24V 0.589 0.589 0.585 220 691 226 0.564 172 215 73 53 67 12.61 18639 chr16 8738499 8738499 G A rs1731000 METTL22 Nonsynonymous SNV A366T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.599 18640 chr14 95053863 95053863 C T rs6118 SERPINA5 Nonsynonymous SNV A55V 0.062 0.063 0.058 29 73 24 0.074 17 1 2 2 2 22.3 18641 chr4 88902692 88902692 T C rs4754 SPP1 Synonymous SNV D53D 0.36 0.346 0.327 146 423 133 0.374 96 75 24 16 29 0.02 18642 chr4 39216221 39216221 C T rs2167494 WDR19 Synonymous SNV C137C 0.208 0.221 0.31 82 244 85 0.21 91 66 27 16 16 Benign 14.1 18643 chr16 8738579 8738579 A G rs1641067 METTL22 Synonymous SNV Q392Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.737 18644 chr14 81743565 81743565 T C rs36017951 STON2 Nonsynonymous SNV N697S 0.066 0.065 0.048 36 78 25 0.092 14 4 0 0 0 0.32 18645 chr4 88903853 88903853 C T rs1126616 SPP1 Synonymous SNV A209A 0.36 0.346 0.327 146 423 133 0.374 96 75 24 16 29 10.76 18646 chr16 87445363 87445363 G A rs1050846 ZCCHC14 Synonymous SNV H988H 0.337 0.352 0.316 132 396 135 0.338 93 67 25 13 24 0.224 18647 chr4 88928968 88928968 G C rs1805044 PKD2 Nonsynonymous SNV R28P 0.17 0.154 0.136 63 199 59 0.162 40 42 12 9 16 Benign 25.6 18648 chr15 40916237 40916237 A G rs17747633 KNL1 Nonsynonymous SNV K1259E 0.437 0.435 0.418 176 513 167 0.451 123 113 38 25 39 Benign 9.163 18649 chr16 87445839 87445839 C T rs3748400 ZCCHC14 Nonsynonymous SNV V830M 0.664 0.706 0.636 256 780 271 0.656 187 254 94 64 82 24 18650 chr14 95053891 95053891 C T rs6111 SERPINA5 Synonymous SNV S64S 0.062 0.063 0.054 29 73 24 0.074 16 1 2 2 2 8.188 18651 chr4 39450229 39450229 C A rs4975017 KLB Nonsynonymous SNV Q1020K 0.28 0.276 0.306 139 329 106 0.356 90 42 14 16 19 0.008 18652 chr4 89415396 89415396 T C rs6857425 HERC5 Synonymous SNV L786L 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 6.769 18653 chr16 87446053 87446053 G A rs2042395 ZCCHC14 Synonymous SNV A758A 0.67 0.708 0.639 258 786 272 0.662 188 259 94 64 84 2.005 18654 chr14 95054012 95054012 A G rs6119 SERPINA5 Nonsynonymous SNV K105E 0.061 0.063 0.058 29 72 24 0.074 17 1 2 2 2 0.003 18655 chr15 33445983 33445983 G A rs114943683 FMN1 Nonsynonymous SNV A378V 0.078 0.07 0.085 29 92 27 0.074 25 4 0 2 1 1.746 18656 chr16 87446368 87446368 C T rs2241615 ZCCHC14 Synonymous SNV P516P 0.129 0.128 0.139 54 151 49 0.138 41 8 2 2 1 7.997 18657 chr14 96703484 96703484 C T rs1046248 BDKRB2 Nonsynonymous SNV R14C 0.077 0.07 0.075 38 90 27 0.097 22 3 2 1 2 24.6 18658 chr4 90169925 90169925 A G rs7653897 GPRIN3 Nonsynonymous SNV V446A 0.501 0.589 0.595 194 588 226 0.497 175 142 66 49 48 0.001 18659 chr16 87678144 87678144 T C rs918368 JPH3 Synonymous SNV S221S 0.515 0.544 0.442 189 605 209 0.485 130 165 59 23 48 1.422 18660 chr14 92441008 92441008 G A rs141259390 TRIP11 Nonsynonymous SNV T1845I 0.008 0.005 0 4 9 2 0.01 0 1 0 0 0 Conflicting interpretations of pathogenicity 24.5 18661 chr16 87723838 87723838 T C rs34767155 JPH3 Synonymous SNV H624H 0.3 0.292 0.364 117 352 112 0.3 107 50 19 18 13 0.096 18662 chr15 32925226 32925226 T G rs77143444 ARHGAP11A, ARHGAP11A-SCG5 Synonymous SNV S195S 0.003 0.008 0.01 2 3 3 0.005 3 0 0 0 0 7.515 18663 chr4 90874252 90874252 G A MMRN1 Nonsynonymous SNV V1124I 0 0 0 0 0 0 0 0 0 0 0 0 17.43 18664 chr4 39466779 39466779 A G rs35086467 LIAS Synonymous SNV E169E 0.045 0.044 0.054 19 53 17 0.049 16 0 0 0 0 Benign 10.17 18665 chr16 87788864 87788864 G A rs2303771 KLHDC4 Nonsynonymous SNV T45I 0.345 0.315 0.316 126 405 121 0.323 93 61 19 16 21 0.065 18666 chr15 33261185 33261185 G A rs117804335 FMN1 Nonsynonymous SNV P683L 0.064 0.055 0.024 35 75 21 0.09 7 2 2 1 1 Benign 5.673 18667 chr4 94316763 94316763 T G rs1385405 GRID2 Synonymous SNV G322G 0.679 0.677 0.68 257 797 260 0.659 200 271 86 70 77 0.111 18668 chr16 88105725 88105725 G A rs8050209 BANP Synonymous SNV A412A 0.596 0.576 0.558 251 700 221 0.644 164 204 66 40 83 7.396 18669 chr4 95531417 95531417 A G rs10017461 PDLIM5 Synonymous SNV A279A 0.963 0.969 0.939 368 1131 372 0.944 276 545 180 129 173 10.05 18670 chr16 8839954 8839954 A G rs1731017 ABAT Nonsynonymous SNV Q56R 0.584 0.563 0.497 205 686 216 0.526 146 202 64 38 55 Benign 0.311 18671 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*64 0.095 0.076 0.051 33 112 29 0.085 15 4 1 4 0 18672 chr4 95539267 95539267 G A rs966845 PDLIM5 Nonsynonymous SNV A20T 0.994 0.997 0.99 388 1167 383 0.995 291 580 191 144 193 3.456 18673 chr15 41797253 41797253 G A rs758325566 LTK Synonymous SNV A515A 0.01 0.008 0 0 12 3 0 0 0 0 0 0 10.14 18674 chr15 41798142 41798142 C T rs35932273 LTK Nonsynonymous SNV D474N 0.038 0.034 0.017 17 45 13 0.044 5 0 1 0 2 23.7 18675 chr16 88494947 88494947 T C rs11648572 ZNF469 Nonsynonymous SNV S357P 0.955 0.966 0.976 377 1121 371 0.967 287 534 179 140 182 Benign 0.001 18676 chr4 40337523 40337523 C T rs56241474 CHRNA9 Synonymous SNV I13I 0.293 0.336 0.316 128 344 129 0.328 93 44 23 13 19 18.11 18677 chr4 95561459 95561459 A G rs7690296 PDLIM5 Nonsynonymous SNV T56A 0.456 0.445 0.497 179 535 171 0.459 146 118 37 35 41 0.001 18678 chr16 88494976 88494976 A C rs11640794 ZNF469 Nonsynonymous SNV R366S 0.917 0.919 0.949 368 1077 353 0.944 279 494 163 133 173 Benign 0.003 18679 chr4 40337944 40337944 C T rs56159866 CHRNA9 Synonymous SNV V55V 0.211 0.214 0.18 92 248 82 0.236 53 22 9 4 9 15.6 18680 chr4 95578588 95578588 G A rs13107595 PDLIM5 Nonsynonymous SNV S167N 0.993 0.997 0.986 388 1166 383 0.995 290 579 191 143 193 14.82 18681 chr16 88495407 88495407 G C rs7199961 ZNF469 Nonsynonymous SNV G510A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.001 18682 chr4 40356371 40356371 C T rs761475834 CHRNA9 Nonsynonymous SNV T425M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.97 18683 chr15 41819716 41819716 C T rs1200345 RPAP1 Nonsynonymous SNV E506K 0.515 0.523 0.473 202 605 201 0.518 139 146 56 35 50 28.4 18684 chr4 96106322 96106322 A G rs2289043 UNC5C Nonsynonymous SNV M721T 0.674 0.643 0.701 278 791 247 0.713 206 261 76 76 94 20.4 18685 chr16 88495654 88495654 A G rs12927001 ZNF469 Synonymous SNV P592P 0.919 0.922 0.949 369 1079 354 0.946 279 496 164 133 174 Benign 0.004 18686 chr15 41821752 41821752 T C rs1200349 RPAP1 Synonymous SNV R358R 0.515 0.523 0.476 202 605 201 0.518 140 146 56 35 50 11.04 18687 chr15 36983962 36983962 T C rs7183415 C15orf41 Synonymous SNV Y104Y 0.071 0.068 0.088 23 83 26 0.059 26 2 2 0 0 Benign 0.011 18688 chr15 41827757 41827757 T A rs2297382 RPAP1 Nonsynonymous SNV K165M 0.043 0.055 0.075 20 51 21 0.051 22 1 0 2 0 6.759 18689 chr16 88496008 88496008 T C rs12918876 ZNF469 Synonymous SNV P710P 0.744 0.755 0.769 308 874 290 0.79 226 324 105 85 126 Benign 0.005 18690 chr4 96123981 96123981 C T rs3733212 UNC5C Synonymous SNV A679A 0.735 0.69 0.741 298 863 265 0.764 218 317 87 79 113 15.76 18691 chr14 99988570 99988570 C G rs75827961 CCDC85C Nonsynonymous SNV G292A 0.026 0.034 0.02 11 31 13 0.028 6 0 1 0 0 6.778 18692 chr16 88497031 88497031 T C rs9924504 ZNF469 Synonymous SNV I1051I 0.997 1 0.949 389 1170 384 0.997 279 585 192 139 194 Benign 1.514 18693 chr4 96127869 96127869 T G rs2276322 UNC5C Synonymous SNV P604P 0.717 0.677 0.694 289 842 260 0.741 204 301 83 69 109 0.409 18694 chr16 88497400 88497400 G A rs9938800 ZNF469 Synonymous SNV P1174P 0.966 0.961 0.956 375 1134 369 0.962 281 554 180 134 181 Benign 11.97 18695 chr4 96256616 96256616 A G rs4699423 UNC5C Synonymous SNV S97S 0.475 0.505 0.476 208 558 194 0.533 140 128 44 34 56 6.836 18696 chr16 88497446 88497446 A G rs7197071 ZNF469 Nonsynonymous SNV K1190E 0.901 0.906 0.908 364 1058 348 0.933 267 473 157 120 169 Benign 3.021 18697 chr15 33916053 33916053 G C rs2229117 RYR3 Synonymous SNV L801L 0.101 0.12 0.146 62 119 46 0.159 43 7 3 4 4 8.577 18698 chr4 96256673 96256673 G A rs1843018 UNC5C Synonymous SNV P78P 0.784 0.802 0.786 291 920 308 0.746 231 359 124 91 110 13.29 18699 chr15 100252710 100252712 CAG - rs373652230 MEF2A Q352del 0.078 0.115 0.054 30 92 44 0.077 16 10 2 0 2 18700 chr14 88862529 88862529 G A rs3179969 SPATA7 Nonsynonymous SNV V42M 0.177 0.169 0.293 76 208 65 0.195 86 43 11 11 16 Benign 3.255 18701 chr16 88497651 88497651 C A rs141255631 ZNF469 Nonsynonymous SNV A1258E 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Likely benign 0.091 18702 chr4 98893437 98893437 A G rs783960 STPG2 Synonymous SNV D309D 0.432 0.38 0.52 174 507 146 0.446 153 151 40 42 51 0.418 18703 chr15 100269635 100269635 G C rs72760587 LYSMD4 Nonsynonymous SNV T134S 0.08 0.099 0.065 37 94 38 0.095 19 3 1 0 2 0.221 18704 chr15 41865310 41865310 - C rs766990473 TYRO3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18705 chr4 98893476 98893476 C T rs783959 STPG2 Synonymous SNV S296S 0.492 0.432 0.52 189 578 166 0.485 153 152 41 42 51 14.4 18706 chr16 88498221 88498221 C T rs4782300 ZNF469 Nonsynonymous SNV P1448L 0.897 0.857 0.864 346 1053 329 0.887 254 476 144 109 155 Benign 11.71 18707 chr15 41865311 41865311 - GGCAGAGG rs752166327 TYRO3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18708 chr4 99808254 99808254 G A rs62323192 EIF4E Synonymous SNV D145D 0.308 0.286 0.316 125 362 110 0.321 93 55 18 18 23 11.31 18709 chr16 88498297 88498297 T G rs12445417 ZNF469 Synonymous SNV S1473S 0.954 0.951 0.973 376 1120 365 0.964 286 533 174 141 182 Benign 2.18 18710 chr15 34648647 34648647 T A rs17236868 NUTM1 Nonsynonymous SNV V803E 0.055 0.081 0.058 33 65 31 0.085 17 6 2 0 0 13.56 18711 chr15 39879717 39879717 G A rs2229364 THBS1 Synonymous SNV K430K 0.131 0.125 0.156 56 154 48 0.144 46 11 2 3 3 Benign 13.12 18712 chr4 100045616 100045616 C T rs1126673 ADH4 Nonsynonymous SNV V374I 0.665 0.672 0.605 257 781 258 0.659 178 262 89 56 89 6.145 18713 chr16 88499539 88499539 C G rs9931465 ZNF469 Synonymous SNV T1887T 0.897 0.867 0.867 345 1053 333 0.885 255 475 146 111 154 Benign 5.347 18714 chr15 100269737 100269737 G A rs8041078 LYSMD4 Nonsynonymous SNV A100V 0.089 0.107 0.071 40 104 41 0.103 21 3 2 1 2 7.862 18715 chr16 88502482 88502482 C T rs3812953 ZNF469 Synonymous SNV R2868R 0.548 0.503 0.554 211 643 193 0.541 163 172 46 42 59 Benign 9.453 18716 chr15 39880277 39880277 G A rs35275624 THBS1 Synonymous SNV P443P 0.084 0.076 0.088 28 99 29 0.072 26 3 1 2 0 12.25 18717 chr16 88502505 88502505 A G rs1983014 ZNF469 Nonsynonymous SNV H2876R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 0.01 18718 chr4 100047812 100047812 G A rs1126672 ADH4 Synonymous SNV L351L 0.305 0.305 0.371 124 358 117 0.318 109 45 16 21 23 8.839 18719 chr15 39880358 39880358 C T rs2228261 THBS1 Synonymous SNV N470N 0.131 0.125 0.156 56 154 48 0.144 46 11 2 3 3 Benign 9.229 18720 chr14 93275714 93275714 G A rs34515753 GOLGA5 Nonsynonymous SNV R281Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 34 18721 chr15 100269749 100269749 G A rs8041089 LYSMD4 Nonsynonymous SNV A96V 0.089 0.109 0.071 40 104 42 0.103 21 3 2 1 2 4.386 18722 chr15 42041750 42041750 A G rs61757235 MGA Nonsynonymous SNV N1773S 0.018 0.023 0.02 9 21 9 0.023 6 0 0 0 2 Benign 0.001 18723 chr15 39880822 39880822 A G rs2292305 THBS1 Nonsynonymous SNV T523A 0.131 0.125 0.156 57 154 48 0.146 46 11 2 3 3 Benign 0.35 18724 chr4 41015823 41015823 G A rs2292234 APBB2 Synonymous SNV G204G 0.242 0.253 0.177 106 284 97 0.272 52 38 15 5 9 0.274 18725 chr4 100048414 100048414 T C rs1126671 ADH4 Nonsynonymous SNV I309V 0.677 0.688 0.609 259 795 264 0.664 179 261 88 56 88 0.001 18726 chr15 34130697 34130697 G C rs75286462 RYR3 Synonymous SNV V4167V 0.055 0.042 0.034 27 64 16 0.069 10 2 0 0 0 Benign 0.008 18727 chr16 88504868 88504868 A G rs904783 ZNF469 Nonsynonymous SNV T3664A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.027 18728 chr16 88505635 88505635 A G rs4782301 ZNF469 Synonymous SNV P3919P 0.793 0.76 0.827 328 931 292 0.841 243 375 113 100 140 Benign 0.011 18729 chr15 39882178 39882178 A G rs2228262 THBS1 Nonsynonymous SNV N700S 0.085 0.078 0.095 29 100 30 0.074 28 3 1 2 0 26.4 18730 chr15 34151901 34151901 C T rs79305633 RYR3 Synonymous SNV F4751F 0.061 0.044 0.031 29 72 17 0.074 9 2 0 0 0 Benign 17.94 18731 chr4 100052733 100052733 C A rs1126670 ADH4 Synonymous SNV P255P 0.68 0.688 0.609 259 798 264 0.664 179 262 88 56 88 13.87 18732 chr16 88505734 88505734 C T rs4782362 ZNF469 Synonymous SNV S3952S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 16.3 18733 chr4 100062819 100062819 A G rs2032349 ADH4 Synonymous SNV S45S 0.983 0.992 0.98 385 1154 381 0.987 288 567 189 141 190 0.018 18734 chr15 34542872 34542872 C G rs17236798 SLC12A6 Synonymous SNV P502P 0.244 0.242 0.248 82 287 93 0.21 73 27 7 9 7 Benign 13.28 18735 chr16 88535341 88535341 G A rs56292801 MIR5189 0 0 0.33 0 0 0 0 97 0 0 11 0 6.192 18736 chr15 39885301 39885301 T C rs2228263 THBS1 Synonymous SNV D956D 0.176 0.177 0.17 59 207 68 0.151 50 17 7 4 6 Benign 0.917 18737 chr4 100064326 100064326 A T rs3919370 ADH4 Stop gain Y22X 0.305 0.305 0.367 125 358 117 0.321 108 45 16 20 24 5.885 18738 chr15 34544468 34544468 C T rs2290940 SLC12A6 Synonymous SNV S397S 0.245 0.242 0.248 82 288 93 0.21 73 27 7 9 7 Benign 15.71 18739 chr16 88535407 88535407 C G rs35613341 MIR5189 0 0 0.367 0 0 0 0 108 0 0 16 0 5.675 18740 chr15 42134097 42134097 C T rs3816533 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV R191C 0.141 0.128 0.102 60 165 49 0.154 30 10 2 3 6 10.21 18741 chr15 39910052 39910052 C G rs16969386 FSIP1 Nonsynonymous SNV G528A 0.133 0.128 0.16 59 156 49 0.151 47 14 2 3 4 26.7 18742 chr16 88552370 88552370 A G rs3751673 ZFPM1 Nonsynonymous SNV R22G 0.451 0.438 0.456 138 529 168 0.354 134 116 41 32 26 0.003 18743 chr15 38776807 38776815 GGTGGTGGT - rs201831942 FAM98B G427_G429del 0.066 0.065 0.017 28 78 25 0.072 5 8 4 0 2 18744 chr4 100140306 100140306 A T rs4699735 ADH6 Nonsynonymous SNV C2S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 18745 chr15 100589181 100589181 G A rs61752831 ADAMTS17 Synonymous SNV I824I 0.035 0.044 0.058 22 41 17 0.056 17 1 1 1 0 Benign 10.12 18746 chr15 34635863 34635863 G C rs73376010 NUTM1 Nonsynonymous SNV K10N 0.175 0.159 0.129 48 205 61 0.123 38 18 1 3 3 Benign 2.377 18747 chr16 88552400 88552400 C T ZFPM1 Nonsynonymous SNV H32Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 18748 chr15 39910404 39910404 G A rs12908846 FSIP1 Nonsynonymous SNV L411F 0.133 0.128 0.156 59 156 49 0.151 46 14 2 3 4 29.1 18749 chr14 91165541 91165541 G A rs45602131 LOC105370622 0.053 0.06 0.02 15 62 23 0.038 6 2 0 0 0 4.015 18750 chr15 42137246 42137246 A G rs200461081 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV N406S 0.011 0.008 0.003 6 13 3 0.015 1 0 0 0 0 0.055 18751 chr4 100235053 100235053 A G rs1789882 ADH1B Synonymous SNV I251I 0.855 0.857 0.84 329 1004 329 0.844 247 430 143 104 138 6.307 18752 chr15 38990769 38990769 T C rs7172816 LINC02694 0.187 0.143 0.221 97 219 55 0.249 65 25 7 6 18 3.034 18753 chr16 88594567 88594567 C T rs35121729 ZFPM1 Synonymous SNV C211C 0.061 0.073 0.078 22 72 28 0.056 23 2 2 0 1 4.604 18754 chr4 100239319 100239319 T C rs1229984 ADH1B Nonsynonymous SNV H48R 0.896 0.875 0.878 337 1052 336 0.864 258 473 145 114 146 8.977 18755 chr15 34638198 34638198 A G rs12595504 NUTM1 Nonsynonymous SNV Q21R 0.137 0.133 0.109 31 161 51 0.079 32 8 1 2 1 6.446 18756 chr15 100692845 100692845 A G rs28567966 ADAMTS17 Nonsynonymous SNV M482T 0.164 0.214 0.16 69 193 82 0.177 47 10 6 4 5 Benign 0.887 18757 chr15 39910431 39910431 A G rs10152640 FSIP1 Nonsynonymous SNV C402R 0.31 0.299 0.316 118 364 115 0.303 93 60 19 14 20 0.017 18758 chr16 88598489 88598489 C T rs45611335 ZFPM1 Synonymous SNV C264C 0.076 0.109 0.092 36 89 42 0.092 27 5 0 3 2 10.97 18759 chr16 88599023 88599023 A G rs56041036 ZFPM1 Synonymous SNV G316G 0.062 0.073 0.092 22 73 28 0.056 27 2 2 0 1 10.34 18760 chr4 100341705 100341705 C A rs139516819 ADH7 Synonymous SNV G282G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.26 18761 chr16 88599659 88599659 G T rs71395304 ZFPM1 Nonsynonymous SNV K431N 0.062 0.07 0.082 21 73 27 0.054 24 2 2 0 1 19.43 18762 chr4 100443720 100443720 G A rs13143848 C4orf17 Nonsynonymous SNV G64E 0.352 0.378 0.344 133 413 145 0.341 101 76 24 14 23 0.004 18763 chr4 42020142 42020142 A G rs2581423 SLC30A9 Nonsynonymous SNV T97A 0.738 0.74 0.976 302 866 284 0.774 287 430 142 141 151 0.501 18764 chr15 40308859 40308859 G T rs35602605 EIF2AK4 Nonsynonymous SNV G1306C 0.14 0.143 0.133 70 164 55 0.179 39 17 4 3 8 Benign 34 18765 chr16 88599696 88599697 GA - rs796900280 ZFPM1 E444Afs*227 0.997 1 0.997 387 1170 384 0.992 293 585 192 146 193 18766 chr4 100443782 100443782 T C rs13119384 C4orf17 Nonsynonymous SNV S85P 0.474 0.521 0.446 199 557 200 0.51 131 135 54 25 52 0.009 18767 chr16 88599701 88599701 T - rs67322929 ZFPM1 L446Wfs*352 0.997 1 0.997 387 1170 384 0.992 293 585 192 146 193 18768 chr16 88599703 88599705 TGG - rs67873604 ZFPM1 L446_A447delinsP 0.997 1 0.997 387 1170 384 0.992 293 585 192 146 193 18769 chr16 88600079 88600079 C G rs13335396 ZFPM1 Synonymous SNV P571P 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 7.546 18770 chr4 100443784 100443784 C G rs61732380 C4orf17 Synonymous SNV S85S 0.307 0.328 0.293 112 360 126 0.287 86 59 18 11 16 3.284 18771 chr16 88600996 88600996 A T ZFPM1 Nonsynonymous SNV H877L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 18772 chr4 100443800 100443800 G A rs17029087 C4orf17 Nonsynonymous SNV E91K 0.307 0.328 0.293 112 360 126 0.287 86 59 18 11 16 3.517 18773 chr16 88644005 88644005 A G rs899728 ZC3H18 Synonymous SNV K158K 0.887 0.885 0.891 332 1041 340 0.851 262 468 149 118 140 0.049 18774 chr15 40328596 40328596 - TGC rs550938068 SRP14 A116_P117insA 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 18775 chr16 8868776 8868776 C A rs1641022 ABAT Synonymous SNV V328V 0.41 0.461 0.367 166 481 177 0.426 108 98 35 20 35 Benign 14.97 18776 chr4 100485255 100485255 G A rs11944752 MTTP Star tloss M1? 0.273 0.302 0.262 132 320 116 0.338 77 41 16 12 22 Benign 6.945 18777 chr4 46086060 46086060 T C rs976156 GABRG1 Synonymous SNV T88T 0.262 0.32 0.425 124 308 123 0.318 125 112 43 27 37 0.083 18778 chr16 88713236 88713236 A G rs4673 CYBA Nonsynonymous SNV Y72H 0.588 0.57 0.578 216 690 219 0.554 170 201 60 47 60 Benign 11.69 18779 chr15 100269808 100269808 C T rs145097118 LYSMD4 Synonymous SNV L76L 0.009 0.003 0.01 5 10 1 0.013 3 0 0 0 0 3.116 18780 chr15 40330518 40330518 T G rs1059395 SRP14 Synonymous SNV R59R 0.214 0.214 0.177 106 251 82 0.272 52 29 12 6 20 11.8 18781 chr4 100504566 100504566 G C rs61733139 MTTP Nonsynonymous SNV Q122H 0.039 0.039 0.048 22 46 15 0.056 14 1 0 1 1 Benign/Likely benign 12.83 18782 chr14 94642417 94642417 A G rs34520961 PPP4R4 Synonymous SNV T48T 0.076 0.073 0.088 35 89 28 0.09 26 4 1 0 2 1.376 18783 chr4 47514685 47514685 C T rs33995001 ATP10D Nonsynonymous SNV T43I 0.435 0.422 0.429 166 511 162 0.426 126 114 36 30 30 7.087 18784 chr16 88717386 88717386 T C rs8053867 CYBA Synonymous SNV E12E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.565 18785 chr16 88724347 88724347 G T rs2279258 MVD Synonymous SNV R78R 0.634 0.648 0.656 243 744 249 0.623 193 237 74 61 74 7.73 18786 chr4 100504664 100504664 T C rs3816873 MTTP Nonsynonymous SNV I155T 0.276 0.305 0.262 132 324 117 0.338 77 41 16 12 22 Benign/Likely benign 11.74 18787 chr15 40488851 40488851 G A rs1047130 BUB1B Synonymous SNV A388A 0.259 0.242 0.235 79 304 93 0.203 69 42 14 14 4 Benign 11.58 18788 chr16 88767769 88767769 G C rs2306049 RNF166 Synonymous SNV L71L 0.561 0.552 0.514 212 659 212 0.544 151 194 60 40 57 8.515 18789 chr4 47525054 47525054 T C rs7683838 ATP10D Nonsynonymous SNV C171R 0.12 0.104 0.112 49 141 40 0.126 33 12 1 5 3 4.274 18790 chr15 40573675 40573675 G T rs12440450 ANKRD63 Synonymous SNV T371T 0.216 0.182 0.211 75 253 70 0.192 62 22 10 6 9 7.345 18791 chr16 88772963 88772963 G A rs137933845 CTU2 Nonsynonymous SNV G9R 0.001 0 0.017 0 1 0 0 5 0 0 0 0 11.29 18792 chr4 100510859 100510859 T C rs991811 MTTP Synonymous SNV G178G 0.396 0.443 0.422 187 465 170 0.479 124 87 35 29 44 Benign 6.656 18793 chr4 47560002 47560002 C A rs34208443 ATP10D Nonsynonymous SNV P716T 0.191 0.201 0.19 86 224 77 0.221 56 21 8 10 6 0.249 18794 chr15 100692953 100692953 G A rs72755233 ADAMTS17 Nonsynonymous SNV T446I 0.062 0.063 0.054 16 73 24 0.041 16 2 0 1 0 Benign 20.6 18795 chr16 88778615 88778615 G A rs7205989 CTU2 Nonsynonymous SNV V164M 0.538 0.526 0.548 201 632 202 0.515 161 171 56 43 42 8.032 18796 chr4 100516022 100516022 C G rs2306985 MTTP Nonsynonymous SNV H324Q 0.395 0.443 0.422 187 464 170 0.479 124 87 35 29 44 Benign/Likely benign 0.115 18797 chr16 88779739 88779739 A G rs11549837 CTU2 Nonsynonymous SNV M166V 0.289 0.31 0.286 113 339 119 0.29 84 51 20 15 18 0.123 18798 chr15 40583560 40583560 G T rs62021888 PLCB2 Synonymous SNV R911R 0.311 0.354 0.327 117 365 136 0.3 96 60 25 19 18 17.39 18799 chr15 40544493 40544493 A G rs55799438 C15orf56 Nonsynonymous SNV I160T 0.267 0.224 0.347 101 314 86 0.259 102 63 17 19 15 0.023 18800 chr15 40005772 40005772 C T rs937961 FSIP1 Nonsynonymous SNV R354H 0.079 0.065 0.088 29 93 25 0.074 26 2 1 2 1 5.424 18801 chr4 100518283 100518283 T C rs17533489 MTTP Synonymous SNV A350A 0.135 0.167 0.143 72 158 64 0.185 42 10 4 3 7 Benign 5.275 18802 chr16 88780175 88780175 G A rs4782321 CTU2 Nonsynonymous SNV V245I 0.079 0.083 0.048 28 93 32 0.072 14 5 2 1 1 0.023 18803 chr15 40544520 40544520 G C rs55974545 C15orf56 Nonsynonymous SNV P151R 0.265 0.25 0.337 105 311 96 0.269 99 63 16 15 14 6.375 18804 chr15 40716408 40716408 C A rs28429209 IVD Nonsynonymous SNV Q405K 0.038 0.055 0.088 20 45 21 0.051 26 2 1 1 2 4.648 18805 chr4 47593283 47593283 G C rs4145944 ATP10D Nonsynonymous SNV S1389T 0.351 0.305 0.31 148 412 117 0.379 91 73 21 14 29 0.021 18806 chr4 100570681 100570681 T A rs4699384 C4orf54 Nonsynonymous SNV M1709L 0.242 0.25 0.238 101 284 96 0.259 70 41 12 6 12 0.001 18807 chr16 88780635 88780635 - GTGT rs149847195 CTU2 Frameshift insertion T280Cfs*4 0.077 0.083 0.048 28 90 32 0.072 14 5 2 1 1 18808 chr16 88780635 88780640 GGTGTG - rs11278302 CTU2 T280Qfs*6 0.833 0.839 0.874 339 978 322 0.869 257 415 135 115 147 18809 chr4 100571001 100571001 T C rs1491242 C4orf54 Nonsynonymous SNV Q1602R 0.17 0.167 0.173 64 200 64 0.164 51 22 5 3 3 23.9 18810 chr15 40544617 40544617 G A rs55863440 C15orf56 Nonsynonymous SNV P119S 0.308 0.297 0.354 124 362 114 0.318 104 64 16 16 14 9.779 18811 chr4 47667064 47667064 T C rs11934749 CORIN Nonsynonymous SNV H421R 0.784 0.776 0.752 310 921 298 0.795 221 366 119 83 127 0.036 18812 chr16 88781073 88781073 G A rs11549835 CTU2 Nonsynonymous SNV R340Q 0.081 0.086 0.048 28 95 33 0.072 14 5 2 1 1 7.096 18813 chr15 100943045 100943045 T C rs1023783 CERS3 Nonsynonymous SNV D342G 0.017 0.016 0.01 5 20 6 0.013 3 0 1 0 0 0.037 18814 chr15 40268998 40268998 - GACGAC rs1060499857 EIF2AK4 D737_E738insDD 0.165 0.143 0.136 62 194 55 0.159 40 13 6 1 6 18815 chr4 100574195 100574195 A G rs4699385 C4orf54 Synonymous SNV R537R 0.216 0.229 0.218 96 253 88 0.246 64 34 10 5 14 0.421 18816 chr15 42360950 42360950 C T rs750051 PLA2G4D Nonsynonymous SNV R807Q 0.138 0.109 0.122 52 162 42 0.133 36 10 3 3 0 22.9 18817 chr4 47682174 47682174 A G rs10517195 CORIN Synonymous SNV S372S 0.512 0.563 0.507 217 601 216 0.556 149 158 62 38 62 5.516 18818 chr15 101169694 101169694 A G rs61752833 ASB7 Synonymous SNV A88A 0.054 0.068 0.037 24 63 26 0.062 11 2 2 0 0 5.311 18819 chr16 88781125 88781125 T C rs8043637 CTU2 Synonymous SNV C357C 0.913 0.922 0.925 370 1072 354 0.949 272 492 163 128 175 0.003 18820 chr4 100574312 100574312 C T rs555671992 C4orf54 Synonymous SNV P498P 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 8.775 18821 chr16 88781614 88781614 G C rs1058158 CTU2 Nonsynonymous SNV G482R 0.313 0.286 0.306 112 368 110 0.287 90 55 20 11 19 0.445 18822 chr4 100574821 100574821 C G rs79703522 C4orf54 Nonsynonymous SNV G329R 0.198 0.219 0.197 81 232 84 0.208 58 27 9 4 9 0.807 18823 chr15 42361022 42361022 C T rs750052 PLA2G4D Nonsynonymous SNV R783Q 0.138 0.109 0.122 52 162 42 0.133 36 10 3 3 0 1.519 18824 chr16 88782676 88782676 A G rs2290902 PIEZO1 Synonymous SNV P2353P 0.916 0.922 0.922 371 1075 354 0.951 271 495 163 128 176 Benign 0.005 18825 chr15 42363012 42363012 G C rs17690899 PLA2G4D Nonsynonymous SNV A649G 0.139 0.109 0.119 52 163 42 0.133 35 11 3 3 0 0.01 18826 chr4 100575711 100575711 C T rs17029277 C4orf54 Nonsynonymous SNV R32Q 0.197 0.219 0.204 82 231 84 0.21 60 27 9 4 9 13.69 18827 chr15 101432888 101432888 - TA rs199883488 LOC101927751 0.02 0.005 0.017 7 24 2 0.018 5 0 0 0 1 18828 chr16 88783100 88783100 T C rs1803382 PIEZO1 Nonsynonymous SNV I2265V 0.326 0.305 0.316 121 383 117 0.31 93 58 22 13 21 Benign 14.12 18829 chr15 101445815 101445815 A G rs3803430 ALDH1A3 Nonsynonymous SNV M279V 0.058 0.044 0.051 16 68 17 0.041 15 2 0 0 0 Benign 0.116 18830 chr15 101592004 101592004 G A rs201580059 LRRK1 Synonymous SNV T1176T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.132 18831 chr4 100784980 100784980 C T rs3737484 DAPP1 Synonymous SNV F218F 0.29 0.289 0.333 122 341 111 0.313 98 53 18 21 17 16.24 18832 chr15 40627845 40627845 G A rs55641696 CCDC9B Synonymous SNV S373S 0.284 0.326 0.293 119 334 125 0.305 86 41 21 15 17 9.167 18833 chr15 42363043 42363043 T G rs74678783 PLA2G4D Nonsynonymous SNV K639Q 0.139 0.109 0.112 52 163 42 0.133 33 11 3 3 0 0.481 18834 chr4 101109161 101109161 G C rs3749604 DDIT4L Synonymous SNV T85T 0.282 0.258 0.306 119 331 99 0.305 90 50 13 12 15 4.339 18835 chr16 88783449 88783449 C G rs8057031 PIEZO1 Synonymous SNV L2214L 0.593 0.617 0.622 248 696 237 0.636 183 210 73 55 82 Benign 1.152 18836 chr4 102751076 102751076 G A rs10516487 BANK1 Nonsynonymous SNV R31H 0.302 0.281 0.337 133 354 108 0.341 99 52 13 21 27 Uncertain significance 15.21 18837 chr15 42363078 42363078 T C rs77186114 PLA2G4D Nonsynonymous SNV Y627C 0.135 0.104 0.095 51 159 40 0.131 28 11 3 3 0 0.718 18838 chr4 48037926 48037926 A G rs13116684 NIPAL1 Nonsynonymous SNV I324V 0.269 0.268 0.293 108 316 103 0.277 86 43 9 11 18 15.29 18839 chr16 88783521 88783521 T C rs6500491 PIEZO1 Synonymous SNV P2190P 0.92 0.922 0.925 371 1080 354 0.951 272 499 163 128 176 Benign 0.025 18840 chr15 101561275 101561275 C T rs55798315 LRRK1 Nonsynonymous SNV P543S 0.025 0.023 0.01 16 29 9 0.041 3 0 0 0 1 Likely benign 29.8 18841 chr16 88787608 88787610 CTT - rs150376294 PIEZO1 K1878del 0.349 0.328 0.344 129 410 126 0.331 101 63 27 19 23 18842 chr15 42363395 42363395 C T rs78165678 PLA2G4D Nonsynonymous SNV R601H 0.141 0.109 0.119 52 165 42 0.133 35 11 3 3 0 12.95 18843 chr4 102751276 102751276 C T rs10516486 BANK1 Synonymous SNV L98L 0.432 0.419 0.459 183 507 161 0.469 135 113 29 31 45 9.871 18844 chr15 101718700 101718700 G A rs2005180 CHSY1 Synonymous SNV Y434Y 0.065 0.044 0.054 25 76 17 0.064 16 5 0 0 0 Benign 0.46 18845 chr16 88787673 88787673 G A rs35159887 PIEZO1 Nonsynonymous SNV P1857S 0.287 0.292 0.313 116 337 112 0.297 92 44 21 15 19 Benign 2.478 18846 chr4 102839287 102839287 G A rs3733197 BANK1 Nonsynonymous SNV A250T 0.342 0.333 0.388 134 402 128 0.344 114 71 21 28 22 9.462 18847 chr15 42363480 42363480 G A rs17747505 PLA2G4D Nonsynonymous SNV R573W 0.141 0.109 0.119 52 165 42 0.133 35 11 3 3 0 8.08 18848 chr16 88787704 88787704 G C rs8043924 PIEZO1 Synonymous SNV A1846A 0.867 0.867 0.85 357 1018 333 0.915 250 442 146 112 164 Benign 3.259 18849 chr15 101567547 101567547 G C rs41319544 LRRK1 Synonymous SNV V829V 0.14 0.115 0.105 42 164 44 0.108 31 13 1 3 1 10.54 18850 chr4 102965043 102965043 T C rs3113676 BANK1 Nonsynonymous SNV C517R 0.997 0.987 0.986 389 1171 379 0.997 290 584 188 144 194 0.857 18851 chr15 40660566 40660566 G A rs72733420 DISP2 Synonymous SNV A751A 0.211 0.227 0.173 83 248 87 0.213 51 24 14 4 4 2.804 18852 chr16 88791458 88791458 G A rs11645197 PIEZO1 Nonsynonymous SNV P1398L 0.268 0.266 0.313 116 315 102 0.297 92 46 22 17 20 Benign 21.8 18853 chr4 48172266 48172266 G A rs2271173 TEC Synonymous SNV S151S 0.346 0.37 0.221 113 406 142 0.29 65 77 29 13 21 7.853 18854 chr15 101605859 101605859 C T rs41373050 LRRK1 Synonymous SNV V1739V 0.021 0.016 0.007 9 25 6 0.023 2 0 0 0 1 Benign 8.795 18855 chr4 103225513 103225513 T C rs11097773 SLC39A8 Synonymous SNV G200G 0.198 0.188 0.173 66 232 72 0.169 51 19 9 6 4 7.192 18856 chr16 88792047 88792047 A G rs4782430 PIEZO1 Synonymous SNV F1338F 0.864 0.87 0.864 358 1014 334 0.918 254 439 146 112 165 Benign 3.279 18857 chr4 103228734 103228734 C T rs35411892 SLC39A8 Synonymous SNV T70T 0.195 0.188 0.173 67 229 72 0.172 51 19 9 6 5 13.6 18858 chr4 48492769 48492769 A T rs74929644 ZAR1 Nonsynonymous SNV Q154L 0.461 0.422 0.524 193 541 162 0.495 154 158 43 45 59 0.005 18859 chr16 88800785 88800785 C T rs35265318 PIEZO1 Nonsynonymous SNV R720H 0.093 0.089 0.048 27 109 34 0.069 14 6 2 1 0 8.292 18860 chr4 103514658 103514658 T C rs1609993 NFKB1 Synonymous SNV A380A 0.899 0.875 0.871 344 1055 336 0.882 256 476 147 114 153 0.013 18861 chr4 103553372 103553372 C T rs75826658 MANBA Nonsynonymous SNV V828I 0.02 0.013 0.024 9 23 5 0.023 7 0 0 0 0 Benign 28.8 18862 chr15 102359203 102359203 G A rs79724132 OR4F15 Nonsynonymous SNV A272T 0.037 0.031 0.044 20 44 12 0.051 13 1 0 2 0 27.6 18863 chr4 48582909 48582909 G A rs4695391 FRYL Synonymous SNV S744S 0.529 0.505 0.582 218 621 194 0.559 171 165 45 48 66 12.24 18864 chr16 88800814 88800814 G A rs35353288 PIEZO1 Synonymous SNV D710D 0.094 0.089 0.051 27 110 34 0.069 15 6 2 1 0 1.631 18865 chr4 103555992 103555992 A G rs2272697 MANBA Synonymous SNV L790L 0.497 0.503 0.435 188 584 193 0.482 128 143 51 30 49 Benign 4.621 18866 chr16 88800913 88800913 C T rs34908386 PIEZO1 Synonymous SNV V677V 0.095 0.094 0.048 27 112 36 0.069 14 8 2 1 0 Benign 15.13 18867 chr4 49000542 49000542 C T rs142708462 CWH43 Nonsynonymous SNV T233I 0.004 0.008 0 11 5 3 0.028 0 0 0 0 0 1.709 18868 chr15 42568547 42568547 C G rs8043515 GANC Nonsynonymous SNV L11V 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 0.182 18869 chr4 103557077 103557077 G A rs2866413 MANBA Nonsynonymous SNV T701M 0.497 0.503 0.432 188 584 193 0.482 127 143 51 30 49 Benign 6.508 18870 chr15 41688732 41688732 C T rs35227875 NDUFAF1 Nonsynonymous SNV E176K 0.029 0.034 0.024 15 34 13 0.038 7 1 0 0 1 Conflicting interpretations of pathogenicity 20.6 18871 chr4 49063872 49063872 C A rs1051447 CWH43 Nonsynonymous SNV H662N 0.382 0.292 0.571 166 449 112 0.426 168 214 51 77 77 24.9 18872 chr16 88802573 88802573 G A rs78905828 PIEZO1 Synonymous SNV L514L 0.09 0.086 0.048 27 106 33 0.069 14 7 2 1 0 1.165 18873 chr4 103911069 103911069 C A rs2715591 SLC9B1 Nonsynonymous SNV Q33H 0.998 1 0.854 389 1172 384 0.997 251 585 192 125 194 0.002 18874 chr15 24921649 24921649 T C rs3784246 NPAP1 Nonsynonymous SNV V212A 0.084 0.078 0.082 29 99 30 0.074 24 6 1 1 2 0.043 18875 chr16 88804352 88804352 G A rs927305666 PIEZO1 Nonsynonymous SNV P337L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 18876 chr4 106156163 106156163 G A rs61744960 TET2 Nonsynonymous SNV G355D 0.035 0.047 0.058 14 41 18 0.036 17 3 1 0 0 not provided 24.9 18877 chr16 88804734 88804734 A G rs7184427 PIEZO1 Nonsynonymous SNV V250A 0.837 0.865 0.864 360 983 332 0.923 254 416 146 111 166 Benign 8.74 18878 chr4 53610272 53610272 C T rs61731317 ERVMER34-1 Synonymous SNV P472P 0.14 0.128 0.129 48 164 49 0.123 38 13 4 4 1 10.99 18879 chr16 88804925 88804925 C - rs34600315 LOC100289580 0.721 0.75 0.772 320 847 288 0.821 227 311 108 91 128 18880 chr4 106196951 106196951 A G rs2454206 TET2 Nonsynonymous SNV I1762V 0.301 0.357 0.279 118 353 137 0.303 82 56 26 15 20 not provided 0.002 18881 chr16 88808743 88808743 A G rs6500495 PIEZO1 Nonsynonymous SNV I83T 0.871 0.901 0.905 368 1023 346 0.944 266 449 158 121 174 Benign 7.008 18882 chr4 53611668 53611668 T C rs3733504 ERVMER34-1 Nonsynonymous SNV Y7C 0.145 0.13 0.136 50 170 50 0.128 40 13 4 4 2 9.375 18883 chr15 42720288 42720288 G C rs11544099 ZNF106 Synonymous SNV L804L 0.144 0.138 0.16 44 169 53 0.113 47 11 4 1 1 9.636 18884 chr4 106317429 106317429 C G rs13787 PPA2 Nonsynonymous SNV K116N 0.369 0.427 0.303 167 433 164 0.428 89 83 38 23 35 19.9 18885 chr16 88809368 88809368 G T rs28525359 LOC339059 0 0 0.745 0 0 0 0 219 0 0 84 0 1.73 18886 chr15 42744094 42744094 A G rs12440118 ZNF106 Nonsynonymous SNV W103R 0.181 0.159 0.18 59 212 61 0.151 53 19 7 2 3 0.255 18887 chr16 88809434 88809434 A G rs9925084 LOC339059 0 0 0.745 0 0 0 0 219 0 0 84 0 1.364 18888 chr15 41857303 41857303 T C rs2277536 TYRO3 Synonymous SNV A204A 0.323 0.284 0.265 116 379 109 0.297 78 57 18 9 15 8.489 18889 chr4 54966667 54966667 C T rs3194383 GSX2 Synonymous SNV S52S 0.632 0.578 0.568 230 742 222 0.59 167 238 58 44 65 14.29 18890 chr16 88809480 88809480 A G rs9925171 LOC339059 0 0 0.745 0 0 0 0 219 0 0 84 0 1.665 18891 chr15 42820589 42820589 G A rs1060291 SNAP23 Synonymous SNV T132T 0.295 0.281 0.293 101 346 108 0.259 86 48 16 9 9 12.26 18892 chr4 106395181 106395181 G A rs4699179 PPA2 Synonymous SNV R9R 0.126 0.122 0.119 47 148 47 0.121 35 11 3 2 2 6.786 18893 chr15 41865525 41865525 G T rs62001448 TYRO3 Nonsynonymous SNV V624L 0.118 0.099 0.058 37 138 38 0.095 17 0 0 0 0 Benign 32 18894 chr15 42976440 42976440 G A rs79365604 STARD9 Synonymous SNV G888G 0.011 0.01 0.007 4 13 4 0.01 2 0 0 0 0 Benign 1.374 18895 chr16 88809686 88809686 T C rs9927855 LOC339059 0 0 0.745 0 0 0 0 219 0 0 84 0 1.468 18896 chr4 106474096 106474096 T C rs6533206 ARHGEF38 Synonymous SNV T58T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.41 18897 chr16 88809773 88809773 G C rs8048714 LOC339059 0 0 0.905 0 0 0 0 266 0 0 121 0 0.703 18898 chr15 43250212 43250212 T C rs78948790 UBR1 Nonsynonymous SNV R1612G 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 18899 chr4 54966919 54966919 T C rs1132998 GSX2 Synonymous SNV H136H 0.631 0.578 0.558 228 741 222 0.585 164 239 58 44 64 1.465 18900 chr15 41865664 41865664 - GTGGGCGTTCGG rs745760625 TYRO3 G674_V675insWAFG 0.021 0.029 0.034 6 25 11 0.015 10 0 0 0 0 18901 chr16 88809893 88809893 G A rs9933845 LOC339059 0 0 0.66 0 0 0 0 194 0 0 67 0 1.668 18902 chr4 106575269 106575269 A G rs17036076 ARHGEF38 Synonymous SNV L352L 0.076 0.052 0.085 26 89 20 0.067 25 4 0 0 0 7.925 18903 chr14 94394792 94394792 G A rs139972787 FAM181A Nonsynonymous SNV R54Q 0.022 0.023 0.02 5 26 9 0.013 6 0 0 1 0 32 18904 chr16 88809894 88809894 G C rs9933846 LOC339059 0 0 0.66 0 0 0 0 194 0 0 67 0 1.543 18905 chr4 106580340 106580340 A G rs13147012 ARHGEF38 Nonsynonymous SNV T455A 0.32 0.302 0.282 138 376 116 0.354 83 61 16 10 22 0.226 18906 chr15 43748712 43748712 C T rs1802434 TP53BP1 Synonymous SNV L698L 0.011 0.008 0 0 13 3 0 0 0 0 0 0 10.14 18907 chr16 88810129 88810129 A G rs8053135 LOC339059 0 0 0.912 0 0 0 0 268 0 0 123 0 2.768 18908 chr16 88870967 88870967 T C rs475667 CDT1 Synonymous SNV S81S 0.134 0.146 0.156 62 157 56 0.159 46 14 8 2 6 Benign 4.522 18909 chr16 88872145 88872145 T C rs507329 CDT1 Nonsynonymous SNV C234R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.681 18910 chr4 106604190 106604190 A G rs35370743 INTS12 Synonymous SNV P363P 0.11 0.091 0.082 40 129 35 0.103 24 5 0 0 0 8.705 18911 chr4 56756531 56756531 T C rs2290016 EXOC1 Synonymous SNV A491A 0.273 0.286 0.252 115 320 110 0.295 74 45 13 5 10 6.835 18912 chr4 106604364 106604364 A G rs34072732 INTS12 Synonymous SNV P305P 0.111 0.096 0.082 40 130 37 0.103 24 5 0 0 0 9.208 18913 chr16 88872229 88872229 A G rs480727 CDT1 Nonsynonymous SNV T262A 0.515 0.484 0.531 186 605 186 0.477 156 164 53 40 50 Benign 0.007 18914 chr4 106859549 106859549 G C rs35132891 NPNT Nonsynonymous SNV Q159H 0.449 0.417 0.435 175 527 160 0.449 128 111 32 23 44 16.53 18915 chr16 88872511 88872511 T C rs510862 CDT1 Synonymous SNV H305H 0.854 0.852 0.854 323 1003 327 0.828 251 428 141 107 138 Benign 0.004 18916 chr15 28422609 28422609 C T rs61756153 HERC2 Synonymous SNV S3070S 0.157 0.148 0.177 58 184 57 0.149 52 20 5 8 3 19.09 18917 chr4 106861730 106861730 A G rs4340795 NPNT Nonsynonymous SNV I234V 0.933 0.935 0.915 369 1095 359 0.946 269 512 169 122 174 0.003 18918 chr15 45047134 45047134 G A rs2470911 TRIM69 Nonsynonymous SNV D15N 0.725 0.695 0.66 278 851 267 0.713 194 309 90 67 100 0.069 18919 chr16 88874632 88874632 C G rs572275 CDT1 Synonymous SNV L529L 0.495 0.466 0.493 169 581 179 0.433 145 147 50 37 41 Benign 9.007 18920 chr16 88884466 88884466 C T rs2303271 GALNS Synonymous SNV E292E 0.416 0.383 0.442 147 488 147 0.377 130 104 29 33 27 Benign 14.14 18921 chr16 88891240 88891240 C A rs2303269 GALNS Nonsynonymous SNV A208S 0.038 0.036 0.088 28 45 14 0.072 26 1 0 0 1 Benign/Likely benign 11.07 18922 chr15 45047573 45047573 C T rs3100139 TRIM69 Nonsynonymous SNV T161M 0.865 0.857 0.813 329 1015 329 0.844 239 442 139 102 141 10.31 18923 chr4 106924931 106924931 G A rs17258724 LOC101929577 0.359 0.37 0.361 130 422 142 0.333 106 75 33 19 24 5.249 18924 chr4 107168431 107168431 G C rs3775091 TBCK Nonsynonymous SNV Q203E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.128 18925 chr15 41672384 41672384 A G rs7168431 NUSAP1 Synonymous SNV X379X 0.239 0.258 0.211 103 281 99 0.264 62 28 10 10 14 2.285 18926 chr16 88901673 88901673 G A rs35232749 GALNS Synonymous SNV F97F 0.035 0.036 0.078 20 41 14 0.051 23 1 1 0 0 Benign/Likely benign 9.441 18927 chr15 45387776 45387776 C T rs150609056 DUOX2 Synonymous SNV P1366P 0.01 0.008 0 0 12 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.07 18928 chr16 88904086 88904086 A G rs3743544 GALNS Synonymous SNV Y170Y 0.035 0.036 0.075 20 41 14 0.051 22 1 1 0 0 Benign/Likely benign 0.83 18929 chr15 41689166 41689166 C A rs3204853 NDUFAF1 Nonsynonymous SNV R31L 0.239 0.258 0.201 104 280 99 0.267 59 27 10 10 14 Benign 11.86 18930 chr4 108641300 108641300 T C rs973126 PAPSS1 Synonymous SNV K12K 0.898 0.898 0.891 358 1054 345 0.918 262 475 155 118 166 13.35 18931 chr16 88926089 88926089 C T rs71395334 TRAPPC2L Synonymous SNV N75N 0.013 0.013 0.034 8 15 5 0.021 10 0 0 0 0 8.251 18932 chr15 42139642 42139642 C T rs883329 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV S685S 0.123 0.112 0.095 54 144 43 0.138 28 7 1 3 4 11.45 18933 chr4 108641317 108641317 G A rs1127006 PAPSS1 Synonymous SNV L7L 0.637 0.664 0.622 256 748 255 0.656 183 229 86 62 84 14.9 18934 chr16 88931274 88931274 C T rs76267236 PABPN1L Nonsynonymous SNV G214D 0.043 0.049 0.051 19 51 19 0.049 15 2 1 0 0 24 18935 chr4 108931039 108931039 T C rs4956145 HADH Nonsynonymous SNV L86P 0.94 0.951 0.932 364 1103 365 0.933 274 521 174 128 169 Benign 10.8 18936 chr15 41689232 41689232 C T rs1899 NDUFAF1 Nonsynonymous SNV R9H 0.212 0.227 0.184 98 249 87 0.251 54 27 10 10 14 Benign 9.459 18937 chr16 89016884 89016884 C T rs12924185 LOC100129697 Nonsynonymous SNV R120W 0.411 0.432 0.354 152 483 166 0.39 104 119 45 24 34 12.21 18938 chr16 89017386 89017386 T C rs200833298 LOC100129697 Nonsynonymous SNV V287A 0.018 0.023 0.024 1 21 9 0.003 7 0 1 0 0 0.068 18939 chr4 110603784 110603784 T C rs3733611 MCUB Synonymous SNV S166S 0.637 0.625 0.619 229 748 240 0.587 182 232 78 55 71 0.049 18940 chr15 100252892 100252892 A G rs34851361 MEF2A Synonymous SNV P402P 0.062 0.065 0.065 20 73 25 0.051 19 2 1 0 1 0.006 18941 chr4 110605744 110605744 A T rs13846 MCUB Nonsynonymous SNV Y253F 0.296 0.326 0.276 100 347 125 0.256 81 43 18 16 14 23.6 18942 chr16 89167094 89167094 T C rs7188200 ACSF3 Nonsynonymous SNV L2P 0.739 0.74 0.752 293 868 284 0.751 221 320 109 87 109 Benign 0.005 18943 chr15 30026582 30026582 T C rs2229517 TJP1 Nonsynonymous SNV N471S 0.01 0.013 0.014 1 12 5 0.003 4 0 0 0 0 Benign 21.9 18944 chr15 45444518 45444518 A G rs1706804 DUOX1 Synonymous SNV T1076T 0.644 0.672 0.639 245 756 258 0.628 188 238 79 63 75 2.982 18945 chr15 42149506 42149506 G C rs12442525 SPTBN5 Nonsynonymous SNV Q2851E 0.445 0.438 0.378 176 523 168 0.451 111 129 37 31 41 20.3 18946 chr4 110638810 110638810 C T rs2285714 PLA2G12A Synonymous SNV E115E 0.365 0.388 0.327 117 429 149 0.3 96 75 22 18 16 18.28 18947 chr15 41819367 41819367 T C rs11630901 RPAP1 Nonsynonymous SNV R582G 0.197 0.182 0.207 70 231 70 0.179 61 23 11 5 3 23.1 18948 chr16 89167140 89167140 G C rs7201122 ACSF3 Synonymous SNV A17A 0.859 0.854 0.871 320 1009 328 0.821 256 435 141 113 130 Benign 7.424 18949 chr15 45446156 45446156 C T rs2458236 DUOX1 Nonsynonymous SNV L1178F 0.643 0.672 0.629 245 755 258 0.628 185 237 79 62 75 20.5 18950 chr16 89167395 89167395 C T rs6500526 ACSF3 Synonymous SNV C102C 0.74 0.742 0.759 294 869 285 0.754 223 319 111 85 109 Benign 8.95 18951 chr4 110678925 110678925 T C rs11098044 CFI Nonsynonymous SNV T300A 0.837 0.836 0.622 341 983 321 0.874 183 491 160 91 170 0.002 18952 chr16 89167404 89167404 T C rs7193255 ACSF3 Synonymous SNV D105D 0.74 0.745 0.759 294 869 286 0.754 223 319 111 85 109 Benign 0.146 18953 chr15 31218072 31218072 C T rs143461130 FAN1 Synonymous SNV D806D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 3.01 18954 chr16 89167431 89167431 G C rs6500527 ACSF3 Synonymous SNV A114A 0.74 0.747 0.759 294 869 287 0.754 223 319 112 85 109 Benign 7.014 18955 chr4 110737389 110737389 T C rs2276326 GAR1 Synonymous SNV G23G 0.722 0.693 0.728 272 848 266 0.697 214 316 93 81 95 2.539 18956 chr16 89167443 89167443 T C rs6500528 ACSF3 Synonymous SNV S118S 0.74 0.747 0.762 294 869 287 0.754 224 319 112 86 109 Benign 0.206 18957 chr4 110773067 110773067 G A rs4698797 LRIT3 Nonsynonymous SNV S175N 0.597 0.578 0.626 230 701 222 0.59 184 216 65 62 65 Benign 24.2 18958 chr4 57796900 57796900 G A rs2228991 REST Nonsynonymous SNV V626I 0.022 0.018 0.017 11 26 7 0.028 5 0 0 0 1 0.208 18959 chr16 89167458 89167458 C A rs6500529 ACSF3 Synonymous SNV V123V 0.739 0.74 0.759 294 868 284 0.754 223 318 109 85 109 Benign 11.28 18960 chr15 41277551 41277551 T C rs61757083 INO80 Synonymous SNV E1302E 0.013 0.008 0.01 2 15 3 0.005 3 0 0 0 0 Benign 4.895 18961 chr4 57798174 57798174 C G rs3796528 REST Synonymous SNV A1050A 0.022 0.018 0.017 11 26 7 0.028 5 0 0 0 1 5.34 18962 chr16 89180883 89180883 G A rs3743979 ACSF3 Nonsynonymous SNV V107M 0.767 0.781 0.759 300 900 300 0.769 223 341 122 87 114 20.2 18963 chr15 42154738 42154738 G A rs16972193 SPTBN5 Nonsynonymous SNV R2462W 0.119 0.099 0.082 53 140 38 0.136 24 8 2 2 7 21.9 18964 chr4 110790911 110790911 A T rs764205 LRIT3 Nonsynonymous SNV M336L 0.595 0.578 0.626 230 698 222 0.59 184 216 65 62 65 Benign 13.15 18965 chr4 57830663 57830663 T C rs17087307 NOA1 Synonymous SNV A598A 0.021 0.018 0.017 10 25 7 0.026 5 0 0 0 1 10.22 18966 chr15 30018627 30018627 T C rs2229515 TJP1 Nonsynonymous SNV I790V 0.114 0.104 0.122 47 134 40 0.121 36 8 3 5 3 24 18967 chr16 89199651 89199651 G A rs12447947 ACSF3 Synonymous SNV L184L 0.434 0.456 0.398 196 509 175 0.503 117 106 41 20 53 4.606 18968 chr4 110883121 110883121 G A rs11568943 EGF Nonsynonymous SNV R389K 0.06 0.081 0.088 31 70 31 0.079 26 3 2 4 3 Benign 0.126 18969 chr15 42166500 42166500 C T rs12593397 SPTBN5 Nonsynonymous SNV R1560H 0.444 0.409 0.378 171 521 157 0.438 111 119 30 24 36 0.592 18970 chr16 89256695 89256695 G A rs72819366 CDH15 Synonymous SNV S341S 0.215 0.227 0.204 69 252 87 0.177 60 23 12 5 9 Likely benign 1.568 18971 chr4 57843295 57843295 C A rs3733306 NOA1 Nonsynonymous SNV A153S 0.02 0.018 0.01 10 24 7 0.026 3 0 0 0 1 16.72 18972 chr16 89258747 89258747 A C rs75791347 CDH15 Nonsynonymous SNV K584Q 0.406 0.414 0.415 123 477 159 0.315 122 96 33 29 19 Benign 0.017 18973 chr15 48053229 48053229 C A rs501916 SEMA6D Synonymous SNV P92P 0.296 0.37 0.323 112 348 142 0.287 95 50 29 16 16 9.219 18974 chr15 42166645 42166645 G T rs61753617 SPTBN5 Synonymous SNV R1512R 0.081 0.06 0.044 23 95 23 0.059 13 4 0 0 0 3.813 18975 chr4 110901198 110901198 G A rs2237051 EGF Nonsynonymous SNV M666I 0.411 0.432 0.401 163 482 166 0.418 118 101 34 24 31 Benign 6.634 18976 chr15 48056958 48056958 C T rs3743281 SEMA6D Synonymous SNV A407A 0.205 0.245 0.214 84 241 94 0.215 63 27 12 5 13 19.42 18977 chr16 89259993 89259993 A G rs3815615 CDH15 Synonymous SNV Q657Q 0.422 0.422 0.391 133 496 162 0.341 115 99 33 29 21 Likely benign 7.042 18978 chr15 48058071 48058071 G A rs532598 SEMA6D Nonsynonymous SNV S478N 0.319 0.31 0.384 116 374 119 0.297 113 57 18 18 17 0.004 18979 chr16 89265087 89265087 A G rs61732365 SLC22A31 Nonsynonymous SNV S173P 0.348 0.336 0.378 97 408 129 0.249 111 63 21 20 13 1.716 18980 chr4 110902111 110902111 A T rs11569017 EGF Nonsynonymous SNV D742V 0.04 0.039 0.061 25 47 15 0.064 18 1 0 1 2 Likely benign 11.3 18981 chr15 42032383 42032383 C G rs17677991 MGA Nonsynonymous SNV P1523A 0.365 0.336 0.31 134 428 129 0.344 91 86 23 14 23 18.03 18982 chr16 89265100 89265100 G A rs61732366 SLC22A31 Synonymous SNV G168G 0.158 0.159 0.163 42 185 61 0.108 48 11 5 3 4 4.611 18983 chr15 41679685 41679685 G C rs12900702 NDUFAF1 Nonsynonymous SNV A314G 0.164 0.141 0.163 56 192 54 0.144 48 17 6 4 3 Benign 29.8 18984 chr16 89265101 89265101 C T rs74640353 SLC22A31 Nonsynonymous SNV G168D 0.348 0.336 0.364 97 409 129 0.249 107 63 21 20 13 0.308 18985 chr15 48063076 48063076 T C rs568215 SEMA6D Synonymous SNV P710P 0.566 0.609 0.663 213 665 234 0.546 195 189 71 66 56 0.005 18986 chr15 31294654 31294654 C T rs3784588 TRPM1 Nonsynonymous SNV V1434I 0.075 0.068 0.082 27 88 26 0.069 24 5 0 1 0 Likely benign 0.018 18987 chr16 89265466 89265466 A G rs12926888 SLC22A31 Synonymous SNV G121G 0.359 0.352 0.405 100 421 135 0.256 119 69 22 24 14 0.022 18988 chr15 33091079 33091079 A G rs7162695 FMN1 Synonymous SNV F1129F 0.197 0.167 0.187 62 231 64 0.159 55 18 4 8 4 0.037 18989 chr4 110914427 110914427 A T rs4698803 EGF Nonsynonymous SNV E797V 0.817 0.867 0.799 332 959 333 0.851 235 388 145 92 144 Benign 0.019 18990 chr16 89291210 89291210 - GTGA rs10625512 ZNF778 Frameshift insertion E110Gfs*6 0.875 0.904 0.878 344 1027 347 0.882 258 451 155 114 153 18991 chr15 41679717 41679717 C T rs73407109 NDUFAF1 Synonymous SNV V303V 0.041 0.039 0.065 14 48 15 0.036 19 0 0 1 1 Likely benign 11.51 18992 chr15 42042301 42042301 T A rs368970291 MGA Nonsynonymous SNV S1957T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 5.071 18993 chr16 89293271 89293271 A C rs28417933 ZNF778 Nonsynonymous SNV K164T 0.866 0.898 0.854 342 1017 345 0.877 251 443 153 108 151 3.729 18994 chr15 41805237 41805237 C T rs2305030 LTK Nonsynonymous SNV R42Q 0.066 0.109 0.085 35 78 42 0.09 25 2 1 1 3 0.113 18995 chr4 113199075 113199075 A G rs701759 TIFA Synonymous SNV Y166Y 0.553 0.552 0.544 219 649 212 0.562 160 187 66 50 59 0.011 18996 chr14 95786115 95786115 C T rs80288032 CLMN Synonymous SNV E5E 0.017 0.008 0.02 8 20 3 0.021 6 0 0 0 0 14.21 18997 chr16 89293614 89293614 A G rs4785626 ZNF778 Synonymous SNV E278E 0.876 0.904 0.878 344 1028 347 0.882 258 451 155 114 153 0.213 18998 chr15 33359431 33359431 C T rs370387950 FMN1 Nonsynonymous SNV A219T 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 0.031 18999 chr4 113436044 113436044 T G rs901474 NEUROG2 Synonymous SNV G196G 0.868 0.865 0.793 331 1019 332 0.849 233 445 144 104 144 0.008 19000 chr16 89294184 89294184 G A rs4785627 ZNF778 Synonymous SNV A468A 0.872 0.901 0.874 343 1024 346 0.879 257 448 155 113 152 11.91 19001 chr4 113506711 113506711 C T rs76187047 ZGRF1 Nonsynonymous SNV E1305K 0.015 0.016 0.024 3 18 6 0.008 7 0 0 0 0 Likely pathogenic 35 19002 chr16 89294381 89294381 T C rs28415940 ZNF778 Nonsynonymous SNV I534T 0.869 0.901 0.857 342 1020 346 0.877 252 444 154 108 151 13.27 19003 chr4 66509085 66509085 T G rs33932471 EPHA5 Nonsynonymous SNV N81T 0.074 0.078 0.082 59 87 30 0.151 24 4 2 1 1 24.2 19004 chr15 42115747 42115747 G C rs3959569 MAPKBP1 Nonsynonymous SNV R1234P 0.35 0.318 0.299 128 411 122 0.328 88 84 20 15 22 0.56 19005 chr16 89294439 89294439 G T rs9921361 ZNF778 Nonsynonymous SNV Q553H 0.869 0.901 0.857 342 1020 346 0.877 252 444 154 108 151 23.7 19006 chr4 113539969 113539969 T C rs7696816 ZGRF1 Nonsynonymous SNV N410S 0.421 0.456 0.35 152 494 175 0.39 103 103 36 20 23 0.001 19007 chr15 42342818 42342818 G A rs1668545 PLA2G4E Synonymous SNV G28G 0.062 0.052 0.061 27 73 20 0.069 18 3 0 3 1 4.736 19008 chr15 48797307 48797307 A G rs25458 FBN1 Synonymous SNV N625N 0.087 0.094 0.112 32 102 36 0.082 33 3 2 3 1 Benign 7.344 19009 chr15 42342824 42342824 T G rs1668546 PLA2G4E Nonsynonymous SNV E26D 0.062 0.052 0.061 27 73 20 0.069 18 3 0 3 1 11.67 19010 chr16 89294511 89294511 C T rs28638280 ZNF778 Synonymous SNV T577T 0.876 0.904 0.878 344 1028 347 0.882 258 451 155 114 153 17.02 19011 chr4 113544993 113544993 G T rs61745597 ZGRF1 Nonsynonymous SNV L48M 0.012 0.013 0.02 2 14 5 0.005 6 0 0 0 0 Likely pathogenic 2.373 19012 chr16 89294697 89294697 C T rs60437616 ZNF778 Synonymous SNV H639H 0.871 0.901 0.857 343 1022 346 0.879 252 445 154 108 152 10.5 19013 chr15 41820200 41820200 C T rs2289741 RPAP1 Nonsynonymous SNV R429Q 0.036 0.055 0.027 17 42 21 0.044 8 0 0 0 1 9.704 19014 chr16 89350038 89350038 G A rs2279348 ANKRD11 Nonsynonymous SNV A971V 0.744 0.729 0.735 298 873 280 0.764 216 321 105 76 115 Benign 3.439 19015 chr15 42371752 42371752 A T rs4924618 PLA2G4D Nonsynonymous SNV S434T 0.282 0.328 0.248 131 331 126 0.336 73 47 20 17 24 13.42 19016 chr4 114213631 114213631 C T rs29341 ANK2 Synonymous SNV V709V 0.025 0.039 0.02 12 29 15 0.031 6 2 0 0 0 Benign/Likely benign 20.1 19017 chr15 49285001 49285001 G C rs34895054 SECISBP2L Nonsynonymous SNV P871A 0.289 0.323 0.241 108 339 124 0.277 71 38 23 7 15 0.022 19018 chr4 114275243 114275243 C T rs33966911 ANK2 Synonymous SNV P1823P 0.126 0.156 0.19 62 148 60 0.159 56 8 4 7 4 Benign 12.31 19019 chr16 89350178 89350178 G A rs2279349 ANKRD11 Synonymous SNV T924T 0.859 0.841 0.895 355 1009 323 0.91 263 432 139 116 162 0.169 19020 chr15 49325289 49325289 A C rs11638215 SECISBP2L Synonymous SNV L179L 0.577 0.602 0.599 223 677 231 0.572 176 189 71 53 69 0.01 19021 chr16 8948974 8948974 T C rs6898 LOC100130283 0.937 0.948 0.922 371 1100 364 0.951 271 516 173 124 176 5.772 19022 chr4 114276880 114276880 T C rs28377576 ANK2 Nonsynonymous SNV V2369A 0.141 0.164 0.214 67 166 63 0.172 63 10 4 8 5 Benign/Likely benign 0.001 19023 chr15 49429410 49429410 A G rs17473148 COPS2 Synonymous SNV Y166Y 0.233 0.279 0.156 86 273 107 0.221 46 21 14 3 8 0.525 19024 chr16 8952248 8952248 A G rs988065 CARHSP1 Synonymous SNV T80T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.35 19025 chr15 49620200 49620200 C T rs1055254 GALK2 Synonymous SNV C396C 0.256 0.294 0.18 96 301 113 0.246 53 27 19 5 9 12.37 19026 chr16 8953081 8953081 C G rs8097 CARHSP1 Synonymous SNV R35R 0.639 0.669 0.609 256 750 257 0.656 179 241 83 51 86 13.71 19027 chr4 114276884 114276884 A G rs3733615 ANK2 Synonymous SNV Q2370Q 0.204 0.232 0.272 81 239 89 0.208 80 22 9 9 5 Benign 0.002 19028 chr16 89628073 89628073 G A rs9930567 RPL13 Nonsynonymous SNV A112T 0.246 0.201 0.201 103 289 77 0.264 59 36 7 4 12 22.5 19029 chr15 42434824 42434824 C T rs28674123 PLA2G4F Nonsynonymous SNV R744H 0.026 0.034 0.044 15 31 13 0.038 13 2 0 0 0 20.8 19030 chr4 114279422 114279422 A G rs10013743 ANK2 Synonymous SNV E3216E 0.14 0.164 0.214 67 164 63 0.172 63 10 4 8 5 Benign 0.004 19031 chr15 50212572 50212572 G T rs72733094 ATP8B4 Synonymous SNV I598I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 7.227 19032 chr16 89777761 89777761 C T rs12920315 VPS9D1 Synonymous SNV V269V 0.507 0.482 0.524 214 595 185 0.549 154 149 49 45 56 14.05 19033 chr4 114294308 114294308 T C rs2293324 ANK2 Synonymous SNV H982H 0.193 0.227 0.252 77 227 87 0.197 74 20 10 8 4 Benign 0.06 19034 chr16 89782989 89782989 A G rs7206570 VPS9D1 Synonymous SNV I104I 0.96 0.951 0.942 380 1127 365 0.974 277 540 175 131 185 2.328 19035 chr4 115544714 115544714 A G rs6851610 UGT8 Synonymous SNV P226P 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.237 19036 chr15 50474900 50474900 C T rs34490804 SLC27A2 Synonymous SNV A92A 0.116 0.135 0.126 64 136 52 0.164 37 9 7 5 7 21.4 19037 chr16 89783187 89783187 C T rs4785706 VPS9D1 Synonymous SNV K73K 0.989 0.995 0.986 387 1161 382 0.992 290 574 190 144 192 14.92 19038 chr16 89784398 89784398 C G rs4785707 VPS9D1-AS1 0 0 0.075 0 0 0 0 22 0 0 1 0 0.644 19039 chr4 115589302 115589302 A G rs11098261 UGT8 Nonsynonymous SNV I368M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.103 19040 chr15 50555544 50555544 G A rs17740607 HDC Nonsynonymous SNV T31M 0.104 0.104 0.119 71 122 40 0.182 35 7 4 5 7 15.4 19041 chr16 89784521 89784521 T A rs10468304 VPS9D1-AS1 0 0 0.986 0 0 0 0 290 0 0 144 0 3.605 19042 chr16 89789898 89789898 T C rs6500437 ZNF276 Nonsynonymous SNV W263R 0.25 0.206 0.241 89 293 79 0.228 71 42 12 12 14 10.88 19043 chr4 119059289 119059289 T C rs10028980 NDST3 Synonymous SNV Y435Y 0.01 0.008 0.027 2 12 3 0.005 8 0 0 0 0 0.146 19044 chr4 119161795 119161795 G A rs617430 NDST3 Synonymous SNV P745P 0.411 0.482 0.456 180 482 185 0.462 134 93 45 30 41 8.802 19045 chr15 42565588 42565588 C A rs2277533 TMEM87A Synonymous SNV A3A 0.106 0.107 0.088 31 124 41 0.079 26 5 2 3 0 22.8 19046 chr16 89866043 89866043 T C rs7190823 FANCA Nonsynonymous SNV T234A 0.331 0.273 0.306 108 389 105 0.277 90 70 18 17 16 Benign 0.003 19047 chr4 119237348 119237348 T C rs2292597 PRSS12 Synonymous SNV Q427Q 0.525 0.466 0.49 191 616 179 0.49 144 155 41 32 45 Benign 5.271 19048 chr4 68956357 68956357 C T TMPRSS11F Nonsynonymous SNV D56N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 18.94 19049 chr4 119273712 119273712 C G rs13119545 PRSS12 Nonsynonymous SNV R55T 0.679 0.701 0.721 287 797 269 0.736 212 276 94 75 107 Benign 14.18 19050 chr16 89985844 89985844 G T rs1805005 MC1R Nonsynonymous SNV V60L 0.152 0.164 0.204 55 178 63 0.141 60 11 4 7 3 Benign 18.93 19051 chr15 50888568 50888568 A G rs543821 TRPM7 Synonymous SNV N1058N 0.12 0.102 0.119 39 141 39 0.1 35 9 3 2 3 0.825 19052 chr16 89986117 89986117 C T rs1805007 MC1R Nonsynonymous SNV R151C 0.035 0.023 0.031 13 41 9 0.033 9 1 0 0 0 Conflicting interpretations of pathogenicity 34 19053 chr4 119659518 119659518 G A rs1128403 SEC24D Synonymous SNV L799L 0.012 0.026 0.01 8 14 10 0.021 3 0 0 0 0 9.379 19054 chr4 119736796 119736796 A C rs2389688 SEC24D Synonymous SNV P161P 0.421 0.375 0.432 163 494 144 0.418 127 92 31 27 34 Benign 0.005 19055 chr16 90037828 90037828 G A rs4785755 CENPBD1 Nonsynonymous SNV T168I 0.691 0.688 0.721 253 811 264 0.649 212 280 91 80 86 15.37 19056 chr4 119944611 119944611 G T rs1459058 SYNPO2 Synonymous SNV G44G 0.478 0.432 0.442 182 561 166 0.467 130 133 33 28 40 11.61 19057 chr14 99641724 99641724 C T rs764427299 BCL11B Synonymous SNV S411S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.65 19058 chr15 51507968 51507968 G A rs700519 CYP19A1 Nonsynonymous SNV R264C 0.028 0.023 0.034 11 33 9 0.028 10 0 0 0 0 Benign/Likely benign 24.5 19059 chr16 90102835 90102835 A G rs868045 GAS8 Synonymous SNV E7E 0.367 0.336 0.418 143 431 129 0.367 123 75 25 29 25 Benign 1.24 19060 chr4 119947962 119947964 AAG - rs70944826 SYNPO2 R147del 0.385 0.398 0.35 138 452 153 0.354 103 87 32 13 24 19061 chr15 42148736 42148736 A G rs61733880 SPTBN5 Nonsynonymous SNV Y2957H 0.026 0.021 0.031 14 30 8 0.036 9 0 0 0 0 9.037 19062 chr16 90109372 90109372 C T rs2241033 URAHP 0 0 0.687 0 0 0 0 202 0 0 73 0 0.129 19063 chr4 119951595 119951595 C T rs376922988 SYNPO2 Synonymous SNV I555I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.967 19064 chr16 90109711 90109711 A G rs3743825 GAS8 Synonymous SNV T273T 0.66 0.701 0.694 256 775 269 0.656 204 256 91 71 84 Benign 0.142 19065 chr15 43170793 43170793 A G rs6493068 TTBK2 Nonsynonymous SNV L8P 0.327 0.354 0.303 114 384 136 0.292 89 59 25 13 13 Benign 13.72 19066 chr4 119951647 119951647 A G rs7698598 SYNPO2 Nonsynonymous SNV T573A 0.888 0.883 0.884 347 1042 339 0.89 260 461 149 115 152 0.001 19067 chr15 34656461 34656461 C T rs367598848 LPCAT4 Synonymous SNV P175P 0.008 0.005 0 0 9 2 0 0 0 0 0 0 15.17 19068 chr16 90109756 90109756 - C rs3833069 URAHP 0.256 0.286 0.235 95 300 110 0.244 69 37 11 10 17 19069 chr15 35045276 35045276 G A rs35174018 GJD2 Synonymous SNV S123S 0.084 0.065 0.085 28 99 25 0.072 25 3 1 0 0 2.945 19070 chr16 90110027 90110027 G A rs3743824 URAHP 0 0 0.252 0 0 0 0 74 0 0 9 0 2.345 19071 chr15 43426123 43426123 C G rs573311291 TMEM62 Synonymous SNV P41P 0.025 0.021 0.003 3 29 8 0.008 1 1 0 0 0 6.859 19072 chr4 119952955 119952955 C T rs61732241 SYNPO2 Nonsynonymous SNV R1009W 0.148 0.154 0.122 45 174 59 0.115 36 11 5 2 4 21.2 19073 chr15 43545728 43545728 G A rs555001 TGM5 Synonymous SNV Y138Y 0.348 0.396 0.364 139 408 152 0.356 107 75 27 17 26 Benign 6.225 19074 chr16 90110289 90110289 C A rs1048148 URAHP 0 0 0.252 0 0 0 0 74 0 0 9 0 7.11 19075 chr15 43571390 43571390 C G rs567357 TGM7 Synonymous SNV A588A 0.352 0.401 0.384 144 413 154 0.369 113 77 27 21 26 12.46 19076 chr15 51829812 51829812 G A rs17524906 DMXL2 Nonsynonymous SNV T497M 0.263 0.294 0.259 89 309 113 0.228 76 35 15 8 9 12.26 19077 chr4 120214030 120214030 T G rs3749591 USP53 Nonsynonymous SNV S911R 0.329 0.354 0.276 121 386 136 0.31 81 70 30 8 21 12.16 19078 chr15 35198879 35198879 G A rs80093103 AQR Synonymous SNV T566T 0.066 0.076 0.065 23 78 29 0.059 19 4 0 1 1 15.42 19079 chr15 43579566 43579566 A G rs513970 TGM7 Synonymous SNV S259S 0.349 0.398 0.384 144 410 153 0.369 113 75 27 21 26 0.021 19080 chr16 90110950 90110950 C T rs1048149 URAHP 0 0 0.153 0 0 0 0 45 0 0 2 0 14.25 19081 chr15 51868373 51868373 A G rs2414105 DMXL2 Synonymous SNV Y31Y 0.409 0.409 0.337 167 480 157 0.428 99 91 35 29 34 0.213 19082 chr4 120240238 120240238 T C rs1511025 FABP2 Synonymous SNV V119V 0.353 0.378 0.276 136 414 145 0.349 81 80 30 10 25 0.047 19083 chr15 42162467 42162467 G A rs61750839 SPTBN5 Stop gain R1883X 0.021 0.013 0.031 12 25 5 0.031 9 2 0 0 0 35 19084 chr15 43632549 43632549 T C rs2278857 ADAL Synonymous SNV T114T 0.331 0.372 0.347 140 389 143 0.359 102 71 24 18 24 10.54 19085 chr16 9030444 9030444 C G rs1382390 USP7 Synonymous SNV L9L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.441 19086 chr15 42162713 42162713 G A rs61753871 SPTBN5 Synonymous SNV H1831H 0.021 0.013 0.031 12 25 5 0.031 9 2 0 0 0 5.248 19087 chr15 43653322 43653322 G A rs35278805 ZSCAN29 Synonymous SNV H836H 0.16 0.219 0.187 80 188 84 0.205 55 14 8 7 5 7.944 19088 chr4 120241849 120241849 A G rs4834770 FABP2 Synonymous SNV N72N 0.606 0.578 0.425 228 712 222 0.585 125 211 63 44 69 0.005 19089 chr16 961051 961051 C T rs2277893 LMF1 Synonymous SNV G72G 0.201 0.174 0.197 75 236 67 0.192 58 28 7 1 8 9.512 19090 chr15 43653649 43653649 G A rs62019445 ZSCAN29 Synonymous SNV I727I 0.072 0.091 0.075 34 84 35 0.087 22 5 0 1 0 8.918 19091 chr15 52233754 52233754 C T rs2470612 LEO1 Stop gain W646X 0.411 0.406 0 175 483 156 0.449 0 94 30 0 39 3.428 19092 chr4 70455231 70455231 G A rs41292305 UGT2A1, UGT2A2 Synonymous SNV L446L 0.065 0.076 0.065 34 76 29 0.087 19 1 2 0 2 5.345 19093 chr4 120241902 120241902 T C rs1799883 FABP2 Nonsynonymous SNV T55A 0.775 0.779 0.677 291 910 299 0.746 199 350 121 75 111 Benign 6.56 19094 chr16 961054 961054 C T rs2277892 LMF1 Synonymous SNV T71T 0.105 0.091 0.129 33 123 35 0.085 38 10 2 1 2 10.28 19095 chr15 43658935 43658935 C T rs3917221 ZSCAN29 Nonsynonymous SNV G199S 0.16 0.219 0.19 80 188 84 0.205 56 14 8 7 5 13.78 19096 chr4 70512787 70512787 A T rs111696697 UGT2A1 Stop gain Y192X 0.067 0.083 0.071 36 79 32 0.092 21 3 3 0 2 Likely benign 35 19097 chr16 984113 984113 C A rs11248955 LMF1-AS1 0.261 0.255 0.248 103 306 98 0.264 73 37 12 6 15 6.515 19098 chr17 10297658 10297658 A G rs8069834 MYH8 Nonsynonymous SNV W1692R 0.58 0.539 0.558 222 681 207 0.569 164 190 55 50 60 Benign 7.971 19099 chr4 120474859 120474859 A G rs11947234 PDE5A Synonymous SNV Y414Y 0.305 0.349 0.241 119 358 134 0.305 71 61 30 5 22 0.447 19100 chr15 43661802 43661802 T C rs3809482 ZSCAN29 Nonsynonymous SNV R104G 0.331 0.378 0.344 140 389 145 0.359 101 72 24 19 24 13.51 19101 chr15 42171654 42171654 G A rs56379301 SPTBN5 Synonymous SNV L996L 0.021 0.013 0.031 12 25 5 0.031 9 2 0 0 0 2.25 19102 chr4 120528327 120528327 G A rs3733526 PDE5A Nonsynonymous SNV A93V 0.821 0.794 0.816 319 964 305 0.818 240 393 122 100 130 11.21 19103 chr15 42171655 42171655 C A rs55637254 SPTBN5 Nonsynonymous SNV Q995H 0.021 0.013 0.031 12 25 5 0.031 9 2 0 0 0 12.14 19104 chr17 10304261 10304261 G A rs3744552 MYH8 Synonymous SNV I1090I 0.578 0.536 0.544 221 679 206 0.567 160 190 55 49 60 Benign 4.846 19105 chr15 40462846 40462846 T C rs28989189 BUB1B Synonymous SNV Y116Y 0.014 0.018 0.031 11 16 7 0.028 9 0 0 0 0 Benign/Likely benign 0.665 19106 chr15 43707808 43707808 A T rs2230451 TP53BP1 Synonymous SNV S1691S 0.162 0.221 0.19 83 190 85 0.213 56 14 8 7 6 4.09 19107 chr15 22853832 22853832 G A rs151164554 TUBGCP5 Synonymous SNV R490R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.04 19108 chr17 10318636 10318636 A G rs8068729 MYH8 Synonymous SNV T238T 0.897 0.909 0.918 350 1053 349 0.897 270 474 158 124 156 Benign 0.012 19109 chr4 121706201 121706201 A G rs12499000 PRDM5 Synonymous SNV L381L 0.279 0.247 0.248 114 327 95 0.292 73 43 9 11 22 Benign 8.327 19110 chr15 43724646 43724646 T G rs2602141 TP53BP1 Nonsynonymous SNV K1141Q 0.335 0.38 0.35 140 393 146 0.359 103 73 25 19 23 12.43 19111 chr4 71115053 71115053 T A rs3775740 CSN3 Synonymous SNV P142P 0.05 0.06 0.061 44 59 23 0.113 18 3 1 0 2 7.04 19112 chr17 10415840 10415840 A G rs2007027 MYH1 Synonymous SNV F344F 0.917 0.922 0.929 363 1076 354 0.931 273 494 163 126 168 0.009 19113 chr4 121738049 121738049 T C rs343192 PRDM5 Synonymous SNV L227L 0.36 0.307 0.347 142 423 118 0.364 102 81 11 21 28 Benign 9.54 19114 chr15 42442823 42442823 G C rs73403546 PLA2G4F Nonsynonymous SNV L252V 0.05 0.049 0.065 29 59 19 0.074 19 2 0 0 1 0.002 19115 chr15 42192885 42192885 G A rs113393602 EHD4 Synonymous SNV L528L 0.028 0.018 0.041 13 33 7 0.033 12 2 0 2 0 10.83 19116 chr4 71115152 71115152 T C rs3775738 CSN3 Synonymous SNV V175V 0.366 0.396 0.361 140 430 152 0.359 106 74 26 21 23 0.577 19117 chr17 10433266 10433266 C A rs138206136 MYH2 Nonsynonymous SNV E941D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.3 19118 chr4 121957734 121957734 T C rs1397645 NDNF Synonymous SNV S464S 0.807 0.805 0.827 327 947 309 0.838 243 377 130 104 140 0.103 19119 chr15 43748304 43748304 A G rs690367 TP53BP1 Synonymous SNV D834D 0.332 0.38 0.35 138 390 146 0.354 103 73 25 19 23 0.002 19120 chr15 42453963 42453963 T C rs16972779 VPS39 Synonymous SNV E823E 0.02 0.01 0.02 8 24 4 0.021 6 0 0 0 0 5.546 19121 chr4 121958091 121958091 T G rs3733558 NDNF Synonymous SNV L345L 0.533 0.51 0.514 203 626 196 0.521 151 172 51 44 53 0.003 19122 chr17 10536018 10536018 G A rs2285479 MYH3 Synonymous SNV I1577I 0.647 0.664 0.69 267 760 255 0.685 203 239 79 73 87 Benign 11.46 19123 chr4 121958187 121958187 A G rs3822230 NDNF Synonymous SNV D313D 0.532 0.51 0.514 202 624 196 0.518 151 172 51 44 52 0.029 19124 chr15 43748727 43748727 C T rs751615663 TP53BP1 Synonymous SNV P693P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.53 19125 chr15 100636586 100636586 G A rs4965583 ADAMTS17 Synonymous SNV G704G 0.18 0.164 0.092 55 211 63 0.141 27 17 1 2 0 Benign 11.44 19126 chr4 121958697 121958697 G A rs3733560 NDNF Synonymous SNV S143S 0.497 0.471 0.49 188 583 181 0.482 144 152 43 41 48 7.722 19127 chr17 10541515 10541515 C T rs2285477 MYH3 Nonsynonymous SNV A1192T 0.706 0.742 0.721 292 829 285 0.749 212 287 103 79 106 Benign 14.03 19128 chr4 71232388 71232388 G A rs10031844 SMR3A Nonsynonymous SNV G28R 0.274 0.297 0.272 127 322 114 0.326 80 47 17 16 21 0.058 19129 chr15 43767774 43767774 G C rs560191 TP53BP1 Nonsynonymous SNV D358E 0.332 0.38 0.35 138 390 146 0.354 103 73 25 19 23 10.81 19130 chr15 42459034 42459034 T C rs1619030 VPS39 Synonymous SNV L485L 0.154 0.167 0.177 65 181 64 0.167 52 15 5 5 3 9.153 19131 chr4 121966807 121966807 C T rs2276959 NDNF Synonymous SNV K62K 0.767 0.755 0.772 311 901 290 0.797 227 344 115 93 127 15.17 19132 chr4 122254014 122254014 A G rs55975435 QRFPR Synonymous SNV L253L 0.111 0.094 0.075 39 130 36 0.1 22 9 1 2 1 0.009 19133 chr17 10542471 10542471 T G rs2285475 MYH3 Synonymous SNV R1046R 0.648 0.667 0.694 268 761 256 0.687 204 240 80 73 88 Benign 0.827 19134 chr15 43815999 43815999 C T rs3862138 MAP1A Synonymous SNV P776P 0.158 0.221 0.197 82 186 85 0.21 58 12 9 7 7 4.704 19135 chr15 52901433 52901433 C T rs12915981 FAM214A Nonsynonymous SNV V567I 0.741 0.732 0.724 286 870 281 0.733 213 323 108 77 105 0.001 19136 chr4 122592742 122592742 G A rs147775952 ANXA5 Synonymous SNV R227R 0.022 0.023 0.01 6 26 9 0.015 3 0 0 0 0 14.53 19137 chr17 10542765 10542765 A G rs2285474 MYH3 Synonymous SNV S984S 0.648 0.667 0.66 268 761 256 0.687 194 240 80 73 88 Benign 0.003 19138 chr15 43816917 43816917 G A rs1060939 MAP1A Synonymous SNV G1082G 0.325 0.367 0.35 136 382 141 0.349 103 67 25 18 22 0.004 19139 chr4 122683007 122683007 G A rs4370153 TMEM155 Nonsynonymous SNV A11V 0.826 0.841 0.84 327 970 323 0.838 247 397 134 105 137 0.142 19140 chr17 10543463 10543463 T C rs2285469 MYH3 Synonymous SNV A844A 0.648 0.667 0.667 268 761 256 0.687 196 240 80 73 88 Benign 0.009 19141 chr15 43817404 43817404 G A rs12912505 MAP1A Nonsynonymous SNV D1245N 0.158 0.221 0.194 81 186 85 0.208 57 12 9 7 7 19.58 19142 chr4 71339723 71339723 G A rs2306949 MUC7 0.11 0.112 0.102 52 129 43 0.133 30 8 4 1 3 15.75 19143 chr15 42575956 42575956 A G rs2412688 GANC Nonsynonymous SNV Q189R 0.024 0.021 0.02 14 28 8 0.036 6 0 0 0 0 14.81 19144 chr17 10544416 10544416 G T rs876657 MYH3 Synonymous SNV G717G 0.647 0.667 0.69 267 760 256 0.685 203 240 80 72 87 Benign 5.426 19145 chr4 71346701 71346701 C G rs6826961 MUC7 Nonsynonymous SNV N80K 0.227 0.214 0.214 102 266 82 0.262 63 31 11 7 16 0.001 19146 chr4 122742217 122742217 T C rs769242 CCNA2 Nonsynonymous SNV I163V 0.97 0.977 0.966 376 1139 375 0.964 284 552 183 138 181 8.596 19147 chr17 10608771 10608771 T C rs771691226 ADPRM Synonymous SNV S176S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 19148 chr15 43817406 43817406 T C rs480108 MAP1A Synonymous SNV D1245D 0.325 0.367 0.35 136 382 141 0.349 103 67 25 18 22 0.001 19149 chr17 10614442 10614442 A G rs406446 ADPRM Nonsynonymous SNV E337G 0.469 0.461 0.432 179 551 177 0.459 127 140 43 25 36 14.66 19150 chr15 53081800 53081800 G C rs61735385 ONECUT1 Synonymous SNV P94P 0.08 0.081 0.044 31 94 31 0.079 13 1 1 0 0 3.703 19151 chr15 43818079 43818079 G A rs62020612 MAP1A Nonsynonymous SNV A1470T 0.159 0.221 0.187 82 187 85 0.21 55 12 9 7 7 10.67 19152 chr4 122824052 122824052 C T rs11732666 TRPC3 Synonymous SNV R733R 0.283 0.276 0.255 91 332 106 0.233 75 56 15 8 12 14.2 19153 chr15 53907948 53907948 G A rs17730281 WDR72 Nonsynonymous SNV L819F 0.17 0.151 0.184 61 200 58 0.156 54 15 6 7 6 Benign/Likely benign 26.6 19154 chr17 10633181 10633181 A G rs3826448 TMEM220-AS1 0.463 0.453 0.432 179 543 174 0.459 127 144 45 28 39 7.507 19155 chr4 71468985 71468985 A G rs35266919 AMBN Synonymous SNV Q219Q 0.11 0.107 0.075 41 129 41 0.105 22 7 2 1 1 0.02 19156 chr4 122872719 122872719 G A rs1396082 TRPC3 Synonymous SNV G39G 0.489 0.508 0.31 183 574 195 0.469 91 155 49 26 33 14.38 19157 chr17 10705806 10705806 G C rs4792034 TMEM220-AS1 0 0 0.898 0 0 0 0 264 0 0 119 0 1.876 19158 chr17 11523082 11523082 A G rs9892256 DNAH9 Nonsynonymous SNV Q445R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 19159 chr4 71555507 71555507 T A rs34648105 UTP3 Nonsynonymous SNV D371E 0.007 0.005 0.007 5 8 2 0.013 2 0 0 0 0 Benign 0.298 19160 chr4 123150286 123150286 T C rs6848868 KIAA1109 Nonsynonymous SNV I978T 0.15 0.138 0.133 60 176 53 0.154 39 11 4 2 2 14.32 19161 chr15 42579984 42579984 G A rs16973008 GANC Synonymous SNV P99P 0.043 0.047 0.061 27 51 18 0.069 18 2 0 0 0 13.94 19162 chr15 42643529 42643529 T C rs7181742 GANC Nonsynonymous SNV F845S 0.147 0.167 0.18 64 173 64 0.164 53 13 5 5 3 14.57 19163 chr17 11532835 11532835 A G rs9895535 DNAH9 Synonymous SNV E484E 0.304 0.326 0.282 110 357 125 0.282 83 56 20 9 12 Benign 0.118 19164 chr15 42452961 42452961 A G rs113183884 VPS39 Synonymous SNV A873A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.7 19165 chr4 123536963 123536963 G A rs4833837 IL21 Synonymous SNV C78C 0.784 0.784 0.721 283 920 301 0.726 212 362 117 77 102 Benign 11.22 19166 chr17 11583089 11583089 T C rs8071438 DNAH9 Synonymous SNV D1123D 0.98 0.977 0.963 379 1151 375 0.972 283 564 183 136 184 Benign 0.034 19167 chr15 44900675 44900675 C T rs36014111 SPG11 Synonymous SNV L1140L 0.027 0.023 0.031 8 32 9 0.021 9 0 0 0 0 Benign 15.62 19168 chr4 123664204 123664204 G A rs309370 BBS12 Nonsynonymous SNV R386Q 0.382 0.349 0.367 172 448 134 0.441 108 87 25 22 35 Benign 9.753 19169 chr17 11642234 11642234 A G DNAH9 Nonsynonymous SNV Q1951R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.057 19170 chr15 40510662 40510662 C T rs1802286 BUB1B Synonymous SNV D952D 0.032 0.036 0.037 16 37 14 0.041 11 0 0 1 0 Benign 13.63 19171 chr15 42643538 42643538 A G rs7180279 GANC Nonsynonymous SNV Q848R 0.043 0.049 0.065 26 50 19 0.067 19 2 0 0 0 14.04 19172 chr15 40727643 40727643 C G rs534403729 IVD Nonsynonymous SNV P389R 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 18.18 19173 chr15 44943757 44943757 A G rs3759871 SPG11 Nonsynonymous SNV F463S 0.43 0.479 0.412 191 505 184 0.49 121 110 46 25 51 Benign 23.1 19174 chr15 42476845 42476845 C T rs113175757 VPS39 Synonymous SNV E196E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 15.67 19175 chr17 11648332 11648332 C T rs3744578 DNAH9 Synonymous SNV N2110N 0.824 0.818 0.806 315 967 314 0.808 237 397 127 97 126 Benign 8.709 19176 chr4 123664427 123664427 G C rs13135766 BBS12 Synonymous SNV V460V 0.205 0.219 0.214 98 241 84 0.251 63 26 9 9 14 Benign 7.863 19177 chr17 11672607 11672607 G T rs61744697 DNAH9 Nonsynonymous SNV V2505L 0.113 0.102 0.119 44 133 39 0.113 35 6 1 0 3 Benign 29.5 19178 chr4 123664446 123664446 G A rs13135778 BBS12 Nonsynonymous SNV D467N 0.198 0.201 0.204 95 232 77 0.244 60 25 7 9 14 Benign 0.159 19179 chr15 42729508 42729508 G A rs4924677 ZNF106 Synonymous SNV A718A 0.016 0.01 0.017 7 19 4 0.018 5 0 0 0 0 9.783 19180 chr17 11786951 11786951 T C rs8070256 DNAH9 Synonymous SNV L3619L 0.549 0.536 0.561 207 644 206 0.531 165 183 58 43 52 Benign 0.021 19181 chr15 42740369 42740369 C T rs3742996 ZNF106 Synonymous SNV A174A 0.016 0.01 0.017 7 19 4 0.018 5 0 0 0 0 12.48 19182 chr17 11833287 11833287 A G rs2286303 DNAH9 Synonymous SNV P306P 0.357 0.365 0.367 124 419 140 0.318 108 76 27 19 19 Benign 5.979 19183 chr15 42742464 42742464 A G rs12101559 ZNF106 Nonsynonymous SNV I646T 0.021 0.018 0.048 10 25 7 0.026 14 0 0 2 0 0.002 19184 chr4 123664457 123664457 C T rs13135445 BBS12 Synonymous SNV C470C 0.223 0.211 0.224 106 262 81 0.272 66 30 9 11 16 Benign 8.609 19185 chr17 11833365 11833365 G A rs1859887 DNAH9 Synonymous SNV T332T 0.359 0.365 0.367 124 421 140 0.318 108 77 27 19 19 Benign 14.46 19186 chr17 1183354 1183354 T C rs6502774 TRARG1 Nonsynonymous SNV F20S 0.79 0.789 0.752 284 928 303 0.728 221 364 119 81 101 12.76 19187 chr4 123664919 123664919 A G rs13102440 BBS12 Synonymous SNV Q624Q 0.198 0.201 0.204 95 233 77 0.244 60 24 7 9 14 Benign 0.062 19188 chr15 55489065 55489065 G A rs9300 RSL24D1 Synonymous SNV F8F 0.156 0.182 0.224 63 183 70 0.162 66 14 4 6 3 16.25 19189 chr4 73156678 73156678 T C rs143166648 ADAMTS3 Nonsynonymous SNV N942S 0.011 0.013 0.003 5 13 5 0.013 1 0 1 0 0 Likely benign 4.584 19190 chr4 123838758 123838758 A G rs12648093 NUDT6 Nonsynonymous SNV C114R 0.635 0.656 0.66 235 745 252 0.603 194 240 86 64 71 0.002 19191 chr15 55647492 55647492 C T rs8043415 PIGB Synonymous SNV S509S 0.08 0.078 0.126 17 94 30 0.044 37 3 0 1 0 11.48 19192 chr17 1183464 1183464 A G rs6502776 TRARG1 Nonsynonymous SNV S57G 0.743 0.737 0.718 274 872 283 0.703 211 316 104 78 96 0.157 19193 chr15 42631928 42631928 T C rs36023127 GANC Synonymous SNV A635A 0.104 0.117 0.109 37 122 45 0.095 32 7 5 1 2 6.823 19194 chr4 123843716 123843716 T C rs13134412 NUDT6 Synonymous SNV P4P 0.866 0.859 0.861 333 1017 330 0.854 253 445 145 110 142 0.118 19195 chr17 11835331 11835331 G A rs17612861 DNAH9 Nonsynonymous SNV D348N 0.354 0.359 0.371 123 416 138 0.315 109 77 27 19 20 Benign 22.4 19196 chr15 55664110 55664110 G C rs117236526 CCPG1 Nonsynonymous SNV A196G 0.078 0.078 0.122 17 92 30 0.044 36 2 0 1 0 8.64 19197 chr15 42631976 42631976 G A rs35039186 GANC Synonymous SNV K651K 0.104 0.117 0.109 37 122 45 0.095 32 7 5 1 2 9.938 19198 chr15 40685406 40685406 A T rs8036457 KNSTRN Nonsynonymous SNV N279Y 0.129 0.117 0.129 57 152 45 0.146 38 6 6 2 2 3.385 19199 chr15 42976518 42976518 A G rs55959547 STARD9 Synonymous SNV G914G 0.033 0.023 0.014 14 39 9 0.036 4 2 0 0 0 5.595 19200 chr4 123949556 123949556 G A rs1472949 SPATA5 Synonymous SNV G694G 0.896 0.885 0.925 355 1052 340 0.91 272 493 158 126 165 Benign 0.634 19201 chr15 43020850 43020850 T C rs371548844 CDAN1 Nonsynonymous SNV E935G 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 26.1 19202 chr17 12664177 12664177 T C rs16946572 LOC100128006 0 0 0.218 0 0 0 0 64 0 0 9 0 4.339 19203 chr15 55664220 55664220 G A rs3203152 CCPG1 Synonymous SNV D159D 0.113 0.112 0.146 21 133 43 0.054 43 5 2 1 1 11.59 19204 chr15 29428596 29428596 C T rs778419983 FAM189A1 Synonymous SNV A300A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 19205 chr4 126237971 126237971 C T rs72928772 FAT4 Synonymous SNV F135F 0.174 0.174 0.18 74 204 67 0.19 53 20 9 10 9 Benign 10.72 19206 chr17 12820646 12820646 G C rs7210937 MIR1269B 0 0 0.116 0 0 0 0 34 0 0 5 0 0.312 19207 chr15 45386806 45386806 G C rs56323146 DUOX2 Synonymous SNV P1493P 0.053 0.044 0.071 20 62 17 0.051 21 1 0 1 0 Benign/Likely benign 7.514 19208 chr4 74124072 74124083 CCGCCTCCACCG - rs765067521 ANKRD17 G107_G110del 0.011 0.005 0.01 6 13 2 0.015 3 0 0 0 0 19209 chr17 12877530 12877530 C T rs1109767 ARHGAP44 Synonymous SNV L350L 0.045 0.039 0.054 12 53 15 0.031 16 0 1 0 0 15.88 19210 chr15 55700981 55700981 C A rs16953240 C15orf65 Nonsynonymous SNV N5K 0.113 0.109 0.146 21 133 42 0.054 43 5 2 1 1 12.45 19211 chr15 43022806 43022806 G A rs140014115 CDAN1 Nonsynonymous SNV R722C 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 Uncertain significance 23.9 19212 chr15 42652065 42652065 G A rs28364364 CAPN3 Nonsynonymous SNV G21E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 19213 chr4 126238924 126238924 A T rs6847454 FAT4 Nonsynonymous SNV Q453L 0.388 0.404 0.381 137 456 155 0.351 112 98 34 25 28 Benign 0.029 19214 chr15 45389453 45389453 G C rs143471358 DUOX2 Nonsynonymous SNV A1277G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 19215 chr17 13399616 13399616 A T rs61741326 HS3ST3A1 Synonymous SNV P373P 0.359 0.391 0.381 149 421 150 0.382 112 78 26 20 27 0.003 19216 chr4 74285239 74285239 C T rs962004 ALB Synonymous SNV L556L 0.468 0.492 0.534 194 549 189 0.497 157 127 49 42 49 Benign 12.67 19217 chr15 55722882 55722882 C A rs57809907 DNAAF4 Stop gain E417X 0.116 0.112 0.146 20 136 43 0.051 43 6 2 1 1 Benign 42 19218 chr17 1359363 1359363 T G rs2229075 CRK Synonymous SNV R17R 0.688 0.643 0.663 239 808 247 0.613 195 280 80 65 74 6.057 19219 chr15 40727879 40727879 C A rs72733450 IVD Nonsynonymous SNV L468I 0.124 0.128 0.082 57 145 49 0.146 24 7 3 2 3 9.262 19220 chr17 1371752 1371752 G T rs8065685 MYO1C Synonymous SNV G883G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 9.979 19221 chr15 42652099 42652099 T C rs1801496 CAPN3 Synonymous SNV T32T 0.105 0.117 0.109 37 123 45 0.095 32 7 4 1 2 Benign/Likely benign 0.005 19222 chr4 126239986 126239986 C T rs1039808 FAT4 Nonsynonymous SNV A807V 0.388 0.404 0.381 137 456 155 0.351 112 98 34 25 28 Benign 23.7 19223 chr15 55790530 55790530 C T rs3743205 DNAAF4-CCPG1 0.065 0.057 0.116 16 76 22 0.041 34 2 0 1 0 Benign 11.28 19224 chr17 1373518 1373518 T C rs9905106 MYO1C Nonsynonymous SNV Q826R 0.716 0.701 0.687 268 841 269 0.687 202 303 96 72 93 Benign 10.24 19225 chr4 74319538 74319538 C G rs7790 AFP Nonsynonymous SNV A570G 0.009 0.016 0.007 3 11 6 0.008 2 0 0 0 0 10.8 19226 chr15 42652235 42652235 C A rs138867099 CAPN3 Nonsynonymous SNV P78T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 19227 chr15 55972797 55972797 T C rs16976466 PRTG Nonsynonymous SNV T236A 0.114 0.091 0.146 41 134 35 0.105 43 6 1 3 2 9.894 19228 chr4 126240510 126240510 T C rs2940779 FAT4 Synonymous SNV L982L 0.721 0.737 0.731 282 846 283 0.723 215 314 103 77 104 Benign 0.001 19229 chr15 43498759 43498759 C T rs148871144 EPB42 Nonsynonymous SNV G493S 0.013 0.013 0.007 2 15 5 0.005 2 0 0 0 0 Uncertain significance 8.066 19230 chr17 1373612 1373612 C T rs8081370 MYO1C Nonsynonymous SNV V795I 0.912 0.917 0.895 349 1071 352 0.895 263 489 161 121 154 Benign 15.29 19231 chr15 45393014 45393014 G C rs61730030 DUOX2 Nonsynonymous SNV P982A 0.053 0.047 0.051 14 62 18 0.036 15 1 0 1 0 Benign 0.008 19232 chr4 126241871 126241871 C T rs2710555 FAT4 Synonymous SNV I1435I 0.721 0.737 0.731 282 846 283 0.723 215 314 103 77 104 Benign 16.48 19233 chr15 43749332 43749332 C T rs61758067 TP53BP1 Nonsynonymous SNV V492I 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 12.77 19234 chr4 126329789 126329789 T C rs958415 FAT4 Synonymous SNV D1920D 1 1 0.997 385 1174 384 0.987 293 587 192 146 190 Benign 0.011 19235 chr17 1377943 1377943 A G rs2286873 MYO1C Synonymous SNV F586F 0.391 0.385 0.364 154 459 148 0.395 107 83 30 17 33 Benign 6.772 19236 chr15 45397889 45397889 C T rs73406334 DUOX2 Synonymous SNV Q762Q 0.07 0.078 0.082 23 82 30 0.059 24 3 1 1 0 Benign/Likely benign 13.54 19237 chr4 74735244 74735244 A G rs2071425 CXCL1 Synonymous SNV A19A 0.236 0.237 0.248 95 277 91 0.244 73 41 12 7 11 1.78 19238 chr4 126369872 126369872 G C rs988863 FAT4 Synonymous SNV V2569V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 6.503 19239 chr17 1383893 1383893 G A rs12452780 MYO1C Synonymous SNV I278I 0.03 0.018 0.027 11 35 7 0.028 8 0 0 0 0 Benign 11.67 19240 chr15 43821532 43821532 C T rs372251316 MAP1A Nonsynonymous SNV R2621C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 33 19241 chr15 45398369 45398369 C T rs113400262 DUOX2 Nonsynonymous SNV R701Q 0.06 0.065 0.071 16 71 25 0.041 21 1 1 1 0 Benign/Likely benign 19.78 19242 chr4 126373570 126373570 C T rs75380987 FAT4 Nonsynonymous SNV S3802F 0.041 0.055 0.061 23 48 21 0.059 18 1 0 1 3 Benign 24.6 19243 chr15 42976706 42976706 C T rs62019359 STARD9 Nonsynonymous SNV A977V 0.023 0.026 0.051 8 27 10 0.021 15 0 0 1 0 23.9 19244 chr17 1384066 1384066 A G rs4790518 MYO1C Synonymous SNV G247G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.052 19245 chr4 74904296 74904296 G T rs182216932 CXCL3 Nonsynonymous SNV S11R 0.007 0.016 0.007 5 8 6 0.013 2 0 0 0 0 6.759 19246 chr17 14005439 14005439 G A rs2159132 COX10 Synonymous SNV L168L 0.6 0.609 0.643 231 704 234 0.592 189 207 70 59 66 Benign 0.44 19247 chr15 45398438 45398438 T C rs57659670 DUOX2 Nonsynonymous SNV H678R 0.078 0.083 0.088 25 91 32 0.064 26 3 1 1 0 Benign/Likely benign 0.002 19248 chr17 14248423 14248423 T C rs61744056 HS3ST3B1 Synonymous SNV P211P 0.674 0.633 0.653 253 791 243 0.649 192 259 76 61 77 0.798 19249 chr4 126373789 126373789 G A rs12650153 FAT4 Nonsynonymous SNV S3875N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 14.02 19250 chr15 41145919 41145919 C T rs17658212 SPINT1 Synonymous SNV L251L 0.082 0.107 0.082 19 96 41 0.049 24 3 2 1 1 15.47 19251 chr17 1442202 1442202 T C rs34734983 PITPNA Synonymous SNV V139V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.387 19252 chr17 1494567 1494567 G A rs12953268 SLC43A2 Synonymous SNV A172A 0.526 0.529 0.531 217 618 203 0.556 156 159 53 49 56 9.975 19253 chr15 41146880 41146880 T C rs8028552 SPINT1 Synonymous SNV S370S 0.221 0.193 0.197 77 259 74 0.197 58 21 6 6 6 8.366 19254 chr4 126408586 126408586 C T rs17009825 FAT4 Synonymous SNV D4303D 0.06 0.078 0.082 35 70 30 0.09 24 2 2 2 3 Benign 13.21 19255 chr17 15154966 15154966 T A rs66507245 MIR4731 0 0 0.49 0 0 0 0 144 0 0 35 0 3.459 19256 chr4 126412575 126412575 A G rs1014866 FAT4 Synonymous SNV R4867R 0.773 0.771 0.738 308 908 296 0.79 217 357 114 81 126 Benign 0.923 19257 chr17 15207364 15207364 T G rs13961 TEKT3 Synonymous SNV T454T 0.741 0.794 0.745 279 870 305 0.715 219 319 120 84 97 4.436 19258 chr17 15217437 15217437 C G rs230898 TEKT3 Nonsynonymous SNV G282A 0.412 0.464 0.405 175 484 178 0.449 119 94 43 27 37 13.35 19259 chr4 128565000 128565000 A G rs3749507 INTU Synonymous SNV R157R 0.629 0.602 0.636 252 738 231 0.646 187 230 69 61 79 2.097 19260 chr15 45409732 45409732 C G rs61751061 DUOXA1 Nonsynonymous SNV R433P 0.073 0.07 0.092 22 86 27 0.056 27 1 2 2 0 9.441 19261 chr4 128584580 128584580 G A rs4833380 INTU Synonymous SNV T271T 0.695 0.648 0.701 278 816 249 0.713 206 280 81 71 99 9.395 19262 chr17 15343524 15343524 - CTT rs397729402 CDRT4, TVP23C-CDRT4 0.999 0.997 0.993 389 1173 383 0.997 292 586 191 145 194 19263 chr15 31776021 31776021 T C rs2338681 OTUD7A Nonsynonymous SNV S753G 0.158 0.052 0.034 112 186 20 0.287 10 93 10 5 56 0.002 19264 chr4 75937914 75937914 G C rs35489484 PARM1 Nonsynonymous SNV G108A 0.028 0.016 0 10 33 6 0.026 0 0 0 0 0 Benign 11.05 19265 chr17 1538546 1538546 C T rs4790250 SCARF1 Nonsynonymous SNV G667S 0.997 0.995 0.986 389 1170 382 0.997 290 583 190 143 194 9.422 19266 chr4 128627927 128627927 T G rs34311863 INTU Nonsynonymous SNV C692G 0.006 0 0.003 7 7 0 0.018 1 0 0 0 0 7.594 19267 chr15 56959028 56959028 C T rs28620278 ZNF280D Nonsynonymous SNV V555I 0.454 0.435 0.435 209 533 167 0.536 128 110 30 24 61 2.125 19268 chr15 43237572 43237572 T C rs16957277 UBR1 Synonymous SNV Q1735Q 0.051 0.055 0.061 23 60 21 0.059 18 0 0 0 2 Benign 0.613 19269 chr4 76489345 76489345 C T rs2306175 ODAPH Nonsynonymous SNV P30L 0.18 0.172 0.18 69 211 66 0.177 53 22 11 2 3 Benign 20.5 19270 chr17 1538628 1538628 C G rs3744644 SCARF1 Nonsynonymous SNV E639D 0.996 0.995 0.986 389 1169 382 0.997 290 582 190 143 194 19 19271 chr4 128651726 128651726 A G rs35968387 SLC25A31 Nonsynonymous SNV K9R 0.006 0 0.003 7 7 0 0.018 1 0 0 0 0 0.311 19272 chr15 40916801 40916801 A G rs16970911 KNL1 Nonsynonymous SNV T1447A 0.094 0.099 0.119 43 110 38 0.11 35 3 1 1 1 Likely benign 0.061 19273 chr17 1542153 1542153 G A rs2272012 SCARF1 Synonymous SNV G437G 0.675 0.685 0.602 238 792 263 0.61 177 276 90 59 70 14.92 19274 chr15 32929584 32929584 G A rs370429523 ARHGAP11A Synonymous SNV L681L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.276 19275 chr4 128689936 128689936 A G rs2305958 SLC25A31 Synonymous SNV P221P 0.753 0.727 0.789 301 884 279 0.772 232 324 95 93 114 0.196 19276 chr17 1542190 1542190 G A rs2272011 SCARF1 Nonsynonymous SNV A425V 0.652 0.669 0.602 235 766 257 0.603 177 257 87 58 69 1.978 19277 chr4 128723042 128723042 T C rs1380154 HSPA4L Nonsynonymous SNV L170S 0.773 0.753 0.813 310 908 289 0.795 239 345 104 99 122 11.13 19278 chr15 45545478 45545478 C T rs11854484 SLC28A2 Nonsynonymous SNV P22L 0.525 0.513 0.514 205 616 197 0.526 151 156 52 44 54 11.39 19279 chr17 1551223 1551223 C T rs61735419 RILP Nonsynonymous SNV G284S 0.093 0.07 0.031 26 109 27 0.067 9 5 1 0 2 27.4 19280 chr4 128807219 128807219 T A rs3811740 PLK4 Nonsynonymous SNV S200T 0.773 0.753 0.82 310 907 289 0.795 241 344 104 100 122 0.004 19281 chr15 57918069 57918069 A G rs2069133 GCOM1, MYZAP Synonymous SNV A168A 0.423 0.451 0.388 146 497 173 0.374 114 96 32 17 25 3.816 19282 chr17 1554770 1554770 A G rs1802491 PRPF8 Synonymous SNV H2196H 0.128 0.107 0.075 38 150 41 0.097 22 12 3 2 3 Benign 1.431 19283 chr4 128814964 128814964 G T rs17012739 PLK4 Nonsynonymous SNV E798D 0.773 0.753 0.82 310 907 289 0.795 241 344 104 100 122 0.001 19284 chr4 76878716 76878716 G C rs2242471 SDAD1 Nonsynonymous SNV S538C 0.358 0.352 0.401 155 420 135 0.397 118 79 27 23 26 26.6 19285 chr17 1556911 1556911 C T rs11559309 PRPF8 Synonymous SNV K2098K 0.093 0.068 0.041 26 109 26 0.067 12 5 1 0 3 Benign 15.32 19286 chr15 45695445 45695445 C G rs143453038 SPATA5L1 Nonsynonymous SNV S273C 0.035 0.068 0.041 14 41 26 0.036 12 0 0 0 0 23 19287 chr17 1565283 1565283 C T rs35169383 PRPF8 Synonymous SNV P1313P 0.093 0.068 0.041 26 109 26 0.067 12 5 1 0 3 Benign 9.222 19288 chr17 1578939 1578939 C T rs33965342 PRPF8 Synonymous SNV P949P 0.261 0.224 0.221 100 307 86 0.256 65 40 7 7 13 Benign 17.65 19289 chr4 128922888 128922888 T C rs144263762 ABHD18 Nonsynonymous SNV L2P 0.005 0 0.007 6 6 0 0.015 2 0 0 0 0 7.246 19290 chr17 1580929 1580929 G C rs11078565 PRPF8 Synonymous SNV L638L 0.262 0.224 0.221 101 308 86 0.259 65 40 7 7 13 Benign 10.02 19291 chr15 58357800 58357800 C T rs143084397 ALDH1A2 Nonsynonymous SNV A17T 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 22.9 19292 chr4 129012181 129012181 G A rs2306054 LARP1B Synonymous SNV R128R 0.779 0.771 0.816 318 914 296 0.815 240 347 109 100 129 11.29 19293 chr17 1584324 1584324 A G rs7503397 PRPF8 Synonymous SNV N297N 0.262 0.224 0.221 100 308 86 0.256 65 40 7 7 13 Benign 7.219 19294 chr17 1611433 1611433 A G rs4790809 TLCD2 Synonymous SNV S142S 0.893 0.922 0.884 343 1048 354 0.879 260 470 166 115 154 7.4 19295 chr4 129012638 129012638 A G rs1064205 LARP1B Synonymous SNV A213A 0.779 0.771 0.813 318 914 296 0.815 239 347 109 100 129 10.04 19296 chr17 1629969 1629969 C T rs80035274 WDR81 Synonymous SNV H572H 0.165 0.167 0.153 78 194 64 0.2 45 13 6 4 6 Likely benign 4.335 19297 chr17 16325968 16325968 A G rs8121 TRPV2 Synonymous SNV G130G 0.362 0.352 0.422 163 425 135 0.418 124 79 24 26 35 0.552 19298 chr4 77631425 77631425 T A rs3821979 SHROOM3 Nonsynonymous SNV L147H 0.095 0.12 0.136 37 112 46 0.095 40 7 3 4 1 26.8 19299 chr4 129043204 129043204 C G rs12508837 LARP1B Nonsynonymous SNV P221R 0.778 0.771 0.796 318 913 296 0.815 234 346 109 98 129 23.1 19300 chr17 16326005 16326005 A C rs1129235 TRPV2 Synonymous SNV R143R 0.355 0.346 0.418 158 417 133 0.405 123 75 23 26 32 0.29 19301 chr4 129043286 129043286 C T rs3733320 LARP1B Synonymous SNV Y248Y 0.778 0.771 0.806 318 913 296 0.815 237 346 109 98 129 0.985 19302 chr17 16336992 16336992 C G rs14039 TRPV2 Synonymous SNV P698P 0.343 0.32 0.398 155 403 123 0.397 117 67 18 25 31 11.94 19303 chr17 1634104 1634104 C T rs12150338 WDR81 Synonymous SNV A74A 0.131 0.112 0.126 45 154 43 0.115 37 9 2 4 1 Likely benign 9.765 19304 chr4 129100643 129100643 G A rs12645577 LARP1B Nonsynonymous SNV R380H 0.778 0.768 0.803 318 913 295 0.815 236 346 108 97 129 9.09 19305 chr17 16344600 16344600 T C rs4617905 SNORD65 0 0 0.677 0 0 0 0 199 0 0 65 0 14.43 19306 chr17 16344601 16344601 G C rs4622550 SNORD65 0 0 0.408 0 0 0 0 120 0 0 26 0 21.8 19307 chr4 129867280 129867280 T A rs10028124 SCLT1 Nonsynonymous SNV S441C 0.75 0.76 0.724 302 880 292 0.774 213 333 111 76 113 23.4 19308 chr17 16344875 16344875 C T rs9251 SNHG29 0 0 0.401 0 0 0 0 118 0 0 26 0 3.148 19309 chr17 1637074 1637074 A G rs3809871 WDR81 Synonymous SNV P378P 0.456 0.456 0.463 193 535 175 0.495 136 119 37 31 44 Likely benign 0.005 19310 chr17 1637302 1637302 A G rs3809872 WDR81 Synonymous SNV L454L 0.681 0.659 0.677 268 799 253 0.687 199 273 82 65 93 Benign/Likely benign 0.36 19311 chr4 129924977 129924977 C A rs3113487 SCLT1 Synonymous SNV L115L 0.589 0.552 0.554 225 691 212 0.577 163 203 59 47 61 10.32 19312 chr15 59323048 59323048 C G rs2899642 RNF111 Nonsynonymous SNV N9K 0.448 0.466 0.466 198 526 179 0.508 137 124 47 34 49 22.9 19313 chr17 1637458 1637458 G A rs8065251 WDR81 Synonymous SNV P506P 0.227 0.206 0.211 77 266 79 0.197 62 35 8 9 6 Benign/Likely benign 5.408 19314 chr15 34119443 34119443 C T rs138744371 RYR3 Synonymous SNV T3758T 0 0 0 0 0 0 0 0 0 0 0 0 Benign 16.85 19315 chr4 130030652 130030652 A G rs337277 C4orf33 Nonsynonymous SNV M107V 0.766 0.771 0.776 301 899 296 0.772 228 339 112 89 118 0.669 19316 chr17 1639458 1639458 A G rs11549259 WDR81 Synonymous SNV T614T 0.681 0.654 0.66 270 800 251 0.692 194 273 81 66 95 Likely benign 1.13 19317 chr15 49076311 49076311 T C rs181295720 CEP152 Nonsynonymous SNV I394V 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.76 19318 chr17 1640709 1640709 C T rs1045794 WDR81 Synonymous SNV T649T 0.172 0.169 0.163 85 202 65 0.218 48 14 6 4 6 Likely benign 17.06 19319 chr4 135121066 135121066 T G rs11099273 PABPC4L Nonsynonymous SNV H370P 0.42 0.359 0.384 174 493 138 0.446 113 105 27 17 36 11.29 19320 chr17 1640793 1640793 C T rs8077638 WDR81 Synonymous SNV S677S 0.226 0.206 0.211 77 265 79 0.197 62 34 8 9 6 Likely benign 19.46 19321 chr4 77675505 77675505 C T rs3733242 SHROOM3 Nonsynonymous SNV P1290L 0.333 0.313 0.333 134 391 120 0.344 98 70 19 19 18 1.272 19322 chr4 135121368 135121368 G T rs2044116 PABPC4L Synonymous SNV V269V 0.426 0.365 0.384 174 500 140 0.446 113 108 27 17 36 10.33 19323 chr15 59963488 59963488 A G rs1135148 BNIP2 Synonymous SNV L148L 0.394 0.396 0.381 135 462 152 0.346 112 95 37 28 20 10.39 19324 chr15 44087287 44087287 A G rs151106509 SERINC4 Nonsynonymous SNV W246R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 19325 chr17 16455178 16455178 G A rs753188950 ZNF287 Nonsynonymous SNV R712C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 19326 chr4 135121601 135121601 C T rs10009368 PABPC4L Nonsynonymous SNV V192I 0.426 0.365 0.384 174 500 140 0.446 113 108 27 17 36 0.616 19327 chr15 28260053 28260053 G A rs1800401 OCA2 Nonsynonymous SNV R305W 0.08 0.073 0.112 31 94 28 0.079 33 3 0 4 1 Benign 22.9 19328 chr15 60653205 60653205 C A rs17845226 ANXA2 Nonsynonymous SNV V116L 0.123 0.12 0.119 53 144 46 0.136 35 12 3 2 1 21 19329 chr15 34543180 34543180 C G rs140916001 SLC12A6 Nonsynonymous SNV S456T 0.006 0.005 0.01 6 7 2 0.015 3 0 0 0 0 Benign/Likely benign 7.618 19330 chr4 78784013 78784013 C G rs28695846 MRPL1 Nonsynonymous SNV A4G 0.003 0.01 0.003 4 3 4 0.01 1 0 0 0 0 11.08 19331 chr17 1648294 1648294 C T rs2070862 SERPINF2 Nonsynonymous SNV A2V 0.173 0.174 0.133 83 203 67 0.213 39 14 7 5 6 Benign 17.18 19332 chr4 138449683 138449683 A G rs10018837 PCDH18 Synonymous SNV L896L 0.41 0.396 0.384 156 481 152 0.4 113 98 30 25 26 12.37 19333 chr15 60690089 60690089 A G rs12904657 ANXA2 Synonymous SNV C8C 0.702 0.685 0.619 277 824 263 0.71 182 291 87 59 91 0.045 19334 chr4 139100372 139100372 C T rs4479754 SLC7A11 Synonymous SNV S481S 0.994 0.995 0.997 387 1167 382 0.992 293 582 191 146 192 15.3 19335 chr17 1657653 1657653 G A rs1057335 SERPINF2 Nonsynonymous SNV R370K 0.193 0.193 0.197 67 227 74 0.172 58 26 7 9 6 Benign 7.836 19336 chr15 60734697 60734697 A G rs1063100 ICE2 Synonymous SNV Y644Y 0.503 0.419 0.207 203 591 161 0.521 61 162 40 16 54 3.06 19337 chr4 140005294 140005294 A G rs4863628 ELF2 Synonymous SNV I17I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.78 19338 chr15 44849698 44849698 G A rs2303578 EIF3J Nonsynonymous SNV A92T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 13.76 19339 chr4 140417651 140417651 C T SETD7 Synonymous SNV T315T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 12.49 19340 chr17 1673276 1673276 C T rs1136287 SERPINF1 Nonsynonymous SNV T72M 0.702 0.703 0.633 262 824 270 0.672 186 291 96 66 83 Benign 6.575 19341 chr4 140417671 140417671 G C rs4863656 SETD7 Nonsynonymous SNV Q309E 0.902 0.885 0.895 347 1059 340 0.89 263 479 151 118 153 0.003 19342 chr15 44864894 44864894 C T rs35932349 SPG11 Synonymous SNV G1997G 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 16.45 19343 chr15 44943797 44943797 T C rs3759873 SPG11 Nonsynonymous SNV I450V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 0.002 19344 chr17 1680002 1680002 T C rs6828 SERPINF1 Synonymous SNV Y134Y 0.672 0.727 0.67 279 789 279 0.715 197 258 102 63 96 Benign 0.328 19345 chr4 140651585 140651587 CTG - rs3051167 MAML3 Q772del 0.998 1 0.997 389 1172 384 0.997 293 586 192 146 194 19346 chr15 62277150 62277150 T C rs778904874 VPS13C Nonsynonymous SNV I500V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 19347 chr17 16842912 16842912 A G rs11078355 TNFRSF13B Synonymous SNV S277S 0.408 0.357 0.371 137 479 137 0.351 109 98 26 31 25 Benign 0.009 19348 chr4 140810637 140810637 C T rs11100342 MAML3 Synonymous SNV P651P 0.645 0.612 0.619 243 757 235 0.623 182 245 74 53 76 4.121 19349 chr15 34656260 34656260 A G rs149805745 LPCAT4 Synonymous SNV P202P 0.014 0.005 0.017 0 17 2 0 5 0 0 0 0 1.454 19350 chr17 1684605 1684605 G T rs58337165 SMYD4 Nonsynonymous SNV P797H 0.055 0.078 0.061 17 64 30 0.044 18 3 2 2 0 13.65 19351 chr15 44943798 44943798 G A rs3759874 SPG11 Synonymous SNV T449T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 6.953 19352 chr4 140810700 140810700 C T rs11729794 MAML3 Synonymous SNV P630P 0.311 0.258 0.337 133 365 99 0.341 99 64 10 22 22 0.418 19353 chr4 140811084 140811084 C - rs373804063 MAML3 Q502Hfs*20 0.799 0.794 0.803 325 938 305 0.833 236 375 121 93 136 19354 chr17 16852187 16852187 A G rs34557412 TNFRSF13B Nonsynonymous SNV C104R 0.007 0.013 0.003 4 8 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity, risk factor 25.9 19355 chr15 51350287 51350287 T G rs78897873 TNFAIP8L3 Nonsynonymous SNV N136H 0.061 0.068 0.034 33 72 26 0.085 10 2 1 0 2 17.77 19356 chr15 49048705 49048705 G C rs16961560 CEP152 Nonsynonymous SNV L914V 0.049 0.052 0.068 37 58 20 0.095 20 4 1 1 4 Benign/Likely benign 6.812 19357 chr4 140811086 140811096 GCTGCTGCTGC - rs58287721 MAML3 Q499Afs*24 0.799 0.794 0.799 325 938 305 0.833 235 375 121 92 136 19358 chr4 140811135 140811135 T C rs3733382 MAML3 Synonymous SNV K485K 0.67 0.633 0.663 265 786 243 0.679 195 267 80 63 90 0.002 19359 chr15 42158057 42158057 G A SPTBN5 Synonymous SNV H2289H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 4.022 19360 chr17 16855878 16855878 C T rs8072293 TNFRSF13B Synonymous SNV T27T 0.723 0.724 0.769 291 849 278 0.746 226 301 103 96 109 Benign 11.77 19361 chr4 79387442 79387442 C T rs7660664 FRAS1 Synonymous SNV H2370H 0.368 0.32 0.35 152 432 123 0.39 103 77 17 16 26 Benign 12.91 19362 chr17 1686410 1686410 T C rs9902398 SMYD4 Nonsynonymous SNV Y727C 0.67 0.721 0.67 278 787 277 0.713 197 257 100 63 96 0.002 19363 chr15 49148192 49148192 T G rs16961728 SHC4 Nonsynonymous SNV Q400H 0.016 0.026 0.024 8 19 10 0.021 7 0 0 0 0 22.2 19364 chr4 141543997 141543997 G A rs1560440 TBC1D9 Synonymous SNV H1051H 0.808 0.813 0.765 314 949 312 0.805 225 381 130 87 126 5.46 19365 chr15 63047793 63047793 C T rs4775538 TLN2 Synonymous SNV I1513I 0.239 0.266 0.241 100 281 102 0.256 71 36 12 9 16 17.54 19366 chr15 51689772 51689772 G A rs17648128 GLDN Nonsynonymous SNV S141N 0.267 0.229 0.262 115 313 88 0.295 77 42 13 15 18 16.36 19367 chr4 141600320 141600320 A G rs4956329 TBC1D9 Synonymous SNV L209L 0.67 0.706 0.646 274 787 271 0.703 190 266 96 67 99 0.332 19368 chr17 16892265 16892265 G A rs9907308 LINC02090 0 0 0.323 0 0 0 0 95 0 0 13 0 4.995 19369 chr4 143043397 143043397 G A rs34561493 INPP4B Synonymous SNV S673S 0.083 0.102 0.078 43 98 39 0.11 23 5 1 0 1 10.56 19370 chr15 63353451 63353451 A G rs144700226 TPM1 Synonymous SNV A170A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Benign 7.329 19371 chr15 51791525 51791525 G A rs774515934 DMXL2 Nonsynonymous SNV S1299L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.232 19372 chr17 16892334 16892334 C T rs57096150 LINC02090 0 0 0.173 0 0 0 0 51 0 0 5 0 7.41 19373 chr15 39880818 39880818 C T rs41338344 THBS1 Synonymous SNV N521N 0.054 0.073 0.044 21 63 28 0.054 13 1 1 0 1 Benign 12.68 19374 chr4 144135718 144135718 G A rs4285045 USP38 Synonymous SNV R863R 0.657 0.654 0.68 263 771 251 0.674 200 260 84 69 84 2.908 19375 chr17 1690752 1690752 G A rs11549830 SMYD4 Nonsynonymous SNV R562W 0.309 0.346 0.306 132 363 133 0.338 90 53 23 15 15 28.8 19376 chr4 144442611 144442611 T C rs11100790 SMARCA5 Synonymous SNV Y94Y 0.192 0.188 0.194 73 225 72 0.187 57 29 9 8 5 0.073 19377 chr4 79437155 79437155 C T rs3749487 FRAS1 Synonymous SNV T3459T 0.235 0.229 0.207 101 276 88 0.259 61 28 9 5 19 Benign 12.18 19378 chr4 144442735 144442735 C T rs11541117 SMARCA5 Synonymous SNV L136L 0.342 0.32 0.408 143 402 123 0.367 120 113 33 27 33 13.23 19379 chr17 1703543 1703543 G C rs3809875 SMYD4 Nonsynonymous SNV P382R 0.325 0.286 0.34 109 381 110 0.279 100 59 18 11 14 23.3 19380 chr4 144467104 144467104 T C rs13139128 SMARCA5 Synonymous SNV N808N 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 5.1 19381 chr4 79447763 79447763 T C rs34670941 FRAS1 Nonsynonymous SNV V3626A 0.082 0.073 0.095 26 96 28 0.067 28 4 0 2 0 Benign 0.318 19382 chr17 1703982 1703982 C T rs9913923 SMYD4 Nonsynonymous SNV G236S 0.112 0.102 0.133 42 131 39 0.108 39 6 4 4 2 0.004 19383 chr4 144542212 144542212 G A rs185792698 FREM3 Synonymous SNV I1919I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 19384 chr4 144542213 144542213 A G rs17017968 FREM3 Nonsynonymous SNV I1919T 0.009 0.016 0.014 0 11 6 0 4 0 0 0 0 3.211 19385 chr17 1704296 1704296 C A rs7224496 SMYD4 Nonsynonymous SNV R131I 0.434 0.477 0.422 180 509 183 0.462 124 106 43 24 36 24.3 19386 chr4 144617397 144617397 A T rs6840796 FREM3 Nonsynonymous SNV Y1478N 0.013 0.018 0.014 1 15 7 0.003 4 0 0 0 0 0.022 19387 chr15 50494779 50494779 A G rs144192537 SLC27A2 Nonsynonymous SNV I262V 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 6.157 19388 chr17 171098 171098 T G rs73971738 RPH3AL Synonymous SNV A62A 0.15 0.161 0.126 68 176 62 0.174 37 12 3 2 4 10.56 19389 chr15 52567851 52567851 G A rs55686434 MYO5C Nonsynonymous SNV R172C 0.068 0.042 0.027 24 80 16 0.062 8 4 1 0 1 34 19390 chr4 144617842 144617842 G T rs1545437 FREM3 Synonymous SNV I1329I 0.377 0.383 0.405 136 443 147 0.349 119 89 33 26 27 7.086 19391 chr17 171137 171137 C A rs78269977 RPH3AL Synonymous SNV P49P 0.097 0.117 0.095 52 114 45 0.133 28 5 0 2 2 11.54 19392 chr15 45559715 45559715 G A rs200507671 SLC28A2 Synonymous SNV A335A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.02 19393 chr4 144618610 144618610 G C rs1034494 FREM3 Nonsynonymous SNV F1073L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.034 19394 chr17 17168164 17168164 G A rs3182911 COPS3 Synonymous SNV I86I 0.401 0.409 0.374 177 471 157 0.454 110 88 32 23 40 13.11 19395 chr15 50776525 50776525 T C rs10220843 USP8 Synonymous SNV F619F 0.043 0.042 0.037 25 51 16 0.064 11 1 0 0 1 Benign 9.946 19396 chr4 80905990 80905990 C G rs12647691 ANTXR2 Nonsynonymous SNV A357P 0.742 0.763 0.711 284 871 293 0.728 209 328 110 78 105 Benign 1.672 19397 chr17 1731268 1731268 T C rs8067660 SMYD4 Synonymous SNV E7E 0.759 0.763 0.762 290 891 293 0.744 224 335 110 85 107 0.308 19398 chr15 32322929 32322929 G A rs2292571 CHRNA7 Synonymous SNV A44A 0.127 0.109 0.109 57 149 42 0.146 32 9 2 2 1 14.17 19399 chr17 1733399 1733399 A G rs5030749 RPA1 Synonymous SNV Q4Q 0.595 0.573 0.728 224 699 220 0.574 214 293 91 76 91 7.822 19400 chr4 144619921 144619921 C T rs72940301 FREM3 Synonymous SNV G636G 0.013 0.018 0.014 1 15 7 0.003 4 0 0 0 0 7.949 19401 chr17 17409560 17409560 C T rs7946 PEMT Nonsynonymous SNV V190M 0.632 0.641 0.582 278 742 246 0.713 171 247 86 48 97 22.1 19402 chr4 144620758 144620758 C T rs61427459 FREM3 Synonymous SNV P357P 0.376 0.38 0.405 136 441 146 0.349 119 89 33 26 27 4.792 19403 chr4 144621199 144621199 A G rs11100802 FREM3 Synonymous SNV L210L 0.382 0.396 0.412 139 448 152 0.356 121 91 35 27 28 1.107 19404 chr17 17682484 17682484 G A rs1006656 SMCR5 0 0 0.84 0 0 0 0 247 0 0 100 0 2.32 19405 chr17 17696531 17696531 G C rs3803763 RAI1 Nonsynonymous SNV G90A 0.417 0.396 0.412 179 489 152 0.459 121 101 33 19 40 Benign 0.001 19406 chr4 144621779 144621779 A G rs55935372 FREM3 Nonsynonymous SNV V17A 0.335 0.336 0.32 129 393 129 0.331 94 93 35 25 27 0.136 19407 chr17 17696755 17696755 C A rs11649804 RAI1 Nonsynonymous SNV P165T 0.393 0.365 0.378 176 461 140 0.451 111 92 28 15 39 Benign 22.5 19408 chr4 145659064 145659064 T C rs11727676 HHIP Synonymous SNV I686I 0.104 0.133 0.061 45 122 51 0.115 18 3 3 1 5 3.627 19409 chr15 40558064 40558064 A G rs2412504 BUB1B-PAK6, PAK6 Nonsynonymous SNV M76V 0.101 0.091 0.088 37 119 35 0.095 26 5 0 0 3 0.001 19410 chr4 146572227 146572227 G A rs11721553 MMAA Synonymous SNV S249S 0.129 0.122 0.099 36 151 47 0.092 29 11 1 1 2 Benign/Likely benign 16.84 19411 chr17 17697094 17697096 CAG - rs371983878 RAI1 Q291del 0.113 0.148 0.109 41 133 57 0.105 32 0 0 0 0 19412 chr4 147560457 147560457 - GGC rs530695040 POU4F2 G68_R69insG 0.699 0.661 0.582 294 821 254 0.754 171 362 111 66 133 19413 chr17 17697099 17697100 GC - rs35068024 RAI1 Q280Afs*108 0.385 0.365 0.371 171 452 140 0.438 109 87 28 16 35 19414 chr15 40558482 40558482 A G rs3743135 BUB1B-PAK6, PAK6 Nonsynonymous SNV H215R 0.101 0.089 0.088 37 119 34 0.095 26 5 0 0 3 0.001 19415 chr4 147788709 147788709 C T rs10013280 TTC29 Nonsynonymous SNV A276T 0.286 0.31 0.269 117 336 119 0.3 79 45 14 7 13 24.5 19416 chr17 17697102 17697102 G - rs34083643 RAI1 Q280Hfs*84 0.383 0.365 0.364 168 450 140 0.431 107 87 28 15 34 19417 chr4 83582064 83582064 G T rs3733228 SCD5 Nonsynonymous SNV L246M 0.244 0.266 0.259 87 286 102 0.223 76 36 14 9 9 4.785 19418 chr15 42281719 42281719 G A rs1668579 PLA2G4E Synonymous SNV G539G 0.266 0.292 0.306 96 312 112 0.246 90 38 21 11 9 12.35 19419 chr17 17698254 17698254 G A rs8067439 RAI1 Synonymous SNV P664P 0.537 0.544 0.544 188 631 209 0.482 160 165 61 42 42 Benign 1.061 19420 chr15 64508763 64508763 G A rs6494466 CSNK1G1 Synonymous SNV L148L 0.369 0.404 0.354 154 433 155 0.395 104 77 32 19 24 14.53 19421 chr17 17700573 17700573 T C rs4925112 RAI1 Synonymous SNV P1437P 0.036 0.052 0.102 11 42 20 0.028 30 1 0 1 0 Benign 0.002 19422 chr4 147824864 147824864 G A rs17610219 TTC29 Nonsynonymous SNV H140Y 0.357 0.37 0.357 145 419 142 0.372 105 75 20 17 26 1.906 19423 chr17 17700792 17700792 C T rs35686634 RAI1 Synonymous SNV P1510P 0.034 0.055 0.102 11 40 21 0.028 30 1 0 1 0 Benign 0.213 19424 chr15 64706332 64706332 A G rs34758599 TRIP4 Synonymous SNV P134P 0.068 0.083 0.058 38 80 32 0.097 17 3 1 0 3 7.134 19425 chr17 17896090 17896090 C T rs4368210 DRC3 Synonymous SNV L152L 0.418 0.424 0.415 183 491 163 0.469 122 96 40 24 43 7.71 19426 chr4 148461037 148461037 T C rs5333 EDNRA Synonymous SNV H214H 0.271 0.292 0.265 86 318 112 0.221 78 46 13 17 11 0.433 19427 chr17 17896205 17896205 C T rs4584886 DRC3 Nonsynonymous SNV R191W 0.418 0.424 0.415 183 491 163 0.469 122 96 40 24 43 33 19428 chr15 52353498 52353498 C G rs35697691 MAPK6 Nonsynonymous SNV L290V 0.08 0.096 0.082 30 94 37 0.077 24 2 3 2 0 20.4 19429 chr4 148461073 148461073 G A rs5334 EDNRA Synonymous SNV E226E 0.271 0.292 0.269 86 318 112 0.221 79 46 13 17 11 10.6 19430 chr4 148834277 148834277 C T rs140550063 ARHGAP10 Synonymous SNV A405A 0.015 0.01 0.017 3 18 4 0.008 5 0 0 0 0 Benign 16.94 19431 chr15 42371891 42371891 G A rs145134059 PLA2G4D Synonymous SNV Y387Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.428 19432 chr17 17907768 17907768 C T rs11656629 DRC3 Nonsynonymous SNV A364V 0.027 0.042 0.065 14 32 16 0.036 19 0 0 1 0 0.068 19433 chr15 64967654 64967654 C T rs16948170 ZNF609 Synonymous SNV A867A 0.068 0.086 0.082 37 80 33 0.095 24 4 1 1 3 6.033 19434 chr4 149356516 149356516 A G rs5525 NR3C2 Synonymous SNV D499D 0.918 0.932 0.935 349 1078 358 0.895 275 494 168 128 155 Benign 0.098 19435 chr15 40648372 40648372 T C rs12900982 PHGR1 Synonymous SNV G39G 0.094 0.073 0.095 39 110 28 0.1 28 15 1 4 3 0.002 19436 chr17 17921995 17921995 C T rs33997182 ATPAF2 Synonymous SNV Q246Q 0.025 0.039 0.051 14 29 15 0.036 15 0 0 1 0 Benign/Likely benign 14.23 19437 chr4 149357475 149357475 C T rs5522 NR3C2 Nonsynonymous SNV V180I 0.918 0.93 0.935 349 1078 357 0.895 275 494 167 128 155 Benign 0.002 19438 chr17 17948475 17948475 G A rs2955355 GID4 Synonymous SNV G151G 0.579 0.573 0.582 206 680 220 0.528 171 189 69 49 54 8.641 19439 chr15 52517099 52517099 G A rs201708880 MYO5C Nonsynonymous SNV R1149C 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 33 19440 chr17 18023897 18023897 G A rs2955365 MYO15A Nonsynonymous SNV A595T 0.418 0.417 0.398 180 491 160 0.462 117 94 40 23 42 Benign 23.1 19441 chr4 151177340 151177340 C T rs13152819 DCLK2 Nonsynonymous SNV P748S 0.957 0.961 0.857 377 1124 369 0.967 252 548 179 124 184 0.018 19442 chr15 52517714 52517714 C T rs3825801 MYO5C Nonsynonymous SNV E1075K 0.08 0.078 0.078 40 94 30 0.103 23 5 3 1 2 23.2 19443 chr15 42438355 42438355 G A rs151028116 PLA2G4F Nonsynonymous SNV R502C 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 15.29 19444 chr17 18024013 18024013 A G rs2955366 MYO15A Synonymous SNV P633P 0.417 0.409 0.395 179 490 157 0.459 116 94 40 23 42 Benign 0.001 19445 chr4 151177341 151177341 C G rs13152820 DCLK2 Nonsynonymous SNV P748R 0.957 0.961 0.857 377 1124 369 0.967 252 548 179 124 184 0.07 19446 chr17 18052867 18052867 T C rs2955379 MYO15A Synonymous SNV F2395F 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 6.266 19447 chr15 55970041 55970041 A G rs11854213 PRTG Synonymous SNV N445N 0.115 0.094 0.143 40 135 36 0.103 42 6 1 3 2 0.158 19448 chr15 42439444 42439444 C T rs111633028 PLA2G4F Nonsynonymous SNV A433T 0.059 0.06 0.088 20 69 23 0.051 26 1 0 1 2 22.8 19449 chr17 18137141 18137141 A G rs2290505 LLGL1 Nonsynonymous SNV S148G 0.759 0.732 0.776 253 891 281 0.649 228 343 106 85 78 0.003 19450 chr4 152201018 152201018 - CAGGT rs148861921 PRSS48 Frameshift insertion S44Rfs*21 0.425 0.398 0.412 147 499 153 0.377 121 107 30 25 26 19451 chr4 152212603 152212603 T G rs2407221 PRSS48 X329E 0.974 0.971 0.966 384 1143 373 0.985 284 557 181 137 189 2.857 19452 chr15 50279679 50279679 G C rs199543753 ATP8B4 Nonsynonymous SNV D219E 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 13.76 19453 chr17 18141428 18141428 C T rs763236973 LLGL1 Nonsynonymous SNV S651F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 19454 chr17 181474 181474 T C rs12953074 LOC100506388 0.906 0.904 0.918 354 1064 347 0.908 270 482 156 124 161 2.444 19455 chr4 152498625 152498625 C T rs17275536 FAM160A1 Synonymous SNV H43H 0.33 0.331 0.381 144 387 127 0.369 112 58 18 21 22 9.618 19456 chr15 50534514 50534514 T G rs2073440 HDC Nonsynonymous SNV E611D 0.02 0.026 0.034 10 23 10 0.026 10 0 0 0 0 21.4 19457 chr15 52611451 52611451 A G rs2290332 MYO5A Synonymous SNV D1628D 0.155 0.128 0.173 49 182 49 0.126 51 11 4 4 4 Benign 0.087 19458 chr17 18157031 18157031 C T rs771928880 FLII Nonsynonymous SNV V174M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.4 19459 chr4 84370091 84370091 A G rs13141136 HELQ Synonymous SNV L346L 0.289 0.24 0.303 128 339 92 0.328 89 60 14 16 30 8.952 19460 chr4 153690842 153690842 T C rs4696354 TIGD4 Nonsynonymous SNV I439V 0.583 0.549 0.588 227 684 211 0.582 173 208 58 54 65 0.001 19461 chr15 50534832 50534832 A G rs1549521 HDC Synonymous SNV N505N 0.021 0.026 0.044 10 25 10 0.026 13 0 0 2 0 0.002 19462 chr17 18775900 18775900 A G rs4393623 PRPSAP2 Synonymous SNV T59T 0.602 0.651 0.578 239 707 250 0.613 170 220 88 50 75 0.111 19463 chr4 153896358 153896358 C T rs3811833 FHDC1 Nonsynonymous SNV R639C 0.791 0.815 0.762 302 929 313 0.774 224 368 129 85 121 20.7 19464 chr15 50544871 50544871 G A rs34406040 HDC Synonymous SNV A296A 0.014 0.018 0.034 9 17 7 0.023 10 0 0 0 0 15.12 19465 chr17 18855611 18855611 T C rs2076562 SLC5A10 Synonymous SNV N31N 0.629 0.599 0.592 244 738 230 0.626 174 223 73 49 74 14.44 19466 chr17 18874685 18874685 - GGT rs3071666 FAM83G D819_R820insH 0.536 0.573 0.609 216 629 220 0.554 179 177 59 50 60 19467 chr17 18874720 18874720 C G rs916823 FAM83G Synonymous SNV S808S 0.535 0.57 0.616 213 628 219 0.546 181 177 59 51 59 5.529 19468 chr4 153897770 153897770 G A rs3811832 FHDC1 Synonymous SNV T1109T 0.756 0.792 0.724 287 888 304 0.736 213 337 122 78 110 9.091 19469 chr17 18880268 18880268 C A rs2472715 SLC5A10 Synonymous SNV I289I 0.286 0.31 0.313 110 336 119 0.282 92 58 13 15 18 18.56 19470 chr4 154197234 154197234 T G rs2289409 TRIM2 Synonymous SNV T108T 0.257 0.263 0.218 112 302 101 0.287 64 39 9 6 17 0.06 19471 chr17 19232078 19232078 T C rs6587220 EPN2 Nonsynonymous SNV V116A 0.968 0.992 0.98 384 1136 381 0.985 288 549 189 141 189 0.076 19472 chr15 42579949 42579949 G A rs145853612 GANC Nonsynonymous SNV E88K 0.028 0.021 0.007 4 33 8 0.01 2 2 0 0 0 Benign 33 19473 chr4 154216710 154216710 G A rs893805 TRIM2 Synonymous SNV T317T 0.493 0.539 0.476 211 579 207 0.541 140 145 49 35 53 2.623 19474 chr15 50867142 50867142 C T rs16963774 TRPM7 Synonymous SNV G1641G 0.062 0.044 0.061 41 73 17 0.105 18 2 0 0 1 12.32 19475 chr17 19247075 19247075 G A rs4924987 B9D1 Nonsynonymous SNV H187Y 0.77 0.805 0.728 296 904 309 0.759 214 349 129 80 115 Benign 3.415 19476 chr4 154513627 154513627 A G rs7669418 TMEM131L Nonsynonymous SNV I605V 0.283 0.247 0.228 92 332 95 0.236 67 41 10 9 13 0.016 19477 chr17 1940232 1940232 A G rs1131600 DPH1 Nonsynonymous SNV K86R 0.123 0.117 0.122 62 144 45 0.159 36 15 1 1 6 9.169 19478 chr15 65553246 65553246 C T rs2304896 PARP16 Synonymous SNV V155V 0.223 0.224 0.272 82 262 86 0.21 80 24 8 12 10 16.07 19479 chr17 1943880 1943880 C G rs35394823 DPH1 Nonsynonymous SNV L195V 0.066 0.063 0.075 17 77 24 0.044 22 5 0 0 0 25.6 19480 chr4 154513722 154513722 C T rs7669741 TMEM131L Synonymous SNV H636H 0.282 0.247 0.228 92 331 95 0.236 67 41 10 9 13 7.203 19481 chr4 154514965 154514965 T C rs17370297 TMEM131L Nonsynonymous SNV M646T 0.281 0.247 0.224 92 330 95 0.236 66 41 10 9 13 10.76 19482 chr17 1943888 1943888 T C rs2236375 DPH1 Synonymous SNV P197P 0.789 0.768 0.748 307 926 295 0.787 220 367 112 82 122 0.183 19483 chr15 65676617 65676617 T C rs2292933 IGDCC4 Synonymous SNV P1161P 0.348 0.383 0.367 139 408 147 0.356 108 72 31 19 18 7.125 19484 chr17 19552403 19552403 A G rs147190807 ALDH3A2 Nonsynonymous SNV D40G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 19485 chr15 65684533 65684533 A G rs2277582 IGDCC4 Synonymous SNV A687A 0.162 0.156 0.112 63 190 60 0.162 33 16 8 1 2 2.102 19486 chr4 154624656 154624656 T C rs3804099 TLR2 Synonymous SNV N199N 0.401 0.398 0.418 171 471 153 0.438 123 97 33 20 40 0.006 19487 chr15 42681199 42681199 G A rs1801449 CAPN3 Nonsynonymous SNV A236T 0.062 0.065 0.082 15 73 25 0.038 24 4 0 3 0 Benign 14.9 19488 chr4 154631543 154631543 A T rs2405432 RNF175 Nonsynonymous SNV I322N 0.997 0.995 0.99 389 1171 382 0.997 291 584 190 144 194 7.922 19489 chr15 65689267 65689267 T C rs12442757 IGDCC4 Nonsynonymous SNV N301S 0.178 0.167 0.18 70 209 64 0.179 53 17 9 2 4 0.262 19490 chr17 19578873 19578873 A T rs7216 ALDH3A2 Stop gain R404X 0.589 0.555 0.558 232 692 213 0.595 164 203 57 46 71 Benign 12.15 19491 chr4 154709854 154709854 G A rs4643790 SFRP2 Nonsynonymous SNV A45V 0.199 0.185 0.187 83 234 71 0.213 55 19 6 3 13 23.2 19492 chr4 88534065 88534065 G A rs3750025 DSPP Nonsynonymous SNV D243N 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 Benign 23 19493 chr15 42742435 42742435 T C rs34792942 ZNF106 Nonsynonymous SNV M656V 0.091 0.109 0.092 31 107 42 0.079 27 6 3 0 2 0.001 19494 chr17 1960377 1960377 G A rs147657937 HIC1 Synonymous SNV K150K 0.013 0.01 0.017 3 15 4 0.008 5 1 0 0 0 11.99 19495 chr15 54306835 54306835 C T rs202199076 UNC13C Synonymous SNV L579L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.277 19496 chr17 19608773 19608773 G A rs4925042 SLC47A2 Synonymous SNV Y295Y 0.382 0.354 0.374 154 448 136 0.395 110 90 22 24 23 0.606 19497 chr15 57731573 57731573 C T rs7182648 CGNL1 Nonsynonymous SNV S459F 0.212 0.198 0.299 87 249 76 0.223 88 24 4 13 10 10.41 19498 chr15 66214785 66214785 G A rs11637551 MEGF11 Synonymous SNV H616H 0.066 0.047 0.051 15 78 18 0.038 15 3 0 1 0 5.267 19499 chr4 154709856 154709856 A C rs6535952 SFRP2 Synonymous SNV P44P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.004 19500 chr17 1960974 1960974 C T rs77393586 HIC1 Synonymous SNV R349R 0.114 0.104 0.112 58 134 40 0.149 33 9 2 1 6 16.02 19501 chr17 19617236 19617236 G T rs4924792 SLC47A2 Synonymous SNV G115G 0.417 0.393 0.398 162 490 151 0.415 117 98 31 23 30 10.04 19502 chr4 155156207 155156207 G A rs7655799 DCHS2 Synonymous SNV D3199D 0.899 0.911 0.881 350 1056 350 0.897 259 473 161 113 158 7.695 19503 chr17 19642952 19642952 G C rs2228100 ALDH3A1 Nonsynonymous SNV P329A 0.323 0.32 0.354 129 379 123 0.331 104 56 20 21 13 8.414 19504 chr4 155219318 155219318 C T rs28561984 DCHS2 Nonsynonymous SNV E2050K 0.21 0.188 0.194 85 246 72 0.218 57 32 6 8 12 10.36 19505 chr15 41099819 41099819 C T rs76010310 ZFYVE19 Nonsynonymous SNV P11L 0.035 0.031 0.02 10 41 12 0.026 6 1 1 0 1 18.73 19506 chr4 88732692 88732692 G A rs1054627 IBSP Nonsynonymous SNV G195E 0.298 0.299 0.323 112 350 115 0.287 95 59 10 13 20 11.88 19507 chr17 19645938 19645938 A C rs887241 ALDH3A1 Nonsynonymous SNV S134A 0.624 0.607 0.639 244 733 233 0.626 188 229 73 61 77 0.05 19508 chr4 155219361 155219361 A G rs17031387 DCHS2 Synonymous SNV D2035D 0.21 0.188 0.207 85 246 72 0.218 61 32 6 9 12 6.193 19509 chr15 44846782 44846782 C A rs753912691 EIF3J Nonsynonymous SNV T60K 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 32 19510 chr15 55619796 55619796 T C rs2290344 PIGB Nonsynonymous SNV M162T 0.092 0.099 0.146 46 108 38 0.118 43 8 3 4 3 13.51 19511 chr4 155219662 155219662 G C rs17031394 DCHS2 Nonsynonymous SNV T1935R 0.21 0.188 0.207 84 246 72 0.215 61 32 6 9 12 0.005 19512 chr17 19713740 19713740 C T rs150122 ULK2 Nonsynonymous SNV V370M 0.972 0.964 0.983 380 1141 370 0.974 289 557 179 143 185 1.743 19513 chr15 66612965 66612965 T C rs17851970 DIS3L Synonymous SNV N281N 0.319 0.323 0.364 128 374 124 0.328 107 56 18 17 21 8.403 19514 chr4 155243573 155243573 C T rs13109747 DCHS2 Synonymous SNV S1362S 0.917 0.917 0.888 363 1077 352 0.931 261 500 162 116 170 11.69 19515 chr15 42984327 42984327 C T rs1054274383 STARD9 Synonymous SNV G3517G 0.004 0 0 0 5 0 0 0 0 0 0 0 13.43 19516 chr17 19729495 19729495 T C rs157397 ULK2 Synonymous SNV A264A 0.974 0.966 0.976 379 1144 371 0.972 287 557 179 141 184 7.729 19517 chr15 66621346 66621346 A G rs17258507 DIS3L Nonsynonymous SNV N621S 0.107 0.099 0.109 43 126 38 0.11 32 4 3 3 0 2.049 19518 chr17 19812541 19812541 T C rs203462 AKAP10 Nonsynonymous SNV I588V 0.323 0.344 0.357 136 379 132 0.349 105 61 20 22 23 risk factor 8.255 19519 chr4 155243604 155243604 T C rs1352714 DCHS2 Nonsynonymous SNV N1352S 0.974 0.979 0.966 379 1144 376 0.972 284 557 184 137 185 2.099 19520 chr15 66629394 66629394 T C rs34848112 TIPIN Nonsynonymous SNV N169D 0.107 0.099 0.109 43 126 38 0.11 32 4 3 3 0 6.309 19521 chr15 55759193 55759193 T C rs600753 DNAAF4 Nonsynonymous SNV E191G 0.459 0.445 0.401 184 539 171 0.472 118 141 39 31 54 Benign 18.97 19522 chr4 88732918 88732918 A T rs1054629 IBSP Nonsynonymous SNV E270D 0.299 0.299 0.316 115 351 115 0.295 93 59 10 13 21 22.9 19523 chr17 19861458 19861458 C T rs2108978 AKAP10 Nonsynonymous SNV R249H 0.322 0.344 0.357 136 378 132 0.349 105 60 20 22 23 8.872 19524 chr4 155244402 155244405 TTTG - rs140019361 DCHS2 N1365Kfs*3 0.918 0.917 0.881 362 1078 352 0.928 259 501 162 115 169 19525 chr4 155244475 155244475 G T rs12500437 DCHS2 Nonsynonymous SNV P1342H 0.918 0.917 0.881 363 1078 352 0.931 259 501 162 115 170 0.049 19526 chr15 66641417 66641417 T C rs11856320 TIPIN Synonymous SNV E51E 0.107 0.099 0.105 43 126 38 0.11 31 4 3 3 0 2.325 19527 chr17 20884868 20884868 C T rs11654680 LOC339260 0 0 0.449 0 0 0 0 132 0 0 30 0 4.363 19528 chr15 55838506 55838506 G A rs11858599 PYGO1 Synonymous SNV S325S 0.07 0.076 0.071 21 82 29 0.054 21 1 2 0 1 3.086 19529 chr15 52903772 52903772 T C rs8036680 FAM214A Nonsynonymous SNV Q142R 0.095 0.115 0.119 48 112 44 0.123 35 1 1 1 0 21.2 19530 chr17 20885000 20885000 A T rs8082210 LOC339260 0 0 0.449 0 0 0 0 132 0 0 30 0 3.201 19531 chr4 155256205 155256205 G A rs6858712 DCHS2 Nonsynonymous SNV S843L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.643 19532 chr17 20911204 20911204 G T rs11541311 USP22 Synonymous SNV I403I 0.196 0.221 0.19 79 230 85 0.203 56 17 6 8 10 13.25 19533 chr15 55838585 55838585 G T rs11858624 PYGO1 Nonsynonymous SNV P299H 0.07 0.076 0.071 21 82 29 0.054 21 1 2 0 1 11.67 19534 chr4 89311962 89311962 T C rs12510688 HERC6 Nonsynonymous SNV C199R 0.113 0.107 0.071 45 133 41 0.115 21 5 3 2 5 23.2 19535 chr17 2091765 2091765 C T rs903160 SMG6 Nonsynonymous SNV A64T 0.29 0.32 0.354 111 341 123 0.285 104 51 20 17 16 22.9 19536 chr15 43256191 43256191 T C rs3917223 UBR1 Nonsynonymous SNV T1548A 0.089 0.091 0.075 28 104 35 0.072 22 4 0 1 0 Benign 23.2 19537 chr15 66793795 66793795 G A rs146070182 RPL4 Synonymous SNV N198N 0.043 0.036 0.02 12 50 14 0.031 6 1 0 0 0 10.23 19538 chr4 155287535 155287535 T C rs10017772 DCHS2 Nonsynonymous SNV H768R 0.486 0.451 0.452 185 570 173 0.474 133 140 37 33 47 0.459 19539 chr15 66821250 66821250 A G rs11071896 ZWILCH Nonsynonymous SNV S230G 0.29 0.31 0.364 114 341 119 0.292 107 50 17 15 17 3.073 19540 chr4 89319296 89319296 T C rs17014118 HERC6 Nonsynonymous SNV F343L 0.209 0.169 0.194 73 245 65 0.187 57 23 11 5 9 5.347 19541 chr17 20924523 20924523 G A rs2291037 USP22 Synonymous SNV Y107Y 0.788 0.786 0.786 316 925 302 0.81 231 362 115 91 125 9.608 19542 chr17 21202191 21202191 C A rs33911218 MAP2K3 Nonsynonymous SNV P11T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 Benign 24.8 19543 chr4 155410822 155410822 G A rs4696593 DCHS2 Synonymous SNV S562S 0.486 0.471 0.483 190 570 181 0.487 142 139 44 35 51 5.513 19544 chr4 155411065 155411065 T C rs7656522 DCHS2 Synonymous SNV L481L 0.689 0.664 0.66 263 809 255 0.674 194 279 84 66 96 0.001 19545 chr17 21202198 21202198 G A rs139443409 MAP2K3 Nonsynonymous SNV R13Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 19546 chr15 67500946 67500946 C T rs117853536 AAGAB Synonymous SNV R114R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 11.38 19547 chr4 155411104 155411104 A C rs6536016 DCHS2 Synonymous SNV S468S 0.998 1 0.98 388 1172 384 0.995 288 585 192 141 193 0.001 19548 chr4 89577214 89577214 A T rs2972040 HERC3 Nonsynonymous SNV K366M 0.227 0.221 0.218 83 266 85 0.213 64 36 11 11 11 3.387 19549 chr15 56207811 56207811 T G rs62043855 NEDD4 Nonsynonymous SNV N407H 0.166 0.156 0.146 56 195 60 0.144 43 18 6 3 6 12.08 19550 chr17 21202237 21202237 G C rs36047035 MAP2K3 Nonsynonymous SNV R26T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 Benign 20.8 19551 chr15 44898257 44898257 A G rs139532029 SPG11 Synonymous SNV F1162F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.51 19552 chr4 155459194 155459194 A T rs7668818 PLRG1 Synonymous SNV I397I 0.312 0.286 0.357 144 366 110 0.369 105 72 20 18 28 6.066 19553 chr4 89607905 89607905 A G rs3737488 HERC3 Synonymous SNV L724L 0.082 0.089 0.071 40 96 34 0.103 21 4 2 3 2 6.539 19554 chr15 44907562 44907562 T C rs111347025 SPG11 Nonsynonymous SNV K1013E 0.035 0.021 0.01 11 41 8 0.028 3 1 0 0 0 Benign 15.76 19555 chr4 155461113 155461113 T C rs7671792 PLRG1 Synonymous SNV Q335Q 0.351 0.32 0.371 154 412 123 0.395 109 71 20 18 27 2.173 19556 chr15 56208535 56208535 G A rs12440230 NEDD4 Synonymous SNV N165N 0.166 0.156 0.146 56 195 60 0.144 43 18 6 3 6 6.582 19557 chr17 21203893 21203893 T C rs34105301 MAP2K3 Nonsynonymous SNV S39P 0.5 0.497 0.5 195 587 191 0.5 147 0 0 0 0 Benign 16.52 19558 chr4 89618837 89618837 T C rs710834 NAP1L5 Synonymous SNV A23A 0.341 0.339 0.32 129 400 130 0.331 94 78 22 17 23 6.858 19559 chr4 155720274 155720274 T C rs156502 RBM46 Synonymous SNV N320N 0.414 0.445 0.446 150 486 171 0.385 131 108 40 21 30 0.017 19560 chr15 68124665 68124665 C A rs72751453 SKOR1 Synonymous SNV R881R 0.422 0.406 0.398 177 496 156 0.454 117 109 28 19 43 23 19561 chr4 89625427 89625427 G C rs1804080 HERC3 Nonsynonymous SNV E828Q 0.153 0.146 0.122 68 180 56 0.174 36 18 7 4 4 24 19562 chr17 21203907 21203907 T C rs73311539 MAP2K3 Synonymous SNV R43R 0.24 0.229 0.289 90 282 88 0.231 85 0 0 0 0 Likely benign 1.744 19563 chr4 156135676 156135676 C T rs1047214 NPY2R Synonymous SNV I195I 0.482 0.469 0.534 202 566 180 0.518 157 138 37 43 54 9.794 19564 chr15 68502093 68502093 T C rs766500060 CLN6 Nonsynonymous SNV I183V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 9.016 19565 chr17 21203934 21203934 G A rs62057672 MAP2K3 Synonymous SNV V52V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 Likely benign 11.94 19566 chr15 56387859 56387859 T C rs3803459 RFX7 Synonymous SNV K592K 0.2 0.206 0.143 67 235 79 0.172 42 18 11 1 6 0.017 19567 chr4 156136027 156136027 C T rs2880415 NPY2R Synonymous SNV I312I 0.48 0.461 0.527 201 563 177 0.515 155 136 35 42 53 3.604 19568 chr4 89649659 89649659 A G rs9224 FAM13A-AS1 0.298 0.305 0.299 118 350 117 0.303 88 60 18 20 18 1.744 19569 chr17 21203941 21203941 G A rs2305873 MAP2K3 Nonsynonymous SNV A55T 0.269 0.26 0.279 100 316 100 0.256 82 0 0 0 0 Benign 23 19570 chr15 59408918 59408918 A G rs28383542 CCNB2 Synonymous SNV Q209Q 0.017 0.013 0 6 20 5 0.015 0 0 0 0 0 4.022 19571 chr4 156273768 156273768 T C rs2305050 MAP9 Nonsynonymous SNV N601D 0.463 0.453 0.439 188 543 174 0.482 129 125 39 33 48 7.487 19572 chr4 89653257 89653257 G A rs1801915 FAM13A Synonymous SNV D559D 0.151 0.146 0.122 66 177 56 0.169 36 18 7 4 4 2.362 19573 chr15 59409495 59409495 G A rs28376133 CCNB2 Synonymous SNV V301V 0.016 0.013 0.003 6 19 5 0.015 1 0 0 0 0 12.06 19574 chr15 42003316 42003316 G A rs61736063 MGA Synonymous SNV A951A 0.036 0.018 0.01 18 42 7 0.046 3 2 0 0 0 9.689 19575 chr17 21203949 21203949 C T rs62057673 MAP2K3 Synonymous SNV S57S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 Likely benign 18.02 19576 chr15 56388033 56388033 T C rs12439907 RFX7 Synonymous SNV L534L 0.249 0.25 0.177 90 292 96 0.231 52 35 17 4 13 1.016 19577 chr4 89668859 89668859 C T rs7657817 FAM13A Nonsynonymous SNV V415I 0.175 0.164 0.129 65 205 63 0.167 38 23 7 4 3 1.165 19578 chr15 59453384 59453384 T C rs2306791 MYO1E Synonymous SNV A891A 0.163 0.156 0.167 63 191 60 0.162 49 13 4 4 7 4.93 19579 chr4 156276289 156276289 C T rs2341894 MAP9 Synonymous SNV V438V 0.317 0.315 0.014 144 372 121 0.369 4 120 38 2 51 11.3 19580 chr17 21203964 21203964 C G rs34458870 MAP2K3 Synonymous SNV A62A 0.109 0.13 0.099 52 128 50 0.133 29 0 0 0 0 16.39 19581 chr15 56756285 56756285 T G rs1715919 MNS1 Nonsynonymous SNV Q55P 0.159 0.174 0.095 47 187 67 0.121 28 14 6 1 3 11.46 19582 chr17 21204187 21204187 G T rs56067280 MAP2K3 Nonsynonymous SNV R65L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 34 19583 chr4 156289900 156289900 C T rs3733390 MAP9 Synonymous SNV L182L 0.263 0.286 0.333 106 309 110 0.272 98 44 14 16 17 5.566 19584 chr15 68624290 68624290 G A rs2292745 ITGA11 Synonymous SNV D559D 0.078 0.078 0.071 28 91 30 0.072 21 8 1 1 0 4.881 19585 chr4 89670155 89670155 C T rs3756050 FAM13A Synonymous SNV P349P 0.245 0.25 0.241 92 288 96 0.236 71 42 11 12 10 15.84 19586 chr4 156289917 156289917 G A rs3733391 MAP9 Nonsynonymous SNV R177W 0.159 0.146 0.187 66 187 56 0.169 55 13 3 5 6 23.2 19587 chr4 90035549 90035549 A G rs2280099 TIGD2 Nonsynonymous SNV H475R 0.151 0.154 0.16 48 177 59 0.123 47 15 4 3 2 9.446 19588 chr17 21204192 21204192 C T rs56216806 MAP2K3 Nonsynonymous SNV R67W 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 35 19589 chr15 45392043 45392043 C T rs147772932 DUOX2 Nonsynonymous SNV V1078M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 19590 chr4 156632391 156632391 A G rs11944673 GUCY1A1 Synonymous SNV K358K 0.968 0.979 0.983 383 1136 376 0.982 289 549 184 142 188 0.058 19591 chr15 60884594 60884594 G T rs150952015 RORA Nonsynonymous SNV A8E 0.04 0.044 0.014 16 47 17 0.041 4 2 1 0 0 19.63 19592 chr17 21204210 21204210 C T rs55796947 MAP2K3 Stop gain Q73X 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 39 19593 chr4 156706482 156706482 G A rs1459853 GUCY1B1 0.696 0.716 0.684 281 817 275 0.721 201 284 94 74 100 2.794 19594 chr17 21204257 21204257 G A rs56166328 MAP2K3 Synonymous SNV T88T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 16.2 19595 chr15 62165553 62165553 T C rs17303887 VPS13C Synonymous SNV A3447A 0.065 0.07 0.061 18 76 27 0.046 18 1 1 1 0 10.11 19596 chr17 21204266 21204266 T C rs2230435 MAP2K3 Synonymous SNV C91C 0.553 0.531 0.514 209 649 204 0.536 151 62 12 4 14 0.683 19597 chr4 156787340 156787340 G A rs6848883 ASIC5 Synonymous SNV N13N 0.941 0.94 0.925 363 1105 361 0.931 272 519 170 126 169 3.099 19598 chr15 45951273 45951273 G A SQOR Nonsynonymous SNV G51E 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 29.5 19599 chr15 62165577 62165577 G A rs17303894 VPS13C Synonymous SNV T3439T 0.065 0.07 0.061 18 76 27 0.046 18 1 1 1 0 13.98 19600 chr17 21204290 21204290 G C rs2305872 MAP2K3 Synonymous SNV G99G 0.198 0.182 0.184 77 232 70 0.197 54 0 0 0 0 0.623 19601 chr4 94344042 94344042 G A rs10034345 GRID2 Nonsynonymous SNV V395I 0.072 0.057 0.095 37 85 22 0.095 28 2 0 1 1 22 19602 chr15 57835903 57835903 T G rs1620402 CGNL1 Nonsynonymous SNV L1101V 0.177 0.19 0.248 70 208 73 0.179 73 15 6 7 4 16.54 19603 chr4 156832715 156832715 A C rs116105292 TDO2 Nonsynonymous SNV N229H 0.025 0.021 0.048 8 29 8 0.021 14 0 1 1 1 23.3 19604 chr15 62174894 62174894 A G rs17303915 VPS13C Synonymous SNV I3132I 0.065 0.07 0.061 18 76 27 0.046 18 1 1 1 0 9.211 19605 chr17 21205460 21205460 C T rs62057721 MAP2K3 Synonymous SNV D106D 0.5 0.5 0.5 194 587 192 0.497 147 0 0 0 0 Likely benign 9.156 19606 chr15 62202482 62202482 C T rs10851704 VPS13C Nonsynonymous SNV S2870N 0.394 0.375 0.418 154 463 144 0.395 123 106 28 24 28 12.1 19607 chr4 95506842 95506842 G A rs11097431 PDLIM5 Synonymous SNV Q157Q 0.16 0.146 0.18 67 188 56 0.172 53 15 5 4 4 10.84 19608 chr15 57839587 57839587 A G rs16977594 CGNL1 Nonsynonymous SNV M1270V 0.015 0.031 0.017 6 18 12 0.015 5 0 0 0 0 0.094 19609 chr17 21207834 21207834 C T rs58609466 MAP2K3 Nonsynonymous SNV T193M 0.32 0.315 0.296 126 376 121 0.323 87 0 0 0 0 Benign 34 19610 chr4 157684248 157684248 T C rs3815861 PDGFC Synonymous SNV G344G 0.162 0.138 0.156 70 190 53 0.179 46 17 1 3 7 0.74 19611 chr4 158065038 158065038 T C rs12507409 GLRB Synonymous SNV T277T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.72 19612 chr17 21208413 21208413 C T rs1657695 MAP2K3 Synonymous SNV S220S 0.467 0.464 0.476 186 548 178 0.477 140 0 0 0 0 Likely benign 16.8 19613 chr15 62214607 62214607 C T rs12907567 VPS13C Nonsynonymous SNV V2279M 0.063 0.07 0.061 18 74 27 0.046 18 1 1 1 0 0.417 19614 chr17 21215483 21215483 C T rs55935757 MAP2K3 Synonymous SNV Y239Y 0.492 0.484 0.473 194 578 186 0.497 139 0 0 0 0 Likely benign 12.12 19615 chr4 158238830 158238830 T C rs4302506 GRIA2 Synonymous SNV H229H 0.603 0.609 0.609 243 708 234 0.623 179 214 70 57 77 2.089 19616 chr15 69548572 69548572 G A rs200151782 GLCE Nonsynonymous SNV V143M 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 16 19617 chr17 21215537 21215537 C A rs55736474 MAP2K3 Synonymous SNV S257S 0.5 0.5 0.493 195 587 192 0.5 145 0 0 0 0 Likely benign 16.71 19618 chr4 159076826 159076826 C T rs6830702 GASK1B Synonymous SNV S354S 0.864 0.792 0.847 333 1014 304 0.854 249 431 122 106 141 17.99 19619 chr15 62243197 62243197 T C rs11629598 VPS13C Nonsynonymous SNV I1452V 0.065 0.07 0.041 18 76 27 0.046 12 1 1 1 0 9.289 19620 chr17 21215552 21215552 C T rs56369732 MAP2K3 Synonymous SNV A262A 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 Likely benign 17.94 19621 chr4 159158677 159158677 G A rs12504074 TMEM144 Synonymous SNV V188V 0.126 0.138 0.143 56 148 53 0.144 42 9 3 4 3 13.74 19622 chr17 21215557 21215557 G A rs35206134 MAP2K3 Nonsynonymous SNV R264H 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 Benign 15.93 19623 chr4 159601676 159601676 C T rs11559290 ETFDH Nonsynonymous SNV T31I 0.889 0.883 0.884 348 1044 339 0.892 260 465 149 116 155 Benign 16.37 19624 chr15 62253791 62253791 T C rs2303405 VPS13C Nonsynonymous SNV Y1259C 0.068 0.073 0.051 21 80 28 0.054 15 1 1 1 1 12.86 19625 chr17 21216846 21216846 G C rs1657688 MAP2K3 Synonymous SNV L290L 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 Likely benign 9.933 19626 chr15 69696249 69696249 T C rs1394415 LOC145694 0.967 0.979 0.942 380 1135 376 0.974 277 552 184 133 186 1.968 19627 chr17 21217513 21217513 G A rs2363198 MAP2K3 Nonsynonymous SNV V310M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 Benign 26.1 19628 chr15 69728949 69728949 A G rs3825858 KIF23 Synonymous SNV P371P 0.969 0.979 0.946 380 1138 376 0.974 278 551 184 132 186 9.173 19629 chr15 42158373 42158373 G A rs56198158 SPTBN5 Nonsynonymous SNV R2229W 0.037 0.021 0.01 20 43 8 0.051 3 2 0 0 0 15.02 19630 chr4 159782889 159782889 G T rs62001915 FNIP2 Nonsynonymous SNV A122S 0.062 0.049 0.041 23 73 19 0.059 12 2 0 0 1 28.2 19631 chr15 49127134 49127134 G A rs1426199 SHC4 Synonymous SNV S523S 0.06 0.076 0.051 37 70 29 0.095 15 2 2 0 2 4.494 19632 chr17 21318663 21318663 G A rs72846666 KCNJ12, KCNJ18 Synonymous SNV A3A 0.5 0.5 0.483 192 587 192 0.492 142 0 0 0 0 5.492 19633 chr4 159881479 159881479 T C rs9784569 C4orf45 Synonymous SNV Q105Q 0.25 0.266 0.248 88 293 102 0.226 73 52 24 11 12 0.003 19634 chr15 62359914 62359914 C T rs12911068 C2CD4A Synonymous SNV T34T 0.06 0.063 0.058 17 71 24 0.044 17 1 1 0 0 16.39 19635 chr17 21318698 21318698 C T rs1657738 KCNJ12, KCNJ18 Nonsynonymous SNV S15L 0.499 0.497 0.493 193 586 191 0.495 145 0 0 0 0 23.5 19636 chr4 159894250 159894250 C T rs619128 C4orf45 Nonsynonymous SNV G93E 0.995 0.995 0.99 389 1168 382 0.997 291 581 190 145 194 0.005 19637 chr15 62360485 62360485 C G rs146097394 C2CD4A Nonsynonymous SNV R225G 0.032 0.029 0.003 14 37 11 0.036 1 1 1 0 0 13.38 19638 chr15 57896493 57896493 C T rs201832214 GCOM1, MYZAP Synonymous SNV T34T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.83 19639 chr17 21318770 21318770 G A rs3752033 KCNJ12, KCNJ18 Nonsynonymous SNV R39Q 0.365 0.393 0.374 143 429 151 0.367 110 0 0 0 0 25.8 19640 chr15 50152623 50152623 C T rs540983729 ATP8B4 Nonsynonymous SNV R1116Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.45 19641 chr4 159894305 159894305 T C rs662473 C4orf45 Nonsynonymous SNV S75G 0.995 0.995 0.997 389 1168 382 0.997 293 581 190 146 194 0.021 19642 chr17 21318773 21318773 G A rs3752034 KCNJ12, KCNJ18 Nonsynonymous SNV R40H 0.362 0.391 0.371 143 425 150 0.367 109 0 0 0 0 24 19643 chr15 59179584 59179584 C T rs367572128 SLTM Nonsynonymous SNV R826Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 28.7 19644 chr4 164048199 164048199 G C rs4691895 NAF1 Nonsynonymous SNV L368V 0.725 0.721 0.745 287 851 277 0.736 219 300 98 83 106 0.117 19645 chr17 21318782 21318782 G A rs78117732 KCNJ12, KCNJ18 Nonsynonymous SNV R43H 0.488 0.484 0.497 193 573 186 0.495 146 0 0 0 0 22.4 19646 chr4 164085425 164085425 T C rs4691896 NAF1 Nonsynonymous SNV I162V 0.705 0.698 0.741 279 828 268 0.715 218 299 98 83 105 0.002 19647 chr4 98902441 98902441 G A rs139988382 STPG2 Nonsynonymous SNV P214L 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 29.4 19648 chr17 21318867 21318867 G A rs73979893 KCNJ12, KCNJ18 Nonsynonymous SNV M71I 0.181 0.141 0.35 76 213 54 0.195 103 0 0 0 0 7.099 19649 chr15 42363023 42363023 C T rs76945765 PLA2G4D Synonymous SNV L645L 0.014 0.005 0.007 3 17 2 0.008 2 1 0 0 0 10.85 19650 chr15 71184278 71184278 G T rs2959174 THAP10 Synonymous SNV R112R 0.315 0.385 0.34 125 370 148 0.321 100 64 29 20 17 2.319 19651 chr4 164272703 164272703 G A rs11946004 NPY5R Synonymous SNV G426G 0.104 0.107 0.112 40 122 41 0.103 33 7 0 4 3 6.718 19652 chr17 21318897 21318897 G C rs1657739 KCNJ12, KCNJ18 Synonymous SNV R81R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1.287 19653 chr15 42373278 42373278 T C rs112869444 PLA2G4D Synonymous SNV S337S 0.014 0.005 0.01 3 17 2 0.008 3 1 0 0 0 0.284 19654 chr4 99027137 99027137 T C rs2865979 STPG2 Synonymous SNV L193L 0.426 0.466 0.184 156 500 179 0.4 54 109 42 18 31 3.35 19655 chr15 50782703 50782703 A G rs11638390 USP8 Nonsynonymous SNV T633A 0.233 0.263 0.238 88 274 101 0.226 70 38 13 12 9 0.001 19656 chr15 71184495 71184495 A G rs2955035 THAP10 Synonymous SNV G39G 0.328 0.391 0.347 127 385 150 0.326 102 64 29 20 17 16.34 19657 chr4 164435265 164435265 A C rs2304802 TMA16 Nonsynonymous SNV Q65P 0.391 0.393 0.388 132 459 151 0.338 114 90 28 21 20 7.408 19658 chr17 21318948 21318948 C T rs112314728 KCNJ12, KCNJ18 Synonymous SNV F98F 0.473 0.456 0.497 189 555 175 0.485 146 0 0 0 0 7.919 19659 chr15 42373325 42373325 C G rs77803799 PLA2G4D Nonsynonymous SNV V322L 0.014 0.005 0.01 3 17 2 0.008 3 1 0 0 0 3.081 19660 chr17 21318951 21318951 C T rs75757803 KCNJ12, KCNJ18 Synonymous SNV G99G 0.476 0.458 0.497 190 559 176 0.487 146 0 0 0 0 1.257 19661 chr4 99027184 99027184 T C rs2903150 STPG2 Nonsynonymous SNV I178V 0.426 0.466 0.075 156 500 179 0.4 22 109 42 7 31 1.212 19662 chr17 21318952 21318952 A G rs8076599 KCNJ12, KCNJ18 Nonsynonymous SNV I100V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 19663 chr15 71953045 71953045 G A rs62024298 THSD4 Synonymous SNV T83T 0.233 0.227 0.238 118 273 87 0.303 70 30 7 7 25 14.18 19664 chr4 164466824 164466824 C T rs13130399 MARCHF1 Synonymous SNV A148A 0.399 0.398 0.384 137 469 153 0.351 113 89 28 20 21 17.49 19665 chr15 42375963 42375963 T G rs113002577 PLA2G4D Synonymous SNV S162S 0.014 0.005 0.01 3 17 2 0.008 3 1 0 0 0 4.976 19666 chr4 99049593 99049593 A G rs17558193 STPG2 Nonsynonymous SNV Y125H 0.426 0.466 0.378 154 500 179 0.395 111 109 42 26 30 26.9 19667 chr15 51040384 51040384 T C rs61751063 SPPL2A Nonsynonymous SNV N126D 0.017 0.023 0 18 20 9 0.046 0 1 0 0 0 25.7 19668 chr17 21318969 21318969 C T rs79666990 KCNJ12, KCNJ18 Synonymous SNV I105I 0.491 0.477 0.497 190 576 183 0.487 146 0 0 0 0 11.17 19669 chr4 165800154 165800154 T C rs4541465 APELA Synonymous SNV F53F 0.554 0.552 0 225 650 212 0.577 0 159 61 0 59 Likely benign 14.36 19670 chr4 166021811 166021811 G C rs6536890 TMEM192 Synonymous SNV L136L 0.23 0.214 0.201 77 270 82 0.197 59 23 14 7 12 0.751 19671 chr17 21318981 21318981 C T rs9909970 KCNJ12, KCNJ18 Synonymous SNV H109H 0.492 0.482 0.497 190 578 185 0.487 146 0 0 0 0 3.331 19672 chr4 167012381 167012381 G A rs2654492 TLL1 Synonymous SNV L848L 0.97 0.969 0.946 379 1139 372 0.972 278 554 180 131 184 7.856 19673 chr17 21319007 21319007 G A rs1657740 KCNJ12, KCNJ18 Nonsynonymous SNV R118Q 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 5.932 19674 chr4 167012480 167012480 T C rs2646914 TLL1 Synonymous SNV A881A 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 6.541 19675 chr15 60803741 60803741 C T rs61740274 RORA Synonymous SNV Q113Q 0.08 0.112 0.095 37 94 43 0.095 28 5 0 1 1 12.5 19676 chr17 21319008 21319008 G C rs1657741 KCNJ12, KCNJ18 Synonymous SNV R118R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.004 19677 chr4 168155178 168155178 A G rs11557043 SPOCK3 Nonsynonymous SNV L10P 0.068 0.078 0.082 33 80 30 0.085 24 2 2 2 0 1.576 19678 chr17 21319069 21319069 G A rs76265595 KCNJ12, KCNJ18 Nonsynonymous SNV E139K 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 31 19679 chr4 169282355 169282355 T C rs2684348 DDX60L Nonsynonymous SNV M1646V 0.592 0.578 0.459 226 695 222 0.579 135 210 65 44 69 0.02 19680 chr15 72462255 72462255 C T rs34815962 GRAMD2A Nonsynonymous SNV A23T 0.021 0.013 0.017 4 25 5 0.01 5 0 0 0 0 14.57 19681 chr17 21319079 21319079 C A rs76518282 KCNJ12, KCNJ18 Nonsynonymous SNV T142N 0.371 0.352 0.306 135 435 135 0.346 90 0 0 0 0 23.7 19682 chr4 169294859 169294859 C T rs13133439 DDX60L Synonymous SNV G1578G 0.024 0.016 0.017 11 28 6 0.028 5 0 0 0 0 11.29 19683 chr15 64428559 64428559 G A rs1802376 SNX1 Nonsynonymous SNV D401N 0.036 0.047 0.031 12 42 18 0.031 9 1 1 1 0 28.3 19684 chr17 21319087 21319087 G A rs75029097 KCNJ12, KCNJ18 Nonsynonymous SNV G145S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 28.8 19685 chr4 169299528 169299528 T C rs13110927 DDX60L Nonsynonymous SNV N1488D 0.466 0.451 0.415 176 547 173 0.451 122 134 39 35 42 0.002 19686 chr17 21319110 21319110 G A rs77283567 KCNJ12, KCNJ18 Synonymous SNV T152T 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 10.78 19687 chr4 169315760 169315760 C A rs3749499 DDX60L Nonsynonymous SNV E1222D 0.986 0.987 0.99 385 1157 379 0.987 291 570 187 144 190 2.759 19688 chr17 21319121 21319121 C T rs1714864 KCNJ12, KCNJ18 Nonsynonymous SNV P156L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 29.3 19689 chr17 21319171 21319171 G A rs73313922 KCNJ12, KCNJ18 Nonsynonymous SNV D173N 0.462 0.464 0.425 175 542 178 0.449 125 0 0 0 0 24.2 19690 chr4 169336662 169336662 T C rs4692661 DDX60L Nonsynonymous SNV Y959C 1 1 0.949 389 1174 384 0.997 279 587 192 139 194 5.595 19691 chr15 41989025 41989025 C T rs140642216 MGA Nonsynonymous SNV A606V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 5.961 19692 chr15 42693879 42693881 GGA - rs746075428 CAPN3 E419del 0.002 0 0 0 2 0 0 0 0 0 0 0 19693 chr15 42702858 42702858 G A rs146923842 CAPN3 Nonsynonymous SNV D88N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 19694 chr17 21319208 21319208 C T rs73979896 KCNJ12, KCNJ18 Nonsynonymous SNV A185V 0.493 0.479 0.466 189 579 184 0.485 137 0 0 0 0 22.7 19695 chr4 169341435 169341435 A G rs2130145 DDX60L Nonsynonymous SNV C831R 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 0.134 19696 chr15 51975608 51975608 G A rs2305710 SCG3 Nonsynonymous SNV S125N 0.06 0.052 0.061 28 70 20 0.072 18 1 1 0 1 23.4 19697 chr17 21319230 21319230 G C rs1657742 KCNJ12, KCNJ18 Nonsynonymous SNV Q192H 0.499 0.5 0.497 195 586 192 0.5 146 0 0 0 0 21.3 19698 chr15 42979226 42979226 C G rs187974547 STARD9 Nonsynonymous SNV A1817G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.25 19699 chr4 169362557 169362557 C G rs13151700 DDX60L Nonsynonymous SNV V409L 0.434 0.388 0.405 146 509 149 0.374 119 117 29 23 27 13.77 19700 chr15 65153690 65153690 G A rs12595292 PLEKHO2 Synonymous SNV K83K 0.192 0.18 0.201 58 225 69 0.149 59 22 5 5 3 14.76 19701 chr4 100341861 100341861 C T rs971074 ADH7 Synonymous SNV R230R 0.125 0.156 0.126 65 147 60 0.167 37 10 7 3 5 15.47 19702 chr15 50279662 50279662 T C rs16963151 ATP8B4 Nonsynonymous SNV N225S 0.139 0.172 0.167 62 163 66 0.159 49 12 3 3 6 5.362 19703 chr15 62172907 62172907 T C rs12901055 VPS13C Synonymous SNV Q3258Q 0.053 0.06 0.044 13 62 23 0.033 13 1 1 1 0 0.002 19704 chr17 21319251 21319251 C T rs73313923 KCNJ12, KCNJ18 Synonymous SNV N199N 0.5 0.497 0.497 195 587 191 0.5 146 0 0 0 0 9.994 19705 chr15 65157482 65157482 C T rs2010875 PLEKHO2 Nonsynonymous SNV P240S 0.201 0.185 0.204 59 236 71 0.151 60 24 5 5 3 0.264 19706 chr15 52233771 52233771 T G rs2570267 LEO1 Nonsynonymous SNV K641Q 0.022 0.01 0 5 26 4 0.013 0 0 0 0 0 0.349 19707 chr17 21319272 21319272 C T rs73313926 KCNJ12, KCNJ18 Synonymous SNV D206D 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 9.898 19708 chr4 169369820 169369820 T A rs2712113 DDX60L Synonymous SNV I369I 0.795 0.792 0.599 302 933 304 0.774 176 370 122 83 116 7.016 19709 chr15 50330979 50330979 C T rs150442623 ATP8B4 Synonymous SNV V116V 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 14.81 19710 chr17 21319285 21319285 C T rs72846667 KCNJ12, KCNJ18 Nonsynonymous SNV L211F 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 23.6 19711 chr4 169369853 169369853 A T rs2712114 DDX60L Synonymous SNV S358S 0.78 0.784 0.728 301 916 301 0.772 214 358 120 100 115 0.081 19712 chr15 73615878 73615878 C T rs117819825 HCN4 Synonymous SNV P852P 0.065 0.047 0.068 24 76 18 0.062 20 2 0 1 0 Benign 13.49 19713 chr4 169369920 169369920 C T rs12507582 DDX60L Nonsynonymous SNV C336Y 0.437 0.388 0.391 146 513 149 0.374 115 118 30 23 27 27.1 19714 chr4 100443853 100443853 A G rs17029090 C4orf17 Synonymous SNV P108P 0.017 0.016 0.01 9 20 6 0.023 3 0 0 0 0 0.125 19715 chr15 52433397 52433397 C T rs17612637 GNB5 Synonymous SNV K147K 0.065 0.068 0.058 29 76 26 0.074 17 2 1 2 1 18.14 19716 chr17 21319302 21319302 T C rs1657743 KCNJ12, KCNJ18 Synonymous SNV G216G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.123 19717 chr17 21319311 21319311 C T rs72846668 KCNJ12, KCNJ18 Synonymous SNV R219R 0.5 0.5 0.493 195 587 192 0.5 145 0 0 0 0 8.249 19718 chr4 100504575 100504575 G C rs2306986 MTTP Nonsynonymous SNV E125D 0.037 0.036 0.027 12 43 14 0.031 8 2 0 0 1 Benign/Likely benign 12.53 19719 chr15 43262756 43262756 T C rs927029938 UBR1 Synonymous SNV A1473A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.46 19720 chr15 52446200 52446200 G A rs6493537 GNB5 Synonymous SNV H62H 0.07 0.068 0.075 30 82 26 0.077 22 2 1 4 1 Benign 11.41 19721 chr17 21319369 21319369 G A rs77048459 KCNJ12, KCNJ18 Nonsynonymous SNV E239K 0.348 0.333 0.286 133 408 128 0.341 84 0 0 0 0 14.67 19722 chr4 169799448 169799448 A G rs62333013 PALLD Nonsynonymous SNV S136G 0.622 0.648 0.527 239 730 249 0.613 155 235 83 55 68 Benign 8.376 19723 chr15 65342438 65342438 T C rs768257916 SLC51B Synonymous SNV D32D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.22 19724 chr15 52446260 52446260 C T rs35581121 GNB5 Synonymous SNV A42A 0.066 0.065 0.058 29 77 25 0.074 17 2 1 2 1 Benign 16.62 19725 chr15 44085785 44085785 A G rs777347701 SERF2 Nonsynonymous SNV Q43R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 19726 chr15 50774131 50774131 G C USP8 Nonsynonymous SNV E481Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 19727 chr17 21319392 21319392 G A rs73979899 KCNJ12, KCNJ18 Synonymous SNV L246L 0.499 0.497 0.493 195 586 191 0.5 145 0 0 0 0 4.695 19728 chr15 52497993 52497993 G T rs77561658 CERNA1 0.072 0.076 0.054 32 84 29 0.082 16 4 0 2 2 7.491 19729 chr4 169799543 169799543 C T rs753092219 PALLD Synonymous SNV P167P 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 19730 chr4 100510903 100510903 A G rs3792683 MTTP Nonsynonymous SNV N193S 0.037 0.036 0.027 12 43 14 0.031 8 2 0 0 1 Benign/Likely benign 7.999 19731 chr17 21319399 21319399 A G rs4985866 KCNJ12, KCNJ18 Nonsynonymous SNV I249V 0.35 0.38 0.35 140 411 146 0.359 103 0 0 0 0 3.696 19732 chr4 169835134 169835134 A G rs1059444 PALLD Synonymous SNV R169R 0.137 0.125 0.136 44 161 48 0.113 40 12 7 3 1 Benign 7.641 19733 chr15 50911951 50911951 G A rs56337706 TRPM7 Synonymous SNV D495D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 11.8 19734 chr4 169928842 169928842 G T rs2877380 CBR4 Nonsynonymous SNV L70M 0.759 0.789 0.724 300 891 303 0.769 213 337 124 81 113 19.68 19735 chr4 100512412 100512412 T C rs982424 MTTP Synonymous SNV C201C 0.058 0.042 0.054 27 68 16 0.069 16 3 0 1 2 Benign 2.007 19736 chr17 21319407 21319407 C T rs16962951 KCNJ12, KCNJ18 Synonymous SNV I251I 0.345 0.331 0.289 131 405 127 0.336 85 0 0 0 0 13 19737 chr17 2186100 2186100 C T rs749240 SMG6 Synonymous SNV Q834Q 0.342 0.398 0.425 124 402 153 0.318 125 68 26 23 14 10.44 19738 chr17 2203025 2203025 T G rs1885987 SMG6 Nonsynonymous SNV N341T 0.451 0.411 0.35 192 529 158 0.492 103 125 31 19 45 3.212 19739 chr4 170077789 170077789 A G rs10518039 SH3RF1 Synonymous SNV Y145Y 0.293 0.258 0.354 126 344 99 0.323 104 50 13 20 16 0.016 19740 chr15 74336633 74336633 T C rs5742915 PML Nonsynonymous SNV F645L 0.485 0.505 0.524 166 569 194 0.426 154 145 44 45 35 0.078 19741 chr4 170581570 170581570 G A rs4692739 CLCN3 Nonsynonymous SNV S17N 0.999 0.99 0.993 389 1173 380 0.997 292 586 189 145 194 13.22 19742 chr4 100575398 100575398 C T rs17029269 C4orf54 Synonymous SNV S136S 0.033 0.029 0.031 9 39 11 0.023 9 1 0 0 0 10.58 19743 chr17 2203175 2203175 C G rs1885986 SMG6 Nonsynonymous SNV R291P 0.41 0.378 0.337 174 481 145 0.446 99 97 26 17 41 26.5 19744 chr4 100575483 100575483 G T rs13114983 C4orf54 Nonsynonymous SNV T108N 0.033 0.029 0.031 9 39 11 0.023 9 1 0 0 0 0.158 19745 chr4 170634390 170634390 C T rs1058868 CLCN3 Synonymous SNV I743I 0.137 0.133 0.163 46 161 51 0.118 48 13 3 4 1 16.85 19746 chr17 2203348 2203348 T C rs216194 SMG6 Synonymous SNV P233P 0.817 0.771 0.782 322 959 296 0.826 230 390 112 90 129 0.002 19747 chr4 173232805 173232805 G A rs9312524 GALNTL6 Synonymous SNV E96E 0.173 0.182 0.16 59 203 70 0.151 47 17 5 3 3 6.117 19748 chr17 2203453 2203453 A G rs216193 SMG6 Synonymous SNV A198A 0.615 0.568 0.554 247 722 218 0.633 163 220 57 41 78 0.002 19749 chr15 74536401 74536403 AAG - rs10552820 CCDC33 K34del 0.612 0.596 0.548 230 718 229 0.59 161 218 67 52 70 19750 chr17 2290345 2290345 G A rs61742229 MNT Synonymous SNV A533A 0.03 0.031 0.037 14 35 12 0.036 11 2 0 1 1 8.495 19751 chr4 173873256 173873256 G A rs61737890 GALNTL6 Synonymous SNV E406E 0.004 0.01 0.01 4 5 4 0.01 3 0 0 0 0 8.524 19752 chr15 52667641 52667641 G A rs769710517 MYO5A Nonsynonymous SNV R813C 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 35 19753 chr15 74622678 74622678 G A rs1564782 CCDC33 Nonsynonymous SNV S73N 0.521 0.549 0.476 224 612 211 0.574 140 198 65 51 80 0.063 19754 chr15 42169129 42169129 G A rs55757140 SPTBN5 Synonymous SNV A1243A 0.054 0.065 0.051 16 63 25 0.041 15 1 0 0 0 3.029 19755 chr17 2318550 2318550 G C rs4613098 LOC284009 0 0 0.197 0 0 0 0 58 0 0 3 0 1.933 19756 chr4 174090004 174090004 G A rs3733477 GALNT7 Synonymous SNV G6G 0.67 0.677 0.633 263 787 260 0.674 186 275 94 61 90 13.57 19757 chr15 42170578 42170578 G A rs747779 SPTBN5 Synonymous SNV H1144H 0.053 0.07 0.054 15 62 27 0.038 16 1 0 0 0 0.076 19758 chr15 63131091 63131091 C T rs140301741 TLN2 Nonsynonymous SNV L2471F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 19759 chr4 101401162 101401164 AAC - rs367883693 EMCN V33del 0.077 0.083 0.051 37 90 32 0.095 15 1 2 0 3 19760 chr17 2318695 2318695 G A rs4790335 LOC284009 0 0 0.585 0 0 0 0 172 0 0 56 0 0.371 19761 chr4 175184199 175184199 T C rs150094030 FBXO8 Synonymous SNV Q15Q 0.002 0.005 0.007 4 2 2 0.01 2 0 0 0 0 0.001 19762 chr15 42171483 42171483 G A rs1197682 SPTBN5 Nonsynonymous SNV H1053Y 0.051 0.07 0.048 14 60 27 0.036 14 1 0 0 0 2.968 19763 chr17 25628820 25628820 T C rs6561 WSB1 Nonsynonymous SNV L16S 0.501 0.479 0.469 206 588 184 0.528 138 137 40 34 51 3.874 19764 chr4 175225452 175225452 G A rs4695918 CEP44 Nonsynonymous SNV G147S 0.563 0.542 0.537 225 661 208 0.577 158 198 63 43 55 0.002 19765 chr17 25909850 25909850 G T rs2293181 KSR1 Synonymous SNV L233L 0.445 0.445 0.476 169 523 171 0.433 140 116 38 32 40 0.02 19766 chr15 75130093 75130093 T C rs12898397 ULK3 Nonsynonymous SNV K445R 0.537 0.474 0.51 217 630 182 0.556 150 161 41 37 60 21.1 19767 chr17 25931718 25931718 G C rs55646895 KSR1 Nonsynonymous SNV Q526H 0.025 0.023 0.037 4 29 9 0.01 11 1 0 0 0 14.36 19768 chr15 45408041 45408041 C A rs369628826 DUOXA2 Synonymous SNV G64G 0.002 0 0 0 2 0 0 0 0 0 0 0 19.89 19769 chr4 103611845 103611845 C T rs227368 MANBA Nonsynonymous SNV V253I 0.477 0.5 0.541 199 560 192 0.51 159 124 50 49 55 Benign 6.838 19770 chr15 42178122 42178122 T C rs2280016 SPTBN5 Nonsynonymous SNV D444G 0.055 0.073 0.051 14 65 28 0.036 15 1 0 0 0 24.5 19771 chr4 175237408 175237408 T C rs1553669 CEP44 Synonymous SNV T351T 0.755 0.747 0.765 304 886 287 0.779 225 339 109 83 117 0.002 19772 chr15 75131959 75131959 A G rs936227 ULK3 Synonymous SNV F264F 0.535 0.479 0.33 217 628 184 0.556 97 160 41 34 59 0.865 19773 chr17 2606715 2606715 G A rs1065479 CLUH Synonymous SNV R124R 0.558 0.596 0.534 235 655 229 0.603 157 184 65 42 70 10.57 19774 chr4 175443156 175443156 C T rs1050145 HPGD Synonymous SNV Q52Q 0.352 0.37 0.439 129 413 142 0.331 129 69 26 28 28 Benign 12.83 19775 chr15 75189930 75189930 A G rs1130741 MPI Synonymous SNV V327V 0.479 0.385 0.395 174 562 148 0.446 116 117 29 21 38 Benign 9.159 19776 chr17 263294 263294 C G rs35229416 C17orf97 Nonsynonymous SNV D220E 0.339 0.307 0.255 131 398 118 0.336 75 81 24 12 24 0.001 19777 chr4 175598334 175598334 T C rs6812439 GLRA3 Synonymous SNV S274S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 1.122 19778 chr15 65680858 65680858 G A IGDCC4 Nonsynonymous SNV A925V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 19779 chr4 175688138 175688138 A G rs7696263 GLRA3 Synonymous SNV F81F 0.746 0.75 0.731 308 876 288 0.79 215 327 107 80 126 8.193 19780 chr17 26634156 26634156 T C rs116530945 KRT18P55 0 0 0.014 0 0 0 0 4 0 0 1 0 1.672 19781 chr4 104004064 104004064 T C rs79460377 BDH2 Synonymous SNV L185L 0.023 0.031 0.048 15 27 12 0.038 14 0 2 1 0 7.86 19782 chr17 26691321 26691321 A G rs9910163 SEBOX Nonsynonymous SNV L181S 0.779 0.789 0.85 302 914 303 0.774 250 361 120 110 118 6.893 19783 chr15 63548787 63548787 G A rs10851726 RAB8B Synonymous SNV G136G 0.16 0.161 0.156 51 188 62 0.131 46 16 4 3 1 9.518 19784 chr4 175688141 175688141 G A rs12651268 GLRA3 Synonymous SNV S80S 0.417 0.43 0.401 177 489 165 0.454 118 106 33 29 41 13.24 19785 chr4 104068584 104068584 T C rs141488085 CENPE Nonsynonymous SNV K1330E 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Pathogenic 12.88 19786 chr15 65739303 65739303 C A rs11009 DPP8 Synonymous SNV S756S 0.051 0.052 0.054 24 60 20 0.062 16 0 0 1 0 17.17 19787 chr4 177073026 177073026 G A rs4690661 WDR17 Nonsynonymous SNV A790T 0.997 1 0.99 389 1170 384 0.997 291 583 192 144 194 14.1 19788 chr17 26691916 26691916 T C rs2277667 SEBOX Synonymous SNV L31L 0.125 0.109 0.065 21 147 42 0.054 19 12 3 0 1 9.226 19789 chr17 26694483 26694483 A G rs2227728 VTN Synonymous SNV N448N 0.125 0.109 0.065 21 147 42 0.054 19 12 3 0 1 4.484 19790 chr15 65772698 65772698 T C rs352461 DPP8 Synonymous SNV L386L 0.052 0.06 0.054 24 61 23 0.062 16 0 0 1 0 1.284 19791 chr4 104511075 104511075 T G rs751765989 TACR3 Nonsynonymous SNV K388Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 17.71 19792 chr4 177082069 177082069 G C rs7693453 WDR17 Nonsynonymous SNV C889S 0.273 0.279 0.224 112 320 107 0.287 66 44 17 11 11 13.24 19793 chr17 26694861 26694861 G A rs704 VTN Nonsynonymous SNV T400M 0.438 0.49 0.548 178 514 188 0.456 161 105 47 49 44 0.029 19794 chr15 65856653 65856653 G A rs11539008 HACD3 Synonymous SNV T211T 0.158 0.169 0.173 68 186 65 0.174 51 9 5 6 3 9.994 19795 chr4 106196829 106196829 T G rs34402524 TET2 Nonsynonymous SNV L1721W 0.148 0.154 0.18 69 174 59 0.177 53 9 5 5 5 not provided 21.5 19796 chr4 177100644 177100644 G A rs11736872 WDR17 Nonsynonymous SNV A1256T 0.285 0.286 0.269 101 335 110 0.259 79 38 18 12 12 16.34 19797 chr15 65863917 65863917 A C rs2279854 HACD3 Nonsynonymous SNV M269L 0.052 0.057 0.051 24 61 22 0.062 15 0 0 1 0 17.27 19798 chr17 26699121 26699121 G C rs7212814 SARM1 Nonsynonymous SNV R23P 1 1 0.759 389 1174 384 0.997 223 587 192 111 194 4.877 19799 chr15 75499995 75499995 T G rs28509789 C15orf39 Nonsynonymous SNV S536A 0.362 0.388 0.418 133 425 149 0.341 123 81 23 30 24 0.004 19800 chr4 177113779 177113779 T C rs12502935 SPATA4 Synonymous SNV P229P 0.324 0.281 0.344 111 380 108 0.285 101 68 15 15 12 8.7 19801 chr17 26699195 26699195 - G rs11437592 SARM1 Frameshift insertion P48Rfs*32 0.995 1 0.759 389 1168 384 0.997 223 584 192 111 194 19802 chr15 65917355 65917355 T G rs35571449 SLC24A1 Nonsynonymous SNV L313V 0.052 0.057 0.051 24 61 22 0.062 15 0 0 1 0 Benign/Likely benign 0.003 19803 chr4 106510470 106510470 A G rs2276970 ARHGEF38 Nonsynonymous SNV M88V 0.103 0.122 0.099 50 121 47 0.128 29 7 1 3 0 10.26 19804 chr17 26699199 26699199 - C rs71135830 SARM1 Frameshift insertion E51Rfs*29 0.993 1 0.759 389 1166 384 0.997 223 583 192 111 194 19805 chr4 177113956 177113956 A G rs2291244 SPATA4 Synonymous SNV Y170Y 0.163 0.154 0.18 53 191 59 0.136 53 17 4 5 4 0.398 19806 chr17 26699206 26699206 A - rs11340312 SARM1 S52Vfs*60 0.995 1 0.745 389 1168 384 0.997 219 584 192 109 194 19807 chr4 177137988 177137988 C T rs6827525 ASB5 Synonymous SNV R281R 0.528 0.529 0.541 187 620 203 0.479 159 178 49 46 46 7.05 19808 chr15 65676726 65676726 C T rs33918653 IGDCC4 Nonsynonymous SNV C1125Y 0.151 0.161 0.153 58 177 62 0.149 45 13 5 4 5 24 19809 chr17 26699367 26699367 - C rs11437594 SARM1 Frameshift insertion A106Gfs*49 1 0.995 0.901 389 1174 382 0.997 265 587 191 132 194 19810 chr4 177605082 177605084 TCA - rs3062984 VEGFC 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19811 chr17 26708298 26708298 - GC rs374054341 SARM1 Frameshift insertion G183Vfs*64 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19812 chr4 178231152 178231152 C A rs10013040 NEIL3 Synonymous SNV R15R 0.277 0.247 0.252 105 325 95 0.269 74 41 16 7 11 22.5 19813 chr17 26708303 26708304 GT - rs781861456 SARM1 S184Rfs*95 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19814 chr15 65703625 65703625 C G rs34355056 IGDCC4 Nonsynonymous SNV A52P 0.17 0.201 0.187 69 200 77 0.177 55 20 10 6 4 0.711 19815 chr15 75909803 75909803 A G rs11547316 SNUPN Synonymous SNV D83D 0.115 0.141 0.054 43 135 54 0.11 16 7 0 4 1 9.417 19816 chr17 26708550 26708550 T C rs11658194 SARM1 Nonsynonymous SNV S266P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 22.8 19817 chr4 178256913 178256913 C G rs7689099 NEIL3 Nonsynonymous SNV P117R 0.198 0.19 0.19 70 232 73 0.179 56 24 7 4 3 22.8 19818 chr15 75932129 75932129 G T rs13737 IMP3 Synonymous SNV A127A 0.33 0.339 0.405 128 388 130 0.328 119 62 18 22 22 9.524 19819 chr15 52877108 52877108 T C FAM214A Nonsynonymous SNV M978V 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 22.3 19820 chr17 26708551 26708551 C G rs11652384 SARM1 Nonsynonymous SNV S266W 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 24.5 19821 chr4 178262784 178262784 A G rs34193982 NEIL3 Nonsynonymous SNV H286R 0.134 0.096 0.136 49 157 37 0.126 40 7 1 3 2 1.191 19822 chr15 45968435 45968435 T C rs1044032 SQOR Nonsynonymous SNV I264T 0.216 0.24 0.259 91 254 92 0.233 76 25 9 7 11 19.45 19823 chr17 26727722 26727722 A - rs561780114 SLC46A1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 19824 chr4 178274565 178274565 A G rs2048074 NEIL3 Synonymous SNV R381R 0.763 0.763 0.731 315 896 293 0.808 215 341 106 80 128 0.014 19825 chr17 26824156 26824156 A G rs11567842 SLC13A2 Nonsynonymous SNV I599V 0.38 0.362 0.354 140 446 139 0.359 104 93 24 25 22 0.662 19826 chr4 178274694 178274694 T G rs10007075 NEIL3 Synonymous SNV V424V 0.743 0.745 0.721 301 872 286 0.772 212 324 101 75 118 0.003 19827 chr4 107133919 107133919 A G rs17036613 TBCK Synonymous SNV G553G 0.156 0.143 0.156 55 183 55 0.141 46 15 4 4 3 7.41 19828 chr17 26864302 26864302 G C rs532648 FOXN1 Nonsynonymous SNV A599P 0.341 0.305 0.33 119 400 117 0.305 97 59 20 22 19 Benign 0.004 19829 chr4 107156462 107156462 C T rs34961213 TBCK Nonsynonymous SNV M408I 0.151 0.141 0.146 49 177 54 0.126 43 15 4 3 2 22.8 19830 chr4 178274750 178274750 C T rs13112358 NEIL3 Nonsynonymous SNV P443L 0.763 0.76 0.745 315 896 292 0.808 219 341 106 80 128 0.075 19831 chr17 26900817 26900817 T C rs145671545 ALDOC Nonsynonymous SNV N312S 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 14.83 19832 chr4 178274835 178274835 A C rs13112390 NEIL3 Nonsynonymous SNV Q471H 0.827 0.828 0.776 332 971 318 0.851 228 404 129 92 143 0.127 19833 chr17 26961856 26961856 C T rs187040249 KIAA0100 Nonsynonymous SNV A774T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 19834 chr4 178281754 178281754 G A rs1876268 NEIL3 Nonsynonymous SNV G520R 0.986 0.979 0.98 388 1158 376 0.995 288 571 185 141 193 9.165 19835 chr4 107279450 107279450 C T rs7654865 GIMD1 Nonsynonymous SNV V182I 0.153 0.13 0.153 51 180 50 0.131 45 15 4 3 2 7.548 19836 chr17 27009749 27009749 C T rs12051648 SUPT6H Synonymous SNV G534G 0.52 0.542 0.565 207 611 208 0.531 166 160 53 49 57 14.29 19837 chr15 66844129 66844129 T C rs753733040 LCTL Synonymous SNV K292K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 1.537 19838 chr4 178359960 178359960 G C rs2228119 AGA Nonsynonymous SNV T149S 0.997 0.995 0.98 389 1171 382 0.997 288 584 190 142 194 Benign 0.002 19839 chr17 27086489 27086489 G T FAM222B Nonsynonymous SNV T163N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 19840 chr4 107279482 107279482 T A rs12645490 GIMD1 Nonsynonymous SNV K171I 0.153 0.13 0.156 51 180 50 0.131 46 15 4 3 2 3.718 19841 chr15 45387256 45387256 G A DUOX2 Stop gain Q1425X 0 0.003 0 0 0 1 0 0 0 0 0 0 47 19842 chr15 66857141 66857141 G A rs141474589 LCTL Nonsynonymous SNV T52M 0.016 0.023 0.003 9 19 9 0.023 1 0 0 0 0 26.8 19843 chr17 27185827 27185827 C T rs2242345 ERAL1 Synonymous SNV D314D 0.781 0.797 0.823 316 917 306 0.81 242 362 125 98 126 13.49 19844 chr4 183549831 183549831 T G rs74199039 TENM3 Synonymous SNV G259G 0.091 0.112 0.109 41 107 43 0.105 32 7 1 1 3 Benign 9.692 19845 chr17 27422053 27422053 C T rs2320786 MYO18A Synonymous SNV A1470A 0.327 0.341 0.401 136 384 131 0.349 118 62 27 30 21 13.92 19846 chr17 27424316 27424316 G A rs8067806 MYO18A Synonymous SNV T1385T 0.155 0.164 0.231 68 182 63 0.174 68 12 5 12 8 12.15 19847 chr4 183652175 183652175 T C rs10866256 TENM3 Synonymous SNV D950D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 8.441 19848 chr15 78558585 78558586 AT - rs142025971 DNAJA4 Star tloss M1? 0.066 0.091 0.105 28 77 35 0.072 31 1 1 2 0 19849 chr17 27438469 27438469 G A rs8076604 MYO18A Nonsynonymous SNV A958V 0.445 0.474 0.527 191 522 182 0.49 155 118 44 43 42 33 19850 chr4 183674697 183674697 C T rs17263582 TENM3 Synonymous SNV G1319G 0.296 0.289 0.235 94 348 111 0.241 69 53 16 12 7 Benign 11.16 19851 chr15 78565478 78565478 C T rs7163689 DNAJA4 Synonymous SNV L119L 0.536 0.474 0.527 204 629 182 0.523 155 163 49 40 59 13.58 19852 chr4 184190233 184190233 G T rs11941467 WWC2 Nonsynonymous SNV A773S 0.137 0.172 0.184 62 161 66 0.159 54 6 3 4 6 13.51 19853 chr17 27441077 27441077 C G rs12601535 MYO18A Synonymous SNV P850P 0.52 0.557 0.585 208 611 214 0.533 172 162 64 53 48 12.06 19854 chr4 109084811 109084811 C T rs61751709 LEF1 Synonymous SNV S109S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 14.91 19855 chr15 66995716 66995716 C T rs149612008 SMAD6 Synonymous SNV G40G 0.053 0.029 0.031 25 62 11 0.064 9 4 0 2 2 Benign 13.4 19856 chr17 27835138 27835138 C T rs508706 TAOK1 Synonymous SNV A521A 0.9 0.893 0.895 349 1057 343 0.895 263 476 152 116 156 15.1 19857 chr4 109674116 109674116 A G rs1377210 ETNPPL Nonsynonymous SNV S127P 0.113 0.091 0.139 39 133 35 0.1 41 6 2 3 3 8.343 19858 chr4 184203886 184203886 G C rs3814422 WWC2 Nonsynonymous SNV D904H 0.388 0.354 0.401 146 455 136 0.374 118 84 27 23 33 12.09 19859 chr17 27869968 27869968 G A rs507577 TAOK1 Synonymous SNV T830T 0.474 0.482 0.408 182 557 185 0.467 120 133 45 32 40 11.48 19860 chr17 27889963 27889963 C G rs721479 ABHD15 Synonymous SNV P341P 0.162 0.208 0.228 73 190 80 0.187 67 18 9 5 7 12.2 19861 chr17 27889986 27889986 T C rs542939 ABHD15 Nonsynonymous SNV T334A 0.642 0.659 0.599 252 754 253 0.646 176 242 80 52 82 6.145 19862 chr4 110236644 110236644 C T rs13147935 COL25A1-DT 0.14 0.115 0 71 164 44 0.182 0 13 3 0 6 10.6 19863 chr4 184243528 184243528 G A rs7688467 CLDN24 Nonsynonymous SNV L18F 0.824 0.839 0.844 332 967 322 0.851 248 391 135 102 142 0.004 19864 chr4 110581363 110581363 T A rs4698744 MCUB Nonsynonymous SNV I63N 0.327 0.323 0.31 149 384 124 0.382 91 63 24 15 31 6.7 19865 chr17 27904711 27904711 G A rs11080105 GIT1 Synonymous SNV A311A 0.433 0.424 0.497 183 508 163 0.469 146 109 34 39 37 17.05 19866 chr4 184367559 184367561 CTG - rs10533201 CDKN2AIP A242del 0.678 0.659 0.636 269 796 253 0.69 187 260 85 57 94 19867 chr17 27959903 27959903 G A rs2289629 SSH2 Nonsynonymous SNV S743L 0.319 0.346 0.289 125 374 133 0.321 85 63 20 12 25 23.7 19868 chr4 184600601 184600601 A G rs4241779 TRAPPC11 Synonymous SNV A309A 0.387 0.344 0.361 152 454 132 0.39 106 87 28 20 34 Benign 7.958 19869 chr15 78841220 78841220 T C rs8053 PSMA4 Synonymous SNV H169H 0.705 0.706 0.66 291 828 271 0.746 194 300 101 66 112 1.555 19870 chr4 184614874 184614874 C T rs4862234 TRAPPC11 Synonymous SNV T790T 0.191 0.19 0.173 77 224 73 0.197 51 19 9 3 11 Benign 18.3 19871 chr15 78882925 78882925 G A rs16969968 CHRNA5 Nonsynonymous SNV D398N 0.458 0.448 0.429 153 538 172 0.392 126 113 35 28 34 drug response 15.07 19872 chr17 28296327 28296327 T G rs9897794 EFCAB5 Nonsynonymous SNV L181V 0.519 0.513 0.561 193 609 197 0.495 165 148 51 52 46 12.25 19873 chr4 184615117 184615117 A C rs62358032 TRAPPC11 Nonsynonymous SNV T812P 0.055 0.057 0.065 27 65 22 0.069 19 2 2 0 3 Benign 8.124 19874 chr4 110681505 110681505 C T rs2298749 CFI Synonymous SNV S268S 0.308 0.315 0.282 146 362 121 0.374 83 68 21 12 30 Benign 13.45 19875 chr15 78894339 78894339 G A rs1051730 CHRNA3 Synonymous SNV Y215Y 0.46 0.443 0.422 155 540 170 0.397 124 113 35 28 35 drug response 0.811 19876 chr17 28320248 28320248 T A rs4795524 EFCAB5 Nonsynonymous SNV I222K 0.964 0.974 0.98 374 1132 374 0.959 288 545 182 141 179 3.521 19877 chr4 185587165 185587165 A G rs2463447 PRIMPOL Nonsynonymous SNV Q39R 1 1 0.986 389 1174 384 0.997 290 587 192 144 194 8.973 19878 chr15 78911181 78911181 T C rs8040868 CHRNA3 Synonymous SNV V53V 0.502 0.487 0.456 169 589 187 0.433 134 141 44 31 37 4.668 19879 chr17 28407876 28407876 T G rs7221743 EFCAB5 Synonymous SNV G1101G 0.52 0.523 0.527 207 610 201 0.531 155 151 56 46 51 6.499 19880 chr4 185599489 185599489 G A rs34985821 PRIMPOL Synonymous SNV Q141Q 0.15 0.154 0.15 55 176 59 0.141 44 15 4 5 3 0.022 19881 chr17 28444183 28444183 A C rs6505162 MIR423 0.261 0.279 0.52 115 307 107 0.295 153 120 40 46 39 15.39 19882 chr17 28599609 28599609 T C rs368088469 BLMH Nonsynonymous SNV N333S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.536 19883 chr4 185615764 185615764 C A rs14969 PRIMPOL Nonsynonymous SNV T421K 0.164 0.159 0.163 61 193 61 0.156 48 17 4 4 3 0.024 19884 chr17 2866148 2866148 C T rs76817956 LOC101927911 0.046 0.031 0.02 15 54 12 0.038 6 5 1 1 2 8.535 19885 chr17 2868935 2868935 T C rs12950923 RAP1GAP2 Synonymous SNV L183L 0.834 0.813 0.844 310 979 312 0.795 248 409 131 106 124 5.204 19886 chr4 110791655 110791657 CTT - rs145776307 LRIT3 L585del 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 19887 chr4 185615768 185615768 T G rs3184982 PRIMPOL Synonymous SNV G422G 0.164 0.159 0.163 61 193 61 0.156 48 17 4 4 3 0.154 19888 chr15 79237247 79237247 C G rs1036938 CTSH Nonsynonymous SNV C26S 0.668 0.734 0.69 249 784 282 0.638 203 266 104 71 80 0.142 19889 chr17 2883588 2883588 C A rs17762452 RAP1GAP2 Nonsynonymous SNV L187M 0.339 0.307 0.344 124 398 118 0.318 101 64 19 17 20 21.1 19890 chr4 185634144 185634144 T C rs4616798 CENPU Nonsynonymous SNV I214M 0.153 0.156 0.099 60 180 60 0.154 29 17 4 4 3 0.004 19891 chr17 29111368 29111368 A G rs11867457 CRLF3 Nonsynonymous SNV L389P 0.158 0.13 0.177 56 186 50 0.144 52 16 3 7 3 24.9 19892 chr4 113345147 113345147 A G rs6533616 ALPK1 Nonsynonymous SNV N97D 0.114 0.099 0.126 40 134 38 0.103 37 8 0 1 1 16.16 19893 chr15 79296192 79296192 C T rs113161554 RASGRF1 Nonsynonymous SNV D33N 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 Likely benign 17.26 19894 chr4 185637699 185637699 A G rs6552804 CENPU Nonsynonymous SNV I157T 0.164 0.159 0.156 61 192 61 0.156 46 17 4 4 3 0.001 19895 chr17 2929392 2929392 G A rs55904912 RAP1GAP2 Synonymous SNV P599P 0.348 0.367 0.347 135 409 141 0.346 102 82 26 20 25 15.76 19896 chr15 57731293 57731293 C T rs144676801 CGNL1 Nonsynonymous SNV L366F 0.01 0.013 0.007 3 12 5 0.008 2 1 0 1 0 7.795 19897 chr4 113352075 113352075 A G rs73841022 ALPK1 Nonsynonymous SNV T380A 0.039 0.031 0.054 18 46 12 0.046 16 2 0 0 0 0.005 19898 chr17 2929674 2929674 T C rs12941934 RAP1GAP2 Synonymous SNV R617R 0.557 0.57 0.541 215 654 219 0.551 159 179 62 42 62 0.064 19899 chr4 185650154 185650154 G A rs6818447 CENPU Synonymous SNV F44F 0.164 0.161 0.163 63 192 62 0.162 48 17 4 4 3 8.805 19900 chr17 2930339 2930339 G A rs4790115 RAP1GAP2 Synonymous SNV P679P 0.348 0.365 0.344 133 408 140 0.341 101 82 25 20 24 11.4 19901 chr4 185655171 185655171 C T rs902174 CENPU Nonsynonymous SNV G16S 0.287 0.271 0.204 95 337 104 0.244 60 51 19 7 14 11.79 19902 chr4 113352397 113352397 G A rs2074388 ALPK1 Nonsynonymous SNV G487D 0.599 0.586 0.653 244 703 225 0.626 192 196 67 59 70 5.038 19903 chr17 29508775 29508775 G A rs1801052 NF1 Synonymous SNV L234L 0.731 0.75 0.772 275 858 288 0.705 227 312 108 87 99 Benign 6.43 19904 chr17 29646032 29646032 G A rs1129506 EVI2A Synonymous SNV S23S 0.654 0.651 0.684 248 768 250 0.636 201 238 78 65 80 Benign 0.871 19905 chr4 113352628 113352628 A G rs13148353 ALPK1 Nonsynonymous SNV H564R 0.633 0.617 0.704 263 743 237 0.674 207 224 73 69 82 0.591 19906 chr4 185655192 185655192 G C rs876839 CENPU Nonsynonymous SNV P9A 0.05 0.055 0.088 22 59 21 0.056 26 0 0 2 0 0.001 19907 chr17 2995994 2995994 T C rs769424 OR1D2 Synonymous SNV T99T 0.105 0.099 0.126 35 123 38 0.09 37 4 2 1 1 0.523 19908 chr17 2996217 2996217 C T rs769423 OR1D2 Nonsynonymous SNV R25Q 0.061 0.063 0.082 16 72 24 0.041 24 2 2 0 0 0.003 19909 chr4 113352832 113352832 C T rs35633116 ALPK1 Nonsynonymous SNV S632F 0.037 0.031 0.051 19 44 12 0.049 15 2 0 0 0 23.3 19910 chr4 185686032 185686032 C T rs2292898 ACSL1 Synonymous SNV L435L 0.662 0.706 0.626 268 777 271 0.687 184 270 93 58 98 12.82 19911 chr17 30183857 30183857 T C rs8068049 COPRS Nonsynonymous SNV S31G 0.873 0.867 0.854 330 1025 333 0.846 251 445 146 107 140 0.001 19912 chr4 185697684 185697684 C T rs141068555 ACSL1 Nonsynonymous SNV R203Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23 19913 chr4 113352899 113352899 G A rs2074379 ALPK1 Nonsynonymous SNV M654I 0.596 0.586 0.653 244 700 225 0.626 192 195 67 59 70 0.51 19914 chr17 30469614 30469614 C T rs376459993 LOC105371730 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 23.1 19915 chr4 186111639 186111639 T C rs1133657 CFAP97 Nonsynonymous SNV T238A 0.422 0.422 0.401 173 495 162 0.444 118 101 34 26 33 0.082 19916 chr4 113353052 113353052 C T rs17044681 ALPK1 Synonymous SNV S705S 0.129 0.109 0.15 56 152 42 0.144 44 11 1 2 2 15.49 19917 chr4 186112111 186112111 G A rs3108237 CFAP97 Synonymous SNV P80P 0.466 0.461 0.439 195 547 177 0.5 129 126 41 30 44 6.181 19918 chr4 113353285 113353285 T C rs11726117 ALPK1 Nonsynonymous SNV M783T 0.634 0.62 0.701 263 744 238 0.674 206 224 74 69 82 0.015 19919 chr17 30533970 30533970 A G rs16967164 RHOT1 Synonymous SNV E486E 0.189 0.224 0.218 97 222 86 0.249 64 23 11 4 15 7.151 19920 chr15 58860963 58860963 C A rs6074 LIPC Synonymous SNV T479T 0.092 0.094 0.068 40 108 36 0.103 20 6 0 3 2 Benign 16.38 19921 chr4 186112208 186112208 G T rs116632163 CFAP97 Nonsynonymous SNV T48K 0.032 0.023 0.024 17 37 9 0.044 7 0 0 0 0 22.5 19922 chr17 3101076 3101076 G C rs2241092 OR1A2 Synonymous SNV G88G 0.938 0.932 0.946 358 1101 358 0.918 278 516 167 131 163 0.002 19923 chr4 113359703 113359703 A G rs231247 ALPK1 Synonymous SNV R1006R 0.631 0.615 0.697 264 741 236 0.677 205 223 73 69 83 9.098 19924 chr17 3101590 3101590 C T rs2469791 OR1A2 Nonsynonymous SNV R260C 0.273 0.26 0.259 100 321 100 0.256 76 40 10 10 11 14.57 19925 chr4 186379371 186379371 G A rs7687202 CCDC110 Synonymous SNV Y753Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 19926 chr15 72502141 72502141 G A rs10514 PKM Synonymous SNV N72N 0.081 0.091 0.082 32 95 35 0.082 24 2 2 1 0 Benign 9.875 19927 chr15 59377964 59377964 T A RNF111 Nonsynonymous SNV L853I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.704 19928 chr4 186379899 186379899 G C rs35596415 CCDC110 Nonsynonymous SNV I577M 0.559 0.641 0.289 222 656 246 0.569 85 173 78 36 60 0.001 19929 chr17 3119008 3119008 T C rs4325604 OR1A1 Synonymous SNV L32L 0.904 0.922 0.881 347 1061 354 0.89 259 480 162 115 155 0.008 19930 chr15 71507565 71507565 G A rs78239928 THSD4 Synonymous SNV A97A 0.117 0.091 0.068 38 137 35 0.097 20 16 2 2 1 10.12 19931 chr17 3119673 3119673 A G rs769426 OR1A1 Synonymous SNV T253T 0.305 0.292 0.303 106 358 112 0.272 89 47 15 15 14 0.018 19932 chr4 186380243 186380243 A C rs59319722 CCDC110 Nonsynonymous SNV Y463D 0.554 0.638 0.371 221 650 245 0.567 109 174 77 42 60 0.004 19933 chr4 114257201 114257201 C T rs3736575 ANK2 Synonymous SNV R369R 0.104 0.094 0.15 41 122 36 0.105 44 6 1 2 1 Benign 16.42 19934 chr17 3119767 3119767 C T rs769427 OR1A1 Nonsynonymous SNV P285S 0.485 0.487 0.452 166 569 187 0.426 133 121 47 27 38 26 19935 chr15 81212521 81212521 T C rs2271160 CEMIP Synonymous SNV C628C 0.117 0.115 0.095 52 137 44 0.133 28 13 1 1 5 0.029 19936 chr15 72767214 72767214 - GGC rs1060499844 ARIH1 G90_P91insG 0.083 0.078 0.071 30 97 30 0.077 21 2 1 1 2 19937 chr4 114275942 114275942 C G rs3796928 ANK2 Synonymous SNV L2056L 0.039 0.029 0.037 9 46 11 0.023 11 0 0 0 0 Benign 0.349 19938 chr17 31618732 31618732 A G rs9893935 ASIC2 Synonymous SNV T134T 0.535 0.573 0.537 217 628 220 0.556 158 159 67 45 60 0.205 19939 chr4 186380295 186380295 A G rs36007437 CCDC110 Synonymous SNV N445N 0.47 0.56 0.48 189 552 215 0.485 141 115 60 42 41 0.001 19940 chr15 51012201 51012201 G C rs145209254 SPPL2A Nonsynonymous SNV T475S 0.008 0.016 0.007 1 9 6 0.003 2 0 0 0 0 23.8 19941 chr17 32483237 32483237 A G rs2228990 ASIC2 Synonymous SNV N105N 0.183 0.164 0.187 65 215 63 0.167 55 17 5 3 8 0.34 19942 chr15 59175965 59175965 A G rs77145198 SLTM Synonymous SNV H934H 0.067 0.081 0.068 38 79 31 0.097 20 3 0 1 3 2.563 19943 chr4 186380515 186380515 G A rs11132306 CCDC110 Nonsynonymous SNV S372F 0.56 0.641 0.612 221 658 246 0.567 180 174 77 53 60 0.002 19944 chr17 32483270 32483270 C G rs2228989 ASIC2 Synonymous SNV L94L 0.181 0.159 0.18 61 213 61 0.156 53 17 4 3 8 6.09 19945 chr15 59179264 59179264 G A rs2124203 SLTM Synonymous SNV G897G 0.067 0.081 0.065 38 79 31 0.097 19 3 0 1 3 11.03 19946 chr17 32647831 32647831 A C rs1133763 CCL8 Nonsynonymous SNV K69Q 0.147 0.164 0.156 74 173 63 0.19 46 13 4 3 6 23.1 19947 chr4 186380846 186380846 A T rs7698680 CCDC110 Nonsynonymous SNV L262M 0.56 0.643 0.616 222 658 247 0.569 181 174 77 53 60 0.001 19948 chr15 67692566 67692566 T C rs35933176 IQCH Nonsynonymous SNV Y331H 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 3.375 19949 chr17 32904480 32904480 G A rs887231 C17orf102 0.627 0.682 0.65 267 736 262 0.685 191 226 91 66 91 6.088 19950 chr15 51519985 51519985 A G CYP19A1 Nonsynonymous SNV F148L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 19951 chr17 32904586 32904586 C T rs887230 C17orf102 0.756 0.799 0.782 321 888 307 0.823 230 327 124 91 133 4.868 19952 chr4 186381115 186381115 G T rs7699687 CCDC110 Nonsynonymous SNV P172Q 0.56 0.638 0.616 221 658 245 0.567 181 174 76 53 60 0.001 19953 chr15 81592802 81592802 A G rs11073001 IL16 Synonymous SNV T344T 0.208 0.219 0.204 88 244 84 0.226 60 27 7 1 10 0.093 19954 chr4 114280145 114280145 G A rs142908806 ANK2 Synonymous SNV T3457T 0.014 0.008 0.02 5 16 3 0.013 6 0 0 0 0 Conflicting interpretations of pathogenicity 1.999 19955 chr15 62990971 62990971 C T rs12905981 TLN2 Synonymous SNV L498L 0.256 0.227 0.231 118 300 87 0.303 68 38 11 8 16 16.38 19956 chr17 33288363 33288363 C T rs9635769 CCT6B Nonsynonymous SNV R17Q 0.583 0.521 0.48 240 685 200 0.615 141 194 53 33 76 8.444 19957 chr4 114286207 114286207 T A rs66785829 ANK2 Nonsynonymous SNV V725D 0.014 0.008 0.02 5 17 3 0.013 6 0 0 0 0 Benign/Likely benign 24.7 19958 chr4 186381165 186381165 G A rs7699724 CCDC110 Synonymous SNV D155D 0.56 0.641 0.616 221 657 246 0.567 181 173 77 53 60 0.005 19959 chr4 186382206 186382206 A G rs11132309 CCDC110 Synonymous SNV D115D 0.554 0.633 0.52 221 650 243 0.567 153 172 77 51 60 3.528 19960 chr17 33288882 33288882 T G rs931196 ZNF830 Nonsynonymous SNV H99Q 0.991 0.979 0.983 385 1164 376 0.987 289 577 184 142 190 0.005 19961 chr4 114429407 114429407 C T rs11098193 CAMK2D Synonymous SNV S334S 0.221 0.253 0.245 90 259 97 0.231 72 29 13 12 6 20.6 19962 chr15 63111739 63111739 T C rs3816988 TLN2 Nonsynonymous SNV F2266L 0.158 0.159 0.15 73 185 61 0.187 44 16 6 3 5 23 19963 chr4 186423637 186423637 G A rs4635850 PDLIM3 Synonymous SNV V135V 0.801 0.797 0.833 288 940 306 0.738 245 372 125 104 109 Benign 10.8 19964 chr17 3336260 3336260 A G rs61739591 OR1E2 Synonymous SNV P292P 0.399 0.44 0.442 171 468 169 0.438 130 88 40 33 36 1.151 19965 chr15 81625028 81625028 C T rs8031046 TMC3 Nonsynonymous SNV R1012K 0.081 0.081 0.102 40 95 31 0.103 30 3 2 4 1 0.003 19966 chr4 187004074 187004074 C T rs3775291 TLR3 Nonsynonymous SNV L412F 0.266 0.229 0.286 100 312 88 0.256 84 45 7 14 12 Benign/Likely benign 23.8 19967 chr17 3337057 3337057 A G rs769431 OR1E2 Nonsynonymous SNV C27R 0.7 0.753 0.765 282 822 289 0.723 225 291 107 88 100 16.66 19968 chr15 63127983 63127983 G A rs8038919 TLN2 Synonymous SNV Q2392Q 0.112 0.122 0.112 50 131 47 0.128 33 9 5 2 2 7.062 19969 chr15 73075709 73075709 G A rs72737337 ADPGK-AS1 0.054 0.034 0 25 63 13 0.064 0 12 2 0 5 7.949 19970 chr15 63131117 63131117 T A rs937418 TLN2 Synonymous SNV A2479A 0.267 0.284 0.269 110 313 109 0.282 79 35 17 14 11 11.57 19971 chr15 55789910 55789910 C T rs17819126 DNAAF4 Nonsynonymous SNV V91I 0.042 0.042 0.048 16 49 16 0.041 14 2 0 0 0 Benign 16.23 19972 chr17 33448818 33448818 T C rs1871892 FNDC8 Nonsynonymous SNV S36P 0.699 0.742 0.684 268 821 285 0.687 201 289 106 71 91 6.266 19973 chr4 118975269 118975269 G A rs78812192 NDST3 Nonsynonymous SNV M68I 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 3.717 19974 chr4 187026395 187026395 C T rs73025977 FAM149A Synonymous SNV L55L 0.29 0.331 0.262 119 341 127 0.305 77 51 23 14 23 15.08 19975 chr15 74337019 74337019 T C rs777161077 PML Synonymous SNV S773S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.508 19976 chr15 73660505 73660505 C T rs143090627 HCN4 Nonsynonymous SNV G36E 0.107 0.112 0.071 44 126 43 0.113 21 11 4 1 6 Benign 17.45 19977 chr4 187074833 187074833 A G rs4862650 FAM149A Nonsynonymous SNV K41E 0.846 0.836 0.867 326 993 321 0.836 255 419 135 109 137 3.039 19978 chr17 33454415 33454415 C A rs2306508 FNDC8 Synonymous SNV T188T 0.405 0.424 0.412 160 475 163 0.41 121 99 31 22 30 14.07 19979 chr15 73766211 73766211 C T rs140303255 REC114 Synonymous SNV L66L 0.027 0.008 0.007 9 32 3 0.023 2 0 0 0 1 13.87 19980 chr17 33464864 33464864 C T rs7215209 NLE1 Nonsynonymous SNV R169K 0.721 0.771 0.728 276 847 296 0.708 214 303 118 77 95 13.02 19981 chr15 83447631 83447631 T G rs4779061 FSD2 Nonsynonymous SNV K333T 0.127 0.135 0.143 55 149 52 0.141 42 6 3 3 4 10.03 19982 chr15 68695349 68695349 G A rs11629460 ITGA11 Synonymous SNV N24N 0.128 0.122 0.109 59 150 47 0.151 32 12 5 0 1 10.61 19983 chr15 74622533 74622533 A G rs2277603 CCDC33 Nonsynonymous SNV M25V 0.137 0.154 0.16 72 161 59 0.185 47 11 5 3 3 4.104 19984 chr4 187077206 187077206 A G rs4862653 FAM149A Nonsynonymous SNV K146E 0.858 0.841 0.871 332 1007 323 0.851 256 432 136 110 140 7.24 19985 chr15 69006909 69006909 C T rs17852399 CORO2B Synonymous SNV S254S 0.014 0.008 0.02 5 16 3 0.013 6 0 0 0 0 15.09 19986 chr17 33469279 33469279 G C rs1471615 NLE1 Nonsynonymous SNV P6A 0.993 0.992 0.993 384 1166 381 0.985 292 582 190 145 191 1.375 19987 chr15 83455741 83455741 G A rs150338347 FSD2 Synonymous SNV F134F 0.008 0.003 0 9 9 1 0.023 0 0 0 0 0 5.476 19988 chr15 69011119 69011119 C T rs33913544 CORO2B Synonymous SNV I345I 0.272 0.286 0.235 96 319 110 0.246 69 44 18 10 13 11.55 19989 chr15 83499665 83499665 G A rs3814282 WHAMM Synonymous SNV P652P 0.089 0.104 0.105 41 105 40 0.105 31 5 2 2 2 6.148 19990 chr4 187078785 187078785 A G rs2276924 FAM149A Nonsynonymous SNV H214R 0.864 0.844 0.867 335 1014 324 0.859 255 436 137 109 143 0.001 19991 chr17 3352309 3352309 T C rs11556563 SPATA22 Nonsynonymous SNV Q112R 0.393 0.44 0.439 169 461 169 0.433 129 86 41 33 36 1.986 19992 chr15 83499766 83499766 G A rs3814281 WHAMM Nonsynonymous SNV R686H 0.107 0.125 0.15 45 126 48 0.115 44 5 2 2 2 9.774 19993 chr4 187078866 187078866 C T rs2276922 FAM149A Nonsynonymous SNV P241L 0.257 0.294 0.255 93 302 113 0.238 75 32 23 15 7 7.507 19994 chr17 33592591 33592591 C T rs11651240 SLFN5 Nonsynonymous SNV P787L 0.559 0.552 0.51 227 656 212 0.582 150 181 60 31 61 23.9 19995 chr15 74709975 74709975 G A rs2075589 SEMA7A Synonymous SNV Y155Y 0.158 0.151 0.15 81 185 58 0.208 44 15 5 4 10 11.51 19996 chr15 74473739 74473739 C T rs736118 STRA6 Nonsynonymous SNV M527I 0.077 0.089 0.075 24 90 34 0.062 22 2 4 2 0 Benign 16 19997 chr15 83519927 83519927 G A rs74416301 HOMER2 Synonymous SNV C273C 0.008 0.003 0 9 9 1 0.023 0 0 0 0 0 Benign 12.7 19998 chr4 119947985 119947985 G C rs12645298 SYNPO2 Nonsynonymous SNV G154A 0.227 0.237 0.201 90 266 91 0.231 59 28 12 5 9 0.002 19999 chr17 33689926 33689926 T C rs4796077 SLFN11 Nonsynonymous SNV N301D 0.965 0.958 0.976 371 1133 368 0.951 287 547 176 140 177 0.002 20000 chr4 187113041 187113041 C G rs1055138 CYP4V2 Nonsynonymous SNV L22V 0.455 0.448 0.476 181 534 172 0.464 140 117 39 33 43 Benign 0.005 20001 chr15 83657800 83657800 G T rs61738562 RAMAC Nonsynonymous SNV K10N 0.009 0.01 0.01 12 11 4 0.031 3 0 0 0 0 0.014 20002 chr15 75093422 75093422 C T rs33991421 CSK Synonymous SNV I264I 0.037 0.047 0.054 23 43 18 0.059 16 0 0 0 1 22 20003 chr15 63419699 63419699 A C rs34536322 LACTB Nonsynonymous SNV K255Q 0.013 0.013 0.003 6 15 5 0.015 1 0 0 0 0 2.795 20004 chr15 63981853 63981853 T C rs2228512 HERC1 Nonsynonymous SNV T1995A 0.014 0.01 0.01 2 16 4 0.005 3 1 0 0 0 9.371 20005 chr17 33690466 33690466 C A rs12453150 SLFN11 Nonsynonymous SNV V121F 0.582 0.594 0.588 210 683 228 0.538 173 207 70 52 63 0.008 20006 chr4 187120211 187120211 C A rs13146272 CYP4V2 Nonsynonymous SNV Q259K 0.578 0.594 0.571 222 679 228 0.569 168 203 72 47 65 Benign 7.317 20007 chr15 74560776 74560776 G T rs56107695 CCDC33 Nonsynonymous SNV G175C 0.129 0.109 0.119 57 151 42 0.146 35 8 3 3 3 17.95 20008 chr17 33749546 33749546 A G rs2586514 SLFN12 Nonsynonymous SNV C168R 0.566 0.529 0.537 213 665 203 0.546 158 194 57 41 61 0.002 20009 chr15 75131661 75131661 A G rs4886615 ULK3 Synonymous SNV A302A 0.681 0.643 0.663 269 799 247 0.69 195 258 78 64 90 2.303 20010 chr15 83781631 83781631 C T rs1989 TM6SF1 Nonsynonymous SNV P59S 0.161 0.172 0.099 36 189 66 0.092 29 12 10 1 3 21.6 20011 chr4 187122319 187122319 T G rs3736455 CYP4V2 Synonymous SNV A270A 0.592 0.607 0.582 228 695 233 0.585 171 210 76 50 69 Benign 8.721 20012 chr15 63893861 63893861 T A rs113839350 FBXL22 Synonymous SNV P240P 0.036 0.018 0.027 8 42 7 0.021 8 0 0 0 1 4.795 20013 chr17 33749919 33749919 A C rs1849733 SLFN12 Nonsynonymous SNV S43R 0.38 0.383 0.367 147 446 147 0.377 108 81 32 17 32 0.003 20014 chr4 187173012 187173012 T G rs4253301 KLKB1 Nonsynonymous SNV S381A 0.114 0.148 0.133 41 134 57 0.105 39 8 1 3 3 8.132 20015 chr15 84488636 84488636 A G rs4483821 ADAMTSL3 Nonsynonymous SNV H146R 0.495 0.516 0.531 194 581 198 0.497 156 144 45 42 55 0.001 20016 chr15 74622549 74622549 G T rs2277604 CCDC33 Nonsynonymous SNV R30L 0.077 0.07 0.034 37 90 27 0.095 10 6 1 0 1 23 20017 chr17 33805150 33805150 T C rs2304968 SLFN12L Nonsynonymous SNV Y383C 0.749 0.768 0.772 300 879 295 0.769 227 321 114 88 113 1.516 20018 chr4 187179210 187179210 T C rs925453 KLKB1 Nonsynonymous SNV W503R 0.681 0.599 0.656 270 799 230 0.692 193 268 71 64 93 0.107 20019 chr15 64385935 64385935 C T rs34730124 CIAO2A Synonymous SNV T11T 0.006 0.013 0.007 1 7 5 0.003 2 0 0 0 0 21.2 20020 chr17 33806863 33806863 G A rs12451746 SLFN12L Synonymous SNV H122H 0.459 0.427 0.476 161 539 164 0.413 140 128 37 41 34 0.052 20021 chr4 187201211 187201211 A G rs5974 F11 Synonymous SNV T267T 0.177 0.221 0.167 62 208 85 0.159 49 17 10 4 2 Benign 0.599 20022 chr17 33875262 33875262 T A rs8073060 SLFN14 Nonsynonymous SNV Y912F 0.415 0.448 0.381 183 487 172 0.469 112 112 38 19 39 0.02 20023 chr15 84581904 84581904 T C rs4842923 ADAMTSL3 Synonymous SNV R587R 0.554 0.581 0.592 198 650 223 0.508 174 194 61 54 57 0.03 20024 chr15 63970338 63970338 C T rs112791137 HERC1 Nonsynonymous SNV R2259H 0.012 0.003 0 1 14 1 0.003 0 0 0 0 0 Likely benign 23.6 20025 chr4 187205301 187205301 T C rs5970 F11 Synonymous SNV G397G 0.184 0.234 0.177 67 216 90 0.172 52 17 12 5 3 Benign 0.026 20026 chr15 84582124 84582124 G T rs4842838 ADAMTSL3 Nonsynonymous SNV V661L 0.554 0.581 0.592 197 650 223 0.505 174 194 61 54 57 12.87 20027 chr17 33881631 33881631 T C rs321612 SLFN14 Nonsynonymous SNV K385E 0.545 0.531 0.602 200 640 204 0.513 177 181 52 48 57 4.17 20028 chr4 187516880 187516880 A G rs1298865 FAT1 Synonymous SNV S4367S 0.396 0.398 0.367 137 465 153 0.351 108 96 32 18 22 9.49 20029 chr15 57925836 57925836 C T rs16977629 GCOM1, MYZAP Nonsynonymous SNV A277V 0.076 0.065 0.065 14 89 25 0.036 19 4 1 1 0 23.7 20030 chr15 70368486 70368486 C T rs530193783 TLE3 Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 20031 chr15 63982838 63982838 G A rs35098067 HERC1 Synonymous SNV L1947L 0.013 0 0.014 3 15 0 0.008 4 0 0 0 0 12.6 20032 chr15 75012987 75012987 G T rs1799814 CYP1A1 Nonsynonymous SNV T432N 0.084 0.073 0.034 40 99 28 0.103 10 4 1 1 4 11.46 20033 chr17 33881718 33881718 G A rs321613 SLFN14 Nonsynonymous SNV P356S 0.542 0.526 0.599 200 636 202 0.513 176 181 52 48 57 6.633 20034 chr4 187519206 187519206 C G rs1280097 FAT1 Nonsynonymous SNV K4059N 0.986 0.987 0.993 383 1157 379 0.982 292 570 187 145 188 4.672 20035 chr17 3397702 3397702 C T rs12948217 ASPA Synonymous SNV Y231Y 0.288 0.279 0.265 89 338 107 0.228 78 52 10 7 11 Benign/Likely benign 8.153 20036 chr4 121719544 121719544 A T rs140634372 PRDM5 Nonsynonymous SNV S325T 0.021 0.021 0.031 16 25 8 0.041 9 0 0 0 1 Likely benign 13.06 20037 chr4 187525020 187525020 A C rs2637777 FAT1 Nonsynonymous SNV S3554A 0.396 0.401 0.364 137 465 154 0.351 107 95 33 18 22 0.515 20038 chr17 34072555 34072555 G A rs3744374 GAS2L2 Nonsynonymous SNV A654V 0.216 0.203 0.218 80 254 78 0.205 64 20 7 6 10 4.843 20039 chr15 84651185 84651185 C A rs8031704 ADAMTSL3 Synonymous SNV P935P 0.417 0.409 0.432 155 490 157 0.397 127 112 35 27 37 21.7 20040 chr15 75091247 75091247 C T rs11553760 CSK Synonymous SNV G70G 0.037 0.029 0.034 7 44 11 0.018 10 0 0 0 0 17.45 20041 chr17 34077232 34077232 G A rs11654604 GAS2L2 Nonsynonymous SNV A164V 0.115 0.164 0.153 58 135 63 0.149 45 7 4 4 3 24.3 20042 chr4 187534363 187534363 G A rs2249916 FAT1 Synonymous SNV N3121N 0.608 0.602 0.592 236 714 231 0.605 174 218 66 55 71 5.011 20043 chr15 84706461 84706461 C T rs950169 ADAMTSL3 Nonsynonymous SNV T1660I 0.378 0.385 0.354 131 444 148 0.336 104 87 34 19 22 20.8 20044 chr4 187534375 187534375 A G rs2249917 FAT1 Synonymous SNV D3117D 0.449 0.422 0.493 181 527 162 0.464 145 119 29 41 41 0.313 20045 chr17 34182341 34182341 G A rs2306630 HEATR9 Nonsynonymous SNV S440F 0.11 0.156 0.153 50 129 60 0.128 45 5 7 4 4 0.007 20046 chr4 187538330 187538330 G A rs1280099 FAT1 Synonymous SNV A2968A 0.44 0.417 0.476 178 517 160 0.456 140 116 28 41 40 18.7 20047 chr15 65369367 65369367 C T rs550537101 KBTBD13 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.769 20048 chr15 72189952 72189952 T A rs80283650 MYO9A Nonsynonymous SNV N1631I 0.005 0 0.003 0 6 0 0 1 0 0 0 0 9.147 20049 chr17 3422032 3422032 G A rs7216486 TRPV3 Synonymous SNV D641D 0.589 0.615 0.656 248 692 236 0.636 193 207 71 65 78 Benign 8.726 20050 chr4 187538942 187538942 T G rs1280098 FAT1 Nonsynonymous SNV Q2933P 0.573 0.583 0.558 221 673 224 0.567 164 192 61 54 62 0.009 20051 chr17 3422077 3422077 G A rs12946883 TRPV3 Synonymous SNV S626S 0.283 0.307 0.327 102 332 118 0.262 96 46 17 16 15 Benign 7.261 20052 chr4 122682779 122682779 T A rs143352342 TMEM155 Nonsynonymous SNV R16S 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 22.4 20053 chr17 34235470 34235470 G A rs9899866 LRRC37A8P 0 0 0.143 0 0 0 0 42 0 0 3 0 6.019 20054 chr17 34235609 34235609 T G rs9908525 LRRC37A8P 0 0 0.143 0 0 0 0 42 0 0 3 0 4.213 20055 chr4 187557893 187557893 T C rs328418 FAT1 Nonsynonymous SNV H1273R 0.574 0.581 0.582 228 674 223 0.585 171 199 61 53 67 0.014 20056 chr17 34252537 34252537 A C rs2251660 RDM1 Nonsynonymous SNV C104W 0.137 0.185 0.18 65 161 71 0.167 53 7 7 5 5 15.21 20057 chr15 64967892 64967894 AAG - rs150235359 ZNF609 K948del 0.012 0.003 0.003 2 14 1 0.005 1 0 0 0 0 20058 chr17 34261831 34261831 A G rs9754 LYZL6 Nonsynonymous SNV F139S 0.14 0.185 0.177 68 164 71 0.174 52 7 7 5 7 6.144 20059 chr15 85189464 85189464 T G rs2271431 WDR73 Synonymous SNV R156R 0.349 0.341 0.35 129 410 131 0.331 103 70 23 19 23 0.47 20060 chr4 187627792 187627792 T C rs11939575 FAT1 Nonsynonymous SNV R1064G 0.776 0.792 0.796 312 911 304 0.8 234 346 118 89 126 10.26 20061 chr15 85200520 85200520 G T rs1051168 NMB Nonsynonymous SNV P73T 0.347 0.339 0.344 126 407 130 0.323 101 68 22 18 21 16.05 20062 chr15 76994111 76994111 T C rs117552750 SCAPER Synonymous SNV S586S 0.055 0.065 0.085 15 64 25 0.038 25 2 1 0 0 7.154 20063 chr17 34264859 34264859 A G rs2280783 LYZL6 Synonymous SNV D67D 0.146 0.174 0.126 66 171 67 0.169 37 17 3 2 8 0.052 20064 chr4 187628398 187628398 C G rs1877731 FAT1 Nonsynonymous SNV V862L 0.777 0.797 0.789 314 912 306 0.805 232 346 119 88 128 0.004 20065 chr17 34264862 34264862 T C rs1052266 LYZL6 Synonymous SNV A66A 0.088 0.107 0.112 46 103 41 0.118 33 2 6 2 4 0.079 20066 chr17 34311387 34311387 T C rs16971802 CCL14 Nonsynonymous SNV K61E 0.085 0.063 0.082 39 100 24 0.1 24 0 2 1 3 25.3 20067 chr4 187628819 187628819 C T rs140935307 FAT1 Synonymous SNV P721P 0.009 0.005 0.007 2 10 2 0.005 2 1 0 0 0 Benign 12 20068 chr4 123145751 123145751 T A rs7658836 KIAA1109 Synonymous SNV P904P 0.392 0.378 0.371 162 460 145 0.415 109 97 30 18 32 10.54 20069 chr4 187629140 187629140 G C rs367863 FAT1 Nonsynonymous SNV F614L 0.775 0.794 0.789 312 910 305 0.8 232 345 119 88 126 0.071 20070 chr17 34328461 34328461 A G rs854625 CCL15 Nonsynonymous SNV I24T 0.972 0.969 0.973 377 1141 372 0.967 286 554 180 140 182 1.316 20071 chr15 85383145 85383145 C G rs3803403 ALPK3 Nonsynonymous SNV T212S 0.32 0.326 0.323 116 376 125 0.297 95 60 21 19 17 Benign 0.71 20072 chr17 34328542 34328542 G A rs2293788 CCL15-CCL14 0.097 0.078 0.116 45 114 30 0.115 34 4 2 1 4 6.86 20073 chr4 187629497 187629497 G A rs458021 FAT1 Synonymous SNV N495N 0.596 0.607 0.616 245 700 233 0.628 181 200 70 52 77 0.091 20074 chr17 34340284 34340284 C T rs1003645 CCL23 Nonsynonymous SNV V123M 0.796 0.813 0.724 309 934 312 0.792 213 370 126 77 124 0.114 20075 chr15 65369947 65369947 G A rs146917406 KBTBD13 Nonsynonymous SNV G265D 0.005 0 0 4 6 0 0.01 0 0 0 0 0 Benign 24.7 20076 chr4 123192383 123192383 T C rs45574236 KIAA1109 Synonymous SNV D2568D 0.392 0.378 0.371 162 460 145 0.415 109 97 30 18 32 1.086 20077 chr4 187629538 187629538 C T rs3733413 FAT1 Nonsynonymous SNV V482I 0.542 0.56 0.558 225 636 215 0.577 164 167 60 40 65 8.014 20078 chr15 85383640 85383640 G A rs3803405 ALPK3 Nonsynonymous SNV G377E 0.317 0.326 0.327 116 372 125 0.297 96 60 21 19 17 Benign 7.141 20079 chr17 3436080 3436080 C T rs395357 TRPV3 Synonymous SNV T312T 0.503 0.492 0.493 205 590 189 0.526 145 152 45 29 55 Benign 9.349 20080 chr15 73045089 73045089 A C rs756843148 ADPGK Nonsynonymous SNV L224V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 20081 chr4 123229132 123229132 C T rs7688384 KIAA1109 Synonymous SNV A3290A 0.407 0.396 0.381 168 478 152 0.431 112 102 31 18 34 19.31 20082 chr15 55912875 55912875 T A rs1438914 PRTG Nonsynonymous SNV I1062L 0.078 0.102 0.071 21 91 39 0.054 21 2 1 2 1 13.92 20083 chr4 187629770 187629770 A C rs3733414 FAT1 Nonsynonymous SNV S404R 0.595 0.609 0.609 245 698 234 0.628 179 199 71 51 78 7.479 20084 chr17 3445901 3445901 T G rs11078458 TRPV3 Synonymous SNV I186I 0.572 0.573 0.554 227 671 220 0.582 163 196 59 47 63 Benign 1.094 20085 chr15 73052840 73052840 T C rs8024644 ADPGK Nonsynonymous SNV K62R 0.085 0.063 0.119 36 100 24 0.092 35 7 0 3 2 22 20086 chr17 3446885 3446885 T C rs322937 TRPV3 Nonsynonymous SNV R117G 0.432 0.445 0.435 160 507 171 0.41 128 113 34 29 25 Benign 9.848 20087 chr15 76496232 76496232 G A rs937732 TMEM266 Nonsynonymous SNV R391H 0.245 0.234 0.279 101 288 90 0.259 82 42 9 7 13 16.66 20088 chr4 189012728 189012728 G C rs2279550 TRIML2 Synonymous SNV G396G 0.517 0.487 0.486 194 607 187 0.497 143 149 44 34 52 2.66 20089 chr15 55965666 55965666 A G rs75403514 PRTG Synonymous SNV S585S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 2.167 20090 chr15 73052845 73052845 A G rs8023358 ADPGK Synonymous SNV G60G 0.084 0.063 0.116 35 99 24 0.09 34 7 0 2 2 12.43 20091 chr4 189061036 189061036 C T rs76826594 TRIML1 Synonymous SNV D108D 0.266 0.279 0.252 107 312 107 0.274 74 40 14 13 14 10.66 20092 chr17 3447914 3447914 C T rs1039519 TRPV3 Synonymous SNV Q90Q 0.569 0.56 0.571 227 668 215 0.582 168 192 59 50 62 Benign 12.46 20093 chr15 56032872 56032872 G A rs77118243 PRTG Synonymous SNV C35C 0.052 0.052 0.031 11 61 20 0.028 9 3 0 0 0 3.208 20094 chr15 76496340 76496340 C T rs937733 TMEM266 Nonsynonymous SNV P427L 0.245 0.234 0.279 101 288 90 0.259 82 42 9 7 13 6.726 20095 chr4 189061106 189061106 G A rs13131525 TRIML1 Nonsynonymous SNV E132K 0.392 0.354 0.374 132 460 136 0.338 110 86 28 18 22 23 20096 chr15 78393352 78393352 C T rs181099810 SH2D7 Nonsynonymous SNV R253W 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 24.9 20097 chr17 3458072 3458072 T C rs322965 TRPV3 Nonsynonymous SNV I25V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.001 20098 chr15 85403105 85403105 C A rs34775428 ALPK3 Nonsynonymous SNV A1557D 0.007 0.008 0.007 6 8 3 0.015 2 0 0 0 0 Benign 22.9 20099 chr17 3475490 3475490 C T rs877610 TRPV1 Synonymous SNV K719K 0.033 0.047 0.037 6 39 18 0.015 11 0 0 1 0 16.16 20100 chr5 163205 163205 G C rs3810870 PLEKHG4B Synonymous SNV A1006A 0.664 0.578 0.697 258 779 222 0.662 205 264 61 69 85 5.578 20101 chr15 78398146 78398146 G A rs10456 CIB2 Synonymous SNV D110D 0.286 0.279 0.245 112 336 107 0.287 72 53 14 10 12 Benign 6.777 20102 chr15 85405995 85405995 T C rs187316 ALPK3 Nonsynonymous SNV L1420P 0.245 0.258 0.265 109 288 99 0.279 78 37 13 8 15 Benign 24.8 20103 chr17 3476990 3476990 G A rs17706245 TRPV1 Synonymous SNV I680I 0.034 0.039 0.037 7 40 15 0.018 11 0 0 1 0 10.69 20104 chr5 163260 163260 A C rs29674 PLEKHG4B Nonsynonymous SNV T1025P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.01 20105 chr15 78398161 78398161 C T rs117153558 CIB2 Synonymous SNV E105E 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 Benign/Likely benign 15.76 20106 chr17 3480447 3480447 T C rs8065080 TRPV1 Nonsynonymous SNV I585V 0.429 0.424 0.429 164 504 163 0.421 126 108 40 25 34 0.001 20107 chr15 78458638 78458638 C T rs2304826 IDH3A Synonymous SNV D337D 0.037 0.06 0.027 14 43 23 0.036 8 1 2 0 0 16.76 20108 chr5 163266 163266 C G rs3810867 PLEKHG4B Nonsynonymous SNV R1027G 0.401 0.406 0.432 154 471 156 0.395 127 103 33 32 31 0.171 20109 chr17 3480910 3480910 A G rs34378673 TRPV1 Synonymous SNV Y565Y 0.035 0.049 0.037 7 41 19 0.018 11 0 0 1 0 0.006 20110 chr15 78466006 78466006 G A rs11072735 ACSBG1 Nonsynonymous SNV A669V 0.037 0.06 0.027 14 44 23 0.036 8 1 2 0 0 7.039 20111 chr17 34854280 34854280 G A rs2306590 MYO19 Nonsynonymous SNV L663F 0.428 0.435 0.435 162 503 167 0.415 128 100 37 27 34 8.994 20112 chr5 174106 174106 G A rs4956987 PLEKHG4B Nonsynonymous SNV R1432Q 0.455 0.448 0.476 172 534 172 0.441 140 109 36 37 32 22.9 20113 chr15 74328206 74328206 G C rs743582 PML Nonsynonymous SNV A754P 0.139 0.13 0.16 55 163 50 0.141 47 12 3 7 4 4.327 20114 chr17 3486702 3486702 G A rs224534 TRPV1 Nonsynonymous SNV T469I 0.376 0.354 0.337 140 441 136 0.359 99 74 22 20 21 13.33 20115 chr15 66625161 66625161 A G rs11071885 DIS3L Synonymous SNV P797P 0.097 0.141 0.082 34 114 54 0.087 24 4 4 1 3 7.871 20116 chr5 181660 181660 T G rs7717970 PLEKHG4B Synonymous SNV G1478G 0.541 0.531 0.578 203 635 204 0.521 170 155 52 54 48 3.491 20117 chr17 34871813 34871813 T C rs752493 MYO19 Synonymous SNV L145L 0.026 0.026 0.054 19 30 10 0.049 16 0 0 0 3 5.64 20118 chr5 181730 181730 C G rs12519352 PLEKHG4B Nonsynonymous SNV R1502G 0.455 0.443 0.483 173 534 170 0.444 142 110 34 36 32 16.18 20119 chr15 56387142 56387142 G A rs34361729 RFX7 Synonymous SNV H831H 0.15 0.161 0.163 73 176 62 0.187 48 9 4 5 7 0.026 20120 chr17 3493200 3493200 C G rs222747 TRPV1 Nonsynonymous SNV M315I 0.665 0.732 0.755 275 781 281 0.705 222 249 101 84 93 5.949 20121 chr15 78635888 78635888 T G rs900962679 CRABP1 Synonymous SNV T99T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 10.06 20122 chr15 78337303 78337303 C T rs61732053 TBC1D2B Nonsynonymous SNV A208T 0.058 0.052 0.041 21 68 20 0.054 12 6 1 0 1 18.69 20123 chr5 181762 181762 A G rs11133847 PLEKHG4B Synonymous SNV R1512R 0.543 0.534 0.585 204 638 205 0.523 172 157 52 55 49 0.768 20124 chr15 63351873 63351873 T C rs11558747 TPM1 Synonymous SNV Y126Y 0.097 0.104 0.068 53 114 40 0.136 20 5 1 1 3 Benign/Likely benign 2.078 20125 chr17 34942595 34942595 G A rs1106908 GGNBP2 Synonymous SNV K536K 0.458 0.461 0.49 181 538 177 0.464 144 111 37 31 42 13.64 20126 chr5 311478 311478 T C rs2244029 PDCD6 Synonymous SNV I78I 0.631 0.63 0.639 239 741 242 0.613 188 230 79 64 70 6.254 20127 chr17 3514028 3514028 G C rs224496 SHPK Nonsynonymous SNV D421E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.013 20128 chr4 126411594 126411594 G A rs62312781 FAT4 Synonymous SNV E4540E 0.188 0.185 0.228 61 221 71 0.156 67 29 7 10 7 Benign 7.631 20129 chr15 66832466 66832466 A G rs75532475 ZWILCH Nonsynonymous SNV I421M 0.1 0.138 0.085 34 117 53 0.087 25 4 4 1 3 22.6 20130 chr5 422955 422955 C G rs2292596 AHRR Nonsynonymous SNV P189A 0.364 0.37 0.429 169 427 142 0.433 126 84 28 29 36 4.639 20131 chr15 86623248 86623248 G A rs4887258 AGBL1 Synonymous SNV T15T 0.944 0.935 0 370 1108 359 0.949 0 523 167 0 175 10.44 20132 chr17 35346641 35346641 T C rs1045056 AATF Synonymous SNV S415S 0.394 0.391 0.357 161 463 150 0.413 105 89 26 16 32 7.134 20133 chr17 35478362 35478362 T C rs1470452 ACACA Synonymous SNV T1968T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.338 20134 chr5 453567 453567 G A rs2672722 EXOC3 Synonymous SNV E149E 0.526 0.526 0.537 224 617 202 0.574 158 158 47 43 64 9.203 20135 chr17 3561396 3561396 C T rs161400 CTNS Nonsynonymous SNV T260I 0.931 0.935 0.85 357 1093 359 0.915 250 510 169 117 163 Benign 11.82 20136 chr15 78825917 78825917 A G rs3885951 HYKK Nonsynonymous SNV K343E 0.124 0.13 0.15 54 146 50 0.138 44 8 2 5 4 18.98 20137 chr5 475104 475104 A G rs2247114 SLC9A3 Nonsynonymous SNV C790R 0.787 0.794 0.782 323 924 305 0.828 230 364 119 94 133 4.887 20138 chr15 86807542 86807542 C T rs10520617 AGBL1 Synonymous SNV A380A 0.198 0.18 0.201 73 233 69 0.187 59 28 8 4 8 7.84 20139 chr17 3563963 3563963 C G rs2873624 CTNS Nonsynonymous SNV P380A 0.256 0.201 0.218 93 300 77 0.238 64 42 6 10 7 Benign 0.001 20140 chr15 86807843 86807843 T C rs11857527 AGBL1 Nonsynonymous SNV S481P 0.2 0.18 0.207 73 235 69 0.187 61 28 8 4 8 2.144 20141 chr5 475346 475346 A T rs2247107 SLC9A3-AS1 0.368 0.365 0.259 169 432 140 0.433 76 90 30 24 36 5.249 20142 chr5 476530 476530 C G rs2244240 SLC9A3-AS1 0.79 0.794 0.806 323 927 305 0.828 237 365 119 96 132 5.563 20143 chr17 3568012 3568012 A G rs8278 TAX1BP3 Synonymous SNV D40D 0.882 0.872 0.878 345 1035 335 0.885 258 454 148 114 153 6.582 20144 chr5 479905 479905 A C rs890986 SLC9A3-AS1 0.83 0.802 0.854 335 975 308 0.859 251 414 125 107 146 0.088 20145 chr15 86807884 86807884 A C rs11856833 AGBL1 Synonymous SNV V494V 0.202 0.188 0.207 72 237 72 0.185 61 29 8 4 8 0.024 20146 chr17 35696804 35696804 G A rs58654829 ACACA Synonymous SNV F15F 0.868 0.883 0.575 332 1019 339 0.851 169 444 151 75 141 12.95 20147 chr5 491936 491936 G A rs137949901 SLC9A3 Synonymous SNV N154N 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign 6.831 20148 chr17 35771468 35771468 C T rs7211875 TADA2A Nonsynonymous SNV P6S 0.863 0.849 0.85 324 1013 326 0.831 250 432 138 106 136 14.13 20149 chr15 78885579 78885579 G A rs751038368 CHRNA5 Nonsynonymous SNV G464E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 27.3 20150 chr5 639231 639231 C A rs12522955 CEP72 Nonsynonymous SNV P412T 0.183 0.167 0.126 67 215 64 0.172 37 15 8 0 5 17.31 20151 chr17 35896123 35896123 T C rs1045000 SYNRG Synonymous SNV V1002V 0.243 0.229 0.252 96 285 88 0.246 74 30 10 4 12 7.077 20152 chr15 86940673 86940673 C T rs1367647 AGBL1 Synonymous SNV T817T 0.083 0.073 0.136 31 98 28 0.079 40 5 1 1 2 13.82 20153 chr17 3594277 3594277 G - rs3215407 P2RX5 N112Tfs*36 0.666 0.625 0.616 253 782 240 0.649 181 251 75 54 77 20154 chr15 75498510 75498510 T C rs149365490 C15orf39 Nonsynonymous SNV C41R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 20155 chr5 640705 640705 A G rs868649 CEP72 Nonsynonymous SNV T509A 0.213 0.214 0.252 90 250 82 0.231 74 28 7 11 13 0.005 20156 chr17 35956391 35956391 G C rs12944821 SYNRG Nonsynonymous SNV A40G 0.187 0.169 0.173 74 219 65 0.19 51 18 5 2 7 13.43 20157 chr15 58302887 58302887 T C rs16939660 ALDH1A2 Synonymous SNV A55A 0.019 0.008 0.017 6 22 3 0.015 5 0 0 0 0 Benign 10.03 20158 chr5 665280 665280 T C rs1697963 TPPP Synonymous SNV S199S 0.64 0.638 0.68 243 751 245 0.623 200 240 75 67 75 0.003 20159 chr17 35984410 35984410 T C rs7216445 DDX52 Nonsynonymous SNV M403V 0.779 0.74 0.701 295 914 284 0.756 206 363 107 74 109 10.59 20160 chr5 665295 665295 A G rs61731455 TPPP Synonymous SNV D194D 0.183 0.159 0.126 66 215 61 0.169 37 15 7 0 5 12.66 20161 chr5 678062 678062 A G rs450628 TPPP Synonymous SNV A38A 0.664 0.654 0.65 262 779 251 0.672 191 253 77 61 93 0.177 20162 chr17 35988672 35988672 C T rs7224513 DDX52 Synonymous SNV R264R 0.755 0.703 0.697 290 886 270 0.744 205 343 95 71 106 13.63 20163 chr15 66793613 66793613 T G rs12905087 SNORD18C 0.106 0.102 0.109 43 124 39 0.11 32 5 3 3 0 10.77 20164 chr5 1057615 1057615 A G rs2241606 SLC12A7 Synonymous SNV S999S 0.616 0.641 0.612 243 723 246 0.623 180 222 77 53 70 0.052 20165 chr17 3627473 3627473 C T rs9907144 HASPIN Nonsynonymous SNV R82C 0.577 0.628 0.619 223 677 241 0.572 182 183 69 59 64 24.1 20166 chr15 66795585 66795585 T G rs36076768 SNORD18A 0.106 0.102 0.109 43 125 39 0.11 32 5 3 3 0 14.54 20167 chr15 89169858 89169858 A G rs8027765 AEN Nonsynonymous SNV N140D 0.907 0.911 0.912 370 1065 350 0.949 268 483 159 125 175 4.512 20168 chr5 1065399 1065399 C T rs737154 SLC12A7 Synonymous SNV V812V 0.577 0.526 0.588 204 677 202 0.523 173 192 52 47 48 8.276 20169 chr17 3627840 3627840 G A rs220462 HASPIN Nonsynonymous SNV G204D 0.342 0.336 0.316 136 402 129 0.349 93 67 17 17 23 10.15 20170 chr5 1081767 1081767 C T rs4526148 SLC12A7 Nonsynonymous SNV A408T 0.584 0.497 0.565 197 686 191 0.505 166 192 53 45 46 0.724 20171 chr15 89172558 89172558 G C rs3743475 AEN Synonymous SNV T214T 0.9 0.898 0.898 364 1057 345 0.933 264 474 154 121 169 12.75 20172 chr17 3628212 3628212 T C rs220461 HASPIN Nonsynonymous SNV I328T 0.336 0.336 0.316 134 394 129 0.344 93 64 17 17 23 0.001 20173 chr4 129913345 129913345 G A rs13151322 SCLT1 Synonymous SNV I221I 0.138 0.182 0.18 66 162 70 0.169 53 17 12 7 5 9.464 20174 chr5 1216775 1216775 A G rs4975629 SLC6A19 Synonymous SNV T330T 0.952 0.958 0.956 375 1118 368 0.962 281 532 176 134 180 Likely benign 0.003 20175 chr15 89195245 89195245 C T rs59188950 ISG20 Nonsynonymous SNV H34Y 0.152 0.18 0.204 60 179 69 0.154 60 11 5 2 3 11.16 20176 chr5 1225613 1225613 G A rs7704058 SLC6A18 Synonymous SNV P7P 0.732 0.732 0.765 295 859 281 0.756 225 311 99 92 116 7.073 20177 chr17 3628362 3628362 T C rs3809806 HASPIN Nonsynonymous SNV V378A 0.576 0.635 0.619 223 676 244 0.572 182 182 72 59 64 0.008 20178 chr4 130023884 130023884 G T rs35199409 C4orf33 Nonsynonymous SNV R40M 0.044 0.052 0.071 19 52 20 0.049 21 1 1 2 0 22.7 20179 chr5 1225626 1225626 T A rs7728667 SLC6A18 Nonsynonymous SNV C12S 0.732 0.732 0.772 295 859 281 0.756 227 311 99 92 116 0.001 20180 chr17 3632836 3632836 G A rs1716 ITGAE Nonsynonymous SNV R950W 0.365 0.354 0.327 141 428 136 0.362 96 77 21 17 26 25 20181 chr4 130030644 130030644 C T rs2271570 C4orf33 Nonsynonymous SNV S104L 0.212 0.24 0.262 86 249 92 0.221 77 27 14 10 7 22.5 20182 chr15 75643714 75643714 T C rs11634109 NEIL1 Nonsynonymous SNV S58P 0.14 0.135 0.119 43 164 52 0.11 35 19 4 4 3 1.456 20183 chr5 1225687 1225687 C T rs7705355 SLC6A18 Nonsynonymous SNV T32I 0.951 0.958 0.942 376 1117 368 0.964 277 532 176 132 181 0.069 20184 chr17 36478450 36478450 G T rs34749623 MRPL45 Nonsynonymous SNV G248V 0.096 0.099 0.119 46 113 38 0.118 35 2 3 1 2 3.54 20185 chr15 69652451 69652451 G A rs73440972 PAQR5 Nonsynonymous SNV S11N 0.018 0.023 0.02 7 21 9 0.018 6 0 0 0 1 0.064 20186 chr5 1225688 1225688 T C rs7728814 SLC6A18 Synonymous SNV T32T 0.73 0.732 0.765 295 857 281 0.756 225 310 99 91 116 0.037 20187 chr17 36485753 36485753 G C rs35803744 GPR179 Synonymous SNV L1233L 0.194 0.172 0.197 81 228 66 0.208 58 21 5 4 8 Benign 2.834 20188 chr15 80884025 80884025 G A rs4072568 ARNT2 Nonsynonymous SNV G679S 0.166 0.141 0.16 67 195 54 0.172 47 16 8 5 6 15.95 20189 chr5 1225703 1225703 A G rs7724858 SLC6A18 Synonymous SNV G37G 0.951 0.958 0.946 376 1117 368 0.964 278 532 176 132 181 0.49 20190 chr17 36486004 36486004 T C rs55727040 GPR179 Nonsynonymous SNV K1150E 0.122 0.112 0.139 48 143 43 0.123 41 8 3 3 4 Benign 0.269 20191 chr15 69709748 69709748 C A rs3759826 KIF23 Synonymous SNV G36G 0.019 0.018 0.017 7 22 7 0.018 5 0 0 0 1 15.63 20192 chr4 138442801 138442801 C G rs763286665 PCDH18 Nonsynonymous SNV Q929H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 27 20193 chr5 1240757 1240757 C G rs7447815 SLC6A18 Stop gain Y319X 0.31 0.284 0.296 115 364 109 0.295 87 51 14 18 19 28.6 20194 chr17 36486802 36486802 G A rs72832277 GPR179 Nonsynonymous SNV R884W 0.111 0.104 0.122 46 130 40 0.118 36 7 3 1 3 Benign 20.6 20195 chr15 60646409 60646409 T C rs141297352 ANXA2 Nonsynonymous SNV R196G 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 16.5 20196 chr5 1244425 1244425 C T rs4073918 SLC6A18 Nonsynonymous SNV P478L 0.785 0.779 0.704 298 922 299 0.764 207 362 117 73 115 12.74 20197 chr15 76726465 76726465 G T rs1607017 SCAPER Nonsynonymous SNV P843T 0.302 0.279 0.306 106 355 107 0.272 90 51 14 11 12 6.649 20198 chr17 36493598 36493598 A G rs9894059 GPR179 Synonymous SNV V303V 0.165 0.143 0.184 61 194 55 0.156 54 18 3 4 6 Benign 4.462 20199 chr15 81294774 81294774 G C rs11541231 TLNRD1 Synonymous SNV S54S 0.02 0.01 0.027 7 23 4 0.018 8 0 0 0 0 7.676 20200 chr17 36508385 36508385 T C rs41377745 SOCS7 Synonymous SNV P150P 0.191 0.182 0.197 70 224 70 0.179 58 25 2 7 9 0.236 20201 chr15 77176158 77176158 T C rs3812908 SCAPER Star tloss M2del 0.269 0.255 0.228 95 316 98 0.244 67 41 13 11 10 11.99 20202 chr5 1467004 1467004 A G rs35452723 LPCAT1 Nonsynonymous SNV M427T 0.194 0.208 0.238 86 228 80 0.221 70 28 10 9 11 20.6 20203 chr4 139140494 139140494 G C rs6838248 SLC7A11 Synonymous SNV A224A 0.603 0.612 0.616 228 708 235 0.585 181 205 68 59 65 8.364 20204 chr17 3657109 3657109 C A rs2272605 ITGAE Nonsynonymous SNV A499S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 20205 chr15 77241542 77241542 T C rs15939 RCN2 Synonymous SNV Y311Y 0.105 0.122 0.092 26 123 47 0.067 27 7 3 1 0 0.006 20206 chr17 36666551 36666551 T C rs62074752 ARHGAP23 Synonymous SNV D1273D 0.738 0.75 0.755 295 866 288 0.756 222 318 113 85 109 3.144 20207 chr5 1878440 1878440 C T rs1689717 IRX4 Synonymous SNV A401A 0.118 0.13 0.105 43 138 50 0.11 31 10 3 1 1 11.07 20208 chr17 36704829 36704829 G A rs56321748 SRCIN1 Synonymous SNV D1078D 0.186 0.164 0.163 68 218 63 0.174 48 18 7 6 8 12.42 20209 chr5 1880891 1880891 C T rs2232376 IRX4 Nonsynonymous SNV A119T 0.261 0.26 0.228 103 306 100 0.264 67 38 14 5 13 11.56 20210 chr17 36861983 36861983 T C rs17855918 MLLT6 Nonsynonymous SNV V33A 0.995 0.984 0.963 385 1168 378 0.987 283 584 189 141 192 2.526 20211 chr5 3600136 3600136 G A rs61746094 IRX1 Synonymous SNV L358L 0.1 0.102 0.136 38 117 39 0.097 40 6 1 3 1 11.41 20212 chr17 36894839 36894839 G A rs1138349 PCGF2 Synonymous SNV D145D 0.365 0.388 0.432 147 429 149 0.377 127 81 32 26 31 6.791 20213 chr5 3600334 3600334 T C rs844154 IRX1 Synonymous SNV N424N 0.923 0.906 0.939 359 1084 348 0.921 276 501 157 130 165 0.119 20214 chr17 36997461 36997461 G A rs7210156 C17orf98 Nonsynonymous SNV P61L 0.044 0.047 0.054 21 52 18 0.054 16 1 0 0 0 23.2 20215 chr5 5140632 5140632 T C rs270208 ADAMTS16 Synonymous SNV L18L 0.322 0.349 0.112 162 378 134 0.415 33 111 39 12 46 1.998 20216 chr15 65715171 65715171 G A rs147704873 IGDCC4 Synonymous SNV R10R 0.078 0.086 0.031 34 92 33 0.087 9 18 8 2 6 11.95 20217 chr17 37101380 37101380 T C rs9906595 FBXO47 Nonsynonymous SNV Q209R 0.915 0.943 0.891 353 1074 362 0.905 262 489 170 116 159 10.88 20218 chr5 5146335 5146335 C G rs2086310 ADAMTS16 Nonsynonymous SNV P90A 0.878 0.865 0.878 338 1031 332 0.867 258 450 146 114 145 0.001 20219 chr17 37213307 37213307 C T rs4795337 RDM1P5 0 0 0.85 0 0 0 0 250 0 0 106 0 8.419 20220 chr5 5146377 5146377 T C rs1019747 ADAMTS16 Nonsynonymous SNV S104P 0.336 0.352 0.357 172 395 135 0.441 105 73 24 22 39 13.05 20221 chr4 141372656 141372656 G A rs62346874 MGAT4D Stop gain R342X 0.019 0.023 0.024 12 22 9 0.031 7 0 0 0 0 35 20222 chr17 37213317 37213317 C A rs4795338 RDM1P5 0 0 0.558 0 0 0 0 164 0 0 50 0 7.718 20223 chr15 78369815 78369815 G A rs9047 TBC1D2B Synonymous SNV F60F 0.154 0.167 0.184 70 181 64 0.179 54 13 6 2 5 11.1 20224 chr17 37228765 37228765 A G rs9907595 RDM1P5 0.876 0.878 0.85 322 1028 337 0.826 250 456 147 106 136 10.69 20225 chr15 78369959 78369959 G C rs113518553 TBC1D2B Synonymous SNV G12G 0.072 0.096 0.092 35 85 37 0.09 27 12 6 2 4 Likely benign 3.901 20226 chr17 37243927 37243927 A G rs12602945 PLXDC1 Synonymous SNV Y280Y 0.351 0.383 0.282 131 412 147 0.336 83 67 31 14 19 0.555 20227 chr5 5146395 5146395 A G rs1863968 ADAMTS16 Nonsynonymous SNV M110V 0.664 0.648 0.646 215 779 249 0.551 190 265 81 65 60 0.002 20228 chr17 37558523 37558523 - C rs147479461 FBXL20 Frameshift insertion A19Gfs*10 1 1 0.949 389 1174 384 0.997 279 587 192 138 194 20229 chr4 141598126 141598126 C T rs2303911 TBC1D9 Synonymous SNV Q327Q 0.135 0.122 0.065 61 159 47 0.156 19 9 1 0 3 10.74 20230 chr17 3775848 3775848 T C rs7214723 CAMKK1 Nonsynonymous SNV E375G 0.445 0.443 0.486 155 522 170 0.397 143 107 41 31 31 21.7 20231 chr5 5200281 5200281 C T rs6555335 ADAMTS16 Synonymous SNV C450C 0.745 0.742 0.745 270 875 285 0.692 219 316 105 80 93 13.25 20232 chr17 3775916 3775916 T C rs7214864 CAMKK1 Synonymous SNV P352P 0.751 0.753 0.738 290 882 289 0.744 217 326 107 76 106 7.108 20233 chr4 143043340 143043340 A G rs2270658 INPP4B Synonymous SNV V692V 0.123 0.133 0.139 55 144 51 0.141 41 12 3 2 3 9.69 20234 chr5 5460569 5460569 C T rs2578565 ICE1 Synonymous SNV Y374Y 0.68 0.674 0.663 279 798 259 0.715 195 275 86 77 100 1.49 20235 chr17 37814080 37814080 G A rs1877031 STARD3 Nonsynonymous SNV R117Q 0.702 0.703 0.684 261 824 270 0.669 201 296 92 69 89 23.6 20236 chr15 83215251 83215251 T C rs1267657 CPEB1 Synonymous SNV L430L 0.394 0.38 0.388 151 463 146 0.387 114 83 30 18 30 6.322 20237 chr5 5460619 5460619 G C rs2619844 ICE1 Nonsynonymous SNV C391S 0.694 0.695 0.735 284 815 267 0.728 216 285 92 83 102 0.002 20238 chr4 143235865 143235865 C G rs3756122 INPP4B Synonymous SNV G141G 0.078 0.052 0.071 30 91 20 0.077 21 3 1 1 3 12.42 20239 chr17 37822311 37822311 A C rs1053651 TCAP Synonymous SNV A151A 0.732 0.729 0.728 279 859 280 0.715 214 321 100 77 105 Benign 0.034 20240 chr15 78398230 78398230 C T rs34057735 CIB2 Synonymous SNV T82T 0.075 0.081 0.061 25 88 31 0.064 18 5 2 0 1 Benign 18.84 20241 chr15 89804043 89804043 C T rs17803620 FANCI Nonsynonymous SNV A86V 0.343 0.372 0.371 138 403 143 0.354 109 77 30 19 23 Benign 23.4 20242 chr5 5462148 5462148 G A rs2578500 ICE1 Nonsynonymous SNV V901I 0.692 0.695 0.741 284 812 267 0.728 218 284 92 83 102 0.002 20243 chr15 83297138 83297138 C T rs10400906 CPEB1 Nonsynonymous SNV D25N 0.399 0.396 0.384 155 468 152 0.397 113 84 31 17 32 5.574 20244 chr17 37830900 37830900 A G rs2941504 PGAP3 Synonymous SNV V104V 0.757 0.737 0.738 285 889 283 0.731 217 339 103 80 109 Benign 1.834 20245 chr17 37863250 37863250 C T rs377542789 ERBB2 Synonymous SNV T27T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.7 20246 chr15 83657865 83657865 G A rs150238339 C15orf40, RAMAC Nonsynonymous SNV R32H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.7 20247 chr15 89836228 89836228 G C rs2283432 FANCI Nonsynonymous SNV C742S 0.343 0.372 0.364 138 403 143 0.354 107 78 30 19 23 Benign 15.87 20248 chr17 37898543 37898543 T C rs2952142 GRB7 Nonsynonymous SNV C20R 0.999 1 0.99 388 1173 384 0.995 291 586 192 145 193 0.233 20249 chr5 6616946 6616946 G A rs527650370 NSUN2 Synonymous SNV R270R 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 9.423 20250 chr15 63414119 63414119 G A rs139879323 LACTB Nonsynonymous SNV G17S 0.049 0.036 0.051 13 58 14 0.033 15 2 1 1 0 11.27 20251 chr5 6633042 6633042 C T rs10062086 NSUN2 Synonymous SNV E17E 0.272 0.281 0.054 129 319 108 0.331 16 84 31 8 36 Benign 10.55 20252 chr17 38121993 38121993 G A rs3894194 GSDMA Nonsynonymous SNV R18Q 0.453 0.458 0.425 183 532 176 0.469 125 118 36 25 43 21.4 20253 chr4 146653620 146653620 G A rs10008599 C4orf51 Nonsynonymous SNV D173N 0.141 0.12 0.16 49 165 46 0.126 47 16 2 4 2 10.34 20254 chr15 66795727 66795727 G A rs11549586 RPL4 Synonymous SNV N48N 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 7.805 20255 chr15 78466781 78466781 G A rs17850483 ACSBG1 Synonymous SNV N592N 0.058 0.049 0.065 20 68 19 0.051 19 5 0 1 0 12.18 20256 chr5 6633779 6633779 C G rs248793 SRD5A1 Nonsynonymous SNV A39G 0.557 0.578 0.537 235 654 222 0.603 158 176 59 45 76 6.266 20257 chr15 89838318 89838318 A T rs35875311 FANCI Nonsynonymous SNV I877L 0.061 0.063 0.065 21 72 24 0.054 19 7 1 1 0 Benign 22.6 20258 chr17 38122680 38122680 G T rs7212938 GSDMA Nonsynonymous SNV V128L 0.535 0.518 0.551 205 628 199 0.526 162 164 50 43 54 1.984 20259 chr15 84255758 84255758 T C rs17158793 SH3GL3 Synonymous SNV A147A 0.06 0.065 0.044 11 71 25 0.028 13 0 0 0 0 10.11 20260 chr15 78471110 78471110 G A rs17850484 ACSBG1 Synonymous SNV G512G 0.077 0.081 0.099 28 90 31 0.072 29 5 0 3 0 12.17 20261 chr5 6651970 6651970 A G rs3822430 SRD5A1 Synonymous SNV P103P 0.414 0.401 0.415 179 486 154 0.459 122 87 33 25 41 9.86 20262 chr15 78471954 78471954 G A rs17479031 ACSBG1 Synonymous SNV Y470Y 0.077 0.081 0.099 28 90 31 0.072 29 5 0 3 0 7.776 20263 chr15 89858602 89858602 T C rs1138465 FANCI Synonymous SNV G1242G 0.368 0.404 0.405 148 432 155 0.379 119 87 34 21 28 Benign/Likely benign 0.047 20264 chr15 63433785 63433785 G A rs4775629 LACTB Synonymous SNV S475S 0.03 0.026 0.034 11 35 10 0.028 10 0 1 0 0 2.942 20265 chr17 38131187 38131187 C A rs56030650 GSDMA Nonsynonymous SNV T314N 0.349 0.385 0.35 138 410 148 0.354 103 77 25 16 25 21.4 20266 chr5 6652009 6652009 G A rs8192186 SRD5A1 Synonymous SNV A116A 0.414 0.401 0.418 179 486 154 0.459 123 87 33 25 41 3.596 20267 chr5 6656210 6656210 G A rs3736316 SRD5A1 Synonymous SNV T113T 0.411 0.409 0.415 180 483 157 0.462 122 87 35 25 41 9.311 20268 chr15 89862465 89862465 G A rs551708243 POLG Nonsynonymous SNV A1033V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.86 20269 chr17 38519291 38519291 C G rs502041 GJD3 Synonymous SNV P259P 0.648 0.651 0.68 259 761 250 0.664 200 310 111 85 103 12.42 20270 chr15 78567853 78567853 G T rs967821 DNAJA4 Synonymous SNV G220G 0.184 0.203 0.139 66 216 78 0.169 41 20 9 6 6 8.672 20271 chr15 63893810 63893810 C T rs372736597 FBXL22 Synonymous SNV A223A 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 16.45 20272 chr5 6714792 6714792 G C rs529094777 TENT4A Synonymous SNV A232A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 15.19 20273 chr17 38640744 38640744 C T rs2290207 TNS4 Nonsynonymous SNV S498N 0.281 0.266 0.296 103 330 102 0.264 87 56 14 12 15 0.041 20274 chr5 6748659 6748659 T C rs274681 TENT4A Synonymous SNV A514A 0.704 0.732 0.701 294 827 281 0.754 206 289 103 71 113 5.099 20275 chr15 78575774 78575774 T C WDR61 Synonymous SNV X213X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.53 20276 chr5 7743787 7743787 C T rs62342477 ADCY2 Synonymous SNV S626S 0.552 0.599 0.531 213 648 230 0.546 156 176 71 45 54 12.21 20277 chr17 38645125 38645125 A G rs3764424 TNS4 Nonsynonymous SNV L179P 0.281 0.273 0.299 104 330 105 0.267 88 54 14 13 16 9.087 20278 chr5 7802363 7802363 C T rs2290910 ADCY2 Synonymous SNV C887C 0.263 0.299 0.299 86 309 115 0.221 88 41 13 15 5 17.32 20279 chr15 74219582 74219582 G A rs3825942 LOXL1 Nonsynonymous SNV G153D 0.179 0.154 0.194 73 210 59 0.187 57 15 5 4 3 risk factor 23.2 20280 chr15 84581889 84581889 G A rs12439867 ADAMTSL3 Synonymous SNV P582P 0.163 0.188 0.173 51 191 72 0.131 51 16 8 5 4 8.984 20281 chr15 68119741 68119741 G A rs80000622 SKOR1 Synonymous SNV A525A 0.097 0.076 0.136 38 114 29 0.097 40 7 3 3 3 6.95 20282 chr5 7859571 7859571 T C FASTKD3 Nonsynonymous SNV T656A 0 0 0 0 0 0 0 0 0 0 0 0 0.148 20283 chr4 152201053 152201053 G A rs36097019 PRSS48 Nonsynonymous SNV C53Y 0.423 0.424 0.442 179 497 163 0.459 130 113 40 30 38 25.8 20284 chr17 38911212 38911212 G A rs12951078 KRT25 Synonymous SNV N104N 0.506 0.526 0.537 186 594 202 0.477 158 156 50 42 42 7.615 20285 chr15 68120014 68120014 C T rs62015251 SKOR1 Synonymous SNV Y616Y 0.098 0.076 0.139 38 115 29 0.097 41 7 3 3 3 0.579 20286 chr15 73044863 73044863 G A rs34149613 ADPGK Nonsynonymous SNV S299L 0.123 0.125 0.102 50 144 48 0.128 30 6 3 1 5 15.37 20287 chr5 9154659 9154659 G C rs1806151 SEMA5A Synonymous SNV G474G 0.572 0.576 0.514 229 672 221 0.587 151 198 66 43 70 8.966 20288 chr17 38911327 38911327 C G rs35076248 KRT25 Nonsynonymous SNV G66A 0.136 0.159 0.163 52 160 61 0.133 48 14 5 5 4 11.01 20289 chr4 152212486 152212486 C T rs13126069 PRSS48 Nonsynonymous SNV R290C 0.423 0.422 0.442 179 497 162 0.459 130 113 39 30 38 22.8 20290 chr5 10239278 10239278 C T rs2252505 ATPSCKMT Synonymous SNV P69P 0.578 0.544 0.578 253 678 209 0.649 170 194 53 54 80 12.46 20291 chr15 74325023 74325023 C T rs376333996 PML Synonymous SNV Y455Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.529 20292 chr17 38928014 38928014 A G rs9898164 KRT26 Nonsynonymous SNV W118R 0.137 0.154 0.167 53 161 59 0.136 49 14 5 6 4 26.4 20293 chr5 10254817 10254817 A G rs2578617 CCT5 Synonymous SNV G45G 0.819 0.797 0.769 322 961 306 0.826 226 392 123 89 132 Benign 3.849 20294 chr15 90174762 90174762 G A rs141683648 KIF7 Synonymous SNV D1025D 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 10.2 20295 chr5 10256161 10256161 T C rs1042392 CCT5 Synonymous SNV R87R 0.824 0.805 0.769 322 967 309 0.826 226 397 126 89 132 Benign 7.578 20296 chr17 38935812 38935812 A G rs981684 KRT27 Nonsynonymous SNV I305T 0.52 0.544 0.568 188 610 209 0.482 167 160 54 50 43 9.205 20297 chr5 10282396 10282396 A G rs10067744 CMBL Synonymous SNV I157I 0.698 0.677 0.653 269 819 260 0.69 192 291 89 65 90 0.604 20298 chr17 38938316 38938316 C T rs12453124 KRT27 Nonsynonymous SNV E144K 0.137 0.154 0.167 51 161 59 0.131 49 14 5 6 3 27.1 20299 chr5 10564846 10564846 C T rs814576 ANKRD33B Synonymous SNV L89L 0.997 0.984 0.959 383 1170 378 0.982 282 583 186 140 189 14.26 20300 chr15 74032778 74032778 G A rs144142309 INSYN1 Nonsynonymous SNV P121L 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 27.1 20301 chr5 10638180 10638180 T C rs11745612 ANKRD33B Synonymous SNV P179P 0.503 0.565 0.497 189 591 217 0.485 146 149 59 30 43 6.756 20302 chr17 38938557 38938557 G A rs67771170 KRT27 Synonymous SNV G63G 0.121 0.115 0.136 62 142 44 0.159 40 7 2 4 6 9.136 20303 chr5 10650090 10650090 C T rs112072949 ANKRD33B Synonymous SNV S450S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 20304 chr17 38938591 38938591 C G rs2469826 KRT27 Nonsynonymous SNV S52T 0.279 0.286 0.323 117 328 110 0.3 95 48 16 18 14 11.63 20305 chr15 68653946 68653946 C T rs148886354 ITGA11 Nonsynonymous SNV V152M 0.012 0.01 0.003 3 14 4 0.008 1 0 0 0 0 25.3 20306 chr5 10650150 10650150 A G rs56969869 ANKRD33B Synonymous SNV A470A 0.343 0.299 0.139 131 403 115 0.336 41 75 18 11 23 0.132 20307 chr17 38950272 38950272 T C rs2250671 KRT28 Synonymous SNV T335T 0.57 0.63 0.616 244 669 242 0.626 181 199 78 55 70 0.017 20308 chr15 74174064 74174064 G A rs117341216 TBC1D21 Nonsynonymous SNV R47Q 0.032 0.031 0.037 10 37 12 0.026 11 1 0 0 0 33 20309 chr5 10680997 10680997 G A rs5745297 DAP Nonsynonymous SNV S146F 0.085 0.065 0.092 26 100 25 0.067 27 6 1 2 0 6.437 20310 chr17 38955961 38955961 G A rs4624233 KRT28 Nonsynonymous SNV A62V 0.173 0.177 0.207 70 203 68 0.179 61 19 5 6 6 0.047 20311 chr4 154479430 154479430 T C rs6848033 TMEM131L Synonymous SNV R190R 0.422 0.43 0.367 151 496 165 0.387 108 98 32 18 28 7.376 20312 chr15 74327848 74327848 T C rs150761242 PML Synonymous SNV P634P 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 1.823 20313 chr17 38955991 38955991 C T rs7209228 KRT28 Nonsynonymous SNV G52D 0.204 0.195 0.228 79 239 75 0.203 67 24 6 8 6 23 20314 chr5 13701525 13701525 T C rs3734111 DNAH5 Synonymous SNV T4453T 0.511 0.526 0.524 204 600 202 0.523 154 138 54 43 49 Benign 0.391 20315 chr15 85198606 85198606 C T rs17598561 NMB Nonsynonymous SNV M120I 0.04 0.052 0.061 20 47 20 0.051 18 0 0 0 0 8.436 20316 chr5 13701536 13701536 T C rs3734110 DNAH5 Nonsynonymous SNV I4450V 0.514 0.531 0.531 205 604 204 0.526 156 140 55 44 49 Benign 14.2 20317 chr15 79224747 79224747 C T rs13345 CTSH Synonymous SNV A153A 0.232 0.201 0.214 93 272 77 0.238 63 35 7 2 11 12.63 20318 chr15 75113023 75113023 G A rs145422132 LMAN1L Synonymous SNV R274R 0.031 0.039 0.044 8 36 15 0.021 13 3 0 0 0 10.57 20319 chr15 64444902 64444902 G A rs143180219 SNX22 Synonymous SNV G75G 0 0.005 0 2 0 2 0.005 0 0 0 0 0 13.01 20320 chr17 38975103 38975103 - GCTGCCGCCGCCGTATCCGCCGCCGGAGCT rs776920005 KRT10 G565_H566insGYGGGSSSGG 0.074 0.078 0.133 23 87 30 0.059 39 6 2 5 3 20321 chr15 85327774 85327774 C T rs761491793 ZNF592 Nonsynonymous SNV T623M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 20322 chr17 38975328 38975328 G A rs17855579 KRT10 Nonsynonymous SNV H487Y 0.645 0.677 0.561 259 757 260 0.664 165 261 96 52 84 13.74 20323 chr5 13719022 13719022 T G rs30169 DNAH5 Synonymous SNV G4156G 0.434 0.479 0.429 163 509 184 0.418 126 102 45 29 34 Benign 8.669 20324 chr17 38978536 38978536 A C rs4261597 KRT10 Nonsynonymous SNV I101S 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 15.41 20325 chr5 13719089 13719089 G A rs30168 DNAH5 Nonsynonymous SNV A4134V 0.435 0.479 0.432 163 511 184 0.418 127 103 45 29 34 Benign 6.739 20326 chr15 79277298 79277298 T C rs3803544 LOC100129540 0.24 0.253 0.276 100 282 97 0.256 81 32 13 12 14 3.816 20327 chr17 38990834 38990834 G C rs2240078 TMEM99 0.961 0.969 0.939 370 1128 372 0.949 276 543 180 131 175 0.163 20328 chr15 79277391 79277391 T G rs117481060 RASGRF1 Synonymous SNV A356A 0.027 0.029 0.017 18 32 11 0.046 5 0 0 0 0 14.51 20329 chr17 38991003 38991003 T C rs10558 TMEM99 0.158 0.159 0.197 63 186 61 0.162 58 14 4 6 5 1.575 20330 chr4 154625682 154625682 C T rs5743700 TLR2 Synonymous SNV F541F 0.04 0.039 0.082 20 47 15 0.051 24 0 0 1 0 3.587 20331 chr5 13794057 13794057 C A rs148720124 DNAH5 Nonsynonymous SNV E2666D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 20332 chr15 79277511 79277511 A G rs2230518 RASGRF1 Synonymous SNV N316N 0.239 0.253 0.276 100 281 97 0.256 81 32 13 12 14 8.019 20333 chr15 85438311 85438311 - TTG rs151038463 SLC28A1 L140_K141insV 0.358 0.398 0.289 118 420 153 0.303 85 73 32 22 16 20334 chr15 90293794 90293794 G C rs2305440 MESP1 Nonsynonymous SNV F223L 0.307 0.284 0.272 117 361 109 0.3 80 69 25 15 18 9.099 20335 chr4 154625951 154625951 C A rs5743704 TLR2 Nonsynonymous SNV P631H 0.042 0.023 0.031 8 49 9 0.021 9 2 0 0 0 24.8 20336 chr17 38991032 38991032 T A rs6694 TMEM99 0.599 0.622 0.571 238 703 239 0.61 168 210 70 42 69 0.549 20337 chr17 38991052 38991052 T G rs1044806 TMEM99 0.222 0.216 0.235 87 261 83 0.223 69 27 8 8 7 15.2 20338 chr5 13811775 13811775 T C rs10078391 DNAH5 Nonsynonymous SNV Q2463R 0.141 0.13 0.173 73 165 50 0.187 51 8 3 4 7 Benign 22.4 20339 chr15 79284127 79284127 C A rs28603308 RASGRF1 Nonsynonymous SNV V245L 0.031 0.029 0.017 18 36 11 0.046 5 0 0 0 0 14.45 20340 chr15 90294306 90294306 C G rs6496598 MESP1 Nonsynonymous SNV A53P 0.233 0.193 0.238 78 273 74 0.2 70 57 21 20 17 0.049 20341 chr17 38991053 38991053 T A rs3169915 TMEM99 0.222 0.216 0.235 87 261 83 0.223 69 27 8 8 7 1.914 20342 chr15 79586693 79586695 GTG - rs536236949 ANKRD34C G357del 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 20343 chr5 13829799 13829799 G A rs1348689 DNAH5 Synonymous SNV A2088A 0.353 0.315 0.32 143 415 121 0.367 94 66 23 19 27 Benign 10.61 20344 chr17 39022440 39022440 T C rs147584242 KRT12 Nonsynonymous SNV N206S 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 23.8 20345 chr15 90320121 90320144 AGGGGCAGGGGCAAGGGCAGGGGC - rs200021459 MESP2 Q198_G205del 0.43 0.411 0.299 159 505 158 0.408 88 114 41 17 36 20346 chr4 154631563 154631563 T C rs1339 RNF175 Nonsynonymous SNV I315M 0.177 0.151 0.17 65 208 58 0.167 50 16 2 6 7 23.2 20347 chr5 13845045 13845045 G A rs10041113 DNAH5 Synonymous SNV A1724A 0.322 0.289 0.289 136 378 111 0.349 85 56 19 13 26 Benign 5.018 20348 chr15 65158047 65158047 G A rs77456635 PLEKHO2 Nonsynonymous SNV R428Q 0.03 0.039 0.034 17 35 15 0.044 10 0 1 1 0 20.5 20349 chr5 13900345 13900345 A G rs1445823 DNAH5 Synonymous SNV D743D 0.478 0.51 0.439 177 561 196 0.454 129 128 44 28 39 Benign 3.595 20350 chr17 39296254 39296254 C T rs72483263 KRTAP4-6 Synonymous SNV P162P 0.446 0.464 0.425 175 524 178 0.449 125 0 0 0 0 10.44 20351 chr4 154631587 154631587 C G rs1337 RNF175 Nonsynonymous SNV L307F 0.143 0.104 0.153 47 168 40 0.121 45 9 3 1 3 24.2 20352 chr17 39296361 39296361 A G rs146882220 KRTAP4-6 Nonsynonymous SNV S127P 0.43 0.451 0.364 171 505 173 0.438 107 0 0 0 0 5.466 20353 chr5 13902220 13902220 T C rs1530498 DNAH5 Nonsynonymous SNV T558A 0.412 0.461 0.333 151 484 177 0.387 98 99 39 20 30 Benign 16.76 20354 chr15 85525556 85525556 C G rs11540803 PDE8A Nonsynonymous SNV L55V 0.086 0.078 0.054 31 101 30 0.079 16 7 2 3 3 0.01 20355 chr15 70347520 70347520 G A rs762068389 TLE3 Synonymous SNV H412H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.78 20356 chr4 154644537 154644537 T C rs10517577 RNF175 Nonsynonymous SNV M159V 0.167 0.138 0.18 56 196 53 0.144 53 14 6 2 5 10.65 20357 chr17 39296412 39296412 T A rs200470462 KRTAP4-6 Nonsynonymous SNV S110C 0.317 0.331 0.201 137 372 127 0.351 59 0 0 0 0 0.379 20358 chr15 80137560 80137560 T C rs8923 MTHFS, ST20-MTHFS Nonsynonymous SNV T145A 0.064 0.063 0.054 29 75 24 0.074 16 3 0 0 0 0.001 20359 chr5 13913885 13913885 A G rs3213936 DNAH5 Synonymous SNV I501I 0.389 0.451 0.371 147 457 173 0.377 109 89 31 18 28 Benign 5.774 20360 chr5 13944512 13944512 A C rs339445 DNAH5 Nonsynonymous SNV H12Q 0.903 0.896 0.891 353 1060 344 0.905 262 476 154 117 159 Benign 8.459 20361 chr17 39305775 39305775 - GGCAGCAGCTGGGGC rs535144703 KRTAP4-5 C81_Q82insRPSCC 0.649 0.69 0.592 265 762 265 0.679 174 254 88 60 92 20362 chr17 39305956 39305956 G A rs1497383 KRTAP4-5 Nonsynonymous SNV R22C 0.543 0.609 0.561 225 638 234 0.577 165 176 73 45 64 14.19 20363 chr15 90344353 90344353 A T rs17240212 ANPEP Nonsynonymous SNV I603K 0.042 0.052 0.027 14 49 20 0.036 8 1 0 1 0 0.001 20364 chr5 14368975 14368975 C T rs13189406 TRIO Synonymous SNV N1011N 0.334 0.346 0.35 128 392 133 0.328 103 79 20 13 23 11.94 20365 chr15 75688688 75688688 T C rs61751126 SIN3A Synonymous SNV A668A 0.016 0.016 0.014 6 19 6 0.015 4 0 0 0 1 7.329 20366 chr17 39334133 39334133 T C rs389784 KRTAP4-2 Nonsynonymous SNV Y95C 0.918 0.948 0.918 361 1078 364 0.926 270 493 172 129 167 8.106 20367 chr5 14397238 14397238 T C rs30774 TRIO Synonymous SNV D1466D 0.359 0.385 0.381 130 422 148 0.333 112 87 27 18 25 0.043 20368 chr15 75913266 75913266 G A rs148827081 SNUPN Nonsynonymous SNV R43C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.6 20369 chr5 14420027 14420027 A C rs30612 TRIO Synonymous SNV T1700T 0.925 0.917 0.915 356 1086 352 0.913 269 505 163 122 162 0.009 20370 chr17 39340707 39340707 C T rs398825 KRTAP4-1 Nonsynonymous SNV A115T 0.918 0.948 0.942 361 1078 364 0.926 277 493 172 131 167 5.132 20371 chr5 14610309 14610309 C G rs16903574 OTULINL Nonsynonymous SNV F319L 0.035 0.036 0.041 9 41 14 0.023 12 2 0 0 0 24.2 20372 chr15 90623052 90623052 T C rs2970357 ZNF710 Synonymous SNV N662N 0.443 0.409 0.486 165 520 157 0.423 143 118 30 38 31 0.841 20373 chr15 86123170 86123170 G T rs745191 AKAP13 Nonsynonymous SNV G624V 0.394 0.362 0.354 148 462 139 0.379 104 91 17 17 31 21.2 20374 chr15 81558093 81558093 A G rs113332687 IL16 Nonsynonymous SNV N172S 0.013 0.029 0.01 5 15 11 0.013 3 1 0 0 0 0.004 20375 chr17 39340796 39340852 CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs71155126 KRTAP4-1 C83_R85del 0.917 0.948 0.939 361 1076 364 0.926 276 491 172 130 167 20376 chr15 90744960 90744960 G A rs11547964 SEMA4B Synonymous SNV L50L 0.124 0.104 0.078 37 146 40 0.095 23 23 4 5 2 13 20377 chr5 16478200 16478200 G A rs162848 RETREG1 Synonymous SNV D131D 0.718 0.706 0.67 281 843 271 0.721 197 307 102 68 101 Benign 7.363 20378 chr17 39340910 39340910 T C rs2320231 KRTAP4-1 Nonsynonymous SNV H66R 0.917 0.948 0.935 359 1076 364 0.921 275 491 172 130 165 0.023 20379 chr15 90764219 90764219 G A rs4932305 SEMA4B Stop gain W86X 0.132 0.109 0.133 43 155 42 0.11 39 8 2 3 0 4.378 20380 chr5 16769273 16769273 G A rs11750538 MYO10 Nonsynonymous SNV R324W 0.59 0.612 0.541 236 693 235 0.605 159 202 74 37 71 26.2 20381 chr17 39346518 39346518 T C rs238824 KRTAP9-1 Nonsynonymous SNV I127T 0.918 0.948 0.942 361 1078 364 0.926 277 493 172 131 167 0.001 20382 chr15 81592384 81592384 C T rs17875513 IL16 Nonsynonymous SNV S205L 0.01 0.023 0.014 4 12 9 0.01 4 0 0 1 0 0.058 20383 chr5 16794916 16794916 G A rs396514 MYO10 Synonymous SNV S102S 0.393 0.349 0.452 148 461 134 0.379 133 92 23 33 29 13.03 20384 chr15 90768320 90768320 C T rs11073918 SEMA4B Synonymous SNV L301L 0.175 0.143 0.187 51 205 55 0.131 55 16 5 4 2 10.04 20385 chr17 39346595 39346595 - GCTGTGGGTCCAGCTGCTGCCAGCCTA rs71155128 KRTAP9-1 P161_C162insSCGSSCCQP 0.918 0.948 0.942 361 1078 364 0.926 277 493 172 131 167 20386 chr17 39382942 39382942 C A rs11078986 KRTAP9-2 Synonymous SNV T12T 0.397 0.398 0.442 135 466 153 0.346 130 1 0 1 0 6.06 20387 chr5 19591174 19591174 A G rs17285716 CDH18 Synonymous SNV L331L 0.171 0.19 0.187 67 201 73 0.172 55 15 6 7 9 Uncertain significance 5.746 20388 chr15 90771644 90771644 C T rs184425597 SEMA4B Synonymous SNV C623C 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 8.664 20389 chr15 77025687 77025687 C T rs144694379 SCAPER Synonymous SNV Q389Q 0.031 0.029 0.031 19 36 11 0.049 9 0 0 0 0 13.94 20390 chr15 81593757 81593757 C T rs112910065 IL16 Synonymous SNV S373S 0.01 0.023 0.007 4 12 9 0.01 2 0 0 0 0 Benign 9.312 20391 chr17 39383012 39383012 C T rs9903833 KRTAP9-2 Nonsynonymous SNV P36S 0.476 0.479 0.503 187 559 184 0.479 148 1 0 10 1 15.07 20392 chr5 19721490 19721490 T C rs12187552 CDH18 Synonymous SNV Q203Q 0.997 1 0.997 389 1170 384 0.997 293 584 192 146 194 1.911 20393 chr15 77087704 77087704 T C rs777491258 SCAPER Nonsynonymous SNV H230R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.59 20394 chr17 39383027 39383027 G T rs71371478 KRTAP9-2 Nonsynonymous SNV A41S 0.308 0.333 0.085 114 362 128 0.292 25 0 0 0 0 0.002 20395 chr5 21752050 21752050 A G rs6451992 CDH12 Synonymous SNV D503D 0.717 0.695 0.694 270 842 267 0.692 204 293 97 70 93 0.095 20396 chr5 21752056 21752056 A G rs6451993 CDH12 Synonymous SNV D501D 0.721 0.698 0.694 276 847 268 0.708 204 296 98 70 96 0.008 20397 chr17 39383041 39383041 C T rs71371479 KRTAP9-2 Synonymous SNV S45S 0.267 0.289 0.037 100 314 111 0.256 11 0 0 0 0 13.82 20398 chr5 26988328 26988328 G A rs2288466 CDH9 Nonsynonymous SNV A38V 0.413 0.393 0.388 138 485 151 0.354 114 99 32 23 22 13.07 20399 chr15 81625229 81625231 TCT - rs556446587 TMC3 E947del 0.01 0.023 0.007 3 12 9 0.008 2 0 0 0 0 20400 chr17 39383073 39383073 G C rs9902235 KRTAP9-2 Nonsynonymous SNV C56S 0.6 0.633 0.728 256 704 243 0.656 214 158 62 76 75 13.33 20401 chr15 77407114 77407114 C G rs1867780 PEAK1 Nonsynonymous SNV S1542T 0.223 0.216 0.238 118 262 83 0.303 70 28 8 13 19 11.3 20402 chr15 75969493 75969493 G A rs150424346 CSPG4 Synonymous SNV G1789G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.083 20403 chr5 26988424 26988424 T C rs2288467 CDH9 Nonsynonymous SNV Y6C 0.409 0.393 0.384 136 480 151 0.349 113 97 32 22 22 0.193 20404 chr17 39383335 39383335 C G rs238787 KRTAP9-2 Synonymous SNV P143P 0.889 0.904 0.81 348 1044 347 0.892 238 461 159 106 155 11.31 20405 chr5 31302288 31302288 C T rs2287582 CDH6 Synonymous SNV D294D 0.468 0.456 0.524 199 550 175 0.51 154 127 41 45 49 15.2 20406 chr17 39388852 39388852 T C rs1860551 KRTAP9-3 Synonymous SNV C33C 0.913 0.938 0.898 365 1072 360 0.936 264 495 173 126 173 0.005 20407 chr15 90794102 90794102 G A rs4932171 TTLL13P 0.198 0.143 0.194 58 232 55 0.149 57 18 6 4 2 11.62 20408 chr4 155410909 155410909 A G rs35172627 DCHS2 Synonymous SNV N533N 0.305 0.336 0.32 125 358 129 0.321 94 55 21 18 26 0.015 20409 chr17 39394674 39394674 A G rs62065317 KRTAP9-8 Nonsynonymous SNV N124S 0.767 0.805 0.639 306 901 309 0.785 188 344 124 66 120 0.004 20410 chr5 31317494 31317494 C T rs2302904 CDH6 Synonymous SNV L509L 0.479 0.458 0.51 201 562 176 0.515 150 130 40 43 50 14.95 20411 chr15 90796558 90796558 G A rs12912620 TTLL13P 0.204 0.161 0.197 61 240 62 0.156 58 18 6 4 2 23 20412 chr15 65693258 65693258 C T rs35223184 IGDCC4 Nonsynonymous SNV D243N 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 24 20413 chr15 76468034 76468034 C T rs765214179 LOC101929439 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.26 20414 chr15 76523730 76523730 T G rs141200145 ETFA Nonsynonymous SNV I227L 0.009 0.013 0.007 5 11 5 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 20415 chr5 31317529 31317529 A G rs2302903 CDH6 Synonymous SNV G520G 0.477 0.456 0.514 201 560 175 0.515 151 129 40 43 50 1.884 20416 chr17 39406104 39406104 T G rs11655843 KRTAP9-4 Synonymous SNV V44V 0.593 0.654 0.707 247 696 251 0.633 208 339 123 74 120 0.939 20417 chr15 90800408 90800408 C G rs2063742 TTLL13P 0.204 0.169 0.201 61 240 65 0.156 59 18 7 4 3 12.27 20418 chr5 31317952 31317952 T C rs2229575 CDH6 Synonymous SNV H601H 0.48 0.456 0.517 200 564 175 0.513 152 132 40 44 50 1.159 20419 chr17 39406409 39406409 C A rs2191379 KRTAP9-4 Nonsynonymous SNV S146Y 0.762 0.802 0.724 306 895 308 0.785 213 339 123 75 120 8.2 20420 chr15 86278309 86278309 G A rs2241268 AKAP13 Nonsynonymous SNV G1078S 0.381 0.352 0.313 147 447 135 0.377 92 88 17 13 31 19.97 20421 chr15 90800449 90800449 C T rs2063743 TTLL13P 0.204 0.169 0.201 61 239 65 0.156 59 18 7 4 3 21.3 20422 chr4 155411649 155411649 G A rs13130030 DCHS2 Synonymous SNV L287L 0.51 0.529 0.493 199 599 203 0.51 145 153 55 39 55 8.729 20423 chr5 31515657 31515657 G A rs55656741 DROSHA Nonsynonymous SNV S321L 0.391 0.375 0.459 141 459 144 0.362 135 99 32 33 30 12.55 20424 chr17 39421781 39421781 A G rs12938374 KRTAP9-6 Nonsynonymous SNV Y51C 0.76 0.794 0.677 302 892 305 0.774 199 339 123 72 118 13 20425 chr4 155411939 155411939 A C rs17373874 DCHS2 Nonsynonymous SNV V190G 0.514 0.526 0.497 200 603 202 0.513 146 157 55 39 55 0.105 20426 chr5 31538692 31538692 A C rs17410000 C5orf22 Nonsynonymous SNV T235P 0.27 0.255 0.333 108 317 98 0.277 98 48 14 16 15 0.002 20427 chr15 86311695 86311695 G A rs1978391 KLHL25 Synonymous SNV F449F 0.376 0.344 0.306 144 442 132 0.369 90 88 16 13 31 1.851 20428 chr17 39458765 39458765 A G rs1005197 KRTAP29-1 Synonymous SNV S113S 0.762 0.799 0.731 306 895 307 0.785 215 339 123 76 120 0.032 20429 chr4 155412464 155412464 C T rs13149269 DCHS2 Nonsynonymous SNV R15Q 0.503 0.523 0.49 194 591 201 0.497 144 149 54 39 53 0.025 20430 chr17 39503163 39503163 G A rs12937519 KRT33A Nonsynonymous SNV A270V 0.229 0.193 0.204 84 269 74 0.215 60 30 8 5 9 23.9 20431 chr15 86312681 86312681 G A rs11073537 KLHL25 Synonymous SNV L121L 0.374 0.341 0.306 144 439 131 0.369 90 88 16 13 32 5.252 20432 chr5 32058115 32058115 A G rs151861 PDZD2 Synonymous SNV S702S 0.97 0.987 0.966 381 1139 379 0.977 284 552 187 137 186 0.09 20433 chr5 32087253 32087253 A G rs157495 PDZD2 Synonymous SNV S1233S 0.284 0.333 0.259 124 333 128 0.318 76 42 23 10 15 0.108 20434 chr17 3953083 3953083 T C rs781853 ZZEF1 Synonymous SNV P1978P 0.398 0.422 0.432 153 467 162 0.392 127 88 34 26 37 0.135 20435 chr15 83449000 83449000 T C rs763067455 FSD2 Nonsynonymous SNV D329G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.46 20436 chr5 32087374 32087374 A G rs157496 PDZD2 Nonsynonymous SNV T1274A 0.284 0.333 0.259 125 333 128 0.321 76 42 23 10 15 0.001 20437 chr17 3953102 3953102 A G rs781852 ZZEF1 Nonsynonymous SNV L1972P 0.397 0.419 0.432 153 466 161 0.392 127 87 33 26 37 13.2 20438 chr15 73615097 73615097 T C rs142735148 HCN4 Nonsynonymous SNV M1113V 0.02 0.034 0.017 12 23 13 0.031 5 0 1 0 0 Benign 0.001 20439 chr4 155488821 155488821 C T rs6056 FGB Synonymous SNV S130S 0.171 0.19 0.214 61 201 73 0.156 63 24 8 9 7 Benign 9.064 20440 chr17 39535859 39535859 A G rs2239710 KRT34 Nonsynonymous SNV I280T 0.721 0.68 0.643 262 847 261 0.672 189 316 89 60 91 5.857 20441 chr5 32087802 32087802 A G rs157497 PDZD2 Synonymous SNV P1416P 0.388 0.424 0.391 163 455 163 0.418 115 81 34 23 29 Benign 0.049 20442 chr4 155490832 155490832 C T rs4681 FGB Synonymous SNV Y316Y 0.17 0.19 0.211 61 200 73 0.156 62 24 8 8 7 Benign 0.014 20443 chr15 91337479 91337479 G A rs2227933 BLM Synonymous SNV T1034T 0.128 0.112 0.122 53 150 43 0.136 36 15 3 4 1 Benign 13.42 20444 chr17 39580559 39580559 T A rs9916475 KRT37 Nonsynonymous SNV S73C 0.473 0.464 0.51 198 555 178 0.508 150 123 40 37 60 7.959 20445 chr5 32400266 32400266 A G rs1051489 ZFR Nonsynonymous SNV I520T 0.44 0.458 0.422 176 517 176 0.451 124 124 38 28 40 19.3 20446 chr4 155491759 155491759 G A rs4220 FGB Nonsynonymous SNV R419K 0.17 0.19 0.218 61 200 73 0.156 64 24 8 9 7 Benign 0.077 20447 chr15 91346923 91346923 C A rs2227934 BLM Synonymous SNV A1177A 0.127 0.112 0.122 53 149 43 0.136 36 15 3 4 1 Benign 13.5 20448 chr17 39580562 39580562 T C rs9916484 KRT37 Nonsynonymous SNV T72A 0.473 0.464 0.51 198 555 178 0.508 150 123 40 37 60 4.602 20449 chr5 32403346 32403346 C T rs4867440 ZFR Nonsynonymous SNV V461I 0.933 0.953 0.915 359 1095 366 0.921 269 510 174 123 166 13.03 20450 chr15 91354505 91354505 C T rs1063147 BLM Synonymous SNV L1184L 0.123 0.107 0.122 47 144 41 0.121 36 15 3 4 1 Benign 11.69 20451 chr15 78585106 78585106 C T rs2280364 WDR61 Synonymous SNV Q57Q 0.093 0.06 0.065 28 109 23 0.072 19 6 1 0 3 11.56 20452 chr17 39580660 39580660 T C rs9916724 KRT37 Nonsynonymous SNV N39S 0.472 0.464 0.507 198 554 178 0.508 149 123 40 37 60 2.162 20453 chr4 156706435 156706435 T G rs17033528 GUCY1B1 Nonsynonymous SNV I106S 0.016 0.021 0.027 6 19 8 0.015 8 1 0 0 0 4.039 20454 chr15 86702241 86702241 C T rs79814209 AGBL1 Nonsynonymous SNV R158C 0.054 0.049 0.027 21 63 19 0.054 8 0 0 0 0 23.9 20455 chr5 33535060 33535060 G A rs25754 ADAMTS12 Nonsynonymous SNV T1410I 0.376 0.375 0.357 139 442 144 0.356 105 85 25 20 30 24.2 20456 chr17 39580739 39580739 C A rs9910204 KRT37 Nonsynonymous SNV G13C 0.334 0.339 0.32 141 392 130 0.362 94 60 20 18 29 23.8 20457 chr5 33751454 33751454 A T rs1530507 ADAMTS12 Stop gain L230X 0.761 0.792 0.738 291 893 304 0.746 217 336 121 80 107 2.152 20458 chr17 39593768 39593768 A G rs897416 KRT38 Nonsynonymous SNV S423P 0.895 0.883 0.891 359 1051 339 0.921 262 472 149 123 166 0.342 20459 chr4 156721107 156721107 T C rs17033562 GUCY1B1 Synonymous SNV L284L 0.012 0.013 0.027 5 14 5 0.013 8 0 0 0 0 1.913 20460 chr5 33951693 33951693 C G rs16891982 SLC45A2 Nonsynonymous SNV L374F 0.836 0.888 0.854 343 982 341 0.879 251 411 150 111 148 Benign 27.4 20461 chr17 39616430 39616430 G T rs2604953 KRT32 Nonsynonymous SNV P427T 0.917 0.93 0.898 367 1076 357 0.941 264 492 165 120 172 1.102 20462 chr15 91455458 91455458 C T rs80163910 MAN2A2 Synonymous SNV L765L 0.049 0.044 0.041 25 57 17 0.064 12 0 1 0 1 13.86 20463 chr15 91496242 91496242 C T rs8041035 UNC45A Nonsynonymous SNV T651M 0.05 0.042 0.037 28 59 16 0.072 11 0 0 0 1 34 20464 chr15 74467796 74467796 C T rs11854957 ISLR Synonymous SNV A199A 0.088 0.083 0.088 29 103 32 0.074 26 2 1 0 1 8.239 20465 chr4 158073913 158073913 T C rs1801154 GLRB Synonymous SNV L316L 0.04 0.049 0.037 13 47 19 0.033 11 1 0 0 0 Benign 0.039 20466 chr17 39620565 39620565 C T rs72830046 KRT32 Nonsynonymous SNV R280H 0.304 0.307 0.313 125 357 118 0.321 92 48 16 15 20 23.9 20467 chr5 33954511 33954511 T C rs2287949 SLC45A2 Nonsynonymous SNV S221G 0.958 0.966 0.956 379 1125 371 0.972 281 539 179 134 184 Benign 3.522 20468 chr15 78783019 78783019 G A rs139092247 IREB2 Nonsynonymous SNV G497E 0.009 0.013 0.01 1 10 5 0.003 3 0 0 0 0 33 20469 chr15 91499986 91499986 G T rs4932380 RCCD1 Nonsynonymous SNV A8S 0.094 0.096 0.126 51 110 37 0.131 37 10 2 4 4 0.084 20470 chr15 74487969 74487969 A T rs971756 STRA6 Nonsynonymous SNV L152M 0.088 0.081 0.092 31 103 31 0.079 27 2 0 0 2 4.49 20471 chr17 39622068 39622068 G T rs2071561 KRT32 Nonsynonymous SNV S222Y 0.497 0.487 0.565 197 583 187 0.505 166 138 47 43 51 26 20472 chr5 33988535 33988535 C T rs15612 C1QTNF3-AMACR 0.158 0.146 0.33 80 185 56 0.205 97 45 14 11 14 Benign/Likely benign 2.157 20473 chr5 33998883 33998883 A G rs2287939 AMACR Nonsynonymous SNV L201S 0.701 0.734 0.66 267 823 282 0.685 194 285 102 63 92 Benign 0.09 20474 chr17 39623363 39623363 T C rs3744786 KRT32 Nonsynonymous SNV Q72R 0.356 0.354 0.361 138 418 136 0.354 106 74 22 16 23 0.001 20475 chr15 91500554 91500554 C T rs146488462 RCCD1 Synonymous SNV A126A 0.017 0.008 0.02 7 20 3 0.018 6 0 0 0 0 Benign 15.76 20476 chr15 74488424 74488424 G A rs11857410 STRA6 Synonymous SNV L111L 0.088 0.081 0.092 31 103 31 0.079 27 2 0 0 2 Benign 5.751 20477 chr17 39633317 39633317 A G rs2239711 KRT35 Synonymous SNV G453G 0.744 0.719 0.718 281 874 276 0.721 211 321 99 80 105 15.57 20478 chr5 34807928 34807928 C T rs6895634 RAI14 Synonymous SNV V107V 0.45 0.492 0.388 179 528 189 0.459 114 116 48 26 43 18.44 20479 chr15 91509734 91509734 A G rs14280 PRC1-AS1 0.102 0.102 0.102 40 120 39 0.103 30 2 1 2 1 Uncertain significance 8.788 20480 chr17 39633349 39633349 G C rs2071601 KRT35 Nonsynonymous SNV P443A 0.603 0.583 0.534 221 708 224 0.567 157 214 65 41 67 25.1 20481 chr15 74565200 74565200 G A rs764526996 CCDC33 Nonsynonymous SNV V243M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 21.6 20482 chr5 34811137 34811137 T G rs2271522 RAI14 Synonymous SNV L149L 0.351 0.388 0.296 136 412 149 0.349 87 67 24 16 28 9.196 20483 chr5 34824555 34824555 G T rs1048944 RAI14 Nonsynonymous SNV A841S 0.48 0.521 0.473 208 564 200 0.533 139 158 56 34 60 11.97 20484 chr17 39634625 39634625 A G rs7216017 KRT35 Synonymous SNV A329A 0.603 0.589 0.537 221 708 226 0.567 158 214 67 42 67 7.036 20485 chr17 39637244 39637244 A G rs743686 KRT35 Nonsynonymous SNV S36P 0.603 0.589 0.541 220 708 226 0.564 159 214 67 42 67 23.6 20486 chr15 91525318 91525318 C T rs11857612 PRC1-AS1 0.069 0.047 0.031 26 81 18 0.067 9 0 0 2 1 Uncertain significance 5.712 20487 chr15 74907946 74907946 A G rs139096840 CLK3 Nonsynonymous SNV T51A 0.027 0.018 0.031 16 32 7 0.041 9 4 0 0 1 0.001 20488 chr5 34998778 34998778 C A rs16899972 AGXT2 0.495 0.547 0.51 180 581 210 0.462 150 150 51 36 40 5.082 20489 chr17 39643646 39643646 G A rs2301354 KRT36 Nonsynonymous SNV T315M 0.608 0.589 0.503 223 714 226 0.572 148 219 67 40 68 25.1 20490 chr5 35010138 35010138 A G rs466067 AGXT2 Synonymous SNV G360G 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 3.913 20491 chr15 79185898 79185898 C A rs1435163 MORF4L1 Synonymous SNV A98A 0.141 0.117 0.014 56 166 45 0.144 4 15 4 0 7 17.42 20492 chr4 162307060 162307060 G T rs17040984 FSTL5 Synonymous SNV R785R 0.252 0.242 0.235 108 296 93 0.277 69 39 10 10 10 6.044 20493 chr15 75137868 75137868 C A rs10220747 SCAMP2 Synonymous SNV V267V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 20.3 20494 chr5 35033605 35033605 G A rs180749 AGXT2 Nonsynonymous SNV T212I 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 0.305 20495 chr17 39646021 39646021 A G rs1003842 KRT36 Synonymous SNV R32R 0.756 0.727 0.752 285 888 279 0.731 221 331 100 83 108 0.058 20496 chr15 91561061 91561061 G T rs11542638 VPS33B Synonymous SNV R51R 0.095 0.076 0.105 33 111 29 0.085 31 2 0 4 1 Benign 12.36 20497 chr15 68612556 68612556 T C rs2271724 ITGA11 Synonymous SNV S861S 0.025 0.044 0.065 11 29 17 0.028 19 1 0 1 0 0.687 20498 chr17 39659194 39659194 T C rs4796697 KRT13 Nonsynonymous SNV T298A 0.978 0.984 0.966 371 1148 378 0.951 284 561 186 137 178 0.026 20499 chr15 91827438 91827438 G A rs34715451 SV2B Synonymous SNV R454R 0.069 0.068 0.078 23 81 26 0.059 23 1 0 2 1 10.05 20500 chr5 35039486 35039486 C T rs37370 AGXT2 Nonsynonymous SNV S102N 0.907 0.94 0.884 342 1065 361 0.877 260 482 171 115 149 16.53 20501 chr15 68613778 68613778 G T rs3736494 ITGA11 Synonymous SNV R796R 0.181 0.185 0.224 86 213 71 0.221 66 22 5 6 13 13.32 20502 chr17 39659913 39659913 G A rs9891361 KRT13 Nonsynonymous SNV A187V 0.863 0.891 0.864 330 1013 342 0.846 254 439 153 109 140 Benign 27.1 20503 chr15 68613787 68613787 A G rs3736493 ITGA11 Synonymous SNV L793L 0.181 0.185 0.224 86 213 71 0.221 66 22 5 6 13 9.642 20504 chr5 35641582 35641582 A C rs6897513 SPEF2 Nonsynonymous SNV N71H 0.487 0.521 0.493 182 572 200 0.467 145 145 55 39 40 Benign 9.557 20505 chr17 3966064 3966064 A G rs781825 ZZEF1 Synonymous SNV C1622C 0.405 0.427 0.435 156 475 164 0.4 128 90 33 27 37 8.687 20506 chr15 79296172 79296172 G A rs1562008 RASGRF1 Synonymous SNV P39P 0.212 0.242 0.235 98 249 93 0.251 69 29 6 8 13 8.719 20507 chr17 39661689 39661689 G A rs8182306 KRT13 Synonymous SNV S38S 0.928 0.932 0.918 359 1090 358 0.921 270 505 166 123 167 9.445 20508 chr5 35644621 35644621 T C rs7706444 SPEF2 Synonymous SNV I193I 0.601 0.677 0.466 233 706 260 0.597 137 217 89 49 71 Benign 0.005 20509 chr15 92981647 92981647 C T ST8SIA2 Nonsynonymous SNV P98S 0.005 0.008 0 2 6 3 0.005 0 1 0 0 0 24.9 20510 chr17 39670912 39670912 G C rs897420 KRT15 Nonsynonymous SNV A421G 0.999 1 0.986 389 1173 384 0.997 290 586 192 144 194 1.048 20511 chr15 68628049 68628049 T G rs2306024 ITGA11 Nonsynonymous SNV M471L 0.04 0.052 0.082 23 47 20 0.059 24 1 1 1 1 15.26 20512 chr5 35654711 35654711 C T rs2270558 SPEF2 Synonymous SNV D287D 0.438 0.474 0.493 169 514 182 0.433 145 143 54 39 41 Benign 10.99 20513 chr15 93015221 93015221 G A rs1455776 C15orf32 0.319 0.281 0.007 116 374 108 0.297 2 64 14 1 16 2.957 20514 chr17 39671724 39671724 T C rs2305556 KRT15 Nonsynonymous SNV K416R 0.164 0.141 0.173 63 192 54 0.162 51 16 4 6 6 17.09 20515 chr5 35700598 35700598 T C rs6451206 SPEF2 Synonymous SNV N714N 0.572 0.542 0.582 244 671 208 0.626 171 192 52 58 71 Benign 0.028 20516 chr15 93015278 93015278 T C rs1455775 C15orf32 0.545 0.523 0.316 207 640 201 0.531 93 174 48 36 59 0.91 20517 chr4 165878162 165878162 T C rs3733420 FAM218A 0.102 0.089 0.058 37 120 34 0.095 17 7 3 2 1 2.114 20518 chr15 93015321 93015321 T G rs1455774 C15orf32 0.349 0.323 0.316 127 410 124 0.326 93 72 18 25 21 3.001 20519 chr5 35709095 35709095 C T rs13170082 SPEF2 Nonsynonymous SNV A904V 0.816 0.802 0.83 331 958 308 0.849 244 394 127 107 137 Benign 12.35 20520 chr15 93015427 93015427 G A rs1455773 C15orf32 0.348 0.323 0.364 126 409 124 0.323 107 72 18 24 21 11.47 20521 chr17 39674641 39674641 T C rs1050784 KRT15 Nonsynonymous SNV T147A 0.705 0.734 0.66 273 828 282 0.7 194 287 106 67 96 0.001 20522 chr4 165878170 165878170 A G rs3733419 FAM218A 0.175 0.151 0.136 57 205 58 0.146 40 15 8 5 3 3.807 20523 chr15 75500549 75500549 C A rs767973543 C15orf39 Synonymous SNV A720A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.01 20524 chr15 79586135 79586135 T G ANKRD34C Nonsynonymous SNV V170G 0.003 0 0 0 3 0 0 0 0 0 0 0 15.71 20525 chr15 79750253 79750253 G A rs74911404 MINAR1 Synonymous SNV S588S 0.029 0.018 0.01 9 34 7 0.023 3 0 0 0 0 8.918 20526 chr4 165878335 165878335 A G rs3733418 FAM218A 0.179 0.148 0.163 55 210 57 0.141 48 15 8 6 3 0.002 20527 chr15 69238272 69238272 G T rs3743091 SPESP1 Nonsynonymous SNV L133F 0.034 0.034 0.041 5 40 13 0.013 12 2 0 0 0 23.1 20528 chr5 35709184 35709184 G C rs13170390 SPEF2 Nonsynonymous SNV A934P 0.817 0.807 0.837 330 959 310 0.846 246 395 128 107 136 Benign 0.02 20529 chr17 39681475 39681475 A G rs4601 KRT19 Synonymous SNV N157N 0.706 0.734 0.66 274 829 282 0.703 194 288 106 67 97 not provided 8.721 20530 chr17 39723990 39723990 T A rs3890472 KRT9 Synonymous SNV G469G 0.599 0.563 0.469 229 703 216 0.587 138 207 59 34 74 Benign 8.333 20531 chr5 35861068 35861068 T C rs1494558 IL7R Nonsynonymous SNV I66T 0.662 0.599 0.663 266 777 230 0.682 195 249 68 66 91 Benign 0.02 20532 chr15 89401184 89401184 T A rs201149160 ACAN Nonsynonymous SNV S1790T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 20533 chr17 39727816 39727816 T G rs8075921 KRT9 Synonymous SNV G143G 0.591 0.563 0.459 227 694 216 0.582 135 201 59 34 72 Benign 0.043 20534 chr17 39728050 39728050 G A rs8070680 KRT9 Synonymous SNV G65G 0.707 0.659 0.595 272 830 253 0.697 175 292 83 55 97 Benign 7.7 20535 chr5 35871190 35871190 G A rs1494555 IL7R Nonsynonymous SNV V138I 0.669 0.602 0.67 271 785 231 0.695 197 254 68 67 93 Benign 0.106 20536 chr17 3981290 3981290 A G rs78806449 ZZEF1 Nonsynonymous SNV V959A 0.067 0.065 0.075 18 79 25 0.046 22 4 2 1 1 15.09 20537 chr15 75969579 75969579 A G rs150717520 CSPG4 Synonymous SNV L1761L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.005 20538 chr17 39871700 39871700 G A rs7220169 GAST Synonymous SNV L4L 0.915 0.898 0.932 354 1074 345 0.908 274 495 153 128 160 1.06 20539 chr5 35874575 35874575 C T rs6897932 IL7R Nonsynonymous SNV T244I 0.198 0.182 0.153 87 232 70 0.223 45 25 5 3 10 Benign 0.925 20540 chr15 93545488 93545488 T A rs61756301 CHD2 Nonsynonymous SNV S1407T 0.024 0.013 0.017 17 28 5 0.044 5 1 0 0 0 Benign 16.17 20541 chr17 39874267 39874267 T A rs7218465 HAP1 Nonsynonymous SNV E448V 0.912 0.896 0.922 354 1071 344 0.908 271 494 152 127 160 2.35 20542 chr17 39881289 39881289 G C rs8075017 HAP1 Nonsynonymous SNV F491L 0.914 0.896 0.932 354 1073 344 0.908 274 494 152 128 160 0.018 20543 chr5 35876274 35876274 A G rs3194051 IL7R Nonsynonymous SNV I356V 0.353 0.305 0.378 126 415 117 0.323 111 78 16 23 21 Benign 0.002 20544 chr17 39883595 39883595 T C rs7216154 HAP1 Synonymous SNV P430P 0.595 0.599 0.639 229 698 230 0.587 188 213 68 60 69 0.426 20545 chr15 81271589 81271589 G C rs1021282486 MESD Nonsynonymous SNV R226G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.09 20546 chr15 69709792 69709792 C T rs61751119 KIF23 Nonsynonymous SNV T51I 0.06 0.034 0.065 27 71 13 0.069 19 3 0 0 0 27.7 20547 chr15 89415247 89415247 C G rs3817428 ACAN Nonsynonymous SNV D2335E 0.181 0.195 0.19 91 212 75 0.233 56 21 7 5 11 27.6 20548 chr5 35910529 35910529 C T rs1445898 CAPSL Nonsynonymous SNV R85Q 0.409 0.388 0.378 159 480 149 0.408 111 96 23 23 30 8.32 20549 chr17 39883672 39883672 G A rs11867808 HAP1 Nonsynonymous SNV R405W 0.391 0.393 0.367 160 459 151 0.41 108 90 33 33 35 13.32 20550 chr17 39884065 39884065 C A rs35612698 HAP1 Nonsynonymous SNV L440F 0.387 0.401 0.476 146 454 154 0.374 140 97 31 38 30 23.3 20551 chr5 35962984 35962984 A G rs1070895 UGT3A1 Nonsynonymous SNV W251R 0.838 0.807 0.799 319 984 310 0.818 235 415 123 95 128 2.011 20552 chr15 89456544 89456544 G T rs4945 MFGE8 Nonsynonymous SNV R3S 0.183 0.198 0.163 75 215 76 0.192 48 32 16 18 14 5.142 20553 chr17 39884091 39884091 G C rs4796601 HAP1 Nonsynonymous SNV Q432E 0.759 0.758 0.779 299 891 291 0.767 229 335 106 91 114 12.65 20554 chr5 36142648 36142648 A G rs12658867 LMBRD2 Synonymous SNV N76N 0.411 0.388 0.456 156 483 149 0.4 134 99 20 31 32 6.902 20555 chr17 39884583 39884583 G A rs4796693 HAP1 Nonsynonymous SNV S365L 0.759 0.747 0.779 299 891 287 0.767 229 335 106 91 114 14.4 20556 chr5 36143392 36143392 C T rs267766 LMBRD2 Synonymous SNV L20L 0.417 0.401 0.449 158 489 154 0.405 132 100 24 32 32 14.37 20557 chr15 94841691 94841691 G A rs61737195 MCTP2 Nonsynonymous SNV R66Q 0.118 0.133 0.102 43 139 51 0.11 30 13 1 1 2 14.72 20558 chr5 36248752 36248752 T G rs7722251 RANBP3L Nonsynonymous SNV L492F 0.95 0.94 0 380 1115 361 0.974 0 529 171 0 185 4.975 20559 chr17 39890715 39890715 A T rs4796603 HAP1 Nonsynonymous SNV S58T 0.775 0.773 0.796 310 910 297 0.795 234 351 110 93 123 14.02 20560 chr5 36269551 36269551 G C rs1035480 RANBP3L Nonsynonymous SNV T70R 0.95 0.94 0.946 380 1115 361 0.974 278 529 171 132 185 11.52 20561 chr15 94884108 94884108 G C rs8025851 MCTP2 Synonymous SNV V308V 0.537 0.539 0.476 193 630 207 0.495 140 180 49 37 43 10.64 20562 chr17 39912145 39912145 T A rs1126821 JUP Nonsynonymous SNV M697L 0.737 0.693 0.731 300 865 266 0.769 215 324 93 77 113 Benign 11.97 20563 chr5 36985303 36985303 A G rs3822471 NIPBL Nonsynonymous SNV N674S 0.164 0.133 0.173 66 192 51 0.169 51 16 3 9 3 Benign 0.057 20564 chr17 39925925 39925925 A G rs7405731 JUP Synonymous SNV D71D 0.779 0.813 0.806 311 914 312 0.797 237 359 125 97 123 Benign 2.432 20565 chr15 81644098 81644098 C T rs143929525 TMC3 Synonymous SNV V340V 0.01 0.005 0.003 2 12 2 0.005 1 0 0 0 0 12.91 20566 chr17 39983808 39983808 G C rs1046404 NT5C3B Nonsynonymous SNV S213C 0.807 0.794 0.84 339 948 305 0.869 247 376 119 105 148 27.6 20567 chr5 37173930 37173930 A C rs10076911 CPLANE1 Nonsynonymous SNV F2033C 0.151 0.133 0.15 58 177 51 0.149 44 13 3 5 1 Benign 2.936 20568 chr15 98504322 98504322 C T rs112100339 ARRDC4 Synonymous SNV A77A 0.349 0.339 0.207 142 410 130 0.364 61 75 23 11 26 7.849 20569 chr17 39983820 39983820 G A rs1046403 NT5C3B Nonsynonymous SNV A209V 0.807 0.794 0.84 339 948 305 0.869 247 376 119 105 148 13.87 20570 chr5 37182902 37182902 G A rs75589774 CPLANE1 Nonsynonymous SNV P1794L 0.148 0.133 0.143 56 174 51 0.144 42 13 3 4 1 Benign 21.7 20571 chr17 39983849 39983849 G C rs1128966 NT5C3B Synonymous SNV L199L 0.807 0.794 0.84 339 948 305 0.869 247 376 119 105 148 10.53 20572 chr4 169432673 169432673 C T rs61051061 PALLD Synonymous SNV S6S 0.235 0.229 0.235 106 276 88 0.272 69 40 14 4 13 Benign 9.014 20573 chr17 39987130 39987130 T C rs4796712 NT5C3B Synonymous SNV A109A 0.902 0.911 0.942 366 1059 350 0.938 277 472 161 130 172 0.033 20574 chr17 39998141 39998141 C T rs1529933 KLHL10 Synonymous SNV P87P 0.834 0.818 0.844 343 979 314 0.879 248 403 125 105 152 15.98 20575 chr4 169432841 169432841 G A rs1806729 PALLD Synonymous SNV K62K 0.29 0.294 0.289 125 340 113 0.321 85 56 19 13 21 Benign 7.438 20576 chr5 37333727 37333727 A G rs150594 NUP155 Synonymous SNV A452A 0.182 0.164 0.207 73 214 63 0.187 61 16 6 7 5 6.54 20577 chr17 40010979 40010979 G A rs3744782 KLHL11 Synonymous SNV Y380Y 0.834 0.818 0.844 344 979 314 0.882 248 403 125 105 153 0.09 20578 chr5 37364443 37364443 C T rs217852 NUP155 Synonymous SNV L67L 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 13.63 20579 chr4 169433326 169433326 T C rs7655494 PALLD Nonsynonymous SNV M224T 0.291 0.294 0.289 124 342 113 0.318 85 57 19 13 21 Benign 0.001 20580 chr17 40048613 40048613 A G rs8065502 ACLY Synonymous SNV H607H 0.925 0.93 0.946 372 1086 357 0.954 278 499 167 131 178 1.035 20581 chr5 38370537 38370537 T C rs1465567 EGFLAM Nonsynonymous SNV W229R 0.178 0.203 0.173 83 209 78 0.213 51 22 4 7 6 2.969 20582 chr17 4015997 4015997 A G rs58625333 ZZEF1 Synonymous SNV N324N 0.227 0.253 0.238 74 267 97 0.19 70 21 11 4 8 5.242 20583 chr4 169433327 169433327 G A rs7671781 PALLD Nonsynonymous SNV M224I 0.291 0.294 0.289 124 342 113 0.318 85 57 19 13 21 Benign 0.002 20584 chr15 99023968 99023968 T G rs4528551 FAM169B Synonymous SNV L15L 0.359 0.378 0.388 137 421 145 0.351 114 68 26 25 25 6.794 20585 chr17 40312348 40312348 C T rs145104718 KCNH4 Nonsynonymous SNV A922T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.25 20586 chr5 38486030 38486031 CA - rs907046324 LIFR L796Qfs*4 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20587 chr5 38527308 38527308 G A rs3729734 LIFR Nonsynonymous SNV H116Y 0.058 0.057 0.037 26 68 22 0.067 11 3 1 0 0 Likely benign 0.006 20588 chr4 169433333 169433333 C T rs7673220 PALLD Synonymous SNV D226D 0.291 0.294 0.289 124 342 113 0.318 85 57 19 13 21 Benign 3.911 20589 chr15 89871763 89871763 G C rs145289229 POLG Nonsynonymous SNV L392V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 20590 chr17 4046101 4046101 A G rs1454121 ZZEF1 Nonsynonymous SNV V30A 0.779 0.781 0.765 302 915 300 0.774 225 369 126 88 122 0.352 20591 chr4 169433444 169433444 C T rs72695199 PALLD Synonymous SNV S263S 0.167 0.18 0.153 72 196 69 0.185 45 25 9 2 6 Benign 12.63 20592 chr5 38919158 38919158 G A rs10941412 OSMR Nonsynonymous SNV E527K 0.156 0.159 0.16 72 183 61 0.185 47 16 3 5 7 22 20593 chr17 40666449 40666449 G A rs148307432 ATP6V0A1 Synonymous SNV S798S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 13.81 20594 chr4 169606649 169606649 C A rs62333891 PALLD Nonsynonymous SNV T43N 0.06 0.044 0.088 21 71 17 0.054 26 5 0 2 0 Benign 22.7 20595 chr15 86198846 86198846 A G rs35079107 AKAP13 Nonsynonymous SNV S165G 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign 13.27 20596 chr17 40689455 40689455 T C rs659497 NAGLU Synonymous SNV S141S 0.994 0.995 0.986 386 1167 382 0.99 290 580 190 143 191 Benign 3.055 20597 chr15 99544418 99544418 C T rs149174294 PGPEP1L Nonsynonymous SNV V7M 0.043 0.036 0.027 9 50 14 0.023 8 1 0 0 0 7.982 20598 chr17 40696233 40696233 C G rs86312 NAGLU Nonsynonymous SNV R737G 0.927 0.911 0.884 364 1088 350 0.933 260 505 162 118 172 Benign 23.7 20599 chr5 38950776 38950776 G A rs2115949 RICTOR Synonymous SNV S1058S 0.972 0.984 0.969 379 1141 378 0.972 285 554 186 138 184 2.897 20600 chr5 38955796 38955796 G A rs2043112 RICTOR Nonsynonymous SNV S837F 0.357 0.393 0.347 161 419 151 0.413 102 72 33 15 34 14.2 20601 chr17 40722162 40722162 G A rs1474040 MLX Synonymous SNV A183A 0.324 0.318 0.316 120 380 122 0.308 93 61 18 15 14 13.24 20602 chr17 40822308 40822308 C A rs8071056 PLEKHH3 Nonsynonymous SNV Q547H 0.705 0.698 0.568 286 828 268 0.733 167 407 130 81 142 14.58 20603 chr5 39141240 39141240 G A rs3188386 FYB1 Synonymous SNV S442S 0.23 0.216 0.231 81 270 83 0.208 68 36 6 8 9 8.647 20604 chr17 4085567 4085567 C T rs201910860 ANKFY1 Nonsynonymous SNV R719Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 20605 chr5 39331894 39331894 G A rs34882957 C9 Nonsynonymous SNV P167S 0.01 0.016 0.007 3 12 6 0.008 2 0 1 0 0 risk factor 25.3 20606 chr17 4088291 4088291 C T rs2020118 ANKFY1 Synonymous SNV T549T 0.928 0.935 0.881 368 1089 359 0.944 259 506 168 115 175 18.94 20607 chr5 40852317 40852317 A G rs61748217 CARD6 Nonsynonymous SNV M295V 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 14.54 20608 chr17 41116234 41116234 G A rs690941 AARSD1, PTGES3L-AARSD1 Synonymous SNV S20S 0.998 1 0.997 388 1172 384 0.995 293 585 192 146 193 11.13 20609 chr17 41133071 41133071 T C rs1708875 RUNDC1 Nonsynonymous SNV W160R 0.998 1 0.993 388 1172 384 0.995 292 585 192 145 193 2.765 20610 chr15 78894420 78894420 A G rs8192480 CHRNA3 Synonymous SNV D188D 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 Benign 0.009 20611 chr5 40852451 40852451 C G rs188934 CARD6 Synonymous SNV T339T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.46 20612 chr4 175229859 175229859 G A rs147478051 CEP44 Nonsynonymous SNV R176H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 33 20613 chr15 90176073 90176073 C A rs3803530 KIF7 Nonsynonymous SNV S958I 0.507 0.487 0.007 197 595 187 0.505 2 160 54 1 53 Benign 22.5 20614 chr17 41165493 41165493 A G rs588703 IFI35 Nonsynonymous SNV M126V 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 10.23 20615 chr5 40955561 40955561 G C rs1063499 C7 Nonsynonymous SNV S389T 0.634 0.638 0.605 261 744 245 0.669 178 235 74 59 84 23.4 20616 chr15 73996198 73996198 C T rs764220550 CD276 Nonsynonymous SNV T165M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 20617 chr15 86838497 86838497 C T rs9630451 AGBL1 Synonymous SNV D744D 0.06 0.063 0.02 17 70 24 0.044 6 3 0 0 0 3.641 20618 chr17 41165878 41165878 C T rs13229 IFI35 Synonymous SNV N216N 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 11.09 20619 chr4 175598280 175598280 A G rs12648678 GLRA3 Synonymous SNV T292T 0.212 0.164 0.218 86 249 63 0.221 64 20 5 6 7 0.002 20620 chr17 41465867 41465867 A G rs12600401 LINC00910 0 0 0.354 0 0 0 0 104 0 0 18 0 7.305 20621 chr5 40998196 40998196 T C rs704040 MROH2B Synonymous SNV Q1572Q 0.632 0.628 0.629 249 742 241 0.638 185 229 75 59 81 2.738 20622 chr17 41466224 41466224 A C rs667082 LINC00910 0 0 0.531 0 0 0 0 156 0 0 15 0 8.165 20623 chr17 41466230 41466230 T C rs62080667 LINC00910 0 0 0.537 0 0 0 0 158 0 0 16 0 5.752 20624 chr17 41466239 41466239 T C rs62080668 LINC00910 0 0 0.537 0 0 0 0 158 0 0 18 0 5.564 20625 chr5 40998235 40998235 C T rs722575 MROH2B Synonymous SNV P1559P 0.412 0.411 0.405 176 484 158 0.451 119 91 33 24 42 11.57 20626 chr17 41466257 41466257 A C rs77213838 LINC00910 0 0 0.619 0 0 0 0 182 0 0 42 0 7.663 20627 chr17 41522213 41522213 T A rs7207008 MIR2117, MIR2117HG 0 0 0.486 0 0 0 0 143 0 0 29 0 12.19 20628 chr5 41000343 41000343 G A rs1001420 MROH2B Synonymous SNV Y1487Y 0.688 0.69 0.68 275 808 265 0.705 200 269 94 69 99 0.031 20629 chr16 11001680 11001680 G T rs34685848 CIITA Synonymous SNV S777S 0.08 0.052 0.041 20 94 20 0.051 12 5 0 0 0 Benign 0.6 20630 chr17 41603882 41603882 T C rs9915640 DHX8 Synonymous SNV P1154P 0.286 0.313 0.286 130 336 120 0.333 84 48 17 9 25 0.201 20631 chr5 41008780 41008780 A G rs2271704 MROH2B Nonsynonymous SNV L1179P 0.865 0.865 0.861 338 1015 332 0.867 253 436 142 110 145 14.52 20632 chr17 41891437 41891437 G A rs17742929 MPP3 Synonymous SNV H424H 0.264 0.224 0.214 74 310 86 0.19 63 35 8 10 9 11.41 20633 chr17 41931375 41931375 A G rs12453522 CD300LG Nonsynonymous SNV T194A 0.215 0.19 0.194 72 252 73 0.185 57 30 4 5 6 0.001 20634 chr5 41018452 41018452 A T rs10054110 MROH2B Nonsynonymous SNV N918K 0.349 0.323 0.32 127 410 124 0.326 94 72 21 14 19 0.466 20635 chr17 41959808 41959808 T C rs124721 MPP2 Synonymous SNV Q164Q 0.876 0.917 0.908 340 1029 352 0.872 267 449 162 121 148 1.157 20636 chr16 11154770 11154770 G A rs2286973 CLEC16A Synonymous SNV V651V 0.506 0.526 0.449 193 594 202 0.495 132 154 50 33 52 10.8 20637 chr17 41960343 41960343 T C rs124719 MPP2 Synonymous SNV T116T 0.858 0.904 0.881 334 1007 347 0.856 259 432 157 117 143 8.97 20638 chr5 41042284 41042284 G T rs325854 MROH2B Synonymous SNV T621T 0.811 0.805 0.82 325 952 309 0.833 241 391 121 99 138 11.01 20639 chr17 41960633 41960633 C G rs412849 MPP2 Nonsynonymous SNV V70L 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 7.413 20640 chr5 41048533 41048533 C T rs13173930 MROH2B Nonsynonymous SNV R526H 0.363 0.367 0.418 155 426 141 0.397 123 81 16 25 31 16.74 20641 chr17 41960634 41960634 G C rs440755 MPP2 Nonsynonymous SNV H69Q 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 7.321 20642 chr5 41049389 41049389 T C rs325863 MROH2B Synonymous SNV T498T 0.909 0.901 0.898 353 1067 346 0.905 264 491 155 120 162 5.703 20643 chr15 79755604 79755604 A G rs2297773 MINAR1 Nonsynonymous SNV I832V 0.191 0.203 0.255 60 224 78 0.154 75 23 4 10 4 0.002 20644 chr17 42030531 42030531 G C rs1058046 PYY Nonsynonymous SNV T72R 0.673 0.643 0.667 257 790 247 0.659 196 264 77 69 90 8.989 20645 chr5 41049397 41049397 C T rs325864 MROH2B Nonsynonymous SNV V496I 0.909 0.901 0.898 353 1067 346 0.905 264 491 155 120 162 11.93 20646 chr15 89388905 89388905 C T rs16942341 ACAN Synonymous SNV V407V 0.062 0.078 0.037 25 73 30 0.064 11 2 1 0 1 9.9 20647 chr17 42030743 42030743 G C rs229969 PYY Nonsynonymous SNV R37G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 10.76 20648 chr15 74565181 74565181 G A rs79172627 CCDC33 Synonymous SNV P236P 0.068 0.107 0.085 37 80 41 0.095 25 3 2 2 1 1.199 20649 chr5 41061716 41061716 A G rs865093 MROH2B Nonsynonymous SNV W191R 0.874 0.87 0.854 339 1026 334 0.869 251 456 144 107 148 9.925 20650 chr17 42164885 42164885 G C rs228757 HDAC5 Nonsynonymous SNV D594E 0.762 0.805 0.616 269 895 309 0.69 181 337 126 71 95 0.014 20651 chr15 85610408 85610408 G A rs139493851 PDE8A Nonsynonymous SNV R64Q 0.008 0.005 0 0 9 2 0 0 0 0 0 0 22.1 20652 chr16 11565481 11565481 G C rs4780378 LOC101927131 0.272 0.266 0 101 319 102 0.259 0 39 9 0 14 1.952 20653 chr5 41069852 41069852 T C rs13174484 MROH2B Nonsynonymous SNV M11V 0.355 0.37 0.408 155 417 142 0.397 120 71 20 25 29 0.004 20654 chr16 11769948 11769948 C T rs1050068 SNN Synonymous SNV G11G 0.404 0.411 0.395 179 474 158 0.459 116 98 38 28 38 14.2 20655 chr17 42248346 42248346 A T rs7218599 ASB16 Nonsynonymous SNV Q63H 0.892 0.885 0.854 342 1047 340 0.877 251 469 155 105 148 15.76 20656 chr15 74836313 74836313 G A rs779966496 ARID3B Synonymous SNV Q12Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.382 20657 chr15 89398553 89398553 C A rs35430524 ACAN Nonsynonymous SNV P913T 0.106 0.083 0.109 28 124 32 0.072 32 6 1 3 0 23.9 20658 chr16 11769963 11769963 C T rs1050069 SNN Synonymous SNV I16I 0.406 0.414 0.388 179 477 159 0.459 114 98 38 27 38 14.92 20659 chr5 41158863 41158863 G A rs6866352 C6 Synonymous SNV D627D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.714 20660 chr17 42392622 42392622 T C rs708386 RUNDC3A Synonymous SNV D243D 0.37 0.352 0.344 171 434 135 0.438 101 87 26 18 37 18.11 20661 chr5 41199959 41199959 G T rs1801033 C6 Nonsynonymous SNV A119E 0.649 0.612 0.639 250 762 235 0.641 188 248 74 60 84 Benign 10.34 20662 chr17 42398052 42398052 A G rs2011951 SLC25A39 Nonsynonymous SNV F224L 0.399 0.375 0.374 183 469 144 0.469 110 98 26 22 38 3.103 20663 chr15 89400043 89400043 G C rs28559926 ACAN Nonsynonymous SNV E1409D 0.058 0.065 0.027 23 68 25 0.059 8 2 1 0 1 0.048 20664 chr17 42437000 42437000 G A rs71371993 FAM171A2 Nonsynonymous SNV P129L 0.078 0.096 0.075 46 92 37 0.118 22 7 2 1 2 33 20665 chr15 89400680 89400680 A G rs28407189 ACAN Nonsynonymous SNV T1622A 0.062 0.078 0.037 25 73 30 0.064 11 2 1 0 1 1.339 20666 chr16 11782222 11782222 C T rs61741271 TXNDC11 Synonymous SNV P208P 0.014 0 0.007 3 16 0 0.008 2 0 0 0 0 14.59 20667 chr5 41929895 41929895 G A rs144096644 FBXO4 Synonymous SNV Q174Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.458 20668 chr15 91326099 91326099 C T rs2227935 BLM Nonsynonymous SNV P868L 0.047 0.026 0.065 22 55 10 0.056 19 1 0 0 2 Benign/Likely benign 34 20669 chr16 11836398 11836398 C G rs3743587 TXNDC11 Synonymous SNV P63P 0.255 0.297 0.122 114 299 114 0.292 36 64 30 13 32 5.454 20670 chr5 42718928 42718928 G T rs6182 GHR Nonsynonymous SNV C418F 0.021 0.021 0.007 1 25 8 0.003 2 0 0 0 0 Benign 0.357 20671 chr17 42449789 42449789 G A rs5910 ITGA2B Synonymous SNV V1021V 0.384 0.372 0.425 186 451 143 0.477 125 85 30 25 45 Benign 0.321 20672 chr4 183601847 183601847 T C rs2871328 TENM3 Synonymous SNV S597S 0.337 0.372 0.35 137 396 143 0.351 103 67 25 24 18 Benign 1.594 20673 chr17 42453065 42453065 A C rs5911 ITGA2B Nonsynonymous SNV I874S 0.373 0.357 0.425 184 438 137 0.472 125 85 30 25 45 Benign 16.6 20674 chr15 91354521 91354521 G A rs7167216 BLM Nonsynonymous SNV V1190I 0.048 0.029 0.065 22 56 11 0.056 19 1 0 0 2 Benign/Likely benign 0.603 20675 chr5 42719082 42719082 C T rs6176 GHR Synonymous SNV S469S 0.047 0.057 0.044 26 55 22 0.067 13 1 0 1 0 Benign 12.62 20676 chr17 42744238 42744238 A C rs9907151 MEIOC Nonsynonymous SNV N320T 0.213 0.232 0.252 93 250 89 0.238 74 27 6 7 11 0.009 20677 chr15 75189489 75189489 C T rs117089191 MPI Nonsynonymous SNV R278W 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign/Likely benign 23.7 20678 chr5 42719344 42719344 C A rs6184 GHR Nonsynonymous SNV P557T 0.021 0.021 0.007 1 25 8 0.003 2 0 0 0 0 Benign 0.899 20679 chr4 183720850 183720850 C T rs11223 TENM3 Synonymous SNV G2482G 0.139 0.159 0.099 54 163 61 0.138 29 14 3 3 4 Benign 15.51 20680 chr4 183815688 183815688 A G rs4742 DCTD Synonymous SNV V116V 0.273 0.266 0.265 109 321 102 0.279 78 45 15 12 20 8.601 20681 chr17 42851729 42851729 C T rs35936481 ADAM11 Synonymous SNV H153H 0.663 0.638 0.643 257 778 245 0.659 189 255 80 60 85 13.84 20682 chr15 82443824 82443824 C T rs78664413 EFL1 Nonsynonymous SNV A940T 0.034 0.021 0.027 13 40 8 0.033 8 1 0 0 0 23.4 20683 chr5 43245922 43245922 C T rs13176855 NIM1K Synonymous SNV H15H 0.377 0.383 0.378 134 443 147 0.344 111 82 29 17 14 10.1 20684 chr17 42852604 42852604 G T rs1558083 ADAM11 Synonymous SNV S215S 0.663 0.638 0.639 257 778 245 0.659 188 254 80 59 85 14.08 20685 chr17 42852610 42852610 T C rs1558084 ADAM11 Synonymous SNV C217C 0.911 0.924 0.949 358 1069 355 0.918 279 487 165 133 165 7.242 20686 chr5 43297144 43297144 A G rs3733769 HMGCS1 Synonymous SNV Y191Y 0.554 0.581 0.561 184 650 223 0.472 165 183 63 47 45 2.882 20687 chr15 91493754 91493754 G A UNC45A Nonsynonymous SNV V593I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 20688 chr17 42854610 42854610 T C rs8075210 ADAM11 Synonymous SNV S386S 0.661 0.633 0.639 257 776 243 0.659 188 254 80 59 85 0.134 20689 chr4 184242959 184242959 C G rs6839940 CLDN24 Nonsynonymous SNV Q207H 0.233 0.232 0.19 64 273 89 0.164 56 32 5 4 6 3.529 20690 chr5 43492978 43492978 G A rs10039298 C5orf34 Synonymous SNV N443N 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 4.776 20691 chr17 42855554 42855554 T C rs2070605 ADAM11 Synonymous SNV I540I 0.662 0.638 0.639 257 777 245 0.659 188 254 80 59 85 6.199 20692 chr5 43505993 43505993 A G rs7710628 C5orf34 Synonymous SNV N263N 0.513 0.568 0.5 190 602 218 0.487 147 140 63 35 42 0.055 20693 chr17 42925559 42925559 C T rs12164 HIGD1B Synonymous SNV D13D 0.635 0.596 0.667 250 746 229 0.641 196 235 66 64 82 9.173 20694 chr5 43509348 43509348 T A rs6872851 C5orf34 Nonsynonymous SNV T32S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.88 20695 chr17 42927721 42927721 G A rs1071682 HIGD1B Nonsynonymous SNV S86N 0.381 0.362 0.442 149 447 139 0.382 130 86 26 28 30 9.091 20696 chr16 1250389 1250389 A G rs36117280 CACNA1H Nonsynonymous SNV M313V 0.112 0.112 0.116 50 132 43 0.128 34 7 3 1 3 Benign 0.003 20697 chr5 43609343 43609343 C T rs10057103 NNT Synonymous SNV L16L 0.601 0.633 0.616 235 706 243 0.603 181 209 75 57 67 10.45 20698 chr17 42992714 42992714 C T rs2229011 GFAP Synonymous SNV P47P 0.057 0.063 0.034 19 67 24 0.049 10 1 0 0 1 Benign 11.21 20699 chr4 184426387 184426387 C T rs8872 ING2 Synonymous SNV A13A 0.762 0.74 0.718 277 895 284 0.71 211 340 110 74 98 20.9 20700 chr17 43111688 43111688 G A rs9900173 DCAKD Synonymous SNV N61N 0.376 0.362 0.395 131 441 139 0.336 116 82 28 20 18 12.12 20701 chr5 43677897 43677897 C G rs149530103 NNT Synonymous SNV G824G 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 12.64 20702 chr16 1250559 1250559 T C rs8044363 CACNA1H Synonymous SNV I369I 0.312 0.302 0.282 128 366 116 0.328 83 68 19 11 24 Benign 2.434 20703 chr17 43175906 43175906 C T rs2239922 NMT1 Synonymous SNV P290P 0.128 0.117 0.126 49 150 45 0.126 37 6 2 0 3 19.6 20704 chr5 44809162 44809162 G C rs3747479 MRPS30 Nonsynonymous SNV C33S 0.37 0.44 0.395 155 434 169 0.397 116 79 36 24 32 0.003 20705 chr16 1251803 1251803 C T rs9922076 CACNA1H Synonymous SNV S451S 0.101 0.083 0.085 42 118 32 0.108 25 6 3 0 3 Benign 13.28 20706 chr17 43216472 43216472 A G rs16939879 ACBD4 Nonsynonymous SNV Q245R 0.106 0.091 0.112 41 124 35 0.105 33 7 1 0 1 3.755 20707 chr15 90768271 90768271 C T rs11547966 SEMA4B Synonymous SNV F284F 0.212 0.24 0.245 95 249 92 0.244 72 22 8 7 8 16.66 20708 chr16 1252118 1252118 C T rs2407083 CACNA1H Synonymous SNV P556P 0.102 0.083 0.085 42 120 32 0.108 25 6 3 0 3 Benign 8.657 20709 chr15 91550232 91550232 G A rs59648701 VPS33B Synonymous SNV G189G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.19 20710 chr4 184931818 184931818 G A rs4861597 STOX2 Synonymous SNV T609T 0.32 0.323 0.333 128 376 124 0.328 98 57 17 15 22 6.072 20711 chr5 52096889 52096889 C A rs1499280 PELO Nonsynonymous SNV L221M 0.924 0.93 0.908 357 1085 357 0.915 267 499 165 120 163 9.461 20712 chr16 1252259 1252259 A G rs9934839 CACNA1H Synonymous SNV R603R 0.38 0.388 0.381 157 446 149 0.403 112 90 30 23 32 Benign 0.011 20713 chr17 43318778 43318778 G C rs7218169 FMNL1 Synonymous SNV G454G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.988 20714 chr4 185012398 185012398 T C rs4479748 ENPP6 Nonsynonymous SNV S419G 0.416 0.427 0.364 169 488 164 0.433 107 98 37 15 36 0.003 20715 chr17 43318779 43318779 C G rs7219366 FMNL1 Nonsynonymous SNV P455A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.166 20716 chr15 91803567 91803567 A G rs16945475 SV2B Synonymous SNV E201E 0.035 0.018 0.041 14 41 7 0.036 12 2 1 1 0 3.012 20717 chr15 86273831 86273831 C G rs78778821 AKAP13 Nonsynonymous SNV P1013R 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 17.11 20718 chr5 52157374 52157374 T C rs2447867 ITGA1 Synonymous SNV C92C 0.842 0.844 0.867 330 989 324 0.846 255 419 136 110 139 0.523 20719 chr5 52347369 52347369 C T rs1126643 ITGA2 Synonymous SNV F253F 0.399 0.362 0.395 133 468 139 0.341 116 91 22 22 20 Benign 19.16 20720 chr16 1260969 1260969 G A rs61910714 CACNA1H Synonymous SNV L1407L 0.129 0.143 0.126 55 152 55 0.141 37 14 5 7 5 7.599 20721 chr17 43319770 43319770 C T rs1801353 FMNL1 Synonymous SNV L650L 0.443 0.482 0.463 167 520 185 0.428 136 120 43 31 26 16.94 20722 chr15 91811749 91811749 G A rs3743444 SV2B Synonymous SNV V318V 0.09 0.102 0.102 43 106 39 0.11 30 3 3 1 1 10.01 20723 chr15 86287867 86287867 G A rs2614668 AKAP13 Nonsynonymous SNV A1422T 0.099 0.07 0.139 31 116 27 0.079 41 9 1 2 2 7.275 20724 chr17 43333125 43333125 C T rs11651968 SPATA32 Nonsynonymous SNV V142M 0.437 0.464 0.439 176 513 178 0.451 129 119 38 28 38 6.764 20725 chr5 52351413 52351413 G A rs1062535 ITGA2 Synonymous SNV T275T 0.401 0.362 0.398 133 471 139 0.341 117 91 22 22 20 Benign 14.15 20726 chr15 91825027 91825027 C T rs1117388 SV2B Synonymous SNV D370D 0.231 0.201 0.228 97 271 77 0.249 67 30 7 6 10 15.22 20727 chr5 52379277 52379277 C T rs2303122 ITGA2 Synonymous SNV F1084F 0.368 0.323 0.374 130 432 124 0.333 110 76 18 17 19 Benign 15.35 20728 chr17 4351560 4351560 G A rs12450838 SPNS3 Synonymous SNV R117R 0.281 0.258 0.248 100 330 99 0.256 73 52 9 9 17 2.859 20729 chr15 83781608 83781608 G A rs771328156 TM6SF1 Nonsynonymous SNV R51H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.1 20730 chr17 4352539 4352539 C T rs7224464 SPNS3 Synonymous SNV F133F 0.685 0.648 0.677 246 804 249 0.631 199 270 80 64 70 11.37 20731 chr5 52405681 52405681 A G LOC257396 0.003 0 0 0 3 0 0 0 0 0 0 0 10.69 20732 chr4 185687863 185687863 A G rs11727009 ACSL1 Synonymous SNV F358F 0.254 0.276 0.272 102 298 106 0.262 80 44 20 13 9 7.831 20733 chr5 52856504 52856504 G C rs2279516 NDUFS4 Synonymous SNV V4V 0.629 0.568 0.575 251 739 218 0.644 169 228 66 52 82 Benign 12.65 20734 chr17 4352636 4352636 G A rs34457931 SPNS3 Nonsynonymous SNV G166R 0.154 0.172 0.167 71 181 66 0.182 49 17 6 4 4 21 20735 chr4 186091487 186091487 G A rs6820332 CFAP97 Nonsynonymous SNV S443L 0.215 0.203 0.02 91 252 78 0.233 6 100 33 3 34 1.268 20736 chr5 52942083 52942083 A C rs31304 NDUFS4 Synonymous SNV G66G 0.955 0.951 0.983 376 1121 365 0.964 289 534 173 142 181 Benign 0.366 20737 chr16 1268485 1268485 C T rs2738891 CACNA1H Synonymous SNV G1901G 0.096 0.099 0.102 47 113 38 0.121 30 6 2 1 3 Benign 12.59 20738 chr15 92987938 92987938 C G rs2305561 ST8SIA2 Synonymous SNV P186P 0.16 0.164 0.133 56 188 63 0.144 39 22 6 2 4 12.46 20739 chr15 76019567 76019567 A T rs80215855 ODF3L1 Nonsynonymous SNV T171S 0.008 0.008 0.01 1 9 3 0.003 3 0 0 0 0 0.028 20740 chr17 4356375 4356375 G T rs11655342 SPNS3 Nonsynonymous SNV A203S 0.261 0.242 0.214 94 306 93 0.241 63 41 9 7 15 0.007 20741 chr5 52942197 52942197 A G rs31303 NDUFS4 Synonymous SNV R104R 0.758 0.729 0.745 304 890 280 0.779 219 330 103 79 118 Benign 5.668 20742 chr4 186097045 186097045 C T rs6855305 CFAP97 Synonymous SNV P405P 0.535 0.539 0.558 193 628 207 0.495 164 165 56 48 45 15.26 20743 chr5 53606295 53606295 T C rs35941 ARL15 Synonymous SNV R5R 0.853 0.844 0.806 330 1001 324 0.846 237 427 137 93 141 7.734 20744 chr15 76136768 76136768 C T rs72734531 UBE2Q2 Nonsynonymous SNV P25L 0.165 0.13 0.19 53 194 50 0.136 56 12 5 3 5 9.841 20745 chr17 4391132 4391132 C T rs2291743 SPNS3 Synonymous SNV N367N 0.306 0.339 0.299 113 359 130 0.29 88 44 26 11 17 9.694 20746 chr5 53751901 53751901 G A rs7699 HSPB3 Synonymous SNV L94L 0.598 0.638 0.636 227 702 245 0.582 187 211 84 53 62 Benign 8.187 20747 chr17 4391153 4391153 A G rs333122 SPNS3 Synonymous SNV L374L 0.306 0.339 0.299 114 359 130 0.292 88 44 26 11 17 0.084 20748 chr16 1270111 1270111 G A rs1054644 CACNA1H Nonsynonymous SNV R2054H 0.096 0.099 0.102 47 113 38 0.121 30 6 2 1 3 Benign 10.92 20749 chr17 44067382 44067382 T C rs2258689 MAPT Nonsynonymous SNV Y441H 0.194 0.185 0.245 62 228 71 0.159 72 59 16 21 17 Benign 5.875 20750 chr5 53751988 53751988 T C rs7823 HSPB3 Synonymous SNV G123G 0.618 0.659 0.646 231 726 253 0.592 190 226 88 56 65 Benign 0.008 20751 chr15 91185291 91185291 C T rs71407320 CRTC3 Synonymous SNV D592D 0.047 0.042 0.078 24 55 16 0.062 23 2 0 1 2 15.71 20752 chr15 89859994 89859994 C A rs3087374 POLG Nonsynonymous SNV Q1236H 0.077 0.094 0.078 33 90 36 0.085 23 4 2 1 4 Benign/Likely benign 21.1 20753 chr5 53814052 53814052 T C rs2548615 SNX18 Synonymous SNV P90P 0.978 0.979 0.969 384 1148 376 0.985 285 567 187 141 191 0.002 20754 chr15 77472871 77472871 G A rs10519162 PEAK1 Synonymous SNV N466N 0.06 0.044 0.071 23 70 17 0.059 21 4 1 0 0 1.826 20755 chr17 4455500 4455500 T C rs7206974 MYBBP1A Synonymous SNV A275A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.184 20756 chr4 186366181 186366181 G A rs74560263 C4orf47 Nonsynonymous SNV A134T 0.12 0.094 0.146 54 141 36 0.138 43 7 1 3 3 0.009 20757 chr5 53814394 53814394 T C rs2548614 SNX18 Synonymous SNV G204G 0.986 0.992 0.99 387 1158 381 0.992 291 572 189 144 192 0.003 20758 chr17 4463023 4463023 G A rs11657054 GGT6 Nonsynonymous SNV A58V 0.789 0.773 0.765 284 926 297 0.728 225 366 115 87 105 22.5 20759 chr5 53815066 53815066 C A rs2548613 SNX18 Synonymous SNV I428I 0.306 0.333 0.33 109 359 128 0.279 97 47 23 13 12 18.47 20760 chr17 44828931 44828931 G A rs199533 NSF Synonymous SNV K702K 0.207 0.206 0.207 70 243 79 0.179 61 28 6 5 3 13.16 20761 chr5 53815240 53815240 G C rs61739378 SNX18 Synonymous SNV S486S 0.237 0.216 0.262 109 278 83 0.279 77 28 10 8 14 4.894 20762 chr17 44950122 44950122 T C rs4968281 WNT9B Nonsynonymous SNV M106T 0.573 0.56 0.517 230 673 215 0.59 152 287 92 61 90 0.003 20763 chr15 91434373 91434373 G A FES Synonymous SNV S436S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.96 20764 chr5 53815495 53815495 A C rs2548612 SNX18 Nonsynonymous SNV E571D 0.495 0.495 0.531 180 581 190 0.462 156 142 51 35 35 0.009 20765 chr15 86312273 86312273 T A rs36031133 KLHL25 Nonsynonymous SNV M257L 0.021 0.029 0.054 7 25 11 0.018 16 3 0 0 0 0.004 20766 chr17 4497160 4497160 T C rs8080130 SMTNL2 Synonymous SNV Y258Y 0.658 0.641 0.568 233 772 246 0.597 167 253 76 53 68 0.002 20767 chr15 84651057 84651057 G A rs140206840 ADAMTSL3 Nonsynonymous SNV E893K 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 11.29 20768 chr15 88483905 88483905 G A rs55799747 NTRK3 Synonymous SNV A457A 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Benign 14.84 20769 chr17 45056301 45056301 G T rs79497126 RPRML Nonsynonymous SNV L25M 0.103 0.089 0.126 41 121 34 0.105 37 2 1 1 1 13.75 20770 chr5 54403957 54403957 T C rs3104233 GZMA Nonsynonymous SNV M121T 0.977 0.974 0.986 383 1147 374 0.982 290 560 182 143 188 0.002 20771 chr17 4510684 4510684 G A rs148037378 SMTNL2 Nonsynonymous SNV E430K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 20772 chr5 54404015 54404015 C T rs1875506 GZMA Synonymous SNV D140D 0.977 0.974 0.986 383 1147 374 0.982 290 560 182 143 188 12.2 20773 chr17 45438887 45438890 AGTG - rs10538163 EFCAB13 S269Vfs*14 0.58 0.542 0.565 225 681 208 0.577 166 194 58 45 66 20774 chr5 54404057 54404057 C G rs1051846 GZMA Synonymous SNV G154G 0.142 0.135 0.139 41 167 52 0.105 41 11 4 5 3 1.662 20775 chr15 89169703 89169703 C G rs8026929 AEN Nonsynonymous SNV S88C 0.071 0.083 0.071 22 83 32 0.056 21 2 0 1 0 22.8 20776 chr17 4574751 4574751 T A rs9436 PELP1 Nonsynonymous SNV T1126S 0.205 0.185 0.184 60 241 71 0.154 54 36 2 7 6 12.02 20777 chr5 54410120 54410120 A C rs3104230 CDC20B Nonsynonymous SNV S454A 0.976 0.974 0.986 383 1146 374 0.982 290 559 182 143 188 8.088 20778 chr16 1388672 1388672 C T rs116106398 BAIAP3 Nonsynonymous SNV T41M 0.024 0.016 0.014 3 28 6 0.008 4 0 0 0 0 23.5 20779 chr17 4575283 4575283 A G rs3862485 PELP1 Synonymous SNV P1001P 0.898 0.891 0.864 345 1054 342 0.885 254 477 152 113 153 0.004 20780 chr5 54439466 54439466 G A rs1021580 CDC20B Nonsynonymous SNV R121C 0.82 0.833 0.827 336 963 320 0.862 243 393 134 102 144 9.038 20781 chr17 4576620 4576620 C T rs55677157 PELP1 Synonymous SNV P590P 0.204 0.182 0.18 58 240 70 0.149 53 36 2 7 5 15.52 20782 chr17 45885687 45885687 A G rs9907142 OSBPL7 Synonymous SNV Y833Y 0.958 0.969 0.915 365 1125 372 0.936 269 539 180 126 172 5.031 20783 chr17 45915788 45915788 T C rs7350974 SCRN2 Nonsynonymous SNV M323V 0.991 0.997 0.99 388 1164 383 0.995 291 577 191 144 193 0.015 20784 chr15 92459258 92459258 C T rs147724901 SLCO3A1 Synonymous SNV N72N 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 9.756 20785 chr5 54459961 54459961 A G rs381852 GPX8 Nonsynonymous SNV K182R 0.826 0.826 0.864 314 970 317 0.805 254 401 127 108 127 16.61 20786 chr17 45917703 45917703 C T rs11652952 SCRN2 Synonymous SNV T70T 0.028 0.021 0.054 22 33 8 0.056 16 1 0 0 0 20.2 20787 chr17 45994044 45994044 C T rs2228253 SP2 Synonymous SNV L203L 0.473 0.469 0.449 166 555 180 0.426 132 137 41 31 40 8.027 20788 chr5 54516521 54516521 G A rs6879219 MCIDAS Synonymous SNV C277C 0.659 0.612 0.633 264 774 235 0.677 186 261 69 59 87 Benign 12.59 20789 chr17 45994094 45994094 T C rs2228251 SP2 Synonymous SNV L219L 0.474 0.469 0.449 166 556 180 0.426 132 138 41 31 40 0.02 20790 chr5 54572163 54572163 T C rs3761764 DHX29 Synonymous SNV K735K 0.135 0.133 0.061 45 159 51 0.115 18 11 3 2 4 7.073 20791 chr17 45994154 45994154 G A rs2229358 SP2 Synonymous SNV P239P 0.465 0.464 0.442 161 546 178 0.413 130 133 40 30 38 5.681 20792 chr16 14041958 14041958 T C rs1799801 ERCC4 Synonymous SNV S835S 0.351 0.313 0.289 149 412 120 0.382 85 66 11 8 26 Benign 3.403 20793 chr17 46002744 46002744 G T rs1130932 SP2 Synonymous SNV V526V 0.464 0.464 0.442 160 545 178 0.41 130 132 40 30 37 12.89 20794 chr5 54674296 54674296 A G rs10471413 MTREX Synonymous SNV Q655Q 0.133 0.133 0.116 44 156 51 0.113 34 10 3 3 4 12.86 20795 chr15 90188392 90188392 A T rs72750755 KIF7 Synonymous SNV V681V 0.045 0.044 0.058 29 53 17 0.074 17 0 1 1 2 Benign/Likely benign 0.032 20796 chr16 14042108 14042108 G A rs16963255 ERCC4 Synonymous SNV T885T 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 Benign 10.16 20797 chr17 46059071 46059071 T C rs2737 CDK5RAP3 Nonsynonymous SNV S308P 0.174 0.161 0.16 67 204 62 0.172 47 20 9 2 7 6.116 20798 chr15 89398407 89398407 C T rs3743398 ACAN Nonsynonymous SNV P864L 0.164 0.167 0.184 77 192 64 0.197 54 11 4 1 11 26.3 20799 chr5 54830295 54830295 T G rs2292280 RNF138P1 0.818 0.799 0.816 333 960 307 0.854 240 415 134 102 148 0.531 20800 chr17 46136133 46136133 G C rs2229369 NFE2L1 Synonymous SNV S453S 0.119 0.151 0.116 42 140 58 0.108 34 6 5 4 2 4.098 20801 chr5 54960609 54960609 A G rs4865614 SLC38A9 Synonymous SNV L140L 0.703 0.661 0.656 280 825 254 0.718 193 295 81 62 105 0.458 20802 chr17 4622638 4622638 C T rs1045280 ARRB2 Synonymous SNV S88S 0.676 0.703 0.636 274 794 270 0.703 187 276 94 62 93 15.32 20803 chr17 4638484 4638484 T C rs1876444 CXCL16 Synonymous SNV P226P 0.582 0.602 0.599 216 683 231 0.554 176 203 64 52 54 0.022 20804 chr5 54960673 54960673 C G rs4865615 SLC38A9 Nonsynonymous SNV S119T 0.68 0.628 0.656 276 798 241 0.708 193 295 81 62 105 0.012 20805 chr17 4638563 4638563 G A rs2277680 CXCL16 Nonsynonymous SNV A200V 0.46 0.482 0.456 184 540 185 0.472 134 123 43 27 39 0.051 20806 chr5 54960687 54960687 C T rs4865616 SLC38A9 Synonymous SNV S114S 0.658 0.599 0.653 262 773 230 0.672 192 295 81 62 103 10.94 20807 chr15 78882756 78882756 T C rs372560481 CHRNA5 Synonymous SNV S341S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 20808 chr17 4638737 4638737 A G rs1050998 CXCL16 Nonsynonymous SNV I142T 0.46 0.482 0.456 182 540 185 0.467 134 124 43 27 37 0.001 20809 chr5 55155402 55155402 C T rs1009639 IL31RA Synonymous SNV P24P 0.769 0.766 0.738 293 903 294 0.751 217 354 109 77 111 4.267 20810 chr5 55204187 55204187 T G rs9632389 IL31RA Synonymous SNV G464G 0.151 0.164 0.177 58 177 63 0.149 52 20 7 4 3 8.006 20811 chr17 4641755 4641755 C T rs1050997 CXCL16 Synonymous SNV G102G 0.753 0.768 0.718 286 884 295 0.733 211 334 108 73 103 12.06 20812 chr16 1484528 1484528 G A rs61744665 CCDC154 Nonsynonymous SNV R629C 0.048 0.036 0.082 21 56 14 0.054 24 0 0 3 1 24.9 20813 chr5 55206444 55206444 G A rs161704 IL31RA Nonsynonymous SNV S510N 0.302 0.273 0.272 140 354 105 0.359 80 57 14 12 29 11.88 20814 chr17 4645324 4645324 T C rs3826517 ZMYND15 Synonymous SNV H314H 0.497 0.521 0.503 190 584 200 0.487 148 149 55 32 42 0.007 20815 chr4 187086562 187086562 C A rs61155675 FAM149A Nonsynonymous SNV L370I 0.037 0.049 0.031 23 43 19 0.059 9 1 1 0 1 4.604 20816 chr15 85401680 85401680 C T rs35931910 ALPK3 Synonymous SNV D1237D 0.058 0.044 0.071 20 68 17 0.051 21 4 0 0 0 Benign 4.792 20817 chr17 465775 465775 G A rs2075443 VPS53 Synonymous SNV Y479Y 0.267 0.281 0.245 114 314 108 0.292 72 40 17 8 17 Benign 5.824 20818 chr16 1484791 1484791 C T rs7192233 CCDC154 Synonymous SNV P585P 0.055 0.055 0.082 23 64 21 0.059 24 1 0 3 2 9.714 20819 chr17 46607021 46607021 T C rs7226137 HOXB1 Nonsynonymous SNV E265G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.22 20820 chr5 55406952 55406952 T C rs321775 ANKRD55 Synonymous SNV P541P 0.315 0.292 0.255 126 370 112 0.323 75 63 15 5 23 0.005 20821 chr16 1488646 1488646 A G rs8054054 CCDC154 Synonymous SNV R333R 0.494 0.438 0.48 175 580 168 0.449 141 136 40 33 40 0.004 20822 chr5 55407542 55407542 C T rs321776 ANKRD55 Nonsynonymous SNV V345M 0.311 0.292 0.245 122 365 112 0.313 72 63 15 5 21 0.002 20823 chr17 46629593 46629593 G T rs2229304 HOXB3 Nonsynonymous SNV P82T 0.718 0.688 0.65 286 843 264 0.733 191 312 93 64 108 0.983 20824 chr5 55831021 55831021 A G rs13178412 C5orf67 0.158 0.143 0.139 68 186 55 0.174 41 19 4 4 4 0.004 20825 chr17 46688135 46688135 G A rs79247310 HOXB7 Nonsynonymous SNV A49V 0.071 0.049 0.061 33 83 19 0.085 18 4 0 1 0 23.9 20826 chr16 1524850 1524850 A G rs3751884 CLCN7 Synonymous SNV P42P 0.478 0.443 0.469 204 561 170 0.523 138 140 46 31 62 Benign 0.086 20827 chr15 85467275 85467275 C T rs3803390 SLC28A1 Synonymous SNV H339H 0.036 0.039 0.051 9 42 15 0.023 15 2 0 0 1 10.2 20828 chr5 55831030 55831030 C G rs745900291 C5orf67 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.09 20829 chr17 46688256 46688256 T C rs7406910 HOXB7 Nonsynonymous SNV T9A 0.894 0.891 0.918 360 1050 342 0.923 270 469 154 123 166 8.434 20830 chr5 56111751 56111751 G C rs28710284 MAP3K1 Synonymous SNV A117A 0.651 0.589 0.323 245 764 226 0.628 95 351 104 44 111 Benign 11.88 20831 chr4 187158034 187158034 G A rs3733402 KLKB1 Nonsynonymous SNV S143N 0.489 0.435 0.473 186 574 167 0.477 139 130 41 30 48 Conflicting interpretations of pathogenicity 0.065 20832 chr16 10525230 10525230 T C rs34404959 ATF7IP2 Synonymous SNV T251T 0.099 0.094 0.136 35 116 36 0.09 40 9 2 3 1 0.003 20833 chr5 56161787 56161787 G A rs832575 MAP3K1 Synonymous SNV T428T 0.875 0.875 0.816 330 1027 336 0.846 240 447 146 101 138 Benign 13.85 20834 chr17 46802008 46802008 C G rs2271891 PRAC2 Nonsynonymous SNV T79R 0.484 0.466 0.544 184 568 179 0.472 160 130 37 45 39 Benign 0.734 20835 chr17 4684095 4684095 G A rs13520 TM4SF5 Synonymous SNV P63P 0.566 0.542 0.602 231 665 208 0.592 177 187 51 54 66 2.161 20836 chr5 56177443 56177443 G A rs702689 MAP3K1 Nonsynonymous SNV D806N 0.75 0.742 0.612 283 881 285 0.726 180 328 106 54 100 Benign 18.36 20837 chr17 46847364 46847364 C A rs2032844 TTLL6 Nonsynonymous SNV E405D 0.244 0.25 0.33 99 287 96 0.254 97 32 12 15 11 22.8 20838 chr16 1537451 1537451 C G rs28473314 PTX4 Nonsynonymous SNV G216A 0.07 0.078 0.044 28 82 30 0.072 13 6 2 1 1 0.002 20839 chr16 10841072 10841072 T C rs952576572 NUBP1 Nonsynonymous SNV V66A 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 25.8 20840 chr15 90342508 90342508 G A rs145177590 ANPEP Synonymous SNV D664D 0.01 0.01 0.007 6 12 4 0.015 2 0 0 0 0 3.064 20841 chr15 85658680 85658680 G A rs147442036 PDE8A Nonsynonymous SNV R408Q 0.011 0.01 0 6 13 4 0.015 0 0 0 0 0 24.3 20842 chr5 56177743 56177743 G A rs832582 MAP3K1 Nonsynonymous SNV V906I 0.836 0.818 0.755 314 982 314 0.805 222 409 127 87 125 Benign 0.001 20843 chr17 4686414 4686414 A C rs3851 TM4SF5 Synonymous SNV T195T 0.463 0.471 0.527 199 544 181 0.51 155 124 40 42 55 0.001 20844 chr16 1537455 1537455 T C rs2667673 PTX4 Nonsynonymous SNV R215G 0.273 0.258 0.299 114 320 99 0.292 88 68 17 17 27 0.001 20845 chr17 46882287 46882303 CTTTCCAAAGTCGGGCA - rs533233446 TTLL6 C52Pfs*62 0.033 0.023 0.014 14 39 9 0.036 4 0 0 0 0 20846 chr17 4689195 4689195 C - rs3215170 VMO1 0.484 0.492 0.537 211 568 189 0.541 158 134 45 44 59 20847 chr5 56177843 56177843 C G rs45556841 MAP3K1 Nonsynonymous SNV S939C 0.032 0.042 0.024 12 37 16 0.031 7 0 1 0 0 Benign 22.2 20848 chr17 46894377 46894377 A C rs3959442 TTLL6 Nonsynonymous SNV W20G 0.29 0.286 0.34 114 340 110 0.292 100 51 14 19 15 0.002 20849 chr5 56177849 56177851 CAA - rs10552703 MAP3K1 T949del 0.834 0.813 0.748 313 979 312 0.803 220 407 126 86 124 20850 chr17 4689572 4689572 T C rs4790706 VMO1 Nonsynonymous SNV T26A 0.543 0.552 0.585 222 638 212 0.569 172 164 58 54 64 0.001 20851 chr16 11001743 11001743 G A rs2229320 CIITA Synonymous SNV P798P 0.181 0.206 0.241 61 213 79 0.156 71 21 7 9 10 Benign 0.92 20852 chr5 56178217 56178217 A C rs832583 MAP3K1 Synonymous SNV R1064R 0.837 0.82 0.755 314 983 315 0.805 222 410 128 87 125 Benign 0.024 20853 chr17 4693170 4693170 T C rs34850425 GLTPD2 Nonsynonymous SNV V152A 0.997 1 0.99 387 1170 384 0.992 291 585 192 145 193 0.002 20854 chr5 56207123 56207123 T A rs2257505 SETD9 Nonsynonymous SNV S76T 0.813 0.797 0.639 308 955 306 0.79 188 383 123 60 119 0.873 20855 chr17 4693342 4693342 C A rs35910358 GLTPD2 Nonsynonymous SNV D209E 0.998 0.992 0.983 389 1172 381 0.997 289 585 189 144 194 9.983 20856 chr4 187541131 187541131 G A rs35389971 FAT1 Synonymous SNV H2203H 0.044 0.039 0.031 19 52 15 0.049 9 1 0 1 0 0.044 20857 chr5 56209735 56209735 A G rs40497 SETD9 Nonsynonymous SNV K209E 0.35 0.359 0.245 150 411 138 0.385 72 68 25 9 20 9.089 20858 chr17 4693508 4693508 G C rs34421346 GLTPD2 Nonsynonymous SNV V265L 0.998 0.992 0.895 389 1172 381 0.997 263 585 189 131 194 8.798 20859 chr5 56526783 56526783 G A rs1130203 GPBP1 Synonymous SNV G65G 0.672 0.747 0.718 259 789 287 0.664 211 255 106 78 86 8.714 20860 chr17 46939658 46939658 C G rs10278 CALCOCO2 Nonsynonymous SNV P347A 0.299 0.297 0.381 124 351 114 0.318 112 56 16 26 16 8.209 20861 chr16 1129501 1129501 C T rs34037914 SSTR5 Synonymous SNV F211F 0.048 0.034 0.037 24 56 13 0.062 11 2 0 0 1 0.509 20862 chr5 56557055 56557055 A G rs530269059 GPBP1 Synonymous SNV T410T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.048 20863 chr4 187628054 187628054 C G rs114279527 FAT1 Synonymous SNV V976V 0.043 0.039 0.054 21 51 15 0.054 16 0 1 0 4 1.728 20864 chr5 57755703 57755703 C T rs3211270 PLK2 Synonymous SNV A28A 0.411 0.427 0.378 155 482 164 0.397 111 98 33 22 22 16.48 20865 chr17 4699552 4699552 G A rs3169950 PSMB6 Synonymous SNV A21A 0.411 0.419 0.456 169 483 161 0.433 134 100 34 34 41 14.55 20866 chr5 60200665 60200665 A G rs4647100 ERCC8 Synonymous SNV Y145Y 0.166 0.182 0.214 87 195 70 0.223 63 26 9 6 15 Benign 5.295 20867 chr16 11362729 11362729 G A rs11640138 TNP2 Nonsynonymous SNV R131W 0.461 0.443 0.384 173 541 170 0.444 113 116 42 25 43 25.8 20868 chr17 47007963 47007963 C T rs2270576 SNF8 Synonymous SNV L200L 0.261 0.263 0.357 112 306 101 0.287 105 41 12 22 15 13.74 20869 chr15 81221492 81221492 C T rs35092028 CEMIP Synonymous SNV S863S 0.043 0.047 0.041 15 51 18 0.038 12 5 0 0 0 Likely benign 9.204 20870 chr5 60241142 60241142 G A rs158921 NDUFAF2 Synonymous SNV K20K 0.644 0.604 0.595 231 756 232 0.592 175 247 72 48 68 Benign 14.98 20871 chr17 4701019 4701019 C T rs2304975 PSMB6 Synonymous SNV S115S 0.065 0.078 0.071 23 76 30 0.059 21 1 2 0 1 14.19 20872 chr17 4712617 4712617 C T rs2286672 PLD2 Nonsynonymous SNV R172C 0.071 0.073 0.065 22 83 28 0.056 19 1 2 1 0 23.3 20873 chr5 60628411 60628411 G T rs75429795 ZSWIM6 Synonymous SNV P104P 0.135 0.146 0.068 64 159 56 0.164 20 13 3 0 2 3.822 20874 chr16 10637458 10637458 C T rs150309316 EMP2 Synonymous SNV T46T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 11.41 20875 chr16 1559838 1559838 T C rs3180228 TELO2 Synonymous SNV A805A 0.277 0.299 0.327 93 325 115 0.238 96 49 19 21 10 0.157 20876 chr5 60628414 60628414 G T rs111274143 ZSWIM6 Synonymous SNV V105V 0.135 0.146 0.068 64 159 56 0.164 20 13 3 0 2 0.153 20877 chr17 4718776 4718776 G A rs1132448 PLD2 Synonymous SNV E393E 0.716 0.695 0.711 268 840 267 0.687 209 300 98 78 97 11.1 20878 chr5 60982841 60982841 G A rs16893687 C5orf64 0.319 0.31 0.333 134 374 119 0.344 98 59 20 16 22 5.095 20879 chr16 15680642 15680642 C T rs2071332 BMERB1 Synonymous SNV L174L 0.193 0.214 0.218 80 226 82 0.205 64 25 9 8 9 13.61 20880 chr17 4720469 4720469 C T rs1052748 PLD2 Nonsynonymous SNV T577I 0.428 0.445 0.459 174 503 171 0.446 135 110 44 37 45 0.002 20881 chr16 11367195 11367195 G C rs35598356 PRM3 Nonsynonymous SNV H86Q 0.233 0.229 0.17 94 273 88 0.241 50 28 13 7 9 0.001 20882 chr16 1569929 1569929 C G rs35823417 IFT140 Nonsynonymous SNV Q1331H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.63 20883 chr5 61694379 61694379 T C rs247264 DIMT1 Synonymous SNV S135S 0.536 0.477 0.469 222 629 183 0.569 138 165 42 32 67 1.669 20884 chr17 47210429 47210429 A G rs7207842 B4GALNT2 Synonymous SNV E14E 0.847 0.854 0.793 326 994 328 0.836 233 429 139 104 137 2.396 20885 chr4 187629896 187629896 G A rs11722204 FAT1 Synonymous SNV A362A 0.046 0.042 0.051 17 54 16 0.044 15 3 0 0 0 9.836 20886 chr16 11369930 11369930 C G rs1646022 PRM2 Nonsynonymous SNV A100P 0.379 0.378 0.32 174 445 145 0.446 94 77 27 15 42 2.598 20887 chr5 61772535 61772535 G T rs26635 IPO11 Synonymous SNV V301V 0.433 0.471 0.452 152 508 181 0.39 133 107 41 38 34 11.44 20888 chr16 1574863 1574863 G A rs2235640 IFT140 Synonymous SNV A973A 0.232 0.247 0.224 74 272 95 0.19 66 31 11 9 7 Benign 8.034 20889 chr17 47241604 47241604 T C rs8074457 B4GALNT2 Synonymous SNV N307N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.004 20890 chr4 187630597 187630597 C G rs41278611 FAT1 Nonsynonymous SNV V129L 0.046 0.042 0.054 23 54 16 0.059 16 0 1 0 4 0.001 20891 chr17 47297297 47297297 T C rs616338 ABI3 Nonsynonymous SNV F203S 0.987 0.99 0.997 387 1159 380 0.992 293 573 188 146 192 13.51 20892 chr5 61874620 61874620 A - rs747901547 IPO11-LRRC70 0.18 0.195 0.374 76 211 75 0.195 110 0 0 0 0 20893 chr16 11647492 11647492 T C rs4280262 LITAF Nonsynonymous SNV I92V 0.234 0.227 0.173 88 275 87 0.226 51 36 9 4 10 Benign 0.002 20894 chr5 63905068 63905068 A G rs889248 RGS7BP Nonsynonymous SNV I122V 0.883 0.909 0.915 333 1037 349 0.854 269 457 159 124 141 2.739 20895 chr17 47329705 47329705 T C rs596783 FLJ40194 0 0 0.235 0 0 0 0 69 0 0 7 0 4.633 20896 chr17 47588000 47588000 C T rs11466155 NGFR Synonymous SNV G265G 0.313 0.276 0.282 98 367 106 0.251 83 54 14 9 12 16.71 20897 chr16 1584446 1584446 G C rs1057612 TMEM204 Nonsynonymous SNV G57A 0.073 0.076 0.082 38 86 29 0.097 24 3 1 3 1 0.002 20898 chr5 64267595 64267595 T C rs2278351 CWC27 Synonymous SNV L370L 0.221 0.234 0.282 86 260 90 0.221 83 38 13 10 12 5.737 20899 chr17 47888852 47888852 A G rs4462645 KAT7 Synonymous SNV R87R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.345 20900 chr5 64881936 64881936 A G rs27141 PPWD1 Synonymous SNV P419P 0.665 0.646 0.646 241 781 248 0.618 190 265 81 63 74 2.443 20901 chr17 4796274 4796274 T C rs11556634 MINK1 Nonsynonymous SNV V734A 0.474 0.393 0.456 183 556 151 0.469 134 138 29 36 42 10.5 20902 chr5 161943 161943 C T rs201315763 PLEKHG4B Nonsynonymous SNV R845C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.01 20903 chr16 1591962 1591962 G A rs2076443 TMEM204 Synonymous SNV T107T 0.235 0.263 0.235 72 276 101 0.185 69 27 11 9 5 11.01 20904 chr5 65118738 65118738 C T rs6860508 NLN Nonsynonymous SNV P704S 0.056 0.078 0.024 32 66 30 0.082 7 2 2 0 0 21.3 20905 chr15 86182670 86182670 G A rs16942564 AKAP13 Synonymous SNV K49K 0.041 0.044 0.037 20 48 17 0.051 11 1 1 0 0 13.06 20906 chr17 48174908 48174908 C T rs9839 PDK2 Synonymous SNV S16S 0.292 0.318 0.279 104 343 122 0.267 82 50 19 16 13 15.7 20907 chr15 86286787 86286787 C T rs61734378 AKAP13 Nonsynonymous SNV P1329L 0.043 0.047 0.048 22 50 18 0.056 14 1 1 1 1 18.98 20908 chr16 1608082 1608082 A G rs2076436 IFT140 Synonymous SNV P751P 0.244 0.276 0.276 70 286 106 0.179 81 32 15 10 6 Benign 0.808 20909 chr16 11056378 11056378 C T rs16957839 CLEC16A Synonymous SNV Y92Y 0.16 0.19 0.126 63 188 73 0.162 37 16 9 2 5 7.959 20910 chr17 48249450 48249450 C G rs2696293 HILS1 0 0 0.81 0 0 0 0 238 0 0 97 0 7.637 20911 chr5 65317181 65317181 C T rs706679 ERBIN Synonymous SNV L189L 0.827 0.807 0.857 332 971 310 0.851 252 399 123 109 143 15.91 20912 chr17 48249621 48249621 G C rs28625650 HILS1 0 0 0.031 0 0 0 0 9 0 0 0 0 7.738 20913 chr5 65350374 65350374 A G rs36303 ERBIN Synonymous SNV R1076R 0.16 0.164 0.105 54 188 63 0.138 31 11 4 1 5 1.557 20914 chr17 48249801 48249801 C A rs2696292 HILS1 0 0 0.112 0 0 0 0 33 0 0 1 0 3.348 20915 chr17 48263201 48263201 T A COL1A1 Nonsynonymous SNV I1396F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 20916 chr15 86790997 86790997 G A rs149477284 AGBL1 Nonsynonymous SNV V208M 0.007 0.016 0.003 7 8 6 0.018 1 0 0 0 0 0.652 20917 chr15 91827271 91827271 A G rs117361551 SV2B Nonsynonymous SNV I399V 0.032 0.039 0.034 17 38 15 0.044 10 0 1 0 1 12.63 20918 chr5 65892594 65892594 C T rs73102407 MAST4 Synonymous SNV S37S 0.064 0.06 0.061 23 75 23 0.059 18 5 1 0 0 18.59 20919 chr15 90209073 90209073 C A rs766044739 PLIN1 Nonsynonymous SNV G437V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 20920 chr16 1614097 1614097 A G rs8048410 IFT140 Synonymous SNV S656S 0.36 0.37 0.337 132 423 142 0.338 99 71 22 20 19 Benign 0.112 20921 chr17 48265495 48265495 T C rs1800215 COL1A1 Nonsynonymous SNV T1075A 0.995 0.997 0.98 384 1168 383 0.985 288 581 191 141 189 Benign 4.591 20922 chr5 66459878 66459878 G C rs1705399 MAST4 Nonsynonymous SNV R1363P 0.982 0.995 0.969 381 1153 382 0.977 285 567 190 138 186 8.045 20923 chr16 16162039 16162039 C T rs8187858 ABCC1 Synonymous SNV Y568Y 0.106 0.122 0.085 41 125 47 0.105 25 9 2 1 2 10.17 20924 chr17 48268223 48268223 A G rs2734272 COL1A1 Synonymous SNV T766T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 9.249 20925 chr5 66480004 66480004 T C rs1697144 CD180 Nonsynonymous SNV I223V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 20926 chr17 48437456 48437456 C G rs6504649 XYLT2 Nonsynonymous SNV T801R 0.414 0.414 0.367 170 486 159 0.436 108 103 36 20 37 Benign 6.177 20927 chr5 66492412 66492412 C G rs5744463 CD180 Nonsynonymous SNV V20L 0.109 0.117 0.099 44 128 45 0.113 29 6 4 1 4 14.15 20928 chr17 48452776 48452776 A C rs3760413 EME1 Nonsynonymous SNV E69D 0.888 0.904 0.898 346 1042 347 0.887 264 459 158 118 154 0.001 20929 chr5 67589188 67589188 C T rs3730090 PIK3R1 Synonymous SNV F29F 0.036 0.026 0.041 12 42 10 0.031 12 0 0 1 0 Benign/Likely benign 15.46 20930 chr16 11439496 11439496 G A rs11545336 RMI2 Synonymous SNV A56A 0.07 0.091 0.136 24 82 35 0.062 40 15 9 5 5 15.96 20931 chr17 48545596 48545596 G A rs34864120 CHAD Synonymous SNV D193D 0.311 0.323 0.286 143 365 124 0.367 84 54 20 11 22 8.662 20932 chr5 68417643 68417643 C T rs164578 SLC30A5 Synonymous SNV H564H 0.491 0.503 0.524 179 577 193 0.459 154 149 45 31 39 11.74 20933 chr16 11444572 11444572 A C rs7204628 RMI2 Synonymous SNV T123T 0.187 0.18 0.18 55 219 69 0.141 53 18 10 5 5 0.131 20934 chr17 48549791 48549791 C G rs2305998 ACSF2 Synonymous SNV A282A 0.307 0.318 0.282 139 360 122 0.356 83 54 20 11 21 10.08 20935 chr5 68419054 68419054 A T rs164572 SLC30A5 Synonymous SNV T600T 0.489 0.495 0.524 178 574 190 0.456 154 148 44 31 39 0.047 20936 chr17 48557326 48557326 G A rs2290862 RSAD1 Nonsynonymous SNV A119T 0.709 0.724 0.721 265 832 278 0.679 212 300 103 79 88 8.627 20937 chr5 68531253 68531253 C T rs2972388 CDK7 Nonsynonymous SNV T22I 0.491 0.516 0.561 198 577 198 0.508 165 140 47 53 53 12.78 20938 chr16 1252441 1252441 T C rs4984636 CACNA1H Nonsynonymous SNV V664A 0.191 0.193 0.167 74 224 74 0.19 49 24 6 6 6 Benign 23.1 20939 chr5 434722 434722 G C rs34453673 AHRR Nonsynonymous SNV D627H 0.263 0.271 0.282 99 309 104 0.254 83 33 10 12 14 4.501 20940 chr5 68616331 68616331 C T rs10471774 CCDC125 Nonsynonymous SNV V13M 0.506 0.497 0.439 190 594 191 0.487 129 143 41 34 47 23 20941 chr17 48557348 48557348 T C rs2290861 RSAD1 Nonsynonymous SNV L126S 0.709 0.724 0.721 265 832 278 0.679 212 300 103 79 88 18.49 20942 chr5 68695940 68695940 T G rs1045051 RAD17 Nonsynonymous SNV L557R 0.216 0.247 0.116 92 253 95 0.236 34 34 12 11 12 29.8 20943 chr17 4856376 4856376 A G rs238238 ENO3 Nonsynonymous SNV N71S 0.729 0.779 0.765 274 856 299 0.703 225 315 116 87 97 Benign 13.24 20944 chr16 1634385 1634385 C T rs34762152 IFT140 Nonsynonymous SNV V398I 0.076 0.073 0.085 39 89 28 0.1 25 3 1 3 1 Likely benign 0.004 20945 chr17 4856580 4856580 T C rs238239 ENO3 Nonsynonymous SNV V85A 0.52 0.589 0.503 198 611 226 0.508 148 164 63 40 46 Benign 22.6 20946 chr5 68715310 68715310 C T rs1185246 MARVELD2 Nonsynonymous SNV T33I 0.445 0.419 0.486 165 522 161 0.423 143 109 28 39 30 Benign 9.763 20947 chr17 48595017 48595017 C T rs61749931 MYCBPAP Synonymous SNV L157L 0.032 0.026 0.031 14 37 10 0.036 9 2 0 1 1 15.98 20948 chr17 48595988 48595988 G C rs8064455 MYCBPAP Nonsynonymous SNV E200D 0.159 0.138 0.136 70 187 53 0.179 40 12 4 4 9 14.16 20949 chr5 476353 476353 C T rs2230437 SLC9A3 Synonymous SNV A668A 0.31 0.294 0.303 115 364 113 0.295 89 52 14 13 18 11.16 20950 chr5 70308251 70308251 C T rs28409706 NAIP Synonymous SNV A164A 0.638 0.648 0.684 252 749 249 0.646 201 240 88 66 82 14.72 20951 chr16 1682281 1682281 A G rs3169425 CRAMP1 Synonymous SNV A203A 0.221 0.24 0.241 83 259 92 0.213 71 22 12 11 8 0.907 20952 chr16 11981487 11981487 G A rs3752426 GSPT1 Synonymous SNV G298G 0.243 0.273 0.252 133 285 105 0.341 74 37 12 9 18 11.71 20953 chr15 93588309 93588309 C G rs62021480 RGMA Synonymous SNV A408A 0.052 0.047 0.054 19 61 18 0.049 16 0 1 1 0 8.575 20954 chr5 70751818 70751818 T G rs3748043 BDP1 Nonsynonymous SNV D38E 0.81 0.823 0.816 322 951 316 0.826 240 386 135 95 131 Benign 1.721 20955 chr17 48598785 48598785 G A rs1380657 MYCBPAP Nonsynonymous SNV A396T 0.717 0.729 0.755 289 842 280 0.741 222 304 105 86 108 0.05 20956 chr15 90320105 90320105 G T rs374604155 MESP2 Nonsynonymous SNV A173S 0.008 0.005 0 0 9 2 0 0 0 0 0 0 9.513 20957 chr16 17202801 17202801 G A rs34511974 XYLT1 Synonymous SNV P877P 0.198 0.172 0.201 102 232 66 0.262 59 19 6 8 18 10.96 20958 chr5 70798541 70798541 A G rs36009281 BDP1 Nonsynonymous SNV K722E 0.077 0.102 0.065 20 90 39 0.051 19 4 0 2 0 Benign 22.2 20959 chr16 17228368 17228368 G A rs12708815 XYLT1 Synonymous SNV A663A 0.664 0.716 0.65 289 779 275 0.741 191 261 100 61 100 14.51 20960 chr17 48606537 48606537 C G rs1133818 MYCBPAP Nonsynonymous SNV S920R 0.717 0.729 0.752 293 842 280 0.751 221 304 105 86 111 13.8 20961 chr5 482186 482186 C G rs9885312 SLC9A3 Synonymous SNV G472G 0.836 0.81 0.612 335 982 311 0.859 180 440 137 83 147 3.424 20962 chr5 483564 483564 A G rs56098739 SLC9A3 Synonymous SNV Y322Y 0.189 0.193 0.177 72 222 74 0.185 52 14 5 5 6 0.006 20963 chr5 70800538 70800538 G A rs3761967 BDP1 Nonsynonymous SNV V778M 0.447 0.464 0.442 182 525 178 0.467 130 122 45 31 45 Benign 0.169 20964 chr17 48608717 48608717 T C rs1064055 MYCBPAP Synonymous SNV T934T 0.718 0.729 0.755 288 843 280 0.738 222 304 105 86 108 0.061 20965 chr16 1797050 1797050 C T rs2294613 MAPK8IP3 Synonymous SNV S255S 0.097 0.086 0.116 50 114 33 0.128 34 6 2 2 4 14.49 20966 chr5 491906 491906 G A rs6870920 SLC9A3 Synonymous SNV G164G 0.007 0.01 0.01 3 8 4 0.008 3 0 0 0 0 6.487 20967 chr17 48616271 48616271 C T rs72835715 EPN3 Synonymous SNV D236D 0.025 0.021 0.02 5 29 8 0.013 6 0 0 0 0 14.84 20968 chr17 48629458 48629458 A G rs8065903 SPATA20 Nonsynonymous SNV K609R 0.732 0.742 0.762 297 859 285 0.762 224 315 107 86 114 13.31 20969 chr5 640704 640704 C T rs62001010 CEP72 Synonymous SNV H508H 0.003 0.01 0.007 1 3 4 0.003 2 0 0 0 0 7.262 20970 chr5 70806457 70806457 G A rs715748 BDP1 Nonsynonymous SNV G1180S 0.446 0.466 0.452 182 524 179 0.467 133 121 45 31 45 Benign 1.594 20971 chr16 12061626 12061626 G A rs2017662 TNFRSF17 Synonymous SNV T159T 0.061 0.065 0.058 25 72 25 0.064 17 1 0 2 2 13.95 20972 chr16 12061674 12061674 G A rs2071336 TNFRSF17 Synonymous SNV T175T 0.038 0.039 0.024 12 45 15 0.031 7 1 0 0 0 13.5 20973 chr17 48653354 48653354 C A rs12449998 CACNA1G Synonymous SNV R531R 0.453 0.435 0.452 181 532 167 0.464 133 127 32 28 39 Benign 16.34 20974 chr5 70806649 70806649 T A rs1961760 BDP1 Nonsynonymous SNV F1244I 0.447 0.466 0.439 182 525 179 0.467 129 122 45 31 45 Benign 0.013 20975 chr17 48703986 48703986 G A rs9893223 CACNA1G Synonymous SNV P2209P 0.062 0.057 0.095 23 73 22 0.059 28 4 1 0 1 3.393 20976 chr17 4875628 4875628 A G rs16942615 CAMTA2 Nonsynonymous SNV S905P 0.127 0.115 0.18 46 149 44 0.118 53 9 3 4 5 6.465 20977 chr5 70806711 70806711 C G rs715747 BDP1 Nonsynonymous SNV I1264M 0.807 0.823 0.81 322 948 316 0.826 238 385 135 95 131 Benign 0.551 20978 chr17 4883818 4883818 C G rs238234 CAMTA2 Nonsynonymous SNV A269P 0.808 0.852 0.806 308 949 327 0.79 237 379 139 103 122 0.001 20979 chr5 70806958 70806958 G A rs6886336 BDP1 Nonsynonymous SNV V1347M 0.81 0.828 0.816 324 951 318 0.831 240 387 136 95 133 Benign 0.003 20980 chr15 89400023 89400023 A G rs12899191 ACAN Nonsynonymous SNV T1403A 0.118 0.104 0.02 56 139 40 0.144 6 23 6 0 13 0.003 20981 chr16 1838836 1838836 C G rs1065656 NUBP2 Nonsynonymous SNV P164R 0.71 0.682 0.738 289 833 262 0.741 217 298 88 80 107 1.638 20982 chr5 1063998 1063998 G A rs7722287 SLC12A7 Synonymous SNV Y900Y 0.392 0.419 0.378 171 460 161 0.438 111 94 32 20 30 3.196 20983 chr17 48917333 48917333 C T rs9675120 WFIKKN2 Synonymous SNV S135S 0.668 0.661 0.622 260 784 254 0.667 183 262 86 61 82 9.646 20984 chr17 48940422 48940422 T C rs4626 TOB1 Synonymous SNV K180K 0.693 0.677 0.684 267 814 260 0.685 201 287 93 72 87 0.064 20985 chr5 70809169 70809169 A G rs1698063 BDP1 Nonsynonymous SNV K1469E 0.422 0.448 0.231 170 496 172 0.436 68 110 44 18 38 Benign 4.872 20986 chr16 1841033 1841033 G A rs17559 IGFALS Synonymous SNV Y500Y 0.084 0.073 0.116 45 99 28 0.115 34 1 1 3 4 Benign 0.016 20987 chr17 49350802 49350802 A C rs2318789 UTP18 Synonymous SNV G234G 0.536 0.513 0.459 217 629 197 0.556 135 175 48 33 56 6.021 20988 chr17 4936898 4936898 C T rs2304445 SLC52A1 Nonsynonymous SNV V296M 0.181 0.138 0.129 72 212 53 0.185 38 13 3 1 7 23.9 20989 chr5 1081702 1081702 A G rs6865765 SLC12A7 Synonymous SNV P429P 0.407 0.49 0.425 186 478 188 0.477 125 90 51 26 42 0.277 20990 chr16 1877494 1877494 T C rs3743854 FAHD1 Synonymous SNV A88A 0.167 0.193 0.129 55 196 74 0.141 38 13 5 2 3 0.112 20991 chr5 70837295 70837295 A C rs6453014 BDP1 Nonsynonymous SNV I2013L 0.808 0.828 0.752 324 949 318 0.831 221 387 136 93 133 Benign 0.035 20992 chr16 12897578 12897578 G T rs3748976 CPPED1 Nonsynonymous SNV A19D 0.173 0.156 0.184 85 203 60 0.218 54 12 3 5 10 17.9 20993 chr17 4936972 4936972 G A rs346821 SLC52A1 Nonsynonymous SNV A271V 0.632 0.698 0.694 247 742 268 0.633 204 230 90 71 76 Benign 5.979 20994 chr16 1877558 1877558 G A rs3743853 FAHD1 Nonsynonymous SNV D110N 0.166 0.19 0.122 55 195 73 0.141 36 13 5 2 3 17.72 20995 chr5 70840233 70840233 C T rs182190 BDP1 Synonymous SNV L2154L 0.428 0.456 0.408 171 502 175 0.438 120 111 44 24 38 Benign 14.17 20996 chr5 1208964 1208964 T C rs60992377 SLC6A19 Synonymous SNV G102G 0.34 0.367 0.303 164 399 141 0.421 89 65 25 17 32 Likely benign 0.257 20997 chr17 4937351 4937351 G T rs56126318 SLC52A1 Synonymous SNV R145R 0.111 0.096 0.173 44 130 37 0.113 51 6 2 3 3 12.26 20998 chr5 70849021 70849021 G T rs469039 BDP1 Synonymous SNV P2358P 0.446 0.466 0.422 182 524 179 0.467 124 121 45 30 45 Benign 5.932 20999 chr17 4937575 4937575 T C rs346822 SLC52A1 Nonsynonymous SNV Q70R 0.934 0.951 0.929 369 1096 365 0.946 273 510 173 126 174 Benign 0.001 21000 chr16 18846429 18846429 G A rs56079655 SMG1 Synonymous SNV A2705A 0.048 0.068 0.061 31 56 26 0.079 18 0 1 0 1 12.21 21001 chr16 1894912 1894912 C T rs9806826 MEIOB Synonymous SNV T277T 0.298 0.331 0.058 96 350 127 0.246 17 52 17 4 14 10.64 21002 chr16 13297348 13297348 C T rs12444395 SHISA9 Synonymous SNV P263P 0.041 0.052 0.044 29 48 20 0.074 13 0 0 2 2 23.3 21003 chr5 70945075 70945075 A G rs10064079 MCCC2 Synonymous SNV A418A 0.822 0.865 0.833 329 965 332 0.844 245 396 144 101 136 Benign 2.218 21004 chr17 49713300 49713300 G A rs11870209 CA10 Synonymous SNV Y235Y 0.493 0.534 0.503 185 579 205 0.474 148 146 57 36 42 3.738 21005 chr15 91423339 91423339 G T rs6225 FURIN Synonymous SNV R464R 0.012 0.003 0.014 0 14 1 0 4 0 0 0 0 0.898 21006 chr16 1894961 1894961 A G rs9806945 MEIOB Nonsynonymous SNV I261T 0.162 0.182 0.007 54 190 70 0.138 2 13 5 0 3 1.017 21007 chr17 5087040 5087040 A G rs9908414 ZNF594 Nonsynonymous SNV I171T 0.488 0.495 0.439 183 573 190 0.469 129 134 39 27 49 0.001 21008 chr5 71490962 71490962 A G rs1866374 MAP1B Nonsynonymous SNV I468V 0.807 0.815 0.772 309 948 313 0.792 227 378 127 87 122 0.001 21009 chr16 1004605 1004605 A G rs12448005 LMF1 Synonymous SNV L85L 0.03 0.039 0.044 20 35 15 0.051 13 0 0 0 0 0.071 21010 chr17 5126674 5126674 A G rs2641256 SCIMP Synonymous SNV G33G 0.744 0.755 0.653 279 874 290 0.715 192 319 111 61 97 Uncertain significance 14.72 21011 chr16 1389196 1389196 C T rs61749061 BAIAP3 Nonsynonymous SNV P84L 0.026 0.036 0.044 18 30 14 0.046 13 1 0 2 1 7.216 21012 chr5 71519664 71519664 C T rs3209157 MRPS27 Nonsynonymous SNV G228D 0.279 0.341 0.306 123 328 131 0.315 90 49 24 11 17 10.26 21013 chr17 5126689 5126689 G A rs2585271 SCIMP Synonymous SNV I28I 0.678 0.703 0.585 256 796 270 0.656 172 263 95 47 81 12.52 21014 chr16 1034954 1034954 T C rs11542178 SOX8 Synonymous SNV Y303Y 0.21 0.195 0.224 72 246 75 0.185 66 26 8 8 8 0.001 21015 chr17 51900729 51900729 C T rs3803824 KIF2B Nonsynonymous SNV A112V 0.362 0.383 0.381 131 425 147 0.336 112 74 22 26 18 2.275 21016 chr5 71524163 71524163 A T rs10942927 MRPS27 Synonymous SNV L152L 0.25 0.305 0.255 113 293 117 0.29 75 45 21 9 14 0.052 21017 chr17 51901084 51901084 A G rs3803825 KIF2B Synonymous SNV L230L 0.851 0.852 0.844 330 999 327 0.846 248 433 140 106 140 0.968 21018 chr15 91456607 91456607 A G rs148391309 MAN2A2 Nonsynonymous SNV I897V 0.021 0.023 0.027 6 25 9 0.015 8 0 1 0 0 10.99 21019 chr5 72184098 72184098 C T rs17606 TNPO1 Synonymous SNV D449D 0.846 0.862 0.864 332 993 331 0.851 254 425 141 108 143 13.52 21020 chr17 51901643 51901643 C T rs4561518 KIF2B Nonsynonymous SNV P417S 0.813 0.836 0.83 309 955 321 0.792 244 395 135 103 122 0.117 21021 chr16 14014055 14014055 C T rs3136042 ERCC4 Synonymous SNV A11A 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 Benign 11.71 21022 chr5 72347223 72347223 A G rs7712838 FCHO2 Synonymous SNV T296T 0.252 0.263 0.255 102 296 101 0.262 75 41 14 11 12 0.541 21023 chr17 51901703 51901703 C G rs4561519 KIF2B Nonsynonymous SNV R437G 0.848 0.852 0.844 330 995 327 0.846 248 429 140 106 140 2.622 21024 chr16 1413031 1413031 C T rs193302860 GNPTG Nonsynonymous SNV T286M 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Uncertain significance 8.526 21025 chr5 72351905 72351905 A G rs57213367 FCHO2 Synonymous SNV T375T 0.079 0.068 0.071 37 93 26 0.095 21 6 1 3 2 0.658 21026 chr5 72419267 72419267 T C rs638333 TMEM171 Nonsynonymous SNV F23L 0.307 0.346 0.272 115 361 133 0.295 80 51 25 16 16 26.5 21027 chr5 1294086 1294086 C T rs2736098 TERT Synonymous SNV A305A 0.304 0.271 0.252 99 357 104 0.254 74 57 10 9 10 Benign 13.58 21028 chr17 51902252 51902252 C T rs3826355 KIF2B Synonymous SNV L620L 0.816 0.839 0.83 309 958 322 0.792 244 398 136 103 122 0.02 21029 chr17 5280440 5280440 T C rs3026101 RABEP1 Synonymous SNV R642R 0.288 0.253 0.33 132 338 97 0.338 97 56 10 18 27 0.003 21030 chr17 5284698 5284698 A G rs1143206 RABEP1 Synonymous SNV Q762Q 0.415 0.365 0.432 172 487 140 0.441 127 102 22 26 36 7.469 21031 chr16 10788424 10788424 G A rs143356838 TEKT5 Nonsynonymous SNV R103C 0.003 0 0 0 4 0 0 0 0 0 0 0 13.74 21032 chr5 72419410 72419410 A G rs7731777 TMEM171 Synonymous SNV G70G 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.766 21033 chr16 1435363 1435363 C A rs752481903 UNKL Synonymous SNV A370A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 14.38 21034 chr17 5284719 5284719 T C rs1065482 RABEP1 Synonymous SNV N769N 0.416 0.365 0.432 171 488 140 0.438 127 102 22 26 35 5.838 21035 chr16 19310092 19310092 T C rs1548450 CLEC19A Synonymous SNV A62A 0.246 0.237 0.262 106 289 91 0.272 77 39 4 9 13 0.313 21036 chr16 1447265 1447351 CCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC - UNKL Stop gain S246* 0.293 0.31 0.429 127 344 119 0.326 126 23 11 48 14 21037 chr5 72419456 72419456 C G rs637450 TMEM171 Nonsynonymous SNV R86G 0.284 0.24 0.238 103 334 92 0.264 70 45 13 9 15 13.64 21038 chr17 5284770 5284770 G A rs1065483 RABEP1 Synonymous SNV R786R 0.428 0.378 0.446 174 502 145 0.446 131 106 24 28 37 12.04 21039 chr16 19318942 19318942 G A rs150196116 CLEC19A Nonsynonymous SNV V142I 0.025 0.029 0.024 7 29 11 0.018 7 0 0 0 0 8.335 21040 chr17 5289580 5289580 A G rs11209 NUP88 Synonymous SNV H740H 0.386 0.344 0.415 173 453 132 0.444 122 88 19 27 38 4.718 21041 chr5 72419617 72419617 C A rs636926 TMEM171 Nonsynonymous SNV N139K 0.284 0.24 0.238 102 334 92 0.262 70 45 13 9 15 10.47 21042 chr17 5290033 5290033 T C rs1071705 NUP88 Synonymous SNV K735K 0.416 0.365 0.432 171 488 140 0.438 127 101 22 26 35 2.034 21043 chr17 5294976 5294976 T A rs14231 NUP88 Synonymous SNV P463P 0.417 0.365 0.432 171 489 140 0.438 127 102 22 26 35 7.755 21044 chr17 53076799 53076799 G A rs1156287 STXBP4 Nonsynonymous SNV G92R 0.725 0.721 0.704 271 851 277 0.695 207 304 101 76 89 4.415 21045 chr5 72874907 72874907 A C rs343122 UTP15 Synonymous SNV G214G 0.212 0.263 0.228 104 249 101 0.267 67 26 11 5 9 5.225 21046 chr16 19548740 19548740 A G rs17227190 CCP110 Synonymous SNV K583K 0.049 0.063 0.044 13 57 24 0.033 13 1 1 0 0 Benign 0.236 21047 chr15 89876827 89876827 - TGCTGC rs41550117 POLG Q55_P56insQQ 0.02 0.016 0.02 10 24 6 0.026 6 0 0 0 0 21048 chr5 73072354 73072354 T C rs7714670 ARHGEF28 Nonsynonymous SNV W225R 0.399 0.435 0.425 151 468 167 0.387 125 101 29 28 27 Benign 0.015 21049 chr16 1486462 1486462 C T rs35583599 CCDC154 Nonsynonymous SNV A491T 0.14 0.128 0.092 39 164 49 0.1 27 12 4 4 0 10.55 21050 chr17 5308377 5308377 C T rs2301739 NUP88 Synonymous SNV T348T 0.173 0.154 0.197 86 203 59 0.221 58 15 2 6 7 7.995 21051 chr17 53158492 53158492 G A rs8069999 STXBP4 Synonymous SNV A479A 0.296 0.292 0.32 102 347 112 0.262 94 43 18 18 17 2.937 21052 chr5 73076511 73076511 C A rs6453022 ARHGEF28 Nonsynonymous SNV P284Q 0.493 0.505 0.493 178 579 194 0.456 145 150 42 38 39 Benign 0.007 21053 chr17 5366947 5366947 G A rs8069315 DHX33 Nonsynonymous SNV R118C 0.104 0.128 0.122 52 122 49 0.133 36 7 3 0 3 34 21054 chr16 1488141 1488141 C T rs12925639 CCDC154 Synonymous SNV G354G 0.233 0.203 0.207 79 274 78 0.203 61 30 10 8 5 9.308 21055 chr17 53851228 53851228 C T rs2960062 PCTP Synonymous SNV I89I 0.963 0.935 0.949 359 1130 359 0.921 279 545 167 132 165 20.1 21056 chr5 73090261 73090261 T C rs7716253 ARHGEF28 Synonymous SNV A315A 0.463 0.492 0.473 175 543 189 0.449 139 128 42 36 35 Benign 0.092 21057 chr17 5404152 5404152 G A rs145122087 LOC728392 Nonsynonymous SNV S42L 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 9.449 21058 chr16 1492413 1492413 T C rs71380262 CCDC154 Synonymous SNV R223R 0.114 0.117 0.075 37 134 45 0.095 22 6 3 4 0 0.116 21059 chr5 73090267 73090267 G A rs78041050 ARHGEF28 Synonymous SNV K317K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 9.096 21060 chr17 5404262 5404262 G C rs872569 LOC728392 Synonymous SNV L5L 0.136 0.161 0.167 56 160 62 0.144 49 23 10 4 6 12.71 21061 chr5 5239921 5239921 C T rs11742341 ADAMTS16 Synonymous SNV T802T 0.206 0.19 0.184 71 242 73 0.182 54 21 6 5 5 18.41 21062 chr16 1493662 1493662 G A rs35181211 CCDC154 Nonsynonymous SNV R87W 0.032 0.016 0.014 11 37 6 0.028 4 0 0 0 0 16.09 21063 chr5 73142296 73142296 C T rs2973571 ARHGEF28 Nonsynonymous SNV S231L 0.267 0.292 0.197 84 313 112 0.215 58 44 19 7 7 Benign 18.93 21064 chr17 5404270 5404270 C T rs55910638 LOC728392 Nonsynonymous SNV D3N 0.073 0.086 0.099 33 86 33 0.085 29 9 4 1 3 14.97 21065 chr15 93015230 93015230 C A rs72647729 C15orf32 0.049 0.034 0 15 57 13 0.038 0 1 0 0 0 4.782 21066 chr5 5240002 5240002 C A rs11742370 ADAMTS16 Synonymous SNV I829I 0.203 0.19 0.187 70 238 73 0.179 55 21 6 5 5 18.58 21067 chr17 5424886 5424886 G T rs2301583 NLRP1 Synonymous SNV T1217T 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 0.94 21068 chr16 1493857 1493857 G A rs201466139 CCDC154 Nonsynonymous SNV T55I 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.017 21069 chr17 5425077 5425077 T C rs11651270 NLRP1 Nonsynonymous SNV M1154V 0.491 0.49 0.459 176 576 188 0.451 135 136 43 28 43 Benign 0.048 21070 chr5 73144845 73144845 A G rs2973568 ARHGEF28 Synonymous SNV S247S 0.611 0.594 0.578 228 717 228 0.585 170 235 73 49 68 Benign 10.23 21071 chr16 1493909 1493909 C T rs34470360 CCDC154 Nonsynonymous SNV E38K 0.114 0.117 0.075 38 134 45 0.097 22 6 3 4 0 22.6 21072 chr5 73148481 73148481 G A rs2973566 ARHGEF28 Nonsynonymous SNV R272K 0.264 0.294 0.201 86 310 113 0.221 59 45 20 7 8 Benign 32 21073 chr17 5436263 5436263 C T rs2301582 NLRP1 Nonsynonymous SNV V1029M 0.372 0.391 0.33 135 437 150 0.346 97 80 23 12 28 10.6 21074 chr16 2004142 2004142 C T rs201864074 RPL3L Nonsynonymous SNV R4Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 21075 chr5 73163831 73163831 C T rs2931423 ARHGEF28 Synonymous SNV G448G 0.32 0.313 0.262 111 376 120 0.285 77 56 23 13 15 Benign 14.27 21076 chr16 1500501 1500501 C T rs117461525 CLCN7 Synonymous SNV A514A 0.115 0.117 0.082 32 135 45 0.082 24 6 2 4 0 Benign 14.73 21077 chr17 54450038 54450038 C A rs957724 ANKFN1 Synonymous SNV L214L 0.688 0.719 0.663 259 808 276 0.664 195 274 100 63 89 12.57 21078 chr16 1502857 1502857 C T rs12926089 CLCN7 Nonsynonymous SNV V394M 0.119 0.125 0.092 35 140 48 0.09 27 6 3 4 0 Benign/Likely benign 12.19 21079 chr5 73163965 73163965 C A rs2973558 ARHGEF28 Nonsynonymous SNV H467N 0.32 0.313 0.262 111 376 120 0.285 77 56 23 13 15 Benign 11.75 21080 chr17 54450134 54450134 G A rs8069322 ANKFN1 Synonymous SNV K246K 0.722 0.758 0.684 270 848 291 0.692 201 301 111 65 95 6.371 21081 chr5 6604787 6604787 C T rs13181449 NSUN2 Synonymous SNV T548T 0.164 0.154 0.214 56 193 59 0.144 63 20 8 7 3 Benign 14.01 21082 chr17 54534634 54534634 G A rs10852985 ANKFN1 Nonsynonymous SNV V445I 0.719 0.755 0.622 277 844 290 0.71 183 307 110 72 101 24.8 21083 chr16 14334126 14334126 C A rs75963814 MRTFB Nonsynonymous SNV H277Q 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 23.9 21084 chr5 73207372 73207372 T A rs1478453 ARHGEF28 Nonsynonymous SNV H1327Q 0.412 0.398 0.357 147 484 153 0.377 105 101 34 20 32 Benign 2.224 21085 chr5 6663068 6663068 A G SRD5A1 Synonymous SNV K187K 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.01 21086 chr16 1502864 1502864 A G rs12926669 CLCN7 Synonymous SNV I391I 0.119 0.122 0.088 35 140 47 0.09 26 6 3 4 0 Benign 0.35 21087 chr17 5485367 5485367 A T rs12150220 NLRP1 Nonsynonymous SNV L155H 0.492 0.518 0.422 176 578 199 0.451 124 143 48 23 44 risk factor 2.989 21088 chr16 2014528 2014528 G A rs17135712 RPS2 Synonymous SNV I33I 0.098 0.073 0.095 38 115 28 0.097 28 8 0 0 2 10.8 21089 chr16 14339497 14339497 T C rs113935526 MRTFB Nonsynonymous SNV S387P 0.008 0.013 0.01 0 9 5 0 3 0 0 0 0 Likely benign 19.27 21090 chr5 73931246 73931246 T C rs442425 ENC1 Synonymous SNV S282S 0.803 0.807 0.847 309 943 310 0.792 249 388 124 106 125 0.077 21091 chr5 7520881 7520881 G T rs13166360 ADCY2 Nonsynonymous SNV V147L 0.227 0.229 0.241 96 267 88 0.246 71 27 11 13 12 23 21092 chr16 2014591 2014591 C T rs1141684 RPS2 Synonymous SNV G12G 0.098 0.076 0.095 38 115 29 0.097 28 8 0 0 2 13.89 21093 chr17 54872439 54872439 T C rs72837329 C17orf67 Nonsynonymous SNV I87V 0.178 0.182 0.18 60 209 70 0.154 53 19 5 5 5 0.004 21094 chr16 11647532 11647532 C T rs9282774 LITAF Synonymous SNV T78T 0.031 0.034 0.024 9 36 13 0.023 7 0 1 0 0 Benign 12.67 21095 chr16 1504437 1504437 C T rs12935737 CLCN7 Synonymous SNV P352P 0.117 0.122 0.082 35 137 47 0.09 24 6 3 3 0 Benign 15.37 21096 chr5 73981270 73981270 T C rs820878 HEXB Nonsynonymous SNV L62S 0.983 0.977 0.966 376 1154 375 0.964 284 567 183 137 181 Benign 0.1 21097 chr16 2025206 2025206 A C rs8053843 TBL3 Synonymous SNV I218I 0.208 0.156 0.184 74 244 60 0.19 54 28 4 4 5 0.026 21098 chr15 98512431 98512431 C T rs61747226 ARRDC4 Nonsynonymous SNV T235M 0.06 0.065 0.034 29 71 25 0.074 10 7 0 0 0 34 21099 chr16 1509123 1509123 G A rs12923538 CLCN7 Synonymous SNV H196H 0.184 0.156 0.156 57 216 60 0.146 46 17 7 8 2 Benign 8.982 21100 chr16 2025604 2025604 G C rs8052713 TBL3 Nonsynonymous SNV E294Q 0.124 0.096 0.095 48 145 37 0.123 28 10 1 0 4 8.09 21101 chr17 54912339 54912339 G A rs1048159 DGKE Synonymous SNV G61G 0.17 0.188 0.173 55 200 72 0.141 51 16 6 5 4 12.26 21102 chr5 7757647 7757647 C G rs52827085 ADCY2 Nonsynonymous SNV S681C 0.063 0.078 0.065 32 74 30 0.082 19 1 0 2 1 9.048 21103 chr17 55123748 55123748 C T rs3213728 RNF126P1 0 0 0.327 0 0 0 0 96 0 0 16 0 7.422 21104 chr5 74324548 74324548 G A rs3811987 GCNT4 Nonsynonymous SNV P439S 0.347 0.32 0.333 107 407 123 0.274 98 78 18 16 21 3.815 21105 chr17 55123867 55123867 - GACT rs3217120 RNF126P1 0 0 0.323 0 0 0 0 95 0 0 17 0 21106 chr17 55822214 55822214 T A rs12451753 CCDC182 Synonymous SNV G140G 0.439 0.419 0.503 166 515 161 0.426 148 130 32 34 36 3.807 21107 chr16 15129970 15129970 A G rs7200543 PDXDC1 Synonymous SNV L708L 0.287 0.281 0.269 111 337 108 0.285 79 50 15 14 16 5.102 21108 chr16 2025678 2025678 C A rs17602 TBL3 Synonymous SNV L318L 0.105 0.083 0.088 40 123 32 0.103 26 7 1 0 2 7.801 21109 chr5 7866967 7866967 G C rs162030 FASTKD3 Synonymous SNV A410A 0.752 0.747 0.755 285 883 287 0.731 222 327 106 83 102 1.181 21110 chr17 55822467 55822467 G A rs12449409 CCDC182 Nonsynonymous SNV A56V 0.44 0.419 0.503 166 516 161 0.426 148 130 32 34 36 12.9 21111 chr5 74324902 74324902 C T rs4704166 GCNT4 Nonsynonymous SNV V321I 0.346 0.32 0.33 107 406 123 0.274 97 78 18 15 21 0.002 21112 chr16 15131962 15131962 A G rs1135999 NTAN1 Nonsynonymous SNV S182P 0.285 0.279 0.269 111 335 107 0.285 79 50 15 14 16 13.34 21113 chr15 89169614 89169614 A G rs3743476 AEN Synonymous SNV E58E 0.305 0.318 0.35 132 358 122 0.338 103 64 19 17 28 2.866 21114 chr16 2028402 2028402 A C rs8460 TBL3 Synonymous SNV R741R 0.326 0.281 0.293 118 383 108 0.303 86 62 10 12 12 0.003 21115 chr5 7868030 7868030 T C rs2966952 FASTKD3 Nonsynonymous SNV K56R 0.753 0.75 0.755 285 884 288 0.731 222 328 107 83 102 0.001 21116 chr17 56232675 56232675 G A rs12602205 OR4D1 Nonsynonymous SNV R54Q 0.071 0.081 0.102 36 83 31 0.092 30 1 2 2 2 8.65 21117 chr16 2030127 2030127 G A rs61729118 NOXO1 Nonsynonymous SNV L157F 0.106 0.078 0.054 46 124 30 0.118 16 7 1 0 4 13.82 21118 chr16 15131974 15131974 G T rs1136001 NTAN1 Nonsynonymous SNV H178N 0.285 0.279 0.265 110 335 107 0.282 78 50 15 13 16 0.81 21119 chr5 74400516 74400516 G C rs56174528 ANKRD31 Nonsynonymous SNV T1566R 0.111 0.081 0.105 33 130 31 0.085 31 4 3 5 1 6.794 21120 chr17 56233234 56233234 C T rs62636635 OR4D1 Synonymous SNV C240C 0.048 0.042 0.082 22 56 16 0.056 24 0 0 2 0 9.97 21121 chr5 7870973 7870973 A G rs1801394 MTRR Nonsynonymous SNV I22M 0.42 0.404 0.466 170 493 155 0.436 137 92 31 35 33 drug response 23.3 21122 chr16 20328685 20328685 T C rs1129818 GP2 Synonymous SNV Q275Q 0.449 0.458 0.401 166 527 176 0.426 118 122 41 29 30 0.002 21123 chr17 56247306 56247306 G C rs80043692 OR4D2 Nonsynonymous SNV C97S 0.083 0.065 0.095 53 98 25 0.136 28 3 2 0 3 24.4 21124 chr5 74442410 74442410 G A rs1422699 ANKRD31 Synonymous SNV F942F 0.409 0.409 0.405 148 480 157 0.379 119 99 31 28 25 0.621 21125 chr16 15133889 15133889 T G rs14347 NTAN1 Synonymous SNV A87A 0.285 0.281 0.265 109 335 108 0.279 78 50 15 13 16 13.53 21126 chr15 99511765 99511765 T C rs142522740 PGPEP1L Nonsynonymous SNV K178R 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 0.001 21127 chr5 7878179 7878179 C T rs1532268 MTRR Nonsynonymous SNV S175L 0.368 0.367 0.296 145 432 141 0.372 87 84 28 9 25 Benign 0.053 21128 chr5 74442920 74442920 A G rs6888707 ANKRD31 Synonymous SNV T772T 0.409 0.411 0.405 148 480 158 0.379 119 99 31 28 25 0.058 21129 chr17 56247454 56247454 A G rs9912728 OR4D2 Synonymous SNV V146V 0.083 0.065 0.095 53 98 25 0.136 28 3 2 0 3 0.333 21130 chr16 20370810 20370810 C T rs9652588 PDILT Nonsynonymous SNV G529E 0.457 0.456 0.439 171 536 175 0.438 129 119 33 30 34 0.077 21131 chr5 74442964 74442964 T C rs6893216 ANKRD31 Nonsynonymous SNV R758G 0.096 0.076 0.102 26 113 29 0.067 30 5 3 6 1 22.1 21132 chr17 56247575 56247575 C T rs74730740 OR4D2 Nonsynonymous SNV L187F 0.083 0.065 0.095 53 98 25 0.136 28 3 2 0 3 28.6 21133 chr16 1245980 1245980 C T rs369696168 CACNA1H Synonymous SNV T200T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 21134 chr5 7897319 7897319 G A rs1802059 MTRR Synonymous SNV A637A 0.367 0.365 0.296 146 431 140 0.374 87 83 28 9 25 Benign 9.432 21135 chr15 89382261 89382261 G A rs35600223 ACAN Synonymous SNV L146L 0.013 0.021 0.007 2 15 8 0.005 2 0 0 0 0 Benign 8.415 21136 chr17 56271094 56271094 G C rs11652709 EPX Nonsynonymous SNV Q122H 0.273 0.297 0.252 133 320 114 0.341 74 38 18 7 19 22.3 21137 chr16 20370816 20370816 C T rs9652589 PDILT Nonsynonymous SNV R527K 0.457 0.456 0.439 171 536 175 0.438 129 119 33 30 34 0.017 21138 chr5 74443132 74443132 C T rs1422698 ANKRD31 Nonsynonymous SNV D702N 0.409 0.411 0.408 147 480 158 0.377 120 99 31 28 24 4.091 21139 chr5 9190404 9190404 G A rs1806095 SEMA5A Synonymous SNV L416L 0.13 0.112 0.129 64 153 43 0.164 38 6 1 2 8 12.48 21140 chr17 56272390 56272390 A G rs2240815 EPX Synonymous SNV R220R 0.399 0.414 0.405 160 469 159 0.41 119 86 39 27 31 1.752 21141 chr5 74491492 74491492 C T rs11739870 ANKRD31 Synonymous SNV T327T 0.033 0.039 0.034 13 39 15 0.033 10 0 0 0 0 9.349 21142 chr16 20376755 20376755 T C rs8054266 PDILT Synonymous SNV V408V 0.612 0.594 0.558 231 718 228 0.592 164 213 62 46 66 3.456 21143 chr17 56344867 56344867 G A rs8178409 LPO Synonymous SNV P534P 0.124 0.135 0.173 81 145 52 0.208 51 9 5 2 6 10.37 21144 chr5 74491716 74491718 TCA - rs10563854 ANKRD31 M252del 0.406 0.411 0.408 148 477 158 0.379 120 98 31 28 23 21145 chr16 2049640 2049640 A G rs2286469 ZNF598 Nonsynonymous SNV M637T 0.536 0.49 0.507 203 629 188 0.521 149 178 54 36 46 0.002 21146 chr17 56393840 56393840 G C rs61739511 TSPOAP1 Nonsynonymous SNV A585G 0.046 0.042 0.088 29 54 16 0.074 26 0 0 0 2 4.074 21147 chr5 74681773 74681773 T C rs698912 CERT1 Synonymous SNV E431E 0.223 0.201 0.238 76 262 77 0.195 70 31 10 12 4 6.463 21148 chr5 74877266 74877266 C T rs3213801 POLK Synonymous SNV A243A 0.218 0.195 0.218 78 256 75 0.2 64 32 10 11 4 15.47 21149 chr16 2049728 2049728 C T rs11248905 ZNF598 Nonsynonymous SNV A608T 0.129 0.102 0.126 49 152 39 0.126 37 9 3 1 3 0.229 21150 chr17 56435885 56435885 G T rs2526374 RNF43 Nonsynonymous SNV L291M 0.367 0.393 0.367 146 431 151 0.374 108 85 28 16 25 Benign 13.78 21151 chr5 74921686 74921686 G A rs9332464 ANKDD1B Nonsynonymous SNV S169N 0.223 0.208 0.235 79 262 80 0.203 69 32 10 12 3 7.724 21152 chr16 2049849 2049849 T C rs12149722 ZNF598 Synonymous SNV T567T 0.13 0.102 0.099 49 153 39 0.126 29 9 3 1 3 0.015 21153 chr17 56448297 56448297 C T rs2257205 RNF43 Nonsynonymous SNV R117H 0.099 0.094 0.139 56 116 36 0.144 41 8 1 3 4 26.2 21154 chr5 74965092 74965092 G A rs139309851 ANKDD1B Nonsynonymous SNV R470H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 12.62 21155 chr16 15865472 15865472 G A rs4781689 MYH11 Synonymous SNV T329T 0.09 0.122 0.071 28 106 47 0.072 21 4 0 2 0 Benign/Likely benign 13.98 21156 chr16 2049882 2049882 - TCC rs141374045 ZNF598 E555_D556insE 0.129 0.102 0.071 49 151 39 0.126 21 9 3 1 3 21157 chr5 75003678 75003678 T C rs2307111 POC5 Nonsynonymous SNV H11R 0.405 0.401 0.442 164 476 154 0.421 130 96 28 28 28 0.049 21158 chr17 56492800 56492800 T C rs3744093 RNF43 Nonsynonymous SNV I47V 0.37 0.385 0.405 163 434 148 0.418 119 84 27 27 34 Benign 2.468 21159 chr16 2050192 2050192 G T rs11556528 ZNF598 Nonsynonymous SNV S453Y 0.132 0.107 0.116 54 155 41 0.138 34 10 3 2 3 11.57 21160 chr16 1020874 1020874 C T rs111980103 LMF1 Nonsynonymous SNV G36D 0.066 0.063 0.058 17 77 24 0.044 17 3 0 1 1 2.738 21161 chr15 99192755 99192763 TTTTTTTTT - rs544674838 IRAIN 0.221 0.185 0.282 88 260 71 0.226 83 117 32 31 38 21162 chr15 99465473 99465473 C T rs3743262 IGF1R Synonymous SNV T766T 0.024 0.018 0.014 3 28 7 0.008 4 0 0 0 0 Benign 11.96 21163 chr17 56544280 56544280 T G rs1017089 HSF5 Nonsynonymous SNV N329T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.92 21164 chr5 75427935 75427935 G A rs10070440 SV2C Synonymous SNV R120R 0.714 0.708 0.687 284 838 272 0.728 202 308 97 70 104 0.49 21165 chr16 16138313 16138313 G A rs2230669 ABCC1 Synonymous SNV P272P 0.082 0.073 0.051 36 96 28 0.092 15 2 1 0 2 2.229 21166 chr5 75884734 75884734 G A rs1131232 IQGAP2 Synonymous SNV L104L 0.508 0.484 0.483 214 596 186 0.549 142 146 48 30 60 10.13 21167 chr17 56584205 56584205 A C rs2302189 MTMR4 Nonsynonymous SNV V297G 0.362 0.38 0.395 168 425 146 0.431 116 78 29 25 37 17.47 21168 chr5 75923285 75923285 C T rs2431351 IQGAP2 Synonymous SNV A77A 0.664 0.638 0.629 259 780 245 0.664 185 256 77 56 86 12.64 21169 chr16 1270726 1270726 G A CACNA1H Nonsynonymous SNV S2259N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 21170 chr5 75923294 75923294 T G rs2431352 IQGAP2 Nonsynonymous SNV D80E 0.977 0.969 0.973 387 1147 372 0.992 286 561 181 139 192 0.003 21171 chr17 56585872 56585872 G C rs3744108 MTMR4 Nonsynonymous SNV L170V 0.36 0.378 0.395 165 423 145 0.423 116 78 28 25 36 23.1 21172 chr17 56598439 56598439 T C rs1057068 SEPTIN4 Synonymous SNV T300T 0.363 0.378 0.398 165 426 145 0.423 117 81 28 25 36 0.021 21173 chr5 75923307 75923307 A G rs2909888 IQGAP2 Nonsynonymous SNV K85E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.004 21174 chr15 90344348 90344348 C T rs140909814 ANPEP Nonsynonymous SNV V605I 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 0.537 21175 chr17 56618030 56618030 C T rs8073754 SEPTIN4 Nonsynonymous SNV R2K 0.229 0.221 0.228 83 269 85 0.213 67 27 10 5 10 15.68 21176 chr5 13754394 13754394 C T rs2401809 DNAH5 Synonymous SNV T3491T 0.361 0.346 0.425 124 424 133 0.318 125 73 22 32 20 Benign 12.34 21177 chr17 56621286 56621286 G T rs8071623 SEPTIN4 Nonsynonymous SNV P88T 0.733 0.758 0.803 311 860 291 0.797 236 306 107 95 127 4.469 21178 chr5 75932869 75932869 C T rs2910819 IQGAP2 Synonymous SNV D150D 0.671 0.646 0.636 260 788 248 0.667 187 263 80 59 86 15.07 21179 chr5 13788886 13788886 C A rs10513155 DNAH5 Nonsynonymous SNV L2862F 0.351 0.359 0.34 125 412 138 0.321 100 78 24 13 22 Benign 22.1 21180 chr15 90344352 90344352 T C rs8192297 ANPEP Nonsynonymous SNV I603M 0.166 0.154 0.187 54 195 59 0.138 55 26 3 4 7 0.026 21181 chr17 56621359 56621359 T C rs6503867 SEPTIN4 Synonymous SNV S63S 0.733 0.758 0.803 311 860 291 0.797 236 306 107 95 127 1.571 21182 chr16 1272684 1272684 C G rs4984638 TPSG1 Nonsynonymous SNV W160S 0.118 0.115 0.082 54 139 44 0.138 24 7 4 0 3 22.9 21183 chr5 75932965 75932965 G C rs2455230 IQGAP2 Nonsynonymous SNV L182F 0.669 0.635 0.629 260 785 244 0.667 185 260 77 56 86 2.175 21184 chr15 90347814 90347814 G A rs17240268 ANPEP Nonsynonymous SNV A311V 0.079 0.073 0.112 25 93 28 0.064 33 4 1 2 1 15.14 21185 chr17 56636854 56636854 T C rs7225128 TEX14 Synonymous SNV E1409E 0.733 0.76 0.789 311 860 292 0.797 232 306 108 95 127 3.05 21186 chr16 20787240 20787240 T C rs5713 ACSM3 Nonsynonymous SNV L100P 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 27.2 21187 chr17 56659018 56659018 C T rs6503870 TEX14 Nonsynonymous SNV G1088D 0.644 0.625 0.605 222 756 240 0.569 178 245 76 56 63 9.526 21188 chr5 75948650 75948650 A G rs2431363 IQGAP2 Nonsynonymous SNV I220V 0.577 0.581 0.609 231 677 223 0.592 179 196 66 51 68 5.606 21189 chr15 90348682 90348682 A T rs113547384 ANPEP Synonymous SNV T209T 0.006 0.018 0.017 4 7 7 0.01 5 0 0 0 0 0.004 21190 chr16 1706435 1706435 C T rs61739874 CRAMP1 Synonymous SNV D559D 0.243 0.24 0.241 89 285 92 0.228 71 38 6 6 9 9.189 21191 chr17 56690848 56690848 T C rs8077548 TEX14 Synonymous SNV L319L 0.064 0.06 0.085 28 75 23 0.072 25 2 0 0 1 0.216 21192 chr16 1273490 1273490 C T rs760357 TPSG1 Nonsynonymous SNV V60M 0.118 0.107 0.075 51 138 41 0.131 22 7 3 0 1 20.8 21193 chr5 75960865 75960865 T C rs253093 IQGAP2 Synonymous SNV H344H 0.995 0.992 0.963 387 1168 381 0.992 283 581 189 139 192 4.434 21194 chr17 56833457 56833457 - GAACCC rs201186780 PPM1E E44_S45insPE 0.635 0.62 0.595 220 745 238 0.564 175 240 76 54 62 21195 chr16 105814 105814 G A rs79411281 SNRNP25 Synonymous SNV L57L 0.001 0.016 0.007 0 1 6 0 2 0 0 0 0 3.564 21196 chr5 76128521 76128521 G A rs616235 F2RL1 Nonsynonymous SNV S30N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.003 21197 chr17 57287454 57287454 A G rs6503905 SMG8 Synonymous SNV A14A 0.642 0.661 0.626 226 754 254 0.579 184 244 85 54 67 0.003 21198 chr17 57290383 57290383 G A rs3744383 SMG8 Synonymous SNV R733R 0.244 0.263 0.289 93 286 101 0.238 85 33 14 11 10 8.394 21199 chr5 76129053 76129053 T C rs631465 F2RL1 Synonymous SNV I207I 0.968 0.961 0.963 378 1137 369 0.969 283 552 177 136 183 5.678 21200 chr17 57951973 57951973 G A rs2250526 TUBD1 Synonymous SNV Y71Y 0.144 0.143 0.139 61 169 55 0.156 41 16 0 4 3 5.247 21201 chr17 57963537 57963537 A G rs1292053 TUBD1 Nonsynonymous SNV M76T 0.514 0.505 0.48 211 604 194 0.541 141 155 49 36 55 5.529 21202 chr5 13931340 13931340 C T rs1530496 DNAH5 Nonsynonymous SNV G24E 0.268 0.281 0.228 107 315 108 0.274 67 45 17 6 18 Benign 16.04 21203 chr5 76171252 76171252 A C rs1320308 S100Z Nonsynonymous SNV E23A 0.642 0.635 0.667 249 754 244 0.638 196 240 74 66 74 23.1 21204 chr16 111247 111247 C T rs79691782 RHBDF1 Synonymous SNV S476S 0.109 0.109 0.058 47 128 42 0.121 17 5 2 0 2 14.53 21205 chr16 21051209 21051209 G C rs330150 DNAH3 Nonsynonymous SNV I1519M 0.088 0.122 0.095 33 103 47 0.085 28 3 1 2 1 Benign 25.2 21206 chr17 58156240 58156240 G A HEATR6 Synonymous SNV S12S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 21207 chr16 1822947 1822947 C G rs1076695 MRPS34 Synonymous SNV V58V 0.196 0.182 0.201 79 230 70 0.203 59 19 9 6 6 11.79 21208 chr17 58786625 58786625 A G rs2643103 BCAS3 Nonsynonymous SNV N87S 0.985 0.992 0.973 382 1156 381 0.979 286 569 189 141 187 9.637 21209 chr5 76343999 76343999 T C rs13155212 AGGF1 Synonymous SNV I405I 0.229 0.221 0.19 88 269 85 0.226 56 20 13 5 12 7.066 21210 chr16 15785049 15785049 C T rs113493697 NDE1 Nonsynonymous SNV T191I 0.011 0.01 0.014 4 13 4 0.01 4 0 0 0 0 Benign/Likely benign 23.1 21211 chr5 76359024 76359024 C A rs34400049 AGGF1 Nonsynonymous SNV P698T 0.169 0.211 0.245 83 198 81 0.213 72 40 20 7 19 9.102 21212 chr16 1129848 1129848 C T rs61736143 SSTR5 Nonsynonymous SNV A327V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 21213 chr17 58824567 58824567 T C rs7501675 BCAS3 Synonymous SNV G110G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.571 21214 chr16 1836796 1836796 C A rs2235648 NUBP2 Synonymous SNV I58I 0.622 0.602 0.636 244 730 231 0.626 187 225 67 59 76 12.4 21215 chr16 21133339 21133339 G A rs140516491 DNAH3 Nonsynonymous SNV S504F 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 23.1 21216 chr5 76704849 76704849 T C rs186753 PDE8B Synonymous SNV P402P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.684 21217 chr17 59485555 59485555 C T rs1057987 TBX2 Synonymous SNV S609S 0.645 0.682 0.622 279 757 262 0.715 183 243 89 60 102 10.26 21218 chr5 76708987 76708987 A G rs335614 PDE8B Synonymous SNV E491E 0.744 0.688 0.694 285 873 264 0.731 204 328 87 75 110 Benign 8.753 21219 chr17 59489893 59489893 T C rs9907379 C17orf82 0.714 0.727 0.701 301 838 279 0.772 206 296 100 76 117 5.074 21220 chr5 76728996 76728996 T C rs72769029 WDR41 Synonymous SNV K448K 0.039 0.044 0.037 12 46 17 0.031 11 0 0 0 0 11.43 21221 chr17 59533868 59533868 G C rs3744448 TBX4 Nonsynonymous SNV G6A 0.116 0.102 0.136 44 136 39 0.113 40 6 2 1 3 Benign 10.16 21222 chr5 76734084 76734084 C T rs33204 WDR41 Nonsynonymous SNV V329I 0.438 0.438 0.48 178 514 168 0.456 141 117 32 40 36 1.803 21223 chr5 14769103 14769103 G A rs17251667 ANKH Synonymous SNV A98A 0.222 0.211 0.194 102 261 81 0.262 57 22 9 2 15 Benign 9.726 21224 chr16 15820863 15820863 C T rs16967494 MYH11 Nonsynonymous SNV A1234T 0.163 0.161 0.146 59 191 62 0.151 43 15 4 3 6 Benign 22.2 21225 chr16 14029033 14029033 G A rs1800067 ERCC4 Nonsynonymous SNV R415Q 0.114 0.122 0.082 57 134 47 0.146 24 9 1 0 0 Benign 35 21226 chr16 21215672 21215672 A G rs2075526 ZP2 Synonymous SNV P249P 0.257 0.268 0.306 119 302 103 0.305 90 42 18 11 15 1.167 21227 chr17 59534987 59534987 T G rs3744447 TBX4 Synonymous SNV A92A 0.135 0.143 0.207 52 158 55 0.133 61 9 4 2 5 Benign 14.19 21228 chr16 21272591 21272591 G C rs14122 CRYM Synonymous SNV T288T 0.405 0.388 0.398 132 475 149 0.338 117 94 33 22 25 Benign 8.405 21229 chr17 59557600 59557600 C T rs3744438 TBX4 Nonsynonymous SNV A314V 0.168 0.154 0.187 63 197 59 0.162 55 18 5 6 8 Benign 18.43 21230 chr5 76926578 76926578 T C rs13357072 OTP Synonymous SNV K163K 0.982 0.987 0.993 381 1153 379 0.977 292 567 187 145 187 10.82 21231 chr16 15839034 15839034 G A rs1050113 MYH11 Synonymous SNV A824A 0.222 0.227 0.221 86 261 87 0.221 65 24 8 6 12 Benign 14.37 21232 chr16 1129189 1129189 C T rs4988486 SSTR5 Synonymous SNV F107F 0.01 0.005 0.003 9 12 2 0.023 1 0 0 0 0 Benign 13.67 21233 chr5 16481185 16481185 A G rs16868675 RETREG1 Synonymous SNV C60C 0.017 0.01 0.034 8 20 4 0.021 10 1 0 1 1 Benign 6.323 21234 chr16 21689879 21689879 T A rs78970023 OTOA Nonsynonymous SNV F15Y 0.014 0.003 0.024 9 17 1 0.023 7 1 0 0 1 Benign 23.3 21235 chr5 77412011 77412011 A G rs42360 AP3B1 Synonymous SNV A623A 0.198 0.195 0.221 81 232 75 0.208 65 22 7 4 9 Benign 10.52 21236 chr16 1129561 1129561 G A rs35804776 SSTR5 Synonymous SNV A231A 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 Benign 0.94 21237 chr5 16673975 16673975 C G rs25901 MYO10 Nonsynonymous SNV S1663T 0.673 0.682 0.721 262 790 262 0.672 212 261 92 77 87 16.35 21238 chr16 15850204 15850204 A G rs2272554 MYH11 Synonymous SNV A581A 0.309 0.305 0.337 118 363 117 0.303 99 54 16 16 23 Benign 3.602 21239 chr17 59560463 59560463 C T rs7218485 TBX4 Synonymous SNV D408D 0.121 0.115 0.126 38 142 44 0.097 37 9 3 4 3 Benign 10.65 21240 chr16 1417791 1417791 T C rs113951440 UNKL Nonsynonymous SNV I51V 0.052 0.031 0.037 21 61 12 0.054 11 1 0 0 0 0.001 21241 chr5 77425028 77425028 A T rs6453373 AP3B1 Nonsynonymous SNV V536E 0.928 0.904 0.922 351 1090 347 0.9 271 507 157 124 158 Benign 10.84 21242 chr17 59560685 59560685 C T rs2270150 TBX4 Synonymous SNV V482V 0.135 0.135 0.143 67 158 52 0.172 42 14 3 2 5 Benign 12.65 21243 chr16 21994411 21994411 G A rs7282 UQCRC2 Synonymous SNV A427A 0.174 0.177 0.139 68 204 68 0.174 41 18 12 5 3 Benign 12.22 21244 chr16 15917197 15917197 G A rs1050111 MYH11 Synonymous SNV V139V 0.163 0.146 0.126 52 191 56 0.133 37 21 3 1 3 Benign 12.16 21245 chr5 16711087 16711087 C T rs26740 MYO10 Nonsynonymous SNV R700Q 0.034 0.026 0.037 10 40 10 0.026 11 2 1 1 0 22.7 21246 chr17 59760996 59760996 A G rs4986763 BRIP1 Synonymous SNV Y1137Y 0.61 0.607 0.582 237 716 233 0.608 171 225 68 51 69 Benign 2.738 21247 chr16 22087020 22087020 - TGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG rs777064731 MOSMO I119_G120insVILFCMAALIFPI 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 21248 chr5 77473165 77473165 A G rs4532349 AP3B1 Synonymous SNV N297N 0.184 0.188 0.207 74 216 72 0.19 61 18 7 3 7 Benign 13.11 21249 chr16 22144318 22144318 C T rs1105929 VWA3A Nonsynonymous SNV T657I 0.369 0.375 0.374 137 433 144 0.351 110 82 30 26 23 0.024 21250 chr17 59763347 59763347 A G rs4986764 BRIP1 Nonsynonymous SNV S919P 0.612 0.609 0.592 237 718 234 0.608 174 225 68 51 69 Benign 0.195 21251 chr16 15967469 15967469 C T rs144938295 FOPNL Synonymous SNV G43G 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 10.74 21252 chr15 91827264 91827264 C T rs2301664 SV2B Synonymous SNV H396H 0.142 0.112 0.119 58 167 43 0.149 35 12 1 2 2 10.57 21253 chr5 77784738 77784738 A G rs2241566 LHFPL2 Synonymous SNV N223N 0.807 0.797 0.799 309 948 306 0.792 235 380 122 93 120 0.314 21254 chr17 59763465 59763465 T C rs4986765 BRIP1 Synonymous SNV E879E 0.741 0.76 0.707 283 870 292 0.726 208 325 110 74 101 Benign 5.226 21255 chr5 78135201 78135201 C T rs25413 ARSB Synonymous SNV P397P 0.25 0.201 0.252 93 294 77 0.238 74 44 9 10 8 Benign 11.62 21256 chr17 5991344 5991344 C T rs2302836 WSCD1 Synonymous SNV H154H 0.594 0.529 0.605 233 697 203 0.597 178 204 48 57 65 16.15 21257 chr5 78181477 78181477 C T rs1065757 ARSB Nonsynonymous SNV V358M 0.352 0.417 0.384 145 413 160 0.372 113 85 31 20 23 Benign 26.7 21258 chr17 59955426 59955426 T G rs606072 INTS2 Nonsynonymous SNV N760H 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 10.55 21259 chr16 22177538 22177538 G A rs61998203 SDR42E2 Nonsynonymous SNV R212K 0.004 0 0.01 5 5 0 0.013 3 0 0 0 0 4.517 21260 chr16 22177599 22177599 T C rs7196190 SDR42E2 Synonymous SNV P232P 0.004 0 0.01 5 5 0 0.013 3 0 0 0 0 3.083 21261 chr17 60043884 60043884 G A rs671347 MED13 Synonymous SNV D1440D 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 11.09 21262 chr16 22178256 22178256 G A rs6497575 SDR42E2 Nonsynonymous SNV R295H 0.457 0.432 0.442 163 537 166 0.418 130 131 40 33 32 22.9 21263 chr5 78324352 78324352 A G rs1805074 DMGDH Nonsynonymous SNV S646P 0.307 0.281 0.35 124 360 108 0.318 103 53 17 18 22 Benign 16.69 21264 chr16 16173232 16173232 G T rs45511401 ABCC1 Nonsynonymous SNV G671V 0.056 0.039 0.041 21 66 15 0.054 12 0 1 0 0 26.2 21265 chr17 6012979 6012979 C T rs41314099 WSCD1 Nonsynonymous SNV T301I 0.009 0.008 0.017 3 10 3 0.008 5 0 0 0 0 33 21266 chr16 22192896 22192896 G A rs9930499 SDR42E2 Nonsynonymous SNV M447I 0.086 0.078 0.102 30 101 30 0.077 30 3 0 2 1 23.9 21267 chr5 78326750 78326750 G C rs1805073 DMGDH Nonsynonymous SNV A530G 0.307 0.284 0.347 124 360 109 0.318 102 53 17 18 22 Benign 13.95 21268 chr17 6014176 6014176 A G rs2302837 WSCD1 Synonymous SNV T365T 0.885 0.878 0.922 345 1039 337 0.885 271 460 151 125 151 5.708 21269 chr16 22237118 22237118 A G rs9935059 EEF2K Nonsynonymous SNV H23R 0.135 0.138 0.119 37 158 53 0.095 35 5 4 2 3 0.002 21270 chr17 60651696 60651714 TTTATGCTAGGCCCTCTTC - rs749060845 TLK2 P375_S377del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21271 chr17 60758273 60758273 G C rs2245463 MRC2 Synonymous SNV S862S 0.972 0.99 0.963 382 1141 380 0.979 283 554 188 137 187 7.583 21272 chr5 78340257 78340257 C G rs248385 DMGDH Synonymous SNV L288L 0.533 0.576 0.493 226 626 221 0.579 145 167 63 31 68 11.14 21273 chr16 16271409 16271409 G A rs9924755 ABCC6 Synonymous SNV A830A 0.13 0.117 0.153 59 153 45 0.151 45 10 4 4 6 Benign 9.564 21274 chr17 60766224 60766224 A G rs2465430 MRC2 Synonymous SNV A1079A 0.975 0.99 0.949 382 1145 380 0.979 279 558 188 135 187 0.475 21275 chr16 22237273 22237273 C G rs17841292 EEF2K Nonsynonymous SNV P75A 0.132 0.138 0.112 37 155 53 0.095 33 5 4 1 3 15.91 21276 chr5 78340286 78340286 A G rs532964 DMGDH Nonsynonymous SNV S279P 0.533 0.576 0.493 226 626 221 0.579 145 167 63 31 68 13.02 21277 chr17 60767015 60767015 G A rs2429387 MRC2 Nonsynonymous SNV R1156H 0.969 0.99 0.946 382 1138 380 0.979 278 551 188 133 187 18.22 21278 chr16 22262514 22262514 C A rs2303186 EEF2K Synonymous SNV G163G 0.434 0.391 0.357 158 509 150 0.405 105 115 30 20 32 16.8 21279 chr5 78351636 78351636 A C rs2253262 DMGDH Synonymous SNV G124G 0.616 0.682 0.585 259 723 262 0.664 172 223 91 48 91 Benign 2.335 21280 chr17 60769803 60769803 A G rs3826537 MRC2 Synonymous SNV Q1477Q 0.345 0.336 0.296 131 405 129 0.336 87 71 18 13 17 8.48 21281 chr5 78373431 78373431 C T rs682985 BHMT2 Synonymous SNV D54D 0.558 0.617 0.548 236 655 237 0.605 161 180 74 43 76 13.05 21282 chr17 60813627 60813627 G A rs2041283 MARCHF10 Synonymous SNV N534N 0.366 0.378 0.35 130 430 145 0.333 103 70 24 18 17 3.807 21283 chr5 78532658 78532658 C T rs3733893 JMY Nonsynonymous SNV A62V 0.348 0.349 0.381 163 408 134 0.418 112 71 22 15 34 23.1 21284 chr17 60814273 60814273 A G rs9891498 MARCHF10 Nonsynonymous SNV F319S 0.365 0.378 0.354 130 429 145 0.333 104 69 24 18 17 23.1 21285 chr16 1547477 1547477 T C rs2745108 TELO2 Synonymous SNV A266A 0.101 0.089 0.105 41 118 34 0.105 31 4 0 3 1 0.043 21286 chr5 31409252 31409252 A G rs2241337 DROSHA Synonymous SNV N1218N 0.232 0.24 0.224 88 272 92 0.226 66 23 14 5 11 7.921 21287 chr16 1555589 1555589 A G rs2248128 TELO2 Nonsynonymous SNV Q674R 0.221 0.198 0.214 80 259 76 0.205 63 32 14 15 10 3.587 21288 chr5 78596044 78596044 T C rs10514159 JMY Synonymous SNV D532D 0.6 0.599 0.558 213 704 230 0.546 164 209 65 39 59 1.802 21289 chr17 61559923 61559923 C T rs4309 ACE Synonymous SNV P405P 0.327 0.362 0.344 147 384 139 0.377 101 60 28 15 27 Benign 19.07 21290 chr5 31423007 31423007 T C rs2287584 DROSHA Synonymous SNV P1065P 0.262 0.271 0.252 103 308 104 0.264 74 33 18 6 13 0.953 21291 chr16 11836508 11836508 G A rs3743588 TXNDC11 Nonsynonymous SNV P27S 0.204 0.25 0.18 81 240 96 0.208 53 40 20 15 21 22.1 21292 chr16 1638000 1638000 C G rs4786350 IFT140 Nonsynonymous SNV R279P 0.027 0.039 0.024 14 32 15 0.036 7 1 0 1 0 Benign 0.226 21293 chr17 61562309 61562309 C T rs4316 ACE Synonymous SNV P27P 0.341 0.362 0.357 156 400 139 0.4 105 65 27 16 29 6.43 21294 chr5 78596521 78596521 C T rs12109473 JMY Synonymous SNV Y572Y 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 Benign 9.54 21295 chr17 61564052 61564052 A G rs4331 ACE Synonymous SNV A157A 0.341 0.362 0.364 155 400 139 0.397 107 65 27 16 28 Benign 2.253 21296 chr5 78596580 78596580 C T rs12109475 JMY Nonsynonymous SNV A592V 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 Benign 12.3 21297 chr17 61566031 61566031 G A rs4343 ACE Synonymous SNV T202T 0.364 0.385 0.384 163 427 148 0.418 113 77 31 19 31 Benign 6.87 21298 chr17 61573761 61573761 T C rs4362 ACE Synonymous SNV F555F 0.363 0.38 0.367 158 426 146 0.405 108 72 28 14 30 Benign 0.014 21299 chr16 19680546 19680546 T C rs957676 VPS35L Synonymous SNV D669D 0.312 0.307 0.299 125 366 118 0.321 88 48 18 18 22 2.561 21300 chr5 78981043 78981043 A C rs138787403 TENT2 Nonsynonymous SNV K425Q 0 0 0 0 0 0 0 0 0 0 0 0 11.14 21301 chr16 1706574 1706574 G A rs145013663 CRAMP1 Nonsynonymous SNV E606K 0.004 0.013 0.01 5 5 5 0.013 3 0 0 0 0 8.808 21302 chr17 61611423 61611423 T C rs7225568 KCNH6 Synonymous SNV D284D 0.641 0.633 0.646 268 753 243 0.687 190 236 81 61 90 0.012 21303 chr5 32074462 32074462 G A rs115304584 PDZD2 Nonsynonymous SNV A1084T 0.012 0.031 0.014 5 14 12 0.013 4 0 0 0 0 18.7 21304 chr17 61621410 61621410 G A rs117321085 KCNH6 Synonymous SNV K757K 0.031 0.023 0.048 22 36 9 0.056 14 1 0 0 1 2.27 21305 chr17 61623052 61623052 C T rs35819807 KCNH6 Nonsynonymous SNV T889M 0.277 0.216 0.238 127 325 83 0.326 70 43 12 9 23 1.011 21306 chr5 79028472 79028472 C T rs4704585 CMYA5 Nonsynonymous SNV A1295V 0.416 0.401 0.401 176 488 154 0.451 118 106 30 17 37 0.003 21307 chr5 32074509 32074509 G A rs2291113 PDZD2 Synonymous SNV T1099T 0.056 0.044 0.082 28 66 17 0.072 24 3 0 1 1 6.692 21308 chr17 61660890 61660890 G - rs398031306 DCAF7 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 21309 chr5 79028726 79028726 A G rs13158477 CMYA5 Nonsynonymous SNV I1380V 0.193 0.159 0.16 78 226 61 0.2 47 19 6 2 10 0.002 21310 chr16 2025411 2025411 G C rs12925447 TBL3 Synonymous SNV G259G 0.083 0.052 0.078 26 97 20 0.067 23 6 0 1 0 0.32 21311 chr17 617869 617869 G A rs11558129 VPS53 Synonymous SNV I27I 0.251 0.294 0.167 102 295 113 0.262 49 40 17 7 11 Benign 15.92 21312 chr5 32087808 32087808 G C rs3733720 PDZD2 Synonymous SNV G1418G 0.083 0.081 0.109 37 98 31 0.095 32 8 1 1 3 0.118 21313 chr16 2025602 2025602 A G rs2230086 TBL3 Nonsynonymous SNV Q293R 0.118 0.102 0.109 41 138 39 0.105 32 11 0 0 0 0.001 21314 chr17 61901197 61901197 T A rs2727288 FTSJ3 Nonsynonymous SNV S424C 0.595 0.599 0.599 232 698 230 0.595 176 207 68 47 67 20.9 21315 chr5 32090294 32090294 G A rs10066063 PDZD2 Nonsynonymous SNV R2247Q 0.081 0.078 0.116 38 95 30 0.097 34 7 1 1 3 8.338 21316 chr5 79029594 79029594 T C rs1019762 CMYA5 Nonsynonymous SNV L1669S 0.192 0.159 0.16 78 225 61 0.2 47 19 6 2 10 15.58 21317 chr16 2296927 2296927 G A rs112729404 ECI1 Nonsynonymous SNV T76M 0.016 0.023 0.017 17 19 9 0.044 5 0 0 0 0 14.02 21318 chr17 61903445 61903445 G C rs2584625 FTSJ3 Nonsynonymous SNV Q91E 0.595 0.596 0.599 233 698 229 0.597 176 207 67 47 67 6.619 21319 chr5 32093070 32093070 G A rs16889442 PDZD2 Synonymous SNV S2595S 0.08 0.078 0.116 35 94 30 0.09 34 7 1 1 3 8.835 21320 chr5 79030045 79030045 A G rs4639193 CMYA5 Synonymous SNV V1819V 0.417 0.401 0.405 176 490 154 0.451 119 107 30 18 37 2.071 21321 chr16 2026292 2026292 T C rs17604 TBL3 Synonymous SNV S423S 0.082 0.052 0.078 27 96 20 0.069 23 6 0 0 0 0.054 21322 chr16 16263663 16263663 G A rs2856585 ABCC6 Synonymous SNV P945P 0.049 0.036 0.041 14 57 14 0.036 12 2 0 1 0 Benign 2.27 21323 chr5 32093082 32093082 G T rs149447762 PDZD2 Synonymous SNV S2599S 0.015 0.01 0.007 5 18 4 0.013 2 0 0 0 0 2.761 21324 chr17 61908271 61908271 C T rs968719 PSMC5 Synonymous SNV L211L 0.595 0.596 0.599 233 698 229 0.597 176 207 67 47 67 Benign 12.79 21325 chr5 79086883 79086883 G A rs1129770 CMYA5 Nonsynonymous SNV R3927Q 0.22 0.177 0.153 63 258 68 0.162 45 24 2 0 7 34 21326 chr16 2026891 2026891 T C rs17605 TBL3 Nonsynonymous SNV S457P 0.082 0.052 0.078 27 96 20 0.069 23 6 0 0 0 2.132 21327 chr17 62007498 62007498 A G rs2070776 CD79B Synonymous SNV C122C 0.687 0.641 0.65 270 807 246 0.692 191 272 78 55 91 Benign 2.459 21328 chr17 62018773 62018773 T C rs2070720 SCN4A Synonymous SNV T1623T 0.414 0.359 0.388 153 486 138 0.392 114 105 30 20 30 Benign 0.002 21329 chr5 79351852 79351852 A T rs438042 THBS4 Synonymous SNV P88P 0.49 0.464 0.51 175 575 178 0.449 150 131 49 34 36 3.313 21330 chr15 90255284 90255284 A G rs112224433 WDR93 Nonsynonymous SNV I197V 0.04 0.023 0.031 16 47 9 0.041 9 2 0 0 2 0.001 21331 chr17 62019103 62019103 G T rs56342400 SCN4A Synonymous SNV I1513I 0.215 0.216 0.241 98 252 83 0.251 71 33 10 11 9 Benign 8.437 21332 chr16 2028677 2028677 A G rs34968293 TBL3 Synonymous SNV A806A 0.083 0.052 0.078 27 97 20 0.069 23 6 0 0 0 0.002 21333 chr5 79366874 79366874 C G rs199532352 THBS4 Nonsynonymous SNV Q440E 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 28 21334 chr17 62020348 62020348 T C rs2058194 SCN4A Nonsynonymous SNV N1376D 0.614 0.557 0.602 242 721 214 0.621 177 220 59 52 70 Benign 12.24 21335 chr16 2331430 2331430 A G rs149532 ABCA3 Synonymous SNV S1372S 0.87 0.872 0.878 348 1021 335 0.892 258 443 146 113 155 Benign 0.364 21336 chr16 2029152 2029152 G A rs12927376 NOXO1 Synonymous SNV C343C 0.078 0.042 0.014 25 91 16 0.064 4 6 0 0 0 0.966 21337 chr5 33461355 33461355 G A rs2270905 TARS Synonymous SNV P502P 0.247 0.266 0.187 99 290 102 0.254 55 37 12 9 8 13.63 21338 chr5 79368016 79368016 T C rs256437 CTD-2201I18.1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.48 21339 chr17 62041068 62041068 T C rs6504191 SCN4A Nonsynonymous SNV S524G 0.952 0.932 0.929 367 1118 358 0.941 273 532 166 127 172 Benign 0.027 21340 chr5 79439630 79439630 G A rs12652646 SERINC5 Synonymous SNV Y414Y 0.114 0.164 0.102 46 134 63 0.118 30 8 5 2 1 6.36 21341 chr16 2347859 2347859 G C rs150910102 ABCA3 Nonsynonymous SNV L654V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.8 21342 chr16 2035907 2035907 T C rs36041021 GFER Nonsynonymous SNV F166L 0.081 0.055 0.068 27 95 21 0.069 20 6 0 0 0 Benign 0.25 21343 chr5 79616083 79616083 G C rs1862136 SPZ1 Nonsynonymous SNV V17L 0.775 0.771 0.745 290 910 296 0.744 219 353 115 80 101 0.002 21344 chr17 62049204 62049204 G C rs146590697 SCN4A Synonymous SNV T163T 0.025 0.013 0.041 14 29 5 0.036 12 0 0 0 0 Benign/Likely benign 0.245 21345 chr16 1258033 1258033 G T rs41292285 CACNA1H Nonsynonymous SNV A1059S 0.02 0.008 0.017 10 23 3 0.026 5 0 0 0 0 Benign/Likely benign 7.796 21346 chr17 62078473 62078473 - GAGGAG PRR29 E97_M98insEE 0.013 0.003 0.007 1 15 1 0.003 2 0 0 0 0 21347 chr16 2035999 2035999 C T rs1802834 GFER Synonymous SNV R196R 0.081 0.055 0.071 27 95 21 0.069 21 6 0 0 0 Benign 18.48 21348 chr17 62125272 62125272 A G rs196923 ERN1 Synonymous SNV H825H 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 3.565 21349 chr5 79616278 79616278 A G rs139471643 SPZ1 Nonsynonymous SNV N82D 0.041 0.044 0.041 16 48 17 0.041 12 0 1 0 0 11.03 21350 chr17 62141455 62141455 A G rs187826 ERN1 Synonymous SNV I326I 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 9.608 21351 chr17 6330068 6330068 T C rs2292546 AIPL1 Synonymous SNV P154P 0.821 0.828 0.844 331 964 318 0.849 248 398 131 105 139 Benign/Likely benign 0.172 21352 chr16 19067976 19067976 G C rs140650311 TMC7 Nonsynonymous SNV V320L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.005 21353 chr17 6331803 6331803 T C rs8075035 AIPL1 Synonymous SNV L40L 0.728 0.716 0.748 279 855 275 0.715 220 308 96 79 97 Benign/Likely benign 7.431 21354 chr5 79733079 79733079 T C rs2544600 ZFYVE16 Nonsynonymous SNV I192T 0.861 0.867 0.878 331 1011 333 0.849 258 438 146 114 140 0.001 21355 chr15 99678257 99678257 G A rs28617660 TTC23 Synonymous SNV D434D 0.102 0.086 0.129 38 120 33 0.097 38 5 3 2 0 0.401 21356 chr5 33989518 33989518 C T rs2278008 AMACR Nonsynonymous SNV E277K 0.702 0.745 0.66 269 824 286 0.69 194 281 107 62 92 Benign 19.02 21357 chr16 1823444 1823444 C G rs761065 EME2 Synonymous SNV V72V 0.549 0.526 0.582 220 645 202 0.564 171 223 69 59 73 5.861 21358 chr17 63533768 63533768 G A rs1133683 AXIN2 Synonymous SNV P462P 0.641 0.63 0.605 258 753 242 0.662 178 243 77 63 87 Benign 7.2 21359 chr15 90347783 90347783 C T rs17240240 ANPEP Synonymous SNV T321T 0.076 0.06 0.099 22 89 23 0.056 29 4 1 1 1 13.65 21360 chr17 63533789 63533789 T C rs9915936 AXIN2 Synonymous SNV P455P 0.927 0.922 0.932 370 1088 354 0.949 274 505 163 129 175 Benign 0.887 21361 chr16 19070965 19070965 G A rs73528950 TMC7 Nonsynonymous SNV R752H 0.055 0.042 0.051 17 64 16 0.044 15 1 0 0 0 0.012 21362 chr5 79734297 79734297 T C rs259028 ZFYVE16 Nonsynonymous SNV I598T 0.894 0.883 0.918 344 1050 339 0.882 270 476 149 125 151 0.824 21363 chr15 90347792 90347792 C A rs41276916 ANPEP Synonymous SNV L318L 0.076 0.06 0.095 22 89 23 0.056 28 4 1 1 1 9.301 21364 chr17 63534420 63534420 G A rs141697521 AXIN2 Synonymous SNV P367P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 8.874 21365 chr17 63554591 63554591 G A rs2240308 AXIN2 Nonsynonymous SNV P50S 0.452 0.43 0.429 172 531 165 0.441 126 122 32 23 34 Benign 0.023 21366 chr16 23607504 23607504 G C rs466719 NDUFAB1 Synonymous SNV L36L 0.08 0.094 0.054 32 94 36 0.082 16 2 2 0 0 2.009 21367 chr5 79734409 79734409 G A rs259029 ZFYVE16 Synonymous SNV S635S 0.91 0.922 0.939 352 1068 354 0.903 276 488 164 130 159 8.665 21368 chr17 6364753 6364753 A G rs11654099 PITPNM3 Synonymous SNV D774D 0.893 0.88 0.918 355 1048 338 0.91 270 468 154 125 161 Benign 2.634 21369 chr5 34004707 34004707 C T rs10941112 AMACR Nonsynonymous SNV G175D 0.491 0.518 0.466 193 577 199 0.495 137 141 49 29 49 Benign 32 21370 chr5 79735858 79735858 A G rs168939 ZFYVE16 Nonsynonymous SNV Y809C 0.861 0.867 0.83 331 1011 333 0.849 244 438 146 111 140 7.742 21371 chr16 23641340 23641340 G A rs141458731 PALB2 Nonsynonymous SNV A712V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign/Likely benign 0.353 21372 chr15 90349461 90349461 G A rs41276922 ANPEP Synonymous SNV D118D 0.07 0.055 0.102 23 82 21 0.059 30 3 1 0 1 12.18 21373 chr17 63695 63695 C T rs142240545 RPH3AL Nonsynonymous SNV R270Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.996 21374 chr5 79745469 79745469 A G rs249038 ZFYVE16 Nonsynonymous SNV S1055G 0.894 0.883 0.891 344 1050 339 0.882 262 476 149 123 151 0.131 21375 chr16 19297219 19297219 T G rs179196 CLEC19A Nonsynonymous SNV S16A 0.102 0.081 0.119 45 120 31 0.115 35 8 1 2 1 8.132 21376 chr5 34008100 34008100 C T rs3195676 AMACR Nonsynonymous SNV V9M 0.502 0.526 0.469 196 589 202 0.503 138 141 50 29 48 Benign 10.32 21377 chr17 64208285 64208285 C G rs1801690 APOH Nonsynonymous SNV W335S 0.043 0.07 0.058 30 50 27 0.077 17 2 3 1 2 24.7 21378 chr16 23646191 23646191 T C rs152451 PALB2 Nonsynonymous SNV Q559R 0.102 0.104 0.078 42 120 40 0.108 23 3 3 0 0 Benign/Likely benign 0.001 21379 chr5 79815658 79815658 T C rs369998 FAM151B Nonsynonymous SNV I155T 0.784 0.753 0.772 324 921 289 0.831 227 362 107 87 135 12.82 21380 chr5 34757666 34757666 G A rs17521570 RAI14 Nonsynonymous SNV A36T 0.131 0.12 0.143 48 154 46 0.123 42 8 5 2 4 22.4 21381 chr17 64216815 64216815 C T rs8178847 APOH Nonsynonymous SNV R154H 0.073 0.091 0.088 36 86 35 0.092 26 3 3 2 3 8.461 21382 chr16 2367336 2367336 G A rs13332514 ABCA3 Synonymous SNV F353F 0.084 0.109 0.078 38 99 42 0.097 23 4 1 1 2 Benign 9.446 21383 chr5 79855372 79855372 A G rs32857 ANKRD34B Nonsynonymous SNV L156S 0.844 0.859 0.874 322 991 330 0.826 257 418 144 111 132 0.354 21384 chr15 90627553 90627553 G A rs118053940 IDH2 Nonsynonymous SNV T305M 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 Benign/Likely benign 16.64 21385 chr16 23677006 23677006 A G rs35586 DCTN5 Synonymous SNV P136P 0.203 0.232 0.19 86 238 89 0.221 56 25 12 8 8 10.71 21386 chr17 64216854 64216854 A G rs52797880 APOH Nonsynonymous SNV I141T 0.073 0.091 0.088 36 86 35 0.092 26 3 3 2 3 0.003 21387 chr5 79950700 79950717 GCAGCGGCTGCAGCGGCC - rs201874762 MSH3 A57_A62del 0.336 0.31 0.34 135 395 119 0.346 100 75 24 18 29 21388 chr16 23711925 23711925 C G rs26764 ERN2 Nonsynonymous SNV S435T 0.297 0.302 0.245 115 349 116 0.295 72 52 18 16 16 0.453 21389 chr15 90763066 90763066 C T rs201393019 SEMA4B Nonsynonymous SNV A65V 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 17.41 21390 chr5 79950742 79950750 CCCCCAGCT - rs144629981 MSH3 P67_P69del 0.334 0.305 0.34 132 392 117 0.338 100 80 27 18 29 21391 chr17 64783081 64783081 G A rs6504459 PRKCA Nonsynonymous SNV V568I 0.976 0.987 0.976 383 1146 379 0.982 287 561 187 140 188 16.45 21392 chr5 79950781 79950781 A G rs1650697 MSH3 Nonsynonymous SNV I79V 0.643 0.56 0.704 263 755 215 0.674 207 335 91 74 117 Benign 0.001 21393 chr16 24166130 24166130 T C rs432998 PRKCB Synonymous SNV P397P 0.346 0.396 0.357 133 406 152 0.341 105 70 28 18 22 3.443 21394 chr17 648186 648186 G A rs7813 GEMIN4 Nonsynonymous SNV R1033C 0.628 0.625 0.65 227 737 240 0.582 191 230 76 68 63 28.4 21395 chr5 80149981 80149981 A G rs184967 MSH3 Nonsynonymous SNV Q949R 0.823 0.836 0.782 319 966 321 0.818 230 400 134 93 131 Benign 4.933 21396 chr16 20638576 20638576 A T rs1692729 ACSM1 Synonymous SNV G454G 0.372 0.346 0.388 155 437 133 0.397 114 86 20 21 32 0.004 21397 chr16 24570844 24570844 G A rs45591839 RBBP6 Synonymous SNV G231G 0.055 0.057 0.065 16 64 22 0.041 19 4 1 0 1 6.002 21398 chr17 648498 648498 C T rs2740349 GEMIN4 Nonsynonymous SNV D929N 0.889 0.878 0.83 335 1044 337 0.859 244 468 146 101 141 0.358 21399 chr16 11001969 11001969 G T rs113889330 CIITA Nonsynonymous SNV G874W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 21400 chr16 20648702 20648702 G A rs151328 ACSM1 Synonymous SNV Y396Y 0.233 0.19 0.221 112 274 73 0.287 65 23 7 8 18 0.536 21401 chr5 80168937 80168937 G A rs26279 MSH3 Nonsynonymous SNV A1045T 0.664 0.63 0.629 272 779 242 0.697 185 255 74 54 95 Benign 7.28 21402 chr17 64873552 64873552 G A rs11652480 CACNG5 Synonymous SNV L34L 0.139 0.143 0.156 62 163 55 0.159 46 12 4 5 8 10.6 21403 chr16 24801979 24801979 C T rs13336754 TNRC6A Synonymous SNV S672S 0.217 0.273 0.245 83 255 105 0.213 72 27 15 8 10 10.2 21404 chr16 1447278 1447278 A G rs61738727 UNKL Synonymous SNV S251S 0.258 0.25 0.068 82 303 96 0.21 20 122 39 8 35 2.041 21405 chr16 20796338 20796338 G A rs147257547 ACSM3 Nonsynonymous SNV S351N 0.005 0 0 0 6 0 0 0 0 0 0 0 27.6 21406 chr17 649232 649232 C T rs3744741 GEMIN4 Nonsynonymous SNV R684Q 0.17 0.161 0.15 63 200 62 0.162 44 19 6 4 6 0.028 21407 chr5 80409526 80409526 T C rs34193571 RASGRF2 Nonsynonymous SNV S753P 0.158 0.174 0.109 64 185 67 0.164 32 11 6 0 10 15.2 21408 chr17 6493198 6493198 T C rs1443417 KIAA0753 Nonsynonymous SNV Q597R 0.525 0.589 0.554 214 616 226 0.549 163 158 64 51 61 0.073 21409 chr5 80409729 80409729 T C rs10942942 RASGRF2 Synonymous SNV S820S 0.599 0.661 0.558 242 703 254 0.621 164 215 84 41 74 1.093 21410 chr16 1997004 1997004 C T rs113956264 RPL3L Nonsynonymous SNV V262M 0.022 0.026 0.017 8 26 10 0.021 5 0 0 0 0 27.2 21411 chr15 90784632 90784632 G T rs144466387 GDPGP1 Nonsynonymous SNV W164C 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 24.4 21412 chr5 80736444 80736444 A G rs9596 SSBP2 Synonymous SNV G267G 0.311 0.266 0.323 111 365 102 0.285 95 59 16 11 17 11.61 21413 chr17 649547 649547 G C rs910925 GEMIN4 Nonsynonymous SNV A579G 0.626 0.625 0.646 227 735 240 0.582 190 229 76 67 63 26.3 21414 chr16 1389222 1389222 C T rs61742684 BAIAP3 Synonymous SNV L93L 0.057 0.065 0.092 32 67 25 0.082 27 2 0 1 1 5.449 21415 chr5 81354389 81354389 T C rs3734114 ATG10 Nonsynonymous SNV S62P 0.217 0.234 0.224 82 255 90 0.21 66 23 9 10 10 3.933 21416 chr17 649935 649935 G C rs2740348 GEMIN4 Nonsynonymous SNV Q450E 0.888 0.878 0.83 336 1043 337 0.862 244 468 146 101 142 0.001 21417 chr16 2009697 2009697 C T rs2302175 NDUFB10 Synonymous SNV I24I 0.053 0.049 0.041 19 62 19 0.049 12 2 0 0 1 15.2 21418 chr16 21053514 21053514 C G rs193109749 DNAH3 Synonymous SNV L1445L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 9.998 21419 chr5 81549216 81549216 C T rs1864183 ATG10 Nonsynonymous SNV T212M 0.464 0.521 0.493 193 545 200 0.495 145 130 48 33 49 11.23 21420 chr16 19548116 19548116 G A rs7190666 CCP110 Nonsynonymous SNV M375I 0.16 0.18 0.18 69 188 69 0.177 53 13 4 7 7 Benign 25.3 21421 chr17 65026886 65026886 C T rs11649752 CACNG4 Synonymous SNV T250T 0.034 0.052 0.051 23 40 20 0.059 15 1 1 2 2 14.94 21422 chr16 27238110 27238110 C T rs1127228 NSMCE1 Synonymous SNV E177E 0.355 0.365 0.381 118 417 140 0.303 112 74 24 28 14 14.27 21423 chr16 21185384 21185384 G A rs1046480 TMEM159 Nonsynonymous SNV G107S 0.26 0.227 0.265 79 305 87 0.203 78 40 4 12 10 13.94 21424 chr16 1506130 1506130 C T rs41286695 CLCN7 Synonymous SNV A276A 0.05 0.055 0.034 23 59 21 0.059 10 0 0 1 0 Benign 12.35 21425 chr17 65104666 65104666 T G rs11657929 HELZ Synonymous SNV R1557R 0.564 0.589 0.497 218 662 226 0.559 146 189 61 35 59 6.077 21426 chr5 81549240 81549240 C A rs1864182 ATG10 Nonsynonymous SNV P220H 0.514 0.56 0.537 216 603 215 0.554 158 158 53 41 60 14.6 21427 chr17 65104743 65104743 G A rs11653020 HELZ Nonsynonymous SNV A1531V 0.923 0.924 0.908 359 1084 355 0.921 267 498 163 122 164 11.23 21428 chr16 19548290 19548290 G A rs7191012 CCP110 Synonymous SNV A433A 0.159 0.18 0.177 69 187 69 0.177 52 13 4 7 7 Benign 1.815 21429 chr16 14540919 14540919 C T rs35722504 PARN Nonsynonymous SNV V518I 0.032 0.047 0.02 14 37 18 0.036 6 1 0 0 0 Benign 15.24 21430 chr17 6511781 6511781 A G rs4796519 KIAA0753 Synonymous SNV A273A 0.514 0.576 0.554 213 603 221 0.546 163 158 63 51 62 0.541 21431 chr5 82648943 82648943 G A rs1805377 XRCC4 0.117 0.086 0.116 40 137 33 0.103 34 14 3 1 2 1.684 21432 chr17 6513329 6513329 G A rs2304977 KIAA0753 Nonsynonymous SNV P267L 0.313 0.362 0.347 144 368 139 0.369 102 60 25 23 28 29.5 21433 chr15 90903502 90903502 G A rs11854320 ZNF774 Nonsynonymous SNV V147I 0.094 0.083 0.16 46 110 32 0.118 47 5 1 2 1 4.678 21434 chr16 21217061 21217061 G A rs16971234 ZP2 Synonymous SNV D173D 0.158 0.146 0.133 53 186 56 0.136 39 14 3 4 5 2.514 21435 chr5 35871273 35871273 C T rs2228141 IL7R Synonymous SNV H165H 0.108 0.112 0.122 54 127 43 0.138 36 2 1 1 2 Benign 12.74 21436 chr5 82648977 82648977 T G rs1056503 XRCC4 Synonymous SNV S309S 0.129 0.086 0.122 43 151 33 0.11 36 14 3 1 2 0.524 21437 chr17 6515387 6515387 A G rs2289642 KIAA0753 Nonsynonymous SNV L167P 0.523 0.589 0.554 214 614 226 0.549 163 156 64 51 61 0.061 21438 chr5 82786194 82786194 T C rs12332199 VCAN Synonymous SNV T116T 0.355 0.318 0.313 129 417 122 0.331 92 65 16 18 17 Benign 0.061 21439 chr16 28123226 28123226 G A rs205384 XPO6 Synonymous SNV H751H 0.295 0.294 0.323 123 346 113 0.315 95 50 15 13 14 11.14 21440 chr16 2812647 2812647 C T rs2240142 SRRM2 Synonymous SNV S706S 0.187 0.172 0.187 89 219 66 0.228 55 25 8 5 2 4.117 21441 chr5 82789647 82789647 A G rs4470745 VCAN Synonymous SNV V215V 0.36 0.331 0.33 129 423 127 0.331 97 71 20 19 20 Benign 10.77 21442 chr17 6515454 6515454 C T rs2289643 KIAA0753 Nonsynonymous SNV D145N 0.488 0.557 0.52 201 573 214 0.515 153 135 59 46 52 10.72 21443 chr5 82833145 82833145 G A rs2548541 VCAN Synonymous SNV Q454Q 0.704 0.706 0.673 279 826 271 0.715 198 289 99 69 100 Benign 8.869 21444 chr17 6524298 6524298 T A rs9889363 KIAA0753 Nonsynonymous SNV E76D 0.316 0.365 0.357 144 371 140 0.369 105 61 25 24 28 27 21445 chr16 2136842 2136842 C T rs45517384 TSC2 Synonymous SNV S1409S 0.014 0.016 0.007 9 16 6 0.023 2 0 0 0 0 Benign 9.994 21446 chr5 82833369 82833369 A G rs309559 VCAN Nonsynonymous SNV K529R 0.544 0.552 0.486 226 639 212 0.579 143 167 61 36 66 Benign 0.037 21447 chr16 2817451 2817451 G T rs145694005 SRRM2 Nonsynonymous SNV A2308S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 21448 chr17 6531648 6531648 A G rs2072149 KIAA0753 Synonymous SNV S169S 0.525 0.594 0.554 214 616 228 0.549 163 157 65 51 61 0.292 21449 chr16 22019647 22019647 G - rs201044196 MOSMO G9Dfs*71 0.055 0.063 0.034 15 65 24 0.038 10 0 0 0 0 21450 chr16 1484536 1484536 C T rs117318560 CCDC154 0.011 0.016 0.014 1 13 6 0.003 4 0 0 0 0 23.1 21451 chr16 1536323 1536323 A G rs2667671 PTX4 Synonymous SNV L347L 0.187 0.182 0.245 78 219 70 0.2 72 22 5 8 8 0.006 21452 chr17 65362552 65362552 T A rs11079691 PSMD12 Synonymous SNV L28L 0.349 0.375 0.32 136 410 144 0.349 94 74 26 23 24 11.17 21453 chr5 82834246 82834246 G A VCAN Synonymous SNV E821E 0.007 0 0 1 8 0 0.003 0 0 0 0 0 5.283 21454 chr15 91504900 91504900 C T rs77876906 RCCD1 Synonymous SNV R344R 0.004 0.005 0.01 8 5 2 0.021 3 0 0 0 0 Benign 9.181 21455 chr17 6538355 6538355 G A rs2301873 KIAA0753 Synonymous SNV S23S 0.474 0.411 0.442 174 557 158 0.446 130 128 30 34 41 3.771 21456 chr5 82834299 82834299 G A rs188703 VCAN Nonsynonymous SNV R839H 0.45 0.456 0.405 194 528 175 0.497 119 115 46 25 47 Benign 13.49 21457 chr16 1536380 1536380 G T rs2667672 PTX4 Nonsynonymous SNV L328M 0.187 0.182 0.245 78 219 70 0.2 72 22 5 8 8 1.896 21458 chr17 6555546 6555546 - G rs397697335 C17orf100 Frameshift insertion P106Afs*14 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 21459 chr17 65955758 65955758 - CCTCCAGCC rs139709271 BPTF P2684_P2685insAPP 0.193 0.232 0.197 71 226 89 0.182 58 24 8 9 5 21460 chr16 2035868 2035868 C T rs1046502 GFER Synonymous SNV L153L 0.17 0.18 0.143 57 200 69 0.146 42 13 6 3 6 Benign 5.473 21461 chr5 82834630 82834630 T C rs309557 VCAN Synonymous SNV G949G 0.546 0.557 0.493 225 641 214 0.577 145 167 62 36 66 Benign 8.416 21462 chr16 22177490 22177490 A T rs79651149 SDR42E2 Nonsynonymous SNV E196V 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 2.313 21463 chr17 66039350 66039350 A G rs4638 KPNA2 Synonymous SNV V267V 0.651 0.651 0.636 271 764 250 0.695 187 257 76 61 96 9.539 21464 chr16 1536499 1536499 G T rs2745097 PTX4 Nonsynonymous SNV A288D 0.187 0.182 0.235 78 219 70 0.2 69 22 5 6 8 23.3 21465 chr16 28328916 28328916 C T rs113394773 SBK1 Synonymous SNV D68D 0.083 0.068 0.071 38 97 26 0.097 21 4 0 1 1 8.585 21466 chr15 91509858 91509858 A T rs79383275 PRC1-AS1 0.009 0.008 0.014 11 11 3 0.028 4 0 0 0 1 2.041 21467 chr17 66364691 66364691 C G rs1558876 ARSG, ARSG Nonsynonymous SNV T220S 0.308 0.336 0.333 130 362 129 0.333 98 82 30 13 30 9.695 21468 chr5 82835545 82835545 A G rs160279 VCAN Synonymous SNV R1254R 0.545 0.552 0.49 226 640 212 0.579 144 168 61 36 66 Benign 0.568 21469 chr16 20335325 20335325 G A rs12930599 GP2 Synonymous SNV D116D 0.182 0.198 0.143 79 214 76 0.203 42 19 7 3 10 0.354 21470 chr5 82835724 82835724 T A rs160278 VCAN Nonsynonymous SNV F1314Y 0.529 0.547 0.483 222 621 210 0.569 142 156 61 35 65 Benign 0.002 21471 chr17 66364749 66364749 T C rs1558877 ARSG Synonymous SNV P239P 0.5 0.544 0.48 202 587 209 0.518 141 143 59 31 49 0.047 21472 chr17 66364804 66364804 T C rs1558878 ARSG Nonsynonymous SNV W258R 0.441 0.487 0.439 182 518 187 0.467 129 112 47 26 40 0.165 21473 chr16 28507855 28507855 G A rs200832612 APOBR Nonsynonymous SNV R498K 0.007 0 0 3 8 0 0.008 0 0 0 0 0 0.058 21474 chr5 82837631 82837631 G T rs160277 VCAN Nonsynonymous SNV D1950Y 0.449 0.448 0.401 194 527 172 0.497 118 115 44 24 47 Benign 23.3 21475 chr16 1537601 1537601 A G rs2667674 PTX4 Nonsynonymous SNV L166P 0.081 0.076 0.119 34 95 29 0.087 35 3 2 0 2 22.8 21476 chr17 66391276 66391276 G A rs9972951 ARSG Nonsynonymous SNV R369H 0.06 0.055 0.078 22 71 21 0.056 23 1 0 1 0 9.478 21477 chr5 37294473 37294473 T C rs1045908 NUP155 Synonymous SNV L1232L 0.323 0.313 0.337 128 379 120 0.328 99 60 18 13 24 7.382 21478 chr5 82875800 82875800 C T rs308365 VCAN Synonymous SNV V553V 0.986 0.971 0.976 386 1158 373 0.99 287 571 181 140 191 Benign 8.479 21479 chr17 66449122 66449122 G A rs883541 WIPI1 Nonsynonymous SNV T31I 0.75 0.745 0.803 299 881 286 0.767 236 335 106 96 116 15.93 21480 chr5 82940273 82940273 C G rs2242128 HAPLN1 Synonymous SNV G228G 0.789 0.789 0.786 312 926 303 0.8 231 361 119 90 127 10.33 21481 chr5 83360520 83360520 C T rs2269287 EDIL3 Synonymous SNV S307S 0.112 0.089 0.082 36 131 34 0.092 24 6 1 1 0 14.29 21482 chr17 66533655 66533655 A G rs2907373 FAM20A Nonsynonymous SNV L530S 0.684 0.69 0.684 270 803 265 0.692 201 273 89 69 90 Benign 0.054 21483 chr5 89769728 89769728 T C rs2162986 MBLAC2 Nonsynonymous SNV T128A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.996 21484 chr16 23079408 23079408 T C rs114976439 USP31 Nonsynonymous SNV S1340G 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 15.45 21485 chr17 66547249 66547249 G A rs9789047 PRKAR1A Nonsynonymous SNV S333N 0.161 0.154 0.163 52 189 59 0.133 48 18 7 5 3 0.017 21486 chr17 6663894 6663894 G A rs2271232 XAF1 Nonsynonymous SNV A91T 0.022 0.023 0.034 3 26 9 0.008 10 0 0 1 0 7.588 21487 chr5 38412674 38412674 C T rs16903965 EGFLAM Nonsynonymous SNV T239M 0.097 0.086 0.105 32 114 33 0.082 31 4 2 1 1 22.9 21488 chr5 89820984 89820984 T C rs10069050 LYSMD3 Synonymous SNV E41E 0.583 0.557 0.599 220 685 214 0.564 176 198 61 58 56 7.299 21489 chr5 89943571 89943571 G T rs2366777 ADGRV1 Nonsynonymous SNV L1093F 0.681 0.695 0.697 264 800 267 0.677 205 271 93 72 86 Benign 8.197 21490 chr17 6663895 6663895 C G rs2271231 XAF1 Nonsynonymous SNV A91G 0.33 0.313 0.323 132 387 120 0.338 95 53 25 13 22 3.337 21491 chr17 6684003 6684003 C G rs17731806 FBXO39 Synonymous SNV S272S 0.04 0.044 0.061 23 47 17 0.059 18 1 0 0 0 8.334 21492 chr16 23480294 23480294 C T rs35347972 GGA2 Synonymous SNV P548P 0.01 0.01 0.017 8 12 4 0.021 5 0 0 0 0 19.72 21493 chr17 66872802 66872802 G C rs1481 ABCA8 Synonymous SNV P1374P 0.795 0.807 0.813 320 933 310 0.821 239 371 124 94 134 0.936 21494 chr5 89953849 89953849 C T rs17543819 ADGRV1 Synonymous SNV P1502P 0.135 0.13 0.129 66 159 50 0.169 38 10 1 3 5 Benign 11.03 21495 chr17 66887675 66887675 C T rs34001235 ABCA8 Synonymous SNV S993S 0.043 0.039 0.061 17 51 15 0.044 18 1 1 1 1 11.16 21496 chr5 89979589 89979589 G A rs4916684 ADGRV1 Nonsynonymous SNV V1951I 0.681 0.693 0.694 265 799 266 0.679 204 270 94 71 87 Benign 0.006 21497 chr17 66985992 66985992 T G rs2302294 ABCA9 Nonsynonymous SNV K1306T 0.661 0.646 0.65 253 776 248 0.649 191 260 74 61 80 25.1 21498 chr16 20635418 20635418 C T rs3743690 ACSM1 Synonymous SNV K549K 0.139 0.156 0.16 44 163 60 0.113 47 14 4 4 2 10.97 21499 chr5 89979698 89979698 C T rs4916685 ADGRV1 Nonsynonymous SNV P1987L 0.317 0.354 0.279 123 372 136 0.315 82 52 19 8 15 Benign 23.6 21500 chr17 67028260 67028260 T C rs2302291 ABCA9 Synonymous SNV K478K 0.709 0.69 0.68 277 832 265 0.71 200 295 87 67 96 0.751 21501 chr17 67031457 67031457 C T rs1860447 ABCA9 Nonsynonymous SNV R353H 0.942 0.956 0.929 366 1106 367 0.938 273 522 175 126 171 10.9 21502 chr16 28944396 28944396 C G rs2904880 CD19 Nonsynonymous SNV L174V 0.802 0.776 0.81 303 942 298 0.777 238 382 117 99 116 Benign 1.937 21503 chr16 20636814 20636814 G A rs2301672 ACSM1 Synonymous SNV S486S 0.139 0.156 0.163 44 163 60 0.113 48 14 4 4 2 4.507 21504 chr5 89985882 89985882 A G rs10037067 ADGRV1 Nonsynonymous SNV Y2232C 0.295 0.318 0.276 117 346 122 0.3 81 52 19 8 15 Benign 26.9 21505 chr17 67101718 67101718 C T rs7212506 ABCA6 Nonsynonymous SNV M875I 0.849 0.859 0.929 342 997 330 0.877 273 483 160 128 164 0.004 21506 chr5 39119723 39119723 C A rs379707 FYB1 Nonsynonymous SNV V672F 0.582 0.612 0.605 261 683 235 0.669 178 257 88 65 102 1.634 21507 chr16 28986603 28986603 A G rs141720636 SPNS1 Nonsynonymous SNV Q44R 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 14.9 21508 chr5 89988504 89988504 A G rs2366926 ADGRV1 Nonsynonymous SNV N2345S 0.304 0.346 0.276 121 357 133 0.31 81 48 19 8 14 Benign 24.6 21509 chr17 67108362 67108362 C G rs9282553 ABCA6 Nonsynonymous SNV M698I 0.06 0.036 0.058 20 70 14 0.051 17 2 0 0 0 7.504 21510 chr16 2070200 2070200 G C rs11248906 NPW Nonsynonymous SNV E100Q 0.202 0.206 0.17 82 237 79 0.21 50 32 10 6 9 5.839 21511 chr5 39202820 39202820 C T rs370543019 FYB1 Synonymous SNV P91P 0 0 0 2 0 0 0.005 0 0 0 0 0 12.99 21512 chr16 28993369 28993369 C T rs61747536 SPNS1 Synonymous SNV S319S 0.024 0.029 0.007 7 28 11 0.018 2 1 0 0 0 18.29 21513 chr17 67145191 67145192 GA - rs3842375 ABCA10 Q1506Gfs*12 0.05 0.036 0.048 18 59 14 0.046 14 1 0 0 0 21514 chr5 39364554 39364554 G A rs700233 C9 Nonsynonymous SNV R5W 0.487 0.474 0.49 197 572 182 0.505 144 127 41 38 48 Benign 6.619 21515 chr5 89989779 89989779 G A rs16876822 ADGRV1 Synonymous SNV E2402E 0.304 0.349 0.276 121 357 134 0.31 81 48 19 8 14 Benign 6.931 21516 chr16 2070568 2070568 A C rs2286472 NPW Nonsynonymous SNV D149A 0.33 0.341 0.34 131 388 131 0.336 100 67 24 18 21 0.004 21517 chr17 67149973 67149973 G A rs10491178 ABCA10 Stop gain R1322X 0.051 0.036 0.051 18 60 14 0.046 15 1 0 0 0 28 21518 chr16 24788423 24788434 GCAGCCACAGCC - rs71156436 TNRC6A P115_Q118del 0.179 0.174 0.207 60 210 67 0.154 61 20 4 11 5 21519 chr5 89990324 89990324 A G rs1878878 ADGRV1 Nonsynonymous SNV N2584S 0.681 0.695 0.694 265 800 267 0.679 204 271 94 71 87 Benign 8.317 21520 chr16 24788645 24788645 T A rs11639856 TNRC6A Nonsynonymous SNV N185K 0.179 0.174 0.211 60 210 67 0.154 62 21 4 11 5 9.806 21521 chr17 67150118 67150118 C T rs16973656 ABCA10 Synonymous SNV R1273R 0.051 0.036 0.048 18 60 14 0.046 14 1 0 0 0 9.023 21522 chr17 67190537 67190540 ACAG - rs113082690 ABCA10 S444Ffs*17 0.051 0.036 0.048 18 60 14 0.046 14 1 0 0 0 21523 chr5 40853048 40853048 C T rs16870407 CARD6 Synonymous SNV S538S 0.094 0.094 0.078 29 110 36 0.074 23 4 0 1 0 1.677 21524 chr5 90020923 90020923 T G rs16869042 ADGRV1 Synonymous SNV P3309P 0.29 0.328 0.221 127 340 126 0.326 65 53 19 8 16 Benign 10.49 21525 chr16 1270641 1270641 G A CACNA1H Nonsynonymous SNV G2231S 0.003 0 0 0 3 0 0 0 0 0 0 0 5.5 21526 chr17 67212031 67212031 A G rs11077414 ABCA10 Synonymous SNV Y261Y 0.721 0.734 0.684 290 846 282 0.744 201 307 104 68 107 0.006 21527 chr16 24801737 24801737 G A rs6497759 TNRC6A Nonsynonymous SNV A592T 0.175 0.164 0.211 53 206 63 0.136 62 19 4 11 4 0.009 21528 chr17 67212423 67212423 G A rs9909216 ABCA10 Nonsynonymous SNV P203S 0.736 0.747 0.711 293 864 287 0.751 209 321 108 72 110 0.059 21529 chr5 90024735 90024735 G A rs2366928 ADGRV1 Nonsynonymous SNV E3471K 0.706 0.727 0.755 273 829 279 0.7 222 295 103 87 89 Benign 16.35 21530 chr16 24802325 24802325 C T rs3803716 TNRC6A Nonsynonymous SNV P788S 0.175 0.164 0.211 53 206 63 0.136 62 19 4 11 4 10.92 21531 chr17 67267317 67267317 T C rs557491 ABCA5 Nonsynonymous SNV M960V 0.422 0.393 0.374 152 495 151 0.39 110 113 28 18 27 0.008 21532 chr16 2083358 2083358 A G rs11544570 SLC9A3R2 Synonymous SNV A2A 0.179 0.195 0.034 69 210 75 0.177 10 25 9 3 7 2.102 21533 chr5 90052289 90052289 G A rs10062026 ADGRV1 Nonsynonymous SNV E3867K 0.273 0.32 0.286 120 321 123 0.308 84 37 15 12 16 Benign 16.64 21534 chr5 40959622 40959622 C A rs121964920 C7 Nonsynonymous SNV R521S 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 Pathogenic 31 21535 chr17 67273882 67273882 C A rs536009 ABCA5 Nonsynonymous SNV A832S 0.862 0.901 0.901 355 1012 346 0.91 265 438 155 120 161 9.296 21536 chr5 90052372 90052372 C T rs2438349 ADGRV1 Synonymous SNV P3894P 0.438 0.474 0.435 186 514 182 0.477 128 97 36 29 41 Benign 13.06 21537 chr17 67290840 67290840 T C rs17686569 ABCA5 Nonsynonymous SNV Q484R 0.127 0.081 0.088 28 149 31 0.072 26 13 1 1 1 14.5 21538 chr5 90079820 90079820 A G rs17554631 ADGRV1 Synonymous SNV T4533T 0.201 0.18 0.153 84 236 69 0.215 45 20 6 0 12 Benign 8.276 21539 chr17 67304447 67304447 C T rs11544715 ABCA5 Nonsynonymous SNV A178T 0.119 0.083 0.092 29 140 32 0.074 27 12 1 1 1 18.71 21540 chr5 90107108 90107108 A G rs2438374 ADGRV1 Nonsynonymous SNV E5344G 0.967 0.969 0.946 379 1135 372 0.972 278 548 180 131 184 Benign 11.33 21541 chr16 29908433 29908433 C G rs11649499 SEZ6L2 Nonsynonymous SNV R30P 0.883 0.852 0.582 341 1037 327 0.874 171 464 139 80 149 12.57 21542 chr16 2140972 2140972 G A rs77634115 PKD1 Synonymous SNV R3971R 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 Benign 7.049 21543 chr17 6733672 6733672 T C rs8078571 TEKT1 Synonymous SNV P8P 0.472 0.469 0.459 185 554 180 0.474 135 133 44 32 42 0.255 21544 chr17 6899559 6899559 C G rs312467 ALOX12 Synonymous SNV P41P 0.983 0.945 0.793 381 1154 363 0.977 233 576 181 116 189 13.81 21545 chr5 90119324 90119324 G A rs2438378 ADGRV1 Nonsynonymous SNV V5427M 0.997 1 0.997 388 1171 384 0.995 293 584 192 146 193 Benign 0.009 21546 chr16 27480797 27480797 C T rs61739285 GTF3C1 Nonsynonymous SNV R1630H 0.036 0.034 0.014 9 42 13 0.023 4 1 1 0 0 33 21547 chr16 2143865 2143865 G A rs116114803 PKD1 Synonymous SNV L3589L 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Benign 0.174 21548 chr17 6902743 6902743 G A rs1042356 ALOX12 Synonymous SNV S255S 0.596 0.599 0.568 234 700 230 0.6 167 200 70 51 72 10.69 21549 chr16 29994922 29994922 C T rs3814883 TAOK2 Synonymous SNV S453S 0.345 0.328 0.378 132 405 126 0.338 111 71 24 18 24 11.38 21550 chr17 6902760 6902760 A G rs1126667 ALOX12 Nonsynonymous SNV Q261R 0.596 0.599 0.571 234 700 230 0.6 168 200 70 52 72 0.005 21551 chr16 2138269 2138269 T C rs1748 TSC2 Synonymous SNV D1490D 0.161 0.159 0.194 66 189 61 0.169 57 14 5 5 4 Benign 5.232 21552 chr5 90151589 90151589 G A rs2247870 ADGRV1 Nonsynonymous SNV V5876I 0.53 0.516 0.554 218 622 198 0.559 163 163 52 41 68 Benign 20.5 21553 chr16 2140010 2140010 A G rs7203729 PKD1 Synonymous SNV P4209P 0.201 0.208 0.252 78 236 80 0.2 74 20 8 7 8 Benign 0.013 21554 chr17 6904934 6904934 A G rs434473 ALOX12 Nonsynonymous SNV N322S 0.402 0.396 0.425 154 472 152 0.395 125 88 32 31 32 0.026 21555 chr16 30017621 30017621 G A rs770081731 DOC2A Synonymous SNV G363G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.274 21556 chr16 22019729 22019729 - AGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA MOSMO 0.009 0.016 0.007 3 11 6 0.008 2 0 0 0 0 21557 chr16 30018500 30018500 C T rs3935873 DOC2A Synonymous SNV Q216Q 0.335 0.323 0.367 130 393 124 0.333 108 64 22 19 21 7.611 21558 chr16 2140454 2140454 T C rs3087632 PKD1 Synonymous SNV A4091A 0.201 0.208 0.255 77 236 80 0.197 75 21 8 7 8 Benign 0.126 21559 chr16 22130349 22130349 G A VWA3A 0.002 0 0 0 2 0 0 0 0 0 0 0 24 21560 chr5 93731985 93731985 A G rs308207 KIAA0825 Synonymous SNV S1039S 0.94 0.904 0.918 357 1103 347 0.915 270 516 156 124 163 0.572 21561 chr17 6905061 6905061 T G rs1042357 ALOX12 Synonymous SNV T364T 0.595 0.596 0.561 233 698 229 0.597 165 199 69 50 71 0.012 21562 chr16 2140680 2140680 T C rs10960 PKD1 Nonsynonymous SNV I4044V 0.197 0.198 0.235 71 231 76 0.182 69 21 7 7 5 Benign 0.002 21563 chr16 30021402 30021402 C T rs1140239 DOC2A Nonsynonymous SNV G48S 0.266 0.271 0.303 99 312 104 0.254 89 40 19 11 14 Benign 1.618 21564 chr5 93800660 93800660 T C rs17379264 KIAA0825 Synonymous SNV L659L 0.04 0.06 0.051 14 47 23 0.036 15 2 0 0 0 9.55 21565 chr17 6913652 6913652 G A rs312462 ALOX12 Synonymous SNV L634L 0.135 0.167 0.163 47 158 64 0.121 48 8 2 6 3 5.684 21566 chr16 2808478 2808478 C T rs199835386 SRRM2 Nonsynonymous SNV R175W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.7 21567 chr5 94024235 94024235 G C rs76370969 SLF1 Nonsynonymous SNV G716R 0.033 0.026 0.01 9 39 10 0.023 3 1 0 0 0 Benign 24.9 21568 chr17 6918083 6918083 C T rs111330854 RNASEK-C17orf49 0.097 0.112 0.085 47 114 43 0.121 25 4 4 3 5 11.63 21569 chr17 6918090 6918090 C T rs113456718 RNASEK-C17orf49 0.102 0.12 0.092 47 120 46 0.121 27 4 4 4 5 7.197 21570 chr17 6919093 6919093 T C rs14309 C17orf49 Synonymous SNV G39G 0.88 0.872 0.864 337 1033 335 0.864 254 453 147 113 149 15.23 21571 chr16 135671 135671 C T rs753134511 MPG Synonymous SNV V259V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.6 21572 chr5 94050487 94050487 T A rs2636 MCTP1 Synonymous SNV I598I 0.595 0.607 0.503 229 699 233 0.587 148 201 67 45 68 11.42 21573 chr5 41049410 41049410 C T rs116584060 MROH2B Synonymous SNV S491S 0.101 0.096 0.078 27 118 37 0.069 23 3 2 2 1 12.87 21574 chr16 30376486 30376486 T C rs8049108 TBC1D10B Synonymous SNV K368K 0.317 0.346 0.354 118 372 133 0.303 104 60 24 19 19 8.873 21575 chr5 94278129 94278129 T C rs293035 MCTP1 Synonymous SNV V107V 0.242 0.271 0.207 71 284 104 0.182 61 38 13 4 5 14.77 21576 chr17 6928019 6928019 - CAG rs146207245 BCL6B S244_E245insS 0.935 0.93 0.827 358 1098 357 0.918 243 514 166 99 164 21577 chr16 30435601 30435601 C G rs146094440 DCTPP1 Nonsynonymous SNV G156R 0.015 0.021 0.007 4 18 8 0.01 2 0 0 0 0 22.4 21578 chr17 6929924 6929924 T C rs379478 BCL6B Synonymous SNV H346H 0.995 0.997 0.993 384 1168 383 0.985 292 581 191 145 189 1.811 21579 chr5 94772540 94772540 C T rs6878669 FAM81B Nonsynonymous SNV P275S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.87 21580 chr17 6942111 6942111 G T rs33979567 SLC16A13 Synonymous SNV V328V 0.23 0.221 0.211 105 270 85 0.269 62 29 16 6 16 0.013 21581 chr16 3050597 3050597 T C rs2526274 LOC101929613 0.591 0.549 0 223 694 211 0.572 0 204 58 0 62 3.836 21582 chr17 6979179 6979179 A G rs364569 CLEC10A Synonymous SNV P155P 0.438 0.464 0.486 196 514 178 0.503 143 105 36 31 50 0.01 21583 chr16 30518041 30518041 G C rs2230433 ITGAL Nonsynonymous SNV R707T 0.29 0.302 0.259 107 340 116 0.274 76 47 16 9 13 2.885 21584 chr5 94826655 94826655 C A rs2303650 TTC37 Nonsynonymous SNV R1296S 0.256 0.214 0.224 83 301 82 0.213 66 32 7 7 10 23.5 21585 chr16 17564311 17564311 C A rs61758388 XYLT1 Nonsynonymous SNV A115S 0.019 0.018 0.01 4 22 7 0.01 3 0 0 0 0 Benign 5.293 21586 chr17 6981397 6981397 A G rs90951 CLEC10A Nonsynonymous SNV C35R 0.457 0.497 0.486 199 536 191 0.51 143 113 47 33 51 0.073 21587 chr5 41150035 41150035 A G rs76202909 C6 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 25 21588 chr16 10788556 10788556 C T rs16957557 TEKT5 Nonsynonymous SNV A59T 0.009 0.008 0.01 10 11 3 0.026 3 0 0 0 0 0.687 21589 chr16 30536672 30536672 A G rs3751847 ZNF768 Synonymous SNV C263C 0.548 0.63 0.52 225 643 242 0.577 153 175 84 43 62 0.005 21590 chr5 94861118 94861118 G C rs17084873 TTC37 Nonsynonymous SNV L437V 0.256 0.242 0.231 91 301 93 0.233 68 36 10 8 13 12.99 21591 chr17 7011225 7011225 T G rs61731746 ASGR2 Synonymous SNV G99G 0.044 0.057 0.075 23 52 22 0.059 22 2 0 1 0 5.266 21592 chr16 10837913 10837913 C G rs2233531 NUBP1 Nonsynonymous SNV P39A 0.06 0.081 0.044 29 71 31 0.074 13 2 4 0 1 22.6 21593 chr16 2849047 2849047 G A rs546367275 PRSS41 Nonsynonymous SNV R73H 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 5.074 21594 chr17 704201 704201 C T rs56343681 NXN Synonymous SNV P324P 0.017 0.021 0.017 4 20 8 0.01 5 0 0 0 0 12.42 21595 chr16 30666367 30666367 C T rs3747481 PRR14 Nonsynonymous SNV P359L 0.268 0.294 0.241 101 315 113 0.259 71 38 16 8 14 23.7 21596 chr5 41186220 41186220 T G rs61733159 C6 Synonymous SNV T226T 0.088 0.086 0.051 23 103 33 0.059 15 0 1 0 0 7.774 21597 chr16 23079621 23079621 C T rs35541113 USP31 Nonsynonymous SNV D1269N 0.032 0.036 0.044 14 37 14 0.036 13 1 0 0 0 16.39 21598 chr17 70943990 70943990 T C rs2466517 SLC39A11 Nonsynonymous SNV T111A 0.996 0.992 0.983 385 1169 381 0.987 289 582 189 142 190 5.85 21599 chr5 94939193 94939193 A G rs17084927 ARSK Nonsynonymous SNV Q525R 0.103 0.096 0.061 29 121 37 0.074 18 5 1 0 2 0.017 21600 chr16 23093816 23093816 C T rs35188058 USP31 Synonymous SNV T631T 0.032 0.036 0.044 14 37 14 0.036 13 1 0 0 0 15.28 21601 chr17 71192663 71192663 G A rs1052706 COG1 Synonymous SNV Q111Q 0.524 0.51 0.51 197 615 196 0.505 150 154 48 37 49 Benign 13.16 21602 chr16 2264766 2264766 C T rs112351847 PGP Nonsynonymous SNV E5K 0.026 0.023 0.024 12 30 9 0.031 7 0 0 0 0 6.845 21603 chr5 94956619 94956619 G C rs113272282 GPR150 Nonsynonymous SNV E214Q 0.186 0.18 0.17 80 218 69 0.205 50 24 6 2 7 0.004 21604 chr16 1825982 1825982 C T rs61753375 EME2 Stop gain Q322X 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 36 21605 chr16 1484455 1484455 T C rs61743495 CCDC154 Nonsynonymous SNV Q653R 0.069 0.044 0.075 29 81 17 0.074 22 5 1 0 2 0.001 21606 chr16 10861830 10861830 C G rs148922151 NUBP1 Nonsynonymous SNV S271C 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 19.36 21607 chr5 41909884 41909884 C A rs142045369 C5orf51 Nonsynonymous SNV L82I 0.022 0.021 0.007 9 26 8 0.023 2 0 0 0 1 28.1 21608 chr17 71192873 71192873 A G rs11544800 COG1 Synonymous SNV A181A 0.525 0.51 0.503 198 616 196 0.508 148 153 48 37 49 Benign 8.151 21609 chr17 71193525 71193525 G C rs117208167 COG1 Nonsynonymous SNV Q301H 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.49 21610 chr5 94994339 94994339 A G rs10705 SPATA9 Synonymous SNV N251N 0.192 0.185 0.163 82 225 71 0.21 48 26 5 2 8 5.731 21611 chr5 41927326 41927326 G T FBXO4 Nonsynonymous SNV G134V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 16.43 21612 chr5 95084131 95084131 G A rs34896 RHOBTB3 Synonymous SNV A170A 0.463 0.479 0.415 186 543 184 0.477 122 129 47 28 46 8.904 21613 chr17 71196809 71196809 A G rs1026128 COG1 Nonsynonymous SNV N392S 0.529 0.521 0.517 201 621 200 0.515 152 157 52 37 50 Benign 0.004 21614 chr5 95091194 95091194 C T rs34898 RHOBTB3 Synonymous SNV Y259Y 0.462 0.482 0.415 185 542 185 0.474 122 128 47 28 46 5.282 21615 chr16 28944700 28944700 G T rs35979293 CD19 Synonymous SNV P235P 0.337 0.32 0.374 125 396 123 0.321 110 65 20 22 18 Benign 6.413 21616 chr5 42700044 42700044 A G rs6179 GHR Synonymous SNV G164G 0.71 0.75 0.707 280 834 288 0.718 208 287 106 75 95 Benign 6.981 21617 chr5 42719239 42719239 A C rs6180 GHR Nonsynonymous SNV I522L 0.465 0.513 0.49 193 546 197 0.495 144 126 46 40 47 Benign 19.8 21618 chr16 23200923 23200923 C T rs5737 SCNN1G Synonymous SNV G183G 0.082 0.076 0.048 35 96 29 0.09 14 4 0 1 0 Benign 9.078 21619 chr5 95091201 95091201 A G rs34899 RHOBTB3 Nonsynonymous SNV N262D 0.462 0.482 0.415 186 542 185 0.477 122 128 47 28 46 0.003 21620 chr17 71197748 71197748 G A rs1037256 COG1 Synonymous SNV E594E 0.529 0.521 0.517 202 621 200 0.518 152 157 52 37 50 Benign 0.112 21621 chr17 71205854 71205854 A G rs8387 FAM104A Nonsynonymous SNV I92T 0.622 0.617 0.605 237 730 237 0.608 178 224 74 50 70 2.288 21622 chr17 71232687 71232687 T C rs745143 C17orf80 Nonsynonymous SNV F356L 0.532 0.518 0.517 205 625 199 0.526 152 160 51 38 51 0.393 21623 chr5 43039793 43039793 T C rs1054428 ANXA2R Nonsynonymous SNV Q119R 0.295 0.307 0.388 125 346 118 0.321 114 65 15 24 14 0.002 21624 chr5 95152313 95152313 A G rs4561 GLRX Synonymous SNV I75I 0.465 0.474 0.486 183 546 182 0.469 143 133 49 37 43 1.114 21625 chr16 11001770 11001770 G T rs34654419 CIITA Synonymous SNV L807L 0.186 0.229 0.16 97 218 88 0.249 47 18 5 6 11 Benign 2.877 21626 chr5 95728898 95728898 C G rs6235 PCSK1 Nonsynonymous SNV S690T 0.261 0.299 0.289 99 307 115 0.254 85 40 20 13 13 Benign/Likely benign 12.59 21627 chr17 71232804 71232804 C A rs904384 C17orf80 Nonsynonymous SNV H395N 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.004 21628 chr16 2348528 2348528 G C rs323043 ABCA3 Synonymous SNV P585P 0.209 0.203 0.187 82 245 78 0.21 55 21 4 5 10 Benign 0.33 21629 chr16 30936081 30936081 G A rs35675346 FBXL19 Nonsynonymous SNV E10K 0.221 0.26 0.184 85 260 100 0.218 54 34 12 2 7 5.341 21630 chr5 95728974 95728974 G C rs6234 PCSK1 Nonsynonymous SNV Q665E 0.261 0.299 0.289 99 307 115 0.254 85 40 20 13 13 Benign/Likely benign 0.001 21631 chr17 71232807 71232807 T C rs904383 C17orf80 Nonsynonymous SNV C396R 0.538 0.526 0.517 205 632 202 0.526 152 165 54 38 51 0.002 21632 chr16 16259596 16259596 G A rs41278174 ABCC6 Nonsynonymous SNV R1064W 0.015 0.023 0.014 8 18 9 0.021 4 0 0 0 0 Benign 33 21633 chr16 18847416 18847416 G A rs3816919 SMG1 Synonymous SNV S2632S 0.115 0.099 0.126 47 135 38 0.121 37 12 2 1 4 0.531 21634 chr17 71232881 71232881 G C rs745142 C17orf80 Nonsynonymous SNV Q420H 0.537 0.526 0.517 205 631 202 0.526 152 164 54 38 51 0.7 21635 chr5 96031569 96031569 A G rs9667 CAST Synonymous SNV Q56Q 0.18 0.164 0.18 75 211 63 0.192 53 23 6 6 5 2.903 21636 chr16 23379279 23379279 C T rs250563 SCNN1B Synonymous SNV F293F 0.06 0.076 0.068 32 71 29 0.082 20 0 3 0 3 Benign 10.38 21637 chr16 18866208 18866208 C G rs17731779 SMG1 Nonsynonymous SNV R1418T 0.028 0.026 0.01 9 33 10 0.023 3 0 0 0 0 14.51 21638 chr5 96118852 96118852 G C rs27044 ERAP1 Nonsynonymous SNV Q730E 0.69 0.698 0.721 278 810 268 0.713 212 277 87 76 97 0.135 21639 chr16 31004169 31004169 T C rs17855121 STX1B Synonymous SNV S280S 0.222 0.237 0.167 110 261 91 0.282 49 30 13 2 11 Benign 4.762 21640 chr17 71233130 71233130 A G rs11869253 C17orf80 Synonymous SNV S503S 0.528 0.508 0.517 204 620 195 0.523 152 161 51 38 51 0.039 21641 chr17 71238433 71238433 G A rs1566286 C17orf80 Nonsynonymous SNV A522T 0.532 0.526 0.517 205 625 202 0.526 152 158 55 39 51 0.001 21642 chr5 50057729 50057729 G A rs282547 PARP8 Synonymous SNV G140G 0.555 0.492 0.578 211 651 189 0.541 170 235 58 60 72 9.72 21643 chr5 96121524 96121524 C T rs469783 ERAP1 Synonymous SNV A637A 0.496 0.534 0.466 187 582 205 0.479 137 143 52 27 42 15.07 21644 chr5 50057729 50057729 G T rs282547 PARP8 Synonymous SNV G140G 0.034 0.057 0.02 25 40 22 0.064 6 3 2 0 2 8.056 21645 chr16 19049253 19049253 A T rs55796412 TMC7 Nonsynonymous SNV T13S 0.018 0.013 0.024 7 21 5 0.018 7 0 0 0 0 23 21646 chr17 7128292 7128292 G A rs148584617 ACADVL Nonsynonymous SNV R593Q 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.27 21647 chr5 96124330 96124330 T C rs30187 ERAP1 Nonsynonymous SNV K528R 0.599 0.612 0.588 223 703 235 0.572 173 205 68 45 58 26.4 21648 chr16 29884998 29884998 C T rs376386839 SEZ6L2 Synonymous SNV S605S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.25 21649 chr5 50685505 50685505 A G rs2303751 ISL1 Synonymous SNV P168P 0.337 0.346 0.316 135 396 133 0.346 93 61 29 19 21 7.598 21650 chr5 96126308 96126308 A G rs27529 ERAP1 Synonymous SNV S453S 0.599 0.612 0.585 223 703 235 0.572 172 205 68 45 58 1.119 21651 chr17 7129840 7129840 T C rs35594616 DVL2 Synonymous SNV Q554Q 0.733 0.706 0.741 294 860 271 0.754 218 317 95 82 109 0.002 21652 chr16 31090407 31090407 G C rs35713203 ZNF646 Nonsynonymous SNV G921A 0.319 0.339 0.293 113 375 130 0.29 86 66 21 11 13 0.053 21653 chr5 50685514 50685514 G A rs121913540 ISL1 Synonymous SNV R171R 0.008 0.008 0.02 6 9 3 0.015 6 0 0 0 0 Benign 11.4 21654 chr17 7132556 7132556 C T rs222837 DVL2 Synonymous SNV Q285Q 0.675 0.651 0.701 271 792 250 0.695 206 268 79 73 89 12.17 21655 chr5 96129512 96129512 A G rs27434 ERAP1 Synonymous SNV A356A 0.742 0.76 0.738 278 871 292 0.713 217 322 109 75 95 2.378 21656 chr16 2369774 2369774 G A rs45480502 ABCA3 Synonymous SNV A227A 0.025 0.018 0.02 16 29 7 0.041 6 0 0 0 0 Benign/Likely benign 2.545 21657 chr16 23544061 23544061 C T rs77939239 EARS2 Synonymous SNV P328P 0.019 0.013 0.031 5 22 5 0.013 9 0 0 0 0 Benign 10.65 21658 chr17 7133162 7133162 G A rs222836 DVL2 Synonymous SNV S207S 0.648 0.625 0.653 253 761 240 0.649 192 244 76 63 79 Benign 11.23 21659 chr16 31091209 31091209 T C rs3751855 ZNF646 Synonymous SNV T1188T 0.339 0.349 0.303 118 398 134 0.303 89 77 23 11 15 0.002 21660 chr5 96129543 96129543 C T rs27895 ERAP1 Nonsynonymous SNV G346D 0.072 0.073 0.054 29 84 28 0.074 16 1 0 0 4 15.21 21661 chr17 7133609 7133609 G A rs2074216 DVL2 Synonymous SNV S135S 0.44 0.378 0.439 155 516 145 0.397 129 106 28 28 26 8.328 21662 chr17 71380087 71380087 G C rs2270716 SDK2 Nonsynonymous SNV L1545V 0.043 0.065 0.037 15 51 25 0.038 11 0 0 1 0 14.21 21663 chr16 1675986 1675986 G T rs150953427 CRAMP1 Nonsynonymous SNV G120V 0.019 0.013 0.014 5 22 5 0.013 4 0 0 0 0 23.1 21664 chr16 31092075 31092075 G A rs7196726 ZNF646 Nonsynonymous SNV G1477D 0.342 0.352 0.303 117 402 135 0.3 89 76 23 11 14 0.001 21665 chr5 96130836 96130836 T C rs26618 ERAP1 Nonsynonymous SNV I276M 0.227 0.242 0.231 89 267 93 0.228 68 26 9 5 6 22.5 21666 chr16 23722280 23722280 G A rs56342512 ERN2 Synonymous SNV H51H 0.043 0.063 0.071 9 51 24 0.023 21 0 1 2 0 6.96 21667 chr5 52096928 52096928 C T rs112612194 PELO Synonymous SNV L234L 0.014 0.023 0 7 16 9 0.018 0 0 0 0 0 10.67 21668 chr17 71386577 71386577 G T rs61752521 SDK2 Synonymous SNV T1347T 0.25 0.292 0.228 111 293 112 0.285 67 40 17 5 16 12.79 21669 chr16 19127347 19127347 C T rs11074362 ITPRIPL2 Nonsynonymous SNV P522S 0.053 0.039 0.048 16 62 15 0.041 14 2 0 0 0 16.65 21670 chr16 31096164 31096164 G C rs7199949 PRSS53 Nonsynonymous SNV P406A 0.345 0.352 0.289 120 405 135 0.308 85 78 23 11 15 0.001 21671 chr16 2376149 2376149 A G ABCA3 Nonsynonymous SNV S61P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 14.45 21672 chr17 71390366 71390366 C A rs904381 SDK2 Synonymous SNV G1230G 0.368 0.336 0.364 126 432 129 0.323 107 87 21 21 25 11.55 21673 chr5 96139250 96139250 C G rs26653 ERAP1 Nonsynonymous SNV R127P 0.667 0.685 0.687 249 783 263 0.638 202 263 87 67 75 7.937 21674 chr17 71426656 71426656 G T rs1105353 SDK2 Nonsynonymous SNV T526N 0.203 0.172 0.201 61 238 66 0.156 59 22 5 5 5 5.614 21675 chr5 52193287 52193287 C T rs1531545 ITGA1 Synonymous SNV A364A 0.582 0.612 0.52 218 683 235 0.559 153 207 76 38 57 14.96 21676 chr16 23847575 23847575 C A rs75964872 PRKCB Synonymous SNV R27R 0.181 0.211 0.231 78 213 81 0.2 68 26 8 8 9 15.29 21677 chr5 96231000 96231000 G T rs2549782 ERAP2 Nonsynonymous SNV K347N 0.532 0.547 0.534 199 624 210 0.51 157 153 57 45 54 3.882 21678 chr17 71426670 71426670 G A rs1105354 SDK2 Synonymous SNV H521H 0.197 0.172 0.207 61 231 66 0.156 61 22 5 5 5 4.468 21679 chr16 24202458 24202458 C T rs3729904 PRKCB Synonymous SNV G590G 0.306 0.315 0.306 113 359 121 0.29 90 55 16 11 10 19.95 21680 chr16 30097630 30097630 C T rs2289292 TBX6 Synonymous SNV P409P 0.316 0.315 0.173 149 371 121 0.382 51 64 28 16 27 Benign 12.16 21681 chr16 1537414 1537414 C T rs56294663 PTX4 Synonymous SNV R228R 0.045 0.039 0.027 16 53 15 0.041 8 2 1 0 0 3.209 21682 chr16 1822642 1822642 C G rs11552434 MRPS34 Nonsynonymous SNV L109F 0.018 0.034 0.017 3 21 13 0.008 5 0 0 0 0 24.5 21683 chr16 31193942 31193942 C A rs741810 FUS Synonymous SNV G49G 0.198 0.229 0.238 88 233 88 0.226 70 17 8 8 10 Benign 17.19 21684 chr17 71503636 71503636 T C rs9895895 SDK2 Synonymous SNV P55P 0.654 0.69 0.707 267 768 265 0.685 208 269 85 72 88 5.207 21685 chr17 7154534 7154534 G A rs414206 CTDNEP1 Synonymous SNV L28L 0.753 0.742 0.762 301 884 285 0.772 224 329 107 86 115 10.34 21686 chr5 96232142 96232142 T A rs2548538 ERAP2 Synonymous SNV P390P 0.532 0.547 0.537 199 624 210 0.51 158 153 57 45 54 12.29 21687 chr17 7155861 7155861 G A rs2521988 ELP5 Nonsynonymous SNV E14K 0.142 0.143 0.143 58 167 55 0.149 42 10 2 4 4 0.002 21688 chr16 31289396 31289396 T C rs1143680 ITGAM Nonsynonymous SNV M441T 0.091 0.089 0.092 40 107 34 0.103 27 4 2 1 4 0.002 21689 chr5 96237326 96237326 G A rs2287988 ERAP2 Synonymous SNV Q518Q 0.531 0.544 0.544 199 623 209 0.51 160 152 56 45 54 8.404 21690 chr17 7163739 7163739 A G rs4562 CLDN7 Nonsynonymous SNV V197A 0.753 0.745 0.759 301 884 286 0.772 223 329 108 86 115 1.971 21691 chr5 96239258 96239258 T A rs17408150 ERAP2 Nonsynonymous SNV L624Q 0.099 0.102 0.095 39 116 39 0.1 28 4 3 1 2 26.9 21692 chr16 31367318 31367318 T C rs2230424 ITGAX Nonsynonymous SNV W48R 0.07 0.065 0.075 26 82 25 0.067 22 2 2 1 1 0.008 21693 chr16 27231757 27231757 - A KDM8 Frameshift insertion G385Rfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 21694 chr16 1823728 1823728 C T rs199761703 EME2 Synonymous SNV A90A 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 14.1 21695 chr16 1537693 1537693 C A rs61734779 PTX4 Nonsynonymous SNV R135S 0.048 0.047 0.054 18 56 18 0.046 16 2 1 1 0 0.087 21696 chr5 53813830 53813830 A C rs76854460 SNX18 Synonymous SNV P16P 0.352 0.352 0.367 129 413 135 0.331 108 66 27 14 14 0.001 21697 chr16 1825969 1825969 C A rs143964421 EME2 Synonymous SNV S317S 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 14.53 21698 chr17 71752500 71752500 - T rs58614631 LOC100134391 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 21699 chr16 30364712 30364712 G A rs34391305 CD2BP2 Nonsynonymous SNV T262I 0.024 0.034 0.02 22 28 13 0.056 6 0 0 0 0 12.42 21700 chr17 7187123 7187123 T C rs5435 SLC2A4 Synonymous SNV N130N 0.733 0.74 0.803 285 861 284 0.731 236 314 104 94 103 0.002 21701 chr16 31371674 31371674 G A rs2230428 ITGAX Nonsynonymous SNV A251T 0.104 0.12 0.105 45 122 46 0.115 31 4 2 0 2 5.652 21702 chr16 1537874 1537874 G A rs7202502 PTX4 Nonsynonymous SNV A75V 0.06 0.055 0.058 22 70 21 0.056 17 4 2 0 1 5.725 21703 chr5 96244719 96244719 T C rs17486915 ERAP2 Synonymous SNV H644H 0.099 0.102 0.095 39 116 39 0.1 28 4 3 1 2 0.195 21704 chr17 7217463 7217463 T C rs2292064 GPS2 Synonymous SNV L111L 0.398 0.388 0.408 144 467 149 0.369 120 99 29 24 26 6.567 21705 chr17 7221385 7221385 G A rs1127440 NEURL4 Synonymous SNV P1351P 0.433 0.432 0.456 159 508 166 0.408 134 113 37 29 36 8.072 21706 chr16 1996629 1996629 C T rs74930354 RPL3L Synonymous SNV P316P 0.051 0.044 0.034 24 60 17 0.062 10 1 1 0 1 9.757 21707 chr17 72246101 72246101 T C rs3897753 TTYH2 Synonymous SNV L298L 0.354 0.354 0.388 129 416 136 0.331 114 69 29 21 26 0.057 21708 chr5 96245343 96245343 C T rs2549796 ERAP2 Synonymous SNV G698G 0.531 0.547 0.541 199 623 210 0.51 159 152 57 45 54 14.33 21709 chr16 2003016 2003016 G A rs140185678 RPL3L Nonsynonymous SNV A75V 0.02 0.018 0.024 8 23 7 0.021 7 0 0 0 0 24.1 21710 chr17 72246466 72246466 C T rs7224615 TTYH2 Synonymous SNV T41T 0.352 0.349 0.378 128 413 134 0.328 111 68 29 21 25 9.869 21711 chr16 25239805 25239805 G C rs2287798 AQP8 Nonsynonymous SNV A260P 0.324 0.292 0.333 121 380 112 0.31 98 65 15 16 13 1.449 21712 chr5 96245439 96245439 C T rs1056893 ERAP2 Synonymous SNV S730S 0.531 0.544 0.544 199 623 209 0.51 160 152 56 45 54 15.73 21713 chr17 72248483 72248483 A G rs4789640 TTYH2 Synonymous SNV A88A 0.353 0.352 0.378 128 414 135 0.328 111 68 29 22 25 0.534 21714 chr16 27373872 27373872 A C rs1805011 IL4R Nonsynonymous SNV E400A 0.061 0.055 0.061 24 72 21 0.062 18 1 0 0 0 0.862 21715 chr5 96249115 96249115 C T rs2255546 ERAP2 Synonymous SNV L826L 0.531 0.547 0.544 199 623 210 0.51 160 152 57 45 54 7.269 21716 chr17 72248512 72248512 C T rs12600564 TTYH2 Nonsynonymous SNV T98I 0.089 0.081 0.099 30 104 31 0.077 29 6 2 1 1 17.16 21717 chr16 2012453 2012453 C T rs140724499 SNORA10 0.011 0.008 0 0 13 3 0 0 0 0 0 0 6.893 21718 chr16 25255506 25255506 C T rs11642611 ZKSCAN2 Synonymous SNV K527K 0.156 0.159 0.184 66 183 61 0.169 54 17 5 4 2 13.87 21719 chr16 25258035 25258035 A G rs11649280 ZKSCAN2 Synonymous SNV N494N 0.157 0.159 0.184 67 184 61 0.172 54 17 5 4 2 0.093 21720 chr17 7224921 7224921 C G rs3809813 NEURL4 Nonsynonymous SNV Q1017H 0.109 0.104 0.102 31 128 40 0.079 30 7 0 3 2 12.51 21721 chr16 27373915 27373915 G T rs2234898 IL4R Synonymous SNV L414L 0.061 0.055 0.061 24 72 21 0.062 18 1 0 0 0 5.577 21722 chr5 96322360 96322360 G A rs41276279 LNPEP Nonsynonymous SNV V373I 0.095 0.099 0.092 39 112 38 0.1 27 4 3 1 2 13.29 21723 chr16 1254272 1254272 C T rs61073355 CACNA1H Synonymous SNV G755G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 7.276 21724 chr16 25258655 25258655 A G rs61742723 ZKSCAN2 Nonsynonymous SNV W288R 0.046 0.052 0.051 16 54 20 0.041 15 1 0 1 0 21.3 21725 chr16 320614 320614 G A rs144225083 RGS11 Nonsynonymous SNV R188W 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 25.3 21726 chr16 27373964 27373964 T C rs1805012 IL4R Nonsynonymous SNV C431R 0.053 0.047 0.051 20 62 18 0.051 15 1 0 0 0 1.923 21727 chr17 72301432 72301432 A G rs8073660 DNAI2 Synonymous SNV E354E 0.524 0.513 0.51 201 615 197 0.515 150 162 49 37 51 Benign 5.502 21728 chr17 72308319 72308319 G A rs1979370 DNAI2 Nonsynonymous SNV A546T 0.87 0.862 0.895 332 1021 331 0.851 263 442 141 116 140 Benign 0.006 21729 chr16 25263278 25263278 G A rs2112811 ZKSCAN2 Nonsynonymous SNV L253F 0.156 0.159 0.184 66 183 61 0.169 54 17 5 4 2 3.784 21730 chr5 96363459 96363459 A G rs11746232 LNPEP Nonsynonymous SNV I963V 0.112 0.138 0.102 50 132 53 0.128 30 6 5 2 3 17.96 21731 chr16 3254470 3254470 T C rs1834026 OR1F1 Nonsynonymous SNV F75S 0.391 0.404 0.415 124 459 155 0.318 122 82 27 26 17 2.969 21732 chr16 27373972 27373972 T C rs2234900 IL4R Synonymous SNV L433L 0.076 0.07 0.071 34 89 27 0.087 21 3 1 1 1 0.021 21733 chr17 72346855 72346855 T C rs11077744 KIF19 Synonymous SNV H466H 0.782 0.766 0.741 297 918 294 0.762 218 354 110 82 110 0.001 21734 chr16 3254972 3254972 T C rs2075851 OR1F1 Synonymous SNV G242G 0.386 0.404 0.408 124 453 155 0.318 120 81 27 25 17 0.009 21735 chr17 72349040 72349040 C T rs9897137 KIF19 Synonymous SNV S687S 0.164 0.193 0.187 75 193 74 0.192 55 15 7 4 5 5.733 21736 chr17 72349067 72349067 C T rs2280108 KIF19 Synonymous SNV S696S 0.386 0.349 0.398 148 453 134 0.379 117 86 25 24 27 12.04 21737 chr5 54410099 54410099 G A rs444527 CDC20B Nonsynonymous SNV R461W 0.171 0.156 0.139 76 201 60 0.195 41 15 2 1 8 29.7 21738 chr5 96498783 96498783 G A rs8654 RIOK2 Synonymous SNV A547A 0.57 0.607 0.5 216 669 233 0.554 147 191 73 39 67 13.66 21739 chr16 1263819 1263819 C T rs59286323 CACNA1H Nonsynonymous SNV T1600M 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign/Likely benign 24.5 21740 chr17 72350402 72350402 G A rs2271534 KIF19 Nonsynonymous SNV A804T 0.122 0.154 0.156 51 143 59 0.131 46 7 4 3 0 6.914 21741 chr5 96503523 96503523 C T rs160632 RIOK2 Nonsynonymous SNV G349R 0.571 0.607 0.551 216 670 233 0.554 162 191 73 39 67 9.397 21742 chr17 72350412 72350412 G A rs2271535 KIF19 Nonsynonymous SNV R807H 0.371 0.341 0.364 139 435 131 0.356 107 75 23 23 21 21.3 21743 chr16 27761040 27761040 C T rs61734902 KIAA0556 Nonsynonymous SNV P920L 0.059 0.052 0.054 13 69 20 0.033 16 1 1 0 0 20.1 21744 chr16 12662420 12662420 C T rs2288423 SNX29 Synonymous SNV F792F 0.204 0.234 0.228 77 240 90 0.197 67 28 6 9 7 15.55 21745 chr5 96512865 96512865 T A rs2548319 RIOK2 Synonymous SNV L151L 0.624 0.646 0.602 232 732 248 0.595 177 228 83 50 76 10.65 21746 chr17 72351024 72351024 T C rs9891620 KIF19 Nonsynonymous SNV L937P 0.145 0.169 0.177 51 170 65 0.131 52 10 5 3 0 2.812 21747 chr5 96512871 96512871 T A rs2544772 RIOK2 Synonymous SNV S149S 0.624 0.646 0.599 232 732 248 0.595 176 228 83 50 76 11.22 21748 chr16 27751382 27751382 G A rs148440556 KIAA0556 Synonymous SNV K588K 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 12.86 21749 chr16 27772821 27772821 C T rs55953014 KIAA0556 Nonsynonymous SNV A1240V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 29.2 21750 chr5 54420799 54420799 A C rs382402 CDC20B Synonymous SNV V349V 0.17 0.156 0.139 76 200 60 0.195 41 15 2 1 8 0.076 21751 chr5 98109828 98109828 G A rs2547973 RGMB Synonymous SNV E18E 0.388 0.401 0.391 145 455 154 0.372 115 95 34 23 27 6.46 21752 chr16 2029083 2029083 G A rs11647257 NOXO1 Synonymous SNV D366D 0.084 0.089 0.048 45 99 34 0.115 14 5 3 1 2 0.119 21753 chr17 72351406 72351406 C T rs2271536 KIF19 Synonymous SNV H984H 0.477 0.487 0.422 178 560 187 0.456 124 133 49 22 41 10.96 21754 chr5 98109838 98109838 A C rs2662263 RGMB Nonsynonymous SNV S22R 0.981 0.966 0.966 381 1152 371 0.977 284 567 179 138 186 6.451 21755 chr17 72353745 72353745 G T rs11547807 BTBD17 Nonsynonymous SNV A163E 0.103 0.104 0.139 39 121 40 0.1 41 4 3 2 0 26.8 21756 chr16 2030006 2030006 T - rs200352693 NOXO1 H197Pfs*38 0.016 0.013 0 6 19 5 0.015 0 1 0 0 1 21757 chr17 72366695 72366695 C A rs2382647 GPR142 Nonsynonymous SNV H44N 1 1 0.986 388 1174 384 0.995 290 587 192 143 193 2.13 21758 chr16 3304573 3304573 G T rs224223 MEFV Synonymous SNV A165A 0.371 0.419 0.378 153 436 161 0.392 111 102 40 25 26 Benign 0.463 21759 chr5 98192165 98192167 AGG - rs138635992 CHD1 P1684del 0.302 0.313 0.313 138 354 120 0.354 92 62 20 13 27 21760 chr16 3085357 3085357 G A rs183014367 BICDL2 Synonymous SNV P47P 0.025 0.026 0.014 18 29 10 0.046 4 1 0 0 0 7.744 21761 chr16 27974487 27974487 T C rs2051743 GSG1L Synonymous SNV A129A 0.55 0.547 0.548 189 646 210 0.485 161 184 57 43 45 4.078 21762 chr16 3304654 3304654 T C rs224224 MEFV Synonymous SNV G138G 0.405 0.448 0.395 158 476 172 0.405 116 102 40 26 26 Benign 0.006 21763 chr17 72368550 72368550 T C rs11658891 GPR142 Synonymous SNV N312N 0.648 0.674 0.626 257 761 259 0.659 184 244 90 61 86 0.864 21764 chr5 98199204 98199204 C T rs161941 CHD1 Synonymous SNV E1445E 0.31 0.323 0.184 143 364 124 0.367 54 64 21 10 30 7.121 21765 chr17 72469958 72469958 A G rs1127737 CD300A Synonymous SNV P108P 0.457 0.432 0.415 185 537 166 0.474 122 118 37 28 41 0.817 21766 chr16 3304762 3304762 A G rs224225 MEFV Synonymous SNV D102D 0.405 0.443 0.398 159 476 170 0.408 117 100 40 26 26 Benign 0.095 21767 chr5 101794167 101794167 A G rs114933736 SLCO6A1 Synonymous SNV R288R 0.018 0.026 0.007 12 21 10 0.031 2 0 0 0 0 Benign 0.321 21768 chr17 72469966 72469966 G A rs2272111 CD300A Nonsynonymous SNV R111Q 0.245 0.242 0.214 99 288 93 0.254 63 34 12 6 9 0.123 21769 chr5 102282589 102282589 C T rs78753846 PAM Nonsynonymous SNV P192L 0.01 0.013 0.003 10 12 5 0.026 1 0 0 0 0 Benign 27.8 21770 chr16 2812939 2812939 C A rs2240140 SRRM2 Nonsynonymous SNV P804T 0.582 0.596 0.585 230 683 229 0.59 172 215 70 51 65 0.075 21771 chr17 72521897 72521897 G A rs17553512 CD300LB Synonymous SNV I120I 0.651 0.672 0.582 254 764 258 0.651 171 254 88 49 80 9.234 21772 chr16 335531 335531 C T rs45459806 PDIA2 Nonsynonymous SNV A316V 0.034 0.049 0.044 18 40 19 0.046 13 0 0 1 0 12.22 21773 chr17 72588326 72588326 A C rs493430 C17orf77, CD300LD Nonsynonymous SNV S6A 0.56 0.568 0.568 234 658 218 0.6 167 185 60 43 69 0.5 21774 chr5 102295723 102295723 C T rs2217252 PAM Synonymous SNV P350P 0.01 0.013 0.003 10 12 5 0.026 1 0 0 0 0 Benign 18.26 21775 chr16 30982720 30982720 C T rs142655588 SETD1A Nonsynonymous SNV S1013L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.4 21776 chr16 335619 335619 G A rs45612235 PDIA2 Synonymous SNV K345K 0.04 0.052 0.061 16 47 20 0.041 18 0 0 1 0 2.925 21777 chr17 72613589 72613589 T G rs581157 CD300E Nonsynonymous SNV K19T 0.449 0.438 0.432 155 527 168 0.397 127 115 39 29 29 0.006 21778 chr5 102310130 102310130 A C rs61736661 PAM Nonsynonymous SNV E491D 0.01 0.013 0.003 10 12 5 0.026 1 0 0 0 0 Benign 8.834 21779 chr16 336377 336377 C G rs45529833 PDIA2 Nonsynonymous SNV P382A 0.035 0.057 0.048 16 41 22 0.041 14 0 1 1 0 22.9 21780 chr17 72691928 72691928 T C rs2034310 CD300LF Nonsynonymous SNV Q233R 0.905 0.917 0.84 360 1062 352 0.923 247 483 160 107 167 0.002 21781 chr5 102433409 102433409 G A rs34813 GIN1 Nonsynonymous SNV T92M 0.281 0.245 0.245 108 330 94 0.277 72 51 9 7 11 1.696 21782 chr16 2821525 2821525 G A rs4036 ELOB Nonsynonymous SNV T145M 0.08 0.083 0.095 21 94 32 0.054 28 5 2 1 0 0.199 21783 chr16 336660 336660 G A rs11647490 PDIA2 Synonymous SNV T449T 0.588 0.563 0.616 209 690 216 0.536 181 205 67 54 56 8.872 21784 chr17 72700943 72700943 A G rs35489971 CD300LF Nonsynonymous SNV V19A 0.89 0.865 0.833 355 1045 332 0.91 245 467 145 105 162 0.002 21785 chr5 102520400 102520400 A C rs26821 PPIP5K2 Synonymous SNV R984R 0.284 0.253 0.241 110 333 97 0.282 71 49 10 8 11 0.006 21786 chr17 72744798 72744798 G C rs745666 MIR3615 0 0 0.378 0 0 0 0 111 0 0 21 0 7.1 21787 chr5 102612166 102612166 T C rs17155192 C5orf30 Synonymous SNV D182D 0.01 0.01 0.014 10 12 4 0.026 4 0 0 0 0 0.038 21788 chr17 72784932 72784932 G A rs2016126 TMEM104 Nonsynonymous SNV V58M 0.571 0.56 0.585 223 670 215 0.572 172 191 62 46 64 0.17 21789 chr5 102891695 102891695 A G rs10045774 NUDT12 Synonymous SNV L283L 0.738 0.76 0.707 294 866 292 0.754 208 316 113 74 111 6.003 21790 chr17 72846368 72846368 C T rs11575879 GRIN2C Nonsynonymous SNV V490I 0.013 0.01 0.01 3 15 4 0.008 3 1 0 0 0 Benign 21.9 21791 chr5 102894977 102894977 T C rs7734923 NUDT12 Synonymous SNV R115R 0.221 0.276 0.207 96 260 106 0.246 61 26 17 8 8 0.182 21792 chr5 102895124 102895124 G A rs7723689 NUDT12 Synonymous SNV D66D 0.221 0.276 0.204 96 260 106 0.246 60 26 17 8 8 4.507 21793 chr17 72851133 72851133 A G rs689730 GRIN2C Synonymous SNV A33A 0.872 0.865 0.854 328 1024 332 0.841 251 443 143 108 139 0.016 21794 chr16 1709988 1709988 C T rs61745180 CRAMP1 Synonymous SNV S779S 0.013 0.026 0.01 6 15 10 0.015 3 0 1 0 0 14.87 21795 chr17 7286326 7286326 T A rs1554948 TNK1 Synonymous SNV L27L 0.351 0.344 0.33 142 412 132 0.364 97 79 20 15 29 11.06 21796 chr5 108133967 108133967 A G rs2229085 FER Synonymous SNV V28V 0.23 0.195 0.241 92 270 75 0.236 71 36 9 6 10 5.244 21797 chr16 2052340 2052340 G A rs61746612 ZNF598 Synonymous SNV H254H 0.055 0.039 0.034 14 64 15 0.036 10 1 0 0 0 11 21798 chr17 72889676 72889676 - GGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC FADS6 P15_A16insTEPMEPTEPMEPTEPMEPTEPMEP 0.176 0.169 0.088 72 207 65 0.185 26 36 12 10 9 21799 chr5 108281909 108281909 C G rs2229086 FER Nonsynonymous SNV L70V 0.029 0.031 0.041 6 34 12 0.015 12 1 0 0 0 3.947 21800 chr17 7292107 7292107 G A rs6503018 TNK1 Nonsynonymous SNV V598M 0.951 0.969 0.949 369 1117 372 0.946 279 532 180 134 174 15.32 21801 chr16 19883583 19883583 G A rs377381168 GPRC5B Synonymous SNV Y326Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.356 21802 chr17 72926420 72926420 G A rs116847146 OTOP2 Synonymous SNV T230T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.293 21803 chr17 72927123 72927123 G T rs6501741 OTOP2 Nonsynonymous SNV G465W 0.591 0.578 0.517 237 694 222 0.608 152 217 56 37 69 6.988 21804 chr5 108672946 108672946 C T rs246105 PJA2 Nonsynonymous SNV A705T 0.18 0.182 0.241 75 211 70 0.192 71 23 10 12 10 22.6 21805 chr16 3613126 3613126 C T rs12445430 NLRC3 Synonymous SNV L604L 0.247 0.227 0.245 81 290 87 0.208 72 24 10 5 11 5.812 21806 chr17 7293715 7293715 C T rs3744549 PLSCR3 Nonsynonymous SNV V124I 0.766 0.784 0.816 303 899 301 0.777 240 343 115 98 117 0.404 21807 chr5 108713970 108713970 C T rs10042721 PJA2 Synonymous SNV E406E 0.816 0.815 0.752 313 958 313 0.803 221 395 132 86 128 3.006 21808 chr16 3613150 3613150 A G rs8044743 NLRC3 Synonymous SNV T596T 0.541 0.5 0.52 205 635 192 0.526 153 167 45 39 52 0.001 21809 chr5 108713982 108713982 T C rs12523186 PJA2 Synonymous SNV A402A 0.618 0.612 0.585 257 725 235 0.659 172 226 74 50 86 2.434 21810 chr17 72937605 72937605 G A rs7210616 OTOP3 Nonsynonymous SNV R46Q 0.603 0.602 0.643 231 708 231 0.592 189 225 72 64 69 0.022 21811 chr16 3639139 3639139 A G rs3810812 SLX4 Synonymous SNV N1500N 0.541 0.51 0.537 202 635 196 0.518 158 168 48 39 50 Benign 0.313 21812 chr5 108714298 108714298 T C rs1045706 PJA2 Nonsynonymous SNV Q297R 0.612 0.609 0.585 255 718 234 0.654 172 221 73 50 84 0.003 21813 chr16 3656482 3656482 C T rs8061528 SLX4 Synonymous SNV A251A 0.239 0.219 0.228 82 280 84 0.21 67 22 9 3 11 Benign 11.39 21814 chr17 72937851 72937851 G A rs9890664 OTOP3 Nonsynonymous SNV R128Q 0.63 0.589 0.656 235 740 226 0.603 193 229 67 63 76 0.039 21815 chr16 3658545 3658545 C A rs137976282 SLX4 Nonsynonymous SNV G141W 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Uncertain significance 24.2 21816 chr5 56778103 56778103 A G rs61737336 ACTBL2 Synonymous SNV Y144Y 0.149 0.13 0.136 52 175 50 0.133 40 14 2 0 2 0.002 21817 chr5 109110591 109110591 G A rs61735369 MAN2A1 Synonymous SNV T433T 0.054 0.047 0.048 23 63 18 0.059 14 3 0 0 0 15.24 21818 chr17 72938100 72938100 T C rs1542752 OTOP3 Nonsynonymous SNV S181P 0.751 0.745 0.793 283 882 286 0.726 233 332 111 91 102 3.512 21819 chr16 20636837 20636837 T C rs8056709 ACSM1 Nonsynonymous SNV I479V 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 12.49 21820 chr5 109117171 109117171 A G rs13189822 MAN2A1 Synonymous SNV Q483Q 0.162 0.18 0.19 63 190 69 0.162 56 16 6 5 4 3.038 21821 chr16 3721773 3721773 G C rs1136948 TRAP1 Nonsynonymous SNV D342E 0.198 0.164 0.17 69 233 63 0.177 50 15 5 3 2 Benign 27.1 21822 chr5 58270494 58270494 C T rs7736186 PDE4D Synonymous SNV T585T 0.037 0.065 0.051 13 43 25 0.033 15 0 0 1 0 Benign 12.9 21823 chr16 31146739 31146739 C G rs8049043 PRSS8 Synonymous SNV G27G 0.022 0.01 0.01 5 26 4 0.013 3 0 0 0 0 2.953 21824 chr17 72948369 72948369 A G rs17853024 HID1 Synonymous SNV I713I 0.952 0.948 0.949 372 1118 364 0.954 279 531 173 132 179 6.048 21825 chr5 109181682 109181682 A T rs3186988 MAN2A1 Synonymous SNV S939S 0.6 0.635 0.571 233 704 244 0.597 168 221 79 44 61 0.039 21826 chr17 72949167 72949167 T C rs2307011 HID1 Synonymous SNV A662A 0.056 0.029 0.054 24 66 11 0.062 16 4 0 0 2 2.627 21827 chr5 109190936 109190938 CTC - rs3217225 MAN2A1 S1026del 0.157 0.161 0.156 56 184 62 0.144 46 17 5 3 1 21828 chr17 72949649 72949649 C T rs2087718 HID1 Synonymous SNV P654P 0.053 0.018 0.041 20 62 7 0.051 12 4 0 0 1 11.03 21829 chr5 109954164 109954164 C T rs61978570 TMEM232 Nonsynonymous SNV V290I 0.02 0.016 0.031 7 23 6 0.018 9 0 0 1 0 0.126 21830 chr17 72952017 72952017 A G rs9906160 HID1 Synonymous SNV T502T 0.95 0.948 0.942 372 1115 364 0.954 277 528 173 130 179 6.422 21831 chr16 31193948 31193948 C T rs61733962 FUS Synonymous SNV G51G 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 Benign 16.51 21832 chr17 7297452 7297452 A G rs4613118 TMEM256-PLSCR3 0.767 0.784 0.827 304 901 301 0.779 243 345 116 100 117 2.911 21833 chr5 110074967 110074967 C T rs145421520 SLC25A46 Synonymous SNV I49I 0.021 0.016 0.027 7 25 6 0.018 8 0 0 1 0 Benign 15.35 21834 chr16 4027605 4027605 C T rs2240735 ADCY9 Synonymous SNV A902A 0.731 0.729 0.772 292 858 280 0.749 227 318 104 87 108 14.31 21835 chr17 72999773 72999773 C T rs3744204 CDR2L Synonymous SNV H334H 0.274 0.318 0.354 122 322 122 0.313 104 43 18 18 19 13.29 21836 chr17 73000061 73000061 A G rs3744203 CDR2L Synonymous SNV E430E 0.334 0.388 0.429 138 392 149 0.354 126 65 27 25 24 3.735 21837 chr5 110439509 110439509 A G rs11241095 WDR36 Nonsynonymous SNV I264V 0.35 0.352 0.344 144 411 135 0.369 101 74 20 16 33 Benign 0.03 21838 chr16 4164364 4164364 C T rs2230738 ADCY9 Synonymous SNV R360R 0.283 0.281 0.265 98 332 108 0.251 78 38 14 10 11 10.52 21839 chr17 73016621 73016621 C T rs1044228 MRPL58 Synonymous SNV L135L 0.277 0.313 0.344 121 325 120 0.31 101 48 18 14 18 13.64 21840 chr5 60999768 60999768 C T rs436696 C5orf64 0.432 0.424 0.347 185 507 163 0.474 102 110 34 16 35 14.76 21841 chr17 73089852 73089852 T C rs4788863 SLC16A5 Synonymous SNV L41L 0.666 0.708 0.68 270 782 272 0.692 200 248 97 65 88 0.507 21842 chr16 31276811 31276811 G A rs1143679 ITGAM Nonsynonymous SNV R77H 0.154 0.154 0.173 67 181 59 0.172 51 11 3 3 4 8.314 21843 chr5 110819753 110819753 G C rs25925 CAMK4 Synonymous SNV S140S 0.766 0.758 0.711 287 899 291 0.736 209 341 114 72 102 13.58 21844 chr17 7318061 7318061 T C rs78355381 NLGN2 Synonymous SNV S246S 0.175 0.198 0.156 73 205 76 0.187 46 22 8 6 8 0.621 21845 chr17 7318396 7318396 C T rs2241233 NLGN2 Synonymous SNV S322S 0.852 0.841 0.857 328 1000 323 0.841 252 424 136 109 137 12.85 21846 chr16 18853744 18853744 T C rs12926959 SMG1 Synonymous SNV K2084K 0.092 0.083 0.102 45 108 32 0.115 30 9 1 0 3 3.009 21847 chr5 111500816 111500816 - TAAAA rs145708081 EPB41L4A 0.237 0.234 0.364 86 278 90 0.221 107 50 18 24 17 21848 chr5 111611076 111611076 A G rs12521830 EPB41L4A Synonymous SNV F94F 0.344 0.344 0.173 150 404 132 0.385 51 83 24 15 25 8.731 21849 chr17 7318935 7318935 C T rs12947017 NLGN2 Synonymous SNV G381G 0.395 0.367 0.412 152 464 141 0.39 121 95 25 26 26 11.75 21850 chr16 31336888 31336888 C T rs1143683 ITGAM Nonsynonymous SNV A858V 0.258 0.25 0.221 105 303 96 0.269 65 37 9 6 14 7.921 21851 chr17 73221439 73221439 C T rs2291029 NUP85 Synonymous SNV P199P 0.993 0.995 0.983 388 1166 382 0.995 289 579 190 142 193 15.94 21852 chr5 112162854 112162854 T C rs2229992 APC Synonymous SNV Y468Y 0.585 0.552 0.599 238 687 212 0.61 176 200 53 56 67 Benign 1.77 21853 chr17 73221446 73221446 A G rs141178315 NUP85 Nonsynonymous SNV T202A 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 13.29 21854 chr5 112164561 112164561 G A rs351771 APC Synonymous SNV A527A 0.621 0.607 0.639 249 729 233 0.638 188 224 68 61 77 Benign 14.8 21855 chr16 31343005 31343005 C T rs1143678 ITGAM Nonsynonymous SNV P1146S 0.257 0.25 0.224 104 302 96 0.267 66 37 9 6 13 21.4 21856 chr16 19020663 19020663 C T rs75615247 TMC7 Synonymous SNV D79D 0.037 0.036 0.014 6 44 14 0.015 4 1 0 0 0 2.61 21857 chr5 64273018 64273018 G A rs1309581 CWC27 Synonymous SNV T403T 0.33 0.357 0.395 140 388 137 0.359 116 59 25 24 29 14.47 21858 chr17 73230856 73230856 C T rs9988 NUP85 Synonymous SNV D534D 0.737 0.758 0.759 291 865 291 0.746 223 317 111 80 103 16.98 21859 chr5 112174677 112174677 T C rs143638171 APC Nonsynonymous SNV L1111S 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 21860 chr17 73257986 73257986 C T rs8075276 MRPS7 Nonsynonymous SNV A2V 0.707 0.747 0.745 285 830 287 0.731 219 305 111 78 101 Benign 29.8 21861 chr16 3139194 3139194 C T rs778572083 ZSCAN10 Synonymous SNV T353T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.01 21862 chr16 2087562 2087562 G A rs1132368 SLC9A3R2 Synonymous SNV S161S 0.07 0.057 0.037 38 82 22 0.097 11 0 3 0 0 7.066 21863 chr16 19078969 19078969 - T rs113575419 LOC102723385 0.033 0.031 0.014 4 39 12 0.01 4 1 0 0 0 21864 chr16 3140535 3140535 C T ZSCAN10 Synonymous SNV P163P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.94 21865 chr5 65108215 65108215 A G rs2254485 NLN Synonymous SNV P659P 0.671 0.609 0.687 249 788 234 0.638 202 263 66 73 78 4.222 21866 chr16 2983138 2983138 C T rs2074363 FLYWCH1 Synonymous SNV A268A 0.14 0.128 0.136 49 164 49 0.126 40 14 4 1 2 11.45 21867 chr16 20998654 20998654 G A rs34663463 DNAH3 Synonymous SNV S2287S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.117 21868 chr5 112175770 112175770 G A rs41115 APC Synonymous SNV T1475T 0.624 0.609 0.639 249 733 234 0.638 188 223 69 61 76 Benign 8.667 21869 chr17 73268801 73268801 C T rs3744231 LOC100287042 0 0 0.568 0 0 0 0 167 0 0 41 0 8.88 21870 chr16 2983483 2983483 C G rs2074362 FLYWCH1 Synonymous SNV L383L 0.168 0.148 0.201 56 197 57 0.144 59 22 3 5 3 5.572 21871 chr16 29908385 29908385 G A rs184056093 SEZ6L2 Nonsynonymous SNV P46L 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Benign 25.3 21872 chr17 73268904 73268904 C T rs3744230 LOC100287042 0 0 0.412 0 0 0 0 121 0 0 38 0 6.347 21873 chr5 112176325 112176325 G A rs42427 APC Synonymous SNV G1660G 0.624 0.609 0.643 249 733 234 0.638 189 223 69 62 76 Benign 1.298 21874 chr17 73269530 73269530 A G rs1809352 LOC100287042 0.911 0.922 0.915 355 1070 354 0.91 269 485 164 125 160 Benign 1.83 21875 chr5 112176559 112176559 T G rs866006 APC Synonymous SNV S1738S 0.625 0.612 0.639 250 734 235 0.641 188 224 70 61 77 Benign 0.002 21876 chr17 73279624 73279624 A G rs7213318 SLC25A19 Synonymous SNV Y113Y 0.991 0.992 0.99 387 1164 381 0.992 291 577 189 144 192 Benign 0.017 21877 chr5 112176756 112176756 T A rs459552 APC Nonsynonymous SNV V1804D 0.782 0.781 0.816 302 918 300 0.774 240 354 114 101 114 Benign 13.24 21878 chr17 7329134 7329134 G A rs72842820 SPEM2 Nonsynonymous SNV V43M 0.188 0.214 0.16 72 221 82 0.185 47 26 8 5 6 16.17 21879 chr16 29998919 29998919 G A rs767790551 TAOK2 Nonsynonymous SNV R1109Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 21880 chr5 112177171 112177171 G A rs465899 APC Synonymous SNV P1942P 0.624 0.609 0.643 249 733 234 0.638 189 223 69 62 76 Benign 7.963 21881 chr17 7329632 7329632 T G rs13290 SPEM2 Nonsynonymous SNV S108A 0.652 0.633 0.636 260 766 243 0.667 187 249 77 63 88 22.7 21882 chr5 112312676 112312676 T C rs33555 DCP2 Nonsynonymous SNV F16L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.63 21883 chr5 67522722 67522722 C T rs706713 PIK3R1 Synonymous SNV Y73Y 0.184 0.143 0.211 74 216 55 0.19 62 23 3 6 10 Benign/Likely benign 10.24 21884 chr17 7348625 7348625 A G rs17856697 CHRNB1 Nonsynonymous SNV E32G 0.379 0.37 0.384 149 445 142 0.382 113 86 27 25 23 Benign 23.3 21885 chr17 73488794 73488794 C T rs4078259 TMEM94 Synonymous SNV I622I 0.827 0.802 0.803 317 971 308 0.813 236 402 127 96 130 18.96 21886 chr5 112328377 112328377 A G rs3733969 DCP2 Synonymous SNV L114L 0.742 0.727 0.738 311 871 279 0.797 217 325 104 81 126 7.369 21887 chr17 73498483 73498483 T C rs7503373 CASKIN2 Nonsynonymous SNV E809G 0.898 0.854 0.918 349 1054 328 0.895 270 495 152 124 161 0.02 21888 chr5 68692375 68692375 - AA rs377737971 RAD17 0 0.005 0.031 1 0 2 0.003 9 0 1 2 0 21889 chr16 4382351 4382351 C A rs34543395 GLIS2 Synonymous SNV R24R 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 Benign/Likely benign 21 21890 chr17 73498623 73498623 A G rs7502835 CASKIN2 Synonymous SNV S762S 0.684 0.672 0.643 276 803 258 0.708 189 278 91 60 96 0.001 21891 chr5 112349070 112349070 T C rs9326869 DCP2 Synonymous SNV A349A 0.74 0.732 0.728 309 869 281 0.792 214 318 105 78 124 0.103 21892 chr17 73513281 73513281 C G rs148146916 TSEN54 Nonsynonymous SNV R109G 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign 27.3 21893 chr5 112379289 112379289 G A rs2227948 MCC Synonymous SNV A708A 0.572 0.56 0.507 238 672 215 0.61 149 192 58 40 74 8.91 21894 chr5 112384802 112384802 G A rs6594664 MCC Synonymous SNV D691D 0.982 0.974 0.959 379 1153 374 0.972 282 566 182 138 184 0.905 21895 chr17 73517536 73517536 G A rs79508780 TSEN54 Nonsynonymous SNV V190M 0.056 0.049 0.051 18 66 19 0.046 15 2 0 1 1 Benign 0.22 21896 chr5 112399791 112399791 G A rs2227947 MCC Synonymous SNV N511N 0.7 0.69 0.626 270 822 265 0.692 184 289 90 59 95 12.59 21897 chr17 73518203 73518203 G C rs9911502 TSEN54 Nonsynonymous SNV K347N 0.624 0.599 0.571 228 733 230 0.585 168 223 70 52 65 Benign 26.1 21898 chr5 112406862 112406862 G A rs2227950 MCC Synonymous SNV A428A 0.266 0.284 0.337 108 312 109 0.277 99 41 15 18 15 15.68 21899 chr5 112439941 112439941 T C rs6594681 MCC Nonsynonymous SNV K190R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.75 21900 chr17 73518284 73518284 G C rs6501820 TSEN54 Synonymous SNV R374R 0.911 0.888 0.891 350 1070 341 0.897 262 488 152 118 159 Benign 7.521 21901 chr16 30680931 30680939 CCTAGGGGC - rs562693493 FBRS R971_P973del 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21902 chr16 19896858 19896858 T A rs17842820 GPRC5B Nonsynonymous SNV D20V 0.054 0.034 0 21 63 13 0.054 0 0 0 0 0 Benign 9.954 21903 chr17 73519413 73519413 C T rs8064529 TSEN54 Nonsynonymous SNV A437V 0.629 0.599 0.595 228 738 230 0.585 175 226 70 53 65 Benign 23 21904 chr5 112479004 112479004 T C rs2227949 MCC Synonymous SNV T75T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.01 21905 chr16 2004119 2004119 C T rs146294352 RPL3L Nonsynonymous SNV G12R 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 27.1 21906 chr5 112899573 112899573 T C rs6867579 YTHDC2 Synonymous SNV D520D 0.138 0.146 0.102 75 162 56 0.192 30 8 5 4 11 2.363 21907 chr5 112929013 112929013 T A rs1132528 YTHDC2 Nonsynonymous SNV L1109Q 0.398 0.401 0.432 171 467 154 0.438 127 79 28 22 35 15.64 21908 chr17 73552185 73552185 G A rs1671036 LLGL2 Nonsynonymous SNV R45H 0.538 0.589 0.568 177 632 226 0.454 167 166 69 49 37 16.96 21909 chr16 2018580 2018580 G A rs62038784 RNF151 Nonsynonymous SNV R131Q 0.009 0.016 0.027 0 10 6 0 8 0 0 0 0 0.021 21910 chr16 22285007 22285007 G A rs55982915 EEF2K Nonsynonymous SNV D609N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 34 21911 chr17 73565171 73565171 T C rs1671021 LLGL2 Nonsynonymous SNV F479L 0.428 0.38 0.354 191 503 146 0.49 104 110 29 16 45 9.237 21912 chr5 113829121 113829121 A G rs1841251 KCNN2 Synonymous SNV E120E 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 2.344 21913 chr16 4625274 4625274 A G rs1256768 C16orf96 Nonsynonymous SNV I265V 0.14 0.167 0.16 49 164 64 0.126 47 9 7 3 4 0.001 21914 chr5 114462355 114462355 C T rs2974617 TRIM36 Nonsynonymous SNV D523N 0.967 0.977 0.963 378 1135 375 0.969 283 548 183 136 183 9.323 21915 chr16 30544270 30544270 G A rs118050297 ZNF747 Synonymous SNV H182H 0.017 0.016 0.037 9 20 6 0.023 11 1 0 0 0 5.717 21916 chr17 73568031 73568031 C T rs116275079 LLGL2 Synonymous SNV L782L 0.008 0.01 0.014 4 9 4 0.01 4 1 0 0 0 19.24 21917 chr16 2230928 2230928 G A rs199677555 CASKIN1 Nonsynonymous SNV T814I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.183 21918 chr17 73625430 73625430 G A rs4788902 RECQL5 Synonymous SNV H691H 0.543 0.557 0.571 235 638 214 0.603 168 163 67 50 75 0.377 21919 chr16 4625938 4625938 A T rs2450386 C16orf96 Nonsynonymous SNV D486V 0.137 0.167 0.153 49 161 64 0.126 45 9 7 3 4 11.88 21920 chr5 115298378 115298378 C T rs10062297 LVRN Synonymous SNV L22L 0.729 0.755 0.755 270 856 290 0.692 222 315 110 83 89 9.814 21921 chr16 3073240 3073240 G T rs10508 HCFC1R1 Nonsynonymous SNV P73Q 0.263 0.258 0.218 92 309 99 0.236 64 42 12 6 11 12.32 21922 chr17 73625478 73625478 T C rs820191 RECQL5 Synonymous SNV T675T 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.002 21923 chr16 2139781 2139781 G A PKD1 Nonsynonymous SNV P4286S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.211 21924 chr16 22343484 22343484 A C rs777777289 POLR3E Nonsynonymous SNV Q647P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 21925 chr5 115298475 115298475 T C rs12520255 LVRN Nonsynonymous SNV L54S 0.731 0.755 0.762 270 858 290 0.692 224 315 110 85 89 0.025 21926 chr17 73627565 73627565 A G rs820197 RECQL5 Synonymous SNV Y471Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.09 21927 chr16 2140755 2140755 A G PKD1 Nonsynonymous SNV C4019R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.555 21928 chr17 73750859 73750859 C G rs8669 ITGB4 Synonymous SNV P1437P 0.482 0.479 0.449 191 566 184 0.49 132 139 42 29 44 Benign 13.98 21929 chr17 73753503 73753503 T C rs871443 ITGB4 Nonsynonymous SNV L1762P 0.756 0.768 0.697 283 887 295 0.726 205 328 114 71 104 Benign 26.1 21930 chr5 115298518 115298518 A G rs12522632 LVRN Synonymous SNV P68P 0.731 0.755 0.759 271 858 290 0.695 223 315 110 84 90 1.426 21931 chr5 115298977 115298977 C T rs1445708 LVRN Synonymous SNV F221F 0.335 0.341 0.378 129 393 131 0.331 111 63 19 16 23 17.94 21932 chr16 30762922 30762922 C T rs138416154 PHKG2 Synonymous SNV D108D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.33 21933 chr16 46764585 46764585 A G rs56003096 MYLK3 Synonymous SNV P155P 0.008 0.013 0 3 9 5 0.008 0 0 0 0 0 1.179 21934 chr17 73812879 73812879 T C rs367545905 UNK Synonymous SNV P330P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.31 21935 chr5 115341611 115341611 G T rs10078748 LVRN Synonymous SNV A680A 0.77 0.771 0.789 281 904 296 0.721 232 345 114 92 102 11.81 21936 chr16 30939188 30939188 C T rs201252774 FBXL19 Synonymous SNV G197G 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Benign 8.912 21937 chr16 46773999 46773999 C A rs28407821 MYLK3 Nonsynonymous SNV V180L 0.595 0.62 0.544 229 698 238 0.587 160 207 66 41 65 5.236 21938 chr17 73812909 73812909 A G rs9908146 UNK Synonymous SNV P340P 0.945 0.961 0.915 378 1110 369 0.969 269 523 178 124 183 5.042 21939 chr5 115341638 115341638 G C rs10078759 LVRN Nonsynonymous SNV L689F 0.77 0.771 0.793 280 904 296 0.718 233 346 114 93 101 24.5 21940 chr17 73816026 73816026 A G rs11868471 UNK Synonymous SNV A558A 0.946 0.958 0.922 380 1111 368 0.974 271 524 177 124 185 12.21 21941 chr17 73819525 73819525 C T rs8078208 UNK Synonymous SNV S733S 0.287 0.26 0.184 97 337 100 0.249 54 50 16 12 9 8.686 21942 chr16 4733253 4733253 C T rs61734739 MGRN1 Nonsynonymous SNV S482L 0.02 0.029 0.014 13 23 11 0.033 4 0 0 0 0 13.44 21943 chr5 115394626 115394626 G A rs6880759 ARL14EPL Synonymous SNV P147P 0.767 0.784 0.724 292 900 301 0.749 213 348 121 83 112 6.293 21944 chr17 73824121 73824121 T C rs7210574 UNC13D Synonymous SNV E1066E 0.417 0.401 0.391 149 490 154 0.382 115 96 31 20 30 Benign 5.463 21945 chr16 3613207 3613207 G A rs9940099 NLRC3 Synonymous SNV T577T 0.022 0.013 0.051 15 26 5 0.038 15 0 0 1 0 0.102 21946 chr16 3078165 3078165 A G rs12448103 BICDL2 Nonsynonymous SNV L490P 0.265 0.26 0.218 90 311 100 0.231 64 42 13 6 11 25.3 21947 chr5 115428334 115428334 G T rs1129494 COMMD10 Synonymous SNV T98T 0.637 0.646 0.646 247 748 248 0.633 190 250 78 63 81 12.16 21948 chr17 73827205 73827205 T C rs1135688 UNC13D Nonsynonymous SNV K867E 0.409 0.393 0.388 143 480 151 0.367 114 92 28 18 25 Benign 0.04 21949 chr5 71495041 71495041 T C rs3805452 MAP1B Synonymous SNV G1827G 0.223 0.188 0.245 76 262 72 0.195 72 19 6 10 12 0.154 21950 chr16 3613637 3613637 G A rs77463028 NLRC3 Nonsynonymous SNV P434L 0.02 0.013 0.041 14 24 5 0.036 12 0 0 1 0 0.001 21951 chr5 115469773 115469773 C T rs1129496 COMMD10 Synonymous SNV T122T 0.631 0.648 0.646 245 741 249 0.628 190 247 78 63 79 15.01 21952 chr5 71756102 71756102 G A rs7721922 ZNF366 Synonymous SNV L408L 0.389 0.354 0.384 146 457 136 0.374 113 81 26 18 33 1.465 21953 chr5 115813726 115813726 A G rs34966 SEMA6A Nonsynonymous SNV Y518H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.9 21954 chr17 73836162 73836162 C G rs7223416 UNC13D Synonymous SNV P296P 0.416 0.414 0.378 156 488 159 0.4 111 96 33 19 30 Benign 14.41 21955 chr17 73886888 73886888 A G rs3760128 TRIM65 Nonsynonymous SNV L487P 0.391 0.375 0.378 141 459 144 0.362 111 87 21 24 24 0.014 21956 chr16 3614739 3614739 G A rs200354871 NLRC3 Nonsynonymous SNV R67C 0.007 0.005 0.014 4 8 2 0.01 4 0 0 0 0 20.3 21957 chr16 31072909 31072909 G A rs8046978 ZNF668 Nonsynonymous SNV A447V 0.176 0.216 0.194 92 207 83 0.236 57 18 11 4 8 0.764 21958 chr5 118811533 118811533 G A rs25640 HSD17B4 Nonsynonymous SNV R88H 0.357 0.341 0.398 135 419 131 0.346 117 108 30 18 26 Benign 34 21959 chr17 73888423 73888423 A G rs7222755 TRIM65 Synonymous SNV H223H 0.336 0.341 0.33 133 394 131 0.341 97 60 17 17 19 0.005 21960 chr17 73888427 73888427 A C rs7222757 TRIM65 Nonsynonymous SNV V222G 0.336 0.341 0.33 133 394 131 0.341 97 60 17 17 19 0.017 21961 chr16 3640274 3640274 G A rs714181 SLX4 Nonsynonymous SNV P1122L 0.072 0.057 0.095 36 84 22 0.092 28 1 0 2 0 Benign 9.446 21962 chr5 118861713 118861713 A G rs11205 HSD17B4 Nonsynonymous SNV I541V 0.401 0.398 0.388 142 471 153 0.364 114 94 22 23 24 Benign 21.1 21963 chr17 73894963 73894963 C G rs9191 MRPL38 Nonsynonymous SNV D371H 0.02 0.029 0.027 12 23 11 0.031 8 0 0 0 1 32 21964 chr5 118969960 118969960 C T rs328694 FAM170A Nonsynonymous SNV P126S 0.466 0.49 0.541 204 547 188 0.523 159 119 40 41 51 22.6 21965 chr16 3640477 3640477 C T rs76488917 SLX4 Synonymous SNV S1054S 0.018 0.01 0.048 12 21 4 0.031 14 0 0 1 0 Benign/Likely benign 14.49 21966 chr16 22826007 22826007 C T rs749663116 HS3ST2 Nonsynonymous SNV L26F 0.002 0 0 0 2 0 0 0 0 0 0 0 18.33 21967 chr17 73900688 73900688 T C rs3744015 MRPL38 Synonymous SNV R60R 0.38 0.365 0.337 137 446 140 0.351 99 82 19 19 21 1.355 21968 chr16 3641280 3641280 C T rs140600202 SLX4 Nonsynonymous SNV E787K 0.007 0.005 0.01 4 8 2 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 21969 chr17 73922941 73922941 T C rs2305913 FBF1 Nonsynonymous SNV R165G 0.388 0.372 0.395 141 456 143 0.362 116 82 19 26 21 12.09 21970 chr5 120021817 120021817 C A rs17853861 PRR16 Nonsynonymous SNV P110T 0.159 0.141 0.112 51 187 54 0.131 33 16 6 2 5 26.6 21971 chr16 22826321 22826321 G A rs111703383 HS3ST2 Synonymous SNV V130V 0.003 0.003 0.003 0 4 1 0 1 1 0 0 0 10.7 21972 chr5 72798845 72798845 A G rs14010 BTF3 Synonymous SNV T140T 0.054 0.034 0.058 21 63 13 0.054 17 2 0 2 0 1.212 21973 chr16 3707747 3707747 G A rs1053874 DNASE1 Nonsynonymous SNV R244Q 0.27 0.24 0.289 101 317 92 0.259 85 42 11 15 10 risk factor 11.24 21974 chr17 73944496 73944496 G A rs35629489 ACOX1 Nonsynonymous SNV R553C 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 Benign/Likely benign 29 21975 chr16 1859342 1859342 A G rs151314474 HAGH Nonsynonymous SNV V290A 0.01 0.008 0.017 5 12 3 0.013 5 0 0 0 0 23 21976 chr5 120021819 120021819 G A rs1158194 PRR16 Synonymous SNV P110P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.81 21977 chr5 121518309 121518309 G A rs9112 LOC100505841 Nonsynonymous SNV R113Q 0.463 0.435 0.401 155 544 167 0.397 118 135 41 28 32 15.14 21978 chr16 3708193 3708193 G A rs1059857 TRAP1 Synonymous SNV D631D 0.037 0.021 0.065 20 44 8 0.051 19 2 0 2 1 Benign 0.247 21979 chr16 2301520 2301520 G C rs11541763 ECI1 Synonymous SNV R16R 0.142 0.135 0.143 52 167 52 0.133 42 19 6 3 8 9.186 21980 chr5 73072504 73072504 A C rs10473959 ARHGEF28 Synonymous SNV R275R 0.029 0.026 0.027 18 34 10 0.046 8 0 0 1 0 Benign 0.327 21981 chr17 73945957 73945957 A G rs8065946 ACOX1 Synonymous SNV D402D 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 Benign/Likely benign 9.182 21982 chr5 122359640 122359640 T C rs451195 PPIC Nonsynonymous SNV N190S 0.357 0.326 0.286 130 419 125 0.333 84 79 24 16 25 17.02 21983 chr17 73949540 73949540 G C rs1135640 ACOX1 Nonsynonymous SNV I274M 0.612 0.622 0.595 249 718 239 0.638 175 216 68 51 78 Benign 17.91 21984 chr16 31073109 31073109 C T rs144972780 ZNF668 Synonymous SNV T380T 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 7.23 21985 chr16 20802172 20802172 C T rs2301770 ERI2 Nonsynonymous SNV G272D 0.081 0.057 0.112 18 95 22 0.046 33 6 2 3 0 13.76 21986 chr16 31142271 31142271 A G rs17855606 KAT8 Nonsynonymous SNV I454M 0.249 0.266 0.282 117 292 102 0.3 83 38 13 10 14 0.002 21987 chr5 122425832 122425832 G T rs13182369 PRDM6 Synonymous SNV A41A 0.396 0.414 0.452 141 465 159 0.362 133 93 34 30 23 8.871 21988 chr17 7399319 7399319 C T rs41556717 POLR2A Synonymous SNV R51R 0.035 0.031 0.02 5 41 12 0.013 6 0 1 0 0 13.74 21989 chr17 73997474 73997474 G A rs2069528 TEN1-CDK3 0.679 0.643 0.67 264 797 247 0.677 197 269 76 69 86 2.971 21990 chr5 122425971 122425971 - CCTCCGCCT rs199942027 PRDM6 S95_C96insASS 0.341 0.359 0.252 124 400 138 0.318 74 87 31 25 23 21991 chr16 20809283 20809283 C A rs11648835 ERI2 Synonymous SNV P613P 0.168 0.151 0.143 92 197 58 0.236 42 18 5 3 14 9.048 21992 chr17 7399866 7399866 G A rs2301609 POLR2A Synonymous SNV G157G 0.25 0.247 0.204 96 293 95 0.246 60 43 12 6 8 8.667 21993 chr5 122682348 122682348 A G rs1047438 CEP120 Synonymous SNV D916D 0.774 0.753 0.765 296 909 289 0.759 225 352 112 87 110 4.782 21994 chr16 20810266 20810266 T C rs16970675 ERI2 Nonsynonymous SNV I286V 0.107 0.115 0.071 48 126 44 0.123 21 10 2 1 2 0.001 21995 chr17 7400137 7400137 T C rs9898024 POLR2A Synonymous SNV L198L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.154 21996 chr5 122685727 122685727 C G rs1047437 CEP120 Nonsynonymous SNV Q853H 0.138 0.138 0.139 52 162 53 0.133 41 10 7 5 1 12.45 21997 chr16 4016943 4016943 A G rs2230741 ADCY9 Synonymous SNV S965S 0.048 0.055 0.024 23 56 21 0.059 7 3 1 1 1 0.007 21998 chr5 73218954 73218954 C T rs423333 ARHGEF28 Nonsynonymous SNV P1664L 0.152 0.135 0.143 53 179 52 0.136 42 19 3 4 3 Benign 0.003 21999 chr17 74003216 74003216 C T rs149512337 EVPL Nonsynonymous SNV A2046T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 22000 chr5 122718736 122718736 G C rs6595440 CEP120 Nonsynonymous SNV L576V 0.473 0.513 0.405 183 555 197 0.469 119 134 56 33 47 24.5 22001 chr5 73930751 73930751 C T rs300239 ENC1 Synonymous SNV K447K 0.744 0.74 0.748 293 874 284 0.751 220 336 102 82 112 10.4 22002 chr17 74004307 74004307 C T rs199686324 EVPL Nonsynonymous SNV R1682Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 22003 chr16 4934915 4934915 C T rs765363274 PPL Synonymous SNV E1247E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.597 22004 chr5 122727026 122727026 G A rs6876883 CEP120 Synonymous SNV H246H 0.468 0.508 0.49 184 549 195 0.472 144 136 56 34 47 8.604 22005 chr17 74004345 74004345 G T rs112552792 EVPL Synonymous SNV R1669R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.468 22006 chr17 74004600 74004600 C A rs113394630 EVPL Nonsynonymous SNV E1584D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 22007 chr5 123984763 123984763 C T rs7708070 ZNF608 Synonymous SNV A438A 0.718 0.714 0.728 270 843 274 0.692 214 298 100 83 94 14.18 22008 chr5 125696140 125696140 G A rs11241887 GRAMD2B Synonymous SNV P39P 0.945 0.927 0.952 371 1109 356 0.951 280 524 164 134 176 8.102 22009 chr16 24834233 24834233 C T rs2303085 TNRC6A Synonymous SNV H1755H 0.181 0.18 0.17 74 213 69 0.19 50 20 5 4 8 15.53 22010 chr16 21123315 21123315 G A rs77634238 DNAH3 Nonsynonymous SNV T580M 0.031 0.034 0.034 12 36 13 0.031 10 0 1 0 0 8.87 22011 chr5 74021847 74021852 ACTCAA - rs5868753 GFM2 F562_E563del 0.295 0.326 0.289 132 346 125 0.338 85 48 16 16 21 22012 chr17 74004928 74004928 G A rs113135904 EVPL Nonsynonymous SNV P1475L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 22013 chr5 125887715 125887715 T G rs12514417 ALDH7A1 Nonsynonymous SNV K375Q 0.07 0.049 0.068 22 82 19 0.056 20 2 0 1 2 Benign 17.31 22014 chr16 24888593 24888593 A G rs8052587 SLC5A11 Synonymous SNV A94A 0.134 0.128 0.129 32 157 49 0.082 38 12 4 4 1 6.907 22015 chr17 74007865 74007865 G C rs141134319 EVPL Nonsynonymous SNV S874R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 22016 chr5 74046464 74046464 C T rs17852781 GFM2 Synonymous SNV E153E 0.145 0.154 0.092 58 170 59 0.149 27 10 3 2 3 Benign 12.98 22017 chr16 2112521 2112521 C A rs45478892 TSC2 Synonymous SNV I227I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.46 22018 chr17 74014668 74014668 T C rs2071192 EVPL Nonsynonymous SNV Q433R 0.554 0.549 0.432 228 650 211 0.585 127 183 59 43 64 0.002 22019 chr5 74069863 74069863 A G rs6874609 NSA2 Synonymous SNV T231T 0.29 0.326 0.286 127 340 125 0.326 84 45 16 16 18 0.875 22020 chr16 424277 424277 G A rs3743887 PGAP6 Nonsynonymous SNV R567W 0.077 0.07 0.078 35 90 27 0.09 23 3 1 0 1 22.6 22021 chr16 31154111 31154111 T C rs199742102 PRSS36 Nonsynonymous SNV E435G 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 14.51 22022 chr16 25258450 25258450 T C rs61746579 ZKSCAN2 Nonsynonymous SNV K356R 0.021 0.018 0.007 9 25 7 0.023 2 0 0 0 0 11.61 22023 chr5 126746277 126746277 C T rs31483 MEGF10 Synonymous SNV L372L 0.965 0.958 0.939 372 1133 368 0.954 276 546 176 131 177 Benign 13.27 22024 chr5 74109840 74109840 G A rs76561443 FAM169A Synonymous SNV S165S 0.029 0.034 0.027 9 34 13 0.023 8 0 0 1 0 10.87 22025 chr16 49671177 49671177 T C rs34214571 ZNF423 Nonsynonymous SNV N512S 0.047 0.065 0.014 10 55 25 0.026 4 2 3 0 0 Benign 0.142 22026 chr5 126792974 126792974 T A rs3812052 MEGF10 Synonymous SNV G1129G 0.682 0.745 0.67 267 801 286 0.685 197 272 111 67 92 Benign 0.339 22027 chr17 7402600 7402600 T C rs2228129 POLR2A Synonymous SNV S487S 0.743 0.737 0.779 288 872 283 0.738 229 330 104 89 102 12.31 22028 chr16 31418869 31418869 A G rs62001041 ITGAD Synonymous SNV R246R 0.06 0.068 0.037 22 70 26 0.056 11 3 1 0 1 0.062 22029 chr17 7404107 7404107 T C rs7217707 POLR2A Synonymous SNV S607S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.087 22030 chr5 126993249 126993249 G C rs45074 CTXN3 Synonymous SNV V12V 0.667 0.672 0.65 272 783 258 0.697 191 258 84 62 93 0.292 22031 chr5 74965122 74965122 G A rs34358 ANKDD1B Stop gain W480X 0.637 0.654 0.626 253 748 251 0.649 184 237 83 56 75 40 22032 chr16 31473275 31473275 A G rs35923277 ARMC5 Nonsynonymous SNV I170V 0.059 0.07 0.044 16 69 27 0.041 13 3 2 0 0 11.29 22033 chr16 3119167 3119167 T C rs34184287 IL32 Synonymous SNV V117V 0.428 0.44 0.146 162 502 169 0.415 43 0 0 0 0 0.005 22034 chr16 49671218 49671218 C T rs16947741 ZNF423 Synonymous SNV P498P 0.047 0.065 0.014 10 55 25 0.026 4 2 3 0 0 Benign 6.218 22035 chr17 7404991 7404991 T C rs2228130 POLR2A Synonymous SNV N764N 0.986 0.979 0.983 382 1157 376 0.979 289 570 184 142 187 4.308 22036 chr5 126993263 126993263 A T rs248709 CTXN3 Nonsynonymous SNV E17V 0.668 0.672 0.65 272 784 258 0.697 191 259 84 62 93 0.655 22037 chr16 3119297 3119297 - G rs71818662 IL32 Frameshift insertion D163Gfs*12 0.429 0.443 0.395 162 504 170 0.415 116 0 0 0 0 22038 chr5 75001582 75001582 A G rs17672542 POC5 Nonsynonymous SNV I60T 0.133 0.143 0.054 58 156 55 0.149 16 8 3 3 3 0.095 22039 chr17 74056413 74056413 C T rs2665998 SRP68 Synonymous SNV E233E 0.403 0.391 0.442 155 473 150 0.397 130 99 31 29 24 16.08 22040 chr16 49672520 49672520 A G rs3803665 ZNF423 Synonymous SNV R64R 0.398 0.401 0.415 127 467 154 0.326 122 105 30 29 22 Benign 0.187 22041 chr16 3119304 3119304 A G rs2981599 IL32 Nonsynonymous SNV D163G 0.321 0.341 0.395 94 377 131 0.241 116 0 0 0 0 0.092 22042 chr17 74076415 74076415 G A rs2257020 ZACN Nonsynonymous SNV A152T 0.595 0.609 0.609 241 699 234 0.618 179 210 74 52 69 21 22043 chr5 127469859 127469859 A G rs2228112 SLC12A2 Synonymous SNV E397E 0.174 0.159 0.184 82 204 61 0.21 54 17 7 7 7 12.69 22044 chr5 127507383 127507383 A T rs141683516 SLC12A2 Synonymous SNV G916G 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 7.046 22045 chr17 74094105 74094105 C G rs7208391 MIR6868 0.388 0.438 0.463 156 455 168 0.4 136 92 38 35 29 5.278 22046 chr16 27353479 27353479 C T rs17548704 IL4R Synonymous SNV S36S 0.02 0.005 0.017 11 24 2 0.028 5 0 0 0 0 Benign 11.03 22047 chr17 7411770 7411770 C T rs2228132 POLR2A Synonymous SNV S1147S 0.248 0.245 0.204 94 291 94 0.241 60 43 13 6 8 15.16 22048 chr5 127614472 127614472 A G rs190450 FBN2 Synonymous SNV S2400S 0.716 0.781 0.796 261 840 300 0.669 234 301 117 94 84 Benign 11.98 22049 chr16 319511 319511 A G rs739999 RGS11 Nonsynonymous SNV M243T 0.147 0.164 0.153 65 172 63 0.167 45 17 6 4 6 5.185 22050 chr17 74136150 74136150 G T rs145296122 FOXJ1 Synonymous SNV P109P 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 10.1 22051 chr16 50667299 50667299 C T rs34100051 NKD1 Synonymous SNV D340D 0.038 0.07 0.034 13 45 27 0.033 10 0 2 0 0 14.7 22052 chr5 127685135 127685135 C T rs154001 FBN2 Nonsynonymous SNV V965I 0.693 0.737 0.694 259 813 283 0.664 204 272 103 73 86 Benign 22.3 22053 chr17 74141572 74141572 A C rs73996149 RNF157-AS1 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 2.704 22054 chr5 75591710 75591710 C G rs2270927 SV2C Nonsynonymous SNV T482S 0.092 0.141 0.075 37 108 54 0.095 22 4 4 0 1 13.7 22055 chr16 50667566 50667566 G A rs146562457 NKD1 Synonymous SNV R429R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.377 22056 chr17 74152366 74152366 A G rs881502 RNF157 Synonymous SNV L484L 0.352 0.375 0.269 113 413 144 0.29 79 66 26 15 12 10.07 22057 chr16 3140616 3140616 T C rs3810808 ZSCAN10 Synonymous SNV E136E 0.072 0.07 0.065 27 84 27 0.069 19 6 1 1 0 0.145 22058 chr16 320759 320759 C T rs9806942 RGS11 Nonsynonymous SNV V167M 0.129 0.148 0.15 54 151 57 0.138 44 6 5 4 6 25.8 22059 chr17 74163821 74163821 G A rs2289603 RNF157 Synonymous SNV Y118Y 0.222 0.24 0.204 70 261 92 0.179 60 38 10 8 3 8.452 22060 chr16 27373833 27373833 C T rs6413500 IL4R Nonsynonymous SNV S387L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.872 22061 chr5 128301885 128301885 T G rs2526247 SLC27A6 Nonsynonymous SNV L19V 0.465 0.487 0.442 197 546 187 0.505 130 123 48 31 50 0.002 22062 chr17 7416599 7416599 G A rs55931722 POLR2A Synonymous SNV S1672S 0.234 0.242 0.197 99 275 93 0.254 58 42 11 4 10 Likely benign 2.085 22063 chr16 3254418 3254418 C G rs61731432 OR1F1 Nonsynonymous SNV P58A 0.026 0.021 0.027 9 30 8 0.023 8 2 0 0 0 19.89 22064 chr17 7416683 7416683 A G rs9894023 POLR2A Synonymous SNV S1700S 0.998 1 0.997 387 1172 384 0.992 293 586 192 146 193 0.703 22065 chr16 22130235 22130235 C T rs201864064 VWA3A Nonsynonymous SNV R335W 0.008 0 0.01 2 9 0 0.005 3 0 0 0 0 23.5 22066 chr5 128301971 128301971 T C rs2577541 SLC27A6 Synonymous SNV Y47Y 0.468 0.484 0.439 200 550 186 0.513 129 126 48 31 51 0.003 22067 chr17 7417086 7417086 G A rs4344809 POLR2A Nonsynonymous SNV A1835T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.84 22068 chr16 4387261 4387261 A C rs3810817 GLIS2 Synonymous SNV A437A 0.151 0.102 0.129 52 177 39 0.133 38 9 1 4 2 Benign 2.012 22069 chr5 128863471 128863471 A G rs6595908 ADAMTS19 Nonsynonymous SNV S373G 0.969 0.969 0.99 374 1138 372 0.959 291 568 186 144 186 11.39 22070 chr16 22137603 22137603 G A rs55732851 VWA3A Nonsynonymous SNV C546Y 0.11 0.063 0.095 31 129 24 0.079 28 10 1 1 3 0.001 22071 chr17 74261677 74261677 T C rs2585751 UBALD2 Synonymous SNV L31L 0.646 0.677 0.459 247 758 260 0.633 135 248 91 47 79 3.22 22072 chr16 4387424 4387424 A G rs8057701 GLIS2 Nonsynonymous SNV T492A 0.029 0.026 0.027 14 34 10 0.036 8 0 0 0 1 Benign 13.95 22073 chr17 74275160 74275160 C T rs347675 QRICH2 Synonymous SNV T1460T 0.111 0.141 0.18 51 130 54 0.131 53 10 5 6 8 15.79 22074 chr5 128863518 128863518 A G rs61749629 ADAMTS19 Synonymous SNV E388E 0.026 0.013 0.044 8 30 5 0.021 13 2 0 0 2 8.74 22075 chr5 129240972 129240972 G C rs33917 CHSY3 Synonymous SNV P150P 0.549 0.589 0.541 214 644 226 0.549 159 211 81 45 67 10.54 22076 chr17 74288262 74288262 T C rs3826286 QRICH2 Nonsynonymous SNV H683R 0 0 0.265 0 0 0 0 78 0 0 8 0 0.001 22077 chr16 3265854 3265854 G A rs61743522 OR1F2P 0.029 0.023 0.027 10 34 9 0.026 8 2 0 0 1 2.722 22078 chr5 129521126 129521126 A G rs2015018 CHSY3 Nonsynonymous SNV D764G 0.782 0.823 0.772 313 918 316 0.803 227 352 132 88 124 0.472 22079 chr17 74381567 74381567 G A rs346803 SPHK1 Nonsynonymous SNV A34T 0.623 0.685 0.68 295 731 263 0.756 200 340 125 93 137 0.003 22080 chr16 2002960 2002960 C T rs118144581 RPL3L Nonsynonymous SNV A94T 0.007 0.013 0.014 3 8 5 0.008 4 0 0 0 0 21.6 22081 chr16 53481010 53481010 A G rs17800727 RBL2 Nonsynonymous SNV Y210C 0.251 0.255 0.296 84 295 98 0.215 87 86 21 12 20 24.4 22082 chr5 130766662 130766662 T C rs1291602 RAPGEF6 Nonsynonymous SNV Q1452R 0.821 0.828 0.796 333 964 318 0.854 234 392 133 95 142 8.821 22083 chr17 74383475 74383475 T C rs3744037 SPHK1 Synonymous SNV Y321Y 0.155 0.156 0.201 78 182 60 0.2 59 18 4 8 3 0.001 22084 chr17 74387284 74387284 C T rs3803739 UBE2O Nonsynonymous SNV G1207S 0.511 0.557 0.5 194 600 214 0.497 147 145 60 40 43 17.55 22085 chr16 53503934 53503934 G A rs1131220 RBL2 Synonymous SNV T694T 0.641 0.659 0.585 226 753 253 0.579 172 250 77 49 69 12.16 22086 chr5 131008194 131008194 T C rs26008 FNIP1 Nonsynonymous SNV Q620R 0.959 0.956 0.959 370 1126 367 0.949 282 539 175 136 178 0.001 22087 chr16 53503943 53503943 C G rs11540358 RBL2 Synonymous SNV R697R 0.403 0.391 0.337 132 473 150 0.338 99 101 29 13 21 9.304 22088 chr17 74475024 74475024 G A rs3744045 RHBDF2 Nonsynonymous SNV P179L 0.924 0.904 0.905 342 1085 347 0.877 266 507 158 120 151 Benign 17.8 22089 chr5 131066725 131066725 C A rs7730228 FNIP1 Nonsynonymous SNV G76C 0.998 0.995 0.99 387 1172 382 0.992 291 585 190 145 192 22.8 22090 chr16 53504721 53504721 T C rs10748 RBL2 Synonymous SNV L864L 0.641 0.659 0.585 226 753 253 0.579 172 250 77 49 70 0.051 22091 chr16 2521987 2521987 G A rs368125600 NTN3 Synonymous SNV S95S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.807 22092 chr16 3304463 3304463 C T rs224222 MEFV Nonsynonymous SNV R202Q 0.221 0.255 0.252 99 259 98 0.254 74 36 12 12 10 Benign 0.097 22093 chr16 25228368 25228368 T C rs146610605 AQP8 Star tloss M1? 0.006 0.013 0 3 7 5 0.008 0 0 0 0 0 12.65 22094 chr17 74475975 74475975 C A rs3809694 RHBDF2 Nonsynonymous SNV A67S 0.453 0.422 0.306 153 532 162 0.392 90 123 39 22 31 Benign 0.002 22095 chr16 53636000 53636000 G A rs4784320 RPGRIP1L Synonymous SNV D1232D 0.064 0.076 0.075 22 75 29 0.056 22 2 0 1 2 Benign 0.033 22096 chr5 131705949 131705949 T C rs2631365 SLC22A5 Synonymous SNV L95L 0.395 0.432 0.452 151 464 166 0.387 133 96 36 33 28 Benign 3.248 22097 chr16 53671754 53671754 C T rs2111119 RPGRIP1L Nonsynonymous SNV G991S 0.125 0.156 0.122 54 147 60 0.138 36 15 5 2 4 Benign/Likely benign 10.2 22098 chr5 131721174 131721174 A G rs274558 SLC22A5 Synonymous SNV L269L 0.395 0.43 0.459 152 464 165 0.39 135 96 35 33 28 Benign 2.939 22099 chr16 332758 332758 A G rs143125556 ARHGDIG Nonsynonymous SNV T208A 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 0.005 22100 chr17 7453505 7453505 C A rs62059804 TNFSF12, TNFSF12-TNFSF13 Synonymous SNV R92R 0.263 0.25 0.262 103 309 96 0.264 77 43 14 11 11 17.64 22101 chr17 74557211 74557211 A C rs16969028 SNORD1B 0 0 0.014 0 0 0 0 4 0 0 0 0 8.152 22102 chr5 131822055 131822055 T C rs9282762 IRF1 Synonymous SNV P185P 0.304 0.315 0.323 152 357 121 0.39 95 57 18 13 32 0.551 22103 chr16 53720436 53720436 C T rs61747071 RPGRIP1L Nonsynonymous SNV A229T 0.089 0.107 0.085 32 104 41 0.082 25 6 2 0 4 Benign/Likely benign 15.69 22104 chr17 7460517 7460517 G C rs3803798 TNFSF12 Synonymous SNV A200A 0.606 0.607 0.561 221 712 233 0.567 165 224 74 51 56 Benign 3.561 22105 chr5 131995964 131995964 A G rs20541 IL13 Nonsynonymous SNV Q144R 0.809 0.82 0.776 326 950 315 0.836 228 381 126 85 136 risk factor 0.001 22106 chr17 7460559 7460559 T G rs4968189 TNFSF12 Synonymous SNV G214G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.29 22107 chr16 450140 450140 - AG rs35963490 NME4 Frameshift insertion R158Qfs*51 0.308 0.315 0.32 130 362 121 0.333 94 58 20 16 16 22108 chr16 3339435 3339435 G C rs220379 ZNF263 Nonsynonymous SNV C310S 0.239 0.26 0.228 99 280 100 0.254 67 38 10 11 10 0.001 22109 chr17 74625686 74625686 A G rs8077382 ST6GALNAC1 Nonsynonymous SNV V80A 0.143 0.128 0.197 40 168 49 0.103 58 12 4 6 0 0.001 22110 chr5 132098242 132098242 A G rs30510 SEPTIN8 Synonymous SNV N210N 0.998 0.995 0.993 387 1172 382 0.992 292 585 190 145 192 9.333 22111 chr5 132149684 132149684 G C rs40274 SOWAHA Nonsynonymous SNV R124P 0.956 0.966 0.949 371 1122 371 0.951 279 544 180 132 180 9.511 22112 chr17 74625715 74625715 T C rs8081258 ST6GALNAC1 Synonymous SNV A70A 0.147 0.135 0.207 40 172 52 0.103 61 12 4 7 0 0.106 22113 chr16 334543 334543 C G rs45614840 PDIA2 Nonsynonymous SNV T119R 0.139 0.143 0.116 44 163 55 0.113 34 11 8 3 1 24.5 22114 chr17 7462969 7462969 A G rs3803800 TNFSF12-TNFSF13, TNFSF13 Nonsynonymous SNV N96S 0.841 0.802 0.823 325 987 308 0.833 242 420 124 98 135 9.081 22115 chr16 4519439 4519439 G A rs11557236 NMRAL1 Nonsynonymous SNV T23I 0.1 0.091 0.112 47 117 35 0.121 33 2 1 3 1 24.9 22116 chr5 76627248 76627248 G A rs138641918 PDE8B Synonymous SNV A204A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign/Likely benign 14.47 22117 chr16 27268779 27268779 G C rs7195194 NSMCE1 Nonsynonymous SNV T38R 0.014 0.016 0.007 13 17 6 0.033 2 1 0 0 0 3.857 22118 chr5 132150024 132150024 C G rs4266393 SOWAHA Synonymous SNV P237P 0.15 0.141 0.245 85 176 54 0.218 72 37 13 16 17 11.65 22119 chr17 74684401 74684401 T C rs2286587 MXRA7 Nonsynonymous SNV H110R 0.264 0.273 0.327 107 310 105 0.274 96 38 18 14 18 1.689 22120 chr5 132150132 132150132 C A rs115553646 SOWAHA Synonymous SNV G273G 0.254 0.253 0.173 114 298 97 0.292 51 40 14 14 17 13.54 22121 chr16 2284939 2284939 C T rs147071848 E4F1 Synonymous SNV D447D 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 3.948 22122 chr16 3533379 3533379 A G rs148261002 NAA60 Synonymous SNV E53E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.267 22123 chr17 74684452 74684452 G A rs2286586 MXRA7 Nonsynonymous SNV P93L 0.264 0.273 0.327 106 310 105 0.272 96 37 18 14 17 6.117 22124 chr5 132150948 132150948 T G rs40470 SOWAHA Nonsynonymous SNV F545L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.183 22125 chr17 74684598 74684598 C T rs4788942 MXRA7 Synonymous SNV L44L 0.785 0.792 0.731 321 922 304 0.823 215 373 120 78 131 1.955 22126 chr17 7470286 7470286 A - rs398030265 SENP3-EIF4A1, SENP3 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 22127 chr16 55536763 55536763 C G rs11541998 MMP2 Synonymous SNV P564P 0.095 0.099 0.092 45 112 38 0.115 27 7 1 1 1 Likely benign 5.268 22128 chr17 74732507 74732507 A G rs237058 SRSF2 Synonymous SNV S134S 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 9.345 22129 chr5 132159134 132159134 C T rs4705870 SHROOM1 Synonymous SNV A678A 0.135 0.117 0.187 51 159 45 0.131 55 10 3 4 2 12.77 22130 chr16 23079501 23079501 G A rs35254998 USP31 Nonsynonymous SNV R1309C 0.074 0.099 0.058 20 87 38 0.051 17 3 2 0 1 23 22131 chr16 20373899 20373899 G A rs139748181 PDILT Nonsynonymous SNV P415S 0.008 0.005 0.007 5 9 2 0.013 2 0 0 0 0 27.3 22132 chr17 74733099 74733099 G A rs237057 SRSF2 Synonymous SNV D48D 0.934 0.914 0.939 368 1097 351 0.944 276 514 160 130 173 10.55 22133 chr16 27772880 27772880 G A rs61742593 KIAA0556 Nonsynonymous SNV E1260K 0.026 0.039 0.037 10 30 15 0.026 11 0 0 0 0 34 22134 chr5 132160057 132160057 C T rs35534543 SHROOM1 Synonymous SNV Q432Q 0.132 0.112 0.173 49 155 43 0.126 51 9 3 4 2 5.47 22135 chr17 7477938 7477938 G C rs1057086 EIF4A1 Synonymous SNV A49A 0.978 0.966 0.956 383 1148 371 0.982 281 562 179 138 188 14.64 22136 chr5 132161294 132161294 G A rs2292030 SHROOM1 Nonsynonymous SNV P180L 0.1 0.076 0.163 41 117 29 0.105 48 9 3 4 2 23.7 22137 chr17 74921072 74921072 G C rs3889145 MGAT5B Synonymous SNV R361R 0.262 0.24 0.31 95 308 92 0.244 91 40 12 17 11 11.77 22138 chr17 74922706 74922706 C T rs33966966 MGAT5B Synonymous SNV F406F 0.179 0.159 0.143 67 210 61 0.172 42 25 6 1 2 18.77 22139 chr16 3367229 3367229 T C rs17611866 ZNF75A Nonsynonymous SNV V84A 0.236 0.268 0.221 98 277 103 0.251 65 35 13 12 9 0.002 22140 chr17 74928758 74928758 C T rs79286496 MGAT5B Synonymous SNV F452F 0.185 0.156 0.143 68 217 60 0.174 42 25 6 1 3 20.2 22141 chr5 132198199 132198199 G A rs254286 GDF9 Synonymous SNV T149T 0.62 0.622 0.578 227 728 239 0.582 170 237 75 53 69 10.31 22142 chr16 55905676 55905676 C T rs72810507 CES5A 0.118 0.102 0.102 50 138 39 0.128 30 5 2 1 5 24.1 22143 chr17 74936576 74936576 G A rs8081793 MGAT5B Synonymous SNV P568P 0.212 0.195 0.207 78 249 75 0.2 61 32 8 6 5 13.17 22144 chr5 132232315 132232315 G A rs739863 AFF4 Synonymous SNV P669P 0.15 0.122 0.184 56 176 47 0.144 54 10 4 6 4 9.292 22145 chr17 74942478 74942478 C T rs8067984 MGAT5B Synonymous SNV Y632Y 0.335 0.323 0.344 130 393 124 0.333 101 64 24 22 19 12.96 22146 chr17 75085260 75085260 C G rs2247814 SNHG20 0 0 0.551 0 0 0 0 162 0 0 51 0 6.976 22147 chr5 132437531 132437531 C T rs1131809 HSPA4 Synonymous SNV I706I 0.216 0.211 0.177 73 254 81 0.187 52 24 3 8 9 18.44 22148 chr17 75085322 75085322 A G rs11868249 SNHG20 0 0 0.177 0 0 0 0 52 0 0 7 0 5.029 22149 chr16 23200963 23200963 G A rs5738 SCNN1G Nonsynonymous SNV E197K 0.015 0.01 0.02 3 18 4 0.008 6 0 0 0 0 Benign/Likely benign 13.76 22150 chr17 75085329 75085329 G T rs16969660 SNHG20 0 0 0.078 0 0 0 0 23 0 0 3 0 4.677 22151 chr5 132561468 132561468 C A rs61741674 FSTL4 Nonsynonymous SNV E353D 0.067 0.091 0.058 21 79 35 0.054 17 3 2 0 0 24 22152 chr17 75085434 75085434 G A rs2678770 SCARNA16 0 0 0.551 0 0 0 0 162 0 0 51 0 21.3 22153 chr17 75190846 75190846 A C rs673918 SEC14L1 Nonsynonymous SNV T154P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 11.42 22154 chr16 23226673 23226673 G A SCNN1G Synonymous SNV L611L 0.008 0.008 0 0 9 3 0 0 0 0 0 0 10.99 22155 chr16 23226674 23226674 C T SCNN1G Nonsynonymous SNV P612S 0.008 0.008 0 0 9 3 0 0 0 0 0 0 28.4 22156 chr5 132652281 132652281 C T rs17683306 FSTL4 Nonsynonymous SNV R158H 0.141 0.161 0.116 41 166 62 0.105 34 10 4 3 4 13.93 22157 chr5 78328560 78328560 G A rs1805072 DMGDH Synonymous SNV G489G 0.216 0.18 0.255 91 254 69 0.233 75 27 8 12 16 Benign 11.38 22158 chr17 7530271 7530271 C T rs858520 SAT2 Synonymous SNV P177P 0.476 0.5 0.493 172 559 192 0.441 145 135 43 36 34 12.38 22159 chr17 75401190 75401190 G A rs2164449 SEPTIN9 Nonsynonymous SNV C6Y 0.411 0.398 0.395 173 482 153 0.444 116 94 30 17 40 Benign 5.096 22160 chr5 133451683 133451683 C A rs5742913 TCF7 Nonsynonymous SNV P19T 0.109 0.112 0.119 43 128 43 0.11 35 9 3 4 1 0.001 22161 chr17 75494705 75494705 A G rs2627223 SEPTIN9 Nonsynonymous SNV M464V 0.963 0.945 0.935 362 1131 363 0.928 275 547 171 132 169 Benign 0.034 22162 chr5 133956668 133956668 G A rs11558540 SAR1B Synonymous SNV L45L 0.091 0.083 0.102 43 107 32 0.11 30 5 2 1 0 11.75 22163 chr17 7557419 7557419 A G rs1642763 ATP1B2 Synonymous SNV G50G 0.84 0.82 0.81 317 986 315 0.813 238 419 128 98 126 7.588 22164 chr5 134343661 134343661 C T rs10044000 CATSPER3 Synonymous SNV A169A 0.514 0.484 0.507 197 604 186 0.505 149 142 40 43 57 9.028 22165 chr17 7579472 7579472 G C rs1042522 TP53 Nonsynonymous SNV P33R 0.693 0.755 0.731 270 814 290 0.692 215 279 108 78 94 drug response 0.355 22166 chr5 134364996 134364996 G T rs1131611 PITX1 Synonymous SNV R140R 0.092 0.104 0.071 42 108 40 0.108 21 4 2 1 3 Benign 9.811 22167 chr17 7592168 7592168 C G rs2287499 WRAP53 Nonsynonymous SNV R68G 0.126 0.109 0.112 50 148 42 0.128 33 10 2 3 1 Benign 3.133 22168 chr5 78421959 78421959 G A rs3733890 BHMT Nonsynonymous SNV R239Q 0.313 0.37 0.32 133 368 142 0.341 94 63 24 13 23 21.8 22169 chr5 134678863 134678863 G A rs868733 C5orf66 0.085 0.086 0.085 35 100 33 0.09 25 0 2 0 2 10.26 22170 chr17 76060954 76060954 A C rs61730171 TNRC6C Synonymous SNV A846A 0.138 0.107 0.116 45 162 41 0.115 34 9 0 1 3 0.004 22171 chr5 134782414 134782414 G T rs12518053 DCANP1 Synonymous SNV R129R 0.514 0.526 0.514 208 604 202 0.533 151 152 56 39 56 6.688 22172 chr17 7606722 7606722 C G rs7640 WRAP53 Nonsynonymous SNV A522G 0.17 0.141 0.163 69 200 54 0.177 48 18 3 4 5 Benign 0.005 22173 chr5 134782450 134782450 T A rs12520799 DCANP1 Stop gain R117X 0.514 0.526 0.514 208 603 202 0.533 151 152 56 39 56 26.1 22174 chr5 78573790 78573790 A T rs13182512 JMY Nonsynonymous SNV M364L 0.582 0.589 0.561 203 683 226 0.521 165 207 65 39 54 5.076 22175 chr17 76093866 76093866 T C rs2290906 TNRC6C Synonymous SNV S1446S 0.164 0.167 0.163 71 193 64 0.182 48 15 6 2 9 4.773 22176 chr16 3639593 3639593 C G rs151144102 SLX4 Nonsynonymous SNV G1349A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 0.004 22177 chr5 134782510 134782510 T C rs12520809 DCANP1 Nonsynonymous SNV N97D 0.514 0.526 0.514 208 603 202 0.533 151 152 56 39 56 0.005 22178 chr17 76121864 76121864 A G rs2748427 TMC6 Nonsynonymous SNV W125R 0.169 0.195 0.235 77 198 75 0.197 69 16 8 8 9 Benign 0.303 22179 chr16 56673828 56673828 A G rs8052394 MT1A Nonsynonymous SNV K51R 0.146 0.115 0.112 56 171 44 0.144 33 10 1 1 2 15.56 22180 chr16 24373157 24373157 G A rs12928078 CACNG3 Synonymous SNV P307P 0.039 0.044 0.058 20 46 17 0.051 17 2 0 0 0 10.44 22181 chr5 134782576 134782576 T G rs1031844 DCANP1 Nonsynonymous SNV T75P 0.513 0.526 0.514 208 602 202 0.533 151 152 56 39 56 0.284 22182 chr17 76131070 76131070 G A rs12452890 TMC8 Synonymous SNV E369E 0.59 0.604 0.619 245 693 232 0.628 182 201 69 54 79 Benign 0.353 22183 chr5 79025157 79025157 A G rs10942901 CMYA5 Nonsynonymous SNV D190G 0.139 0.167 0.19 51 163 64 0.131 56 13 3 4 2 22.6 22184 chr17 76157266 76157266 T C rs4071641 C17orf99 Nonsynonymous SNV W101R 0.689 0.667 0.701 284 809 256 0.728 206 275 84 68 102 0.002 22185 chr5 135178124 135178124 T C rs2304075 SLC25A48 Synonymous SNV V22V 0.847 0.839 0.867 325 994 322 0.833 255 422 134 110 136 2.344 22186 chr17 76210422 76210422 G T rs143160639 BIRC5 Nonsynonymous SNV A9S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 22187 chr5 135207382 135207382 C T rs2304080 SLC25A48 Synonymous SNV A218A 0.668 0.688 0.663 258 784 264 0.662 195 262 91 69 84 15.2 22188 chr5 135228165 135228165 G A rs2069885 IL9 Nonsynonymous SNV T117M 0.084 0.091 0.105 42 99 35 0.108 31 5 4 1 4 4.056 22189 chr17 76219591 76219591 G A rs2071214 BIRC5 Nonsynonymous SNV E129K 0.958 0.938 0.966 363 1125 360 0.931 284 540 168 137 168 7.797 22190 chr16 3736085 3736085 C T rs61758086 TRAP1 Nonsynonymous SNV R75H 0.015 0.013 0.017 9 18 5 0.023 5 0 0 0 0 Likely benign 35 22191 chr5 135276202 135276204 GTT - rs1160982 FBXL21P 0.682 0.719 0.636 268 801 276 0.687 187 270 98 65 95 22192 chr17 76268010 76268010 C T rs880316 LINC01993 0 0 0.078 0 0 0 0 23 0 0 0 0 6.835 22193 chr5 79031558 79031558 G A rs62621912 CMYA5 Nonsynonymous SNV G2324S 0.131 0.161 0.18 55 154 62 0.141 53 12 3 3 3 10.13 22194 chr16 3767473 3767473 G A rs737260 TRAP1 Nonsynonymous SNV R13C 0.031 0.039 0.017 15 36 15 0.038 5 0 1 0 1 Benign 21.9 22195 chr5 135276314 135276314 C T rs40986 FBXL21P 0.71 0.75 0.653 281 833 288 0.721 192 293 104 65 104 16.4 22196 chr16 56974077 56974077 T C rs147630132 HERPUD1 Synonymous SNV S274S 0.018 0.01 0.01 8 21 4 0.021 3 1 0 0 0 5.68 22197 chr17 7630505 7630505 T C rs11867551 DNAH2 Synonymous SNV H98H 0.135 0.151 0.153 65 158 58 0.167 45 8 3 4 7 Benign 0.006 22198 chr5 79041057 79041057 A G rs12514461 CMYA5 Nonsynonymous SNV K3583E 0.091 0.12 0.109 35 107 46 0.09 32 3 1 2 1 23.3 22199 chr5 135276701 135276701 T C rs31548 FBXL21P 0.555 0.609 0.653 241 651 234 0.618 192 261 97 66 94 1.839 22200 chr17 76421464 76421464 C T rs35422926 DNAH17 Synonymous SNV P4368P 0.187 0.169 0.238 68 220 65 0.174 70 21 7 7 4 Benign 10.75 22201 chr5 135276814 135276814 G A rs2066913 FBXL21P 0.308 0.359 0.245 106 362 138 0.272 72 54 26 5 11 5.212 22202 chr16 2522715 2522715 C T rs35693349 NTN3 Synonymous SNV N314N 0.014 0.013 0.007 5 16 5 0.013 2 0 0 0 0 4.339 22203 chr17 76421467 76421467 A G rs36119275 DNAH17 Synonymous SNV P4367P 0.187 0.169 0.238 68 220 65 0.174 70 21 7 7 4 Benign 1.505 22204 chr5 79351735 79351735 C T rs423906 THBS4 Synonymous SNV S49S 0.186 0.198 0.224 91 218 76 0.233 66 21 9 4 12 10.92 22205 chr5 135276847 135276847 T C rs31547 FBXL21P 0.682 0.721 0.653 269 801 277 0.69 192 270 98 66 96 9.359 22206 chr16 20796387 20796387 G C rs5716 ACSM3 Nonsynonymous SNV K367N 0.057 0.036 0.068 45 67 14 0.115 20 2 1 1 0 13.03 22207 chr17 76423097 76423097 G A rs2271613 DNAH17 Synonymous SNV Y4227Y 0.68 0.711 0.605 264 798 273 0.677 178 269 102 52 88 Benign 10.98 22208 chr5 135277394 135277394 - T rs11376205 FBXL21P 0.7 0.745 0.67 279 822 286 0.715 197 294 104 68 104 22209 chr17 76433898 76433898 T C rs12941494 DNAH17 Nonsynonymous SNV H3953R 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Benign 0.212 22210 chr5 135287029 135287029 T C rs31517 LECT2 Nonsynonymous SNV I58V 0.64 0.672 0.605 248 751 258 0.636 178 241 82 56 79 3.311 22211 chr17 76433899 76433899 G A rs61742072 DNAH17 Nonsynonymous SNV H3953Y 0.196 0.174 0.245 76 230 67 0.195 72 23 9 10 4 Benign 15.51 22212 chr16 4033436 4033436 T C rs2230739 ADCY9 Nonsynonymous SNV I772M 0.311 0.284 0.279 109 365 109 0.279 82 59 16 8 11 0.002 22213 chr5 135382989 135382989 G C rs1442 TGFBI Synonymous SNV L217L 0.428 0.409 0.5 186 503 157 0.477 147 113 29 37 43 Benign 8.421 22214 chr16 57080528 57080528 C A rs289723 NLRC5 Nonsynonymous SNV Q1105K 0.301 0.297 0.282 116 353 114 0.297 83 57 16 8 17 0.576 22215 chr5 79616544 79616544 G A rs2047589 SPZ1 Nonsynonymous SNV M170I 0.088 0.083 0.082 24 103 32 0.062 24 4 2 1 3 0.238 22216 chr17 76449505 76449505 G C rs2289751 DNAH17 Synonymous SNV T3483T 0.588 0.565 0.575 229 690 217 0.587 169 209 65 51 68 Benign 8.696 22217 chr5 137028029 137028029 T C rs2905608 KLHL3 Synonymous SNV A75A 0.744 0.742 0.755 288 873 285 0.738 222 324 107 86 104 Benign 1.253 22218 chr16 30991339 30991339 C T rs142782803 SETD1A Nonsynonymous SNV P1411L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 13.84 22219 chr17 76455218 76455218 G A rs2289754 DNAH17 Synonymous SNV C3242C 0.133 0.146 0.167 54 156 56 0.138 49 10 3 2 1 9.816 22220 chr16 57104519 57104519 A G rs79567966 NLRC5 Synonymous SNV L1523L 0.021 0.026 0.044 14 25 10 0.036 13 1 0 0 0 0.613 22221 chr17 76462770 76462770 G A rs691225 DNAH17 Synonymous SNV S2969S 0.76 0.75 0.724 289 892 288 0.741 213 335 112 79 111 Benign 4.983 22222 chr5 79616936 79616936 A C rs35337118 SPZ1 Nonsynonymous SNV H301P 0.226 0.24 0.214 90 265 92 0.231 63 31 12 5 12 4.024 22223 chr16 20851680 20851680 A G rs147583085 REXO5 Nonsynonymous SNV T506A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 25.3 22224 chr5 137206560 137206560 A C rs6890689 MYOT Nonsynonymous SNV K74Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.661 22225 chr16 57111232 57111232 C T rs11864231 NLRC5 Synonymous SNV D1591D 0.242 0.242 0.272 102 284 93 0.262 80 35 11 10 15 13.67 22226 chr17 76464916 76464916 G A rs635874 DNAH17 Nonsynonymous SNV S2854L 0.075 0.083 0.065 30 88 32 0.077 19 4 2 0 1 23.6 22227 chr16 57115068 57115068 C A rs201836836 NLRC5 Nonsynonymous SNV Q1765K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.668 22228 chr16 29821442 29821450 GCAGCGGCA - rs763109290 MAZ A141_A143del 0.007 0.005 0 0 8 2 0 0 0 0 0 0 22229 chr5 137259179 137259179 T C rs12187140 PKD2L2 Nonsynonymous SNV L406P 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 13.34 22230 chr17 76472768 76472768 G A rs7405830 DNAH17 Synonymous SNV L2680L 0.2 0.18 0.177 82 235 69 0.21 52 26 5 9 5 Benign 11.16 22231 chr16 2114407 2114407 C T rs34012042 TSC2 Synonymous SNV S326S 0.058 0.081 0.085 28 68 31 0.072 25 1 1 2 1 Benign/Likely benign 12.15 22232 chr17 76481693 76481693 C G rs11872051 DNAH17 Synonymous SNV T2474T 0.703 0.69 0.677 248 825 265 0.636 199 295 92 66 79 Benign 8.117 22233 chr5 137347498 137347498 G A rs10064910 FAM13B Synonymous SNV S51S 0.985 0.979 0.997 385 1156 376 0.987 293 578 188 146 192 12.01 22234 chr17 76482432 76482432 A G rs691151 DNAH17 Synonymous SNV I2325I 0.699 0.698 0.687 247 821 268 0.633 202 297 90 67 74 Benign 0.195 22235 chr5 137475787 137475787 C T rs423258 BRD8 Synonymous SNV V1228V 0.297 0.281 0.282 109 349 108 0.279 83 45 15 14 16 12.33 22236 chr17 76491127 76491127 T C rs691652 DNAH17 Nonsynonymous SNV M1986V 0.816 0.831 0.806 315 958 319 0.808 237 388 132 95 126 Benign 6.402 22237 chr5 137476416 137476416 T C rs412051 BRD8 Nonsynonymous SNV Q1198R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 2.083 22238 chr16 53338410 53338412 TTC - rs56028815 CHD9 S2170del 0.064 0.044 0.037 23 75 17 0.059 11 5 0 0 0 22239 chr17 76491128 76491128 G C rs606944 DNAH17 Synonymous SNV L1985L 0.816 0.831 0.803 315 958 319 0.808 236 388 132 94 126 Benign 8.549 22240 chr16 57552088 57552088 T C rs28756858 CCDC102A Synonymous SNV A380A 0.306 0.253 0.262 112 359 97 0.287 77 57 17 7 16 4.548 22241 chr17 76495050 76495050 C T rs691291 DNAH17-AS1 0.814 0.826 0.803 315 956 317 0.808 236 386 130 94 125 4.949 22242 chr16 57555076 57555076 C T rs28446687 CCDC102A Synonymous SNV A275A 0.281 0.242 0.245 106 330 93 0.272 72 51 13 7 15 15.03 22243 chr5 137708434 137708434 C T rs4835678 KDM3B Synonymous SNV I88I 0.622 0.596 0.612 262 730 229 0.672 180 218 69 58 81 18.75 22244 chr17 76496492 76496492 A G rs2028734 DNAH17 Synonymous SNV P1845P 0.807 0.823 0.796 309 947 316 0.792 234 387 131 93 123 Benign 0.733 22245 chr16 27760935 27760935 G A rs16976970 KIAA0556 Nonsynonymous SNV R885Q 0.014 0.023 0.007 4 16 9 0.01 2 0 0 0 0 18.2 22246 chr5 137717213 137717213 G A rs10073922 KDM3B Synonymous SNV E238E 0.294 0.276 0.299 107 345 106 0.274 88 43 16 22 18 12.31 22247 chr17 76496577 76496577 C T rs2028735 DNAH17-AS1 0.506 0.549 0.786 238 594 211 0.61 231 279 100 92 109 1.779 22248 chr16 29998325 29998325 T C rs909457929 TAOK2 Nonsynonymous SNV I911T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 8.578 22249 chr17 76497100 76497100 T C rs4969139 DNAH17-AS1 0 0 0.241 0 0 0 0 71 0 0 7 0 0.374 22250 chr5 137717265 137717265 G A rs6865472 KDM3B Nonsynonymous SNV A256T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.561 22251 chr17 76497114 76497114 A G rs691127 DNAH17-AS1 0 0 0.796 0 0 0 0 234 0 0 93 0 1.865 22252 chr17 76497920 76497920 C A rs690844 DNAH17 Nonsynonymous SNV M1742I 0.603 0.62 0.551 236 708 238 0.605 162 215 72 45 65 Benign 4.18 22253 chr16 57601792 57601792 C T rs9937918 ADGRG5 Synonymous SNV R282R 0.317 0.292 0.296 122 372 112 0.313 87 61 20 11 21 12.89 22254 chr5 137754695 137754695 T C rs7726234 KDM3B Synonymous SNV G1163G 0.622 0.596 0.612 262 730 229 0.672 180 218 69 58 81 0.742 22255 chr17 76498347 76498349 CTT - rs141632101 DNAH17-AS1 0 0 0.245 0 0 0 0 72 0 0 6 0 22256 chr5 137892170 137892170 G A rs10117 HSPA9 Synonymous SNV L645L 0.491 0.482 0.398 216 577 185 0.554 117 141 45 28 58 10.57 22257 chr17 76498406 76498406 A G rs930572 DNAH17-AS1 0 0 0.5 0 0 0 0 147 0 0 35 0 1.957 22258 chr16 27840271 27840271 C T rs117918036 GSG1L Synonymous SNV A172A 0.041 0.044 0.041 23 48 17 0.059 12 2 1 0 0 18.32 22259 chr17 76498692 76498692 C T rs930571 DNAH17 Nonsynonymous SNV R1724K 0.819 0.836 0.789 311 962 321 0.797 232 392 133 93 122 Benign 4.378 22260 chr5 138209436 138209436 C G LRRTM2 Nonsynonymous SNV V272L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 22261 chr16 57689805 57689805 A C rs1801255 ADGRG1 Nonsynonymous SNV Q311H 0.266 0.271 0.245 96 312 104 0.246 72 39 9 7 9 Benign 11.7 22262 chr17 76503593 76503593 T C rs9896398 DNAH17 Nonsynonymous SNV T1511A 0.615 0.607 0.558 212 722 233 0.544 164 214 72 47 60 Benign 0.013 22263 chr5 138266552 138266552 C G rs11552052 CTNNA1 Synonymous SNV V259V 0.024 0.018 0.02 12 28 7 0.031 6 1 0 0 0 Benign 12.39 22264 chr16 21273356 21273356 A G CRYM 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 22265 chr16 4644786 4644786 G A rs139667175 C16orf96 Nonsynonymous SNV V1037I 0.013 0.005 0 2 15 2 0.005 0 0 0 0 0 0.477 22266 chr5 138713959 138713959 A C rs6596474 SLC23A1 Nonsynonymous SNV S421A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.45 22267 chr17 76521121 76521121 T C rs17729253 DNAH17 Synonymous SNV L1278L 0.308 0.294 0.35 136 362 113 0.349 103 49 18 20 28 Benign 6.609 22268 chr17 76522784 76522784 G A rs61744545 DNAH17 Synonymous SNV R1220R 0.127 0.138 0.129 54 149 53 0.138 38 13 3 2 4 6.759 22269 chr16 54967096 54967096 C A rs13336114 IRX5 Nonsynonymous SNV P254T 0.351 0.378 0.357 146 412 145 0.374 105 78 29 23 19 0.003 22270 chr17 76525565 76525565 A G rs4273108 DNAH17 Synonymous SNV L1166L 0.642 0.628 0.67 250 754 241 0.641 197 241 77 63 81 Benign 0.178 22271 chr5 138716491 138716491 C T rs72552253 SLC23A1 Synonymous SNV P131P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.43 22272 chr17 76525759 76525759 G C rs61741523 DNAH17 Nonsynonymous SNV A1101G 0.164 0.174 0.16 60 193 67 0.154 47 18 5 4 5 Benign 0.873 22273 chr16 30380872 30380872 C G rs71389465 TBC1D10B Nonsynonymous SNV E211D 0.088 0.076 0.054 34 103 29 0.087 16 3 2 0 0 23.2 22274 chr5 138717709 138717709 G A rs6886922 SLC23A1 Synonymous SNV I60I 0.038 0.031 0.071 10 45 12 0.026 21 0 0 1 0 15.47 22275 chr16 55360350 55360350 G A rs780746131 IRX6 Nonsynonymous SNV A50T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.07 22276 chr5 138728483 138728483 A G rs10078623 PROB1 Nonsynonymous SNV V763A 0.995 1 0.997 387 1168 384 0.992 293 581 192 146 192 0.005 22277 chr17 76528591 76528591 C T rs11868065 DNAH17 Synonymous SNV P1029P 0.56 0.549 0.571 235 657 211 0.603 168 181 58 43 73 Benign 7.071 22278 chr16 4431830 4431830 G A rs755829190 VASN Nonsynonymous SNV V318I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.04 22279 chr17 76528790 76528790 A G rs11651537 DNAH17 Nonsynonymous SNV I963T 0.552 0.539 0.565 228 648 207 0.585 166 178 56 42 70 Benign 1.985 22280 chr5 80604430 80604430 C T rs1055383 ZCCHC9 Synonymous SNV A145A 0.208 0.203 0.197 68 244 78 0.174 58 24 9 5 7 19.85 22281 chr5 138728533 138728533 C T rs10063870 PROB1 Synonymous SNV E746E 0.431 0.424 0.398 143 506 163 0.367 117 104 35 26 25 13.99 22282 chr16 2222286 2222286 C T rs11547311 TRAF7 Synonymous SNV H190H 0.133 0.112 0.136 59 156 43 0.151 40 10 3 3 5 15.83 22283 chr5 138729991 138729991 G C rs200694387 PROB1 Nonsynonymous SNV S260R 0.02 0.01 0.01 7 23 4 0.018 3 0 0 0 0 Benign 23.5 22284 chr5 80631642 80631642 C T rs10371 ACOT12 Nonsynonymous SNV A403T 0.125 0.104 0.184 51 147 40 0.131 54 6 0 5 4 13.24 22285 chr17 76535948 76535948 T C rs7221209 DNAH17 Synonymous SNV L849L 0.739 0.74 0.728 297 867 284 0.762 214 325 102 79 111 Benign 0.064 22286 chr16 47271876 47271876 T C rs8044842 ITFG1 Synonymous SNV T345T 0.055 0.047 0.044 16 64 18 0.041 13 0 1 0 0 11.31 22287 chr16 28328871 28328871 C T rs747755798 SBK1 Synonymous SNV Y53Y 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 12.58 22288 chr17 76557862 76557862 T C rs894966 DNAH17 Synonymous SNV K590K 0.968 0.953 0.956 368 1137 366 0.944 281 550 175 135 173 Benign 3.798 22289 chr5 138730037 138730037 T C rs11748963 PROB1 Nonsynonymous SNV Q245R 0.363 0.362 0.265 122 426 139 0.313 78 76 30 13 20 25.8 22290 chr17 76567707 76567707 T C rs894968 DNAH17 Nonsynonymous SNV T233A 0.974 0.966 0.959 380 1144 371 0.974 282 558 179 135 185 0.001 22291 chr16 28507245 28507245 A G rs151136790 APOBR Nonsynonymous SNV I295V 0.009 0.008 0 5 10 3 0.013 0 0 0 0 0 0.001 22292 chr16 2258767 2258767 G A rs11863256 MLST8 Synonymous SNV S224S 0.02 0.016 0.027 3 23 6 0.008 8 0 0 0 0 10.91 22293 chr5 138856982 138856982 C T rs7380824 STING1 Nonsynonymous SNV R174Q 0.185 0.151 0.136 72 217 58 0.185 40 21 4 0 5 28.4 22294 chr17 7658029 7658029 G T rs307624 RPL29P2 0 0 0.095 0 0 0 0 28 0 0 14 0 3.193 22295 chr16 57800892 57800892 G A rs141065689 KIFC3 Synonymous SNV G306G 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 11.23 22296 chr17 76676376 76676376 G A rs964984712 CYTH1 Synonymous SNV A279A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.94 22297 chr17 7673928 7673928 C G rs9909288 DNAH2 Synonymous SNV P1384P 0.224 0.177 0.18 73 263 68 0.187 53 29 7 8 6 Benign 12.42 22298 chr17 76799795 76799795 G A rs1057040 USP36 Nonsynonymous SNV R828C 0.529 0.544 0.405 215 621 209 0.551 119 176 57 36 62 5.039 22299 chr5 138857919 138857919 T C rs1131769 STING1 Nonsynonymous SNV H113R 0.844 0.836 0.895 345 991 321 0.885 263 417 138 118 151 Benign 0.068 22300 chr16 30680519 30680519 C A rs61738791 FBRS Synonymous SNV A832A 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 Likely benign 11.32 22301 chr16 23226787 23226787 C G rs5723 SCNN1G Synonymous SNV L649L 0.188 0.164 0.163 60 221 63 0.154 48 25 3 4 7 Benign 6.388 22302 chr16 47697618 47697618 A G rs16945474 PHKB Nonsynonymous SNV Y770C 0.063 0.057 0.051 20 74 22 0.051 15 0 2 0 0 Benign/Likely benign 24.9 22303 chr5 81608561 81608561 C T rs114714349 ATP6AP1L Nonsynonymous SNV S88F 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 31 22304 chr17 76803263 76803263 G A rs35820493 USP36 Synonymous SNV S621S 0.022 0.034 0.02 13 26 13 0.033 6 0 0 0 0 8.988 22305 chr16 55601388 55601388 A G rs1502003 CAPNS2 Synonymous SNV E240E 0.415 0.471 0.439 166 487 181 0.426 129 104 43 30 42 0.067 22306 chr5 138857925 138857925 C G rs78233829 STING1 Nonsynonymous SNV G111A 0.184 0.151 0.136 72 216 58 0.185 40 20 4 0 5 0.116 22307 chr17 7681412 7681412 C G rs7359662 DNAH2 Synonymous SNV V1755V 0.921 0.901 0.918 342 1081 346 0.877 270 497 156 123 151 Benign 4.204 22308 chr17 76817090 76817090 C T rs3744793 USP36 Nonsynonymous SNV V271I 0.348 0.383 0.405 111 408 147 0.285 119 70 27 22 18 10.8 22309 chr5 138861078 138861078 C T rs11554776 STING1 Nonsynonymous SNV R71H 0.183 0.151 0.133 71 215 58 0.182 39 20 4 0 4 13.08 22310 chr16 57937856 57937856 G C rs413562 CNGB1 Synonymous SNV A882A 0.748 0.75 0.667 282 878 288 0.723 196 330 106 74 100 Benign 6.249 22311 chr17 76970879 76970879 A G rs3744166 LGALS3BP Synonymous SNV D89D 0.965 0.99 0.966 371 1133 380 0.951 284 548 188 137 178 0.242 22312 chr16 55907811 55907811 C T rs2397965 CES5A Nonsynonymous SNV R71Q 0.168 0.159 0.15 66 197 61 0.169 44 15 5 4 5 28.8 22313 chr16 57938755 57938755 A G rs17821412 CNGB1 Synonymous SNV A833A 0.009 0.003 0.003 5 11 1 0.013 1 1 0 0 0 Likely benign 2.515 22314 chr5 138861146 138861146 C G rs7447927 STING1 Synonymous SNV V48V 0.65 0.674 0.728 270 763 259 0.692 214 251 90 80 86 Benign 5.883 22315 chr17 7722365 7722365 C T rs7213894 DNAH2 Nonsynonymous SNV T3600I 0.684 0.727 0.704 297 803 279 0.762 207 280 101 76 115 Benign 8.683 22316 chr16 57950057 57950057 G A rs376270 CNGB1 Synonymous SNV N725N 0.267 0.253 0.282 118 313 97 0.303 83 45 11 12 18 Benign 7.863 22317 chr16 31418975 31418975 C T rs45625038 ITGAD Nonsynonymous SNV R282C 0.005 0.008 0.01 7 6 3 0.018 3 0 0 0 0 32 22318 chr16 56226638 56226638 - CA rs149880726 DKFZP434H168 0.032 0.018 0.238 13 37 7 0.033 70 13 2 8 4 22319 chr5 139745154 139745154 T C rs6860077 SLC4A9 Synonymous SNV I556I 0.743 0.75 0.701 297 872 288 0.762 206 318 105 74 117 0.2 22320 chr16 56377748 56377748 A G rs1799917 GNAO1 Synonymous SNV K317K 0.313 0.273 0.289 103 367 105 0.264 85 55 11 15 14 Benign 6.688 22321 chr16 57965773 57965773 G A rs147593839 CNGB1 Nonsynonymous SNV T455M 0.01 0 0 4 12 0 0.01 0 0 0 0 0 Uncertain significance 27.3 22322 chr17 7750177 7750177 - ACCACC rs61462443 KDM6B P264_L265insPP 0.782 0.776 0.384 323 918 298 0.828 113 436 140 49 147 22323 chr5 139931628 139931628 - GT rs3085220 SRA1 Frameshift insertion V110Dfs*2 0.536 0.531 0.554 212 629 204 0.544 163 168 52 47 62 22324 chr17 7750232 7750232 T C rs11078709 KDM6B Synonymous SNV A269A 0.173 0.188 0.15 60 203 72 0.154 44 16 4 3 4 0.031 22325 chr16 3142911 3142911 C G rs11644978 ZSCAN10 Nonsynonymous SNV V10L 0.395 0.391 0.085 127 464 150 0.326 25 107 37 9 21 Benign 5.054 22326 chr16 56500132 56500132 C T rs34883368 OGFOD1 Nonsynonymous SNV P172S 0.083 0.068 0.024 30 97 26 0.077 7 5 1 0 1 8.103 22327 chr5 139931629 139931629 - G rs5871740 SRA1 Frameshift insertion V110Rfs*26 0.536 0.531 0.554 212 629 204 0.544 163 168 52 47 62 22328 chr17 7751050 7751050 C T rs62059713 KDM6B Nonsynonymous SNV P482S 0.103 0.112 0.051 24 121 43 0.062 15 6 1 3 0 17.08 22329 chr5 139936760 139936760 G T rs250426 SRA1 Stop gain S93X 0.721 0.732 0.667 295 847 281 0.756 196 317 105 73 117 14.7 22330 chr16 56500176 56500176 T A rs11544885 OGFOD1 Synonymous SNV I186I 0.083 0.068 0.024 30 97 26 0.077 7 5 1 0 1 6.407 22331 chr5 139936980 139936980 A G rs250427 SRA1 Nonsynonymous SNV C20R 0.742 0.75 0.704 296 871 288 0.759 207 318 106 74 117 6.667 22332 chr17 7751388 7751388 C A rs3744247 KDM6B Synonymous SNV P594P 0.042 0.044 0.051 17 49 17 0.044 15 2 1 0 0 9.965 22333 chr16 3165425 3165425 A G rs909410 ZNF205 Nonsynonymous SNV T43A 0.417 0.398 0.367 141 490 153 0.362 108 112 34 17 25 0.164 22334 chr16 56533804 56533804 T G rs35294865 BBS2 Synonymous SNV V471V 0.041 0.049 0.02 15 48 19 0.038 6 0 1 0 0 Benign/Likely benign 12.79 22335 chr17 7751751 7751751 C T rs3744248 KDM6B Synonymous SNV H715H 0.047 0.052 0.051 19 55 20 0.049 15 2 1 0 0 8.988 22336 chr5 139940233 139940233 G A rs250431 APBB3 Synonymous SNV H348H 0.74 0.75 0.697 296 869 288 0.759 205 316 106 74 117 0.549 22337 chr17 7754993 7754993 G A rs12939056 KDM6B Synonymous SNV L1348L 0.56 0.583 0.554 239 658 224 0.613 163 173 66 43 75 9.654 22338 chr5 139941228 139941228 A G rs250430 APBB3 Nonsynonymous SNV C238R 0.906 0.909 0.901 359 1064 349 0.921 265 480 159 120 164 8.061 22339 chr17 7760704 7760704 A G rs8522 NAA38 Nonsynonymous SNV L13P 0.183 0.193 0.224 68 215 74 0.174 66 14 6 6 3 0.059 22340 chr5 140048267 140048267 T C rs2530245 WDR55 Nonsynonymous SNV C151R 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 4.304 22341 chr17 77709339 77709339 C G rs11657217 ENPP7 Synonymous SNV A299A 0.264 0.268 0.265 103 310 103 0.264 78 45 12 7 13 4.5 22342 chr17 77709405 77709405 C T rs78553282 ENPP7 Synonymous SNV Y321Y 0.038 0.047 0.048 10 45 18 0.026 14 0 0 0 0 8.96 22343 chr16 48226479 48226479 C T rs12443685 ABCC11 Synonymous SNV K886K 0.181 0.161 0.221 90 212 62 0.231 65 17 4 9 7 11.19 22344 chr5 140167463 140167463 C T rs3733710 PCDHA1 Synonymous SNV L530L 0.575 0.594 0.568 226 675 228 0.579 167 175 68 45 64 10.51 22345 chr17 77758691 77758691 G A rs3751957 CBX2 Synonymous SNV P483P 0.191 0.193 0.187 79 224 74 0.203 55 20 10 3 5 0.743 22346 chr16 2906207 2906207 C T rs879257097 PRSS22 Nonsynonymous SNV G53S 0.003 0 0 0 4 0 0 0 0 0 0 0 26.4 22347 chr16 24800897 24800897 C T rs72770407 TNRC6A Nonsynonymous SNV P312S 0.018 0.023 0.024 12 21 9 0.031 7 0 0 0 0 3.756 22348 chr16 48234381 48234381 G A rs41282045 ABCC11 Nonsynonymous SNV R630W 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 Likely benign 29.4 22349 chr5 140168070 140168070 A G rs2240696 PCDHA1 Nonsynonymous SNV Y732C 0.575 0.594 0.568 226 675 228 0.579 167 175 68 45 64 0.078 22350 chr17 77768654 77768654 C A rs4889891 CBX8 Nonsynonymous SNV G317V 0.444 0.406 0.469 159 521 156 0.408 138 120 31 34 33 5.501 22351 chr16 29675928 29675928 C T rs1050881 SPN Synonymous SNV G293G 0.08 0.083 0.071 43 94 32 0.11 21 3 1 0 3 13.3 22352 chr16 58542901 58542901 G A rs867583 NDRG4 Synonymous SNV T273T 0.204 0.237 0.255 82 239 91 0.21 75 26 11 7 9 10.64 22353 chr5 87498849 87498849 G A rs3097146 TMEM161B Synonymous SNV L100L 0.475 0.487 0.452 175 558 187 0.449 133 134 49 30 37 12.37 22354 chr16 24801468 24801468 C G rs72770408 TNRC6A Nonsynonymous SNV T502S 0.018 0.023 0.024 12 21 9 0.031 7 0 0 0 0 4.591 22355 chr17 77808961 77808961 G A rs61737009 CBX4 Synonymous SNV H160H 0.088 0.063 0.085 38 103 24 0.097 25 4 0 0 5 4.777 22356 chr16 48248918 48248918 T C rs8047091 ABCC11 Synonymous SNV K374K 0.227 0.214 0.207 85 266 82 0.218 61 29 7 6 12 0.61 22357 chr5 140168151 140168151 G T rs2240695 PCDHA1 Nonsynonymous SNV C759F 0.575 0.594 0.568 226 675 228 0.579 167 175 68 45 64 21.9 22358 chr16 58545426 58545426 A G rs42945 NDRG4 Synonymous SNV S340S 0.58 0.56 0.629 252 681 215 0.646 185 210 61 55 78 0.757 22359 chr17 77926491 77926491 G A rs4889804 TBC1D16 Synonymous SNV D302D 0.248 0.299 0.299 124 291 115 0.318 88 35 18 14 15 13.92 22360 chr16 48250026 48250026 G T rs11863236 ABCC11 Nonsynonymous SNV A317E 0.108 0.107 0.112 44 127 41 0.113 33 8 2 0 3 8.95 22361 chr16 58549932 58549932 T C rs4784046 SETD6 Synonymous SNV L89L 0.44 0.419 0.531 200 516 161 0.513 156 179 59 52 70 0.024 22362 chr17 77983967 77983967 A G rs59152781 TBC1D16 Synonymous SNV S257S 0.023 0.029 0.044 14 27 11 0.036 13 1 0 0 0 7.57 22363 chr16 56660685 56660685 A G rs117777471 MT1E Synonymous SNV K112K 0.069 0.068 0.058 35 81 26 0.09 17 1 0 0 0 4.219 22364 chr16 58552921 58552921 G A rs3607 SETD6 Synonymous SNV E470E 0.566 0.57 0.626 251 665 219 0.644 184 189 63 55 75 0.201 22365 chr17 78013724 78013724 G C rs2289527 CCDC40 Synonymous SNV V69V 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 Benign 0.537 22366 chr5 140174622 140174622 G A rs9686540 PCDHA2 Nonsynonymous SNV E25K 0.576 0.594 0.565 227 676 228 0.582 166 175 68 44 64 2.307 22367 chr5 89783821 89783821 C G rs150301152 POLR3G Nonsynonymous SNV T41R 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 28.9 22368 chr16 48256602 48256602 T C rs16945974 ABCC11 Synonymous SNV Q228Q 0.111 0.107 0.112 45 130 41 0.115 33 8 2 0 3 0.03 22369 chr16 336445 336445 C T rs373601500 PDIA2 Synonymous SNV D404D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.18 22370 chr17 78022555 78022555 G C rs201042940 CCDC40 Nonsynonymous SNV D284H 0.005 0.01 0.01 2 6 4 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 22371 chr16 58575489 58575489 G A rs11540994 CNOT1 Synonymous SNV Y1567Y 0.342 0.391 0.388 152 402 150 0.39 114 67 27 15 30 7.581 22372 chr16 48265777 48265777 C T rs16945988 ABCC11 Nonsynonymous SNV R19H 0.11 0.107 0.116 45 129 41 0.115 34 8 2 0 3 23.1 22373 chr5 140174865 140174865 G C rs11167600 PCDHA2 Nonsynonymous SNV V106L 0.576 0.594 0.568 228 676 228 0.585 167 175 68 45 64 6.609 22374 chr16 58577316 58577316 A - rs5817153 CNOT1 L1544Cfs*11 0.221 0.185 0.194 103 260 71 0.264 57 28 7 2 13 22375 chr16 56839439 56839439 C T rs1803870 NUP93 Synonymous SNV Y5Y 0.108 0.089 0.088 38 127 34 0.097 26 4 0 0 1 11.2 22376 chr17 78023722 78023722 C T rs2289531 CCDC40 Synonymous SNV F291F 0.118 0.104 0.116 42 139 40 0.108 34 1 2 3 2 Benign 13.56 22377 chr16 58577421 58577421 C T rs41260 CNOT1 Synonymous SNV A1508A 0.566 0.573 0.626 252 664 220 0.646 184 189 64 56 76 3.6 22378 chr16 3405986 3405986 G A rs1218762 OR2C1 Nonsynonymous SNV G16S 0.234 0.245 0.214 92 275 94 0.236 63 28 9 9 7 23.5 22379 chr5 140181734 140181734 A G rs3733708 PCDHA3 Nonsynonymous SNV I318V 0.576 0.594 0.565 227 676 228 0.582 166 175 68 44 64 23.3 22380 chr17 78055758 78055758 T G rs35578653 CCDC40 Synonymous SNV A630A 0.579 0.534 0.585 219 680 205 0.562 172 198 63 53 67 Benign 1.359 22381 chr16 58579274 58579274 C T rs246258 CNOT1 Synonymous SNV L1371L 0.222 0.185 0.241 99 261 71 0.254 71 29 7 8 12 13.54 22382 chr17 78059889 78059889 G A rs60684213 CCDC40 Nonsynonymous SNV V775M 0.113 0.13 0.112 46 133 50 0.118 33 3 4 4 5 Benign 19.58 22383 chr5 140181892 140181892 T C rs3733707 PCDHA3 Synonymous SNV A370A 0.576 0.594 0.568 228 676 228 0.585 167 175 68 45 64 0.003 22384 chr16 58587737 58587737 C T rs11866002 CNOT1 Synonymous SNV Q968Q 0.342 0.391 0.384 152 402 150 0.39 113 67 27 15 30 10.65 22385 chr5 140182101 140182101 G T rs7701755 PCDHA3 Nonsynonymous SNV S440I 0.576 0.594 0.568 228 676 228 0.585 167 175 68 45 64 22.6 22386 chr16 58713798 58713798 G A rs7191331 SLC38A7 Nonsynonymous SNV T78I 0.168 0.188 0.19 64 197 72 0.164 56 17 10 3 6 12.22 22387 chr17 78071052 78071052 T C rs12952612 CCDC40 Synonymous SNV D1010D 0.779 0.771 0.796 306 914 296 0.785 234 350 111 93 120 Benign 0.016 22388 chr16 56913513 56913513 C T rs5801 SLC12A3 Synonymous SNV T465T 0.15 0.148 0.099 66 176 57 0.169 29 16 3 1 2 Benign 14.16 22389 chr17 78073355 78073355 A G rs56407805 CCDC40 Synonymous SNV T1070T 0.301 0.284 0.31 112 353 109 0.287 91 56 13 13 14 Benign 0.526 22390 chr16 3406516 3406516 A G rs11643487 OR2C1 Synonymous SNV T192T 0.292 0.307 0.259 105 343 118 0.269 76 57 17 10 9 0.003 22391 chr5 140183058 140183058 G A rs2240694 PCDHA3 Nonsynonymous SNV C759Y 0.574 0.594 0.565 226 674 228 0.579 166 175 68 44 64 23 22392 chr17 78073562 78073562 A G rs2304854 CCDC40 Synonymous SNV P1139P 0.508 0.503 0.449 197 596 193 0.505 132 149 50 29 48 Benign 0.059 22393 chr16 3406626 3406626 G A rs11648783 OR2C1 Nonsynonymous SNV R229H 0.235 0.245 0.214 92 276 94 0.236 63 28 9 9 7 0.089 22394 chr17 78078651 78078651 G A rs200586324 GAA Nonsynonymous SNV R89H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 29.5 22395 chr5 140186937 140186937 G T rs11167605 PCDHA4 Nonsynonymous SNV E55D 0.443 0.451 0.391 170 520 173 0.436 115 111 40 20 38 20.7 22396 chr16 27761090 27761090 G T rs139603388 KIAA0556 Nonsynonymous SNV D937Y 0.009 0.013 0.007 7 11 5 0.018 2 0 0 0 0 Benign 23.2 22397 chr17 78078709 78078709 T C rs1800300 GAA Synonymous SNV C108C 0.777 0.773 0.793 306 912 297 0.785 233 349 112 92 120 Benign 0.004 22398 chr16 3434699 3434699 A G rs27230 ZSCAN32 Nonsynonymous SNV Y43H 0.153 0.169 0.129 61 180 65 0.156 38 10 4 1 4 4.878 22399 chr17 78079597 78079597 A G rs1042393 GAA Nonsynonymous SNV H199R 0.773 0.768 0.779 303 907 295 0.777 229 345 110 89 117 Benign 0.001 22400 chr5 140186979 140186979 G A rs3822355 PCDHA4 Synonymous SNV K69K 0.48 0.479 0.425 199 563 184 0.51 125 176 67 40 63 8.001 22401 chr16 30106716 30106716 C A rs184524218 YPEL3 Nonsynonymous SNV V30L 0.02 0.021 0.014 11 23 8 0.028 4 1 0 0 0 14.6 22402 chr16 4936026 4936026 T G PPL Nonsynonymous SNV H877P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.361 22403 chr16 27763110 27763110 T C rs2289875 KIAA0556 Synonymous SNV S1139S 0.03 0.031 0.051 19 35 12 0.049 15 0 0 0 1 0.011 22404 chr16 3447282 3447282 C G rs27241 ZSCAN32 Nonsynonymous SNV E92D 0.234 0.247 0.197 88 275 95 0.226 58 25 9 6 8 11.53 22405 chr5 140186980 140186980 G A rs3822354 PCDHA4 Nonsynonymous SNV G70S 0.5 0.5 0.429 203 587 192 0.521 126 176 67 39 63 10.64 22406 chr17 78079669 78079669 G A rs1042395 GAA Nonsynonymous SNV R223H 0.773 0.768 0.779 302 907 295 0.774 229 345 110 89 116 Benign/Likely benign 11.39 22407 chr16 58768129 58768129 C A rs11558171 GOT2 Nonsynonymous SNV A2S 0.06 0.07 0 29 71 27 0.074 0 5 2 0 4 25.4 22408 chr16 4936027 4936027 G T PPL Nonsynonymous SNV H877N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.63 22409 chr5 140186981 140186981 - ACA rs200172095 PCDHA4 G70_R71insH 0.497 0.503 0.439 206 584 193 0.528 129 176 67 40 63 22410 chr17 78081661 78081661 A T rs1800303 GAA Synonymous SNV A307A 0.089 0.096 0.085 39 104 37 0.1 25 0 2 4 1 Benign 0.151 22411 chr16 30364805 30364805 C T rs13330462 CD2BP2 Nonsynonymous SNV G231D 0.048 0.039 0.031 9 56 15 0.023 9 3 0 0 0 12.85 22412 chr5 140186985 140186985 C - rs543774145 PCDHA4 G72Efs*6 0.48 0.484 0.439 199 563 186 0.51 129 175 67 40 63 22413 chr17 78082504 78082504 G A rs1800304 GAA Synonymous SNV Q401Q 0.773 0.768 0.782 305 907 295 0.782 230 345 110 90 119 Benign 0.221 22414 chr5 140186989 140186990 GG - rs563991668 PCDHA4 G73Pfs*54 0.442 0.466 0.439 181 519 179 0.464 129 176 68 40 63 22415 chr17 78083791 78083791 C T rs1800305 GAA Synonymous SNV Y458Y 0.088 0.096 0.088 39 103 37 0.1 26 0 2 4 1 Benign 8.471 22416 chr16 65022114 65022114 C T rs28216 CDH11 Synonymous SNV S189S 0.48 0.482 0.398 178 563 185 0.456 117 136 41 23 39 19.86 22417 chr5 140187048 140187048 G C rs3822349 PCDHA4 Synonymous SNV R92R 0.571 0.594 0.565 226 670 228 0.579 166 176 68 44 64 0.126 22418 chr17 78084769 78084769 G A rs1042396 GAA Synonymous SNV R527R 0.264 0.271 0.344 108 310 104 0.277 101 46 19 15 18 Benign 6.384 22419 chr16 27789278 27789278 G A rs2287790 KIAA0556 Nonsynonymous SNV V1597I 0.009 0.016 0.017 8 10 6 0.021 5 0 0 0 0 9.172 22420 chr16 65022234 65022234 C T rs1130821 CDH11 Nonsynonymous SNV M149I 0.114 0.12 0.156 45 134 46 0.115 46 6 1 3 1 27.9 22421 chr5 140187102 140187102 A G rs3822347 PCDHA4 Synonymous SNV V110V 0.571 0.594 0.565 226 670 228 0.579 166 176 68 44 64 6.714 22422 chr17 78091405 78091405 G A rs1126690 GAA Nonsynonymous SNV V780I 0.779 0.771 0.799 307 915 296 0.787 235 350 111 93 121 Benign 0.4 22423 chr5 140187322 140187322 C T rs3822346 PCDHA4 Nonsynonymous SNV P184S 0.577 0.594 0.568 228 677 228 0.585 167 176 68 45 64 0.021 22424 chr16 3586230 3586230 C T rs9790 CLUAP1 Nonsynonymous SNV R235W 0.201 0.198 0.173 82 236 76 0.21 51 19 8 5 8 26.9 22425 chr17 78092063 78092063 G A rs1042397 GAA Synonymous SNV G851G 0.698 0.711 0.684 284 820 273 0.728 201 276 95 72 104 Benign 3.77 22426 chr16 65025718 65025718 G A rs35195 CDH11 Nonsynonymous SNV T129M 0.404 0.396 0.354 142 474 152 0.364 104 96 28 18 23 28.2 22427 chr5 140201420 140201420 T C rs11958868 PCDHA5 Synonymous SNV L20L 0.577 0.594 0.568 228 677 228 0.585 167 176 68 45 64 0.005 22428 chr17 78113832 78113832 G A rs2241886 EIF4A3 Synonymous SNV V160V 0.212 0.234 0.293 84 249 90 0.215 86 34 13 6 10 7.662 22429 chr16 2812691 2812691 G C rs748426167 SRRM2 Nonsynonymous SNV R721T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.362 22430 chr5 140203432 140203432 C T rs4141841 PCDHA5 Nonsynonymous SNV A691V 0.575 0.594 0.561 226 675 228 0.579 165 176 68 44 64 17 22431 chr17 78157995 78157995 G A rs4889990 CARD14 Synonymous SNV E211E 0.394 0.409 0.476 160 462 157 0.41 140 93 35 31 32 Benign 10.13 22432 chr17 78171944 78171944 G C rs2066964 CARD14 Nonsynonymous SNV R310S 0.449 0.43 0.401 177 527 165 0.454 118 101 36 25 43 Benign 0.077 22433 chr5 140307284 140307284 G A rs155361 PCDHAC1 Synonymous SNV Q269Q 0.516 0.565 0.527 215 606 217 0.551 155 157 63 46 61 0.172 22434 chr17 78184393 78184393 C T rs7503034 SGSH Nonsynonymous SNV R456H 0.335 0.354 0.374 152 393 136 0.39 110 69 22 19 29 Benign 3.78 22435 chr16 31228299 31228299 - G PYDC1 Frameshift insertion E18Gfs*20 0.002 0 0 0 2 0 0 0 0 0 0 0 22436 chr5 140307746 140307746 C G rs155820 PCDHAC1 Synonymous SNV P423P 0.363 0.385 0.337 139 426 148 0.356 99 78 33 17 23 8.975 22437 chr16 66503705 66503705 C A rs200706119 BEAN1 Nonsynonymous SNV R76S 0.006 0.01 0.01 3 7 4 0.008 3 0 0 0 0 23 22438 chr16 30495496 30495496 C T rs7191097 ITGAL Synonymous SNV P223P 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 10.18 22439 chr5 140307969 140307969 C G rs246074 PCDHAC1 Nonsynonymous SNV L498V 0.515 0.565 0.527 215 605 217 0.551 155 157 63 46 61 0.443 22440 chr17 78210776 78210776 C T rs3924207 SLC26A11 Synonymous SNV F262F 0.063 0.049 0.048 32 74 19 0.082 14 2 0 0 2 18.14 22441 chr16 5064917 5064917 C T rs2012649 SEC14L5 Synonymous SNV A679A 0.227 0.214 0.221 94 266 82 0.241 65 24 12 8 12 8.935 22442 chr17 78293189 78293189 A T rs55996424 RNF213 Nonsynonymous SNV K1034M 0.233 0.203 0.173 74 273 78 0.19 51 28 7 4 3 4.506 22443 chr16 66503875 66503875 G A rs79938539 BEAN1-AS1 0.147 0.141 0 70 173 54 0.179 0 15 4 0 5 4.889 22444 chr16 50659411 50659411 G A rs749813334 NKD1 Nonsynonymous SNV V128M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 22445 chr5 140346468 140346468 T A rs155364 PCDHAC2 Synonymous SNV P39P 0.52 0.57 0.534 215 610 219 0.551 157 159 63 46 61 6.383 22446 chr16 50745929 50745929 C T rs5743277 NOD2 Nonsynonymous SNV R676C 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 22447 chr16 30616317 30616317 A G rs34007971 ZNF689 Synonymous SNV G257G 0.005 0.008 0.003 6 6 3 0.015 1 0 0 0 0 0.132 22448 chr17 78298938 78298938 A G rs6565674 RNF213 Nonsynonymous SNV N1045D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.687 22449 chr5 140346712 140346712 T C rs155808 PCDHAC2 Synonymous SNV L121L 0.38 0.398 0.354 148 446 153 0.379 104 85 34 18 26 6.836 22450 chr16 66948130 66948130 G A rs2271023 CDH16 Nonsynonymous SNV H160Y 0.032 0.049 0.031 21 38 19 0.054 9 0 3 0 0 0.006 22451 chr5 140347053 140347053 C T rs155807 PCDHAC2 Synonymous SNV I234I 0.363 0.385 0.347 139 426 148 0.356 102 77 33 17 23 11.45 22452 chr17 78302157 78302157 C A rs8082521 RNF213 Nonsynonymous SNV Q1133K 0.727 0.734 0.711 308 853 282 0.79 209 308 103 76 125 0.001 22453 chr5 93807265 93807265 G A rs79996980 KIAA0825 Nonsynonymous SNV P543S 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 15.24 22454 chr16 67006838 67006838 G A rs3848289 CES3 Synonymous SNV R173R 0.046 0.049 0.054 26 54 19 0.067 16 0 1 1 0 2.248 22455 chr16 3656557 3656557 G A rs28516461 SLX4 Synonymous SNV H226H 0.02 0.016 0.061 15 24 6 0.038 18 0 0 1 0 Benign 1.405 22456 chr5 140433389 140433389 C G rs246679 PCDHB1 Nonsynonymous SNV F778L 0.052 0.052 0.051 30 61 20 0.077 15 0 1 0 1 17.56 22457 chr16 30715519 30715519 C G rs79656879 SRCAP Synonymous SNV P63P 0.004 0.008 0 6 5 3 0.015 0 0 0 0 0 Benign 13.49 22458 chr17 78305871 78305871 G A rs10782008 RNF213 Nonsynonymous SNV V1195M 0.688 0.682 0.653 291 808 262 0.746 192 284 87 65 114 6.078 22459 chr16 28506428 28506428 C T rs151233 APOBR Synonymous SNV L22L 0.186 0.177 0.041 69 218 68 0.177 12 28 7 4 7 14.79 22460 chr16 67037035 67037035 A G rs61744392 CES4A Synonymous SNV L153L 0.012 0.013 0.014 4 14 5 0.01 4 0 1 0 0 1.421 22461 chr16 5097947 5097947 A G rs1127920 C16orf89 Nonsynonymous SNV L296S 0.302 0.286 0.316 119 355 110 0.305 93 48 18 9 20 17.54 22462 chr5 93812816 93812816 C T rs77179804 KIAA0825 Synonymous SNV E409E 0.022 0.026 0.02 7 26 10 0.018 6 0 0 0 0 15.58 22463 chr16 67037054 67037054 A C rs61744399 CES4A Nonsynonymous SNV S160R 0.06 0.076 0.061 35 70 29 0.09 18 4 3 2 1 0.729 22464 chr5 140480852 140480852 G A rs12515688 PCDHB3 Nonsynonymous SNV E207K 0.204 0.19 0.19 97 240 73 0.249 56 25 8 4 7 19.62 22465 chr17 78306102 78306102 G C rs9913636 RNF213 Nonsynonymous SNV E1272Q 0.523 0.51 0.48 212 614 196 0.544 141 164 51 36 60 0.263 22466 chr16 5075633 5075633 G A rs7188856 NAGPA Nonsynonymous SNV T465I 0.268 0.294 0.279 107 315 113 0.274 82 37 19 10 15 Benign 0.005 22467 chr16 30732558 30732558 C A rs149248373 SRCAP Nonsynonymous SNV T1101K 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 Benign/Likely benign 22.8 22468 chr17 78306280 78306280 A G rs8074015 RNF213 Nonsynonymous SNV D1331G 0.724 0.732 0.707 308 850 281 0.79 208 305 102 75 125 0.049 22469 chr16 28549508 28549508 G A rs151227 NUPR1 Synonymous SNV P45P 0.182 0.18 0.19 76 214 69 0.195 56 25 5 7 7 2.853 22470 chr5 140502177 140502177 G A rs3776100 PCDHB4 Synonymous SNV L199L 0.239 0.255 0.252 93 280 98 0.238 74 30 13 8 7 6.988 22471 chr16 67189377 67189377 G A rs201869508 TRADD Nonsynonymous SNV S111L 0.006 0.013 0 9 7 5 0.023 0 0 0 0 0 9.672 22472 chr5 94749723 94749723 G A rs7726891 FAM81B Synonymous SNV A122A 0.339 0.313 0.405 163 398 120 0.418 119 72 18 20 40 10.98 22473 chr17 78306308 78306308 C G rs9908287 RNF213 Synonymous SNV V1340V 0.688 0.682 0.653 292 808 262 0.749 192 284 87 65 114 8.91 22474 chr5 140502343 140502343 C T rs3733698 PCDHB4 Nonsynonymous SNV P255S 0.204 0.19 0.19 97 240 73 0.249 56 25 8 4 7 22.9 22475 chr17 78311508 78311508 G A rs4890009 RNF213 Synonymous SNV A1550A 0.727 0.729 0.704 308 853 280 0.79 207 308 101 74 125 9.003 22476 chr16 67207933 67207933 C T rs2233455 NOL3 Synonymous SNV S54S 0.052 0.07 0.051 23 61 27 0.059 15 2 2 1 0 10.15 22477 chr16 30776511 30776511 C T rs150097902 RNF40 Nonsynonymous SNV L261F 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 27 22478 chr16 57758732 57758732 C A rs2923144 DRC7 Nonsynonymous SNV N516K 0.12 0.094 0.105 48 141 36 0.123 31 6 4 1 3 24.4 22479 chr17 78313562 78313562 C T rs34399489 RNF213 Synonymous SNV L1799L 0.026 0.021 0.02 8 30 8 0.021 6 0 0 0 0 12.32 22480 chr16 3724465 3724465 G C rs13926 TRAP1 Nonsynonymous SNV R254G 0.388 0.409 0.337 150 456 157 0.385 99 99 28 18 28 Benign 2.003 22481 chr16 67218375 67218375 T G rs16957210 EXOC3L1 Synonymous SNV L721L 0.058 0.073 0.051 34 68 28 0.087 15 4 3 1 1 0.372 22482 chr5 140502344 140502344 C T rs3733697 PCDHB4 Nonsynonymous SNV P255L 0.204 0.19 0.19 97 240 73 0.249 56 25 8 4 7 23.6 22483 chr17 78319136 78319136 G A rs9674961 RNF213 Nonsynonymous SNV S2334N 0.706 0.708 0.677 298 829 272 0.764 199 296 96 70 118 0.002 22484 chr5 94956923 94956923 G A rs201990735 GPR150 Nonsynonymous SNV R315Q 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 26 22485 chr16 30779309 30779309 T C rs140066306 RNF40 Synonymous SNV L408L 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.175 22486 chr16 3777836 3777836 T C rs55916120 CREBBP Synonymous SNV E2366E 0.014 0.013 0 1 17 5 0.003 0 1 0 0 0 Benign 0.004 22487 chr16 67219107 67219107 G C rs9939768 EXOC3L1 Nonsynonymous SNV Q561E 0.054 0.078 0.051 32 63 30 0.082 15 2 3 1 0 0.055 22488 chr5 140530529 140530529 G A rs3776096 PCDHB6 Nonsynonymous SNV V231I 0.222 0.245 0.259 76 261 94 0.195 76 26 8 9 3 14.51 22489 chr17 78319380 78319380 G C rs4890012 RNF213 Synonymous SNV P2415P 0.686 0.682 0.646 291 805 262 0.746 190 283 87 64 113 9.374 22490 chr16 28995583 28995583 G A rs149610167 SPNS1 Nonsynonymous SNV R443H 0.004 0.005 0.02 2 5 2 0.005 6 0 0 0 0 34 22491 chr17 78320219 78320219 C T rs202096577 RNF213 Nonsynonymous SNV A2695V 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 31 22492 chr5 140530852 140530852 G C rs246708 PCDHB6 Synonymous SNV V338V 0.23 0.214 0.228 108 270 82 0.277 67 26 11 5 13 0.052 22493 chr16 67222676 67222676 G A rs13334403 EXOC3L1 Synonymous SNV A125A 0.029 0.049 0.027 18 34 19 0.046 8 0 1 0 0 5.094 22494 chr5 140552558 140552558 T C rs17096945 PCDHB7 Synonymous SNV L48L 0.193 0.195 0.194 92 226 75 0.236 57 22 9 4 10 0.004 22495 chr16 67233243 67233243 G A rs75193761 ELMO3 Nonsynonymous SNV R5Q 0.011 0.013 0.01 4 13 5 0.01 3 0 1 0 0 26.4 22496 chr16 320992 320992 C A rs61759901 RGS11 Stop gain E140X 0.004 0.016 0.01 1 5 6 0.003 3 0 0 0 0 38 22497 chr17 78321462 78321462 C T rs778158475 RNF213 Synonymous SNV Y3109Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 22498 chr5 140552774 140552774 G A rs17286891 PCDHB7 Nonsynonymous SNV E120K 0.102 0.109 0.112 48 120 42 0.123 33 7 3 2 3 23 22499 chr17 78327358 78327358 G A rs7216493 RNF213 Synonymous SNV E3490E 0.763 0.789 0.724 321 896 303 0.823 213 340 119 80 137 7.631 22500 chr17 78337058 78337058 G C rs35332090 RNF213 Nonsynonymous SNV V3838L 0.138 0.13 0.133 58 162 50 0.149 39 12 2 4 4 0.484 22501 chr16 418597 418597 G C rs11557302 MRPL28 Nonsynonymous SNV D160E 0.03 0.026 0.031 4 35 10 0.01 9 0 0 1 0 12.64 22502 chr5 95234350 95234350 A G rs3777204 ELL2 Synonymous SNV P373P 0.271 0.279 0.289 111 318 107 0.285 85 41 17 11 12 0.017 22503 chr5 140553581 140553581 G C rs2910313 PCDHB7 Nonsynonymous SNV V389L 0.597 0.602 0.561 250 701 231 0.641 165 205 68 48 83 0.698 22504 chr5 95234377 95234377 C T rs3777203 ELL2 Synonymous SNV P364P 0.245 0.255 0.259 100 288 98 0.256 76 38 16 11 9 13.91 22505 chr17 78354661 78354661 C T rs4889848 RNF213 Synonymous SNV H4557H 0.837 0.844 0.806 353 983 324 0.905 237 416 135 93 160 11.76 22506 chr16 67234134 67234134 A G rs8058861 ELMO3 Nonsynonymous SNV N95D 0.06 0.078 0.051 31 70 30 0.079 15 2 3 1 0 8.815 22507 chr17 78357478 78357478 A G rs12944088 RNF213 Nonsynonymous SNV H4691R 0.034 0.029 0.02 10 40 11 0.026 6 0 0 0 0 5.604 22508 chr5 95234392 95234392 A C rs3777202 ELL2 Synonymous SNV S359S 0.245 0.255 0.265 100 288 98 0.256 78 38 16 11 9 0.039 22509 chr5 140563173 140563173 G T rs28664170 PCDHB16 Nonsynonymous SNV V347L 0.2 0.216 0.201 100 235 83 0.256 59 24 11 4 11 8.175 22510 chr16 53682949 53682949 C T rs2302677 RPGRIP1L Nonsynonymous SNV R744Q 0.059 0.06 0.068 28 69 23 0.072 20 3 1 0 0 Benign 31 22511 chr16 53656135 53656135 G C rs111775292 RPGRIP1L Nonsynonymous SNV T1109S 0.075 0.086 0 21 88 33 0.054 0 17 6 0 2 Benign 0.002 22512 chr5 95236415 95236415 G A rs17085249 ELL2 Synonymous SNV D312D 0.248 0.255 0.248 98 291 98 0.251 73 38 16 10 8 0.077 22513 chr16 4242394 4242394 G A rs377461792 SRL Synonymous SNV D394D 0.003 0 0 0 3 0 0 0 0 0 0 0 4.443 22514 chr16 67241930 67241930 C T rs34595673 LRRC29 Nonsynonymous SNV G117S 0.031 0.047 0.034 19 36 18 0.049 10 0 1 0 0 22.7 22515 chr17 78363711 78363711 G A rs36046948 RNF213 Synonymous SNV L5093L 0.033 0.029 0.02 10 39 11 0.026 6 0 0 0 0 9.568 22516 chr5 95236459 95236459 C T rs3815768 ELL2 Nonsynonymous SNV A298T 0.248 0.255 0.248 98 291 98 0.251 73 38 16 10 8 15 22517 chr5 140572668 140572668 C T rs597064 PCDHB10 Synonymous SNV N181N 0.44 0.448 0.459 186 517 172 0.477 135 109 36 30 51 1.454 22518 chr16 424783 424783 G C PGAP6 Nonsynonymous SNV L517V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.58 22519 chr17 78388947 78388947 G T rs41299328 RNF213-AS1 0.004 0.01 0.014 4 5 4 0.01 4 0 0 0 0 1.759 22520 chr16 53859782 53859782 C T rs748048648 FTO Synonymous SNV L18L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.67 22521 chr16 67265360 67265360 C A rs6499118 FHOD1 Synonymous SNV A826A 0.059 0.078 0.058 35 69 30 0.09 17 4 3 1 1 20.8 22522 chr5 140579358 140579358 A G rs3756323 PCDHB11 Nonsynonymous SNV Q4R 0.2 0.214 0.201 100 235 82 0.256 59 24 10 4 11 0.008 22523 chr17 78444658 78444658 T G rs12943620 NPTX1 Synonymous SNV G418G 0.755 0.755 0.772 305 886 290 0.782 227 329 108 88 117 0.137 22524 chr16 67268008 67268008 G A rs77958237 FHOD1 Nonsynonymous SNV P533L 0.036 0.052 0.031 19 42 20 0.049 9 1 1 0 0 0.005 22525 chr5 95236474 95236474 G T rs113894818 ELL2 Nonsynonymous SNV P293T 0.021 0.034 0.014 11 25 13 0.028 4 0 0 0 0 11.91 22526 chr17 78444679 78444679 T C rs28364735 NPTX1 Synonymous SNV E411E 0.291 0.292 0.269 97 342 112 0.249 79 49 15 13 16 4.547 22527 chr17 78445702 78445702 A G rs1131609 NPTX1 Synonymous SNV L303L 0.718 0.729 0.745 289 843 280 0.741 219 298 99 77 105 7.566 22528 chr5 140683265 140683265 G A rs11952797 SLC25A2 Synonymous SNV A56A 0.641 0.638 0.704 259 752 245 0.664 207 238 79 77 80 1.149 22529 chr17 78449948 78449948 C T rs144443274 NPTX1 Nonsynonymous SNV G100D 0.209 0.221 0.255 71 245 85 0.182 75 27 6 9 9 20.7 22530 chr16 67286590 67286590 G C rs61740454 SLC9A5 Synonymous SNV L111L 0.036 0.052 0.031 19 42 20 0.049 9 1 1 0 0 6.133 22531 chr5 95733112 95733112 A G rs6233 PCSK1 Synonymous SNV N550N 0.386 0.383 0.364 173 453 147 0.444 107 89 26 25 39 Benign/Likely benign 6.661 22532 chr5 140710705 140710705 G A rs2472647 PCDHGA1 Nonsynonymous SNV V152I 0.959 0.956 0.969 372 1126 367 0.954 285 539 175 138 177 5.735 22533 chr17 78519519 78519519 T C rs61750765 RPTOR Synonymous SNV F30F 0.12 0.109 0.177 41 141 42 0.105 52 8 0 6 1 7.888 22534 chr5 96116808 96116808 G A rs17481856 ERAP1 Synonymous SNV L848L 0.144 0.148 0.16 55 169 57 0.141 47 13 2 4 3 2.71 22535 chr16 67304915 67304915 A G rs1061356 SLC9A5 Synonymous SNV L730L 0.017 0.013 0.024 9 20 5 0.023 7 0 1 0 1 14.17 22536 chr16 58540875 58540875 G A rs17821543 NDRG4 Synonymous SNV V210V 0.113 0.12 0.105 60 133 46 0.154 31 9 4 2 1 12.57 22537 chr17 78820329 78820329 C T rs3751945 RPTOR Synonymous SNV G423G 0.606 0.612 0.571 251 712 235 0.644 168 230 62 49 82 21.2 22538 chr5 140711853 140711853 G A rs17097187 PCDHGA1 Synonymous SNV A534A 0.09 0.07 0.075 23 106 27 0.059 22 7 0 0 0 3.56 22539 chr16 67316234 67316234 C T rs11860295 PLEKHG4 Nonsynonymous SNV T331I 0.082 0.081 0.105 46 96 31 0.118 31 4 1 0 5 Likely benign 20.7 22540 chr17 78865546 78865546 T C rs2289764 RPTOR Synonymous SNV L512L 0.252 0.229 0.241 102 296 88 0.262 71 37 10 10 14 0.012 22541 chr16 31090094 31090094 G A rs78522165 ZNF646 Nonsynonymous SNV A817T 0.087 0.094 0.065 22 102 36 0.056 19 3 2 1 2 0.141 22542 chr5 140725828 140725828 C T rs7736541 PCDHGA3 Nonsynonymous SNV A743V 0.417 0.419 0.395 162 489 161 0.415 116 102 37 30 27 15.25 22543 chr17 78896529 78896529 C T rs2271603 RPTOR Synonymous SNV T684T 0.322 0.344 0.367 129 378 132 0.331 108 53 21 16 22 13.76 22544 chr16 30005315 30005315 T C HIRIP3 Nonsynonymous SNV N384S 0.012 0.005 0 4 14 2 0.01 0 0 0 0 0 3.244 22545 chr17 78919558 78919558 C T rs1567962 RPTOR Synonymous SNV A881A 0.374 0.365 0.367 141 439 140 0.362 108 79 28 22 29 20.3 22546 chr16 67318242 67318242 A G rs8044843 PLEKHG4 Nonsynonymous SNV D444G 0.114 0.122 0.109 60 134 47 0.154 32 9 2 1 5 Likely benign 5.616 22547 chr17 78921117 78921117 C T rs4969231 RPTOR Synonymous SNV N919N 0.301 0.346 0.364 125 353 133 0.321 107 57 23 16 15 14.32 22548 chr5 140739779 140739779 C G rs17097231 PCDHGB2 Nonsynonymous SNV P26R 0.158 0.128 0.105 56 186 49 0.144 31 17 4 1 5 0.046 22549 chr17 78935197 78935197 C T rs9899178 RPTOR Synonymous SNV R1045R 0.348 0.352 0.286 140 409 135 0.359 84 82 26 9 23 16.9 22550 chr16 55731835 55731835 G A rs5569 SLC6A2 Synonymous SNV T324T 0.281 0.294 0.31 89 330 113 0.228 91 51 18 13 8 Likely benign 13.79 22551 chr17 78936266 78936266 A G rs142332444 RPTOR Nonsynonymous SNV N1075S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.109 22552 chr16 31090929 31090929 G A rs141205176 ZNF646 Nonsynonymous SNV R1095H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 32 22553 chr5 140750044 140750044 T C rs6860609 PCDHGB3 Nonsynonymous SNV V28A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 22554 chr16 67318630 67318630 T G rs61738731 PLEKHG4 Synonymous SNV A488A 0.014 0.021 0.01 11 17 8 0.028 3 0 1 0 0 6.783 22555 chr5 140750517 140750517 C T rs78666647 PCDHGB3 Synonymous SNV L186L 0.066 0.047 0.048 20 77 18 0.051 14 2 0 0 0 8.876 22556 chr16 67320223 67320223 G A rs3868142 PLEKHG4 Nonsynonymous SNV R749H 0.082 0.081 0.105 45 96 31 0.115 31 4 1 0 5 Likely benign 23.6 22557 chr5 96127833 96127833 G A rs3213809 ERAP1 Synonymous SNV H417H 0.149 0.154 0.16 56 175 59 0.144 47 13 2 4 3 8.928 22558 chr17 78942655 78942655 - GAGCA rs112148409 LOC400627 0 0 0.677 0 0 0 0 199 0 0 65 0 22559 chr17 78942679 78942679 T C rs9898301 LOC400627 0 0 0.677 0 0 0 0 199 0 0 65 0 0.858 22560 chr16 56485554 56485554 C G rs11076155 OGFOD1 Synonymous SNV G10G 0.116 0.112 0.092 34 136 43 0.087 27 8 1 1 1 8.474 22561 chr16 4390358 4390358 G T rs11989 CORO7-PAM16, PAM16 Nonsynonymous SNV Q114K 0.084 0.052 0.085 30 99 20 0.077 25 2 0 2 1 19.64 22562 chr5 140751128 140751128 C G rs2240697 PCDHGB3 Nonsynonymous SNV N389K 0.421 0.422 0.398 161 494 162 0.413 117 102 37 29 26 0.006 22563 chr17 78944738 78944738 A G rs113335931 LOC400627 0 0 0.156 0 0 0 0 46 0 0 3 0 1.101 22564 chr17 79005225 79005225 - TCT rs57754289 BAIAP2-DT 0 0 0.146 0 0 0 0 43 0 0 3 0 22565 chr16 30199713 30199713 C A rs150857828 CORO1A Nonsynonymous SNV P366H 0.019 0.008 0.003 9 22 3 0.023 1 0 0 0 1 Benign 27.4 22566 chr16 67322118 67322118 G C rs17680862 PLEKHG4 Nonsynonymous SNV S1009T 0.003 0.013 0.007 1 4 5 0.003 2 0 1 0 0 4.053 22567 chr5 140755303 140755303 T C PCDHGA6 Synonymous SNV F551F 0 0 0 0 0 0 0 0 0 0 0 0 0.002 22568 chr17 79005292 79005292 G A rs55762738 BAIAP2-DT 0 0 0.146 0 0 0 0 43 0 0 3 0 1.469 22569 chr5 140755540 140755540 C A rs577451422 PCDHGA6 Synonymous SNV R630R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.67 22570 chr16 4412696 4412696 G A rs138573572 CORO7, CORO7-PAM16 Nonsynonymous SNV T355M 0.003 0 0 0 3 0 0 0 0 0 0 0 29.9 22571 chr17 79006850 79006850 T C rs11870986 BAIAP2-DT 0 0 0.619 0 0 0 0 182 0 0 53 0 3.232 22572 chr5 140763029 140763029 A G rs2072315 PCDHGA7 Nonsynonymous SNV E188G 0.419 0.404 0.391 159 492 155 0.408 115 99 32 28 26 5.016 22573 chr17 79007075 79007075 C A rs11150764 BAIAP2-DT 0 0 0.769 0 0 0 0 226 0 0 87 0 7.427 22574 chr16 67322414 67322414 G A rs11556908 PLEKHG4 Synonymous SNV S1078S 0.032 0.044 0.02 15 37 17 0.038 6 1 1 0 0 8.292 22575 chr16 3358540 3358540 C G ZNF75A Nonsynonymous SNV Q38E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.285 22576 chr17 79093270 79093270 - GGGCGT rs376907005 AATK P1228_A1229insTP 0.039 0.055 0.054 10 46 21 0.026 16 3 0 0 0 22577 chr16 67324827 67324827 A G rs8053912 KCTD19 Synonymous SNV D876D 0.082 0.081 0.102 45 96 31 0.115 30 4 1 0 5 6.657 22578 chr17 79094162 79094162 G A rs55856613 AATK Nonsynonymous SNV P1089S 0.016 0.021 0.02 3 19 8 0.008 6 1 0 0 0 0.072 22579 chr5 140772899 140772899 C - rs3214276 PCDHGA8 N175Ifs*16 0.141 0.107 0.065 41 165 41 0.105 19 19 4 1 1 22580 chr5 96139595 96139595 G A rs72773968 ERAP1 Nonsynonymous SNV T12I 0.144 0.148 0.156 55 169 57 0.141 46 13 2 4 3 12.95 22581 chr16 67434917 67434917 C T rs34229857 ZDHHC1 Nonsynonymous SNV R124Q 0.025 0.039 0.02 15 29 15 0.038 6 0 1 0 0 27.8 22582 chr5 140773388 140773388 G T rs2240700 PCDHGA8 Synonymous SNV S336S 0.194 0.174 0.099 72 228 67 0.185 29 32 5 4 5 0.125 22583 chr17 79095144 79095144 G A rs8073904 AATK Synonymous SNV A761A 0.895 0.922 0.891 350 1051 354 0.897 262 472 163 117 157 9.04 22584 chr5 140774288 140774288 T C rs4912749 PCDHGA8 Synonymous SNV D636D 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.029 22585 chr16 67434947 67434947 C T rs139962485 ZDHHC1 Nonsynonymous SNV S114N 0.007 0.013 0 9 8 5 0.023 0 0 0 0 0 12.65 22586 chr17 79095629 79095629 C A rs7503604 AATK Nonsynonymous SNV G600C 0.499 0.49 0.534 183 586 188 0.469 157 150 47 43 40 6.937 22587 chr5 140778256 140778256 G A rs6867460 PCDHGB5 Nonsynonymous SNV G188S 0.193 0.174 0.099 72 227 67 0.185 29 31 5 4 5 8.867 22588 chr5 140783596 140783596 C T rs1363448 PCDHGA9 Synonymous SNV D359D 0.397 0.383 0.367 147 466 147 0.377 108 89 27 25 20 10.8 22589 chr16 56602798 56602798 G A rs11643815 MT4 Nonsynonymous SNV G48D 0.103 0.073 0.082 29 121 28 0.074 24 6 0 1 2 24.6 22590 chr16 67578257 67578257 C T rs61744916 RIPOR1 Nonsynonymous SNV R890C 0.041 0.049 0.037 20 48 19 0.051 11 3 1 0 1 24.1 22591 chr17 79155116 79155116 A G rs906180 PVALEF Synonymous SNV T30T 0 0 0.82 0 0 0 0 241 0 0 96 0 4.239 22592 chr5 140784055 140784055 T C rs3749770 PCDHGA9 Synonymous SNV G512G 0.266 0.26 0.197 108 312 100 0.277 58 48 12 9 10 0.002 22593 chr17 79170576 79170576 C T rs1542961 CEP131 Synonymous SNV A608A 0.378 0.331 0.344 142 444 127 0.364 101 86 24 22 21 19.22 22594 chr5 140784427 140784427 T C rs3749769 PCDHGA9 Synonymous SNV D636D 0.14 0.107 0.068 41 164 41 0.105 20 18 4 2 1 0.003 22595 chr17 79171967 79171967 A G rs2659016 CEP131 Nonsynonymous SNV V473A 0.999 0.997 0.976 388 1173 383 0.995 287 586 191 143 193 3.341 22596 chr5 140788264 140788264 C T rs58047392 PCDHGB6 Synonymous SNV N165N 0.176 0.143 0.099 69 207 55 0.177 29 31 5 4 5 8.78 22597 chr17 79173184 79173184 T C rs2659015 CEP131 Nonsynonymous SNV T397A 0.985 0.982 0.782 385 1156 377 0.987 230 570 185 111 190 0.001 22598 chr5 140789933 140789933 G A rs3749767 PCDHGB6 Nonsynonymous SNV A722T 0.264 0.258 0.19 108 310 99 0.277 56 48 12 8 10 0.003 22599 chr16 3406757 3406757 T - rs142397376 OR2C1 F273Sfs*13 0.049 0.049 0.034 12 58 19 0.031 10 6 0 0 0 22600 chr16 67692844 67692844 C T rs146270351 ACD Nonsynonymous SNV R211Q 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 23.3 22601 chr17 79173224 79173224 T C rs2725419 CEP131 Synonymous SNV T383T 0.986 0.979 0.813 385 1157 376 0.987 239 570 184 115 190 0.052 22602 chr5 140793007 140793007 A G rs4912751 PCDHGA10 Nonsynonymous SNV I89V 0.398 0.383 0.367 147 467 147 0.377 108 90 27 25 20 0.029 22603 chr16 67876824 67876826 CAG - rs377516180 THAP11 Q132del 0.175 0.172 0.167 85 205 66 0.218 49 14 4 2 7 22604 chr5 96245365 96245365 C T rs150892504 ERAP2 Nonsynonymous SNV R706C 0.004 0.016 0.003 4 5 6 0.01 1 0 0 0 0 27.3 22605 chr17 79174221 79174221 T C rs2466773 CEP131 Nonsynonymous SNV T272A 0.986 0.982 0.949 386 1157 377 0.99 279 570 185 133 191 0.217 22606 chr16 67911517 67911517 T C rs8060686 EDC4 Synonymous SNV C249C 0.193 0.182 0.19 90 226 70 0.231 56 17 4 3 8 0.002 22607 chr16 31405563 31405563 C T rs144316206 ITGAD Nonsynonymous SNV A13V 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 25.8 22608 chr5 140797630 140797630 G T rs2015825 PCDHGB7 Synonymous SNV V68V 0.397 0.383 0.367 147 466 147 0.377 108 89 27 25 20 6.782 22609 chr17 79182778 79182778 T C rs62075318 CEP131 Synonymous SNV R74R 0.445 0.466 0.446 177 522 179 0.454 131 123 44 32 39 0.012 22610 chr16 67920049 67920049 G A rs73594554 NRN1L Nonsynonymous SNV E129K 0.099 0.104 0.085 47 116 40 0.121 25 4 2 2 1 27.3 22611 chr17 79202956 79202956 T C rs2048057 TEPSIN Synonymous SNV P450P 0.459 0.474 0.486 190 539 182 0.487 143 123 44 39 46 0.321 22612 chr5 140801104 140801104 T C rs11167744 PCDHGA11 Nonsynonymous SNV F104L 0.14 0.107 0.065 41 164 41 0.105 19 18 4 1 1 0.205 22613 chr17 79205736 79205736 G A rs11655759 TEPSIN Synonymous SNV S204S 0.371 0.346 0.337 122 435 133 0.313 99 82 24 17 12 4.409 22614 chr16 67964203 67964203 T C rs1134760 CTRL Nonsynonymous SNV H173R 0.191 0.182 0.187 91 224 70 0.233 55 17 4 3 10 0.831 22615 chr17 79219501 79219503 ATG - rs10569617 SLC38A10 I1072del 0.469 0.484 0.476 173 551 186 0.444 140 131 45 36 40 22616 chr16 66436625 66436625 G A rs758076739 CDH5 Synonymous SNV P636P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.09 22617 chr5 140801298 140801298 C A rs73792198 PCDHGA11 Synonymous SNV L168L 0.14 0.107 0.065 41 164 41 0.105 19 18 4 1 1 13.14 22618 chr17 79220224 79220224 G C rs2725405 SLC38A10 Nonsynonymous SNV A831G 0.438 0.461 0.469 165 514 177 0.423 138 132 45 37 40 22.9 22619 chr16 31476186 31476186 C G rs55800131 ARMC5 Synonymous SNV L614L 0.08 0.102 0.099 36 94 39 0.092 29 0 3 3 2 3.907 22620 chr5 140803241 140803241 C A rs57195665 PCDHGA11 Nonsynonymous SNV S816Y 0.14 0.107 0.065 41 164 41 0.105 19 18 4 1 1 15.36 22621 chr16 67969930 67969930 A G rs20549 PSMB10 Synonymous SNV L107L 0.191 0.182 0.187 92 224 70 0.236 55 17 4 2 10 4.604 22622 chr16 67381383 67381383 G C rs79636320 LRRC36 Nonsynonymous SNV R5P 0.078 0.112 0.082 21 92 43 0.054 24 2 2 1 1 13.87 22623 chr5 96350710 96350710 G A rs2303138 LNPEP Nonsynonymous SNV A763T 0.049 0.078 0.054 18 58 30 0.046 16 1 3 0 0 24.9 22624 chr17 79278357 79278357 C G rs11871509 LINC00482 0 0 0.33 0 0 0 0 97 0 0 18 0 3.055 22625 chr5 140857798 140857798 T C rs1423148 PCDHGC3 Synonymous SNV F705F 0.393 0.388 0.371 146 461 149 0.374 109 90 28 25 19 0.018 22626 chr16 30976167 30976167 G A rs757732709 SETD1A Synonymous SNV A368A 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 9.879 22627 chr16 3779115 3779115 T C rs112906840 CREBBP Nonsynonymous SNV N1940S 0.011 0 0.01 5 13 0 0.013 3 0 0 0 1 Benign 1.522 22628 chr16 67997920 67997920 T C rs3785100 SLC12A4 Nonsynonymous SNV E4G 0.129 0.109 0.092 55 151 42 0.141 27 6 2 2 4 4.286 22629 chr16 4626215 4626215 C T rs79448011 C16orf96 Synonymous SNV Y578Y 0.035 0.023 0.024 19 41 9 0.049 7 0 0 0 0 6.83 22630 chr17 79278810 79278810 G A rs2048058 LINC00482 0 0 0.105 0 0 0 0 31 0 0 2 0 2.592 22631 chr16 30992128 30992128 C T rs141686467 SETD1A Synonymous SNV S1550S 0.012 0.008 0 6 14 3 0.015 0 0 0 0 0 16.06 22632 chr5 140858245 140858245 C T rs3805695 PCDHGC3 Synonymous SNV A854A 0.193 0.172 0.122 68 227 66 0.174 36 24 8 3 6 6.206 22633 chr17 79279017 79279017 C G rs2056439 LINC00482 0 0 0.347 0 0 0 0 102 0 0 19 0 3.215 22634 chr16 31539934 31539934 G T rs17677 AHSP Synonymous SNV L77L 0.118 0.122 0.167 52 138 47 0.133 49 5 3 6 2 0.262 22635 chr16 68002496 68002507 CCCGCCGCTGTC - rs770789419 SLC12A4 T18_G21del 0.013 0.005 0.017 4 15 2 0.01 5 1 0 0 0 22636 chr5 141014494 141014494 T C rs2530223 HDAC3 Synonymous SNV Q55Q 0.532 0.495 0.541 205 625 190 0.526 159 175 48 45 45 3.003 22637 chr16 3828172 3828172 A G rs130003 CREBBP Synonymous SNV Y613Y 0.041 0.042 0.01 27 48 16 0.069 3 1 0 1 2 Benign 1.759 22638 chr5 96503378 96503378 T C rs12188395 RIOK2 Nonsynonymous SNV N397S 0.122 0.122 0.105 45 143 47 0.115 31 12 3 0 3 0.001 22639 chr5 141019110 141019110 C A rs14251 RELL2 Nonsynonymous SNV L133I 0.48 0.438 0.469 184 563 168 0.472 138 133 39 31 39 10.92 22640 chr17 79354342 79354342 T C rs61745998 LOC100130370 0.366 0.375 0.412 141 430 144 0.362 121 78 24 26 28 2.168 22641 chr16 67700155 67700155 G C rs150335405 ENKD1 Synonymous SNV L33L 0.013 0.018 0.003 8 15 7 0.021 1 0 0 0 0 6.687 22642 chr17 79508400 79508400 T C rs14422 FAAP100 Nonsynonymous SNV T817A 0.896 0.891 0.837 351 1052 342 0.9 246 472 150 110 159 0.554 22643 chr16 68055495 68055495 G C rs13816 DDX28 Synonymous SNV P537P 0.145 0.125 0.136 71 170 48 0.182 40 12 2 2 5 0.011 22644 chr5 141019569 141019569 G C rs17855844 RELL2 Nonsynonymous SNV G196R 0.232 0.174 0.17 85 272 67 0.218 50 34 6 3 11 23 22645 chr17 79511135 79511135 A G rs8077430 FAAP100 Synonymous SNV T774T 0.744 0.682 0.704 297 874 262 0.762 207 331 91 78 119 8.108 22646 chr16 57397449 57397449 C T rs2229161 CCL22 Synonymous SNV A77A 0.041 0.042 0.014 4 48 16 0.01 4 1 0 0 0 14.27 22647 chr17 79514129 79514129 G A rs11552304 FAAP100 Nonsynonymous SNV P660L 0.626 0.563 0.534 257 735 216 0.659 157 235 61 47 92 4.215 22648 chr16 57449687 57449687 G A rs34379253 CCL17 Nonsynonymous SNV V67M 0.031 0.036 0.041 7 36 14 0.018 12 0 0 0 0 8.322 22649 chr16 68088485 68088485 A G rs11555011 DUS2 Synonymous SNV S91S 0.134 0.122 0.109 61 157 47 0.156 32 9 2 2 4 8.167 22650 chr5 141019830 141019830 C G rs11742646 RELL2 Nonsynonymous SNV Q283E 0.233 0.174 0.17 85 274 67 0.218 50 34 6 3 11 18.69 22651 chr16 68293320 68293320 T C rs3743739 PLA2G15 Synonymous SNV G333G 0.193 0.18 0.207 90 226 69 0.231 61 16 3 2 12 2.65 22652 chr17 79637349 79637349 T C rs10438817 CCDC137 Synonymous SNV S121S 0.99 0.992 0.986 383 1162 381 0.982 290 575 189 143 188 0.059 22653 chr5 96513471 96513471 G C rs2544773 RIOK2 Nonsynonymous SNV S96C 0.331 0.362 0.316 122 389 139 0.313 93 64 30 12 21 28.7 22654 chr16 57474687 57474687 G C rs11557674 CIAPIN1 Nonsynonymous SNV Q52E 0.051 0.055 0.048 17 60 21 0.044 14 2 0 0 0 10.8 22655 chr5 141029072 141029072 G A rs11739451 FCHSD1 Synonymous SNV L89L 0.098 0.081 0.071 39 115 31 0.1 21 6 1 1 3 9.439 22656 chr17 79818260 79818260 G T rs11558886 P4HB Synonymous SNV R30R 0.167 0.159 0.146 77 196 61 0.197 43 14 5 4 7 13.18 22657 chr16 68330397 68330397 A G rs79087422 SLC7A6 Nonsynonymous SNV K417R 0.009 0.016 0.007 13 11 6 0.033 2 0 0 0 0 Likely benign 12.16 22658 chr17 79872241 79872241 A G rs1879569 SIRT7 Synonymous SNV L249L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.289 22659 chr5 141059158 141059158 C G rs1031904 ARAP3 Nonsynonymous SNV D218H 0.129 0.117 0.085 45 151 45 0.115 25 6 3 1 2 20.7 22660 chr17 79891147 79891147 T C rs61747618 PYCR1 Synonymous SNV S270S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.369 22661 chr16 68344363 68344363 A C rs8063446 SLC7A6OS Nonsynonymous SNV S116A 0.098 0.112 0.085 52 115 43 0.133 25 4 1 1 4 0.002 22662 chr17 79899272 79899272 A G rs4796856 MYADML2 Nonsynonymous SNV S116P 0.57 0.576 0.599 214 669 221 0.549 176 186 62 51 60 9.656 22663 chr16 31089465 31089465 C T rs141631516 ZNF646 Nonsynonymous SNV T607I 0.02 0.013 0.007 7 24 5 0.018 2 0 0 0 0 14.08 22664 chr16 57091999 57091999 G A rs117587884 NLRC5 Nonsynonymous SNV D1228N 0.009 0.021 0.01 13 11 8 0.033 3 0 0 0 0 24.7 22665 chr5 141059649 141059649 A G rs417503 ARAP3 Synonymous SNV P135P 0.655 0.63 0.684 254 769 242 0.651 201 250 77 68 77 0.09 22666 chr5 101631790 101631790 T G rs10479190 SLCO4C1 Synonymous SNV P59P 0.233 0.221 0.252 94 273 85 0.241 74 33 11 13 10 3.878 22667 chr5 141309824 141309824 G A rs351260 DELE1 Nonsynonymous SNV A247T 0.29 0.271 0.337 120 340 104 0.308 99 60 14 13 19 23.5 22668 chr17 79899495 79899495 G A rs4796854 MYADML2 Synonymous SNV A41A 0.548 0.573 0.585 209 643 220 0.536 172 174 61 47 56 5.366 22669 chr5 101724448 101724448 G C rs10055840 SLCO6A1 Nonsynonymous SNV T401R 0.249 0.229 0.262 103 292 88 0.264 77 36 10 14 14 0.001 22670 chr17 79954544 79954544 T A rs8074498 ASPSCR1 Nonsynonymous SNV L175Q 0.543 0.565 0.551 216 637 217 0.554 162 161 60 43 59 23.6 22671 chr16 684579 684579 C T rs34560623 METTL26 Nonsynonymous SNV A169T 0.043 0.065 0.071 16 50 25 0.041 21 3 1 0 0 0.053 22672 chr16 68387341 68387341 C T rs79543001 PRMT7 Nonsynonymous SNV R509C 0.087 0.096 0.082 46 102 37 0.118 24 2 1 1 4 6.654 22673 chr5 141325249 141325249 T C rs105633 PCDH12 Synonymous SNV P1084P 0.978 0.964 0.983 376 1148 370 0.964 289 561 178 142 181 0.012 22674 chr17 79974731 79974731 T C rs13087 ASPSCR1 Synonymous SNV D435D 0.572 0.602 0.578 219 671 231 0.562 170 187 70 55 64 0.011 22675 chr5 141335498 141335498 C T rs164515 PCDH12 Nonsynonymous SNV S640N 0.237 0.234 0.299 103 278 90 0.264 88 43 7 11 16 0.005 22676 chr16 68598007 68598007 A G rs1177648 ZFP90 Synonymous SNV Q439Q 0.603 0.609 0.602 219 708 234 0.562 177 212 72 55 64 0.002 22677 chr17 7999957 7999957 G A rs3809881 ALOXE3 Synonymous SNV S707S 0.392 0.38 0.405 152 460 146 0.39 119 87 27 26 30 Benign 11.79 22678 chr16 68387457 68387457 C T rs61746794 PRMT7 Synonymous SNV D496D 0.103 0.115 0.095 55 121 44 0.141 28 5 1 1 4 17.48 22679 chr17 80006957 80006957 A C rs12948507 RFNG Nonsynonymous SNV H288Q 0.638 0.617 0.619 242 749 237 0.621 182 232 73 61 77 0.006 22680 chr5 141337225 141337225 A G rs164077 PCDH12 Synonymous SNV A64A 0.765 0.758 0.772 308 898 291 0.79 227 349 109 86 124 1.468 22681 chr17 80008392 80008392 G T rs9916764 RFNG Synonymous SNV A153A 0.597 0.581 0.595 227 701 223 0.582 175 202 65 56 67 1.298 22682 chr5 107197502 107197502 G A rs34990078 FBXL17 Synonymous SNV T675T 0.275 0.263 0.255 123 323 101 0.315 75 50 19 10 21 14.86 22683 chr5 142421415 142421415 T G rs2270068 ARHGAP26 Synonymous SNV G415G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.321 22684 chr16 48122454 48122454 A C rs772369279 ABCC12 0.004 0 0 0 5 0 0 0 0 0 0 0 23.3 22685 chr16 3293927 3293927 G A rs777547606 MEFV Stop gain Q423X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.01 22686 chr17 80038609 80038609 G A FASN Nonsynonymous SNV S2262F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 22687 chr16 69782855 69782855 C T rs3811348 NOB1 Nonsynonymous SNV R231Q 0.508 0.51 0.503 195 596 196 0.5 148 150 56 39 52 14.57 22688 chr16 57761281 57761281 C A rs140762606 DRC7 Nonsynonymous SNV T654N 0.016 0.021 0.014 7 19 8 0.018 4 1 0 0 0 23.3 22689 chr5 142593652 142593652 C T rs258819 ARHGAP26 Synonymous SNV N657N 0.983 0.966 0.98 384 1154 371 0.985 288 572 185 143 191 6.941 22690 chr17 80045086 80045086 G C rs4485435 FASN Synonymous SNV A1089A 0.231 0.169 0.282 71 271 65 0.182 83 30 5 11 5 8.356 22691 chr17 80136418 80136418 C T rs7209474 CCDC57 Nonsynonymous SNV V480M 0.513 0.49 0.524 174 602 188 0.446 154 149 47 41 35 15.6 22692 chr5 143200053 143200053 C T rs161557 HMHB1 Nonsynonymous SNV H16Y 0.215 0.211 0.241 94 252 81 0.241 71 32 10 11 10 0.816 22693 chr16 57702274 57702274 G T rs62039891 ADGRG3 Nonsynonymous SNV R5S 0.099 0.112 0.109 25 116 43 0.064 32 7 3 2 1 0.897 22694 chr17 80151881 80151881 G A rs4789722 CCDC57 Synonymous SNV D251D 0.506 0.474 0.517 173 594 182 0.444 152 151 46 40 35 3.155 22695 chr5 143545052 143545052 G A rs35429531 YIPF5 Nonsynonymous SNV A22V 0.016 0.013 0.007 3 19 5 0.008 2 0 0 0 0 14.82 22696 chr16 68943242 68943242 C T rs72787286 TANGO6 Synonymous SNV V643V 0.014 0.023 0.02 9 17 9 0.023 6 0 0 0 0 18.37 22697 chr5 109110537 109110537 T A rs6894260 MAN2A1 Synonymous SNV R415R 0.323 0.318 0.293 133 379 122 0.341 86 60 24 11 21 10.9 22698 chr17 80159566 80159566 T C rs8072670 CCDC57 Synonymous SNV E85E 0.745 0.714 0.759 278 875 274 0.713 223 322 94 84 96 0.079 22699 chr16 69973825 69973825 G A rs3748389 WWP2 Synonymous SNV E426E 0.41 0.427 0.398 151 481 164 0.387 117 102 37 28 32 11.85 22700 chr17 80195582 80195582 T C rs9303026 SLC16A3 Synonymous SNV G312G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.006 22701 chr16 57707249 57707249 C T rs73552781 ADGRG3 Synonymous SNV T25T 0.041 0.052 0.024 15 48 20 0.038 7 2 1 0 1 9.243 22702 chr5 145246085 145246085 T G rs2569006 GRXCR2 Nonsynonymous SNV L181F 0.59 0.617 0.524 219 693 237 0.562 154 202 72 46 60 0.021 22703 chr16 4492376 4492376 C T rs376405085 DNAJA3 Synonymous SNV P93P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.12 22704 chr16 69377499 69377499 T C rs11649369 TMED6 Synonymous SNV R178R 0.112 0.099 0.092 52 131 38 0.133 27 9 2 3 3 6.467 22705 chr17 80280865 80280865 G A rs11077986 SECTM1 Synonymous SNV P142P 0.519 0.529 0.517 192 609 203 0.492 152 144 58 35 44 4.171 22706 chr16 57758727 57758727 T C rs115241876 DRC7 Nonsynonymous SNV S515P 0.015 0.018 0.017 7 18 7 0.018 5 0 0 0 0 22.7 22707 chr5 109756436 109756436 G A rs61743146 TMEM232 Stop gain R607X 0.003 0.008 0.007 3 3 3 0.008 2 0 0 0 0 35 22708 chr16 69745145 69745145 G A rs1800566 NQO1 Nonsynonymous SNV P115S 0.185 0.172 0.259 67 217 66 0.172 76 38 11 12 7 drug response 32 22709 chr17 80332251 80332251 T C rs11654140 UTS2R Synonymous SNV T17T 0.291 0.286 0.279 91 342 110 0.233 82 39 17 8 8 0.024 22710 chr5 145393364 145393364 C T rs758037 SH3RF2 Nonsynonymous SNV R267C 0.738 0.737 0.735 282 866 283 0.723 216 322 101 78 100 18.97 22711 chr5 109960989 109960989 A G rs61730920 TMEM232 Synonymous SNV Y249Y 0.089 0.104 0.075 35 105 40 0.09 22 5 3 2 0 0.029 22712 chr16 70546234 70546234 G A rs3762171 COG4 Synonymous SNV L212L 0.497 0.516 0.527 184 584 198 0.472 155 152 47 44 38 Benign 11.74 22713 chr17 80352303 80352303 G A rs62079523 OGFOD3 Nonsynonymous SNV P314S 0.337 0.328 0.306 111 396 126 0.285 90 55 21 10 9 21.7 22714 chr5 109973902 109973902 T G rs1422495 TMEM232 Synonymous SNV A166A 0.089 0.099 0.068 35 104 38 0.09 20 5 3 2 0 0.065 22715 chr16 69776377 69776377 T A rs1075935 NOB1 Nonsynonymous SNV Y366F 0.049 0.068 0.061 22 58 26 0.056 18 1 0 0 0 23.3 22716 chr5 145439647 145439647 T C rs2962525 SH3RF2 Nonsynonymous SNV W592R 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.002 22717 chr17 8046772 8046772 C G rs2585405 PER1 Nonsynonymous SNV A962P 0.84 0.828 0.789 308 986 318 0.79 232 409 130 92 122 5.289 22718 chr16 57796129 57796129 G A rs117434000 KIFC3 Synonymous SNV S455S 0.016 0.018 0.007 7 19 7 0.018 2 0 0 0 0 13.7 22719 chr5 145442133 145442133 G A rs11435 SH3RF2 Nonsynonymous SNV V687I 0.124 0.117 0.146 47 146 45 0.121 43 8 4 2 2 0.004 22720 chr17 8048169 8048169 T C rs2253820 PER1 Synonymous SNV T787T 0.738 0.745 0.701 273 866 286 0.7 206 325 107 69 97 1.632 22721 chr16 70569215 70569215 A T rs33910368 SF3B3 Synonymous SNV P239P 0.482 0.5 0.527 180 566 192 0.462 155 148 46 44 35 0.497 22722 chr5 111504479 111504479 C T rs7703522 EPB41L4A Nonsynonymous SNV R630H 0.635 0.625 0.599 250 745 240 0.641 176 225 73 56 82 23.4 22723 chr17 8048283 8048283 G A rs2735611 PER1 Synonymous SNV G749G 0.738 0.745 0.69 273 866 286 0.7 203 325 107 69 97 12.16 22724 chr16 70602221 70602221 C T rs12909 SF3B3 Synonymous SNV I996I 0.497 0.513 0.524 184 583 197 0.472 154 152 47 43 38 18.72 22725 chr16 57965676 57965676 C T rs1052029 CNGB1 Synonymous SNV P487P 0.01 0.008 0.01 2 12 3 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.27 22726 chr5 145442203 145442203 G C rs1056149 SH3RF2 Nonsynonymous SNV G710A 0.733 0.729 0.755 275 860 280 0.705 222 316 99 83 93 7.374 22727 chr17 80674643 80674643 C G rs2250000 FN3KRP Synonymous SNV L4L 1 1 0.935 389 1174 384 0.997 275 587 192 137 194 11.14 22728 chr16 70690989 70690989 G C rs8046424 IL34 Nonsynonymous SNV E122Q 0.532 0.497 0.51 197 625 191 0.505 150 166 47 36 52 3.581 22729 chr5 111519740 111519740 T C rs1560058 EPB41L4A Nonsynonymous SNV N532S 0.655 0.641 0.643 246 769 246 0.631 189 248 75 65 76 3.839 22730 chr17 80696410 80696410 A C rs2253149 FN3K Synonymous SNV R63R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.057 22731 chr17 80708601 80708601 C G rs1056534 FN3K Synonymous SNV S300S 0.591 0.633 0.602 218 694 243 0.559 177 205 78 59 60 8.96 22732 chr5 145477855 145477855 T C rs6877277 PLAC8L1 Synonymous SNV R40R 0.188 0.19 0.177 76 221 73 0.195 52 25 6 7 10 7.045 22733 chr16 71264561 71264561 A G rs3743953 HYDIN, HYDIN Synonymous SNV G10G 0.119 0.094 0.068 52 140 36 0.133 20 6 1 2 3 Benign 6.114 22734 chr17 80710097 80710097 G T rs11550062 TBCD Nonsynonymous SNV G10C 0.112 0.133 0.156 27 132 51 0.069 46 18 7 3 6 23.7 22735 chr5 111530284 111530284 A G rs7719346 EPB41L4A Nonsynonymous SNV Y495H 0.68 0.654 0.694 261 798 251 0.669 204 267 78 72 85 16.51 22736 chr5 145483844 145483844 A T rs12187913 PLAC8L1 Nonsynonymous SNV C11S 0.19 0.195 0.17 80 223 75 0.205 50 23 6 7 10 0.001 22737 chr16 71318577 71318577 T C rs3803704 CMTR2 Nonsynonymous SNV N416S 0.265 0.237 0.228 87 311 91 0.223 67 41 8 10 6 0.067 22738 chr17 8076778 8076778 C T rs9894790 SNORD118 0 0 0.595 0 0 0 0 175 0 0 52 0 6.214 22739 chr16 58035429 58035429 C A rs3743559 USB1 Synonymous SNV S14S 0.121 0.117 0.075 42 142 45 0.108 22 12 1 1 1 Benign 22 22740 chr17 8076802 8076802 T A rs9901637 SNORD118 0 0 0.575 0 0 0 0 169 0 0 46 0 8.136 22741 chr5 111545670 111545670 C G rs890757 EPB41L4A Nonsynonymous SNV S366T 0.651 0.628 0.667 242 764 241 0.621 196 247 71 66 74 11.09 22742 chr16 58054099 58054099 C G rs16959641 USB1 Nonsynonymous SNV Q232E 0.124 0.12 0.085 42 146 46 0.108 25 12 1 1 1 Benign 8.614 22743 chr17 8076855 8076855 T C rs146092673 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 3.409 22744 chr5 145499996 145499996 C T rs10988 LARS1 Nonsynonymous SNV R1042K 0.19 0.195 0.17 80 223 75 0.205 50 23 6 7 10 Benign 23 22745 chr16 4747407 4747407 G A rs146041043 ANKS3 Synonymous SNV G434G 0.009 0.029 0.003 3 11 11 0.008 1 0 0 0 0 2.45 22746 chr17 80863857 80863857 T C rs2292971 TBCD Nonsynonymous SNV M617T 0.521 0.542 0.483 189 612 208 0.485 142 163 59 34 42 0.002 22747 chr16 334899 334899 G A rs141542731 PDIA2 Nonsynonymous SNV A188T 0.007 0.016 0.014 2 8 6 0.005 4 0 0 0 0 11.72 22748 chr16 58552420 58552420 T C rs143244239 SETD6 Synonymous SNV T363T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.706 22749 chr5 145508340 145508340 A G rs2895647 LARS1 Synonymous SNV T879T 0.188 0.195 0.17 80 221 75 0.205 50 23 6 7 10 Benign 7.063 22750 chr17 80895933 80895933 A G rs3785522 TBCD Nonsynonymous SNV E1097G 0.9 0.872 0.884 346 1057 335 0.887 260 479 149 117 152 1.605 22751 chr5 145508636 145508636 T C rs61732383 LARS1 Nonsynonymous SNV N846D 0.189 0.195 0.17 80 222 75 0.205 50 23 6 7 10 Benign 12.41 22752 chr17 8092694 8092694 T G rs8531 BORCS6 Synonymous SNV P255P 0.738 0.76 0.707 271 866 292 0.695 208 322 110 75 97 3.539 22753 chr16 48164777 48164777 T C rs12149826 ABCC12 Synonymous SNV V386V 0.284 0.292 0.255 105 334 112 0.269 75 48 17 10 15 0.706 22754 chr17 80992932 80992932 A C rs16940609 B3GNTL1 Synonymous SNV S107S 0.213 0.214 0.197 79 250 82 0.203 58 22 10 3 8 1.811 22755 chr5 145508637 145508637 A C rs61732382 LARS1 Synonymous SNV V845V 0.189 0.195 0.17 80 222 75 0.205 50 23 6 7 10 Benign 2.277 22756 chr17 81006629 81006629 C T rs7406119 B3GNTL1 Synonymous SNV P31P 0.198 0.19 0.197 73 232 73 0.187 58 21 9 4 8 12.25 22757 chr5 145523105 145523105 G A rs11540217 LARS1 Synonymous SNV L537L 0.191 0.195 0.17 81 224 75 0.208 50 23 6 7 10 Benign 7.631 22758 chr17 81042978 81042978 C T rs62074705 METRNL Nonsynonymous SNV T112M 0.07 0.07 0.078 13 82 27 0.033 23 5 0 2 0 20.5 22759 chr5 145539996 145539996 T G rs11540214 LARS1 Synonymous SNV S170S 0.185 0.195 0.163 78 217 75 0.2 48 23 6 7 10 Benign 12.51 22760 chr17 81043039 81043039 A G rs9908756 METRNL Synonymous SNV P132P 0.618 0.591 0.633 223 725 227 0.572 186 220 67 58 64 0.01 22761 chr5 145543972 145543972 G A rs3763373 LARS1 Synonymous SNV G119G 0.189 0.195 0.17 80 222 75 0.205 50 23 6 7 10 Benign 6.635 22762 chr17 8108331 8108331 A G rs1059476 AURKB Nonsynonymous SNV M130T 0.835 0.839 0.789 306 980 322 0.785 232 403 135 92 121 0.015 22763 chr5 145890028 145890028 A G rs4705103 TCERG1 Synonymous SNV S1019S 0.954 0.948 0.959 363 1120 364 0.931 282 534 172 135 168 0.157 22764 chr16 615048 615048 G A rs113068385 PRR35 Nonsynonymous SNV R486Q 0.022 0.01 0.02 9 26 4 0.023 6 0 0 0 1 0.017 22765 chr5 146258290 146258290 - GCTGCTGCT rs142461655 PPP2R2B S19_C20insSSS 0.117 0.12 0.01 54 137 46 0.138 3 12 1 1 2 22766 chr17 8108339 8108339 G A rs2241909 AURKB Synonymous SNV S127S 0.609 0.576 0.605 223 715 221 0.572 178 208 65 52 60 11.55 22767 chr5 146619206 146619206 G C rs4705132 STK32A Synonymous SNV A3A 0.532 0.557 0.558 198 624 214 0.508 164 176 61 43 56 12.88 22768 chr16 71610276 71610276 G A rs74344827 TAT Nonsynonymous SNV P15S 0.188 0.195 0.153 80 221 75 0.205 45 25 8 4 12 Benign 0.015 22769 chr17 8132763 8132763 T C rs3826543 CTC1 Nonsynonymous SNV I1005V 0.729 0.745 0.721 274 856 286 0.703 212 312 110 78 97 Benign 0.001 22770 chr5 146780273 146780273 G A rs10515587 DPYSL3 Synonymous SNV V478V 0.125 0.117 0.15 42 147 45 0.108 44 12 1 3 1 14.83 22771 chr16 49670390 49670390 A G rs3803667 ZNF423 Synonymous SNV C774C 0.134 0.122 0.197 57 157 47 0.146 58 12 4 5 3 Benign 0.3 22772 chr16 71483497 71483497 C G rs72795864 ZNF23 Nonsynonymous SNV G86A 0.077 0.078 0.054 22 90 30 0.056 16 4 2 1 1 6.314 22773 chr16 61687701 61687701 C T rs16963768 CDH8 Synonymous SNV T737T 0.084 0.112 0.088 44 99 43 0.113 26 9 2 0 2 11.13 22774 chr16 71660404 71660404 G A rs61753635 MARVELD3 Nonsynonymous SNV R91Q 0.325 0.346 0.337 134 381 133 0.344 99 63 20 24 27 2.278 22775 chr5 147286054 147286054 G A rs2250145 C5orf46 Nonsynonymous SNV S4L 0.622 0.563 0.527 245 730 216 0.628 155 223 60 40 75 25.1 22776 chr16 624114 624114 A G rs2071979 PIGQ Nonsynonymous SNV T14A 0.312 0.279 0.337 133 366 107 0.341 99 65 11 16 27 0.01 22777 chr17 8135061 8135061 T C rs3027238 CTC1 Nonsynonymous SNV I820V 0.927 0.956 0.901 363 1088 367 0.931 265 503 175 119 169 Benign 0.001 22778 chr5 147475386 147475386 A G rs6892205 SPINK5 Nonsynonymous SNV Q267R 0.53 0.552 0.374 214 622 212 0.549 110 169 63 35 64 Benign 0.001 22779 chr17 8157310 8157310 C T rs9891699 PFAS Nonsynonymous SNV P19S 0.747 0.763 0.735 266 877 293 0.682 216 320 112 79 89 0.026 22780 chr16 624713 624713 C T rs4984669 PIGQ Synonymous SNV C213C 0.309 0.276 0.327 133 363 106 0.341 96 65 11 16 27 0.324 22781 chr16 71683718 71683718 A G rs61733127 PHLPP2 Nonsynonymous SNV L949S 0.161 0.188 0.177 76 189 72 0.195 52 19 8 4 11 26.3 22782 chr16 630902 630902 C G rs1045274 PIGQ Synonymous SNV L487L 0.133 0.128 0.102 60 156 49 0.154 30 13 1 1 9 10.86 22783 chr17 8161149 8161149 C T rs4791641 PFAS Nonsynonymous SNV P367L 0.384 0.393 0.425 135 451 151 0.346 125 88 36 24 23 19.94 22784 chr5 147477551 147477551 C T rs34482796 SPINK5 Nonsynonymous SNV A335V 0.535 0.56 0.527 214 628 215 0.549 155 168 63 41 63 Benign 23.1 22785 chr16 632283 632283 G A rs7187227 PIGQ Nonsynonymous SNV G523S 0.135 0.13 0.116 60 158 50 0.154 34 13 1 1 9 12.4 22786 chr17 8167600 8167600 T C rs11078738 PFAS Nonsynonymous SNV L621P 0.65 0.701 0.656 235 763 269 0.603 193 249 95 66 71 0.651 22787 chr5 147480027 147480027 G A rs2303063 SPINK5 Nonsynonymous SNV S368N 0.536 0.56 0.52 214 629 215 0.549 153 168 63 40 62 Benign 7.209 22788 chr16 633125 633125 T C rs1045277 PIGQ Nonsynonymous SNV C592R 0.319 0.289 0.34 130 374 111 0.333 100 66 12 17 26 0.007 22789 chr17 8168224 8168224 T C rs9902252 PFAS Synonymous SNV S687S 0.648 0.701 0.663 235 761 269 0.603 195 248 95 66 71 0.553 22790 chr17 8192133 8192133 G C rs200305092 RANGRF Synonymous SNV L9L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.812 22791 chr5 147480112 147480112 T C rs2303065 SPINK5 Synonymous SNV H396H 0.537 0.56 0.52 215 631 215 0.551 153 170 63 40 62 Benign 1.438 22792 chr16 633353 633353 T C rs710924 PIGQ Nonsynonymous SNV C668R 0.318 0.284 0.333 131 373 109 0.336 98 67 12 17 27 0.08 22793 chr17 8224276 8224276 T C rs3744647 ARHGEF15 Nonsynonymous SNV S831P 0.708 0.745 0.667 279 831 286 0.715 196 292 110 68 103 0.006 22794 chr16 3594316 3594316 C T rs74760019 NLRC3 Nonsynonymous SNV A929T 0.021 0.021 0.02 5 25 8 0.013 6 1 0 0 0 20.1 22795 chr16 71885433 71885433 C A rs61747556 ATXN1L Nonsynonymous SNV P597H 0.013 0.003 0 6 15 1 0.015 0 0 0 0 0 23.2 22796 chr5 147480955 147480955 A G rs2303067 SPINK5 Nonsynonymous SNV K420E 0.532 0.547 0.514 213 624 210 0.546 151 170 63 39 62 Benign 7.826 22797 chr5 112823998 112823998 C T rs348943 MCC Synonymous SNV E38E 0.56 0.557 0.524 195 658 214 0.5 154 173 60 37 46 14.91 22798 chr16 633354 633354 G A rs710925 PIGQ Nonsynonymous SNV C668Y 0.316 0.284 0.333 130 371 109 0.333 98 66 12 17 26 0.005 22799 chr17 8243469 8243469 T C rs12943505 ODF4 Nonsynonymous SNV W34R 0.367 0.435 0.337 141 431 167 0.362 99 74 38 16 26 0.164 22800 chr16 3779045 3779045 A G rs200998860 CREBBP Synonymous SNV N1963N 0.013 0.008 0.007 8 15 3 0.021 2 0 0 0 0 Benign/Likely benign 0.001 22801 chr5 112824039 112824039 T C rs348942 MCC Nonsynonymous SNV S25G 0.665 0.656 0.66 225 781 252 0.577 194 305 97 78 79 0.052 22802 chr16 71950450 71950450 C T rs1049794 IST1 Synonymous SNV H58H 0.196 0.151 0.16 82 230 58 0.21 47 28 1 5 8 13.7 22803 chr5 147481430 147481430 A G rs6896303 SPINK5 Synonymous SNV G463G 0.537 0.56 0.52 215 630 215 0.551 153 169 63 40 62 Benign 9.091 22804 chr16 603471 603471 A G rs11248937 CAPN15 Synonymous SNV P1072P 0.412 0.391 0.344 162 484 150 0.415 101 86 29 20 32 0.053 22805 chr17 8243598 8243598 C T rs73250854 ODF4 Nonsynonymous SNV R77C 0.147 0.164 0.156 58 173 63 0.149 46 12 4 4 2 22.3 22806 chr5 147486677 147486677 C A rs880687 SPINK5 Synonymous SNV G519G 0.536 0.557 0.524 214 629 214 0.549 154 168 63 41 62 Benign 10.82 22807 chr5 112824048 112824048 - GCC rs35336557 MCC G21_S22insG 0.516 0.487 0.446 176 606 187 0.451 131 148 46 28 35 22808 chr16 72042682 72042682 A C rs3213422 DHODH Nonsynonymous SNV K7Q 0.451 0.484 0.374 185 529 186 0.474 110 120 45 28 42 Benign 12.75 22809 chr5 112868693 112868693 C A rs6594732 YTHDC2 Synonymous SNV R103R 0.202 0.195 0.235 62 237 75 0.159 69 24 5 8 5 21.1 22810 chr5 147488367 147488367 C T rs2303071 SPINK5 Synonymous SNV V553V 0.538 0.56 0.524 216 632 215 0.554 154 171 63 42 64 Benign 17.5 22811 chr17 8243661 8243661 G A rs12601097 ODF4 Nonsynonymous SNV V98M 0.71 0.763 0.673 280 833 293 0.718 198 297 113 71 103 4.002 22812 chr5 112889374 112889374 G A rs10071816 YTHDC2 Nonsynonymous SNV S352N 0.181 0.172 0.221 54 213 66 0.138 65 17 4 7 4 0.001 22813 chr5 147498019 147498019 G A rs3777134 SPINK5 Nonsynonymous SNV R711Q 0.601 0.62 0.571 234 705 238 0.6 168 216 76 44 72 Benign 22.7 22814 chr16 52478206 52478206 C T rs3743796 TOX3 Synonymous SNV R323R 0.092 0.073 0.058 35 108 28 0.09 17 6 2 0 3 17.98 22815 chr16 4033427 4033427 G C rs2230740 ADCY9 Synonymous SNV S775S 0.004 0.013 0.007 1 5 5 0.003 2 0 0 0 0 0.429 22816 chr16 71807232 71807232 C A rs113235758 AP1G1 Synonymous SNV G120G 0.043 0.07 0.065 32 50 27 0.082 19 2 0 2 3 20.2 22817 chr17 8243785 8243785 A G rs12936935 ODF4 Nonsynonymous SNV Y139C 0.71 0.763 0.673 280 833 293 0.718 198 297 113 71 103 0.003 22818 chr16 52478215 52478215 C T rs3743797 TOX3 Synonymous SNV A320A 0.092 0.073 0.058 35 108 28 0.09 17 6 2 0 3 17.43 22819 chr5 112899702 112899702 A G rs6886628 YTHDC2 Synonymous SNV T563T 0.181 0.169 0.221 57 213 65 0.146 65 17 4 7 4 0.002 22820 chr5 147499616 147499616 C T rs17704908 SPINK5 Synonymous SNV L786L 0.6 0.62 0.571 232 704 238 0.595 168 217 76 44 72 Benign 13.11 22821 chr16 72135014 72135014 T C rs1050363 DHX38 Synonymous SNV A436A 0.542 0.513 0.588 221 636 197 0.567 173 174 46 55 62 10.61 22822 chr16 65038674 65038674 G A rs35182 CDH11 Synonymous SNV P33P 0.145 0.146 0.173 48 170 56 0.123 51 12 6 5 1 10.05 22823 chr17 8262907 8262907 G T rs182766703 LOC100128288 0 0 0.01 0 0 0 0 3 0 0 0 0 0.143 22824 chr5 112917278 112917278 T G rs11748794 YTHDC2 Synonymous SNV S873S 0.161 0.148 0.211 52 189 57 0.133 62 13 4 7 4 8.88 22825 chr16 71884636 71884636 G A rs866322022 ATXN1L Synonymous SNV P331P 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 3.467 22826 chr5 147499670 147499670 C T rs33920397 SPINK5 Synonymous SNV G804G 0.598 0.615 0.571 233 702 236 0.597 168 216 76 44 72 Benign 15.53 22827 chr16 3778583 3778583 A C rs746868061 CREBBP Synonymous SNV P2117P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.016 22828 chr16 72137561 72137561 G A rs2240243 DHX38 Synonymous SNV T566T 0.382 0.339 0.398 145 448 130 0.372 117 85 15 22 24 13.24 22829 chr17 8296440 8296440 G A rs12601265 RNF222 Nonsynonymous SNV P114S 0.717 0.773 0.704 297 842 297 0.762 207 310 117 79 114 0.002 22830 chr5 112920108 112920108 C G rs55822801 YTHDC2 Nonsynonymous SNV L953V 0.059 0.063 0.082 18 69 24 0.046 24 0 2 0 1 10.35 22831 chr16 3823776 3823776 C T rs763702839 CREBBP Synonymous SNV P775P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.3 22832 chr5 147505116 147505116 G A rs3764930 SPINK5 Synonymous SNV A923A 0.601 0.62 0.568 234 705 238 0.6 167 216 76 43 72 Benign 14.09 22833 chr16 66527236 66527236 G A rs117499742 BEAN1 Synonymous SNV T173T 0.032 0.055 0.027 15 38 21 0.038 8 0 0 0 0 9.292 22834 chr16 72142248 72142248 C T rs145450094 DHX38 Synonymous SNV N1029N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 14.87 22835 chr5 147510866 147510866 T C rs2400478 SPINK5 Synonymous SNV G1003G 0.602 0.62 0.571 235 707 238 0.603 168 218 76 44 73 Benign 1.94 22836 chr17 8416901 8416901 C T rs11374 MYH10 Synonymous SNV T869T 0.37 0.315 0.31 149 434 121 0.382 91 83 17 13 24 15.9 22837 chr5 147593497 147593497 C A rs12186491 SPINK6 Nonsynonymous SNV P36T 0.916 0.922 0.942 366 1075 354 0.938 277 489 164 130 173 23.7 22838 chr17 8424270 8424270 G A rs8067456 MYH10 Synonymous SNV N702N 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 9.897 22839 chr17 8700982 8700982 C T rs2242373 MFSD6L Nonsynonymous SNV R486H 0.162 0.161 0.16 64 190 62 0.164 47 11 6 3 2 26.3 22840 chr5 113698544 113698544 G C rs40179 KCNN2 Synonymous SNV L236L 0.442 0.419 0.425 150 519 161 0.385 125 103 37 30 28 1.967 22841 chr5 148206440 148206440 G A rs1042713 ADRB2 Nonsynonymous SNV G16R 0.385 0.38 0.361 150 452 146 0.385 106 87 27 16 25 drug response 8.198 22842 chr16 72162966 72162966 G T rs34832584 PMFBP1 Nonsynonymous SNV T650K 0.17 0.172 0.187 87 200 66 0.223 55 19 5 5 12 7.071 22843 chr5 113698631 113698631 - GCC rs151038013 KCNN2 A270_V271insA 0.436 0.414 0.418 144 512 159 0.369 123 102 37 29 27 22844 chr16 67229793 67229793 - CAGCAG E2F4 S319_N320insSS 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 22845 chr17 8701423 8701423 A G rs34184531 MFSD6L Nonsynonymous SNV I339T 0.215 0.234 0.265 89 252 90 0.228 78 31 7 8 11 0.049 22846 chr16 67470880 67470880 G A rs201045312 HSD11B2 Nonsynonymous SNV G398S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.8 22847 chr5 148206473 148206473 G C rs1042714 ADRB2 Nonsynonymous SNV E27Q 0.67 0.654 0.704 248 786 251 0.636 207 264 81 72 76 1.122 22848 chr16 72184566 72184566 C T rs35370634 PMFBP1 Nonsynonymous SNV E193K 0.167 0.174 0.201 88 196 67 0.226 59 19 5 5 12 27.7 22849 chr16 5094706 5094706 A G rs11642955 C16orf89 Nonsynonymous SNV Y363H 0.117 0.117 0.085 69 137 45 0.177 25 25 10 5 14 2.423 22850 chr16 67979673 67979673 C T rs201649886 SLC12A4 Synonymous SNV E949E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.66 22851 chr16 66945947 66945947 C T rs61735427 CDH16 Nonsynonymous SNV A452T 0.018 0.018 0.041 11 21 7 0.028 12 0 0 0 0 25.3 22852 chr17 8792029 8792029 A G rs381309 PIK3R5 Synonymous SNV L359L 0.463 0.435 0.395 189 543 167 0.485 116 124 41 27 43 Benign 0.044 22853 chr5 148386525 148386525 T G rs6871030 SH3TC2 Synonymous SNV P1198P 0.445 0.43 0.459 171 522 165 0.438 135 109 34 31 32 Benign 7.333 22854 chr17 8792514 8792514 G A rs394811 PIK3R5 Synonymous SNV H279H 0.453 0.424 0.395 189 532 163 0.485 116 123 41 27 43 Benign 3.199 22855 chr16 72829426 72829426 C T rs62639997 ZFHX3 Synonymous SNV P1471P 0.012 0.005 0.014 8 14 2 0.021 4 0 0 0 0 12.67 22856 chr17 8814719 8814719 G A rs56121082 PIK3R5 Synonymous SNV T31T 0.042 0.029 0.031 14 49 11 0.036 9 0 0 0 0 10.32 22857 chr5 148407708 148407708 A C rs1432794 SH3TC2 Synonymous SNV R529R 0.987 0.987 0.966 386 1159 379 0.99 284 572 187 137 191 Benign 0.013 22858 chr16 66958993 66958993 G A rs113404232 RRAD Synonymous SNV G30G 0.026 0.026 0.007 15 30 10 0.038 2 1 0 0 2 11.33 22859 chr17 9395231 9395231 G A rs9893664 STX8 Synonymous SNV D152D 0.902 0.901 0.871 350 1059 346 0.897 256 479 158 114 159 11.23 22860 chr5 148408101 148408101 A G rs1432793 SH3TC2 Synonymous SNV G398G 0.468 0.453 0.507 183 550 174 0.469 149 125 38 36 40 Benign 0.001 22861 chr17 9471711 9471711 T G rs1133295 STX8 Synonymous SNV R32R 0.799 0.813 0.782 304 938 312 0.779 230 373 128 88 120 4.124 22862 chr5 148737644 148737644 G C rs2291814 PCYOX1L Nonsynonymous SNV A5P 0.079 0.076 0.034 38 93 29 0.097 10 25 11 5 11 8.436 22863 chr16 55690724 55690724 A T rs376306835 SLC6A2 Nonsynonymous SNV N40Y 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 28.9 22864 chr17 9515777 9515777 G A rs6503235 CFAP52 Nonsynonymous SNV E268K 0.71 0.732 0.711 290 834 281 0.744 209 296 101 77 104 7.921 22865 chr5 148747902 148747902 G C rs4705336 PCYOX1L Nonsynonymous SNV E373D 0.141 0.164 0.19 58 165 63 0.149 56 11 4 5 6 14.49 22866 chr17 9586165 9586165 C T rs12453943 USP43 Synonymous SNV S377S 0.169 0.172 0.184 67 198 66 0.172 54 19 7 5 2 12.3 22867 chr17 970413 970413 C T rs2262150 ABR Synonymous SNV E144E 0.921 0.924 0.884 361 1081 355 0.926 260 498 164 124 168 14.02 22868 chr17 9725091 9725091 G A rs28590474 GSG1L2 Nonsynonymous SNV L100F 0.309 0.299 0.344 119 363 115 0.305 101 53 16 19 15 3.817 22869 chr5 148989122 148989122 C T rs2400891 ARHGEF37 Synonymous SNV L108L 0.529 0.523 0.503 215 621 201 0.551 148 166 52 33 63 12.72 22870 chr5 115338958 115338958 G T rs17138632 LVRN Nonsynonymous SNV V640F 0.019 0.026 0.024 12 22 10 0.031 7 0 0 0 1 23 22871 chr16 735532 735532 G A rs761607525 WDR24 Nonsynonymous SNV P582S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.881 22872 chr5 149001551 149001551 A C rs4629585 ARHGEF37 Nonsynonymous SNV M421L 0.342 0.331 0.299 137 401 127 0.351 88 72 21 13 25 0.346 22873 chr17 9725093 9725093 C T rs28376468 GSG1L2 Nonsynonymous SNV S99N 0.309 0.299 0.344 119 363 115 0.305 101 53 16 19 15 0.473 22874 chr16 74664698 74664698 A G rs78796563 RFWD3 Synonymous SNV L301L 0.045 0.036 0.041 12 53 14 0.031 12 1 0 1 0 6.454 22875 chr16 735684 735684 G A rs772566993 WDR24 Nonsynonymous SNV A558V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.044 22876 chr16 74671772 74671772 C T rs74603142 RFWD3 Synonymous SNV R114R 0.007 0.003 0.01 5 8 1 0.013 3 0 0 0 0 Benign 14.81 22877 chr17 9792768 9792768 G A rs17681684 GLP2R Nonsynonymous SNV D470N 0.202 0.221 0.207 83 237 85 0.213 61 30 10 7 6 2.203 22878 chr5 149003627 149003627 C T rs55915030 ARHGEF37 Nonsynonymous SNV A463V 0.096 0.099 0.078 41 113 38 0.105 23 10 1 3 5 0.606 22879 chr16 68405489 68405489 G A rs201650319 SMPD3 Nonsynonymous SNV A199V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.884 22880 chr16 74490556 74490556 G A rs9945 GLG1 Synonymous SNV Y1110Y 0.195 0.169 0.133 70 229 65 0.179 39 19 6 0 3 10.06 22881 chr16 67325711 67325711 C T rs16957289 KCTD19 Nonsynonymous SNV E750K 0.065 0.068 0.082 35 76 26 0.09 24 2 0 0 4 23.6 22882 chr17 9792872 9792872 T C rs17681708 GLP2R Synonymous SNV H504H 0.202 0.221 0.207 82 237 85 0.21 61 30 10 7 6 0.01 22883 chr5 149006640 149006640 C T rs9324624 ARHGEF37 Nonsynonymous SNV P489L 0.434 0.461 0.483 180 509 177 0.462 142 107 37 29 46 33 22884 chr16 53692693 53692693 C T rs61743997 RPGRIP1L Synonymous SNV L447L 0.022 0.031 0.003 11 26 12 0.028 1 0 0 0 0 Benign/Likely benign 12.49 22885 chr16 68713730 68713730 G A rs2296409 CDH3 Synonymous SNV T185T 0.606 0.591 0.629 220 711 227 0.564 185 218 67 65 58 Benign 13.98 22886 chr18 10487918 10487918 C T rs3185480 APCDD1 Synonymous SNV L476L 0.397 0.385 0.398 131 466 148 0.336 117 94 32 26 22 10.77 22887 chr16 74709233 74709233 C A rs144526386 MLKL Nonsynonymous SNV G202V 0.042 0.036 0.034 11 49 14 0.028 10 0 0 1 0 3.825 22888 chr16 67397580 67397580 G C rs9922085 LRRC36 Nonsynonymous SNV R101P 0.072 0.068 0.099 39 84 26 0.1 29 3 0 0 4 11.06 22889 chr18 10691357 10691357 G A rs3748421 PIEZO2 Synonymous SNV A2292A 0.313 0.357 0.32 133 367 137 0.341 94 50 25 17 26 Benign 11.66 22890 chr16 68713823 68713823 C A rs2296408 CDH3 Synonymous SNV T216T 0.606 0.591 0.633 220 711 227 0.564 186 218 67 65 58 Benign 12.77 22891 chr5 149006726 149006726 A C rs7732714 ARHGEF37 Nonsynonymous SNV S518R 0.096 0.099 0.078 41 113 38 0.105 23 10 1 3 5 18.89 22892 chr16 4412007 4412007 C T rs35864045 CORO7, CORO7-PAM16 Synonymous SNV G434G 0.023 0.026 0.034 9 27 10 0.023 10 0 0 0 1 10.08 22893 chr18 10696227 10696227 C T rs2277860 PIEZO2 Synonymous SNV P2232P 0.316 0.359 0.327 136 371 138 0.349 96 51 26 17 28 Benign 14.3 22894 chr5 115428381 115428381 T G rs1129495 COMMD10 Nonsynonymous SNV I114S 0.06 0.063 0.051 31 71 24 0.079 15 6 0 1 3 8.46 22895 chr16 68716219 68716219 G C rs201726457 CDH3 Synonymous SNV V282V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 8.574 22896 chr18 10731428 10731428 C T rs2865121 PIEZO2 Nonsynonymous SNV R1611Q 0.257 0.281 0.255 99 302 108 0.254 75 46 21 8 11 Benign 9.99 22897 chr16 67409180 67409180 G A rs8052655 LRRC36 Nonsynonymous SNV G388S 0.072 0.068 0.095 39 84 26 0.1 28 3 0 0 4 33 22898 chr5 149008403 149008403 A G rs1056993 ARHGEF37 Synonymous SNV L564L 0.768 0.771 0.793 298 902 296 0.764 233 348 113 90 113 10.19 22899 chr16 68721470 68721470 T C rs2296405 CDH3 Synonymous SNV N487N 0.602 0.583 0.629 220 707 224 0.564 185 216 64 63 58 Benign 2.115 22900 chr18 10758023 10758023 G A rs7407105 PIEZO2 Synonymous SNV N1264N 0.834 0.818 0.806 319 979 314 0.818 237 412 127 97 128 Benign 10.19 22901 chr5 149008521 149008521 A G rs1135093 ARHGEF37 Nonsynonymous SNV M604V 0.747 0.753 0.741 294 877 289 0.754 218 347 113 86 113 0.001 22902 chr16 67418957 67418957 A G rs16957415 LRRC36 Nonsynonymous SNV S623G 0.065 0.068 0.082 34 76 26 0.087 24 2 0 0 4 9.852 22903 chr16 68725783 68725783 G A rs2274239 CDH3 Synonymous SNV K597K 0.595 0.568 0.612 209 698 218 0.536 180 211 62 58 55 Benign 9.278 22904 chr18 10759840 10759840 C A rs35033671 PIEZO2 Nonsynonymous SNV C1148F 0.168 0.174 0.187 67 197 67 0.172 55 21 5 7 3 Benign 23 22905 chr16 74808425 74808425 G A rs929881 FA2H Synonymous SNV L77L 0.351 0.32 0.259 105 412 123 0.269 76 70 18 19 11 Benign 9.014 22906 chr16 68729785 68729785 C A rs17715450 CDH3 Synonymous SNV R692R 0.56 0.534 0.585 190 657 205 0.487 172 186 54 53 46 Benign 22.7 22907 chr5 149360877 149360877 T C rs30832 SLC26A2 Nonsynonymous SNV I574T 0.996 0.995 0.986 387 1169 382 0.992 290 582 190 143 192 Benign 0.011 22908 chr16 74920191 74920191 G A rs14308 WDR59 Synonymous SNV R841R 0.214 0.203 0.214 77 251 78 0.197 63 24 9 9 7 11.24 22909 chr18 10762962 10762962 G A rs7241380 PIEZO2 Synonymous SNV L1002L 0.826 0.823 0.803 317 970 316 0.813 236 405 129 96 126 Benign 8.337 22910 chr16 67424122 67424122 G A rs11552319 TPPP3 Synonymous SNV S162S 0.066 0.068 0.075 34 78 26 0.087 22 2 0 0 4 11.38 22911 chr5 118484804 118484804 G A rs7734532 DMXL1 Synonymous SNV E1094E 0.417 0.401 0.425 176 490 154 0.451 125 102 27 22 37 3.473 22912 chr18 10763007 10763007 T C rs7227167 PIEZO2 Synonymous SNV T987T 0.83 0.823 0.81 319 974 316 0.818 238 409 129 98 128 Benign 0.425 22913 chr16 74773946 74773946 C T rs147632811 FA2H Nonsynonymous SNV R113Q 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.46 22914 chr16 67424412 67424412 T A rs11552322 TPPP3 Synonymous SNV A104A 0.06 0.055 0.075 28 70 21 0.072 22 1 0 0 2 10.67 22915 chr5 118513876 118513876 G A rs79460759 DMXL1 Nonsynonymous SNV A2358T 0.068 0.07 0.044 34 80 27 0.087 13 3 1 1 2 17.06 22916 chr16 69117505 69117505 A T TANGO6 Nonsynonymous SNV M1076L 0.002 0.013 0 0 2 5 0 0 0 0 0 0 27 22917 chr5 149374880 149374880 T - rs3832324 TIGD6 E345Kfs*11 0.597 0.552 0.548 236 701 212 0.605 161 204 58 39 69 22918 chr18 11886563 11886563 C G rs662515 MPPE1 Nonsynonymous SNV A246P 0.359 0.297 0.33 133 421 114 0.341 97 76 22 18 23 3.034 22919 chr16 67469733 67469733 C A rs5479 HSD11B2 Synonymous SNV T156T 0.062 0.068 0.082 33 73 26 0.085 24 1 0 0 3 Benign 14.36 22920 chr5 149374932 149374932 T C rs10875553 TIGD6 Nonsynonymous SNV Q327R 0.751 0.677 0.69 288 882 260 0.738 203 333 88 65 103 0.001 22921 chr16 69143481 69143481 T G rs2232227 HAS3 Synonymous SNV L61L 0.042 0.049 0.044 17 49 19 0.044 13 1 1 1 0 7.481 22922 chr16 67469915 67469915 G A rs45483293 HSD11B2 Synonymous SNV E178E 0.058 0.055 0.075 26 68 21 0.067 22 0 0 0 2 Benign 1.494 22923 chr18 12094031 12094031 G T rs11664969 ANKRD62 Synonymous SNV G5G 0.215 0.219 0.316 96 252 84 0.246 93 28 10 14 15 0.622 22924 chr18 12096249 12096249 G T rs1986751 ANKRD62 Nonsynonymous SNV A188S 0.736 0.74 0.616 278 864 284 0.713 181 317 106 58 101 6.431 22925 chr16 67516945 67516945 C T rs5030980 AGRP Nonsynonymous SNV A67T 0.058 0.055 0.075 27 68 21 0.069 22 0 0 0 2 Pathogenic, association 22.7 22926 chr5 149406271 149406271 C T rs6579767 HMGXB3 Nonsynonymous SNV A322V 0.76 0.693 0.701 302 892 266 0.774 206 340 96 69 112 14.58 22927 chr16 69143816 69143816 G A rs2232229 HAS3 Nonsynonymous SNV R173H 0.035 0.018 0.024 15 41 7 0.038 7 1 0 1 1 21.6 22928 chr18 12099654 12099654 T C rs6505715 ANKRD62 Nonsynonymous SNV C265R 0.733 0.74 0.595 278 861 284 0.713 175 317 106 57 101 0.002 22929 chr16 75574030 75574030 C T rs2242406 TMEM231 Synonymous SNV V324V 0.084 0.078 0.054 23 99 30 0.059 16 4 0 0 0 Benign 13.48 22930 chr5 149457678 149457678 G A rs2228422 CSF1R Synonymous SNV T242T 0.454 0.414 0.466 187 533 159 0.479 137 127 35 25 43 Benign 3.938 22931 chr16 4626203 4626203 C T rs566191131 C16orf96 Synonymous SNV A574A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 11.32 22932 chr16 67517179 67517179 C T rs34123523 AGRP Synonymous SNV E41E 0.065 0.068 0.068 34 76 26 0.087 20 1 0 0 3 10.31 22933 chr18 12348285 12348285 T C rs11553521 AFG3L2 Synonymous SNV E550E 0.723 0.721 0.741 300 849 277 0.769 218 311 99 84 113 Benign 2.542 22934 chr16 75590092 75590092 G C rs3743601 TMEM231 Nonsynonymous SNV S26R 0.082 0.078 0.048 23 96 30 0.059 14 3 0 0 0 Benign 26.2 22935 chr5 149460553 149460553 A G rs216123 CSF1R Synonymous SNV P28P 0.474 0.406 0.49 203 557 156 0.521 144 140 33 30 49 Benign 0.902 22936 chr18 12351342 12351342 C T rs11080572 AFG3L2 Synonymous SNV L463L 0.72 0.716 0.748 300 845 275 0.769 220 308 97 82 113 Benign 11.4 22937 chr5 149495395 149495395 T C rs246388 PDGFRB Synonymous SNV P1020P 0.424 0.443 0.415 178 498 170 0.456 122 123 41 29 38 Benign 0.01 22938 chr18 12984144 12984144 C A rs6505776 SEH1L Nonsynonymous SNV T342N 0.748 0.773 0.728 284 878 297 0.728 214 335 112 80 104 12.5 22939 chr16 75646576 75646576 G T rs3743599 ADAT1 Nonsynonymous SNV T116N 0.083 0.076 0.048 21 98 29 0.054 14 3 0 0 0 9.237 22940 chr16 67696365 67696365 G A rs35356834 PARD6A Nonsynonymous SNV V285I 0.065 0.055 0.078 28 76 21 0.072 23 1 0 0 3 12.32 22941 chr5 149497228 149497228 G A rs2228440 PDGFRB Synonymous SNV P966P 0.129 0.107 0.109 48 152 41 0.123 32 12 2 2 0 Benign 14.06 22942 chr16 75563330 75563330 G A rs3826107 CHST5 Nonsynonymous SNV T318M 0.167 0.167 0.221 73 196 64 0.187 65 9 3 10 4 24.9 22943 chr16 69364443 69364443 A G rs8057004 PDF Nonsynonymous SNV W11R 0.309 0.281 0.051 108 363 108 0.277 15 49 16 4 18 0.001 22944 chr16 56918068 56918112 ATTGGCGTGGTGCTCTTCCTCCTGCTCTATGTCATCTACAAGAAG - SLC12A3 I593_K607del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22945 chr18 13001512 13001512 G C rs4499304 CEP192 Nonsynonymous SNV G74A 0.517 0.531 0.493 197 607 204 0.505 145 166 56 35 55 0.002 22946 chr16 56918116 56918157 GGTGCGCATCTCAGCTGCGGGGCCTCGGCCCTCCTCCCCCAG - SLC12A3 E609Rfs*2 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22947 chr5 122165317 122165317 C T rs13662 SNX2 Synonymous SNV L395L 0.043 0.052 0.058 27 51 20 0.069 17 1 1 0 0 11.53 22948 chr5 149499672 149499672 T C rs246395 PDGFRB Synonymous SNV L803L 0.311 0.354 0.313 138 365 136 0.354 92 58 23 13 23 Benign 2.236 22949 chr16 75646685 75646685 G T rs3743598 ADAT1 Nonsynonymous SNV H80N 0.284 0.292 0.286 116 334 112 0.297 84 42 12 15 16 0.044 22950 chr16 67855107 67855107 C T rs62636658 TSNAXIP1 Nonsynonymous SNV H85Y 0.061 0.055 0.075 26 72 21 0.067 22 1 0 0 3 5.616 22951 chr16 75563746 75563746 T G rs8048818 CHST5 Synonymous SNV P179P 0.172 0.167 0.218 77 202 64 0.197 64 9 3 10 4 5.473 22952 chr5 149546828 149546828 C G rs2302275 CDX1 Nonsynonymous SNV P130R 0.35 0.271 0.146 136 411 104 0.349 43 151 40 18 46 11.28 22953 chr18 13038431 13038431 A G rs16940057 CEP192 Synonymous SNV T554T 0.077 0.068 0.058 25 90 26 0.064 17 4 1 1 0 0.007 22954 chr16 75563902 75563902 G C rs370344597 CHST5 Nonsynonymous SNV D127E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 22955 chr16 67860637 67860637 C T rs62620177 TSNAXIP1 Nonsynonymous SNV R136C 0.065 0.057 0.075 26 76 22 0.067 22 1 0 0 3 34 22956 chr18 13056682 13056682 G A rs2282542 CEP192 Nonsynonymous SNV V1365M 0.136 0.161 0.167 45 160 62 0.115 49 15 5 5 2 0.007 22957 chr16 69748869 69748869 G A rs1131341 NQO1 Nonsynonymous SNV R139W 0.041 0.057 0.048 15 48 22 0.038 14 2 1 0 0 31 22958 chr5 149583300 149583300 T C rs2240793 SLC6A7 Synonymous SNV F386F 0.757 0.763 0.704 297 889 293 0.762 207 341 108 77 107 2.915 22959 chr16 56969148 56969148 G A rs2217332 HERPUD1 Nonsynonymous SNV R50H 0.187 0.174 0.167 87 220 67 0.223 49 23 4 3 10 18.14 22960 chr16 75590113 75590113 C G rs3743602 TMEM231 Synonymous SNV R19R 0.228 0.255 0.286 107 268 98 0.274 84 23 10 14 13 Benign 11.57 22961 chr18 13068109 13068109 G A rs7228940 CEP192 Nonsynonymous SNV R1544H 0.135 0.161 0.167 47 159 62 0.121 49 14 5 5 2 26.4 22962 chr16 67867739 67867739 G T rs11558534 CENPT Nonsynonymous SNV S8R 0.065 0.057 0.068 26 76 22 0.067 20 1 0 0 3 11.13 22963 chr5 149583336 149583336 T C rs2240794 SLC6A7 Synonymous SNV D398D 0.781 0.784 0.745 302 917 301 0.774 219 362 116 85 110 1.853 22964 chr5 149585025 149585025 A C rs4705426 SLC6A7 Nonsynonymous SNV M514L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.822 22965 chr18 13068132 13068132 T C rs578208 CEP192 Nonsynonymous SNV S1552P 0.739 0.768 0.731 279 867 295 0.715 215 325 110 79 100 11.07 22966 chr5 149602608 149602608 A G rs2241694 CAMK2A Synonymous SNV D459D 0.918 0.914 0.929 370 1078 351 0.949 273 497 161 126 176 5.807 22967 chr16 47644827 47644827 A G rs778830883 PHKB Nonsynonymous SNV N485S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.6 22968 chr18 13069782 13069782 C T rs6505780 CEP192 Nonsynonymous SNV L1701F 0.744 0.779 0.735 285 874 299 0.731 216 332 113 80 104 11.3 22969 chr16 56701294 56701294 T A rs2298847 MT1G 0.129 0.125 0.177 52 151 48 0.133 52 13 0 4 4 5.243 22970 chr5 149677851 149677851 A G rs6579784 ARSI Synonymous SNV Y212Y 0.993 0.995 0.99 389 1166 382 0.997 291 579 190 144 194 0.002 22971 chr16 57059484 57059484 C T rs16965150 NLRC5 Nonsynonymous SNV S210L 0.047 0.039 0.034 25 55 15 0.064 10 3 0 0 1 3.831 22972 chr16 69973297 69973297 C T rs2270844 WWP2 Synonymous SNV L393L 0.045 0.063 0.037 9 53 24 0.023 11 1 0 0 0 15.31 22973 chr5 149776232 149776232 C T rs15251 TCOF1 Nonsynonymous SNV A1313V 0.293 0.266 0.31 121 344 102 0.31 91 56 13 14 22 Benign 26.1 22974 chr18 13092424 13092424 G A rs2027698 CEP192 Nonsynonymous SNV S2051N 0.077 0.068 0.058 25 90 26 0.064 17 4 1 1 0 2.351 22975 chr16 77246218 77246218 G A rs13331769 SYCE1L Nonsynonymous SNV R137Q 0.428 0.411 0.337 182 502 158 0.467 99 183 53 36 63 11.27 22976 chr5 125802027 125802027 G A rs62394179 GRAMD2B Nonsynonymous SNV E76K 0.256 0.224 0.282 97 301 86 0.249 83 38 14 15 12 12.61 22977 chr16 4796399 4796399 C T rs61746912 C16orf71 Nonsynonymous SNV S356F 0.071 0.063 0.065 22 83 24 0.056 19 4 1 0 0 11.99 22978 chr5 126140540 126140540 G A rs34224885 LMNB1 Synonymous SNV S144S 0.047 0.063 0.041 15 55 24 0.038 12 1 1 0 0 Benign 14.38 22979 chr16 700644 700644 G C rs13337278 WDR90 Nonsynonymous SNV S165T 0.079 0.089 0.071 43 93 34 0.11 21 4 0 1 3 23.3 22980 chr18 13095591 13095591 G A rs56913743 CEP192 Nonsynonymous SNV R2115Q 0.135 0.161 0.167 46 158 62 0.118 49 14 5 5 2 6.313 22981 chr5 149776355 149776355 G C rs45491898 TCOF1 Nonsynonymous SNV G1354A 0.052 0.034 0.048 13 61 13 0.033 14 0 1 0 1 Benign 23.6 22982 chr18 13095609 13095609 T C rs474337 CEP192 Nonsynonymous SNV L2121P 0.745 0.779 0.735 285 875 299 0.731 216 332 113 80 104 4.748 22983 chr5 149907533 149907533 T G rs2273235 NDST1 Synonymous SNV V227V 0.407 0.359 0.374 151 478 138 0.387 110 98 32 16 31 9.9 22984 chr16 70190570 70190570 C T rs141395281 PDPR Nonsynonymous SNV R710C 0.038 0.031 0.041 10 45 12 0.026 12 0 0 0 0 33 22985 chr16 681284 681284 C T rs8062289 WFIKKN1 Synonymous SNV L11L 0.128 0.109 0.075 62 150 42 0.159 22 13 1 1 10 9.281 22986 chr5 149907602 149907602 A G rs2273234 NDST1 Synonymous SNV P250P 0.399 0.359 0.361 146 469 138 0.374 106 94 33 16 30 0.006 22987 chr5 126887569 126887569 G A rs7522 PRRC1 Synonymous SNV A433A 0.329 0.354 0.412 120 386 136 0.308 121 58 24 22 12 16.12 22988 chr18 13100451 13100451 A G rs3737379 CEP192 Nonsynonymous SNV K2271E 0.077 0.068 0.058 25 90 26 0.064 17 4 1 1 0 24.6 22989 chr5 149919739 149919739 G C rs1290147 NDST1 Synonymous SNV T554T 0.543 0.544 0.554 220 638 209 0.564 163 173 56 50 68 12.93 22990 chr18 13116432 13116432 G T rs1786263 CEP192 Nonsynonymous SNV R2449L 0.744 0.773 0.724 283 874 297 0.726 213 333 112 77 102 22.2 22991 chr5 150051958 150051958 T C rs194134 MYOZ3 Nonsynonymous SNV S161P 0.996 0.997 0.993 384 1169 383 0.985 292 582 191 145 189 16.19 22992 chr16 77327018 77327018 G A rs35296483 ADAMTS18 Synonymous SNV C876C 0.129 0.109 0.143 49 152 42 0.126 42 11 0 3 4 2.591 22993 chr16 57015091 57015091 G C rs5880 CETP Nonsynonymous SNV A330P 0.042 0.029 0.037 8 49 11 0.021 11 0 0 0 0 Benign 25.4 22994 chr16 77328895 77328895 C T rs12935229 ADAMTS18 Synonymous SNV V805V 0.129 0.109 0.143 49 152 42 0.126 42 11 0 3 4 13.77 22995 chr16 48204078 48204078 T A rs61739606 ABCC11 Nonsynonymous SNV N1277Y 0.113 0.107 0.109 40 133 41 0.103 32 6 1 2 3 25.6 22996 chr18 13642721 13642721 T C rs12326169 LDLRAD4 Synonymous SNV L3L 0.647 0.622 0.599 237 760 239 0.608 176 253 74 48 70 3.191 22997 chr5 150097883 150097883 G C rs11954652 DCTN4 Nonsynonymous SNV F285L 0.09 0.086 0.122 28 106 33 0.072 36 6 1 2 0 15.38 22998 chr16 77328990 77328990 C A rs12935394 ADAMTS18 Nonsynonymous SNV A774S 0.129 0.109 0.143 48 152 42 0.123 42 11 0 3 4 11.84 22999 chr18 13826088 13826088 C T rs17848292 MC5R Synonymous SNV D108D 0.177 0.172 0.194 51 208 66 0.131 57 16 3 4 2 9.916 23000 chr16 77769834 77769834 G A rs308925 NUDT7 Nonsynonymous SNV R100H 0.175 0.182 0.201 73 206 70 0.187 59 16 6 7 5 9.34 23001 chr18 13826391 13826391 C G rs2236700 MC5R Nonsynonymous SNV F209L 0.217 0.211 0.214 65 255 81 0.167 63 24 9 5 3 23.9 23002 chr5 150227998 150227998 C T rs10065172 IRGM Synonymous SNV L105L 0.175 0.141 0.116 64 206 54 0.164 34 18 2 3 7 Pathogenic 1.324 23003 chr16 77353973 77353973 G T rs9930984 ADAMTS18 Nonsynonymous SNV L597I 0.402 0.406 0.432 155 472 156 0.397 127 100 26 25 25 1.426 23004 chr16 48242379 48242379 G A rs17822471 ABCC11 Nonsynonymous SNV T546M 0.118 0.109 0.095 41 139 42 0.105 28 8 2 1 4 19.14 23005 chr18 13826508 13826508 C T rs2236701 MC5R Synonymous SNV T248T 0.217 0.211 0.214 65 255 81 0.167 63 24 9 5 3 4.883 23006 chr5 150425467 150425467 G A rs2233299 TNIP1 Synonymous SNV G244G 0.306 0.305 0.259 118 359 117 0.303 76 58 18 16 19 14.81 23007 chr16 57060724 57060724 G A rs13339199 NLRC5 Synonymous SNV Q623Q 0.078 0.065 0.058 34 92 25 0.087 17 4 0 1 1 3.621 23008 chr16 705360 705360 T C rs3803697 WDR90 Nonsynonymous SNV V537A 0.289 0.263 0.31 123 339 101 0.315 91 62 11 17 20 0.347 23009 chr18 19079853 19079853 A G rs4800747 GREB1L Synonymous SNV E1185E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.386 23010 chr16 68712730 68712730 C A rs8049247 CDH3 Synonymous SNV I149I 0.128 0.12 0.129 46 150 46 0.118 38 12 4 4 3 Benign 23 23011 chr5 150436503 150436503 G C rs2233290 TNIP1 Nonsynonymous SNV P98A 0.101 0.099 0.099 30 119 38 0.077 29 4 2 1 3 11.58 23012 chr16 77359919 77359919 A T rs11640912 ADAMTS18 Nonsynonymous SNV L454I 0.353 0.367 0.361 141 414 141 0.362 106 84 19 18 22 23.6 23013 chr18 19100717 19100717 T C rs17720074 GREB1L Synonymous SNV S1847S 0.16 0.138 0.139 49 188 53 0.126 41 17 2 2 1 5.278 23014 chr18 19100758 19100758 - TCT rs10654340 GREB1L L1862_K1863insL 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 23015 chr5 150489390 150489390 A G rs1133202 ANXA6 Synonymous SNV P504P 0.73 0.708 0.735 302 857 272 0.774 216 317 100 79 115 1.074 23016 chr18 19153494 19153494 C T rs973730 ESCO1 Synonymous SNV T437T 0.807 0.799 0.786 303 947 307 0.777 231 386 121 90 114 10.55 23017 chr5 128844838 128844838 A G rs28630040 ADAMTS19 Synonymous SNV T272T 0.093 0.102 0.075 27 109 39 0.069 22 9 1 4 3 3.18 23018 chr18 19408950 19408950 C T rs9989532 MIR133A1HG 0 0 0.99 0 0 0 0 291 0 0 145 0 7.31 23019 chr5 150639409 150639409 A G rs153477 GM2A Nonsynonymous SNV I59V 0.664 0.714 0.663 274 779 274 0.703 195 254 93 67 93 Benign 0.001 23020 chr18 20953720 20953720 G A rs8099409 TMEM241 Nonsynonymous SNV L131F 0.42 0.38 0.418 162 493 146 0.415 123 100 30 29 36 11.73 23021 chr5 150639439 150639439 A G rs153478 GM2A Nonsynonymous SNV M69V 0.69 0.742 0.697 288 810 285 0.738 205 274 103 76 105 Benign 0.002 23022 chr18 21100240 21100240 C T rs1367083 RMC1 Synonymous SNV P151P 0.393 0.404 0.371 131 461 155 0.336 109 82 32 21 22 13.6 23023 chr16 705795 705795 C T rs12599798 WDR90 Synonymous SNV S624S 0.096 0.096 0.071 49 113 37 0.126 21 10 1 0 4 11.87 23024 chr16 57695758 57695758 C T ADGRG1 Nonsynonymous SNV T610I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 24.7 23025 chr18 21109250 21109250 T C rs1788825 RMC1 Synonymous SNV F311F 0.602 0.609 0.629 230 707 234 0.59 185 206 75 61 64 0.023 23026 chr16 705844 705844 T C rs8051645 WDR90 Synonymous SNV L641L 0.289 0.263 0.31 122 339 101 0.313 91 62 11 17 20 0.452 23027 chr5 150647012 150647012 A G rs1048723 GM2A Synonymous SNV X194X 0.326 0.357 0.269 102 383 137 0.262 79 66 29 9 11 Benign 3.768 23028 chr18 21112206 21112206 C T rs1805084 NPC1 Nonsynonymous SNV R1266Q 0.049 0.044 0.054 13 58 17 0.033 16 1 1 1 0 Benign 18.23 23029 chr16 81095439 81095439 T C rs777995234 C16orf46 Nonsynonymous SNV N172S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 23030 chr5 150667016 150667016 T C rs978012 SLC36A3 Nonsynonymous SNV K167E 0.44 0.479 0.367 175 517 184 0.449 108 117 39 16 33 12.91 23031 chr16 4920335 4920335 A G rs35103368 UBN1 Nonsynonymous SNV Y435C 0.028 0.018 0.031 9 33 7 0.023 9 0 1 0 0 4.278 23032 chr18 21119777 21119777 G A rs1140458 NPC1 Synonymous SNV N931N 0.382 0.385 0.364 126 449 148 0.323 107 77 28 19 20 Benign 14.28 23033 chr16 78064733 78064733 C A rs2072663 CLEC3A Nonsynonymous SNV Q197K 0.126 0.115 0.102 63 148 44 0.162 30 9 5 1 3 13.73 23034 chr5 150696447 150696447 C T rs369907 SLC36A2 Synonymous SNV Q461Q 0.565 0.654 0.558 213 663 251 0.546 164 184 85 37 55 11.96 23035 chr18 21120444 21120444 T C rs1805082 NPC1 Nonsynonymous SNV I858V 0.382 0.385 0.364 127 449 148 0.326 107 77 28 19 20 Benign 20.9 23036 chr5 150696498 150696498 G A rs428064 SLC36A2 Synonymous SNV D444D 0.402 0.435 0.299 145 472 167 0.372 88 93 35 8 31 10.45 23037 chr16 78312527 78312527 A G rs77067228 WWOX Nonsynonymous SNV K182E 0.12 0.107 0.044 29 141 41 0.074 13 12 1 1 1 Likely benign 3.806 23038 chr18 21124945 21124945 C G rs1788799 NPC1 Nonsynonymous SNV M642I 0.58 0.594 0.612 227 681 228 0.582 180 201 75 62 63 Benign 12.77 23039 chr16 49314837 49314837 T G rs61735589 CBLN1 Synonymous SNV I127I 0.042 0.044 0.031 13 49 17 0.033 9 3 0 0 0 2.458 23040 chr5 150696540 150696540 C T rs431240 SLC36A2 Synonymous SNV T430T 0.565 0.654 0.558 213 663 251 0.546 164 184 85 37 55 17.63 23041 chr16 709001 709001 C A rs4984906 WDR90 Nonsynonymous SNV P1001T 0.29 0.263 0.306 121 340 101 0.31 90 61 11 17 20 0.002 23042 chr5 150723806 150723806 G A rs192192 SLC36A2 Synonymous SNV L63L 0.552 0.628 0.558 207 648 241 0.531 164 180 78 37 54 7.595 23043 chr16 81211496 81211496 C A rs9935113 PKD1L2 Nonsynonymous SNV G100C 0.183 0.206 0.18 78 215 79 0.2 53 20 3 5 6 10.3 23044 chr18 21140432 21140432 T C rs1805081 NPC1 Nonsynonymous SNV H215R 0.296 0.307 0.282 106 347 118 0.272 83 44 17 11 13 Benign 1.517 23045 chr5 150867719 150867719 C T rs78441677 SLC36A1 Synonymous SNV F445F 0.033 0.057 0.044 26 39 22 0.067 13 1 1 0 1 17.77 23046 chr16 711712 711712 C T rs3177415 WDR90 Synonymous SNV G1263G 0.288 0.26 0.306 120 338 100 0.308 90 62 11 17 20 13.43 23047 chr16 81211548 81211548 G A rs9934605 PKD1L2 Synonymous SNV I82I 0.183 0.206 0.18 78 215 79 0.2 53 20 3 5 6 11.42 23048 chr5 150886725 150886725 G A rs7723266 FAT2 Synonymous SNV S4169S 0.837 0.883 0.854 316 983 339 0.81 251 411 149 108 125 12.53 23049 chr16 711905 711905 A G rs2301426 WDR90 Synonymous SNV P1293P 0.288 0.26 0.306 120 338 100 0.308 90 62 11 17 20 0.112 23050 chr18 21229101 21229101 C T rs149385295 ANKRD29 Synonymous SNV A26A 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 19.31 23051 chr5 131602166 131602166 T C rs1007602 PDLIM4 Synonymous SNV G85G 0.652 0.635 0.629 267 766 244 0.685 185 248 78 62 89 6.429 23052 chr5 150886882 150886882 G A rs1105168 FAT2 Nonsynonymous SNV P4117L 0.545 0.576 0.582 186 640 221 0.477 171 171 54 54 36 7.883 23053 chr18 21413869 21413869 T C rs9962023 LAMA3 Synonymous SNV A967A 0.779 0.768 0.806 295 914 295 0.756 237 349 115 94 112 Benign 0.066 23054 chr16 81010073 81010073 C T rs1127390 CMC2 Nonsynonymous SNV V87I 0.156 0.13 0.187 57 183 50 0.146 55 14 4 7 3 0.247 23055 chr5 131663062 131663062 T C rs272893 SLC22A4 Nonsynonymous SNV I306T 0.624 0.602 0.548 241 733 231 0.618 161 232 66 46 72 12.57 23056 chr18 21437931 21437931 G C rs867449 LAMA3 Synonymous SNV G1420G 0.685 0.669 0.673 269 804 257 0.69 198 270 85 66 93 Benign 5.172 23057 chr16 81219187 81219187 C T rs13339342 PKD1L2 Nonsynonymous SNV R636H 0.164 0.185 0.18 68 192 71 0.174 53 15 2 5 6 13.71 23058 chr5 150891733 150891733 A G rs2304028 FAT2 Synonymous SNV H3966H 0.733 0.771 0.762 268 861 296 0.687 224 311 113 86 93 0.074 23059 chr16 4925010 4925010 G C rs568629414 UBN1 Nonsynonymous SNV A867P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.324 23060 chr18 21441717 21441717 C T rs12965685 LAMA3 Synonymous SNV P1510P 0.681 0.669 0.67 268 799 257 0.687 197 268 85 65 93 Benign 10.83 23061 chr5 131670546 131670546 C G rs272879 SLC22A4 Synonymous SNV T394T 0.604 0.57 0.537 237 709 219 0.608 158 218 62 45 71 9.524 23062 chr18 21511089 21511089 A G rs1154233 LAMA3 Nonsynonymous SNV S1169G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.003 23063 chr5 131676320 131676320 C T rs1050152 SLC22A4 Nonsynonymous SNV L503F 0.436 0.417 0.388 166 512 160 0.426 114 116 36 20 32 Benign 8.265 23064 chr5 150891772 150891772 C G rs2304029 FAT2 Nonsynonymous SNV Q3953H 0.029 0.055 0.037 23 34 21 0.059 11 1 1 0 1 11.61 23065 chr18 21710321 21710321 C T rs12970083 TTC39C Synonymous SNV N214N 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 11.87 23066 chr18 21736933 21736933 T G rs1049683 CABYR Nonsynonymous SNV S392A 0.857 0.867 0.878 329 1006 333 0.844 258 441 150 114 138 14.04 23067 chr5 150901111 150901111 A G rs3822699 FAT2 Synonymous SNV D3681D 0.731 0.755 0.762 264 858 290 0.677 224 311 107 86 92 0.034 23068 chr16 81087679 81087679 C G rs12928648 C16orf46 Nonsynonymous SNV K388N 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 25.7 23069 chr5 150901261 150901261 C T rs6650971 FAT2 Nonsynonymous SNV M3631I 0.731 0.755 0.762 264 858 290 0.677 224 311 107 86 92 11.52 23070 chr18 21739725 21739725 T C rs1049684 CABYR Synonymous SNV P179P 0.342 0.294 0.313 154 402 113 0.395 92 68 16 12 31 10.54 23071 chr18 22020543 22020543 C G rs677688 IMPACT Nonsynonymous SNV L151V 0.936 0.94 0.929 362 1099 361 0.928 273 517 169 127 168 0.048 23072 chr16 81094792 81094792 G A rs12929250 C16orf46 Nonsynonymous SNV P388S 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 23.2 23073 chr16 4940187 4940187 T C PPL Nonsynonymous SNV K771E 0.005 0.018 0 0 6 7 0 0 0 0 0 0 17.6 23074 chr5 150901300 150901300 G A rs3734046 FAT2 Synonymous SNV Y3618Y 0.731 0.755 0.762 264 858 290 0.677 224 311 107 86 92 7.32 23075 chr18 22775185 22775185 C T rs1140026 ZNF521 Synonymous SNV K979K 0.28 0.276 0.34 96 329 106 0.246 100 45 13 16 12 12.68 23076 chr5 150901613 150901613 A G rs2053028 FAT2 Nonsynonymous SNV L3514S 0.733 0.758 0.762 264 861 291 0.677 224 313 108 86 92 0.729 23077 chr18 22807567 22807567 G A rs145068263 ZNF521 Synonymous SNV C105C 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 Benign 6.475 23078 chr18 23866185 23866185 G C rs74947492 TAF4B Nonsynonymous SNV V438L 0.119 0.112 0.095 47 140 43 0.121 28 5 2 0 5 10.47 23079 chr5 150901699 150901699 C T rs3734050 MIR6499 0.029 0.044 0.075 21 34 17 0.054 22 1 3 2 1 2.348 23080 chr18 252559 252559 G A rs657138 THOC1 Synonymous SNV D219D 0.999 0.995 0.986 387 1173 382 0.992 290 586 190 144 192 12.82 23081 chr5 150905398 150905398 C T rs3734051 FAT2 Synonymous SNV P3479P 0.309 0.318 0.276 139 363 122 0.356 81 50 11 10 24 17.66 23082 chr18 2539016 2539016 C G rs8084295 METTL4 Nonsynonymous SNV V468L 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.141 23083 chr16 715990 715990 G A rs7190775 WDR90 Nonsynonymous SNV R1492H 0.287 0.258 0.296 119 337 99 0.305 87 61 11 17 20 5.618 23084 chr16 58589187 58589187 G A rs9941175 CNOT1 Synonymous SNV F948F 0.014 0.01 0 3 17 4 0.008 0 0 0 0 0 9.007 23085 chr5 150923405 150923405 A G rs6892335 FAT2 Nonsynonymous SNV F2428S 0.993 1 0.993 386 1166 384 0.99 292 579 192 145 191 12.84 23086 chr18 2547500 2547500 G T rs2677879 METTL4 Nonsynonymous SNV Q310K 0.687 0.641 0.673 246 807 246 0.631 198 276 84 69 77 3.148 23087 chr16 70708230 70708230 C T MTSS2 Nonsynonymous SNV M344I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 23088 chr16 58713894 58713894 A G rs7193572 SLC38A7 Nonsynonymous SNV L46P 0.017 0.01 0.01 2 20 4 0.005 3 1 0 1 0 8.461 23089 chr16 716273 716273 T C rs11866949 WDR90 Nonsynonymous SNV C1555R 0.106 0.096 0.082 53 124 37 0.136 24 12 1 1 3 0.025 23090 chr5 150924769 150924769 G A rs998076 FAT2 Synonymous SNV Y1973Y 0.06 0.07 0.085 24 71 27 0.062 25 3 0 0 1 0.002 23091 chr16 81232294 81232294 T C rs61734110 PKD1L2 Nonsynonymous SNV I506V 0.039 0.034 0.048 13 46 13 0.033 14 1 0 1 0 0.002 23092 chr18 25543387 25543387 G A rs1041985 CDH2 Synonymous SNV A785A 0.318 0.339 0.33 103 373 130 0.264 97 53 20 13 14 13.79 23093 chr5 150925144 150925144 A G rs3797875 FAT2 Synonymous SNV P1848P 0.856 0.859 0.806 328 1005 330 0.841 237 430 143 93 139 0.022 23094 chr16 58713998 58713998 G A rs34698978 SLC38A7 Synonymous SNV S11S 0.017 0.01 0.01 2 20 4 0.005 3 1 0 1 0 2.503 23095 chr16 50709723 50709723 G A rs6596 SNX20 Synonymous SNV I80I 0.155 0.135 0.173 62 182 52 0.159 51 16 3 2 5 12.15 23096 chr18 25565082 25565082 A G rs1220144 CDH2 Synonymous SNV R666R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.076 23097 chr5 134670765 134670765 A G rs3210047 MACROH2A1 Synonymous SNV S339S 0.076 0.073 0.068 47 89 28 0.121 20 2 0 0 4 4.173 23098 chr16 716287 716287 C A rs9934288 WDR90 Synonymous SNV T1559T 0.066 0.06 0.058 28 77 23 0.072 17 5 0 0 2 16.19 23099 chr5 150942919 150942919 A G rs6872614 FAT2 Nonsynonymous SNV Y1181H 0.997 1 0.997 388 1171 384 0.995 293 584 192 146 193 11.72 23100 chr18 25570228 25570228 G C rs1628684 CDH2 Synonymous SNV P446P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.348 23101 chr18 2705700 2705700 A G rs635132 SMCHD1 Synonymous SNV T617T 0.699 0.677 0.551 277 821 260 0.71 162 295 91 42 98 Benign 4.294 23102 chr16 52473584 52473584 G A rs148327560 TOX3 Synonymous SNV P428P 0.018 0.018 0.014 5 21 7 0.013 4 0 1 0 0 1.985 23103 chr18 2707619 2707619 G A rs2276092 SMCHD1 Nonsynonymous SNV V708I 0.733 0.69 0.653 281 861 265 0.721 192 325 93 58 103 Benign 10.08 23104 chr5 150942969 150942969 G A rs2304053 FAT2 Nonsynonymous SNV P1164L 0.542 0.552 0.456 190 636 212 0.487 134 175 53 27 47 18.78 23105 chr16 50744624 50744624 C T rs2066842 NOD2 Nonsynonymous SNV P241S 0.29 0.276 0.289 106 340 106 0.272 85 48 17 7 10 Benign 0.001 23106 chr18 2724930 2724930 A T rs633422 SMCHD1 Nonsynonymous SNV K879N 0.382 0.409 0.327 159 448 157 0.408 96 67 36 16 36 Benign 16.28 23107 chr16 717523 717523 G T rs3752493 WDR90 Synonymous SNV P1727P 0.289 0.26 0.306 119 339 100 0.305 90 62 11 17 19 5.668 23108 chr5 150943085 150943085 G A rs2304054 FAT2 Synonymous SNV I1125I 0.548 0.557 0.463 196 643 214 0.503 136 178 54 27 50 14.8 23109 chr16 50744939 50744939 C T rs145293873 NOD2 Nonsynonymous SNV R346C 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 Uncertain significance 16.54 23110 chr5 150945483 150945483 C T rs3734055 FAT2 Nonsynonymous SNV G1004S 0.548 0.557 0.463 196 643 214 0.503 136 178 54 27 50 13.41 23111 chr18 2740714 2740714 A G rs12327477 SMCHD1 Synonymous SNV T1176T 0.3 0.255 0.224 116 352 98 0.297 66 50 19 8 17 Benign 0.405 23112 chr16 717544 717544 G C rs3752492 WDR90 Synonymous SNV T1734T 0.103 0.096 0.078 53 121 37 0.136 23 12 1 1 3 2.821 23113 chr16 81242102 81242102 G A rs6420424 PKD1L2 Nonsynonymous SNV R252W 0.335 0.346 0.313 117 393 133 0.3 92 65 27 15 16 11.89 23114 chr16 597764 597764 G A rs74988150 CAPN15 Nonsynonymous SNV R309H 0.018 0.021 0.02 3 21 8 0.008 6 0 0 0 0 0.558 23115 chr18 2750477 2750477 A G rs2304859 SMCHD1 Synonymous SNV A1379A 0.315 0.266 0.221 119 370 102 0.305 65 49 19 8 17 Benign 5.528 23116 chr16 50745199 50745199 C T rs2066843 NOD2 Synonymous SNV R432R 0.29 0.276 0.293 103 341 106 0.264 86 49 17 8 10 Benign 3.092 23117 chr18 2763697 2763697 C T rs483547 SMCHD1 Synonymous SNV G1543G 0.383 0.409 0.33 160 450 157 0.41 97 67 36 16 36 Benign 6.339 23118 chr16 81398665 81398665 T C rs368072478 GAN Synonymous SNV Y441Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 23119 chr5 150945699 150945699 G A rs10085060 FAT2 Synonymous SNV L932L 0.547 0.557 0.463 196 642 214 0.503 136 177 54 27 50 4.582 23120 chr16 81242149 81242150 TT - rs548490632 PKD1L2 N236Pfs*26 0.311 0.32 0.289 108 365 123 0.277 85 55 23 12 14 23121 chr18 28610988 28610988 C T rs276938 DSC3 Nonsynonymous SNV R102K 0.336 0.328 0.367 117 394 126 0.3 108 56 19 22 17 0.15 23122 chr16 597905 597905 T C rs76534191 CAPN15 Nonsynonymous SNV V356A 0.019 0.023 0.02 3 22 9 0.008 6 0 0 0 0 0.001 23123 chr5 135178142 135178142 A G rs6596270 SLC25A48 Synonymous SNV T28T 0.25 0.229 0.218 108 294 88 0.277 64 40 14 9 16 0.547 23124 chr16 81242151 81242151 T C rs5818326 PKD1L2 Synonymous SNV G235G 0.311 0.32 0.289 108 365 123 0.277 85 55 23 12 14 2.887 23125 chr5 150945862 150945862 A G rs3734057 FAT2 Synonymous SNV V877V 0.547 0.557 0.463 196 642 214 0.503 136 177 54 27 50 0.784 23126 chr16 719592 719592 G A rs11557858 RHOT2 Nonsynonymous SNV A88T 0.101 0.089 0.071 50 118 34 0.128 21 10 1 0 4 12.01 23127 chr18 28611061 28611061 A T rs276937 DSC3 Nonsynonymous SNV S78T 0.334 0.328 0.371 117 392 126 0.3 109 56 19 22 17 1.865 23128 chr16 818664 818664 G A rs148180768 MSLN Synonymous SNV T608T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.87 23129 chr16 597918 597918 C T rs79609879 CAPN15 Synonymous SNV C360C 0.017 0.018 0.01 3 20 7 0.008 3 0 0 0 0 0.838 23130 chr5 150945931 150945931 C T rs3734058 FAT2 Synonymous SNV R854R 0.547 0.557 0.463 196 642 214 0.503 136 177 54 27 50 9.561 23131 chr16 81922813 81922813 C T rs1143687 PLCG2 Nonsynonymous SNV R268W 0.101 0.094 0.048 35 119 36 0.09 14 5 0 1 1 Benign 34 23132 chr5 135216503 135216503 C T rs10077832 SLC25A48 Nonsynonymous SNV S144L 0.032 0.036 0 7 37 14 0.018 0 1 0 0 0 10.02 23133 chr16 598118 598118 T C rs116683117 CAPN15 Nonsynonymous SNV L427P 0.018 0.021 0.02 3 21 8 0.008 6 0 0 0 0 0.205 23134 chr5 150946132 150946132 G A rs3734059 FAT2 Synonymous SNV I787I 0.547 0.557 0.459 196 642 214 0.503 135 177 54 27 50 0.603 23135 chr16 720152 720152 T C rs3752487 RHOT2 Star tloss M1? 0.068 0.057 0.065 37 80 22 0.095 19 4 0 0 3 0.087 23136 chr18 28611139 28611139 A C rs276936 DSC3 0.993 0.984 0.99 387 1166 378 0.992 291 583 189 145 193 Benign 15.61 23137 chr16 58076138 58076138 C T rs200617077 MMP15 Nonsynonymous SNV R390C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 23138 chr5 150946436 150946436 A G rs9324700 FAT2 Nonsynonymous SNV F686S 0.548 0.557 0.463 196 643 214 0.503 136 178 54 27 50 0.254 23139 chr16 720960 720960 C T rs3743912 RHOT2 Synonymous SNV N185N 0.079 0.076 0.061 43 93 29 0.11 18 3 0 0 2 11.22 23140 chr16 81929527 81929527 C G rs13333716 PLCG2 Synonymous SNV T396T 0.042 0.023 0.048 20 49 9 0.051 14 0 0 0 0 Benign 8.937 23141 chr18 28673565 28673565 T C rs12954874 DSC2 Synonymous SNV L37L 0.124 0.125 0.129 54 145 48 0.138 38 9 0 2 1 Benign 0.009 23142 chr16 81248745 81248745 A G rs8060294 PKD1L2 Nonsynonymous SNV L173S 0.249 0.25 0.207 68 292 96 0.174 61 28 16 8 5 2.751 23143 chr18 28710615 28710615 C A rs1816634 DSC1 Synonymous SNV S849S 0.033 0.047 0.044 11 39 18 0.028 13 0 1 0 0 13.68 23144 chr18 28710619 28710619 C A rs985861 DSC1 Nonsynonymous SNV C848F 0.033 0.047 0.044 11 39 18 0.028 13 0 1 0 0 22.8 23145 chr5 150946773 150946773 G A rs1432862 FAT2 Nonsynonymous SNV R574C 0.549 0.557 0.459 196 644 214 0.503 135 179 54 27 50 24.3 23146 chr16 614763 614763 T C rs113355349 PRR35 Nonsynonymous SNV L391P 0.112 0.091 0.078 47 131 35 0.121 23 13 2 2 7 0.024 23147 chr16 81971403 81971403 T C rs1071644 PLCG2 Synonymous SNV N1031N 0.601 0.586 0.568 206 705 225 0.528 167 217 65 48 49 Benign 8.518 23148 chr18 28713994 28713994 A G rs28620831 DSC1 Nonsynonymous SNV M659T 0.025 0.031 0.048 12 29 12 0.031 14 0 0 0 0 2.083 23149 chr5 150946780 150946780 C A rs35225143 FAT2 Synonymous SNV G571G 0.068 0.057 0.031 29 80 22 0.074 9 3 1 0 1 0.728 23150 chr16 81253745 81253745 C G rs9934272 PKD1L2 Nonsynonymous SNV K77N 0.244 0.245 0.19 65 286 94 0.167 56 28 14 6 5 13.72 23151 chr5 150946966 150946966 G A rs1465690 FAT2 Synonymous SNV P509P 0.93 0.948 0.915 365 1092 364 0.936 269 508 172 124 170 0.006 23152 chr5 135277241 135277242 CT - rs201710574 FBXL21P 0.013 0.016 0.031 7 15 6 0.018 9 0 0 0 0 23153 chr18 2885118 2885118 C T rs592120 EMILIN2 Synonymous SNV N138N 0.248 0.284 0.245 98 291 109 0.251 72 42 15 12 20 4.009 23154 chr16 71710428 71710428 G A rs61733123 PHLPP2 Synonymous SNV L465L 0.095 0.096 0.109 34 111 37 0.087 32 4 0 2 1 10.9 23155 chr5 150947719 150947719 C T rs3734060 FAT2 Synonymous SNV S258S 0.548 0.557 0.459 196 643 214 0.503 135 178 54 27 50 13.33 23156 chr18 2892474 2892474 G A rs16943989 EMILIN2 Synonymous SNV Q783Q 0.124 0.109 0.18 40 145 42 0.103 53 14 0 3 2 0.828 23157 chr5 150948016 150948016 C T rs3734062 FAT2 Synonymous SNV E159E 0.057 0.07 0.085 20 67 27 0.051 25 3 0 0 1 9.503 23158 chr16 722331 722331 C T rs3177338 RHOT2 Nonsynonymous SNV R374C 0.297 0.263 0.333 131 349 101 0.336 98 64 11 19 23 23.8 23159 chr18 28934681 28934681 A T rs3752095 DSG1 Nonsynonymous SNV Y841F 0.188 0.188 0.18 56 221 72 0.144 53 17 4 5 1 Benign 24.7 23160 chr5 151771817 151771817 C T rs1363422 NMUR2 Nonsynonymous SNV A395T 0.997 0.995 0.993 387 1170 382 0.992 292 583 190 145 192 0.193 23161 chr16 722548 722548 A G rs1128550 RHOT2 Synonymous SNV G411G 0.299 0.266 0.337 128 351 102 0.328 99 64 11 20 22 0.188 23162 chr18 28956904 28956904 C T rs36101975 DSG4 Synonymous SNV C10C 0.186 0.18 0.167 61 218 69 0.156 49 20 7 4 1 Benign 11.29 23163 chr5 151784183 151784183 G A rs3749787 NMUR2 Synonymous SNV L164L 0.193 0.211 0.184 70 226 81 0.179 54 28 6 5 6 0.276 23164 chr5 135692575 135692575 G A rs2546661 TRPC7 Synonymous SNV P167P 0.187 0.174 0.156 54 220 67 0.138 46 21 2 3 1 7.723 23165 chr18 28968371 28968371 G A rs16959856 DSG4 Synonymous SNV R86R 0.809 0.833 0.796 296 950 320 0.759 234 389 136 92 115 Benign 0.558 23166 chr16 58552927 58552927 A T rs138410587 SETD6 Synonymous SNV T472T 0.003 0 0.014 0 3 0 0 4 0 0 0 0 0.001 23167 chr16 83065664 83065664 G A rs6565105 CDH13 Synonymous SNV S69S 0.548 0.516 0.49 216 643 198 0.554 144 176 52 32 56 Benign 14.22 23168 chr18 28968959 28968959 C T rs9956865 DSG4 Synonymous SNV S165S 0.81 0.833 0.799 296 951 320 0.759 235 390 136 93 115 Benign 13 23169 chr5 153054069 153054069 G A GRIA1 Nonsynonymous SNV D157N 0 0 0 0 0 0 0 0 0 0 0 0 26.4 23170 chr5 136969793 136969793 C T rs2301708 KLHL3 Synonymous SNV E379E 0.157 0.148 0.17 73 184 57 0.187 50 16 5 5 9 Benign 14.63 23171 chr18 28986333 28986333 A C rs4799570 DSG4 Nonsynonymous SNV I644L 0.922 0.94 0.905 354 1083 361 0.908 266 500 171 120 159 Benign 2.1 23172 chr5 153413390 153413390 C T rs2578377 FAM114A2 Nonsynonymous SNV G52S 0.599 0.596 0.548 220 703 229 0.564 161 215 66 42 60 16.04 23173 chr16 81295827 81295827 C T rs200428274 BCO1 Nonsynonymous SNV A137V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 23174 chr18 28993183 28993183 A G rs12960081 DSG4 Synonymous SNV P935P 0.497 0.503 0.463 193 584 193 0.495 136 154 49 32 48 Benign 0.008 23175 chr16 83999033 83999033 A G rs173776 OSGIN1 Synonymous SNV S285S 0.242 0.266 0.313 124 284 102 0.318 92 34 15 18 19 0.003 23176 chr5 153429459 153429459 T C rs690592 MFAP3 Synonymous SNV D59D 0.599 0.596 0.548 220 703 229 0.564 161 215 66 41 60 0.701 23177 chr18 28993501 28993501 C A rs7234288 DSG4 Synonymous SNV P1041P 0.784 0.82 0.782 300 921 315 0.769 230 361 129 89 116 Benign 5.535 23178 chr16 84050209 84050209 G A rs77876966 SLC38A8 Synonymous SNV L359L 0.088 0.068 0.112 30 103 26 0.077 33 5 0 2 0 5.719 23179 chr5 153432733 153432733 T C rs2578386 MFAP3 Synonymous SNV A37A 0.598 0.596 0.548 220 702 229 0.564 161 214 66 41 60 5.441 23180 chr18 29055635 29055635 C T rs117661169 DSG3 Synonymous SNV D804D 0.046 0.044 0.037 16 54 17 0.041 11 3 1 1 0 15.48 23181 chr16 56226545 56226545 T C rs201413721 DKFZP434H168 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.724 23182 chr18 29055957 29055957 A G rs1380866 DSG3 Nonsynonymous SNV T912A 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 1.116 23183 chr5 153432970 153432970 C T rs2255493 MFAP3 Synonymous SNV D116D 0.599 0.596 0.548 220 703 229 0.564 161 215 66 41 60 13.06 23184 chr5 137244517 137244517 G A rs1880458 PKD2L2 Nonsynonymous SNV V382I 0.779 0.737 0.762 319 915 283 0.818 224 353 105 84 130 14.32 23185 chr16 84163863 84163863 T C HSDL1 Nonsynonymous SNV I132V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.159 23186 chr5 154268902 154268902 C T rs816739 GEMIN5 Synonymous SNV A1445A 0.993 1 0.986 384 1166 384 0.985 290 579 192 143 189 12.61 23187 chr18 2922149 2922149 G A rs17555442 LPIN2 Synonymous SNV A741A 0.029 0.018 0.02 8 34 7 0.021 6 0 0 0 0 Conflicting interpretations of pathogenicity 14.11 23188 chr16 53907750 53907750 G A rs756887326 FTO Synonymous SNV R290R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.4 23189 chr16 816977 816977 G A rs35935235 MSLN Nonsynonymous SNV G497E 0.039 0.039 0.027 15 46 15 0.038 8 0 1 0 0 4.309 23190 chr5 154271948 154271948 G A rs816736 GEMIN5 Synonymous SNV D1252D 0.993 1 0.986 384 1166 384 0.985 290 579 192 143 189 0.028 23191 chr18 29454644 29454644 A G rs2276145 TRAPPC8 Synonymous SNV Y584Y 0.126 0.122 0.095 52 148 47 0.133 28 10 2 1 1 1.8 23192 chr5 154291409 154291409 C T rs1974777 GEMIN5 Nonsynonymous SNV R681Q 0.9 0.914 0.864 354 1057 351 0.908 254 475 159 109 159 22.8 23193 chr18 29477852 29477852 T C rs770773277 TRAPPC8 Nonsynonymous SNV N498S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 23194 chr5 137278682 137278682 T C rs33956817 FAM13B Nonsynonymous SNV M774V 0.061 0.044 0.058 16 72 17 0.041 17 4 0 0 1 5.695 23195 chr18 29488804 29488804 A G rs12326860 TRAPPC8 Synonymous SNV H345H 0.141 0.154 0.105 60 166 59 0.154 31 11 3 1 2 6.501 23196 chr5 154300940 154300940 A C rs348739 GEMIN5 Synonymous SNV T474T 0.897 0.904 0.864 354 1053 347 0.908 254 474 157 109 159 0.011 23197 chr18 29497573 29497573 A G rs6506948 TRAPPC8 Nonsynonymous SNV L137S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.42 23198 chr5 154306972 154306972 T C rs2258437 GEMIN5 Synonymous SNV L350L 0.9 0.914 0.864 354 1057 351 0.908 254 475 159 109 159 6.352 23199 chr16 82033810 82033810 G A rs11542462 SDR42E1 Stop gain Q30X 0.14 0.148 0.129 48 164 57 0.123 38 10 4 3 2 36 23200 chr16 72821625 72821625 C T rs201772357 ZFHX3 Nonsynonymous SNV G2603D 0.037 0.044 0.054 25 44 17 0.064 16 0 1 0 1 7.554 23201 chr18 29795076 29795076 T C rs173032 MEP1B Synonymous SNV S537S 0.555 0.51 0.622 189 651 196 0.485 183 258 72 52 64 7.387 23202 chr5 137465092 137465092 C G rs150966952 NME5 Nonsynonymous SNV M65I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 15.45 23203 chr5 154307070 154307070 G C rs35522740 GEMIN5 Nonsynonymous SNV R318G 0.062 0.063 0.031 15 73 24 0.038 9 1 1 0 0 23.9 23204 chr18 29795101 29795101 T C rs233223 MEP1B Nonsynonymous SNV S546P 0.695 0.628 0.728 244 816 241 0.626 214 328 88 76 89 11.38 23205 chr16 72821962 72821962 G C rs140577707 ZFHX3 Nonsynonymous SNV P2491A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.402 23206 chr5 154395158 154395158 G T rs6580126 KIF4B Nonsynonymous SNV R580L 0.746 0.771 0.738 294 876 296 0.754 217 329 114 83 113 6.225 23207 chr18 29797921 29797921 C T rs616114 MEP1B Nonsynonymous SNV P695L 0.372 0.435 0.432 170 437 167 0.436 127 79 36 21 32 6.164 23208 chr16 56660841 56660841 C T rs72818418 MT1E Synonymous SNV C48C 0.098 0.099 0.095 32 115 38 0.082 28 1 2 2 0 11.09 23209 chr5 154395458 154395458 G A rs17116710 KIF4B Nonsynonymous SNV R680H 0.148 0.159 0.146 67 174 61 0.172 43 15 7 2 5 24.2 23210 chr18 30093722 30093722 A C rs11081773 WBP11P1 0 0 0.473 0 0 0 0 139 0 0 30 0 9.349 23211 chr16 84256103 84256103 C T rs35649980 KCNG4 Nonsynonymous SNV R427H 0.089 0.063 0.092 41 104 24 0.105 27 4 0 0 0 28.1 23212 chr16 74990445 74990445 G A rs960450693 WDR59 Synonymous SNV R56R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.71 23213 chr18 30349691 30349691 C T rs17851892 KLHL14 Synonymous SNV P288P 0.275 0.253 0.306 104 323 97 0.267 90 37 11 13 11 14.37 23214 chr16 72831877 72831877 G A rs771779056 ZFHX3 Synonymous SNV S654S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.488 23215 chr16 614821 614821 A G rs1010761 PRR35 Synonymous SNV R410R 0.131 0.102 0.112 61 154 39 0.156 33 16 4 2 10 0.179 23216 chr5 137665323 137665323 G A rs3734166 CDC25C Nonsynonymous SNV R70C 0.405 0.367 0.378 172 476 141 0.441 111 97 25 22 43 23.2 23217 chr18 30350165 30350165 G A rs61737324 KLHL14 Synonymous SNV C130C 0.071 0.07 0.071 44 83 27 0.113 21 2 1 0 4 3.532 23218 chr18 30804756 30804756 C T rs466113 CCDC178 Nonsynonymous SNV D601N 0.998 1 0.99 389 1172 384 0.997 291 586 192 145 194 11.3 23219 chr16 84256422 84256422 C T rs4782905 KCNG4 Nonsynonymous SNV E321K 0.086 0.063 0.082 40 101 24 0.103 24 4 0 0 0 12.06 23220 chr5 154395682 154395682 G A rs41390849 KIF4B Nonsynonymous SNV V755I 0.112 0.115 0.116 50 131 44 0.128 34 13 0 1 2 16.47 23221 chr18 31320229 31320229 A G rs2282632 ASXL3 Nonsynonymous SNV N954S 0.467 0.497 0.507 189 548 191 0.485 149 127 47 39 40 1.539 23222 chr5 154396505 154396505 G A rs60928118 KIF4B Nonsynonymous SNV R1029H 0.142 0.159 0.143 62 167 61 0.159 42 15 7 3 4 23 23223 chr16 83999261 83999261 C A rs35132222 OSGIN1 Synonymous SNV L361L 0.107 0.096 0.122 40 126 37 0.103 36 4 2 0 1 8.612 23224 chr18 31324934 31324934 A G rs7232237 ASXL3 Nonsynonymous SNV M1708V 0.467 0.495 0.507 187 548 190 0.479 149 127 49 39 38 0.001 23225 chr16 84035446 84035446 C G rs2271298 NECAB2 Nonsynonymous SNV L335V 0.136 0.125 0.16 49 160 48 0.126 47 13 1 6 1 2.315 23226 chr5 155935708 155935708 G A rs45559835 SGCD Nonsynonymous SNV R96Q 0.066 0.104 0.065 25 77 40 0.064 19 2 2 0 0 Benign/Likely benign 33 23227 chr18 3164385 3164385 C T rs11659820 MYOM1 Synonymous SNV R464R 0.266 0.229 0.201 87 312 88 0.223 59 51 13 8 11 Benign 17.33 23228 chr18 3176040 3176040 C G rs8099021 MYOM1 Nonsynonymous SNV G341A 0.68 0.62 0.643 253 798 238 0.649 189 268 78 58 83 Benign 0.013 23229 chr5 156376703 156376703 A G rs6873053 TIMD4 Nonsynonymous SNV V240A 0.955 0.951 0.963 364 1121 365 0.933 283 535 174 136 170 0.003 23230 chr16 84179058 84179058 C G rs1024875120 DNAAF1 Nonsynonymous SNV P5A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.003 23231 chr16 67222999 67222999 G A rs150417999 EXOC3L1 Nonsynonymous SNV P44L 0.026 0.018 0.017 7 31 7 0.018 5 0 0 0 0 24.8 23232 chr18 3188857 3188857 A G rs2230166 MYOM1 Synonymous SNV S220S 0.074 0.078 0.065 29 87 30 0.074 19 3 1 1 1 Benign 0.12 23233 chr5 156479424 156479424 A C rs1553317 HAVCR1 Synonymous SNV T207T 0.854 0.823 0.878 326 1003 316 0.836 258 423 131 114 136 0.001 23234 chr5 138456815 138456815 T C rs3088052 SIL1 Synonymous SNV T51T 0.419 0.414 0.415 170 492 159 0.436 122 110 33 26 32 Benign 5.368 23235 chr16 84402275 84402275 G C rs62048787 ATP2C2 Synonymous SNV G18G 0.27 0.237 0.313 108 317 91 0.277 92 44 7 12 15 4.338 23236 chr16 737269 737269 C T rs17850290 WDR24 Synonymous SNV T269T 0.112 0.099 0.105 43 132 38 0.11 31 6 2 2 5 9.192 23237 chr18 3188873 3188873 G A rs2230165 MYOM1 Nonsynonymous SNV T215M 0.074 0.078 0.065 29 87 30 0.074 19 3 1 1 1 Benign 7.431 23238 chr5 156479426 156479426 T C rs12522248 HAVCR1 Nonsynonymous SNV T207A 0.325 0.333 0.323 128 381 128 0.328 95 64 23 11 19 0.005 23239 chr16 74499589 74499589 G A rs2303275 GLG1 Synonymous SNV C873C 0.136 0.138 0.105 64 160 53 0.164 31 11 3 2 7 10.08 23240 chr16 67229794 67229796 CAG - rs3830472 E2F4 S319del 0.067 0.076 0.099 37 79 29 0.095 29 0 0 0 0 23241 chr18 32470291 32470291 G A rs9944927 DTNA Nonsynonymous SNV E688K 0.254 0.247 0.265 111 298 95 0.285 78 35 8 5 15 Benign 19.09 23242 chr5 156479509 156479509 A G rs1553316 HAVCR1 Nonsynonymous SNV L179P 0.854 0.823 0.878 326 1003 316 0.836 258 423 131 114 136 0.1 23243 chr18 32917644 32917644 T C rs2032729 ZNF24 Nonsynonymous SNV N220S 0.848 0.828 0.837 321 996 318 0.823 246 426 132 103 132 0.207 23244 chr16 84449161 84449161 C T rs3743651 ATP2C2 Synonymous SNV I45I 0.094 0.086 0.109 41 110 33 0.105 32 4 0 2 3 19.73 23245 chr16 84456014 84456014 G T rs200348030 ATP2C2 Nonsynonymous SNV D64Y 0.008 0.005 0 6 9 2 0.015 0 0 0 0 1 29 23246 chr16 67235477 67235477 G A rs183146864 ELMO3 Nonsynonymous SNV V284I 0.02 0.013 0.017 2 24 5 0.005 5 0 0 0 0 22.8 23247 chr18 334742 334742 C T rs2305027 COLEC12 Nonsynonymous SNV G606S 0.52 0.529 0.466 218 610 203 0.559 137 175 59 41 64 16.82 23248 chr5 156479558 156479572 TTGGAACAGTCGTCA - rs141023871 HAVCR1 M158_P162del 0.562 0.552 0.541 194 660 212 0.497 159 194 61 35 50 23249 chr5 138732579 138732579 C T rs10900862 SPATA24 Synonymous SNV E176E 0.567 0.581 0.592 247 666 223 0.633 174 183 66 54 75 13.81 23250 chr5 156482459 156482459 G T rs1809941 HAVCR1 Synonymous SNV S44S 0.849 0.823 0.878 327 997 316 0.838 258 417 131 114 137 3.08 23251 chr18 334758 334758 T C rs2305026 COLEC12 Synonymous SNV P600P 0.866 0.854 0.82 342 1017 328 0.877 241 448 145 110 150 0.018 23252 chr16 84476200 84476200 A T rs247897 ATP2C2 Nonsynonymous SNV M315L 0.332 0.367 0.34 123 390 141 0.315 100 73 26 14 20 12.35 23253 chr16 67329169 67329172 AATT - KCTD19 E462Vfs*52 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23254 chr5 156531736 156531736 C A rs1036199 HAVCR2 Nonsynonymous SNV R140L 0.838 0.799 0.837 321 984 307 0.823 246 404 126 104 131 10.42 23255 chr16 67410706 67410706 C T rs150853816 LRRC36 Synonymous SNV D458D 0.02 0.013 0.017 2 24 5 0.005 5 0 0 0 0 7.115 23256 chr5 138773090 138773090 A G rs10900864 DNAJC18 Synonymous SNV Y66Y 0.584 0.599 0.622 253 686 230 0.649 183 197 71 60 79 0.091 23257 chr18 334994 334994 A G rs2305025 COLEC12 Nonsynonymous SNV S522P 0.615 0.62 0.687 252 722 238 0.646 202 241 77 74 86 8.943 23258 chr5 156721863 156721863 - C rs397712438 CYFIP2 Frameshift insertion Q95Pfs*15 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 23259 chr5 156753257 156753257 C T rs11551374 CYFIP2 Synonymous SNV Y661Y 0.106 0.073 0.126 51 125 28 0.131 37 4 1 3 5 13.95 23260 chr18 33607031 33607031 T C rs148598420 RPRD1A Synonymous SNV E207E 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 4.127 23261 chr16 67696418 67696418 G A rs140546833 PARD6A Synonymous SNV P302P 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 2.094 23262 chr18 33647254 33647254 A C rs1789517 RPRD1A Synonymous SNV R38R 0.88 0.872 0.898 335 1033 335 0.859 264 458 145 118 143 4.41 23263 chr5 156898690 156898690 A G rs6860507 NIPAL4 Nonsynonymous SNV R194G 0.536 0.503 0.466 194 629 193 0.497 137 163 49 30 54 Benign 12.15 23264 chr18 33706614 33706614 C G rs1789528 SLC39A6 Nonsynonymous SNV E119D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.005 23265 chr16 84493081 84493081 G A rs437299 ATP2C2-AS1 0.217 0.219 0.187 85 255 84 0.218 55 30 12 5 11 5.164 23266 chr5 156899869 156899869 T C rs4704870 NIPAL4 Synonymous SNV V415V 0.993 0.984 0.976 384 1166 378 0.985 287 579 186 140 189 Benign 0.13 23267 chr16 84213652 84213652 G A rs4150168 TAF1C Synonymous SNV P201P 0.082 0.063 0.085 31 96 24 0.079 25 3 1 0 1 6.754 23268 chr18 33779821 33779821 C A rs646424 MOCOS Synonymous SNV R159R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.82 23269 chr18 33779855 33779855 C T rs623053 MOCOS Nonsynonymous SNV T170I 0.944 0.943 0.935 364 1108 362 0.933 275 522 170 128 170 0.054 23270 chr5 156899925 156899925 C T rs61743233 NIPAL4 Nonsynonymous SNV S434L 0.055 0.076 0.102 21 64 29 0.054 30 1 2 0 0 Benign 14.54 23271 chr5 156936364 156936364 T C rs1422795 ADAM19 Nonsynonymous SNV S284G 0.315 0.331 0.412 131 370 127 0.336 121 63 18 26 22 14.33 23272 chr16 66785198 66785198 G A rs145973586 DYNC1LI2 Synonymous SNV S53S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.36 23273 chr18 33779896 33779896 A G rs540967 MOCOS Nonsynonymous SNV S184G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 23274 chr16 84224967 84224967 G A rs8044695 ADAD2 Nonsynonymous SNV G44E 0.538 0.531 0.52 220 632 204 0.564 153 192 65 45 63 0.002 23275 chr16 75269477 75269477 A C rs61729595 BCAR1 Synonymous SNV S230S 0.069 0.047 0.078 28 81 18 0.072 23 2 1 3 0 0.003 23276 chr16 57295926 57295926 C T rs77916821 PLLP Synonymous SNV P64P 0.025 0.029 0.027 20 29 11 0.051 8 1 0 0 0 10.28 23277 chr5 157102159 157102159 G A rs10051838 C5orf52 Nonsynonymous SNV R91Q 0.13 0.112 0.139 64 153 43 0.164 41 9 3 3 9 24.8 23278 chr18 33780020 33780020 A G rs623558 MOCOS Nonsynonymous SNV H225R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 23279 chr16 84514304 84514304 C T rs770312745 MEAK7 Nonsynonymous SNV G363E 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 27.4 23280 chr16 84228199 84228199 G T rs11864937 LOC654780 0.278 0.276 0.248 121 326 106 0.31 73 42 11 8 18 3.144 23281 chr18 33785093 33785093 G A rs678560 MOCOS Nonsynonymous SNV V358M 0.942 0.943 0.929 364 1106 362 0.933 273 521 170 126 170 0.064 23282 chr5 157102185 157102185 A G rs6884959 C5orf52 Nonsynonymous SNV T100A 0.41 0.349 0.48 173 481 134 0.444 141 96 27 30 42 2.185 23283 chr16 67235672 67235672 C T rs33948247 ELMO3 Nonsynonymous SNV R316C 0.034 0.042 0.058 13 40 16 0.033 17 1 1 0 0 35 23284 chr16 57416472 57416472 C T rs137886321 CX3CL1 Nonsynonymous SNV P156L 0.014 0.013 0.014 7 16 5 0.018 4 0 0 0 0 Likely benign 8.96 23285 chr18 33785185 33785185 A G rs667667 MOCOS Synonymous SNV P388P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.071 23286 chr5 157164962 157164962 T C rs2270812 THG1L Nonsynonymous SNV L100P 0.598 0.565 0.677 245 702 217 0.628 199 215 67 65 76 14.51 23287 chr16 77910349 77910349 C T rs61737699 VAT1L Synonymous SNV L269L 0.03 0.031 0.024 20 35 12 0.051 7 0 0 0 0 15.48 23288 chr18 34232543 34232543 G A rs62083981 FHOD3 Nonsynonymous SNV A433T 0.031 0.036 0.01 9 36 14 0.023 3 1 1 0 0 1.795 23289 chr16 84228305 84228305 C G rs11864916 LOC654780 0.237 0.24 0.231 114 278 92 0.292 68 42 11 7 18 2.088 23290 chr16 67320920 67320920 C T rs785029 PLEKHG4 Synonymous SNV L900L 0.047 0.057 0.068 16 55 22 0.041 20 3 1 0 0 11.43 23291 chr18 34232610 34232610 C T rs2848901 FHOD3 Nonsynonymous SNV S455L 0.336 0.315 0.344 150 394 121 0.385 101 64 21 20 26 12.57 23292 chr16 79245686 79245686 C A rs117065412 WWOX Nonsynonymous SNV S300Y 0.014 0.01 0.027 3 17 4 0.008 8 0 0 0 0 Benign 16.09 23293 chr5 157170986 157170986 G A rs2279771 LSM11 Synonymous SNV R76R 0.198 0.169 0.197 84 232 65 0.215 58 21 7 6 10 2.36 23294 chr18 34232657 34232657 G A rs72895597 FHOD3 Nonsynonymous SNV G471R 0.126 0.128 0.092 39 148 49 0.1 27 6 2 0 1 1.816 23295 chr16 84228770 84228770 G C rs11149631 ADAD2 Nonsynonymous SNV G235R 0.275 0.276 0.245 121 323 106 0.31 72 42 11 7 18 23.4 23296 chr18 34273279 34273279 C G rs61735993 FHOD3 Nonsynonymous SNV A518G 0.146 0.138 0.119 37 171 53 0.095 35 5 2 2 0 12.36 23297 chr5 158204425 158204425 A G rs1368298 EBF1 Synonymous SNV Y313Y 0.44 0.453 0.507 172 517 174 0.441 149 124 41 39 42 0.102 23298 chr16 84228873 84228873 C T rs11865115 ADAD2 Synonymous SNV G317G 0.148 0.143 0.136 66 174 55 0.169 40 9 0 2 5 2.051 23299 chr5 158601095 158601095 G A rs2060212 RNF145 Synonymous SNV F261F 0.037 0.042 0.024 11 44 16 0.028 7 1 0 0 0 12.99 23300 chr16 57550331 57550331 C T rs74901418 CCDC102A Synonymous SNV Q431Q 0.015 0.008 0 2 18 3 0.005 0 0 0 0 0 12.33 23301 chr18 34310668 34310668 C T rs3744903 FHOD3 Synonymous SNV N967N 0.349 0.354 0.316 152 410 136 0.39 93 65 27 14 27 13.5 23302 chr5 159659273 159659273 C T rs1130435 FABP6 Nonsynonymous SNV T79M 0.363 0.336 0.388 126 426 129 0.323 114 70 20 22 25 23.3 23303 chr18 34324091 34324091 G A rs2303510 FHOD3 Nonsynonymous SNV V1134I 0.324 0.341 0.32 148 380 131 0.379 94 49 22 14 24 22.6 23304 chr16 84230500 84230500 A C rs2303243 ADAD2 Synonymous SNV R558R 0.279 0.276 0.173 123 327 106 0.315 51 43 11 7 19 9.671 23305 chr16 84793028 84793028 G A rs61760199 USP10 Synonymous SNV L448L 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 12.85 23306 chr5 159835658 159835658 A G rs2961944 SLU7 Nonsynonymous SNV M244T 0.68 0.659 0.629 255 798 253 0.654 185 288 93 64 84 0.268 23307 chr18 34398914 34398914 C T rs1045781 TPGS2 Synonymous SNV E36E 0.271 0.258 0.272 108 318 99 0.277 80 32 13 13 16 13.85 23308 chr16 681325 681325 A G rs142058878 WFIKKN1 Synonymous SNV P24P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.165 23309 chr18 3452223 3452223 T - rs11571510 TGIF1 P83Lfs*51 0.458 0.464 0.415 167 538 178 0.428 122 123 44 27 35 23310 chr18 34647322 34647322 G T rs72890602 KIAA1328 Nonsynonymous SNV G241V 0.037 0.049 0.02 11 44 19 0.028 6 2 1 0 1 0.46 23311 chr5 160097496 160097496 A G rs958912 ATP10B Nonsynonymous SNV C189R 0.844 0.826 0.867 327 991 317 0.838 255 417 130 110 139 5.431 23312 chr16 84879464 84879464 A G rs12051468 CRISPLD2 Nonsynonymous SNV S105G 0.429 0.443 0.425 170 504 170 0.436 125 103 34 24 41 0.002 23313 chr18 34647323 34647323 T G rs3747896 KIAA1328 Synonymous SNV G241G 0.192 0.177 0.156 55 225 68 0.141 46 19 7 6 2 0.02 23314 chr18 34664093 34664093 A G rs323295 KIAA1328 Nonsynonymous SNV K305R 0.202 0.214 0.265 69 237 82 0.177 78 69 28 14 19 18.03 23315 chr5 160097632 160097632 G A rs958911 ATP10B Synonymous SNV R143R 0.895 0.891 0.891 347 1051 342 0.89 262 473 152 117 153 10.77 23316 chr5 160721319 160721319 G A rs2229944 GABRB2 Synonymous SNV A398A 0.109 0.115 0.109 45 128 44 0.115 32 7 1 0 2 Benign 6.698 23317 chr18 34850846 34850846 G A rs1443638 CELF4 Synonymous SNV A327A 0.389 0.398 0.33 149 457 153 0.382 97 90 29 19 32 14.53 23318 chr16 85009964 85009964 C T rs753000315 ZDHHC7 Synonymous SNV P304P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.06 23319 chr5 161113004 161113004 G A rs13188991 GABRA6 Synonymous SNV S3S 0.202 0.208 0.167 82 237 80 0.21 49 22 7 5 8 7.647 23320 chr18 3534282 3534282 G A rs34171157 DLGAP1 Synonymous SNV L495L 0.016 0.008 0.01 10 19 3 0.026 3 0 0 1 0 9.008 23321 chr5 161119071 161119071 G T rs12522663 GABRA6 Synonymous SNV A317A 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 11.3 23322 chr18 3534322 3534322 G A rs35715722 DLGAP1 Synonymous SNV A481A 0.016 0.008 0.01 10 19 3 0.026 3 0 0 1 0 14.95 23323 chr16 85100976 85100976 G A rs4783121 KIAA0513 Nonsynonymous SNV R100H 0.091 0.083 0.061 32 107 32 0.082 18 5 2 2 1 24.6 23324 chr5 161119125 161119125 C G rs13184586 GABRA6 Synonymous SNV A335A 0.491 0.505 0.527 211 576 194 0.541 155 134 51 36 55 8.12 23325 chr18 357443 357443 C G rs34395012 COLEC12 Nonsynonymous SNV L46F 0.033 0.021 0.02 9 39 8 0.023 6 1 0 0 0 23.4 23326 chr16 67969531 67969531 A G rs14178 PSMB10 Synonymous SNV G151G 0.082 0.076 0.109 39 96 29 0.1 32 4 0 0 3 0.319 23327 chr5 161128761 161128761 C G rs4277944 GABRA6 Synonymous SNV V448V 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 0.88 23328 chr18 3581966 3581966 G A rs56017170 DLGAP1 Synonymous SNV T322T 0.256 0.271 0.259 112 301 104 0.287 76 42 16 11 17 9.662 23329 chr5 161529571 161529571 A G rs211035 GABRG2 Nonsynonymous SNV I215V 0.697 0.693 0.704 298 818 266 0.764 207 358 113 90 130 Benign 0.354 23330 chr18 39535298 39535298 C T PIK3C3 Synonymous SNV D14D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.07 23331 chr18 40323497 40323497 G T rs1804730 RIT2 Synonymous SNV L205L 0.473 0.422 0.452 163 555 162 0.418 133 132 33 28 30 0.552 23332 chr16 85711860 85711860 C T rs1053328 GINS2 Synonymous SNV T172T 0.323 0.305 0.272 140 379 117 0.359 80 68 20 15 23 16.76 23333 chr16 67973953 67973953 G A rs5923 LCAT Synonymous SNV L393L 0.073 0.06 0.099 34 86 23 0.087 29 2 0 0 3 Benign 7.804 23334 chr16 68721533 68721533 G C rs1126933 CDH3 Nonsynonymous SNV Q508H 0.393 0.385 0.398 146 461 148 0.374 117 81 30 28 28 Benign 15.72 23335 chr16 774692 774692 A G rs2071950 CCDC78 Nonsynonymous SNV W252R 0.402 0.346 0.381 134 472 133 0.344 112 100 19 25 24 Benign 0.002 23336 chr5 162890953 162890953 G A rs380101 HMMR Synonymous SNV Q46Q 0.999 1 0.976 389 1173 384 0.997 287 586 192 143 194 0.33 23337 chr18 42456653 42456653 G A rs663651 SETBP1 Nonsynonymous SNV A222T 0.51 0.49 0.537 210 599 188 0.538 158 149 42 45 54 Likely benign 2.674 23338 chr16 67980969 67980969 G C rs11860125 SLC12A4 Synonymous SNV L706L 0.082 0.076 0.092 39 96 29 0.1 27 4 0 0 3 6.275 23339 chr5 167645888 167645888 T C rs1363560 TENM2 Synonymous SNV N1425N 0.207 0.193 0.218 83 243 74 0.213 64 23 5 8 10 0.145 23340 chr16 85945231 85945231 C T rs8052064 IRF8 Synonymous SNV C148C 0.096 0.089 0.102 34 113 34 0.087 30 6 1 2 4 10.81 23341 chr18 42456670 42456670 - TCTT rs3085861 SETBP1 Frameshift insertion T228Sfs*8 0.51 0.49 0.541 210 599 188 0.538 159 149 42 46 54 23342 chr5 167674370 167674370 C T rs3733988 TENM2 Synonymous SNV I1903I 0.514 0.56 0.548 179 603 215 0.459 161 148 69 42 45 9.377 23343 chr16 67984589 67984589 A G rs11542821 SLC12A4 Synonymous SNV G476G 0.082 0.076 0.109 39 96 29 0.1 32 4 0 0 3 8.635 23344 chr18 42532606 42532606 G A rs3744825 SETBP1 Nonsynonymous SNV V1101I 0.135 0.12 0.136 51 158 46 0.131 40 9 3 1 5 Benign 0.222 23345 chr16 85948098 85948098 G A rs17444416 IRF8 Synonymous SNV G201G 0.081 0.104 0.061 43 95 40 0.11 18 2 1 0 1 7.693 23346 chr5 167689296 167689296 C T rs17632540 TENM2 Synonymous SNV N2363N 0.271 0.224 0.235 81 318 86 0.208 69 45 6 6 11 11.75 23347 chr16 68021468 68021468 G C rs1133090 DPEP2 Nonsynonymous SNV H310D 0.082 0.065 0.095 32 96 25 0.082 28 2 0 0 3 0.001 23348 chr16 778024 778024 T C rs1406814 HAGHL Synonymous SNV H55H 0.188 0.12 0.17 72 221 46 0.185 50 32 3 8 7 2.666 23349 chr18 42532693 42532693 C A rs1064204 SETBP1 Nonsynonymous SNV P1130T 0.128 0.154 0.136 56 150 59 0.144 40 10 3 1 3 Benign 11.2 23350 chr5 167835539 167835539 C T rs17551608 WWC1 Nonsynonymous SNV R250C 0.148 0.156 0.129 54 174 60 0.138 38 14 6 2 5 23.6 23351 chr16 778820 778820 G A rs12448432 HAGHL Synonymous SNV T175T 0.21 0.148 0.228 79 246 57 0.203 67 32 2 9 8 10.42 23352 chr16 863356 863372 GGACGCCGGACCGACAC - rs138733834 PRR25 T236Pfs*45 0.106 0.102 0.088 36 124 39 0.092 26 6 1 2 2 23353 chr18 42533130 42533130 A G rs8096662 SETBP1 Synonymous SNV S1275S 0.909 0.93 0.912 349 1067 357 0.895 268 488 166 124 157 Benign 1.178 23354 chr5 167850748 167850748 A G rs12054944 WWC1 Synonymous SNV S495S 0.358 0.339 0.398 144 420 130 0.369 117 78 21 25 24 4.726 23355 chr18 43204739 43204739 C T rs34461862 SLC14A2 Nonsynonymous SNV T37I 0.074 0.06 0.044 25 87 23 0.064 13 8 3 1 0 23.1 23356 chr16 781633 781633 G A rs3829492 CIAO3 Synonymous SNV H322H 0.192 0.138 0.207 75 225 53 0.192 61 23 3 9 6 12.01 23357 chr5 167891830 167891830 T C rs3203960 WWC1 Synonymous SNV L1011L 0.514 0.531 0.493 214 604 204 0.549 145 169 65 35 59 6.552 23358 chr18 43206985 43206985 A G rs1484873 SLC14A2 Nonsynonymous SNV I132V 0.964 0.974 0.963 382 1132 374 0.979 283 546 182 136 187 9.99 23359 chr5 168098463 168098463 A G rs292486 SLIT3 Synonymous SNV S1296S 0.977 0.974 0.952 381 1147 374 0.977 280 560 183 133 186 0.074 23360 chr16 68072004 68072004 A G rs11555012 DUS2 Synonymous SNV P26P 0.062 0.057 0.082 24 73 22 0.062 24 1 0 0 3 8.398 23361 chr5 168212951 168212951 A G rs891921 SLIT3 Nonsynonymous SNV V371A 0.92 0.919 0.925 362 1080 353 0.928 272 500 162 126 169 22.6 23362 chr16 57954448 57954448 A G rs2161703 CNGB1 Synonymous SNV D542D 0.018 0.049 0.037 20 21 19 0.051 11 0 1 0 1 Benign 0.11 23363 chr18 43247001 43247001 C G rs2156609 SLC14A2 Synonymous SNV V553V 0.792 0.802 0.82 320 930 308 0.821 241 362 123 100 127 3.234 23364 chr16 84529382 84529382 G C rs8055536 MEAK7 Nonsynonymous SNV H97Q 0.043 0.042 0.054 21 51 16 0.054 16 2 2 0 0 10.88 23365 chr16 784765 784765 C T rs9928077 CIAO3 Synonymous SNV A182A 0.211 0.146 0.228 78 248 56 0.2 67 35 3 9 7 14.41 23366 chr18 43262359 43262359 G A rs3745009 SLC14A2 Nonsynonymous SNV A880T 0.419 0.464 0.415 172 492 178 0.441 122 101 41 28 40 23.1 23367 chr5 169021610 169021610 C T rs4493692 SPDL1 Synonymous SNV L272L 0.667 0.716 0.66 275 783 275 0.705 194 260 95 66 101 10.83 23368 chr16 79633075 79633075 G A MAF Nonsynonymous SNV A242V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.28 23369 chr16 86585743 86585743 G C rs34005514 MTHFSD Nonsynonymous SNV L45V 0.05 0.047 0.058 17 59 18 0.044 17 2 0 0 0 10.56 23370 chr5 169028481 169028481 T C rs3797713 SPDL1 Nonsynonymous SNV Y508H 0.667 0.716 0.66 275 783 275 0.705 194 260 95 66 101 0.001 23371 chr18 43417782 43417782 C A rs113867469 SIGLEC15 Synonymous SNV R139R 0.079 0.081 0.068 29 93 31 0.074 20 3 0 2 0 18.65 23372 chr18 43497710 43497710 A G rs3744998 EPG5 Nonsynonymous SNV V1058A 0.557 0.521 0.5 212 654 200 0.544 147 190 50 37 53 Benign 25.7 23373 chr16 68390697 68390697 C T rs61733486 PRMT7 Synonymous SNV P585P 0.077 0.073 0.082 38 90 28 0.097 24 1 0 1 4 13.9 23374 chr5 140262492 140262492 A T rs11744560 PCDHA13 Synonymous SNV T213T 0.137 0.146 0.129 64 161 56 0.164 38 15 4 1 3 0.033 23375 chr5 169031150 169031150 T C rs3777084 SPDL1 Nonsynonymous SNV L586S 0.664 0.714 0.656 275 780 274 0.705 193 260 95 66 101 2.345 23376 chr16 68405368 68405368 C T rs374711863 SMPD3 Synonymous SNV P239P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.749 23377 chr18 43568717 43568717 T C rs2276199 PSTPIP2 Nonsynonymous SNV N322D 0.1 0.115 0.143 30 117 44 0.077 42 6 3 1 1 3.955 23378 chr5 140263290 140263290 T G rs251380 PCDHA13 Synonymous SNV A479A 0.64 0.609 0.656 253 751 234 0.649 193 240 75 63 81 0.043 23379 chr16 84906098 84906098 C G rs721005 CRISPLD2 Nonsynonymous SNV T322S 0.397 0.362 0.405 157 466 139 0.403 119 87 28 28 34 14.03 23380 chr5 169129422 169129422 A G rs2306559 DOCK2 Synonymous SNV K458K 0.443 0.466 0.395 187 520 179 0.479 116 114 43 24 46 1.891 23381 chr5 140306903 140306903 C T rs149532133 PCDHAC1 Synonymous SNV R142R 0.021 0.021 0.017 10 25 8 0.026 5 0 0 0 0 16.56 23382 chr18 43833701 43833701 - CTG rs34068795 C18orf25 S252_G253insA 0.778 0.784 0.711 300 913 301 0.769 209 358 116 74 112 23383 chr5 169267784 169267784 G A rs261623 DOCK2 Synonymous SNV Q909Q 0.341 0.375 0.388 158 400 144 0.405 114 67 29 20 34 6.985 23384 chr18 44057673 44057673 C T rs74316327 LOXHD1 Nonsynonymous SNV R434H 0.118 0.099 0.099 44 138 38 0.113 29 8 3 1 0 Benign 23.8 23385 chr16 815202 815202 C T rs8062940 MSLN Synonymous SNV A201A 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 Benign 11.41 23386 chr5 169310213 169310213 A C rs17646221 INSYN2B Nonsynonymous SNV S230R 0.493 0.464 0.51 201 579 178 0.515 150 141 42 35 56 4.854 23387 chr16 597408 597408 G C rs572003179 CAPN15 Synonymous SNV P190P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.04 23388 chr16 58314433 58314433 T C rs2241414 PRSS54 Nonsynonymous SNV T196A 0.085 0.094 0.102 38 100 36 0.097 30 8 3 0 1 0.001 23389 chr18 44063598 44063598 G A rs1377016 LOXHD1 Nonsynonymous SNV A337V 0.291 0.268 0.248 113 342 103 0.29 73 48 14 11 12 Benign 13.3 23390 chr16 816464 816464 A G rs73491255 MSLN Nonsynonymous SNV N402D 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 1.471 23391 chr16 85689988 85689988 C T rs369286648 GSE1 Synonymous SNV R239R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 13.66 23392 chr5 169504743 169504743 T C rs1045168 DOCK2 Synonymous SNV R1632R 0.399 0.37 0.405 152 469 142 0.39 119 98 27 25 24 7.401 23393 chr16 87445270 87445270 T C rs3748399 ZCCHC14 Synonymous SNV T1019T 0.1 0.089 0.136 27 117 34 0.069 40 9 2 4 0 0.002 23394 chr16 70590898 70590898 C T rs116924445 SF3B3 Nonsynonymous SNV S659L 0.02 0.01 0.007 5 24 4 0.013 2 1 0 0 0 24.7 23395 chr16 613610 613610 C T rs45551533 PRR35 Nonsynonymous SNV R106W 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 20.8 23396 chr16 58314598 58314598 C T rs1052276 PRSS54 Nonsynonymous SNV V141I 0.085 0.094 0.102 38 100 36 0.097 30 8 3 0 1 0.001 23397 chr5 169535522 169535522 T C rs10063424 FOXI1 Synonymous SNV Y348Y 0.916 0.917 0.908 356 1075 352 0.913 267 490 162 122 163 Benign 0.002 23398 chr18 44104437 44104437 T C rs12606417 LOXHD1 Nonsynonymous SNV E416G 0.12 0.115 0.116 44 141 44 0.113 34 7 4 0 1 Conflicting interpretations of pathogenicity 18.81 23399 chr16 87493737 87493737 T C rs11648852 ZCCHC14 Nonsynonymous SNV I191V 0.104 0.094 0.109 23 122 36 0.059 32 5 2 1 1 0.001 23400 chr5 169661994 169661994 G C rs957998 C5orf58 Nonsynonymous SNV R5P 0.53 0.521 0.282 207 622 200 0.531 83 157 56 32 51 7.366 23401 chr18 44126909 44126909 T C rs1893566 LOXHD1 Nonsynonymous SNV R44G 0.791 0.807 0.837 304 929 310 0.779 246 364 124 104 119 Benign 7.056 23402 chr16 87637893 87637893 - CTGCTG JPH3 A157_V158insAA 0.33 0.339 0.245 142 387 130 0.364 72 59 31 11 25 23403 chr16 81916912 81916912 A G rs11548656 PLCG2 Nonsynonymous SNV H244R 0.046 0.036 0.048 19 54 14 0.049 14 1 0 0 0 Benign 16.45 23404 chr5 170238985 170238985 T C rs61733087 GABRP Nonsynonymous SNV V349A 0.012 0.005 0.007 1 14 2 0.003 2 0 0 0 0 22.5 23405 chr5 140347398 140347398 C T rs12153295 PCDHAC2 Synonymous SNV C349C 0.131 0.156 0.129 59 154 60 0.151 38 14 4 2 3 6.46 23406 chr18 44149474 44149474 G A rs2086005 LOXHD1 Synonymous SNV N725N 0.135 0.143 0.129 53 158 55 0.136 38 6 6 1 2 Benign/Likely benign 8.673 23407 chr5 170345753 170345753 C T rs760844961 RANBP17 Stop gain R331X 0 0 0 0 0 0 0 0 0 0 0 0 41 23408 chr16 81927314 81927314 G A rs200506549 PLCG2 Synonymous SNV T329T 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 Benign 13.64 23409 chr16 81208515 81208515 G A rs12596941 PKD1L2 Nonsynonymous SNV A178V 0.116 0.109 0.139 57 136 42 0.146 41 6 3 4 3 14.46 23410 chr18 44181227 44181227 C T rs10163657 LOXHD1 Nonsynonymous SNV V363I 0.089 0.083 0.071 28 105 32 0.072 21 4 0 1 0 Benign 19.17 23411 chr16 81929485 81929485 T C rs138637229 PLCG2 Synonymous SNV F382F 0.009 0.013 0.014 5 11 5 0.013 4 0 0 0 0 Benign 5.892 23412 chr5 171533629 171533629 A G rs2306963 STK10 Synonymous SNV S261S 0.742 0.721 0.752 260 871 277 0.667 221 321 100 82 88 0.133 23413 chr16 8722629 8722629 G C rs2270286 METTL22 Nonsynonymous SNV W59S 0.179 0.203 0.177 59 210 78 0.151 52 19 12 4 4 6.292 23414 chr5 171533656 171533656 C T rs2306962 STK10 Synonymous SNV S252S 0.727 0.706 0.741 254 854 271 0.651 218 313 96 79 84 10.36 23415 chr18 44585955 44585955 G A rs7233515 KATNAL2 Nonsynonymous SNV S49N 0.417 0.456 0.476 183 489 175 0.469 140 111 38 29 40 Benign 0.014 23416 chr5 171849471 171849471 G A rs17074773 SH3PXD2B Synonymous SNV S35S 0.244 0.263 0.306 88 287 101 0.226 90 29 14 12 11 Benign 9.015 23417 chr18 44610718 44610718 T C rs16954999 KATNAL2 Synonymous SNV F265F 0.554 0.5 0.497 198 650 192 0.508 146 187 44 31 47 2.753 23418 chr16 87344867 87344867 G A rs74038425 C16orf95 Synonymous SNV T122T 0.09 0.133 0.116 22 106 51 0.056 34 5 9 2 1 4.302 23419 chr5 172196711 172196711 G T rs2431663 DUSP1 Synonymous SNV I200I 0.956 0.958 0.946 370 1122 368 0.949 278 538 177 132 176 6.738 23420 chr18 45555829 45555829 T C rs7231151 ZBTB7C Synonymous SNV T554T 0.22 0.227 0.259 94 258 87 0.241 76 33 4 15 8 0.211 23421 chr18 45566276 45566276 G A rs45501996 ZBTB7C Synonymous SNV F401F 0.147 0.146 0.167 65 172 56 0.167 49 18 1 8 5 6.45 23422 chr5 173416365 173416365 C A rs61730190 C5orf47 Synonymous SNV G33G 0.162 0.135 0.15 69 190 52 0.177 44 18 2 4 8 12.96 23423 chr16 82104609 82104609 C G HSD17B2 Nonsynonymous SNV L181V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.37 23424 chr18 46190916 46190916 G A CTIF Nonsynonymous SNV R142H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 23425 chr5 140502433 140502433 G C rs149340599 PCDHB4 Nonsynonymous SNV D285H 0.015 0.016 0.017 8 18 6 0.021 5 0 0 0 0 Benign 23.1 23426 chr5 173534424 173534424 G A rs141991920 NSG2 Synonymous SNV Q144Q 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 7.184 23427 chr5 174868840 174868840 T C rs155417 DRD1 Synonymous SNV S421S 0.968 0.982 0.98 370 1137 377 0.949 288 550 185 141 176 0.003 23428 chr18 46284587 46284587 T C rs1038308 CTIF Synonymous SNV L294L 0.845 0.813 0.82 307 992 312 0.787 241 420 126 98 123 0.002 23429 chr18 46343666 46343666 C T rs3764481 CTIF Synonymous SNV C482C 0.124 0.107 0.082 55 145 41 0.141 24 9 4 1 3 16.65 23430 chr5 175772208 175772208 C T rs17622467 SIMC1 Synonymous SNV I254I 0.151 0.13 0.139 46 177 50 0.118 41 14 5 7 3 12.73 23431 chr18 46576058 46576058 T C rs12456845 MIR4744 0 0 0.082 0 0 0 0 24 0 0 1 0 3.656 23432 chr5 175793532 175793532 C T rs2303666 ARL10 Synonymous SNV G111G 0.147 0.128 0.143 45 172 49 0.115 42 13 5 7 3 14.24 23433 chr18 47093864 47093864 C T rs2000813 LIPG Nonsynonymous SNV T111I 0.401 0.409 0.306 143 471 157 0.367 90 95 28 12 26 9.059 23434 chr5 175811094 175811094 - GT rs397961096 NOP16, NOP16 Frameshift insertion R196Hfs*38 0.857 0.833 0.786 335 1006 320 0.859 231 433 132 115 143 23435 chr16 701656 701656 C T rs11642546 WDR90 Nonsynonymous SNV P250L 0.191 0.161 0.235 72 224 62 0.185 69 25 4 12 5 0.152 23436 chr16 82673041 82673041 C T rs550740563 CDH13 Nonsynonymous SNV R53C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.16 23437 chr5 175998246 175998246 T C rs17078320 CDHR2 Synonymous SNV D116D 0.193 0.258 0.173 82 226 99 0.21 51 24 14 3 7 0.007 23438 chr18 47376103 47376103 C G rs490648 SNHG22 0.594 0.565 0.534 221 697 217 0.567 157 202 54 43 63 4.932 23439 chr18 47376128 47376128 A G rs490697 SNHG22 0.897 0.898 0.854 348 1053 345 0.892 251 474 154 106 154 2.659 23440 chr16 88495705 88495705 G A rs148616993 ZNF469 Synonymous SNV S609S 0.026 0.013 0.003 7 30 5 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.486 23441 chr18 47376162 47376162 G A rs17713847 SNHG22 0.172 0.174 0.143 52 202 67 0.133 42 24 4 1 6 10.44 23442 chr5 176002144 176002144 A C rs4242200 CDHR2 Synonymous SNV I185I 0.926 0.935 0.901 356 1087 359 0.913 265 507 168 120 162 0.006 23443 chr18 47405425 47405425 - GAG rs397841722 MYO5B L1055_M1056insL 0.244 0.286 0.289 115 287 110 0.295 85 34 13 7 13 23444 chr16 70190291 70190291 A C LOC400541 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.728 23445 chr5 176004476 176004476 T C rs11134982 CDHR2 Nonsynonymous SNV V424A 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 0.002 23446 chr18 47563299 47563299 T C rs1815930 MYO5B Nonsynonymous SNV T126A 1 1 0.986 389 1174 384 0.997 290 587 192 143 194 Benign 10.65 23447 chr16 67300034 67300034 G C SLC9A5 Nonsynonymous SNV E607D 0.008 0 0 0 9 0 0 0 0 0 0 0 0.048 23448 chr5 176004680 176004680 A C rs34767982 CDHR2 Nonsynonymous SNV M465L 0.04 0.023 0.037 14 47 9 0.036 11 2 1 0 0 1.09 23449 chr16 65016165 65016165 C G rs76181686 CDH11 Nonsynonymous SNV V221L 0.006 0.016 0.01 4 7 6 0.01 3 0 0 0 0 24.9 23450 chr18 47793973 47793973 G A rs34500680 MBD1 Synonymous SNV S375S 0.056 0.06 0.044 18 66 23 0.046 13 3 0 0 0 4.792 23451 chr16 87451273 87451273 G T rs56283442 ZCCHC14 Synonymous SNV S392S 0.035 0.023 0.037 12 41 9 0.031 11 2 0 1 0 3.904 23452 chr16 67320210 67320210 A C rs373253638 PLEKHG4 Nonsynonymous SNV K745Q 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 26.7 23453 chr16 88497394 88497394 T C rs111557381 ZNF469 Synonymous SNV R1172R 0.049 0.039 0.058 15 58 15 0.038 17 0 0 1 0 Benign/Likely benign 1.023 23454 chr16 70358495 70358495 A G rs61757207 DDX19B Nonsynonymous SNV N24D 0.017 0.008 0.01 3 20 3 0.008 3 0 0 0 0 28 23455 chr18 47801800 47801800 G A rs140690 MBD1 Synonymous SNV R269R 0.357 0.318 0.31 131 419 122 0.336 91 79 19 10 23 17.61 23456 chr5 176005477 176005477 C T rs2358747 CDHR2 Synonymous SNV D562D 0.795 0.727 0.823 303 933 279 0.777 242 371 102 99 117 9.24 23457 chr16 87454310 87454310 A G rs78839939 ZCCHC14 Nonsynonymous SNV Y285H 0.024 0.021 0.024 10 28 8 0.026 7 0 0 0 0 1.62 23458 chr18 47810351 47810351 A G rs7228084 CXXC1 Synonymous SNV T446T 0.726 0.711 0.697 270 852 273 0.692 205 313 96 74 94 5.491 23459 chr16 84035514 84035514 G A rs2271299 NECAB2 Synonymous SNV L357L 0.014 0.016 0.01 7 16 6 0.018 3 0 0 0 0 1.419 23460 chr16 81248716 81248716 C T rs12933806 PKD1L2 Nonsynonymous SNV V183I 0.116 0.125 0.099 52 136 48 0.133 29 7 3 2 4 0.027 23461 chr5 176005481 176005481 G A rs61743422 CDHR2 Nonsynonymous SNV G564R 0.037 0.023 0.037 12 43 9 0.031 11 2 1 0 0 25.8 23462 chr18 47908556 47908556 G A rs6507992 SKA1 Nonsynonymous SNV V91I 0.625 0.672 0.643 249 734 258 0.638 189 237 88 58 86 4.454 23463 chr16 84070500 84070500 C G rs1317524 SLC38A8 Synonymous SNV S65S 0.33 0.37 0.235 139 388 142 0.356 69 64 26 14 22 12.73 23464 chr5 140682757 140682757 C T rs3749780 SLC25A2 Nonsynonymous SNV V226I 0.117 0.109 0.116 35 137 42 0.09 34 6 1 4 1 20.9 23465 chr16 84100173 84100173 C T rs11550470 MBTPS1 Synonymous SNV L758L 0.036 0.036 0.024 22 42 14 0.056 7 2 0 0 1 11.95 23466 chr16 681279 681279 C T rs141017859 WFIKKN1 Nonsynonymous SNV P9L 0.026 0.018 0.037 14 31 7 0.036 11 1 0 0 0 5.026 23467 chr18 48190440 48190440 G A rs3752087 MAPK4 Nonsynonymous SNV V38M 0.405 0.401 0.435 167 475 154 0.428 128 99 33 25 39 0.016 23468 chr5 176017639 176017639 C A rs17078347 CDHR2 Nonsynonymous SNV L1164M 0.198 0.253 0.173 81 232 97 0.208 51 20 12 5 5 12.81 23469 chr16 87678249 87678249 G A rs9934222 JPH3 Synonymous SNV T256T 0.173 0.172 0.15 63 203 66 0.162 44 16 7 5 6 11.49 23470 chr18 48333203 48333203 C G rs4940019 MRO Nonsynonymous SNV R39S 0.588 0.594 0.537 237 690 228 0.608 158 201 68 40 74 21.9 23471 chr16 681280 681280 G T rs4984905 WFIKKN1 Synonymous SNV P9P 0.152 0.135 0.167 53 178 52 0.136 49 23 2 9 5 4.293 23472 chr5 176024880 176024880 C T rs4868663 GPRIN1 Synonymous SNV G652G 0.925 0.938 0.901 357 1086 360 0.915 265 507 169 119 163 9.697 23473 chr16 68225292 68225292 C T rs201035978 NFATC3 Nonsynonymous SNV S907L 0.008 0 0 1 9 0 0.003 0 0 0 0 0 23.4 23474 chr16 87788833 87788833 G T rs17772510 KLHDC4 Synonymous SNV I55I 0.058 0.081 0.068 30 68 31 0.077 20 4 1 1 2 11.23 23475 chr5 176025938 176025938 T C rs6556276 GPRIN1 Nonsynonymous SNV M300V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 23476 chr18 48346024 48346024 G T rs3813089 MRO Nonsynonymous SNV T23N 0.208 0.211 0.19 75 244 81 0.192 56 29 10 4 1 19.56 23477 chr16 84213375 84213375 G C rs147238297 TAF1C Synonymous SNV V262V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign 1.25 23478 chr18 48458662 48458662 G A rs649224 ME2 Nonsynonymous SNV G450E 0.129 0.12 0.122 40 151 46 0.103 36 14 2 1 1 9.417 23479 chr5 140720516 140720516 C G rs35592458 PCDHGA2 Nonsynonymous SNV L660V 0.488 0.49 0.52 205 573 188 0.526 153 130 44 45 42 7.566 23480 chr16 88501355 88501355 A G ZNF469 Nonsynonymous SNV R2493G 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 24 23481 chr5 176314459 176314459 G A rs2278492 HK3 Synonymous SNV D531D 0.356 0.346 0.32 124 418 133 0.318 94 74 29 17 22 0.103 23482 chr16 66600479 66600479 G A rs7193473 CMTM1 Synonymous SNV P21P 0.121 0.138 0.184 56 142 53 0.144 54 10 3 4 5 6.535 23483 chr5 176314639 176314639 G A rs6875296 HK3 Synonymous SNV A471A 0.353 0.344 0.316 124 415 132 0.318 93 72 29 17 22 2.845 23484 chr16 66613525 66613525 G A rs11553598 CMTM2 Synonymous SNV A5A 0.077 0.083 0.116 36 90 32 0.092 34 5 1 2 2 9.626 23485 chr18 48723217 48723217 C T rs35675106 MEX3C Synonymous SNV P158P 0.999 0.997 0.969 389 1173 383 0.997 285 586 191 142 194 10.48 23486 chr5 140724060 140724060 A C rs11575948 PCDHGA3 Nonsynonymous SNV I154L 0.068 0.081 0.092 36 80 31 0.092 27 2 2 1 2 4.69 23487 chr16 706534 706534 G A rs28485323 WDR90 Synonymous SNV Q733Q 0.147 0.12 0.221 56 172 46 0.144 65 23 4 12 4 0.376 23488 chr18 48991891 48991891 G A rs7241264 LINC01630 0 0 0.35 0 0 0 0 103 0 0 21 0 5.227 23489 chr5 176378574 176378574 G T rs365132 UIMC1 Synonymous SNV T448T 0.472 0.523 0.517 194 554 201 0.497 152 137 61 42 54 4.277 23490 chr16 66614008 66614008 T C rs2290182 CMTM2 Nonsynonymous SNV I122T 0.11 0.128 0.156 50 129 49 0.128 46 9 3 2 5 6.46 23491 chr18 49867224 49867224 T C rs9951523 DCC Nonsynonymous SNV F23L 0.991 0.982 0.976 383 1163 377 0.982 287 576 185 140 188 15.79 23492 chr5 176402401 176402401 G A rs1700490 UIMC1 Synonymous SNV I76I 0.487 0.536 0.469 202 572 206 0.518 138 137 61 41 54 15.1 23493 chr5 140725523 140725523 C T rs112486508 PCDHGA3 Synonymous SNV S641S 0.038 0.049 0.058 14 45 19 0.036 17 0 0 0 0 8.351 23494 chr5 176517461 176517461 T G rs446382 FGFR4 Synonymous SNV R54R 0.657 0.654 0.619 253 771 251 0.649 182 251 80 57 85 0.406 23495 chr18 50278686 50278686 G A rs13381333 DCC Synonymous SNV E118E 0.193 0.211 0.221 64 226 81 0.164 65 21 8 5 5 9.064 23496 chr16 88504850 88504850 G C rs1105066 ZNF469 Nonsynonymous SNV E3658Q 0.306 0.344 0.306 112 359 132 0.287 90 51 20 11 16 Benign 7.147 23497 chr18 50432602 50432602 C G rs2229080 DCC Nonsynonymous SNV R201G 0.404 0.419 0.48 158 474 161 0.405 141 108 36 35 37 Benign 20.9 23498 chr5 176517797 176517797 C T rs376618 FGFR4 Nonsynonymous SNV P136L 0.674 0.685 0.68 264 791 263 0.677 200 266 89 66 87 6.606 23499 chr16 708275 708275 C A rs45613635 WDR90 Nonsynonymous SNV H899Q 0.188 0.167 0.224 69 221 64 0.177 66 23 4 11 4 23.6 23500 chr18 50936994 50936994 T C rs2229082 DCC Synonymous SNV P1036P 0.445 0.503 0.452 175 522 193 0.449 133 111 50 34 44 0.31 23501 chr16 81314496 81314496 C T rs7501331 BCO1 Nonsynonymous SNV A379V 0.199 0.208 0.228 89 234 80 0.228 67 24 5 7 11 22.8 23502 chr18 51795958 51795960 CGA - rs10584411 POLI D17del 0.671 0.617 0.711 255 788 237 0.654 209 306 86 77 98 23503 chr5 176518784 176518784 C T rs452885 FGFR4 Synonymous SNV R234R 0.674 0.685 0.68 264 791 263 0.677 200 266 89 66 87 7.754 23504 chr5 140731408 140731408 A G rs3749777 PCDHGB1 Synonymous SNV T527T 0.068 0.081 0.092 36 80 31 0.092 27 2 2 1 2 0.001 23505 chr18 51820805 51820805 G A rs8305 POLI Nonsynonymous SNV A610T 0.722 0.674 0.735 276 848 259 0.708 216 311 87 78 98 0.146 23506 chr5 176520243 176520243 G A rs351855 FGFR4 Nonsynonymous SNV G388R 0.26 0.276 0.344 114 305 106 0.292 101 41 16 12 19 Uncertain significance 24.8 23507 chr5 140735215 140735215 G A rs11575949 PCDHGA4 Nonsynonymous SNV A181T 0.068 0.081 0.085 37 80 31 0.095 25 2 2 1 2 0.443 23508 chr16 818559 818559 A G rs1135210 MSLN Nonsynonymous SNV M601V 0.219 0.232 0.276 102 257 89 0.262 81 35 13 15 13 0.001 23509 chr5 140736474 140736474 T G rs17097226 PCDHGA4 Synonymous SNV T600T 0.068 0.081 0.088 37 80 31 0.095 26 2 2 1 2 0.002 23510 chr18 52265308 52265308 A C rs9947055 DYNAP Nonsynonymous SNV T137P 0.646 0.706 0.639 252 758 271 0.646 188 235 93 59 85 12.6 23511 chr5 176636882 176636882 C T rs1363405 NSD1 Synonymous SNV C494C 0.167 0.182 0.184 65 196 70 0.167 54 25 8 8 6 Benign 11.26 23512 chr16 67691515 67691515 C A rs14920 ACD Synonymous SNV P457P 0.038 0.049 0.048 19 45 19 0.049 14 1 0 0 1 Benign 13.64 23513 chr5 140741407 140741407 C A rs138456654 PCDHGB2 Nonsynonymous SNV P569T 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 0.028 23514 chr18 5238208 5238208 C T rs1061666 LINC00667 0 0 0.507 0 0 0 0 149 0 0 37 0 7.133 23515 chr5 176637149 176637149 G A rs3733874 NSD1 Synonymous SNV E583E 0.065 0.086 0.075 30 76 33 0.077 22 5 5 1 3 Benign 3.02 23516 chr16 68893953 68893953 T C rs4597312 TANGO6 Synonymous SNV S87S 0.09 0.117 0.112 20 106 45 0.051 33 7 3 2 0 4.531 23517 chr16 72821593 72821593 - GCC rs374416547 ZFHX3 G2613_S2614insG 0.053 0.047 0.054 16 62 18 0.041 16 1 0 0 0 23518 chr18 5238412 5238412 C A rs9627 LINC00667 0 0 0.187 0 0 0 0 55 0 0 6 0 9.748 23519 chr5 176637240 176637240 G T rs3733875 NSD1 Nonsynonymous SNV V614L 0.062 0.083 0.075 30 73 32 0.077 22 5 5 1 3 Benign 0.001 23520 chr18 5238442 5238442 G C rs11795 LINC00667 0 0 0.313 0 0 0 0 92 0 0 16 0 4.571 23521 chr16 69304048 69304048 A G rs1136042 SNTB2 Synonymous SNV A336A 0.046 0.023 0.034 18 54 9 0.046 10 2 0 0 0 14.26 23522 chr5 140741673 140741673 G C rs73265834 PCDHGB2 Synonymous SNV T657T 0.067 0.081 0.088 36 79 31 0.092 26 2 2 1 2 2.129 23523 chr18 5238499 5238499 C T rs12163 LINC00667 0 0 0.061 0 0 0 0 18 0 0 0 0 9.205 23524 chr18 52605188 52605188 C T rs1344011 CCDC68 Synonymous SNV K115K 0.253 0.24 0.272 82 297 92 0.21 80 32 13 15 8 16.47 23525 chr16 67697922 67697922 C T rs143645135 ENKD1 Nonsynonymous SNV R166Q 0.024 0.031 0.031 11 28 12 0.028 9 1 0 0 1 24.2 23526 chr5 140741738 140741738 G C rs62378417 PCDHGB2 Nonsynonymous SNV R679P 0.069 0.081 0.088 37 81 31 0.095 26 2 2 1 2 7.836 23527 chr5 176637576 176637576 T C rs28932178 NSD1 Nonsynonymous SNV S726P 0.089 0.104 0.102 36 105 40 0.092 30 7 5 2 4 Benign 0.009 23528 chr18 5292030 5292030 A G rs620652 ZBTB14 Synonymous SNV T59T 0.847 0.852 0.878 334 994 327 0.856 258 417 141 113 141 0.195 23529 chr16 72923682 72923682 G A rs376290084 ZFHX3 Synonymous SNV D218D 0.005 0 0 2 6 0 0.005 0 0 0 0 0 10.82 23530 chr18 53303101 53303101 C G rs611326 TCF4 Nonsynonymous SNV A10P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 2.45 23531 chr16 69355155 69355155 G A rs1127232 VPS4A Synonymous SNV S351S 0.081 0.042 0.054 21 95 16 0.054 16 4 0 0 1 9.814 23532 chr5 140741761 140741761 A G rs57735633 PCDHGB2 Nonsynonymous SNV K687E 0.069 0.081 0.088 37 81 31 0.095 26 2 2 1 2 8.747 23533 chr5 176721198 176721198 T C rs28580074 NSD1 Synonymous SNV L2277L 0.934 0.917 0.922 356 1097 352 0.913 271 515 165 125 164 Benign 0.226 23534 chr16 69364030 69364030 G A rs3852691 PDF Synonymous SNV F148F 0.083 0.042 0.065 21 98 16 0.054 19 7 0 1 1 8.052 23535 chr16 88709828 88709828 A G rs1049254 CYBA Nonsynonymous SNV V174A 0.44 0.409 0.35 199 517 157 0.51 103 206 64 39 78 Benign 0.001 23536 chr18 53696010 53696010 A G rs1477440 LOC642484 0 0 0.619 0 0 0 0 182 0 0 62 0 1.16 23537 chr18 5410574 5410574 A G rs3817466 EPB41L3 Synonymous SNV T535T 0.916 0.906 0.878 349 1075 348 0.895 258 492 157 113 156 6.262 23538 chr5 176721272 176721272 G C rs11740250 NSD1 Synonymous SNV G2301G 0.307 0.289 0.32 113 361 111 0.29 94 63 17 15 10 Benign 4.228 23539 chr5 140744113 140744113 G C rs149041036 PCDHGA5 Synonymous SNV T72T 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 1.598 23540 chr18 54339818 54339818 C G rs568078 WDR7 Synonymous SNV A24A 0.999 1 0.986 386 1173 384 0.99 290 586 192 143 191 8.293 23541 chr16 84328590 84328590 G A rs137903168 WFDC1 Nonsynonymous SNV G5S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Likely benign 0.002 23542 chr16 88498299 88498299 C T rs199897247 ZNF469 Nonsynonymous SNV A1474V 0.015 0.013 0.02 6 18 5 0.015 6 0 0 0 0 Benign/Likely benign 15.39 23543 chr5 176733116 176733116 A G rs4631 PRELID1 Synonymous SNV R150R 0.933 0.909 0.918 353 1095 349 0.905 270 513 163 124 161 2.146 23544 chr5 140744395 140744395 T C rs57308563 PCDHGA5 Synonymous SNV S166S 0.068 0.081 0.088 37 80 31 0.095 26 2 2 1 2 0.004 23545 chr18 54448778 54448778 G A rs2302845 WDR7 Synonymous SNV A994A 0.612 0.622 0.636 242 719 239 0.621 187 242 77 61 79 12.4 23546 chr18 55221648 55221648 T C rs536560 FECH Synonymous SNV P274P 0.675 0.682 0.66 256 792 262 0.656 194 270 91 63 85 Benign 0.028 23547 chr5 176734855 176734855 G C rs4568379 MXD3 Synonymous SNV A144A 0.294 0.289 0.316 106 345 111 0.272 93 55 16 13 8 0.445 23548 chr18 55226383 55226383 G C rs536765 FECH Synonymous SNV P266P 0.674 0.677 0.656 256 791 260 0.656 193 270 89 62 85 Benign 1.424 23549 chr16 68336360 68336360 A G rs35736950 SLC7A6OS Synonymous SNV D241D 0.06 0.052 0.054 29 70 20 0.074 16 3 0 1 1 11.67 23550 chr16 69381769 69381769 C T rs16958777 TMED6 Synonymous SNV G137G 0.083 0.042 0.065 21 98 16 0.054 19 7 0 1 1 13.75 23551 chr5 176815124 176815124 T C rs5030873 SLC34A1 Synonymous SNV H258H 0.417 0.461 0.344 138 489 177 0.354 101 102 37 19 22 Benign 0.04 23552 chr18 55317676 55317676 C T rs222581 ATP8B1 Nonsynonymous SNV A1102T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.365 23553 chr5 140753842 140753842 C A rs3749775 PCDHGA6 Synonymous SNV V64V 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 2.912 23554 chr5 176831826 176831826 C G rs17876030 F12 Nonsynonymous SNV A207P 0.985 0.987 0.969 384 1156 379 0.985 285 569 187 140 189 Benign 6.006 23555 chr18 55335366 55335366 G T rs28424873 LOC100505549 0.148 0.203 0.214 72 174 78 0.185 63 13 9 3 7 10.26 23556 chr16 74519807 74519807 T C rs76382044 GLG1 Synonymous SNV T475T 0.023 0.01 0.01 17 27 4 0.044 3 1 0 0 0 6.952 23557 chr5 140755387 140755387 C T rs62378422 PCDHGA6 Synonymous SNV P579P 0.07 0.081 0.085 37 82 31 0.095 25 2 2 2 2 10.64 23558 chr18 55362532 55362532 T G rs319443 ATP8B1 Synonymous SNV R221R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 9.675 23559 chr16 83214480 83214480 C A rs7188594 CDH13 Synonymous SNV T163T 0.332 0.31 0.313 139 390 119 0.356 92 71 22 15 27 12.7 23560 chr5 176863519 176863519 G C rs1130857 GRK6 Synonymous SNV P254P 0.558 0.508 0.473 217 655 195 0.556 139 183 49 39 58 14.29 23561 chr16 88779132 88779132 C T rs2290895 CTU2 Nonsynonymous SNV H99Y 0.175 0.141 0.15 62 206 54 0.159 44 17 2 5 3 23.1 23562 chr5 140755495 140755495 A G rs3749773 PCDHGA6 Synonymous SNV G615G 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 0.007 23563 chr18 55364852 55364852 A G rs319438 ATP8B1 Synonymous SNV D182D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 13.04 23564 chr5 176885178 176885178 A G rs28538572 DBN1 Nonsynonymous SNV S285P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.45 23565 chr18 55816791 55816791 G A rs4149601 NEDD4L Synonymous SNV Q8Q 0.349 0.367 0.361 122 410 141 0.313 106 68 27 19 21 drug response 11.15 23566 chr5 140755573 140755573 C A rs11575954 PCDHGA6 Nonsynonymous SNV S641R 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 11.35 23567 chr16 839084 839084 A C rs2277901 CHTF18 Nonsynonymous SNV Q82P 0.122 0.128 0.129 70 143 49 0.179 38 12 4 5 7 0.002 23568 chr16 88779753 88779753 C T rs73262667 CTU2 Synonymous SNV H170H 0.181 0.141 0.153 65 213 54 0.167 45 17 2 5 4 14.85 23569 chr18 56149099 56149099 T C rs7240666 ALPK2 Nonsynonymous SNV I2157V 0.768 0.776 0.789 298 902 298 0.764 232 349 116 91 112 0.001 23570 chr5 176885499 176885499 T C rs2544809 DBN1 Nonsynonymous SNV I178V 0.6 0.56 0.52 233 704 215 0.597 153 202 57 43 68 0.001 23571 chr16 84494171 84494171 T G rs113528526 ATP2C2-AS1 0.012 0.01 0.02 7 14 4 0.018 6 0 0 0 0 4.856 23572 chr16 88780090 88780090 G A rs2290904 CTU2 Synonymous SNV V216V 0.227 0.193 0.207 76 266 74 0.195 61 30 6 6 7 12.51 23573 chr5 140755858 140755858 C G rs780024608 PCDHGA6 Synonymous SNV P736P 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 8.813 23574 chr18 56202418 56202418 T C rs10469212 ALPK2 Synonymous SNV K1667K 0.996 0.992 0.99 386 1169 381 0.99 291 582 189 144 191 4.599 23575 chr5 140762763 140762763 T C rs7704696 PCDHGA7 Synonymous SNV S99S 0.037 0.036 0.048 14 44 14 0.036 14 0 0 0 0 0.02 23576 chr16 84028014 84028014 C G rs2292324 NECAB2 Nonsynonymous SNV T152S 0.118 0.117 0.095 47 138 45 0.121 28 7 4 1 3 0.011 23577 chr18 56202982 56202982 A T rs3826594 ALPK2 Synonymous SNV A1479A 0.751 0.745 0.735 302 882 286 0.774 216 324 105 81 118 0.088 23578 chr5 176894756 176894756 C T rs2545794 DBN1 Synonymous SNV A106A 0.585 0.549 0.507 227 687 211 0.582 149 186 56 41 63 16.08 23579 chr16 84495301 84495301 C G rs12931468 ATP2C2-AS1 0.057 0.055 0.058 24 67 21 0.062 17 1 0 1 0 4.631 23580 chr5 140762993 140762993 G A rs72790024 PCDHGA7 Nonsynonymous SNV R176H 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 6.9 23581 chr18 56203411 56203411 G C rs3809980 ALPK2 Synonymous SNV P1336P 0.751 0.745 0.735 302 882 286 0.774 216 324 105 81 118 10.35 23582 chr5 176916516 176916516 C T rs335462 PDLIM7 Synonymous SNV P249P 0.572 0.523 0.578 208 671 201 0.533 170 197 58 52 54 17.26 23583 chr16 84495457 84495457 G C rs143506642 ATP2C2-AS1 0.049 0.044 0.054 25 57 17 0.064 16 2 2 2 0 4.354 23584 chr16 71894324 71894324 G A rs149068810 ZNF821 Nonsynonymous SNV T237M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.5 23585 chr18 56203447 56203447 A G rs3809979 ALPK2 Synonymous SNV H1324H 0.751 0.745 0.735 302 882 286 0.774 216 324 105 81 118 6.225 23586 chr16 840378 840378 A G rs3765263 CHTF18 Nonsynonymous SNV K244R 0.237 0.242 0.272 98 278 93 0.251 80 38 10 12 14 0.001 23587 chr18 56203891 56203891 G T rs3809978 ALPK2 Synonymous SNV P1176P 0.751 0.747 0.735 302 882 287 0.774 216 324 106 81 118 8.755 23588 chr5 176930135 176930135 G A rs28376231 DOK3 Nonsynonymous SNV R200C 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 5.512 23589 chr16 68856030 68856030 A T CDH1 Nonsynonymous SNV N552I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 23590 chr16 84520292 84520292 C T rs3743667 MEAK7 Synonymous SNV K301K 0.04 0.036 0.031 9 47 14 0.023 9 0 0 0 0 8.837 23591 chr18 56203898 56203898 T G rs3809977 ALPK2 Nonsynonymous SNV H1174P 0.751 0.747 0.735 302 882 287 0.774 216 324 106 81 118 11.56 23592 chr16 84067004 84067004 C T rs57576928 SLC38A8 Synonymous SNV L153L 0.086 0.086 0.051 39 101 33 0.1 15 3 0 2 2 5.839 23593 chr5 140763888 140763888 G A rs6883770 PCDHGA7 Synonymous SNV V474V 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 0.044 23594 chr5 176930172 176930174 GAG - rs138153794 DOK3 L187del 0.589 0.542 0.582 217 691 208 0.556 171 205 59 53 58 23595 chr18 56204250 56204250 A C rs3809976 ALPK2 Nonsynonymous SNV L1057V 0.751 0.745 0.735 302 882 286 0.774 216 324 105 81 118 3.1 23596 chr16 88599962 88599962 G A rs574184583 ZFPM1 Synonymous SNV G532G 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 0.24 23597 chr5 176936650 176936650 T C rs28565502 DOK3 Synonymous SNV L20L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.213 23598 chr5 140764320 140764320 G C rs114533608 PCDHGA7 Synonymous SNV A618A 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 0.37 23599 chr16 68862165 68862165 C T rs33964119 CDH1 Synonymous SNV N690N 0.017 0.018 0.027 8 20 7 0.021 8 0 0 1 0 Benign 14.72 23600 chr16 84126901 84126901 C T rs16962810 MBTPS1 Synonymous SNV G246G 0.02 0.021 0.014 10 24 8 0.026 4 0 0 0 0 10.63 23601 chr16 720986 720986 G A rs1139897 RHOT2 Nonsynonymous SNV R194Q 0.191 0.169 0.228 75 224 65 0.192 67 24 4 12 6 18.28 23602 chr18 56204644 56204644 T G rs12963422 ALPK2 Synonymous SNV V925V 0.354 0.349 0.289 145 416 134 0.372 85 79 25 14 29 8.431 23603 chr5 176940384 176940384 G A rs335438 DDX41 Synonymous SNV R274R 0.457 0.417 0.507 181 537 160 0.464 149 123 30 37 37 10.35 23604 chr5 140767902 140767902 C A rs67622091 PCDHGB4 Synonymous SNV R151R 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 20.6 23605 chr16 70304215 70304215 G A rs141840552 AARS1 Nonsynonymous SNV P234S 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 Benign/Likely benign 28.9 23606 chr16 84135372 84135372 A G rs34701895 MBTPS1 Nonsynonymous SNV I6T 0.02 0.018 0.01 9 24 7 0.023 3 0 0 0 0 11.57 23607 chr18 56204747 56204747 G A rs3826593 ALPK2 Nonsynonymous SNV T891I 0.899 0.885 0.854 341 1055 340 0.874 251 474 150 108 150 5.845 23608 chr5 176951276 176951276 A G rs337382 FAM193B Nonsynonymous SNV S736P 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 7.142 23609 chr5 140767989 140767989 C T rs68033444 PCDHGB4 Synonymous SNV L180L 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 6.567 23610 chr16 75269723 75269723 G A rs923543187 BCAR1 Synonymous SNV A148A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.31 23611 chr16 69201050 69201050 C T rs61185783 UTP4 Nonsynonymous SNV R553C 0.023 0.026 0.027 7 27 10 0.018 8 0 0 1 0 Benign 28 23612 chr16 72130125 72130125 T C rs11554764 DHX38 Synonymous SNV G23G 0.064 0.076 0.041 23 75 29 0.059 12 5 1 0 1 0.815 23613 chr5 140772410 140772410 C T rs77141792 PCDHGA8 Synonymous SNV R10R 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 12.81 23614 chr18 56246442 56246442 T C rs12606191 ALPK2 Synonymous SNV G522G 0.426 0.451 0.48 161 500 173 0.413 141 99 38 32 33 0.054 23615 chr16 84158248 84158248 G C rs4378600 HSDL1 Nonsynonymous SNV S327C 0.273 0.234 0.255 128 321 90 0.328 75 42 11 11 19 22.6 23616 chr5 177031348 177031348 T C rs11537644 B4GALT7 Synonymous SNV R73R 0.672 0.693 0.592 259 789 266 0.664 174 266 85 49 85 Benign 0.007 23617 chr5 140773888 140773888 C G rs11575959 PCDHGA8 Nonsynonymous SNV S503W 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 24.5 23618 chr18 56247180 56247180 T C rs9958735 ALPK2 Synonymous SNV L276L 0.569 0.578 0.537 226 668 222 0.579 158 189 63 43 67 8.384 23619 chr18 56247567 56247567 A G rs9956630 ALPK2 Synonymous SNV Y147Y 0.569 0.578 0.541 226 668 222 0.579 159 189 63 43 67 0.442 23620 chr5 177035964 177035964 T C rs729459 B4GALT7 Synonymous SNV H259H 0.553 0.591 0.52 230 649 227 0.59 153 179 70 40 65 Benign 0.038 23621 chr18 56247600 56247600 C A rs9944810 ALPK2 Nonsynonymous SNV R136S 0.569 0.578 0.534 227 668 222 0.582 157 189 63 42 68 0.009 23622 chr16 84531655 84531655 C G MEAK7 Nonsynonymous SNV C13S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.009 23623 chr5 177422876 177422876 T C rs7445271 PROP1 Nonsynonymous SNV N20S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 23624 chr5 140778580 140778580 G A rs145783835 PCDHGB5 Nonsynonymous SNV E296K 0.023 0.026 0.034 10 27 10 0.026 10 1 0 0 0 1.466 23625 chr18 56279025 56279025 T G rs6566987 ALPK2 Nonsynonymous SNV K2T 0.813 0.786 0.799 308 954 302 0.79 235 402 127 97 127 4.165 23626 chr5 177422908 177422908 A G rs1135320 PROP1 Synonymous SNV A9A 0.596 0.536 0.52 234 700 206 0.6 153 216 65 43 75 Benign 0.019 23627 chr16 84691433 84691433 C T rs72797514 KLHL36 Synonymous SNV V340V 0.031 0.034 0.027 13 36 13 0.033 8 0 0 0 0 12.61 23628 chr18 56367823 56367823 A G rs74847855 MALT1 Nonsynonymous SNV R217G 0.027 0.018 0.037 5 32 7 0.013 11 1 0 0 0 Benign 0.037 23629 chr5 177547247 177547247 T C rs7719667 N4BP3 Synonymous SNV S133S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.035 23630 chr5 178359136 178359136 A G rs961030 ZFP2 Synonymous SNV Q274Q 0.364 0.323 0.364 137 427 124 0.351 107 76 19 22 25 0.022 23631 chr5 140787850 140787850 C G rs62378453 PCDHGB6 Synonymous SNV P27P 0.07 0.081 0.088 38 82 31 0.097 26 2 2 2 2 1.981 23632 chr16 88803982 88803982 C G rs6500493 PIEZO1 Nonsynonymous SNV V394L 0.681 0.677 0.619 267 799 260 0.685 182 270 90 54 91 Benign 1.389 23633 chr5 178391860 178391860 G A rs6867221 ZNF454 Nonsynonymous SNV C152Y 0.334 0.315 0.327 124 392 121 0.318 96 64 20 16 19 0.003 23634 chr18 56887507 56887507 C A rs1062557 GRP Nonsynonymous SNV R4S 0.51 0.552 0.391 201 599 212 0.515 115 231 89 49 70 12.65 23635 chr18 56936395 56936395 T C rs7226481 RAX Synonymous SNV Q294Q 0.266 0.268 0.245 95 312 103 0.244 72 45 16 17 13 Benign 0.531 23636 chr16 84902483 84902483 A T rs72799568 CRISPLD2 Nonsynonymous SNV M294L 0.081 0.096 0.065 34 95 37 0.087 19 5 0 3 0 6.968 23637 chr18 56940307 56940307 G T rs2271733 RAX Nonsynonymous SNV D44E 0.271 0.266 0.282 95 318 102 0.244 83 44 15 17 13 Benign 19.02 23638 chr16 88783289 88783289 G A rs34655152 PIEZO1 Synonymous SNV S2226S 0.049 0.052 0.061 11 58 20 0.028 18 1 1 1 1 Benign 12.06 23639 chr5 178391902 178391902 A C rs12719860 ZNF454 Nonsynonymous SNV D166A 0.665 0.685 0.667 264 781 263 0.677 196 259 91 65 89 0.003 23640 chr18 57022754 57022754 T C rs1127220 LMAN1 Synonymous SNV R117R 0.284 0.286 0.282 105 333 110 0.269 83 44 18 15 18 Benign 1.526 23641 chr18 57026436 57026436 C T rs1043302 LMAN1 Nonsynonymous SNV R14Q 0.104 0.125 0.102 30 122 48 0.077 30 3 6 1 0 Benign 17.82 23642 chr5 178410151 178410151 C T rs2071247 GRM6 Synonymous SNV T732T 0.211 0.185 0.204 68 248 71 0.174 60 32 7 2 10 not provided 10.44 23643 chr16 70694000 70694000 C A rs4985556 IL34 Stop gain Y212X 0.1 0.099 0.082 48 117 38 0.123 24 3 1 1 3 33 23644 chr16 72831358 72831363 TTGTTG - rs568545014 ZFHX3 Q826_Q827del 0.011 0.016 0.01 6 13 6 0.015 3 0 0 0 0 23645 chr16 85015541 85015541 G A rs16975086 ZDHHC7 Synonymous SNV P125P 0.187 0.195 0.133 84 219 75 0.215 39 20 10 3 11 13.84 23646 chr16 88871908 88871908 A G rs1834065 CDT1 Synonymous SNV G183G 0.14 0.148 0.095 28 164 57 0.072 28 14 6 2 2 Benign 6.378 23647 chr5 178413947 178413947 T C rs11746675 GRM6 Synonymous SNV G464G 0.536 0.563 0.51 205 629 216 0.526 150 167 67 41 51 Benign 0.004 23648 chr16 72831555 72831555 T C rs147120168 ZFHX3 Nonsynonymous SNV S762G 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 0.002 23649 chr5 140799812 140799812 G A rs72790042 PCDHGB7 Nonsynonymous SNV V796I 0.036 0.034 0.037 14 42 13 0.036 11 0 0 0 0 0.002 23650 chr18 580623 580623 T C rs61734344 CETN1 Nonsynonymous SNV M72T 0.158 0.203 0.194 76 185 78 0.195 57 14 12 7 5 23.5 23651 chr5 178415937 178415937 A G rs2067011 GRM6 Synonymous SNV N451N 0.455 0.443 0.344 172 534 170 0.441 101 119 46 27 33 Benign 10.56 23652 chr16 88786063 88786063 C T rs34679131 PIEZO1 Synonymous SNV T2130T 0.055 0.06 0.061 12 64 23 0.031 18 1 1 1 1 Benign 14.43 23653 chr18 5891637 5891637 C A rs28656885 TMEM200C Synonymous SNV P142P 0.421 0.398 0.408 159 494 153 0.408 120 102 36 20 35 11.63 23654 chr5 178415982 178415982 A G rs4701014 GRM6 Synonymous SNV T436T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.003 23655 chr5 140802854 140802856 CCT - rs554024395 PCDHGA11 S688del 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 23656 chr18 59166541 59166541 C T rs12964819 CDH20 Synonymous SNV D123D 0.732 0.727 0.724 294 859 279 0.754 213 317 104 77 110 11.06 23657 chr16 88786226 88786226 G A rs531972155 PIEZO1 Nonsynonymous SNV L2103F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 23658 chr16 84212571 84212571 C A rs1804500 TAF1C Synonymous SNV R530R 0.315 0.302 0.255 107 370 116 0.274 75 53 23 15 12 12.01 23659 chr5 140812002 140812002 C A rs78612001 PCDHGA12 Nonsynonymous SNV A559E 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 23.8 23660 chr18 59170304 59170304 C G rs595093 CDH20 Synonymous SNV V260V 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 11.5 23661 chr5 178416063 178416063 G A rs2645339 GRM6 Synonymous SNV Y409Y 0.443 0.435 0.422 164 520 167 0.421 124 115 44 28 30 Benign 0.817 23662 chr18 5956238 5956238 C T rs3737353 L3MBTL4 Nonsynonymous SNV G609D 0.26 0.276 0.293 127 305 106 0.326 86 41 15 17 19 15.1 23663 chr5 178416288 178416288 G A rs2071246 GRM6 Synonymous SNV D377D 0.675 0.656 0.67 257 793 252 0.659 197 266 87 67 86 Benign 0.107 23664 chr5 178421770 178421770 T G rs2645329 GRM6 Nonsynonymous SNV Q59P 0.451 0.445 0.422 171 530 171 0.438 124 117 46 30 33 Benign 5.991 23665 chr18 59768375 59768375 A G rs17714063 PIGN Synonymous SNV T670T 0.241 0.286 0.252 111 283 110 0.285 74 33 14 12 17 Benign 9.556 23666 chr16 88873790 88873790 C T rs3218730 CDT1 Synonymous SNV R459R 0.129 0.125 0.092 27 151 48 0.069 27 13 5 2 2 Benign 13.33 23667 chr16 72992221 72992221 G A rs61735550 ZFHX3 Synonymous SNV S608S 0.17 0.167 0.197 68 199 64 0.174 58 17 8 4 2 0.761 23668 chr18 59770033 59770033 C T rs12326381 PIGN Synonymous SNV L654L 0.241 0.286 0.248 111 283 110 0.285 73 33 14 12 17 Benign 10.79 23669 chr18 59774037 59774037 C T rs9319997 PIGN Synonymous SNV L584L 0.241 0.286 0.252 111 283 110 0.285 74 33 14 12 17 Benign 13.23 23670 chr5 140865264 140865264 A G rs76923861 PCDHGC4 Nonsynonymous SNV N175S 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 19.7 23671 chr5 178507048 178507048 C G rs116562180 ZNF354C Nonsynonymous SNV L539V 0.103 0.109 0.122 43 121 42 0.11 36 3 3 1 2 11.81 23672 chr18 59780424 59780424 A G rs17714875 PIGN Synonymous SNV S459S 0.241 0.286 0.245 111 283 110 0.285 72 33 14 12 17 Benign 6.218 23673 chr16 88902199 88902199 G C rs34745339 GALNS Nonsynonymous SNV A46G 0.132 0.125 0.092 26 155 48 0.067 27 15 5 2 2 Benign 24.8 23674 chr16 779689 779689 G C rs1054788 HAGHL Synonymous SNV P334P 0.17 0.174 0.136 53 199 67 0.136 40 17 9 2 4 1.246 23675 chr18 59814268 59814268 G A rs9320000 PIGN Synonymous SNV H247H 0.557 0.581 0.602 223 654 223 0.572 177 180 68 53 68 Benign 5.575 23676 chr5 140867347 140867347 C T rs1423149 PCDHGC4 Synonymous SNV F869F 0.045 0.055 0.075 14 53 21 0.036 22 3 0 0 0 7.743 23677 chr16 735921 735921 T C rs763053 WDR24 Synonymous SNV A507A 0.221 0.177 0.238 75 259 68 0.192 70 30 4 13 7 0.036 23678 chr5 178507069 178507069 T C rs1445846 ZNF354C Nonsynonymous SNV F546L 0.712 0.721 0.776 271 836 277 0.695 228 303 101 90 97 12.75 23679 chr18 59814324 59814324 G C rs9320001 PIGN Nonsynonymous SNV H229D 0.742 0.747 0.748 286 871 287 0.733 220 317 109 82 106 Benign 1.457 23680 chr5 140869599 140869599 C T rs2233602 PCDHGC5 Synonymous SNV L264L 0.024 0.026 0.017 8 28 10 0.021 5 0 0 0 0 0.008 23681 chr16 88925989 88925989 A G rs3784873 TRAPPC2L Nonsynonymous SNV H32R 0.014 0.016 0.017 8 17 6 0.021 5 0 0 0 0 2.336 23682 chr16 88926026 88926026 C T rs3826063 TRAPPC2L Synonymous SNV T44T 0.011 0.013 0.017 8 13 5 0.021 5 0 0 0 0 4.603 23683 chr5 178507090 178507090 G A rs1445845 ZNF354C Nonsynonymous SNV E553K 0.691 0.69 0.772 266 811 265 0.682 227 303 101 90 97 15.89 23684 chr16 70505213 70505213 G A rs200559563 FCSK Synonymous SNV P433P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.972 23685 chr18 59936142 59936142 C T rs17645999 RELCH Synonymous SNV V907V 0.233 0.263 0.255 104 274 101 0.267 75 32 14 11 15 12.99 23686 chr16 88931509 88931509 G A rs76746996 PABPN1L Synonymous SNV L163L 0.013 0.01 0.017 8 15 4 0.021 5 0 0 0 0 0.944 23687 chr16 88851310 88851310 A C rs2911442 PIEZO1 Synonymous SNV A21A 0.19 0.185 0.262 110 223 71 0.282 77 66 22 23 31 Benign 12.41 23688 chr16 88932976 88932976 C G rs77252404 PABPN1L Synonymous SNV P13P 0.01 0.005 0.017 8 12 2 0.021 5 0 0 0 0 3.542 23689 chr18 60021761 60021761 C T rs35211496 TNFRSF11A Nonsynonymous SNV H141Y 0.151 0.19 0.204 70 177 73 0.179 60 19 6 7 6 Benign/Likely benign 24.1 23690 chr5 178562967 178562967 G A rs1972715 ADAMTS2 Synonymous SNV D676D 0.193 0.201 0.122 76 226 77 0.195 36 23 7 3 7 Benign 12.26 23691 chr16 8729124 8729124 G A rs2302607 METTL22 Nonsynonymous SNV A219T 0.212 0.229 0.167 93 249 88 0.238 49 25 7 4 10 0.224 23692 chr16 89016732 89016732 G A rs111763399 LOC100129697 Nonsynonymous SNV G69D 0.02 0.029 0.01 9 23 11 0.023 3 0 1 1 0 0.048 23693 chr18 60027241 60027241 C T rs1805034 TNFRSF11A Nonsynonymous SNV A192V 0.548 0.523 0.575 225 643 201 0.577 169 172 54 45 62 Benign/Likely benign 13.51 23694 chr5 178634619 178634619 C T rs423552 ADAMTS2 Synonymous SNV A262A 0.905 0.898 0.874 357 1063 345 0.915 257 486 154 112 162 Benign 8.989 23695 chr16 89016735 89016735 A T rs12930980 LOC100129697 Nonsynonymous SNV Q70L 0.03 0.042 0.01 14 35 16 0.036 3 3 1 1 0 0.011 23696 chr5 178634672 178634672 C T rs398829 ADAMTS2 Nonsynonymous SNV V245I 0.377 0.318 0.367 142 443 122 0.364 108 75 26 21 26 Benign 8.079 23697 chr18 60036083 60036083 A G rs8092336 TNFRSF11A Synonymous SNV T297T 0.951 0.924 0.952 363 1116 355 0.931 280 531 163 133 169 Benign/Likely benign 0.343 23698 chr16 842450 842450 C T rs2277897 CHTF18 Synonymous SNV N446N 0.149 0.161 0.16 74 175 62 0.19 47 13 4 6 7 13.44 23699 chr16 70542353 70542353 C T rs138874791 COG4 Synonymous SNV Q335Q 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Likely benign 15.99 23700 chr18 60191428 60191428 G A rs7229802 ZCCHC2 Synonymous SNV E257E 0.789 0.773 0.765 303 926 297 0.777 225 366 119 87 119 8.654 23701 chr16 746884 746884 A C rs4984683 FBXL16 Synonymous SNV V174V 0.192 0.161 0.238 63 225 62 0.162 70 27 5 12 4 0.117 23702 chr5 178634683 178634683 C T rs11750821 ADAMTS2 Nonsynonymous SNV R241H 0.104 0.096 0.119 50 122 37 0.128 35 3 1 3 3 Benign/Likely benign 0.039 23703 chr18 60227833 60227833 T C rs17070100 ZCCHC2 Synonymous SNV H502H 0.161 0.19 0.16 48 189 73 0.123 47 13 5 4 1 0.014 23704 chr5 141021294 141021294 T G rs116772138 FCHSD1 Nonsynonymous SNV D661A 0.083 0.047 0.017 23 98 18 0.059 5 3 0 0 0 18.61 23705 chr16 746914 746914 G A rs4984915 FBXL16 Synonymous SNV A164A 0.189 0.161 0.238 63 222 62 0.162 70 26 5 12 4 1.952 23706 chr18 60237388 60237388 A G rs8096750 ZCCHC2 Synonymous SNV S633S 0.673 0.693 0.667 256 790 266 0.656 196 266 89 68 82 8.548 23707 chr18 60241699 60241699 T C rs34413962 ZCCHC2 Synonymous SNV I795I 0.113 0.13 0.112 35 133 50 0.09 33 9 2 2 1 2.479 23708 chr5 179193598 179193598 C T rs3797776 MAML1 Synonymous SNV S529S 0.223 0.219 0.248 97 262 84 0.249 73 30 11 7 13 8.977 23709 chr16 84256128 84256128 C T rs140124801 KCNG4 Nonsynonymous SNV V419M 0.023 0.01 0.01 5 27 4 0.013 3 0 0 0 0 Benign 28.8 23710 chr18 60562298 60562298 A T rs624821 PHLPP1 Synonymous SNV P707P 0.645 0.628 0.558 258 757 241 0.662 164 239 75 48 80 2.459 23711 chr5 179201847 179201847 G A rs6895902 MAML1 Nonsynonymous SNV S1007N 0.263 0.258 0.296 118 309 99 0.303 87 44 15 9 18 1.173 23712 chr5 141324955 141324955 - CTGCTGCTG rs5871792 PCDH12 S1181_R1182insSSS 0.432 0.451 0.429 173 507 173 0.444 126 121 40 32 39 23713 chr18 61022791 61022791 C T rs2003149 KDSR Synonymous SNV V87V 0.62 0.615 0.602 240 728 236 0.615 177 227 76 53 72 15.87 23714 chr16 74725282 74725282 C T rs35430251 MLKL Synonymous SNV P205P 0.029 0.039 0.031 17 34 15 0.044 9 1 1 0 0 12.23 23715 chr18 61156606 61156606 G C rs12454742 SERPINB5 Synonymous SNV P111P 0.69 0.698 0.724 252 810 268 0.646 213 285 95 76 80 11.78 23716 chr5 179260153 179260153 C T rs4935 SQSTM1 Synonymous SNV D292D 0.534 0.549 0.578 224 627 211 0.574 170 170 57 53 70 Benign 11.2 23717 chr5 141335241 141335241 A G rs164073 PCDH12 Synonymous SNV L726L 0.613 0.607 0.582 237 720 233 0.608 171 233 66 50 73 0.04 23718 chr18 61160287 61160287 T C rs2289519 SERPINB5 Nonsynonymous SNV S176P 0.701 0.698 0.728 255 823 268 0.654 214 294 95 76 82 18.45 23719 chr5 179260213 179260213 G A rs4797 SQSTM1 Synonymous SNV R312R 0.528 0.531 0.531 221 620 204 0.567 156 170 55 47 67 Benign 6.194 23720 chr5 141335284 141335284 G A rs164074 PCDH12 Synonymous SNV A711A 0.583 0.583 0.551 214 684 224 0.549 162 211 60 44 64 0.094 23721 chr16 70690916 70690916 C T rs77769000 IL34 Synonymous SNV S97S 0.041 0.042 0.027 4 48 16 0.01 8 1 0 0 0 16.63 23722 chr16 71660310 71660310 G A rs4788821 MARVELD3 Nonsynonymous SNV E60K 0.258 0.24 0.235 97 303 92 0.249 69 42 13 11 15 15.75 23723 chr5 179264731 179264731 T C rs10277 MRNIP Nonsynonymous SNV Q176R 0.536 0.555 0.578 229 629 213 0.587 170 175 59 53 72 Benign 0.001 23724 chr18 61170721 61170721 T C rs1455556 SERPINB5 Synonymous SNV S298S 0.689 0.669 0.697 254 809 257 0.651 205 274 84 68 80 0.012 23725 chr5 141336264 141336264 G T rs164075 PCDH12 Nonsynonymous SNV H385N 0.557 0.573 0.537 219 654 220 0.562 158 197 60 41 62 Benign 4.982 23726 chr16 81095219 81095219 C T rs112523458 C16orf46 Synonymous SNV K245K 0.012 0 0.01 6 14 0 0.015 3 0 0 0 0 9.253 23727 chr18 61170925 61170925 T C rs8093128 SERPINB5 Synonymous SNV I366I 0.999 1 0.99 388 1173 384 0.995 291 586 192 144 193 3.818 23728 chr18 61264298 61264298 G A rs1020694 SERPINB13 Nonsynonymous SNV G114S 0.737 0.716 0.755 253 865 275 0.649 222 309 94 87 81 0.27 23729 chr5 179267949 179267949 T C rs248248 MRNIP Nonsynonymous SNV R99G 0.704 0.716 0.752 274 827 275 0.703 221 290 99 84 98 11.12 23730 chr16 70710858 70710858 C T rs59984573 MTSS2 Synonymous SNV S252S 0.053 0.052 0.075 23 62 20 0.059 22 3 2 0 5 18.13 23731 chr5 141337126 141337126 C T rs164076 PCDH12 Synonymous SNV L97L 0.526 0.549 0.507 198 618 211 0.508 149 178 55 36 55 15.92 23732 chr18 61264468 61264468 C T rs1020693 SERPINB13 Synonymous SNV T170T 0.734 0.714 0.752 252 862 274 0.646 221 308 93 86 81 13.73 23733 chr16 87678441 87678441 C T rs8051448 JPH3 Synonymous SNV R320R 0.17 0.151 0.19 65 200 58 0.167 56 15 7 5 4 10.48 23734 chr16 71668634 71668634 T G rs12932850 MARVELD3 Synonymous SNV A378A 0.259 0.242 0.269 97 304 93 0.249 79 42 13 11 15 14.33 23735 chr5 179280379 179280379 T C rs1650893 MRNIP Nonsynonymous SNV Q42R 0.537 0.557 0.585 230 630 214 0.59 172 175 60 55 73 2.259 23736 chr18 61390316 61390316 C A rs1395265 SERPINB11 Synonymous SNV R113R 0.721 0.701 0.701 308 847 269 0.79 206 309 92 73 124 12.1 23737 chr5 141391532 141391532 G A rs164080 GNPDA1 Synonymous SNV R23R 0.484 0.477 0.558 188 568 183 0.482 164 142 41 46 43 13.73 23738 chr16 87678610 87678610 G A rs754027911 JPH3 Nonsynonymous SNV A377T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 29.2 23739 chr18 61390332 61390332 C T rs1395266 SERPINB11 Nonsynonymous SNV T118I 0.721 0.701 0.701 308 846 269 0.79 206 308 92 73 124 0.497 23740 chr16 71674882 71674882 C G rs2303225 MARVELD3 Synonymous SNV P395P 0.259 0.245 0.269 97 304 94 0.249 79 41 13 11 15 10.07 23741 chr5 179285752 179285752 G A rs10060182 MRNIP Synonymous SNV C15C 0.362 0.38 0.381 166 425 146 0.426 112 77 28 21 36 11.73 23742 chr18 61390361 61390361 T C rs1395267 SERPINB11 Nonsynonymous SNV S128P 0.718 0.701 0.697 304 843 269 0.779 205 307 93 73 120 21.6 23743 chr5 179290845 179290845 T G rs30386 TBC1D9B Nonsynonymous SNV K1102T 0.489 0.49 0.527 203 574 188 0.521 155 148 45 45 49 3.27 23744 chr16 75642154 75642154 T A rs761081644 ADAT1 Synonymous SNV T332T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.19 23745 chr18 61390570 61390570 T G rs953695 SERPINB11 Synonymous SNV L197L 0.718 0.695 0.697 308 843 267 0.79 205 305 91 73 124 1.181 23746 chr16 75646423 75646423 A G rs62619985 ADAT1 Nonsynonymous SNV I167T 0.06 0.081 0.058 33 71 31 0.085 17 3 1 1 1 13.18 23747 chr18 61654463 61654463 A G rs3826616 SERPINB8 Nonsynonymous SNV H179R 0.532 0.51 0.554 197 624 196 0.505 163 176 48 47 49 23.9 23748 chr5 179498595 179498595 C T rs3749821 RNF130 Synonymous SNV T36T 0.637 0.62 0.582 254 748 238 0.651 171 242 74 49 85 21.4 23749 chr5 179498658 179498658 G T rs3828698 RNF130 Synonymous SNV L15L 0.405 0.414 0.374 167 475 159 0.428 110 112 42 27 40 14.34 23750 chr16 71220755 71220755 A G rs75270082 HYDIN Nonsynonymous SNV M42T 0.062 0.076 0.075 30 73 29 0.077 22 3 1 2 2 Benign 12.66 23751 chr18 63489378 63489378 C T rs8097752 CDH7 Synonymous SNV V229V 0.943 0.948 0.946 364 1107 364 0.933 278 525 172 131 169 13.49 23752 chr5 179529124 179529124 G A rs7725201 RASGEF1C Synonymous SNV Y441Y 0.816 0.781 0.752 316 958 300 0.81 221 395 121 86 131 9.815 23753 chr18 63511176 63511176 T C rs2306675 CDH7 Synonymous SNV D370D 0.308 0.271 0.323 109 362 104 0.279 95 46 12 16 13 1.889 23754 chr16 89289624 89289624 G A rs12920028 ZNF778 Synonymous SNV L59L 0.098 0.076 0.112 37 115 29 0.095 33 5 0 2 3 10.1 23755 chr5 179563435 179563435 T C rs11546322 RASGEF1C Synonymous SNV E127E 0.325 0.375 0.388 140 382 144 0.359 114 62 28 22 23 0.048 23756 chr18 63530053 63530053 C T rs138789170 CDH7 Synonymous SNV D588D 0.014 0.01 0.003 3 16 4 0.008 1 1 0 0 0 11.54 23757 chr16 71885423 71885423 A G rs61747555 ATXN1L Nonsynonymous SNV S594G 0.163 0.169 0.136 59 191 65 0.151 40 14 10 2 8 8.39 23758 chr5 179729519 179729519 A G rs1035411 GFPT2 Synonymous SNV I636I 0.633 0.654 0.646 241 743 251 0.618 190 231 81 62 78 0.382 23759 chr18 64176365 64176365 G T rs1055335 CDH19 Synonymous SNV T565T 0.377 0.305 0.374 139 443 117 0.356 110 77 19 16 23 0.946 23760 chr16 75661803 75661803 G C rs6834 KARS1 Nonsynonymous SNV T595S 0.06 0.078 0.054 32 71 30 0.082 16 3 0 1 0 Benign 23.3 23761 chr18 64235777 64235777 G A rs781395608 CDH19 Synonymous SNV I122I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.91 23762 chr16 88495163 88495163 G A rs113937803 ZNF469 Nonsynonymous SNV A429T 0.031 0.039 0.014 6 36 15 0.015 4 0 2 0 0 Benign/Likely benign 0.002 23763 chr5 179740827 179740827 T C rs2303007 GFPT2 Nonsynonymous SNV I471V 0.21 0.237 0.201 64 246 91 0.164 59 29 13 10 6 8.605 23764 chr18 6511473 6511473 C T rs4798453 LINC01387 0 0 0.99 0 0 0 0 291 0 0 144 0 8.37 23765 chr18 65179829 65179829 G A rs2279269 DSEL Nonsynonymous SNV P673S 0.6 0.63 0.561 224 704 242 0.574 165 216 77 46 61 6.837 23766 chr16 76486581 76486581 A G rs28584228 CNTNAP4 Synonymous SNV S287S 0.099 0.102 0.095 34 116 39 0.087 28 3 2 1 0 2.494 23767 chr16 89293291 89293291 G A rs117690401 ZNF778 Nonsynonymous SNV V171M 0.049 0.031 0.061 23 57 12 0.059 18 2 0 1 0 2.684 23768 chr5 179996111 179996111 C T rs6877400 CNOT6 Synonymous SNV S248S 0.901 0.888 0.898 349 1058 341 0.895 264 478 153 119 155 11.93 23769 chr18 658064 658064 G C rs2853533 TYMSOS Nonsynonymous SNV R62G 0.207 0.167 0.204 72 243 64 0.185 60 25 5 5 9 12.26 23770 chr5 180043388 180043388 G A rs1130378 FLT4 Synonymous SNV P1066P 0.34 0.341 0.337 139 399 131 0.356 99 67 23 18 24 Benign 13.67 23771 chr5 180051003 180051003 T C rs307826 FLT4 Nonsynonymous SNV T494A 0.136 0.174 0.133 55 160 67 0.141 39 9 6 6 7 Benign 0.029 23772 chr16 84695280 84695280 A G rs17755815 KLHL36 Synonymous SNV L401L 0.194 0.143 0.129 58 228 55 0.149 38 23 4 1 2 7.519 23773 chr18 66504093 66504093 A C rs485613 CCDC102B Synonymous SNV A31A 0.99 0.995 0.997 383 1162 382 0.982 293 575 190 146 188 0.013 23774 chr16 771286 771286 C T rs11540049 ANTKMT Synonymous SNV D4D 0.251 0.193 0.262 91 295 74 0.233 77 82 16 17 20 12.85 23775 chr18 66504459 66504459 A T rs572020 CCDC102B Nonsynonymous SNV K153N 0.99 0.995 0.997 383 1162 382 0.982 293 575 190 146 188 0.27 23776 chr5 145894896 145894896 G C rs7709485 GPR151 Nonsynonymous SNV L261V 0.185 0.203 0.153 77 217 78 0.197 45 22 6 2 5 0.001 23777 chr16 84695490 84695490 C T rs12928590 KLHL36 Synonymous SNV H471H 0.193 0.141 0.129 58 226 54 0.149 38 21 4 1 2 13.58 23778 chr5 180166461 180166461 C G rs10464105 OR2Y1 Nonsynonymous SNV V200L 0.988 0.984 0.959 385 1160 378 0.987 282 573 186 135 190 6.19 23779 chr18 66542006 66542006 G T rs745894 CCDC102B Nonsynonymous SNV C346F 0.179 0.135 0.119 58 210 52 0.149 35 23 3 3 4 0.003 23780 chr5 180218668 180218668 A G rs634501 MGAT1 Nonsynonymous SNV L435P 0.703 0.732 0.704 253 825 281 0.649 207 288 101 73 82 1.965 23781 chr18 67345034 67345034 T C rs8099030 DOK6 Synonymous SNV D118D 0.817 0.81 0.833 307 959 311 0.787 245 389 130 103 116 6.71 23782 chr5 147011024 147011024 T C rs149911823 JAKMIP2 Synonymous SNV S588S 0.016 0.008 0.01 7 19 3 0.018 3 0 0 0 1 8.995 23783 chr18 67718688 67718688 A G rs4891392 RTTN Nonsynonymous SNV F849S 0.939 0.932 0.935 376 1102 358 0.964 275 519 166 130 182 Benign 0.561 23784 chr5 180276402 180276402 C T rs168726 ZFP62 Nonsynonymous SNV R698K 0.8 0.786 0.803 312 939 302 0.8 236 372 118 96 122 11.06 23785 chr18 67863850 67863850 - CTC rs58913700 RTTN G242_D243insG 0.997 1 0.99 389 1170 384 0.997 291 585 192 144 194 23786 chr16 773095 773095 C A CCDC78 Nonsynonymous SNV Q400H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.5 23787 chr5 180278393 180278393 C G rs705441 ZFP62 Star tloss M34I 0.781 0.779 0.786 312 917 299 0.8 231 356 117 90 123 0.471 23788 chr18 67871343 67871343 A C rs3911730 RTTN Nonsynonymous SNV S126A 0.9 0.865 0.922 355 1057 332 0.91 271 476 143 127 162 Benign 0.075 23789 chr16 89294798 89294798 A G rs118093429 ZNF778 Nonsynonymous SNV Y673C 0.049 0.031 0.061 24 57 12 0.062 18 2 0 1 0 23.4 23790 chr5 180338368 180338368 A G rs2276995 BTNL8 Nonsynonymous SNV T27A 0.301 0.362 0.354 149 353 139 0.382 104 50 27 20 25 0.002 23791 chr18 68003721 68003721 C A rs2279370 LINC01909 0 0 0.173 0 0 0 0 51 0 0 2 0 0.021 23792 chr18 6889973 6889973 A G rs4239328 ARHGAP28 Synonymous SNV P382P 0.603 0.607 0.622 223 708 233 0.572 183 212 75 56 70 10.16 23793 chr16 88498312 88498312 C T rs74032865 ZNF469 Synonymous SNV S1478S 0.023 0.039 0.01 5 27 15 0.013 3 0 1 0 0 Likely benign 13.5 23794 chr16 89345822 89345822 G C rs4785560 ANKRD11 Nonsynonymous SNV D2376E 0.057 0.055 0.007 21 67 21 0.054 2 7 2 0 1 Benign 0.015 23795 chr18 6890434 6890434 A G rs1116757 ARHGAP28 Synonymous SNV P421P 0.591 0.596 0.616 221 694 229 0.567 181 203 72 55 69 0.164 23796 chr5 180374523 180374523 G A rs7724813 BTNL8 Nonsynonymous SNV E113K 0.074 0.091 0.105 46 87 35 0.118 31 5 1 3 6 0.004 23797 chr16 89613123 89613123 A G rs2292954 SPG7 Nonsynonymous SNV T503A 0.218 0.253 0.201 78 256 97 0.2 59 30 12 6 7 Benign 14.07 23798 chr16 88498804 88498804 G A rs117310292 ZNF469 Synonymous SNV S1642S 0.023 0.039 0.01 5 27 15 0.013 3 0 1 0 0 Benign/Likely benign 8.181 23799 chr18 6912143 6912143 A C rs1056408 ARHGAP28 Nonsynonymous SNV Q568P 0.848 0.859 0.844 301 996 330 0.772 248 422 143 106 123 0.002 23800 chr16 81301571 81301571 A G rs7202895 BCO1 Synonymous SNV P226P 0.094 0.086 0.075 24 110 33 0.062 22 3 2 1 1 1.188 23801 chr5 180374534 180374534 G A rs3733756 BTNL8 Synonymous SNV S116S 0.338 0.393 0.384 174 397 151 0.446 113 67 32 23 40 5.057 23802 chr16 85690001 85690006 GAGCGT - rs145522531 GSE1 R247_E248del 0.044 0.034 0.051 20 52 13 0.051 15 2 0 1 1 23803 chr16 89620328 89620328 G A rs12960 SPG7 Nonsynonymous SNV R688Q 0.216 0.253 0.201 79 254 97 0.203 59 30 12 6 7 Benign 23.5 23804 chr18 691266 691266 A G rs2612086 ENOSF1 Nonsynonymous SNV M63T 0.291 0.286 0.33 110 342 110 0.282 97 50 16 18 16 6.825 23805 chr16 88500340 88500340 G A rs61472141 ZNF469 Synonymous SNV P2154P 0.049 0.073 0.027 17 58 28 0.044 8 1 2 0 0 Benign 7.45 23806 chr5 180376972 180376972 C G rs142207026 BTNL8 Nonsynonymous SNV H195D 0.187 0.234 0.218 78 219 90 0.2 64 67 28 18 23 4.987 23807 chr5 148207447 148207447 G C rs1042719 ADRB2 Synonymous SNV G351G 0.336 0.315 0.361 119 394 121 0.305 106 72 17 22 17 0.663 23808 chr16 88501034 88501034 G C rs12598474 ZNF469 Nonsynonymous SNV G2386R 0.276 0.281 0.276 101 324 108 0.259 81 38 16 13 13 Benign 1.281 23809 chr18 6928138 6928138 A G rs4798516 LINC00668 0 0 0.503 0 0 0 0 148 0 0 38 0 0.055 23810 chr16 89627460 89627460 T G rs2280370 RPL13 Synonymous SNV R31R 0.235 0.255 0.197 83 276 98 0.213 58 32 13 6 7 9.485 23811 chr5 148207633 148207633 G A rs1042720 ADRB2 Synonymous SNV L413L 0.373 0.354 0.408 128 438 136 0.328 120 88 23 28 22 0.375 23812 chr16 77465249 77465249 C G rs151326659 ADAMTS18 Nonsynonymous SNV Q146H 0.009 0.016 0.003 6 10 6 0.015 1 0 0 0 0 Likely benign 23.4 23813 chr5 180376974 180376974 T G rs146303629 BTNL8 Nonsynonymous SNV H195Q 0.187 0.234 0.218 78 219 90 0.2 64 67 28 18 23 0.005 23814 chr18 6928180 6928180 G T rs4797265 LINC00668 0 0 0.51 0 0 0 0 150 0 0 39 0 6.261 23815 chr16 815001 815001 C T rs776910001 MSLN Stop gain R159X 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 23816 chr16 89627671 89627671 C T rs174035 RPL13 Synonymous SNV A47A 0.226 0.258 0.221 83 265 99 0.213 65 29 11 6 7 18.58 23817 chr18 6943264 6943264 G A rs2016639 LAMA1 Synonymous SNV D2994D 0.283 0.318 0.333 123 332 122 0.315 98 46 22 15 24 7.183 23818 chr16 88501642 88501642 G A rs117149938 ZNF469 Synonymous SNV P2588P 0.016 0.026 0.02 8 19 10 0.021 6 0 0 0 0 Benign 8.332 23819 chr18 6956505 6956516 CAGCTCCAGCTC - rs11270496 LOC101927188 0 0 0.286 0 0 0 0 84 0 0 15 0 23820 chr16 89704365 89704365 G C rs1126464 DPEP1 Nonsynonymous SNV E351Q 0.155 0.19 0.207 71 182 73 0.182 61 10 6 9 7 2.65 23821 chr16 88501971 88501971 T A rs3812956 ZNF469 Nonsynonymous SNV L2698Q 0.275 0.276 0.272 99 323 106 0.254 80 40 15 12 14 Benign 0.004 23822 chr5 180377331 180377331 T C rs2278689 BTNL8 Synonymous SNV Y314Y 0.051 0.091 0.105 29 60 35 0.074 31 14 11 10 9 0.03 23823 chr18 6980523 6980523 T C rs607230 LAMA1 Nonsynonymous SNV K2002E 0.683 0.75 0.735 272 802 288 0.697 216 268 108 84 97 17.6 23824 chr16 72993622 72993622 C T rs62053190 ZFHX3 Synonymous SNV A141A 0.054 0.052 0.061 26 63 20 0.067 18 2 1 0 1 13.27 23825 chr5 180377470 180377470 G A rs113820381 BTNL8 Nonsynonymous SNV A361T 0.051 0.091 0.105 28 60 35 0.072 31 14 11 10 9 0.002 23826 chr16 88502090 88502090 G A rs3812955 ZNF469 Nonsynonymous SNV A2738T 0.023 0.039 0.01 5 27 15 0.013 3 0 1 0 0 Likely benign 2.925 23827 chr16 72993706 72993706 G A rs62053191 ZFHX3 Synonymous SNV A113A 0.049 0.049 0.058 26 57 19 0.067 17 2 1 0 1 6.527 23828 chr16 89715836 89715836 C T rs374925673 CHMP1A Nonsynonymous SNV R52K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 16.79 23829 chr18 6985631 6985631 C T rs617206 LAMA1 Synonymous SNV L1797L 0.382 0.401 0.395 160 448 154 0.41 116 92 31 26 34 8.002 23830 chr16 86565882 86565882 G C rs3751802 MTHFSD Nonsynonymous SNV S296C 0.157 0.143 0.126 63 184 55 0.162 37 15 4 1 5 7.696 23831 chr18 6986227 6986227 G A rs12607841 LAMA1 Nonsynonymous SNV A1763V 0.153 0.122 0.153 56 180 47 0.144 45 17 4 3 1 6.417 23832 chr5 180432416 180432416 C T rs7726150 BTNL3 Synonymous SNV P315P 0.411 0.461 0.425 182 483 177 0.467 125 103 43 25 44 7.94 23833 chr16 77775672 77775672 A G rs16946429 NUDT7 Nonsynonymous SNV E128G 0.07 0.047 0.058 16 82 18 0.041 17 3 0 0 1 21.7 23834 chr16 89764549 89764549 G A rs3751695 SPATA2L Synonymous SNV F156F 0.156 0.198 0.15 77 183 76 0.197 44 12 8 0 10 10.91 23835 chr5 180472498 180472498 C T rs28677846 BTNL9 Synonymous SNV D3D 0.481 0.513 0.493 204 565 197 0.523 145 141 52 34 56 9.178 23836 chr18 70209321 70209321 C A rs7237888 CBLN2 Synonymous SNV P25P 0.908 0.924 0.816 363 1066 355 0.931 240 493 168 113 171 19.56 23837 chr16 72993925 72993925 C T rs62053192 ZFHX3 Synonymous SNV E40E 0.051 0.049 0.061 27 60 19 0.069 18 2 1 0 1 8.703 23838 chr5 180472513 180472513 A G rs6894087 BTNL9 Synonymous SNV P8P 0.481 0.516 0.493 205 565 198 0.526 145 141 52 34 56 1.899 23839 chr16 89836323 89836323 C T rs7195066 FANCA Nonsynonymous SNV G809D 0.289 0.247 0.286 90 339 95 0.231 84 52 15 12 13 Benign 3.273 23840 chr18 70417396 70417396 C T rs922999 NETO1 Nonsynonymous SNV S481N 0.999 1 0.993 389 1173 384 0.997 292 586 192 145 194 15.34 23841 chr16 88504204 88504204 G C rs56236932 ZNF469 Nonsynonymous SNV R3442S 0.013 0.008 0.014 2 15 3 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 2.02 23842 chr16 731318 731318 G A rs148553428 STUB1 Nonsynonymous SNV S37N 0.009 0.013 0.003 1 10 5 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.15 23843 chr5 180486247 180486247 G T rs6601166 BTNL9 Synonymous SNV T331T 0.699 0.674 0.449 281 821 259 0.721 132 302 95 55 106 7.066 23844 chr5 149008467 149008467 C A rs3733662 ARHGEF37 Nonsynonymous SNV P586T 0.228 0.208 0.221 75 268 80 0.192 65 36 10 9 10 1.218 23845 chr18 70417409 70417409 C T rs12965824 NETO1 Nonsynonymous SNV V477I 0.032 0.042 0.037 9 37 16 0.023 11 0 2 1 0 20.6 23846 chr5 180486785 180486785 G C rs10068763 BTNL9 Nonsynonymous SNV G511R 0.659 0.638 0.69 244 774 245 0.626 203 262 77 72 72 0.002 23847 chr16 89849480 89849480 C T rs2239359 FANCA Nonsynonymous SNV G501S 0.336 0.365 0.381 147 394 140 0.377 112 69 26 27 27 Benign 0.069 23848 chr18 706558 706558 C T rs58085394 ENOSF1 Synonymous SNV S35S 0.144 0.138 0.15 62 169 53 0.159 44 15 3 4 7 15.2 23849 chr16 71956530 71956535 ATGCCT - rs773987805 IST1 M90_P91del 0.015 0.016 0.007 5 18 6 0.013 2 0 0 0 0 23850 chr5 180486841 180486841 C T rs10054109 BTNL9 Synonymous SNV D529D 0.47 0.427 0.466 170 552 164 0.436 137 137 34 32 36 6.773 23851 chr18 712568 712568 G A rs3786349 ENOSF1 Nonsynonymous SNV S7F 0.124 0.125 0.129 50 146 48 0.128 38 11 3 4 3 14.61 23852 chr16 8729106 8729106 G A rs371922604 METTL22 Nonsynonymous SNV G213R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 32 23853 chr16 89883007 89883007 A T rs1800282 FANCA Nonsynonymous SNV V6D 0.077 0.128 0.054 47 90 49 0.121 16 2 4 2 3 Benign 17.1 23854 chr5 180622615 180622615 C T rs254460 TRIM7 Nonsynonymous SNV G181S 0.201 0.232 0.177 92 236 89 0.236 52 27 13 6 12 5.005 23855 chr5 149200043 149200043 T C rs32588 PPARGC1B Synonymous SNV L42L 0.131 0.148 0.126 60 154 57 0.154 37 10 5 4 2 0.316 23856 chr18 71791732 71791732 C T rs370813408 FBXO15 Synonymous SNV S329S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 23857 chr16 89986144 89986144 C T rs1805008 MC1R Nonsynonymous SNV R160W 0.032 0.065 0.027 26 38 25 0.067 8 1 2 0 3 Conflicting interpretations of pathogenicity 24.5 23858 chr18 71928150 71928150 C T rs7238987 CYB5A Synonymous SNV P96P 0.101 0.102 0.092 28 119 39 0.072 27 2 3 1 1 11.47 23859 chr5 149212800 149212800 G A rs32577 PPARGC1B Synonymous SNV P349P 0.135 0.148 0.129 61 159 57 0.156 38 9 4 4 2 0.699 23860 chr5 180626927 180626927 A G rs416574 TRIM7 Nonsynonymous SNV V76A 0.369 0.396 0.361 156 433 152 0.4 106 81 30 19 34 0.008 23861 chr18 71959075 71959075 G A rs1051236 CYB5A Synonymous SNV Y12Y 0.1 0.102 0.088 27 117 39 0.069 26 2 3 1 1 10.48 23862 chr16 90015960 90015960 G C rs6500462 DEF8 Synonymous SNV G29G 0.06 0.094 0.054 31 70 36 0.079 16 5 2 1 4 0.507 23863 chr18 72021717 72021717 T C rs12606060 C18orf63 Nonsynonymous SNV L676P 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 1.143 23864 chr5 180631817 180631817 T C rs2545112 TRIM7 Synonymous SNV A98A 0.336 0.349 0.279 139 394 134 0.356 82 81 31 16 33 1.143 23865 chr18 72103782 72103782 T C rs2278154 DIPK1C Nonsynonymous SNV Q405R 0.395 0.393 0.418 153 464 151 0.392 123 101 33 25 25 0.04 23866 chr5 180631828 180631828 G C rs2770945 TRIM7 Nonsynonymous SNV Q95E 0.211 0.208 0.167 89 248 80 0.228 49 33 15 3 15 17.65 23867 chr16 929711 929711 C T rs2076425 LMF1 Synonymous SNV A143A 0.078 0.068 0.095 18 91 26 0.046 28 3 1 2 1 12.35 23868 chr16 88594540 88594542 GAA - rs10606433 ZFPM1 K204del 0.061 0.036 0.024 15 72 14 0.038 7 2 0 0 1 23869 chr16 84012104 84012104 T C rs925331 NECAB2 Nonsynonymous SNV L20S 0.149 0.154 0.163 63 175 59 0.162 48 9 5 3 6 0.967 23870 chr18 72109211 72109211 C T rs77302402 DIPK1C Synonymous SNV A339A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.96 23871 chr5 180661256 180661256 G C rs185272 TRIM41 Synonymous SNV R458R 0.074 0.07 0.061 22 87 27 0.056 18 3 0 1 1 7.044 23872 chr18 72114455 72114455 C T rs8087020 DIPK1C Nonsynonymous SNV E88K 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.959 23873 chr6 311938 311938 C T rs11242786 DUSP22 Synonymous SNV H38H 0.085 0.115 0.116 39 100 44 0.1 34 0 0 0 0 18.86 23874 chr18 72223591 72223591 - TGC rs10663835 CNDP1 L20_E21insL 0.302 0.281 0.303 132 354 108 0.338 89 51 15 12 20 23875 chr17 10209778 10209778 G A rs116935297 MYH13 Nonsynonymous SNV R1822W 0.021 0.026 0.027 6 25 10 0.015 8 0 0 0 0 32 23876 chr6 348906 348906 G A rs11242812 DUSP22 Synonymous SNV P191P 0.474 0.484 0.48 189 557 186 0.485 141 0 0 0 0 1.731 23877 chr16 840389 840389 A C CHTF18 Nonsynonymous SNV T248P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 23878 chr18 72228124 72228124 A G rs4263028 CNDP1 Nonsynonymous SNV I113V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 23879 chr5 149450132 149450132 T C rs10079250 CSF1R Nonsynonymous SNV H362R 0.074 0.089 0.071 26 87 34 0.067 21 3 4 1 2 Benign 10.33 23880 chr6 350829 350829 G A rs1129085 DUSP22 Synonymous SNV P172P 0.381 0.398 0.374 146 447 153 0.374 110 8 0 2 2 11.59 23881 chr17 10216510 10216510 G A rs4791401 MYH13 Synonymous SNV D1382D 0.347 0.367 0.323 135 407 141 0.346 95 70 22 20 25 11.7 23882 chr16 75642801 75642801 G A rs77029992 ADAT1 Nonsynonymous SNV R290C 0.013 0.005 0.003 6 15 2 0.015 1 0 0 0 0 25.6 23883 chr18 72234635 72234635 C T rs12960862 CNDP1 Synonymous SNV Y241Y 0.597 0.576 0.673 233 701 221 0.597 198 217 63 64 67 7.732 23884 chr17 10223714 10223714 T C rs2074877 MYH13 Nonsynonymous SNV M1071V 0.589 0.591 0.507 225 692 227 0.577 149 199 66 43 61 15.33 23885 chr6 656143 656143 C A rs1211554 HUS1B Nonsynonymous SNV D268Y 0.833 0.81 0.796 317 978 311 0.813 234 405 124 94 130 24.4 23886 chr18 72238472 72238472 C A rs73973908 CNDP1 Nonsynonymous SNV H270N 0.115 0.125 0.109 40 135 48 0.103 32 12 6 1 3 5.596 23887 chr16 841238 841238 G A rs151271197 CHTF18 Synonymous SNV K324K 0.01 0.01 0.014 3 12 4 0.008 4 0 0 0 0 Benign 6.321 23888 chr17 10212964 10212964 C G rs35069886 MYH13 Nonsynonymous SNV D1614H 0.009 0.01 0.01 6 10 4 0.015 3 0 0 0 0 27.2 23889 chr16 72821626 72821626 - GCCGCCGCCACT ZFHX3 G2602_G2603insSGGG 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23890 chr17 10231417 10231417 C T rs2277644 MYH13 Synonymous SNV Q819Q 0.254 0.203 0.235 106 298 78 0.272 69 39 13 3 9 14.25 23891 chr18 72264397 72264397 A C rs7505285 LINC00909 0 0 0.769 0 0 0 0 226 0 0 94 0 0.871 23892 chr6 1313117 1313117 A C rs9502889 FOXQ1 Nonsynonymous SNV T60P 0.947 0.964 0.918 368 1112 370 0.944 270 549 185 133 182 0.129 23893 chr18 72264406 72264406 A G rs7505289 LINC00909 0 0 0.827 0 0 0 0 243 0 0 105 0 3.601 23894 chr17 10243717 10243717 G A rs3760423 MYH13 Synonymous SNV G632G 0.801 0.839 0.789 328 940 322 0.841 232 374 135 97 139 14.15 23895 chr18 72264473 72264473 C T rs7505334 LINC00909 0 0 0.793 0 0 0 0 233 0 0 94 0 0.995 23896 chr16 76555177 76555177 A T rs112577515 CNTNAP4 Nonsynonymous SNV I707F 0.008 0.021 0 5 9 8 0.013 0 0 0 0 0 28 23897 chr16 87742977 87742977 A G rs141807379 KLHDC4 Synonymous SNV Y390Y 0.011 0.005 0 5 13 2 0.013 0 0 0 0 0 0.175 23898 chr18 72343008 72343008 T C rs7243081 ZNF407 Synonymous SNV D11D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 Likely benign 0.011 23899 chr5 149546866 149546866 G A rs539576362 CDX1 Nonsynonymous SNV G143R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 22.1 23900 chr17 10247199 10247199 G A rs12938754 MYH13 Synonymous SNV N604N 0.31 0.281 0.303 124 364 108 0.318 89 53 13 16 20 7.937 23901 chr6 1313121 1313121 A C rs9502890 FOXQ1 Nonsynonymous SNV Q61P 0.948 0.969 0.905 372 1113 372 0.954 266 550 186 131 184 0.003 23902 chr18 72343156 72343156 A G rs75994611 ZNF407 Nonsynonymous SNV S61G 0.033 0.029 0.034 16 39 11 0.041 10 2 1 0 1 Benign 0.01 23903 chr17 10236465 10236465 G A rs2240579 MYH13 Synonymous SNV N700N 0.525 0.604 0.537 213 616 232 0.546 158 164 67 36 56 13.4 23904 chr17 10296486 10296486 G A rs33969260 MYH8 Synonymous SNV D1736D 0.268 0.26 0.279 93 315 100 0.238 82 33 14 15 11 Benign 7.686 23905 chr16 81204576 81204576 C T rs74595131 PKD1L2 Nonsynonymous SNV R276Q 0.02 0.021 0.01 4 24 8 0.01 3 0 0 0 0 5.951 23906 chr16 88110238 88110238 C T rs762644063 BANP Nonsynonymous SNV L458F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 29 23907 chr6 1391085 1391085 - GGC rs111257067 FOXF2 G306_D307insG 0.589 0.602 0.561 225 692 231 0.577 165 200 67 53 61 23908 chr18 72776121 72776121 G A rs3744913 ZNF407 Synonymous SNV T2148T 0.827 0.849 0.84 306 971 326 0.785 247 398 140 103 119 Likely benign 14.74 23909 chr6 1612017 1612017 - CGG rs398123612 FOXC1 G456_Q457insG 0.211 0.227 0.156 91 248 87 0.233 46 21 11 2 10 23910 chr18 72998004 72998004 T C rs3744908 TSHZ1 Synonymous SNV Y214Y 0.468 0.482 0.459 185 549 185 0.474 135 121 45 36 43 Benign 0.001 23911 chr6 1742794 1742794 A G rs3734739 GMDS Synonymous SNV D236D 0.499 0.482 0.493 177 586 185 0.454 145 143 47 33 40 3.383 23912 chr18 72998268 72998268 T C rs3744909 TSHZ1 Synonymous SNV D302D 0.468 0.479 0.459 185 549 184 0.474 135 121 44 36 43 Benign 0.013 23913 chr17 10346781 10346781 T C rs3744554 MYH4 Nonsynonymous SNV K1911E 0.424 0.464 0.435 168 498 178 0.431 128 98 40 29 32 6.443 23914 chr6 2766144 2766144 T C rs17851692 WRNIP1 Synonymous SNV G96G 0.214 0.25 0.241 89 251 96 0.228 71 70 31 25 20 5.348 23915 chr18 72998526 72998526 G A rs34095753 TSHZ1 Synonymous SNV P388P 0.069 0.076 0.051 28 81 29 0.072 15 2 0 0 2 Benign 0.557 23916 chr17 10304500 10304500 C T rs3744553 MYH8 Synonymous SNV G1039G 0.069 0.057 0.054 22 81 22 0.056 16 3 1 1 2 Benign 10.56 23917 chr18 72998886 72998886 T C rs3809997 TSHZ1 Synonymous SNV P508P 0.468 0.482 0.466 186 549 185 0.477 137 121 44 38 43 Benign 0.002 23918 chr16 72992443 72992443 G A rs62640008 ZFHX3 Synonymous SNV P534P 0.053 0.049 0.024 12 62 19 0.031 7 2 0 0 0 0.582 23919 chr6 2955802 2955802 T C rs2295769 SERPINB6 Nonsynonymous SNV M104V 0.277 0.328 0.32 108 325 126 0.277 94 44 23 13 14 Benign 0.066 23920 chr18 74090958 74090958 G - rs398033573 ZNF516 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 23921 chr17 10310246 10310246 G A rs12936716 MYH8 Synonymous SNV F672F 0.069 0.055 0.075 21 81 21 0.054 22 4 1 1 1 Benign 12.56 23922 chr17 10348354 10348354 T C rs2277649 MYH4 Nonsynonymous SNV D1802G 0.351 0.404 0.35 146 412 155 0.374 103 68 26 20 26 22.3 23923 chr16 88781040 88781040 A G rs8059048 CTU2 Nonsynonymous SNV Q329R 0.169 0.172 0.18 74 198 66 0.19 53 17 9 6 8 2.171 23924 chr18 74208486 74208486 G - rs3841258 C18orf65 0.771 0.779 0.796 300 905 299 0.769 234 351 118 92 117 23925 chr17 10312472 10312472 G A rs34693726 MYH8 Nonsynonymous SNV A636V 0.07 0.055 0.075 21 82 21 0.054 22 4 1 1 1 Benign 21.8 23926 chr18 74208573 74208573 G A rs4891164 C18orf65 0.993 0.984 0.98 385 1166 378 0.987 288 579 186 142 190 1.079 23927 chr6 2959513 2959513 C T rs2236277 SERPINB6 Synonymous SNV T32T 0.416 0.391 0.354 156 488 150 0.4 104 104 34 22 34 Benign 19.08 23928 chr18 74270010 74270010 A G rs7233958 LINC00908 0 0 0.99 0 0 0 0 291 0 0 144 0 0.006 23929 chr17 10355371 10355371 C T rs11651295 MYH4 Nonsynonymous SNV E1209K 0.394 0.424 0.391 152 462 163 0.39 115 83 32 23 23 28.5 23930 chr16 84432176 84432176 G A rs4782948 ATP2C2 Synonymous SNV A57A 0.061 0.049 0.078 32 72 19 0.082 23 3 0 1 1 4.658 23931 chr5 149754226 149754226 C T rs189476787 TCOF1 Nonsynonymous SNV P300L 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 24.7 23932 chr18 74270044 74270044 T G rs8093215 LINC00908 0 0 0.544 0 0 0 0 160 0 0 39 0 2.459 23933 chr6 3010390 3010390 C T rs1143684 NQO2 Nonsynonymous SNV L47F 0.668 0.698 0.694 266 784 268 0.682 204 264 93 70 91 9.9 23934 chr18 74611127 74611127 A G rs608433 ZNF236 Nonsynonymous SNV I615V 0.924 0.938 0.915 365 1085 360 0.936 269 499 169 124 171 0.001 23935 chr17 10355763 10355763 T C rs917361 MYH4 Nonsynonymous SNV I1106M 0.418 0.464 0.435 168 491 178 0.431 128 98 40 29 32 8.55 23936 chr5 149754991 149754991 C T rs2071238 TCOF1 Synonymous SNV P449P 0.12 0.096 0.105 40 141 37 0.103 31 11 2 3 2 Benign 12.57 23937 chr18 74671768 74671768 T C rs470403 ZNF236 Synonymous SNV H1746H 0.706 0.693 0.65 287 829 266 0.736 191 289 87 62 105 2.166 23938 chr6 3012778 3012778 G A rs17300141 NQO2 Nonsynonymous SNV G58D 0.027 0.049 0.027 15 32 19 0.038 8 0 0 0 0 10.95 23939 chr5 149755340 149755340 G T rs7701163 TCOF1 Synonymous SNV G510G 0.073 0.057 0.065 20 86 22 0.051 19 6 0 1 1 Benign 1.54 23940 chr18 74680259 74680259 C T rs657066 ZNF236 Synonymous SNV A1836A 0.963 0.966 0.939 372 1131 371 0.954 276 552 181 131 181 14.04 23941 chr17 10363410 10363410 A G rs3744561 MYH4 Synonymous SNV N425N 0.424 0.464 0.439 168 498 178 0.431 129 98 40 29 32 0.014 23942 chr5 149755421 149755421 A G rs2071239 TCOF1 Synonymous SNV S537S 0.119 0.096 0.126 41 140 37 0.105 37 11 2 3 2 Benign 6.875 23943 chr18 74728800 74728800 C G rs138484926 MBP Synonymous SNV R55R 0.019 0.023 0.017 9 22 9 0.023 5 0 0 0 1 12.87 23944 chr6 3015790 3015790 A G rs1049115 NQO2 Synonymous SNV P110P 0.576 0.581 0.582 222 676 223 0.569 171 196 67 48 63 9.754 23945 chr18 74962645 74962645 T C rs5374 GALR1 Synonymous SNV G47G 0.727 0.721 0.69 290 853 277 0.744 203 305 100 74 103 3.211 23946 chr5 149759096 149759096 T C rs7713638 TCOF1 Nonsynonymous SNV V810A 0.119 0.096 0.126 41 140 37 0.105 37 11 2 3 2 Benign 0.001 23947 chr6 3019654 3019654 T C rs4149370 HTATSF1P2 0.576 0.583 0.578 222 676 224 0.569 170 196 67 47 63 1.69 23948 chr17 10427924 10427924 G A rs1042236 MYH2 Synonymous SNV A1678A 0.142 0.195 0.194 74 167 75 0.19 57 13 4 2 7 Benign 7.306 23949 chr18 74980809 74980809 G A rs5376 GALR1 Nonsynonymous SNV S334N 0.999 0.997 0.98 387 1173 383 0.992 288 586 191 141 192 0.139 23950 chr6 3077141 3077141 T C rs2272990 RIPK1 Synonymous SNV F28F 0.928 0.948 0.942 367 1089 364 0.941 277 505 172 131 172 7.489 23951 chr17 10448769 10448769 A T rs11078850 MYH2 Synonymous SNV P133P 0.445 0.495 0.459 179 523 190 0.459 135 117 40 30 34 Benign 0.027 23952 chr5 149763305 149763305 A G rs7715100 TCOF1 Nonsynonymous SNV Q955R 0.091 0.076 0.126 37 107 29 0.095 37 10 2 3 3 1.063 23953 chr6 3264487 3264487 T C rs4959786 PSMG4 Nonsynonymous SNV W99R 0.765 0.745 0.769 296 898 286 0.759 226 346 105 85 113 0.003 23954 chr18 76753588 76753588 A G rs7240860 SALL3 Nonsynonymous SNV T533A 0.858 0.883 0.895 344 1007 339 0.882 263 434 148 117 155 7.057 23955 chr17 10360854 10360854 C T rs12949680 MYH4 Nonsynonymous SNV A594T 0.069 0.055 0.082 21 81 21 0.054 24 4 1 1 1 0.006 23956 chr17 10450816 10450816 T C rs12600539 MYH2 Synonymous SNV E108E 0.457 0.508 0.476 183 536 195 0.469 140 121 43 35 36 Benign 0.32 23957 chr6 3264502 3264502 G C rs4959787 PSMG4 Nonsynonymous SNV G104R 0.765 0.745 0.769 296 898 286 0.759 226 346 105 85 113 14.77 23958 chr18 76753768 76753768 C G rs2447437 SALL3 Nonsynonymous SNV L593V 0.875 0.901 0.925 352 1027 346 0.903 272 451 154 126 161 0.005 23959 chr17 10404046 10404046 G A rs17811250 MYH1 Synonymous SNV R1254R 0.206 0.169 0.207 66 242 65 0.169 61 18 6 7 8 11.23 23960 chr6 3264526 3264526 C T rs4959788 PSMG4 Nonsynonymous SNV L112F 0.761 0.745 0.762 295 894 286 0.756 224 343 105 84 112 0.033 23961 chr5 149826526 149826526 C T rs4841 RPS14 Synonymous SNV K50K 0.244 0.24 0.248 127 286 92 0.326 73 29 9 9 23 16.26 23962 chr16 88500430 88500430 G T rs12919507 ZNF469 Synonymous SNV T2184T 0.098 0.112 0.136 51 115 43 0.131 40 5 6 4 4 Benign/Likely benign 1.652 23963 chr18 76754466 76754466 C T rs2472644 SALL3 Synonymous SNV Y825Y 0.875 0.904 0.925 352 1027 347 0.903 272 451 155 126 161 0.914 23964 chr18 76754584 76754584 G A rs139777889 SALL3 Nonsynonymous SNV V865M 0.009 0.013 0.024 2 10 5 0.005 7 0 0 0 0 0.01 23965 chr16 88501386 88501386 C A rs141218390 ZNF469 Nonsynonymous SNV A2503E 0.083 0.104 0.119 46 98 40 0.118 35 5 4 4 5 Benign/Likely benign 11.27 23966 chr17 10432947 10432947 C T MYH2 Synonymous SNV Q1017Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.182 23967 chr16 88803124 88803124 T C rs13333358 PIEZO1 Nonsynonymous SNV R407G 0.294 0.318 0.32 140 345 122 0.359 94 57 17 18 30 Benign 1.829 23968 chr6 3264527 3264527 T C rs4959789 PSMG4 Nonsynonymous SNV L112P 0.765 0.745 0.769 295 898 286 0.756 226 346 105 85 112 0.114 23969 chr18 77067000 77067000 T G rs3760541 ATP9B Synonymous SNV A513A 0.475 0.464 0.493 181 558 178 0.464 145 132 40 34 39 11.99 23970 chr18 77171061 77171061 T G rs2230112 NFATC1 Synonymous SNV P262P 0.732 0.682 0.643 255 859 262 0.654 189 317 94 59 83 0.005 23971 chr17 10542886 10542886 T C rs2285472 MYH3 Synonymous SNV T972T 0.648 0.667 0.415 268 761 256 0.687 122 240 80 53 88 Benign 0.054 23972 chr6 3273457 3273457 A G rs9503518 SLC22A23 Synonymous SNV S350S 0.107 0.117 0.082 38 126 45 0.097 24 7 2 2 3 6.073 23973 chr18 77211764 77211764 T C rs15350 NFATC1 Synonymous SNV S145S 0.196 0.247 0.265 78 230 95 0.2 78 17 16 9 6 3.882 23974 chr18 77227476 77227476 A G rs25656 NFATC1 Synonymous SNV P190P 0.296 0.315 0.323 112 348 121 0.287 95 44 26 15 12 0.036 23975 chr16 88504396 88504396 G A rs376379111 ZNF469 Synonymous SNV P3506P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.824 23976 chr6 3287118 3287118 T C rs6910086 SLC22A23 Synonymous SNV S226S 0.93 0.914 0.912 351 1092 351 0.9 268 508 161 122 157 7.882 23977 chr16 778158 778158 C G rs1406815 HAGHL Synonymous SNV P71P 0.028 0.005 0.071 12 33 2 0.031 21 14 0 5 4 9.812 23978 chr18 77246406 77246406 T G rs754093 NFATC1 Nonsynonymous SNV C279G 0.611 0.565 0.561 213 717 217 0.546 165 225 65 48 55 14.75 23979 chr16 75018874 75018874 G A rs12448858 WDR59 Synonymous SNV F14F 0.096 0.099 0.088 31 113 38 0.079 26 4 2 1 0 12.71 23980 chr6 3727811 3727811 C G rs226959 PXDC1 Nonsynonymous SNV Q184H 0.653 0.612 0.673 238 767 235 0.61 198 244 79 68 71 18.61 23981 chr16 88804349 88804349 G T rs112081600 PIEZO1 Nonsynonymous SNV S338Y 0.053 0.055 0.065 12 62 21 0.031 19 1 1 2 0 Benign 10.86 23982 chr18 77420703 77420703 C G rs868678 LOC284241 0 0 0.799 0 0 0 0 235 0 0 93 0 0.475 23983 chr17 10541741 10541741 A G rs201626 MYH3 Synonymous SNV I1116I 0.124 0.125 0.071 44 145 48 0.113 21 12 2 2 1 Benign 6.501 23984 chr16 88804618 88804618 G A rs8060643 LOC100289580 0.152 0.13 0.17 68 178 50 0.174 50 15 4 4 10 2.793 23985 chr6 4069166 4069166 C T rs595413 FAM217A Nonsynonymous SNV V431I 0.78 0.773 0.81 299 916 297 0.767 238 357 112 97 114 7.007 23986 chr18 77473127 77473127 C T rs2279103 CTDP1 Nonsynonymous SNV T221M 0.115 0.07 0.153 45 135 27 0.115 45 11 1 2 3 Benign 10.18 23987 chr17 1131535 1131535 T A rs34309560 ABR Nonsynonymous SNV Q299L 0.166 0.208 0 73 195 80 0.187 0 17 8 0 5 9.711 23988 chr5 150565008 150565008 C T rs248427 CCDC69 Nonsynonymous SNV R197K 0.506 0.536 0.456 198 594 206 0.508 134 154 61 33 48 10.51 23989 chr6 4116262 4116262 G A rs7166 ECI2 Nonsynonymous SNV A314V 0.34 0.326 0.293 145 399 125 0.372 86 65 24 16 24 23.1 23990 chr18 77513721 77513721 T C rs626169 CTDP1 Synonymous SNV D820D 0.988 0.987 0.99 383 1160 379 0.982 291 573 187 144 188 Benign 8.095 23991 chr17 11511457 11511457 C T rs11078022 DNAH9 Synonymous SNV P143P 0.46 0.469 0.493 155 540 180 0.397 145 114 39 37 31 Benign 12.23 23992 chr18 77728135 77728135 G T rs2298645 HSBP1L1 Nonsynonymous SNV K55N 0.751 0.768 0.724 288 882 295 0.738 213 329 111 76 115 0.019 23993 chr16 88805183 88805183 G A rs7185630 LOC100289580 0.14 0.13 0.156 72 164 50 0.185 46 13 5 4 11 0.192 23994 chr5 150592349 150592349 G A rs771465790 LOC105378230 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.003 23995 chr6 4122249 4122249 C A rs643232 C6orf201 Nonsynonymous SNV N117K 0.336 0.328 0.316 143 395 126 0.367 93 65 24 16 24 0.057 23996 chr16 75485625 75485625 C T rs117792763 TMEM170A Nonsynonymous SNV M44I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.11 23997 chr16 88805231 88805231 G A rs12443723 LOC100289580 0.147 0.133 0.167 72 173 51 0.185 49 15 5 5 11 3.338 23998 chr18 77805949 77805949 A C rs3744873 RBFA Nonsynonymous SNV K276Q 0.299 0.294 0.272 105 351 113 0.269 80 54 13 14 16 1.471 23999 chr16 88805236 88805236 G A rs7185664 LOC100289580 0.144 0.13 0.16 71 169 50 0.182 47 14 5 5 11 7.076 24000 chr6 4133855 4133855 C T rs3177253 ECI2 Nonsynonymous SNV M17I 0.277 0.273 0.279 117 325 105 0.3 82 40 17 15 12 17.77 24001 chr16 88807896 88807896 G A rs7404939 PIEZO1 Nonsynonymous SNV P152L 0.129 0.107 0.088 20 152 41 0.051 26 14 4 2 1 Benign 4.975 24002 chr18 77894844 77894844 G A rs3744877 ADNP2 Synonymous SNV P516P 0.4 0.419 0.371 144 470 161 0.369 109 99 31 24 23 0.292 24003 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGG MYH3 Stop gain G203Rfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 24004 chr18 77926795 77926795 - ACAAATAAC rs11275834 PARD6G-AS1 0 0 0.228 0 0 0 0 67 0 0 10 0 24005 chr16 75642772 75642772 A G rs74027441 ADAT1 Synonymous SNV D299D 0.024 0.018 0.041 9 28 7 0.023 12 0 0 0 0 0.992 24006 chr16 787316 787316 C T rs145443437 CIAO3 Nonsynonymous SNV R59Q 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 4.555 24007 chr17 11651057 11651057 A G rs3744581 DNAH9 Nonsynonymous SNV N2195S 0.279 0.271 0.272 101 327 104 0.259 80 43 13 10 14 Benign 23.1 24008 chr18 77926862 77926862 G A rs72978384 PARD6G-AS1 0 0 0.252 0 0 0 0 74 0 0 12 0 0.599 24009 chr6 5086070 5086070 A G rs667752 PPP1R3G Synonymous SNV A117A 1 0.995 0.963 389 1174 382 0.997 283 587 191 141 194 0.271 24010 chr18 77927028 77927028 A G rs1879105 PARD6G-AS1 0 0 0.765 0 0 0 0 225 0 0 91 0 4.178 24011 chr6 5086211 5086211 G C rs584962 PPP1R3G Synonymous SNV L164L 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 7.831 24012 chr18 77927112 77927112 G A rs4239348 PARD6G-AS1 0 0 0.616 0 0 0 0 181 0 0 78 0 0.587 24013 chr17 11501856 11501856 - CGCGGATGGGGAACCCGGCGCCGAC rs761517350 DNAH9 Frameshift insertion R24Gfs*36 0.02 0.034 0 6 23 13 0.015 0 0 1 0 0 24014 chr17 11725337 11725337 C T rs117790039 DNAH9 Synonymous SNV N2936N 0.04 0.039 0.031 21 47 15 0.054 9 1 0 0 0 10.33 24015 chr6 5086558 5086558 C A rs436556 PPP1R3G Nonsynonymous SNV P280Q 0.823 0.836 0.782 312 966 321 0.8 230 398 133 86 124 6.717 24016 chr18 8069868 8069868 C T rs2230601 PTPRM Synonymous SNV N439N 0.441 0.401 0.425 181 518 154 0.464 125 113 35 26 39 9.666 24017 chr16 85834818 85834818 G A rs11557187 COX4I1 Nonsynonymous SNV A3T 0.042 0.057 0.034 10 49 22 0.026 10 2 0 1 0 22.8 24018 chr18 8253322 8253322 G A PTPRM Synonymous SNV Q875Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.356 24019 chr17 1174094 1174094 A G rs3951819 BHLHA9 Synonymous SNV L79L 0.236 0.219 0.207 84 277 84 0.215 61 30 8 5 10 7.115 24020 chr18 8387195 8387195 G A rs593978 PTPRM Synonymous SNV E1377E 0.776 0.789 0.701 306 911 303 0.785 206 351 117 71 121 2.758 24021 chr6 5260936 5260936 A C rs2224391 LYRM4 Nonsynonymous SNV S11A 0.283 0.302 0.255 112 332 116 0.287 75 43 13 10 17 Benign 22.4 24022 chr18 8387219 8387219 G C rs593950 PTPRM Synonymous SNV T1385T 0.796 0.799 0.728 312 935 307 0.8 214 372 119 78 125 0.822 24023 chr17 11757556 11757556 C G rs12449553 DNAH9 Synonymous SNV P3248P 0.431 0.458 0.401 157 506 176 0.403 118 110 43 21 33 Benign 4.004 24024 chr16 76569456 76569456 A C CNTNAP4 Synonymous SNV R795R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.966 24025 chr18 8784370 8784370 A T rs918272 MTCL1 Nonsynonymous SNV E420D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.001 24026 chr6 6174866 6174866 G A rs5982 F13A1 Nonsynonymous SNV P565L 0.244 0.245 0.224 80 287 94 0.205 66 33 7 4 10 Conflicting interpretations of pathogenicity 11.14 24027 chr18 8798185 8798185 G A rs12386117 MTCL1 Nonsynonymous SNV G778S 0.151 0.146 0.133 60 177 56 0.154 39 16 1 5 5 10.34 24028 chr6 6318795 6318795 C A rs5985 F13A1 Nonsynonymous SNV V35L 0.198 0.208 0.167 88 233 80 0.226 49 27 8 5 9 Conflicting interpretations of pathogenicity 0.547 24029 chr18 8825192 8825192 A G rs581894 MTCL1 Synonymous SNV G1228G 0.595 0.612 0.609 250 699 235 0.641 179 216 74 60 73 0.488 24030 chr16 87344761 87344761 G A rs777146365 C16orf95 Stop gain Q158X 0.004 0 0 0 5 0 0 0 0 0 0 0 35 24031 chr18 907675 907675 G A rs8192597 ADCYAP1 Synonymous SNV A42A 0.604 0.62 0.639 238 709 238 0.61 188 217 78 66 76 15.04 24032 chr16 82182354 82182354 G A rs3751865 MPHOSPH6 Synonymous SNV F155F 0.162 0.148 0.133 70 190 57 0.179 39 14 5 1 4 10.52 24033 chr18 907710 907710 A G rs2856966 ADCYAP1 Nonsynonymous SNV D54G 0.302 0.292 0.31 117 355 112 0.3 91 60 20 16 22 11.62 24034 chr6 7229346 7229346 T C rs2714315 RREB1 Synonymous SNV H338H 0.292 0.286 0.282 141 343 110 0.362 83 51 15 8 29 0.002 24035 chr17 11865462 11865462 G A rs1990236 DNAH9 Nonsynonymous SNV M686I 0.171 0.201 0.194 65 201 77 0.167 57 21 9 3 5 Benign 24.6 24036 chr18 9221883 9221883 C G rs2298548 ANKRD12 Nonsynonymous SNV P254A 0.08 0.06 0.051 19 94 23 0.049 15 2 1 1 2 14.7 24037 chr6 7230680 7230680 G T rs9502564 RREB1 Nonsynonymous SNV G783V 0.293 0.279 0.289 112 344 107 0.287 85 54 9 11 14 14.42 24038 chr16 88902183 88902183 G A rs1064315 GALNS Synonymous SNV H51H 0.255 0.221 0.293 89 299 85 0.228 86 36 13 13 10 Benign 3.089 24039 chr17 11881356 11881356 G A rs117755721 ZNF18 Nonsynonymous SNV S523L 0.008 0.016 0.017 2 9 6 0.005 5 0 0 0 0 19.11 24040 chr18 9258531 9258531 C T rs3744823 ANKRD12 Synonymous SNV L1733L 0.08 0.06 0.051 19 94 23 0.049 15 2 1 1 2 10.21 24041 chr6 7247248 7247248 T C rs2256596 RREB1 Nonsynonymous SNV L1467P 0.621 0.628 0.609 265 729 241 0.679 179 226 77 51 90 0.132 24042 chr18 9258537 9258537 T C rs3744822 ANKRD12 Nonsynonymous SNV S1735P 0.08 0.06 0.051 19 94 23 0.049 15 2 1 1 2 4.213 24043 chr17 12852459 12852459 A G rs2072254 ARHGAP44 Synonymous SNV G88G 0.073 0.078 0.078 22 86 30 0.056 23 2 6 1 0 13.43 24044 chr6 7373434 7373434 C G rs34744890 CAGE1 Nonsynonymous SNV V404L 0.022 0.018 0.02 9 26 7 0.023 6 0 0 0 0 14.29 24045 chr17 12862170 12862170 C T rs3213687 ARHGAP44 Synonymous SNV S293S 0.081 0.086 0.068 26 95 33 0.067 20 4 6 0 2 10.88 24046 chr18 9275542 9275542 C T rs59633812 ANKRD12 Synonymous SNV N1905N 0.074 0.06 0.051 22 87 23 0.056 15 2 1 1 2 15.46 24047 chr17 11894428 11894428 G A rs139692409 ZNF18 Nonsynonymous SNV P147L 0.04 0.031 0.031 5 47 12 0.013 9 1 0 1 0 22.3 24048 chr17 12898295 12898295 T C rs17552022 ELAC2 Synonymous SNV T591T 0.182 0.164 0.17 72 214 63 0.185 50 17 8 4 6 Benign 1.581 24049 chr18 9275563 9275563 T G rs17499116 ANKRD12 Synonymous SNV V1912V 0.078 0.06 0.051 19 92 23 0.049 15 2 1 1 2 10.09 24050 chr6 7387236 7387236 G A rs9406026 CAGE1 Synonymous SNV T57T 0.386 0.341 0.378 150 453 131 0.385 111 84 26 22 34 9.256 24051 chr17 12899963 12899963 T C rs11545302 ELAC2 Synonymous SNV T480T 0.303 0.273 0.313 132 356 105 0.338 92 46 13 15 18 Benign 8.01 24052 chr18 9570320 9570320 T C rs329003 PPP4R1 Nonsynonymous SNV I470V 0.173 0.174 0.119 66 203 67 0.169 35 18 4 2 7 3.862 24053 chr17 11984829 11984829 G A rs55763083 MAP2K4 Synonymous SNV G125G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.877 24054 chr6 7393452 7393452 C T rs2274212 RIOK1 Synonymous SNV D64D 0.553 0.602 0.565 203 649 231 0.521 166 180 71 43 59 13.21 24055 chr17 12915009 12915009 G A rs4792311 ELAC2 Nonsynonymous SNV S217L 0.302 0.271 0.313 134 355 104 0.344 92 46 12 15 20 Benign 10.6 24056 chr5 150901601 150901601 C T rs142353390 FAT2 Nonsynonymous SNV R3518H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 10.1 24057 chr18 9887394 9887394 C T rs2240910 TXNDC2 Synonymous SNV A306A 0.414 0.414 0.381 164 486 159 0.421 112 96 32 25 36 11.42 24058 chr6 7563983 7563983 T G rs2806234 DSP Synonymous SNV A247A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Likely benign 1.09 24059 chr18 9887497 9887497 G A rs11081510 TXNDC2 Nonsynonymous SNV E341K 0.68 0.695 0.67 273 798 267 0.7 197 265 92 67 99 2.391 24060 chr6 7572262 7572262 A G rs2076304 DSP Synonymous SNV G697G 0.787 0.773 0.793 310 924 297 0.795 233 361 115 88 123 Benign 7.815 24061 chr18 9887546 9887546 G A rs2240906 TXNDC2 Nonsynonymous SNV G357D 0.336 0.349 0.34 140 395 134 0.359 100 63 23 15 24 0.172 24062 chr6 7576527 7576527 G A rs1016835 DSP Synonymous SNV R877R 0.825 0.823 0.796 321 968 316 0.823 234 397 130 95 133 Benign 6.648 24063 chr5 150914184 150914184 A T rs1432643 FAT2 Synonymous SNV T3071T 0.612 0.612 0.578 218 718 235 0.559 170 220 67 51 66 4.054 24064 chr6 7584617 7584617 C T rs2076300 DSP Synonymous SNV T1775T 0.386 0.391 0.364 152 453 150 0.39 107 89 29 18 33 Benign 11.58 24065 chr18 9887936 9887936 G C rs17805544 TXNDC2 Nonsynonymous SNV R487T 0.045 0.073 0.068 31 53 28 0.079 20 2 2 1 0 16.41 24066 chr6 7585967 7585967 G C rs2744380 DSP Synonymous SNV G2225G 0.739 0.76 0.711 303 868 292 0.777 209 316 110 77 118 Benign 3.907 24067 chr18 9888069 9888069 A G rs2240905 TXNDC2 Synonymous SNV E531E 0.417 0.414 0.415 167 490 159 0.428 122 96 32 26 38 9.223 24068 chr6 7590624 7590624 C T rs2757594 SNRNP48 Nonsynonymous SNV P45L 0.318 0.307 0.279 128 373 118 0.328 82 91 29 19 33 24 24069 chr19 1003439 1003439 G A rs55646937 GRIN3B Nonsynonymous SNV R246H 0.054 0.089 0.088 17 63 34 0.044 26 0 0 2 0 6.531 24070 chr17 13980350 13980350 G A rs2072279 COX10 Nonsynonymous SNV R159Q 0.495 0.49 0.497 201 581 188 0.515 146 143 45 36 55 Benign 27 24071 chr6 7862589 7862589 C T rs17558 BMP6 Synonymous SNV D354D 0.065 0.065 0.075 34 76 25 0.087 22 1 0 0 2 13.32 24072 chr19 1004740 1004740 T C rs2240157 GRIN3B Nonsynonymous SNV W414R 0.773 0.786 0.724 314 907 302 0.805 213 342 118 78 125 0.002 24073 chr6 7862631 7862631 G C rs17557 BMP6 Synonymous SNV V368V 0.382 0.38 0.456 165 449 146 0.423 134 89 32 26 32 10.06 24074 chr19 1004808 1004808 C T rs61736783 GRIN3B Synonymous SNV D436D 0.067 0.109 0.109 32 79 42 0.082 32 2 3 3 1 7.227 24075 chr6 10398707 10398707 G A rs3734391 TFAP2A Synonymous SNV N413N 0.181 0.188 0.201 77 212 72 0.197 59 23 8 7 9 Benign 0.241 24076 chr16 8844389 8844389 C T rs2229157 ABAT Synonymous SNV V103V 0.085 0.115 0.088 40 100 44 0.103 26 3 4 2 0 Likely benign 14.03 24077 chr19 10071347 10071347 C T rs2277969 COL5A3 Nonsynonymous SNV V1691I 0.187 0.172 0.17 61 219 66 0.156 50 24 7 4 7 16.86 24078 chr6 10587038 10587038 C G rs539351 GCNT2 Nonsynonymous SNV D272E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.23 24079 chr19 10077419 10077419 C G rs3745584 COL5A3 Nonsynonymous SNV A1488P 0.244 0.258 0.289 117 287 99 0.3 85 61 20 14 24 5.332 24080 chr6 10687746 10687746 G T rs7749306 C6orf52 Nonsynonymous SNV A13D 0.052 0.055 0.061 24 61 21 0.062 18 1 1 1 1 22.8 24081 chr19 10079093 10079093 C T rs3815746 COL5A3 Nonsynonymous SNV V1428M 0.156 0.148 0.18 68 183 57 0.174 53 20 3 4 8 14.58 24082 chr17 15215660 15215660 T C rs2286516 TEKT3 Synonymous SNV Q339Q 0.31 0.299 0.313 103 364 115 0.264 92 48 15 13 12 4.545 24083 chr6 10764727 10764727 A G rs126405 MAK Synonymous SNV H570H 0.756 0.745 0.735 293 888 286 0.751 216 334 115 77 110 Benign 0.423 24084 chr17 15234895 15234895 C T rs7226363 TEKT3 Nonsynonymous SNV R3H 0.256 0.208 0.259 109 301 80 0.279 76 38 8 12 13 0.292 24085 chr6 10891781 10891781 C T rs1538441 SYCP2L Synonymous SNV D15D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.396 24086 chr19 10084292 10084292 C G rs2287813 COL5A3 Nonsynonymous SNV R1207P 0.394 0.401 0.398 163 463 154 0.418 117 101 32 29 38 18.63 24087 chr6 10955408 10955408 C T rs1225746 SYCP2L Nonsynonymous SNV P672S 0.979 0.969 0.959 385 1149 372 0.987 282 562 180 135 190 19.34 24088 chr17 1531043 1531043 T C rs80191402 SLC43A2 Synonymous SNV S42S 0.015 0.01 0.003 4 18 4 0.01 1 0 0 0 0 5.954 24089 chr19 10085054 10085054 G A rs3815745 COL5A3 Nonsynonymous SNV P1125S 0.151 0.146 0.184 69 177 56 0.177 54 20 4 4 8 24.4 24090 chr6 10989942 10989942 G A rs12195587 ELOVL2 Synonymous SNV Y253Y 0.135 0.081 0.129 39 159 31 0.1 38 4 2 3 1 4.105 24091 chr19 1008683 1008683 G A rs2285906 GRIN3B Nonsynonymous SNV A845T 0.175 0.148 0.146 80 206 57 0.205 43 17 6 2 8 28.7 24092 chr6 11005686 11005686 G A rs2295601 ELOVL2 Synonymous SNV N58N 0.321 0.294 0.272 142 377 113 0.364 80 60 14 7 23 9.43 24093 chr6 11094571 11094571 C T rs149856795 SMIM13 Synonymous SNV L9L 0.022 0.018 0.017 7 26 7 0.018 5 0 0 0 0 13.87 24094 chr19 10088271 10088271 C G rs2161468 COL5A3 Nonsynonymous SNV R1042P 0.371 0.375 0.412 154 436 144 0.395 121 89 28 21 33 11.43 24095 chr6 11104251 11104251 A G rs55893495 ERVFRD-1 Synonymous SNV C431C 0.021 0.018 0.017 7 25 7 0.018 5 0 0 0 0 5.542 24096 chr16 88873065 88873065 A G CDT1 Nonsynonymous SNV N369D 0.003 0 0 0 4 0 0 0 0 0 0 0 12.17 24097 chr16 813650 813650 G A rs3765319 MSLN Synonymous SNV A46A 0.125 0.148 0.122 60 147 57 0.154 36 19 6 1 3 6.916 24098 chr16 78143716 78143716 C G rs201008667 WWOX Nonsynonymous SNV Q72E 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Uncertain significance 21.8 24099 chr6 11105361 11105361 C T rs55899211 ERVFRD-1 Synonymous SNV S61S 0.021 0.021 0.017 7 25 8 0.018 5 0 0 0 0 13.72 24100 chr19 10089262 10089262 G A rs12610207 COL5A3 Synonymous SNV P1002P 0.465 0.443 0.503 193 546 170 0.495 148 141 41 38 51 5.915 24101 chr16 88964557 88964557 C G rs61734177 CBFA2T3 Nonsynonymous SNV R103P 0.063 0.078 0.092 29 74 30 0.074 27 1 2 1 2 22.5 24102 chr6 11185533 11185533 G A rs1050775 NEDD9 Synonymous SNV T640T 0.555 0.529 0.503 212 652 203 0.544 148 176 58 45 57 6.965 24103 chr16 816162 816162 C T MSLN Synonymous SNV A333A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.298 24104 chr19 1009585 1009585 C G rs10401454 GRIN3B Nonsynonymous SNV P1039R 0.377 0.331 0.286 150 443 127 0.385 84 83 24 15 34 0.816 24105 chr5 150947162 150947162 A G rs114337863 FAT2 Nonsynonymous SNV V444A 0.023 0.021 0.017 8 27 8 0.021 5 0 0 0 0 23.3 24106 chr6 11190626 11190626 A G rs941982 NEDD9 Synonymous SNV V343V 0.871 0.865 0.847 318 1022 332 0.815 249 443 145 104 128 0.051 24107 chr19 1010691 1010691 A G rs2240159 TMEM259 Synonymous SNV P507P 0.432 0.393 0.524 193 507 151 0.495 154 197 60 42 75 0.064 24108 chr6 11538534 11538534 C T rs821443 TMEM170B Synonymous SNV H8H 0.303 0.326 0.32 129 356 125 0.331 94 47 18 18 17 12.82 24109 chr17 1551224 1551224 G A rs61735420 RILP Synonymous SNV P283P 0.02 0.013 0.007 5 24 5 0.013 2 0 0 0 0 15.1 24110 chr19 10112346 10112346 T C rs2287803 COL5A3 Nonsynonymous SNV R322G 0.983 0.987 0.983 381 1154 379 0.977 289 567 187 142 186 0.568 24111 chr5 151045923 151045923 C T rs41290587 SPARC Nonsynonymous SNV G244R 0.009 0.016 0.003 3 11 6 0.008 1 0 0 0 0 Likely benign 22.8 24112 chr6 12120445 12120445 A G rs2228215 HIVEP1 Synonymous SNV Q139Q 0.342 0.375 0.395 162 401 144 0.415 116 65 28 20 38 0.959 24113 chr19 10114252 10114252 C G rs61742765 COL5A3 Nonsynonymous SNV A280P 0.227 0.227 0.18 71 266 87 0.182 53 23 12 5 8 14.19 24114 chr6 12120588 12120588 C T rs2228209 HIVEP1 Nonsynonymous SNV T187M 0.342 0.375 0.395 162 402 144 0.415 116 65 28 20 38 20.8 24115 chr17 1630208 1630208 C T rs57207396 WDR81 Nonsynonymous SNV P652L 0.258 0.242 0.276 105 303 93 0.269 81 36 14 9 9 Likely benign 20.7 24116 chr5 151054227 151054227 T C rs2304052 SPARC Synonymous SNV E21E 0.049 0.068 0.116 21 58 26 0.054 34 4 1 1 0 8.103 24117 chr16 89167138 89167138 G C rs11547019 ACSF3 Nonsynonymous SNV A17P 0.018 0.013 0.024 3 21 5 0.008 7 0 0 0 0 Benign 6.067 24118 chr5 151202476 151202476 C T rs116474260 GLRA1 Nonsynonymous SNV G287S 0.022 0.026 0.02 8 26 10 0.021 6 0 0 0 0 Benign/Likely benign 16.57 24119 chr19 10114740 10114740 T A rs62104337 COL5A3 Nonsynonymous SNV N226Y 0.227 0.229 0.187 71 266 88 0.182 55 23 12 5 8 4.459 24120 chr17 1630395 1630395 T C rs59643265 WDR81 Synonymous SNV G714G 0.265 0.245 0.276 104 311 94 0.267 81 39 14 9 9 Likely benign 0.001 24121 chr6 12122174 12122174 A G rs2228210 HIVEP1 Nonsynonymous SNV T716A 0.342 0.375 0.395 162 402 144 0.415 116 65 28 20 38 0.001 24122 chr17 1630584 1630584 A G rs7221974 WDR81 Synonymous SNV L777L 0.268 0.26 0.272 104 315 100 0.267 80 39 14 9 9 Likely benign 0.284 24123 chr19 10116375 10116375 G T rs2303099 COL5A3 Synonymous SNV A151A 0.502 0.526 0.541 184 589 202 0.472 159 154 58 42 42 5.627 24124 chr6 12122645 12122645 A G rs6900196 HIVEP1 Nonsynonymous SNV T873A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 24125 chr19 10129552 10129552 C G rs1122206 RDH8 Nonsynonymous SNV H136Q 0.159 0.167 0.204 62 187 64 0.159 60 9 6 7 7 25.3 24126 chr6 12123249 12123249 A G rs2228220 HIVEP1 Nonsynonymous SNV N1074S 0.126 0.112 0.16 52 148 43 0.133 47 8 3 5 6 Benign 0.001 24127 chr17 16527795 16527795 C A rs8065506 ZNF624 Nonsynonymous SNV K135N 0.319 0.294 0.34 116 375 113 0.297 100 59 13 13 15 11.13 24128 chr19 10131999 10131999 T C rs1644731 RDH8 Nonsynonymous SNV M202T 0.453 0.479 0.469 178 532 184 0.456 138 125 43 33 42 0.023 24129 chr5 153029960 153029960 T C rs707176 GRIA1 Synonymous SNV I97I 0.292 0.286 0.286 114 343 110 0.292 84 46 10 10 11 9.294 24130 chr19 10132000 10132000 G A rs77833898 RDH8 Nonsynonymous SNV M202I 0.131 0.143 0.153 47 154 55 0.121 45 7 4 5 6 0.063 24131 chr5 153382518 153382518 G A rs34136150 FAM114A2 Synonymous SNV T265T 0.107 0.096 0.112 34 126 37 0.087 33 5 2 1 1 13.86 24132 chr16 89764237 89764237 C T rs11866038 SPATA2L Synonymous SNV R260R 0.042 0.063 0.051 20 49 24 0.051 15 0 2 1 1 8.052 24133 chr6 12124855 12124855 G A rs2228213 HIVEP1 Nonsynonymous SNV M1609I 0.342 0.375 0.395 162 402 144 0.415 116 65 28 20 38 0.574 24134 chr17 16537207 16537207 C T rs16959888 ZNF624 Synonymous SNV T115T 0.141 0.128 0.146 43 165 49 0.11 43 13 1 2 1 9.173 24135 chr17 16346932 16346932 G T rs4792745 LRRC75A Synonymous SNV G335G 0.336 0.315 0.378 155 395 121 0.397 111 61 17 25 31 2.059 24136 chr19 1013246 1013246 T G rs769146786 TMEM259 Nonsynonymous SNV T201P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.524 24137 chr17 1636934 1636934 A G rs3809870 WDR81 Nonsynonymous SNV M332V 0.277 0.26 0.272 110 325 100 0.282 80 47 14 9 11 Likely benign 0.001 24138 chr6 12125772 12125772 A G rs1126472 HIVEP1 Nonsynonymous SNV Q1915R 0.161 0.151 0.173 63 189 58 0.162 51 19 4 5 7 Benign 0.001 24139 chr19 1014398 1014398 A G rs7146 TMEM259 Synonymous SNV H100H 0.727 0.729 0.66 282 854 280 0.723 194 295 102 63 105 0.007 24140 chr5 154275786 154275786 G A rs6865950 GEMIN5 Nonsynonymous SNV P1154S 0.089 0.083 0.122 29 104 32 0.074 36 4 0 2 0 0.164 24141 chr6 12294258 12294258 A G rs5369 EDN1 Synonymous SNV E105E 0.854 0.839 0.861 333 1003 322 0.854 253 436 138 109 141 0.06 24142 chr19 10157219 10157219 T G rs11883054 C3P1 0 0 0.612 0 0 0 0 180 0 0 53 0 8.957 24143 chr17 16836425 16836425 G A rs3751987 TBC1D27P 0.355 0.297 0.333 108 417 114 0.277 98 77 19 20 17 12.07 24144 chr19 10165932 10165932 A G rs8113341 C3P1 0 0 0.813 0 0 0 0 239 0 0 98 0 1.966 24145 chr16 89246670 89246670 T C rs59865771 CDH15 Synonymous SNV D88D 0.26 0.25 0.255 72 305 96 0.185 75 39 10 10 8 Likely benign 2.213 24146 chr6 13206282 13206282 C T rs73725623 PHACTR1 Synonymous SNV T208T 0.018 0.018 0.027 4 21 7 0.01 8 1 0 0 0 16.05 24147 chr19 10166375 10166375 G A rs10403787 C3P1 0 0 0.16 0 0 0 0 47 0 0 4 0 1.128 24148 chr5 154282235 154282235 T C rs1421813 GEMIN5 Synonymous SNV G909G 0.089 0.078 0.122 29 104 30 0.074 36 4 0 2 0 10.75 24149 chr19 10169245 10169245 A G rs1993466 C3P1 0 0 0.276 0 0 0 0 81 0 0 10 0 9.375 24150 chr6 13295515 13295515 A C rs1550526 LOC100130357 0.892 0.867 0.881 334 1047 333 0.856 259 466 143 113 141 2.679 24151 chr19 10169261 10169261 C T rs11667703 C3P1 0 0 0.276 0 0 0 0 81 0 0 10 0 9.936 24152 chr17 16842991 16842991 G A rs34562254 TNFRSF13B Nonsynonymous SNV P251L 0.113 0.112 0.112 36 133 43 0.092 33 7 1 1 1 Benign 0.042 24153 chr19 10169278 10169278 T G rs4552116 C3P1 0 0 0.276 0 0 0 0 81 0 0 10 0 7.666 24154 chr6 13295536 13295536 C T rs454563 LOC100130357 0.892 0.867 0.881 334 1047 333 0.856 259 466 143 113 141 6.896 24155 chr19 10218408 10218408 G A rs2305790 SNORD105 0.194 0.203 0.286 91 228 78 0.233 84 37 12 12 13 2.987 24156 chr6 13612078 13612078 A G rs34162626 SIRT5 Nonsynonymous SNV E287G 0.083 0.073 0.078 28 97 28 0.072 23 6 3 0 0 27.6 24157 chr19 10226256 10226256 A G rs7710 EIF3G Synonymous SNV F282F 0.478 0.492 0.459 169 561 189 0.433 135 137 47 25 35 3.953 24158 chr16 83949008 83949008 A G rs752031686 MLYCD Nonsynonymous SNV T466A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 6.542 24159 chr16 89262657 89262657 G A rs117169628 SLC22A31 Nonsynonymous SNV P346L 0.124 0.122 0.092 32 146 47 0.082 27 8 3 2 1 24.1 24160 chr19 10265312 10265312 T C rs721186 DNMT1 Synonymous SNV T578T 0.976 0.974 0.973 381 1146 374 0.977 286 560 182 139 186 Benign 0.139 24161 chr16 89838086 89838086 C A rs1131660 FANCA Nonsynonymous SNV M717I 0.026 0.031 0.051 11 30 12 0.028 15 2 0 0 0 Benign/Likely benign 15.03 24162 chr19 10267077 10267077 T C rs2228611 DNMT1 Synonymous SNV P447P 0.474 0.5 0.459 183 557 192 0.469 135 127 50 29 45 Benign 2.153 24163 chr5 154346259 154346259 A G rs14922 MRPL22 Synonymous SNV S61S 0.127 0.109 0.163 46 149 42 0.118 48 11 2 5 2 8.59 24164 chr6 13616712 13616712 A T rs3757262 NOL7 Synonymous SNV P115P 0.03 0.049 0.024 7 35 19 0.018 7 0 0 0 0 2.674 24165 chr19 1032689 1032689 G T rs1141534 CNN2 Synonymous SNV A128A 0.197 0.154 0.194 87 231 59 0.223 57 24 5 6 8 12.29 24166 chr16 84474484 84474484 G A rs2303853 ATP2C2 Nonsynonymous SNV G260S 0.083 0.078 0.065 33 97 30 0.085 19 4 0 0 4 22.8 24167 chr6 13711279 13711279 A G rs6905991 RANBP9 Synonymous SNV R153R 0.361 0.357 0.381 153 424 137 0.392 112 65 21 24 29 2.792 24168 chr19 10334663 10334663 T G rs2116942 S1PR2 Synonymous SNV R307R 0.669 0.685 0.66 256 785 263 0.656 194 268 88 63 81 Benign 0.027 24169 chr17 1674429 1674429 T C rs8074840 SERPINF1 Synonymous SNV T130T 0.243 0.268 0.245 105 285 103 0.269 72 35 13 8 6 Benign 0.669 24170 chr19 1036456 1036456 C G rs1064410 CNN2 Synonymous SNV A144A 0.178 0.141 0.143 70 209 54 0.179 42 15 6 3 7 6.831 24171 chr6 15496662 15496662 C T rs742099 JARID2 Synonymous SNV P230P 0.305 0.346 0.31 151 358 133 0.387 91 54 23 11 33 14.96 24172 chr5 155771579 155771579 T C rs1801193 SGCD Synonymous SNV Y27Y 0.491 0.479 0.5 177 577 184 0.454 147 141 43 35 36 Benign 0.232 24173 chr19 1036468 1036468 A G rs1064411 CNN2 Synonymous SNV R148R 0.178 0.141 0.143 70 209 54 0.179 42 15 6 3 7 0.054 24174 chr6 15513482 15513482 G A rs2235258 JARID2 Synonymous SNV L921L 0.764 0.755 0.741 303 897 290 0.777 218 341 106 79 120 10.06 24175 chr17 17039562 17039564 CAG - rs113250356 MPRIP S221del 0.668 0.656 0.609 261 784 252 0.669 179 282 86 63 91 24176 chr19 1036552 1036552 T C rs2304262 CNN2 Synonymous SNV C176C 0.855 0.849 0.83 342 1004 326 0.877 244 426 136 100 149 0.035 24177 chr17 17041476 17041476 G A rs3744140 MPRIP Nonsynonymous SNV S360N 0.016 0.023 0.034 4 19 9 0.01 10 0 0 0 0 14.69 24178 chr6 16145325 16145325 A G rs9370867 MYLIP Nonsynonymous SNV N342S 0.485 0.464 0.452 172 569 178 0.441 133 131 42 33 35 0.02 24179 chr16 84115393 84115393 G A rs12933523 MBTPS1 Synonymous SNV L469L 0.113 0.125 0.122 54 133 48 0.138 36 4 0 1 3 10.69 24180 chr19 10395208 10395208 C T rs1801714 ICAM1 Nonsynonymous SNV P352L 0.037 0.06 0.027 11 43 23 0.028 8 1 1 0 0 12.57 24181 chr16 8988692 8988692 C G rs11551183 USP7 Synonymous SNV V1004V 0.009 0.003 0.017 2 10 1 0.005 5 0 0 0 0 12.33 24182 chr16 841331 841331 G A rs756752592 CHTF18 Synonymous SNV L355L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.873 24183 chr16 84485677 84485677 T A rs62640926 ATP2C2 Nonsynonymous SNV L453Q 0.076 0.091 0.075 40 89 35 0.103 22 2 0 0 3 23.1 24184 chr19 10395683 10395683 A G rs5498 ICAM1 Nonsynonymous SNV K469E 0.46 0.443 0.476 166 540 170 0.426 140 114 35 37 32 4.125 24185 chr6 16279097 16279097 T C rs739473 GMPR Synonymous SNV H210H 0.024 0.021 0.037 6 28 8 0.015 11 0 0 0 0 0.01 24186 chr16 89985918 89985918 C A rs1805006 MC1R Nonsynonymous SNV D84E 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 24187 chr17 17069105 17069105 G A rs3744131 MPRIP Synonymous SNV V1432V 0.67 0.659 0.605 263 786 253 0.674 178 263 79 58 90 6.305 24188 chr5 156479444 156479446 TTG - rs398065342 HAVCR1 T200del 0.244 0.216 0.293 101 286 83 0.259 86 35 8 7 13 24189 chr6 16290761 16290761 T A rs1042391 GMPR Nonsynonymous SNV F256I 0.372 0.352 0.429 139 437 135 0.356 126 86 24 29 21 Benign 10.48 24190 chr19 10402938 10402938 G A rs1056538 ICAM5 Nonsynonymous SNV V301I 0.407 0.414 0.418 149 478 159 0.382 123 91 32 28 23 22.7 24191 chr17 17075181 17075181 T - rs3215213 MPRIP 0.065 0.081 0.082 19 76 31 0.049 24 1 2 2 1 24192 chr17 16843084 16843084 A G rs56063729 TNFRSF13B Nonsynonymous SNV V220A 0.032 0.039 0.01 7 38 15 0.018 3 2 0 0 0 Benign/Likely benign 0.001 24193 chr17 17083360 17083360 C T rs61740515 MPRIP Synonymous SNV D1001D 0.011 0.018 0.017 7 13 7 0.018 5 0 0 0 0 15.02 24194 chr6 16306751 16306751 G A rs16885 ATXN1 Nonsynonymous SNV P753S 0.216 0.242 0.241 91 253 93 0.233 71 34 11 10 11 Likely benign 23.8 24195 chr19 10403368 10403368 G A rs2228615 ICAM5 Nonsynonymous SNV A348T 0.407 0.414 0.418 149 478 159 0.382 123 91 32 28 23 14.33 24196 chr5 156479568 156479568 - GTT rs139041445 HAVCR1 T160_V161insT 0.293 0.271 0.32 132 344 104 0.338 94 51 11 10 20 24197 chr19 10404519 10404519 G A rs17852402 ICAM5 Synonymous SNV E537E 0.17 0.208 0.177 66 200 80 0.169 52 13 9 4 5 4.259 24198 chr6 16327330 16327330 T C rs2075974 ATXN1 Synonymous SNV E404E 0.187 0.185 0.224 95 220 71 0.244 66 25 7 9 12 Likely benign 0.003 24199 chr16 90103716 90103716 G A rs117053233 GAS8 Nonsynonymous SNV R86H 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 Benign 22.9 24200 chr19 10407169 10407169 G C rs710845 ICAM5 Synonymous SNV L884L 0.503 0.44 0.5 191 590 169 0.49 147 181 53 41 48 7.892 24201 chr6 16327615 16327615 A G rs179990 ATXN1 Synonymous SNV A309A 0.601 0.602 0.636 224 705 231 0.574 187 201 68 63 68 Likely benign 0.003 24202 chr16 84493301 84493301 G A rs117324337 ATP2C2-AS1 0.019 0.016 0.02 14 22 6 0.036 6 2 0 0 0 14.06 24203 chr19 10415781 10415781 T C rs2291473 ZGLP1 Nonsynonymous SNV I268V 0.112 0.117 0.15 40 131 45 0.103 44 7 1 3 1 0.001 24204 chr16 84494168 84494168 A T rs62050916 ATP2C2-AS1 0.094 0.107 0.092 43 110 41 0.11 27 5 2 0 4 0.59 24205 chr6 16327864 16327864 - TGC rs765686161 ATXN1 Q225_H226insQ 0.3 0.305 0.058 96 352 117 0.246 17 39 18 3 12 24206 chr6 16327915 16327915 - TGC rs864309555 ATXN1 Q208_H209insQ 0.101 0.091 0.058 58 119 35 0.149 17 8 2 2 6 24207 chr5 156589585 156589585 A G rs31208 FAM71B Nonsynonymous SNV M564T 0.149 0.164 0.15 64 175 63 0.164 44 11 5 4 6 0.001 24208 chr6 16327915 16327915 - TGCTGC ATXN1 Q208_H209insQQ 0.068 0.042 0.02 11 80 16 0.028 6 3 0 0 0 24209 chr6 17543302 17543302 A G rs9256 CAP2 Synonymous SNV K267K 0.58 0.641 0.537 242 681 246 0.621 158 203 74 43 72 0.02 24210 chr19 1041852 1041852 G T rs3764644 ABCA7 Synonymous SNV L61L 0.01 0.008 0.017 4 12 3 0.01 5 1 0 0 0 9.111 24211 chr16 84495509 84495509 G A rs62050919 ATP2C2-AS1 0.096 0.107 0.095 43 113 41 0.11 28 5 2 0 4 6.285 24212 chr19 10419130 10419130 C T rs281417 ZGLP1 Synonymous SNV P76P 0.265 0.289 0.313 97 311 111 0.249 92 42 15 14 13 11.4 24213 chr16 9916204 9916204 C G rs9806806 GRIN2A Synonymous SNV R695R 0.267 0.258 0.238 100 314 99 0.256 70 39 12 9 14 Benign 12.26 24214 chr17 17394611 17394611 G A rs1242489 MED9 Synonymous SNV P81P 0.262 0.313 0.235 104 308 120 0.267 69 37 20 10 7 3.042 24215 chr6 17629616 17629616 G A rs942467 NUP153 Synonymous SNV S896S 0.99 0.992 0.986 387 1162 381 0.992 290 575 189 143 192 6.808 24216 chr5 156590191 156590191 C T FAM71B Nonsynonymous SNV G362E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.263 24217 chr19 10433878 10433878 C T rs368847000 RAVER1 Nonsynonymous SNV A341T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.3 24218 chr6 17633061 17633061 C T rs2274136 NUP153 Nonsynonymous SNV A785T 0.619 0.659 0.626 264 727 253 0.677 184 342 119 83 120 22 24219 chr16 9943666 9943666 C T rs2229193 GRIN2A Synonymous SNV L425L 0.254 0.232 0.228 91 298 89 0.233 67 36 9 8 7 Benign 12.94 24220 chr5 156590355 156590355 A G rs31220 FAM71B Synonymous SNV G307G 0.17 0.18 0.167 74 199 69 0.19 49 13 6 7 11 0.357 24221 chr17 10219113 10219113 C T rs17690195 MYH13 Nonsynonymous SNV R1294Q 0.124 0.122 0.095 40 145 47 0.103 28 9 5 1 2 16.96 24222 chr19 1043748 1043748 A G rs3752232 ABCA7 Nonsynonymous SNV T319A 0.015 0.013 0.02 4 18 5 0.01 6 1 0 0 0 0.013 24223 chr6 17688798 17688798 G A rs1065057 NUP153 Synonymous SNV L55L 0.446 0.448 0.452 172 524 172 0.441 133 120 42 25 40 11.68 24224 chr17 17425631 17425631 C T rs897453 PEMT Nonsynonymous SNV V73I 0.451 0.461 0.364 194 529 177 0.497 107 116 40 22 44 1.633 24225 chr17 17046024 17046024 C A rs3744137 MPRIP Nonsynonymous SNV P477Q 0.494 0.466 0.306 192 580 179 0.492 90 157 37 24 42 0.539 24226 chr6 17764530 17764530 C T rs9371018 KIF13A Synonymous SNV E1695E 0.282 0.281 0.272 117 331 108 0.3 80 52 13 17 24 13.73 24227 chr5 156747669 156747669 A G rs1823035 CYFIP2 Synonymous SNV L484L 0.246 0.263 0.265 95 289 101 0.244 78 42 10 11 12 9.173 24228 chr19 10444603 10444603 C G rs2230399 ICAM3 Nonsynonymous SNV S429T 0.061 0.089 0.099 20 72 34 0.051 29 2 2 1 0 4.278 24229 chr6 17764755 17764755 T C rs2296197 KIF13A Synonymous SNV P1620P 0.261 0.305 0.214 92 306 117 0.236 63 43 17 5 13 3.994 24230 chr5 156770133 156770133 C T rs10037485 FNDC9 Nonsynonymous SNV V138I 0.21 0.221 0.224 79 246 85 0.203 66 28 9 10 10 2.784 24231 chr17 17062241 17062241 C G rs11551189 MPRIP Synonymous SNV A807A 0.523 0.49 0.401 206 614 188 0.528 118 171 42 29 53 2.51 24232 chr19 1044712 1044712 A G rs3764647 ABCA7 Nonsynonymous SNV H395R 0.015 0.01 0.017 4 18 4 0.01 5 1 0 0 0 0.001 24233 chr6 17781450 17781450 G A rs942376 KIF13A Synonymous SNV S1196S 0.249 0.268 0.221 90 292 103 0.231 65 34 13 6 12 13.39 24234 chr16 89598356 89598356 C T rs116319889 SPG7 Synonymous SNV G344G 0.013 0.01 0.007 0 15 4 0 2 1 0 0 0 Conflicting interpretations of pathogenicity 13.51 24235 chr16 89619540 89619540 T A rs2099104 SPG7 Nonsynonymous SNV S645T 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 1.966 24236 chr19 10449392 10449392 A G rs2304240 ICAM3 Synonymous SNV S103S 0.84 0.865 0.84 329 986 332 0.844 247 415 143 102 134 3.446 24237 chr6 17794494 17794494 G A rs3734234 KIF13A Synonymous SNV L1070L 0.388 0.424 0.367 151 456 163 0.387 108 87 36 20 32 11.73 24238 chr19 1045173 1045173 G A rs3752233 ABCA7 Nonsynonymous SNV R463H 0.012 0.01 0.014 3 14 4 0.008 4 1 0 0 0 28.1 24239 chr6 17834198 17834198 T G rs4716189 KIF13A Synonymous SNV I420I 0.528 0.5 0.51 205 620 192 0.526 150 161 48 39 58 10.48 24240 chr6 17834213 17834213 T C rs4716190 KIF13A Synonymous SNV R415R 0.538 0.51 0.517 210 632 196 0.538 152 170 49 39 61 3.236 24241 chr19 10463118 10463118 G C rs34536443 TYK2 Nonsynonymous SNV P1104A 0.028 0.036 0.024 14 33 14 0.036 7 3 1 0 0 Benign/Likely benign 26.1 24242 chr5 156917340 156917340 A C rs10067096 ADAM19 Nonsynonymous SNV S740A 0.162 0.128 0.197 58 190 49 0.149 58 14 2 7 5 11.95 24243 chr6 18188091 18188091 T C rs429158 KDM1B Synonymous SNV S214S 0.233 0.281 0.306 102 274 108 0.262 90 37 11 12 15 14.21 24244 chr16 88799799 88799799 G A rs768510250 PIEZO1 Nonsynonymous SNV R851W 0.003 0 0 0 4 0 0 0 0 0 0 0 28 24245 chr16 89813078 89813078 G C rs61753269 FANCA Nonsynonymous SNV L1143V 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 0.001 24246 chr17 17707105 17707105 T C rs3818717 RAI1 Synonymous SNV I1867I 0.485 0.466 0.429 175 569 179 0.449 126 124 45 24 36 Benign 7.67 24247 chr6 18215303 18215303 T C rs214585 KDM1B Synonymous SNV D493D 0.921 0.883 0.922 345 1081 339 0.885 271 500 151 124 152 0.436 24248 chr19 1047537 1047537 A C rs3752239 ABCA7 Nonsynonymous SNV N718T 0.008 0.008 0.017 3 9 3 0.008 5 1 0 0 0 22.6 24249 chr16 84792371 84792371 C G rs71386866 USP10 Synonymous SNV P414P 0.075 0.039 0.054 31 88 15 0.079 16 5 0 0 1 15.91 24250 chr5 156918850 156918850 C T rs2287749 ADAM19 Nonsynonymous SNV G660D 0.101 0.073 0.122 29 118 28 0.074 36 7 0 3 1 24.3 24251 chr17 17415893 17415893 C T rs35277795 PEMT Synonymous SNV A110A 0.093 0.07 0.058 40 109 27 0.103 17 7 1 0 5 12.24 24252 chr6 21065449 21065449 C T rs77152992 CDKAL1 Nonsynonymous SNV P409L 0.097 0.091 0.071 25 114 35 0.064 21 7 1 1 2 25.7 24253 chr16 81942175 81942175 A G rs75472618 PLCG2 Nonsynonymous SNV N571S 0.016 0.021 0.014 7 19 8 0.018 4 0 0 0 0 Benign 22.9 24254 chr19 10475652 10475652 C A rs2304256 TYK2 Nonsynonymous SNV V362F 0.296 0.302 0.272 122 348 116 0.313 80 56 14 11 20 Benign 11.28 24255 chr6 21065450 21065450 A G rs56087852 CDKAL1 Synonymous SNV P409P 0.262 0.25 0.238 88 308 96 0.226 70 45 13 13 7 8.135 24256 chr17 17697094 17697105 CAGCAGCAGCAG - rs587780431 RAI1 Q288_Q291del 0.044 0.068 0.034 21 52 26 0.054 10 1 0 0 0 24257 chr19 1052005 1052005 C T rs3764652 ABCA7 Synonymous SNV A1009A 0.456 0.411 0.408 159 535 158 0.408 120 114 29 24 35 10.04 24258 chr19 1053524 1053524 C G rs3752241 ABCA7 Synonymous SNV L1139L 0.185 0.167 0.143 61 217 64 0.156 42 20 5 5 7 16.53 24259 chr6 22570189 22570189 T C rs6922960 HDGFL1 Synonymous SNV L129L 0.254 0.284 0.313 105 298 109 0.269 92 43 18 19 16 0.032 24260 chr16 88871972 88871972 G A rs145552478 CDT1 Nonsynonymous SNV G205S 0.009 0 0.003 0 10 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 24261 chr19 1054060 1054060 A G rs3752243 ABCA7 Synonymous SNV L1176L 0.457 0.406 0.429 160 537 156 0.41 126 115 28 26 35 0.954 24262 chr17 17997209 17997209 G A rs2230316 DRG2 Synonymous SNV S49S 0.514 0.516 0.5 187 604 198 0.479 147 141 57 38 45 11.82 24263 chr6 22570245 22570245 G A rs6900627 HDGFL1 Synonymous SNV R147R 0.184 0.19 0.282 83 216 73 0.213 83 40 16 17 14 12.27 24264 chr19 1055191 1055191 G A rs3745842 ABCA7 Nonsynonymous SNV R1349Q 0.455 0.404 0.412 157 534 155 0.403 121 113 29 24 34 1.325 24265 chr17 18041507 18041507 C T rs2280777 MYO15A Synonymous SNV L1652L 0.418 0.383 0.395 156 491 147 0.4 116 102 34 24 35 Benign 11.11 24266 chr6 24291203 24291203 T C rs2274305 DCDC2 Nonsynonymous SNV S221G 0.667 0.667 0.616 263 783 256 0.674 181 256 90 53 88 Benign 9.489 24267 chr17 18046138 18046138 G A rs139347804 MYO15A Nonsynonymous SNV R1965H 0.003 0.01 0.003 3 3 4 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.49 24268 chr17 1782957 1782957 C T rs2230930 RPA1 Synonymous SNV S339S 0.187 0.18 0.194 76 219 69 0.195 57 17 5 5 6 10.76 24269 chr19 1056065 1056065 A G rs881768 ABCA7 Synonymous SNV R1413R 0.451 0.401 0.422 158 529 154 0.405 124 117 29 24 35 0.257 24270 chr6 24403455 24403455 C T rs11695 MRS2 Nonsynonymous SNV R61C 0.139 0.135 0.126 71 163 52 0.182 37 12 1 3 8 17.53 24271 chr19 1056492 1056492 G C rs3752246 ABCA7 Nonsynonymous SNV G1527A 0.827 0.799 0.82 320 971 307 0.821 241 403 120 99 133 0.008 24272 chr17 18046898 18046898 T C rs854777 MYO15A Nonsynonymous SNV C1977R 0.675 0.656 0.367 289 793 252 0.741 108 267 81 47 110 Benign 0.938 24273 chr5 159344461 159344461 G A rs3729604 ADRA1B Synonymous SNV G183G 0.239 0.224 0.224 81 281 86 0.208 66 31 12 6 9 0.753 24274 chr6 24411018 24411018 A G rs78721070 MRS2 Nonsynonymous SNV R160G 0.138 0.135 0.126 71 162 52 0.182 37 12 1 3 8 3.204 24275 chr19 10577843 10577843 C A rs1051738 PDE4A Nonsynonymous SNV A497E 0.184 0.19 0.177 68 216 73 0.174 52 30 6 3 6 15.39 24276 chr5 159399066 159399066 G A ADRA1B Nonsynonymous SNV R377H 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 22.6 24277 chr16 84494315 84494315 C T rs62050917 ATP2C2 Nonsynonymous SNV R646W 0.014 0.018 0.017 9 17 7 0.023 5 0 0 0 0 Benign 20.3 24278 chr17 18055229 18055229 G A rs854772 MYO15A Synonymous SNV G2619G 0.581 0.578 0.544 247 682 222 0.633 160 190 63 42 79 Benign 6.087 24279 chr6 24418786 24418786 T C rs79527965 MRS2 Synonymous SNV L313L 0.139 0.135 0.126 71 163 52 0.182 37 13 1 3 8 8.772 24280 chr19 1058176 1058176 A G rs4147918 ABCA7 Nonsynonymous SNV Q1686R 0.012 0.01 0.02 3 14 4 0.008 6 1 0 0 0 1.414 24281 chr6 24437445 24437445 G A rs1772256 GPLD1 Nonsynonymous SNV T698I 0.991 0.987 0.966 387 1164 379 0.992 284 577 187 137 192 5.8 24282 chr17 18057167 18057167 A T rs712270 MYO15A Nonsynonymous SNV Y2682F 0.34 0.297 0.293 118 399 114 0.303 86 56 24 15 21 Benign 20.7 24283 chr19 10600442 10600442 G C rs1048290 KEAP1 Synonymous SNV L471L 0.424 0.445 0.459 170 498 171 0.436 135 110 39 27 29 0.13 24284 chr5 159686503 159686503 G A rs13362036 CCNJL Nonsynonymous SNV H186Y 0.06 0.063 0.031 24 70 24 0.062 9 2 1 0 1 17.49 24285 chr19 1062192 1062192 T C rs4147921 ABCA7 Synonymous SNV A1864A 0.012 0.01 0.02 3 14 4 0.008 6 1 0 0 0 0.046 24286 chr6 24445829 24445829 G A rs9358767 GPLD1 Synonymous SNV H655H 0.098 0.096 0.119 37 115 37 0.095 35 2 0 3 1 0.402 24287 chr17 18058521 18058521 C T rs712272 MYO15A Synonymous SNV S2774S 0.339 0.302 0.293 120 398 116 0.308 86 55 24 15 21 Benign 14.64 24288 chr19 10625067 10625067 A C rs6511701 S1PR5 Synonymous SNV A207A 0.767 0.771 0.752 300 901 296 0.769 221 347 113 85 115 0.002 24289 chr16 89017334 89017334 C T rs28617399 LOC100129697 Nonsynonymous SNV R270W 0.288 0.227 0.347 110 338 87 0.282 102 54 8 19 16 13.06 24290 chr5 159820931 159820931 C A rs10515808 ZBED8 Nonsynonymous SNV A523S 0.106 0.138 0.116 60 124 53 0.154 34 7 3 2 3 0.222 24291 chr6 24463020 24463020 G C rs17300770 GPLD1 Nonsynonymous SNV D275E 0.152 0.122 0.16 71 178 47 0.182 47 10 2 2 5 2.377 24292 chr19 1065018 1065018 G T rs4147934 ABCA7 Nonsynonymous SNV A2045S 0.727 0.716 0.731 295 853 275 0.756 215 336 106 78 114 0.007 24293 chr17 18077175 18077175 T C rs854800 MYO15A Synonymous SNV Y3477Y 0.678 0.661 0.684 287 796 254 0.736 201 269 82 68 108 Benign 0.329 24294 chr19 1065044 1065044 C T rs4147935 ABCA7 Synonymous SNV G2053G 0.367 0.391 0.378 161 431 150 0.413 111 78 25 17 35 14.34 24295 chr6 24596478 24596478 T G rs4576240 KIAA0319 Nonsynonymous SNV T97P 0.894 0.917 0.864 351 1049 352 0.9 254 470 162 110 158 0.004 24296 chr19 10668452 10668452 A G rs3745255 KRI1 Synonymous SNV F493F 0.685 0.711 0.711 271 804 273 0.695 209 278 93 78 92 0.195 24297 chr19 10668673 10668673 A G rs1982074 KRI1 Nonsynonymous SNV L445P 0.181 0.214 0.224 82 213 82 0.21 66 16 7 7 6 0.919 24298 chr5 159992655 159992655 T C rs3812005 ATP10B Synonymous SNV V1397V 0.334 0.292 0.367 134 392 112 0.344 108 68 15 17 26 0.268 24299 chr6 24645967 24645967 T G rs2038135 KIAA0319 Nonsynonymous SNV T12P 0.704 0.724 0 287 826 278 0.736 0 283 104 0 112 8.652 24300 chr6 24653376 24653376 G A rs1129644 TDP2 Synonymous SNV N214N 0.683 0.703 0.745 250 802 270 0.641 219 288 103 83 84 10.21 24301 chr5 159992754 159992754 T G rs3812006 ATP10B Synonymous SNV P1364P 0.334 0.292 0.371 134 392 112 0.344 109 68 15 17 26 0.407 24302 chr17 181479 181479 C A rs12947988 LOC100506388 0.328 0.284 0.327 106 385 109 0.272 96 61 17 9 13 3.804 24303 chr19 10670184 10670184 C G rs3826709 KRI1 Nonsynonymous SNV E349Q 0.43 0.44 0.446 161 505 169 0.413 131 113 36 28 32 23.4 24304 chr6 24698215 24698215 G A rs7765904 ACOT13 Synonymous SNV T62T 0.247 0.232 0.31 93 290 89 0.238 91 34 11 14 5 5.463 24305 chr17 18167505 18167505 T C rs2605143 MIEF2 Synonymous SNV A264A 0.572 0.56 0.588 234 671 215 0.6 173 197 55 51 69 0.006 24306 chr6 24825511 24825511 A G rs9358804 RIPOR2 Synonymous SNV S937S 0.817 0.76 0.735 309 959 292 0.792 216 393 113 81 122 Benign 5.703 24307 chr19 10670351 10670351 C T rs45518133 KRI1 Nonsynonymous SNV V321M 0.016 0.013 0.01 4 19 5 0.01 3 0 0 0 0 22.8 24308 chr17 18193941 18193941 G A rs2230154 TOP3A Synonymous SNV D414D 0.211 0.188 0.214 64 248 72 0.164 63 24 8 7 7 10.39 24309 chr6 25420344 25420344 C G rs913455 CARMIL1 Synonymous SNV V47V 0.982 0.99 0.976 384 1153 380 0.985 287 566 188 140 189 18.28 24310 chr17 18219742 18219742 G A rs34824853 SMCR8 Synonymous SNV T213T 0.031 0.036 0.041 14 36 14 0.036 12 0 0 0 0 7.759 24311 chr19 10670992 10670992 C T rs3745249 KRI1 Nonsynonymous SNV E266K 0.489 0.482 0.476 189 574 185 0.485 140 142 44 31 50 12.7 24312 chr17 18220674 18220674 C T rs8080966 SMCR8 Nonsynonymous SNV P524L 0.213 0.188 0.214 64 250 72 0.164 63 25 8 7 7 22.8 24313 chr6 25435758 25435758 A G rs9467515 CARMIL1 Synonymous SNV S99S 0.532 0.531 0.476 177 625 204 0.454 140 153 51 33 48 8.601 24314 chr6 25435822 25435822 C T rs201012642 CARMIL1 Nonsynonymous SNV L121F 0.003 0 0 0 3 0 0 0 0 0 0 0 17.12 24315 chr17 18064730 18064730 C T rs8077577 MYO15A Synonymous SNV D3162D 0.222 0.255 0.228 121 261 98 0.31 67 30 16 5 14 Benign 12.73 24316 chr19 10672493 10672493 C T rs12984043 KRI1 Nonsynonymous SNV G138R 0.423 0.411 0.388 157 497 158 0.403 114 112 30 23 35 9.795 24317 chr5 161128627 161128627 C T rs34907804 GABRA6 Nonsynonymous SNV P404S 0.117 0.109 0.092 39 137 42 0.1 27 6 2 1 2 12.88 24318 chr17 18220770 18220770 G A rs1563632 SMCR8 Nonsynonymous SNV R556H 0.576 0.568 0.595 237 676 218 0.608 175 198 55 51 71 5.035 24319 chr6 25472737 25472737 C T rs41271815 CARMIL1 Synonymous SNV L288L 0.052 0.052 0.085 26 61 20 0.067 25 2 1 1 1 16.75 24320 chr19 10676423 10676423 G A rs3745245 KRI1 Synonymous SNV S46S 0.745 0.727 0.646 269 875 279 0.69 190 328 102 66 90 9.092 24321 chr17 18088094 18088094 C T rs11078411 ALKBH5 Synonymous SNV H179H 0.222 0.26 0.248 123 261 100 0.315 73 29 18 5 15 9.609 24322 chr19 10679240 10679240 C G rs1968445 CDKN2D Synonymous SNV R30R 0.925 0.935 0.925 349 1086 359 0.895 272 504 167 128 155 16.19 24323 chr17 18221134 18221134 C T rs1563631 SMCR8 Synonymous SNV Y677Y 0.213 0.188 0.214 64 250 72 0.164 63 25 8 7 7 9.512 24324 chr6 25600602 25600602 A G rs9885888 CARMIL1 Synonymous SNV K1060K 0.034 0.026 0.027 20 40 10 0.051 8 0 0 0 0 4.12 24325 chr16 87637893 87637893 - CTGCTGCTG rs71156237 JPH3 A157_V158insAAA 0.055 0.042 0.034 14 65 16 0.036 10 2 2 1 0 24326 chr19 10692000 10692000 T C rs1045361 AP1M2 Synonymous SNV S205S 0.176 0.208 0.224 78 207 80 0.2 66 17 8 6 4 0.38 24327 chr17 18226177 18226177 G T rs4925171 SMCR8 Synonymous SNV L869L 0.224 0.195 0.231 67 263 75 0.172 68 27 9 8 7 5.333 24328 chr6 25600968 25600968 G A rs10456324 CARMIL1 Synonymous SNV A1182A 0.476 0.453 0.483 178 559 174 0.456 142 161 49 35 47 11.99 24329 chr19 1071312 1071312 C T rs4807506 ARHGAP45 Nonsynonymous SNV P9S 0.723 0.682 0.65 267 849 262 0.685 191 328 101 73 102 7.699 24330 chr16 87723535 87723535 C T rs190793959 JPH3 Synonymous SNV A523A 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 Benign 13.15 24331 chr17 1840468 1840468 C T rs9903800 RTN4RL1 Synonymous SNV A216A 0.718 0.727 0.721 273 843 279 0.7 212 304 97 75 99 10.59 24332 chr6 25605091 25605091 G A rs1012899 CARMIL1 Nonsynonymous SNV G1202S 0.775 0.768 0.765 288 910 295 0.738 225 355 111 85 112 9.942 24333 chr19 10738639 10738639 C T rs3087969 SLC44A2 Synonymous SNV D66D 0.724 0.69 0.731 276 850 265 0.708 215 304 92 79 98 4.853 24334 chr5 162911075 162911075 C A rs2230363 HMMR Nonsynonymous SNV L509I 0.09 0.094 0.085 42 106 36 0.108 25 5 4 1 3 20.5 24335 chr19 1074000 1074000 A T rs2074442 ARHGAP45 Nonsynonymous SNV E142D 0.773 0.734 0.769 284 908 282 0.728 226 348 104 90 106 0.002 24336 chr6 25726675 25726675 G A rs9358871 H2AC1 Synonymous SNV P27P 0.204 0.214 0.211 76 240 82 0.195 62 33 10 6 6 9.524 24337 chr17 10366204 10366204 T C rs35984286 MYH4 Nonsynonymous SNV Q329R 0.042 0.07 0.058 19 49 27 0.049 17 1 1 0 0 11.17 24338 chr17 18148485 18148485 G A rs7498 FLII Synonymous SNV H1204H 0.242 0.271 0.228 139 284 104 0.356 67 39 18 4 21 12.86 24339 chr6 25727265 25727265 C T rs4712960 H2BC1 Synonymous SNV I43I 0.204 0.214 0.211 75 239 82 0.192 62 33 10 6 6 9.071 24340 chr17 11687721 11687721 G A rs16945337 DNAH9 Synonymous SNV A2642A 0.052 0.031 0.044 17 61 12 0.044 13 1 0 0 1 3.173 24341 chr19 10742170 10742170 A G rs2288904 SLC44A2 Nonsynonymous SNV Q152R 0.731 0.703 0.738 280 858 270 0.718 217 311 96 81 101 8.159 24342 chr5 166711862 166711862 G A rs115605129 TENM2 Nonsynonymous SNV R7Q 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 34 24343 chr6 25727334 25727334 C T rs4712961 H2BC1 Synonymous SNV S66S 0.204 0.214 0.211 75 239 82 0.192 62 33 10 6 6 6.062 24344 chr6 25727517 25727517 G A rs9358872 H2BC1 Synonymous SNV K127K 0.204 0.214 0.187 75 240 82 0.192 55 33 10 6 6 6.284 24345 chr19 10794630 10794630 G T rs2229383 ILF3 Synonymous SNV S685S 0.516 0.516 0.531 191 606 198 0.49 156 147 50 40 42 7.334 24346 chr5 167489093 167489093 A T rs72824988 TENM2 Synonymous SNV I214I 0.149 0.094 0.122 47 175 36 0.121 36 14 3 1 5 0.173 24347 chr19 1080311 1080311 G C rs2074454 ARHGAP45 Synonymous SNV P222P 0.776 0.732 0.765 285 911 281 0.731 225 351 104 88 108 0.804 24348 chr6 25762241 25762241 T C rs34932751 SLC17A4 Synonymous SNV D17D 0.014 0.013 0.003 9 17 5 0.023 1 0 0 0 0 0.264 24349 chr17 18219835 18219835 T C rs3829956 SMCR8 Synonymous SNV I244I 0.24 0.263 0.224 137 282 101 0.351 66 39 16 3 21 0.207 24350 chr19 1081617 1081617 A G rs10404947 ARHGAP45 Synonymous SNV Q388Q 0.8 0.771 0.806 287 939 296 0.736 237 377 115 97 112 4.135 24351 chr5 167553880 167553880 C T rs10055910 TENM2 Synonymous SNV H545H 0.237 0.237 0.269 98 278 91 0.251 79 37 9 7 10 12.98 24352 chr6 25769349 25769349 T C rs1892251 SLC17A4 Synonymous SNV A76A 0.852 0.888 0.874 342 1000 341 0.877 257 425 150 114 148 0.21 24353 chr19 1085966 1085966 A G rs3761028 ARHGAP45 Synonymous SNV T759T 0.63 0.607 0.599 241 740 233 0.618 176 241 70 51 77 0.008 24354 chr6 25779392 25779392 A G rs9358890 SLC17A4 Synonymous SNV K490K 0.066 0.076 0.082 30 78 29 0.077 24 1 1 0 1 0.106 24355 chr16 84218565 84218565 T C rs2230126 TAF1C Synonymous SNV A10A 0.144 0.104 0.143 47 169 40 0.121 42 8 2 2 3 0.159 24356 chr19 1094004 1094004 G A rs12459404 POLR2E Nonsynonymous SNV S44F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.18 24357 chr6 25813150 25813150 G A rs1165196 SLC17A1 Nonsynonymous SNV T269I 0.57 0.544 0.531 193 669 209 0.495 156 192 51 39 44 1.244 24358 chr19 1110829 1110829 G A rs2302109 SBNO2 Synonymous SNV N924N 0.468 0.479 0.527 182 549 184 0.467 155 133 46 40 45 9.34 24359 chr17 1370542 1370542 C A rs2302458 MYO1C Synonymous SNV L1053L 0.061 0.063 0.082 22 72 24 0.056 24 3 0 3 0 Benign 17.01 24360 chr19 1112943 1112943 G C rs7249065 SBNO2 Synonymous SNV T694T 0.041 0.039 0.051 26 48 15 0.067 15 2 0 1 2 13.81 24361 chr19 1113701 1113701 G A rs2302110 SBNO2 Nonsynonymous SNV P637S 0.172 0.177 0.211 74 202 68 0.19 62 16 10 4 7 2.942 24362 chr6 25849620 25849620 A G rs942379 SLC17A3 Synonymous SNV S370S 0.541 0.513 0.51 188 635 197 0.482 150 180 47 34 42 0.046 24363 chr5 167855044 167855044 A G rs61730019 WWC1 Nonsynonymous SNV N606S 0.056 0.065 0.054 22 66 25 0.056 16 3 1 1 1 0.002 24364 chr16 84227905 84227905 G A rs13333300 LOC654780 0.043 0.036 0.031 16 51 14 0.041 9 0 0 0 0 4.326 24365 chr17 18221010 18221010 A G rs12449313 SMCR8 Nonsynonymous SNV N636S 0.241 0.263 0.224 138 283 101 0.354 66 39 16 3 21 0.001 24366 chr6 25850845 25850845 C T rs56027330 SLC17A3 Nonsynonymous SNV G201R 0.144 0.135 0.133 53 169 52 0.136 39 10 3 2 3 17.63 24367 chr19 1119019 1119019 C T rs2074920 SBNO2 Synonymous SNV A449A 0.428 0.43 0.483 156 502 165 0.4 142 111 35 36 26 11.19 24368 chr16 88495487 88495487 G A rs184458982 ZNF469 Nonsynonymous SNV V537M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Uncertain significance 1.906 24369 chr19 1119963 1119963 A G rs2074921 SBNO2 Synonymous SNV A346A 0.427 0.424 0.473 156 501 163 0.4 139 111 34 35 26 3.793 24370 chr19 11210912 11210912 C T rs2228671 LDLR Synonymous SNV C27C 0.102 0.135 0.105 34 120 52 0.087 31 8 3 2 3 Benign 13.8 24371 chr5 167913510 167913510 G A rs244903 RARS1 Nonsynonymous SNV V3I 0.51 0.518 0.541 180 599 199 0.462 159 145 52 43 40 Benign 18.77 24372 chr6 25862466 25862466 C T rs1165165 SLC17A3 Nonsynonymous SNV A100T 0.288 0.26 0.252 99 338 100 0.254 74 52 9 12 10 8.296 24373 chr17 182929 182990 GGCCATTAGAGCTCACCACCCCGGGCGTTCGTCACTGCAGACATCACTGCAGACACAGAGAA - rs71145705 LOC100506388 0.359 0.37 0.031 99 422 142 0.254 9 197 68 4 45 24374 chr19 1122146 1122146 C G rs192343149 SBNO2 Nonsynonymous SNV E324Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 24.4 24375 chr5 167919726 167919726 A G rs2305727 RARS1 Synonymous SNV Q81Q 0.159 0.148 0.116 53 187 57 0.136 34 18 6 2 4 Benign 0.409 24376 chr6 25914801 25914801 G A rs2071299 SLC17A2 Synonymous SNV G387G 0.397 0.391 0.374 149 466 150 0.382 110 100 29 22 29 14.23 24377 chr17 1387472 1387472 C T rs11538156 MYO1C Synonymous SNV L67L 0.179 0.13 0.109 84 210 50 0.215 32 25 2 4 6 Benign 14.98 24378 chr17 18907029 18907029 A G rs2074283 FAM83G Nonsynonymous SNV I109T 0.051 0.034 0.058 15 60 13 0.038 17 1 0 1 1 0.005 24379 chr19 1122147 1122147 G A rs2072280 SBNO2 Synonymous SNV F323F 0.42 0.411 0.476 157 493 158 0.403 140 111 34 35 26 13.36 24380 chr5 167919825 167919825 G A rs2305728 RARS1 Synonymous SNV Q114Q 0.159 0.148 0.116 53 187 57 0.136 34 18 6 2 4 Benign 9.304 24381 chr17 20107773 20107773 T C rs2703805 SPECC1 Synonymous SNV S56S 0.465 0.466 0.412 174 546 179 0.446 121 127 39 25 38 0.058 24382 chr19 11224181 11224181 C T rs1003723 MIR6886 0.402 0.406 0.415 150 472 156 0.385 122 103 33 29 26 Benign 8.65 24383 chr6 25916979 25916979 C T rs1865760 SLC17A2 Synonymous SNV L288L 0.397 0.391 0.374 150 466 150 0.385 110 100 29 22 29 12.69 24384 chr5 167924260 167924260 C A rs11557637 RARS1 Synonymous SNV T243T 0.158 0.148 0.116 53 186 57 0.136 34 18 6 2 4 Benign 21.2 24385 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGGG MYH3 T202_G203insPSLLCPYTSYPSWPPAEAQAQASALTLPSCQQEFCYEIKH 0.021 0.031 0 3 25 12 0.008 0 0 0 0 0 24386 chr17 20108239 20108239 A T rs2703806 SPECC1 Nonsynonymous SNV M212L 0.585 0.583 0.561 221 687 224 0.567 165 202 66 48 61 0.001 24387 chr19 11224265 11224265 A G rs5930 LDLR Synonymous SNV R303R 0.511 0.539 0.592 201 600 207 0.515 174 152 61 50 47 Benign 0.061 24388 chr17 18918396 18918396 G C rs2074279 SLC5A10 Synonymous SNV A348A 0.053 0.021 0.044 16 62 8 0.041 13 0 0 2 0 10.59 24389 chr6 26027433 26027433 G A rs3752419 H4C2 Synonymous SNV A16A 0.342 0.349 0.367 134 402 134 0.344 108 69 24 20 19 7.763 24390 chr5 167933060 167933060 A G rs2305733 RARS1 Synonymous SNV V364V 0.16 0.148 0.116 53 188 57 0.136 34 18 6 2 4 Benign 10.89 24391 chr19 11227602 11227602 C T rs688 LDLR Synonymous SNV N423N 0.385 0.388 0.405 142 452 149 0.364 119 96 28 27 25 Benign/Likely benign 9.652 24392 chr17 18923180 18923180 C T rs12604020 SLC5A10 Nonsynonymous SNV A495V 0.049 0.018 0.054 16 58 7 0.041 16 0 0 1 0 0.037 24393 chr6 26033506 26033506 G A rs2230655 H2AC4 Synonymous SNV L97L 0.698 0.688 0.673 261 819 264 0.669 198 279 87 64 84 2.199 24394 chr17 20109189 20109189 C T rs2703807 SPECC1 Synonymous SNV N528N 0.461 0.466 0.412 174 541 179 0.446 121 125 39 25 38 4.299 24395 chr5 167933158 167933158 T A rs2305734 RARS1 Nonsynonymous SNV F397Y 0.16 0.148 0.116 52 188 57 0.133 34 18 6 2 3 Benign 0.321 24396 chr19 11230881 11230881 T C rs5925 LDLR Synonymous SNV V485V 0.385 0.391 0.405 146 452 150 0.374 119 95 29 26 25 Benign/Likely benign 0.51 24397 chr6 26045737 26045737 C G rs3752418 H3C3 Synonymous SNV T33T 0.08 0.091 0.088 35 94 35 0.09 26 6 2 0 1 0.257 24398 chr19 11233941 11233941 A G rs5927 LDLR Synonymous SNV R576R 0.654 0.677 0.66 260 768 260 0.667 194 265 86 58 87 Benign 13.04 24399 chr17 20163529 20163529 A G rs2703791 SPECC1 Synonymous SNV A873A 0.584 0.586 0.561 221 686 225 0.567 165 202 67 48 61 10.35 24400 chr17 1456318 1456318 G A rs2230463 PITPNA Synonymous SNV H59H 0.058 0.034 0.041 30 68 13 0.077 12 2 0 1 2 8.29 24401 chr6 26045929 26045929 T C rs3752416 H3C3 Synonymous SNV C97C 0.643 0.635 0.619 238 755 244 0.61 182 236 76 57 70 0.056 24402 chr5 167943827 167943827 G A rs653568 RARS1 Synonymous SNV A499A 0.603 0.628 0.629 206 708 241 0.528 185 211 78 56 56 Benign 7.096 24403 chr19 11303943 11303943 A G rs3745681 KANK2 Synonymous SNV V271V 0.363 0.391 0.408 126 426 150 0.323 120 70 32 23 19 0.662 24404 chr19 11326119 11326119 A G rs2304155 DOCK6 Synonymous SNV N1350N 0.664 0.622 0.582 267 779 239 0.685 171 253 78 50 93 Benign 0.042 24405 chr6 26056549 26056549 A G rs10425 H1-2 Synonymous SNV S36S 0.641 0.628 0.633 231 752 241 0.592 186 232 72 56 63 0.005 24406 chr5 168098235 168098235 A G rs2277933 SLIT3 Synonymous SNV D1372D 0.183 0.182 0.139 53 215 70 0.136 41 20 6 4 1 0.106 24407 chr17 19319374 19319374 T C rs76138388 RNF112 Synonymous SNV A594A 0.041 0.01 0.031 6 48 4 0.015 9 1 0 0 0 0.006 24408 chr19 11326125 11326125 C T rs2304154 DOCK6 Synonymous SNV P1348P 0.662 0.612 0.582 267 777 235 0.685 171 253 76 50 93 Benign 13.15 24409 chr6 26104448 26104448 A G rs198852 H4C3 Synonymous SNV L91L 0.311 0.331 0.313 141 365 127 0.362 92 50 18 12 22 4.971 24410 chr16 88498537 88498537 T C ZNF469 Synonymous SNV L1553L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 24411 chr16 87637893 87637893 - CTGCTGCTGCTG JPH3 A157_V158insAAAA 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 24412 chr19 11327608 11327608 T C rs4804151 DOCK6 Synonymous SNV L1292L 0.705 0.68 0.629 285 828 261 0.731 185 293 95 55 107 Benign 1.632 24413 chr17 1939971 1939971 G A rs61753099 DPH1 Synonymous SNV S48S 0.116 0.115 0.116 46 136 44 0.118 34 8 3 2 1 10.79 24414 chr16 88498558 88498558 T C ZNF469 Synonymous SNV D1560D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 24415 chr6 26107790 26107790 G T rs198845 H1-6 Nonsynonymous SNV Q178K 0.31 0.331 0.316 141 364 127 0.362 93 49 18 13 22 3.544 24416 chr5 168176517 168176517 A G rs2304035 SLIT3 Synonymous SNV I699I 0.372 0.406 0.364 132 437 156 0.338 107 74 26 16 22 7.827 24417 chr19 11327626 11327626 A G rs4804152 DOCK6 Synonymous SNV D1286D 0.705 0.68 0.629 284 828 261 0.728 185 293 94 55 106 Benign 0.402 24418 chr19 11350340 11350340 C G rs892066 ANGPTL8 Synonymous SNV L9L 0.114 0.138 0.133 49 134 53 0.126 39 9 3 3 1 5.909 24419 chr6 26108282 26108282 C G rs198844 H1-6 Nonsynonymous SNV V14L 0.432 0.432 0.439 182 507 166 0.467 129 106 29 27 37 0.098 24420 chr19 11358799 11358799 G A rs12978266 DOCK6 Nonsynonymous SNV P250L 0.766 0.766 0.748 288 899 294 0.738 220 348 111 81 108 Benign 22.9 24421 chr5 168233474 168233474 G A rs3797715 SLIT3 Synonymous SNV N304N 0.168 0.193 0.15 77 197 74 0.197 44 15 7 6 8 10.5 24422 chr19 11465316 11465316 G C rs6887 CCDC159 Nonsynonymous SNV C278S 0.471 0.492 0.456 167 553 189 0.428 134 118 44 31 31 0.009 24423 chr6 26184041 26184041 A G rs16891375 H2BC6 Synonymous SNV K6K 0.145 0.159 0.129 64 170 61 0.164 38 13 4 1 7 0.151 24424 chr16 89623405 89623405 C T rs61747711 SPG7 Synonymous SNV I764I 0.066 0.094 0.061 16 77 36 0.041 18 1 2 0 0 Benign 11.55 24425 chr6 26199222 26199222 G A rs113561314 H2AC7 Synonymous SNV L84L 0.153 0.161 0.136 67 180 62 0.172 40 13 5 1 8 4.351 24426 chr19 11526759 11526759 G A rs160838 RGL3 Nonsynonymous SNV A164V 0.594 0.547 0.514 226 697 210 0.579 151 214 67 48 71 19.28 24427 chr6 26199822 26199822 A G rs41266807 H2BC7 Synonymous SNV K12K 0.244 0.268 0.201 98 287 103 0.251 59 36 18 4 15 0.016 24428 chr17 11840819 11840819 G T rs144547132 DNAH9 Nonsynonymous SNV G526C 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 24.4 24429 chr16 88504239 88504239 G A rs75288466 ZNF469 Nonsynonymous SNV R3454Q 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 24430 chr6 26200083 26200083 A G rs1059486 H2BC7 Synonymous SNV V99V 0.614 0.625 0.527 223 721 240 0.572 155 216 74 42 62 9.646 24431 chr17 19643789 19643789 T G rs141568499 ALDH3A1 Nonsynonymous SNV E270A 0.013 0.003 0 3 15 1 0.008 0 0 0 0 0 23.8 24432 chr19 11598657 11598657 A G rs117673751 ZNF653 Synonymous SNV S207S 0.048 0.036 0.058 18 56 14 0.046 17 3 0 0 1 2.539 24433 chr17 15406197 15406197 A T rs12150518 TVP23C Nonsynonymous SNV L271Q 0.051 0.063 0.051 28 60 24 0.072 15 0 3 1 3 23 24434 chr6 26216656 26216656 T C rs41266811 H2BC8 Synonymous SNV E72E 0.147 0.161 0.129 65 173 62 0.167 38 12 5 1 8 0.319 24435 chr19 11890921 11890921 C T rs33949590 ZNF441 Synonymous SNV N94N 0.115 0.102 0.088 54 135 39 0.138 26 4 3 1 4 9.049 24436 chr6 26234883 26234883 A G rs2050950 H1-3 Synonymous SNV T93T 0.244 0.279 0.201 102 286 107 0.262 59 38 20 6 15 0.002 24437 chr19 11891003 11891003 G A rs799193 ZNF441 Nonsynonymous SNV V122I 0.793 0.797 0.782 308 931 306 0.79 230 367 122 90 124 0.443 24438 chr6 26234952 26234952 A G rs2050948 H1-3 Synonymous SNV A70A 0.244 0.279 0.201 102 286 107 0.262 59 38 20 6 15 0.025 24439 chr19 12154799 12154799 G C rs67102109 ZNF878 Nonsynonymous SNV H473D 0.083 0.086 0.082 27 97 33 0.069 24 3 3 1 1 26.4 24440 chr6 26235041 26235041 C T rs138815183 H1-3 Nonsynonymous SNV V41I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.1 24441 chr19 12186148 12186148 T C rs10424893 ZNF844 Synonymous SNV V71V 0.17 0.18 0.197 58 200 69 0.149 58 16 5 7 4 0.062 24442 chr17 15554561 15554561 C A rs2074890 TRIM16 Nonsynonymous SNV E121D 0.051 0.057 0.044 26 60 22 0.067 13 3 1 0 0 13.71 24443 chr6 26247198 26247198 A G rs41266821 H4C7 Nonsynonymous SNV V3A 0.197 0.216 0.153 93 231 83 0.238 45 21 6 3 17 0.026 24444 chr5 169435713 169435713 A C rs2287727 DOCK2 Synonymous SNV L1065L 0.238 0.294 0.204 94 279 113 0.241 60 33 18 6 11 0.014 24445 chr16 88495575 88495575 C T rs181785233 ZNF469 Nonsynonymous SNV A566V 0.004 0.008 0.01 3 5 3 0.008 3 0 0 0 0 Benign/Likely benign 9.82 24446 chr19 12186611 12186611 A G rs7259684 ZNF844 Nonsynonymous SNV K226E 0.09 0.117 0.102 30 106 45 0.077 30 3 4 3 1 0.007 24447 chr5 169454941 169454941 C G rs9791113 DOCK2 Synonymous SNV L1152L 0.403 0.375 0.398 138 473 144 0.354 117 92 32 24 25 12.79 24448 chr6 26285560 26285560 A G rs2393592 H4C8 Synonymous SNV R56R 0.654 0.651 0.582 238 768 250 0.61 171 244 84 50 73 0.224 24449 chr6 26285683 26285683 T C rs2393593 H4C8 Synonymous SNV G15G 0.698 0.693 0.639 255 819 266 0.654 188 282 91 62 87 0.415 24450 chr5 169461547 169461547 C T rs3763048 DOCK2 Synonymous SNV T1204T 0.412 0.391 0.398 147 484 150 0.377 117 97 31 25 26 16.59 24451 chr19 12186761 12186761 A G rs7259845 ZNF844 Nonsynonymous SNV T276A 0.17 0.18 0.19 58 200 69 0.149 56 16 5 7 4 17.09 24452 chr17 16251956 16251956 G T CENPV Nonsynonymous SNV P185T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 24453 chr6 26368938 26368938 C T rs28717012 BTN3A2 Synonymous SNV N77N 0.21 0.214 0.238 90 247 82 0.231 70 0 0 0 0 Benign 10.15 24454 chr19 12186857 12186857 G C rs6511763 ZNF844 Nonsynonymous SNV A308P 0.17 0.18 0.197 58 200 69 0.149 58 16 5 7 4 0.376 24455 chr6 26370605 26370605 T C rs9379860 BTN3A2 Synonymous SNV H163H 0.328 0.286 0.371 135 385 110 0.346 109 57 13 26 27 0.015 24456 chr17 20013802 20013802 G A rs3764436 SPECC1 Synonymous SNV V70V 0.071 0.07 0.092 29 83 27 0.074 27 4 0 2 1 5.698 24457 chr6 26370833 26370833 T G rs58367598 BTN3A2 0.061 0.042 0.054 28 72 16 0.072 16 5 0 3 0 18.48 24458 chr19 12186921 12186921 T C rs8102258 ZNF844 Nonsynonymous SNV V329A 0.08 0.063 0.095 28 94 24 0.072 28 5 0 0 0 12.48 24459 chr5 169685163 169685163 C T rs315717 LCP2 Synonymous SNV Q326Q 0.506 0.482 0.527 197 594 185 0.505 155 136 46 43 47 5.065 24460 chr17 13972955 13972955 C T rs8076787 COX10 Synonymous SNV R11R 0.041 0.029 0.031 16 48 11 0.041 9 1 0 0 1 Benign/Likely benign 12.02 24461 chr6 26388405 26388405 G A rs62617839 BTN2A2 Nonsynonymous SNV G87S 0.072 0.057 0.078 36 84 22 0.092 23 7 0 2 1 23.1 24462 chr16 88600792 88600792 C T rs75878389 ZFPM1 Nonsynonymous SNV P809L 0.04 0.044 0.041 23 47 17 0.059 12 0 1 1 0 23.4 24463 chr5 169695446 169695446 C T rs2292254 LCP2 Synonymous SNV V188V 0.141 0.135 0.194 55 165 52 0.141 57 64 20 12 18 10.9 24464 chr19 12186922 12186922 G T rs8112094 ZNF844 Synonymous SNV V329V 0.08 0.063 0.095 28 94 24 0.072 28 5 0 0 0 7.869 24465 chr17 20108184 20108184 C G rs9908032 SPECC1 Nonsynonymous SNV S193R 0.072 0.07 0.092 29 84 27 0.074 27 4 0 2 1 23.7 24466 chr17 13980058 13980058 A T rs2230351 COX10 Nonsynonymous SNV T62S 0.041 0.029 0.031 16 48 11 0.041 9 1 0 0 1 Benign/Likely benign 17.1 24467 chr5 169701335 169701335 G A rs202068772 LCP2 Synonymous SNV H98H 0.003 0.005 0.003 6 3 2 0.015 1 0 0 0 0 0.8 24468 chr19 12187210 12187210 A G rs6511764 ZNF844 Synonymous SNV V425V 0.17 0.18 0.194 58 200 69 0.149 57 16 5 7 4 2.885 24469 chr6 26393021 26393021 G A rs1614887 BTN2A2 Synonymous SNV S256S 0.52 0.505 0.558 222 611 194 0.569 164 154 44 45 64 11.16 24470 chr19 12187861 12187861 T G rs10426017 ZNF844 Nonsynonymous SNV I642M 0.171 0.18 0.197 58 201 69 0.149 58 16 5 7 4 11.17 24471 chr5 171481606 171481606 A G rs10155597 STK10 Synonymous SNV C873C 0.478 0.466 0.432 178 561 179 0.456 127 128 41 27 37 2.213 24472 chr6 26405835 26405835 G A rs56161420 BTN3A1 Nonsynonymous SNV R15H 0.161 0.146 0.18 74 189 56 0.19 53 22 1 2 8 0.007 24473 chr16 88677721 88677726 GAGCGG - rs529387142 ZC3H18 E422_R423del 0.014 0.008 0.007 4 16 3 0.01 2 0 0 0 0 24474 chr19 12187907 12187907 G A rs55703333 ZNF844 Nonsynonymous SNV V658I 0.009 0.026 0.014 3 11 10 0.008 4 0 1 0 0 0.151 24475 chr17 21207844 21207844 C T rs2230436 MAP2K3 Synonymous SNV A196A 0.411 0.406 0.446 157 483 156 0.403 131 0 0 0 0 Likely benign 20.6 24476 chr6 26406255 26406255 G A rs3857550 BTN3A1 Synonymous SNV V68V 0.335 0.307 0.323 127 393 118 0.326 95 74 17 23 25 9.619 24477 chr6 26443853 26443853 C A rs17611438 BTN3A3 Synonymous SNV S17S 0.166 0.143 0.18 77 195 55 0.197 53 24 1 2 8 11.03 24478 chr5 171533782 171533782 T C rs2306961 STK10 Synonymous SNV K210K 0.239 0.253 0.245 121 281 97 0.31 72 34 13 9 17 2.519 24479 chr19 12222381 12222381 C G rs1866382 ZNF788P Nonsynonymous SNV R7G 0.919 0.919 0.949 369 1079 353 0.946 279 495 162 132 175 0.023 24480 chr16 85945249 85945249 C T rs16939945 IRF8 Synonymous SNV D154D 0.021 0.026 0.007 11 25 10 0.028 2 0 0 0 0 Benign 11.06 24481 chr17 10222149 10222149 A G rs2074873 MYH13 Synonymous SNV I1232I 0.118 0.115 0.15 50 138 44 0.128 44 9 3 4 2 9.278 24482 chr6 26446209 26446209 C T rs3846848 BTN3A3 Synonymous SNV I237I 0.166 0.143 0.18 77 195 55 0.197 53 24 1 2 8 11.87 24483 chr19 12222861 12222861 T C rs1975349 ZNF788P Nonsynonymous SNV C167R 0.215 0.216 0.238 84 252 83 0.215 70 25 7 8 7 14.17 24484 chr17 10223697 10223697 G T rs2074876 MYH13 Nonsynonymous SNV D1076E 0.118 0.115 0.15 51 138 44 0.131 44 10 3 4 3 22.7 24485 chr6 26468660 26468660 G A rs3734544 BTN2A1 Synonymous SNV R428R 0.148 0.13 0.173 63 174 50 0.162 51 15 2 4 6 8.237 24486 chr5 172662024 172662024 T C rs2277923 NKX2-5 Synonymous SNV E21E 0.32 0.315 0.136 141 376 121 0.362 40 61 19 11 25 Benign 0.817 24487 chr16 88709869 88709869 C T rs72547284 CYBA Synonymous SNV P160P 0.009 0.021 0.014 5 10 8 0.013 4 2 0 1 0 Benign 18.69 24488 chr19 12224172 12224172 T C rs8109273 ZNF788P Nonsynonymous SNV Y604H 0.1 0.115 0.105 39 117 44 0.1 31 4 4 2 2 0.006 24489 chr6 26501897 26501897 T C rs1321479 BTN1A1 Synonymous SNV S53S 0.448 0.482 0.442 168 526 185 0.431 130 116 44 29 37 2.728 24490 chr19 12256912 12256912 C T rs7258368 ZNF625 Nonsynonymous SNV V107M 0.112 0.102 0.129 44 132 39 0.113 38 11 1 2 1 0.006 24491 chr5 175792605 175792605 G C rs2303667 ARL10 Synonymous SNV L13L 0.526 0.508 0.235 215 617 195 0.551 69 207 72 29 68 1.158 24492 chr6 26505362 26505362 G A rs3736781 BTN1A1 Nonsynonymous SNV A213T 0.45 0.482 0.442 168 528 185 0.431 130 118 44 29 37 0.119 24493 chr5 175811094 175811094 - AT rs56989856 NOP16, NOP16 Frameshift insertion R196Hfs*38 0.142 0.167 0.014 54 167 64 0.138 4 14 4 2 3 24494 chr19 1231142 1231142 T C rs8110590 CBARP Nonsynonymous SNV H371R 0.447 0.479 0.425 193 525 184 0.495 125 120 47 33 49 0.004 24495 chr6 26505403 26505403 C A rs3736782 BTN1A1 Synonymous SNV G226G 0.449 0.482 0.442 168 527 185 0.431 130 117 44 29 37 14.8 24496 chr16 86613143 86613143 G A rs62051072 FOXL1 Nonsynonymous SNV G272S 0.021 0.039 0.017 6 25 15 0.015 5 1 0 0 0 0.685 24497 chr6 26509330 26509330 C G rs9393728 BTN1A1 Nonsynonymous SNV D503E 0.451 0.482 0.442 168 529 185 0.431 130 118 44 29 37 0.01 24498 chr16 88502598 88502598 G C rs756344990 ZNF469 Nonsynonymous SNV R2907P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.59 24499 chr19 12384580 12384580 T C rs11879168 ZNF44 Nonsynonymous SNV T132A 0.164 0.148 0.177 70 192 57 0.179 52 24 5 5 5 12.17 24500 chr6 26545632 26545632 G A rs4871 HMGN4 Synonymous SNV G66G 0.451 0.482 0.442 168 529 185 0.431 130 119 44 29 37 10.06 24501 chr19 1256998 1256998 C T rs9823 MIDN Synonymous SNV D378D 0.295 0.318 0.289 130 346 122 0.333 85 58 20 15 21 12.46 24502 chr19 12576049 12576049 G A rs7259240 ZNF709 Synonymous SNV C229C 0.405 0.393 0.391 158 476 151 0.405 115 88 27 24 27 9.223 24503 chr6 26597333 26597333 A G rs3800302 ABT1 Synonymous SNV K41K 0.533 0.568 0.527 215 626 218 0.551 155 164 63 44 53 5.525 24504 chr19 1268178 1268178 G A rs12975875 CIRBP-AS1 0 0 0.718 0 0 0 0 211 0 0 91 0 10.06 24505 chr6 26598188 26598188 A G rs3800303 ABT1 Synonymous SNV G96G 0.36 0.406 0.347 139 423 156 0.356 102 73 34 19 27 0.246 24506 chr19 12692001 12692001 G A rs3745651 ZNF490 Synonymous SNV H296H 0.498 0.539 0.52 194 585 207 0.497 153 145 56 41 48 1.247 24507 chr16 87348663 87348663 T G rs61748957 C16orf95 Nonsynonymous SNV T82P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.82 24508 chr6 27223065 27223079 AAGGAGAGCCAGATT - rs141138864 PRSS16 E507_K511del 0.176 0.185 0.102 77 207 71 0.197 30 17 10 2 5 24509 chr5 176017455 176017455 C T rs2291442 CDHR2 Nonsynonymous SNV T1128M 0.284 0.253 0.282 75 334 97 0.192 83 53 10 13 5 9.814 24510 chr19 1270232 1270232 C - rs398033678 CIRBP-AS1 0 0 0.779 0 0 0 0 229 0 0 98 0 24511 chr19 1272040 1272040 T C rs12488 CIRBP Synonymous SNV Y164Y 0.857 0.862 0.844 332 1006 331 0.851 248 428 142 103 140 0.033 24512 chr6 27277051 27277051 C T rs41269255 POM121L2 Nonsynonymous SNV A967T 0.193 0.177 0.211 67 227 68 0.172 62 27 10 12 4 11.44 24513 chr19 12763267 12763267 C T rs543222535 MAN2B1 Nonsynonymous SNV R613Q 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 24514 chr6 27277402 27277402 C T rs6456773 POM121L2 Nonsynonymous SNV G850S 0.953 0.943 0.963 369 1119 362 0.946 283 532 173 136 175 6.956 24515 chr17 10404653 10404653 C T rs144827751 MYH1 Nonsynonymous SNV R1171Q 0.007 0.005 0.01 4 8 2 0.01 3 0 0 0 0 28.7 24516 chr19 1277275 1277275 G C rs757292 FAM174C Synonymous SNV V125V 0.868 0.87 0.84 339 1019 334 0.869 247 438 145 102 147 2.582 24517 chr19 13008607 13008607 G T rs1060218 GCDH Synonymous SNV G391G 0.374 0.383 0.33 160 439 147 0.41 97 78 25 17 34 Benign 6.583 24518 chr19 13010520 13010520 A G rs8012 GCDH Nonsynonymous SNV Q417R 0.578 0.589 0.527 231 678 226 0.592 155 204 71 44 70 Benign 0.302 24519 chr6 27279774 27279774 C T rs17688097 POM121L2 Nonsynonymous SNV R59Q 0.04 0.049 0.048 13 47 19 0.033 14 2 0 0 0 16.73 24520 chr17 17398826 17398826 G A rs757255759 RASD1 Synonymous SNV R153R 0 0.005 0 0 0 2 0 0 0 0 0 0 14.44 24521 chr19 13015396 13015396 C A rs777316950 SYCE2 Nonsynonymous SNV K72N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.2 24522 chr17 21318821 21318821 A C rs1714865 KCNJ12, KCNJ18 Nonsynonymous SNV E56A 0.334 0.326 0.194 125 392 125 0.321 57 0 0 0 0 9.891 24523 chr6 27279852 27279852 T C rs2235233 POM121L2 Nonsynonymous SNV Q33R 0.204 0.211 0.18 77 240 81 0.197 53 25 9 7 7 0.008 24524 chr5 176026122 176026134 CAAAGACCCAGGA - rs761227225 GPRIN1 D234Efs*44 0.284 0.253 0.286 75 334 97 0.192 84 53 10 13 5 24525 chr19 13387904 13387904 A G rs16030 CACNA1A Synonymous SNV F1288F 0.198 0.159 0.276 68 232 61 0.174 81 24 8 10 5 Benign 8.527 24526 chr5 176026136 176026146 CCTCCTTCCTC - rs749944557 GPRIN1 R231Sfs*238 0.284 0.253 0.286 75 334 97 0.192 84 53 10 13 5 24527 chr19 13445208 13445208 C T rs2248069 CACNA1A Synonymous SNV E394E 0.653 0.622 0.595 270 767 239 0.692 175 256 76 59 100 Benign 13.2 24528 chr5 176070106 176070106 C T rs114992074 EIF4E1B Synonymous SNV I13I 0.003 0.016 0 3 3 6 0.008 0 0 0 0 0 10.38 24529 chr6 27420588 27420588 G A rs61736957 ZNF184 Synonymous SNV Y250Y 0.135 0.133 0.119 54 159 51 0.138 35 6 3 4 3 0.183 24530 chr19 1357082 1357082 T C rs713042 PWWP3A Synonymous SNV S44S 0.823 0.839 0.806 311 966 322 0.797 237 396 137 93 123 6.398 24531 chr5 176070128 176070128 A G rs73806058 EIF4E1B Nonsynonymous SNV K21E 0.003 0.013 0 3 3 5 0.008 0 0 0 0 0 0.003 24532 chr6 27425185 27425185 C A rs1883216 ZNF184 Nonsynonymous SNV A27S 0.748 0.708 0.65 292 878 272 0.749 191 324 98 58 106 12.34 24533 chr19 1360575 1360575 G A rs3826942 PWWP3A Nonsynonymous SNV G151R 0.79 0.799 0.772 294 927 307 0.754 227 366 124 85 111 0.003 24534 chr17 21318918 21318918 G A rs79626424 KCNJ12, KCNJ18 Synonymous SNV S88S 0.312 0.289 0.425 122 366 111 0.313 125 0 0 0 0 7.423 24535 chr5 176081907 176081907 C T rs11267007 TSPAN17 Synonymous SNV C90C 0.297 0.263 0.31 102 349 101 0.262 91 54 11 16 11 15.19 24536 chr19 1388538 1388538 C T rs1142530 NDUFS7 Nonsynonymous SNV P23L 0.667 0.672 0.626 261 783 258 0.669 184 266 87 62 85 Benign 4.166 24537 chr16 88691616 88691616 G A rs139603213 ZC3H18 Synonymous SNV T683T 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 8.344 24538 chr6 27839746 27839746 T C rs200956 H3C11 Synonymous SNV K116K 0.105 0.125 0.126 48 123 48 0.123 37 7 3 2 4 0.013 24539 chr17 16347325 16347325 T C rs61745139 LRRC75A Nonsynonymous SNV R166G 0.11 0.12 0.139 30 129 46 0.077 41 5 2 2 0 5.48 24540 chr6 28056646 28056646 T G rs35027728 ZNF165 Nonsynonymous SNV F286V 0.022 0.047 0.014 17 26 18 0.044 4 0 0 0 1 12.86 24541 chr5 176304967 176304967 G A rs61736275 UNC5A Nonsynonymous SNV V570I 0.015 0.023 0.017 9 18 9 0.023 5 0 0 0 0 6.299 24542 chr19 13988416 13988416 A G rs2016163 NANOS3 Synonymous SNV T118T 0.217 0.245 0.19 75 255 94 0.192 56 23 11 4 7 0.013 24543 chr17 1780584 1780584 C T rs755486139 RPA1 Synonymous SNV F209F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 24544 chr17 1636950 1636950 C A rs11657394 WDR81 Nonsynonymous SNV P337H 0.052 0.044 0.048 18 61 17 0.046 14 1 0 0 1 16.85 24545 chr19 14000170 14000170 T C rs3803892 C19orf57 Nonsynonymous SNV Q382R 0.204 0.237 0.173 72 239 91 0.185 51 22 11 4 6 0.007 24546 chr6 28120898 28120898 G A rs17774663 ZKSCAN8 Synonymous SNV Q93Q 0.106 0.112 0.116 46 124 43 0.118 34 6 0 2 5 0.005 24547 chr17 1782952 1782952 A G rs5030755 RPA1 Nonsynonymous SNV T338A 0.07 0.073 0.048 22 82 28 0.056 14 3 1 0 0 11.45 24548 chr16 87678384 87678384 C T rs142274475 JPH3 Synonymous SNV G301G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.151 24549 chr19 14000400 14000400 A G rs3803891 C19orf57 Synonymous SNV P305P 0.204 0.237 0.173 72 239 91 0.185 51 22 11 4 6 0.043 24550 chr6 28195521 28195521 A G rs12197427 ZSCAN9 Synonymous SNV L158L 0.045 0.055 0.044 17 53 21 0.044 13 2 1 0 1 6.43 24551 chr19 14000870 14000870 C T rs2305775 C19orf57 Nonsynonymous SNV G149R 0.204 0.237 0.173 72 239 91 0.185 51 22 11 4 6 18.64 24552 chr17 21217476 21217476 C A rs116715468 MAP2K3 Synonymous SNV T297T 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 19.05 24553 chr6 28227436 28227436 A G rs12000 NKAPL Nonsynonymous SNV Y96C 0.259 0.31 0.262 117 304 119 0.3 77 39 17 10 16 9.926 24554 chr5 176370402 176370402 A G rs13360277 UIMC1 Nonsynonymous SNV C511R 0.067 0.104 0.085 24 79 40 0.062 25 0 3 1 0 0.295 24555 chr19 14015711 14015711 C A rs6511898 C19orf57 Nonsynonymous SNV D138Y 0.204 0.237 0.173 72 239 91 0.185 51 22 11 4 6 7.574 24556 chr19 14030689 14030689 T C rs10410239 CC2D1A Synonymous SNV G427G 0.225 0.232 0.201 75 264 89 0.192 59 30 8 4 10 Benign 0.085 24557 chr6 28227604 28227604 C A rs1635 NKAPL Nonsynonymous SNV T152N 0.057 0.076 0.034 24 67 29 0.062 10 1 0 0 1 2.902 24558 chr19 14083761 14083761 T C rs2305780 RFX1 Nonsynonymous SNV T370A 0.491 0.536 0.418 184 577 206 0.472 123 142 53 29 40 0.419 24559 chr6 28228342 28228342 A G rs1679709 NKAPL Nonsynonymous SNV E398G 0.905 0.917 0.874 352 1062 352 0.903 257 480 162 114 160 12.58 24560 chr19 14142705 14142705 C T rs113593439 IL27RA Synonymous SNV A7A 0.078 0.065 0.071 28 91 25 0.072 21 5 0 0 2 15.31 24561 chr19 14165278 14165278 G A rs56202530 PALM3 Synonymous SNV G336G 0.122 0.133 0.139 61 143 51 0.156 41 5 3 5 2 9.059 24562 chr16 87795633 87795633 G A rs143424147 KLHDC4 Nonsynonymous SNV A38V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.1 24563 chr5 176506493 176506493 C T rs4277932 ZNF346 Synonymous SNV D191D 0.044 0.089 0 13 52 34 0.033 0 0 3 0 0 11.27 24564 chr19 14165598 14165598 C T rs56361194 PALM3 Nonsynonymous SNV V230M 0.025 0.039 0.027 9 29 15 0.023 8 0 0 0 0 17.73 24565 chr17 18047189 18047189 G A rs2272571 MYO15A Nonsynonymous SNV G2018R 0.077 0.081 0.092 39 90 31 0.1 27 3 2 1 1 Benign 7.888 24566 chr6 28264681 28264681 G A rs3800324 PGBD1 Nonsynonymous SNV G244E 0.053 0.065 0.024 23 62 25 0.059 7 2 0 0 1 7.795 24567 chr17 21318741 21318741 C T rs75113504 KCNJ12, KCNJ18 Synonymous SNV N29N 0.11 0.115 0.187 48 129 44 0.123 55 0 0 0 0 9.321 24568 chr19 14561722 14561722 A G rs8107892 PKN1 Synonymous SNV L257L 0.993 0.974 0.901 387 1166 374 0.992 265 579 183 130 192 7.996 24569 chr17 21318760 21318760 G T rs74880280 KCNJ12, KCNJ18 Nonsynonymous SNV V36L 0.124 0.135 0.19 51 145 52 0.131 56 0 0 0 0 11.94 24570 chr19 14581063 14581063 A G rs1042728 PKN1 Synonymous SNV R794R 0.055 0.029 0.068 22 64 11 0.056 20 4 0 0 2 1.12 24571 chr6 28269407 28269407 G A rs16893917 PGBD1 Nonsynonymous SNV M592I 0.053 0.065 0.024 23 62 25 0.059 7 2 0 0 1 0.133 24572 chr19 14676578 14676578 C T rs61732092 TECR Synonymous SNV G274G 0.098 0.086 0.061 37 115 33 0.095 18 5 0 0 1 Likely benign 13.38 24573 chr19 1467684 1467684 A C rs265273 APC2 Synonymous SNV R1461R 0.933 0.953 0.932 369 1095 366 0.946 274 519 177 132 175 0.003 24574 chr6 28269663 28269663 A G rs1997660 PGBD1 Nonsynonymous SNV I678V 0.296 0.323 0.323 126 348 124 0.323 95 60 20 15 16 0.003 24575 chr19 14682804 14682804 G C rs9543 NDUFB7 Synonymous SNV A3A 0.543 0.51 0.439 204 638 196 0.523 129 164 52 34 53 4.66 24576 chr19 14694175 14694175 - GGA rs34295949 CLEC17A E22_D23insE 0.067 0.055 0.061 22 79 21 0.056 18 1 0 0 0 24577 chr16 88786328 88786328 C T rs199752762 PIEZO1 Nonsynonymous SNV V2069M 0.003 0.003 0.007 2 4 1 0.005 2 0 0 1 0 Uncertain significance 28.8 24578 chr19 14705574 14705574 T C rs78269670 CLEC17A Nonsynonymous SNV L122P 0.068 0.055 0.061 25 80 21 0.064 18 1 0 0 0 9.147 24579 chr6 28294550 28294550 T C rs853684 ZSCAN31 Nonsynonymous SNV K46R 0.317 0.328 0.33 132 372 126 0.338 97 66 21 17 19 0.003 24580 chr17 18167397 18167397 G T rs3889402 MIEF2 Nonsynonymous SNV A204S 0.095 0.096 0.109 28 112 37 0.072 32 5 2 2 0 4.091 24581 chr19 14752325 14752325 C T rs45508602 ADGRE3 Nonsynonymous SNV R259Q 0.82 0.828 0.867 302 963 318 0.774 255 397 130 111 116 17.22 24582 chr6 28327371 28327371 G C rs733743 ZKSCAN3 Nonsynonymous SNV R3T 0.037 0.029 0.034 16 43 11 0.041 10 2 0 1 0 16.56 24583 chr19 14758168 14758168 G A rs34226397 ADGRE3 Nonsynonymous SNV A110V 0.373 0.331 0.357 156 438 127 0.4 105 82 18 14 29 3.426 24584 chr6 28359170 28359170 A G rs2859348 ZSCAN12 Synonymous SNV D299D 0.343 0.346 0.408 148 403 133 0.379 120 75 20 25 27 0.025 24585 chr17 18167684 18167684 G A rs12603700 MIEF2 Nonsynonymous SNV G324E 0.099 0.094 0.109 28 116 36 0.072 32 4 1 2 0 23.6 24586 chr19 14769339 14769339 C G rs4606855 ADGRE3 Nonsynonymous SNV E75Q 0.698 0.706 0.677 287 820 271 0.736 199 294 96 67 104 0.002 24587 chr6 28359186 28359186 C T rs2232430 ZSCAN12 Nonsynonymous SNV R294K 0.03 0.018 0.031 12 35 7 0.031 9 2 0 1 0 17.7 24588 chr19 14817548 14817548 T A rs6511961 ZNF333 Synonymous SNV T158T 0.654 0.688 0.656 274 768 264 0.703 193 244 91 59 97 2.775 24589 chr6 33648228 33648228 C T rs2229638 ITPR3 Synonymous SNV A1449A 0.905 0.924 0.915 366 1063 355 0.938 269 485 163 123 172 13.35 24590 chr17 12899902 12899902 C T rs5030739 ELAC2 Nonsynonymous SNV A501T 0.034 0.021 0.044 11 40 8 0.028 13 2 0 0 0 Benign 19.52 24591 chr19 14862430 14862430 C G rs2524383 ADGRE2 Nonsynonymous SNV L556F 0.715 0.724 0.714 297 839 278 0.762 210 300 100 77 114 7.659 24592 chr6 33653486 33653486 G A rs12528378 ITPR3 Nonsynonymous SNV R1850Q 0.071 0.073 0.092 36 83 28 0.092 27 2 1 1 1 19.96 24593 chr19 14875388 14875388 G A rs35612307 ADGRE2 Nonsynonymous SNV A314V 0.289 0.276 0.289 94 339 106 0.241 85 51 14 15 12 7.685 24594 chr6 33703089 33703089 C T rs623813 IP6K3 Synonymous SNV P55P 0.127 0.117 0.163 60 149 45 0.154 48 9 5 3 3 17.56 24595 chr6 33703230 33703230 G A rs545787 IP6K3 Synonymous SNV D8D 0.29 0.229 0.31 116 340 88 0.297 91 52 12 17 19 0.41 24596 chr19 14877799 14877799 G C rs12976472 ADGRE2 Nonsynonymous SNV L160V 0.446 0.38 0.408 154 524 146 0.395 120 241 67 43 65 not provided 0.009 24597 chr6 34498328 34498328 C T rs41312309 PACSIN1 Nonsynonymous SNV A334V 0.072 0.089 0.044 21 85 34 0.054 13 4 2 1 1 8.875 24598 chr19 14910438 14910438 C T rs10415312 OR7C1 Nonsynonymous SNV E171K 0.893 0.935 0.922 357 1048 359 0.915 271 470 167 125 163 4.912 24599 chr5 176917897 176917897 C T rs1132445 PDLIM7 Synonymous SNV P182P 0.03 0.06 0.058 21 35 23 0.054 17 0 1 0 1 15.93 24600 chr6 34664207 34664207 T G rs3800456 LOC101929243 0.792 0.789 0.738 328 930 303 0.841 217 368 124 81 141 11.11 24601 chr19 14910573 14910573 C T rs10415562 OR7C1 Nonsynonymous SNV V126I 0.652 0.732 0.707 289 766 281 0.741 208 264 102 73 104 6.213 24602 chr6 34803947 34803947 C T rs4259246 UHRF1BP1 Synonymous SNV A285A 0.391 0.391 0.449 121 459 150 0.31 132 93 25 33 22 13.54 24603 chr19 14938616 14938616 T C rs2190686 OR7A5 Synonymous SNV L146L 0.344 0.357 0.361 148 404 137 0.379 106 69 23 19 22 0.026 24604 chr6 34824636 34824636 A G rs11755393 UHRF1BP1 Nonsynonymous SNV Q454R 0.392 0.393 0.452 122 460 151 0.313 133 94 25 33 22 8.907 24605 chr19 14991643 14991643 G A rs10401818 OR7A17 Synonymous SNV P175P 0.279 0.25 0.252 92 327 96 0.236 74 53 15 8 8 4.326 24606 chr19 14991963 14991963 C A rs10404119 OR7A17 Nonsynonymous SNV A69S 0.256 0.263 0.255 100 301 101 0.256 75 36 12 10 10 9.949 24607 chr6 34825662 34825662 T C rs16894959 UHRF1BP1 Synonymous SNV L579L 0.14 0.141 0.15 36 164 54 0.092 44 13 6 4 2 0.005 24608 chr17 19644472 19644472 A T rs2072330 ALDH3A1 Synonymous SNV P247P 0.287 0.268 0.289 109 337 103 0.279 85 48 14 17 12 0.053 24609 chr17 2202323 2202323 T C rs34047637 SMG6 Nonsynonymous SNV N575S 0.096 0.099 0.051 30 113 38 0.077 15 5 3 0 2 0.033 24610 chr6 34827085 34827085 A T rs9469913 UHRF1BP1 Nonsynonymous SNV Q984H 0.168 0.154 0.173 39 197 59 0.1 51 14 7 6 2 0.322 24611 chr19 14992031 14992031 A G rs10405129 OR7A17 Nonsynonymous SNV I46T 0.257 0.263 0.262 103 302 101 0.264 77 36 12 10 10 24.7 24612 chr19 14992042 14992042 A G rs10405136 OR7A17 Synonymous SNV N42N 0.462 0.406 0.459 164 542 156 0.421 135 124 28 34 24 0.003 24613 chr6 34831856 34831856 T C rs13205210 UHRF1BP1 Nonsynonymous SNV M1098T 0.164 0.172 0.177 59 193 66 0.151 52 14 2 6 3 25.4 24614 chr5 177419967 177419967 C T rs1800197 PROP1 Nonsynonymous SNV A142T 0.204 0.245 0.231 82 239 94 0.21 68 24 12 9 9 Benign 0.002 24615 chr19 14992045 14992045 C T rs10404335 OR7A17 Synonymous SNV G41G 0.29 0.297 0.286 116 340 114 0.297 84 43 17 14 15 7.985 24616 chr19 15052665 15052665 G A rs11883178 OR7C2 Nonsynonymous SNV R122H 0.014 0.018 0.014 9 17 7 0.023 4 0 0 0 0 25.1 24617 chr6 34831866 34831866 G A rs3734264 UHRF1BP1 Synonymous SNV T1101T 0.383 0.388 0.452 122 450 149 0.313 133 92 25 33 22 9.797 24618 chr17 15341183 15341183 A C rs2954759 CDRT4 Nonsynonymous SNV H122Q 0.141 0.117 0.105 46 166 45 0.118 31 13 3 3 2 0.001 24619 chr19 15052983 15052983 - ATC rs3044711 OR7C2 S229_A230insS 0.988 0.992 0.99 387 1160 381 0.992 291 573 189 144 192 24620 chr6 34949607 34949607 C T rs2293242 ANKS1A Synonymous SNV Y192Y 0.709 0.721 0.694 297 832 277 0.762 204 298 99 74 114 11.24 24621 chr19 15053181 15053181 A G rs74951519 OR7C2 Nonsynonymous SNV K294R 0.014 0.018 0.014 9 17 7 0.023 4 0 0 0 0 0.002 24622 chr6 35027927 35027927 T C rs820085 ANKS1A Nonsynonymous SNV L694S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.07 24623 chr19 15063757 15063757 A G rs2229896 SLC1A6 Synonymous SNV I494I 0.118 0.112 0.105 34 139 43 0.087 31 7 3 2 2 7.443 24624 chr19 15083693 15083693 C A rs3746295 SLC1A6 Synonymous SNV L10L 0.418 0.388 0.364 147 491 149 0.377 107 112 26 18 23 16 24625 chr6 35050478 35050478 G A rs140146413 ANKS1A Nonsynonymous SNV R907H 0.003 0.008 0.003 5 3 3 0.013 1 0 0 0 0 19.44 24626 chr17 2236404 2236404 T C rs2281726 TSR1 Nonsynonymous SNV S386G 0.139 0.135 0.078 51 163 52 0.131 23 13 4 1 4 11.58 24627 chr5 177547336 177547336 G A rs3812082 N4BP3 Nonsynonymous SNV R163Q 0.152 0.172 0.177 69 179 66 0.177 52 12 3 5 5 0.098 24628 chr19 1510661 1510661 A G rs265291 ADAMTSL5 Synonymous SNV S56S 0.892 0.883 0.837 347 1047 339 0.89 246 472 151 111 157 0.016 24629 chr17 17697093 17697093 - CAGCAGCAGCAG rs587780428 RAI1 Q291_A292insQQQQ 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 24630 chr6 35050506 35050506 G A rs2177382 ANKS1A Synonymous SNV P916P 0.805 0.815 0.772 292 945 313 0.749 227 381 124 89 112 14.65 24631 chr17 2238675 2238675 A G rs61743762 TSR1 Synonymous SNV V145V 0.062 0.076 0.034 21 73 29 0.054 10 1 2 0 1 0.003 24632 chr19 15122045 15122045 C A rs35647251 CCDC105 Synonymous SNV T136T 0.167 0.156 0.146 64 196 60 0.164 43 15 4 4 2 22.9 24633 chr5 177562251 177562251 G A rs10060446 RMND5B Nonsynonymous SNV S13N 0.726 0.729 0.541 283 852 280 0.726 159 337 108 71 102 2.381 24634 chr19 15133762 15133762 G C rs8111625 CCDC105 Nonsynonymous SNV S444T 0.911 0.891 0.864 337 1069 342 0.864 254 488 151 109 147 0.004 24635 chr6 35088381 35088381 C G rs2234045 TCP11 Nonsynonymous SNV G112A 0.168 0.172 0.197 88 197 66 0.226 58 14 3 5 11 4.015 24636 chr17 2266799 2266799 G A rs745400 SGSM2 Nonsynonymous SNV R238K 0.43 0.427 0.381 171 505 164 0.438 112 113 37 23 36 19.13 24637 chr5 177573274 177573274 G A rs139570120 RMND5B Nonsynonymous SNV S272N 0.002 0.008 0.01 1 2 3 0.003 3 0 0 0 0 25 24638 chr19 15198263 15198263 A G rs8105277 OR1I1 Synonymous SNV P129P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 24639 chr6 35090097 35090097 T C rs2234044 TCP11 Synonymous SNV L92L 0.167 0.172 0.197 88 196 66 0.226 58 14 3 5 11 7.934 24640 chr17 2266812 2266812 T C rs2003968 SGSM2 Synonymous SNV C242C 0.428 0.435 0.381 171 503 167 0.438 112 111 39 23 36 0.078 24641 chr19 15198292 15198292 C G rs8104843 OR1I1 Nonsynonymous SNV P139R 0.848 0.844 0.816 335 996 324 0.859 240 421 140 99 144 0.001 24642 chr5 177659519 177659519 C G rs116735771 PHYKPL Synonymous SNV T11T 0.036 0.049 0.01 20 42 19 0.051 3 1 0 1 1 12.62 24643 chr6 35108553 35108553 T G rs35693439 TCP11 Nonsynonymous SNV D32A 0.168 0.164 0.201 88 197 63 0.226 59 14 3 5 11 0.117 24644 chr17 15554504 15554504 G A rs4792642 TRIM16 Synonymous SNV A140A 0.229 0.229 0.218 97 269 88 0.249 64 32 10 8 8 12.32 24645 chr17 2268311 2268311 G A rs2248821 SGSM2 Nonsynonymous SNV R374Q 0.426 0.422 0.388 171 500 162 0.438 114 111 34 24 37 24.7 24646 chr5 177683377 177683377 T C rs890802 COL23A1 Nonsynonymous SNV T287A 0.589 0.578 0.548 222 692 222 0.569 161 211 61 49 62 0.001 24647 chr19 15198507 15198507 T C rs8108721 OR1I1 Nonsynonymous SNV F211L 0.848 0.844 0.816 335 996 324 0.859 240 421 140 99 144 0.032 24648 chr16 89294418 89294418 G A rs185218561 ZNF778 Synonymous SNV S546S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 8.54 24649 chr6 35260503 35260503 C T rs1557567 ZNF76 Synonymous SNV H368H 0.773 0.818 0.728 306 907 314 0.785 214 350 128 73 118 13.61 24650 chr5 177683905 177683905 G A rs61739424 COL23A1 Nonsynonymous SNV R267W 0.055 0.073 0.024 20 65 28 0.051 7 2 1 0 1 23.1 24651 chr6 35260530 35260530 C T rs1557568 ZNF76 Synonymous SNV S377S 0.773 0.818 0.728 306 907 314 0.785 214 350 128 73 118 16.3 24652 chr19 15198631 15198631 A C rs8105737 OR1I1 Nonsynonymous SNV Y252S 0.708 0.672 0.663 290 831 258 0.744 195 294 90 63 110 23.1 24653 chr17 2595964 2595964 G A rs2302199 CLUH Synonymous SNV A1113A 0.426 0.391 0.459 152 500 150 0.39 135 113 29 30 34 10.98 24654 chr6 35285720 35285720 A C rs2395617 DEF6 Nonsynonymous SNV N287T 0.892 0.896 0.867 340 1047 344 0.872 255 466 153 110 149 16.76 24655 chr17 260299 260299 G A rs4581766 C17orf97 Nonsynonymous SNV E56K 0.193 0.141 0.068 75 227 54 0.192 20 16 4 4 5 29.4 24656 chr19 15198764 15198764 T C rs12975625 OR1I1 Synonymous SNV D296D 0.89 0.896 0.864 355 1045 344 0.91 254 465 154 108 160 0.005 24657 chr5 177987740 177987740 C T rs34594012 COL23A1 Nonsynonymous SNV G102R 0.139 0.146 0.136 69 163 56 0.177 40 9 5 1 6 22.5 24658 chr19 15226970 15226970 G A rs2074262 ILVBL Synonymous SNV L488L 0.461 0.464 0.422 194 541 178 0.497 124 121 42 25 47 3.072 24659 chr16 89249985 89249985 A G rs147301479 CDH15 Synonymous SNV G129G 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 Benign 6.623 24660 chr16 88706330 88706330 C T rs11076688 IL17C Synonymous SNV S148S 0.078 0.06 0.044 25 92 23 0.064 13 1 0 0 1 13.21 24661 chr6 35391787 35391787 C T rs2076167 PPARD Synonymous SNV N65N 0.711 0.732 0.653 272 835 281 0.697 192 290 103 63 95 3.572 24662 chr19 15227030 15227030 G A rs2074263 ILVBL Synonymous SNV G468G 0.728 0.706 0.697 287 855 271 0.736 205 304 96 70 102 8.19 24663 chr19 15233581 15233581 C A rs2074265 ILVBL Synonymous SNV L213L 0.434 0.422 0.374 153 510 162 0.392 110 114 31 22 28 11.97 24664 chr6 35423662 35423662 A C rs4713867 FANCE Synonymous SNV P129P 0.724 0.693 0.714 257 850 266 0.659 210 309 96 74 88 Benign 0.014 24665 chr17 26519204 26519204 C T rs3182380 NLK Synonymous SNV I498I 0.086 0.099 0.065 33 101 38 0.085 19 6 1 0 4 13.88 24666 chr19 15272000 15272000 C T NOTCH3 Nonsynonymous SNV G2147S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.436 24667 chr6 35477025 35477025 C G rs2064318 TULP1 Nonsynonymous SNV K208N 0.775 0.792 0.793 311 910 304 0.797 233 355 123 93 122 Benign 10.27 24668 chr5 178413302 178413302 G A rs62638620 GRM6 Synonymous SNV A651A 0.006 0.01 0.003 6 7 4 0.015 1 0 0 0 0 Benign/Likely benign 0.82 24669 chr19 15285052 15285052 T C rs1044006 NOTCH3 Synonymous SNV P1521P 0.861 0.846 0.864 339 1011 325 0.869 254 438 138 110 147 Benign 7.83 24670 chr19 15291576 15291576 C G rs35769976 NOTCH3 Nonsynonymous SNV A1020P 0.012 0.013 0.017 2 14 5 0.005 5 1 0 0 0 Benign 11.66 24671 chr6 35477032 35477032 A G rs2064317 TULP1 Nonsynonymous SNV I206T 0.235 0.276 0.303 103 276 106 0.264 89 30 13 13 12 Benign 0.027 24672 chr19 15292437 15292437 T C rs1043997 NOTCH3 Synonymous SNV P914P 0.833 0.813 0.806 328 978 312 0.841 237 413 126 97 138 Benign 0.032 24673 chr6 35479574 35479574 G C rs7764472 TULP1 Nonsynonymous SNV T67R 0.785 0.789 0.656 314 922 303 0.805 193 384 131 84 126 Benign 0.002 24674 chr19 15299048 15299048 G A rs114207045 NOTCH3 Nonsynonymous SNV S497L 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 Benign/Likely benign 23.3 24675 chr17 16347001 16347001 C T rs200702301 LRRC75A Synonymous SNV R312R 0.006 0.003 0.02 0 7 1 0 6 0 0 0 0 14.39 24676 chr5 178555045 178555045 G A rs2303644 ADAMTS2 Synonymous SNV D844D 0.191 0.193 0.116 75 224 74 0.192 34 23 7 3 7 Benign 3.795 24677 chr6 35705892 35705892 T C rs2817041 ARMC12 Synonymous SNV Y84Y 0.83 0.844 0.772 326 975 324 0.836 227 405 136 86 138 0.687 24678 chr19 15302844 15302844 T C rs1043994 NOTCH3 Synonymous SNV A202A 0.843 0.831 0.833 330 990 319 0.846 245 423 132 102 140 Benign 0.002 24679 chr6 35745655 35745655 C T rs2478467 CLPSL2 Nonsynonymous SNV R79C 0.693 0.667 0.69 261 813 256 0.669 203 279 88 69 86 7.267 24680 chr19 15303225 15303225 G A rs3815188 NOTCH3 Synonymous SNV T101T 0.118 0.107 0.146 40 139 41 0.103 43 9 2 4 2 Benign 9.7 24681 chr17 2323517 2323517 C T rs17834783 METTL16 Nonsynonymous SNV S479N 0.082 0.073 0.112 24 96 28 0.062 33 3 1 2 1 9.665 24682 chr17 18220268 18220268 A G rs79875842 SMCR8 Nonsynonymous SNV I389V 0.029 0.031 0.024 6 34 12 0.015 7 1 0 0 0 Benign 0.001 24683 chr19 1535084 1535084 G A rs12984316 PLK5 Synonymous SNV P282P 0.22 0.198 0.231 79 258 76 0.203 68 34 6 9 8 10.02 24684 chr6 35748931 35748931 T C rs34109614 CLPSL1 Nonsynonymous SNV F15S 0.301 0.299 0.33 120 353 115 0.308 97 64 16 13 20 0.044 24685 chr5 178770981 178770981 A G rs2271212 ADAMTS2 Synonymous SNV S107S 0.267 0.25 0.262 102 313 96 0.262 77 47 14 12 11 Benign 0.163 24686 chr16 89293592 89293592 G A rs183870297 ZNF778 Nonsynonymous SNV R271H 0.014 0.021 0.01 2 16 8 0.005 3 0 0 0 0 0.16 24687 chr19 1535194 1535196 CCC - rs58035688 PLK5 P320del 0.226 0.198 0.235 81 265 76 0.208 69 34 6 9 9 24688 chr19 1535205 1535205 G C rs265282 PLK5 Nonsynonymous SNV G323R 0.226 0.198 0.238 80 265 76 0.205 70 35 6 9 9 0.157 24689 chr5 179036433 179036433 G A rs17355294 RUFY1 Synonymous SNV L572L 0.391 0.411 0.378 157 459 158 0.403 111 72 41 11 33 12.51 24690 chr6 35755658 35755658 A G rs12211728 CLPSL1 Synonymous SNV Q79Q 0.416 0.419 0.405 161 488 161 0.413 119 34 4 4 14 0.197 24691 chr19 15508362 15508362 G C rs2058322 AKAP8L Nonsynonymous SNV H397Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.282 24692 chr5 179201464 179201464 G A rs72807324 MAML1 Synonymous SNV P879P 0.027 0.016 0.017 15 32 6 0.038 5 0 0 0 1 7.487 24693 chr6 35803192 35803192 C A rs1049649 SRPK1 Synonymous SNV S619S 0.302 0.271 0.293 102 355 104 0.262 86 53 10 12 18 15.83 24694 chr17 25877647 25877647 T A rs56134506 KSR1 Synonymous SNV A95A 0.022 0.031 0.003 6 26 12 0.015 1 0 0 0 0 15.9 24695 chr19 15565046 15565046 G A rs9646651 RASAL3 Synonymous SNV T731T 0.168 0.185 0.136 54 197 71 0.138 40 17 4 1 4 7.372 24696 chr6 36098410 36098410 A C rs1059227 MAPK13 Synonymous SNV T17T 0.641 0.674 0.68 269 753 259 0.69 200 260 88 65 95 1.396 24697 chr19 15580290 15580290 G A rs36020076 PGLYRP2 Synonymous SNV G598G 0.173 0.19 0.211 81 203 73 0.208 62 19 8 10 10 9.516 24698 chr6 36168628 36168628 A G rs45504893 BRPF3 Nonsynonymous SNV S177G 0.126 0.117 0.102 48 148 45 0.123 30 10 2 0 2 5.606 24699 chr17 25932816 25932816 G A rs55938675 KSR1 Synonymous SNV P657P 0.013 0.008 0.031 2 15 3 0.005 9 0 0 0 0 8.675 24700 chr17 16527578 16527578 T C rs149146824 ZNF624 Nonsynonymous SNV I208V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.001 24701 chr19 15582863 15582863 C T rs34440547 PGLYRP2 Nonsynonymous SNV R394Q 0.171 0.19 0.194 81 201 73 0.208 57 19 8 10 10 11.5 24702 chr5 179225324 179225324 G A rs2291418 MIR1229 0.04 0.039 0.041 21 47 15 0.054 12 1 0 0 2 1.089 24703 chr17 260142 260142 G T rs7503725 C17orf97 Synonymous SNV T3T 0.261 0.271 0.058 100 307 104 0.256 17 38 18 5 12 12.07 24704 chr6 36270130 36270130 C A rs12199580 PNPLA1 Nonsynonymous SNV P337H 0.338 0.372 0.388 134 397 143 0.344 114 73 29 24 25 Benign 15.87 24705 chr5 179260099 179260099 G C rs55793208 SQSTM1 Nonsynonymous SNV E274D 0.043 0.047 0.017 19 50 18 0.049 5 0 0 0 1 Benign/Likely benign 0.118 24706 chr17 26955330 26955330 A C rs12602520 KIAA0100 Nonsynonymous SNV V1373G 0.125 0.12 0.082 37 147 46 0.095 24 15 4 0 1 6.286 24707 chr17 260182 260182 T C rs7502594 C17orf97 Synonymous SNV L17L 0.261 0.266 0.068 100 307 102 0.256 20 38 17 6 12 6.495 24708 chr19 15586672 15586672 A T rs892145 PGLYRP2 Nonsynonymous SNV M270K 0.282 0.279 0.35 121 331 107 0.31 103 52 12 20 23 0.013 24709 chr6 36287312 36287312 G C rs743852 BNIP5 Nonsynonymous SNV L582V 0.51 0.477 0.476 202 599 183 0.518 140 160 41 31 48 25.1 24710 chr19 15587185 15587185 C T rs733731 PGLYRP2 Nonsynonymous SNV R99Q 0.281 0.279 0.35 123 330 107 0.315 103 51 12 20 23 0.016 24711 chr17 26105932 26105932 G A rs1137933 NOS2 Synonymous SNV D385D 0.236 0.24 0.252 96 277 92 0.246 74 38 9 8 11 10.35 24712 chr6 36645588 36645588 A C rs762624 DINOL 0.294 0.359 0.303 123 345 138 0.315 89 50 22 12 21 3.787 24713 chr17 27014396 27014396 C T rs28753762 SUPT6H Synonymous SNV V971V 0.118 0.109 0.082 36 138 42 0.092 24 14 1 0 1 20.4 24714 chr19 15587345 15587345 T C rs3813135 PGLYRP2 Nonsynonymous SNV T46A 0.284 0.279 0.354 124 333 107 0.318 104 52 12 21 23 0.001 24715 chr17 27014483 27014483 C A rs28588628 SUPT6H Synonymous SNV L1000L 0.118 0.112 0.085 37 139 43 0.095 25 14 1 0 1 17.93 24716 chr6 36645696 36645696 A G rs2395655 CDKN1A Nonsynonymous SNV D28G 0.445 0.474 0.49 191 522 182 0.49 144 122 39 31 43 0.104 24717 chr5 179260231 179260231 C T rs56092424 SQSTM1 Synonymous SNV S318S 0.043 0.047 0.014 20 51 18 0.051 4 0 0 0 1 Benign/Likely benign 12.74 24718 chr17 27052358 27052358 C T rs2288595 TLCD1 Synonymous SNV T61T 0.125 0.12 0.082 37 147 46 0.095 24 15 4 0 1 13.39 24719 chr19 15760053 15760053 G A rs1053037 CYP4F3 Synonymous SNV L203L 0.192 0.206 0.221 85 225 79 0.218 65 20 5 8 11 10.92 24720 chr6 36686272 36686272 C T rs236487 RAB44 Synonymous SNV S245S 0.784 0.794 0.81 293 921 305 0.751 238 363 124 97 110 10.72 24721 chr17 27065211 27065211 T C rs3809797 NEK8 Synonymous SNV G390G 0.127 0.12 0.102 39 149 46 0.1 30 15 4 3 1 Benign 8.541 24722 chr19 15784386 15784386 C T rs16995378 CYP4F12 Nonsynonymous SNV T16M 0.91 0.911 0.891 345 1068 350 0.885 262 484 161 120 150 22.6 24723 chr16 89383359 89383359 C T rs533051571 ANKRD11 Synonymous SNV E23E 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign 15.51 24724 chr6 36689030 36689030 A C rs236478 RAB44 Synonymous SNV L373L 0.811 0.82 0.844 302 952 315 0.774 248 384 132 104 114 0.009 24725 chr17 27075423 27075423 C T rs2070265 TRAF4 Synonymous SNV F202F 0.217 0.195 0.177 72 255 75 0.185 52 30 10 4 5 11.41 24726 chr19 15789098 15789098 A G rs609636 CYP4F12 Nonsynonymous SNV N76D 0.91 0.909 0.901 345 1068 349 0.885 265 484 160 120 150 0.001 24727 chr6 36689630 36689630 C T rs236477 RAB44 Synonymous SNV A573A 0.618 0.646 0.619 240 726 248 0.615 182 227 81 57 74 9.964 24728 chr17 27085564 27085564 A G rs2043031 FAM222B Synonymous SNV L471L 0.219 0.203 0.177 72 257 78 0.185 52 31 10 4 5 0.252 24729 chr6 36689961 36689961 A C rs183541 RAB44 Synonymous SNV R684R 0.921 0.938 0.901 355 1081 360 0.91 265 499 173 120 162 0.003 24730 chr19 15789140 15789140 A G rs609290 CYP4F12 Nonsynonymous SNV I90V 0.91 0.909 0.901 345 1068 349 0.885 265 484 160 120 150 0.001 24731 chr6 36690221 36690221 G A rs773253773 RAB44 Synonymous SNV E770E 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 1.02 24732 chr6 36713263 36713263 A G rs763046 CPNE5 Synonymous SNV C60C 0.819 0.833 0.779 307 961 320 0.787 229 397 141 101 122 2.299 24733 chr17 27228198 27228198 G A rs4795474 DHRS13 Synonymous SNV R164R 0.148 0.12 0.119 46 174 46 0.118 35 18 1 1 2 9.164 24734 chr19 15793235 15793235 T C rs2285888 CYP4F12 Nonsynonymous SNV C188R 0.524 0.5 0.463 179 615 192 0.459 136 154 45 33 38 0.001 24735 chr6 36824399 36824399 C T rs2071823 PPIL1 Synonymous SNV Q81Q 0.205 0.229 0.19 92 241 88 0.236 56 30 8 3 8 14.14 24736 chr17 27284443 27284443 A G rs12941884 SEZ6 Nonsynonymous SNV M806T 0.152 0.117 0.119 50 178 45 0.128 35 18 1 2 2 8.578 24737 chr6 36867372 36867372 C A rs140986907 C6orf89 Nonsynonymous SNV P58H 0.027 0.021 0.003 14 32 8 0.036 1 0 0 0 1 13.16 24738 chr19 15807884 15807884 A G rs593818 CYP4F12 Nonsynonymous SNV S522G 0.514 0.495 0.459 178 604 190 0.456 135 147 44 33 38 0.001 24739 chr17 27286851 27286851 T C rs1976165 SEZ6 Nonsynonymous SNV T546A 0.307 0.294 0.269 124 361 113 0.318 79 54 15 10 18 15.49 24740 chr19 15852223 15852223 A C rs1966357 OR10H3 Nonsynonymous SNV R7S 0.732 0.711 0.694 280 859 273 0.718 204 313 95 73 100 0.067 24741 chr6 36922684 36922684 A C rs1405069 PI16 Nonsynonymous SNV T50P 0.472 0.487 0.422 192 554 187 0.492 124 124 47 26 47 0.002 24742 chr5 179297268 179297268 G A rs72813746 TBC1D9B Synonymous SNV F904F 0.056 0.057 0.02 29 66 22 0.074 6 3 0 0 1 9.296 24743 chr17 19741877 19741877 G A rs34670978 ULK2 Nonsynonymous SNV P242S 0.052 0.07 0.058 8 61 27 0.021 17 2 0 0 0 13.03 24744 chr5 179302921 179302921 C T rs61739270 TBC1D9B Synonymous SNV V633V 0.056 0.057 0.02 29 66 22 0.074 6 3 0 0 1 14.95 24745 chr19 15853080 15853080 G A rs2240229 OR10H3 Nonsynonymous SNV S293N 0.151 0.161 0.122 42 177 62 0.108 36 11 6 1 1 23.6 24746 chr6 36931162 36931162 A G rs2296934 PI16 Synonymous SNV E348E 0.656 0.674 0.646 260 770 259 0.667 190 246 84 59 88 0.157 24747 chr6 36976637 36976637 G C rs831510 FGD2 Nonsynonymous SNV Q32H 0.235 0.216 0.204 109 276 83 0.279 60 36 10 6 11 0.002 24748 chr19 15871215 15871215 C G rs4807982 CYP4F24P 0 0 0.099 0 0 0 0 29 0 0 1 0 4.15 24749 chr19 15881909 15881909 A G rs4807985 CYP4F24P 0 0 0.126 0 0 0 0 37 0 0 1 0 1.066 24750 chr16 89805301 89805301 G C rs17227403 FANCA Nonsynonymous SNV H1417D 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.272 24751 chr5 179554671 179554671 G T RASGEF1C Nonsynonymous SNV H218N 0 0.005 0 3 0 2 0.008 0 0 0 0 0 7.244 24752 chr19 15881953 15881953 A G rs4807986 CYP4F24P 0 0 0.704 0 0 0 0 207 0 0 73 0 3.928 24753 chr6 36979583 36979583 C T rs12202642 FGD2 Synonymous SNV F160F 0.071 0.078 0.058 19 83 30 0.049 17 2 1 0 0 14.05 24754 chr6 36988364 36988364 C T rs831504 FGD2 Synonymous SNV S390S 0.448 0.479 0.367 194 526 184 0.497 108 144 57 33 52 16.32 24755 chr19 15882884 15882884 C T rs3752144 CYP4F24P 0.15 0.154 0.126 41 176 59 0.105 37 11 5 1 0 16.72 24756 chr17 26861886 26861886 A T FOXN1 Nonsynonymous SNV I433F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.6 24757 chr19 15918802 15918802 C G rs4808383 OR10H1 Nonsynonymous SNV G16R 0.152 0.151 0.129 41 178 58 0.105 38 11 5 2 0 24.5 24758 chr6 37250112 37250112 A G rs195753 TBC1D22B Synonymous SNV Q191Q 0.916 0.922 0.949 366 1075 354 0.938 279 493 164 133 171 3.847 24759 chr6 37252210 37252210 C T rs3818136 TBC1D22B Synonymous SNV N257N 0.699 0.682 0.782 274 821 262 0.703 230 283 93 88 98 15.46 24760 chr19 16006413 16006413 G A rs3093114 CYP4F2 Synonymous SNV A82A 0.219 0.255 0.194 85 257 98 0.218 57 28 16 2 6 5.778 24761 chr6 37349033 37349033 G A rs2284922 RNF8 Synonymous SNV T448T 0.365 0.375 0.388 157 429 144 0.403 114 78 32 22 29 2.623 24762 chr19 16008257 16008257 T C rs3093106 CYP4F2 Synonymous SNV P55P 0.221 0.258 0.204 85 260 99 0.218 60 28 16 3 6 0.007 24763 chr17 21102093 21102093 G C TMEM11 Synonymous SNV A41A 0.002 0 0 0 2 0 0 0 0 0 0 0 4 24764 chr17 27895528 27895528 T C rs497993 TP53I13 0.639 0.609 0 265 750 234 0.679 0 249 74 0 85 4.922 24765 chr17 27421815 27421815 T C MYO18A Synonymous SNV A1521A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.522 24766 chr19 16008388 16008388 A C rs3093105 CYP4F2 Nonsynonymous SNV W12G 0.221 0.258 0.173 85 259 99 0.218 51 28 16 3 6 0.001 24767 chr6 37623566 37623566 C T rs3846874 MDGA1 Synonymous SNV P163P 0.598 0.591 0.524 233 702 227 0.597 154 201 65 38 64 12.61 24768 chr5 180046344 180046344 G C rs448012 FLT4 Nonsynonymous SNV H890Q 0.569 0.589 0.554 222 668 226 0.569 163 191 72 46 64 Benign 25.8 24769 chr6 38650588 38650588 T A rs1130534 GLO1 Synonymous SNV G124G 0.149 0.143 0.133 52 175 55 0.133 39 12 4 2 5 12.32 24770 chr19 16024662 16024662 G C rs1064796 CYP4F11 Synonymous SNV T485T 0.729 0.716 0.667 286 856 275 0.733 196 314 95 65 104 0.069 24771 chr6 38650628 38650628 T G rs4746 GLO1 Nonsynonymous SNV E111A 0.399 0.396 0.425 169 468 152 0.433 125 104 31 25 40 Uncertain significance 16.27 24772 chr19 16025176 16025176 C T rs1060463 CYP4F11 Nonsynonymous SNV D446N 0.532 0.479 0.507 210 624 184 0.538 149 163 45 36 56 11.6 24773 chr17 27437543 27437543 G C rs201762028 MYO18A Nonsynonymous SNV R1000G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 34 24774 chr6 38729511 38729511 T C rs61748600 DNAH8 Nonsynonymous SNV Y300H 0.117 0.115 0.163 67 137 44 0.172 48 6 4 3 4 Benign 24.4 24775 chr19 16034714 16034714 A G rs8104361 CYP4F11 Nonsynonymous SNV C276R 0.76 0.753 0.714 296 892 289 0.759 210 340 105 71 111 0.004 24776 chr16 88968048 88968048 T C rs76033980 CBFA2T3 Synonymous SNV K56K 0.03 0.039 0.058 10 35 15 0.026 17 0 0 1 1 0.116 24777 chr17 28381141 28381141 C G rs4074170 EFCAB5 Synonymous SNV T667T 0.516 0.513 0.52 203 606 197 0.521 153 151 56 45 51 3.085 24778 chr6 38746176 38746176 G A rs61748601 DNAH8 Nonsynonymous SNV A442T 0.055 0.07 0.16 34 64 27 0.087 47 4 4 3 4 Benign 14.12 24779 chr19 16040292 16040292 A G rs3765070 CYP4F11 Synonymous SNV I106I 0.531 0.479 0.507 210 623 184 0.538 149 161 46 37 56 0.013 24780 chr19 16045141 16045141 T C rs2305801 CYP4F11 Synonymous SNV G26G 0.733 0.721 0.704 290 860 277 0.744 207 315 97 70 106 0.004 24781 chr17 2865789 2865789 A C rs34224666 LOC101927911 0.228 0.242 0.088 94 268 93 0.241 26 32 14 7 13 0.113 24782 chr6 38773293 38773293 G A rs874808 DNAH8 Nonsynonymous SNV G807E 0.348 0.359 0.347 174 408 138 0.446 102 68 23 24 33 Benign 9.204 24783 chr19 16136405 16136405 C T rs4808423 LINC00661 0 0 0.731 0 0 0 0 215 0 0 80 0 6.171 24784 chr19 16136528 16136528 - CAGCACCTGGC rs140634016 LINC00661 0 0 0.503 0 0 0 0 148 0 0 35 0 24785 chr17 11166782 11166782 G A rs62000368 SHISA6 Synonymous SNV T246T 0.06 0.042 0.061 17 70 16 0.044 18 1 0 2 0 15.56 24786 chr19 16136923 16136923 T C rs757546 LINC00661 0 0 0.728 0 0 0 0 214 0 0 79 0 0.494 24787 chr5 180582604 180582604 A G rs2546423 OR2V2 Nonsynonymous SNV H221R 0.52 0.482 0.561 198 610 185 0.508 165 158 43 46 49 0.001 24788 chr19 16137025 16137025 C A rs757547 LINC00661 0 0 0.724 0 0 0 0 213 0 0 80 0 6.698 24789 chr6 38781866 38781866 C G rs1678690 DNAH8 Synonymous SNV S881S 0.353 0.37 0.367 175 414 142 0.449 108 73 25 25 35 Benign 13.79 24790 chr19 16137052 16137052 A C rs757548 LINC00661 0 0 0.714 0 0 0 0 210 0 0 80 0 1.365 24791 chr19 16137086 16137086 C T rs2365157 LINC00661 0 0 0.663 0 0 0 0 195 0 0 77 0 6.727 24792 chr6 38825329 38825329 C T rs2061907 DNAH8 Synonymous SNV H1706H 0.352 0.385 0.371 172 413 148 0.441 109 73 28 25 34 Benign 13.13 24793 chr19 1619333 1619333 G A rs1140828 TCF3 Synonymous SNV G436G 0.248 0.208 0.238 89 291 80 0.228 70 41 8 9 10 8.745 24794 chr17 29113016 29113016 A G rs34756112 CRLF3 Synonymous SNV D331D 0.118 0.107 0.109 51 138 41 0.131 32 11 3 1 2 3.539 24795 chr16 89262419 89262419 G A rs35146933 SLC22A31 Synonymous SNV P425P 0.008 0.008 0 0 9 3 0 0 0 1 0 0 4.389 24796 chr19 1619339 1619339 T C rs8140 TCF3 Synonymous SNV S434S 0.331 0.302 0.327 126 389 116 0.323 96 65 18 15 24 0.259 24797 chr6 38841101 38841101 G A rs9380795 DNAH8 Synonymous SNV K2306K 0.356 0.385 0.395 172 418 148 0.441 116 76 28 27 35 Benign 6.984 24798 chr17 29159404 29159404 G C rs999796 ATAD5 Synonymous SNV P13P 0.122 0.099 0.116 54 143 38 0.138 34 11 2 1 2 14.42 24799 chr19 1619348 1619348 G A rs1052696 TCF3 Synonymous SNV G431G 0.074 0.06 0.078 24 87 23 0.062 23 4 0 0 1 2.678 24800 chr6 38843426 38843426 C T rs6458080 DNAH8 Synonymous SNV V2343V 0.335 0.352 0.395 162 393 135 0.415 116 76 28 27 35 Benign 16.55 24801 chr17 29161269 29161269 C G ATAD5 Nonsynonymous SNV P57R 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 23.8 24802 chr19 16238279 16238279 C T rs1043308 RAB8A Synonymous SNV L119L 0.326 0.344 0.333 137 383 132 0.351 98 68 23 13 21 18.62 24803 chr17 27899184 27899184 C T rs200220543 TP53I13 Nonsynonymous SNV R137W 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.4 24804 chr19 16268208 16268208 A - rs398034064 HSH2D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 24805 chr6 38867594 38867594 G A DNAH8 Nonsynonymous SNV V2819M 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 32 24806 chr17 29161358 29161358 C T rs3816780 ATAD5 Nonsynonymous SNV P87S 0.112 0.091 0.105 51 131 35 0.131 31 10 2 1 2 0.868 24807 chr19 16275655 16275655 C T rs6512087 CIB3 Nonsynonymous SNV G90E 0.758 0.773 0.724 308 890 297 0.79 213 336 113 75 118 9.836 24808 chr17 10223793 10223793 C T rs35783712 MYH13 Synonymous SNV Q1044Q 0.033 0.021 0.014 15 39 8 0.038 4 0 0 0 0 10.59 24809 chr17 10236464 10236464 C T rs2190729 MYH13 Nonsynonymous SNV G701R 0.011 0.023 0.014 4 13 9 0.01 4 0 0 0 0 35 24810 chr6 38891068 38891068 T G rs4714199 DNAH8-AS1 0.071 0.076 0.071 36 83 29 0.092 21 8 3 2 1 2.484 24811 chr19 16339715 16339715 C T rs3752797 AP1M1 Synonymous SNV I341I 0.694 0.703 0.673 282 815 270 0.723 198 289 92 67 97 20.5 24812 chr17 29161845 29161845 G A rs17826219 ATAD5 Nonsynonymous SNV R249K 0.11 0.089 0.102 51 129 34 0.131 30 9 2 1 2 0.002 24813 chr6 38903421 38903421 G A rs61748646 DNAH8 Synonymous SNV R3620R 0.026 0.034 0.014 12 31 13 0.031 4 0 0 0 0 Benign 10.21 24814 chr19 16436262 16436262 T C rs3745318 KLF2 Nonsynonymous SNV L104P 0.836 0.766 0.772 325 981 294 0.833 227 426 117 97 136 11.79 24815 chr6 38957853 38957853 A G rs3737094 DNAH8 Synonymous SNV L4156L 0.431 0.448 0.449 168 506 172 0.431 132 96 37 35 35 Benign 0.775 24816 chr5 180687212 180687212 C T rs918388 TRIM52 Synonymous SNV L201L 0.185 0.216 0.221 81 217 83 0.208 65 23 11 7 6 13.34 24817 chr17 29161956 29161961 CAATGT - rs60663953 ATAD5 M287_S288del 0.111 0.089 0.102 52 130 34 0.133 30 9 2 1 2 24818 chr19 16591464 16591464 G A rs9305079 CALR3 Synonymous SNV Y324Y 0.737 0.766 0.786 293 865 294 0.751 231 317 114 89 108 Benign 0.655 24819 chr6 39016636 39016636 C T rs10305420 GLP1R Nonsynonymous SNV P7L 0.354 0.385 0.241 140 416 148 0.359 71 69 31 21 19 17.23 24820 chr5 180687429 180687431 TCT - rs200454506 TRIM52 E130del 0.278 0.302 0.323 107 326 116 0.274 95 43 20 18 15 24821 chr17 29162173 29162173 T C rs11655623 ATAD5 Synonymous SNV P358P 0.112 0.091 0.105 52 131 35 0.133 31 10 2 1 2 0.002 24822 chr19 16601194 16601194 C T rs3810198 CALR3 Synonymous SNV Q127Q 0.737 0.766 0.782 293 865 294 0.751 230 317 114 88 108 Benign 2.089 24823 chr16 89293502 89293502 C T rs762395617 ZNF778 Nonsynonymous SNV A241V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.206 24824 chr19 16633950 16633950 T C rs1043481 CHERP Synonymous SNV P631P 0.885 0.891 0.881 335 1039 342 0.859 259 458 152 113 143 5.828 24825 chr17 18024266 18024266 T G rs2955367 MYO15A Nonsynonymous SNV W718G 0.295 0.331 0.296 143 346 127 0.367 87 83 40 19 40 Benign 11.38 24826 chr17 29214387 29214387 T C rs11657270 ATAD5 Nonsynonymous SNV Y1419H 0.111 0.091 0.102 51 130 35 0.131 30 9 2 1 2 2.4 24827 chr6 39033602 39033602 A G rs6918287 GLP1R Synonymous SNV E133E 0.982 0.977 0.966 381 1153 375 0.977 284 566 183 137 186 5.303 24828 chr6 564145 564145 A G rs2277095 EXOC2 Synonymous SNV H559H 0.014 0.016 0.01 5 16 6 0.013 3 0 0 0 0 3.574 24829 chr19 16666101 16666101 G C rs2287869 SLC35E1 Synonymous SNV P288P 0.621 0.62 0.66 246 729 238 0.631 194 223 74 65 74 7.96 24830 chr6 39159407 39159407 G A rs13208158 KCNK5 Synonymous SNV H253H 0.02 0.018 0.024 15 23 7 0.038 7 1 0 0 0 0.078 24831 chr19 16842052 16842052 G T rs8107776 NWD1 Nonsynonymous SNV C15F 0.622 0.638 0.656 217 730 245 0.556 193 227 80 64 63 9.621 24832 chr17 29219708 29219708 C T rs140139079 ATAD5 Nonsynonymous SNV R1448C 0.005 0.013 0.003 6 6 5 0.015 1 0 0 0 0 12.16 24833 chr17 28576076 28576076 T C rs1050565 BLMH Nonsynonymous SNV I443V 0.285 0.268 0.211 114 335 103 0.292 62 37 14 4 20 Benign 0.028 24834 chr6 39282036 39282036 T C rs10947804 KCNK17 Nonsynonymous SNV S21G 0.497 0.508 0.602 187 584 195 0.479 177 181 63 52 50 1.232 24835 chr19 16855265 16855265 A G rs812847 NWD1 Nonsynonymous SNV I78V 0.614 0.594 0.609 243 721 228 0.623 179 237 68 59 76 0.001 24836 chr17 28612448 28612448 G C rs7342921 BLMH Synonymous SNV T201T 0.285 0.268 0.211 114 335 103 0.292 62 37 14 4 20 11.15 24837 chr17 29226228 29226228 T C rs2433 TEFM Nonsynonymous SNV I348V 0.11 0.089 0.102 51 129 34 0.131 30 9 2 1 2 0.003 24838 chr6 39282806 39282806 G T rs11756091 KCNK16 Nonsynonymous SNV P254H 0.546 0.555 0.605 197 641 213 0.505 178 182 63 50 51 1.414 24839 chr17 28651840 28651840 C T rs149364379 TMIGD1 Nonsynonymous SNV V212I 0.012 0.005 0.014 9 14 2 0.023 4 0 0 0 0 22.4 24840 chr19 16860105 16860105 G A rs706764 NWD1 Nonsynonymous SNV A12T 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 0.004 24841 chr6 39283083 39283083 G A rs11753141 KCNK16 Synonymous SNV N262N 0.543 0.555 0.605 198 638 213 0.508 178 180 63 50 51 5.385 24842 chr19 16899838 16899838 A T rs2608737 NWD1 Nonsynonymous SNV N720I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.305 24843 chr6 39284050 39284050 G T rs1535500 KCNK16 Nonsynonymous SNV A277E 0.531 0.549 0.585 194 623 211 0.497 172 177 63 50 50 1.763 24844 chr6 1395043 1395043 T C rs2293783 FOXF2 Synonymous SNV Y428Y 0.269 0.227 0.262 97 316 87 0.249 77 41 10 13 13 1.604 24845 chr19 16926067 16926067 A T rs11671361 NWD1 Nonsynonymous SNV D1335V 0.185 0.174 0.211 80 217 67 0.205 62 22 5 8 10 9.073 24846 chr6 2749381 2749381 C T rs2296356 MYLK4 Nonsynonymous SNV G50R 0.117 0.102 0.095 32 137 39 0.082 28 13 3 3 1 21.9 24847 chr6 39284184 39284184 A G rs3734618 KCNK16 Synonymous SNV Y232Y 0.547 0.56 0.595 201 642 215 0.515 175 181 63 52 53 22.5 24848 chr19 16976286 16976286 A G rs773911 SIN3B Synonymous SNV L73L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.118 24849 chr6 39290200 39290200 C T rs3734619 KCNK16 Synonymous SNV A39A 0.431 0.448 0.435 156 506 172 0.4 128 110 43 30 34 11.07 24850 chr19 17000632 17000632 G A rs773902 F2RL3 Nonsynonymous SNV A120T 0.244 0.214 0.248 82 286 82 0.21 73 35 5 6 5 2.682 24851 chr6 39507889 39507889 C T rs2273063 KIF6 Nonsynonymous SNV R512H 0.027 0.044 0.037 15 32 17 0.038 11 0 0 0 1 10.89 24852 chr17 29857346 29857346 G C rs200996769 RAB11FIP4 Nonsynonymous SNV E292D 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 18.37 24853 chr17 10415303 10415303 C T rs150185814 MYH1 Synonymous SNV V423V 0.023 0.026 0.017 7 27 10 0.018 5 0 0 0 0 3.031 24854 chr17 29161202 29161202 A T rs9910051 ATAD5 Nonsynonymous SNV T35S 0.106 0.094 0.112 53 125 36 0.136 33 11 2 1 2 2.005 24855 chr19 17008578 17008578 G C rs2608732 CPAMD8 Synonymous SNV T1663T 0.569 0.531 0.551 215 668 204 0.551 162 187 59 43 59 7.042 24856 chr6 39563863 39563863 C T rs7738892 KIF6 Synonymous SNV K271K 0.168 0.234 0.184 64 197 90 0.164 54 10 15 6 3 15.17 24857 chr19 17017878 17017878 G A rs56408444 CPAMD8 Nonsynonymous SNV A1304V 0.207 0.188 0.214 79 243 72 0.203 63 22 10 8 6 4.366 24858 chr6 39851818 39851818 G A rs3003929 DAAM2 Synonymous SNV K642K 0.569 0.539 0.619 220 668 207 0.564 182 195 52 56 66 11.41 24859 chr6 39864730 39864730 C T rs3008815 DAAM2 Synonymous SNV I828I 0.528 0.474 0.612 195 620 182 0.5 180 171 39 58 51 16.78 24860 chr19 17025292 17025292 G A rs706761 CPAMD8 Nonsynonymous SNV T1268I 0.483 0.484 0.463 210 567 186 0.538 136 145 41 32 55 22.7 24861 chr6 39865047 39865047 T C rs3004067 DAAM2 Synonymous SNV A869A 0.647 0.609 0.701 246 760 234 0.631 206 251 66 74 79 10.81 24862 chr17 30625205 30625205 G A rs4795690 RHBDL3 Nonsynonymous SNV V194M 0.2 0.174 0.19 66 235 67 0.169 56 22 4 8 5 22.6 24863 chr19 17088299 17088299 T C rs1824152 CPAMD8 Nonsynonymous SNV H546R 0.302 0.313 0.391 135 354 120 0.346 115 48 21 24 26 0.001 24864 chr6 40360465 40360465 A G rs3734557 LRFN2 Synonymous SNV I529I 0.67 0.682 0.663 259 787 262 0.664 195 259 89 61 85 0.24 24865 chr17 30692396 30692396 G T rs3795244 ZNF207 Nonsynonymous SNV A224S 0.076 0.065 0.095 35 89 25 0.09 28 3 0 0 1 24.3 24866 chr6 40998167 40998167 T C rs742493 UNC5CL Nonsynonymous SNV R432G 0.107 0.091 0.099 49 126 35 0.126 29 9 3 2 1 21 24867 chr19 17091368 17091368 T G rs8103646 CPAMD8 Synonymous SNV R508R 0.26 0.268 0.34 125 305 103 0.321 100 36 17 17 21 7.013 24868 chr19 17100552 17100552 A G rs1973093 CPAMD8 Synonymous SNV P432P 0.502 0.466 0.565 209 589 179 0.536 166 144 38 48 55 0.004 24869 chr17 3100827 3100827 T C rs2241093 OR1A2 Synonymous SNV N5N 0.342 0.339 0.344 149 401 130 0.382 101 70 26 16 27 0.01 24870 chr6 41162518 41162518 T C rs3747742 TREML2 Nonsynonymous SNV S144G 0.28 0.323 0.361 142 329 124 0.364 106 42 15 14 18 0.012 24871 chr17 25909816 25909816 C T rs2293180 KSR1 Nonsynonymous SNV A222V 0.143 0.135 0.129 62 168 52 0.159 38 11 3 3 3 3.649 24872 chr19 17108053 17108053 C T rs3745339 CPAMD8 Nonsynonymous SNV M321I 0.096 0.096 0.136 44 113 37 0.113 40 9 1 5 1 0.088 24873 chr6 41250179 41250179 C T rs2234239 TREM1 Synonymous SNV K120K 0.076 0.089 0.078 40 89 34 0.103 23 1 7 2 0 9.842 24874 chr17 3101578 3101578 G T rs2241091 OR1A2 Nonsynonymous SNV G256C 0.341 0.339 0.344 148 400 130 0.379 101 70 26 16 27 25.5 24875 chr19 17111297 17111297 A G rs4808551 CPAMD8 Nonsynonymous SNV M265T 0.796 0.815 0.793 312 935 313 0.8 233 374 132 94 129 0.001 24876 chr6 41309552 41309552 T C rs2236369 NCR2 Nonsynonymous SNV S139P 0.55 0.505 0.452 217 646 194 0.556 133 179 51 42 59 0.081 24877 chr19 17113147 17113147 A G rs3745345 CPAMD8 Synonymous SNV F229F 0.098 0.094 0.129 43 115 36 0.11 38 9 1 4 3 2.474 24878 chr17 3101691 3101691 G T rs12150427 OR1A2 Nonsynonymous SNV W293C 0.341 0.339 0.344 148 400 130 0.379 101 70 26 16 27 12.11 24879 chr6 41318438 41318438 A G rs2273962 NCR2 Nonsynonymous SNV M223V 0.79 0.802 0.81 295 928 308 0.756 238 366 123 95 110 0.005 24880 chr17 29857460 29857460 G A rs61731602 RAB11FIP4 Synonymous SNV A330A 0.217 0.279 0.224 87 255 107 0.223 66 30 14 10 8 13.37 24881 chr19 17273893 17273893 G T rs7256689 MYO9B Synonymous SNV L544L 0.598 0.654 0.551 250 702 251 0.641 162 211 83 45 76 3.06 24882 chr19 17303774 17303774 T G rs1545620 MYO9B Nonsynonymous SNV S1011A 0.382 0.422 0.442 154 448 162 0.395 130 81 30 26 32 0.001 24883 chr6 41533579 41533579 C A rs2104506 FOXP4 Synonymous SNV A27A 0.251 0.24 0.231 69 295 92 0.177 68 36 5 6 7 15.26 24884 chr6 41621271 41621271 G A rs2230088 MDFI Synonymous SNV L172L 0.244 0.242 0.245 80 287 93 0.205 72 31 5 9 6 10.44 24885 chr19 17305440 17305440 T C rs1064305 MYO9B Synonymous SNV G1068G 0.372 0.419 0.442 153 437 161 0.392 130 80 30 26 32 0.039 24886 chr17 30222002 30222002 T C rs3760454 UTP6 Nonsynonymous SNV Q69R 0.341 0.359 0.33 151 400 138 0.387 97 75 26 20 30 17.52 24887 chr19 17306031 17306031 T C rs2279003 MYO9B Synonymous SNV P1265P 0.525 0.583 0.605 198 616 224 0.508 178 161 60 56 49 0.055 24888 chr6 41652604 41652604 T C rs1062966 TFEB Synonymous SNV P303P 0.686 0.724 0.745 284 805 278 0.728 219 287 104 84 101 0.11 24889 chr6 4069562 4069562 T C FAM217A Nonsynonymous SNV M299V 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 7.975 24890 chr17 11511480 11511480 G A rs17599639 DNAH9 Nonsynonymous SNV R151H 0.031 0.023 0.017 9 36 9 0.023 5 1 0 0 0 0.18 24891 chr17 31618551 31618551 G A rs9890913 ASIC2 Synonymous SNV L195L 0.101 0.078 0.085 35 119 30 0.09 25 5 1 2 0 6.365 24892 chr19 17312992 17312992 C T rs2305765 MYO9B Synonymous SNV V1572V 0.349 0.385 0.401 149 410 148 0.382 118 71 21 22 28 18.89 24893 chr6 41658566 41658566 C T rs2273068 TFEB Synonymous SNV G115G 0.175 0.18 0.204 72 205 69 0.185 60 19 8 5 5 13.16 24894 chr19 17316782 17316782 T C rs7248508 MYO9B Nonsynonymous SNV V1693A 0.35 0.38 0.408 152 411 146 0.39 120 74 21 23 31 0.191 24895 chr6 41658889 41658889 C T rs1015149 TFEB Synonymous SNV Q35Q 0.488 0.536 0.534 211 573 206 0.541 157 145 52 41 53 10.4 24896 chr17 3181384 3181384 C T rs769434 OR3A2 Synonymous SNV G282G 0.13 0.091 0.139 55 153 35 0.141 41 12 1 4 5 10.8 24897 chr6 41753084 41753084 C T rs9394831 PRICKLE4 Synonymous SNV L130L 0.204 0.26 0.17 72 240 100 0.185 50 22 16 6 7 5.589 24898 chr19 17317955 17317955 A G rs8110964 MYO9B Synonymous SNV S1842S 0.352 0.388 0.408 152 413 149 0.39 120 73 21 23 31 8.427 24899 chr19 17330060 17330060 T C rs414528 USE1 Nonsynonymous SNV L154S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.52 24900 chr17 3195503 3195503 C T rs703903 OR3A1 Nonsynonymous SNV R125Q 0.493 0.458 0.415 192 579 176 0.492 122 143 37 24 45 26.1 24901 chr6 41754576 41754576 C T rs9381093 PRICKLE4 Synonymous SNV L288L 0.2 0.26 0.187 72 235 100 0.185 55 21 16 6 7 15.34 24902 chr17 10206595 10206595 T C rs3744550 MYH13 Nonsynonymous SNV H1862R 0.07 0.065 0.099 38 82 25 0.097 29 6 0 2 1 5.532 24903 chr19 17337555 17337555 C A rs3745163 OCEL1 Synonymous SNV T41T 0.156 0.156 0.126 51 183 60 0.131 37 12 7 1 2 16.91 24904 chr17 1538669 1538669 C T rs36108564 SCARF1 Nonsynonymous SNV G626S 0.115 0.109 0.126 54 135 42 0.138 37 9 2 2 3 10.91 24905 chr6 41773735 41773735 G A rs6926173 USP49 Synonymous SNV G329G 0.218 0.237 0.235 101 256 91 0.259 69 23 10 5 11 6.417 24906 chr19 17337928 17337928 C T rs1045201 OCEL1 Synonymous SNV A124A 0.122 0.128 0.16 48 143 49 0.123 47 11 3 4 4 14.51 24907 chr6 41895150 41895150 G A rs2296916 BYSL Nonsynonymous SNV E103K 0.136 0.135 0.116 72 160 52 0.185 34 7 4 2 5 23.9 24908 chr6 4998963 4998963 A G rs1749144 RPP40 Synonymous SNV A159A 0.3 0.302 0.041 109 352 116 0.279 12 57 18 5 19 9.599 24909 chr19 17361127 17361127 G A rs180814388 USHBP1 Synonymous SNV A609A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.639 24910 chr19 17366278 17366278 T C rs4430871 USHBP1 Synonymous SNV A472A 0.585 0.669 0.626 241 687 257 0.618 184 201 85 57 79 0.076 24911 chr17 32583269 32583269 T C rs4586 CCL2 Synonymous SNV C35C 0.392 0.365 0.388 170 460 140 0.436 114 84 23 23 40 0.008 24912 chr6 41900406 41900406 C T rs3828855 BYSL Nonsynonymous SNV P426S 0.144 0.135 0.119 74 169 52 0.19 35 8 4 2 5 5.324 24913 chr19 17366313 17366313 C T rs12459398 USHBP1 Nonsynonymous SNV V461M 0.158 0.216 0.17 63 186 83 0.162 50 15 10 4 6 2.265 24914 chr17 3119049 3119049 C T rs4374201 OR1A1 Synonymous SNV I45I 0.106 0.073 0.082 45 124 28 0.115 24 6 1 2 5 13.05 24915 chr17 32612894 32612894 G A rs1129844 CCL11 Nonsynonymous SNV A23T 0.225 0.185 0.218 78 264 71 0.2 64 27 6 7 10 3.782 24916 chr17 26817537 26817537 G A rs11568466 SLC13A2 Synonymous SNV A148A 0.234 0.206 0.238 94 275 79 0.241 70 29 5 13 14 11.64 24917 chr17 3119297 3119297 G A rs4375699 OR1A1 Nonsynonymous SNV R128H 0.106 0.073 0.082 45 124 28 0.115 24 6 1 2 5 2.343 24918 chr19 17367435 17367435 T C rs9676419 USHBP1 Nonsynonymous SNV M375V 0.175 0.227 0.17 65 205 87 0.167 50 18 11 5 6 0.002 24919 chr6 41903782 41903782 A C rs1051130 CCND3 Nonsynonymous SNV S187A 0.467 0.531 0.469 191 548 204 0.49 138 128 55 32 46 0.009 24920 chr19 17370190 17370190 T G rs11880383 USHBP1 Synonymous SNV L254L 0.101 0.128 0.126 37 119 49 0.095 37 7 4 6 2 10.13 24921 chr17 3119397 3119397 G T rs769425 OR1A1 Synonymous SNV L161L 0.089 0.081 0.136 39 104 31 0.1 40 4 0 4 3 2.326 24922 chr19 17547292 17547292 A G rs4808641 TMEM221 Nonsynonymous SNV M284T 0.971 0.964 0.891 378 1140 370 0.969 262 555 179 119 183 0.02 24923 chr6 42044945 42044945 G A rs3800286 TAF8 Synonymous SNV R296R 0.738 0.716 0.752 268 866 275 0.687 221 311 94 87 90 12.44 24924 chr17 32906008 32906008 C G rs58529418 C17orf102 0.113 0.104 0.119 51 133 40 0.131 35 7 4 2 4 18.93 24925 chr17 3119611 3119611 G A rs17762735 OR1A1 Nonsynonymous SNV V233M 0.089 0.081 0.133 38 104 31 0.097 39 4 0 4 3 8.836 24926 chr19 17556054 17556054 A G rs3810209 TMEM221 Synonymous SNV H120H 0.932 0.932 0.864 361 1094 358 0.926 254 512 169 111 167 0.045 24927 chr17 1183347 1183347 G A rs111701043 TRARG1 Nonsynonymous SNV A18T 0.021 0.029 0.014 9 25 11 0.023 4 0 0 0 0 0.017 24928 chr19 17559076 17559076 T C rs4808643 TMEM221 Nonsynonymous SNV T66A 0.924 0.909 0.796 353 1085 349 0.905 234 507 166 105 164 3.697 24929 chr6 42072710 42072715 CTCCTC - rs150599390 C6orf132 E979_E980del 0.126 0.128 0.122 53 148 49 0.136 36 19 2 2 5 24930 chr17 3300934 3300934 A T rs769422 OR1E1 Synonymous SNV G257G 0.123 0.12 0.085 50 144 46 0.128 25 6 3 0 4 0.002 24931 chr6 6222382 6222382 T G rs5981 F13A1 Synonymous SNV P332P 0.192 0.188 0.112 63 225 72 0.162 33 30 6 4 2 Benign 12.22 24932 chr17 31322427 31322427 G A rs34727343 SPACA3 Nonsynonymous SNV R12K 0.017 0.021 0.007 9 20 8 0.023 2 0 0 0 0 10.94 24933 chr17 27613677 27613677 G A rs12452857 NUFIP2 Synonymous SNV P445P 0.287 0.234 0.228 93 337 90 0.238 67 42 15 8 8 0.856 24934 chr6 42072989 42072989 G A rs9394863 C6orf132 Synonymous SNV G887G 0.042 0.073 0.065 17 49 28 0.044 19 1 1 1 0 3.849 24935 chr17 1585130 1585130 A G rs11559305 PRPF8 Synonymous SNV L213L 0.169 0.156 0.18 74 198 60 0.19 53 18 1 2 6 Benign 2.048 24936 chr17 3301549 3301549 G A rs150988 OR1E1 Synonymous SNV D52D 0.368 0.352 0.361 137 432 135 0.351 106 85 28 20 25 2.255 24937 chr19 17622614 17622614 C T rs11086075 PGLS Synonymous SNV L45L 0.463 0.503 0.344 165 544 193 0.423 101 132 51 27 27 20.1 24938 chr6 7211818 7211818 G A rs1334576 RREB1 Nonsynonymous SNV G195R 0.267 0.279 0.286 117 313 107 0.3 84 49 13 14 21 12.63 24939 chr6 42073241 42073241 C T rs28666916 C6orf132 Synonymous SNV V803V 0.314 0.313 0.293 121 369 120 0.31 86 58 15 6 17 5.512 24940 chr17 3181555 3181555 A G rs2013809 OR3A2 Synonymous SNV T225T 0.137 0.172 0.18 53 161 66 0.136 53 11 4 10 6 0.009 24941 chr19 17628587 17628587 A G rs6743 PGLS Synonymous SNV T189T 0.537 0.581 0.544 211 631 223 0.541 160 178 66 48 47 0.004 24942 chr17 3324810 3324810 A G rs227787 OR3A3 Nonsynonymous SNV K317E 0.259 0.224 0.231 106 304 86 0.272 68 41 12 7 12 15.12 24943 chr6 42073958 42073958 C T rs9394865 C6orf132 Synonymous SNV R564R 0.042 0.073 0.065 17 49 28 0.044 19 1 1 1 0 10.74 24944 chr19 17648350 17648350 T C rs8107859 NIBAN3, NIBAN3 Nonsynonymous SNV I198T 0.984 0.974 0.986 378 1155 374 0.969 290 568 182 143 183 9.241 24945 chr17 3181662 3181662 G C rs9901356 OR3A2 Nonsynonymous SNV L190V 0.137 0.169 0.18 53 161 65 0.136 53 11 4 10 6 17.7 24946 chr17 27889643 27889643 C T rs62070804 ABHD15 Nonsynonymous SNV R448Q 0.043 0.042 0.037 20 50 16 0.051 11 0 0 0 0 24.4 24947 chr6 42074106 42074106 A G rs9394866 C6orf132 Nonsynonymous SNV L515P 0.551 0.589 0.544 211 647 226 0.541 160 196 69 42 50 0.002 24948 chr17 33269648 33269648 C G rs2230553 CCT6B Nonsynonymous SNV G210A 0.319 0.253 0.143 144 375 97 0.369 42 69 16 9 24 23.3 24949 chr19 17650053 17650053 G A rs74546231 NIBAN3 Synonymous SNV V230V 0.041 0.047 0.034 14 48 18 0.036 10 1 0 0 0 8.363 24950 chr6 7230675 7230675 C T rs45519731 RREB1 Synonymous SNV G781G 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 12.42 24951 chr19 17651370 17651370 A G rs11878663 NIBAN3 Synonymous SNV S140S 0.934 0.914 0.935 363 1097 351 0.931 275 519 160 129 168 1.461 24952 chr6 42074288 42074288 C G rs9471762 C6orf132 Synonymous SNV A454A 0.3 0.315 0.238 115 352 121 0.295 70 57 17 6 17 9.014 24953 chr19 17670132 17670132 C T rs118174667 COLGALT1 Synonymous SNV D91D 0.009 0.018 0.041 5 11 7 0.013 12 0 0 0 0 Uncertain significance 13.68 24954 chr17 33286664 33286664 A G rs2230552 CCT6B Nonsynonymous SNV V48A 0.232 0.237 0.15 93 272 91 0.238 44 28 10 3 14 26.5 24955 chr6 42075105 42075131 GGTGGGGGTTCCAGCAGCAGGGGAGGT - rs748748025 C6orf132 L176_P184del 0.032 0.016 0.048 17 38 6 0.044 14 10 2 2 5 24956 chr19 17670201 17670201 C T rs62119894 COLGALT1 Synonymous SNV S114S 0.049 0.078 0.078 22 57 30 0.056 23 2 0 1 0 16.25 24957 chr6 42110171 42110171 C G rs9688934 C6orf132 Nonsynonymous SNV K4N 0.136 0.146 0.037 45 160 56 0.115 11 4 3 2 3 18.22 24958 chr19 17746947 17746947 A G rs4239634 UNC13A Nonsynonymous SNV L1034P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.63 24959 chr6 42123317 42123317 A C rs1132156 LOC114841037 Nonsynonymous SNV M14L 0.614 0.63 0.667 254 721 242 0.651 196 217 75 67 84 Benign 0.002 24960 chr19 17759289 17759289 G C rs73922174 UNC13A Synonymous SNV V589V 0.095 0.091 0.088 42 111 35 0.108 26 7 2 0 2 10.05 24961 chr17 2202943 2202943 T C rs216196 SMG6 Synonymous SNV S368S 0.205 0.19 0.221 72 241 73 0.185 65 25 7 5 7 0.002 24962 chr6 7247344 7247344 C A rs35742417 RREB1 Nonsynonymous SNV S1499Y 0.057 0.073 0.092 23 67 28 0.059 27 2 0 2 1 23.7 24963 chr19 17766900 17766900 C T rs34752754 UNC13A Nonsynonymous SNV A359T 0.485 0.503 0.452 196 569 193 0.503 133 134 42 39 43 8.476 24964 chr6 42162388 42162388 A G rs3749921 GUCA1B Synonymous SNV Y57Y 0.572 0.555 0.503 231 671 213 0.592 148 181 57 38 70 Benign 0.064 24965 chr6 7310259 7310259 A G rs10004 SSR1 Nonsynonymous SNV L28S 0.212 0.206 0.19 104 249 79 0.267 56 23 6 7 14 7.383 24966 chr6 42232475 42232475 G A rs2295274 TRERF1 Synonymous SNV H534H 0.176 0.151 0.146 72 207 58 0.185 43 18 6 4 6 10.66 24967 chr19 17777508 17777508 C G rs9305092 UNC13A Synonymous SNV S158S 0.875 0.909 0.861 333 1027 349 0.854 253 449 158 111 141 16.36 24968 chr17 28296122 28296122 G C rs112588760 EFCAB5 Synonymous SNV L112L 0.007 0.018 0 1 8 7 0.003 0 0 0 0 0 1.571 24969 chr19 1783261 1783261 C T rs2385387 ATP8B3 Synonymous SNV K1186K 0.477 0.456 0.486 192 560 175 0.492 143 127 43 34 52 9.979 24970 chr17 2203167 2203167 T G rs216195 SMG6 Nonsynonymous SNV K294Q 0.247 0.224 0.235 90 290 86 0.231 69 30 10 7 10 19.89 24971 chr6 42532102 42532102 C T rs3749897 UBR2 Synonymous SNV S15S 0.396 0.391 0.381 154 465 150 0.395 112 81 24 21 33 16.36 24972 chr19 17837090 17837090 C T rs12975100 MAP1S Synonymous SNV P273P 0.295 0.326 0.347 109 346 125 0.279 102 58 26 15 18 12.13 24973 chr6 7379031 7379031 G A rs10223538 CAGE1 Nonsynonymous SNV T33I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.5 24974 chr6 42600319 42600319 A G rs5014584 UBR2 Synonymous SNV L437L 0.889 0.862 0.871 357 1044 331 0.915 256 464 143 111 164 6.891 24975 chr19 17837417 17837417 G A rs138676223 MAP1S Synonymous SNV T382T 0.014 0.018 0.017 8 16 7 0.021 5 0 0 0 0 5.804 24976 chr17 33433487 33433487 C T rs4796033 RAD51D Nonsynonymous SNV R53Q 0.14 0.143 0.133 34 164 55 0.087 39 15 3 2 1 Benign 16.92 24977 chr6 42627434 42627434 G A rs6917033 UBR2 Nonsynonymous SNV A1095T 0.394 0.383 0.391 153 462 147 0.392 115 82 25 21 32 10.66 24978 chr19 17837512 17837512 G A rs12983721 MAP1S Nonsynonymous SNV C414Y 0.294 0.323 0.347 109 345 124 0.279 102 57 25 15 18 15.56 24979 chr19 17837981 17837981 A G rs7253548 MAP1S Synonymous SNV A570A 0.162 0.198 0.167 73 190 76 0.187 49 15 14 4 7 1.068 24980 chr17 28407957 28407957 C T rs143114099 EFCAB5 Synonymous SNV H1128H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.39 24981 chr6 42627466 42627466 C T rs115798367 UBR2 Synonymous SNV F1105F 0.012 0.013 0.003 9 14 5 0.023 1 0 0 0 1 Benign 17.03 24982 chr17 28505174 28505174 A C rs11544945 NSRP1 Nonsynonymous SNV K32T 0.036 0.049 0.024 12 42 19 0.031 7 2 1 1 0 23.4 24983 chr19 1784890 1784890 A G rs3764605 ATP8B3 Synonymous SNV S1159S 0.565 0.563 0.582 229 663 216 0.587 171 185 64 50 70 0.005 24984 chr6 42666061 42666061 T C rs434102 PRPH2 Nonsynonymous SNV D338G 0.781 0.755 0.782 308 917 290 0.79 230 359 110 91 120 Benign 9.896 24985 chr19 1784944 1784944 A G rs3764606 ATP8B3 Synonymous SNV Y1141Y 0.56 0.563 0.578 228 658 216 0.585 170 183 65 50 69 0.003 24986 chr6 42666145 42666145 C T rs425876 PRPH2 Nonsynonymous SNV R310K 0.876 0.859 0.864 352 1029 330 0.903 254 450 141 110 159 Benign 14.6 24987 chr6 7577260 7577260 C T rs2064217 DSP Synonymous SNV C954C 0.244 0.211 0.241 79 287 81 0.203 71 33 9 14 8 Benign 15.61 24988 chr19 17885270 17885270 A G rs2287859 FCHO1 Synonymous SNV P251P 0.491 0.466 0.408 200 577 179 0.513 120 144 46 32 55 0.615 24989 chr19 17886940 17886940 G A rs2287854 FCHO1 Synonymous SNV A334A 0.489 0.466 0.412 200 574 179 0.513 121 142 45 31 55 6.306 24990 chr6 7581636 7581636 G A rs6929069 DSP Nonsynonymous SNV R1738Q 0.155 0.135 0.167 60 182 52 0.154 49 12 3 7 4 Benign 7.501 24991 chr6 42666164 42666164 G C rs390659 PRPH2 Nonsynonymous SNV Q304E 0.78 0.755 0.786 308 916 290 0.79 231 358 110 91 120 Benign 6.51 24992 chr19 17892591 17892591 A G rs2042298 FCHO1 Synonymous SNV T583T 0.956 0.964 0.946 364 1122 370 0.933 278 537 178 131 170 0.024 24993 chr19 1789556 1789556 C T rs12978609 ATP8B3 Synonymous SNV Q846Q 0.152 0.167 0.153 69 178 64 0.177 45 19 8 2 4 5.238 24994 chr6 42689755 42689755 A G rs7764439 PRPH2 Synonymous SNV V106V 0.59 0.583 0.595 247 693 224 0.633 175 195 63 49 75 Benign 0.002 24995 chr17 2280363 2280363 G T SGSM2 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 24996 chr19 17922795 17922795 G A rs36686 B3GNT3 Nonsynonymous SNV R328H 0.75 0.805 0.772 289 880 309 0.741 227 325 124 89 108 13.13 24997 chr17 29161503 29161503 A G rs11080134 ATAD5 Nonsynonymous SNV E135G 0.309 0.333 0.32 113 363 128 0.29 94 63 18 12 16 10.51 24998 chr6 42713498 42713498 A G TBCC Nonsynonymous SNV L105P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 24999 chr6 42713618 42713618 A G rs2234026 TBCC Nonsynonymous SNV V65A 0.98 0.966 0.959 379 1151 371 0.972 282 564 180 135 184 1.165 25000 chr19 18047283 18047283 T G rs4808722 CCDC124 Synonymous SNV R18R 0.335 0.336 0.388 141 393 129 0.362 114 71 20 20 25 9.827 25001 chr19 1811547 1811547 A G rs12609187 ATP8B3 Synonymous SNV P10P 0.839 0.865 0.844 339 985 332 0.869 248 414 144 105 148 0.057 25002 chr6 7601720 7601720 C T rs3734586 SNRNP48 Synonymous SNV S186S 0.182 0.18 0.207 67 214 69 0.172 61 21 7 7 8 15.93 25003 chr6 42713770 42713770 T G rs2234025 TBCC Synonymous SNV G14G 0.044 0.029 0.051 16 52 11 0.041 15 3 0 0 1 0.002 25004 chr17 25932524 25932524 C T rs200404555 KSR1 Nonsynonymous SNV P560L 0.014 0.008 0 6 16 3 0.015 0 0 0 0 0 26.7 25005 chr17 33690619 33690619 G T rs72825958 SLFN11 Nonsynonymous SNV P70T 0.187 0.216 0.211 71 219 83 0.182 62 18 11 10 10 0.003 25006 chr19 1811603 1811603 C T rs7250872 ATP8B3 Nonsynonymous SNV G45R 0.264 0.247 0.262 101 310 95 0.259 77 36 10 7 9 16.24 25007 chr6 8015821 8015821 T C rs3734591 EEF1E1-BLOC1S5 0.078 0.091 0.031 40 92 35 0.103 9 4 0 2 1 2.416 25008 chr6 42932200 42932200 G T rs1129187 PEX6 Nonsynonymous SNV P939Q 0.423 0.461 0.435 175 497 177 0.449 128 103 42 29 39 Benign 14.4 25009 chr6 10556872 10556872 C T rs2230906 GCNT2 Synonymous SNV C72C 0.096 0.089 0.105 34 113 34 0.087 31 9 0 3 2 Benign/Likely benign 16.49 25010 chr19 18123738 18123738 T C rs7259041 ARRDC2 Nonsynonymous SNV L391P 0.226 0.203 0.231 82 265 78 0.21 68 39 6 4 8 1.45 25011 chr17 33771996 33771996 G A rs72483216 SLFN13 Nonsynonymous SNV S235F 0.033 0.029 0.014 7 39 11 0.018 4 0 0 0 0 23.4 25012 chr6 42932202 42932202 C T rs1129186 PEX6 Synonymous SNV E938E 0.506 0.51 0.517 210 594 196 0.538 152 151 49 38 56 Benign 16.08 25013 chr19 18180413 18180413 C G rs401502 IL12RB1 Nonsynonymous SNV G378R 0.361 0.349 0.33 132 424 134 0.338 97 71 26 18 20 Benign 1.882 25014 chr6 42933464 42933464 G A rs35830695 PEX6 Nonsynonymous SNV A809V 0.068 0.026 0.071 23 80 10 0.059 21 0 0 0 1 Benign/Likely benign 34 25015 chr19 18180451 18180451 A G rs375947 IL12RB1 Nonsynonymous SNV M365T 0.364 0.354 0.333 131 427 136 0.336 98 73 27 18 20 Benign 0.001 25016 chr17 17053471 17053471 A G rs867240370 MPRIP Nonsynonymous SNV D580G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 31 25017 chr6 10894381 10894381 G A rs6456746 SYCP2L Nonsynonymous SNV V94I 0.083 0.047 0.071 36 98 18 0.092 21 4 1 1 1 0.525 25018 chr17 33806546 33806546 G A rs12451679 SLFN12L Nonsynonymous SNV S228L 0.028 0.023 0.014 8 33 9 0.021 4 0 0 0 0 17.43 25019 chr6 42946490 42946490 C A rs9462858 PEX6 Synonymous SNV V133V 0.42 0.456 0.435 176 493 175 0.451 128 105 43 28 39 Benign 9.096 25020 chr17 33772658 33772658 G T rs8072510 SLFN13 Stop gain Y14X 0.108 0.109 0.112 47 127 42 0.121 33 6 3 3 3 27.6 25021 chr6 42992808 42992808 T C rs3749904 RRP36 Synonymous SNV N72N 0.126 0.104 0.15 46 148 40 0.118 44 7 1 4 2 0.468 25022 chr19 18186575 18186575 G A rs17852635 IL12RB1 Synonymous SNV P228P 0.362 0.349 0.333 134 425 134 0.344 98 70 26 18 21 Benign 8.077 25023 chr6 42992825 42992825 C G rs3749903 RRP36 Nonsynonymous SNV A78G 0.126 0.104 0.15 46 148 40 0.118 44 7 1 4 2 0.055 25024 chr19 18186618 18186618 T C rs11575934 IL12RB1 Nonsynonymous SNV Q214R 0.362 0.349 0.333 134 425 134 0.344 98 70 26 18 21 Benign/Likely benign 0.002 25025 chr17 1540106 1540106 G A rs34849297 SCARF1 Nonsynonymous SNV S498L 0.131 0.115 0.129 51 154 44 0.131 38 11 2 2 4 16.28 25026 chr17 33876083 33876083 G A rs1001441 SLFN14 Synonymous SNV T638T 0.097 0.076 0.061 32 114 29 0.082 18 10 1 0 1 8.028 25027 chr17 21318912 21318912 C A rs35011501 KCNJ12, KCNJ18 Synonymous SNV I86I 0.108 0.091 0.133 42 127 35 0.108 39 0 0 0 0 14.35 25028 chr19 18188408 18188408 C T rs11575926 IL12RB1 Nonsynonymous SNV R156H 0.175 0.161 0.167 64 206 62 0.164 49 17 5 4 5 Benign/Likely benign 4.655 25029 chr17 33814758 33814758 T C rs4796089 SLFN12L Star tloss M1? 0.103 0.112 0.119 49 121 43 0.126 35 6 1 3 2 2.347 25030 chr17 33880003 33880003 C G rs28498569 SLFN14 Synonymous SNV V550V 0.105 0.096 0.085 33 123 37 0.085 25 10 3 1 1 8.13 25031 chr6 42995211 42995211 A G rs1138141 RRP36 Synonymous SNV K208K 0.126 0.102 0.146 47 148 39 0.121 43 7 1 3 2 0.065 25032 chr6 43008298 43008298 C T rs2273917 CUL7 Synonymous SNV L1415L 0.124 0.099 0.15 45 146 38 0.115 44 6 1 4 2 Benign 11.66 25033 chr19 1819125 1819125 T C rs2396359 REXO1 Nonsynonymous SNV S886G 0.199 0.161 0.218 73 234 62 0.187 64 21 4 7 8 10.3 25034 chr6 11094570 11094570 T A SMIM13 Synonymous SNV T8T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.29 25035 chr6 43014298 43014298 T C rs9394939 CUL7 Synonymous SNV Q897Q 0.955 0.956 0.963 376 1121 367 0.964 283 535 175 136 181 Benign 1.657 25036 chr19 18197635 18197635 G A rs436857 IL12RB1 Nonsynonymous SNV P40L 0.183 0.177 0.194 78 215 68 0.2 57 23 5 6 8 Benign 7.516 25037 chr6 43014299 43014299 T C rs9381231 CUL7 Nonsynonymous SNV Q897R 0.955 0.956 0.963 376 1121 367 0.964 283 535 175 136 181 Benign 6.811 25038 chr17 31618997 31618997 C A rs112647385 ASIC2 Nonsynonymous SNV R46L 0.226 0.292 0.241 96 265 112 0.246 71 55 33 15 21 23.9 25039 chr19 18197744 18197744 T A rs393548 IL12RB1 0.188 0.177 0.224 79 221 68 0.203 66 25 5 10 8 Benign 0.194 25040 chr6 11193860 11193860 G A rs16871074 NEDD9 Synonymous SNV D26D 0.226 0.185 0.224 82 265 71 0.21 66 33 5 5 9 13.69 25041 chr17 34072031 34072031 G A rs56386706 GAS2L2 Nonsynonymous SNV R829W 0.043 0.031 0.058 19 51 12 0.049 17 1 0 0 0 21.2 25042 chr19 1821637 1821637 A G rs4807145 REXO1 Nonsynonymous SNV S759P 0.799 0.773 0.803 318 938 297 0.815 236 375 116 93 129 3.582 25043 chr17 33881734 33881734 A G rs321614 LOC107985033 0.413 0.406 0.51 159 485 156 0.408 150 112 36 35 42 9.831 25044 chr6 43020188 43020188 G A rs4711738 CUL7 Synonymous SNV D165D 0.101 0.078 0.143 33 119 30 0.085 42 6 0 4 0 Benign 4.396 25045 chr6 11213832 11213832 T C rs3734404 NEDD9 Synonymous SNV S47S 0.383 0.378 0.374 140 450 145 0.359 110 87 25 20 22 6.596 25046 chr17 33884804 33884804 T C rs10512472 SLFN14 Nonsynonymous SNV Q93R 0.226 0.185 0.17 89 265 71 0.228 50 38 3 2 9 15.07 25047 chr6 43040666 43040666 A T rs41274920 KLC4 Synonymous SNV G454G 0.056 0.023 0.068 20 66 9 0.051 20 0 0 0 0 2.988 25048 chr19 18234441 18234441 C T rs740691 MAST3 Synonymous SNV H174H 0.412 0.43 0.463 164 484 165 0.421 136 104 34 33 35 12.37 25049 chr17 15950400 15950400 C T rs61753149 NCOR1 Nonsynonymous SNV A2079T 0.014 0.008 0.007 2 17 3 0.005 2 1 0 0 0 Benign 24 25050 chr6 43109751 43109751 G A rs6905948 PTK7 Synonymous SNV G487G 0.443 0.406 0.415 197 520 156 0.505 122 120 24 24 53 12.19 25051 chr19 18245512 18245512 C T rs2270623 MAST3 Synonymous SNV I536I 0.409 0.427 0.456 166 480 164 0.426 134 102 33 32 35 9.342 25052 chr6 43152366 43152366 C A rs41274928 CUL9 Synonymous SNV G106G 0.032 0.029 0.058 9 37 11 0.023 17 0 0 1 0 13.73 25053 chr19 18248146 18248146 T C rs541225 MAST3 Synonymous SNV A661A 0.919 0.914 0.888 363 1079 351 0.931 261 495 159 117 168 8.15 25054 chr17 34190069 34190069 C A rs115641363 HEATR9 Nonsynonymous SNV G189V 0.005 0.003 0.003 3 6 1 0.008 1 1 0 0 0 8.249 25055 chr6 12122773 12122773 T C rs2228211 HIVEP1 Synonymous SNV T915T 0.169 0.185 0.105 53 198 71 0.136 31 14 7 2 6 Benign 0.002 25056 chr19 18255359 18255359 G A rs8108738 MAST3 Nonsynonymous SNV G861S 0.407 0.414 0.452 166 478 159 0.426 133 101 33 32 35 13.96 25057 chr6 43154091 43154091 C G rs941849 CUL9 Synonymous SNV L383L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.271 25058 chr17 33998802 33998802 G C rs1049379 AP2B1 Synonymous SNV V673V 0.382 0.406 0.463 148 449 156 0.379 136 89 30 32 29 5.891 25059 chr6 12162053 12162053 C T rs777250624 HIVEP1 Nonsynonymous SNV P2290L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.662 25060 chr6 43250710 43250710 G C rs3800295 TTBK1 Nonsynonymous SNV E744D 0.095 0.107 0.112 23 111 41 0.059 33 4 1 0 0 0.001 25061 chr17 34073301 34073301 C T rs56135703 GAS2L2 Synonymous SNV E405E 0.02 0.018 0.014 8 24 7 0.021 4 0 0 0 0 0.468 25062 chr17 32957114 32957114 G A rs56879769 TMEM132E Nonsynonymous SNV V476I 0.027 0.031 0.034 10 32 12 0.026 10 0 0 0 0 Benign 21 25063 chr19 18257750 18257750 C T rs2072490 MAST3 Synonymous SNV G1045G 0.405 0.414 0.459 166 475 159 0.426 135 99 33 32 35 17.1 25064 chr19 18273047 18273047 T C rs1011320 PIK3R2 Nonsynonymous SNV S313P 0.945 0.935 0.939 377 1109 359 0.967 276 523 167 131 182 Benign 0.006 25065 chr17 34091078 34091078 C G rs4795087 C17orf50 Nonsynonymous SNV D22E 0.155 0.219 0.167 65 182 84 0.167 49 12 7 5 7 7.835 25066 chr6 43250726 43250728 GAA - rs113160341 TTBK1 E771del 0.187 0.201 0.194 69 219 77 0.177 57 26 7 6 4 25067 chr17 32962004 32962004 C T rs73988752 TMEM132E Synonymous SNV T625T 0.028 0.031 0.041 10 33 12 0.026 12 0 0 0 0 Benign 14.43 25068 chr6 43251118 43251118 C T rs45515398 TTBK1 Synonymous SNV D880D 0.114 0.138 0.15 32 134 53 0.082 44 5 5 2 1 9.728 25069 chr19 1827565 1827565 A G rs10415018 REXO1 Nonsynonymous SNV V408A 0.149 0.115 0.109 40 175 44 0.103 32 14 3 1 4 0.001 25070 chr17 34171827 34171827 C T rs4251786 TAF15 Synonymous SNV Y505Y 0.164 0.177 0.102 80 193 68 0.205 30 20 3 3 9 12.01 25071 chr17 32962050 32962050 C T rs75594429 TMEM132E Nonsynonymous SNV H641Y 0.027 0.031 0.027 10 32 12 0.026 8 0 0 0 0 Benign 23.6 25072 chr6 43251912 43251912 A G rs3800297 TTBK1 Nonsynonymous SNV K1145R 0.179 0.188 0.252 49 210 72 0.126 74 31 8 9 3 0.862 25073 chr19 18279638 18279638 T C rs273269 PIK3R2 Synonymous SNV S637S 0.901 0.901 0.857 357 1058 346 0.915 252 475 155 109 163 Benign 2.523 25074 chr17 17716113 17716113 G A SREBF1 Synonymous SNV A1065A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 25075 chr17 3300775 3300775 A G rs201027671 OR1E1 Synonymous SNV T310T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 25076 chr19 18285944 18285944 G A rs11554159 IFI30 Nonsynonymous SNV R76Q 0.333 0.315 0.327 145 391 121 0.372 96 54 22 18 27 23.8 25077 chr6 13814461 13814461 T C rs371767736 MCUR1 Synonymous SNV S67S 0.011 0.016 0.01 3 13 6 0.008 3 1 0 0 0 0.092 25078 chr6 43252029 43252029 T C rs3800298 TTBK1 Nonsynonymous SNV L1184S 0.223 0.255 0.299 65 262 98 0.167 88 38 12 11 7 0.004 25079 chr17 17723595 17723595 G A rs115855236 SREBF1 Nonsynonymous SNV P87L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.3 25080 chr19 18288069 18288069 A G rs7125 IFI30 Synonymous SNV P201P 0.616 0.63 0.588 253 723 242 0.649 173 232 79 50 82 0.004 25081 chr6 43270097 43270097 T C rs2651184 SLC22A7 Synonymous SNV A405A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.46 25082 chr6 15497304 15497304 G A rs748623220 JARID2 Synonymous SNV K444K 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 Likely benign 8.912 25083 chr19 18304700 18304700 A G rs874628 MPV17L2 Nonsynonymous SNV M72V 0.349 0.349 0.323 152 410 134 0.39 95 63 26 21 31 24.5 25084 chr6 43270151 43270151 C T rs2270860 SLC22A7 Synonymous SNV S423S 0.319 0.349 0.429 132 374 134 0.338 126 80 32 23 27 5.921 25085 chr17 26946680 26946680 G A rs150494965 KIAA0100 Synonymous SNV I1735I 0.015 0.013 0.02 6 18 5 0.015 6 0 0 0 0 11.94 25086 chr17 33286621 33286621 C T rs17852354 CCT6B Synonymous SNV V62V 0.066 0.06 0.041 20 77 23 0.051 12 3 0 0 1 11.72 25087 chr19 18305824 18305824 C T rs2271881 MPV17L2 Synonymous SNV P164P 0.409 0.406 0.432 175 480 156 0.449 127 101 32 31 39 19.25 25088 chr6 43273604 43273604 A G rs2242416 CRIP3 Nonsynonymous SNV I144T 0.513 0.497 0.459 204 602 191 0.523 135 156 47 23 53 23.8 25089 chr19 18329240 18329240 T C rs1042050 PDE4C Synonymous SNV E147E 0.684 0.708 0.609 270 803 272 0.692 179 277 98 51 95 0.205 25090 chr19 18368529 18368529 C T rs61740687 IQCN Nonsynonymous SNV V1189I 0.019 0.036 0.02 7 22 14 0.018 6 0 1 0 0 9.722 25091 chr17 1795180 1795180 T C rs2230931 RPA1 Synonymous SNV S476S 0.188 0.151 0.17 58 221 58 0.149 50 25 8 7 3 7.118 25092 chr6 43306346 43306346 A G rs1459675 ZNF318 Nonsynonymous SNV V1797A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 25093 chr19 18368810 18368810 G T rs999813 IQCN Nonsynonymous SNV P1095H 0.425 0.443 0.415 140 499 170 0.359 122 107 34 20 32 0.045 25094 chr6 16327892 16327915 TGCTGCTGCTGCTGCTGATGCTGA - rs760281203 ATXN1 H209_Q216del 0 0 0.003 2 0 0 0.005 1 0 0 0 0 25095 chr6 16328068 16328068 T C rs2072736 ATXN1 Nonsynonymous SNV S149G 0.036 0.039 0.044 12 42 15 0.031 13 0 0 0 0 Likely benign 0.016 25096 chr6 43307399 43307399 G A rs145629243 ZNF318 Nonsynonymous SNV P1446L 0.018 0.021 0.003 11 21 8 0.028 1 0 0 0 1 Benign 23.8 25097 chr19 18497024 18497024 G C rs1059519 GDF15 Nonsynonymous SNV V9L 0.622 0.633 0.609 234 730 243 0.6 179 233 81 53 72 0.07 25098 chr6 17541324 17541324 A G rs34206659 CAP2 Nonsynonymous SNV Y204C 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 3.414 25099 chr6 43402536 43402536 G A rs145341963 ABCC10 Nonsynonymous SNV V477I 0.007 0.008 0 6 8 3 0.015 0 0 0 0 1 12.17 25100 chr19 18499422 18499422 C G rs1058587 GDF15 Nonsynonymous SNV H202D 0.208 0.247 0.228 74 244 95 0.19 67 32 15 7 7 1.872 25101 chr17 33289046 33289046 G C rs3744355 ZNF830 Nonsynonymous SNV S154T 0.103 0.099 0.058 42 121 38 0.108 17 9 1 0 5 6.136 25102 chr19 18502835 18502835 G A rs6512265 LRRC25 Nonsynonymous SNV P294S 0.629 0.63 0.616 236 738 242 0.605 181 234 78 53 71 0.037 25103 chr6 43406501 43406501 C T rs2277122 ABCC10 Synonymous SNV L671L 0.068 0.068 0.078 13 80 26 0.033 23 2 0 0 0 15.34 25104 chr17 33331503 33331503 G A rs140462567 LIG3 Nonsynonymous SNV R1003Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 24.8 25105 chr6 17640189 17640189 T A rs2229508 NUP153 Synonymous SNV L609L 0.01 0.016 0.003 2 12 6 0.005 1 0 0 0 0 10.41 25106 chr6 43596814 43596814 C G rs112851070 GTPBP2 Nonsynonymous SNV G29A 0.049 0.052 0 22 57 20 0.056 0 2 0 0 1 12.82 25107 chr19 18538742 18538742 A C rs10405636 SSBP4 Synonymous SNV R77R 0.269 0.26 0.296 102 316 100 0.262 87 40 12 16 14 0.003 25108 chr6 17640216 17640216 T G rs2228376 NUP153 Synonymous SNV A600A 0.011 0.005 0.003 4 13 2 0.01 1 0 0 0 0 10.51 25109 chr19 1854557 1854557 A G rs3746045 KLF16 Synonymous SNV P220P 0.253 0.206 0.17 91 297 79 0.233 50 42 10 7 11 0.085 25110 chr6 43638636 43638636 G A rs16896629 RSPH9 Nonsynonymous SNV V261I 0.077 0.052 0.075 17 90 20 0.044 22 3 0 0 0 Benign 16.5 25111 chr17 34871721 34871721 T C rs2306595 MYO19 Nonsynonymous SNV N176S 0.089 0.12 0.068 28 104 46 0.072 20 6 1 0 0 23.6 25112 chr19 18545786 18545786 G T rs1045631 ISYNA1 Synonymous SNV T410T 0.175 0.167 0.163 73 205 64 0.187 48 12 7 5 6 0.082 25113 chr6 17665479 17665479 G C rs6906499 NUP153 Nonsynonymous SNV N402K 0.201 0.216 0.201 63 236 83 0.162 59 34 7 6 5 0.583 25114 chr19 18546678 18546678 T C rs2303697 ISYNA1 Synonymous SNV L215L 0.269 0.26 0.289 99 316 100 0.254 85 40 12 16 13 2.652 25115 chr19 18679379 18679379 C G rs7648 KXD1 Nonsynonymous SNV P157A 0.481 0.432 0.476 193 565 166 0.495 140 139 42 35 43 7.283 25116 chr6 43738977 43738977 C T rs25648 VEGFA Synonymous SNV S178S 0.149 0.133 0.116 53 175 51 0.136 34 13 4 4 1 16.89 25117 chr6 17706404 17706404 G A rs13219815 LOC105374952 0.094 0.081 0.041 30 110 31 0.077 12 7 1 0 0 14.23 25118 chr17 34893326 34893326 A G rs72818370 PIGW Nonsynonymous SNV N126D 0.093 0.128 0.075 33 109 49 0.085 22 7 1 0 0 11.84 25119 chr17 34853574 34853574 G A rs180800232 ZNHIT3 Synonymous SNV A137A 0.021 0.057 0 12 25 22 0.031 0 0 1 0 0 0.233 25120 chr6 17706493 17706493 G A rs13219933 LOC105374952 0.095 0.081 0.054 32 112 31 0.082 16 7 1 0 0 7.863 25121 chr6 44081718 44081718 G A rs6883 MRPL14 Synonymous SNV F66F 0.527 0.487 0.503 188 619 187 0.482 148 160 45 42 47 8.127 25122 chr17 33430313 33430313 T C rs28363284 RAD51D Nonsynonymous SNV E121G 0.009 0.021 0.014 5 10 8 0.013 4 0 0 0 0 Benign/Likely benign 24.4 25123 chr19 18710535 18710535 G A rs2238647 CRLF1 Synonymous SNV N79N 0.166 0.167 0.177 59 195 64 0.151 52 16 8 3 8 8.832 25124 chr6 17781508 17781508 T G rs201386556 KIF13A Nonsynonymous SNV Q1177P 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 23.8 25125 chr6 44093742 44093742 C T rs1935611 MRPL14 Nonsynonymous SNV C30Y 0.528 0.492 0 187 620 189 0.479 0 161 47 0 46 5.355 25126 chr19 18726856 18726856 T C rs709679 TMEM59L Synonymous SNV L160L 0.376 0.362 0.452 134 442 139 0.344 133 87 30 28 22 1.74 25127 chr17 18058468 18058468 G A rs140140417 MYO15A Nonsynonymous SNV V2757M 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.26 25128 chr6 44151490 44151490 G A rs7761137 CAPN11 Nonsynonymous SNV S728N 0.316 0.302 0.299 133 371 116 0.341 88 63 19 16 23 1.455 25129 chr19 18775077 18775077 C T rs1076235 KLHL26 Synonymous SNV A30A 0.237 0.219 0.241 86 278 84 0.221 71 36 8 12 7 9.805 25130 chr17 34958598 34958598 G C rs78943308 MRM1 Nonsynonymous SNV C120S 0.084 0.128 0.075 34 99 49 0.087 22 5 1 0 1 26.6 25131 chr19 18778445 18778445 C G rs10421503 KLHL26 Nonsynonymous SNV Q109E 0.554 0.523 0.585 210 650 201 0.538 172 184 55 49 53 2.649 25132 chr17 27893893 27893893 C A rs62070806 ABHD15 Nonsynonymous SNV R31L 0.088 0.089 0.088 36 103 34 0.092 26 8 2 3 0 24.4 25133 chr19 18876309 18876309 A G rs3746266 CRTC1 Nonsynonymous SNV T328A 0.202 0.185 0.17 75 237 71 0.192 50 25 7 6 10 20.6 25134 chr6 44185254 44185254 T C rs3734701 MYMX Nonsynonymous SNV C16R 0.848 0.836 0.874 349 995 321 0.895 257 418 132 115 159 10.05 25135 chr6 18122526 18122526 A G rs115931931 NHLRC1 Synonymous SNV H104H 0.06 0.068 0.068 29 71 26 0.074 20 2 3 3 1 Benign/Likely benign 0.005 25136 chr6 44218120 44218120 A G rs13296 HSP90AB1 Synonymous SNV K247K 0.742 0.682 0.731 291 871 262 0.746 215 319 84 77 112 10.51 25137 chr6 18139214 18139214 G A rs2842934 TPMT Synonymous SNV I158I 0.75 0.711 0.639 281 881 273 0.721 188 339 94 73 101 Likely benign 14.07 25138 chr19 18980054 18980054 - GCC rs571387097 GDF1 A158_P159insA 0.05 0.034 0.048 23 59 13 0.059 14 8 0 0 2 25139 chr6 44220889 44220889 C T rs150398983 HSP90AB1 Synonymous SNV D613D 0.007 0.008 0.003 7 8 3 0.018 1 0 0 0 1 Benign 15.18 25140 chr19 18980172 18980172 G A rs4808863 GDF1 Nonsynonymous SNV A118V 0.412 0.43 0.398 168 484 165 0.431 117 102 39 30 31 Benign 0.153 25141 chr6 18161563 18161563 G A rs4716224 KDM1B Synonymous SNV K31K 0.352 0.339 0.361 145 413 130 0.372 106 75 21 22 25 13.86 25142 chr6 44243559 44243559 A G rs3734710 TMEM151B Synonymous SNV L332L 0.649 0.682 0.605 249 762 262 0.638 178 239 93 58 78 6.029 25143 chr17 35609866 35609866 C T rs2229416 ACACA Synonymous SNV Q546Q 0.156 0.135 0.167 43 183 52 0.11 49 15 6 6 1 Benign 11.28 25144 chr6 18213988 18213988 C T rs6903583 KDM1B Synonymous SNV A463A 0.166 0.138 0.139 64 195 53 0.164 41 17 4 6 3 20.8 25145 chr6 44247951 44247951 T G rs484757 TCTE1 Synonymous SNV I491I 0.952 0.958 0.929 381 1118 368 0.977 273 536 177 126 186 11.44 25146 chr19 19011244 19011244 T C rs1127821 COPE Synonymous SNV P199P 0.532 0.542 0.541 217 625 208 0.556 159 170 50 48 59 0.26 25147 chr6 44250165 44250165 A G rs516582 TCTE1 Synonymous SNV G326G 0.774 0.792 0.745 301 909 304 0.772 219 356 119 85 113 4.848 25148 chr17 33495341 33495341 G A rs35879240 UNC45B Synonymous SNV K471K 0.012 0.023 0.014 4 14 9 0.01 4 0 0 0 0 Benign 13.26 25149 chr19 19023853 19023853 T C rs3177137 COPE Synonymous SNV L43L 0.535 0.542 0.548 218 628 208 0.559 161 171 51 48 60 9.057 25150 chr17 3559823 3559823 G A rs1800528 CTNS Synonymous SNV T168T 0.163 0.206 0.139 63 191 79 0.162 41 8 12 5 6 Benign 13.77 25151 chr6 44253749 44253749 A G rs324143 TCTE1 Synonymous SNV R266R 0.951 0.958 0.929 381 1117 368 0.977 273 535 177 126 186 0.047 25152 chr19 19040312 19040312 G C rs1059240 HOMER3 Nonsynonymous SNV S306R 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 12.93 25153 chr6 44253765 44253765 A G rs2297336 TCTE1 Nonsynonymous SNV F261S 0.175 0.164 0.187 81 206 63 0.208 55 25 4 10 6 29.8 25154 chr17 2291323 2291323 C T rs185455119 MNT Synonymous SNV K276K 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 8.423 25155 chr19 19049194 19049194 G A rs11540741 HOMER3 Synonymous SNV L91L 0.169 0.177 0.153 98 198 68 0.251 45 16 6 7 11 8.695 25156 chr6 21201493 21201493 G A rs9465994 CDKAL1 Synonymous SNV S512S 0.385 0.391 0.357 165 452 150 0.423 105 87 29 12 33 13.18 25157 chr19 19049198 19049198 G A rs1064351 HOMER3 Synonymous SNV Y89Y 0.477 0.438 0.49 174 560 168 0.446 144 128 36 40 36 7.936 25158 chr6 44255459 44255459 G A rs324146 TCTE1 Nonsynonymous SNV P35L 0.774 0.792 0.745 301 909 304 0.772 219 356 119 85 113 8.545 25159 chr17 35743010 35743010 C G rs1714987 C17orf78 Nonsynonymous SNV T152S 0.109 0.156 0.126 32 128 60 0.082 37 13 5 5 3 0.125 25160 chr6 22294764 22294764 C T rs6240 PRL Synonymous SNV V26V 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 8.023 25161 chr19 19105259 19105259 G A rs4808897 SUGP2 Synonymous SNV D1055D 0.134 0.117 0.112 57 157 45 0.146 33 17 3 2 6 12.14 25162 chr19 19136541 19136541 C T rs4808907 SUGP2 Nonsynonymous SNV G206S 0.706 0.732 0.738 274 829 281 0.703 217 301 100 77 95 0.013 25163 chr17 33592621 33592621 C T rs2291189 SLFN5 Nonsynonymous SNV A797V 0.062 0.073 0.075 22 73 28 0.056 22 1 1 1 0 9.376 25164 chr6 44268371 44268371 T C rs325008 AARS2 Synonymous SNV S957S 0.951 0.964 0.932 381 1117 370 0.977 274 535 179 127 186 Benign 1.017 25165 chr6 44269193 44269193 C T rs498512 AARS2 Synonymous SNV K869K 0.742 0.776 0.718 289 871 298 0.741 211 329 118 79 101 Benign 16.51 25166 chr17 2593972 2593972 G A rs202053376 CLUH Synonymous SNV T1321T 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 6.366 25167 chr19 19212658 19212658 G A rs56144126 SLC25A42 Synonymous SNV A50A 0.129 0.117 0.109 56 152 45 0.144 32 16 3 2 6 12.41 25168 chr17 35902225 35902225 C G rs3110623 SYNRG Synonymous SNV P811P 0.356 0.443 0.422 130 418 170 0.333 124 83 44 25 22 12.14 25169 chr6 44275011 44275011 T C rs324136 AARS2 Nonsynonymous SNV I339V 0.952 0.964 0.935 381 1118 370 0.977 275 536 179 128 186 0.161 25170 chr19 19230868 19230868 A G rs756791 TMEM161A Synonymous SNV A334A 0.83 0.839 0.83 328 975 322 0.841 244 409 134 103 136 0.232 25171 chr17 2596180 2596180 G A rs111246591 MIR6776 0.011 0.008 0.017 5 13 3 0.013 5 0 0 0 0 3.499 25172 chr19 19307797 19307797 C T rs72997200 RFXANK Synonymous SNV T70T 0.109 0.091 0.075 48 128 35 0.123 22 8 0 1 5 Conflicting interpretations of pathogenicity 7.899 25173 chr19 19369435 19369435 A G rs2074295 HAPLN4 Synonymous SNV S238S 0.285 0.286 0.255 126 335 110 0.323 75 45 12 8 20 1.68 25174 chr6 44320548 44320548 T A rs4714783 SPATS1 Synonymous SNV S75S 0.793 0.771 0.741 310 931 296 0.795 218 370 115 81 124 4.788 25175 chr19 19413092 19413092 C T rs17751061 SUGP1 Nonsynonymous SNV R290H 0.225 0.219 0.211 106 264 84 0.272 62 25 8 6 16 35 25176 chr6 46047640 46047640 T C rs723580 CLIC5 Nonsynonymous SNV T114A 0.044 0.049 0.051 25 52 19 0.064 15 3 0 0 1 Benign 0.001 25177 chr17 29645843 29645843 A C rs573519948 EVI2A Synonymous SNV P63P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.006 25178 chr19 1952850 1952850 C G rs45437201 CSNK1G2-AS1 0 0 0.17 0 0 0 0 50 0 0 4 0 2.818 25179 chr19 19606634 19606634 G A rs1047361 GATAD2A Synonymous SNV S232S 0.395 0.383 0.367 162 464 147 0.415 108 84 29 20 39 14.83 25180 chr6 46135283 46135283 A G rs34450398 ENPP5 Synonymous SNV H145H 0.05 0.06 0.054 34 59 23 0.087 16 2 0 0 2 0.198 25181 chr17 263292 263292 G A rs187527105 C17orf97 Nonsynonymous SNV D220N 0.063 0.044 0.024 26 74 17 0.067 7 3 0 0 0 6.622 25182 chr19 19625547 19625547 A G rs7250893 TSSK6 Synonymous SNV Y230Y 0.396 0.383 0.371 163 465 147 0.418 109 84 29 20 39 0.013 25183 chr6 46135884 46135884 C G rs34109856 ENPP5 Nonsynonymous SNV R39P 0.05 0.06 0.054 34 59 23 0.087 16 2 0 0 2 32 25184 chr17 17700774 17700774 G T rs117995220 RAI1 Synonymous SNV L1504L 0.011 0.01 0 9 13 4 0.023 0 0 0 0 0 Benign 0.412 25185 chr19 19651140 19651140 A G rs4808970 CILP2 Synonymous SNV E97E 0.23 0.221 0.231 106 270 85 0.272 68 25 9 7 17 6.497 25186 chr17 33772689 33772689 T C rs12943866 SLFN13 Nonsynonymous SNV N4S 0.101 0.135 0.122 45 119 52 0.115 36 7 5 3 3 0.008 25187 chr6 46623698 46623698 T C rs3757241 SLC25A27 Synonymous SNV A75A 0.817 0.799 0.83 322 959 307 0.826 244 393 125 101 133 6.835 25188 chr19 19654117 19654117 G C rs7252453 CILP2 Synonymous SNV L346L 0.244 0.245 0.241 108 287 94 0.277 71 29 12 9 19 0.05 25189 chr6 46657057 46657057 A G rs3799277 TDRD6 Nonsynonymous SNV T398A 0.817 0.799 0.83 322 959 307 0.826 244 393 125 101 133 0.001 25190 chr19 19654189 19654189 G A rs45556231 CILP2 Synonymous SNV S370S 0.23 0.221 0.231 106 270 85 0.272 68 25 9 7 17 7.997 25191 chr17 3631241 3631241 A G rs2976230 ITGAE Nonsynonymous SNV V1019A 0.234 0.292 0.299 89 275 112 0.228 88 24 15 15 8 10.33 25192 chr19 19655670 19655670 C T rs11669558 CILP2 Synonymous SNV S772S 0.227 0.214 0.231 103 266 82 0.264 68 25 8 7 16 8.817 25193 chr17 33802156 33802156 T G rs3744372 SLFN12L Nonsynonymous SNV Y518S 0.17 0.206 0.163 77 200 79 0.197 48 20 8 5 8 2.851 25194 chr17 263322 263322 G A rs200728381 C17orf97 Nonsynonymous SNV E230K 0.062 0.044 0.024 24 73 17 0.062 7 3 0 0 0 0.521 25195 chr19 19656615 19656615 C T rs61744761 CILP2 Synonymous SNV G1087G 0.227 0.214 0.231 103 266 82 0.264 68 25 8 7 16 0.457 25196 chr6 46672943 46672943 A G rs1051931 PLA2G7 Nonsynonymous SNV V379A 0.806 0.797 0.799 317 946 306 0.813 235 383 124 98 129 risk factor 23.6 25197 chr17 36474601 36474601 A G rs59939216 MRPL45 Synonymous SNV R159R 0.09 0.06 0.061 33 106 23 0.085 18 6 1 1 2 7.116 25198 chr19 19735257 19735257 G T rs1266503 LPAR2 Synonymous SNV S288S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.13 25199 chr17 36483847 36483847 G C rs4399578 GPR179 Nonsynonymous SNV Q1869E 0.011 0.008 0.01 2 13 3 0.005 3 0 0 0 0 Benign 0.001 25200 chr19 19825258 19825258 G A rs61731046 ZNF14 Synonymous SNV T14T 0.131 0.112 0.075 50 154 43 0.128 22 12 2 2 2 11.63 25201 chr6 46832813 46832813 G A rs614826 ADGRF5 Synonymous SNV V652V 0.695 0.688 0.694 259 816 264 0.664 204 283 91 71 88 10.86 25202 chr19 19868879 19868879 A C rs247782 LINC00663 0 0 0.374 0 0 0 0 110 0 0 24 0 7.219 25203 chr19 1997363 1997363 A G rs1610045 BTBD2 Synonymous SNV A169A 0.359 0.344 0.333 129 421 132 0.331 98 72 20 17 19 5.576 25204 chr6 46834685 46834685 G A rs586024 ADGRF5 Nonsynonymous SNV T604M 0.873 0.88 0.888 344 1025 338 0.882 261 448 147 115 153 6.727 25205 chr17 36485571 36485571 C T rs74742940 GPR179 Nonsynonymous SNV R1294Q 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 Benign 10.11 25206 chr17 33805180 33805180 G C rs2304967 SLFN12L Nonsynonymous SNV A373G 0.17 0.206 0.163 76 200 79 0.195 48 20 8 5 8 0.408 25207 chr19 20133846 20133846 C T rs7255165 ZNF682 Nonsynonymous SNV V33M 0.208 0.206 0.187 79 244 79 0.203 55 25 6 5 10 12.5 25208 chr17 16852206 16852206 A C rs35062843 TNFRSF13B Synonymous SNV P97P 0.031 0.016 0.027 11 36 6 0.028 8 1 0 0 1 Benign/Likely benign 0.015 25209 chr6 24797647 24797647 A G rs2251702 ARMH2 Synonymous SNV H228H 0.208 0.185 0.248 89 244 71 0.228 73 29 7 13 4 0.121 25210 chr17 1945354 1945354 C A rs145234879 OVCA2 Synonymous SNV R5R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 19.39 25211 chr6 46856100 46856100 G A rs678312 ADGRF5 Synonymous SNV T100T 0.861 0.854 0.82 335 1011 328 0.859 241 440 139 96 144 7.017 25212 chr19 2078409 2078409 A G rs2074893 MOB3A Synonymous SNV L51L 0.378 0.336 0.354 138 444 129 0.354 104 83 20 18 18 1.147 25213 chr17 33806332 33806332 C T rs8066132 SLFN12L Synonymous SNV G299G 0.163 0.193 0.15 65 191 74 0.167 44 18 8 4 6 7.697 25214 chr17 36484067 36484067 G A rs72832276 GPR179 Synonymous SNV G1795G 0.02 0.01 0.01 13 24 4 0.033 3 0 0 0 0 Benign/Likely benign 0.736 25215 chr6 47277181 47277181 C A rs200394782 TNFRSF21 Nonsynonymous SNV A23S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 20.3 25216 chr19 2078488 2078488 T C rs2074894 MOB3A Synonymous SNV P24P 0.371 0.331 0.354 139 436 127 0.356 104 82 20 18 19 0.004 25217 chr17 33806812 33806812 C T rs12451876 SLFN12L Synonymous SNV T139T 0.162 0.193 0.146 64 190 74 0.164 43 17 8 4 6 11.09 25218 chr17 3649214 3649214 G A rs1183610 ITGAE Synonymous SNV R721R 0.732 0.779 0.677 296 859 299 0.759 199 312 113 75 113 7.043 25219 chr6 24828490 24828490 C T rs9461073 RIPOR2 Nonsynonymous SNV R847Q 0.162 0.198 0.173 79 190 76 0.203 51 15 9 7 8 Benign 14.01 25220 chr19 2078491 2078491 C T rs10421450 MOB3A Synonymous SNV E23E 0.032 0.031 0.041 13 37 12 0.033 12 2 0 1 1 5.961 25221 chr19 20807438 20807438 A G rs62107362 ZNF626 Synonymous SNV H415H 0.88 0.906 0.83 346 1033 348 0.887 244 454 157 115 153 0.038 25222 chr6 47563692 47563692 C T rs2039503 CD2AP Synonymous SNV L402L 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 Benign 14.07 25223 chr19 21299774 21299774 - ATA rs36125838 ZNF714 Y102_E103insN 0.954 0.943 0.929 370 1120 362 0.949 273 536 170 130 176 25224 chr19 21300462 21300462 A G rs2884554 ZNF714 Nonsynonymous SNV K331R 0.846 0.872 0.813 338 993 335 0.867 239 417 145 104 146 13.92 25225 chr6 47624239 47624239 A G rs1485784 ADGRF2 Nonsynonymous SNV Y6C 0.68 0.669 0.701 268 798 257 0.687 206 275 89 72 91 8.534 25226 chr17 3657159 3657159 C T rs2272606 ITGAE Nonsynonymous SNV R482Q 0.635 0.69 0.656 263 746 265 0.674 193 233 87 62 90 20.6 25227 chr6 25426768 25426768 G A rs9358856 CARMIL1 Nonsynonymous SNV V77I 0.185 0.141 0.177 60 217 54 0.154 52 16 4 4 4 1.356 25228 chr19 2138654 2138654 T G rs25672 AP3D1 Synonymous SNV I52I 0.456 0.417 0.452 185 535 160 0.474 133 121 39 34 45 13.39 25229 chr6 47624299 47624299 A G rs9369730 ADGRF2 Nonsynonymous SNV H26R 0.681 0.674 0.701 268 800 259 0.687 206 275 89 72 91 0.001 25230 chr19 21477431 21477431 T C rs1781873 ZNF708 Nonsynonymous SNV K49E 0.601 0.609 0.582 239 705 234 0.613 171 219 73 51 71 0.003 25231 chr17 3657175 3657175 T C rs220479 ITGAE Nonsynonymous SNV I477V 0.745 0.794 0.755 308 875 305 0.79 222 325 118 83 122 0.001 25232 chr6 47646748 47646748 T C rs13212023 ADGRF2 Nonsynonymous SNV S117P 0.152 0.18 0.143 55 178 69 0.141 42 15 8 1 2 21.7 25233 chr6 25600827 25600827 T C rs34691813 CARMIL1 Synonymous SNV S1135S 0.054 0.055 0.054 30 63 21 0.077 16 0 1 0 4 7.531 25234 chr19 21492062 21492062 G A rs547516 ZNF708 Nonsynonymous SNV A7V 0.98 0.979 0.993 388 1151 376 0.995 292 564 184 145 193 0.012 25235 chr17 36622482 36622482 G C rs8075324 ARHGAP23 Synonymous SNV P186P 0.333 0.352 0.289 138 391 135 0.354 85 67 27 14 28 2.829 25236 chr6 47649265 47649265 T A rs17541107 ADGRF2 Nonsynonymous SNV L324M 0.317 0.307 0.303 106 372 118 0.272 89 66 20 7 12 0.011 25237 chr19 21544571 21544571 G A rs1142653 ZNF738 Nonsynonymous SNV D3N 0.597 0.609 0.571 240 701 234 0.615 168 214 74 49 70 0.002 25238 chr17 36667022 36667022 C T rs15537 ARHGAP23 Synonymous SNV P1430P 0.074 0.089 0.034 31 87 34 0.079 10 3 2 1 0 15.48 25239 chr19 21606429 21606429 G T rs4621113 ZNF493 Nonsynonymous SNV C195F 0.578 0.578 0.561 229 679 222 0.587 165 205 66 47 61 20.8 25240 chr6 47682604 47682604 A C rs9369738 ADGRF4 Nonsynonymous SNV K541N 0.897 0.901 0.901 346 1053 346 0.887 265 473 156 120 153 0.003 25241 chr19 21948570 21948570 T C rs12974842 ZNF100 Nonsynonymous SNV M8V 0.119 0.096 0.119 52 140 37 0.133 35 10 3 3 5 0.001 25242 chr6 47847179 47847179 A G rs3799276 PTCHD4 Synonymous SNV V467V 0.767 0.719 0.84 310 901 276 0.795 247 339 100 101 122 0.001 25243 chr17 36889559 36889559 C T rs2879097 CISD3 Nonsynonymous SNV R79C 0.241 0.227 0.173 102 283 87 0.262 51 43 9 5 14 26.5 25244 chr6 47847401 47847401 A G rs2068006 PTCHD4 Synonymous SNV A393A 0.662 0.594 0.718 252 777 228 0.646 211 250 63 76 79 0.217 25245 chr19 22154732 22154732 T C rs8108957 ZNF208 Nonsynonymous SNV D1035G 0.399 0.419 0.452 165 469 161 0.423 133 95 31 30 34 0.002 25246 chr6 49403282 49403282 T C rs8589 MMUT Nonsynonymous SNV I671V 0.553 0.555 0.622 206 649 213 0.528 183 188 61 54 51 Benign 3.021 25247 chr19 2226676 2226676 G A rs3815308 DOT1L Nonsynonymous SNV G1386S 0.537 0.508 0.456 219 631 195 0.562 134 161 55 32 58 1.121 25248 chr17 3301278 3301278 C T rs150989 OR1E1 Nonsynonymous SNV A143T 0.053 0.042 0.01 18 62 16 0.046 3 1 1 0 0 15.67 25249 chr17 36927393 36927393 C T rs774421628 PIP4K2B Nonsynonymous SNV G314S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.8 25250 chr17 37054772 37054772 C T rs1130638 LASP1 Synonymous SNV N63N 0.448 0.448 0.439 158 526 172 0.405 129 120 39 26 31 12 25251 chr6 49412399 49412399 G A rs150642856 MMUT Synonymous SNV S543S 0.017 0.01 0.02 6 20 4 0.015 6 0 0 0 0 Conflicting interpretations of pathogenicity 6.934 25252 chr6 25776949 25776949 G A rs11754288 SLC17A4 Nonsynonymous SNV A372T 0.411 0.44 0.439 188 483 169 0.482 129 98 30 26 42 14.23 25253 chr17 26919344 26919344 T C rs113667723 SPAG5 Synonymous SNV T306T 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 0.044 25254 chr19 2249477 2249477 G T rs10407022 AMH Nonsynonymous SNV S49I 0.886 0.875 0.83 355 1040 336 0.91 244 458 145 100 161 Benign 14.82 25255 chr17 37070658 37070658 A G rs525989 LASP1 Synonymous SNV S90S 0.712 0.727 0.524 265 836 279 0.679 154 289 102 61 98 0.277 25256 chr17 36997503 36997503 T C rs61752602 C17orf98 Nonsynonymous SNV Q47R 0.029 0.034 0.031 9 34 13 0.023 9 0 0 0 0 9.969 25257 chr6 49412433 49412433 C T rs1141321 MMUT Nonsynonymous SNV R532H 0.256 0.245 0.327 104 300 94 0.267 96 32 11 13 11 Benign 21.9 25258 chr17 37074932 37074932 C T rs3744075 LASP1 Synonymous SNV I173I 0.081 0.083 0.068 35 95 32 0.09 20 2 1 0 4 18.48 25259 chr19 2250469 2250469 G A rs17854573 AMH Synonymous SNV P182P 0.042 0.036 0.048 9 49 14 0.023 14 1 0 0 1 11.34 25260 chr6 49425521 49425521 C T rs2229384 MMUT Synonymous SNV K212K 0.555 0.549 0.619 207 651 211 0.531 182 189 60 53 52 Benign 12.15 25261 chr19 2251512 2251512 T A rs7252789 AMH Synonymous SNV G413G 0.836 0.807 0.84 329 982 310 0.844 247 417 127 115 143 Benign 0.45 25262 chr17 27225586 27225586 A T rs4795472 DHRS13 Nonsynonymous SNV L336Q 0.137 0.156 0.136 62 161 60 0.159 40 14 3 4 5 1.577 25263 chr19 2251817 2251817 T C rs10417628 AMH Nonsynonymous SNV V515A 0.981 0.987 0.983 381 1152 379 0.977 289 565 187 142 186 9.433 25264 chr6 49439805 49439805 G A rs4267943 CENPQ Nonsynonymous SNV G63R 0.257 0.242 0.33 104 302 93 0.267 97 32 11 14 11 0.775 25265 chr19 2252990 2252990 C G rs80043033 JSRP1 Nonsynonymous SNV G150A 0.213 0.208 0.214 90 250 80 0.231 63 28 10 5 11 20.6 25266 chr17 27286750 27286750 G A rs9907950 SEZ6 Synonymous SNV D579D 0.147 0.169 0.139 63 172 65 0.162 41 15 4 5 4 7.912 25267 chr6 49459978 49459978 A G rs2501968 CENPQ Nonsynonymous SNV D266G 0.455 0.453 0.378 191 534 174 0.49 111 130 43 21 45 22.7 25268 chr19 22706380 22706380 A G rs892048 LOC101929124 0 0 0.741 0 0 0 0 218 0 0 87 0 2.266 25269 chr6 25967068 25967068 C T rs2009610 TRIM38 Synonymous SNV D106D 0.141 0.151 0.139 50 165 58 0.128 41 19 4 6 1 14.66 25270 chr17 37316988 37316988 T C rs16522 ARL5C Nonsynonymous SNV Q116R 0.15 0.143 0.116 65 176 55 0.167 34 15 5 2 4 0.001 25271 chr19 2290499 2290499 C T rs7258841 LINGO3 Nonsynonymous SNV R426H 0.12 0.125 0.173 44 141 48 0.113 51 5 2 6 1 20.6 25272 chr6 49489397 49489397 C A rs9369905 GLYATL3 Nonsynonymous SNV A118D 0.364 0.398 0.296 147 427 153 0.377 87 79 30 13 24 25 25273 chr6 25972179 25972179 A G rs150462702 TRIM38 Nonsynonymous SNV Y197C 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 2.976 25274 chr19 23406165 23406165 T C rs2885604 ZNF724 Synonymous SNV S294S 0.846 0.867 0.69 345 993 333 0.885 203 426 144 87 151 0.011 25275 chr17 37319029 37319029 T G rs544198 ARL5C Nonsynonymous SNV M64L 0.222 0.208 0.18 82 261 80 0.21 53 29 8 5 5 14.37 25276 chr19 23542697 23542697 G C rs1821845 ZNF91 Synonymous SNV G996G 0.658 0.638 0.544 244 773 245 0.626 160 252 71 61 78 0.263 25277 chr6 26017628 26017628 G A rs373841901 H1-1 Synonymous SNV N111N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 1.902 25278 chr6 49494241 49494241 A G rs9367359 GLYATL3 Nonsynonymous SNV N161D 0.624 0.661 0.612 249 732 254 0.638 180 234 82 52 79 0.836 25279 chr19 23545250 23545250 A G rs1044095 ZNF91 Synonymous SNV T145T 0.62 0.599 0.575 229 728 230 0.587 169 228 60 55 68 0.099 25280 chr17 37319065 37319065 C T rs657672 ARL5C Nonsynonymous SNV V52M 0.147 0.138 0.116 63 173 53 0.162 34 15 5 2 4 17.97 25281 chr19 23837365 23837365 A C rs4380159 ZNF675 Nonsynonymous SNV L124V 1 1 0.983 389 1174 384 0.997 289 587 192 143 194 0.001 25282 chr6 49518914 49518914 C G rs6919674 C6orf141 Nonsynonymous SNV Q137E 1 1 0.99 389 1174 384 0.997 291 587 192 144 194 0.059 25283 chr17 3343534 3343534 C T rs9901726 SPATA22 Synonymous SNV P290P 0.021 0.01 0.02 5 25 4 0.013 6 0 0 0 0 14.91 25284 chr19 2389872 2389872 G C rs891174 TMPRSS9 Nonsynonymous SNV S30T 0.735 0.714 0.728 278 863 274 0.713 214 322 99 79 97 0.002 25285 chr17 37319103 37319103 T C rs657723 ARL5C Nonsynonymous SNV N39S 0.227 0.214 0.187 83 267 82 0.213 55 32 8 7 5 9.954 25286 chr6 51483961 51483961 T C rs9381994 PKHD1 Nonsynonymous SNV Q4048R 0.552 0.544 0.551 213 648 209 0.546 162 174 58 52 59 Benign 21.6 25287 chr19 23927252 23927252 C T rs1818990 ZNF681 Nonsynonymous SNV R367K 0.999 0.995 0.966 387 1173 382 0.992 284 586 191 141 193 0.01 25288 chr6 26056072 26056072 G C rs8384 H1-2 Synonymous SNV P195P 0.131 0.112 0.126 48 154 43 0.123 37 15 1 6 2 3.588 25289 chr6 51491884 51491884 T C rs4715227 PKHD1 Nonsynonymous SNV Q3899R 0.548 0.531 0.544 210 643 204 0.538 160 170 56 51 58 Benign 19.85 25290 chr19 23927468 23927468 A G rs1818989 ZNF681 Nonsynonymous SNV L295S 1 1 0.986 389 1174 384 0.997 290 587 192 144 194 0.01 25291 chr6 26104280 26104280 T C rs2229768 H4C3 Synonymous SNV I35I 0.131 0.12 0.129 43 154 46 0.11 38 15 1 6 1 3.934 25292 chr17 37331782 37331782 C T rs116613643 CACNB1 Synonymous SNV R487R 0.022 0.021 0.024 8 26 8 0.021 7 0 0 1 0 Benign 15.54 25293 chr19 2410332 2410332 T C rs3848635 TMPRSS9 Synonymous SNV H364H 0.227 0.279 0.272 92 267 107 0.236 80 28 13 10 11 0.002 25294 chr6 51613177 51613177 C T rs765525 PKHD1 Synonymous SNV A3079A 0.33 0.307 0.344 167 387 118 0.428 101 54 16 18 35 Benign 15.38 25295 chr17 1939892 1939892 C T rs116911386 DPH1 Nonsynonymous SNV T22I 0.023 0.013 0.02 8 27 5 0.021 6 0 0 0 0 Likely benign 12.03 25296 chr17 37334243 37334243 G A rs3744353 CACNB1 Synonymous SNV C380C 0.032 0.026 0.051 28 37 10 0.072 15 1 0 1 1 5.688 25297 chr19 2413961 2413961 G C rs10153475 TMPRSS9 Synonymous SNV S472S 0.23 0.279 0.286 93 270 107 0.238 84 28 13 10 12 4.003 25298 chr6 51720838 51720838 T C rs9349603 PKHD1 Synonymous SNV L2588L 0.312 0.266 0.31 143 366 102 0.367 91 50 14 13 19 Benign 6.87 25299 chr19 2421857 2421857 C T rs72971482 TMPRSS9 Synonymous SNV D686D 0.002 0.008 0.007 4 2 3 0.01 2 0 0 0 0 8.063 25300 chr17 33498439 33498439 C T rs8075756 UNC45B Synonymous SNV L517L 0.025 0.023 0.027 4 29 9 0.01 8 1 0 0 0 16.94 25301 chr19 2433890 2433890 A G rs11084940 LMNB2 Synonymous SNV G472G 0.353 0.396 0.422 147 414 152 0.377 124 72 26 31 31 Likely benign 13.86 25302 chr6 51732807 51732807 C T rs12210295 PKHD1 Synonymous SNV G2529G 0.652 0.688 0.65 237 765 264 0.608 191 242 93 64 62 Benign 11.65 25303 chr17 2865819 2865819 C G rs12947275 LOC101927911 0.057 0.06 0.031 26 67 23 0.067 9 4 0 0 0 5.363 25304 chr19 24346227 24346227 C A rs919812 HAVCR1P1 0 0 0.235 0 0 0 0 69 0 0 5 0 1.501 25305 chr17 33513337 33513337 T A rs11654824 UNC45B Nonsynonymous SNV I771N 0.062 0.057 0.085 20 73 22 0.051 25 4 2 2 0 Benign 34 25306 chr19 24346233 24346233 A G rs919813 HAVCR1P1 0 0 0.238 0 0 0 0 70 0 0 5 0 1.209 25307 chr6 51875250 51875250 A C rs2435322 PKHD1 Nonsynonymous SNV L1870V 0.999 0.997 0.993 389 1173 383 0.997 292 586 191 145 194 Benign 3.304 25308 chr19 2732986 2732986 T C rs759073 SLC39A3 Synonymous SNV V236V 0.503 0.5 0.439 192 590 192 0.492 129 153 49 23 42 0.006 25309 chr17 37855834 37855834 C A rs4252596 ERBB2 Nonsynonymous SNV P8T 0.132 0.182 0.16 50 155 70 0.128 47 15 9 5 5 not provided 18.2 25310 chr19 2733281 2733281 A G rs145122585 SLC39A3 Nonsynonymous SNV M138T 0.012 0.008 0.01 1 14 3 0.003 3 0 0 0 0 9.589 25311 chr17 3352438 3352438 C G rs2291604 SPATA22 Nonsynonymous SNV R69T 0.021 0.013 0.02 5 25 5 0.013 6 0 0 0 0 0.298 25312 chr17 1960450 1960450 - GCC rs1018749792 HIC1 R176_G177insR 0.005 0 0 1 6 0 0.003 0 0 0 0 0 25313 chr6 51890823 51890823 G A rs9296669 PKHD1 Nonsynonymous SNV A1262V 0.498 0.56 0.446 207 585 215 0.531 131 152 65 30 54 Benign 0.16 25314 chr6 26124634 26124634 C T rs4645 H2AC6 Synonymous SNV Y58Y 0.191 0.211 0.194 93 224 81 0.238 57 19 8 7 7 11.57 25315 chr19 2762585 2762585 A C rs2302491 SGTA Synonymous SNV A185A 0.282 0.271 0.241 94 331 104 0.241 71 42 20 8 12 0.066 25316 chr17 37840860 37840860 G C rs35464006 PGAP3 Nonsynonymous SNV A141G 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Benign/Likely benign 22.9 25317 chr17 37884037 37884037 C G rs1058808 ERBB2 Nonsynonymous SNV P1170A 0.694 0.685 0.66 257 815 263 0.659 194 286 90 64 87 not provided 23.7 25318 chr19 282753 282753 G A rs1138439 PLPP2 Nonsynonymous SNV A180V 0.479 0.5 0.514 170 562 192 0.436 151 128 49 33 36 10.86 25319 chr17 33592323 33592323 C G rs113644060 SLFN5 Nonsynonymous SNV P698A 0.018 0.018 0.024 2 21 7 0.005 7 1 0 0 0 0.001 25320 chr6 51914956 51914956 G A rs9370096 PKHD1 Nonsynonymous SNV R760C 0.503 0.568 0.442 205 591 218 0.526 130 154 67 30 53 Benign 18.79 25321 chr19 2834808 2834808 T C rs8102063 ZNF554 Synonymous SNV C525C 0.526 0.505 0.503 194 617 194 0.497 148 165 42 38 48 0.051 25322 chr6 51924774 51924774 A G rs1896976 PKHD1 Synonymous SNV D395D 0.999 0.997 0.993 389 1173 383 0.997 292 586 191 145 194 Benign 3.811 25323 chr19 2853566 2853566 A G rs10412087 ZNF555 Synonymous SNV R500R 0.835 0.862 0.847 328 980 331 0.841 249 403 141 106 136 8.718 25324 chr19 2917186 2917186 T C rs2288959 ZNF57 Synonymous SNV T157T 0.94 0.904 0.905 356 1103 347 0.913 266 518 155 120 162 0.054 25325 chr6 52129484 52129484 C T rs2230240 MCM3 Nonsynonymous SNV E496K 0.322 0.289 0.347 129 378 111 0.331 102 54 16 19 22 15.42 25326 chr19 2917612 2917612 T C rs10410539 ZNF57 Synonymous SNV T299T 0.888 0.849 0.857 336 1042 326 0.862 252 461 139 107 145 0.07 25327 chr19 2934282 2934282 T C rs3746073 ZNF77 Synonymous SNV S281S 0.979 0.961 0.939 376 1149 369 0.964 276 562 177 129 181 8.738 25328 chr19 2934694 2934694 C A rs76396690 ZNF77 Nonsynonymous SNV C144F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 25329 chr6 52268890 52268890 G A rs17591381 PAQR8 Synonymous SNV T293T 0.166 0.151 0.15 74 195 58 0.19 44 11 2 4 7 10.82 25330 chr17 3494361 3494361 G A rs222748 TRPV1 Synonymous SNV H167H 0.066 0.091 0.099 28 77 35 0.072 29 2 3 2 2 0.042 25331 chr19 2936623 2936623 C T rs4807371 ZNF77 Synonymous SNV E70E 0.979 0.961 0.939 376 1149 369 0.964 276 562 177 129 181 5.011 25332 chr17 38137364 38137364 G A rs3087852 PSMD3 Synonymous SNV S47S 0.502 0.448 0.534 201 589 172 0.515 157 201 56 45 71 12.28 25333 chr6 26247055 26247055 T C rs370289402 H4C7 Nonsynonymous SNV I51V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.726 25334 chr17 29855661 29855661 G A rs2074149 RAB11FIP4 Synonymous SNV E246E 0.14 0.096 0.088 61 164 37 0.156 26 10 2 0 4 11.38 25335 chr17 37922259 37922259 G A rs907092 IKZF3 Synonymous SNV S191S 0.371 0.375 0.401 136 436 144 0.349 118 77 21 22 25 13.87 25336 chr19 29704002 29704002 T C rs11666764 UQCRFS1 Synonymous SNV S8S 0.9 0.883 0.854 344 1057 339 0.882 251 483 149 112 154 0.474 25337 chr6 52701143 52701143 C T rs2397118 GSTA5 Nonsynonymous SNV V55I 0.97 0.979 0.976 372 1139 376 0.954 287 553 184 140 178 23.5 25338 chr17 38173143 38173143 G A rs25645 CSF3 Synonymous SNV L146L 0.491 0.492 0.408 176 576 189 0.451 120 131 48 31 42 2.972 25339 chr19 29704010 29704010 A C rs8100724 UQCRFS1 Nonsynonymous SNV S6A 0.899 0.875 0.854 344 1056 336 0.882 251 483 147 112 154 0.002 25340 chr17 38179492 38179492 A G rs2302777 MED24 Synonymous SNV I701I 0.491 0.492 0.459 174 577 189 0.446 135 133 47 31 42 6.514 25341 chr17 38024626 38024626 C T rs11557466 ZPBP2 Synonymous SNV L7L 0.376 0.404 0.357 145 441 155 0.372 105 81 26 21 27 9.616 25342 chr6 53159090 53159090 G T rs2294857 ELOVL5 Synonymous SNV A86A 0.104 0.065 0.058 36 122 25 0.092 17 11 1 1 4 0.286 25343 chr17 3828702 3828702 T C rs887387 ATP2A3 Synonymous SNV R1034R 0.327 0.354 0.367 122 384 136 0.313 108 62 24 17 17 9.888 25344 chr17 38028634 38028634 G T rs11557467 ZPBP2 Nonsynonymous SNV S151I 0.393 0.419 0.425 147 461 161 0.377 125 90 28 23 27 13.51 25345 chr19 2989697 2989697 T C rs6510730 TLE6 Synonymous SNV D263D 0.359 0.318 0.293 118 422 122 0.303 86 79 21 12 12 0.007 25346 chr6 53516876 53516876 T G rs6928338 KLHL31 Synonymous SNV I475I 0.998 0.992 0.997 388 1172 381 0.995 293 585 189 146 193 11.62 25347 chr17 38346903 38346903 C T rs368873031 RAPGEFL1 Synonymous SNV P257P 0.014 0.005 0.003 3 17 2 0.008 1 0 0 0 0 14.53 25348 chr6 26285503 26285503 C T rs41266829 H4C8 Synonymous SNV E75E 0.226 0.26 0.19 89 265 100 0.228 56 28 16 3 15 10.19 25349 chr19 3000655 3000655 C T rs143713547 TLE2 Nonsynonymous SNV S583N 0.022 0.005 0.017 13 26 2 0.033 5 1 0 0 0 24.7 25350 chr6 53519062 53519062 A G rs10948758 KLHL31 Synonymous SNV L337L 0.826 0.831 0.823 312 970 319 0.8 242 401 132 99 123 0.198 25351 chr17 3844787 3844787 C G rs1800912 ATP2A3 Synonymous SNV A569A 0.24 0.258 0.306 94 282 99 0.241 90 26 11 12 9 11.18 25352 chr17 38031674 38031674 C T rs10852935 ZPBP2 Synonymous SNV C270C 0.373 0.404 0.405 143 438 155 0.367 119 82 26 22 27 10.23 25353 chr6 53519605 53519605 C T rs3799260 KLHL31 Nonsynonymous SNV V156I 0.856 0.852 0.888 326 1005 327 0.836 261 430 138 115 134 18.94 25354 chr19 3000663 3000663 G A rs117008739 TLE2 Synonymous SNV Y580Y 0.023 0.01 0.02 13 27 4 0.033 6 1 0 0 0 9.844 25355 chr17 3845927 3845927 A G rs17846889 ATP2A3 Synonymous SNV T506T 0.481 0.513 0.541 178 565 197 0.456 159 129 51 43 36 0.004 25356 chr17 38062196 38062196 G A rs2305480 GSDMB Nonsynonymous SNV P289S 0.371 0.396 0.408 143 436 152 0.367 120 79 25 22 26 0.004 25357 chr19 30193721 30193721 G A rs10424582 C19orf12 Synonymous SNV T44T 0.698 0.682 0.748 277 820 262 0.71 220 289 86 85 98 Benign 10.17 25358 chr17 3846802 3846802 A G rs758641 ATP2A3 Synonymous SNV Y434Y 0.475 0.505 0.537 177 558 194 0.454 158 125 50 44 35 0.162 25359 chr19 30314666 30314666 C T rs7257694 CCNE1 Synonymous SNV S360S 0.313 0.372 0.357 123 367 143 0.315 105 59 32 15 21 11.43 25360 chr6 53519857 53519857 G A rs12210809 KLHL31 Synonymous SNV L72L 0.674 0.677 0.636 254 791 260 0.651 187 265 86 61 84 0.18 25361 chr17 3848013 3848013 A C rs1800911 ATP2A3 Synonymous SNV A424A 0.477 0.505 0.541 173 560 194 0.444 159 125 50 44 35 3.277 25362 chr17 38062217 38062217 C T rs2305479 GSDMB Nonsynonymous SNV G282R 0.389 0.409 0.422 145 457 157 0.372 124 88 27 22 26 23.1 25363 chr6 53762092 53762092 A G rs9349688 LRRC1 Nonsynonymous SNV I193V 0.115 0.115 0.112 57 135 44 0.146 33 10 4 5 4 22.9 25364 chr19 30500119 30500121 TGA - rs3840928 URI1 D293del 0.856 0.849 0.833 308 1005 326 0.79 245 439 140 101 124 25365 chr6 26501994 26501994 G C BTN1A1 Nonsynonymous SNV E86Q 0 0 0 2 0 0 0.005 0 0 0 0 0 18.42 25366 chr19 3062857 3062857 T C rs11539938 TLE5 Synonymous SNV L23L 0.336 0.346 0.33 135 394 133 0.346 97 69 28 19 18 0.302 25367 chr17 38064469 38064469 T C rs11078928 GSDMB 0.371 0.393 0.405 143 436 151 0.367 119 80 25 22 26 0.038 25368 chr19 31038995 31038995 T C rs1469705 ZNF536 Synonymous SNV D823D 0.25 0.24 0.224 79 294 92 0.203 66 36 11 7 7 0.001 25369 chr17 38559269 38559269 T A rs61756342 TOP2A Nonsynonymous SNV N774I 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Likely benign 34 25370 chr6 53989526 53989526 G A rs4712056 MLIP Nonsynonymous SNV V159I 0.67 0.682 0.626 251 787 262 0.644 184 258 94 58 79 0.002 25371 chr19 3150238 3150238 A G rs310680 GNA15 Nonsynonymous SNV Y147C 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.239 25372 chr17 38100633 38100633 C T rs74717022 LRRC3C Synonymous SNV S158S 0.075 0.047 0.065 24 88 18 0.062 19 1 0 0 0 16.14 25373 chr6 54054686 54054686 T A rs6934690 MLIP Nonsynonymous SNV S320T 0.876 0.872 0.878 331 1029 335 0.849 258 454 150 116 138 23.1 25374 chr17 38600092 38600092 G A rs598892 IGFBP4 Synonymous SNV L35L 0.29 0.286 0.276 116 341 110 0.297 81 87 33 17 33 12.27 25375 chr19 3155902 3155902 G A rs2074865 GNA15 Synonymous SNV L232L 0.121 0.141 0.116 38 142 54 0.097 34 9 4 3 1 8.437 25376 chr17 38855772 38855772 T C rs2462961 KRT24 Nonsynonymous SNV K429E 0.528 0.539 0.51 186 620 207 0.477 150 163 57 40 38 0.023 25377 chr19 31770009 31770009 C T rs28609894 TSHZ3 Synonymous SNV T230T 0.323 0.339 0.306 139 379 130 0.356 90 58 23 13 26 11.5 25378 chr17 20209365 20209365 G A rs139428957 SPECC1 Synonymous SNV A948A 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 12.91 25379 chr6 54079968 54079968 G A rs11757700 MLIP Nonsynonymous SNV G906R 0.768 0.766 0.738 295 902 294 0.756 217 346 114 86 110 0.432 25380 chr19 3186085 3186085 G T rs11551095 NCLN Synonymous SNV P19P 0.566 0.583 0.554 223 665 224 0.572 163 179 68 43 60 9.275 25381 chr17 38122686 38122686 G A rs7212944 GSDMA Nonsynonymous SNV E130K 0.377 0.409 0.388 147 443 157 0.377 114 83 29 22 28 22.9 25382 chr17 38857446 38857446 C A rs874889 KRT24 Nonsynonymous SNV M267I 0.509 0.523 0.49 181 598 201 0.464 144 151 53 37 37 12.32 25383 chr19 32083696 32083696 T C rs7245697 THEG5 Synonymous SNV T66T 0.975 0.984 0.973 372 1145 378 0.954 286 559 186 140 177 0.004 25384 chr19 3224896 3224896 G C rs17852497 CELF5 Synonymous SNV P53P 0.141 0.159 0.184 61 166 61 0.156 54 8 7 6 7 9.317 25385 chr6 54219326 54219326 G A rs3195579 TINAG Nonsynonymous SNV R381H 0.147 0.117 0.095 61 172 45 0.156 28 15 2 3 2 14.8 25386 chr17 33880305 33880305 T C rs79007502 SLFN14 Nonsynonymous SNV K450E 0.048 0.039 0.041 18 56 15 0.046 12 1 0 0 0 0.363 25387 chr19 3281298 3281298 G A rs36030381 CELF5 Synonymous SNV P235P 0.083 0.086 0.082 30 98 33 0.077 24 2 0 0 2 13 25388 chr17 38858135 38858135 A - rs11309872 KRT24 N222Kfs*11 0.503 0.521 0.49 181 591 200 0.464 144 151 53 37 37 25389 chr19 32873698 32873698 A G rs2270399 ZNF507 Synonymous SNV S857S 0.888 0.875 0.884 334 1043 336 0.856 260 463 148 114 143 0.051 25390 chr17 33880455 33880455 C G rs78192414 SLFN14 Nonsynonymous SNV E400Q 0.014 0.018 0.031 9 17 7 0.023 9 0 0 1 0 9.024 25391 chr19 32930069 32930069 G A rs6510249 DPY19L3 Synonymous SNV A216A 0.608 0.563 0.639 233 714 216 0.597 188 215 61 56 69 11.29 25392 chr19 33096786 33096786 G A rs7247420 ANKRD27 Synonymous SNV Y816Y 0.204 0.201 0.156 76 239 77 0.195 46 32 13 4 7 1.152 25393 chr6 54735122 54735122 A G rs1472679 FAM83B Synonymous SNV E26E 0.451 0.438 0.49 185 529 168 0.474 144 116 38 35 43 6.143 25394 chr19 33096816 33096816 C T rs7248273 ANKRD27 Synonymous SNV K806K 0.204 0.201 0.156 76 240 77 0.195 46 32 13 4 7 15.75 25395 chr17 38146154 38146154 T C rs9916279 PSMD3 Synonymous SNV N283N 0.145 0.148 0.156 68 170 57 0.174 46 15 4 2 9 6.749 25396 chr19 33106621 33106621 C T rs405858 ANKRD27 Synonymous SNV A706A 0.712 0.674 0.68 263 836 259 0.674 200 313 86 69 90 10.85 25397 chr6 54735344 54735344 A G rs16886105 FAM83B Synonymous SNV E100E 0.104 0.117 0.078 36 122 45 0.092 23 4 1 0 0 0.408 25398 chr19 33167455 33167455 G T rs259290 RGS9BP Nonsynonymous SNV A96S 0.593 0.536 0.619 227 696 206 0.582 182 229 58 59 72 Benign 15.23 25399 chr17 38955173 38955173 G A rs7222207 KRT28 Synonymous SNV L177L 0.157 0.172 0.146 65 184 66 0.167 43 28 7 2 13 9.411 25400 chr6 28198122 28198122 C T rs76542212 ZSCAN9 Stop gain R193X 0.066 0.034 0.071 29 78 13 0.074 21 5 0 0 1 23.4 25401 chr6 54805688 54805688 A C rs239798 FAM83B Nonsynonymous SNV K640T 0.205 0.245 0.18 69 241 94 0.177 53 22 11 4 6 0.417 25402 chr17 38175866 38175866 G A rs11555254 MED24 Synonymous SNV S949S 0.141 0.141 0.139 67 166 54 0.172 41 14 4 1 8 13.42 25403 chr19 33183291 33183291 G A rs8108621 NUDT19 Nonsynonymous SNV R142Q 0.123 0.12 0.16 48 144 46 0.123 47 5 5 5 2 21.4 25404 chr6 54806489 54806489 C A rs9475077 FAM83B Nonsynonymous SNV T907N 0.205 0.245 0.187 69 241 94 0.177 55 22 11 4 6 13.67 25405 chr17 38186106 38186106 C T rs11555255 MED24 Synonymous SNV A374A 0.137 0.138 0.139 66 161 53 0.169 41 13 4 1 8 11.83 25406 chr6 32520729 32520729 G A rs66758173 HLA-DRB6 0.181 0.146 0.146 71 213 56 0.182 43 103 25 21 33 3.872 25407 chr19 33183316 33183316 A G rs8109823 NUDT19 Synonymous SNV P150P 0.123 0.12 0.16 48 144 46 0.123 47 5 5 5 2 0.92 25408 chr6 32520731 32520731 G C rs57658648 HLA-DRB6 0.069 0.078 0.078 33 81 30 0.085 23 38 14 11 15 1.539 25409 chr17 38346708 38346708 T C rs55696782 RAPGEFL1 Synonymous SNV T228T 0.018 0.023 0.037 11 21 9 0.028 11 0 0 0 0 6.5 25410 chr6 55142337 55142337 A G rs2653349 HCRTR2 Nonsynonymous SNV I308V 0.845 0.878 0.85 332 992 337 0.851 250 418 145 107 137 11.88 25411 chr19 33183352 33183352 G C rs61732600 NUDT19 Synonymous SNV P162P 0.342 0.286 0.33 125 401 110 0.321 97 63 15 16 20 8.804 25412 chr6 32520785 32520785 T G rs61615404 HLA-DRB6 0.235 0.229 0.238 85 276 88 0.218 70 130 40 34 39 2.148 25413 chr19 33281924 33281924 A G rs11881633 TDRD12 Nonsynonymous SNV K413E 0.606 0.57 0.585 217 711 219 0.556 172 214 67 50 62 10.35 25414 chr17 38457151 38457151 G A rs13706 CDC6 Nonsynonymous SNV V441I 0.135 0.133 0.153 51 159 51 0.131 45 8 2 2 3 Benign 23.6 25415 chr17 38978462 38978462 C T rs77919366 KRT10 Nonsynonymous SNV G126S 0.218 0.25 0.143 88 256 96 0.226 42 29 8 2 13 not provided 17.83 25416 chr6 32520816 32520816 G C rs58495148 HLA-DRB6 0.237 0.229 0.265 85 278 88 0.218 78 131 40 38 39 1.702 25417 chr6 32522650 32522650 T C rs35455030 HLA-DRB6 0.239 0.229 0.282 85 280 88 0.218 83 132 40 40 39 2.959 25418 chr6 55266625 55266625 T C rs9370418 GFRAL Nonsynonymous SNV S387P 0.693 0.69 0.69 285 814 265 0.731 203 288 92 74 102 0.015 25419 chr17 32906373 32906373 G T rs56322375 C17orf102 0.064 0.052 0.122 27 75 20 0.069 36 16 5 10 6 8.745 25420 chr6 32609813 32609813 T C rs707951 HLA-DQA1 Synonymous SNV I132I 0.145 0.128 0.116 66 170 49 0.169 34 77 22 13 31 0.314 25421 chr19 33293948 33293948 G A rs35110475 TDRD12 Nonsynonymous SNV A818T 0.163 0.143 0.143 68 191 55 0.174 42 13 3 3 6 12.72 25422 chr17 36485605 36485605 G A rs150125328 GPR179 Nonsynonymous SNV P1283S 0.008 0.008 0.014 0 9 3 0 4 0 0 0 0 Likely benign 3.241 25423 chr6 55739553 55739553 A G rs3734444 BMP5 Synonymous SNV S37S 0.494 0.495 0.5 192 580 190 0.492 147 142 49 38 50 0.025 25424 chr6 32629129 32629129 T C rs1130432 HLA-DQB1 Nonsynonymous SNV Q256R 0.375 0.385 0.429 143 440 148 0.367 126 202 65 60 64 17.85 25425 chr19 33302185 33302185 C T rs139796709 TDRD12 Synonymous SNV I969I 0.013 0.016 0.017 2 15 6 0.005 5 0 0 0 0 9.483 25426 chr6 56044578 56044578 T C rs2038149 COL21A1 Synonymous SNV K146K 0.567 0.596 0.585 219 666 229 0.562 172 182 67 53 59 8.888 25427 chr19 33333155 33333155 G A rs2287881 SLC7A9 Synonymous SNV A381A 0.181 0.188 0.211 67 213 72 0.172 62 20 9 7 5 Benign 6.202 25428 chr6 32629155 32629155 C A rs1130431 HLA-DQB1 Synonymous SNV L247L 0.376 0.385 0.435 143 442 148 0.367 128 203 65 61 64 10.39 25429 chr6 56376091 56376091 C T rs41271864 DST Synonymous SNV E3605E 0.072 0.096 0.048 36 84 37 0.092 14 3 1 0 2 14.98 25430 chr17 3654980 3654980 A G rs11652878 ITGAE Synonymous SNV N619N 0.118 0.107 0.099 45 139 41 0.115 29 13 3 2 4 0.027 25431 chr19 33353041 33353041 G A rs1007161 SLC7A9 Synonymous SNV L229L 0.362 0.339 0.401 122 425 130 0.313 118 72 24 22 17 Benign 10.36 25432 chr6 32629847 32629847 A G rs1049133 HLA-DQB1 Synonymous SNV T186T 0.377 0.391 0.435 144 443 150 0.369 128 205 67 61 65 0.005 25433 chr6 56380461 56380461 T C DST Synonymous SNV K3498K 0 0 0 0 0 0 0 0 0 0 0 0 8.321 25434 chr19 33353061 33353061 G T rs1007160 SLC7A9 Nonsynonymous SNV L223M 0.364 0.339 0.401 122 427 130 0.313 118 73 24 22 17 Benign 21.6 25435 chr6 56417282 56417282 C T rs4715630 DST Nonsynonymous SNV M2813I 0.629 0.599 0.69 243 739 230 0.623 203 244 64 70 72 Benign 6.176 25436 chr17 3867571 3867571 A G rs887384 ATP2A3 Synonymous SNV H5H 0.106 0.109 0.075 40 125 42 0.103 22 15 10 6 8 1.447 25437 chr6 32629859 32629859 A G rs1049130 HLA-DQB1 Synonymous SNV N182N 0.377 0.391 0.435 144 443 150 0.369 128 205 67 61 65 0.016 25438 chr17 38854569 38854569 T G rs755326985 KRT24 Nonsynonymous SNV K500Q 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 25.3 25439 chr19 33353464 33353464 G A rs11084673 SLC7A9 Synonymous SNV S169S 0.373 0.354 0.405 128 438 136 0.328 119 76 25 22 19 Benign 13.2 25440 chr6 32629868 32629868 A G rs1049088 HLA-DQB1 Synonymous SNV L179L 0.376 0.391 0.435 143 442 150 0.367 128 204 67 61 64 0.012 25441 chr6 56417545 56417545 T C rs4715631 DST Nonsynonymous SNV T2726A 0.621 0.591 0.68 239 729 227 0.613 200 239 62 67 72 Benign 0.013 25442 chr19 33355055 33355055 A G rs12150889 SLC7A9 Nonsynonymous SNV V142A 0.384 0.359 0.408 133 451 138 0.341 120 80 26 22 21 Benign 0.039 25443 chr17 39021124 39021124 G A rs61735166 KRT12 Synonymous SNV T247T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 10.14 25444 chr6 32629931 32629931 C G rs41542812 HLA-DQB1 Nonsynonymous SNV Q158H 0.089 0.089 0.092 32 104 34 0.082 27 41 14 12 14 0.046 25445 chr17 39023396 39023396 G A rs11650915 KRT12 Nonsynonymous SNV P15S 0.353 0.305 0.367 128 415 117 0.328 108 80 16 16 18 not provided 0.001 25446 chr17 3661052 3661052 G A rs71366574 ITGAE Nonsynonymous SNV T323M 0.051 0.042 0.044 14 60 16 0.036 13 2 1 0 0 22.8 25447 chr6 56420538 56420538 C T rs11756977 DST Nonsynonymous SNV R2291H 0.38 0.406 0.316 150 446 156 0.385 93 97 26 14 28 23.6 25448 chr19 33355081 33355081 G A rs35170371 SLC7A9 Synonymous SNV S133S 0.177 0.188 0.218 65 208 72 0.167 64 16 8 7 8 Benign 9.54 25449 chr17 38911363 38911363 G A rs12951399 KRT25 Nonsynonymous SNV S54L 0.368 0.37 0.374 135 432 142 0.346 110 86 24 18 20 1.178 25450 chr6 32629936 32629936 C T rs1049107 HLA-DQB1 Nonsynonymous SNV G157S 0.371 0.385 0.432 140 436 148 0.359 127 198 65 60 61 10.09 25451 chr19 33390796 33390796 G A rs10418340 CEP89 Synonymous SNV N614N 0.803 0.836 0.81 324 943 321 0.831 238 374 133 93 132 0.632 25452 chr17 39081713 39081713 A G rs8037 KRT23 Synonymous SNV H208H 0.463 0.44 0.446 177 543 169 0.454 131 124 36 24 34 0.006 25453 chr19 33414420 33414420 A G rs4805825 CEP89 Nonsynonymous SNV V398A 0.21 0.206 0.207 100 247 79 0.256 61 27 8 5 13 20.4 25454 chr6 56463410 56463410 T C rs4712138 DST Nonsynonymous SNV Q1308R 0.447 0.456 0.384 179 525 175 0.459 113 124 32 21 39 Benign 0.017 25455 chr6 32629963 32629963 C T rs1049100 HLA-DQB1 Nonsynonymous SNV V148I 0.371 0.385 0.432 140 436 148 0.359 127 198 65 60 61 19.31 25456 chr17 39084504 39084504 T C rs9257 KRT23 Nonsynonymous SNV T166A 0.464 0.438 0.442 177 545 168 0.454 130 125 35 24 34 8.38 25457 chr19 33467515 33467515 T C rs3816032 FAAP24 Nonsynonymous SNV I97T 0.179 0.177 0.16 73 210 68 0.187 47 23 10 3 9 2.308 25458 chr6 56482801 56482801 C G rs6459166 DST Nonsynonymous SNV V2011L 0.455 0.461 0.391 187 534 177 0.479 115 127 34 21 42 Benign 15.46 25459 chr17 38936659 38936659 C T rs17558560 KRT27 Nonsynonymous SNV G193S 0.376 0.378 0.401 133 441 145 0.341 118 87 26 23 18 22.9 25460 chr6 32632587 32632587 A G rs1130397 HLA-DQB1 Synonymous SNV L123L 0.469 0.474 0.52 164 551 182 0.421 153 260 83 72 74 0.378 25461 chr19 33579128 33579128 T C rs7259333 GPATCH1 Synonymous SNV S54S 0.287 0.336 0.361 94 337 129 0.241 106 56 25 20 10 4.505 25462 chr17 3916823 3916823 G A rs8075562 ZZEF1 Synonymous SNV G2833G 0.207 0.227 0.252 88 243 87 0.226 74 25 12 7 11 14.98 25463 chr17 33460499 33460499 G A rs147757651 NLE1 Synonymous SNV R119R 0.003 0.01 0 0 3 4 0 0 0 0 0 0 14.33 25464 chr6 56484758 56484758 C T rs2230862 DST Synonymous SNV K1358K 0.402 0.435 0.364 174 472 167 0.446 107 95 29 14 39 Benign 6.405 25465 chr19 33600764 33600764 T C rs2287679 GPATCH1 Nonsynonymous SNV L476P 0.292 0.339 0.371 95 343 130 0.244 109 57 25 21 11 4.442 25466 chr17 38975308 38975319 GCCGCCGTGGCC - rs778613907 KRT10 G490_G493del 0.262 0.208 0.224 92 308 80 0.236 66 58 11 12 8 25467 chr6 32632598 32632598 A T rs17412833 HLA-DQB1 Nonsynonymous SNV F119Y 0.469 0.474 0.52 164 551 182 0.421 153 260 83 72 74 0.105 25468 chr17 36873149 36873149 C T rs9892493 MLLT6 Synonymous SNV S522S 0.09 0.091 0.085 36 106 35 0.092 25 3 3 1 4 15.71 25469 chr6 56917538 56917538 G A rs6926980 KIAA1586 Nonsynonymous SNV V54M 0.197 0.167 0.201 57 231 64 0.146 59 34 5 6 7 17.19 25470 chr17 39296152 39296152 A G rs551614044 KRTAP4-6 Synonymous SNV R196R 0.237 0.255 0.061 90 278 98 0.231 18 0 0 0 0 0.073 25471 chr19 33602757 33602757 C T rs10420258 GPATCH1 Synonymous SNV H571H 0.143 0.164 0.187 41 168 63 0.105 55 15 5 4 3 14.64 25472 chr19 33605300 33605300 A G rs10416265 GPATCH1 Nonsynonymous SNV H724R 0.284 0.339 0.378 92 334 130 0.236 111 58 26 20 11 0.001 25473 chr17 39296158 39296158 G A rs745817788 KRTAP4-6 Synonymous SNV C194C 0.295 0.333 0.119 119 346 128 0.305 35 0 0 0 0 2.06 25474 chr17 39296167 39296167 A G rs773343562 KRTAP4-6 Synonymous SNV I191I 0.355 0.372 0.194 141 417 143 0.362 57 0 0 0 0 0.138 25475 chr6 32632627 32632627 C T rs1130389 HLA-DQB1 Synonymous SNV T109T 0.21 0.229 0.238 90 246 88 0.231 70 105 38 31 38 15.45 25476 chr6 56919443 56919443 A G rs61740375 KIAA1586 Nonsynonymous SNV I689V 0.042 0.029 0.037 14 49 11 0.036 11 3 0 0 0 2.444 25477 chr6 32632628 32632628 G C rs1130392 HLA-DQB1 Nonsynonymous SNV T109R 0.371 0.385 0.432 140 436 148 0.359 127 198 65 60 61 13.17 25478 chr19 33605312 33605312 T C rs10421769 GPATCH1 Nonsynonymous SNV L728S 0.442 0.479 0.507 166 519 184 0.426 149 118 48 36 41 6.251 25479 chr6 32632635 32632635 A C rs9274384 HLA-DQB1 Nonsynonymous SNV L107V 0.371 0.385 0.432 139 436 148 0.356 127 198 65 60 61 0.001 25480 chr19 33608733 33608733 C A rs2287681 GPATCH1 Synonymous SNV T733T 0.304 0.313 0.32 116 357 120 0.297 94 47 20 12 19 3.732 25481 chr6 56965696 56965696 C G rs3800023 ZNF451 Nonsynonymous SNV S161C 0.159 0.141 0.173 43 187 54 0.11 51 26 4 4 3 11.71 25482 chr17 20907532 20907532 G A rs748283211 USP22 Synonymous SNV D506D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.17 25483 chr19 33635761 33635761 C T rs3848596 WDR88 Synonymous SNV D133D 0.359 0.391 0.429 120 421 150 0.308 126 81 34 23 18 11.6 25484 chr17 35536312 35536312 T C rs146371757 ACACA Synonymous SNV Q1561Q 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 0.078 25485 chr6 57012930 57012930 C T rs3734738 ZNF451 Synonymous SNV L683L 0.198 0.169 0.211 57 233 65 0.146 62 34 5 6 7 9.368 25486 chr19 33655144 33655144 C T rs1981827 WDR88 Synonymous SNV N374N 0.164 0.208 0.167 64 193 80 0.164 49 14 6 2 5 10.21 25487 chr6 32632637 32632637 T G rs1130387 HLA-DQB1 Nonsynonymous SNV E106A 0.371 0.385 0.432 139 436 148 0.356 127 198 65 60 61 0.021 25488 chr6 57055354 57055354 C T rs1040461 RAB23 Nonsynonymous SNV G207S 0.042 0.029 0.037 14 49 11 0.036 11 3 0 0 0 Likely benign 17.61 25489 chr17 39296422 39296422 A G rs766574729 KRTAP4-6 Synonymous SNV R106R 0.276 0.294 0.136 116 324 113 0.297 40 0 0 0 0 0.298 25490 chr19 33696350 33696350 C T rs201590022 LRP3 Nonsynonymous SNV T225M 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 24.6 25491 chr6 32632638 32632638 C A rs1130385 HLA-DQB1 Stop gain E106X 0.371 0.385 0.432 139 436 148 0.356 127 198 65 60 61 31 25492 chr6 57512788 57512788 - TA rs376103961 PRIM2 0.497 0.5 0.405 193 583 192 0.495 119 0 0 0 0 25493 chr17 39296423 39296423 C T rs349790 KRTAP4-6 Nonsynonymous SNV R106H 0.051 0.042 0.01 19 60 16 0.049 3 0 0 0 0 6.275 25494 chr6 57512794 57512796 ATT - rs368894562 PRIM2 0.5 0.5 0.374 195 587 192 0.5 110 0 0 0 0 25495 chr19 33696708 33696708 T C rs2112800 LRP3 Synonymous SNV T344T 0.813 0.784 0.782 315 955 301 0.808 230 382 118 91 128 0.002 25496 chr6 62390916 62390916 T C rs1204114 KHDRBS2 Synonymous SNV Q334Q 0.697 0.698 0.656 279 818 268 0.715 193 286 88 62 101 0.002 25497 chr17 37296025 37296025 C T rs114297422 PLXDC1 Nonsynonymous SNV R46Q 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 23 25498 chr6 32632647 32632647 T C rs1130390 HLA-DQB1 Nonsynonymous SNV T103A 0.371 0.385 0.429 138 436 148 0.354 126 198 65 59 61 0.002 25499 chr19 33696897 33696897 C T rs11084712 LRP3 Synonymous SNV G407G 0.187 0.208 0.248 79 219 80 0.203 73 23 6 10 6 10.36 25500 chr6 62442604 62442604 A G rs10484690 KHDRBS2 Synonymous SNV Y292Y 0.302 0.305 0.34 110 354 117 0.282 100 52 13 16 17 4.039 25501 chr19 33698291 33698291 T C rs3745974 LRP3 Nonsynonymous SNV V708A 0.899 0.885 0.85 341 1056 340 0.874 250 475 152 107 148 3.155 25502 chr6 62887099 62887099 C T rs6921170 KHDRBS2 Synonymous SNV Q70Q 0.629 0.617 0.527 249 738 237 0.638 155 236 78 50 82 6.688 25503 chr6 32632687 32632687 A G rs1140314 HLA-DQB1 Synonymous SNV D89D 0.254 0.258 0.272 100 298 99 0.256 80 131 44 37 46 0.293 25504 chr17 39296431 39296431 A G rs758995461 KRTAP4-6 Synonymous SNV T103T 0.216 0.214 0.092 95 253 82 0.244 27 0 0 0 0 0.174 25505 chr19 33698448 33698448 G A rs3745973 LRP3 Synonymous SNV E760E 0.048 0.057 0.068 30 56 22 0.077 20 0 2 1 1 13.76 25506 chr6 63989979 63989979 C G rs745357482 LGSN Nonsynonymous SNV E493Q 0 0 0 0 0 0 0 0 0 0 0 0 23.2 25507 chr6 32632688 32632688 T C rs1071637 HLA-DQB1 Nonsynonymous SNV D89G 0.086 0.089 0.088 31 101 34 0.079 26 41 14 12 14 0.002 25508 chr17 39305760 39305760 C T rs427961 KRTAP4-5 Nonsynonymous SNV R87K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.002 25509 chr17 39092756 39092756 C T rs2269859 KRT23 Nonsynonymous SNV V34I 0.02 0.013 0.02 9 23 5 0.023 6 0 0 0 0 12.68 25510 chr19 33878837 33878837 G A rs17570 PEPD Nonsynonymous SNV L394F 0.212 0.208 0.224 82 249 80 0.21 66 27 8 6 9 Benign 12.88 25511 chr6 64694354 64694354 C T rs4710457 EYS Nonsynonymous SNV R2326Q 0.415 0.422 0.381 154 487 162 0.395 112 103 37 23 33 Benign 13.59 25512 chr6 32632689 32632689 C T rs41552812 HLA-DQB1 Nonsynonymous SNV D89N 0.087 0.089 0.092 31 102 34 0.079 27 41 14 12 14 0.345 25513 chr19 3456580 3456580 C G rs376511703 NFIC Nonsynonymous SNV R486G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 30 25514 chr17 37821645 37821647 GGA - rs397516862 TCAP E13del 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 25515 chr17 39305761 39305761 T G rs451718 KRTAP4-5 Synonymous SNV R87R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.404 25516 chr17 39134455 39134455 G A rs2271277 KRT40 Synonymous SNV C430C 0.399 0.365 0.398 154 469 140 0.395 117 93 34 21 29 1.432 25517 chr6 65149185 65149185 T A rs9353806 EYS Nonsynonymous SNV N1902I 0.319 0.292 0.296 131 374 112 0.336 87 64 18 13 26 Benign 22.1 25518 chr6 32632714 32632714 G C rs3210148 HLA-DQB1 Synonymous SNV R80R 0.512 0.495 0.551 173 601 190 0.444 162 293 90 77 84 7.481 25519 chr19 34842488 34842488 T C rs392340 KIAA0355 Synonymous SNV D965D 0.368 0.38 0.344 145 432 146 0.372 101 77 19 17 25 0.02 25520 chr17 39135205 39135205 A G rs8064910 KRT40 Synonymous SNV C349C 0.603 0.609 0.602 236 708 234 0.605 177 212 77 53 74 4.193 25521 chr19 34843761 34843761 C A rs397414 KIAA0355 Synonymous SNV P1038P 0.382 0.406 0.35 148 448 156 0.379 103 91 28 19 29 10.8 25522 chr6 32632745 32632745 G A rs1063318 HLA-DQB1 Nonsynonymous SNV A70V 0.368 0.375 0.412 132 432 144 0.338 121 206 67 58 63 0.002 25523 chr19 34872382 34872382 G A rs1864139 GPI Synonymous SNV K226K 0.102 0.128 0.102 44 120 49 0.113 30 7 1 5 1 Benign 14.45 25524 chr17 39137297 39137297 C T rs721957 KRT40 Nonsynonymous SNV C265Y 0.604 0.604 0.595 233 709 232 0.597 175 212 77 52 72 15.76 25525 chr6 65301504 65301504 A G rs624851 EYS Nonsynonymous SNV L1419S 0.638 0.638 0.643 259 749 245 0.664 189 241 84 59 84 Benign 0.002 25526 chr17 39305769 39305769 G C rs151111061 KRTAP4-5 Nonsynonymous SNV T84S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.001 25527 chr17 2275734 2275734 C G rs3213712 SGSM2 Synonymous SNV S535S 0.136 0.109 0.126 54 160 42 0.138 37 11 2 2 4 5.193 25528 chr19 34973413 34973413 T C rs1465433 WTIP Synonymous SNV A178A 0.627 0.484 0.463 261 736 186 0.669 136 368 93 68 130 0.066 25529 chr17 2298497 2298497 C T rs7207965 MNT Nonsynonymous SNV A109T 0.037 0.031 0.041 12 43 12 0.031 12 0 0 0 0 5.25 25530 chr6 32632770 32632770 A G rs281862065 HLA-DQB1 Nonsynonymous SNV Y62H 0.387 0.339 0.361 153 454 130 0.392 106 219 63 50 72 0.338 25531 chr19 35422808 35422808 C T rs10422961 ZNF30 Nonsynonymous SNV S24F 0.325 0.349 0.32 128 381 134 0.328 94 68 25 13 20 27.1 25532 chr17 39139348 39139348 A G rs16968859 KRT40 Synonymous SNV L160L 0.078 0.109 0.109 34 91 42 0.087 32 3 2 1 1 8.793 25533 chr17 39305773 39305773 T G rs201152898 KRTAP4-5 Nonsynonymous SNV T83P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.002 25534 chr6 66112409 66112409 A G rs974110 EYS Synonymous SNV N382N 0.514 0.516 0.422 197 603 198 0.505 124 165 54 37 46 Benign 0.018 25535 chr17 39140272 39140272 A G rs17843015 KRT40 Nonsynonymous SNV F85S 0.088 0.109 0.109 34 103 42 0.087 32 3 2 1 1 25.9 25536 chr6 32634302 32634302 A G rs1049062 HLA-DQB1 Nonsynonymous SNV L28P 0.376 0.391 0.435 144 441 150 0.369 128 204 67 61 65 0.023 25537 chr6 66204945 66204945 G A rs12193967 EYS Nonsynonymous SNV T120M 0.203 0.177 0.153 86 238 68 0.221 45 30 5 3 7 Benign 22.8 25538 chr19 35434238 35434238 A G rs1811 ZNF30 Nonsynonymous SNV Q124R 0.55 0.56 0.507 219 646 215 0.562 149 177 59 36 66 0.045 25539 chr17 2298615 2298615 T C rs7213000 MNT Synonymous SNV P69P 0.124 0.096 0.133 39 146 37 0.1 39 5 2 1 0 0.005 25540 chr17 39305774 39305774 C G rs137947981 KRTAP4-5 Nonsynonymous SNV Q82H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.352 25541 chr6 32634303 32634303 G A rs1049061 HLA-DQB1 Synonymous SNV L28L 0.376 0.391 0.435 144 441 150 0.369 128 204 67 61 65 5.827 25542 chr19 35434512 35434512 T C rs2651109 ZNF30 Synonymous SNV S215S 0.551 0.557 0.514 220 647 214 0.564 151 178 58 37 66 0.22 25543 chr6 69666684 69666684 A G rs1932618 ADGRB3 Nonsynonymous SNV N503S 0.827 0.844 0.837 319 971 324 0.818 246 397 135 105 128 12.86 25544 chr19 35435006 35435006 G A rs1345658 ZNF30 Nonsynonymous SNV R380K 0.55 0.557 0.514 219 646 214 0.562 151 177 58 37 65 0.434 25545 chr6 32634313 32634313 C G rs1049059 HLA-DQB1 Nonsynonymous SNV M24I 0.376 0.391 0.435 144 442 150 0.369 128 204 67 61 65 18.98 25546 chr6 70064187 70064187 G A rs2296974 ADGRB3 Synonymous SNV S1174S 0.2 0.221 0.265 77 235 85 0.197 78 24 11 13 7 2.849 25547 chr17 39305775 39305775 T C rs141265645 KRTAP4-5 Nonsynonymous SNV Q82R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 25548 chr19 35449409 35449409 G A rs2651081 ZNF792 Synonymous SNV H450H 0.325 0.333 0.32 125 381 128 0.321 94 64 26 13 19 1.831 25549 chr6 70854818 70854818 G A rs34837646 COL19A1 Synonymous SNV P563P 0.104 0.094 0.129 40 122 36 0.103 38 7 2 2 1 11.33 25550 chr6 32634369 32634369 C A rs1049056 HLA-DQB1 Nonsynonymous SNV A6S 0.378 0.391 0.435 144 444 150 0.369 128 205 67 61 65 9.35 25551 chr19 35449486 35449486 T C rs34687332 ZNF792 Nonsynonymous SNV N425D 0.066 0.081 0.085 30 77 31 0.077 25 3 3 2 1 14.27 25552 chr6 70866609 70866609 C T rs2229799 COL19A1 Synonymous SNV G762G 0.52 0.508 0.524 196 611 195 0.503 154 167 53 37 53 17.63 25553 chr17 39305820 39305820 C T rs238830 KRTAP4-5 Nonsynonymous SNV R67H 0.077 0.044 0.041 28 90 17 0.072 12 1 0 0 1 18.06 25554 chr6 70916888 70916888 A C rs1200576 COL19A1 Synonymous SNV P1113P 0.767 0.729 0.748 312 901 280 0.8 220 347 106 80 124 0.31 25555 chr6 33636907 33636907 C T rs2077163 ITPR3 Synonymous SNV H721H 0.54 0.508 0.517 210 634 195 0.538 152 171 58 35 58 16.27 25556 chr19 35449760 35449760 G C rs2651080 ZNF792 Synonymous SNV T333T 0.325 0.333 0.32 126 381 128 0.323 94 64 26 13 19 8.778 25557 chr6 70961833 70961833 T C rs1135056 COL9A1 Nonsynonymous SNV Q378R 0.407 0.401 0.347 154 478 154 0.395 102 104 30 18 29 Benign 1.269 25558 chr19 35450229 35450229 C T rs2651079 ZNF792 Nonsynonymous SNV R177Q 0.551 0.56 0.51 219 647 215 0.562 150 178 59 36 65 1.126 25559 chr6 33638180 33638180 C T rs2229634 ITPR3 Synonymous SNV G756G 0.241 0.227 0.259 106 283 87 0.272 76 33 12 7 14 15.29 25560 chr19 35487125 35487125 G A rs67018685 GRAMD1A Nonsynonymous SNV A67T 0.27 0.279 0.224 103 317 107 0.264 66 42 16 8 13 10.79 25561 chr6 33641379 33641379 T C rs1803831 ITPR3 Synonymous SNV N980N 0.543 0.508 0.514 209 637 195 0.536 151 171 58 35 57 0.529 25562 chr6 70984436 70984436 A G rs592121 COL9A1 Nonsynonymous SNV S96P 0.4 0.427 0.333 152 470 164 0.39 98 99 42 14 25 Benign 15.04 25563 chr19 35506729 35506729 G A rs2290647 GRAMD1A, GRAMD1A Synonymous SNV A350A 0.433 0.398 0.398 155 508 153 0.397 117 114 34 32 24 8.444 25564 chr19 35510102 35510102 G C rs2290646 GRAMD1A Synonymous SNV T400T 0.448 0.414 0.473 165 526 159 0.423 139 121 36 36 28 8.322 25565 chr6 71238105 71238105 A G rs2747701 FAM135A Nonsynonymous SNV D1013G 0.52 0.505 0.459 197 610 194 0.505 135 147 44 31 50 22.9 25566 chr6 33653448 33653448 C T rs749338 ITPR3 Synonymous SNV G1837G 0.399 0.432 0.408 168 469 166 0.431 120 89 42 25 31 6.679 25567 chr17 36552190 36552190 A G rs55687042 SOCS7 Nonsynonymous SNV K636R 0.055 0.047 0.037 21 65 18 0.054 11 0 0 0 0 20.5 25568 chr19 35524824 35524824 T C rs55742440 SCN1B Nonsynonymous SNV L210P 0.466 0.445 0.486 173 547 171 0.444 143 127 41 39 31 Benign 0.12 25569 chr17 39388811 39388811 C A rs112082369 KRTAP9-3 Nonsynonymous SNV Q20K 0.134 0.122 0.16 59 157 47 0.151 47 10 2 2 6 0.001 25570 chr6 71569090 71569090 T C rs576516 SMAP1 Nonsynonymous SNV M416T 0.493 0.51 0.5 217 579 196 0.556 147 149 45 37 60 0.405 25571 chr19 35524939 35524939 C A rs67701503 SCN1B Nonsynonymous SNV S248R 0.212 0.208 0.187 77 249 80 0.197 55 24 8 6 5 Benign 23.5 25572 chr17 39421968 39421968 T C rs112809229 KRTAP9-6 Synonymous SNV P113P 0.082 0.083 0.105 39 96 32 0.1 31 42 14 14 17 0.007 25573 chr19 35524944 35524944 G C rs67486287 SCN1B Nonsynonymous SNV R250T 0.212 0.208 0.187 77 249 80 0.197 55 24 8 6 5 Benign 11.94 25574 chr6 71665731 71665731 C T rs149577161 B3GAT2 Synonymous SNV G134G 0.02 0.018 0.003 4 23 7 0.01 1 0 0 0 0 16.02 25575 chr17 39458476 39458476 A T rs1001191 KRTAP29-1 Nonsynonymous SNV C210S 0.145 0.135 0.207 59 170 52 0.151 61 13 1 4 4 19.1 25576 chr6 33659472 33659472 C G rs2229642 ITPR3 Nonsynonymous SNV L2436V 0.439 0.477 0.463 184 515 183 0.472 136 106 49 33 38 0.807 25577 chr19 35577870 35577870 G A rs7250814 HPN-AS1 0 0 0.51 0 0 0 0 150 0 0 36 0 6.841 25578 chr6 71665986 71665986 G A rs1574490 B3GAT2 Synonymous SNV G49G 0.497 0.471 0.497 172 584 181 0.441 146 145 46 42 38 8.387 25579 chr6 33690796 33690796 C T rs4713668 IP6K3 Nonsynonymous SNV V312I 0.402 0.448 0.418 171 472 172 0.438 123 89 44 27 33 17.72 25580 chr19 35590180 35590180 T A rs1687994 HPN-AS1 0 0 0.925 0 0 0 0 272 0 0 126 0 9.15 25581 chr17 39458574 39458586 GTACAGATGGTTG - rs144150438 KRTAP29-1 P173Qfs*109 0.144 0.135 0.204 59 169 52 0.151 60 13 1 4 4 25582 chr19 35612168 35612168 T A rs1688016 FXYD3 Nonsynonymous SNV L39H 0.367 0.432 0.299 136 431 166 0.349 88 80 39 8 23 3.078 25583 chr6 72889472 72889472 A G rs2249021 RIMS1 Synonymous SNV L222L 0.675 0.669 0.646 268 793 257 0.687 190 273 90 58 94 Benign 8.139 25584 chr17 36700163 36700163 C T rs35262222 SRCIN1 Synonymous SNV P1104P 0.069 0.063 0.088 28 81 24 0.072 26 2 0 1 0 17.85 25585 chr6 33690797 33690797 A G rs4711341 IP6K3 Synonymous SNV S311S 0.419 0.461 0.439 180 492 177 0.462 129 96 47 31 38 0.002 25586 chr17 39458893 39458893 G A rs758741 KRTAP29-1 Nonsynonymous SNV R71C 0.145 0.135 0.207 59 170 52 0.151 61 13 1 4 4 0.39 25587 chr19 35613623 35613623 G A rs1688017 MIR6887 0.367 0.43 0.296 136 431 165 0.349 87 80 39 8 23 4.087 25588 chr17 263367 263367 A T rs35400518 C17orf97 Nonsynonymous SNV I245F 0.018 0.039 0.01 8 21 15 0.021 3 4 3 0 0 0.003 25589 chr6 72892257 72892257 A G rs2463730 RIMS1 Synonymous SNV L361L 1 1 0.976 389 1174 384 0.997 287 587 192 143 194 Benign 10.73 25590 chr19 35616315 35616315 G A rs12610146 LGI4 Synonymous SNV L466L 0.365 0.432 0.296 136 429 166 0.349 87 80 39 8 23 9.542 25591 chr19 35616316 35616316 C T rs12610234 LGI4 Synonymous SNV Q465Q 0.365 0.432 0.296 136 429 166 0.349 87 80 39 8 23 10.32 25592 chr17 3474927 3474927 G A rs56315286 TRPV1 Synonymous SNV D746D 0.009 0.013 0.014 1 11 5 0.003 4 0 0 0 0 10.03 25593 chr6 72892383 72892383 G A rs114505309 RIMS1 Synonymous SNV A403A 0.289 0.297 0.289 114 339 114 0.292 85 65 23 14 20 Benign 16.54 25594 chr17 39464046 39464046 G C rs2074286 KRTAP16-1 Nonsynonymous SNV A487G 0.233 0.198 0.265 81 273 76 0.208 78 30 8 8 8 7.278 25595 chr19 35617270 35617270 T C rs1319969 LGI4 Synonymous SNV T401T 0.363 0.432 0.299 133 426 166 0.341 88 77 39 8 22 0.279 25596 chr6 73332040 73332040 C G rs3734212 KCNQ5 Synonymous SNV S41S 0.582 0.57 0.633 225 683 219 0.577 186 306 97 73 97 13.75 25597 chr6 33768897 33768897 A G rs2281820 MLN Nonsynonymous SNV V15A 0.658 0.656 0.67 252 772 252 0.646 197 263 83 63 81 0.005 25598 chr19 35617639 35617639 C G rs1687998 LGI4 Synonymous SNV P278P 0.314 0.378 0.286 110 369 145 0.282 84 76 38 8 22 8.54 25599 chr17 39464487 39464487 G C rs2074285 KRTAP16-1 Nonsynonymous SNV P340R 0.283 0.242 0.316 101 332 93 0.259 93 44 13 13 11 0.001 25600 chr17 36909499 36909499 A T rs4907 PSMB3 Nonsynonymous SNV M34L 0.078 0.078 0.044 35 91 30 0.09 13 5 0 1 3 23.2 25601 chr6 73904557 73904557 C T rs61743058 KCNQ5 Nonsynonymous SNV P630L 0.083 0.068 0.082 32 98 26 0.082 24 5 1 1 0 23.9 25602 chr17 34853569 34853569 C T rs140610432 ZNHIT3 Stop gain Q136X 0.024 0.023 0 19 28 9 0.049 0 0 0 0 3 2.064 25603 chr17 39464736 39464736 C G rs2074284 KRTAP16-1 Nonsynonymous SNV S257T 0.233 0.195 0.265 79 274 75 0.203 78 31 7 8 8 7.41 25604 chr19 35622695 35622695 A G rs1673007 LGI4 Synonymous SNV H152H 0.922 0.917 0.901 356 1082 352 0.913 265 495 161 119 162 0.163 25605 chr19 35649281 35649281 A G rs1128882 FXYD5 Synonymous SNV P59P 0.16 0.161 0.18 55 188 62 0.141 53 11 2 4 5 0.781 25606 chr6 74072937 74072937 G C rs564533 KHDC3L Nonsynonymous SNV E97Q 0.128 0.13 0.099 55 150 50 0.141 29 15 3 3 3 0.005 25607 chr19 35660508 35660508 G A rs12110 FXYD5 Nonsynonymous SNV R145H 0.719 0.685 0.711 281 844 263 0.721 209 307 88 76 100 3.596 25608 chr17 39465094 39465094 C T rs12453338 KRTAP16-1 Nonsynonymous SNV V138I 0.14 0.13 0.204 57 164 50 0.146 60 13 1 4 3 0.002 25609 chr6 34823463 34823463 A T UHRF1BP1 Nonsynonymous SNV Y368F 0 0 0 2 0 0 0.005 0 0 0 0 0 28.5 25610 chr19 35719106 35719106 A G rs565791 FAM187B Nonsynonymous SNV C160R 0.718 0.701 0.697 291 843 269 0.746 205 303 92 66 109 0.431 25611 chr17 39465389 39465389 T A rs12451604 KRTAP16-1 Synonymous SNV T39T 0.14 0.133 0.204 57 164 51 0.146 60 13 1 4 3 8.85 25612 chr6 74073531 74073531 C G rs561930 KHDC3L Nonsynonymous SNV A201G 0.59 0.576 0.524 227 693 221 0.582 154 203 65 39 67 14.53 25613 chr6 34824107 34824107 A C rs16894945 UHRF1BP1 Nonsynonymous SNV K404N 0.055 0.063 0.099 23 65 24 0.059 29 2 2 2 1 10.45 25614 chr17 39471753 39471767 GCCCCCGCAGCCAGA - rs796251471 KRTAP17-1 G47_S51del 0.141 0.13 0.197 59 166 50 0.151 58 13 1 4 3 25615 chr19 35719257 35719257 G A rs11673347 FAM187B Synonymous SNV D109D 0.585 0.57 0.52 240 687 219 0.615 153 198 60 33 73 2.469 25616 chr17 39471778 39471778 C T rs78413710 KRTAP17-1 Nonsynonymous SNV G42D 0.14 0.13 0.201 60 164 50 0.154 59 13 1 4 3 10.51 25617 chr6 74079024 74079024 A G rs496530 OOEP Nonsynonymous SNV V92A 0.594 0.578 0.524 220 697 222 0.564 154 204 66 39 62 0.021 25618 chr19 35719577 35719577 G A rs34873156 FAM187B Nonsynonymous SNV P3S 0.318 0.331 0.316 128 373 127 0.328 93 67 20 11 19 0.001 25619 chr17 39464437 39464437 G C rs72828116 KRTAP16-1 Nonsynonymous SNV L357V 0.094 0.065 0.061 24 110 25 0.062 18 3 1 2 1 5.893 25620 chr17 38519336 38519336 - GGCGGC GJD3 P248_A249insPP 0.002 0.016 0 0 2 6 0 0 0 0 0 0 25621 chr17 3947533 3947533 G A rs1006954 ZZEF1 Nonsynonymous SNV P2051S 0.157 0.154 0.187 78 184 59 0.2 55 12 4 6 7 2.264 25622 chr6 74079041 74079041 A C rs497243 OOEP Synonymous SNV V86V 0.999 1 0.99 389 1173 384 0.997 291 586 192 144 194 0.04 25623 chr19 35741456 35741456 T C rs2073900 LSR Synonymous SNV V164V 0.749 0.755 0.707 299 879 290 0.767 208 334 107 70 119 0.104 25624 chr19 35758275 35758275 - GGA rs112341068 LSR R411_S412insR 0.782 0.755 0.738 315 918 290 0.808 217 358 112 76 127 25625 chr6 74125875 74125875 A G rs311686 DDX43 Nonsynonymous SNV K625E 0.589 0.57 0.514 224 691 219 0.574 151 207 65 38 66 7.936 25626 chr17 3947644 3947644 T C rs781831 ZZEF1 Nonsynonymous SNV I2014V 0.416 0.432 0.429 172 488 166 0.441 126 100 35 26 44 0.039 25627 chr19 35786868 35786868 C T rs2301600 MAG Synonymous SNV S108S 0.204 0.211 0.211 64 239 81 0.164 62 28 9 4 5 14.25 25628 chr19 35793589 35793589 C T rs1126770 MAG Synonymous SNV T378T 0.302 0.323 0.333 114 354 124 0.292 98 59 22 12 14 13 25629 chr17 39464558 39464558 G A rs72828117 KRTAP16-1 Synonymous SNV P316P 0.094 0.065 0.061 24 110 25 0.062 18 3 1 2 1 7.398 25630 chr19 35843086 35843086 G A rs2301151 FFAR1 Nonsynonymous SNV R211H 0.896 0.893 0.857 351 1052 343 0.9 252 471 152 109 157 2.673 25631 chr6 74125888 74125888 A G rs311685 DDX43 Nonsynonymous SNV Q629R 0.591 0.573 0.514 222 694 220 0.569 151 208 65 38 66 0.012 25632 chr19 35940721 35940721 G C rs117215242 FFAR2 Synonymous SNV R35R 0.046 0.065 0.048 24 54 25 0.062 14 2 0 1 2 3.642 25633 chr17 39464779 39464779 T C rs72828119 KRTAP16-1 Nonsynonymous SNV S243G 0.091 0.063 0.061 24 107 24 0.062 18 3 1 2 1 0.26 25634 chr6 74135016 74135016 C T rs311678 CGAS Synonymous SNV K501K 0.755 0.758 0.748 285 886 291 0.731 220 332 109 84 104 11.44 25635 chr19 3595794 3595794 A G rs4523 TBXA2R Synonymous SNV Y308Y 0.655 0.625 0.684 233 769 240 0.597 201 245 76 74 63 Benign 0.282 25636 chr19 35991442 35991442 T G rs909072 DMKN Nonsynonymous SNV D41A 0.999 0.995 0.99 386 1173 382 0.99 291 586 190 144 191 2.77 25637 chr17 39471888 39471888 C T rs34354631 KRTAP17-1 Synonymous SNV P5P 0.092 0.063 0.065 24 108 24 0.062 19 3 1 2 1 15.88 25638 chr6 74155346 74155346 G T rs610913 CGAS Nonsynonymous SNV P261H 0.607 0.596 0.602 234 713 229 0.6 177 228 65 58 69 24.1 25639 chr19 36004106 36004106 A G rs4806163 DMKN Nonsynonymous SNV V91A 0.778 0.747 0.786 297 913 287 0.762 231 359 103 94 115 0.009 25640 chr6 74161503 74161503 A G rs9446904 CGAS Synonymous SNV P134P 0.862 0.854 0.84 325 1012 328 0.833 247 437 141 106 139 7.916 25641 chr19 36015652 36015652 C T rs17705633 SBSN Synonymous SNV S570S 0.118 0.112 0.095 47 139 43 0.121 28 8 2 2 4 20.4 25642 chr6 74161740 74161740 C T rs34985291 CGAS Synonymous SNV R55R 0.032 0.029 0.02 14 38 11 0.036 6 1 0 0 0 12.05 25643 chr19 36017928 36017928 G C rs10775583 SBSN Nonsynonymous SNV A419G 0.308 0.305 0.32 122 362 117 0.313 94 60 16 13 23 13.08 25644 chr6 74161801 74161801 G T rs9352000 CGAS Nonsynonymous SNV T35N 0.855 0.841 0.833 323 1004 323 0.828 245 437 141 105 140 0.002 25645 chr17 26938254 26938254 C G rs1034217849 RSKR Nonsynonymous SNV E306D 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 16.05 25646 chr17 39502398 39502398 A G rs16966703 KRT33A Synonymous SNV C396C 0.091 0.063 0.065 24 107 24 0.062 19 3 1 2 1 0.026 25647 chr19 36033825 36033825 G A rs2293681 TMEM147-AS1 0.118 0.109 0.092 47 138 42 0.121 27 8 2 2 5 3.268 25648 chr19 36048741 36048741 G T rs2230181 ATP4A Synonymous SNV I503I 0.419 0.393 0.235 171 492 151 0.438 69 98 28 20 42 11.73 25649 chr6 74521947 74521947 C T rs2917862 CD109 Nonsynonymous SNV T1164M 0.552 0.523 0.483 202 648 201 0.518 142 183 49 34 49 11.99 25650 chr19 36050969 36050969 A G rs2733743 ATP4A Nonsynonymous SNV V265A 0.911 0.893 0.922 356 1069 343 0.913 271 488 152 125 161 0.067 25651 chr17 39521248 39521248 A C rs71373411 KRT33B Nonsynonymous SNV Y294D 0.091 0.063 0.065 24 107 24 0.062 19 3 1 2 1 0.001 25652 chr6 74533192 74533192 T G rs2917887 CD109 Synonymous SNV A1314A 0.914 0.898 0.874 360 1073 345 0.923 257 494 159 113 166 10.15 25653 chr17 35872785 35872785 G A rs1051840 DUSP14 Synonymous SNV A137A 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 11.47 25654 chr6 75797302 75797302 C T rs970547 COL12A1 Nonsynonymous SNV G1894S 0.74 0.74 0.687 298 869 284 0.764 202 318 110 74 113 Benign 27.8 25655 chr19 3611765 3611765 A G rs2369188 CACTIN-AS1 0 0 0.67 0 0 0 0 197 0 0 67 0 1.924 25656 chr17 39619093 39619093 G A rs2604954 KRT32 Synonymous SNV N402N 0.613 0.612 0.565 237 720 235 0.608 166 221 66 55 72 12.08 25657 chr17 35913589 35913589 C T rs117611723 SYNRG Nonsynonymous SNV D585N 0.029 0.018 0.024 8 34 7 0.021 7 1 0 0 0 25.7 25658 chr19 3611972 3611972 G A rs2158935 CACTIN Synonymous SNV N742N 0.615 0.62 0.602 225 722 238 0.577 177 221 68 51 65 15.51 25659 chr6 75841722 75841722 A T rs594012 COL12A1 Synonymous SNV A793A 0.876 0.885 0.867 335 1029 340 0.859 255 451 148 112 143 Benign 0.091 25660 chr6 75848181 75848181 A G rs240736 COL12A1 Nonsynonymous SNV I574T 0.327 0.305 0.33 135 384 117 0.346 97 51 18 17 22 Benign 0.019 25661 chr19 3612914 3612914 T C rs6510763 CACTIN-AS1 0 0 0.731 0 0 0 0 215 0 0 83 0 0.474 25662 chr19 3613346 3613346 G A rs2074789 CACTIN Nonsynonymous SNV A499V 0.612 0.62 0.582 224 719 238 0.574 171 220 68 51 64 6.415 25663 chr17 39619094 39619094 T C rs2604955 KRT32 Nonsynonymous SNV N402S 0.613 0.612 0.568 237 720 235 0.608 167 221 66 55 72 5.965 25664 chr17 35937637 35937637 T C rs12602536 SYNRG Nonsynonymous SNV T222A 0.204 0.224 0.248 90 239 86 0.231 73 27 10 10 9 5.64 25665 chr6 76369054 76369054 A G rs507662 SENP6 Synonymous SNV R202R 0.987 0.995 0.969 380 1159 382 0.974 285 572 190 139 185 9.603 25666 chr19 3613400 3613400 C G rs2240504 CACTIN-AS1 0.612 0.62 0.585 224 719 238 0.574 172 220 68 51 64 1.614 25667 chr17 39535388 39535388 T C rs2071599 KRT34 Nonsynonymous SNV H348R 0.122 0.091 0.112 38 143 35 0.097 33 3 1 2 1 3.231 25668 chr6 76633385 76633385 C T rs3778005 IMPG1 Nonsynonymous SNV S683N 0.257 0.26 0.272 113 302 100 0.29 80 35 12 13 16 0.003 25669 chr19 3613422 3613422 G A rs2074790 CACTIN-AS1 0.612 0.62 0.582 224 719 238 0.574 171 220 68 51 64 5.431 25670 chr17 39619115 39619115 G A rs2071563 KRT32 Nonsynonymous SNV T395M 0.397 0.414 0.34 158 466 159 0.405 100 89 30 16 36 28.8 25671 chr19 3613596 3613596 A G rs57918402 CACTIN-AS1 0.676 0.667 0.67 248 794 256 0.636 197 262 82 67 78 2.361 25672 chr17 39619219 39619219 G A rs2857257 KRT32 Synonymous SNV N360N 0.613 0.615 0.609 237 720 236 0.608 179 221 67 56 72 6.587 25673 chr6 76660551 76660551 G C rs3734311 IMPG1 Nonsynonymous SNV H440D 0.451 0.44 0.442 177 530 169 0.454 130 114 38 28 35 0.027 25674 chr19 3614403 3614403 T C rs7255692 CACTIN Synonymous SNV A449A 0.989 0.987 0.986 385 1161 379 0.987 290 574 187 143 190 0.04 25675 chr19 36168914 36168914 T C rs2285421 UPK1A Nonsynonymous SNV M257T 0.515 0.526 0.401 232 605 202 0.595 118 153 45 34 68 0.069 25676 chr17 39620399 39620399 C T rs12948056 KRT32 Synonymous SNV Q309Q 0.393 0.404 0.327 155 461 155 0.397 96 87 27 12 33 13.02 25677 chr6 35763565 35763565 C T rs113528670 CLPS Synonymous SNV A50A 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign 12.36 25678 chr17 26938651 26938651 C T rs34026109 RSKR Nonsynonymous SNV G249S 0.031 0.047 0.044 13 36 18 0.033 13 1 0 1 0 28.7 25679 chr6 79595097 79595097 A G rs6908105 IRAK1BP1 Synonymous SNV A106A 0.332 0.341 0.323 135 390 131 0.346 95 69 22 15 22 13.75 25680 chr17 39553547 39553547 G A rs6503627 KRT31 Nonsynonymous SNV A82V 0.091 0.06 0.061 26 107 23 0.067 18 5 1 2 1 23.4 25681 chr19 36214632 36214632 - G rs11373774 KMT2B 1 1 0.956 389 1174 384 0.997 281 587 192 140 194 25682 chr6 35923246 35923246 T C rs2295852 SLC26A8 Nonsynonymous SNV I534V 0.346 0.393 0.418 156 406 151 0.4 123 63 25 23 34 0.001 25683 chr19 36224705 36224705 A G rs231591 KMT2B Nonsynonymous SNV D2364G 0.5 0.505 0.435 224 587 194 0.574 128 143 44 32 62 0.134 25684 chr6 79656562 79656562 A T rs2275291 PHIP Synonymous SNV A1412A 0.252 0.266 0.259 100 296 102 0.256 76 38 17 9 13 0.024 25685 chr17 26943542 26943542 G T rs117647565 SPAG5-AS1 0.025 0.044 0.044 12 29 17 0.031 13 0 0 1 0 7.659 25686 chr17 39577215 39577215 G A rs8071814 KRT37 Nonsynonymous SNV T422M 0.089 0.063 0.061 25 105 24 0.064 18 5 1 2 1 24.2 25687 chr6 79656570 79656570 G A rs2275290 PHIP Synonymous SNV L1410L 0.33 0.336 0.32 133 388 129 0.341 94 67 22 15 22 4.383 25688 chr19 36243089 36243089 T C rs170758 LIN37 Nonsynonymous SNV V2A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.99 25689 chr17 39633354 39633354 C T rs12451652 KRT35 Nonsynonymous SNV C441Y 0.141 0.133 0.197 60 166 51 0.154 58 15 3 3 5 23.4 25690 chr6 79675701 79675701 A G rs9350797 PHIP Nonsynonymous SNV L1093P 0.25 0.263 0.259 100 294 101 0.256 76 38 17 9 13 9.775 25691 chr19 36243813 36243813 G A rs231243 LIN37 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 23.6 25692 chr6 36260858 36260858 C T rs2239795 PNPLA1 Synonymous SNV F58F 0.451 0.438 0.371 175 529 168 0.449 109 123 34 18 30 Benign 19.08 25693 chr6 79708000 79708000 A C rs7747479 PHIP Nonsynonymous SNV V663G 0.961 0.969 0.973 375 1128 372 0.962 286 542 180 139 180 0.043 25694 chr19 36258938 36258938 G - rs398034467 PROSER3 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 25695 chr19 36273534 36273534 G A rs2291067 ARHGAP33 Synonymous SNV L286L 0.266 0.245 0.279 111 312 94 0.285 82 38 13 9 18 8.336 25696 chr19 36275074 36275074 G A rs62112163 ARHGAP33 Synonymous SNV R338R 0.265 0.247 0.262 110 311 95 0.282 77 39 13 9 18 8.805 25697 chr6 79944096 79944096 - AG rs3076135 HMGN3-AS1 0.614 0.667 0.908 272 721 256 0.697 267 356 128 124 133 25698 chr6 79944355 79944355 T G rs9361504 HMGN3-AS1 0.951 0.956 0.922 369 1117 367 0.946 271 534 177 125 174 16.72 25699 chr6 36274153 36274153 C T rs12197079 PNPLA1 Nonsynonymous SNV T404M 0.295 0.258 0.286 118 346 99 0.303 84 41 11 9 21 Benign 7.628 25700 chr6 80196848 80196848 C T rs1875845 LCA5 Nonsynonymous SNV G656D 0.287 0.305 0.231 106 337 117 0.272 68 51 19 11 14 Benign 3.7 25701 chr19 36279863 36279863 G - rs398034468 LINC01529 0 0 0.997 0 0 0 0 293 0 0 146 0 25702 chr19 36322270 36322270 C T rs2071327 NPHS1 Synonymous SNV S1105S 0.332 0.396 0.279 136 390 152 0.349 82 69 29 13 26 Benign 12.03 25703 chr19 36355595 36355595 A G rs382789 KIRREL2 Nonsynonymous SNV K541E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.012 25704 chr6 36275458 36275458 T C rs4713956 PNPLA1 Nonsynonymous SNV S436P 0.563 0.531 0.537 226 661 204 0.579 158 199 53 41 60 Benign 0.004 25705 chr6 80228541 80228541 A G rs2655655 LCA5 Nonsynonymous SNV L24S 0.803 0.81 0.823 319 943 311 0.818 242 386 126 101 132 Benign 10.23 25706 chr19 36486445 36486445 G C rs7249826 SDHAF1 Nonsynonymous SNV C90S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.016 25707 chr17 39619186 39619186 G C rs2604956 KRT32 Nonsynonymous SNV D371E 0.077 0.065 0.061 21 90 25 0.054 18 3 1 2 1 23.6 25708 chr6 82461493 82461493 G A rs147316162 TENT5A Synonymous SNV G122G 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 Benign 1.926 25709 chr19 36497358 36497358 C G rs2285422 SYNE4 Nonsynonymous SNV Q165H 0.956 0.961 0.854 379 1122 369 0.972 251 541 177 120 184 Benign 0.019 25710 chr6 82461727 82461727 - CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG TENT5A G45_G46insDFGGGDFGGG 0.011 0.021 0.007 7 13 8 0.018 2 1 2 0 0 25711 chr6 82927691 82927691 C T rs147304035 IBTK Nonsynonymous SNV S471N 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 10.1 25712 chr17 39619193 39619193 C T rs11078993 KRT32 Nonsynonymous SNV R369Q 0.066 0.063 0.082 19 78 24 0.049 24 2 0 2 0 24.5 25713 chr6 36294864 36294864 A G rs41270098 BNIP5 Synonymous SNV A245A 0.066 0.076 0.092 28 78 29 0.072 27 3 1 0 1 1.189 25714 chr17 3844399 3844399 G A rs140404080 ATP2A3 Nonsynonymous SNV R656C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 25715 chr19 36499173 36499173 C T rs2285424 SYNE4 Synonymous SNV P75P 0.113 0.128 0.126 50 133 49 0.128 37 9 3 2 5 Benign 9.774 25716 chr6 36393816 36393816 A G rs664370 PXT1 Nonsynonymous SNV V15A 0.336 0.354 0.374 129 395 136 0.331 110 71 27 20 25 1.418 25717 chr19 36530332 36530332 G A rs10420353 THAP8 Nonsynonymous SNV R146W 0.3 0.31 0.323 109 352 119 0.279 95 46 19 20 17 18.49 25718 chr6 83075914 83075914 G A rs700494 TPBG Synonymous SNV T412T 0.693 0.724 0.745 276 813 278 0.708 219 272 102 79 95 5.832 25719 chr6 36446975 36446975 G C rs2239808 KCTD20 Nonsynonymous SNV S26T 0.215 0.234 0.231 89 252 90 0.228 68 23 9 7 12 28.9 25720 chr6 83667045 83667045 C T rs7739323 UBE3D Nonsynonymous SNV V192M 0.141 0.159 0.153 52 165 61 0.133 45 11 5 3 5 10.06 25721 chr17 39092784 39092784 C T rs61745879 KRT23 Synonymous SNV R24R 0.083 0.096 0.088 32 97 37 0.082 26 4 1 1 2 6.879 25722 chr19 36530343 36530343 C T rs10421966 THAP8 Nonsynonymous SNV R142Q 0.3 0.31 0.323 111 352 119 0.285 95 46 19 20 17 9.603 25723 chr17 27890082 27890082 T C rs145924627 ABHD15 Nonsynonymous SNV T302A 0.007 0.005 0.014 1 8 2 0.003 4 0 0 0 0 3.388 25724 chr17 39684321 39684321 G C rs4602 KRT19 Nonsynonymous SNV A60G 0.707 0.734 0.609 272 830 282 0.697 179 289 106 66 96 not provided 11.34 25725 chr6 83949261 83949261 T C rs1180230 ME1 Synonymous SNV G303G 0.465 0.484 0.497 177 546 186 0.454 146 127 49 31 37 1.167 25726 chr19 3653525 3653525 C T rs2074957 PIP5K1C Synonymous SNV S228S 0.641 0.651 0.622 255 753 250 0.654 183 243 81 54 84 12.42 25727 chr17 39135207 39135207 A G rs150812789 KRT40 Nonsynonymous SNV C349R 0.196 0.237 0.201 79 230 91 0.203 59 26 11 6 7 12.51 25728 chr19 36549690 36549690 C T rs11538454 WDR62 Synonymous SNV L62L 0.21 0.206 0.194 73 247 79 0.187 57 24 7 6 7 Benign 17.71 25729 chr6 84233831 84233831 G A rs504593 PRSS35 Nonsynonymous SNV R224Q 0.834 0.849 0.84 354 979 326 0.908 247 405 139 103 159 0.293 25730 chr17 39684410 39684410 G A rs11550883 KRT19 Synonymous SNV A30A 0.691 0.719 0.544 263 811 276 0.674 160 277 103 61 88 Benign 11.21 25731 chr19 36575645 36575645 G A rs2301734 WDR62 Synonymous SNV T547T 0.204 0.201 0.197 73 240 77 0.187 58 24 7 6 7 Benign 7.785 25732 chr19 36590329 36590329 T C rs2285745 WDR62 Nonsynonymous SNV L850S 0.653 0.664 0.619 246 767 255 0.631 182 250 87 57 78 Benign 1.48 25733 chr6 36689926 36689926 A G rs114502946 RAB44 Nonsynonymous SNV E672G 0.01 0.023 0.01 4 12 9 0.01 3 0 0 0 0 17.56 25734 chr17 3979982 3979982 G A rs8065185 ZZEF1 Synonymous SNV L1061L 0.176 0.167 0.204 82 207 64 0.21 60 17 4 7 11 3 25735 chr6 84234144 84234144 C T rs3812141 PRSS35 Synonymous SNV S328S 0.138 0.13 0.146 65 162 50 0.167 43 10 1 1 5 16.16 25736 chr17 36830562 36830562 G C rs79676758 EPOP Nonsynonymous SNV L63V 0.168 0.141 0.085 69 197 54 0.177 25 29 9 4 9 9.342 25737 chr6 84300997 84300997 A G rs2273363 SNAP91 Synonymous SNV S619S 0.274 0.237 0.293 116 322 91 0.297 86 48 11 8 17 5.013 25738 chr19 36594659 36594659 A T rs2074435 WDR62 Nonsynonymous SNV Q1310L 0.614 0.625 0.629 249 721 240 0.638 185 217 76 59 79 Benign 1.711 25739 chr6 84303342 84303342 T C rs1033655 SNAP91 Synonymous SNV P398P 0.601 0.57 0.605 260 706 219 0.667 178 215 59 50 83 0.271 25740 chr6 36733132 36733132 G A rs763048 CPNE5 Synonymous SNV Y253Y 0.579 0.583 0.656 210 680 224 0.538 193 202 68 60 56 8.951 25741 chr19 36595436 36595436 A C rs1008328 WDR62 Nonsynonymous SNV L1390F 0.802 0.807 0.782 300 941 310 0.769 230 378 125 89 118 Benign 1.345 25742 chr6 84896314 84896316 TTC - rs199518175 CEP162 E303del 0.067 0.06 0.061 21 79 23 0.054 18 1 2 1 1 25743 chr6 85473758 85473758 C T rs172562 TBX18 Nonsynonymous SNV G48R 0.509 0.492 0.493 205 598 189 0.526 145 148 37 34 54 Benign 16.39 25744 chr17 39150284 39150284 A G rs2010201 KRTAP3-3 Synonymous SNV S22S 0.236 0.268 0.255 96 277 103 0.246 75 32 17 10 14 0.002 25745 chr17 28651877 28651877 T C rs148543076 TMIGD1 Synonymous SNV S199S 0.021 0.021 0.01 7 25 8 0.018 3 0 0 0 0 0.603 25746 chr19 36603703 36603703 T A rs2072605 OVOL3 Synonymous SNV P67P 0.573 0.581 0.561 225 673 223 0.577 165 193 69 47 65 7.577 25747 chr6 36930814 36930814 T C rs41272198 PI16 Synonymous SNV T232T 0.183 0.177 0.19 73 215 68 0.187 56 15 6 7 5 6.45 25748 chr17 39155881 39155881 C T rs3813048 KRTAP3-2 Synonymous SNV P75P 0.077 0.096 0.109 30 90 37 0.077 32 1 1 3 0 7.127 25749 chr19 36605588 36605588 G A rs149812865 POLR2I Synonymous SNV D29D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.982 25750 chr17 36926016 36926016 G C rs745535216 PIP4K2B Synonymous SNV A393A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.72 25751 chr6 86199233 86199233 A G rs2229523 NT5E Nonsynonymous SNV T376A 0.75 0.766 0.707 297 880 294 0.762 208 332 112 71 115 0.006 25752 chr17 39155969 39155969 A G rs3813050 KRTAP3-2 Nonsynonymous SNV I46T 0.074 0.091 0.099 30 87 35 0.077 29 0 0 1 0 3.358 25753 chr19 36637136 36637136 C T rs756080664 CAPNS1 Stop gain R103X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 25754 chr17 36926731 36926731 T G rs228289 PIP4K2B Synonymous SNV T376T 0.273 0.268 0.262 120 320 103 0.308 77 42 13 10 17 3.525 25755 chr17 29161990 29161990 C T rs143006132 ATAD5 Synonymous SNV D297D 0.043 0.042 0.034 13 50 16 0.033 10 0 0 0 0 3.075 25756 chr19 36727365 36727365 G A rs2070132 ZNF146 Nonsynonymous SNV R8K 0.412 0.448 0.395 154 484 172 0.395 116 101 31 24 31 4.714 25757 chr6 86199243 86199243 T C rs2229524 NT5E Nonsynonymous SNV M379T 0.074 0.078 0.065 34 87 30 0.087 19 3 2 0 4 2.141 25758 chr17 36926767 36926767 G A rs228290 PIP4K2B Synonymous SNV F364F 0.258 0.237 0.241 113 303 91 0.29 71 36 10 8 14 14.3 25759 chr17 29226187 29226187 C A rs900836101 TEFM X361Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.82 25760 chr17 39156067 39156067 A G rs9890989 KRTAP3-2 Synonymous SNV T13T 0.077 0.096 0.109 30 90 37 0.077 32 1 1 3 0 0.073 25761 chr19 36912559 36912559 A G rs2945948 LOC644189 0 0 0.653 0 0 0 0 192 0 0 62 0 2.974 25762 chr17 39156084 39156084 T C rs9897046 KRTAP3-2 Nonsynonymous SNV S8G 0.077 0.096 0.109 30 90 37 0.077 32 1 1 3 0 0.001 25763 chr19 36912860 36912860 G A rs10426014 LOC644189 0 0 0.646 0 0 0 0 190 0 0 62 0 8.543 25764 chr6 87967636 87967636 A G rs6941356 ZNF292 Nonsynonymous SNV N1430S 0.089 0.094 0.065 32 105 36 0.082 19 3 1 1 0 0.044 25765 chr19 36912925 36912925 A T rs10402405 LOC644189 0 0 0.588 0 0 0 0 173 0 0 59 0 6.495 25766 chr19 36940760 36940760 G T rs2967532 ZNF566 Synonymous SNV R22R 0.591 0.547 0.575 237 694 210 0.608 169 201 59 54 71 0.172 25767 chr19 36981218 36981218 G A rs2967473 LOC728752 0 0 0.861 0 0 0 0 253 0 0 107 0 1.432 25768 chr6 87968565 87968565 A G rs9362415 ZNF292 Nonsynonymous SNV I1740V 0.497 0.495 0.429 176 583 190 0.451 126 143 43 33 36 0.008 25769 chr19 37004938 37004938 T C rs2967505 ZNF260 Synonymous SNV S401S 0.33 0.313 0.371 142 387 120 0.364 109 55 18 24 24 1.044 25770 chr17 37224211 37224211 C T rs75117355 PLXDC1 Nonsynonymous SNV R462H 0.091 0.112 0.143 46 107 43 0.118 42 6 5 4 3 34 25771 chr19 37038092 37038092 T C rs2278168 ZNF529 Synonymous SNV G438G 0.271 0.271 0.259 110 318 104 0.282 76 39 14 8 19 3.412 25772 chr6 87969737 87969737 C T rs3734187 ZNF292 Synonymous SNV N2130N 0.497 0.492 0.429 176 584 189 0.451 126 144 43 33 36 10.84 25773 chr6 37623626 37623626 C T rs13204070 MDGA1 Synonymous SNV V143V 0.199 0.206 0.255 83 234 79 0.213 75 25 8 6 7 10.4 25774 chr19 37039069 37039069 A C rs2912444 ZNF529 Nonsynonymous SNV L113V 0.653 0.664 0.694 275 767 255 0.705 204 256 89 72 102 0.001 25775 chr17 263221 263221 G - rs782040746 C17orf97 Y197Tfs*221 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25776 chr6 37626142 37626142 C T rs2273110 MDGA1 Synonymous SNV S87S 0.199 0.206 0.255 83 234 79 0.213 75 25 8 6 7 15.26 25777 chr6 87970301 87970301 C G rs3812132 ZNF292 Synonymous SNV T2318T 0.537 0.534 0.463 195 630 205 0.5 136 164 52 39 43 0.004 25778 chr17 29623288 29623288 C T rs11080149 OMG Nonsynonymous SNV G21D 0.089 0.068 0.082 28 105 26 0.072 24 4 2 0 3 19.64 25779 chr19 37064240 37064240 A G rs2967442 ZNF529-AS1 0 0 0.67 0 0 0 0 197 0 0 70 0 7.897 25780 chr6 37631768 37631768 A G rs10947690 MDGA1 Nonsynonymous SNV L61P 0.128 0.117 0.109 62 150 45 0.159 32 7 2 1 2 28.8 25781 chr6 87970650 87970650 G A rs61744959 ZNF292 Nonsynonymous SNV V2435I 0.023 0.023 0.014 7 27 9 0.018 4 0 0 0 0 5.525 25782 chr19 37064267 37064267 C T rs3096618 ZNF529-AS1 0 0 0.34 0 0 0 0 100 0 0 23 0 9.976 25783 chr19 37068081 37068081 G C rs2912410 ZNF529-AS1 0 0 0.799 0 0 0 0 235 0 0 117 0 1.163 25784 chr17 3020421 3020421 C G rs61733523 OR1E3 Nonsynonymous SNV I176M 0.026 0.029 0.02 9 30 11 0.023 6 0 0 0 0 3.956 25785 chr17 30677325 30677325 G A rs140451700 ZNF207 Synonymous SNV K7K 0.014 0.018 0 7 17 7 0.018 0 0 0 0 0 20.1 25786 chr19 37068235 37068235 T C rs3108598 ZNF529-AS1 0 0 0.231 0 0 0 0 68 0 0 11 0 2.108 25787 chr6 87994015 87994015 A G rs6934603 GJB7 Nonsynonymous SNV F206L 0.497 0.492 0.429 177 584 189 0.454 126 143 43 33 36 0.012 25788 chr17 39023381 39023381 G A rs17566772 KRT12 Nonsynonymous SNV R20W 0.069 0.096 0.068 35 81 37 0.09 20 1 2 0 1 21.5 25789 chr17 39296466 39296466 G A rs35985080 KRTAP4-6 Nonsynonymous SNV P92S 0.056 0.073 0.037 20 66 28 0.051 11 3 0 0 0 21.3 25790 chr19 37117302 37117302 A G rs3108171 ZNF382 Nonsynonymous SNV E167G 0.677 0.643 0.643 251 795 247 0.644 189 269 79 65 80 3.137 25791 chr6 38747770 38747770 G A rs1738254 DNAH8 Nonsynonymous SNV G473R 0.053 0.055 0.024 22 62 21 0.056 7 4 2 0 1 0.313 25792 chr6 87994572 87994572 G A rs4707358 GJB7 Nonsynonymous SNV T20I 0.537 0.534 0.466 195 631 205 0.5 137 165 52 39 43 0.002 25793 chr19 37118439 37118439 C T rs61732180 ZNF382 Nonsynonymous SNV T546M 0.262 0.263 0.248 109 308 101 0.279 73 35 13 7 19 8.322 25794 chr17 39305646 39305646 C T rs1846044 KRTAP4-5 Nonsynonymous SNV C125Y 0.057 0.073 0.044 19 67 28 0.049 13 3 0 0 0 23.9 25795 chr6 38750812 38750812 T C rs1678664 DNAH8 Synonymous SNV G547G 0.069 0.065 0.034 25 81 25 0.064 10 6 2 1 2 6.39 25796 chr6 88125542 88125542 G A rs61731441 CFAP206 Nonsynonymous SNV R141H 0.095 0.099 0.061 31 111 38 0.079 18 5 1 1 0 20.2 25797 chr19 37210529 37210529 A G rs3108200 ZNF567 Synonymous SNV R270R 0.325 0.305 0.33 135 381 117 0.346 97 65 19 14 28 0.006 25798 chr17 30981567 30981567 G A rs143448106 MYO1D Synonymous SNV A806A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.4 25799 chr6 38759379 38759379 G A rs1678674 DNAH8 Nonsynonymous SNV A727T 0.043 0.049 0.014 21 51 19 0.054 4 3 2 0 1 21.7 25800 chr17 39041052 39041052 C T rs7212483 KRT20 Nonsynonymous SNV S129N 0.072 0.091 0.071 34 84 35 0.087 21 0 2 0 1 0.019 25801 chr19 37210805 37210805 C T rs3108201 ZNF567 Synonymous SNV Y362Y 0.675 0.641 0.639 251 792 246 0.644 188 268 78 65 80 0.377 25802 chr19 37239278 37239278 C A rs11672680 ZNF850 Synonymous SNV R856R 0.258 0.268 0.286 114 303 103 0.292 84 34 11 17 16 12.66 25803 chr6 88126423 88126423 G C rs16879281 CFAP206 Nonsynonymous SNV G170A 0.098 0.107 0.061 32 115 41 0.082 18 5 1 1 0 7.856 25804 chr17 39041309 39041309 G A rs17567558 KRT20 Synonymous SNV G43G 0.071 0.091 0.068 34 83 35 0.087 20 0 2 0 1 9.848 25805 chr19 37241141 37241141 A G rs1673082 ZNF850 Synonymous SNV H235H 0.87 0.854 0.857 347 1021 328 0.89 252 452 141 107 154 0.008 25806 chr19 3730041 3730041 C T rs7258176 TJP3 Synonymous SNV I58I 0.655 0.659 0.646 239 769 253 0.613 190 259 84 63 71 12.37 25807 chr6 88140811 88140811 C A rs117649467 CFAP206 Nonsynonymous SNV A407E 0.045 0.047 0.024 13 53 18 0.033 7 3 0 0 0 22.9 25808 chr19 3731985 3731985 G A rs1879040 TJP3 Synonymous SNV S222S 0.326 0.341 0.354 127 383 131 0.326 104 62 23 21 20 8.808 25809 chr17 31260255 31260255 C T rs29019 TMEM98 Synonymous SNV D65D 0.045 0.063 0.068 18 53 24 0.046 20 0 0 2 1 17.04 25810 chr17 40021498 40021498 G A rs61743192 KLHL11 Synonymous SNV G42G 0.01 0.01 0.027 9 12 4 0.023 8 0 0 0 0 6.308 25811 chr19 3738649 3738649 A C rs599587 TJP3 Synonymous SNV R461R 0.675 0.688 0.667 253 793 264 0.649 196 277 93 66 82 0.187 25812 chr17 3979949 3979949 G A rs7207986 ZZEF1 Synonymous SNV P1072P 0.162 0.19 0.163 55 190 73 0.141 48 12 7 2 5 9.23 25813 chr17 31267834 31267834 C T rs75786524 TMEM98 Synonymous SNV H168H 0.009 0.008 0.017 5 11 3 0.013 5 0 0 0 0 Benign 14.85 25814 chr6 38800209 38800209 T C rs1678729 DNAH8 Synonymous SNV L1217L 0.121 0.133 0.088 59 142 51 0.151 26 10 5 0 9 Benign 6.473 25815 chr19 3738971 3738971 A G rs600986 TJP3 Synonymous SNV P490P 0.677 0.688 0.656 252 795 264 0.646 193 279 93 66 82 7.613 25816 chr6 88239266 88239266 T C rs17850652 RARS2 Nonsynonymous SNV K116R 0.072 0.07 0.031 23 85 27 0.059 9 4 0 0 0 Likely benign 17.1 25817 chr17 38635981 38635981 C T rs141187598 TNS4 Nonsynonymous SNV V619M 0.008 0.013 0.01 2 9 5 0.005 3 0 0 0 0 24.7 25818 chr19 3740658 3740658 T G rs10416362 TJP3 Synonymous SNV L580L 0.483 0.49 0.425 194 567 188 0.497 125 136 49 33 50 0.312 25819 chr6 38816574 38816574 T C rs1678744 DNAH8 Synonymous SNV P1515P 0.014 0.01 0.014 7 17 4 0.018 4 0 0 0 0 Benign 2.175 25820 chr17 4008021 4008021 T C rs7222392 ZZEF1 Synonymous SNV L493L 0.173 0.159 0.204 81 203 61 0.208 60 17 3 7 11 0.084 25821 chr19 3750615 3750615 T C rs1046268 TJP3 Nonsynonymous SNV M898T 0.607 0.625 0.558 236 713 240 0.605 164 226 77 42 69 0.001 25822 chr6 89907873 89907873 G A rs422751 GABRR1 Synonymous SNV D129D 0.809 0.836 0.81 322 950 321 0.826 238 382 138 96 134 10.18 25823 chr6 38820544 38820544 C T rs1678746 DNAH8 Synonymous SNV A1630A 0.012 0.008 0.014 6 14 3 0.015 4 0 0 0 0 Benign 12.94 25824 chr17 40142302 40142302 T C rs1127182 DNAJC7 Synonymous SNV P137P 0.061 0.065 0.095 22 72 25 0.056 28 0 1 1 0 10.12 25825 chr6 89913209 89913209 C T rs4590242 GABRR1 0.679 0.682 0.633 267 797 262 0.685 186 263 85 60 91 6.406 25826 chr6 38850809 38850809 C A rs862432 DNAH8 Nonsynonymous SNV T2444N 0.012 0.003 0.01 6 14 1 0.015 3 0 0 0 0 Benign 26.2 25827 chr19 3750622 3750622 A C rs1046271 TJP3 Synonymous SNV V900V 0.61 0.63 0.568 243 716 242 0.623 167 229 79 45 75 0.05 25828 chr17 40175902 40175902 G A rs35364057 NKIRAS2 Synonymous SNV L189L 0.025 0.029 0.037 14 29 11 0.036 11 0 1 1 0 9.107 25829 chr6 89926962 89926962 T C rs1186902 GABRR1 Nonsynonymous SNV H27R 0.29 0.315 0.245 101 341 121 0.259 72 40 17 9 11 8.446 25830 chr19 3752874 3752874 A G rs8102086 APBA3 Nonsynonymous SNV C376R 0.609 0.622 0.558 234 715 239 0.6 164 227 78 43 68 1.55 25831 chr17 40277828 40277828 G T RAB5C Synonymous SNV A208A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.532 25832 chr17 40459737 40459737 C T rs1135669 STAT5A Synonymous SNV D604D 0.195 0.177 0.173 86 229 68 0.221 51 22 8 2 6 13.31 25833 chr17 39150167 39150167 G A rs12452295 KRTAP3-3 Synonymous SNV C61C 0.32 0.297 0.265 127 376 114 0.326 78 63 16 8 16 10.73 25834 chr6 89981413 89981413 T C rs282117 GABRR2 Synonymous SNV V83V 0.565 0.581 0.582 223 663 223 0.572 171 185 68 49 58 8.005 25835 chr19 3767265 3767265 C T rs7239 MRPL54 Synonymous SNV F97F 0.48 0.49 0.469 204 564 188 0.523 138 130 50 32 54 13.57 25836 chr6 90039670 90039670 G C rs10502 UBE2J1 Nonsynonymous SNV L229V 0.354 0.339 0.384 124 416 130 0.318 113 64 20 23 20 0.009 25837 chr19 37733771 37733771 A C rs12974332 ZNF383 Synonymous SNV S211S 0.021 0.029 0.024 6 25 11 0.015 7 0 0 0 0 0.095 25838 chr19 37854580 37854580 C T rs3745764 ZNF875 Nonsynonymous SNV T568I 0.289 0.26 0.327 95 339 100 0.244 96 48 13 15 10 16.4 25839 chr17 40469226 40469226 C T STAT3 Synonymous SNV L706L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.73 25840 chr17 39156027 39156027 G A rs3829598 KRTAP3-2 Nonsynonymous SNV R27C 0.158 0.169 0.146 66 186 65 0.169 43 18 6 1 4 25.9 25841 chr6 90315789 90315789 A G rs3748085 ANKRD6 Nonsynonymous SNV I128V 0.793 0.794 0.779 321 931 305 0.823 229 374 124 85 131 6.754 25842 chr19 37879852 37879852 - TGTG rs376931538 ZNF527 Frameshift insertion P301Lfs*7 0.174 0.206 0.156 95 204 79 0.244 46 20 8 4 11 25843 chr6 39040654 39040654 A C rs2235868 GLP1R Synonymous SNV R176R 0.534 0.544 0.517 203 627 209 0.521 152 164 51 38 50 3.4 25844 chr19 37879855 37879855 T - rs200420244 ZNF527 Y302Mfs*126 0.174 0.206 0.156 95 204 79 0.244 46 20 8 4 11 25845 chr17 39186031 39186031 C T rs8074117 KRTAP1-4 Synonymous SNV P100P 0.292 0.307 0.303 114 343 118 0.292 89 52 14 13 14 18.88 25846 chr6 39041502 39041502 A C rs1042044 GLP1R Nonsynonymous SNV L260F 0.587 0.576 0.568 226 689 221 0.579 167 194 54 50 61 2.541 25847 chr19 38024271 38024271 T G rs12977460 ZNF793 Nonsynonymous SNV I68M 0.062 0.06 0.068 21 73 23 0.054 20 1 1 0 1 11.41 25848 chr6 90326360 90326360 C T rs2273238 ANKRD6 Nonsynonymous SNV T200M 0.032 0.026 0.061 18 38 10 0.046 18 0 0 1 0 11.42 25849 chr17 40714804 40714804 C A rs615942 COASY Nonsynonymous SNV S55Y 0.447 0.451 0.429 155 525 173 0.397 126 115 39 28 33 Benign 24.2 25850 chr17 39186168 39186168 A C rs8074887 KRTAP1-4 Nonsynonymous SNV S55A 0.309 0.323 0.327 118 363 124 0.303 96 59 17 16 16 0.004 25851 chr19 38027957 38027957 A G rs45593644 ZNF793 Nonsynonymous SNV I133V 0.026 0.047 0.027 13 31 18 0.033 8 0 0 0 0 0.205 25852 chr6 90333599 90333599 A G rs17292811 ANKRD6 Synonymous SNV A288A 0.842 0.833 0.871 314 988 320 0.805 256 421 132 111 126 11.8 25853 chr6 39048491 39048491 A C rs1126476 GLP1R Synonymous SNV I400I 0.491 0.513 0.48 202 577 197 0.518 141 138 47 36 51 0.521 25854 chr17 40716520 40716520 A G rs598126 COASY Synonymous SNV T324T 0.447 0.451 0.425 157 525 173 0.403 125 116 39 28 35 Benign 0.02 25855 chr17 39186220 39186220 G A rs8073323 KRTAP1-4 Synonymous SNV T37T 0.295 0.307 0.306 114 346 118 0.292 90 52 14 13 14 7.54 25856 chr6 90340276 90340276 G A rs3210511 ANKRD6 Synonymous SNV S515S 0.468 0.438 0.531 183 550 168 0.469 156 123 32 37 40 6.148 25857 chr19 38055612 38055612 A T rs4802029 ZNF571 Nonsynonymous SNV L573H 0.173 0.201 0.18 76 203 77 0.195 53 17 7 5 5 26 25858 chr17 39190758 39190758 T C rs62622847 KRTAP1-3 Nonsynonymous SNV I106V 0.144 0.135 0.126 59 169 52 0.151 37 13 1 0 3 0.029 25859 chr17 40722029 40722029 A G rs665268 MLX Nonsynonymous SNV Q139R 0.23 0.211 0.194 88 270 81 0.226 57 33 8 5 9 14.83 25860 chr6 90371202 90371202 G A rs9444701 MDN1 Synonymous SNV L4887L 0.572 0.563 0.636 214 672 216 0.549 187 190 61 55 55 10.36 25861 chr19 38056574 38056574 T A rs28512414 ZNF571 Nonsynonymous SNV E252D 0.173 0.201 0.18 77 203 77 0.197 53 17 7 5 5 20.7 25862 chr6 90390443 90390443 C A rs9353689 MDN1 Nonsynonymous SNV A4044S 0.473 0.438 0.534 186 555 168 0.477 157 126 32 39 41 8.886 25863 chr17 39190954 39190954 - CAGCAGCTTGGCTGGCAGCAGCTGGTCTCA rs71300033 KRTAP1-3 C40_Q41insETSCCQPSCC 0.419 0.385 0.398 150 492 148 0.385 117 118 31 22 33 25864 chr17 40811919 40811919 A G rs525911 TUBG2 Synonymous SNV E39E 0.438 0.424 0.432 150 514 163 0.385 127 112 33 27 31 Benign 1.688 25865 chr17 39197176 39197176 G A rs3815561 KRTAP1-1 Synonymous SNV Y158Y 0.131 0.13 0.129 57 154 50 0.146 38 8 1 0 3 4.179 25866 chr17 40818699 40818699 A G rs1046097 TUBG2 Nonsynonymous SNV M413V 0.432 0.417 0.422 143 507 160 0.367 124 106 33 27 28 10.31 25867 chr19 38077661 38077661 G A rs8111055 ZNF571-AS1 0.788 0.792 0.803 291 925 304 0.746 236 370 123 96 109 5.598 25868 chr17 39197499 39197499 G A rs3213755 KRTAP1-1 Stop gain Q51X 0.128 0.13 0.129 55 150 50 0.141 38 4 0 0 1 36 25869 chr6 90398197 90398197 T C rs769033 LOC101929057 0.836 0.815 0.857 306 982 313 0.785 252 414 126 108 119 3.673 25870 chr19 38091932 38091932 A T rs1975937 ZNF540 Nonsynonymous SNV D53V 0.174 0.201 0.18 75 204 77 0.192 53 18 7 5 5 18.41 25871 chr17 39406002 39406002 G A rs12952568 KRTAP9-4 Synonymous SNV Q10Q 0.038 0.042 0.044 16 45 16 0.041 13 2 0 0 1 4.95 25872 chr6 90402482 90402482 G A rs9294445 MDN1 Nonsynonymous SNV H3423Y 0.465 0.417 0.534 185 546 160 0.474 157 120 28 39 40 0.001 25873 chr17 3926110 3926110 C G rs711177 ZZEF1 Nonsynonymous SNV E2369Q 0.049 0.068 0.068 12 58 26 0.031 20 1 2 0 0 21.3 25874 chr19 38189440 38189440 T C rs958305 ZNF607 Nonsynonymous SNV K530R 0.825 0.799 0.82 312 968 307 0.8 241 400 121 99 122 24.5 25875 chr6 39284574 39284574 A G rs9462527 KCNK16 Synonymous SNV F215F 0.009 0.003 0.007 6 10 1 0.015 2 0 0 0 0 4.047 25876 chr6 90402840 90402840 C G rs9351212 MDN1 Synonymous SNV L3303L 0.727 0.669 0.68 276 854 257 0.708 200 312 83 84 95 5.996 25877 chr19 38189616 38189616 T C rs2075284 ZNF607 Synonymous SNV T471T 0.825 0.805 0.82 313 968 309 0.803 241 400 123 99 123 0.014 25878 chr6 39325078 39325078 A G rs20455 KIF6 Nonsynonymous SNV W170R 0.434 0.406 0.34 157 510 156 0.403 100 104 31 14 29 drug response 0.114 25879 chr6 90418262 90418262 C T rs2026634 MDN1 Synonymous SNV T2617T 0.83 0.81 0.854 304 974 311 0.779 251 414 126 107 118 14.95 25880 chr17 40835922 40835922 A C rs2271029 CNTNAP1 Synonymous SNV R51R 0.49 0.497 0.507 171 575 191 0.438 149 138 45 39 43 Benign 0.371 25881 chr17 33288626 33288626 G C rs757428661 ZNF830 Nonsynonymous SNV R14P 0.009 0.005 0 0 10 2 0 0 0 0 0 0 27 25882 chr19 3820191 3820191 C T rs2301843 ZFR2 Nonsynonymous SNV A577T 0.393 0.388 0.391 158 461 149 0.405 115 94 29 23 29 2.506 25883 chr17 39411670 39411670 - ACCTGCTGCAGGACC rs540633489 KRTAP9-9 C18_W19insCRTTC 0.656 0.711 0.037 265 770 273 0.679 11 319 118 5 113 25884 chr6 90448092 90448092 C T rs4140446 MDN1 Nonsynonymous SNV S1559N 0.836 0.815 0.854 305 981 313 0.782 251 414 126 107 119 6.266 25885 chr17 40842848 40842848 C T rs142269872 CNTNAP1 Synonymous SNV I649I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.23 25886 chr6 39552752 39552752 T C rs370978090 KIF6 Nonsynonymous SNV I333M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 25.4 25887 chr19 38202516 38202516 A C rs2909097 ZNF607 Nonsynonymous SNV S2A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.03 25888 chr17 3999199 3999199 C T rs12947597 ZZEF1 Synonymous SNV A613A 0.147 0.185 0.136 51 173 71 0.131 40 11 7 2 5 18.23 25889 chr6 90455084 90455084 A G rs9359861 MDN1 Synonymous SNV H1362H 0.836 0.815 0.857 305 982 313 0.782 252 414 126 108 118 0.279 25890 chr6 39554061 39554061 G C rs146022097 KIF6 Synonymous SNV L322L 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 3.187 25891 chr19 3831449 3831449 G A rs2240232 ZFR2 Nonsynonymous SNV P235L 0.402 0.396 0.381 162 472 152 0.415 112 97 28 23 29 2.698 25892 chr17 3343519 3343519 T C rs17822627 SPATA22 Synonymous SNV E295E 0.199 0.208 0.167 64 234 80 0.164 49 27 10 4 7 0.009 25893 chr6 90459454 90459454 G A rs4053618 MDN1 Synonymous SNV A1141A 0.737 0.745 0.765 297 865 286 0.762 225 323 106 81 109 11.36 25894 chr19 38314767 38314767 A G rs2305105 LOC100631378 0 0 0.503 0 0 0 0 148 0 0 36 0 12.23 25895 chr6 90642358 90642358 G A rs3798789 BACH2 Synonymous SNV N765N 0.146 0.148 0.129 39 171 57 0.1 38 16 2 1 1 4.571 25896 chr19 3831525 3831525 C A rs2240233 ZFR2 Nonsynonymous SNV V210L 0.401 0.396 0.381 163 471 152 0.418 112 96 28 23 29 0.04 25897 chr17 38978766 38978771 TCCTCC - rs764555347 KRT10 G23_G24del 0.003 0 0 0 3 0 0 0 0 0 0 0 25898 chr6 90660319 90660319 T C rs9451298 BACH2 Synonymous SNV V502V 0.32 0.302 0.269 116 376 116 0.297 79 59 16 11 19 0.919 25899 chr19 3831765 3831765 G A rs2240235 ZFR2 Nonsynonymous SNV S164L 0.402 0.393 0.364 161 472 151 0.413 107 97 28 23 29 19.52 25900 chr6 90661576 90661576 T C rs2236181 BACH2 Synonymous SNV T83T 0.374 0.378 0.323 143 439 145 0.367 95 78 25 18 28 10.09 25901 chr17 4016096 4016096 T C rs74887186 ZZEF1 Synonymous SNV K291K 0.022 0.039 0.031 15 26 15 0.038 9 0 1 0 0 7.902 25902 chr6 93967851 93967851 C T rs345730 EPHA7 Synonymous SNV P687P 0.765 0.753 0.748 300 898 289 0.769 220 345 108 82 112 16.44 25903 chr17 39521045 39521045 C T rs61741660 KRT33B Synonymous SNV E361E 0.014 0.018 0.01 6 17 7 0.015 3 0 0 0 0 5.476 25904 chr19 38376485 38376485 T A rs10408510 WDR87 Nonsynonymous SNV H2609L 0.734 0.742 0.759 277 862 285 0.71 223 318 108 84 102 Benign 12.84 25905 chr6 39881102 39881102 A T rs7762875 MOCS1 Nonsynonymous SNV L152H 0.11 0.104 0.099 43 129 40 0.11 29 6 4 2 6 Benign 22.1 25906 chr17 40266939 40266939 G A rs17659391 KAT2A Synonymous SNV L664L 0.033 0.042 0.037 21 39 16 0.054 11 1 0 0 1 12.02 25907 chr6 93982124 93982124 A G rs345713 EPHA7 Synonymous SNV S447S 0.912 0.93 0.918 360 1071 357 0.923 270 491 166 125 166 1.78 25908 chr17 41245653 41245653 C T rs80356983 BRCA1 Nonsynonymous SNV S585N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 17.5 25909 chr19 38378107 38378107 G A rs60704260 WDR87 Synonymous SNV S2068S 0.174 0.198 0.173 79 204 76 0.203 51 16 6 5 7 Benign 9.636 25910 chr17 40341909 40341909 G A rs79309130 GHDC Nonsynonymous SNV R469C 0.026 0.044 0.024 17 30 17 0.044 7 0 0 0 1 11.81 25911 chr6 96053922 96053922 T A rs35772543 MANEA Nonsynonymous SNV F344I 0.069 0.057 0.061 30 81 22 0.077 18 3 1 2 1 28.8 25912 chr17 41246481 41246481 T C rs1799950 BRCA1 Nonsynonymous SNV Q309R 0.095 0.089 0.065 29 112 34 0.074 19 8 3 0 1 Benign 18.29 25913 chr19 38378539 38378539 G C rs10422056 WDR87 Nonsynonymous SNV N1924K 0.734 0.742 0.748 276 862 285 0.708 220 318 108 84 101 Benign 0.182 25914 chr6 96651740 96651740 A G rs3811069 FUT9 Nonsynonymous SNV T237A 0.991 0.997 0.993 384 1163 383 0.985 292 576 191 145 189 11.83 25915 chr17 33477242 33477242 G A rs80100968 UNC45B Synonymous SNV K127K 0.042 0.039 0.058 15 49 15 0.038 17 2 0 0 0 Benign 18.63 25916 chr19 38379446 38379446 C T rs6508750 WDR87 Nonsynonymous SNV R1622Q 0.454 0.477 0.452 174 533 183 0.446 133 123 44 35 36 Benign 12.76 25917 chr17 41597548 41597548 T G rs200286345 DHX8 Synonymous SNV P859P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.08 25918 chr17 3352294 3352294 A G rs1488689 SPATA22 Nonsynonymous SNV I117T 0.201 0.211 0.173 65 236 81 0.167 51 27 10 4 7 0.046 25919 chr6 97051593 97051593 G A rs35157931 FHL5 Nonsynonymous SNV R35H 0.054 0.036 0.034 15 63 14 0.038 10 0 0 0 0 10.2 25920 chr17 39346139 39346139 A G rs61743546 KRTAP9-1 Star tloss M1V 0.288 0.299 0.265 118 338 115 0.303 78 52 23 13 22 11.94 25921 chr19 38382328 38382328 C T rs953370 WDR87 Synonymous SNV P1086P 0.455 0.477 0.469 174 534 183 0.446 138 124 44 35 36 Benign 15.69 25922 chr19 38384421 38384421 C G rs3894129 WDR87 Nonsynonymous SNV G641A 0.734 0.742 0.759 276 862 285 0.708 223 318 108 84 101 Benign 10.37 25923 chr6 97058574 97058574 G A rs2252816 FHL5 Nonsynonymous SNV V211M 0.385 0.378 0.333 157 452 145 0.403 98 81 28 22 34 10.04 25924 chr19 38810744 38810744 C G rs142888784 KCNK6 Nonsynonymous SNV P52A 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 15.85 25925 chr17 3352331 3352331 C T rs1488690 SPATA22 Nonsynonymous SNV V105M 0.201 0.211 0.173 65 236 81 0.167 51 27 10 4 7 0.008 25926 chr6 97247566 97247566 T A rs392127 GPR63 Synonymous SNV T14T 0.123 0.146 0.136 48 144 56 0.123 40 7 3 3 4 0.272 25927 chr19 38861333 38861333 G A rs1052375 CATSPERG Synonymous SNV P1087P 0.636 0.557 0.592 238 747 214 0.61 174 238 60 57 80 4.962 25928 chr6 97677118 97677118 G A rs9481410 MMS22L Nonsynonymous SNV T281M 0.776 0.802 0.762 297 911 308 0.762 224 354 120 89 109 12.3 25929 chr19 38935280 38935280 A G rs2229139 RYR1 Synonymous SNV L198L 0.696 0.674 0.67 250 817 259 0.641 197 292 88 67 85 Benign/Likely benign 8.743 25930 chr19 38939408 38939408 T C rs10406027 RYR1 Synonymous SNV A359A 0.893 0.875 0.864 338 1048 336 0.867 254 467 144 110 149 Benign 2.894 25931 chr17 39114962 39114962 C T rs7213256 KRT39 Nonsynonymous SNV R456Q 0.223 0.211 0.238 82 262 81 0.21 70 27 8 7 5 21 25932 chr6 99283376 99283376 T G rs195860 POU3F2 Synonymous SNV G209G 0.77 0.82 0.813 307 904 315 0.787 239 342 131 98 117 0.045 25933 chr19 38946182 38946182 G A rs2288888 RYR1 Synonymous SNV S556S 0.745 0.693 0.728 253 875 266 0.649 214 335 89 79 85 Benign 10.93 25934 chr6 99374400 99374400 G A rs1011676 FBXL4 Synonymous SNV L155L 0.067 0.076 0.027 32 79 29 0.082 8 3 1 0 1 Benign 7.325 25935 chr6 41754573 41754573 - CTT rs140326303 PRICKLE4 L288_A289insL 0.57 0.484 0.575 212 669 186 0.544 169 179 40 48 54 25936 chr19 38949904 38949904 C T rs3745847 RYR1 Synonymous SNV P762P 0.716 0.677 0.704 253 840 260 0.649 207 308 85 74 85 Benign 13.83 25937 chr6 41773576 41773576 G C rs2185798 USP49 Synonymous SNV L382L 0.558 0.474 0.558 205 655 182 0.526 164 170 40 44 51 0.24 25938 chr17 39119942 39119942 G A rs17843020 KRT39 Synonymous SNV D215D 0.216 0.203 0.231 77 253 78 0.197 68 26 8 7 5 8.465 25939 chr6 99771540 99771540 T C rs221527 FAXC Synonymous SNV T80T 0.931 0.932 0.905 365 1093 358 0.936 266 508 166 119 170 5.436 25940 chr19 38956803 38956803 G A rs2228069 RYR1 Synonymous SNV T981T 0.694 0.664 0.66 256 815 255 0.656 194 295 90 63 87 Benign 14.53 25941 chr6 99817601 99817601 A G rs4144164 COQ3 Nonsynonymous SNV Y329H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.37 25942 chr17 41961451 41961451 T C rs231518 MPP2 0.876 0.917 0.901 340 1029 352 0.872 265 449 162 121 148 0.699 25943 chr19 39196736 39196736 G A rs11553600 ACTN4 Synonymous SNV P179P 0.266 0.255 0.289 113 312 98 0.29 85 44 10 9 18 Benign 15 25944 chr17 39122797 39122797 G A rs10491137 KRT39 Synonymous SNV N104N 0.221 0.206 0.235 82 259 79 0.21 69 27 8 7 5 0.444 25945 chr19 39196745 39196745 C T rs3745859 ACTN4 Synonymous SNV N182N 0.359 0.38 0.344 148 422 146 0.379 101 76 23 11 31 Benign 18.21 25946 chr6 99819379 99819379 T C rs6925344 COQ3 Nonsynonymous SNV S272G 0.802 0.786 0.789 307 942 302 0.787 232 375 120 90 125 6.874 25947 chr19 39224413 39224413 A G rs4801861 CAPN12 Synonymous SNV F629F 0.747 0.742 0.762 293 877 285 0.751 224 334 101 82 111 0.1 25948 chr17 39134528 39134528 G A rs16968862 KRT40 Nonsynonymous SNV S406L 0.191 0.188 0.228 77 224 72 0.197 67 23 8 6 4 23 25949 chr19 39228244 39228244 T C rs73038948 CAPN12 Nonsynonymous SNV T334A 0.259 0.253 0.289 109 304 97 0.279 85 43 10 8 17 23.3 25950 chr6 99825348 99825348 T C rs11548336 COQ3 Nonsynonymous SNV K134E 0.303 0.318 0.34 120 356 122 0.308 100 63 20 19 17 22.2 25951 chr17 39135084 39135084 A G rs8064733 KRT40 Nonsynonymous SNV W390R 0.382 0.352 0.323 148 448 135 0.379 95 76 33 17 28 0.003 25952 chr6 99883704 99883704 T C rs6570065 USP45 Nonsynonymous SNV N720S 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.551 25953 chr19 39233146 39233146 A G rs936524 CAPN12 Synonymous SNV A110A 0.735 0.729 0.745 291 863 280 0.746 219 323 97 78 109 7.907 25954 chr17 29162018 29162018 G A rs112921454 ATAD5 Nonsynonymous SNV E307K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.29 25955 chr17 42225547 42225547 A C rs227584 HROB Nonsynonymous SNV T126P 0.325 0.273 0.313 155 382 105 0.397 92 57 10 16 32 0.005 25956 chr19 39308190 39308190 C T rs15570 ECH1 Synonymous SNV S125S 0.201 0.18 0.177 65 236 69 0.167 52 19 5 5 7 Benign 12.05 25957 chr17 39135143 39135143 T C rs201414134 KRT40 Nonsynonymous SNV Q370R 0.005 0 0.003 0 6 0 0 1 0 0 0 0 24.8 25958 chr19 39360720 39360720 G A rs8110393 RINL Nonsynonymous SNV P402L 0.518 0.516 0.561 193 608 198 0.495 165 161 53 40 53 25.9 25959 chr17 39635194 39635194 G A rs12936485 KRT35 Synonymous SNV D255D 0.094 0.115 0.088 37 110 44 0.095 26 5 2 0 2 8.221 25960 chr6 100061624 100061624 - CCG rs112674667 PRDM13 P378_G379insP 0.229 0.234 0.082 97 269 90 0.249 24 28 9 7 13 25961 chr6 100964147 100964147 G C rs240780 ASCC3 Nonsynonymous SNV S1995C 0.678 0.661 0.616 235 796 254 0.603 181 266 88 55 69 19.95 25962 chr17 29167653 29167653 A C rs3764421 ATAD5 Nonsynonymous SNV N699H 0.068 0.047 0.102 35 80 18 0.09 30 9 2 1 2 23.8 25963 chr19 39364584 39364584 C T rs61747761 RINL Synonymous SNV L85L 0.193 0.161 0.139 60 226 62 0.154 41 17 4 3 7 9.311 25964 chr19 39367111 39367111 T C rs1001413 RINL Nonsynonymous SNV N24D 0.32 0.331 0.408 136 376 127 0.349 120 62 23 22 30 1.48 25965 chr17 39135214 39135214 T C rs8068970 KRT40 Synonymous SNV Q346Q 0.382 0.352 0.367 148 448 135 0.379 108 76 33 18 28 1.317 25966 chr17 42254011 42254011 C G rs7220138 ASB16-AS1, ASB16-AS1 0.303 0.253 0.31 153 356 97 0.392 91 53 10 15 32 5.187 25967 chr6 42074872 42074872 A C rs11758539 C6orf132 Nonsynonymous SNV S260A 0.078 0.081 0.044 31 92 31 0.079 13 4 1 1 5 22.4 25968 chr17 39643340 39643340 T G rs11657323 KRT36 Nonsynonymous SNV N357T 0.245 0.227 0.17 80 288 87 0.205 50 29 12 3 9 22.1 25969 chr19 39433299 39433299 A G rs8113389 FBXO17 Synonymous SNV Y262Y 0.669 0.68 0.673 275 785 261 0.705 198 267 89 68 99 0.025 25970 chr6 101094554 101094554 A G rs239239 ASCC3 Synonymous SNV P1190P 0.517 0.555 0.558 214 607 213 0.549 164 149 59 47 62 1.715 25971 chr19 39440918 39440918 T C rs2304117 FBXO17 Synonymous SNV P14P 0.428 0.411 0.405 155 502 158 0.397 119 114 35 27 24 3.959 25972 chr17 39137104 39137104 A G rs9908389 KRT40 Nonsynonymous SNV M303T 0.382 0.346 0.361 146 449 133 0.374 106 76 33 18 28 0.136 25973 chr17 42254281 42254281 A G rs7212573 ASB16 Nonsynonymous SNV T249A 0.313 0.26 0.289 150 367 100 0.385 85 51 10 15 31 5.719 25974 chr6 101166095 101166095 G A rs41288423 ASCC3 Synonymous SNV L645L 0.53 0.482 0.483 190 622 185 0.487 142 167 47 35 50 13.43 25975 chr19 39440966 39440966 T C rs2304118 FBXO17 Synonymous SNV L7L 0.411 0.385 0.388 144 482 148 0.369 114 114 35 26 24 7.239 25976 chr19 39590955 39590955 G A rs8110736 ACP7 Synonymous SNV P198P 0.653 0.672 0.673 243 767 258 0.623 198 242 82 64 74 14.64 25977 chr6 101296389 101296389 G A rs9390698 ASCC3 Nonsynonymous SNV L146F 0.399 0.417 0.432 167 468 160 0.428 127 83 37 27 34 13 25978 chr17 42254417 42254417 A G rs7212854 ASB16 Nonsynonymous SNV N294S 0.244 0.227 0.204 139 287 87 0.356 60 36 9 9 30 22.8 25979 chr19 3977486 3977486 A G rs36527 EEF2 Synonymous SNV Y730Y 0.74 0.768 0.772 292 869 295 0.749 227 333 113 88 111 Benign 0.01 25980 chr17 39137154 39137154 C G rs721958 KRT40 Nonsynonymous SNV E286D 0.382 0.346 0.364 146 449 133 0.374 107 76 33 18 28 25.5 25981 chr19 39789115 39789115 A G rs30461 IFNL1 Nonsynonymous SNV N188D 0.101 0.115 0.112 35 118 44 0.09 33 8 0 2 3 0.002 25982 chr17 41606033 41606033 G A rs34260468 ETV4 Nonsynonymous SNV R160C 0.013 0.013 0.014 3 15 5 0.008 4 0 0 0 0 35 25983 chr6 102503317 102503317 G A rs2227283 GRIK2 Synonymous SNV E808E 0.448 0.5 0.432 170 526 192 0.436 127 115 49 27 30 Likely benign 9.861 25984 chr17 42254527 42254527 T G rs7217858 ASB16 Nonsynonymous SNV S331A 0.313 0.26 0.276 154 368 100 0.395 81 54 10 15 32 2.202 25985 chr17 34072386 34072386 A G rs78157254 GAS2L2 Synonymous SNV S710S 0.027 0.042 0.007 7 32 16 0.018 2 1 0 0 0 0.112 25986 chr6 42185564 42185564 A C rs9471809 MRPS10 Synonymous SNV G8G 0.267 0.32 0.323 90 314 123 0.231 95 39 19 18 12 0.175 25987 chr19 3979408 3979408 A G rs36526 EEF2 Synonymous SNV H544H 0.74 0.768 0.769 292 869 295 0.749 226 333 113 88 111 Benign 0.008 25988 chr6 105821449 105821449 A G rs9486069 PREP Synonymous SNV Y130Y 0.313 0.365 0.262 107 367 140 0.274 77 56 28 8 19 0.831 25989 chr6 42185567 42185567 G T rs145290235 MRPS10 Nonsynonymous SNV F7L 0.015 0.01 0.003 6 18 4 0.015 1 0 0 0 0 0.002 25990 chr19 3982967 3982967 G A rs2230561 EEF2 Synonymous SNV R150R 0.089 0.102 0.119 54 104 39 0.138 35 5 3 2 4 11.53 25991 chr17 41907052 41907052 G A rs142229067 MPP3 Synonymous SNV I162I 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 15.13 25992 chr17 42255097 42255097 T C rs3826412 ASB16-AS1 0.325 0.276 0.316 156 382 106 0.4 93 57 11 17 32 9.834 25993 chr6 106959936 106959936 G C rs783420 CRYBG1 Nonsynonymous SNV G315A 0.09 0.099 0.085 18 106 38 0.046 25 4 1 1 0 6.338 25994 chr19 3983184 3983184 A G rs2230560 EEF2 Synonymous SNV H108H 0.091 0.107 0.136 56 107 41 0.144 40 6 4 3 4 0.015 25995 chr17 39137387 39137387 C T rs2010027 KRT40 Nonsynonymous SNV R235H 0.382 0.346 0.364 145 449 133 0.372 107 76 33 18 28 23 25996 chr17 41908981 41908981 C G MPP3 Nonsynonymous SNV E55D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.348 25997 chr6 42233518 42233518 C T rs17704222 TRERF1 Synonymous SNV G485G 0.062 0.06 0.041 23 73 23 0.059 12 3 3 0 0 15.36 25998 chr17 42287519 42287519 C T rs2071167 UBTF Synonymous SNV K496K 0.268 0.26 0.235 137 315 100 0.351 69 33 10 9 24 17.93 25999 chr19 39914748 39914748 G A rs31726 PLEKHG2 Nonsynonymous SNV R933K 0.521 0.529 0.51 209 612 203 0.536 150 158 54 37 54 5.263 26000 chr6 106959999 106959999 C G rs1340623 CRYBG1 Nonsynonymous SNV P336R 0.835 0.833 0.799 304 980 320 0.779 235 416 135 93 118 8.397 26001 chr6 42571346 42571346 A T rs16895863 UBR2 Synonymous SNV S184S 0.233 0.201 0.19 98 274 77 0.251 56 31 6 9 10 0.984 26002 chr17 34304605 34304605 C A rs79254649 CCL16 Nonsynonymous SNV Q120H 0.043 0.049 0.068 16 51 19 0.041 20 2 1 1 0 8.796 26003 chr17 42432394 42432394 G A rs766261027 FAM171A2 Synonymous SNV G396G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.783 26004 chr17 41926126 41926126 C T rs72836561 CD300LG Nonsynonymous SNV R82C 0.016 0.01 0.014 3 19 4 0.008 4 0 0 0 0 22.2 26005 chr17 39138712 39138712 G A rs4243257 KRT40 Synonymous SNV Y178Y 0.382 0.346 0.364 146 449 133 0.374 107 76 33 18 28 2.566 26006 chr19 39915637 39915637 G A rs31727 PLEKHG2 Synonymous SNV Q1288Q 0.591 0.607 0.541 229 694 233 0.587 159 204 70 47 64 11.31 26007 chr6 106987370 106987370 A C rs783396 CRYBG1 Nonsynonymous SNV E1196A 0.889 0.883 0.881 328 1044 339 0.841 259 468 149 113 135 12.43 26008 chr17 39139370 39139370 G A rs9908304 KRT40 Nonsynonymous SNV T153M 0.368 0.339 0.361 143 432 130 0.367 106 76 34 18 28 24.3 26009 chr17 34304680 34304680 C T rs74842203 CCL16 Synonymous SNV L95L 0.043 0.049 0.061 15 51 19 0.038 18 2 1 1 0 12.29 26010 chr19 39915758 39915758 C G rs31728 PLEKHG2 Nonsynonymous SNV P1329A 0.587 0.602 0.544 221 689 231 0.567 160 202 70 46 60 24.3 26011 chr6 106992464 106992464 A G rs1799693 CRYBG1 Synonymous SNV K1278K 0.891 0.888 0.888 328 1046 341 0.841 261 470 150 115 135 7.008 26012 chr17 39140221 39140221 C T rs1510068 KRT40 Nonsynonymous SNV S102N 0.382 0.346 0.364 146 449 133 0.374 107 76 33 18 28 0.416 26013 chr6 107019880 107019880 A G rs9486410 RTN4IP1 Synonymous SNV N294N 0.18 0.185 0.177 86 211 71 0.221 52 20 3 3 7 0.018 26014 chr17 42475983 42475983 G C rs936019 GPATCH8 Synonymous SNV T1076T 0.662 0.682 0.619 217 777 262 0.556 182 257 91 60 60 0.162 26015 chr19 39923952 39923952 G A rs17627 RPS16 Synonymous SNV G134G 0.233 0.271 0.224 88 274 104 0.226 66 25 13 12 11 8.493 26016 chr6 107076783 107076783 A T rs1987623 RTN4IP1 Synonymous SNV P38P 0.299 0.328 0.276 137 351 126 0.351 81 58 22 7 24 0.049 26017 chr19 39926509 39926509 A C rs17628 RPS16 Synonymous SNV S9S 0.394 0.365 0.323 151 463 140 0.387 95 95 24 22 29 0.811 26018 chr17 39140417 39140417 T C rs1510069 KRT40 Nonsynonymous SNV T37A 0.382 0.346 0.364 146 449 133 0.374 107 76 33 18 28 0.001 26019 chr6 107088231 107088231 C T rs36016898 QRSL1 Nonsynonymous SNV A11V 0.091 0.096 0.109 45 107 37 0.115 32 6 1 3 1 22.5 26020 chr19 39926521 39926521 G A rs17626 RPS16 Synonymous SNV G5G 0.396 0.365 0.306 151 465 140 0.387 90 97 24 22 29 13.47 26021 chr19 39944082 39944082 C T rs1130180 SUPT5H Synonymous SNV Y54Y 0.606 0.615 0.565 238 712 236 0.61 166 214 73 49 69 12.15 26022 chr17 39165174 39165174 G A rs112432710 KRTAP3-1 Synonymous SNV C51C 0.144 0.169 0.17 55 169 65 0.141 50 10 5 2 3 8.205 26023 chr19 39994711 39994711 T C rs1110627 DLL3 Nonsynonymous SNV L218P 0.616 0.615 0.548 242 723 236 0.621 161 222 74 52 72 Benign 1.341 26024 chr6 107113715 107113715 G A rs2015205 QRSL1 Synonymous SNV L475L 0.415 0.375 0.347 152 487 144 0.39 102 98 28 17 27 12.65 26025 chr6 107391396 107391396 G A rs3814073 BEND3 Synonymous SNV N333N 0.232 0.208 0.282 83 272 80 0.213 83 35 9 12 8 6.349 26026 chr19 39996027 39996027 C T rs2304214 DLL3 Synonymous SNV P343P 0.349 0.362 0.364 155 410 139 0.397 107 70 29 19 27 Benign 16.16 26027 chr6 107956095 107956095 A G rs9486659 SOBP Nonsynonymous SNV S683G 0.938 0.956 0.83 351 1101 367 0.9 244 539 182 119 171 Benign 4.055 26028 chr6 42824907 42824907 G A rs9471932 BICRAL Synonymous SNV A729A 0.034 0.047 0.054 18 40 18 0.046 16 0 0 0 0 16.07 26029 chr19 40023308 40023308 A G rs1123301 EID2B Synonymous SNV A45A 0.733 0.69 0.748 296 860 265 0.759 220 314 95 83 114 8.421 26030 chr6 42891022 42891022 G A rs9471966 PTCRA Nonsynonymous SNV V106I 0.285 0.263 0.303 115 335 101 0.295 89 49 17 11 16 27.2 26031 chr19 40030704 40030704 C T rs7252027 EID2 Nonsynonymous SNV A6T 0.251 0.302 0.245 97 295 116 0.249 72 36 23 10 11 23.4 26032 chr17 3970523 3970523 G T rs9891850 ZZEF1 Synonymous SNV G1363G 0.022 0.031 0.02 14 26 12 0.036 6 0 0 0 1 3.976 26033 chr6 108026455 108026455 A G rs1546960 SCML4 Synonymous SNV P156P 0.922 0.924 0.901 354 1082 355 0.908 265 499 164 120 160 4.57 26034 chr17 43171154 43171154 C T rs1132898 NMT1 Synonymous SNV L163L 0.172 0.174 0.173 86 202 67 0.221 51 18 9 5 8 14.29 26035 chr6 108029109 108029109 T C rs3734754 SCML4 Synonymous SNV P118P 0.183 0.203 0.197 65 215 78 0.167 58 12 11 4 4 1.745 26036 chr19 4013322 4013322 T C rs2289865 PIAS4 Synonymous SNV D143D 0.398 0.396 0.398 163 467 152 0.418 117 99 35 20 29 0.039 26037 chr6 42906384 42906384 G T rs9471969 CNPY3 Nonsynonymous SNV S142I 0.25 0.258 0.289 110 293 99 0.282 85 43 14 11 17 23.4 26038 chr6 108068003 108068003 C T rs6934505 SCML4 Nonsynonymous SNV R68Q 0.214 0.234 0.245 76 251 90 0.195 72 21 10 5 10 22.4 26039 chr19 40149297 40149297 T A rs1860134 LGALS16 Nonsynonymous SNV L97H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 26040 chr17 42170787 42170787 - CTCCTGCTGCCGCTTGGCTGCCAGCAT HDAC5 E141_L142insMLAAKRQQE 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 26041 chr19 40170053 40170053 G A rs8103033 LGALS17A 0 0 0.333 0 0 0 0 98 0 0 19 0 3.94 26042 chr6 108233929 108233929 G A rs675117 SEC63 Synonymous SNV N188N 0.805 0.792 0.827 319 945 304 0.818 243 391 126 100 131 Benign 7.53 26043 chr19 40174236 40174236 G A rs7258833 LGALS17A 0 0 0.643 0 0 0 0 189 0 0 62 0 2.044 26044 chr17 31266513 31266513 G T rs138518763 TMEM98 Nonsynonymous SNV K144N 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 19.32 26045 chr17 43319435 43319437 CCG - rs372669041 FMNL1 P612del 0.118 0.107 0.065 53 139 41 0.136 19 6 1 2 3 26046 chr19 40197924 40197924 T C rs4830 LGALS14 Nonsynonymous SNV C67R 0.609 0.591 0.643 248 715 227 0.636 189 214 62 62 82 0.02 26047 chr6 108243115 108243115 - GGG rs142388422 SEC63 0.595 0.615 0.578 239 699 236 0.613 170 185 74 34 69 26048 chr17 42327850 42327850 G A rs45519733 SLC4A1 Synonymous SNV Y904Y 0.019 0.013 0.024 7 22 5 0.018 7 0 0 0 0 Benign/Likely benign 0.531 26049 chr6 109517706 109517706 G A rs1146245 CCDC162P 0.417 0.378 0 172 489 145 0.441 0 99 30 0 42 3.858 26050 chr17 31415896 31415896 G T rs150592728 ASIC2 Synonymous SNV A273A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.476 26051 chr19 40199914 40199914 C G rs10755 LGALS14 Nonsynonymous SNV F127L 0.609 0.591 0.643 248 715 227 0.636 189 214 62 62 82 3.11 26052 chr6 109519611 109519611 G A rs396000 CCDC162P 0.417 0.38 0 173 490 146 0.444 0 99 30 0 42 1.227 26053 chr6 109519623 109519623 C T rs380774 CCDC162P 0.417 0.38 0 173 490 146 0.444 0 99 30 0 42 0.038 26054 chr19 40224986 40224986 A G rs384138 CLC Synonymous SNV N80N 0.598 0.589 0.633 241 702 226 0.618 186 207 61 59 79 0.002 26055 chr6 42946559 42946559 G C rs140486558 PEX6 Synonymous SNV T110T 0.01 0.003 0.01 10 12 1 0.026 3 0 0 0 0 Benign/Likely benign 4.099 26056 chr17 4337412 4337412 C G rs3809853 SPNS3 Synonymous SNV V50V 0.271 0.255 0.265 91 318 98 0.233 78 40 12 13 8 11.85 26057 chr6 109524939 109524939 G A rs427960 CCDC162P 0.353 0.32 0 147 415 123 0.377 0 69 22 0 30 1.872 26058 chr19 40225646 40225646 G A rs17608 CLC Nonsynonymous SNV A28V 0.599 0.589 0.633 241 703 226 0.618 186 208 61 59 79 0.059 26059 chr6 42980218 42980218 G T rs11751058 MEA1 Nonsynonymous SNV A170D 0.051 0.06 0.054 20 60 23 0.051 16 1 2 0 0 25.2 26060 chr6 109524979 109524979 G A rs399561 CCDC162P 0.358 0.323 0 147 420 124 0.377 0 69 22 0 30 2.526 26061 chr17 42431524 42431524 C T rs140882895 FAM171A2 Synonymous SNV L686L 0.093 0.091 0.078 30 109 35 0.077 23 5 2 0 1 4.209 26062 chr19 4028783 4028783 C T rs2289863 PIAS4 Synonymous SNV T246T 0.676 0.661 0.636 262 794 254 0.672 187 268 89 60 85 15.4 26063 chr6 109525045 109525045 A G rs449850 CCDC162P 0.338 0.318 0 145 397 122 0.372 0 69 22 0 30 0.018 26064 chr19 4033462 4033462 T C rs7255988 PIAS4 Synonymous SNV C342C 0.907 0.891 0.871 339 1065 342 0.869 256 481 153 109 148 0.447 26065 chr6 109548304 109548304 C T rs351726 CCDC162P 0.267 0.263 0 110 313 101 0.282 0 37 13 0 20 9.58 26066 chr19 40357683 40357683 T G rs759120 FCGBP Synonymous SNV A5210A 0.205 0.224 0.211 78 241 86 0.2 62 27 8 8 10 12.74 26067 chr6 109548713 109548713 C T rs59673 CCDC162P 0.261 0.255 0 107 306 98 0.274 0 36 13 0 19 18.04 26068 chr19 40363020 40363020 G A rs741143 FCGBP Nonsynonymous SNV A5017V 0.239 0.195 0.255 89 281 75 0.228 75 36 4 9 8 3.695 26069 chr6 109548837 109548837 A G rs351727 CCDC162P 0.282 0.271 0 115 331 104 0.295 0 40 14 0 20 0.004 26070 chr17 436105 436105 T C rs140376049 VPS53 Nonsynonymous SNV I659V 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign/Likely benign 12.81 26071 chr17 3195631 3195631 T C rs111595550 OR3A1 Synonymous SNV P82P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.127 26072 chr6 109583186 109583186 A G rs1040285 CCDC162P 0.72 0.711 0.714 286 845 273 0.733 210 316 92 74 104 4.668 26073 chr19 40363926 40363926 C G rs3746013 FCGBP Nonsynonymous SNV D4906H 0.239 0.198 0.255 89 281 76 0.228 75 36 5 9 8 16.95 26074 chr17 4389858 4389858 G A rs138084959 SPNS3 Nonsynonymous SNV R350Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.688 26075 chr17 42476409 42476409 G A rs3744427 GPATCH8 Synonymous SNV H934H 0.07 0.078 0.061 18 82 30 0.046 18 5 2 0 0 0.036 26076 chr6 109586062 109586062 C T rs949882 CCDC162P 0.313 0.315 0.255 132 367 121 0.338 75 51 24 9 29 14.58 26077 chr19 40364280 40364280 G A rs113103150 FCGBP Nonsynonymous SNV P4788S 0.034 0.029 0.027 12 40 11 0.031 8 0 0 0 1 22.9 26078 chr6 109764535 109764535 G T rs1476387 SMPD2 Nonsynonymous SNV R265S 0.418 0.438 0.418 184 491 168 0.472 123 101 38 27 53 0.001 26079 chr17 4458598 4458598 G C rs3809849 MYBBP1A Nonsynonymous SNV Q8E 0.146 0.12 0.163 62 171 46 0.159 48 15 4 1 7 0.012 26080 chr19 40366362 40366362 G C rs3855679 FCGBP Synonymous SNV L4624L 0.631 0.633 0.677 250 741 243 0.641 199 246 70 67 86 0.191 26081 chr6 109767930 109767930 G T rs9320288 MICAL1 Nonsynonymous SNV A672E 0.431 0.453 0.442 191 506 174 0.49 130 109 41 28 57 0.042 26082 chr19 40367862 40367862 T C rs6508920 FCGBP Synonymous SNV P4366P 0.509 0.492 0.582 201 598 189 0.515 171 221 59 61 72 0.099 26083 chr17 4461748 4461748 G A rs7215121 GGT6 Stop gain R120X 0.464 0.414 0.524 188 545 159 0.482 154 124 34 45 44 0.57 26084 chr19 40719076 40719076 T C rs1129156 MAP3K10 Synonymous SNV F606F 0.731 0.711 0.711 283 858 273 0.726 209 314 101 69 102 0.618 26085 chr6 109767931 109767931 C T rs59056467 MICAL1 Nonsynonymous SNV A672T 0.361 0.393 0.344 158 424 151 0.405 101 81 36 19 38 3.584 26086 chr17 39967442 39967442 T C rs13412 P3H4 Nonsynonymous SNV Q186R 0.307 0.286 0.303 114 361 110 0.292 89 56 17 11 21 7.284 26087 chr19 40720079 40720079 C T rs3746005 MAP3K10 Synonymous SNV D831D 0.722 0.711 0.701 279 848 273 0.715 206 305 100 68 100 16.77 26088 chr17 32953258 32953258 G A rs4795954 TMEM132E Synonymous SNV E60E 0.115 0.13 0.116 55 135 50 0.141 34 12 4 1 3 6.971 26089 chr19 407900 407900 A G rs10411998 C2CD4C Synonymous SNV A154A 0.729 0.74 0.731 288 856 284 0.738 215 321 103 74 111 0.048 26090 chr6 109768295 109768295 G A rs910730 MICAL1 Synonymous SNV Y650Y 0.417 0.438 0.418 182 489 168 0.467 123 100 38 27 52 0.082 26091 chr19 40875800 40875800 C G rs3745198 MIR6796 0.413 0.378 0.35 145 485 145 0.372 103 104 27 19 27 5.15 26092 chr6 43307861 43307861 G A rs10948072 ZNF318 Nonsynonymous SNV T1292I 0.136 0.13 0.146 64 160 50 0.164 43 8 4 1 5 0.112 26093 chr17 4463699 4463699 G A rs7216284 GGT6 Nonsynonymous SNV R40W 0.193 0.201 0.201 79 227 77 0.203 59 20 8 9 8 17.02 26094 chr19 40875810 40875810 C G rs3745199 MIR6796 0.413 0.378 0.35 145 485 145 0.372 103 104 27 19 27 3.626 26095 chr6 109775436 109775436 T C rs2277113 MICAL1 Synonymous SNV S7S 0.382 0.372 0.401 179 448 143 0.459 118 102 40 28 54 6.113 26096 chr17 33286615 33286615 G A rs747517292 CCT6B Synonymous SNV L64L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.15 26097 chr19 40886993 40886993 C T rs11670988 HIPK4 Nonsynonymous SNV R302Q 0.063 0.06 0.102 17 74 23 0.044 30 2 2 3 0 19.22 26098 chr6 109827716 109827716 C T rs2277114 AK9 Nonsynonymous SNV V1555I 0.405 0.411 0.391 181 475 158 0.464 115 95 38 24 50 5.109 26099 chr17 39661366 39661366 G C rs760134 KRT13 Nonsynonymous SNV A146G 0.059 0.063 0.058 20 69 24 0.051 17 2 0 0 0 Benign 0.001 26100 chr6 43336771 43336771 C T rs9381238 ZNF318 Synonymous SNV R111R 0.566 0.536 0.793 265 664 206 0.679 233 332 103 116 132 16.68 26101 chr17 42953409 42953409 A G rs2289674 EFTUD2 Synonymous SNV T219T 0.162 0.167 0.17 69 190 64 0.177 50 11 5 5 7 Benign 1.842 26102 chr17 4463796 4463796 G A rs7216474 GGT6 Synonymous SNV P7P 0.16 0.164 0.129 66 188 63 0.169 38 16 5 3 7 7.728 26103 chr6 43496662 43496662 A C rs1106841 XPO5 Synonymous SNV R893R 0.304 0.326 0.361 121 357 125 0.31 106 68 27 19 15 10.34 26104 chr17 42987512 42987512 G A rs78994946 GFAP Nonsynonymous SNV R430C 0.026 0.021 0.02 17 30 8 0.044 6 2 0 2 0 Benign 8.619 26105 chr17 35837060 35837060 C A rs762771118 TADA2A Synonymous SNV I435I 0.005 0.005 0 0 6 2 0 0 0 0 0 0 15.53 26106 chr19 40900865 40900865 C T rs268674 PRX Nonsynonymous SNV G1132R 0.899 0.922 0.929 349 1055 354 0.895 273 474 164 128 154 Benign 2.769 26107 chr6 109885475 109885475 G A rs10499052 AK9 Nonsynonymous SNV P815S 0.222 0.242 0.265 104 261 93 0.267 78 45 21 14 22 25.9 26108 chr6 43970658 43970658 T A rs115402675 C6orf223 0.043 0.06 0.048 21 50 23 0.054 14 0 0 0 1 6.644 26109 chr17 42989088 42989088 C T rs2289681 GFAP Synonymous SNV R286R 0.06 0.057 0.054 29 71 22 0.074 16 4 1 0 1 Benign 14.04 26110 chr19 40901011 40901011 G C rs3745202 PRX Nonsynonymous SNV P1083R 0.146 0.146 0.133 71 171 56 0.182 39 12 3 4 10 Benign/Likely benign 13.56 26111 chr6 109954252 109954252 C T rs1406957 AK9 Synonymous SNV L376L 0.683 0.721 0.66 275 802 277 0.705 194 274 100 65 96 10.03 26112 chr17 43004436 43004436 G A rs61739617 KIF18B Nonsynonymous SNV P775S 0.033 0.031 0.031 10 39 12 0.026 9 0 0 0 0 1.339 26113 chr6 110146303 110146303 G A rs1127771 FIG4 Synonymous SNV S853S 0.406 0.393 0.381 174 477 151 0.446 112 97 33 24 39 Benign 8.938 26114 chr19 40901496 40901496 T C rs268673 PRX Nonsynonymous SNV I921M 0.336 0.346 0.333 164 395 133 0.421 98 70 18 15 38 Benign 0.002 26115 chr17 4495682 4495682 G A rs4790654 SMTNL2 Synonymous SNV E142E 0.21 0.193 0.259 92 247 74 0.236 76 23 7 10 16 1.924 26116 chr6 110679413 110679413 A G rs62435951 METTL24 Synonymous SNV A21A 0.512 0.516 0.401 201 601 198 0.515 118 206 71 44 71 0.504 26117 chr17 43008970 43008970 T C rs17546822 KIF18B Nonsynonymous SNV Q518R 0.035 0.031 0.034 10 41 12 0.026 10 0 0 0 0 0.004 26118 chr17 35992180 35992180 G A rs370696391 DDX52 Nonsynonymous SNV T189M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 28.2 26119 chr6 44147821 44147821 A G rs34710081 CAPN11 Nonsynonymous SNV I521V 0.219 0.25 0.211 86 257 96 0.221 62 30 12 11 6 13.34 26120 chr19 40901604 40901604 A G rs268672 PRX Synonymous SNV P885P 0.512 0.479 0.473 221 601 184 0.567 139 163 43 33 67 Benign 0.002 26121 chr6 110714205 110714205 C T rs35697832 DDO Nonsynonymous SNV G154R 0.152 0.177 0.126 52 178 68 0.133 37 14 6 0 4 1.124 26122 chr17 4498611 4498611 G A rs12103697 SMTNL2 Synonymous SNV T326T 0.263 0.247 0.272 113 309 95 0.29 80 47 11 21 19 8.904 26123 chr19 40901614 40901614 A G rs268671 PRX Nonsynonymous SNV V882A 0.512 0.479 0.473 221 601 184 0.567 139 163 43 33 67 Benign 0.001 26124 chr17 3627456 3627456 T A rs11653889 HASPIN Nonsynonymous SNV V76E 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 17.31 26125 chr17 45234407 45234407 A - rs112848754 CDC27 Stop gain V136* 0.367 0.365 0 129 431 140 0.331 0 0 0 0 0 26126 chr17 39394711 39394725 GACCACCTGCTGCAG - rs373648251 KRTAP9-8 C140_C144del 0.115 0.13 0.071 60 135 50 0.154 21 11 2 2 4 26127 chr17 40065774 40065774 T G rs2304497 ACLY Nonsynonymous SNV E175D 0.068 0.094 0.082 24 80 36 0.062 24 5 0 1 0 0.038 26128 chr17 45234417 45234417 A G rs193061947 CDC27 Nonsynonymous SNV I132T 0.308 0.31 0 106 362 119 0.272 0 0 0 0 0 18.4 26129 chr6 111587266 111587266 T C rs11153279 MFSD4B Synonymous SNV D167D 0.657 0.69 0.697 269 771 265 0.69 205 253 91 72 94 0.001 26130 chr19 40904602 40904602 G A rs744389 PRX Synonymous SNV T102T 0.149 0.148 0.136 77 175 57 0.197 40 13 4 4 12 Benign/Likely benign 11.58 26131 chr19 40929363 40929363 T C rs268687 SERTAD1 Nonsynonymous SNV T31A 0.544 0.505 0.473 236 639 194 0.605 139 181 44 30 73 0.002 26132 chr6 111695073 111695073 C T rs455645 REV3L Synonymous SNV S1495S 0.794 0.815 0.837 307 932 313 0.787 246 364 128 105 124 11.04 26133 chr17 39406299 39406299 A G rs771057750 KRTAP9-4 Synonymous SNV T109T 0.008 0.005 0.075 0 9 2 0 22 0 0 0 0 0.002 26134 chr6 111695268 111695268 C T rs455732 REV3L Synonymous SNV V1430V 0.495 0.484 0.49 181 581 186 0.464 144 139 44 33 39 5.193 26135 chr17 45234420 45234420 T G rs78493795 CDC27 Nonsynonymous SNV Y131S 0.353 0.344 0 127 415 132 0.326 0 0 0 0 0 19.07 26136 chr17 4017695 4017695 T C rs138134000 ZZEF1 Nonsynonymous SNV Y255C 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 23.3 26137 chr19 40947448 40947448 A G rs2887292 SERTAD3 Synonymous SNV S180S 0.182 0.154 0.143 86 214 59 0.221 42 20 7 3 12 0.174 26138 chr19 41008049 41008049 A G rs814526 SPTBN4 Synonymous SNV V304V 0.399 0.417 0.323 153 468 160 0.392 95 83 34 14 28 5.916 26139 chr17 39406343 39406343 A G rs76766237 KRTAP9-4 Nonsynonymous SNV N124S 0.064 0.065 0.105 17 75 25 0.044 31 0 0 0 0 0.001 26140 chr6 111695887 111695887 G A rs462779 REV3L Nonsynonymous SNV T1224I 0.794 0.815 0.83 307 932 313 0.787 244 364 128 104 124 6.577 26141 chr19 41012190 41012190 C T rs7258094 SPTBN4 Synonymous SNV D571D 0.222 0.216 0.194 77 261 83 0.197 57 36 9 7 6 13.1 26142 chr17 40257163 40257163 T C rs2074158 DHX58 Nonsynonymous SNV Q425R 0.127 0.141 0.184 40 149 54 0.103 54 8 4 7 2 0.001 26143 chr19 41038574 41038574 G A rs814501 SPTBN4 Nonsynonymous SNV G7S 0.493 0.518 0.452 193 579 199 0.495 133 147 50 34 52 22.6 26144 chr17 45451894 45451894 G A rs4968318 EFCAB13 Nonsynonymous SNV V216I 0.662 0.617 0.554 260 777 237 0.667 163 262 75 54 89 0.001 26145 chr6 111695899 111695899 G A rs3218600 REV3L Nonsynonymous SNV S1220L 0.038 0.034 0.02 9 45 13 0.023 6 2 1 0 0 24.1 26146 chr19 41082868 41082868 T C rs16974365 SHKBP1 Synonymous SNV I21I 0.143 0.12 0.18 74 168 46 0.19 53 16 4 8 14 9.458 26147 chr17 40263458 40263458 T C rs34891485 DHX58 Nonsynonymous SNV T76A 0.021 0.016 0.02 4 25 6 0.01 6 0 0 0 0 0.004 26148 chr17 44073916 44073916 G A rs145897970 MAPT Synonymous SNV P178P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.39 26149 chr17 39406419 39406419 T C rs151209798 KRTAP9-4 Synonymous SNV C149C 0.04 0.031 0.109 11 47 12 0.028 32 0 0 0 0 0.138 26150 chr19 41096189 41096189 A G rs396118 SHKBP1 Synonymous SNV T543T 0.493 0.474 0.52 206 579 182 0.528 153 136 37 43 58 0.056 26151 chr6 111696257 111696257 G A rs461646 REV3L Synonymous SNV L1101L 0.795 0.818 0.837 307 933 314 0.787 246 365 129 105 124 1.011 26152 chr17 44074018 44074018 G A rs11568305 MAPT Synonymous SNV P212P 0.092 0.096 0.071 37 108 37 0.095 21 26 8 5 8 Benign/Likely benign 12.11 26153 chr19 41173880 41173880 C T rs2604901 NUMBL Synonymous SNV Q400Q 0.605 0.63 0.446 238 710 242 0.61 131 210 75 47 69 2.956 26154 chr17 39406427 39406427 T C rs139224734 KRTAP9-4 Nonsynonymous SNV F152S 0.05 0.049 0.109 16 59 19 0.041 32 0 0 0 0 0.011 26155 chr6 111696852 111696852 T C rs458486 REV3L Synonymous SNV G902G 0.496 0.484 0.493 181 582 186 0.464 145 139 44 33 39 0.007 26156 chr17 40274873 40274873 A C rs1122326 HSPB9 Nonsynonymous SNV Q2P 0.17 0.188 0.214 61 199 72 0.156 63 18 11 11 4 23.2 26157 chr17 3635740 3635740 C G rs3744679 ITGAE Nonsynonymous SNV Q892H 0.05 0.06 0.058 19 59 23 0.049 17 2 1 1 1 24.4 26158 chr19 41173893 41173898 TGCTGT - rs141662737 NUMBL Q404_Q405del 0.578 0.586 0.412 224 678 225 0.574 121 180 58 40 57 26159 chr6 111901453 111901453 G T rs1043730 TRAF3IP2 Nonsynonymous SNV H323Q 0.799 0.773 0.765 296 938 297 0.759 225 377 117 85 111 Benign 11.13 26160 chr19 41209477 41209477 C T rs11538385 COQ8B Synonymous SNV A215A 0.261 0.305 0.282 108 307 117 0.277 83 39 14 14 16 Benign 14.96 26161 chr17 40280291 40280291 G A rs2230326 RAB5C Synonymous SNV A143A 0.128 0.138 0.17 42 150 53 0.108 50 13 10 7 3 16.98 26162 chr19 41211056 41211056 T C rs3865452 COQ8B Nonsynonymous SNV H133R 0.514 0.49 0.507 189 604 188 0.485 149 157 43 38 46 Benign 0.761 26163 chr6 112457390 112457390 C T rs2032567 LAMA4 Nonsynonymous SNV G1117S 0.635 0.664 0.663 262 745 255 0.672 195 236 87 65 89 Benign 18.04 26164 chr17 45786452 45786452 C T rs4794057 TBKBP1 Synonymous SNV H451H 0.353 0.276 0.357 133 414 106 0.341 105 159 40 34 47 17.27 26165 chr19 41255500 41255500 C G rs2254343 C19orf54 Nonsynonymous SNV R70P 0.757 0.727 0.69 290 889 279 0.744 203 331 98 78 108 21.7 26166 chr17 45811210 45811210 A G rs2074190 TBX21 Synonymous SNV G130G 0.273 0.315 0.371 119 321 121 0.305 109 51 15 22 21 11.36 26167 chr6 44310854 44310854 G A rs10948132 SPATS1 Nonsynonymous SNV G8R 0.223 0.24 0.262 92 262 92 0.236 77 28 13 9 9 23.2 26168 chr17 36491083 36491083 C T rs4550493 GPR179 Nonsynonymous SNV R493H 0.035 0.026 0.031 12 41 10 0.031 9 0 1 1 0 Benign 19.78 26169 chr6 112480041 112480041 A G rs3752577 LAMA4 Synonymous SNV S570S 0.067 0.036 0.048 35 79 14 0.09 14 2 1 0 0 Benign 7.451 26170 chr17 36666611 36666611 G A rs143133682 ARHGAP23 Synonymous SNV A1293A 0.057 0.049 0.061 28 67 19 0.072 18 0 1 1 0 12.86 26171 chr19 4154910 4154910 C T rs35474881 CREB3L3 Synonymous SNV A14A 0.198 0.195 0.167 64 233 75 0.164 49 21 3 5 4 10.44 26172 chr6 112493872 112493872 A G rs1050348 LAMA4 Nonsynonymous SNV Y498H 0.668 0.716 0.622 280 784 275 0.718 183 248 102 56 99 Benign 2.212 26173 chr17 39883350 39883350 G A rs4523977 HAP1 Nonsynonymous SNV T424M 0.193 0.193 0.194 90 227 74 0.231 57 30 9 8 9 0.093 26174 chr17 45885756 45885756 C T rs9911983 OSBPL7 Synonymous SNV T810T 0.566 0.594 0.585 221 664 228 0.567 172 199 69 49 65 15.57 26175 chr19 4164623 4164623 C G rs199855279 CREB3L3 Nonsynonymous SNV L233V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.35 26176 chr17 4495740 4495740 G A rs12449695 SMTNL2 Nonsynonymous SNV A162T 0.329 0.341 0.333 118 386 131 0.303 98 67 21 18 18 8.222 26177 chr17 36707545 36707545 C T rs200202006 SRCIN1 Synonymous SNV E936E 0.007 0.003 0.014 4 8 1 0.01 4 0 0 0 0 14.07 26178 chr6 112508769 112508769 T G rs9387061 LAMA4 Synonymous SNV A283A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 9.714 26179 chr6 44982593 44982593 G A rs12528232 SUPT3H Synonymous SNV I17I 0.056 0.047 0.139 22 66 18 0.056 41 17 3 3 7 13.36 26180 chr17 39883559 39883559 G A rs33914436 HAP1 Synonymous SNV S442S 0.369 0.333 0.282 147 433 128 0.377 83 89 23 13 32 7.558 26181 chr19 41700493 41700493 G C rs338599 CYP2S1 Synonymous SNV P74P 0.946 0.945 0.946 374 1111 363 0.959 278 527 171 132 180 9.246 26182 chr17 36508420 36508420 C T rs201577908 SOCS7 Nonsynonymous SNV A162V 0.009 0.003 0.014 1 11 1 0.003 4 0 0 1 0 24.6 26183 chr19 41743861 41743861 A G rs7249222 AXL Nonsynonymous SNV N266D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.051 26184 chr6 45390511 45390511 G A rs6921145 RUNX2 Synonymous SNV A66A 0.093 0.068 0.088 43 109 26 0.11 26 5 2 2 2 Benign 19.21 26185 chr6 112508770 112508770 G T rs9400522 LAMA4 Nonsynonymous SNV A283E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 23.7 26186 chr6 46047458 46047458 C T rs3734207 CLIC5 Synonymous SNV E174E 0.157 0.185 0.19 59 184 71 0.151 56 15 9 4 4 Benign 9 26187 chr19 4180836 4180836 C T rs352493 SIRT6 Nonsynonymous SNV S46N 0.925 0.938 0.956 359 1086 360 0.921 281 503 171 134 164 2.973 26188 chr17 36878166 36878166 G A rs369528342 MLLT6 Synonymous SNV S826S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.49 26189 chr6 46107752 46107752 C G rs7451713 ENPP4 Nonsynonymous SNV H144Q 0.589 0.594 0.575 218 691 228 0.559 169 219 71 47 60 10.07 26190 chr6 112512905 112512905 G A rs2072021 LAMA4 Synonymous SNV T217T 0.124 0.117 0.085 52 145 45 0.133 25 12 3 2 5 Benign 10.8 26191 chr19 41811730 41811730 T C rs12745 HNRNPUL1 Synonymous SNV T715T 0.995 0.99 0.878 385 1168 380 0.987 258 581 188 126 190 3.555 26192 chr6 112522852 112522852 G A rs11757455 LAMA4 Nonsynonymous SNV R154W 0.083 0.096 0.095 29 98 37 0.074 28 2 3 3 0 Benign 34 26193 chr6 46129345 46129345 G A rs2235881 ENPP5 Synonymous SNV T290T 0.589 0.594 0.575 217 691 228 0.556 169 219 71 48 59 12.37 26194 chr19 41858921 41858921 G A rs1800470 TGFB1 Nonsynonymous SNV P10L 0.519 0.534 0.507 221 609 205 0.567 149 158 49 43 59 Benign 18.03 26195 chr17 46022065 46022065 G A rs17679445 PNPO Nonsynonymous SNV R116Q 0.089 0.076 0.082 33 105 29 0.085 24 3 1 1 0 Benign/Likely benign 31 26196 chr6 46135489 46135489 T C rs6926570 ENPP5 Nonsynonymous SNV I77V 0.586 0.591 0.571 218 688 227 0.559 168 217 70 47 60 22.6 26197 chr17 4536241 4536241 T C rs743646 ALOX15 Synonymous SNV T485T 0.159 0.18 0.119 67 187 69 0.172 35 16 3 5 9 1.856 26198 chr6 112671611 112671611 G A rs11153361 RFPL4B Nonsynonymous SNV G234D 0.268 0.279 0.313 115 315 107 0.295 92 45 17 14 18 0.001 26199 chr19 41869392 41869392 T C rs2241714 B9D2 Nonsynonymous SNV I11M 0.615 0.609 0.578 236 722 234 0.605 170 218 70 50 69 Benign 8.988 26200 chr17 39890876 39890876 T C rs4796604 HAP1 Nonsynonymous SNV K4R 0.369 0.328 0.401 158 433 126 0.405 118 105 28 24 38 12.03 26201 chr17 45368337 45368337 A C rs15908 ITGB3 Synonymous SNV V381V 0.377 0.448 0.442 150 443 172 0.385 130 88 37 24 28 Benign 0.017 26202 chr17 37224094 37224094 C T rs61745967 PLXDC1 Synonymous SNV X501X 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 15.86 26203 chr17 46023694 46023694 G A rs4378657 PNPO Synonymous SNV L184L 0.102 0.104 0.109 34 120 40 0.087 32 4 2 2 0 Benign/Likely benign 17.11 26204 chr19 41932275 41932275 T C rs284662 B3GNT8 Nonsynonymous SNV S137G 0.613 0.62 0.588 242 720 238 0.621 173 218 69 47 76 0.018 26205 chr17 45369777 45369777 A G rs4642 ITGB3 Synonymous SNV E511E 0.272 0.331 0.303 105 319 127 0.269 89 47 20 13 10 Benign 2.772 26206 chr6 46135984 46135984 G T rs3806995 ENPP5 Nonsynonymous SNV L6I 0.583 0.583 0.565 215 685 224 0.551 166 218 70 47 59 7.322 26207 chr6 114378970 114378970 C T rs2282237 HS3ST5 Synonymous SNV E164E 0.334 0.346 0.347 140 392 133 0.359 102 56 22 21 21 6.64 26208 chr17 36830459 36830459 G A rs111565436 EPOP Nonsynonymous SNV P97L 0.187 0.159 0.19 76 220 61 0.195 56 24 6 6 10 11.1 26209 chr19 41939297 41939297 C G rs1043413 DMAC2 Nonsynonymous SNV C132S 0.413 0.393 0.429 157 485 151 0.403 126 98 25 23 33 11.03 26210 chr17 45369789 45369789 G A rs4634 ITGB3 Synonymous SNV R515R 0.272 0.331 0.303 105 319 127 0.269 89 47 20 13 10 Benign 5.411 26211 chr6 116325142 116325142 C T rs3756772 FRK Nonsynonymous SNV G122R 0.434 0.43 0.486 153 509 165 0.392 143 126 36 38 21 21.9 26212 chr17 46262171 46262171 C T rs2278868 SKAP1 Nonsynonymous SNV G161S 0.55 0.568 0.517 213 646 218 0.546 152 173 67 40 66 15.9 26213 chr17 3992126 3992126 C G rs760774842 ZZEF1 Nonsynonymous SNV G696A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 26214 chr19 41944237 41944237 T C rs2231940 DMAC2 Nonsynonymous SNV N40S 0.411 0.388 0.415 157 482 149 0.403 122 97 23 22 33 0.001 26215 chr6 116446576 116446576 A G rs1064583 COL10A1 Nonsynonymous SNV M27T 0.393 0.383 0.316 160 461 147 0.41 93 95 28 16 26 Benign 0.087 26216 chr17 45447832 45447832 A G rs55853213 EFCAB13 Nonsynonymous SNV I183V 0.06 0.076 0.048 31 70 29 0.079 14 2 0 0 2 0.008 26217 chr19 4200156 4200156 G A rs2052191 ANKRD24 Nonsynonymous SNV A111T 0.45 0.461 0.415 174 528 177 0.446 122 123 36 25 40 0.232 26218 chr6 116574455 116574455 G A rs2232472 TSPYL4 Synonymous SNV H239H 0.401 0.37 0.422 144 471 142 0.369 124 97 26 23 22 7.116 26219 chr19 42083849 42083849 C A rs714106 CEACAM21 Nonsynonymous SNV T121N 0.725 0.724 0.704 297 851 278 0.762 207 310 98 74 112 23.1 26220 chr6 116575083 116575083 C A rs2232470 TSPYL4 Nonsynonymous SNV R30L 0.693 0.695 0.711 249 813 267 0.638 209 276 92 73 75 6.094 26221 chr17 45468842 45468842 A T rs72825679 EFCAB13 Nonsynonymous SNV D445V 0.059 0.073 0.051 31 69 28 0.079 15 2 0 1 2 24.7 26222 chr17 41343524 41343524 T A NBR1 Nonsynonymous SNV N312K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.2 26223 chr19 42085873 42085873 A G rs2302188 CEACAM21 Nonsynonymous SNV M198V 0.732 0.734 0.714 301 859 282 0.772 210 314 101 77 115 0.004 26224 chr6 46675860 46675860 C T rs200128572 PLA2G7 Nonsynonymous SNV G303D 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 6.548 26225 chr6 116600465 116600465 - CAC rs397735194 TSPYL1 V176_K177insV 0.682 0.685 0.68 250 801 263 0.641 200 271 89 71 76 26226 chr17 46607817 46607817 C T rs7207109 HOXB1 Synonymous SNV A150A 0.201 0.216 0.245 85 236 83 0.218 72 30 6 12 10 12.02 26227 chr17 41901366 41901366 G T rs189143886 MPP3 Nonsynonymous SNV S231Y 0.008 0.013 0.01 1 9 5 0.003 3 0 0 0 0 28.9 26228 chr17 45490251 45490251 C T rs3883318 EFCAB13 Synonymous SNV F701F 0.082 0.083 0.085 41 96 32 0.105 25 3 0 1 3 8.23 26229 chr6 116600774 116600774 C G rs3749895 TSPYL1 Nonsynonymous SNV A74P 0.368 0.37 0.408 127 432 142 0.326 120 84 22 20 18 0.021 26230 chr17 46607958 46607958 T A rs12939811 HOXB1 Nonsynonymous SNV Q103H 0.181 0.201 0.207 76 212 77 0.195 61 24 6 10 10 0.063 26231 chr6 46726500 46726500 C A rs9472839 ANKRD66 Nonsynonymous SNV Q200K 0.096 0.156 0.136 45 113 60 0.115 40 5 9 3 4 14.57 26232 chr19 42092815 42092815 T A rs3745936 CEACAM21 0 0 0.752 0 0 0 0 221 0 0 83 0 0.945 26233 chr17 45735975 45735975 G A rs1136613 KPNB1 Synonymous SNV T50T 0.04 0.026 0.017 13 47 10 0.033 5 1 0 0 1 14.41 26234 chr6 46793175 46793175 G A rs6920863 MEP1A Synonymous SNV Q241Q 0.423 0.44 0.446 182 497 169 0.467 131 106 44 28 41 6.837 26235 chr19 4210356 4210356 G A rs12978469 ANKRD24 Nonsynonymous SNV R349Q 0.54 0.526 0.544 224 634 202 0.574 160 174 51 43 64 23.2 26236 chr17 45750468 45750468 T C rs1136614 KPNB1 Synonymous SNV Y399Y 0.04 0.034 0.017 13 47 13 0.033 5 1 0 0 1 3.109 26237 chr17 46608030 46608030 G A rs12946855 HOXB1 Synonymous SNV S79S 0.2 0.214 0.245 85 235 82 0.218 72 30 6 12 10 9.788 26238 chr6 116600810 116600810 G A rs3828743 TSPYL1 Nonsynonymous SNV P62S 0.326 0.31 0.361 118 383 119 0.303 106 65 15 15 15 1.43 26239 chr17 46608184 46608184 - GGGCGCTGT rs145570960 HOXB1 A27_P28insHSA 0.2 0.216 0.235 85 235 83 0.218 69 30 6 12 10 26240 chr19 42125660 42125660 T C rs1041994 CEACAM4 Synonymous SNV P220P 0.629 0.615 0.66 259 738 236 0.664 194 249 74 64 85 0.409 26241 chr19 4216318 4216318 G T rs45510899 ANKRD24 Synonymous SNV S436S 0.105 0.107 0.099 38 123 41 0.097 29 7 0 0 0 3.997 26242 chr6 116720487 116720487 C T rs10485183 DSE Nonsynonymous SNV T25I 0.311 0.38 0.282 127 365 146 0.326 83 55 36 12 16 Benign 15.02 26243 chr17 45786621 45786621 G A rs80267077 TBKBP1 Nonsynonymous SNV A508T 0.125 0.135 0.126 60 147 52 0.154 37 9 3 1 3 21.7 26244 chr19 4216910 4216910 G A rs10413818 ANKRD24 Nonsynonymous SNV E585K 0.679 0.672 0.697 270 797 258 0.692 205 275 82 73 91 4.574 26245 chr6 46851858 46851858 T C rs115136473 ADGRF5 Nonsynonymous SNV N160S 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 0.002 26246 chr17 46670520 46670520 T C rs7406798 HOXB5 Synonymous SNV Q175Q 0.983 0.992 0.575 386 1154 381 0.99 169 567 189 84 191 0.031 26247 chr6 116783390 116783390 A G rs10784 CALHM6 Nonsynonymous SNV T100A 0.706 0.714 0.67 263 829 274 0.674 197 354 119 75 104 0.001 26248 chr19 4217207 4217207 T G rs353693 ANKRD24 Nonsynonymous SNV S684A 0.924 0.922 0.915 364 1085 354 0.933 269 506 162 125 169 0.005 26249 chr17 45810919 45810919 C G rs2240017 TBX21 Nonsynonymous SNV H33Q 0.043 0.034 0.02 13 51 13 0.033 6 0 1 0 1 6.881 26250 chr17 37682331 37682331 C T rs139095098 CDK12 Synonymous SNV A1174A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 13.48 26251 chr19 42190859 42190859 A T rs8102488 CEACAM7 Nonsynonymous SNV F120I 0.427 0.414 0.347 151 501 159 0.387 102 103 32 19 31 0.003 26252 chr6 116783619 116783619 T G rs117361304 CALHM6 0.044 0.039 0.051 21 52 15 0.054 15 1 1 0 1 25.4 26253 chr17 46690777 46690777 A G rs45441492 HOXB8 Synonymous SNV R173R 0.056 0.063 0.102 27 66 24 0.069 30 1 1 1 1 10.77 26254 chr19 42221607 42221607 A G rs7249230 CEACAM5 Nonsynonymous SNV K398E 0.776 0.75 0.782 295 911 288 0.756 230 351 107 88 108 0.014 26255 chr6 116866658 116866658 C T rs186298269 TRAPPC3L Nonsynonymous SNV R7Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.6 26256 chr19 42399462 42399462 G A rs181351585 ARHGEF1 Synonymous SNV G273G 0 0 0.007 0 0 0 0 2 0 0 0 0 1.208 26257 chr17 46805590 46805590 G A rs8556 HOXB13 Synonymous SNV S122S 0.147 0.159 0.146 57 173 61 0.146 43 14 6 2 4 Benign 6.075 26258 chr6 116938232 116938232 C G rs13213314 RSPH4A Nonsynonymous SNV T149S 0.092 0.094 0.102 31 108 36 0.079 30 3 3 2 3 Benign 0.027 26259 chr17 45890707 45890707 C T rs2301690 OSBPL7 Synonymous SNV K554K 0.36 0.341 0.395 146 423 131 0.374 116 86 23 24 30 16.86 26260 chr19 42489516 42489516 A C rs2217342 ATP1A3 Synonymous SNV T233T 0.851 0.833 0.854 306 999 320 0.785 251 421 133 108 124 Benign/Likely benign 0.003 26261 chr19 42703833 42703833 A G rs2303652 DEDD2 Synonymous SNV S246S 0.112 0.122 0.153 58 131 47 0.149 45 3 3 2 7 1.896 26262 chr6 47626833 47626833 C A rs12201065 ADGRF2 Nonsynonymous SNV P71H 0.463 0.461 0.476 180 544 177 0.462 140 124 45 29 33 8.617 26263 chr17 3433458 3433458 G A rs116535534 TRPV3 Nonsynonymous SNV R369W 0.018 0.013 0.003 1 21 5 0.003 1 0 0 0 0 Likely benign 27 26264 chr17 37879588 37879588 A G rs1136201 ERBB2 Nonsynonymous SNV I655V 0.164 0.169 0.146 77 192 65 0.197 43 16 4 7 8 Benign 13.7 26265 chr17 42152103 42152103 G A rs3815076 G6PC3 Synonymous SNV T127T 0.081 0.063 0.092 38 95 24 0.097 27 3 1 1 2 Benign 13.03 26266 chr6 116950833 116950833 T C rs784133 RSPH4A Nonsynonymous SNV L589P 0.554 0.505 0.541 233 650 194 0.597 159 177 51 40 69 Benign 7.732 26267 chr19 42703950 42703950 G A rs149135613 DEDD2 Synonymous SNV C207C 0.008 0.016 0.02 0 9 6 0 6 0 0 0 0 11.02 26268 chr17 46878625 46878625 A G rs17634167 TTLL6 Synonymous SNV L201L 0.095 0.102 0.126 36 112 39 0.092 37 8 1 4 2 8.594 26269 chr19 42728836 42728836 T C rs3810151 ZNF526 Nonsynonymous SNV V94A 0.109 0.122 0.143 57 128 47 0.146 42 3 3 1 7 Likely benign 0.002 26270 chr6 47646842 47646842 A G rs6907125 ADGRF2 Nonsynonymous SNV Q148R 0.667 0.664 0.67 274 783 255 0.703 197 268 89 63 92 0.011 26271 chr6 117086378 117086378 C A rs654128 FAM162B Nonsynonymous SNV Q71H 0.217 0.26 0.156 96 255 100 0.246 46 22 10 1 8 19.81 26272 chr19 42736267 42736267 A G rs851609 GSK3A Synonymous SNV L440L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.311 26273 chr17 42169840 42169840 C T rs149570636 HDAC5 Synonymous SNV R277R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.66 26274 chr6 47649222 47649222 T G rs8180544 ADGRF2 Synonymous SNV S309S 0.668 0.667 0.67 274 784 256 0.703 197 269 89 63 92 0.363 26275 chr17 4693054 4693054 G A rs12951761 GLTPD2 Synonymous SNV E113E 0.463 0.448 0.415 173 543 172 0.444 122 118 40 27 39 7.086 26276 chr19 42753034 42753034 A G rs35493131 ERF Synonymous SNV A335A 0.089 0.117 0.129 40 104 45 0.103 38 1 2 1 2 0.008 26277 chr6 117113653 117113653 T C rs615199 GPRC6A Synonymous SNV P740P 0.432 0.445 0.388 182 507 171 0.467 114 128 37 22 37 0.004 26278 chr6 47649573 47649573 C T rs10807371 ADGRF2 Synonymous SNV S426S 0.666 0.667 0.67 274 782 256 0.703 197 267 89 63 92 8.31 26279 chr19 42753283 42753283 G A rs61735151 ERF Synonymous SNV S252S 0.084 0.112 0.122 41 99 43 0.105 36 1 1 0 2 5.095 26280 chr6 117114025 117114025 G A rs6901250 GPRC6A Synonymous SNV A616A 0.432 0.445 0.388 182 507 171 0.467 114 129 37 22 37 9.445 26281 chr19 42753649 42753649 G C rs11557114 ERF Synonymous SNV R130R 0.093 0.13 0.133 42 109 50 0.108 39 1 3 0 2 0.031 26282 chr6 47649574 47649574 A G rs10807372 ADGRF2 Nonsynonymous SNV K427E 0.666 0.667 0.67 274 782 256 0.703 197 267 89 63 92 7.996 26283 chr17 46020698 46020698 C T rs11079804 PNPO Synonymous SNV S55S 0.164 0.151 0.167 58 192 58 0.149 49 19 7 4 6 Benign 15.18 26284 chr19 42776574 42776574 T C rs10426306 CIC Synonymous SNV D213D 0.093 0.128 0.088 32 109 49 0.082 26 2 2 0 1 0.002 26285 chr6 117114223 117114223 T A rs6924002 GPRC6A Synonymous SNV T550T 0.432 0.445 0.388 182 507 171 0.467 114 129 37 22 37 5.651 26286 chr17 42254286 42254286 G A rs200176006 ASB16 Synonymous SNV A250A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.16 26287 chr19 42776580 42776580 T C rs10426310 CIC Synonymous SNV L215L 0.093 0.133 0.088 32 109 51 0.082 26 2 2 0 1 0.001 26288 chr6 117114403 117114403 G A rs6901971 GPRC6A Synonymous SNV H490H 0.825 0.81 0.786 331 968 311 0.849 231 394 127 89 137 0.006 26289 chr6 47649694 47649694 A G rs9381594 ADGRF2 Nonsynonymous SNV I467V 0.668 0.667 0.67 274 784 256 0.703 197 269 89 63 92 20.9 26290 chr19 42795554 42795554 T C rs10410185 CIC Synonymous SNV A878A 0.087 0.12 0.092 31 102 46 0.079 27 2 1 0 1 0.158 26291 chr6 117121894 117121894 G A rs6917467 GPRC6A Synonymous SNV H292H 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 9.682 26292 chr19 42799049 42799049 C T rs1052023 CIC Synonymous SNV I1511I 0.325 0.31 0.32 98 382 119 0.251 94 69 16 18 13 9.936 26293 chr6 47654742 47654742 A T rs9296573 ADGRF2 Synonymous SNV L626L 0.667 0.667 0.656 274 783 256 0.703 193 268 89 62 92 20.8 26294 chr6 117130704 117130704 G A rs2274911 GPRC6A Nonsynonymous SNV P91S 0.825 0.813 0.789 331 969 312 0.849 232 395 127 89 137 0.418 26295 chr19 4280162 4280162 C T rs933523035 SHD Synonymous SNV Y34Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 26296 chr19 42852480 42852480 G A rs1676211 MEGF8 Synonymous SNV V718V 0.089 0.117 0.095 29 104 45 0.074 28 3 1 0 0 19.14 26297 chr19 42852549 42852549 C T rs34922891 MEGF8 Synonymous SNV D741D 0.088 0.115 0.085 27 103 44 0.069 25 3 1 0 0 2.887 26298 chr6 117869491 117869491 G A rs210621 DCBLD1 Synonymous SNV G679G 0.697 0.703 0.714 293 818 270 0.751 210 291 94 75 115 4.861 26299 chr19 42853782 42853782 T C rs28621009 MEGF8 Synonymous SNV N743N 0.093 0.122 0.102 31 109 47 0.079 30 3 2 2 0 0.658 26300 chr6 118886961 118886961 G T rs3734382 CEP85L Nonsynonymous SNV P251T 0.71 0.755 0.68 257 834 290 0.659 200 295 105 65 85 0.001 26301 chr19 42857179 42857179 C T rs149155949 MEGF8 Synonymous SNV P1083P 0.087 0.117 0.085 27 102 45 0.069 25 3 2 0 0 11.1 26302 chr19 42858793 42858793 T C rs61995685 MEGF8 Synonymous SNV V1288V 0.087 0.115 0.085 27 102 44 0.069 25 3 1 0 0 6.379 26303 chr17 4712395 4712395 A T rs1132446 PLD2 Synonymous SNV R128R 0.279 0.286 0.279 118 327 110 0.303 82 42 22 15 23 0.116 26304 chr19 42863035 42863035 A G rs1206038 MEGF8 Nonsynonymous SNV K1691E 0.089 0.117 0.092 29 104 45 0.074 27 3 1 0 0 0.348 26305 chr6 118887303 118887303 T C rs3734381 CEP85L Nonsynonymous SNV S137G 0.517 0.557 0.497 195 607 214 0.5 146 160 55 34 45 0.002 26306 chr17 39974642 39974642 A G rs34764749 FKBP10 Nonsynonymous SNV K197R 0.022 0.016 0.027 3 26 6 0.008 8 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 26307 chr19 42880062 42880062 C T rs147216997 MEGF8 Nonsynonymous SNV P2491L 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 Likely benign 0.377 26308 chr6 119149149 119149149 C G rs284921 MCM9 Nonsynonymous SNV C558S 0.892 0.867 0.867 336 1047 333 0.862 255 465 144 111 145 0.911 26309 chr17 3839685 3839685 G A rs1062683 ATP2A3 Synonymous SNV D800D 0.198 0.219 0.177 74 233 84 0.19 52 22 10 4 10 11.41 26310 chr6 49479750 49479750 T C rs13193063 GLYATL3 Nonsynonymous SNV M16T 0.259 0.289 0.299 110 304 111 0.282 88 78 33 13 23 18.12 26311 chr17 47210506 47210506 C A rs7207403 B4GALNT2 Nonsynonymous SNV A40D 0.511 0.518 0.374 201 600 199 0.515 110 165 54 35 54 3.19 26312 chr17 3840928 3840928 A G rs3179783 ATP2A3 Synonymous SNV T701T 0.198 0.219 0.184 75 233 84 0.192 54 22 10 4 10 0.701 26313 chr19 4288332 4288332 A G rs888930 SHD Nonsynonymous SNV N270S 0.375 0.352 0.395 165 440 135 0.423 116 80 26 23 40 11.23 26314 chr6 119510941 119510941 C A rs2072890 MAN1A1 Synonymous SNV A478A 0.826 0.818 0.786 327 970 314 0.838 231 400 127 93 137 10.22 26315 chr17 424880 424880 G A rs16953156 VPS53 Synonymous SNV I728I 0.049 0.047 0.071 11 57 18 0.028 21 2 0 1 0 Benign 13.52 26316 chr6 49479775 49479775 A T rs1480615 GLYATL3 Synonymous SNV S24S 0.447 0.484 0.595 176 525 186 0.451 175 208 78 48 63 3.092 26317 chr6 121577370 121577370 T C rs7745023 TBC1D32 Nonsynonymous SNV I599V 0.566 0.518 0.534 206 664 199 0.528 157 189 46 47 54 0.139 26318 chr17 4722785 4722785 G A rs1052751 PLD2 Synonymous SNV L790L 0.206 0.169 0.15 65 242 65 0.167 44 26 4 1 7 11.64 26319 chr19 4292841 4292841 C G rs28477168 TMIGD2 Nonsynonymous SNV A82P 0.159 0.143 0.19 76 187 55 0.195 56 14 4 5 6 9.131 26320 chr17 42635716 42635716 T C rs35283843 FZD2 Synonymous SNV D220D 0.063 0.049 0.037 31 74 19 0.079 11 3 2 0 2 0.09 26321 chr17 4722876 4722876 G A rs3764897 PLD2 Nonsynonymous SNV G821S 0.187 0.161 0.184 69 219 62 0.177 54 21 5 5 6 19.65 26322 chr19 43013363 43013363 A G rs11666350 CEACAM1 Synonymous SNV Y397Y 0.136 0.182 0.16 61 160 70 0.156 47 10 5 2 3 0.002 26323 chr6 121620608 121620608 G T rs9387944 TBC1D32 Nonsynonymous SNV T375K 1 1 0.895 389 1174 384 0.997 263 587 192 131 194 16.99 26324 chr19 4306311 4306311 T C rs4807578 FSD1 Synonymous SNV R76R 0.649 0.654 0.602 273 762 251 0.7 177 241 86 52 95 3.319 26325 chr17 38552665 38552665 C G rs1804537 TOP2A Nonsynonymous SNV G1197A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 0.077 26326 chr19 43087484 43087484 A C rs1126458 CEACAM8 Nonsynonymous SNV L322V 0.144 0.182 0.173 63 169 70 0.162 51 10 5 4 5 0.001 26327 chr6 123101647 123101647 A G rs2243372 FABP7 Synonymous SNV R95R 0.588 0.544 0.585 232 690 209 0.595 172 210 63 47 72 0.341 26328 chr17 4726143 4726143 T G rs61759530 PLD2 Nonsynonymous SNV L918R 0.025 0.01 0.017 5 29 4 0.013 5 1 0 0 0 24.9 26329 chr19 4325433 4325433 G A rs1138253 STAP2 Synonymous SNV P313P 0.435 0.443 0.452 162 511 170 0.415 133 116 43 34 34 11.53 26330 chr6 123687288 123687288 A C rs2873479 TRDN Nonsynonymous SNV I439S 0.912 0.917 0.895 359 1071 352 0.921 263 487 161 118 165 Benign 7.345 26331 chr17 38643385 38643385 G A rs8071312 TNS4 Synonymous SNV S397S 0.035 0.039 0.007 14 41 15 0.036 2 0 0 0 0 6.492 26332 chr19 4327154 4327154 A C rs374601600 STAP2 Nonsynonymous SNV F244V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 26333 chr6 123699042 123699042 T C rs6901953 TRDN Synonymous SNV K397K 0.409 0.424 0.367 141 480 163 0.362 108 99 34 21 31 Benign 13.14 26334 chr19 4333711 4333711 C T rs7247504 STAP2 Nonsynonymous SNV D93N 0.624 0.615 0.616 235 733 236 0.603 181 228 75 59 79 0.003 26335 chr6 49701439 49701439 C A rs1864312 CRISP3 Nonsynonymous SNV A157S 0.52 0.529 0.425 207 610 203 0.531 125 164 57 22 57 10.56 26336 chr6 123833457 123833457 G C rs6902416 TRDN Nonsynonymous SNV L201V 0.729 0.716 0 298 856 275 0.764 0 355 111 0 124 Benign 0.705 26337 chr17 47390136 47390136 A G rs11654557 ZNF652 Synonymous SNV Y324Y 0.084 0.112 0.109 41 99 43 0.105 32 6 4 0 0 2.778 26338 chr17 46801724 46801724 T G rs3110599 PRAC2 Nonsynonymous SNV C34W 0.182 0.159 0.197 61 214 61 0.156 58 21 5 6 8 6.318 26339 chr19 4352959 4352959 A G rs11882587 MPND Synonymous SNV A199A 0.523 0.57 0.473 232 614 219 0.595 139 170 64 42 61 6.463 26340 chr17 47587819 47587819 C T rs2072446 NGFR Nonsynonymous SNV S205L 0.069 0.063 0.051 28 81 24 0.072 15 3 1 0 1 17.64 26341 chr17 4009040 4009040 G A rs143093880 ZZEF1 Synonymous SNV F447F 0.026 0.013 0.027 9 31 5 0.023 8 1 0 0 0 12.1 26342 chr19 4357555 4357555 A G rs4807583 MPND Synonymous SNV S353S 0.993 0.997 0.997 386 1166 383 0.99 293 579 191 146 191 2.092 26343 chr6 49701523 49701523 A G rs495335 CRISP3 Nonsynonymous SNV S129P 0.736 0.753 0.697 304 864 289 0.779 205 323 108 73 122 1.176 26344 chr6 125284457 125284457 T C rs9401790 RNF217 Nonsynonymous SNV V256A 0.826 0.844 0.85 313 970 324 0.803 250 399 135 105 128 10.16 26345 chr17 46805443 46805443 A G rs9900627 HOXB13 Synonymous SNV S171S 0.218 0.19 0.218 73 256 73 0.187 64 34 9 5 9 Benign 5.487 26346 chr19 43922061 43922061 A G rs3816438 TEX101 Synonymous SNV P141P 0.25 0.227 0.276 84 293 87 0.215 81 41 11 8 6 7.63 26347 chr17 42981239 42981239 - AGT rs35098586 FAM187A G14_L15insS 0.291 0.255 0.269 107 342 98 0.274 79 54 16 7 15 26348 chr19 43979589 43979589 G T rs1055099 PHLDB3 Synonymous SNV T632T 0.385 0.388 0.412 157 452 149 0.403 121 87 35 23 34 12.78 26349 chr6 126278230 126278230 G C rs2295005 HINT3 Nonsynonymous SNV G36A 0.415 0.443 0.425 172 487 170 0.441 125 96 37 31 37 0.01 26350 chr17 42981499 42981499 C T rs12937256 FAM187A Nonsynonymous SNV T101I 0.093 0.081 0.054 33 109 31 0.085 16 7 3 1 2 0.621 26351 chr6 50791221 50791221 G A rs757278342 TFAP2B Synonymous SNV P61P 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 13.66 26352 chr19 43983740 43983740 T C rs1133929 PHLDB3 Synonymous SNV P497P 0 0 0.507 0 0 0 0 149 0 0 58 0 0.529 26353 chr17 47783663 47783663 C T rs1135034 SLC35B1 Nonsynonymous SNV R14H 0.083 0.102 0.078 29 98 39 0.074 23 4 1 0 2 23.7 26354 chr17 35889884 35889884 C A SYNRG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.424 26355 chr17 40255743 40255743 T C rs112616358 DHX58 Nonsynonymous SNV Q546R 0.024 0.013 0.014 4 28 5 0.01 4 1 0 0 0 8.651 26356 chr19 44001379 44001379 T C rs11083711 PHLDB3 Nonsynonymous SNV Q239R 0.075 0.073 0.041 26 88 28 0.067 12 3 1 1 1 25.4 26357 chr6 126661502 126661502 G T rs41285260 CENPW Nonsynonymous SNV R28L 0.118 0.109 0.116 30 139 42 0.077 34 5 2 0 2 22.9 26358 chr17 42981654 42981654 A G rs3826425 FAM187A Nonsynonymous SNV K153E 0.3 0.253 0.286 120 352 97 0.308 84 46 13 10 17 0.001 26359 chr17 40257055 40257055 T C rs34016093 DHX58 Nonsynonymous SNV N461S 0.051 0.063 0.109 9 60 24 0.023 32 1 1 2 0 26.1 26360 chr19 44047550 44047550 T C rs3547 XRCC1 Synonymous SNV Q632Q 0.618 0.651 0.575 247 726 250 0.633 169 229 78 51 73 0.132 26361 chr19 44047826 44047826 T A rs2682557 XRCC1 Nonsynonymous SNV N576Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.82 26362 chr17 42982288 42982288 A G rs3744473 FAM187A Nonsynonymous SNV H364R 0.283 0.234 0.259 104 332 90 0.267 76 42 12 7 13 0.001 26363 chr6 127476516 127476516 G A rs1892172 RSPO3 Synonymous SNV L189L 0.458 0.451 0.493 187 538 173 0.479 145 118 35 38 46 10.06 26364 chr6 127768762 127768762 G A rs6902288 KIAA0408 Synonymous SNV N234N 0.573 0.565 0.541 222 673 217 0.569 159 187 61 40 60 2.176 26365 chr19 44055726 44055726 T C rs25487 XRCC1 Nonsynonymous SNV Q399R 0.652 0.651 0.673 253 766 250 0.649 198 249 80 72 82 drug response 9.117 26366 chr17 4796286 4796286 C T rs11556635 MINK1 Nonsynonymous SNV P738L 0.454 0.383 0.432 181 533 147 0.464 127 128 26 33 41 23.4 26367 chr17 42987524 42987524 T C rs9916491 GFAP Nonsynonymous SNV T426A 0.283 0.234 0.255 105 332 90 0.269 75 42 12 7 14 6.791 26368 chr6 127771452 127771452 T G rs3734447 KIAA0408 Nonsynonymous SNV S61R 0.579 0.568 0.544 223 680 218 0.572 160 191 62 42 61 0.042 26369 chr19 44057227 44057227 T C rs915927 XRCC1 Synonymous SNV P206P 0.395 0.365 0.395 157 464 140 0.403 116 87 22 34 25 0.097 26370 chr17 42990679 42990679 C T rs147404772 GFAP Synonymous SNV A246A 0.014 0.01 0.01 6 17 4 0.015 3 0 0 0 0 Benign 20.2 26371 chr17 4802329 4802329 G A rs33978919 CHRNE Synonymous SNV A431A 0.207 0.156 0.218 80 243 60 0.205 64 31 3 9 7 Benign 10.98 26372 chr19 44082791 44082791 T C rs12608635 PINLYP Synonymous SNV H40H 0.331 0.336 0.306 128 389 129 0.328 90 61 18 19 24 7.152 26373 chr6 127797179 127797179 G A rs3734448 SOGA3 Synonymous SNV A664A 0.25 0.258 0.238 78 293 99 0.2 70 48 9 11 7 12.07 26374 chr17 43011778 43011778 G A rs199812494 KIF18B Synonymous SNV D236D 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 9.119 26375 chr19 44085827 44085827 C T rs11407 PINLYP Synonymous SNV C63C 0.177 0.156 0.218 62 208 60 0.159 64 17 4 7 4 11.94 26376 chr17 4803711 4803711 G A rs35400274 C17orf107 Stop gain W152X 0.214 0.156 0.224 82 251 60 0.21 66 33 3 10 7 36 26377 chr6 127797374 127797374 G A rs3734450 SOGA3 Synonymous SNV N599N 0.245 0.258 0.228 77 288 99 0.197 67 45 9 11 6 6.6 26378 chr19 4409756 4409756 A G rs2230636 CHAF1A Synonymous SNV R320R 0.234 0.31 0.259 126 275 119 0.323 76 41 18 11 17 2.396 26379 chr17 40322252 40322252 T C rs939881 KCNH4 Synonymous SNV S421S 0.08 0.076 0.112 38 94 29 0.097 33 4 4 0 0 0.048 26380 chr17 4693384 4693384 T C rs150754782 GLTPD2 Synonymous SNV G223G 0.06 0.07 0.068 26 71 27 0.067 20 4 0 1 1 0.285 26381 chr6 128388799 128388799 G T rs35030557 PTPRK Synonymous SNV L545L 0.378 0.367 0.337 128 444 141 0.328 99 76 25 16 21 0.01 26382 chr17 48046963 48046963 A G rs61749026 DLX4 Nonsynonymous SNV N44S 0.095 0.104 0.071 40 112 40 0.103 21 8 3 1 4 6.334 26383 chr19 44098963 44098963 C G rs304725 IRGQ Synonymous SNV R176R 0.592 0.565 0.643 232 695 217 0.595 189 212 65 64 65 13.05 26384 chr6 128403745 128403745 A G rs17828130 PTPRK Synonymous SNV V409V 0.625 0.599 0.599 226 734 230 0.579 176 227 61 61 64 10.82 26385 chr19 44117052 44117052 C T rs77545563 SRRM5 Nonsynonymous SNV T260I 0.041 0.044 0.058 17 48 17 0.044 17 0 1 0 1 4.236 26386 chr17 42338998 42338998 T G rs5035 SLC4A1 Nonsynonymous SNV D38A 0.027 0.029 0.044 16 32 11 0.041 13 1 1 0 0 Benign 0.001 26387 chr17 4804902 4804902 G A rs33970119 CHRNE Synonymous SNV A173A 0.082 0.039 0.044 30 96 15 0.077 13 6 0 0 0 Benign 14.33 26388 chr6 129371106 129371106 C T rs1140366 LAMA2 Synonymous SNV I52I 0.182 0.148 0.139 63 214 57 0.162 41 19 4 2 2 Benign 14.5 26389 chr6 51917968 51917968 T G rs4715271 PKHD1 Synonymous SNV P682P 0.122 0.104 0.122 45 143 40 0.115 36 11 1 2 3 Benign 0.386 26390 chr17 43176804 43176804 C T rs2239923 NMT1 Synonymous SNV L306L 0.309 0.302 0.289 102 363 116 0.262 85 52 16 13 13 13.82 26391 chr19 44302624 44302624 T C rs349053 LYPD5 Nonsynonymous SNV N124S 0.505 0.583 0.524 213 593 224 0.546 154 148 65 39 62 23.2 26392 chr17 48149386 48149386 C T rs2269772 ITGA3 Synonymous SNV F332F 0.102 0.135 0.085 40 120 52 0.103 25 10 2 1 2 14.75 26393 chr6 129381026 129381026 C A rs4404787 LAMA2 Synonymous SNV T127T 0.98 0.969 0.969 383 1150 372 0.982 285 563 181 138 188 Benign 20.7 26394 chr17 38990780 38990780 C G rs17474506 TMEM99 0.063 0.06 0.051 21 74 23 0.054 15 2 2 1 0 7.209 26395 chr17 43226887 43226887 A G rs12051846 HEXIM1 Synonymous SNV E110E 0.256 0.245 0.248 80 301 94 0.205 73 37 10 8 13 0.032 26396 chr19 44303066 44303066 C G rs11547806 LYPD5 Nonsynonymous SNV A47P 0.63 0.69 0.629 252 740 265 0.646 185 236 91 55 84 7.009 26397 chr17 48151353 48151353 T C rs2285524 ITGA3 Synonymous SNV L410L 0.124 0.154 0.116 57 145 59 0.146 34 13 4 1 3 0.204 26398 chr6 129722389 129722389 A G rs3749877 LAMA2 Synonymous SNV E1822E 0.498 0.484 0.435 169 585 186 0.433 128 147 41 27 42 Benign 7.86 26399 chr6 51947257 51947257 G A rs6901799 PKHD1 Synonymous SNV L72L 0.134 0.125 0.146 48 157 48 0.123 43 14 2 2 3 Benign/Likely benign 0.213 26400 chr17 43227214 43227214 T C rs1044977 HEXIM1 Synonymous SNV D219D 0.256 0.245 0.248 80 301 94 0.205 73 37 10 8 13 0.336 26401 chr17 47000251 47000251 C T rs1058018 UBE2Z Synonymous SNV Y282Y 0.611 0.615 0.5 231 717 236 0.592 147 220 70 41 68 14.05 26402 chr6 129722425 129722425 G A rs3749878 LAMA2 Synonymous SNV E1834E 0.498 0.484 0.435 169 585 186 0.433 128 147 41 27 42 Benign 8.83 26403 chr17 48155425 48155425 G A rs2230392 ITGA3 Nonsynonymous SNV A719T 0.098 0.128 0.088 38 115 49 0.097 26 10 1 1 2 22.8 26404 chr19 44306482 44306482 C T rs11879355 LYPD5 Synonymous SNV A17A 0.342 0.315 0.347 127 401 121 0.326 102 63 24 13 22 10.49 26405 chr6 129807629 129807629 C T rs2229848 LAMA2 Nonsynonymous SNV A2583V 0.76 0.701 0.793 300 892 269 0.769 233 346 93 94 112 Benign 34 26406 chr17 47039132 47039132 T C rs2291725 GIP Nonsynonymous SNV S103G 0.562 0.581 0.452 214 660 223 0.549 133 180 66 30 57 0.001 26407 chr19 44351167 44351172 GGAGAT - rs71907168 ZNF283 Star tloss M1? 0.363 0.417 0.422 179 426 160 0.459 124 85 43 26 45 26408 chr19 44351836 44351836 G A rs957569 ZNF283 Synonymous SNV Q222Q 0.733 0.763 0.772 302 860 293 0.774 227 316 114 88 115 4.324 26409 chr6 129807699 129807699 G C rs2229849 LAMA2 Synonymous SNV V2606V 0.761 0.701 0.793 300 893 269 0.769 233 346 93 94 112 Benign 1.886 26410 chr19 44352665 44352665 T C rs2356437 ZNF283 Nonsynonymous SNV C499R 0.733 0.763 0.772 303 860 293 0.777 227 316 114 88 116 0.051 26411 chr6 129905249 129905249 A G rs12197456 ARHGAP18 Synonymous SNV V574V 0.058 0.07 0.048 17 68 27 0.044 14 6 0 0 1 4.935 26412 chr17 42463054 42463054 G C rs76066357 ITGA2B Nonsynonymous SNV L147V 0.014 0.013 0.02 9 17 5 0.023 6 0 0 0 0 Benign 6.633 26413 chr17 36483522 36483522 G T rs62073368 GPR179 Nonsynonymous SNV P1977H 0.034 0.042 0.024 13 40 16 0.033 7 0 0 0 0 Benign 22.7 26414 chr6 130031215 130031215 T C rs3752536 ARHGAP18 Nonsynonymous SNV T23A 0.793 0.81 0.813 309 931 311 0.792 239 363 125 97 122 10.53 26415 chr19 44352666 44352666 G A rs1061769 ZNF283 Nonsynonymous SNV C499Y 0.383 0.451 0.432 183 450 173 0.469 127 85 43 26 45 0.002 26416 chr6 52878495 52878506 GCAACGGGCTTG - rs201964851 CILK1 P369_L372del 0.01 0.005 0.01 2 12 2 0.005 3 0 0 0 0 26417 chr6 52878637 52878637 T C rs2297211 CILK1 Synonymous SNV P325P 0.293 0.284 0.286 131 344 109 0.336 84 58 14 12 25 1.709 26418 chr17 48356260 48356260 G A rs6504642 TMEM92 Nonsynonymous SNV S90N 0.097 0.109 0.044 42 114 42 0.108 13 9 4 3 2 0.199 26419 chr19 44352688 44352688 G A rs2883946 ZNF283 Synonymous SNV E506E 0.383 0.451 0.432 183 450 173 0.469 127 85 43 26 45 5.159 26420 chr6 130152479 130152479 T C rs7758540 TMEM244 Synonymous SNV S124S 0.59 0.529 0.595 211 693 203 0.541 175 220 58 57 53 0.017 26421 chr6 53133964 53133964 C A rs41273878 ELOVL5 Stop gain G246X 0.02 0.023 0.027 13 24 9 0.033 8 1 0 0 1 9.717 26422 chr19 44377357 44377357 C T rs239942 ZNF404 Nonsynonymous SNV G334S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.352 26423 chr17 4337283 4337283 G A rs35751906 SPNS3 Synonymous SNV A7A 0.185 0.198 0.194 65 217 76 0.167 57 21 5 9 4 8.178 26424 chr6 130152520 130152520 A C rs7776426 TMEM244 Nonsynonymous SNV F111V 0.403 0.367 0.408 145 473 141 0.372 120 101 29 29 27 26.8 26425 chr17 48356260 48356260 G C rs6504642 TMEM92 Nonsynonymous SNV S90T 0.537 0.547 0.49 203 630 210 0.521 144 170 56 44 52 0.002 26426 chr19 44377669 44377669 G A rs12977303 ZNF404 Nonsynonymous SNV H230Y 0.469 0.409 0.412 154 551 157 0.395 121 139 34 25 34 23.8 26427 chr17 39116728 39116728 G A rs17843021 KRT39 Nonsynonymous SNV T341M 0.17 0.146 0.143 68 199 56 0.174 42 13 4 3 6 22.1 26428 chr6 130154686 130154686 A G rs4629709 TMEM244 Nonsynonymous SNV F80L 0.755 0.727 0.813 284 886 279 0.728 239 335 104 97 103 14.66 26429 chr19 44417575 44417575 A G rs417699 ZNF45 Synonymous SNV F671F 0.47 0.401 0.418 156 552 154 0.4 123 138 32 24 35 1.56 26430 chr17 4836381 4836381 C T rs6065 GP1BA Nonsynonymous SNV T161M 0.137 0.125 0.187 49 161 48 0.126 55 9 2 5 5 drug response 2.224 26431 chr17 4721376 4721376 A G rs17854914 PLD2 Nonsynonymous SNV E632G 0.122 0.148 0.129 57 143 57 0.146 38 9 4 1 5 23.1 26432 chr17 40826407 40826407 C G rs140654598 PLEKHH3 Synonymous SNV L61L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 5.17 26433 chr19 44418077 44418077 C T rs407731 ZNF45 Nonsynonymous SNV R504K 0.464 0.401 0.418 157 545 154 0.403 123 133 34 24 36 11.15 26434 chr6 130374102 130374102 C A rs9388768 L3MBTL3 Nonsynonymous SNV T158N 0.613 0.609 0.588 256 720 234 0.656 173 216 71 54 89 15.2 26435 chr17 36622446 36622446 G A rs62074684 ARHGAP23 Synonymous SNV P174P 0.04 0.029 0.034 12 47 11 0.031 10 1 0 0 0 11.51 26436 chr19 44418343 44418343 C T rs406968 ZNF45 Synonymous SNV P415P 0.464 0.401 0.415 157 545 154 0.403 122 133 34 24 36 15.18 26437 chr6 130381246 130381246 T C rs7451021 L3MBTL3 Synonymous SNV P250P 0.647 0.651 0.663 265 759 250 0.679 195 241 84 66 93 0.007 26438 chr17 39123013 39123013 G A rs17645930 KRT39 Synonymous SNV N32N 0.17 0.146 0.143 68 200 56 0.174 42 13 4 3 6 3.563 26439 chr17 4837203 4837218 CCACCCCAGAGCCCAC - rs758041497 GP1BA T436Qfs*31 0.103 0.073 0.007 39 121 28 0.1 2 8 0 0 2 26440 chr19 44418544 44418544 A G rs425221 ZNF45 Synonymous SNV N348N 0.464 0.404 0.412 157 545 155 0.403 121 133 35 24 36 0.462 26441 chr6 130465921 130465921 - CTT rs777380732 SAMD3 E459_V460insE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26442 chr17 4837221 4837243 CAGAGCCCGCCCCCAGCCCGACC - rs770089708 GP1BA S441Yfs*49 0.102 0.07 0.01 38 120 27 0.097 3 8 0 0 1 26443 chr6 130761798 130761798 T C rs3813360 TMEM200A Synonymous SNV A77A 0.141 0.151 0.139 48 166 58 0.123 41 10 1 3 6 0.435 26444 chr19 44418680 44418680 G C rs388685 ZNF45 Nonsynonymous SNV P303R 0.463 0.401 0.408 156 544 154 0.4 120 133 34 24 35 9.393 26445 chr17 48433958 48433958 T C rs4794136 XYLT2 Synonymous SNV Y523Y 0.46 0.469 0.514 174 540 180 0.446 151 120 43 38 40 0.133 26446 chr17 41001676 41001676 C T AOC2 Nonsynonymous SNV H618Y 0.003 0 0 0 3 0 0 0 0 0 0 0 8.642 26447 chr6 130761804 130761804 C T rs12200105 TMEM200A Synonymous SNV A79A 0.239 0.229 0.211 90 281 88 0.231 62 32 7 13 8 12.98 26448 chr19 44418693 44418693 T C rs388706 ZNF45 Nonsynonymous SNV T299A 0.465 0.401 0.415 156 546 154 0.4 122 133 34 24 35 0.109 26449 chr6 130761957 130761957 A G rs3813359 TMEM200A Synonymous SNV P130P 0.122 0.122 0.122 39 143 47 0.1 36 8 1 3 4 0.533 26450 chr17 48070878 48070878 C T rs2303466 DLX3 Synonymous SNV T134T 0.186 0.195 0.163 91 218 75 0.233 48 16 9 7 8 Benign 22.2 26451 chr6 131148737 131148737 G A rs1044303 SMLR1 Nonsynonymous SNV V62M 0.214 0.234 0.245 91 251 90 0.233 72 30 8 12 13 22.2 26452 chr19 44418824 44418824 C T rs399098 ZNF45 Nonsynonymous SNV R255K 0.463 0.401 0.412 157 543 154 0.403 121 133 34 24 36 5.219 26453 chr17 48183471 48183471 G A rs11237 PDK2 Synonymous SNV G185G 0.288 0.271 0.272 130 338 104 0.333 80 44 14 11 20 2.323 26454 chr6 132271952 132271952 G C rs7451102 CCN2 Nonsynonymous SNV H83D 1 1 0.963 389 1174 384 0.997 283 587 192 141 194 11.81 26455 chr6 54173413 54173413 A G rs2297980 TINAG Nonsynonymous SNV Q22R 0.087 0.089 0.116 36 102 34 0.092 34 5 2 2 2 0.002 26456 chr17 39135089 39135089 G A rs11649834 KRT40 Nonsynonymous SNV T388M 0.169 0.143 0.092 65 198 55 0.167 27 13 3 2 6 24.3 26457 chr19 44419030 44419030 A G rs420242 ZNF45 Synonymous SNV H186H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.05 26458 chr17 4462875 4462875 G A rs148111494 GGT6 Synonymous SNV H107H 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 1.107 26459 chr19 4442336 4442336 C T rs9352 CHAF1A Nonsynonymous SNV A923V 0.56 0.607 0.558 236 658 233 0.605 164 188 71 48 66 23.5 26460 chr17 48452978 48452978 - AGC rs3060668 EME1 K137_P138insQ 0.456 0.469 0.52 169 535 180 0.433 153 118 43 40 39 26461 chr6 132271959 132271959 T G rs12206231 CCN2 Synonymous SNV L80L 1 1 0.963 389 1174 384 0.997 283 587 192 141 194 11.55 26462 chr6 54186147 54186147 T C rs1058768 TINAG Nonsynonymous SNV S158P 0.67 0.688 0.67 256 787 264 0.656 197 261 92 71 82 10.65 26463 chr17 48539035 48539035 T C rs9674937 ACSF2 Synonymous SNV Y5Y 0.325 0.333 0.361 96 381 128 0.246 106 71 18 22 15 1.488 26464 chr6 132271980 132271980 T G rs6934749 CCN2 Synonymous SNV P73P 1 1 0.956 389 1174 384 0.997 281 587 192 140 194 11.24 26465 chr19 4442999 4442999 T G rs243383 CHAF1A Nonsynonymous SNV S950A 0.992 0.995 0.966 387 1165 382 0.992 284 578 190 137 192 0.001 26466 chr6 133015271 133015271 T C rs2272996 VNN1 Nonsynonymous SNV N131S 0.249 0.247 0.228 109 292 95 0.279 67 39 13 13 12 23.2 26467 chr19 44470189 44470189 T A rs454301 ZNF221 Nonsynonymous SNV F179I 0.997 1 0.99 389 1170 384 0.997 291 583 192 144 194 15.89 26468 chr17 44950022 44950022 G A rs781051102 WNT9B Nonsynonymous SNV G73S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 26469 chr17 43003484 43003484 T C rs3169733 KIF18B Synonymous SNV A841A 0.32 0.281 0.32 123 376 108 0.315 94 67 15 13 18 0.506 26470 chr6 133045812 133045812 G A rs2294758 VNN3 Nonsynonymous SNV T87I 0.422 0.464 0.354 170 496 178 0.436 104 95 44 19 38 5.348 26471 chr17 4837172 4837210 GAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA - rs770991996 GP1BA S441_T453del 0.67 0.714 0.105 267 787 274 0.685 31 308 111 15 103 26472 chr17 43011908 43011908 G A rs755547 KIF18B Synonymous SNV N218N 0.227 0.211 0.245 84 266 81 0.215 72 34 8 6 10 6.423 26473 chr19 44470420 44470420 T C rs439676 ZNF221 Nonsynonymous SNV C256R 0.962 0.966 0.942 380 1129 371 0.974 277 544 179 131 185 23.6 26474 chr6 133045902 133045902 A G rs2294759 VNN3 Nonsynonymous SNV F57S 0.38 0.419 0.333 156 446 161 0.4 98 76 35 19 29 13.39 26475 chr17 39334241 39334241 G C rs62067292 KRTAP4-2 Nonsynonymous SNV T59S 0.048 0.034 0.044 16 56 13 0.041 13 2 0 0 1 0.271 26476 chr19 44470548 44470548 A G rs453640 ZNF221 Synonymous SNV Q298Q 0.997 1 0.99 389 1170 384 0.997 291 583 192 144 194 4.468 26477 chr19 44470663 44470663 G C rs435590 ZNF221 Nonsynonymous SNV A337P 0.997 1 0.99 389 1170 384 0.997 291 583 192 144 194 0.539 26478 chr6 133070995 133070995 G T rs4895944 VNN2 Nonsynonymous SNV L183M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.027 26479 chr17 48474662 48474662 C T LRRC59 Nonsynonymous SNV S6N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.4 26480 chr17 48559559 48559559 A G rs7210579 RSAD1 Synonymous SNV V194V 0.321 0.336 0.361 93 377 129 0.238 106 72 19 23 14 8.527 26481 chr19 44471209 44471209 T A rs365745 ZNF221 Nonsynonymous SNV S519T 0.883 0.893 0.864 356 1037 343 0.913 254 452 154 109 161 12.4 26482 chr6 133072650 133072650 A G rs1883617 VNN2 Synonymous SNV G278G 0.423 0.466 0.361 171 497 179 0.438 106 95 45 19 38 4.954 26483 chr19 44471323 44471323 G A rs366111 ZNF221 Nonsynonymous SNV G557R 0.917 0.927 0.912 365 1076 356 0.936 268 489 165 121 170 24.1 26484 chr6 133077063 133077063 T C rs1883613 VNN2 Synonymous SNV T152T 0.419 0.461 0.361 171 492 177 0.438 106 95 44 19 39 2.369 26485 chr17 41981843 41981843 G A rs146406851 MPP2 Nonsynonymous SNV L41F 0.014 0.023 0.02 6 16 9 0.015 6 0 0 0 0 8.314 26486 chr6 133138010 133138010 T C rs9389034 SNORD100 0.447 0.466 0.503 190 525 179 0.487 148 119 42 35 44 15.6 26487 chr19 44500478 44500478 A T rs398235 ZNF155 Nonsynonymous SNV I157F 0.997 0.992 0.986 389 1171 381 0.997 290 584 189 143 194 0.005 26488 chr17 45360730 45360730 T C rs5918 ITGB3 Nonsynonymous SNV L59P 0.154 0.18 0.16 58 181 69 0.149 47 22 9 2 5 Benign 0.002 26489 chr6 55196575 55196575 G C rs116111965 GFRAL Nonsynonymous SNV E29Q 0.034 0.036 0.031 12 40 14 0.031 9 0 0 0 0 7.621 26490 chr6 133827354 133827354 A G rs2277083 TARID 0.635 0.651 0.582 239 746 250 0.613 171 233 83 56 76 0.433 26491 chr19 44500761 44500761 G A rs448921 ZNF155 Nonsynonymous SNV R251H 0.978 0.982 0.956 384 1148 377 0.985 281 561 185 135 189 0.094 26492 chr6 135751024 135751024 G A rs13312995 AHI1 Nonsynonymous SNV R830W 0.023 0.039 0.034 13 27 15 0.033 10 1 0 1 0 Benign/Likely benign 34 26493 chr17 48603503 48603503 C T rs9890721 MYCBPAP Nonsynonymous SNV R697W 0.551 0.586 0.605 218 647 225 0.559 178 175 73 55 65 8.045 26494 chr6 55196587 55196587 C T rs12199003 GFRAL Nonsynonymous SNV R33C 0.485 0.492 0.548 189 569 189 0.485 161 139 40 42 42 14.85 26495 chr19 44501116 44501116 A G rs388812 ZNF155 Synonymous SNV E369E 0.98 0.982 0.959 384 1151 377 0.985 282 564 185 136 189 14.32 26496 chr6 136682172 136682172 G A rs2076190 MAP7 Nonsynonymous SNV R464W 0.845 0.815 0.738 341 992 313 0.874 217 418 131 94 148 25.7 26497 chr19 44501227 44501227 A G rs388471 ZNF155 Synonymous SNV G406G 0.98 0.982 0.959 384 1150 377 0.985 282 563 185 136 189 11.3 26498 chr6 55198696 55198696 T C rs116685319 GFRAL Synonymous SNV Y90Y 0.034 0.036 0.031 12 40 14 0.031 9 0 0 0 0 0.003 26499 chr19 44503379 44503379 C T rs452554 LOC101928063 0 0 0.973 0 0 0 0 286 0 0 139 0 3.989 26500 chr6 55214895 55214895 G A rs147652095 GFRAL Nonsynonymous SNV V108M 0.034 0.036 0.024 12 40 14 0.031 7 0 0 0 0 0.007 26501 chr17 3785618 3785618 G A rs74582253 CAMKK1 Synonymous SNV I244I 0.027 0.016 0.014 10 32 6 0.026 4 1 0 0 0 9.989 26502 chr19 44515352 44515352 T G rs1060880 ZNF230 Synonymous SNV T387T 0.22 0.198 0.19 86 258 76 0.221 56 25 9 9 9 4.343 26503 chr17 45438788 45438788 C T rs78865644 EFCAB13 Stop gain R236X 0.028 0.029 0.02 4 33 11 0.01 6 1 0 0 0 35 26504 chr6 136977568 136977568 T C rs2076260 MAP3K5 Synonymous SNV L519L 0.149 0.122 0.167 34 175 47 0.087 49 14 1 6 1 7.964 26505 chr19 44515514 44515514 C A rs12753 ZNF230 Nonsynonymous SNV D441E 0.22 0.198 0.173 86 258 76 0.221 51 25 9 9 9 9.281 26506 chr17 3787223 3787223 G A rs56101368 CAMKK1 Synonymous SNV Y139Y 0.028 0.016 0.014 7 33 6 0.018 4 1 0 0 0 8.46 26507 chr17 48616114 48616114 C G rs4794158 LOC105371824 0.505 0.534 0.565 211 593 205 0.541 166 208 73 52 69 3.426 26508 chr17 42335135 42335135 C T rs5017 SLC4A1 Synonymous SNV L441L 0.083 0.104 0.078 24 98 40 0.062 23 3 7 1 3 Benign/Likely benign 9.794 26509 chr6 137325847 137325847 C T rs1555498 IL20RA Nonsynonymous SNV V148I 0.991 0.997 0.973 382 1163 383 0.979 286 578 191 140 188 0.018 26510 chr6 55214932 55214932 G T rs115053739 GFRAL Nonsynonymous SNV R120L 0.034 0.036 0.02 12 40 14 0.031 6 0 0 0 0 0.004 26511 chr17 48619249 48619249 C A rs4794159 EPN3 Nonsynonymous SNV P544T 0.523 0.552 0.551 199 614 212 0.51 162 164 65 48 51 22.8 26512 chr19 44535999 44535999 G T rs7258517 ZNF222 Nonsynonymous SNV V98F 0.616 0.664 0.616 241 723 255 0.618 181 221 81 64 72 8.233 26513 chr6 138615148 138615148 G A rs203145 ARFGEF3 Synonymous SNV T1129T 0.147 0.164 0.153 72 173 63 0.185 45 10 6 2 7 16.92 26514 chr6 55216344 55216344 A G rs146300118 GFRAL Nonsynonymous SNV S222G 0.034 0.036 0.031 12 40 14 0.031 9 0 0 0 0 9.335 26515 chr17 48625928 48625928 C G rs8076632 SPATA20 Nonsynonymous SNV Q88E 0.333 0.349 0.391 142 391 134 0.364 115 61 25 25 28 11.71 26516 chr19 44536397 44536397 T C rs151037918 ZNF222 Synonymous SNV T230T 0.017 0.005 0.02 2 20 2 0.005 6 0 0 0 0 2.425 26517 chr6 138753337 138753337 C T rs2039121 NHSL1 Synonymous SNV K719K 0.648 0.612 0.653 253 761 235 0.649 192 239 69 66 83 13.82 26518 chr17 39383069 39383069 A G rs71371480 KRTAP9-2 Nonsynonymous SNV T55A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.006 26519 chr19 44564981 44564981 G A rs3826941 ZNF223 Synonymous SNV R74R 0.86 0.872 0.864 339 1010 335 0.869 254 438 144 110 149 8.055 26520 chr6 138754323 138754323 A G rs2327891 NHSL1 Synonymous SNV L391L 0.745 0.68 0.762 278 875 261 0.713 224 322 91 85 99 10.04 26521 chr17 43923898 43923898 A G rs171443 SPPL2C Synonymous SNV S542S 0.055 0.06 0.054 22 64 23 0.056 16 0 0 0 0 3.42 26522 chr17 48628092 48628092 A G rs1132414 SPATA20 Synonymous SNV E383E 0.258 0.294 0.357 103 303 113 0.264 105 39 19 25 14 3.195 26523 chr19 44570393 44570393 C A rs6509138 ZNF223 Nonsynonymous SNV L138I 0.611 0.648 0.633 241 717 249 0.618 186 216 79 62 76 2.756 26524 chr6 139094629 139094629 - G rs111500978 GVQW2 0.189 0.169 0.139 61 222 65 0.156 41 14 2 3 3 26525 chr17 39197538 39197538 G T rs146863522 KRTAP1-1 Nonsynonymous SNV R38S 0.038 0.042 0.041 13 45 16 0.033 12 0 0 0 0 0.002 26526 chr17 48628470 48628470 T A rs9913430 SPATA20 Nonsynonymous SNV S483T 0.311 0.328 0.391 115 365 126 0.295 115 66 21 28 19 0.003 26527 chr17 44248848 44248848 G A KANSL1 Nonsynonymous SNV T221I 0.077 0.065 0.143 38 90 25 0.097 42 25 7 12 7 Benign 23.2 26528 chr19 44570551 44570551 G A rs4375771 ZNF223 Synonymous SNV A190A 0.86 0.872 0.854 339 1010 335 0.869 251 438 144 109 149 14.34 26529 chr6 139094638 139094638 A G rs59299306 GVQW2 0.239 0.258 0.262 98 281 99 0.251 77 37 15 17 16 4.267 26530 chr19 44571154 44571154 T C rs4433920 ZNF223 Synonymous SNV H391H 0.648 0.69 0.663 252 761 265 0.646 195 240 93 70 81 2.372 26531 chr6 139487836 139487836 T C rs3173082 HECA Synonymous SNV N229N 0.701 0.721 0.741 279 823 277 0.715 218 282 102 81 94 0.069 26532 chr17 39197549 39197549 G C rs748281420 KRTAP1-1 Nonsynonymous SNV S34C 0.04 0.042 0.034 11 47 16 0.028 10 0 0 0 0 0.485 26533 chr17 4446457 4446457 G A rs751670 MYBBP1A Synonymous SNV H881H 0.156 0.12 0.163 55 183 46 0.141 48 12 2 4 1 10.01 26534 chr19 44590000 44590002 CTC - rs139900131 ZNF284 S124del 0.629 0.654 0.636 241 738 251 0.618 187 226 82 62 76 26535 chr6 139695061 139695061 G T rs1131400 CITED2 Synonymous SNV A7A 0.201 0.216 0.184 89 236 83 0.228 54 20 8 3 13 0.655 26536 chr19 44590558 44590558 C T rs7255701 ZNF284 Synonymous SNV H309H 0.624 0.651 0.636 238 733 250 0.61 187 223 82 62 75 5.507 26537 chr17 4455266 4455266 G T rs117615621 MYBBP1A Nonsynonymous SNV A311E 0.021 0.016 0.017 5 25 6 0.013 5 0 0 0 0 9.711 26538 chr17 39216019 39216019 G A rs12937861 KRTAP2-3 Nonsynonymous SNV A95V 0.089 0.063 0.017 29 104 24 0.074 5 8 2 1 4 23.4 26539 chr17 48614426 48614426 G A rs143725319 EPN3 Nonsynonymous SNV R170H 0.028 0.029 0.054 7 33 11 0.018 16 0 0 0 0 24.2 26540 chr6 142455130 142455130 C T rs225607 GJE1 Synonymous SNV N61N 0.452 0.482 0.548 183 531 185 0.469 161 118 46 38 45 8.812 26541 chr19 44591360 44591360 G A rs8113249 ZNF284 Nonsynonymous SNV E577K 0.836 0.88 0.83 326 982 338 0.836 244 414 149 99 138 8.793 26542 chr6 142691549 142691549 A C rs11155242 ADGRG6 Nonsynonymous SNV K230Q 0.217 0.19 0.228 83 255 73 0.213 67 27 6 9 9 0.132 26543 chr17 48703752 48703752 T C rs739925 CACNA1G Synonymous SNV P2131P 0.519 0.536 0.439 192 609 206 0.492 129 161 53 36 44 0.018 26544 chr19 44610665 44610665 A G rs2068061 ZNF224 Nonsynonymous SNV M118V 0.859 0.906 0.854 334 1009 348 0.856 251 433 157 106 144 1.98 26545 chr6 56569104 56569104 A G rs16888128 DST Synonymous SNV L73L 0.164 0.141 0.204 66 192 54 0.169 60 13 3 6 5 7.128 26546 chr17 43246582 43246582 G T HEXIM2 Nonsynonymous SNV K111N 0.003 0 0 0 3 0 0 0 0 0 0 0 32 26547 chr6 142718801 142718801 G A rs989946 ADGRG6 Synonymous SNV L464L 0.983 0.987 0.99 383 1154 379 0.982 291 567 187 144 188 Benign 5.543 26548 chr17 43316360 43316360 G A rs12940312 FMNL1 Synonymous SNV S336S 0.127 0.156 0.177 49 149 60 0.126 52 10 6 5 4 14.06 26549 chr17 38100673 38100673 C G rs72832968 LRRC3C Nonsynonymous SNV L172V 0.037 0.039 0.017 9 43 15 0.023 5 2 0 0 0 24.5 26550 chr19 44610798 44610798 A T rs4239529 ZNF224 Nonsynonymous SNV H162L 0.858 0.904 0.857 336 1007 347 0.862 252 431 156 107 145 6.517 26551 chr6 142758631 142758631 A G rs1262686 ADGRG6 Nonsynonymous SNV Q1099R 0.991 0.995 0.997 387 1164 382 0.992 293 577 190 146 192 Benign 13.18 26552 chr17 45917605 45917605 T C rs17856536 SCRN2 Nonsynonymous SNV K103R 0.077 0.063 0.088 30 90 24 0.077 26 5 0 2 1 10.51 26553 chr19 44611066 44611066 T C rs7508149 ZNF224 Synonymous SNV H251H 0.843 0.893 0.837 333 990 343 0.854 246 415 152 103 145 1.157 26554 chr19 44611420 44611420 A G rs4508518 ZNF224 Synonymous SNV E369E 0.816 0.87 0.823 324 958 334 0.831 242 387 144 97 135 9.063 26555 chr6 143074700 143074700 T C rs169098 HIVEP2 Synonymous SNV P2295P 0.603 0.589 0.636 252 708 226 0.646 187 220 66 62 81 Benign 0.002 26556 chr19 44612005 44612005 A G rs3746321 ZNF224 Synonymous SNV G564G 0.822 0.867 0.813 324 965 333 0.831 239 392 143 97 136 16.45 26557 chr17 48628103 48628103 C T rs755188329 SPATA20 Nonsynonymous SNV S387L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 26558 chr19 44612014 44612014 A T rs3200505 ZNF224 Synonymous SNV P567P 0.823 0.867 0.816 324 966 333 0.831 240 392 143 97 136 16.59 26559 chr6 143091263 143091263 A G rs109836 HIVEP2 Nonsynonymous SNV L1538P 0.939 0.935 0.949 356 1102 359 0.913 279 518 169 132 164 1.609 26560 chr19 44612231 44612231 A G rs3746319 ZNF224 Nonsynonymous SNV K640E 0.818 0.87 0.82 325 960 334 0.833 241 389 144 97 136 3.779 26561 chr17 45015996 45015996 A G rs150907052 GOSR2 Nonsynonymous SNV N105S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 26562 chr6 143382110 143382110 T C rs1053192 AIG1 Synonymous SNV S16S 0.098 0.107 0.112 52 115 41 0.133 33 5 4 4 2 8.807 26563 chr17 3955402 3955402 G A rs142651074 ZZEF1 Synonymous SNV D1821D 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 9.318 26564 chr19 44652954 44652954 G A rs2293587 ZNF234 Nonsynonymous SNV V16I 0.379 0.409 0.34 152 445 157 0.39 100 83 38 20 32 14.97 26565 chr6 143816859 143816859 C T rs8161 FUCA2 Synonymous SNV L463L 0.331 0.331 0.357 134 389 127 0.344 105 66 20 19 25 7.527 26566 chr6 63990094 63990094 C T rs3846795 LGSN Synonymous SNV E454E 0.062 0.073 0.051 28 73 28 0.072 15 1 2 1 1 9.623 26567 chr6 64498055 64498055 T A rs66462731 EYS Nonsynonymous SNV S2556C 0.075 0.083 0.054 35 88 32 0.09 16 3 0 0 4 Benign 25.3 26568 chr19 44660967 44660967 A G rs12609635 ZNF234 Synonymous SNV G266G 0.353 0.388 0.337 138 415 149 0.354 99 68 32 18 27 5.721 26569 chr6 143823112 143823112 G A rs3762001 FUCA2 Nonsynonymous SNV H371Y 0.198 0.174 0.224 96 232 67 0.246 66 23 7 6 12 10.45 26570 chr19 44739303 44739303 T C rs2279073 ZNF227 Synonymous SNV N161N 0.563 0.536 0.548 225 661 206 0.577 161 179 53 42 63 0.024 26571 chr19 44739399 44739399 T C rs2279072 ZNF227 Synonymous SNV H193H 0.591 0.56 0.582 232 694 215 0.595 171 198 57 49 67 0.056 26572 chr6 143823157 143823157 T C rs3762002 FUCA2 Nonsynonymous SNV M356V 0.198 0.174 0.231 96 233 67 0.246 68 23 7 6 12 12.62 26573 chr19 44778405 44778405 A C rs1233428 ZNF233 Nonsynonymous SNV K531T 0.727 0.701 0.748 288 853 269 0.738 220 308 91 81 107 1.479 26574 chr17 46052883 46052883 G A rs61741125 CDK5RAP3 Nonsynonymous SNV E86K 0.071 0.065 0.044 32 83 25 0.082 13 1 0 2 1 21.1 26575 chr17 48753423 48753423 C T rs4148416 ABCC3 Synonymous SNV G1013G 0.055 0.06 0.071 17 64 23 0.044 21 4 0 2 2 12.53 26576 chr6 144081609 144081609 C T rs2073214 PHACTR2 Nonsynonymous SNV P176S 0.238 0.229 0.19 89 279 88 0.228 56 28 13 5 17 9.689 26577 chr19 44778796 44778796 G - rs59660444 ZNF233 L662Cfs*44 0.167 0.161 0.201 62 196 62 0.159 59 13 6 6 5 26578 chr6 65300516 65300516 T G rs57312007 EYS Nonsynonymous SNV L1748F 0.065 0.07 0.085 34 76 27 0.087 25 2 0 0 2 Benign 12.53 26579 chr19 44778797 44778797 T A rs2884015 ZNF233 Nonsynonymous SNV L662M 0.167 0.161 0.201 62 196 62 0.159 59 13 6 6 5 8.036 26580 chr17 4875566 4875566 T C rs238230 CAMTA2 Synonymous SNV P925P 0.586 0.656 0.592 224 688 252 0.574 174 203 79 55 65 0.302 26581 chr6 144181619 144181619 A G rs7454959 LTV1 Synonymous SNV E105E 0.024 0.036 0.044 14 28 14 0.036 13 0 0 1 0 10.35 26582 chr19 44778799 44778799 G A rs2884016 ZNF233 Synonymous SNV L662L 0.153 0.151 0.187 59 180 58 0.151 55 10 6 6 4 10.69 26583 chr6 144820425 144820425 A C rs35303759 UTRN Synonymous SNV A1542A 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Benign 6.336 26584 chr19 44792701 44792701 T G rs2125579 ZNF235 Nonsynonymous SNV H296P 0.564 0.542 0.551 229 662 208 0.587 162 178 56 43 65 0.013 26585 chr6 144820481 144820481 C G rs35042870 UTRN Nonsynonymous SNV S1561C 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Likely benign 24.4 26586 chr17 51063068 51063068 A G rs12450084 C17orf112 0.039 0.034 0.031 14 46 13 0.036 9 0 0 0 0 0.407 26587 chr17 4925451 4925451 T C KIF1C Nonsynonymous SNV I692T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 26588 chr6 65622463 65622463 A G rs9294631 EYS Nonsynonymous SNV L852P 0.555 0.534 0.602 233 651 205 0.597 177 185 55 51 71 Benign 5.12 26589 chr19 44792969 44792969 G A rs2609908 ZNF235 Synonymous SNV L207L 0.729 0.703 0.745 290 856 270 0.744 219 309 92 81 108 0.723 26590 chr17 45748139 45748139 T G rs765019576 KPNB1 Synonymous SNV T351T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 26591 chr19 44831989 44831989 T G rs2609881 ZNF112 Nonsynonymous SNV E713A 0.163 0.161 0.197 59 191 62 0.151 58 12 6 7 4 8.605 26592 chr6 144852201 144852201 G A rs12204734 UTRN Nonsynonymous SNV A1974T 0.267 0.229 0.231 100 313 88 0.256 68 49 12 10 14 22.1 26593 chr6 66044927 66044927 T C rs61753610 EYS Nonsynonymous SNV Q571R 0.151 0.122 0.16 66 177 47 0.169 47 13 2 5 5 Benign/Likely benign 0.013 26594 chr17 4577950 4577950 C A rs8081507 PELP1 Synonymous SNV R479R 0.101 0.107 0.109 41 118 41 0.105 32 10 1 1 2 13.32 26595 chr19 44832684 44832684 T G rs2609880 ZNF112 Synonymous SNV T481T 0.704 0.682 0.69 286 826 262 0.733 203 291 87 73 106 4.717 26596 chr6 144869785 144869785 A G rs1534443 UTRN Nonsynonymous SNV N2202S 0.318 0.286 0.269 117 373 110 0.3 79 72 18 16 18 0.086 26597 chr19 44832875 44832875 A G rs2722722 ZNF112 Nonsynonymous SNV Y418H 0.704 0.682 0.711 286 826 262 0.733 209 291 87 73 106 0.004 26598 chr17 4585821 4585821 G A rs11541059 PELP1 Synonymous SNV F206F 0.078 0.076 0.065 34 92 29 0.087 19 7 0 1 2 11.55 26599 chr6 146125793 146125793 A T rs3811102 FBXO30 Nonsynonymous SNV H583Q 0.438 0.445 0.435 181 514 171 0.464 128 117 45 31 36 3.285 26600 chr19 44832992 44832992 C G rs2722723 ZNF112 Nonsynonymous SNV E379Q 0.704 0.682 0.707 286 826 262 0.733 208 291 87 73 106 0.004 26601 chr6 70071173 70071173 G A rs913543 ADGRB3 Synonymous SNV P1336P 0.432 0.401 0.391 163 507 154 0.418 115 111 39 24 32 10.99 26602 chr17 51901385 51901385 C T rs3803826 KIF2B Synonymous SNV L331L 0.371 0.362 0.364 148 435 139 0.379 107 80 27 21 22 0.154 26603 chr6 146126419 146126419 C T rs9373475 FBXO30 Nonsynonymous SNV V375M 0.438 0.443 0.439 181 514 170 0.464 129 117 44 31 36 10.39 26604 chr6 70407465 70407465 A T rs12648 LMBRD1 Nonsynonymous SNV D396E 0.485 0.495 0.388 194 569 190 0.497 114 141 47 20 51 Benign 15.78 26605 chr19 44833506 44833506 C T rs4325673 ZNF112 Synonymous SNV E207E 0.735 0.703 0.741 295 863 270 0.756 218 314 92 80 112 11.07 26606 chr19 44833851 44833851 G C rs4280359 ZNF112 Nonsynonymous SNV F92L 0.735 0.703 0.741 295 863 270 0.756 218 314 92 80 112 1.052 26607 chr6 146207465 146207465 A G rs1062068 LOC100507557 0.453 0.456 0.248 189 532 175 0.485 73 125 44 25 38 12.55 26608 chr6 146207502 146207502 - T rs11421576 LOC100507557 0.463 0.464 0.327 191 544 178 0.49 96 130 45 28 40 26609 chr19 44840789 44840789 T C rs2571104 ZNF112 Synonymous SNV R8R 0.704 0.682 0.711 286 826 262 0.733 209 291 87 73 106 0.023 26610 chr6 146207563 146207563 A G rs1062067 LOC100507557 0.457 0.458 0.333 189 536 176 0.485 98 126 44 27 38 0.092 26611 chr19 44932972 44932972 C T rs1434579 ZNF229 Nonsynonymous SNV G656R 0.333 0.352 0.34 157 391 135 0.403 100 67 24 18 30 28.3 26612 chr6 146207657 146207657 A C rs2256998 LOC100507557 0.449 0.443 0.296 184 527 170 0.472 87 126 44 26 37 10.48 26613 chr17 4497137 4497137 T C rs9916524 SMTNL2 Nonsynonymous SNV W251R 0.005 0.005 0.017 4 6 2 0.01 5 0 0 0 0 0.002 26614 chr6 146755140 146755140 G A rs2942 GRM1 Synonymous SNV K931K 0.544 0.549 0.561 219 639 211 0.562 165 166 57 46 58 Benign 10.04 26615 chr17 526907 526907 G T rs16954056 VPS53 Nonsynonymous SNV L299I 0.148 0.096 0.116 53 174 37 0.136 34 12 2 1 3 Benign 29.8 26616 chr19 44933947 44933947 G A rs12151338 ZNF229 Nonsynonymous SNV R331C 0.337 0.367 0.361 161 396 141 0.413 106 71 27 19 32 14.25 26617 chr6 146755324 146755324 T C rs6923492 GRM1 Nonsynonymous SNV S993P 0.551 0.549 0.568 221 647 211 0.567 167 170 57 47 60 Benign 9.485 26618 chr6 71236216 71236216 C T rs7740873 FAM135A Synonymous SNV N914N 0.181 0.193 0.167 74 213 74 0.19 49 23 5 2 6 8.033 26619 chr19 44934489 44934489 G A rs2571174 ZNF229 Nonsynonymous SNV S150F 0.901 0.906 0.857 346 1058 348 0.887 252 474 160 107 153 0.002 26620 chr17 5276611 5276611 G A rs3026098 RABEP1 Synonymous SNV A586A 0.032 0.016 0.037 13 37 6 0.033 11 0 0 0 1 13.38 26621 chr6 146755515 146755515 T G rs6923864 GRM1 Synonymous SNV G1056G 0.576 0.573 0.595 235 676 220 0.603 175 185 64 52 69 Benign 5.517 26622 chr19 44981375 44981375 T C rs954314 ZNF180 Synonymous SNV Q416Q 0.262 0.302 0.235 100 308 116 0.256 69 43 15 8 16 0.334 26623 chr19 44981883 44981883 C G rs1897820 ZNF180 Nonsynonymous SNV C247S 0.378 0.419 0.401 141 444 161 0.362 118 87 33 27 28 0.023 26624 chr6 71269459 71269459 C T rs16869371 FAM135A Synonymous SNV P1232P 0.158 0.18 0.139 63 186 69 0.162 41 15 4 1 4 2.779 26625 chr6 146755560 146755560 T G rs1047006 GRM1 Synonymous SNV P1071P 0.4 0.391 0.408 160 470 150 0.41 120 89 31 25 29 Benign/Likely benign 0.06 26626 chr6 71289189 71289189 A G rs1048886 SDHAF4 Nonsynonymous SNV Q46R 0.175 0.198 0.167 66 206 76 0.169 49 21 5 3 4 13.91 26627 chr6 146755842 146755842 C A rs9373491 GRM1 Synonymous SNV P1165P 0.549 0.552 0.568 221 645 212 0.567 167 170 58 47 60 Benign 16.04 26628 chr19 44983567 44983567 C G rs2253563 ZNF180 Nonsynonymous SNV W64C 0.385 0.422 0.405 144 452 162 0.369 119 93 34 27 28 27.3 26629 chr6 146993445 146993445 T C rs9497606 ADGB Nonsynonymous SNV I310T 0.219 0.214 0.207 59 257 82 0.151 61 33 8 6 1 0.085 26630 chr6 71546702 71546702 C T rs2273566 SMAP1 Nonsynonymous SNV A185V 0.087 0.089 0.092 40 102 34 0.103 27 8 2 2 3 11.19 26631 chr17 38935876 38935876 C T rs17558532 KRT27 Nonsynonymous SNV A284T 0.15 0.182 0.143 68 176 70 0.174 42 18 7 0 4 32 26632 chr19 4499633 4499647 AGCTGGCCGGGGAGG - rs34068770 HDGFL2 K574Tfs*61 0.953 0.961 0.966 378 1119 369 0.969 284 554 181 139 186 26633 chr6 147049868 147049868 G A rs3747756 ADGB Synonymous SNV Q837Q 0.162 0.182 0.163 80 190 70 0.205 48 14 4 2 14 10.83 26634 chr17 45364540 45364540 T C rs5919 ITGB3 Synonymous SNV P294P 0.106 0.115 0.136 45 124 44 0.115 40 4 3 4 3 Benign 6.437 26635 chr19 45001346 45001346 G A rs2571108 ZNF180 Nonsynonymous SNV A41V 0.315 0.349 0.306 122 370 134 0.313 90 60 21 15 20 2.475 26636 chr6 147106841 147106841 A G rs259391 ADGB Synonymous SNV K1436K 0.503 0.495 0.49 187 590 190 0.479 144 158 48 34 42 0.009 26637 chr19 45016116 45016116 A G rs8100718 CEACAM20 Nonsynonymous SNV C419R 0.531 0.539 0.548 215 623 207 0.551 161 161 52 45 61 1.506 26638 chr17 53026936 53026936 G C rs150430773 TOM1L1 Nonsynonymous SNV A337P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.1 26639 chr6 147635413 147635413 A G rs1039084 STXBP5 Nonsynonymous SNV N436S 0.514 0.549 0.531 218 603 211 0.559 156 189 65 35 67 6.039 26640 chr19 45016991 45016991 T - rs398034748 CEACAM20 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 26641 chr6 71998778 71998778 T C rs112585190 OGFRL1 Nonsynonymous SNV S47P 0.052 0.065 0.105 26 61 25 0.067 31 9 5 2 2 18.68 26642 chr19 45017249 45017249 T C rs1465723 CEACAM20 Nonsynonymous SNV Y377C 0.164 0.177 0.112 64 192 68 0.164 33 15 5 1 5 3.008 26643 chr6 147680359 147680359 A G rs9390459 STXBP5 Synonymous SNV L779L 0.595 0.602 0.548 239 699 231 0.613 161 205 67 35 69 5.871 26644 chr19 45024581 45024581 C G rs12982449 CEACAM20 Synonymous SNV T319T 0.646 0.648 0.541 253 758 249 0.649 159 240 85 44 82 3.621 26645 chr17 46675240 46675240 G T rs34438598 HOXB6 Synonymous SNV S91S 0.13 0.115 0.15 71 153 44 0.182 44 9 3 6 9 8.295 26646 chr17 45822579 45822579 G A rs12721470 TBX21 Synonymous SNV P485P 0.03 0.031 0.034 12 35 12 0.031 10 1 0 0 1 11.4 26647 chr19 45028169 45028169 C T rs7260180 CEACAM20 Nonsynonymous SNV V108I 0.643 0.651 0.534 253 755 250 0.649 157 240 86 42 82 6.476 26648 chr6 72006512 72006512 T C rs2273888 OGFRL1 Synonymous SNV H229H 0.095 0.109 0.133 32 112 42 0.082 39 10 6 2 2 0.505 26649 chr6 147830073 147830073 C T rs66812182 SAMD5 Synonymous SNV T3T 0.247 0.237 0.262 87 290 91 0.223 77 34 15 10 10 14.04 26650 chr19 45029208 45029208 G A rs10408247 CEACAM20 Nonsynonymous SNV A41V 0.078 0.081 0.15 26 91 31 0.067 44 3 1 6 0 3.605 26651 chr19 4508945 4508945 A G rs8105775 PLIN4 Synonymous SNV P1179P 0.999 0.997 0.993 387 1173 383 0.992 292 586 191 145 192 0.016 26652 chr6 148854984 148854984 G A rs2294787 SASH1 Synonymous SNV T365T 0.162 0.195 0.133 70 190 75 0.179 39 18 2 2 7 11.25 26653 chr17 5326089 5326089 C T rs1071648 RPAIN Synonymous SNV L85L 0.292 0.26 0.303 125 343 100 0.321 89 51 10 13 22 9.784 26654 chr19 4510530 4510530 G A rs7250947 PLIN4 Nonsynonymous SNV R1148C 0.099 0.117 0.102 42 116 45 0.108 30 5 2 0 2 22.7 26655 chr6 148865257 148865257 A G rs208696 SASH1 Nonsynonymous SNV Q645R 0.594 0.516 0.575 226 697 198 0.579 169 204 55 50 62 0.002 26656 chr17 5326145 5326145 C G rs12761 RPAIN Nonsynonymous SNV N103K 0.293 0.258 0.303 126 344 99 0.323 89 51 10 13 22 0.001 26657 chr17 45915766 45915766 T C rs34480825 SCRN2 Nonsynonymous SNV Q330R 0.032 0.023 0.027 7 37 9 0.018 8 0 1 0 0 14.43 26658 chr19 4510560 4510560 C T rs7251858 PLIN4 Nonsynonymous SNV A1138T 0.33 0.333 0.272 124 388 128 0.318 80 67 23 11 17 18.11 26659 chr6 148867158 148867158 G A rs777482229 SASH1 Nonsynonymous SNV R880H 0 0 0 0 0 0 0 0 0 0 0 0 35 26660 chr19 4511140 4511140 C G rs7255715 PLIN4 Synonymous SNV G944G 0.632 0.635 0.602 240 742 244 0.615 177 236 77 53 66 1.255 26661 chr19 4511278 4511278 C T rs10422078 PLIN4 Synonymous SNV V898V 0.431 0.432 0.415 175 506 166 0.449 122 1 0 0 1 9.931 26662 chr6 149285719 149285719 A G rs3734377 UST-AS1 0.343 0.305 0.371 135 403 117 0.346 109 76 22 29 24 4.191 26663 chr19 4511281 4511281 G A rs7254934 PLIN4 Synonymous SNV A897A 0.489 0.492 0.493 187 574 189 0.479 145 0 0 0 0 8.076 26664 chr6 149285768 149285768 T C rs3734378 UST-AS1 0.256 0.216 0.306 126 301 83 0.323 90 88 24 28 32 2.494 26665 chr6 149721690 149721690 G A rs237025 SUMO4 Nonsynonymous SNV V55M 0.488 0.51 0.446 172 573 196 0.441 131 135 53 32 34 risk factor 0.001 26666 chr19 4511283 4511283 C T rs80238130 PLIN4 Nonsynonymous SNV A897T 0.43 0.432 0.418 175 505 166 0.449 123 0 0 0 1 0.002 26667 chr17 39506824 39506824 G A rs140696036 KRT33A Nonsynonymous SNV R66C 0.01 0.021 0.014 5 12 8 0.013 4 0 0 0 0 33 26668 chr6 149795522 149795522 G A rs7747948 ZC3H12D Nonsynonymous SNV P53L 0.221 0.229 0.224 97 260 88 0.249 66 35 18 9 8 5.07 26669 chr19 4511284 4511284 A G rs10422854 PLIN4 Synonymous SNV D896D 0.431 0.432 0.422 175 506 166 0.449 124 1 0 0 1 0.066 26670 chr17 46923832 46923832 G A rs62621985 CALCOCO2 Nonsynonymous SNV E70K 0.045 0.036 0.024 15 53 14 0.038 7 0 1 0 0 0.224 26671 chr19 4511350 4511350 T A rs7259721 PLIN4 Nonsynonymous SNV K874N 0.734 0.75 0.84 273 862 288 0.7 247 277 96 101 79 0.016 26672 chr6 149953981 149953981 C T rs9800580 KATNA1 Synonymous SNV L78L 0.393 0.409 0.418 153 461 157 0.392 123 92 33 25 30 12.4 26673 chr19 4511365 4511365 C G rs116973517 PLIN4 Synonymous SNV V869V 0.102 0.125 0.105 39 120 48 0.1 31 3 1 0 0 1.905 26674 chr6 149983216 149983216 G A rs3924871 LATS1 Synonymous SNV D734D 0.399 0.409 0.418 152 469 157 0.39 123 92 33 24 30 2.668 26675 chr19 4511453 4511453 G A rs7255187 PLIN4 Nonsynonymous SNV A840V 0.871 0.852 0.861 328 1023 327 0.841 253 449 137 109 142 0.302 26676 chr17 54921494 54921494 A C rs3760158 DGKE Synonymous SNV T193T 0.734 0.714 0.68 275 862 274 0.705 200 314 97 70 96 Benign 2.188 26677 chr17 39538435 39538435 C T rs776698603 KRT34 Nonsynonymous SNV V64M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.4 26678 chr6 150004779 150004779 A G rs3798761 LATS1 Synonymous SNV S202S 0.399 0.409 0.418 152 468 157 0.39 123 91 33 24 30 0.016 26679 chr17 54588211 54588211 T C rs2241935 ANKFN1 Nonsynonymous SNV Y940H 0.066 0.099 0.075 20 77 38 0.051 22 4 2 0 0 22.6 26680 chr19 4511525 4511525 A G rs7256712 PLIN4 Nonsynonymous SNV M816T 0.865 0.846 0.83 325 1015 325 0.833 244 449 137 104 143 0.001 26681 chr17 54978794 54978794 G A rs205498 TRIM25 Nonsynonymous SNV P358L 0.761 0.768 0.762 314 893 295 0.805 224 343 111 87 123 9.067 26682 chr6 150039148 150039148 G A rs12174349 LOC645967 0.399 0.409 0.33 152 469 157 0.39 97 92 33 21 30 14.28 26683 chr17 47014427 47014427 C T rs200399045 SNF8 Nonsynonymous SNV V85I 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 23.2 26684 chr19 4511647 4511647 C G rs7256387 PLIN4 Nonsynonymous SNV K775N 0.577 0.56 0.527 223 677 215 0.572 155 176 52 23 51 0.001 26685 chr17 55183203 55183203 T C rs2230772 AKAP1 Synonymous SNV D126D 0.402 0.409 0.378 178 472 157 0.456 111 88 34 23 45 0.015 26686 chr6 150039293 150039293 T C rs9767113 LOC645967 0.398 0.409 0.044 151 467 157 0.387 13 91 33 4 30 16.41 26687 chr6 150039361 150039361 C G rs2297932 LOC645967 0.399 0.409 0 152 469 157 0.39 0 92 33 0 30 7.911 26688 chr17 5487164 5487164 C G rs884367 NLRP1 Synonymous SNV S38S 0.181 0.188 0.224 87 212 72 0.223 66 24 8 9 11 Benign 8.467 26689 chr17 55183716 55183716 T C rs1050515 AKAP1 Synonymous SNV D297D 0.509 0.508 0.469 221 598 195 0.567 138 148 51 37 71 0.417 26690 chr19 4511725 4511725 T C rs73920825 PLIN4 Synonymous SNV Q749Q 0.485 0.482 0.381 180 569 185 0.462 112 161 47 12 46 0.002 26691 chr6 150039496 150039496 T C rs2297930 LOC645967 0.399 0.409 0 152 469 157 0.39 0 92 33 0 30 6.758 26692 chr6 150114745 150114745 G A rs4816 PCMT1 Nonsynonymous SNV V143I 0.44 0.43 0.456 167 516 165 0.428 134 105 36 28 35 14.74 26693 chr19 4511730 4511730 T C rs62115190 PLIN4 Nonsynonymous SNV I748V 0.422 0.435 0.361 156 495 167 0.4 106 83 31 7 23 Benign 0.002 26694 chr19 4511830 4511830 A G rs7257142 PLIN4 Synonymous SNV T714T 0.31 0.32 0.306 133 364 123 0.341 90 0 0 0 0 0.002 26695 chr6 150184882 150184882 G C rs9322225 LRP11 Nonsynonymous SNV P92R 0.433 0.453 0.391 167 508 174 0.428 115 119 42 22 40 11.42 26696 chr19 4511908 4511908 C T rs10423606 PLIN4 Synonymous SNV T688T 0.287 0.292 0.296 114 337 112 0.292 87 3 0 4 0 11.59 26697 chr17 56247101 56247101 C A rs60994383 OR4D2 Nonsynonymous SNV L29I 0.233 0.234 0.248 68 274 90 0.174 73 43 10 11 6 0.007 26698 chr19 4511920 4511920 T C rs28460600 PLIN4 Synonymous SNV T684T 0.136 0.146 0.122 57 160 56 0.146 36 5 3 0 6 0.004 26699 chr19 4511927 4511927 G A rs10422025 PLIN4 Nonsynonymous SNV A682V 0.37 0.398 0.367 147 434 153 0.377 108 88 36 19 27 0.003 26700 chr6 150209717 150209717 C G rs2342767 RAET1E Nonsynonymous SNV V201L 0.45 0.453 0.418 181 528 174 0.464 123 118 39 24 43 9.347 26701 chr17 47284735 47284735 T C rs35638197 GNGT2 Nonsynonymous SNV Q17R 0.078 0.052 0.051 18 92 20 0.046 15 3 0 0 1 24.6 26702 chr17 56233034 56233034 C A rs7218964 OR4D1 Nonsynonymous SNV L174I 0.112 0.128 0.173 58 131 49 0.149 51 10 3 6 3 17.29 26703 chr19 4511929 4511929 A G rs10424401 PLIN4 Synonymous SNV A681A 0.372 0.409 0.371 152 437 157 0.39 109 89 38 20 29 0.337 26704 chr6 150210681 150210681 G A rs9371533 RAET1E Nonsynonymous SNV T106I 0.486 0.471 0.469 196 570 181 0.503 138 129 42 31 49 0.001 26705 chr19 4511955 4511955 T C rs7260518 PLIN4 Nonsynonymous SNV S673G 0.794 0.802 0.806 308 932 308 0.79 237 411 136 97 128 0.005 26706 chr6 76344431 76344431 C T rs17414086 SENP6 Nonsynonymous SNV T121M 0.382 0.352 0.32 148 449 135 0.379 94 80 17 12 23 22.4 26707 chr19 4512324 4512324 C T rs200529034 PLIN4 Nonsynonymous SNV V550I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.06 26708 chr6 150210685 150210685 C T rs9383921 RAET1E Nonsynonymous SNV A105T 0.45 0.453 0.415 181 528 174 0.464 122 118 39 23 43 3.786 26709 chr19 4512409 4512409 T C rs10410197 PLIN4 Synonymous SNV V521V 0.127 0.156 0.122 49 149 60 0.126 36 8 6 2 5 0.301 26710 chr6 76376552 76376552 G A rs17414687 SENP6 Synonymous SNV A366A 0.391 0.359 0.323 149 459 138 0.382 95 81 17 12 23 6.739 26711 chr17 56436109 56436109 C T rs34523089 RNF43 Nonsynonymous SNV R216H 0.195 0.185 0.201 73 229 71 0.187 59 25 7 5 4 25.4 26712 chr6 150210723 150210723 C T rs6925151 RAET1E Nonsynonymous SNV R92H 0.294 0.302 0.289 110 345 116 0.282 85 51 20 15 15 0.09 26713 chr19 4512514 4512514 G C rs7259625 PLIN4 Synonymous SNV G486G 0.278 0.323 0.34 121 326 124 0.31 100 47 24 10 22 0.844 26714 chr6 76425288 76425288 A G rs9250 SENP6 Nonsynonymous SNV Y1099C 0.39 0.359 0.313 148 458 138 0.379 92 81 17 12 23 0.011 26715 chr17 47589311 47589311 G A rs141901124 NGFR Synonymous SNV T293T 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 Benign 15.31 26716 chr19 4512613 4512613 T G rs74327986 PLIN4 Synonymous SNV T453T 0.054 0.047 0.058 22 63 18 0.056 17 1 1 0 0 0.044 26717 chr17 47210469 47210469 G A rs117575112 B4GALNT2 Nonsynonymous SNV E28K 0.083 0.073 0.044 28 97 28 0.072 13 3 0 1 0 14.98 26718 chr19 4512629 4512629 C T rs146679364 PLIN4 Nonsynonymous SNV R448K 0.054 0.047 0.058 22 63 18 0.056 17 1 1 0 0 0.041 26719 chr6 150211100 150211100 T C rs3798763 RAET1E Synonymous SNV E53E 0.29 0.302 0.286 108 341 116 0.277 84 49 20 14 15 0.035 26720 chr17 56438301 56438301 G A rs2680701 RNF43 Nonsynonymous SNV P104L 0.2 0.174 0.173 65 235 67 0.167 51 27 5 6 9 24 26721 chr6 76551034 76551034 G A rs777614964 MYO6 Nonsynonymous SNV C252Y 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 Uncertain significance 24.2 26722 chr6 150211123 150211123 A T rs2151910 RAET1E Nonsynonymous SNV Y46N 0.801 0.789 0.861 316 940 303 0.81 253 371 117 107 125 0.002 26723 chr19 4512636 4512636 A C rs140230284 PLIN4 Nonsynonymous SNV L446V 0.054 0.047 0.058 22 63 18 0.056 17 1 1 0 0 0.001 26724 chr6 79657391 79657391 G A rs1984195 PHIP Synonymous SNV V1385V 0.503 0.544 0.537 199 591 209 0.51 158 159 54 45 49 12.95 26725 chr17 4689313 4689313 G C rs2279961 VMO1 Nonsynonymous SNV T77S 0.054 0.057 0.048 12 63 22 0.031 14 3 1 0 0 24.4 26726 chr17 47795035 47795035 G A rs35495960 FAM117A Synonymous SNV P250P 0.039 0.031 0.034 9 46 12 0.023 10 0 0 0 0 9.25 26727 chr6 150716696 150716696 T C rs612421 IYD Nonsynonymous SNV C265R 0.9 0.898 0.908 335 1057 345 0.859 267 474 158 120 145 Benign 0.004 26728 chr6 79679577 79679577 A G rs7742431 PHIP Synonymous SNV D1060D 0.521 0.563 0.544 205 612 216 0.526 160 168 58 46 53 1.5 26729 chr19 4512648 4512648 C T rs145840950 PLIN4 Nonsynonymous SNV G442S 0.053 0.042 0.058 22 62 16 0.056 17 1 1 0 0 20.4 26730 chr17 47903381 47903381 C T rs61749929 KAT7 Synonymous SNV V331V 0.083 0.109 0.15 35 97 42 0.09 44 2 0 2 3 18.49 26731 chr6 151121915 151121915 G A rs2073061 PLEKHG1 Synonymous SNV E191E 0.451 0.414 0.469 177 530 159 0.454 138 121 25 35 31 9.482 26732 chr19 4512649 4512649 A G rs200062551 PLIN4 Synonymous SNV T441T 0.053 0.047 0.058 21 62 18 0.054 17 1 1 0 0 0.017 26733 chr19 4512661 4512661 G A rs58830758 PLIN4 Synonymous SNV C437C 0.064 0.055 0.071 25 75 21 0.064 21 2 1 0 0 0.085 26734 chr6 151152257 151152257 A G rs926624 PLEKHG1 Synonymous SNV K631K 0.275 0.292 0.187 108 323 112 0.277 55 46 15 6 10 0.942 26735 chr17 56540267 56540267 C T rs3803752 HSF5 Nonsynonymous SNV S473N 0.113 0.133 0.126 52 133 51 0.133 37 5 3 1 4 18.54 26736 chr19 4512669 4512669 T C rs55901236 PLIN4 Nonsynonymous SNV T435A 0.566 0.557 0.524 223 665 214 0.572 154 211 66 46 76 0.036 26737 chr17 47583581 47583581 A G rs55759007 LOC100288866 0.096 0.107 0.116 34 113 41 0.087 34 14 1 1 1 2.338 26738 chr6 151152656 151152656 T C rs803411 PLEKHG1 Synonymous SNV T764T 0.671 0.698 0.646 268 788 268 0.687 190 274 93 62 92 0.003 26739 chr17 4692559 4692559 G T rs2304969 GLTPD2 Nonsynonymous SNV V49F 0.116 0.122 0.122 40 136 47 0.103 36 10 1 2 1 15.67 26740 chr19 4512676 4512676 T G rs59593546 PLIN4 Synonymous SNV T432T 0.043 0.042 0.068 14 50 16 0.036 20 2 1 0 0 0.017 26741 chr6 151161369 151161369 C T rs112259431 PLEKHG1 Synonymous SNV S1126S 0.007 0.005 0.003 7 8 2 0.018 1 0 0 0 0 3.784 26742 chr19 4512686 4512686 G A rs774154543 PLIN4 Nonsynonymous SNV A429V 0.009 0.008 0.02 2 11 3 0.005 6 1 0 0 0 0.009 26743 chr17 46926615 46926615 G A rs550510 CALCOCO2 Nonsynonymous SNV G68E 0.158 0.156 0.099 48 185 60 0.123 29 17 5 3 4 14.52 26744 chr6 151627034 151627034 A G rs2294792 AKAP12 Synonymous SNV T105T 0.389 0.43 0.333 147 457 165 0.377 98 105 40 14 28 0.008 26745 chr17 39156100 39156100 A G rs142496803 KRTAP3-2 Synonymous SNV D2D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 26746 chr6 80228535 80228535 T G rs34068461 LCA5 Nonsynonymous SNV D26A 0.126 0.13 0.15 58 148 50 0.149 44 10 4 4 7 Benign 23 26747 chr6 151669875 151669875 A G rs10872670 AKAP12 Nonsynonymous SNV K12E 0.767 0.766 0.718 306 900 294 0.785 211 351 113 84 119 0.004 26748 chr19 4512687 4512687 C G rs759414418 PLIN4 Nonsynonymous SNV A429P 0.009 0.008 0.017 2 11 3 0.005 5 1 0 0 0 18.58 26749 chr17 39977249 39977249 T C rs61749879 FKBP10 Nonsynonymous SNV I436T 0.006 0.018 0.007 0 7 7 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 26750 chr17 56584508 56584508 T C rs2302190 MTMR4 Nonsynonymous SNV S280G 0.261 0.247 0.269 95 306 95 0.244 79 35 12 8 12 11.74 26751 chr19 4512689 4512689 - CAGTCT rs778472101 PLIN4 I428delinsKTV 0 0 0.003 0 0 0 0 1 0 0 0 0 26752 chr6 151670172 151670172 A C rs3734799 AKAP12 Nonsynonymous SNV K111Q 0.709 0.69 0.745 286 832 265 0.733 219 299 94 83 106 0.139 26753 chr19 4513143 4513143 C T rs4807595 PLIN4 Nonsynonymous SNV G277S 0.876 0.888 0.83 334 1029 341 0.856 244 488 163 114 159 8.365 26754 chr17 56598655 56598655 C T rs1057065 SEPTIN4 Synonymous SNV R259R 0.042 0.042 0.037 23 49 16 0.059 11 0 0 1 1 10.54 26755 chr6 82461727 82461727 - CCGCCGAAGTCGCCG rs754008809 TENT5A G45_G46insDFGGG 0.25 0.286 0.248 146 294 110 0.374 73 105 42 33 57 26756 chr6 151670690 151670690 G A rs35341741 AKAP12 Synonymous SNV S283S 0.138 0.148 0.146 57 162 57 0.146 43 16 6 5 2 7.908 26757 chr19 4513144 4513144 A G rs4807596 PLIN4 Synonymous SNV T276T 0.877 0.888 0.83 334 1030 341 0.856 244 488 163 114 159 0.041 26758 chr17 56620167 56620167 C T rs17822735 SEPTIN4 Nonsynonymous SNV G461S 0.112 0.135 0.122 52 132 52 0.133 36 4 3 1 4 0.029 26759 chr6 151670897 151670897 T C rs900654 AKAP12 Synonymous SNV A352A 0.766 0.753 0.776 316 899 289 0.81 228 347 107 89 127 0.077 26760 chr19 4513559 4513559 A G rs4807597 PLIN4 Nonsynonymous SNV V138A 0.955 0.94 0.952 360 1121 361 0.923 280 534 169 134 165 0.014 26761 chr6 151672285 151672285 A G rs13212161 AKAP12 Nonsynonymous SNV E815G 0.143 0.161 0.15 66 168 62 0.169 44 17 7 5 4 9.257 26762 chr6 83880167 83880167 C T rs473267 PGM3 Nonsynonymous SNV D385N 0.196 0.167 0.228 61 230 64 0.156 67 20 1 7 4 Benign 16.89 26763 chr17 56620501 56620501 A G rs17222523 SEPTIN4 Synonymous SNV H349H 0.112 0.135 0.122 52 132 52 0.133 36 4 3 1 4 0.007 26764 chr19 45150614 45150614 G A rs1058402 PVR Nonsynonymous SNV A67T 0.039 0.036 0.041 14 46 14 0.036 12 2 0 0 0 0.001 26765 chr17 56676368 56676368 T C rs389389 TEX14 Nonsynonymous SNV N786D 0.267 0.24 0.194 79 314 92 0.203 57 33 8 6 11 0.002 26766 chr6 151673589 151673589 G A rs12201388 AKAP12 Nonsynonymous SNV E1250K 0.139 0.151 0.15 58 163 58 0.149 44 17 6 5 2 22.4 26767 chr19 45162038 45162038 A G rs203710 PVR Nonsynonymous SNV I340M 0.997 0.997 0.993 385 1170 383 0.987 292 583 191 145 190 0.001 26768 chr17 48431032 48431032 G A rs739990 XYLT2 Synonymous SNV E59E 0.174 0.167 0.143 73 204 64 0.187 42 17 5 4 3 6.864 26769 chr6 83881740 83881740 T C rs542948 PGM3 Synonymous SNV E346E 0.196 0.167 0.228 61 230 64 0.156 67 20 1 7 4 Benign 3.767 26770 chr17 48431197 48431197 C T rs739989 XYLT2 Synonymous SNV P114P 0.173 0.167 0.143 73 203 64 0.187 42 17 5 4 3 12.38 26771 chr6 151674116 151674116 - GAG rs113116275 AKAP12 E1426_D1427insE 0.768 0.753 0.772 315 902 289 0.808 227 349 107 88 126 26772 chr17 40001659 40001659 T C rs34933374 KLHL10 Synonymous SNV T234T 0.061 0.052 0.027 23 72 20 0.059 8 2 1 0 0 0.239 26773 chr19 45206695 45206695 G A rs894189 CEACAM16 Synonymous SNV T38T 0.072 0.055 0.078 24 84 21 0.062 23 4 0 0 1 Benign 4.254 26774 chr17 48432324 48432324 G C rs12451299 XYLT2 Nonsynonymous SNV R305T 0.17 0.167 0.139 68 199 64 0.174 41 16 5 4 3 9.671 26775 chr6 84233352 84233352 C A rs34790062 PRSS35 Synonymous SNV I64I 0.006 0.016 0.01 7 7 6 0.018 3 0 0 1 0 Benign 12.76 26776 chr6 151674270 151674270 G A rs34713284 AKAP12 Nonsynonymous SNV V1477M 0.138 0.151 0.15 58 162 58 0.149 44 16 6 5 2 0.087 26777 chr17 4700088 4700088 T C rs11552523 PSMB6 Synonymous SNV T56T 0.009 0.003 0.017 1 11 1 0.003 5 0 0 0 0 15.69 26778 chr19 4525046 4525046 A G rs1610090 PLIN5 Nonsynonymous SNV C255R 0.859 0.846 0.789 337 1008 325 0.864 232 433 138 101 146 0.003 26779 chr17 56636908 56636908 T C rs9903050 TEX14 Synonymous SNV K1391K 0.231 0.232 0.167 83 271 89 0.213 49 27 10 5 10 0.082 26780 chr6 151674326 151674326 A C rs3823310 AKAP12 Nonsynonymous SNV E1495D 0.572 0.542 0.578 231 671 208 0.592 170 199 62 50 65 0.035 26781 chr19 45296832 45296832 A G rs61750955 CBLC Synonymous SNV S367S 0.056 0.078 0.088 32 66 30 0.082 26 1 2 1 1 0.159 26782 chr19 45297479 45297479 C T rs116023028 CBLC Nonsynonymous SNV P389S 0.032 0.044 0.078 14 37 17 0.036 23 1 2 1 1 10.17 26783 chr17 56643109 56643109 A G rs34818467 TEX14 Synonymous SNV N1321N 0.112 0.135 0.119 52 131 52 0.133 35 4 3 1 4 1.845 26784 chr17 40125864 40125864 G A rs2070106 CNP Synonymous SNV G376G 0.346 0.346 0.35 149 406 133 0.382 103 74 25 17 28 9.198 26785 chr6 151686905 151686905 C T rs11155787 ZBTB2 Synonymous SNV E432E 0.552 0.526 0.565 217 648 202 0.556 166 179 60 48 56 9.115 26786 chr19 45316804 45316804 C T rs3810141 BCAM Synonymous SNV C237C 0.086 0.07 0.095 40 101 27 0.103 28 5 1 3 2 9.932 26787 chr19 45316807 45316807 C T rs3810140 BCAM Synonymous SNV A238A 0.086 0.07 0.095 40 101 27 0.103 28 5 1 3 2 12.44 26788 chr6 151859314 151859314 A G rs4870034 CCDC170 Synonymous SNV E107E 0.641 0.661 0.68 237 752 254 0.608 200 248 84 71 77 0.044 26789 chr19 4538599 4538599 G A rs966384 LRG1 Nonsynonymous SNV P133S 0.319 0.318 0.248 125 375 122 0.321 73 54 16 10 22 0.06 26790 chr6 151894340 151894340 C T rs12205837 CCDC170 Nonsynonymous SNV A269V 0.099 0.068 0.085 53 116 26 0.136 25 7 2 1 3 22.1 26791 chr17 59482897 59482897 C G rs527685395 TBX2 Synonymous SNV A462A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.27 26792 chr19 45389224 45389224 A G rs283814 NECTIN2 Synonymous SNV P409P 0.917 0.901 0.905 350 1077 346 0.897 266 494 157 120 157 0.171 26793 chr6 151894505 151894505 T C rs953767 CCDC170 Nonsynonymous SNV F324S 0.834 0.836 0.867 320 979 321 0.821 255 412 135 110 132 6.644 26794 chr19 45409167 45409167 C G rs440446 APOE Nonsynonymous SNV N14K 0.586 0.578 0.551 254 688 222 0.651 162 228 73 48 85 6.762 26795 chr17 48455985 48455985 A T rs2189712 EME1 Synonymous SNV T311T 0.188 0.185 0.167 79 221 71 0.203 49 24 7 6 6 0.002 26796 chr6 87796233 87796233 G A rs2011192 CGA 0.486 0.503 0.398 162 570 193 0.415 117 142 49 28 29 0.077 26797 chr6 151917660 151917660 G A rs34430497 CCDC170 Nonsynonymous SNV R553Q 0.055 0.052 0.048 35 65 20 0.09 14 3 2 2 1 10.16 26798 chr19 45430280 45430280 C G rs5112 APOC1P1 0.567 0.568 0.558 236 666 218 0.605 164 187 67 45 67 5.522 26799 chr17 48456193 48456193 T C rs12450550 EME1 Nonsynonymous SNV I350T 0.188 0.182 0.167 79 221 70 0.203 49 24 6 6 6 6.904 26800 chr19 45448036 45448036 T C rs1132899 APOC4 Nonsynonymous SNV L36P 0.514 0.516 0.48 198 604 198 0.508 141 174 57 33 50 0.004 26801 chr6 151936677 151936677 G A rs6929137 CCDC170 Nonsynonymous SNV V604I 0.342 0.393 0.323 143 402 151 0.367 95 73 30 13 28 Likely pathogenic 11.74 26802 chr19 45448465 45448465 T G rs5167 APOC4 Nonsynonymous SNV L96R 0.408 0.391 0.34 150 479 150 0.385 100 99 30 13 27 0.006 26803 chr17 58678231 58678231 C T rs149400522 PPM1D Synonymous SNV A152A 0.019 0.01 0.007 7 22 4 0.018 2 0 0 0 0 Benign 13.72 26804 chr6 151939181 151939181 G A rs3734804 CCDC170 Nonsynonymous SNV V683I 0.552 0.534 0.578 231 648 205 0.592 170 185 54 48 71 8.242 26805 chr19 45476422 45476422 T C rs204481 CLPTM1 Synonymous SNV A74A 0.959 0.964 0.942 372 1126 370 0.954 277 540 178 130 177 2.898 26806 chr19 45490570 45490570 A G rs3786505 CLPTM1 Synonymous SNV P295P 0.385 0.362 0.347 144 452 139 0.369 102 87 23 17 23 4.416 26807 chr6 152129077 152129077 T C rs2077647 ESR1 Synonymous SNV S10S 0.457 0.464 0.486 153 537 178 0.392 143 128 42 32 29 0.053 26808 chr17 48247689 48247689 C T rs1801191 SGCA Synonymous SNV V311V 0.042 0.031 0.01 10 49 12 0.026 3 1 0 0 0 Benign 12.99 26809 chr19 45490636 45490636 T C rs204468 CLPTM1 Synonymous SNV G317G 0.572 0.599 0.599 230 672 230 0.59 176 194 68 50 64 0.285 26810 chr17 60683503 60683503 A G rs8078132 TLK2 Synonymous SNV P592P 0.59 0.594 0.548 235 693 228 0.603 161 203 68 46 71 7.676 26811 chr6 152201875 152201875 T C rs4986934 ESR1 Synonymous SNV R243R 0.965 0.979 0.986 379 1133 376 0.972 290 548 184 143 184 5.407 26812 chr19 45561063 45561063 A G rs4803794 CLASRP Nonsynonymous SNV K112E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.705 26813 chr17 60742279 60742279 C T rs2302242 MRC2 Synonymous SNV S163S 0.016 0.008 0.014 11 19 3 0.028 4 1 0 1 0 17.25 26814 chr6 152265522 152265522 G C rs1801132 ESR1 Synonymous SNV P325P 0.764 0.711 0.782 301 897 273 0.772 230 336 100 88 115 3.941 26815 chr19 45801018 45801018 T C rs173179 MARK4 Synonymous SNV R561R 0.989 0.995 0.99 388 1161 382 0.995 291 575 190 145 193 1.733 26816 chr6 152464839 152464839 A G rs2256135 SYNE1 Synonymous SNV R524R 0.521 0.503 0.571 216 612 193 0.554 168 157 48 54 60 Benign 0.979 26817 chr19 45810035 45810035 A G rs4884 CKM Synonymous SNV I373I 0.681 0.622 0.684 241 799 239 0.618 201 262 69 73 73 9.51 26818 chr17 40828441 40828441 C T rs769951120 PLEKHH3 Synonymous SNV P47P 0.001 0 0 5 1 0 0.013 0 0 0 0 0 15.61 26819 chr17 48597114 48597114 C T rs28498091 MYCBPAP Synonymous SNV H309H 0.095 0.078 0.078 47 111 30 0.121 23 6 1 2 1 5.465 26820 chr19 45815033 45815033 G T rs17875616 CKM Synonymous SNV R209R 0.109 0.104 0.112 56 128 40 0.144 33 8 0 1 1 7.779 26821 chr6 152466674 152466674 T C rs2747662 SYNE1 Synonymous SNV E486E 0.348 0.339 0.374 150 409 130 0.385 110 75 19 19 31 Benign 18.25 26822 chr19 45818835 45818835 A G rs1133190 CKM Synonymous SNV P123P 0.572 0.547 0.493 190 671 210 0.487 145 191 57 43 46 0.195 26823 chr6 152469188 152469188 C G rs2252755 SYNE1 Nonsynonymous SNV G478A 0.348 0.346 0.384 151 409 133 0.387 113 77 20 20 33 Benign 9.179 26824 chr19 45849909 45849909 A G rs9749618 KLC3 Synonymous SNV E122E 0.318 0.299 0.388 136 373 115 0.349 114 73 27 29 36 8.425 26825 chr17 40913366 40913366 C T rs9892728 RAMP2 Synonymous SNV L29L 0.434 0.411 0.078 177 510 158 0.454 23 183 58 11 56 13.13 26826 chr19 45854919 45854919 T G rs13181 ERCC2 Nonsynonymous SNV K751Q 0.413 0.422 0.429 166 485 162 0.426 126 89 33 31 39 Benign 10.56 26827 chr17 48601096 48601096 C T rs78242165 MYCBPAP Nonsynonymous SNV A544V 0.016 0.016 0.01 6 19 6 0.015 3 0 0 0 0 26 26828 chr6 88046800 88046800 G A rs1048893 SMIM8 Synonymous SNV E17E 0.067 0.073 0.068 26 79 28 0.067 20 7 1 1 0 11.45 26829 chr6 152469331 152469331 C T rs2252748 SYNE1 Synonymous SNV P430P 0.3 0.284 0.316 134 352 109 0.344 93 54 14 10 23 Benign 17.09 26830 chr6 88240570 88240570 C T rs35862137 RARS2 Nonsynonymous SNV V60M 0.009 0.005 0.017 2 11 2 0.005 5 0 0 0 0 Benign 0.551 26831 chr19 45855524 45855524 G A rs1052555 ERCC2 Synonymous SNV D711D 0.372 0.38 0.398 153 437 146 0.392 117 70 27 29 35 Benign 7.036 26832 chr17 59560751 59560751 G A rs117324438 TBX4 Synonymous SNV K504K 0.01 0.016 0.007 5 12 6 0.013 2 0 0 0 0 Benign 10.74 26833 chr19 45867259 45867259 C T rs1799793 ERCC2 Nonsynonymous SNV D288N 0.399 0.391 0.412 162 468 150 0.415 121 90 28 29 33 Benign 24 26834 chr6 152489294 152489294 T C rs998147 SYNE1 Nonsynonymous SNV S16G 0.794 0.797 0.823 318 932 306 0.815 242 374 124 97 131 16.79 26835 chr6 89888744 89888744 C T rs1796743 GABRR1 Synonymous SNV A378A 0.269 0.279 0.265 124 316 107 0.318 78 39 19 12 19 11.2 26836 chr6 152540278 152540278 A C rs2147377 SYNE1 Nonsynonymous SNV F7231V 0.989 0.974 0.993 383 1161 374 0.982 292 575 182 145 188 Benign/Likely benign 0.977 26837 chr19 45868309 45868309 T G rs238406 ERCC2 Synonymous SNV R132R 0.588 0.555 0.612 245 690 213 0.628 180 193 53 53 76 Benign 10.63 26838 chr19 45912002 45912002 A C rs735482 CD3EAP Nonsynonymous SNV K261T 0.17 0.146 0.16 62 200 56 0.159 47 11 7 7 8 0.198 26839 chr17 61315272 61315272 G A rs2460111 TANC2 Synonymous SNV Q215Q 0.451 0.458 0.395 167 529 176 0.428 116 118 39 28 41 5.497 26840 chr6 152631140 152631140 C T SYNE1 Nonsynonymous SNV E5607K 0.002 0 0 4 2 0 0.01 0 0 0 0 0 23.5 26841 chr6 89926966 89926966 T C rs12200969 GABRR1 Nonsynonymous SNV M26V 0.284 0.26 0.286 97 334 100 0.249 84 50 13 10 10 0.012 26842 chr19 45912343 45912343 A G rs762562 CD3EAP Nonsynonymous SNV K375E 0.17 0.146 0.16 62 200 56 0.159 47 11 7 7 8 0.009 26843 chr17 59969000 59969000 T C rs753765 INTS2 Synonymous SNV Q583Q 0.073 0.089 0.075 28 86 34 0.072 22 2 2 0 0 2.83 26844 chr6 152647681 152647681 A T rs2306916 SYNE1 Nonsynonymous SNV L4944M 0.68 0.651 0.677 291 798 250 0.746 199 272 86 68 107 Benign 16.07 26845 chr17 48614031 48614031 G A rs139812468 EPN3 Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.838 26846 chr6 89967498 89967498 G A rs282129 GABRR2 Nonsynonymous SNV T430M 0.17 0.167 0.17 66 199 64 0.169 50 12 3 5 8 17.41 26847 chr19 45912406 45912406 G A rs2336219 CD3EAP Nonsynonymous SNV D396N 0.17 0.146 0.16 62 200 56 0.159 47 11 7 7 8 0.035 26848 chr6 152652034 152652034 A T rs6911096 SYNE1 Nonsynonymous SNV S4525T 0.673 0.641 0.673 286 790 246 0.733 198 266 83 67 104 Benign 0.001 26849 chr6 89978866 89978866 C T rs74923708 GABRR2 Nonsynonymous SNV D126N 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 34 26850 chr19 45923653 45923653 A G rs11615 ERCC1 Synonymous SNV N118N 0.44 0.419 0.408 178 516 161 0.456 120 112 32 26 46 drug response 0.3 26851 chr19 46002456 46002456 G T rs3745821 PPM1N Synonymous SNV P242P 0.118 0.094 0.102 42 139 36 0.108 30 5 1 4 4 14.01 26852 chr17 48619272 48619272 G A rs111678638 EPN3 Synonymous SNV Q551Q 0.069 0.052 0.034 35 81 20 0.09 10 2 0 0 1 8.925 26853 chr17 60741917 60741917 G A rs2014055 MRC2 Nonsynonymous SNV V43I 0.167 0.169 0.187 73 196 65 0.187 55 19 5 5 3 11.43 26854 chr6 152658142 152658142 T C rs9479297 SYNE1 Nonsynonymous SNV K4050R 0.659 0.625 0.667 289 774 240 0.741 196 262 81 66 107 Benign 6.36 26855 chr17 61574712 61574712 G A rs4365 ACE Synonymous SNV E687E 0.026 0.044 0.017 7 30 17 0.018 5 0 1 0 0 Benign 11.44 26856 chr19 46057081 46057081 A G rs3826860 OPA3 Synonymous SNV A77A 0.596 0.615 0.653 226 700 236 0.579 192 219 68 66 60 Benign 15.71 26857 chr17 48619290 48619290 G A rs112657244 EPN3 Synonymous SNV P557P 0.069 0.052 0.034 35 81 20 0.09 10 2 0 0 1 15.17 26858 chr6 90009546 90009546 C T rs148225612 GABRR2 Nonsynonymous SNV R51Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 7.613 26859 chr19 46144814 46144814 G A rs28602630 EML2-AS1 0.085 0.086 0.129 28 100 33 0.072 38 4 1 3 1 14 26860 chr17 61607708 61607708 T C rs7221517 KCNH6 Synonymous SNV H160H 0.391 0.427 0.425 135 459 164 0.346 125 86 35 23 26 0.002 26861 chr6 152660451 152660451 G A rs71575926 SYNE1 Synonymous SNV L4021L 0.092 0.102 0.102 43 108 39 0.11 30 4 1 4 3 Benign/Likely benign 10.64 26862 chr17 48701800 48701800 C T rs2301835 CACNA1G Synonymous SNV L1976L 0.169 0.133 0.116 52 198 51 0.133 34 13 2 2 2 8.324 26863 chr19 46206262 46206262 G A rs17850756 QPCTL Synonymous SNV L274L 0.394 0.375 0.34 138 463 144 0.354 100 106 23 20 22 0.651 26864 chr6 152665261 152665261 C A rs4645434 SYNE1 Nonsynonymous SNV E3989D 0.589 0.568 0.554 242 691 218 0.621 163 215 62 45 78 Benign 5.046 26865 chr19 46216642 46216642 G T rs11537711 FBXO46 Nonsynonymous SNV P38T 0.11 0.117 0.099 38 129 45 0.097 29 11 4 1 5 0.001 26866 chr17 61619663 61619663 A G rs41280098 KCNH6 Synonymous SNV A672A 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 6.351 26867 chr6 152674433 152674433 T C rs144797744 SYNE1 Nonsynonymous SNV T3725A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.123 26868 chr19 46262286 46262286 C A rs725660 BHMG1 Nonsynonymous SNV T388N 0.463 0.443 0.398 163 544 170 0.418 117 138 42 23 30 24 26869 chr17 48761105 48761105 C T rs2277624 ABCC3 Synonymous SNV H1314H 0.239 0.211 0.211 102 280 81 0.262 62 39 8 10 12 12.64 26870 chr6 152675854 152675854 A G rs9397102 SYNE1 Synonymous SNV S3622S 0.587 0.573 0.554 246 689 220 0.631 163 212 62 47 77 Benign 0.387 26871 chr17 4876196 4876196 G A CAMTA2 Nonsynonymous SNV R793C 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 34 26872 chr6 90338863 90338863 C T rs9353687 ANKRD6 Synonymous SNV C447C 0.17 0.169 0.235 68 199 65 0.174 69 12 7 7 6 13.62 26873 chr6 152683413 152683413 G T rs4407724 SYNE1 Synonymous SNV G3404G 0.652 0.641 0.616 263 765 246 0.674 181 260 80 57 88 Benign 3.334 26874 chr19 46268902 46268902 C T rs2341097 SIX5 Nonsynonymous SNV V693M 0.463 0.443 0.398 164 543 170 0.421 117 136 42 23 31 Benign 24.8 26875 chr17 48768486 48768486 A G rs1051640 ABCC3 Synonymous SNV E1503E 0.187 0.159 0.156 85 219 61 0.218 46 26 6 5 8 10.66 26876 chr6 152694184 152694184 T C rs6913579 SYNE1 Synonymous SNV E3172E 0.514 0.521 0.449 213 604 200 0.546 132 159 52 35 59 Benign 2.256 26877 chr17 60824224 60824224 A G rs17746153 MARCHF10 0.33 0.339 0.333 137 388 130 0.351 98 56 20 17 19 2.23 26878 chr19 46269313 46269313 G C rs2014377 SIX5 Nonsynonymous SNV L556V 0.851 0.865 0.796 324 999 332 0.831 234 429 145 97 136 0.088 26879 chr6 153296541 153296541 G C rs2073260 FBXO5 Nonsynonymous SNV Q61E 0.577 0.576 0.544 213 677 221 0.546 160 192 64 39 62 0.003 26880 chr19 46289392 46289392 G C rs8110017 DMWD Synonymous SNV P454P 0.857 0.865 0.799 324 1006 332 0.831 235 428 145 95 135 0.005 26881 chr17 42084067 42084067 T C rs55708447 NAGS Synonymous SNV F362F 0.105 0.128 0.129 52 123 49 0.133 38 7 5 1 3 Benign/Likely benign 9.821 26882 chr19 46289503 46289503 C T rs8109951 DMWD Synonymous SNV P417P 0.464 0.445 0.398 164 545 171 0.421 117 139 42 23 31 4.564 26883 chr6 153323594 153323594 C T rs3818123 MTRF1L Nonsynonymous SNV R76Q 0.583 0.557 0.571 220 684 214 0.564 168 192 56 45 67 7.02 26884 chr19 46319415 46319415 G C rs1132645 SYMPK Synonymous SNV A1127A 0.26 0.221 0.289 93 305 85 0.238 85 87 25 18 24 1.608 26885 chr6 153323709 153323709 T C rs3818125 MTRF1L Nonsynonymous SNV T38A 0.572 0.544 0.548 215 672 209 0.551 161 191 56 45 66 0.001 26886 chr19 46443739 46443739 T G rs28742045 NOVA2 Synonymous SNV A287A 0.633 0.612 0.554 250 743 235 0.641 163 247 77 62 76 6.325 26887 chr17 49048143 49048143 C T rs201587896 SPAG9 Nonsynonymous SNV E1115K 0.005 0.003 0 1 6 1 0.003 0 1 0 0 0 21.2 26888 chr19 46443886 46443886 C A rs1047061 NOVA2 Synonymous SNV L238L 0.58 0.594 0.575 229 681 228 0.587 169 206 68 58 63 10.15 26889 chr19 46511548 46511548 T C rs2287305 CCDC61 Synonymous SNV H180H 0.991 0.995 0.993 389 1163 382 0.997 292 580 191 145 194 2.017 26890 chr6 153365100 153365100 A C rs2295230 RGS17 Synonymous SNV A18A 0.342 0.396 0.361 141 401 152 0.362 106 56 41 20 22 0.019 26891 chr17 40822678 40822678 C T rs2277618 PLEKHH3 Synonymous SNV G489G 0.143 0.138 0.15 73 168 53 0.187 44 6 4 4 9 18.76 26892 chr17 49338275 49338275 G A rs8907 UTP18 Synonymous SNV L110L 0.051 0.065 0.092 25 60 25 0.064 27 3 4 2 1 5.959 26893 chr17 61908556 61908556 C T rs13030 PSMC5 Synonymous SNV L272L 0.336 0.341 0.306 112 394 131 0.287 90 65 21 8 15 12.65 26894 chr19 46520026 46520026 A G rs2287306 CCDC61 Nonsynonymous SNV Q389R 0.724 0.755 0.762 269 850 290 0.69 224 295 112 88 96 5.029 26895 chr6 154414446 154414446 A T rs540825 OPRM1 Nonsynonymous SNV Q402H 0.772 0.799 0.728 310 906 307 0.795 214 354 123 72 123 drug response 3.904 26896 chr19 46521569 46521569 C T rs200930017 CCDC61 Nonsynonymous SNV A488V 0.002 0.008 0.014 4 2 3 0.01 4 0 0 0 0 24 26897 chr6 154428666 154428666 C T rs677830 OPRM1 Stop gain Q411X 0.229 0.201 0.269 80 269 77 0.205 79 35 8 5 9 Benign 3.163 26898 chr17 62026852 62026852 C T rs200947169 SCN4A Nonsynonymous SNV V964I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 26899 chr19 467664 467664 G A rs79399119 ODF3L2 Nonsynonymous SNV R112W 0.009 0.003 0.017 2 11 1 0.005 5 0 0 0 0 32 26900 chr6 154763401 154763401 G A rs6557351 CNKSR3 Synonymous SNV N86N 0.218 0.245 0.238 89 256 94 0.228 70 26 13 12 11 2.222 26901 chr17 41132630 41132630 G A rs754479522 RUNDC1 Nonsynonymous SNV V13M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.13 26902 chr6 154771277 154771277 A G rs9322467 CNKSR3 Synonymous SNV I62I 0.631 0.617 0.602 262 741 237 0.672 177 225 79 47 87 8.944 26903 chr19 46811984 46811984 A G rs2311054 HIF3A Synonymous SNV T102T 0.851 0.867 0.738 335 999 333 0.859 217 431 145 94 143 0.109 26904 chr6 155486519 155486519 G A rs41284214 TIAM2 Synonymous SNV K779K 0.129 0.146 0.129 38 152 56 0.097 38 11 6 1 2 13.36 26905 chr17 62075994 62075994 - A rs76735942 PRR29-AS1 0.641 0.669 0.415 252 752 257 0.646 122 246 79 52 83 26906 chr19 46815499 46815499 T C rs8101480 HIF3A Synonymous SNV D215D 0.915 0.93 0.932 356 1074 357 0.913 274 494 167 127 161 2.475 26907 chr6 155561760 155561760 T C rs4259257 TIAM2 Nonsynonymous SNV S14P 0.994 0.992 0.993 387 1167 381 0.992 292 580 189 145 192 13.79 26908 chr17 62076077 62076077 C G rs62070903 PRR29 Nonsynonymous SNV T24S 0.353 0.333 0.112 131 414 128 0.336 33 77 16 8 24 24.4 26909 chr6 90482397 90482397 T C rs12110451 MDN1 Nonsynonymous SNV I660V 0.169 0.169 0.221 69 198 65 0.177 65 12 7 7 6 22.4 26910 chr19 46973981 46973981 G A rs4803960 PNMA8A Synonymous SNV A104A 0.232 0.276 0.214 94 272 106 0.241 63 32 15 5 11 16.36 26911 chr17 48761053 48761053 G A rs11568591 ABCC3 Nonsynonymous SNV R1297H 0.055 0.073 0.058 18 64 28 0.046 17 0 2 0 0 34 26912 chr19 46974233 46974233 G A rs3826851 PNMA8A Synonymous SNV D20D 0.231 0.273 0.224 95 271 105 0.244 66 32 14 5 11 11.74 26913 chr6 155561796 155561796 C T rs11751128 TIAM2 Nonsynonymous SNV R26C 0.325 0.289 0.299 122 381 111 0.313 88 57 18 9 17 35 26914 chr17 62079286 62079286 G A rs12939821 PRR29 Nonsynonymous SNV C221Y 0.414 0.398 0.456 169 486 153 0.433 134 100 29 29 36 10.29 26915 chr19 47177913 47177913 A G rs314665 PRKD2 Nonsynonymous SNV V678A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.33 26916 chr6 90497589 90497589 A C rs4707569 MDN1 Nonsynonymous SNV F440V 0.152 0.151 0.221 62 178 58 0.159 65 12 7 7 6 23.6 26917 chr17 42476287 42476287 C T rs945947459 GPATCH8 Nonsynonymous SNV G975D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22.7 26918 chr6 155575607 155575607 G A rs3011895 TIAM2 Synonymous SNV E381E 0.472 0.466 0.483 186 554 179 0.477 142 129 47 31 41 15.06 26919 chr17 62121480 62121480 T C rs196912 ERN1 Synonymous SNV T934T 0.735 0.714 0.673 289 863 274 0.741 198 317 95 69 112 3.863 26920 chr19 47212593 47212593 A G rs10423365 MIR320E 0 0 0.514 0 0 0 0 151 0 0 40 0 8.715 26921 chr6 90565242 90565242 A G rs369328 CASP8AP2 Synonymous SNV K93K 0.515 0.547 0.299 185 605 210 0.474 88 172 64 32 46 15.16 26922 chr17 41174025 41174025 A C rs2070835 VAT1 Synonymous SNV P105P 0.361 0.367 0.31 126 424 141 0.323 91 83 25 18 19 0.955 26923 chr6 155750035 155750035 C T rs231954 NOX3 Synonymous SNV E346E 0.555 0.591 0.527 234 652 227 0.6 155 188 66 38 64 13.56 26924 chr19 47223949 47223949 G A rs313841 STRN4 Synonymous SNV H731H 0.143 0.146 0.163 58 168 56 0.149 48 12 4 6 6 7.991 26925 chr17 51900836 51900836 C T rs59657238 KIF2B Nonsynonymous SNV P148S 0.055 0.073 0.051 14 65 28 0.036 15 3 0 1 0 0.093 26926 chr19 47258842 47258842 C T rs2287717 FKRP Synonymous SNV A45A 0.149 0.154 0.16 61 175 59 0.156 47 12 7 6 6 Benign 9 26927 chr17 41223094 41223094 T C rs1799966 BRCA1 Nonsynonymous SNV S1566G 0.354 0.359 0.327 129 416 138 0.331 96 81 25 19 22 Benign 0.547 26928 chr6 155774608 155774608 C T rs34960420 NOX3 Synonymous SNV P90P 0.158 0.156 0.163 70 186 60 0.179 48 13 5 5 7 17.46 26929 chr19 47278859 47278859 C G rs3027961 SLC1A5 Nonsynonymous SNV V310L 0.226 0.258 0.231 75 265 99 0.192 68 36 14 12 4 7.209 26930 chr6 155775980 155775980 G T rs12195525 NOX3 Synonymous SNV R74R 0.158 0.156 0.163 70 186 60 0.179 48 13 5 5 7 10.45 26931 chr17 62517583 62517583 A G rs200178960 CEP95 Nonsynonymous SNV H54R 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 0.001 26932 chr17 41234470 41234470 A G rs1060915 BRCA1 Synonymous SNV S1389S 0.348 0.357 0.327 127 409 137 0.326 96 80 24 19 21 Benign 4.964 26933 chr17 49118881 49118881 C T rs373720454 SPAG9 Nonsynonymous SNV R98H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 26934 chr6 157405930 157405930 G A rs3734441 ARID1B Synonymous SNV A711A 0.536 0.539 0.575 188 629 207 0.482 169 169 57 47 43 Benign 10.44 26935 chr19 47342867 47342867 A C rs312185 AP2S1 Nonsynonymous SNV I55S 0.488 0.422 0.493 176 573 162 0.451 145 140 30 31 34 1.188 26936 chr19 47543774 47543774 G A rs3745615 NPAS1 Synonymous SNV Q169Q 0.699 0.659 0.636 240 821 253 0.615 187 293 83 64 78 8.643 26937 chr6 157963743 157963743 G A rs2365611 ZDHHC14 Synonymous SNV T124T 0.424 0.409 0.415 164 498 157 0.421 122 103 26 29 36 13.1 26938 chr17 41244000 41244000 T C rs16942 BRCA1 Nonsynonymous SNV K1136R 0.347 0.352 0.327 128 407 135 0.328 96 77 23 19 21 Benign 0.001 26939 chr17 6329030 6329030 C A rs62637015 AIPL1 Nonsynonymous SNV R239L 0.011 0.01 0.003 0 13 4 0 1 0 0 0 0 Benign/Likely benign 22.9 26940 chr19 47548678 47548678 G A rs889169 NPAS1 Synonymous SNV A514A 0.581 0.529 0.486 201 682 203 0.515 143 198 51 34 59 8.76 26941 chr6 158505088 158505088 A G rs1744173 SYNJ2 Synonymous SNV G793G 0.873 0.87 0.929 334 1025 334 0.856 273 443 144 126 141 0.254 26942 chr19 47549454 47549454 C T rs11083857 TMEM160 Nonsynonymous SNV G120S 0.227 0.169 0.207 72 267 65 0.185 61 28 8 7 7 7.943 26943 chr6 158509750 158509750 A G rs350289 SYNJ2 Synonymous SNV G897G 0.899 0.888 0.932 344 1055 341 0.882 274 471 151 127 150 4.974 26944 chr17 62079334 62079334 A G rs11079520 PRR29 Synonymous SNV X237X 0.396 0.375 0.327 158 465 144 0.405 96 101 22 16 34 2.344 26945 chr17 41244435 41244435 T C rs16941 BRCA1 Nonsynonymous SNV E991G 0.348 0.357 0.327 127 409 137 0.326 96 80 24 19 21 Benign 22.2 26946 chr6 158571501 158571501 G A rs6929274 SERAC1 Synonymous SNV D83D 0.739 0.779 0.69 296 868 299 0.759 203 320 114 78 114 Benign 0.276 26947 chr19 47585517 47585517 G C rs7250850 ZC3H4 Synonymous SNV L418L 0.705 0.667 0.633 255 828 256 0.654 186 292 83 63 84 11.24 26948 chr6 96999725 96999725 C T rs1127175 UFL1 Synonymous SNV D637D 0.358 0.365 0.374 121 420 140 0.31 110 80 25 29 19 12.18 26949 chr6 158735087 158735087 C T rs9364951 TULP4 Synonymous SNV S13S 0.847 0.854 0.895 338 994 328 0.867 263 418 142 118 147 9.566 26950 chr19 4772202 4772202 A C rs3760955 MIR7-3HG 0 0 0.316 0 0 0 0 93 0 0 19 0 6.072 26951 chr6 158735090 158735090 T C rs7756620 TULP4 Synonymous SNV D14D 0.848 0.854 0.895 338 995 328 0.867 263 418 142 118 147 0.002 26952 chr6 97058553 97058553 A G rs2273621 FHL5 Nonsynonymous SNV R204G 0.354 0.352 0.374 118 416 135 0.303 110 75 22 27 16 24 26953 chr17 41244936 41244936 G A rs799917 BRCA1 Nonsynonymous SNV P824L 0.359 0.352 0.354 135 422 135 0.346 104 84 23 20 22 Benign 14.03 26954 chr17 6337247 6337247 C G rs12449580 AIPL1 Nonsynonymous SNV D90H 0.253 0.266 0.299 94 297 102 0.241 88 42 11 11 12 Benign/Likely benign 25.4 26955 chr19 4772449 4772449 C T rs2885717 MIR7-3HG 0 0 0.333 0 0 0 0 98 0 0 27 0 7.071 26956 chr6 158870081 158870081 A G rs705956 TULP4 Synonymous SNV R199R 0.565 0.539 0.612 220 663 207 0.564 180 187 62 53 61 4.476 26957 chr19 47768128 47768128 G C rs2032811 CCDC9 Nonsynonymous SNV E215D 0.486 0.487 0.459 209 570 187 0.536 135 145 42 32 57 15.06 26958 chr6 158910698 158910698 G A rs12206717 TULP4 Nonsynonymous SNV S522N 0.06 0.06 0.058 28 70 23 0.072 17 1 0 0 0 21.2 26959 chr17 41245237 41245237 A G rs16940 BRCA1 Synonymous SNV L724L 0.34 0.349 0.327 127 399 134 0.326 96 76 22 19 21 Benign 5.478 26960 chr6 97063522 97063522 C G rs9373985 FHL5 Nonsynonymous SNV S243R 0.355 0.359 0.384 117 417 138 0.3 113 78 23 28 16 11.61 26961 chr17 63532604 63532604 G A rs142670753 AXIN2 Nonsynonymous SNV R594W 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 31 26962 chr19 47770015 47770015 A C rs10413121 CCDC9 Synonymous SNV R290R 0.491 0.49 0.456 211 577 188 0.541 134 147 42 28 57 6.434 26963 chr6 158923434 158923434 G C rs9364968 TULP4 Synonymous SNV T913T 0.794 0.789 0.854 306 932 303 0.785 251 363 118 106 119 5.56 26964 chr19 47774572 47774572 C T rs60930438 CCDC9 Synonymous SNV D411D 0.491 0.49 0.456 211 576 188 0.541 134 146 42 28 57 12.12 26965 chr17 41245466 41245466 G A rs1799949 BRCA1 Synonymous SNV S647S 0.346 0.352 0.327 130 406 135 0.333 96 77 23 19 23 Benign 8.874 26966 chr17 52981132 52981132 T C rs747060155 TOM1L1 Nonsynonymous SNV I41T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.9 26967 chr19 47774666 47774668 GAG - rs138370983 CCDC9 E445del 0.128 0.109 0.085 57 150 42 0.146 25 7 1 0 5 26968 chr6 97063555 97063555 A G rs9398148 FHL5 Synonymous SNV K254K 0.354 0.357 0.384 117 416 137 0.3 113 78 23 28 16 8.342 26969 chr6 158924088 158924088 T C rs914690 TULP4 Synonymous SNV D1131D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.028 26970 chr17 41245941 41245941 G C rs398122638 BRCA1 Nonsynonymous SNV T489S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 22.1 26971 chr19 47774772 47774772 T C rs888836 CCDC9 Nonsynonymous SNV L478P 0.491 0.49 0.429 211 577 188 0.541 126 146 42 27 57 6.946 26972 chr6 97613163 97613163 T C rs1209290 MMS22L Synonymous SNV P777P 0.531 0.565 0.483 224 623 217 0.574 142 165 62 40 60 0.014 26973 chr6 158927651 158927651 A G rs3828712 TULP4 Synonymous SNV L1519L 0.356 0.341 0.439 135 418 131 0.346 129 82 22 28 26 8.775 26974 chr17 41361960 41361960 A G rs8482 NBR1 Nonsynonymous SNV H923R 0.343 0.349 0.33 123 403 134 0.315 97 80 26 19 20 22.8 26975 chr6 97626374 97626374 A G rs1737145 MMS22L Nonsynonymous SNV V592A 0.449 0.482 0.422 183 527 185 0.469 124 146 51 32 45 14.32 26976 chr6 159184462 159184462 A G rs2291387 SYTL3 Synonymous SNV S342S 0.645 0.701 0.667 241 757 269 0.618 196 237 94 63 70 0.276 26977 chr19 47778221 47778221 A C rs10407367 INAFM1 Synonymous SNV G15G 0.487 0.487 0.463 211 572 187 0.541 136 147 42 32 57 3.405 26978 chr19 47823038 47823038 G A rs4467185 C5AR1 Nonsynonymous SNV D2N 0.969 0.974 0.939 377 1138 374 0.967 276 552 182 130 182 14.13 26979 chr6 159185563 159185563 T A rs3123101 SYTL3 Nonsynonymous SNV L381Q 0.576 0.659 0.609 207 676 253 0.531 179 188 84 54 52 2.257 26980 chr19 47823484 47823484 T C rs4804049 C5AR1 Synonymous SNV A150A 0.969 0.974 0.942 377 1138 374 0.967 277 552 182 131 182 0.73 26981 chr6 159652931 159652931 G C rs420137 FNDC1 Nonsynonymous SNV E463Q 0.878 0.87 0.935 338 1031 334 0.867 275 458 145 129 148 0.005 26982 chr19 47823871 47823871 G T rs11880097 C5AR1 Nonsynonymous SNV K279N 0.969 0.974 0.939 377 1138 374 0.967 276 552 182 130 182 0.022 26983 chr17 6381939 6381939 G A rs938288 PITPNM3 Synonymous SNV T199T 0.653 0.677 0.684 274 767 260 0.703 201 253 91 67 93 Benign 12.86 26984 chr6 159653544 159653544 G A rs139265083 FNDC1 Nonsynonymous SNV R667Q 0.077 0.086 0.051 27 90 33 0.069 15 5 1 1 0 12.09 26985 chr17 64023624 64023624 T C rs17704679 CEP112 Nonsynonymous SNV K509E 0.497 0.469 0.364 238 584 180 0.61 107 169 54 34 82 20.4 26986 chr17 63822357 63822357 T C rs62065084 CEP112 Nonsynonymous SNV I21V 0.21 0.245 0.15 69 247 94 0.177 44 22 14 5 6 3.88 26987 chr19 47878858 47878858 C T rs61751860 DHX34 Nonsynonymous SNV R734C 0.208 0.154 0.207 76 244 59 0.195 61 25 4 7 3 33 26988 chr17 5347576 5347576 G A rs2074438 DHX33 Synonymous SNV Y518Y 0.09 0.068 0.116 57 106 26 0.146 34 5 0 2 2 8.574 26989 chr17 64023642 64023642 A G rs11079628 CEP112 Synonymous SNV L503L 0.323 0.341 0.156 114 379 131 0.292 46 98 36 17 30 7.934 26990 chr6 159653635 159653635 C G rs381639 FNDC1 Synonymous SNV A697A 0.775 0.745 0.847 303 910 286 0.777 249 354 106 107 119 6.543 26991 chr17 64025331 64025331 A G rs11652766 CEP112 Synonymous SNV N429N 0.533 0.518 0.408 244 626 199 0.626 120 168 54 38 82 6.97 26992 chr19 47883086 47883086 T G rs28522883 DHX34 Synonymous SNV A942A 0.216 0.159 0.211 81 253 61 0.208 62 26 4 7 3 4.385 26993 chr17 64210757 64210757 C A rs4581 APOH Nonsynonymous SNV V266L 0.179 0.201 0.16 77 210 77 0.197 47 16 5 2 7 Benign 4.444 26994 chr19 47969394 47969394 G A rs12459087 SLC8A2 Synonymous SNV I89I 0.077 0.086 0.061 17 90 33 0.044 18 1 0 0 0 12.3 26995 chr17 6406883 6406883 C T rs3809835 PITPNM3 Nonsynonymous SNV A44T 0.426 0.391 0.432 169 500 150 0.433 127 107 26 26 31 Benign 8.227 26996 chr17 53900177 53900177 T C rs1454114 PCTP Nonsynonymous SNV L212S 0.2 0.195 0.211 66 235 75 0.169 62 20 8 5 5 0.003 26997 chr6 159654487 159654487 G T rs404435 FNDC1 Synonymous SNV P981P 0.877 0.867 0.935 339 1030 333 0.869 275 457 144 129 148 7.383 26998 chr19 4817288 4817288 - AGG rs11466722 TICAM1 P367_S368insP 0.136 0.089 0.133 70 160 34 0.179 39 15 2 3 9 26999 chr19 48182787 48182787 C T rs4802382 BICRA Synonymous SNV A120A 0.26 0.242 0.306 88 305 93 0.226 90 44 13 15 8 11.22 27000 chr6 99893938 99893938 T C rs4504482 USP45 Synonymous SNV G512G 0.364 0.352 0.327 132 427 135 0.338 96 91 23 16 22 0.018 27001 chr6 159654551 159654551 C G rs370434 FNDC1 Nonsynonymous SNV Q1003E 0.876 0.867 0.935 339 1029 333 0.869 275 456 144 129 148 0.007 27002 chr17 64210580 64210580 A C rs1801689 APOH Nonsynonymous SNV C325G 0.045 0.042 0.02 18 53 16 0.046 6 3 0 0 1 26.3 27003 chr19 48182946 48182946 T C rs2911006 BICRA Synonymous SNV P173P 0.71 0.68 0.745 280 833 261 0.718 219 300 93 83 101 0.008 27004 chr6 99936163 99936163 T C rs61733471 USP45 Synonymous SNV A209A 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 5.809 27005 chr19 48183114 48183114 A G rs2914438 BICRA Synonymous SNV T229T 0.714 0.685 0.738 281 838 263 0.721 217 300 95 83 101 0.002 27006 chr17 53828493 53828493 A C rs12941739 PCTP Nonsynonymous SNV E10A 0.085 0.07 0.139 38 100 27 0.097 41 8 0 4 5 12.37 27007 chr6 159654994 159654994 A C rs402388 FNDC1 Synonymous SNV V1150V 0.876 0.867 0.935 339 1028 333 0.869 275 457 144 129 148 0.041 27008 chr17 6441376 6441376 G A rs28493751 PITPNM3 Nonsynonymous SNV P17S 0.147 0.091 0.136 72 173 35 0.185 40 12 2 3 4 Benign 23.7 27009 chr6 99956560 99956560 T C rs7744845 USP45 Nonsynonymous SNV K67E 0.359 0.362 0.347 128 422 139 0.328 102 80 21 17 16 26.2 27010 chr19 48183771 48183771 C T rs1035938 BICRA Synonymous SNV S448S 0.28 0.26 0.313 95 329 100 0.244 92 46 14 16 8 12.74 27011 chr19 4818378 4818378 T C rs7255265 TICAM1 Synonymous SNV T4T 0.605 0.602 0.66 239 710 231 0.613 194 205 67 64 74 Benign 0.023 27012 chr6 159655084 159655084 C G rs420054 FNDC1 Nonsynonymous SNV D1180E 0.877 0.862 0.935 339 1030 331 0.869 275 457 142 129 148 14 27013 chr17 54588571 54588571 G A rs924630061 ANKFN1 Nonsynonymous SNV V1060M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.382 27014 chr17 64685078 64685078 G A rs2227857 PRKCA Synonymous SNV L277L 0.411 0.388 0.35 169 483 149 0.433 103 99 29 19 37 9.995 27015 chr19 48184474 48184474 C T rs3745762 BICRA Nonsynonymous SNV P683S 0.28 0.26 0.313 95 329 100 0.244 92 46 14 16 8 0.262 27016 chr6 159655102 159655102 A G rs436743 FNDC1 Synonymous SNV G1186G 0.877 0.867 0.935 339 1030 333 0.869 275 457 144 129 148 5.434 27017 chr19 48198675 48198675 A G rs13346368 BICRA Nonsynonymous SNV T1044A 0.185 0.18 0.173 68 217 69 0.174 51 43 11 13 9 0.371 27018 chr17 42155780 42155780 C T rs145326077 HDAC5 Synonymous SNV P1112P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.62 27019 chr6 159655326 159655326 T C rs3003174 FNDC1 Nonsynonymous SNV L1261P 0.876 0.867 0.935 339 1029 333 0.869 275 456 144 129 148 0.691 27020 chr19 48205288 48205288 G A rs8100472 BICRA Synonymous SNV A1433A 0.087 0.06 0.126 17 102 23 0.044 37 6 2 6 1 10.83 27021 chr6 159655383 159655383 A G rs2501176 FNDC1 Nonsynonymous SNV Q1280R 0.876 0.867 0.935 339 1029 333 0.869 275 456 144 129 148 0.002 27022 chr19 48229169 48229169 A G rs8111184 EHD2 Synonymous SNV S201S 0.206 0.229 0.204 72 242 88 0.185 60 30 7 4 4 6.307 27023 chr19 48244194 48244194 A G rs7255434 EHD2 Synonymous SNV L379L 0.698 0.729 0.643 285 820 280 0.731 189 277 101 60 106 1.526 27024 chr19 48244569 48244569 G A rs3745758 EHD2 Synonymous SNV E504E 0.52 0.536 0.476 223 610 206 0.572 140 163 55 32 61 10.31 27025 chr6 159655402 159655402 A G rs2932988 FNDC1 Synonymous SNV P1286P 0.876 0.867 0.935 339 1029 333 0.869 275 456 144 129 148 7.775 27026 chr19 48248834 48248834 T C rs10404034 NOP53 Synonymous SNV S6S 0.198 0.224 0.16 68 232 86 0.174 47 27 6 4 4 1.303 27027 chr19 48255804 48255804 A G rs1042558 NOP53 Synonymous SNV A235A 0.5 0.505 0.432 217 587 194 0.556 127 148 48 27 57 0.042 27028 chr6 159660780 159660797 CCACCACCCGCCGCACGA - rs141435210 FNDC1 T1479_T1484del 0.876 0.867 0.935 339 1029 333 0.869 275 456 144 129 148 27029 chr19 48258717 48258717 A G rs1804994 NOP53 Nonsynonymous SNV Q389R 0.421 0.451 0.517 202 494 173 0.518 152 218 76 58 89 3.602 27030 chr6 106553383 106553383 C T rs141465160 PRDM1 Nonsynonymous SNV L316F 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 not provided 9.894 27031 chr6 159660879 159660879 C A rs386360 FNDC1 Nonsynonymous SNV T1504K 0.877 0.867 0.935 339 1030 333 0.869 275 457 144 129 148 9.601 27032 chr17 56435080 56435080 G C rs9652855 RNF43 Nonsynonymous SNV P559R 0.158 0.172 0.136 52 185 66 0.133 40 17 9 1 3 13.22 27033 chr19 48258772 48258772 G A rs11083895 NOP53 Synonymous SNV G407G 0.264 0.281 0.33 131 310 108 0.336 97 140 50 42 62 13.13 27034 chr6 159672455 159672455 C T rs294899 FNDC1 Synonymous SNV D1652D 0.725 0.701 0.724 271 851 269 0.695 213 306 95 79 93 12.3 27035 chr19 48260295 48260295 - A rs142144226 NOP53-AS1 0.128 0.115 0.122 46 150 44 0.118 36 11 0 0 0 27036 chr17 65105363 65105363 T G rs200486206 HELZ Nonsynonymous SNV Q1454P 0.019 0.01 0.003 2 22 4 0.005 1 0 0 0 0 12.75 27037 chr19 48389425 48389425 A G rs11083907 SULT2A1 Synonymous SNV F30F 0.999 1 0.986 389 1173 384 0.997 290 586 192 143 194 0.003 27038 chr6 160113872 160113872 A G rs4880 SOD2 Nonsynonymous SNV V16A 0.465 0.5 0.442 166 546 192 0.426 130 132 49 21 35 drug response 1.894 27039 chr19 4847713 4847713 A G rs9973235 PLIN3 Nonsynonymous SNV V275A 0.912 0.906 0.901 347 1071 348 0.89 265 487 159 119 154 11.02 27040 chr17 4535035 4535035 G A rs41432647 ALOX15 Nonsynonymous SNV P617S 0.01 0.013 0.01 3 12 5 0.008 3 0 0 0 0 11.71 27041 chr19 4847868 4847868 G A rs10406652 PLIN3 Synonymous SNV V223V 0.166 0.195 0.129 60 195 75 0.154 38 18 11 5 5 8.104 27042 chr17 65052304 65052304 G A rs1799938 CACNG1 Nonsynonymous SNV G196S 0.113 0.143 0.102 44 133 55 0.113 30 6 5 1 3 24.6 27043 chr6 160176531 160176531 A G rs146208471 WTAP Nonsynonymous SNV H360R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 12.59 27044 chr19 4847874 4847874 A G rs9304915 PLIN3 Synonymous SNV F221F 0.905 0.904 0.891 347 1063 347 0.89 262 479 158 116 154 0.08 27045 chr17 55079471 55079471 T C rs12940187 SCPEP1 Synonymous SNV L409L 0.178 0.18 0.153 61 209 69 0.156 45 25 5 3 6 0.057 27046 chr19 4852106 4852106 A G rs2271058 PLIN3 Synonymous SNV L186L 0.914 0.914 0.898 347 1073 351 0.89 264 488 161 118 154 6.204 27047 chr6 160196343 160196343 A G rs25683 ACAT2 Nonsynonymous SNV K240R 0.542 0.542 0.544 199 636 208 0.51 160 172 54 38 47 22.8 27048 chr19 4852137 4852137 C T rs1055919 PLIN3 Synonymous SNV S175S 0.49 0.466 0.517 191 575 179 0.49 152 145 46 41 41 10.7 27049 chr19 48537585 48537585 A G rs3745746 CABP5 Nonsynonymous SNV V128A 0.385 0.396 0.384 162 452 152 0.415 113 81 26 21 31 0.006 27050 chr6 160206631 160206631 T C rs3818299 SNORA29 0.507 0.503 0.544 186 595 193 0.477 160 171 54 38 47 3.608 27051 chr17 42333071 42333071 C T rs35807245 SLC4A1 Synonymous SNV K590K 0.025 0.029 0.027 16 29 11 0.041 8 0 0 0 0 Benign/Likely benign 16.41 27052 chr17 45425287 45425287 C T rs71377306 EFCAB13 Stop gain R211X 0.035 0.036 0.041 17 41 14 0.044 12 2 1 0 0 36 27053 chr19 48543862 48543862 G A rs8105198 CABP5 Synonymous SNV L80L 0.813 0.807 0.837 312 954 310 0.8 246 394 124 103 127 14.78 27054 chr6 160211636 160211636 G A rs1128670 MRPL18 Nonsynonymous SNV R6Q 0.716 0.74 0.738 268 840 284 0.687 217 299 105 78 90 18.13 27055 chr19 48543923 48543923 C A rs12982629 CABP5 Synonymous SNV T59T 0.266 0.266 0.289 113 312 102 0.29 85 40 10 14 16 20.5 27056 chr19 48565468 48565468 G T rs4802425 PLA2G4C-AS1 0.723 0.75 0.782 277 849 288 0.71 230 354 116 88 108 1.268 27057 chr6 160211646 160211648 GTT - rs58504486 MRPL18 L10del 0.716 0.74 0.738 268 841 284 0.687 217 299 105 78 90 27058 chr19 48598823 48598823 A G rs156631 PLA2G4C Nonsynonymous SNV S213P 0.412 0.37 0.425 144 484 142 0.369 125 101 25 26 30 5.619 27059 chr6 160225012 160225012 T G rs35435543 PNLDC1 Synonymous SNV S88S 0.503 0.51 0.5 190 591 196 0.487 147 147 47 33 42 3.6 27060 chr19 48601454 48601454 T C rs251684 PLA2G4C Synonymous SNV P180P 0.628 0.607 0.633 219 737 233 0.562 186 233 74 56 65 5.859 27061 chr6 160328620 160328620 C T rs220721 MAS1 Synonymous SNV V211V 0.197 0.201 0.194 95 231 77 0.244 57 15 9 5 6 6.797 27062 chr19 48602948 48602948 T C rs2303744 PLA2G4C Nonsynonymous SNV I153V 0.249 0.245 0.265 87 292 94 0.223 78 37 10 14 14 0.003 27063 chr6 108882570 108882570 C T rs11757217 FOXO3 Synonymous SNV A53A 0.201 0.188 0.187 89 236 72 0.228 55 29 7 6 8 11.01 27064 chr6 160448324 160448324 C G rs8191754 IGF2R Nonsynonymous SNV L252V 0.147 0.193 0.153 55 173 74 0.141 45 15 7 2 5 25.7 27065 chr19 48621036 48621036 C G rs13436 LIG1 Synonymous SNV A746A 0.439 0.451 0.456 167 515 173 0.428 134 103 40 28 40 Benign 10.3 27066 chr6 160453978 160453978 A G rs1570070 IGF2R Synonymous SNV S350S 0.321 0.375 0.272 139 377 144 0.356 80 61 27 16 26 1.24 27067 chr19 48654553 48654553 G T rs20580 LIG1 Synonymous SNV A139A 0.431 0.435 0.48 156 506 167 0.4 141 111 35 33 33 Benign 3.681 27068 chr17 65212042 65212042 C T rs8080100 HELZ Nonsynonymous SNV V74M 0.169 0.211 0.088 82 198 81 0.21 26 24 8 4 10 24.5 27069 chr17 56386607 56386607 - TCCTCCTCT rs200436316 TSPOAP1 E1281_D1282insEEE 0.061 0.06 0.058 17 72 23 0.044 17 5 1 0 0 27070 chr6 160464289 160464289 G A rs894817 IGF2R Synonymous SNV G530G 0.32 0.349 0.306 131 376 134 0.336 90 55 23 15 23 6.052 27071 chr19 48737706 48737706 A T rs2043211 CARD8 Stop gain C10X 0.341 0.354 0.361 144 400 136 0.369 106 80 22 18 28 4.609 27072 chr17 56598991 56598991 T A rs17741424 SEPTIN4 Nonsynonymous SNV E212V 0.167 0.172 0.146 55 196 66 0.141 43 16 7 1 4 23.3 27073 chr17 56382512 56382512 C T rs11867412 TSPOAP1 Synonymous SNV R1758R 0.192 0.146 0.129 68 225 56 0.174 38 18 3 2 9 18.29 27074 chr17 65732093 65732093 A G rs3760227 NOL11 Synonymous SNV S154S 0.173 0.154 0.156 53 203 59 0.136 46 23 2 5 1 11.73 27075 chr6 160468278 160468278 A G rs998075 IGF2R Synonymous SNV T713T 0.538 0.534 0.551 204 632 205 0.523 162 169 60 48 54 0.058 27076 chr17 56383744 56383744 T C rs11079346 TSPOAP1 Nonsynonymous SNV H1668R 0.282 0.229 0.228 102 331 88 0.262 67 38 7 5 16 0.001 27077 chr17 65739627 65739627 A G rs10127 NOL11 Synonymous SNV A474A 0.53 0.583 0.105 222 622 224 0.569 31 179 63 14 66 9.314 27078 chr19 48800338 48800338 A G rs7252988 CCDC114 Synonymous SNV S636S 0.636 0.622 0.684 223 747 239 0.572 201 243 69 66 62 Benign 0.003 27079 chr6 160494409 160494409 A G rs629849 IGF2R Nonsynonymous SNV R1619G 0.941 0.927 0.925 373 1105 356 0.956 272 521 164 125 178 0.76 27080 chr17 6597480 6597480 G A rs55698160 SLC13A5 Synonymous SNV A321A 0.06 0.049 0.027 23 70 19 0.059 8 2 0 0 1 Benign 12.27 27081 chr19 48800914 48800914 G A rs35461177 CCDC114 Nonsynonymous SNV P468L 0.238 0.169 0.255 71 279 65 0.182 75 38 5 10 9 Benign 27.1 27082 chr17 56386118 56386118 A G rs2680689 TSPOAP1 Synonymous SNV D1445D 0.295 0.247 0.238 103 346 95 0.264 70 43 9 10 17 1.193 27083 chr17 6599095 6599095 G A rs56224509 SLC13A5 Synonymous SNV P292P 0.052 0.042 0.024 19 61 16 0.049 7 0 0 0 0 Benign 12 27084 chr6 160505199 160505199 C G rs614754 IGF2R Synonymous SNV L2017L 0.997 1 0.993 389 1171 384 0.997 292 584 192 145 194 13.65 27085 chr17 56386358 56386358 T A rs2526360 TSPOAP1 Synonymous SNV R1365R 0.296 0.247 0.265 104 348 95 0.267 78 43 9 10 17 6.106 27086 chr19 48806977 48806977 G A rs2242463 CCDC114 Synonymous SNV D269D 0.158 0.193 0.18 54 185 74 0.138 53 11 3 0 6 Benign 6.189 27087 chr6 160551204 160551204 G C rs683369 SLC22A1 Nonsynonymous SNV L160F 0.867 0.859 0.861 337 1018 330 0.864 253 440 138 111 145 0.005 27088 chr19 48807367 48807367 C A rs28582401 CCDC114 Synonymous SNV L195L 0.158 0.193 0.17 53 185 74 0.136 50 11 3 0 6 Benign 14.44 27089 chr17 56388238 56388238 C G rs2680704 TSPOAP1 Nonsynonymous SNV A1080P 0.286 0.229 0.252 103 336 88 0.264 74 44 9 10 18 0.201 27090 chr19 48863386 48863386 C T rs438767 TMEM143 Synonymous SNV S104S 0.557 0.539 0.52 213 654 207 0.546 153 183 53 39 62 16.68 27091 chr19 48945880 48945880 T C rs62130268 GRIN2D Synonymous SNV A899A 0.833 0.823 0.748 348 978 316 0.892 220 442 146 100 161 0.496 27092 chr6 160560845 160560845 A G rs628031 SLC22A1 Nonsynonymous SNV M408V 0.693 0.672 0.66 255 814 258 0.654 194 278 82 68 80 0.001 27093 chr17 66511627 66511627 G A rs3730349 PRKAR1A Synonymous SNV A29A 0.018 0.018 0.014 2 21 7 0.005 4 0 0 0 0 Benign/Likely benign 15.49 27094 chr19 48949286 48949286 G T rs1643487 GRWD1 Synonymous SNV R8R 0.866 0.87 0.85 354 1017 334 0.908 250 439 147 111 161 9.499 27095 chr19 4902754 4902754 G A rs2779168 ARRDC5 Synonymous SNV I28I 0.364 0.357 0.323 129 427 137 0.331 95 79 23 14 16 7.118 27096 chr17 56638892 56638892 C T rs776563214 TEX14 Synonymous SNV K1382K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 27097 chr19 49102399 49102399 C T rs1132054 SULT2B1 Synonymous SNV C263C 0.595 0.565 0.575 243 699 217 0.623 169 211 53 53 73 9.907 27098 chr6 160560898 160560905 TGGTAAGT - rs113569197 SLC22A1 D426Pfs*29 0.681 0.661 0.633 247 799 254 0.633 186 277 82 68 78 27099 chr17 39925711 39925711 C T rs375788626 JUP Nonsynonymous SNV A143T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Uncertain significance 34 27100 chr6 109702776 109702776 G A rs73762715 CD164 Stop gain R2X 0.009 0.013 0.01 5 11 5 0.013 3 0 0 0 0 6.386 27101 chr19 49116555 49116555 A G rs368654 FAM83E Synonymous SNV F25F 0.712 0.706 0.701 265 836 271 0.679 206 303 99 74 94 0.006 27102 chr6 160645832 160645832 C T rs316003 SLC22A2 Synonymous SNV V502V 0.841 0.81 0.772 323 987 311 0.828 227 411 125 90 133 8.101 27103 chr19 49164952 49164952 A G rs281392 NTN5 Synonymous SNV S484S 0.635 0.677 0.677 272 745 260 0.697 199 240 89 69 96 0.721 27104 chr6 160670282 160670282 A C rs316019 SLC22A2 Nonsynonymous SNV S270A 0.907 0.888 0.837 351 1065 341 0.9 246 481 153 104 157 12.67 27105 chr19 49183705 49183705 G A rs3826846 SEC1P 0.661 0.688 0.711 272 776 264 0.697 209 249 89 75 96 8.555 27106 chr17 6683684 6683684 A G rs16956264 FBXO39 Nonsynonymous SNV Y166C 0.105 0.073 0.065 30 123 28 0.077 19 6 1 0 0 1.093 27107 chr19 49206108 49206108 C G rs679574 LOC105447645 0 0 0.425 0 0 0 0 125 0 0 32 0 0.958 27108 chr19 49206145 49206145 G C rs516316 LOC105447645 0.445 0.482 0.476 193 523 185 0.495 140 100 44 33 44 0.775 27109 chr6 160679400 160679400 C A rs624249 SLC22A2 Synonymous SNV T130T 0.428 0.43 0.422 171 503 165 0.438 124 104 35 24 36 19.11 27110 chr19 49206172 49206172 C T rs516246 LOC105447645 0.448 0.487 0.49 194 526 187 0.497 144 100 45 33 44 3.076 27111 chr17 66871837 66871837 C T rs35403175 ABCA8 Nonsynonymous SNV G1430S 0.036 0.021 0.017 10 42 8 0.026 5 2 0 1 0 25.9 27112 chr19 49206417 49206417 A G rs492602 FUT2 Synonymous SNV A68A 0.448 0.484 0.483 194 526 186 0.497 142 99 44 32 44 0.055 27113 chr6 160769811 160769811 C T rs668871 SLC22A3 Synonymous SNV R120R 0.537 0.536 0.48 189 631 206 0.485 141 174 57 38 35 9.642 27114 chr19 49206462 49206462 C T rs681343 FUT2 Synonymous SNV Y83Y 0.449 0.487 0.497 194 527 187 0.497 146 100 45 33 44 3.159 27115 chr6 160952838 160952838 G A rs3124784 LPA Nonsynonymous SNV R2016C 0.239 0.234 0.235 111 280 90 0.285 69 34 11 9 14 26.3 27116 chr19 49206603 49206603 C T rs281377 FUT2 Synonymous SNV N130N 0.494 0.474 0.446 174 580 182 0.446 131 134 41 25 35 15.71 27117 chr17 6690164 6690164 A G rs7213731 FBXO39 Nonsynonymous SNV I363M 0.184 0.128 0.129 57 216 49 0.146 38 19 3 1 4 7.01 27118 chr19 49206674 49206674 G A rs601338 FUT2 Stop gain W154X 0.449 0.487 0.497 194 527 187 0.497 146 100 45 33 44 Benign, association 37 27119 chr6 160969629 160969629 A G rs1801693 LPA Nonsynonymous SNV M1679T 0.638 0.63 0.646 245 749 242 0.628 190 246 77 60 72 0.001 27120 chr19 49206726 49206726 C T rs1800027 FUT2 Synonymous SNV H171H 0.111 0.112 0.095 47 130 43 0.121 28 6 0 0 4 11.31 27121 chr17 46628553 46628553 - G rs541645201 HOXB-AS1 0.058 0.06 0.01 19 68 23 0.049 3 1 1 0 0 27122 chr19 49206985 49206985 G A rs602662 FUT2 Nonsynonymous SNV G258S 0.473 0.529 0.527 202 555 203 0.518 155 115 56 37 49 23.6 27123 chr17 66924083 66924083 G A rs35621847 ABCA8 Nonsynonymous SNV A416V 0.102 0.107 0.078 53 120 41 0.136 23 6 3 1 6 11.45 27124 chr6 109787447 109787447 G A rs2232449 ZBTB24 Synonymous SNV P567P 0.009 0.013 0.007 5 10 5 0.013 2 0 0 0 0 Benign 8.976 27125 chr6 161137779 161137779 T C rs14224 PLG Synonymous SNV C257C 0.468 0.445 0.415 175 549 171 0.449 122 126 34 26 46 0.008 27126 chr6 109787596 109787596 C T rs2232448 ZBTB24 Nonsynonymous SNV A518T 0.009 0.013 0.01 5 11 5 0.013 3 0 0 0 0 Benign 2.72 27127 chr6 161139480 161139480 C T rs1130656 PLG Synonymous SNV F314F 0.417 0.398 0.364 160 489 153 0.41 107 102 25 20 37 10.17 27128 chr19 49207206 49207206 A G rs485186 FUT2 Synonymous SNV T331T 0.475 0.531 0.531 206 558 204 0.528 156 116 57 38 51 0.003 27129 chr17 56620927 56620927 G A rs201565797 SEPTIN4 Synonymous SNV I207I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.65 27130 chr6 161173946 161173946 T G rs11060 PLG Synonymous SNV G762G 0.495 0.529 0.527 192 581 203 0.492 155 143 52 42 42 3.32 27131 chr19 49217261 49217261 A G rs281385 MAMSTR Synonymous SNV R87R 0.844 0.839 0.83 325 991 322 0.833 244 428 141 102 139 1.629 27132 chr19 49218111 49218111 G T rs33988101 MAMSTR Synonymous SNV P57P 0.485 0.526 0.524 216 569 202 0.554 154 126 54 40 56 8.143 27133 chr6 161413044 161413044 - CCG rs569609736 MAP3K4 P36_E37insP 0.037 0.036 0.044 15 44 14 0.038 13 3 3 1 2 27134 chr19 49218602 49218602 C T rs12979278 MAMSTR Synonymous SNV A11A 0.483 0.531 0.514 216 567 204 0.554 151 126 55 39 57 10.23 27135 chr6 161469774 161469774 G A rs4559074 MAP3K4 Nonsynonymous SNV R157H 0.977 0.987 0.986 366 1147 379 0.938 290 561 187 143 171 14.51 27136 chr19 49244219 49244219 C A rs2307018 IZUMO1 Synonymous SNV A220A 0.487 0.484 0.412 171 572 186 0.438 121 134 46 26 34 13.37 27137 chr19 49244220 49244220 G A rs2307019 IZUMO1 Nonsynonymous SNV A220V 0.487 0.484 0.412 171 572 186 0.438 121 134 46 26 34 5.266 27138 chr6 161519351 161519353 CTG - rs113801384 MAP3K4 A1195del 0.931 0.938 0.888 347 1093 360 0.89 261 529 174 126 159 27139 chr17 67081830 67081830 T C rs2302134 ABCA6 Nonsynonymous SNV N1322S 0.682 0.682 0.684 281 801 262 0.721 201 277 94 65 101 12.68 27140 chr19 49247786 49247786 G A rs8108468 IZUMO1 Synonymous SNV F107F 0.49 0.482 0.415 173 575 185 0.444 122 135 46 27 35 9.375 27141 chr6 165713961 165713961 A C rs510579 C6orf118 Nonsynonymous SNV I256M 0.339 0.333 0.384 121 398 128 0.31 113 71 15 24 17 0.001 27142 chr6 110107517 110107517 T C rs9885672 FIG4 Nonsynonymous SNV V654A 0.177 0.18 0.18 78 208 69 0.2 53 18 5 8 10 Benign 3.349 27143 chr19 49259529 49259529 A G rs838133 FGF21 Synonymous SNV G12G 0.569 0.555 0.548 196 668 213 0.503 161 180 63 44 44 3.565 27144 chr19 49261368 49261368 T C rs739320 FGF21 Nonsynonymous SNV L174P 0.633 0.628 0.65 230 743 241 0.59 191 223 75 65 63 0.3 27145 chr6 166571935 166571935 C T rs35819705 TBXT Synonymous SNV A334A 0.306 0.315 0.269 127 359 121 0.326 79 53 22 12 22 10.49 27146 chr6 166579270 166579270 C T rs2305089 TBXT Nonsynonymous SNV G177D 0.503 0.497 0.449 210 590 191 0.538 132 146 48 30 55 21.5 27147 chr19 49303070 49303070 G C rs11548193 BCAT2 Nonsynonymous SNV T94R 0.217 0.245 0.18 101 255 94 0.259 53 25 7 3 14 4.255 27148 chr17 67125840 67125840 C T rs4968839 ABCA6 Nonsynonymous SNV V282I 0.744 0.737 0.69 299 874 283 0.767 203 326 105 77 113 5.581 27149 chr17 6704121 6704121 C T rs2271233 TEKT1 Nonsynonymous SNV V332I 0.089 0.125 0.109 36 104 48 0.092 32 8 5 3 1 4.771 27150 chr19 49334991 49334991 C T rs62127966 HSD17B14 Synonymous SNV E101E 0.212 0.221 0.095 91 249 85 0.233 28 21 7 4 10 9.583 27151 chr17 67178316 67178316 A G rs4968849 ABCA10 Nonsynonymous SNV M916T 0.755 0.742 0.653 303 886 285 0.777 192 360 112 80 123 0.001 27152 chr6 166720806 166720806 G C rs911203 PRR18 Synonymous SNV S275S 0.744 0.773 0.731 301 874 297 0.772 215 330 116 79 113 14.26 27153 chr19 49339098 49339098 T C rs8110220 HSD17B14 Nonsynonymous SNV N31D 0.27 0.313 0.269 114 317 120 0.292 79 47 20 9 16 0.006 27154 chr6 166721211 166721211 G T rs13204594 PRR18 Synonymous SNV T140T 0.726 0.75 0.68 293 852 288 0.751 200 326 115 75 109 11.82 27155 chr17 67210992 67210992 T C rs11657804 ABCA10 Nonsynonymous SNV I287V 0.366 0.359 0.35 153 430 138 0.392 103 112 39 33 37 0.001 27156 chr6 110726101 110726101 C T rs141098854 DDO Nonsynonymous SNV V112M 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 25.7 27157 chr6 166721224 166721224 C G rs7757150 PRR18 Nonsynonymous SNV C136S 0.733 0.755 0.663 295 860 290 0.756 195 328 115 74 110 3.628 27158 chr19 49368843 49368843 T C rs506425 PLEKHA4 Nonsynonymous SNV I37V 0.339 0.318 0.323 140 398 122 0.359 95 62 22 19 21 4.988 27159 chr17 45000565 45000565 C A rs12944167 GOSR2 Nonsynonymous SNV P3T 0.017 0.042 0 4 20 16 0.01 0 0 1 0 0 Benign/Likely benign 2.986 27160 chr6 110763875 110763875 A G rs723685 SLC22A16 Nonsynonymous SNV V252A 0.089 0.128 0.116 24 105 49 0.062 34 6 3 1 2 14.75 27161 chr19 49377319 49377319 A G rs610308 PPP1R15A Nonsynonymous SNV K277E 0.395 0.365 0.361 167 464 140 0.428 106 84 26 21 34 0.001 27162 chr6 166736362 166736362 C T rs7088 SFT2D1 Synonymous SNV S141S 0.385 0.367 0.439 155 452 141 0.397 129 90 28 33 24 18.49 27163 chr17 67121110 67121110 T C rs145696780 ABCA6 Nonsynonymous SNV M396V 0.011 0.003 0 5 13 1 0.013 0 0 0 0 0 0.045 27164 chr6 166756130 166756130 G C rs2294335 LOC100289495 0.283 0.297 0.241 109 332 114 0.279 71 77 28 14 13 4.248 27165 chr19 49377424 49377424 G A rs11541192 PPP1R15A Nonsynonymous SNV G312S 0.222 0.221 0.167 96 261 85 0.246 49 26 12 4 11 12.23 27166 chr17 58128308 58128308 C G rs750330410 HEATR6 Nonsynonymous SNV G774R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.7 27167 chr6 110777962 110777962 A G rs6907567 SLC22A16 Synonymous SNV N104N 0.233 0.258 0.265 85 273 99 0.218 78 31 15 8 11 0.032 27168 chr6 166826255 166826255 G A rs909631 RPS6KA2 Synonymous SNV L635L 0.733 0.708 0.731 297 861 272 0.762 215 315 94 82 118 3.017 27169 chr17 67215712 67215712 C T rs12941264 ABCA10 Synonymous SNV V168V 0.725 0.716 0.554 290 851 275 0.744 163 314 99 64 109 2.867 27170 chr6 110778128 110778128 T C rs714368 SLC22A16 Nonsynonymous SNV H49R 0.233 0.258 0.265 84 273 99 0.215 78 31 15 8 11 0.001 27171 chr19 49377436 49377436 G C rs556052 PPP1R15A Nonsynonymous SNV A316P 0.382 0.357 0.344 166 449 137 0.426 101 79 25 19 34 0.083 27172 chr6 166826304 166826304 T C rs760670 RPS6KA2 Synonymous SNV S618S 0.755 0.727 0.755 304 886 279 0.779 222 337 100 86 121 8.362 27173 chr17 58134442 58134442 G A rs72840344 HEATR6 Synonymous SNV Y682Y 0.012 0.005 0.003 0 14 2 0 1 0 0 0 0 8.39 27174 chr6 166831779 166831779 C T rs771214774 RPS6KA2 Synonymous SNV A526A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.27 27175 chr17 60040329 60040329 C T rs2278812 MED13 Synonymous SNV T1616T 0.13 0.122 0.143 45 153 47 0.115 42 11 3 5 3 14.98 27176 chr17 45234449 45234449 G A rs112216339 CDC27 Synonymous SNV Y121Y 0.085 0.083 0 18 100 32 0.046 0 0 0 0 0 4.833 27177 chr19 49377873 49377873 G A rs35023389 PPP1R15A Synonymous SNV L461L 0.167 0.19 0.129 74 196 73 0.19 38 15 7 2 9 1.098 27178 chr6 166862233 166862233 T C rs2230730 RPS6KA2 Synonymous SNV T339T 0.325 0.328 0.344 137 381 126 0.351 101 58 22 19 27 0.003 27179 chr6 111583530 111583530 G C rs147451538 MFSD4B Nonsynonymous SNV S33T 0.026 0.023 0.027 13 31 9 0.033 8 0 0 0 0 12.56 27180 chr19 49377918 49377918 G T rs35087747 PPP1R15A Nonsynonymous SNV R476S 0.167 0.19 0.129 74 196 73 0.19 38 15 7 2 9 0.001 27181 chr6 166952264 166952264 G A rs1003857 RPS6KA2 Synonymous SNV G36G 0.802 0.81 0.827 295 942 311 0.756 243 369 130 104 115 9.422 27182 chr17 67513003 67513003 C A rs1133228 MAP2K6 Synonymous SNV R31R 0.468 0.469 0.422 180 550 180 0.462 124 138 38 24 45 19.7 27183 chr19 49378994 49378994 A G rs500079 PPP1R15A Nonsynonymous SNV T597A 0.29 0.286 0.276 122 340 110 0.313 81 44 14 13 19 0.005 27184 chr17 45351803 45351803 C T rs544276300 ITGB3 Nonsynonymous SNV T33M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.2 27185 chr17 58824617 58824617 G A rs34431714 BCAS3 Nonsynonymous SNV R127K 0.043 0.036 0.037 16 51 14 0.041 11 1 0 0 0 25.4 27186 chr6 167040463 167040463 A G rs10946179 RPS6KA2 Synonymous SNV S15S 0.171 0.182 0.143 63 201 70 0.162 42 22 4 1 7 15.44 27187 chr6 111628597 111628597 C G rs3204954 REV3L Synonymous SNV R3073R 0.152 0.172 0.19 76 178 66 0.195 56 14 3 6 8 11.46 27188 chr6 167271711 167271711 T C rs943687 RPS6KA2 Nonsynonymous SNV T34A 0.979 0.977 0.966 377 1149 375 0.967 284 562 183 137 183 0.001 27189 chr19 49379167 49379167 C T rs524 PPP1R15A Synonymous SNV A654A 0.289 0.286 0.282 121 339 110 0.31 83 44 14 13 18 10.46 27190 chr6 111628626 111628626 C T rs3204953 REV3L Nonsynonymous SNV V3064I 0.152 0.172 0.19 76 178 66 0.195 56 14 3 6 8 32 27191 chr19 49379182 49379182 G C rs527 PPP1R15A Synonymous SNV S659S 0.289 0.286 0.282 121 339 110 0.31 83 44 14 13 18 5.345 27192 chr19 49407660 49407660 G A rs1058483 NUCB1 Synonymous SNV T64T 0.147 0.172 0.129 63 172 66 0.162 38 11 6 1 5 9.863 27193 chr6 167271716 167271716 T C rs9347162 RPS6KA2 Nonsynonymous SNV E32G 0.705 0.745 0.687 262 828 286 0.672 202 300 112 68 87 8.191 27194 chr6 111688927 111688927 G A rs3218587 REV3L Synonymous SNV L2022L 0.041 0.049 0.051 20 48 19 0.051 15 2 0 1 1 8.251 27195 chr19 49421966 49421966 T C rs2287836 NUCB1-AS1 0.717 0.688 0.741 280 842 264 0.718 218 306 89 83 102 7.368 27196 chr6 167343141 167343141 G A rs11159 RNASET2 Nonsynonymous SNV R236W 0.085 0.068 0.068 35 100 26 0.09 20 2 1 0 2 Benign/Likely benign 24.3 27197 chr19 49469087 49469087 T C rs2230267 FTL Synonymous SNV L55L 0.578 0.609 0.554 210 679 234 0.538 163 202 68 46 61 Benign 11.33 27198 chr17 67260926 67260926 A G rs12449649 ABCA5 Synonymous SNV L1089L 0.522 0.547 0.537 222 613 210 0.569 158 170 56 50 64 8.025 27199 chr17 45468858 45468858 T G rs118004742 EFCAB13 Stop gain Y450X 0.075 0.089 0.102 37 88 34 0.095 30 1 2 1 2 35 27200 chr19 49485548 49485548 G A rs5464 GYS1 Synonymous SNV F278F 0.302 0.354 0.327 100 354 136 0.256 96 57 22 17 15 Benign 13.84 27201 chr6 167344583 167344583 A G rs13213697 RNASET2 Synonymous SNV L172L 0.204 0.18 0.221 76 240 69 0.195 65 21 4 5 9 Benign 0.434 27202 chr19 49513273 49513273 C T rs1062708 RUVBL2 Synonymous SNV L171L 0.542 0.557 0.558 224 636 214 0.574 164 172 64 51 64 13.95 27203 chr17 45786166 45786166 C T rs185938851 TBKBP1 Nonsynonymous SNV A356V 0.011 0.018 0 6 13 7 0.015 0 1 1 0 2 22.3 27204 chr17 41151992 41151992 C G rs368450548 RPL27 Nonsynonymous SNV L42V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.34 27205 chr19 49621964 49621964 T C rs2232003 C19orf73 Nonsynonymous SNV S106G 0.837 0.846 0.85 339 983 325 0.869 250 408 138 104 149 1.988 27206 chr6 167571048 167571048 T C rs6902566 GPR31 Nonsynonymous SNV H91R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.034 27207 chr6 111696129 111696129 T A rs3218591 REV3L Synonymous SNV A1143A 0.153 0.182 0.201 71 180 70 0.182 59 16 6 7 7 1.326 27208 chr17 6946357 6946357 C A rs75636181 SLC16A11 Nonsynonymous SNV A80S 0.042 0.036 0.027 10 49 14 0.026 8 1 0 0 0 11.61 27209 chr19 49640002 49640002 G T rs2303053 PPFIA3 Nonsynonymous SNV A563S 0.457 0.5 0.429 174 537 192 0.446 126 134 52 33 45 15.43 27210 chr6 167728774 167728774 T C rs663606 UNC93A Nonsynonymous SNV M361T 0.681 0.685 0.646 255 799 263 0.654 190 274 91 61 80 Benign 0.003 27211 chr17 70118935 70118935 C T rs2229989 SOX9 Synonymous SNV H169H 0.252 0.242 0.18 87 296 93 0.223 53 40 10 4 8 Benign 14.07 27212 chr19 49839015 49839015 T C rs354021 CD37 Synonymous SNV I38I 0.803 0.792 0.827 324 943 304 0.831 243 384 121 102 134 8.061 27213 chr6 167753691 167753691 C T rs877653 TTLL2 Synonymous SNV S101S 0.278 0.289 0.269 111 326 111 0.285 79 39 14 8 16 11.79 27214 chr19 498524 498524 A G rs2302217 MADCAM1 Synonymous SNV P122P 0.464 0.424 0.432 165 545 163 0.423 127 152 47 24 42 0.135 27215 chr17 41598230 41598230 G A rs35620635 DHX8 Nonsynonymous SNV V926I 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 23 27216 chr17 7012077 7012077 C T rs2304979 ASGR2 Synonymous SNV G66G 0.238 0.208 0.194 87 279 80 0.223 57 36 13 8 9 10.04 27217 chr17 47246163 47246163 T C rs7224888 B4GALNT2 Nonsynonymous SNV C406R 0.089 0.096 0.068 39 104 37 0.1 20 5 0 0 3 25.3 27218 chr6 167754661 167754661 A G rs909545 TTLL2 Nonsynonymous SNV R425G 0.796 0.776 0.789 313 934 298 0.803 232 370 114 94 127 8.741 27219 chr19 49867913 49867913 G A rs919364 DKKL1 Nonsynonymous SNV A29T 0.293 0.31 0.255 112 344 119 0.287 75 48 18 11 10 8.042 27220 chr17 45914244 45914244 G A rs146740911 LRRC46 Nonsynonymous SNV V242M 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 9.885 27221 chr17 7012079 7012079 C T rs2304978 ASGR2 Nonsynonymous SNV G66R 0.238 0.208 0.194 87 279 80 0.223 57 36 13 8 9 10.64 27222 chr17 41879074 41879074 T C rs17742683 MPP3 Nonsynonymous SNV R610G 0.065 0.073 0.092 31 76 28 0.079 27 0 1 2 1 27.7 27223 chr17 61888461 61888461 G A rs56197520 DDX42 Synonymous SNV R442R 0.096 0.102 0.109 29 113 39 0.074 32 6 2 0 1 13.45 27224 chr17 47246979 47246979 A G rs16946912 B4GALNT2 Synonymous SNV E470E 0.089 0.096 0.068 40 104 37 0.103 20 5 0 0 3 0.301 27225 chr6 167754702 167754702 C T rs909546 TTLL2 Synonymous SNV D438D 0.41 0.409 0.408 166 481 157 0.426 120 90 32 24 35 10.02 27226 chr19 49894152 49894152 C T rs7256629 CCDC155 Synonymous SNV P4P 0.446 0.43 0.486 178 524 165 0.456 143 174 55 37 48 8.972 27227 chr19 49899076 49899076 G A rs10405154 CCDC155 Nonsynonymous SNV R129Q 0.569 0.557 0.52 215 668 214 0.551 153 189 60 39 53 0.93 27228 chr6 168352105 168352105 G A rs2076664 AFDN Synonymous SNV P1333P 0.198 0.201 0.177 69 232 77 0.177 52 24 8 4 4 4.182 27229 chr6 168377309 168377309 G A rs61743855 HGC6.3 Synonymous SNV S8S 0.25 0.201 0.17 84 294 77 0.215 50 34 11 6 8 3.699 27230 chr17 71165767 71165767 G A rs747373221 SSTR2 Synonymous SNV V103V 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 5.288 27231 chr19 49901318 49901318 T C rs10421748 CCDC155 Synonymous SNV L183L 0.57 0.563 0.527 218 669 216 0.559 155 191 61 40 55 1.643 27232 chr6 168442687 168442687 A C rs12197062 KIF25 Nonsynonymous SNV T229P 0.101 0.104 0.078 30 119 40 0.077 23 5 3 0 2 0.012 27233 chr19 49930721 49930721 T C rs4802605 GFY Nonsynonymous SNV V345A 0.819 0.867 0.82 317 961 333 0.813 241 389 144 102 134 0.002 27234 chr17 61790848 61790848 C G STRADA Nonsynonymous SNV R52T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 27235 chr19 49930786 49930786 C A rs4801798 GFY Nonsynonymous SNV P367T 0.155 0.174 0.139 66 182 67 0.169 41 15 6 2 2 24.7 27236 chr19 49950298 49950298 C T rs13394 PIH1D1 Nonsynonymous SNV V224I 0.834 0.859 0.82 328 979 330 0.841 241 407 139 96 139 11.45 27237 chr6 168442765 168442765 G A rs2073634 KIF25 Nonsynonymous SNV A255T 0.092 0.104 0.092 22 108 40 0.056 27 5 4 3 2 1.618 27238 chr19 49950356 49950356 C G rs12443 PIH1D1 Synonymous SNV G204G 0.833 0.859 0.82 328 978 330 0.841 241 406 139 96 139 11.13 27239 chr6 168457801 168457801 A G rs3734898 FRMD1 Synonymous SNV A474A 0.844 0.828 0.782 336 991 318 0.862 230 422 131 100 145 2.472 27240 chr19 49954803 49954803 C T rs2293013 PIH1D1 Nonsynonymous SNV G10E 0.83 0.857 0.81 326 975 329 0.836 238 403 138 93 137 0.731 27241 chr6 168459845 168459845 G C rs1548349 FRMD1 Nonsynonymous SNV Q388E 0.84 0.823 0.847 336 986 316 0.862 249 426 131 107 145 0.001 27242 chr19 49954807 49954807 T G rs2293012 PIH1D1 Nonsynonymous SNV M9L 0.83 0.857 0.81 326 975 329 0.836 238 403 138 93 137 0.016 27243 chr17 60766269 60766269 C T rs77011456 MRC2 Synonymous SNV D1094D 0.039 0.068 0.041 20 46 26 0.051 12 0 1 1 1 15.86 27244 chr6 168462626 168462626 G A rs12197610 FRMD1 Synonymous SNV P234P 0.182 0.18 0.201 61 214 69 0.156 59 17 5 6 7 7.24 27245 chr6 168479562 168479562 C T rs80239946 FRMD1 Synonymous SNV G71G 0.034 0.023 0.034 11 40 9 0.028 10 0 0 0 1 12.64 27246 chr19 49964977 49964977 C G rs1320303 ALDH16A1 Nonsynonymous SNV L227V 0.783 0.807 0.721 309 919 310 0.792 212 355 123 76 124 0.001 27247 chr6 168479568 168479568 G A rs78152017 FRMD1 Synonymous SNV A69A 0.074 0.049 0.078 35 87 19 0.09 23 3 1 1 1 11.7 27248 chr19 49965173 49965173 A T rs7259560 ALDH16A1 Synonymous SNV G264G 0.445 0.482 0.415 183 523 185 0.469 122 124 43 31 45 0.012 27249 chr6 168479604 168479604 G A rs34054991 FRMD1 Synonymous SNV L57L 0.846 0.823 0.861 334 993 316 0.856 253 421 132 107 143 9.796 27250 chr6 116441646 116441646 C G rs2228547 COL10A1 Nonsynonymous SNV G545R 0.118 0.115 0.088 36 138 44 0.092 26 5 2 3 0 Benign 23.8 27251 chr17 42092267 42092267 C T rs35301047 TMEM101 Synonymous SNV L18L 0.009 0.016 0.01 1 10 6 0.003 3 0 0 0 0 Benign 15.71 27252 chr19 49967680 49967680 G A rs2293009 ALDH16A1 Synonymous SNV Q395Q 0.465 0.477 0.497 188 546 183 0.482 146 124 45 33 46 13.2 27253 chr6 168694594 168694594 C T rs7764061 DACT2 Nonsynonymous SNV G275R 0.71 0.716 0.677 267 834 275 0.685 199 290 100 66 93 1.176 27254 chr19 49983673 49983673 C T rs1042120 FLT3LG Synonymous SNV A200A 0.144 0.148 0.071 61 169 57 0.156 21 14 7 1 9 13.22 27255 chr19 49994470 49994470 T A rs59192944 SNORD35A 0.162 0.18 0.146 68 190 69 0.174 43 16 8 4 9 11.58 27256 chr6 168695345 168695345 G A rs4708711 DACT2 Nonsynonymous SNV P233L 0.543 0.555 0.503 202 638 213 0.518 148 179 61 38 54 5.719 27257 chr19 49994476 49994476 T C rs56974957 SNORD35A 0.178 0.193 0.163 72 209 74 0.185 48 16 8 4 9 0.45 27258 chr17 6981353 6981353 G C rs732828 CLEC10A Synonymous SNV L49L 0.348 0.383 0.364 145 409 147 0.372 107 56 26 20 34 5.46 27259 chr19 50017724 50017724 C T rs2878342 FCGRT Synonymous SNV R194R 0.111 0.128 0.102 39 130 49 0.1 30 4 7 3 2 15.08 27260 chr6 168708751 168708751 A G rs10945499 DACT2 Synonymous SNV S392S 0.36 0.326 0.408 163 423 125 0.418 120 77 21 25 34 0.525 27261 chr6 168708816 168708816 T G rs10945501 DACT2 Nonsynonymous SNV T371P 0.36 0.326 0.408 162 423 125 0.415 120 76 20 25 33 0.548 27262 chr17 42287700 42287700 G A rs34485877 UBTF Synonymous SNV L464L 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 12.2 27263 chr19 50045878 50045878 C T rs34654230 RCN3 Nonsynonymous SNV R250W 0.116 0.125 0.095 42 136 48 0.108 28 4 6 3 2 28.2 27264 chr17 46474118 46474118 G T rs11079820 SKAP1 Synonymous SNV R26R 0.057 0.034 0.071 19 67 13 0.049 21 3 0 1 1 9.842 27265 chr6 116783330 116783330 G A rs1057192 CALHM6 Nonsynonymous SNV G80R 0.251 0.242 0.235 91 295 93 0.233 69 49 13 7 11 28.9 27266 chr17 62049738 62049738 G A rs41280108 SCN4A Synonymous SNV R122R 0.095 0.091 0.078 33 111 35 0.085 23 7 1 1 3 Benign/Likely benign 2.227 27267 chr19 50045916 50045916 T C rs34459162 RCN3 Synonymous SNV D262D 0.114 0.125 0.099 41 134 48 0.105 29 4 6 3 2 0.046 27268 chr17 42335387 42335387 G A rs5015 SLC4A1 Synonymous SNV L417L 0.058 0.047 0.058 28 68 18 0.072 17 3 0 0 1 Benign/Likely benign 8.734 27269 chr6 168709385 168709385 T C rs6925614 DACT2 Nonsynonymous SNV E181G 0.357 0.326 0.388 164 419 125 0.421 114 74 20 21 33 0.002 27270 chr17 7080316 7080316 C T rs55714927 ASGR1 Synonymous SNV K50K 0.107 0.099 0.099 40 126 38 0.103 29 7 1 1 1 11.17 27271 chr19 50046365 50046365 T C rs3187346 RCN3 Synonymous SNV D294D 0.116 0.125 0.105 42 136 48 0.108 31 4 6 3 2 0.022 27272 chr17 71239087 71239087 G T rs1566290 C17orf80 Synonymous SNV T522T 0.342 0.359 0.224 134 402 138 0.344 66 71 29 15 19 10.14 27273 chr19 50046437 50046437 C T rs1129459 RCN3 Synonymous SNV G318G 0.116 0.125 0.105 42 136 48 0.108 31 4 6 3 2 20.5 27274 chr17 62122734 62122734 C T rs185771482 ERN1 Nonsynonymous SNV V880I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 27275 chr19 50059982 50059982 C G rs4594362 NOSIP Synonymous SNV V183V 0.17 0.182 0.133 60 199 70 0.154 39 15 11 3 3 12.1 27276 chr6 169621536 169621536 A G rs1132742 THBS2 Synonymous SNV T1120T 0.197 0.229 0.245 69 231 88 0.177 72 20 9 8 10 0.042 27277 chr19 50086806 50086806 C T rs3745474 PRRG2 Synonymous SNV F31F 0.239 0.24 0.245 99 280 92 0.254 72 30 13 5 12 14.83 27278 chr19 50091798 50091798 G T rs2288920 PRRG2 Nonsynonymous SNV G116C 0.229 0.232 0.221 95 269 89 0.244 65 29 11 5 12 3.675 27279 chr6 169622490 169622490 G A rs9505895 THBS2 Synonymous SNV A1025A 0.197 0.227 0.224 70 231 87 0.179 66 20 8 7 10 5.652 27280 chr6 116784797 116784797 G A rs11544160 CALHM6 Nonsynonymous SNV E121K 0.063 0.031 0.058 34 74 12 0.087 17 0 0 0 1 10.65 27281 chr17 42427630 42427630 T C rs25646 GRN Synonymous SNV D128D 0.03 0.036 0.054 20 35 14 0.051 16 0 0 0 1 Benign/Likely benign 0.051 27282 chr6 170002338 170002338 C A WDR27 Nonsynonymous SNV A610S 0.002 0.01 0 0 2 4 0 0 0 0 0 0 26.1 27283 chr19 50097784 50097784 T C rs10414643 PRR12 Synonymous SNV L91L 0.282 0.289 0.224 120 331 111 0.308 66 56 18 13 18 1.94 27284 chr19 50098423 50098423 G A rs12462756 PRR12 Synonymous SNV P277P 0.227 0.237 0.173 94 266 91 0.241 51 29 11 5 12 9.118 27285 chr17 62232276 62232276 G A rs61736718 TEX2 Synonymous SNV S952S 0.032 0.057 0.017 6 37 22 0.015 5 0 0 0 0 12.32 27286 chr17 71354282 71354282 G A rs199537367 SDK2 Synonymous SNV H1843H 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 8.861 27287 chr17 63685249 63685249 G A rs199954664 CEP112 Stop gain Q155X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 46 27288 chr6 170871038 170871040 CAA - rs71815788 TBP Q75del 0.789 0.789 0.558 286 926 303 0.733 164 359 120 59 99 27289 chr19 50099422 50099422 C T rs73058052 PRR12 Synonymous SNV A610A 0.224 0.232 0.218 87 263 89 0.223 64 29 11 5 9 10.66 27290 chr17 62270941 62270941 C T rs34343500 TEX2 Synonymous SNV S718S 0.085 0.112 0.071 24 100 43 0.062 21 1 3 2 1 13.37 27291 chr6 170871052 170871052 G A rs112083427 TBP Synonymous SNV Q56Q 0.258 0.273 0.119 89 303 105 0.228 35 22 12 1 3 Uncertain significance 2.584 27292 chr19 50100295 50100295 A G rs3745475 PRR12 Synonymous SNV P901P 0.271 0.276 0.282 116 318 106 0.297 83 50 14 10 16 1.061 27293 chr17 62492582 62492582 C T rs1427463 POLG2 Nonsynonymous SNV A169T 0.135 0.13 0.109 52 159 50 0.133 32 8 4 1 4 Benign 19.67 27294 chr7 286402 286402 A G rs141256626 FAM20C Synonymous SNV T295T 0.216 0.214 0.184 87 254 82 0.223 54 29 10 1 6 Benign 1.296 27295 chr19 50119293 50119293 G T rs189469394 PRR12 Nonsynonymous SNV A1772S 0.011 0.016 0.014 3 13 6 0.008 4 0 0 0 0 0.86 27296 chr17 48543154 48543154 G A rs2231507 CHAD Synonymous SNV P284P 0.054 0.086 0.051 19 63 33 0.049 15 4 2 0 1 7.659 27297 chr7 299850 299850 G T rs36170987 FAM20C Synonymous SNV V553V 0.511 0.521 0.537 198 600 200 0.508 158 152 52 39 49 Benign 8.147 27298 chr17 63010570 63010570 T C rs145562983 GNA13 Synonymous SNV E218E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.609 27299 chr6 117045491 117045491 T C rs2243368 KPNA5 Synonymous SNV L318L 0.045 0.039 0.054 12 53 15 0.031 16 2 0 1 0 8.493 27300 chr17 7154582 7154582 T C rs3744399 CTDNEP1 Nonsynonymous SNV T12A 0.216 0.268 0.218 103 253 103 0.264 64 30 16 6 13 6.12 27301 chr19 50140092 50140092 G A rs1865077 RRAS Synonymous SNV N111N 0.667 0.651 0.694 279 783 250 0.715 204 264 79 68 101 Benign 12.88 27302 chr7 299881 299881 A G rs36139924 FAM20C Nonsynonymous SNV N564D 0.509 0.518 0.537 199 597 199 0.51 158 151 51 39 49 Benign 5.059 27303 chr17 6329917 6329917 C T rs7222126 AIPL1 Nonsynonymous SNV G260S 0.023 0.018 0.014 11 27 7 0.028 4 0 0 0 0 Benign 4.425 27304 chr19 50155353 50155353 C T rs3745471 SCAF1 Synonymous SNV S569S 0.069 0.081 0.037 36 81 31 0.092 11 7 5 2 7 8.133 27305 chr19 50155362 50155367 CCGCTC - rs3833232 SCAF1 R581_S582del 0.1 0.099 0.058 43 117 38 0.11 17 37 13 6 13 27306 chr7 590199 590199 A G rs11545042 PRKAR1B Synonymous SNV T338T 0.072 0.086 0.102 36 85 33 0.092 30 4 1 0 2 0.01 27307 chr19 50156896 50156896 T C rs10401743 SCAF1 Synonymous SNV L1084L 0.919 0.922 0.925 360 1079 354 0.923 272 496 164 127 165 2.5 27308 chr17 42744591 42744591 G A rs750092529 MEIOC Nonsynonymous SNV V438I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 17.48 27309 chr19 50162909 50162909 C G rs7251 IRF3 Nonsynonymous SNV S154T 0.366 0.391 0.429 161 430 150 0.413 126 73 31 23 35 1.05 27310 chr7 618938 618938 A G rs3211362 PRKAR1B Synonymous SNV I282I 0.375 0.385 0.337 154 440 148 0.395 99 90 30 16 28 0.206 27311 chr17 71734008 71734008 C T rs2353109 LOC100134391 0.543 0.536 0 213 637 206 0.546 0 177 56 0 54 7.684 27312 chr17 71746796 71746796 A G rs2620035 LOC100134391 0.497 0.479 0.517 198 583 184 0.508 152 152 43 39 52 1.716 27313 chr7 810219 810219 T C rs4720951 DNAAF5 Nonsynonymous SNV V632A 0.466 0.492 0.463 184 547 189 0.472 136 130 50 32 44 Benign 12.42 27314 chr17 71747278 71747278 G C rs2683159 LOC100134391 0.525 0.503 0.548 208 616 193 0.533 161 170 49 44 57 2.198 27315 chr19 50162953 50162953 C T rs141490768 IRF3 Nonsynonymous SNV A418T 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 24.1 27316 chr17 71747323 71747323 T C rs2683158 LOC100134391 0.526 0.505 0.548 209 618 194 0.536 161 171 49 44 58 2.829 27317 chr19 50248501 50248501 T C rs2304202 TSKS Nonsynonymous SNV D382G 0.05 0.055 0.082 33 59 21 0.085 24 1 0 1 2 10.23 27318 chr17 71747336 71747336 G A rs2620036 LOC100134391 0.525 0.503 0.548 209 616 193 0.536 161 170 48 44 58 3.399 27319 chr7 814788 814788 G A rs3922641 DNAAF5 Nonsynonymous SNV R743K 0.577 0.615 0.582 223 677 236 0.572 171 185 75 51 64 Benign 12.41 27320 chr17 71747394 71747394 C T rs9912784 LOC100134391 0.525 0.503 0.548 208 616 193 0.533 161 170 48 44 57 4.093 27321 chr19 50249905 50249905 T C rs57733064 TSKS Nonsynonymous SNV S272G 0.051 0.055 0.078 29 60 21 0.074 23 1 0 1 2 0.002 27322 chr17 71747397 71747397 G A rs9911115 LOC100134391 0.526 0.505 0.548 208 618 194 0.533 161 171 49 44 57 0.131 27323 chr7 881668 881668 C T rs6461378 SUN1 Nonsynonymous SNV H118Y 0.472 0.492 0.463 176 554 189 0.451 136 132 47 31 42 23 27324 chr19 50249933 50249950 CTGCTTCTCCTCCGGCTC - rs550916960 TSKS E257_Q262del 0.106 0.094 0.122 42 125 36 0.108 36 5 0 2 2 27325 chr17 63221445 63221445 T C rs984061228 RGS9 Nonsynonymous SNV M575T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.985 27326 chr6 117708971 117708971 C T rs9489143 ROS1 Synonymous SNV E662E 0.11 0.154 0.122 58 129 59 0.149 36 9 2 4 4 8.647 27327 chr19 50312653 50312653 C T rs2305921 FUZ Synonymous SNV L188L 0.118 0.115 0.146 48 139 44 0.123 43 7 3 2 2 18.54 27328 chr7 889169 889169 A G rs74742245 SUN1 Nonsynonymous SNV Y174C 0.143 0.138 0.16 71 168 53 0.182 47 13 2 3 5 10.11 27329 chr19 50354211 50354211 C T rs7260222 PTOV1 Nonsynonymous SNV S25L 0.365 0.393 0.442 157 429 151 0.403 130 72 28 31 36 9.578 27330 chr17 7197794 7197794 C A rs222859 YBX2 Nonsynonymous SNV G9V 0.787 0.779 0.048 324 924 299 0.831 14 405 128 7 144 18.13 27331 chr7 897492 897492 A G rs10950789 SUN1 Synonymous SNV T371T 0.302 0.268 0.269 140 355 103 0.359 79 55 16 16 26 0.006 27332 chr19 50358133 50358133 T G rs75478119 PTOV1 Synonymous SNV P146P 0.296 0.31 0.401 143 348 119 0.367 118 66 24 28 35 5.834 27333 chr19 50360989 50360989 A G rs59595912 PTOV1 Nonsynonymous SNV I252V 0.097 0.109 0.143 42 114 42 0.108 42 3 3 5 3 12.89 27334 chr17 64024514 64024514 T C rs753401833 CEP112 Nonsynonymous SNV M463V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 27335 chr7 897496 897496 G A rs59910530 SUN1 Nonsynonymous SNV E373K 0.145 0.138 0.156 72 170 53 0.185 46 13 2 3 5 0.585 27336 chr19 50383591 50383591 A G rs8109661 TBC1D17 Nonsynonymous SNV D51G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.37 27337 chr6 118887351 118887351 C A rs767185741 CEP85L Nonsynonymous SNV D121Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 27338 chr7 930608 930608 G A rs11543223 GET4 Synonymous SNV A170A 0.064 0.076 0.054 35 75 29 0.09 16 0 0 2 3 8.811 27339 chr19 50383636 50383636 T C rs3745486 TBC1D17 Nonsynonymous SNV L66P 0.432 0.456 0.49 195 507 175 0.5 144 111 44 35 51 0.193 27340 chr17 64785022 64785022 G A rs2228945 PRKCA Synonymous SNV E593E 0.093 0.083 0.082 35 109 32 0.09 24 9 2 1 2 11.2 27341 chr7 930689 930689 C T rs13171 GET4 Synonymous SNV A197A 0.148 0.128 0.156 71 174 49 0.182 46 18 2 3 7 16.98 27342 chr17 72346868 72346868 C T rs2382644 KIF19 Nonsynonymous SNV R471W 0.153 0.167 0.119 49 180 64 0.126 35 18 2 2 2 23.1 27343 chr6 119136759 119136759 A C rs65685 MCM9 Nonsynonymous SNV M887R 0.112 0.133 0.129 55 132 51 0.141 38 7 3 3 4 0.002 27344 chr17 63683 63683 G A rs117190076 RPH3AL Nonsynonymous SNV A274V 0.054 0.063 0.058 23 63 24 0.059 17 1 0 0 0 18.3 27345 chr17 648157 648157 G A rs1045481 GEMIN4 Synonymous SNV I1042I 0.227 0.221 0.18 99 266 85 0.254 53 32 7 6 13 0.6 27346 chr17 71397262 71397262 C T rs145375289 SDK2 Synonymous SNV T956T 0.01 0.013 0.01 5 12 5 0.013 3 0 0 0 0 18.03 27347 chr7 940181 940181 C T rs10256887 ADAP1 Nonsynonymous SNV G146S 0.86 0.888 0.871 330 1010 341 0.846 256 435 155 111 141 9.071 27348 chr19 50404939 50404939 T G rs1290754 IL4I1 Synonymous SNV I12I 0.491 0.51 0.524 199 577 196 0.51 154 139 51 42 50 10.89 27349 chr17 71398170 71398170 G C rs9302962 SDK2 Synonymous SNV T865T 0.3 0.315 0.31 126 352 121 0.323 91 42 21 14 20 11.05 27350 chr19 50411742 50411742 A G rs892028 NUP62 Synonymous SNV D441D 0.94 0.953 0.918 362 1103 366 0.928 270 522 175 124 169 Likely benign 0.576 27351 chr6 119137011 119137011 G A rs35917528 MCM9 Nonsynonymous SNV P803L 0.083 0.091 0.105 40 98 35 0.103 31 4 2 1 1 11.25 27352 chr17 72350362 72350362 G A rs72852235 KIF19 Synonymous SNV S790S 0.394 0.393 0.333 150 463 151 0.385 98 91 28 15 27 10.93 27353 chr19 5041178 5041178 T C rs2240678 KDM4B Synonymous SNV D116D 0.913 0.906 0.884 356 1072 348 0.913 260 489 157 114 162 0.165 27354 chr7 966266 966266 G A rs1008760311 ADAP1 Synonymous SNV H4H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.49 27355 chr19 50412417 50412417 G A rs999583 NUP62 Synonymous SNV S216S 0.775 0.763 0.69 305 910 293 0.782 203 355 115 73 119 Likely benign 2.313 27356 chr7 1023013 1023013 C T rs2272375 CYP2W1 Synonymous SNV L56L 0.303 0.323 0.241 139 356 124 0.356 71 59 21 10 29 11.04 27357 chr19 50453317 50453317 C T rs9304690 SIGLEC11 Synonymous SNV S573S 0.246 0.216 0.262 98 289 83 0.251 77 44 9 6 7 8.882 27358 chr7 1131394 1131394 G A rs34497267 GPER1 Synonymous SNV V10V 0.092 0.076 0.065 63 108 29 0.162 19 6 1 0 7 0.129 27359 chr6 119327632 119327632 C T rs17827619 FAM184A Nonsynonymous SNV D479N 0.076 0.089 0.102 41 89 34 0.105 30 2 0 2 3 16.38 27360 chr19 50726570 50726570 G A rs4801822 MYH14 Synonymous SNV A219A 0.575 0.523 0.541 213 675 201 0.546 159 202 52 37 59 Benign 10.23 27361 chr7 1132153 1132153 G A rs3808352 GPER1 Synonymous SNV A263A 0.193 0.159 0.19 103 226 61 0.264 56 18 6 3 11 1.897 27362 chr19 50762418 50762418 A G rs1651553 MYH14 Synonymous SNV P709P 0.703 0.724 0.707 282 825 278 0.723 208 288 98 70 104 Benign 2.61 27363 chr7 1481919 1481919 C A rs4236408 MICALL2 Synonymous SNV A540A 0.963 0.984 0.98 375 1131 378 0.962 288 545 186 141 180 12.56 27364 chr19 50796905 50796905 G A rs3745509 MYH14 Synonymous SNV S1769S 0.745 0.742 0.745 284 875 285 0.728 219 325 108 80 102 Benign 14.14 27365 chr17 649505 649505 T A rs4968104 GEMIN4 Nonsynonymous SNV E593V 0.228 0.221 0.184 99 268 85 0.254 54 33 7 6 13 8.391 27366 chr7 1482009 1482009 G C rs61744261 MICALL2 Synonymous SNV L510L 0.159 0.159 0.133 60 187 61 0.154 39 9 5 5 5 0.067 27367 chr17 7251713 7251713 C T rs35019942 ACAP1 Nonsynonymous SNV R533W 0.014 0.013 0.017 9 17 5 0.023 5 0 0 0 0 28 27368 chr19 50863023 50863023 A G rs638294 NAPSA Synonymous SNV P255P 0.348 0.326 0.374 147 408 125 0.377 110 75 21 21 26 2.055 27369 chr7 1484572 1484572 A G rs10435184 MICALL2 Synonymous SNV G378G 0.975 0.984 0.939 377 1145 378 0.967 276 563 187 137 184 6.684 27370 chr19 50865535 50865535 A G rs676314 NAPSA Nonsynonymous SNV I40T 0.35 0.326 0.384 148 411 125 0.379 113 76 21 22 26 0.001 27371 chr7 1533513 1533513 A G rs2251226 INTS1 Synonymous SNV L649L 0.468 0.482 0.49 186 549 185 0.477 144 131 47 36 45 5.883 27372 chr6 121629167 121629167 G A rs9398629 TBC1D32 Synonymous SNV C215C 0.259 0.31 0.306 104 304 119 0.267 90 47 12 16 15 11.31 27373 chr19 50881820 50881820 - AAC rs397738863 NR1H2 Q78_E79insQ 0.572 0.591 0.534 214 671 227 0.549 157 202 66 47 56 27374 chr7 1542697 1542697 G A rs3752714 INTS1 Synonymous SNV A63A 0.467 0.484 0.493 185 548 186 0.474 145 130 47 37 44 8.871 27375 chr17 7254315 7254315 G A rs35985803 ACAP1 Nonsynonymous SNV A707T 0.089 0.089 0.054 30 104 34 0.077 16 5 1 1 0 12.05 27376 chr17 71751953 71751953 G A rs12453188 LOC100134391 0.003 0.008 0 2 4 3 0.005 0 1 0 0 0 1.547 27377 chr19 50881822 50881822 - CAG rs34296657 NR1H2 Q78_E79insQ 0.353 0.331 0.391 149 414 127 0.382 115 78 23 22 26 27378 chr7 1542814 1542814 T C rs3752715 INTS1 Synonymous SNV P24P 0.413 0.424 0.483 167 485 163 0.428 142 130 46 37 44 0.004 27379 chr19 50909765 50909765 C T rs2230245 POLD1 Synonymous SNV T495T 0.106 0.13 0.116 39 124 50 0.1 34 8 5 2 3 Benign 18.98 27380 chr17 72563421 72563421 T C rs905709 CD300H, LOC100130520 0.581 0.578 0 214 682 222 0.549 0 197 70 0 55 8.744 27381 chr19 50926264 50926264 T C rs1673030 SPIB Nonsynonymous SNV L84P 0.892 0.914 0.857 349 1047 351 0.895 252 466 160 114 154 0.002 27382 chr7 1586653 1586653 - GCC rs112463195 TMEM184A G392_S393insG 0.515 0.523 0.493 211 605 201 0.541 145 160 58 42 61 27383 chr6 123696766 123696766 G T rs17737379 TRDN Nonsynonymous SNV D420E 0.154 0.188 0.18 72 181 72 0.185 53 11 5 10 4 Benign 9.356 27384 chr19 50926265 50926265 G C rs11546996 SPIB Nonsynonymous SNV A104P 0.692 0.742 0.67 269 812 285 0.69 197 279 103 71 95 Benign 10.92 27385 chr7 1586662 1586662 T C rs3779607 TMEM184A Nonsynonymous SNV S390G 0.535 0.539 0.524 212 628 207 0.544 154 167 62 46 62 0.002 27386 chr6 123699019 123699019 A C rs28494009 TRDN Nonsynonymous SNV V405G 0.085 0.104 0.061 34 100 40 0.087 18 3 1 1 0 Benign 19.78 27387 chr19 50957396 50957396 C T rs367652504 MYBPC2 Synonymous SNV P623P 0.003 0.003 0.01 5 4 1 0.013 3 0 0 0 1 14.31 27388 chr7 1938001 1938001 G A rs61751744 MAD1L1 Synonymous SNV A67A 0.037 0.034 0.027 13 43 13 0.033 8 3 0 0 0 8.537 27389 chr17 72608834 72608834 G A rs579238 CD300E Synonymous SNV V192V 0.297 0.323 0.269 119 349 124 0.305 79 52 21 12 15 6.674 27390 chr19 50965272 50965272 T C rs25668 MYBPC2 Synonymous SNV C1069C 0.694 0.677 0.687 253 815 260 0.649 202 276 91 69 78 0.043 27391 chr7 1976432 1976432 C T rs1801550 MAD1L1 Synonymous SNV A22A 0.04 0.034 0.031 14 47 13 0.036 9 3 0 0 0 15.31 27392 chr17 7218351 7218351 G A rs142288970 GPS2 Synonymous SNV R7R 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 12.54 27393 chr17 72610089 72610089 C T rs1878061 CD300E Nonsynonymous SNV G158R 0.402 0.424 0.35 184 472 163 0.472 103 96 41 22 42 0.02 27394 chr19 50983930 50983930 C T rs10409679 EMC10 Synonymous SNV P165P 0.597 0.591 0.605 208 701 227 0.533 178 212 72 54 53 11.58 27395 chr17 5009238 5009238 G A rs200610356 ZNF232 Nonsynonymous SNV R397W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 25.7 27396 chr7 2290372 2290372 C T rs10230822 NUDT1 0.557 0.583 0.663 244 654 224 0.626 195 263 92 68 103 0.249 27397 chr17 7218354 7218354 C T rs147873069 GPS2 Synonymous SNV E6E 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 14.81 27398 chr19 51015404 51015404 T C rs12977172 ASPDH Nonsynonymous SNV Q161R 0.702 0.708 0.65 249 824 272 0.638 191 291 100 70 82 9.597 27399 chr17 4439683 4439683 G C rs183074870 SPNS2 Synonymous SNV A523A 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 Benign 2.442 27400 chr7 2297006 2297006 A G rs6888 SNX8 Synonymous SNV I376I 0.948 0.956 0.942 366 1113 367 0.938 277 527 175 132 173 2.497 27401 chr17 4442908 4442908 T A rs150145302 MYBBP1A Synonymous SNV G1263G 0.015 0.016 0.007 9 18 6 0.023 2 0 0 0 1 1.589 27402 chr19 5110794 5110794 A G rs2613739 KDM4B Synonymous SNV A360A 0.516 0.529 0.476 192 606 203 0.492 140 161 54 40 48 0.287 27403 chr17 72233559 72233559 G A rs62621376 TTYH2 Nonsynonymous SNV V160I 0.244 0.26 0.303 96 287 100 0.246 89 41 15 16 9 0.147 27404 chr7 2303986 2303986 T C rs2286206 SNX8 Synonymous SNV A243A 0.947 0.953 0.935 366 1112 366 0.938 275 526 174 130 173 0.489 27405 chr19 5111867 5111867 C T rs8101595 KDM4B Synonymous SNV R399R 0.072 0.086 0.054 26 85 33 0.067 16 2 0 0 2 1.722 27406 chr7 2394746 2394746 T C rs9690787 EIF3B Nonsynonymous SNV S64P 0.44 0.469 0.279 205 516 180 0.526 82 232 85 41 90 0.069 27407 chr6 126080522 126080522 G C rs61737181 HEY2 Synonymous SNV L196L 0.11 0.12 0.099 43 129 46 0.11 29 10 5 0 2 4.795 27408 chr19 51128661 51128661 T C rs16986142 SYT3 Synonymous SNV V521V 0.755 0.781 0.793 306 886 300 0.785 233 331 116 96 117 5.852 27409 chr17 72240168 72240168 G A rs35682745 TTYH2 Nonsynonymous SNV A241T 0.092 0.091 0.054 30 108 35 0.077 16 7 2 2 1 11.7 27410 chr19 51133356 51133356 C G rs10407511 SYT3 Synonymous SNV R249R 0.697 0.721 0.66 274 818 277 0.703 194 284 96 76 97 12.32 27411 chr19 51159571 51159571 T G rs4801844 C19orf81 Nonsynonymous SNV S77A 0.896 0.917 0.918 349 1052 352 0.895 270 472 162 125 157 0.619 27412 chr7 2394991 2394991 C T rs11551167 EIF3B Synonymous SNV N145N 0.187 0.219 0.282 73 219 84 0.187 83 35 20 16 12 11.94 27413 chr17 72240177 72240177 T G rs35999669 TTYH2 Nonsynonymous SNV S244A 0.324 0.32 0.221 124 380 123 0.318 65 73 25 23 18 0.153 27414 chr7 2552881 2552881 - GATG rs34637446 LFNG Frameshift insertion E56Gfs*2 0.311 0.294 0.31 107 365 113 0.274 91 60 18 13 10 27415 chr19 51170706 51170706 A G rs3745521 SHANK1 Nonsynonymous SNV V1504A 0.773 0.721 0.816 296 908 277 0.759 240 376 113 103 119 0.003 27416 chr7 2611878 2611878 T C rs2917751 IQCE Synonymous SNV T39T 0.707 0.672 0.653 290 830 258 0.744 192 289 93 65 106 1.454 27417 chr17 72839130 72839130 - GCTCCGGGG rs139495021 GRIN2C E1048_L1049insPPE 0.784 0.773 0.163 298 921 297 0.764 48 417 136 23 136 27418 chr6 128040839 128040839 T C rs675531 THEMIS Nonsynonymous SNV I630V 0.674 0.648 0.643 238 791 249 0.61 189 275 84 64 69 0.001 27419 chr7 2752152 2752152 G A rs798565 AMZ1 Synonymous SNV S379S 0.227 0.237 0.197 98 267 91 0.251 58 30 12 3 12 8.058 27420 chr19 51293955 51293955 G A rs2162784 ACP4 Synonymous SNV T72T 0.094 0.089 0.143 38 110 34 0.097 42 10 1 6 3 18.31 27421 chr19 51321813 51321813 A G rs2411334 LINC01869 0 0 0.561 0 0 0 0 165 0 0 48 0 6.15 27422 chr7 2752487 2752487 G A rs7776970 AMZ1 Nonsynonymous SNV R491H 0.332 0.336 0.378 139 390 129 0.356 111 54 25 22 20 11.56 27423 chr17 7286266 7286266 C T rs1554947 TNK1 Synonymous SNV S7S 0.435 0.466 0.463 172 511 179 0.441 136 116 44 30 39 13.22 27424 chr19 51323473 51323473 C G rs5516 KLK1 Nonsynonymous SNV E145Q 0.652 0.669 0.667 250 765 257 0.641 196 249 85 66 79 0.002 27425 chr7 2802522 2802522 T C rs798488 GNA12 Star tloss M1? 0.244 0.242 0.163 109 287 93 0.279 48 31 13 3 11 1.708 27426 chr17 72889676 72889676 - GGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC FADS6 P15_A16insTEPMEPTEPMEPTEPMEP 0.583 0.604 0.452 245 685 232 0.628 133 240 86 58 87 27427 chr19 51323501 51323501 A G rs1054713 KLK1 Synonymous SNV D135D 0.65 0.667 0.667 248 763 256 0.636 196 247 84 66 77 0.062 27428 chr17 48072225 48072225 G A rs33937843 DLX3 Synonymous SNV P46P 0.025 0.031 0.048 11 29 12 0.028 14 0 0 1 0 Benign 12.24 27429 chr17 72295966 72295966 C T rs34159194 DNAI2 Synonymous SNV T278T 0.116 0.107 0.109 33 136 41 0.085 32 9 1 1 2 Benign 18.39 27430 chr19 5135392 5135392 A G rs2620836 KDM4B Nonsynonymous SNV K710E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.015 27431 chr7 2854010 2854010 G A rs2644275 GNA12 Nonsynonymous SNV T23I 0.397 0.359 0.384 161 466 138 0.413 113 95 25 21 35 1.356 27432 chr17 66416357 66416357 C T rs62000424 ARSG Nonsynonymous SNV T444M 0.095 0.096 0.109 53 112 37 0.136 32 7 2 3 6 2.736 27433 chr19 51361757 51361757 T C rs17632542 KLK3 Nonsynonymous SNV I179T 0.052 0.065 0.088 20 61 25 0.051 26 1 2 2 1 9.571 27434 chr7 2946461 2946461 T C rs1124581 CARD11 Synonymous SNV R1092R 0.509 0.521 0.439 197 597 200 0.505 129 154 60 28 48 Benign 0.016 27435 chr19 5137298 5137298 G A rs17179181 KDM4B Synonymous SNV L778L 0.068 0.081 0.041 24 80 31 0.062 12 1 0 0 2 8.521 27436 chr7 2959042 2959042 T C rs755769843 CARD11 Nonsynonymous SNV H825R 0.003 0 0 4 4 0 0.01 0 0 0 0 0 0.004 27437 chr17 7230845 7230845 G T rs11655578 NEURL4 Nonsynonymous SNV P214H 0.256 0.276 0.259 98 300 106 0.251 76 42 18 10 11 24.4 27438 chr19 51379893 51379893 C T rs198972 KLK2 Synonymous SNV L22L 0.326 0.359 0.337 135 383 138 0.346 99 65 27 19 23 9.093 27439 chr19 51381777 51381777 C T rs198977 KLK2 Nonsynonymous SNV R148W 0.286 0.307 0.262 112 336 118 0.287 77 49 17 10 12 10.11 27440 chr7 3991463 3991463 C T rs144614861 SDK1 Nonsynonymous SNV S354F 0.004 0 0 5 5 0 0.013 0 0 0 0 0 7.83 27441 chr17 65720185 65720185 C T rs150197636 NOL11 Synonymous SNV Y180Y 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 6.573 27442 chr19 51411636 51411636 G T rs2569527 KLK4 Nonsynonymous SNV H102Q 0.996 1 0.993 385 1169 384 0.987 292 582 192 145 190 Benign 0.002 27443 chr17 66538239 66538239 G T rs2302234 FAM20A Nonsynonymous SNV N332K 0.329 0.302 0.262 134 386 116 0.344 77 65 14 10 29 Benign 23.4 27444 chr7 4026944 4026944 C G rs7785899 SDK1 Synonymous SNV L707L 0.349 0.354 0.313 124 410 136 0.318 92 69 23 15 22 10.34 27445 chr6 130154667 130154667 T C rs9492393 TMEM244 Nonsynonymous SNV E86G 0.354 0.359 0.405 141 416 138 0.362 119 77 27 29 25 24.8 27446 chr7 4116665 4116665 G A rs11978101 SDK1 Nonsynonymous SNV D1016N 0.33 0.346 0.33 121 387 133 0.31 97 64 26 17 21 3.835 27447 chr19 51412666 51412666 C A rs1654552 KLK4 Synonymous SNV S22S 0.473 0.435 0.507 174 555 167 0.446 149 124 39 42 39 Benign 17.55 27448 chr19 51452250 51452250 T C rs183854 KLK5 Nonsynonymous SNV N153D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 5.996 27449 chr7 4172006 4172006 C T rs13224870 SDK1 Synonymous SNV S1393S 0.384 0.391 0.418 162 451 150 0.415 123 93 32 25 29 16.24 27450 chr19 51485622 51485622 A G rs2659067 KLK7 Nonsynonymous SNV L54P 0.854 0.875 0.874 334 1003 336 0.856 257 432 147 111 140 0.204 27451 chr17 6683878 6683878 C T rs1509123 FBXO39 Nonsynonymous SNV L231F 0.078 0.055 0.068 25 91 21 0.064 20 5 0 0 1 18.55 27452 chr17 72943126 72943126 G A rs8066909 OTOP3 Synonymous SNV A374A 0.451 0.432 0.486 173 530 166 0.444 143 129 40 32 42 1.281 27453 chr19 51487175 51487175 T G rs1624358 KLK7 Star tloss M1? 0.849 0.867 0.871 335 997 333 0.859 256 432 147 111 141 7.035 27454 chr7 4213877 4213877 T C rs601424 SDK1 Synonymous SNV N95N 0.611 0.68 0.66 253 717 261 0.649 194 220 89 67 76 7.326 27455 chr19 51507020 51507020 T G rs2075802 KLK9 Synonymous SNV G181G 0.465 0.458 0.408 198 546 176 0.508 120 123 38 27 52 3.607 27456 chr7 4213940 4213940 T C rs671756 SDK1 Synonymous SNV T116T 0.618 0.682 0.656 256 726 262 0.656 193 224 90 66 79 0.185 27457 chr19 51519236 51519236 A G rs2075690 KLK10 Nonsynonymous SNV L149P 0.527 0.536 0.449 215 619 206 0.551 132 165 49 30 68 0.233 27458 chr17 5462240 5462240 C T rs61753142 NLRP1 Synonymous SNV R592R 0.125 0.125 0.105 62 147 48 0.159 31 10 2 0 7 6.152 27459 chr17 66982447 66982447 C T rs9916254 ABCA9 Nonsynonymous SNV G1356S 0.009 0.003 0.017 3 11 1 0.008 5 0 0 0 0 0.021 27460 chr17 72949146 72949146 C T rs2307010 HID1 Synonymous SNV P669P 0.296 0.318 0.279 126 347 122 0.323 82 56 20 11 17 13.36 27461 chr6 130454616 130454616 C T rs111502673 L3MBTL3 Synonymous SNV T637T 0.026 0.039 0.061 10 30 15 0.026 18 0 0 0 0 14.29 27462 chr7 4213975 4213975 A G rs671694 SDK1 Nonsynonymous SNV H128R 0.647 0.719 0.701 270 759 276 0.692 206 242 100 77 89 0.46 27463 chr19 51519259 51519259 C T rs2075689 KLK10 Synonymous SNV L141L 0.527 0.536 0.452 215 619 206 0.551 133 165 49 30 68 11.17 27464 chr6 131190838 131190838 G A rs17059736 EPB41L2 Synonymous SNV P352P 0.121 0.146 0.105 58 142 56 0.149 31 13 4 2 6 1.73 27465 chr19 51519346 51519346 G C rs1061368 KLK10 Synonymous SNV T112T 0.313 0.328 0.286 143 367 126 0.367 84 61 14 13 28 0.314 27466 chr17 72954285 72954285 G A rs145277511 HID1 Synonymous SNV H474H 0.005 0.008 0 7 6 3 0.018 0 0 0 0 0 11.14 27467 chr17 66539847 66539847 C T rs2286562 FAM20A Synonymous SNV E245E 0.216 0.214 0.143 91 254 82 0.233 42 28 6 2 14 14.35 27468 chr19 51519364 51519364 T G rs2075688 KLK10 Synonymous SNV G106G 0.629 0.617 0.551 250 739 237 0.641 162 227 69 49 89 7.298 27469 chr6 132061420 132061420 G A rs17601580 ENPP3 Nonsynonymous SNV S786N 0.199 0.237 0.187 87 234 91 0.223 55 21 9 4 11 28 27470 chr7 4780514 4780514 G T rs3087749 FOXK1 Synonymous SNV T202T 0.402 0.456 0.422 163 472 175 0.418 124 91 42 24 35 11.04 27471 chr17 72956124 72956124 G A rs3744198 HID1 Synonymous SNV A316A 0.429 0.404 0.422 155 504 155 0.397 124 113 33 27 33 11.75 27472 chr17 72436767 72436767 C T rs746327830 GPRC5C Synonymous SNV L284L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 8.934 27473 chr17 54969304 54969304 G A rs113318936 TRIM25 Synonymous SNV C550C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 15.56 27474 chr19 51520487 51520487 A C rs3745535 KLK10 Nonsynonymous SNV S50A 0.626 0.62 0.544 251 735 238 0.644 160 219 70 49 86 0.002 27475 chr17 7245371 7245371 A G rs4796407 ACAP1 Synonymous SNV P72P 0.33 0.341 0.344 155 387 131 0.397 101 60 20 20 27 4.414 27476 chr7 4802029 4802029 T G rs6976790 FOXK1 Synonymous SNV G712G 0.928 0.883 0.837 345 1090 339 0.885 246 533 163 118 165 0.235 27477 chr19 51535130 51535130 A G rs3745540 KLK12 0.616 0.625 0.653 263 723 240 0.674 192 234 77 62 81 23.2 27478 chr7 4830463 4830463 G A rs11766611 AP5Z1 Nonsynonymous SNV V544M 0.024 0.021 0.037 19 28 8 0.049 11 0 0 1 0 Benign 10.88 27479 chr17 6683215 6683215 C T rs4796555 FBXO39 Nonsynonymous SNV P10S 0.19 0.177 0.184 87 223 68 0.223 54 20 6 3 11 12.25 27480 chr19 51584916 51584916 G A rs2569491 KLK14 Nonsynonymous SNV H29Y 0.426 0.409 0.435 163 500 157 0.418 128 99 34 28 32 0.016 27481 chr17 73127348 73127348 G A rs11541956 NT5C Nonsynonymous SNV P68L 0.012 0.013 0 12 14 5 0.031 0 0 0 0 0 25.2 27482 chr17 55183195 55183195 C T rs17833723 AKAP1 Nonsynonymous SNV R124C 0.014 0.013 0.014 8 17 5 0.021 4 0 0 0 0 12.86 27483 chr17 67039645 67039645 C T rs61744800 ABCA9 Nonsynonymous SNV R262Q 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 18.56 27484 chr17 6704071 6704071 G A rs17804647 TEKT1 Synonymous SNV V348V 0.152 0.172 0.17 65 179 66 0.167 50 13 6 4 7 9.967 27485 chr7 4841470 4841470 T C rs414035 RADIL Nonsynonymous SNV S886G 0.991 0.987 0.973 383 1163 379 0.982 286 577 188 141 188 0.002 27486 chr19 51584951 51584951 T C rs35287116 KLK14 Nonsynonymous SNV Q17R 0.485 0.482 0.469 185 569 185 0.474 138 125 43 32 45 5.377 27487 chr6 132892253 132892253 G A rs8192624 TAAR6 Nonsynonymous SNV V265I 0.077 0.081 0.099 19 90 31 0.049 29 2 1 1 0 0.207 27488 chr17 72584764 72584764 C T rs783239 CD300LD Nonsynonymous SNV V89M 0.179 0.169 0.224 71 210 65 0.182 66 17 6 6 6 9.54 27489 chr17 6690161 6690161 C T rs17853331 FBXO39 Synonymous SNV I362I 0.19 0.182 0.17 88 223 70 0.226 50 22 6 4 11 13.23 27490 chr7 4900095 4900095 A G rs1553960 PAPOLB Synonymous SNV N449N 0.386 0.378 0.425 147 453 145 0.377 125 91 18 28 31 0.297 27491 chr19 51628529 51628529 A G rs2075803 SIGLEC9 Nonsynonymous SNV K100E 0.569 0.57 0.575 218 668 219 0.559 169 187 68 50 64 0.602 27492 chr17 73205976 73205976 T C rs34126097 NUP85 Synonymous SNV D16D 0.147 0.135 0.167 59 172 52 0.151 49 17 6 1 4 3.398 27493 chr6 132892332 132892332 G A rs8192625 TAAR6 Nonsynonymous SNV C291Y 0.05 0.049 0.071 16 59 19 0.041 21 1 0 0 0 0.042 27494 chr7 4900341 4900341 G A rs17135247 PAPOLB Synonymous SNV S367S 0.29 0.297 0.333 101 340 114 0.259 98 46 10 20 17 8.092 27495 chr17 7321067 7321067 C T rs62061175 NLGN2 Synonymous SNV A819A 0.315 0.31 0 132 370 119 0.338 0 134 39 0 38 9.134 27496 chr17 4623851 4623851 C T ARRB2 Nonsynonymous SNV T348I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 27497 chr17 56060215 56060215 T C rs2228270 VEZF1 Synonymous SNV R191R 0.061 0.076 0.058 25 72 29 0.064 17 2 0 0 1 0.432 27498 chr19 51630482 51630482 C A rs2258983 SIGLEC9 Nonsynonymous SNV A315E 0.569 0.568 0.588 218 668 218 0.559 173 185 68 51 63 0.008 27499 chr7 4959807 4959807 G A rs932061 MMD2 Synonymous SNV H95H 0.396 0.409 0.378 145 465 157 0.372 111 101 32 23 27 9.017 27500 chr6 132910612 132910612 G A rs3813355 TAAR5 Synonymous SNV L72L 0.641 0.672 0.636 241 753 258 0.618 187 246 83 59 80 0.297 27501 chr17 72588778 72588778 C T rs58253413 C17orf77 Nonsynonymous SNV T198I 0.033 0.044 0.075 10 39 17 0.026 22 2 0 1 0 10.19 27502 chr7 5254227 5254227 C G rs4587243 WIPI2 Synonymous SNV V32V 0.986 0.987 0.997 388 1158 379 0.995 293 572 187 146 193 9.623 27503 chr19 51656218 51656218 G C rs273661 LOC101928517 0.89 0.901 0.874 344 1045 346 0.882 257 490 163 123 154 0.37 27504 chr6 132910634 132910634 C T rs3813354 TAAR5 Synonymous SNV A64A 0.147 0.138 0.139 66 173 53 0.169 41 9 2 3 10 15.13 27505 chr19 51656454 51656454 A T rs273662 SIGLEC7 Synonymous SNV G359G 0.914 0.919 0.946 345 1073 353 0.885 278 491 163 132 151 1.176 27506 chr7 5372406 5372406 G T rs13238738 TNRC18 Synonymous SNV R1998R 0.624 0.609 0.514 226 733 234 0.579 151 232 74 56 67 10.64 27507 chr6 132966279 132966279 T C rs8192620 TAAR1 Synonymous SNV V288V 0.193 0.198 0.197 88 227 76 0.226 58 25 7 9 8 0.019 27508 chr19 51738920 51738920 T C rs61736475 CD33 Nonsynonymous SNV S178P 0.026 0.029 0.031 11 30 11 0.028 9 0 0 0 0 0.002 27509 chr17 6703382 6703382 G T rs117538098 TEKT1 Synonymous SNV V407V 0.02 0.031 0.014 10 24 12 0.026 4 0 0 0 1 3.272 27510 chr7 5399044 5399044 C G rs12531309 TNRC18 Synonymous SNV S1606S 0.181 0.156 0.15 84 212 60 0.215 44 18 5 2 10 9.729 27511 chr19 51835892 51835892 - G rs11402251 VSIG10L Frameshift insertion Q860Tfs*23 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 27512 chr17 73269258 73269258 G C rs7198 LOC100287042 0.577 0.599 0 227 677 230 0.582 0 196 70 0 63 Benign 3.129 27513 chr7 5410425 5410425 G C rs12671708 TNRC18 Nonsynonymous SNV A1267G 0.359 0.341 0.31 148 421 131 0.379 91 72 20 16 28 6.097 27514 chr17 67109493 67109493 A G rs2058128 ABCA6 Synonymous SNV L637L 0.011 0 0.007 2 13 0 0.005 2 1 0 0 0 0.467 27515 chr19 51841417 51841417 C T rs34380065 VSIG10L Nonsynonymous SNV R592Q 0.566 0.581 0.578 234 665 223 0.6 170 174 58 53 71 2.924 27516 chr17 56326521 56326521 G C rs8178329 LPO Synonymous SNV T59T 0.089 0.109 0.116 36 105 42 0.092 34 3 2 2 1 1.373 27517 chr6 133035098 133035098 G A rs2294757 VNN1 Nonsynonymous SNV T26I 0.38 0.375 0.303 122 446 144 0.313 89 111 32 15 13 0.001 27518 chr17 73269676 73269676 C T rs4789164 SLC25A19 Synonymous SNV L273L 0.575 0.596 0.537 227 675 229 0.582 158 196 69 38 63 Benign 7.832 27519 chr17 56332327 56332327 G A rs2301870 LPO Nonsynonymous SNV V338M 0.149 0.146 0.17 49 175 56 0.126 50 19 5 3 2 9.989 27520 chr19 51843808 51843808 C T rs7259266 VSIG10L Nonsynonymous SNV M356I 0.589 0.599 0.575 241 691 230 0.618 169 195 65 51 73 0.055 27521 chr7 5427652 5427652 G A rs4720623 TNRC18 Synonymous SNV A601A 0.324 0.32 0.306 126 380 123 0.323 90 70 17 19 21 9.966 27522 chr7 5427720 5427720 A G rs4724663 TNRC18 Nonsynonymous SNV S579P 0.989 0.987 0.99 380 1161 379 0.974 291 575 187 144 185 7.934 27523 chr17 67150465 67150465 - ACCTGGAA rs137962621 ABCA10 Frameshift insertion E1233Ffs*9 0.01 0 0.007 2 12 0 0.005 2 1 0 0 0 27524 chr19 51844978 51844978 G T rs8105710 VSIG10L Synonymous SNV S108S 0.589 0.599 0.588 241 691 230 0.618 173 195 65 53 73 0.364 27525 chr17 67109833 67109833 T A rs9282554 ABCA6 Nonsynonymous SNV N610Y 0.05 0.036 0.041 18 59 14 0.046 12 1 0 0 0 14.59 27526 chr19 51845371 51845371 T G rs10414211 VSIG10L Nonsynonymous SNV N3T 0.589 0.602 0.588 241 692 231 0.618 173 195 65 53 73 0.001 27527 chr7 5428431 5428431 G A rs545967660 TNRC18 Nonsynonymous SNV P342S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.025 27528 chr17 73493874 73493874 G C rs12949173 TMEM94 Synonymous SNV L1150L 0.121 0.115 0.071 76 142 44 0.195 21 7 2 0 10 12.44 27529 chr19 51850290 51850290 G A rs1130426 ETFB Nonsynonymous SNV T245M 0.578 0.565 0.561 213 679 217 0.546 165 183 65 49 58 Benign 32 27530 chr6 133789728 133789728 G A rs9493627 EYA4 Nonsynonymous SNV G223S 0.373 0.396 0.337 140 438 152 0.359 99 77 32 20 29 Benign/Likely benign 26 27531 chr17 67190118 67190119 AT - rs111599831 ABCA10 I453Lfs*2 0.008 0 0.003 1 9 0 0.003 1 1 0 0 0 27532 chr7 5434135 5434135 A G rs4724668 TNRC18 Synonymous SNV S93S 0.748 0.74 0.667 288 878 284 0.738 196 335 107 77 102 5.17 27533 chr17 48615329 48615329 G A rs2306001 LOC105371824 0.065 0.052 0.037 34 76 20 0.087 11 2 0 0 1 5.253 27534 chr7 5540769 5540769 A C rs6953642 FBXL18 Synonymous SNV T377T 0.934 0.945 0.946 359 1097 363 0.921 278 514 171 133 165 0.002 27535 chr19 51871195 51871195 G A rs3745403 CLDND2 Synonymous SNV C85C 0.374 0.372 0.347 133 439 143 0.341 102 70 29 18 23 12.32 27536 chr17 48615458 48615458 G T rs148637970 EPN3 Nonsynonymous SNV R194L 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 29.6 27537 chr17 56385930 56385930 G A rs139965787 TSPOAP1 Nonsynonymous SNV T1508M 0 0 0 1 0 0 0.003 0 0 0 0 0 17.87 27538 chr17 67212031 67212031 A T rs11077414 ABCA10 Stop gain Y261X 0.007 0.003 0 0 8 1 0 0 0 0 0 0 25.4 27539 chr19 51920613 51920613 C T rs1010425 SIGLEC10 Synonymous SNV Q48Q 0.888 0.867 0.874 337 1043 333 0.864 257 461 144 112 143 7.143 27540 chr6 135287533 135287533 A G rs13064 HBS1L Synonymous SNV F617F 0.315 0.305 0.333 109 370 117 0.279 98 64 11 15 19 9.368 27541 chr7 6036980 6036980 G C rs1805319 PMS2 Synonymous SNV S154S 0.836 0.828 0.833 307 981 318 0.787 245 407 132 101 121 Benign 7.819 27542 chr19 51984725 51984725 T A rs8106673 CEACAM18 Nonsynonymous SNV L160H 0.803 0.823 0.81 305 943 316 0.782 238 378 131 98 123 0.149 27543 chr6 136589448 136589448 C A rs78267720 BCLAF1 Nonsynonymous SNV R748L 0.157 0.159 0.112 68 184 61 0.174 33 0 0 0 0 24.7 27544 chr7 6505901 6505901 T C rs2230263 KDELR2 Synonymous SNV L135L 0.902 0.896 0.895 343 1059 344 0.879 263 476 157 117 153 9.787 27545 chr17 73512884 73512884 T G rs8079373 TSEN54 Nonsynonymous SNV H38Q 0.173 0.174 0.207 75 203 67 0.192 61 17 4 11 8 Benign 23 27546 chr17 72926682 72926682 G A rs141455683 OTOP2 Nonsynonymous SNV G318R 0.017 0.018 0.014 5 20 7 0.013 4 1 0 0 0 Benign 0.024 27547 chr19 51984738 51984738 C T rs61998206 CEACAM18 Synonymous SNV T164T 0.028 0.029 0.037 11 33 11 0.028 11 2 1 0 0 4.856 27548 chr7 6537821 6537821 G C rs6463568 GRID2IP Synonymous SNV L1146L 0.905 0.888 0.908 343 1063 341 0.879 267 480 156 120 153 11.42 27549 chr17 46669730 46669730 G T rs36049616 HOXB5 Synonymous SNV R217R 0.026 0.018 0.034 12 30 7 0.031 10 0 0 1 0 10.75 27550 chr17 6716242 6716242 G A rs3744395 TEKT1 Nonsynonymous SNV R254C 0.203 0.169 0.18 91 238 65 0.233 53 23 4 4 11 20.2 27551 chr19 52000624 52000624 T G rs3752135 SIGLEC12 Nonsynonymous SNV Y376S 0.875 0.849 0.837 345 1027 326 0.885 246 453 137 106 153 0.238 27552 chr7 6566322 6566322 T G rs2881723 GRID2IP Synonymous SNV A221A 0.88 0.888 0.867 341 1033 341 0.874 255 455 153 110 149 7.028 27553 chr17 73513289 73513289 C G rs6501818 TSEN54 Synonymous SNV R111R 0.176 0.185 0.218 76 207 71 0.195 64 17 4 11 8 Benign 11.35 27554 chr17 67257355 67257355 C T rs144376773 ABCA5 Nonsynonymous SNV G1159R 0.013 0.005 0.007 2 15 2 0.005 2 0 0 0 0 Likely benign 19.08 27555 chr7 6591009 6591009 C T rs11761490 GRID2IP Nonsynonymous SNV R20Q 0.101 0.112 0.119 35 119 43 0.09 35 5 3 4 2 19.83 27556 chr19 52000672 52000672 G A rs3829658 SIGLEC12 Nonsynonymous SNV T360M 0.662 0.609 0.633 260 777 234 0.667 186 258 70 55 86 6.571 27557 chr6 137026266 137026266 T G rs9321567 MAP3K5 Synonymous SNV I198I 0.39 0.359 0.071 137 458 138 0.351 21 156 48 9 45 10.68 27558 chr6 137113137 137113137 G A rs55666429 MAP3K5 Synonymous SNV S53S 0.576 0.57 0.517 207 676 219 0.531 152 193 63 40 58 6.329 27559 chr17 56429585 56429585 C G rs75924914 TSPOAP1-AS1 0.152 0.174 0.136 49 178 67 0.126 40 17 9 1 3 8.246 27560 chr7 6621277 6621277 G A rs11559146 ZDHHC4 Nonsynonymous SNV V53M 0.31 0.31 0.344 134 364 119 0.344 101 56 20 20 23 0.004 27561 chr19 52001485 52001485 G A rs11668530 SIGLEC12 Nonsynonymous SNV H280Y 0.517 0.495 0.497 205 607 190 0.526 146 153 44 32 51 13.82 27562 chr6 137323213 137323213 G A rs1342642 IL20RA Nonsynonymous SNV L271F 0.284 0.299 0.19 110 334 115 0.282 56 49 18 7 18 7.184 27563 chr17 6718608 6718608 T C TEKT1 Nonsynonymous SNV K168R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22 27564 chr19 52002729 52002729 G A rs2009362 SIGLEC12 Synonymous SNV G232G 0.627 0.589 0.599 239 736 226 0.613 176 230 65 50 74 7.367 27565 chr7 6639953 6639953 G A rs34300529 C7orf26 Synonymous SNV V358V 0.227 0.206 0.214 105 266 79 0.269 63 27 9 7 15 10.14 27566 chr19 52003331 52003331 G C rs6509544 SIGLEC12 Nonsynonymous SNV H99Q 0.876 0.852 0.847 344 1028 327 0.882 249 454 138 106 152 0.001 27567 chr7 6647738 6647738 T C rs4416743 C7orf26 Synonymous SNV H432H 0.807 0.799 0.728 333 948 307 0.854 214 412 136 96 148 0.02 27568 chr6 138608212 138608212 C T rs17568867 ARFGEF3 Synonymous SNV G929G 0.017 0.003 0.017 8 20 1 0.021 5 0 0 0 0 12.37 27569 chr7 6656830 6656830 G A rs2243563 ZNF853 Nonsynonymous SNV G8R 0.603 0.602 0.633 242 708 231 0.621 186 214 69 59 72 0.565 27570 chr19 52004743 52004743 G A rs3810110 SIGLEC12 Nonsynonymous SNV A82V 0.629 0.589 0.599 242 739 226 0.621 176 231 65 50 75 1.26 27571 chr6 138642258 138642258 C T rs17510658 ARFGEF3 Synonymous SNV Y1554Y 0.024 0.01 0.031 8 28 4 0.021 9 0 0 0 0 12.86 27572 chr7 6656897 6656897 A G rs1806552 ZNF853 Nonsynonymous SNV Q15R 0.607 0.604 0.636 243 713 232 0.623 187 219 70 60 73 0.776 27573 chr17 73566561 73566561 G A rs2305525 LLGL2 Synonymous SNV P669P 0.129 0.099 0.078 73 152 38 0.187 23 8 1 0 6 4.1 27574 chr19 52004791 52004791 - C rs368715137 SIGLEC12 Frameshift insertion A66Gfs*50 0.68 0.648 0.616 261 798 249 0.669 181 267 75 53 90 27575 chr17 73567846 73567846 C T rs1661715 LLGL2 Nonsynonymous SNV P759S 0.278 0.255 0.214 128 326 98 0.328 63 48 9 6 17 18.15 27576 chr6 138645228 138645228 G A rs3734301 ARFGEF3 Synonymous SNV A1646A 0.071 0.047 0.105 17 83 18 0.044 31 4 1 4 0 13.6 27577 chr7 6660790 6660790 G A rs940873 ZNF853 Synonymous SNV E41E 0.224 0.229 0.218 90 263 88 0.231 64 22 9 12 7 10.74 27578 chr19 52004795 52004795 G T rs61742108 SIGLEC12 Synonymous SNV R65R 0.63 0.589 0.599 242 740 226 0.621 176 232 65 50 75 3.126 27579 chr6 138725677 138725677 G A rs2274659 HEBP2 Synonymous SNV A15A 0.05 0.036 0.071 14 59 14 0.036 21 6 1 3 0 11.84 27580 chr7 6683454 6683454 A G rs2253869 ZNF316 Nonsynonymous SNV E156G 0.599 0.599 0.612 238 703 230 0.61 180 210 72 58 70 10.47 27581 chr19 52004903 52004903 G A rs16982743 SIGLEC12 Stop gain Q29X 0.212 0.227 0.221 88 249 87 0.226 65 33 13 8 10 24.4 27582 chr17 73568055 73568055 C T rs1661714 LLGL2 Synonymous SNV P790P 0.241 0.201 0.156 114 283 77 0.292 46 36 6 2 14 19.5 27583 chr7 6692605 6692605 T C rs1474419 ZNF316 Nonsynonymous SNV S460P 0.634 0.612 0.67 251 744 235 0.644 197 228 75 69 76 0.015 27584 chr6 139085450 139085450 C T rs4243458 GVQW2 0.005 0.005 0.007 4 6 2 0.01 2 3 1 1 2 0.813 27585 chr19 52033742 52033742 G A rs2305772 SIGLEC6 Nonsynonymous SNV P246S 0.57 0.552 0.548 229 669 212 0.587 161 185 57 44 63 2.419 27586 chr7 6693438 6693438 C T rs6979882 ZNF316 Synonymous SNV H737H 0.308 0.333 0.231 109 362 128 0.279 68 56 25 12 12 12.08 27587 chr17 73570718 73570718 C G rs1126939 LLGL2 Nonsynonymous SNV P994R 0.275 0.253 0.207 128 323 97 0.328 61 48 9 6 17 12.8 27588 chr6 139197609 139197609 G A rs1529151 ECT2L Nonsynonymous SNV E527K 0.25 0.25 0.265 92 293 96 0.236 78 40 13 11 11 not provided 9.343 27589 chr7 6693552 6693552 C T rs111851769 ZNF316 Synonymous SNV F775F 0.005 0.005 0.017 4 6 2 0.01 5 0 0 0 0 10.55 27590 chr7 6694210 6694210 C A rs2464876 ZNF316 Nonsynonymous SNV P995T 0.026 0.026 0.122 5 31 10 0.013 36 10 4 8 1 10.36 27591 chr19 52095980 52095980 G T rs3794984 LINC01530 0 0 0.051 0 0 0 0 15 0 0 0 0 12.33 27592 chr6 139223635 139223635 A T rs200545869 ECT2L 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 24.3 27593 chr7 7413149 7413149 T C rs61744841 COL28A1 Synonymous SNV P796P 0.025 0.031 0.082 10 29 12 0.026 24 1 0 2 0 0.006 27594 chr17 73586325 73586325 G A rs73998360 MYO15B 0.078 0.052 0 27 92 20 0.069 0 4 0 0 0 12.17 27595 chr17 4876503 4876503 C T rs149705832 CAMTA2 Synonymous SNV P751P 0.005 0.005 0.01 5 6 2 0.013 3 0 0 0 0 Benign 18.25 27596 chr7 7571094 7571094 G C rs7804532 COL28A1 Nonsynonymous SNV A189G 0.96 0.964 0.969 377 1127 370 0.967 285 540 179 138 182 2.01 27597 chr17 73625286 73625286 G A rs820190 RECQL5 Synonymous SNV S739S 0.342 0.32 0.299 118 401 123 0.303 88 63 25 14 19 5.174 27598 chr19 52096034 52096038 ATAAA - rs3838908 LINC01530 0 0 0.051 0 0 0 0 15 0 0 0 0 27599 chr19 52096053 52096053 T A rs3794983 LINC01530 0 0 0.051 0 0 0 0 15 0 0 0 0 34 27600 chr6 142396790 142396790 G T rs7453944 NMBR Nonsynonymous SNV L242M 0.069 0.055 0.034 22 81 21 0.056 10 2 0 0 0 24.6 27601 chr19 52096270 52096270 C G rs3794982 LINC01530 0 0 0.051 0 0 0 0 15 0 0 0 0 4.812 27602 chr7 7646651 7646651 G T rs7806046 MIOS Synonymous SNV S748S 0.98 0.979 0.983 381 1150 376 0.977 289 563 184 142 186 12.36 27603 chr19 52097401 52097401 T C rs35740364 LINC01530 0 0 0.231 0 0 0 0 68 0 0 11 0 0.088 27604 chr17 73627539 73627539 T C rs820196 RECQL5 Nonsynonymous SNV D480G 0.247 0.229 0.241 92 290 88 0.236 71 29 12 9 12 13.94 27605 chr7 7646687 7646687 A G rs4222 MIOS Synonymous SNV T760T 0.822 0.807 0.786 318 965 310 0.815 231 393 126 95 128 3.802 27606 chr19 52097461 52097461 A C rs7252645 LINC01530 0 0 0.051 0 0 0 0 15 0 0 0 0 7.273 27607 chr7 7712942 7712950 AGCAGCAGC - rs10527750 UMAD1 0.33 0.38 0.194 114 387 146 0.292 57 122 48 22 34 27608 chr7 8125964 8125964 C T rs929509 GLCCI1 Synonymous SNV S480S 0.739 0.716 0.68 273 868 275 0.7 200 318 103 68 94 10.67 27609 chr17 73127683 73127683 T C rs4788867 NT5C Synonymous SNV Q40Q 0.529 0.505 0.19 215 621 194 0.551 56 227 72 21 70 5.961 27610 chr17 6942108 6942108 C T rs11078663 SLC16A13 Synonymous SNV S327S 0.5 0.466 0.52 191 587 179 0.49 153 149 38 43 45 9.13 27611 chr17 48918326 48918326 G A rs142226356 WFIKKN2 Synonymous SNV E466E 0.025 0.016 0.02 6 29 6 0.015 6 0 0 0 0 1.557 27612 chr19 52097586 52097586 A G rs7252767 LINC01530 0 0 0.051 0 0 0 0 15 0 0 0 0 4.815 27613 chr7 11022230 11022230 A G rs218966 PHF14 Nonsynonymous SNV K115R 0.692 0.685 0.602 275 812 263 0.705 177 287 88 68 100 10.89 27614 chr17 73142764 73142764 G A rs62620707 JPT1 Nonsynonymous SNV H59Y 0.046 0.029 0.027 8 54 11 0.021 8 1 0 1 0 18.74 27615 chr17 7369035 7369035 C T rs139137598 ZBTB4 Synonymous SNV E362E 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 4.956 27616 chr19 5210782 5210782 G A rs1143698 PTPRS Synonymous SNV L1310L 0.223 0.237 0.245 86 262 91 0.221 72 24 8 12 7 9.464 27617 chr17 6943266 6943266 G A rs4796576 SLC16A13 Synonymous SNV G422G 0.578 0.544 0.599 224 679 209 0.574 176 192 54 55 61 0.172 27618 chr17 49338257 49338257 C T rs14180 UTP18 Synonymous SNV D104D 0.074 0.07 0.095 20 87 27 0.051 28 4 1 1 3 17.66 27619 chr19 5212380 5212380 C T rs1064300 PTPRS Synonymous SNV P1132P 0.327 0.344 0.303 122 384 132 0.313 89 71 23 12 14 15.32 27620 chr7 11022560 11022560 C G rs61753124 PHF14 Nonsynonymous SNV S225C 0.027 0.042 0.027 12 32 16 0.031 8 0 0 0 0 23.1 27621 chr19 5212482 5212482 G A rs2230611 PTPRS Synonymous SNV R1098R 0.101 0.109 0.102 38 118 42 0.097 30 5 1 0 2 12.76 27622 chr17 4936336 4936336 A T rs72822610 SLC52A1 Synonymous SNV L421L 0.123 0.128 0.116 41 144 49 0.105 34 13 5 2 1 0.007 27623 chr19 52130830 52130830 C A rs8107754 SIGLEC5 Synonymous SNV G389G 0.521 0.5 0.483 197 612 192 0.505 142 153 52 33 52 12.9 27624 chr7 11022564 11022564 G A rs218965 PHF14 Synonymous SNV A226A 0.695 0.693 0.68 275 816 266 0.705 200 285 88 69 100 10.56 27625 chr6 143081035 143081035 A G rs9496457 HIVEP2 Synonymous SNV S2130S 0.186 0.214 0.184 68 218 82 0.174 54 26 8 5 7 2.959 27626 chr19 52131310 52131310 C T rs61736486 SIGLEC5 Synonymous SNV P258P 0.073 0.078 0.078 26 86 30 0.067 23 0 1 0 1 9.787 27627 chr19 52146869 52146869 C T rs138832022 SIGLEC14 Nonsynonymous SNV V357I 0.031 0.026 0.041 10 36 10 0.026 12 5 2 0 1 11.54 27628 chr7 11581121 11581121 T C rs47 THSD7A Nonsynonymous SNV N583D 0.796 0.805 0.748 310 935 309 0.795 220 375 124 84 120 16.51 27629 chr19 5214697 5214697 A G rs4807697 PTPRS Nonsynonymous SNV C1010R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.426 27630 chr7 11676071 11676071 C T rs186655877 THSD7A Synonymous SNV T236T 0.014 0.01 0.014 6 16 4 0.015 4 0 0 0 0 Benign 11.03 27631 chr17 4937274 4937274 G A rs144716094 SLC52A1 Synonymous SNV L170L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 2.653 27632 chr7 11676377 11676377 G A rs2074598 THSD7A Synonymous SNV P134P 0.279 0.31 0.31 115 327 119 0.295 91 51 18 17 22 10.66 27633 chr19 52220351 52220351 G A rs11084111 HAS1 Synonymous SNV D265D 0.092 0.078 0.071 26 108 30 0.067 21 12 2 3 1 12.51 27634 chr19 52222552 52222552 G A rs11084112 HAS1 Synonymous SNV R202R 0.353 0.38 0.374 142 414 146 0.364 110 64 31 18 26 9.002 27635 chr7 12269417 12269417 C G rs3173615 TMEM106B Nonsynonymous SNV T185S 0.425 0.445 0.418 157 499 171 0.403 123 106 38 32 32 21.4 27636 chr19 52223121 52223121 A G rs7248778 HAS1 Nonsynonymous SNV C13R 0.664 0.703 0.639 270 780 270 0.692 188 256 97 61 94 0.608 27637 chr17 47210166 47210166 C A rs146443714 B4GALNT2 Synonymous SNV G4G 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 15.42 27638 chr7 12376811 12376811 A C rs2192828 VWDE Nonsynonymous SNV F1370C 0.619 0.573 0.639 235 727 220 0.603 188 239 66 59 68 18.57 27639 chr19 52249211 52249211 T G rs867228 FPR1 Nonsynonymous SNV E346A 0.79 0.799 0.789 311 927 307 0.797 232 373 119 88 122 Benign 13.86 27640 chr17 71197439 71197439 C T rs1551036 COG1 Synonymous SNV S491S 0.16 0.169 0.184 61 188 65 0.156 54 24 6 5 5 Benign 13.22 27641 chr19 52249672 52249672 A C rs1042229 FPR1 Nonsynonymous SNV N192K 0.389 0.393 0.371 143 457 151 0.367 109 91 26 19 26 Benign 0.002 27642 chr7 12391319 12391319 G T rs6967385 VWDE Nonsynonymous SNV Q1141K 0.471 0.453 0.469 178 553 174 0.456 138 146 50 31 42 0.003 27643 chr6 146234644 146234644 G A rs9497426 SHPRH Synonymous SNV C1432C 0.665 0.669 0.755 245 781 257 0.628 222 326 110 86 97 10.36 27644 chr17 7099811 7099811 G A rs17203281 DLG4 Synonymous SNV I329I 0.348 0.284 0.364 122 409 109 0.313 107 61 22 21 16 16.79 27645 chr19 52250216 52250216 A G rs5030878 FPR1 Nonsynonymous SNV I11T 0.744 0.753 0.724 299 874 289 0.767 213 320 109 73 110 Benign 0.001 27646 chr7 12395813 12395813 T C rs2119141 VWDE Synonymous SNV Q1108Q 0.751 0.792 0.752 294 882 304 0.754 221 337 116 83 111 0.016 27647 chr19 52395150 52395150 T C rs150082546 ZNF649 Nonsynonymous SNV E80G 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 9.875 27648 chr7 12400837 12400837 G A rs2053380 VWDE Nonsynonymous SNV T917M 0.678 0.659 0.585 274 796 253 0.703 172 281 87 63 99 15.45 27649 chr17 59667953 59667953 G A rs17610181 NACA2 Stop gain R197X 0.204 0.24 0.18 75 240 92 0.192 53 28 10 4 9 37 27650 chr19 52505463 52505463 C T rs151263298 ZNF615 Synonymous SNV Q34Q 0.048 0.036 0.058 14 56 14 0.036 17 0 1 0 0 12.38 27651 chr7 12410112 12410112 G A rs963323 VWDE Nonsynonymous SNV S492F 0.772 0.794 0.745 312 906 305 0.8 219 349 122 81 124 8.758 27652 chr19 52659991 52659991 A G rs1821278 ZNF836 Synonymous SNV Y315Y 0.297 0.302 0.296 120 349 116 0.308 87 49 14 14 19 0.021 27653 chr17 7121105 7121105 C A rs72839706 ACADVL Synonymous SNV G33G 0.027 0.026 0.031 15 32 10 0.038 9 0 0 0 1 17.76 27654 chr17 59668021 59668021 G C rs61739273 NACA2 Nonsynonymous SNV T174R 0.204 0.24 0.18 74 240 92 0.19 53 28 10 4 9 24.4 27655 chr19 52660279 52660279 C T rs1366245 ZNF836 Nonsynonymous SNV M219I 0.297 0.294 0.296 120 349 113 0.308 87 49 14 14 19 7.709 27656 chr17 71197323 71197323 G C rs62621249 COG1 Nonsynonymous SNV E453Q 0.095 0.096 0.088 37 112 37 0.095 26 3 3 1 0 Benign 22.2 27657 chr17 73926121 73926121 C A rs1135889 FBF1 Nonsynonymous SNV G79V 0.184 0.185 0.085 68 216 71 0.174 25 36 11 8 9 19.96 27658 chr7 12417407 12417407 C T rs7793993 VWDE Nonsynonymous SNV G340D 0.648 0.628 0.602 261 761 241 0.669 177 258 80 57 93 12.59 27659 chr17 59668352 59668352 C T rs17531723 NACA2 Nonsynonymous SNV V64I 0.199 0.237 0.177 76 234 91 0.195 52 27 10 3 9 16.56 27660 chr19 52660783 52660783 A G rs17696575 ZNF836 Synonymous SNV P51P 0.215 0.216 0.177 96 252 83 0.246 52 25 5 8 12 0.17 27661 chr19 52714719 52714719 C T rs11537695 PPP2R1A Synonymous SNV S159S 0.045 0.049 0.048 17 53 19 0.044 14 0 0 1 1 13.61 27662 chr7 12419108 12419108 A T rs6967241 VWDE Nonsynonymous SNV F292I 0.623 0.617 0.599 255 731 237 0.654 176 235 79 46 87 13.31 27663 chr6 147067093 147067093 C T rs9647637 ADGB Synonymous SNV G1071G 0.295 0.307 0.276 116 346 118 0.297 81 46 18 11 16 13.41 27664 chr19 52725338 52725338 T C rs10412196 MIR6801 0.132 0.122 0.143 43 155 47 0.11 42 6 3 4 4 8.5 27665 chr17 71232990 71232990 C A rs61729639 C17orf80 Nonsynonymous SNV R457S 0.029 0.031 0.044 22 34 12 0.056 13 2 0 0 0 10.71 27666 chr19 52803670 52803671 TG - rs3217319 ZNF480 Stop gain C3* 0.696 0.69 0.718 255 817 265 0.654 211 281 93 78 87 27667 chr7 12428803 12428803 G A rs848016 VWDE Nonsynonymous SNV S142F 0.595 0.542 0.626 222 699 208 0.569 184 215 53 52 68 1.115 27668 chr19 52825235 52825235 A G rs8102373 ZNF480 Synonymous SNV S201S 0.575 0.549 0.517 206 675 211 0.528 152 189 59 37 57 0.027 27669 chr19 52856955 52856955 C T rs1961205 ZNF610 Synonymous SNV D28D 0.367 0.375 0.391 145 431 144 0.372 115 83 24 23 28 10.39 27670 chr7 12610594 12610594 A G rs2240572 SCIN Nonsynonymous SNV H61R 0.385 0.323 0.408 145 452 124 0.372 120 109 33 18 27 22 27671 chr19 52869022 52869022 G T rs2241586 ZNF610 Nonsynonymous SNV A88S 0.9 0.904 0.857 340 1057 347 0.872 252 474 156 110 145 0.001 27672 chr17 74014628 74014628 G A rs2071193 EVPL Synonymous SNV H446H 0.342 0.346 0.221 156 402 133 0.4 65 71 24 14 34 5.806 27673 chr17 5264916 5264916 C T rs34594998 RABEP1 Synonymous SNV S460S 0.06 0.117 0.099 38 71 45 0.097 29 5 2 2 1 12.26 27674 chr17 5984001 5984001 T C rs199969111 WSCD1 Nonsynonymous SNV L8P 0.01 0.01 0.017 2 12 4 0.005 5 0 0 0 0 22.4 27675 chr19 52869278 52869278 G C rs321937 ZNF610 Nonsynonymous SNV R173P 0.9 0.904 0.864 339 1057 347 0.869 254 474 156 111 144 8.431 27676 chr7 12617777 12617777 T A rs369821420 SCIN Nonsynonymous SNV N96K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 15.79 27677 chr6 148664242 148664242 - GAGCCC rs569482367 SASH1 P23_A24insEP 0.157 0.151 0.16 79 184 58 0.203 47 15 6 2 2 27678 chr19 52869312 52869312 T C rs162120 ZNF610 Synonymous SNV T184T 0.899 0.904 0.881 337 1056 347 0.864 259 473 156 113 143 0.477 27679 chr17 71380062 71380062 G A rs35467001 SDK2 Nonsynonymous SNV T1553M 0.073 0.073 0.068 27 86 28 0.069 20 5 1 0 0 25.5 27680 chr17 5289554 5289554 T C rs61753103 NUP88 Nonsynonymous SNV N749S 0.006 0.005 0.017 2 7 2 0.005 5 0 0 0 0 25.3 27681 chr7 12620804 12620804 C T rs17283717 SCIN Synonymous SNV D158D 0.388 0.349 0.357 140 456 134 0.359 105 85 31 14 23 14.46 27682 chr19 52869534 52869534 G A rs162119 ZNF610 Synonymous SNV S258S 0.892 0.896 0.878 339 1047 344 0.869 258 464 153 113 144 10.36 27683 chr7 13978809 13978809 T C rs9639168 ETV1 Nonsynonymous SNV S42G 0.351 0.375 0.412 135 412 144 0.346 121 80 27 25 28 12.23 27684 chr19 52887146 52887146 A - rs34470614 ZNF880 N106Ifs*5 0.453 0.477 0.435 161 532 183 0.413 128 124 43 28 30 27685 chr19 52887427 52887427 A C rs8104808 ZNF880 Nonsynonymous SNV R198S 0.455 0.477 0.415 163 534 183 0.418 122 124 43 28 32 0.02 27686 chr17 6023844 6023844 C T WSCD1 Nonsynonymous SNV R531C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 34 27687 chr7 14025766 14025766 T A rs10215655 ETV1 Synonymous SNV P12P 0.454 0.469 0.493 184 533 180 0.472 145 129 37 36 47 16.06 27688 chr19 52887437 52887437 A C rs8104812 ZNF880 Nonsynonymous SNV N202H 0.455 0.477 0.418 163 534 183 0.418 123 124 43 28 32 0.001 27689 chr17 71384010 71384010 G A rs35928335 SDK2 Synonymous SNV S1453S 0.067 0.065 0.065 27 79 25 0.069 19 5 1 0 1 10.91 27690 chr7 15725798 15725800 TGG - rs113582077 MEOX2 H80del 0.577 0.607 0.561 226 677 233 0.579 165 197 64 46 56 27691 chr7 16640454 16640454 G A rs35504966 ANKMY2 Nonsynonymous SNV L420F 0.02 0.01 0.01 21 23 4 0.054 3 0 0 0 1 12.85 27692 chr19 52887904 52887904 T C rs2042913 ZNF880 Synonymous SNV C357C 0.456 0.477 0.452 162 535 183 0.415 133 124 43 28 31 0.269 27693 chr17 71389826 71389826 C T rs34322745 SDK2 Synonymous SNV S1257S 0.063 0.065 0.068 25 74 25 0.064 20 5 1 0 0 19.11 27694 chr17 74077797 74077797 C T rs1043149 ZACN Stop gain Q281X 0.191 0.221 0.167 81 224 85 0.208 49 21 10 5 8 37 27695 chr19 52888210 52888210 T C rs56151179 ZNF880 Synonymous SNV T459T 0.455 0.477 0.449 163 534 183 0.418 132 124 43 28 32 8.226 27696 chr7 16666741 16666741 T G rs11532682 ANKMY2 Synonymous SNV L65L 0.202 0.185 0.197 74 237 71 0.19 58 27 5 6 11 7.461 27697 chr19 52888245 52888245 A G rs55748277 ZNF880 Nonsynonymous SNV K471R 0.454 0.477 0.452 162 533 183 0.415 133 124 43 28 32 23 27698 chr17 71410891 71410891 C T rs12386051 SDK2 Synonymous SNV T792T 0.254 0.216 0.248 104 298 83 0.267 73 46 10 15 14 15.28 27699 chr6 150039091 150039091 G A rs13210297 LOC645967 0.075 0.107 0.061 39 88 41 0.1 18 3 2 0 0 6.194 27700 chr17 7412403 7412403 T C rs2228133 POLR2A Synonymous SNV F1202F 0.07 0.07 0.105 19 82 27 0.049 31 3 2 3 0 4.903 27701 chr7 16666759 16666759 G C rs11531477 ANKMY2 Synonymous SNV L59L 0.198 0.182 0.197 73 233 70 0.187 58 27 5 6 11 10.27 27702 chr17 71443848 71443848 C T rs4789623 SDK2 Synonymous SNV T173T 0.02 0.026 0.017 13 23 10 0.033 5 0 0 1 0 16.58 27703 chr19 52919433 52919433 G C rs61978639 ZNF528 Nonsynonymous SNV G443A 0.03 0.031 0.031 14 35 12 0.036 9 0 0 0 0 23.6 27704 chr7 16816000 16816000 T C rs2290837 TSPAN13 Synonymous SNV F76F 0.388 0.393 0.459 168 455 151 0.431 135 80 26 29 30 7.821 27705 chr7 16823095 16823095 G A rs11491 TSPAN13 Synonymous SNV A198A 0.56 0.552 0.619 214 658 212 0.549 182 185 64 63 60 12.86 27706 chr19 52934741 52934741 A C rs118147154 ZNF534 Nonsynonymous SNV Q5P 0.027 0.023 0.027 13 32 9 0.033 8 0 0 0 0 7.568 27707 chr7 16834597 16834597 A G rs6842 AGR2 Synonymous SNV N147N 0.529 0.513 0.524 201 621 197 0.515 154 163 50 45 48 8.225 27708 chr7 17854532 17854532 G T rs2723501 SNX13 Synonymous SNV P674P 0.62 0.583 0.599 246 728 224 0.631 176 240 66 53 80 10.33 27709 chr19 52938361 52938361 C A rs11084161 ZNF534 Nonsynonymous SNV T29N 0.936 0.911 0.939 360 1099 350 0.923 276 515 160 129 167 0.023 27710 chr7 18993870 18993870 C T rs2389998 HDAC9 Synonymous SNV F1010F 0.601 0.596 0.66 266 706 229 0.682 194 308 101 72 112 Benign 8.245 27711 chr17 74277983 74277983 C T rs147155048 QRICH2 Nonsynonymous SNV V1243I 0.009 0.016 0.007 4 11 6 0.01 2 0 0 0 0 8.951 27712 chr19 52938417 52938417 A G rs11084162 ZNF534 Nonsynonymous SNV I48V 0.937 0.911 0.939 360 1100 350 0.923 276 516 160 129 167 0.001 27713 chr7 20180717 20180717 C G rs3735615 MACC1 Nonsynonymous SNV R804T 0.597 0.565 0.568 243 701 217 0.623 167 217 57 50 75 26.9 27714 chr19 52938459 52938459 A G rs11084163 ZNF534 Nonsynonymous SNV T62A 0.938 0.914 0.939 362 1101 351 0.928 276 517 161 129 169 0.001 27715 chr17 74286082 74286082 C T rs4789273 QRICH2 Synonymous SNV E1097E 0.245 0.299 0.272 119 288 115 0.305 80 42 22 10 20 15.23 27716 chr7 20198440 20198440 G A rs975263 MACC1 Nonsynonymous SNV S515L 0.271 0.227 0.296 115 318 87 0.295 87 35 9 13 22 10.56 27717 chr17 74286106 74286106 C T rs4789274 QRICH2 Synonymous SNV T1089T 0.256 0.302 0.272 122 301 116 0.313 80 42 22 10 20 8.25 27718 chr17 61483527 61483527 T C rs61737624 TANC2 Synonymous SNV L1086L 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 5.735 27719 chr17 71747473 71747473 A G rs12949528 LOC100134391 0.066 0.06 0.075 25 77 23 0.064 22 4 2 0 3 3.508 27720 chr19 52941171 52941171 T C rs1428180 ZNF534 Nonsynonymous SNV F125S 0.953 0.922 0.952 364 1119 354 0.933 280 533 164 133 169 0.015 27721 chr17 61498560 61498560 C T rs77003065 TANC2 Synonymous SNV S1739S 0.03 0.021 0.054 7 35 8 0.018 16 2 0 0 0 7.276 27722 chr17 74287204 74287204 C G rs2279052 QRICH2 Nonsynonymous SNV E1036Q 0.267 0.315 0.272 125 313 121 0.321 80 41 22 9 20 24.5 27723 chr17 54450174 54450174 C T rs143082022 ANKFN1 Nonsynonymous SNV R260C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 35 27724 chr7 20201395 20201395 G C rs4721888 MACC1 Nonsynonymous SNV L31V 0.098 0.081 0.099 45 115 31 0.115 29 3 1 1 5 0.001 27725 chr17 71752635 71752635 A C rs35418751 LOC100134391 0.102 0.102 0 40 120 39 0.103 0 7 2 0 6 6.305 27726 chr19 52941540 52941540 G A rs1366257 ZNF534 Nonsynonymous SNV G248E 0.953 0.922 0.952 363 1119 354 0.931 280 533 164 133 168 12.28 27727 chr17 61557200 61557200 C T rs4298 ACE Synonymous SNV N194N 0.1 0.068 0.122 30 117 26 0.077 36 7 3 1 3 Benign 11.14 27728 chr17 73732428 73732428 G A rs2290460 ITGB4 Synonymous SNV S607S 0.02 0.013 0.024 7 24 5 0.018 7 0 0 0 1 Benign 14.83 27729 chr17 74287389 74287389 T C rs2279053 QRICH2 Nonsynonymous SNV H974R 0.27 0.315 0.276 125 317 121 0.321 81 42 22 10 20 0.001 27730 chr19 52941618 52941618 A C rs1366258 ZNF534 Nonsynonymous SNV E274A 0.953 0.922 0.952 364 1119 354 0.933 280 533 164 133 169 20.8 27731 chr7 20418678 20418678 C T rs3735619 ITGB8 Synonymous SNV A131A 0.084 0.104 0.082 34 99 40 0.087 24 1 2 1 1 16.78 27732 chr17 74287594 74287594 G A rs2279054 QRICH2 Nonsynonymous SNV H906Y 0.261 0.307 0.269 119 306 118 0.305 79 39 21 9 18 12.87 27733 chr7 20421490 20421490 T C rs2230398 ITGB8 Synonymous SNV Y314Y 0.441 0.409 0.408 160 518 157 0.41 120 121 29 25 34 0.603 27734 chr19 52941847 52941847 A T rs1366259 ZNF534 Synonymous SNV G350G 0.953 0.922 0.952 364 1119 354 0.933 280 533 164 133 169 5.011 27735 chr7 20762646 20762646 G T rs62453384 ABCB5 Nonsynonymous SNV G365V 0.405 0.344 0.306 163 475 132 0.418 90 92 22 16 32 28.8 27736 chr19 52942159 52942159 A G rs2608497 ZNF534 Synonymous SNV Q454Q 0.941 0.914 0.949 361 1105 351 0.926 279 521 161 132 168 0.164 27737 chr17 74288393 74288422 ACCAGGTTGCACCAAACCACGCTGAACTAT - rs758349471 QRICH2 I630_G639del 0.269 0.299 0.248 125 316 115 0.321 73 42 20 8 20 27738 chr19 52942445 52942445 C T rs2608498 ZNF534 Nonsynonymous SNV H550Y 0.942 0.914 0.949 361 1106 351 0.926 279 522 161 132 168 0.007 27739 chr17 74288565 74288567 TGA - rs34007000 QRICH2 H581del 0.271 0.315 0.272 125 318 121 0.321 80 42 22 10 20 27740 chr7 20778646 20778646 G A rs6461515 ABCB5 Nonsynonymous SNV E525K 0.848 0.857 0.779 317 995 329 0.813 229 422 138 92 128 22.6 27741 chr6 150212003 150212003 C T rs9383583 RAET1E Nonsynonymous SNV R12H 0.156 0.151 0.133 71 183 58 0.182 39 12 7 3 8 0.008 27742 chr19 52942495 52942495 G A rs2561001 ZNF534 Synonymous SNV A566A 0.942 0.914 0.949 360 1106 351 0.923 279 522 161 132 167 4.857 27743 chr17 74289500 74289500 G A rs3803737 QRICH2 Synonymous SNV V270V 0.27 0.315 0.279 125 317 121 0.321 82 42 22 10 20 9.998 27744 chr19 52954507 52954507 T C rs324104 ZNF534 Synonymous SNV A70A 0.94 0.914 0.942 360 1103 351 0.923 277 520 161 131 167 0.015 27745 chr7 20824941 20824943 GCC - rs372591893 SP8 G165del 0.234 0.201 0.156 88 275 77 0.226 46 38 8 6 7 27746 chr17 74289705 74289705 A G rs6501880 QRICH2 Nonsynonymous SNV L202S 0.27 0.315 0.276 125 317 121 0.321 81 42 22 10 20 0.057 27747 chr19 53077411 53077411 T C rs162832 ZNF701 Nonsynonymous SNV L4P 0.713 0.742 0.755 266 837 285 0.682 222 296 108 84 89 0.002 27748 chr7 21582963 21582963 G T rs2285943 DNAH11 Stop gain E34X 0.497 0.487 0.493 199 584 187 0.51 145 142 45 34 44 Benign 35 27749 chr17 74289839 74289839 G A rs6501881 QRICH2 Synonymous SNV G157G 0.271 0.315 0.276 125 318 121 0.321 81 42 22 10 20 10.68 27750 chr19 53085659 53085659 C T rs366793 ZNF701 Nonsynonymous SNV T116I 0.713 0.734 0.738 262 837 282 0.672 217 296 106 79 87 0.234 27751 chr7 21582964 21582964 A T rs2285944 DNAH11 Nonsynonymous SNV E34V 0.497 0.487 0.493 199 584 187 0.51 145 142 45 34 44 Benign 19.34 27752 chr6 151055031 151055031 C T rs80178830 PLEKHG1 Nonsynonymous SNV P131S 0.007 0.016 0.003 3 8 6 0.008 1 0 0 0 0 8.827 27753 chr17 74289875 74289875 C T rs6501882 QRICH2 Synonymous SNV G145G 0.271 0.315 0.276 125 318 121 0.321 81 42 22 10 20 7.648 27754 chr17 61829442 61829442 C G CCDC47 Nonsynonymous SNV R410P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 27755 chr7 21599233 21599233 C T rs10950854 DNAH11 Synonymous SNV N235N 0.353 0.385 0.401 164 415 148 0.421 118 82 30 22 32 Benign 15.1 27756 chr19 53085813 53085813 T C rs3745101 ZNF701 Synonymous SNV A167A 0.396 0.38 0.405 143 465 146 0.367 119 93 26 20 22 0.642 27757 chr17 74289908 74289908 A G rs6501883 QRICH2 Synonymous SNV S134S 0.27 0.315 0.276 125 317 121 0.321 81 42 22 10 20 0.424 27758 chr17 73874012 73874012 T G rs3903010 TRIM47 Synonymous SNV A206A 0.151 0.159 0.156 65 177 61 0.167 46 19 8 6 3 17.35 27759 chr6 151140864 151140864 C T rs150554027 PLEKHG1 Synonymous SNV F415F 0.006 0.016 0.003 3 7 6 0.008 1 0 0 0 0 13.03 27760 chr19 53086124 53086124 C A rs373554 ZNF701 Nonsynonymous SNV T271K 0.713 0.734 0.741 263 837 282 0.674 218 296 106 79 88 0.09 27761 chr17 72249229 72249229 C A rs9899862 TTYH2 Nonsynonymous SNV D102E 0.262 0.271 0.259 98 308 104 0.251 76 34 17 11 15 18.06 27762 chr7 21628197 21628197 A G rs12670130 DNAH11 Nonsynonymous SNV Q639R 0.168 0.193 0.177 78 197 74 0.2 52 12 9 2 7 Benign/Likely benign 0.036 27763 chr17 74290097 74290097 T A rs7225131 QRICH2 Synonymous SNV S71S 0.268 0.315 0.276 125 315 121 0.321 81 42 22 10 20 0.219 27764 chr17 73874071 73874071 G A rs4600514 TRIM47 Nonsynonymous SNV R187W 0.152 0.159 0.143 61 179 61 0.156 42 19 8 6 3 34 27765 chr6 151152059 151152059 G A rs2073065 PLEKHG1 Synonymous SNV R565R 0.089 0.099 0.116 53 105 38 0.136 34 3 2 1 2 10.32 27766 chr17 74307737 74307737 T C rs10459 PRPSAP1 Synonymous SNV Q245Q 0.193 0.18 0.153 85 226 69 0.218 45 25 10 4 8 2.955 27767 chr19 53086598 53086598 G A rs3745102 ZNF701 Nonsynonymous SNV R429H 0.396 0.38 0.35 143 465 146 0.367 103 93 26 19 22 0.651 27768 chr7 21628237 21628237 C T rs6963535 DNAH11 Synonymous SNV F652F 0.975 0.982 0.973 379 1145 377 0.972 286 558 185 139 184 Benign 11.89 27769 chr17 73874138 73874138 G C rs4072479 TRIM47 Synonymous SNV A164A 0.132 0.151 0.082 55 155 58 0.141 24 19 8 5 3 13.91 27770 chr17 55182878 55182878 C T rs17761023 AKAP1 Nonsynonymous SNV A18V 0.101 0.094 0.078 41 118 36 0.105 23 4 3 1 1 23.5 27771 chr7 21628242 21628242 C G rs62441683 DNAH11 Nonsynonymous SNV S654C 0.166 0.19 0.17 78 195 73 0.2 50 11 9 2 7 Benign/Likely benign 21.5 27772 chr19 53117531 53117531 C T rs1056185 ZNF83 Nonsynonymous SNV S96N 0.556 0.594 0.578 218 653 228 0.559 170 183 69 50 63 0.001 27773 chr17 72436560 72436560 C T rs148628712 GPRC5C Synonymous SNV Y215Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 4.826 27774 chr6 151161018 151161018 A G rs17348890 PLEKHG1 Synonymous SNV R1009R 0.087 0.094 0.119 53 102 36 0.136 35 4 2 2 2 0.465 27775 chr19 53117809 53117809 C A rs10406458 ZNF83 Synonymous SNV G3G 0.555 0.594 0.582 217 652 228 0.556 171 182 69 50 62 10.01 27776 chr7 21630982 21630982 A G rs4615458 DNAH11 Synonymous SNV A818A 0.357 0.37 0.364 163 419 142 0.418 107 77 23 21 33 Benign 0.633 27777 chr17 73888354 73888354 G A rs34974290 TRIM65 Synonymous SNV F246F 0.213 0.211 0.228 88 250 81 0.226 67 31 8 11 6 7.892 27778 chr17 55183792 55183792 G A rs35359994 AKAP1 Nonsynonymous SNV G323S 0.101 0.091 0.078 40 118 35 0.103 23 4 3 1 1 Benign 9.388 27779 chr17 72342637 72342637 G C KIF19 Nonsynonymous SNV D300H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 27780 chr19 53344118 53344118 C G rs10419826 ZNF468 Nonsynonymous SNV G477R 0.405 0.378 0.446 145 475 145 0.372 131 113 31 28 34 5.103 27781 chr7 21640361 21640361 T C rs10269582 DNAH11 Nonsynonymous SNV V1023A 0.428 0.44 0.412 143 503 169 0.367 121 108 35 24 21 Benign/Likely benign 0.082 27782 chr17 72306254 72306254 G T rs368217836 DNAI2 Synonymous SNV S470S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 5.695 27783 chr19 53344701 53344701 A G rs10420793 ZNF468 Synonymous SNV H282H 0.33 0.292 0.354 113 388 112 0.29 104 68 17 19 24 0.576 27784 chr17 55183813 55183813 A G rs34535433 AKAP1 Nonsynonymous SNV S330G 0.101 0.094 0.078 41 118 36 0.105 23 4 3 1 1 Benign 0.053 27785 chr7 21640405 21640405 A G rs10224537 DNAH11 Nonsynonymous SNV T1038A 0.764 0.771 0.779 302 897 296 0.774 229 333 114 87 120 Benign 0.796 27786 chr17 74570559 74570559 C T rs17513606 ST6GALNAC2 Synonymous SNV L83L 0.031 0.029 0.034 21 36 11 0.054 10 0 0 0 2 10.53 27787 chr19 53344919 53344919 T G rs58239286 ZNF468 Nonsynonymous SNV M210L 0.23 0.195 0.255 73 270 75 0.187 75 37 5 7 7 0.795 27788 chr17 72541052 72541052 C T rs2292107 CD300C Synonymous SNV A32A 0.112 0.135 0.153 47 132 52 0.121 45 10 4 2 1 6.803 27789 chr6 151670726 151670726 G A rs9478197 AKAP12 Synonymous SNV A295A 0.017 0.01 0.007 4 20 4 0.01 2 0 1 0 0 12.24 27790 chr17 55478748 55478748 A G rs61762987 MSI2 Synonymous SNV T103T 0.025 0.023 0.031 15 29 9 0.038 9 0 0 0 0 8.173 27791 chr19 53367392 53367392 A G rs1966574 ZNF320 Nonsynonymous SNV C82R 0.5 0.469 0.446 186 587 180 0.477 131 146 41 28 46 7.418 27792 chr7 21641218 21641218 G A rs3827657 DNAH11 Synonymous SNV Q1210Q 0.743 0.758 0.752 299 872 291 0.767 221 313 110 81 118 Benign 5.572 27793 chr19 53384185 53384185 C T rs6509701 ZNF320 Synonymous SNV A398A 0.681 0.703 0.65 270 799 270 0.692 191 272 95 60 94 14.56 27794 chr17 62028920 62028920 C G rs41280102 SCN4A Nonsynonymous SNV S906T 0.011 0.034 0.017 2 13 13 0.005 5 0 0 0 0 Benign/Likely benign 7.543 27795 chr6 151673413 151673413 G T rs9478198 AKAP12 Nonsynonymous SNV R1191L 0.013 0.01 0.003 3 15 4 0.008 1 0 1 0 0 16.82 27796 chr19 53409976 53409976 T C rs55809029 ZNF888 Synonymous SNV Q533Q 0.343 0.336 0.245 127 403 129 0.326 72 65 22 10 19 3.181 27797 chr7 21659645 21659645 T C rs56029521 DNAH11 Synonymous SNV I1483I 0.337 0.344 0.388 159 396 132 0.408 114 71 23 22 32 Benign 0.454 27798 chr19 53418555 53418555 A G rs13345639 ZNF888 Synonymous SNV D12D 0.218 0.229 0.224 93 256 88 0.238 66 0 0 0 0 1.411 27799 chr19 53454475 53454475 - ACT rs33949217 ZNF816 I184_G185insS 0.446 0.438 0.517 193 524 168 0.495 152 127 37 39 38 27800 chr7 21765452 21765452 C T rs12536928 DNAH11 Synonymous SNV F2430F 0.47 0.445 0.48 183 552 171 0.469 141 130 40 35 44 Benign 13.34 27801 chr19 53553686 53553686 G A rs12975552 ERVV-2 Synonymous SNV E394E 0.448 0.417 0.449 166 526 160 0.426 132 129 32 34 36 0.123 27802 chr17 56056550 56056550 C G rs1135655 VEZF1 Synonymous SNV L367L 0.11 0.107 0.119 48 129 41 0.123 35 11 2 3 3 11.77 27803 chr7 21775443 21775443 G A rs2072221 DNAH11 Synonymous SNV T2542T 0.808 0.779 0.816 312 949 299 0.8 240 381 115 97 122 Benign 11.54 27804 chr19 53577419 53577419 G C rs8105668 ZNF160 Nonsynonymous SNV P82R 0.75 0.768 0.738 313 880 295 0.803 217 333 113 87 125 0.031 27805 chr7 21778449 21778449 C T rs1109806 DNAH11 Synonymous SNV H2592H 0.694 0.651 0.684 267 815 250 0.685 201 296 84 68 89 Benign 10.31 27806 chr17 56386289 56386289 C T rs145131712 TSPOAP1 Synonymous SNV E1388E 0.016 0.029 0.014 4 19 11 0.01 4 0 0 0 0 11.07 27807 chr7 21779278 21779278 A G rs9639393 DNAH11 Nonsynonymous SNV N2634S 0.605 0.563 0.578 228 710 216 0.585 170 216 60 44 68 Benign 9.928 27808 chr19 53612055 53612055 T C rs10410030 ZNF415 Nonsynonymous SNV N185D 0.219 0.185 0.207 71 257 71 0.182 61 26 9 4 6 0.17 27809 chr19 53612311 53612311 T C rs4803051 ZNF415 Synonymous SNV T99T 0.477 0.516 0.469 198 560 198 0.508 138 139 53 29 48 0.872 27810 chr7 21824122 21824122 G A rs6965750 DNAH11 Synonymous SNV L3187L 0.122 0.151 0.122 60 143 58 0.154 36 5 2 1 4 Benign/Likely benign 13.63 27811 chr17 7400815 7400815 T C rs2228128 POLR2A Synonymous SNV N320N 0.204 0.232 0.207 73 239 89 0.187 61 23 11 5 4 0.159 27812 chr19 53612745 53612745 T C rs1133327 ZNF415 Nonsynonymous SNV I185V 0.473 0.516 0.483 197 555 198 0.505 142 136 54 30 48 0.001 27813 chr17 48680475 48680475 C T rs374849749 CACNA1G Synonymous SNV L1339L 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 0 Benign 15.48 27814 chr17 72838649 72838649 C A rs3744215 GRIN2C Nonsynonymous SNV R1209S 0.339 0.336 0.347 120 398 129 0.308 102 69 22 21 21 22 27815 chr7 21893993 21893993 G T rs4722064 DNAH11 Nonsynonymous SNV V3708L 0.685 0.677 0.677 260 804 260 0.667 199 269 82 68 87 Benign 30 27816 chr19 53612757 53612757 T G rs1054485 ZNF415 Nonsynonymous SNV I181L 0.477 0.521 0.483 198 560 200 0.508 142 139 54 30 48 16.49 27817 chr7 21901566 21901566 T C rs4722067 DNAH11 Synonymous SNV H3766H 0.784 0.813 0.799 302 920 312 0.774 235 356 129 91 113 Benign 0.011 27818 chr17 74921129 74921129 C T rs34056052 MGAT5B Synonymous SNV H380H 0.124 0.138 0.099 43 145 53 0.11 29 8 5 1 3 14.36 27819 chr17 62125278 62125278 C T rs56371725 ERN1 Synonymous SNV A823A 0.02 0.016 0.027 2 24 6 0.005 8 1 0 0 0 18.86 27820 chr19 53645291 53645291 T C rs2195310 ZNF347 Nonsynonymous SNV N265D 0.653 0.633 0.578 239 767 243 0.613 170 251 79 51 76 0.491 27821 chr17 48733349 48733349 C T rs34926034 ABCC3 Nonsynonymous SNV H68Y 0.005 0.005 0.003 7 6 2 0.018 1 0 0 0 0 Benign 10.33 27822 chr17 74942512 74942512 C T rs148706236 MGAT5B Nonsynonymous SNV H644Y 0.014 0.016 0 2 16 6 0.005 0 0 0 0 0 20.9 27823 chr17 62137930 62137930 G A rs55939178 ERN1 Synonymous SNV L369L 0.057 0.049 0.065 16 67 19 0.041 19 1 0 0 0 11.99 27824 chr7 21932044 21932044 C T rs12537531 DNAH11 Nonsynonymous SNV T4170I 0.412 0.391 0.405 147 484 150 0.377 119 97 31 24 26 Benign/Likely benign 13.03 27825 chr19 53667804 53667804 C T rs4801958 ZNF665 Nonsynonymous SNV V647I 0.571 0.544 0.534 207 670 209 0.531 157 199 59 43 54 0.02 27826 chr7 21934511 21934511 G A rs72658825 DNAH11 Nonsynonymous SNV A4315T 0.036 0.044 0.048 19 42 17 0.049 14 0 0 1 0 Benign 2.176 27827 chr17 62496670 62496670 A C rs1140409 DDX5 Nonsynonymous SNV S480A 0.099 0.102 0.078 40 116 39 0.103 23 7 0 4 3 9.572 27828 chr19 53667913 53667913 A G rs12459469 ZNF665 Synonymous SNV N610N 0.571 0.544 0.527 207 670 209 0.531 155 199 59 43 54 0.025 27829 chr17 72877212 72877212 C T rs7219093 FADS6 Nonsynonymous SNV V238I 0.047 0.044 0.048 21 55 17 0.054 14 0 1 0 0 32 27830 chr17 56557617 56557617 C T rs117884653 HSF5 Nonsynonymous SNV V188I 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 20.4 27831 chr19 53667940 53667940 A G rs12459471 ZNF665 Synonymous SNV N601N 0.571 0.544 0.524 207 670 209 0.531 154 199 59 43 54 0.034 27832 chr7 21939032 21939032 C A rs56333627 DNAH11 Synonymous SNV L4376L 0.353 0.352 0.344 123 414 135 0.315 101 71 24 11 19 Benign/Likely benign 16.25 27833 chr17 75190962 75190962 C T rs674402 SEC14L1 Synonymous SNV S192S 0.319 0.292 0.289 121 374 112 0.31 85 66 19 14 21 12.8 27834 chr6 152129308 152129308 G C rs746432 ESR1 Synonymous SNV A87A 0.07 0.086 0.037 24 82 33 0.062 11 4 2 0 0 9.751 27835 chr19 53669273 53669273 T C rs4801959 ZNF665 Nonsynonymous SNV H157R 0.967 0.945 0.969 379 1135 363 0.972 285 550 172 138 184 0.001 27836 chr17 48762223 48762223 G A rs148982238 ABCC3 Nonsynonymous SNV G1423R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 34 27837 chr7 22202117 22202117 G A rs12592 RAPGEF5 Synonymous SNV D139D 0.572 0.565 0.541 219 672 217 0.562 159 200 69 43 60 13.19 27838 chr17 74078619 74078619 T C ZACN Nonsynonymous SNV V375A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 4.919 27839 chr7 22206753 22206753 A G rs190641550 RAPGEF5 Synonymous SNV D103D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.23 27840 chr19 53669492 53669492 A G rs12460170 ZNF665 Nonsynonymous SNV V84A 0.572 0.544 0.534 207 671 209 0.531 157 200 59 43 54 0.002 27841 chr17 75398498 75398498 C T rs34587622 SEPTIN9 Nonsynonymous SNV P138L 0.149 0.154 0.119 57 175 59 0.146 35 13 5 2 5 Benign 14.82 27842 chr17 7256674 7256674 G A rs200259439 KCTD11 Nonsynonymous SNV R138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 27843 chr7 22478207 22478207 G T rs2528843 STEAP1B Synonymous SNV A310A 0.56 0.505 0.497 215 657 194 0.551 146 188 49 36 60 1.741 27844 chr19 53716278 53716278 A G rs10853858 ZNF818P 0 0 0.35 0 0 0 0 103 0 0 17 0 0.506 27845 chr6 152420095 152420095 G A rs2228480 ESR1 Synonymous SNV T594T 0.125 0.161 0.119 65 147 62 0.167 35 9 6 3 4 6.789 27846 chr7 23015831 23015831 T C rs3735231 FAM126A Synonymous SNV S208S 0.36 0.365 0.344 158 423 140 0.405 101 73 23 20 30 Benign 11.59 27847 chr19 53716460 53716460 A G rs10853859 ZNF818P 0 0 0.35 0 0 0 0 103 0 0 17 0 0.702 27848 chr19 53740822 53740822 T C rs8113436 ZNF677 Synonymous SNV E386E 0.361 0.388 0.381 117 424 149 0.3 112 67 24 24 15 1.346 27849 chr6 152443744 152443744 G T rs2295190 SYNE1 Nonsynonymous SNV L919M 0.086 0.076 0.085 38 101 29 0.097 25 5 4 1 2 Benign 24.5 27850 chr19 53741068 53741068 C T rs12984188 ZNF677 Synonymous SNV S304S 0.361 0.388 0.381 117 424 149 0.3 112 67 24 24 15 15.5 27851 chr7 23164701 23164701 C T rs15775 KLHL7 Synonymous SNV L118L 0.426 0.438 0.408 193 500 168 0.495 120 106 35 23 43 Benign 13.81 27852 chr19 53741188 53741188 C T rs12984473 ZNF677 Synonymous SNV K264K 0.361 0.388 0.381 117 424 149 0.3 112 67 24 24 15 11.35 27853 chr7 23240263 23240263 G A rs13243961 NUP42 Nonsynonymous SNV D388N 0.058 0.057 0.058 27 68 22 0.069 17 3 0 0 2 23 27854 chr19 53770261 53770261 T C rs12977715 VN1R4 Nonsynonymous SNV N220D 0.215 0.224 0.218 87 252 86 0.223 64 2 1 0 2 Benign 0.009 27855 chr17 74266322 74266322 T C rs712833 UBALD2 Synonymous SNV D77D 0.024 0.023 0.014 8 28 9 0.021 4 1 1 0 0 3.119 27856 chr19 53770764 53770764 G A rs74429916 VN1R4 Nonsynonymous SNV A52V 0.283 0.268 0.269 130 332 103 0.333 79 34 10 10 20 23.1 27857 chr7 23296533 23296533 G A rs199355 GPNMB Synonymous SNV P130P 0.46 0.482 0.473 192 540 185 0.492 139 126 44 25 46 5.599 27858 chr17 72862593 72862593 C T rs690514 FDXR Nonsynonymous SNV R71Q 0.279 0.271 0.34 104 327 104 0.267 100 53 17 17 16 14.14 27859 chr6 152529260 152529260 G A rs3798756 SYNE1 Synonymous SNV I7486I 0.149 0.148 0.167 56 175 57 0.144 49 20 6 2 3 Benign 18.27 27860 chr7 23751736 23751736 A G rs7779633 STK31 Synonymous SNV Q23Q 0.355 0.362 0.248 143 417 139 0.367 73 72 23 17 29 0.622 27861 chr17 74273299 74273299 G A rs73350377 QRICH2 Nonsynonymous SNV P1571L 0.025 0.026 0.01 8 29 10 0.021 3 1 1 0 0 6.55 27862 chr7 23757162 23757162 G C rs6945306 STK31 Nonsynonymous SNV Q48H 0.301 0.359 0.303 135 353 138 0.346 89 69 30 13 25 3.684 27863 chr19 53793042 53793042 G A rs8109165 BIRC8 0.503 0.505 0.51 219 591 194 0.562 150 144 52 38 59 4.968 27864 chr17 7592560 7592560 C T rs2287498 WRAP53 Synonymous SNV F150F 0.074 0.047 0.044 28 87 18 0.072 13 4 0 1 1 Benign/Likely benign 11.33 27865 chr17 72863030 72863030 T C rs1688149 FDXR Nonsynonymous SNV D92G 0.279 0.273 0.337 104 328 105 0.267 99 53 17 17 17 0.002 27866 chr19 53793574 53793574 A G rs2865248 BIRC8 0.508 0.505 0.517 217 596 194 0.556 152 147 52 39 58 0.587 27867 chr7 24325009 24325009 G A rs5573 NPY Synonymous SNV S50S 0.456 0.477 0.493 176 535 183 0.451 145 118 40 33 40 16.45 27868 chr6 152615200 152615200 G A rs12664753 SYNE1 Synonymous SNV H5844H 0.158 0.174 0.17 61 185 67 0.156 50 16 8 3 6 Benign 0.175 27869 chr19 53848779 53848779 T C rs75887836 ZNF845 Synonymous SNV D12D 0.118 0.135 0.129 47 139 52 0.121 38 5 4 2 4 Likely benign 0.016 27870 chr7 24329133 24329133 C T rs5574 NPY Synonymous SNV S68S 0.411 0.443 0.446 158 482 170 0.405 131 97 36 27 34 12.46 27871 chr19 53848837 53848837 C T rs56683540 ZNF845 Synonymous SNV L32L 0.118 0.135 0.129 47 139 52 0.121 38 5 4 2 4 Likely benign 1.58 27872 chr17 76130575 76130575 A T rs7208422 TMC8 Nonsynonymous SNV N306I 0.537 0.568 0.568 219 630 218 0.562 167 176 68 45 63 Benign 5.512 27873 chr7 24703298 24703298 G A rs1053962 MPP6 Synonymous SNV E247E 0.281 0.297 0.299 117 330 114 0.3 88 44 20 13 15 11 27874 chr19 53848845 53848845 G A rs57319493 ZNF845 Synonymous SNV R34R 0.118 0.135 0.129 47 139 52 0.121 38 5 4 2 4 5.495 27875 chr19 53856349 53856349 A T rs55874600 ZNF845 Nonsynonymous SNV E807D 0.363 0.305 0.337 137 426 117 0.351 99 73 19 17 27 13.47 27876 chr7 24756951 24756951 C T rs12540919 GSDME Nonsynonymous SNV V43M 0.091 0.099 0.099 33 107 38 0.085 29 5 2 1 2 Benign/Likely benign 31 27877 chr19 53884412 53884412 G A rs4438413 ZNF525 Nonsynonymous SNV D194N 0.601 0.648 0.609 247 706 249 0.633 179 213 79 58 82 0.02 27878 chr7 24758753 24758753 C T rs754555 GSDME Synonymous SNV T163T 0.131 0.125 0.139 45 154 48 0.115 41 12 5 2 5 Benign/Likely benign 11.69 27879 chr19 54080144 54080144 A G rs8109631 ZNF331 Synonymous SNV R110R 0.715 0.734 0.786 278 839 282 0.713 231 298 102 92 102 0.301 27880 chr17 72860653 72860653 G A rs34038065 FDXR Nonsynonymous SNV R211W 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 25 27881 chr7 24758795 24758795 T C rs876305 GSDME Synonymous SNV E149E 0.401 0.383 0.357 159 471 147 0.408 105 107 30 17 30 Benign 0.013 27882 chr17 76178748 76178748 T C rs1143697 TK1 Synonymous SNV A75A 0.452 0.424 0.463 168 531 163 0.431 136 120 25 34 37 6.489 27883 chr19 54080279 54080279 T C rs1351 ZNF331 Synonymous SNV G155G 0.07 0.094 0.078 31 82 36 0.079 23 4 0 2 0 0.118 27884 chr17 76183043 76183043 A G rs1071664 TK1 Synonymous SNV P11P 0.375 0.357 0.357 146 440 137 0.374 105 91 22 19 29 8.585 27885 chr7 24758818 24758818 G T rs754554 GSDME Nonsynonymous SNV P142T 0.131 0.125 0.139 45 154 48 0.115 41 12 5 2 5 Benign/Likely benign 0.002 27886 chr19 54080780 54080780 C T rs16985052 ZNF331 Synonymous SNV T322T 0.069 0.094 0.075 31 81 36 0.079 22 3 0 2 0 8.808 27887 chr17 74289242 74289242 T C rs3803736 QRICH2 Synonymous SNV Q356Q 0.026 0.023 0.01 8 30 9 0.021 3 0 1 0 0 0.021 27888 chr19 54080999 54080999 A G rs1056393 ZNF331 Synonymous SNV G395G 0.069 0.094 0.078 31 81 36 0.079 23 3 0 2 0 2.951 27889 chr7 24854765 24854765 G A rs1044956 OSBPL3 Synonymous SNV S628S 0.295 0.263 0.231 108 346 101 0.277 68 41 17 7 13 13.15 27890 chr19 54307322 54307322 G A rs12460528 NLRP12 Synonymous SNV L824L 0.494 0.521 0.384 204 580 200 0.523 113 143 57 28 51 Benign 8.08 27891 chr17 76395430 76395430 C T rs2292642 PGS1 Synonymous SNV G171G 0.612 0.607 0.588 209 719 233 0.536 173 217 71 50 54 10.83 27892 chr19 54308554 54308554 C T rs4806773 NLRP12 Synonymous SNV Q799Q 0.857 0.859 0.827 326 1006 330 0.836 243 436 142 99 137 Benign 5.888 27893 chr7 25181912 25181912 T C rs2285738 C7orf31 Nonsynonymous SNV H300R 0.625 0.682 0.653 261 734 262 0.669 192 225 86 62 84 14.14 27894 chr19 54385820 54385820 C T rs2547362 PRKCG Synonymous SNV A24A 0.98 0.987 0.969 381 1150 379 0.977 285 563 187 138 186 Benign 17.11 27895 chr17 76421626 76421626 A C rs142772880 DNAH17 Nonsynonymous SNV F4314L 0.017 0.039 0.017 7 20 15 0.018 5 0 1 0 0 11.61 27896 chr17 64881226 64881226 C T rs41280112 CACNG5 Nonsynonymous SNV H233Y 0.013 0.016 0.02 9 15 6 0.023 6 0 0 0 0 24.8 27897 chr17 58234047 58234047 C T rs778493161 CA4 Nonsynonymous SNV T80M 0.003 0.01 0 0 4 4 0 0 0 0 0 0 22.3 27898 chr19 54394965 54394965 T C rs3745406 PRKCG Synonymous SNV N189N 0.372 0.393 0.439 155 437 151 0.397 129 77 29 31 30 Benign 5.088 27899 chr7 25194665 25194665 G C rs2523072 C7orf31 Nonsynonymous SNV T187S 0.588 0.586 0.609 225 690 225 0.577 179 197 66 51 65 20.1 27900 chr19 54545186 54545186 C T rs73058793 VSTM1 Synonymous SNV P59P 0.227 0.232 0.221 90 267 89 0.231 65 28 13 9 9 8.645 27901 chr19 54545531 54545531 T C rs2433724 VSTM1 Nonsynonymous SNV S43G 0.319 0.362 0.303 120 375 139 0.308 89 54 23 15 18 0.086 27902 chr6 152772264 152772264 A G rs214976 SYNE1 Nonsynonymous SNV V1042A 0.423 0.409 0.527 168 497 157 0.431 155 105 32 39 37 Benign 23.4 27903 chr17 649067 649067 A G rs1062923 GEMIN4 Nonsynonymous SNV I739T 0.145 0.182 0.143 57 170 70 0.146 42 10 7 4 3 0.003 27904 chr7 25194753 25194753 C T rs12535348 C7orf31 Nonsynonymous SNV A158T 0.422 0.445 0.49 174 496 171 0.446 144 109 37 34 42 26 27905 chr19 5455611 5455611 C T rs2240743 ZNRF4 Nonsynonymous SNV P37S 0.529 0.536 0.497 201 621 206 0.515 146 169 56 36 50 9.693 27906 chr17 51902356 51902356 G C rs549376658 KIF2B Nonsynonymous SNV E654D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.71 27907 chr17 59477903 59477903 C A rs75743672 TBX2 Synonymous SNV G122G 0.063 0.036 0.065 20 74 14 0.051 19 2 0 3 0 13.7 27908 chr7 25267934 25267934 T C rs877834 NPVF Nonsynonymous SNV D42G 0.214 0.219 0.058 85 251 84 0.218 17 27 7 5 13 7.899 27909 chr19 5455796 5455796 A G rs420325 ZNRF4 Synonymous SNV A98A 0.566 0.557 0.548 217 665 214 0.556 161 194 60 40 56 0.136 27910 chr19 5455971 5455971 G T rs8103406 ZNRF4 Nonsynonymous SNV A157S 0.525 0.529 0.5 201 616 203 0.515 147 167 54 36 50 3.422 27911 chr7 25267963 25267963 G C rs886354 NPVF Nonsynonymous SNV I32M 0.979 0.958 0.782 379 1149 368 0.972 230 562 176 114 185 0.002 27912 chr19 5455978 5455978 T C rs8107825 ZNRF4 Nonsynonymous SNV V159A 0.525 0.529 0.5 201 616 203 0.515 147 167 54 36 50 0.001 27913 chr17 7339820 7339820 C T rs138391537 TMEM102 Synonymous SNV I174I 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 7.278 27914 chr7 27135314 27135314 C T rs10951154 HOXA1 Nonsynonymous SNV R73H 0.825 0.786 0.806 312 969 302 0.8 237 405 117 94 122 Benign 14.35 27915 chr17 76475574 76475574 C A rs78514572 DNAH17 Synonymous SNV A2631A 0.032 0.06 0.027 13 38 23 0.033 8 1 2 0 0 10.99 27916 chr19 5455989 5455989 C T rs8104246 ZNRF4 Nonsynonymous SNV R163C 0.016 0.016 0.031 5 19 6 0.013 9 0 0 0 0 25.4 27917 chr17 76481180 76481180 G A rs74001373 DNAH17-AS1 0.072 0.049 0.048 32 84 19 0.082 14 5 0 0 1 4.428 27918 chr7 27169093 27169093 T G rs2158218 HOXA4 Synonymous SNV R238R 0.969 0.977 0.966 377 1138 375 0.967 284 551 183 137 183 10.27 27919 chr17 650518 650518 G A rs35696687 GEMIN4 Synonymous SNV D255D 0.146 0.182 0.143 58 171 70 0.149 42 10 7 4 3 2.961 27920 chr19 5455990 5455990 G A rs17304380 ZNRF4 Nonsynonymous SNV R163H 0.175 0.174 0.153 67 206 67 0.172 45 21 4 3 4 24.9 27921 chr6 154360797 154360797 A G rs1799971 OPRM1 Nonsynonymous SNV N40D 0.173 0.174 0.143 61 203 67 0.156 42 18 6 4 6 drug response 24.1 27922 chr7 27170145 27170145 T G rs6944345 HOXA4 Nonsynonymous SNV T70P 0.933 0.901 0.959 355 1095 346 0.91 282 536 171 137 173 0.348 27923 chr17 7320581 7320581 C T rs78081080 NLGN2 Synonymous SNV P657P 0.069 0.065 0.058 28 81 25 0.072 17 3 1 0 1 8.578 27924 chr17 74564841 74564841 T C rs150523896 ST6GALNAC2 Nonsynonymous SNV K271E 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 27.8 27925 chr19 54561792 54561792 G A rs11669427 VSTM1 Synonymous SNV A41A 0.251 0.227 0.269 91 295 87 0.233 79 46 6 11 10 7.587 27926 chr19 5456450 5456450 T C rs8111108 ZNRF4 Synonymous SNV Y316Y 0.559 0.555 0.548 216 656 213 0.554 161 186 59 40 55 0.017 27927 chr17 76482435 76482435 C T rs61743860 DNAH17 Synonymous SNV T2324T 0.089 0.07 0.048 39 104 27 0.1 14 5 0 0 1 9.971 27928 chr7 27196069 27196069 A C rs2301720 HOXA7 Synonymous SNV A32A 0.912 0.914 0.881 342 1071 351 0.877 259 490 163 114 148 1.419 27929 chr19 54600232 54600232 A C rs1657535 OSCAR Nonsynonymous SNV I86S 0.992 0.995 0.983 384 1165 382 0.985 289 578 190 142 189 4.846 27930 chr7 27196113 27196113 C T rs2301721 HOXA7 Nonsynonymous SNV A18T 0.877 0.891 0.827 337 1030 342 0.864 243 454 156 103 143 17.72 27931 chr17 72943418 72943418 G A rs34805215 OTOP3 Nonsynonymous SNV E472K 0.025 0.023 0.02 13 29 9 0.033 6 0 0 0 0 8.539 27932 chr6 154414563 154414563 A G rs675026 OPRM1 Synonymous SNV G441G 0.681 0.685 0.66 274 800 263 0.703 194 278 91 60 96 drug response 6.017 27933 chr19 54649671 54649671 T C rs36665 CNOT3 Synonymous SNV P243P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.255 27934 chr17 73498652 73498652 G A rs77001351 CASKIN2 Nonsynonymous SNV R753C 0.046 0.042 0.024 13 54 16 0.033 7 1 0 0 0 26.9 27935 chr6 154414573 154414573 C T rs562859 OPRM1 Synonymous SNV L445L 0.681 0.685 0.653 274 800 263 0.703 192 278 91 60 96 drug response 6.869 27936 chr7 27203139 27203139 G A rs7810502 HOXA10-HOXA9 0.768 0.758 0.687 300 902 291 0.769 202 368 113 86 115 1.289 27937 chr19 54652203 54652203 T C rs43211 CNOT3 Synonymous SNV G405G 0.819 0.805 0.85 325 962 309 0.833 250 399 121 106 138 0.004 27938 chr7 27827191 27827191 A G rs143687148 TAX1BP1 Nonsynonymous SNV Q179R 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 22.4 27939 chr19 54662043 54662043 C T rs35089861 LENG1 Nonsynonymous SNV E97K 0.035 0.031 0.037 12 41 12 0.031 11 1 1 1 0 34 27940 chr6 155451352 155451352 G A rs931312 TIAM2 Nonsynonymous SNV R332H 0.222 0.208 0.197 94 261 80 0.241 58 27 9 6 9 26.2 27941 chr17 76496350 76496350 A C rs35901117 DNAH17-AS1 0.326 0.344 0.296 140 383 132 0.359 87 64 27 14 23 0.001 27942 chr17 72954838 72954838 C T rs142908356 HID1 Synonymous SNV L390L 0.022 0.052 0.034 9 26 20 0.023 10 0 0 1 0 8.473 27943 chr7 28997498 28997498 C - rs67010340 TRIL 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 27944 chr19 54664209 54664209 G C rs36657 TMC4 Nonsynonymous SNV Q689E 0.503 0.521 0.568 194 590 200 0.497 167 152 53 45 47 0.649 27945 chr17 76496361 76496361 C G rs34124297 DNAH17-AS1 0.325 0.344 0.296 141 382 132 0.362 87 62 26 14 23 0.002 27946 chr6 155485554 155485554 G A rs1032141 TIAM2 Synonymous SNV Q678Q 0.672 0.612 0.653 273 789 235 0.7 192 264 80 63 97 9.451 27947 chr7 29070209 29070209 G A rs7313 CPVL Nonsynonymous SNV A257V 0.437 0.432 0.442 158 513 166 0.405 130 106 41 35 33 15.06 27948 chr19 54664752 54664752 A C rs36656 TMC4 Synonymous SNV L618L 0.525 0.555 0.582 200 616 213 0.513 171 169 57 46 49 0.061 27949 chr19 54665970 54665970 C T rs36655 TMC4 Synonymous SNV Q524Q 0.32 0.318 0.296 110 376 122 0.282 87 68 19 11 14 15.51 27950 chr7 29160604 29160604 C T rs34219043 CPVL Nonsynonymous SNV R25H 0.227 0.237 0.235 78 266 91 0.2 69 31 15 6 11 13.51 27951 chr19 54676763 54676763 C T rs641738 TMC4 Nonsynonymous SNV G17E 0.463 0.469 0.483 172 543 180 0.441 142 125 48 35 32 8.604 27952 chr17 76497778 76497778 T C rs671899 DNAH17-AS1 0.352 0.365 0.296 145 413 140 0.372 87 67 26 14 22 0.878 27953 chr17 73518328 73518328 A C rs77247739 TSEN54 Nonsynonymous SNV Q389P 0.076 0.099 0.109 40 89 38 0.103 32 2 2 4 1 Benign/Likely benign 0.232 27954 chr7 29186576 29186576 A G rs245881 CHN2 0.721 0.677 0.724 276 847 260 0.708 213 309 89 76 98 0.027 27955 chr17 5442790 5442790 C T rs61754791 NLRP1 Nonsynonymous SNV V939M 0.018 0.026 0.017 19 21 10 0.049 5 0 0 0 0 23.8 27956 chr19 54677759 54677759 T C rs4806721 MBOAT7 Synonymous SNV P393P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.169 27957 chr19 54697079 54697079 C T rs7595 TSEN34 Synonymous SNV P265P 0.831 0.836 0.793 311 976 321 0.797 233 407 138 92 125 Benign 12.91 27958 chr7 29605975 29605975 C G rs2302618 PRR15 Synonymous SNV S10S 0.943 0.924 0.925 368 1107 355 0.944 272 528 169 125 175 14.88 27959 chr19 54722275 54722275 G A rs1132609 LILRB3 Synonymous SNV A516A 0.338 0.328 0.374 125 397 126 0.321 110 68 20 23 19 6.471 27960 chr6 155577823 155577823 C T rs1571766 TIAM2 Synonymous SNV A483A 0.53 0.536 0.52 207 622 206 0.531 153 161 61 37 51 2.455 27961 chr7 29606288 29606288 C T rs10271996 PRR15 Nonsynonymous SNV P115S 0.327 0.313 0.333 96 384 120 0.246 98 81 26 16 6 1.36 27962 chr19 54723029 54723029 T G rs61734492 LILRB3 Synonymous SNV R465R 0.023 0.021 0.065 10 27 8 0.026 19 0 0 1 0 0.159 27963 chr6 155596901 155596901 T C rs927718 CLDN20 Synonymous SNV S16S 0.533 0.536 0.52 206 626 206 0.528 153 163 61 37 51 2.229 27964 chr17 76498844 76498844 A G rs7218164 DNAH17-AS1 0.237 0.245 0.136 83 278 94 0.213 40 32 12 6 7 3.267 27965 chr19 54723030 54723030 C A rs61734493 LILRB3 Nonsynonymous SNV R465L 0.023 0.021 0.065 10 27 8 0.026 19 0 0 1 0 3.685 27966 chr17 76503624 76503624 C T rs626439 DNAH17 Synonymous SNV E1500E 0.196 0.206 0.187 94 230 79 0.241 55 24 10 5 14 Benign 11.44 27967 chr6 155597147 155597147 C T rs1555774 CLDN20 Synonymous SNV S98S 0.267 0.289 0.231 97 313 111 0.249 68 38 22 6 12 11.86 27968 chr7 29606316 29606316 C A rs112093295 PRR15 Nonsynonymous SNV P124H 0.135 0.125 0.133 67 158 48 0.172 39 18 3 3 4 25.7 27969 chr6 155606325 155606325 C T rs324356 TFB1M Synonymous SNV T211T 0.468 0.495 0.497 186 549 190 0.477 146 122 47 32 45 15.6 27970 chr19 54723738 54723738 G C rs255772 LILRB3 0.862 0.867 0.878 341 1012 333 0.874 258 442 149 116 153 0.47 27971 chr7 29923572 29923572 T C rs28439342 WIPF3 Synonymous SNV N154N 0.142 0.154 0.092 64 167 59 0.164 27 9 4 5 2 8.248 27972 chr19 54742900 54742900 C G rs117376661 LILRA6 Nonsynonymous SNV V459L 0.017 0.016 0.071 9 20 6 0.023 21 1 0 1 0 0.075 27973 chr7 30113706 30113706 A G rs11977829 PLEKHA8 Synonymous SNV T440T 0.193 0.201 0.187 82 226 77 0.21 55 19 5 7 8 5.454 27974 chr6 157099982 157099990 GGCGGCGGC - rs757008446 ARID1B G317_G319del 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 27975 chr17 66366659 66366659 C G rs144503106 ARSG Nonsynonymous SNV R310G 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 12 27976 chr7 30174773 30174773 C G rs73689406 MTURN Synonymous SNV A7A 0.137 0.154 0.116 61 161 59 0.156 34 7 5 2 3 18.38 27977 chr19 54754752 54754752 T C rs433291 LILRB5 Synonymous SNV L458L 0.829 0.859 0.816 336 973 330 0.862 240 404 141 103 145 0.003 27978 chr6 158497717 158497717 T C rs2296508 SYNJ2 Synonymous SNV V547V 0.457 0.461 0.476 183 537 177 0.469 140 118 32 36 40 0.039 27979 chr19 54755922 54755922 C T rs12977062 LILRB5 Nonsynonymous SNV A442T 0.298 0.336 0.395 141 350 129 0.362 116 48 29 23 22 0.01 27980 chr7 30634661 30634661 C G rs1049402 GARS1 Nonsynonymous SNV P42A 0.761 0.763 0.813 307 893 293 0.787 239 352 120 99 130 Benign 0.001 27981 chr6 158499302 158499302 G T rs2296507 SYNJ2 Synonymous SNV A615A 0.444 0.445 0.48 180 521 171 0.462 141 114 30 37 39 6.341 27982 chr19 54755923 54755923 A G rs12976868 LILRB5 Synonymous SNV D441D 0.3 0.339 0.395 141 352 130 0.362 116 49 29 23 22 0.023 27983 chr19 54759361 54759361 T C rs12975366 LILRB5 Nonsynonymous SNV D147G 0.522 0.539 0.602 228 613 207 0.585 177 155 59 58 64 22.8 27984 chr7 30791848 30791848 G A rs4723010 INMT Nonsynonymous SNV D28N 0.381 0.359 0.361 126 447 138 0.323 106 72 27 19 24 2.436 27985 chr17 55072893 55072893 C A rs750050389 SCPEP1 Nonsynonymous SNV A228E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.239 27986 chr6 158507981 158507981 G A rs2296506 SYNJ2 Synonymous SNV R864R 0.41 0.424 0.466 171 481 163 0.438 137 112 31 36 39 10.82 27987 chr19 54849463 54849463 C T rs12976217 LILRA4 Synonymous SNV V133V 0.398 0.396 0.429 160 467 152 0.41 126 90 34 21 31 6.066 27988 chr17 76798549 76798554 TTTTTC - rs71964596 USP36 K959_K960del 0.53 0.542 0.442 215 622 208 0.551 130 173 55 36 59 27989 chr7 30795288 30795288 A G rs2302339 INMT Nonsynonymous SNV M204V 0.319 0.302 0.296 110 374 116 0.282 87 48 20 16 20 9.589 27990 chr19 54849481 54849481 T G rs7256494 LILRA4 Synonymous SNV A127A 0.414 0.409 0.429 164 486 157 0.421 126 94 36 22 34 0.717 27991 chr17 7330290 7330290 C T rs78371599 SPEM2 Nonsynonymous SNV S327L 0.023 0.034 0.031 7 27 13 0.018 9 0 0 0 0 0.098 27992 chr17 73729660 73729660 G A rs61735297 ITGB4 Nonsynonymous SNV R515H 0.03 0.055 0.02 9 35 21 0.023 6 1 1 0 1 Benign 14.29 27993 chr17 73570695 73570695 G A rs35886912 LLGL2 Nonsynonymous SNV G1001S 0.024 0.021 0.017 2 28 8 0.005 5 0 0 0 0 0.085 27994 chr6 158517308 158517308 A G rs2502601 SYNJ2 Nonsynonymous SNV E1231G 0.431 0.438 0.456 178 506 168 0.456 134 107 30 33 37 0.759 27995 chr19 549080 549080 A G rs59771750 GZMM Synonymous SNV Q130Q 0.103 0.096 0.085 36 121 37 0.092 25 12 3 0 3 0.003 27996 chr19 54937862 54937862 C T rs45477994 TTYH1 Synonymous SNV Y217Y 0.259 0.263 0.245 95 304 101 0.244 72 48 15 12 9 12.27 27997 chr7 30795436 30795436 T G rs4720015 INMT Nonsynonymous SNV F253C 0.873 0.854 0.857 334 1025 328 0.856 252 447 142 109 141 24.8 27998 chr19 54946784 54946784 A G rs3745420 TTYH1 Synonymous SNV L396L 0.385 0.417 0.398 161 452 160 0.413 117 97 35 30 32 9.742 27999 chr17 76799860 76799860 T C rs3088040 USP36 Nonsynonymous SNV Q806R 0.566 0.57 0.463 226 665 219 0.579 136 192 60 40 70 0.001 28000 chr17 76157271 76157271 G A rs72898212 C17orf99 Synonymous SNV A102A 0.068 0.083 0.112 19 80 32 0.049 33 3 0 2 0 9.346 28001 chr17 66887641 66887641 C G ABCA8 Nonsynonymous SNV D1005H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.7 28002 chr7 30831082 30831082 C T rs12701034 MINDY4 Nonsynonymous SNV T322M 0.486 0.497 0.493 180 570 191 0.462 145 120 51 39 39 11.5 28003 chr19 54965860 54965860 G A rs3813148 LENG8 Synonymous SNV K226K 0.652 0.672 0.643 267 765 258 0.685 189 258 87 61 94 7.136 28004 chr17 76799898 76799898 A G rs9302885 USP36 Synonymous SNV S793S 0.566 0.565 0.497 227 664 217 0.582 146 191 60 42 70 0.379 28005 chr19 54966579 54966579 C G rs889147 LENG8 Synonymous SNV P286P 0.687 0.706 0.69 282 806 271 0.723 203 283 98 69 101 9.703 28006 chr17 76178751 76178751 C T rs1143696 TK1 Synonymous SNV E74E 0.032 0.044 0.054 5 38 17 0.013 16 1 0 0 0 15.58 28007 chr6 158735296 158735296 G A rs151153166 TULP4 Nonsynonymous SNV S83N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 25.6 28008 chr17 7366619 7366619 T C rs34914463 ZBTB4 Nonsynonymous SNV N561S 0.096 0.102 0.075 33 113 39 0.085 22 9 1 1 3 0.018 28009 chr19 549678 549678 A G rs1599882 GZMM Nonsynonymous SNV R182G 0.988 0.995 0.99 385 1160 382 0.987 291 573 190 144 190 0.023 28010 chr7 30890161 30890161 G A rs78722842 MINDY4 Nonsynonymous SNV V513I 0.072 0.073 0.126 25 84 28 0.064 37 1 2 3 0 21.9 28011 chr17 76814782 76814782 G A rs35273233 USP36 Synonymous SNV R330R 0.28 0.273 0.207 129 329 105 0.331 61 46 11 6 21 14.38 28012 chr17 76198595 76198595 G A rs146611868 AFMID Nonsynonymous SNV R57Q 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 22.3 28013 chr17 76887273 76887273 G A rs113205945 CEP295NL Nonsynonymous SNV T438M 0.01 0.018 0.007 7 12 7 0.018 2 0 0 0 0 1.513 28014 chr19 54973280 54973280 C G rs10423424 LENG9 Nonsynonymous SNV R499P 0.585 0.641 0.616 253 687 246 0.649 181 201 79 57 86 6.371 28015 chr19 54973989 54973991 CCT - rs140013148 LENG9 E262del 0.63 0.664 0.612 260 740 255 0.667 180 243 87 61 89 28016 chr7 30915263 30915263 A G rs10216063 MINDY4 Nonsynonymous SNV M655V 0.206 0.25 0.286 100 242 96 0.256 84 16 19 15 8 7.89 28017 chr19 54974318 54974318 T C rs10406453 LENG9 Nonsynonymous SNV H131R 0.721 0.747 0.724 291 846 287 0.746 213 314 108 79 111 0.02 28018 chr17 77040185 77040185 G C rs4789853 C1QTNF1 Synonymous SNV S45S 0.299 0.299 0.272 119 351 115 0.305 80 63 22 19 21 3.598 28019 chr7 31592733 31592733 C A rs7811042 ITPRID1 Nonsynonymous SNV A32D 0.681 0.641 0.656 254 800 246 0.651 193 276 81 64 82 23.1 28020 chr19 54974774 54974774 A T rs1981829 LENG9 Star tloss M1? 0.542 0.549 0.337 228 636 211 0.585 99 273 93 45 94 8.513 28021 chr17 55950064 55950064 C T rs35704289 CUEDC1 Synonymous SNV E248E 0.302 0.279 0.238 86 355 107 0.221 70 49 19 9 7 14.31 28022 chr7 31611758 31611758 G T rs67930674 ITPRID1 Synonymous SNV G117G 0.379 0.339 0.405 162 445 130 0.415 119 79 28 27 40 7.136 28023 chr19 55175009 55175009 G T rs11540761 LILRB4 Nonsynonymous SNV R18S 0.179 0.211 0.16 88 210 81 0.226 47 13 4 4 5 8.749 28024 chr17 73830182 73830182 C T rs149871493 UNC13D Nonsynonymous SNV V781I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.367 28025 chr6 159006373 159006373 A C rs41266341 TMEM181 Nonsynonymous SNV K236N 0.023 0.023 0.02 10 27 9 0.026 6 0 0 0 1 14.54 28026 chr17 55951037 55951037 C T rs17762338 CUEDC1 Nonsynonymous SNV R169H 0.206 0.211 0.136 59 242 81 0.151 40 25 9 1 2 24 28027 chr7 31617733 31617733 T C rs6945679 ITPRID1 Synonymous SNV V285V 0.968 0.953 0.959 373 1137 366 0.956 282 550 174 135 178 0.038 28028 chr17 56056604 56056604 - TGC rs780474852 VEZF1 Q354_H355insQ 0.089 0.125 0.048 51 104 48 0.131 14 6 1 1 3 28029 chr7 31618008 31618008 A G rs10252720 ITPRID1 Nonsynonymous SNV H377R 0.968 0.953 0.959 374 1137 366 0.959 282 550 174 135 179 0.001 28030 chr19 55175710 55175710 G A rs150571856 LILRB4 Synonymous SNV L172L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.354 28031 chr17 7761926 7761926 C T rs3744252 CYB5D1 Synonymous SNV I80I 0.076 0.034 0.058 22 89 13 0.056 17 4 0 0 0 18.51 28032 chr19 55175740 55175740 C T rs3745871 LILRB4 Synonymous SNV F182F 0.41 0.458 0.412 192 481 176 0.492 121 100 43 22 47 6.071 28033 chr17 77758484 77758484 G A rs3751956 CBX2 Synonymous SNV L414L 0.468 0.482 0.452 193 550 185 0.495 133 138 43 31 49 1.957 28034 chr19 55176262 55176262 A G rs731170 LILRB4 Nonsynonymous SNV D252G 0.742 0.779 0.745 315 871 299 0.808 219 319 117 83 127 0.002 28035 chr7 31682453 31682453 C T rs4141001 ITPRID1 Nonsynonymous SNV A490V 0.801 0.766 0.793 318 940 294 0.815 233 378 108 93 129 11.9 28036 chr17 76471366 76471366 G A rs61746438 DNAH17 Synonymous SNV D2835D 0.125 0.107 0.112 41 147 41 0.105 33 7 1 2 1 Benign 11.25 28037 chr6 159398633 159398633 T C rs3756988 RSPH3 Synonymous SNV E444E 0.135 0.128 0.112 56 158 49 0.144 33 8 3 1 1 0.148 28038 chr19 55222100 55222100 C T rs7245810 LILRP2 0 0 0.333 0 0 0 0 98 0 0 15 0 1.472 28039 chr19 55222101 55222101 C T rs34539630 LILRP2 0 0 0.333 0 0 0 0 98 0 0 15 0 0.9 28040 chr7 31683410 31683410 G A rs10247620 ITPRID1 Nonsynonymous SNV C809Y 0.801 0.766 0.799 320 940 294 0.821 235 378 108 94 130 18.95 28041 chr6 159398700 159398700 C T rs3756987 RSPH3 Nonsynonymous SNV G422D 0.135 0.128 0.112 56 158 49 0.144 33 8 3 1 1 0.028 28042 chr19 55222106 55222106 G A rs6509898 LILRP2 0 0 0.316 0 0 0 0 93 0 0 14 0 1.624 28043 chr17 76481041 76481041 A C rs200203879 DNAH17 Nonsynonymous SNV F2520V 0.004 0.013 0 0 5 5 0 0 0 0 0 0 32 28044 chr19 55224692 55224692 T C rs17207369 LILRP2 0 0 0.33 0 0 0 0 97 0 0 11 0 1.859 28045 chr19 55224785 55224785 G A rs2296370 LILRP2 0 0 0.405 0 0 0 0 119 0 0 38 0 2.363 28046 chr17 7802454 7802454 A C rs11651304 CHD3 Synonymous SNV L818L 0.043 0.023 0.034 8 50 9 0.021 10 0 0 0 0 0.091 28047 chr19 55396900 55396900 A G rs1865096 FCAR Synonymous SNV R96R 0.692 0.701 0.677 277 812 269 0.71 199 283 90 71 93 0.017 28048 chr7 31848706 31848706 A G rs3213709 PDE1C Synonymous SNV G610G 0.226 0.279 0.177 110 265 107 0.282 52 32 17 6 12 8.575 28049 chr6 159398764 159398764 G A rs12191022 RSPH3 Synonymous SNV L401L 0.104 0.089 0.095 44 122 34 0.113 28 5 2 1 1 2.319 28050 chr17 78055757 78055757 C T rs61749058 CCDC40 Nonsynonymous SNV A630V 0.105 0.099 0.085 48 123 38 0.123 25 6 1 0 4 Benign 7.347 28051 chr19 55420801 55420801 C A rs3765013 NCR1 Synonymous SNV R90R 0.279 0.271 0.31 107 327 104 0.274 91 42 16 14 14 18.49 28052 chr7 31855569 31855569 G A rs2302450 PDE1C Synonymous SNV A594A 0.313 0.346 0.282 130 367 133 0.333 83 56 19 13 22 9.654 28053 chr6 159399348 159399348 A G rs768994 RSPH3 Nonsynonymous SNV M343T 0.099 0.086 0.054 44 116 33 0.113 16 5 2 1 1 24.4 28054 chr19 55441902 55441902 T C rs269950 NLRP7 Synonymous SNV A925A 0.541 0.565 0.578 195 635 217 0.5 170 176 63 56 52 Benign 0.138 28055 chr7 31855578 31855578 G A rs1860790 PDE1C Synonymous SNV N591N 0.966 0.982 0.956 376 1134 377 0.964 281 547 185 134 181 0.771 28056 chr7 32209425 32209425 A G rs977625 PDE1C Nonsynonymous SNV S94P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.87 28057 chr17 78064015 78064015 G C rs4889953 CCDC40 Nonsynonymous SNV K970N 0.427 0.393 0.286 155 501 151 0.397 84 156 45 30 47 0.935 28058 chr6 159407446 159407446 C T rs34582178 RSPH3 Nonsynonymous SNV R213Q 0.136 0.135 0.112 56 160 52 0.144 33 8 3 1 1 14.29 28059 chr19 55441995 55441995 A G rs269951 NLRP7 Synonymous SNV Y894Y 0.539 0.557 0.578 195 633 214 0.5 170 176 63 56 52 Benign 0.002 28060 chr17 73898188 73898188 G A rs34136221 MRPL38 Nonsynonymous SNV R99W 0.02 0.031 0.024 12 23 12 0.031 7 0 0 0 1 23.9 28061 chr19 55485899 55485899 G A rs2217659 NLRP2 Synonymous SNV K104K 0.185 0.177 0.173 65 217 68 0.167 51 20 10 3 7 5.51 28062 chr17 78064064 78064064 G A rs7207166 CCDC40 Nonsynonymous SNV G987R 0.438 0.393 0.163 149 514 151 0.382 48 176 48 16 51 5.929 28063 chr17 7366651 7366651 C G rs871990 ZBTB4 Nonsynonymous SNV M550I 0.077 0.078 0.085 21 90 30 0.054 25 4 2 0 0 0.002 28064 chr7 32209459 32209459 C T rs977626 PDE1C Synonymous SNV E82E 0.38 0.383 0.405 158 446 147 0.405 119 73 24 25 39 12.43 28065 chr19 55512137 55512137 C A rs12768 NLRP2 Synonymous SNV I998I 0.557 0.555 0.531 228 654 213 0.585 156 199 67 43 72 15.96 28066 chr6 159414899 159414899 T C rs16889320 RSPH3 Nonsynonymous SNV N201S 0.104 0.089 0.095 44 122 34 0.113 28 5 2 1 1 21.2 28067 chr19 55525497 55525497 A G rs1671150 GP6 Nonsynonymous SNV F606L 0.825 0.807 0.806 329 968 310 0.844 237 398 128 96 138 Benign 0.001 28068 chr7 32338337 32338337 G A rs215607 PDE1C Nonsynonymous SNV A4V 0.755 0.74 0.741 292 886 284 0.749 218 331 108 80 108 24.2 28069 chr6 159420574 159420574 T C rs10945587 RSPH3 Synonymous SNV S145S 0.162 0.161 0.133 62 190 62 0.159 39 14 6 2 1 0.104 28070 chr17 73900907 73900907 C T rs143159098 MRPL38 Nonsynonymous SNV R17Q 0.013 0.018 0.014 9 15 7 0.023 4 0 0 0 1 25.1 28071 chr19 55525596 55525596 T C rs1654412 GP6 Nonsynonymous SNV R573G 0.825 0.813 0.796 329 968 312 0.844 234 398 130 96 138 Benign 9.08 28072 chr7 32529936 32529936 G C rs1584614 LSM5 Synonymous SNV P14P 0.73 0.74 0.752 265 857 284 0.679 221 302 106 84 90 11.64 28073 chr19 55525894 55525894 G A rs1671151 GP6 Synonymous SNV P473P 0.825 0.807 0.806 329 968 310 0.844 237 398 128 96 138 Benign 5.391 28074 chr7 32598630 32598630 T C rs2290213 AVL9 Nonsynonymous SNV C257R 0.006 0 0 3 7 0 0.008 0 0 0 0 0 0.002 28075 chr17 73916423 73916423 A T rs7213548 FBF1 Nonsynonymous SNV C588S 0.068 0.078 0.058 39 80 30 0.1 17 1 1 1 2 2.575 28076 chr19 55526345 55526345 T G rs1671152 GP6 Nonsynonymous SNV N304H 0.829 0.81 0.827 331 973 311 0.849 243 402 129 100 140 Benign 0.003 28077 chr7 32612837 32612837 T C rs138053039 AVL9 Synonymous SNV H459H 0.006 0 0 3 7 0 0.008 0 0 0 0 0 3.902 28078 chr17 73919538 73919538 G A rs7218738 FBF1 Nonsynonymous SNV P385S 0.075 0.083 0.095 41 88 32 0.105 28 1 1 3 2 5.152 28079 chr19 55526359 55526359 A T rs1654413 GP6 Nonsynonymous SNV L299Q 0.824 0.807 0.806 330 967 310 0.846 237 397 128 96 139 Benign 0.004 28080 chr7 32613020 32613020 A G rs1993050 AVL9 Synonymous SNV T520T 0.593 0.576 0.636 214 696 221 0.549 187 210 68 56 58 0.865 28081 chr17 6386947 6386947 G A rs34897053 PITPNM3 Synonymous SNV S123S 0.031 0.036 0.037 15 36 14 0.038 11 0 0 1 0 Benign 14.93 28082 chr17 78079643 78079643 C T rs1800301 GAA Synonymous SNV S214S 0.27 0.271 0.197 118 317 104 0.303 58 48 13 9 17 Benign 13.13 28083 chr7 33060946 33060946 A G rs3750117 NT5C3A Synonymous SNV Y93Y 0.649 0.667 0.463 284 762 256 0.728 136 248 84 43 105 Benign 2.263 28084 chr17 73893002 73893002 A T TRIM65 Nonsynonymous SNV L6Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 28085 chr19 55526373 55526373 G C rs2304166 GP6 Nonsynonymous SNV P314A 0.566 0.513 0.599 235 665 197 0.603 176 181 53 55 70 Benign 23.2 28086 chr7 33674840 33674840 C - rs34415284 BBS9 Stop gain L859* 0.715 0.727 0 286 839 279 0.733 0 300 101 0 110 28087 chr7 34009946 34009946 C T rs10265207 BMPER Synonymous SNV G136G 0.453 0.427 0.439 182 532 164 0.467 129 112 34 24 40 Benign 19.27 28088 chr19 55527081 55527081 C T rs2304167 GP6 Nonsynonymous SNV A231T 0.824 0.805 0.806 330 967 309 0.846 237 397 127 96 139 Benign 11.85 28089 chr7 34125420 34125420 G T rs77064045 BMPER Synonymous SNV P487P 0.305 0.349 0.367 137 358 134 0.351 108 52 21 18 29 Benign 8.375 28090 chr19 55530035 55530035 C T rs1654416 GP6 Nonsynonymous SNV E219K 0.839 0.826 0.816 330 985 317 0.846 240 414 133 97 139 Benign 3.822 28091 chr17 73997411 73997411 G C TEN1-CDK3 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.294 28092 chr17 78086718 78086718 C T rs746194098 GAA Synonymous SNV A644A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Likely benign 17.07 28093 chr7 34192762 34192762 G C rs6968741 BMPER Synonymous SNV T645T 0.911 0.906 0.932 355 1069 348 0.91 274 487 156 129 161 Benign 8.474 28094 chr17 73987652 73987652 C T rs10852767 TEN1 Synonymous SNV H66H 0.068 0.065 0.088 20 80 25 0.051 26 4 1 3 1 14.08 28095 chr17 78087028 78087028 G A rs546463058 GAA Synonymous SNV P684P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.734 28096 chr19 55536595 55536595 G A rs1613662 GP6 Nonsynonymous SNV P219S 0.834 0.797 0.82 331 979 306 0.849 241 409 124 97 140 Benign 0.003 28097 chr17 78087109 78087109 A G rs1800310 GAA Synonymous SNV T711T 0.336 0.318 0.279 135 395 122 0.346 82 67 17 14 21 Benign 0.019 28098 chr7 34818113 34818113 A T rs324981 NPSR1 Nonsynonymous SNV N96I 0.422 0.424 0.476 184 496 163 0.472 140 110 30 34 35 risk factor 0.407 28099 chr19 55538980 55538980 T C rs1654425 GP6 Synonymous SNV S192S 0.835 0.802 0.82 329 980 308 0.844 241 410 126 97 138 Benign 7.249 28100 chr19 55539061 55539061 A G rs892089 GP6 Synonymous SNV F165F 0.83 0.794 0.799 328 975 305 0.841 235 406 123 92 137 Benign 6.154 28101 chr17 74003463 74003463 G A rs17886642 EVPL Synonymous SNV T1963T 0.063 0.06 0.065 18 74 23 0.046 19 4 1 2 1 3.729 28102 chr7 34851393 34851393 C G rs9655357 NPSR1 Synonymous SNV L121L 0.162 0.133 0.143 73 190 51 0.187 42 17 2 2 7 12.69 28103 chr19 55539072 55539072 T G rs892090 GP6 Synonymous SNV R162R 0.835 0.794 0.82 329 980 305 0.844 241 410 123 97 138 Benign 10.28 28104 chr17 74003805 74003805 G A rs7342882 EVPL Synonymous SNV I1849I 0.07 0.065 0.088 19 82 25 0.049 26 4 1 3 1 7.878 28105 chr7 34874038 34874038 C G rs727162 NPSR1 Nonsynonymous SNV S175R 0.232 0.255 0.235 92 272 98 0.236 69 31 12 6 11 24.2 28106 chr19 55559715 55559715 G A rs2305543 RDH13 Synonymous SNV L214L 0.308 0.352 0.259 134 362 135 0.344 76 54 21 9 23 17.3 28107 chr17 7405937 7405937 C T rs2071504 POLR2A Synonymous SNV Y891Y 0.078 0.086 0.105 25 91 33 0.064 31 4 2 0 1 14.59 28108 chr17 74003846 74003846 G A rs7342883 EVPL Nonsynonymous SNV P1836S 0.07 0.063 0.088 19 82 24 0.049 26 4 1 3 1 5.238 28109 chr19 55570574 55570574 A G rs1654447 RDH13 Synonymous SNV G45G 0.839 0.797 0.82 327 985 306 0.838 241 411 123 97 137 4.941 28110 chr19 55587822 55587822 G A rs12609976 EPS8L1 Nonsynonymous SNV A4T 0.2 0.188 0.207 79 235 72 0.203 61 27 6 6 7 8.811 28111 chr7 35293193 35293193 A G rs336283 TBX20 Synonymous SNV S13S 0.712 0.69 0.711 267 836 265 0.685 209 307 94 81 90 Benign 11.21 28112 chr17 74005476 74005476 G A rs7225323 EVPL Synonymous SNV I1292I 0.07 0.065 0.088 19 82 25 0.049 26 4 1 3 1 13.6 28113 chr19 55594996 55594996 C G rs1628576 EPS8L1 Nonsynonymous SNV Q330E 0.239 0.242 0.255 91 280 93 0.233 75 34 11 6 8 9.291 28114 chr7 35709842 35709842 C T rs3779234 HERPUD2 Nonsynonymous SNV A108T 0.473 0.458 0.422 169 555 176 0.433 124 133 42 28 36 17.78 28115 chr17 74005611 74005611 G A rs75019874 EVPL Synonymous SNV S1247S 0.042 0.044 0.048 14 49 17 0.036 14 2 0 1 1 1.774 28116 chr19 55598724 55598724 A G rs1054940 EPS8L1 Nonsynonymous SNV K542R 0.537 0.531 0.493 214 630 204 0.549 145 167 55 37 51 32 28117 chr7 36320821 36320821 G A rs196586 EEPD1 Nonsynonymous SNV S343N 0.994 0.995 0.98 385 1167 382 0.987 288 581 190 141 190 9.133 28118 chr17 78272294 78272294 C T rs72849841 RNF213 Nonsynonymous SNV P729L 0.138 0.156 0.16 59 162 60 0.151 47 13 6 2 3 10.39 28119 chr19 5561076 5561076 A G rs8113645 TINCR 0 0 0.728 0 0 0 0 214 0 0 78 0 3.318 28120 chr19 55644325 55644325 A C rs890868 TNNT1 Synonymous SNV R238R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 8.288 28121 chr17 78298926 78298926 G A rs61359568 RNF213 Nonsynonymous SNV A1041T 0.064 0.065 0.065 31 75 25 0.079 19 2 0 0 1 6.56 28122 chr19 55658387 55658387 T C rs112562759 TNNT1 Nonsynonymous SNV E12G 0.084 0.091 0.068 29 99 35 0.074 20 7 2 1 1 Benign/Likely benign 18.28 28123 chr7 36338749 36338749 T C rs196613 EEPD1 Synonymous SNV D548D 0.995 0.99 0.983 389 1168 380 0.997 289 582 189 142 194 0.178 28124 chr17 74381555 74381555 G A rs2247856 SPHK1 Nonsynonymous SNV A30T 0.187 0.203 0.231 91 219 78 0.233 68 70 23 21 27 20.5 28125 chr19 55671337 55671337 C T rs890872 DNAAF3 Nonsynonymous SNV D432N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Likely benign 7.097 28126 chr7 36438709 36438709 C G rs3735400 ANLN Nonsynonymous SNV S65W 0.093 0.076 0.082 44 109 29 0.113 24 5 2 1 3 29.7 28127 chr17 76802344 76802344 C T rs34121152 USP36 Nonsynonymous SNV G704S 0.012 0.016 0.003 5 14 6 0.013 1 0 0 0 0 20.7 28128 chr19 55671374 55671374 C T rs891187 DNAAF3 Synonymous SNV P419P 0.249 0.247 0.19 71 292 95 0.182 56 51 12 3 4 Benign/Likely benign 12.38 28129 chr7 36445856 36445856 G A rs197367 ANLN Nonsynonymous SNV R185K 0.596 0.581 0.558 221 700 223 0.567 164 217 68 51 57 Benign 0.117 28130 chr17 76803659 76803659 T C rs3744795 USP36 Nonsynonymous SNV I489M 0.021 0.021 0.02 6 25 8 0.015 6 1 0 0 0 12.96 28131 chr19 55693244 55693244 T C rs2288419 PTPRH Nonsynonymous SNV I898V 0.295 0.279 0.228 100 346 107 0.256 67 58 12 4 10 20.7 28132 chr17 60743483 60743483 C A MRC2 Nonsynonymous SNV H183Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 28133 chr7 36446121 36446121 A G rs3735398 ANLN Synonymous SNV L273L 0.095 0.073 0.082 44 112 28 0.113 24 5 2 1 3 7.831 28134 chr17 650183 650183 C T rs758393066 GEMIN4 Nonsynonymous SNV S367N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.003 28135 chr19 55697712 55697712 G A rs147881000 PTPRH Stop gain Q709X 0.014 0.013 0.017 7 17 5 0.018 5 0 0 0 0 36 28136 chr17 60753760 60753760 G A rs138970713 MRC2 Nonsynonymous SNV V568I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.008 28137 chr6 160198395 160198395 G A rs3465 ACAT2 Synonymous SNV G302G 0.383 0.375 0.425 149 450 144 0.382 125 89 26 23 24 13.52 28138 chr7 36447349 36447349 - CTT rs61549495 ANLN S295_P296insS 0.423 0.422 0.33 150 497 162 0.385 97 107 35 17 27 28139 chr17 74464837 74464837 G A rs72466443 AANAT Synonymous SNV T3T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 4.868 28140 chr17 76867017 76867017 C T rs2277698 TIMP2 Synonymous SNV S101S 0.147 0.135 0.136 43 172 52 0.11 40 13 4 2 3 21.3 28141 chr17 74163759 74163759 G A rs61744818 RNF157 Nonsynonymous SNV T139M 0.039 0.036 0.024 9 46 14 0.023 7 1 1 1 0 12.79 28142 chr19 55699454 55699454 T C rs890870 PTPRH Nonsynonymous SNV K645E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.426 28143 chr7 36455477 36455477 T C rs10224902 ANLN Synonymous SNV S502S 0.095 0.073 0.078 41 111 28 0.105 23 5 2 1 3 0.046 28144 chr7 36763672 36763672 C T rs2228410 AOAH Nonsynonymous SNV D28N 0.328 0.302 0.333 129 385 116 0.331 98 54 16 16 17 0.013 28145 chr19 55708557 55708557 A G rs2288521 PTPRH Synonymous SNV L462L 0.745 0.734 0.684 275 875 282 0.705 201 325 106 70 97 0.189 28146 chr17 7132460 7132460 A G rs148777337 DVL2 Synonymous SNV L317L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 1.583 28147 chr17 76972231 76972231 G A rs11548454 LGALS3BP Synonymous SNV N20N 0.064 0.065 0.058 23 75 25 0.059 17 1 0 0 0 5.576 28148 chr19 55738634 55738634 T C rs4644955 TMEM86B Nonsynonymous SNV H198R 0.932 0.945 0.922 374 1094 363 0.959 271 510 172 124 180 0.001 28149 chr7 37907304 37907304 T C rs10250905 NME8 Nonsynonymous SNV C208R 0.797 0.794 0.782 311 936 305 0.797 230 377 121 92 125 Benign 22.5 28150 chr17 76973249 76973249 C T rs55974249 LGALS3BP Nonsynonymous SNV V9M 0.014 0.016 0.007 0 16 6 0 2 0 0 0 0 7.155 28151 chr19 55739689 55739689 G A rs10413828 TMEM86B Synonymous SNV P55P 0.33 0.359 0.449 145 388 138 0.372 132 66 18 27 30 11.59 28152 chr19 55756980 55756980 A G rs3745920 PPP6R1 Synonymous SNV A98A 0.363 0.404 0.371 162 426 155 0.415 109 68 30 22 30 7.615 28153 chr7 37936530 37936530 T C rs3213975 NME8 Synonymous SNV L535L 0.212 0.221 0.269 114 249 85 0.292 79 20 11 19 20 Benign 0.051 28154 chr17 76993546 76993546 A G rs8077024 CANT1 Synonymous SNV A53A 0.271 0.292 0.259 122 318 112 0.313 76 53 18 12 15 Benign 0.049 28155 chr19 55790886 55790886 - GCCGCCGCC rs10701478 HSPBP1 G76_S77insGGG 0.423 0.443 0.405 150 497 170 0.385 119 111 31 23 32 28156 chr7 37947164 37947164 G T rs1802073 SFRP4 Nonsynonymous SNV P320T 0.418 0.367 0.422 140 491 141 0.359 124 102 31 27 26 7.303 28157 chr17 74729691 74729691 G A rs138247613 METTL23 Nonsynonymous SNV D99N 0.025 0.016 0.014 14 29 6 0.036 4 0 0 0 0 Benign 20.9 28158 chr19 55791091 55791091 C T rs62126354 HSPBP1 Synonymous SNV L8L 0.524 0.51 0.49 176 615 196 0.451 144 156 43 34 40 10.12 28159 chr17 77081788 77081788 G A rs4789879 ENGASE Nonsynonymous SNV S596N 0.106 0.12 0.105 44 124 46 0.113 31 5 2 2 3 0.01 28160 chr19 55824332 55824332 T G rs7246479 TMEM150B Nonsynonymous SNV L199F 0.484 0.526 0.544 186 568 202 0.477 160 140 53 39 51 0.001 28161 chr7 37951726 37951726 G A rs1132553 SFRP4 Synonymous SNV R262R 0.551 0.607 0.565 241 647 233 0.618 166 185 76 47 77 6.326 28162 chr17 78335610 78335610 G A rs61741791 RNF213 Synonymous SNV P3759P 0.08 0.073 0.071 39 94 28 0.1 21 5 0 0 1 10.84 28163 chr17 61498500 61498500 C T rs117474655 TANC2 Synonymous SNV R1719R 0.02 0.013 0.017 10 23 5 0.026 5 0 0 0 0 6.126 28164 chr7 37953840 37953840 C T rs1132552 SFRP4 Synonymous SNV T189T 0.445 0.391 0.432 145 522 150 0.372 127 121 35 28 31 15.59 28165 chr17 71747284 71747284 G A rs78599382 LOC100134391 0.044 0.055 0.051 18 52 21 0.046 15 2 1 0 3 1.984 28166 chr19 55869880 55869903 GCTCCTTCATCTCGCCCCATGGCT - rs67168196 FAM71E2 Q778_E785del 0.857 0.815 0.837 347 1006 313 0.89 246 431 127 105 153 28167 chr17 74392666 74392666 G A rs145605062 UBE2O Synonymous SNV A784A 0.011 0.013 0.007 5 13 5 0.013 2 1 0 0 0 Benign 11.85 28168 chr17 61558936 61558936 G T rs34126458 ACE Nonsynonymous SNV A319S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.4 28169 chr7 37961001 37961001 C A rs10248138 EPDR1 Synonymous SNV R12R 0.176 0.143 0.156 62 207 55 0.159 46 17 7 6 3 10.83 28170 chr19 55869892 55869892 C T rs28420516 FAM71E2 Nonsynonymous SNV E782K 0.102 0.125 0.129 25 120 48 0.064 38 4 3 5 1 22.4 28171 chr17 7733663 7733663 C T rs149406306 DNAH2 Nonsynonymous SNV P3967S 0.016 0.005 0.01 5 19 2 0.013 3 0 0 0 0 Benign 0.538 28172 chr17 78337584 78337584 A G rs61740658 RNF213 Nonsynonymous SNV E3915G 0.106 0.099 0.112 48 124 38 0.123 33 9 1 3 2 12.44 28173 chr7 37988589 37988589 C T rs2044831 EPDR1 Synonymous SNV I78I 0.778 0.729 0.793 293 913 280 0.751 233 356 104 92 111 19.52 28174 chr19 55869903 55869903 T C rs28712579 FAM71E2 Nonsynonymous SNV Q778R 0.102 0.125 0.129 25 120 48 0.064 38 4 3 5 1 0.847 28175 chr7 38765883 38765883 C T rs1059508 VPS41 Nonsynonymous SNV R818H 0.021 0.029 0.017 12 25 11 0.031 5 0 0 0 0 32 28176 chr17 7478498 7478498 G A rs7358 EIF4A1 Synonymous SNV S89S 0.106 0.117 0.095 47 125 45 0.121 28 7 1 0 2 12.77 28177 chr17 78346830 78346830 G A rs116948489 RNF213 Synonymous SNV R4269R 0.081 0.073 0.075 39 95 28 0.1 22 5 0 1 1 1.948 28178 chr17 71752005 71752005 C T rs74440468 LOC100134391 0.043 0.055 0.048 18 51 21 0.046 14 1 1 0 3 5.923 28179 chr19 55870104 55870104 G C rs12974819 FAM71E2 Nonsynonymous SNV P711R 0.96 0.94 0.969 372 1127 361 0.954 285 543 169 139 177 0.001 28180 chr7 38829465 38829465 C T rs1001476 VPS41 Synonymous SNV V215V 0.095 0.07 0.082 39 112 27 0.1 24 4 0 1 2 13.31 28181 chr17 78363847 78363847 G A rs3185057 RNF213 Synonymous SNV A5107A 0.095 0.094 0.112 45 111 36 0.115 33 8 1 3 2 10.97 28182 chr7 39649275 39649275 G A rs4723884 YAE1 Nonsynonymous SNV G104E 0.164 0.198 0.197 60 192 76 0.154 58 13 10 9 6 0.373 28183 chr19 55870289 55870289 C T rs12974907 FAM71E2 Synonymous SNV A649A 0.858 0.815 0.837 347 1007 313 0.89 246 432 127 105 153 10.84 28184 chr19 55870351 55870351 T C rs12976922 FAM71E2 Nonsynonymous SNV K629E 0.858 0.815 0.837 347 1007 313 0.89 246 432 127 105 153 0.481 28185 chr17 78403906 78403906 C G rs41301878 ENDOV Nonsynonymous SNV Q302E 0.1 0.107 0.116 46 117 41 0.118 34 9 2 1 2 2.978 28186 chr7 39649456 39649456 G C rs4723885 YAE1 Synonymous SNV R164R 0.164 0.198 0.197 61 192 76 0.156 58 13 10 9 6 0.286 28187 chr17 61611276 61611276 G A rs143700601 KCNH6 Synonymous SNV P235P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.247 28188 chr7 40314165 40314165 G A rs12669315 SUGCT Synonymous SNV L217L 0.335 0.328 0.313 155 393 126 0.397 92 66 25 22 29 Benign 9.172 28189 chr17 7843053 7843053 C T rs11078719 CNTROB Synonymous SNV L384L 0.375 0.307 0.357 133 440 118 0.341 105 87 19 22 18 1.892 28190 chr19 55870600 55870600 C G rs12460416 FAM71E2 Nonsynonymous SNV E546Q 0.96 0.94 0.969 372 1127 361 0.954 285 543 169 139 177 0.036 28191 chr17 74928764 74928764 C T rs141461687 MGAT5B Synonymous SNV S454S 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 18.9 28192 chr17 77768696 77768696 T C rs61758361 CBX8 Nonsynonymous SNV N303S 0.026 0.023 0.01 9 30 9 0.023 3 0 0 0 0 0.001 28193 chr17 74944151 74944151 C T rs71384132 MGAT5B Synonymous SNV S730S 0.129 0.115 0.153 50 152 44 0.128 45 11 2 6 1 15.97 28194 chr7 40314243 40314243 A G rs4637704 SUGCT Synonymous SNV L243L 0.324 0.323 0.31 111 380 124 0.285 91 65 17 13 17 Benign 8.477 28195 chr19 55871019 55871019 A G rs12609732 FAM71E2 Nonsynonymous SNV L406P 0.961 0.94 0.969 372 1128 361 0.954 285 544 169 139 177 0.002 28196 chr7 40899967 40899967 G C rs2010706 SUGCT Synonymous SNV P361P 0.461 0.458 0.446 170 541 176 0.436 131 123 51 27 38 Benign 13.7 28197 chr19 55872397 55872397 A G rs2124918 FAM71E2 Synonymous SNV A243A 0.964 0.943 0.973 373 1132 362 0.956 286 548 170 140 178 0.126 28198 chr17 77925393 77925393 G A rs35286723 TBC1D16 Synonymous SNV D315D 0.127 0.125 0.099 38 149 48 0.097 29 8 2 2 1 12.27 28199 chr6 160858188 160858188 G A rs2292334 SLC22A3 Synonymous SNV A411A 0.255 0.26 0.259 95 299 100 0.244 76 37 14 12 11 12.14 28200 chr19 55872566 55872566 A G rs2124919 FAM71E2 Synonymous SNV A210A 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.062 28201 chr7 42088222 42088222 T C rs846266 GLI3 Nonsynonymous SNV T183A 0.553 0.534 0.51 181 649 205 0.464 150 184 56 39 46 Benign 2.413 28202 chr19 55873642 55873642 C T rs4252574 FAM71E2 Nonsynonymous SNV E179K 0.833 0.786 0.813 339 978 302 0.869 239 421 124 101 150 0.007 28203 chr17 7559144 7559144 C G ATP1B2 Nonsynonymous SNV I186M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 28204 chr7 42951515 42951515 G A rs647117 C7orf25 Nonsynonymous SNV P51L 0.664 0.685 0.565 243 779 263 0.623 166 283 98 60 81 15.25 28205 chr6 160953642 160953642 A G rs41267809 LPA Nonsynonymous SNV L1961P 0.05 0.044 0.048 18 59 17 0.046 14 2 0 0 0 2.003 28206 chr19 55895588 55895588 G A rs1870074 TMEM238 Nonsynonymous SNV P14S 0.526 0.43 0.643 188 617 165 0.482 189 286 77 76 89 Benign 0.157 28207 chr17 7847955 7847955 C A rs11650083 CNTROB Nonsynonymous SNV P578Q 0.409 0.359 0.408 145 480 138 0.372 120 99 24 27 19 4.243 28208 chr17 74738299 74738299 G A rs117140732 MFSD11 Synonymous SNV S127S 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 14.24 28209 chr17 72340981 72340981 G A rs34016821 KIF19 Nonsynonymous SNV A222T 0.007 0.013 0.003 1 8 5 0.003 1 0 0 0 0 Likely benign 29.8 28210 chr19 55899602 55899602 C T rs56312243 MIR6805 0.053 0.107 0.099 21 62 41 0.054 29 0 1 1 2 7.329 28211 chr7 42977091 42977091 G A rs631132 MRPL32 Synonymous SNV T161T 0.782 0.786 0.776 303 918 302 0.777 228 359 120 88 117 8.388 28212 chr17 7849087 7849087 C G rs4462665 CNTROB Synonymous SNV P592P 0.408 0.354 0.408 145 479 136 0.372 120 99 24 27 19 9.133 28213 chr17 7484782 7484782 G A rs17607 CD68 Nonsynonymous SNV A313T 0.035 0.031 0.01 10 41 12 0.026 3 2 0 0 0 17.86 28214 chr19 55902941 55902941 G A rs45448592 RPL28 Nonsynonymous SNV G115E 0.053 0.107 0.122 21 62 41 0.054 36 0 1 1 2 1.68 28215 chr7 43484310 43484310 T C rs73098706 HECW1 Synonymous SNV S513S 0.438 0.424 0.459 172 514 163 0.441 135 109 39 33 34 0.628 28216 chr7 43484626 43484626 G A rs1049982807 HECW1 Nonsynonymous SNV E619K 0.004 0 0 0 5 0 0 0 0 0 0 0 1.598 28217 chr17 7851278 7851278 C T rs74595649 CNTROB Synonymous SNV D730D 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 6 28218 chr19 55912946 55912946 T G rs61748180 UBE2S Nonsynonymous SNV E176A 0.111 0.128 0.16 38 130 49 0.097 47 5 1 2 3 Benign 0.402 28219 chr6 161007496 161007496 G C rs7765781 LPA Nonsynonymous SNV L1372V 0.344 0.326 0.344 125 404 125 0.321 101 74 21 20 18 0.002 28220 chr17 7578210 7578210 T C rs1800372 TP53 Synonymous SNV R81R 0.039 0.042 0.034 13 46 16 0.033 10 1 1 0 0 Benign 8.925 28221 chr17 78599562 78599562 C G rs17848685 RPTOR Synonymous SNV T78T 0.254 0.279 0.245 88 298 107 0.226 72 39 14 11 10 13.84 28222 chr7 43506059 43506059 A G rs2304329 HECW1 Synonymous SNV E901E 0.714 0.711 0.718 280 838 273 0.718 211 295 98 74 99 8.466 28223 chr17 7496839 7496839 G A rs118174079 FXR2 Synonymous SNV S404S 0.006 0.013 0.02 6 7 5 0.015 6 0 0 0 0 8.294 28224 chr17 78854223 78854223 A G rs2289759 RPTOR Synonymous SNV Q506Q 0.272 0.276 0.262 108 319 106 0.277 77 41 15 11 20 0.436 28225 chr6 161007538 161007538 G C rs7765803 LPA Nonsynonymous SNV L1358V 0.344 0.326 0.344 125 404 125 0.321 101 74 21 20 18 0.001 28226 chr19 55913038 55913038 C T rs7608 UBE2S Synonymous SNV A145A 0.6 0.581 0.67 210 704 223 0.538 197 217 69 67 64 15.96 28227 chr7 43506158 43506158 T C rs2304328 HECW1 Synonymous SNV H934H 0.481 0.487 0.493 209 565 187 0.536 145 144 42 35 55 0.164 28228 chr19 55914444 55914444 T C rs2891577 RPL28 Nonsynonymous SNV L153S 0.07 0.096 0.088 29 82 37 0.074 26 1 1 0 2 0.24 28229 chr7 43548832 43548832 T C rs74368380 LUARIS 0.236 0.258 0.296 119 277 99 0.305 87 48 17 13 20 2.099 28230 chr19 55993260 55993260 A G rs34864744 ZNF628 Nonsynonymous SNV T234A 0.795 0.784 0.755 314 933 301 0.805 222 368 116 94 129 0.001 28231 chr17 76121318 76121318 G A rs12449858 TMC6 Nonsynonymous SNV L153F 0.088 0.076 0.051 32 103 29 0.082 15 7 2 1 0 Benign 25.9 28232 chr17 66899613 66899613 G A rs184161214 ABCA8 Nonsynonymous SNV A769V 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 2.309 28233 chr7 43591832 43591832 G A rs56111512 HECW1 Synonymous SNV S1435S 0.276 0.294 0.262 95 324 113 0.244 77 36 15 11 13 8.428 28234 chr19 55993790 55993790 A G rs7254184 ZNF628 Synonymous SNV E410E 0.584 0.568 0.517 241 686 218 0.618 152 251 78 56 92 0.064 28235 chr7 43647879 43647879 C T rs11555026 STK17A Synonymous SNV D148D 0.228 0.258 0.211 80 268 99 0.205 62 27 16 7 9 12.75 28236 chr19 55993876 55993876 T C rs10423355 ZNF628 Nonsynonymous SNV V439A 0.303 0.237 0.262 130 356 91 0.333 77 169 44 37 62 0.001 28237 chr17 75398600 75398600 C T SEPTIN9 Nonsynonymous SNV P172L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 28238 chr7 43664198 43664198 A G rs10233697 STK17A Synonymous SNV E334E 0.227 0.258 0.211 84 267 99 0.215 62 27 16 7 10 0.028 28239 chr17 7906519 7906519 G T rs61749665 GUCY2D Nonsynonymous SNV A52S 0.279 0.25 0.204 110 328 96 0.282 60 55 16 7 16 Benign 2.603 28240 chr7 43664280 43664280 A G rs1044141 STK17A Nonsynonymous SNV K362E 0.8 0.841 0.799 308 939 323 0.79 235 374 134 96 121 0.004 28241 chr19 55994240 55994240 C T rs12981044 ZNF628 Synonymous SNV H560H 0.48 0.5 0.5 183 563 192 0.469 147 133 47 37 41 5.78 28242 chr19 55995272 55995272 G A rs11550705 ZNF628 Synonymous SNV P904P 0.419 0.474 0.418 173 492 182 0.444 123 108 41 25 35 5.123 28243 chr17 7907189 7907189 C T rs3829789 GUCY2D Synonymous SNV H247H 0.088 0.052 0.095 30 103 20 0.077 28 2 1 5 2 Benign 14.35 28244 chr17 76134237 76134237 G A rs11651675 TMC8 Nonsynonymous SNV V501I 0.058 0.065 0.041 23 68 25 0.059 12 1 1 0 0 Benign 0.01 28245 chr19 56011460 56011460 C T rs4801713 SSC5D Synonymous SNV T661T 0.519 0.552 0.5 198 609 212 0.508 147 154 56 37 45 8.963 28246 chr7 43687075 43687077 GGA - rs143305109 COA1 S58del 0.227 0.258 0.207 83 267 99 0.213 61 27 16 7 10 28247 chr6 161508880 161508880 A C rs35533223 MAP3K4 Nonsynonymous SNV H906P 0.053 0.055 0.031 14 62 21 0.036 9 3 1 0 0 12.19 28248 chr19 56024519 56024519 T C rs671542 SSC5D Nonsynonymous SNV L976P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.007 28249 chr7 43810764 43810764 G A rs699512 BLVRA Nonsynonymous SNV A3T 0.799 0.841 0.806 308 938 323 0.79 237 374 134 98 121 0.265 28250 chr19 56029465 56029465 G A rs4801331 SSC5D Nonsynonymous SNV M1274I 0.948 0.943 0.898 359 1113 362 0.921 264 555 180 131 177 14.41 28251 chr17 7915920 7915920 G A rs56130505 GUCY2D Synonymous SNV A703A 0.063 0.036 0.061 27 74 14 0.069 18 2 0 2 2 Benign 6.389 28252 chr7 43916727 43916727 T G rs2232108 URGCP Nonsynonymous SNV M770L 0.485 0.497 0.452 193 569 191 0.495 133 143 45 28 52 22.9 28253 chr6 165703523 165703523 C T rs17856754 C6orf118 Nonsynonymous SNV R385Q 0.034 0.052 0.01 13 40 20 0.033 3 0 0 0 0 9.034 28254 chr17 76171687 76171687 C T rs1132543 TK1 Nonsynonymous SNV V106M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 28255 chr19 56041255 56041255 C G rs620251 SBK2 Nonsynonymous SNV A298P 0.987 0.995 0.959 385 1159 382 0.987 282 573 190 139 191 0.017 28256 chr7 43917013 43917013 G A rs2232105 URGCP Synonymous SNV H674H 0.484 0.497 0.449 193 568 191 0.495 132 143 45 28 52 0.128 28257 chr6 165706935 165706935 C G rs9459350 C6orf118 Nonsynonymous SNV V363L 0.037 0.052 0.044 13 43 20 0.033 13 0 0 0 0 0.089 28258 chr19 56047448 56047448 A G rs310453 SBK2 Nonsynonymous SNV C72R 0.888 0.885 0.895 337 1042 340 0.864 263 461 154 117 148 11.27 28259 chr17 72556883 72556883 A G rs572530310 CD300H Nonsynonymous SNV L188P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 7.084 28260 chr7 43917274 43917274 A G rs2232103 URGCP Synonymous SNV H587H 0.729 0.75 0.707 273 856 288 0.7 208 304 108 74 96 0.001 28261 chr17 76060866 76060866 C G rs34293811 TNRC6C Nonsynonymous SNV P817R 0.129 0.104 0.109 44 152 40 0.113 32 9 0 1 3 23.9 28262 chr17 76230729 76230729 T C rs11077350 TMEM235 Synonymous SNV C82C 0.468 0.427 0.439 175 549 164 0.449 129 117 33 26 41 0.008 28263 chr7 43982341 43982341 G C rs2074728 POLR2J4 0.338 0.37 0.296 149 397 142 0.382 87 69 24 12 33 2.097 28264 chr17 79172711 79172711 G A rs147729628 CEP131 Nonsynonymous SNV P418L 0.02 0.029 0.007 7 24 11 0.018 2 0 0 0 0 17.34 28265 chr6 165713917 165713917 C T rs17852379 C6orf118 Nonsynonymous SNV G271E 0.035 0.047 0.034 12 41 18 0.031 10 0 0 0 0 23.3 28266 chr19 56052337 56052337 - C rs397738405 SBK3, SBK3 Frameshift insertion F319Vfs*42 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 28267 chr7 43982482 43982482 A C rs2074727 POLR2J4 0.374 0.414 0.391 167 439 159 0.428 115 86 31 15 42 7.369 28268 chr19 56052770 56052770 C T rs654439 SBK3 Synonymous SNV P174P 0.897 0.87 0.878 338 1053 334 0.867 258 472 148 112 146 13.05 28269 chr17 78178893 78178893 C T rs11652075 CARD14 Nonsynonymous SNV R820W 0.44 0.435 0.323 161 516 167 0.413 95 116 34 16 32 Benign 25.8 28270 chr7 44147485 44147485 C A rs2537188 AEBP1 Nonsynonymous SNV P273T 0.337 0.318 0.299 133 396 122 0.341 88 70 18 17 26 6.6 28271 chr17 7917279 7917279 T A rs8069344 GUCY2D Nonsynonymous SNV L782H 0.1 0.081 0.116 39 117 31 0.1 34 2 1 4 2 Benign 14.27 28272 chr19 56056184 56056184 A G rs491639 SBK3 Synonymous SNV L59L 0.902 0.867 0.793 337 1059 333 0.864 233 481 150 106 147 1.26 28273 chr19 56089353 56089353 C T rs2292812 ZNF579 Synonymous SNV K551K 0.618 0.656 0.629 245 725 252 0.628 185 226 85 55 71 12.06 28274 chr17 76229983 76229983 C T rs61730389 TMEM235 Synonymous SNV N66N 0.161 0.135 0.133 50 189 52 0.128 39 16 6 2 4 12.19 28275 chr17 76113954 76113954 G A rs2613516 TMC6 Synonymous SNV T650T 0.147 0.125 0.146 64 173 48 0.164 43 14 2 0 4 16.41 28276 chr17 78178931 78178931 C T rs139789664 CARD14 Synonymous SNV L832L 0.008 0.016 0.003 2 9 6 0.005 1 0 0 0 0 Benign 18.43 28277 chr19 56089908 56089908 - CCG rs10643219 ZNF579 G366_Q367insG 0.62 0.674 0.629 249 728 259 0.638 185 229 88 57 75 28278 chr7 44148553 44148553 A G rs2595701 AEBP1 Synonymous SNV T332T 0.675 0.669 0.68 255 792 257 0.654 200 267 86 73 83 2.57 28279 chr6 165715460 165715460 G C rs9459355 C6orf118 Synonymous SNV A117A 0.131 0.154 0.18 40 154 59 0.103 53 12 8 6 2 0.089 28280 chr19 56089947 56089947 C G rs10403008 ZNF579 Nonsynonymous SNV E353D 0.323 0.344 0.327 120 379 132 0.308 96 66 23 14 21 9.382 28281 chr17 76230693 76230693 T G rs79885699 TMEM235 Nonsynonymous SNV I70M 0.166 0.143 0.143 53 195 55 0.136 42 16 6 2 4 10.97 28282 chr6 165715673 165715673 A G rs9459356 C6orf118 Synonymous SNV N46N 0.131 0.154 0.184 40 154 59 0.103 54 12 8 6 2 0.015 28283 chr7 44153780 44153780 A G rs13928 AEBP1 Nonsynonymous SNV K1133E 0.497 0.505 0.507 185 583 194 0.474 149 137 56 41 44 0.282 28284 chr19 56090076 56090076 G T rs34164618 ZNF579 Synonymous SNV A310A 0.31 0.344 0.337 116 364 132 0.297 99 59 23 14 18 7.503 28285 chr6 165832227 165832227 C T rs220740 PDE10A Synonymous SNV A298A 0.432 0.396 0.388 154 507 152 0.395 114 111 29 28 31 16.44 28286 chr19 56104136 56104136 T C rs7247236 FIZ1 Nonsynonymous SNV T391A 0.811 0.813 0.799 330 952 312 0.846 235 398 131 94 140 0.001 28287 chr7 44153825 44153825 G A rs13898 AEBP1 Nonsynonymous SNV V1148I 0.018 0.023 0.01 7 21 9 0.018 3 0 0 0 0 17.21 28288 chr17 76464933 76464933 G A rs369953384 DNAH17 Synonymous SNV A2848A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 28289 chr19 56114045 56114045 C T rs1077806 ZNF524 Synonymous SNV H189H 0.468 0.427 0.49 171 549 164 0.438 144 122 37 36 39 9.846 28290 chr17 79176110 79176110 C T rs148701919 CEP131 Nonsynonymous SNV A240T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 3.972 28291 chr7 44259706 44259706 G A rs1065359 CAMK2B Synonymous SNV N435N 0.34 0.393 0.35 123 399 151 0.315 103 69 28 18 16 11.46 28292 chr19 56114237 56114237 G A rs310459 ZNF524 Synonymous SNV E253E 0.886 0.867 0.888 354 1040 333 0.908 261 459 146 114 161 1.006 28293 chr6 166580188 166580188 G A rs1056048 TBXT Synonymous SNV S121S 0.197 0.19 0.18 82 231 73 0.21 53 21 7 9 9 10.72 28294 chr19 56162776 56162776 C T rs2287791 CCDC106 Synonymous SNV S112S 0.899 0.896 0.799 353 1055 344 0.905 235 487 161 112 163 11.93 28295 chr7 44259871 44259871 C T rs1127065 CAMK2B Synonymous SNV P380P 0.345 0.396 0.34 124 405 152 0.318 100 70 28 18 16 15.91 28296 chr19 56241265 56241265 A G rs193384 NLRP9 Synonymous SNV L642L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.075 28297 chr7 44282868 44282868 A G rs11542228 CAMK2B Synonymous SNV P194P 0.552 0.529 0.497 208 648 203 0.533 146 177 56 41 54 2.712 28298 chr19 56249672 56249672 A G rs56211941 NLRP9 Synonymous SNV F23F 0.229 0.208 0.248 86 269 80 0.221 73 23 7 9 12 4.841 28299 chr17 79244802 79244802 T C rs2292184 SLC38A10 Synonymous SNV T349T 0.401 0.411 0.367 174 471 158 0.446 108 89 33 21 47 3.058 28300 chr7 44282877 44282877 A G rs11542227 CAMK2B Synonymous SNV Y191Y 0.457 0.435 0.391 161 537 167 0.413 115 121 36 29 29 3.651 28301 chr17 6381945 6381945 G A rs149964592 PITPNM3 Synonymous SNV V197V 0.017 0.023 0.01 6 20 9 0.015 3 0 0 0 0 Benign/Likely benign 8.577 28302 chr19 56307583 56307583 A G rs2616940 NLRP11 Synonymous SNV C636C 0.618 0.599 0.605 248 726 230 0.636 178 229 65 52 78 0.004 28303 chr17 79255998 79255998 G A rs10871494 SLC38A10 Synonymous SNV F164F 0.116 0.128 0.088 42 136 49 0.108 26 6 4 1 2 13.83 28304 chr7 44364970 44364970 G A rs150540739 CAMK2B Synonymous SNV Y17Y 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 11.04 28305 chr19 56321414 56321414 C A rs299163 NLRP11 Nonsynonymous SNV A89S 0.942 0.94 0.942 370 1106 361 0.949 277 519 171 131 175 0.008 28306 chr17 76230025 76230025 G A rs9894186 TMEM235 Synonymous SNV L80L 0.06 0.052 0.054 23 71 20 0.059 16 4 1 1 1 1.739 28307 chr7 44444122 44444122 G A rs11550029 NUDCD3 Nonsynonymous SNV R235C 0.139 0.151 0.143 58 163 58 0.149 42 14 6 5 4 26.7 28308 chr17 79358760 79358760 A T rs7218973 LOC100130370 0.279 0.307 0 125 327 118 0.321 0 74 22 0 30 0.117 28309 chr19 56369189 56369189 G A rs441827 NLRP4 Nonsynonymous SNV A144T 0.353 0.331 0.361 141 415 127 0.362 106 73 21 18 27 0.001 28310 chr17 7942901 7942901 C G rs76589243 ALOX15B Synonymous SNV T115T 0.195 0.216 0.129 94 229 83 0.241 38 64 24 11 25 9.604 28311 chr7 44530193 44530193 T G rs307007 NUDCD3 Nonsynonymous SNV T3P 0.184 0.214 0.187 93 216 82 0.238 55 24 10 7 9 0.345 28312 chr19 56369215 56369215 C T rs395503 NLRP4 Synonymous SNV I152I 0.353 0.331 0.361 140 415 127 0.359 106 73 21 18 26 9.559 28313 chr19 56369593 56369593 T C rs421810 NLRP4 Synonymous SNV A278A 0.411 0.375 0.408 150 482 144 0.385 120 98 24 25 33 0.245 28314 chr7 44553238 44553238 A G rs217434 NPC1L1 Synonymous SNV V1269V 0.17 0.195 0.167 64 200 75 0.164 49 18 8 7 5 Benign 0.556 28315 chr19 56370166 56370166 C T rs379327 NLRP4 Synonymous SNV H469H 0.125 0.112 0.129 49 147 43 0.126 38 14 2 3 3 3.358 28316 chr17 78327229 78327229 C A rs11655038 RNF213-AS1 0.054 0.07 0.095 30 63 27 0.077 28 1 1 2 0 7.775 28317 chr19 56390237 56390237 A T rs302453 NLRP4 Nonsynonymous SNV Q925L 0.279 0.307 0.238 106 327 118 0.272 70 45 21 11 13 0.015 28318 chr7 44555406 44555406 G A rs10264715 NPC1L1 Synonymous SNV Y1264Y 0.164 0.164 0.167 74 192 63 0.19 49 17 7 6 8 Benign 6.464 28319 chr17 72889676 72889676 - GGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC FADS6 P15_A16insTEPMEPTEPMEPTEPMEPTEPMEPTEPMEP 0.013 0.021 0.007 4 15 8 0.01 2 1 1 1 0 28320 chr7 44579180 44579180 G C rs2072183 NPC1L1 Synonymous SNV L272L 0.177 0.174 0.211 76 208 67 0.195 62 14 7 7 10 Benign 0.142 28321 chr17 7290695 7290695 A G rs7220814 TNK1 0.07 0.063 0.037 22 82 24 0.056 11 3 0 0 0 20.2 28322 chr17 78327745 78327745 C T rs11656211 RNF213-AS1 0.046 0.065 0.102 28 54 25 0.072 30 1 2 2 0 6.264 28323 chr19 56392875 56392875 T G rs302456 NLRP4 Synonymous SNV L969L 0.32 0.354 0.286 118 376 136 0.303 84 59 29 16 15 0.117 28324 chr17 78346870 78346870 C A rs62077764 RNF213 Nonsynonymous SNV L4283I 0.054 0.06 0.071 29 63 23 0.074 21 2 0 0 0 23.1 28325 chr7 44606098 44606098 C T rs6656 DDX56 Synonymous SNV V465V 0.606 0.622 0.67 246 712 239 0.631 197 227 72 63 73 14.13 28326 chr19 56413532 56413532 G A rs7258847 NLRP13 Synonymous SNV H886H 0.253 0.237 0.231 95 297 91 0.244 68 37 10 6 10 0.178 28327 chr17 79526402 79526402 G C rs4073997 NPLOC4 Synonymous SNV G575G 0.282 0.273 0.276 111 331 105 0.285 81 51 16 7 17 1.053 28328 chr17 72919024 72919024 G A rs769657993 USH1G Nonsynonymous SNV R49C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 35 28329 chr19 56423254 56423254 G A rs304002 NLRP13 Synonymous SNV H643H 0.463 0.461 0.456 173 544 177 0.444 134 137 39 32 43 1.79 28330 chr7 44612229 44612229 G A rs2289057 DDX56 Synonymous SNV D166D 0.014 0.005 0.037 4 16 2 0.01 11 0 0 0 0 8.054 28331 chr17 79589242 79589242 G A rs6565604 NPLOC4 Synonymous SNV T53T 0.455 0.474 0.486 172 534 182 0.441 143 117 44 37 39 13.75 28332 chr19 56423668 56423668 G A rs304001 NLRP13 Synonymous SNV I505I 0.581 0.596 0.571 225 682 229 0.577 168 202 68 48 62 9.105 28333 chr7 44620836 44620836 C A rs8580 TMED4 Synonymous SNV R71R 0.646 0.654 0.721 258 758 251 0.662 212 252 77 75 79 15.62 28334 chr17 79596811 79596811 C T rs9894429 NPLOC4 Synonymous SNV P12P 0.457 0.479 0.493 173 537 184 0.444 145 118 45 37 39 14.34 28335 chr19 56423692 56423692 C T rs304000 NLRP13 Synonymous SNV T497T 0.583 0.599 0.575 226 685 230 0.579 169 204 69 49 64 11.68 28336 chr17 78355494 78355494 C G rs61745599 RNF213 Nonsynonymous SNV L4649V 0.055 0.068 0.092 29 64 26 0.074 27 2 1 2 0 24.4 28337 chr7 44800176 44800176 G T rs3735478 ZMIZ2 Nonsynonymous SNV L382F 0.249 0.245 0.255 73 292 94 0.187 75 36 9 11 4 22.7 28338 chr19 56423728 56423728 A G rs303999 NLRP13 Synonymous SNV S485S 0.581 0.596 0.571 226 682 229 0.579 168 202 68 48 63 0.028 28339 chr17 79614933 79614936 TAAC - rs10536197 TSPAN10 0.67 0.682 0.673 260 787 262 0.667 198 263 89 73 92 28340 chr6 167709702 167709702 G A rs2235197 UNC93A Stop gain W151X 0.083 0.089 0.051 41 97 34 0.105 15 4 1 0 0 35 28341 chr19 56423893 56423893 G A rs303998 NLRP13 Synonymous SNV T430T 0.58 0.594 0.571 225 681 228 0.577 168 201 68 48 62 10.88 28342 chr17 78363054 78363054 G A rs8072774 RNF213 Nonsynonymous SNV V5028I 0.055 0.068 0.099 29 64 26 0.074 29 2 1 2 0 0.002 28343 chr7 44924627 44924627 A C rs6966024 PURB Synonymous SNV A107A 0.855 0.846 0.837 328 1004 325 0.841 246 434 136 104 136 0.523 28344 chr19 56424443 56424443 T C rs303997 NLRP13 Nonsynonymous SNV Q247R 0.585 0.599 0.571 224 687 230 0.574 168 207 69 48 62 5.086 28345 chr6 167719436 167719436 G A rs2072767 UNC93A Nonsynonymous SNV V250I 0.29 0.255 0.245 93 341 98 0.238 72 39 10 8 13 11.76 28346 chr17 79770740 79770740 C T rs5384 GCGR Synonymous SNV F365F 0.177 0.167 0.126 68 208 64 0.174 37 19 6 4 7 19.34 28347 chr7 45004063 45004063 T C rs7792760 MYO1G Nonsynonymous SNV Q861R 0.827 0.823 0.81 342 971 316 0.877 238 401 135 97 149 0.002 28348 chr19 56459342 56459342 C T rs306507 NLRP8 Nonsynonymous SNV P25L 0.647 0.641 0.626 256 759 246 0.656 184 252 79 58 86 15.44 28349 chr17 76503560 76503560 C A rs62073553 DNAH17 Nonsynonymous SNV D1522Y 0.187 0.185 0.248 82 219 71 0.21 73 19 8 10 8 Benign 7.935 28350 chr17 79803101 79803101 A G rs1130674 P4HB Synonymous SNV I455I 0.17 0.159 0.153 78 199 61 0.2 45 16 4 3 6 3.649 28351 chr19 56459614 56459614 G C rs306506 NLRP8 Nonsynonymous SNV V116L 0.647 0.638 0.626 256 759 245 0.656 184 252 78 58 86 0.004 28352 chr17 79805134 79805134 G A rs2070871 P4HB Synonymous SNV I238I 0.162 0.151 0.139 72 190 58 0.185 41 14 3 3 6 13.35 28353 chr7 45009325 45009325 G A rs3735484 MYO1G Synonymous SNV H494H 0.443 0.424 0.31 179 520 163 0.459 91 112 37 25 37 5.984 28354 chr17 649984 649984 G A rs147516197 GEMIN4 Synonymous SNV F433F 0.034 0.029 0 10 40 11 0.026 0 0 0 0 0 Benign 3.534 28355 chr7 45009341 45009341 A G rs3735485 MYO1G Nonsynonymous SNV M489T 0.821 0.815 0.68 342 964 313 0.877 200 395 133 87 149 1.673 28356 chr6 167728775 167728775 G A rs9459921 UNC93A Nonsynonymous SNV M361I 0.249 0.211 0.211 83 292 81 0.213 62 27 8 9 12 Benign 8.103 28357 chr19 56477687 56477687 A G rs306497 NLRP8 Synonymous SNV K774K 0.815 0.802 0.789 307 957 308 0.787 232 394 121 91 119 0.003 28358 chr17 76490763 76490763 G A rs755272304 DNAH17 Nonsynonymous SNV T2061I 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 23.9 28359 chr17 650510 650510 T C rs61753060 GEMIN4 Nonsynonymous SNV Q258R 0.034 0.029 0 10 40 11 0.026 0 0 0 0 0 4.227 28360 chr19 56477710 56477710 T C rs306496 NLRP8 Nonsynonymous SNV V782A 0.578 0.529 0.565 219 678 203 0.562 166 202 56 50 52 0.003 28361 chr19 56487603 56487603 A G rs306481 NLRP8 Nonsynonymous SNV K918R 0.604 0.555 0.537 222 709 213 0.569 158 222 57 42 66 0.001 28362 chr7 45009723 45009723 G A rs11555636 MYO1G Synonymous SNV N416N 0.549 0.552 0.507 221 644 212 0.567 149 174 64 40 57 10.93 28363 chr17 76522785 76522785 C T rs61744544 DNAH17 Nonsynonymous SNV R1220H 0.217 0.206 0.265 93 255 79 0.238 78 19 10 11 13 Benign 12.38 28364 chr7 45104131 45104131 G A rs11552377 CCM2 Nonsynonymous SNV V62I 0.21 0.219 0.241 60 246 84 0.154 71 22 15 11 3 Benign 13.29 28365 chr19 56490778 56490778 C T rs306475 NLRP8 Synonymous SNV F946F 0.709 0.703 0.677 271 832 270 0.695 199 294 97 68 95 2.594 28366 chr19 56499279 56499279 G C rs306457 NLRP8 X1030Y 0.761 0.734 0.721 283 894 282 0.726 212 340 100 73 108 0.179 28367 chr7 45120248 45120248 G A rs1132130 NACAD Synonymous SNV N1555N 0.206 0.219 0.241 60 242 84 0.154 71 21 15 11 3 5.628 28368 chr17 79899283 79899283 C T rs118129884 MYADML2 Nonsynonymous SNV R112Q 0.087 0.094 0.075 43 102 36 0.11 22 3 2 0 2 0.694 28369 chr17 76547634 76547634 T C rs16971526 DNAH17 Nonsynonymous SNV I792V 0.125 0.12 0.116 57 147 46 0.146 34 14 1 2 4 0.292 28370 chr19 56515331 56515331 C T rs35669530 NLRP5 Synonymous SNV A104A 0.082 0.107 0.092 37 96 41 0.095 27 3 2 4 1 8.779 28371 chr6 168343838 168343838 T C rs1132306 AFDN Synonymous SNV Y1020Y 0.439 0.388 0.398 147 515 149 0.377 117 111 34 26 25 1.097 28372 chr7 45122324 45122324 C A rs3735493 NACAD Nonsynonymous SNV C1152F 0.212 0.219 0.241 63 249 84 0.162 71 21 15 11 3 24 28373 chr19 56565164 56565164 G A rs3103057 NLRP5 Nonsynonymous SNV A1097T 0.984 0.987 0.98 380 1155 379 0.974 288 569 187 141 186 1.51 28374 chr6 168349011 168349011 C T rs9364371 AFDN Synonymous SNV I1204I 0.263 0.208 0.228 92 309 80 0.236 67 38 11 8 8 17.89 28375 chr7 45122464 45122464 A C rs10243185 NACAD Nonsynonymous SNV D1105E 0.402 0.448 0.435 137 472 172 0.351 128 86 39 30 21 0.002 28376 chr6 168377095 168377220 GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTT - HGC6.3 Q38_S79del 0.054 0.034 0.017 22 63 13 0.056 5 7 3 1 4 28377 chr19 56572832 56572832 G A rs10409555 NLRP5 Nonsynonymous SNV V1181I 0.295 0.279 0.306 103 346 107 0.264 90 54 14 13 13 0.001 28378 chr17 7324757 7324757 C T rs200202452 SPEM1 Nonsynonymous SNV R255C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 28.1 28379 chr17 79093822 79093822 A G rs36000545 AATK Nonsynonymous SNV F1163S 0.395 0.417 0.361 170 464 160 0.436 106 101 40 23 36 4.811 28380 chr6 168457966 168457966 G A rs3734899 FRMD1 Synonymous SNV D419D 0.428 0.414 0.364 189 502 159 0.485 107 111 33 27 47 0.858 28381 chr19 56693620 56693620 C G rs3745833 GALP Nonsynonymous SNV I72M 0.328 0.359 0.34 143 385 138 0.367 100 69 24 17 25 12.84 28382 chr7 45122723 45122723 G A rs61740895 NACAD Nonsynonymous SNV A1019V 0.314 0.352 0.344 105 369 135 0.269 101 49 28 19 16 3.535 28383 chr17 7669761 7669761 G A rs35788701 DNAH2 Nonsynonymous SNV E1213K 0.016 0.005 0.024 5 19 2 0.013 7 0 0 0 0 23.9 28384 chr19 56702323 56702323 C T rs4801296 ZSCAN5B Nonsynonymous SNV V208I 0.47 0.484 0.507 188 552 186 0.482 149 122 46 40 45 0.063 28385 chr17 79977081 79977081 C T rs559835459 CENPX Nonsynonymous SNV R126K 0.004 0.008 0 0 5 3 0 0 0 0 0 0 17.62 28386 chr7 45123090 45123090 G A rs10276748 NACAD Nonsynonymous SNV P897S 0.302 0.326 0.306 97 354 125 0.249 90 44 24 16 13 0.009 28387 chr17 76800044 76800044 G A USP36 Nonsynonymous SNV P745S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.32 28388 chr17 7673922 7673922 A T rs9910089 DNAH2 Synonymous SNV I1382I 0.059 0.063 0.037 18 69 24 0.046 11 1 1 0 0 Benign 0.323 28389 chr17 79095304 79095304 G A rs555748656 AATK Nonsynonymous SNV S708L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.84 28390 chr19 56717353 56717353 A G rs10419548 ZSCAN5C Nonsynonymous SNV Q24R 0.468 0.484 0.497 194 549 186 0.497 146 132 44 37 47 0.001 28391 chr7 45124008 45124008 T C rs7777835 NACAD Nonsynonymous SNV K591E 0.59 0.625 0.565 212 693 240 0.544 166 231 85 57 64 0.003 28392 chr19 56718585 56718585 A G rs4801690 ZSCAN5C Nonsynonymous SNV Q181R 0.531 0.547 0.558 214 623 210 0.549 164 169 56 47 59 0.001 28393 chr17 7106289 7106289 G A rs745434753 DLG4 Synonymous SNV Y180Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.534 28394 chr7 45124286 45124286 A G rs3735494 NACAD Nonsynonymous SNV V498A 0.317 0.352 0.347 105 372 135 0.269 102 48 28 20 16 0.001 28395 chr19 56719405 56719405 A C rs12979551 ZSCAN5C Nonsynonymous SNV E197D 0.592 0.664 0.592 244 695 255 0.626 174 203 90 51 79 0.001 28396 chr17 80020812 80020812 C T rs11542332 DUS1L Synonymous SNV T145T 0.066 0.052 0.031 20 78 20 0.051 9 2 1 0 0 20.7 28397 chr6 169641971 169641971 C T rs61730651 THBS2 Synonymous SNV S259S 0.177 0.141 0.139 80 208 54 0.205 41 16 5 4 9 10.47 28398 chr17 65336989 65336989 G T rs147249453 PSMD12 Synonymous SNV A427A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 8.23 28399 chr17 80039481 80039481 G A rs1140616 FASN Synonymous SNV I2134I 0.443 0.492 0.425 200 520 189 0.513 125 111 52 25 47 12.21 28400 chr17 77111732 77111732 G A rs80198744 RBFOX3 Synonymous SNV Y22Y 0.152 0.141 0.133 63 179 54 0.162 39 26 6 5 4 1.125 28401 chr6 169648767 169648767 G A rs12178180 THBS2 Synonymous SNV N118N 0.264 0.232 0.241 114 310 89 0.292 71 42 12 10 19 2.591 28402 chr7 45124465 45124465 A T rs3735495 NACAD Nonsynonymous SNV D438E 0.316 0.352 0.337 105 371 135 0.269 99 48 28 19 16 0.001 28403 chr19 56719822 56719822 G T rs1865101 ZSCAN5C Synonymous SNV G248G 0.673 0.721 0.687 276 790 277 0.708 202 266 101 68 97 0.044 28404 chr17 80041466 80041466 G A rs2229425 FASN Synonymous SNV S1756S 0.112 0.133 0.102 40 131 51 0.103 30 8 5 1 4 15.15 28405 chr6 170102267 170102267 A G rs4716383 C6orf120 Synonymous SNV K3K 0.348 0.302 0.333 130 408 116 0.333 98 74 18 19 18 2.919 28406 chr19 56719853 56719853 C A rs1865102 ZSCAN5C Nonsynonymous SNV Q259K 0.672 0.721 0.687 276 789 277 0.708 202 266 101 68 97 0.003 28407 chr17 80043739 80043739 A G rs2229422 FASN Synonymous SNV A1247A 0.268 0.299 0.204 120 315 115 0.308 60 40 18 7 18 0.583 28408 chr6 170102276 170102276 C T rs141767157 C6orf120 Synonymous SNV P6P 0.078 0.06 0.037 31 92 23 0.079 11 3 1 0 0 8.871 28409 chr7 45753324 45753324 G A rs2293106 ADCY1 Synonymous SNV R1030R 0.231 0.221 0.211 71 271 85 0.182 62 27 9 7 7 Benign 9.75 28410 chr17 7345966 7345966 C T rs4151130 FGF11 Synonymous SNV Y95Y 0.01 0.013 0.027 3 12 5 0.008 8 0 0 0 0 Benign 14.09 28411 chr19 56733425 56733425 C A rs34187696 ZSCAN5A Nonsynonymous SNV G220V 0.279 0.299 0.279 95 327 115 0.244 82 42 20 8 12 23.5 28412 chr17 80051183 80051183 A G rs2228309 FASN Synonymous SNV N189N 0.478 0.5 0.476 215 561 192 0.551 140 129 53 35 56 0.002 28413 chr17 7734161 7734161 G A DNAH2 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 28414 chr7 47323456 47323456 A G rs3750164 TNS3 Synonymous SNV N1312N 0.722 0.711 0.748 270 848 273 0.692 220 310 95 79 95 0.364 28415 chr6 170110404 170110404 T C rs17860601 PHF10 Synonymous SNV K347K 0.07 0.065 0.044 31 82 25 0.079 13 3 1 0 0 0.794 28416 chr17 7735063 7735063 T G rs57985356 DNAH2 Nonsynonymous SNV F4232L 0.044 0.044 0.054 17 52 17 0.044 16 1 1 0 0 23 28417 chr17 80059596 80059596 T C rs13949 CCDC57 Nonsynonymous SNV R524G 0.458 0.479 0.449 207 538 184 0.531 132 115 46 30 54 10.33 28418 chr19 56935527 56935527 A G rs3810340 ZNF583 Synonymous SNV A500A 0.439 0.474 0.469 176 515 182 0.451 138 113 44 35 44 11.87 28419 chr7 47408029 47408029 A G rs2255744 TNS3 Synonymous SNV G738G 0.784 0.805 0.772 306 921 309 0.785 227 357 129 88 114 7.468 28420 chr6 170144228 170144228 C A rs2027063 TCTE3 Nonsynonymous SNV R88I 0.069 0.065 0.061 31 81 25 0.079 18 3 1 1 0 31 28421 chr19 56953585 56953585 T C rs3760849 ZNF667 Nonsynonymous SNV K260R 0.434 0.469 0.473 172 509 180 0.441 139 112 44 36 43 8.458 28422 chr17 663467 663467 T A rs74757321 GLOD4 Synonymous SNV A225A 0.04 0.031 0.01 19 47 12 0.049 3 0 0 0 0 12.02 28423 chr7 47408974 47408974 T A rs1534136 TNS3 Synonymous SNV A423A 0.79 0.81 0.772 307 927 311 0.787 227 362 129 88 115 0.004 28424 chr17 80085633 80085633 A G rs11077969 CCDC57 Nonsynonymous SNV M453T 0.485 0.508 0.473 216 569 195 0.554 139 133 51 33 56 0.002 28425 chr17 7736480 7736480 T A rs78354379 DNAH2 Nonsynonymous SNV V4357D 0.012 0.023 0.014 8 14 9 0.021 4 0 1 0 0 31 28426 chr6 170181516 170181516 A G rs2274952 ERMARD Synonymous SNV T522T 0.066 0.065 0.048 32 77 25 0.082 14 3 1 0 0 Benign 0.041 28427 chr19 56953863 56953863 T C rs8107758 ZNF667 Synonymous SNV T167T 0.989 0.995 0.983 381 1161 382 0.977 289 575 190 143 186 0.001 28428 chr17 663468 663468 G T rs75027378 GLOD4 Nonsynonymous SNV A225E 0.04 0.031 0.01 19 47 12 0.049 3 0 0 0 0 14.38 28429 chr7 47698685 47698685 A G rs12531737 C7orf65 Synonymous SNV G105G 0.202 0.193 0.18 73 237 74 0.187 53 24 4 3 8 0.31 28430 chr19 5696146 5696146 G A rs3745624 LONP1 Synonymous SNV T448T 0.284 0.302 0.279 116 334 116 0.297 82 37 19 12 17 Benign 6.816 28431 chr6 170626943 170626943 T C rs3800266 FAM120B Synonymous SNV S167S 0.127 0.135 0.187 59 149 52 0.151 55 15 3 5 6 0.001 28432 chr7 47835027 47835027 A G rs9719534 C7orf69 0.767 0.75 0.694 290 900 288 0.744 204 351 107 81 112 0.01 28433 chr17 80085703 80085703 G T rs7213172 CCDC57 Nonsynonymous SNV Q430K 0.485 0.508 0.469 216 569 195 0.554 138 133 51 33 56 0.031 28434 chr17 7749463 7749463 C T rs145085233 KDM6B Nonsynonymous SNV R102W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 28435 chr19 57036012 57036012 G T rs11667052 ZNF471 Nonsynonymous SNV M118I 0.253 0.242 0.211 90 297 93 0.231 62 37 8 6 6 0.319 28436 chr6 170627586 170627586 G T rs6917485 FAM120B Nonsynonymous SNV D382Y 0.126 0.135 0.18 58 148 52 0.149 53 14 3 5 6 15.26 28437 chr17 79220016 79220016 T C rs61740863 SLC38A10 Synonymous SNV A900A 0.11 0.104 0.099 66 129 40 0.169 29 4 3 2 9 8.688 28438 chr17 73500997 73500997 A C rs760588063 CASKIN2 Nonsynonymous SNV L281R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 28439 chr7 47851623 47851623 C T rs73692834 PKD1L1 Nonsynonymous SNV R2458Q 0.195 0.174 0.16 54 229 67 0.138 47 24 5 5 4 11.12 28440 chr19 57036653 57036653 G A rs3752176 ZNF471 Nonsynonymous SNV G332D 0.448 0.411 0.408 164 526 158 0.421 120 126 34 20 32 11.19 28441 chr17 79226362 79226362 G A rs3803767 SLC38A10 Synonymous SNV H526H 0.11 0.112 0.095 64 129 43 0.164 28 5 3 2 8 4.453 28442 chr17 80086386 80086386 C T rs7406162 CCDC57 Nonsynonymous SNV A397T 0.482 0.5 0.456 215 566 192 0.551 134 134 50 33 56 17.89 28443 chr6 170627614 170627614 T C rs6905356 FAM120B Nonsynonymous SNV M391T 0.127 0.135 0.18 58 149 52 0.149 53 15 3 5 6 11.08 28444 chr17 7751138 7751138 C A rs61031471 KDM6B Nonsynonymous SNV P511H 0.018 0.021 0.003 6 21 8 0.015 1 4 2 0 1 18.15 28445 chr17 73513677 73513677 A C rs11559205 TSEN54 Nonsynonymous SNV I137L 0.106 0.104 0.082 42 124 40 0.108 24 6 1 1 1 Benign 23.9 28446 chr7 47852837 47852837 C T rs2290386 PKD1L1 Nonsynonymous SNV E2410K 0.201 0.177 0.163 57 236 68 0.146 48 27 5 5 5 0.014 28447 chr19 57037103 57037103 C G rs16987303 ZNF471 Nonsynonymous SNV S482C 0.183 0.159 0.143 59 215 61 0.151 42 24 4 3 4 23.4 28448 chr17 77073776 77073776 A T rs62063818 ENGASE Synonymous SNV P82P 0.14 0.151 0.102 43 164 58 0.11 30 10 8 2 2 0.007 28449 chr17 80086389 80086389 C T rs7406163 CCDC57 Nonsynonymous SNV D396N 0.482 0.5 0.466 216 566 192 0.554 137 134 50 33 56 10.17 28450 chr6 170627695 170627695 - CCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGG FAM120B E432_A433insPRQEVPMCTGPE 0.123 0.135 0.17 57 144 52 0.146 50 14 3 4 6 28451 chr6 170627761 170627761 A G rs6900199 FAM120B Nonsynonymous SNV Y440C 0.126 0.138 0.177 57 148 53 0.146 52 15 3 5 6 0.055 28452 chr17 77073941 77073941 T C rs56353542 ENGASE Synonymous SNV D137D 0.135 0.146 0.088 43 158 56 0.11 26 10 8 2 2 0.012 28453 chr19 57062073 57062073 T C rs379214 ZFP28 Nonsynonymous SNV Y333H 0.544 0.526 0.639 203 639 202 0.521 188 201 61 65 62 1.674 28454 chr7 47854956 47854956 C T rs17545564 PKD1L1 Synonymous SNV P2355P 0.198 0.174 0.167 58 232 67 0.149 49 24 5 5 5 12.01 28455 chr17 80086395 80086395 T C rs4625783 CCDC57 Nonsynonymous SNV R394G 0.483 0.5 0.469 216 567 192 0.554 138 134 50 33 56 9.237 28456 chr17 77076302 77076302 G A rs62063824 ENGASE Synonymous SNV T193T 0.116 0.125 0.095 33 136 48 0.085 28 5 4 2 1 16.95 28457 chr17 73520359 73520359 C G rs62088470 TSEN54 Nonsynonymous SNV P483A 0.103 0.102 0.082 41 121 39 0.105 24 6 1 1 1 Benign 28.6 28458 chr19 57066013 57066013 C T rs10409531 ZFP28 Nonsynonymous SNV A620V 0.373 0.354 0.347 133 438 136 0.341 102 78 21 19 22 17.62 28459 chr7 47859239 47859239 C A rs3757379 C7orf69 0.41 0.427 0.378 181 481 164 0.464 111 110 38 25 50 3.421 28460 chr6 170627797 170627797 A G rs9366138 FAM120B Nonsynonymous SNV Y452C 0.126 0.135 0.177 57 148 52 0.146 52 14 3 5 6 0.037 28461 chr17 77078109 77078109 A G rs1317421 ENGASE Synonymous SNV R334R 0.24 0.232 0.235 77 282 89 0.197 69 35 15 10 9 0.784 28462 chr7 47872845 47872845 A G rs921634 PKD1L1 Synonymous SNV P2060P 0.76 0.745 0.704 301 892 286 0.772 207 340 102 75 117 0.277 28463 chr17 77708881 77708881 G A rs144483594 ENPP7 Nonsynonymous SNV V147I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.07 28464 chr19 57085769 57085769 G C rs10421285 ZNF470 Nonsynonymous SNV V23L 0.386 0.37 0.354 140 453 142 0.359 104 84 25 19 24 3.27 28465 chr7 47879049 47879049 G A rs76100363 PKD1L1 Nonsynonymous SNV R1922W 0.211 0.188 0.173 68 248 72 0.174 51 30 7 6 7 17.22 28466 chr6 170628009 170628009 T G rs9348266 FAM120B Nonsynonymous SNV C523G 0.127 0.135 0.187 59 149 52 0.151 55 15 3 5 6 0.082 28467 chr17 79571637 79571637 C G rs11541223 NPLOC4 Synonymous SNV T257T 0.129 0.141 0.119 50 152 54 0.128 35 13 7 1 2 13.85 28468 chr17 8021608 8021608 G C rs3027229 ALOXE3 Nonsynonymous SNV P33A 0.147 0.159 0.143 65 173 61 0.167 42 12 5 3 7 Benign 6.723 28469 chr17 7678085 7678085 G A rs79662110 DNAH2 Nonsynonymous SNV D1504N 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 23.2 28470 chr19 57089050 57089050 C T rs4801177 ZNF470 Nonsynonymous SNV T418I 0.773 0.75 0.786 306 907 288 0.785 231 354 107 89 120 0.759 28471 chr17 77082174 77082174 C T rs117014247 ENGASE Nonsynonymous SNV R659C 0.024 0.026 0.02 3 28 10 0.008 6 0 1 0 0 19.34 28472 chr17 73559441 73559441 C T rs34158736 LLGL2 Synonymous SNV D241D 0.037 0.055 0.044 14 44 21 0.036 13 0 0 0 0 15.54 28473 chr7 47913579 47913579 T C rs1470859 PKD1L1 Nonsynonymous SNV K1272E 0.804 0.781 0.827 300 944 300 0.769 243 381 116 101 114 0.001 28474 chr17 77926526 77926526 C T rs150604803 TBC1D16 Nonsynonymous SNV A291T 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 24.2 28475 chr17 8025180 8025180 T C rs56066045 HES7 Synonymous SNV K134K 0.116 0.133 0.112 56 136 51 0.144 33 12 5 3 7 Benign 1.894 28476 chr19 57089375 57089375 A G rs4570977 ZNF470 Synonymous SNV Q526Q 0.28 0.281 0.265 98 329 108 0.251 78 44 14 11 8 2.13 28477 chr6 170871052 170871053 GC - rs796868804 TBP Q57Afs*100 0.261 0.214 0.218 81 306 82 0.208 64 40 10 12 10 28478 chr17 7131294 7131294 A C DVL2 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.1 28479 chr19 57132968 57132968 G A rs2072501 ZNF71 Nonsynonymous SNV V105I 0.183 0.164 0.204 57 215 63 0.146 60 19 7 6 2 0.027 28480 chr17 8025712 8025712 A G rs1348325 HES7 Synonymous SNV L59L 0.147 0.159 0.109 64 172 61 0.164 32 12 5 3 7 Benign 6.591 28481 chr7 47913580 47913580 G A rs73105162 PKD1L1 Synonymous SNV G1271G 0.29 0.284 0.313 105 340 109 0.269 92 55 18 18 13 1.057 28482 chr6 170871055 170871055 G - rs770128377 TBP Q57Hfs*67 0.135 0.104 0.088 45 158 40 0.115 26 12 4 2 5 28483 chr17 80350331 80350331 G A rs11903 OGFOD3 Synonymous SNV I301I 0.193 0.203 0.204 71 227 78 0.182 60 27 14 4 3 17.72 28484 chr7 47920345 47920345 G A rs62447081 PKD1L1 Synonymous SNV Y1167Y 0.287 0.279 0.306 104 337 107 0.267 90 55 18 17 12 7.959 28485 chr17 77076440 77076440 G T rs3744186 ENGASE Synonymous SNV S239S 0.198 0.195 0.231 78 232 75 0.2 68 28 14 11 9 1.036 28486 chr19 57175484 57175484 A G rs7250003 ZNF835 Synonymous SNV P361P 0.338 0.299 0.262 101 397 115 0.259 77 64 14 12 14 0.747 28487 chr6 170878793 170878793 T C rs1042327 TBP Synonymous SNV N237N 0.473 0.44 0.48 180 555 169 0.462 141 136 41 36 40 Likely benign 7.958 28488 chr17 79682558 79682558 T C rs2072700 SLC25A10 Synonymous SNV R88R 0.437 0.469 0.435 169 513 180 0.433 128 121 45 27 36 0.181 28489 chr17 80364311 80364311 G A rs778614297 OGFOD3 Synonymous SNV H157H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.91 28490 chr7 47925331 47925331 C G rs10274334 PKD1L1 Nonsynonymous SNV R1053P 0.426 0.44 0.388 167 500 169 0.428 114 108 34 31 33 10.15 28491 chr19 57176198 57176198 T G rs8108756 ZNF835 Synonymous SNV S123S 0.337 0.299 0.272 101 396 115 0.259 80 64 15 13 14 0.035 28492 chr17 80373377 80373377 G T rs8072110 OGFOD3 Nonsynonymous SNV D67E 0.083 0.073 0.051 44 97 28 0.113 15 5 0 1 2 0.001 28493 chr17 79687218 79687218 G A rs11150813 SLC25A10 Nonsynonymous SNV V298I 0.435 0.464 0.429 167 511 178 0.428 126 120 45 26 36 Benign 1.508 28494 chr19 57176304 57176304 T G rs12460400 ZNF835 Nonsynonymous SNV E88A 0.336 0.299 0.272 99 395 115 0.254 80 64 15 13 14 0.095 28495 chr7 47930280 47930280 C T rs117511904 PKD1L1 Synonymous SNV A845A 0.028 0.031 0.034 7 33 12 0.018 10 0 0 0 0 12.23 28496 chr17 80377690 80377690 T G rs1141463 HEXD Synonymous SNV T5T 0.288 0.326 0.323 130 338 125 0.333 95 48 17 18 22 Benign 0.16 28497 chr7 47968927 47968927 C A rs2686817 PKD1L1 Nonsynonymous SNV V312F 0.441 0.427 0.466 165 518 164 0.423 137 105 36 32 31 23.5 28498 chr19 57176482 57176482 C T rs12462469 ZNF835 Nonsynonymous SNV E29K 0.336 0.299 0.272 99 395 115 0.254 80 64 15 13 14 9.939 28499 chr17 80391684 80391684 A G rs4789773 HEXD Nonsynonymous SNV I53V 0.348 0.393 0.398 161 409 151 0.413 117 65 29 24 33 Benign 0.034 28500 chr17 67079079 67079079 C T rs78383857 ABCA6 Synonymous SNV T1517T 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 14.2 28501 chr7 590148 590148 G A rs28488947 PRKAR1B Synonymous SNV F355F 0.009 0.01 0.007 5 10 4 0.013 2 0 0 0 0 15.14 28502 chr19 57293394 57293394 A G rs2286751 ZIM2 Synonymous SNV S191S 0.81 0.813 0.779 304 951 312 0.779 229 393 130 86 118 0.072 28503 chr7 47971575 47971575 A G rs885337 PKD1L1 Synonymous SNV C159C 0.457 0.438 0.49 173 536 168 0.444 144 113 38 35 34 0.026 28504 chr19 57335022 57335022 G A rs1860565 PEG3, ZIM2 Synonymous SNV S140S 0.276 0.227 0.299 116 324 87 0.297 88 42 8 17 15 3.365 28505 chr17 80393652 80393652 C T rs112909670 HEXD Nonsynonymous SNV R87W 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 19.3 28506 chr7 48004962 48004962 C T rs1056663 HUS1 Synonymous SNV A257A 0.47 0.443 0.473 173 552 170 0.444 139 124 38 33 34 16.46 28507 chr17 71468267 71468267 G A rs12452761 SDK2 Synonymous SNV T105T 0.053 0.055 0.054 22 62 21 0.056 16 0 2 0 0 6.51 28508 chr19 57641146 57641146 A G rs1027392 USP29 Nonsynonymous SNV N368S 0.667 0.661 0.639 271 783 254 0.695 188 261 83 67 95 0.005 28509 chr17 77984141 77984141 C T rs35922784 TBC1D16 Synonymous SNV G199G 0.294 0.367 0.269 125 345 141 0.321 79 50 30 11 16 12.94 28510 chr17 79827404 79827404 C T rs181424923 ARHGDIA Synonymous SNV A96A 0.007 0.005 0.007 5 8 2 0.013 2 0 0 0 1 6.539 28511 chr7 48081095 48081095 G T rs10951942 C7orf57 Nonsynonymous SNV A74S 0.516 0.5 0.476 172 606 192 0.441 140 155 45 35 34 25.1 28512 chr7 590229 590229 T C rs28626752 PRKAR1B Synonymous SNV A328A 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 0.219 28513 chr17 7750436 7750436 C T rs2270516 KDM6B Nonsynonymous SNV S308L 0.003 0.008 0.003 0 4 3 0 1 1 0 0 0 23.9 28514 chr19 57642098 57642098 G A rs3764574 USP29 Synonymous SNV V685V 0.56 0.508 0.514 232 658 195 0.595 151 190 51 46 69 2.51 28515 chr19 57642782 57642782 C A rs9973206 USP29 Stop gain Y913X 0.873 0.867 0.833 343 1025 333 0.879 245 441 147 105 152 35 28516 chr17 7754460 7754460 C A rs3736306 KDM6B Synonymous SNV I1265I 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 8.446 28517 chr7 48086077 48086077 C T rs2708912 C7orf57 Nonsynonymous SNV P2L 0.943 0.94 0.922 350 1107 361 0.897 271 521 171 125 155 25.8 28518 chr17 79898737 79898737 T C rs181984777 MYADML2 Nonsynonymous SNV D294G 0.007 0.005 0.003 5 8 2 0.013 1 0 0 0 1 24.6 28519 chr19 57646570 57646570 T C rs4801433 ZIM3 Nonsynonymous SNV I379V 0.559 0.505 0.51 233 656 194 0.597 150 188 51 46 70 1.475 28520 chr7 48086161 48086161 T C rs10233232 C7orf57 Nonsynonymous SNV M30T 0.943 0.94 0.922 350 1107 361 0.897 271 521 171 125 155 9.664 28521 chr17 7758522 7758522 C T rs2270518 TMEM88 Nonsynonymous SNV L44F 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 21.7 28522 chr19 57647015 57647015 A G rs7251328 ZIM3 Synonymous SNV N230N 0.591 0.557 0.537 243 694 214 0.623 158 211 55 49 77 0.429 28523 chr17 8053085 8053085 T G rs3027178 PER1 Synonymous SNV T213T 0.336 0.333 0.306 118 394 128 0.303 90 66 24 13 16 0.159 28524 chr19 57647236 57647236 T C rs7252632 ZIM3 Nonsynonymous SNV N157D 0.668 0.664 0.639 270 784 255 0.692 188 262 84 67 94 0.001 28525 chr7 48089542 48089542 T C rs2686788 C7orf57 Synonymous SNV N69N 0.943 0.94 0.922 350 1107 361 0.897 271 521 171 125 155 0.04 28526 chr7 48089571 48089571 C A rs2708890 C7orf57 Nonsynonymous SNV P79H 0.943 0.94 0.922 350 1107 361 0.897 271 521 171 125 155 22 28527 chr17 78063957 78063957 A G rs7210658 CCDC40 Nonsynonymous SNV Q951R 0.15 0.122 0.051 53 176 47 0.136 15 19 7 3 9 2.058 28528 chr19 57648277 57648277 A T rs4801200 ZIM3 Nonsynonymous SNV L69M 0.553 0.5 0.5 231 649 192 0.592 147 184 50 44 69 0.017 28529 chr7 48092486 48092486 T C rs2686791 C7orf57 Synonymous SNV D127D 0.944 0.94 0.922 350 1108 361 0.897 271 522 171 125 155 0.005 28530 chr19 57649962 57649962 C T rs10407445 ZIM3 Nonsynonymous SNV R7K 0.106 0.135 0.129 40 125 52 0.103 38 10 1 2 3 4.942 28531 chr17 78063964 78063964 A G rs7210664 CCDC40 Synonymous SNV A953A 0.148 0.12 0.051 50 174 46 0.128 15 20 7 3 8 2.605 28532 chr17 80788465 80788465 T C rs12938126 ZNF750 Synonymous SNV A575A 0.42 0.362 0.391 173 493 139 0.444 115 97 26 25 37 0.283 28533 chr7 48313510 48313510 A G rs17547830 ABCA13 Nonsynonymous SNV H1416R 0.367 0.411 0.381 152 431 158 0.39 112 82 31 23 32 0.008 28534 chr17 77753191 77753191 C T rs35124694 CBX2 Synonymous SNV I49I 0.083 0.057 0.031 22 98 22 0.056 9 2 0 0 0 19.8 28535 chr17 78063966 78063966 A G rs7210665 CCDC40 Nonsynonymous SNV H954R 0.148 0.12 0.051 50 174 46 0.128 15 20 7 3 8 2.263 28536 chr17 80788492 80788492 A G rs12948179 ZNF750 Synonymous SNV P566P 0.42 0.362 0.391 173 493 139 0.444 115 97 26 25 37 1.09 28537 chr19 57742489 57742489 C T rs58264281 AURKC 0.727 0.703 0.738 295 853 270 0.756 217 321 102 82 119 Benign 4.941 28538 chr7 48314798 48314798 G T rs13233225 ABCA13 Synonymous SNV G1845G 0.368 0.411 0.395 150 432 158 0.385 116 83 31 23 31 0.253 28539 chr17 80789468 80789468 G A rs35653278 ZNF750 Nonsynonymous SNV P288L 0.032 0.039 0.048 13 38 15 0.033 14 1 1 0 0 23.6 28540 chr19 57802806 57802806 C T rs2041109 ZNF460 Synonymous SNV N258N 0.213 0.234 0.214 114 250 90 0.292 63 29 9 9 19 6.298 28541 chr17 78063996 78063996 A G rs7210679 CCDC40 Nonsynonymous SNV H964R 0.158 0.135 0.099 64 185 52 0.164 29 19 7 3 9 2.318 28542 chr19 57802824 57802824 G A rs2041110 ZNF460 Synonymous SNV K264K 0.214 0.232 0.214 114 251 89 0.292 63 29 9 9 19 7.39 28543 chr7 48450157 48450157 T C rs17548783 ABCA13 Synonymous SNV A4037A 0.415 0.414 0.415 163 487 159 0.418 122 94 33 26 35 0.043 28544 chr19 57838018 57838018 C G rs6510057 ZNF543 Nonsynonymous SNV P55A 0.511 0.513 0.497 214 600 197 0.549 146 136 47 37 65 0.146 28545 chr7 1480285 1480285 C T rs118132501 MICALL2 Nonsynonymous SNV G583R 0.02 0.023 0.01 9 24 9 0.023 3 0 0 0 0 8.65 28546 chr17 80789628 80789628 T C rs8074277 ZNF750 Nonsynonymous SNV M235V 0.107 0.125 0.109 51 126 48 0.131 32 10 5 2 2 0.001 28547 chr7 48506566 48506566 A G rs4917152 ABCA13 Nonsynonymous SNV N4277D 0.124 0.081 0.146 39 145 31 0.1 43 8 1 1 1 0.002 28548 chr17 7829031 7829031 G T rs61745617 KCNAB3 Synonymous SNV R170R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 28549 chr19 57839150 57839150 A G rs8100491 ZNF543 Nonsynonymous SNV Q107R 0.71 0.693 0.677 284 833 266 0.728 199 289 92 64 110 0.001 28550 chr7 48506642 48506642 A G rs4917153 ABCA13 Nonsynonymous SNV Q4302R 0.124 0.081 0.146 39 145 31 0.1 43 8 1 1 1 0.002 28551 chr19 57839567 57839567 T A rs1968090 ZNF543 Nonsynonymous SNV L246H 0.706 0.69 0.677 284 829 265 0.728 199 288 91 64 110 5.817 28552 chr7 48528923 48528923 G C rs73694648 ABCA13 Nonsynonymous SNV V4425L 0.072 0.076 0.061 20 84 29 0.051 18 6 3 2 0 12.97 28553 chr7 1510834 1510834 C T rs149670463 INTS1 Synonymous SNV S2094S 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Benign 21.3 28554 chr19 57840547 57840547 A G rs10410649 ZNF543 Nonsynonymous SNV M573V 0.255 0.227 0.224 106 299 87 0.272 66 35 7 5 19 0.033 28555 chr17 80923536 80923536 C T rs4986144 B3GNTL1 Synonymous SNV E19E 0.152 0.161 0.173 73 179 62 0.187 51 20 8 2 7 9.837 28556 chr7 48545976 48545976 A G rs6583448 ABCA13 Nonsynonymous SNV K4446E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.64 28557 chr19 57868336 57868336 A G rs862709 ZNF304 Nonsynonymous SNV K367E 0.991 0.979 0.99 387 1164 376 0.992 291 577 184 144 192 0.05 28558 chr7 1538614 1538614 G A rs2289035 INTS1 Synonymous SNV P378P 0.106 0.068 0.276 49 125 26 0.126 81 56 11 28 22 7.844 28559 chr17 81006387 81006387 G A rs1143006 B3GNTL1 Synonymous SNV H79H 0.347 0.323 0.327 136 407 124 0.349 96 72 22 14 21 7.35 28560 chr7 49815390 49815390 C G rs769604 VWC2 Nonsynonymous SNV A120G 0.493 0.531 0.503 187 579 204 0.479 148 153 51 34 50 2.876 28561 chr19 57909872 57909872 G A rs4801478 ZNF548 Nonsynonymous SNV A73T 0.938 0.948 0.932 356 1101 364 0.913 274 517 172 129 162 0.033 28562 chr17 81009622 81009622 C T rs59686903 B3GNTL1 Synonymous SNV Q17Q 0.071 0.091 0.051 34 83 35 0.087 15 4 2 2 0 12.64 28563 chr17 81009636 81009636 T G rs57923322 B3GNTL1 Nonsynonymous SNV S13R 0.202 0.203 0.143 83 237 78 0.213 42 21 9 6 6 0.22 28564 chr19 57931303 57931303 C A rs2014827 ZNF17 Nonsynonymous SNV T148K 0.17 0.201 0.173 59 200 77 0.151 51 20 5 2 4 23.2 28565 chr7 50097697 50097697 A G rs76027725 ZPBP Synonymous SNV L124L 0.079 0.081 0.065 23 93 31 0.059 19 2 3 1 2 3.832 28566 chr7 50143938 50143938 C T rs17133685 SPATA48 Synonymous SNV P194P 0.076 0.081 0.065 23 89 31 0.059 19 3 3 1 3 7.84 28567 chr19 57931553 57931553 C T rs10417533 ZNF17 Synonymous SNV S231S 0.25 0.227 0.197 126 293 87 0.323 58 28 12 5 26 11.65 28568 chr17 73969728 73969728 G A rs543316644 ACOX1 Synonymous SNV Y136Y 0.002 0.008 0 0 2 3 0 0 0 0 0 0 19.51 28569 chr7 50180972 50180972 C T rs1456908 SPATA48 Nonsynonymous SNV T358I 0.436 0.424 0.395 180 512 163 0.462 116 121 32 23 44 26.5 28570 chr19 57932027 57932027 C T rs2158009 ZNF17 Synonymous SNV N389N 0.17 0.203 0.177 59 200 78 0.151 52 20 5 2 4 13.29 28571 chr19 57955244 57955244 A G rs12986235 ZNF749 Nonsynonymous SNV Q156R 0.312 0.31 0.33 143 366 119 0.367 97 65 15 16 28 12.27 28572 chr7 1976457 1976457 C T rs1801368 MAD1L1 Nonsynonymous SNV R14H 0.369 0.354 0.31 133 433 136 0.341 91 83 26 18 16 17.29 28573 chr7 50436033 50436033 A G rs10899750 IKZF1 Nonsynonymous SNV R164G 0.665 0.711 0.663 276 781 273 0.708 195 262 94 64 95 0.481 28574 chr19 57956828 57956828 T G rs7246856 ZNF749 Nonsynonymous SNV I684R 0.549 0.565 0.588 199 645 217 0.51 173 179 58 50 47 0.029 28575 chr7 2257612 2257612 G A rs6951493 MAD1L1 Synonymous SNV H129H 0.278 0.299 0.248 110 326 115 0.282 73 38 23 15 15 6.816 28576 chr7 50467767 50467767 C A rs61731355 IKZF1 Synonymous SNV P104P 0.2 0.188 0.214 76 235 72 0.195 63 24 7 7 4 10.72 28577 chr19 57985460 57985460 T A rs2074059 ZNF772 Nonsynonymous SNV M106L 0.633 0.669 0.619 241 743 257 0.618 182 234 90 61 76 0.513 28578 chr7 50514577 50514577 C T rs10235371 FIGNL1 Nonsynonymous SNV V137M 0.147 0.128 0.122 55 173 49 0.141 36 16 5 1 3 10.87 28579 chr17 78327541 78327541 A G rs78725532 RNF213-AS1 0.06 0.081 0.041 23 70 31 0.059 12 3 0 1 1 6.214 28580 chr19 57985566 57985566 G C rs2074060 ZNF772 Nonsynonymous SNV C70W 0.633 0.669 0.619 241 743 257 0.618 182 234 90 61 76 3.979 28581 chr7 50611735 50611735 T C rs6264 DDC Nonsynonymous SNV M17V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.363 28582 chr17 695061 695061 G A rs75658007 MRM3 Nonsynonymous SNV V143I 0.039 0.034 0.01 19 46 13 0.049 3 0 0 0 0 23.3 28583 chr17 8139463 8139463 G A rs74506939 CTC1 Synonymous SNV D330D 0.233 0.276 0.19 87 274 106 0.223 56 28 18 5 11 Benign 0.061 28584 chr19 58038964 58038964 T A rs12461014 ZNF549 Nonsynonymous SNV I8N 0.954 0.945 0.949 367 1120 363 0.941 279 533 171 132 174 9.865 28585 chr17 7810754 7810754 G T rs144413508 CHD3 Synonymous SNV V1683V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.649 28586 chr7 50673029 50673029 T C rs4947710 GRB10 Synonymous SNV A403A 0.947 0.964 0.929 373 1112 370 0.956 273 529 178 127 178 0.039 28587 chr17 80209282 80209282 G A rs56181605 CSNK1D Synonymous SNV Y286Y 0.018 0.016 0.014 5 21 6 0.013 4 0 0 0 1 14.99 28588 chr19 58058536 58058536 A G rs1548476 ZNF550 Nonsynonymous SNV I359T 0.497 0.44 0.469 161 583 169 0.413 138 142 34 37 29 2.657 28589 chr7 50742180 50742180 C T rs1800504 GRB10 Synonymous SNV P105P 0.55 0.568 0.418 204 646 218 0.523 123 177 62 33 55 18.19 28590 chr17 695062 695062 T A rs80220493 MRM3 Nonsynonymous SNV V143D 0.039 0.034 0.01 19 46 13 0.049 3 0 0 0 0 24.4 28591 chr17 8022065 8022065 G A rs3027232 ALOXE3 Nonsynonymous SNV P11L 0.242 0.19 0.269 100 284 73 0.256 79 34 5 11 15 15.95 28592 chr7 2472429 2472429 C A rs3735099 CHST12 Nonsynonymous SNV P52H 0.063 0.078 0.048 24 74 30 0.062 14 5 2 0 1 3.325 28593 chr7 51093013 51093013 A T rs2240087 COBL Synonymous SNV A1187A 0.957 0.969 0.942 376 1123 372 0.964 277 539 180 130 181 0.015 28594 chr19 58058739 58058739 T C rs10410631 ZNF550 Synonymous SNV Q291Q 0.419 0.411 0.371 138 492 158 0.354 109 105 35 20 25 2.208 28595 chr17 8026364 8026364 C T rs61731639 HES7 Synonymous SNV E41E 0.068 0.036 0.068 28 80 14 0.072 20 2 0 1 0 Benign 16.33 28596 chr19 580665 580665 T C rs4682 BSG Synonymous SNV A45A 0.185 0.216 0.235 80 217 83 0.205 69 30 6 7 10 0.353 28597 chr17 78166385 78166385 C T rs11658460 CARD14 Synonymous SNV D204D 0.108 0.083 0.095 37 127 32 0.095 28 5 3 3 3 11.88 28598 chr7 51096036 51096036 G C rs2240089 COBL Nonsynonymous SNV H919Q 0.279 0.266 0.187 107 327 102 0.274 55 43 14 4 13 0.376 28599 chr7 2472455 2472455 A T rs3735100 CHST12 Nonsynonymous SNV T61S 0.063 0.078 0.048 24 74 30 0.062 14 5 2 0 1 0.001 28600 chr19 58117223 58117223 T A rs2360543 ZNF530 Nonsynonymous SNV H110Q 0.841 0.857 0.85 353 987 329 0.905 250 414 143 105 158 0.002 28601 chr17 8215534 8215534 C T rs3744651 ARHGEF15 Synonymous SNV T59T 0.325 0.357 0.313 123 381 137 0.315 92 60 28 14 19 10.57 28602 chr19 58118418 58118418 C T rs62126240 ZNF530 Nonsynonymous SNV H509Y 0.033 0.018 0.02 10 39 7 0.026 6 0 0 0 0 24.3 28603 chr17 78396004 78396004 A G rs41298712 ENDOV 0.055 0.083 0.037 21 65 32 0.054 11 3 0 1 1 23.5 28604 chr7 51096974 51096974 C T rs2240090 COBL Nonsynonymous SNV V607I 0.655 0.685 0.684 271 769 263 0.695 201 258 91 68 98 0.001 28605 chr17 8216468 8216468 T C rs871841 ARHGEF15 Nonsynonymous SNV L277P 0.555 0.565 0.514 221 652 217 0.567 151 182 65 39 65 4.126 28606 chr17 72691263 72691263 G T rs34303409 CD300LF Nonsynonymous SNV T297K 0.026 0.01 0.02 6 31 4 0.015 6 0 0 0 0 15.94 28607 chr17 80373452 80373452 C T rs4789769 OGFOD3 Synonymous SNV P42P 0.204 0.229 0.262 88 240 88 0.226 77 21 10 13 8 12.04 28608 chr19 58151339 58151339 G - rs34418076 ZNF211 V93Ffs*7 0.37 0.365 0.381 143 434 140 0.367 112 86 20 14 24 28609 chr19 58190130 58190130 G A rs11668570 ZSCAN4 Nonsynonymous SNV E387K 0.032 0.026 0.02 13 38 10 0.033 6 0 0 1 0 29.5 28610 chr7 51097063 51097063 T G rs10230120 COBL Nonsynonymous SNV D577A 0.966 0.974 0.966 380 1134 374 0.974 284 550 182 137 185 3.858 28611 chr17 72691885 72691885 C T rs59859657 CD300LF Synonymous SNV V247V 0.016 0.008 0.01 4 19 3 0.01 3 0 0 0 0 6.104 28612 chr17 7810247 7810247 A G rs202059923 CHD3 Nonsynonymous SNV S1581G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.92 28613 chr19 58455381 58455381 C T rs257652 ZNF256 Synonymous SNV E27E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.95 28614 chr7 51097216 51097216 G A rs17656599 COBL Nonsynonymous SNV P526L 0.198 0.169 0.146 57 233 65 0.146 43 26 5 3 5 4.025 28615 chr19 58549366 58549366 C G rs159870 ZSCAN1 Synonymous SNV L54L 0.697 0.706 0.684 292 818 271 0.749 201 284 94 66 108 9.766 28616 chr19 58572979 58572979 G A rs1469087 ZNF135 Nonsynonymous SNV G34D 0.92 0.917 0.898 365 1080 352 0.936 264 494 161 118 170 1.144 28617 chr7 51287470 51287470 A G rs801142 COBL Synonymous SNV S71S 0.671 0.641 0.673 249 788 246 0.638 198 261 85 68 83 4.718 28618 chr19 5866654 5866654 A G rs778983 FUT5 Synonymous SNV S361S 0.781 0.799 0.803 299 917 307 0.767 236 365 124 93 110 0.073 28619 chr7 53103425 53103425 C A rs10229800 POM121L12 Nonsynonymous SNV P21T 0.096 0.083 0.112 40 113 32 0.103 33 8 1 4 2 7.66 28620 chr19 5866736 5866736 T C rs778984 FUT5 Nonsynonymous SNV H334R 0.171 0.174 0.282 91 201 67 0.233 83 8 4 18 6 Benign 0.002 28621 chr7 2969680 2969680 G A rs1621509 CARD11 Synonymous SNV D533D 0.164 0.185 0.207 80 192 71 0.205 61 21 7 3 8 Benign 3.7 28622 chr7 53103554 53103554 C G rs11238247 POM121L12 Nonsynonymous SNV Q64E 0.551 0.573 0.486 203 647 220 0.521 143 181 63 40 52 6.087 28623 chr19 5867154 5867154 G A rs140776824 FUT5 Nonsynonymous SNV P195S 0.077 0.081 0.082 17 90 31 0.044 24 4 0 1 0 0.001 28624 chr7 4050731 4050731 C T rs61752593 SDK1 Synonymous SNV S755S 0.12 0.133 0.126 66 141 51 0.169 37 12 4 2 5 15.93 28625 chr17 78865630 78865630 A G rs2289765 RPTOR Synonymous SNV A540A 0.157 0.143 0.146 57 184 55 0.146 43 11 5 4 5 0.691 28626 chr7 53103571 53103571 G A rs11238248 POM121L12 Synonymous SNV G69G 0.55 0.573 0.486 203 646 220 0.521 143 180 63 40 52 0.145 28627 chr19 58774071 58774071 A G rs260462 ZNF544 Nonsynonymous SNV Q672R 0.613 0.628 0.656 250 720 241 0.641 193 222 76 66 76 0.063 28628 chr7 53103794 53103794 C T rs73357087 POM121L12 Nonsynonymous SNV P144S 0.096 0.083 0.116 40 113 32 0.103 34 9 1 4 2 22.6 28629 chr19 58790359 58790359 C A rs11666156 ZNF8-ERVK3-1 0 0 0.418 0 0 0 0 123 0 0 37 0 11.25 28630 chr17 8792003 8792003 C T rs9915880 PIK3R5 Synonymous SNV S367S 0.337 0.31 0.306 137 396 119 0.351 90 64 26 17 20 Benign 15.3 28631 chr19 58790675 58790675 T C rs437229 ZNF8-ERVK3-1 0.709 0.737 0.738 286 832 283 0.733 217 289 104 78 102 0.024 28632 chr7 53103946 53103946 G C rs12113170 POM121L12 Synonymous SNV G194G 0.551 0.573 0.486 203 647 220 0.521 143 181 63 40 52 0.092 28633 chr19 58790713 58790713 G C rs374431 ZNF8-ERVK3-1 0.705 0.732 0.728 283 828 281 0.726 214 285 103 77 99 0.021 28634 chr7 4189075 4189075 G C rs659182 SDK1 Synonymous SNV A22A 0.619 0.698 0.687 260 727 268 0.667 202 220 94 71 82 6.716 28635 chr17 71228379 71228379 G C rs180917408 FAM104A Nonsynonymous SNV P23A 0.013 0.01 0.02 6 15 4 0.015 6 0 0 0 0 13.68 28636 chr7 55214348 55214348 C T rs2072454 EGFR Synonymous SNV N158N 0.45 0.451 0.517 166 528 173 0.426 152 121 35 36 35 Benign 15.58 28637 chr17 8792093 8792093 G A rs16957702 PIK3R5 Synonymous SNV D337D 0.337 0.31 0.306 137 396 119 0.351 90 64 26 17 20 Benign 0.227 28638 chr19 58790807 58790807 T G rs260501 ZNF8-ERVK3-1 0.705 0.734 0.51 284 828 282 0.728 150 285 103 62 100 0.866 28639 chr7 55238874 55238874 T A rs2227984 EGFR Synonymous SNV T362T 0.44 0.43 0.449 166 516 165 0.426 132 119 34 28 32 Benign 4.868 28640 chr19 58791213 58791213 C A rs260500 ZNF8-ERVK3-1 0 0 0.724 0 0 0 0 213 0 0 76 0 8.27 28641 chr17 79096115 79096115 C T rs61738821 AATK Nonsynonymous SNV A438T 0.161 0.161 0.15 73 189 62 0.187 44 18 7 4 8 9.364 28642 chr17 8792171 8792171 T C rs11650737 PIK3R5 Synonymous SNV L311L 0.338 0.31 0.276 137 397 119 0.351 81 65 26 17 20 Benign 3.212 28643 chr19 58791253 58791254 TA - rs5828756 ZNF8-ERVK3-1 0 0 0.361 0 0 0 0 106 0 0 2 0 28644 chr7 55249063 55249063 G A rs1050171 EGFR Synonymous SNV Q520Q 0.628 0.664 0.643 257 737 255 0.659 189 227 90 65 82 Benign 17.57 28645 chr19 58806083 58806083 T C rs260471 ZNF8 Synonymous SNV H303H 0.207 0.237 0.238 69 243 91 0.177 70 22 12 12 9 0.028 28646 chr17 79164488 79164488 C T rs117616373 CEP131 Nonsynonymous SNV A984T 0.078 0.049 0.044 26 91 19 0.067 13 1 1 1 0 12.5 28647 chr17 80887244 80887244 T C rs1127986 TBCD Synonymous SNV D953D 0.306 0.26 0.262 117 359 100 0.3 77 53 12 10 17 0.111 28648 chr19 58850567 58850567 C T rs145683189 ZSCAN22 Nonsynonymous SNV L451F 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.7 28649 chr7 55266417 55266417 T C rs1140475 EGFR Synonymous SNV T636T 0.899 0.909 0.912 357 1056 349 0.915 268 471 158 122 163 3.658 28650 chr17 9066248 9066248 C T rs55687153 NTN1 Synonymous SNV H379H 0.022 0.029 0.017 15 26 11 0.038 5 0 0 0 0 13.46 28651 chr7 56007576 56007576 C T rs34016595 ZNF713 Synonymous SNV C390C 0.335 0.339 0.32 142 393 130 0.364 94 66 22 21 24 12.72 28652 chr19 58864150 58864150 T C rs6510137 A1BG-AS1 0.934 0.951 0.915 359 1097 365 0.921 269 511 174 127 165 0.104 28653 chr7 4308362 4308362 C T rs8514 SDK1 Nonsynonymous SNV R674C 0.161 0.185 0.167 65 189 71 0.167 49 12 9 5 8 5.584 28654 chr17 7906489 7906494 CTGCTT - rs552184470 GUCY2D L44_L45del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28655 chr17 9066254 9066254 T C rs2286511 NTN1 Synonymous SNV H381H 0.024 0.031 0.024 18 28 12 0.046 7 0 0 0 0 4.577 28656 chr17 79166136 79166136 G A rs113590232 CEP131 Synonymous SNV A832A 0.063 0.055 0.048 27 74 21 0.069 14 0 0 0 0 13.65 28657 chr19 58864479 58864479 T C rs893184 A1BG Nonsynonymous SNV H52R 0.938 0.953 0.932 359 1101 366 0.921 274 514 175 127 165 1.484 28658 chr7 63981563 63981563 A G rs10243954 ZNF680 Synonymous SNV C523C 0.509 0.544 0.463 174 598 209 0.446 136 142 52 43 37 0.012 28659 chr7 63986829 63986829 G C rs73128772 ZNF680 Nonsynonymous SNV S107C 0.199 0.208 0.218 71 234 80 0.182 64 25 13 5 5 7.28 28660 chr19 58868480 58868480 G T rs12609654 ZNF497 Nonsynonymous SNV H174Q 0.492 0.529 0.5 199 578 203 0.51 147 138 59 39 51 8.165 28661 chr7 64168493 64168493 G T rs117361085 ZNF107 Nonsynonymous SNV G641V 0.01 0.008 0.007 7 12 3 0.018 2 1 0 0 0 Likely benign 24.9 28662 chr19 58879965 58879965 A G rs7255489 ZNF837 Synonymous SNV S245S 0.928 0.945 0.935 351 1089 363 0.9 275 503 174 128 157 0.599 28663 chr19 58879976 58879976 C T rs7255596 ZNF837 Nonsynonymous SNV A242T 0.928 0.945 0.935 350 1089 363 0.897 275 503 174 128 156 0.027 28664 chr7 4825245 4825245 C T rs192441133 AP5Z1 Synonymous SNV H198H 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.727 28665 chr7 64168806 64168806 T C rs4718103 ZNF107 Synonymous SNV T745T 0.421 0.432 0.136 145 494 166 0.372 40 103 38 17 21 8.417 28666 chr7 64169019 64169019 G A rs4717205 ZNF107 Synonymous SNV E816E 0.807 0.815 0.616 291 947 313 0.746 181 405 134 81 114 4.887 28667 chr19 58898193 58898193 C T rs975947 MIR4754 0 0 0.466 0 0 0 0 137 0 0 37 0 6.619 28668 chr17 9676134 9676134 G A rs2280490 DHRS7C Nonsynonymous SNV S226L 0.127 0.112 0.109 46 149 43 0.118 32 10 1 0 4 23.2 28669 chr7 64291333 64291333 T A rs4483043 ZNF138 Nonsynonymous SNV F49Y 0.997 1 0.997 389 1171 384 0.997 293 584 192 146 194 5.873 28670 chr19 58908150 58908150 C G rs13343526 RNF225 Nonsynonymous SNV P232A 0.849 0.87 0.81 318 997 334 0.815 238 429 146 108 130 0.022 28671 chr17 71241322 71241325 GTAA - rs202220073 C17orf80 K547Sfs*8 0.01 0.013 0.017 4 12 5 0.01 5 0 0 0 0 28672 chr19 58927215 58927215 C T rs12986387 ZNF584 Nonsynonymous SNV R100C 0.264 0.229 0.231 105 310 88 0.269 68 37 9 7 13 7.889 28673 chr17 9676148 9676148 C T rs2280489 DHRS7C Synonymous SNV P221P 0.127 0.112 0.109 46 149 43 0.118 32 10 1 0 4 9.11 28674 chr7 4901191 4901191 T C rs3750010 PAPOLB Nonsynonymous SNV K84R 0.095 0.078 0.088 47 112 30 0.121 26 2 2 1 5 1.296 28675 chr7 64291976 64291976 G A rs10949946 ZNF138 Nonsynonymous SNV G93E 0.549 0.518 0.473 226 645 199 0.579 139 177 54 36 60 0.007 28676 chr17 7915912 7915912 C T rs34598902 GUCY2D Nonsynonymous SNV P701S 0.026 0.016 0.031 1 30 6 0.003 9 0 0 1 0 Benign/Likely benign 22.3 28677 chr19 58928299 58928299 A T rs11668757 ZNF584 Synonymous SNV A93A 0.264 0.229 0.231 105 310 88 0.269 68 37 9 7 13 0.118 28678 chr17 9680515 9680515 G A rs374278019 DHRS7C Nonsynonymous SNV T189M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 28679 chr19 58928302 58928302 T C rs10423138 ZNF584 Synonymous SNV A94A 0.502 0.477 0.466 196 589 183 0.503 137 143 42 30 48 0.231 28680 chr7 4901385 4901385 A C rs3750009 PAPOLB Nonsynonymous SNV N19K 0.388 0.38 0.364 149 456 146 0.382 107 93 18 27 32 0.003 28681 chr19 58928309 58928309 C T rs11668789 ZNF584 Nonsynonymous SNV P97S 0.264 0.229 0.231 105 310 88 0.269 68 37 9 7 13 0.939 28682 chr7 64291987 64291987 G A rs35742014 ZNF138 Nonsynonymous SNV G97S 0.042 0.021 0.048 14 49 8 0.036 14 1 0 1 0 0.044 28683 chr17 7296992 7296992 G C rs765324845 PLSCR3 Synonymous SNV P57P 0.003 0 0 0 4 0 0 0 0 0 0 0 8.536 28684 chr17 9712255 9712255 G A rs9908677 GSG1L2 Synonymous SNV L135L 0.482 0.43 0.446 184 566 165 0.472 131 148 37 30 42 3.69 28685 chr7 5105133 5105133 C T rs12334144 RBAK Synonymous SNV N682N 0.582 0.609 0.612 221 683 234 0.567 180 188 70 56 60 12.12 28686 chr19 58929052 58929052 G A rs3764535 ZNF584 Synonymous SNV K344K 0.501 0.471 0.463 195 588 181 0.5 136 142 41 29 47 13.11 28687 chr7 64291991 64291991 T A rs4236203 ZNF138 Nonsynonymous SNV F98Y 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.003 28688 chr7 5112108 5112108 G T rs6862 RBAKDN 0.448 0.469 0.381 169 526 180 0.433 112 113 42 28 35 6.625 28689 chr19 58929136 58929136 G A rs3764534 ZNF584 Synonymous SNV K372K 0.502 0.474 0.466 196 589 182 0.503 137 143 42 30 48 7.342 28690 chr17 71468334 71468334 C T rs773293230 SDK2 Nonsynonymous SNV R83H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 28691 chr19 58945089 58945089 A G rs3764529 ZNF132 Synonymous SNV N574N 0.258 0.224 0.211 105 303 86 0.269 62 37 9 7 13 7.174 28692 chr7 64389089 64389089 A C rs2017252 ZNF273 Nonsynonymous SNV E461D 0.532 0.542 0.456 227 624 208 0.582 134 159 54 37 62 21.4 28693 chr19 58945962 58945962 C T rs9941466 ZNF132 Synonymous SNV K283K 0.944 0.94 0.946 365 1108 361 0.936 278 523 171 131 170 10.29 28694 chr7 5112554 5112554 A C rs1130329 RBAKDN 0.385 0.398 0.306 153 452 153 0.392 90 76 31 23 27 1.018 28695 chr19 58946056 58946056 G A rs1465789 ZNF132 Nonsynonymous SNV P252L 0.496 0.474 0.463 196 582 182 0.503 136 143 42 30 49 0.013 28696 chr17 9725101 9725101 G A rs8067929 GSG1L2 Synonymous SNV C96C 0.129 0.146 0.119 47 152 56 0.121 35 13 1 1 1 12.21 28697 chr7 64438667 64438667 G A rs1404453 ERV3-1-ZNF117, ZNF117 Stop gain R428X 0.953 0.961 0.935 374 1119 369 0.959 275 532 177 131 179 29.3 28698 chr17 79225330 79225330 C A rs55872261 SLC38A10 Nonsynonymous SNV E676D 0.063 0.044 0.068 22 74 17 0.056 20 1 1 1 1 24 28699 chr17 9745903 9745903 A G rs114610622 GLP2R Synonymous SNV E158E 0.037 0.036 0.031 13 44 14 0.033 9 2 1 0 0 8.123 28700 chr19 58946203 58946203 C T rs1122955 ZNF132 Nonsynonymous SNV G203D 0.258 0.227 0.228 105 303 87 0.269 67 37 9 7 13 0.032 28701 chr7 64439613 64439613 T G rs3807068 ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV K112N 0.277 0.305 0.31 101 325 117 0.259 91 46 25 16 12 12.11 28702 chr7 5257573 5257573 G A rs1134489 WIPI2 Synonymous SNV P140P 0.119 0.133 0.15 45 140 51 0.115 44 13 4 4 3 11.15 28703 chr18 10666600 10666600 G T rs562793 LOC101927410 0.992 0.995 0 388 1165 382 0.995 0 578 190 0 193 1.099 28704 chr17 79226264 79226264 T C rs35546507 SLC38A10 Nonsynonymous SNV K559R 0.076 0.052 0.078 28 89 20 0.072 23 1 1 1 1 5.357 28705 chr19 58982384 58982384 A G rs10418774 ZNF324 Synonymous SNV R175R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.025 28706 chr18 10681711 10681711 C T rs3748428 PIEZO2 Nonsynonymous SNV V2463I 0.144 0.099 0.177 53 169 38 0.136 52 16 0 8 3 Benign 23.8 28707 chr19 603625 603625 T C rs56342526 HCN2 Synonymous SNV D238D 0.147 0.135 0.153 50 172 52 0.128 45 13 3 1 5 0.003 28708 chr7 64451656 64451656 G A rs4718177 ERV3-1 Synonymous SNV V583V 0.288 0.32 0.35 102 338 123 0.262 103 46 25 16 12 6.702 28709 chr7 64451699 64451699 T C rs4717229 ERV3-1 Nonsynonymous SNV N569S 0.953 0.961 0.959 374 1119 369 0.959 282 532 177 135 179 21.9 28710 chr19 603634 603634 T C rs56131056 HCN2 Synonymous SNV T241T 0.147 0.135 0.153 50 172 52 0.128 45 13 3 1 5 0.011 28711 chr17 79009061 79009061 C T rs8068528 BAIAP2 Synonymous SNV L3L 0.1 0.083 0.116 34 117 32 0.087 34 2 4 2 3 12.07 28712 chr19 603769 603769 T C rs55659726 HCN2 Synonymous SNV Y286Y 0.151 0.141 0.16 50 177 54 0.128 47 14 4 2 5 0.087 28713 chr17 7948175 7948175 C T rs6503070 ALOX15B Synonymous SNV D235D 0.406 0.354 0.391 141 477 136 0.362 115 101 23 25 28 15.9 28714 chr17 8172506 8172506 T G rs62637606 PFAS Nonsynonymous SNV F1314C 0.095 0.102 0.068 34 111 39 0.087 20 3 3 0 1 21.6 28715 chr19 603826 603826 C T rs56170955 HCN2 Synonymous SNV F305F 0.151 0.141 0.156 50 177 54 0.128 46 14 4 2 5 12.38 28716 chr7 64451963 64451963 T C rs4618579 ERV3-1 Nonsynonymous SNV N481S 0.953 0.961 0.959 374 1119 369 0.959 282 532 177 135 179 0.057 28717 chr17 79495969 79495969 C T rs143796236 FSCN2 Nonsynonymous SNV H138Y 0.014 0.013 0.014 5 16 5 0.013 4 0 0 0 0 Benign 25.9 28718 chr19 603874 603874 C T rs55780677 HCN2 Synonymous SNV R321R 0.149 0.141 0.153 50 175 54 0.128 45 14 4 2 5 15.61 28719 chr18 10705744 10705744 G A rs7227022 PIEZO2 Synonymous SNV S1750S 0.206 0.164 0.197 75 242 63 0.192 58 23 4 9 8 Benign 0.215 28720 chr19 6156483 6156483 T C rs4807840 ACSBG2 Nonsynonymous SNV V143A 0.7 0.656 0.728 280 822 252 0.718 214 286 82 76 100 1.391 28721 chr7 64452830 64452830 C T rs34639489 ERV3-1 Nonsynonymous SNV C192Y 0.663 0.641 0.609 272 778 246 0.697 179 248 82 54 91 23.4 28722 chr18 10748603 10748603 A T rs8096037 PIEZO2 Synonymous SNV L1405L 0.596 0.607 0.537 225 700 233 0.577 158 226 78 45 70 Benign 0.034 28723 chr17 79502218 79502218 G A rs186367879 FSCN2 Nonsynonymous SNV A323T 0.029 0.049 0.037 15 34 19 0.038 11 0 0 0 1 Benign 23.9 28724 chr7 5529758 5529758 G A rs28566736 FBXL18 Nonsynonymous SNV R696C 0.469 0.479 0.435 179 551 184 0.459 128 128 46 32 40 0.415 28725 chr19 617614 617614 G A rs41551212 POLRMT Synonymous SNV I1179I 0.175 0.188 0.207 71 206 72 0.182 61 16 9 8 9 8.974 28726 chr17 7340817 7340817 G T rs544638597 TMEM102 Nonsynonymous SNV A507S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.82 28727 chr18 10752666 10752666 C T rs7234309 PIEZO2 Nonsynonymous SNV V1354I 0.349 0.372 0.296 128 410 143 0.328 87 80 32 10 21 Benign 21.7 28728 chr19 619021 619021 G C rs14155 POLRMT Synonymous SNV P1081P 0.579 0.589 0.551 237 680 226 0.608 162 197 72 50 72 0.121 28729 chr7 64453136 64453136 G A rs6460219 ERV3-1 Nonsynonymous SNV T90I 0.953 0.961 0.959 374 1119 369 0.959 282 532 177 135 179 15.41 28730 chr17 7950377 7950377 C T rs11541083 ALOX15B Synonymous SNV I451I 0.296 0.279 0.313 109 348 107 0.279 92 51 13 18 20 14.33 28731 chr19 621280 621280 G A rs747856783 POLRMT Synonymous SNV T806T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 28732 chr17 7343100 7343100 G A rs578202767 FGF11 Nonsynonymous SNV G54E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 26.1 28733 chr19 622336 622336 T G rs2238549 POLRMT Nonsynonymous SNV E555A 0.573 0.586 0.439 236 673 225 0.605 129 194 73 42 72 0.442 28734 chr17 8222870 8222870 C T rs79993581 ARHGEF15 Nonsynonymous SNV R775W 0.042 0.034 0.02 14 49 13 0.036 6 6 0 0 0 Benign 24.8 28735 chr7 65425894 65425894 A G rs9530 GUSB Nonsynonymous SNV L503P 0.62 0.599 0.599 243 728 230 0.623 176 230 73 53 76 Benign 0.37 28736 chr7 5541657 5541657 G A rs4724704 FBXL18 Synonymous SNV S81S 0.632 0.62 0.571 242 742 238 0.621 168 233 71 50 79 7.43 28737 chr19 625198 625198 A G rs1056766 POLRMT Synonymous SNV T293T 0.595 0.609 0.578 241 698 234 0.618 170 209 78 52 76 0.305 28738 chr17 7950952 7950952 C A rs9898751 ALOX15B Synonymous SNV S476S 0.325 0.289 0.35 115 381 111 0.295 103 62 15 20 23 17.16 28739 chr19 629846 629846 G A rs11550305 POLRMT Synonymous SNV A172A 0.18 0.198 0.207 71 211 76 0.182 61 17 10 9 9 8.55 28740 chr7 66098384 66098384 G A rs3764904 KCTD7 Synonymous SNV T89T 0.111 0.089 0.136 39 130 34 0.1 40 11 1 2 3 Benign 13.34 28741 chr17 7187921 7187921 G A rs775685895 SLC2A4 Nonsynonymous SNV R282H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.78 28742 chr17 79166384 79166384 C T rs3744150 CEP131 Synonymous SNV A777A 0.073 0.073 0.068 35 86 28 0.09 20 4 2 3 1 15.32 28743 chr19 6387444 6387444 C T rs369502874 GTF2F1 Synonymous SNV R151R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.54 28744 chr7 6063283 6063283 C T rs4560 AIMP2 Synonymous SNV N239N 0.478 0.479 0.51 201 561 184 0.515 150 136 46 40 52 13.99 28745 chr17 7951819 7951819 A G rs4792147 ALOX15B Nonsynonymous SNV Q582R 0.485 0.417 0.493 167 569 160 0.428 145 133 34 40 35 1.28 28746 chr19 6411830 6411830 C G rs113579663 LOC390877 Nonsynonymous SNV D89E 0.086 0.086 0.075 37 101 33 0.095 22 3 2 0 4 7.977 28747 chr7 70885993 70885993 C T rs61737661 GALNT17 Synonymous SNV Y288Y 0.076 0.091 0.095 20 89 35 0.051 28 3 0 3 1 12.56 28748 chr17 79169641 79169641 G A rs61741559 CEP131 Synonymous SNV H670H 0.065 0.052 0.065 30 76 20 0.077 19 4 2 2 0 0.327 28749 chr7 6071060 6071060 G A rs4724769 ANKRD61 Synonymous SNV K18K 0.543 0.526 0.544 216 638 202 0.554 160 173 54 46 65 7.544 28750 chr19 6415443 6415443 T C rs1616305 KHSRP Synonymous SNV A638A 0.994 0.984 0.997 386 1167 378 0.99 293 580 186 146 191 6.876 28751 chr7 72891754 72891754 C T rs2074754 BAZ1B Synonymous SNV S679S 0.412 0.393 0.48 171 484 151 0.438 141 92 20 34 33 10.13 28752 chr17 79170578 79170578 C T rs4613097 CEP131 Nonsynonymous SNV A608T 0.066 0.052 0.075 29 78 20 0.074 22 4 1 2 0 25.3 28753 chr19 6416489 6416489 G A rs200038066 MIR3940 0 0 0.003 2 0 0 0.005 1 0 0 0 0 2.506 28754 chr18 10787047 10787047 G A rs6505592 PIEZO2 Synonymous SNV L769L 0.865 0.859 0.871 330 1015 330 0.846 256 437 142 115 140 Benign 3.281 28755 chr7 6075823 6075823 A T rs2302334 ANKRD61 Nonsynonymous SNV M355L 0.543 0.529 0.551 218 638 203 0.559 162 174 54 47 65 6.641 28756 chr7 73020301 73020301 T C rs799157 MLXIPL Synonymous SNV S253S 0.941 0.943 0.929 368 1105 362 0.944 273 521 170 126 173 2.151 28757 chr19 6477256 6477256 G T rs348398 DENND1C Synonymous SNV P118P 0.673 0.62 0.639 262 790 238 0.672 188 270 72 62 91 0.078 28758 chr18 11752498 11752498 C T rs73397885 GNAL Synonymous SNV R22R 0.014 0.013 0.007 5 16 5 0.013 2 0 0 0 0 Benign 21.8 28759 chr19 6665020 6665020 T C rs344560 TNFSF14 Nonsynonymous SNV K178E 0.926 0.935 0.959 368 1087 359 0.944 282 506 169 135 173 4.615 28760 chr7 6204999 6204999 A C rs2301910 CYTH3 Synonymous SNV T177T 0.678 0.68 0.711 277 796 261 0.71 209 279 84 72 98 0.057 28761 chr7 73097238 73097238 G A rs1569062 DNAJC30 Synonymous SNV Y172Y 0.28 0.253 0.248 106 329 97 0.272 73 51 16 7 16 11.69 28762 chr17 8272767 8272767 G A rs2430949 KRBA2 Synonymous SNV L306L 0.112 0.096 0.109 31 132 37 0.079 32 16 2 3 1 0.257 28763 chr7 73097654 73097654 C T rs1128349 DNAJC30 Nonsynonymous SNV G34R 0.465 0.492 0.486 187 546 189 0.479 143 131 47 35 42 4.581 28764 chr17 72306291 72306291 G A rs28725418 DNAI2 Nonsynonymous SNV V483I 0.072 0.07 0.054 25 84 27 0.064 16 4 1 0 1 Benign 2.062 28765 chr19 6669934 6669934 G A rs2291668 TNFSF14 Synonymous SNV A49A 0.156 0.133 0.129 46 183 51 0.118 38 14 3 2 3 7.345 28766 chr19 6677989 6677989 G A rs17030 C3 Synonymous SNV P1632P 0.504 0.544 0.537 178 592 209 0.456 158 149 59 40 34 Benign 6.783 28767 chr19 6697406 6697406 A G rs423490 C3 Synonymous SNV A915A 0.815 0.807 0.82 305 957 310 0.782 241 395 125 96 117 Benign 0.008 28768 chr7 73122923 73122923 A G rs2228607 STX1A Synonymous SNV D68D 0.616 0.648 0.622 236 723 249 0.605 183 230 81 61 71 6 28769 chr17 8658911 8658911 T C rs375104784 SPDYE4 Nonsynonymous SNV M138V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.63 28770 chr19 6709848 6709848 C T rs2230204 C3 Synonymous SNV V564V 0.251 0.266 0.299 108 295 102 0.277 88 45 11 14 17 Benign 6.307 28771 chr7 73249165 73249165 T A rs13246460 METTL27 Nonsynonymous SNV R216W 0.677 0.708 0.66 282 795 272 0.723 194 267 96 67 103 26.3 28772 chr7 6591041 6591041 C G rs4724818 GRID2IP Synonymous SNV T9T 0.46 0.477 0.452 167 540 183 0.428 133 122 44 32 33 13.7 28773 chr19 6731057 6731057 T C rs2279624 GPR108 Synonymous SNV G500G 0.784 0.755 0.789 306 921 290 0.785 232 365 113 93 119 0.029 28774 chr17 8701116 8701116 G A rs2242374 MFSD6L Synonymous SNV L441L 0.088 0.073 0.095 37 103 28 0.095 28 5 1 1 1 10.46 28775 chr19 6737481 6737481 T C rs340138 GPR108 Nonsynonymous SNV Q36R 0.874 0.849 0.867 334 1026 326 0.856 255 448 139 115 141 11.35 28776 chr7 73249299 73249299 G C rs13232463 METTL27 Nonsynonymous SNV S171W 0.674 0.708 0.65 282 791 272 0.723 191 267 96 67 103 24.3 28777 chr17 8701799 8701799 G T rs17854013 MFSD6L Nonsynonymous SNV P214T 0.199 0.18 0.177 87 234 69 0.223 52 27 5 5 9 8.83 28778 chr18 12115509 12115509 G A rs4519391 ANKRD62 Nonsynonymous SNV E406K 0.717 0.721 0.578 273 842 277 0.7 170 317 106 56 101 19.17 28779 chr19 6737509 6737509 G A rs339401 GPR108 Synonymous SNV L27L 0.876 0.849 0.864 334 1028 326 0.856 254 450 139 115 141 4.186 28780 chr7 73254812 73254812 T C rs13241921 METTL27 Nonsynonymous SNV Q107R 0.634 0.68 0.527 278 744 261 0.713 155 266 94 59 103 0.001 28781 chr19 6850767 6850767 C T rs36097961 VAV1 Nonsynonymous SNV T717M 0.02 0.013 0.034 9 24 5 0.023 10 0 0 0 0 Benign 14.78 28782 chr18 12254816 12254816 A G rs7505615 CIDEA Star tloss M1? 0.207 0.193 0.211 59 243 74 0.151 62 29 5 9 2 6.757 28783 chr17 75478411 75478411 G A rs367749123 SEPTIN9 Nonsynonymous SNV V191M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 31 28784 chr17 79986156 79986156 C T rs72861736 LRRC45 Nonsynonymous SNV A365V 0.069 0.081 0.068 27 81 31 0.069 20 2 1 0 2 20.5 28785 chr18 12274104 12274104 G T rs11545881 CIDEA Nonsynonymous SNV V115F 0.41 0.396 0.367 167 481 152 0.428 108 99 29 17 33 0.398 28786 chr7 73275565 73275565 T A rs11770052 TMEM270 Nonsynonymous SNV I14N 0.687 0.701 0.639 280 807 269 0.718 188 273 93 65 102 15.45 28787 chr19 687142 687142 G A rs8102982 PRSS57 Nonsynonymous SNV P142L 0.997 1 0.986 389 1170 384 0.997 290 583 192 143 194 2.537 28788 chr17 79994600 79994600 C T rs9780 DCXR Synonymous SNV S113S 0.077 0.089 0.078 29 90 34 0.074 23 5 2 1 3 11.95 28789 chr7 73279482 73279482 T C rs13227841 TMEM270 Nonsynonymous SNV W78R 0.652 0.654 0.646 252 765 251 0.646 190 252 83 63 85 0.001 28790 chr18 12320739 12320739 G A rs8087843 TUBB6 Synonymous SNV L26L 0.817 0.815 0 326 959 313 0.836 0 393 125 0 136 2.602 28791 chr19 6901891 6901891 G A rs897738 ADGRE1 Nonsynonymous SNV D122N 0.281 0.32 0.279 113 330 123 0.29 82 44 15 15 18 0.483 28792 chr17 79912164 79912164 G A rs79066457 NOTUM Synonymous SNV P384P 0.07 0.07 0.054 27 82 27 0.069 16 3 1 2 1 12.26 28793 chr17 73727435 73727435 C T rs200122430 ITGB4 Nonsynonymous SNV R401W 0.008 0 0.003 0 9 0 0 1 0 0 0 0 Uncertain significance 25.6 28794 chr17 7948565 7948565 C T rs772722619 ALOX15B Synonymous SNV L287L 0 0.005 0 0 0 2 0 0 0 0 0 0 12.9 28795 chr17 72368049 72368049 G A rs368419154 GPR142 Synonymous SNV T145T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.349 28796 chr7 6682607 6682607 C G rs145062142 ZNF316 Nonsynonymous SNV S123C 0.023 0.026 0.027 6 27 10 0.015 8 1 0 1 0 5.436 28797 chr17 79495890 79495890 C T rs117946784 FSCN2 Synonymous SNV F111F 0.018 0.008 0.007 3 21 3 0.008 2 2 0 0 0 Benign 9.285 28798 chr19 6903920 6903920 A G rs443658 ADGRE1 Nonsynonymous SNV N113S 0.282 0.32 0.279 112 331 123 0.287 82 44 15 15 17 0.003 28799 chr7 73280020 73280020 C T rs1136647 TMEM270 Synonymous SNV T205T 0.566 0.565 0.565 212 664 217 0.544 166 190 61 51 60 12.3 28800 chr17 79991603 79991603 C T rs4969478 RAC3 Nonsynonymous SNV P161S 0.05 0.055 0.048 19 59 21 0.049 14 3 1 1 0 17.51 28801 chr17 7577091 7577091 G A rs149633775 TP53 Nonsynonymous SNV R151C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Uncertain significance 26.1 28802 chr7 6692139 6692139 G A rs890508058 ZNF316 Synonymous SNV L304L 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.003 28803 chr7 73753250 73753250 T C rs539518 CLIP2 Synonymous SNV T198T 0.725 0.716 0.701 282 851 275 0.723 206 302 102 75 101 2.058 28804 chr18 12718593 12718593 A G rs2302768 PSMG2 Synonymous SNV S122S 0.405 0.464 0.422 181 476 178 0.464 124 101 37 27 39 0.281 28805 chr19 6904137 6904137 C T rs370094 ADGRE1 Nonsynonymous SNV A157V 0.282 0.32 0.279 113 331 123 0.29 82 44 15 15 18 0.001 28806 chr7 73814749 73814749 G C rs2522943 CLIP2 Nonsynonymous SNV R942P 0.989 0.982 0.976 384 1161 377 0.985 287 574 185 140 189 18.33 28807 chr19 6913707 6913707 C T rs466876 ADGRE1 Nonsynonymous SNV T248M 0.198 0.216 0.211 74 232 83 0.19 62 18 9 8 6 15.33 28808 chr7 7493122 7493122 A G rs17519199 COL28A1 Synonymous SNV I463I 0.066 0.068 0.068 36 78 26 0.092 20 4 1 0 2 10.63 28809 chr17 9674901 9674901 C T rs114469918 DHRS7C Synonymous SNV K280K 0.035 0.044 0.065 15 41 17 0.038 19 1 1 0 1 14.84 28810 chr7 74489486 74489486 T C rs6955671 RCC1L Nonsynonymous SNV R30G 0.542 0.529 0.616 212 636 203 0.544 181 180 55 56 65 0.012 28811 chr19 6913811 6913811 A G rs457857 ADGRE1 Nonsynonymous SNV I283V 0.708 0.732 0.687 295 831 281 0.756 202 296 105 69 108 0.002 28812 chr17 9674922 9674922 A G rs11654889 DHRS7C Synonymous SNV F273F 0.045 0.068 0.085 23 53 26 0.059 25 2 2 0 1 1.518 28813 chr17 72610090 72610090 G A rs138852023 CD300E Synonymous SNV T157T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.364 28814 chr7 75442730 75442730 T G rs2302006 CCL24 Nonsynonymous SNV I29L 0.239 0.198 0.228 73 281 76 0.187 67 30 7 8 7 0.868 28815 chr18 13001523 13001523 G A rs11080618 CEP192 Nonsynonymous SNV G78R 0.385 0.391 0.384 150 452 150 0.385 113 86 32 25 33 6.067 28816 chr17 9674976 9674976 T C rs11655932 DHRS7C Synonymous SNV V255V 0.047 0.068 0.085 23 55 26 0.059 25 2 2 0 1 1.865 28817 chr19 691909 691909 T C rs4375794 PRSS57 Synonymous SNV T109T 0.761 0.818 0.738 305 893 314 0.782 217 341 130 79 118 0.003 28818 chr17 80041398 80041398 G A rs2229426 FASN Nonsynonymous SNV P1779L 0.016 0.008 0.003 4 19 3 0.01 1 0 0 0 0 Benign 15.09 28819 chr19 6919624 6919624 A C rs373533 ADGRE1 Nonsynonymous SNV K355Q 0.716 0.727 0.704 292 841 279 0.749 207 307 103 71 106 0.009 28820 chr18 13056333 13056333 C T rs2282541 CEP192 Synonymous SNV H1248H 0.373 0.38 0.364 142 438 146 0.364 107 74 23 22 28 9.634 28821 chr7 75513062 75513062 A G rs42183 RHBDD2 Synonymous SNV A75A 0.982 0.982 0.976 383 1153 377 0.982 287 566 185 140 188 0.222 28822 chr7 7712942 7712956 AGCAGCAGCAGCAGC - UMAD1 0.019 0.023 0.007 7 22 9 0.018 2 3 1 0 0 28823 chr17 80044211 80044211 G A rs41283365 FASN Synonymous SNV G1217G 0.175 0.169 0.17 80 206 65 0.205 50 15 6 1 7 10.96 28824 chr19 6919753 6919753 A G rs461645 ADGRE1 Nonsynonymous SNV I398V 0.708 0.727 0.707 291 831 279 0.746 208 300 104 71 105 6.407 28825 chr17 80059690 80059690 G A rs61735692 CCDC57 Synonymous SNV G492G 0.041 0.042 0.024 13 48 16 0.033 7 0 0 0 0 0.118 28826 chr7 75610880 75610880 C T rs72557906 POR Synonymous SNV A229A 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 28827 chr19 6926378 6926378 T C rs2228539 ADGRE1 Nonsynonymous SNV M522T 0.276 0.266 0.265 108 324 102 0.277 78 46 14 12 12 0.001 28828 chr7 75614953 75614953 T C rs2228104 POR Synonymous SNV A485A 0.951 0.961 0.942 366 1116 369 0.938 277 530 177 130 172 Benign 0.406 28829 chr17 79660789 79660789 C T rs373129651 MIR6786 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.332 28830 chr19 6974564 6974564 C T rs466123 ADGRE4P 0 0 0.711 0 0 0 0 209 0 0 75 0 7.682 28831 chr19 6984708 6984708 G A rs7247453 ADGRE4P 0 0 0.707 0 0 0 0 208 0 0 75 0 0.483 28832 chr7 75615006 75615006 C T rs1057868 POR Nonsynonymous SNV A503V 0.27 0.31 0.299 110 317 119 0.282 88 49 15 14 13 Benign 8.85 28833 chr7 11509561 11509561 G C rs2285744 THSD7A Nonsynonymous SNV D771E 0.445 0.396 0.422 193 523 152 0.495 124 111 24 26 52 27.8 28834 chr19 7006048 7006048 G A rs12983790 FLJ25758 0 0 0.088 0 0 0 0 26 0 0 4 0 0.699 28835 chr18 10471732 10471732 G A rs3748415 APCDD1 Nonsynonymous SNV V150I 0.127 0.143 0.126 38 149 55 0.097 37 8 3 2 4 12.86 28836 chr19 7083629 7083629 A G rs966591 ZNF557 Synonymous SNV S389S 0.353 0.346 0.361 148 415 133 0.379 106 82 20 25 25 0.814 28837 chr17 80059597 80059597 C A rs778373349 CCDC57 Nonsynonymous SNV Q523H 0.003 0 0 0 4 0 0 0 0 0 0 0 14.65 28838 chr19 7166376 7166376 C T rs2059806 INSR Synonymous SNV A550A 0.257 0.188 0.218 93 302 72 0.238 64 41 7 5 10 Benign 9.202 28839 chr7 75615287 75615287 G A rs1057870 POR Synonymous SNV S572S 0.35 0.32 0.34 122 411 123 0.313 100 73 19 22 19 Benign 8.209 28840 chr17 79898933 79898933 G A rs62077244 MYADML2 Nonsynonymous SNV R229W 0.054 0.049 0.058 13 63 19 0.033 17 3 3 0 1 28.2 28841 chr19 731144 731144 A G rs1050457 PALM Nonsynonymous SNV T107A 0.462 0.438 0.469 167 542 168 0.428 138 112 36 33 43 0.003 28842 chr18 10471764 10471764 C T rs3748414 APCDD1 Synonymous SNV A160A 0.127 0.143 0.126 39 149 55 0.1 37 8 3 2 4 11.35 28843 chr7 75630274 75630274 T C rs8565 STYXL1, STYXL1 Synonymous SNV Q152Q 0.764 0.76 0.741 295 897 292 0.756 218 343 109 82 112 0.005 28844 chr18 10471773 10471773 C G rs3748413 APCDD1 Synonymous SNV L163L 0.127 0.143 0.126 39 149 55 0.1 37 8 3 2 4 6.656 28845 chr7 11581134 11581134 T C rs2074603 THSD7A Synonymous SNV A578A 0.479 0.5 0.418 189 562 192 0.485 123 130 51 19 49 9.766 28846 chr19 731176 731176 A G rs76698799 PALM Synonymous SNV P117P 0.083 0.076 0.037 25 98 29 0.064 11 5 2 0 1 0.007 28847 chr7 75659815 75659815 T C rs1044483 STYXL1 Synonymous SNV P9P 0.715 0.721 0.69 271 839 277 0.695 203 307 98 73 96 4.329 28848 chr19 746712 746712 C T rs10421265 PALM Synonymous SNV A310A 0.239 0.24 0.276 94 281 92 0.241 81 30 12 10 13 10.92 28849 chr17 73887349 73887349 G A rs748743117 TRIM65 Synonymous SNV H333H 0.009 0 0 0 10 0 0 0 0 0 0 0 0.254 28850 chr18 10487733 10487733 A G rs143975400 APCDD1 Nonsynonymous SNV I415V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 28851 chr7 75677504 75677504 C T rs6720 MDH2 Nonsynonymous SNV A9V 0.277 0.266 0.299 114 325 102 0.292 88 55 13 17 20 Benign 17.2 28852 chr19 7528734 7528734 A G rs2287918 ARHGEF18 Nonsynonymous SNV Q647R 0.77 0.784 0.816 306 904 301 0.785 240 350 118 99 125 0.003 28853 chr7 12263971 12263971 G A rs147889591 TMEM106B Nonsynonymous SNV S134N 0.024 0.023 0.014 7 28 9 0.018 4 0 0 1 0 17.81 28854 chr19 7533767 7533767 T G rs10405143 ARHGEF18 Synonymous SNV R937R 0.743 0.755 0.803 289 872 290 0.741 236 324 108 95 111 1.61 28855 chr7 75695613 75695613 A G rs10256 MDH2 Nonsynonymous SNV K259R 0.044 0.036 0.048 14 52 14 0.036 14 2 0 1 0 20.9 28856 chr19 7533850 7533850 A G rs9329368 ARHGEF18 Nonsynonymous SNV N965S 0.774 0.794 0.816 305 909 305 0.782 240 350 118 99 124 0.008 28857 chr17 80159665 80159665 G A rs11653797 CCDC57 Synonymous SNV C52C 0.211 0.208 0.211 96 248 80 0.246 62 22 11 2 11 8.568 28858 chr18 166819 166819 T C rs563155 USP14 Synonymous SNV N65N 0.118 0.156 0.173 58 138 60 0.149 51 11 3 3 6 14.19 28859 chr7 75914934 75914934 - C rs11402364 SRRM3 Frameshift insertion R606Pfs*70 1 1 0.942 389 1174 384 0.997 277 587 192 138 194 28860 chr17 76219685 76219685 G C rs17885521 BIRC5 Nonsynonymous SNV G121R 0.02 0.021 0.017 6 24 8 0.015 5 0 0 0 0 7.804 28861 chr19 7542168 7542168 G A rs11668511 PEX11G Nonsynonymous SNV L146F 0.029 0.023 0.034 8 34 9 0.021 10 0 0 0 0 26.5 28862 chr7 76019509 76019509 C T rs369525573 SSC4D Nonsynonymous SNV R532Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 20.8 28863 chr17 7637789 7637789 C T rs3744255 DNAH2 Synonymous SNV T247T 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 15.58 28864 chr19 7570978 7570978 T C rs685034 TEX45 Synonymous SNV P378P 0.694 0.716 0.68 269 815 275 0.69 200 277 105 70 96 0.07 28865 chr19 7584223 7584223 A G rs11555037 ZNF358 Nonsynonymous SNV N32S 0.366 0.362 0.405 140 430 139 0.359 119 83 24 26 29 0.006 28866 chr7 76023029 76023029 T C rs10261314 SSC4D Synonymous SNV G342G 0.476 0.563 0.483 208 559 216 0.533 142 130 66 32 54 0.087 28867 chr17 76421443 76421443 G A rs1134541 DNAH17 Synonymous SNV Y4375Y 0.128 0.112 0.15 55 150 43 0.141 44 10 4 5 5 Benign 7.29 28868 chr18 19154143 19154143 G A rs13381941 ESCO1 Nonsynonymous SNV T221M 0.38 0.357 0.422 152 446 137 0.39 124 93 24 24 27 0.029 28869 chr7 76054372 76054372 G A rs2286428 ZP3 Nonsynonymous SNV G31R 0.267 0.297 0.272 107 313 114 0.274 80 36 14 12 16 9.513 28870 chr19 7593571 7593571 A C rs61736600 MCOLN1 Synonymous SNV R322R 0.101 0.099 0.078 48 119 38 0.123 23 5 2 2 2 Benign 0.028 28871 chr19 7694393 7694393 G A rs4134809 XAB2 Synonymous SNV L7L 0.379 0.38 0.344 137 445 146 0.351 101 77 33 18 22 Benign 3.323 28872 chr17 80040887 80040887 A G rs150604140 FASN Synonymous SNV A1890A 0.009 0.013 0 6 10 5 0.015 0 0 0 0 0 Likely benign 1.601 28873 chr18 20716015 20716023 GGCGCCGGC - rs139352344 CABLES1 G99_A101del 0.277 0.232 0.078 120 325 89 0.308 23 48 14 6 20 28874 chr19 7698320 7698320 C T rs1862514 PCP2 Synonymous SNV T8T 0.369 0.372 0.337 137 433 143 0.351 99 77 32 18 23 Benign 9.631 28875 chr7 76871113 76871113 A G rs17230060 CCDC146 Synonymous SNV A115A 0.168 0.174 0.187 63 197 67 0.162 55 15 7 6 8 10.38 28876 chr17 80398183 80398183 C G HEXD Nonsynonymous SNV R251G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.249 28877 chr19 7711221 7711221 T C rs10001 STXBP2 Synonymous SNV D478D 0.369 0.365 0.337 141 433 140 0.362 99 76 31 18 26 Benign 0.278 28878 chr17 73969835 73969835 C T rs3744032 ACOX1 Nonsynonymous SNV G101S 0.062 0.047 0.078 14 73 18 0.036 23 3 0 1 0 19.31 28879 chr17 76423151 76423151 C T rs3209030 DNAH17 Synonymous SNV P4209P 0.129 0.115 0.146 54 151 44 0.138 43 10 4 4 5 Benign 13.15 28880 chr7 76916819 76916819 G A rs3763402 CCDC146 Synonymous SNV Q780Q 0.177 0.159 0.187 73 208 61 0.187 55 23 2 9 9 0.292 28881 chr19 7712277 7712277 A G rs6791 STXBP2 Nonsynonymous SNV I523V 0.53 0.573 0.493 217 622 220 0.556 145 164 66 39 60 Benign 0.001 28882 chr7 12406989 12406989 C G rs6460939 VWDE Nonsynonymous SNV K849N 0.442 0.469 0.357 178 519 180 0.456 105 131 42 24 47 22.5 28883 chr7 76922490 76922490 C T rs17151219 CCDC146 Synonymous SNV H879H 0.175 0.156 0.184 69 205 60 0.177 54 23 2 9 9 11.9 28884 chr18 21053586 21053586 G A rs199977739 RIOK3 Nonsynonymous SNV A321T 0.008 0 0 4 9 0 0.01 0 0 0 0 0 11.66 28885 chr19 7747293 7747293 T G rs6952 TRAPPC5 Nonsynonymous SNV S52A 0.38 0.393 0.408 133 446 151 0.341 120 79 36 20 25 16.89 28886 chr7 76950699 76950699 C T rs17151692 GSAP Nonsynonymous SNV V402I 0.152 0.161 0.122 63 179 62 0.162 36 11 6 2 4 13.27 28887 chr19 7747445 7747445 G A rs1053363 TRAPPC5 Synonymous SNV A102A 0.238 0.216 0.265 89 279 83 0.228 78 35 12 7 12 13.67 28888 chr19 7763248 7763248 G A rs2228137 FCER2 Nonsynonymous SNV R61W 0.19 0.172 0.153 77 223 66 0.197 45 22 10 2 11 22.9 28889 chr7 76984572 76984572 G A rs2037753 GSAP Synonymous SNV C217C 0.33 0.385 0.344 145 387 148 0.372 101 62 27 20 28 6.052 28890 chr17 80615788 80615788 G C rs34189304 RAB40B Nonsynonymous SNV P263R 0.01 0.021 0.014 3 12 8 0.008 4 2 0 0 0 22.9 28891 chr7 76990178 76990178 C G rs4727366 GSAP Synonymous SNV G115G 0.256 0.313 0.224 109 300 120 0.279 66 36 20 8 17 7.273 28892 chr19 7831628 7831628 G A rs2277998 CLEC4M Nonsynonymous SNV D155N 0.346 0.294 0.344 119 406 113 0.305 101 76 13 17 23 0.005 28893 chr7 76991935 76991935 C T rs1527263 GSAP Nonsynonymous SNV G90E 0.255 0.313 0.207 110 299 120 0.282 61 36 20 8 17 3.126 28894 chr18 12254956 12254956 G A rs34939372 CIDEA 0.134 0.141 0.109 70 157 54 0.179 32 24 6 4 10 5.616 28895 chr19 7913974 7913974 T C rs555609 EVI5L Synonymous SNV H165H 0.772 0.755 0.748 288 906 290 0.738 220 353 112 80 102 0.171 28896 chr17 8046664 8046664 C T rs112474322 PER1 Nonsynonymous SNV A998T 0.032 0.031 0.024 11 37 12 0.028 7 1 1 0 0 11.14 28897 chr7 77035392 77035392 T C rs6949654 GSAP Nonsynonymous SNV H47R 0.866 0.893 0.864 342 1017 343 0.877 254 447 156 116 153 0.014 28898 chr19 7916620 7916620 A G rs580790 EVI5L Synonymous SNV A317A 0.865 0.862 0.847 337 1016 331 0.864 249 446 140 106 143 7.405 28899 chr19 7928462 7928462 T C rs10410459 EVI5L Synonymous SNV Y753Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 28900 chr17 8046680 8046680 G A rs112185134 PER1 Synonymous SNV L992L 0.034 0.031 0.024 11 40 12 0.028 7 1 1 0 0 5.785 28901 chr19 7963914 7963914 A C rs524029 LRRC8E Synonymous SNV V40V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.022 28902 chr7 77365770 77365770 A G rs3764824 RSBN1L Synonymous SNV E210E 0.475 0.526 0.201 200 558 202 0.513 59 135 64 24 50 7.752 28903 chr17 8046737 8046737 C T rs112854368 PER1 Synonymous SNV L973L 0.034 0.031 0.024 11 40 12 0.028 7 1 1 0 0 12.66 28904 chr19 7964616 7964616 G C rs45603833 LRRC8E Synonymous SNV T274T 0.256 0.208 0.228 86 301 80 0.221 67 40 10 7 7 3.244 28905 chr17 74014619 74014619 G A rs140458042 EVPL Synonymous SNV V449V 0.017 0.008 0.01 2 20 3 0.005 3 2 0 0 0 12.08 28906 chr7 77423574 77423574 G A rs7953 TMEM60 Synonymous SNV F39F 0.476 0.516 0.52 193 559 198 0.495 153 128 61 44 46 7.523 28907 chr19 7986638 7986638 C G rs475002 SNAPC2 Nonsynonymous SNV L118V 0.514 0.544 0.49 215 603 209 0.551 144 154 58 35 55 22.2 28908 chr7 77552127 77552127 G A rs848486 PHTF2 Nonsynonymous SNV R350H 0.618 0.612 0.609 224 725 235 0.574 179 223 78 57 65 7.884 28909 chr19 7992976 7992976 T C rs11542187 TIMM44 Nonsynonymous SNV I372V 0.032 0.031 0.041 16 38 12 0.041 12 1 1 0 1 Benign 1.91 28910 chr17 80899281 80899281 G A rs9390 TBCD Synonymous SNV A1162A 0.534 0.49 0.514 234 627 188 0.6 151 182 49 37 72 8.069 28911 chr7 77569559 77569559 C T rs1064040 PHTF2 Synonymous SNV R449R 0.035 0.065 0.068 9 41 25 0.023 20 0 1 1 0 13.76 28912 chr19 8028544 8028544 A G rs14394 ELAVL1 Synonymous SNV G268G 0.308 0.341 0.299 96 362 131 0.246 88 45 22 13 9 0.214 28913 chr7 77756580 77756580 T C rs2074641 MAGI2 Synonymous SNV L1105L 0.812 0.826 0.769 327 953 317 0.838 226 391 130 97 138 Benign 7.814 28914 chr19 8121360 8121360 A G rs2032887 CCL25 Nonsynonymous SNV H101R 0.273 0.234 0.235 111 320 90 0.285 69 45 9 7 17 0.002 28915 chr7 77756724 77756724 C T rs7812015 MAGI2 Synonymous SNV S1057S 0.814 0.826 0.813 326 956 317 0.836 239 394 130 99 137 Benign 15.33 28916 chr17 8053344 8053344 G A rs35826160 PER1 Synonymous SNV R158R 0.035 0.029 0.024 11 41 11 0.028 7 1 1 0 0 7.633 28917 chr19 8122737 8122737 G A rs2303164 CCL25 Synonymous SNV S125S 0.648 0.685 0.66 250 761 263 0.641 194 236 88 62 79 8.609 28918 chr7 16566645 16566645 C G rs2301968 LRRC72 Nonsynonymous SNV T23S 0.124 0.151 0.129 56 145 58 0.144 38 5 3 1 4 0.004 28919 chr7 78119109 78119109 C T rs3735442 MAGI2 Synonymous SNV K338K 0.31 0.333 0.306 122 364 128 0.313 90 50 26 14 19 Benign 12.91 28920 chr7 80088041 80088041 G A rs2074674 GNAT3 Synonymous SNV D337D 0.26 0.25 0.272 95 305 96 0.244 80 30 12 9 7 11 28921 chr17 73274340 73274340 G A rs548801864 SLC25A19 Nonsynonymous SNV A179V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.046 28922 chr19 8122767 8122767 T C rs2303165 CCL25 Synonymous SNV S135S 0.917 0.904 0.908 348 1077 347 0.892 267 492 156 121 155 0.154 28923 chr19 8138054 8138054 C A rs7257948 FBN3 Nonsynonymous SNV E2610D 0.523 0.445 0.551 199 614 171 0.51 162 153 40 45 51 0.301 28924 chr7 80374342 80374342 A G rs1949971 SEMA3C Synonymous SNV Y726Y 0.989 0.99 0.956 385 1161 380 0.987 281 574 188 134 190 0.109 28925 chr17 74133974 74133974 C T rs894542 FOXJ1 Synonymous SNV T242T 0.11 0.109 0.085 24 129 42 0.062 25 11 4 3 0 12.68 28926 chr7 80374438 80374438 T C rs1949972 SEMA3C Synonymous SNV P694P 0.987 0.987 0.952 383 1159 379 0.982 280 572 187 133 188 2.491 28927 chr7 80378319 80378319 G C rs2272351 SEMA3C Synonymous SNV V597V 0.991 0.99 0.963 386 1163 380 0.99 283 576 188 136 191 8.459 28928 chr18 21891975 21891975 A G rs2337961 OSBPL1A Synonymous SNV S355S 0.212 0.234 0.204 82 249 90 0.21 60 25 13 10 9 1.797 28929 chr19 8145921 8145921 C T rs2303168 FBN3 Synonymous SNV P2473P 0.507 0.422 0.544 197 595 162 0.505 160 142 33 43 50 12.34 28930 chr19 8152725 8152725 A G rs12460643 FBN3 Synonymous SNV D2201D 0.733 0.76 0.711 285 860 292 0.731 209 315 113 73 105 0.072 28931 chr7 81359051 81359051 C T rs5745687 HGF Nonsynonymous SNV E304K 0.098 0.104 0.088 46 115 40 0.118 26 4 3 1 3 Benign/Likely benign 22.4 28932 chr7 17349626 17349626 T C rs17779352 AHR Synonymous SNV N44N 0.082 0.057 0.085 37 96 22 0.095 25 4 1 1 3 5.308 28933 chr17 73489820 73489820 G C rs747416776 TMEM94 Nonsynonymous SNV G754R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 28934 chr19 8159362 8159362 G T rs7245429 FBN3 Nonsynonymous SNV P1958H 0.335 0.339 0.364 132 393 130 0.338 107 61 24 17 18 24.9 28935 chr7 82435033 82435033 C T rs12668093 PCLO Synonymous SNV G4968G 0.11 0.117 0.129 47 129 45 0.121 38 9 2 3 1 18.95 28936 chr18 22056766 22056766 C T rs11665084 HRH4 Nonsynonymous SNV A138V 0.089 0.099 0.129 30 104 38 0.077 38 7 1 3 0 22.8 28937 chr19 8159409 8159409 G T rs7245552 FBN3 Synonymous SNV P1942P 0.58 0.583 0.643 218 681 224 0.559 189 192 67 62 67 11.08 28938 chr7 82453708 82453708 A C rs2522833 PCLO Nonsynonymous SNV S4814A 0.382 0.44 0.415 143 449 169 0.367 122 87 38 19 31 20.4 28939 chr17 76498909 76498909 A G rs7218324 DNAH17-AS1 0.022 0.034 0.007 8 26 13 0.021 2 1 1 0 0 2.635 28940 chr19 8160334 8160334 G A rs12608849 FBN3 Nonsynonymous SNV L1904F 0.236 0.224 0.245 89 277 86 0.228 72 33 14 8 8 7.732 28941 chr18 22056970 22056970 A G rs11662595 HRH4 Nonsynonymous SNV H118R 0.091 0.104 0.136 32 107 40 0.082 40 7 1 3 0 0.05 28942 chr7 82544239 82544239 C T rs770728158 PCLO Nonsynonymous SNV A4355T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 28943 chr19 8161450 8161450 C T rs3829817 FBN3 Nonsynonymous SNV R1806Q 0.248 0.255 0.269 90 291 98 0.231 79 32 14 9 12 17.66 28944 chr7 82581488 82581488 - TCA rs10630259 PCLO D2926_E2927insD 0.986 0.987 0.986 377 1158 379 0.967 290 571 187 143 182 28945 chr19 8176009 8176009 C T rs17160196 FBN3 Synonymous SNV A1381A 0.13 0.141 0.143 56 153 54 0.144 42 7 4 1 3 15.37 28946 chr7 82764425 82764425 C G rs2877 PCLO Nonsynonymous SNV S814T 0.664 0.68 0.646 255 780 261 0.654 190 256 91 65 78 0.124 28947 chr19 8176569 8176569 G A rs35306870 FBN3 Synonymous SNV C1349C 0.195 0.216 0.245 89 229 83 0.228 72 27 12 7 7 0.783 28948 chr17 80904844 80904844 C T rs7225887 B3GNTL1 Nonsynonymous SNV A163T 0.222 0.193 0.214 96 261 74 0.246 63 33 4 5 12 23.4 28949 chr19 8176919 8176919 C T rs4804264 FBN3 Synonymous SNV P1301P 0.467 0.492 0.527 176 548 189 0.451 155 121 46 43 40 9.466 28950 chr7 82784456 82784456 A G rs6972461 PCLO Nonsynonymous SNV S501P 0.175 0.185 0.228 101 206 71 0.259 67 40 14 14 18 0.001 28951 chr18 23873463 23873463 T C rs1677016 TAF4B Synonymous SNV N605N 0.595 0.609 0.388 224 698 234 0.574 114 234 75 41 71 8.024 28952 chr19 8176945 8176945 T C rs4804063 FBN3 Nonsynonymous SNV S1293G 0.137 0.148 0.16 53 161 57 0.136 47 17 5 6 4 0.022 28953 chr7 20683204 20683204 G T rs7349983 ABCB5 Synonymous SNV V209V 0.123 0.138 0.136 51 144 53 0.131 40 8 5 2 2 5.446 28954 chr7 20687181 20687181 C T rs2893006 ABCB5 Synonymous SNV S335S 0.204 0.234 0.218 75 239 90 0.192 64 25 7 6 6 12.62 28955 chr7 83029438 83029438 C T rs2722974 SEMA3E Synonymous SNV L364L 0.415 0.417 0.357 166 487 160 0.426 105 103 30 19 32 Benign 12.86 28956 chr19 8191184 8191184 C T rs35025963 FBN3 Nonsynonymous SNV D868N 0.202 0.232 0.241 80 237 89 0.205 71 29 11 9 5 14.53 28957 chr7 20687604 20687604 A G rs61732039 ABCB5 Nonsynonymous SNV D370G 0.124 0.138 0.112 51 145 53 0.131 33 8 5 2 2 23.5 28958 chr7 83037751 83037751 C A rs2722985 SEMA3E Synonymous SNV A141A 0.549 0.523 0.568 223 644 201 0.572 167 182 51 42 65 Benign 14.33 28959 chr19 8196444 8196444 C T rs4804271 FBN3 Nonsynonymous SNV D662N 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 1.874 28960 chr7 83590852 83590852 T C rs797821 SEMA3A Synonymous SNV T717T 0.618 0.578 0.565 225 726 222 0.577 166 220 63 49 66 Benign 0.013 28961 chr18 2544702 2544702 G A rs7226507 METTL4 Synonymous SNV Y377Y 0.06 0.065 0.031 23 71 25 0.059 9 2 1 0 0 8.134 28962 chr7 20691047 20691047 T C rs34603556 ABCB5 Star tloss M1? 0.196 0.216 0.211 73 230 83 0.187 62 23 5 6 4 0.001 28963 chr7 86800351 86800351 A G rs3747807 DMTF1 Synonymous SNV A3A 0.884 0.891 0.884 357 1038 342 0.915 260 462 153 115 163 11.52 28964 chr18 20577669 20577669 G A rs17852769 RBBP8 Synonymous SNV K705K 0.136 0.133 0.126 55 160 51 0.141 37 11 1 1 2 Likely benign 13 28965 chr19 8212263 8212263 G A rs11878432 FBN3 Synonymous SNV D34D 0.289 0.302 0.248 129 339 116 0.331 73 50 18 12 23 7.835 28966 chr7 20691219 20691219 G A rs61227829 ABCB5 Synonymous SNV A58A 0.124 0.135 0.136 51 145 52 0.131 40 7 5 2 2 15.6 28967 chr19 829568 829568 C T rs12460890 AZU1 Synonymous SNV P74P 0.244 0.258 0.248 129 286 99 0.331 73 33 14 4 20 3.617 28968 chr7 87079406 87079406 T A rs2109505 ABCB4 Synonymous SNV I237I 0.173 0.174 0.19 60 203 67 0.154 56 15 6 6 2 Benign 18.12 28969 chr19 830854 830854 T C rs595844 AZU1 Synonymous SNV F169F 0.526 0.49 0.551 217 617 188 0.556 162 161 44 46 60 0.004 28970 chr7 20698270 20698270 A G rs2301641 ABCB5 Nonsynonymous SNV K115E 0.327 0.32 0.347 107 384 123 0.274 102 64 15 15 14 6.191 28971 chr7 87092185 87092185 G A rs2302387 ABCB4 Synonymous SNV L59L 0.157 0.172 0.18 50 184 66 0.128 53 14 6 5 2 Benign 9.088 28972 chr19 8321937 8321937 C T rs1127912 CERS4 Synonymous SNV H239H 0.195 0.211 0.245 96 229 81 0.246 72 21 7 10 11 12.57 28973 chr18 2554807 2554807 T G rs34143130 METTL4 Nonsynonymous SNV E230D 0.061 0.065 0.037 23 72 25 0.059 11 2 1 0 0 7.48 28974 chr7 87138645 87138645 A G rs1045642 ABCB1 Synonymous SNV I1145I 0.513 0.536 0.5 174 602 206 0.446 147 167 55 37 38 drug response 2.792 28975 chr19 8326866 8326866 C T rs17160348 CERS4 Nonsynonymous SNV A353V 0.16 0.169 0.194 78 188 65 0.2 57 16 6 6 7 15.06 28976 chr7 87138672 87138672 G A rs201106061 ABCB1 Synonymous SNV N1136N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.84 28977 chr17 7680159 7680159 G A rs62059684 DNAH2 Synonymous SNV A1670A 0.347 0.38 0.374 146 407 146 0.374 110 69 27 20 27 Benign 13.42 28978 chr18 2554836 2554836 A G rs16943442 METTL4 Synonymous SNV L221L 0.061 0.065 0.037 23 72 25 0.059 11 2 1 0 0 0.046 28979 chr7 87160618 87160618 A C rs2032582 ABCB1 Nonsynonymous SNV S893A 0.531 0.555 0.493 186 623 213 0.477 145 172 59 39 44 drug response 9.437 28980 chr19 8326904 8326904 G A rs36259 CERS4 Nonsynonymous SNV A366T 0.775 0.776 0.765 293 910 298 0.751 225 361 117 87 110 2.248 28981 chr17 74622774 74622774 T C rs35948039 ST6GALNAC1 Nonsynonymous SNV I424V 0.061 0.063 0.099 23 72 24 0.059 29 2 1 1 0 0.001 28982 chr7 20768013 20768013 G A rs10254317 ABCB5 Synonymous SNV A489A 0.388 0.419 0.401 154 456 161 0.395 118 91 39 20 33 15.72 28983 chr18 2555002 2555002 C T rs12607882 METTL4 Synonymous SNV L165L 0.06 0.065 0.037 22 71 25 0.056 11 2 1 0 0 0.795 28984 chr17 80543901 80543901 C T rs61737960 FOXK2 Synonymous SNV V467V 0.042 0.036 0.01 16 49 14 0.041 3 3 0 0 0 18.01 28985 chr19 8326944 8326944 G A rs17160349 CERS4 Nonsynonymous SNV R379Q 0.151 0.141 0.194 76 177 54 0.195 57 15 6 6 7 25.9 28986 chr7 87179601 87179601 A G rs1128503 ABCB1 Synonymous SNV G412G 0.537 0.555 0.514 182 631 213 0.467 151 176 56 39 41 Benign 0.014 28987 chr7 20768077 20768077 A T rs117497357 ABCB5 Nonsynonymous SNV I511L 0.038 0.029 0.027 15 45 11 0.038 8 0 0 0 1 3.717 28988 chr18 2555005 2555005 C T rs61730027 METTL4 Synonymous SNV Q164Q 0.06 0.065 0.037 22 71 25 0.056 11 2 1 0 0 0.886 28989 chr7 87229501 87229501 T C rs2214102 ABCB1 Synonymous SNV G70G 0.971 0.958 0.983 377 1140 368 0.967 289 554 176 142 182 drug response 8.264 28990 chr19 8376431 8376431 G A rs561 NDUFA7 Synonymous SNV P100P 0.193 0.161 0.221 83 226 62 0.213 65 25 4 4 9 12.56 28991 chr18 2555008 2555008 T G rs12606220 METTL4 Nonsynonymous SNV L163F 0.06 0.065 0.037 21 71 25 0.054 11 2 1 0 0 4.176 28992 chr17 76851917 76851917 G A TIMP2 Synonymous SNV Y165Y 0.003 0 0 0 3 0 0 0 0 0 0 0 15.9 28993 chr7 87232299 87232299 T A rs956728895 ABCB1 Nonsynonymous SNV S2C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.149 28994 chr19 8398950 8398961 TCGCTGTCGCCA - rs111751275 KANK3 D489_S492del 0.318 0.307 0.306 142 373 118 0.364 90 60 16 12 31 28995 chr7 87564497 87564497 C G rs2279542 ADAM22 Nonsynonymous SNV P80R 0.504 0.495 0.49 162 592 190 0.415 144 150 45 38 36 5.395 28996 chr19 8399628 8399628 A G rs710949 KANK3 Synonymous SNV S361S 0.58 0.56 0.432 236 681 215 0.605 127 229 79 49 80 0.952 28997 chr17 73826120 73826120 C T rs35628234 UNC13D Synonymous SNV E981E 0.05 0.044 0.041 29 59 17 0.074 12 2 0 0 0 Benign/Likely benign 15.17 28998 chr19 8399635 8399635 C T rs890853 KANK3 Nonsynonymous SNV R359H 0.236 0.195 0.16 104 277 75 0.267 47 49 12 7 15 17.29 28999 chr7 87913221 87913221 C T rs34741656 STEAP4 Nonsynonymous SNV A122T 0.216 0.195 0.245 98 254 75 0.251 72 31 7 7 11 27.5 29000 chr17 77040128 77040128 T C rs4789922 C1QTNF1 Synonymous SNV R26R 0.129 0.141 0.126 55 151 54 0.141 37 11 5 2 4 0.04 29001 chr19 8468337 8468337 C T rs2230876 RAB11B Synonymous SNV R184R 0.342 0.326 0.289 126 402 125 0.323 85 70 24 12 20 10.91 29002 chr19 8486884 8486884 G A rs1133893 MARCHF2 Nonsynonymous SNV A54T 0.321 0.31 0.354 135 377 119 0.346 104 63 22 19 21 22.6 29003 chr17 80828203 80828203 C T rs36018199 TBCD Synonymous SNV F474F 0.01 0.018 0.014 1 12 7 0.003 4 0 0 0 0 19.35 29004 chr7 87913361 87913361 C T rs1981529 STEAP4 Nonsynonymous SNV G75D 0.727 0.672 0.752 286 853 258 0.733 221 319 88 82 105 0.64 29005 chr17 77042718 77042718 C T rs11077409 C1QTNF1 Synonymous SNV P79P 0.126 0.143 0.139 57 148 55 0.146 41 10 7 2 4 10.55 29006 chr19 8551094 8551094 T C rs2230647 HNRNPM Synonymous SNV P459P 0.959 0.969 0.929 380 1126 372 0.974 273 540 180 128 185 0.168 29007 chr17 77071040 77071040 C A rs56107536 ENGASE Nonsynonymous SNV A5E 0.072 0.065 0.017 26 85 25 0.067 5 7 5 1 3 19.96 29008 chr7 88424115 88424115 C G rs2373396 TEX47 Nonsynonymous SNV D48H 0.183 0.172 0.194 53 215 66 0.136 57 21 2 2 1 0.002 29009 chr19 8553630 8553630 C T rs6992 HNRNPM Synonymous SNV G560G 0.946 0.945 0.918 376 1111 363 0.964 270 527 172 124 181 13.77 29010 chr19 855966 855966 C A rs17216649 ELANE Synonymous SNV S202S 0.119 0.115 0.146 71 140 44 0.182 43 11 2 1 8 Benign 11.96 29011 chr17 77073566 77073566 G A rs3744181 ENGASE Synonymous SNV P67P 0.108 0.12 0.126 44 127 46 0.113 37 7 5 2 4 7.888 29012 chr7 88956699 88956699 A G rs38971 ZNF804B Synonymous SNV V97V 0.09 0.094 0.15 44 106 36 0.113 44 8 1 3 4 9.392 29013 chr19 8563456 8563456 C G rs2910435 PRAM1 Synonymous SNV A412A 0.996 0.997 0.993 382 1169 383 0.979 292 582 191 145 187 5.751 29014 chr17 77075667 77075667 T C rs3744183 ENGASE Synonymous SNV I171I 0.152 0.154 0.211 65 179 59 0.167 62 20 7 10 9 1.437 29015 chr7 88964000 88964000 C T rs801839 ZNF804B Synonymous SNV F568F 0.295 0.297 0.299 128 346 114 0.328 88 53 19 17 14 0.143 29016 chr17 8791967 8791967 A T PIK3R5 Nonsynonymous SNV F379L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.57 29017 chr19 8645786 8645786 A C rs7252299 ADAMTS10 Nonsynonymous SNV H588Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 6.241 29018 chr17 77075670 77075670 C T rs3744184 ENGASE Synonymous SNV P172P 0.152 0.154 0.211 65 179 59 0.167 62 20 7 10 9 11.75 29019 chr7 88964196 88964196 T A rs801840 ZNF804B Nonsynonymous SNV F634I 0.295 0.299 0.299 128 346 115 0.328 88 53 20 17 14 6.642 29020 chr17 77075673 77075673 A G rs3744185 ENGASE Synonymous SNV P173P 0.152 0.154 0.211 65 179 59 0.167 62 20 7 10 9 0.021 29021 chr19 8651746 8651746 G A rs148379435 ADAMTS10 Synonymous SNV S218S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 29022 chr19 8656994 8656994 G T rs11882422 ADAMTS10 Nonsynonymous SNV P18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.476 29023 chr7 88965648 88965648 T G rs142565701 ZNF804B Nonsynonymous SNV Y1118D 0.012 0.021 0.017 5 14 8 0.013 5 0 0 0 0 19.4 29024 chr18 28604374 28604374 T C rs35630063 DSC3 Nonsynonymous SNV N239S 0.04 0.029 0.017 12 47 11 0.031 5 2 0 0 1 24.6 29025 chr19 8669931 8669931 G C rs7255721 ADAMTS10 Nonsynonymous SNV T134S 0.721 0.747 0.704 293 846 287 0.751 207 312 105 73 112 Benign 6.688 29026 chr17 73895695 73895695 G C rs368094656 MRPL38 Synonymous SNV P257P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 6.452 29027 chr17 8296383 8296383 C T rs12601362 RNF222 Nonsynonymous SNV A133T 0.183 0.18 0.139 60 215 69 0.154 41 23 7 3 5 2.401 29028 chr17 81043175 81043175 G T rs72854240 METRNL Nonsynonymous SNV A178S 0.027 0.034 0.037 19 32 13 0.049 11 0 1 0 0 0.331 29029 chr17 75210054 75210054 C T rs75076568 SEC14L1 Synonymous SNV A665A 0.02 0.018 0.017 3 24 7 0.008 5 0 0 0 0 19.71 29030 chr7 89854446 89854446 T G rs194520 STEAP2 Nonsynonymous SNV F17C 0.524 0.534 0.439 194 615 205 0.497 129 154 57 24 52 23.5 29031 chr19 868115 868115 C T rs13090 MED16 Nonsynonymous SNV E874K 0.267 0.281 0.153 78 314 108 0.2 45 70 19 9 11 10.08 29032 chr7 21765497 21765497 G A rs11768670 DNAH11 Synonymous SNV S2445S 0.256 0.279 0.245 104 301 107 0.267 72 40 18 9 14 Benign/Likely benign 14.66 29033 chr18 23854692 23854692 C T rs17224558 TAF4B Synonymous SNV T221T 0.137 0.122 0.109 50 161 47 0.128 32 8 1 4 2 10.85 29034 chr18 28649042 28649042 T C rs1893963 DSC2 Nonsynonymous SNV I776V 0.068 0.068 0.061 27 80 26 0.069 18 3 1 1 3 Benign 0.002 29035 chr19 871135 871135 A G rs1683569 MED16 Synonymous SNV V739V 0.333 0.307 0.231 105 391 118 0.269 68 68 18 10 12 10.28 29036 chr7 89856608 89856608 C T rs110360 STEAP2 Synonymous SNV L272L 0.529 0.536 0.459 194 621 206 0.497 135 156 58 28 52 13.29 29037 chr7 89861832 89861832 G A rs194524 STEAP2 Nonsynonymous SNV R456Q 0.524 0.534 0.439 195 615 205 0.5 129 154 57 24 53 22.8 29038 chr17 73919521 73919521 C T rs7219918 FBF1 Synonymous SNV V390V 0.049 0.047 0.048 27 57 18 0.069 14 1 0 0 0 8.786 29039 chr19 871222 871222 G A rs8100258 MED16 Synonymous SNV D710D 0.204 0.188 0.286 101 239 72 0.259 84 27 6 10 10 6.773 29040 chr18 23866349 23866349 G A rs3744961 TAF4B Synonymous SNV G492G 0.14 0.125 0.112 48 164 48 0.123 33 8 1 4 1 6.665 29041 chr17 7736242 7736242 C G rs116930996 DNAH2 Nonsynonymous SNV P4325R 0.047 0.044 0.051 26 55 17 0.067 15 0 1 0 2 Likely benign 27.4 29042 chr18 28734749 28734749 A G rs2249810 DSC1 Synonymous SNV Y205Y 0.566 0.602 0.531 225 664 231 0.577 156 187 65 40 61 0.01 29043 chr18 28898294 28898294 A G rs1426310 DSG1 Nonsynonymous SNV M11V 0.498 0.479 0.469 199 585 184 0.51 138 139 39 32 45 Benign 0.609 29044 chr19 872089 872089 A G rs72984031 MED16 Synonymous SNV F645F 0.219 0.206 0.306 108 257 79 0.277 90 31 7 12 11 0.009 29045 chr7 89861890 89861890 G T rs194525 STEAP2 Nonsynonymous SNV M475I 0.875 0.911 0.864 329 1027 350 0.844 254 449 159 108 140 9.494 29046 chr19 880066 880066 G A rs34799086 MED16 Synonymous SNV S408S 0.146 0.146 0.153 61 171 56 0.156 45 22 4 4 7 10.25 29047 chr17 9846521 9846521 G C rs17339499 GAS7 Synonymous SNV T76T 0.181 0.185 0.204 73 213 71 0.187 60 15 5 10 9 10.44 29048 chr18 24127313 24127313 C T rs8083482 KCTD1 Synonymous SNV S396S 0.061 0.068 0.027 23 72 26 0.059 8 1 4 0 1 11.64 29049 chr19 8808373 8808373 G T rs4804079 ACTL9 Nonsynonymous SNV H227N 0.551 0.531 0.612 216 647 204 0.554 180 183 52 53 59 22.8 29050 chr18 28913599 28913599 C T rs12967407 DSG1 Synonymous SNV G244G 0.496 0.474 0.466 198 582 182 0.508 137 137 39 32 45 Benign 13.15 29051 chr18 24128223 24128225 TCC - rs143299522 KCTD1 E96del 0.02 0.016 0 12 23 6 0.031 0 0 1 0 0 29052 chr7 89906609 89906609 C T rs3761805 CFAP69 Synonymous SNV N372N 0.209 0.258 0.235 86 245 99 0.221 69 24 9 13 10 14.28 29053 chr18 28934781 28934781 C T rs149729348 DSG1 Synonymous SNV G874G 0.009 0 0.01 6 11 0 0.015 3 0 0 0 0 Benign 8.906 29054 chr18 24442392 24442392 C A rs35248760 AQP4 Synonymous SNV P45P 0.144 0.12 0.109 35 169 46 0.09 32 7 3 1 0 17.35 29055 chr19 8808900 8808900 A G rs10410943 ACTL9 Nonsynonymous SNV V51A 0.725 0.729 0.741 285 851 280 0.731 218 312 102 81 105 0.003 29056 chr7 89912301 89912301 G A rs1029365 CFAP69 Nonsynonymous SNV V490M 0.8 0.839 0.782 298 939 322 0.764 230 374 136 87 115 13.72 29057 chr17 76121004 76121004 G A rs9895373 TMC6 Nonsynonymous SNV S200F 0.017 0.013 0.007 12 20 5 0.031 2 0 0 0 0 0.068 29058 chr17 77914797 77914797 G A rs759693304 TBC1D16 Nonsynonymous SNV A347V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 29059 chr19 8808942 8808942 A G rs2340550 ACTL9 Nonsynonymous SNV F37S 0.726 0.727 0.741 285 852 279 0.731 218 313 101 81 105 0.028 29060 chr7 89938588 89938588 C G rs7803620 CFAP69 Nonsynonymous SNV S788R 0.853 0.906 0.782 325 1002 348 0.833 230 440 158 100 140 0.763 29061 chr19 8841558 8841558 T C rs28324 OR2Z1 Synonymous SNV H56H 0.572 0.589 0.639 215 671 226 0.551 188 190 65 55 55 0.005 29062 chr7 89938680 89938680 C T rs1134956 CFAP69 Nonsynonymous SNV T819M 0.581 0.57 0.401 209 682 219 0.536 118 192 62 35 58 34 29063 chr19 885818 885818 A G rs1060442 MED16 Synonymous SNV F277F 0.615 0.628 0.67 231 722 241 0.592 197 225 75 63 77 7.206 29064 chr17 74003875 74003875 G A rs559736644 EVPL Nonsynonymous SNV P1826L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 29065 chr19 890165 890165 G A rs6678 MED16 Synonymous SNV A83A 0.294 0.284 0.207 90 345 109 0.231 61 52 17 9 11 9.95 29066 chr19 8953801 8953801 T C rs2969292 MBD3L1 Synonymous SNV V149V 0.961 0.958 0.952 375 1128 368 0.962 280 543 176 133 181 0.209 29067 chr7 89969831 89969831 A G rs42637 LOC101927446 0.648 0.646 0.582 241 761 248 0.618 171 236 76 51 75 0.471 29068 chr19 8953922 8953922 C T rs2972588 MBD3L1 Nonsynonymous SNV R190C 0.96 0.956 0.942 375 1127 367 0.962 277 542 176 130 181 7.609 29069 chr7 89982132 89982132 T C rs6972561 GTPBP10 Synonymous SNV Y12Y 0.216 0.268 0.255 92 254 103 0.236 75 25 11 11 13 8.891 29070 chr18 10704619 10704619 C G rs4796901 PIEZO2 Nonsynonymous SNV E1898Q 0.184 0.148 0.218 65 216 57 0.167 64 20 3 9 6 Benign 25.1 29071 chr7 89983808 89983808 T G rs42663 GTPBP10 Nonsynonymous SNV C88W 0.78 0.815 0.796 290 916 313 0.744 234 391 138 92 119 23.6 29072 chr7 23728916 23728916 G A rs34518648 FAM221A Nonsynonymous SNV A32T 0.072 0.091 0.051 45 84 35 0.115 15 4 3 0 0 4.497 29073 chr17 76183022 76183022 C T rs756240391 TK1 Synonymous SNV R18R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 20.9 29074 chr19 8961981 8961981 C G rs1035442 MUC16 Nonsynonymous SNV V14466L 0.96 0.958 0.952 375 1127 368 0.962 280 542 176 133 181 1.593 29075 chr17 78064096 78064096 A G rs374493149 CCDC40 Synonymous SNV A997A 0.02 0.01 0.014 8 23 4 0.021 4 2 1 0 2 2.502 29076 chr17 9705939 9705939 G C rs74901801 GSG1L2 Nonsynonymous SNV L216V 0.013 0.023 0.01 5 15 9 0.013 3 0 0 0 0 23.2 29077 chr18 2656248 2656248 G C rs2430853 SMCHD1 Synonymous SNV A58A 0.572 0.552 0.616 220 671 212 0.564 181 186 64 58 60 Benign 8.677 29078 chr7 89984409 89984409 A G rs42664 GTPBP10 Nonsynonymous SNV N110S 0.55 0.557 0.51 206 646 214 0.528 150 190 60 38 59 18.76 29079 chr7 23728931 23728931 T C rs35495590 FAM221A Nonsynonymous SNV C37R 0.072 0.094 0.051 45 85 36 0.115 15 4 3 0 0 0.11 29080 chr19 8999421 8999421 G C rs75266616 MUC16 Nonsynonymous SNV T13585S 0.001 0.003 0.041 0 1 1 0 12 0 0 0 0 22.5 29081 chr18 29104714 29104714 A G rs2230234 DSG2 Nonsynonymous SNV I293V 0.124 0.117 0.065 50 146 45 0.128 19 6 1 1 3 Benign 23.6 29082 chr19 8999445 8999445 C T rs112439001 MUC16 Nonsynonymous SNV S13577N 0.006 0.013 0.153 0 7 5 0 45 0 0 0 0 6.799 29083 chr7 91503228 91503228 C T rs10266424 MTERF1 Nonsynonymous SNV A274T 0.453 0.435 0.439 147 532 167 0.377 129 130 41 32 31 0.005 29084 chr17 9739701 9739701 C T rs76930951 GLP2R Synonymous SNV N97N 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 Benign 7.411 29085 chr7 23737891 23737891 A G rs35928055 FAM221A Nonsynonymous SNV S182G 0.077 0.094 0.058 45 90 36 0.115 17 4 3 1 0 9.226 29086 chr18 29432624 29432624 T C rs3737374 TRAPPC8 Nonsynonymous SNV T1146A 0.353 0.313 0.255 127 415 120 0.326 75 71 21 10 14 11.2 29087 chr19 8999453 8999453 C T rs11085765 MUC16 Synonymous SNV L13574L 0.449 0.458 0.442 174 527 176 0.446 130 0 0 0 0 10.77 29088 chr19 8999462 8999462 C T rs764880286 MUC16 Synonymous SNV L13571L 0.003 0.013 0.15 0 4 5 0 44 0 0 0 0 10.37 29089 chr7 91632306 91632306 C T rs1989779 AKAP9 Synonymous SNV T1025T 0.859 0.844 0.874 336 1009 324 0.862 257 434 138 113 144 Benign/Likely benign 6.908 29090 chr19 8999468 8999468 C G rs1041137567 MUC16 Nonsynonymous SNV W13569C 0 0.01 0.139 0 0 4 0 41 0 0 0 0 23.8 29091 chr7 91714911 91714911 C T rs1063242 AKAP9 Nonsynonymous SNV P2979S 0.989 0.992 0.983 386 1161 381 0.99 289 574 189 142 191 Benign/Likely benign 1.518 29092 chr19 8999474 8999474 T C rs199946350 MUC16 Synonymous SNV L13567L 0.002 0.018 0.139 1 2 7 0.003 41 0 0 0 0 0.015 29093 chr18 29788107 29788107 G A rs4799640 MEP1B Synonymous SNV S264S 0.208 0.25 0.228 103 244 96 0.264 67 23 13 7 7 14.82 29094 chr7 91729054 91729054 G A rs56198613 AKAP9 Synonymous SNV L3589L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.04 29095 chr7 23811795 23811795 T G rs10263079 STK31 Nonsynonymous SNV N598K 0.214 0.185 0.204 89 251 71 0.228 60 31 7 7 11 24.9 29096 chr19 8999492 8999492 T C rs775092801 MUC16 Synonymous SNV G13561G 0.001 0.003 0.082 0 1 1 0 24 0 0 0 0 0.04 29097 chr7 91794308 91794308 G A rs73228571 LRRD1 Nonsynonymous SNV S70F 0.034 0.044 0.02 4 40 17 0.01 6 1 0 0 0 13.1 29098 chr19 8999498 8999498 G T rs760351137 MUC16 Nonsynonymous SNV S13559R 0 0 0.044 0 0 0 0 13 0 0 0 0 13.02 29099 chr7 23811800 23811800 G T rs10247878 STK31 Nonsynonymous SNV S600I 0.162 0.125 0.153 62 190 48 0.159 45 19 3 2 4 17.84 29100 chr19 8999514 8999514 C T rs548751371 MUC16 Nonsynonymous SNV R13554H 0.005 0.01 0.041 1 6 4 0.003 12 0 0 0 0 17.77 29101 chr18 28586964 28586964 A G rs1313586 DSC3 Synonymous SNV P599P 0.33 0.302 0.364 125 388 116 0.321 107 56 20 15 21 0.037 29102 chr7 91842554 91842554 T C rs11542682 KRIT1 Synonymous SNV V612V 0.1 0.117 0.102 45 117 45 0.115 30 8 1 1 3 Benign 3.916 29103 chr7 92027537 92027537 C G rs1861635 ANKIB1 Synonymous SNV S848S 0.091 0.115 0.105 44 107 44 0.113 31 6 1 1 3 10.51 29104 chr19 9000170 9000170 A G MUC16 Synonymous SNV S13529S 0.197 0.198 0.279 82 231 76 0.21 82 0 0 0 0 5.471 29105 chr18 29848436 29848436 G A rs3859366 GAREM1 Synonymous SNV L677L 0.038 0.036 0.034 11 45 14 0.028 10 0 0 0 1 0.03 29106 chr7 92028039 92028039 C A rs38794 ANKIB1 Nonsynonymous SNV L1016M 0.521 0.508 0.493 166 612 195 0.426 145 168 50 36 35 8.858 29107 chr19 9000185 9000185 A G MUC16 Synonymous SNV V13524V 0.218 0.221 0.316 90 256 85 0.231 93 0 0 0 0 6.129 29108 chr18 29867091 29867091 G A rs16962974 GAREM1 Nonsynonymous SNV A490V 0.035 0.029 0.024 9 41 11 0.023 7 0 0 0 1 12.52 29109 chr19 9000187 9000187 C T rs994308141 MUC16 Nonsynonymous SNV V13524I 0.221 0.219 0.323 91 260 84 0.233 95 0 0 0 0 16.25 29110 chr7 24846472 24846472 C T rs373541770 OSBPL3 Synonymous SNV A722A 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 19.01 29111 chr18 28722039 28722039 G A rs2577075 DSC1 Synonymous SNV L395L 0.224 0.234 0.259 77 263 90 0.197 76 33 8 9 6 4.97 29112 chr7 92098628 92098628 C A rs200174854 ERVW-1 Synonymous SNV G356G 0.051 0.039 0.003 8 60 15 0.021 1 0 0 0 0 14.32 29113 chr19 9000194 9000194 G A MUC16 Synonymous SNV N13521N 0.228 0.216 0.327 91 268 83 0.233 96 0 0 0 0 6.042 29114 chr18 29867504 29867504 T C rs16962977 GAREM1 Synonymous SNV E352E 0.035 0.029 0.024 9 41 11 0.023 7 0 0 0 1 7.876 29115 chr17 8926344 8926344 C T NTN1 Synonymous SNV I218I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.14 29116 chr18 28722103 28722103 T C rs2577074 DSC1 Synonymous SNV L373L 0.224 0.234 0.259 77 263 90 0.197 76 33 8 9 6 0.033 29117 chr7 92098680 92098680 C T rs375743758 ERVW-1 Nonsynonymous SNV G339D 0.11 0.094 0.037 35 129 36 0.09 11 0 0 0 0 18.56 29118 chr19 9000205 9000205 C A MUC16 Nonsynonymous SNV V13518L 0.201 0.188 0.272 78 236 72 0.2 80 0 0 0 0 0.64 29119 chr18 30260162 30260162 A G rs778129824 KLHL14 Synonymous SNV L520L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 7.001 29120 chr7 25182405 25182405 G T rs11984293 C7orf31 Nonsynonymous SNV P238Q 0.163 0.143 0.167 53 191 55 0.136 49 16 1 1 2 23 29121 chr19 9000206 9000206 A G MUC16 Synonymous SNV P13517P 0.193 0.188 0.272 77 227 72 0.197 80 0 0 0 0 0.029 29122 chr17 78178916 78178916 C T rs61757652 CARD14 Synonymous SNV P827P 0.078 0.091 0.071 18 91 35 0.046 21 3 1 0 1 13.51 29123 chr7 92098682 92098682 G A rs367830344 ERVW-1 Synonymous SNV G338G 0.107 0.089 0.041 35 126 34 0.09 12 0 0 0 0 7.161 29124 chr18 28737407 28737407 G A rs35338395 DSC1 Nonsynonymous SNV S93F 0.064 0.06 0.054 32 75 23 0.082 16 2 1 2 2 20.7 29125 chr19 9001833 9001833 A G rs12976122 MUC16 Nonsynonymous SNV M13472T 0.697 0.688 0.656 264 818 264 0.677 193 291 88 62 90 0.058 29126 chr7 92098698 92098698 A C rs758149501 ERVW-1 Nonsynonymous SNV L333R 0.072 0.065 0.024 16 85 25 0.041 7 0 0 0 0 23 29127 chr19 9001835 9001835 G A rs12985778 MUC16 Synonymous SNV P13471P 0.697 0.688 0.656 264 818 264 0.677 193 291 88 62 90 2.611 29128 chr7 92098699 92098699 G A rs766380965 ERVW-1 Synonymous SNV L333L 0.072 0.065 0.02 15 84 25 0.038 6 0 0 0 0 2.293 29129 chr18 30846895 30846895 A T rs9965081 CCDC178 Nonsynonymous SNV V465E 0.916 0.909 0.718 348 1075 349 0.892 211 491 157 100 155 0.023 29130 chr18 10855487 10855487 G A rs760632558 PIEZO2 Nonsynonymous SNV R261W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.5 29131 chr7 92098701 92098701 G C rs756207513 ERVW-1 Nonsynonymous SNV A332G 0.068 0.063 0.02 12 80 24 0.031 6 0 0 0 0 2.896 29132 chr17 78186011 78186011 A G rs570170198 SGSH Nonsynonymous SNV F270L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 29 29133 chr19 9002504 9002504 T C rs78327556 MUC16 Nonsynonymous SNV N13438D 0.288 0.292 0.452 94 338 112 0.241 133 0 0 0 0 19.73 29134 chr7 92098864 92098864 G A rs202086929 ERVW-1 Nonsynonymous SNV R278C 0.118 0.125 0.109 43 138 48 0.11 32 0 0 0 0 18.57 29135 chr18 3126811 3126811 A G rs1071600 MYOM1 Nonsynonymous SNV I864T 0.187 0.188 0.17 73 220 72 0.187 50 14 6 4 2 Benign 3.381 29136 chr19 9002519 9002519 G C rs150783178 MUC16 Nonsynonymous SNV H13433D 0.261 0.25 0.435 85 307 96 0.218 128 0 0 0 0 0.023 29137 chr18 2891478 2891478 T C rs3810067 EMILIN2 Synonymous SNV N451N 0.032 0.029 0.014 8 37 11 0.021 4 4 0 0 2 0.004 29138 chr7 92098868 92098868 G C rs200254976 ERVW-1 Synonymous SNV A276A 0.124 0.125 0.112 45 146 48 0.115 33 0 0 0 0 0.758 29139 chr18 12308793 12308793 G C rs11267036 TUBB6 Synonymous SNV S55S 0.18 0.182 0.194 62 211 70 0.159 57 19 4 6 5 13.08 29140 chr19 9002587 9002587 C T rs201053591 MUC16 Nonsynonymous SNV R13410Q 0.07 0.057 0.296 7 82 22 0.018 87 0 0 0 0 8.805 29141 chr7 92098910 92098910 G A rs765215937 ERVW-1 Synonymous SNV V262V 0.192 0.159 0.167 62 225 61 0.159 49 0 0 0 0 5.843 29142 chr7 92098917 92098917 T C rs758587028 ERVW-1 Nonsynonymous SNV Q260R 0.193 0.18 0.17 66 227 69 0.169 50 0 0 0 0 0.002 29143 chr19 9002597 9002597 C T rs758360332 MUC16 Nonsynonymous SNV D13407N 0.072 0.057 0.241 10 84 22 0.026 71 0 0 0 0 12.6 29144 chr7 92098918 92098918 G A rs377372983 ERVW-1 Stop gain Q260X 0.196 0.182 0.173 69 230 70 0.177 51 0 0 0 0 30 29145 chr7 27141919 27141919 G A rs374904865 HOXA2 Synonymous SNV H67H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 3.99 29146 chr19 9003618 9003618 C T rs11085776 MUC16 Nonsynonymous SNV R13341H 0.698 0.69 0.66 265 819 265 0.679 194 291 89 63 90 0.291 29147 chr18 3188976 3188976 A G rs1962519 MYOM1 Nonsynonymous SNV S181P 0.317 0.281 0.323 130 372 108 0.333 95 60 15 18 20 Benign 16.82 29148 chr7 92098965 92098965 G A rs201026415 ERVW-1 Nonsynonymous SNV T244I 0.095 0.081 0.058 22 111 31 0.056 17 0 0 0 0 0.002 29149 chr19 9005674 9005674 G A rs4804091 MUC16 Synonymous SNV D13244D 0.336 0.352 0.282 126 394 135 0.323 83 64 25 12 17 1.555 29150 chr7 92099045 92099045 G A rs755278919 ERVW-1 Synonymous SNV S217S 0.075 0.07 0 15 88 27 0.038 0 0 0 0 0 12.42 29151 chr18 3215030 3215030 C A rs9964300 MYOM1 Synonymous SNV A64A 0.046 0.055 0.031 15 54 21 0.038 9 3 2 0 0 Benign 15.22 29152 chr19 9005719 9005719 A G rs4804375 MUC16 Synonymous SNV D13229D 0.703 0.701 0.663 268 825 269 0.687 195 295 91 65 91 0.239 29153 chr7 92099047 92099047 A G rs767761673 ERVW-1 Nonsynonymous SNV S217P 0.076 0.07 0 15 89 27 0.038 0 0 0 0 0 7.609 29154 chr19 9009627 9009627 G A rs796508010 MUC16 Synonymous SNV S13033S 0.264 0.273 0.306 103 310 105 0.264 90 0 0 0 0 6.541 29155 chr18 32826088 32826088 A G rs2278463 ZNF397 Synonymous SNV R473R 0.474 0.417 0.442 178 556 160 0.456 130 140 32 29 40 2.316 29156 chr7 92131289 92131289 G T rs10278857 PEX1 Synonymous SNV G720G 0.932 0.927 0.915 370 1094 356 0.949 269 509 166 122 175 Benign 12.72 29157 chr19 9009630 9009630 G T rs796641172 MUC16 Synonymous SNV G13032G 0.256 0.268 0.306 101 301 103 0.259 90 0 0 0 0 2.646 29158 chr19 9009637 9009637 T C rs766753564 MUC16 Nonsynonymous SNV H13030R 0.228 0.232 0.276 88 268 89 0.226 81 0 0 0 0 0.001 29159 chr7 92158154 92158154 G A rs117787377 RBM48 Synonymous SNV G9G 0.022 0.031 0.014 9 26 12 0.023 4 0 0 0 0 6.556 29160 chr7 94043239 94043239 C G rs42524 COL1A2 Nonsynonymous SNV P549A 0.676 0.685 0.714 274 794 263 0.703 210 273 90 75 99 Benign 11.45 29161 chr19 9009640 9009640 C T rs118154006 MUC16 Nonsynonymous SNV R13029H 0.233 0.214 0.265 90 274 82 0.231 78 0 0 0 0 9.344 29162 chr19 9009652 9009652 C T rs796671806 MUC16 Nonsynonymous SNV G13025E 0.149 0.148 0.173 70 175 57 0.179 51 0 0 0 0 0.001 29163 chr7 29132279 29132279 A G rs117744081 CPVL Nonsynonymous SNV Y108H 0.033 0.042 0.027 11 39 16 0.028 8 3 1 0 0 25.3 29164 chr7 94227276 94227276 T G rs10247562 SGCE Nonsynonymous SNV S432R 0.712 0.742 0.507 269 836 285 0.69 149 322 112 66 99 Benign 0.022 29165 chr18 2951228 2951228 G C rs762038320 LPIN2 Nonsynonymous SNV H139D 0.005 0 0 1 6 0 0.003 0 0 0 0 0 13.7 29166 chr19 9009663 9009663 A G MUC16 Synonymous SNV N13021N 0.112 0.104 0.156 55 131 40 0.141 46 0 0 0 0 0.002 29167 chr17 78324124 78324124 A G rs776362268 RNF213 Nonsynonymous SNV K3371R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 29168 chr19 9009675 9009675 A G MUC16 Synonymous SNV F13017F 0.077 0.076 0.129 41 90 29 0.105 38 0 0 0 0 3.291 29169 chr19 9009690 9009690 C T rs560877359 MUC16 Synonymous SNV P13012P 0.032 0.034 0.116 17 37 13 0.044 34 0 0 0 0 12.44 29170 chr7 94898811 94898811 G A rs854524 PPP1R9A Nonsynonymous SNV R999Q 0.54 0.531 0.578 203 634 204 0.521 170 196 60 56 58 21.2 29171 chr18 33557466 33557466 A G rs2276314 C18orf21 Nonsynonymous SNV T44A 0.268 0.284 0.248 95 315 109 0.244 73 46 13 7 13 0.001 29172 chr17 7667191 7667191 C T rs200002695 DNAH2 Synonymous SNV V1007V 0.003 0 0 0 4 0 0 0 0 0 0 0 11.22 29173 chr19 9012813 9012813 G A rs749421802 MUC16 Synonymous SNV S12877S 0.057 0.083 0.017 19 67 32 0.049 5 0 0 0 0 6.51 29174 chr17 7452542 7452542 C T rs77711855 TNFSF12, TNFSF12-TNFSF13 Synonymous SNV L24L 0.02 0.016 0.048 13 23 6 0.033 14 2 1 2 0 16.08 29175 chr19 9012816 9012816 G T rs771383463 MUC16 Synonymous SNV G12876G 0.068 0.096 0.02 22 80 37 0.056 6 0 0 0 0 1.318 29176 chr7 94903420 94903420 G A rs2240026 PPP1R9A Nonsynonymous SNV S1039N 0.06 0.073 0.088 30 71 28 0.077 26 2 1 2 0 11.58 29177 chr19 9012819 9012819 T A rs4992694 MUC16 Synonymous SNV P12875P 0.106 0.104 0.078 31 125 40 0.079 23 0 0 0 0 5.063 29178 chr7 29186493 29186493 T C rs140083937 CHN2 Nonsynonymous SNV F64S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 5.374 29179 chr18 33694120 33694120 G A rs1050631 SLC39A6 Synonymous SNV L320L 0.418 0.427 0.412 173 491 164 0.444 121 100 36 27 40 7.619 29180 chr17 78395734 78395734 G A rs34933300 ENDOV Nonsynonymous SNV R112Q 0.307 0.268 0.269 136 360 103 0.349 79 56 14 12 27 5.075 29181 chr19 9012823 9012823 T C rs4992693 MUC16 Nonsynonymous SNV H12874R 0.097 0.122 0.024 31 114 47 0.079 7 0 0 0 0 0.011 29182 chr18 14124359 14124359 G C ZNF519 Synonymous SNV L40L 0.23 0.234 0.15 83 270 90 0.213 44 0 0 0 0 3.843 29183 chr7 94937446 94937446 T C rs662 PON1 Nonsynonymous SNV Q192R 0.284 0.331 0.299 119 334 127 0.305 88 57 23 10 13 association, risk factor 0.003 29184 chr17 7462555 7462555 G A rs11552708 TNFSF13 Nonsynonymous SNV G67R 0.083 0.068 0.085 38 98 26 0.097 25 5 0 2 3 6.77 29185 chr19 9012826 9012826 T C MUC16 Nonsynonymous SNV H12873R 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 0.002 29186 chr18 33718326 33718326 A C rs1785934 ELP2 Nonsynonymous SNV T128P 0.38 0.375 0.323 157 446 144 0.403 95 83 24 16 37 5.899 29187 chr18 30050356 30050356 C T rs11664566 GAREM1 Synonymous SNV K12K 0.153 0.169 0.156 79 180 65 0.203 46 13 7 3 10 16.55 29188 chr18 10705735 10705735 C T rs78023192 PIEZO2 Synonymous SNV T1753T 0.078 0.068 0.027 17 91 26 0.044 8 4 0 0 0 Benign 13.54 29189 chr7 94946084 94946084 A T rs854560 PON1 Nonsynonymous SNV L55M 0.374 0.336 0.395 138 439 129 0.354 116 82 21 23 23 association, risk factor 21.9 29190 chr19 9012840 9012840 G A rs4992692 MUC16 Synonymous SNV Y12868Y 0.17 0.182 0.105 66 200 70 0.169 31 0 0 0 0 1.069 29191 chr19 9024994 9024994 C T rs67631215 MUC16 Nonsynonymous SNV E12290K 0.356 0.31 0.32 125 418 119 0.321 94 69 15 18 23 20.9 29192 chr18 33719434 33719434 C T rs1785932 ELP2 Synonymous SNV A166A 0.379 0.38 0.316 156 445 146 0.4 93 83 24 16 36 11.25 29193 chr7 95001555 95001555 C T rs1053275 PON3 Synonymous SNV A99A 0.46 0.5 0.449 174 540 192 0.446 132 125 46 28 33 13.3 29194 chr7 29966141 29966141 T C rs17324153 SCRN1 Nonsynonymous SNV Q270R 0.045 0.049 0.017 31 53 19 0.079 5 4 0 0 3 16.19 29195 chr18 3067278 3067278 A G rs2230164 MYOM1 Synonymous SNV G1584G 0.465 0.438 0.429 176 546 168 0.451 126 124 34 33 35 Benign 6.706 29196 chr19 9028373 9028373 G A rs56396897 MUC16 Nonsynonymous SNV T12140M 0.267 0.234 0.235 90 313 90 0.231 69 38 7 8 11 22.8 29197 chr18 33725931 33725931 G A rs1785928 ELP2 Nonsynonymous SNV V235M 0.381 0.378 0.323 157 447 145 0.403 95 83 24 16 37 3.76 29198 chr18 13826139 13826139 C T rs45613135 MC5R Synonymous SNV S125S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 10.89 29199 chr18 3075746 3075746 G A rs1143657 MYOM1 Synonymous SNV A1458A 0.209 0.146 0.15 67 245 56 0.172 44 24 5 2 4 Benign 11.06 29200 chr7 95216394 95216394 T G rs4727323 PDK4 Synonymous SNV A341A 0.434 0.424 0.367 154 510 163 0.395 108 114 36 18 26 8.64 29201 chr18 10750150 10750150 G C rs79261438 PIEZO2 Nonsynonymous SNV H1376Q 0.068 0.052 0.044 13 80 20 0.033 13 4 0 1 0 0.003 29202 chr19 9046550 9046550 G A MUC16 Nonsynonymous SNV P11694L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 29203 chr7 30491311 30491311 C T rs2075821 NOD1 Synonymous SNV A574A 0.307 0.289 0.272 123 361 111 0.315 80 48 14 11 20 1.408 29204 chr7 95668664 95668664 C A rs1048666 DYNC1I1 Synonymous SNV G460G 0.227 0.232 0.269 87 267 89 0.223 79 30 9 17 9 Benign 16.25 29205 chr17 76823418 76823418 G T rs150547254 USP36 Nonsynonymous SNV H200N 0.014 0.005 0.01 6 16 2 0.015 3 1 0 0 0 Likely benign 23.4 29206 chr18 33750046 33750046 C T rs8299 ELP2 Synonymous SNV C629C 0.399 0.388 0.344 163 468 149 0.418 101 94 26 18 41 16.56 29207 chr19 9047267 9047267 C T rs10410169 MUC16 Nonsynonymous SNV G11455D 0.337 0.352 0.333 142 396 135 0.364 98 70 24 18 24 7.675 29208 chr7 30492237 30492237 C T rs2075820 NOD1 Nonsynonymous SNV E266K 0.309 0.297 0.262 125 363 114 0.321 77 51 14 10 23 24 29209 chr7 95800820 95800820 T C rs2301629 SLC25A13 Synonymous SNV L399L 0.371 0.352 0.269 144 435 135 0.369 79 89 24 14 26 Benign 9.774 29210 chr18 33767568 33767568 C A rs113873219 MOCOS Nonsynonymous SNV S22R 0.095 0.12 0.071 38 111 46 0.097 21 11 3 4 2 25.1 29211 chr17 76887432 76887432 C A rs111654265 CEP295NL Nonsynonymous SNV C385F 0.114 0.096 0.133 42 134 37 0.108 39 10 2 5 3 4.172 29212 chr19 9047305 9047305 G A rs10415818 MUC16 Synonymous SNV H11442H 0.337 0.352 0.333 142 396 135 0.364 98 70 24 18 24 0.257 29213 chr7 97822115 97822115 T A rs11765552 LMTK2 Nonsynonymous SNV L780M 0.603 0.62 0.636 244 708 238 0.626 187 226 75 56 76 12.24 29214 chr18 21148863 21148863 A G rs12970899 NPC1 Synonymous SNV Y129Y 0.215 0.208 0.255 100 252 80 0.256 75 27 7 10 9 Benign 0.469 29215 chr19 9048035 9048035 G C rs10417358 MUC16 Nonsynonymous SNV A11199G 0.337 0.352 0.333 142 396 135 0.364 98 70 24 18 24 8.293 29216 chr7 30492550 30492550 G A rs2235099 NOD1 Synonymous SNV D161D 0.31 0.297 0.259 126 364 114 0.323 76 51 14 9 23 0.015 29217 chr17 78820374 78820374 G A rs2589156 RPTOR Synonymous SNV Q438Q 0.1 0.107 0.126 49 117 41 0.126 37 8 1 5 5 12.32 29218 chr7 97822210 97822210 G A rs3801294 LMTK2 Synonymous SNV P811P 0.603 0.617 0.636 244 708 237 0.626 187 226 75 56 76 14.03 29219 chr19 9048170 9048170 G A rs10417600 MUC16 Nonsynonymous SNV S11154F 0.337 0.354 0.333 142 396 136 0.364 98 70 24 18 24 16.22 29220 chr7 30496382 30496382 G C rs2075818 NOD1 Synonymous SNV A52A 0.311 0.294 0.265 126 365 113 0.323 78 51 14 11 23 4.571 29221 chr7 97863145 97863145 G A rs2291750 TECPR1 Synonymous SNV V420V 0.18 0.161 0.173 65 211 62 0.167 51 19 8 2 4 8.368 29222 chr18 20793995 20793995 G A rs2304301 CABLES1 Synonymous SNV P355P 0.031 0.023 0.024 8 36 9 0.021 7 1 0 0 0 14.8 29223 chr17 7484101 7484101 C A rs9901673 CD68 Nonsynonymous SNV Q227K 0.123 0.117 0.129 53 144 45 0.136 38 9 1 3 5 22.7 29224 chr17 7721680 7721680 A G rs763586875 DNAH2 Nonsynonymous SNV N3480D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.004 29225 chr18 11689669 11689669 - GGCCCT rs201898548 GNAL A39_P40insLA 0.146 0.133 0.102 58 171 51 0.149 30 31 10 2 6 29226 chr19 9048342 9048342 C T rs10854118 MUC16 Nonsynonymous SNV V11097M 0.379 0.336 0.367 137 445 129 0.351 108 78 22 22 29 1.092 29227 chr18 3168816 3168816 G A rs2230167 MYOM1 Synonymous SNV N446N 0.256 0.263 0.224 115 301 101 0.295 66 45 21 7 19 Benign 12.61 29228 chr18 11689699 11689699 G A rs7236433 GNAL Nonsynonymous SNV R46K 0.176 0.177 0.119 77 207 68 0.197 35 32 12 2 7 0.009 29229 chr7 97922851 97922851 C T rs12728 BAIAP2L1 Synonymous SNV S506S 0.555 0.544 0.585 223 651 209 0.572 172 181 57 48 61 12.91 29230 chr18 3173964 3173964 G A rs2230163 MYOM1 Synonymous SNV H382H 0.311 0.286 0.252 120 365 110 0.308 74 59 19 9 19 Benign 1.158 29231 chr17 7485583 7485583 C T rs62059826 LOC100996842 Nonsynonymous SNV G225R 0.121 0.117 0 53 142 45 0.136 0 8 1 0 5 7.323 29232 chr7 97922875 97922875 G A rs13008 BAIAP2L1 Synonymous SNV R498R 0.484 0.482 0.52 203 568 185 0.521 153 133 42 37 50 7.865 29233 chr7 30795331 30795331 A G rs2302340 INMT Nonsynonymous SNV E218G 0.423 0.401 0.429 164 497 154 0.421 126 86 31 34 34 27.9 29234 chr17 7490810 7490810 G A rs10852891 MPDU1 Nonsynonymous SNV A229T 0.119 0.117 0.126 52 140 45 0.133 37 7 1 3 4 Benign 20.9 29235 chr19 9048895 9048895 A C rs2012761 MUC16 Nonsynonymous SNV S10912R 0.115 0.086 0.092 40 135 33 0.103 27 5 1 3 1 15.1 29236 chr7 98460824 98460824 C A rs10238224 TMEM130 Synonymous SNV V95V 0.825 0.784 0.823 317 968 301 0.813 242 399 119 100 130 10.49 29237 chr17 7734114 7734114 A C rs79350244 DNAH2 Nonsynonymous SNV I4062L 0.054 0.057 0.075 23 63 22 0.059 22 0 0 1 0 Benign 24.2 29238 chr19 9049149 9049149 G A rs12461007 MUC16 Nonsynonymous SNV P10828S 0.338 0.352 0.333 142 397 135 0.364 98 71 24 18 24 0.005 29239 chr7 98506441 98506441 C T rs35310331 TRRAP Synonymous SNV F402F 0.05 0.086 0.071 28 59 33 0.072 21 3 2 0 2 14.63 29240 chr18 3176063 3176063 C T rs2230162 MYOM1 Synonymous SNV G333G 0.306 0.281 0.241 119 359 108 0.305 71 57 18 9 19 Benign 14.46 29241 chr19 9049339 9049339 C G rs11883220 MUC16 Synonymous SNV T10764T 0.505 0.531 0.466 211 593 204 0.541 137 152 57 35 60 9.151 29242 chr17 7734476 7734476 A T rs117465420 DNAH2 Nonsynonymous SNV L4101F 0.053 0.057 0.075 23 62 22 0.059 22 0 0 1 0 Benign 19.64 29243 chr7 98633430 98633430 A C rs219801 LOC101927550 0.014 0.029 0.02 9 16 11 0.023 6 1 0 0 2 1.323 29244 chr19 9049396 9049396 C G rs10425044 MUC16 Synonymous SNV G10745G 0.338 0.352 0.33 142 397 135 0.364 97 71 24 17 24 1.706 29245 chr7 98650051 98650051 G C rs219797 SMURF1 Synonymous SNV S166S 0.515 0.549 0.565 196 605 211 0.503 166 160 51 48 49 1.871 29246 chr19 9056930 9056930 T G rs918535 MUC16 Synonymous SNV T10172T 0.341 0.354 0.337 142 400 136 0.364 99 71 25 18 24 0.22 29247 chr17 79102330 79102330 T C rs11871062 AATK Synonymous SNV T15T 0.067 0.076 0.058 29 79 29 0.074 17 6 1 1 1 2.641 29248 chr7 98782750 98782750 C T rs10953283 KPNA7 Synonymous SNV T312T 0.613 0.568 0.626 241 720 218 0.618 184 226 61 64 77 16.13 29249 chr19 9056941 9056941 A G rs10410136 MUC16 Nonsynonymous SNV F10169L 0.338 0.352 0.333 142 397 135 0.364 98 71 24 18 24 4.701 29250 chr7 30915262 30915262 C T rs10215354 MINDY4 Synonymous SNV N654N 0.072 0.096 0.102 38 84 37 0.097 30 3 2 5 1 9.462 29251 chr18 33831189 33831189 C A rs594445 MOCOS Nonsynonymous SNV H703N 0.279 0.284 0.238 127 328 109 0.326 70 52 17 8 22 23.3 29252 chr7 98790669 98790669 G C rs7783606 KPNA7 Synonymous SNV L203L 0.084 0.091 0.078 23 99 35 0.059 23 6 1 2 2 0.143 29253 chr19 9057408 9057408 A G rs1423051 MUC16 Nonsynonymous SNV L10013P 0.908 0.891 0.881 352 1066 342 0.903 259 482 154 113 159 1.413 29254 chr17 7536527 7536527 G A rs6259 SHBG Nonsynonymous SNV D241N 0.09 0.086 0.088 42 106 33 0.108 26 5 1 2 3 6.754 29255 chr7 98790699 98790699 G A rs7783618 KPNA7 Synonymous SNV N193N 0.084 0.091 0.078 23 99 35 0.059 23 6 1 2 2 0.931 29256 chr19 9057687 9057687 A G rs1895364 MUC16 Nonsynonymous SNV I9920T 0.886 0.87 0.84 348 1040 334 0.892 247 457 147 103 156 2.642 29257 chr7 31008686 31008686 G A rs4988496 GHRHR Nonsynonymous SNV A57T 0.076 0.076 0.065 31 89 29 0.079 19 4 2 2 0 Benign/Likely benign 0.89 29258 chr7 98800834 98800834 A G rs61749907 KPNA7 Synonymous SNV S32S 0.083 0.086 0.078 23 97 33 0.059 23 5 1 2 2 0.042 29259 chr19 9057704 9057704 G T rs12984130 MUC16 Synonymous SNV I9914I 0.377 0.391 0.374 155 443 150 0.397 110 82 29 20 30 5.498 29260 chr18 21481233 21481233 C G rs1154226 LAMA3 Synonymous SNV A384A 0.186 0.201 0.163 78 218 77 0.2 48 14 7 2 5 Benign 13.76 29261 chr7 98984399 98984399 C T rs4765 ARPC1B Synonymous SNV N52N 0.071 0.099 0.092 26 83 38 0.067 27 4 2 3 1 15.23 29262 chr19 9057750 9057750 T A rs12982113 MUC16 Nonsynonymous SNV Y9899F 0.378 0.391 0.374 155 444 150 0.397 110 83 29 20 30 0.156 29263 chr7 31009576 31009576 G T rs4988498 GHRHR Nonsynonymous SNV E121D 0.06 0.07 0.058 23 71 27 0.059 17 2 2 1 0 Benign/Likely benign 12.23 29264 chr18 21511034 21511034 C A rs1154232 LAMA3 Nonsynonymous SNV N1150K 0.139 0.161 0.102 60 163 62 0.154 30 5 3 0 4 Benign 9.004 29265 chr7 99047978 99047978 T C rs883403 CPSF4 Synonymous SNV R129R 0.157 0.174 0.17 65 184 67 0.167 50 17 12 6 3 5.812 29266 chr17 7792326 7792326 C T rs931543 CHD3 Nonsynonymous SNV A3V 0.05 0.055 0.065 15 59 21 0.038 19 0 0 1 0 15.86 29267 chr18 3457539 3457539 A G rs2229337 TGIF1 Synonymous SNV P143P 0.105 0.107 0.109 38 123 41 0.097 32 4 4 5 0 Benign/Likely benign 0.002 29268 chr19 9057896 9057896 G C rs12984471 MUC16 Nonsynonymous SNV D9850E 0.377 0.391 0.374 155 443 150 0.397 110 82 29 20 30 6.082 29269 chr18 3457607 3457607 C T rs2229333 TGIF1 Nonsynonymous SNV P166L 0.085 0.089 0.088 27 100 34 0.069 26 3 2 4 0 Benign/Likely benign 24.2 29270 chr7 99081730 99081730 A G rs6962772 ZNF789 Nonsynonymous SNV T60A 0.156 0.174 0.163 65 183 67 0.167 48 16 12 5 3 0.02 29271 chr19 9058907 9058907 G C rs1833777 MUC16 Nonsynonymous SNV H9513Q 0.339 0.302 0.33 122 398 116 0.313 97 59 20 20 23 0.009 29272 chr7 99145845 99145845 C T rs10238965 FAM200A Synonymous SNV L62L 0.158 0.174 0.163 65 186 67 0.167 48 16 12 5 3 10.17 29273 chr7 31594508 31594508 C T rs2286711 ITPRID1 Synonymous SNV D83D 0.202 0.221 0.156 89 237 85 0.228 46 28 11 5 12 11.5 29274 chr19 9059159 9059159 T G rs12462651 MUC16 Nonsynonymous SNV K9429N 0.114 0.086 0.088 40 134 33 0.103 26 5 1 3 1 1.063 29275 chr18 21513768 21513768 C T rs1131521 LAMA3 Synonymous SNV L1246L 0.139 0.161 0.105 60 163 62 0.154 31 5 3 0 4 Benign 15.65 29276 chr18 346821 346821 C T rs3826628 COLEC12 Synonymous SNV T267T 0.177 0.18 0.177 74 208 69 0.19 52 18 6 5 8 10.55 29277 chr7 99217424 99217424 G A rs10282706 ZSCAN25 Synonymous SNV E65E 0.08 0.081 0.054 32 94 31 0.082 16 1 1 1 0 6.89 29278 chr19 9059232 9059232 T C rs12710265 MUC16 Nonsynonymous SNV Q9405R 0.377 0.388 0.374 155 443 149 0.397 110 82 28 20 30 0.065 29279 chr7 99227172 99227172 A G rs1859690 ZSCAN25 Synonymous SNV E388E 0.076 0.076 0.054 30 89 29 0.077 16 1 1 1 0 7.749 29280 chr17 7606350 7606350 T C rs34016213 WRAP53 Synonymous SNV A436A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign 0.115 29281 chr7 99447241 99447241 T C rs800667 CYP3A43 Synonymous SNV N198N 0.076 0.086 0.105 36 89 33 0.092 31 7 4 1 2 0.014 29282 chr19 9059307 9059307 C T rs12461695 MUC16 Nonsynonymous SNV G9380D 0.114 0.086 0.088 40 134 33 0.103 26 5 1 3 1 6.362 29283 chr7 99474016 99474016 G A rs115589005 OR2AE1 Nonsynonymous SNV S214F 0.001 0.01 0.003 4 1 4 0.01 1 0 0 0 0 17.6 29284 chr19 9059808 9059808 A G rs7508222 MUC16 Nonsynonymous SNV I9213T 0.888 0.87 0.844 349 1043 334 0.895 248 460 147 104 157 0.069 29285 chr19 9060059 9060059 A C rs12977368 MUC16 Nonsynonymous SNV D9129E 0.377 0.388 0.371 156 443 149 0.4 109 82 28 19 30 0.04 29286 chr7 99474427 99474427 A G rs2572023 OR2AE1 Nonsynonymous SNV I77T 0.463 0.435 0.473 169 543 167 0.433 139 106 40 35 43 0.001 29287 chr7 31682601 31682601 T C rs38396 ITPRID1 Synonymous SNV H539H 0.16 0.18 0.146 51 188 69 0.131 43 19 4 4 4 0.011 29288 chr19 9060125 9060125 G A rs12972088 MUC16 Synonymous SNV H9107H 0.377 0.391 0.374 156 443 150 0.4 110 82 28 19 30 0.435 29289 chr7 31682853 31682853 T C rs38397 ITPRID1 Synonymous SNV S623S 0.16 0.18 0.146 51 188 69 0.131 43 19 4 4 4 0.133 29290 chr7 99500911 99500911 A G rs2247761 TRIM4 Synonymous SNV S257S 0.527 0.51 0.537 195 619 196 0.5 158 150 55 44 50 0.008 29291 chr19 9060541 9060541 C T rs11882256 MUC16 Nonsynonymous SNV V8969M 0.284 0.26 0.231 110 333 100 0.282 68 42 12 10 14 0.125 29292 chr17 76127746 76127746 T C rs145016347 TMC8 Nonsynonymous SNV M26T 0.054 0.039 0.071 22 63 15 0.056 21 2 0 0 1 22.3 29293 chr18 2616457 2616457 G C rs9051 NDC80 Nonsynonymous SNV A605P 0.193 0.161 0.17 101 226 62 0.259 50 34 6 9 18 13.17 29294 chr19 9060605 9060605 G A rs2194168 MUC16 Synonymous SNV S8947S 0.888 0.87 0.844 349 1043 334 0.895 248 460 147 104 157 5.495 29295 chr7 99654689 99654689 G A rs11558476 ZSCAN21 Synonymous SNV Q20Q 0.407 0.396 0.412 160 478 152 0.41 121 86 36 21 28 1.649 29296 chr19 9060812 9060812 T C rs1820099 MUC16 Synonymous SNV S8878S 0.888 0.87 0.844 349 1043 334 0.895 248 460 147 104 157 0.101 29297 chr18 43246156 43246156 G A rs9960464 SLC14A2 Nonsynonymous SNV R510Q 0.417 0.401 0.469 181 489 154 0.464 138 97 30 37 40 1.207 29298 chr18 2547480 2547480 T C rs35591317 METTL4 Synonymous SNV K316K 0.04 0.063 0.044 22 47 24 0.056 13 0 0 0 2 3.958 29299 chr7 99690690 99690690 G C rs4928 MCM7 Synonymous SNV V499V 0.053 0.034 0.027 23 62 13 0.059 8 0 1 0 1 3.203 29300 chr19 9061559 9061559 C G rs1423052 MUC16 Synonymous SNV T8629T 0.284 0.26 0.231 110 333 100 0.282 68 42 12 10 14 11.09 29301 chr7 99690747 99690747 T C rs1130958 MCM7 Synonymous SNV R480R 0.053 0.034 0.027 24 62 13 0.062 8 0 1 0 1 0.013 29302 chr19 9062415 9062415 T G rs12978757 MUC16 Nonsynonymous SNV D8344A 0.66 0.651 0.612 266 775 250 0.682 180 250 82 58 91 0.026 29303 chr7 99693552 99693552 G A rs2307355 MCM7 Synonymous SNV A304A 0.053 0.034 0.027 23 62 13 0.059 8 0 1 0 1 9.758 29304 chr19 9062544 9062544 T G rs2547063 MUC16 Nonsynonymous SNV N8301T 0.888 0.87 0.854 349 1042 334 0.895 251 459 147 106 157 0.089 29305 chr7 99725146 99725146 C G rs78225095 MBLAC1 Nonsynonymous SNV S43C 0.052 0.031 0.02 24 61 12 0.062 6 0 1 0 1 24 29306 chr18 43307246 43307246 C T rs11877062 SLC14A1 Nonsynonymous SNV R4W 0.485 0.466 0.483 186 569 179 0.477 142 138 43 35 48 25.5 29307 chr19 9065203 9065203 T C rs62118307 MUC16 Nonsynonymous SNV S7415G 0.115 0.083 0.088 40 135 32 0.103 26 5 1 3 1 0.008 29308 chr18 25616451 25616451 A T rs1944294 CDH2 Stop gain L21X 0.189 0.19 0.184 84 222 73 0.215 54 28 12 5 8 13.7 29309 chr7 99747130 99747130 G A rs12878 LAMTOR4 Synonymous SNV A4A 0.672 0.643 0.694 248 789 247 0.636 204 268 81 68 77 17.92 29310 chr18 20573434 20573434 T C rs34780140 RBBP8 Synonymous SNV D548D 0.02 0.023 0.014 7 24 9 0.018 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 29311 chr7 32598630 32598630 T A rs2290213 AVL9 Nonsynonymous SNV C257S 0.169 0.172 0.133 80 198 66 0.205 39 19 4 1 9 0.002 29312 chr18 43307338 43307338 C A rs11877086 SLC14A1 Synonymous SNV G34G 0.484 0.464 0.483 186 568 178 0.477 142 138 43 35 48 10.28 29313 chr19 9065510 9065510 G A rs1867692 MUC16 Synonymous SNV F7312F 0.122 0.094 0.095 46 143 36 0.118 28 5 1 3 1 1.372 29314 chr18 2595443 2595443 G T rs12456560 NDC80 Nonsynonymous SNV E348D 0.083 0.115 0.061 34 98 44 0.087 18 2 1 1 3 25 29315 chr7 99764274 99764274 C T rs115841575 GAL3ST4 Nonsynonymous SNV G94R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 24.9 29316 chr18 43310415 43310415 G A rs2298720 SLC14A1 Nonsynonymous SNV E100K 0.09 0.102 0.071 40 106 39 0.103 21 5 3 0 0 24 29317 chr19 9066259 9066259 T C rs17000770 MUC16 Nonsynonymous SNV T7063A 0.443 0.43 0.429 176 520 165 0.451 126 107 35 28 36 0.033 29318 chr7 32598656 32598656 C T rs2290214 AVL9 Synonymous SNV S265S 0.213 0.221 0.187 95 250 85 0.244 55 24 10 3 14 2.208 29319 chr7 100064719 100064719 A G rs7806537 TSC22D4 Synonymous SNV L351L 0.446 0.495 0.418 172 524 190 0.441 123 111 44 27 36 0.096 29320 chr19 9068530 9068530 C T rs7250080 MUC16 Nonsynonymous SNV V6306M 0.116 0.083 0.088 40 136 32 0.103 26 5 1 3 1 2.868 29321 chr18 43316538 43316538 A G rs2298718 SLC14A1 Synonymous SNV P64P 0.59 0.586 0.568 231 693 225 0.592 167 208 70 51 71 0.513 29322 chr7 100086901 100086901 C T rs61385156 NYAP1 Synonymous SNV G519G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.332 29323 chr18 43319519 43319519 G A rs1058396 SLC14A1 Nonsynonymous SNV D148N 0.494 0.471 0.476 191 580 181 0.49 140 147 45 35 50 Benign 9.063 29324 chr17 79662243 79662243 C T rs771549376 HGS Nonsynonymous SNV P390L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.26 29325 chr7 32623477 32623477 C G rs34778959 AVL9 Synonymous SNV S635S 0.208 0.221 0.18 95 244 85 0.244 53 23 10 3 14 10.01 29326 chr19 9070079 9070079 C G rs1559170 MUC16 Synonymous SNV T5789T 0.116 0.086 0.088 40 136 33 0.103 26 5 1 3 1 8.703 29327 chr19 9070194 9070194 A G rs1344572 MUC16 Nonsynonymous SNV I5751T 0.913 0.927 0.912 355 1072 356 0.91 268 489 166 121 160 0.081 29328 chr7 100137085 100137085 G C rs78279132 AGFG2 Nonsynonymous SNV C39S 0.066 0.052 0.024 25 77 20 0.064 7 1 2 0 1 14.93 29329 chr18 34647176 34647176 T C rs3747895 KIAA1328 Synonymous SNV P192P 0.163 0.159 0.099 70 191 61 0.179 29 19 5 5 9 0.008 29330 chr18 43417752 43417752 C G rs78530686 SIGLEC15 Synonymous SNV V129V 0.141 0.143 0.112 61 165 55 0.156 33 12 4 3 1 18.36 29331 chr19 9070225 9070225 G C rs1559172 MUC16 Nonsynonymous SNV H5741D 0.838 0.823 0.81 329 984 316 0.844 238 409 135 97 138 0.017 29332 chr7 33388713 33388713 G A rs11773504 BBS9 Nonsynonymous SNV A333T 0.237 0.182 0.18 84 278 70 0.215 53 32 10 4 7 Benign 11.92 29333 chr18 43419003 43419003 T C rs2919643 SIGLEC15 Nonsynonymous SNV F273L 0.163 0.156 0.16 71 191 60 0.182 47 18 5 6 4 9.118 29334 chr7 100175473 100175473 T C rs909152 LRCH4 Synonymous SNV G337G 0.741 0.786 0.721 294 870 302 0.754 212 326 122 77 111 0.019 29335 chr7 100279946 100279946 G A rs117080933 GIGYF1 Synonymous SNV D920D 0.05 0.055 0.024 22 59 21 0.056 7 1 1 0 1 0.008 29336 chr19 9070402 9070402 G T rs12150888 MUC16 Nonsynonymous SNV P5682T 0.327 0.346 0.344 135 384 133 0.346 101 59 23 18 19 0.002 29337 chr18 21181236 21181236 C T rs143279851 ANKRD29 Nonsynonymous SNV R254H 0.009 0.016 0.017 3 10 6 0.008 5 0 0 0 0 26 29338 chr18 43420177 43420177 G A rs61104666 SIGLEC15 Synonymous SNV E292E 0.147 0.141 0.119 63 172 54 0.162 35 12 4 3 2 1.798 29339 chr18 34647323 34647323 T A rs3747896 KIAA1328 Synonymous SNV G241G 0.163 0.159 0.088 70 191 61 0.179 26 19 5 5 9 0.061 29340 chr7 100281768 100281768 T C rs221794 GIGYF1 Synonymous SNV P581P 0.826 0.831 0.84 329 970 319 0.844 247 404 134 108 138 0.008 29341 chr19 9070837 9070837 G A rs2547067 MUC16 Nonsynonymous SNV P5537S 0.838 0.826 0.81 326 984 317 0.836 238 409 136 97 135 0.042 29342 chr18 43481075 43481075 G A rs1893523 EPG5 Nonsynonymous SNV A1511V 0.176 0.169 0.16 67 207 65 0.172 47 17 6 5 2 Benign 0.003 29343 chr7 100304864 100304864 C A rs11559028 POP7 Synonymous SNV V137V 0.101 0.112 0.105 35 119 43 0.09 31 8 2 2 1 12.67 29344 chr19 9071763 9071763 T A rs10422567 MUC16 Nonsynonymous SNV N5228I 0.838 0.826 0.81 329 984 317 0.844 238 409 136 97 138 3.1 29345 chr7 100371474 100371474 G A rs78193191 ZAN 0.319 0.349 0.344 137 375 134 0.351 101 55 21 19 26 Benign 20.4 29346 chr18 43490602 43490602 G A rs3744996 EPG5 Synonymous SNV H1363H 0.17 0.161 0.139 65 199 62 0.167 41 15 5 4 2 Benign 8.967 29347 chr19 9072296 9072296 G T rs7254970 MUC16 Synonymous SNV T5050T 0.327 0.349 0.34 133 384 134 0.341 100 59 23 17 19 2.823 29348 chr18 43534824 43534824 T C rs59422275 EPG5 Nonsynonymous SNV K182E 0.097 0.094 0.102 46 114 36 0.118 30 8 2 2 1 Benign 0.003 29349 chr19 9074265 9074265 G A rs10406209 MUC16 Nonsynonymous SNV T4394I 0.328 0.346 0.34 135 385 133 0.346 100 59 23 17 19 1.282 29350 chr7 100371476 100371476 - G rs148800656 ZAN 0.319 0.349 0.344 137 375 134 0.351 101 55 21 19 26 29351 chr7 100377373 100377373 G A rs482308 ZAN 0.304 0.331 0.32 127 357 127 0.326 94 54 19 17 24 26 29352 chr7 100410597 100410597 G A rs2230585 EPHB4 Synonymous SNV C630C 0.35 0.357 0.367 140 411 137 0.359 108 64 24 20 26 Benign 9.712 29353 chr19 9074493 9074493 G T rs117710966 MUC16 Nonsynonymous SNV A4318D 0.009 0 0.007 4 11 0 0.01 2 0 0 0 0 5.058 29354 chr18 44087525 44087525 C T rs370986239 LOXHD1 Nonsynonymous SNV A129T 0.012 0.013 0 4 14 5 0.01 0 1 0 0 1 8.924 29355 chr7 100411278 100411278 T C rs314359 EPHB4 Synonymous SNV G584G 0.637 0.635 0.626 242 748 244 0.621 184 230 79 59 78 Benign 0.633 29356 chr19 9075346 9075346 T A rs2591592 MUC16 Nonsynonymous SNV I4034F 0.555 0.563 0.578 218 652 216 0.559 170 180 61 51 55 2.569 29357 chr7 100416250 100416250 A G rs144173 EPHB4 Synonymous SNV S438S 0.638 0.635 0.626 243 749 244 0.623 184 231 79 59 79 Benign 0.754 29358 chr17 79952700 79952700 G A rs116149334 ASPSCR1 Synonymous SNV E49E 0.023 0.029 0.024 3 27 11 0.008 7 0 1 0 0 4.834 29359 chr7 100458795 100458795 T C rs314378 SLC12A9 Synonymous SNV A275A 0.55 0.542 0.548 217 646 208 0.556 161 176 53 44 61 0.069 29360 chr18 21594895 21594895 - GCG rs779205034 TTC39C A25_P26insA 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 29361 chr19 9075565 9075565 C T rs17000836 MUC16 Nonsynonymous SNV E3961K 0.115 0.083 0.088 40 135 32 0.103 26 5 1 3 1 7.524 29362 chr17 78319965 78319965 C T rs144098631 RNF213 Synonymous SNV N2610N 0.021 0.026 0.014 6 25 10 0.015 4 0 0 0 0 Benign 3.308 29363 chr7 100468284 100468284 A G rs1054391 TRIP6 Synonymous SNV V306V 0.549 0.536 0.548 216 645 206 0.554 161 175 53 44 60 11.06 29364 chr7 36492092 36492092 G T ANLN Nonsynonymous SNV W1049C 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 34 29365 chr19 9075737 9075737 T C rs2547071 MUC16 Synonymous SNV V3903V 0.394 0.362 0.384 151 462 139 0.387 113 85 28 25 35 0.49 29366 chr7 100482026 100482026 T C rs15624 SRRT Synonymous SNV L265L 0.561 0.552 0.551 222 659 212 0.569 162 187 57 45 64 1.702 29367 chr19 9077196 9077196 C T rs7254941 MUC16 Nonsynonymous SNV R3417Q 0.081 0.047 0.061 24 95 18 0.062 18 3 0 1 1 5.004 29368 chr18 44773382 44773382 A T rs9956387 SKOR2 Nonsynonymous SNV C725S 0.513 0.458 0.364 196 602 176 0.503 107 157 35 24 51 0.015 29369 chr7 100486656 100486656 T G rs13241786 UFSP1 Synonymous SNV V79V 0.589 0.565 0.592 226 691 217 0.579 174 206 60 51 67 0.298 29370 chr7 37298800 37298800 C T rs2717968 ELMO1 Synonymous SNV V133V 0.31 0.32 0.357 104 364 123 0.267 105 58 18 18 14 12.55 29371 chr19 9080462 9080462 C G rs2547065 MUC16 Nonsynonymous SNV S3190T 0.511 0.505 0.452 207 600 194 0.531 133 149 46 30 58 0.931 29372 chr7 100486754 100486754 G C rs12666989 UFSP1 Nonsynonymous SNV L47V 0.169 0.146 0.167 77 198 56 0.197 49 17 5 3 7 0.002 29373 chr19 9082514 9082514 C A rs17000871 MUC16 Nonsynonymous SNV A3101S 0.11 0.078 0.088 40 129 30 0.103 26 4 1 3 1 0.027 29374 chr18 46468946 46468946 G A rs3764482 SMAD7 Nonsynonymous SNV S28F 0.229 0.224 0.228 89 269 86 0.228 67 33 10 10 11 13.96 29375 chr7 100488658 100488658 G C rs1799806 ACHE Nonsynonymous SNV P592R 0.388 0.391 0.306 159 455 150 0.408 90 99 32 22 35 18.14 29376 chr18 23865851 23865851 C T rs12456749 TAF4B Synonymous SNV S326S 0.202 0.206 0.252 97 237 79 0.249 74 25 9 13 16 16.73 29377 chr18 29435690 29435690 G A rs750734168 TRAPPC8 Nonsynonymous SNV S1090F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 29378 chr19 9083143 9083143 G A rs7245949 MUC16 Nonsynonymous SNV T2891I 0.418 0.396 0.405 160 491 152 0.41 119 105 32 25 32 0.68 29379 chr18 47015609 47015609 - A rs36084909 SNORD58C 0.372 0.385 0.384 148 437 148 0.379 113 89 28 24 31 29380 chr18 23872235 23872235 A G rs12963653 TAF4B Nonsynonymous SNV N544S 0.207 0.206 0.262 99 243 79 0.254 77 27 9 15 16 0.025 29381 chr7 37947103 37947103 C T rs1802074 SFRP4 Nonsynonymous SNV R340K 0.241 0.216 0.252 77 283 83 0.197 74 40 10 9 10 2.55 29382 chr19 9083174 9083174 G A rs7245960 MUC16 Nonsynonymous SNV P2881S 0.418 0.398 0.405 160 491 153 0.41 119 105 32 25 32 0.001 29383 chr18 29054100 29054100 G A rs72925163 DSG3 Synonymous SNV T706T 0.041 0.023 0.027 14 48 9 0.036 8 0 0 1 0 8.325 29384 chr17 80013918 80013918 C T rs113959514 GPS1 Synonymous SNV C292C 0.029 0.036 0.02 12 34 14 0.031 6 1 0 0 1 15.97 29385 chr7 100547278 100547278 G A rs73163737 MUC3A Nonsynonymous SNV G8S 0.161 0.156 0.051 59 189 60 0.151 15 0 0 0 0 0.001 29386 chr19 9084183 9084183 G A rs1609460 MUC16 Synonymous SNV P2544P 0.575 0.581 0.534 230 675 223 0.59 157 192 66 46 69 0.785 29387 chr7 100547281 100547281 C A rs73163738 MUC3A Nonsynonymous SNV L9I 0.162 0.154 0.048 60 190 59 0.154 14 0 0 0 0 0.026 29388 chr18 29672835 29672835 G C rs151315163 RNF138 Synonymous SNV T32T 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 15.25 29389 chr18 24496946 24496946 T C rs138794390 CHST9 Synonymous SNV V203V 0.009 0.01 0.017 3 10 4 0.008 5 0 0 0 0 0.144 29390 chr17 80040821 80040821 G A rs138754834 FASN Synonymous SNV L1912L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 8.526 29391 chr19 9084216 9084216 T C rs1609459 MUC16 Synonymous SNV A2533A 0.418 0.398 0.405 159 491 153 0.408 119 105 32 25 32 4.158 29392 chr17 78389478 78389478 G A rs35549084 ENDOV Nonsynonymous SNV V29I 0.068 0.07 0.061 28 80 27 0.072 18 2 0 0 1 0.032 29393 chr7 100547299 100547299 G T rs78614597 MUC3A Nonsynonymous SNV A15S 0.165 0.164 0.048 63 194 63 0.162 14 0 0 0 0 3.184 29394 chr19 9084299 9084299 T C rs1609458 MUC16 Nonsynonymous SNV T2506A 0.575 0.581 0.534 230 675 223 0.59 157 192 66 46 69 0.02 29395 chr18 47455923 47455923 C T rs2298628 MYO5B Synonymous SNV V683V 0.583 0.617 0.517 224 685 237 0.574 152 216 77 48 72 Benign 16.24 29396 chr19 9086123 9086123 A C rs10402812 MUC16 Nonsynonymous SNV Y1898D 0.418 0.398 0.405 160 491 153 0.41 119 105 32 25 32 0.361 29397 chr7 100547307 100547307 G A rs76308179 MUC3A Synonymous SNV P17P 0.17 0.169 0.048 63 199 65 0.162 14 0 0 0 0 7.409 29398 chr7 100547308 100547308 T G rs75384714 MUC3A Nonsynonymous SNV W18G 0.17 0.169 0.048 63 199 65 0.162 14 0 0 0 0 0.002 29399 chr19 9087615 9087615 T A rs1596798 MUC16 Nonsynonymous SNV K1400N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.874 29400 chr18 47777244 47777244 C T rs35193847 CFAP53 Nonsynonymous SNV E294K 0.378 0.326 0.34 133 444 125 0.341 100 89 19 17 24 Benign 18.63 29401 chr18 44143153 44143153 C T rs36086089 LOXHD1 Nonsynonymous SNV V825M 0.103 0.115 0.092 47 121 44 0.121 27 4 3 1 4 Benign 22.5 29402 chr7 100549505 100549505 T C rs74588241 MUC3A Nonsynonymous SNV I29T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.315 29403 chr19 9088017 9088017 T G rs1596797 MUC16 Nonsynonymous SNV K1266N 0.795 0.779 0.793 310 933 299 0.795 233 366 115 94 120 0.138 29404 chr7 38431511 38431511 C T rs2229922 AMPH Synonymous SNV A530A 0.154 0.164 0.133 62 181 63 0.159 39 14 3 0 4 14.77 29405 chr18 30804758 30804758 A C rs457896 CCDC178 Nonsynonymous SNV L600R 0.089 0.099 0.109 42 104 38 0.108 32 3 0 3 3 21.1 29406 chr18 44407993 44407993 G A rs35451178 PIAS2 Synonymous SNV D479D 0.038 0.052 0.051 20 45 20 0.051 15 1 0 0 0 11.08 29407 chr7 38796570 38796570 G A rs2240350 VPS41 Synonymous SNV D496D 0.399 0.388 0.401 150 468 149 0.385 118 98 31 30 26 9.15 29408 chr7 100549512 100549512 A T rs77667788 MUC3A Nonsynonymous SNV Q31H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29409 chr19 9088274 9088274 T C rs368543775 MUC16 Nonsynonymous SNV I1181V 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 0.002 29410 chr7 38805215 38805215 C T rs62444122 VPS41 Nonsynonymous SNV E407K 0.021 0.029 0.017 13 25 11 0.033 5 0 1 0 0 24.1 29411 chr7 100549516 100549516 C A rs76951301 MUC3A Nonsynonymous SNV P33T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.826 29412 chr18 48327815 48327815 G A rs2276186 MRO Synonymous SNV A177A 0.548 0.547 0.486 208 643 210 0.533 143 181 57 37 55 11.34 29413 chr19 9088722 9088722 G A rs17000948 MUC16 Synonymous SNV G1031G 0.109 0.078 0.088 40 128 30 0.103 26 4 1 3 1 0.378 29414 chr7 39379325 39379325 C T rs2074936 POU6F2 Nonsynonymous SNV P228L 0.109 0.117 0.116 49 128 45 0.126 34 8 4 2 3 17.19 29415 chr19 9090531 9090531 T C rs12976721 MUC16 Synonymous SNV E428E 0.419 0.398 0.405 159 492 153 0.408 119 106 32 25 32 0.009 29416 chr18 48331524 48331524 G A rs2586776 MRO Synonymous SNV D143D 0.357 0.372 0.374 147 419 143 0.377 110 79 26 20 27 0.236 29417 chr17 7847837 7847837 A T rs62623385 CNTROB Nonsynonymous SNV N539Y 0.023 0.042 0.01 10 27 16 0.026 3 0 1 0 0 2.094 29418 chr17 7664239 7664239 C T rs12185237 DNAH2 Synonymous SNV A989A 0.053 0.047 0.044 28 62 18 0.072 13 0 0 0 2 13.14 29419 chr7 100549527 100549527 A G rs77426926 MUC3A Synonymous SNV R36R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.009 29420 chr19 9204307 9204307 A G rs4804097 OR1M1 Synonymous SNV P129P 0.719 0.732 0.711 292 844 281 0.749 209 300 99 74 108 0.654 29421 chr18 48331553 48331553 T C rs2849233 MRO Nonsynonymous SNV T134A 0.258 0.245 0.279 109 303 94 0.279 82 38 8 9 14 14.14 29422 chr7 100549530 100549530 A G rs77626205 MUC3A Synonymous SNV A37A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.446 29423 chr19 920642 920642 T A rs350132 KISS1R Nonsynonymous SNV L364H 0.748 0.74 0.789 296 878 284 0.759 232 331 107 94 116 Benign 0.036 29424 chr7 39606107 39606107 G A rs1051162 YAE1 Synonymous SNV A30A 0.137 0.174 0.119 69 161 67 0.177 35 9 5 0 9 13.49 29425 chr7 100549537 100549537 G A rs75781078 MUC3A Nonsynonymous SNV A40T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.458 29426 chr7 39610177 39610177 A G rs6947660 YAE1 Nonsynonymous SNV K68E 0.137 0.174 0.116 69 161 67 0.177 34 9 5 0 9 8.055 29427 chr19 9213026 9213026 T C rs4804400 OR7G2 Synonymous SNV K319K 0.406 0.357 0.34 148 477 137 0.379 100 85 29 17 26 0.008 29428 chr18 29848028 29848028 T C rs34795598 GAREM1 Nonsynonymous SNV I813V 0.049 0.044 0.075 24 57 17 0.062 22 0 0 0 1 0.078 29429 chr7 100549540 100549540 A C rs745478294 MUC3A Nonsynonymous SNV S41R 0.5 0.5 0.5 194 587 192 0.497 147 0 0 0 0 0.002 29430 chr19 9213079 9213079 A C rs4804401 OR7G2 Nonsynonymous SNV F302V 0.406 0.357 0.34 148 477 137 0.379 100 85 29 17 26 0.011 29431 chr18 45779009 45779009 T C rs6507833 C18orf12 Nonsynonymous SNV M113T 0.036 0.049 0 19 42 19 0.049 0 0 0 0 1 0.001 29432 chr18 48723146 48723154 GCCGCCGCG - rs147438518 MEX3C A182_A184del 0.396 0.396 0.33 183 465 152 0.469 97 95 31 20 45 29433 chr7 100549543 100549543 G A rs79492129 MUC3A Nonsynonymous SNV A42T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1.767 29434 chr18 29972964 29972964 A G rs3786308 GAREM1 Synonymous SNV Y52Y 0.104 0.094 0.082 42 122 36 0.108 24 6 0 0 2 0.218 29435 chr17 7850976 7850976 A G rs139292572 CNTROB Nonsynonymous SNV E694G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.8 29436 chr18 45779022 45779022 C T rs61743464 C18orf12 Synonymous SNV L117L 0.03 0.01 0 4 35 4 0.01 0 0 0 0 0 8.72 29437 chr19 9213132 9213132 A G rs12610094 OR7G2 Nonsynonymous SNV V284A 0.459 0.424 0.422 167 539 163 0.428 124 118 42 28 35 0.001 29438 chr18 46196998 46196998 A G rs7235219 MIR4743 0.013 0.005 0.024 3 15 2 0.008 7 0 0 0 0 6.288 29439 chr7 100549547 100549547 T C rs77743944 MUC3A Nonsynonymous SNV V43A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29440 chr18 48723439 48723439 C T rs4396619 MEX3C Synonymous SNV A84A 0.099 0.115 0.122 62 116 44 0.159 36 49 18 12 25 13.95 29441 chr19 9225685 9225685 T C rs2195951 OR7G1 Nonsynonymous SNV Y252C 0.175 0.169 0.129 66 206 65 0.169 38 21 9 2 6 23.4 29442 chr7 100549548 100549548 G C rs76519276 MUC3A Synonymous SNV V43V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.131 29443 chr7 42005678 42005678 G A rs929387 GLI3 Nonsynonymous SNV P998L 0.281 0.279 0.313 129 330 107 0.331 92 45 19 13 25 Benign 8.298 29444 chr7 100549573 100549573 G T rs73163748 MUC3A Nonsynonymous SNV D52Y 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 6.939 29445 chr19 9226017 9226017 C G rs2217657 OR7G1 Nonsynonymous SNV W141C 0.31 0.31 0.293 121 364 119 0.31 86 55 17 13 18 0.002 29446 chr18 50278452 50278452 G A rs376690246 DCC Synonymous SNV L40L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 11.14 29447 chr18 47369758 47369758 C T rs2276170 MYO5B Synonymous SNV L1488L 0.055 0.049 0.031 20 65 19 0.051 9 4 0 0 0 Benign 8.181 29448 chr19 9226192 9226192 A G rs6511874 OR7G1 Nonsynonymous SNV V83A 0.175 0.169 0.129 66 205 65 0.169 38 21 9 2 6 4.559 29449 chr7 100549583 100549583 G A rs73163749 MUC3A Nonsynonymous SNV G55E 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29450 chr18 28722133 28722133 T C rs36081634 DSC1 Synonymous SNV V363V 0.083 0.086 0.037 26 98 33 0.067 11 4 1 0 0 9.148 29451 chr18 47383243 47383243 C T rs1942418 MYO5B Nonsynonymous SNV G1321E 0.057 0.052 0.034 20 67 20 0.051 10 4 0 0 0 Benign 23.9 29452 chr7 100549592 100549592 T A rs73163750 MUC3A Nonsynonymous SNV L58H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 14.61 29453 chr18 32833766 32833766 A C rs61731888 ZSCAN30 Nonsynonymous SNV I191S 0.03 0.031 0.014 14 35 12 0.036 4 0 0 0 0 26.6 29454 chr17 77078069 77078069 G A rs12937557 ENGASE Nonsynonymous SNV R321H 0.053 0.06 0.075 14 62 23 0.036 22 1 2 1 1 31 29455 chr19 9236886 9236886 A G rs10424352 OR7G3 Synonymous SNV V247V 0.291 0.294 0.293 111 342 113 0.285 86 49 24 14 13 0.004 29456 chr19 9237435 9237435 A G rs10407484 OR7G3 Synonymous SNV S64S 0.292 0.294 0.293 111 343 113 0.285 86 49 24 14 13 0.015 29457 chr7 100549593 100549593 T A rs74375072 MUC3A Synonymous SNV L58L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1.375 29458 chr19 9237542 9237542 T C rs10414255 OR7G3 Nonsynonymous SNV M29V 0.291 0.294 0.293 111 342 113 0.285 86 49 24 14 13 0.009 29459 chr7 100549650 100549650 A G rs73398716 MUC3A Synonymous SNV T77T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 29460 chr17 77079576 77079576 A G rs61756761 ENGASE Synonymous SNV R385R 0.069 0.07 0.092 21 81 27 0.054 27 2 2 3 1 4.696 29461 chr19 9296664 9296664 T C rs56246934 OR7D2 Synonymous SNV V69V 0.325 0.318 0.35 162 381 122 0.415 103 61 17 15 36 0.003 29462 chr7 100549697 100549697 A G rs77036391 MUC3A Nonsynonymous SNV N93S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29463 chr18 2890796 2890796 G A rs34307586 EMILIN2 Nonsynonymous SNV R224Q 0.014 0.01 0.017 6 17 4 0.015 5 0 0 0 0 13.06 29464 chr17 79089590 79089590 A G rs4969391 BAIAP2 Nonsynonymous SNV Q519R 0.113 0.086 0.119 44 133 33 0.113 35 10 2 2 2 12.58 29465 chr19 929678 929678 G A rs3826948 ARID3A Synonymous SNV E50E 0.45 0.38 0.486 194 528 146 0.497 143 194 55 50 72 9.379 29466 chr18 52609945 52609945 C T rs61743412 CCDC68 Synonymous SNV T26T 0.032 0.042 0.037 26 37 16 0.067 11 0 0 1 1 13.81 29467 chr19 929753 929753 A G rs1799595 ARID3A Synonymous SNV P75P 0.762 0.729 0.803 297 895 280 0.762 236 406 128 105 127 0.041 29468 chr7 100549703 100549703 C T rs78164286 MUC3A Nonsynonymous SNV P95L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 10.17 29469 chr18 52895531 52895531 T C rs8766 TCF4 Synonymous SNV S487S 0.384 0.359 0.398 159 451 138 0.408 117 84 29 22 35 Benign 7.323 29470 chr19 9325116 9325116 G A rs5020278 OR7D4 Nonsynonymous SNV T133M 0.237 0.242 0.224 109 278 93 0.279 66 34 9 10 17 0.392 29471 chr18 2891847 2891847 C T rs3826638 EMILIN2 Synonymous SNV R574R 0.081 0.076 0.065 23 95 29 0.059 19 6 0 0 2 12.71 29472 chr17 80320303 80320303 G T rs147220016 TEX19 Nonsynonymous SNV G93W 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 23.4 29473 chr7 43519337 43519337 T C rs2304327 HECW1 Synonymous SNV A1042A 0.159 0.172 0.16 63 187 66 0.162 47 18 7 1 4 5.13 29474 chr7 100549787 100549787 C T rs73714227 MUC3A Nonsynonymous SNV S123L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 9.56 29475 chr18 47803066 47803066 C T rs143514309 MBD1 Synonymous SNV R147R 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 10.07 29476 chr19 9325252 9325252 G A rs61729907 OR7D4 Nonsynonymous SNV R88W 0.238 0.242 0.224 110 279 93 0.282 66 34 9 10 17 20.8 29477 chr7 100549788 100549788 A G rs78113948 MUC3A Synonymous SNV S123S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1.644 29478 chr19 9362343 9362343 C T rs2240927 OR7E24 Synonymous SNV S208S 0.275 0.297 0.272 117 323 114 0.3 80 41 13 12 22 10.56 29479 chr18 47812587 47812587 C T rs11555886 CXXC1 Synonymous SNV K88K 0.174 0.146 0.163 65 204 56 0.167 48 14 2 1 6 12.54 29480 chr7 100549840 100549840 C T rs75741102 MUC3A Nonsynonymous SNV P141S 0.164 0.154 0.15 58 192 59 0.149 44 0 0 0 0 13.75 29481 chr19 9362443 9362443 C T rs2240928 OR7E24 Nonsynonymous SNV P242S 0.275 0.297 0.269 117 323 114 0.3 79 41 13 12 22 0.002 29482 chr18 54281790 54281790 T C rs655539 TXNL1 Synonymous SNV L200L 0.073 0.068 0.054 17 86 26 0.044 16 2 1 1 1 7.272 29483 chr7 100549865 100549865 C T rs35420758 MUC3A Nonsynonymous SNV T149M 0.206 0.208 0.194 80 242 80 0.205 57 0 0 0 0 15.87 29484 chr19 965043 965043 T C rs12608658 ARID3A Synonymous SNV N387N 0.973 0.982 0.966 385 1142 377 0.987 284 556 185 138 190 0.12 29485 chr17 80364341 80364341 C T rs34315006 OGFOD3 Synonymous SNV L147L 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 14.66 29486 chr19 966693 966693 C T rs6510986 ARID3A Synonymous SNV A440A 0.898 0.948 0.884 351 1054 364 0.9 260 470 174 116 161 15.58 29487 chr18 54814730 54814730 G A rs58215084 BOD1L2 Nonsynonymous SNV V63M 0.016 0.018 0.007 6 19 7 0.015 2 0 0 0 0 20.3 29488 chr19 971933 971933 A G rs1051504 ARID3A Synonymous SNV G550G 0.774 0.831 0.67 309 909 319 0.792 197 352 136 79 126 0.169 29489 chr7 100549873 100549873 G A rs74193966 MUC3A Nonsynonymous SNV A152T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 4.421 29490 chr17 80373453 80373453 G A rs61742456 OGFOD3 Nonsynonymous SNV P42L 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 0.356 29491 chr7 43846603 43846603 A G rs7738 BLVRA Synonymous SNV G220G 0.4 0.414 0.442 173 470 159 0.444 130 93 30 28 37 8.059 29492 chr19 971949 971949 G A rs1051505 ARID3A Nonsynonymous SNV G556S 0.888 0.938 0.83 348 1042 360 0.892 244 468 173 110 160 2.348 29493 chr18 54814771 54814771 G A rs79220676 BOD1L2 Synonymous SNV A76A 0.017 0.018 0.007 6 20 7 0.015 2 1 0 0 0 10.16 29494 chr7 100549884 100549884 C T rs73163752 MUC3A Synonymous SNV S155S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 10.63 29495 chr17 78059817 78059817 C A rs141343307 CCDC40 Nonsynonymous SNV P751T 0.006 0.013 0.003 4 7 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 29496 chr19 9868278 9868278 T C rs10420364 ZNF846 Nonsynonymous SNV Y363C 0.169 0.193 0.19 75 198 74 0.192 56 8 9 5 9 0.733 29497 chr7 100549894 100549894 T C rs78007565 MUC3A Nonsynonymous SNV S159P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.148 29498 chr18 3255700 3255700 C T rs12606445 LOC104968399 0.089 0.099 0.075 39 105 38 0.1 22 6 4 1 2 7.91 29499 chr19 9868404 9868404 C T rs10414485 ZNF846 Nonsynonymous SNV C321Y 0.169 0.193 0.194 75 198 74 0.192 57 8 9 5 9 0.012 29500 chr7 100549896 100549896 G C rs79035545 MUC3A Synonymous SNV S159S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 2.329 29501 chr18 29104698 29104698 C T rs2230233 DSG2 Synonymous SNV N287N 0.346 0.32 0.357 135 406 123 0.346 105 72 23 21 20 Benign 11.06 29502 chr18 32844056 32844056 G T rs75902053 ZSCAN30 Synonymous SNV I87I 0.036 0.029 0.02 13 42 11 0.033 6 1 0 0 0 10.98 29503 chr7 100549902 100549902 C T rs75991009 MUC3A Synonymous SNV P161P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 12.81 29504 chr19 990281 990281 G A rs2158367 WDR18 Nonsynonymous SNV A172T 0.939 0.956 0.922 370 1102 367 0.949 271 516 178 125 176 20.3 29505 chr18 29126592 29126592 C T rs11542379 DSG2 Synonymous SNV V1081V 0.018 0.016 0.017 10 21 6 0.026 5 0 0 0 0 Benign/Likely benign 12.72 29506 chr7 100549914 100549914 G A rs73714228 MUC3A Synonymous SNV K165K 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 7.783 29507 chr18 29126670 29126670 T C rs1791235 DSG2 Synonymous SNV V1107V 0.342 0.318 0.357 139 402 122 0.356 105 71 21 20 21 Benign 10.33 29508 chr18 55322502 55322502 C T rs12968116 ATP8B1 Nonsynonymous SNV R902Q 0.085 0.076 0.102 45 100 29 0.115 30 4 1 2 1 Benign 24.6 29509 chr7 100549935 100549935 T G rs73714229 MUC3A Nonsynonymous SNV S172R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.006 29510 chr19 991968 991968 T C rs1127043 WDR18 Synonymous SNV N315N 0.354 0.359 0.378 143 416 138 0.367 111 80 29 23 25 0.047 29511 chr7 44099664 44099664 T C rs11552797 DBNL Synonymous SNV A252A 0.236 0.227 0.262 84 277 87 0.215 77 35 4 13 9 6.823 29512 chr18 29205591 29205591 T C rs34683195 B4GALT6 Nonsynonymous SNV I340V 0.051 0.055 0.041 22 60 21 0.056 12 1 0 0 0 0.008 29513 chr19 9964946 9964946 G A rs11556088 OLFM2 Synonymous SNV R349R 0.182 0.193 0.17 61 214 74 0.156 50 25 10 5 6 9.862 29514 chr7 100549942 100549942 T C rs73714230 MUC3A Nonsynonymous SNV S175P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 29515 chr18 55335240 55335240 A G rs4940499 LOC100505549 0.394 0.344 0.391 147 463 132 0.377 115 87 23 18 30 4.301 29516 chr19 9968434 9968434 C T rs2303100 OLFM2 Nonsynonymous SNV R28Q 0.487 0.497 0.527 192 572 191 0.492 155 144 50 39 58 23.3 29517 chr7 44104788 44104788 A C rs61756062 PGAM2 Nonsynonymous SNV I114S 0.029 0.031 0.044 12 34 12 0.031 13 1 0 0 0 Benign/Likely benign 27.1 29518 chr7 100549979 100549979 C T rs73398717 MUC3A Nonsynonymous SNV T187I 0.499 0.5 0.5 194 586 192 0.497 147 0 0 0 0 6.41 29519 chr17 80543972 80543972 C T rs12150682 FOXK2 Nonsynonymous SNV A491V 0.009 0.016 0.01 2 10 6 0.005 3 0 0 0 0 Benign 22.8 29520 chr7 44112694 44112694 C T rs7779139 POLM Synonymous SNV V498V 0.115 0.102 0.092 34 135 39 0.087 27 5 2 2 2 4.103 29521 chr7 100550032 100550032 - CCT rs111723000 MUC3A S207_V208insS 0.499 0.5 0.493 195 586 192 0.5 145 0 0 0 0 29522 chr18 55335550 55335550 A C rs28473343 LOC100505549 0.145 0.203 0 70 170 78 0.179 0 13 9 0 7 0.821 29523 chr18 29772759 29772759 G A rs2289544 MEP1B Synonymous SNV E50E 0.04 0.026 0.031 17 47 10 0.044 9 2 0 1 0 9.308 29524 chr7 100550079 100550079 A C rs28379747 MUC3A Synonymous SNV S220S 0.498 0.497 0.361 195 585 191 0.5 106 0 0 0 0 0.018 29525 chr7 44112873 44112873 G T rs3218660 POLM Nonsynonymous SNV H439N 0.218 0.216 0.241 78 256 83 0.2 71 31 4 11 8 1.381 29526 chr17 80559272 80559272 C T rs35832203 FOXK2 Nonsynonymous SNV P627L 0.035 0.031 0.014 27 41 12 0.069 4 2 1 0 1 20.4 29527 chr7 100550133 100550133 A G rs74197937 MUC3A Synonymous SNV T238T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.012 29528 chr7 44121936 44121936 C A rs3218655 POLM Synonymous SNV L34L 0.11 0.102 0.078 33 129 39 0.085 23 5 2 2 1 19.61 29529 chr7 100550138 100550138 C T rs73714233 MUC3A Nonsynonymous SNV T240M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 6.117 29530 chr18 33702162 33702162 G A rs3737466 SLC39A6 Synonymous SNV F129F 0.065 0.068 0.044 20 76 26 0.051 13 6 2 0 0 10.04 29531 chr7 100550184 100550184 C A rs73714234 MUC3A Synonymous SNV S255S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 8.13 29532 chr18 50866234 50866234 G A DCC Synonymous SNV V772V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.13 29533 chr7 100550191 100550191 C T rs35523587 MUC3A Nonsynonymous SNV P258S 0.289 0.297 0.286 118 339 114 0.303 84 0 0 0 0 5.825 29534 chr18 50866235 50866235 C A DCC Nonsynonymous SNV R773S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 29535 chr18 33739735 33739735 G C rs139343265 ELP2 Synonymous SNV L454L 0.004 0.013 0 0 5 5 0 0 0 0 0 0 Benign 11.58 29536 chr18 34289142 34289142 A G rs61735994 FHOD3 Nonsynonymous SNV Q582R 0.054 0.057 0.065 31 63 22 0.079 19 2 0 1 0 0.003 29537 chr18 56196451 56196451 C T rs7236563 ALPK2 Synonymous SNV K1791K 0.515 0.518 0.541 196 605 199 0.503 159 156 47 42 50 15.13 29538 chr7 44153614 44153614 C G rs61736256 AEBP1 Synonymous SNV G1077G 0.078 0.068 0.065 43 92 26 0.11 19 6 0 0 1 12.2 29539 chr7 100550203 100550203 T A rs75141335 MUC3A Nonsynonymous SNV S262T 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.003 29540 chr7 100550205 100550205 A C rs77471356 MUC3A Synonymous SNV S262S 0.499 0.5 0.5 195 586 192 0.5 147 0 0 0 0 0.011 29541 chr18 56202768 56202768 C A rs3809983 ALPK2 Nonsynonymous SNV A1551S 0.488 0.49 0.51 177 573 188 0.454 150 139 44 38 42 18.18 29542 chr1 100949904 100949904 G A rs28364897 CDC14A Nonsynonymous SNV R52Q 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 Likely benign 22.2 29543 chr18 5145609 5145609 G T rs1395063 AKAIN1 Nonsynonymous SNV H54Q 0.12 0.076 0.099 43 141 29 0.11 29 12 2 2 3 0.039 29544 chr7 100550245 100550245 G A rs66732041 MUC3A Nonsynonymous SNV A276T 0.477 0.474 0.422 190 560 182 0.487 124 0 0 0 0 0.418 29545 chr7 100550252 100550252 A G rs67587735 MUC3A Nonsynonymous SNV Q278R 0.494 0.495 0.405 193 580 190 0.495 119 0 0 0 0 0.001 29546 chr18 56203074 56203074 G A rs3809982 ALPK2 Nonsynonymous SNV P1449S 0.487 0.482 0.51 176 572 185 0.451 150 138 43 38 42 23.4 29547 chr7 100550271 100550271 A G rs71540914 MUC3A Synonymous SNV T284T 0.475 0.477 0.347 192 558 183 0.492 102 0 0 0 0 0.026 29548 chr18 56203120 56203120 C T rs3809981 ALPK2 Synonymous SNV G1433G 0.486 0.482 0.51 176 571 185 0.451 150 138 43 38 42 12.17 29549 chr18 51888347 51888347 T C rs143972273 C18orf54 Synonymous SNV N206N 0.019 0.021 0.014 13 22 8 0.033 4 0 0 0 0 8.589 29550 chr7 100550281 100550281 - TCA rs761895994 MUC3A P288delinsLT 0.097 0.156 0 43 114 60 0.11 0 0 0 0 0 29551 chr18 3729175 3729175 C T rs3745051 DLGAP1 Synonymous SNV P215P 0.164 0.148 0.133 66 192 57 0.169 39 17 5 2 7 11.3 29552 chr7 100550288 100550289 GG - rs773185111 MUC3A R290Nfs*43 0.052 0.083 0 16 61 32 0.041 0 0 0 0 0 29553 chr7 100550291 100550291 C - rs765973058 MUC3A I292Ffs*8 0.041 0.076 0 8 48 29 0.021 0 0 0 0 0 29554 chr7 100550304 100550304 C T rs71540918 MUC3A Synonymous SNV S295S 0.443 0.43 0.245 174 520 165 0.446 72 0 0 0 0 8.544 29555 chr17 79620252 79620252 A G rs757959100 PDE6G Synonymous SNV P28P 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 9.73 29556 chr7 100550307 100550307 A T rs768854732 MUC3A Synonymous SNV T296T 0.346 0.378 0.017 125 406 145 0.321 5 0 0 0 0 0.002 29557 chr18 52604083 52604083 T C rs74991234 CCDC68 Nonsynonymous SNV D151G 0.066 0.07 0.068 27 78 27 0.069 20 2 2 3 1 5.861 29558 chr7 100550312 100550312 T C rs747914533 MUC3A Nonsynonymous SNV V298A 0.364 0.388 0.017 137 427 149 0.351 5 0 0 0 0 0.988 29559 chr17 78165202 78165202 C T rs74951924 CARD14 Synonymous SNV F153F 0.058 0.07 0.024 16 68 27 0.041 7 1 2 0 1 Benign 15.91 29560 chr7 100550315 100550315 T C rs76964559 MUC3A Nonsynonymous SNV L299P 0.489 0.482 0.466 191 574 185 0.49 137 0 0 0 0 0.175 29561 chr7 44611235 44611235 T C rs41279639 DDX56 Nonsynonymous SNV Y249C 0.014 0.023 0.01 4 17 9 0.01 3 0 0 0 0 Benign 19.55 29562 chr18 53070914 53070914 G A rs17522826 TCF4 Nonsynonymous SNV A11V 0.259 0.253 0.218 92 304 97 0.236 64 35 9 7 11 Benign 14.22 29563 chr7 100550318 100550318 G A rs766350584 MUC3A Nonsynonymous SNV S300N 0.365 0.393 0.01 138 429 151 0.354 3 0 0 0 0 0.955 29564 chr17 78169004 78169004 G A rs62074378 CARD14 Synonymous SNV S220S 0.056 0.068 0.02 16 66 26 0.041 6 1 2 0 1 Benign 6.065 29565 chr18 56204388 56204402 CAGTTGATGTGTCCT - rs67925233 ALPK2 E1006_T1010del 0.518 0.518 0.534 193 608 199 0.495 157 157 46 41 49 29566 chr7 100550326 100550326 A G rs111371899 MUC3A Nonsynonymous SNV T303A 0.342 0.357 0.007 122 401 137 0.313 2 0 0 0 0 0.011 29567 chr7 44664106 44664106 C T rs2230445 OGDH Nonsynonymous SNV S55L 0.02 0.026 0.027 13 24 10 0.033 8 0 0 0 0 Benign 26 29568 chr18 56204410 56204410 C T rs55910046 ALPK2 Synonymous SNV R1003R 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 11.95 29569 chr7 100550327 100550327 C T rs373932626 MUC3A Nonsynonymous SNV T303I 0.494 0.492 0.432 195 580 189 0.5 127 0 0 0 0 7.289 29570 chr17 78182030 78182030 C G CARD14 Stop gain Y967X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 29571 chr18 56204671 56204671 A T rs4940404 ALPK2 Nonsynonymous SNV N916K 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 16.58 29572 chr7 44747499 44747499 G A rs2070606 OGDH Synonymous SNV A987A 0.032 0.049 0.054 19 38 19 0.049 16 1 0 1 0 Benign 14.02 29573 chr17 78184679 78184679 C T rs9894254 SGSH Nonsynonymous SNV V361I 0.049 0.047 0.071 29 57 18 0.074 21 1 0 0 1 Benign 22.9 29574 chr7 100550328 100550328 A G rs74866207 MUC3A Synonymous SNV T303T 0.494 0.492 0.459 195 580 189 0.5 135 0 0 0 0 0.018 29575 chr1 10709387 10709387 C T rs150917748 CASZ1 Synonymous SNV A996A 0 0 0.01 0 0 0 0 3 0 0 0 0 19.61 29576 chr7 100550338 100550338 G C rs75318416 MUC3A Nonsynonymous SNV G307R 0.494 0.495 0.456 195 580 190 0.5 134 0 0 0 0 1.684 29577 chr18 54815025 54815025 G T rs11151997 BOD1L2 Nonsynonymous SNV G161V 0.483 0.529 0.537 213 567 203 0.546 158 135 55 47 64 1.932 29578 chr7 100550339 100550339 G A rs80152825 MUC3A Nonsynonymous SNV G307D 0.494 0.495 0.456 195 580 190 0.5 134 0 0 0 0 0.266 29579 chr18 56204932 56204932 T G rs3809973 ALPK2 Nonsynonymous SNV K829N 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 23.8 29580 chr7 100550342 100550342 T C rs74184351 MUC3A Nonsynonymous SNV I308T 0.494 0.495 0.459 195 580 190 0.5 135 0 0 0 0 0.003 29581 chr18 56204945 56204945 C G rs3809972 ALPK2 Nonsynonymous SNV R825T 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 4.764 29582 chr18 3173942 3173942 G A rs758497000 MYOM1 Nonsynonymous SNV L390F 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 Uncertain significance 16.45 29583 chr7 100550348 100550348 A C rs775174499 MUC3A Nonsynonymous SNV N310T 0.31 0.346 0 113 364 133 0.29 0 0 0 0 0 0.002 29584 chr18 56204977 56204977 C T rs3809971 ALPK2 Synonymous SNV T814T 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 13.93 29585 chr7 100550358 100550358 C T rs74184446 MUC3A Synonymous SNV P313P 0.492 0.495 0.408 195 578 190 0.5 120 0 0 0 0 10.02 29586 chr18 43531186 43531186 C T rs117817123 EPG5 Nonsynonymous SNV S424N 0.016 0.005 0.027 4 19 2 0.01 8 0 0 0 0 Benign 23.5 29587 chr1 108138961 108138961 T C rs17229705 VAV3 Synonymous SNV E181E 0.089 0.086 0.105 35 104 33 0.09 31 5 3 0 3 8.869 29588 chr7 45113170 45113170 G A rs2289367 CCM2 Synonymous SNV T214T 0.183 0.203 0.156 64 215 78 0.164 46 14 14 3 6 Benign 13.27 29589 chr18 56204991 56204991 C T rs3809970 ALPK2 Nonsynonymous SNV G810S 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 11.31 29590 chr7 100550360 100550360 T C rs778597860 MUC3A Nonsynonymous SNV L314P 0.326 0.341 0 112 383 131 0.287 0 0 0 0 0 0.193 29591 chr18 55335412 55335412 A G rs317845 LOC100505549 0.327 0.307 0 122 384 118 0.313 0 55 21 0 25 1.359 29592 chr7 100550364 100550364 C T rs74188306 MUC3A Synonymous SNV S315S 0.388 0.388 0.16 141 456 149 0.362 47 0 0 0 0 4.314 29593 chr1 108728484 108728484 T C rs862493 SLC25A24 Synonymous SNV K92K 0.252 0.255 0.163 94 296 98 0.241 48 37 17 6 12 8.63 29594 chr18 56205262 56205262 A C rs12103986 ALPK2 Nonsynonymous SNV H719Q 0.518 0.518 0.537 193 608 199 0.495 158 157 46 42 49 1.86 29595 chr7 100550376 100550376 C T rs764198010 MUC3A Synonymous SNV T319T 0.493 0.495 0.133 195 579 190 0.5 39 0 0 0 0 7.391 29596 chr7 100550384 100550384 C T rs77636516 MUC3A Nonsynonymous SNV P322L 0.494 0.495 0.17 195 580 190 0.5 50 0 0 0 0 7.31 29597 chr18 43577787 43577787 T C rs143925823 PSTPIP2 Synonymous SNV A190A 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 2.431 29598 chr7 100550389 100550389 A G rs747768677 MUC3A Nonsynonymous SNV T324A 0.233 0.258 0.003 77 274 99 0.197 1 0 0 0 0 0.673 29599 chr18 42618578 42618578 G C rs77518617 SETBP1 Nonsynonymous SNV V1377L 0.013 0.005 0.02 3 15 2 0.008 6 0 0 0 0 Benign/Likely benign 12.56 29600 chr7 100550395 100550395 A G rs759956700 MUC3A Nonsynonymous SNV S326G 0.191 0.193 0 51 224 74 0.131 0 0 0 0 0 0.873 29601 chr7 100550396 100550396 G C rs74213821 MUC3A Nonsynonymous SNV S326T 0.495 0.497 0.446 195 581 191 0.5 131 0 0 0 0 0.002 29602 chr18 44624707 44624707 G T rs140964667 KATNAL2 Stop gain E315X 0.028 0.029 0 4 33 11 0.01 0 0 0 0 0 7.805 29603 chr7 100550400 100550400 G A rs761106421 MUC3A Synonymous SNV R327R 0.493 0.49 0.17 195 579 188 0.5 50 0 0 0 0 5.74 29604 chr7 100550447 100550447 C T rs776762595 MUC3A Nonsynonymous SNV T343I 0.49 0.482 0.122 192 575 185 0.492 36 0 0 0 0 3.969 29605 chr7 100550452 100550452 A T rs763292509 MUC3A Nonsynonymous SNV T345S 0.489 0.479 0.129 191 574 184 0.49 38 0 0 0 0 2.08 29606 chr18 56338844 56338844 G A rs981543118 LOC101927322 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 5.628 29607 chr18 56648756 56648756 C T rs61733373 ZNF532 Synonymous SNV H838H 0.171 0.18 0.146 55 201 69 0.141 43 17 5 1 3 19.35 29608 chr7 45148667 45148667 G A rs2304693 TBRG4 Nonsynonymous SNV P68L 0.101 0.13 0.095 46 119 50 0.118 28 2 6 1 4 0.002 29609 chr1 109643072 109643072 C T rs757714681 SCARNA2 0 0 0.003 0 0 0 0 1 0 0 0 0 8.469 29610 chr7 100550463 100550463 T G rs777284610 MUC3A Synonymous SNV T348T 0.493 0.497 0.456 194 579 191 0.497 134 0 0 0 0 3.937 29611 chr7 100550466 100550466 C T rs75319202 MUC3A Synonymous SNV T349T 0.491 0.484 0.344 194 577 186 0.497 101 0 0 0 0 3.221 29612 chr18 43481111 43481111 T G rs748874666 EPG5 Nonsynonymous SNV N1499T 0.003 0 0 0 3 0 0 0 0 0 0 0 19.39 29613 chr7 45148773 45148773 C A rs2304694 TBRG4 Nonsynonymous SNV A33S 0.101 0.13 0.095 46 119 50 0.118 28 2 6 1 4 12.77 29614 chr7 100550467 100550467 A G rs78312717 MUC3A Nonsynonymous SNV K350E 0.491 0.487 0.337 194 577 187 0.497 99 0 0 0 0 0.312 29615 chr18 45779072 45779072 A C rs34153400 C18orf12 Nonsynonymous SNV E134A 0.043 0.052 0 24 50 20 0.062 0 0 0 0 0 12.33 29616 chr7 100550473 100550473 G A rs77401364 MUC3A Nonsynonymous SNV A352T 0.493 0.497 0.327 194 579 191 0.497 96 0 0 0 0 2.217 29617 chr7 45197433 45197433 G A rs67477213 RAMP3 Synonymous SNV E2E 0.183 0.18 0.088 88 215 69 0.226 26 29 10 6 16 7.715 29618 chr7 100550478 100550478 C T rs79412130 MUC3A Synonymous SNV Y353Y 0.493 0.497 0.459 194 579 191 0.497 135 0 0 0 0 4.628 29619 chr7 100550490 100550490 G A rs796897629 MUC3A Nonsynonymous SNV M357I 0.475 0.453 0.143 184 558 174 0.472 42 0 0 0 0 3.471 29620 chr7 45703971 45703971 G A rs1042009 ADCY1 Synonymous SNV T338T 0.666 0.659 0.677 283 782 253 0.726 199 252 87 69 101 3.778 29621 chr7 100550508 100550508 A T rs146219126 MUC3A Synonymous SNV T363T 0.453 0.443 0.095 176 532 170 0.451 28 0 0 0 0 0.249 29622 chr18 57026361 57026361 A G rs33926449 LMAN1 Nonsynonymous SNV V39A 0.143 0.164 0.15 50 168 63 0.128 44 13 5 4 3 Benign 0.002 29623 chr7 100550510 100550510 A C rs796842434 MUC3A Nonsynonymous SNV E364A 0.158 0.138 0.228 63 186 53 0.162 67 0 0 0 0 1.484 29624 chr7 100550511 100550511 G C rs74435283 MUC3A Nonsynonymous SNV E364D 0.459 0.438 0.211 177 539 168 0.454 62 0 0 0 0 1.534 29625 chr7 100550515 100550515 T A rs796491364 MUC3A Nonsynonymous SNV S366T 0.453 0.445 0.276 177 532 171 0.454 81 0 0 0 0 6.912 29626 chr18 47398549 47398549 G A rs3826579 MYO5B Synonymous SNV Y1197Y 0.185 0.206 0.231 88 217 79 0.226 68 18 4 5 7 Benign 5.579 29627 chr7 100550925 100550925 G C rs10953310 MUC3A Synonymous SNV R502R 0.165 0.203 0.51 71 194 78 0.182 150 85 30 68 33 0.114 29628 chr17 8658901 8658901 G A rs74844184 SPDYE4 Nonsynonymous SNV A141V 0.094 0.115 0.099 36 110 44 0.092 29 3 3 1 1 21.4 29629 chr7 100550991 100550991 G A rs62483693 MUC3A Synonymous SNV S524S 0.036 0.042 0.024 14 42 16 0.036 7 0 0 0 0 0.596 29630 chr7 47436497 47436497 G A rs17544028 TNS3 Synonymous SNV S308S 0.131 0.141 0.153 54 154 54 0.138 45 9 2 3 4 10.96 29631 chr18 47429022 47429022 C T rs2298624 MYO5B Nonsynonymous SNV R918H 0.101 0.128 0.122 63 118 49 0.162 36 5 2 1 3 Benign 33 29632 chr7 100551314 100551314 - AT MUC3A Frameshift insertion V633Wfs*2 0.184 0.164 0 94 216 63 0.241 0 0 0 0 0 29633 chr7 100551318 100551318 G A MUC3A Synonymous SNV V633V 0.198 0.195 0 91 232 75 0.233 0 0 0 0 0 2.117 29634 chr7 100551322 100551322 C T rs76260977 MUC3A Nonsynonymous SNV P635S 0.37 0.37 0 155 434 142 0.397 0 0 0 0 0 0.001 29635 chr7 100551326 100551326 - A rs779799724 MUC3A Frameshift insertion P637Tfs*42 0.477 0.479 0 184 560 184 0.472 0 0 0 0 0 29636 chr1 109794890 109794890 C T CELSR2 Nonsynonymous SNV T730M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 29637 chr7 100551329 100551329 - A rs749107413 MUC3A Frameshift insertion V638Cfs*41 0.48 0.479 0 184 563 184 0.472 0 0 0 0 0 29638 chr7 47840387 47840387 C T rs13231277 PKD1L1 Nonsynonymous SNV A2685T 0.128 0.12 0.153 58 150 46 0.149 45 9 4 4 6 0.316 29639 chr7 100551332 100551333 TA - rs754548877 MUC3A V638Dfs*40 0.477 0.479 0 183 560 184 0.469 0 0 0 0 0 29640 chr7 100551370 100551370 A T rs78124935 MUC3A Nonsynonymous SNV S651C 0.302 0.318 0.031 151 354 122 0.387 9 0 0 0 0 0.041 29641 chr18 47788544 47788544 T G rs112087763 CFAP53 Synonymous SNV R39R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.007 29642 chr18 47800179 47800179 G C rs125555 MBD1 Nonsynonymous SNV P322A 0.179 0.174 0.17 77 210 67 0.197 50 23 5 6 10 13 29643 chr7 47869038 47869038 T C rs7788583 PKD1L1 Synonymous SNV A2240A 0.193 0.174 0.18 82 227 67 0.21 53 25 7 6 12 0.283 29644 chr17 80280054 80280054 A C rs61738919 SECTM1 Nonsynonymous SNV Y244D 0.022 0.034 0.02 8 26 13 0.021 6 0 1 0 0 0.001 29645 chr7 100551371 100551371 G C rs75463292 MUC3A Nonsynonymous SNV S651T 0.324 0.328 0.031 158 380 126 0.405 9 0 0 0 0 0.002 29646 chr18 59781800 59781800 A G rs13381627 PIGN Synonymous SNV D415D 0.223 0.279 0.194 106 262 107 0.272 57 33 14 11 17 Benign 0.061 29647 chr7 100551376 100551376 C A rs75808610 MUC3A Synonymous SNV R653R 0.419 0.432 0.031 178 492 166 0.456 9 0 0 0 0 10.28 29648 chr7 47874630 47874630 G A rs66755489 PKD1L1 Nonsynonymous SNV P2021L 0.141 0.12 0.143 60 165 46 0.154 42 13 2 4 5 5.866 29649 chr7 100551390 100551390 T A rs77795035 MUC3A Synonymous SNV P657P 0.488 0.492 0.122 192 573 189 0.492 36 0 0 0 0 0.171 29650 chr18 59805532 59805532 T C rs9959632 PIGN 0.998 1 0.901 389 1172 384 0.997 265 586 192 132 194 Benign 24.6 29651 chr17 80282744 80282744 T C rs146652780 SECTM1 Synonymous SNV T39T 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 0.003 29652 chr7 100551392 100551392 C T rs75008337 MUC3A Nonsynonymous SNV S658L 0.489 0.492 0.129 192 574 189 0.492 38 0 0 0 0 10.58 29653 chr17 80285076 80285076 T C rs73999868 SECTM1 Nonsynonymous SNV Q14R 0.022 0.031 0.031 8 26 12 0.021 9 0 1 0 0 0.001 29654 chr18 59810563 59810563 A G rs34227891 PIGN Synonymous SNV N313N 0.235 0.263 0.248 114 276 101 0.292 73 42 18 13 22 Benign 6.115 29655 chr7 47913560 47913560 G T rs78833972 PKD1L1 Nonsynonymous SNV P1278Q 0.086 0.078 0.112 31 101 30 0.079 33 4 2 5 2 27.7 29656 chr18 45567050 45567050 G A rs71355329 ZBTB7C Synonymous SNV D143D 0.056 0.055 0.027 21 66 21 0.054 8 4 1 0 1 0.002 29657 chr7 100551393 100551393 G A rs79067082 MUC3A Synonymous SNV S658S 0.489 0.492 0.129 192 574 189 0.492 38 0 0 0 0 7.349 29658 chr17 80285085 80285085 T G rs73999869 SECTM1 Nonsynonymous SNV H11P 0.022 0.034 0.031 8 26 13 0.021 9 0 1 0 0 0.004 29659 chr7 100551397 100551397 G T rs79748732 MUC3A Nonsynonymous SNV V660L 0.491 0.495 0.146 192 576 190 0.492 43 0 0 0 0 0.001 29660 chr18 34205525 34205525 G A rs145455632 FHOD3 Nonsynonymous SNV G337R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.6 29661 chr7 100551400 100551400 G A rs75496565 MUC3A Nonsynonymous SNV G661S 0.491 0.495 0.163 192 576 190 0.492 48 0 0 0 0 0.004 29662 chr7 100551433 100551433 T C rs73398732 MUC3A Nonsynonymous SNV F672L 0.491 0.497 0.418 192 577 191 0.492 123 0 0 0 0 0.004 29663 chr17 79095303 79095303 C T rs369739519 AATK Synonymous SNV S708S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.482 29664 chr7 47921682 47921682 A T rs10951936 PKD1L1 Synonymous SNV A1089A 0.349 0.43 0.378 148 410 165 0.379 111 71 38 22 31 0.291 29665 chr18 3452031 3452031 G A rs144435321 TGIF1 Synonymous SNV S18S 0.008 0.01 0.017 6 9 4 0.015 5 0 0 0 0 10.56 29666 chr7 100551461 100551461 C G rs78826835 MUC3A Nonsynonymous SNV T681S 0.5 0.5 0.493 194 587 192 0.497 145 0 0 0 0 0.003 29667 chr18 47455896 47455896 A G rs200559863 MYO5B Synonymous SNV A692A 0.009 0 0.003 0 10 0 0 1 0 0 0 0 Benign/Likely benign 10.27 29668 chr18 60231851 60231851 A G rs12956093 ZCCHC2 Synonymous SNV G578G 0.22 0.208 0.18 96 258 80 0.246 53 35 6 10 14 10.14 29669 chr7 100551471 100551471 T C rs78831742 MUC3A Synonymous SNV T684T 0.5 0.5 0.5 194 587 192 0.497 147 0 0 0 0 0.024 29670 chr7 100551473 100551473 G C rs79233494 MUC3A Nonsynonymous SNV R685P 0.5 0.5 0.5 194 587 192 0.497 147 0 0 0 0 3.966 29671 chr18 60985879 60985879 T C rs1801018 BCL2 Synonymous SNV T7T 0.422 0.435 0.418 140 496 167 0.359 123 99 34 25 25 5.617 29672 chr7 100551476 100551476 C T rs74460367 MUC3A Nonsynonymous SNV T686I 0.5 0.5 0.5 194 587 192 0.497 147 0 0 0 0 0.689 29673 chr1 110766454 110766454 G A rs59123361 KCNC4 Nonsynonymous SNV R516Q 0.136 0.154 0.167 52 160 59 0.133 49 5 5 8 3 22.7 29674 chr7 47971626 47971626 G A rs885338 PKD1L1 Synonymous SNV I142I 0.072 0.081 0.082 34 85 31 0.087 24 2 2 2 0 8.573 29675 chr7 100551565 100551565 A G rs73163757 MUC3A Nonsynonymous SNV M716V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29676 chr7 100551566 100551566 T C rs78538898 MUC3A Nonsynonymous SNV M716T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29677 chr1 110888948 110888948 G A rs61787373 RBM15 Nonsynonymous SNV R961Q 0.098 0.099 0.092 42 115 38 0.108 27 5 3 2 2 5.556 29678 chr18 47811374 47811374 G A rs17660776 CXXC1 Synonymous SNV L304L 0.175 0.182 0.197 67 205 70 0.172 58 11 8 4 5 2.508 29679 chr7 100551578 100551578 T G rs78584246 MUC3A Nonsynonymous SNV I720S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29680 chr18 39584412 39584412 T C rs34205132 PIK3C3 Synonymous SNV D296D 0.046 0.031 0.031 25 54 12 0.064 9 1 0 0 1 1.271 29681 chr18 61170782 61170782 A G rs1455555 SERPINB5 Nonsynonymous SNV I319V 0.472 0.474 0.5 168 554 182 0.431 147 124 42 33 32 0.033 29682 chr18 42529996 42529996 G C rs11082414 SETBP1 Nonsynonymous SNV V231L 0.204 0.258 0.262 70 240 99 0.179 77 28 12 9 6 Benign 0.006 29683 chr17 80585094 80585094 C T rs2291393 WDR45B Synonymous SNV K106K 0.237 0.266 0.245 93 278 102 0.238 72 34 16 9 13 13.47 29684 chr7 100551626 100551626 T C rs73714238 MUC3A Nonsynonymous SNV I736T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29685 chr18 48331612 48331613 AG - rs553835874 MRO L114Dfs*29 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 29686 chr18 52605279 52605279 C T rs72928889 CCDC68 Nonsynonymous SNV C85Y 0.032 0.042 0.041 19 38 16 0.049 12 0 0 1 1 0.412 29687 chr18 61262367 61262367 C T rs17071357 SERPINB13 Synonymous SNV N61N 0.059 0.039 0.037 21 69 15 0.054 11 1 0 0 0 11.35 29688 chr1 110950462 110950462 G A rs11102099 LAMTOR5 Synonymous SNV D9D 0.098 0.096 0.085 35 115 37 0.09 25 4 3 2 2 4.98 29689 chr7 100551637 100551637 - CAA rs112753297 MUC3A T741_Q742insT 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 29690 chr7 100551646 100551646 A G rs77153975 MUC3A Nonsynonymous SNV T743A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 29691 chr18 613202 613202 A G rs8086356 CLUL1 Nonsynonymous SNV N22D 0.334 0.31 0.007 124 392 119 0.318 2 71 26 1 20 2.233 29692 chr7 100551662 100551662 C T rs78684063 MUC3A Nonsynonymous SNV T748M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 3.366 29693 chr18 61387312 61387312 G A rs1506418 SERPINB11 Nonsynonymous SNV A6T 0.273 0.315 0.252 143 321 121 0.367 74 39 16 16 29 26 29694 chr1 111061011 111061011 C A rs3748731 KCNA10 Synonymous SNV R133R 0.302 0.302 0.259 127 355 116 0.326 76 56 16 9 24 8.812 29695 chr7 100551666 100551666 A T rs74318947 MUC3A Synonymous SNV S749S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.007 29696 chr18 61387333 61387333 T A rs1506419 SERPINB11 Nonsynonymous SNV W13R 0.272 0.323 0.252 145 319 124 0.372 74 39 16 16 29 32 29697 chr7 48285485 48285485 C T rs1880738 ABCA13 Nonsynonymous SNV P506L 0.39 0.406 0.381 159 458 156 0.408 112 84 27 20 29 6.05 29698 chr7 100551687 100551687 T C rs73714240 MUC3A Synonymous SNV S756S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 29699 chr1 111146220 111146220 C G rs78349687 KCNA2 Synonymous SNV A395A 0.058 0.055 0.058 8 68 21 0.021 17 2 1 1 0 Benign 6.515 29700 chr18 61387389 61387389 G A rs1506420 SERPINB11 Synonymous SNV E31E 0.226 0.266 0.187 133 265 102 0.341 55 39 16 14 29 13.91 29701 chr18 43252883 43252883 G A rs1123617 SLC14A2 Nonsynonymous SNV V750I 0.164 0.188 0.177 64 193 72 0.164 52 20 10 4 7 21.6 29702 chr18 54291538 54291538 G T rs116949027 TXNL1 Nonsynonymous SNV T117K 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 19.66 29703 chr7 100551692 100551692 C T rs73714242 MUC3A Nonsynonymous SNV A758V 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.068 29704 chr7 48311658 48311658 G A rs17547816 ABCA13 Nonsynonymous SNV E799K 0.089 0.086 0.078 53 104 33 0.136 23 2 0 0 1 12.48 29705 chr7 100551719 100551719 C T rs73714243 MUC3A Nonsynonymous SNV T767M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.969 29706 chr7 48312674 48312674 G A rs1358066 ABCA13 Synonymous SNV V1137V 0.474 0.474 0.469 181 556 182 0.464 138 128 39 30 39 0.023 29707 chr7 100551729 100551729 C T rs73714244 MUC3A Synonymous SNV S770S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 5.039 29708 chr7 100551773 100551773 C A rs73398734 MUC3A Nonsynonymous SNV T785K 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 1.543 29709 chr1 111824209 111824209 G A rs6537690 CHIAP2 0 0 0.156 0 0 0 0 46 0 0 6 0 16.67 29710 chr1 111824255 111824255 C T rs6537691 CHIAP2 0 0 0.197 0 0 0 0 58 0 0 6 0 13.8 29711 chr1 111826023 111826023 C G rs6688201 CHIAP2 0.193 0.211 0.221 89 227 81 0.228 65 27 6 6 8 15.2 29712 chr1 111857208 111857208 G A rs3818822 CHIA Nonsynonymous SNV G102R 0.081 0.104 0.119 41 95 40 0.105 35 3 3 4 1 32 29713 chr7 100551778 100551778 G A rs73714247 MUC3A Nonsynonymous SNV V787M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 4.462 29714 chr18 11752564 11752564 C T rs145400180 GNAL Synonymous SNV R44R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 20.1 29715 chr18 61647069 61647069 G A rs1944270 SERPINB8 Nonsynonymous SNV R68Q 0.284 0.271 0.245 91 334 104 0.233 72 48 10 6 9 4.984 29716 chr7 48315796 48315796 C A rs1880736 ABCA13 Nonsynonymous SNV A2178E 0.628 0.581 0.595 236 737 223 0.605 175 233 62 54 73 1.958 29717 chr7 100551793 100551793 G T rs73398735 MUC3A Nonsynonymous SNV V792F 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.004 29718 chr7 48318811 48318811 C T rs2222648 ABCA13 Nonsynonymous SNV R2674W 0.742 0.695 0.735 293 871 267 0.751 216 325 95 79 109 3.741 29719 chr18 63530016 63530016 A G rs2291343 CDH7 Nonsynonymous SNV N576S 0.77 0.771 0.769 307 904 296 0.787 226 339 114 87 118 13.9 29720 chr18 11893554 11893554 C G rs34932177 MPPE1 Synonymous SNV A101A 0.058 0.034 0.014 23 68 13 0.059 4 1 0 0 0 16.28 29721 chr7 100551840 100551840 T A rs78273697 MUC3A Synonymous SNV S807S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.039 29722 chr7 48336844 48336844 C T rs6583546 ABCA13 Synonymous SNV L3045L 0.619 0.578 0.599 233 727 222 0.597 176 227 65 54 70 2.522 29723 chr7 100551842 100551842 C T rs75365561 MUC3A Nonsynonymous SNV T808I 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.141 29724 chr1 111862074 111862074 C T rs2820092 CHIA Synonymous SNV L226L 0.08 0.107 0.126 40 94 41 0.103 37 3 3 4 1 10.35 29725 chr18 51858197 51858197 A G rs17470798 STARD6 Synonymous SNV S41S 0.227 0.18 0.18 100 266 69 0.256 53 37 4 4 19 6.671 29726 chr18 64211251 64211251 C T rs72954429 CDH19 Nonsynonymous SNV V391M 0.122 0.138 0.119 53 143 53 0.136 35 8 5 2 1 13.69 29727 chr7 100551843 100551843 T C rs75524285 MUC3A Synonymous SNV T808T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.005 29728 chr18 52258548 52258548 T C rs35428499 DYNAP Nonsynonymous SNV V12A 0.138 0.13 0.119 57 162 50 0.146 35 10 3 2 6 0.026 29729 chr7 100551849 100551849 A T rs77242346 MUC3A Synonymous SNV S810S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 29730 chr7 100551990 100551990 A G rs201312695 MUC3A Synonymous SNV P857P 0.043 0.049 0.024 17 51 19 0.044 7 0 0 0 0 0.58 29731 chr7 48626827 48626827 C T rs762458313 ABCA13 Synonymous SNV T4861T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.27 29732 chr7 100552018 100552018 T G rs76249962 MUC3A Nonsynonymous SNV S867A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29733 chr18 56202120 56202120 G A rs7234999 ALPK2 Nonsynonymous SNV H1767Y 0.121 0.122 0.088 34 142 47 0.087 26 7 3 1 2 1.589 29734 chr1 1120431 1120431 G A rs1320571 TTLL10 Nonsynonymous SNV S375N 0.063 0.057 0.068 27 74 22 0.069 20 3 0 1 1 1.334 29735 chr18 60241732 60241732 C T rs3744926 ZCCHC2 Synonymous SNV P806P 0.421 0.406 0.381 152 494 156 0.39 112 100 32 21 21 6.507 29736 chr7 100552020 100552020 C T rs78680358 MUC3A Synonymous SNV S867S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 4.375 29737 chr7 50173777 50173777 A G rs998928 SPATA48 Nonsynonymous SNV T268A 0.371 0.406 0.415 128 435 156 0.328 122 90 40 21 22 3.289 29738 chr7 100552044 100552044 T G rs73714250 MUC3A Synonymous SNV S875S 0.5 0.5 0.497 195 587 192 0.5 146 0 0 0 0 0.069 29739 chr18 56202394 56202394 C T rs7240355 ALPK2 Synonymous SNV K1675K 0.121 0.12 0.092 34 142 46 0.087 27 7 3 1 2 12.75 29740 chr7 100552094 100552094 G C rs62483698 MUC3A Nonsynonymous SNV G892A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29741 chr18 66504351 66504351 G A rs637051 CCDC102B Synonymous SNV R117R 0.361 0.406 0.34 148 424 156 0.379 100 86 31 18 24 12.51 29742 chr1 112539061 112539061 A G rs2366125 LINC01750 0.121 0.148 0.129 49 142 57 0.126 38 14 7 2 2 10.5 29743 chr18 56202683 56202683 T C rs33910491 ALPK2 Nonsynonymous SNV Q1579R 0.121 0.12 0.092 34 142 46 0.087 27 7 3 1 2 2.904 29744 chr7 100552117 100552117 G T rs62483699 MUC3A Nonsynonymous SNV A900S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.096 29745 chr18 55143766 55143766 C T rs3745074 ONECUT2 Synonymous SNV F442F 0.266 0.232 0.211 106 312 89 0.272 62 50 5 7 17 13.76 29746 chr7 100552135 100552135 T C rs62483700 MUC3A Nonsynonymous SNV S906P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29747 chr18 67365668 67365668 A G rs4426448 DOK6 Synonymous SNV T146T 0.48 0.456 0.381 169 563 175 0.433 112 143 41 22 31 0.497 29748 chr18 56203253 56203255 AAG - rs141586980 ALPK2 F1389del 0.121 0.12 0.092 34 142 46 0.087 27 7 3 1 2 29749 chr18 61160320 61160320 G C rs2289520 SERPINB5 Nonsynonymous SNV V187L 0.118 0.133 0.109 44 139 51 0.113 32 14 4 2 3 7.731 29750 chr7 100552251 100552251 T C rs9691900 MUC3A Synonymous SNV S944S 0.584 0.568 0.592 240 686 218 0.615 174 99 26 27 45 0.008 29751 chr18 67531642 67531642 T C rs763361 CD226 Nonsynonymous SNV S152G 0.441 0.461 0.429 182 518 177 0.467 126 117 42 23 35 0.003 29752 chr7 100552311 100552311 C T rs12535515 MUC3A Synonymous SNV T964T 0.525 0.526 0.531 203 616 202 0.521 156 29 10 9 8 8.418 29753 chr18 55240505 55240505 C T rs1041951 FECH Nonsynonymous SNV R96Q 0.076 0.115 0.112 39 89 44 0.1 33 4 3 1 2 Benign 23.2 29754 chr7 100552338 100552338 C T rs73398798 MUC3A Synonymous SNV T973T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 6.309 29755 chr18 46476680 46476680 C T rs144204026 SMAD7 Nonsynonymous SNV G39R 0.022 0.023 0.017 1 26 9 0.003 5 0 0 0 0 Benign 17.73 29756 chr18 55315821 55315821 C T rs753339861 ATP8B1 Nonsynonymous SNV D1169N 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.3 29757 chr7 100552358 100552358 C G rs73714254 MUC3A Nonsynonymous SNV T980S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.002 29758 chr18 67721492 67721492 G C rs34717557 RTTN Nonsynonymous SNV S775C 0.017 0.021 0 9 20 8 0.023 0 1 0 0 0 Benign 27.2 29759 chr1 114354654 114354654 T C rs3195954 RSBN1 Synonymous SNV P127P 0.158 0.159 0.167 79 185 61 0.203 49 19 5 3 7 0.956 29760 chr17 79988304 79988304 T C rs201110968 LRRC45 Nonsynonymous SNV L593P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 29761 chr7 100552371 100552371 C G rs73714255 MUC3A Nonsynonymous SNV I984M 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.003 29762 chr1 114354942 114354942 T G rs3789604 RSBN1 Synonymous SNV R31R 0.159 0.161 0.173 80 187 62 0.205 51 19 5 2 7 0.359 29763 chr18 67833385 67833385 T C rs140245773 RTTN Synonymous SNV E614E 0.019 0.021 0 9 22 8 0.023 0 1 0 0 0 Benign 6.138 29764 chr7 100552384 100552384 A G rs75597914 MUC3A Nonsynonymous SNV T989A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.003 29765 chr7 100552388 100552388 C T rs145584597 MUC3A Nonsynonymous SNV T990I 0.041 0.049 0.027 16 48 19 0.041 8 0 0 0 0 22.9 29766 chr18 61471523 61471523 G A rs17782413 SERPINB7 Nonsynonymous SNV R249Q 0.245 0.281 0.248 79 288 108 0.203 73 39 16 14 9 19.74 29767 chr7 51098568 51098570 TCT - rs142060269 COBL E481del 0.339 0.333 0.33 146 398 128 0.374 97 64 23 16 29 29768 chr18 56205125 56205125 C T rs535244429 ALPK2 Nonsynonymous SNV R765H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.17 29769 chr7 100552390 100552390 T C rs73714257 MUC3A Nonsynonymous SNV Y991H 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29770 chr18 61654297 61654297 A G rs3169983 SERPINB8 Nonsynonymous SNV T124A 0.092 0.07 0.119 45 108 27 0.115 35 5 2 4 1 3.053 29771 chr1 114443899 114443899 G A rs17464525 AP4B1 Synonymous SNV G192G 0.163 0.177 0.177 72 191 68 0.185 52 20 8 3 7 Benign 14.27 29772 chr7 100552412 100552412 T C rs73714259 MUC3A Nonsynonymous SNV M998T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29773 chr18 6971936 6971936 C T rs615809 LAMA1 Synonymous SNV G2273G 0.027 0.026 0.017 14 32 10 0.036 5 0 0 0 0 18.54 29774 chr7 100552435 100552435 T A rs76244845 MUC3A Nonsynonymous SNV S1006T 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29775 chr7 53103673 53103673 C A rs1184320 POM121L12 Synonymous SNV P103P 0.35 0.344 0.384 145 411 132 0.372 113 75 22 25 24 13.67 29776 chr1 114524182 114524182 C T OLFML3 Nonsynonymous SNV R277C 0 0 0.007 0 0 0 0 2 0 0 0 0 34 29777 chr17 8272638 8272638 A G rs143766177 KRBA2 Synonymous SNV A349A 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 1.344 29778 chr7 100552436 100552436 C T rs78685360 MUC3A Nonsynonymous SNV S1006L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.807 29779 chr18 56202231 56202231 T C rs17065127 ALPK2 Nonsynonymous SNV K1730E 0.026 0.018 0.027 4 31 7 0.01 8 1 0 0 0 25.2 29780 chr1 114680540 114680540 C T rs17032441 SYT6 Synonymous SNV S216S 0.267 0.24 0.238 103 313 92 0.264 70 44 8 8 12 14.09 29781 chr18 6997818 6997818 A C rs12961939 LAMA1 Nonsynonymous SNV S1577A 0.28 0.336 0.279 132 329 129 0.338 82 46 22 12 16 Benign 9.175 29782 chr7 100552440 100552440 C T rs80290400 MUC3A Synonymous SNV P1007P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.18 29783 chr7 55229255 55229255 G A rs2227983 EGFR Nonsynonymous SNV R254K 0.297 0.286 0.272 111 349 110 0.285 80 51 13 8 12 Benign 0.047 29784 chr1 1148445 1148445 G A rs34160451 TNFRSF4 Synonymous SNV C99C 0.016 0.013 0.014 11 19 5 0.028 4 0 0 0 0 Benign 0.264 29785 chr7 100552535 100552535 G A rs73163758 MUC3A Nonsynonymous SNV S1039N 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.001 29786 chr18 7017322 7017322 A G rs539713 LAMA1 Synonymous SNV C921C 0.633 0.563 0.599 224 743 216 0.574 176 229 57 55 61 0.032 29787 chr18 56338792 56338792 G A rs56142402 LOC101927322 0.072 0.07 0.078 14 84 27 0.036 23 7 0 4 0 Benign 14.25 29788 chr7 100552536 100552536 T C rs73163759 MUC3A Synonymous SNV S1039S 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.041 29789 chr18 48255777 48255777 C A rs201371342 MAPK4 Nonsynonymous SNV D228E 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 26.6 29790 chr18 7023371 7023371 A G rs684634 LAMA1 Synonymous SNV C831C 0.384 0.341 0.388 128 451 131 0.328 114 77 20 24 13 8.124 29791 chr18 66358515 66358516 AA - rs143627864 TMX3 Stop gain F191* 0.099 0.122 0.078 61 116 47 0.156 23 5 5 0 3 29792 chr7 100552549 100552549 C A rs73163760 MUC3A Nonsynonymous SNV L1044I 0.499 0.5 0.493 194 586 192 0.497 145 0 0 0 0 8.98 29793 chr18 56940274 56940274 C T RAX Synonymous SNV R55R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 29794 chr1 115130508 115130508 A G rs61753528 DENND2C Nonsynonymous SNV Y776H 0.002 0 0.01 0 2 0 0 3 0 0 0 0 27.3 29795 chr18 7033037 7033037 G A rs621993 LAMA1 Synonymous SNV A703A 0.413 0.383 0.412 138 485 147 0.354 121 96 26 26 16 8.394 29796 chr7 55433880 55433880 G C rs2272262 LANCL2 Synonymous SNV A54A 0.252 0.227 0.34 100 296 87 0.256 100 50 9 21 14 9.538 29797 chr18 7034508 7034508 T G rs566655 LAMA1 Nonsynonymous SNV N674T 0.245 0.266 0.259 85 288 102 0.218 76 38 13 12 4 Benign 14.64 29798 chr7 100552550 100552550 T C rs73163762 MUC3A Nonsynonymous SNV L1044P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.007 29799 chr7 55433884 55433884 A C rs2272263 LANCL2 Nonsynonymous SNV T56P 0.234 0.206 0.296 90 275 79 0.231 87 46 8 16 12 0.004 29800 chr18 58038710 58038710 G A rs752539420 MC4R Synonymous SNV I291I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 29801 chr7 100552577 100552577 C T rs144580177 MUC3A Nonsynonymous SNV P1053L 0.043 0.047 0.034 16 50 18 0.041 10 0 0 0 0 23.8 29802 chr7 56145825 56145825 G A rs35384521 SUMF2 Nonsynonymous SNV D124N 0.029 0.029 0.007 15 34 11 0.038 2 0 0 0 0 33 29803 chr18 71740743 71740743 A G rs35815390 FBXO15 Nonsynonymous SNV Y496H 0.034 0.044 0.044 9 40 17 0.023 13 1 0 0 0 23.7 29804 chr7 100552644 100552644 C A rs2904850 MUC3A Synonymous SNV P1075P 0.503 0.503 0.507 196 591 193 0.503 149 7 1 2 1 8.397 29805 chr18 56203837 56203837 G A rs17065139 ALPK2 Synonymous SNV S1194S 0.026 0.018 0.024 4 31 7 0.01 7 1 0 0 0 8.692 29806 chr18 5890777 5890777 T A rs146496912 TMEM200C Nonsynonymous SNV E429V 0.09 0.078 0.085 30 106 30 0.077 25 2 1 0 2 13.46 29807 chr7 56183969 56183969 C T rs957454598 NUPR2 Synonymous SNV Q13Q 0.008 0.016 0 5 9 6 0.013 0 0 0 0 0 7.824 29808 chr7 100552657 100552657 A G rs75471530 MUC3A Nonsynonymous SNV T1080A 0.497 0.5 0.5 195 584 192 0.5 147 0 0 0 0 0.002 29809 chr7 100552659 100552659 T C rs78182596 MUC3A Synonymous SNV T1080T 0.497 0.5 0.5 195 584 192 0.5 147 0 0 0 0 0.123 29810 chr18 67425051 67425051 C T rs149944817 DOK6 Synonymous SNV S266S 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 17.96 29811 chr7 64166802 64166802 G T rs73138709 ZNF107 Nonsynonymous SNV E77D 0.06 0.06 0.061 36 71 23 0.092 18 1 0 0 1 0.222 29812 chr7 100552675 100552675 C T rs73163764 MUC3A Nonsynonymous SNV P1086S 0.497 0.5 0.5 195 584 192 0.5 147 0 0 0 0 1.395 29813 chr7 100552711 100552711 T A rs75799835 MUC3A Nonsynonymous SNV S1098T 0.465 0.487 0.456 179 546 187 0.459 134 0 0 0 0 0.883 29814 chr18 67534632 67534632 C T rs72481819 CD226 Synonymous SNV E127E 0.026 0.039 0.041 8 31 15 0.021 12 0 0 0 1 4.346 29815 chr18 67687860 67687860 T C rs2304378 RTTN Synonymous SNV V1136V 0.31 0.31 0.306 110 364 119 0.282 90 54 22 17 11 Benign 9.877 29816 chr7 100552713 100552713 A G rs75130157 MUC3A Synonymous SNV S1098S 0.465 0.487 0.449 179 546 187 0.459 132 0 0 0 0 0.006 29817 chr1 116310967 116310967 T C rs4074536 CASQ2 Nonsynonymous SNV T66A 0.329 0.328 0.381 149 386 126 0.382 112 62 18 17 28 Benign 0.002 29818 chr7 100552727 100552727 G C rs74529310 MUC3A Nonsynonymous SNV R1103P 0.497 0.5 0.5 195 584 192 0.5 147 0 0 0 0 0.565 29819 chr7 100552733 100552733 C G rs79685001 MUC3A Nonsynonymous SNV T1105S 0.036 0.042 0.024 14 42 16 0.036 7 0 0 0 0 0.018 29820 chr1 116563393 116563393 A T rs201922814 SLC22A15 Nonsynonymous SNV Y162F 0 0 0.007 0 0 0 0 2 0 0 0 0 16.4 29821 chr18 21424991 21424991 C A rs17202961 LAMA3 Nonsynonymous SNV P1208T 0.069 0.065 0.095 22 81 25 0.056 28 3 0 2 2 25.5 29822 chr7 100552738 100552738 C T rs79874934 MUC3A Stop gain Q1107X 0.497 0.5 0.5 195 584 192 0.5 147 0 0 0 0 28 29823 chr18 72347482 72347482 T C rs12327359 ZNF407 Synonymous SNV L1503L 0.433 0.398 0.381 162 508 153 0.415 112 104 29 18 26 Benign 0.066 29824 chr18 56204768 56204768 G A rs3809974 ALPK2 Nonsynonymous SNV S884L 0.026 0.018 0.024 4 31 7 0.01 7 1 0 0 0 23.1 29825 chr7 100552739 100552739 A G rs75517157 MUC3A Nonsynonymous SNV Q1107R 0.497 0.5 0.5 195 584 192 0.5 147 0 0 0 0 0.026 29826 chr7 100552915 100552915 A C rs2904852 MUC3A Synonymous SNV G1130G 0.882 0.839 0.881 348 1035 322 0.892 259 448 130 112 153 0.017 29827 chr7 100552978 100552978 T C rs73163765 MUC3A Synonymous SNV N1151N 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.013 29828 chr1 117311147 117311147 C A rs699738 CD2 Nonsynonymous SNV H292Q 0.126 0.102 0.136 51 148 39 0.131 40 12 2 3 4 4.118 29829 chr7 100552984 100552984 T C rs73163766 MUC3A Synonymous SNV G1153G 0.499 0.5 0.493 194 586 192 0.497 145 0 0 0 0 0.009 29830 chr7 100553002 100553002 A G rs68094465 MUC3A Synonymous SNV K1159K 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 0.056 29831 chr7 64439701 64439701 C T rs3807069 ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV C83Y 0.274 0.302 0.18 97 322 116 0.249 53 46 25 12 12 22.7 29832 chr7 100607851 100607851 C G rs6960854 MUC3A Synonymous SNV L1276L 0.501 0.5 0.503 196 588 192 0.503 148 1 0 1 1 2.265 29833 chr18 73000005 73000005 G A rs34878160 TSHZ1 Synonymous SNV P881P 0.024 0.013 0.031 5 28 5 0.013 9 0 0 0 0 Benign 4.208 29834 chr7 100607871 100607871 C T rs6960868 MUC3A Nonsynonymous SNV A1283V 0.484 0.49 0.486 188 568 188 0.482 143 0 0 0 0 3.142 29835 chr1 117552560 117552560 T C rs7554376 CD101 Synonymous SNV N44N 0.034 0.034 0.041 9 40 13 0.023 12 0 0 0 0 0.02 29836 chr18 74091461 74091461 T C rs199852420 ZNF516 Nonsynonymous SNV H870R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.007 29837 chr1 117554421 117554421 A G rs3754112 CD101 Nonsynonymous SNV N225S 0.37 0.357 0.32 138 434 137 0.354 94 82 26 17 26 0.033 29838 chr7 100608370 100608370 A C rs73714276 MUC3A 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 20.6 29839 chr18 21745053 21745053 T C rs754066370 OSBPL1A Nonsynonymous SNV K396R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 29840 chr18 74207594 74207594 T C rs3813101 C18orf65 0.091 0.057 0 32 107 22 0.082 0 8 2 0 1 12.09 29841 chr7 100608778 100608778 T C rs73163792 MUC3A Synonymous SNV P1329P 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 6.432 29842 chr7 100608779 100608779 C T rs73163793 MUC3A Synonymous SNV L1330L 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 11.87 29843 chr1 117560058 117560058 C G rs17235773 CD101 Nonsynonymous SNV S525R 0.03 0.029 0.037 9 35 11 0.023 11 0 0 0 0 17.86 29844 chr7 64452738 64452738 G A rs67047829 ERV3-1 Stop gain R223X 0.17 0.156 0.105 86 200 60 0.221 31 16 4 3 10 35 29845 chr18 74208737 74208737 T C rs6565888 C18orf65 1 1 0 389 1174 384 0.997 0 587 192 0 194 3.199 29846 chr7 100608823 100608823 G T rs35790618 MUC3A Synonymous SNV S1344S 0.372 0.414 0.316 141 437 159 0.362 93 0 0 0 0 14.13 29847 chr7 100608826 100608826 C G rs73163794 MUC3A Synonymous SNV G1345G 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 16.91 29848 chr1 117603156 117603156 G T rs2274253 TTF2 Synonymous SNV T36T 0.038 0.042 0.061 16 45 16 0.041 18 2 0 3 1 15.65 29849 chr7 100608868 100608868 A G rs67377634 MUC3A Synonymous SNV L1359L 0.5 0.5 0.493 195 587 192 0.5 145 0 0 0 0 9.251 29850 chr18 74637167 74637167 C T rs61739891 ZNF236 Synonymous SNV H1228H 0.037 0.029 0.01 13 43 11 0.033 3 0 0 0 1 16.49 29851 chr18 71816278 71816278 G A rs3737512 TIMM21 Nonsynonymous SNV G79S 0.041 0.036 0.051 20 48 14 0.051 15 1 0 1 1 0.009 29852 chr18 60645818 60645818 C T rs62100048 PHLPP1 Synonymous SNV A1436A 0.03 0.036 0.02 5 35 14 0.013 6 0 1 0 0 8.899 29853 chr7 100608884 100608884 G A rs73163797 MUC3A Nonsynonymous SNV A1365T 0.5 0.5 0.493 195 587 192 0.5 145 0 0 0 0 7.598 29854 chr18 74680208 74680208 C T rs73968242 ZNF236 Synonymous SNV D1819D 0.504 0.51 0.449 199 592 196 0.51 132 156 49 34 50 18.67 29855 chr7 100610069 100610069 C T rs10258821 MUC3A Nonsynonymous SNV H1462Y 0.467 0.471 0.452 181 548 181 0.464 133 9 3 4 2 7.4 29856 chr18 74701984 74701984 G A rs470797 MBP Synonymous SNV Y70Y 0.187 0.159 0.102 73 220 61 0.187 30 21 5 2 6 9.175 29857 chr7 100612945 100612945 C T rs76619309 MUC12 Synonymous SNV C14C 0.498 0.497 0.429 195 585 191 0.5 126 0 0 0 0 7.871 29858 chr1 11766424 11766424 C T rs11121804 DRAXIN Nonsynonymous SNV L37F 0.081 0.068 0.122 38 95 26 0.097 36 4 0 3 1 16.26 29859 chr7 100612952 100612952 G A rs79881008 MUC12 Nonsynonymous SNV V17I 0.498 0.497 0.432 195 585 191 0.5 127 0 0 0 0 0.002 29860 chr7 72985148 72985148 C T rs35607697 TBL2 Nonsynonymous SNV V180I 0.045 0.049 0.058 15 53 19 0.038 17 0 0 1 1 26.3 29861 chr7 100612955 100612955 - CTG rs150485202 MUC12 T18_T19insA 0.498 0.497 0.429 194 585 191 0.497 126 0 0 0 0 29862 chr18 12014325 12014325 G A rs12956274 IMPA2 Nonsynonymous SNV R148Q 0.031 0.034 0.007 16 36 13 0.041 2 1 0 0 0 15.11 29863 chr7 100612961 100612961 G C rs78487486 MUC12 Nonsynonymous SNV V20L 0.498 0.497 0.429 194 585 191 0.497 126 0 0 0 0 0.001 29864 chr7 73011060 73011060 C T rs41271232 MLXIPL Synonymous SNV P577P 0.073 0.078 0.136 46 86 30 0.118 40 5 1 4 3 8.771 29865 chr7 100612969 100612969 A G rs73168328 MUC12 Synonymous SNV P22P 0.498 0.495 0.429 194 585 190 0.497 126 0 0 0 0 1.185 29866 chr7 73020439 73020439 C T rs12539160 MLXIPL Synonymous SNV A207A 0.045 0.042 0.058 20 53 16 0.051 17 1 0 1 0 12.68 29867 chr18 72344223 72344223 T C rs3794941 ZNF407 Synonymous SNV P416P 0.172 0.151 0.133 52 202 58 0.133 39 13 5 2 1 Likely benign 2.748 29868 chr7 100648029 100648029 G A rs10953315 MUC12 Nonsynonymous SNV A4729T 0.764 0.797 0.789 298 897 306 0.764 232 340 122 88 115 0.018 29869 chr18 72345890 72345890 A C rs948615 ZNF407 Nonsynonymous SNV N972T 0.172 0.151 0.133 53 202 58 0.136 39 13 5 2 1 Likely benign 0.002 29870 chr18 76873288 76873288 A G rs34331564 ATP9B Synonymous SNV V164V 0.041 0.029 0.024 17 48 11 0.044 7 3 0 0 0 8.601 29871 chr7 100731829 100731829 T C rs6948536 TRIM56 Synonymous SNV A412A 0.752 0.779 0.772 289 883 299 0.741 227 326 117 90 102 0.011 29872 chr17 8139555 8139555 T C CTC1 Nonsynonymous SNV M300V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 29873 chr7 100817901 100817901 A G rs34985488 NAT16 Nonsynonymous SNV F63S 0.083 0.073 0.099 30 98 28 0.077 29 4 1 1 1 28.7 29874 chr7 73151644 73151644 A G rs6460052 ABHD11 Synonymous SNV Y67Y 0.585 0.549 0.575 200 687 211 0.513 169 192 56 51 49 0.002 29875 chr1 11832289 11832289 C A rs61773952 C1orf167 Nonsynonymous SNV P654H 0.174 0.214 0.201 72 204 82 0.185 59 17 7 8 4 14.72 29876 chr18 59780393 59780393 T A rs3862712 PIGN Nonsynonymous SNV I470L 0.147 0.143 0.116 48 173 55 0.123 34 16 4 2 5 Benign 12.54 29877 chr7 73279361 73279361 C T rs61742124 TMEM270 Synonymous SNV L37L 0.263 0.271 0.245 112 309 104 0.287 72 43 9 11 18 14.82 29878 chr18 72914280 72914280 G A rs7230037 ZADH2 Synonymous SNV N75N 0.376 0.38 0.327 162 441 146 0.415 96 83 28 10 29 4.572 29879 chr7 101256833 101256833 T C rs2240389 MYL10 Synonymous SNV A201A 0.279 0.263 0.259 73 327 101 0.187 76 41 12 4 7 4.14 29880 chr7 73470714 73470714 G A rs2071307 ELN Nonsynonymous SNV G412S 0.348 0.406 0.289 149 408 156 0.382 85 68 31 18 30 Benign 6.674 29881 chr18 72997677 72997677 C T rs3826609 TSHZ1 Synonymous SNV S105S 0.325 0.336 0.357 121 381 129 0.31 105 65 16 24 20 Benign 10.38 29882 chr7 101837149 101837149 G A rs2230104 CUX1 Synonymous SNV P363P 0.47 0.51 0.415 176 552 196 0.451 122 132 49 18 35 12.18 29883 chr18 77440128 77440128 T G rs17855830 CTDP1 Nonsynonymous SNV S61A 0.52 0.495 0.071 182 611 190 0.467 21 237 72 9 61 Benign 0.001 29884 chr18 2616504 2616504 G A rs772517003 NDC80 Synonymous SNV S620S 0.003 0 0 0 4 0 0 0 0 0 0 0 9.914 29885 chr7 101844851 101844851 A G rs60987662 CUX1 Synonymous SNV P769P 0.463 0.503 0.408 172 543 193 0.441 120 127 47 18 35 6.406 29886 chr17 8166458 8166458 T A rs35217368 PFAS Nonsynonymous SNV F481Y 0.066 0.104 0.085 34 78 40 0.087 25 1 1 1 3 23.9 29887 chr7 101916647 101916647 A G rs813000 CUX1 Synonymous SNV A406A 0.725 0.703 0.731 270 851 270 0.692 215 315 95 78 91 7.967 29888 chr7 101917521 101917521 G A rs803064 CUX1 Nonsynonymous SNV A448T 0.548 0.521 0.582 198 643 200 0.508 171 181 48 52 48 5.82 29889 chr18 77623691 77623691 - GGC rs71338073 KCNG2 G13_T14insG 0.184 0.167 0.299 79 216 64 0.203 88 63 18 18 24 29890 chr18 72999359 72999359 T C rs55679337 TSHZ1 Nonsynonymous SNV L666P 0.398 0.406 0.408 158 467 156 0.405 120 87 28 31 31 Benign 7.638 29891 chr7 75172270 75172270 G A rs1167794 HIP1 Synonymous SNV P879P 0.151 0.156 0.153 75 177 60 0.192 45 15 7 5 7 12.71 29892 chr18 77659553 77659553 C T rs75339189 KCNG2 Synonymous SNV L380L 0.106 0.096 0.119 48 125 37 0.123 35 6 1 0 4 12.32 29893 chr7 102079604 102079604 C T rs1133472 ORAI2 Synonymous SNV S67S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 14.11 29894 chr7 75176300 75176300 T C rs1167801 HIP1 Synonymous SNV Q832Q 0.152 0.159 0.153 77 178 61 0.197 45 15 7 6 7 2.619 29895 chr18 72999404 72999404 C T rs111787453 TSHZ1 Nonsynonymous SNV P681L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.408 29896 chr7 102112980 102112980 G A rs3800987 LRWD1 Synonymous SNV T386T 0.698 0.716 0.667 273 819 275 0.7 196 290 94 68 93 7.683 29897 chr18 77746623 77746623 T C rs8086024 TXNL4A Synonymous SNV R5R 0.752 0.771 0 290 883 296 0.744 0 330 112 0 117 10.33 29898 chr7 102575000 102575002 GAA - rs3832497 LRRC17 E216del 0.84 0.844 0.83 323 986 324 0.828 244 407 134 103 133 29899 chr7 102616469 102616469 G A rs2228687 NFE4 Nonsynonymous SNV R116Q 0.813 0.781 0.782 319 955 300 0.818 230 391 119 91 131 1.168 29900 chr7 102668001 102668001 A C rs7805950 FBXL13 Nonsynonymous SNV I74M 1 1 0.98 386 1174 384 0.99 288 587 192 143 191 0.002 29901 chr18 61564394 61564394 A G rs6098 SERPINB2 Nonsynonymous SNV N120D 0.263 0.305 0.221 91 309 117 0.233 65 47 14 8 13 7.993 29902 chr18 74580780 74580780 C T rs2276211 ZNF236 Nonsynonymous SNV S168L 0.026 0.026 0.024 11 31 10 0.028 7 0 0 0 1 18.76 29903 chr7 75610912 75610912 G A rs782746344 POR Nonsynonymous SNV G240D 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Uncertain significance 22.4 29904 chr18 8379296 8379296 C T rs57391962 PTPRM Synonymous SNV I1235I 0.06 0.036 0.054 27 70 14 0.069 16 2 0 0 0 19.29 29905 chr7 102743893 102743893 C T rs3181009 NAPEPLD Nonsynonymous SNV D389N 0.997 0.997 0.759 385 1170 383 0.987 223 584 191 110 190 13.76 29906 chr18 61570470 61570470 T G rs6102 SERPINB2 Synonymous SNV P393P 0.242 0.279 0.187 80 284 107 0.205 55 41 11 7 10 2.147 29907 chr18 74587458 74587458 G A rs2276210 ZNF236 Synonymous SNV P226P 0.026 0.026 0.024 11 31 10 0.028 7 0 0 0 1 1.101 29908 chr1 11854476 11854476 T G rs1801131 MTHFR Nonsynonymous SNV E470A 0.279 0.326 0.323 131 328 125 0.336 95 46 22 15 17 Conflicting interpretations of pathogenicity, other 19.89 29909 chr7 103007949 103007949 A C rs4520097 PSMC2 Synonymous SNV R312R 1 1 0.997 386 1174 384 0.99 293 587 192 146 191 3.649 29910 chr18 61570503 61570503 C G rs6103 SERPINB2 Nonsynonymous SNV N404K 0.263 0.305 0.221 91 309 117 0.233 65 47 14 8 13 0.004 29911 chr7 103124207 103124207 T C rs1062831 RELN Synonymous SNV A3358A 0.118 0.107 0.122 35 138 41 0.09 36 10 2 1 2 Benign 0.014 29912 chr18 8783835 8783835 T C rs35739383 MTCL1 Nonsynonymous SNV M242T 0.576 0.594 0.582 225 676 228 0.577 171 196 69 51 65 12.18 29913 chr18 61570529 61570529 C G rs6104 SERPINB2 Nonsynonymous SNV S413C 0.261 0.302 0.221 90 306 116 0.231 65 47 14 8 13 0.008 29914 chr7 103155705 103155705 A G rs2229864 RELN Synonymous SNV H2682H 0.394 0.344 0.425 130 462 132 0.333 125 85 25 31 18 Benign 5.658 29915 chr18 74627613 74627613 G A rs34208338 ZNF236 Synonymous SNV A1024A 0.026 0.023 0.024 11 31 9 0.028 7 0 0 0 1 9.968 29916 chr18 8784370 8784370 A G rs918272 MTCL1 Synonymous SNV E420E 0.959 0.966 0.932 372 1126 371 0.954 274 540 179 133 177 0.002 29917 chr1 11900385 11900385 C T rs198411 NPPA-AS1 0.106 0.151 0.136 56 125 58 0.144 40 6 1 2 3 14.03 29918 chr18 74659494 74659494 G A rs9961872 ZNF236 Synonymous SNV A1600A 0.028 0.023 0.027 11 33 9 0.028 8 0 0 0 1 8.849 29919 chr7 105177041 105177041 A T rs11556986 RINT1 Nonsynonymous SNV E7D 0.172 0.169 0.167 59 202 65 0.151 49 21 6 2 6 Benign 3.052 29920 chr1 11906068 11906068 A G rs5065 NPPA X152R 0.109 0.156 0.143 58 128 60 0.149 42 6 1 2 3 Benign 13.82 29921 chr18 61582751 61582751 T G rs17072097 SERPINB10 Nonsynonymous SNV S3A 0.218 0.237 0.184 69 256 91 0.177 54 36 11 7 9 0.001 29922 chr18 8784612 8784612 A G rs1965665 MTCL1 Nonsynonymous SNV Q501R 0.362 0.344 0.357 143 425 132 0.367 105 76 22 18 28 0.001 29923 chr1 119683063 119683063 G A rs3934789 WARS2-AS1 0.103 0.174 0.248 29 121 67 0.074 73 31 24 6 4 9.367 29924 chr1 119683390 119683390 G A rs12096448 WARS2-AS1 0.212 0.268 0.194 67 249 103 0.172 57 39 27 6 7 4.398 29925 chr7 105903904 105903904 T C rs2302559 NAMPT Synonymous SNV S301S 0.67 0.695 0.687 262 787 267 0.672 202 265 94 69 90 0.426 29926 chr18 8786031 8786031 G A rs202096044 MTCL1 Nonsynonymous SNV R610H 0.021 0.018 0.003 14 25 7 0.036 1 0 0 0 1 20.2 29927 chr18 61582867 61582867 A G rs8097425 SERPINB10 Nonsynonymous SNV I41M 0.253 0.271 0.221 84 297 104 0.215 65 41 14 8 11 0.138 29928 chr18 56246818 56246818 G A rs79863383 ALPK2 Nonsynonymous SNV T397I 0.022 0.013 0.034 13 26 5 0.033 10 0 0 0 0 24.1 29929 chr7 106508978 106508978 A G rs849389 PIK3CG Synonymous SNV P324P 0.911 0.93 0.918 359 1070 357 0.921 270 490 165 124 164 0.002 29930 chr1 120057158 120057158 C T rs6203 HSD3B1 Synonymous SNV L338L 0.402 0.375 0.364 167 472 144 0.428 107 84 28 9 35 6.649 29931 chr18 61585260 61585260 T C rs724558 SERPINB10 Nonsynonymous SNV I99T 0.225 0.25 0.18 73 264 96 0.187 53 34 10 7 9 24.8 29932 chr7 75896741 75896741 C T rs146131423 SRRM3 Synonymous SNV H332H 0.008 0.018 0.017 5 9 7 0.013 5 0 0 0 0 14.27 29933 chr7 106508987 106508987 T C rs849390 PIK3CG Synonymous SNV D327D 0.917 0.938 0.918 359 1076 360 0.921 270 494 168 124 164 0.002 29934 chr7 106513011 106513011 C T rs1129293 PIK3CG Synonymous SNV S675S 0.256 0.258 0.224 108 300 99 0.277 66 24 13 8 14 16.43 29935 chr18 61587067 61587067 C T rs9967382 SERPINB10 Nonsynonymous SNV P140S 0.256 0.289 0.221 85 301 111 0.218 65 42 14 8 11 12.68 29936 chr7 106685448 106685448 G T rs75385144 PRKAR2B Synonymous SNV A32A 0.371 0.349 0.425 161 435 134 0.413 125 86 27 25 29 15.65 29937 chr7 76029695 76029695 C T rs4728712 SSC4D Nonsynonymous SNV R128H 0.192 0.232 0.231 84 225 89 0.215 68 18 13 4 6 22 29938 chr7 107384455 107384455 A G rs756871 LOC101927974 0.514 0.57 0.354 243 603 219 0.623 104 276 102 51 104 6.611 29939 chr18 61600384 61600384 C T rs963075 SERPINB10 Nonsynonymous SNV R246C 0.302 0.323 0.248 101 354 124 0.259 73 59 20 10 14 22.5 29940 chr7 107414419 107414419 A G rs41669 SLC26A3 Synonymous SNV L651L 0.99 0.977 0.993 385 1162 375 0.987 292 575 183 145 190 Benign 7.956 29941 chr18 9117867 9117867 T C rs906807 NDUFV2 Nonsynonymous SNV V29A 0.856 0.854 0.711 319 1005 328 0.818 209 438 140 95 127 Benign 9.708 29942 chr7 107569517 107569517 A G rs1131398 LAMB1 Synonymous SNV L1627L 0.396 0.357 0.398 149 465 137 0.382 117 95 26 22 30 Benign 11.19 29943 chr7 76871086 76871086 G A rs74783981 CCDC146 Synonymous SNV L106L 0.087 0.063 0.054 26 102 24 0.067 16 7 2 0 0 11.81 29944 chr18 76753885 76753885 G C SALL3 Nonsynonymous SNV G632R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.21 29945 chr7 107591762 107591762 C G rs139955747 LAMB1 Synonymous SNV T1100T 0.009 0.01 0.01 1 10 4 0.003 3 0 0 0 0 Benign 15.37 29946 chr18 9255982 9255982 A G rs4798791 ANKRD12 Nonsynonymous SNV K883R 0.613 0.643 0.119 250 720 247 0.641 35 238 84 15 76 22.9 29947 chr7 76885769 76885769 A G rs3108428 CCDC146 Synonymous SNV Q209Q 0.694 0.63 0.639 257 815 242 0.659 188 277 78 59 86 0.016 29948 chr7 107593989 107593989 T C rs20556 LAMB1 Nonsynonymous SNV Q1022R 0.592 0.581 0.616 230 695 223 0.59 181 208 67 53 72 Benign 0.783 29949 chr18 19154339 19154339 T C rs146249536 ESCO1 Nonsynonymous SNV K156E 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 10.2 29950 chr18 61650865 61650865 G A rs11537989 SERPINB8 Synonymous SNV L159L 0.246 0.286 0.241 92 289 110 0.236 71 32 15 5 12 8.169 29951 chr18 9886734 9886734 C T rs144698163 TXNDC2 Synonymous SNV G86G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 11.8 29952 chr18 76829525 76829525 A G rs4078115 ATP9B Nonsynonymous SNV S39G 0.21 0.258 0.15 74 247 99 0.19 44 43 20 9 8 6.841 29953 chr18 56897668 56897671 GAAG - rs149962068 GRP R134Tfs*4 0.052 0.039 0.078 24 61 15 0.062 23 1 0 1 2 29954 chr18 9886890 9886890 A G rs601874 TXNDC2 Synonymous SNV S138S 0.311 0.292 0.32 114 365 112 0.292 94 51 16 15 20 0.658 29955 chr18 29122799 29122799 G A rs2278792 DSG2 Nonsynonymous SNV R773K 0.193 0.177 0.224 73 227 68 0.187 66 28 7 10 1 Benign 17.19 29956 chr18 19244135 19244135 A - rs765214305 ABHD3 H204Qfs*24 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29957 chr7 107599806 107599806 C T rs35710474 LAMB1 Nonsynonymous SNV G860S 0.08 0.078 0.058 20 94 30 0.051 17 4 1 1 0 Benign 35 29958 chr18 9887167 9887167 C G rs72947591 TXNDC2 Nonsynonymous SNV P231A 0.06 0.073 0.058 25 70 28 0.064 17 3 1 1 3 0.002 29959 chr7 107692681 107692681 A G rs149493645 LAMB4 Synonymous SNV N1259N 0.016 0.021 0.01 8 19 8 0.021 3 0 1 0 0 Benign 7.678 29960 chr7 77247821 77247821 G A rs9640663 PTPN12 Nonsynonymous SNV V192I 0.609 0.578 0.582 243 715 222 0.623 171 212 65 56 76 15.18 29961 chr18 9887205 9887205 A G rs62078800 TXNDC2 Synonymous SNV P243P 0.06 0.073 0.058 25 70 28 0.064 17 3 1 1 3 0.56 29962 chr18 77170477 77170477 C A rs1051978 NFATC1 Nonsynonymous SNV P68T 0.031 0.029 0.048 13 36 11 0.033 14 1 1 1 0 11.61 29963 chr7 107738882 107738882 G A rs1735499 LAMB4 Synonymous SNV Y442Y 0.308 0.336 0.32 126 362 129 0.323 94 56 24 15 23 2.82 29964 chr18 9887389 9887433 GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA - rs781380178 TXNDC2 P318_S332del 0.313 0.305 0.33 113 368 117 0.29 97 53 19 17 20 29965 chr19 1000568 1000568 C A rs112236900 GRIN3B Synonymous SNV P44P 0.105 0.109 0.078 47 123 42 0.121 23 45 16 10 18 20.2 29966 chr7 77265140 77265140 G A rs2230602 PTPN12 Nonsynonymous SNV E576K 0.074 0.076 0.031 33 87 29 0.085 9 6 0 0 2 19.67 29967 chr7 107738948 107738948 G A rs451252 LAMB4 Synonymous SNV A420A 0.309 0.336 0.32 126 363 129 0.323 94 56 24 15 23 12.53 29968 chr18 77170479 77170479 G A rs138101748 NFATC1 Synonymous SNV P68P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 7.418 29969 chr19 1000785 1000785 C T rs12986002 GRIN3B Nonsynonymous SNV H117Y 0.28 0.255 0.034 127 329 98 0.326 10 105 29 5 37 19.19 29970 chr7 107743664 107743664 A G rs402113 LAMB4 Synonymous SNV N335N 0.309 0.336 0.32 126 363 129 0.323 94 57 24 15 23 0.326 29971 chr18 29487567 29487567 C A rs34176695 TRAPPC8 Synonymous SNV P415P 0.036 0.016 0.051 10 42 6 0.026 15 1 0 0 0 14.82 29972 chr7 107824889 107824889 C G rs401433 NRCAM Synonymous SNV A700A 0.682 0.672 0.673 278 801 258 0.713 198 276 84 66 105 7.672 29973 chr19 1000799 1000799 G C rs2301813 GRIN3B Synonymous SNV A121A 0.528 0.513 0.088 232 620 197 0.595 26 263 84 13 94 9.881 29974 chr7 107834613 107834613 G C rs6958498 NRCAM Nonsynonymous SNV P520A 0.729 0.724 0.741 312 856 278 0.8 218 313 100 81 128 16.3 29975 chr19 1004710 1004710 C T rs4807399 GRIN3B Nonsynonymous SNV R404W 0.585 0.568 0.486 222 687 218 0.569 143 195 62 38 57 1.987 29976 chr18 77246444 77246444 C T rs7233684 NFATC1 Synonymous SNV G291G 0.036 0.039 0.034 20 42 15 0.051 10 0 0 0 1 7.399 29977 chr7 107834734 107834734 C T rs404287 NRCAM Synonymous SNV A509A 0.729 0.724 0.741 312 856 278 0.8 218 313 100 81 128 18.37 29978 chr19 1004724 1004724 A G rs11880849 GRIN3B Synonymous SNV P408P 0.394 0.38 0.357 156 462 146 0.4 105 86 28 22 30 0.002 29979 chr7 107838464 107838464 G T rs381318 NRCAM Synonymous SNV V404V 0.653 0.664 0.66 281 767 255 0.721 194 252 85 62 102 8.198 29980 chr7 107849908 107849908 G A rs1269621 NRCAM Synonymous SNV N319N 0.531 0.539 0.554 234 623 207 0.6 163 167 49 45 72 10.87 29981 chr18 77475455 77475455 G A rs11549119 CTDP1 Synonymous SNV A546A 0.055 0.049 0.041 13 65 19 0.033 12 3 3 0 0 Benign 7.963 29982 chr7 108212353 108212353 G A rs1043615 DNAJB9 Synonymous SNV P61P 0.459 0.458 0.486 210 539 176 0.538 143 132 35 31 54 12.66 29983 chr19 1004823 1004823 G A rs4806908 GRIN3B Synonymous SNV A441A 0.367 0.354 0.306 143 431 136 0.367 90 75 28 20 23 1.539 29984 chr1 12835168 12835168 C A rs17346571 PRAMEF12 Nonsynonymous SNV T53K 0.043 0.047 0.071 13 51 18 0.033 21 3 2 1 0 0.002 29985 chr18 77478011 77478011 C T rs35456241 CTDP1 Synonymous SNV S685S 0.054 0.044 0.041 13 63 17 0.033 12 3 3 0 0 Benign 11.11 29986 chr7 110762899 110762899 A G rs9942557 LRRN3 Nonsynonymous SNV D24G 0.082 0.065 0.088 31 96 25 0.079 26 4 1 2 2 11.72 29987 chr19 1004844 1004844 T C rs4806909 GRIN3B Synonymous SNV P448P 0.379 0.367 0.34 149 445 141 0.382 100 79 28 23 25 0.002 29988 chr18 66513615 66513615 A G rs2187094 CCDC102B Nonsynonymous SNV K298R 0.181 0.216 0.483 93 212 83 0.238 142 69 25 35 31 14.66 29989 chr1 12837371 12837371 G A rs200049428 PRAMEF12 Nonsynonymous SNV V361M 0.001 0.003 0.054 0 1 1 0 16 0 0 0 0 0.013 29990 chr19 1004896 1004896 - CGTT rs10666583 GRIN3B Frameshift insertion G466Afs*18 0.325 0.318 0.276 129 381 122 0.331 81 59 23 16 22 29991 chr7 112724417 112724417 A G rs2256044 GPR85 Synonymous SNV Y120Y 0.84 0.831 0.844 316 986 319 0.81 248 407 131 105 129 0.002 29992 chr19 1005230 1005230 C T rs2240158 GRIN3B Nonsynonymous SNV T577M 0.379 0.367 0.34 149 445 141 0.382 100 79 28 23 25 11.9 29993 chr18 30260163 30260163 G A KLHL14 Synonymous SNV R519R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.634 29994 chr1 12837372 12837372 T A rs201822254 PRAMEF12 Nonsynonymous SNV V361E 0.001 0.003 0.051 0 1 1 0 15 0 0 0 0 0.004 29995 chr7 112724525 112724525 A G rs1608890 GPR85 Synonymous SNV G84G 0.84 0.831 0.844 315 986 319 0.808 248 407 131 105 128 0.157 29996 chr7 80387766 80387766 C T rs1058425 SEMA3C Synonymous SNV Q526Q 0.228 0.26 0.224 90 268 100 0.231 66 32 14 8 14 10.54 29997 chr7 113518502 113518502 A T rs2974938 PPP1R3A Nonsynonymous SNV L882H 0.991 0.992 0.99 386 1163 381 0.99 291 576 189 144 191 0.002 29998 chr19 1005531 1005531 G C rs12973948 GRIN3B Synonymous SNV L677L 0.366 0.349 0.337 149 430 134 0.382 99 73 27 23 25 0.016 29999 chr18 60241477 60241477 G A rs186277879 ZCCHC2 Synonymous SNV T721T 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 10.71 30000 chr7 81667468 81667468 C T rs2229952 CACNA2D1 Synonymous SNV A321A 0.057 0.044 0.02 21 67 17 0.054 6 2 0 0 0 Benign 18.3 30001 chr1 12837376 12837376 T C rs202096976 PRAMEF12 Synonymous SNV D362D 0.001 0.003 0.048 1 1 1 0.003 14 0 0 0 0 0.003 30002 chr1 12837471 12837471 A G rs79193271 PRAMEF12 Nonsynonymous SNV E394G 0.009 0.005 0.065 4 11 2 0.01 19 0 0 0 0 14.84 30003 chr7 113519719 113519719 A T rs2974944 PPP1R3A Nonsynonymous SNV N476K 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.002 30004 chr1 12837475 12837475 C G rs78132363 PRAMEF12 Nonsynonymous SNV N395K 0.009 0.005 0.065 3 11 2 0.008 19 0 0 0 0 1.27 30005 chr19 1009365 1009365 T A rs10417824 GRIN3B Nonsynonymous SNV Y966N 0.379 0.383 0.173 154 445 147 0.395 51 135 46 17 53 0.72 30006 chr7 82544987 82544987 A G rs17156844 PCLO Synonymous SNV H4105H 0.235 0.211 0.293 70 276 81 0.179 86 31 11 17 6 0.235 30007 chr7 113519796 113519796 C T rs2974942 PPP1R3A Nonsynonymous SNV V451M 0.994 0.995 0.993 388 1167 382 0.995 292 580 190 145 193 3.389 30008 chr1 12837564 12837564 G T rs200704680 PRAMEF12 Nonsynonymous SNV C425F 0 0.003 0.054 0 0 1 0 16 0 0 0 0 0.217 30009 chr19 1009485 1009485 C G rs10401245 GRIN3B Nonsynonymous SNV Q1006E 0.647 0.607 0.408 248 760 233 0.636 120 233 70 38 87 0.003 30010 chr7 82581859 82581859 C T rs976714 PCLO Nonsynonymous SNV A2804T 0.323 0.341 0.422 109 379 131 0.279 124 59 21 27 17 0.76 30011 chr7 114563080 114563080 G A MDFIC Nonsynonymous SNV E107K 0 0 0 0 0 0 0 0 0 0 0 0 12.86 30012 chr1 12837652 12837652 C T rs200113689 PRAMEF12 Synonymous SNV V454V 0.04 0.039 0.068 13 47 15 0.033 20 0 0 0 0 10.28 30013 chr7 114619598 114619598 C A rs2594449 MDFIC Synonymous SNV A85A 0.998 0.987 0.993 389 1172 379 0.997 292 586 188 145 194 13.32 30014 chr19 1009551 1009577 GCCCCCGCGGAGGCCCCACCACACTCT - rs142516571 GRIN3B A1028_S1036del 0.234 0.24 0.167 85 275 92 0.218 49 27 12 6 14 30015 chr1 12837664 12837664 C T rs201781857 PRAMEF12 Synonymous SNV R458R 0.041 0.042 0.065 13 48 16 0.033 19 0 0 0 0 10.38 30016 chr18 3086065 3086065 C T rs3765623 MYOM1 Nonsynonymous SNV D1312N 0.043 0.039 0.051 19 51 15 0.049 15 0 1 1 1 Benign 27.7 30017 chr7 82582846 82582846 C T rs10954696 PCLO Nonsynonymous SNV V2475I 0.323 0.341 0.422 109 379 131 0.279 124 59 21 27 17 3.049 30018 chr7 115624396 115624396 C T rs140366806 TFEC Nonsynonymous SNV D34N 0.015 0.021 0.02 1 18 8 0.003 6 0 0 0 0 3.606 30019 chr1 12837669 12837669 G T rs201008398 PRAMEF12 Nonsynonymous SNV G460V 0.041 0.042 0.061 13 48 16 0.033 18 0 0 0 0 16.16 30020 chr18 10857154 10857154 T C rs753368785 PIEZO2 Nonsynonymous SNV N183S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.34 30021 chr18 30950014 30950014 C T rs147462915 CCDC178 Synonymous SNV R116R 0.022 0.005 0.007 3 26 2 0.008 2 0 0 0 0 3.152 30022 chr1 12837705 12837705 - CC rs199736234 PRAMEF12 Frameshift insertion L474Cfs*2 0.041 0.042 0.061 13 48 16 0.033 18 0 0 0 0 30023 chr7 116146074 116146074 C G rs8940 CAV2 Nonsynonymous SNV Q47E 0.234 0.253 0.265 99 275 97 0.254 78 35 9 10 14 24.5 30024 chr1 12837720 12837720 G A rs201425552 PRAMEF12 Nonsynonymous SNV C477Y 0.04 0.042 0.061 13 47 16 0.033 18 0 0 0 0 19.63 30025 chr7 116411923 116411923 C T rs34589476 MET Nonsynonymous SNV R540C 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 30026 chr19 10116632 10116632 G A rs73007128 COL5A3 Synonymous SNV L93L 0.02 0.021 0.024 7 23 8 0.018 7 0 0 0 0 1.516 30027 chr1 12837728 12837728 G A rs77317880 PRAMEF12 Nonsynonymous SNV G480S 0.04 0.042 0.061 13 47 16 0.033 18 0 0 0 0 10.25 30028 chr7 82785099 82785099 T G rs61741653 PCLO Synonymous SNV A286A 0.051 0.068 0.024 28 60 26 0.072 7 1 1 0 0 5.172 30029 chr7 117188736 117188736 C A rs4727853 CFTR Nonsynonymous SNV N417K 0.279 0.281 0.048 79 327 108 0.203 14 0 0 0 0 Conflicting interpretations of pathogenicity 0.204 30030 chr19 10204143 10204143 G A rs76783850 ANGPTL6 Synonymous SNV P368P 0.024 0.016 0.01 11 28 6 0.028 3 0 0 0 0 Benign 10.46 30031 chr19 10224526 10224526 C T rs3745600 P2RY11, PPAN-P2RY11 Nonsynonymous SNV P520L 0.47 0.482 0.452 164 552 185 0.421 133 131 46 25 32 15.33 30032 chr7 117199533 117199533 G A rs213950 CFTR Nonsynonymous SNV V470M 0.301 0.31 0.35 110 353 119 0.282 103 52 15 16 16 Benign/Likely benign 13.09 30033 chr18 9119489 9119489 A T rs41274300 NDUFV2 Synonymous SNV V67V 0.129 0.141 0.126 46 151 54 0.118 37 9 4 4 2 Benign 13.7 30034 chr18 6975995 6975995 G C rs117225191 LAMA1 Nonsynonymous SNV L2144V 0.042 0.034 0.01 16 49 13 0.041 3 1 0 0 0 22.2 30035 chr18 68297851 68297851 C T rs79493183 GTSCR1 0.039 0.044 0.044 14 46 17 0.036 13 2 0 0 0 0.026 30036 chr7 117235055 117235055 T G rs1042077 CFTR Synonymous SNV T854T 0.213 0.211 0.259 65 250 81 0.167 76 26 8 10 6 Benign/Likely benign 1.414 30037 chr7 83634713 83634713 A G rs7804122 SEMA3A Synonymous SNV I434I 0.301 0.302 0.265 130 353 116 0.333 78 46 18 11 25 5.119 30038 chr1 14105139 14105139 T A rs2076324 PRDM2 Nonsynonymous SNV D82E 0.27 0.286 0.31 111 317 110 0.285 91 47 19 17 12 0.001 30039 chr18 9570649 9570649 T G rs193261380 PPP4R1 Nonsynonymous SNV Q360P 0.014 0.016 0 0 16 6 0 0 0 0 0 0 11.38 30040 chr7 84628989 84628989 T G rs7800072 SEMA3D Nonsynonymous SNV K701Q 0.325 0.318 0.313 123 382 122 0.315 92 55 19 17 13 10.15 30041 chr7 117282644 117282644 A G rs1800130 CFTR Synonymous SNV P1290P 0.012 0.021 0.017 10 14 8 0.026 5 0 0 1 0 Benign/Likely benign 1.052 30042 chr7 117307108 117307108 G A rs1800136 CFTR Synonymous SNV Q1463Q 0.179 0.193 0.235 59 210 74 0.151 69 21 9 10 8 Benign/Likely benign 1.035 30043 chr1 14105298 14105298 G A rs1203678 PRDM2 Synonymous SNV E135E 0.27 0.289 0.299 103 317 111 0.264 88 46 17 13 12 0.005 30044 chr7 84644500 84644500 C T rs17559084 SEMA3D Synonymous SNV L526L 0.319 0.307 0.316 118 374 118 0.303 93 49 17 16 11 10.65 30045 chr1 14106394 14106394 - CTC rs2308040 PRDM2 P502_A503insP 0.319 0.336 0.371 131 374 129 0.336 109 61 22 21 17 30046 chr7 120428799 120428799 C A rs41623 TSPAN12 Synonymous SNV P255P 0.872 0.859 0.857 326 1024 330 0.836 252 446 140 105 137 Benign 13.1 30047 chr19 1036444 1036444 G A rs930231 CNN2 Synonymous SNV S140S 0.286 0.333 0.313 123 336 128 0.315 92 42 21 10 19 16.16 30048 chr1 14109114 14109114 A G rs1203651 PRDM2 Synonymous SNV S1407S 0.282 0.299 0.323 114 331 115 0.292 95 48 20 17 12 0.002 30049 chr18 6993673 6993673 T C rs62081533 LAMA1 Nonsynonymous SNV I1659V 0.21 0.273 0.245 87 247 105 0.223 72 26 11 9 7 0.006 30050 chr7 120740103 120740103 G T rs798937 CPED1 Synonymous SNV T291T 0.831 0.839 0.813 324 976 322 0.831 239 400 134 99 136 11.48 30051 chr7 87082292 87082292 G A rs1202283 ABCB4 Synonymous SNV N168N 0.526 0.508 0.493 224 618 195 0.574 145 169 47 36 62 Benign 10.7 30052 chr19 1037731 1037731 C T rs75808449 CNN2 Synonymous SNV G215G 0.207 0.229 0.116 83 243 88 0.213 34 0 0 0 0 18.27 30053 chr7 120764477 120764477 G C rs1524498 CPED1 Synonymous SNV A337A 0.434 0.497 0.469 178 509 191 0.456 138 112 55 39 39 13.5 30054 chr18 6977844 6977844 A G rs671871 LAMA1 Nonsynonymous SNV I2076T 0.216 0.18 0.187 60 254 69 0.154 55 25 4 3 8 14.48 30055 chr19 1037781 1037781 C A rs75676484 CNN2 Nonsynonymous SNV P232H 0.262 0.289 0.184 103 308 111 0.264 54 0 0 0 0 32 30056 chr7 120776097 120776097 C G rs41281692 CPED1 Nonsynonymous SNV A551G 0.271 0.331 0.374 110 318 127 0.282 110 98 48 38 33 1.623 30057 chr19 1037791 1037791 C T rs75577125 CNN2 Synonymous SNV C235C 0.267 0.289 0.184 107 313 111 0.274 54 0 0 0 0 13 30058 chr18 6999628 6999628 T C rs625106 LAMA1 Synonymous SNV S1493S 0.495 0.466 0.514 202 581 179 0.518 151 150 36 39 46 0.2 30059 chr7 120901695 120901695 G A rs10953934 CPED1 Nonsynonymous SNV D774N 0.475 0.448 0.425 188 558 172 0.482 125 127 47 28 38 3.331 30060 chr18 61471529 61471529 C T rs61735186 SERPINB7 Nonsynonymous SNV T251I 0.036 0.057 0.041 11 42 22 0.028 12 1 0 0 2 12.74 30061 chr19 1037871 1037871 C A rs78251590 CNN2 Nonsynonymous SNV P262H 0.107 0.094 0.078 48 126 36 0.123 23 0 0 0 0 20.2 30062 chr18 6999963 6999963 G A rs12970643 LAMA1 Synonymous SNV H1472H 0.145 0.13 0.116 69 170 50 0.177 34 8 4 3 2 3.373 30063 chr7 120969769 120969769 G A rs2908004 WNT16 Nonsynonymous SNV G72R 0.442 0.427 0.439 171 519 164 0.438 129 116 35 24 35 20.8 30064 chr18 7008591 7008591 T C rs662471 LAMA1 Nonsynonymous SNV M1340V 0.307 0.284 0.316 126 360 109 0.323 93 60 20 19 20 9.358 30065 chr18 7008583 7008583 A C rs73938538 LAMA1 Synonymous SNV V1342V 0.095 0.094 0.099 32 111 36 0.082 29 6 2 2 0 4.88 30066 chr18 61602360 61602360 G A rs35453062 SERPINB10 Nonsynonymous SNV D360N 0.049 0.049 0.041 15 58 19 0.038 12 2 0 0 1 0.002 30067 chr7 120979089 120979089 C T rs2707466 WNT16 Nonsynonymous SNV T253I 0.438 0.427 0.442 172 514 164 0.441 130 114 35 25 35 16.85 30068 chr18 7011338 7011338 C T rs12969598 LAMA1 Synonymous SNV P1216P 0.079 0.068 0.041 40 93 26 0.103 12 3 1 0 1 18.11 30069 chr18 28720147 28720147 C T rs17800159 DSC1 Nonsynonymous SNV V460I 0.152 0.203 0.201 46 178 78 0.118 59 9 6 5 3 25 30070 chr19 10402430 10402430 G T rs115870389 ICAM5 Synonymous SNV P206P 0.044 0.036 0.044 9 52 14 0.023 13 2 0 1 0 4.669 30071 chr18 7011413 7011413 G A rs619106 LAMA1 Synonymous SNV T1191T 0.348 0.31 0.337 148 409 119 0.379 99 76 15 18 25 13.55 30072 chr19 10406104 10406104 G A rs35318566 ICAM5 Synonymous SNV A771A 0.044 0.036 0.044 10 52 14 0.026 13 2 0 1 0 16 30073 chr7 121513561 121513561 T G rs740965 PTPRZ1 Nonsynonymous SNV I3S 0.146 0.164 0.133 81 171 63 0.208 39 10 7 5 6 16.3 30074 chr18 7012123 7012123 A G rs9946794 LAMA1 Synonymous SNV G1126G 0.443 0.398 0.398 186 520 153 0.477 117 115 29 22 41 5.567 30075 chr7 88964510 88964510 T C rs62469518 ZNF804B Synonymous SNV N738N 0.106 0.094 0.078 40 124 36 0.103 23 12 5 0 4 0.002 30076 chr7 121616250 121616250 G A rs4629793 PTPRZ1 Synonymous SNV A160A 0.414 0.404 0.429 153 486 155 0.392 126 98 36 30 23 8.831 30077 chr18 7017321 7017321 C T rs371371596 LAMA1 Nonsynonymous SNV D922N 0.009 0 0 2 11 0 0.005 0 0 0 0 0 11.65 30078 chr7 88965021 88965021 G A rs10487075 ZNF804B Nonsynonymous SNV E909K 0.126 0.135 0.112 54 148 52 0.138 33 7 5 3 3 9.976 30079 chr7 121653692 121653692 T G rs202141325 PTPRZ1 Nonsynonymous SNV L1531R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 30080 chr19 10426422 10426422 A C rs378395 FDX2 Synonymous SNV A56A 0.466 0.438 0.446 183 547 168 0.469 131 143 44 26 43 Benign 0.048 30081 chr7 122078414 122078414 T G rs2074589 CADPS2 Synonymous SNV T816T 0.359 0.362 0.33 130 421 139 0.333 97 79 20 17 21 8.373 30082 chr19 10426628 10426628 T C rs395782 FDX2 Synonymous SNV L18L 0.465 0.438 0.446 183 546 168 0.469 131 142 44 26 43 Benign 1.081 30083 chr18 33719409 33719409 G T rs74586912 ELP2 Nonsynonymous SNV R158L 0.029 0.026 0.034 17 34 10 0.044 10 1 0 0 1 6.952 30084 chr19 1042809 1042809 A G rs3764645 ABCA7 Nonsynonymous SNV E188G 0.445 0.479 0.497 198 523 184 0.508 146 112 42 37 50 8.312 30085 chr7 122303321 122303321 C T rs2251761 CADPS2 Synonymous SNV L252L 0.834 0.828 0.816 324 979 318 0.831 240 411 133 95 134 11.5 30086 chr7 122635024 122635024 C T rs860170 TAS2R16 Nonsynonymous SNV R222H 0.711 0.714 0.68 275 835 274 0.705 200 294 93 67 101 5.808 30087 chr19 10444166 10444166 G A rs35633871 RAVER1 Synonymous SNV S6S 0.055 0.081 0.071 28 65 31 0.072 21 2 1 1 0 19.89 30088 chr18 71985162 71985162 G T C18orf63 Nonsynonymous SNV C21F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25 30089 chr7 89856644 89856644 C T rs2016903 STEAP2 Synonymous SNV Y284Y 0.209 0.211 0.177 67 245 81 0.172 52 24 10 4 10 7.681 30090 chr1 144994620 144994620 C G rs782433948 PDE4DIP Nonsynonymous SNV E38Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 30091 chr7 123256427 123256427 C T rs6962756 ASB15 Nonsynonymous SNV P57L 0.754 0.742 0.738 295 885 285 0.756 217 337 109 80 112 18.09 30092 chr18 65181294 65181294 T C rs138194105 DSEL Synonymous SNV L184L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.024 30093 chr19 10469975 10469975 A C rs12720356 TYK2 Nonsynonymous SNV I684S 0.088 0.089 0.068 38 103 34 0.097 20 7 1 0 2 Benign 28.6 30094 chr18 28983529 28983529 C T rs34620697 DSG4 Nonsynonymous SNV P523L 0.03 0.029 0.041 7 35 11 0.018 12 1 0 0 0 Benign/Likely benign 31 30095 chr7 123264804 123264804 C T rs11769381 ASB15 Synonymous SNV V211V 0.469 0.458 0.466 185 551 176 0.474 137 136 45 35 41 10.18 30096 chr19 1047002 1047002 A G rs3752234 ABCA7 Synonymous SNV A608A 0.562 0.599 0.602 255 660 230 0.654 177 177 70 53 81 0.261 30097 chr7 123269118 123269118 G C rs4731112 ASB15 Nonsynonymous SNV G357A 0.686 0.664 0.69 263 805 255 0.674 203 275 89 70 86 9.146 30098 chr19 1047161 1047161 A G rs3752237 ABCA7 Synonymous SNV G617G 0.616 0.659 0.67 275 723 253 0.705 197 220 83 65 94 8.142 30099 chr7 123301940 123301940 A G rs7809453 LMOD2 Synonymous SNV E100E 0.454 0.445 0.33 185 533 171 0.474 97 142 47 32 43 9.022 30100 chr1 145039744 145039744 C A rs367568901 LOC100996724 0.002 0 0.058 0 2 0 0 17 0 0 0 0 14.44 30101 chr18 706570 706570 G T rs34724061 ENOSF1 Nonsynonymous SNV D31E 0.014 0.008 0.017 6 16 3 0.015 5 0 0 0 1 10.13 30102 chr7 123388732 123388732 G A rs1054706 WASL Synonymous SNV S19S 0.48 0.471 0.493 192 564 181 0.492 145 141 47 40 43 10.55 30103 chr18 67534642 67534642 C T rs72481820 CD226 Nonsynonymous SNV R124K 0.083 0.063 0.061 24 97 24 0.062 18 3 1 1 0 16.64 30104 chr19 1051214 1051214 A G rs3752240 ABCA7 Synonymous SNV V915V 0.36 0.385 0.357 158 423 148 0.405 105 70 22 15 33 0.056 30105 chr7 123599845 123599845 A T rs75168651 SPAM1 Nonsynonymous SNV D451V 0.016 0.008 0.031 5 19 3 0.013 9 0 0 0 0 3.006 30106 chr19 10556897 10556897 C T rs118115488 PDE4A Synonymous SNV F108F 0.064 0.073 0.085 34 75 28 0.087 25 8 1 0 0 13.4 30107 chr7 123672457 123672462 GCTGCT - rs566327350 TMEM229A Q199_Q200del 0.165 0.159 0.153 89 194 61 0.228 45 17 7 5 11 30108 chr7 124387092 124387092 C G rs3735270 GPR37 Synonymous SNV L443L 0.433 0.445 0.486 164 508 171 0.421 143 114 38 36 36 8.579 30109 chr7 124387374 124387374 A G rs724356 GPR37 Synonymous SNV T349T 0.745 0.737 0.759 293 875 283 0.751 223 328 101 90 114 0.002 30110 chr7 127222521 127222521 G A rs33973710 GCC1 Synonymous SNV G625G 0.158 0.177 0.167 66 185 68 0.169 49 13 3 5 9 0.712 30111 chr19 10610236 10610236 A G rs1048287 KEAP1 Synonymous SNV G158G 0.086 0.099 0.109 41 101 38 0.105 32 5 3 0 1 0.111 30112 chr1 146585825 146585825 G A rs4950371 NBPF13P 0 0 0.255 0 0 0 0 75 0 0 11 0 0.017 30113 chr18 72913920 72913920 C T rs61910717 ZADH2 Synonymous SNV K72K 0.07 0.076 0.092 30 82 29 0.077 27 0 0 1 2 11.62 30114 chr7 127250907 127250907 T C rs712700 PAX4 X349W 0.779 0.755 0.806 308 914 290 0.79 237 353 104 94 120 Benign 9.126 30115 chr18 34156478 34156478 T A rs773987315 FHOD3 Synonymous SNV I192I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.5 30116 chr19 1064193 1064193 G A rs4147930 ABCA7 Synonymous SNV L1995L 0.753 0.737 0.701 296 884 283 0.759 206 335 106 79 113 10.33 30117 chr18 34205551 34205551 C T rs60414347 FHOD3 Synonymous SNV S345S 0.071 0.047 0.085 21 83 18 0.054 25 5 0 1 0 18.89 30118 chr19 1008879 1008879 G C rs2285907 GRIN3B Synonymous SNV T885T 0.167 0.146 0.105 74 196 56 0.19 31 16 5 3 6 6.279 30119 chr18 21269704 21269704 G C rs61752345 LAMA3 Synonymous SNV T19T 0.008 0.005 0 6 9 2 0.015 0 0 0 0 0 12.19 30120 chr7 127251188 127251188 T G rs712701 PAX4 Nonsynonymous SNV H329P 0.785 0.76 0.81 312 922 292 0.8 238 358 106 95 123 Benign 0.008 30121 chr7 90894459 90894459 - CCG rs139480179 FZD1 P93_Q94insP 0.405 0.482 0.31 178 475 185 0.456 91 100 39 24 43 30122 chr7 127253898 127253898 G A rs77039439 PAX4 Synonymous SNV G158G 0.05 0.055 0.051 17 59 21 0.044 15 1 0 1 0 Benign/Likely benign 3.329 30123 chr7 127721507 127721507 T C rs322825 SND1 Synonymous SNV T688T 0.663 0.672 0.673 274 778 258 0.703 198 246 86 67 94 6.322 30124 chr19 10664632 10664632 A G rs3087689 KRI1 Nonsynonymous SNV S703P 0.238 0.221 0.221 81 279 85 0.208 65 35 10 8 4 25.9 30125 chr1 147096112 147096112 G A rs61751618 BCL9 Nonsynonymous SNV M1211I 0.012 0.013 0.014 5 14 5 0.013 4 0 0 0 0 17.84 30126 chr7 127953238 127953238 G A rs73230638 RBM28 Nonsynonymous SNV S571L 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Likely benign 17.48 30127 chr7 127991133 127991133 G A rs891215 PRRT4 Nonsynonymous SNV P826L 0.599 0.609 0.69 249 703 234 0.638 203 232 81 68 81 7.975 30128 chr1 147126437 147126437 G A rs140566115 ACP6 Nonsynonymous SNV R218W 0.012 0.013 0.02 6 14 5 0.015 6 0 0 0 0 Benign 24.8 30129 chr7 127992437 127992437 C G rs1651945 PRRT4 Synonymous SNV R391R 0.922 0.924 0.942 363 1082 355 0.931 277 501 164 131 169 10.76 30130 chr19 10106936 10106936 G C rs1559186 COL5A3 Synonymous SNV L475L 0.261 0.268 0.32 118 307 103 0.303 94 55 17 24 24 8.714 30131 chr18 74153560 74153560 G A rs9948381 ZNF516 Nonsynonymous SNV P484L 0.019 0.018 0.024 4 22 7 0.01 7 0 0 0 0 0.509 30132 chr7 128358891 128358891 C A rs745229 FAM71F1 Synonymous SNV L147L 0.217 0.24 0.228 88 255 92 0.226 67 30 16 8 14 17.61 30133 chr1 149915958 149915958 T C rs782732204 OTUD7B Nonsynonymous SNV N777S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 30134 chr7 128363287 128363287 G A rs6971091 FAM71F1 Nonsynonymous SNV E242K 0.212 0.232 0.228 86 249 89 0.221 67 29 15 8 13 26.6 30135 chr18 74155000 74155000 T C rs3752097 ZNF516 Nonsynonymous SNV N4S 0.06 0.068 0.051 22 70 26 0.056 15 4 1 1 2 0.001 30136 chr7 93055753 93055753 A G rs1801197 CALCR Nonsynonymous SNV L447P 0.307 0.292 0.265 111 360 112 0.285 78 58 23 12 15 risk factor 0.33 30137 chr1 150280621 150280621 T G rs144788909 MRPS21 Nonsynonymous SNV L75V 0.041 0.057 0.058 14 48 22 0.036 17 0 1 0 1 21.8 30138 chr7 128454762 128454762 G A rs61730244 CCDC136 Nonsynonymous SNV R945Q 0.023 0.021 0.007 5 27 8 0.013 2 2 0 0 0 35 30139 chr18 21747376 21747376 C A OSBPL1A Nonsynonymous SNV V305L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.227 30140 chr7 128455767 128455767 C G rs4728137 CCDC136 Nonsynonymous SNV Q1049E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 30141 chr7 94180691 94180691 T C rs10280457 CASD1 Synonymous SNV A345A 0.119 0.135 0.139 50 140 52 0.128 41 7 2 1 3 7.363 30142 chr18 76752263 76752263 C A rs35091814 SALL3 Nonsynonymous SNV P91H 0.084 0.063 0.041 29 99 24 0.074 12 4 0 0 3 13.29 30143 chr7 128455916 128455916 G A rs2270590 CCDC136 Synonymous SNV E1098E 0.168 0.135 0.126 56 197 52 0.144 37 21 6 2 5 4.568 30144 chr18 43481105 43481105 C T rs186784974 EPG5 Nonsynonymous SNV R1501Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 14.74 30145 chr18 22804549 22804549 G C rs34380309 ZNF521 Synonymous SNV P891P 0.019 0.029 0.01 7 22 11 0.018 3 2 0 0 0 6.632 30146 chr19 10116508 10116508 C T rs2303098 COL5A3 Nonsynonymous SNV R134H 0.143 0.159 0.211 66 168 61 0.169 62 9 6 9 6 12.02 30147 chr18 76753063 76753063 C T rs2472643 SALL3 Synonymous SNV L358L 0.081 0.06 0.027 25 95 23 0.064 8 4 0 0 2 10.5 30148 chr7 128480666 128480666 C T rs76046880 FLNC Synonymous SNV Y538Y 0.031 0.023 0.01 5 36 9 0.013 3 3 0 0 0 Benign 11.77 30149 chr1 150526406 150526406 C T rs6681639 ADAMTSL4 Synonymous SNV G313G 0.279 0.245 0.282 114 327 94 0.292 83 39 16 10 9 Benign 6.54 30150 chr7 128486091 128486091 C T rs34180031 FLNC Synonymous SNV L1280L 0.031 0.023 0.01 5 36 9 0.013 3 3 0 0 0 Benign 8.915 30151 chr19 10218524 10218524 C G rs2305791 PPAN, PPAN-P2RY11 Synonymous SNV V59V 0.327 0.299 0.286 103 384 115 0.264 84 62 20 13 9 9.66 30152 chr7 128486363 128486363 C T rs34373805 FLNC Synonymous SNV L1325L 0.181 0.146 0.099 67 212 56 0.172 29 21 7 5 6 Benign 9.818 30153 chr7 128487866 128487866 T C rs2249128 FLNC Synonymous SNV D1468D 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 Benign 3.055 30154 chr7 128491497 128491497 C T rs79790270 FLNC-AS1 0.031 0.023 0.01 5 36 9 0.013 3 3 0 0 0 Benign 11.12 30155 chr7 128506470 128506470 C T rs113752302 ATP6V1FNB Nonsynonymous SNV R3W 0.033 0.023 0.01 5 39 9 0.013 3 3 0 0 0 11.6 30156 chr18 76754871 76754871 G T rs2615613 SALL3 Synonymous SNV A960A 0.07 0.055 0.037 21 82 21 0.054 11 3 0 0 3 6.175 30157 chr19 10226414 10226414 G A rs188476640 EIF3G Synonymous SNV F262F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.73 30158 chr7 128550681 128550681 C - rs11335250 KCP 0.982 0.984 0.942 383 1153 378 0.982 277 576 189 138 191 30159 chr18 76829425 76829425 C T rs374611661 ATP9B Synonymous SNV I5I 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 10.14 30160 chr7 128587352 128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - rs199508964 IRF5 R175_L184del 0.503 0.542 0.514 186 590 208 0.477 151 149 58 39 38 30161 chr7 128607384 128607384 G A rs8043 TNPO3 Synonymous SNV A823A 0.508 0.544 0.514 192 596 209 0.492 151 148 58 39 40 Benign 17.66 30162 chr18 25532141 25532141 G T CDH2 Nonsynonymous SNV D868E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 30163 chr18 44157746 44157746 C A rs35088381 LOXHD1 Nonsynonymous SNV G632C 0.024 0.021 0.01 7 28 8 0.018 3 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 30164 chr7 128641226 128641226 G C rs2305324 TNPO3 Synonymous SNV L253L 0.474 0.497 0.469 170 556 191 0.436 138 130 49 31 35 Benign 10.53 30165 chr1 150917624 150917624 G T rs186820437 SETDB1 Nonsynonymous SNV G394W 0.048 0.057 0.068 13 56 22 0.033 20 1 1 1 1 0.029 30166 chr7 95025600 95025600 G A rs13226149 PON3 Synonymous SNV F21F 0.261 0.268 0.245 82 306 103 0.21 72 45 14 7 7 5.323 30167 chr7 128766771 128766785 AAGACGATGACTTCG - rs759583159 LOC407835 0.141 0.148 0.136 46 165 57 0.118 40 11 3 2 3 30168 chr7 95034775 95034775 G C rs7493 PON2 Nonsynonymous SNV S311C 0.243 0.25 0.238 75 285 96 0.192 70 41 11 8 6 Benign 21.8 30169 chr18 44157764 44157764 C A rs34589386 LOXHD1 Nonsynonymous SNV G626C 0.024 0.021 0.01 7 28 8 0.018 3 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 30170 chr7 128766790 128766790 G A rs781107052 LOC407835 0.141 0.148 0.136 46 165 57 0.118 40 11 3 2 3 9.546 30171 chr19 11172480 11172480 C T rs139335250 SMARCA4 Synonymous SNV S1614S 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Likely benign 20.1 30172 chr7 128766794 128766794 T C rs746112504 LOC407835 0.141 0.148 0.136 46 165 57 0.118 40 11 3 2 3 8.111 30173 chr18 44236995 44236995 A T rs36024592 LOXHD1 Star tloss M2del 0.042 0.031 0.034 10 49 12 0.026 10 1 1 0 0 Benign/Likely benign 20.2 30174 chr7 128766796 128766798 AGA - rs780606902 LOC407835 0.141 0.148 0.136 46 165 57 0.118 40 11 3 2 3 30175 chr7 95041016 95041016 G C rs12026 PON2 Nonsynonymous SNV A148G 0.227 0.234 0.228 71 266 90 0.182 67 41 11 8 6 Benign 4.702 30176 chr7 128766801 128766804 TGGA - rs746353225 LOC407835 0.141 0.148 0.136 46 165 57 0.118 40 11 3 2 3 30177 chr7 128846207 128846207 G A rs35678076 SMO Synonymous SNV A379A 0.012 0.008 0.01 5 14 3 0.013 3 0 0 0 0 13.26 30178 chr7 128846328 128846328 G C rs2228617 SMO Synonymous SNV G388G 0.875 0.865 0.871 359 1027 332 0.921 256 454 146 111 165 Benign 8.869 30179 chr18 44526837 44526837 T C rs9973035 KATNAL2 Star tloss M1? 0.045 0.039 0.031 13 53 15 0.033 9 2 1 0 0 14.61 30180 chr19 1037715 1037715 T C rs200177867 CNN2 Nonsynonymous SNV M210T 0.233 0.25 0.139 85 274 96 0.218 41 0 0 0 0 26.3 30181 chr18 77659561 77659561 G T rs3744886 KCNG2 Synonymous SNV G382G 0.201 0.151 0.221 73 236 58 0.187 65 31 5 6 8 4.106 30182 chr7 128850875 128850875 T C rs2016607 SMO Synonymous SNV S574S 0.011 0.008 0.01 4 13 3 0.01 3 0 0 0 0 7.715 30183 chr7 129297332 129297332 T G rs1882094 NRF1 Synonymous SNV S47S 0.226 0.221 0.279 102 265 85 0.262 82 31 9 7 19 5.766 30184 chr19 1037716 1037716 G A rs201532581 CNN2 Nonsynonymous SNV M210I 0.233 0.255 0.136 86 274 98 0.221 40 0 0 0 0 29.8 30185 chr19 11227554 11227554 C T rs1799898 LDLR Synonymous SNV L407L 0.227 0.214 0.204 80 266 82 0.205 60 40 9 5 9 Benign/Likely benign 8.97 30186 chr7 129663496 129663496 C T rs11556924 ZC3HC1 Nonsynonymous SNV R320H 0.343 0.396 0.327 121 403 152 0.31 96 62 34 18 17 34 30187 chr19 1037718 1037718 G T rs199741851 CNN2 Nonsynonymous SNV G211V 0.234 0.255 0.139 86 275 98 0.221 41 0 0 0 0 29.9 30188 chr18 77473086 77473086 G A rs599554 CTDP1 Synonymous SNV T207T 0.186 0.185 0.194 82 218 71 0.21 57 22 10 5 8 Benign 8.315 30189 chr7 129664312 129664312 T C rs1464890 ZC3HC1 Nonsynonymous SNV T271A 0.616 0.638 0.565 227 723 245 0.582 166 221 76 48 64 2.455 30190 chr18 77477873 77477873 G A rs140627086 CTDP1 Synonymous SNV P639P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign/Likely benign 4.127 30191 chr19 11233900 11233900 G A LDLR Nonsynonymous SNV V563I 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 8.813 30192 chr19 1037749 1037749 G A rs77454210 CNN2 Synonymous SNV Q221Q 0.241 0.266 0.17 91 283 102 0.233 50 0 0 0 0 9.066 30193 chr18 44773413 44773413 T C SKOR2 Synonymous SNV R714R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 30194 chr7 129855837 129855837 C T rs4728190 SSMEM1 Nonsynonymous SNV R88W 0.259 0.214 0.221 111 304 82 0.285 65 39 8 7 10 8.632 30195 chr1 151254023 151254023 A C rs59912932 ZNF687-AS1 0 0 0.146 0 0 0 0 43 0 0 3 0 16.97 30196 chr18 46163049 46163049 C T rs2277712 CTIF Nonsynonymous SNV P82L 0.044 0.068 0.068 20 52 26 0.051 20 2 1 0 1 20.6 30197 chr7 97933601 97933601 C T rs1045916 BAIAP2L1 Synonymous SNV L443L 0.728 0.745 0.67 267 855 286 0.685 197 315 106 63 92 14.52 30198 chr19 1037756 1037756 G A rs77830704 CNN2 Nonsynonymous SNV G224S 0.247 0.276 0.184 95 290 106 0.244 54 0 0 0 0 33 30199 chr1 151254041 151254041 T C rs3811406 ZNF687-AS1 0 0 0.799 0 0 0 0 235 0 0 94 0 0.008 30200 chr19 11257018 11257018 T C rs11557092 SPC24 Nonsynonymous SNV K175R 0.662 0.661 0 252 777 254 0.646 0 262 84 0 82 0.63 30201 chr7 98445727 98445727 G A rs149598430 TMEM130 Synonymous SNV H306H 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 6.489 30202 chr7 129962360 129962360 A G rs1569133 CPA4 Synonymous SNV A337A 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.703 30203 chr19 1037766 1037766 G A rs78386506 CNN2 Nonsynonymous SNV R227Q 0.271 0.289 0.197 103 318 111 0.264 58 0 0 0 0 24.3 30204 chr1 151259043 151259043 C T rs2298265 ZNF687 Synonymous SNV P92P 0.169 0.161 0.15 57 198 62 0.146 44 16 4 3 7 8.529 30205 chr7 129986338 129986338 C T rs6973851 CPA5 Synonymous SNV T4T 0.556 0.565 0.619 221 653 217 0.567 182 188 62 58 58 7.032 30206 chr1 151259543 151259543 G A rs3748545 ZNF687 Nonsynonymous SNV G259E 0.17 0.161 0.15 57 199 62 0.146 44 16 4 3 7 0.001 30207 chr19 11319491 11319491 G A rs8409 DOCK6 Synonymous SNV N1653N 0.645 0.589 0.561 262 757 226 0.672 165 241 70 44 87 Benign 12.24 30208 chr7 129989878 129989878 T C rs7808823 CPA5 Synonymous SNV S87S 0.532 0.516 0.493 210 625 198 0.538 145 164 51 36 61 0.06 30209 chr18 46474797 46474797 G A rs145686330 SMAD7 Synonymous SNV P208P 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Benign 5.691 30210 chr18 33848581 33848581 T C rs1057251 MOCOS Nonsynonymous SNV V867A 0.125 0.109 0.126 45 147 42 0.115 37 9 3 4 2 19.58 30211 chr18 28648975 28648975 C T rs61731921 DSC2 Nonsynonymous SNV R798Q 0.037 0.026 0.034 17 43 10 0.044 10 0 0 0 0 Benign/Likely benign 5.922 30212 chr18 77896242 77896242 C T rs3826595 ADNP2 Synonymous SNV D982D 0.093 0.115 0.105 45 109 44 0.115 31 5 1 3 2 3.532 30213 chr19 11324965 11324965 C T rs34243815 DOCK6 Nonsynonymous SNV A1442T 0.113 0.115 0.099 43 133 44 0.11 29 6 3 1 1 25.6 30214 chr7 130002317 130002317 T C rs1544705 CPA5 Synonymous SNV I191I 0.835 0.833 0.816 318 980 320 0.815 240 401 133 98 128 8.722 30215 chr1 151260673 151260673 G A rs12745008 ZNF687 Nonsynonymous SNV G636S 0.074 0.078 0.058 25 87 30 0.064 17 4 0 0 3 0.13 30216 chr18 8069757 8069757 A G rs145226629 PTPRM Synonymous SNV P402P 0.028 0.016 0.014 16 33 6 0.041 4 0 0 0 0 9.022 30217 chr7 130021488 130021488 G C rs1126899 CPA1 Synonymous SNV G55G 0.451 0.479 0.497 178 529 184 0.456 146 120 40 38 47 Benign 5.286 30218 chr1 151262327 151262327 - C rs749403447 ZNF687 Frameshift insertion R939Pfs*36 0 0 0.003 0 0 0 0 1 0 0 0 0 30219 chr7 131190696 131190696 T C rs6651125 PODXL Synonymous SNV A438A 0.368 0.336 0.401 144 432 129 0.369 118 90 21 30 26 5.507 30220 chr19 1037801 1037801 A C rs78797154 CNN2 Nonsynonymous SNV T239P 0.265 0.281 0.17 109 311 108 0.279 50 0 0 0 0 0.011 30221 chr18 8113646 8113646 G A rs149158808 PTPRM Synonymous SNV A673A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 12.73 30222 chr7 131195712 131195712 G A rs12670788 PODXL Nonsynonymous SNV S194L 0.36 0.352 0.367 145 423 135 0.372 108 85 25 25 28 0.008 30223 chr18 909561 909561 A G rs2231187 ADCYAP1 Synonymous SNV K152K 0.244 0.253 0.252 109 286 97 0.279 74 33 14 12 13 3.737 30224 chr7 98792835 98792835 G A rs61751722 KPNA7 Synonymous SNV A137A 0.089 0.099 0.065 37 104 38 0.095 19 2 3 0 2 9.186 30225 chr19 1037807 1037807 G A rs78288829 CNN2 Nonsynonymous SNV A241T 0.233 0.25 0.16 100 273 96 0.256 47 0 0 0 0 7.9 30226 chr1 151316324 151316324 C T rs2233851 RFX5 Nonsynonymous SNV R197Q 0.032 0.029 0.017 13 37 11 0.033 5 1 0 0 1 Benign 26.7 30227 chr7 131195959 131195959 C T rs3735035 PODXL Nonsynonymous SNV G112S 0.36 0.349 0.367 145 423 134 0.372 108 85 25 25 28 0.001 30228 chr19 1037810 1037810 G C rs80117328 CNN2 Nonsynonymous SNV D242H 0.226 0.227 0.163 97 265 87 0.249 48 0 0 0 0 10.54 30229 chr18 28919779 28919779 A C rs8091003 DSG1 Nonsynonymous SNV N493T 0.082 0.096 0.068 31 96 37 0.079 20 5 1 1 0 0.001 30230 chr18 9399411 9399411 G A rs72948180 TWSG1 Synonymous SNV E186E 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 11.69 30231 chr19 1037812 1037812 T C rs79770201 CNN2 Synonymous SNV D242D 0.249 0.242 0.18 109 292 93 0.279 53 0 0 0 0 0.009 30232 chr7 131241029 131241029 - GGCGAC rs571821675 PODXL S31_Q32insPS 0.199 0.198 0.218 97 234 76 0.249 64 50 17 16 24 30233 chr18 28919794 28919794 C A rs8091117 DSG1 Nonsynonymous SNV T498N 0.082 0.096 0.068 31 96 37 0.079 20 5 1 1 0 0.029 30234 chr19 1037828 1037828 A G rs75602230 CNN2 Nonsynonymous SNV T248A 0.221 0.203 0.167 97 259 78 0.249 49 0 0 0 0 0.001 30235 chr7 131815310 131815310 A G rs2671103 PLXNA4 Synonymous SNV D1871D 0.868 0.867 0.888 341 1019 333 0.874 261 441 146 117 149 2.032 30236 chr7 131864591 131864591 T C rs3734989 PLXNA4 Synonymous SNV A1243A 0.641 0.609 0.636 240 753 234 0.615 187 244 70 55 79 2.722 30237 chr19 1037833 1037833 C A rs80286396 CNN2 Synonymous SNV G249G 0.189 0.18 0.177 89 222 69 0.228 52 0 0 0 0 14.52 30238 chr1 151503071 151503071 G A rs138238589 CGN Nonsynonymous SNV R807Q 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 35 30239 chr18 28919884 28919884 A C rs16961689 DSG1 Nonsynonymous SNV Y528S 0.078 0.091 0.065 30 91 35 0.077 19 5 0 1 0 0.001 30240 chr19 1037842 1037842 G T rs79061930 CNN2 Synonymous SNV P252P 0.149 0.151 0.139 77 175 58 0.197 41 0 0 0 0 3.848 30241 chr7 99282853 99282853 C T rs114159766 CYP3A7-CYP3A51P Nonsynonymous SNV R535H 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 0.783 30242 chr19 11508177 11508177 G A rs2291516 RGL3 Nonsynonymous SNV R615C 0.136 0.12 0.129 61 160 46 0.156 38 7 4 0 6 21.7 30243 chr7 132070054 132070054 T C rs741664 PLXNA4 Nonsynonymous SNV M458V 0.611 0.672 0.585 260 717 258 0.667 172 219 90 51 94 3.048 30244 chr19 1037844 1037844 A G rs74612849 CNN2 Nonsynonymous SNV D253G 0.148 0.146 0.15 75 174 56 0.192 44 0 0 0 0 0.002 30245 chr18 28919911 28919911 A G rs61730306 DSG1 Nonsynonymous SNV K537R 0.078 0.091 0.065 30 91 35 0.077 19 5 0 1 0 0.001 30246 chr18 8784723 8784723 A G rs3744979 MTCL1 Nonsynonymous SNV D538G 0.124 0.13 0.099 36 146 50 0.092 29 10 2 3 3 23.2 30247 chr19 1037848 1037848 G A rs76751843 CNN2 Synonymous SNV P254P 0.138 0.135 0.133 66 162 52 0.169 39 0 0 0 0 6.233 30248 chr7 132192295 132192295 G A rs156961 PLXNA4 Synonymous SNV L386L 0.428 0.417 0.425 172 502 160 0.441 125 98 31 29 36 1.732 30249 chr7 99457605 99457605 C G rs680055 CYP3A43 Nonsynonymous SNV P230A 0.049 0.047 0.078 24 58 18 0.062 23 1 0 0 2 16.6 30250 chr7 132192949 132192949 T C rs156962 PLXNA4 Synonymous SNV S168S 0.428 0.417 0.425 173 503 160 0.444 125 98 31 29 37 0.002 30251 chr18 8819246 8819246 C T rs55676538 MTCL1 Nonsynonymous SNV R1049C 0.012 0.003 0 2 14 1 0.005 0 0 0 0 0 7.835 30252 chr18 28919913 28919913 G A rs34302455 DSG1 Nonsynonymous SNV D538N 0.078 0.091 0.065 30 91 35 0.077 19 5 0 1 0 0.049 30253 chr18 47911594 47911594 G T rs78545242 SKA1 Nonsynonymous SNV G107V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.795 30254 chr7 133580447 133580447 G A rs2042456 EXOC4 Synonymous SNV V610V 0.381 0.432 0.497 144 447 166 0.369 146 76 36 35 27 11.72 30255 chr7 99461160 99461160 G T rs143991326 CYP3A43 Nonsynonymous SNV R308S 0.001 0.008 0.003 3 1 3 0.008 1 0 0 0 0 25.3 30256 chr19 11526765 11526765 G T rs167479 RGL3 Nonsynonymous SNV P162H 0.503 0.51 0.364 205 591 196 0.526 107 149 60 31 53 26 30257 chr7 133749164 133749164 G A rs6953296 EXOC4 Synonymous SNV Q936Q 0.616 0.654 0.66 256 723 251 0.656 194 223 80 59 86 7.091 30258 chr18 47911631 47911631 A G rs11538068 SKA1 Synonymous SNV E119E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.118 30259 chr7 99473858 99473858 G C rs17161997 OR2AE1 Nonsynonymous SNV L267V 0.049 0.039 0.075 24 57 15 0.062 22 1 0 0 2 8.496 30260 chr7 133868507 133868507 C T rs1222419 LRGUK Synonymous SNV A412A 0.997 0.997 0.997 389 1171 383 0.997 293 584 191 146 194 13.62 30261 chr19 11598133 11598133 G A rs146146262 ZNF653 Nonsynonymous SNV A382V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 6.598 30262 chr7 134618496 134618496 G A rs61757650 CALD1 Nonsynonymous SNV E326K 0.063 0.034 0 20 74 13 0.051 0 3 0 0 0 22.8 30263 chr19 11727648 11727648 C T ZNF627 Synonymous SNV G110G 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 10.78 30264 chr1 152057794 152057794 G C rs61750909 TCHHL1 Synonymous SNV P788P 0.043 0.034 0.044 21 50 13 0.054 13 0 1 1 1 0.178 30265 chr7 134618710 134618710 A G rs6973420 CALD1 Nonsynonymous SNV H397R 0.405 0.419 0.401 173 475 161 0.444 118 94 32 28 40 0.001 30266 chr7 134678253 134678253 T A rs2348049 AGBL3 Nonsynonymous SNV F45Y 0.322 0.346 0.323 128 378 133 0.328 95 61 25 13 20 2.159 30267 chr18 77805856 77805856 A C rs3744872 RBFA Nonsynonymous SNV N245H 0.265 0.247 0.224 97 311 95 0.249 66 40 9 10 14 9.622 30268 chr7 134701856 134701856 G C rs4236655 AGBL3 Nonsynonymous SNV E122Q 0.993 0.995 0.973 385 1166 382 0.987 286 579 190 139 190 23.8 30269 chr19 12256358 12256358 T G rs12972621 ZNF625 Synonymous SNV R291R 0.463 0.497 0.459 204 544 191 0.523 135 123 50 28 49 11.77 30270 chr7 99506304 99506304 A G rs139880372 TRIM4 Synonymous SNV N207N 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 0.108 30271 chr7 134719551 134719551 C G rs9656447 AGBL3 Synonymous SNV L403L 0.993 0.995 0.973 385 1166 382 0.987 286 579 190 139 190 6.48 30272 chr19 10446568 10446568 T C rs2304237 ICAM3 Nonsynonymous SNV D143G 0.273 0.273 0.282 94 321 105 0.241 83 48 21 14 10 0.36 30273 chr7 134730252 134730252 C T rs117168663 AGBL3 Nonsynonymous SNV T53M 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Benign 29.9 30274 chr7 99693078 99693078 G A rs12267 MCM7 Synonymous SNV I361I 0.345 0.359 0.381 137 405 138 0.351 112 63 30 17 17 12.93 30275 chr18 77891039 77891039 T A rs1064058 ADNP2 Synonymous SNV G54G 0.182 0.206 0.163 77 214 79 0.197 48 20 5 6 9 10.13 30276 chr19 10449358 10449358 T C rs7258015 ICAM3 Nonsynonymous SNV R115G 0.275 0.273 0.276 95 323 105 0.244 81 48 21 14 10 0.024 30277 chr7 99702947 99702947 G A rs41280968 AP4M1 Nonsynonymous SNV R278H 0.079 0.065 0.068 32 93 25 0.082 20 2 1 0 2 Benign 23 30278 chr18 77893683 77893683 A G rs1064059 ADNP2 Synonymous SNV A129A 0.187 0.206 0.167 77 220 79 0.197 49 21 5 6 9 0.004 30279 chr7 134849213 134849213 G A rs3800592 TMEM140 Nonsynonymous SNV R7Q 0.54 0.565 0.602 221 634 217 0.567 177 161 62 54 62 3.152 30280 chr18 77895192 77895192 G A rs3744878 ADNP2 Synonymous SNV A632A 0.163 0.161 0.126 62 191 62 0.159 37 15 3 2 7 1.539 30281 chr7 134849280 134849280 T A rs292501 TMEM140 Nonsynonymous SNV F29L 0.993 0.995 0.976 385 1166 382 0.987 287 579 190 140 190 5.597 30282 chr19 12772090 12772090 C T rs1133330 MAN2B1 Nonsynonymous SNV R337Q 0.409 0.438 0.507 158 480 168 0.405 149 99 31 40 30 Benign 18.09 30283 chr7 99757612 99757612 G A rs3823646 GAL3ST4 Nonsynonymous SNV A467V 0.618 0.607 0.667 224 726 233 0.574 196 221 74 60 61 20.6 30284 chr7 134849577 134849577 A C rs2288237 TMEM140 Synonymous SNV A128A 0.538 0.57 0.602 222 632 219 0.569 177 161 64 54 63 0.003 30285 chr19 12772165 12772165 G A rs1054487 MAN2B1 Nonsynonymous SNV T312I 0.432 0.445 0.527 162 507 171 0.415 155 107 32 44 31 Benign 0.007 30286 chr7 99758136 99758136 T G rs3800951 GAL3ST4 Synonymous SNV A292A 0.618 0.612 0.667 224 726 235 0.574 196 221 75 60 61 8.262 30287 chr7 134871775 134871775 C T rs292557 WDR91 Synonymous SNV S702S 0.733 0.711 0.728 292 861 273 0.749 214 314 96 76 111 17.13 30288 chr7 134879830 134879830 G A rs292575 WDR91 Synonymous SNV D417D 0.73 0.706 0.728 287 857 271 0.736 214 311 94 76 108 1.038 30289 chr7 99768957 99768957 C T rs75779608 GPC2 Synonymous SNV R471R 0.267 0.307 0.218 112 314 118 0.287 64 47 28 13 12 14.39 30290 chr19 10114759 10114759 C T rs76321360 COL5A3 Synonymous SNV R219R 0.067 0.052 0.037 21 79 20 0.054 11 1 1 0 0 12.62 30291 chr19 1049269 1049269 G A rs4147914 ABCA7 Synonymous SNV L795L 0.181 0.198 0.16 82 212 76 0.21 47 14 9 5 10 4.406 30292 chr7 134889141 134889141 G A rs292592 WDR91 Nonsynonymous SNV P257L 0.73 0.701 0.728 287 857 269 0.736 214 311 94 76 108 24.7 30293 chr19 1004549 1004549 G A rs144334537 GRIN3B Nonsynonymous SNV R350H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.112 30294 chr7 99957129 99957131 CCT - rs397890520 PILRB L212del 0.182 0.25 0.207 81 214 96 0.208 61 15 10 9 6 30295 chr19 12774208 12774208 G C rs1054486 MAN2B1 Nonsynonymous SNV L278V 0.273 0.224 0.306 105 321 86 0.269 90 44 10 17 9 Benign 0.002 30296 chr7 100017454 100017454 G A rs7783159 ZCWPW1 Synonymous SNV Y27Y 0.192 0.258 0.231 79 225 99 0.203 68 19 13 11 5 0.005 30297 chr7 135047703 135047703 T C rs6969632 CNOT4 Synonymous SNV T621T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.368 30298 chr7 100028187 100028187 C T rs6975729 MEPCE Synonymous SNV P182P 0.192 0.26 0.231 79 225 100 0.203 68 19 12 11 5 10.66 30299 chr7 135048804 135048804 C T rs3812265 CNOT4 Nonsynonymous SNV V545I 0.159 0.156 0.163 64 187 60 0.164 48 16 5 2 3 8.526 30300 chr19 12863429 12863429 G A rs79300835 BEST2 Nonsynonymous SNV R8Q 0.113 0.115 0.105 53 133 44 0.136 31 7 3 1 5 22.8 30301 chr7 100028484 100028484 T C rs6962151 MEPCE Synonymous SNV S281S 0.194 0.26 0.248 79 228 100 0.203 73 19 12 13 5 0.002 30302 chr19 10132290 10132290 C T rs747574 RDH8 Synonymous SNV L267L 0.147 0.161 0.119 61 173 62 0.156 35 12 3 3 4 7.628 30303 chr7 135095270 135095270 A G rs2696877 CNOT4 Synonymous SNV Y272Y 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 1.608 30304 chr19 12876964 12876964 G C rs897804 HOOK2 Nonsynonymous SNV H488Q 0.403 0.456 0.446 147 473 175 0.377 131 100 41 37 24 18.02 30305 chr7 100072031 100072031 T C rs7809801 TSC22D4 Synonymous SNV P265P 0.194 0.26 0.245 79 228 100 0.203 72 19 12 13 5 0.022 30306 chr7 100088640 100088640 C G rs2897358 NYAP1 Synonymous SNV S730S 0.195 0.26 0.245 79 229 100 0.203 72 20 12 13 5 11.13 30307 chr7 135279315 135279315 A C rs7800214 NUP205 Synonymous SNV A259A 0.579 0.583 0.585 218 680 224 0.559 172 200 67 51 61 0.187 30308 chr19 10218332 10218332 A G rs2305789 SNORD105 0.044 0.057 0.102 36 52 22 0.092 30 6 3 0 5 0.446 30309 chr18 5397383 5397383 G A rs61736460 EPB41L3 Nonsynonymous SNV P617S 0.024 0.026 0.007 9 28 10 0.023 2 0 0 0 0 0.002 30310 chr7 100160264 100160264 T C rs17855473 AGFG2 Nonsynonymous SNV M349T 0.199 0.198 0.187 77 234 76 0.197 55 28 9 7 4 0.002 30311 chr1 152636843 152636843 A T rs9793541 LCE2D Nonsynonymous SNV S88C 0.239 0.253 0.272 61 281 97 0.156 80 31 14 12 5 0.004 30312 chr19 12958697 12958697 T C rs2290688 MAST1 Synonymous SNV F200F 0.227 0.19 0.214 84 266 73 0.215 63 33 9 10 8 1.341 30313 chr7 135304273 135304273 G C rs7810767 NUP205 Nonsynonymous SNV E998Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 6.583 30314 chr19 12963143 12963143 T C rs1078264 MAST1 Synonymous SNV D337D 0.225 0.19 0.211 83 264 73 0.213 62 32 9 9 8 0.082 30315 chr19 10224548 10224548 G A rs3745601 P2RY11, PPAN-P2RY11 Nonsynonymous SNV A87T 0.089 0.089 0.078 41 105 34 0.105 23 6 2 0 2 27.5 30316 chr7 100172084 100172084 C T rs60247889 ZASP Synonymous SNV P32P 0.107 0.13 0.129 48 126 50 0.123 38 10 3 5 3 2.357 30317 chr18 9562042 9562042 C T rs2306134 PPP4R1 Nonsynonymous SNV S593N 0.213 0.19 0.218 69 250 73 0.177 64 27 10 10 7 1.135 30318 chr7 100172858 100172858 C T rs3197597 LRCH4 Nonsynonymous SNV V642M 0.085 0.109 0.102 32 100 42 0.082 30 3 3 1 1 26.7 30319 chr7 135392876 135392876 T C rs3110800 SLC13A4 Synonymous SNV G117G 0.571 0.591 0.602 245 670 227 0.628 177 196 68 57 76 1.215 30320 chr19 12985576 12985576 A G rs11085822 MAST1 Synonymous SNV S1535S 0.223 0.188 0.211 83 262 72 0.213 62 32 9 9 8 0.002 30321 chr7 135406176 135406176 A G rs4596594 SLC13A4 Synonymous SNV L65L 0.481 0.474 0.531 189 565 182 0.485 156 138 38 42 49 5.571 30322 chr19 10265593 10265593 G T rs2228613 DNMT1 Synonymous SNV I528I 0.057 0.052 0.071 32 67 20 0.082 21 1 0 0 1 Benign 8.119 30323 chr7 100175010 100175010 C T rs140761835 LRCH4 Nonsynonymous SNV R394Q 0.009 0.018 0.017 5 10 7 0.013 5 0 1 1 0 23 30324 chr19 12989560 12989560 G A rs2293682 DNASE2 Synonymous SNV S145S 0.17 0.13 0.177 63 199 50 0.162 52 18 3 4 3 1.575 30325 chr7 137255996 137255996 A T rs863082 DGKI Synonymous SNV G624G 0.106 0.091 0.143 45 125 35 0.115 42 7 2 3 3 0.083 30326 chr19 12996740 12996740 A G rs2072597 KLF1 Nonsynonymous SNV S102P 0.247 0.201 0.221 94 290 77 0.241 65 36 9 10 10 Benign 0.002 30327 chr7 137600690 137600690 C T rs273957 CREB3L2 Nonsynonymous SNV V130I 0.619 0.622 0.622 226 727 239 0.579 183 222 78 58 70 1.817 30328 chr7 100187349 100187349 T A rs145042937 FBXO24 Nonsynonymous SNV V29D 0.014 0.018 0.014 10 16 7 0.026 4 0 0 0 0 22.7 30329 chr7 100198386 100198386 C T rs11768465 FBXO24 Nonsynonymous SNV T524M 0.164 0.208 0.204 66 193 80 0.169 60 16 11 4 6 14.76 30330 chr1 152777868 152777868 A G rs36107483 LCE1C Synonymous SNV C29C 0.307 0.294 0.316 100 360 113 0.256 93 52 21 17 12 0.019 30331 chr7 137612914 137612916 TGG - rs3217268 CREB3L2 T100del 0.549 0.526 0.561 216 645 202 0.554 165 164 51 47 62 30332 chr1 152882982 152882982 C G rs7520711 IVL Nonsynonymous SNV Q237E 0.025 0.021 0.014 9 29 8 0.023 4 3 2 1 1 Benign 0.001 30333 chr18 55309018 55309018 C T rs385648 LOC100505549 0.317 0.26 0 126 372 100 0.323 0 76 16 0 26 1.633 30334 chr7 100225031 100225031 G A rs2075674 TFR2 Synonymous SNV A446A 0.137 0.161 0.18 47 161 62 0.121 53 10 8 5 3 Benign 14.49 30335 chr19 13318811 13318811 C T rs147221323 CACNA1A Synonymous SNV P2279P 0.041 0.044 0.014 14 48 17 0.036 4 0 1 0 0 Benign 17.43 30336 chr7 138145431 138145431 G A rs757250911 TRIM24 Synonymous SNV E46E 0 0 0 0 0 0 0 0 0 0 0 0 11.4 30337 chr18 9944956 9944956 T C rs29133 VAPA Synonymous SNV T151T 0.043 0.047 0.054 16 51 18 0.041 16 0 0 0 0 7.248 30338 chr7 138265310 138265310 A G rs33935215 TRIM24 Synonymous SNV G829G 0.158 0.125 0.139 61 186 48 0.156 41 11 6 3 5 10.72 30339 chr7 100244678 100244678 G A rs141640000 ACTL6B Synonymous SNV Y284Y 0.016 0.023 0.02 6 19 9 0.015 6 0 1 1 0 6.986 30340 chr19 13319693 13319693 A G rs16051 CACNA1A Synonymous SNV H2220H 0.479 0.445 0.248 184 562 171 0.472 73 165 46 25 49 Benign 7.685 30341 chr19 1037640 1037640 C T rs200303627 CNN2 Nonsynonymous SNV P185L 0.029 0.044 0 10 34 17 0.026 0 0 0 0 0 23.4 30342 chr18 9944960 9944960 A G rs29132 VAPA Nonsynonymous SNV M153V 0.043 0.047 0.054 16 51 18 0.041 16 0 0 0 0 0.002 30343 chr7 138341230 138341230 G A rs143732886 SVOPL Nonsynonymous SNV P14L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 30 30344 chr18 32825947 32825947 A G ZNF397 Synonymous SNV E426E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.679 30345 chr19 1037646 1037646 C - rs371146424 CNN2 R188Gfs*113 0.032 0.036 0 9 37 14 0.023 0 0 0 0 0 30346 chr19 1037670 1037670 A G rs199840457 CNN2 Nonsynonymous SNV K195R 0.171 0.195 0.007 56 201 75 0.144 2 0 0 0 0 24.2 30347 chr7 138363767 138363767 A G rs10250576 SVOPL Synonymous SNV P8P 0.44 0.456 0.514 189 516 175 0.485 151 114 42 39 41 0.029 30348 chr7 138417718 138417718 A G rs3807154 ATP6V0A4 Synonymous SNV H604H 0.751 0.768 0.735 289 882 295 0.741 216 336 113 78 109 Benign 0.003 30349 chr1 152975810 152975810 G A rs72704847 SPRR3 Nonsynonymous SNV G105D 0.01 0.013 0.007 4 12 5 0.01 2 0 0 0 0 Benign 14.93 30350 chr19 1037679 1037679 C T rs200505828 CNN2 Nonsynonymous SNV T198I 0.196 0.227 0.014 67 230 87 0.172 4 0 0 0 0 22.3 30351 chr19 10363251 10363251 A C rs113197610 MRPL4 Nonsynonymous SNV K50T 0.023 0.021 0.014 5 27 8 0.013 4 0 0 0 0 5.985 30352 chr7 138418910 138418910 G A rs1026435 ATP6V0A4 Synonymous SNV F554F 0.752 0.753 0.724 286 883 289 0.733 213 338 107 76 106 Benign 6.014 30353 chr19 1370675 1370675 C G rs12608765 PWWP3A Synonymous SNV V460V 0.545 0.565 0.493 207 640 217 0.531 145 175 62 43 56 9.288 30354 chr7 138455988 138455988 A G rs10258719 ATP6V0A4 Nonsynonymous SNV V2A 0.693 0.706 0.701 273 813 271 0.7 206 280 95 73 93 Benign 7.681 30355 chr19 1037681 1037681 G A rs200699249 CNN2 Nonsynonymous SNV D199N 0.194 0.224 0.017 66 228 86 0.169 5 0 0 0 0 22.9 30356 chr7 100420155 100420155 A G rs56173078 EPHB4 Synonymous SNV G182G 0.106 0.065 0.068 26 125 25 0.067 20 7 1 1 0 Benign 0.821 30357 chr7 138486096 138486096 G C rs61729750 TMEM213 Nonsynonymous SNV S36T 0.7 0.682 0.714 273 822 262 0.7 210 280 85 76 99 0.001 30358 chr19 11105608 11105608 T C rs7935 SMARCA4 Synonymous SNV H508H 0.425 0.432 0.408 164 499 166 0.421 120 112 35 25 33 Benign 3.793 30359 chr7 100466441 100466441 G A rs2075756 TRIP6 Nonsynonymous SNV V230I 0.2 0.201 0.18 93 235 77 0.238 53 37 15 6 13 13.79 30360 chr19 14040896 14040896 G A rs11669628 CC2D1A Nonsynonymous SNV A906T 0.173 0.167 0.173 54 203 64 0.138 51 13 8 5 3 Benign 5.173 30361 chr1 153004848 153004848 T C rs3795381 SPRR1B Synonymous SNV P9P 0.434 0.427 0.435 162 509 164 0.415 128 104 37 26 30 2.127 30362 chr19 11170839 11170839 T C rs7275 SMARCA4 Synonymous SNV D1599D 0.346 0.362 0.337 131 406 139 0.336 99 76 27 13 19 Benign 1.119 30363 chr18 51750584 51750584 - GCC rs756585233 MBD2 G115_S116insG 0.036 0.029 0.017 14 42 11 0.036 5 9 2 2 4 30364 chr7 138545996 138545996 G A rs12707399 KIAA1549 Synonymous SNV P1712P 0.239 0.24 0.211 97 280 92 0.249 62 29 14 7 9 9.065 30365 chr1 153004853 153004853 C T rs3795382 SPRR1B Nonsynonymous SNV T11I 0.434 0.427 0.435 162 509 164 0.415 128 104 37 26 30 2.594 30366 chr7 138583840 138583840 C A rs7802841 KIAA1549 Synonymous SNV P1236P 0.619 0.596 0.582 220 727 229 0.564 171 224 69 56 62 20.3 30367 chr19 14074441 14074441 C T rs147242039 RFX1 Nonsynonymous SNV G827S 0.011 0.013 0 1 13 5 0.003 0 0 0 0 0 23.6 30368 chr1 153004983 153004983 C T rs12195 SPRR1B Synonymous SNV P54P 0.433 0.427 0.435 162 508 164 0.415 128 104 37 26 30 18.78 30369 chr7 138596001 138596001 G A rs16873582 KIAA1549 Synonymous SNV S1012S 0.057 0.083 0.068 21 67 32 0.054 20 4 0 1 0 9.623 30370 chr1 153233510 153233510 A G rs6661601 LOR Nonsynonymous SNV S29G 0.274 0.26 0.231 95 322 100 0.244 68 44 13 15 12 0.015 30371 chr7 138596064 138596064 G A rs6969074 KIAA1549 Synonymous SNV Y991Y 0.471 0.521 0.524 192 553 200 0.492 154 148 57 43 51 5.761 30372 chr7 138601572 138601572 C T rs2150283 KIAA1549 Nonsynonymous SNV D934N 0.059 0.073 0.088 26 69 28 0.067 26 2 3 1 0 9.224 30373 chr19 14185226 14185226 T C rs7258963 MISP3 Nonsynonymous SNV V198A 0.311 0.318 0.303 111 365 122 0.285 89 59 17 16 17 11.27 30374 chr7 138601706 138601706 C A rs2354336 KIAA1549 Nonsynonymous SNV G889V 0.059 0.073 0.088 26 69 28 0.067 26 2 3 1 0 9.626 30375 chr19 14512489 14512489 G A rs2230748 ADGRE5 Nonsynonymous SNV R274Q 0.129 0.122 0.146 42 151 47 0.108 43 14 2 3 4 0.007 30376 chr7 138602056 138602056 G A rs61746877 KIAA1549 Synonymous SNV P772P 0.059 0.073 0.088 26 69 28 0.067 26 2 3 1 0 9.735 30377 chr7 138602071 138602071 A G rs61746879 KIAA1549 Synonymous SNV T767T 0.06 0.076 0.088 26 71 29 0.067 26 2 3 1 0 1.186 30378 chr19 14589378 14589378 C T rs1127307 GIPC1 Synonymous SNV A187A 0.226 0.206 0.269 101 265 79 0.259 79 25 8 9 12 17.27 30379 chr7 138602432 138602432 G C rs61734132 KIAA1549 Nonsynonymous SNV S647C 0.059 0.073 0.088 26 69 28 0.067 26 2 3 1 0 14.97 30380 chr18 52604115 52604115 C T rs745339446 CCDC68 Synonymous SNV T140T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.13 30381 chr7 138602523 138602523 T C rs2774962 KIAA1549 Nonsynonymous SNV R617G 0.442 0.487 0.483 182 519 187 0.467 142 120 49 36 44 0.51 30382 chr7 138603282 138603282 T C rs59985563 KIAA1549 Nonsynonymous SNV T364A 0.161 0.18 0.207 62 189 69 0.159 61 18 12 5 3 0.094 30383 chr18 5398134 5398134 C G rs147008674 EPB41L3 Nonsynonymous SNV Q617H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 18.12 30384 chr19 1037856 1037856 T C rs76549406 CNN2 Nonsynonymous SNV V257A 0.132 0.122 0.136 60 155 47 0.154 40 0 0 0 0 0.003 30385 chr7 138732457 138732457 G A rs3735008 ZC3HAV1 Synonymous SNV F986F 0.497 0.523 0.452 190 584 201 0.487 133 152 52 32 41 10.44 30386 chr7 138732497 138732497 G A rs3735007 ZC3HAV1 Nonsynonymous SNV T973I 0.54 0.56 0.503 213 634 215 0.546 148 182 61 41 55 0.002 30387 chr19 11558341 11558346 GAGGAG - rs71166603 PRKCSH E324_E325del 0.131 0.115 0.041 44 154 44 0.113 12 11 5 3 3 30388 chr19 1037869 1037869 C T rs75014171 CNN2 Synonymous SNV P261P 0.109 0.094 0.092 50 128 36 0.128 27 0 0 0 0 14.63 30389 chr19 11687351 11687351 C T rs2305799 ACP5 Nonsynonymous SNV V148M 0.149 0.195 0.136 67 175 75 0.172 40 13 7 3 7 Benign 14.04 30390 chr19 14877806 14877806 G A rs12976475 ADGRE2 Synonymous SNV D157D 0.397 0.336 0.34 138 466 129 0.354 100 224 61 40 61 0.5 30391 chr7 138740037 138740037 G C rs2297236 ZC3HAV1 Nonsynonymous SNV Q823E 0.542 0.552 0.473 199 636 212 0.51 139 180 57 36 44 14.65 30392 chr19 11687908 11687908 G A rs62638747 ACP5 Synonymous SNV F75F 0.149 0.195 0.136 67 175 75 0.172 40 13 7 3 7 Benign 10.6 30393 chr19 1012120 1012120 G A rs7145 TMEM259 Synonymous SNV Y262Y 0.195 0.172 0.153 70 229 66 0.179 45 21 6 4 6 9.729 30394 chr18 33793426 33793426 T C rs144644128 MOCOS Nonsynonymous SNV M439T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 9.492 30395 chr7 139167934 139167934 T G rs1860150 KLRG2 Nonsynonymous SNV K152T 0.664 0.641 0.524 280 780 246 0.718 154 266 82 56 107 12.93 30396 chr18 55021725 55021725 A C rs3745060 ST8SIA3 Nonsynonymous SNV K91T 0.143 0.172 0.16 54 168 66 0.138 47 13 5 2 5 6.175 30397 chr1 154516578 154516578 G A rs3811448 TDRD10 Nonsynonymous SNV V215I 0.217 0.208 0.177 88 255 80 0.226 52 22 7 3 10 0.46 30398 chr7 139168063 139168063 G A rs12707447 KLRG2 Nonsynonymous SNV A109V 0.405 0.401 0.296 190 476 154 0.487 87 95 30 16 50 22.1 30399 chr18 55027334 55027334 G T rs1153626 ST8SIA3 Synonymous SNV P323P 0.143 0.169 0.136 55 168 65 0.141 40 13 5 2 5 8.831 30400 chr18 34298542 34298542 G A rs78740177 FHOD3 Nonsynonymous SNV R902Q 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Benign 22.9 30401 chr1 154561925 154561925 C T rs1127309 ADAR Synonymous SNV V599V 0.3 0.273 0.221 122 352 105 0.313 65 51 17 7 21 Benign 15.49 30402 chr7 139653196 139653196 A C rs5768 TBXAS1 Nonsynonymous SNV E99D 0.986 0.982 0.986 387 1157 377 0.992 290 570 185 143 192 0.586 30403 chr19 12267387 12267387 G T rs190439847 ZNF625-ZNF20 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 6.26 30404 chr18 55222089 55222089 C T FECH Synonymous SNV V267V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.88 30405 chr7 139724555 139724555 C T rs3735352 PARP12 Synonymous SNV P637P 0.236 0.24 0.204 97 277 92 0.249 60 33 11 6 10 14.49 30406 chr19 10659659 10659659 C T rs2304165 ATG4D Synonymous SNV P242P 0.164 0.18 0.167 57 192 69 0.146 49 13 4 6 4 18.43 30407 chr7 139727135 139727135 G A rs2286196 PARP12 Synonymous SNV F523F 0.212 0.216 0.194 89 249 83 0.228 57 28 10 4 10 15.33 30408 chr19 10445368 10445368 T C rs771759809 ICAM3 Nonsynonymous SNV Q247R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.078 30409 chr19 1014377 1014377 A G rs1058506 TMEM259 Synonymous SNV R107R 0.226 0.208 0.173 83 265 80 0.213 51 29 9 5 10 0.024 30410 chr18 3452262 3452262 C T rs8098291 TGIF1 Synonymous SNV S95S 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 11.28 30411 chr19 12385848 12385848 C G rs11882046 ZNF44 Nonsynonymous SNV G12A 0.03 0.036 0.02 8 35 14 0.021 6 1 0 0 1 22.6 30412 chr7 139797431 139797431 G T rs6950119 KDM7A Nonsynonymous SNV R644S 0.435 0.458 0.452 169 511 176 0.433 133 98 37 30 41 18.85 30413 chr7 139801777 139801777 T G rs1062277 KDM7A Synonymous SNV R538R 0.436 0.458 0.463 169 512 176 0.433 136 99 37 30 41 4.545 30414 chr1 15490865 15490865 T A rs61561984 C1orf195 Nonsynonymous SNV Y64F 0.169 0.185 0.17 80 198 71 0.205 50 18 7 6 8 6.329 30415 chr7 140051091 140051091 G A rs12703775 SLC37A3 Synonymous SNV C207C 0.439 0.422 0.446 172 515 162 0.441 131 128 33 34 37 12.46 30416 chr19 15131330 15131330 G A rs35352238 CCDC105 Nonsynonymous SNV V245M 0.254 0.258 0.204 85 298 99 0.218 60 33 15 4 10 23.3 30417 chr7 140080087 140080087 C G rs62490396 SLC37A3 Nonsynonymous SNV V65L 0.45 0.435 0.446 173 528 167 0.444 131 132 33 34 37 12 30418 chr7 100549803 100549803 C G rs200067471 MUC3A Nonsynonymous SNV C128W 0.043 0.029 0.02 10 50 11 0.026 6 0 0 0 0 22.9 30419 chr7 140158851 140158851 C G rs2272095 MKRN1 Nonsynonymous SNV V243L 0.256 0.266 0.235 106 301 102 0.272 69 34 13 9 16 25.4 30420 chr19 10671894 10671894 T G rs11545166 KRI1 Nonsynonymous SNV E179A 0.034 0.029 0.02 10 40 11 0.026 6 0 1 0 0 16.48 30421 chr19 10226450 10226450 C T rs142974473 EIF3G Synonymous SNV T250T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 16.78 30422 chr19 15133787 15133787 C A rs10424547 CCDC105 Synonymous SNV I452I 0.262 0.284 0.201 97 308 109 0.249 59 31 15 5 13 16.3 30423 chr7 140258000 140258000 T C rs12704003 DENND2A Synonymous SNV S634S 0.497 0.521 0.493 190 583 200 0.487 145 151 51 36 49 10.86 30424 chr1 155019710 155019710 A C rs11264300 DCST1 Nonsynonymous SNV M487L 0.368 0.359 0.34 149 432 138 0.382 100 76 20 17 25 14.89 30425 chr19 15133926 15133926 C A rs8112667 CCDC105 Nonsynonymous SNV P499T 0.251 0.276 0.197 88 295 106 0.226 58 31 15 5 12 2.689 30426 chr7 140301731 140301731 G T rs269243 DENND2A Nonsynonymous SNV P156H 0.945 0.94 0.935 372 1110 361 0.954 275 525 169 128 177 8.317 30427 chr19 10273372 10273372 T C rs2228612 DNMT1 Nonsynonymous SNV I311V 0.061 0.063 0.051 24 72 24 0.062 15 1 2 0 0 Benign 0.002 30428 chr7 140373326 140373326 A G rs2968558 ADCK2 Nonsynonymous SNV S66G 0.143 0.154 0.167 69 168 59 0.177 49 13 2 8 6 0.002 30429 chr1 155033308 155033308 G A rs11589479 ADAM15 Synonymous SNV K769K 0.246 0.237 0.265 85 289 91 0.218 78 34 13 12 6 11.24 30430 chr7 140374049 140374049 T C rs1140034 ADCK2 Nonsynonymous SNV S307P 0.143 0.154 0.177 70 168 59 0.179 52 13 2 8 6 10.39 30431 chr18 58039276 58039276 C T rs2229616 MC4R Nonsynonymous SNV V103I 0.009 0.016 0.02 4 11 6 0.01 6 0 0 0 0 Benign 16.98 30432 chr7 140394587 140394587 C T rs1046515 ADCK2 Nonsynonymous SNV P622L 0.1 0.102 0.129 44 117 39 0.113 38 9 2 2 2 10.96 30433 chr19 13318673 13318678 CTGCTG - rs16054 CACNA1A Q2324_Q2325del 0.139 0.19 0.156 73 163 73 0.187 46 59 31 21 26 30434 chr19 13397560 13397560 C T rs16027 CACNA1A Nonsynonymous SNV G1105S 0.123 0.078 0.095 57 144 30 0.146 28 12 2 1 3 Benign 21.7 30435 chr7 140396472 140396472 - G rs397689769 NDUFB2-AS1 0.852 0.776 0.612 345 1000 298 0.885 180 500 149 89 172 30436 chr7 140449150 140449150 T C rs9648696 BRAF Synonymous SNV G643G 0.175 0.198 0.099 77 205 76 0.197 29 23 10 11 8 Benign 7.327 30437 chr19 10799231 10799231 A G ILF3 Nonsynonymous SNV S810G 0.003 0 0 0 3 0 0 0 0 0 0 0 13.96 30438 chr7 140774467 140774467 C G rs477223 TMEM178B Synonymous SNV P119P 0.625 0.591 0.66 249 734 227 0.638 194 252 79 66 84 16.92 30439 chr19 1079959 1079959 G A rs36084354 ARHGAP45 Nonsynonymous SNV M150I 0.06 0.057 0.044 24 71 22 0.062 13 4 0 0 2 21.7 30440 chr18 59174759 59174759 C A rs1943330 CDH20 Nonsynonymous SNV P328H 0.164 0.141 0.167 70 192 54 0.179 49 17 1 6 10 25 30441 chr7 141420768 141420768 A G rs6967301 WEE2 Synonymous SNV A264A 0.509 0.531 0.493 189 598 204 0.485 145 153 49 34 43 2.587 30442 chr19 15271771 15271771 G A rs1044009 NOTCH3 Nonsynonymous SNV A2223V 0.763 0.734 0.704 312 896 282 0.8 207 343 103 76 122 Benign 9.604 30443 chr7 141464765 141464765 C T rs2270009 TAS2R3 Synonymous SNV G269G 0.505 0.456 0.527 187 593 175 0.479 155 153 36 41 39 12.2 30444 chr7 141478308 141478308 T C rs2233998 TAS2R4 Nonsynonymous SNV F7S 0.505 0.456 0.473 188 593 175 0.482 139 154 36 41 40 9.351 30445 chr19 13885309 13885309 C T rs1128749 C19orf53 Synonymous SNV R6R 0.267 0.284 0.248 98 313 109 0.251 73 44 16 10 9 16.42 30446 chr19 15290125 15290125 G A rs56061231 MIR6795 0.715 0.706 0.656 284 839 271 0.728 193 305 96 65 98 Benign 2.984 30447 chr7 141478574 141478574 G C rs2234001 TAS2R4 Nonsynonymous SNV V96L 0.53 0.484 0.527 194 622 186 0.497 155 165 41 42 43 0.02 30448 chr1 156104292 156104292 G A rs12117552 LMNA Synonymous SNV L92L 0.024 0.021 0.02 9 28 8 0.023 6 1 0 0 0 Benign/Likely benign 10.2 30449 chr19 15295134 15295134 G A rs1043996 NOTCH3 Synonymous SNV C846C 0.716 0.695 0.66 285 840 267 0.731 194 306 93 66 99 Benign 2.303 30450 chr7 141478800 141478800 G A rs2234002 TAS2R4 Nonsynonymous SNV S171N 0.53 0.484 0.531 193 622 186 0.495 156 165 41 42 42 0.001 30451 chr19 15300136 15300136 A G rs61749020 NOTCH3 Synonymous SNV P380P 0.066 0.055 0.054 29 78 21 0.074 16 5 0 2 0 Benign/Likely benign 1.121 30452 chr19 13885484 13885484 A G rs10104 C19orf53 Nonsynonymous SNV K39R 0.27 0.284 0.248 97 317 109 0.249 73 45 16 10 9 33 30453 chr7 141490238 141490238 G T rs2227264 TAS2R5 Nonsynonymous SNV S26I 0.504 0.451 0.52 191 592 173 0.49 153 153 36 41 40 13.73 30454 chr19 1535179 1535179 G A rs55953917 PLK5 Nonsynonymous SNV R314Q 0.475 0.51 0.435 198 558 196 0.508 128 130 48 26 52 10.81 30455 chr19 14141666 14141666 G T rs78161395 RLN3 Nonsynonymous SNV G112V 0.144 0.138 0.16 46 169 53 0.118 47 15 3 1 2 0.081 30456 chr18 59821843 59821843 T C rs17069506 PIGN Nonsynonymous SNV K162E 0.049 0.044 0.058 18 58 17 0.046 17 1 0 1 0 Benign 0.026 30457 chr7 141537735 141537735 T G rs12669721 PRSS37 Nonsynonymous SNV T119P 0.519 0.474 0.534 192 609 182 0.492 157 162 41 42 41 0.002 30458 chr1 1562536 1562536 G A rs11544452 MIB2 Synonymous SNV A491A 0.085 0.083 0.112 27 100 32 0.069 33 3 0 0 2 10.34 30459 chr19 1068734 1068734 T C rs3764653 ARHGAP45 Synonymous SNV L154L 0.382 0.331 0.35 134 448 127 0.344 103 75 20 19 25 0.64 30460 chr18 59895550 59895550 C T rs151143967 RELCH Synonymous SNV F389F 0.027 0.016 0.024 13 32 6 0.033 7 0 0 1 0 13.72 30461 chr19 15784377 15784377 C T rs16995376 CYP4F12 Nonsynonymous SNV P13L 0.275 0.242 0.218 104 323 93 0.267 64 41 13 13 16 1.248 30462 chr7 141672604 141672604 T C rs10246939 TAS2R38 Nonsynonymous SNV I296V 0.506 0.5 0.517 209 594 192 0.536 152 143 50 39 59 drug response 0.056 30463 chr19 1068738 1068738 G A rs1801284 ARHGAP45 Nonsynonymous SNV R155H 0.382 0.331 0.35 134 448 127 0.344 103 75 20 19 25 0.003 30464 chr18 59941254 59941254 A C rs17069686 RELCH Synonymous SNV V934V 0.054 0.052 0.071 21 63 20 0.054 21 1 1 1 0 7.192 30465 chr19 14513586 14513586 A C rs150091194 ADGRE5 Nonsynonymous SNV N361T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 16.91 30466 chr7 141672705 141672705 G A rs1726866 TAS2R38 Nonsynonymous SNV A262V 0.491 0.495 0.476 175 576 190 0.449 140 136 49 34 42 20.9 30467 chr7 141857846 141857846 A G rs7811706 MGAM2 Nonsynonymous SNV H678R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.003 30468 chr19 14590279 14590279 G C rs45458894 GIPC1 Nonsynonymous SNV T141S 0.056 0.034 0.031 25 66 13 0.064 9 5 0 0 2 12.73 30469 chr7 141869976 141869976 T C rs1051536460 MGAM2 Synonymous SNV I1043I 0 0 0 0 0 0 0 0 0 0 0 0 3.212 30470 chr7 141872523 141872523 T A rs73547325 MGAM2 Nonsynonymous SNV L1174M 0.104 0.12 0.099 49 122 46 0.126 29 3 3 1 2 23.8 30471 chr7 141896059 141896059 A G rs4236467 MGAM2 Synonymous SNV A1484A 0.679 0.661 0.673 262 797 254 0.672 198 267 87 64 93 4.738 30472 chr7 141898522 141898522 T A rs2960768 MGAM2 Synonymous SNV A1677A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.58 30473 chr18 57000469 57000469 T A rs2298711 LMAN1 Nonsynonymous SNV M410L 0.132 0.104 0.133 55 155 40 0.141 39 10 1 2 3 Benign 10.21 30474 chr19 15807305 15807305 T C rs688755 CYP4F12 Synonymous SNV P460P 0.301 0.273 0.245 116 353 105 0.297 72 50 17 15 19 0.002 30475 chr19 1077985 1077985 A G rs7251797 ARHGAP45 Nonsynonymous SNV S74G 0.39 0.331 0.401 144 458 127 0.369 118 83 18 26 26 0.016 30476 chr7 141921480 141921480 C T rs60502652 MGAM2 Nonsynonymous SNV P2390L 0.099 0.112 0.105 30 116 43 0.077 31 4 3 4 1 15.73 30477 chr19 15807830 15807830 T C rs593421 CYP4F12 Synonymous SNV L504L 0.301 0.273 0.269 116 353 105 0.297 79 50 17 15 19 0.111 30478 chr7 141952110 141952110 G A rs1052406 PRSS58 Synonymous SNV A219A 0.32 0.323 0.32 133 376 124 0.341 94 60 27 14 22 16.12 30479 chr7 142479915 142479915 T C rs377017470 PRSS3P2 0.617 0.617 0.565 235 724 237 0.603 166 143 46 22 42 0.853 30480 chr7 142479940 142479940 C T rs58649169 PRSS3P2 0.373 0.378 0.415 152 438 145 0.39 122 0 0 0 0 7.78 30481 chr7 142479954 142479954 C T rs201779716 PRSS3P2 0.611 0.604 0.578 225 717 232 0.577 170 148 47 23 43 11.52 30482 chr19 14829749 14829749 C T rs3764626 ZNF333 Nonsynonymous SNV A306V 0.238 0.313 0.293 109 279 120 0.279 86 27 18 15 12 20 30483 chr7 142480002 142480002 C A rs199512312 PRSS3P2 0.606 0.604 0.578 224 712 232 0.574 170 148 47 23 43 4.785 30484 chr19 15852363 15852363 G A rs11670007 OR10H3 Nonsynonymous SNV R54H 0.341 0.305 0.282 126 400 117 0.323 83 64 20 16 20 0.041 30485 chr7 142480012 142480012 C T rs56146961 PRSS3P2 0.373 0.378 0.422 152 438 145 0.39 124 0 0 0 0 8.521 30486 chr7 142480034 142480034 C A rs10808019 PRSS3P2 0.371 0.378 0.418 150 436 145 0.385 123 0 0 0 0 11.46 30487 chr19 15852544 15852544 C T rs11670326 OR10H3 Synonymous SNV F114F 0.341 0.305 0.282 126 400 117 0.323 83 64 20 16 20 11.79 30488 chr18 47088741 47088741 C T rs874566 LIPG Synonymous SNV S21S 0.02 0.01 0.014 3 23 4 0.008 4 0 0 0 0 11.89 30489 chr19 11558344 11558346 GAG - PRKCSH E325del 0.045 0.049 0 17 53 19 0.044 0 0 0 0 0 30490 chr7 142480067 142480067 C T rs201659809 PRSS3P2 0.627 0.622 0.578 238 736 239 0.61 170 149 47 23 43 7.297 30491 chr19 14910210 14910210 C G rs73004304 OR7C1 Nonsynonymous SNV V247L 0.201 0.185 0.211 91 236 71 0.233 62 28 9 9 10 22.2 30492 chr19 11725413 11725413 G A rs12151212 ZNF627 Synonymous SNV Q25Q 0.141 0.128 0.153 42 165 49 0.108 45 11 2 6 2 11.22 30493 chr19 15852872 15852872 G A rs2240228 OR10H3 Nonsynonymous SNV V224M 0.239 0.245 0.296 113 281 94 0.29 87 28 9 10 14 18.73 30494 chr19 10960996 10960996 G A rs145427182 C19orf38 Synonymous SNV E31E 0.028 0.021 0.034 12 33 8 0.031 10 0 0 1 0 9.315 30495 chr7 142572304 142572304 G A rs4987704 TRPV6 Synonymous SNV N504N 0.052 0.049 0.058 10 61 19 0.026 17 1 1 0 0 12.48 30496 chr19 14910321 14910321 A G rs16979912 OR7C1 Nonsynonymous SNV S210P 0.203 0.19 0.214 91 238 73 0.233 63 28 10 9 10 0.004 30497 chr7 142583330 142583330 A C rs17881456 TRPV6 Nonsynonymous SNV S18A 0.991 1 0.986 386 1164 384 0.99 290 577 192 144 191 Benign 10.94 30498 chr19 15853150 15853150 C T rs16980824 OR10H3 Synonymous SNV S316S 0.341 0.305 0.279 126 400 117 0.323 82 64 20 16 20 8.197 30499 chr7 142626549 142626549 C T rs4236480 TRPV5 Nonsynonymous SNV R154H 0.348 0.328 0.252 120 409 126 0.308 74 63 17 11 18 4.163 30500 chr19 15918380 15918380 C T rs28426969 OR10H1 Synonymous SNV G156G 0.446 0.458 0.364 180 524 176 0.462 107 128 42 22 33 0.297 30501 chr19 11917007 11917007 G A rs375933257 ZNF491 Nonsynonymous SNV R80H 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 19.32 30502 chr19 15918455 15918455 G A rs61739573 OR10H1 Synonymous SNV R131R 0.254 0.253 0.333 113 298 97 0.29 98 31 11 13 13 3.539 30503 chr7 143017807 143017807 G T rs10282312 CLCN1 Nonsynonymous SNV G118W 0.997 1 0.997 388 1170 384 0.995 293 583 192 146 193 Benign 18.83 30504 chr19 1123031 1123031 C T rs373599971 SBNO2 Synonymous SNV K157K 0.007 0.016 0 2 8 6 0.005 0 0 1 0 0 15.72 30505 chr19 15918647 15918647 G T rs4081570 OR10H1 Synonymous SNV S67S 0.229 0.203 0.255 80 269 78 0.205 75 1 2 8 1 0.368 30506 chr19 11979164 11979164 T C rs10500209 ZNF439 Nonsynonymous SNV L291S 0.228 0.198 0.201 66 268 76 0.169 59 28 6 9 7 0.002 30507 chr19 10461586 10461586 T C rs55886939 TYK2 Nonsynonymous SNV E1163G 0.013 0.016 0.017 6 15 6 0.015 5 0 1 0 0 Benign 16.82 30508 chr7 143042837 143042837 C T rs2272251 CLCN1 Synonymous SNV D718D 0.462 0.435 0.398 163 542 167 0.418 117 122 37 24 31 Benign 10.2 30509 chr19 14910654 14910654 T C rs17230134 OR7C1 Nonsynonymous SNV S99G 0.2 0.185 0.211 91 235 71 0.233 62 28 9 9 10 0.919 30510 chr19 12059645 12059645 A G rs12327617 ZNF700 Nonsynonymous SNV E272G 0.109 0.117 0.099 52 128 45 0.133 29 5 3 2 3 23.2 30511 chr7 143079806 143079806 G A rs6464546 MIR6892 0.602 0.555 0.568 217 707 213 0.556 167 212 62 50 58 4.885 30512 chr19 11303554 11303554 A G rs17616661 KANK2 Nonsynonymous SNV M401T 0.067 0.099 0.085 21 79 38 0.054 25 3 2 0 1 0.034 30513 chr7 143085968 143085968 C T rs41277425 ZYX Nonsynonymous SNV R444C 0.008 0.008 0.003 4 9 3 0.01 1 0 0 0 0 22.8 30514 chr7 100550439 100550439 C T rs79004610 MUC3A Synonymous SNV P340P 0.212 0.219 0.221 82 249 84 0.21 65 0 0 0 0 1.812 30515 chr19 14951898 14951898 G T rs3752195 OR7A10 Synonymous SNV A264A 0.192 0.169 0.16 69 225 65 0.177 47 21 6 2 5 1.418 30516 chr7 100550442 100550442 C T rs772371023 MUC3A Synonymous SNV T341T 0.124 0.133 0 39 146 51 0.1 0 0 0 0 0 0.508 30517 chr7 143088823 143088823 T C rs1804527 EPHA1 Synonymous SNV P914P 0.98 0.979 0.969 385 1151 376 0.987 285 564 184 138 190 1.74 30518 chr18 60383982 60383982 G A rs12957017 PHLPP1 Nonsynonymous SNV A356T 0.042 0.044 0.044 13 49 17 0.033 13 1 0 0 0 22.4 30519 chr19 11304404 11304404 C T rs755237 KANK2 Nonsynonymous SNV G118S 0.066 0.089 0.078 21 78 34 0.054 23 3 2 0 1 1.663 30520 chr7 143088867 143088867 T C rs6967117 EPHA1 Nonsynonymous SNV M900V 0.98 0.979 0.969 385 1151 376 0.987 285 564 184 138 190 0.016 30521 chr19 16045076 16045076 A T rs144570608 CYP4F11 Nonsynonymous SNV L48H 0.024 0.039 0.024 8 28 15 0.021 7 0 0 0 0 21.2 30522 chr19 11304498 11304498 C T rs755238 KANK2 Synonymous SNV S86S 0.066 0.086 0.078 20 77 33 0.051 23 3 2 0 1 14.94 30523 chr7 143093538 143093538 G A rs10952549 EPHA1 Synonymous SNV L613L 0.769 0.729 0.786 316 903 280 0.81 231 339 101 93 130 10.78 30524 chr18 60985600 60985600 G A rs61733416 BCL2 Synonymous SNV A100A 0.019 0.008 0.02 0 22 3 0 6 0 0 0 0 9.324 30525 chr19 11305161 11305161 A G rs754529 KANK2 Synonymous SNV A9A 0.066 0.089 0.078 21 77 34 0.054 23 3 2 0 1 11.23 30526 chr19 12739045 12739045 C T rs117380840 ZNF791 Synonymous SNV H234H 0.016 0.008 0.014 3 19 3 0.008 4 0 0 0 0 13.16 30527 chr7 143097100 143097100 A G rs4725617 EPHA1 Nonsynonymous SNV V160A 0.976 0.979 0.963 378 1146 376 0.969 283 559 184 136 183 1.383 30528 chr19 16197320 16197320 T C rs2228367 TPM4 Synonymous SNV I118I 0.041 0.044 0.034 21 48 17 0.054 10 0 0 0 2 6.933 30529 chr19 12760200 12760200 G A rs35880640 MAN2B1 Synonymous SNV P770P 0.02 0.008 0.017 3 24 3 0.008 5 0 0 0 0 Likely benign 8.294 30530 chr19 16259623 16259623 C T rs8103852 HSH2D Synonymous SNV T21T 0.06 0.042 0.092 18 70 16 0.046 27 2 1 2 0 21.6 30531 chr7 143141475 143141475 T C rs4595035 TAS2R60 Synonymous SNV R310R 0.655 0.648 0.629 235 769 249 0.603 185 257 74 61 68 0.028 30532 chr19 11319636 11319636 G A rs117328686 DOCK6 Nonsynonymous SNV A1632V 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 17.92 30533 chr7 143175154 143175154 G A rs1404635 TAS2R41 Synonymous SNV T63T 0.243 0.229 0.245 88 285 88 0.226 72 34 11 10 9 9.173 30534 chr19 1062179 1062179 G A rs777219455 ABCA7 Nonsynonymous SNV R1860Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.492 30535 chr7 143175345 143175345 C T rs10278721 TAS2R41 Nonsynonymous SNV P127L 0.243 0.229 0.241 89 285 88 0.228 71 34 11 10 9 22.8 30536 chr19 12831714 12831714 G A rs199853524 TNPO2 Synonymous SNV A26A 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 12.66 30537 chr7 143208135 143208135 C T rs2949757 OR10AC1 Nonsynonymous SNV C290Y 0.75 0.758 0 304 880 291 0.779 0 339 115 0 118 10.49 30538 chr7 143208738 143208738 C - rs34333193 OR10AC1 0.761 0.771 0.568 306 893 296 0.785 167 340 115 71 118 30539 chr1 156697056 156697056 T C rs3795737 ISG20L2 Nonsynonymous SNV N130S 0.077 0.096 0.092 23 90 37 0.059 27 4 1 2 1 0.001 30540 chr7 143208968 143208968 A G rs17382409 OR10AC1 Nonsynonymous SNV F13L 0.248 0.237 0 93 291 91 0.238 0 35 11 0 10 21.4 30541 chr7 143701884 143701884 C T rs728275 OR6B1 Synonymous SNV A265A 0.329 0.352 0.303 122 386 135 0.313 89 68 21 11 21 10.56 30542 chr19 11332855 11332855 G A rs767376510 DOCK6 Nonsynonymous SNV R1104W 0.004 0 0 1 5 0 0.003 0 0 0 0 0 35 30543 chr19 1065305 1065305 G A rs139706726 ABCA7 Nonsynonymous SNV E2108K 0.003 0.008 0 0 4 3 0 0 0 0 0 0 19.63 30544 chr7 143747870 143747870 A G rs2961144 OR2A5 Nonsynonymous SNV I126V 0.296 0.362 0.35 103 348 139 0.264 103 59 27 16 11 18.61 30545 chr1 156713985 156713985 C T rs201820242 HDGF Synonymous SNV A169A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 30546 chr19 13065311 13065311 T C rs149233851 GADD45GIP1 Nonsynonymous SNV K127R 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 22.8 30547 chr7 143748098 143748098 G T rs6464573 OR2A5 Nonsynonymous SNV A202S 0.296 0.359 0.35 103 347 138 0.264 103 59 27 16 11 0.176 30548 chr19 15198024 15198024 A T rs59166286 OR1I1 Nonsynonymous SNV I50F 0.141 0.172 0.153 45 165 66 0.115 45 10 11 2 1 0.001 30549 chr19 11408912 11408912 T C rs17001344 TSPAN16 Nonsynonymous SNV L55P 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 20.7 30550 chr7 143748257 143748257 G A rs6464574 OR2A5 Nonsynonymous SNV A255T 0.285 0.346 0.34 101 335 133 0.259 100 56 25 15 10 26.5 30551 chr1 156876492 156876492 C T rs61744071 PEAR1 Nonsynonymous SNV S155L 0.012 0.005 0.007 2 14 2 0.005 2 0 0 0 0 22.7 30552 chr7 143748364 143748364 T C rs4407791 OR2A5 Synonymous SNV Y290Y 0.523 0.581 0.592 198 614 223 0.508 174 164 64 48 50 0.002 30553 chr19 10670360 10670360 C T rs144086254 KRI1 Nonsynonymous SNV A318T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.54 30554 chr7 143771536 143771536 G A rs6951485 OR2A25 Nonsynonymous SNV S75N 0.526 0.573 0.585 196 617 220 0.503 172 164 64 46 47 0.002 30555 chr19 15198441 15198441 G T rs73008811 OR1I1 Nonsynonymous SNV G189C 0.141 0.172 0.153 45 165 66 0.115 45 10 11 2 1 12.07 30556 chr19 13470522 13470522 T C rs16006 CACNA1A Synonymous SNV E292E 0.047 0.031 0.044 24 55 12 0.062 13 2 0 0 2 Benign 2.333 30557 chr19 11557093 11557093 G A rs373431632 PRKCSH Synonymous SNV S230S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 5.571 30558 chr7 143771937 143771937 G C rs2961135 OR2A25 Nonsynonymous SNV A209P 0.514 0.557 0.565 188 604 214 0.482 166 158 61 42 42 0.084 30559 chr19 16872940 16872940 G A rs773852 NWD1 Synonymous SNV L502L 0.48 0.492 0.418 178 563 189 0.456 123 138 43 29 44 6.987 30560 chr19 11598240 11598240 G A rs36103734 ZNF653 Synonymous SNV P346P 0.014 0.008 0.01 6 16 3 0.015 3 0 0 0 0 3.221 30561 chr7 143792991 143792991 G A rs34947817 OR2A12 Nonsynonymous SNV S264N 0.155 0.201 0.163 51 182 77 0.131 48 13 8 4 0 3.114 30562 chr19 15198606 15198606 C T rs73008812 OR1I1 Nonsynonymous SNV H244Y 0.141 0.172 0.153 45 165 66 0.115 45 10 11 2 1 25 30563 chr19 11598483 11598483 T C rs311805 ZNF653 Synonymous SNV P265P 0.108 0.109 0.099 43 127 42 0.11 29 9 0 2 1 0.011 30564 chr19 16918720 16918720 G A rs138264504 NWD1 Nonsynonymous SNV V1148M 0.014 0.018 0.01 6 16 7 0.015 3 1 0 0 0 12.83 30565 chr7 143806688 143806688 C A rs10230228 OR2A2 Nonsynonymous SNV Q5K 0.155 0.198 0.163 51 182 76 0.131 48 14 7 4 0 17.27 30566 chr19 15198751 15198751 T C rs16980312 OR1I1 Nonsynonymous SNV I292T 0.141 0.172 0.153 45 165 66 0.115 45 10 11 2 1 18.52 30567 chr7 100551502 100551502 A C rs28515787 MUC3A Nonsynonymous SNV I695L 0.101 0.104 0.102 40 119 40 0.103 30 0 0 0 0 0.033 30568 chr7 143807304 143807304 T C rs10252253 OR2A2 Nonsynonymous SNV L210P 0.155 0.198 0.163 51 182 76 0.131 48 14 7 4 0 22.5 30569 chr19 15198851 15198851 A T rs16980313 OR1I1 Synonymous SNV P325P 0.141 0.172 0.153 45 165 66 0.115 45 10 11 2 1 0.004 30570 chr7 143807569 143807569 C T rs117883393 OR2A2 Synonymous SNV G298G 0.014 0.008 0.017 10 17 3 0.026 5 1 0 0 1 10.93 30571 chr19 15220850 15220850 G A rs2240297 SYDE1 Nonsynonymous SNV A189T 0.126 0.161 0.092 46 148 62 0.118 27 14 13 1 4 0.059 30572 chr7 143826603 143826603 G T rs2961160 OR2A14 Nonsynonymous SNV S133I 0.548 0.568 0.592 202 643 218 0.518 174 173 60 49 51 5.322 30573 chr19 16980668 16980668 C T rs117307745 SIN3B Nonsynonymous SNV P325L 0.018 0.034 0.007 10 21 13 0.026 2 1 0 0 0 4.949 30574 chr18 677834 677834 C T rs753076959 ENOSF1 Synonymous SNV A290A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 30575 chr19 17001203 17001203 C T rs2227376 F2RL3 Nonsynonymous SNV P310L 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 19.92 30576 chr7 143826697 143826697 C G rs2961161 OR2A14 Nonsynonymous SNV S164R 0.55 0.568 0.588 202 646 218 0.518 173 176 60 49 51 0.02 30577 chr19 15229993 15229993 A G rs1131177 ILVBL Synonymous SNV D345D 0.163 0.208 0.15 63 191 80 0.162 44 15 15 1 3 3.226 30578 chr19 17004049 17004049 T C rs1054533 CPAMD8 Nonsynonymous SNV Q1843R 0.299 0.286 0.289 121 351 110 0.31 85 62 16 10 19 0.001 30579 chr7 143826730 143826732 CTT - rs34602346 OR2A14 F177del 0.547 0.565 0.585 202 642 217 0.518 172 172 59 49 51 30580 chr19 12460600 12460600 T C rs147003075 ZNF442 Nonsynonymous SNV H531R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.06 30581 chr7 144095600 144095600 A G rs2699503 NOBOX Nonsynonymous SNV F517L 0.624 0.581 0.503 229 732 223 0.587 148 219 66 56 68 Benign 23.6 30582 chr19 14016774 14016774 G A rs3745457 C19orf57 Synonymous SNV F50F 0.22 0.247 0 76 258 95 0.195 0 24 11 0 7 5.895 30583 chr19 14016833 14016833 A G rs3745456 C19orf57 Nonsynonymous SNV C31R 0.22 0.247 0 76 258 95 0.195 0 24 11 0 7 4.985 30584 chr19 1250397 1250397 C T rs3746107 MIDN Synonymous SNV A34A 0.022 0.023 0.01 4 26 9 0.01 3 0 0 0 0 12.37 30585 chr7 144098992 144098992 G A rs727714 NOBOX Synonymous SNV L88L 0.63 0.604 0.65 230 740 232 0.59 191 223 69 63 68 Benign 0.171 30586 chr19 17008607 17008607 C G rs144048982 CPAMD8 Nonsynonymous SNV E1654Q 0.017 0.023 0.014 9 20 9 0.023 4 1 0 0 0 Likely benign 23.6 30587 chr19 1255002 1255002 C T rs146446826 MIDN Synonymous SNV G266G 0.009 0.013 0 1 11 5 0.003 0 0 0 0 0 19.18 30588 chr7 144107255 144107255 A G rs138463368 NOBOX Synonymous SNV D22D 0.008 0.005 0.014 4 9 2 0.01 4 0 0 0 0 Benign/Likely benign 0.022 30589 chr7 144364829 144364829 C T rs57405539 TPK1 Nonsynonymous SNV G54R 0.06 0.086 0.065 19 71 33 0.049 19 2 1 1 0 0.886 30590 chr19 17088319 17088319 G T rs3745335 CPAMD8 Nonsynonymous SNV D539E 0.235 0.24 0.282 116 276 92 0.297 83 33 13 12 17 0.011 30591 chr7 144364877 144364877 - T rs146277351 TPK1 Frameshift insertion D38Rfs*24 0.06 0.086 0.065 19 71 33 0.049 19 2 1 1 0 30592 chr18 6985270 6985270 C T rs11664063 LAMA1 Nonsynonymous SNV A1876T 0.223 0.302 0.248 90 262 116 0.231 73 34 14 9 7 11.36 30593 chr19 1440068 1440068 G C rs201657403 RPS15 Nonsynonymous SNV R47P 0.039 0.042 0 5 46 16 0.013 0 0 0 0 0 Benign 17 30594 chr7 144364918 144364918 G T rs67644764 TPK1 Stop gain S24X 0.075 0.094 0.075 22 88 36 0.056 22 3 1 2 0 0.929 30595 chr7 148801091 148801091 G A rs11525060 ZNF425 Synonymous SNV N624N 0.635 0.625 0.612 232 745 240 0.595 180 234 80 55 68 5.653 30596 chr19 1081834 1081834 G A rs147170934 ARHGAP45 Synonymous SNV R432R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.71 30597 chr19 15350594 15350594 G A rs11669901 BRD4 Synonymous SNV L1107L 0.204 0.172 0.218 98 239 66 0.251 64 22 5 10 9 12.25 30598 chr7 148801658 148801658 C T rs1137432 ZNF425 Synonymous SNV Q435Q 0.637 0.625 0.602 228 748 240 0.585 177 236 80 52 66 7.338 30599 chr7 100551711 100551711 T C rs113829577 MUC3A Synonymous SNV F764F 0.212 0.247 0.211 90 249 95 0.231 62 0 0 0 0 0.052 30600 chr19 14582539 14582539 C T rs8598 PKN1 Synonymous SNV L924L 0.282 0.255 0.286 101 331 98 0.259 84 47 11 9 15 7.562 30601 chr7 148851213 148851213 G A rs917124 ZNF398 Synonymous SNV L67L 0.701 0.69 0.711 265 823 265 0.679 209 291 98 73 89 8.514 30602 chr18 6986259 6986259 G A rs62081531 LAMA1 Synonymous SNV H1752H 0.229 0.307 0.255 91 269 118 0.233 75 36 14 9 7 6.58 30603 chr19 10939792 10939792 T C rs2229920 DNM2 Synonymous SNV A709A 0.311 0.328 0.31 110 365 126 0.282 91 62 18 13 17 Benign/Likely benign 0.37 30604 chr19 17108135 17108135 C T rs3745340 CPAMD8 Nonsynonymous SNV R294Q 0.349 0.349 0.374 168 410 134 0.431 110 74 21 22 39 17.62 30605 chr19 14583582 14583582 C T rs11668633 PTGER1 Synonymous SNV L333L 0.28 0.247 0.282 103 329 95 0.264 83 44 12 9 16 15.22 30606 chr7 148950895 148950895 C T rs34185245 ZNF212 Nonsynonymous SNV H293Y 0.027 0.01 0.037 8 32 4 0.021 11 1 0 0 0 0.025 30607 chr19 15648715 15648715 G A rs11666601 CYP4F22 Synonymous SNV A194A 0.118 0.138 0.088 41 139 53 0.105 26 8 2 1 2 Benign 14.14 30608 chr7 148990933 148990933 G A rs6977581 LOC155060 0.077 0.065 0.105 24 90 25 0.062 31 4 1 2 0 6.321 30609 chr19 1467803 1467803 C T rs61749994 APC2 Synonymous SNV P1500P 0.075 0.073 0.058 28 88 28 0.072 17 2 3 0 1 12.23 30610 chr19 12786370 12786370 G A rs34373915 WDR83 Nonsynonymous SNV G278S 0.011 0 0.003 4 13 0 0.01 1 0 0 0 0 2.18 30611 chr7 149152770 149152770 A G rs3735319 ZNF777 Nonsynonymous SNV V115A 0.572 0.581 0.619 204 671 223 0.523 182 196 69 58 57 13.28 30612 chr19 17170885 17170885 C T rs1130222 HAUS8 Nonsynonymous SNV G82R 0.496 0.487 0.483 175 582 187 0.449 142 147 45 34 41 23.3 30613 chr19 12882008 12882008 T C rs570747526 HOOK2 Synonymous SNV Q242Q 0.003 0 0 1 4 0 0.003 0 1 0 0 0 0.827 30614 chr19 1469030 1469030 A G rs265278 APC2 Synonymous SNV K1909K 0.078 0.076 0.075 29 91 29 0.074 22 2 3 2 1 0.22 30615 chr7 149152906 149152906 G A rs3735318 ZNF777 Nonsynonymous SNV R70W 0.563 0.555 0.592 208 661 213 0.533 174 181 59 52 52 26.4 30616 chr19 1469530 1469530 C G rs166452 APC2 Nonsynonymous SNV T2076S 0.078 0.068 0.065 27 91 26 0.069 19 2 3 1 1 10.86 30617 chr1 158669662 158669662 G A rs41273535 OR6K2 Synonymous SNV L261L 0.004 0.01 0.01 2 5 4 0.005 3 0 0 0 0 3.259 30618 chr7 149476666 149476666 - C rs397826817 SSPO 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 30619 chr7 149484798 149484798 C T rs62490656 SSPO 0.279 0.297 0.255 110 327 114 0.282 75 33 18 11 13 5.018 30620 chr7 149506211 149506211 - C rs397815440 SSPO 1 1 0.98 389 1174 384 0.997 288 587 192 143 194 30621 chr19 11222300 11222300 G A rs11669576 LDLR Nonsynonymous SNV A223T 0.03 0.029 0.061 14 35 11 0.036 18 0 1 0 1 Benign/Likely benign 1.678 30622 chr18 56202470 56202470 G A rs55656447 ALPK2 Nonsynonymous SNV A1650V 0.021 0.029 0.014 12 25 11 0.031 4 0 0 0 0 13.89 30623 chr7 149509419 149509419 C T rs740109 SSPO 0.141 0.133 0.109 66 166 51 0.169 32 11 3 5 8 3.067 30624 chr7 149511902 149511902 C T rs62492762 SSPO 0.133 0.115 0.133 58 156 44 0.149 39 7 2 3 6 9.978 30625 chr7 149511985 149511985 A G rs10952230 SSPO 0.877 0.865 0.847 335 1030 332 0.859 249 451 145 105 143 12.84 30626 chr7 149513077 149513077 G C rs2240362 SSPO 0.133 0.115 0.126 57 156 44 0.146 37 7 2 3 6 2.839 30627 chr19 1483673 1483673 G A rs11878809 PCSK4 Nonsynonymous SNV A456V 0.052 0.057 0.071 27 61 22 0.069 21 3 1 0 0 0.131 30628 chr7 149513560 149513560 T C rs12674102 SSPO 0.313 0.281 0.279 131 367 108 0.336 82 59 14 11 27 8.445 30629 chr19 1127615 1127615 G C rs2074915 SBNO2 Synonymous SNV S86S 0.233 0.214 0.231 71 274 82 0.182 68 32 3 9 3 0.402 30630 chr7 149515189 149515189 A - rs60594151 SSPO 0.304 0.276 0.259 130 357 106 0.333 76 56 13 10 27 30631 chr19 1127720 1127720 G A rs2074916 SBNO2 Synonymous SNV S51S 0.233 0.211 0.231 71 273 81 0.182 68 32 3 9 3 7.37 30632 chr18 72021145 72021145 T A rs8093952 C18orf63 Nonsynonymous SNV F548Y 0.091 0.089 0.092 31 107 34 0.079 27 3 1 1 2 1.644 30633 chr19 15852242 15852242 C A rs2240227 OR10H3 Nonsynonymous SNV L14I 0.026 0.036 0.037 13 30 14 0.033 11 0 0 0 0 23.3 30634 chr7 149515754 149515754 A G rs740113 SSPO 0.3 0.266 0.286 129 352 102 0.331 84 69 19 12 29 0.975 30635 chr7 149516486 149516486 A G rs6464034 SSPO 0.335 0.315 0.276 139 393 121 0.356 81 71 21 11 29 9.176 30636 chr18 67687989 67687989 G A rs117183725 RTTN Synonymous SNV A1093A 0.019 0.021 0.007 3 22 8 0.008 2 0 0 0 0 Benign 9.401 30637 chr7 149517978 149517978 G T rs12536873 SSPO 0.132 0.115 0.119 57 155 44 0.146 35 8 2 3 6 7.945 30638 chr7 149518148 149518148 A G rs10233245 SSPO 0.322 0.302 0.282 134 378 116 0.344 83 64 16 10 29 7.92 30639 chr7 149518961 149518961 T C rs1008335 SSPO 0.333 0.318 0.279 136 391 122 0.349 82 70 22 11 29 10.35 30640 chr18 67833306 67833306 T C rs117502718 RTTN Nonsynonymous SNV I641V 0.019 0.021 0.007 3 22 8 0.008 2 0 0 0 0 Benign 0.153 30641 chr7 149522366 149522366 T G rs2074697 SSPO 0.336 0.315 0.303 138 394 121 0.354 89 71 21 11 29 6.792 30642 chr19 17389704 17389704 G A rs8170 BABAM1 Synonymous SNV K204K 0.172 0.159 0.15 63 202 61 0.162 44 21 5 3 5 13.6 30643 chr18 72114490 72114490 G A rs3764507 DIPK1C Nonsynonymous SNV A76V 0.012 0.013 0.01 6 14 5 0.015 3 0 0 0 0 0.017 30644 chr7 149523195 149523195 C G rs78492471 SSPO 0.158 0.169 0.133 59 185 65 0.151 39 13 7 2 4 5.292 30645 chr19 17393015 17393015 C T rs1864116 ANKLE1 Nonsynonymous SNV A60V 0.651 0.615 0.378 259 764 236 0.664 111 344 99 49 114 16.34 30646 chr18 72168608 72168608 G A rs2303463 CNDP2 Synonymous SNV P35P 0.21 0.156 0.228 58 247 60 0.149 67 25 5 9 9 11.53 30647 chr1 15905501 15905501 G A rs41270261 AGMAT Synonymous SNV T191T 0.143 0.154 0.122 72 168 59 0.185 36 8 6 2 7 11.04 30648 chr7 149523277 149523277 A G rs1004200 SSPO 0.332 0.313 0.306 134 390 120 0.344 90 74 21 12 28 6.15 30649 chr7 149523584 149523584 C T rs62492839 SSPO 0.124 0.112 0.099 52 146 43 0.133 29 8 2 3 5 8.187 30650 chr19 17393504 17393504 G C rs1864113 ANKLE1 Synonymous SNV A74A 0.782 0.755 0.728 303 918 290 0.777 214 371 112 81 116 12.79 30651 chr18 72176083 72176083 T C rs2278161 CNDP2 Nonsynonymous SNV Y126H 0.23 0.193 0.224 66 270 74 0.169 66 26 8 9 10 25.1 30652 chr19 17394504 17394504 A C rs891017 ANKLE1 Nonsynonymous SNV T300P 0.782 0.758 0.748 303 918 291 0.777 220 371 112 81 116 0.293 30653 chr7 149556518 149556518 C T rs4725833 ZNF862 Synonymous SNV A375A 0.624 0.615 0.592 249 732 236 0.638 174 238 73 47 79 13.94 30654 chr18 72178161 72178161 T C rs2278159 CNDP2 Synonymous SNV Y106Y 0.213 0.164 0.221 58 250 63 0.149 65 24 6 8 9 0.076 30655 chr19 11486501 11486501 T G SWSAP1 Nonsynonymous SNV W188G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 30656 chr7 149558409 149558409 G C rs2240361 ZNF862 Synonymous SNV L720L 0.613 0.591 0.592 253 720 227 0.649 174 228 68 48 84 0.108 30657 chr19 13910539 13910539 G A rs28480458 ZSWIM4 Synonymous SNV E53E 0.079 0.12 0.054 32 93 46 0.082 16 5 1 1 0 10.02 30658 chr19 17395003 17395003 A G rs11086065 ANKLE1 Nonsynonymous SNV Q398R 0.782 0.758 0.748 302 918 291 0.774 220 371 112 81 116 0.001 30659 chr7 149559273 149559273 C T rs2074700 ZNF862 Synonymous SNV L1008L 0.595 0.565 0.585 249 698 217 0.638 172 217 63 46 80 7.219 30660 chr19 14042613 14042613 C T rs1013721891 PODNL1 Synonymous SNV P561P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 30661 chr1 159166865 159166865 G C rs201892969 CADM3-AS1 0.012 0.008 0.01 4 14 3 0.01 3 0 0 0 0 1.096 30662 chr7 149559465 149559465 C T rs2074701 ZNF862 Synonymous SNV G1072G 0.606 0.576 0.592 250 712 221 0.641 174 228 65 47 81 12.19 30663 chr19 14065341 14065341 T C rs10409785 DCAF15 Synonymous SNV H78H 0.225 0.208 0.235 80 264 80 0.205 69 36 5 9 9 0.046 30664 chr19 17395055 17395055 C G rs11882562 ANKLE1 Synonymous SNV T415T 0.775 0.747 0.748 301 910 287 0.772 220 371 112 81 116 1.948 30665 chr7 150093701 150093701 A C rs940453 ZNF775 Synonymous SNV I44I 0.88 0.891 0.861 334 1033 342 0.856 253 461 154 108 144 0.003 30666 chr19 14077327 14077327 T C rs143203128 RFX1 Nonsynonymous SNV M623V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.336 30667 chr1 159175943 159175943 G A rs36007769 ACKR1 Synonymous SNV G240G 0.008 0.01 0.024 9 9 4 0.023 7 0 0 0 0 Benign 0.33 30668 chr19 11687195 11687195 C T rs2229531 ACP5 Nonsynonymous SNV V200M 0.112 0.141 0.119 60 132 54 0.154 35 8 2 3 6 Benign 24.3 30669 chr19 14952017 14952017 T A rs11880955 OR7A10 Nonsynonymous SNV I225L 0.157 0.12 0.173 47 184 46 0.121 51 13 3 5 3 15.04 30670 chr19 17396549 17396549 T C rs751599 ANKLE1 Synonymous SNV G495G 0.782 0.758 0.748 303 918 291 0.777 220 371 112 81 116 0.079 30671 chr7 150094851 150094851 A G rs13225910 ZNF775 Nonsynonymous SNV T428A 0.478 0.492 0.459 189 561 189 0.485 135 133 49 34 47 0.001 30672 chr19 17397244 17397244 C T rs10425939 ANKLE1 Nonsynonymous SNV A505V 0.173 0.159 0.119 63 203 61 0.162 35 21 5 3 5 14.31 30673 chr19 14952238 14952238 A G rs12972670 OR7A10 Nonsynonymous SNV M151T 0.156 0.12 0.173 47 183 46 0.121 51 13 3 5 3 0.573 30674 chr7 150094853 150094853 G A rs7780011 ZNF775 Synonymous SNV T428T 0.401 0.396 0.395 142 471 152 0.364 116 95 32 20 28 0.259 30675 chr19 17397483 17397483 G T rs367668712 ANKLE1 Nonsynonymous SNV V585L 0.233 0.206 0.231 84 273 79 0.215 68 16 3 2 4 8.223 30676 chr7 150163837 150163837 A G rs2140595 GIMAP8 Synonymous SNV G17G 0.442 0.44 0.381 180 519 169 0.462 112 112 40 20 38 0.383 30677 chr19 14952560 14952560 G T rs12985894 OR7A10 Nonsynonymous SNV L44I 0.155 0.12 0.173 47 182 46 0.121 51 13 3 5 3 17.81 30678 chr19 14165204 14165204 G C rs75389771 PALM3 Nonsynonymous SNV T361R 0.089 0.07 0.085 37 104 27 0.095 25 3 2 1 2 21.6 30679 chr19 17397488 17397501 TGTGTGTGTGTGTT - rs770169539 ANKLE1 L591Vfs*29 0.151 0.146 0.133 58 177 56 0.149 39 0 1 0 0 30680 chr7 150217248 150217248 A G rs3735081 GIMAP7 Synonymous SNV V62V 0.592 0.568 0.592 218 695 218 0.559 174 200 61 49 58 0.984 30681 chr19 16436569 16436569 G A rs45586037 KLF2 Synonymous SNV G206G 0.018 0.018 0.003 8 21 7 0.021 1 0 0 0 0 9.153 30682 chr19 17397493 17397493 G T rs371454519 ANKLE1 Nonsynonymous SNV C588F 0.086 0.073 0.109 26 101 28 0.067 32 2 0 2 1 Benign 3.732 30683 chr7 150324825 150324825 C T rs3735084 GIMAP6 Synonymous SNV L357L 0.296 0.315 0.289 112 347 121 0.287 85 55 24 13 11 7.066 30684 chr19 16547778 16547778 C T rs33914440 EPS15L1 Synonymous SNV P114P 0.022 0.023 0.014 8 26 9 0.021 4 1 0 0 0 18.2 30685 chr7 150389677 150389677 G C rs6952002 GIMAP2 Synonymous SNV L101L 0.307 0.31 0.303 123 361 119 0.315 89 55 23 14 12 8.197 30686 chr19 17397498 17397501 TGTT - rs1060499840 ANKLE1 L591Vfs*17 0.18 0.188 0.173 78 211 72 0.2 51 1 0 3 0 30687 chr1 159810939 159810939 C T rs41264825 SNHG28 0.034 0.047 0.048 14 40 18 0.036 14 0 0 1 0 15.71 30688 chr18 72913537 72913537 C A rs17056661 ZADH2 Nonsynonymous SNV C200F 0.049 0.029 0.034 14 57 11 0.036 10 1 0 0 0 0.012 30689 chr19 17417080 17417080 C T rs11548548 MRPL34 Synonymous SNV N57N 0.098 0.076 0.129 29 115 29 0.074 38 9 1 3 2 8.422 30690 chr7 150439500 150439500 C T rs759011 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV A91A 0.29 0.271 0.293 120 340 104 0.308 86 46 11 11 19 12.01 30691 chr19 17435851 17435851 G T rs755124 ANO8 Synonymous SNV A1002A 0.101 0.073 0.129 29 118 28 0.074 38 9 1 3 2 4.701 30692 chr7 150440043 150440043 C T rs1046355 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV L272L 0.288 0.271 0.293 121 338 104 0.31 86 46 11 11 20 7.316 30693 chr19 17435884 17435884 T C rs755123 ANO8 Synonymous SNV S991S 0.665 0.651 0.605 253 781 250 0.649 178 266 81 51 82 0.013 30694 chr7 150490376 150490376 C T rs2072443 TMEM176B Nonsynonymous SNV A97T 0.432 0.477 0.449 149 507 183 0.382 132 124 45 24 23 24.8 30695 chr19 17438642 17438642 A G rs8102944 ANO8 Synonymous SNV V758V 0.664 0.651 0.605 253 780 250 0.649 178 266 81 51 82 0.02 30696 chr19 17439320 17439320 C T rs76655932 ANO8 Nonsynonymous SNV R626Q 0.1 0.073 0.105 28 117 28 0.072 31 9 1 3 2 19.21 30697 chr7 150491084 150491084 T G rs3173833 TMEM176B Nonsynonymous SNV S94R 0.603 0.635 0.622 209 708 244 0.536 183 220 76 57 54 0.006 30698 chr19 17441909 17441909 T G rs61734355 ANO8 Synonymous SNV T273T 0.101 0.073 0.133 30 118 28 0.077 39 9 1 3 2 0.111 30699 chr7 150498809 150498809 G A rs1127958 TMEM176A Synonymous SNV S57S 0.321 0.305 0.279 137 377 117 0.351 82 77 14 11 19 12.13 30700 chr19 17448961 17448961 A C rs1864112 GTPBP3 Synonymous SNV T66T 0.664 0.646 0.602 251 779 248 0.644 177 265 80 51 81 Benign 0.002 30701 chr7 150500520 150500520 C T rs741066 TMEM176A Synonymous SNV Y106Y 0.348 0.336 0.279 146 409 129 0.374 82 77 14 11 19 3.941 30702 chr19 17450016 17450016 T C rs3810206 GTPBP3 Nonsynonymous SNV V282A 0.664 0.654 0.599 252 780 251 0.646 176 265 83 51 82 Benign 10.29 30703 chr7 150500729 150500729 A G rs741064 TMEM176A Nonsynonymous SNV T122A 0.854 0.862 0.827 341 1003 331 0.874 243 426 142 101 147 0.002 30704 chr19 16860882 16860882 G A rs61746179 NWD1 Nonsynonymous SNV D271N 0.03 0.026 0.027 19 35 10 0.049 8 2 0 0 0 0.08 30705 chr7 150501455 150501455 G T rs10378 TMEM176A Nonsynonymous SNV L187F 0.227 0.227 0.214 83 267 87 0.213 63 29 8 4 7 20.1 30706 chr19 16870161 16870161 T C rs1017314653 NWD1 Nonsynonymous SNV V426A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.63 30707 chr7 100552673 100552673 C T rs200599465 MUC3A Nonsynonymous SNV T1085I 0.123 0.135 0.099 52 144 52 0.133 29 0 0 0 0 7.857 30708 chr19 17547702 17547702 G A rs77119740 TMEM221 Synonymous SNV I147I 0.009 0.021 0.017 5 11 8 0.013 5 0 0 0 0 16.62 30709 chr7 150501516 150501516 A G rs9088 TMEM176A Nonsynonymous SNV T208A 0.756 0.747 0.69 313 887 287 0.803 203 332 108 70 124 0.001 30710 chr19 15224482 15224482 G C rs139561208 SYDE1 Nonsynonymous SNV G572A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.535 30711 chr7 150553605 150553605 C T rs10156191 AOC1 Nonsynonymous SNV T16M 0.261 0.253 0.197 106 307 97 0.272 58 44 10 3 11 6.634 30712 chr18 74616374 74616374 A G rs3794873 ZNF236 Nonsynonymous SNV S645G 0.02 0.021 0.02 6 23 8 0.015 6 0 1 0 0 19.55 30713 chr1 16044401 16044401 G A rs16851970 PLEKHM2 Synonymous SNV L97L 0.213 0.232 0.17 92 250 89 0.236 50 25 12 4 11 12.76 30714 chr19 17013484 17013484 T C rs145937344 CPAMD8 Nonsynonymous SNV K1554E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.742 30715 chr7 150554887 150554887 G A rs2071514 AOC1 Synonymous SNV A443A 0.188 0.216 0.187 78 221 83 0.2 55 22 9 5 5 3.783 30716 chr1 16045087 16045087 C T rs201860640 PLEKHM2 Synonymous SNV S144S 0.004 0.008 0.014 3 5 3 0.008 4 0 0 0 0 Benign 19.57 30717 chr7 150555915 150555915 A G rs10893 AOC1 Synonymous SNV P545P 0.293 0.32 0.299 129 344 123 0.331 88 50 20 16 18 0.593 30718 chr1 160535493 160535493 T A rs141227872 CD84 Nonsynonymous SNV N30I 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 10.06 30719 chr7 150555968 150555968 G A rs374705415 AOC1 Nonsynonymous SNV R563H 0 0 0 0 0 0 0 0 0 0 0 0 22.8 30720 chr19 1231113 1231113 G A CBARP Nonsynonymous SNV P381S 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 24.6 30721 chr7 150556002 150556002 T C rs1049748 AOC1 Synonymous SNV P574P 0.431 0.461 0.439 158 506 177 0.405 129 104 43 26 26 0.322 30722 chr19 17654181 17654181 C T rs45532635 NIBAN3 Nonsynonymous SNV T219M 0.13 0.138 0.143 59 153 53 0.151 42 11 6 5 3 10.76 30723 chr1 16069644 16069644 C T rs11584945 TMEM82 Synonymous SNV L97L 0.34 0.344 0.33 108 399 132 0.277 97 80 25 18 16 18.14 30724 chr7 150556055 150556055 C G rs6943147 AOC1 Nonsynonymous SNV T592R 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 22.6 30725 chr1 160786472 160786472 C T rs114803747 LY9 Synonymous SNV D387D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.316 30726 chr19 17660300 17660300 G A rs11666267 NIBAN3 Nonsynonymous SNV G329S 0.663 0.596 0.551 263 778 229 0.674 162 270 66 41 90 10.11 30727 chr18 72114456 72114456 T C DIPK1C Synonymous SNV G87G 0.006 0 0 0 7 0 0 0 0 0 0 0 0.274 30728 chr7 150556056 150556056 G C rs6943420 AOC1 Synonymous SNV T592T 1 0.997 0.997 389 1174 383 0.997 293 587 191 146 194 9.787 30729 chr19 17716896 17716896 G T rs3746198 UNC13A Synonymous SNV S1693S 0.095 0.104 0.088 47 112 40 0.121 26 2 6 0 2 14.07 30730 chr7 150557622 150557622 G A rs12179 AOC1 Synonymous SNV S630S 0.298 0.318 0.289 128 350 122 0.328 85 52 19 13 18 10.76 30731 chr18 59195229 59195229 C T rs34784622 CDH20 Synonymous SNV Y349Y 0.022 0.036 0.017 6 26 14 0.015 5 0 0 0 0 8.17 30732 chr19 17741047 17741047 A G rs10413821 UNC13A Synonymous SNV V1192V 0.394 0.38 0.391 164 462 146 0.421 115 82 27 22 33 3.104 30733 chr18 76752544 76752544 G T rs186555722 SALL3 Nonsynonymous SNV A185S 0.023 0.016 0.031 7 27 6 0.018 9 0 0 1 0 8.449 30734 chr7 150557665 150557665 C G rs1049793 AOC1 Nonsynonymous SNV H645D 0.298 0.318 0.293 128 350 122 0.328 86 52 19 13 18 10.09 30735 chr18 76752545 76752545 C T rs191414199 SALL3 Nonsynonymous SNV A185V 0.023 0.016 0.031 7 27 6 0.018 9 0 0 1 0 10.86 30736 chr7 150648198 150648198 A G rs1137617 KCNH2 Synonymous SNV Y312Y 0.619 0.607 0.616 227 727 233 0.582 181 230 71 62 61 Benign 0.023 30737 chr19 15760881 15760881 C A rs1805040 CYP4F3 Nonsynonymous SNV A269D 0.216 0.219 0.184 79 253 84 0.203 54 30 9 5 7 9.903 30738 chr18 76752978 76752978 G A rs137944092 SALL3 Synonymous SNV P329P 0.019 0.016 0.007 3 22 6 0.008 2 0 0 1 0 7.457 30739 chr7 150648789 150648789 T C rs1805121 KCNH2 Synonymous SNV L224L 0.366 0.352 0.391 138 430 135 0.354 115 94 23 24 24 Benign 0.901 30740 chr18 72343181 72343181 A G rs3794942 ZNF407 Nonsynonymous SNV N69S 0.066 0.057 0.061 18 78 22 0.046 18 2 0 0 0 Likely benign 0.002 30741 chr7 150649531 150649531 G A rs1805120 KCNH2 Synonymous SNV F173F 0.269 0.266 0.269 102 316 102 0.262 79 58 14 14 15 Benign 10.85 30742 chr18 76754367 76754367 C T rs2927258 SALL3 Synonymous SNV T792T 0.037 0.018 0.007 15 44 7 0.038 2 3 0 0 0 0.073 30743 chr19 15760895 15760895 C T rs141338088 CYP4F3 Nonsynonymous SNV R274W 0.003 0 0 0 3 0 0 0 0 0 0 0 32 30744 chr7 150649603 150649603 G A rs740952 KCNH2 Synonymous SNV I149I 0.271 0.271 0.272 103 318 104 0.264 80 59 14 14 16 Benign 14.71 30745 chr18 76754549 76754549 T C rs35578880 SALL3 Nonsynonymous SNV V853A 0.024 0.016 0.031 8 28 6 0.021 9 0 0 1 0 0.349 30746 chr19 17837425 17837425 C G rs17710707 MAP1S Nonsynonymous SNV S385C 0.142 0.177 0.139 63 167 68 0.162 41 13 12 4 6 23.3 30747 chr19 12784069 12784069 G A rs199685737 WDR83 Nonsynonymous SNV R246H 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 24.9 30748 chr1 161049499 161049499 G A rs78105657 NECTIN4 Nonsynonymous SNV P107L 0.001 0.008 0.007 3 1 3 0.008 2 0 0 0 0 Likely benign 20.4 30749 chr7 150695726 150695726 T C rs1549758 NOS3 Synonymous SNV D258D 0.706 0.708 0.728 283 829 272 0.726 214 292 97 79 104 Benign 0.072 30750 chr18 76754757 76754757 G C rs61747126 SALL3 Synonymous SNV L922L 0.024 0.016 0.031 8 28 6 0.021 9 0 0 1 0 0.003 30751 chr7 150696111 150696111 T G rs1799983 NOS3 Nonsynonymous SNV D298E 0.707 0.703 0.684 284 830 270 0.728 201 293 97 71 104 Benign 0.348 30752 chr19 12877042 12877042 C T rs35337531 HOOK2 Synonymous SNV L462L 0.029 0.01 0.014 19 34 4 0.049 4 1 0 0 1 17.04 30753 chr19 12936617 12936617 C G rs13628 RTBDN Nonsynonymous SNV G198A 0.031 0.021 0.017 14 36 8 0.036 5 2 0 0 0 8.345 30754 chr7 150761314 150761314 G A rs2303929 SLC4A2 Nonsynonymous SNV G17E 0.259 0.203 0.184 107 304 78 0.274 54 34 5 5 16 8.12 30755 chr1 161088583 161088583 T G rs41270017 NIT1 Nonsynonymous SNV F4V 0.046 0.055 0.048 28 54 21 0.072 14 2 1 0 0 21 30756 chr19 17392894 17392894 G A rs8100241 ANKLE1 Nonsynonymous SNV A20T 0.509 0.492 0.408 209 597 189 0.536 120 172 52 30 52 24.7 30757 chr1 161094190 161094190 A G rs1135783 DEDD Synonymous SNV H21H 0.046 0.055 0.048 28 54 21 0.072 14 2 1 0 0 0.006 30758 chr7 150763655 150763655 T A rs2229549 SLC4A2 Synonymous SNV T201T 0.608 0.581 0.456 235 714 223 0.603 134 230 66 50 76 8.524 30759 chr1 161123878 161123878 C A UFC1 Synonymous SNV R31R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 30760 chr1 161134650 161134650 A G rs773005306 USP21 Synonymous SNV R499R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.951 30761 chr7 150765065 150765065 T C rs2229550 SLC4A2 Synonymous SNV T348T 0.807 0.784 0.83 303 948 301 0.777 244 380 117 108 117 5.961 30762 chr1 161139738 161139738 G A rs36013429 PPOX Nonsynonymous SNV R271H 0.026 0.029 0.027 16 30 11 0.041 8 1 0 0 0 Likely benign 11.89 30763 chr19 17393530 17393530 T A rs8108174 ANKLE1 Nonsynonymous SNV L83Q 0.525 0.529 0.466 214 616 203 0.549 137 172 52 33 53 26 30764 chr18 60206950 60206950 G A rs371137258 ZCCHC2 Nonsynonymous SNV E326K 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 22.4 30765 chr7 150768786 150768786 G A rs2303937 SLC4A2 Synonymous SNV T725T 0.463 0.385 0.48 171 543 148 0.438 141 125 27 34 41 10.11 30766 chr19 1790803 1790803 G T rs750854961 ATP8B3 Stop gain C740X 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 36 30767 chr1 161143801 161143801 G A rs3813619 B4GALT3 Synonymous SNV N176N 0.032 0.036 0.027 18 38 14 0.046 8 2 1 0 0 9.897 30768 chr7 150916228 150916228 G A rs6949587 ABCF2, LOC114483834 Synonymous SNV Y313Y 0.41 0.409 0.408 145 481 157 0.372 120 102 27 23 21 9.171 30769 chr19 17394124 17394124 T G rs2363956 ANKLE1 Nonsynonymous SNV L173W 0.525 0.529 0.486 215 616 203 0.551 143 172 52 33 53 22.9 30770 chr1 161145005 161145005 C T rs3813620 B4GALT3 Synonymous SNV S89S 0.046 0.055 0.044 28 54 21 0.072 13 2 1 0 0 16.67 30771 chr7 150921950 150921950 A G rs6464133 ABCF2, LOC114483834 Synonymous SNV L93L 0.662 0.669 0.711 259 777 257 0.664 209 270 85 77 85 7.374 30772 chr19 15233732 15233732 G A rs59102460 ILVBL Nonsynonymous SNV A192V 0.005 0.008 0.01 4 6 3 0.01 3 0 0 0 0 26.8 30773 chr1 161161284 161161284 G C rs41270041 ADAMTS4 Nonsynonymous SNV P720A 0.06 0.065 0.048 33 70 25 0.085 14 4 1 0 0 0.016 30774 chr7 150931268 150931268 C G rs2608293 CHPF2 Synonymous SNV S57S 0.413 0.404 0.408 145 485 155 0.372 120 103 26 23 21 5.587 30775 chr19 17932138 17932138 T C rs6523 INSL3 Nonsynonymous SNV T60A 0.646 0.719 0.575 254 758 276 0.651 169 244 105 53 82 0.002 30776 chr7 150934975 150934975 C G rs2487154 CHPF2 Synonymous SNV A509A 0.409 0.404 0.408 145 480 155 0.372 120 101 26 23 21 9.166 30777 chr19 17932190 17932190 T C rs1047233 INSL3 Synonymous SNV L42L 0.387 0.427 0.354 159 454 164 0.408 104 88 38 18 29 7.735 30778 chr7 151064064 151064064 C T rs386956 NUB1 Synonymous SNV Y304Y 0.506 0.513 0.527 192 594 197 0.492 155 159 47 37 43 9.923 30779 chr1 161172233 161172233 C A rs11538340 NDUFS2 Nonsynonymous SNV P20T 0.059 0.065 0.048 33 69 25 0.085 14 4 1 0 0 Benign 13.56 30780 chr7 100647819 100647819 C T rs11766024 MUC12 Nonsynonymous SNV H4659Y 0.414 0.443 0.466 169 486 170 0.433 137 98 37 34 36 0.002 30781 chr7 151074296 151074296 A G rs2159158 NUB1 Synonymous SNV A635A 0.408 0.378 0.405 166 479 145 0.426 119 103 28 25 33 1.552 30782 chr18 74154296 74154296 C T rs12961584 ZNF516 Nonsynonymous SNV G239S 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 23.7 30783 chr19 13319691 13319691 - GGT rs768950814 CACNA1A H2220_P2221insH 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 30784 chr19 1806667 1806667 C T rs45574836 ATP8B3 Nonsynonymous SNV A160T 0.065 0.065 0.078 26 76 25 0.067 23 1 1 1 2 0.007 30785 chr7 100647875 100647875 C A rs11766048 MUC12 Synonymous SNV S4677S 0.674 0.711 0.704 246 791 273 0.631 207 259 99 70 75 11.95 30786 chr7 151078735 151078735 A G rs4141455 WDR86 Nonsynonymous SNV C182R 0.578 0.547 0.561 237 679 210 0.608 165 285 93 66 103 12.89 30787 chr1 161183516 161183516 C T rs1136207 NDUFS2 Synonymous SNV A430A 0.185 0.172 0.187 71 217 66 0.182 55 18 7 6 7 Benign 17.96 30788 chr7 100647920 100647920 A C rs11772963 MUC12 Synonymous SNV T4692T 0.496 0.513 0.551 188 582 197 0.482 162 137 52 43 44 0.002 30789 chr19 17397481 17397481 G T rs1465581 ANKLE1 Nonsynonymous SNV C584F 0.3 0.302 0.276 134 352 116 0.344 81 22 7 3 5 8.75 30790 chr7 151097323 151097323 A G rs11767693 WDR86 Synonymous SNV H56H 0.64 0.664 0.684 242 751 255 0.621 201 243 86 68 72 1.809 30791 chr1 161476204 161476204 C T rs9427397 FCGR2A Stop gain Q63X 0.221 0.182 0.201 80 260 70 0.205 59 27 8 5 8 Benign 17.28 30792 chr19 13409603 13409603 G C rs559862641 CACNA1A Synonymous SNV R949R 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 Benign/Likely benign 0.073 30793 chr19 17397500 17397501 TT - rs796716236 ANKLE1 L591Vfs*33 0.138 0.125 0.065 53 162 48 0.136 19 1 0 1 0 30794 chr7 151680072 151680072 T C rs6960270 GALNTL5 Nonsynonymous SNV C124R 0.835 0.878 0.85 313 980 337 0.803 250 410 149 106 126 24.5 30795 chr1 161476205 161476205 A G rs9427398 FCGR2A Nonsynonymous SNV Q63R 0.221 0.188 0.204 80 260 72 0.205 60 27 8 6 8 Benign 0.107 30796 chr19 17412366 17412366 G A rs11086066 ABHD8 Synonymous SNV A20A 0.292 0.299 0.214 118 343 115 0.303 63 51 12 4 21 9.156 30797 chr19 13414594 13414594 C T rs16016 CACNA1A Synonymous SNV T698T 0.108 0.112 0.105 56 127 43 0.144 31 9 3 1 3 Benign 8.792 30798 chr7 100648117 100648117 C G rs11766125 MUC12 Nonsynonymous SNV T4758R 0.496 0.513 0.551 188 582 197 0.482 162 137 52 43 44 4.316 30799 chr7 151680175 151680175 C T rs35682935 GALNTL5 Nonsynonymous SNV T158M 0.158 0.112 0.143 67 185 43 0.172 42 17 4 3 6 6.733 30800 chr19 17412399 17412399 G A rs11086067 ABHD8 Synonymous SNV I9I 0.292 0.299 0.204 118 343 115 0.303 60 51 12 4 21 12.78 30801 chr1 161654843 161654843 C G rs1256288 RPL31P11 0 0 0.697 0 0 0 0 205 0 0 87 0 5.523 30802 chr19 1533972 1533972 C G rs11084897 PLK5 Nonsynonymous SNV L253V 0.213 0.19 0.105 79 250 73 0.203 31 31 6 6 8 8.449 30803 chr7 100675376 100675376 A C rs10229731 MUC17 Nonsynonymous SNV K227Q 0.164 0.193 0.133 50 193 74 0.128 39 16 4 2 3 0.004 30804 chr18 74672741 74672741 C T rs72987221 ZNF236 Synonymous SNV A1783A 0.093 0.091 0.088 35 109 35 0.09 26 5 0 1 2 15.19 30805 chr19 1534042 1534042 T C rs10853954 PLK5 0.213 0.19 0.16 79 250 73 0.203 47 31 6 10 8 17.26 30806 chr7 151684256 151684256 A G rs61729490 GALNTL5 Nonsynonymous SNV E183G 0.124 0.115 0.16 53 146 44 0.136 47 17 2 4 3 21.8 30807 chr19 17435887 17435887 C T rs56286266 ANO8 Synonymous SNV S990S 0.316 0.323 0.262 129 371 124 0.331 77 61 16 6 26 10.2 30808 chr7 100675512 100675512 G A rs10259584 MUC17 Nonsynonymous SNV G272E 0.161 0.19 0.133 48 189 73 0.123 39 16 4 2 2 0.028 30809 chr7 151818777 151818777 T C rs967093 GALNT11 Nonsynonymous SNV W624R 0.995 1 0.997 389 1168 384 0.997 293 582 192 146 194 1.252 30810 chr7 151848538 151848538 G C rs139111507 KMT2C Nonsynonymous SNV L4219V 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 not provided 0.002 30811 chr7 100675976 100675976 G A rs56103274 MUC17 Nonsynonymous SNV A427T 0.46 0.471 0.534 177 540 181 0.454 157 122 41 35 35 0.004 30812 chr19 18191664 18191664 C G rs11086087 IL12RB1 Synonymous SNV V129V 0.165 0.177 0.146 53 194 68 0.136 43 14 6 4 2 Benign 0.232 30813 chr7 154429560 154429560 C T rs11243339 DPP6 Synonymous SNV Y155Y 0.743 0.711 0.748 284 872 273 0.728 220 333 91 84 103 14.36 30814 chr7 100676409 100676409 C T rs34834039 MUC17 Nonsynonymous SNV P571L 0.16 0.185 0.129 48 188 71 0.123 38 16 4 2 2 15.16 30815 chr7 154461112 154461112 A G rs3807218 DPP6 Synonymous SNV K177K 0.886 0.872 0.874 340 1040 335 0.872 257 460 146 113 148 4.147 30816 chr19 1397430 1397430 C T rs373479245 GAMT Synonymous SNV A213A 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Likely benign 22.2 30817 chr7 154561188 154561188 C T rs56091483 DPP6 Synonymous SNV Y208Y 0.108 0.12 0.082 26 127 46 0.067 24 6 3 1 1 7.609 30818 chr19 1398750 1398750 C T rs74253480 GAMT Synonymous SNV A245A 0.007 0.016 0.003 2 8 6 0.005 1 0 0 0 0 Benign 11.05 30819 chr7 100679752 100679752 T C rs4992072 MUC17 Synonymous SNV Y1685Y 0.151 0.18 0.126 47 177 69 0.121 37 0 0 0 0 0.003 30820 chr7 154667628 154667628 A G rs2293353 DPP6 Synonymous SNV P525P 0.494 0.471 0.446 204 580 181 0.523 131 141 42 30 58 0.003 30821 chr19 14038791 14038791 C T rs2305777 CC2D1A Nonsynonymous SNV T801M 0.194 0.216 0.224 101 228 83 0.259 66 23 6 5 8 Benign 26.5 30822 chr7 100679754 100679754 C G rs4992073 MUC17 Nonsynonymous SNV T1686S 0.151 0.18 0.126 47 177 69 0.121 37 0 0 0 0 0.002 30823 chr19 1556200 1556200 C A rs373205976 MEX3D Nonsynonymous SNV G440C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23 30824 chr7 154672646 154672646 T C rs3817522 DPP6 Synonymous SNV F602F 0.199 0.195 0.248 69 234 75 0.177 73 22 6 11 4 0.006 30825 chr1 16254686 16254686 C G rs746747706 SPEN Nonsynonymous SNV P651A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.91 30826 chr19 16060021 16060021 C T rs16980821 OR10H4 Synonymous SNV S68S 0.256 0.255 0.265 92 300 98 0.236 78 43 15 9 6 12.43 30827 chr7 100679760 100679760 G A rs73168394 MUC17 Nonsynonymous SNV G1688E 0.083 0.099 0.034 21 98 38 0.054 10 0 0 0 0 6.204 30828 chr7 154681050 154681050 C T rs1129300 DPP6 Synonymous SNV A684A 0.175 0.154 0.16 72 205 59 0.185 47 19 5 4 10 11.46 30829 chr1 16342237 16342237 A G rs1739840 HSPB7 Synonymous SNV T121T 0.568 0.526 0.534 227 667 202 0.582 157 194 49 41 69 0.027 30830 chr19 16060117 16060117 C A rs16980994 OR10H4 Nonsynonymous SNV N100K 0.256 0.255 0.262 92 300 98 0.236 77 43 15 9 6 10.98 30831 chr19 15574858 15574858 C T rs78677793 RASAL3 Synonymous SNV P104P 0.09 0.07 0.112 36 106 27 0.092 33 5 0 2 1 12.44 30832 chr7 154681216 154681216 G A rs1129301 DPP6 Synonymous SNV R702R 0.198 0.177 0.194 80 233 68 0.205 57 22 6 6 10 1.675 30833 chr7 100679809 100679809 C T rs4992074 MUC17 Synonymous SNV S1704S 0.164 0.193 0.133 50 193 74 0.128 39 16 4 2 3 7.126 30834 chr1 16344360 16344360 A G rs732286 HSPB7 Synonymous SNV A33A 0.568 0.526 0.527 227 667 202 0.582 155 194 49 41 69 7.01 30835 chr7 154684153 154684153 T C rs3734960 DPP6 Nonsynonymous SNV L747P 0.315 0.31 0.357 131 370 119 0.336 105 55 12 22 25 2.064 30836 chr1 16344402 16344402 G A rs945416 HSPB7 Synonymous SNV S19S 0.565 0.526 0.531 227 663 202 0.582 156 194 49 41 69 9.749 30837 chr7 100679902 100679902 A G rs55974941 MUC17 Synonymous SNV E1735E 0.459 0.471 0.534 178 539 181 0.456 157 122 41 35 35 0.037 30838 chr19 16060248 16060248 A G rs16980822 OR10H4 Nonsynonymous SNV H144R 0.256 0.255 0.262 92 300 98 0.236 77 43 15 9 6 0.007 30839 chr18 77170542 77170542 C T rs55863211 NFATC1 Synonymous SNV Y89Y 0.026 0.029 0.014 6 30 11 0.015 4 0 0 0 0 9.487 30840 chr19 14153293 14153293 T C rs35026308 IL27RA Nonsynonymous SNV L188P 0.216 0.224 0.201 96 254 86 0.246 59 33 10 8 7 3.937 30841 chr7 100680370 100680370 C T rs10257974 MUC17 Synonymous SNV P1891P 0.161 0.19 0.133 49 189 73 0.126 39 16 4 2 3 12.14 30842 chr18 61565062 61565062 C G rs6105 SERPINB2 Synonymous SNV V173V 0.023 0.016 0.02 12 27 6 0.031 6 0 1 0 0 10.58 30843 chr7 154760369 154760369 A G rs935037 PAXIP1 Synonymous SNV L514L 0.591 0.576 0.565 232 694 221 0.595 166 212 60 58 65 1.603 30844 chr7 100680939 100680939 C A rs36120435 MUC17 Nonsynonymous SNV A2081D 0.16 0.19 0.129 48 188 73 0.123 38 16 4 2 2 9.67 30845 chr19 16060658 16060658 A G rs11880184 OR10H4 Nonsynonymous SNV T281A 0.256 0.255 0.262 92 300 98 0.236 77 43 15 9 6 13.79 30846 chr7 154862621 154862621 T A rs6320 HTR5A Synonymous SNV P4P 0.209 0.224 0.214 80 245 86 0.205 63 26 11 7 9 9.474 30847 chr19 1827851 1827851 G T rs147544709 REXO1 Nonsynonymous SNV P313T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.002 30848 chr19 14184169 14184169 G T rs558846444 MISP3 Nonsynonymous SNV E16D 0.006 0.013 0.01 2 7 5 0.005 3 0 0 0 0 25.9 30849 chr18 77208922 77208922 C T rs25657 NFATC1 Synonymous SNV A37A 0.053 0.042 0.058 21 62 16 0.054 17 3 2 1 1 14.09 30850 chr19 17737486 17737486 G A rs113693450 UNC13A Synonymous SNV D1343D 0.074 0.06 0.068 35 87 23 0.09 20 4 0 1 1 11.93 30851 chr7 154862652 154862652 C T rs11575874 HTR5A Nonsynonymous SNV P15S 0.06 0.07 0.065 22 70 27 0.056 19 3 0 0 0 0.018 30852 chr7 100680983 100680983 G A rs28593004 MUC17 Nonsynonymous SNV A2096T 0.164 0.193 0.133 50 193 74 0.128 39 16 4 2 3 1.578 30853 chr19 17740115 17740115 G A rs61753902 UNC13A Synonymous SNV L1229L 0.077 0.06 0.071 36 90 23 0.092 21 6 0 1 1 10.63 30854 chr19 1434890 1434890 G T DAZAP1 Synonymous SNV G228G 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 5.255 30855 chr7 100681172 100681172 A G rs28555173 MUC17 Nonsynonymous SNV R2159G 0.164 0.193 0.133 50 193 74 0.128 39 16 4 2 3 0.007 30856 chr7 155150472 155150472 G A rs3922604 BLACE 0.779 0.771 0.752 293 915 296 0.751 221 349 117 85 112 2.295 30857 chr19 18280096 18280096 G A rs149081991 PIK3R2 Nonsynonymous SNV A727T 0.092 0.078 0.065 29 108 30 0.074 19 4 1 1 1 Benign 20.3 30858 chr19 14582468 14582468 G A rs10846 PKN1 Nonsynonymous SNV V901I 0.082 0.12 0.112 30 96 46 0.077 33 3 2 0 0 20.5 30859 chr7 155150560 155150560 A G rs6605563 BLACE 0.779 0.773 0.752 293 915 297 0.751 221 349 117 85 112 0.007 30860 chr7 100681221 100681221 G C rs147785825 MUC17 Nonsynonymous SNV S2175T 0.016 0.008 0.034 2 19 3 0.005 10 3 0 0 0 0.065 30861 chr19 1619350 1619350 C T rs1052692 TCF3 Nonsynonymous SNV G431S 0.075 0.063 0.071 25 88 24 0.064 21 4 0 0 1 7.322 30862 chr7 155150602 155150602 T C rs6605562 BLACE 0.779 0.773 0.752 293 915 297 0.751 221 349 117 85 112 0.006 30863 chr7 155150870 155150870 A G rs67400545 BLACE 0.287 0.307 0.241 91 337 118 0.233 71 46 21 9 10 0.001 30864 chr19 18311199 18311199 A G rs1046565 RAB3A Synonymous SNV A95A 0.341 0.367 0.241 122 400 141 0.313 71 74 23 8 22 0.015 30865 chr7 100681359 100681359 C G rs11979706 MUC17 Nonsynonymous SNV P2221R 0.627 0.669 0.687 229 736 257 0.587 202 226 87 66 64 1.925 30866 chr19 17767204 17767204 G C rs146739681 UNC13A Synonymous SNV P257P 0.027 0.01 0.024 7 32 4 0.018 7 1 0 0 0 0.921 30867 chr7 155251433 155251433 C T rs3735653 EN2 Nonsynonymous SNV L121F 0.311 0.297 0.412 159 365 114 0.408 121 126 45 36 55 21.2 30868 chr7 100681762 100681762 A G rs10953316 MUC17 Synonymous SNV T2355T 0.642 0.669 0.69 230 754 257 0.59 203 235 87 67 65 0.002 30869 chr19 18329784 18329784 C T rs2229228 PDE4C Nonsynonymous SNV R113Q 0.335 0.357 0.255 122 393 137 0.313 75 75 23 9 22 23.2 30870 chr7 100682275 100682275 A G rs4386914 MUC17 Synonymous SNV P2526P 0.164 0.193 0.133 50 193 74 0.128 39 16 4 2 3 0.043 30871 chr18 64239409 64239409 C T rs80135198 CDH19 Synonymous SNV L11L 0.015 0.003 0.024 4 18 1 0.01 7 1 0 0 0 10.74 30872 chr7 155255332 155255332 T C rs2361689 EN2 Synonymous SNV L318L 0.331 0.318 0.333 132 389 122 0.338 98 63 21 16 21 0.558 30873 chr7 100684550 100684550 A G rs35090328 MUC17 Nonsynonymous SNV S3285G 0.15 0.177 0.129 47 176 68 0.121 38 4 1 2 1 9.218 30874 chr7 155301781 155301781 A G rs6947243 CNPY1 Synonymous SNV A120A 0.226 0.255 0.31 92 265 98 0.236 91 51 22 12 13 13.86 30875 chr7 100684593 100684593 G A rs35988443 MUC17 Nonsynonymous SNV S3299N 0.161 0.19 0.133 48 189 73 0.123 39 16 4 2 2 8.901 30876 chr7 155503920 155503920 A T rs7800753 RBM33 Synonymous SNV P324P 0.721 0.729 0.721 274 846 280 0.703 212 304 108 75 93 0.78 30877 chr19 18375563 18375563 G A rs12608744 IQCN Synonymous SNV P929P 0.307 0.331 0.245 101 360 127 0.259 72 55 19 7 15 0.381 30878 chr1 165398115 165398115 T C rs113471 RXRG Synonymous SNV T46T 0.153 0.115 0.187 49 180 44 0.126 55 17 3 5 2 5.104 30879 chr19 18375659 18375659 C T rs12608843 IQCN Synonymous SNV L897L 0.307 0.331 0.245 101 360 127 0.259 72 55 19 7 15 5.896 30880 chr7 155755826 155755826 A G rs2007015 LOC389602 Synonymous SNV S101S 0.871 0.875 0.83 324 1022 336 0.831 244 441 145 101 132 0.16 30881 chr7 100693849 100693849 C T rs6978780 MUC17 Synonymous SNV T4269T 0.238 0.229 0.252 95 279 88 0.244 74 30 10 10 12 11.58 30882 chr19 18376407 18376407 T A rs8110972 IQCN Nonsynonymous SNV Y648F 0.404 0.404 0.395 133 474 155 0.341 116 100 28 20 27 0.002 30883 chr1 165634336 165634336 C T rs61757686 ALDH9A1 Nonsynonymous SNV E461K 0.019 0.013 0.02 7 22 5 0.018 6 0 0 0 0 18.05 30884 chr19 16513219 16513219 G A rs150310027 EPS15L1 Synonymous SNV L568L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.464 30885 chr7 100695138 100695138 G A rs73168398 MUC17 Nonsynonymous SNV R4333Q 0.163 0.185 0.119 48 191 71 0.123 35 14 5 3 1 10.41 30886 chr7 155757502 155757502 T C rs1551630 LOC389602 Nonsynonymous SNV V268A 0.998 1 0.993 389 1172 384 0.997 292 585 192 145 194 0.019 30887 chr19 17885880 17885880 C T rs2287855 FCHO1 Synonymous SNV P262P 0.082 0.102 0.071 35 96 39 0.09 21 4 5 1 3 15.4 30888 chr19 18376522 18376522 T G rs2277922 IQCN Nonsynonymous SNV T610P 0.42 0.435 0.408 139 493 167 0.356 120 103 33 20 32 0.045 30889 chr7 156468559 156468559 T C rs3823617 RNF32 0.037 0.034 0.034 26 44 13 0.067 10 1 2 0 0 22.9 30890 chr7 100731184 100731184 C T rs36064566 TRIM56 Synonymous SNV H197H 0.043 0.039 0.044 10 51 15 0.026 13 3 0 1 0 9.196 30891 chr19 16611978 16611978 T C rs728116 C19orf44 Synonymous SNV A125A 0.284 0.276 0.276 109 334 106 0.279 81 49 15 11 19 0.271 30892 chr7 156469123 156469123 G A rs2302148 RNF32 Nonsynonymous SNV R288Q 0.037 0.034 0.034 26 44 13 0.067 10 1 2 0 0 17.14 30893 chr7 100731505 100731505 C G rs4524722 TRIM56 Synonymous SNV A304A 0.56 0.573 0.718 222 657 220 0.569 211 282 100 87 92 3.774 30894 chr1 165697319 165697319 C T rs150796970 TMCO1 Nonsynonymous SNV A187T 0 0 0.003 0 0 0 0 1 0 0 0 0 35 30895 chr19 18377274 18377274 A G rs3746186 IQCN Nonsynonymous SNV M359T 0.404 0.404 0.395 133 474 155 0.341 116 101 28 20 27 0.001 30896 chr19 14815918 14815918 A C rs75269766 ZNF333 Nonsynonymous SNV E120A 0.068 0.083 0.058 26 80 32 0.067 17 1 1 1 1 0.001 30897 chr19 16612011 16612011 T C rs728117 C19orf44 Synonymous SNV S136S 0.284 0.276 0.279 109 334 106 0.279 82 49 15 11 19 0.047 30898 chr1 16577794 16577794 C T rs35196193 FBXO42 Nonsynonymous SNV A509T 0.049 0.047 0.075 16 57 18 0.041 22 1 0 0 0 0.044 30899 chr7 156469190 156469190 A G rs2302145 RNF32 Synonymous SNV A310A 0.313 0.299 0.33 144 367 115 0.369 97 49 14 16 26 0.789 30900 chr19 18377496 18377496 C G rs8104533 IQCN Nonsynonymous SNV S285T 0.404 0.404 0.395 133 474 155 0.341 116 101 28 20 27 0.003 30901 chr7 100732321 100732321 C T rs11760747 TRIM56 Synonymous SNV N576N 0.172 0.203 0.126 52 202 78 0.133 37 18 7 3 1 4.373 30902 chr18 66678326 66678326 T C rs3763951 CCDC102B Synonymous SNV N473N 0.032 0.016 0.02 10 37 6 0.026 6 0 0 1 0 0.039 30903 chr7 156518192 156518192 G A rs60299355 LMBR1 Synonymous SNV G272G 0.029 0.021 0.041 17 34 8 0.044 12 0 1 0 1 Benign 9.741 30904 chr7 156518195 156518195 G A rs59912051 LMBR1 Synonymous SNV V271V 0.074 0.073 0.105 41 87 28 0.105 31 4 2 0 4 Benign 11.58 30905 chr19 18377647 18377647 G C rs8103906 IQCN Nonsynonymous SNV L235V 0.42 0.435 0.408 139 493 167 0.356 120 104 33 20 32 0.001 30906 chr19 17932289 17932289 C T rs2286663 INSL3 Synonymous SNV A9A 0.055 0.057 0.034 18 64 22 0.046 10 2 1 0 0 17.12 30907 chr7 156554830 156554830 T C rs6957768 LMBR1 Nonsynonymous SNV T135A 0.041 0.044 0.078 27 48 17 0.069 23 1 2 1 1 Benign 6.006 30908 chr1 165865478 165865478 G A rs11553301 UCK2 Synonymous SNV G136G 0.109 0.104 0.119 41 128 40 0.105 35 7 4 1 1 11.82 30909 chr18 8825399 8825399 C T rs16954339 MTCL1 Synonymous SNV S1297S 0.061 0.049 0.061 29 72 19 0.074 18 1 0 1 0 11.21 30910 chr19 18378219 18378219 A G rs1469023 IQCN Nonsynonymous SNV L44P 0.42 0.438 0.408 141 493 168 0.362 120 103 34 20 34 8.851 30911 chr1 166990359 166990359 A G rs34554682 MAEL Nonsynonymous SNV N329S 0.022 0.018 0.017 10 26 7 0.026 5 0 0 0 0 0.022 30912 chr19 17945696 17945696 C T rs3213409 JAK3 Nonsynonymous SNV V722I 0.024 0.023 0.014 22 28 9 0.056 4 0 0 0 1 Benign/Likely benign 16.2 30913 chr7 156761818 156761818 G A rs2302445 NOM1 Nonsynonymous SNV R780H 0.601 0.664 0.643 238 706 255 0.61 189 211 83 62 79 19.21 30914 chr19 15918500 15918500 G A rs148327766 OR10H1 Synonymous SNV T116T 0.134 0.154 0.112 50 157 59 0.128 33 13 2 1 3 Benign 6.068 30915 chr7 156762224 156762224 G C rs2302443 NOM1 Nonsynonymous SNV V805L 0.602 0.664 0.643 239 707 255 0.613 189 213 83 62 79 15.12 30916 chr7 156762248 156762248 G A rs12919 NOM1 Nonsynonymous SNV V813M 0.604 0.664 0.643 239 709 255 0.613 189 214 83 62 79 0.014 30917 chr7 103141351 103141351 G A rs2229862 RELN Synonymous SNV F2836F 0.036 0.029 0.037 8 42 11 0.021 11 0 0 0 0 Benign/Likely benign 13.46 30918 chr19 14938860 14938860 T C rs61731995 OR7A5 Nonsynonymous SNV N65S 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 22.6 30919 chr7 103234202 103234202 C T rs55689103 RELN Nonsynonymous SNV G1280E 0.015 0.018 0.024 8 18 7 0.021 7 0 0 0 0 Benign/Likely benign 26.1 30920 chr7 157000176 157000176 T C rs2301914 UBE3C Synonymous SNV Y501Y 0.376 0.398 0.374 147 442 153 0.377 110 85 29 20 23 5.268 30921 chr18 67836115 67836115 G T rs34353615 RTTN Nonsynonymous SNV N555K 0.008 0.008 0 7 9 3 0.018 0 1 0 0 0 Benign 23.2 30922 chr7 157396697 157396697 G A rs17853260 PTPRN2 Synonymous SNV P767P 0.37 0.359 0.31 147 434 138 0.377 91 81 26 9 27 10.93 30923 chr7 103292224 103292224 T C rs2072403 RELN Synonymous SNV E592E 0.026 0.042 0.031 17 30 16 0.044 9 0 0 0 0 Benign 0.663 30924 chr18 9547947 9547947 T C rs145973791 PPP4R1 Nonsynonymous SNV Y898C 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 19.63 30925 chr7 157414064 157414064 G A rs1130502 PTPRN2 Synonymous SNV A740A 0.417 0.422 0.469 151 489 162 0.387 138 112 36 32 23 8.741 30926 chr7 157903538 157903538 A G rs1130501 PTPRN2 Synonymous SNV S504S 0.388 0.424 0.347 180 456 163 0.462 102 89 27 17 40 0.069 30927 chr1 16736327 16736327 G A rs41269197 SPATA21 Nonsynonymous SNV P96L 0.051 0.06 0.048 19 60 23 0.049 14 5 3 1 2 23.3 30928 chr7 157931091 157931091 C T rs3752368 PTPRN2 Nonsynonymous SNV V305M 0.003 0 0 0 4 0 0 0 0 0 0 0 8.281 30929 chr1 16748432 16748432 C T rs114456729 SPATA21 Synonymous SNV T23T 0.051 0.055 0.065 21 60 21 0.054 19 4 3 2 2 11.86 30930 chr7 105621512 105621512 G T rs193795 CDHR3 Synonymous SNV L28L 0.428 0.471 0.435 168 502 181 0.431 128 101 39 32 37 6.228 30931 chr7 157959636 157959636 G A rs1130498 PTPRN2 Synonymous SNV S261S 0.671 0.708 0.493 280 788 272 0.718 145 261 99 54 99 0.247 30932 chr7 157959879 157959879 C T rs1130497 PTPRN2 Synonymous SNV P180P 0.434 0.445 0.408 193 509 171 0.495 120 109 41 27 44 5.634 30933 chr7 106508057 106508057 C T rs3729673 PIK3CG Synonymous SNV C17C 0.026 0.023 0.034 10 30 9 0.026 10 0 0 1 0 4.707 30934 chr19 18779113 18779113 C T rs17852385 KLHL26 Synonymous SNV T331T 0.079 0.096 0.078 27 93 37 0.069 23 2 2 0 0 8.886 30935 chr7 157959895 157959895 C T rs1130496 PTPRN2 Nonsynonymous SNV R175H 0.434 0.448 0.408 193 510 172 0.495 120 109 42 27 44 13.21 30936 chr7 157959911 157959911 A G rs1130495 PTPRN2 Nonsynonymous SNV S170P 0.853 0.872 0.806 333 1001 335 0.854 237 426 146 93 144 0.001 30937 chr7 106799997 106799997 G A rs257376 PRKAR2B Synonymous SNV T409T 0.527 0.555 0.503 207 619 213 0.531 148 160 63 41 48 12.47 30938 chr1 168698173 168698173 C T rs1052591 DPT Synonymous SNV T80T 0.497 0.516 0.425 179 584 198 0.459 125 148 49 22 36 15.3 30939 chr7 106826381 106826381 C T rs7794598 HBP1 Synonymous SNV H188H 0.217 0.214 0.177 79 255 82 0.203 52 29 7 5 6 16.5 30940 chr7 158672476 158672476 C G rs2709859 WDR60 Nonsynonymous SNV N179K 0.98 0.984 0.969 385 1150 378 0.987 285 563 186 141 190 Benign 0.301 30941 chr7 106897237 106897237 A C rs17349904 COG5 Synonymous SNV V594V 0.195 0.19 0.173 71 229 73 0.182 51 30 7 5 6 Benign 5.261 30942 chr7 107002806 107002806 A G rs2269970 COG5 Nonsynonymous SNV F330L 0.523 0.542 0.517 192 614 208 0.492 152 157 60 41 44 Benign 11.93 30943 chr7 158715219 158715219 A G rs2730238 WDR60 Synonymous SNV K500K 0.755 0.768 0.813 282 886 295 0.723 239 331 114 97 100 Benign 4.502 30944 chr7 158734813 158734813 C T rs34634437 WDR60 Synonymous SNV V801V 0.108 0.104 0.085 42 127 40 0.108 25 5 2 2 2 Benign 10.02 30945 chr1 169521849 169521849 T C rs6035 F5 Synonymous SNV K414K 0.095 0.102 0.112 55 112 39 0.141 33 8 5 2 5 Conflicting interpretations of pathogenicity 0.088 30946 chr7 107350628 107350628 G T rs111033310 SLC26A4 Nonsynonymous SNV G740V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.2 30947 chr7 158827326 158827326 G A rs2071624 VIPR2 Synonymous SNV N259N 0.187 0.185 0.207 76 220 71 0.195 61 26 6 2 7 13.09 30948 chr19 17318018 17318018 G A rs17535005 MYO9B Synonymous SNV P1863P 0.08 0.068 0.088 20 94 26 0.051 26 5 3 0 0 6.705 30949 chr7 158851234 158851234 T G rs2098349 VIPR2 Synonymous SNV T115T 0.904 0.922 0.925 347 1061 354 0.89 272 477 163 126 153 7.15 30950 chr7 158896517 158896517 G A rs2270313 VIPR2 Synonymous SNV D96D 0.25 0.224 0.259 100 293 86 0.256 76 44 17 11 15 3.38 30951 chr7 107423254 107423254 C T rs3735605 SLC26A3 Synonymous SNV A433A 0.181 0.198 0.197 72 213 76 0.185 58 17 4 5 7 Benign 18.07 30952 chr7 158902567 158902567 G A rs3750071 VIPR2 Synonymous SNV A65A 0.119 0.125 0.116 46 140 48 0.118 34 8 7 3 6 2.023 30953 chr1 169582317 169582317 C T rs6125 SELP Nonsynonymous SNV V209M 0.066 0.052 0.082 17 77 20 0.044 24 2 0 1 0 12.18 30954 chr19 1827729 1827729 T C rs371340826 REXO1 Synonymous SNV P353P 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 0.43 30955 chr19 19230816 19230816 T C rs45467802 TMEM161A Nonsynonymous SNV I352V 0.051 0.073 0.051 22 60 28 0.056 15 0 2 0 0 10.97 30956 chr8 494659 494664 GGCGGC - rs71202629 TDRP A32_A33del 0.311 0.237 0.061 113 365 91 0.29 18 117 31 7 38 30957 chr19 17337557 17337557 G T rs10425488 OCEL1 Nonsynonymous SNV R42L 0.101 0.107 0.122 39 119 41 0.1 36 6 1 3 4 23.1 30958 chr1 169673838 169673838 G A rs2229569 SELL Nonsynonymous SNV P213S 0.198 0.211 0.245 80 233 81 0.205 72 34 10 9 5 26 30959 chr8 618728 618728 A G rs2271263 ERICH1 Synonymous SNV L376L 0.886 0.896 0.871 355 1040 344 0.91 256 462 155 112 161 3.799 30960 chr7 107603431 107603431 A C rs2230156 LAMB1 Synonymous SNV P592P 0.237 0.221 0.231 106 278 85 0.272 68 38 11 6 13 Benign 5.407 30961 chr8 623593 623593 G A rs55783038 ERICH1 Synonymous SNV A253A 0.316 0.346 0.337 129 371 133 0.331 99 67 21 25 23 8.602 30962 chr19 19243262 19243262 G A rs139591343 TMEM161A Synonymous SNV G114G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.044 30963 chr8 623906 623906 C T rs118014343 ERICH1 Nonsynonymous SNV R149Q 0.051 0.023 0.034 35 60 9 0.09 10 1 0 0 3 1.994 30964 chr19 15281356 15281356 G A rs745895264 NOTCH3 Synonymous SNV L1634L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 10.15 30965 chr19 17366337 17366337 G A USHBP1 Nonsynonymous SNV L453F 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 30966 chr1 169694918 169694918 A G rs5356 SELE Synonymous SNV D600D 0.151 0.146 0.167 56 177 56 0.144 49 20 5 5 1 1.768 30967 chr1 169696946 169696946 G A rs5368 SELE Nonsynonymous SNV H468Y 0.15 0.146 0.167 56 176 56 0.144 49 20 5 5 1 Uncertain significance 22.7 30968 chr8 1513697 1513697 A G rs2956916 DLGAP2-AS1 0.518 0.484 0.588 222 608 186 0.569 173 163 43 53 61 2.758 30969 chr19 19390185 19390185 G A rs11555053 SUGP1 Synonymous SNV Y455Y 0.224 0.219 0 109 263 84 0.279 0 25 8 0 18 9.999 30970 chr8 1514009 1514009 C A rs2301963 DLGAP2 Nonsynonymous SNV P464Q 0.506 0.479 0.585 219 594 184 0.562 172 152 42 53 59 11.51 30971 chr8 1616718 1616718 A G rs2235112 DLGAP2 Synonymous SNV E678E 0.352 0.354 0.456 141 413 136 0.362 134 67 24 32 20 0.027 30972 chr19 1009413 1009413 G A rs145392111 GRIN3B Nonsynonymous SNV E982K 0.021 0.013 0.01 3 25 5 0.008 3 0 0 1 0 27.5 30973 chr1 169773317 169773317 G A rs11590604 C1orf112 Synonymous SNV L3L 0.158 0.164 0.173 61 185 63 0.156 51 19 9 4 4 7.387 30974 chr19 19446936 19446936 G A rs769267 MAU2 Synonymous SNV P100P 0.644 0.651 0.667 236 756 250 0.605 196 248 82 66 76 13.66 30975 chr8 1846619 1846619 C T rs746072431 ARHGEF10 Synonymous SNV P488P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.877 30976 chr19 19449686 19449686 G T rs2074090 MAU2 Synonymous SNV S163S 0.634 0.635 0.653 233 744 244 0.597 192 239 77 63 75 12.12 30977 chr8 1857548 1857548 T C rs2294038 ARHGEF10 Synonymous SNV Y647Y 0.14 0.138 0.153 52 164 53 0.133 45 11 2 2 3 0.015 30978 chr8 1873540 1873540 C T rs2272613 ARHGEF10 Synonymous SNV P822P 0.078 0.086 0.065 28 91 33 0.072 19 3 2 0 1 20.4 30979 chr1 169951997 169951997 C T rs33943686 KIFAP3 Synonymous SNV G462G 0.124 0.141 0.228 51 145 54 0.131 67 21 10 10 7 15.46 30980 chr8 1905132 1905132 G A rs3735876 ARHGEF10 Synonymous SNV S1208S 0.365 0.359 0.408 155 428 138 0.397 120 81 25 25 27 6.036 30981 chr19 19640204 19640204 A G YJEFN3 Nonsynonymous SNV M31V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 30982 chr1 170928671 170928671 T C rs2294740 MROH9 Nonsynonymous SNV V74A 0.127 0.122 0.15 50 149 47 0.128 44 9 2 2 3 10.71 30983 chr8 2021421 2021421 G T rs2272720 MYOM2 Nonsynonymous SNV V321L 0.459 0.469 0.415 163 539 180 0.418 122 125 45 23 30 13.9 30984 chr19 1010406 1010406 G A rs62131162 TMEM259 Synonymous SNV G602G 0.147 0.143 0.112 57 173 55 0.146 33 20 6 3 5 8.609 30985 chr8 2040337 2040337 T C rs6420202 MYOM2 Synonymous SNV I664I 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 6.052 30986 chr8 2046700 2046700 C T rs2294066 MYOM2 Nonsynonymous SNV T776M 0.17 0.195 0.18 50 199 75 0.128 53 15 7 5 2 22 30987 chr8 2048811 2048811 A C rs4876227 MYOM2 Synonymous SNV V862V 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.004 30988 chr8 2048831 2048831 A G rs968381 MYOM2 Nonsynonymous SNV N869S 0.36 0.38 0.391 137 423 146 0.351 115 76 26 25 30 6.085 30989 chr1 171115645 171115645 G T rs11812061 FMO6P 0 0 0.092 0 0 0 0 27 0 0 0 0 3.477 30990 chr1 171118840 171118840 G A rs2272797 FMO6P 0 0 0.068 0 0 0 0 20 0 0 0 0 8.018 30991 chr18 72201918 72201918 G A rs11151964 CNDP1 Nonsynonymous SNV G6R 0.133 0.141 0.099 42 156 54 0.108 29 11 4 3 4 12.81 30992 chr19 19747520 19747520 G A rs35075083 GMIP Synonymous SNV S438S 0.005 0.01 0.02 3 6 4 0.008 6 0 0 0 0 11.83 30993 chr8 2054066 2054066 A G rs17684416 MYOM2 Synonymous SNV Q923Q 0.151 0.182 0.187 49 177 70 0.126 55 12 6 7 0 0.006 30994 chr1 171121173 171121173 A G rs7889839 FMO6P 0 0 0.068 0 0 0 0 20 0 0 0 0 0.001 30995 chr19 16976289 16976289 T C rs2303091 SIN3B Synonymous SNV S74S 0.215 0.193 0.238 82 252 74 0.21 70 27 8 13 10 0.376 30996 chr8 2057298 2057298 C T rs2280897 MYOM2 Synonymous SNV N1052N 0.141 0.167 0.163 44 166 64 0.113 48 11 4 4 0 14.81 30997 chr8 2071445 2071445 C T rs35244895 MYOM2 Synonymous SNV H1195H 0.04 0.044 0.037 12 47 17 0.031 11 2 0 0 1 5.586 30998 chr1 171121268 171121268 G A rs7886938 FMO6P 0 0 0.068 0 0 0 0 20 0 0 0 0 0.476 30999 chr1 171130346 171130346 G A rs16864125 FMO6P 0 0 0.129 0 0 0 0 38 0 0 1 0 8.053 31000 chr8 2071472 2071472 T C rs34025654 MYOM2 Synonymous SNV D1204D 0.037 0.044 0.037 12 44 17 0.031 11 2 0 0 1 0.028 31001 chr19 20003109 20003109 A G rs8106559 ZNF253 Synonymous SNV L275L 0.206 0.227 0.187 60 242 87 0.154 55 19 7 11 5 1.168 31002 chr1 171130539 171130539 G C rs72714112 FMO6P 0 0 0.129 0 0 0 0 38 0 0 1 0 12.77 31003 chr8 2088797 2088797 C T rs61733951 MYOM2 Synonymous SNV L1318L 0.033 0.042 0.041 12 39 16 0.031 12 2 0 0 1 9.42 31004 chr19 20044041 20044041 G T rs12151060 ZNF93 Nonsynonymous SNV D93Y 0.158 0.174 0.105 34 186 67 0.087 31 12 4 3 0 12.19 31005 chr7 114619689 114619689 G A rs150854365 MDFIC Nonsynonymous SNV G116R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 22.8 31006 chr8 2089095 2089095 A G rs35583392 MYOM2 Synonymous SNV Q1332Q 0.01 0.003 0.01 5 12 1 0.013 3 0 0 0 0 9.323 31007 chr1 171250044 171250044 C T rs742350 FMO1 Synonymous SNV T253T 0.139 0.109 0.092 52 163 42 0.133 27 16 1 1 5 12.43 31008 chr8 2092803 2092803 A G rs1063523 MYOM2 Synonymous SNV T1432T 0.307 0.286 0.333 102 361 110 0.262 98 55 16 18 12 0.003 31009 chr19 18480609 18480609 C T rs7226 PGPEP1 Synonymous SNV P177P 0.224 0.172 0.156 84 263 66 0.215 46 30 6 2 8 3.665 31010 chr1 171252287 171252287 A G rs1126692 FMO1 Synonymous SNV V400V 0.141 0.109 0.099 53 166 42 0.136 29 16 1 2 5 7.065 31011 chr8 2832139 2832139 C G rs667595 CSMD1 Synonymous SNV S2858S 0.746 0.766 0.789 321 876 294 0.823 232 325 108 91 131 10.38 31012 chr19 20727463 20727463 T C rs10411329 ZNF737 Nonsynonymous SNV K516E 0.382 0.359 0.35 157 448 138 0.403 103 86 20 29 37 23.4 31013 chr7 115897392 115897392 G C rs4710 TES Synonymous SNV R374R 0.213 0.221 0.316 113 250 85 0.29 93 26 8 19 22 10.27 31014 chr19 17049230 17049230 G C rs13345399 CPAMD8 Synonymous SNV T940T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.457 31015 chr8 2909992 2909992 G A rs6558702 CSMD1 Nonsynonymous SNV T2551M 0.691 0.732 0.728 291 811 281 0.746 214 284 98 76 105 9.858 31016 chr7 116397572 116397572 A G rs13223756 MET Synonymous SNV Q218Q 0.191 0.169 0.16 75 224 65 0.192 47 21 10 1 6 Benign 1.733 31017 chr19 20727932 20727932 G A rs33926 ZNF737 Synonymous SNV H359H 0.456 0.419 0.439 174 535 161 0.446 129 121 27 39 45 2.105 31018 chr19 18497141 18497141 T A rs1059369 GDF15 Nonsynonymous SNV S48T 0.222 0.174 0.18 78 261 67 0.2 53 29 8 2 8 3.749 31019 chr7 116435768 116435768 C T rs41736 MET Synonymous SNV D856D 0.415 0.419 0.456 178 487 161 0.456 134 95 32 29 33 Benign 11.8 31020 chr19 17049254 17049254 C T rs61745104 CPAMD8 Synonymous SNV A932A 0.027 0.026 0.007 3 32 10 0.008 2 1 0 0 0 6.474 31021 chr19 2078221 2078221 G C rs11541046 MOB3A Synonymous SNV L113L 0.134 0.148 0.119 55 157 57 0.141 35 8 1 1 1 0.204 31022 chr8 2910020 2910020 A G rs6558703 CSMD1 Synonymous SNV L2542L 0.999 0.995 0.997 389 1173 382 0.997 293 586 190 146 194 11.49 31023 chr19 18499238 18499238 G T rs1804826 GDF15 Synonymous SNV P140P 0.222 0.174 0.18 79 261 67 0.203 53 29 8 2 8 10.98 31024 chr7 116436022 116436022 G A rs2023748 MET Synonymous SNV A909A 0.417 0.419 0.463 179 489 161 0.459 136 95 32 29 33 Benign 13.06 31025 chr8 2965244 2965244 T C rs3824271 CSMD1 Synonymous SNV E2277E 0.833 0.846 0.816 306 978 325 0.785 240 407 139 97 115 1.299 31026 chr19 18499305 18499305 - CGT rs199673307 GDF15 S164_Q165insS 0.099 0.06 0.048 31 116 23 0.079 14 5 0 0 2 31027 chr7 116436097 116436097 G A rs41737 MET Synonymous SNV P934P 0.417 0.419 0.463 179 489 161 0.459 136 95 32 29 33 Benign 15.07 31028 chr8 3072107 3072107 G C rs73183587 CSMD1 Synonymous SNV G1593G 0.113 0.109 0.139 35 133 42 0.09 41 4 2 4 2 4.821 31029 chr7 116528240 116528240 C T rs4808 CAPZA2 Synonymous SNV F33F 0.211 0.188 0.19 84 248 72 0.215 56 31 9 3 8 14.18 31030 chr19 20807134 20807300 GCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA - ZNF626 C464Rfs*78 0.152 0.208 0.048 59 178 80 0.151 14 88 40 7 28 31031 chr19 20807352 20807352 C T rs62107361 ZNF626 Nonsynonymous SNV R444K 0.647 0.68 0.449 239 760 261 0.613 132 363 126 65 112 0.02 31032 chr8 6272399 6272399 G T rs2305022 MCPH1 Synonymous SNV V76V 0.723 0.734 0.755 292 849 282 0.749 222 303 101 86 105 Benign 0.392 31033 chr7 116770715 116770715 A C rs3808218 ST7-AS2 0.218 0.18 0.255 84 256 69 0.215 75 25 5 10 8 7.834 31034 chr8 6296550 6296550 G T rs2442513 MCPH1 Nonsynonymous SNV R171S 0.991 0.979 0.952 389 1164 376 0.997 280 577 184 134 194 0.008 31035 chr7 117513445 117513445 C T rs201926476 CTTNBP2 Nonsynonymous SNV E9K 0.025 0.026 0.027 13 29 10 0.033 8 0 0 0 0 26.2 31036 chr19 20808149 20808149 A G rs1991528 ZNF626 Synonymous SNV C178C 0.879 0.906 0.721 346 1032 348 0.887 212 453 157 101 153 0.019 31037 chr19 17163661 17163661 C T rs2305758 HAUS8 Synonymous SNV T300T 0.204 0.221 0.207 83 239 85 0.213 61 25 6 7 9 11.44 31038 chr8 6302183 6302183 G C rs930557 MCPH1 Nonsynonymous SNV D266H 0.736 0.734 0.752 290 864 282 0.744 221 314 104 84 105 Benign 23.5 31039 chr19 2109157 2109157 T C rs25673 AP3D1 Nonsynonymous SNV I1072V 0.13 0.13 0.16 48 153 50 0.123 47 7 4 3 4 0.001 31040 chr19 18546893 18546893 C T rs182999099 ISYNA1 Synonymous SNV Q180Q 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 12.61 31041 chr19 10397987 10397987 A G rs77493670 ICAM4 Nonsynonymous SNV Q100R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Affects 23.4 31042 chr8 6302418 6302418 A G rs2515569 MCPH1 Nonsynonymous SNV D344G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.002 31043 chr19 2110746 2110746 G A rs20567 AP3D1 Synonymous SNV S983S 0.193 0.195 0.252 74 226 75 0.19 74 18 8 8 7 9.039 31044 chr19 17212992 17212992 C T rs3745349 MYO9B Synonymous SNV P155P 0.101 0.135 0.102 51 119 52 0.131 30 5 2 3 0 11.2 31045 chr19 1863385 1863385 C T rs559304268 KLF16 Nonsynonymous SNV A38T 0.021 0.023 0 5 25 9 0.013 0 0 2 0 0 12.74 31046 chr1 172431333 172431333 A G rs16844498 C1orf105 Nonsynonymous SNV M87V 0.095 0.102 0.075 32 111 39 0.082 22 5 2 1 5 0.001 31047 chr19 21131728 21131728 A G rs12972502 ZNF85 Synonymous SNV Q72Q 0.113 0.107 0.105 60 133 41 0.154 31 2 1 3 9 0.052 31048 chr8 6303025 6303025 G A rs2584 MCPH1 Synonymous SNV T546T 0.275 0.234 0.224 77 323 90 0.197 66 39 8 7 7 Benign 9.385 31049 chr19 10334725 10334725 A G rs117064827 S1PR2 Nonsynonymous SNV V286A 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 Benign/Likely benign 26 31050 chr19 2114175 2114175 T C rs55698722 AP3D1 Synonymous SNV K850K 0.131 0.13 0.075 47 154 50 0.121 22 7 4 3 4 0.008 31051 chr19 17283657 17283657 C T rs2279006 MYO9B Synonymous SNV I675I 0.12 0.109 0.095 36 141 42 0.092 28 10 2 2 2 13.84 31052 chr1 172431386 172431386 G A rs41310899 C1orf105 0.095 0.102 0.075 31 111 39 0.079 22 5 2 1 5 24.1 31053 chr8 6371315 6371315 C T rs200777464 ANGPT2 Synonymous SNV S309S 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 17.83 31054 chr19 17547331 17547331 T C rs191341046 TMEM221 Nonsynonymous SNV H271R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.808 31055 chr19 2116649 2116649 A G rs2074960 AP3D1 Synonymous SNV R652R 0.171 0.172 0.184 64 201 66 0.164 54 12 6 5 6 0.221 31056 chr7 120876835 120876835 A G rs35793694 CPED1 Nonsynonymous SNV E708G 0.066 0.083 0.088 35 78 32 0.09 26 1 1 2 1 22.9 31057 chr19 10335552 10335552 G T rs56357614 S1PR2 Nonsynonymous SNV N10K 0.029 0.044 0.02 14 34 17 0.036 6 0 0 0 0 Benign/Likely benign 14.19 31058 chr8 6478956 6478956 A G rs2936531 MCPH1-AS1 0.359 0.38 0.398 131 422 146 0.336 117 68 33 20 16 Benign 4.902 31059 chr19 2118692 2118692 C T rs34569645 AP3D1 Nonsynonymous SNV G541R 0.126 0.128 0.156 48 148 49 0.123 46 5 4 3 4 8.803 31060 chr8 6478986 6478986 C T rs2912010 MCPH1 Synonymous SNV S649S 0.348 0.362 0.384 124 408 139 0.318 113 64 30 19 16 Benign 8.944 31061 chr8 6479042 6479042 C T rs1057090 MCPH1 Nonsynonymous SNV A668V 0.349 0.367 0.384 124 410 141 0.318 113 65 33 17 15 Benign 8.779 31062 chr19 21300142 21300142 A C rs112722125 ZNF714 Synonymous SNV G224G 0.101 0.068 0.058 32 119 26 0.082 17 1 1 0 0 0.2 31063 chr19 17305781 17305781 T G rs45541337 MYO9B Nonsynonymous SNV V1182G 0.044 0.052 0.048 12 52 20 0.031 14 1 0 1 0 0.709 31064 chr8 6500544 6500544 C T rs1057091 MCPH1 Nonsynonymous SNV P735S 0.283 0.281 0.35 104 332 108 0.267 103 46 16 15 13 Benign 0.113 31065 chr19 17571633 17571633 C T rs140610859 NXNL1 Nonsynonymous SNV D16N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.1 31066 chr18 76753059 76753059 C T rs753458066 SALL3 Synonymous SNV P356P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.13 31067 chr19 21300964 21300964 T C rs111456417 ZNF714 Synonymous SNV H498H 0.101 0.068 0.068 32 119 26 0.082 20 1 1 0 0 0.018 31068 chr8 6673378 6673378 A - rs11338621 XKR5 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 31069 chr8 6793581 6793581 A G rs2738100 DEFA4 Synonymous SNV G85G 0.347 0.336 0.388 163 407 129 0.418 114 67 25 22 35 8.668 31070 chr19 21477379 21477379 C T rs504280 ZNF708 Nonsynonymous SNV R66Q 0.237 0.221 0.241 84 278 85 0.215 71 44 8 11 10 0.04 31071 chr7 120969825 120969825 C A rs17143291 WNT16 Synonymous SNV T90T 0.011 0.016 0.01 10 13 6 0.026 3 0 0 0 0 Benign 17.18 31072 chr8 6913031 6913031 G A rs2272719 DEFA5 Synonymous SNV T69T 0.368 0.43 0.401 145 432 165 0.372 118 78 37 20 23 8.237 31073 chr8 8234113 8234113 G A rs2921005 PRAG1 Synonymous SNV V602V 0.073 0.06 0.099 35 86 23 0.09 29 4 3 1 3 8.77 31074 chr8 8234868 8234868 - GCCGCT rs150979349 PRAG1, PRAG1 G350_A351insSG 0.497 0.479 0.534 202 584 184 0.518 157 140 44 46 54 31075 chr19 17322800 17322800 T C rs117297085 MYO9B Nonsynonymous SNV V2052A 0.043 0.052 0.044 12 50 20 0.031 13 1 0 1 0 18.65 31076 chr8 8235028 8235028 G A rs772116048 PRAG1 Synonymous SNV P297P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.517 31077 chr7 121653375 121653377 TGA - rs35947407 PTPRZ1 D1431del 0.388 0.349 0.429 150 456 134 0.385 126 85 29 26 28 31078 chr8 8747894 8747894 A G rs429433 MFHAS1 Nonsynonymous SNV L892P 0.968 0.977 0.956 376 1136 375 0.964 281 549 183 134 181 20.7 31079 chr7 121653398 121653398 G A rs1147504 PTPRZ1 Nonsynonymous SNV G1433D 0.49 0.466 0.517 191 575 179 0.49 152 136 46 41 44 10.83 31080 chr19 10450285 10450285 G A rs281414 ICAM3 Synonymous SNV A2A 0.105 0.091 0.112 48 123 35 0.123 33 6 0 2 4 8.717 31081 chr8 8860620 8860620 T C rs2288672 ERI1 Nonsynonymous SNV L16P 0.907 0.878 0.929 357 1065 337 0.915 273 482 153 127 165 0.275 31082 chr19 17666636 17666636 C T rs7259723 COLGALT1 Synonymous SNV F38F 0.366 0.297 0.18 143 430 114 0.367 53 193 46 22 62 14.51 31083 chr19 16192765 16192765 G A rs11539578 TPM4 Nonsynonymous SNV V59I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 31084 chr19 17337871 17337871 A G rs891204 OCEL1 Synonymous SNV G105G 0.123 0.167 0.109 44 144 64 0.113 32 8 9 3 2 7.689 31085 chr19 17728572 17728572 C T rs56174023 UNC13A Synonymous SNV S1499S 0.226 0.201 0.167 92 265 77 0.236 49 28 9 5 12 13.72 31086 chr8 8887543 8887545 AAC - rs140242735 ERI1 *272* 0.493 0.427 0.534 201 579 164 0.515 157 149 38 42 53 31087 chr19 17337882 17337882 C G rs891203 OCEL1 Nonsynonymous SNV A109G 0.123 0.167 0.105 44 144 64 0.113 31 8 9 3 2 11.36 31088 chr19 17743622 17743622 C A rs75595663 UNC13A Nonsynonymous SNV A1133S 0.083 0.094 0.092 35 98 36 0.09 27 1 3 1 4 12.93 31089 chr19 19745479 19745479 C T rs12003 GMIP Nonsynonymous SNV D612N 0.027 0.023 0.02 7 32 9 0.018 6 0 0 0 0 15.45 31090 chr19 21719401 21719401 T C rs35782355 ZNF429 Synonymous SNV F118F 0.606 0.607 0.51 243 711 233 0.623 150 224 70 47 73 0.049 31091 chr18 77171227 77171227 G A rs577696155 NFATC1 Nonsynonymous SNV A318T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 31092 chr19 10475315 10475315 G A rs147991080 TYK2 Nonsynonymous SNV R448W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.2 31093 chr8 9414049 9414049 G A rs33945943 TNKS Synonymous SNV R200R 0.217 0.219 0.197 90 255 84 0.231 58 27 11 4 11 11.61 31094 chr1 173855208 173855208 A G rs16846520 ZBTB37 Synonymous SNV T486T 0.123 0.104 0.095 64 144 40 0.164 28 12 1 0 7 0.003 31095 chr8 9564437 9564437 A G rs7006985 TNKS Synonymous SNV T462T 0.664 0.674 0.619 260 780 259 0.667 182 260 91 53 85 0.318 31096 chr19 17339112 17339112 G A rs14129 OCEL1 Synonymous SNV K222K 0.116 0.159 0.095 43 136 61 0.11 28 7 9 3 2 3.534 31097 chr19 19823270 19823270 T A rs12973901 ZNF14 Nonsynonymous SNV T274S 0.2 0.229 0.17 75 235 88 0.192 50 31 10 6 5 23.3 31098 chr19 1622331 1622331 G A rs371471771 TCF3 Synonymous SNV P211P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 8.653 31099 chr19 10477206 10477206 G A rs280523 TYK2 Synonymous SNV T172T 0.06 0.07 0.065 30 71 27 0.077 19 2 1 0 2 Benign 12.37 31100 chr8 9577940 9577940 T C rs6601360 TNKS Synonymous SNV G602G 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 4.292 31101 chr19 17351535 17351535 G A rs2288539 NR2F6 Synonymous SNV N106N 0.104 0.151 0.102 40 122 58 0.103 30 5 8 4 1 10.25 31102 chr8 9609331 9609331 G A rs13265931 TNKS Synonymous SNV A1015A 0.141 0.12 0.17 48 165 46 0.123 50 12 3 4 3 5.657 31103 chr19 17361064 17361064 C T rs10415471 USHBP1 Synonymous SNV P630P 0.175 0.169 0.153 62 206 65 0.159 45 24 7 4 5 12.73 31104 chr7 122809234 122809234 T C rs2140516 SLC13A1 Nonsynonymous SNV N174S 0.289 0.242 0.303 106 339 93 0.272 89 45 8 14 18 0.001 31105 chr1 17413121 17413121 A C rs2076615 PADI2 Synonymous SNV G243G 0.24 0.229 0.211 91 282 88 0.233 62 43 11 5 8 association 7.353 31106 chr8 10383226 10383226 C G rs4521726 PRSS55 Nonsynonymous SNV P44R 0.787 0.833 0.823 314 924 320 0.805 242 365 132 98 127 1.153 31107 chr1 17419024 17419024 G A rs11203297 PADI2 Synonymous SNV L178L 0.167 0.167 0.18 52 196 64 0.133 53 18 6 6 2 10.62 31108 chr7 123097468 123097468 T C rs10234745 IQUB Synonymous SNV A720A 0.26 0.253 0.231 92 305 97 0.236 68 41 13 5 9 12.69 31109 chr8 10464755 10464755 C T rs55642448 RP1L1 Nonsynonymous SNV G2285R 0.391 0.401 0.401 160 459 154 0.41 118 85 25 19 42 Benign 22.2 31110 chr19 23328940 23328940 G A rs7247102 ZNF730 Nonsynonymous SNV G365E 0.765 0.763 0.456 308 898 293 0.79 134 348 111 59 125 0.053 31111 chr7 123119990 123119990 T C rs10500091 IQUB Synonymous SNV Q423Q 0.256 0.253 0.214 90 301 97 0.231 63 41 13 4 8 0.478 31112 chr7 123152019 123152019 C T rs10255061 IQUB Nonsynonymous SNV V126M 0.257 0.253 0.214 90 302 97 0.231 63 41 13 4 8 1.648 31113 chr8 10464885 10464885 T C rs56382513 RP1L1 Synonymous SNV S2241S 0.571 0.568 0.517 214 670 218 0.549 152 198 63 44 60 Benign 0.104 31114 chr18 77474921 77474921 G A rs2126082 CTDP1 Synonymous SNV P368P 0.176 0.182 0.187 77 207 70 0.197 55 21 10 4 9 Benign 1.008 31115 chr1 175054626 175054626 G T rs6664276 TNN Nonsynonymous SNV R440S 0.014 0.008 0.031 5 17 3 0.013 9 0 0 0 0 Benign 12.17 31116 chr8 10465748 10465748 T C rs11783478 RP1L1 Nonsynonymous SNV T1954A 0.57 0.565 0.469 213 669 217 0.546 138 198 63 45 60 Benign 0.002 31117 chr7 123152035 123152035 T C rs10270705 IQUB Synonymous SNV E120E 0.31 0.286 0.286 111 364 110 0.285 84 53 16 9 17 0.029 31118 chr19 17373566 17373566 G A rs138834718 USHBP1 Nonsynonymous SNV P82L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.713 31119 chr19 23837145 23837145 A G rs11671053 ZNF675 Nonsynonymous SNV V197A 0.542 0.521 0.194 197 636 200 0.505 57 170 53 24 52 8.996 31120 chr8 10465771 10465771 G T rs11785822 RP1L1 Nonsynonymous SNV A1946E 0.928 0.927 0.874 369 1089 356 0.946 257 505 165 124 175 Benign 1.249 31121 chr1 175092631 175092631 A C rs147999369 TNN Nonsynonymous SNV M916L 0.012 0 0.017 7 14 0 0.018 5 0 0 0 0 0.002 31122 chr8 10465942 10465942 T A rs28446662 RP1L1 Nonsynonymous SNV D1889V 0.175 0.159 0.119 82 205 61 0.21 35 19 1 3 15 Benign 4.709 31123 chr19 17919024 17919024 A T rs2240813 B3GNT3 Synonymous SNV V136V 0.067 0.057 0.065 19 79 22 0.049 19 2 1 2 0 3.321 31124 chr8 10467124 10467124 G C rs4841399 RP1L1 Nonsynonymous SNV P1495R 0.25 0.232 0.18 103 293 89 0.264 53 35 7 6 21 Benign 0.01 31125 chr19 23926708 23926708 A G rs1852433 ZNF681 Synonymous SNV H548H 1 1 0.935 389 1174 384 0.997 275 587 192 137 194 0.003 31126 chr7 124404371 124404371 G A rs61744942 GPR37 Synonymous SNV A220A 0.074 0.083 0.082 38 87 32 0.097 24 8 1 1 5 9.74 31127 chr8 10467207 10467207 C A rs4840498 RP1L1 Nonsynonymous SNV R1467S 0.996 0.995 0.993 388 1169 382 0.995 292 582 190 145 193 Benign 1.916 31128 chr7 124404983 124404983 A G rs62638681 GPR37 Synonymous SNV L16L 0.008 0.021 0.017 19 9 8 0.049 5 0 0 0 1 0.047 31129 chr1 175129924 175129924 - CTT rs754046354 KIAA0040 K75_D76insK 0.16 0.135 0.173 58 188 52 0.149 51 16 4 1 4 31130 chr8 10467576 10467576 T C rs4840499 RP1L1 Synonymous SNV T1344T 0.293 0.289 0.259 96 344 111 0.246 76 88 28 16 23 Benign 1.063 31131 chr8 10467587 10467588 TT - rs796880000 RP1L1 E1340Dfs*2 0 0 0 0 0 0 0 0 0 0 0 0 31132 chr8 10467625 10467625 T A rs141205444 RP1L1 Nonsynonymous SNV E1328V 0.034 0.052 0.041 13 40 20 0.033 12 1 1 0 0 Benign 0.027 31133 chr19 23927742 23927743 CA - rs61397759 ZNF681 C203Wfs*5 0.154 0.128 0.146 56 181 49 0.144 43 12 2 3 2 31134 chr19 23928102 23928102 C G rs7248674 ZNF681 Nonsynonymous SNV D84H 1 1 0.473 389 1174 384 0.997 139 587 192 69 194 18.06 31135 chr1 175334410 175334410 G A rs766381125 TNR Nonsynonymous SNV R442C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 31136 chr8 10467626 10467626 C T rs141046710 RP1L1 Nonsynonymous SNV E1328K 0.034 0.052 0.041 13 40 20 0.033 12 1 1 0 0 Benign 1.379 31137 chr18 8718613 8718613 T C MTCL1 Synonymous SNV G55G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.254 31138 chr19 10475649 10475649 C T rs2304255 TYK2 Nonsynonymous SNV G363S 0.066 0.076 0.085 25 78 29 0.064 25 3 0 1 1 Benign 0.879 31139 chr19 21719719 21719719 T A rs143458227 ZNF429 Nonsynonymous SNV D224E 0.032 0.023 0 12 37 9 0.031 0 1 0 0 0 12.58 31140 chr18 8720368 8720368 C T rs73939505 MTCL1 Synonymous SNV H77H 0.027 0.042 0.024 4 32 16 0.01 7 0 0 0 0 14.78 31141 chr19 2396556 2396556 C T rs7252886 TMPRSS9 Synonymous SNV G54G 0.209 0.216 0.146 84 245 83 0.215 43 29 9 8 8 7.655 31142 chr8 10467628 10467628 G A rs143544262 RP1L1 Nonsynonymous SNV T1327I 0.034 0.052 0.041 13 40 20 0.033 12 1 1 0 0 Benign 0.002 31143 chr19 2396611 2396611 C T rs17685098 TMPRSS9 Nonsynonymous SNV R73W 0.201 0.206 0.163 81 236 79 0.208 48 27 8 8 6 23.4 31144 chr19 17397264 17397264 G A rs763721240 ANKLE1 Nonsynonymous SNV G512S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 31145 chr8 10467629 10467629 T C rs139405108 RP1L1 Nonsynonymous SNV T1327A 0.025 0.039 0.031 9 29 15 0.023 9 1 1 0 0 Benign 0.001 31146 chr19 10527666 10527666 G A rs148854414 PDE4A Synonymous SNV E16E 0.037 0.044 0.037 11 43 17 0.028 11 4 1 1 1 14.46 31147 chr1 175375469 175375469 C A rs2239819 TNR Nonsynonymous SNV A128S 0.172 0.148 0.177 74 202 57 0.19 52 13 4 3 6 0.027 31148 chr19 2226847 2226847 G T rs113842228 DOT1L Nonsynonymous SNV G1443C 0.074 0.068 0.051 28 87 26 0.072 15 0 1 0 2 24.3 31149 chr8 10467636 10467636 T C rs4840500 RP1L1 Synonymous SNV E1324E 0.037 0.052 0.041 13 44 20 0.033 12 2 1 0 0 Benign 0.025 31150 chr7 127999645 127999645 C T rs56272205 PRRT4 Nonsynonymous SNV R134Q 0.113 0.099 0.143 43 133 38 0.11 42 7 1 3 1 4.356 31151 chr8 10467637 10467637 T C rs4240659 RP1L1 Nonsynonymous SNV E1324G 0.152 0.167 0.139 39 179 64 0.1 41 33 11 9 7 Uncertain significance 0.79 31152 chr19 22270897 22270897 G A rs764214660 ZNF257 Synonymous SNV K39K 0.04 0.016 0 4 47 6 0.01 0 0 0 0 0 0.545 31153 chr19 2733250 2733250 C T rs61736898 SLC39A3 Synonymous SNV V148V 0.203 0.174 0.19 89 238 67 0.228 56 30 7 5 7 3.976 31154 chr19 22270899 22270899 G T rs751772682 ZNF257 Nonsynonymous SNV G40V 0.04 0.016 0 5 47 6 0.013 0 0 0 0 0 0.177 31155 chr7 128034629 128034629 C T rs2228075 IMPDH1 Synonymous SNV A415A 0.204 0.232 0.201 90 239 89 0.231 59 26 14 8 13 Likely benign 10.91 31156 chr19 17108022 17108022 C T rs62125985 CPAMD8 Nonsynonymous SNV A332T 0.118 0.109 0.105 49 139 42 0.126 31 9 1 0 3 13.43 31157 chr8 10467652 10467652 G C rs4840501 RP1L1 Nonsynonymous SNV A1319G 0.184 0.169 0.133 69 216 65 0.177 39 33 5 4 10 Benign 0.013 31158 chr7 128038555 128038555 C G rs2288550 IMPDH1 Synonymous SNV L219L 0.101 0.13 0.18 51 119 50 0.131 53 6 3 4 3 Benign 11.87 31159 chr19 22270912 22270912 G A rs796494259 ZNF257 Synonymous SNV V44V 0.029 0.013 0 5 34 5 0.013 0 0 0 0 0 0.696 31160 chr1 175937540 175937540 C T rs4534339 MIR1843, SCARNA3 0 0 0.99 0 0 0 0 291 0 0 144 0 14.32 31161 chr19 22270921 22270921 T C ZNF257 Synonymous SNV C47C 0.026 0.01 0 6 31 4 0.015 0 0 0 0 0 0.004 31162 chr7 128315791 128315791 C G rs61738927 FAM71F2 Synonymous SNV V81V 0.265 0.255 0.272 119 311 98 0.305 80 36 11 12 19 11.18 31163 chr8 10468172 10468172 G A rs4840502 RP1L1 Nonsynonymous SNV R1146W 0.664 0.638 0.639 266 779 245 0.682 188 267 71 58 94 Benign 25.7 31164 chr19 22270928 22270928 T C ZNF257 Nonsynonymous SNV C50R 0.02 0.01 0 4 24 4 0.01 0 0 0 0 0 0.061 31165 chr7 128315882 128315882 C A rs17169357 FAM71F2 Nonsynonymous SNV P112T 0.246 0.237 0.265 116 289 91 0.297 78 36 12 12 19 18.17 31166 chr19 22270929 22270929 G A ZNF257 Nonsynonymous SNV C50Y 0.02 0.01 0 5 24 4 0.013 0 0 0 0 0 0.007 31167 chr18 9254785 9254785 C T rs17498752 ANKRD12 Nonsynonymous SNV T484I 0.078 0.06 0.048 19 92 23 0.049 14 2 1 1 2 22.7 31168 chr8 10469233 10469233 A G rs35602868 RP1L1 Nonsynonymous SNV L792P 0.523 0.513 0.507 206 614 197 0.528 149 166 53 37 58 Benign 13.58 31169 chr19 22270934 22270934 G C ZNF257 Nonsynonymous SNV G52R 0.021 0.01 0 4 25 4 0.01 0 0 0 0 0 0.022 31170 chr19 2917287 2917287 C A rs2288958 ZNF57 Nonsynonymous SNV T191N 0.453 0.464 0.5 173 532 178 0.444 147 123 39 38 34 0.522 31171 chr7 128317658 128317658 C T rs6467210 FAM71F2 Nonsynonymous SNV R136W 0.265 0.258 0.272 119 311 99 0.305 80 36 12 12 19 25.6 31172 chr19 1061804 1061804 T C rs78320196 ABCA7 Synonymous SNV N1829N 0.055 0.052 0.041 19 65 20 0.049 12 3 0 0 1 1.592 31173 chr18 9255784 9255784 C A rs72939232 ANKRD12 Nonsynonymous SNV T817N 0.078 0.055 0.01 19 92 21 0.049 3 2 1 1 2 0.001 31174 chr19 1825928 1825930 CTC - rs149465929 REXO1 E642del 0.21 0.167 0.163 78 246 64 0.2 48 19 2 7 7 31175 chr19 22270935 22270935 G A ZNF257 Nonsynonymous SNV G52E 0.02 0.01 0 4 23 4 0.01 0 0 0 0 0 0.002 31176 chr8 10469292 10469292 C T rs62490857 RP1L1 Synonymous SNV S772S 0.069 0.052 0.048 37 81 20 0.095 14 2 0 1 2 Benign 11.79 31177 chr19 1827197 1827197 C T rs78977406 REXO1 Nonsynonymous SNV A531T 0.028 0.013 0.031 12 33 5 0.031 9 0 0 0 0 3.247 31178 chr7 128323034 128323034 A G rs1109552 FAM71F2 Nonsynonymous SNV I251V 0.266 0.255 0.272 118 312 98 0.303 80 36 11 12 18 3.59 31179 chr8 10469817 10469817 G A rs6996950 RP1L1 Synonymous SNV G597G 0.815 0.82 0.806 330 957 315 0.846 237 392 127 97 141 Benign 1.131 31180 chr8 10470068 10470068 C T rs74990397 RP1L1 Nonsynonymous SNV G514S 0.463 0.466 0.442 185 543 179 0.474 130 132 42 27 48 Benign 0.006 31181 chr1 17668509 17668509 G A rs41265995 PADI4 Nonsynonymous SNV G242S 0.022 0.023 0.02 6 26 9 0.015 6 0 0 0 0 21.5 31182 chr18 9257934 9257934 A C rs146159815 ANKRD12 Nonsynonymous SNV T1534P 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 12.38 31183 chr8 10480268 10480268 A C rs112609335 RP1L1 Synonymous SNV L148L 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 Benign/Likely benign 0.013 31184 chr7 128359133 128359133 C T rs6949056 FAM71F1 Nonsynonymous SNV S228L 0.217 0.242 0.224 94 255 93 0.241 66 32 14 6 16 22.3 31185 chr8 10530218 10530218 C T rs11250058 C8orf74 Nonsynonymous SNV L15F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.249 31186 chr19 18280044 18280044 C T rs112813367 PIK3R2 Synonymous SNV T709T 0.055 0.07 0.061 27 65 27 0.069 18 2 0 1 1 Benign 18.14 31187 chr8 11162496 11162496 A C rs2164272 MTMR9 Synonymous SNV L188L 0.462 0.424 0.459 184 542 163 0.472 135 144 31 31 44 2.609 31188 chr8 11301753 11301753 A C rs3021513 FAM167A Nonsynonymous SNV H56Q 0.995 1 0.976 389 1168 384 0.997 287 581 192 143 194 1.237 31189 chr19 2994903 2994903 T C rs34831575 TLE6 Synonymous SNV P417P 0.252 0.273 0.235 108 296 105 0.277 69 51 14 9 15 0.009 31190 chr19 11034677 11034677 - G rs200515734 YIPF2 0.003 0.01 0.007 3 3 4 0.008 2 0 0 0 0 31191 chr19 22715257 22715257 T G rs1391581 LOC105376917 0.598 0.589 0 222 702 226 0.569 0 217 63 0 67 1.53 31192 chr19 2994921 2994921 G A rs34551565 TLE6 Synonymous SNV T423T 0.245 0.271 0.231 107 288 104 0.274 68 47 13 9 15 10.37 31193 chr7 128486110 128486110 A C FLNC Nonsynonymous SNV N1286T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.34 31194 chr8 11405576 11405576 G A rs55758736 BLK Nonsynonymous SNV A71T 0.029 0.029 0.014 8 34 11 0.021 4 0 0 0 0 Conflicting interpretations of pathogenicity 17.36 31195 chr19 2997897 2997897 G A rs11150 TLE2 Synonymous SNV I605I 0.178 0.167 0.173 76 209 64 0.195 51 28 4 7 5 16.62 31196 chr19 23405457 23405457 T G rs10411741 ZNF724 Synonymous SNV G530G 0.525 0.549 0.374 224 616 211 0.574 110 162 54 33 60 8.108 31197 chr19 23405580 23405580 T C rs10412126 ZNF724 Synonymous SNV L489L 0.524 0.547 0.316 224 615 210 0.574 93 161 54 31 60 0.042 31198 chr8 11406593 11406593 T C rs3816668 BLK Synonymous SNV S39S 0.543 0.563 0.558 218 638 216 0.559 164 173 60 43 56 Benign 3.267 31199 chr1 177902388 177902388 G A rs3813647 CRYZL2P-SEC16B, SEC16B Synonymous SNV P587P 0.224 0.203 0.286 76 263 78 0.195 84 31 8 10 4 10.3 31200 chr19 17566634 17566634 T A rs56248314 NXNL1 Nonsynonymous SNV E154V 0.128 0.125 0.085 38 150 48 0.097 25 14 4 2 4 28.5 31201 chr8 11414237 11414237 T C rs2306234 BLK Synonymous SNV F210F 0.803 0.792 0.799 301 943 304 0.772 235 377 119 96 113 Benign 0.034 31202 chr19 23406801 23406801 G C rs8110795 ZNF724 Synonymous SNV A82A 0.519 0.544 0.371 223 609 209 0.572 109 161 54 30 61 0.187 31203 chr8 11614469 11614469 T C rs56206007 GATA4 Synonymous SNV P342P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 0.15 31204 chr19 3011146 3011146 C T rs118030930 TLE2 Nonsynonymous SNV A174T 0.021 0.013 0.014 14 25 5 0.036 4 1 0 0 0 7.1 31205 chr19 17318012 17318012 G A rs79829421 MYO9B Synonymous SNV S1861S 0.032 0.039 0.037 8 37 15 0.021 11 0 1 0 0 11.13 31206 chr8 11666219 11666224 TCCCAC - rs71711801 FDFT1 H76_S77del 0.945 0.94 0.844 373 1109 361 0.956 248 540 173 121 179 31207 chr1 177929940 177929940 G A rs7413442 CRYZL2P-SEC16B, SEC16B Synonymous SNV L309L 0.216 0.177 0.245 73 254 68 0.187 72 24 5 8 7 10.85 31208 chr18 9887857 9887857 G A rs17732496 TXNDC2 Nonsynonymous SNV A461T 0.138 0.156 0.105 59 162 60 0.151 31 8 2 2 1 9.461 31209 chr8 11683653 11683653 T C rs904011 FDFT1 Synonymous SNV L44L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.011 31210 chr8 11831557 11831557 G A rs73538682 DEFB136 Synonymous SNV F42F 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 7.055 31211 chr8 11832079 11832079 A G rs10108075 DEFB136 Synonymous SNV F10F 0.589 0.583 0.595 213 692 224 0.546 175 206 66 50 56 0.003 31212 chr1 178514560 178514560 - T rs34632529 C1orf220 0 0 0.432 0 0 0 0 127 0 0 25 0 31213 chr19 1003172 1003172 C T rs2240154 GRIN3B Nonsynonymous SNV T157M 0.106 0.091 0.102 53 124 35 0.136 30 7 2 4 4 22.8 31214 chr19 30935704 30935704 C A rs61744158 ZNF536 Nonsynonymous SNV P412H 0.072 0.078 0.071 39 85 30 0.1 21 2 2 2 2 22.7 31215 chr8 12878637 12878637 A G rs528255 TRMT9B Nonsynonymous SNV H24R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.007 31216 chr8 12878677 12878677 T C rs622106 TRMT9B Synonymous SNV A37A 0.808 0.802 0.84 324 949 308 0.831 247 387 120 102 131 0.028 31217 chr19 3148819 3148819 G T rs8113569 LOC100996351 0.613 0.635 0.537 244 720 244 0.626 158 225 72 47 75 3.436 31218 chr1 179414105 179414105 A C rs11577579 AXDND1 Nonsynonymous SNV I522L 0.204 0.219 0.248 76 239 84 0.195 73 34 13 11 10 0.331 31219 chr8 12878807 12878807 T G rs3739310 TRMT9B Nonsynonymous SNV C81G 0.781 0.773 0.782 309 917 297 0.792 230 358 111 91 120 0.167 31220 chr19 17688835 17688835 C T rs766228746 COLGALT1 Synonymous SNV H401H 0.003 0 0 0 3 0 0 0 0 0 0 0 12.71 31221 chr19 23927345 23927345 T C rs7245561 ZNF681 Nonsynonymous SNV K336R 0.187 0.185 0.177 80 220 71 0.205 52 20 4 5 8 21.7 31222 chr19 17397495 17397495 G T rs576892988 ANKLE1 Nonsynonymous SNV V589L 0.056 0.089 0.054 23 66 34 0.059 16 2 0 0 0 2.32 31223 chr7 129813738 129813738 T C rs3823482 TMEM209 Synonymous SNV L420L 0.194 0.177 0.177 66 228 68 0.169 52 25 4 6 4 11.67 31224 chr8 12878830 12878830 C T rs3739309 TRMT9B Synonymous SNV S88S 0.56 0.526 0.531 215 657 202 0.551 156 179 58 41 53 13.69 31225 chr8 12879062 12879062 T C rs503550 TRMT9B Synonymous SNV L166L 0.808 0.802 0.84 324 949 308 0.831 247 387 120 102 131 0.003 31226 chr19 31769763 31769763 G A rs12461253 TSHZ3 Synonymous SNV V312V 0.264 0.234 0.344 111 310 90 0.285 101 34 7 20 23 0.339 31227 chr19 17435647 17435647 G A rs150818557 ANO8 Synonymous SNV G1070G 0.012 0.018 0.007 1 14 7 0.003 2 0 0 0 0 10.74 31228 chr8 12879099 12879099 G A rs502882 TRMT9B Nonsynonymous SNV G178E 0.808 0.802 0.84 324 949 308 0.831 247 387 120 102 131 0.007 31229 chr7 129916515 129916515 T C rs17590 CPA2 Synonymous SNV D211D 0.616 0.612 0.639 244 723 235 0.626 188 228 71 54 74 0.064 31230 chr7 129938598 129938598 G T rs34587586 CPA4 Nonsynonymous SNV L27F 0.382 0.393 0.446 147 448 151 0.377 131 84 32 33 28 12.43 31231 chr8 12879334 12879334 T C rs608909 TRMT9B Synonymous SNV V256V 0.809 0.802 0.84 324 950 308 0.831 247 388 120 102 131 0.026 31232 chr8 12879539 12879539 A G rs608052 TRMT9B Nonsynonymous SNV R325G 0.807 0.802 0.84 324 947 308 0.831 247 387 120 102 131 1.243 31233 chr19 17439034 17439034 C T rs3745191 ANO8 Synonymous SNV P721P 0.058 0.081 0.054 27 68 31 0.069 16 1 1 0 1 9.121 31234 chr7 129950740 129950740 G T rs2171492 CPA4 Nonsynonymous SNV G270C 0.353 0.357 0.408 137 415 137 0.351 120 72 25 26 28 16.76 31235 chr19 18497137 18497137 G A rs6413435 GDF15 Synonymous SNV L46L 0.204 0.216 0.211 89 240 83 0.228 62 23 5 2 11 9.68 31236 chr19 32083699 32083699 C T rs1007263633 THEG5 Synonymous SNV A67A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.029 31237 chr8 12957475 12957475 C T rs532841 DLC1 Nonsynonymous SNV V280M 0.587 0.57 0.52 217 689 219 0.556 153 204 67 38 61 1.034 31238 chr19 327182 327182 C T rs7256086 MIER2 Synonymous SNV P112P 0.108 0.099 0.099 38 127 38 0.097 29 8 2 0 3 17.86 31239 chr19 18499151 18499151 C T rs1059022 GDF15 Synonymous SNV P111P 0.198 0.208 0.207 86 232 80 0.221 61 23 5 2 11 17.45 31240 chr19 2767192 2767192 G T rs1128925 SGTA Synonymous SNV P78P 0.263 0.245 0.068 89 309 94 0.228 20 37 20 5 10 4.009 31241 chr8 13356802 13356802 G A rs3816747 DLC1 Nonsynonymous SNV T260I 0.923 0.924 0.918 354 1084 355 0.908 270 499 165 125 164 0.001 31242 chr19 2808418 2808418 C T rs142167630 THOP1 Synonymous SNV H477H 0.005 0.008 0 6 6 3 0.015 0 0 0 0 0 17.24 31243 chr19 2820105 2820105 G A rs2537856 ZNF554 Synonymous SNV R12R 0.053 0.049 0.014 27 62 19 0.069 4 24 9 1 10 9.893 31244 chr19 17535472 17535472 G A rs35944915 MVB12A Nonsynonymous SNV D249N 0.06 0.06 0.027 17 71 23 0.044 8 4 0 0 0 33 31245 chr8 13356818 13356818 T C rs11203494 DLC1 Nonsynonymous SNV N255D 0.956 0.966 0.949 369 1122 371 0.946 279 536 180 133 175 0.001 31246 chr1 180144485 180144485 G A rs10913939 QSOX1 Synonymous SNV S132S 0.193 0.214 0.197 75 226 82 0.192 58 25 9 9 7 8.086 31247 chr19 1080896 1080896 C A rs377173699 ARHGAP45 Nonsynonymous SNV L310I 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 14.17 31248 chr7 129999473 129999473 G A rs143689037 CPA5 Nonsynonymous SNV R126Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 31249 chr19 18546944 18546944 G A rs145333990 ISYNA1 Synonymous SNV L163L 0.012 0.005 0.007 3 14 2 0.008 2 1 0 0 0 Benign 3.277 31250 chr19 11558275 11558275 G A rs11557488 PRKCSH Nonsynonymous SNV A291T 0.143 0.164 0.129 59 168 63 0.151 38 15 3 2 1 Benign 7.355 31251 chr8 13356819 13356819 T G rs11203495 DLC1 Nonsynonymous SNV Q254H 0.92 0.922 0.912 351 1080 354 0.9 268 495 164 124 161 0.004 31252 chr1 180148012 180148012 G C rs17855475 QSOX1 Nonsynonymous SNV G200A 0.193 0.214 0.197 75 227 82 0.192 58 25 9 9 7 31 31253 chr19 10078589 10078589 T C rs3815748 COL5A3 Synonymous SNV K1465K 0.179 0.164 0.153 73 210 63 0.187 45 21 10 2 6 3.621 31254 chr19 1080925 1080925 G A rs11551696 ARHGAP45 Synonymous SNV V319V 0.032 0.029 0.037 13 37 11 0.033 11 0 0 0 0 4.397 31255 chr19 33098632 33098632 G C rs2302970 ANKRD27 Nonsynonymous SNV P761R 0.503 0.469 0.517 188 590 180 0.482 152 150 44 39 47 13.3 31256 chr19 11558341 11558343 GAG - rs3217229 PRKCSH E325del 0.324 0.362 0.269 129 380 139 0.331 79 85 31 22 20 31257 chr8 13425353 13425353 T A rs11203497 C8orf48 Nonsynonymous SNV L285M 0.998 0.997 0.997 389 1172 383 0.997 293 585 191 146 194 0.021 31258 chr1 180159654 180159654 C T rs7521513 QSOX1 Synonymous SNV V409V 0.202 0.229 0.211 79 237 88 0.203 62 25 10 9 7 19.22 31259 chr1 180159657 180159657 C T rs1050154 QSOX1 Synonymous SNV L410L 0.202 0.229 0.211 79 237 88 0.203 62 25 10 9 7 17.21 31260 chr7 130023561 130023561 G A rs34474469 CPA1 Nonsynonymous SNV A208T 0.009 0.018 0.034 13 10 7 0.033 10 0 0 0 0 Benign 8.293 31261 chr1 180163390 180163390 A G rs12371 QSOX1 Nonsynonymous SNV H444R 0.11 0.109 0.126 31 129 42 0.079 37 9 4 4 1 0.001 31262 chr8 15978063 15978063 C T rs4338104 MSR1 Synonymous SNV R380R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.497 31263 chr19 33110204 33110204 T C rs2287669 ANKRD27 Nonsynonymous SNV S657G 0.513 0.479 0.534 188 602 184 0.482 157 157 47 41 48 0.687 31264 chr19 11916890 11916890 C T rs61736266 ZNF491 Nonsynonymous SNV T41I 0.02 0.005 0.031 3 23 2 0.008 9 0 0 0 0 0.058 31265 chr8 16859398 16859398 C G rs10448135 FGF20 Synonymous SNV A48A 0.7 0.651 0.69 262 822 250 0.672 203 328 87 75 100 15.23 31266 chr8 16885076 16885076 C G rs141378607 MICU3 Synonymous SNV T96T 0.049 0.068 0.031 19 58 26 0.049 9 4 6 2 1 8.085 31267 chr19 33117666 33117666 T C rs6510271 ANKRD27 Synonymous SNV G496G 0.672 0.625 0.65 238 789 240 0.61 191 271 77 60 73 0.03 31268 chr8 17157677 17157677 T G rs3764796 MTMR7 Nonsynonymous SNV Q559H 0.148 0.146 0.177 47 174 56 0.121 52 11 4 7 2 10.47 31269 chr19 11199942 11199942 G C rs753239072 LDLR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.145 31270 chr19 19006666 19006666 G C rs3746263 CERS1 Synonymous SNV A72A 0.18 0.125 0.197 107 211 48 0.274 58 102 23 27 51 Benign 4.852 31271 chr8 17163301 17163301 G A rs146868565 MTMR7 Synonymous SNV F439F 0.014 0.013 0.017 1 17 5 0.003 5 1 0 0 0 10.71 31272 chr1 180240510 180240510 T C rs2764449 LHX4-AS1 0.057 0.052 0.068 26 67 20 0.067 20 1 1 1 1 Benign 11.28 31273 chr8 17230644 17230644 G C rs7388581 MTMR7 Nonsynonymous SNV P44A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 31274 chr19 12462839 12462839 G A rs117612375 ZNF442 Nonsynonymous SNV P15L 0.028 0.026 0.014 8 33 10 0.021 4 1 0 0 0 8.454 31275 chr1 180886216 180886216 C T rs77695365 KIAA1614 Nonsynonymous SNV S326F 0.102 0.096 0.109 45 120 37 0.115 32 1 1 1 3 23.5 31276 chr8 17270787 17270787 A G rs67972978 MTMR7 Synonymous SNV R5R 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 14.24 31277 chr8 17486282 17486282 T C rs2229084 PDGFRL Synonymous SNV Y264Y 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.013 31278 chr19 1912817 1912817 C T rs35870594 ADAT3 Synonymous SNV Y241Y 0.117 0.099 0.061 34 137 38 0.087 18 10 1 0 2 6.476 31279 chr1 180905352 180905352 C T rs3795505 KIAA1614 Synonymous SNV S769S 0.451 0.383 0.449 173 529 147 0.444 132 118 30 31 36 6.987 31280 chr19 33372814 33372814 G A rs34626245 CEP89 Nonsynonymous SNV R691W 0.102 0.122 0.085 41 120 47 0.105 25 6 4 1 4 25.1 31281 chr8 17500223 17500223 T C rs4705 PDGFRL Synonymous SNV F347F 0.631 0.62 0.602 253 741 238 0.649 177 242 72 51 79 9.337 31282 chr19 1912934 1912934 T C rs12984675 ADAT3 Synonymous SNV T280T 0.201 0.177 0.173 63 236 68 0.162 51 21 6 4 3 0.577 31283 chr1 180905448 180905448 G T rs3795504 KIAA1614 Nonsynonymous SNV L801F 0.468 0.404 0.476 185 549 155 0.474 140 126 36 35 41 0.087 31284 chr8 17503431 17503431 G C rs1043883 MTUS1 Synonymous SNV T1217T 0.696 0.682 0.663 281 817 262 0.721 195 288 89 69 99 0.557 31285 chr19 11285231 11285231 G A rs148849463 KANK2 Synonymous SNV I670I 0.01 0.01 0.007 1 12 4 0.003 2 0 0 0 0 Benign 13.03 31286 chr8 17611886 17611886 G A rs2979788 MTUS1 Synonymous SNV P477P 0.848 0.865 0.861 332 995 332 0.851 253 421 145 111 140 0.474 31287 chr19 12768948 12768948 T C rs35836657 MAN2B1 Nonsynonymous SNV N413S 0.073 0.068 0.048 29 86 26 0.074 14 7 1 1 0 Benign 14.61 31288 chr8 17612456 17612456 C T rs11203910 MTUS1 Synonymous SNV K287K 0.945 0.943 0.952 370 1109 362 0.949 280 524 173 134 176 9.061 31289 chr8 17612846 17612846 T C rs3739408 MTUS1 Synonymous SNV L157L 0.13 0.141 0.133 61 153 54 0.156 39 13 5 1 5 1.353 31290 chr19 334474 334474 T G rs11084956 MIER2 Synonymous SNV R21R 0.112 0.102 0.109 38 132 39 0.097 32 8 2 0 3 1.39 31291 chr19 3119239 3119239 C T rs4900 GNA11 Synonymous SNV T257T 0.473 0.44 0.497 167 555 169 0.428 146 127 37 35 30 Benign 14.3 31292 chr8 17918934 17918934 A G rs10103355 ASAH1 Nonsynonymous SNV V240A 0.986 0.977 0.966 380 1157 375 0.974 284 570 184 138 185 Benign 14.1 31293 chr1 181058313 181058313 G A rs3747955 IER5 Nonsynonymous SNV R92H 0.213 0.156 0.388 81 250 60 0.208 114 89 21 26 25 6.074 31294 chr19 33467413 33467413 C T rs2304103 FAAP24 Nonsynonymous SNV S63L 0.085 0.102 0.065 29 100 39 0.074 19 4 2 1 2 2.31 31295 chr19 17837881 17837881 G A rs114186156 MAP1S Nonsynonymous SNV R537H 0.014 0.016 0.007 2 16 6 0.005 2 0 0 0 0 22.9 31296 chr19 19375634 19375634 T C TM6SF2 Nonsynonymous SNV T325A 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 31297 chr19 3148865 3148865 - CAGGG rs201896289 LOC100996351 0.02 0.018 0.007 8 23 7 0.021 2 0 1 0 0 31298 chr8 17927327 17927327 T C rs1049874 ASAH1 Nonsynonymous SNV I28V 0.558 0.549 0.272 233 655 211 0.597 80 177 60 29 69 Benign 0.001 31299 chr19 10204175 10204175 G A rs147149731 ANGPTL6 Nonsynonymous SNV R358C 0.013 0.013 0 5 15 5 0.013 0 1 0 0 0 22.6 31300 chr8 17928811 17928811 C T rs1071645 ASAH1 Nonsynonymous SNV V7M 0.471 0.464 0.537 212 553 178 0.544 158 171 57 40 68 Benign 0.917 31301 chr19 31768416 31768416 A G rs3745784 TSHZ3 Synonymous SNV A761A 0.185 0.164 0.19 93 217 63 0.238 56 16 3 4 9 0.021 31302 chr19 11332570 11332570 T A rs3810307 DOCK6 Synonymous SNV L1169L 0.141 0.161 0.146 66 165 62 0.169 43 14 6 2 4 Benign 6.506 31303 chr19 31769293 31769293 T C rs143453460 TSHZ3 Nonsynonymous SNV E469G 0.044 0.039 0.031 28 52 15 0.072 9 2 0 0 0 18.17 31304 chr8 17930772 17930772 C T rs3753115 ASAH1 Nonsynonymous SNV V63I 0.556 0.547 0.449 231 653 210 0.592 132 175 60 40 68 Benign 1.635 31305 chr8 18257795 18257795 C T rs1041983 NAT2 Synonymous SNV Y94Y 0.366 0.328 0.313 108 430 126 0.277 92 83 23 19 17 drug response 1.311 31306 chr19 20116963 20116963 C T rs17679334 ZNF682 Nonsynonymous SNV V418I 0.227 0.221 0.15 92 267 85 0.236 44 37 7 5 12 13.8 31307 chr19 18255450 18255450 G A MAST3 Nonsynonymous SNV G891D 0.003 0 0 0 3 0 0 0 0 0 0 0 22 31308 chr1 182496829 182496829 A G rs7535533 RGSL1 Nonsynonymous SNV I683V 0.411 0.44 0.456 182 483 169 0.467 134 110 38 33 45 0.003 31309 chr8 18258103 18258103 G A rs1799930 NAT2 Nonsynonymous SNV R197Q 0.324 0.299 0.279 93 380 115 0.238 82 71 20 15 11 drug response 25.5 31310 chr19 12939525 12939525 C T rs147174126 RTBDN Nonsynonymous SNV R104Q 0.015 0.008 0.014 3 18 3 0.008 4 0 0 0 0 14.17 31311 chr7 134925411 134925411 G A rs7805859 STRA8 Synonymous SNV A45A 0.468 0.51 0.483 179 550 196 0.459 142 122 47 34 38 11.21 31312 chr8 18258316 18258316 G A rs1208 NAT2 Nonsynonymous SNV R268K 0.629 0.594 0.592 231 739 228 0.592 174 230 69 50 62 0.008 31313 chr1 182554557 182554557 C T rs486907 RNASEL Nonsynonymous SNV R462Q 0.35 0.37 0.405 147 411 142 0.377 119 75 22 19 25 risk factor 22.9 31314 chr19 20229486 20229486 G A rs1725935 ZNF90 Nonsynonymous SNV G375S 0.128 0.107 0.184 32 150 41 0.082 54 4 3 5 0 23.7 31315 chr7 135082953 135082953 G C rs77841106 CNOT4 Nonsynonymous SNV L280V 0.071 0.065 0.058 16 83 25 0.041 17 3 1 0 1 18.16 31316 chr19 33089261 33089262 CA - rs745908469 ANKRD27 L981Qfs*4 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 31317 chr8 18656805 18656805 G A rs2306825 PSD3 Synonymous SNV H160H 0.155 0.154 0.143 67 182 59 0.172 42 8 3 4 6 9.574 31318 chr19 336102 336102 C T rs35953308 MIER2 Synonymous SNV P27P 0.078 0.076 0.075 38 91 29 0.097 22 0 0 1 3 16.48 31319 chr19 17953950 17953950 G C rs55778349 JAK3 Nonsynonymous SNV P151R 0.028 0.029 0.017 10 33 11 0.026 5 2 0 0 0 Benign/Likely benign 0.043 31320 chr8 18725428 18725428 A G rs17127370 PSD3 Synonymous SNV L431L 0.044 0.039 0.071 22 52 15 0.056 21 1 0 0 0 3.772 31321 chr19 33617583 33617583 C T rs6510356 GPATCH1 Synonymous SNV S903S 0.164 0.203 0.19 61 192 78 0.156 56 14 10 5 4 13.81 31322 chr1 182571128 182571128 C T RGS16 Synonymous SNV E120E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 31323 chr8 18729459 18729459 T C rs13273954 PSD3 Synonymous SNV E272E 0.178 0.177 0.184 63 209 68 0.162 54 13 8 8 1 0.129 31324 chr19 13264398 13264398 C T rs1042164 IER2 Nonsynonymous SNV A133V 0.095 0.094 0.082 38 112 36 0.097 24 6 2 1 3 12.34 31325 chr1 183184690 183184690 C T rs11586699 LAMC2 Nonsynonymous SNV T124M 0.17 0.138 0.184 80 199 53 0.205 54 17 7 8 5 Benign 26.8 31326 chr8 18729529 18729529 C G rs78452893 PSD3 Nonsynonymous SNV G249A 0.048 0.036 0.071 23 56 14 0.059 21 1 0 0 0 0.005 31327 chr19 33647379 33647379 T C rs11881580 WDR88 Nonsynonymous SNV C310R 0.109 0.112 0.105 55 128 43 0.141 31 7 2 1 5 0.002 31328 chr1 183195875 183195875 C T rs201674416 LAMC2 Nonsynonymous SNV P370L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 31329 chr8 18729817 18729817 G A rs7016219 PSD3 Nonsynonymous SNV T153M 0.769 0.729 0.745 288 903 280 0.738 219 345 98 81 103 0.06 31330 chr7 135329690 135329690 T C rs12540688 NUP205 Synonymous SNV A1511A 0.158 0.135 0.19 68 186 52 0.174 56 15 3 8 5 5.765 31331 chr19 33285684 33285684 G A rs34982176 TDRD12 Nonsynonymous SNV G480R 0.024 0.013 0.017 13 28 5 0.033 5 0 0 0 0 10.84 31332 chr19 33693785 33693785 G A rs1056034 LRP3 Synonymous SNV T51T 0.084 0.112 0.068 30 99 43 0.077 20 1 1 0 1 15.95 31333 chr8 18729818 18729818 T G rs7003060 PSD3 Nonsynonymous SNV T153P 0.769 0.729 0.745 288 903 280 0.738 219 345 98 81 103 0.018 31334 chr19 13879261 13879261 G A rs142646684 MRI1 Nonsynonymous SNV G154S 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 1.738 31335 chr19 33696354 33696354 C T rs3745977 LRP3 Synonymous SNV R226R 0.084 0.109 0.068 30 99 42 0.077 20 1 1 0 1 10.18 31336 chr8 19221700 19221700 G A rs34608771 SH2D4A Nonsynonymous SNV S230N 0.304 0.352 0.303 113 357 135 0.29 89 54 26 12 13 2.341 31337 chr19 33696621 33696621 C T rs3745975 LRP3 Synonymous SNV G315G 0.085 0.109 0.068 30 100 42 0.077 20 1 1 0 1 9.548 31338 chr19 33324089 33324089 G A rs34347941 SLC7A9 Synonymous SNV V455V 0.052 0.036 0.054 27 61 14 0.069 16 1 0 1 2 Likely benign 10.19 31339 chr7 138305806 138305806 T C rs3734944 SVOPL Synonymous SNV A294A 0.286 0.286 0.248 99 336 110 0.254 73 52 20 7 16 4.246 31340 chr1 183909717 183909717 G A rs2296713 COLGALT2 Synonymous SNV P534P 0.204 0.174 0.262 85 239 67 0.218 77 24 6 7 12 12.67 31341 chr8 19315999 19315999 G T rs199793347 CSGALNACT1 Synonymous SNV I263I 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 9.536 31342 chr19 33697546 33697546 C T rs1056041 LRP3 Synonymous SNV F544F 0.084 0.109 0.068 30 99 42 0.077 20 1 1 0 1 18.54 31343 chr1 184020945 184020945 G A rs2274432 TSEN15 Nonsynonymous SNV G19D 0.325 0.313 0.224 119 382 120 0.305 66 55 25 13 21 8.812 31344 chr7 138312122 138312122 A C rs2305816 SVOPL Nonsynonymous SNV F233C 0.657 0.677 0.68 280 771 260 0.718 200 250 91 73 99 28.6 31345 chr8 19362768 19362768 C T rs7017776 CSGALNACT1 Nonsynonymous SNV S193N 0.733 0.763 0.741 298 861 293 0.764 218 320 117 80 114 0.002 31346 chr1 184023529 184023529 A C rs1046934 TSEN15 Nonsynonymous SNV Q59H 0.325 0.313 0.299 118 382 120 0.303 88 56 25 15 20 21.3 31347 chr8 19677915 19677915 G A rs7822495 INTS10 Synonymous SNV R109R 0.263 0.266 0.238 90 309 102 0.231 70 41 15 9 14 12.8 31348 chr19 33444707 33444707 C T rs10411735 CEP89 Synonymous SNV R102R 0.336 0.328 0.269 139 394 126 0.356 79 58 23 13 25 11.48 31349 chr19 33700281 33700281 C A rs2303094 SLC7A10 Synonymous SNV T458T 0.083 0.107 0.065 26 97 41 0.067 19 1 1 0 1 12.51 31350 chr7 138406746 138406746 C A rs150777839 ATP6V0A4 Nonsynonymous SNV D679Y 0.015 0.013 0.014 6 18 5 0.015 4 0 0 0 0 Benign/Likely benign 19.09 31351 chr8 20036713 20036713 A G rs1390938 SLC18A1 Nonsynonymous SNV I136T 0.784 0.786 0.721 314 921 302 0.805 212 361 117 79 126 11.63 31352 chr19 33792631 33792631 C A rs34529039 CEBPA Synonymous SNV T111T 0.189 0.151 0.167 57 222 58 0.146 49 22 5 6 3 Benign 11.51 31353 chr19 33467357 33467357 G A rs2304102 FAAP24 Synonymous SNV E44E 0.338 0.339 0.323 149 397 130 0.382 95 61 24 17 27 11.58 31354 chr19 14164527 14164527 G C rs61749577 PALM3 Nonsynonymous SNV P587A 0.05 0.023 0.034 14 59 9 0.036 10 4 0 0 0 5.146 31355 chr1 184801065 184801065 T C rs487675 NIBAN1 Synonymous SNV Q211Q 0.296 0.32 0.337 108 348 123 0.277 99 56 22 13 13 3.461 31356 chr8 20036827 20036827 C G rs2270637 SLC18A1 Nonsynonymous SNV S98T 0.121 0.089 0.122 48 142 34 0.123 36 9 2 3 5 0.002 31357 chr1 185143721 185143721 A G rs10489579 SWT1 Nonsynonymous SNV I148V 0.287 0.292 0.299 107 337 112 0.274 88 43 18 9 16 0.145 31358 chr19 33882222 33882222 G A rs17569 PEPD Synonymous SNV H336H 0.108 0.135 0.099 40 127 52 0.103 29 7 4 3 1 Benign 11.53 31359 chr8 20038466 20038466 T G rs2270641 SLC18A1 Nonsynonymous SNV T4P 0.398 0.448 0.378 180 467 172 0.462 111 90 41 19 41 1.671 31360 chr1 185171869 185171869 A G rs6698109 SWT1 Nonsynonymous SNV H536R 0.281 0.292 0.296 103 330 112 0.264 87 41 18 7 15 0.098 31361 chr19 34832747 34832747 G A rs35577851 KIAA0355 Synonymous SNV K636K 0.027 0.036 0.014 6 32 14 0.015 4 0 0 0 0 8.085 31362 chr19 34843754 34843765 CCCCACCCCAGC - rs527829371 KIAA0355 Q1039_P1042del 0.007 0.013 0.003 2 8 5 0.005 1 0 0 0 0 31363 chr8 20110665 20110665 G A rs35053302 LZTS1 Synonymous SNV D259D 0.032 0.039 0.037 9 38 15 0.023 11 1 0 0 0 8.35 31364 chr1 1859131 1859131 C T rs4648734 CFAP74 Nonsynonymous SNV V1148I 0.267 0.234 0.211 111 314 90 0.285 62 45 8 9 18 0.012 31365 chr19 34959979 34959979 A G rs7259160 UBA2 Synonymous SNV S592S 0.841 0.805 0.847 309 987 309 0.792 249 418 123 109 121 0.091 31366 chr19 22154954 22154954 C T rs2214301 ZNF208 Nonsynonymous SNV S961N 0.4 0.419 0.415 165 470 161 0.423 122 95 31 30 34 0.032 31367 chr8 21766900 21766900 G A rs17853066 DOK2 Synonymous SNV A233A 0.133 0.141 0.139 42 156 54 0.108 41 8 1 2 2 3.338 31368 chr1 186026474 186026474 T C rs12129650 HMCN1 Nonsynonymous SNV I2418T 0.579 0.596 0.554 229 680 229 0.587 163 194 66 43 67 Benign 22.6 31369 chr19 34302280 34302280 C G rs10426916 KCTD15 Synonymous SNV R172R 0.129 0.099 0.126 47 152 38 0.121 37 12 1 3 4 15.92 31370 chr8 21767275 21767275 C G rs2242240 DOK2 Synonymous SNV A108A 0.168 0.148 0.177 51 197 57 0.131 52 19 1 3 4 9.294 31371 chr19 3543397 3543397 C T rs12608919 C19orf71 Nonsynonymous SNV P83L 0.361 0.331 0.272 133 424 127 0.341 80 78 26 6 24 0.003 31372 chr8 21833965 21833965 C T rs2306641 XPO7 Synonymous SNV I210I 0.391 0.359 0.401 155 459 138 0.397 118 86 20 21 33 15.73 31373 chr8 21846586 21846586 G C rs2306646 XPO7 Synonymous SNV L598L 0.554 0.518 0.575 215 650 199 0.551 169 179 48 45 57 4.979 31374 chr19 12877011 12877011 T G rs201910676 HOOK2 Synonymous SNV R473R 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 12.24 31375 chr8 21862551 21862551 A G rs1058486 XPO7 Synonymous SNV S1050S 0.555 0.516 0.571 216 652 198 0.554 168 181 49 46 57 1.907 31376 chr8 21955116 21955116 C T rs11352 FAM160B2 Synonymous SNV V129V 0.487 0.536 0.418 201 572 206 0.515 123 146 53 32 49 9.617 31377 chr7 138601826 138601826 G A rs2251220 KIAA1549 Nonsynonymous SNV S849L 0.387 0.417 0.398 156 454 160 0.4 117 90 37 27 36 14.03 31378 chr8 21956108 21956108 A G rs35497596 FAM160B2 Nonsynonymous SNV T314A 0.498 0.547 0.48 204 585 210 0.523 141 150 56 33 51 0.282 31379 chr1 186273994 186273994 C T rs2273779 PRG4 Nonsynonymous SNV R139W 0.25 0.255 0.276 100 293 98 0.256 81 72 23 17 24 Benign 25.4 31380 chr19 12975884 12975884 C T rs35952311 MAST1 Synonymous SNV H510H 0.013 0.013 0.003 3 15 5 0.008 1 0 0 0 0 Benign 10.45 31381 chr7 138602417 138602417 G A rs2774960 KIAA1549 Nonsynonymous SNV P652L 0.381 0.411 0.391 156 447 158 0.4 115 86 37 25 36 13.62 31382 chr8 21965113 21965113 T C rs3739435 NUDT18 Nonsynonymous SNV M224V 0.357 0.344 0.361 139 419 132 0.356 106 77 26 18 22 0.001 31383 chr19 34973476 34973476 G A rs8107479 WTIP Synonymous SNV E199E 0.336 0.214 0.361 142 395 82 0.364 106 193 38 51 68 0.494 31384 chr1 186276661 186276661 A G rs61831150 PRG4 Nonsynonymous SNV T470A 0.376 0.37 0.347 143 441 142 0.367 102 75 24 19 27 0.002 31385 chr8 21966701 21966701 C - rs57316099 NUDT18 L38Cfs*22 0.995 0.995 0.643 387 1168 382 0.992 189 584 191 94 193 31386 chr8 21966708 21966708 G - rs58343576 NUDT18 0.997 0.995 0.656 387 1170 382 0.992 193 585 191 96 193 31387 chr8 21974427 21974427 G T rs112173147 HR Synonymous SNV P1113P 0.079 0.094 0.068 31 93 36 0.079 20 3 1 2 3 Benign 9.983 31388 chr1 186277989 186277989 A G rs3737940 PRG4 Synonymous SNV P912P 0.375 0.37 0.371 142 440 142 0.364 109 75 24 20 26 Benign 0.471 31389 chr7 138602916 138602916 G C rs2718131 KIAA1549 Nonsynonymous SNV P486A 0.288 0.307 0.296 124 338 118 0.318 87 42 20 16 21 23.5 31390 chr19 14857055 14857055 G A rs58281547 ADGRE2 Synonymous SNV L666L 0.074 0.057 0.041 24 87 22 0.062 12 3 1 0 0 3.33 31391 chr8 21984650 21984650 A G rs12675745 HR Synonymous SNV F435F 0.599 0.641 0.602 244 703 246 0.626 177 219 79 52 81 Benign 0.009 31392 chr1 186321242 186321242 C T rs61744267 TPR Nonsynonymous SNV V779I 0.145 0.13 0.15 54 170 50 0.138 44 8 2 3 4 23 31393 chr8 21984945 21984945 C T rs12675375 HR Nonsynonymous SNV G337D 0.383 0.419 0.388 148 450 161 0.379 114 89 32 22 25 Benign 0.89 31394 chr7 138713476 138713476 C T rs17856272 ZC3HAV1L Nonsynonymous SNV M244I 0.141 0.151 0.095 56 166 58 0.144 28 5 4 1 5 17.28 31395 chr8 22054197 22054197 T C rs2229777 BMP1 Synonymous SNV A590A 0.089 0.117 0.075 41 104 45 0.105 22 3 2 0 2 Benign 2.721 31396 chr19 2278999 2278999 G A rs145205195 PEAK3 Nonsynonymous SNV R66W 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24.2 31397 chr19 35435069 35435069 A G rs765746 ZNF30 Nonsynonymous SNV Y401C 0.213 0.219 0.18 90 250 84 0.231 53 28 7 5 12 23.3 31398 chr19 13211508 13211508 C T rs142687463 LYL1 Synonymous SNV K130K 0.013 0.01 0.007 5 15 4 0.013 2 0 0 0 0 13.72 31399 chr8 22079355 22079355 A G rs4872422 PHYHIP Synonymous SNV S168S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.295 31400 chr8 22084503 22084503 C T rs11547656 PHYHIP Synonymous SNV P67P 0.423 0.393 0.449 180 497 151 0.462 132 103 28 34 48 14.13 31401 chr19 35435589 35435589 C T rs3761066 ZNF30 Synonymous SNV C574C 0.224 0.224 0.184 92 263 86 0.236 54 30 8 5 15 13.05 31402 chr8 22105502 22105502 T C rs1126677 POLR3D Synonymous SNV A114A 0.735 0.753 0.769 281 863 289 0.721 226 308 110 86 106 4.986 31403 chr19 18375608 18375608 G A rs8102923 IQCN Synonymous SNV A914A 0.097 0.07 0.146 32 114 27 0.082 43 11 0 4 2 6.204 31404 chr19 35449082 35449082 G A rs3746243 ZNF792 Synonymous SNV D559D 0.225 0.227 0.19 92 264 87 0.236 56 31 8 6 14 0.528 31405 chr8 22107986 22107986 A G rs75142930 POLR3D Synonymous SNV V384V 0.03 0.021 0.027 12 35 8 0.031 8 0 0 0 1 12.51 31406 chr19 18375815 18375815 G A rs8103177 IQCN Synonymous SNV N845N 0.097 0.07 0.146 32 114 27 0.082 43 11 0 4 2 6.087 31407 chr19 14877816 14877816 T A rs12985807 ADGRE2 Nonsynonymous SNV K154I 0.212 0.203 0.201 80 249 78 0.205 59 123 38 27 39 0.056 31408 chr8 22262229 22262234 GCTGCT - rs111662782 SLC39A14 L5_L6del 0.173 0.161 0.16 64 203 62 0.164 47 16 6 4 6 31409 chr7 139138871 139138871 T G rs11763327 KLRG2 Synonymous SNV P365P 0.327 0.336 0.425 146 384 129 0.374 125 93 32 35 37 0.108 31410 chr19 18375846 18375846 G A rs2277921 IQCN Nonsynonymous SNV P835L 0.097 0.07 0.146 32 114 27 0.082 43 11 0 4 2 2.942 31411 chr8 22262321 22262321 T C rs896378 SLC39A14 Nonsynonymous SNV L33P 0.471 0.505 0.452 180 553 194 0.462 133 137 51 31 45 1.183 31412 chr8 22262379 22262379 C T rs33999442 SLC39A14 Synonymous SNV G52G 0.169 0.159 0.156 64 198 61 0.164 46 16 6 4 6 14.07 31413 chr19 18375882 18375882 G C rs12608777 IQCN Nonsynonymous SNV P823R 0.065 0.049 0.078 19 76 19 0.049 23 5 0 2 0 13.6 31414 chr19 18943156 18943156 G A rs80065570 UPF1 Synonymous SNV T46T 0.064 0.057 0.031 24 75 22 0.062 9 5 0 0 1 10.99 31415 chr19 23542290 23542290 A G rs428549 ZNF91 Nonsynonymous SNV L1132P 0.226 0.268 0.048 87 265 103 0.223 14 34 10 5 7 11.27 31416 chr8 22262418 22262418 A G rs2293144 SLC39A14 Synonymous SNV L65L 0.473 0.505 0.459 180 555 194 0.462 135 137 51 33 45 3.53 31417 chr19 3586543 3586543 G A rs8113232 GIPC3 Synonymous SNV L92L 0.104 0.096 0.095 34 122 37 0.087 28 5 4 0 3 Benign 9.783 31418 chr19 18956920 18956920 C T rs748049113 UPF1 Synonymous SNV H121H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.49 31419 chr7 139316360 139316360 C T rs28579164 HIPK2 Synonymous SNV S405S 0.198 0.141 0.139 74 233 54 0.19 41 25 2 3 5 18.36 31420 chr19 3595006 3595006 A G rs34486470 TBXA2R Nonsynonymous SNV L351P 0.106 0.096 0.034 45 125 37 0.115 10 12 0 2 3 Benign 17.45 31421 chr8 22428658 22428658 T C rs2449331 SORBS3 Nonsynonymous SNV I214T 0.944 0.964 0.956 370 1108 370 0.949 281 523 179 134 175 0.011 31422 chr19 18376517 18376517 C T rs61740752 IQCN Synonymous SNV Q611Q 0.066 0.049 0.078 19 77 19 0.049 23 5 0 2 0 4.272 31423 chr19 3595032 3595032 C T rs5758 TBXA2R Synonymous SNV T342T 0.539 0.521 0.119 187 633 200 0.479 35 166 49 17 40 Benign 4.703 31424 chr19 23542291 23542291 G C rs385750 ZNF91 Nonsynonymous SNV L1132V 0.226 0.268 0.048 87 265 103 0.223 14 34 10 5 7 0.013 31425 chr1 190707580 190707580 A T rs79312575 LINC01720 0 0 0.003 0 0 0 0 1 0 0 0 0 2.071 31426 chr8 22463623 22463623 C T rs7843828 CCAR2 Synonymous SNV G28G 0.302 0.336 0.306 122 355 129 0.313 90 51 16 14 16 13.67 31427 chr8 22471824 22471824 G A rs3736147 CCAR2 Synonymous SNV S308S 0.3 0.333 0.299 121 352 128 0.31 88 48 16 14 16 9.563 31428 chr19 23543834 23543834 C T rs7255296 ZNF91 Synonymous SNV K617K 0.153 0.18 0.177 60 180 69 0.154 52 16 6 4 2 7.099 31429 chr8 22481449 22481449 A G rs1871900 BIN3 Synonymous SNV F150F 0.401 0.443 0.456 157 471 170 0.403 134 92 35 29 27 0.024 31430 chr19 23544625 23544625 C T rs403356 ZNF91 Nonsynonymous SNV A354T 0.063 0.07 0.01 27 74 27 0.069 3 0 0 0 0 9.578 31431 chr19 3600390 3600390 G A rs5745 TBXA2R Synonymous SNV T81T 0.1 0.094 0.126 43 117 36 0.11 37 10 0 1 2 Benign 3.446 31432 chr8 22584718 22584718 T C rs1129474 PEBP4 Nonsynonymous SNV K125E 0.44 0.466 0.425 167 517 179 0.428 125 107 39 27 37 9.832 31433 chr19 23545004 23545004 G A rs296092 ZNF91 Synonymous SNV I227I 0.233 0.271 0.265 85 273 104 0.218 78 32 10 13 5 0.975 31434 chr8 22864622 22864622 T C rs2466178 RHOBTB2 Synonymous SNV S295S 0.849 0.862 0.867 329 997 331 0.844 255 423 139 111 139 8.905 31435 chr19 19164983 19164983 C T rs142816550 ARMC6 Synonymous SNV I267I 0.03 0.026 0.027 8 35 10 0.021 8 0 0 0 0 12.79 31436 chr8 22886020 22886020 A G rs13265018 TNFRSF10B Nonsynonymous SNV V191A 0.909 0.896 0.864 344 1067 344 0.882 254 485 153 108 153 0.001 31437 chr19 18377761 18377761 A G rs12609001 IQCN Nonsynonymous SNV C197R 0.065 0.049 0.078 19 76 19 0.049 23 5 0 2 0 0.021 31438 chr19 36018407 36018407 T C rs750542574 SBSN Synonymous SNV R259R 0.115 0.112 0.116 53 135 43 0.136 34 0 0 0 0 0.214 31439 chr8 22926313 22926313 G A rs1129424 TNFRSF10B Nonsynonymous SNV P32L 0.514 0.536 0.558 222 603 206 0.569 164 150 53 51 61 0.01 31440 chr19 36018413 36018413 T A rs368150998 SBSN Synonymous SNV A257A 0.112 0.104 0.105 54 132 40 0.138 31 0 0 0 0 2.335 31441 chr19 35648365 35648365 T G rs1688005 FXYD5 Nonsynonymous SNV S35A 0.243 0.195 0.177 107 285 75 0.274 52 44 5 5 15 0.001 31442 chr8 22960704 22960704 G C rs6557616 LOC254896 0.756 0.74 0.765 295 888 284 0.756 225 337 102 81 112 8.087 31443 chr19 23837195 23837195 T C rs77385655 ZNF675 Synonymous SNV S180S 0.126 0.135 0.041 56 148 52 0.144 12 9 2 3 4 0.838 31444 chr8 22960873 22960873 G C rs10109912 LOC254896 0.276 0.253 0.255 124 324 97 0.318 75 46 11 9 11 3.433 31445 chr19 36134208 36134208 G A rs2285419 ETV2 Nonsynonymous SNV D90N 0.076 0.081 0.078 31 89 31 0.079 23 2 1 1 0 23.7 31446 chr19 35719020 35719020 C T rs541169 FAM187B Stop gain W188X 0.366 0.339 0.364 149 430 130 0.382 107 86 24 18 37 35 31447 chr7 140244560 140244560 C T rs2293177 DENND2A Nonsynonymous SNV E729K 0.393 0.375 0.378 163 461 144 0.418 111 98 25 23 37 24.8 31448 chr8 23001988 23001988 A G rs1133782 TNFRSF10D Nonsynonymous SNV L310S 0.558 0.589 0.605 207 655 226 0.531 178 178 65 53 57 0.003 31449 chr19 1986520 1986520 G A rs7253519 BTBD2 Synonymous SNV D515D 0.118 0.141 0.119 42 138 54 0.108 35 8 4 1 0 13.08 31450 chr19 36159368 36159368 T G rs2267586 UPK1A Nonsynonymous SNV S33A 0.087 0.096 0.068 32 102 37 0.082 20 6 0 1 2 18.6 31451 chr8 23049292 23049292 C T rs2230229 TNFRSF10A Nonsynonymous SNV R441K 0.818 0.836 0.878 325 960 321 0.833 258 399 131 113 132 0.011 31452 chr19 14200109 14200109 T C rs8062 SAMD1 Synonymous SNV E234E 0.071 0.081 0.085 17 83 31 0.044 25 2 2 2 1 0.412 31453 chr1 19480431 19480431 G C rs774544890 UBR4 Nonsynonymous SNV S2154C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 31454 chr19 35757427 35757427 G A rs34259399 LSR Nonsynonymous SNV S255N 0.128 0.125 0.156 52 150 48 0.133 46 15 4 2 6 5.952 31455 chr19 23926916 23926916 T C rs1852432 ZNF681 Nonsynonymous SNV K479R 0.128 0.138 0.085 58 150 53 0.149 25 10 2 2 4 22.1 31456 chr8 23058220 23058220 T G rs20576 TNFRSF10A Nonsynonymous SNV E228A 0.216 0.227 0.241 86 254 87 0.221 71 23 10 6 6 1.344 31457 chr19 14218611 14218611 G A rs35931031 PRKACA Synonymous SNV P62P 0.073 0.091 0 18 86 35 0.046 0 2 2 0 1 6.271 31458 chr1 19499560 19499560 T C rs16862578 UBR4 Nonsynonymous SNV T1107A 0.204 0.193 0.18 78 240 74 0.2 53 18 12 3 5 7.768 31459 chr19 36206050 36206050 A C rs2227278 ZBTB32 Nonsynonymous SNV R174S 0.093 0.112 0.078 33 109 43 0.085 23 6 0 1 2 0.001 31460 chr7 141137460 141137460 C T rs13233459 TMEM178B Synonymous SNV L183L 0.413 0.349 0.35 147 485 134 0.377 103 100 25 17 28 14.94 31461 chr19 14231325 14231325 C G rs8102267 ASF1B Synonymous SNV G185G 0.075 0.091 0.139 20 88 35 0.051 41 2 2 5 1 9.422 31462 chr7 141170529 141170529 A C rs182507206 TMEM178B Nonsynonymous SNV Q276H 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 21.7 31463 chr8 23059324 23059324 C G rs20575 TNFRSF10A Nonsynonymous SNV R209T 0.424 0.414 0.418 183 498 159 0.469 123 109 28 25 40 0.002 31464 chr1 19566881 19566881 C T rs12084825 EMC1 Synonymous SNV E210E 0.193 0.195 0.184 77 226 75 0.197 54 15 14 3 5 18.84 31465 chr19 14231330 14231330 A G rs8102698 ASF1B Synonymous SNV L184L 0.075 0.091 0.139 20 88 35 0.051 41 2 2 5 1 6.589 31466 chr7 141408581 141408581 A C rs35672788 WEE2 Nonsynonymous SNV K8T 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 1.588 31467 chr19 36222857 36222857 C T rs16970649 KMT2B Nonsynonymous SNV P1829L 0.089 0.115 0.075 34 105 44 0.087 22 6 0 1 2 22.8 31468 chr8 23060256 23060256 T C rs17620 TNFRSF10A Nonsynonymous SNV H141R 0.422 0.419 0.418 181 496 161 0.464 123 107 30 25 38 0.001 31469 chr19 14574959 14574959 G A rs2230538 PKN1 Synonymous SNV S575S 0.04 0.042 0.044 11 47 16 0.028 13 1 1 0 0 12.17 31470 chr19 36223747 36223747 A G rs73590585 KMT2B Synonymous SNV A2099A 0.088 0.112 0.078 33 103 43 0.085 23 6 0 1 2 9.844 31471 chr19 14580328 14580328 A G rs2230539 PKN1 Nonsynonymous SNV I718V 0.046 0.044 0.054 12 54 17 0.031 16 2 1 0 0 0.002 31472 chr8 23146095 23146095 A G rs11546682 R3HCC1 Nonsynonymous SNV H20R 0.28 0.294 0.333 112 329 113 0.287 98 49 16 18 16 20.1 31473 chr19 36224161 36224161 C A rs112013670 KMT2B Synonymous SNV G2237G 0.083 0.109 0.061 33 97 42 0.085 18 6 0 1 2 Benign 5.905 31474 chr19 10671075 10671075 C T rs770779805 KRI1 Nonsynonymous SNV R238Q 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 12.48 31475 chr8 23147564 23147564 G A rs3808536 R3HCC1, R3HCC1 Nonsynonymous SNV R145K 0.506 0.526 0.565 198 594 202 0.508 166 154 49 49 52 14.88 31476 chr19 24310032 24310032 A T rs61737180 ZNF254 Nonsynonymous SNV E325D 0.147 0.135 0.092 67 172 52 0.172 27 11 3 3 4 18.24 31477 chr19 36230767 36230767 A G rs34562867 IGFLR1 Nonsynonymous SNV W189R 0.089 0.104 0.071 32 104 40 0.082 21 6 0 1 2 0.002 31478 chr19 15222492 15222492 G A rs33980637 SYDE1 Synonymous SNV Q422Q 0.063 0.065 0.078 28 74 25 0.072 23 3 1 2 0 8.777 31479 chr8 23148930 23148930 A G rs2272762 R3HCC1 Synonymous SNV T303T 0.511 0.539 0.582 199 600 207 0.51 171 157 55 51 55 0.024 31480 chr19 35998362 35998362 T G rs4254439 DMKN Synonymous SNV R315R 0.294 0.279 0.323 113 345 107 0.29 95 54 15 14 13 8.962 31481 chr8 23148940 23148940 G A rs2272761 R3HCC1 Nonsynonymous SNV V307M 0.504 0.523 0.568 193 592 201 0.495 167 153 50 49 51 5.015 31482 chr19 3624005 3624005 G A rs55862054 CACTIN Nonsynonymous SNV S108L 0.066 0.078 0.071 33 77 30 0.085 21 2 0 0 1 22.1 31483 chr19 36002362 36002412 CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG - rs56743379 DMKN S274_S290del 0.168 0.164 0.133 56 197 63 0.144 39 13 3 4 2 31484 chr19 2732924 2732924 G A rs35594294 SLC39A3 Nonsynonymous SNV P257L 0.007 0 0 0 8 0 0 0 0 0 0 0 18.13 31485 chr19 18888150 18888150 C T rs78830644 CRTC1 Synonymous SNV A621A 0.058 0.047 0.061 18 68 18 0.046 18 1 0 0 1 18.72 31486 chr19 36002393 36002393 C T rs11667007 DMKN Nonsynonymous SNV G280S 0.055 0.076 0.014 29 64 29 0.074 4 3 1 0 2 0.474 31487 chr8 23148978 23148978 G T rs2272760 R3HCC1 Synonymous SNV V319V 0.272 0.284 0.333 103 319 109 0.264 98 45 16 18 15 9.808 31488 chr19 36002421 36002421 - CTGCTGCTG rs763222290 DMKN G270_G271insSSS 0.042 0.055 0.024 22 49 21 0.056 7 2 0 1 0 31489 chr8 23150878 23150878 T G rs13530 R3HCC1 Nonsynonymous SNV L363R 0.509 0.529 0.568 195 597 203 0.5 167 155 51 49 51 24.5 31490 chr19 36002710 36002710 C A rs4806162 DMKN Synonymous SNV T230T 0.161 0.146 0.177 50 189 56 0.128 52 13 1 3 2 13.35 31491 chr19 2852816 2852816 C T rs191028717 ZNF555 Synonymous SNV T250T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 18.52 31492 chr8 23152334 23152334 A G rs15946 R3HCC1 Synonymous SNV T383T 0.66 0.708 0.69 258 775 272 0.662 203 258 94 71 86 1.638 31493 chr19 10694720 10694720 G A rs11542916 AP1M2 Synonymous SNV G23G 0.078 0.086 0.068 24 91 33 0.062 20 4 0 2 0 12.29 31494 chr19 36258721 36258721 C T rs73592448 PROSER3 Nonsynonymous SNV A325V 0.078 0.078 0.061 28 91 30 0.072 18 4 0 1 1 9.25 31495 chr8 23167353 23167353 T G rs1063582 LOXL2 Nonsynonymous SNV M570L 0.785 0.794 0.738 323 922 305 0.828 217 360 124 77 135 11.41 31496 chr19 36004171 36004171 C A rs12460932 DMKN Nonsynonymous SNV E69D 0.16 0.148 0.184 49 188 57 0.126 54 13 1 3 1 11.11 31497 chr19 288062 288062 G A rs11542542 PLPP2 Synonymous SNV H54H 0.12 0.086 0.109 43 141 33 0.11 32 7 0 2 4 8.035 31498 chr19 36258842 36258842 G C rs231217 PROSER3 Nonsynonymous SNV K365N 0.084 0.091 0.068 30 99 35 0.077 20 5 0 1 1 7.047 31499 chr1 197070442 197070442 G T rs3762271 ASPM Nonsynonymous SNV L2647I 0.383 0.409 0.395 122 450 157 0.313 116 83 31 25 22 Benign 6.204 31500 chr8 23186007 23186007 T C rs1051146 LOXL2 Synonymous SNV E346E 0.727 0.74 0.697 301 853 284 0.772 205 305 112 72 120 5.18 31501 chr19 1483864 1483864 A G rs963834921 PCSK4 Nonsynonymous SNV W416R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 31502 chr1 197070697 197070697 T C rs41310927 ASPM Nonsynonymous SNV S2562G 0.382 0.409 0.405 122 449 157 0.313 119 82 31 25 22 Benign 25.5 31503 chr8 23190941 23190941 T C rs1010156 LOXL2 Synonymous SNV S313S 0.47 0.531 0.466 217 552 204 0.556 137 112 57 35 64 0.263 31504 chr19 36268771 36268771 C T rs231228 ARHGAP33 Synonymous SNV A50A 0.151 0.159 0.139 60 177 61 0.154 41 14 3 2 3 16.47 31505 chr19 36018272 36018272 C T rs12461911 SBSN Synonymous SNV A304A 0.163 0.164 0.197 58 191 63 0.149 58 19 3 5 6 9.085 31506 chr19 36273308 36273308 G A rs35297478 ARHGAP33 Synonymous SNV L237L 0.085 0.094 0.065 31 100 36 0.079 19 5 0 1 1 2.732 31507 chr8 23291835 23291835 T C rs1142283 ENTPD4 Synonymous SNV P531P 0.214 0.172 0.18 60 251 66 0.154 53 32 5 5 7 8.989 31508 chr1 197070707 197070707 G A rs41308365 ASPM Synonymous SNV I2558I 0.382 0.406 0.405 122 449 156 0.313 119 82 30 25 22 Benign 14.87 31509 chr19 36033460 36033460 C T rs2239945 GAPDHS Synonymous SNV V203V 0.162 0.154 0.201 58 190 59 0.149 59 19 3 5 6 10.5 31510 chr8 23423669 23423669 A G rs2942194 SLC25A37 Nonsynonymous SNV I87V 0.245 0.237 0.241 119 288 91 0.305 71 33 7 10 18 0.645 31511 chr19 1529821 1529821 C T rs143475861 PLK5 Nonsynonymous SNV P189L 0.01 0.01 0.003 0 12 4 0 1 0 0 0 0 8.11 31512 chr19 1487195 1487195 G A rs36123574 PCSK4 Nonsynonymous SNV T267M 0.035 0.029 0.031 2 41 11 0.005 9 0 0 1 0 28.4 31513 chr7 141838362 141838362 C G rs6464465 MGAM2 Nonsynonymous SNV F327L 0.34 0.346 0.327 138 399 133 0.354 96 78 20 15 27 20.1 31514 chr8 23423758 23423758 G A rs10992 SLC25A37 Synonymous SNV P116P 0.616 0.594 0.663 266 723 228 0.682 195 219 63 65 92 12.6 31515 chr1 197073196 197073196 G A rs41299623 ASPM Nonsynonymous SNV R1729W 0.041 0.029 0.041 16 48 11 0.041 12 2 0 0 1 Benign/Likely benign 29.8 31516 chr19 2230233 2230233 C T rs138329274 PLEKHJ1 Nonsynonymous SNV G255R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 6.236 31517 chr19 30021023 30021023 G C rs62104163 VSTM2B Nonsynonymous SNV D199H 0.093 0.086 0.078 26 109 33 0.067 23 4 3 0 0 22 31518 chr19 36278470 36278470 C G rs231235 ARHGAP33 Synonymous SNV A1001A 0.302 0.331 0.282 144 354 127 0.369 83 54 21 12 23 7.061 31519 chr19 19380996 19380996 G T rs2074300 TM6SF2 Synonymous SNV G129G 0.132 0.133 0.116 45 155 51 0.115 34 15 4 3 2 13.17 31520 chr8 23563908 23563908 A G rs61732911 NKX2-6 Synonymous SNV D68D 0.221 0.224 0.136 92 259 86 0.236 40 28 8 3 14 0.922 31521 chr8 24171051 24171051 C T rs6996616 ADAM28 Synonymous SNV H178H 0.095 0.096 0.102 30 112 37 0.077 30 7 2 1 2 10.33 31522 chr19 36322601 36322601 T C rs4806213 NPHS1 Nonsynonymous SNV N1077S 0.107 0.078 0.119 37 126 30 0.095 35 6 0 2 2 Benign 2.097 31523 chr19 31039256 31039256 C T rs111707808 ZNF536 Synonymous SNV N910N 0.02 0.026 0.034 5 23 10 0.013 10 0 0 0 0 7.403 31524 chr8 24211331 24211331 G A rs7814768 ADAM28 Nonsynonymous SNV V765M 0.986 0.99 0.98 385 1157 380 0.987 288 570 188 142 191 0.003 31525 chr19 31039669 31039669 C T rs77238711 ZNF536 Nonsynonymous SNV A1048V 0.02 0.026 0.034 5 23 10 0.013 10 0 0 0 0 Benign 0.023 31526 chr19 36334419 36334419 G A rs437168 NPHS1 Synonymous SNV V763V 0.043 0.036 0.054 16 50 14 0.041 16 1 0 1 1 Benign 12.26 31527 chr8 24339679 24339679 G A rs13255694 ADAM7 Nonsynonymous SNV V244M 0.332 0.331 0.31 155 390 127 0.397 91 63 20 20 32 26.1 31528 chr19 10904480 10904480 C T rs112238216 DNM2 Synonymous SNV G359G 0.03 0.047 0.007 9 35 18 0.023 2 1 0 0 0 Benign 21.1 31529 chr19 1489817 1489817 C T rs12972390 PCSK4 Nonsynonymous SNV R90H 0.038 0.042 0.02 5 45 16 0.013 6 1 1 0 0 16.71 31530 chr1 197872019 197872019 G T rs4539165 C1orf53 Synonymous SNV A80A 0.362 0.378 0.293 115 425 145 0.295 86 76 24 13 12 9.75 31531 chr19 36339063 36339063 G A rs392702 NPHS1 Synonymous SNV P440P 0.027 0.023 0.037 15 32 9 0.038 11 0 0 0 1 Benign 7.289 31532 chr8 24356818 24356818 A C rs13259668 ADAM7 Nonsynonymous SNV N638H 0.341 0.336 0.337 155 400 129 0.397 99 70 20 21 32 0.005 31533 chr19 2290870 2290870 G C rs8111892 LINGO3 Synonymous SNV A302A 0.087 0.112 0.082 40 102 43 0.103 24 8 2 1 2 9.632 31534 chr19 36349736 36349736 G C rs34006827 KIRREL2 Synonymous SNV G114G 0.031 0.023 0.044 17 36 9 0.044 13 1 0 0 1 7.542 31535 chr1 1987993 1987993 T C rs12184 PRKCZ Synonymous SNV D88D 0.417 0.401 0.34 140 490 154 0.359 100 108 31 14 25 0.051 31536 chr19 19746317 19746317 G A rs777140420 GMIP Synonymous SNV S460S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.53 31537 chr8 24359068 24359068 G A rs13277171 ADAM7 Synonymous SNV L729L 0.332 0.323 0.327 155 390 124 0.397 96 67 20 20 32 2.899 31538 chr1 19934900 19934900 G A rs61740466 RPS14P3 0 0 0.32 0 0 0 0 94 0 0 18 0 0.124 31539 chr7 141957504 141957504 A G rs7786497 PRSS58 Synonymous SNV A8A 0.302 0.263 0.344 106 355 101 0.272 101 56 19 19 15 0.037 31540 chr19 23040182 23040182 G T rs58238799 ZNF723 Nonsynonymous SNV Q163H 0.193 0.206 0.085 70 227 79 0.179 25 27 8 10 5 0.033 31541 chr8 24774683 24774683 C A rs196864 NEFM Nonsynonymous SNV P63T 0.922 0.94 0.935 348 1082 361 0.892 275 499 170 128 154 0.002 31542 chr19 36349752 36349752 G A rs404299 KIRREL2 Nonsynonymous SNV A120T 0.042 0.036 0.054 18 49 14 0.046 16 1 0 1 1 20.3 31543 chr19 23328432 23328432 A G rs61744908 ZNF730 Nonsynonymous SNV T196A 0.104 0.107 0.109 25 122 41 0.064 32 6 3 2 0 4.675 31544 chr19 11034039 11034039 T A rs17850995 YIPF2 Synonymous SNV P254P 0.079 0.091 0.061 20 93 35 0.051 18 6 0 1 0 2.363 31545 chr19 36351935 36351935 G T rs35854130 KIRREL2 Synonymous SNV A301A 0.273 0.227 0.276 117 321 87 0.3 81 47 12 12 16 13.72 31546 chr8 24811065 24811065 G - rs11300136 NEFL 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 31547 chr19 36352024 36352024 G A rs35423326 KIRREL2 Nonsynonymous SNV V303M 0.023 0.021 0.037 17 27 8 0.044 11 0 0 0 1 26.7 31548 chr8 24811322 24811322 A G rs76347846 MIR6841 0.114 0.094 0.095 50 134 36 0.128 28 11 0 0 2 Benign/Likely benign 2.778 31549 chr1 200311674 200311674 C A rs2790110 LINC00862 0 0 0.32 0 0 0 0 94 0 0 20 0 5.893 31550 chr8 25159885 25159885 G A rs907157 DOCK5 Synonymous SNV V297V 0.486 0.526 0.456 196 571 202 0.503 134 152 54 36 48 10.74 31551 chr1 200311868 200311868 C G rs2790109 LINC00862 0 0 0.701 0 0 0 0 206 0 0 72 0 0.246 31552 chr1 200311910 200311910 T A rs2225986 LINC00862 0 0 0.293 0 0 0 0 86 0 0 11 0 11.28 31553 chr8 25182969 25182969 C T rs2666172 DOCK5 Synonymous SNV S603S 0.842 0.857 0.786 327 988 329 0.838 231 423 144 89 135 10.03 31554 chr19 36363470 36363470 G A rs230261 APLP1 Synonymous SNV R312R 0.031 0.023 0.044 17 36 9 0.044 13 1 0 0 1 11.91 31555 chr8 25203022 25203022 A G rs2468902 DOCK5 Synonymous SNV T883T 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.284 31556 chr19 11145691 11145691 C T rs28997582 SMARCA4 Synonymous SNV D1318D 0.095 0.081 0.058 36 112 31 0.092 17 3 0 0 1 Benign 11.03 31557 chr19 36370011 36370011 G A rs2227909 APLP1 Synonymous SNV V583V 0.032 0.026 0.048 17 37 10 0.044 14 1 0 0 1 13.02 31558 chr8 25234858 25234858 A G rs2659585 DOCK5 Nonsynonymous SNV K1285R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.1 31559 chr19 36387378 36387378 C G rs73590883 NFKBID Synonymous SNV L122L 0.026 0.023 0.044 17 30 9 0.044 13 0 0 0 1 11.35 31560 chr1 200867492 200867492 C G rs2271018 INAVA Synonymous SNV P73P 0.289 0.292 0.303 89 339 112 0.228 89 56 14 11 10 15.69 31561 chr1 200972729 200972729 C A rs139054178 KIF21B Synonymous SNV L399L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 13.11 31562 chr19 36387881 36387881 A G rs8113704 NFKBID Nonsynonymous SNV V44A 0.049 0.044 0.078 24 57 17 0.062 23 1 0 1 1 0.237 31563 chr8 25323777 25323777 T C rs10108752 CDCA2 Synonymous SNV N143N 0.999 0.992 0.997 389 1173 381 0.997 293 586 189 146 194 0.012 31564 chr1 20097941 20097941 G T rs10917536 TMCO4 Nonsynonymous SNV Q72K 0.305 0.302 0.337 103 358 116 0.264 99 55 16 22 12 0.435 31565 chr8 25364834 25364834 A T rs3829009 CDCA2 Nonsynonymous SNV R869S 0.222 0.211 0.207 85 261 81 0.218 61 30 4 7 6 0.104 31566 chr19 36342212 36342212 C T rs3814995 NPHS1 Nonsynonymous SNV E117K 0.29 0.323 0.221 107 341 124 0.274 65 49 20 9 19 Benign 26.6 31567 chr7 143016928 143016928 C T rs6962852 CLCN1 Synonymous SNV T87T 0.406 0.417 0.391 160 477 160 0.41 115 92 34 22 37 Benign 10.33 31568 chr19 36430368 36430368 C T rs34933126 LRFN3 Nonsynonymous SNV A14V 0.026 0.013 0.037 17 30 5 0.044 11 1 0 1 1 13.89 31569 chr19 2120979 2120979 C T rs200459002 AP3D1 Nonsynonymous SNV A455T 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 29.7 31570 chr8 25364960 25364960 A G rs6990278 CDCA2 Synonymous SNV T911T 0.223 0.208 0.207 87 262 80 0.223 61 30 4 7 6 1.075 31571 chr19 1122201 1122201 G A rs62131221 SBNO2 Synonymous SNV G305G 0.12 0.104 0.136 44 141 40 0.113 40 8 2 4 3 11.54 31572 chr8 26441477 26441477 G A rs11786691 DPYSL2 Synonymous SNV L202L 0.166 0.161 0.177 72 195 62 0.185 52 11 6 6 4 10.02 31573 chr1 201047062 201047062 G A rs4915476 CACNA1S Synonymous SNV L522L 0.242 0.292 0.255 107 284 112 0.274 75 31 16 9 11 Benign 9.259 31574 chr19 2121793 2121793 C A AP3D1 Nonsynonymous SNV Q347H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 31575 chr19 36430465 36430465 A C rs2242590 LRFN3 Synonymous SNV P46P 0.043 0.031 0.058 18 51 12 0.046 17 2 0 2 1 0.003 31576 chr8 26481771 26481771 T C rs327222 DPYSL2 Synonymous SNV S247S 0.982 0.964 0.99 385 1153 370 0.987 291 567 178 144 190 1.888 31577 chr19 33467576 33467576 G A rs7258185 FAAP24 Synonymous SNV T117T 0.203 0.201 0.204 78 238 77 0.2 60 25 7 5 9 11.03 31578 chr1 201047135 201047135 G A rs16847674 CACNA1S Synonymous SNV N497N 0.066 0.096 0.092 22 77 37 0.056 27 2 1 0 1 Benign 10.64 31579 chr8 26510792 26510792 T C rs708621 DPYSL2 Synonymous SNV P607P 0.573 0.557 0.575 230 673 214 0.59 169 191 62 49 66 2.592 31580 chr19 36430798 36430798 A G rs1057265 LRFN3 Synonymous SNV T157T 0.043 0.031 0.058 18 51 12 0.046 17 2 0 2 1 0.002 31581 chr7 143029874 143029874 G A rs41276054 CLCN1 Nonsynonymous SNV A437T 0.012 0.013 0.02 10 14 5 0.026 6 0 0 0 0 Benign/Likely benign 0.002 31582 chr8 26628028 26628028 A G rs1048101 ADRA1A Nonsynonymous SNV C347R 0.515 0.466 0.534 203 605 179 0.521 157 156 42 43 49 12.63 31583 chr8 26636906 26636906 T A rs60593443 ADRA1A Nonsynonymous SNV S309C 0.095 0.109 0.078 38 112 42 0.097 23 8 1 2 2 4.953 31584 chr19 36497373 36497373 A G rs2285423 SYNE4 Synonymous SNV C160C 0.02 0.034 0.017 10 24 13 0.026 5 0 0 0 0 Benign 0.444 31585 chr7 143043240 143043240 C T rs13438232 CLCN1 Nonsynonymous SNV P727L 0.409 0.424 0.459 175 480 163 0.449 135 96 32 31 37 Benign 15.32 31586 chr8 26636925 26636925 T C rs6989854 ADRA1A Synonymous SNV E302E 0.498 0.445 0.52 196 585 171 0.503 153 155 43 43 49 3.42 31587 chr7 143043304 143043304 G A rs78085922 CLCN1 Synonymous SNV L748L 0.012 0.013 0.02 10 14 5 0.026 6 0 0 0 0 Benign/Likely benign 11.84 31588 chr8 27255128 27255128 T C rs1045510 PTK2B Synonymous SNV S9S 0.516 0.505 0.537 208 606 194 0.533 158 158 48 48 55 4.481 31589 chr8 27255146 27255146 G A rs1045511 PTK2B Synonymous SNV T15T 0.516 0.508 0.537 208 606 195 0.533 158 158 48 48 55 12.68 31590 chr7 143077036 143077036 C T rs1135411 LOC100507507 0.06 0.06 0 31 70 23 0.079 0 3 4 0 1 8.739 31591 chr8 27255263 27255263 A G rs1045512 PTK2B Synonymous SNV K54K 0.516 0.508 0.537 208 606 195 0.533 158 158 48 48 55 1.625 31592 chr8 27308585 27308585 A C rs751019 PTK2B Nonsynonymous SNV K796T 0.54 0.576 0.592 220 634 221 0.564 174 164 62 58 61 9.948 31593 chr8 27311703 27311703 T C rs1879184 PTK2B Synonymous SNV T834T 0.905 0.906 0.908 356 1062 348 0.913 267 477 157 124 163 1.867 31594 chr19 36574063 36574063 C T rs45567532 WDR62 Synonymous SNV D490D 0.177 0.169 0.173 77 208 65 0.197 51 16 4 3 8 Benign 13.9 31595 chr19 36583651 36583651 G A rs61494900 WDR62 Synonymous SNV L757L 0.177 0.169 0.173 77 208 65 0.197 51 16 4 3 8 Benign 9.12 31596 chr8 27315876 27315876 A G rs1879182 PTK2B Synonymous SNV A918A 0.905 0.906 0.915 356 1062 348 0.913 269 477 157 124 163 0.007 31597 chr8 27315900 27315900 A G rs1879181 PTK2B Synonymous SNV L926L 0.905 0.906 0.915 356 1062 348 0.913 269 477 157 124 163 5.338 31598 chr8 27324822 27324822 T C rs891398 CHRNA2 Nonsynonymous SNV T125A 0.512 0.526 0.503 204 601 202 0.523 148 164 50 37 57 Benign 0.003 31599 chr19 36594063 36594063 C T rs17851502 WDR62 Synonymous SNV L1156L 0.177 0.169 0.167 77 208 65 0.197 49 16 4 3 8 Benign 11.31 31600 chr19 34706203 34706203 G A rs36006556 LSM14A Nonsynonymous SNV R238Q 0.026 0.026 0.014 5 30 10 0.013 4 0 0 0 0 20.9 31601 chr8 27358505 27358505 A G rs41507953 EPHX2 Nonsynonymous SNV K2R 0.092 0.081 0.078 39 108 31 0.1 23 5 0 1 1 0.002 31602 chr1 201180340 201180340 A G rs139390045 IGFN1 Nonsynonymous SNV R2107G 0.073 0.055 0.088 29 86 21 0.074 26 2 2 2 1 15.1 31603 chr19 36896578 36896578 C T rs150371532 ZFP82 0.039 0.044 0.041 14 46 17 0.036 12 0 0 0 0 0.87 31604 chr19 2717256 2717256 C G rs3745812 DIRAS1 Synonymous SNV G183G 0.117 0.112 0.119 44 137 43 0.113 35 10 2 1 4 6.907 31605 chr19 34884896 34884896 C T rs140676743 GPI Synonymous SNV N301N 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 Benign 7.547 31606 chr7 143208134 143208134 G A rs117188605 OR10AC1 Synonymous SNV C290C 0.214 0.232 0 107 251 89 0.274 0 30 9 0 12 13.09 31607 chr8 27394366 27394366 C T rs13439459 EPHX2 Synonymous SNV S346S 0.078 0.076 0.078 37 91 29 0.095 23 5 0 1 1 12.71 31608 chr19 3525911 3525911 T C rs766676061 FZR1 Nonsynonymous SNV S39P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.78 31609 chr8 27401964 27401964 A C rs1126452 EPHX2 Synonymous SNV P465P 0.209 0.167 0.197 81 245 64 0.208 58 29 4 7 6 0.005 31610 chr7 143208214 143208214 C A rs2966699 OR10AC1 Nonsynonymous SNV V264L 0.434 0.44 0 183 509 169 0.469 0 116 38 0 44 22.1 31611 chr19 36674305 36674305 A G rs4805162 ZNF565 Nonsynonymous SNV I123T 0.546 0.5 0.571 204 641 192 0.523 168 178 39 49 57 12.83 31612 chr8 27462481 27462481 A G rs7982 CLU Synonymous SNV H263H 0.624 0.591 0.643 242 732 227 0.621 189 232 66 59 75 1.889 31613 chr8 27667969 27667969 C G rs2294092 PBK Synonymous SNV A285A 0.54 0.581 0.578 195 634 223 0.5 170 167 72 55 49 16.53 31614 chr8 27737198 27737198 A G rs4732610 SCARA5 Synonymous SNV R413R 0.832 0.828 0.81 323 977 318 0.828 238 408 133 95 133 9.148 31615 chr1 201252866 201252866 C T rs2268147 PKP1 Synonymous SNV Y12Y 0.069 0.065 0.105 35 81 25 0.09 31 2 0 1 0 Benign 15.05 31616 chr8 27779545 27779545 C T rs10103504 SCARA5 Synonymous SNV L153L 0.702 0.737 0.707 265 824 283 0.679 208 291 103 72 92 10.97 31617 chr8 27886903 27886903 C T rs9314357 NUGGC Synonymous SNV T678T 0.434 0.432 0.456 155 510 166 0.397 134 129 34 30 27 14.33 31618 chr8 27903069 27903069 C T rs13279787 NUGGC Nonsynonymous SNV S474N 0.239 0.25 0.235 94 281 96 0.241 69 35 13 11 8 11.14 31619 chr19 3728609 3728609 G A rs2067019 TJP3 Nonsynonymous SNV R19H 0.221 0.195 0.197 81 259 75 0.208 58 38 7 5 6 22.9 31620 chr1 201351421 201351421 T A rs2275866 LAD1 Nonsynonymous SNV T503S 0.037 0.049 0.065 16 43 19 0.041 19 0 1 0 0 11.31 31621 chr19 15272001 15272001 C T rs1044008 NOTCH3 Synonymous SNV A2146A 0.043 0.031 0.071 18 51 12 0.046 21 1 0 0 1 Benign 9.518 31622 chr19 23328733 23328733 C T rs112801464 ZNF730 Nonsynonymous SNV S296F 0.033 0.018 0.031 8 39 7 0.021 9 1 0 1 0 11.7 31623 chr8 27918057 27918057 T C rs7817227 NUGGC Nonsynonymous SNV Q328R 1 1 0.993 388 1174 384 0.995 292 587 192 145 193 0.001 31624 chr19 11529440 11529440 A G rs138562390 RGL3 Synonymous SNV G18G 0.003 0.023 0.01 1 4 9 0.003 3 0 1 0 0 0.957 31625 chr19 37310344 37310344 T C rs3745775 ZNF790 Nonsynonymous SNV Q301R 0.315 0.336 0.235 131 370 129 0.336 69 53 18 17 16 23.7 31626 chr19 11541539 11541539 G C rs61739927 CCDC151 Nonsynonymous SNV L88V 0.003 0.026 0.017 1 4 10 0.003 5 0 1 0 0 Benign 15.92 31627 chr8 27927849 27927849 C G rs6998705 NUGGC Nonsynonymous SNV R23P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.955 31628 chr19 11553281 11553281 T C rs62638749 PRKCSH Synonymous SNV A183A 0.003 0.023 0.017 1 4 9 0.003 5 0 1 0 0 Benign 8.121 31629 chr1 201356002 201356004 CCA - rs398053706 LAD1 V162del 0.043 0.052 0.054 18 50 20 0.046 16 0 1 0 1 31630 chr8 28304769 28304769 C T rs1390963 FBXO16 Nonsynonymous SNV M242I 0.395 0.409 0.395 151 464 157 0.387 116 96 30 23 27 21.2 31631 chr1 201358304 201358304 C A rs3738281 LAD1 Nonsynonymous SNV A56S 0.058 0.078 0.065 22 68 30 0.056 19 2 2 0 1 0.01 31632 chr19 30308385 30308385 T C rs3218045 CCNE1 Synonymous SNV F118F 0.051 0.063 0.058 18 60 24 0.046 17 5 1 0 0 0.266 31633 chr19 11559801 11559801 T C rs139144555 PRKCSH Synonymous SNV L443L 0.003 0.023 0.017 1 4 9 0.003 5 0 1 0 0 Benign 0.01 31634 chr8 28574803 28574803 G A rs240951 EXTL3 Synonymous SNV P409P 0.342 0.268 0.313 100 402 103 0.256 92 64 10 13 13 5.379 31635 chr19 37441111 37441111 C T rs571294 ZNF568 Synonymous SNV H288H 0.518 0.534 0.503 196 608 205 0.503 148 158 50 43 52 13.65 31636 chr19 11559907 11559907 A G rs34351170 PRKCSH Nonsynonymous SNV I450V 0.003 0.023 0.017 1 4 9 0.003 5 0 1 0 0 Benign 9.1 31637 chr8 28928175 28928175 C G rs764060371 KIF13B Nonsynonymous SNV R1776P 0 0 0 0 0 0 0 0 0 0 0 0 23.8 31638 chr19 37314254 37314254 G A rs140609486 ZNF790 Synonymous SNV F54F 0.014 0.018 0.02 4 17 7 0.01 6 0 0 0 0 11.4 31639 chr19 37441462 37441462 T C rs546589 ZNF568 Synonymous SNV T405T 0.515 0.536 0.486 196 605 206 0.503 143 159 51 43 52 0.475 31640 chr1 201952598 201952598 G A rs56768485 RNPEP Nonsynonymous SNV C3Y 0.262 0.266 0.293 117 308 102 0.3 86 35 14 13 15 5.352 31641 chr8 29005093 29005093 A G rs6986672 KIF13B Synonymous SNV L614L 0.88 0.891 0.861 345 1033 342 0.885 253 452 152 110 150 0.855 31642 chr19 37482151 37482151 A G rs1667354 ZNF568 Nonsynonymous SNV D96G 0.472 0.495 0.459 185 554 190 0.474 135 130 42 37 47 16.1 31643 chr19 23543095 23543095 T C rs296093 ZNF91 Nonsynonymous SNV T864A 0.08 0.086 0.061 24 94 33 0.062 18 4 0 3 1 0.048 31644 chr19 3733831 3733831 G A rs34564453 TJP3 Synonymous SNV L266L 0.093 0.086 0.075 32 109 33 0.082 22 8 2 1 1 4.34 31645 chr8 29927300 29927300 C G rs6468093 SARAF Synonymous SNV A14A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.86 31646 chr19 37487632 37487632 G A rs935706 ZNF568 Nonsynonymous SNV A283T 0.465 0.495 0.425 184 546 190 0.472 125 126 42 35 46 18.2 31647 chr1 201973565 201973565 G A rs3820439 RNPEP Nonsynonymous SNV V289I 0.247 0.214 0.255 98 290 82 0.251 75 36 8 10 10 13.87 31648 chr8 29927321 29927321 A G rs6468094 SARAF Synonymous SNV I7I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.103 31649 chr19 37487723 37487723 G A rs935707 ZNF568 Nonsynonymous SNV R313H 0.465 0.495 0.446 184 546 190 0.472 131 126 42 36 46 15.1 31650 chr8 29989564 29989564 A G rs7844812 MBOAT4 Synonymous SNV S401S 0.916 0.891 0.905 345 1075 342 0.885 266 490 151 120 151 0.046 31651 chr19 23545447 23545447 A G rs296091 ZNF91 Nonsynonymous SNV Y80H 0.079 0.086 0.034 24 93 33 0.062 10 4 0 3 1 10.67 31652 chr19 3162909 3162909 C T rs1637656 GNA15 Synonymous SNV L339L 0.195 0.227 0.241 80 229 87 0.205 71 24 15 8 7 13.11 31653 chr8 29996158 29996158 A G rs4733141 MBOAT4 Synonymous SNV A78A 0.981 0.971 0.956 379 1152 373 0.972 281 565 181 136 184 3.528 31654 chr19 37487866 37487866 A T rs1667363 ZNF568 Nonsynonymous SNV S361C 0.465 0.495 0.446 184 546 190 0.472 131 126 42 36 46 6.841 31655 chr19 23557502 23557502 G A rs141062920 ZNF91 Nonsynonymous SNV T32I 0.079 0.086 0.058 24 93 33 0.062 17 4 0 2 1 1.108 31656 chr8 29996256 29996256 T C rs7813902 MBOAT4 Nonsynonymous SNV T46A 0.981 0.971 0.952 379 1152 373 0.972 280 565 181 136 184 10.35 31657 chr19 37487873 37487873 C A rs1667364 ZNF568 Nonsynonymous SNV A363E 0.465 0.495 0.429 184 546 190 0.472 126 126 42 36 46 13.28 31658 chr8 30695226 30695226 C T rs2720593 TEX15 Synonymous SNV T2858T 0.999 0.995 0.997 389 1173 382 0.997 293 586 190 146 194 12.06 31659 chr8 30695386 30695386 G A rs776845913 TEX15 Nonsynonymous SNV S2805F 0 0 0 0 0 0 0 0 0 0 0 0 13.84 31660 chr19 35550878 35550878 C T rs45512696 HPN Synonymous SNV L131L 0.119 0.109 0.109 44 140 42 0.113 32 6 2 4 3 13.17 31661 chr1 202129826 202129826 T C rs4309039 PTPN7 Nonsynonymous SNV Q37R 0.422 0.38 0.463 145 496 146 0.372 136 102 27 31 26 12.52 31662 chr7 144094613 144094613 G T rs1208216 NOBOX Nonsynonymous SNV P599H 0.141 0.117 0.146 47 165 45 0.121 43 10 3 4 3 Likely benign 8.444 31663 chr19 37488055 37488055 T G rs10405238 ZNF568 Nonsynonymous SNV Y424D 0.175 0.185 0.163 63 206 71 0.162 48 16 4 5 4 24.7 31664 chr19 3753769 3753769 C T rs3746120 APBA3 Synonymous SNV A335A 0.371 0.417 0.35 131 435 160 0.336 103 85 32 18 23 13.93 31665 chr8 30702525 30702525 A C rs323344 TEX15 Nonsynonymous SNV L1720V 0.13 0.107 0.105 39 153 41 0.1 31 12 2 4 1 14.16 31666 chr1 202129895 202129895 G A rs3935295 PTPN7 Nonsynonymous SNV T14M 0.241 0.219 0.218 83 283 84 0.213 64 32 8 7 8 0.124 31667 chr19 33167208 33167208 C G rs3826926 RGS9BP Synonymous SNV L13L 0.054 0.057 0.051 19 63 22 0.049 15 2 0 1 1 Benign 6.119 31668 chr19 37488197 37488197 G A rs1345748 ZNF568 Nonsynonymous SNV C471Y 0.466 0.495 0.446 184 547 190 0.472 131 127 42 36 46 11.02 31669 chr19 3753874 3753874 G A rs34868972 APBA3 Synonymous SNV I300I 0.233 0.271 0.224 82 273 104 0.21 66 31 17 6 10 13.61 31670 chr19 33167837 33167837 C T rs35413309 RGS9BP Nonsynonymous SNV A223V 0.02 0.029 0.02 11 23 11 0.028 6 0 0 0 0 Benign 17.65 31671 chr8 30702602 30702602 T C rs323345 TEX15 Nonsynonymous SNV N1694S 0.13 0.107 0.105 39 153 41 0.1 31 12 2 4 1 0.001 31672 chr19 37854440 37854440 C T rs146330869 ZNF875 Synonymous SNV C521C 0.035 0.052 0.031 12 41 20 0.031 9 0 0 0 0 8.931 31673 chr19 35616220 35616220 C T rs148964366 LGI4 Synonymous SNV P497P 0.049 0.055 0.037 22 57 21 0.056 11 0 1 0 0 15.8 31674 chr19 37488299 37488299 A G rs1363752 ZNF568 Nonsynonymous SNV E505G 0.466 0.495 0.446 184 547 190 0.472 131 127 42 36 46 4.622 31675 chr7 144096068 144096068 C T rs2525702 NOBOX Nonsynonymous SNV G482S 0.141 0.117 0.146 47 165 45 0.121 43 10 3 5 3 Benign 16.95 31676 chr19 12461745 12461745 A G rs117398535 ZNF442 Synonymous SNV F149F 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 0.027 31677 chr8 30702785 30702785 T C rs61736163 TEX15 Nonsynonymous SNV N1633S 0.089 0.068 0.075 29 105 26 0.074 22 8 1 2 1 0.004 31678 chr19 37488472 37488472 C G rs1644698 ZNF568 Nonsynonymous SNV P563A 0.465 0.495 0.446 184 546 190 0.472 131 126 42 36 46 0.003 31679 chr8 30703431 30703431 T C rs323346 TEX15 Nonsynonymous SNV I1418V 0.175 0.141 0.139 51 205 54 0.131 41 21 5 5 3 5.056 31680 chr19 37488481 37488481 G C rs1363753 ZNF568 Nonsynonymous SNV G566R 0.468 0.495 0.452 184 550 190 0.472 133 128 42 36 46 4.662 31681 chr7 144107279 144107279 A G rs1208179 NOBOX Synonymous SNV G14G 0.14 0.122 0.139 50 164 47 0.128 41 10 4 4 3 Benign/Likely benign 0.037 31682 chr8 30704725 30704725 C T rs62000451 TEX15 Synonymous SNV Q986Q 0.089 0.068 0.075 29 105 26 0.074 22 8 1 2 1 6.609 31683 chr7 148701168 148701168 C T rs6971353 PDIA4 Synonymous SNV A553A 0.054 0.065 0.054 15 63 25 0.038 16 0 1 1 1 10.5 31684 chr19 37488499 37488499 T C rs1667366 ZNF568 X572R 0.463 0.492 0.446 184 543 189 0.472 131 126 42 36 46 23.5 31685 chr8 30706224 30706224 A G rs323347 TEX15 Nonsynonymous SNV C487R 0.174 0.141 0.143 51 204 54 0.131 42 21 5 5 3 0.001 31686 chr7 148712092 148712092 G A rs2290971 PDIA4 Nonsynonymous SNV T173M 0.003 0.005 0.01 7 4 2 0.018 3 0 0 0 1 24.6 31687 chr19 37619938 37619938 - TGGCTCACAAGTTTACATGTGAATTGTC ZNF420 Stop gain H611_G612delinsHGSQVYMX 0.003 0.008 0 0 3 3 0 0 0 0 0 0 31688 chr19 37642917 37642917 G A rs4806415 ZNF585A Synonymous SNV H628H 0.454 0.471 0.422 180 533 181 0.462 124 121 42 32 44 1.655 31689 chr19 38056763 38056763 C G rs8111790 ZNF571 Nonsynonymous SNV Q189H 0.304 0.281 0.296 111 357 108 0.285 87 53 11 14 12 8.497 31690 chr8 30717452 30717452 A G rs16877429 TEX15 Nonsynonymous SNV I221T 0.089 0.068 0.071 29 105 26 0.074 21 8 1 2 1 2.137 31691 chr19 37642922 37642922 C T rs4805206 ZNF585A Nonsynonymous SNV V627I 0.454 0.471 0.422 180 533 181 0.462 124 121 42 32 44 0.005 31692 chr8 30732539 30732539 T A rs16877457 TEX15 Synonymous SNV V72V 0.089 0.068 0.075 29 105 26 0.074 22 8 1 2 1 15.18 31693 chr19 38077474 38077474 G A rs2306201 ZNF571-AS1 0.302 0.281 0.272 111 355 108 0.285 80 53 11 14 12 14.36 31694 chr8 30924557 30924557 C T rs1800389 WRN Synonymous SNV C171C 0.631 0.648 0.636 255 741 249 0.654 187 238 83 57 77 Benign 5.599 31695 chr19 37879589 37879589 A G rs4452075 ZNF527 Nonsynonymous SNV H213R 0.188 0.188 0.197 68 221 72 0.174 58 24 3 7 6 0.037 31696 chr1 202794787 202794787 T C rs12139944 MGAT4EP 0 0 0.306 0 0 0 0 90 0 0 18 0 3.547 31697 chr8 30973957 30973957 G T rs1800392 WRN Synonymous SNV L787L 0.407 0.419 0.435 175 478 161 0.449 128 95 37 22 36 Benign 4.847 31698 chr19 35657284 35657284 G T rs75807286 FXYD5 Synonymous SNV T181T 0.029 0.013 0.048 10 34 5 0.026 14 0 0 0 0 0.883 31699 chr1 202956340 202956340 T G rs705754 LOC100506747 0 0 0.391 0 0 0 0 115 0 0 22 0 16.17 31700 chr8 31024638 31024638 C T rs1801196 WRN Synonymous SNV S1361S 0.33 0.367 0.33 123 388 141 0.315 97 59 31 17 17 Benign 13.34 31701 chr8 31497672 31497672 G A rs113317778 NRG1 Nonsynonymous SNV G58R 0.069 0.07 0.109 27 81 27 0.069 32 5 0 2 3 23.6 31702 chr19 35718938 35718938 C T rs564117 FAM187B Nonsynonymous SNV V216I 0.23 0.208 0.19 97 270 80 0.249 56 32 6 5 15 0.011 31703 chr1 20304926 20304926 G A rs4744 PLA2G2A Synonymous SNV Y44Y 0.17 0.201 0.15 73 199 77 0.187 44 14 3 5 6 1.414 31704 chr8 33246538 33246538 A G rs16880849 FUT10 Synonymous SNV D385D 0.296 0.284 0.259 102 348 109 0.262 76 56 13 10 15 5.494 31705 chr19 2833943 2833943 G A rs34753687 ZNF554 Nonsynonymous SNV G237E 0.011 0.018 0.014 3 13 7 0.008 4 0 0 0 0 0.012 31706 chr8 33246591 33246591 G C rs17855838 FUT10 Nonsynonymous SNV L368V 0.296 0.284 0.259 102 348 109 0.262 76 56 13 10 15 24.9 31707 chr7 149461694 149461694 C A rs531754070 ZNF467 Synonymous SNV P112P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 1.559 31708 chr19 2834373 2834373 C T rs17605476 ZNF554 Synonymous SNV Y380Y 0.096 0.099 0.109 37 113 38 0.095 32 7 1 4 3 9.834 31709 chr19 2852744 2852744 C T rs35627030 ZNF555 Synonymous SNV T226T 0.124 0.146 0.143 48 146 56 0.123 42 9 4 5 4 14.13 31710 chr19 38229824 38229824 T C rs3095726 ZNF573 Nonsynonymous SNV M435V 0.83 0.807 0.806 311 974 310 0.797 237 403 123 100 122 14.16 31711 chr8 33246685 33246685 G A rs16880852 FUT10 Synonymous SNV Y336Y 0.296 0.284 0.259 102 347 109 0.262 76 55 13 10 15 0.017 31712 chr19 13059147 13059147 A G rs11558955 RAD23A Nonsynonymous SNV T131A 0.044 0.065 0.027 19 52 25 0.049 8 0 2 1 1 0.005 31713 chr19 17393769 17393769 C T rs200388053 ANKLE1 Nonsynonymous SNV R129W 0.003 0 0 3 4 0 0.008 0 0 0 0 0 13.19 31714 chr19 38056879 38056879 G T rs761281720 ZNF571 Nonsynonymous SNV L151M 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.5 31715 chr1 203186093 203186093 G C rs1065761 CHIT1 Nonsynonymous SNV A423G 0.101 0.094 0.095 46 118 36 0.118 28 6 2 1 1 Benign 10.64 31716 chr8 33356074 33356074 A G rs6468171 MAK16 Nonsynonymous SNV Q277R 0.572 0.581 0.595 218 672 223 0.559 175 217 69 49 68 0.001 31717 chr19 38376103 38376103 A G rs73027454 WDR87 Synonymous SNV F2736F 0.28 0.266 0.293 106 329 102 0.272 86 42 17 11 13 Benign 0.157 31718 chr19 13409390 13409390 C T rs16025 CACNA1A Synonymous SNV R1020R 0.193 0.195 0.167 61 227 75 0.156 49 22 6 5 5 Benign 12.76 31719 chr8 33369944 33369944 T C rs2304748 TTI2 Nonsynonymous SNV E63G 0.583 0.602 0.565 236 685 231 0.605 166 207 69 42 69 15.23 31720 chr19 35836530 35836530 G A rs10406069 CD22 Nonsynonymous SNV G568D 0.174 0.174 0.167 74 204 67 0.19 49 19 8 3 7 8.265 31721 chr19 13409472 13409472 T A rs16023 CACNA1A Nonsynonymous SNV E993V 0.193 0.195 0.173 62 227 75 0.159 51 22 6 7 5 Benign 24.3 31722 chr19 38377409 38377409 A T rs7252765 WDR87 Nonsynonymous SNV V2301E 0.929 0.943 0.408 365 1091 362 0.936 120 510 173 59 171 8.225 31723 chr8 33369994 33369994 A G rs3098657 TTI2 Synonymous SNV N46N 0.609 0.635 0.622 242 715 244 0.621 183 224 77 53 75 0.024 31724 chr19 38377564 38377564 T C rs7253969 WDR87 Synonymous SNV K2249K 0.734 0.742 0.735 276 862 285 0.708 216 318 108 84 101 Benign 0.009 31725 chr19 13409696 13409696 C G rs16022 CACNA1A Nonsynonymous SNV E918D 0.181 0.177 0.126 60 213 68 0.154 37 21 4 4 4 Benign 19.21 31726 chr8 33416189 33416189 G A rs3735950 RNF122 Synonymous SNV F42F 0.519 0.529 0.469 203 609 203 0.521 138 156 55 33 50 10.63 31727 chr19 2917689 2917689 C T rs55682587 ZNF57 Nonsynonymous SNV T325M 0.017 0.023 0.034 5 20 9 0.013 10 0 0 1 0 19.33 31728 chr19 38377773 38377773 G A rs34785154 WDR87 Nonsynonymous SNV R2180W 0.174 0.198 0.129 79 204 76 0.203 38 16 6 4 7 Benign 22.9 31729 chr8 33416222 33416222 C T rs3735951 RNF122 Synonymous SNV Q31Q 0.547 0.565 0.531 216 642 217 0.554 156 177 64 41 59 12.03 31730 chr8 33454923 33454923 G A rs16881117 DUSP26 Synonymous SNV T37T 0.049 0.063 0.068 27 57 24 0.069 20 1 0 3 1 14.35 31731 chr8 36767024 36767024 T C rs28608091 KCNU1 Nonsynonymous SNV W768R 0.347 0.346 0.34 159 407 133 0.408 100 71 23 19 34 2.929 31732 chr19 3595923 3595923 G A rs1131882 TBXA2R Synonymous SNV I265I 0.205 0.221 0.122 93 241 85 0.238 36 23 8 6 7 Benign 10.31 31733 chr19 17397479 17397479 G T rs11880549 ANKLE1 Synonymous SNV V583V 0.119 0.12 0.102 36 140 46 0.092 30 6 1 0 1 9.531 31734 chr8 37620076 37620076 A G rs6468438 PLPBP Nonsynonymous SNV M2V 0.761 0.792 0.956 308 893 304 0.79 281 446 152 140 153 7.497 31735 chr19 35979385 35979385 C T rs17638234 KRTDAP Synonymous SNV A43A 0.072 0.039 0.034 23 85 15 0.059 10 1 0 1 1 9.511 31736 chr8 37699195 37699195 C G rs4976898 ADGRA2 Synonymous SNV G1113G 0.593 0.591 0.507 252 696 227 0.646 149 223 74 50 94 8.238 31737 chr1 204006597 204006597 G A rs4951039 LINC00303 0 0 0.898 0 0 0 0 264 0 0 118 0 1.391 31738 chr19 16265241 16265241 C T rs36088948 HSH2D Nonsynonymous SNV S137F 0.054 0.044 0.054 12 63 17 0.031 16 2 1 1 0 9.904 31739 chr1 204010389 204010389 G T rs10437107 LINC00303 0 0 0.871 0 0 0 0 256 0 0 113 0 9.008 31740 chr19 17397496 17397501 TGTGTT - rs778248870 ANKLE1 L591_C592del 0.047 0.063 0.065 13 55 24 0.033 19 0 0 0 0 31741 chr8 37699516 37699516 C T rs7010546 ADGRA2 Synonymous SNV G1220G 0.267 0.232 0.265 125 313 89 0.321 78 35 9 15 21 9.227 31742 chr1 204159922 204159922 T C rs35431622 KISS1 Nonsynonymous SNV Q36R 0.026 0.039 0.037 9 31 15 0.023 11 0 1 0 0 2.026 31743 chr8 37728017 37728017 A G rs7817179 RAB11FIP1 Nonsynonymous SNV M551T 0.67 0.719 0.636 271 786 276 0.695 187 253 103 61 99 7.923 31744 chr1 204172090 204172090 G A rs13334 GOLT1A Synonymous SNV F17F 0.019 0.008 0.031 9 22 3 0.023 9 0 0 0 0 12.91 31745 chr1 204192696 204192696 T C PLEKHA6 Nonsynonymous SNV S1017G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 31746 chr8 37728019 37728019 T G rs7820872 RAB11FIP1 Synonymous SNV A550A 0.67 0.719 0.636 271 786 276 0.695 187 253 103 61 99 9.523 31747 chr19 38652993 38652993 C T rs332864 SIPA1L3 Synonymous SNV S1254S 0.481 0.492 0.483 201 565 189 0.515 142 131 46 36 57 Benign 16.96 31748 chr19 36002419 36002421 CCA - rs72334573 DMKN G271del 0.121 0.122 0.044 36 142 47 0.092 13 10 5 1 3 31749 chr7 149524913 149524913 G A rs12534509 SSPO 0.117 0.104 0.085 47 137 40 0.121 25 7 2 2 4 12.95 31750 chr8 37730368 37730368 G A rs12541651 RAB11FIP1 Nonsynonymous SNV A651V 0.628 0.685 0.622 243 737 263 0.623 183 236 95 53 80 21.2 31751 chr19 38817944 38817944 G A rs73041296 KCNK6 Synonymous SNV A281A 0.022 0.01 0.02 5 26 4 0.013 6 0 0 0 0 11.6 31752 chr7 149543269 149543269 C T rs62621204 ZNF862 Nonsynonymous SNV R56C 0.137 0.115 0.116 44 161 44 0.113 34 9 2 1 2 12.16 31753 chr8 37730456 37730456 G T rs7341564 RAB11FIP1 Nonsynonymous SNV Q622K 0.393 0.391 0.364 143 461 150 0.367 107 91 31 16 25 13.93 31754 chr19 34900227 34900227 C T rs373399336 PDCD2L Synonymous SNV R164R 0.005 0 0 3 6 0 0.008 0 0 0 0 0 10.21 31755 chr19 38875072 38875072 G C rs62123481 GGN Nonsynonymous SNV Q647E 0.015 0.005 0.014 1 18 2 0.003 4 0 0 0 0 Benign 25.1 31756 chr19 313633 313633 G A rs12104349 MIER2 Synonymous SNV N186N 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 6.509 31757 chr8 37823798 37823798 A G rs4994 ADRB3 Nonsynonymous SNV W64R 0.044 0.06 0.058 24 52 23 0.062 17 2 0 1 2 risk factor 1.055 31758 chr19 38904052 38904052 C A rs75203827 RASGRP4 Synonymous SNV P242P 0.087 0.076 0.071 33 102 29 0.085 21 5 0 0 4 18.53 31759 chr1 204242826 204242826 C T rs150934071 PLEKHA6 Synonymous SNV P10P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.84 31760 chr8 37985897 37985897 A G rs2843740 ASH2L Synonymous SNV K279K 0.976 0.969 0.976 377 1146 372 0.967 287 560 180 140 182 8.62 31761 chr19 3148869 3148869 G A rs74675399 LOC100996351 0.069 0.083 0.071 28 81 32 0.072 21 5 3 1 0 7.356 31762 chr7 150034184 150034184 T C rs3735170 LRRC61 Synonymous SNV A78A 0.265 0.299 0.272 106 311 115 0.272 80 35 15 16 9 0.003 31763 chr8 38005835 38005835 T C rs2229620 STAR Synonymous SNV L63L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.018 31764 chr7 150034378 150034378 A G rs3735169 LRRC61 Nonsynonymous SNV N143S 0.265 0.299 0.272 106 311 115 0.272 80 35 15 16 9 0.015 31765 chr19 14042614 14042614 G A rs564006987 PODNL1 Nonsynonymous SNV P561L 0.011 0.021 0 3 13 8 0.008 0 0 0 0 0 9.459 31766 chr8 38385834 38385834 C T rs12541812 C8orf86 Nonsynonymous SNV V108M 0.067 0.063 0.102 27 79 24 0.069 30 2 1 0 0 10.07 31767 chr1 204434438 204434438 G A rs45492196 PIK3C2B Nonsynonymous SNV R315W 0.026 0.044 0.044 9 31 17 0.023 13 2 2 0 0 25.8 31768 chr7 150037660 150037660 A G rs1047207 RARRES2 Synonymous SNV G13G 0.275 0.31 0.276 114 323 119 0.292 81 37 17 16 14 0.66 31769 chr19 35434448 35434448 A G rs62122088 ZNF30 Nonsynonymous SNV K194R 0.107 0.107 0.112 50 126 41 0.128 33 11 2 1 3 0.002 31770 chr8 38677932 38677932 A G rs2013586 TACC1 Synonymous SNV E195E 0.363 0.396 0.367 127 426 152 0.326 108 72 30 17 16 0.096 31771 chr7 150068371 150068371 T C rs3735165 REPIN1 Nonsynonymous SNV L14P 0.347 0.383 0.361 143 407 147 0.367 106 66 25 26 25 0.075 31772 chr19 38959680 38959680 C T rs11083462 RYR1 Synonymous SNV I1152I 0.301 0.328 0.327 132 353 126 0.338 96 63 27 14 25 Benign 20.2 31773 chr8 38684853 38684853 T C rs2037204 TACC1 Synonymous SNV P130P 0.369 0.406 0.381 128 433 156 0.328 112 75 30 19 16 1.123 31774 chr1 204587047 204587047 G A rs11588857 LRRN2 Nonsynonymous SNV P692S 0.215 0.141 0.19 91 252 54 0.233 56 28 3 4 8 16.9 31775 chr19 38991516 38991516 G A rs2228072 RYR1 Synonymous SNV A2500A 0.124 0.102 0.122 46 146 39 0.118 36 8 1 3 2 Benign 13.96 31776 chr7 150068605 150068605 G A rs17173702 REPIN1 Nonsynonymous SNV R92H 0.261 0.315 0.252 109 306 121 0.279 74 29 16 15 11 21.5 31777 chr19 35434582 35434582 G T rs142299823 ZNF30 Nonsynonymous SNV G239W 0.045 0.031 0.031 16 53 12 0.041 9 1 0 0 0 26.1 31778 chr8 38827186 38827186 C - rs398007544 PLEKHA2 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 31779 chr19 38991543 38991543 G A rs2071088 RYR1 Synonymous SNV V2509V 0.124 0.102 0.122 46 146 39 0.118 36 8 1 3 2 Benign 9.064 31780 chr8 38845602 38845602 T G rs62504414 HTRA4 Synonymous SNV P472P 0.098 0.086 0.071 41 115 33 0.105 21 4 1 1 0 2.931 31781 chr7 150068620 150068620 C T rs17173703 REPIN1 Nonsynonymous SNV A97V 0.261 0.315 0.252 108 306 121 0.277 74 29 16 15 11 23.7 31782 chr19 38993547 38993547 C T rs2229142 RYR1 Synonymous SNV H2621H 0.181 0.169 0.207 72 213 65 0.185 61 19 3 5 8 Benign 14.85 31783 chr1 204587569 204587569 G C rs3747631 LRRN2 Nonsynonymous SNV L518V 0.215 0.141 0.19 91 252 54 0.233 56 27 3 4 8 0.132 31784 chr8 39080632 39080632 C G rs7845771 ADAM32 Nonsynonymous SNV T368S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.001 31785 chr19 17644434 17644434 C T rs74387759 NIBAN3 Synonymous SNV A117A 0.007 0.005 0.02 6 8 2 0.015 6 0 0 0 0 10.58 31786 chr19 38994910 38994910 G A rs2229144 RYR1 Synonymous SNV T2659T 0.301 0.292 0.299 116 353 112 0.297 88 52 13 10 17 Benign 14.59 31787 chr19 32973077 32973077 C T rs7253039 DPY19L3 Synonymous SNV Y694Y 0.121 0.13 0.136 49 142 50 0.126 40 9 1 2 1 12.2 31788 chr7 150068933 150068933 T C rs6722 REPIN1 Synonymous SNV A201A 0.348 0.385 0.361 143 408 148 0.367 106 67 25 26 25 0.143 31789 chr1 204588140 204588140 G A rs3747630 LRRN2 Synonymous SNV H327H 0.24 0.161 0.218 104 282 62 0.267 64 33 3 5 11 0.123 31790 chr19 3543640 3543640 C T rs6510758 C19orf71 Nonsynonymous SNV A137V 0.022 0.021 0.003 11 26 8 0.028 1 0 0 0 0 0.043 31791 chr8 39468128 39468128 A T rs73605945 ADAM18 Nonsynonymous SNV Q142L 0.006 0.003 0.014 4 7 1 0.01 4 0 0 0 0 24.7 31792 chr19 38995438 38995438 T C rs2960340 RYR1 Synonymous SNV I2706I 0.301 0.292 0.299 116 353 112 0.297 88 52 13 10 17 Benign 0.42 31793 chr7 150069548 150069548 C G rs187957325 REPIN1 Synonymous SNV A406A 0.014 0.013 0.02 7 16 5 0.018 6 0 0 0 0 12.84 31794 chr19 17650225 17650225 G C rs115590519 NIBAN3 Nonsynonymous SNV G18R 0.007 0.005 0.02 6 8 2 0.015 6 0 0 0 0 24.8 31795 chr19 38995510 38995510 T C rs2915951 RYR1 Synonymous SNV D2730D 0.301 0.289 0.303 116 353 111 0.297 89 52 12 11 17 Benign 0.485 31796 chr19 3544892 3544892 C T rs56203814 MFSD12 Synonymous SNV A436A 0.02 0.018 0.01 11 23 7 0.028 3 0 0 0 0 15.72 31797 chr8 39496029 39496029 T C rs12708194 ADAM18 Synonymous SNV T267T 0.614 0.591 0.612 217 721 227 0.556 180 231 71 56 62 0.013 31798 chr1 204945934 204945934 A G rs6657372 NFASC Synonymous SNV P608P 0.077 0.081 0.133 42 90 31 0.108 39 5 0 2 3 3.923 31799 chr19 38573149 38573149 G C rs10405667 SIPA1L3 Nonsynonymous SNV G315A 0.158 0.177 0.184 59 186 68 0.151 54 13 7 6 8 Benign 0.001 31800 chr19 38995975 38995975 G A rs2915952 RYR1 Synonymous SNV E2779E 0.298 0.289 0.299 115 350 111 0.295 88 52 12 10 17 Benign 11.04 31801 chr8 39537616 39537616 C T rs28454772 ADAM18 Synonymous SNV D540D 0.007 0.003 0.017 4 8 1 0.01 5 0 0 1 0 8.422 31802 chr1 204948659 204948659 A G rs6667532 NFASC Synonymous SNV P727P 0.083 0.083 0.146 44 98 32 0.113 43 5 0 2 3 7.285 31803 chr19 38996990 38996990 T C rs2229146 RYR1 Synonymous SNV S2863S 0.299 0.289 0.303 115 351 111 0.295 89 52 12 11 17 Benign 2.84 31804 chr8 39840234 39840234 A G rs4736794 IDO2 Nonsynonymous SNV I140V 0.138 0.143 0.126 54 162 55 0.138 37 8 4 1 1 23.8 31805 chr19 38610504 38610504 G A rs59185302 SIPA1L3 Synonymous SNV E950E 0.158 0.174 0.18 57 185 67 0.146 53 13 7 6 8 Benign 1.054 31806 chr1 20501582 20501582 G A rs12139100 PLA2G2C Stop gain R33X 0.19 0.208 0.218 86 223 80 0.221 64 21 10 8 13 26.8 31807 chr19 39002725 39002725 A G rs2071089 RYR1 Synonymous SNV P3062P 0.298 0.289 0.296 115 350 111 0.295 87 52 12 10 17 Benign 1.253 31808 chr19 38795250 38795250 G A rs45437199 C19orf33 Nonsynonymous SNV A62T 0.18 0.211 0.173 67 211 81 0.172 51 21 5 2 11 7.477 31809 chr8 39872866 39872866 A C rs2981161 IDO2 Synonymous SNV S336S 1 1 0.983 389 1174 384 0.997 289 587 192 142 194 0.05 31810 chr19 36166877 36166877 G A rs141672780 UPK1A Nonsynonymous SNV E202K 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 13.64 31811 chr19 39010053 39010053 C T rs41274330 RYR1 Synonymous SNV Y3406Y 0.089 0.068 0.078 19 104 26 0.049 23 6 1 2 0 Benign 14.58 31812 chr19 38795547 38795549 GAA - rs139805446 C19orf33 K91del 0.145 0.159 0.156 60 170 61 0.154 46 13 3 1 10 31813 chr19 3547955 3547955 C T rs10414812 MFSD12 Nonsynonymous SNV R234H 0.03 0.023 0.007 13 35 9 0.033 2 1 0 0 0 13.63 31814 chr8 39872935 39872935 T A rs4503083 IDO2 Stop gain Y359X 0.194 0.203 0.18 71 228 78 0.182 53 24 8 4 5 36 31815 chr19 38796130 38796130 C T YIF1B Synonymous SNV L254L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 12.4 31816 chr19 38798086 38798086 T C rs3178327 YIF1B Synonymous SNV V242V 0.25 0.305 0.265 93 294 117 0.238 78 39 12 12 15 3.426 31817 chr19 17688793 17688793 G A rs13346446 COLGALT1 Synonymous SNV A387A 0.008 0.005 0.017 6 9 2 0.015 5 0 0 0 0 9.712 31818 chr8 40011079 40011079 G A rs6474226 TCIM Nonsynonymous SNV V10I 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.013 31819 chr19 38800165 38800165 C T rs3900981 YIF1B Synonymous SNV L44L 0.175 0.195 0.19 68 205 75 0.174 56 20 5 4 11 4.91 31820 chr19 36207510 36207510 G A rs1052491 ZBTB32 Synonymous SNV L108L 0.167 0.177 0.136 41 196 68 0.105 40 19 4 7 0 11.17 31821 chr19 38817486 38817486 T C rs3745951 KCNK6 Synonymous SNV F192F 0.181 0.208 0.173 66 212 80 0.169 51 20 6 2 11 0.008 31822 chr8 40438757 40438757 T C rs17851751 ZMAT4 Nonsynonymous SNV T125A 0.275 0.281 0.293 102 323 108 0.262 86 39 15 11 14 13.42 31823 chr1 205272926 205272926 C T rs1106201 NUAK2 Synonymous SNV L513L 0.25 0.25 0.269 92 293 96 0.236 79 36 11 10 12 3.064 31824 chr19 38817876 38817876 G A rs34989303 KCNK6 Nonsynonymous SNV V259M 0.143 0.159 0.156 60 168 61 0.154 46 12 3 1 10 11.65 31825 chr1 205272983 205272983 C G rs1106202 NUAK2 Synonymous SNV L494L 0.25 0.25 0.262 91 293 96 0.233 77 36 11 10 12 7.973 31826 chr8 41387809 41387809 T C rs34771611 GINS4 Synonymous SNV L30L 0.055 0.039 0.048 19 65 15 0.049 14 3 0 0 0 0.278 31827 chr19 33293607 33293607 C T rs11673502 TDRD12 Nonsynonymous SNV T748M 0.204 0.174 0.19 65 240 67 0.167 56 18 4 2 2 25 31828 chr1 205273076 205273076 G A rs114413074 NUAK2 Synonymous SNV P463P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.31 31829 chr19 39322087 39322087 T G rs9419 ECH1 Nonsynonymous SNV E41A 0.515 0.557 0.49 225 605 214 0.577 144 155 59 31 63 Benign 20.7 31830 chr19 38827960 38827960 T C rs2302182 CATSPERG Nonsynonymous SNV L29P 0.147 0.159 0.16 61 173 61 0.156 47 12 3 2 10 18.72 31831 chr8 41525914 41525914 C T rs750625 ANK1 Synonymous SNV V1755V 0.292 0.297 0.327 149 343 114 0.382 96 51 19 18 31 Benign 9.619 31832 chr19 33309030 33309030 A T rs12151363 TDRD12 Nonsynonymous SNV Q1117L 0.205 0.174 0.197 65 241 67 0.167 58 18 4 2 2 1.068 31833 chr19 39360597 39360597 C T rs113728915 RINL Nonsynonymous SNV R443Q 0.118 0.154 0.16 65 139 59 0.167 47 9 6 5 7 7.306 31834 chr19 38847431 38847431 T C rs2286475 CATSPERG Synonymous SNV T415T 0.226 0.273 0.218 86 265 105 0.221 64 29 11 9 14 0.04 31835 chr8 41585438 41585438 G A rs2304871 ANK1 Synonymous SNV N105N 0.311 0.333 0.33 122 365 128 0.313 97 57 22 14 19 Benign 4.486 31836 chr19 38912764 38912764 A G rs892055 RASGRP4 Nonsynonymous SNV I18T 0.291 0.328 0.323 130 342 126 0.333 95 58 24 16 25 1.098 31837 chr8 41794934 41794934 C T rs13748 KAT6A Synonymous SNV T1064T 0.266 0.266 0.238 85 312 102 0.218 70 33 15 7 5 Benign 15.37 31838 chr8 42044954 42044954 G A rs1058720 PLAT Synonymous SNV D121D 0.508 0.458 0.537 195 596 176 0.5 158 153 41 48 43 4.249 31839 chr1 205811828 205811828 A T rs4951025 PM20D1 Synonymous SNV T293T 0.181 0.172 0.156 70 213 66 0.179 46 25 7 5 1 0.002 31840 chr19 1783027 1783027 T C rs60482625 ATP8B3 X1264W 0.07 0.086 0.092 32 82 33 0.082 27 2 2 1 1 15.06 31841 chr8 43054553 43054553 T C rs1126058 HGSNAT Synonymous SNV Y519Y 0.993 1 0.997 389 1166 384 0.997 293 579 192 146 194 Benign 0.001 31842 chr8 48885436 48885436 T A rs762679 MCM4 Nonsynonymous SNV L650M 0.861 0.839 0.857 338 1011 322 0.867 252 434 131 108 145 Benign 14.2 31843 chr19 1783146 1783146 T G rs16994559 ATP8B3 Nonsynonymous SNV N1225H 0.072 0.086 0.092 32 84 33 0.082 27 2 2 1 1 9.944 31844 chr19 39589189 39589189 C T rs55878600 ACP7 Synonymous SNV P71P 0.289 0.336 0.276 125 339 129 0.321 81 43 18 13 24 10.12 31845 chr8 51571172 51571172 G A rs1911830 SNTG1 Synonymous SNV T329T 0.628 0.638 0.66 262 737 245 0.672 194 249 82 66 88 10.49 31846 chr19 33355069 33355069 A G rs12150890 SLC7A9 Synonymous SNV C137C 0.197 0.167 0.19 64 231 64 0.164 56 18 4 2 3 Benign 0.008 31847 chr8 52258429 52258429 A T rs11774588 PXDNL Nonsynonymous SNV V1327D 0.034 0.047 0.054 15 40 18 0.038 16 0 1 0 0 0.733 31848 chr19 33370070 33370070 A G rs745961 CEP89 X784Q 0.313 0.299 0.316 111 367 115 0.285 93 53 16 15 12 0.539 31849 chr19 38956839 38956839 C T rs2228070 RYR1 Synonymous SNV N993N 0.142 0.174 0.16 86 167 67 0.221 47 16 10 2 12 Benign 17.57 31850 chr8 52321243 52321243 T C rs2977020 PXDNL Nonsynonymous SNV M981V 0.774 0.745 0.765 287 909 286 0.736 225 347 105 83 105 Benign 0.002 31851 chr19 33370084 33370084 T A rs745960 CEP89 Nonsynonymous SNV H779L 0.313 0.299 0.327 111 367 115 0.285 96 53 16 15 12 0.003 31852 chr19 39008003 39008003 G A rs2304151 RYR1 Synonymous SNV L3230L 0.087 0.115 0.075 32 102 44 0.082 22 8 1 2 3 Benign 8.262 31853 chr19 39860299 39860299 C T rs61736260 SAMD4B Synonymous SNV I67I 0.006 0.008 0.01 0 7 3 0 3 0 0 0 0 15.27 31854 chr19 33370161 33370161 A C rs745959 CEP89 Synonymous SNV V753V 0.313 0.299 0.33 113 367 115 0.29 97 53 16 15 14 0.033 31855 chr8 52366200 52366200 G A rs6473599 PXDNL Synonymous SNV H376H 0.905 0.927 0.891 368 1062 356 0.944 262 481 168 117 174 Benign 9.978 31856 chr19 1785185 1785185 C T rs16994563 ATP8B3 Nonsynonymous SNV V1132I 0.069 0.089 0.085 31 81 34 0.079 25 1 2 0 1 0.001 31857 chr19 39110994 39110994 T A EIF3K Nonsynonymous SNV L26Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 29.7 31858 chr19 39888390 39888390 G C rs1057745 MED29 Nonsynonymous SNV R195T 0.093 0.115 0.071 38 109 44 0.097 21 6 0 0 1 4.997 31859 chr8 52746153 52746153 C T rs9298462 PCMTD1 Synonymous SNV V93V 0.646 0.651 0.639 222 758 250 0.569 188 244 81 66 63 12.7 31860 chr19 39898667 39898667 C T rs3746083 ZFP36 Synonymous SNV R103R 0.056 0.034 0.051 22 66 13 0.056 15 2 0 0 1 4.027 31861 chr19 1506618 1506618 C T rs573868331 ADAMTSL5 Nonsynonymous SNV R362Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.3 31862 chr7 150733025 150733025 T A rs2303926 ABCB8 Synonymous SNV R240R 0.286 0.315 0.286 100 336 121 0.256 84 46 19 10 14 4.723 31863 chr8 53537316 53537316 A G rs1129660 RB1CC1 Synonymous SNV L1553L 0.194 0.18 0.207 84 228 69 0.215 61 19 3 7 12 10.65 31864 chr19 39913634 39913634 G A rs10407035 PLEKHG2 Nonsynonymous SNV R588H 0.162 0.151 0.167 60 190 58 0.154 49 18 2 4 7 2.66 31865 chr7 150763616 150763621 GGAGGC - rs150330052 SLC4A2 E193_A194del 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 31866 chr8 53555069 53555069 A G rs2305427 RB1CC1 Synonymous SNV R1393R 0.197 0.182 0.211 83 231 70 0.213 62 19 4 7 11 8.65 31867 chr8 53586706 53586706 A G rs17337252 RB1CC1 Nonsynonymous SNV M234T 0.459 0.435 0.497 190 539 167 0.487 146 116 32 39 49 6.091 31868 chr19 33617508 33617508 G A rs73039451 GPATCH1 Synonymous SNV R878R 0.053 0.063 0.048 16 62 24 0.041 14 3 0 0 0 11.23 31869 chr19 15121745 15121745 C G rs150456275 CCDC105 Synonymous SNV T36T 0.016 0.026 0.017 7 19 10 0.018 5 0 0 0 0 9.015 31870 chr19 1789721 1789721 T C rs56335545 ATP8B3 Synonymous SNV K791K 0.078 0.096 0.092 35 91 37 0.09 27 1 2 0 1 5.845 31871 chr8 53852871 53852871 A T rs33977775 NPBWR1 Nonsynonymous SNV Y135F 0.131 0.164 0.122 46 154 63 0.118 36 15 7 3 6 28 31872 chr7 150864240 150864240 G C rs13241978 GBX1 Synonymous SNV A132A 0.198 0.229 0.187 85 232 88 0.218 55 45 17 3 11 9.89 31873 chr19 17898499 17898499 C T rs148007824 FCHO1 Nonsynonymous SNV R781C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.2 31874 chr7 150878260 150878260 C G rs2253592 ASB10 Synonymous SNV A290A 0.41 0.414 0.361 151 481 159 0.387 106 95 36 17 27 Benign 9.726 31875 chr19 35828734 35828734 C T rs146504496 CD22 Synonymous SNV C93C 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 10.92 31876 chr8 55539057 55539057 G A rs444772 RP1 Nonsynonymous SNV R872H 0.32 0.273 0.35 142 376 105 0.364 103 58 12 20 24 Benign 22.9 31877 chr19 35837096 35837096 C T rs79438722 CD22 Stop gain R751X 0.019 0.016 0.02 8 22 6 0.021 6 0 0 0 0 10.48 31878 chr19 17361116 17361116 G A rs1043963 USHBP1 Nonsynonymous SNV A613V 0.08 0.096 0.065 34 94 37 0.087 19 5 1 0 1 18.51 31879 chr19 36592585 36592585 C T rs77898819 WDR62 Synonymous SNV A997A 0.014 0.021 0.017 7 17 8 0.018 5 0 0 0 1 Benign/Likely benign 13.85 31880 chr8 55541450 55541450 G A rs446227 RP1 Nonsynonymous SNV A1670T 0.294 0.25 0.33 136 345 96 0.349 97 50 10 19 22 Benign 0.923 31881 chr8 55541513 55541513 T C rs414352 RP1 Nonsynonymous SNV S1691P 0.321 0.273 0.354 142 377 105 0.364 104 58 12 20 24 Benign 4.757 31882 chr8 55541617 55541617 A G rs441800 RP1 Synonymous SNV Q1725Q 0.292 0.25 0.33 135 343 96 0.346 97 49 10 19 21 Benign 0.002 31883 chr19 39993560 39993560 T G rs8107127 DLL3 Nonsynonymous SNV F172C 0.329 0.339 0.187 147 386 130 0.377 55 70 30 14 27 Benign 23.1 31884 chr8 56686224 56686224 T C rs1818 TGS1 Nonsynonymous SNV I16T 0.894 0.898 0.901 341 1049 345 0.874 265 466 153 118 146 6.593 31885 chr19 1808275 1808275 G A rs61739534 ATP8B3 Synonymous SNV Y101Y 0.043 0.042 0.031 19 50 16 0.049 9 2 2 1 1 9.676 31886 chr19 39907036 39907036 C T rs2277743 PLEKHG2 Synonymous SNV A117A 0.186 0.19 0.102 61 218 73 0.156 30 20 8 7 5 21.1 31887 chr19 39993591 39993591 C G rs8106337 DLL3 Synonymous SNV A182A 0.323 0.333 0.15 144 379 128 0.369 44 68 30 14 27 Benign 11.3 31888 chr8 57358564 57358564 G - rs3840716 LOC101929415 0.759 0.737 0.748 275 891 283 0.705 220 343 100 79 98 31889 chr19 34868642 34868642 A G rs1801015 GPI Synonymous SNV G135G 0.061 0.068 0.058 35 72 26 0.09 17 2 1 1 3 Benign 9.629 31890 chr19 39908574 39908574 C T rs35466645 PLEKHG2 Synonymous SNV T245T 0.165 0.18 0.075 59 194 69 0.151 22 21 7 4 5 10.78 31891 chr8 59512334 59512334 G A rs2680903 NSMAF Synonymous SNV D507D 0.882 0.909 0.908 343 1036 349 0.879 267 455 158 120 149 13.34 31892 chr7 151133271 151133271 G A rs2075001 CRYGN Synonymous SNV D137D 0.142 0.185 0.133 66 167 71 0.169 39 10 9 1 7 1.252 31893 chr8 59851907 59851907 T C rs61753688 TOX Nonsynonymous SNV N122S 0.045 0.039 0.031 14 53 15 0.036 9 2 1 0 0 24.6 31894 chr8 61178574 61178574 T C rs7464181 CA8 Synonymous SNV E109E 0.422 0.401 0.367 148 496 154 0.379 108 107 31 23 25 Benign 7.769 31895 chr1 208252777 208252777 G C rs17011882 PLXNA2 Nonsynonymous SNV A805G 0.014 0.029 0.02 4 17 11 0.01 6 0 1 0 0 17.53 31896 chr19 40030541 40030541 T G rs3746086 EID2 Nonsynonymous SNV E60A 0.155 0.143 0.092 60 182 55 0.154 27 24 4 2 4 2.001 31897 chr19 15234344 15234344 G A rs34963992 ILVBL Nonsynonymous SNV A60V 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 Likely benign 8.707 31898 chr8 62550924 62550924 - A rs34108497 ASPH 0.106 0.107 0.197 51 125 41 0.131 58 17 3 4 7 31899 chr19 36014435 36014435 T C rs776063788 SBSN Nonsynonymous SNV S584G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.386 31900 chr19 35434648 35434648 T C rs145945527 ZNF30 Nonsynonymous SNV F261L 0.043 0.042 0.054 19 51 16 0.049 16 1 0 1 1 20.2 31901 chr8 63659610 63659610 G A rs1319275 NKAIN3 Synonymous SNV T131T 0.562 0.591 0.588 229 660 227 0.587 173 187 74 56 63 11.39 31902 chr1 208390086 208390086 G C rs1664227 PLXNA2 Synonymous SNV T394T 0.289 0.266 0.241 116 339 102 0.297 71 45 10 9 15 0.969 31903 chr19 40030654 40030654 G C rs76765165 EID2 Synonymous SNV V22V 0.221 0.174 0.167 90 260 67 0.231 49 36 7 5 12 7.465 31904 chr8 66525548 66525548 T C rs11559265 ARMC1 Synonymous SNV Q132Q 0.293 0.294 0.33 105 344 113 0.269 97 49 19 17 12 4.039 31905 chr1 208391254 208391254 C T rs2782948 PLXNA2 Nonsynonymous SNV R5Q 0.286 0.268 0.241 118 336 103 0.303 71 46 10 9 16 13.55 31906 chr19 35530073 35530073 T C rs16969930 SCN1B Synonymous SNV I167I 0.032 0.031 0.048 23 37 12 0.059 14 0 0 1 0 Benign/Likely benign 11.8 31907 chr7 151873853 151873853 C T rs6464211 KMT2C Synonymous SNV Q2895Q 0.151 0.159 0.187 62 177 61 0.159 55 19 3 5 3 0.251 31908 chr8 66620359 66620359 G A rs13274205 MTFR1 Synonymous SNV X349X 0.547 0.505 0.5 205 642 194 0.526 147 186 50 42 54 4.202 31909 chr19 35612159 35612159 C G rs2290649 FXYD3 Nonsynonymous SNV P36R 0.19 0.19 0.19 73 223 73 0.187 56 18 8 5 7 1.093 31910 chr7 151874498 151874498 C T rs10252263 KMT2C Synonymous SNV Q2680Q 0.016 0.021 0.031 9 19 8 0.023 9 0 0 0 0 0.057 31911 chr8 67064654 67064654 A G rs7843605 TRIM55 Nonsynonymous SNV K343R 0.055 0.052 0.037 17 64 20 0.044 11 4 3 0 0 0.014 31912 chr19 36113590 36113590 A G rs61747965 HAUS5 Nonsynonymous SNV Q580R 0.02 0.044 0.031 6 24 17 0.015 9 0 0 0 0 12.07 31913 chr7 154379517 154379517 C T rs35392762 DPP6 Nonsynonymous SNV S262L 0.095 0.107 0.119 34 111 41 0.087 35 2 0 0 1 4.335 31914 chr8 67089425 67089425 T G rs6159 CRH Synonymous SNV G96G 0.095 0.117 0.116 52 111 45 0.133 34 9 5 2 5 Benign 4.773 31915 chr19 37130419 37130419 G A rs61746298 ZNF461 Synonymous SNV N253N 0.052 0.044 0.044 28 61 17 0.072 13 2 0 0 3 9.989 31916 chr1 20976759 20976759 C T rs540038 PINK1-AS 0 0 0.905 0 0 0 0 266 0 0 122 0 0.152 31917 chr7 154379739 154379739 C T rs75213895 DPP6 Nonsynonymous SNV P336L 0.095 0.107 0.119 34 111 41 0.087 35 2 0 0 1 2.144 31918 chr8 67089641 67089641 C T rs560106713 CRH Synonymous SNV A24A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 11.96 31919 chr8 67590460 67590460 C T rs6983214 C8orf44 0.31 0.276 0.33 120 364 106 0.308 97 58 15 18 16 7.924 31920 chr8 67592152 67592152 T C rs1057463 C8orf44 0.247 0.224 0.333 105 290 86 0.269 98 58 15 18 16 23.3 31921 chr1 209807972 209807972 G A rs1130667 LAMB3 Synonymous SNV P128P 0.408 0.406 0.452 157 479 156 0.403 133 100 35 26 37 Benign 10.21 31922 chr8 67789708 67789708 T A rs16933088 MCMDC2 Nonsynonymous SNV M137K 0.008 0.01 0.017 5 9 4 0.013 5 0 0 1 0 27.8 31923 chr7 154667643 154667643 G A rs2230064 DPP6 Synonymous SNV V530V 0.264 0.263 0.252 117 310 101 0.3 74 36 12 10 17 1.375 31924 chr19 35617513 35617513 G C rs77635806 LGI4 Synonymous SNV A320A 0.022 0.029 0.02 11 26 11 0.028 6 1 0 0 2 10.41 31925 chr19 17397479 17397479 - TT rs759291166 ANKLE1 Frameshift insertion C584Ffs*26 0.006 0.016 0.003 7 7 6 0.018 1 0 0 0 0 31926 chr8 68536470 68536470 A G rs10957393 CPA6 Nonsynonymous SNV F45L 0.218 0.198 0.187 73 256 76 0.187 55 27 10 8 7 Benign 20.5 31927 chr7 154735950 154735950 C T rs930436 PAXIP1-AS2 0.202 0.208 0.282 85 237 80 0.218 83 25 8 15 10 2.645 31928 chr19 36157740 36157740 C T rs61741212 UPK1A Nonsynonymous SNV A9V 0.125 0.125 0.112 60 147 48 0.154 33 8 1 1 3 15.97 31929 chr7 154738365 154738365 G A rs200215885 PAXIP1-AS2 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 2.235 31930 chr7 154738409 154738409 T C rs3501 PAXIP1 Nonsynonymous SNV M1013V 0.23 0.242 0.299 102 270 93 0.262 88 35 10 18 13 10.85 31931 chr8 68864728 68864728 G A rs61753697 PREX2 Synonymous SNV K33K 0.25 0.242 0.31 114 294 93 0.292 91 37 8 13 17 15.74 31932 chr19 15364453 15364453 G C rs149982995 BRD4 Nonsynonymous SNV S767C 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 2.747 31933 chr19 17397501 17397501 T G rs1465582 ANKLE1 Nonsynonymous SNV L591V 0.238 0.232 0.197 97 279 89 0.249 58 12 6 4 3 0.114 31934 chr1 209948711 209948711 A C rs17015183 TRAF3IP3 Synonymous SNV G264G 0.131 0.099 0.126 53 154 38 0.136 37 8 1 0 3 0.295 31935 chr8 68968166 68968166 C A rs1434774 PREX2 Synonymous SNV R399R 0.404 0.375 0.49 147 474 144 0.377 144 97 25 38 33 22.4 31936 chr19 18375760 18375760 G C rs137899214 IQCN Nonsynonymous SNV Q864E 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 0.002 31937 chr19 17412021 17412021 G C rs1001048620 ABHD8 Nonsynonymous SNV S135R 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 0.002 31938 chr8 68968171 68968171 G A rs1434775 PREX2 Synonymous SNV K400K 0.404 0.375 0.49 147 474 144 0.377 144 97 25 38 33 14.06 31939 chr7 154760666 154760666 C T rs61752011 PAXIP1 Synonymous SNV P415P 0.198 0.203 0.276 85 233 78 0.218 81 24 7 15 10 10.63 31940 chr8 68993013 68993013 A G rs12682458 PREX2 Synonymous SNV G606G 0.553 0.578 0.483 219 649 222 0.562 142 176 63 38 58 10.94 31941 chr19 18376518 18376518 T A rs61740751 IQCN Nonsynonymous SNV Q611L 0.048 0.055 0.058 25 56 21 0.064 17 2 1 2 0 22.7 31942 chr1 209956542 209956542 C A rs7550857 C1orf74 Nonsynonymous SNV L146F 0.131 0.099 0.122 56 154 38 0.144 36 8 1 0 3 11.5 31943 chr8 68993014 68993014 T C rs12680555 PREX2 Synonymous SNV L607L 0.553 0.578 0.483 219 649 222 0.562 142 176 63 38 58 8.756 31944 chr19 36218478 36218478 C T rs11670414 KMT2B Synonymous SNV G1419G 0.135 0.141 0.122 73 159 54 0.187 36 12 3 3 4 15.57 31945 chr1 209968684 209968684 C A rs2013162 IRF6 Synonymous SNV S58S 0.311 0.292 0.327 131 365 112 0.336 96 55 17 14 24 Benign 19.65 31946 chr8 69009268 69009268 C T rs3812458 PREX2 Synonymous SNV F795F 0.233 0.258 0.221 81 273 99 0.208 65 28 17 9 6 12.84 31947 chr1 210003489 210003489 A G rs6684236 UTP25 Synonymous SNV Q48Q 0.009 0.005 0.014 7 11 2 0.018 4 0 0 0 0 7.14 31948 chr8 69020496 69020496 T C rs4260880 PREX2 Synonymous SNV S956S 0.383 0.404 0.412 136 450 155 0.349 121 84 39 24 16 8.005 31949 chr19 40433042 40433042 G A rs34466648 FCGBP Synonymous SNV A409A 0.077 0.089 0.058 29 90 34 0.074 17 2 0 1 0 1.21 31950 chr8 69020558 69020558 C T rs61753700 PREX2 Nonsynonymous SNV S977L 0.021 0.016 0.031 9 25 6 0.023 9 0 1 0 0 Likely benign 23 31951 chr19 40480501 40480501 C T rs11542840 PSMC4 Synonymous SNV A180A 0.071 0.063 0.014 29 83 24 0.074 4 1 1 1 0 12.58 31952 chr7 155150765 155150765 C T rs7456618 BLACE 0.452 0.427 0.48 183 531 164 0.469 141 110 38 37 51 1.356 31953 chr19 40519905 40519905 G C rs2111543 ZNF546 Nonsynonymous SNV R217T 0.068 0.063 0.014 27 80 24 0.069 4 1 1 1 0 23.9 31954 chr8 69028079 69028084 AGAAAC - rs763094151 PREX2 R1080_N1081del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 31955 chr1 210014249 210014249 C T rs1005417763 UTP25 Nonsynonymous SNV S445L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 31956 chr8 69046409 69046409 G A rs3793379 PREX2 Synonymous SNV K1294K 0.149 0.12 0.071 54 175 46 0.138 21 12 5 0 3 13.96 31957 chr19 17547546 17547546 G A rs117008413 TMEM221 Synonymous SNV A199A 0.046 0.039 0.034 10 54 15 0.026 10 3 0 0 0 13.45 31958 chr8 69143589 69143589 A G rs2280637 PREX2 Synonymous SNV P1599P 0.342 0.305 0.361 139 401 117 0.356 106 60 17 24 17 13.74 31959 chr19 36255796 36255796 G A rs145377298 PROSER3 Synonymous SNV T195T 0.009 0.018 0.02 0 11 7 0 6 0 0 0 0 10.43 31960 chr19 40519935 40519935 C T rs2111544 ZNF546 Nonsynonymous SNV A227V 0.068 0.063 0.014 27 80 24 0.069 4 1 1 1 0 22.8 31961 chr1 21011346 21011346 A G rs12028811 KIF17 Synonymous SNV T729T 0.084 0.07 0.092 23 99 27 0.059 27 3 1 1 1 0.245 31962 chr19 40316888 40316888 G A rs545752876 DYRK1B Nonsynonymous SNV R484C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 31963 chr8 70744812 70744812 G A rs3750266 SLCO5A1 Nonsynonymous SNV L33F 0.397 0.422 0.432 172 466 162 0.441 127 88 31 26 32 0.002 31964 chr7 155251183 155251183 G A rs77846527 EN2 Synonymous SNV P37P 0.061 0.078 0.075 30 72 30 0.077 22 5 1 0 0 2.987 31965 chr19 18701700 18701700 G A rs34613961 REX1BD Nonsynonymous SNV A164T 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 0.083 31966 chr7 155301717 155301717 G C rs73163379 CNPY1 Nonsynonymous SNV L6V 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 24.5 31967 chr8 70964399 70964399 A G rs10089937 PRDM14 Synonymous SNV D543D 0.624 0.576 0.605 253 733 221 0.649 178 223 63 49 78 2.656 31968 chr19 37644370 37644370 T A rs117499166 ZNF585A Nonsynonymous SNV Q144L 0.034 0.026 0.01 21 40 10 0.054 3 0 0 0 2 0.074 31969 chr19 40360928 40360928 G A rs1053686 FCGBP Synonymous SNV R5160R 0.112 0.13 0.122 59 131 50 0.151 36 6 3 5 4 13.53 31970 chr1 21031046 21031046 C T rs2296226 KIF17 Synonymous SNV P339P 0.041 0.047 0.051 10 48 18 0.026 15 1 2 0 0 12.71 31971 chr8 70967607 70967607 T C rs3750225 PRDM14 Synonymous SNV Q472Q 0.625 0.578 0.609 253 734 222 0.649 179 224 64 49 78 4.024 31972 chr19 36302921 36302921 T C rs12462360 PRODH2 Synonymous SNV P256P 0.229 0.271 0.17 87 269 104 0.223 50 33 18 4 13 0.03 31973 chr1 21042094 21042094 G A rs12046928 KIF17 Synonymous SNV Y90Y 0.113 0.122 0.099 56 133 47 0.144 29 7 3 3 3 8.158 31974 chr8 70978690 70978690 C T rs3750227 PRDM14 Synonymous SNV T321T 0.046 0.044 0.054 19 54 17 0.049 16 2 0 1 0 13.66 31975 chr19 36303664 36303664 G C rs3848666 PRODH2 Nonsynonymous SNV P91R 0.154 0.164 0.088 58 181 63 0.149 26 18 3 0 8 0.002 31976 chr19 35790503 35790503 G A rs3746248 MAG Synonymous SNV E129E 0.256 0.268 0.218 121 301 103 0.31 64 40 16 10 15 2.256 31977 chr19 40366374 40366374 G C rs2053089 FCGBP Synonymous SNV P4620P 0.183 0.206 0.17 79 215 79 0.203 50 23 9 6 12 4.94 31978 chr8 70980738 70980738 T C rs3750228 PRDM14 Nonsynonymous SNV K244E 0.129 0.109 0.15 48 151 42 0.123 44 7 4 6 6 19.7 31979 chr19 18980168 18980168 C T rs758878687 GDF1 Synonymous SNV S119S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Likely benign 12.94 31980 chr8 72948588 72948588 C T rs13280644 TRPA1 Synonymous SNV L830L 0.106 0.115 0.122 44 125 44 0.113 36 9 3 2 3 12.74 31981 chr19 36336690 36336690 A C rs115444936 NPHS1 Synonymous SNV T546T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.918 31982 chr1 2113565 2113565 T G rs262688 PRKCZ-AS1 0 0 0.18 0 0 0 0 53 0 0 6 0 4.489 31983 chr8 72965043 72965043 T C rs13271151 MSC-AS1 0.096 0.104 0.099 43 113 40 0.11 29 9 3 2 3 4.788 31984 chr8 73142382 73142382 C T rs12541758 LOC392232 0.417 0.424 0.422 157 490 163 0.403 124 92 33 24 28 8.329 31985 chr19 4101062 4101062 G T rs10250 MAP2K2 Synonymous SNV I220I 0.484 0.503 0.354 184 568 193 0.472 104 143 47 26 42 Benign 13.92 31986 chr8 73982161 73982161 A G rs2291219 SBSPON Nonsynonymous SNV W186R 0.721 0.771 0.765 290 847 296 0.744 225 309 116 85 106 0.068 31987 chr19 40964340 40964340 G A rs45487299 BLVRB Synonymous SNV T64T 0.033 0.047 0.031 16 39 18 0.041 9 1 0 0 1 14.01 31988 chr19 19037176 19037176 G A rs115860110 DDX49 Synonymous SNV E364E 0.011 0.005 0.01 7 13 2 0.018 3 0 0 0 0 10.73 31989 chr8 74527996 74527996 C T rs949493 STAU2 Nonsynonymous SNV V26M 0.924 0.93 0.918 352 1085 357 0.903 270 500 166 124 157 17.97 31990 chr1 2124345 2124345 - TTG rs142041547 FAAP20 N179_K180insN 0.043 0.044 0.031 10 50 17 0.026 9 2 1 0 0 31991 chr19 40978640 40978640 G A rs73931308 SPTBN4 Nonsynonymous SNV A38T 0.168 0.151 0.18 58 197 58 0.149 53 9 7 6 8 12.26 31992 chr1 212515613 212515613 C T rs1774249 PPP2R5A Synonymous SNV F131F 0.337 0.328 0.344 135 396 126 0.346 101 63 20 15 26 17.19 31993 chr19 38230720 38230720 C G rs3752365 ZNF573 Nonsynonymous SNV G136A 0.221 0.214 0.201 99 259 82 0.254 59 34 11 6 12 24.3 31994 chr19 35997077 35997077 G C rs62111739 DMKN Nonsynonymous SNV S289W 0.028 0.026 0.017 5 33 10 0.013 5 0 0 0 0 2.501 31995 chr1 212526288 212526288 C T rs792442 SNORA16B 0 0 0.789 0 0 0 0 232 0 0 90 0 8.882 31996 chr8 74888616 74888616 G C rs8075 TMEM70 Nonsynonymous SNV A34P 0.204 0.221 0.122 89 240 85 0.228 36 27 7 4 12 Benign 17.71 31997 chr7 157931119 157931119 A G rs1130500 PTPRN2 Synonymous SNV A295A 0.313 0.315 0.33 114 367 121 0.292 97 63 19 15 15 0.076 31998 chr19 41009982 41009982 C T rs71358911 SPTBN4 Synonymous SNV A536A 0.049 0.057 0.075 15 58 22 0.038 22 2 0 1 0 15.14 31999 chr8 74893821 74893821 A G rs1053079 TMEM70 Nonsynonymous SNV T250A 0.256 0.255 0.18 105 301 98 0.269 53 40 10 7 15 Benign 0.001 32000 chr7 157931144 157931144 C T rs1130499 PTPRN2 Nonsynonymous SNV S287N 0.313 0.315 0.327 114 367 121 0.292 96 63 19 14 15 13.56 32001 chr19 4102449 4102449 G A rs17851657 MAP2K2 Synonymous SNV D151D 0.259 0.255 0.218 106 304 98 0.272 64 38 14 5 19 Benign 2.572 32002 chr1 21268710 21268710 C T rs1062981 EIF4G3 Nonsynonymous SNV V257I 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 4.574 32003 chr8 74893850 74893850 C G rs1053077 TMEM70 Nonsynonymous SNV D259E 0.255 0.255 0.153 105 299 98 0.269 45 40 10 7 15 Benign 0.002 32004 chr19 41223391 41223391 G C rs201718287 ITPKC Nonsynonymous SNV R117S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.061 32005 chr19 38743591 38743591 G T rs10993 PPP1R14A Synonymous SNV I75I 0.049 0.052 0.044 19 58 20 0.049 13 2 0 0 0 10.75 32006 chr8 74917084 74917084 A G rs6472812 LY96 Nonsynonymous SNV R56G 0.961 0.951 0.942 377 1128 365 0.967 277 542 174 133 182 0.015 32007 chr19 1923150 1923150 C T rs61742039 SCAMP4 Synonymous SNV S115S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 15.22 32008 chr19 41173661 41173661 C T rs372917525 NUMBL Synonymous SNV Q473Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 6.616 32009 chr7 157985149 157985149 C G rs3800855 PTPRN2 Nonsynonymous SNV S102T 0.176 0.227 0.224 74 207 87 0.19 66 22 13 8 3 3.3 32010 chr8 75262798 75262798 G C rs7828201 GDAP1 Synonymous SNV S34S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 15.17 32011 chr19 38795581 38795583 AAG - rs201974576 C19orf33 K102del 0.035 0.052 0.017 8 41 20 0.021 5 1 0 0 0 32012 chr19 1924189 1924189 C T rs75734024 SCAMP4 Nonsynonymous SNV P155L 0.021 0.013 0.017 3 25 5 0.008 5 0 0 0 0 14.35 32013 chr8 75274141 75274141 T G rs11554166 GDAP1 Synonymous SNV S111S 0.295 0.281 0.272 112 346 108 0.287 80 49 15 12 13 Benign 10.99 32014 chr8 77745635 77745635 G A rs2733733 ZFHX4 Synonymous SNV S1129S 0.388 0.409 0.439 175 456 157 0.449 129 100 32 22 35 14.05 32015 chr19 19257383 19257383 G A rs143597015 BORCS8-MEF2B, MEF2B Synonymous SNV F250F 0.013 0.01 0.014 10 15 4 0.026 4 1 0 0 0 2.826 32016 chr19 41306362 41306362 G A rs11547373 RAB4B-EGLN2 0.266 0.271 0.173 101 312 104 0.259 51 66 19 19 14 19.36 32017 chr19 38817363 38817363 C T rs61734615 KCNK6 Synonymous SNV H151H 0.036 0.049 0.017 7 42 19 0.018 5 1 0 0 0 8.884 32018 chr8 77765398 77765398 A G rs16919452 ZFHX4 Nonsynonymous SNV I2081V 0.034 0.029 0.02 9 40 11 0.023 6 1 1 0 0 13.64 32019 chr19 41774242 41774242 A G rs62120961 HNRNPUL1 Nonsynonymous SNV Y48C 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 18.8 32020 chr19 19338942 19338942 G A rs10426537 NCAN Nonsynonymous SNV S838N 0.006 0.013 0 3 7 5 0.008 0 0 0 0 0 17.96 32021 chr8 77768390 77768390 T G rs16939380 ZFHX4 Nonsynonymous SNV V3078G 0.035 0.029 0.037 9 41 11 0.023 11 1 1 0 0 14.54 32022 chr1 213031158 213031158 C T rs1047881 FLVCR1-DT 0 0 0.493 0 0 0 0 145 0 0 35 0 7.299 32023 chr1 213031350 213031350 C T rs2220949 FLVCR1-DT 0 0 0.49 0 0 0 0 144 0 0 35 0 11.44 32024 chr1 213031448 213031448 G C rs2201601 FLVCR1-DT 0 0 0.333 0 0 0 0 98 0 0 22 0 3.596 32025 chr1 213031473 213031473 A C rs2201602 FLVCR1-DT 0 0 0.439 0 0 0 0 129 0 0 34 0 3.223 32026 chr19 19339285 19339285 G A rs10406347 NCAN Synonymous SNV P952P 0.006 0.013 0 3 7 5 0.008 0 0 0 0 0 6.649 32027 chr8 77895865 77895865 A G rs10087163 PEX2 Nonsynonymous SNV C184R 0.991 0.99 0.99 383 1164 380 0.982 291 577 188 144 188 Benign 2.371 32028 chr19 19368999 19368999 T C rs201414204 HAPLN4 Nonsynonymous SNV K279R 0.012 0.01 0.007 4 14 4 0.01 2 0 0 0 0 13.7 32029 chr8 79610710 79610710 A G rs1054283 ZC2HC1A Synonymous SNV L222L 0.633 0.638 0.619 249 743 245 0.638 182 231 78 55 79 8.915 32030 chr19 38852384 38852384 C A rs145616447 CATSPERG Synonymous SNV R619R 0.036 0.049 0.017 7 42 19 0.018 5 1 0 0 0 17.48 32031 chr8 1449560 1449560 G A rs61732784 DLGAP2 Synonymous SNV P45P 0.014 0.023 0.007 7 16 9 0.018 2 1 0 0 0 19.09 32032 chr1 213186531 213186531 G A rs11542154 ANGEL2 Nonsynonymous SNV P97S 0.006 0.018 0.01 1 7 7 0.003 3 0 0 0 0 9.558 32033 chr8 86089787 86089787 C G rs12926 E2F5 Synonymous SNV A44A 0.469 0.422 0.646 216 551 162 0.554 190 242 68 65 94 13.42 32034 chr8 1806229 1806229 A C rs4875950 ARHGEF10 Synonymous SNV P47P 0.293 0.253 0.282 117 344 97 0.3 83 56 14 13 12 Benign 0.079 32035 chr19 38876586 38876586 G T rs112138627 GGN Nonsynonymous SNV P439Q 0.03 0.031 0.014 6 35 12 0.015 4 1 0 0 0 17.98 32036 chr8 86126827 86126827 - AACATT rs112611553 RBIS V49_D50insNV 0.996 0.992 0.983 386 1169 381 0.99 289 583 190 143 192 32037 chr8 1950540 1950540 C T rs745846020 KBTBD11 Synonymous SNV A394A 0.012 0.016 0 6 14 6 0.015 0 0 0 0 0 11.55 32038 chr8 86351997 86351997 G A rs20571 CA3 Nonsynonymous SNV V31I 0.648 0.622 0.68 263 761 239 0.674 200 246 68 71 87 9.594 32039 chr19 38886311 38886311 T G rs113422285 SPRED3 Synonymous SNV G253G 0.032 0.047 0.017 7 38 18 0.018 5 1 0 0 0 6.129 32040 chr19 41889748 41889748 T C rs12602 TMEM91 Synonymous SNV A163A 0.589 0.604 0.585 235 691 232 0.603 172 199 65 49 73 7.964 32041 chr19 38886713 38886713 C T rs112133734 SPRED3 Synonymous SNV R387R 0.035 0.044 0.017 7 41 17 0.018 5 1 0 0 0 19.87 32042 chr8 86389403 86389403 T C rs703 CA2 Synonymous SNV L87L 0.668 0.628 0.68 265 784 241 0.679 200 262 69 71 88 Benign 0.092 32043 chr19 38886758 38886758 G T rs140053480 SPRED3 Synonymous SNV G402G 0.034 0.036 0.017 7 40 14 0.018 5 1 0 0 0 5.418 32044 chr19 41903220 41903220 G A rs10853751 EXOSC5 Nonsynonymous SNV T5M 0.591 0.607 0.582 235 694 233 0.603 171 202 66 47 72 8.764 32045 chr8 87076520 87076520 C A rs6998760 PSKH2 Nonsynonymous SNV A176S 0.325 0.331 0.337 132 381 127 0.338 99 56 27 20 21 0.001 32046 chr19 1622116 1622116 G A rs2240590 TCF3 Synonymous SNV S253S 0.131 0.128 0.129 57 154 49 0.146 38 14 2 5 3 9.545 32047 chr19 38894307 38894307 G A rs150024474 FAM98C Nonsynonymous SNV E108K 0.028 0.042 0.017 7 33 16 0.018 5 1 0 0 0 1.124 32048 chr19 41928652 41928652 C T rs284652 BCKDHA Synonymous SNV F324F 0.595 0.62 0.582 235 699 238 0.603 171 206 67 46 72 Benign 15.75 32049 chr8 87519315 87519315 T G rs6980476 RMDN1 Nonsynonymous SNV K52N 0.238 0.234 0.207 87 279 90 0.223 61 32 7 6 10 18.59 32050 chr19 1627365 1627365 A G rs35354874 TCF3 Nonsynonymous SNV L120P 0.009 0.008 0.007 8 10 3 0.021 2 0 0 0 0 23.8 32051 chr19 18368873 18368873 C T rs141048177 IQCN Nonsynonymous SNV R1074H 0.009 0.018 0.017 3 10 7 0.008 5 0 0 0 0 12.55 32052 chr19 41930396 41930396 A G rs4674 BCKDHA Synonymous SNV L407L 0.596 0.622 0.582 237 700 239 0.608 171 207 67 46 74 Benign 9.233 32053 chr8 87540872 87540872 G A rs10956871 CPNE3 Synonymous SNV L33L 0.24 0.229 0.211 87 282 88 0.223 62 31 7 6 10 11.99 32054 chr19 41932084 41932084 G T rs284660 B3GNT8 Synonymous SNV A200A 0.585 0.607 0.561 232 687 233 0.595 165 199 66 42 70 13.44 32055 chr19 1627409 1627409 C T rs144176765 TCF3 Synonymous SNV R105R 0.01 0.01 0.007 5 12 4 0.013 2 0 0 0 0 Benign 11.48 32056 chr19 18375784 18375784 G A rs148262698 IQCN Nonsynonymous SNV R856C 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 23.1 32057 chr8 87567193 87567193 C T rs2304789 CPNE3 Nonsynonymous SNV T412M 0.338 0.313 0.293 125 397 120 0.321 86 65 15 12 16 23.7 32058 chr19 41932120 41932120 C T rs284661 B3GNT8 Synonymous SNV V188V 0.585 0.604 0.558 232 687 232 0.595 164 198 65 42 70 11.76 32059 chr8 2054171 2054171 C T rs3817705 MYOM2 Synonymous SNV I958I 0.424 0.44 0.401 171 498 169 0.438 118 106 37 24 38 12.68 32060 chr19 19749111 19749111 C T rs138961453 GMIP Nonsynonymous SNV A216T 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 24.1 32061 chr8 87679303 87679303 A C rs6471482 CNGB3 Nonsynonymous SNV C234W 0.854 0.885 0.888 347 1003 340 0.89 261 427 150 118 154 Benign 15.24 32062 chr8 2071174 2071174 T C rs17854780 MYOM2 Nonsynonymous SNV V1168A 0.145 0.141 0.129 44 170 54 0.113 38 13 5 2 1 0.003 32063 chr19 41932612 41932612 C T rs284663 B3GNT8 Synonymous SNV E24E 0.595 0.607 0.582 236 698 233 0.605 171 205 66 46 73 10.55 32064 chr19 362283 362283 C T rs3764656 THEG Nonsynonymous SNV D329N 0.041 0.039 0.034 10 48 15 0.026 10 0 0 0 0 6.78 32065 chr8 92083424 92083424 A G rs11557571 OTUD6B Synonymous SNV Q47Q 0.587 0.617 0.599 220 689 237 0.564 176 210 77 56 65 0.432 32066 chr8 92136728 92136728 C T rs11785003 LRRC69 Nonsynonymous SNV T64I 0.531 0.563 0.541 195 623 216 0.5 159 184 63 50 51 0.049 32067 chr8 2820745 2820745 G C rs667859 CSMD1 Synonymous SNV L3151L 0.328 0.281 0.364 139 385 108 0.356 107 68 17 21 20 1.182 32068 chr8 92364100 92364100 T C rs10109254 SLC26A7 Synonymous SNV L100L 0.303 0.294 0.313 119 356 113 0.305 92 53 16 15 16 2.1 32069 chr19 16593318 16593318 C T rs118131979 CALR3 Synonymous SNV T287T 0.008 0.01 0.01 7 9 4 0.018 3 0 0 0 0 Benign 9.76 32070 chr8 94146656 94146656 G T rs13267247 C8orf87 0.318 0.339 0.371 131 373 130 0.336 109 64 25 20 16 16.08 32071 chr19 2050823 2050823 G T rs3746101 MKNK2 Nonsynonymous SNV Q10K 0.064 0.06 0.075 25 75 23 0.064 22 2 1 1 0 2.715 32072 chr8 94746698 94746698 G T rs3133974 RBM12B Synonymous SNV P647P 0.276 0.26 0.313 115 324 100 0.295 92 43 11 20 10 8.899 32073 chr19 19017825 19017825 G A rs118170439 COPE Synonymous SNV H129H 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 11.08 32074 chr19 37441365 37441365 T C rs547483 ZNF568 Nonsynonymous SNV M373T 0.291 0.307 0.262 121 342 118 0.31 77 53 16 12 16 11.11 32075 chr8 94808165 94808165 A G rs3134031 TMEM67 Nonsynonymous SNV I604V 0.593 0.568 0.639 248 696 218 0.636 188 210 65 58 68 Benign 1.807 32076 chr8 95143186 95143186 C G rs1051623 CDH17 Nonsynonymous SNV E734D 0.775 0.74 0.776 302 910 284 0.774 228 353 108 89 119 2.635 32077 chr1 216258194 216258194 G T rs56110889 USH2A Synonymous SNV G1671G 0.183 0.133 0.163 56 215 51 0.144 48 14 4 2 2 Benign 10.79 32078 chr19 37441980 37441980 A G rs1644634 ZNF568 Nonsynonymous SNV Q578R 0.432 0.435 0.493 159 507 167 0.408 145 158 51 42 48 0.001 32079 chr8 95158259 95158259 G A rs2251734 CDH17 Synonymous SNV F688F 0.329 0.341 0.337 117 386 131 0.3 99 53 23 21 13 13.66 32080 chr8 95161102 95161102 G A rs35792427 CDH17 Synonymous SNV S599S 0.147 0.135 0.156 56 172 52 0.144 46 13 3 3 1 2.391 32081 chr1 216496947 216496947 G A rs1805050 USH2A Synonymous SNV T473T 0.322 0.284 0.265 114 378 109 0.292 78 61 16 14 13 Benign 11.52 32082 chr8 3076959 3076959 T C rs28455997 CSMD1 Nonsynonymous SNV N1497S 0.093 0.089 0.095 48 109 34 0.123 28 6 3 0 2 5.979 32083 chr8 95188850 95188850 T C rs2243518 CDH17 Nonsynonymous SNV K115E 0.82 0.818 0.813 318 963 314 0.815 239 396 130 100 131 10.74 32084 chr19 39592138 39592138 C T rs691273 ACP7 Nonsynonymous SNV P317L 0.2 0.195 0.187 83 235 75 0.213 55 18 6 2 9 3.203 32085 chr19 20807177 20807177 - A rs35575803 ZNF626 Frameshift insertion I503Hfs*95 0.278 0.276 0.303 133 326 106 0.341 89 100 36 43 47 32086 chr19 4212475 4212475 C T ANKRD24 Nonsynonymous SNV P355S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.3 32087 chr19 4217576 4217576 G C rs150106684 ANKRD24 Nonsynonymous SNV E807Q 0.02 0.008 0.037 14 23 3 0.036 11 6 0 1 2 22.7 32088 chr8 3224561 3224561 T C rs4875703 CSMD1 Synonymous SNV T1036T 0.244 0.284 0.269 99 286 109 0.254 79 34 11 10 15 0.034 32089 chr19 20807185 20807185 C T rs10408597 ZNF626 Nonsynonymous SNV E500K 0.278 0.276 0.276 133 326 106 0.341 81 100 36 39 47 0.525 32090 chr8 95419698 95419698 A G rs2291439 RAD54B Synonymous SNV N66N 0.386 0.417 0.398 164 453 160 0.421 117 86 37 19 32 6.066 32091 chr19 42132193 42132193 T C rs3848568 CEACAM4 Nonsynonymous SNV K69R 0.024 0.039 0.014 9 28 15 0.023 4 0 0 0 0 11.97 32092 chr8 3253768 3253768 C T rs3802303 CSMD1 Synonymous SNV L847L 0.442 0.398 0.395 181 519 153 0.464 116 109 33 23 46 3.278 32093 chr19 4217587 4217587 G A rs58333777 ANKRD24 Synonymous SNV A810A 0.154 0.104 0.173 67 181 40 0.172 51 74 12 17 21 11.96 32094 chr8 95531419 95531419 T C rs1866844 VIRMA Synonymous SNV Q769Q 0.309 0.313 0.333 110 363 120 0.282 98 62 20 16 14 0.611 32095 chr8 3265590 3265590 C T rs10088378 CSMD1 Synonymous SNV Q634Q 0.738 0.729 0.684 296 866 280 0.759 201 315 102 67 112 5.34 32096 chr8 95538468 95538468 T C rs2890827 VIRMA Synonymous SNV P668P 0.351 0.346 0.381 124 412 133 0.318 112 80 24 23 18 0.97 32097 chr8 95541302 95541302 A G rs957448 VIRMA Synonymous SNV G292G 0.266 0.281 0.221 119 312 108 0.305 65 48 15 7 17 5.237 32098 chr8 4495047 4495047 T C rs200799805 CSMD1 Nonsynonymous SNV N40S 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 22.5 32099 chr19 20807610 20807610 G C rs201684374 ZNF626 Nonsynonymous SNV T358R 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 0.563 32100 chr8 95541371 95541371 T A rs957446 VIRMA Synonymous SNV R269R 0.614 0.628 0.629 241 721 241 0.618 185 226 74 70 72 3.049 32101 chr8 95547119 95547119 T G rs2304764 VIRMA Synonymous SNV P144P 0.233 0.247 0.235 110 274 95 0.282 69 48 15 8 17 9.699 32102 chr19 20807637 20807637 G T rs200037994 ZNF626 Nonsynonymous SNV A349D 0.008 0 0.003 0 9 0 0 1 0 0 0 0 22.8 32103 chr19 37487975 37487975 G A rs16971886 ZNF568 Nonsynonymous SNV R397H 0.29 0.307 0.286 123 341 118 0.315 84 54 16 14 15 26.3 32104 chr8 95655596 95655596 T C rs72676907 ESRP1 Synonymous SNV D109D 0.168 0.214 0.197 69 197 82 0.177 58 15 8 3 10 7.703 32105 chr19 42312933 42312933 G A rs3752172 CEACAM3 Synonymous SNV A169A 0.186 0.19 0.177 79 218 73 0.203 52 20 9 6 10 8.193 32106 chr19 4218040 4218040 C T rs371361536 ANKRD24 Synonymous SNV S961S 0.016 0.026 0 13 19 10 0.033 0 0 0 0 0 17.04 32107 chr8 95680229 95680229 C T rs1549466 ESRP1 Synonymous SNV V328V 0.417 0.456 0.449 164 489 175 0.421 132 99 39 27 34 15.13 32108 chr19 42341407 42341407 G C rs35476281 LYPD4 Nonsynonymous SNV T149S 0.023 0.026 0.027 8 27 10 0.021 8 0 0 0 0 10.78 32109 chr1 21943820 21943820 G A rs2275360 RAP1GAP Synonymous SNV Y154Y 0.311 0.328 0.286 131 365 126 0.336 84 59 24 11 20 7.928 32110 chr19 20808414 20808414 C T rs8110802 ZNF626 Nonsynonymous SNV S90N 0.02 0.013 0 9 24 5 0.023 0 0 0 0 0 0.245 32111 chr8 95690579 95690579 T C rs12677519 ESRP1 Synonymous SNV N596N 0.689 0.68 0.687 266 809 261 0.682 202 273 89 69 93 8.107 32112 chr19 42192030 42192030 C A rs141024482 CEACAM7 0.009 0.016 0 5 10 6 0.013 0 0 0 0 0 22.2 32113 chr19 36367509 36367509 C G rs35586905 APLP1 Nonsynonymous SNV P479A 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 18.89 32114 chr8 95877787 95877787 T C rs713113 INTS8 Synonymous SNV S710S 0.565 0.594 0.537 235 663 228 0.603 158 185 67 42 68 10.67 32115 chr19 4236996 4236996 G A rs4740 EBI3 Nonsynonymous SNV V201I 0.321 0.276 0.313 112 377 106 0.287 92 53 19 14 14 0.002 32116 chr19 20808418 20808418 G C rs8111015 ZNF626 Nonsynonymous SNV Q89E 0.02 0.013 0 9 24 5 0.023 0 0 0 0 0 0.068 32117 chr8 95888307 95888307 C T rs1129152 INTS8 Synonymous SNV A898A 0.417 0.474 0.327 165 489 182 0.423 96 109 42 24 34 14.16 32118 chr8 6377433 6377433 C T rs1961222 ANGPT2 Synonymous SNV T242T 0.339 0.383 0.384 141 398 147 0.362 113 68 28 18 23 Likely benign 11.17 32119 chr19 4237067 4237067 A G rs4905 EBI3 Synonymous SNV T224T 0.319 0.273 0.313 112 375 105 0.287 92 53 18 14 14 0.012 32120 chr1 220330672 220330672 C T rs11547779 RAB3GAP2 Synonymous SNV L1165L 0.114 0.115 0.095 33 134 44 0.085 28 11 2 1 2 Benign 15.87 32121 chr19 42392894 42392894 C T rs782545280 ARHGEF1 Synonymous SNV A61A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.45 32122 chr8 96047806 96047806 - A rs34960210 NDUFAF6 0.704 0.661 0.551 261 826 254 0.669 162 276 73 18 78 32123 chr8 6378763 6378763 C T rs3020221 ANGPT2 Synonymous SNV Q193Q 0.412 0.448 0.452 150 484 172 0.385 133 101 38 25 28 Likely benign 11.9 32124 chr19 42434050 42434050 G C rs10409822 LOC100505585 0.504 0.487 0 187 592 187 0.479 0 221 67 0 71 0.881 32125 chr1 220331205 220331205 C G rs2289189 RAB3GAP2 Nonsynonymous SNV S1092T 0.111 0.115 0.095 33 130 44 0.085 28 11 2 1 2 Benign 26.8 32126 chr8 97605800 97605800 C T rs1126681 SDC2 Synonymous SNV Y51Y 0.203 0.203 0.252 73 238 78 0.187 74 22 10 7 11 11.71 32127 chr8 6389889 6389889 C A rs6559167 ANGPT2 Synonymous SNV A136A 0.364 0.385 0.276 145 427 148 0.372 81 83 31 19 29 Likely benign 13.35 32128 chr19 39955533 39955533 G A rs2304217 SUPT5H Synonymous SNV E236E 0.136 0.107 0.126 64 160 41 0.164 37 16 2 3 3 9.069 32129 chr19 42626508 42626508 G A POU2F2 Synonymous SNV D39D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.778 32130 chr8 97614661 97614661 T A rs1042381 SDC2 Nonsynonymous SNV S71T 0.21 0.203 0.153 98 247 78 0.251 45 24 8 3 15 19.16 32131 chr19 4251069 4251069 T C rs1045750 YJU2 Synonymous SNV N57N 0.317 0.279 0.323 113 372 107 0.29 95 52 19 14 14 3.376 32132 chr19 4280186 4280186 C T rs10419363 SHD Synonymous SNV F42F 0.365 0.398 0.323 126 429 153 0.323 95 77 31 14 17 15.29 32133 chr19 21131571 21131571 A G rs56321708 ZNF85 Nonsynonymous SNV Q20R 0.123 0.13 0.099 44 144 50 0.113 29 8 1 4 3 0.385 32134 chr8 6478960 6478960 C G rs11137040 MCPH1-AS1 0.271 0.268 0.293 97 318 103 0.249 86 39 21 10 9 Benign 7.564 32135 chr19 4254375 4254375 C T rs11085068 YJU2 Synonymous SNV Y98Y 0.318 0.279 0.313 115 373 107 0.295 92 52 18 13 14 8.802 32136 chr8 97847358 97847358 G T rs1864384 CPQ Synonymous SNV V197V 0.675 0.688 0.673 261 792 264 0.669 198 268 89 67 88 0.003 32137 chr19 36549684 36549684 G A rs61742664 WDR62 Synonymous SNV V60V 0.031 0.029 0.041 22 36 11 0.056 12 1 0 0 1 Benign/Likely benign 14.76 32138 chr8 98289254 98289254 T C rs146046752 TSPYL5 Synonymous SNV V273V 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 0.037 32139 chr19 21131664 21131664 G T rs56231962 ZNF85 Nonsynonymous SNV R51I 0.124 0.13 0.116 46 146 50 0.118 34 8 1 4 3 3.023 32140 chr8 98289986 98289986 C T rs28669903 TSPYL5 Synonymous SNV P29P 0.689 0.659 0.67 253 809 253 0.649 197 278 81 70 83 18.2 32141 chr19 42906024 42906024 G A rs36104839 LIPE Synonymous SNV A1057A 0.046 0.06 0.017 21 54 23 0.054 5 0 1 0 1 11.61 32142 chr19 21131850 21131850 C G rs56393308 ZNF85 Nonsynonymous SNV T113R 0.124 0.13 0.092 45 146 50 0.115 27 8 1 4 3 7.211 32143 chr8 98943446 98943446 T C rs2290470 MATN2 Synonymous SNV T136T 0.346 0.365 0.378 141 406 140 0.362 111 73 27 19 28 0.403 32144 chr19 4292597 4292597 C T rs888932 TMIGD2 Synonymous SNV X163X 0.313 0.294 0.238 118 368 113 0.303 70 68 18 15 25 5.167 32145 chr1 22150118 22150118 C T rs1138469 HSPG2 Nonsynonymous SNV V4333I 0.048 0.047 0.058 18 56 18 0.046 17 0 1 0 0 Benign 0.552 32146 chr8 6479178 6479178 C A rs2912016 MCPH1 Synonymous SNV A713A 0.319 0.339 0.374 119 374 130 0.305 110 54 25 18 15 Benign 10.29 32147 chr8 98954012 98954012 T C rs2513845 MATN2 Synonymous SNV H240H 0.997 0.995 0.993 388 1170 382 0.995 292 583 190 145 193 2.905 32148 chr19 36593915 36593915 T G rs61741470 WDR62 Nonsynonymous SNV M1134R 0.027 0.029 0.037 20 32 11 0.051 11 1 0 0 1 Benign/Likely benign 0.135 32149 chr19 4294623 4294623 C A rs58237134 TMIGD2 Nonsynonymous SNV W48L 0.254 0.253 0.238 130 298 97 0.333 70 45 15 11 23 0.16 32150 chr19 21131870 21131870 G C rs11665978 ZNF85 Nonsynonymous SNV G120R 0.124 0.13 0.088 45 146 50 0.115 26 8 1 4 3 0.001 32151 chr19 3752927 3752927 C T rs117197891 APBA3 Nonsynonymous SNV R358Q 0.011 0.013 0.024 10 13 5 0.026 7 0 0 0 0 13.04 32152 chr8 98991221 98991221 A G rs1869609 MATN2 Nonsynonymous SNV K356E 0.72 0.711 0.65 248 845 273 0.636 191 305 94 65 77 5.477 32153 chr1 221507141 221507141 C T rs7555947 C1orf140 0 0 0.997 0 0 0 0 293 0 0 146 0 5.12 32154 chr19 2039727 2039727 C T rs34475638 MKNK2 Nonsynonymous SNV R428Q 0.025 0.018 0.02 16 29 7 0.041 6 1 0 0 1 23.3 32155 chr8 6690276 6690276 T C rs2741098 XKR5 Nonsynonymous SNV M69V 0.56 0.622 0.588 212 658 239 0.544 173 180 77 53 55 1.561 32156 chr19 36594369 36594369 C T rs45470992 WDR62 Synonymous SNV S1213S 0.027 0.029 0.037 20 32 11 0.051 11 1 0 0 1 Benign/Likely benign 12.04 32157 chr19 4294807 4294807 G A rs78320454 TMIGD2 Nonsynonymous SNV P18L 0.166 0.167 0.184 94 195 64 0.241 54 21 7 7 18 0.191 32158 chr19 21132129 21132129 T C rs11670246 ZNF85 Nonsynonymous SNV F206S 0.124 0.13 0.051 45 146 50 0.115 15 8 1 4 3 0.002 32159 chr1 22163402 22163402 G A rs41310390 HSPG2 Synonymous SNV S3417S 0.048 0.047 0.058 19 56 18 0.049 17 0 1 0 0 Likely benign 16.31 32160 chr8 99006736 99006736 C T rs11559202 MATN2 Synonymous SNV H370H 0.181 0.154 0.173 66 213 59 0.169 51 22 6 5 3 10.74 32161 chr1 22165963 22165963 T C rs139500146 HSPG2 Nonsynonymous SNV I3265V 0.003 0.013 0.014 1 3 5 0.003 4 0 0 0 0 Benign/Likely benign 0.005 32162 chr8 8176221 8176221 C T rs13269488 PRAG1 Nonsynonymous SNV G1222S 0.484 0.495 0.476 170 568 190 0.436 140 136 48 33 36 14.65 32163 chr19 3754020 3754020 G C rs61731066 APBA3 Synonymous SNV S282S 0.052 0.06 0.068 32 61 23 0.082 20 4 2 0 2 1.757 32164 chr19 21132211 21132211 A T rs11665995 ZNF85 Synonymous SNV R233R 0.124 0.13 0.058 45 145 50 0.115 17 8 1 4 3 0.014 32165 chr19 40195169 40195169 A G rs375434620 LGALS14 Star tloss M1? 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.069 32166 chr8 99006748 99006748 C T rs11559201 MATN2 Synonymous SNV H374H 0.181 0.154 0.177 66 213 59 0.169 52 22 6 5 3 12.93 32167 chr19 36637204 36637204 C T rs145643977 CAPNS1 Synonymous SNV D125D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 17.92 32168 chr19 21132394 21132394 C T rs11666887 ZNF85 Synonymous SNV T294T 0.124 0.13 0.088 46 145 50 0.118 26 8 1 4 3 7.183 32169 chr19 375779 375779 A G rs61745664 THEG Synonymous SNV L64L 0.021 0.026 0.024 7 25 10 0.018 7 0 0 0 0 0.048 32170 chr8 8560536 8560536 G A rs12548737 CLDN23 Nonsynonymous SNV V210M 0.118 0.104 0.095 46 138 40 0.118 28 6 3 1 1 23.4 32171 chr8 99030280 99030280 T C rs2248014 MATN2 Synonymous SNV D544D 0.733 0.729 0.694 275 861 280 0.705 204 313 101 75 101 0.013 32172 chr19 21132751 21132751 A T rs56207286 ZNF85 Synonymous SNV T413T 0.124 0.13 0.051 45 146 50 0.115 15 8 1 2 3 0.002 32173 chr19 37642830 37642830 G A rs77646634 ZNF585A Synonymous SNV T657T 0.046 0.047 0.044 24 54 18 0.062 13 0 0 1 3 9.684 32174 chr8 99205612 99205612 C T rs3735887 NIPAL2 0.481 0.513 0.449 165 565 197 0.423 132 133 52 26 33 14.14 32175 chr8 8560602 8560602 C T rs2280560 CLDN23 Nonsynonymous SNV P232S 0.221 0.219 0.214 89 259 84 0.228 63 26 13 7 12 13.03 32176 chr19 4318365 4318365 G A rs3745990 FSD1 Synonymous SNV A274A 0.083 0.102 0.092 17 97 39 0.044 27 7 4 1 0 14.07 32177 chr19 4324564 4324564 C T rs57455784 STAP2 Synonymous SNV V391V 0.119 0.135 0.095 32 140 52 0.082 28 15 6 1 1 0.513 32178 chr8 100133706 100133706 T G rs7460625 VPS13B Stop gain Y413X 0.814 0.789 0.799 311 956 303 0.797 235 389 121 93 129 Benign 3.397 32179 chr19 42865072 42865072 C T rs62648096 MEGF8 Synonymous SNV R1811R 0.024 0.021 0.014 7 28 8 0.018 4 0 0 0 0 Benign 17.07 32180 chr19 37643522 37643522 C T rs61733481 ZNF585A Nonsynonymous SNV A427T 0.047 0.047 0.044 24 55 18 0.062 13 0 0 1 3 5.205 32181 chr8 101153024 101153024 G A rs1460934 FBXO43 Synonymous SNV I486I 0.532 0.51 0.514 207 625 196 0.531 151 168 50 39 61 13.07 32182 chr8 101225559 101225559 C G rs2514681 SPAG1 Synonymous SNV A446A 0.249 0.224 0.316 107 292 86 0.274 93 73 20 12 25 Benign 14.55 32183 chr8 8749729 8749729 G C rs3748141 MFHAS1 Synonymous SNV L280L 0.156 0.169 0.163 61 183 65 0.156 48 19 8 6 4 3.996 32184 chr19 37643777 37643777 C T rs16972020 ZNF585A Nonsynonymous SNV V342I 0.047 0.047 0.044 24 55 18 0.062 13 0 0 1 3 0.009 32185 chr8 101252680 101252680 T C rs6511 SPAG1 Nonsynonymous SNV M777T 0.595 0.578 0.605 232 698 222 0.595 178 205 70 51 70 Benign 0.001 32186 chr19 42893091 42893091 G A rs139046031 CNFN Synonymous SNV N33N 0.043 0.036 0.034 17 50 14 0.044 10 2 0 0 0 12.06 32187 chr8 8750467 8750467 A G rs1062988 MFHAS1 Synonymous SNV L34L 0.155 0.174 0.15 62 182 67 0.159 44 19 8 6 4 4.184 32188 chr19 37644051 37644051 T C rs57916401 ZNF585A Synonymous SNV A250A 0.288 0.305 0.269 123 338 117 0.315 79 53 18 11 15 0.004 32189 chr8 101253184 101253184 G A rs1788190 SPAG1 Synonymous SNV S905S 0.354 0.331 0.371 134 416 127 0.344 109 72 24 21 25 Benign 8.081 32190 chr19 37309486 37309486 T C rs202186383 ZNF790 Nonsynonymous SNV N587S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 16.88 32191 chr8 8869199 8869199 T G rs9650616 ERI1 Synonymous SNV P67P 0.405 0.44 0.367 155 475 169 0.397 108 109 36 21 29 11.69 32192 chr8 101586133 101586133 T C rs2022923 SNX31 Nonsynonymous SNV D329G 0.42 0.435 0.35 162 493 167 0.415 103 107 37 15 34 1.031 32193 chr19 21477403 21477403 T G rs1781872 ZNF708 Nonsynonymous SNV K58T 0.149 0.148 0.173 66 175 57 0.169 51 12 2 5 6 3.739 32194 chr19 44001345 44001345 C T rs7257767 PHLDB3 Synonymous SNV E250E 0.106 0.112 0.143 50 124 43 0.128 42 8 3 1 1 14.61 32195 chr19 37676528 37676528 G A rs8111369 ZNF585B Synonymous SNV A637A 0.284 0.313 0.265 125 334 120 0.321 78 55 19 11 17 12.58 32196 chr8 101608919 101608919 T C rs2248609 SNX31 Nonsynonymous SNV Q210R 0.342 0.32 0.313 147 402 123 0.377 92 73 22 18 26 1.73 32197 chr19 37677748 37677748 T A rs45626541 ZNF585B Nonsynonymous SNV I231L 0.285 0.313 0.259 126 335 120 0.323 76 55 19 11 17 10.15 32198 chr8 101718932 101718932 C G rs62513920 PABPC1 Nonsynonymous SNV V517L 0.192 0.216 0 63 225 83 0.162 0 0 0 0 0 23.1 32199 chr19 37854351 37854351 C A rs147968672 ZNF875 Nonsynonymous SNV P492T 0.009 0.005 0 0 10 2 0 0 0 0 0 0 28.5 32200 chr8 10383138 10383138 G A rs35102108 PRSS55 Nonsynonymous SNV G15R 0.208 0.161 0.17 73 244 62 0.187 50 26 4 3 8 21.5 32201 chr8 101718965 101718965 G A rs62513921 PABPC1 Nonsynonymous SNV R506C 0.282 0.333 0 95 331 128 0.244 0 0 0 0 0 23.7 32202 chr19 44056412 44056412 C T rs25489 XRCC1 Nonsynonymous SNV R280H 0.055 0.083 0.034 26 65 32 0.067 10 2 0 0 0 12.45 32203 chr8 101718968 101718968 C T rs62513922 PABPC1 Nonsynonymous SNV V505I 0.281 0.326 0 94 330 125 0.241 0 0 0 0 0 22.9 32204 chr19 37958825 37958825 G C ZNF570 Synonymous SNV S11S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.909 32205 chr19 37487873 37487873 C T rs1667364 ZNF568 Nonsynonymous SNV A363V 0.039 0.029 0.014 6 46 11 0.015 4 2 0 0 0 22.6 32206 chr8 101721812 101721812 G A rs200409148 PABPC1 Nonsynonymous SNV R374C 0.404 0.466 0.408 160 474 179 0.41 120 0 0 0 0 35 32207 chr8 10390452 10390452 C T rs4406360 PRSS55 Nonsynonymous SNV A212V 0.331 0.346 0.395 138 389 133 0.354 116 66 20 29 26 0.258 32208 chr19 21606719 21606719 C G rs10414834 ZNF493 Nonsynonymous SNV L292V 0.141 0.143 0.143 65 165 55 0.167 42 12 1 5 6 22.1 32209 chr19 44047825 44047825 T G rs2307177 XRCC1 Nonsynonymous SNV N576T 0.028 0.021 0.044 14 33 8 0.036 13 1 0 0 2 24.1 32210 chr19 3750149 3750149 - CCCCCAGGGACAGTGGCC rs777251677 TJP3 W880_R881insPPQGQW 0 0.003 0 0 0 1 0 0 0 0 0 0 32211 chr8 101721817 101721817 T C rs201076736 PABPC1 Nonsynonymous SNV E372G 0.405 0.471 0.408 162 475 181 0.415 120 0 0 0 0 29.5 32212 chr8 10396054 10396054 A C rs6601483 PRSS55 Synonymous SNV I270I 0.605 0.599 0.578 226 710 230 0.579 170 212 67 54 69 0.351 32213 chr19 40947751 40947751 G A rs35314597 SERTAD3 Synonymous SNV P79P 0.164 0.146 0.126 82 193 56 0.21 37 20 7 3 12 6.04 32214 chr19 44156472 44156472 T C rs2302524 PLAUR Nonsynonymous SNV K175R 0.171 0.154 0.153 72 201 59 0.185 45 23 3 1 6 20.1 32215 chr19 2210467 2210467 G A rs368769341 DOT1L Synonymous SNV K358K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.292 32216 chr8 101721839 101721839 C A rs202074479 PABPC1 Nonsynonymous SNV V365L 0.3 0.367 0.344 102 352 141 0.262 101 0 0 0 0 32 32217 chr19 2210695 2210695 A C rs201485217 DOT1L Nonsynonymous SNV K398Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 32218 chr8 10464796 10464796 G C rs183232880 RP1L1 Nonsynonymous SNV P2271R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 0.02 32219 chr8 101721870 101721870 G A rs146609644 PABPC1 Synonymous SNV N354N 0.267 0.336 0.31 79 313 129 0.203 91 0 0 0 0 10.06 32220 chr8 101721899 101721899 C A rs142985461 PABPC1 Stop gain E345X 0.066 0.081 0.204 26 77 31 0.067 60 0 0 0 0 40 32221 chr8 10465190 10465190 C T rs72494282 RP1L1 Nonsynonymous SNV E2140K 0.178 0.161 0.16 54 209 62 0.138 47 24 4 5 5 Benign 10.84 32222 chr8 103572992 103572992 C G rs3018444 ODF1 Synonymous SNV P211P 0.944 0.951 0.905 369 1108 365 0.946 266 524 173 121 174 0.824 32223 chr19 3778258 3778258 G A rs148529868 MATK Nonsynonymous SNV R442C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 32224 chr8 103573011 103573037 TGCAACCCCTGCAGCCCCTGCAACCCG - rs568456031 ODF1 N219_C227del 0.255 0.242 0.139 90 299 93 0.231 41 34 11 5 12 32225 chr8 10465344 10465344 C A rs11778341 RP1L1 Nonsynonymous SNV Q2088H 0.177 0.151 0.105 53 208 58 0.136 31 25 4 4 5 Benign 8.043 32226 chr8 103851052 103851052 T C rs1062048 AZIN1 Synonymous SNV A123A 0.231 0.255 0.214 82 271 98 0.21 63 33 13 6 8 9.32 32227 chr19 44223125 44223125 C T rs346049 IRGC Synonymous SNV L139L 0.124 0.128 0.133 42 146 49 0.108 39 8 0 2 3 11.32 32228 chr19 44223145 44223145 C T rs34439296 IRGC Synonymous SNV C145C 0.117 0.122 0.129 41 137 47 0.105 38 5 0 2 3 9.623 32229 chr8 104153137 104153137 C T rs3736043 BAALC Synonymous SNV G4G 0.072 0.065 0.058 19 84 25 0.049 17 0 0 1 1 22.8 32230 chr19 44351694 44351694 C T rs2195980 ZNF283 Nonsynonymous SNV T175I 0.856 0.888 0.881 349 1005 341 0.895 259 433 151 116 155 22.9 32231 chr8 10465399 10465399 T A rs11782670 RP1L1 Nonsynonymous SNV E2070V 0.177 0.151 0.071 53 208 58 0.136 21 25 4 4 5 Benign 13 32232 chr19 21239724 21239724 C T rs7256437 ZNF430 Nonsynonymous SNV P203S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.014 32233 chr8 104312341 104312341 A G rs3736047 FZD6 Synonymous SNV E2E 0.41 0.445 0.432 170 481 171 0.436 127 101 35 29 40 4.837 32234 chr19 44223412 44223412 C T rs34471331 IRGC Synonymous SNV H234H 0.117 0.122 0.129 41 137 47 0.105 38 5 0 2 3 11.51 32235 chr19 44352639 44352639 G A rs1061768 ZNF283 Nonsynonymous SNV R490H 0.204 0.182 0.173 61 240 70 0.156 51 25 7 4 5 23.6 32236 chr8 104337096 104337096 A G rs3808554 FZD6 Synonymous SNV L254L 0.41 0.445 0.435 172 481 171 0.441 128 101 35 29 42 0.276 32237 chr8 104337367 104337367 A C rs3808553 FZD6 Nonsynonymous SNV M40L 0.41 0.445 0.439 169 481 171 0.433 129 101 35 29 40 9.414 32238 chr19 38160760 38160760 G A rs79684824 ZNF781 Nonsynonymous SNV T97M 0.071 0.057 0.058 22 83 22 0.056 17 5 3 0 1 21.3 32239 chr8 10467160 10467160 G A rs62490855 RP1L1 Nonsynonymous SNV A1483V 0.148 0.174 0.221 60 174 67 0.154 65 9 7 7 9 Benign 9.604 32240 chr19 44351107 44351107 G A rs10421861 ZNF283 Synonymous SNV T118T 0.115 0.182 0.231 64 135 70 0.164 68 55 29 18 25 10.35 32241 chr8 104343686 104343686 G A rs1053917 FZD6 Synonymous SNV P385P 0.407 0.443 0.432 169 478 170 0.433 127 101 34 29 40 7.294 32242 chr8 104394744 104394744 T C rs3098233 CTHRC1 Synonymous SNV G202G 0.799 0.82 0.816 315 938 315 0.808 240 371 131 98 125 0.1 32243 chr8 105105846 105105846 C T rs55788818 RIMS2 Nonsynonymous SNV R998C 0.181 0.211 0.19 82 212 81 0.21 56 14 7 7 12 15.82 32244 chr1 224415616 224415616 C T rs3767731 LOC101927164 0 0 0.388 0 0 0 0 114 0 0 19 0 5.121 32245 chr19 38189936 38189936 T G rs372126395 ZNF607 Nonsynonymous SNV K365Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 5.738 32246 chr19 41622107 41622107 - C rs3833221 CYP2F1 Frameshift insertion T6Hfs*22 0.113 0.107 0.19 63 133 41 0.162 56 5 3 6 0 32247 chr8 105478933 105478933 G A rs2298840 DPYS Synonymous SNV F72F 0.189 0.177 0.16 58 222 68 0.149 47 22 4 3 2 Benign 13.5 32248 chr19 41622189 41622189 G A rs305968 CYP2F1 Synonymous SNV P32P 0.196 0.206 0.255 88 230 79 0.226 75 23 8 11 6 8.516 32249 chr19 38202515 38202515 G A rs12461753 ZNF607 Nonsynonymous SNV S2F 0.258 0.273 0.259 90 303 105 0.231 76 41 14 11 9 18.17 32250 chr8 10467604 10467604 C A rs74366179 RP1L1 Nonsynonymous SNV G1335V 0.161 0.19 0.197 63 189 73 0.162 58 12 8 6 10 Benign 21.5 32251 chr8 106813518 106813518 C G rs11993776 ZFPM2 Nonsynonymous SNV A350G 0.06 0.07 0.085 25 71 27 0.064 25 4 0 1 0 Benign 0.121 32252 chr8 10467627 10467627 T C rs112656102 RP1L1 Synonymous SNV T1327T 0.163 0.148 0.092 44 191 57 0.113 27 19 5 5 3 Benign 0.271 32253 chr19 38573068 38573068 C T rs150674546 SIPA1L3 Nonsynonymous SNV A288V 0.04 0.031 0.027 11 47 12 0.028 8 1 0 2 0 0.003 32254 chr8 106813672 106813672 A G rs920628 ZFPM2 Synonymous SNV P401P 0.011 0.018 0.044 2 13 7 0.005 13 1 0 1 0 Benign 0.047 32255 chr8 10467629 10467629 - TTC rs146656804 RP1L1 K1326_T1327insE 0.155 0.146 0.092 45 182 56 0.115 27 19 5 5 4 32256 chr8 106814086 106814086 T C rs16873732 ZFPM2 Synonymous SNV P539P 0.011 0.018 0.037 2 13 7 0.005 11 1 0 1 0 Benign 0.057 32257 chr8 106814695 106814695 C G rs35998713 ZFPM2 Synonymous SNV V742V 0.012 0.018 0.037 2 14 7 0.005 11 1 0 1 0 Benign 7.845 32258 chr8 106815286 106815286 T C rs1442320 ZFPM2 Synonymous SNV Y939Y 0.012 0.018 0.037 2 14 7 0.005 11 1 0 1 0 Benign 0.001 32259 chr19 41809995 41809995 A G rs1056854 HNRNPUL1 Synonymous SNV P608P 0.161 0.216 0.18 52 189 83 0.133 53 13 8 4 6 11.06 32260 chr19 38375666 38375666 C T rs73027451 WDR87 Nonsynonymous SNV R2882Q 0.25 0.25 0.262 84 293 96 0.215 77 39 11 11 8 Benign 21.3 32261 chr8 106815517 106815517 C T rs11995760 ZFPM2 Synonymous SNV H1016H 0.011 0.018 0.044 2 13 7 0.005 13 1 0 1 0 Benign 3.187 32262 chr8 10470470 10470470 C T rs184332984 RP1L1 Nonsynonymous SNV G380R 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 32263 chr19 23545516 23545516 G C rs112713994 ZNF91 Nonsynonymous SNV H57D 0.078 0.083 0.014 38 91 32 0.097 4 6 3 0 4 4.295 32264 chr8 107754473 107754473 G A rs1681904 OXR1 Synonymous SNV E123E 0.42 0.424 0.432 171 493 163 0.438 127 112 29 25 36 10.69 32265 chr8 10474042 10474042 T G rs4388421 RP1L1 Nonsynonymous SNV H222P 0.199 0.182 0.19 56 234 70 0.144 56 27 5 6 7 Benign 19.16 32266 chr8 108970367 108970367 A G rs601558 RSPO2 Nonsynonymous SNV L122P 0.656 0.617 0.653 244 770 237 0.626 192 246 71 59 76 19.76 32267 chr8 110302047 110302047 T G rs2980619 NUDCD1 Nonsynonymous SNV L223F 0.459 0.445 0.524 174 539 171 0.446 154 127 43 40 36 0.071 32268 chr19 38377392 38377409 CCTCCTCCTCCTCCCTTA - rs763153590 WDR87 V2301_E2306del 0.07 0.057 0.003 24 82 22 0.062 1 5 3 0 1 32269 chr19 2275817 2275817 G A rs145140408 PEAK3 Synonymous SNV R428R 0.013 0.01 0.003 6 15 4 0.015 1 0 0 0 0 5.968 32270 chr8 10583506 10583506 A G rs4841432 SOX7 Synonymous SNV L303L 0.366 0.388 0.347 124 430 149 0.318 102 85 32 20 16 0.445 32271 chr8 110376861 110376861 G A rs7008687 PKHD1L1 Synonymous SNV G53G 0.191 0.188 0.16 62 224 72 0.159 47 21 9 8 4 0.622 32272 chr8 10689212 10689212 C T rs12375394 PINX1 Synonymous SNV L88L 0.17 0.188 0.177 58 200 72 0.149 52 24 4 4 7 15.45 32273 chr8 110412519 110412519 G A rs1379369 PKHD1L1 Synonymous SNV K409K 0.451 0.487 0.493 167 530 187 0.428 145 127 48 39 36 10.72 32274 chr8 110416813 110416813 C T rs1457286 PKHD1L1 Synonymous SNV Y468Y 0.45 0.487 0.486 165 528 187 0.423 143 127 48 39 35 0.128 32275 chr19 41903766 41903766 C A rs34541442 BCKDHA Synonymous SNV R12R 0.016 0.013 0.017 4 19 5 0.01 5 0 0 0 0 Benign 12.83 32276 chr8 110437384 110437384 A G rs4735133 PKHD1L1 Nonsynonymous SNV H923R 0.412 0.456 0.493 157 484 175 0.403 145 124 48 39 36 1.093 32277 chr19 41916549 41916549 C A rs11549936 BCKDHA Nonsynonymous SNV P39H 0.162 0.151 0.156 60 190 58 0.154 46 13 3 3 1 Benign/Likely benign 2.132 32278 chr8 110448635 110448635 A G rs10093885 PKHD1L1 Nonsynonymous SNV T1192A 0.22 0.221 0.231 70 258 85 0.179 68 26 12 9 4 9.726 32279 chr1 226027548 226027548 C T rs34143170 EPHX1 Synonymous SNV H247H 0.043 0.063 0.048 33 50 24 0.085 14 1 0 2 1 13.35 32280 chr19 1784826 1784826 G A rs760412040 ATP8B3 Nonsynonymous SNV R1181C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.05 32281 chr19 38379634 38379634 C T rs145179229 WDR87 Synonymous SNV E1559E 0.003 0.008 0 0 3 3 0 0 0 0 0 0 9.226 32282 chr8 110455321 110455321 C A rs1673408 PKHD1L1 Nonsynonymous SNV R1514S 0.443 0.469 0.483 165 520 180 0.423 142 123 46 38 35 12.87 32283 chr8 11667179 11667179 C T rs8417 FDFT1 Synonymous SNV N126N 0.22 0.185 0.187 86 258 71 0.221 55 25 3 7 8 11.73 32284 chr19 38905683 38905683 A G rs10412098 RASGRP4 Synonymous SNV G248G 0.121 0.122 0.146 38 142 47 0.097 43 8 2 5 3 6.735 32285 chr19 41932063 41932063 A G rs45563938 B3GNT8 Synonymous SNV S207S 0.165 0.161 0.156 64 194 62 0.164 46 13 3 3 2 12.98 32286 chr8 110457011 110457011 A G rs72687015 PKHD1L1 Nonsynonymous SNV Y1638C 0.201 0.211 0.218 66 236 81 0.169 64 23 9 8 5 14.49 32287 chr8 11689119 11689119 G C rs9205 FDFT1 Synonymous SNV L157L 0.217 0.198 0.224 91 255 76 0.233 66 28 6 9 7 8.985 32288 chr8 11706581 11706581 T G rs13332 CTSB Synonymous SNV T140T 0.58 0.544 0.541 224 681 209 0.574 159 190 54 47 61 9.868 32289 chr8 110460488 110460488 G T rs1673407 PKHD1L1 Nonsynonymous SNV V1965L 0.444 0.474 0.49 164 521 182 0.421 144 123 46 39 34 0.311 32290 chr8 11710888 11710888 G C rs12338 CTSB Nonsynonymous SNV L26V 0.399 0.365 0.374 164 469 140 0.421 110 100 18 21 36 16.4 32291 chr8 110465060 110465060 G C rs1673404 PKHD1L1 Synonymous SNV L2207L 0.422 0.461 0.466 159 496 177 0.408 137 107 41 36 34 4.746 32292 chr8 110476993 110476993 A G rs1673398 PKHD1L1 Synonymous SNV A2644A 0.424 0.461 0.466 159 498 177 0.408 137 109 41 36 34 0.003 32293 chr19 44471252 44471252 T C rs61734609 ZNF221 Nonsynonymous SNV L533P 0.078 0.07 0.078 24 91 27 0.062 23 0 1 0 0 0.071 32294 chr19 38886278 38886278 C T rs747762330 SPRED3 Synonymous SNV A242A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.15 32295 chr8 110489620 110489620 A T rs1783148 PKHD1L1 Synonymous SNV T3028T 0.292 0.31 0.33 101 343 119 0.259 97 51 21 21 10 0.001 32296 chr19 44501627 44501627 T C rs35292176 LOC101928063 0.629 0.659 0.514 234 738 253 0.6 151 223 81 54 67 0.387 32297 chr8 110491840 110491840 C G rs1783147 PKHD1L1 Nonsynonymous SNV H3050Q 0.294 0.313 0.33 101 345 120 0.259 97 51 21 21 10 3.006 32298 chr8 110587975 110587975 C T rs61734661 SYBU Synonymous SNV L254L 0.147 0.12 0.146 46 172 46 0.118 43 11 1 2 2 9.022 32299 chr19 38981284 38981284 A G rs2228068 RYR1 Synonymous SNV K2013K 0.122 0.122 0.129 45 143 47 0.115 38 9 2 2 3 Benign 0.37 32300 chr19 4454000 4454000 G A rs11909 UBXN6 Synonymous SNV A5A 0.413 0.365 0.259 147 485 140 0.377 76 109 28 20 23 14.64 32301 chr8 110657514 110657514 G A rs3108849 LOC100132813 0.926 0.924 0.918 352 1087 355 0.903 270 504 163 125 159 4.139 32302 chr19 38993556 38993556 C T rs1469698 RYR1 Synonymous SNV R2624R 0.121 0.128 0.095 44 142 49 0.113 28 13 1 3 4 Benign 14.77 32303 chr19 38993560 38993560 C T rs145446438 RYR1 Synonymous SNV L2626L 0.017 0.003 0.003 0 20 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.71 32304 chr1 227076671 227076671 T C rs61730652 PSEN2 Synonymous SNV S236S 0.014 0.029 0.02 4 16 11 0.01 6 0 0 0 0 Benign/Likely benign 2.482 32305 chr8 113237045 113237045 C T rs4876458 CSMD3 Synonymous SNV A3493A 0.18 0.169 0.18 53 211 65 0.136 53 19 5 4 7 12.13 32306 chr19 42083673 42083673 T C rs7247842 CEACAM21 Synonymous SNV L62L 0.043 0.036 0.054 13 50 14 0.033 16 3 0 0 1 0.056 32307 chr19 1796166 1796166 C T rs8100856 ATP8B3 Nonsynonymous SNV V571I 0.123 0.141 0.116 53 144 54 0.136 34 12 6 0 3 11.53 32308 chr19 39215172 39215172 T C rs12986337 ACTN4 Synonymous SNV N659N 0.082 0.068 0.065 20 96 26 0.051 19 5 0 0 1 Benign 6.823 32309 chr8 113241088 113241088 T G rs1592624 CSMD3 Nonsynonymous SNV N3421H 0.599 0.615 0.622 230 703 236 0.59 183 230 75 57 80 23.3 32310 chr19 42083739 42083739 - GAC rs3030812 CEACAM21 D85_T86insD 0.035 0.026 0.037 8 41 10 0.021 11 2 0 0 0 32311 chr19 24115977 24115977 C T rs114748867 ZNF726 Synonymous SNV F353F 0.047 0.049 0.054 24 55 19 0.062 16 1 0 1 0 10.91 32312 chr19 42083820 42083820 C G rs78133615 CEACAM21 Nonsynonymous SNV N111K 0.033 0.026 0.037 8 39 10 0.021 11 2 0 0 0 17.1 32313 chr19 24116274 24116274 C G rs139742437 ZNF726 Synonymous SNV P452P 0.047 0.049 0.048 24 55 19 0.062 14 1 0 1 0 9.171 32314 chr8 119391791 119391791 T C rs5020517 SAMD12 Synonymous SNV L157L 0.693 0.651 0.639 255 813 250 0.654 188 281 76 56 82 5.101 32315 chr19 39229089 39229089 A G rs12983010 CAPN12 Nonsynonymous SNV C287R 0.08 0.068 0.071 21 94 26 0.054 21 5 0 0 1 13.86 32316 chr8 119964052 119964052 G C rs2073618 TNFRSF11B Nonsynonymous SNV N3K 0.527 0.479 0.561 228 619 184 0.585 165 158 46 43 66 Benign 15.99 32317 chr19 39230748 39230748 C G rs34911882 CAPN12 Synonymous SNV L224L 0.082 0.068 0.065 20 96 26 0.051 19 5 0 0 1 10.85 32318 chr8 120220776 120220776 G - rs398009582 MAL2 0.891 0.846 0.956 369 1046 325 0.946 281 523 162 140 184 32319 chr8 120594802 120594802 A G rs4871364 ENPP2 Synonymous SNV H528H 0.197 0.201 0.173 69 231 77 0.177 51 17 6 2 8 7.235 32320 chr19 39307103 39307103 C T rs2229259 ECH1 Nonsynonymous SNV G217R 0.118 0.104 0.099 39 139 40 0.1 29 2 2 1 5 Benign 35 32321 chr8 120596023 120596023 A G rs10283100 ENPP2 Nonsynonymous SNV S493P 0.948 0.945 0.939 361 1113 363 0.926 276 528 173 132 166 14.13 32322 chr8 120803637 120803637 C G rs9297605 TAF2 Nonsynonymous SNV S447T 0.727 0.75 0.759 292 853 288 0.749 223 307 107 88 107 13.85 32323 chr19 31040226 31040226 C G rs146045772 ZNF536 Nonsynonymous SNV H1234D 0.016 0.013 0.003 7 19 5 0.018 1 1 0 0 0 Likely benign 19.95 32324 chr19 42132273 42132273 C T rs1041992 CEACAM4 Synonymous SNV P42P 0.024 0.031 0.034 4 28 12 0.01 10 0 1 1 0 12.19 32325 chr8 120847188 120847188 T C rs1055130 DSCC1 Nonsynonymous SNV H376R 0.727 0.75 0.752 292 854 288 0.749 221 308 107 88 107 6.062 32326 chr19 42132314 42132314 G C rs1126454 CEACAM4 Nonsynonymous SNV H29D 0.48 0.466 0.449 178 564 179 0.456 132 137 40 35 41 0.073 32327 chr8 121013770 121013770 A G rs2271900 DEPTOR Nonsynonymous SNV N103S 0.735 0.721 0.782 306 863 277 0.785 230 306 100 88 120 10.27 32328 chr8 13424583 13424583 C T rs13273355 C8orf48 Nonsynonymous SNV S28F 0.791 0.792 0.779 298 929 304 0.764 229 374 122 89 112 0.236 32329 chr19 3939928 3939928 C T rs4807536 NMRK2 Synonymous SNV Y123Y 0.029 0.034 0.054 10 34 13 0.026 16 0 0 0 1 11.3 32330 chr8 121298156 121298156 G C rs17833992 COL14A1 Nonsynonymous SNV V1342L 0.123 0.156 0.105 49 144 60 0.126 31 7 3 0 4 18.47 32331 chr1 228352160 228352160 T C rs4348717 IBA57-DT 0 0 0.997 0 0 0 0 293 0 0 146 0 0.227 32332 chr8 121530190 121530190 A G rs13258848 MTBP Synonymous SNV E782E 0.617 0.648 0.67 246 724 249 0.631 197 221 81 66 74 2.414 32333 chr8 122626979 122626979 T C rs35375618 HAS2 Synonymous SNV E343E 0.075 0.06 0.051 23 88 23 0.059 15 2 3 1 0 0.047 32334 chr19 3005474 3005474 C T rs61735274 TLE2 Synonymous SNV R497R 0.018 0.023 0.027 8 21 9 0.021 8 1 0 1 0 16.31 32335 chr8 16043667 16043667 C T rs435815 MSR1 0.21 0.177 0.211 93 246 68 0.238 62 23 5 9 11 1.954 32336 chr19 44610843 44610843 C T rs72480796 ZNF224 Nonsynonymous SNV T177M 0.107 0.143 0.071 42 126 55 0.108 21 6 1 0 4 23.8 32337 chr8 123964038 123964038 T C rs4871332 ZHX2 Synonymous SNV H96H 0.02 0.013 0.017 10 23 5 0.026 5 0 0 0 0 0.002 32338 chr19 3207422 3207422 T C rs3816054 NCLN Synonymous SNV A528A 0.072 0.049 0.068 23 85 19 0.059 20 4 0 0 1 2.6 32339 chr19 18272190 18272190 A C rs2241088 PIK3R2 Nonsynonymous SNV S234R 0.112 0.094 0.153 32 132 36 0.082 45 66 18 22 16 Benign 12.64 32340 chr8 123964767 123964767 G A rs16897795 ZHX2 Synonymous SNV Q339Q 0.02 0.013 0.017 10 23 5 0.026 5 0 0 0 0 0.452 32341 chr19 3207646 3207646 A G rs2288949 NCLN Nonsynonymous SNV K550R 0.066 0.049 0.061 21 78 19 0.054 18 3 0 0 1 18.87 32342 chr8 123966114 123966114 G A rs12548759 ZHX2 Synonymous SNV S788S 0.02 0.013 0.017 10 23 5 0.026 5 0 0 0 0 9.621 32343 chr19 39591829 39591829 G T rs117752516 ACP7 Nonsynonymous SNV R277S 0.019 0.023 0.003 12 22 9 0.031 1 1 0 0 0 28.8 32344 chr19 39913558 39913558 A G rs16973407 PLEKHG2 Nonsynonymous SNV I563V 0.081 0.086 0.058 26 95 33 0.067 17 3 3 2 3 6.446 32345 chr8 123966159 123966159 G C rs3802265 ZHX2 Synonymous SNV A803A 0.377 0.349 0.34 130 443 134 0.333 100 81 24 18 24 9.662 32346 chr19 42260569 42260569 G A rs1805223 CEACAM6 Synonymous SNV P42P 0.303 0.263 0.354 108 356 101 0.277 104 52 16 20 13 2.578 32347 chr8 124094998 124094998 G A rs117552523 TBC1D31 Nonsynonymous SNV R94H 0.017 0.003 0.007 2 20 1 0.005 2 0 0 0 0 15.31 32348 chr19 42342319 42342319 A G rs2290695 LYPD4 Synonymous SNV V41V 0.432 0.367 0.483 169 507 141 0.433 142 113 29 32 36 0.025 32349 chr19 30936431 30936431 G A rs149326839 ZNF536 Synonymous SNV K654K 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 3.018 32350 chr19 42354629 42354629 T C rs2305809 DMRTC2 Synonymous SNV G284G 0.429 0.37 0.48 167 504 142 0.428 141 112 30 32 36 0.383 32351 chr8 124553222 124553222 G C rs4871385 FBXO32 Synonymous SNV P11P 0.112 0.091 0.105 40 132 35 0.103 31 5 1 1 3 12.61 32352 chr19 40196611 40196611 C T rs35541195 LGALS14 Nonsynonymous SNV R22C 0.113 0.122 0.133 52 133 47 0.133 39 4 2 6 0 18.35 32353 chr8 124658203 124658203 T C rs72711231 KLHL38 Nonsynonymous SNV K508E 0.066 0.036 0.054 15 77 14 0.038 16 5 0 1 0 19.83 32354 chr8 17396415 17396415 G C rs13259978 SLC7A2 Nonsynonymous SNV D28H 0.202 0.167 0.211 58 237 64 0.149 62 28 2 5 3 11.17 32355 chr8 124663895 124663895 G A rs16898689 KLHL38 Synonymous SNV P424P 0.117 0.091 0.105 30 137 35 0.077 31 14 2 2 2 0.951 32356 chr19 42791994 42791994 T C rs73033426 CIC Synonymous SNV D266D 0.019 0.021 0.007 10 22 8 0.026 2 0 1 0 1 0.053 32357 chr8 17419539 17419539 G A rs62622371 SLC7A2 Nonsynonymous SNV A531T 0.043 0.047 0.054 22 51 18 0.056 16 1 0 1 1 12.2 32358 chr19 42840451 42840451 C T rs149190709 MEGF8 Synonymous SNV P399P 0.019 0.003 0.007 3 22 1 0.008 2 0 0 0 0 Benign 3.22 32359 chr8 124663987 124663987 C G rs16898691 KLHL38 Nonsynonymous SNV G394R 0.074 0.052 0.058 18 87 20 0.046 17 6 0 1 0 11.06 32360 chr19 44792701 44792701 T C rs2125579 ZNF235 Nonsynonymous SNV H296R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 32361 chr8 124664113 124664113 T A rs11784175 KLHL38 Nonsynonymous SNV N352Y 0.093 0.135 0.126 34 109 52 0.087 37 5 1 2 3 8.53 32362 chr8 124664130 124664130 C T rs11780509 KLHL38 Nonsynonymous SNV R346K 0.759 0.758 0.769 309 891 291 0.792 226 339 108 89 122 0.054 32363 chr8 17541999 17541999 T C rs2979792 MTUS1 Synonymous SNV T58T 0.406 0.419 0.391 154 477 161 0.395 115 102 32 23 27 0.31 32364 chr19 4493708 4493708 A G rs892161 HDGFL2 Synonymous SNV P229P 0.597 0.612 0.51 242 701 235 0.621 150 213 69 51 72 6.373 32365 chr8 124664167 124664167 T C rs11784192 KLHL38 Nonsynonymous SNV I334V 0.804 0.826 0.813 320 944 317 0.821 239 378 129 98 129 0.001 32366 chr19 44981525 44981525 G A rs2020083 ZNF180 Synonymous SNV S366S 0.112 0.109 0.15 41 132 42 0.105 44 3 5 5 2 0.59 32367 chr8 17612875 17612875 A G rs3739407 MTUS1 Nonsynonymous SNV C148R 0.815 0.802 0.82 309 957 308 0.792 241 394 124 97 124 15.65 32368 chr8 124664792 124664792 C T rs7387544 KLHL38 Synonymous SNV S125S 0.759 0.758 0.769 309 891 291 0.792 226 339 108 89 122 9.593 32369 chr8 17739538 17739538 T C rs3739406 FGL1 Nonsynonymous SNV I72V 0.617 0.646 0.646 277 724 248 0.71 190 223 82 62 97 0.002 32370 chr8 124664873 124664873 A G rs7387792 KLHL38 Synonymous SNV H98H 0.804 0.826 0.813 320 944 317 0.821 239 378 129 98 129 0.001 32371 chr1 228482028 228482028 G C rs4653547 OBSCN Synonymous SNV L3769L 0.198 0.195 0.197 89 233 75 0.228 58 23 7 5 12 4.911 32372 chr8 124664874 124664874 T C rs7386562 KLHL38 Nonsynonymous SNV H98R 0.804 0.826 0.813 320 944 317 0.821 239 378 129 98 129 0.001 32373 chr1 228486404 228486404 C T rs56021350 OBSCN Nonsynonymous SNV T4399M 0.181 0.167 0.19 78 213 64 0.2 56 21 6 4 8 7.79 32374 chr8 17743020 17743020 G A rs484373 FGL1 Nonsynonymous SNV T15I 0.769 0.786 0.81 310 903 302 0.795 238 348 117 95 122 0.013 32375 chr19 40420087 40420087 G A rs12460562 FCGBP Synonymous SNV A969A 0.187 0.174 0.194 83 220 67 0.213 57 23 6 7 10 8.641 32376 chr19 44932521 44932521 C T rs55700709 ZNF229 Nonsynonymous SNV R806Q 0.037 0.036 0.041 12 44 14 0.031 12 0 1 0 0 11.1 32377 chr8 124696867 124696867 C T rs2294015 ANXA13 Nonsynonymous SNV V272I 0.587 0.615 0.592 234 689 236 0.6 174 201 72 52 72 8.814 32378 chr1 228494696 228494696 G A rs4653939 OBSCN Synonymous SNV A4007A 0.212 0.208 0.207 94 249 80 0.241 61 26 9 6 10 4.02 32379 chr19 40421612 40421612 T C rs34939346 FCGBP Nonsynonymous SNV N770S 0.159 0.138 0.139 65 187 53 0.167 41 16 3 3 7 15.76 32380 chr8 17796382 17796382 A G rs412750 PCM1 Nonsynonymous SNV N159S 0.757 0.786 0.806 302 889 302 0.774 237 337 114 94 118 0.003 32381 chr19 44933504 44933504 G A rs59505617 ZNF229 Synonymous SNV T478T 0.142 0.141 0.156 49 167 54 0.126 46 7 5 1 2 2.772 32382 chr8 124710729 124710729 C T rs2294013 ANXA13 Nonsynonymous SNV R86H 0.391 0.411 0.357 150 459 158 0.385 105 93 31 16 25 21.5 32383 chr19 4362691 4362691 G C rs243261 SH3GL1 Synonymous SNV P209P 0.269 0.229 0.282 104 316 88 0.267 83 48 9 12 12 4.484 32384 chr8 17796383 17796383 C T rs454755 PCM1 Synonymous SNV N159N 0.757 0.786 0.806 302 889 302 0.774 237 337 114 94 118 2.594 32385 chr19 44933706 44933706 C T rs57014690 ZNF229 Nonsynonymous SNV S411N 0.147 0.146 0.16 51 173 56 0.131 47 8 5 1 2 10.2 32386 chr1 228496014 228496014 G A rs876180 OBSCN Synonymous SNV T4223T 0.186 0.177 0.194 81 218 68 0.208 57 22 6 5 8 5.806 32387 chr8 17814814 17814814 A G rs368012910 PCM1 Nonsynonymous SNV H563R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.14 32388 chr8 124798783 124798783 A G rs76243620 FAM91A1 Synonymous SNV E95E 0.019 0.008 0.014 9 22 3 0.023 4 0 0 0 0 0.868 32389 chr8 124987478 124987478 T C rs7465584 FER1L6 Synonymous SNV S205S 0.445 0.419 0.429 184 523 161 0.472 126 119 38 29 42 0.006 32390 chr8 17814915 17814915 A G rs208753 PCM1 Nonsynonymous SNV M597V 0.759 0.786 0.806 301 891 302 0.772 237 339 114 94 118 0.002 32391 chr8 125072426 125072426 T C rs4483140 FER1L6 Synonymous SNV P960P 0.848 0.865 0.847 338 996 332 0.867 249 425 144 103 145 2.105 32392 chr19 4504474 4504474 C T rs117659123 PLIN4 Synonymous SNV Q1371Q 0.056 0.068 0.041 15 66 26 0.038 12 2 1 0 0 9.005 32393 chr19 44934653 44934653 T C rs8113370 ZNF229 Synonymous SNV K95K 0.149 0.148 0.16 52 175 57 0.133 47 9 6 1 2 0.03 32394 chr8 125072527 125072527 T G rs117275600 FER1L6 Nonsynonymous SNV V994G 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Likely benign 28.2 32395 chr8 17819572 17819572 C T rs3780103 PCM1 Synonymous SNV P784P 0.532 0.542 0.558 227 625 208 0.582 164 165 54 47 75 12.65 32396 chr1 228504591 228504591 C A rs61825301 OBSCN Nonsynonymous SNV H4489Q 0.181 0.167 0.187 78 213 64 0.2 55 21 6 4 8 13.19 32397 chr8 125072709 125072709 A G rs13258808 FER1L6-AS2 0.848 0.865 0.83 338 995 332 0.867 244 425 144 103 145 5.272 32398 chr1 228504669 228504669 G A rs61825302 OBSCN Synonymous SNV A4515A 0.179 0.164 0.19 77 210 63 0.197 56 21 6 4 8 8.381 32399 chr8 125076589 125076589 T G rs7012186 FER1L6 Nonsynonymous SNV D1110E 0.847 0.859 0.844 336 994 330 0.862 248 423 142 102 143 0.001 32400 chr8 125107201 125107201 G A rs6470219 FER1L6 Synonymous SNV P1539P 0.842 0.857 0.837 336 989 329 0.862 246 419 142 101 143 4.544 32401 chr1 228505204 228505204 G A rs4653942 OBSCN Nonsynonymous SNV R4534H 0.212 0.208 0.201 93 249 80 0.238 59 26 9 6 10 22.9 32402 chr8 125107207 125107207 C T rs6470220 FER1L6 Synonymous SNV V1541V 0.843 0.857 0.84 336 990 329 0.862 247 420 142 101 143 12.87 32403 chr19 40928944 40928944 A G rs4150992 SERTAD1 Synonymous SNV L170L 0.13 0.122 0.146 56 153 47 0.144 43 9 3 4 2 4.872 32404 chr8 126059550 126059550 G A rs772858270 WASHC5 Synonymous SNV Y653Y 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 9.578 32405 chr19 44153255 44153255 G A rs4251950 PLAUR Synonymous SNV T220T 0.013 0 0.014 0 15 0 0 4 0 0 0 0 7.56 32406 chr8 126443348 126443348 C T rs2385113 TRIB1 Synonymous SNV S68S 0.474 0.49 0.476 202 556 188 0.518 140 139 49 34 59 10.28 32407 chr8 127569495 127569495 G A LRATD2 Nonsynonymous SNV P47L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 22.7 32408 chr1 228505739 228505739 G A rs3795801 OBSCN Nonsynonymous SNV G4666S 0.181 0.167 0.19 78 212 64 0.2 56 21 6 4 8 5.818 32409 chr8 128099269 128099269 A G rs4571699 PRNCR1 0.787 0.784 0.854 323 924 301 0.828 251 358 119 111 134 13.18 32410 chr8 128099458 128099460 GTG - rs141074814 PRNCR1 0.784 0.784 0.799 323 921 301 0.828 235 355 119 105 134 32411 chr8 131124559 131124559 T C rs966185 ASAP1 Nonsynonymous SNV I728V 0.447 0.409 0.473 164 525 157 0.421 139 114 45 35 34 1.901 32412 chr19 40964312 40964312 G A rs1061197 BLVRB Synonymous SNV L74L 0.106 0.102 0.122 40 125 39 0.103 36 8 4 2 1 10.14 32413 chr8 131921956 131921956 A G rs12547243 ADCY8 Synonymous SNV P546P 0.675 0.695 0.629 256 792 267 0.656 185 269 94 56 83 0.08 32414 chr8 132002770 132002770 G A rs2228950 ADCY8 Synonymous SNV L327L 0.25 0.216 0.207 79 293 83 0.203 61 30 9 9 5 9.227 32415 chr19 18876258 18876258 G A rs36070283 CRTC1 Nonsynonymous SNV V311I 0.056 0.049 0.088 21 66 19 0.054 26 4 0 0 1 12.31 32416 chr8 132982824 132982824 A G rs1051221 EFR3A Nonsynonymous SNV N329D 0.58 0.536 0.49 218 681 206 0.559 144 198 55 33 63 0.701 32417 chr1 228525008 228525008 G A rs3795809 OBSCN Nonsynonymous SNV R5575H 0.135 0.12 0.156 60 158 46 0.154 46 11 5 2 4 24.9 32418 chr8 133047071 133047071 G A rs11779306 OC90 Synonymous SNV H230H 0.238 0.281 0.272 105 279 108 0.269 80 39 11 10 13 1.365 32419 chr1 228526011 228526011 C T rs11577699 OBSCN Synonymous SNV A5674A 0.15 0.135 0.16 63 176 52 0.162 47 17 5 3 4 12.71 32420 chr8 133053309 133053309 T C rs7386782 OC90 Nonsynonymous SNV S147G 0.65 0.693 0.69 248 763 266 0.636 203 250 94 73 81 0.06 32421 chr8 19171316 19171316 C T rs28366046 SH2D4A Nonsynonymous SNV P10S 0.024 0.016 0.02 9 28 6 0.023 6 0 0 0 0 12.76 32422 chr8 133053318 133053318 T C rs7386783 OC90 Nonsynonymous SNV N144D 0.65 0.693 0.69 248 763 266 0.636 203 250 94 73 81 0.007 32423 chr19 4511737 4511737 T C rs57610751 PLIN4 Synonymous SNV K745K 0.198 0.198 0.187 67 232 76 0.172 55 6 2 0 0 0.015 32424 chr19 41197997 41197997 G A rs56276635 COQ8B Synonymous SNV D485D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 11.31 32425 chr19 4511746 4511746 A T rs62115192 PLIN4 Nonsynonymous SNV N742K 0.014 0.013 0.003 6 16 5 0.015 1 0 0 0 0 0.76 32426 chr8 19177103 19177103 A G rs2280444 SH2D4A Synonymous SNV L15L 0.072 0.081 0.058 31 85 31 0.079 17 4 1 1 1 7.879 32427 chr19 41198270 41198270 G A rs139130454 COQ8B Synonymous SNV S394S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.05 32428 chr8 133089975 133089975 A G rs2280851 HHLA1 Nonsynonymous SNV L390S 0.739 0.724 0.772 281 867 278 0.721 227 320 101 90 103 0.449 32429 chr19 41206060 41206060 G C rs36012476 COQ8B Nonsynonymous SNV T311R 0.071 0.057 0.065 30 83 22 0.077 19 4 0 0 1 Benign 2.202 32430 chr8 133092138 133092138 G A rs2403730 HHLA1 Nonsynonymous SNV P251L 0.379 0.38 0.35 153 445 146 0.392 103 82 23 20 27 12.57 32431 chr19 1912157 1912157 T G rs760510020 ADAT3 Synonymous SNV P21P 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 Likely benign 0.144 32432 chr8 19316086 19316086 G A rs12155539 CSGALNACT1 Synonymous SNV H234H 0.299 0.318 0.286 136 351 122 0.349 84 51 22 9 28 8.5 32433 chr19 41220529 41220529 C T rs11673492 COQ8B Synonymous SNV L3L 0.196 0.193 0.184 76 230 74 0.195 54 21 7 4 5 Benign 9.934 32434 chr19 44419174 44419174 C T rs143625098 ZNF45 Synonymous SNV L138L 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 11.51 32435 chr19 33703254 33703254 G A rs115581846 SLC7A10 Synonymous SNV A244A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 12.59 32436 chr8 133101818 133101818 G A rs6471038 HHLA1 Synonymous SNV I159I 0.949 0.956 0.939 365 1114 367 0.936 276 528 177 129 170 14.17 32437 chr8 133107830 133107830 T C rs7833441 HHLA1 Synonymous SNV V128V 0.97 0.969 0.963 370 1139 372 0.949 283 552 181 136 175 0.171 32438 chr8 133637659 133637659 G A rs2293979 LRRC6 Nonsynonymous SNV T150I 0.418 0.396 0.384 137 491 152 0.351 113 103 29 27 25 Benign 0.002 32439 chr19 41622481 41622481 G C rs57670668 CYP2F1 Nonsynonymous SNV R98P 0.01 0.021 0.01 3 12 8 0.008 3 0 0 0 0 Benign 25.2 32440 chr1 228612892 228612892 G A rs56336130 H3-4 Synonymous SNV G45G 0.083 0.083 0.102 29 98 32 0.074 30 6 2 3 1 0.114 32441 chr8 19818436 19818436 C A rs316 LPL Synonymous SNV T388T 0.11 0.107 0.133 46 129 41 0.118 39 6 2 3 1 Benign 14.41 32442 chr8 133844508 133844508 C T rs16904746 PHF20L1 Synonymous SNV L565L 0.435 0.435 0.517 162 511 167 0.415 152 117 30 41 40 16.22 32443 chr19 19391045 19391045 G A rs17751021 SUGP1 Synonymous SNV G433G 0.043 0.039 0.027 9 51 15 0.023 8 2 2 0 0 12.07 32444 chr8 133900252 133900252 T G rs180223 TG Nonsynonymous SNV S734A 0.547 0.56 0.656 211 642 215 0.541 193 185 60 68 60 Benign 6.491 32445 chr1 22902772 22902772 C T rs56218493 EPHA8 Synonymous SNV N74N 0.129 0.143 0.109 38 152 55 0.097 32 7 3 2 1 11.3 32446 chr19 3546340 3546340 G A rs11555328 MFSD12 Synonymous SNV Y360Y 0.141 0.143 0.177 65 166 55 0.167 52 10 4 2 6 0.516 32447 chr1 22915674 22915674 G A rs56044578 EPHA8 Synonymous SNV V430V 0.112 0.122 0.105 36 131 47 0.092 31 5 2 2 1 5.985 32448 chr8 133900386 133900386 T C rs2069550 TG Synonymous SNV P778P 0.546 0.557 0.656 211 641 214 0.541 193 184 59 68 60 Benign 0.006 32449 chr8 133909974 133909974 A G rs853326 TG Nonsynonymous SNV M1028V 0.558 0.573 0.656 215 655 220 0.551 193 188 65 68 62 Benign 0.001 32450 chr1 22915858 22915858 C T rs76452513 EPHA8 Nonsynonymous SNV L492F 0.111 0.122 0.105 37 130 47 0.095 31 5 2 3 1 7.745 32451 chr8 133920518 133920518 A G rs2069556 TG Nonsynonymous SNV D1312G 0.543 0.555 0.578 205 637 213 0.526 170 180 63 55 52 Benign 0.745 32452 chr19 19737686 19737686 C T rs33982830 LPAR2 Synonymous SNV V136V 0.209 0.211 0.201 64 245 81 0.164 59 22 9 2 6 12.31 32453 chr19 19766726 19766726 G A rs61752462 ATP13A1 Synonymous SNV C410C 0.036 0.034 0.01 3 42 13 0.008 3 0 1 0 0 6.778 32454 chr8 133931748 133931748 T C rs853304 TG Synonymous SNV A1502A 0.539 0.552 0.582 204 633 212 0.523 171 181 63 55 52 Benign 0.024 32455 chr19 45162189 45162189 C A rs35385129 PVR Nonsynonymous SNV R391S 0.142 0.154 0.143 46 167 59 0.118 42 8 4 4 2 9.295 32456 chr19 1979386 1979386 C T rs11550450 CSNK1G2 Synonymous SNV L279L 0.066 0.073 0.034 27 78 28 0.069 10 4 0 2 0 12.88 32457 chr8 133975283 133975283 G A rs2069561 TG Nonsynonymous SNV D1838N 0.428 0.427 0.483 166 503 164 0.426 142 112 35 36 32 Benign 3.741 32458 chr19 45211407 45211407 C T rs61744497 CEACAM16 Synonymous SNV T405T 0.112 0.104 0.116 34 132 40 0.087 34 8 3 3 1 Benign 15.11 32459 chr19 44496070 44496070 A G rs431509 ZNF155 Synonymous SNV Q73Q 0.364 0.326 0.33 137 427 125 0.351 97 69 16 14 21 0.015 32460 chr8 133984058 133984058 C T rs2076740 TG Nonsynonymous SNV R1999W 0.387 0.378 0.418 148 454 145 0.379 123 96 23 18 30 Benign 17.87 32461 chr1 22970642 22970642 C T rs15940 C1QC Synonymous SNV P42P 0.267 0.289 0.221 102 314 111 0.262 65 46 18 11 11 16.89 32462 chr8 134474148 134474148 C T rs1048479 ST3GAL1 Synonymous SNV S273S 0.523 0.534 0.534 222 614 205 0.569 157 165 56 43 63 18.1 32463 chr8 21982847 21982847 G A rs76294724 HR Nonsynonymous SNV A576V 0.009 0.021 0.014 10 10 8 0.026 4 0 0 0 0 Benign 22.7 32464 chr19 45395714 45395714 T C rs157581 TOMM40 Synonymous SNV F113F 0.193 0.182 0.126 67 227 70 0.172 37 26 4 2 8 7.983 32465 chr8 134488007 134488007 G A rs2230542 ST3GAL1 Synonymous SNV T87T 0.539 0.542 0.52 204 633 208 0.523 153 175 57 37 54 3.417 32466 chr19 45396144 45396144 C T rs11556505 TOMM40 Synonymous SNV F131F 0.106 0.07 0.071 35 124 27 0.09 21 6 0 1 2 19.1 32467 chr8 135524797 135524797 G T rs3739429 ZFAT Synonymous SNV I1032I 0.101 0.104 0.105 36 119 40 0.092 31 12 0 1 2 13.1 32468 chr8 135612595 135612595 A G rs894343 ZFAT-AS1 0.643 0.63 0.69 247 755 242 0.633 203 262 81 69 86 2.203 32469 chr8 135612745 135612745 A G rs894344 ZFAT Synonymous SNV D741D 0.34 0.32 0.35 142 399 123 0.364 103 59 19 15 33 12.74 32470 chr19 44501518 44501518 G A rs446016 ZNF155 Synonymous SNV P503P 0.358 0.326 0.323 153 420 125 0.392 95 68 21 13 28 3.822 32471 chr19 45411941 45411941 T C rs429358 APOE Nonsynonymous SNV C130R 0.087 0.089 0.054 31 102 34 0.079 16 4 1 0 0 Pathogenic/Likely pathogenic, other, risk factor 0.007 32472 chr8 135614705 135614705 A G rs3739423 ZFAT Synonymous SNV R357R 0.685 0.672 0.721 259 804 258 0.664 212 285 86 74 91 0.007 32473 chr8 21985100 21985100 G A rs763856338 HR Synonymous SNV G285G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 2.495 32474 chr8 135614972 135614972 A G rs3739422 ZFAT Synonymous SNV Y268Y 0.246 0.232 0.255 112 289 89 0.287 75 32 8 8 18 0.004 32475 chr8 21997738 21997738 A T rs35574275 REEP4 Synonymous SNV I43I 0.082 0.099 0.075 46 96 38 0.118 22 3 1 2 5 0.187 32476 chr8 135649848 135649848 G A rs12541381 ZFAT Nonsynonymous SNV P90S 0.236 0.247 0.207 74 277 95 0.19 61 36 8 6 4 0.002 32477 chr8 22059323 22059323 C T rs61729094 BMP1 Synonymous SNV D705D 0.066 0.063 0.031 20 78 24 0.051 9 3 1 0 0 Benign 15.11 32478 chr8 139164192 139164192 G A rs3750306 FAM135B Synonymous SNV P842P 0.365 0.313 0.296 142 428 120 0.364 87 88 14 17 29 6.678 32479 chr8 139165068 139165068 C T rs3763590 FAM135B Synonymous SNV V550V 0.364 0.313 0.296 142 427 120 0.364 87 88 14 17 29 12.62 32480 chr1 230914729 230914729 A C rs1933631 CAPN9 Nonsynonymous SNV K259Q 0.354 0.315 0.286 122 416 121 0.313 84 85 24 17 15 0.037 32481 chr8 139165272 139165272 T C rs7835712 FAM135B Synonymous SNV P482P 0.707 0.685 0.707 247 830 263 0.633 208 304 90 74 76 0.034 32482 chr19 4524016 4524016 G A rs1062223 PLIN5 Nonsynonymous SNV R306W 0.176 0.156 0.173 66 207 60 0.169 51 22 5 3 5 28.8 32483 chr8 139165273 139165273 G A rs13280444 FAM135B Nonsynonymous SNV P482L 0.364 0.313 0.296 141 427 120 0.362 87 87 14 17 29 0.12 32484 chr1 230923313 230923313 C T rs12731961 CAPN9 Nonsynonymous SNV R459W 0.191 0.164 0.19 79 224 63 0.203 56 23 5 9 6 23.6 32485 chr19 44571260 44571260 C A rs148654869 ZNF223 Nonsynonymous SNV P427T 0.014 0.005 0.003 4 16 2 0.01 1 0 0 0 0 23.5 32486 chr8 139165289 139165289 T C rs7835830 FAM135B Nonsynonymous SNV I477V 0.704 0.68 0.707 247 827 261 0.633 208 301 89 74 76 0.001 32487 chr19 4457650 4457650 C T rs1044510 UBXN6 Synonymous SNV K15K 0.29 0.258 0.238 104 341 99 0.267 70 50 9 12 12 16.06 32488 chr19 45296806 45296806 C T rs3208856 CBLC Nonsynonymous SNV H359Y 0.026 0.029 0.01 7 31 11 0.018 3 0 2 0 0 18.08 32489 chr8 139647262 139647262 A G rs10091563 COL22A1 Synonymous SNV P1200P 0.806 0.794 0.854 334 946 305 0.856 251 405 131 106 144 1.173 32490 chr19 45655333 45655333 T C rs28469095 NKPD1 Nonsynonymous SNV R788G 0.112 0.096 0.082 30 131 37 0.077 24 10 1 2 1 0.052 32491 chr8 139697478 139697478 T C rs9644500 COL22A1 Synonymous SNV P980P 0.559 0.547 0.636 225 656 210 0.577 187 181 58 62 72 0.206 32492 chr19 45315445 45315445 G A rs28399653 BCAM Nonsynonymous SNV R77H 0.022 0.031 0.01 7 26 12 0.018 3 0 2 0 0 Benign 23.1 32493 chr1 231727447 231727447 A G rs1655305 LINC00582 0 0 0.673 0 0 0 0 198 0 0 66 0 1.798 32494 chr8 139824057 139824057 G A rs10101430 COL22A1 Synonymous SNV C478C 0.553 0.534 0.558 217 649 205 0.556 164 173 52 58 62 7.078 32495 chr19 45316588 45316588 G A rs28399654 BCAM Nonsynonymous SNV V196I 0.022 0.031 0.01 7 26 12 0.018 3 0 2 0 0 3.355 32496 chr8 139838912 139838912 T C rs2292927 COL22A1 Nonsynonymous SNV S320G 0.797 0.807 0.854 313 936 310 0.803 251 377 123 108 125 21.1 32497 chr19 45322744 45322744 A G rs1135062 BCAM Nonsynonymous SNV T539A 0.306 0.313 0.364 123 359 120 0.315 107 48 18 20 15 Benign 0.001 32498 chr8 140630990 140630990 A G rs2615374 KCNK9 Synonymous SNV G212G 0.647 0.674 0.616 260 760 259 0.667 181 254 92 57 91 0.001 32499 chr8 141460918 141460918 C T rs57593250 TRAPPC9 Synonymous SNV K185K 0.072 0.086 0.082 32 85 33 0.082 24 5 1 1 4 Benign/Likely benign 9.083 32500 chr19 46095110 46095110 C T rs138937906 GPR4 Synonymous SNV T5T 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 13.47 32501 chr8 22960553 22960553 C A rs41308122 LOC254896 0.02 0.029 0.007 10 24 11 0.026 2 0 0 0 0 11.6 32502 chr8 141461062 141461062 G A rs3735803 TRAPPC9 Synonymous SNV N137N 0.469 0.461 0.456 181 551 177 0.464 134 136 41 32 41 Benign 2.328 32503 chr19 42265889 42265889 G T rs11548735 CEACAM6 Nonsynonymous SNV G239V 0.383 0.349 0.374 144 450 134 0.369 110 86 25 22 26 0.01 32504 chr19 45397229 45397229 G A rs1160983 TOMM40 Synonymous SNV S183S 0.037 0.049 0.044 19 44 19 0.049 13 1 2 0 0 15.62 32505 chr8 141461074 141461074 A G rs61739560 TRAPPC9 Synonymous SNV A133A 0.072 0.086 0.082 31 85 33 0.079 24 5 1 1 4 Benign/Likely benign 0.099 32506 chr1 232941354 232941354 G T rs12567597 MAP10 Synonymous SNV L195L 0.105 0.094 0.139 44 123 36 0.113 41 3 1 3 2 9.234 32507 chr8 141461116 141461116 C T rs34457678 TRAPPC9 Synonymous SNV G119G 0.072 0.086 0.082 31 85 33 0.079 24 5 1 1 4 Benign/Likely benign 9.84 32508 chr19 42312895 42312895 G A rs368017478 CEACAM3 Nonsynonymous SNV V157M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.956 32509 chr8 141461185 141461185 A G rs3735802 TRAPPC9 Synonymous SNV F96F 0.546 0.552 0.537 212 641 212 0.544 158 179 58 45 58 Benign 0.692 32510 chr19 45412079 45412079 C T rs7412 APOE Nonsynonymous SNV R176C 0.083 0.094 0.054 34 98 36 0.087 16 3 2 0 2 drug response 30 32511 chr8 141461266 141461266 A G rs3735801 TRAPPC9 Synonymous SNV G69G 0.546 0.552 0.541 212 641 212 0.544 159 179 58 45 58 Benign 0.08 32512 chr8 141568622 141568622 G A rs2292778 AGO2 Synonymous SNV R280R 0.495 0.469 0.5 216 581 180 0.554 147 149 39 35 62 11.04 32513 chr1 233134889 233134889 C T PCNX2 Synonymous SNV L1855L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.181 32514 chr8 142138860 142138860 C G rs3739232 DENND3 Synonymous SNV L18L 0.532 0.539 0.354 190 624 207 0.487 104 188 63 34 46 19.46 32515 chr8 142146708 142146708 T C rs307772 DENND3 Star tloss M68T 0.72 0.724 0.786 269 845 278 0.69 231 313 97 90 95 5.906 32516 chr19 44661162 44661162 T C rs895356223 ZNF234 Synonymous SNV L331L 0.005 0 0 0 6 0 0 0 0 0 0 0 3.058 32517 chr8 142170884 142170884 C T rs2289001 DENND3 Synonymous SNV F450F 0.259 0.242 0.357 105 304 93 0.269 105 38 6 20 13 Uncertain significance 17.96 32518 chr8 142202884 142202884 T C rs7014062 DENND3 Nonsynonymous SNV V1253A 0.622 0.57 0.646 228 730 219 0.585 190 228 62 59 70 3.384 32519 chr8 142222374 142222374 A G rs7017848 SLC45A4 Synonymous SNV G690G 0.552 0.508 0.588 221 648 195 0.567 173 178 48 49 63 3.606 32520 chr8 142222445 142222445 T C rs3739238 SLC45A4 Nonsynonymous SNV N667D 0.556 0.523 0.588 221 653 201 0.567 173 182 50 49 63 0.768 32521 chr8 142225990 142225990 G A rs2288998 SLC45A4 Synonymous SNV V552V 0.172 0.182 0.269 71 202 70 0.182 79 16 5 6 10 8.851 32522 chr19 45682824 45682824 G A rs758506 BLOC1S3 Synonymous SNV A90A 0.08 0.107 0.099 32 94 41 0.082 29 9 5 4 3 Benign 8.232 32523 chr19 42740863 42740863 G A rs55744031 GSK3A Synonymous SNV D187D 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 10.6 32524 chr19 3614538 3614538 C T rs60651483 CACTIN Synonymous SNV S404S 0.055 0.039 0.061 20 64 15 0.051 18 1 0 0 1 19.04 32525 chr8 142228809 142228809 T C rs753779 SLC45A4 Synonymous SNV A259A 0.547 0.516 0.602 222 642 198 0.569 177 180 48 51 63 0.017 32526 chr1 234529519 234529519 C T rs1802871 TARBP1 Synonymous SNV P1436P 0.129 0.109 0.092 54 151 42 0.138 27 9 1 2 5 11.46 32527 chr19 3618928 3618928 G A rs3746125 CACTIN Synonymous SNV I369I 0.053 0.039 0.058 18 62 15 0.046 17 1 0 0 1 13.29 32528 chr8 142229891 142229891 A G rs2304279 SLC45A4 Synonymous SNV I105I 0.544 0.503 0.599 220 639 193 0.564 176 176 47 50 63 3.208 32529 chr1 234529540 234529540 G A rs1134756 TARBP1 Synonymous SNV D1429D 0.129 0.109 0.092 54 151 42 0.138 27 9 1 2 5 7.382 32530 chr19 4283059 4283059 G A rs2287714 SHD Nonsynonymous SNV G138S 0.034 0.039 0.024 10 40 15 0.026 7 2 0 0 0 0.011 32531 chr19 46543566 46543566 C T rs17271272 IGFL4 Nonsynonymous SNV R60Q 0.235 0.253 0.187 77 276 97 0.197 55 26 8 6 3 0.063 32532 chr8 142238339 142238339 C A rs34650936 SLC45A4 Synonymous SNV G9G 0.093 0.091 0.139 37 109 35 0.095 41 7 2 2 3 11.42 32533 chr8 142266691 142266691 A C rs7002500 LOC105375787 0.649 0.643 0.626 253 762 247 0.649 184 248 79 55 84 0.046 32534 chr1 234541801 234541801 A G rs12073170 TARBP1 Synonymous SNV C1279C 0.095 0.096 0.071 34 111 37 0.087 21 4 2 1 1 1.248 32535 chr8 142367335 142367335 T C rs10875472 GPR20 Nonsynonymous SNV H230R 0.826 0.82 0.789 322 970 315 0.826 232 401 132 93 132 0.001 32536 chr1 234569192 234569192 T C rs3754311 TARBP1 Synonymous SNV A786A 0.234 0.185 0.19 103 275 71 0.264 56 31 4 4 13 7.394 32537 chr1 234573025 234573025 T C rs2273872 TARBP1 Nonsynonymous SNV N743S 0.013 0.005 0.01 2 15 2 0.005 3 0 0 0 0 0.002 32538 chr8 142367400 142367400 G A rs11167054 GPR20 Synonymous SNV P208P 0.825 0.818 0.786 322 969 314 0.826 231 400 131 92 132 0.01 32539 chr19 4684642 4684642 A G rs8105807 DPP9-AS1 0.435 0.419 0 160 511 161 0.41 0 107 29 0 31 4.883 32540 chr1 234603290 234603290 C T rs17378453 TARBP1 Synonymous SNV L402L 0.055 0.039 0.024 11 64 15 0.028 7 1 0 0 0 14.39 32541 chr8 142367559 142367559 G A rs11785629 GPR20 Synonymous SNV P155P 0.633 0.643 0.636 255 743 247 0.654 187 240 78 60 86 1.252 32542 chr8 23423697 23423697 G A rs3736032 SLC25A37 Nonsynonymous SNV R96Q 0.073 0.081 0.068 15 86 31 0.038 20 3 0 0 0 19.39 32543 chr1 234744413 234744413 C A rs4636 IRF2BP2 Synonymous SNV A276A 0.443 0.466 0.323 162 520 179 0.415 95 116 44 23 33 Benign 16.57 32544 chr8 142505038 142505038 T C rs6578193 MROH5 0.778 0.729 0.789 303 913 280 0.777 232 357 103 88 120 23.6 32545 chr8 143603418 143603418 G C rs7460600 ADGRB1 Synonymous SNV A1039A 0.984 0.987 0.912 367 1155 379 0.941 268 569 187 130 172 12.08 32546 chr8 23429329 23429329 T C rs1047384 SLC25A37 Synonymous SNV F175F 0.051 0.044 0.031 16 60 17 0.041 9 0 1 0 0 0.378 32547 chr19 42351622 42351622 C T rs201763027 DMRTC2 Synonymous SNV C42C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 14.89 32548 chr19 47137459 47137459 C T rs12974613 GNG8 Synonymous SNV V29V 0.306 0.346 0.316 135 359 133 0.346 93 42 21 17 26 13.23 32549 chr8 143695144 143695144 G A rs2234911 ARC Synonymous SNV D163D 0.497 0.513 0.435 188 584 197 0.482 128 146 49 30 48 0.234 32550 chr8 143746088 143746089 CA - rs33951456 JRK 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 32551 chr8 143763490 143763490 T C rs2978982 PSCA Synonymous SNV A95A 0.423 0.401 0.442 159 497 154 0.408 130 109 29 28 33 0.049 32552 chr19 425182 425182 G A rs61735134 SHC2 Synonymous SNV D408D 0.081 0.104 0.088 34 95 40 0.087 26 3 2 2 5 0.138 32553 chr19 44981291 44981291 T C rs758624678 ZNF180 Synonymous SNV Q444Q 0.005 0 0 0 6 0 0 0 0 0 0 0 0.003 32554 chr19 36394272 36394272 T C rs33964243 HCST Synonymous SNV T21T 0.025 0.023 0.037 7 29 9 0.018 11 0 0 1 0 2.885 32555 chr8 143763547 143763547 C A rs1045531 PSCA Synonymous SNV L114L 0.423 0.401 0.442 159 497 154 0.408 130 109 29 28 33 8.751 32556 chr8 24256470 24256470 C T rs2291577 ADAMDEC1 Synonymous SNV S203S 0.405 0.393 0.35 196 476 151 0.503 103 87 29 18 50 12.18 32557 chr19 44981318 44981318 G A rs954313 ZNF180 Synonymous SNV T435T 0.067 0.07 0.095 24 79 27 0.062 28 0 3 1 0 7.657 32558 chr19 42729800 42729800 A G ZNF526 Synonymous SNV A415A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.002 32559 chr19 36394678 36394678 T C rs8106495 HCST Synonymous SNV S38S 0.025 0.023 0.034 7 29 9 0.018 10 0 0 1 0 4.675 32560 chr8 143845950 143845950 A G rs2585187 SLURP2 Synonymous SNV A71A 0.945 0.924 0.932 363 1110 355 0.931 274 528 165 129 170 5.637 32561 chr8 24261526 24261526 A G rs3765124 ADAMDEC1 Nonsynonymous SNV N365S 0.413 0.398 0.357 198 485 153 0.508 105 92 30 18 51 0.121 32562 chr19 36398414 36398414 C A rs77782321 TYROBP Nonsynonymous SNV V44L 0.007 0.008 0.02 6 8 3 0.015 6 0 0 0 0 Benign 3.872 32563 chr8 143845953 143845953 T C rs2717554 SLURP2 Synonymous SNV T70T 0.947 0.927 0.932 364 1112 356 0.933 274 528 165 129 170 5.046 32564 chr19 36430627 36430627 C T rs150948583 LRFN3 Synonymous SNV A100A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.275 32565 chr8 144295154 144295154 C T rs61747644 GPIHBP1 Synonymous SNV L4L 0.138 0.096 0.139 47 162 37 0.121 41 8 3 2 3 7.595 32566 chr19 36435840 36435840 G A rs189953791 LRFN3 Synonymous SNV E602E 0.005 0 0.024 4 6 0 0.01 7 0 0 0 0 0.476 32567 chr8 144332082 144332082 T C rs11136275 ZFP41 Synonymous SNV S23S 0.424 0.456 0.459 153 498 175 0.392 135 119 36 34 34 0.075 32568 chr19 47425306 47425306 C A rs769849650 ARHGAP35 Nonsynonymous SNV A1125D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.3 32569 chr8 24346840 24346840 T C rs61752047 ADAM7 Synonymous SNV P420P 0.033 0.042 0.034 18 39 16 0.046 10 0 0 0 0 0.039 32570 chr8 144351632 144351632 A G rs6558341 GLI4 Synonymous SNV P22P 0.888 0.927 0.925 350 1043 356 0.897 272 458 164 128 156 0.049 32571 chr19 45971961 45971961 C G rs2282695 FOSB Synonymous SNV A39A 0.307 0.339 0.337 132 360 130 0.338 99 51 22 15 24 15.21 32572 chr8 24350087 24350087 C G rs201475758 ADAM7 Nonsynonymous SNV N544K 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 0.004 32573 chr8 144358381 144358381 G A rs1056148 GLI4 Nonsynonymous SNV A180T 0.394 0.396 0.422 143 462 152 0.367 124 90 24 28 30 13.01 32574 chr19 44116956 44116956 A G rs13343696 SRRM5 Nonsynonymous SNV K228R 0.211 0.195 0.248 76 248 75 0.195 73 33 7 12 4 0.152 32575 chr19 46127999 46127999 C T rs36013288 EML2 Synonymous SNV G157G 0.008 0.005 0.017 4 9 2 0.01 5 0 0 0 0 14.85 32576 chr8 144378184 144378184 C G rs2235115 ZNF696 Synonymous SNV G113G 0.374 0.383 0.449 135 439 147 0.346 132 86 23 33 28 8.697 32577 chr19 4322990 4322990 G A rs67511110 FSD1 Synonymous SNV T349T 0.066 0.073 0.054 26 78 28 0.067 16 1 0 1 1 9.928 32578 chr19 46181392 46181392 G C rs1800437 GIPR Nonsynonymous SNV E318Q 0.175 0.221 0.095 87 206 85 0.223 28 13 10 1 10 25 32579 chr19 44118191 44118191 G A rs34163641 SRRM5 Nonsynonymous SNV D640N 0.21 0.195 0.248 76 246 75 0.195 73 33 7 12 4 5.614 32580 chr8 144378868 144378868 A G rs7386259 ZNF696 Synonymous SNV R341R 0.767 0.786 0.813 299 900 302 0.767 239 342 118 99 117 8.432 32581 chr1 236706247 236706247 C T rs746770967 LGALS8 Synonymous SNV I194I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 32582 chr8 144392368 144392368 G A rs2293925 TOP1MT Nonsynonymous SNV R427W 0.308 0.339 0.429 124 362 130 0.318 126 68 21 30 27 24.2 32583 chr8 144511954 144511956 TGG - rs141816879 MAFA H208del 0.817 0.839 0.701 320 959 322 0.821 206 476 159 100 159 32584 chr8 144511995 144511995 A G rs1872900 MAFA Synonymous SNV H194H 0.999 1 0.908 387 1173 384 0.992 267 586 192 132 193 0.116 32585 chr19 2434941 2434941 C T rs62122269 MIR7108 0.164 0.19 0.15 64 193 73 0.164 44 12 4 6 6 6.807 32586 chr19 47774680 47774680 C G rs117519030 CCDC9 Synonymous SNV A447A 0.032 0.039 0.048 17 37 15 0.044 14 0 0 0 0 10.02 32587 chr19 46265029 46265029 C T rs8112282 BHMG1 Synonymous SNV S446S 0.394 0.422 0.401 161 462 162 0.413 118 105 41 18 34 11.16 32588 chr8 144522387 144522387 G T rs2272754 ZC3H3 Stop gain S880X 0.194 0.141 0.139 76 228 54 0.195 41 28 3 7 7 35 32589 chr19 46265047 46265047 - TCCAGC rs139434566 BHMG1 S465_E466insSS 0.387 0.414 0.405 156 454 159 0.4 119 102 40 19 31 32590 chr19 2438529 2438529 G A rs148213507 LMNB2 Synonymous SNV S134S 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign/Likely benign 17.23 32591 chr8 25174610 25174610 C T rs61732769 DOCK5 Nonsynonymous SNV T469M 0.005 0.008 0.01 4 6 3 0.01 3 0 0 0 0 Benign 26.4 32592 chr19 4510723 4510723 G A rs78776990 PLIN4 Synonymous SNV S1083S 0.176 0.161 0.197 67 207 62 0.172 58 27 5 6 6 2.267 32593 chr8 144522388 144522388 A T rs2272753 ZC3H3 Nonsynonymous SNV S880T 0.193 0.141 0.139 76 227 54 0.195 41 28 3 7 7 1.488 32594 chr19 43990795 43990795 G A rs117243018 PHLDB3 Nonsynonymous SNV A465V 0.042 0.034 0.014 12 49 13 0.031 4 3 0 0 0 28 32595 chr19 2833802 2833802 A G rs867168 ZNF554 Nonsynonymous SNV E190G 0.141 0.164 0.163 64 166 63 0.164 48 14 7 2 5 4.111 32596 chr19 46269076 46269076 G A rs2014576 SIX5 Nonsynonymous SNV P635S 0.373 0.404 0.361 153 438 155 0.392 106 88 37 14 29 Benign 9.424 32597 chr19 47778412 47778412 G T rs1055218 INAFM1 Nonsynonymous SNV R79L 0.347 0.37 0.344 146 407 142 0.374 101 77 25 16 26 14.18 32598 chr8 144557739 144557739 G A rs71520524 ZC3H3 Nonsynonymous SNV R578C 0.021 0.018 0.041 12 25 7 0.031 12 0 1 0 0 23.6 32599 chr19 2833864 2833864 G A rs867169 ZNF554 Nonsynonymous SNV V211I 0.141 0.164 0.163 64 166 63 0.164 48 14 7 2 5 0.001 32600 chr8 25230168 25230168 C T rs2271108 DOCK5 Synonymous SNV D1206D 0.547 0.589 0.602 206 642 226 0.528 177 168 70 54 49 12.33 32601 chr8 144620183 144620183 T C rs4874147 ZC3H3 Nonsynonymous SNV S452G 0.674 0.674 0.741 268 791 259 0.687 218 282 92 78 92 0.007 32602 chr19 46274972 46274972 A C rs915915 DM1-AS 0.394 0.422 0.405 160 462 162 0.41 119 104 41 19 33 5.816 32603 chr8 144639952 144639952 C T rs7813970 LOC100310756 0.215 0.18 0.187 84 252 69 0.215 55 27 7 6 10 2.487 32604 chr8 144644405 144644405 G A rs11551198 GSDMD Synonymous SNV P341P 0.239 0.216 0.17 91 280 83 0.233 50 31 9 6 10 6.934 32605 chr8 25267622 25267622 A G rs2709618 DOCK5 Synonymous SNV P1804P 0.585 0.62 0.629 237 687 238 0.608 185 209 70 59 71 4.871 32606 chr19 36606999 36606999 T C TBCB Synonymous SNV Y57Y 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.018 32607 chr8 144649601 144649601 A G rs13268196 MROH6 Synonymous SNV A656A 0.628 0.604 0.939 260 737 232 0.667 276 368 116 137 130 0.003 32608 chr19 46404579 46404579 A G rs10423899 MYPOP Synonymous SNV P151P 0.767 0.789 0.762 292 901 303 0.749 224 345 124 87 113 3.838 32609 chr19 47980153 47980153 G A rs2293424 KPTN Synonymous SNV P246P 0.458 0.471 0.439 186 538 181 0.477 129 122 44 30 45 13.56 32610 chr8 144649625 144649625 T C rs10097556 MROH6 Synonymous SNV R648R 0.693 0.693 0.935 288 814 266 0.738 275 407 133 136 144 1.19 32611 chr19 46404671 46404671 C T MYPOP Nonsynonymous SNV G121R 0.008 0.005 0 0 9 2 0 0 0 0 0 0 26.9 32612 chr8 144654249 144654249 G A rs10866911 MROH6 Nonsynonymous SNV T134I 0.48 0.51 0.442 182 563 196 0.467 130 127 47 27 40 21.6 32613 chr19 464310 464310 A G rs34551779 ODF3L2 Nonsynonymous SNV V135A 0.407 0.453 0.32 167 478 174 0.428 94 106 38 26 33 0.002 32614 chr8 144654255 144654255 A G rs4874153 MROH6 Nonsynonymous SNV V132A 0.843 0.846 0.772 323 990 325 0.828 227 411 137 88 135 6.978 32615 chr19 44117582 44117582 T C rs10410000 SRRM5 Nonsynonymous SNV C437R 0.118 0.122 0.065 56 139 47 0.144 19 10 2 0 3 0.002 32616 chr8 144654594 144654594 G T rs4873803 MROH6 Nonsynonymous SNV H97Q 0.442 0.474 0.435 176 519 182 0.451 128 123 46 25 38 0.603 32617 chr8 27277537 27277537 G A rs1030526 PTK2B Synonymous SNV T110T 0.369 0.362 0.381 145 433 139 0.372 112 84 27 21 23 15.18 32618 chr19 44118188 44118188 A C rs3815422 SRRM5 Nonsynonymous SNV S639R 0.13 0.133 0.085 61 153 51 0.156 25 10 2 0 3 0.151 32619 chr8 27293865 27293865 C T rs7005936 PTK2B Synonymous SNV H447H 0.357 0.326 0.313 133 419 125 0.341 92 72 20 16 21 14.51 32620 chr8 144654693 144654693 G C rs4873804 MROH6 Synonymous SNV P64P 0.477 0.505 0.432 183 560 194 0.469 127 128 47 25 41 0.121 32621 chr19 44118353 44118353 G A rs2302421 SRRM5 Nonsynonymous SNV D694N 0.128 0.133 0.082 60 150 51 0.154 24 10 2 0 3 1.244 32622 chr8 144658711 144658711 G A rs872935 NAPRT Synonymous SNV L77L 0.616 0.607 0.554 233 723 233 0.597 163 223 74 39 69 3.071 32623 chr8 144662353 144662353 G A rs1062391 EEF1D Synonymous SNV A188A 0.616 0.612 0.541 234 723 235 0.6 159 216 75 37 70 11.4 32624 chr1 236925844 236925844 G A rs12063382 ACTN2 Synonymous SNV S870S 0.129 0.122 0.136 56 152 47 0.144 40 10 4 4 4 Benign/Likely benign 5.99 32625 chr19 4670236 4670236 C G rs10401515 MYDGF Synonymous SNV T37T 0.127 0.115 0.112 40 149 44 0.103 33 7 4 2 3 19.48 32626 chr8 144671244 144671244 C A rs4874160 EEF1D Synonymous SNV R336R 0.842 0.828 0.769 325 989 318 0.833 226 415 128 103 137 11.65 32627 chr1 23696152 23696152 G A rs665977 ZNF436-AS1 0 0 0.895 0 0 0 0 263 0 0 116 0 13.88 32628 chr19 4670313 4670313 C G rs2270090 MYDGF Nonsynonymous SNV G12R 0.172 0.167 0.167 50 202 64 0.128 49 21 6 3 4 22.9 32629 chr8 144671685 144671685 G C rs6985081 EEF1D Nonsynonymous SNV D189E 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.02 32630 chr19 48244401 48244401 G A rs35910701 EHD2 Synonymous SNV K448K 0.205 0.203 0.259 69 241 78 0.177 76 17 8 8 5 12.55 32631 chr8 27373865 27373865 G A rs751141 EPHX2 Nonsynonymous SNV R221Q 0.049 0.047 0.068 18 57 18 0.046 20 0 0 1 0 risk factor 29.5 32632 chr8 144671922 144671922 G A rs3812448 EEF1D Synonymous SNV R110R 0.839 0.828 0.844 321 985 318 0.823 248 411 128 103 133 7.179 32633 chr1 237778084 237778084 G A rs3766871 RYR2 Nonsynonymous SNV G1886S 0.03 0.031 0.051 15 35 12 0.038 15 0 0 0 0 Benign/Likely benign 9.551 32634 chr8 144681777 144681777 G T rs10282929 TIGD5 Nonsynonymous SNV M568I 0.767 0.753 0.755 295 901 289 0.756 222 345 112 83 116 0.002 32635 chr8 144688736 144688736 C G rs2242090 PYCR3 Nonsynonymous SNV K130N 0.506 0.529 0.463 189 594 203 0.485 136 148 51 26 42 11.46 32636 chr8 27528446 27528446 T C rs17057523 SCARA3 Nonsynonymous SNV F467L 0.079 0.06 0.044 22 93 23 0.056 13 3 1 0 1 9.198 32637 chr19 46857015 46857015 C T rs917948 PPP5C Synonymous SNV Y44Y 0.066 0.06 0.041 30 78 23 0.077 12 4 1 0 2 11.02 32638 chr19 3739107 3739107 C T rs35628485 TJP3 Nonsynonymous SNV R536W 0.014 0.016 0.003 1 17 6 0.003 1 0 0 0 0 35 32639 chr8 144697041 144697041 A G rs1049832 TSTA3 Synonymous SNV F108F 0.583 0.628 0.537 229 684 241 0.587 158 194 74 42 64 5.259 32640 chr19 46914547 46914547 C G rs2279517 CCDC8 Nonsynonymous SNV K507N 0.043 0.047 0.024 22 51 18 0.056 7 1 0 0 0 Benign 31 32641 chr8 144699601 144699601 G A rs67210953 TSTA3 Nonsynonymous SNV L2F 0.555 0.599 0 219 651 230 0.562 0 177 68 0 60 8.024 32642 chr8 27685675 27685675 C T rs11539582 PBK Synonymous SNV P33P 0.037 0.029 0.034 15 44 11 0.038 10 1 0 0 0 15.1 32643 chr19 46914927 46914927 C T rs75175362 CCDC8 Nonsynonymous SNV D381N 0.042 0.047 0.014 20 49 18 0.051 4 1 0 0 0 Benign 8.472 32644 chr8 144732363 144732363 T C rs4875017 ZNF623 Synonymous SNV N107N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.231 32645 chr8 27737180 27737180 G A rs6983356 SCARA5 Synonymous SNV D419D 0.095 0.096 0.078 36 111 37 0.092 23 4 4 0 0 10.39 32646 chr19 3148839 3148839 - GGAGCA rs562336693 LOC100996351 0.007 0.016 0.007 2 8 6 0.005 2 0 0 0 0 32647 chr8 144732418 144732418 A G rs4874084 ZNF623 Nonsynonymous SNV N126D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.918 32648 chr19 48525507 48525507 G A rs2303690 ELSPBP1 Nonsynonymous SNV E199K 0.574 0.531 0.537 223 674 204 0.572 158 190 53 41 61 4.723 32649 chr8 144775871 144775871 C A rs6987308 ZNF707 Nonsynonymous SNV P60H 0.877 0.878 0.827 335 1030 337 0.859 243 456 147 102 141 0.004 32650 chr19 44377205 44377205 T G rs78264306 ZNF404 Nonsynonymous SNV E384D 0.012 0.003 0.007 3 14 1 0.008 2 0 0 0 0 8.213 32651 chr19 48581033 48581033 G - rs11564598 PLA2G4C P308Qfs*13 0.009 0.016 0 2 11 6 0.005 0 0 0 0 0 32652 chr8 144776109 144776109 A G rs11786757 ZNF707 Synonymous SNV S139S 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 1.172 32653 chr19 4859937 4859937 T C rs8289 PLIN3 Nonsynonymous SNV I56V 0.656 0.656 0.646 261 770 252 0.669 190 252 84 63 85 0.001 32654 chr8 144801243 144801243 C T rs12678428 MAPK15 Synonymous SNV P166P 0.646 0.69 0.548 245 758 265 0.628 161 248 90 46 78 11.28 32655 chr8 144808747 144808747 G A rs11136321 FAM83H Synonymous SNV L962L 0.74 0.781 0.636 280 869 300 0.718 187 324 117 62 100 Benign 1.131 32656 chr8 27925204 27925204 T C rs4732620 NUGGC Nonsynonymous SNV S180G 0.583 0.576 0.578 236 684 221 0.605 170 190 64 56 75 0.002 32657 chr8 144809804 144809804 G A rs13254035 FAM83H Synonymous SNV Y609Y 0.967 0.982 0.932 374 1135 377 0.959 274 550 185 129 179 Benign 0.047 32658 chr8 144811338 144811338 C G rs9969600 FAM83H Nonsynonymous SNV Q201H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.947 32659 chr19 48622427 48622427 A G rs20581 LIG1 Synonymous SNV D734D 0.503 0.505 0.554 194 590 194 0.497 163 155 51 43 53 Benign 6.549 32660 chr8 28217138 28217138 G A rs145503959 ZNF395 Synonymous SNV P148P 0.009 0.013 0 8 10 5 0.021 0 0 0 0 0 13.01 32661 chr8 144874554 144874554 T C rs6991873 SCRIB Synonymous SNV P1450P 0.994 0.984 0.915 387 1167 378 0.992 269 583 189 134 193 0.468 32662 chr19 48697961 48697961 C T rs12973411 ZSWIM9 Synonymous SNV L214L 0.481 0.409 0.384 176 565 157 0.451 113 122 36 20 38 14.43 32663 chr8 28218554 28218562 CCGAGGGCC - rs576883875 ZNF395 G27_S29del 0.009 0.01 0 8 10 4 0.021 0 0 0 0 0 32664 chr19 48715153 48715153 T C rs3745718 CARD8 Synonymous SNV Q426Q 0.528 0.497 0.466 204 620 191 0.523 137 172 43 28 56 0.021 32665 chr8 144885580 144885580 A G rs13281371 SCRIB Synonymous SNV F1192F 0.911 0.901 0.922 353 1069 346 0.905 271 490 156 126 160 0.035 32666 chr19 47569826 47569826 G A rs3810292 ZC3H4 Synonymous SNV T1233T 0.026 0.026 0.01 5 30 10 0.013 3 0 0 0 0 3.659 32667 chr19 48722180 48722180 C T rs10500299 CARD8 Synonymous SNV E367E 0.263 0.26 0.194 115 309 100 0.295 57 40 9 5 19 6.673 32668 chr8 144889172 144889172 A G rs10866915 SCRIB Synonymous SNV T730T 0.91 0.896 0.925 354 1068 344 0.908 272 489 154 125 161 0.026 32669 chr8 144890873 144890873 A T rs10098508 SCRIB Nonsynonymous SNV V674E 1 1 0.949 389 1174 384 0.997 279 587 192 139 194 0.194 32670 chr8 28384712 28384712 A G rs2241802 FZD3 Synonymous SNV L145L 0.627 0.635 0.585 255 736 244 0.654 172 226 78 57 83 0.424 32671 chr8 28998058 28998058 T C rs200010537 KIF13B Nonsynonymous SNV N804S 0.009 0.016 0 7 11 6 0.018 0 0 0 0 0 23.4 32672 chr8 144893084 144893084 G A rs6558394 SCRIB Nonsynonymous SNV P422L 0.611 0.62 0.554 227 717 238 0.582 163 214 70 46 63 24.2 32673 chr19 48737764 48737764 A G rs2288876 CARD8 Nonsynonymous SNV F15S 0.312 0.315 0.296 132 366 121 0.338 87 51 18 15 20 0.029 32674 chr8 144894496 144894496 G A rs4875060 SCRIB Synonymous SNV T282T 0.911 0.896 0.925 354 1069 344 0.908 272 489 154 125 161 4.698 32675 chr8 29197672 29197672 A G rs583034 DUSP4 Synonymous SNV S174S 0.427 0.453 0.425 189 501 174 0.485 125 102 39 29 48 0.19 32676 chr19 44610504 44610504 C G rs7250439 LOC100379224 0.014 0.013 0.01 5 17 5 0.013 3 1 0 0 0 2.585 32677 chr8 144895669 144895669 G A rs56748182 SCRIB Synonymous SNV L158L 0.089 0.102 0.068 35 104 39 0.09 20 7 2 0 2 11.6 32678 chr8 144917880 144917880 G A rs72693365 NRBP2 Synonymous SNV A486A 0.089 0.104 0.071 36 105 40 0.092 21 7 2 0 2 13.83 32679 chr19 48821757 48821757 G A rs16981988 CCDC114 Nonsynonymous SNV R46W 0.052 0.057 0.051 31 61 22 0.079 15 2 1 0 2 Benign 28.2 32680 chr19 3831709 3831709 C T rs2240234 ZFR2 Nonsynonymous SNV V183M 0.19 0.203 0.231 64 223 78 0.164 68 24 6 10 8 6.94 32681 chr8 144940300 144940300 G A rs4977191 EPPK1 Synonymous SNV R2374R 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 13.65 32682 chr8 144940779 144940779 G A rs11781942 EPPK1 Nonsynonymous SNV R2215C 0.156 0.167 0.095 54 183 64 0.138 28 13 5 0 3 13.8 32683 chr8 29961951 29961951 C T rs11557703 LEPROTL1 Synonymous SNV G76G 0.06 0.081 0.054 29 71 31 0.074 16 2 1 1 1 16.54 32684 chr8 144941181 144941181 G C rs7839934 EPPK1 Nonsynonymous SNV L2081V 0.354 0.349 0.381 137 416 134 0.351 112 63 24 20 27 0.002 32685 chr19 49096065 49096065 C T rs2302948 SULT2B1 Synonymous SNV L198L 0.151 0.211 0.163 61 177 81 0.156 48 12 9 6 3 10.23 32686 chr19 44611162 44611162 G T rs13346417 ZNF224 Synonymous SNV T283T 0.015 0.013 0.02 5 18 5 0.013 6 1 0 0 0 9.707 32687 chr8 144941419 144941419 C T rs12681478 EPPK1 Synonymous SNV A2001A 0.35 0.396 0.323 118 411 152 0.303 95 67 34 17 21 13.65 32688 chr8 144942903 144942903 T C rs6558399 EPPK1 Nonsynonymous SNV T1507A 0.772 0.74 0.731 283 906 284 0.726 215 354 105 76 104 0.001 32689 chr19 49106995 49106995 G A rs3745728 FAM83E Nonsynonymous SNV P311L 0.09 0.117 0.092 37 106 45 0.095 27 6 1 4 2 25.1 32690 chr19 44611957 44611957 T C rs3746322 ZNF224 Synonymous SNV S548S 0.09 0.065 0.092 41 106 25 0.105 27 6 2 2 2 7.323 32691 chr19 33333131 33333131 C T rs368549032 SLC7A9 Synonymous SNV T389T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 9.348 32692 chr19 38903330 38903330 G A rs117892748 RASGRP4 Synonymous SNV C365C 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 Benign 12.53 32693 chr1 242121540 242121540 G A rs56335758 BECN2 Nonsynonymous SNV E158K 0.422 0.443 0.418 153 495 170 0.392 123 108 39 24 33 Benign 6.366 32694 chr19 47883126 47883126 C T rs151213663 DHX34 Nonsynonymous SNV R956W 0.024 0.021 0.007 7 28 8 0.018 2 1 0 0 0 26.7 32695 chr1 242121796 242121796 G T rs3851304 BECN2 Nonsynonymous SNV R243M 0.426 0.448 0.418 153 500 172 0.392 123 109 40 24 33 Benign 4.674 32696 chr8 144944161 144944161 C T rs35221054 EPPK1 Synonymous SNV P1087P 0.614 0.578 0.609 229 721 222 0.587 179 220 56 49 70 9.483 32697 chr19 49116359 49116359 T C rs447802 FAM83E Nonsynonymous SNV T91A 0.239 0.247 0.214 89 280 95 0.228 63 33 8 6 7 0.001 32698 chr8 144944176 144944176 T C rs12542653 EPPK1 Synonymous SNV E1082E 0.802 0.727 0.755 299 941 279 0.767 222 380 98 84 118 0.036 32699 chr8 30700565 30700565 C T rs61738844 TEX15 Nonsynonymous SNV S2373N 0.011 0.029 0.02 13 13 11 0.033 6 0 0 0 0 no interpretation for the single variant 9.141 32700 chr19 3752515 3752515 G A rs61735536 APBA3 Synonymous SNV A462A 0.158 0.133 0.078 61 185 51 0.156 23 16 3 0 4 12.72 32701 chr8 144944638 144944638 G A rs56118826 EPPK1 Synonymous SNV G928G 0.119 0.115 0.078 41 140 44 0.105 23 9 3 0 2 6.953 32702 chr19 49116438 49116438 A G rs376524 FAM83E Synonymous SNV V64V 0.175 0.19 0.163 58 206 73 0.149 48 21 3 5 5 3.04 32703 chr1 24393563 24393563 C T rs16829071 MYOM3 Nonsynonymous SNV R1124Q 0.257 0.203 0.235 84 302 78 0.215 69 39 6 11 9 24.9 32704 chr8 30704244 30704244 G A TEX15 Nonsynonymous SNV L1147F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.6 32705 chr8 144945191 144945191 T C rs12543389 EPPK1 Nonsynonymous SNV Y744C 0.123 0.115 0.085 42 144 44 0.108 25 9 3 0 2 24.1 32706 chr19 45596635 45596635 A G rs75282681 PPP1R37 Nonsynonymous SNV I18V 0.149 0.133 0.184 52 175 51 0.133 54 15 2 6 5 0.002 32707 chr1 24394811 24394811 A G rs12145360 MYOM3 Nonsynonymous SNV I1066T 0.248 0.188 0.218 81 291 72 0.208 64 39 4 8 8 19.13 32708 chr19 49132634 49132634 G A rs3745733 SPHK2 Synonymous SNV L487L 0.086 0.122 0.095 34 101 47 0.087 28 6 2 3 2 9.496 32709 chr8 144945792 144945792 T C rs13255110 EPPK1 Nonsynonymous SNV K544E 0.803 0.727 0.748 297 943 279 0.762 220 383 98 82 117 0.001 32710 chr19 44661974 44661974 G A rs149435176 ZNF234 Nonsynonymous SNV G602E 0.008 0.01 0 0 9 4 0 0 1 0 0 0 25.5 32711 chr19 38976331 38976331 G A rs146504767 RYR1 Nonsynonymous SNV R1679H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 32712 chr19 45655647 45655647 G T rs117934605 NKPD1 Nonsynonymous SNV A683E 0.141 0.112 0.16 50 165 43 0.128 47 11 2 5 5 9.134 32713 chr1 24409165 24409165 C T rs4320728 MYOM3 Synonymous SNV E670E 0.245 0.188 0.211 78 288 72 0.2 62 40 5 7 7 14.85 32714 chr8 30999280 30999280 G T rs1801195 WRN Nonsynonymous SNV L1074F 0.398 0.414 0.418 169 467 159 0.433 123 88 39 22 33 Benign 0.076 32715 chr8 144945943 144945943 C G rs189814391 EPPK1 Synonymous SNV T493T 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 1.549 32716 chr19 44679149 44679149 T A rs2232803 ZNF226 Nonsynonymous SNV V83E 0.008 0.01 0 0 9 4 0 0 1 0 0 0 14.46 32717 chr19 38990593 38990593 C T rs12973632 RYR1 Synonymous SNV H2420H 0.026 0.013 0.027 6 31 5 0.015 8 0 0 1 0 Benign 16.15 32718 chr8 144946252 144946252 C T rs11136330 EPPK1 Synonymous SNV L390L 0.784 0.708 0.731 295 920 272 0.756 215 370 95 81 115 2.932 32719 chr19 44680488 44680488 C T rs116865890 ZNF226 Nonsynonymous SNV T358M 0.008 0.01 0 0 9 4 0 0 1 0 0 0 23.7 32720 chr8 144946345 144946345 G A rs34753358 EPPK1 Synonymous SNV A359A 0.654 0.596 0.609 244 768 229 0.626 179 257 59 54 80 10.05 32721 chr8 144946818 144946818 C T rs13260439 EPPK1 Nonsynonymous SNV D202N 0.666 0.599 0.629 252 782 230 0.646 185 264 59 55 86 20.3 32722 chr1 24416133 24416133 C T rs4276859 MYOM3 Synonymous SNV P503P 0.239 0.177 0.184 71 280 68 0.182 54 40 4 6 2 12.61 32723 chr19 44732658 44732658 C G rs922063 ZNF227 Synonymous SNV L40L 0.026 0.023 0.031 6 30 9 0.015 9 2 0 0 0 11.63 32724 chr19 48219893 48219893 C T rs11550017 EHD2 Synonymous SNV G8G 0.129 0.138 0.109 35 152 53 0.09 32 16 5 2 0 13.93 32725 chr19 37854235 37854235 G T rs3745765 ZNF875 Nonsynonymous SNV S453I 0.187 0.182 0.201 68 219 70 0.174 59 23 3 8 6 3.106 32726 chr8 144995964 144995964 G A rs35139934 PLEC Synonymous SNV G2661G 0.135 0.112 0.119 45 158 43 0.115 35 17 3 2 0 Benign/Likely benign 1.693 32727 chr19 44740716 44740716 G A rs28671410 ZNF227 Synonymous SNV T632T 0.008 0.01 0.003 1 9 4 0.003 1 1 0 0 0 11.7 32728 chr8 145057868 145057868 A G rs11544989 PARP10 Nonsynonymous SNV V642A 0.611 0.641 0.588 246 717 246 0.631 173 225 83 59 77 0.001 32729 chr8 145058986 145058986 A G rs11136343 PARP10 Nonsynonymous SNV L407P 0.431 0.456 0.446 171 506 175 0.438 131 115 46 28 36 0.002 32730 chr8 145059425 145059425 T C rs11136344 PARP10 Nonsynonymous SNV I261V 0.48 0.51 0.473 199 563 196 0.51 139 147 54 34 48 0.001 32731 chr19 39191323 39191323 C T rs77307137 ACTN4 Synonymous SNV L82L 0.023 0.023 0.048 9 27 9 0.023 14 0 0 1 0 Benign 11 32732 chr8 145059606 145059606 G A rs781891828 PARP10 Nonsynonymous SNV T228I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 32733 chr1 244641216 244641216 C A rs11586356 CATSPERE Nonsynonymous SNV T66K 0.05 0.036 0.034 18 59 14 0.046 10 1 0 0 1 0.001 32734 chr8 36788479 36788479 A G rs16885577 KCNU1 Nonsynonymous SNV N916S 0.221 0.221 0.241 85 260 85 0.218 71 27 6 10 7 25.2 32735 chr8 145060112 145060112 G A rs11136345 PARP10 Synonymous SNV H83H 0.475 0.51 0.473 199 558 196 0.51 139 143 54 34 48 0.066 32736 chr8 145066886 145066886 A G rs13277282 GRINA Synonymous SNV L331L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.577 32737 chr19 38189449 38189449 C G rs150135894 ZNF607 Nonsynonymous SNV S527T 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 0.097 32738 chr19 49232226 49232226 G A rs2287922 RASIP1 Nonsynonymous SNV R601C 0.441 0.464 0.381 202 518 178 0.518 112 121 49 33 54 32 32739 chr1 245849191 245849191 C T rs148590058 KIF26B Nonsynonymous SNV A969V 0.009 0.023 0.014 1 10 9 0.003 4 0 0 0 0 Benign 15.52 32740 chr19 45997899 45997899 G C rs139232850 RTN2 Synonymous SNV G148G 0.009 0.005 0.037 6 10 2 0.015 11 0 0 0 0 Benign 4.878 32741 chr8 145106939 145106940 CC - rs60949781 OPLAH 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 32742 chr8 145107795 145107795 G A rs11136253 OPLAH Synonymous SNV A1009A 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 8.569 32743 chr19 4454083 4454083 C T rs1127888 UBXN6 Nonsynonymous SNV A31T 0.211 0.284 0.122 114 248 109 0.292 36 50 23 7 23 11.91 32744 chr8 145111979 145111979 G A rs72695427 OPLAH Synonymous SNV D526D 0.026 0.047 0.041 22 31 18 0.056 12 0 0 0 0 7.107 32745 chr8 145150832 145150832 A G rs7820984 CYC1 Nonsynonymous SNV M76V 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.001 32746 chr19 39398138 39398138 C T rs371119134 NFKBIB Nonsynonymous SNV R184C 0.003 0 0 4 4 0 0.01 0 0 0 0 0 27 32747 chr8 145158503 145158503 G T rs11136254 SHARPIN Synonymous SNV R52R 0.867 0.88 0.813 315 1018 338 0.808 239 447 154 108 128 Benign 12.32 32748 chr8 145158607 145158607 G A rs34173062 SHARPIN Nonsynonymous SNV S17F 0.123 0.135 0.109 46 144 52 0.118 32 22 5 4 2 15.53 32749 chr19 46264963 46264963 C T rs12982642 BHMG1 Synonymous SNV D424D 0.147 0.161 0.109 42 172 62 0.108 32 19 6 1 2 3.505 32750 chr8 145160646 145160646 T C rs11136256 MAF1 Synonymous SNV T20T 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 Benign 0.017 32751 chr8 145161823 145161823 G A rs11546144 MAF1 Nonsynonymous SNV G236R 0.871 0.893 0.85 320 1022 343 0.821 250 447 153 115 129 21.7 32752 chr19 48564927 48564927 C T rs10469295 PLA2G4C-AS1 0.683 0.703 0 256 802 270 0.656 0 349 114 0 109 7.969 32753 chr19 48571072 48571072 T G rs11564620 PLA2G4C Nonsynonymous SNV T370P 0.095 0.117 0.075 35 112 45 0.09 22 4 2 1 1 18.19 32754 chr8 145163414 145163414 C G rs4977196 WDR97 Nonsynonymous SNV R149G 0.847 0.867 0.871 311 994 333 0.797 256 444 152 116 128 4.198 32755 chr8 145163647 145163647 T C rs4977195 WDR97 Synonymous SNV R226R 0.873 0.893 0.895 320 1025 343 0.821 263 447 153 118 129 0.013 32756 chr8 38835666 38835666 T C rs4733961 HTRA4 Synonymous SNV N322N 0.752 0.763 0.772 295 883 293 0.756 227 329 113 89 105 1.946 32757 chr19 44934066 44934066 T C rs567948020 ZNF229 Nonsynonymous SNV E291G 0.006 0.005 0 0 7 2 0 0 1 0 0 0 23 32758 chr1 247151035 247151035 T G rs2642993 ZNF695 Nonsynonymous SNV N261T 0.023 0.021 0.034 11 27 8 0.028 10 0 1 0 0 0.028 32759 chr8 145164617 145164617 G T rs13281660 WDR97 Synonymous SNV A460A 0.876 0.896 0.884 327 1028 344 0.838 260 450 154 117 134 7.697 32760 chr8 38869207 38869207 G A rs61753672 ADAM9 Nonsynonymous SNV E76K 0.006 0.016 0.01 11 7 6 0.028 3 0 0 0 0 Benign/Likely benign 15.24 32761 chr8 145164847 145164847 A G rs13250446 WDR97 Nonsynonymous SNV E537G 0.875 0.893 0.895 324 1027 343 0.831 263 449 153 118 132 0.056 32762 chr19 44934067 44934067 C T rs536824292 ZNF229 Nonsynonymous SNV E291K 0.006 0.005 0 0 7 2 0 0 1 0 0 0 22.2 32763 chr8 38965271 38965271 C T rs59118660 ADAM32 Synonymous SNV P26P 0.475 0.438 0.432 198 558 168 0.508 127 134 39 25 46 3.752 32764 chr1 247201612 247201612 A G rs55978076 ZNF670 Synonymous SNV C102C 0.01 0.016 0.027 3 12 6 0.008 8 0 1 0 0 0.153 32765 chr8 145168611 145168611 A G rs7463214 WDR97 Nonsynonymous SNV T1079A 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.001 32766 chr1 247242032 247242032 C T rs3806269 ZNF670-ZNF695 0.129 0.146 0.136 43 152 56 0.11 40 14 8 2 0 6.217 32767 chr1 247267274 247267274 C A rs4925692 ZNF669 Nonsynonymous SNV E76D 0.274 0.26 0.259 113 322 100 0.29 76 51 16 11 14 20.4 32768 chr8 145170440 145170440 A C rs12543080 WDR97 Nonsynonymous SNV K1425T 0.863 0.883 0.905 323 1013 339 0.828 266 456 158 122 138 0.002 32769 chr19 46289509 46289509 G A rs11545326 DMWD Synonymous SNV G415G 0.086 0.117 0.119 40 101 45 0.103 35 6 2 0 2 0.111 32770 chr8 39091526 39091526 T C rs4515515 ADAM32 Synonymous SNV T482T 0.196 0.177 0.214 72 230 68 0.185 63 30 9 2 7 0.114 32771 chr19 48640807 48640807 C T rs4987068 LIG1 Nonsynonymous SNV R341H 0.014 0.023 0.027 10 17 9 0.026 8 0 0 0 0 23.5 32772 chr1 247275218 247275218 C G rs141557009 C1orf229 Synonymous SNV A103A 0.074 0.07 0.068 30 87 27 0.077 20 3 1 3 1 12.84 32773 chr19 46387344 46387344 G A rs11550348 IRF2BP1 Synonymous SNV F563F 0.135 0.159 0.122 52 159 61 0.133 36 14 4 3 4 7.531 32774 chr1 247486528 247486528 C T rs61747077 ZNF496 Synonymous SNV L193L 0.059 0.052 0.061 19 69 20 0.049 18 4 0 2 0 13.28 32775 chr8 145170704 145170704 A T rs13278106 WDR97 Nonsynonymous SNV E1513V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 32776 chr19 46387503 46387503 T C rs3745926 IRF2BP1 Synonymous SNV L510L 0.21 0.245 0.218 89 246 94 0.228 64 33 10 6 9 0.014 32777 chr8 39862881 39862881 C T rs10109853 IDO2 Nonsynonymous SNV R248W 0.523 0.516 0.497 192 614 198 0.492 146 165 55 35 38 35 32778 chr19 46394268 46394268 G A rs150220406 MYPOP Synonymous SNV N271N 0.02 0.029 0.02 17 23 11 0.044 6 1 0 0 2 10.28 32779 chr8 145171003 145171003 G C rs4977193 WDR97 Nonsynonymous SNV R1559P 0.972 0.951 0.905 382 1141 365 0.979 266 566 182 132 190 1.049 32780 chr8 145223288 145223288 C T rs34819224 MROH1 Nonsynonymous SNV A38V 1 0.997 0.98 389 1174 383 0.997 288 587 191 142 194 7.471 32781 chr19 4499597 4499597 A G rs180870155 HDGFL2 Nonsynonymous SNV N562S 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 0.576 32782 chr8 145557497 145557497 A C rs7013127 SCRT1 Nonsynonymous SNV S133A 0.825 0.828 0.789 324 968 318 0.831 232 456 150 111 144 0.001 32783 chr8 41166638 41166640 GCT - rs3055861 SFRP1 A14del 0.286 0.273 0.303 107 336 105 0.274 89 52 9 14 15 32784 chr8 145578296 145578296 A G rs2272663 TMEM249 Synonymous SNV F44F 0.477 0.484 0.361 184 560 186 0.472 106 124 48 24 44 0.02 32785 chr19 49507542 49507542 A G rs11558800 RUVBL2 Synonymous SNV Q10Q 0.083 0.078 0.068 24 97 30 0.062 20 2 1 0 1 1.531 32786 chr19 46627294 46627294 G A rs147128538 IGFL3 Nonsynonymous SNV R67C 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 24.2 32787 chr8 145580535 145580535 C G rs61746974 FBXL6 Nonsynonymous SNV G271A 0.046 0.049 0.034 19 54 19 0.049 10 0 1 0 0 17.12 32788 chr19 38746968 38746968 C T rs751696283 PPP1R14A Synonymous SNV Q4Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.01 32789 chr8 41553928 41553928 C G rs504574 ANK1 Synonymous SNV L971L 0.477 0.466 0.456 176 560 179 0.451 134 145 42 34 37 Benign 10.54 32790 chr19 49507578 49507578 T C rs11558795 RUVBL2 Synonymous SNV A22A 0.083 0.078 0.071 24 98 30 0.062 21 2 1 0 1 0.054 32791 chr19 49573438 49573438 A G rs1017219 KCNA7 Nonsynonymous SNV M418T 0.346 0.326 0.35 103 406 125 0.264 103 71 22 17 15 1.291 32792 chr8 145603114 145603114 A C rs6599528 ADCK5 Nonsynonymous SNV R17S 0.431 0.458 0.405 176 506 176 0.451 119 105 43 25 41 0.157 32793 chr8 41559609 41559609 G A rs2304880 ANK1 Synonymous SNV T783T 0.284 0.302 0.323 118 334 116 0.303 95 46 17 14 17 Benign 10.54 32794 chr8 41563685 41563685 G A rs1137177 ANK1 Synonymous SNV G691G 0.283 0.297 0.32 118 332 114 0.303 94 45 17 13 17 Benign 8.559 32795 chr19 35719076 35719076 C T rs75397987 FAM187B Nonsynonymous SNV E170K 0.006 0.01 0.024 4 7 4 0.01 7 0 0 0 0 14.77 32796 chr19 49574125 49574125 G C rs1611775 KCNA7 Nonsynonymous SNV P189R 0.345 0.326 0.347 103 405 125 0.264 102 71 22 18 15 8.023 32797 chr8 145617910 145617910 A G rs7843675 ADCK5 Synonymous SNV K506K 0.051 0.057 0.041 21 60 22 0.054 12 1 1 0 0 9.533 32798 chr19 48946325 48946325 T C rs111420822 GRIN2D Synonymous SNV L1048L 0.534 0.505 0.282 219 627 194 0.562 83 297 94 41 105 0.003 32799 chr8 145626171 145626171 G T rs782465997 CPSF1 Synonymous SNV R194R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.193 32800 chr8 145639726 145639726 T C rs2272662 SLC39A4 Nonsynonymous SNV T332A 0.574 0.586 0.582 221 674 225 0.567 171 191 69 52 62 Benign 0.285 32801 chr19 46812451 46812451 C T rs61750957 HIF3A Nonsynonymous SNV A133V 0.098 0.057 0.044 31 115 22 0.079 13 6 1 0 2 7.799 32802 chr19 48954421 48954421 G A rs2302951 GRWD1 Nonsynonymous SNV R319Q 0.142 0.128 0.177 53 167 49 0.136 52 8 6 6 4 23.1 32803 chr8 145640411 145640411 A G rs2977838 SLC39A4 Nonsynonymous SNV W226R 0.986 0.99 0.99 377 1157 380 0.967 291 570 188 144 182 Benign 0.028 32804 chr19 49657711 49657713 CAT - rs66501117 HRC D261del 0.463 0.495 0.344 168 544 190 0.431 101 114 42 25 39 32805 chr8 145641328 145641328 C T rs17855765 SLC39A4 Nonsynonymous SNV A89T 0.53 0.523 0.51 198 622 201 0.508 150 167 57 43 55 Benign 1.618 32806 chr19 49657889 49657889 - TCC rs147238387 HRC E204_A205insE 0.389 0.435 0.218 150 457 167 0.385 64 84 34 8 31 32807 chr19 49658209 49658209 A C rs3745297 HRC Nonsynonymous SNV S96A 0.463 0.508 0.439 171 544 195 0.438 129 119 46 23 40 6.429 32808 chr8 145641564 145641564 T G rs2280839 SLC39A4 Nonsynonymous SNV E10A 0.547 0.536 0.537 204 642 206 0.523 158 172 59 43 58 5.683 32809 chr19 46996928 46996928 C A rs4803966 PNMA8B Nonsynonymous SNV A599S 0.102 0.154 0.092 49 120 59 0.126 27 6 5 1 2 19.63 32810 chr8 52232487 52232487 G T rs1052704 PXDNL Nonsynonymous SNV D1452E 0.278 0.294 0.272 119 326 113 0.305 80 45 16 10 13 1.68 32811 chr19 49106935 49106935 G A rs138269435 FAM83E Nonsynonymous SNV P331L 0.035 0.018 0.044 9 41 7 0.023 13 2 1 0 0 18.74 32812 chr19 49658367 49658367 C T rs3745298 HRC Nonsynonymous SNV S43N 0.498 0.552 0.466 176 585 212 0.451 137 149 57 28 39 0.002 32813 chr19 46998236 46998236 C T rs4803967 PNMA8B Nonsynonymous SNV G163S 0.102 0.156 0.102 49 120 60 0.126 30 6 5 1 2 25.6 32814 chr8 145642002 145642002 C T rs2280838 SLC39A4 Nonsynonymous SNV A58T 0.562 0.57 0.578 213 660 219 0.546 170 182 66 46 57 Benign 7.97 32815 chr19 4511341 4511341 T C rs74202324 PLIN4 Synonymous SNV K877K 0.053 0.042 0.027 20 62 16 0.051 8 0 0 0 0 0.041 32816 chr8 52233408 52233408 C T rs7827446 PXDNL Nonsynonymous SNV R1399K 0.277 0.294 0.276 119 325 113 0.305 81 46 16 10 13 3.089 32817 chr19 49658390 49658390 T C rs3745299 HRC Synonymous SNV L35L 0.474 0.503 0.442 167 556 193 0.428 130 122 48 23 41 1.353 32818 chr19 47124714 47124714 T G rs2229129 PTGIR Synonymous SNV S328S 0.449 0.43 0.449 165 527 165 0.423 132 108 37 32 37 0.026 32819 chr8 145661451 145661451 G A rs751594566 TONSL Nonsynonymous SNV R789W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.21 32820 chr19 39294406 39294406 G A rs139142587 LGALS4 Synonymous SNV C172C 0.009 0.005 0.01 7 10 2 0.018 3 0 0 0 0 0.212 32821 chr8 145663689 145663689 A C rs1011211 TONSL-AS1 0.536 0.529 0.139 209 629 203 0.536 41 185 61 18 61 2.7 32822 chr8 145665407 145665407 C T rs2229315 TONSL Nonsynonymous SNV G493S 0.569 0.555 0.408 213 668 213 0.546 120 185 61 39 61 13.47 32823 chr19 49869051 49869051 T G rs2303759 DKKL1 Nonsynonymous SNV M34R 0.348 0.333 0.323 142 409 128 0.364 95 71 22 14 26 23.1 32824 chr19 4511461 4511461 G A rs368677973 PLIN4 Synonymous SNV T837T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.876 32825 chr8 145665516 145665516 T C rs2306383 TONSL Synonymous SNV L456L 1 0.997 0.98 389 1174 383 0.997 288 587 191 143 194 0.031 32826 chr19 49878115 49878115 G A rs1054770 DKKL1 Nonsynonymous SNV G156S 0.348 0.333 0.323 143 409 128 0.367 95 72 22 14 26 10.24 32827 chr8 145665761 145665761 G A rs2229313 TONSL Synonymous SNV A421A 0.64 0.604 0.626 233 751 232 0.597 184 242 72 60 73 5.406 32828 chr19 47291174 47291174 G C rs3027956 SLC1A5 Nonsynonymous SNV P17A 0.227 0.195 0.214 89 266 75 0.228 63 37 7 6 10 16.95 32829 chr8 53071461 53071461 G A rs2278152 ST18 Synonymous SNV A601A 0.066 0.06 0.071 28 77 23 0.072 21 5 1 0 2 9.139 32830 chr8 145689915 145689915 G A rs2721167 CYHR1 Synonymous SNV H58H 0.999 1 0.997 388 1173 384 0.995 293 586 192 146 193 6.215 32831 chr19 49878196 49878196 G A rs2288481 DKKL1 Nonsynonymous SNV E183K 0.313 0.307 0.289 127 368 118 0.326 85 59 18 12 19 12.99 32832 chr8 145692385 145692385 C T rs2250891 KIFC2 Synonymous SNV G74G 0.999 1 0.997 388 1173 384 0.995 293 586 192 146 193 13.14 32833 chr8 145693720 145693720 A G rs2250657 KIFC2 Synonymous SNV A273A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.146 32834 chr19 39402455 39402455 C G rs76973734 CCER2 Nonsynonymous SNV E33D 0.169 0.195 0.136 70 198 75 0.179 40 19 7 6 5 23.4 32835 chr8 53853160 53853160 T C rs75387626 NPBWR1 Synonymous SNV H231H 0.044 0.06 0.041 20 52 23 0.051 12 2 1 2 0 0.796 32836 chr19 39416887 39416887 C T rs11544093 SARS2 Synonymous SNV E107E 0.143 0.164 0.116 51 168 63 0.131 34 13 5 5 1 Benign 8.947 32837 chr8 54142157 54142157 T C rs702764 OPRK1 Synonymous SNV A281A 0.139 0.143 0.197 52 163 55 0.133 58 12 4 5 3 0.43 32838 chr8 145729727 145729727 C A rs1063739 GPT Nonsynonymous SNV H14N 0.49 0.458 0.429 194 575 176 0.497 126 128 39 27 44 0.009 32839 chr8 54147470 54147470 G A rs7815824 OPRK1 Synonymous SNV S153S 0.036 0.034 0.044 9 42 13 0.023 13 0 2 0 0 10.44 32840 chr8 55371789 55371789 C T rs200011294 SOX17 Nonsynonymous SNV A160V 0.005 0.021 0.014 3 6 8 0.008 4 0 0 0 0 Benign 14.59 32841 chr8 145737636 145737636 A G rs4925828 RECQL4 Synonymous SNV L1043L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.215 32842 chr19 49225154 49225154 G A rs376250544 RASIP1 Synonymous SNV A883A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.246 32843 chr19 49949652 49949652 G A rs7462 PIH1D1 Nonsynonymous SNV P287L 0.343 0.333 0.299 121 403 128 0.31 88 64 22 13 20 21.1 32844 chr8 145737816 145737816 C T rs4251691 RECQL4 Nonsynonymous SNV R1005Q 0.487 0.443 0.412 189 572 170 0.485 121 124 35 26 42 Benign 19.04 32845 chr19 45021251 45021251 C T rs142602331 CEACAM20 Synonymous SNV S355S 0.016 0.013 0.01 10 19 5 0.026 3 0 1 0 0 0.277 32846 chr19 47770032 47770032 C T rs60383222 CCDC9 Synonymous SNV A295A 0.196 0.174 0.156 89 230 67 0.228 46 17 5 2 12 16.98 32847 chr8 145738768 145738768 G - rs11342077 RECQL4 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 32848 chr8 55539395 55539395 A T rs2293869 RP1 Nonsynonymous SNV N985Y 0.428 0.44 0.442 157 503 169 0.403 130 114 45 30 25 Benign/Likely benign 21.8 32849 chr1 248023966 248023966 C T rs3737277 TRIM58 Synonymous SNV D156D 0.274 0.271 0.296 113 322 104 0.29 87 42 17 13 9 6.477 32850 chr8 145741702 145741702 C G rs4244612 RECQL4 Nonsynonymous SNV E267D 0.417 0.398 0.33 155 489 153 0.397 97 96 30 15 29 Benign 0.073 32851 chr19 39591387 39591387 T C ACP7 Nonsynonymous SNV W193R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 27.4 32852 chr19 45028112 45028112 T C rs35443082 CEACAM20 Nonsynonymous SNV I127V 0.065 0.07 0.075 30 76 27 0.077 22 2 2 2 1 0.152 32853 chr8 145741765 145741765 G A rs4244613 RECQL4 Synonymous SNV S246S 0.422 0.393 0.367 168 495 151 0.431 108 93 31 18 35 Benign 0.684 32854 chr19 45033485 45033485 A G rs62116895 CEACAM20 Synonymous SNV L16L 0.089 0.107 0.102 42 105 41 0.108 30 4 3 4 2 14.42 32855 chr8 145742514 145742514 A G rs2721190 RECQL4 Nonsynonymous SNV S92P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.01 32856 chr8 145742879 145742879 T C rs2306386 RECQL4 Synonymous SNV E44E 0.526 0.497 0.371 220 617 191 0.564 109 163 51 33 59 Benign 0.07 32857 chr19 40541006 40541006 C T rs755019049 ZNF780B Nonsynonymous SNV C587Y 0.003 0 0 5 4 0 0.013 0 0 0 0 0 26.1 32858 chr19 4512748 4512748 T C rs112063407 PLIN4 Synonymous SNV T408T 0.213 0.24 0.245 88 250 92 0.226 72 58 22 14 18 0.013 32859 chr8 145745182 145745182 T C rs2721172 LRRC14 Synonymous SNV L25L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.537 32860 chr19 40711851 40711851 - GAGAGCCTCTGCTGC MAP3K10 A408delinsGEPLLP 0.218 0.211 0 87 256 81 0.223 0 0 0 0 0 32861 chr19 40711856 40711858 ACA - MAP3K10 Q410del 0.218 0.211 0 87 256 81 0.223 0 0 0 0 0 32862 chr8 145747920 145747920 T G rs13277542 LRRC24 Nonsynonymous SNV E494A 0.52 0.49 0.49 209 610 188 0.536 144 149 41 37 53 0.003 32863 chr19 40711861 40711861 A G MAP3K10 Nonsynonymous SNV E411G 0.174 0.177 0 66 204 68 0.169 0 0 0 0 0 31 32864 chr8 55542540 55542540 G A rs61739567 RP1 Nonsynonymous SNV C2033Y 0.428 0.44 0.435 158 502 169 0.405 128 113 45 30 25 Benign/Likely benign 0.001 32865 chr19 49442811 49442811 C A DHDH Nonsynonymous SNV L158I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.403 32866 chr19 40711862 40711862 - ACC MAP3K10 E411_Q412insT 0.218 0.211 0 87 256 81 0.223 0 0 0 0 0 32867 chr19 40711868 40711868 - GTGTGTCTGG MAP3K10 Frameshift insertion F414Vfs*20 0.218 0.211 0 87 256 81 0.223 0 0 0 0 0 32868 chr19 40711871 40711871 - ACCCTGACGT MAP3K10 Frameshift insertion Q415Tfs*19 0.217 0.211 0 87 255 81 0.223 0 0 0 0 0 32869 chr8 145756170 145756170 G A rs873884 ARHGAP39 Synonymous SNV D991D 0.589 0.586 0.619 208 692 225 0.533 182 195 65 61 48 7.749 32870 chr19 40711873 40711873 - AGTGGGGCCC MAP3K10 Frameshift insertion E416Vfs*18 0.216 0.203 0 87 253 78 0.223 0 0 0 0 0 32871 chr19 40711876 40711876 A - MAP3K10 E416Gfs*30 0.213 0.201 0 84 250 77 0.215 0 0 0 0 0 32872 chr19 40711879 40711879 - AGTC MAP3K10 Frameshift insertion Q418Vfs*14 0.21 0.201 0 80 246 77 0.205 0 0 0 0 0 32873 chr19 40711883 40711883 - ATGA MAP3K10 Frameshift insertion L419Mfs*13 0.2 0.198 0 76 235 76 0.195 0 0 0 0 0 32874 chr19 40711885 40711885 - CGAGGTGACC MAP3K10 Frameshift insertion R420Efs*14 0.193 0.185 0 74 227 71 0.19 0 0 0 0 0 32875 chr19 40711890 40711890 - AG MAP3K10 Frameshift insertion R421Qfs*26 0.135 0.115 0 48 159 44 0.123 0 0 0 0 0 32876 chr8 145979138 145979138 C T rs35571769 ZNF251 Synonymous SNV Q69Q 0.045 0.065 0.065 13 53 25 0.033 19 2 0 1 0 11.84 32877 chr19 40151145 40151145 C A rs186797209 LGALS16 Nonsynonymous SNV N138K 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 2.411 32878 chr19 40719537 40719537 C A rs200389834 MAP3K10 Nonsynonymous SNV P651T 0.009 0.003 0.003 4 11 1 0.01 1 0 0 0 0 11.64 32879 chr8 146033347 146033347 T C rs2976653 ZNF517 Nonsynonymous SNV V342A 0.999 0.995 0.997 388 1173 382 0.995 293 586 190 146 193 0.003 32880 chr19 45138721 45138721 G A rs766332836 IGSF23 Nonsynonymous SNV G189E 0.007 0.005 0 0 8 2 0 0 1 0 0 0 13.42 32881 chr8 56708582 56708582 A G rs61753686 TGS1 Synonymous SNV L378L 0.037 0.036 0.02 21 44 14 0.054 6 3 0 0 1 5.967 32882 chr19 49967981 49967981 T G rs11558188 ALDH16A1 Synonymous SNV V459V 0.364 0.375 0.293 137 427 144 0.351 86 74 27 14 26 8.901 32883 chr1 248084434 248084434 G A rs11204563 OR2T8 Nonsynonymous SNV G39S 0.726 0.75 0.724 286 852 288 0.733 213 308 105 80 109 11.57 32884 chr19 49969085 49969085 C T rs10853810 ALDH16A1 Synonymous SNV N502N 0.366 0.375 0.306 137 430 144 0.351 90 77 27 14 26 13 32885 chr19 40732460 40732460 C T rs200091528 CNTD2 Nonsynonymous SNV S30N 0.009 0.003 0.003 4 11 1 0.01 1 0 0 0 0 21.1 32886 chr8 146035358 146035358 A G rs2979082 LOC100130027 0.435 0.419 0.35 167 511 161 0.428 103 99 33 31 34 0.546 32887 chr8 59409337 59409337 T G rs760969537 CYP7A1 Nonsynonymous SNV E245A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 10.41 32888 chr19 50099897 50099897 C G rs200746181 PRR12 Nonsynonymous SNV P769A 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 14.62 32889 chr8 146067054 146067054 G A rs1735169 ZNF7 Nonsynonymous SNV G92R 0.394 0.378 0.408 150 463 145 0.385 120 81 28 28 26 0.12 32890 chr19 49611319 49611319 C T rs1058882 SNRNP70 Synonymous SNV G302G 0.308 0.294 0.279 145 362 113 0.372 82 55 17 9 30 12.09 32891 chr8 59508134 59508134 T C rs2228505 NSMAF Nonsynonymous SNV Y657C 0.012 0.01 0.003 8 14 4 0.021 1 0 0 0 0 14.99 32892 chr19 47935572 47935572 G A rs7259674 SLC8A2 Synonymous SNV H747H 0.096 0.109 0.156 31 113 42 0.079 46 5 4 4 0 9.937 32893 chr8 146068322 146068322 C T rs9004 ZNF7 Synonymous SNV Y514Y 0.344 0.331 0.344 135 404 127 0.346 101 58 23 22 21 5.316 32894 chr1 248112627 248112627 T C rs4925787 OR2L8 Synonymous SNV C156C 0.578 0.63 0.551 234 678 242 0.6 162 178 63 41 61 0.726 32895 chr19 48042976 48042976 C T rs12972658 ZNF541 Nonsynonymous SNV G928R 0.117 0.099 0.085 42 137 38 0.108 25 9 2 2 4 23.2 32896 chr19 50154904 50154904 A C rs7251334 SCAF1 Nonsynonymous SNV T420P 0.947 0.924 0.83 370 1112 355 0.949 244 553 177 120 182 0.105 32897 chr8 146076708 146076708 C T rs1209879 COMMD5 Nonsynonymous SNV A6T 0.378 0.359 0.354 141 444 138 0.362 104 74 28 22 24 8.168 32898 chr8 59739438 59739438 A C rs56215946 TOX Synonymous SNV A316A 0.129 0.13 0.078 39 152 50 0.1 23 10 4 2 2 7.547 32899 chr19 45206933 45206933 G A rs183860695 CEACAM16 Nonsynonymous SNV E118K 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Benign/Likely benign 27.3 32900 chr19 48047821 48047821 C T rs3826836 ZNF541 Synonymous SNV A655A 0.117 0.099 0.122 42 137 38 0.108 36 9 2 2 4 9.346 32901 chr8 146115367 146115367 A G rs2735906 ZNF250 Synonymous SNV G40G 0.784 0.773 0.793 284 921 297 0.728 233 359 119 92 101 8.292 32902 chr8 61134897 61134898 AG - rs141606093 CA8 L253Gfs*55 0.276 0.247 0 114 324 95 0.292 0 47 16 0 16 32903 chr19 50169220 50169220 G T rs2060263 BCL2L12 Nonsynonymous SNV G47V 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 7.891 32904 chr8 61693942 61693942 - AAAGCA rs377139749 CHD7 K686_T687insAK 0.01 0.005 0.014 5 12 2 0.013 4 0 0 0 0 32905 chr8 146156247 146156247 C A rs3735789 ZNF16 Synonymous SNV S642S 0.313 0.31 0.306 103 367 119 0.264 90 55 23 15 13 13.23 32906 chr19 49657736 49657736 A G rs141204104 HRC Synonymous SNV D253D 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 1.438 32907 chr19 4524002 4524002 G A rs186412345 PLIN5 Synonymous SNV A310A 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 7.604 32908 chr8 63659635 63659635 G A rs4739003 NKAIN3 Nonsynonymous SNV V140I 0.162 0.167 0.184 67 190 64 0.172 54 24 10 4 8 16.75 32909 chr19 40319117 40319117 G A rs779874553 DYRK1B Synonymous SNV V209V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.532 32910 chr8 146157339 146157339 T C rs3735787 ZNF16 Synonymous SNV S278S 0.303 0.292 0.299 103 356 112 0.264 88 51 20 15 15 0.054 32911 chr19 501743 501743 - CTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC MADCAM1 S261_P262insQEPPDTTSQEPPDTTS 0.563 0.497 0.02 208 661 191 0.533 6 276 78 3 77 32912 chr19 501900 501900 C A rs3745925 MADCAM1 Nonsynonymous SNV P300H 0.282 0.24 0.099 88 331 92 0.226 29 55 16 5 13 14.09 32913 chr19 40321404 40321404 A G rs34587974 DYRK1B Nonsynonymous SNV L28P 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 28.2 32914 chr8 146171437 146171437 A G rs3735785 ZNF16 Synonymous SNV D52D 0.303 0.292 0.303 103 356 112 0.264 89 51 20 15 15 0.036 32915 chr9 214706 214706 G C rs540473 DOCK8-AS1 0.484 0.503 0.442 192 568 193 0.492 130 147 50 32 49 15.45 32916 chr19 50193109 50193109 C A rs76806983 ADM5 Synonymous SNV I5I 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 0 15.5 32917 chr8 67380528 67380528 T C rs1060242 ADHFE1 Nonsynonymous SNV C449R 0.539 0.544 0.575 215 633 209 0.551 169 184 51 51 55 9.577 32918 chr19 50243171 50243171 C T rs79485806 TSKS Synonymous SNV L547L 0.013 0.018 0.02 3 15 7 0.008 6 0 0 0 0 7.454 32919 chr19 36352885 36352885 G A rs749694185 KIRREL2 Nonsynonymous SNV R440Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.3 32920 chr9 215057 215057 T C rs481905 DOCK8-AS1 0.503 0.534 0.527 204 591 205 0.523 155 146 58 44 55 Benign 3.828 32921 chr8 67796120 67796120 C G rs17332410 MCMDC2 Nonsynonymous SNV L322V 0.075 0.07 0.075 33 88 27 0.085 22 2 0 1 1 23.9 32922 chr19 40363916 40363916 C T rs77005739 FCGBP Nonsynonymous SNV R4909H 0.048 0.057 0.065 18 56 22 0.046 19 1 0 0 0 23.2 32923 chr9 215269 215269 A C rs636922 DOCK8-AS1 0.219 0.219 0.204 84 257 84 0.215 60 34 12 5 14 Benign 10.4 32924 chr9 271638 271638 C T rs506121 DOCK8 Nonsynonymous SNV A22V 0.319 0.31 0.31 129 374 119 0.331 91 66 22 11 24 Benign 24.8 32925 chr19 40366240 40366240 G A rs62106922 FCGBP Nonsynonymous SNV P4665L 0.043 0.052 0.051 17 50 20 0.044 15 1 0 0 0 23.1 32926 chr1 248129240 248129240 G A rs4478844 OR2AK2 Nonsynonymous SNV V203M 0.616 0.688 0.609 249 723 264 0.638 179 227 89 60 78 23.6 32927 chr19 50387729 50387729 C T rs35681527 TBC1D17 Synonymous SNV G386G 0.118 0.13 0.102 61 138 50 0.156 30 11 0 1 3 14.78 32928 chr9 370244 370244 A G rs913703 DOCK8 Synonymous SNV K536K 0.246 0.242 0.231 89 289 93 0.228 68 35 10 10 10 Benign 10.1 32929 chr1 248185962 248185962 C T rs539695078 OR2L5 Nonsynonymous SNV S238L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 32930 chr19 41073863 41073863 C T rs61733984 SPTBN4 Nonsynonymous SNV P2211S 0.107 0.096 0.102 50 126 37 0.128 30 13 2 1 8 10.39 32931 chr9 377111 377111 G C rs10814431 DOCK8 Synonymous SNV L712L 0.257 0.247 0.228 84 302 95 0.215 67 38 9 10 10 Benign 9.726 32932 chr1 248285464 248285464 C T rs746557706 OR2M1P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.293 32933 chr9 390512 390512 C T rs2297075 DOCK8 Synonymous SNV T872T 0.261 0.24 0.235 100 307 92 0.256 69 39 8 11 14 Benign 18.01 32934 chr19 50412217 50412217 C G rs1062798 NUP62 Nonsynonymous SNV S283T 0.357 0.328 0.194 111 419 126 0.285 57 76 23 11 14 Likely benign 0.001 32935 chr9 421032 421032 C G rs2297079 DOCK8 Synonymous SNV L1269L 0.597 0.615 0.592 218 701 236 0.559 174 216 67 54 58 Benign 13.57 32936 chr9 429719 429719 T C rs7854035 DOCK8 Synonymous SNV F1397F 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 Benign 1.011 32937 chr8 69434195 69434195 T C rs2289831 C8orf34 Synonymous SNV S266S 0.18 0.164 0.16 74 211 63 0.19 47 25 4 2 9 9.195 32938 chr19 50435747 50435747 T C rs283525 ATF5 Synonymous SNV L83L 0.614 0.602 0.541 230 721 231 0.59 159 218 68 43 71 0.004 32939 chr9 441952 441952 G A rs1887957 DOCK8 Synonymous SNV E1711E 0.809 0.786 0.81 306 950 302 0.785 238 388 117 96 117 Benign 11.66 32940 chr8 69699756 69699756 G A rs16935065 C8orf34 Nonsynonymous SNV A452T 0.19 0.227 0.207 88 223 87 0.226 61 21 10 3 11 19.01 32941 chr19 50435862 50435862 C T rs283526 ATF5 Nonsynonymous SNV P121L 0.445 0.453 0.136 166 522 174 0.426 40 139 45 15 45 3.828 32942 chr19 4859631 4859631 G T rs11552104 PLIN3 Nonsynonymous SNV L107I 0.023 0.023 0.007 5 27 9 0.013 2 0 0 0 0 25.2 32943 chr9 449874 449874 G C rs34908836 DOCK8 Nonsynonymous SNV A1870P 0.043 0.044 0.058 16 50 17 0.041 17 2 1 0 1 Benign 18.64 32944 chr9 712060 712060 G C rs4465020 KANK1 Nonsynonymous SNV E274Q 0.393 0.398 0.435 148 461 153 0.379 128 99 30 26 33 0.166 32945 chr19 50436371 50436371 G A rs8667 MIR4751 0.293 0.276 0.259 85 344 106 0.218 76 56 15 12 11 5.803 32946 chr19 49933786 49933786 C T rs145502722 SLC17A7 Nonsynonymous SNV R558Q 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 33 32947 chr8 71646361 71646361 T A rs74941166 XKR9 Nonsynonymous SNV F275Y 0.007 0.01 0.014 3 8 4 0.008 4 0 0 0 0 23.8 32948 chr19 50666389 50666389 G A rs61742305 IZUMO2 Synonymous SNV C21C 0.175 0.19 0.139 76 205 73 0.195 41 25 4 6 6 10.89 32949 chr9 712137 712137 G C rs912175 KANK1 Synonymous SNV L299L 0.195 0.232 0.139 89 229 89 0.228 41 17 8 4 12 1.392 32950 chr19 50760716 50760716 C G rs378811 MYH14 Synonymous SNV R694R 0.503 0.477 0.456 176 591 183 0.451 134 152 38 25 43 Benign 13.51 32951 chr9 712156 712156 T G rs912174 KANK1 Nonsynonymous SNV S306A 0.196 0.232 0.139 89 230 89 0.228 41 17 8 4 12 9.261 32952 chr9 712599 712599 C T rs11789987 KANK1 Synonymous SNV N453N 0.395 0.401 0.435 150 464 154 0.385 128 99 30 27 34 8.862 32953 chr19 50832152 50832152 T C rs375912738 KCNC3 Nonsynonymous SNV D63G 0.801 0.76 0.711 323 940 292 0.828 209 468 146 104 159 Benign 8.627 32954 chr9 732536 732536 T C rs34832656 KANK1 Nonsynonymous SNV I897T 0.17 0.185 0.126 66 200 71 0.169 37 14 5 2 7 0.162 32955 chr8 73979655 73979655 C A rs189764328 SBSPON Nonsynonymous SNV R239L 0.013 0.005 0 8 15 2 0.021 0 0 0 0 0 24.7 32956 chr19 41754433 41754433 A G rs763247255 AXL Nonsynonymous SNV I250V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.2 32957 chr19 48685877 48685877 G A rs16981771 ZSWIM9 Synonymous SNV P147P 0.111 0.104 0.146 46 130 40 0.118 43 7 5 4 2 11.84 32958 chr9 740901 740901 C T rs2296049 KANK1 Synonymous SNV F965F 0.227 0.234 0.204 79 266 90 0.203 60 27 10 8 9 12.99 32959 chr9 742342 742342 A G rs10733535 KANK1 Synonymous SNV G1022G 0.991 0.99 0.993 386 1164 380 0.99 292 577 188 145 191 1.04 32960 chr9 977312 977312 T C rs148355218 DMRT3 Nonsynonymous SNV V104A 0.111 0.096 0.167 61 130 37 0.156 49 16 7 4 8 0.002 32961 chr8 74005131 74005131 A G rs59331088 SBSPON Nonsynonymous SNV F58L 0.372 0.372 0.391 163 437 143 0.418 115 91 26 23 37 17.13 32962 chr9 1056728 1056728 G C rs3824419 DMRT2 Nonsynonymous SNV A207P 0.299 0.284 0.347 134 351 109 0.344 102 46 16 21 24 0.616 32963 chr19 50926126 50926126 C T rs61729811 SPIB Nonsynonymous SNV P38L 0.075 0.078 0.051 24 88 30 0.062 15 4 0 0 0 12.01 32964 chr8 74169337 74169337 T C rs2546217 C8orf89 Nonsynonymous SNV E51G 0.178 0.185 0.16 74 209 71 0.19 47 27 6 7 7 8.92 32965 chr19 45179631 45179631 C T rs76075198 CEACAM19 Synonymous SNV A171A 0.014 0.01 0.003 2 17 4 0.005 1 0 0 0 0 16.82 32966 chr19 48800751 48800751 C A rs61747754 CCDC114 Nonsynonymous SNV A499S 0.217 0.229 0.194 93 255 88 0.238 57 32 12 7 13 Benign 0.76 32967 chr19 41847860 41847860 G A rs1800472 TGFB1 Nonsynonymous SNV T263I 0.065 0.081 0.058 29 76 31 0.074 17 2 0 2 0 Benign 19.4 32968 chr19 36940698 36940698 A G rs10410711 ZNF566 Synonymous SNV H42H 0.031 0.026 0.041 16 36 10 0.041 12 1 0 0 0 0.003 32969 chr9 2029199 2029199 G A rs10964471 SMARCA2 Synonymous SNV T59T 0.071 0.081 0.048 27 83 31 0.069 14 5 2 0 1 Benign 11.18 32970 chr19 48836673 48836673 G T rs3826828 TMEM143 Synonymous SNV R295R 0.445 0.393 0.395 165 523 151 0.423 116 116 28 27 37 14.03 32971 chr9 2039777 2039779 CAG - rs113070757 SMARCA2 Q238del 0.092 0.107 0.058 35 108 41 0.09 17 7 2 0 4 32972 chr9 2116037 2116037 G A rs6601 SMARCA2 Synonymous SNV E1224E 0.105 0.102 0.146 39 123 39 0.1 43 7 0 6 0 Benign 10.4 32973 chr19 50957397 50957397 G A rs25665 MYBPC2 Nonsynonymous SNV V624I 0.277 0.245 0.248 93 325 94 0.238 73 47 15 11 6 14.89 32974 chr19 50100676 50100676 C T rs368892567 PRR12 Synonymous SNV G1028G 0.012 0.013 0.014 3 14 5 0.008 4 0 0 0 0 7.707 32975 chr9 2622121 2622121 A G rs12379259 VLDLR-AS1 0.644 0.698 0.663 273 756 268 0.7 195 304 116 79 117 Benign 15.06 32976 chr1 248569674 248569674 A G rs41269351 OR2T1 Nonsynonymous SNV I127V 0.017 0.021 0.024 3 20 8 0.008 7 0 0 1 0 9.533 32977 chr19 37038416 37038416 T C rs10424565 ZNF529 Synonymous SNV R330R 0.057 0.034 0.078 26 67 13 0.067 23 5 0 1 0 7.461 32978 chr8 75149472 75149472 G A rs200862070 JPH1 Nonsynonymous SNV H658Y 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 27.1 32979 chr19 48869178 48869178 C T rs919804 SYNGR4 Nonsynonymous SNV R27W 0.04 0.057 0.044 20 47 22 0.051 13 2 2 0 0 26.8 32980 chr19 45912490 45912492 AAG - rs35729377 CD3EAP K430del 0.252 0.255 0.211 108 296 98 0.277 62 40 14 5 16 32981 chr9 2622278 2622278 G A rs2219143 VLDLR-AS1 0.263 0.273 0.262 107 309 105 0.274 77 77 32 19 22 Benign 16.11 32982 chr19 4531658 4531658 G A rs138772557 PLIN5 Synonymous SNV L79L 0.009 0 0.003 3 10 0 0.008 1 1 0 0 0 3.985 32983 chr19 45912736 45912736 C A rs3212986 CD3EAP Nonsynonymous SNV Q506K 0.246 0.245 0.231 107 289 94 0.274 68 44 16 6 17 drug response 0.008 32984 chr9 2811505 2811505 G A rs2270888 PUM3 Synonymous SNV H497H 0.516 0.526 0.575 217 606 202 0.556 169 174 56 52 61 2.174 32985 chr19 48918157 48918157 C T rs3786746 GRIN2D Synonymous SNV C483C 0.039 0.044 0.048 12 46 17 0.031 14 1 0 0 0 16.85 32986 chr19 50967640 50967640 G A rs25667 MYBPC2 Nonsynonymous SNV R1089H 0.267 0.242 0.224 85 313 93 0.218 66 45 14 11 6 11.08 32987 chr9 2828765 2828765 C G rs2173904 PUM3 Nonsynonymous SNV R289P 0.577 0.607 0.558 246 677 233 0.631 164 208 77 59 77 18.31 32988 chr19 45998247 45998247 A G rs10401270 RTN2 Synonymous SNV S32S 0.096 0.102 0.095 38 113 39 0.097 28 4 1 3 3 Benign 0.005 32989 chr9 4118111 4118111 G T rs6415788 GLIS3 Nonsynonymous SNV P301Q 0.591 0.581 0.582 236 694 223 0.605 171 224 66 49 71 Benign 0.622 32990 chr8 76452313 76452313 G A rs2943549 HNF4G Nonsynonymous SNV S39N 0.506 0.529 0.585 207 594 203 0.531 172 165 58 51 53 0.712 32991 chr19 37134737 37134737 T C rs10419469 ZNF461 Nonsynonymous SNV N81S 0.049 0.034 0.061 22 57 13 0.056 18 5 0 2 0 0.004 32992 chr1 2487663 2487663 C A rs2227312 TNFRSF14-AS1 0 0 0.459 0 0 0 0 135 0 0 26 0 2.126 32993 chr19 45397307 45397307 C T rs112849259 TOMM40 Synonymous SNV D209D 0.024 0.029 0.014 6 28 11 0.015 4 0 0 0 0 14.74 32994 chr19 41095017 41095017 G A rs746769548 SHKBP1 Nonsynonymous SNV V508M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 30 32995 chr19 46024584 46024584 T G rs2301283 VASP Synonymous SNV G116G 0.049 0.031 0.017 16 57 12 0.041 5 1 0 0 2 9.395 32996 chr9 4118208 4118208 A G rs806052 GLIS3 Nonsynonymous SNV S269P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 0.004 32997 chr1 2487766 2487766 T C rs2227313 TNFRSF14-AS1 0 0 0.463 0 0 0 0 136 0 0 27 0 0.13 32998 chr8 76468282 76468282 G A rs1805098 HNF4G Nonsynonymous SNV M237I 0.461 0.492 0.422 182 541 189 0.467 124 172 58 44 51 15.59 32999 chr19 50342111 50342111 G A rs10403127 PTOV1-AS1 0.172 0.198 0.282 72 202 76 0.185 83 33 13 16 11 7.278 33000 chr19 51020903 51020903 A G rs61751956 LRRC4B Synonymous SNV P689P 0.354 0.323 0.32 113 416 124 0.29 94 70 16 14 16 0.089 33001 chr19 49055524 49055524 C T rs16982141 SULT2B1 Synonymous SNV A5A 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Benign 10.48 33002 chr9 4576680 4576680 T C rs301430 SLC1A1 Synonymous SNV T370T 0.24 0.245 0.197 91 282 94 0.233 58 38 15 4 8 Benign 0.159 33003 chr8 77690563 77690563 T C rs16939357 ZFHX4 Synonymous SNV H1071H 0.145 0.141 0.194 69 170 54 0.177 57 11 5 5 7 0.034 33004 chr19 46094597 46094597 G A rs3745820 GPR4 Synonymous SNV G176G 0.154 0.198 0.146 53 181 76 0.136 43 11 10 3 4 6.653 33005 chr19 51021057 51021057 A G rs61751957 LRRC4B Nonsynonymous SNV V638A 0.299 0.266 0.296 98 351 102 0.251 87 51 13 11 8 0.001 33006 chr19 37240622 37240622 C T rs150399291 ZNF850 Synonymous SNV Q408Q 0.027 0.023 0.037 14 32 9 0.036 11 1 0 0 0 13.01 33007 chr8 77761919 77761919 C T rs61729527 ZFHX4 Nonsynonymous SNV P1273S 0.033 0.049 0.024 22 39 19 0.056 7 0 0 0 1 24 33008 chr19 46133251 46133251 C T rs7251952 EML2 Synonymous SNV S72S 0.167 0.138 0.116 62 196 53 0.159 34 11 3 1 6 17.71 33009 chr9 4622453 4622453 T C rs10974657 SPATA6L Nonsynonymous SNV R152G 0.053 0.055 0.058 32 62 21 0.082 17 1 1 0 1 23.2 33010 chr19 41235120 41235120 A G rs10420685 ITPKC Synonymous SNV A423A 0.041 0.034 0.044 22 48 13 0.056 13 0 0 1 1 11.09 33011 chr19 46133256 46133256 G A rs7252175 EML2 Nonsynonymous SNV L71F 0.167 0.138 0.116 62 196 53 0.159 34 11 3 1 6 26.4 33012 chr9 4625429 4625429 T C rs4742022 SPATA6L Synonymous SNV Q98Q 0.062 0.06 0.068 34 73 23 0.087 20 1 1 0 1 0.003 33013 chr19 50364891 50364891 G T rs200611702 PNKP Nonsynonymous SNV L454M 0.011 0.008 0 0 13 3 0 0 0 0 0 0 Uncertain significance 23.3 33014 chr9 4629170 4629170 - AAAA rs34533529 SPATA6L 0.066 0.042 0.122 29 77 16 0.074 36 9 2 3 4 33015 chr19 46141845 46141845 T C rs12151009 EML2 Nonsynonymous SNV M11V 0.165 0.135 0.109 61 194 52 0.156 32 11 2 1 6 14.51 33016 chr9 4662912 4662912 G A rs141245641 PLPP6 Synonymous SNV L179L 0.003 0 0.02 1 3 0 0.003 6 0 0 0 0 6.183 33017 chr19 41255603 41255603 G A rs2254338 C19orf54 Synonymous SNV L36L 0.039 0.034 0.044 21 46 13 0.054 13 0 0 1 1 2.659 33018 chr19 41944270 41944270 T C rs2231939 DMAC2 Nonsynonymous SNV H29R 0.02 0.018 0.007 7 24 7 0.018 2 0 0 0 0 0.001 33019 chr9 5557672 5557672 T C rs7854303 PDCD1LG2 Nonsynonymous SNV F229S 0.997 0.995 0.997 389 1170 382 0.997 293 583 190 146 194 2.158 33020 chr19 41263403 41263403 A G rs2230694 SNRPA Synonymous SNV K80K 0.066 0.049 0.068 29 77 19 0.074 20 0 0 2 1 0.191 33021 chr8 81905397 81905397 A G rs2016465 PAG1 Synonymous SNV A22A 0.44 0.359 0.442 148 517 138 0.379 130 119 29 27 34 0.631 33022 chr19 41281700 41281700 C T rs2233156 MIA Synonymous SNV P57P 0.039 0.039 0.044 19 46 15 0.049 13 0 0 1 0 15.52 33023 chr8 82357112 82357112 T C rs2229015 PMP2 Synonymous SNV E62E 0.18 0.167 0.143 81 211 64 0.208 42 18 5 3 10 7.279 33024 chr19 4207940 4207940 G A rs2240669 ANKRD24 Synonymous SNV A269A 0.102 0.091 0.119 55 120 35 0.141 35 5 2 3 1 14.35 33025 chr9 5557708 5557708 T C rs7854413 PDCD1LG2 Nonsynonymous SNV I241T 0.138 0.099 0.163 64 162 38 0.164 48 9 0 6 5 11.31 33026 chr19 41307170 41307170 G A rs2545763 EGLN2 Synonymous SNV P231P 0.037 0.039 0.041 17 44 15 0.044 12 0 0 1 0 10.07 33027 chr19 51171188 51171188 G A rs750578 SHANK1 Synonymous SNV T1343T 0.342 0.331 0.282 136 401 127 0.349 83 104 35 25 41 10.45 33028 chr9 5919734 5919734 G A rs150136388 KIAA2026 Nonsynonymous SNV P2088S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.9 33029 chr19 50398373 50398373 G A rs147320311 IL4I1 Nonsynonymous SNV T106M 0.014 0.01 0.003 0 17 4 0 1 0 0 0 0 23.4 33030 chr19 51228481 51228481 C T rs137983631 CLEC11A Synonymous SNV H243H 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 19.69 33031 chr19 51228634 51228634 G A rs11084024 CLEC11A Synonymous SNV E294E 0.258 0.242 0.241 108 303 93 0.277 71 47 8 10 19 8.763 33032 chr9 5919788 5919788 G C rs41306059 KIAA2026 Nonsynonymous SNV P2070A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.103 33033 chr19 51297825 51297825 G A rs55716643 ACP4 Nonsynonymous SNV A325T 0.233 0.26 0.197 111 273 100 0.285 58 30 15 6 20 4.206 33034 chr9 5968416 5968416 A G rs3739649 KIAA2026 Synonymous SNV L605L 0.993 0.992 0.99 384 1166 381 0.985 291 581 189 144 189 0.315 33035 chr19 51297826 51297826 C A rs55735528 ACP4 Nonsynonymous SNV A325D 0.233 0.26 0.197 111 273 100 0.285 58 30 15 6 20 8.125 33036 chr9 5969249 5969249 A G rs10739080 KIAA2026 Synonymous SNV L328L 0.579 0.602 0.629 226 680 231 0.579 185 198 73 57 65 0.459 33037 chr8 87226635 87226642 CCGACATC - rs56993779 SLC7A13 *471* 0.174 0.188 0.184 82 204 72 0.21 54 27 8 4 9 33038 chr9 6328947 6328947 T C rs3847262 TPD52L3 Nonsynonymous SNV F118L 0.945 0.956 0.905 355 1109 367 0.91 266 524 176 121 161 26.9 33039 chr19 45801156 45801156 G A rs200954706 MARK4 Synonymous SNV G607G 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 4.683 33040 chr19 51301395 51301395 C T rs4801853 C19orf48 Nonsynonymous SNV G104E 0.231 0.258 0.194 111 271 99 0.285 57 32 15 6 20 14.54 33041 chr8 87229739 87229739 C T rs4419794 SLC7A13 Nonsynonymous SNV R380K 0.08 0.091 0.184 44 94 35 0.113 54 21 7 4 9 0.004 33042 chr1 25570081 25570081 T C rs1043879 RSRP1 Nonsynonymous SNV E239G 0.352 0.339 0.35 149 413 130 0.382 103 67 24 19 29 22.1 33043 chr9 6610326 6610326 C T rs35374927 GLDC Synonymous SNV E167E 0.376 0.349 0.344 134 442 134 0.344 101 84 24 14 21 Benign 13.05 33044 chr19 51301456 51301456 G A rs4802741 C19orf48 Nonsynonymous SNV R84C 0.239 0.263 0.197 112 281 101 0.287 58 32 15 6 20 5.207 33045 chr8 87241847 87241847 G A rs7814198 SLC7A13 Synonymous SNV G220G 0.259 0.255 0.238 121 304 98 0.31 70 38 11 6 15 10.49 33046 chr9 6984236 6984236 G A rs2296067 KDM4C Nonsynonymous SNV D215N 0.256 0.219 0.204 95 300 84 0.244 60 36 8 5 12 6.097 33047 chr19 51323232 51323232 T C rs5517 KLK1 Nonsynonymous SNV K186E 0.198 0.242 0.235 82 233 93 0.21 69 30 9 9 10 0.003 33048 chr8 87497176 87497176 G A rs11539113 RMDN1 Synonymous SNV C126C 0.24 0.253 0.211 126 282 97 0.323 62 37 12 12 23 12.45 33049 chr9 7046901 7046901 C G rs1407856 KDM4C Nonsynonymous SNV Q512E 0.191 0.193 0.167 77 224 74 0.197 49 20 11 4 7 11.03 33050 chr9 7076463 7076463 G A rs1570512 KDM4C Nonsynonymous SNV S782N 0.618 0.654 0.622 250 726 251 0.641 183 224 86 57 80 0.602 33051 chr9 7103816 7103816 C T rs3763651 KDM4C Synonymous SNV D597D 0.342 0.362 0.395 136 401 139 0.349 116 65 23 28 24 2.296 33052 chr8 87666251 87666251 T G rs4961206 CNGB3 Nonsynonymous SNV T298P 0.621 0.648 0.697 267 729 249 0.685 205 222 75 72 91 Benign 18.71 33053 chr9 8389364 8389364 C G rs2279776 PTPRD Synonymous SNV G1011G 0.464 0.526 0.5 188 545 202 0.482 147 117 53 39 51 12.85 33054 chr19 51330932 51330932 G T rs3745522 KLK15 Synonymous SNV A60A 0.163 0.211 0.204 72 191 81 0.185 60 25 9 9 9 7.69 33055 chr1 26146539 26146539 A C rs2223224 LOC646471 0 0 0.575 0 0 0 0 169 0 0 77 0 3.139 33056 chr9 12775861 12775861 - GGCGGCGGC rs139315731 LURAP1L G55_C56insGGG 0.792 0.792 0.721 316 930 304 0.81 212 366 117 94 125 33057 chr1 26146884 26146884 C G rs984412 LOC646471 0 0 0.803 0 0 0 0 236 0 0 97 0 11.88 33058 chr9 12775889 12775889 A G rs3750501 LURAP1L Nonsynonymous SNV S59G 0.8 0.81 0.799 318 939 311 0.815 235 371 123 96 127 19.69 33059 chr19 51359497 51359497 T C rs11573 KLK3 Synonymous SNV G16G 0.373 0.409 0.136 157 438 157 0.403 40 76 32 12 27 0.153 33060 chr8 90958422 90958422 T C rs1061302 NBN Synonymous SNV P672P 0.277 0.313 0.231 107 325 120 0.274 68 45 19 11 20 Benign 0.188 33061 chr9 13112116 13112116 A G rs10809904 MPDZ Synonymous SNV I1815I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 4.454 33062 chr19 51359503 51359503 A G rs1135766 KLK3 Synonymous SNV A18A 0.376 0.411 0.167 157 442 158 0.403 49 76 32 14 27 0.004 33063 chr8 90967711 90967711 A G rs709816 NBN Synonymous SNV D399D 0.31 0.344 0.289 127 364 132 0.326 85 56 24 14 25 Benign 0.363 33064 chr9 13190162 13190162 T A rs4740548 MPDZ Nonsynonymous SNV E702V 0.017 0.008 0.031 9 20 3 0.023 9 0 0 0 0 Benign 28.3 33065 chr19 51361382 51361382 G A rs61752561 KLK3 Nonsynonymous SNV D102N 0.017 0.036 0.017 10 20 14 0.026 5 0 0 0 0 0.007 33066 chr8 90990479 90990479 C G rs1805794 NBN Nonsynonymous SNV E185Q 0.274 0.313 0.265 107 322 120 0.274 78 45 19 11 20 Benign 6.326 33067 chr19 46518651 46518651 A G rs7895 CCDC61 Nonsynonymous SNV T271A 0.174 0.195 0.156 65 204 75 0.167 46 21 5 4 2 16.62 33068 chr9 13190163 13190163 C T rs4741289 MPDZ Nonsynonymous SNV E702K 0.017 0.008 0.031 9 20 3 0.023 9 0 0 0 0 Benign 33 33069 chr8 90995019 90995019 C T rs1063045 NBN Synonymous SNV L34L 0.279 0.313 0.272 107 328 120 0.274 80 45 19 12 20 Benign 12.77 33070 chr9 13219570 13219570 T C rs13297480 MPDZ Synonymous SNV T358T 0.18 0.159 0.177 54 211 61 0.138 52 18 4 6 3 Benign 0.025 33071 chr19 46518682 46518682 G A rs7271 CCDC61 Nonsynonymous SNV R281K 0.153 0.18 0.143 58 180 69 0.149 42 21 5 3 2 7.482 33072 chr8 91018507 91018507 T A rs16902273 DECR1 0.014 0.026 0.024 8 16 10 0.021 7 0 0 0 0 4.758 33073 chr9 13219761 13219761 G A rs770059283 MPDZ Nonsynonymous SNV R295C 0 0 0 0 0 0 0 0 0 0 0 0 32 33074 chr9 14619085 14619085 C T rs61752940 ZDHHC21 Nonsynonymous SNV R129Q 0.008 0 0 2 9 0 0.005 0 0 0 0 0 25.1 33075 chr9 14737506 14737506 T G rs10961689 FREM1 Nonsynonymous SNV Q679P 0.74 0.758 0.82 299 869 291 0.767 241 326 111 98 117 Benign 1.924 33076 chr19 49377242 49377242 G C rs557806 PPP1R15A Nonsynonymous SNV R251P 0.185 0.141 0.197 75 217 54 0.192 58 24 3 4 5 6.982 33077 chr19 45992677 45992677 C T rs143937661 RTN2 Nonsynonymous SNV G50S 0.009 0.003 0 5 10 1 0.013 0 0 0 0 0 Benign/Likely benign 21.3 33078 chr9 14775853 14775853 A G rs1032474 FREM1 Synonymous SNV D133D 0.904 0.888 0.884 360 1061 341 0.923 260 480 154 116 165 Benign 0.031 33079 chr19 3762705 3762705 A G rs148456964 MRPL54 Nonsynonymous SNV T3A 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 0.47 33080 chr9 14801710 14801710 C A rs35870000 FREM1 Nonsynonymous SNV A1212S 0.323 0.318 0.401 145 379 122 0.372 118 58 21 25 26 Benign 2.212 33081 chr8 95143172 95143172 T G rs1051624 CDH17 Nonsynonymous SNV E739A 0.465 0.443 0.452 187 546 170 0.479 133 120 42 34 41 0.066 33082 chr1 26650661 26650661 A G rs41305769 CRYBG2 Synonymous SNV D1573D 0.06 0.052 0.068 24 70 20 0.062 20 1 1 0 0 8.517 33083 chr19 46124531 46124531 G A rs36062041 EML2 Synonymous SNV Y236Y 0.074 0.049 0.058 24 87 19 0.062 17 5 1 0 1 8.216 33084 chr9 14816829 14816829 G C rs7041710 FREM1 Nonsynonymous SNV L863V 0.101 0.117 0.112 36 118 45 0.092 33 9 1 3 2 Benign 0.006 33085 chr19 46145436 46145436 G C rs541800318 EML2 Nonsynonymous SNV T116S 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 8.046 33086 chr9 14824799 14824799 G A rs12236053 FREM1 Synonymous SNV S691S 0.089 0.107 0.109 34 104 41 0.087 32 7 1 4 2 Benign 11.05 33087 chr19 42817572 42817572 C T rs185966365 TMEM145 Nonsynonymous SNV P15L 0.012 0.008 0.01 5 14 3 0.013 3 0 0 0 0 22.4 33088 chr9 14859356 14859356 T C rs10961757 FREM1 Synonymous SNV Q152Q 0.147 0.167 0.184 65 173 64 0.167 54 9 3 1 3 Benign 0.036 33089 chr8 95158382 95158382 C T rs1131830 CDH17 Synonymous SNV L647L 0.416 0.367 0.432 179 488 141 0.459 127 98 26 33 38 7.089 33090 chr9 15188106 15188106 T C rs1407977 TTC39B Nonsynonymous SNV I351V 0.508 0.526 0.578 194 596 202 0.497 170 154 48 43 58 0.297 33091 chr8 95272605 95272605 G C rs2170363 GEM Nonsynonymous SNV R43G 0.142 0.18 0.18 60 167 69 0.154 53 18 8 8 5 10.47 33092 chr19 51527364 51527364 G A rs1048328 KLK11 Nonsynonymous SNV R134C 0.088 0.091 0.112 39 103 35 0.1 33 4 0 1 1 14.74 33093 chr9 15591372 15591372 T A rs4741510 CCDC171 Nonsynonymous SNV S121T 0.397 0.419 0.405 183 466 161 0.469 119 101 38 29 35 12.81 33094 chr19 47127324 47127324 C G rs2229128 PTGIR Synonymous SNV V53V 0.273 0.302 0.228 97 320 116 0.249 67 39 14 7 9 2.31 33095 chr9 15744683 15744683 G A rs34816651 CCDC171 Nonsynonymous SNV C829Y 0.025 0.018 0.02 8 29 7 0.021 6 0 0 0 0 16.97 33096 chr19 42213744 42213744 T C rs10402825 CEACAM5 Synonymous SNV G70G 0.118 0.083 0.065 44 139 32 0.113 19 11 1 2 2 Benign 0.002 33097 chr9 15784631 15784631 A G rs1539172 CCDC171 Nonsynonymous SNV K1077R 0.505 0.487 0.5 173 593 187 0.444 147 152 43 42 32 10.14 33098 chr19 46275976 46275976 G C rs527221 DMPK Nonsynonymous SNV L334V 0.102 0.117 0.082 52 120 45 0.133 24 8 3 1 6 Benign 18.38 33099 chr19 42213772 42213772 A G rs12971352 CEACAM5 Nonsynonymous SNV I80V 0.119 0.086 0.071 43 140 33 0.11 21 11 1 2 2 Benign 0.001 33100 chr19 3778219 3778219 C T rs35351680 MATK Nonsynonymous SNV A455T 0.072 0.068 0.054 21 84 26 0.054 16 4 2 0 0 16.71 33101 chr1 27023683 27023683 T C rs774614043 ARID1A Synonymous SNV S263S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.023 33102 chr9 16435848 16435848 T C rs3739714 BNC2 Nonsynonymous SNV T740A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 5.504 33103 chr19 43920612 43920612 G T rs35033974 TEX101 Nonsynonymous SNV G99V 0.08 0.099 0.075 34 94 38 0.087 22 1 2 0 1 23.2 33104 chr19 49398405 49398405 C T rs34378208 TULP2 Nonsynonymous SNV G122S 0.1 0.089 0.088 39 117 34 0.1 26 8 3 2 3 0.28 33105 chr19 42213782 42213782 T C rs28683503 CEACAM5 Nonsynonymous SNV V83A 0.118 0.086 0.071 43 139 33 0.11 21 11 1 2 2 Benign 0.003 33106 chr19 3779014 3779014 C A rs36072143 MATK Synonymous SNV T350T 0.072 0.068 0.058 21 84 26 0.054 17 4 2 0 0 12.22 33107 chr9 17135273 17135273 G C rs141168032 CNTLN Synonymous SNV G70G 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.117 33108 chr19 47282162 47282162 G A rs2070246 SLC1A5 Synonymous SNV Y74Y 0.235 0.216 0.224 98 276 83 0.251 66 29 5 7 10 3.016 33109 chr9 17273731 17273731 A G rs3808795 CNTLN Nonsynonymous SNV T284A 0.365 0.359 0.293 157 429 138 0.403 86 84 28 14 28 4.752 33110 chr19 37835658 37835658 C T rs2305115 ZNF875 Synonymous SNV S24S 0.015 0.023 0.034 9 18 9 0.023 10 0 0 0 0 12.17 33111 chr19 42213868 42213868 A G rs34155934 CEACAM5 Nonsynonymous SNV I112V 0.119 0.083 0.065 44 140 32 0.113 19 11 1 2 2 Benign 0.001 33112 chr19 46327053 46327053 C T rs7251942 SYMPK Synonymous SNV T857T 0.106 0.12 0.092 42 124 46 0.108 27 9 4 2 4 9.801 33113 chr19 37854040 37854040 G A rs2921563 ZNF875 Nonsynonymous SNV R388H 0.015 0.023 0.034 9 18 9 0.023 10 0 0 0 0 23.1 33114 chr19 46375779 46375779 C T rs16980091 FOXA3 Synonymous SNV N172N 0.114 0.138 0.088 46 134 53 0.118 26 10 6 1 1 11.1 33115 chr1 27339103 27339103 G T rs4970471 TENT5B Nonsynonymous SNV T20K 0.148 0.141 0.126 72 174 54 0.185 37 13 6 3 11 12.23 33116 chr9 17342383 17342383 C T rs1442527 CNTLN Synonymous SNV D609D 0.996 0.997 0.99 389 1169 383 0.997 291 582 191 144 194 10.26 33117 chr19 42213872 42213872 T C rs35091611 CEACAM5 Nonsynonymous SNV I113T 0.119 0.083 0.065 44 140 32 0.113 19 11 1 2 2 Benign 0.001 33118 chr9 17394536 17394536 C T rs7035276 CNTLN Nonsynonymous SNV T695I 0.73 0.75 0.248 288 857 288 0.738 73 397 139 35 134 7.825 33119 chr9 17394996 17394996 T C rs3739489 CNTLN Synonymous SNV H848H 0.937 0.945 0.908 368 1100 363 0.944 267 515 171 123 174 0.013 33120 chr8 96064423 96064423 G A rs61743028 NDUFAF6 Nonsynonymous SNV V169I 0.012 0.01 0.02 5 14 4 0.013 6 0 0 0 0 Benign/Likely benign 20.3 33121 chr19 47764017 47764017 G A rs143218686 CCDC9 Nonsynonymous SNV R128H 0.036 0.023 0.031 9 42 9 0.023 9 1 0 0 0 26.1 33122 chr9 17409366 17409366 G A rs2780211 CNTLN Synonymous SNV T896T 0.93 0.938 0.884 365 1092 360 0.936 260 511 169 118 172 16.32 33123 chr9 18504916 18504916 T A rs2277160 ADAMTSL1 Synonymous SNV G51G 0.568 0.523 0.575 226 667 201 0.579 169 189 49 48 63 13.06 33124 chr19 38028579 38028579 G A rs45505797 ZNF793 Nonsynonymous SNV R340H 0.015 0.023 0.027 9 18 9 0.023 8 0 0 0 0 6.546 33125 chr19 422238 422238 G T rs2287960 SHC2 Synonymous SNV R510R 0.021 0.013 0.017 5 25 5 0.013 5 0 0 0 0 2.447 33126 chr9 18681821 18681821 A G rs13293151 ADAMTSL1 Synonymous SNV T451T 0.473 0.464 0.422 187 555 178 0.479 124 128 46 27 43 4.276 33127 chr9 18776840 18776840 A C rs1549986 ADAMTSL1 Synonymous SNV I871I 0.894 0.898 0.908 348 1049 345 0.892 267 469 155 121 155 0.003 33128 chr9 18777368 18777368 T C rs7033684 ADAMTSL1 Synonymous SNV S1047S 0.705 0.724 0.714 279 828 278 0.715 210 290 98 75 99 0.006 33129 chr1 27700455 27700455 C T rs141300199 FCN3 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 23.4 33130 chr9 18950787 18950787 G A rs6475273 SAXO1 Nonsynonymous SNV P63S 0.825 0.815 0.84 323 969 313 0.828 247 402 130 104 133 0.004 33131 chr19 44111890 44111890 C T rs11553724 ZNF428 Nonsynonymous SNV R149Q 0.008 0.003 0.007 3 9 1 0.008 2 0 0 0 0 23.3 33132 chr9 18950895 18950895 T C rs7021572 SAXO1 Nonsynonymous SNV K27E 0.71 0.669 0.701 263 834 257 0.674 206 287 84 76 84 21.9 33133 chr9 19063108 19063108 T C rs13302748 HAUS6 Synonymous SNV L474L 0.451 0.417 0.388 156 529 160 0.4 114 119 37 27 31 1.269 33134 chr19 38160383 38160383 T G rs56281742 ZNF781 Nonsynonymous SNV I223L 0.031 0.029 0.034 11 36 11 0.028 10 0 0 0 0 21.2 33135 chr9 19076673 19076673 G C rs13286328 HAUS6 Synonymous SNV P372P 0.298 0.273 0.071 110 350 105 0.282 21 109 37 9 25 5.87 33136 chr19 44153100 44153100 A G rs4760 PLAUR Nonsynonymous SNV L272P 0.112 0.078 0.099 40 132 30 0.103 29 7 1 3 1 24.2 33137 chr8 99044528 99044528 C T rs2255317 MATN2 Nonsynonymous SNV T814M 0.112 0.122 0.099 44 132 47 0.113 29 13 4 1 1 12.71 33138 chr9 19341045 19341045 A G rs928128 DENND4C Synonymous SNV A930A 0.278 0.279 0.347 129 326 107 0.331 102 57 23 13 22 6.177 33139 chr19 51361315 51361315 C T rs12946 KLK3 Synonymous SNV S79S 0.161 0.169 0.167 65 189 65 0.167 49 17 5 1 4 9.176 33140 chr9 19576949 19576949 T G rs2383101 SLC24A2 Synonymous SNV R384R 0.742 0.719 0.789 268 871 276 0.687 232 323 96 92 87 6.052 33141 chr19 51361472 51361472 C A rs2003783 KLK3 Nonsynonymous SNV L132I 0.13 0.138 0.143 55 153 53 0.141 42 11 4 1 4 0.001 33142 chr8 99115082 99115082 C T rs11537947 RIDA Synonymous SNV T134T 0.112 0.096 0.173 45 132 37 0.115 51 9 0 3 3 14.22 33143 chr9 19622268 19622268 T C rs4977308 SLC24A2 Synonymous SNV P320P 0.666 0.685 0.704 250 782 263 0.641 207 274 94 74 80 0.091 33144 chr9 20866974 20866974 C G rs7875872 FOCAD Nonsynonymous SNV T718S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.415 33145 chr8 99153088 99153088 A C rs17184326 POP1 Nonsynonymous SNV K522N 0.135 0.133 0.15 54 158 51 0.138 44 14 3 0 5 25.5 33146 chr19 4280207 4280207 G C rs56261530 SHD Synonymous SNV A49A 0.094 0.068 0.082 30 110 26 0.077 24 4 0 0 1 10.41 33147 chr19 51362803 51362803 C T rs35192866 KLK3 Synonymous SNV T216T 0.121 0.138 0.133 47 142 53 0.121 39 10 4 0 2 0.138 33148 chr9 20953049 20953049 A G rs3206852 FOCAD Nonsynonymous SNV T1373A 0.381 0.388 0.299 147 447 149 0.377 88 77 33 11 29 12.98 33149 chr8 99170404 99170404 C G rs17856355 POP1 Nonsynonymous SNV L994V 0.076 0.078 0.092 21 89 30 0.054 27 4 0 0 1 25.6 33150 chr1 2938265 2938265 C T rs4576609 ACTRT2 Synonymous SNV H5H 0.177 0.167 0.133 63 208 64 0.162 39 14 5 5 5 8.795 33151 chr1 2938408 2938410 AGA - rs4013154 ACTRT2 K55del 0.172 0.167 0.119 61 202 64 0.156 35 14 5 4 5 33152 chr9 20988426 20988426 A G rs4977881 FOCAD Nonsynonymous SNV K1668E 0.724 0.729 0.704 278 850 280 0.713 207 307 100 69 104 Benign 8.786 33153 chr1 2938697 2938697 T G rs3795262 ACTRT2 Synonymous SNV S149S 0.176 0.169 0.133 63 207 65 0.162 39 14 5 5 5 0.002 33154 chr19 48047972 48047972 G A rs534665034 ZNF541 Nonsynonymous SNV A605V 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 1.921 33155 chr8 99208190 99208190 A C rs3779721 NIPAL2 Synonymous SNV T308T 0.353 0.326 0.255 118 415 125 0.303 75 77 24 9 17 0.019 33156 chr9 20990164 20990164 G A rs150147497 FOCAD Nonsynonymous SNV A1683T 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Benign 16.14 33157 chr8 100865836 100865836 G A rs6468694 VPS13B Nonsynonymous SNV G3432R 0.174 0.128 0.156 64 204 49 0.164 46 19 2 5 3 Benign/Likely benign 6.389 33158 chr9 21304803 21304803 G A rs10757212 IFNA5 Synonymous SNV T151T 0.204 0.182 0.204 82 240 70 0.21 60 24 7 7 7 0.856 33159 chr19 4357405 4357405 C T rs202116656 MPND Synonymous SNV L334L 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 12.1 33160 chr9 21350620 21350620 G A rs2988573 IFNA6 Synonymous SNV N89N 0.124 0.102 0.143 50 146 39 0.128 42 8 1 4 3 9.839 33161 chr19 51465096 51465096 C G rs1701950 KLK6 Synonymous SNV L55L 0.141 0.141 0.109 38 165 54 0.097 32 16 4 2 4 6.523 33162 chr8 100899793 100899793 G A rs1130569 COX6C Synonymous SNV Y56Y 0.214 0.174 0.19 79 251 67 0.203 56 25 6 9 6 1.088 33163 chr9 22029445 22029445 G A rs10965215 CDKN2B-AS1 0.566 0.555 0.588 202 664 213 0.518 173 194 58 48 53 9.756 33164 chr9 22029547 22029547 T C rs564398 CDKN2B-AS1 0.305 0.315 0.269 134 358 121 0.344 79 56 17 7 23 2.406 33165 chr19 52090100 52090100 T C rs45541134 ZNF175 Synonymous SNV N172N 0.302 0.268 0.303 119 355 103 0.305 89 50 15 15 21 0.013 33166 chr9 22447428 22447428 G T rs182619176 DMRTA1 Nonsynonymous SNV A122S 0.029 0.036 0.02 5 34 14 0.013 6 1 0 0 0 23.5 33167 chr1 29586396 29586396 G A rs548077175 PTPRU Synonymous SNV A230A 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 15.47 33168 chr19 52115645 52115645 G C rs3829655 SIGLEC5 Nonsynonymous SNV P499A 0.376 0.37 0.395 143 442 142 0.367 116 65 25 24 30 5.534 33169 chr8 101648164 101648164 C G rs2187016 SNX31 Nonsynonymous SNV D73H 0.226 0.208 0.231 97 265 80 0.249 68 22 11 7 15 24.6 33170 chr1 29602227 29602227 G T rs35745442 PTPRU Nonsynonymous SNV R471L 0.014 0.031 0.017 11 17 12 0.028 5 0 0 0 0 23.7 33171 chr19 47588325 47588325 G A rs2287842 ZC3H4 Synonymous SNV D365D 0.281 0.286 0.255 98 330 110 0.251 75 48 12 13 12 10.1 33172 chr19 48219929 48219929 G A rs61746407 EHD2 Synonymous SNV T20T 0.06 0.044 0.037 28 70 17 0.072 11 4 1 1 1 13 33173 chr9 24545513 24545513 G A rs6475797 IZUMO3 Synonymous SNV P45P 0.524 0.484 0.554 208 615 186 0.533 163 143 44 45 56 7.671 33174 chr19 38375830 38375830 G A rs62110235 WDR87 Synonymous SNV Y2827Y 0.032 0.029 0.034 11 37 11 0.028 10 0 0 0 0 0.307 33175 chr1 29642646 29642646 C T rs776469162 PTPRU Synonymous SNV L1163L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 33176 chr9 25677933 25677933 T C rs35110225 TUSC1 Synonymous SNV A129A 0.51 0.495 0.561 225 599 190 0.577 165 160 49 47 66 0.062 33177 chr1 31188089 31188089 C T rs1065755 MATN1 Synonymous SNV E425E 0.312 0.294 0.289 119 366 113 0.305 85 54 14 10 19 10.43 33178 chr9 25677953 25677953 T C rs34498078 TUSC1 Nonsynonymous SNV N123D 0.917 0.932 0.922 356 1077 358 0.913 271 499 166 124 163 0.048 33179 chr1 31208042 31208042 C T rs35351292 LAPTM5 Nonsynonymous SNV R226K 0.246 0.232 0.218 93 289 89 0.238 64 39 8 6 12 0.008 33180 chr9 26116150 26116150 G T rs7019716 LOC100506422 Nonsynonymous SNV S109I 0.369 0.344 0.32 153 433 132 0.392 94 79 13 18 29 0.295 33181 chr19 38376848 38376848 T C rs62110236 WDR87 Nonsynonymous SNV H2488R 0.031 0.029 0.034 11 36 11 0.028 10 0 0 0 0 0.003 33182 chr9 26984277 26984277 A G rs12004404 IFT74 Nonsynonymous SNV T110A 0.066 0.039 0.034 24 77 15 0.062 10 1 0 1 0 11.93 33183 chr19 44116907 44116907 G A SRRM5 Nonsynonymous SNV V212I 0.004 0.016 0 4 5 6 0.01 0 0 0 0 0 4.458 33184 chr19 51528041 51528041 C T rs3745539 KLK11 Nonsynonymous SNV G17E 0.106 0.091 0.085 37 125 35 0.095 25 6 1 2 2 0.031 33185 chr19 44223535 44223535 C T rs755683247 IRGC Synonymous SNV G275G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.07 33186 chr9 27183463 27183463 A C rs682632 TEK Nonsynonymous SNV Q199P 0.981 0.961 0.99 381 1152 369 0.977 291 565 177 144 186 14.17 33187 chr8 103573001 103573001 C G rs3018445 ODF1 Synonymous SNV P214P 0.689 0.708 0.765 276 809 272 0.708 225 272 99 88 98 Benign 10.12 33188 chr9 27524731 27524731 A G rs700785 IFNK Nonsynonymous SNV K133E 0.986 0.977 0.956 378 1158 375 0.969 281 571 183 134 183 0.001 33189 chr1 31973123 31973133 TGGAGTCTGTC - rs112889748 LDC1P 0 0 0.612 0 0 0 0 180 0 0 63 0 33190 chr19 50100874 50100874 G A rs111581233 PRR12 Synonymous SNV L1094L 0.022 0.013 0.01 9 26 5 0.023 3 1 0 0 0 6.375 33191 chr8 103573006 103573006 G A rs2916569 ODF1 Nonsynonymous SNV S216N 0.696 0.714 0.772 276 817 274 0.708 227 279 100 89 98 0.001 33192 chr1 31973138 31973138 T C rs56235358 LDC1P 0 0 0.616 0 0 0 0 181 0 0 63 0 0.922 33193 chr9 32459450 32459450 T G rs3205166 DDX58 Synonymous SNV V800V 0.406 0.411 0.388 168 477 158 0.431 114 104 34 23 41 1.248 33194 chr1 31973348 31973348 A C rs1574106 LDC1P 0 0 0.622 0 0 0 0 183 0 0 63 0 0.036 33195 chr19 52327784 52327784 C T rs3752125 FPR3 Synonymous SNV G261G 0.324 0.318 0.354 123 380 122 0.315 104 57 17 24 18 7.207 33196 chr1 31973409 31973409 G A rs1574105 LDC1P 0 0 0.626 0 0 0 0 184 0 0 63 0 7.154 33197 chr9 32480251 32480251 A T rs17217280 DDX58 Nonsynonymous SNV D580E 0.213 0.237 0.173 83 250 91 0.213 51 26 12 7 8 22.4 33198 chr1 31973440 31973440 G A rs1574104 LDC1P 0 0 0.626 0 0 0 0 184 0 0 63 0 5.584 33199 chr1 31973481 31973481 C T rs1573837 LDC1P 0 0 0.602 0 0 0 0 177 0 0 57 0 0.637 33200 chr1 31973703 31973703 T C rs1320578 LDC1P 0 0 0.5 0 0 0 0 147 0 0 49 0 1.22 33201 chr8 104312432 104312432 A G rs827528 FZD6 Star tloss M33V 0.301 0.284 0.306 113 353 109 0.29 90 49 16 12 22 8.115 33202 chr9 32784838 32784838 T C rs1810807 TMEM215 Synonymous SNV C219C 0.298 0.276 0.296 103 350 106 0.264 87 51 16 15 14 0.004 33203 chr19 48543906 48543906 G C rs34862923 CABP5 Nonsynonymous SNV T65R 0.119 0.128 0.095 49 140 49 0.126 28 11 3 2 5 31 33204 chr1 32084904 32084904 C T rs1056526 HCRTR1 Synonymous SNV R37R 0.518 0.5 0.497 196 608 192 0.503 146 159 50 32 45 16.63 33205 chr19 52825032 52825032 C T rs13343641 ZNF480 Nonsynonymous SNV P134S 0.193 0.185 0.194 69 227 71 0.177 57 22 4 9 8 9.329 33206 chr1 32092525 32092525 A G rs2271933 HCRTR1 Nonsynonymous SNV I408V 0.621 0.583 0.592 221 729 224 0.567 174 227 70 52 61 1.92 33207 chr9 33026572 33026572 T C rs20583 DNAJA1 Synonymous SNV A30A 0.576 0.536 0.582 223 676 206 0.572 171 190 57 54 61 7.946 33208 chr19 501701 501701 - ACACCACCTCCCCGGAGCCTCCCA rs71171990 MADCAM1 E239_S240insPPNTTSPE 0.25 0.208 0 100 294 80 0.256 0 49 11 0 12 33209 chr19 48544837 48544837 C T rs35535557 CABP5 Synonymous SNV E29E 0.067 0.078 0.065 27 79 30 0.069 19 4 2 2 2 15.04 33210 chr9 33240225 33240225 G A rs706107 SPINK4 Nonsynonymous SNV V7I 0.254 0.253 0.31 84 298 97 0.215 91 29 11 13 9 0.005 33211 chr19 47856336 47856336 C T rs12984558 DHX34 Nonsynonymous SNV R17W 0.061 0.06 0.065 21 72 23 0.054 19 1 0 1 1 15.91 33212 chr1 32096265 32096265 A G rs1061770 PEF1 Synonymous SNV I198I 0.52 0.5 0.429 197 610 192 0.505 126 160 50 35 46 7.63 33213 chr19 38380891 38380891 C T rs62110237 WDR87 Synonymous SNV K1140K 0.031 0.029 0.034 11 36 11 0.028 10 0 0 0 0 10.64 33214 chr9 33264540 33264540 C G rs1071545 BAG1 Nonsynonymous SNV G45R 0.991 0.99 0.963 376 1163 380 0.964 283 580 190 141 186 16.29 33215 chr19 47856768 47856768 G A DHX34 Nonsynonymous SNV A161T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 33216 chr9 33447424 33447424 C G rs591810 AQP3 Synonymous SNV L35L 0.658 0.698 0.694 256 773 268 0.656 204 261 93 72 83 12.67 33217 chr19 48024896 48024896 G A rs371182783 ZNF541 Nonsynonymous SNV R1243W 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 34 33218 chr8 105263979 105263979 C T rs10461 RIMS2 Synonymous SNV A263A 0.345 0.299 0.282 112 405 115 0.287 83 64 23 12 11 11.43 33219 chr19 38385614 38385616 GGA - rs76642851 WDR87 S243del 0.031 0.029 0.034 11 36 11 0.028 10 0 0 0 0 33220 chr9 33675629 33675629 A C rs7849845 PTENP1 0.298 0.289 0.31 127 350 111 0.326 91 46 22 14 21 1.668 33221 chr19 51837171 51837171 A G rs7255306 VSIG10L Synonymous SNV P816P 0.332 0.315 0.32 126 390 121 0.323 94 70 23 14 24 0.123 33222 chr19 38385695 38385695 C T rs62112272 WDR87 Synonymous SNV T216T 0.031 0.029 0.034 11 36 11 0.028 10 0 0 0 0 11.11 33223 chr8 105361740 105361740 C T rs144377739 DCSTAMP Synonymous SNV L320L 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 12.5 33224 chr9 33927899 33927899 G A rs307692 UBAP2 Nonsynonymous SNV A703V 1 1 0.986 389 1174 384 0.997 290 587 192 144 194 0.005 33225 chr19 44376937 44376937 G A rs76311065 ZNF404 Nonsynonymous SNV R474C 0.052 0.039 0.054 15 61 15 0.038 16 0 0 2 1 18.37 33226 chr9 34017106 34017106 C T rs1785506 UBAP2 Nonsynonymous SNV R14Q 0.644 0.661 0.677 277 756 254 0.71 199 256 95 68 102 24.4 33227 chr1 32204956 32204956 G A rs139108389 ADGRB2 Synonymous SNV I816I 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 13.06 33228 chr19 52876385 52876385 G A rs14048 ZNF880 Nonsynonymous SNV V12M 0.118 0.117 0.099 43 139 45 0.11 29 11 2 2 4 24 33229 chr8 106814656 106814656 G C rs2920048 ZFPM2 Nonsynonymous SNV E729D 0.106 0.12 0.197 65 125 46 0.167 58 10 1 8 9 Benign 0.002 33230 chr19 48833608 48833608 A G rs4893 EMP3 Nonsynonymous SNV I125V 0.038 0.049 0.065 9 45 19 0.023 19 1 0 0 0 14.53 33231 chr9 34256347 34256347 C T rs10814083 KIF24 Synonymous SNV G1086G 0.342 0.352 0.35 124 401 135 0.318 103 63 20 12 21 8.215 33232 chr19 38673298 38673298 C G rs3745945 SIPA1L3 Nonsynonymous SNV P1450A 0.122 0.151 0.116 53 143 58 0.136 34 4 6 2 4 Benign 18.2 33233 chr19 52887246 52887246 - CAA rs34678014 ZNF880 N140_S141insN 0.455 0.477 0.415 163 534 183 0.418 122 124 43 28 32 33234 chr9 34306410 34306410 C A rs17350674 KIF24 Nonsynonymous SNV W218L 0.228 0.216 0.235 111 268 83 0.285 69 25 12 5 18 33 33235 chr1 32557486 32557486 A G rs744455 TMEM39B Synonymous SNV S68S 0.043 0.047 0.054 19 51 18 0.049 16 3 1 0 1 4.158 33236 chr19 52887282 52887282 A G rs324125 ZNF880 Nonsynonymous SNV Y150C 0.161 0.156 0.139 65 189 60 0.167 41 16 4 3 7 7.496 33237 chr8 107773675 107773675 T C rs36024019 ABRA Nonsynonymous SNV K246E 0.044 0.047 0.051 19 52 18 0.049 15 3 0 0 0 23.2 33238 chr19 48918259 48918259 C T rs76779682 GRIN2D Synonymous SNV I517I 0.032 0.021 0.024 10 38 8 0.026 7 1 0 0 0 Benign 21.5 33239 chr19 38702950 38702950 G A rs11547760 DPF1 Synonymous SNV L348L 0.125 0.159 0.129 65 147 61 0.167 38 15 12 2 8 6.218 33240 chr1 32672908 32672908 T G rs3903683 IQCC Nonsynonymous SNV F289C 0.046 0.047 0.058 19 54 18 0.049 17 3 1 1 1 0.003 33241 chr19 51857738 51857738 G A rs79338777 ETFB Nonsynonymous SNV P52L 0.049 0.047 0.037 16 57 18 0.041 11 2 2 0 1 Benign 19.41 33242 chr9 34310927 34310927 T C rs10972048 KIF24 Nonsynonymous SNV M140V 0.573 0.596 0.507 216 673 229 0.554 149 190 69 40 63 0.001 33243 chr19 51892541 51892541 G C rs899262335 C19orf84 Synonymous SNV P86P 0.007 0.005 0 0 8 2 0 0 0 0 0 0 2.994 33244 chr1 32842319 32842319 T C rs34885668 BSDC1 Nonsynonymous SNV I139V 0.014 0.018 0.014 9 16 7 0.023 4 0 0 0 0 0.06 33245 chr9 34397545 34397545 A G rs11790577 C9orf24 Synonymous SNV Y29Y 0.583 0.563 0.531 249 684 216 0.638 156 198 61 43 77 2.144 33246 chr19 51892683 51892683 T C rs8104425 C19orf84 Nonsynonymous SNV N39S 0.117 0.122 0.129 41 137 47 0.105 38 14 3 3 7 0.009 33247 chr19 48950002 48950004 GAA - rs141552216 GRWD1 E129del 0.088 0.104 0.092 31 103 40 0.079 27 6 1 1 1 33248 chr9 34627940 34627940 C T rs13283357 ARID3C Synonymous SNV P24P 0.365 0.37 0.344 168 428 142 0.431 101 85 30 23 39 8.945 33249 chr19 504830 504830 C G rs7246543 MADCAM1 Synonymous SNV T251T 0.25 0.221 0.299 91 293 85 0.233 88 42 10 11 14 3.859 33250 chr19 44418397 44418397 G A rs140417622 ZNF45 Synonymous SNV F397F 0.017 0.01 0.01 5 20 4 0.013 3 0 0 0 0 11.57 33251 chr9 35043291 35043291 G T rs615474 C9orf131 Nonsynonymous SNV W187L 0.703 0.724 0.711 291 825 278 0.746 209 286 102 72 111 0.492 33252 chr8 110413762 110413762 T C rs964307 PKHD1L1 Nonsynonymous SNV Y440H 0.184 0.224 0.245 86 216 86 0.221 72 25 8 10 11 24 33253 chr19 49102513 49102513 C T rs1052131 SULT2B1 Synonymous SNV D301D 0.135 0.104 0.122 48 159 40 0.123 36 7 2 1 1 11.38 33254 chr19 52888048 52888048 G A rs324124 ZNF880 Synonymous SNV E405E 0.161 0.156 0.146 66 189 60 0.169 43 16 4 4 7 6.815 33255 chr9 35091880 35091880 C T rs10814196 PIGO Synonymous SNV L668L 0.146 0.167 0.163 66 171 64 0.169 48 15 8 5 8 Benign 9.046 33256 chr19 52888070 52888070 - TTGGGAGGCCGAGGCGG rs755155273 ZNF880 Frameshift insertion C413Ffs*22 0.187 0.185 0.082 63 219 71 0.162 24 0 0 0 0 33257 chr9 35546735 35546735 A G rs1535422 RUSC2 Nonsynonymous SNV T73A 1 0.995 0.986 389 1174 382 0.997 290 587 190 144 194 0.001 33258 chr8 110420384 110420384 T C rs13254245 PKHD1L1 Synonymous SNV N640N 0.225 0.258 0.252 96 264 99 0.246 74 25 8 10 11 1.314 33259 chr8 110420429 110420429 A G rs13252234 PKHD1L1 Synonymous SNV E655E 0.225 0.258 0.252 96 264 99 0.246 74 25 8 10 11 0.733 33260 chr9 35555458 35555458 G A rs41277053 RUSC2 Nonsynonymous SNV E806K 0.009 0.01 0.02 5 10 4 0.013 6 0 0 0 0 Benign 17.13 33261 chr9 35562549 35562549 G A rs755774 FAM166B Synonymous SNV C189C 0.394 0.404 0.456 169 463 155 0.433 134 98 32 28 44 12.61 33262 chr19 48495304 48495304 G A rs60213124 BSPH1 Nonsynonymous SNV T12M 0.205 0.201 0.276 71 241 77 0.182 81 29 8 12 8 10.2 33263 chr9 35660990 35660990 A G rs1339374 CCDC107 Nonsynonymous SNV I220V 0.714 0.74 0.827 277 838 284 0.71 243 302 105 103 102 0.004 33264 chr19 3918855 3918855 G A rs369876142 ATCAY Synonymous SNV E351E 0.005 0.018 0 1 6 7 0.003 0 0 1 0 0 Conflicting interpretations of pathogenicity 1.266 33265 chr19 48517538 48517538 G A rs62129078 ELSPBP1 Nonsynonymous SNV G61S 0.195 0.229 0.194 74 229 88 0.19 57 13 10 6 1 20.4 33266 chr9 35662251 35662251 T C rs2297879 ARHGEF39 Nonsynonymous SNV H306R 0.316 0.292 0.306 117 371 112 0.3 90 51 16 14 19 3.522 33267 chr19 48519158 48519158 C T rs34129198 ELSPBP1 Nonsynonymous SNV R73C 0.193 0.229 0.201 75 227 88 0.192 59 13 10 6 1 30 33268 chr9 35683240 35683240 - G rs35401252 TPM2 0.224 0.24 0.344 81 263 92 0.208 101 54 25 13 13 33269 chr19 48519205 48519205 C T rs34647554 ELSPBP1 Synonymous SNV C88C 0.18 0.219 0.187 68 211 84 0.174 55 10 9 6 1 6.085 33270 chr9 35705759 35705759 G A rs11541908 TLN1 Synonymous SNV T1867T 0.264 0.263 0.293 88 310 101 0.226 86 37 17 11 7 13.86 33271 chr19 48519244 48519244 A G rs35792818 ELSPBP1 Synonymous SNV S101S 0.194 0.229 0.201 74 228 88 0.19 59 13 10 6 1 0.728 33272 chr1 33944993 33944993 A G rs41265901 ZSCAN20 Nonsynonymous SNV K35R 0.066 0.049 0.044 28 77 19 0.072 13 2 0 0 1 2.268 33273 chr9 35712003 35712003 G A rs2295795 TLN1 Nonsynonymous SNV S1227L 0.289 0.276 0.306 93 339 106 0.238 90 43 19 13 7 22.9 33274 chr19 39322119 39322119 G T ECH1 Nonsynonymous SNV S30R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.6 33275 chr9 35749845 35749845 G C rs2236288 RGP1 Synonymous SNV P31P 0.25 0.219 0.231 82 294 84 0.21 68 37 6 9 6 12.18 33276 chr8 113253954 113253954 A G rs61753736 CSMD3 Nonsynonymous SNV L3288P 0.037 0.049 0.024 22 44 19 0.056 7 1 1 0 2 21.4 33277 chr9 35792423 35792423 T C rs2228580 NPR2 Synonymous SNV L6L 0.203 0.182 0.187 50 238 70 0.128 55 24 4 8 0 Benign 0.508 33278 chr19 44470476 44470476 A G rs370522551 ZNF221 Synonymous SNV K274K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.024 33279 chr9 35802583 35802583 C T rs5812 NPR2 Synonymous SNV Y598Y 0.201 0.18 0.228 50 236 69 0.128 67 24 4 9 0 Benign 10.06 33280 chr19 52130788 52130788 G A rs8104955 SIGLEC5 Synonymous SNV S403S 0.19 0.161 0.167 65 223 62 0.167 49 17 6 3 4 0.391 33281 chr8 113364696 113364696 A G rs11778209 CSMD3 Synonymous SNV Y1868Y 0.227 0.232 0.245 91 266 89 0.233 72 30 15 7 14 0.09 33282 chr9 35811486 35811497 CCAGGACCAGAG - rs141090907 SPAG8 S183_G186del 0.197 0.182 0.228 49 231 70 0.126 67 24 5 9 0 33283 chr1 34024928 34024928 T C rs16835591 CSMD2 Synonymous SNV Q2842Q 0.101 0.104 0.075 37 119 40 0.095 22 8 1 0 4 17.62 33284 chr8 113484935 113484935 C T rs12155677 CSMD3 Synonymous SNV A1630A 0.149 0.141 0.126 76 175 54 0.195 37 12 1 1 9 11.56 33285 chr19 3938647 3938647 C T rs144105210 NMRK2 Synonymous SNV A76A 0.016 0.018 0.01 8 19 7 0.021 3 1 0 0 1 17.29 33286 chr9 35826038 35826038 T C rs13294245 FAM221B Nonsynonymous SNV K41E 0.194 0.177 0.228 53 228 68 0.136 67 21 3 8 0 0.003 33287 chr1 34025030 34025030 A G rs16835593 CSMD2 Synonymous SNV T2808T 0.101 0.102 0.075 36 119 39 0.092 22 8 1 0 4 19.91 33288 chr8 117783914 117783914 A C rs1133950 UTP23 Nonsynonymous SNV K195Q 0.045 0.049 0.044 15 53 19 0.038 13 0 0 0 1 24.5 33289 chr19 48558286 48558286 G A rs2307281 PLA2G4C Synonymous SNV D436D 0.216 0.219 0.187 95 253 84 0.244 55 27 10 7 10 0.386 33290 chr19 52130925 52130925 G A rs8108074 SIGLEC5 Nonsynonymous SNV R358W 0.191 0.161 0.167 64 224 62 0.164 49 17 6 3 4 7.943 33291 chr19 39517537 39517537 C T rs370386520 FBXO27 Synonymous SNV P227P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.26 33292 chr9 35826058 35826058 T C rs13294256 FAM221B Nonsynonymous SNV H34R 0.193 0.174 0.228 53 226 67 0.136 67 20 3 8 0 0.001 33293 chr8 117950768 117950768 G C rs16889283 AARD Nonsynonymous SNV G96R 0.242 0.206 0.255 84 284 79 0.215 75 66 18 14 15 3.448 33294 chr19 48565207 48565207 G A rs2307276 PLA2G4C-AS1 0.051 0.044 0.068 15 60 17 0.038 20 1 1 1 0 7.193 33295 chr9 35870001 35870001 T C rs7044405 OR13J1 Nonsynonymous SNV H133R 0.562 0.51 0.554 206 660 196 0.528 163 191 48 50 52 3.204 33296 chr8 118184783 118184783 C T rs13266634 SLC30A8 Nonsynonymous SNV R325W 0.296 0.32 0.231 113 347 123 0.29 68 51 20 8 15 risk factor 23.2 33297 chr19 52204942 52204942 G A rs2167418 SPACA6 Synonymous SNV A108A 0.228 0.219 0 70 268 84 0.179 0 25 7 0 7 1.847 33298 chr19 49340661 49340661 C A rs35965411 PLEKHA4 Nonsynonymous SNV G742V 0.032 0.044 0.051 14 38 17 0.036 15 1 0 0 0 25.4 33299 chr9 35870225 35870225 G A rs72727089 OR13J1 Synonymous SNV P58P 0.291 0.302 0.259 118 342 116 0.303 76 48 13 14 14 13.67 33300 chr1 34238283 34238283 T C rs474474 CSMD2 Nonsynonymous SNV H578R 0.292 0.31 0.378 108 343 119 0.277 111 49 21 17 15 0.716 33301 chr8 118819578 118819578 C T rs7837891 EXT1 Synonymous SNV E587E 0.476 0.466 0.422 213 559 179 0.546 124 136 40 30 62 Benign 13.55 33302 chr9 35906519 35906519 G A rs79284865 HRCT1 Nonsynonymous SNV V79I 0.258 0.323 0.102 109 303 124 0.279 30 36 15 9 14 16.16 33303 chr19 39860539 39860539 G A rs143881112 SAMD4B Synonymous SNV L147L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.572 33304 chr8 118832020 118832020 G A rs17439693 EXT1 Synonymous SNV P477P 0.204 0.159 0.143 101 239 61 0.259 42 25 4 3 10 Benign 11.2 33305 chr19 49340746 49340746 T C rs34460869 PLEKHA4 Nonsynonymous SNV T714A 0.032 0.044 0.051 13 37 17 0.033 15 1 0 0 0 12.84 33306 chr19 39876646 39876646 A G rs145242944 PAF1 Nonsynonymous SNV I456T 0.003 0.01 0.014 1 4 4 0.003 4 0 0 0 0 4.499 33307 chr19 5222756 5222756 C T rs374799314 PTPRS Nonsynonymous SNV R994Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 21.9 33308 chr9 36105264 36105264 A G rs11788747 RECK Synonymous SNV P520P 0.395 0.339 0.405 150 464 130 0.385 119 93 27 24 24 9.053 33309 chr19 53086485 53086485 T C rs62117247 ZNF701 Synonymous SNV F391F 0.072 0.06 0.058 30 84 23 0.077 17 0 0 1 1 0.007 33310 chr8 119391866 119391866 G A rs12171673 SAMD12 Synonymous SNV H132H 0.175 0.172 0.173 72 206 66 0.185 51 13 6 4 5 10.1 33311 chr9 36110063 36110063 T A rs10972727 RECK Synonymous SNV R625R 0.387 0.326 0.388 142 454 125 0.364 114 87 25 23 21 11.69 33312 chr19 53116934 53117017 CCACACTCATTACATTTGTAAGGTTTCTCTCCAGTGTGGATTCTCTGATGTTGTGCAAGGTGTGAAATATGATGGAAGACCTTT - ZNF83 H271_F298del 0.145 0.133 0.136 55 170 51 0.141 40 8 2 2 3 33313 chr9 36169598 36169598 T C rs3739609 CCIN Synonymous SNV S33S 0.404 0.393 0.449 178 474 151 0.456 132 98 23 33 37 0.012 33314 chr19 49376594 49376594 G A rs761254662 PPP1R15A Nonsynonymous SNV R35H 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 22.9 33315 chr19 48715196 48715196 T C rs34632751 CARD8 Nonsynonymous SNV Q412R 0.015 0.008 0.007 3 18 3 0.008 2 0 0 0 0 9.232 33316 chr9 36674842 36674842 C T rs2274473 MELK Synonymous SNV N431N 0.884 0.917 0.861 341 1038 352 0.874 253 461 161 108 149 16.33 33317 chr19 52249702 52249702 G T rs2070746 FPR1 Synonymous SNV P182P 0.206 0.224 0.19 90 242 86 0.231 56 20 17 4 8 Benign 0.432 33318 chr9 36840623 36840623 G A rs3780135 PAX5 Nonsynonymous SNV T264I 0.919 0.935 0.823 362 1079 359 0.928 242 497 168 115 168 not provided 2.223 33319 chr19 48735017 48735017 - TT rs140826611 CARD8 Frameshift insertion V98Kfs*26 0.066 0.057 0.099 18 78 22 0.046 29 3 0 1 1 33320 chr19 52249942 52249942 A G rs28930680 FPR1 Synonymous SNV F102F 0.072 0.044 0.075 17 85 17 0.044 22 6 0 0 1 Benign 0.149 33321 chr19 53303527 53303527 A G rs8107444 ZNF28 Nonsynonymous SNV M471T 0.925 0.93 0.912 358 1086 357 0.918 268 501 166 126 163 0.6 33322 chr19 44501782 44501782 C T rs151250889 LOC101928063 0.014 0.003 0 4 16 1 0.01 0 0 0 0 0 6.779 33323 chr9 37429814 37429814 A G rs309458 GRHPR Synonymous SNV A193A 0.959 0.971 0.939 364 1126 373 0.933 276 540 181 129 169 Benign 9.484 33324 chr19 52249947 52249947 C G rs2070745 FPR1 Nonsynonymous SNV V101L 0.3 0.279 0.265 111 352 107 0.285 78 55 14 10 12 Benign 2.025 33325 chr19 51171857 51171857 G A rs3890180 SHANK1 Synonymous SNV P1120P 0.058 0.063 0.034 13 68 24 0.033 10 8 3 3 1 0.841 33326 chr9 37441650 37441650 T C rs17502738 ZBTB5 Nonsynonymous SNV D300G 0.213 0.247 0.201 90 250 95 0.231 59 24 12 8 12 22.5 33327 chr19 53303705 53303705 T G rs10417163 ZNF28 Nonsynonymous SNV K412Q 0.621 0.633 0.561 229 729 243 0.587 165 224 78 42 63 23.7 33328 chr19 51172526 51172526 G C rs41275782 SHANK1 Nonsynonymous SNV D897E 0.077 0.086 0.071 17 90 33 0.044 21 3 0 1 1 9.09 33329 chr8 120790304 120790304 T C rs1509348 TAF2 Synonymous SNV T773T 0.575 0.544 0.49 251 675 209 0.644 144 199 57 57 79 6.715 33330 chr19 44635822 44635822 G A rs62623665 ZNF225 Nonsynonymous SNV R352H 0.025 0.021 0.02 7 29 8 0.018 6 0 0 0 0 25.1 33331 chr19 53367338 53367338 G A rs4803014 ZNF320 Nonsynonymous SNV R100C 0.232 0.281 0.276 108 272 108 0.277 81 28 14 13 17 11.88 33332 chr9 37441808 37441808 A G rs309450 ZBTB5 Synonymous SNV D247D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 33333 chr19 49573363 49573365 GGA - rs10535426 KCNA7 P443del 0.09 0.096 0.112 26 106 37 0.067 33 5 4 1 2 33334 chr9 37503124 37503124 G A rs7047823 POLR1E Synonymous SNV K395K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 14.08 33335 chr1 35259946 35259946 G A rs1764389 GJA4 Synonymous SNV V44V 0.201 0.216 0.177 85 236 83 0.218 52 23 7 3 7 0.75 33336 chr19 44536577 44536577 T C rs140976613 ZNF222 Synonymous SNV I290I 0.018 0.005 0.014 4 21 2 0.01 4 0 0 0 0 1.693 33337 chr9 37521777 37521777 G A rs35979885 FBXO10 Synonymous SNV N663N 0.152 0.115 0.156 58 178 44 0.149 46 13 7 2 4 16.69 33338 chr19 52376507 52376507 T C rs2288868 ZNF577 Nonsynonymous SNV K246E 0.409 0.414 0.48 155 480 159 0.397 141 101 34 39 30 0.002 33339 chr19 53518178 53518178 C G rs140876268 ERVV-1 Nonsynonymous SNV P279A 0.098 0.096 0.007 41 115 37 0.105 2 0 0 0 0 2.682 33340 chr1 35260769 35260769 C T rs1764391 GJA4 Nonsynonymous SNV P319S 0.305 0.344 0.296 127 358 132 0.326 87 52 20 11 17 0.03 33341 chr9 37537557 37537557 G A rs7044153 FBXO10 Synonymous SNV A323A 0.699 0.727 0.687 282 821 279 0.723 202 293 102 68 103 5.701 33342 chr19 49573518 49573518 G A rs3810188 KCNA7 Synonymous SNV P391P 0.09 0.096 0.119 26 106 37 0.067 35 5 4 1 2 10.22 33343 chr19 53572059 53572059 T C rs78382850 ZNF160 Synonymous SNV Q576Q 0.071 0.096 0.054 31 83 37 0.079 16 2 1 0 1 0.022 33344 chr19 52376952 52376952 T A rs8107969 ZNF577 Synonymous SNV V97V 0.409 0.414 0.473 155 480 159 0.397 139 101 34 39 30 6.246 33345 chr8 120940652 120940652 C T rs16893299 DEPTOR Synonymous SNV H45H 0.3 0.318 0.327 124 352 122 0.318 96 49 17 15 21 15.34 33346 chr9 37592452 37592452 G A rs7021977 TOMM5 Synonymous SNV S26S 0.19 0.138 0.16 73 223 53 0.187 47 29 5 2 7 12.53 33347 chr19 53572494 53572494 G T rs11665677 ZNF160 Synonymous SNV G431G 0.277 0.276 0.282 103 325 106 0.264 83 38 13 13 11 0.157 33348 chr19 52468203 52468203 T A rs2278415 ZNF350 Nonsynonymous SNV R501S 0.132 0.128 0.126 53 155 49 0.136 37 11 3 1 2 21.4 33349 chr19 48806015 48806015 C T rs34540645 CCDC114 Synonymous SNV S355S 0.094 0.06 0.088 29 110 23 0.074 26 9 0 1 2 Benign 11.81 33350 chr9 37692654 37692654 A C rs3747539 FRMPD1 Nonsynonymous SNV T6P 0.206 0.182 0.18 72 242 70 0.185 53 18 6 7 4 11.23 33351 chr19 53572917 53572917 G A rs10407463 ZNF160 Synonymous SNV C290C 0.152 0.159 0.136 50 179 61 0.128 40 8 5 3 4 3.902 33352 chr19 4013262 4013262 C T rs144565099 PIAS4 Synonymous SNV P123P 0.004 0.005 0.003 6 5 2 0.015 1 0 0 0 1 Benign 13.17 33353 chr19 49575304 49575304 G A rs77059600 KCNA7 Nonsynonymous SNV A180V 0.093 0.099 0.122 27 109 38 0.069 36 5 4 2 2 7.807 33354 chr19 53576662 53576662 G A rs141468198 ZNF160 Synonymous SNV L124L 0.004 0.013 0.003 3 5 5 0.008 1 0 0 0 0 4.038 33355 chr19 52468587 52468587 G T rs3764538 ZNF350 Synonymous SNV P373P 0.132 0.128 0.126 53 155 49 0.136 37 11 3 1 2 0.142 33356 chr8 121061879 121061879 G A rs4871827 DEPTOR Nonsynonymous SNV S288N 0.365 0.354 0.415 151 428 136 0.387 122 82 25 22 27 21.9 33357 chr9 37729786 37729786 C T rs1359590 FRMPD1 Nonsynonymous SNV A225V 0.253 0.247 0.241 87 297 95 0.223 71 28 12 10 7 11.08 33358 chr19 52468998 52468998 A G rs4988334 ZNF350 Synonymous SNV C236C 0.135 0.133 0.15 54 159 51 0.138 44 11 3 1 3 0.018 33359 chr19 49575618 49575618 A G rs71352730 KCNA7 Synonymous SNV G75G 0.093 0.099 0.112 27 109 38 0.069 33 5 4 2 2 14.21 33360 chr19 52471872 52471872 A G rs2278420 ZNF350 Nonsynonymous SNV L66P 0.154 0.146 0.17 58 181 56 0.149 50 12 4 3 3 0.002 33361 chr1 3644715 3644715 C T rs12046074 TP73 Synonymous SNV A287A 0.064 0.068 0.065 26 75 26 0.067 19 1 1 1 0 10.77 33362 chr8 121210069 121210069 T C rs2305598 COL14A1 Synonymous SNV G204G 0.511 0.497 0.517 209 600 191 0.536 152 157 50 42 52 2.727 33363 chr19 53611802 53611802 T G rs61733666 ZNF415 Nonsynonymous SNV N269T 0.071 0.081 0.071 19 83 31 0.049 21 5 1 0 1 6.373 33364 chr9 37735680 37735680 G A rs61740795 FRMPD1 Synonymous SNV T450T 0.19 0.19 0.228 79 223 73 0.203 67 26 11 7 7 8.292 33365 chr1 3644754 3644754 T C rs12048341 TP73 Synonymous SNV H300H 0.069 0.07 0.071 27 81 27 0.069 21 1 1 1 0 0.015 33366 chr8 121215991 121215991 T C rs2305600 COL14A1 Synonymous SNV S307S 0.52 0.497 0.52 206 611 191 0.528 153 162 50 41 52 0.071 33367 chr9 37740637 37740637 T C rs2281872 FRMPD1 Synonymous SNV A704A 0.642 0.581 0.667 255 754 223 0.654 196 244 68 66 82 0.026 33368 chr1 3649403 3649403 G A rs61735051 TP73 Synonymous SNV A427A 0.064 0.065 0.065 25 75 25 0.064 19 1 1 1 0 7.457 33369 chr19 52472295 52472295 A G rs4986773 ZNF350 Synonymous SNV D35D 0.27 0.242 0.316 99 317 93 0.254 93 37 13 15 10 0.004 33370 chr19 44832693 44832693 T C rs61733037 ZNF112 Synonymous SNV R478R 0.032 0.021 0.031 9 37 8 0.023 9 0 0 0 0 0.599 33371 chr1 3649562 3649562 G A rs9662633 TP73 Synonymous SNV A480A 0.07 0.068 0.071 26 82 26 0.067 21 1 1 1 0 7.379 33372 chr9 37745413 37745413 G A rs3747541 FRMPD1 Synonymous SNV E1128E 0.364 0.341 0.374 151 427 131 0.387 110 80 25 26 31 2.208 33373 chr8 121228679 121228679 A C rs4870723 COL14A1 Nonsynonymous SNV N563H 0.507 0.497 0.517 202 595 191 0.518 152 158 50 42 49 0.45 33374 chr19 52496149 52496149 C T rs16983353 ZNF615 Nonsynonymous SNV R732K 0.296 0.279 0.337 119 347 107 0.305 99 52 17 16 12 11.11 33375 chr9 37782111 37782111 C T rs7158 EXOSC3 Synonymous SNV Q166Q 0.469 0.445 0.48 193 551 171 0.495 141 136 41 35 46 Benign 10.38 33376 chr1 3659657 3659657 G A rs2298222 TP73-AS1 0 0 0.289 0 0 0 0 85 0 0 12 0 6.403 33377 chr19 52497250 52497250 G A rs1978717 ZNF615 Nonsynonymous SNV T365I 0.296 0.279 0.337 120 347 107 0.308 99 52 17 16 12 0.001 33378 chr1 3659742 3659742 C T rs2298223 TP73-AS1 0 0 0.061 0 0 0 0 18 0 0 1 0 8.415 33379 chr9 38068532 38068532 A G rs3750444 SHB Synonymous SNV P37P 0.676 0.674 0.585 277 794 259 0.71 172 288 96 61 104 1.136 33380 chr19 49657713 49657713 - CAT HRC D261_V262insD 0.039 0.042 0 8 46 16 0.021 0 0 0 0 0 33381 chr1 3662845 3662845 A G rs3737589 TP73-AS1 0 0 0.384 0 0 0 0 113 0 0 25 0 6.022 33382 chr9 38395928 38395928 C T rs2073477 ALDH1B1 Synonymous SNV T61T 0.104 0.091 0.146 46 122 35 0.118 43 6 2 5 3 Benign 3.084 33383 chr19 49658084 49658084 G A rs57897109 HRC Synonymous SNV H137H 0.037 0.052 0.044 20 43 20 0.051 13 1 0 1 0 0.495 33384 chr19 52497943 52497943 G A rs10500311 ZNF615 Nonsynonymous SNV T134M 0.298 0.279 0.337 119 350 107 0.305 99 52 17 16 12 2.013 33385 chr8 124138855 124138855 G A rs16898012 TBC1D31 Synonymous SNV L104L 0.296 0.258 0.286 120 347 99 0.308 84 43 13 10 17 10.67 33386 chr9 38395940 38395940 T C rs2228094 ALDH1B1 Synonymous SNV I65I 0.949 0.945 0.922 367 1114 363 0.941 271 532 171 126 172 Benign 0.031 33387 chr8 124138891 124138891 G A rs16898013 TBC1D31 Synonymous SNV T116T 0.061 0.057 0.041 28 72 22 0.072 12 3 0 1 0 9.343 33388 chr19 53644443 53644443 G A rs1661935 ZNF347 Synonymous SNV C547C 0.077 0.055 0.065 38 90 21 0.097 19 5 1 0 2 7.705 33389 chr9 38396002 38396002 C T rs2228093 ALDH1B1 Nonsynonymous SNV A86V 0.107 0.094 0.146 47 126 36 0.121 43 6 3 4 4 Benign 28.5 33390 chr8 124140634 124140634 T C rs2385167 TBC1D31 Synonymous SNV F166F 0.061 0.057 0.041 28 72 22 0.072 12 3 0 1 0 2.804 33391 chr19 52537576 52537576 T G rs11666149 ZNF432 Synonymous SNV T452T 0.354 0.339 0.395 139 416 130 0.356 116 75 21 29 25 4.057 33392 chr8 124142489 124142489 T C rs2272724 TBC1D31 Synonymous SNV D274D 0.346 0.313 0.333 136 406 120 0.349 98 66 19 15 20 0.071 33393 chr19 52538428 52538428 A G rs11881700 ZNF432 Synonymous SNV G168G 0.165 0.133 0.204 66 194 51 0.169 60 15 3 6 4 0.003 33394 chr9 38396502 38396502 G A rs4878199 ALDH1B1 Nonsynonymous SNV V253M 0.946 0.943 0.922 367 1111 362 0.941 271 529 170 126 172 Benign 0.006 33395 chr8 124525483 124525483 C T rs3739287 FBXO32 Synonymous SNV T57T 0.113 0.091 0.068 38 133 35 0.097 20 6 2 2 0 17.67 33396 chr19 52570714 52570714 C G rs16983412 ZNF841 Nonsynonymous SNV V25L 0.164 0.138 0.211 67 193 53 0.172 62 15 3 6 4 0.054 33397 chr1 36807452 36807452 G A rs3795499 STK40 Synonymous SNV F409F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.396 33398 chr19 49132867 49132867 G C rs61751862 SPHK2 Nonsynonymous SNV G565A 0.014 0.016 0.01 8 17 6 0.021 3 0 0 0 0 13.38 33399 chr9 38424344 38424344 A G rs35134904 IGFBPL1 Synonymous SNV L26L 0.26 0.281 0.126 112 305 108 0.287 37 43 13 11 13 1.6 33400 chr19 49671281 49671281 G A rs34333830 TRPM4 Synonymous SNV S125S 0.039 0.057 0.048 20 46 22 0.051 14 1 2 1 0 Benign/Likely benign 9.314 33401 chr19 52570783 52570783 A G rs16983414 ZNF841 Synonymous SNV L2L 0.164 0.138 0.211 67 193 53 0.172 62 15 3 6 4 2.598 33402 chr9 71094417 71094417 G A PGM5 Nonsynonymous SNV E415K 0 0 0 0 0 0 0 0 0 0 0 0 26.4 33403 chr19 49675017 49675017 G T rs61732831 TRPM4 Synonymous SNV L64L 0.026 0.039 0.02 12 31 15 0.031 6 1 0 0 0 Benign 7.808 33404 chr19 44681176 44681176 C A rs773252890 ZNF226 Stop gain Y587X 0.004 0.018 0 4 5 7 0.01 0 0 0 0 0 38 33405 chr19 53762675 53762675 G A rs61734062 VN1R2 Synonymous SNV V349V 0.032 0.047 0.014 13 37 18 0.033 4 0 1 0 1 2.028 33406 chr19 49699866 49699866 C T rs3745301 TRPM4 Synonymous SNV L440L 0.047 0.065 0.054 24 55 25 0.062 16 2 1 0 0 Benign/Likely benign 13.52 33407 chr9 71650752 71650752 A G rs2481598 FXN Synonymous SNV P18P 0.997 0.995 0.874 387 1170 382 0.992 257 585 191 128 193 Benign 0.461 33408 chr19 44681222 44681222 A C ZNF226 Nonsynonymous SNV K603Q 0.004 0.018 0 4 5 7 0.01 0 0 0 0 0 15.25 33409 chr9 71843023 71843023 C A rs2309428 TJP2 Nonsynonymous SNV D486E 0.77 0.792 0.796 323 904 304 0.828 234 355 121 94 135 Benign 0.048 33410 chr19 53848812 53848812 G A rs111757330 ZNF845 Synonymous SNV K23K 0.033 0.042 0.037 7 39 16 0.018 11 0 1 1 0 Likely benign 0.302 33411 chr9 72472831 72472831 C T rs10780682 C9orf135 Synonymous SNV T30T 0.404 0.401 0.337 163 474 154 0.418 99 96 30 18 34 10.95 33412 chr19 5273571 5273571 T G rs1141371 PTPRS Synonymous SNV A87A 0.269 0.281 0.31 118 316 108 0.303 91 54 13 14 9 5.475 33413 chr19 49261267 49261267 C T rs3745710 FGF21 Synonymous SNV H140H 0.063 0.039 0.065 25 74 15 0.064 19 1 0 0 1 7.033 33414 chr1 36937065 36937065 A G rs3917980 CSF3R Synonymous SNV R418R 0.36 0.367 0.452 150 423 141 0.385 133 77 32 25 28 Benign 0.646 33415 chr9 72741247 72741247 C T rs2296772 MAMDC2 Synonymous SNV Y272Y 0.106 0.117 0.092 50 125 45 0.128 27 5 2 1 3 10.1 33416 chr8 125035788 125035788 G C rs4358790 FER1L6 Synonymous SNV A746A 0.565 0.549 0.531 225 663 211 0.577 156 192 57 42 69 5.797 33417 chr9 72741298 72741298 G A rs2296773 MAMDC2 Synonymous SNV A289A 0.106 0.117 0.092 50 125 45 0.128 27 5 2 1 3 8.704 33418 chr1 3703589 3703589 C T rs138729139 LRRC47 Nonsynonymous SNV V301M 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 20.9 33419 chr8 125061895 125061895 G A rs4870887 FER1L6 Synonymous SNV K924K 0.521 0.49 0.473 204 612 188 0.523 139 157 47 32 51 8.169 33420 chr19 53885026 53885026 T C rs61741918 ZNF525 Synonymous SNV L398L 0.083 0.102 0.054 38 97 39 0.097 16 5 2 0 2 0.081 33421 chr9 72741312 72741312 G A rs1998972 MAMDC2 Nonsynonymous SNV S294N 0.967 0.977 0.932 380 1135 375 0.974 274 548 184 128 185 13.97 33422 chr9 72755129 72755131 AAA - rs61609258 MAMDC2 K355del 0.109 0.117 0.092 51 128 45 0.131 27 6 2 1 3 33423 chr9 72790705 72790705 C T rs1927137 MAMDC2 Synonymous SNV V560V 0.658 0.659 0 263 772 253 0.674 0 246 83 0 97 11.69 33424 chr19 54307322 54307322 G T rs12460528 NLRP12 Synonymous SNV L824L 0.095 0.104 0.065 38 111 40 0.097 19 6 1 2 1 Benign 6.375 33425 chr9 72897434 72897434 G A rs1180116 SMC5 Nonsynonymous SNV V306I 0.871 0.87 0.874 340 1023 334 0.872 257 453 147 115 150 3.315 33426 chr19 54327313 54327313 C A rs34436714 NLRP12 Nonsynonymous SNV G39V 0.192 0.182 0.143 77 225 70 0.197 42 19 2 2 7 Benign 24.4 33427 chr19 49339623 49339623 C A rs113246661 HSD17B14 Nonsynonymous SNV G16W 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 35 33428 chr9 72897440 72897440 T C rs1180117 SMC5 Nonsynonymous SNV C308R 0.188 0.172 0.187 71 221 66 0.182 55 16 6 3 7 0.103 33429 chr9 73150984 73150984 C T rs6560142 TRPM3 Nonsynonymous SNV R1507Q 0.591 0.547 0.531 220 694 210 0.564 156 209 58 46 68 32 33430 chr8 128099242 128099242 C A rs13257371 PRNCR1 0.283 0.276 0.337 125 332 106 0.321 99 44 16 17 23 14.04 33431 chr19 49376582 49376582 G A rs564196 PPP1R15A Nonsynonymous SNV R31H 0.164 0.138 0.18 69 192 53 0.177 53 18 1 4 9 23.6 33432 chr8 128099455 128099455 G C rs1840709 PRNCR1 0.635 0.635 0.575 266 745 244 0.682 169 223 83 66 91 12.21 33433 chr9 73151715 73151715 C T rs7033976 TRPM3 Synonymous SNV L1263L 0.894 0.885 0.878 338 1049 340 0.867 258 466 151 114 147 4.991 33434 chr19 51530741 51530741 C G rs61752567 KLK11 Nonsynonymous SNV K11N 0.059 0.044 0.054 20 69 17 0.051 16 3 1 1 3 17.19 33435 chr1 38149076 38149076 G A rs34250208 C1orf109 Nonsynonymous SNV P228S 0.121 0.109 0.109 48 142 42 0.123 32 5 3 1 5 9.177 33436 chr8 130760850 130760850 A G rs4144738 GSDMC Nonsynonymous SNV M475T 0.453 0.464 0.422 177 532 178 0.454 124 119 39 25 38 23.2 33437 chr19 49377086 49377086 T C rs611251 PPP1R15A Nonsynonymous SNV V199A 0.166 0.135 0.177 70 195 52 0.179 52 18 1 4 9 0.138 33438 chr9 73151970 73151970 C T rs3739776 TRPM3 Synonymous SNV S1178S 0.583 0.547 0.531 218 684 210 0.559 156 206 61 46 68 6.796 33439 chr9 73255554 73255554 G A rs12351775 TRPM3 Synonymous SNV D456D 0.046 0.029 0.041 14 54 11 0.036 12 2 0 2 1 9.534 33440 chr19 54556177 54556177 A T rs148825612 VSTM1 Nonsynonymous SNV C23S 0.026 0.042 0 15 31 16 0.038 0 6 2 0 2 0.303 33441 chr1 38227086 38227086 A T rs4653328 EPHA10 Nonsynonymous SNV F281I 0.17 0.185 0.17 63 200 71 0.162 50 19 3 6 6 2.492 33442 chr9 73458045 73458045 - A rs3833697 TRPM3 0.591 0.573 0.639 237 694 220 0.608 188 262 86 59 88 33443 chr9 73461337 73461337 T A rs7862440 TRPM3 Synonymous SNV A58A 0.63 0.586 0.605 238 740 225 0.61 178 226 68 55 67 11.45 33444 chr9 74332970 74332970 G A rs25692 CEMIP2 Nonsynonymous SNV P702S 0.112 0.109 0.136 61 131 42 0.156 40 10 3 4 5 22.1 33445 chr19 5455976 5455976 C T rs61740902 ZNRF4 Synonymous SNV I158I 0.261 0.266 0.224 110 307 102 0.282 66 41 17 5 14 10.37 33446 chr1 38411445 38411445 G A rs871524 INPP5B Nonsynonymous SNV T56M 0.208 0.237 0.204 81 244 91 0.208 60 25 15 6 8 2.952 33447 chr9 74975136 74975136 T C rs2809270 ZFAND5 Synonymous SNV G51G 0.997 0.997 0.976 389 1171 383 0.997 287 584 191 143 194 7.283 33448 chr19 52888074 52888074 - AT rs779596445 ZNF880 Frameshift insertion K415Sfs*15 0.056 0.057 0.02 16 66 22 0.041 6 0 0 0 0 33449 chr19 4488811 4488811 G A rs367904154 HDGFL2 Nonsynonymous SNV D143N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 33450 chr19 40947532 40947532 C T rs147438357 SERTAD3 Synonymous SNV L152L 0.025 0.031 0.014 5 29 12 0.013 4 0 0 0 0 12.54 33451 chr19 52888076 52888076 - TGAGGTCAGGAGATCGAGACCATCCTGGCT rs777032228 ZNF880 Stop gain K415_R577delinsMRSGDRDHPG 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 33452 chr9 75303653 75303653 C T rs2589615 TMC1 Synonymous SNV D15D 0.424 0.419 0.473 180 498 161 0.462 139 119 37 33 39 Benign 12.72 33453 chr9 75431076 75431076 C T rs34532421 TMC1 Synonymous SNV F571F 0.123 0.091 0.122 55 144 35 0.141 36 8 1 1 4 Benign/Likely benign 14.46 33454 chr1 39325136 39325136 C T rs112925356 RRAGC Synonymous SNV K61K 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 14.86 33455 chr19 51769106 51769106 C T rs149546733 SIGLECL1 Nonsynonymous SNV A33V 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 16.76 33456 chr19 50040348 50040348 C T rs141528253 RCN3 Synonymous SNV D168D 0.009 0.018 0.003 7 11 7 0.018 1 0 0 0 0 18.3 33457 chr9 77407636 77407636 C T rs4145894 TRPM6 Synonymous SNV Q809Q 0.186 0.188 0.146 82 218 72 0.21 43 18 7 4 9 Benign 4.719 33458 chr19 54573301 54573301 G A rs77768804 TARM1 Nonsynonymous SNV R258W 0.022 0.036 0.02 14 26 14 0.036 6 0 0 0 0 24 33459 chr8 133880436 133880436 C T rs114436500 TG Synonymous SNV Y48Y 0.009 0.008 0.007 10 10 3 0.026 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.72 33460 chr9 77415284 77415284 A C rs7859201 TRPM6 Synonymous SNV L703L 0.362 0.346 0.408 163 425 133 0.418 120 76 16 22 31 Benign 0.923 33461 chr19 54578105 54578105 C T rs80087697 TARM1 Nonsynonymous SNV R111H 0.022 0.036 0.02 14 26 14 0.036 6 0 0 0 0 1.186 33462 chr9 77436641 77436641 G A rs7018994 TRPM6 Synonymous SNV G313G 0.347 0.357 0.286 170 407 137 0.436 84 77 20 12 32 Benign 6.681 33463 chr19 50155970 50155970 G A rs182682442 SCAF1 Nonsynonymous SNV G775E 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 0.012 33464 chr9 77502160 77502160 G A rs1333342 TRPM6 Nonsynonymous SNV T2I 0.32 0.336 0.354 159 376 129 0.408 104 84 27 23 39 10.53 33465 chr19 54599229 54599229 C T rs61742142 OSCAR Nonsynonymous SNV R177H 0.067 0.047 0.082 14 79 18 0.036 24 5 1 1 0 15.77 33466 chr9 77563087 77563087 C T rs2769058 C9orf40 Synonymous SNV Q154Q 0.338 0.297 0.354 133 397 114 0.341 104 70 15 17 22 13.34 33467 chr19 50204843 50204843 G A rs12973248 CPT1C Synonymous SNV S215S 0.163 0.182 0.173 54 191 70 0.138 51 21 7 4 6 16.18 33468 chr9 77684690 77684690 A C rs3752955 NMRK1 Synonymous SNV T119T 0.624 0.594 0.622 258 733 228 0.662 183 225 70 53 92 0.01 33469 chr19 50209653 50209653 C T rs12978911 CPT1C Synonymous SNV A442A 0.169 0.19 0.129 57 198 73 0.146 38 21 7 3 6 11.9 33470 chr9 78773953 78773953 G A rs2297342 PCSK5 Synonymous SNV S495S 0.212 0.242 0.255 89 249 93 0.228 75 20 15 10 10 13.34 33471 chr1 39879412 39879412 G C rs55976345 KIAA0754 Nonsynonymous SNV A1159P 0.014 0.018 0.048 5 16 7 0.013 14 0 0 1 0 13.06 33472 chr19 49391404 49391404 C T rs8112811 TULP2 Nonsynonymous SNV D251N 0.151 0.115 0.139 49 177 44 0.126 41 13 2 2 3 0.027 33473 chr8 133981746 133981746 G A rs17693031 TG Synonymous SNV P1969P 0.026 0.026 0.017 15 31 10 0.038 5 0 1 0 0 Likely benign 7.57 33474 chr9 78910241 78910241 A C rs2842480 PCSK5 Nonsynonymous SNV E1079A 0.274 0.297 0.235 122 322 114 0.313 69 52 20 6 19 3.732 33475 chr19 50312048 50312048 G A rs11557714 FUZ Synonymous SNV D237D 0.047 0.055 0.068 23 55 21 0.059 20 1 1 2 0 10.16 33476 chr19 49400634 49400634 C T rs7260579 TULP2 Nonsynonymous SNV A18T 0.144 0.102 0.139 49 169 39 0.126 41 14 0 2 3 10.35 33477 chr9 78910273 78910273 G A rs2643325 PCSK5 Nonsynonymous SNV G1090S 0.274 0.297 0.235 122 322 114 0.313 69 52 20 6 19 14.02 33478 chr8 134024278 134024278 C T rs61741457 TG Nonsynonymous SNV S2132L 0.061 0.068 0.051 23 72 26 0.059 15 1 3 0 0 Benign 0.215 33479 chr19 54664044 54664044 C T rs3170255 TMC4 Synonymous SNV X713X 0.048 0.057 0.027 17 56 22 0.044 8 1 0 0 0 9.56 33480 chr19 51917735 51917735 G A rs1974821 SIGLEC10 Synonymous SNV N307N 0.147 0.159 0.136 58 173 61 0.149 40 13 7 3 3 5.101 33481 chr9 78936358 78936358 G A rs1110222 PCSK5 Nonsynonymous SNV G1275D 0.274 0.328 0.337 126 322 126 0.323 99 54 24 11 19 3.227 33482 chr8 134108453 134108453 C T rs2069568 TG Synonymous SNV L2470L 0.447 0.422 0.497 193 525 162 0.495 146 110 37 37 45 Benign 13.97 33483 chr1 40150156 40150156 G A rs9662128 HPCAL4 Synonymous SNV S40S 0.304 0.323 0.364 106 357 124 0.272 107 51 19 19 16 14.3 33484 chr9 78936492 78936492 A G rs1110223 PCSK5 Nonsynonymous SNV K1320E 0.277 0.328 0.337 125 325 126 0.321 99 54 24 11 19 8.974 33485 chr19 51920619 51920619 G C rs61741679 SIGLEC10 Synonymous SNV P46P 0.045 0.047 0.037 16 53 18 0.041 11 4 1 0 1 1.442 33486 chr8 134125682 134125682 G A rs1133076 TG Nonsynonymous SNV R2530Q 0.457 0.438 0.551 195 537 168 0.5 162 117 41 44 46 Benign 19.72 33487 chr1 40349131 40349131 G A rs3845570 TRIT1 Synonymous SNV P11P 0.349 0.385 0.364 157 410 148 0.403 107 73 26 21 30 11.8 33488 chr19 51920850 51920850 C T rs3810102 LOC100129083 0.042 0.047 0 17 49 18 0.044 0 4 1 0 1 7.106 33489 chr9 78937974 78937974 C T rs3001772 PCSK5 Nonsynonymous SNV T1343M 0.455 0.523 0.541 208 534 201 0.533 159 135 58 38 50 23.4 33490 chr19 51957482 51957482 C T rs61735205 SIGLEC8 Synonymous SNV S319S 0.024 0.018 0.02 17 28 7 0.044 6 2 0 1 0 11.45 33491 chr8 134144113 134144113 C T rs2294024 TG Synonymous SNV Y2640Y 0.483 0.508 0.561 198 567 195 0.508 165 129 49 45 48 Benign 13.75 33492 chr19 51957493 51957493 T C rs140402033 SIGLEC8 Nonsynonymous SNV I316V 0.01 0.008 0.003 2 12 3 0.005 1 1 0 0 0 0.001 33493 chr8 134239770 134239770 T C rs3739261 CCN4 X156Q 0.337 0.331 0.316 109 396 127 0.279 93 61 16 17 14 0.195 33494 chr9 78938043 78938043 G A rs2495207 PCSK5 Nonsynonymous SNV R1366H 0.279 0.331 0.34 128 327 127 0.328 100 53 24 11 22 12.86 33495 chr19 51957494 51957494 G A rs145509825 SIGLEC8 Synonymous SNV A315A 0.01 0.008 0.003 2 12 3 0.005 1 1 0 0 0 1.53 33496 chr9 78938186 78938186 G C rs2803429 PCSK5 Nonsynonymous SNV E1414Q 0.277 0.333 0.344 128 325 128 0.328 101 54 25 12 23 0.002 33497 chr19 53075519 53075519 G T rs8104138 ZNF701 Nonsynonymous SNV D9Y 0.4 0.422 0.136 159 470 162 0.408 40 85 31 12 29 13.12 33498 chr19 51957497 51957497 C G rs147729418 SIGLEC8 Nonsynonymous SNV K314N 0.01 0.008 0.003 2 12 3 0.005 1 1 0 0 0 0.001 33499 chr19 45176028 45176028 C T rs35695969 CEACAM19 Synonymous SNV Y72Y 0.057 0.049 0.051 23 67 19 0.059 15 0 0 1 0 8.331 33500 chr8 135602581 135602581 A G rs3739425 ZFAT Synonymous SNV S769S 0.135 0.135 0.17 72 158 52 0.185 50 10 4 2 6 8.152 33501 chr9 78942956 78942956 A G rs2259969 PCSK5 Synonymous SNV S1430S 0.485 0.549 0.585 215 569 211 0.551 172 144 62 45 56 0.525 33502 chr19 51957503 51957503 A G rs141020441 SIGLEC8 Synonymous SNV D312D 0.01 0.008 0.003 2 12 3 0.005 1 1 0 0 0 0.012 33503 chr9 78969059 78969059 C A rs7036921 PCSK5 Nonsynonymous SNV D1699E 0.336 0.32 0.333 150 394 123 0.385 98 65 22 20 28 0.198 33504 chr19 51957506 51957506 T C rs149859818 SIGLEC8 Synonymous SNV E311E 0.01 0.008 0.003 2 12 3 0.005 1 1 0 0 0 0.002 33505 chr19 54754737 54754737 G A rs7256245 LILRB5 Synonymous SNV L463L 0.02 0.039 0.024 10 24 15 0.026 7 1 1 0 0 0.235 33506 chr9 79003516 79003516 C G rs10781358 RFK Synonymous SNV V97V 0.179 0.185 0.228 67 210 71 0.172 67 21 7 8 8 9.273 33507 chr9 79118400 79118400 C T rs147866228 GCNT1 Nonsynonymous SNV P368L 0.021 0.016 0.027 17 25 6 0.044 8 1 0 0 0 23 33508 chr19 51993856 51993856 A G CEACAM18 Synonymous SNV P374P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 33509 chr19 50771609 50771609 G A rs3745504 MYH14 Synonymous SNV L965L 0.481 0.474 0.459 195 565 182 0.5 135 133 37 27 53 Benign 10.6 33510 chr9 79318376 79318390 GTGACAGCCTGCAAC - rs11267615 PRUNE2 L2714_T2718del 0.802 0.792 0.844 307 942 304 0.787 248 379 119 107 119 33511 chr9 79318471 79318471 C T rs560094 PRUNE2 Synonymous SNV L2686L 0.802 0.792 0.844 307 942 304 0.787 248 379 119 107 119 14.77 33512 chr8 139149406 139149406 G A rs6577876 FAM135B Synonymous SNV L1333L 0.301 0.339 0.337 89 353 130 0.228 99 43 23 19 11 9.749 33513 chr1 40702231 40702231 A G rs17508704 RLF Synonymous SNV L619L 0.019 0.01 0.01 4 22 4 0.01 3 0 0 0 0 0.548 33514 chr19 54755962 54755962 G A rs7248556 LILRB5 Synonymous SNV A428A 0.02 0.039 0.024 10 24 15 0.026 7 1 1 0 0 6.404 33515 chr9 79318677 79318677 T C rs561970 PRUNE2 Nonsynonymous SNV S2618G 0.803 0.792 0.844 307 943 304 0.787 248 379 119 107 119 0.001 33516 chr1 40961449 40961449 T C rs3795348 ZFP69 Synonymous SNV H434H 0.056 0.055 0.048 14 66 21 0.036 14 2 0 1 1 0.048 33517 chr9 79318921 79318921 A G rs620985 PRUNE2 Synonymous SNV C2536C 0.712 0.711 0.694 278 836 273 0.713 204 299 100 71 94 0.214 33518 chr9 79318998 79318998 A G rs620552 PRUNE2 Nonsynonymous SNV S2511P 0.801 0.792 0.83 307 940 304 0.787 244 379 119 106 119 13.12 33519 chr19 54848684 54848684 G A rs8105624 LILRA4 Synonymous SNV D313D 0.203 0.206 0.105 89 238 79 0.228 31 24 6 1 12 7.072 33520 chr1 40981230 40981230 G A rs3795344 EXO5 Synonymous SNV E338E 0.056 0.055 0.048 14 66 21 0.036 14 2 0 1 1 3.697 33521 chr19 49926562 49926562 A C rs144508742 PTH2 Nonsynonymous SNV V12G 0.005 0.01 0 0 6 4 0 0 0 0 0 0 23.9 33522 chr1 40981245 40981245 - G rs150018949 EXO5 Frameshift insertion R344Afs*10 0.037 0.034 0.02 6 43 13 0.015 6 2 0 0 0 33523 chr19 54849942 54849942 G A rs2241384 LILRA4 Nonsynonymous SNV P27L 0.162 0.151 0.194 65 190 58 0.167 57 15 4 2 8 0.096 33524 chr19 4511575 4511575 C G rs62115185 PLIN4 Synonymous SNV V799V 0.082 0.063 0.02 23 96 24 0.059 6 0 0 0 0 1.46 33525 chr9 79320640 79320640 C T rs512110 PRUNE2 Nonsynonymous SNV A2184T 0.801 0.789 0.844 307 940 303 0.787 248 376 118 107 119 7.058 33526 chr1 41300682 41300682 C T rs55925184 KCNQ4 Synonymous SNV L499L 0.05 0.081 0.061 17 59 31 0.044 18 1 2 1 1 Benign 15.88 33527 chr19 4511578 4511578 A G rs62115186 PLIN4 Synonymous SNV A798A 0.078 0.057 0.02 21 91 22 0.054 6 0 0 0 0 0.008 33528 chr1 41327281 41327281 C A rs1057635 CITED4 Nonsynonymous SNV L173F 0.042 0.055 0.048 14 49 21 0.036 14 0 1 0 0 7.02 33529 chr19 4511580 4511580 C T rs78884463 PLIN4 Nonsynonymous SNV A798T 0.067 0.049 0.02 18 79 19 0.046 6 0 0 0 0 0.003 33530 chr9 79321276 79321276 T C rs517634 PRUNE2 Nonsynonymous SNV T1972A 0.803 0.792 0.844 307 943 304 0.787 248 379 119 107 119 0.007 33531 chr1 41848060 41848060 C T rs12092825 FOXO6 Nonsynonymous SNV A396V 0.473 0.497 0.486 191 555 191 0.49 143 150 57 41 61 21.1 33532 chr9 79321871 79321871 C T rs577993 PRUNE2 Synonymous SNV T1773T 0.734 0.74 0.745 291 862 284 0.746 219 315 106 81 105 10.56 33533 chr19 4511581 4511581 A G rs75029810 PLIN4 Synonymous SNV D797D 0.066 0.052 0.02 18 77 20 0.046 6 0 0 0 0 0.029 33534 chr9 79322068 79322068 G T rs683866 PRUNE2 Nonsynonymous SNV H1708N 0.716 0.719 0.714 281 840 276 0.721 210 302 101 74 96 12.83 33535 chr19 46002007 46002007 C T rs140525169 PPM1N Nonsynonymous SNV P93S 0.004 0.005 0.003 6 5 2 0.015 1 0 0 0 0 14.5 33536 chr1 41976217 41976217 G A rs72669005 HIVEP3 Nonsynonymous SNV P2375S 0.073 0.052 0.051 25 86 20 0.064 15 2 0 1 0 Benign 16.47 33537 chr19 50957604 50957604 C T rs25666 MYBPC2 Synonymous SNV Y664Y 0.014 0.016 0.02 4 16 6 0.01 6 0 0 0 0 7.21 33538 chr9 79322674 79322674 A G rs680775 PRUNE2 Nonsynonymous SNV C1506R 0.802 0.792 0.844 308 942 304 0.79 248 379 119 107 119 9.448 33539 chr8 141559358 141559358 G A rs2292781 AGO2 Synonymous SNV A481A 0.373 0.328 0.381 146 438 126 0.374 112 83 20 22 26 14.39 33540 chr8 141566311 141566311 C T rs2271738 AGO2 Synonymous SNV A367A 0.347 0.302 0.313 135 407 116 0.346 92 76 15 16 24 18 33541 chr9 79322720 79322720 A G rs680729 PRUNE2 Synonymous SNV D1490D 0.802 0.792 0.844 308 942 304 0.79 248 379 119 107 119 0.013 33542 chr19 53345321 53345321 T G rs8100893 ZNF468 Nonsynonymous SNV Q115P 0.089 0.104 0.088 40 105 40 0.103 26 6 2 2 1 0.813 33543 chr19 53348505 53348505 G A rs62117473 ZNF468 Nonsynonymous SNV R63C 0.257 0.219 0.129 87 302 84 0.223 38 48 7 6 13 0.15 33544 chr9 79324135 79324135 - TGACTGTTGCAG rs11267622 PRUNE2 S1018_S1019insLQQS 0.716 0.721 0.714 281 840 277 0.721 210 302 101 74 96 33545 chr9 79324179 79324179 G A rs530978 PRUNE2 Nonsynonymous SNV T1004M 0.712 0.711 0.694 278 836 273 0.713 204 299 100 71 94 17.73 33546 chr8 142200467 142200467 G A rs1045303 DENND3 Synonymous SNV P1110P 0.285 0.266 0.286 99 335 102 0.254 84 47 16 13 14 Uncertain significance 5.798 33547 chr9 79324741 79324741 T C rs557352 PRUNE2 Nonsynonymous SNV N817D 0.712 0.711 0.694 279 836 273 0.715 204 299 100 71 95 8.504 33548 chr19 53391420 53391420 T C rs200522655 ZNF320 Synonymous SNV R34R 0.194 0.195 0.201 75 228 75 0.192 59 0 0 0 0 0.022 33549 chr8 142202856 142202856 C T rs6990186 DENND3 Nonsynonymous SNV R1244C 0.464 0.419 0.463 171 545 161 0.438 136 131 35 31 39 1.846 33550 chr9 79325558 79325558 G C rs600859 PRUNE2 Synonymous SNV T544T 0.716 0.721 0.714 281 840 277 0.721 210 302 101 74 96 0.002 33551 chr9 79325615 79325615 A G rs611461 PRUNE2 Synonymous SNV S525S 0.802 0.792 0.844 308 942 304 0.79 248 379 119 107 120 0.003 33552 chr19 54976342 54976342 G C rs117435208 CDC42EP5 Synonymous SNV P130P 0.016 0.013 0.01 2 19 5 0.005 3 1 0 0 0 0.647 33553 chr19 53453777 53453777 C T rs8110062 ZNF816 Synonymous SNV K417K 0.409 0.406 0.452 172 480 156 0.441 133 102 33 30 29 11.33 33554 chr8 142204326 142204326 C G rs1045248 DENND3 Synonymous SNV G1277G 0.474 0.424 0.442 178 556 163 0.456 130 137 35 29 42 8.521 33555 chr9 79635269 79635269 C T rs181219493 FOXB2 Synonymous SNV A233A 0.042 0.057 0.054 11 49 22 0.028 16 0 2 0 0 8.298 33556 chr9 79931101 79931101 G A rs41289967 VPS13A Nonsynonymous SNV E1509K 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.672 33557 chr19 53454789 53454789 A T rs12459008 ZNF816 Nonsynonymous SNV I80N 0.403 0.401 0.439 170 473 154 0.436 129 101 32 30 28 0.002 33558 chr19 52207528 52207528 G A rs2305373 SPACA6 Nonsynonymous SNV G246S 0.015 0.016 0.017 6 18 6 0.015 5 0 0 0 0 12.24 33559 chr9 79936415 79936415 A G rs17423984 VPS13A Synonymous SNV T1822T 0.094 0.099 0.071 40 110 38 0.103 21 5 5 2 1 Benign 1.419 33560 chr19 53553125 53553125 C T rs3844441 ERVV-2 Synonymous SNV P207P 0.248 0.253 0.058 88 291 97 0.226 17 64 17 4 18 3.003 33561 chr9 79954545 79954545 T C rs7025532 VPS13A Synonymous SNV D2125D 0.187 0.198 0.173 71 219 76 0.182 51 14 14 6 11 Benign 0.279 33562 chr8 142228909 142228909 G A rs753778 SLC45A4 Nonsynonymous SNV P226L 0.31 0.284 0.293 124 364 109 0.318 86 57 12 12 21 0.113 33563 chr19 53553992 53553992 C A rs73935209 ERVV-2 Synonymous SNV S496S 0.118 0.065 0.15 47 138 25 0.121 44 9 2 3 4 9.707 33564 chr19 55178162 55178162 A G rs11574576 LILRB4 Nonsynonymous SNV N365D 0.349 0.333 0.31 142 410 128 0.364 91 66 16 15 26 0.001 33565 chr9 79984232 79984232 T C rs17340192 VPS13A Synonymous SNV Y2818Y 0.097 0.102 0.071 40 114 39 0.103 21 5 5 2 1 Benign 0.509 33566 chr19 50045825 50045825 C A rs150082451 RCN3 Nonsynonymous SNV A232D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.491 33567 chr19 5223018 5223018 G A rs61729778 PTPRS Nonsynonymous SNV R907C 0.061 0.047 0.044 21 72 18 0.054 13 4 1 1 1 23.2 33568 chr9 79986057 79986057 A G rs3737289 VPS13A Synonymous SNV G2984G 0.413 0.414 0.378 158 485 159 0.405 111 93 37 21 32 Benign 7.299 33569 chr19 55179364 55179364 A G rs1048801 LILRB4 Nonsynonymous SNV Q444R 0.401 0.44 0.412 170 471 169 0.436 121 97 34 21 35 11.77 33570 chr9 80851350 80851350 G C rs10867166 CEP78 Synonymous SNV S28S 0.434 0.482 0.452 157 510 185 0.403 133 115 45 25 29 Benign 9.178 33571 chr9 80919756 80919756 T G rs3739474 PSAT1 Synonymous SNV A99A 0.632 0.638 0.711 245 742 245 0.628 209 241 77 71 80 Benign 8.654 33572 chr19 4217956 4217956 A G rs6510794 ANKRD24 Synonymous SNV A933A 0.366 0.333 0.388 144 430 128 0.369 114 124 34 28 43 3.964 33573 chr19 55396913 55396913 G A rs11666735 FCAR Nonsynonymous SNV D101N 0.095 0.104 0.088 40 112 40 0.103 26 7 2 2 3 12.36 33574 chr9 82187750 82187750 A G rs1934610 TLE4 0.957 0.961 0.942 371 1124 369 0.951 277 537 177 130 177 12.26 33575 chr9 82267510 82267510 A G rs199889847 TLE4 Synonymous SNV Q106Q 0.003 0.003 0.003 8 4 1 0.021 1 0 0 0 0 11.95 33576 chr9 84205860 84205860 G A rs8782 TLE1 Synonymous SNV T573T 0.342 0.354 0.381 121 401 136 0.31 112 78 27 23 18 10.45 33577 chr9 84267147 84267147 T C rs2228173 TLE1 Synonymous SNV E118E 0.858 0.867 0.888 333 1007 333 0.854 261 434 144 116 145 8.223 33578 chr1 43352685 43352685 A G rs6678503 LOC339539 0 0 0.602 0 0 0 0 177 0 0 83 0 0.15 33579 chr1 43352723 43352723 C G rs12739750 LOC339539 0 0 0.075 0 0 0 0 22 0 0 4 0 8.811 33580 chr9 86258685 86258685 A C rs1052690 IDNK Nonsynonymous SNV K185T 0.224 0.229 0.201 84 263 88 0.215 59 24 9 7 9 5.738 33581 chr19 55451797 55451797 C T rs775883 NLRP7 Synonymous SNV Q130Q 0.323 0.294 0.306 128 379 113 0.328 90 55 15 15 17 Benign 2.542 33582 chr8 143381810 143381810 T C rs7822013 TSNARE1 Nonsynonymous SNV T443A 0.447 0.495 0.456 177 525 190 0.454 134 121 42 38 38 0.319 33583 chr19 53632896 53632896 G A rs1661926 ZNF415 Nonsynonymous SNV P3S 0.503 0.482 0.48 184 591 185 0.472 141 140 41 33 45 13.9 33584 chr9 86278817 86278817 C A rs7866234 UBQLN1 Synonymous SNV L502L 0.187 0.169 0.272 82 219 65 0.21 80 21 6 6 6 12.14 33585 chr19 55481394 55481394 C T rs142463014 NLRP2 Nonsynonymous SNV S4L 0.01 0.023 0.024 2 12 9 0.005 7 0 0 0 0 Benign 19.89 33586 chr8 143413136 143413136 C T rs10435683 TSNARE1 Nonsynonymous SNV V49I 0.298 0.276 0.337 123 350 106 0.315 99 68 12 23 13 12.26 33587 chr9 86278913 86278913 C T rs2781004 UBQLN1 Synonymous SNV S470S 0.211 0.224 0.19 82 248 86 0.21 56 23 10 7 9 20.5 33588 chr19 55481398 55481398 G A rs269912 NLRP2 Synonymous SNV A5A 0.131 0.099 0.173 55 154 38 0.141 51 9 0 5 5 6.29 33589 chr8 143425720 143425720 T C rs10100935 TSNARE1 Nonsynonymous SNV T118A 0.325 0.31 0.391 128 382 119 0.328 115 75 17 26 13 0.001 33590 chr19 55494881 55494881 C G rs11672113 NLRP2 Synonymous SNV L583L 0.315 0.305 0.333 131 370 117 0.336 98 52 22 16 19 3.608 33591 chr9 86284178 86284178 C A rs1044175 UBQLN1 Synonymous SNV L390L 0.672 0.654 0.738 278 789 251 0.713 217 264 88 82 96 15.72 33592 chr8 143427178 143427178 C G rs33970858 TSNARE1 Nonsynonymous SNV R55P 0.214 0.227 0.269 86 251 87 0.221 79 30 5 11 7 5.207 33593 chr19 45445517 45445517 G A rs79429216 APOC4-APOC2 0.033 0.052 0.024 11 39 20 0.028 7 0 0 1 0 12.11 33594 chr9 86617265 86617265 A G rs1982151 RMI1 Nonsynonymous SNV N455S 0.663 0.664 0.626 259 778 255 0.664 184 247 87 57 85 0.001 33595 chr19 55512232 55512232 C A rs1043673 NLRP2 Nonsynonymous SNV A1030E 0.407 0.388 0.446 175 478 149 0.449 131 95 30 31 43 0.005 33596 chr19 46973630 46973630 C T rs369554909 PNMA8A Synonymous SNV T221T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12.26 33597 chr19 52887765 52887765 T C rs183216835 ZNF880 Nonsynonymous SNV L311P 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 23.5 33598 chr8 143436034 143436034 A G rs7814359 TSNARE1 Nonsynonymous SNV F18L 0.215 0.224 0.262 85 252 86 0.218 77 30 5 11 7 19.78 33599 chr19 53668549 53668549 T G rs10409924 ZNF665 Synonymous SNV G398G 0.153 0.156 0.19 64 180 60 0.164 56 20 6 5 7 0.229 33600 chr9 86920236 86920236 T C rs7867504 SLC28A3 Synonymous SNV T89T 0.33 0.31 0.282 132 388 119 0.338 83 68 20 13 24 0.041 33601 chr9 88356743 88356743 A G rs10114347 AGTPBP1 Synonymous SNV A45A 0.051 0.036 0.01 24 60 14 0.062 3 11 3 0 4 8.113 33602 chr9 88356821 88356823 GGC - rs199589522 AGTPBP1 A19del 0.005 0 0 0 6 0 0 0 2 0 0 0 33603 chr8 143623459 143623459 G T rs34364916 ADGRB1 Synonymous SNV L1288L 0.185 0.169 0.116 61 217 65 0.156 34 23 5 3 5 2.397 33604 chr9 88937852 88937854 TTT - rs397759922 TUT7 K814del 0.422 0.422 0.463 172 496 162 0.441 136 98 28 28 38 33605 chr19 4311977 4311977 C T rs45575337 FSD1 Nonsynonymous SNV P210L 0.022 0.021 0 10 26 8 0.026 0 0 0 0 0 26.6 33606 chr9 88959938 88959938 C T rs791323 TUT7 Synonymous SNV L317L 0.423 0.422 0.473 173 497 162 0.444 139 99 28 29 39 11.76 33607 chr8 143694775 143694775 G C rs28686812 ARC Synonymous SNV R286R 0.503 0.482 0.568 202 590 185 0.518 167 148 42 49 54 0.031 33608 chr9 89763574 89763574 A C rs461126 C9orf170 0.664 0.672 0.697 292 779 258 0.749 205 373 126 95 138 1.873 33609 chr8 143746050 143746050 C T rs2976399 JRK Nonsynonymous SNV G476R 0.421 0.409 0.432 154 494 157 0.395 127 93 33 31 23 8.256 33610 chr19 4328755 4328755 G C rs79657645 STAP2 Stop gain Y169X 0.022 0.021 0 10 26 8 0.026 0 0 0 0 0 38 33611 chr9 90321115 90321115 C T rs36220444 DAPK1 Synonymous SNV N1043N 0.023 0.021 0.02 11 27 8 0.028 6 0 0 0 0 10.63 33612 chr8 143746069 143746069 T C rs3735999 JRK Synonymous SNV P469P 0.453 0.44 0.473 175 532 169 0.449 139 110 37 37 33 1.6 33613 chr1 43897002 43897002 T C rs139810154 SZT2 Synonymous SNV D1604D 0.012 0.013 0.01 4 14 5 0.01 3 0 0 0 0 Benign/Likely benign 0.203 33614 chr19 47152941 47152941 G T rs570524067 DACT3 Synonymous SNV R5R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.994 33615 chr9 90321583 90321583 C T rs3118863 DAPK1 Synonymous SNV R1199R 0.499 0.464 0.486 198 586 178 0.508 143 159 48 32 51 11.01 33616 chr19 50285809 50285809 C T rs76907345 AP2A1 Synonymous SNV L101L 0.014 0.016 0.01 3 17 6 0.008 3 0 0 0 0 14.52 33617 chr9 90321862 90321862 A G rs36220448 DAPK1 Synonymous SNV S1292S 0.023 0.021 0.02 11 27 8 0.028 6 0 0 0 0 Benign 0.039 33618 chr19 50312801 50312801 C T rs35002951 FUZ Nonsynonymous SNV G139D 0.023 0.031 0.024 8 27 12 0.021 7 0 0 0 0 7.073 33619 chr8 143746416 143746416 A G rs754957 JRK Synonymous SNV H354H 0.453 0.44 0.473 176 532 169 0.451 139 110 37 37 33 3.2 33620 chr9 90322023 90322023 G A rs1056719 DAPK1 Nonsynonymous SNV S1346N 0.66 0.633 0.646 267 775 243 0.685 190 262 80 58 87 0.001 33621 chr8 143746701 143746701 A G rs3802232 JRK Synonymous SNV N259N 0.453 0.44 0.473 175 532 169 0.449 139 110 37 37 33 6.731 33622 chr19 47204207 47204207 C T rs45455991 PRKD2 Nonsynonymous SNV V167M 0.006 0.008 0.007 5 7 3 0.013 2 0 0 0 0 22.5 33623 chr19 51412668 51412668 A C rs1654551 KLK4 Nonsynonymous SNV S22A 0.067 0.065 0.075 25 79 25 0.064 22 4 0 2 0 0.002 33624 chr8 143747271 143747271 C G rs2978973 JRK Synonymous SNV S69S 0.418 0.409 0.425 151 491 157 0.387 125 90 33 30 21 11.76 33625 chr9 90500405 90500405 A C rs7850542 SPATA31E1 Nonsynonymous SNV T335P 0.481 0.44 0.432 191 565 169 0.49 127 135 38 26 41 0.001 33626 chr1 44035352 44035352 C T rs1065771 PTPRF Synonymous SNV A157A 0.24 0.281 0.276 85 282 108 0.218 81 38 11 8 11 14.55 33627 chr8 143782044 143782044 A G rs2585174 LY6K Synonymous SNV R33R 0.52 0.549 0.52 212 611 211 0.544 153 157 57 37 57 0.249 33628 chr1 44058265 44058265 C A rs3828151 PTPRF Synonymous SNV A602A 0.336 0.375 0.398 119 395 144 0.305 117 69 26 20 18 18.32 33629 chr8 143784500 143784500 T G rs2244163 LNCOC1 0.497 0.526 0.503 206 584 202 0.528 148 142 51 35 51 4.657 33630 chr9 90501448 90501448 C A rs4076795 SPATA31E1 Nonsynonymous SNV D682E 0.477 0.438 0.432 190 560 168 0.487 127 134 38 26 41 0.009 33631 chr8 143784885 143784885 C A rs2244152 LNCOC1 0.514 0.544 0.031 211 603 209 0.541 9 152 55 4 56 7.665 33632 chr19 44039453 44039453 C T rs765391464 ZNF575 Nonsynonymous SNV P118S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 33633 chr1 44072018 44072018 C T rs1065772 PTPRF Synonymous SNV T893T 0.285 0.318 0.367 105 335 122 0.269 108 44 16 20 12 8.187 33634 chr8 143808951 143808951 C T rs2585138 THEM6 Synonymous SNV L63L 0.511 0.542 0.517 211 600 208 0.541 152 151 54 38 56 18.07 33635 chr9 90502458 90502458 T A rs10868670 SPATA31E1 Nonsynonymous SNV V1019E 0.478 0.44 0.432 190 561 169 0.487 127 133 38 26 41 0.626 33636 chr8 143809193 143809193 C T rs2257840 THEM6 Synonymous SNV G143G 0.51 0.539 0.503 211 599 207 0.541 148 151 54 38 56 16.93 33637 chr9 90588903 90588903 C T rs665983 CDK20 Synonymous SNV E41E 0.889 0.891 0.891 343 1044 342 0.879 262 463 152 116 152 11.96 33638 chr8 143833850 143833850 G A rs11775636 LYPD2 Nonsynonymous SNV A7V 0.202 0.224 0.177 77 237 86 0.197 52 15 9 4 4 0.001 33639 chr19 47575224 47575235 GCATGTCTGCGT - rs548858570 ZC3H4 H649_M652del 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 33640 chr9 91656963 91656963 T C rs3750399 SHC3 Synonymous SNV P446P 0.615 0.583 0.588 249 722 224 0.638 173 222 59 55 78 1.809 33641 chr8 143833856 143833856 C T rs11778314 LYPD2 Nonsynonymous SNV R5Q 0.202 0.224 0.173 77 237 86 0.197 51 15 9 4 4 7.375 33642 chr9 93637015 93637015 C T rs2290890 SYK Synonymous SNV P332P 0.145 0.12 0.112 60 170 46 0.154 33 17 2 3 3 14.71 33643 chr19 55539049 55539049 C T rs5030705 GP6 Synonymous SNV T169T 0.132 0.094 0.18 49 155 36 0.126 53 10 1 4 3 Benign 12.18 33644 chr9 93639973 93639973 G C rs2290888 SYK Synonymous SNV R411R 0.146 0.122 0.112 60 171 47 0.154 33 17 2 3 3 8.863 33645 chr9 93640009 93640009 G A rs2290887 SYK Synonymous SNV L423L 0.146 0.122 0.112 60 171 47 0.154 33 17 2 3 3 11.3 33646 chr9 93641175 93641175 C T rs2306041 SYK Synonymous SNV Y484Y 0.146 0.12 0.116 60 171 46 0.154 34 17 2 4 3 12.24 33647 chr8 143845982 143845982 T C rs1075542 SLURP2 Nonsynonymous SNV S61G 0.274 0.31 0.252 98 322 119 0.251 74 41 17 7 15 1.429 33648 chr9 94486321 94486321 C T rs10761129 ROR2 Nonsynonymous SNV V819I 0.665 0.667 0.622 261 781 256 0.669 183 255 88 61 87 Benign 2.11 33649 chr19 55559740 55559740 G A rs1059211 RDH13 Synonymous SNV L205L 0.139 0.094 0.18 48 163 36 0.123 53 10 2 4 3 14.16 33650 chr19 50436115 50436115 C T rs61742136 ATF5 Synonymous SNV T205T 0.02 0.021 0.051 8 23 8 0.021 15 0 0 1 0 0.254 33651 chr8 143867905 143867905 C T rs2572925 LY6D Nonsynonymous SNV A10T 0.422 0.435 0.401 184 495 167 0.472 118 103 38 20 44 0.06 33652 chr1 44166419 44166419 G A rs550628752 KDM4A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 33653 chr9 94486688 94486688 G A rs10992063 ROR2 Synonymous SNV Y696Y 0.392 0.393 0.378 163 460 151 0.418 111 78 29 21 33 Benign 0.134 33654 chr19 54313086 54313086 G A NLRP12 Synonymous SNV G609G 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 11.53 33655 chr9 94495608 94495608 T C rs10820900 ROR2 Nonsynonymous SNV T245A 0.668 0.68 0.619 249 784 261 0.638 182 267 85 51 76 Benign 1.109 33656 chr19 55614923 55614923 T C rs2532060 PPP1R12C Synonymous SNV E195E 0.451 0.458 0.401 178 529 176 0.456 118 124 38 28 35 0.048 33657 chr8 144239859 144239859 A G rs10109061 LY6H Synonymous SNV C98C 0.461 0.49 0.432 163 541 188 0.418 127 117 45 28 36 1.157 33658 chr19 54313953 54313953 C T rs77625808 NLRP12 Synonymous SNV T320T 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Benign/Likely benign 13.76 33659 chr8 144240257 144240257 C G rs9694368 LY6H Synonymous SNV T71T 0.459 0.484 0.425 165 539 186 0.423 125 116 44 27 37 15 33660 chr9 95004607 95004607 A G rs747247907 IARS1 Synonymous SNV N974N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.623 33661 chr8 144295782 144295782 G T rs11538388 GPIHBP1 Synonymous SNV V46V 0.458 0.49 0.401 200 538 188 0.513 118 115 53 23 49 7.777 33662 chr9 95219597 95219597 G A rs4744132 ASPN Synonymous SNV S371S 0.986 0.984 0.969 382 1157 378 0.979 285 570 186 138 187 11.56 33663 chr1 45671599 45671599 G A rs188223265 ZSWIM5 Nonsynonymous SNV P142S 0.059 0.036 0.105 17 69 14 0.044 31 5 1 0 2 5.159 33664 chr19 54501527 54501527 G A rs34604090 CACNG6 Synonymous SNV T122T 0.065 0.091 0.075 30 76 35 0.077 22 3 0 0 1 13.29 33665 chr9 95237025 95237027 TCA - rs397838876 ASPN 0.398 0.456 0.289 132 467 175 0.338 85 97 46 32 26 33666 chr19 54556228 54556228 C G rs77931596 VSTM1 Nonsynonymous SNV G6R 0.276 0.276 0.02 112 324 106 0.287 6 114 35 3 38 0.646 33667 chr9 95284982 95284982 T G rs10120210 ECM2 Nonsynonymous SNV Q56P 0.673 0.667 0.629 241 790 256 0.618 185 257 84 54 78 0.076 33668 chr1 45671966 45671966 A G rs4454584 ZSWIM5 Synonymous SNV A19A 0.213 0.206 0.241 66 250 79 0.169 71 28 10 7 10 9.181 33669 chr19 5456159 5456159 G A rs201616133 ZNRF4 Synonymous SNV S219S 0.007 0 0 1 8 0 0.003 0 0 0 0 0 8.417 33670 chr1 45795084 45795084 G A rs140118273 MUTYH Nonsynonymous SNV S372F 0.011 0.008 0.01 7 13 3 0.018 3 0 0 0 0 Benign/Likely benign 16.82 33671 chr19 55672470 55672470 T C rs2365725 DNAAF3 Nonsynonymous SNV E360G 0.256 0.247 0.139 75 300 95 0.192 41 50 12 2 6 Benign/Likely benign 24.2 33672 chr9 95738781 95738781 C A rs3802381 FGD3 Synonymous SNV P81P 0.626 0.607 0.643 244 735 233 0.626 189 228 75 62 84 9.599 33673 chr1 45797505 45797505 C G rs3219489 MUTYH Nonsynonymous SNV Q195H 0.192 0.185 0.248 70 225 71 0.179 73 21 7 8 8 Benign 6.039 33674 chr9 95780465 95780465 A G rs7048975 FGD3 Synonymous SNV T392T 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.045 33675 chr19 55672784 55672784 A G rs7260320 DNAAF3 Synonymous SNV A290A 0.127 0.104 0.014 44 149 40 0.113 4 46 10 0 6 Benign/Likely benign 8.479 33676 chr9 95838070 95838070 G C rs1131768 SUSD3 Synonymous SNV T31T 0.135 0.133 0.119 63 158 51 0.162 35 10 4 2 1 3.425 33677 chr1 45808863 45808863 G A rs9429157 TOE1 Nonsynonymous SNV R341H 0.009 0.003 0.007 7 10 1 0.018 2 0 0 0 0 14.5 33678 chr9 95840256 95840256 A G rs1131773 SUSD3 Nonsynonymous SNV K73E 0.15 0.151 0.16 65 176 58 0.167 47 12 4 3 1 3.026 33679 chr19 46341824 46341824 C T rs17850110 SYMPK Synonymous SNV P379P 0.134 0.128 0.122 57 157 49 0.146 36 10 3 2 1 14.62 33680 chr8 144620342 144620342 T C rs1318196 ZC3H3 Nonsynonymous SNV S399G 0.303 0.331 0.364 132 356 127 0.338 107 58 25 18 24 0.933 33681 chr9 95887320 95887320 G T rs2275848 NINJ1 Nonsynonymous SNV A110D 0.786 0.786 0.779 315 923 302 0.808 229 357 118 88 130 16.65 33682 chr19 46352122 46352122 A G rs2303014 SYMPK Synonymous SNV I104I 0.134 0.128 0.126 57 157 49 0.146 37 10 3 2 1 10.79 33683 chr19 53304563 53304563 T C rs13382164 ZNF28 Nonsynonymous SNV R126G 0.272 0.266 0.214 113 319 102 0.29 63 38 14 8 16 3.045 33684 chr8 144620855 144620855 C A rs4873802 ZC3H3 Nonsynonymous SNV A228S 0.172 0.172 0.19 66 202 66 0.169 56 11 6 5 5 1.286 33685 chr9 96015256 96015256 C T rs4744201 WNK2 Synonymous SNV D642D 0.394 0.352 0.35 146 462 135 0.374 103 98 20 18 27 8.723 33686 chr19 46388379 46388379 C G rs3826892 IRF2BP1 Synonymous SNV R218R 0.072 0.076 0.105 36 84 29 0.092 31 4 2 1 2 8.585 33687 chr19 50955208 50955208 T C MYBPC2 Nonsynonymous SNV V566A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 33688 chr1 46094027 46094027 A G rs1250 GPBP1L1 Synonymous SNV S442S 0.278 0.318 0.282 112 326 122 0.287 83 41 21 16 14 3.717 33689 chr8 144621084 144621084 T G rs3750207 ZC3H3 Nonsynonymous SNV E151D 0.305 0.339 0.364 133 358 130 0.341 107 58 25 18 24 0.001 33690 chr9 96021312 96021312 G A rs10761203 WNK2 Nonsynonymous SNV V828M 0.389 0.349 0.344 145 457 134 0.372 101 96 20 18 26 21.1 33691 chr1 46095272 46095272 T C rs1135812 GPBP1L1 Synonymous SNV K416K 0.284 0.315 0.296 114 333 121 0.292 87 43 20 17 15 5.436 33692 chr19 51841348 51841348 C G rs200590126 VSIG10L Nonsynonymous SNV R615P 0.009 0.01 0.01 3 10 4 0.008 3 0 0 0 0 34 33693 chr19 44418775 44418775 C T rs61731635 ZNF45 Synonymous SNV T271T 0.043 0.031 0.054 13 51 12 0.033 16 0 0 0 0 12.65 33694 chr1 46195375 46195375 T C rs28375469 IPP Nonsynonymous SNV K264R 0.284 0.318 0.296 114 333 122 0.292 87 43 21 17 15 16.17 33695 chr8 144642854 144642854 G A rs11551202 GSDMD Synonymous SNV L164L 0.17 0.174 0.207 65 200 67 0.167 61 11 7 6 5 2.794 33696 chr9 96051521 96051521 A G rs2169756 WNK2 Synonymous SNV Q1495Q 0.963 0.977 0.969 382 1131 375 0.979 285 544 183 138 187 7.694 33697 chr19 464207 464207 C A rs74333855 ODF3L2 Synonymous SNV L169L 0.02 0.016 0.003 3 24 6 0.008 1 1 0 0 0 5.107 33698 chr19 53384197 53384197 A G rs61745485 ZNF320 Synonymous SNV F394F 0.056 0.057 0.051 16 66 22 0.041 15 2 1 0 0 3.811 33699 chr9 96209943 96209943 T C rs10821128 FAM120AOS Nonsynonymous SNV K59E 0.324 0.331 0.279 129 380 127 0.331 82 67 17 13 21 0.047 33700 chr9 96214928 96214928 G A rs1055710 FAM120AOS Nonsynonymous SNV L22F 0.319 0.331 0.282 126 375 127 0.323 83 68 17 13 21 0.051 33701 chr8 144649968 144649968 C T rs13255489 MROH6 Nonsynonymous SNV A619T 0.737 0.773 0.776 291 865 297 0.746 228 327 117 90 110 6.569 33702 chr19 53410639 53410639 G A rs965186228 ZNF888 Synonymous SNV A312A 0.012 0.005 0 0 14 2 0 0 0 0 0 0 7.473 33703 chr19 4651911 4651911 T C rs143527230 TNFAIP8L1 Synonymous SNV A10A 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 0.01 33704 chr9 96238578 96238578 C T rs10821135 FAM120A Synonymous SNV H254H 0.463 0.466 0.405 178 543 179 0.456 119 137 33 26 42 13.27 33705 chr1 46501359 46501359 A G rs34070850 MAST2 Nonsynonymous SNV K1672R 0.045 0.049 0.065 17 53 19 0.044 19 2 0 1 0 10.3 33706 chr9 96439004 96439004 - CCTGCCTCCACCACA rs149736720 PHF2 T996_S997insTPAST 0.557 0.555 0.517 220 654 213 0.564 152 186 63 45 67 33707 chr9 97055310 97055310 C T rs1536690 ZNF169 Nonsynonymous SNV P72L 0.242 0.229 0.19 105 284 88 0.269 56 38 13 3 16 23.3 33708 chr19 48220012 48220012 C T rs11550016 EHD2 Nonsynonymous SNV P48L 0.012 0.008 0.003 7 14 3 0.018 1 0 0 0 0 23.7 33709 chr9 97329737 97329737 - AG rs10657369 PCAT7 0.337 0.331 0.357 124 396 127 0.318 105 85 25 21 17 33710 chr9 97349666 97349666 C G rs573212 FBP2 Nonsynonymous SNV V86L 0.876 0.859 0.85 341 1028 330 0.874 250 449 147 106 148 13.87 33711 chr1 46660295 46660295 T C rs2292487 POMGNT1 Synonymous SNV K205K 0.327 0.313 0.337 127 384 120 0.326 99 60 19 20 21 Benign 6.375 33712 chr19 54867572 54867572 C T rs7257187 LAIR1 Synonymous SNV T218T 0.457 0.411 0.449 185 537 158 0.474 132 132 31 29 49 10.73 33713 chr9 97365720 97365720 T C rs1769257 FBP1 Synonymous SNV G320G 0.807 0.802 0.827 321 948 308 0.823 243 385 122 96 131 Benign 2.401 33714 chr1 46827274 46827274 A G rs150001344 NSUN4 Nonsynonymous SNV H255R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.16 33715 chr9 97369149 97369149 C T rs1769259 FBP1 Nonsynonymous SNV R218K 0.942 0.93 0.932 367 1106 357 0.941 274 520 167 127 173 Benign 15.69 33716 chr1 46870761 46870761 C A rs324420 FAAH Nonsynonymous SNV P129T 0.157 0.128 0.184 64 184 49 0.164 54 13 4 5 6 Benign 21.5 33717 chr8 144657801 144657801 G A rs9771743 NAPRT Synonymous SNV G165G 0.153 0.146 0.19 65 180 56 0.167 56 8 4 7 7 14.12 33718 chr19 51298159 51298159 C T rs143236952 ACP4 Nonsynonymous SNV P368L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 33719 chr9 97718205 97718205 C T rs146337789 AOPEP Nonsynonymous SNV R495W 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.3 33720 chr1 46871746 46871746 G A rs41305628 FAAH Synonymous SNV E274E 0.026 0.021 0.031 10 31 8 0.026 9 0 0 0 0 7.972 33721 chr8 144658730 144658730 G A rs744650 NAPRT Synonymous SNV P70P 0.033 0.026 0.037 17 39 10 0.044 11 0 0 1 0 5.702 33722 chr19 51995046 51995046 G T rs57043266 SIGLEC12 Nonsynonymous SNV P428Q 0.109 0.133 0.088 52 128 51 0.133 26 8 3 2 3 9.457 33723 chr9 98229389 98229389 C G rs2066829 LOC100507346 0.399 0.383 0.374 150 468 147 0.385 110 91 29 18 24 Benign 3.429 33724 chr8 144660046 144660046 G A rs896954 NAPRT Synonymous SNV A98A 0.152 0.146 0.207 65 178 56 0.167 61 8 4 7 7 13.73 33725 chr19 48305654 48305654 C T rs73036913 TPRX1 Nonsynonymous SNV G205D 0.066 0.102 0.054 35 77 39 0.09 16 12 5 3 2 0.123 33726 chr9 98238358 98238358 G A rs2066836 PTCH1 Synonymous SNV A510A 0.266 0.258 0.221 119 312 99 0.305 65 46 13 5 19 Benign 11.94 33727 chr19 55879872 55879872 C T rs1126757 IL11 Synonymous SNV A3A 0.463 0.427 0.422 203 544 164 0.521 124 128 32 28 57 13.96 33728 chr19 54974068 54974068 G A rs34567277 LENG9 Synonymous SNV A214A 0.02 0.016 0.01 5 23 6 0.013 3 0 0 0 0 3.829 33729 chr9 98638288 98638288 A G rs690528 ERCC6L2 Star tloss M1? 0.32 0.284 0.33 116 376 109 0.297 97 61 12 14 17 0.001 33730 chr19 55889451 55889451 G A rs77912983 TMEM190 Synonymous SNV T138T 0.104 0.052 0.136 29 122 20 0.074 40 4 0 1 2 9.159 33731 chr9 98871027 98871027 C G rs75873713 LOC158434 0.036 0.034 0.01 11 42 13 0.028 3 1 0 0 0 0.777 33732 chr19 55045042 55045042 G A rs61739186 KIR3DX1 0.274 0.31 0.34 117 322 119 0.3 100 55 21 17 19 0.307 33733 chr9 100071728 100071728 G A rs3747507 CCDC180 Synonymous SNV R78R 0.163 0.167 0.167 67 191 64 0.172 49 15 5 7 7 8.025 33734 chr19 55174498 55174498 T C rs28366008 LILRB4 Nonsynonymous SNV F5L 0.258 0.208 0.235 85 303 80 0.218 69 35 7 12 11 0.002 33735 chr19 46997016 46997016 - CGGCCT rs147338403 PNMA8B G570_V571insRG 0.022 0.018 0.044 8 26 7 0.021 13 6 3 0 1 33736 chr9 100074446 100074446 C T rs3747504 CCDC180 Synonymous SNV I148I 0.162 0.167 0.167 67 190 64 0.172 49 15 5 7 7 11.42 33737 chr9 100087345 100087345 A G rs3747496 CCDC180 Synonymous SNV S516S 0.417 0.443 0.486 173 489 170 0.444 143 107 41 34 38 0.665 33738 chr19 55914374 55914374 C T rs11672075 RPL28 Nonsynonymous SNV R130C 0.458 0.448 0.422 193 538 172 0.495 124 126 37 29 45 20.3 33739 chr9 100092968 100092968 - GAGGAG rs113264216 CCDC180 E780_K781insEE 0.363 0.391 0.476 159 426 150 0.408 140 104 39 34 37 33740 chr9 100105735 100105735 T C rs1947717 CCDC180 Synonymous SNV C840C 0.406 0.438 0.483 168 477 168 0.431 142 105 39 35 36 3.898 33741 chr19 55175016 55175016 A G rs765685566 LILRB4 Nonsynonymous SNV M21V 0.104 0.109 0.007 33 122 42 0.085 2 0 0 0 0 0.001 33742 chr9 100122291 100122291 T C rs3747495 CCDC180 Nonsynonymous SNV F1175L 0.161 0.167 0.167 65 189 64 0.167 49 14 5 7 6 6.929 33743 chr1 47726087 47726087 T C rs13376679 STIL Nonsynonymous SNV H985R 0.286 0.289 0.33 112 336 111 0.287 97 35 20 16 12 Benign 0.002 33744 chr9 100139161 100139161 A G rs11581 CCDC180 Synonymous SNV Q1697Q 0.166 0.167 0.177 67 195 64 0.172 52 14 5 7 6 6.202 33745 chr19 55998262 55998262 C T rs77664073 NAT14 Nonsynonymous SNV A187V 0.246 0.229 0.071 96 289 88 0.246 21 36 10 6 15 22.9 33746 chr9 100139182 100139182 C T rs898869 SUGT1P4-STRA6LP-CCDC180 0.161 0.167 0.167 65 189 64 0.167 49 14 5 7 6 5.985 33747 chr19 56000896 56000896 G T rs62130160 SSC5D Synonymous SNV G76G 0.196 0.151 0.16 77 230 58 0.197 47 21 1 6 10 8.486 33748 chr19 53762537 53762537 C T rs12609049 VN1R2 Synonymous SNV L303L 0.058 0.065 0.071 16 68 25 0.041 21 1 1 1 0 5.655 33749 chr9 100190780 100190780 A G rs1381532 TDRD7 Synonymous SNV L11L 0.467 0.445 0.439 190 548 171 0.487 129 127 39 31 44 Benign 7.501 33750 chr9 100194406 100194406 T C rs2045732 TDRD7 Nonsynonymous SNV V76A 0.471 0.451 0.442 192 553 173 0.492 130 127 39 32 44 Benign 0.004 33751 chr19 52033108 52033108 G A rs74352887 SIGLEC6 Synonymous SNV N242N 0.083 0.065 0.082 30 98 25 0.077 24 2 0 2 2 2.29 33752 chr9 100388197 100388197 C T rs2773347 TSTD2 Nonsynonymous SNV R83Q 0.649 0.721 0.711 271 762 277 0.695 209 241 102 73 96 14.14 33753 chr19 55179172 55179172 C T rs11574590 LILRB4 Synonymous SNV P406P 0.04 0.039 0.003 10 47 15 0.026 1 1 0 0 0 1.945 33754 chr8 144789272 144789272 C T rs539055756 CCDC166 Synonymous SNV S304S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.3 33755 chr19 52034469 52034469 C T rs1993462 SIGLEC6 Synonymous SNV K88K 0.176 0.125 0.156 61 207 48 0.156 46 12 1 6 7 9.198 33756 chr8 144789624 144789624 T C rs75368383 CCDC166 Nonsynonymous SNV K187R 0.061 0.076 0.075 25 72 29 0.064 22 1 0 2 0 23.6 33757 chr9 100616583 100616583 T C rs3021523 FOXE1 Synonymous SNV L129L 0.777 0.703 0.718 280 912 270 0.718 211 351 100 78 94 Benign 6.21 33758 chr19 52034549 52034549 C A rs62617068 SIGLEC6 Nonsynonymous SNV D62Y 0.02 0.039 0.027 7 24 15 0.018 8 0 0 0 0 Benign 23.1 33759 chr1 48695081 48695081 G A rs212989 SLC5A9 Nonsynonymous SNV V152M 0.169 0.188 0.197 73 198 72 0.187 58 19 2 6 7 15.66 33760 chr8 144798592 144798592 C T rs62524242 MAPK15 Synonymous SNV L15L 0.026 0.016 0.041 11 30 6 0.028 12 0 0 0 0 9.949 33761 chr9 100684719 100684719 A C rs3183928 TRMO Synonymous SNV V19V 0.43 0.372 0.364 152 505 143 0.39 107 114 30 24 28 5.526 33762 chr19 52131249 52131249 G A rs140633267 SIGLEC5 Synonymous SNV L279L 0.008 0.013 0.014 5 9 5 0.013 4 0 0 0 0 3.793 33763 chr9 100684757 100684757 A G rs3183927 TRMO Nonsynonymous SNV S7P 0.429 0.372 0.364 152 504 143 0.39 107 114 30 24 28 0.012 33764 chr8 144803450 144803450 C T rs34410761 MAPK15 Nonsynonymous SNV P358L 0.024 0.016 0.051 11 28 6 0.028 15 0 0 0 0 4.177 33765 chr9 100689693 100689693 A G rs1059003 HEMGN Synonymous SNV N476N 0.14 0.141 0.126 70 164 54 0.179 37 9 6 5 7 4.704 33766 chr9 100850048 100850048 G A TRIM14 Nonsynonymous SNV R345W 0.004 0.008 0 0 5 3 0 0 0 0 0 0 24.8 33767 chr8 144809721 144809721 G A rs142153660 FAM83H Nonsynonymous SNV P637L 0.026 0.01 0.048 12 30 4 0.031 14 0 0 1 0 Benign 11.22 33768 chr19 54387419 54387419 C T rs307955 PRKCG Synonymous SNV C69C 0.028 0.016 0.014 14 33 6 0.036 4 0 0 0 0 Benign/Likely benign 9.567 33769 chr9 100895443 100895443 C T rs735111 CORO2A Synonymous SNV T175T 0.089 0.109 0.092 49 105 42 0.126 27 5 3 0 2 7.958 33770 chr1 51826921 51826921 T C rs17567 EPS15 Nonsynonymous SNV I508M 0.245 0.24 0.214 95 288 92 0.244 63 36 10 6 17 16.19 33771 chr9 101533220 101533220 C T rs6415847 ANKS6 Nonsynonymous SNV V644I 0.954 0.956 0.973 377 1120 367 0.967 286 535 175 139 182 Benign 5.523 33772 chr19 56090493 56090493 A C rs12974617 ZNF579 Synonymous SNV P171P 0.193 0.201 0.116 90 227 77 0.231 34 25 4 3 10 0.001 33773 chr9 101570336 101570336 A T rs1137654 GALNT12 Nonsynonymous SNV E119V 0.055 0.083 0.054 22 65 32 0.056 16 1 0 1 0 Benign 33 33774 chr1 51873967 51873967 G A rs41292521 EPS15 Nonsynonymous SNV S124L 0.028 0.023 0.024 14 33 9 0.036 7 1 0 0 2 33 33775 chr19 48789612 48789612 G A rs75734088 ZNF114 Nonsynonymous SNV R244Q 0.022 0.026 0.01 8 26 10 0.021 3 1 0 0 0 1.831 33776 chr19 56104524 56104524 C T rs10403432 FIZ1 Synonymous SNV Q261Q 0.316 0.354 0.248 138 371 136 0.354 73 89 35 18 38 4.329 33777 chr1 52082881 52082881 C T rs143626823 OSBPL9 Synonymous SNV L33L 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 13.58 33778 chr9 101748356 101748356 A G rs2075663 COL15A1 Nonsynonymous SNV M204V 0.371 0.375 0.364 144 435 144 0.369 107 75 24 18 26 10.08 33779 chr19 56104560 56104560 C G rs10403462 FIZ1 Synonymous SNV T249T 0.365 0.393 0.255 160 428 151 0.41 75 91 35 18 41 8.646 33780 chr9 101778265 101778265 G T rs2297603 COL15A1 Nonsynonymous SNV G504V 0.062 0.081 0.068 21 73 31 0.054 20 3 0 1 1 0.654 33781 chr1 53527948 53527948 T G rs7513730 PODN Synonymous SNV P19P 0 0 0.146 0 0 0 0 43 0 0 6 0 1.007 33782 chr9 101804329 101804329 T C rs7854112 COL15A1 Synonymous SNV G838G 0.129 0.154 0.133 64 152 59 0.164 39 10 5 3 8 11.34 33783 chr19 56180968 56180968 C T rs617073 U2AF2 Synonymous SNV D397D 0.909 0.909 0.912 354 1067 349 0.908 268 483 161 125 160 8.075 33784 chr9 101822220 101822220 C T rs4480177 COL15A1 Synonymous SNV P1129P 0.22 0.234 0.262 93 258 90 0.238 77 35 10 11 14 11.42 33785 chr9 102591042 102591042 A G rs12344570 NR4A3 Nonsynonymous SNV S240G 0.469 0.479 0.391 169 551 184 0.433 115 129 46 30 36 0.322 33786 chr19 56188985 56188985 C G rs74369843 EPN1 Nonsynonymous SNV H39Q 0.033 0.036 0.014 16 39 14 0.041 4 0 0 0 0 6.856 33787 chr19 52000659 52000659 G A rs28744388 SIGLEC12 Synonymous SNV F364F 0.049 0.065 0.061 26 57 25 0.067 18 0 2 0 1 7.549 33788 chr19 52448669 52448669 G C rs11880193 ZNF613 Synonymous SNV P511P 0.114 0.094 0.153 42 134 36 0.108 45 8 3 2 0 8.888 33789 chr8 144942291 144942291 C T rs113397845 EPPK1 Nonsynonymous SNV D1711N 0.032 0.049 0.037 13 37 19 0.033 11 0 0 0 0 3.774 33790 chr9 102595685 102595685 C T rs10988904 NR4A3 Synonymous SNV A401A 0.358 0.352 0.34 139 420 135 0.356 100 74 24 18 23 11.76 33791 chr19 56206137 56206137 G C rs11545669 EPN1 Nonsynonymous SNV G411A 0.032 0.039 0.014 16 38 15 0.041 4 0 0 0 0 22 33792 chr9 103054951 103054951 T C rs2787374 INVS Synonymous SNV S478S 0.556 0.529 0.49 220 653 203 0.564 144 182 56 33 65 Benign 4.345 33793 chr19 52001282 52001282 G A rs56102305 SIGLEC12 Synonymous SNV N347N 0.049 0.065 0.054 22 57 25 0.056 16 0 2 0 0 7.951 33794 chr9 103235853 103235853 G T rs77849433 TMEFF1 Synonymous SNV P9P 0.18 0.201 0.153 83 211 77 0.213 45 15 6 3 10 10.61 33795 chr19 52001396 52001396 G A rs61743963 SIGLEC12 Synonymous SNV N309N 0.049 0.065 0.058 23 58 25 0.059 17 0 2 0 0 0.017 33796 chr1 53600078 53600078 A G rs3737989 SLC1A7 Synonymous SNV P53P 0.13 0.172 0.119 55 153 66 0.141 35 6 4 3 6 6.618 33797 chr9 103348634 103348634 G A rs2780956 CAVIN4 Synonymous SNV R332R 0.334 0.391 0.361 126 392 150 0.323 106 64 31 17 25 Benign 6.257 33798 chr19 54695430 54695430 C G TSEN34 Nonsynonymous SNV P72R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23 33799 chr9 104133628 104133628 C T rs1572983 BAAT Nonsynonymous SNV R20Q 0.681 0.685 0.724 263 799 263 0.674 213 266 91 77 92 Benign 8.682 33800 chr19 56320200 56320200 C T rs16986626 NLRP11 Synonymous SNV R493R 0.049 0.042 0.054 24 58 16 0.062 16 2 0 0 0 10.38 33801 chr1 53679229 53679229 A G rs1799822 CPT2 Nonsynonymous SNV M647V 0.232 0.232 0.248 89 272 89 0.228 73 40 14 8 7 Benign 23 33802 chr9 104152790 104152790 G C rs8394 MRPL50 Synonymous SNV A145A 0.095 0.081 0.116 40 111 31 0.103 34 5 0 3 2 7.697 33803 chr19 54721256 54721256 A G rs117030367 LILRB3 Nonsynonymous SNV S562P 0.129 0.13 0 40 152 50 0.103 0 10 3 0 1 0.002 33804 chr19 55606673 55606673 C T rs35936110 PPP1R12C Synonymous SNV P479P 0.023 0.021 0.003 3 27 8 0.008 1 0 1 0 0 11.11 33805 chr1 53681699 53681699 T G rs1134688 CZIB Synonymous SNV S76S 0.232 0.234 0.248 89 272 90 0.228 73 40 15 8 7 1.32 33806 chr9 104152846 104152846 G A rs8131 MRPL50 Nonsynonymous SNV L127F 0.094 0.081 0.116 40 110 31 0.103 34 4 0 3 2 27.8 33807 chr19 56369314 56369314 G A rs16986718 NLRP4 Synonymous SNV T185T 0.302 0.331 0.286 118 355 127 0.303 84 50 18 12 18 0.959 33808 chr19 54721260 54721260 G A rs117334650 LILRB3 Synonymous SNV P560P 0.132 0.128 0 43 155 49 0.11 0 9 2 0 1 0.293 33809 chr9 104324545 104324545 G A rs10521057 RNF20 Synonymous SNV P923P 0.173 0.182 0.167 72 203 70 0.185 49 20 9 4 7 9.643 33810 chr19 55624113 55624113 G A rs34521018 PPP1R12C Synonymous SNV G124G 0.134 0.104 0.099 63 157 40 0.162 29 10 2 3 5 10.52 33811 chr19 54721320 54721320 C G rs1053002 LILRB3 Nonsynonymous SNV Q540H 0.144 0.146 0.003 44 169 56 0.113 1 6 2 0 0 12.4 33812 chr9 104385711 104385711 C T rs10989563 GRIN3A Nonsynonymous SNV D835N 0.219 0.229 0.224 91 257 88 0.233 66 26 14 6 10 26.4 33813 chr19 55628609 55628609 A G rs66707428 PPP1R12C Synonymous SNV G101G 0.034 0.036 0.075 12 40 14 0.031 22 6 6 4 3 0.609 33814 chr8 144990528 144990528 A G rs7014582 PLEC Synonymous SNV A4473A 0.472 0.513 0.486 191 554 197 0.49 143 138 51 38 45 Benign 0.018 33815 chr19 54722250 54722250 T C rs1132610 LILRB3 Nonsynonymous SNV R525G 0.158 0.159 0.102 51 186 61 0.131 30 14 3 2 1 0.001 33816 chr19 56410222 56410222 C T rs302827 NLRP13 Synonymous SNV L957L 0.272 0.247 0.272 116 319 95 0.297 80 41 12 10 16 5.216 33817 chr8 144991176 144991176 T C rs6558405 PLEC Synonymous SNV S4257S 0.471 0.513 0.486 193 553 197 0.495 143 137 51 38 46 Benign 0.001 33818 chr9 104385712 104385712 A G rs10989564 GRIN3A Synonymous SNV N834N 0.472 0.484 0.449 168 554 186 0.431 132 124 46 31 35 4.096 33819 chr1 53742506 53742506 A G rs56300220 LRP8 Synonymous SNV R247R 0.077 0.076 0.224 36 90 29 0.092 66 29 10 11 8 0.731 33820 chr19 56423074 56423074 C G rs977070 NLRP13 Synonymous SNV L703L 0.457 0.456 0.456 173 537 175 0.444 134 137 39 33 43 3.235 33821 chr19 4844790 4844790 G C rs34070230 PLIN3 Nonsynonymous SNV Q284E 0.033 0.029 0.034 16 39 11 0.041 10 0 0 1 0 3.189 33822 chr1 53980389 53980389 C T rs41313369 GLIS1 Nonsynonymous SNV D423N 0.045 0.052 0.071 21 53 20 0.054 21 0 0 1 0 23.4 33823 chr9 104432873 104432873 T G rs942142 GRIN3A Synonymous SNV A607A 0.403 0.411 0.388 153 473 158 0.392 114 92 30 22 28 5.178 33824 chr8 144992103 144992103 T C rs6558406 PLEC Synonymous SNV T3948T 0.477 0.513 0.486 192 560 197 0.492 143 139 51 37 45 Benign 0.002 33825 chr19 44791447 44791447 T A rs36119289 ZNF235 Nonsynonymous SNV D714V 0.014 0.016 0.014 4 16 6 0.01 4 0 0 0 0 20.5 33826 chr9 104433034 104433034 A G rs10512285 GRIN3A Synonymous SNV L554L 0.403 0.414 0.388 152 473 159 0.39 114 92 30 22 27 0.197 33827 chr8 144992361 144992361 T C rs7822511 PLEC Synonymous SNV P3862P 0.462 0.492 0.439 181 542 189 0.464 129 131 47 32 40 Benign 0.002 33828 chr9 104433235 104433235 C T rs10989589 GRIN3A Nonsynonymous SNV G487R 0.402 0.414 0.388 152 472 159 0.39 114 91 30 22 27 22.6 33829 chr8 144992862 144992862 A G rs7819099 PLEC Synonymous SNV A3695A 0.469 0.523 0.49 192 551 201 0.492 144 135 53 39 45 Benign 0.31 33830 chr8 144993069 144993069 G A rs28455570 PLEC Synonymous SNV Y3626Y 0.03 0.042 0.024 15 35 16 0.038 7 1 0 0 0 Benign 1.179 33831 chr9 104449063 104449063 C T rs2506354 GRIN3A Synonymous SNV G373G 0.777 0.779 0.793 315 912 299 0.808 233 355 116 94 126 11.2 33832 chr19 55708573 55708573 G A rs2288520 PTPRH Synonymous SNV A456A 0.12 0.143 0.095 46 141 55 0.118 28 3 2 1 2 2.876 33833 chr8 144993324 144993324 C T rs6984820 PLEC Synonymous SNV T3541T 0.459 0.51 0.446 183 539 196 0.469 131 130 52 35 43 Benign 10.69 33834 chr9 104449098 104449098 C T rs10989591 GRIN3A Nonsynonymous SNV V362M 0.284 0.292 0.282 112 334 112 0.287 83 44 15 8 18 23 33835 chr1 54431971 54431971 C T rs372052852 LRRC42 Synonymous SNV I310I 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 8.892 33836 chr19 55710074 55710074 G A rs16986309 PTPRH Nonsynonymous SNV L365F 0.124 0.091 0.173 55 145 35 0.141 51 12 2 5 5 0.002 33837 chr8 144993377 144993377 A G rs6992333 PLEC Synonymous SNV L3524L 0.469 0.523 0.483 190 551 201 0.487 142 136 53 38 45 Benign 0.016 33838 chr1 54432019 54432019 G A rs2294514 LRRC42 Synonymous SNV E326E 0.188 0.138 0.167 75 221 53 0.192 49 23 5 4 4 7.103 33839 chr9 104499575 104499575 T C rs1337677 GRIN3A Synonymous SNV P229P 0.966 0.969 0.98 378 1134 372 0.969 288 547 180 141 183 0.724 33840 chr8 144994888 144994888 G A rs35858667 PLEC Nonsynonymous SNV A3020V 0.091 0.068 0.109 48 107 26 0.123 32 3 1 0 3 Benign/Likely benign 23.9 33841 chr9 105767349 105767349 G T rs13293961 CYLC2 Nonsynonymous SNV D146Y 0.033 0.029 0.007 8 39 11 0.021 2 0 0 0 0 14.97 33842 chr8 144995008 144995008 C T rs200970115 PLEC Nonsynonymous SNV R2980H 0 0.005 0 3 0 2 0.008 0 0 0 0 0 Uncertain significance 0.676 33843 chr19 55738746 55738746 G A rs4374298 TMEM86B Synonymous SNV L161L 0.27 0.266 0.211 102 317 102 0.262 62 45 11 8 19 5.69 33844 chr9 107266596 107266596 T C rs7049042 OR13F1 Nonsynonymous SNV F18S 0.721 0.758 0.769 287 847 291 0.736 226 312 112 89 105 0.004 33845 chr19 52196812 52196812 G C rs11881781 SPACA6 Synonymous SNV P11P 0.154 0.156 0.15 49 181 60 0.126 44 14 3 7 3 0.824 33846 chr19 55739605 55739605 C T rs4606850 TMEM86B Synonymous SNV S83S 0.271 0.268 0.211 102 318 103 0.262 62 45 11 8 19 11.73 33847 chr8 144995494 144995494 C T rs6558407 PLEC Nonsynonymous SNV R2818H 0.461 0.51 0.463 185 541 196 0.474 136 133 50 35 43 Benign 23.8 33848 chr19 56459458 56459458 C T rs61195059 NLRP8 Nonsynonymous SNV L64F 0.088 0.081 0.065 40 103 31 0.103 19 4 3 1 0 0.002 33849 chr19 55739813 55739813 G A rs10419308 TMEM86B Nonsynonymous SNV S14F 0.243 0.24 0 96 285 92 0.246 0 38 11 0 17 1.045 33850 chr1 54703630 54703630 C T rs113556489 SSBP3-AS1 0 0 0.048 0 0 0 0 14 0 0 0 0 5.734 33851 chr9 107266774 107266774 C G rs1949755 OR13F1 Synonymous SNV A77A 0.721 0.76 0.769 287 847 292 0.736 226 312 113 89 105 9.222 33852 chr8 144995736 144995736 G A rs11777402 PLEC Synonymous SNV N2737N 0.462 0.51 0.459 185 542 196 0.474 135 133 50 35 43 Benign 0.099 33853 chr9 107266844 107266844 A G rs1403812 OR13F1 Nonsynonymous SNV M101V 0.721 0.76 0.769 287 847 292 0.736 226 312 113 89 105 15.02 33854 chr8 144996029 144996029 A G rs7833924 PLEC Nonsynonymous SNV S2640P 0.465 0.51 0.49 187 546 196 0.479 144 136 50 37 43 Benign 3.087 33855 chr19 56466227 56466227 A G rs7259764 NLRP8 Nonsynonymous SNV Q268R 0.084 0.081 0.065 35 99 31 0.09 19 3 3 1 0 4.729 33856 chr1 55076113 55076113 G A rs4926650 FAM151A Synonymous SNV S352S 0.037 0.018 0.034 11 43 7 0.028 10 2 0 1 0 1.85 33857 chr9 107266943 107266943 G A rs1403811 OR13F1 Nonsynonymous SNV V134I 0.721 0.76 0.765 287 847 292 0.736 225 312 113 88 105 0.001 33858 chr8 144996408 144996408 T G rs11778026 PLEC Synonymous SNV A2513A 0.462 0.508 0.446 185 542 195 0.474 131 133 50 35 43 Benign 3.423 33859 chr19 56467281 56467281 A G rs61750024 NLRP8 Synonymous SNV E619E 0.086 0.078 0.061 40 101 30 0.103 18 4 3 0 0 0.035 33860 chr9 107267304 107267304 C T rs7030820 OR13F1 Nonsynonymous SNV T254M 0.549 0.581 0.585 215 645 223 0.551 172 179 68 50 61 28.5 33861 chr19 56473460 56473460 T C rs6509975 NLRP8 Synonymous SNV R690R 0.3 0.32 0.289 121 352 123 0.31 85 60 23 13 14 0.074 33862 chr8 144997656 144997656 C T rs7016416 PLEC Synonymous SNV A2133A 0.459 0.505 0.412 186 539 194 0.477 121 132 49 35 44 Benign 2.011 33863 chr19 52249900 52249900 G A rs5030879 FPR1 Synonymous SNV I116I 0.016 0.034 0.041 10 19 13 0.026 12 0 0 1 0 Benign 11.74 33864 chr9 107331504 107331504 C A rs7026705 OR13C8 Nonsynonymous SNV A19D 0.409 0.393 0.361 154 480 151 0.395 106 95 30 18 32 0.076 33865 chr8 144997927 144997927 G A rs7002002 PLEC Nonsynonymous SNV A2043V 0.462 0.508 0.435 186 542 195 0.477 128 133 50 35 44 Benign 12.02 33866 chr19 56485077 56485077 A G rs61740015 NLRP8 Nonsynonymous SNV Q846R 0.068 0.073 0.051 24 80 28 0.062 15 4 1 0 2 0.032 33867 chr9 107332138 107332138 C T rs76857839 OR13C8 Synonymous SNV S230S 0.014 0.018 0.02 2 17 7 0.005 6 0 0 0 0 0.031 33868 chr8 144998169 144998169 C T rs1140522 PLEC Synonymous SNV A1962A 0.463 0.51 0.449 186 543 196 0.477 132 133 50 35 44 Benign 6.618 33869 chr9 107456763 107456763 T C rs10991359 OR13D1 Nonsynonymous SNV F21L 0.226 0.229 0.187 97 265 88 0.249 55 35 9 7 8 12.18 33870 chr8 144998190 144998190 A G rs2857829 PLEC Synonymous SNV A1955A 0.463 0.51 0.449 186 543 196 0.477 132 133 50 35 44 Benign 0.002 33871 chr8 144999417 144999417 C T rs55836855 PLEC Synonymous SNV A1546A 0.462 0.508 0.456 185 542 195 0.474 134 133 50 35 43 Benign 7.112 33872 chr9 107457275 107457275 A C rs10820709 OR13D1 Nonsynonymous SNV Q191H 0.331 0.323 0.293 135 389 124 0.346 86 67 15 12 19 0.013 33873 chr8 144999621 144999621 C T rs55646585 PLEC Synonymous SNV A1478A 0.441 0.495 0.435 183 518 190 0.469 128 126 47 33 43 Benign 10.22 33874 chr9 107457532 107457532 C T rs10761073 OR13D1 Nonsynonymous SNV S277L 0.52 0.523 0.48 213 611 201 0.546 141 155 51 37 64 0.009 33875 chr8 144999642 144999642 A C rs56117011 PLEC Synonymous SNV A1471A 0.462 0.508 0.446 185 542 195 0.474 131 132 50 35 43 Benign 0.002 33876 chr19 56538976 56538976 G C rs471979 NLRP5 Nonsynonymous SNV M459I 0.11 0.135 0.143 44 129 52 0.113 42 4 2 2 3 0.011 33877 chr8 144999684 144999684 A G rs35916068 PLEC Synonymous SNV A1457A 0.462 0.508 0.446 185 542 195 0.474 131 133 50 35 43 Benign 0.004 33878 chr9 107515214 107515214 G A rs2274870 NIPSNAP3A Nonsynonymous SNV R100Q 0.653 0.654 0.711 238 767 251 0.61 209 250 86 80 80 25.5 33879 chr19 55048270 55048270 C T rs17606836 KIR3DX1 0.284 0.268 0.255 110 334 103 0.282 75 43 13 8 13 2.138 33880 chr8 145001031 145001031 T C rs55895668 PLEC Nonsynonymous SNV H1308R 0.465 0.513 0.49 187 546 197 0.479 144 136 50 37 43 Benign 1.761 33881 chr19 56539240 56539240 C T rs397977 NLRP5 Synonymous SNV D547D 0.382 0.396 0.32 145 449 152 0.372 94 85 22 18 25 9.171 33882 chr9 107562804 107562804 T C rs2230808 ABCA1 Nonsynonymous SNV K1587R 0.68 0.701 0.68 275 798 269 0.705 200 273 93 65 99 Benign 22.4 33883 chr1 55273580 55273580 G T rs9782980 LEXM Nonsynonymous SNV G126C 0.52 0.531 0.514 180 610 204 0.462 151 141 53 40 43 28.5 33884 chr8 145001588 145001588 C T rs11136334 PLEC Nonsynonymous SNV R1235Q 0.461 0.508 0.459 185 541 195 0.474 135 132 50 35 43 Benign 17.68 33885 chr9 107568705 107568705 C T rs2066716 ABCA1 Synonymous SNV T1427T 0.103 0.102 0.102 38 121 39 0.097 30 3 2 2 1 Benign 14.09 33886 chr19 56599405 56599405 C G rs4077285 ZNF787 Nonsynonymous SNV G378A 0.51 0.516 0.184 184 599 198 0.472 54 292 98 27 90 0.001 33887 chr8 145001784 145001784 A G rs3135109 PLEC Synonymous SNV L1170L 0.461 0.51 0.459 185 541 196 0.474 135 132 50 35 43 Benign 4.582 33888 chr9 108118569 108118569 A G rs41306484 SLC44A1 Nonsynonymous SNV T193A 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 8.284 33889 chr19 49079246 49079246 C T rs2544794 SULT2B1 Synonymous SNV P25P 0.149 0.167 0.109 58 175 64 0.149 32 19 8 1 8 17.89 33890 chr8 145007187 145007187 G A rs11136336 PLEC Nonsynonymous SNV A490V 0.436 0.469 0.439 173 512 180 0.444 129 117 45 31 37 Benign 13.05 33891 chr19 56599438 56599440 TCG - rs5828672 ZNF787 0.982 0.979 0.697 386 1153 376 0.99 205 569 187 102 192 33892 chr9 108363426 108363426 C T rs41277797 FKTN Nonsynonymous SNV R56C 0.042 0.039 0.01 20 49 15 0.051 3 0 0 0 1 Conflicting interpretations of pathogenicity 26.8 33893 chr19 56671273 56671281 CCCCGGCAG - rs371421706 ZNF444 S234_G236del 0.046 0.065 0.044 14 54 25 0.036 13 0 1 0 0 33894 chr8 145008560 145008560 A G rs11783799 PLEC Synonymous SNV D351D 0.445 0.471 0.425 174 522 181 0.446 125 123 46 32 38 Benign 0.014 33895 chr19 49168005 49168005 G A rs17851884 NTN5 Synonymous SNV H217H 0.135 0.135 0.136 44 158 52 0.113 40 12 5 1 3 12.05 33896 chr9 109689859 109689859 T C rs3814540 ZNF462 Synonymous SNV N1222N 0.377 0.367 0.395 156 443 141 0.4 116 88 25 24 26 0.01 33897 chr1 55505647 55505647 G T rs11591147 PCSK9 Nonsynonymous SNV R46L 0.007 0.005 0.017 7 8 2 0.018 5 0 0 0 0 Benign/Likely benign 17.1 33898 chr8 145011204 145011204 A G rs6993938 PLEC Synonymous SNV A112A 0.445 0.471 0.446 174 522 181 0.446 131 123 47 32 38 Benign 2.309 33899 chr19 55993436 55993436 G T rs147110934 ZNF628 Nonsynonymous SNV E292D 0.02 0.036 0.01 10 24 14 0.026 3 2 1 0 0 21.8 33900 chr9 109691676 109691676 A G rs3814538 ZNF462 Nonsynonymous SNV N1828S 0.386 0.378 0.401 161 453 145 0.413 118 92 27 24 30 0.303 33901 chr19 56694505 56694505 C T rs575756 GALP Synonymous SNV D73D 0.373 0.352 0.371 133 438 135 0.341 109 85 21 21 18 0.74 33902 chr9 111651620 111651620 A G rs3204145 ELP1 Nonsynonymous SNV C723R 0 0.003 0 0 0 1 0 0 0 0 0 0 21 33903 chr19 55399643 55399643 T C rs61735069 FCAR Synonymous SNV L102L 0.036 0.057 0.02 10 42 22 0.026 6 2 2 1 1 0.026 33904 chr19 49218660 49218660 C G MAMSTR Nonsynonymous SNV R95T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.658 33905 chr9 111663754 111663754 G A rs2230791 ELP1 Synonymous SNV T306T 0.07 0.078 0.065 26 82 30 0.067 19 3 1 0 1 Benign 11.9 33906 chr19 49228140 49228140 C G rs34043113 RASIP1 Synonymous SNV A735A 0.017 0.018 0.014 6 20 7 0.015 4 0 0 0 0 13.31 33907 chr9 111663793 111663793 C T rs10979605 ELP1 Synonymous SNV T293T 0.068 0.076 0.068 26 80 29 0.067 20 3 0 0 1 Benign 15.08 33908 chr9 111678508 111678508 C T rs1140064 ELP1 Nonsynonymous SNV E198K 0.009 0.026 0.017 2 10 10 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 14.6 33909 chr19 55995710 55995710 A G rs73057174 ZNF628 Synonymous SNV L1050L 0.032 0.047 0.031 13 38 18 0.033 9 2 1 0 0 10.06 33910 chr9 111679940 111679940 T C rs17853166 ELP1 Nonsynonymous SNV S137G 0.009 0.026 0.017 2 10 10 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 33911 chr19 56001665 56001665 C T rs114976626 SSC5D Nonsynonymous SNV A159V 0.027 0.039 0.041 12 32 15 0.031 12 2 1 0 0 0.142 33912 chr1 57158051 57158051 G A rs17848595 PRKAA2 Synonymous SNV R117R 0.082 0.104 0.068 40 96 40 0.103 20 7 4 0 1 12.54 33913 chr9 111692163 111692163 G A rs2230786 ELP1 Synonymous SNV L63L 0.009 0.026 0.017 2 10 10 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 10.57 33914 chr9 111696795 111696795 C T rs76817627 ABITRAM Nonsynonymous SNV P10L 0.009 0.026 0.017 2 10 10 0.005 5 0 0 0 0 16.29 33915 chr8 145095491 145095491 C G rs374723921 SPATC1 Synonymous SNV P263P 0 0.005 0 3 0 2 0.008 0 0 0 0 0 3.476 33916 chr19 55525586 55525586 C T rs10418074 GP6 Nonsynonymous SNV R576K 0.042 0.031 0.037 14 49 12 0.036 11 2 0 0 0 Benign 13.82 33917 chr19 56011573 56011573 C T rs61747393 SSC5D Nonsynonymous SNV T699M 0.028 0.039 0.034 14 33 15 0.036 10 2 1 0 0 6.913 33918 chr9 111881927 111881927 T C rs6825 TMEM245 Synonymous SNV L89L 0.411 0.479 0.456 175 483 184 0.449 134 88 43 30 41 4.241 33919 chr19 49309776 49309776 G C rs117048185 BCAT2 Nonsynonymous SNV Q100E 0.005 0.01 0.01 1 6 4 0.003 3 0 0 0 0 Benign 1.804 33920 chr8 145111529 145111529 A G rs11993554 OPLAH Synonymous SNV F612F 0.128 0.117 0.109 70 150 45 0.179 32 9 2 3 4 0.011 33921 chr9 111945049 111945049 T G rs3750450 EPB41L4B Nonsynonymous SNV N816T 0.79 0.784 0.769 309 928 301 0.792 226 361 116 90 122 22.6 33922 chr1 57480896 57480896 G A rs148158311 DAB1 Synonymous SNV P368P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.451 33923 chr19 56739747 56739747 C G rs28369316 ZSCAN5A Nonsynonymous SNV G11R 0.737 0.732 0 281 865 281 0.721 0 312 102 0 101 Benign 4.063 33924 chr8 145112983 145112983 C T rs55916375 OPLAH Nonsynonymous SNV V340I 0.123 0.109 0.095 67 144 42 0.172 28 9 2 2 3 0.382 33925 chr19 49370819 49370819 G T rs62127976 PLEKHA4 Nonsynonymous SNV S20Y 0.037 0.036 0.02 22 43 14 0.056 6 0 0 0 3 26.6 33926 chr19 56953963 56953963 G A rs35914474 ZNF667 Nonsynonymous SNV P134L 0.549 0.521 0.51 215 644 200 0.551 150 171 53 42 64 5.969 33927 chr19 56029188 56029188 C G rs77400028 SSC5D Nonsynonymous SNV T1182S 0.046 0.055 0.041 22 54 21 0.056 12 1 1 2 1 13.04 33928 chr9 112219474 112219474 C G rs3793524 PTPN3 Nonsynonymous SNV A90P 0.317 0.313 0.35 149 372 120 0.382 103 61 20 16 34 15.29 33929 chr8 145113241 145113241 T G rs3935209 OPLAH Nonsynonymous SNV S284R 0.13 0.115 0.109 68 153 44 0.174 32 10 2 3 4 0.671 33930 chr1 59364918 59364918 G A rs6658104 LINC01135 0 0 0.276 0 0 0 0 81 0 0 9 0 0.146 33931 chr19 56954103 56954103 C A rs7253217 ZNF667 Synonymous SNV G87G 0.261 0.214 0.211 91 307 82 0.233 62 38 14 5 8 6.454 33932 chr9 112811038 112811038 C T rs78923754 PALM2AKAP2 Nonsynonymous SNV P20L 0.098 0.07 0.054 36 115 27 0.092 16 16 3 1 3 7.735 33933 chr1 59365079 59365079 G T rs2492323 LINC01135 0 0 0.15 0 0 0 0 44 0 0 2 0 12.74 33934 chr19 56029191 56029191 C T rs76172483 SSC5D Nonsynonymous SNV T1183M 0.046 0.055 0.041 22 54 21 0.056 12 1 1 2 1 17.96 33935 chr8 145114643 145114643 G A rs6558292 OPLAH Synonymous SNV I74I 0.122 0.104 0.099 67 143 40 0.172 29 9 2 2 3 7.916 33936 chr19 53303890 53303890 C G rs57548937 ZNF28 Nonsynonymous SNV R350T 0.121 0.112 0.116 55 142 43 0.141 34 8 2 1 2 6.657 33937 chr9 112899361 112899361 A C rs4978872 PALM2AKAP2 Nonsynonymous SNV K371Q 0.812 0.802 0.806 323 953 308 0.828 237 379 125 96 130 0.403 33938 chr8 145114844 145114844 C T rs7004867 OPLAH Nonsynonymous SNV R31Q 0.124 0.109 0.102 67 145 42 0.172 30 9 2 2 3 20.2 33939 chr19 56029201 56029201 C A rs74585733 SSC5D Nonsynonymous SNV H1186Q 0.046 0.055 0.037 21 54 21 0.054 11 1 1 2 0 0.005 33940 chr9 112899719 112899719 C T rs764376988 PALM2AKAP2 Nonsynonymous SNV S490L 0 0 0 0 0 0 0 0 0 0 0 0 1.555 33941 chr8 145114924 145114924 G C rs7003860 OPLAH Synonymous SNV P4P 0.123 0.104 0.099 62 144 40 0.159 29 9 1 2 3 0.042 33942 chr19 56029519 56029519 C T rs111456686 SSC5D Synonymous SNV T1292T 0.049 0.055 0.061 19 57 21 0.049 18 2 1 2 1 11.02 33943 chr1 6142308 6142308 T C rs2227911 KCNAB2 Synonymous SNV D18D 0.085 0.086 0.119 23 100 33 0.059 35 5 1 3 1 6.942 33944 chr8 145139727 145139727 C T rs4977165 GPAA1 Synonymous SNV I371I 0.128 0.109 0.105 72 150 42 0.185 31 9 2 3 5 13.84 33945 chr19 56029523 56029523 C T rs113619253 SSC5D Nonsynonymous SNV H1294Y 0.049 0.055 0.061 19 57 21 0.049 18 2 1 2 1 0.041 33946 chr9 112900199 112900199 T C rs914358 PALM2AKAP2 Nonsynonymous SNV L650S 0.503 0.5 0.466 207 591 192 0.531 137 149 49 35 49 0.016 33947 chr19 53344051 53344051 T C rs75548544 ZNF468 Nonsynonymous SNV E499G 0.092 0.091 0.088 40 108 35 0.103 26 4 1 2 3 23 33948 chr19 57036678 57036678 G A rs3752177 ZNF471 Synonymous SNV S340S 0.196 0.169 0.197 74 230 65 0.19 58 23 3 2 10 10.61 33949 chr19 56029543 56029543 C T rs114559746 SSC5D Synonymous SNV H1300H 0.047 0.052 0.058 19 55 20 0.049 17 2 1 2 1 7.477 33950 chr9 112963504 112963504 A G rs10120707 C9orf152 Synonymous SNV D148D 0.899 0.854 0.861 342 1055 328 0.877 253 475 138 110 152 0.077 33951 chr19 49993739 49993739 C T rs11539123 RPL13A Synonymous SNV Y54Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.71 33952 chr8 145154910 145154910 G A rs11541805 SHARPIN Nonsynonymous SNV P147S 0.06 0.034 0.058 28 70 13 0.072 17 1 0 2 1 3.112 33953 chr19 56029552 56029552 - ACTGCTGACCCCACCACT rs754491504 SSC5D T1304_P1305insADPTTT 0.046 0.047 0.058 19 54 18 0.049 17 2 0 2 1 33954 chr9 113091523 113091523 T G rs7041938 TXNDC8 Nonsynonymous SNV N60H 0.104 0.122 0.102 38 122 47 0.097 30 3 3 1 1 22 33955 chr19 56029559 56029559 - ATCCCACCACAACCCCTC rs747826566 SSC5D P1311_Y1312insHPTTTP 0.046 0.047 0.048 19 54 18 0.049 14 2 0 2 1 33956 chr19 57058998 57058998 C G rs34136271 ZFP28 Nonsynonymous SNV S141W 0.176 0.161 0.18 69 207 62 0.177 53 19 2 1 10 24.3 33957 chr19 53344426 53344426 T C rs12462929 ZNF468 Nonsynonymous SNV H374R 0.092 0.091 0.088 40 108 35 0.103 26 4 1 2 3 0.011 33958 chr19 56029616 56029616 - CCA rs150781976 SSC5D T1327_P1328insT 0.246 0.26 0.282 102 289 100 0.262 83 30 16 10 12 33959 chr9 113163239 113163239 A C rs1410048 SVEP1 Synonymous SNV V3239V 0.124 0.102 0.116 46 146 39 0.118 34 12 3 1 3 3.865 33960 chr1 6215736 6215736 C G rs12074369 CHD5 Synonymous SNV L143L 0.07 0.081 0.075 33 82 31 0.085 22 2 0 1 0 1.236 33961 chr19 57065189 57065189 T C rs145011 ZFP28 Synonymous SNV F345F 0.227 0.25 0.207 80 266 96 0.205 61 32 12 5 8 0.006 33962 chr9 113166697 113166697 T A rs1410049 SVEP1 Synonymous SNV V3192V 0.589 0.594 0.578 227 692 228 0.582 170 203 69 53 70 3.217 33963 chr19 50188046 50188046 G C rs138444838 PRMT1 Synonymous SNV T179T 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 3.998 33964 chr9 113166792 113166792 A T rs3739451 SVEP1 Nonsynonymous SNV F3161I 0.16 0.146 0.177 59 188 56 0.151 52 18 4 3 4 15.93 33965 chr19 55568084 55568084 C T rs12608979 RDH13 Nonsynonymous SNV A93T 0.043 0.026 0.054 13 51 10 0.033 16 2 0 0 0 25 33966 chr1 62330134 62330134 G A rs4915787 PATJ Synonymous SNV L888L 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 Benign 8.271 33967 chr19 50321627 50321627 G T rs545524810 MED25 Nonsynonymous SNV R10L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.8 33968 chr19 57088850 57088850 T C rs3752180 ZNF470 Synonymous SNV D351D 0.387 0.385 0.415 170 454 148 0.436 122 79 31 26 30 0.069 33969 chr9 113169126 113169126 G A rs2281937 SVEP1 Synonymous SNV H2918H 0.443 0.398 0.473 160 520 153 0.41 139 114 32 30 28 0.071 33970 chr19 53345060 53345060 G C rs61747364 ZNF468 Nonsynonymous SNV Q163E 0.085 0.078 0.088 39 100 30 0.1 26 4 1 2 3 0.007 33971 chr19 55568085 55568085 G T rs12609004 RDH13 Nonsynonymous SNV N92K 0.043 0.026 0.054 13 51 10 0.033 16 2 0 0 0 0.094 33972 chr9 113169630 113169630 T C rs7046213 SVEP1 Synonymous SNV A2750A 0.592 0.596 0.588 227 695 229 0.582 173 205 69 55 69 0.002 33973 chr19 53345076 53345076 T C rs61747369 ZNF468 Synonymous SNV E157E 0.067 0.068 0.088 31 79 26 0.079 26 4 1 2 3 0.003 33974 chr9 113169631 113169631 G A rs7030192 SVEP1 Nonsynonymous SNV A2750V 0.383 0.38 0.401 143 450 146 0.367 118 82 33 21 25 0.003 33975 chr19 53345095 53345095 G A rs61729939 ZNF468 Nonsynonymous SNV P151L 0.073 0.078 0.109 29 86 30 0.074 32 7 3 2 5 0.003 33976 chr19 56056257 56056257 G C rs56258384 SBK3 Nonsynonymous SNV P35R 0.029 0.031 0.031 12 34 12 0.031 9 4 0 0 0 1.851 33977 chr9 113261483 113261483 C T rs872665 SVEP1 Nonsynonymous SNV V507I 0.319 0.318 0.361 122 375 122 0.313 106 58 13 20 17 11.95 33978 chr19 53345110 53345110 A G rs61729942 ZNF468 Nonsynonymous SNV L146S 0.082 0.073 0.088 38 96 28 0.097 26 4 1 2 3 0.002 33979 chr19 57327503 57327503 A G rs33931963 PEG3 Synonymous SNV Y614Y 0.241 0.253 0.197 82 283 97 0.21 58 42 13 10 8 0.015 33980 chr19 53345176 53345176 C T rs61732713 ZNF468 Nonsynonymous SNV G124D 0.094 0.091 0.088 40 110 35 0.103 26 4 1 2 3 0.001 33981 chr9 113276356 113276356 C G rs3818764 SVEP1 Nonsynonymous SNV G332A 0.198 0.172 0.129 63 232 66 0.162 38 28 7 3 5 13.47 33982 chr8 145170353 145170353 T A rs59976468 WDR97 Nonsynonymous SNV V1396D 0.101 0.083 0.092 56 118 32 0.144 27 7 2 2 2 6.454 33983 chr9 113538122 113538122 G A rs2274419 MUSK Star tloss M1? 0.113 0.099 0.088 46 133 38 0.118 26 4 2 0 3 Benign 8.585 33984 chr19 53348534 53348534 A G rs73069429 ZNF468 Nonsynonymous SNV I53T 0.062 0.065 0.031 27 73 25 0.069 9 1 0 1 2 1.919 33985 chr19 53352359 53352359 A G rs12462241 ZNF468 Synonymous SNV Y41Y 0.061 0.065 0.068 27 72 25 0.069 20 1 0 1 2 1.274 33986 chr9 114090279 114090279 A G rs314452 OR2K2 Synonymous SNV A145A 0.606 0.563 0.599 240 711 216 0.615 176 205 63 56 74 0.055 33987 chr9 114174415 114174415 T C rs2418163 ECPAS Nonsynonymous SNV N698S 0.524 0.49 0.49 206 615 188 0.528 144 155 47 33 50 9.091 33988 chr9 114359624 114359624 C A rs1053959 PTGR1 Nonsynonymous SNV A27S 0.562 0.513 0.571 237 660 197 0.608 168 183 51 50 70 12.4 33989 chr19 50473221 50473221 T C rs440731 SIGLEC16 Nonsynonymous SNV W65R 0.021 0.034 0.017 8 25 13 0.021 5 4 1 0 0 0.003 33990 chr19 53410482 53410482 G A rs148337631 ZNF888 Nonsynonymous SNV R365C 0.048 0.052 0.007 16 56 20 0.041 2 3 0 0 1 0.619 33991 chr9 114454544 114454544 T C rs7869279 SHOC1 Nonsynonymous SNV E1135G 0.445 0.453 0.493 178 523 174 0.456 145 118 41 34 42 23.2 33992 chr1 62713246 62713246 G A rs10889315 KANK4 Synonymous SNV H299H 0.426 0.443 0.429 163 500 170 0.418 126 113 36 25 30 11.51 33993 chr19 56125944 56125944 C T rs2280254 ZNF865 Synonymous SNV P320P 0.087 0.099 0.102 33 102 38 0.085 30 9 1 3 3 12.24 33994 chr19 56127597 56127597 G A rs3852898 ZNF865 Synonymous SNV T871T 0.085 0.094 0.112 33 100 36 0.085 33 8 1 3 3 12.58 33995 chr19 53518514 53518514 C T rs11670105 ERVV-1 Nonsynonymous SNV L391F 0.061 0.083 0.044 17 72 32 0.044 13 1 1 0 0 23.6 33996 chr19 50549462 50549462 G A rs117757975 ZNF473 Nonsynonymous SNV V576M 0.03 0.021 0.041 20 35 8 0.051 12 0 0 0 0 13.29 33997 chr9 114454580 114454580 A G rs1475110 SHOC1 Nonsynonymous SNV I1123T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 33998 chr19 56154339 56154339 C T rs12981222 ZNF580 Synonymous SNV C155C 0.095 0.089 0.105 38 112 34 0.097 31 8 0 2 4 13.71 33999 chr19 50713655 50713655 G C rs8106196 MYH14 Synonymous SNV R11R 0.037 0.047 0.037 19 44 18 0.049 11 0 1 0 0 Benign 6.961 34000 chr19 53572232 53572232 T C rs200276728 ZNF160 Nonsynonymous SNV S519G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.55 34001 chr9 114462322 114462322 A G rs6477845 SHOC1 Nonsynonymous SNV L929P 0.767 0.75 0.735 297 900 288 0.762 216 350 117 86 113 7.084 34002 chr19 56206311 56206311 C T rs61736521 EPN1 Nonsynonymous SNV P469L 0.051 0.047 0.034 25 60 18 0.064 10 2 0 0 1 8.95 34003 chr19 50753870 50753870 C T rs61731838 MYH14 Synonymous SNV G577G 0.065 0.063 0.092 26 76 24 0.067 27 2 2 1 0 Benign 20.3 34004 chr9 114464487 114464487 T C rs1407390 SHOC1 Nonsynonymous SNV Y893C 0.774 0.758 0.752 296 909 291 0.759 221 352 116 87 113 9.61 34005 chr8 145617535 145617549 GGGGGTGCAAGGTGA - rs148509143 ADCK5 G420Lfs*83 0.247 0.276 0.327 98 290 106 0.251 96 93 39 25 32 34006 chr19 579627 579627 C T rs1803202 BSG Synonymous SNV D65D 0.179 0.151 0.156 51 210 58 0.131 46 17 4 3 2 11.93 34007 chr19 56223788 56223788 G A rs146098794 NLRP9 Synonymous SNV L890L 0.014 0.018 0.007 2 17 7 0.005 2 0 0 0 0 Benign 0.11 34008 chr8 145623963 145623963 G A rs4317614 CPSF1 Synonymous SNV D568D 0.377 0.404 0.354 153 443 155 0.392 104 75 31 19 31 1.188 34009 chr19 57967049 57967049 G T rs61744949 VN1R1 Nonsynonymous SNV A269D 0.215 0.221 0.204 54 252 85 0.138 60 24 10 7 2 5.998 34010 chr9 114490308 114490308 T C rs7470491 SHOC1 Nonsynonymous SNV H377R 0.759 0.758 0.769 293 891 291 0.751 226 344 117 88 110 0.001 34011 chr19 53576712 53576712 G A ZNF160 Nonsynonymous SNV P108S 0.007 0.018 0 2 8 7 0.005 0 0 0 0 0 4.608 34012 chr19 50779443 50779443 C T rs78573213 MYH14 Synonymous SNV N1180N 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Benign 17.56 34013 chr19 57967133 57967133 G A rs28649880 VN1R1 Nonsynonymous SNV S241F 0.215 0.221 0.204 54 252 85 0.138 60 24 10 7 2 15.56 34014 chr9 115216223 115216226 ATTA - rs10538330 C9orf147 N171Sfs*12 0.906 0.927 0.918 346 1064 356 0.887 270 512 172 123 163 34015 chr9 115421788 115421788 C A rs16917185 KIAA1958 Synonymous SNV I530I 0.026 0.023 0.02 9 30 9 0.023 6 0 0 0 0 20.4 34016 chr19 53612518 53612518 C T rs142864555 ZNF415 Synonymous SNV A30A 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 12.05 34017 chr19 57984918 57984918 A G rs2074058 ZNF772 Synonymous SNV S286S 0.214 0.224 0.18 55 251 86 0.141 53 23 10 7 2 0.201 34018 chr9 115567184 115567184 T C rs1891402 SNX30 Synonymous SNV V95V 0.91 0.922 0.929 362 1068 354 0.928 273 486 162 126 168 0.13 34019 chr19 53391402 53391402 A G rs145680166 ZNF320 Synonymous SNV N40N 0.127 0.109 0.071 36 149 42 0.092 21 0 0 0 0 0.773 34020 chr19 56320663 56320663 G A rs12461110 NLRP11 Nonsynonymous SNV P339L 0.32 0.344 0.221 137 376 132 0.351 65 60 21 7 25 11.82 34021 chr9 115580008 115580008 G C rs10117709 SNX30 Synonymous SNV L124L 0.81 0.857 0.847 317 951 329 0.813 249 383 141 106 129 7.222 34022 chr19 53391453 53391453 T C rs34416642 ZNF320 Synonymous SNV K23K 0.059 0.055 0.054 17 69 21 0.044 16 2 0 0 0 0.297 34023 chr9 115600848 115600848 T C rs7023478 SNX30 Synonymous SNV A295A 0.988 0.987 0.983 382 1160 379 0.979 289 573 187 142 187 0.537 34024 chr19 50862319 50862319 G A rs61729810 NAPSA Synonymous SNV F328F 0.014 0.013 0.027 9 16 5 0.023 8 0 0 2 0 11.85 34025 chr9 115652836 115652836 G A rs3802492 SLC46A2 Synonymous SNV L42L 0.389 0.417 0.384 162 457 160 0.415 113 92 39 19 32 11.12 34026 chr19 53410226 53410226 T G rs111819213 ZNF888 Nonsynonymous SNV Q450P 0.014 0.016 0 4 17 6 0.01 0 0 0 0 0 2.452 34027 chr19 50918229 50918229 G A rs3218775 POLD1 Nonsynonymous SNV R875H 0.014 0.013 0.024 9 16 5 0.023 7 0 0 2 0 Benign 22.4 34028 chr9 115818949 115818949 A T rs2282076 ZFP37 Nonsynonymous SNV V7D 0.584 0.568 0.497 230 686 218 0.59 146 194 66 33 70 0.147 34029 chr19 57988666 57988666 - GCC rs34678661 ZNF772 A4_E5insA 0.213 0.221 0.204 55 250 85 0.141 60 23 10 7 2 34030 chr19 56321517 56321517 T C rs7249635 NLRP11 Synonymous SNV G54G 0.075 0.073 0.041 30 88 28 0.077 12 0 0 1 2 0.011 34031 chr19 580388 580388 C G rs2229664 BSG Synonymous SNV S14S 0.179 0.151 0.153 51 210 58 0.131 45 17 4 3 2 8.91 34032 chr9 115931593 115931593 G A rs1128122 FKBP15 Synonymous SNV T1132T 0.08 0.07 0.058 26 94 27 0.067 17 0 1 2 0 6.867 34033 chr8 145661320 145661320 G A rs2721140 TONSL Synonymous SNV A832A 0.435 0.435 0.449 173 511 167 0.444 132 108 41 30 43 7.33 34034 chr1 6324747 6324747 G A rs61739537 ACOT7 Synonymous SNV T341T 0.017 0.018 0.024 2 20 7 0.005 7 0 0 0 0 16.11 34035 chr9 115932012 115932012 G T rs57348436 FKBP15 Nonsynonymous SNV P993T 0.08 0.07 0.058 26 94 27 0.067 17 0 1 2 0 1.317 34036 chr19 56369572 56369572 G A rs34062458 NLRP4 Synonymous SNV P271P 0.069 0.073 0.065 30 81 28 0.077 19 3 1 0 0 8.97 34037 chr8 145661675 145661675 G A rs7830832 TONSL Nonsynonymous SNV A714V 0.426 0.44 0.435 174 500 169 0.446 128 109 42 29 43 13.79 34038 chr9 115932150 115932150 - TTC rs113480096 FKBP15 E946_K947insE 0.081 0.07 0.061 30 95 27 0.077 18 0 1 1 1 34039 chr19 50957600 50957600 T C rs150466277 MYBPC2 Nonsynonymous SNV M663T 0.026 0.023 0.02 12 31 9 0.031 6 1 0 0 0 0.049 34040 chr8 145662377 145662377 A C rs2242270 TONSL-AS1 0.401 0.391 0.418 171 471 150 0.438 123 94 31 26 40 0.186 34041 chr9 115933885 115933885 A C rs1128118 FKBP15 Synonymous SNV A878A 0.081 0.07 0.065 30 95 27 0.077 19 0 1 2 1 0.014 34042 chr19 58059187 58059187 G A rs142200842 ZNF550 Nonsynonymous SNV P142L 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 8.376 34043 chr9 115933978 115933978 G A rs1128117 FKBP15 Synonymous SNV A847A 0.08 0.07 0.065 28 94 27 0.072 19 0 1 2 1 12.37 34044 chr9 115933980 115933980 C A rs1128116 FKBP15 Nonsynonymous SNV A847S 0.08 0.07 0.065 28 94 27 0.072 19 0 1 2 1 23.9 34045 chr1 64017419 64017419 G A rs147375223 EFCAB7 Nonsynonymous SNV V324I 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 22 34046 chr9 115941046 115941046 T C rs3810912 FKBP15 Synonymous SNV A650A 0.124 0.086 0.126 30 145 33 0.077 37 7 0 2 1 8.312 34047 chr9 115950706 115950706 A C rs10435864 FKBP15 Nonsynonymous SNV H413Q 0.56 0.536 0.544 209 657 206 0.536 160 192 56 41 53 0.352 34048 chr19 58453342 58453342 T C rs959231 ZNF256 Synonymous SNV Q278Q 0.263 0.263 0.235 92 309 101 0.236 69 43 12 10 7 2.512 34049 chr9 116044998 116044998 A G rs11552582 PRPF4 Synonymous SNV K155K 0.29 0.281 0.293 93 341 108 0.238 86 58 20 11 5 2.23 34050 chr1 64114301 64114301 T C rs11208257 PGM1 Nonsynonymous SNV Y438H 0.148 0.146 0.194 50 174 56 0.128 57 17 4 4 5 Benign 23.5 34051 chr19 58549237 58549237 C G rs537749775 ZSCAN1 Synonymous SNV P11P 0.009 0.005 0.01 0 10 2 0 3 0 0 0 0 3.172 34052 chr9 116060124 116060124 T C rs3750534 RNF183 Nonsynonymous SNV Q114R 0.299 0.294 0.289 95 351 113 0.244 85 59 20 10 5 0.003 34053 chr19 51022073 51022073 G A rs61745055 LRRC4B Synonymous SNV P299P 0.027 0.023 0.024 12 32 9 0.031 7 1 0 0 0 5.552 34054 chr8 145692918 145692918 G A rs35968570 KIFC2 Nonsynonymous SNV E174K 0.019 0.013 0.014 10 22 5 0.026 4 1 0 0 0 22.7 34055 chr19 55879672 55879672 C T rs4252548 IL11 Nonsynonymous SNV R33H 0.047 0.034 0.031 21 55 13 0.054 9 1 0 0 2 25.9 34056 chr19 53854397 53854397 G C rs10415799 ZNF845 Nonsynonymous SNV E157Q 0.339 0.331 0.354 128 398 127 0.328 104 70 21 15 18 0.174 34057 chr19 50104897 50104897 C T rs189937355 PRR12 Nonsynonymous SNV P1499S 0.024 0.018 0.003 7 28 7 0.018 1 0 0 0 0 8.881 34058 chr19 464000 464000 G A rs200025353 ODF3L2 Synonymous SNV P238P 0.007 0.01 0.017 9 8 4 0.023 5 0 0 0 0 0.407 34059 chr9 116060221 116060221 C T rs3750533 RNF183 Nonsynonymous SNV A82T 0.264 0.25 0.269 88 310 96 0.226 79 46 12 8 3 13.38 34060 chr8 145725527 145725527 C T rs1021276043 PPP1R16A Synonymous SNV D175D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.62 34061 chr9 116122954 116122954 A G rs752757 BSPRY Synonymous SNV K156K 0.288 0.263 0.252 109 338 101 0.279 74 56 17 9 19 7.839 34062 chr19 58596292 58596292 G A rs187288596 ZSCAN18 Synonymous SNV H295H 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 2.059 34063 chr19 56424532 56424532 G A rs731338 NLRP13 Synonymous SNV R217R 0.119 0.138 0.119 51 140 53 0.131 35 9 3 1 2 1.853 34064 chr19 51140654 51140654 G A rs3815749 SYT3 Synonymous SNV Y5Y 0.095 0.096 0.102 41 112 37 0.105 30 5 0 0 2 9.491 34065 chr9 116132275 116132275 G A rs3750529 BSPRY Synonymous SNV L359L 0.092 0.07 0.068 35 108 27 0.09 20 3 1 0 1 9.247 34066 chr1 65095158 65095158 G C rs182323946 CACHD1 Nonsynonymous SNV R213P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 32 34067 chr9 116181419 116181419 A G rs113088354 C9orf43 Nonsynonymous SNV I107V 0.051 0.036 0.051 24 60 14 0.062 15 1 0 1 1 13.33 34068 chr19 5867177 5867177 G A rs778970 FUT5 Nonsynonymous SNV P187L 0.457 0.424 0.422 175 536 163 0.449 124 129 28 26 38 10.3 34069 chr8 145730221 145730221 G A rs112574791 GPT Nonsynonymous SNV R107K 0.019 0.013 0.014 10 22 5 0.026 4 1 0 0 0 Benign 14.43 34070 chr19 54080067 54080067 T C rs61744130 ZNF331 Nonsynonymous SNV C85R 0.083 0.065 0.102 42 97 25 0.108 30 4 0 1 4 0.721 34071 chr19 51162203 51162203 G T C19orf81 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.9 34072 chr9 116224374 116224374 G T rs113565749 RGS3 Nonsynonymous SNV G103V 0.039 0.055 0.044 16 46 21 0.041 13 0 0 1 0 10.86 34073 chr19 5867191 5867191 G A rs10412834 FUT5 Synonymous SNV Y182Y 0.152 0.182 0.17 54 179 70 0.138 50 14 4 4 4 7.059 34074 chr19 51165775 51165775 G A rs117056219 SHANK1 Nonsynonymous SNV T1978M 0.009 0.003 0.02 4 10 1 0.01 6 0 0 0 0 19.39 34075 chr19 53761740 53761740 T C rs2965249 VN1R2 Nonsynonymous SNV C38R 0.21 0.188 0.248 84 247 72 0.215 73 49 15 16 14 0.066 34076 chr19 46518415 46518415 C G rs148795885 CCDC61 Synonymous SNV R220R 0.009 0.003 0.003 2 11 1 0.005 1 1 0 0 0 12.07 34077 chr9 116346287 116346287 C T rs3810927 RGS3 Synonymous SNV Y186Y 0.204 0.195 0.204 83 239 75 0.213 60 20 9 7 6 0.217 34078 chr9 116356373 116356373 G C rs12350531 RGS3 Synonymous SNV L58L 0.734 0.68 0.724 274 862 261 0.703 213 310 90 78 93 13.85 34079 chr1 6531593 6531593 C T rs376823275 PLEKHG5 Synonymous SNV T412T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 11.75 34080 chr9 116356516 116356516 A G rs12341266 RGS3 Nonsynonymous SNV Y106C 0.894 0.849 0.888 341 1050 326 0.874 261 471 138 116 149 2.03 34081 chr19 501719 501719 T C rs62130832 MADCAM1 Nonsynonymous SNV S240P 0.014 0.008 0 4 16 3 0.01 0 0 0 0 0 0.026 34082 chr19 46520069 46520069 C T rs144277506 CCDC61 Synonymous SNV R403R 0.032 0.031 0.014 8 38 12 0.021 4 1 0 0 0 11.65 34083 chr1 65523519 65523519 A G rs521188 MIR3671 0 0 0.071 0 0 0 0 21 0 0 0 0 2.305 34084 chr19 46520506 46520506 G C rs61742389 CCDC61 Nonsynonymous SNV G438R 0.034 0.031 0.027 8 40 12 0.021 8 1 0 0 0 0.099 34085 chr19 501738 501738 C A rs1063736 MADCAM1 Nonsynonymous SNV P246Q 0.023 0.023 0 12 27 9 0.031 0 1 1 0 0 1.273 34086 chr9 116356529 116356529 C G rs10817493 RGS3 Nonsynonymous SNV C110W 0.797 0.75 0.762 301 936 288 0.772 224 374 107 85 115 2.292 34087 chr19 58863449 58863449 C T rs4801579 A1BG-AS1 0.928 0.943 0.095 357 1089 362 0.915 28 503 171 14 163 0.157 34088 chr19 51171270 51171270 C T rs534920931 SHANK1 Nonsynonymous SNV G1316D 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 12.16 34089 chr19 56011915 56011915 G A rs61107130 SSC5D Synonymous SNV V787V 0.159 0.185 0.184 68 187 71 0.174 54 16 3 7 5 11.07 34090 chr1 66075952 66075952 G C rs1805094 LEPR Nonsynonymous SNV K656N 0.19 0.219 0.224 89 223 84 0.228 66 19 8 9 7 Benign/Likely benign 6.677 34091 chr19 50216774 50216774 C T rs772906026 CPT1C Nonsynonymous SNV S775L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.283 34092 chr19 54515415 54515415 G C rs12980121 CACNG6 Nonsynonymous SNV C181S 0.088 0.086 0.105 25 103 33 0.064 31 3 0 2 3 24.8 34093 chr9 116791161 116791161 T C rs7030167 ZNF618 Synonymous SNV C299C 0.798 0.768 0.755 312 937 295 0.8 222 378 110 86 129 13.35 34094 chr9 116931099 116931099 G A rs2241671 COL27A1 Nonsynonymous SNV A422T 0.471 0.471 0.51 180 553 181 0.462 150 137 43 34 44 0.001 34095 chr19 56552456 56552456 G T rs61732213 NLRP5 Synonymous SNV L985L 0.185 0.133 0.167 72 217 51 0.185 49 17 4 5 7 1.859 34096 chr19 46823702 46823702 A G rs3764609 HIF3A Nonsynonymous SNV Q274R 0.175 0.19 0.238 51 205 73 0.131 70 15 8 7 3 1.307 34097 chr19 53884039 53884039 C T rs144243902 ZNF525 Synonymous SNV I69I 0.043 0.049 0.031 22 50 19 0.056 9 0 0 0 1 8.96 34098 chr8 145806262 145806262 C T rs117042905 ARHGAP39 Synonymous SNV A160A 0.079 0.047 0.075 21 93 18 0.054 22 5 0 2 0 15.81 34099 chr9 117002517 117002517 C T rs2014134 COL27A1 Synonymous SNV I915I 0.29 0.286 0.293 97 340 110 0.249 86 52 13 12 15 20.6 34100 chr19 56565127 56565127 G A rs392801 NLRP5 Synonymous SNV A1084A 0.221 0.177 0.204 81 259 68 0.208 60 28 3 8 9 7.575 34101 chr19 46823751 46823751 C T rs3764610 HIF3A Synonymous SNV H290H 0.164 0.185 0.224 50 192 71 0.128 66 13 8 6 3 9.974 34102 chr8 145830988 145830988 C T rs61734975 ARHGAP39 Synonymous SNV T4T 0.026 0.039 0.034 11 31 15 0.028 10 1 0 0 0 10.94 34103 chr19 56030009 56030009 C T rs925878 SSC5D Nonsynonymous SNV P1456S 0.171 0.12 0.187 64 201 46 0.164 55 10 2 7 6 4.698 34104 chr9 117033022 117033022 T C rs4143245 COL27A1 Synonymous SNV L1190L 0.412 0.411 0.398 133 484 158 0.341 117 101 36 25 28 0.133 34105 chr8 146032842 146032842 G A rs62531506 ZNF517 Nonsynonymous SNV V174M 0.106 0.151 0.085 60 125 58 0.154 25 8 8 1 2 10.24 34106 chr9 117044751 117044751 T C rs2787330 COL27A1 Synonymous SNV Y1262Y 0.784 0.797 0.789 315 920 306 0.808 232 360 120 92 124 0.856 34107 chr9 117045997 117045997 G A rs113772516 COL27A1 Synonymous SNV P1296P 0.017 0.01 0.02 4 20 4 0.01 6 0 0 0 0 10.63 34108 chr19 46973556 46973556 T C rs767813243 PNMA8A Nonsynonymous SNV Q246R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.8 34109 chr19 56569629 56569629 C G rs12462795 NLRP5 Nonsynonymous SNV S1108C 0.152 0.133 0.15 58 178 51 0.149 44 10 3 0 3 22.8 34110 chr9 117103973 117103973 A G rs2250242 AKNA Nonsynonymous SNV S1184P 0.46 0.461 0.422 175 540 177 0.449 124 129 44 30 34 0.055 34111 chr19 5892954 5892954 T C rs1678868 NDUFA11 Nonsynonymous SNV T221A 0.411 0.396 0.32 169 483 152 0.433 94 107 30 12 40 0.016 34112 chr19 50713713 50713713 C A rs590722 MYH14 Nonsynonymous SNV P31T 0.118 0.094 0.126 43 138 36 0.11 37 8 2 5 3 Benign 9.327 34113 chr19 51322484 51322484 T A rs56349210 KLK1 Nonsynonymous SNV K252M 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 10.34 34114 chr9 117110046 117110046 C T rs3748178 AKNA Nonsynonymous SNV R1000Q 0.193 0.203 0.218 71 227 78 0.182 64 49 12 9 8 22.8 34115 chr19 50720949 50720949 G A rs34773557 MYH14 Nonsynonymous SNV M161I 0.007 0.005 0.027 3 8 2 0.008 8 0 0 0 0 Benign 28.7 34116 chr19 56572875 56572875 G A rs36118060 NLRP5 Nonsynonymous SNV R1195Q 0.152 0.133 0.15 58 179 51 0.149 44 10 3 0 3 17.04 34117 chr9 117122202 117122202 C T rs3748177 AKNA Synonymous SNV E636E 0.575 0.568 0.578 235 675 218 0.603 170 190 63 51 65 6.094 34118 chr19 59023166 59023166 G A rs34415062 SLC27A5 Nonsynonymous SNV R53W 0.236 0.198 0.221 104 277 76 0.267 65 29 9 8 16 Benign 1.285 34119 chr1 67236097 67236097 A T rs1060575 TCTEX1D1 Nonsynonymous SNV E49D 0.126 0.138 0.194 39 148 53 0.1 57 11 7 6 2 0.027 34120 chr9 117124731 117124731 G A rs3748176 AKNA Nonsynonymous SNV P505L 0.572 0.565 0.575 235 671 217 0.603 169 189 63 51 65 8.587 34121 chr19 50755955 50755955 C T rs77895476 MYH14 Synonymous SNV V622V 0.007 0.01 0.024 3 8 4 0.008 7 0 0 0 0 Benign/Likely benign 13.07 34122 chr1 67242087 67242087 G A rs3816989 TCTEX1D1 0.137 0.146 0.194 40 161 56 0.103 57 11 7 6 2 26.3 34123 chr19 56658412 56658412 G A rs570897855 ZNF444 Synonymous SNV L44L 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 11.25 34124 chr19 59023174 59023174 A G rs35350976 SLC27A5 Nonsynonymous SNV M50T 0.235 0.198 0.228 104 276 76 0.267 67 29 9 8 16 Benign 0.004 34125 chr9 117166206 117166206 G T rs2274158 WHRN Nonsynonymous SNV N445K 0.202 0.198 0.184 83 237 76 0.213 54 23 3 6 9 Benign 0.001 34126 chr19 59074653 59074653 T C rs4756 MZF1 Nonsynonymous SNV I331V 0.271 0.25 0.259 118 318 96 0.303 76 34 12 13 18 0.003 34127 chr19 54579591 54579592 TT - TARM1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34128 chr9 117166246 117166246 A G rs2274159 WHRN Nonsynonymous SNV V432A 0.515 0.492 0.51 197 605 189 0.505 150 148 47 43 45 Benign 0.046 34129 chr19 5908969 5908969 G A rs10404195 VMAC Nonsynonymous SNV R109H 0.153 0.182 0.241 71 180 70 0.182 71 18 3 7 9 7.821 34130 chr9 286593 286593 C A rs529208 DOCK8 Nonsynonymous SNV P29T 0.473 0.479 0.486 181 555 184 0.464 143 139 48 36 45 Benign 23.6 34131 chr19 56717333 56717333 C A rs111438429 ZSCAN5C Nonsynonymous SNV S17R 0.128 0.094 0.146 51 150 36 0.131 43 10 0 4 4 0.003 34132 chr9 117166311 117166311 G A rs34963246 WHRN Synonymous SNV S410S 0.057 0.034 0.031 18 67 13 0.046 9 3 0 0 0 Benign/Likely benign 12.68 34133 chr9 117166338 117166338 G C rs6478078 WHRN Nonsynonymous SNV H401Q 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 4.44 34134 chr19 605171 605171 T C rs12981860 HCN2 Synonymous SNV P389P 0.568 0.612 0.207 224 667 235 0.574 61 200 72 27 60 8.968 34135 chr9 312134 312134 G A rs11789099 DOCK8 Nonsynonymous SNV E169K 0.039 0.047 0.027 22 46 18 0.056 8 2 2 0 0 Benign 25.7 34136 chr9 117169033 117169033 A G rs942519 WHRN Nonsynonymous SNV M262T 0.544 0.531 0.534 214 639 204 0.549 157 165 54 49 53 Benign 0.002 34137 chr19 56160797 56160797 G A rs148385298 CCDC106 Nonsynonymous SNV A19T 0.01 0 0 3 12 0 0.008 0 0 0 0 0 0.004 34138 chr9 117170241 117170241 G C rs12339210 WHRN Nonsynonymous SNV P211A 0.106 0.115 0.085 49 125 44 0.126 25 4 1 1 2 Benign 17.71 34139 chr19 6466482 6466482 A G rs348362 CRB3 Synonymous SNV P54P 0.527 0.531 0.483 199 619 204 0.51 142 172 53 35 55 0.047 34140 chr19 6468331 6468331 T C rs62107586 DENND1C Nonsynonymous SNV M525V 0.377 0.357 0.313 148 443 137 0.379 92 85 23 12 30 0.001 34141 chr9 117186677 117186677 A G rs4979387 WHRN Synonymous SNV G100G 0.767 0.768 0.68 311 901 295 0.797 200 352 111 84 124 Benign 11.95 34142 chr9 117186712 117186712 C T rs4978584 WHRN Nonsynonymous SNV A89T 0.202 0.208 0.163 84 237 80 0.215 48 22 3 5 9 Benign 22.1 34143 chr19 54677897 54677897 G A rs10416555 MBOAT7 Synonymous SNV A347A 0.162 0.169 0.201 59 190 65 0.151 59 18 6 4 4 3.798 34144 chr19 652238 652238 A G rs11554788 RNF126 Synonymous SNV L65L 0.418 0.385 0.187 170 491 148 0.436 55 105 31 21 37 0.891 34145 chr9 117188566 117188566 C T rs10817610 WHRN Nonsynonymous SNV R364H 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 19.6 34146 chr19 54711329 54711329 C T rs4838 RPS9 Synonymous SNV I116I 0.072 0.083 0.034 34 84 32 0.087 10 4 0 0 1 18.4 34147 chr9 117266965 117266965 C T rs2297815 WHRN Synonymous SNV V39V 0.37 0.333 0.31 109 434 128 0.279 91 73 15 15 17 Benign 12.87 34148 chr19 56895496 56895496 C T rs12978696 ZNF582 Synonymous SNV K461K 0.159 0.154 0.187 74 187 59 0.19 55 14 3 8 2 15.3 34149 chr9 841971 841971 T A rs3739583 DMRT1 Nonsynonymous SNV S45T 0.153 0.159 0.133 70 180 61 0.179 39 19 5 4 6 0.021 34150 chr19 50985139 50985139 G A rs200797859 EMC10 Nonsynonymous SNV A234T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 34151 chr9 117428960 117428960 T C rs1055207 TEX48 Nonsynonymous SNV H109R 0.61 0.591 0.599 258 716 227 0.662 176 215 70 54 91 4.023 34152 chr19 56934795 56934795 G A rs116332236 ZNF583 Synonymous SNV A256A 0.017 0.01 0.003 3 20 4 0.008 1 0 0 0 0 9.094 34153 chr19 6702157 6702157 C G rs428453 C3 Synonymous SNV V807V 0.694 0.706 0.663 256 815 271 0.656 195 294 96 61 83 Benign 3.432 34154 chr9 990840 990840 C T rs7021244 DMRT3 Synonymous SNV V418V 0.224 0.245 0.255 107 263 94 0.274 75 35 12 10 18 10.76 34155 chr9 117430524 117430524 G A rs2296947 TEX48 Nonsynonymous SNV T74I 0.388 0.37 0.35 152 456 142 0.39 103 89 28 18 25 2.702 34156 chr1 71536574 71536574 G C rs11583800 ZRANB2 Nonsynonymous SNV R207G 0.112 0.063 0.143 50 131 24 0.128 42 6 0 4 3 23.2 34157 chr9 117430611 117430611 A T rs1359992 TEX48 Nonsynonymous SNV L45Q 0.647 0.609 0.643 261 759 234 0.669 189 239 72 63 86 5.162 34158 chr19 6709704 6709704 C T rs2230205 C3 Synonymous SNV T612T 0.126 0.12 0.116 41 148 46 0.105 34 9 2 1 1 Benign 12.35 34159 chr19 5693638 5693638 G A rs140893513 LONP1 Synonymous SNV A625A 0.013 0.01 0.003 0 15 4 0 1 0 0 0 0 12.57 34160 chr19 54573300 54573300 C T rs139802953 TARM1 Nonsynonymous SNV R258Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.039 34161 chr9 117433685 117433685 C T rs2296948 TEX48 Synonymous SNV Q35Q 0.606 0.586 0.602 256 712 225 0.656 177 204 67 51 84 6.498 34162 chr19 6713291 6713291 C T rs2230201 C3 Synonymous SNV R304R 0.137 0.135 0.122 50 161 52 0.128 36 12 3 2 2 Benign 5.368 34163 chr9 117552885 117552885 T C rs3810936 TNFSF15 Synonymous SNV V142V 0.7 0.711 0.697 249 822 273 0.638 205 278 101 74 79 0.472 34164 chr19 54599222 54599222 G T rs61742144 OSCAR Synonymous SNV P179P 0.106 0.125 0.088 38 125 48 0.097 26 6 4 3 4 7.501 34165 chr9 1056959 1056959 G C rs17641078 DMRT2 Nonsynonymous SNV E284Q 0.133 0.141 0.16 49 156 54 0.126 47 16 3 1 3 25 34166 chr9 117668142 117668142 C T rs3181195 TNFSF8 Synonymous SNV R92R 0.392 0.378 0.442 155 460 145 0.397 130 89 26 27 35 15.21 34167 chr19 4816719 4816719 G A rs2292151 TICAM1 Synonymous SNV D557D 0.211 0.255 0.269 70 248 98 0.179 79 20 13 10 3 Benign 5.529 34168 chr9 2039793 2039793 A C rs62534884 SMARCA2 Nonsynonymous SNV Q228P 0.087 0.104 0.061 34 102 40 0.087 18 1 1 0 2 Benign 5.289 34169 chr9 117840334 117840334 G A rs61739209 TNC Synonymous SNV D854D 0.067 0.094 0.051 21 79 36 0.054 15 1 0 0 1 Benign 10.59 34170 chr19 56392920 56392920 C T rs12975929 NLRP4 Synonymous SNV D984D 0.176 0.156 0.19 67 207 60 0.172 56 19 6 8 4 11.24 34171 chr9 117846570 117846570 C T rs2274836 TNC Synonymous SNV E683E 0.377 0.365 0.381 144 443 140 0.369 112 83 31 22 28 14.23 34172 chr9 2622146 2622146 - CGG rs555425887 VLDLR-AS1 0.158 0.154 0.194 68 186 59 0.174 57 48 14 13 17 34173 chr19 57050515 57050515 C G rs7258088 ZFP28 Nonsynonymous SNV A43G 0.246 0.25 0.33 120 289 96 0.308 97 41 14 12 13 8.423 34174 chr9 117846580 117846580 T C rs1061494 TNC Nonsynonymous SNV Q680R 0.472 0.513 0.432 187 554 197 0.479 127 131 50 27 41 0.672 34175 chr9 2717922 2717922 C G rs10967705 KCNV2 Synonymous SNV G61G 0.522 0.521 0.551 154 613 200 0.395 162 170 46 46 36 Benign 1.837 34176 chr19 54848741 54848741 T C rs12985462 LILRA4 Synonymous SNV R294R 0.221 0.177 0.163 86 259 68 0.221 48 25 4 4 10 0.446 34177 chr19 6751279 6751279 A G rs1049229 TRIP10 Nonsynonymous SNV E575G 0.191 0.208 0.16 87 224 80 0.223 47 19 8 6 11 Benign 6.979 34178 chr9 2718498 2718498 A G rs10967709 KCNV2 Synonymous SNV P253P 0.083 0.115 0.116 32 97 44 0.082 34 5 5 1 2 Benign 0.027 34179 chr9 117848394 117848394 T C rs1757095 TNC Nonsynonymous SNV Q539R 0.902 0.906 0.884 350 1059 348 0.897 260 477 157 114 157 0.001 34180 chr9 2718534 2718534 C G rs12237048 KCNV2 Synonymous SNV A265A 0.442 0.401 0.432 122 519 154 0.313 127 121 32 28 17 Benign 9.524 34181 chr19 6751281 6751281 C T rs1049230 TRIP10 Nonsynonymous SNV P576S 0.191 0.208 0.16 87 224 80 0.223 47 19 8 6 11 Benign 8.607 34182 chr9 117849314 117849314 T C rs2992147 TNC Synonymous SNV V232V 0.473 0.513 0.432 187 555 197 0.479 127 132 50 27 41 0.003 34183 chr19 6751293 6751293 T G rs1049232 TRIP10 Nonsynonymous SNV C580G 0.191 0.208 0.156 87 224 80 0.223 46 19 8 6 11 Benign 12.2 34184 chr19 51563265 51563265 G A rs34089525 KLK13 Nonsynonymous SNV H109Y 0.031 0.026 0.051 9 36 10 0.023 15 0 0 0 0 14.9 34185 chr9 117853022 117853022 C T rs944510 TNC Synonymous SNV V92V 0.473 0.516 0.429 184 555 198 0.472 126 134 52 26 39 12.1 34186 chr19 54675643 54675643 G A rs77215230 TMC4 Nonsynonymous SNV H103Y 0.16 0.164 0.153 59 188 63 0.151 45 18 6 4 4 9.049 34187 chr19 54940514 54940514 T C rs113234225 TTYH1 Nonsynonymous SNV V255A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 34188 chr9 118163563 118163563 C T rs2269700 DEC1 0.633 0.602 0.646 247 743 231 0.633 190 245 72 59 80 5.393 34189 chr19 6755007 6755007 T C rs2305806 SH2D3A Synonymous SNV T272T 0.264 0.284 0.235 126 310 109 0.323 69 42 14 8 22 0.012 34190 chr9 3879466 3879466 T C rs750346762 GLIS3 Nonsynonymous SNV Q598R 0.003 0.013 0 4 3 5 0.01 0 0 0 0 0 17.18 34191 chr19 57133876 57133876 G A rs139192184 ZNF71 Synonymous SNV E407E 0.026 0.023 0.02 4 31 9 0.01 6 0 0 0 0 10.04 34192 chr19 51607507 51607507 G A rs17855403 CTU1 Nonsynonymous SNV A107V 0.102 0.115 0.085 49 120 44 0.126 25 11 3 2 1 22.5 34193 chr19 680378 680378 C T rs7246311 FSTL3 Synonymous SNV L132L 0.349 0.391 0.306 156 410 150 0.4 90 101 45 23 33 12.79 34194 chr9 118949998 118949998 C T rs12375498 PAPPA Synonymous SNV C327C 0.192 0.224 0.197 83 225 86 0.213 58 27 10 8 8 8.694 34195 chr9 119106881 119106881 C A rs7020782 PAPPA Nonsynonymous SNV S1224Y 0.692 0.69 0.748 263 812 265 0.674 220 280 94 83 88 17.94 34196 chr1 75172652 75172652 T C rs17552114 CRYZ Synonymous SNV E116E 0.049 0.063 0.041 27 58 24 0.069 12 3 0 0 0 9.335 34197 chr19 48248924 48248924 G A rs3181870 NOP53 Synonymous SNV R36R 0.025 0.036 0.027 21 29 14 0.054 8 2 0 0 0 12.78 34198 chr9 119158814 119158814 T C rs8456 PAPPA Synonymous SNV D1601D 0.645 0.62 0.646 256 757 238 0.656 190 254 73 62 86 0.064 34199 chr19 6896483 6896483 G A rs330877 ADGRE1 Nonsynonymous SNV A57T 0.313 0.359 0.31 140 367 138 0.359 91 58 23 14 20 0.001 34200 chr9 4564432 4564432 G A rs2228622 SLC1A1 Synonymous SNV T138T 0.512 0.505 0.527 198 601 194 0.508 155 150 50 44 46 Benign 14.38 34201 chr9 119495697 119495697 T C rs7863560 ASTN2 Synonymous SNV P783P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.124 34202 chr19 48248925 48248925 C A rs144346550 NOP53 Synonymous SNV R37R 0.025 0.036 0.027 21 29 14 0.054 8 2 0 0 0 20.3 34203 chr19 54968976 54968976 G A rs368738531 LENG8 Synonymous SNV Q594Q 0.013 0.008 0 5 15 3 0.013 0 1 0 0 0 3.386 34204 chr9 119770480 119770480 C T rs3761845 ASTN2 Synonymous SNV P443P 0.539 0.521 0.514 203 633 200 0.521 151 169 52 35 55 16.17 34205 chr9 120053776 120053776 T C rs7848630 ASTN2 Synonymous SNV A153A 0.986 0.982 0.983 387 1158 377 0.992 289 571 185 142 192 4.337 34206 chr1 75699771 75699771 A G rs10493565 SLC44A5 Synonymous SNV I245I 0.246 0.258 0.306 91 289 99 0.233 90 47 11 14 7 3.125 34207 chr9 122001000 122001000 G A rs2274157 BRINP1 Synonymous SNV S206S 0.55 0.586 0.527 214 646 225 0.549 155 179 64 40 58 12.32 34208 chr19 48305543 48305566 GGGCCTGGGATCGGGCCTGGGTTC - rs767033738 TPRX1 N235_P242del 0.053 0.089 0.065 29 62 34 0.074 19 6 5 2 1 34209 chr19 48305579 48305602 GGGCCTGGGATTGGGCCTGGGATC - rs770166626 TPRX1 P224_I231del 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 34210 chr19 48305651 48305651 G A rs62130758 TPRX1 Nonsynonymous SNV P206L 0.211 0.193 0.16 90 248 74 0.231 47 58 11 12 15 13.54 34211 chr9 123170733 123170733 C G rs4837768 CDK5RAP2 Nonsynonymous SNV V1310L 0.735 0.698 0.745 297 863 268 0.762 219 313 90 80 112 Benign 12.1 34212 chr1 76209754 76209754 G A rs12123977 DLSTP1 0 0 0.262 0 0 0 0 77 0 0 6 0 16.42 34213 chr1 76209792 76209792 T C rs1146579 DLSTP1 0 0 0.289 0 0 0 0 85 0 0 10 0 14.6 34214 chr9 123291036 123291036 C G rs4836822 CDK5RAP2 Nonsynonymous SNV E289Q 0.919 0.904 0.939 358 1079 347 0.918 276 496 159 129 164 Benign 18.25 34215 chr9 5050706 5050706 C T rs2230722 JAK2 Synonymous SNV H14H 0.28 0.31 0.231 125 329 119 0.321 68 53 18 8 18 Benign 15.07 34216 chr9 5054877 5054877 C T rs746340189 JAK2 Nonsynonymous SNV T161I 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 18.75 34217 chr1 76378502 76378502 G A rs5745549 MSH4 Nonsynonymous SNV S914N 0.029 0.039 0.024 18 34 15 0.046 7 1 0 0 0 12.33 34218 chr9 123367681 123367681 C G rs56019987 MEGF9 Synonymous SNV V532V 0.076 0.06 0.037 24 89 23 0.062 11 3 0 1 1 5.698 34219 chr19 6921868 6921868 G A rs7256147 ADGRE1 Nonsynonymous SNV V448I 0.244 0.234 0.272 88 287 90 0.226 80 34 11 11 7 0.016 34220 chr19 55098667 55098667 G A rs2241524 LILRA2 0.026 0.008 0.014 5 30 3 0.013 4 1 0 0 0 0.002 34221 chr9 5081780 5081780 G A rs2230724 JAK2 Synonymous SNV L681L 0.5 0.51 0.469 196 587 196 0.503 138 144 44 32 51 Benign 6.001 34222 chr9 123476543 123476548 CGGCGG - rs369989873 MEGF9 A30_A31del 0.664 0.677 0.69 277 779 260 0.71 203 272 88 73 96 34223 chr1 77093176 77093176 C G rs146974011 ST6GALNAC3 Synonymous SNV T156T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.687 34224 chr1 77093180 77093180 C A rs1184626 ST6GALNAC3 Nonsynonymous SNV L158I 0.392 0.445 0.378 151 460 171 0.387 111 102 34 16 33 10.72 34225 chr9 123671520 123671520 G A rs2239657 TRAF1 Synonymous SNV P218P 0.727 0.732 0.704 294 853 281 0.754 207 314 101 70 107 Benign 10.65 34226 chr19 56549532 56549532 A G rs306447 NLRP5 Synonymous SNV R919R 0.218 0.237 0.259 82 256 91 0.21 76 26 11 8 8 0.016 34227 chr9 5231712 5231712 T A rs12720 INSL4 Synonymous SNV R63R 0.244 0.242 0.231 110 287 93 0.282 68 39 11 10 17 1.49 34228 chr1 7723534 7723534 G A rs3737907 CAMTA1 Synonymous SNV S279S 0.063 0.086 0.075 33 74 33 0.085 22 1 0 0 0 0.054 34229 chr9 123782299 123782299 G A rs2230214 C5 Synonymous SNV T493T 0.094 0.083 0.078 37 110 32 0.095 23 6 1 1 3 Benign 9.619 34230 chr19 51981946 51981946 T C rs75588884 CEACAM18 Nonsynonymous SNV M17T 0.065 0.089 0.051 27 76 34 0.069 15 2 2 0 1 0.001 34231 chr1 7723957 7723957 G A rs12128526 CAMTA1 Synonymous SNV S420S 0.359 0.383 0.405 152 422 147 0.39 119 86 30 21 29 Likely benign 7.135 34232 chr9 123783934 123783934 T C rs10985126 C5 Synonymous SNV G391G 0.141 0.125 0.129 52 166 48 0.133 38 14 1 1 5 Benign 0.956 34233 chr19 7524846 7524846 C T rs2287914 ARHGEF18 Synonymous SNV V564V 0.246 0.242 0.245 96 289 93 0.246 72 36 8 8 13 9.624 34234 chr19 51983673 51983673 G A rs61743859 CEACAM18 Nonsynonymous SNV V47M 0.295 0.289 0.303 112 346 111 0.287 89 50 18 15 22 13.07 34235 chr9 123850770 123850770 G A rs10818503 CNTRL Nonsynonymous SNV V56I 0.712 0.703 0.67 285 836 270 0.731 197 303 95 62 100 10.52 34236 chr19 7524855 7524855 C T rs2287915 ARHGEF18 Synonymous SNV R567R 0.24 0.245 0.235 95 282 94 0.244 69 35 8 8 13 11.27 34237 chr19 55418054 55418054 A C rs2278428 NCR1 Nonsynonymous SNV K82Q 0.116 0.133 0.15 42 136 51 0.108 44 4 1 3 3 0.013 34238 chr1 78098403 78098403 T C rs34535037 ZZZ3 Nonsynonymous SNV I213V 0.049 0.036 0.037 16 57 14 0.041 11 1 1 0 0 0.037 34239 chr9 123886277 123886277 A G rs62578445 CNTRL Synonymous SNV Q21Q 0.057 0.044 0.054 19 67 17 0.049 16 2 0 0 0 6.549 34240 chr19 51984656 51984656 G A rs62115071 CEACAM18 Nonsynonymous SNV S137N 0.224 0.221 0.265 97 263 85 0.249 78 37 7 7 20 0.005 34241 chr9 6007500 6007500 G A rs1061767 KIAA2026 Synonymous SNV G96G 0.152 0.13 0.133 53 179 50 0.136 39 15 5 5 4 10.37 34242 chr9 124083614 124083614 C T rs2304393 GSN Synonymous SNV G471G 0.082 0.068 0.065 37 96 26 0.095 19 3 1 0 2 Benign 12.89 34243 chr19 57723007 57723007 G C rs2074858 ZNF264 Nonsynonymous SNV R181T 0.599 0.594 0.633 218 703 228 0.559 186 214 68 62 57 0.006 34244 chr19 7532252 7532252 G C rs2303142 ARHGEF18 Synonymous SNV A812A 0.246 0.245 0.207 95 289 94 0.244 61 35 8 7 13 4.934 34245 chr9 6007667 6007667 G A KIAA2026 Nonsynonymous SNV P41S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 5.297 34246 chr9 124855211 124855211 C T rs61742319 TTLL11 Nonsynonymous SNV A163T 0.25 0.273 0.255 100 294 105 0.256 75 40 13 11 14 9.308 34247 chr1 7880683 7880683 T G rs10462020 PER3 Nonsynonymous SNV V647G 0.152 0.172 0.122 69 178 66 0.177 36 16 6 1 8 10.08 34248 chr19 57723013 57723013 G A rs917340 ZNF264 Nonsynonymous SNV R183H 0.6 0.594 0.633 218 704 228 0.559 186 215 68 62 57 0.504 34249 chr9 6253571 6253571 C T rs10975519 IL33 Synonymous SNV Y37Y 0.368 0.333 0.378 151 432 128 0.387 111 82 26 18 27 8.152 34250 chr9 124855330 124855330 - TGGCCT rs201653732 TTLL11 A122_T123insKA 0.216 0.245 0.245 93 254 94 0.238 72 30 11 9 12 34251 chr19 51986547 51986547 A G rs10426247 CEACAM18 Nonsynonymous SNV H317R 0.279 0.26 0.316 107 328 100 0.274 93 46 15 17 18 0.001 34252 chr9 124914613 124914613 C T rs4679 NDUFA8 Synonymous SNV E42E 0.604 0.581 0.602 204 709 223 0.523 177 214 61 51 54 18.12 34253 chr19 5772950 5772950 G A rs61180947 CATSPERD Nonsynonymous SNV G639R 0.137 0.141 0.105 50 161 54 0.128 31 15 2 1 1 8.716 34254 chr19 54973307 54973307 C T rs115799049 LENG9 Nonsynonymous SNV G490E 0.033 0.034 0.048 13 39 13 0.033 14 0 1 2 0 0.129 34255 chr1 7890064 7890064 A G rs12023156 PER3, PER3 Synonymous SNV T1019T 0.335 0.331 0.354 148 393 127 0.379 104 67 18 15 29 0.064 34256 chr9 125133479 125133479 T C rs1236913 PTGS1 Nonsynonymous SNV W8R 0.935 0.961 0.813 370 1098 369 0.949 239 514 177 115 176 0.101 34257 chr19 51988280 51988280 G A rs10414941 CEACAM18 Nonsynonymous SNV G337E 0.279 0.26 0.316 107 328 100 0.274 93 46 15 17 18 1.363 34258 chr19 756985 756985 T G rs8110536 MISP Synonymous SNV P13P 0.147 0.148 0.129 57 172 57 0.146 38 16 4 1 5 0.247 34259 chr19 54973429 54973429 G A rs116688678 LENG9 Synonymous SNV T449T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.324 34260 chr9 6620216 6620216 C T rs13289273 GLDC Synonymous SNV T146T 0.051 0.055 0.034 17 60 21 0.044 10 2 0 0 0 Benign 17.01 34261 chr9 125239253 125239253 T C rs1962091 OR1J1 Nonsynonymous SNV N318S 0.392 0.378 0.429 158 460 145 0.405 126 86 21 31 31 0.001 34262 chr19 51988326 51988326 T C rs10416318 CEACAM18 Synonymous SNV V352V 0.279 0.26 0.313 107 327 100 0.274 92 46 15 17 18 2.783 34263 chr19 57760018 57760018 G A rs2014572 ZNF805 Nonsynonymous SNV G68E 0.511 0.474 0.497 210 600 182 0.538 146 154 43 39 61 11.28 34264 chr1 7897133 7897133 A G rs10462021 PER3 Nonsynonymous SNV H1158R 0.144 0.164 0.122 66 169 63 0.169 36 16 6 1 8 1.72 34265 chr9 6645251 6645251 C T rs12341698 GLDC Synonymous SNV G83G 0.224 0.219 0.204 90 263 84 0.231 60 35 15 4 14 Benign 16.78 34266 chr19 52000187 52000187 C T rs61743142 SIGLEC12 Nonsynonymous SNV V398M 0.047 0.065 0.014 25 55 25 0.064 4 1 0 0 0 15.68 34267 chr9 125315557 125315557 T C rs1831370 OR1N2 Nonsynonymous SNV W23R 0.531 0.547 0.541 208 623 210 0.533 159 169 56 41 55 0.01 34268 chr19 57760057 57760057 G A rs3746231 ZNF805 Nonsynonymous SNV G81D 0.511 0.474 0.497 210 600 182 0.538 146 154 43 39 61 0.067 34269 chr19 7593589 7593589 C T rs612862 MCOLN1 Synonymous SNV N328N 0.417 0.411 0.412 159 489 158 0.408 121 103 32 27 35 Benign 8.649 34270 chr9 125315778 125315778 G C rs1411271 OR1N2 Synonymous SNV S96S 0.531 0.547 0.541 208 623 210 0.533 159 169 56 41 55 11.76 34271 chr19 5776201 5776201 C T rs2290778 CATSPERD Synonymous SNV N657N 0.032 0.031 0.041 18 38 12 0.046 12 1 0 1 0 2.158 34272 chr9 7174673 7174673 G A rs913588 KDM4C Nonsynonymous SNV V784I 0.415 0.411 0.439 180 487 158 0.462 129 109 33 25 35 14.82 34273 chr19 7606908 7606908 G C rs17854645 PNPLA6 Nonsynonymous SNV A403P 0.262 0.276 0.262 109 308 106 0.279 77 48 19 10 20 Benign 20.1 34274 chr9 125316033 125316033 T C rs1341042 OR1N2 Synonymous SNV Y181Y 0.531 0.547 0.541 208 623 210 0.533 159 169 56 41 55 0.089 34275 chr19 57764770 57764770 G A rs10421632 ZNF805 Nonsynonymous SNV V62I 0.511 0.474 0.5 210 600 182 0.538 147 154 43 40 61 0.001 34276 chr19 55044001 55044001 A G rs148691019 KIR3DX1 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 1.748 34277 chr9 125316042 125316042 T C rs1341043 OR1N2 Synonymous SNV P184P 0.531 0.547 0.541 208 623 210 0.533 159 169 56 41 55 2.463 34278 chr1 79107476 79107476 G A rs200301854 IFI44L Synonymous SNV A447A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.506 34279 chr9 125316179 125316179 T G rs1341044 OR1N2 Nonsynonymous SNV V230G 0.784 0.771 0.81 309 921 296 0.792 238 362 111 96 125 11.82 34280 chr19 57765432 57765432 A G rs8100154 ZNF805 Synonymous SNV K282K 0.516 0.482 0.503 211 606 185 0.541 148 158 43 40 61 0.607 34281 chr9 8465598 8465598 A G rs2281747 PTPRD Synonymous SNV A773A 0.14 0.174 0.146 55 164 67 0.141 43 15 9 4 5 10.02 34282 chr19 48733928 48733928 C T rs201339858 CARD8 Nonsynonymous SNV V218I 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 6.68 34283 chr9 8518052 8518052 G C rs10977171 PTPRD Nonsynonymous SNV Q437E 0.037 0.042 0.037 15 43 16 0.038 11 2 1 0 0 17.99 34284 chr9 125316350 125316350 C T rs1411272 OR1N2 Nonsynonymous SNV T287M 0.59 0.594 0.575 237 693 228 0.608 169 209 67 47 71 15.14 34285 chr9 125330125 125330125 C G rs10739614 OR1L8 Nonsynonymous SNV R211P 0.65 0.659 0.636 258 763 253 0.662 187 253 80 55 89 1.982 34286 chr19 5783634 5783634 T C rs2446210 PRR22 Synonymous SNV P208P 0.136 0.148 0.245 65 160 57 0.167 72 25 12 10 10 0.033 34287 chr1 82456419 82456419 G A rs149473672 ADGRL2 Nonsynonymous SNV E1268K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 34288 chr19 48785677 48785677 G A rs374710014 ZNF114 Stop gain W20X 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 35 34289 chr19 7831047 7831047 G A rs868878 CLEC4M Synonymous SNV K218K 0.187 0.169 0.15 86 220 65 0.221 44 19 6 0 10 6.051 34290 chr9 125330678 125330678 T G rs10985704 OR1L8 Nonsynonymous SNV T27P 0.597 0.62 0.605 232 701 238 0.595 178 215 70 50 72 11.36 34291 chr19 48800333 48800333 G A rs74925056 CCDC114 Nonsynonymous SNV S638L 0.037 0.044 0.031 18 43 17 0.046 9 0 0 0 0 Benign 16.44 34292 chr1 82456772 82456772 G A ADGRL2 Synonymous SNV G1385G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.523 34293 chr9 13150531 13150531 T C rs10756457 MPDZ Synonymous SNV K1203K 0.365 0.375 0.313 136 428 144 0.349 92 77 20 16 19 Benign 0.082 34294 chr9 125330739 125330739 G A rs1999182 OR1L8 Synonymous SNV H6H 0.587 0.607 0.578 226 689 233 0.579 170 214 69 50 68 4.95 34295 chr9 13176312 13176312 C T rs2274856 MPDZ Synonymous SNV S918S 0.255 0.266 0.265 95 299 102 0.244 78 38 8 11 8 Benign 10.4 34296 chr1 8403969 8403969 G A SLC45A1 Nonsynonymous SNV V749M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 34297 chr9 125377087 125377087 A G rs972925 OR1Q1 Nonsynonymous SNV Q24R 0.757 0.755 0.714 303 889 290 0.777 210 340 109 74 118 14.02 34298 chr9 13205035 13205037 CTT - rs746069416 MPDZ E515del 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 34299 chr19 57839675 57839675 C T rs139627487 ZNF543 Nonsynonymous SNV P282L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.7 34300 chr9 125377505 125377505 A G rs1329957 OR1Q1 Nonsynonymous SNV I163M 0.895 0.875 0.895 349 1051 336 0.895 263 474 148 117 157 0.002 34301 chr1 8419869 8419874 CTCCTT - rs147985313 RERE K636_E637del 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 34302 chr9 14770658 14770658 G T rs17219005 FREM1 Synonymous SNV I204I 0.311 0.318 0.303 134 365 122 0.344 89 45 20 15 18 Benign 6.762 34303 chr9 125390874 125390874 A C rs1556189 OR1B1 Nonsynonymous SNV V314G 0.737 0.734 0.697 292 865 282 0.749 205 328 105 69 108 0.084 34304 chr19 804327 804327 C T rs10420953 PTBP1 Synonymous SNV N108N 0.125 0.143 0.112 58 147 55 0.149 33 10 4 2 1 11.55 34305 chr19 57132874 57132874 C G rs28619077 ZNF71 Synonymous SNV P73P 0.009 0 0.007 3 10 0 0.008 2 0 0 0 0 9.171 34306 chr19 804396 804396 C T rs3180287 PTBP1 Synonymous SNV S131S 0.095 0.07 0.085 28 112 27 0.072 25 4 0 1 1 13.57 34307 chr19 52034506 52034506 C T rs60467951 SIGLEC6 Nonsynonymous SNV R76Q 0.048 0.06 0.024 19 56 23 0.049 7 0 2 0 0 11.29 34308 chr19 5789565 5789565 T C rs2436487 DUS3L Nonsynonymous SNV R185G 0.218 0.227 0.276 88 256 87 0.226 81 26 11 10 10 2.855 34309 chr9 125391026 125391026 A C rs1476858 OR1B1 Nonsynonymous SNV C263W 0.733 0.732 0.701 290 861 281 0.744 206 323 102 69 107 16.26 34310 chr19 804612 804612 C T rs4986235 PTBP1 Synonymous SNV D172D 0.125 0.143 0.112 58 147 55 0.149 33 10 4 2 1 9.351 34311 chr9 14775859 14775859 G A rs10733289 FREM1 Synonymous SNV A131A 0.529 0.51 0.473 191 621 196 0.49 139 157 58 31 47 Benign 3.759 34312 chr9 14776140 14776140 C T rs10961700 FREM1 Nonsynonymous SNV V38M 0.095 0.107 0.092 33 112 41 0.085 27 4 3 2 1 Benign 19.13 34313 chr19 804642 804642 C T rs3170451 PTBP1 Synonymous SNV P182P 0.096 0.07 0.112 28 113 27 0.072 33 4 0 2 1 12.69 34314 chr9 125391127 125391127 C T rs1476859 OR1B1 Nonsynonymous SNV A230T 0.279 0.242 0.262 106 328 93 0.272 77 52 11 10 17 8.148 34315 chr19 52085095 52085095 G A rs35431178 ZNF175 Synonymous SNV P85P 0.137 0.13 0.126 65 161 50 0.167 37 11 6 1 6 5.311 34316 chr19 804959 804959 C T rs10422347 MIR4745 0.125 0.143 0.112 58 147 55 0.149 33 10 4 2 1 0.912 34317 chr19 5789584 5789584 G A rs45596237 DUS3L Synonymous SNV R178R 0.032 0.031 0.041 17 37 12 0.044 12 1 0 1 0 4.775 34318 chr19 55556574 55556574 G C rs56125820 RDH13 Nonsynonymous SNV F288L 0.02 0.016 0.003 9 23 6 0.023 1 1 1 0 0 22.2 34319 chr9 14801738 14801738 G C rs16932300 FREM1 Nonsynonymous SNV S1202R 0.108 0.128 0.143 45 127 49 0.115 42 5 5 2 2 Benign 0.005 34320 chr19 52090014 52090014 C T rs35625154 ZNF175 Nonsynonymous SNV R144C 0.137 0.13 0.129 65 161 50 0.167 38 11 6 1 6 19.87 34321 chr9 125391241 125391241 G A rs1476860 OR1B1 Stop gain R192X 0.279 0.247 0.259 108 327 95 0.277 76 51 11 9 17 28 34322 chr19 808586 808586 C G rs13169 PTBP1 Synonymous SNV P403P 0.097 0.07 0.105 28 114 27 0.072 31 4 0 1 1 6.478 34323 chr19 808742 808742 G T rs1135908 PTBP1 Synonymous SNV T455T 0.097 0.07 0.099 28 114 27 0.072 29 4 0 1 1 0.017 34324 chr9 125391369 125391369 A G rs1536929 OR1B1 Nonsynonymous SNV L149S 0.664 0.682 0.636 264 779 262 0.677 187 269 86 58 88 0.023 34325 chr9 14819370 14819370 G T rs7023244 FREM1 Nonsynonymous SNV S803Y 0.265 0.284 0.276 96 311 109 0.246 81 37 14 13 9 Benign 23.8 34326 chr19 810573 810573 C A rs11549883 PTBP1 Synonymous SNV V472V 0.014 0.016 0.02 4 17 6 0.01 6 1 0 0 0 9.445 34327 chr9 125391409 125391409 A G rs1536928 OR1B1 Synonymous SNV L136L 0.445 0.482 0.422 180 523 185 0.462 124 127 42 25 39 0.11 34328 chr9 14846036 14846036 C G rs2779500 FREM1 Nonsynonymous SNV V439L 0.595 0.602 0.551 228 699 231 0.585 162 206 74 48 59 Benign 9.487 34329 chr9 125391677 125391677 T C rs12347681 OR1B1 Synonymous SNV T46T 0.233 0.216 0.228 91 273 83 0.233 67 35 9 6 10 0.008 34330 chr9 15486870 15486870 A G rs2821529 PSIP1 Synonymous SNV S116S 0.054 0.057 0.051 27 63 22 0.069 15 0 0 1 2 3.676 34331 chr9 125391770 125391770 - A rs11421222 OR1B1 Frameshift insertion L15Ffs*9 0.445 0.482 0.422 180 522 185 0.462 124 127 42 25 39 34332 chr9 125424507 125424507 A C rs70156 OR1L1 Synonymous SNV S171S 0.152 0.154 0.173 69 179 59 0.177 51 18 2 9 6 0.01 34333 chr9 125486968 125486968 G A rs2215530 OR1L4 Nonsynonymous SNV G234R 0.956 0.948 0.952 367 1122 364 0.941 280 538 172 133 173 22.9 34334 chr19 812658 812658 G A rs3746136 PLPPR3 Nonsynonymous SNV A718V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.18 34335 chr1 85666156 85666156 T G rs12121540 SYDE2 Nonsynonymous SNV Q175P 0.198 0.24 0.224 69 232 92 0.177 66 28 16 10 10 0.001 34336 chr9 125512193 125512193 C A rs10760252 OR1L6 Nonsynonymous SNV Q23K 0.957 0.951 0.959 367 1124 365 0.941 282 540 173 135 173 10.37 34337 chr19 52004747 52004747 G T rs2034891 SIGLEC12 Nonsynonymous SNV P81T 0.035 0.034 0.027 17 41 13 0.044 8 1 1 0 0 11.71 34338 chr19 813220 813220 T C rs351994 PLPPR3 Nonsynonymous SNV T531A 0.193 0.185 0.235 79 226 71 0.203 69 22 6 10 8 0.002 34339 chr9 16436647 16436647 T C rs117470554 BNC2 Synonymous SNV S473S 0.049 0.055 0.061 15 57 21 0.038 18 0 0 0 0 not provided 0.008 34340 chr19 57649900 57649900 C T rs2370134 ZIM3 Nonsynonymous SNV E28K 0.2 0.185 0.184 93 235 71 0.238 54 23 9 6 11 11.21 34341 chr9 125512575 125512575 G A rs4838012 OR1L6 Nonsynonymous SNV C150Y 0.957 0.951 0.959 367 1124 365 0.941 282 540 173 135 173 24.6 34342 chr1 85724328 85724328 C T rs4949926 C1orf52 Synonymous SNV P118P 0.143 0.167 0.15 43 168 64 0.11 44 16 9 1 3 11.39 34343 chr9 125512770 125512770 T C rs10985760 OR1L6 Nonsynonymous SNV I215T 0.951 0.948 0.898 366 1116 364 0.938 264 538 173 127 173 18.1 34344 chr1 86173943 86173943 C T rs17399721 ZNHIT6 Nonsynonymous SNV G9R 0.129 0.115 0.146 34 152 44 0.087 43 14 2 2 3 23.2 34345 chr19 52033206 52033206 G A rs2005199 SIGLEC6 Nonsynonymous SNV L210F 0.089 0.057 0.071 31 105 22 0.079 21 6 0 2 2 19.93 34346 chr19 55697236 55697236 G A rs61735060 PTPRH Synonymous SNV L787L 0.124 0.112 0.092 34 145 43 0.087 27 13 3 0 0 2.155 34347 chr9 125512788 125512788 G A rs10818740 OR1L6 Nonsynonymous SNV R221Q 0.956 0.951 0.922 366 1122 365 0.938 271 538 173 130 172 8.968 34348 chr19 814680 814680 G T rs56944467 PLPPR3 Synonymous SNV A223A 0.083 0.063 0.102 27 97 24 0.069 30 3 0 2 1 4.388 34349 chr1 86210482 86210482 G A rs141100436 COL24A1 Synonymous SNV H813H 0.009 0.005 0.01 0 11 2 0 3 0 0 0 0 6.898 34350 chr9 125512795 125512795 G C rs10818741 OR1L6 Nonsynonymous SNV M223I 0.955 0.951 0.929 366 1121 365 0.938 273 538 173 131 172 0.002 34351 chr19 8154990 8154990 C T rs35002391 FBN3 Synonymous SNV E2059E 0.384 0.391 0.316 152 451 150 0.39 93 86 28 19 36 5.895 34352 chr19 55702910 55702910 C A rs2288523 PTPRH Nonsynonymous SNV K603N 0.185 0.161 0.16 68 217 62 0.174 47 21 7 2 4 2.079 34353 chr19 8168545 8168545 C T rs33967815 FBN3 Nonsynonymous SNV G1614S 0.378 0.323 0.32 150 444 124 0.385 94 74 19 20 35 25.8 34354 chr9 125512826 125512826 G A rs28670025 OR1L6 Nonsynonymous SNV G234R 0.957 0.951 0.959 367 1123 365 0.941 282 539 173 135 173 26.7 34355 chr9 18775810 18775810 C A rs934472 ADAMTSL1 Nonsynonymous SNV L823I 0.449 0.445 0.439 194 527 171 0.497 129 105 36 24 52 1.213 34356 chr9 125637471 125637471 A T rs2596699 RC3H2 Nonsynonymous SNV V501E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.845 34357 chr19 52658510 52658510 T C rs8113504 ZNF836 Nonsynonymous SNV N809S 0.09 0.096 0.088 26 106 37 0.067 26 5 2 2 0 11.26 34358 chr9 125637648 125637648 T C rs2596698 RC3H2 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.578 34359 chr19 8196643 8196643 G A rs61744943 FBN3 Synonymous SNV R595R 0.074 0.06 0.095 29 87 23 0.074 28 4 0 1 0 4.467 34360 chr9 18776784 18776784 G A rs2060362 ADAMTSL1 Nonsynonymous SNV G853R 0.057 0.063 0.075 23 67 24 0.059 22 2 2 2 3 13.55 34361 chr19 8197983 8197983 G A rs35202360 FBN3 Synonymous SNV N533N 0.049 0.042 0.058 20 58 16 0.051 17 4 0 0 0 8.921 34362 chr9 125920376 125920376 G A rs803736 STRBP Synonymous SNV G306G 0.904 0.888 0.871 338 1061 341 0.867 256 480 150 112 147 12.22 34363 chr19 55742784 55742784 G A rs148513439 PPP6R1 Nonsynonymous SNV S818L 0.014 0.005 0 4 16 2 0.01 0 1 0 0 0 16.83 34364 chr9 18776819 18776819 G A rs2060363 ADAMTSL1 Synonymous SNV A864A 0.058 0.063 0.075 23 68 24 0.059 22 2 2 2 3 9.358 34365 chr19 58084930 58084930 G A rs3746222 ZNF416 Synonymous SNV T42T 0.236 0.279 0.211 99 277 107 0.254 62 36 15 5 13 5.48 34366 chr9 126125318 126125318 C A rs2808415 CRB2 Nonsynonymous SNV T90N 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 34367 chr9 126128211 126128211 T C rs1105223 CRB2 Nonsynonymous SNV M145T 0.337 0.344 0.388 145 396 132 0.372 114 66 22 25 27 0.002 34368 chr19 49337577 49337577 C T rs116979565 HSD17B14 Nonsynonymous SNV A56T 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 9.522 34369 chr9 18829952 18829952 A G rs41304755 ADAMTSL1 Nonsynonymous SNV D1409G 0.19 0.203 0.231 93 223 78 0.238 68 20 9 7 8 19.61 34370 chr19 831816 831816 T - rs372854624 AZU1 V232Gfs*67 0.021 0.042 0.007 13 25 16 0.033 2 0 0 0 0 34371 chr19 58213969 58213969 T G rs11878316 ZNF154 Synonymous SNV S116S 0.075 0.091 0.071 41 88 35 0.105 21 4 0 0 3 4.223 34372 chr19 8321946 8321946 T C rs36247 CERS4 Synonymous SNV S242S 0.349 0.336 0.303 116 410 129 0.297 89 80 19 13 17 0.544 34373 chr19 58214147 58214147 T C rs34282745 ZNF154 Nonsynonymous SNV H57R 0.015 0.021 0.017 3 18 8 0.008 5 0 0 0 0 0.264 34374 chr9 126128253 126128253 G C rs1105222 CRB2 Nonsynonymous SNV G159A 0.326 0.344 0.381 146 383 132 0.374 112 60 19 24 27 12.16 34375 chr9 18906747 18906747 C T rs147953826 ADAMTSL1 Synonymous SNV S1673S 0.012 0.018 0.017 7 14 7 0.018 5 0 0 0 0 Benign 14.97 34376 chr9 126129904 126129904 C T rs10818812 CRB2 Synonymous SNV N331N 0.319 0.344 0.374 141 375 132 0.362 110 55 19 25 26 16.09 34377 chr19 58355699 58355699 T C rs8103104 ZNF587B Nonsynonymous SNV C400R 0.446 0.37 0.333 175 524 142 0.449 98 122 24 23 39 0.001 34378 chr19 8389520 8389520 C T rs1019757 KANK3 Synonymous SNV L759L 0.112 0.109 0.119 46 131 42 0.118 35 5 5 1 0 6.202 34379 chr9 126132919 126132919 G A rs33984675 CRB2 Synonymous SNV A529A 0.323 0.341 0.31 118 379 131 0.303 91 62 24 14 15 10.8 34380 chr19 8398975 8398975 C T rs2913955 KANK3 Nonsynonymous SNV A485T 0.114 0.112 0.109 48 134 43 0.123 32 6 5 1 0 25.4 34381 chr19 57863052 57863052 T C rs117111481 ZNF304 Nonsynonymous SNV M7T 0.009 0.008 0.014 8 11 3 0.021 4 0 0 0 0 3.87 34382 chr9 126133497 126133497 C T rs13290763 CRB2 Synonymous SNV S692S 0.324 0.341 0.306 117 380 131 0.3 90 62 24 14 14 9.247 34383 chr19 58491627 58491627 T C rs11673029 ZNF606 Nonsynonymous SNV S51G 0.147 0.141 0.133 48 172 54 0.123 39 15 5 2 4 4.953 34384 chr9 126133547 126133547 T C rs2488602 CRB2 Nonsynonymous SNV V709A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 34385 chr19 8399709 8399709 C A rs890852 KANK3 Synonymous SNV V334V 0.11 0.104 0.041 43 129 40 0.11 12 6 5 0 0 8.421 34386 chr9 126134542 126134542 G A rs61740213 CRB2 Synonymous SNV T841T 0.493 0.557 0.537 204 579 214 0.523 158 143 56 42 52 14.4 34387 chr19 8399799 8399799 G A rs890851 KANK3 Synonymous SNV A304A 0.114 0.112 0.041 48 134 43 0.123 12 6 5 0 0 6.021 34388 chr9 126135715 126135715 A G rs2488601 CRB2 Nonsynonymous SNV T969A 1 0.995 0.905 387 1174 382 0.992 266 587 191 132 193 0.002 34389 chr19 55697279 55697279 C T rs61734259 PTPRH Nonsynonymous SNV G773D 0.121 0.148 0.119 47 142 57 0.121 35 10 1 2 4 18 34390 chr19 8399849 8399849 C A rs890850 KANK3 Nonsynonymous SNV D288Y 0.114 0.109 0.037 49 134 42 0.126 11 6 5 0 0 21.5 34391 chr1 87036946 87036946 C T rs2231595 CLCA4-AS1 0.18 0.169 0.15 69 211 65 0.177 44 16 3 2 3 5.509 34392 chr9 126144746 126144746 T C rs2491348 DENND1A Synonymous SNV G676G 0.999 0.997 0.997 389 1173 383 0.997 293 586 191 146 194 0.004 34393 chr19 55697889 55697889 G A rs1136578 PTPRH Synonymous SNV P684P 0.118 0.146 0.116 46 138 56 0.118 34 10 1 2 4 10.23 34394 chr19 8438716 8438716 G A rs11672433 ANGPTL4 Synonymous SNV P351P 0.171 0.201 0.143 67 201 77 0.172 42 15 5 1 6 8.522 34395 chr19 5866724 5866724 G A rs4807054 FUT5 Nonsynonymous SNV T338M 0.28 0.221 0.316 141 329 85 0.362 93 61 10 17 26 Benign 13.66 34396 chr1 87101375 87101375 C G rs2292830 CLCA3P 0 0 0.412 0 0 0 0 121 0 0 21 0 10.82 34397 chr9 126144758 126144758 T C rs2808409 DENND1A Synonymous SNV S672S 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.009 34398 chr1 87101649 87101649 T C rs2292829 CLCA3P 0 0 0.133 0 0 0 0 39 0 0 1 0 11.8 34399 chr9 126783433 126783433 G C rs1042486 LHX2 Synonymous SNV P261P 0.379 0.352 0.405 126 445 135 0.323 119 91 26 25 20 12.64 34400 chr1 87599697 87599697 G A rs6576865 LINC01140 0 0 0.779 0 0 0 0 229 0 0 88 0 7.366 34401 chr9 127101924 127101924 C T rs10760354 NEK6 Synonymous SNV L251L 0.982 0.977 0.98 386 1153 375 0.99 288 566 183 141 191 15.86 34402 chr19 8551112 8551112 G T rs12977861 HNRNPM Synonymous SNV L465L 0.076 0.057 0.051 27 89 22 0.069 15 2 3 0 3 3.97 34403 chr19 52620269 52620269 G A rs35582075 ZNF616 Nonsynonymous SNV P50S 0.058 0.06 0.048 39 68 23 0.1 14 1 0 0 1 0.538 34404 chr9 127177161 127177161 A G rs4574 PSMB7 Nonsynonymous SNV V39A 0.292 0.292 0.361 129 343 112 0.331 106 44 15 11 22 17.12 34405 chr9 21077716 21077716 G A rs1051922 IFNB1 Synonymous SNV Y51Y 0.324 0.307 0.378 121 380 118 0.31 111 54 18 17 18 0.012 34406 chr9 22447655 22447655 T A rs558612 DMRTA1 Synonymous SNV G197G 0.185 0.201 0.197 100 217 77 0.256 58 23 9 7 10 7.732 34407 chr9 127566378 127566378 A G rs7874348 OLFML2A Nonsynonymous SNV T95A 0.695 0.714 0.667 286 816 274 0.733 196 286 98 65 106 0.009 34408 chr19 8578035 8578035 T C rs8100431 ZNF414 Nonsynonymous SNV Q65R 0.336 0.305 0.269 131 395 117 0.336 79 71 24 10 23 22.7 34409 chr9 127616537 127616537 A G rs12375547 WDR38 Nonsynonymous SNV K10R 0.461 0.51 0.435 215 541 196 0.551 128 126 47 24 61 7.914 34410 chr1 89271574 89271574 T C rs786906 PKN2 Synonymous SNV S511S 0.614 0.549 0.605 225 721 211 0.577 178 230 63 47 67 7.692 34411 chr19 55752662 55752662 T C rs200841391 PPP6R1 Nonsynonymous SNV N369S 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 12.99 34412 chr9 127618776 127618776 A G rs2274970 WDR38 Nonsynonymous SNV H123R 0.988 0.995 0.986 385 1160 382 0.987 290 574 190 143 190 0.006 34413 chr1 89479063 89479063 G A rs4656077 GBP3 Nonsynonymous SNV R91W 0.405 0.435 0.398 159 476 167 0.408 117 93 36 22 32 33 34414 chr19 52793328 52793328 G A rs12462608 ZNF766 Nonsynonymous SNV C95Y 0.02 0.023 0.024 20 24 9 0.051 7 0 0 0 0 0.001 34415 chr9 127618839 127618839 C G rs10760381 WDR38 Nonsynonymous SNV A144G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 15.37 34416 chr19 52888074 52888074 - ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC ZNF880 Stop gain K415Sfs*2 0.023 0.026 0.007 11 27 10 0.028 2 0 0 0 0 34417 chr1 89479074 89479074 C T rs4656078 GBP3 Nonsynonymous SNV R87Q 0.405 0.435 0.398 159 476 167 0.408 117 93 36 22 32 27.6 34418 chr19 49416342 49416342 C T rs147930306 NUCB1 Synonymous SNV H185H 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 11.93 34419 chr19 52793332 52793332 A G rs12462567 ZNF766 Synonymous SNV A96A 0.018 0.023 0.024 19 21 9 0.049 7 0 0 0 0 0.183 34420 chr19 58117083 58117083 A G rs9677004 ZNF530 Nonsynonymous SNV T64A 0.207 0.208 0.204 94 243 80 0.241 60 21 7 8 8 0.001 34421 chr9 127643456 127643456 T C rs687434 GOLGA1 Synonymous SNV E739E 0.422 0.479 0.401 199 495 184 0.51 118 107 42 22 51 8.006 34422 chr9 27202870 27202870 A G rs639225 TEK Synonymous SNV S507S 0.379 0.404 0.357 134 445 155 0.344 105 88 35 18 21 Benign 3.539 34423 chr19 49438363 49438363 G A rs2270941 DHDH Nonsynonymous SNV S66N 0.186 0.161 0.211 93 218 62 0.238 62 24 3 11 8 13.76 34424 chr1 89579941 89579941 T C rs2230338 GBP2 Nonsynonymous SNV S303G 0.622 0.607 0.643 236 730 233 0.605 189 225 73 60 68 20.3 34425 chr9 127661645 127661645 G A rs634710 GOLGA1 Nonsynonymous SNV T425M 0.455 0.497 0.422 216 534 191 0.554 124 125 45 22 61 9.962 34426 chr9 27205021 27205021 G A rs542913 TEK Synonymous SNV R627R 0.199 0.19 0.167 64 234 73 0.164 49 23 13 5 6 Benign 11.66 34427 chr19 5286119 5286119 A T rs61749998 PTPRS Synonymous SNV S11S 0.025 0.018 0.02 6 29 7 0.015 6 0 0 0 0 Benign 0.002 34428 chr1 89582690 89582690 G C rs1803632 GBP2 Nonsynonymous SNV P285A 0.622 0.607 0.643 236 730 233 0.605 189 225 73 60 68 0.001 34429 chr19 49442849 49442849 - G rs3830420 DHDH Frameshift insertion A173Gfs*33 0.097 0.083 0.126 40 114 32 0.103 37 10 0 7 0 34430 chr9 27296705 27296705 A G rs3824406 EQTN Synonymous SNV D36D 0.277 0.242 0.201 113 325 93 0.29 59 48 10 9 19 0.016 34431 chr19 871987 871987 G A rs78047294 MED16 Synonymous SNV T679T 0.281 0.279 0.252 84 330 107 0.215 74 48 16 7 6 11.08 34432 chr9 127674200 127674200 A C rs583134 GOLGA1 Nonsynonymous SNV L317V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.001 34433 chr19 58117399 58117399 C T rs11883343 ZNF530 Nonsynonymous SNV T169M 0.056 0.039 0.068 33 66 15 0.085 20 1 0 2 3 0.224 34434 chr19 49442933 49442933 T C rs2270939 DHDH Synonymous SNV S198S 0.141 0.109 0.156 57 166 42 0.146 46 15 1 7 2 0.006 34435 chr19 49445817 49445817 T C rs11666105 DHDH Nonsynonymous SNV V247A 0.141 0.109 0.156 57 166 42 0.146 46 15 1 7 2 7.969 34436 chr9 128074807 128074807 T C rs432757 GAPVD1 Synonymous SNV I506I 0.975 0.982 0.969 378 1145 377 0.969 285 559 185 138 183 7.861 34437 chr19 58131623 58131623 G A rs10413455 ZNF134 Nonsynonymous SNV A46T 0.056 0.042 0.068 33 66 16 0.085 20 1 0 2 3 0.007 34438 chr9 33264381 33264381 C T BAG1 Nonsynonymous SNV A27T 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 9.485 34439 chr9 128246786 128246786 G A rs2070113 MAPKAP1 Synonymous SNV H189H 0.22 0.25 0.221 107 258 96 0.274 65 32 11 5 21 9.529 34440 chr19 55870478 55870478 C T rs79366553 FAM71E2 Synonymous SNV P586P 0.093 0.057 0.136 37 109 22 0.095 40 2 0 1 5 9.124 34441 chr19 58144715 58144715 A G rs9749449 ZNF211 Star tloss M1? 0.181 0.182 0.177 86 213 70 0.221 52 16 5 6 5 0.001 34442 chr9 128434832 128434832 T C rs148740501 MAPKAP1 Nonsynonymous SNV T8A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.559 34443 chr19 56042540 56042540 G A rs45520537 SBK2 Synonymous SNV H142H 0.087 0.057 0.054 37 102 22 0.095 16 3 1 1 0 9.558 34444 chr19 58151286 58151286 T C rs4801508 ZNF211 Nonsynonymous SNV I75T 0.187 0.19 0.18 89 219 73 0.228 53 16 5 6 5 0.002 34445 chr9 129102840 129102840 G A rs1888156 MVB12B Synonymous SNV T45T 0.187 0.185 0.259 79 219 71 0.203 76 29 7 13 12 15.75 34446 chr9 33442952 33442952 G A rs2228332 AQP3 Synonymous SNV F130F 0.529 0.576 0.537 215 621 221 0.551 158 163 68 42 57 3.187 34447 chr19 55870835 55870835 A C rs113307911 FAM71E2 Synonymous SNV A467A 0.089 0.055 0.133 35 104 21 0.09 39 2 0 1 5 0.522 34448 chr9 129595895 129595895 T C rs3118994 ZBTB43 Synonymous SNV T369T 0.803 0.792 0.813 298 943 304 0.764 239 386 120 97 115 0.033 34449 chr9 129752239 129752239 C T rs10819260 RALGPS1 Nonsynonymous SNV T95M 0.173 0.146 0.197 69 203 56 0.177 58 15 1 4 4 15.95 34450 chr9 33466142 33466142 C T rs111688613 NOL6 Nonsynonymous SNV R764H 0.016 0.018 0.007 8 19 7 0.021 2 0 0 0 0 35 34451 chr19 58152361 58152361 T A rs3746219 ZNF211 Synonymous SNV T108T 0.187 0.19 0.18 88 219 73 0.226 53 16 5 6 5 5.682 34452 chr1 9009406 9009406 C T rs2274327 CA6 Nonsynonymous SNV T55M 0.435 0.414 0.459 169 511 159 0.433 135 115 37 30 31 22.3 34453 chr9 129854199 129854199 G A rs2297866 ANGPTL2 Synonymous SNV D344D 0.405 0.388 0.374 171 475 149 0.438 110 82 31 20 36 8.825 34454 chr19 58928786 58928786 A G rs7257872 ZNF584 Nonsynonymous SNV T256A 0.237 0.245 0.231 90 278 94 0.231 68 32 6 7 5 8.546 34455 chr19 58152795 58152795 C T rs11879465 ZNF211 Nonsynonymous SNV A253V 0.187 0.19 0.18 88 219 73 0.226 53 16 5 6 5 5.783 34456 chr9 33466219 33466219 A C rs3739681 NOL6 Synonymous SNV V738V 0.132 0.115 0.126 54 155 44 0.138 37 18 0 3 4 0.15 34457 chr9 130164993 130164993 C T rs1138739 SLC2A8 Synonymous SNV S65S 0.182 0.182 0.156 67 214 70 0.172 46 18 8 5 6 17.1 34458 chr19 58152817 58152817 G C rs11880050 ZNF211 Synonymous SNV S260S 0.187 0.19 0.18 88 219 73 0.226 53 16 5 6 5 11.27 34459 chr9 130165995 130165995 C T rs1138740 SLC2A8 Synonymous SNV G97G 0.181 0.182 0.197 67 212 70 0.172 58 17 8 5 6 15.7 34460 chr19 58153000 58153000 T C rs3746218 ZNF211 Synonymous SNV F321F 0.187 0.19 0.18 89 219 73 0.228 53 16 5 6 5 11.02 34461 chr9 33941759 33941759 T C rs307658 UBAP2 Nonsynonymous SNV N553S 0.324 0.315 0.32 109 380 121 0.279 94 50 24 16 18 1.476 34462 chr19 8997415 8997415 G A rs796982770 MUC16 Synonymous SNV G13669G 0.252 0.25 0.037 100 296 96 0.256 11 0 0 0 0 5.146 34463 chr9 130191186 130191186 C T rs13292096 ZNF79 Nonsynonymous SNV T7I 0.606 0.654 0.633 227 712 251 0.582 186 219 86 60 66 16.34 34464 chr19 52888074 52888074 - ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA ZNF880 Stop gain K415_R577delinsS 0.016 0.016 0.007 7 19 6 0.018 2 0 0 0 0 34465 chr19 8997421 8997421 A C rs796124584 MUC16 Synonymous SNV L13667L 0.254 0.258 0.044 97 298 99 0.249 13 0 0 0 0 0.004 34466 chr19 58153009 58153009 C T rs3746217 ZNF211 Synonymous SNV I324I 0.187 0.19 0.18 89 219 73 0.228 53 16 5 6 5 17.54 34467 chr9 130197414 130197414 A G rs4504745 ZNF79 Nonsynonymous SNV R27G 0.61 0.654 0.639 227 716 251 0.582 188 219 86 60 66 8.853 34468 chr19 8997424 8997424 G A rs767470256 MUC16 Synonymous SNV V13666V 0.249 0.253 0.037 97 292 97 0.249 11 0 0 0 0 5.968 34469 chr19 58189287 58189287 C T rs9676604 ZSCAN4 Synonymous SNV H134H 0.168 0.151 0.16 86 197 58 0.221 47 17 1 6 5 10.8 34470 chr19 56223314 56223314 G A rs148511077 NLRP9 Nonsynonymous SNV R899C 0.005 0.008 0.01 6 6 3 0.015 3 0 0 0 0 Benign 1.948 34471 chr19 8997454 8997454 G A rs76629162 MUC16 Synonymous SNV G13656G 0.19 0.188 0.017 73 223 72 0.187 5 0 0 0 0 3.195 34472 chr19 58213952 58213952 C A rs2074078 ZNF154 Nonsynonymous SNV G122V 0.156 0.122 0.153 62 183 47 0.159 45 12 4 4 5 0.312 34473 chr9 130206669 130206669 C T rs2298182 ZNF79 Synonymous SNV F96F 0.115 0.128 0.116 47 135 49 0.121 34 9 6 1 2 13.76 34474 chr19 8997463 8997463 C T rs73001893 MUC16 Synonymous SNV Q13653Q 0.174 0.169 0.014 59 204 65 0.151 4 0 0 0 0 4.033 34475 chr9 130219669 130219669 C T rs2243906 LRSAM1 Synonymous SNV I83I 0.605 0.654 0.636 224 710 251 0.574 187 214 86 59 65 Benign 15.99 34476 chr19 8997472 8997472 C T rs113387108 MUC16 Synonymous SNV E13650E 0.147 0.141 0.01 56 172 54 0.144 3 0 0 0 0 8.403 34477 chr9 34893046 34893046 C - rs151257262 FAM205C A119Qfs*9 0.221 0.245 0.211 96 260 94 0.246 62 30 8 6 17 34478 chr9 130242166 130242166 A G rs1539567 LRSAM1 Nonsynonymous SNV N318D 0.735 0.75 0.745 287 863 288 0.736 219 327 110 82 106 Benign 10.98 34479 chr9 34893047 34893047 C G rs115567907 FAM205C Synonymous SNV L118L 0.221 0.245 0.211 96 260 94 0.246 62 30 8 6 17 8.411 34480 chr19 8997481 8997481 C A rs796886054 MUC16 Synonymous SNV R13647R 0.112 0.128 0.003 44 132 49 0.113 1 0 0 0 0 11.95 34481 chr19 58379892 58379892 A G rs2081884 UBE2CP5 0.445 0.372 0.065 166 522 143 0.426 19 124 26 9 36 4.423 34482 chr9 35043075 35043075 T G rs367894076 C9orf131 Nonsynonymous SNV I115R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.012 34483 chr19 8997482 8997482 C T rs553112849 MUC16 Nonsynonymous SNV R13647Q 0.108 0.125 0.003 45 127 48 0.115 1 0 0 0 0 0.333 34484 chr19 58379986 58379986 C T rs10406133 UBE2CP5 0.229 0.198 0 71 269 76 0.182 0 65 15 0 17 6.774 34485 chr9 130475011 130475011 T C rs522328 CFAP157 Synonymous SNV S387S 0.609 0.607 0.612 212 715 233 0.544 180 212 66 55 60 0.118 34486 chr19 58989495 58989495 A C rs893185 ZNF446 Nonsynonymous SNV N192H 0.486 0.464 0.456 192 570 178 0.492 134 133 38 32 49 0.012 34487 chr19 58439306 58439306 G A rs7253514 ZNF418 Synonymous SNV A81A 0.256 0.227 0.238 85 300 87 0.218 70 41 6 5 12 0.806 34488 chr19 8997499 8997499 G A rs774409792 MUC16 Synonymous SNV F13641F 0.064 0.073 0.003 28 75 28 0.072 1 0 0 0 0 9.309 34489 chr9 130475442 130475442 A C rs497632 CFAP157 Nonsynonymous SNV Y483S 0.602 0.583 0.592 206 707 224 0.528 174 205 63 53 57 1.378 34490 chr19 58991900 58991900 G A rs882610 ZNF446 Nonsynonymous SNV R387H 0.241 0.247 0.245 95 283 95 0.244 72 33 5 7 8 7.689 34491 chr19 8999429 8999429 G T rs563734214 MUC16 Synonymous SNV G13582G 0.482 0.487 0.095 191 566 187 0.49 28 0 0 0 0 0.091 34492 chr19 58490929 58490929 T C rs75971696 ZNF606 Synonymous SNV K283K 0.138 0.112 0.109 68 162 43 0.174 32 15 2 3 2 0.033 34493 chr9 130489558 130489558 A G rs472144 TTC16 Synonymous SNV K513K 0.611 0.612 0.622 212 717 235 0.544 183 215 69 56 61 0.261 34494 chr19 8999438 8999438 A T rs77891947 MUC16 Synonymous SNV T13579T 0.474 0.471 0.463 184 557 181 0.472 136 0 0 0 0 0.002 34495 chr19 58549354 58549354 C T rs113374422 ZSCAN1 Synonymous SNV S50S 0.055 0.047 0.061 27 65 18 0.069 18 1 1 0 0 12.76 34496 chr9 130489743 130489743 A G rs13298768 TTC16 Nonsynonymous SNV E575G 0.516 0.497 0.51 179 606 191 0.459 150 163 51 39 43 17.77 34497 chr19 59080718 59080718 C T MZF1 Nonsynonymous SNV G233E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.016 34498 chr19 8999441 8999441 G A rs80293661 MUC16 Synonymous SNV I13578I 0.457 0.458 0.388 169 537 176 0.433 114 0 0 0 0 7.023 34499 chr19 58572959 58572959 G A rs2288274 ZNF135 Synonymous SNV T27T 0.272 0.273 0.282 112 319 105 0.287 83 37 14 11 17 13.19 34500 chr9 130493513 130493513 A G rs482095 TTC16 Synonymous SNV K804K 0.611 0.612 0.626 213 717 235 0.546 184 215 69 56 61 0.016 34501 chr19 8999443 8999443 T C rs774801267 MUC16 Nonsynonymous SNV I13578V 0.457 0.451 0.378 166 536 173 0.426 111 0 0 0 0 5.719 34502 chr9 130494957 130494957 T C rs538066 TOR2A Nonsynonymous SNV K41E 0.98 0.982 0.983 383 1151 377 0.982 289 564 185 142 188 16.21 34503 chr19 607984 607984 G C rs3752158 HCN2 Synonymous SNV L413L 0.084 0.091 0.105 38 99 35 0.097 31 3 0 1 3 5.777 34504 chr19 8999449 8999449 G T rs76798407 MUC16 Nonsynonymous SNV H13576N 0.474 0.474 0.439 184 557 182 0.472 129 0 0 0 0 16.3 34505 chr9 130495633 130495633 C G rs564754 TOR2A Nonsynonymous SNV W208C 0.627 0.615 0.636 222 736 236 0.569 187 226 71 58 64 3.41 34506 chr19 58596449 58596449 C T rs2258557 ZSCAN18 Nonsynonymous SNV G243E 0.162 0.112 0.136 58 190 43 0.149 40 16 5 1 3 0.075 34507 chr9 130504070 130504070 G A rs514024 SH2D3C Synonymous SNV A537A 0.618 0.602 0.629 212 726 231 0.544 185 208 70 56 61 10.8 34508 chr19 8999478 8999478 T C rs73493659 MUC16 Nonsynonymous SNV Q13566R 0.474 0.466 0.408 187 557 179 0.479 120 0 0 0 0 0.087 34509 chr9 130536484 130536484 C T rs55932444 SH2D3C Synonymous SNV A100A 0.056 0.057 0.048 21 66 22 0.054 14 0 2 0 0 14.03 34510 chr1 91784887 91784887 G A rs10493845 HFM1 Synonymous SNV T881T 0.292 0.255 0.238 104 343 98 0.267 70 45 12 8 20 7.491 34511 chr9 130536717 130536717 G A rs10760500 SH2D3C Nonsynonymous SNV L23F 0.491 0.531 0.551 214 576 204 0.549 162 125 60 44 56 24.1 34512 chr19 8999498 8999501 GCTT - rs746055260 MUC16 K13558Nfs*13 0.037 0.049 0.007 26 44 19 0.067 2 0 0 0 0 34513 chr19 621712 621712 A G rs2238547 POLRMT Synonymous SNV A662A 0.578 0.591 0.524 238 678 227 0.61 154 194 73 50 73 0.035 34514 chr19 8999499 8999502 CTTT - rs749870095 MUC16 K13558Tfs*13 0.498 0.492 0.31 192 585 189 0.492 91 0 0 0 0 34515 chr19 8999502 8999502 - CCGA rs769228524 MUC16 Frameshift insertion K13558Ifs*24 0.425 0.419 0.003 164 499 161 0.421 1 0 0 0 0 34516 chr19 8999511 8999511 G A rs79907258 MUC16 Nonsynonymous SNV P13555L 0.49 0.482 0.401 189 575 185 0.485 118 0 0 0 0 13.15 34517 chr9 130578404 130578404 A G rs10760503 LOC102723566 0.435 0.469 0.442 186 511 180 0.477 130 104 44 27 45 Benign 0.66 34518 chr19 5866816 5866816 G A rs28541500 FUT5 Synonymous SNV D307D 0.065 0.047 0.017 34 76 18 0.087 5 0 0 0 0 10.2 34519 chr9 130579599 130579599 C T rs1330684 LOC102723566 0.338 0.346 0.374 142 397 133 0.364 110 59 29 21 33 Benign 6.345 34520 chr1 91859801 91859801 A G rs11165778 HFM1 Nonsynonymous SNV S115P 0.225 0.198 0.177 73 264 76 0.187 52 30 9 5 10 0.256 34521 chr19 50170370 50170370 C T rs149021967 BCL2L12 Nonsynonymous SNV P151S 0.006 0.01 0.01 2 7 4 0.005 3 1 0 0 0 15.88 34522 chr9 130630639 130630639 A G rs913986 AK1 Synonymous SNV P175P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 13.82 34523 chr19 8999512 8999512 G C rs753958979 MUC16 Nonsynonymous SNV P13555A 0.33 0.328 0 151 388 126 0.387 0 0 0 0 0 8.386 34524 chr9 130690412 130690412 G C rs10760515 PIP5KL1 Synonymous SNV A122A 0.812 0.807 0.854 314 953 310 0.805 251 420 135 108 132 5.963 34525 chr19 8999517 8999517 T A rs780415518 MUC16 Nonsynonymous SNV Y13553F 0.479 0.458 0.282 181 562 176 0.464 83 0 0 0 0 13.28 34526 chr9 130698029 130698029 G C rs7997 DPM2 Nonsynonymous SNV T76S 0.816 0.815 0.82 303 958 313 0.777 241 390 126 99 120 Benign 0.133 34527 chr19 58772649 58772649 T C rs531011669 ZNF544 Nonsynonymous SNV I198T 0.005 0 0 8 6 0 0.021 0 0 0 0 0 0.002 34528 chr19 6375831 6375831 G A rs2304198 PSPN Synonymous SNV S10S 0.144 0.138 0.129 48 169 53 0.123 38 14 4 5 2 3.401 34529 chr19 8999518 8999518 A G rs77650227 MUC16 Nonsynonymous SNV Y13553H 0.493 0.484 0.401 192 579 186 0.492 118 0 0 0 0 2.892 34530 chr19 6381828 6381828 G A rs201517329 GTF2F1 Nonsynonymous SNV P239L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.57 34531 chr9 35906471 35906471 C T rs76452347 HRCT1 Nonsynonymous SNV R63W 0.223 0.255 0.16 85 262 98 0.218 47 23 15 11 11 25.6 34532 chr9 130698043 130698043 A G rs6781 DPM2 Synonymous SNV Y71Y 0.816 0.815 0.82 303 958 313 0.777 241 390 126 99 120 Benign 0.378 34533 chr1 92445257 92445257 C G rs3088232 BRDT Nonsynonymous SNV N364K 0.225 0.193 0.194 84 264 74 0.215 57 28 9 7 10 13.01 34534 chr19 8999522 8999522 G A rs776210869 MUC16 Synonymous SNV C13551C 0.292 0.279 0.003 132 343 107 0.338 1 0 0 0 0 3.214 34535 chr9 130707081 130707081 A G rs2274426 FAM102A Synonymous SNV D196D 0.819 0.82 0.823 303 962 315 0.777 242 393 126 100 120 4.921 34536 chr19 6458240 6458240 G C rs2289784 SLC25A23 Synonymous SNV L84L 0.078 0.099 0.082 32 91 38 0.082 24 3 1 2 1 12.16 34537 chr9 130829039 130829039 A G rs1539350 NAIF1 Synonymous SNV G114G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.246 34538 chr19 8999530 8999530 C T rs763019501 MUC16 Nonsynonymous SNV A13549T 0.384 0.357 0 146 451 137 0.374 0 0 0 0 0 19.38 34539 chr9 36148636 36148636 A G rs771407106 GLIPR2 Nonsynonymous SNV Y72C 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 25.3 34540 chr9 130860866 130860866 T C rs947624 SLC25A25 Synonymous SNV Y7Y 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 14.69 34541 chr19 8999531 8999531 A G rs766227927 MUC16 Synonymous SNV D13548D 0.496 0.49 0.388 193 582 188 0.495 114 0 0 0 0 0.435 34542 chr9 130864676 130864676 T C rs7859709 SLC25A25 Synonymous SNV I168I 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 8.288 34543 chr9 36170290 36170290 G A rs113985677 CCIN Nonsynonymous SNV R264Q 0.055 0.057 0.058 13 65 22 0.033 17 1 2 0 0 13.82 34544 chr19 8999538 8999538 T C rs78334969 MUC16 Nonsynonymous SNV K13546R 0.492 0.49 0.367 193 578 188 0.495 108 0 0 0 0 8.022 34545 chr19 58850341 58850341 G C rs59054150 ZSCAN22 Synonymous SNV T375T 0.067 0.052 0.061 30 79 20 0.077 18 1 1 0 1 2.612 34546 chr9 130883511 130883511 C T rs2040004 PTGES2 Synonymous SNV A349A 0.997 0.995 0.993 387 1171 382 0.992 292 584 190 145 192 13.98 34547 chr19 53612720 53612720 T C rs1560099 ZNF415 Nonsynonymous SNV Y193C 0.173 0.182 0.187 67 203 70 0.172 55 23 10 8 8 0.023 34548 chr9 130884753 130884753 C T rs13283456 PTGES2 Nonsynonymous SNV R298H 0.175 0.198 0.16 69 205 76 0.177 47 16 10 5 9 15.39 34549 chr19 8999539 8999539 T C rs76810971 MUC16 Nonsynonymous SNV K13546E 0.494 0.49 0.371 193 580 188 0.495 109 0 0 0 0 5.177 34550 chr19 651852 651852 C T rs2285751 RNF126 Nonsynonymous SNV V68M 0.017 0.008 0.007 7 20 3 0.018 2 0 0 0 0 20.6 34551 chr19 8999540 8999540 G A rs75422108 MUC16 Synonymous SNV T13545T 0.488 0.487 0.367 193 573 187 0.495 108 0 0 0 0 0.493 34552 chr9 130928633 130928633 C T rs11549260 CIZ1 Nonsynonymous SNV R746Q 0.06 0.055 0.037 18 71 21 0.046 11 1 0 0 0 Benign 23.3 34553 chr19 56538665 56538665 A G rs200541204 NLRP5 Nonsynonymous SNV R356G 0.01 0.008 0 4 12 3 0.01 0 0 0 0 0 Likely benign 14.74 34554 chr19 6586268 6586268 G A rs1862511 CD70 Synonymous SNV C115C 0.315 0.315 0.333 143 370 121 0.367 98 55 18 17 19 0.196 34555 chr19 8999550 8999550 C T rs78879019 MUC16 Nonsynonymous SNV G13542E 0.207 0.219 0 91 243 84 0.233 0 0 0 0 0 20.4 34556 chr19 6590988 6590988 G A rs776250575 CD70 Nonsynonymous SNV S9L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.2 34557 chr9 131020382 131020382 C G rs41276652 GOLGA2 Synonymous SNV L756L 0.062 0.042 0.078 28 73 16 0.072 23 4 0 1 0 6.165 34558 chr19 56538721 56538721 C T rs776683793 NLRP5 Synonymous SNV D374D 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 5.221 34559 chr19 8999554 8999554 C G rs769311065 MUC16 Nonsynonymous SNV D13541H 0.494 0.495 0.248 192 580 190 0.492 73 0 0 0 0 12.63 34560 chr9 131020400 131020400 C G rs41276654 GOLGA2 Nonsynonymous SNV R750S 0.062 0.042 0.082 28 73 16 0.072 24 4 0 1 0 9.767 34561 chr19 53304151 53304151 G A rs140236012 ZNF28 Nonsynonymous SNV T263I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 34562 chr19 8999555 8999555 C T rs527778271 MUC16 Synonymous SNV K13540K 0.388 0.365 0.054 138 455 140 0.354 16 0 0 0 0 10.35 34563 chr19 53612989 53612989 A G rs1054484 ZNF415 Synonymous SNV D103D 0.174 0.182 0.18 67 204 70 0.172 53 23 10 8 8 0.144 34564 chr9 131020796 131020798 CCT - rs112603354 GOLGA2 E703del 0.117 0.112 0.075 64 137 43 0.164 22 13 2 3 6 34565 chr19 8999560 8999560 T C rs77501519 MUC16 Nonsynonymous SNV K13539E 0.486 0.49 0.231 192 571 188 0.492 68 0 0 0 0 7.789 34566 chr9 131085373 131085373 G C rs3003601 COQ4 Nonsynonymous SNV G50A 1 1 0.99 388 1174 384 0.995 291 587 192 145 193 0.08 34567 chr19 58907700 58907700 G A rs112710702 RNF225 Nonsynonymous SNV D82N 0.065 0.042 0.041 27 76 16 0.069 12 1 1 0 0 23.3 34568 chr19 8999561 8999561 G A rs770997019 MUC16 Synonymous SNV P13538P 0.496 0.492 0.221 193 582 189 0.495 65 0 0 0 0 0.299 34569 chr9 131196695 131196695 C T rs7258 CERCAM Synonymous SNV L368L 0.2 0.19 0.163 80 235 73 0.205 48 22 8 5 7 11.83 34570 chr19 8999564 8999564 C T rs767254545 MUC16 Synonymous SNV R13537R 0.492 0.492 0.167 192 578 189 0.492 49 0 0 0 0 0.073 34571 chr9 131196704 131196704 G A rs7259 CERCAM Synonymous SNV K371K 0.206 0.198 0.177 82 242 76 0.21 52 22 9 7 8 9.584 34572 chr19 50812342 50812342 C T rs190695624 MYH14 Synonymous SNV A1915A 0.005 0.016 0.01 1 6 6 0.003 3 0 0 0 0 Benign 17.92 34573 chr9 131235321 131235321 A G rs4512487 ODF2, ODF2 Synonymous SNV T175T 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 6.46 34574 chr19 6736607 6736607 A G rs4807897 GPR108 Nonsynonymous SNV L79P 0.016 0.016 0.014 7 19 6 0.018 4 0 0 0 0 12.78 34575 chr9 37974743 37974743 T C rs1138374 SHB Synonymous SNV S310S 0.472 0.521 0.51 194 554 200 0.497 150 128 56 38 45 1.25 34576 chr9 131285955 131285955 A G rs2275260 GLE1 Nonsynonymous SNV I243V 0.252 0.242 0.241 86 296 93 0.221 71 40 8 7 12 Benign 0.009 34577 chr19 56419263 56419263 T C rs17711239 NLRP13 Nonsynonymous SNV N781S 0.136 0.107 0.116 54 160 41 0.138 34 11 2 2 5 7.286 34578 chr9 38396065 38396065 G T rs2073478 ALDH1B1 Nonsynonymous SNV R107L 0.664 0.682 0.633 264 780 262 0.677 186 259 90 62 94 Benign 23.4 34579 chr9 131346218 131346218 A C rs10760566 SPTAN1 Synonymous SNV A721A 0.998 0.997 0.997 387 1172 383 0.992 293 585 191 146 192 1.319 34580 chr9 131360750 131360750 C T rs2227864 SPTAN1 Synonymous SNV L1142L 0.878 0.883 0.908 351 1031 339 0.9 267 457 149 123 156 Benign 12.25 34581 chr9 38396372 38396372 G A rs145426005 ALDH1B1 Synonymous SNV K209K 0.032 0.044 0.007 18 37 17 0.046 2 0 0 0 0 Benign 8.958 34582 chr19 6744903 6744903 A C rs62125118 TRIP10 Synonymous SNV A294A 0.015 0.016 0.01 6 18 6 0.015 3 0 0 0 0 1.132 34583 chr9 131375701 131375701 A G rs1415568 SPTAN1 Synonymous SNV L1670L 0.998 0.997 0.997 387 1172 383 0.992 293 585 191 146 192 11.33 34584 chr19 9002625 9002625 A G rs749944282 MUC16 Synonymous SNV H13397H 0.037 0.042 0.024 11 44 16 0.028 7 0 0 0 0 0.086 34585 chr19 50881529 50881529 T C NR1H2 Nonsynonymous SNV L102P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 34586 chr19 6755290 6755290 G A rs548861462 SH2D3A Nonsynonymous SNV T178M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.952 34587 chr9 131379967 131379967 C T rs2227862 SPTAN1 Synonymous SNV T1777T 0.873 0.875 0.901 351 1025 336 0.9 265 453 148 121 156 Benign 11.26 34588 chr19 9002631 9002631 G A rs766280021 MUC16 Synonymous SNV C13395C 0.015 0.016 0.01 3 18 6 0.008 3 0 0 0 0 0.802 34589 chr1 94037329 94037329 C T rs2295330 BCAR3 Synonymous SNV A300A 0.009 0.026 0.01 5 11 10 0.013 3 0 0 0 0 13.33 34590 chr9 131397479 131397479 G A rs4837291 WDR34 Synonymous SNV T291T 0.876 0.878 0.901 352 1029 337 0.903 265 454 147 121 157 Benign 9.27 34591 chr9 38396906 38396906 C - rs201408956 ALDH1B1 G388Efs*23 0.037 0.049 0.007 21 44 19 0.054 2 1 0 0 0 34592 chr1 94342564 94342564 C A rs3747965 DNTTIP2 Nonsynonymous SNV E309D 0.353 0.354 0.361 127 415 136 0.326 106 74 23 25 20 6.287 34593 chr19 53793175 53793175 T C rs34899413 BIRC8 0.01 0.016 0.003 2 12 6 0.005 1 0 0 0 0 0.019 34594 chr9 131398636 131398636 C T rs10760570 WDR34 Synonymous SNV Q209Q 0.872 0.872 0.874 352 1024 335 0.903 257 450 145 119 157 Benign 8.856 34595 chr19 59061357 59061357 C T rs3816328 TRIM28 Synonymous SNV P716P 0.03 0.052 0.031 13 35 20 0.033 9 0 0 0 1 12.18 34596 chr19 9003645 9003645 G A rs11085777 MUC16 Nonsynonymous SNV T13332I 0.33 0.297 0.333 131 387 114 0.336 98 58 14 19 24 9.367 34597 chr1 94343023 94343023 A G rs2391322 DNTTIP2 Synonymous SNV P156P 0.372 0.37 0.388 130 437 142 0.333 114 82 25 27 22 0.061 34598 chr9 131403096 131403096 A G rs2298045 WDR34 Synonymous SNV Y103Y 0.879 0.88 0.908 354 1032 338 0.908 267 456 148 122 159 Benign 0.009 34599 chr9 71628207 71628207 G C rs3730386 PRKACG Nonsynonymous SNV H268D 0.298 0.286 0.33 123 350 110 0.315 97 41 20 19 19 0.071 34600 chr19 59073613 59073613 A G rs73562704 MZF1 Synonymous SNV G677G 0.032 0.052 0.037 15 38 20 0.038 11 0 0 0 1 0.116 34601 chr9 131418828 131418828 A C rs4837292 WDR34 Nonsynonymous SNV W60G 1 1 0.915 387 1174 384 0.992 269 587 192 134 193 Benign 16.01 34602 chr19 6890519 6890519 G A ADGRE1 Nonsynonymous SNV G20E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 34603 chr19 59074429 59074429 C T rs2228162 MZF1 Synonymous SNV T405T 0.032 0.055 0.037 15 38 21 0.038 11 0 0 0 1 17.2 34604 chr19 56499242 56499242 C T rs147035967 NLRP8 Nonsynonymous SNV T1018M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 34605 chr9 131483749 131483749 T A rs2900268 ZDHHC12 Nonsynonymous SNV Q227L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.526 34606 chr1 94544233 94544233 G A rs4147831 ABCA4 Synonymous SNV H423H 0.056 0.055 0.034 16 66 21 0.041 10 2 0 0 0 Benign/Likely benign 1.123 34607 chr19 6042059 6042059 C T rs2288846 RFX2 Nonsynonymous SNV A86T 0.299 0.333 0.265 107 351 128 0.274 78 54 21 11 15 14.68 34608 chr19 9006370 9006370 A G rs79341062 MUC16 Synonymous SNV Y13216Y 0.457 0.443 0.269 176 536 170 0.451 79 0 0 0 0 Benign 0.006 34609 chr9 131565554 131565554 T C rs1572912 TBC1D13 Nonsynonymous SNV V190A 0.362 0.333 0.337 116 425 128 0.297 99 83 23 13 20 0.002 34610 chr9 71862975 71862975 C T rs2282336 TJP2 Synonymous SNV T909T 0.198 0.193 0.204 77 233 74 0.197 60 21 4 6 5 Benign/Likely benign 16.96 34611 chr9 71862987 71862987 G A rs2095876 TJP2 Synonymous SNV A913A 0.2 0.201 0.207 80 235 77 0.205 61 21 4 6 5 Benign 15.6 34612 chr9 131585069 131585069 A G rs2280843 SPOUT1 Nonsynonymous SNV I369T 0.688 0.716 0.707 279 808 275 0.715 208 286 100 73 102 0.003 34613 chr9 72131953 72131953 C T rs149995729 APBA1 Synonymous SNV E58E 0.026 0.034 0.003 9 31 13 0.023 1 1 1 0 0 7.235 34614 chr1 94930345 94930345 G A rs16946 ABCD3 Synonymous SNV K54K 0.531 0.56 0.514 201 623 215 0.515 151 166 60 37 51 Benign 12.48 34615 chr9 131586374 131586374 G A rs7033070 SPOUT1 Synonymous SNV A297A 0.308 0.276 0.279 108 362 106 0.277 82 63 14 11 15 9.604 34616 chr9 131588888 131588888 G C rs6478854 SPOUT1 Nonsynonymous SNV T130R 0.362 0.341 0.333 118 425 131 0.303 98 83 24 13 19 9.235 34617 chr19 9010648 9010648 T C rs756739393 MUC16 Nonsynonymous SNV T13005A 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 0.001 34618 chr19 6187369 6187369 T A ACSBG2 Nonsynonymous SNV I539N 0.003 0 0 0 4 0 0 0 0 0 0 0 27 34619 chr9 131670919 131670919 T C rs3750319 LRRC8A Synonymous SNV R492R 0.712 0.732 0.728 292 836 281 0.749 214 304 101 80 107 Benign 0.003 34620 chr19 9010650 9010650 G A rs778952678 MUC16 Nonsynonymous SNV T13004I 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 13.53 34621 chr9 131689361 131689361 G A rs751340 PHYHD1 Synonymous SNV A26A 0.415 0.388 0.412 139 487 149 0.356 121 110 19 23 20 12.48 34622 chr19 620407 620407 G A rs145264742 POLRMT Synonymous SNV A907A 0.018 0.008 0.024 17 21 3 0.044 7 0 0 0 0 6.011 34623 chr19 9010655 9010655 G T MUC16 Nonsynonymous SNV S13002R 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 7.516 34624 chr9 131702891 131702891 A G rs2273866 PHYHD1 Nonsynonymous SNV E193G 0.413 0.391 0.415 139 485 150 0.356 122 109 20 24 20 23.1 34625 chr19 621090 621090 C T rs139383492 POLRMT Nonsynonymous SNV D870N 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 23.8 34626 chr19 9010658 9010658 G A rs561116953 MUC16 Synonymous SNV P13001P 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 1.669 34627 chr19 57175578 57175578 C T rs12610410 ZNF835 Nonsynonymous SNV G330D 0.139 0.151 0.136 69 163 58 0.177 40 11 5 2 6 25.5 34628 chr1 96488174 96488174 A G rs161128 LINC02790 0 0 0.456 0 0 0 0 134 0 0 29 0 3.62 34629 chr9 131767668 131767668 A C rs2287363 NUP188 Synonymous SNV S1532S 0.425 0.411 0.425 145 499 158 0.372 125 116 22 24 22 Benign 5.837 34630 chr19 9010661 9010661 G T rs746820148 MUC16 Synonymous SNV L13000L 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 0.331 34631 chr19 621561 621561 C A rs10421235 POLRMT Nonsynonymous SNV V713L 0.032 0.016 0.044 13 37 6 0.033 13 4 0 1 0 11.74 34632 chr1 96488206 96488206 G A rs12119760 LINC02790 0 0 0.105 0 0 0 0 31 0 0 0 0 4.834 34633 chr19 9010676 9010676 C T rs749351050 MUC16 Synonymous SNV G12995G 0.013 0.01 0.007 3 15 4 0.008 2 0 0 0 0 10.65 34634 chr9 131771505 131771505 C T rs1129098 SH3GLB2 Synonymous SNV P320P 0.403 0.38 0.401 136 473 146 0.349 118 103 19 23 20 10.57 34635 chr9 73150873 73150873 T G rs17535963 TRPM3 Nonsynonymous SNV N1544T 0.302 0.339 0.344 118 354 130 0.303 101 58 21 19 17 11.19 34636 chr1 96488261 96488261 A T rs1146527 LINC02790 0 0 0.867 0 0 0 0 255 0 0 110 0 1.436 34637 chr19 9010677 9010677 C T rs796151917 MUC16 Nonsynonymous SNV G12995E 0.012 0.01 0.007 3 14 4 0.008 2 0 0 0 0 8.099 34638 chr1 96488283 96488283 T C rs1146528 LINC02790 0 0 0.997 0 0 0 0 293 0 0 146 0 2.845 34639 chr9 131846957 131846957 T C rs11541836 DOLPP1 Synonymous SNV S29S 0.635 0.648 0.626 264 746 249 0.677 184 240 79 63 89 8.501 34640 chr19 9010679 9010679 T A rs796404806 MUC16 Synonymous SNV S12994S 0.013 0.013 0.007 3 15 5 0.008 2 0 0 0 0 7.776 34641 chr19 7125297 7125297 G A rs1799817 INSR Synonymous SNV H1073H 0.175 0.133 0.17 62 205 51 0.159 50 24 2 2 8 Benign 2.157 34642 chr19 9010685 9010685 C T rs797020499 MUC16 Synonymous SNV G12992G 0.01 0.013 0.007 5 12 5 0.013 2 0 0 0 0 6.233 34643 chr9 73150918 73150918 C T rs41287373 TRPM3 Nonsynonymous SNV R1529K 0.296 0.328 0.344 115 347 126 0.295 101 56 20 19 17 15.53 34644 chr9 131860901 131860901 G T rs3118635 CRAT Nonsynonymous SNV L372M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.24 34645 chr19 51294098 51294098 C T rs145475625 ACP4 Nonsynonymous SNV P95L 0.049 0.052 0.017 10 57 20 0.026 5 4 0 0 0 24 34646 chr19 6222552 6222552 C T rs139655596 MLLT1 Synonymous SNV S230S 0.044 0.044 0.031 14 52 17 0.036 9 0 0 0 0 13.61 34647 chr19 9010688 9010688 A T MUC16 Synonymous SNV L12991L 0.012 0.018 0.007 4 14 7 0.01 2 0 0 0 0 0.026 34648 chr19 7141727 7141727 G A rs2229432 INSR Synonymous SNV I869I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 16.8 34649 chr1 9714538 9714538 - GA rs150187930 PIK3CD-AS1 0 0 0.418 0 0 0 0 123 0 0 27 0 34650 chr19 9010693 9010693 C G rs796074138 MUC16 Nonsynonymous SNV D12990H 0.011 0.018 0.014 3 13 7 0.008 4 0 0 0 0 0.469 34651 chr1 9714539 9714539 T G rs56017286 PIK3CD-AS1 0 0 0.415 0 0 0 0 122 0 0 27 0 0.649 34652 chr9 132374678 132374678 T C rs3087721 C9orf50 Nonsynonymous SNV K415R 0.029 0.021 0.027 15 34 8 0.038 8 3 0 0 2 0.408 34653 chr19 56704260 56704260 C T rs61742908 ZSCAN5B Synonymous SNV E54E 0.04 0.034 0.02 16 47 13 0.041 6 0 0 0 1 9.034 34654 chr19 7142843 7142843 C G rs2229430 INSR Synonymous SNV A830A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 17.57 34655 chr1 9714541 9714541 - CA rs56235370 PIK3CD-AS1 0 0 0.415 0 0 0 0 122 0 0 27 0 34656 chr19 9010694 9010694 C T MUC16 Synonymous SNV V12989V 0.011 0.018 0.014 3 13 7 0.008 4 0 0 0 0 7.561 34657 chr19 56704399 56704399 G A rs61745809 ZSCAN5B Nonsynonymous SNV S8L 0.044 0.036 0.02 17 52 14 0.044 6 0 0 0 1 14.9 34658 chr1 9714543 9714543 - CCCC rs55851927 PIK3CD-AS1 0 0 0.412 0 0 0 0 121 0 0 27 0 34659 chr19 7142921 7142921 C T rs2229434 INSR Synonymous SNV T804T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 18.74 34660 chr19 9012791 9012791 G T rs750193122 MUC16 Synonymous SNV R12885R 0.017 0.026 0 6 20 10 0.015 0 0 0 0 0 7.041 34661 chr9 132400480 132400480 G A rs3739851 ASB6 Synonymous SNV A256A 0.565 0.625 0.561 219 663 240 0.562 165 190 73 43 57 11.04 34662 chr1 9714544 9714544 - G rs55746245 PIK3CD-AS1 0 0 0.401 0 0 0 0 118 0 0 26 0 34663 chr19 624894 624894 T A rs138732981 POLRMT Nonsynonymous SNV Q322L 0.032 0.034 0.031 8 37 13 0.021 9 2 1 1 0 24.9 34664 chr19 7152775 7152775 C T rs6413501 INSR Synonymous SNV T731T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 19.4 34665 chr19 9012795 9012795 C T rs574443275 MUC16 Synonymous SNV T12883T 0.016 0.023 0 7 19 9 0.018 0 0 0 0 0 10.08 34666 chr9 132402908 132402908 C G rs2241247 ASB6 Synonymous SNV V69V 0.982 0.984 0.98 380 1153 378 0.974 288 567 186 141 185 16.28 34667 chr1 9782386 9782386 C T rs139848768 PIK3CD Synonymous SNV S744S 0.01 0.01 0.014 4 12 4 0.01 4 0 0 0 0 Benign 15.83 34668 chr9 132580901 132580901 C G rs1801968 TOR1A Nonsynonymous SNV D216H 0.118 0.115 0.116 43 138 44 0.11 34 6 2 1 2 Benign 26.7 34669 chr19 7267390 7267390 G A rs56012021 INSR Synonymous SNV V206V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign/Likely benign 5.872 34670 chr1 9811653 9811653 C T rs35331030 CLSTN1 Nonsynonymous SNV G166E 0.009 0.008 0.014 3 11 3 0.008 4 0 0 0 0 28.4 34671 chr19 625207 625207 G A rs41540112 POLRMT Synonymous SNV A290A 0.018 0.005 0.027 17 21 2 0.044 8 0 0 0 0 7.456 34672 chr19 7293898 7293898 G C rs7508518 INSR Nonsynonymous SNV A2G 0.525 0.474 0.473 199 616 182 0.51 139 308 91 69 99 Benign 0.499 34673 chr9 132585058 132585058 G A rs2296793 TOR1A Synonymous SNV A82A 0.28 0.271 0.248 111 329 104 0.285 73 47 13 9 20 Benign 8.043 34674 chr19 54610170 54610170 C T rs1061333 NDUFA3 Synonymous SNV D72D 0.027 0.023 0.037 16 32 9 0.041 11 0 0 0 0 14.9 34675 chr9 132591509 132591509 A G rs3818553 C9orf78 Synonymous SNV G251G 0.314 0.313 0.286 116 369 120 0.297 84 61 15 13 19 4.917 34676 chr19 54627164 54627164 G A rs1058572 PRPF31 Synonymous SNV E188E 0.013 0.008 0.007 8 15 3 0.021 2 0 0 0 0 Benign 16.11 34677 chr19 56720093 56720093 G A rs140150496 ZSCAN5C Nonsynonymous SNV A339T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.728 34678 chr9 74305098 74305098 C T rs2297089 CEMIP2 Nonsynonymous SNV S1191N 0.046 0.039 0.031 15 54 15 0.038 9 1 0 0 0 22.4 34679 chr9 132597021 132597021 C T rs3814547 C9orf78 Synonymous SNV E36E 0.312 0.315 0.282 115 366 121 0.295 83 61 15 13 19 16.03 34680 chr19 9019605 9019605 C G rs12981679 MUC16 Nonsynonymous SNV S12514T 0.813 0.841 0.806 315 955 323 0.808 237 377 137 95 124 8.657 34681 chr9 132620364 132620364 T C rs10819568 USP20 Synonymous SNV F57F 0.916 0.904 0.871 364 1075 347 0.933 256 492 155 111 170 0.375 34682 chr19 7440670 7440670 G A rs1025281 ARHGEF18 Nonsynonymous SNV A114T 0.01 0.021 0.02 2 12 8 0.005 6 0 0 1 0 0.78 34683 chr9 74360395 74360395 T C rs76670837 CEMIP2 Synonymous SNV A191A 0.079 0.089 0.116 34 93 34 0.087 34 3 2 3 1 4.334 34684 chr9 132623293 132623293 C T rs1503375 USP20 Synonymous SNV D136D 0.888 0.896 0.847 359 1043 344 0.921 249 463 152 104 165 14.3 34685 chr19 9020153 9020153 C T rs75217292 MUC16 Nonsynonymous SNV E12448K 0.14 0.12 0.122 51 164 46 0.131 36 14 5 6 1 16.02 34686 chr19 5778517 5778517 A T rs2305925 CATSPERD Nonsynonymous SNV T743S 0.167 0.169 0.218 64 196 65 0.164 64 16 7 7 7 7.759 34687 chr9 132623868 132623868 T C rs10115249 USP20 Synonymous SNV A158A 0.916 0.906 0.871 364 1075 348 0.933 256 492 156 111 170 0.04 34688 chr19 9020154 9020154 A G rs11882881 MUC16 Synonymous SNV S12447S 0.434 0.453 0.432 164 509 174 0.421 127 112 38 31 28 0.144 34689 chr9 132630665 132630667 GAC - rs10602985 USP20 D359del 0.885 0.893 0.85 359 1039 343 0.921 250 459 151 105 165 34690 chr19 9025604 9025604 A G rs200791776 MUC16 Synonymous SNV L12284L 0.409 0.409 0.269 165 480 157 0.423 79 0 0 0 0 0.285 34691 chr1 9992024 9992024 C G rs146375448 LZIC Nonsynonymous SNV A147P 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 0 14.77 34692 chr9 132631680 132631680 T C rs6478920 USP20 Synonymous SNV L456L 0.917 0.909 0.874 364 1077 349 0.933 257 494 157 112 170 1.16 34693 chr9 75545882 75545882 G A rs13959 ALDH1A1 Synonymous SNV S75S 0.461 0.487 0.401 168 541 187 0.431 118 129 41 25 31 14.09 34694 chr19 9046876 9046876 G T rs4804378 MUC16 Nonsynonymous SNV S11585R 0.169 0.177 0.139 70 198 68 0.179 41 14 5 5 6 4.096 34695 chr9 132637712 132637712 G A rs735115 USP20 Synonymous SNV A724A 0.393 0.388 0.347 151 461 149 0.387 102 90 27 16 30 8.073 34696 chr19 51323676 51323676 C T rs5515 KLK1 Nonsynonymous SNV R77H 0.043 0.049 0.048 12 50 19 0.031 14 4 0 0 0 Affects 22.7 34697 chr20 10019093 10019093 A G rs575534 ANKEF1 Synonymous SNV G48G 0.589 0.583 0.571 220 691 224 0.564 168 202 66 44 59 5.555 34698 chr19 7533789 7533789 G C rs754464153 ARHGEF18 Nonsynonymous SNV V945L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Uncertain significance 2.282 34699 chr9 132686186 132686186 A G rs4836680 FNBP1 Synonymous SNV H340H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.609 34700 chr20 10277621 10277621 C T rs362998 SNAP25 Synonymous SNV D110D 0.072 0.057 0.092 23 84 22 0.059 27 5 1 1 1 Benign 10.14 34701 chr20 10603326 10603326 A G rs73075324 SLX4IP Nonsynonymous SNV K176E 0.025 0.031 0.054 9 29 12 0.023 16 1 0 0 0 18.25 34702 chr9 132720770 132720770 A G rs17519205 FNBP1 Synonymous SNV S136S 0.146 0.128 0.122 39 171 49 0.1 36 14 2 2 0 0.142 34703 chr20 10603750 10603750 G A rs6077853 SLX4IP Nonsynonymous SNV R317Q 0.105 0.154 0.139 33 123 59 0.085 41 6 5 1 0 16.73 34704 chr9 132872686 132872686 A G rs4837460 GPR107 Synonymous SNV L448L 0.963 0.943 0.942 377 1130 362 0.967 277 544 171 130 182 3.305 34705 chr19 7569282 7569282 A G rs484870 TEX45 Nonsynonymous SNV D256G 0.318 0.341 0.262 124 373 131 0.318 77 65 24 17 21 0.067 34706 chr9 132988709 132988709 T G rs2277200 NCS1 Synonymous SNV G154G 0.328 0.341 0.337 124 385 131 0.318 99 64 17 16 17 11.05 34707 chr20 10620386 10620386 A G rs1051419 JAG1 Synonymous SNV Y1139Y 0.636 0.693 0.694 264 747 266 0.677 204 240 102 75 88 Benign 0.003 34708 chr9 133346226 133346226 C T rs10901072 ASS1 Synonymous SNV H167H 0.123 0.138 0.136 58 144 53 0.149 40 7 5 1 6 Benign 11.01 34709 chr19 9048320 9048320 C T rs56334501 MUC16 Nonsynonymous SNV S11104N 0.168 0.177 0.139 70 197 68 0.179 41 14 5 5 6 2.116 34710 chr20 1099523 1099523 T G rs1803415 PSMF1 Nonsynonymous SNV F36C 0.849 0.872 0.82 316 997 335 0.81 241 422 148 95 128 11.53 34711 chr9 133755528 133755528 A G rs2227985 ABL1 Synonymous SNV E499E 0.082 0.078 0.075 43 96 30 0.11 22 5 1 2 0 11.31 34712 chr19 7570990 7570990 A G rs685048 TEX45 Synonymous SNV R382R 0.322 0.341 0.272 127 378 131 0.326 80 67 24 17 23 1.7 34713 chr9 78803512 78803512 C T rs10521468 PCSK5 Synonymous SNV C767C 0.204 0.195 0.17 91 240 75 0.233 50 24 6 7 14 13.8 34714 chr19 5786815 5786815 G A rs10811 DUS3L Synonymous SNV A235A 0.173 0.177 0.163 67 203 68 0.172 48 18 7 7 7 16.22 34715 chr19 9048421 9048421 T C rs56194405 MUC16 Synonymous SNV T11070T 0.169 0.177 0.139 70 198 68 0.179 41 14 5 5 6 0.071 34716 chr20 1108122 1108122 C T rs6514113 PSMF1 Synonymous SNV I24I 0.074 0.083 0.071 30 87 32 0.077 21 2 2 1 1 20.4 34717 chr9 133760029 133760029 C G rs2229070 ABL1 Synonymous SNV P784P 0.084 0.083 0.075 43 99 32 0.11 22 5 1 2 0 3.515 34718 chr19 7571030 7571030 T A rs3826736 TEX45 Nonsynonymous SNV Y396N 0.315 0.339 0.276 124 370 130 0.318 81 64 23 17 21 2.919 34719 chr9 78853916 78853916 G C rs17062264 PCSK5 Nonsynonymous SNV G970R 0.134 0.133 0.126 53 157 51 0.136 37 9 1 6 5 6.945 34720 chr20 11790885 11790885 - TT rs3036550 LINC00687 0 0 0.619 0 0 0 0 182 0 0 58 0 34721 chr9 133761001 133761001 A G rs1056171 ABL1 Synonymous SNV P1108P 0.557 0.573 0.524 222 654 220 0.569 154 172 63 45 69 2.142 34722 chr20 11791008 11791008 C T rs803665 LINC00687 0 0 0.881 0 0 0 0 259 0 0 113 0 7.992 34723 chr19 54627915 54627915 C T rs11556769 PRPF31 Synonymous SNV P245P 0.087 0.099 0.082 40 102 38 0.103 24 3 3 1 2 Benign 18.72 34724 chr19 7573098 7573098 T A rs475923 TEX45 Nonsynonymous SNV Y434N 0.307 0.333 0.245 123 360 128 0.315 72 60 22 16 20 23.9 34725 chr20 1210647 1210647 T C rs450739 RAD21L1 Nonsynonymous SNV C90R 0.589 0.544 0.514 229 691 209 0.587 151 202 62 41 67 7.774 34726 chr9 133769169 133769169 G A rs3847193 QRFP Synonymous SNV F19F 0.311 0.336 0.228 124 365 129 0.318 67 47 21 9 22 5.77 34727 chr19 54634830 54634830 C T rs62144168 PRPF31 Synonymous SNV V489V 0.081 0.096 0.078 39 95 37 0.1 23 3 3 1 2 Benign 13.69 34728 chr19 7573287 7573287 C T rs1133378 TEX45 Nonsynonymous SNV P497S 0.277 0.294 0.194 115 325 113 0.295 57 51 18 9 18 11.38 34729 chr9 133787225 133787225 A G rs6597650 FIBCD1 Synonymous SNV D300D 0.367 0.372 0.289 158 431 143 0.405 85 66 19 15 30 0.37 34730 chr20 1214814 1214814 A C rs203534 RAD21L1 Nonsynonymous SNV I152L 0.576 0.539 0.51 228 676 207 0.585 150 216 66 45 70 0.219 34731 chr19 57133633 57133633 C T rs35011777 ZNF71 Synonymous SNV Y326Y 0.032 0.044 0.037 16 37 17 0.041 11 1 1 1 0 11.95 34732 chr19 9049910 9049910 C T rs56307190 MUC16 Nonsynonymous SNV R10574H 0.168 0.177 0.139 70 197 68 0.179 41 14 5 5 6 10.04 34733 chr19 7573297 7573297 T C rs608144 TEX45 Nonsynonymous SNV L500P 0.308 0.333 0.241 124 362 128 0.318 71 60 22 16 20 0.011 34734 chr9 133884820 133884820 T G rs3739512 LAMC3 Nonsynonymous SNV H73Q 0.451 0.417 0.405 172 530 160 0.441 119 115 31 25 32 Benign 9.671 34735 chr19 6737516 6737516 C T rs11539591 GPR108 Synonymous SNV V24V 0.232 0.211 0.211 101 272 81 0.259 62 30 16 4 10 13.21 34736 chr20 126311 126312 CC - rs11467417 DEFB126 P106Rfs*26 0.548 0.521 0.612 224 643 200 0.574 180 172 54 53 64 34737 chr20 1285549 1285549 G A rs35467629 SNPH Synonymous SNV T112T 0.095 0.099 0.095 38 111 38 0.097 28 6 1 1 4 9.833 34738 chr19 57325083 57325083 C T rs34051133 PEG3 Nonsynonymous SNV R1421H 0.166 0.201 0.143 67 195 77 0.172 42 13 12 3 4 23.3 34739 chr9 133911598 133911598 A G rs2275132 LAMC3 Synonymous SNV A285A 0.802 0.805 0.837 291 941 309 0.746 246 377 123 106 109 Benign/Likely benign 0.438 34740 chr19 7573301 7573301 C T rs1133380 TEX45 Synonymous SNV C501C 0.277 0.294 0.187 115 325 113 0.295 55 51 18 9 18 6.754 34741 chr9 79117751 79117751 A G rs2282683 GCNT1 Nonsynonymous SNV I152V 0.263 0.26 0.279 105 309 100 0.269 82 34 12 10 11 1.196 34742 chr20 1291076 1291076 G C rs1048628 FKBP1A-SDCBP2 0.523 0.555 0.463 212 614 213 0.544 136 161 63 32 58 2.273 34743 chr9 133911706 133911706 C T rs2275131 LAMC3 Synonymous SNV A321A 0.463 0.487 0.473 170 544 187 0.436 139 130 44 31 36 Benign/Likely benign 14.59 34744 chr20 1293008 1293008 C T rs2273958 SDCBP2 Synonymous SNV V150V 0.515 0.56 0.466 208 605 215 0.533 137 153 64 28 56 9.365 34745 chr19 7615903 7615903 G A rs8107538 PNPLA6 Synonymous SNV P698P 0.279 0.289 0.293 95 327 111 0.244 86 42 21 13 13 Benign 15.7 34746 chr20 1293046 1293046 G A rs1048621 SDCBP2 Nonsynonymous SNV R138C 0.198 0.198 0.238 69 232 76 0.177 70 23 7 8 8 33 34747 chr9 133927878 133927878 A G rs10901333 LAMC3 Nonsynonymous SNV E544G 0.446 0.43 0.483 177 524 165 0.454 142 112 34 36 36 Likely benign 19.11 34748 chr9 79118329 79118329 G A rs1057406 GCNT1 Synonymous SNV L344L 0.263 0.26 0.279 105 309 100 0.269 82 34 12 10 11 3.019 34749 chr19 9056989 9056989 C G rs4804381 MUC16 Nonsynonymous SNV E10153Q 0.169 0.177 0.139 70 198 68 0.179 41 14 5 5 6 0.032 34750 chr9 79318367 79318367 T C rs4745571 PRUNE2 Nonsynonymous SNV N2721S 0.239 0.224 0.224 82 280 86 0.21 66 29 12 10 8 15.07 34751 chr20 1293247 1293247 C T rs2273959 SDCBP2 Nonsynonymous SNV V97M 0.486 0.435 0.527 182 570 167 0.467 155 136 40 38 43 12.99 34752 chr9 133928345 133928345 C T rs12349966 LAMC3 Synonymous SNV S644S 0.428 0.411 0.466 168 503 158 0.431 137 104 30 33 33 Benign/Likely benign 12.9 34753 chr19 7710152 7710152 G A STXBP2 Nonsynonymous SNV R436H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 34754 chr9 133936571 133936571 C G rs3739510 LAMC3 Nonsynonymous SNV R770G 0.849 0.852 0.888 324 997 327 0.831 261 425 137 115 133 Benign/Likely benign 11.61 34755 chr20 13029764 13029764 A C rs1431433 SPTLC3 Synonymous SNV R97R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.003 34756 chr20 13053018 13053018 T G rs243887 SPTLC3 Nonsynonymous SNV L140V 0.779 0.82 0.735 292 915 315 0.749 216 361 129 76 111 0.002 34757 chr19 6760974 6760974 T C rs7258236 SH2D3A Nonsynonymous SNV N32D 0.228 0.216 0.187 88 268 83 0.226 55 30 10 5 9 4.836 34758 chr9 133948049 133948049 A G rs2275140 LAMC3 Nonsynonymous SNV S1082G 0.886 0.896 0.721 341 1040 344 0.874 212 463 153 101 147 Benign 1.221 34759 chr20 13053035 13053035 A G rs243888 SPTLC3 Synonymous SNV S145S 0.704 0.75 0.663 270 827 288 0.692 195 300 111 61 97 0.326 34760 chr20 13695607 13695607 T G rs34414644 ESF1 Nonsynonymous SNV I824L 0.083 0.081 0.051 33 97 31 0.085 15 5 0 2 1 17.89 34761 chr19 6763718 6763718 A G rs2305805 SH2D3A Synonymous SNV P14P 0.229 0.219 0.187 90 269 84 0.231 55 30 10 5 9 3.199 34762 chr19 9057721 9057721 C T rs2216662 MUC16 Nonsynonymous SNV V9909I 0.391 0.393 0.371 150 459 151 0.385 109 83 26 24 27 1.407 34763 chr9 133962930 133962930 C T rs7024108 LAMC3 Nonsynonymous SNV T1433M 0.287 0.299 0.306 125 337 115 0.321 90 43 16 12 18 Benign/Likely benign 24.2 34764 chr19 51563728 51563728 G A rs777654181 KLK13 Synonymous SNV H67H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 8.612 34765 chr19 6772872 6772872 G C rs45448796 VAV1 Synonymous SNV P18P 0.156 0.146 0.153 46 183 56 0.118 45 14 2 3 3 Benign 12.55 34766 chr20 13747441 13747441 A G rs3180370 ESF1 Nonsynonymous SNV I550T 0.731 0.727 0.684 305 858 279 0.782 201 318 98 78 118 0.192 34767 chr9 133981629 133981629 T C rs2315075 AIF1L Nonsynonymous SNV C50R 0.158 0.174 0.156 57 185 67 0.146 46 10 4 2 4 0.243 34768 chr20 13830179 13830179 G A rs62640920 SEL1L2 Synonymous SNV G430G 0.106 0.146 0.119 49 125 56 0.126 35 6 3 2 4 7.915 34769 chr20 13847420 13847420 A G rs660710 SEL1L2 Synonymous SNV L313L 0.977 0.971 0.973 380 1147 373 0.974 286 561 181 139 185 0.105 34770 chr20 139456 139456 G A rs12624954 DEFB127 Nonsynonymous SNV G31R 0.317 0.281 0.333 119 372 108 0.305 98 71 16 20 20 23.3 34771 chr9 134020092 134020092 C T rs103612 NUP214 Nonsynonymous SNV P574S 0.68 0.664 0.643 268 798 255 0.687 189 283 85 61 89 22.4 34772 chr19 549725 549725 T C rs58562291 GZMM Synonymous SNV P197P 0.052 0.047 0.068 24 61 18 0.062 20 1 0 1 2 0.015 34773 chr20 139576 139576 C A rs16995685 DEFB127 Nonsynonymous SNV R71S 0.319 0.292 0.33 119 375 112 0.305 97 70 16 19 20 3.449 34774 chr19 9058624 9058624 G A rs11878666 MUC16 Nonsynonymous SNV P9608S 0.17 0.177 0.139 70 199 68 0.179 41 14 5 5 6 1.443 34775 chr19 549728 549728 C G rs58601458 GZMM Synonymous SNV P198P 0.052 0.047 0.065 24 61 18 0.062 19 1 0 1 2 5.71 34776 chr9 134053723 134053723 G A rs144670924 NUP214 Synonymous SNV T1105T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.25 34777 chr9 134136515 134136515 A G rs352952 FAM78A Synonymous SNV N182N 0.995 0.995 0.983 386 1168 382 0.99 289 581 190 142 191 0.367 34778 chr20 14066276 14066276 C T rs2990505 MACROD2 Nonsynonymous SNV T58I 0.202 0.211 0.279 81 237 81 0.208 82 44 19 13 14 22 34779 chr19 9058942 9058942 C T rs1833778 MUC16 Nonsynonymous SNV A9502T 0.39 0.393 0.371 151 458 151 0.387 109 82 26 24 27 0.861 34780 chr19 804184 804184 C T rs61757784 PTBP1 Synonymous SNV L88L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 13.34 34781 chr9 134136677 134136677 A G rs352951 FAM78A Synonymous SNV D128D 0.995 0.995 0.983 386 1168 382 0.99 289 581 190 142 191 0.017 34782 chr9 134183379 134183379 C T rs2966332 PLPP7 Nonsynonymous SNV T174M 0.757 0.742 0.786 289 889 285 0.741 231 336 103 89 108 16.64 34783 chr20 1426393 1426393 C T rs9575 NSFL1C Nonsynonymous SNV D259N 0.364 0.375 0.31 149 427 144 0.382 91 87 28 18 28 21.7 34784 chr19 51738917 51738917 G A rs35112940 CD33 Nonsynonymous SNV G177R 0.166 0.146 0.119 51 195 56 0.131 35 15 4 2 7 6.842 34785 chr20 14306953 14306953 G T rs6079391 FLRT3 Nonsynonymous SNV H400Q 0.373 0.367 0.412 143 438 141 0.367 121 79 24 22 27 4.54 34786 chr9 134183503 134183503 T C rs2986606 PLPP7 Synonymous SNV R215R 0.758 0.742 0.786 289 890 285 0.741 231 337 103 89 108 0.997 34787 chr20 1459060 1459060 T G rs6042507 SIRPB2 Nonsynonymous SNV E215A 0.848 0.875 0.833 333 995 336 0.854 245 425 149 102 141 1.014 34788 chr9 134346315 134346315 T C rs4310250 PRRC2B Synonymous SNV R684R 0.929 0.924 0.952 365 1091 355 0.936 280 509 165 133 171 0.026 34789 chr19 55054628 55054628 G A rs78107621 KIR3DX1 0.009 0.013 0.003 8 11 5 0.021 1 0 0 0 0 1.673 34790 chr9 134350231 134350231 C T rs17458486 PRRC2B Synonymous SNV N905N 0.055 0.063 0.037 20 64 24 0.051 11 5 2 0 1 0.14 34791 chr19 7163140 7163140 T G rs2245655 INSR Synonymous SNV P644P 0.085 0.122 0.116 35 100 47 0.09 34 4 4 4 5 Benign 1.75 34792 chr9 134350647 134350647 T C rs10793873 PRRC2B Nonsynonymous SNV M1044T 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.006 34793 chr20 1532595 1532595 T C rs2249317 SIRPD Nonsynonymous SNV N55D 0.91 0.906 0.925 353 1068 348 0.905 272 486 157 127 160 5.226 34794 chr19 55401170 55401170 A G rs16986050 FCAR Nonsynonymous SNV S161G 0.076 0.099 0.092 39 89 38 0.1 27 5 2 2 2 0.004 34795 chr19 9060085 9060085 C T rs4804382 MUC16 Nonsynonymous SNV A9121T 0.169 0.177 0.143 70 198 68 0.179 42 13 5 5 6 10.69 34796 chr19 7163154 7163154 G A rs2963 INSR Synonymous SNV L640L 0.085 0.122 0.116 35 100 47 0.09 34 4 4 4 5 Benign 1.99 34797 chr9 134351065 134351065 G T rs7858488 PRRC2B Synonymous SNV G1183G 0.93 0.924 0.952 367 1092 355 0.941 280 510 165 133 173 0.112 34798 chr20 1546911 1546911 C G rs2243603 SIRPB1 Nonsynonymous SNV A146P 0.807 0.82 0.816 306 947 315 0.785 240 382 126 98 123 0.432 34799 chr19 7166388 7166388 G A rs2229429 INSR Synonymous SNV D546D 0.227 0.245 0.252 84 266 94 0.215 74 33 12 9 11 Benign 7.149 34800 chr19 5824284 5824284 G A rs781007858 NRTN Synonymous SNV A36A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.18 34801 chr9 134351343 134351343 C T rs11243403 PRRC2B Nonsynonymous SNV A1276V 0.486 0.531 0.524 191 570 204 0.49 154 145 55 39 48 0.035 34802 chr19 58452334 58452334 G T ZNF256 Nonsynonymous SNV F614L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.782 34803 chr20 1551485 1551485 C T rs2254458 SIRPB1 Synonymous SNV A350A 0.677 0.755 0.707 265 795 290 0.679 208 266 111 74 90 11.5 34804 chr9 134351500 134351500 C T rs113338693 PRRC2B Synonymous SNV P1328P 0.055 0.063 0.037 20 64 24 0.051 11 5 2 0 1 10.41 34805 chr20 1552430 1552430 T C rs2253427 SIRPB1 Nonsynonymous SNV I229M 0.821 0.839 0.85 317 964 322 0.813 250 396 133 106 130 15.09 34806 chr9 134351770 134351770 G A rs78591540 PRRC2B Synonymous SNV K1418K 0.082 0.133 0.095 33 96 51 0.085 28 4 5 1 1 10.29 34807 chr19 9060572 9060572 G A rs56405542 MUC16 Synonymous SNV G8958G 0.168 0.177 0.143 70 197 68 0.179 42 13 5 5 6 5.346 34808 chr20 1559101 1559101 T G rs41275422 SIRPB1 Nonsynonymous SNV S106R 0.21 0.234 0.211 94 246 90 0.241 62 51 16 10 15 0.752 34809 chr9 134358108 134358108 A G rs2275498 PRRC2B Synonymous SNV Q1729Q 0.058 0.057 0.044 16 68 22 0.041 13 5 2 0 1 5.466 34810 chr19 5783905 5783905 G A rs3745640 PRR22 Nonsynonymous SNV P118L 0.135 0.133 0.207 55 158 51 0.141 61 18 8 7 7 25.9 34811 chr20 15874325 15874325 A G rs932501 LOC613266 0 0 0.282 0 0 0 0 83 0 0 7 0 1.464 34812 chr20 1592151 1592152 GA - rs753408061 SIRPB1 L95Hfs*14 0.271 0.328 0.279 97 318 126 0.249 82 129 55 29 41 34813 chr9 134371165 134371165 C T rs41296113 PRRC2B Synonymous SNV A2198A 0.055 0.063 0.037 20 64 24 0.051 11 5 2 0 1 21.6 34814 chr20 1592154 1592154 - AC rs754616582 SIRPB1 Frameshift insertion D94Efs*29 0.277 0.333 0.306 102 325 128 0.262 90 130 55 32 42 34815 chr9 79946961 79946961 C T rs17424026 VPS13A Synonymous SNV Y1970Y 0.092 0.104 0.099 38 108 40 0.097 29 6 3 4 1 Likely benign 12.97 34816 chr20 1592175 1592175 T G rs201724217 SIRPB1 Synonymous SNV P87P 0.375 0.391 0.388 118 440 150 0.303 114 152 58 41 43 0.068 34817 chr9 134385435 134385435 C T rs3887873 POMT1 Stop gain Q134X 0.072 0.104 0.078 32 84 40 0.082 23 3 2 1 1 Benign/Likely benign 28.2 34818 chr19 519336 519336 G A rs112370786 TPGS1 Synonymous SNV G262G 0.152 0.143 0.139 65 179 55 0.167 41 27 10 5 10 Benign 8.323 34819 chr20 1592193 1592193 C T rs371465078 SIRPB1 Synonymous SNV Q81Q 0.395 0.414 0.401 125 464 159 0.321 118 145 60 43 43 0.286 34820 chr9 134385436 134385436 A G rs2296949 POMT1 Nonsynonymous SNV Q134R 0.944 0.938 0.959 369 1108 360 0.946 282 526 170 135 175 Benign 0.018 34821 chr19 51957556 51957556 T C rs3829659 SIGLEC8 Nonsynonymous SNV R295G 0.211 0.25 0.17 94 248 96 0.241 50 24 13 10 9 21.5 34822 chr20 1592215 1592215 C G rs41289057 SIRPB1 Nonsynonymous SNV G74A 0.403 0.419 0.405 130 473 161 0.333 119 145 60 43 43 1.707 34823 chr9 85627408 85627408 G A rs4146960 RASEF Nonsynonymous SNV R262C 0.549 0.539 0.497 223 644 207 0.572 146 170 54 38 66 23.6 34824 chr20 1592265 1592265 A G rs45471597 SIRPB1 Synonymous SNV T57T 0.394 0.411 0.405 126 463 158 0.323 119 145 60 43 43 5.879 34825 chr19 9066874 9066874 G T rs12609150 MUC16 Nonsynonymous SNV P6858T 0.167 0.177 0.143 70 196 68 0.179 42 13 5 5 6 0.003 34826 chr9 134386744 134386744 T C rs10901065 POMT1 Synonymous SNV T140T 0.944 0.938 0.959 369 1108 360 0.946 282 526 170 135 175 Benign 5.992 34827 chr20 1592284 1592284 G A rs1135196 SIRPB1 Nonsynonymous SNV T51I 0.397 0.411 0.405 129 466 158 0.331 119 145 60 43 43 8.134 34828 chr9 85863091 85863091 A G rs10114696 FRMD3 Synonymous SNV Y169Y 0.443 0.469 0.5 184 520 180 0.472 147 109 41 38 46 0.043 34829 chr9 134386781 134386781 G A rs4740164 POMT1 Nonsynonymous SNV V153I 0.055 0.063 0.037 20 64 24 0.051 11 5 2 0 1 Benign/Likely benign 12.23 34830 chr19 9069792 9069792 G A rs1862458 MUC16 Nonsynonymous SNV S5885F 0.167 0.177 0.143 70 196 68 0.179 42 13 5 5 6 5.103 34831 chr20 1592312 1592312 T C rs72484087 SIRPB1 Nonsynonymous SNV I42V 0.401 0.417 0.405 134 471 160 0.344 119 145 60 43 44 1.147 34832 chr19 757399 757399 A C rs3746172 MISP Synonymous SNV A151A 0.114 0.122 0.116 48 134 47 0.123 34 7 2 1 1 0.816 34833 chr19 58753615 58753615 C T rs877796 ZNF544 Nonsynonymous SNV P15L 0.043 0.057 0 19 50 22 0.049 0 0 0 0 0 4.701 34834 chr20 1592343 1592343 T C rs200963975 SIRPB1 Synonymous SNV E31E 0.398 0.417 0.395 130 467 160 0.333 116 145 60 42 43 0.834 34835 chr19 58753649 58753649 G A rs877797 ZNF544 Synonymous SNV E26E 0.035 0.044 0 14 41 17 0.036 0 0 0 0 0 2.816 34836 chr19 757412 757412 A G rs3746173 MISP Nonsynonymous SNV S156G 0.143 0.135 0.133 51 168 52 0.131 39 10 4 2 2 0.002 34837 chr9 134387488 134387488 T C rs3739494 POMT1 Synonymous SNV D197D 0.944 0.938 0.959 369 1108 360 0.946 282 526 170 135 175 Benign 3.446 34838 chr20 1592349 1592349 G A rs777055083 SIRPB1 Synonymous SNV G29G 0.398 0.417 0.388 130 467 160 0.333 114 145 60 41 43 1.949 34839 chr19 9069892 9069892 A C rs1862460 MUC16 Nonsynonymous SNV F5852V 0.17 0.177 0.15 71 199 68 0.182 44 13 5 6 6 0.048 34840 chr19 58755366 58755366 G A rs75072205 ZNF544 Nonsynonymous SNV G47S 0.035 0.044 0.024 14 41 17 0.036 7 0 0 0 0 7.141 34841 chr20 1592352 1592352 A C rs139138248 SIRPB1 Synonymous SNV A28A 0.395 0.414 0.388 130 464 159 0.333 114 144 60 41 43 0.673 34842 chr9 134401335 134401335 C T rs2296957 UCK1 Nonsynonymous SNV A180T 0.926 0.911 0.942 363 1087 350 0.931 277 505 161 131 170 13.28 34843 chr19 58772579 58772579 C G rs6510130 ZNF544 Nonsynonymous SNV H175D 0.035 0.044 0.027 14 41 17 0.036 8 0 0 0 0 15.87 34844 chr19 8191401 8191401 G A rs3813778 FBN3 Synonymous SNV C835C 0.497 0.448 0.452 199 583 172 0.51 133 137 38 31 47 12.53 34845 chr20 1592355 1592355 T C rs145146965 SIRPB1 Synonymous SNV V27V 0.394 0.414 0.388 127 463 159 0.326 114 145 60 41 42 2.952 34846 chr19 757752 757752 G A rs35384259 MISP Nonsynonymous SNV S269N 0.025 0.034 0.034 11 29 13 0.028 10 0 0 1 0 0.151 34847 chr20 1592358 1592358 C T rs145917713 SIRPB1 Synonymous SNV G26G 0.391 0.409 0.388 125 459 157 0.321 114 145 59 41 41 1.197 34848 chr9 134406071 134406071 C G rs7867616 UCK1 Nonsynonymous SNV E29Q 0.923 0.891 0.908 358 1084 342 0.918 267 501 153 122 164 13.47 34849 chr20 15967390 15967390 C T rs41275442 MACROD2 Nonsynonymous SNV T100M 0.21 0.224 0.214 79 246 86 0.203 63 24 11 5 10 14.26 34850 chr9 135102254 135102254 C T rs2149171 NTNG2 Synonymous SNV H292H 0.717 0.706 0.704 264 842 271 0.677 207 298 98 73 91 13.39 34851 chr19 8196508 8196508 G C rs12974280 FBN3 Synonymous SNV S640S 0.418 0.38 0.405 165 491 146 0.423 119 89 28 21 40 2.409 34852 chr20 1610894 1610894 G A rs3746721 SIRPG Synonymous SNV Y163Y 0.311 0.326 0.327 126 365 125 0.323 96 60 17 19 24 0.284 34853 chr9 135105964 135105964 A G rs4962173 NTNG2 Nonsynonymous SNV T346A 0.99 0.997 0.99 387 1162 383 0.992 291 575 191 145 192 7.686 34854 chr20 1610939 1610939 G A rs3746722 SIRPG Synonymous SNV S148S 0.736 0.706 0.718 279 864 271 0.715 211 322 92 83 101 2.931 34855 chr19 57955184 57955184 C G rs149525702 ZNF749 Nonsynonymous SNV P136R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 34856 chr20 1615959 1615959 T C rs9305125 SIRPG Synonymous SNV L345L 0.848 0.815 0.891 327 995 313 0.838 262 423 124 117 138 0.028 34857 chr9 90265015 90265015 C T rs3818584 DAPK1 Synonymous SNV D536D 0.378 0.375 0.344 153 444 144 0.392 101 78 30 12 32 10.94 34858 chr19 7619522 7619522 G A rs522776 PNPLA6 Synonymous SNV S849S 0.032 0.049 0.041 12 38 19 0.031 12 0 0 0 0 Benign/Likely benign 6.434 34859 chr9 135202829 135202829 T C rs543573 SETX Nonsynonymous SNV I1386V 0.796 0.734 0.833 290 934 282 0.744 245 364 100 107 101 Benign 0.001 34860 chr20 1616137 1616137 G A rs6034239 SIRPG Nonsynonymous SNV S286L 0.484 0.451 0.561 185 568 173 0.474 165 139 38 46 45 6.572 34861 chr19 7675369 7675369 C T rs62113420 CAMSAP3 Synonymous SNV C256C 0.153 0.177 0.129 60 180 68 0.154 38 10 7 4 3 10.81 34862 chr19 58790784 58790784 G A rs260502 ZNF8-ERVK3-1 0.164 0.188 0.16 59 193 72 0.151 47 19 9 7 6 8.087 34863 chr19 9071834 9071834 G C rs17000803 MUC16 Synonymous SNV P5204P 0.169 0.177 0.146 70 198 68 0.179 43 13 5 6 6 0.311 34864 chr9 135203231 135203231 C T rs1183768 SETX Nonsynonymous SNV G1252R 0.796 0.734 0.833 290 934 282 0.744 245 364 100 107 101 Benign 17.34 34865 chr20 1616206 1616206 A G rs6043409 SIRPG Nonsynonymous SNV V263A 0.751 0.721 0.765 282 882 277 0.723 225 334 95 85 102 0.004 34866 chr19 9072221 9072221 G A rs66498329 MUC16 Synonymous SNV G5075G 0.167 0.177 0.146 70 196 68 0.179 43 13 5 6 6 8.092 34867 chr9 135203409 135203409 A C rs1185193 SETX Nonsynonymous SNV D1192E 0.814 0.76 0.84 295 956 292 0.756 247 382 109 110 105 Benign 0.002 34868 chr20 1616892 1616892 A G rs2277760 SIRPG Synonymous SNV H230H 0.29 0.294 0.337 112 340 113 0.287 99 55 14 17 17 0.007 34869 chr19 9072346 9072346 C T MUC16 Nonsynonymous SNV V5034M 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 12.13 34870 chr19 58806686 58806686 A G rs17853924 ZNF8 Synonymous SNV Q504Q 0.038 0.044 0.034 15 45 17 0.038 10 0 1 0 0 0.284 34871 chr9 90586220 90586220 C T rs761408768 CDK20 Nonsynonymous SNV G74S 0.007 0.008 0 7 8 3 0.018 0 0 0 0 0 23.1 34872 chr20 1617069 1617069 A G rs2277761 SIRPG Synonymous SNV H171H 0.268 0.271 0.218 97 315 104 0.249 64 43 18 8 15 0.014 34873 chr9 135206460 135206460 A G rs9411449 SETX Synonymous SNV Y359Y 0.797 0.732 0.83 290 936 281 0.744 244 368 101 107 102 Benign 6.365 34874 chr20 1629906 1629906 C T rs6079967 SIRPG Synonymous SNV R74R 0.413 0.398 0.408 168 485 153 0.431 120 99 31 23 37 8.022 34875 chr20 16359567 16359567 A G rs6034464 KIF16B Nonsynonymous SNV M1027T 0.567 0.573 0.599 212 666 220 0.544 176 185 68 59 58 2.401 34876 chr19 9077113 9077113 C A rs760509084 MUC16 Nonsynonymous SNV D3445Y 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 8.676 34877 chr9 135263573 135263573 G T rs556386 TTF1 Synonymous SNV I240I 0.993 0.982 0.993 386 1166 377 0.99 292 579 185 145 191 4.308 34878 chr9 135273607 135273607 C G rs504525 TTF1 Synonymous SNV L51L 0.773 0.724 0.799 291 907 278 0.746 235 349 96 92 110 3.356 34879 chr9 92003679 92003679 C T rs11526468 SEMA4D Nonsynonymous SNV A327T 0.25 0.216 0.238 111 294 83 0.285 70 33 12 7 14 33 34880 chr20 16359650 16359650 C T rs8116503 KIF16B Synonymous SNV K999K 0.144 0.12 0.17 69 169 46 0.177 50 11 4 5 8 11.72 34881 chr19 8436164 8436164 C T rs1044250 ANGPTL4 Nonsynonymous SNV T228M 0.248 0.273 0.265 92 291 105 0.236 78 36 17 10 11 9.957 34882 chr9 135470414 135470414 T C rs306547 DDX31 Nonsynonymous SNV I726V 0.757 0.786 0.731 276 889 302 0.708 215 340 113 78 94 0.009 34883 chr20 16410559 16410559 A T rs34550969 KIF16B Synonymous SNV I457I 0.114 0.107 0.143 50 134 41 0.128 42 9 2 4 4 5.579 34884 chr20 16486698 16486698 G A rs2295115 KIF16B Synonymous SNV L279L 0.298 0.294 0.361 119 350 113 0.305 106 49 20 19 17 14.47 34885 chr20 16493533 16493533 T C rs6135775 KIF16B Synonymous SNV G128G 0.298 0.294 0.361 118 350 113 0.303 106 49 21 19 16 4.963 34886 chr19 52033158 52033158 C T rs35931837 SIGLEC6 Nonsynonymous SNV G226S 0.059 0.076 0.068 33 69 29 0.085 20 3 0 0 0 4.592 34887 chr9 135668127 135668127 G A rs62000443 AK8 Nonsynonymous SNV R294C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 31 34888 chr20 168728 168728 T A rs4813043 DEFB128 Nonsynonymous SNV K27N 0.68 0.695 0.653 272 798 267 0.697 192 282 90 64 97 0.001 34889 chr19 8503345 8503345 G C rs34099346 MARCHF2 Nonsynonymous SNV R149P 0.105 0.115 0.126 36 123 44 0.092 37 4 5 3 1 1.562 34890 chr9 135730257 135730257 T C rs17407084 AK8 Nonsynonymous SNV D130G 0.04 0.044 0.054 25 47 17 0.064 16 1 1 0 0 23.3 34891 chr20 17474968 17474968 T C rs6080718 BFSP1 Synonymous SNV P458P 0.759 0.768 0.745 297 891 295 0.762 219 344 114 81 111 Benign 0.802 34892 chr19 9083427 9083427 A G rs1609453 MUC16 Synonymous SNV A2796A 0.16 0.182 0.136 71 188 70 0.182 40 8 6 4 6 0.15 34893 chr20 17475217 17475217 C T rs6136118 BFSP1 Synonymous SNV A375A 0.252 0.313 0.293 89 296 120 0.228 86 43 22 12 9 Benign 11.99 34894 chr19 9083457 9083457 C T rs17000886 MUC16 Nonsynonymous SNV M2786I 0.158 0.182 0.129 71 186 70 0.182 38 8 6 3 6 9.721 34895 chr20 17477592 17477592 C T rs6080719 BFSP1 Nonsynonymous SNV G220S 0.229 0.273 0.286 78 269 105 0.2 84 46 21 10 9 Benign 0.031 34896 chr9 135753629 135753629 A G rs2231400 AK8 Nonsynonymous SNV I5T 0.044 0.047 0.037 26 52 18 0.067 11 1 1 0 0 0.002 34897 chr9 93641199 93641199 T C rs2306040 SYK Synonymous SNV L492L 0.057 0.063 0.037 20 67 24 0.051 11 2 0 0 2 2.065 34898 chr20 17600357 17600357 G A rs11960 RRBP1 Nonsynonymous SNV S1199L 0.762 0.747 0.731 301 895 287 0.772 215 336 108 79 113 16.01 34899 chr9 135782221 135782221 T C rs7862221 TSC1 Synonymous SNV E394E 0.111 0.12 0.139 49 130 46 0.126 41 12 4 2 4 Benign 10.32 34900 chr19 7975586 7975586 C T rs2303701 MAP2K7 Synonymous SNV D191D 0.026 0.034 0.037 10 31 13 0.026 11 0 0 1 0 10.35 34901 chr20 17605240 17605240 A T rs6034867 RRBP1 Nonsynonymous SNV L1043H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.425 34902 chr9 135974079 135974079 G C rs1062356 RALGDS Synonymous SNV L825L 0.831 0.852 0.84 331 976 327 0.849 247 408 137 102 138 1.783 34903 chr19 58102204 58102205 AA - ZIK1 R240Sfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 34904 chr19 8564466 8564466 C A rs4239540 PRAM1 Nonsynonymous SNV V76F 0.104 0.125 0.163 46 122 48 0.118 48 1 0 3 0 Benign 0.001 34905 chr9 135974100 135974100 G A rs886017 RALGDS Synonymous SNV T818T 0.496 0.49 0.524 204 582 188 0.523 154 139 50 42 55 8.725 34906 chr20 17640009 17640009 A C rs13040917 RRBP1 Nonsynonymous SNV S382A 0.985 0.984 0.976 385 1156 378 0.987 287 578 189 143 192 3.396 34907 chr9 135982088 135982088 A C rs2073822 RALGDS Synonymous SNV S432S 0.322 0.346 0.323 133 378 133 0.341 95 55 23 15 20 0.003 34908 chr19 9085004 9085004 T C rs11085805 MUC16 Nonsynonymous SNV T2271A 0.158 0.182 0.129 71 186 70 0.182 38 8 6 3 6 0.002 34909 chr20 17705677 17705677 A G rs4814640 BANF2 Nonsynonymous SNV N3D 0.971 0.971 0.976 381 1140 373 0.977 287 554 181 141 186 0.004 34910 chr19 8564469 8564469 C G rs4990821 PRAM1 Nonsynonymous SNV E75Q 0.104 0.125 0.163 46 122 48 0.118 48 1 0 3 0 Benign 0.036 34911 chr9 135983504 135983504 T C rs2285375 RALGDS Synonymous SNV A301A 0.341 0.359 0.333 136 400 138 0.349 98 63 25 16 20 0.076 34912 chr19 808562 808562 C T rs199558491 PTBP1 Synonymous SNV N395N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.83 34913 chr9 94985637 94985637 T C rs556155 IARS1 Nonsynonymous SNV K1154E 0.121 0.133 0.136 65 142 51 0.167 40 8 5 2 5 12.51 34914 chr9 136227260 136227260 A G rs12763 SURF2 Nonsynonymous SNV S213G 0.706 0.724 0.748 283 829 278 0.726 220 292 101 83 104 0.012 34915 chr19 9085643 9085643 A G rs1574479 MUC16 Nonsynonymous SNV S2058P 0.158 0.182 0.129 71 185 70 0.182 38 8 6 3 6 1.711 34916 chr20 17716416 17716416 C G rs1053993 BANF2 Nonsynonymous SNV T78S 0.239 0.229 0.207 81 280 88 0.208 61 33 13 8 7 15.55 34917 chr19 8564474 8564474 G T rs4239541 PRAM1 Nonsynonymous SNV P73Q 0.106 0.13 0.177 45 125 50 0.115 52 4 2 4 0 Benign 0.001 34918 chr9 95033835 95033835 A G rs918911350 IARS1 Nonsynonymous SNV F365L 0.011 0.01 0 5 13 4 0.013 0 0 0 0 0 29.7 34919 chr20 17950545 17950545 A T rs11551768 MGME1 Nonsynonymous SNV S15C 0.12 0.138 0.187 53 141 53 0.136 55 7 3 6 3 Benign 16.79 34920 chr9 136268038 136268038 C T rs3124748 STKLD1 Synonymous SNV N457N 0.502 0.549 0.544 206 589 211 0.528 160 149 60 40 50 6.814 34921 chr19 8564523 8564523 T G rs4804305 PRAM1 Nonsynonymous SNV K57Q 0.121 0.154 0.18 47 142 59 0.121 53 18 12 7 4 11.58 34922 chr19 55687427 55687427 C T rs11668445 SYT5 Synonymous SNV K103K 0.011 0.003 0.017 4 13 1 0.01 5 0 0 0 0 15.2 34923 chr9 136268084 136268084 A G rs3124747 STKLD1 Nonsynonymous SNV K473E 0.604 0.563 0.51 225 709 216 0.577 150 228 58 44 61 0.002 34924 chr20 18143117 18143117 T G rs1205193 KAT14 Nonsynonymous SNV V400G 0.981 0.977 0.983 368 1152 375 0.944 289 565 183 142 175 15.35 34925 chr19 9086318 9086318 G A rs4520945 MUC16 Nonsynonymous SNV L1833F 0.158 0.182 0.129 71 186 70 0.182 38 8 6 3 6 2.05 34926 chr19 8606866 8606866 C T rs750553132 MYO1F Nonsynonymous SNV D508N 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 19.96 34927 chr19 5893058 5893058 G A rs12980262 NDUFA11 Nonsynonymous SNV A186V 0.088 0.081 0.126 32 103 31 0.082 37 8 0 1 1 5.223 34928 chr9 136277480 136277480 A G rs2285486 REXO4 Synonymous SNV T146T 0.695 0.734 0.741 278 816 282 0.713 218 282 103 81 100 0.464 34929 chr20 18167977 18167977 T C rs2747404 KAT14 Synonymous SNV P741P 0.983 0.979 0.98 373 1154 376 0.956 288 567 184 141 180 1.81 34930 chr19 8151132 8151132 C G rs144887983 FBN3 Nonsynonymous SNV D2278H 0.026 0.023 0.014 11 30 9 0.028 4 1 0 0 0 Benign 24.3 34931 chr19 9086819 9086819 G A rs1823056 MUC16 Synonymous SNV L1666L 0.158 0.182 0.129 71 186 70 0.182 38 8 6 3 6 0.787 34932 chr9 136291063 136291063 C T rs3118667 ADAMTS13 Synonymous SNV A140A 0.554 0.604 0.605 207 650 232 0.531 178 174 69 54 48 Benign 8.843 34933 chr20 18295861 18295861 G A rs2228274 ZNF133 Synonymous SNV P103P 0.109 0.115 0.116 51 128 44 0.131 34 6 3 1 3 0.196 34934 chr9 95782667 95782667 C T rs11790517 FGD3 Synonymous SNV F436F 0.349 0.279 0.347 154 410 107 0.395 102 67 19 21 29 8.902 34935 chr20 18296072 18296072 T A rs1033545 ZNF133 Nonsynonymous SNV S174T 0.997 0.997 0.99 386 1171 383 0.99 291 584 191 144 191 0.001 34936 chr9 136304497 136304497 A G rs3124768 ADAMTS13 Synonymous SNV T572T 0.472 0.542 0.527 174 554 208 0.446 155 128 53 43 31 0.02 34937 chr9 95784620 95784620 C A rs41273410 FGD3 Synonymous SNV T453T 0.026 0.026 0.027 8 30 10 0.021 8 0 0 0 0 12.48 34938 chr9 136308542 136308542 C T rs3124767 ADAMTS13 Synonymous SNV G760G 0.451 0.536 0.463 173 529 206 0.444 136 125 51 39 34 10.87 34939 chr9 95872885 95872885 C T rs17593496 CARD19 Synonymous SNV L62L 0.188 0.216 0.136 69 221 83 0.177 40 19 11 4 6 13.83 34940 chr19 9087758 9087758 G A rs12611293 MUC16 Nonsynonymous SNV H1353Y 0.159 0.182 0.129 71 187 70 0.182 38 9 6 3 6 0.044 34941 chr20 18296473 18296473 C T rs1050475 ZNF133 Synonymous SNV Y307Y 0.108 0.115 0.116 51 127 44 0.131 34 6 3 1 3 9.208 34942 chr9 136310908 136310908 C T rs685523 ADAMTS13 Nonsynonymous SNV A900V 0.093 0.094 0.095 41 109 36 0.105 28 4 1 2 3 Benign/Likely benign 3.365 34943 chr20 18297193 18297193 T C rs1050476 ZNF133 Synonymous SNV I547I 0.108 0.115 0.119 51 127 44 0.131 35 6 3 1 3 0.032 34944 chr19 58198757 58198757 - AAAGGA ZNF551 Stop gain F344_P642del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34945 chr9 95875381 95875381 G C rs56145587 CARD19 Nonsynonymous SNV G162R 0.086 0.068 0.139 46 101 26 0.118 41 7 2 1 3 16.35 34946 chr19 58198759 58198759 - TTGTCTAA ZNF551 Frameshift insertion R345Lfs*121 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34947 chr20 18361603 18361603 T C rs1883938 LINC00851 0 0 0.806 0 0 0 0 237 0 0 95 0 0.12 34948 chr20 18445963 18445963 A G rs6035051 DZANK1 Synonymous SNV L14L 0.543 0.503 0.585 209 638 193 0.536 172 183 50 53 52 8.158 34949 chr19 58265146 58265146 G C rs35106847 ZNF776 Synonymous SNV P216P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 5.595 34950 chr9 136328657 136328657 T C rs3124765 CACFD1 Synonymous SNV I58I 0.859 0.826 0.799 333 1009 317 0.854 235 429 130 96 142 1.85 34951 chr20 18446005 18446008 TCTC - rs764216920 DZANK1 E8Kfs*2 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34952 chr19 9088330 9088330 G A rs17000947 MUC16 Nonsynonymous SNV T1162I 0.159 0.182 0.129 71 187 70 0.182 38 9 6 3 6 0.696 34953 chr9 136333487 136333487 G A rs3094381 CACFD1 Nonsynonymous SNV A110T 0.141 0.117 0.122 57 165 45 0.146 36 7 2 4 3 10.31 34954 chr20 18446024 18446024 C A rs6111974 DZANK1 0.301 0.302 0.507 109 353 116 0.279 149 118 35 32 34 3.26 34955 chr19 58966644 58966644 A T rs60037165 ZNF324B Synonymous SNV P111P 0.125 0.128 0.099 39 147 49 0.1 29 7 1 2 2 0.002 34956 chr19 52709305 52709305 C T rs144146832 PPP2R1A Nonsynonymous SNV H87Y 0.006 0.013 0.003 2 7 5 0.005 1 0 0 0 0 Benign 12.43 34957 chr20 18462421 18462421 A G rs1055171 POLR3F Synonymous SNV T239T 0.843 0.831 0.823 325 990 319 0.833 242 412 129 98 134 2.984 34958 chr9 95993170 95993170 A G rs7048527 WNK2 Synonymous SNV T285T 0.181 0.203 0.224 77 212 78 0.197 66 17 5 8 7 9.714 34959 chr19 9088772 9088772 T C rs17000950 MUC16 Nonsynonymous SNV R1015G 0.158 0.182 0.129 71 186 70 0.182 38 9 6 3 6 1.303 34960 chr20 18513350 18513350 G A rs41309927 SEC23B Nonsynonymous SNV V426I 0.085 0.057 0.092 30 100 22 0.077 27 4 1 0 0 Benign/Likely benign 19.49 34961 chr9 136337168 136337168 G A rs3094378 SLC2A6 Nonsynonymous SNV T438M 0.117 0.102 0.095 46 137 39 0.118 28 6 1 3 2 23.3 34962 chr19 58983341 58983341 G T rs145882663 ZNF324 Synonymous SNV P494P 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 0.539 34963 chr19 875389 875389 G A rs11546307 MED16 Synonymous SNV T542T 0.25 0.268 0.245 77 293 103 0.197 72 49 18 8 8 11.42 34964 chr20 18513372 18513372 C T rs17807673 SEC23B Nonsynonymous SNV P433L 0.1 0.102 0.071 38 117 39 0.097 21 2 1 0 2 Benign 27.9 34965 chr9 136340200 136340200 T G rs2073935 SLC2A6 Synonymous SNV P270P 0.677 0.674 0.619 257 795 259 0.659 182 261 84 58 87 0.252 34966 chr19 8203328 8203328 G A rs7246376 FBN3 Nonsynonymous SNV P329L 0.25 0.208 0.248 92 293 80 0.236 73 32 8 9 8 6.13 34967 chr9 96052295 96052295 C G rs4744216 WNK2 Synonymous SNV A1634A 0.159 0.195 0.15 62 187 75 0.159 44 21 7 4 8 9.176 34968 chr9 136379890 136379890 A G rs17758315 MYMK Synonymous SNV Y178Y 0.662 0.667 0.636 254 777 256 0.651 187 258 87 64 77 0.009 34969 chr20 18523002 18523002 C G rs2273526 SEC23B Nonsynonymous SNV H489Q 0.144 0.143 0.153 51 169 55 0.131 45 9 1 2 4 Benign 25.3 34970 chr9 136412170 136412170 C T rs2073874 ADAMTSL2 Synonymous SNV D258D 0.888 0.88 0.867 343 1042 338 0.879 255 463 149 109 149 Benign 15.29 34971 chr9 96055063 96055063 C T rs41278286 WNK2 Synonymous SNV D1772D 0.36 0.443 0.418 149 423 170 0.382 123 78 30 26 31 8.236 34972 chr19 59021334 59021334 G A rs143272701 SLC27A5 Synonymous SNV L229L 0.009 0.01 0.003 0 10 4 0 1 0 0 0 0 Uncertain significance 3.72 34973 chr9 136412236 136412236 A T rs2073875 ADAMTSL2 Synonymous SNV A280A 0.888 0.883 0.871 343 1042 339 0.879 256 463 150 110 149 Benign 0.166 34974 chr20 18810705 18810705 C T rs6136530 C20orf78 0.37 0.406 0.378 166 434 156 0.426 111 89 37 18 34 7.658 34975 chr19 59082605 59082605 C T rs3752109 MZF1 Nonsynonymous SNV R51H 0.245 0.253 0.231 89 288 97 0.228 68 29 5 4 7 12.56 34976 chr9 136412255 136412255 A C rs2073876 ADAMTSL2 Synonymous SNV R287R 0.888 0.883 0.871 343 1042 339 0.879 256 463 150 110 149 Benign 0.718 34977 chr20 1895794 1895794 G A rs1135192 SIRPA Synonymous SNV V43V 0.315 0.294 0.303 103 370 113 0.264 89 75 23 17 18 5.265 34978 chr9 136505114 136505114 A G rs1108580 DBH Synonymous SNV E162E 0.505 0.464 0.48 186 593 178 0.477 141 145 43 33 42 Benign 12.94 34979 chr19 8376452 8376454 CTT - rs139352387 NDUFA7 K93del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 34980 chr20 1895796 1895796 T C rs143735290 SIRPA Nonsynonymous SNV L44S 0.318 0.294 0.303 103 373 113 0.264 89 75 23 17 18 0.006 34981 chr19 5915151 5915151 C T rs74174355 CAPS Synonymous SNV D154D 0.09 0.078 0.112 40 106 30 0.103 33 8 0 1 4 15.9 34982 chr19 8389405 8389405 G A rs12981073 KANK3 Synonymous SNV A770A 0.224 0.245 0.207 63 263 94 0.162 61 23 14 4 5 9.087 34983 chr9 136518097 136518097 A G rs77905 DBH Synonymous SNV T470T 0.493 0.563 0.493 204 579 216 0.523 145 147 60 36 60 Benign 0.039 34984 chr9 97321172 97321172 T C rs1543185 PCAT7 0.026 0.023 0.027 20 30 9 0.051 8 0 0 1 0 1.83 34985 chr19 8389893 8389895 TCC - rs111905975 KANK3 E674del 0.224 0.242 0.207 63 263 93 0.162 61 23 13 4 5 34986 chr20 1895797 1895797 G A rs146490405 SIRPA Synonymous SNV L44L 0.313 0.294 0.303 102 368 113 0.262 89 75 23 17 18 0.207 34987 chr9 97325726 97325726 A G rs41281154 FBP2 Synonymous SNV Y241Y 0.023 0.023 0.027 20 27 9 0.051 8 0 0 1 0 4.906 34988 chr9 136536679 136536679 G A rs129932 SARDH Synonymous SNV I768I 0.467 0.5 0.452 209 548 192 0.536 133 122 48 27 57 7.763 34989 chr19 8398006 8398006 C T rs7249069 KANK3 Nonsynonymous SNV E610K 0.121 0.135 0.119 41 142 52 0.105 35 8 6 2 1 23.3 34990 chr20 1895949 1895949 - GT rs148409797 SIRPA Frameshift insertion D95Efs*29 0.345 0.328 0.303 108 405 126 0.277 89 75 24 17 18 34991 chr9 136536793 136536793 C G rs2519123 SARDH Synonymous SNV V730V 0.529 0.544 0.5 224 621 209 0.574 147 156 56 34 64 10.17 34992 chr20 1895951 1895952 CT - rs749337996 SIRPA L96Hfs*14 0.345 0.328 0.303 108 405 126 0.277 89 75 24 17 18 34993 chr20 1895963 1895963 A G rs17855613 SIRPA Nonsynonymous SNV N100D 0.304 0.299 0.31 93 357 115 0.238 91 75 24 17 18 0.004 34994 chr9 136555629 136555629 T C rs886016 SARDH Nonsynonymous SNV M648V 0.468 0.448 0.415 212 550 172 0.544 122 120 35 23 63 4.479 34995 chr19 8399272 8399272 G A rs8106699 KANK3 Synonymous SNV D453D 0.212 0.227 0.201 61 249 87 0.156 59 21 10 3 4 10.78 34996 chr19 9236698 9236698 - ATGGT rs111279560 OR7G3 Frameshift insertion S310Yfs*5 0.292 0.294 0.214 111 343 113 0.285 63 49 24 13 13 34997 chr9 97349733 97349733 G A rs575179961 FBP2 Synonymous SNV S63S 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 14.57 34998 chr20 1895965 1895965 C A rs17855614 SIRPA Nonsynonymous SNV N100K 0.298 0.292 0.306 90 350 112 0.231 90 75 24 17 18 15.29 34999 chr9 136559460 136559460 C T rs2073817 SARDH Nonsynonymous SNV R614H 0.44 0.409 0.245 189 516 157 0.485 72 105 27 18 51 18.13 35000 chr19 844020 844020 G A rs351111 PRTN3 Nonsynonymous SNV V119I 0.426 0.464 0.442 150 500 178 0.385 130 107 43 25 23 0.007 35001 chr20 1895984 1895984 C A rs17855615 SIRPA Nonsynonymous SNV R107S 0.269 0.263 0.31 80 316 101 0.205 91 75 24 17 18 23 35002 chr9 136643994 136643994 T C rs602990 VAV2 Nonsynonymous SNV M584V 0.539 0.542 0.571 195 633 208 0.5 168 165 57 51 51 0.066 35003 chr9 98209594 98209594 G A rs357564 PTCH1 Nonsynonymous SNV P1263L 0.314 0.328 0.333 117 369 126 0.3 98 53 17 19 18 Benign 28.8 35004 chr20 1895990 1895990 G A rs17855616 SIRPA Nonsynonymous SNV G109S 0.281 0.273 0.316 80 330 105 0.205 93 75 24 17 18 9.118 35005 chr19 617466 617466 A G rs151287767 POLRMT Nonsynonymous SNV L1199S 0.009 0.008 0.017 4 10 3 0.01 5 0 0 0 0 Likely benign 0.006 35006 chr9 136907005 136907005 G A rs467387 BRD3 Synonymous SNV P428P 0.298 0.294 0.262 110 350 113 0.282 77 49 22 11 15 10.14 35007 chr19 8987218 8987218 G T rs3764556 MUC16 Nonsynonymous SNV Q13957K 0.306 0.315 0.347 131 359 121 0.336 102 53 15 17 20 17.15 35008 chr20 1896052 1896054 CGA - rs139878822 SIRPA D131del 0.343 0.323 0.316 106 403 124 0.272 93 74 23 17 17 35009 chr9 98691137 98691137 T C rs2274654 ERCC6L2 Nonsynonymous SNV V581A 0.194 0.206 0.146 85 228 79 0.218 43 22 7 2 7 28.1 35010 chr9 136913355 136913355 T C rs464826 BRD3 Synonymous SNV L312L 0.689 0.677 0.66 262 809 260 0.672 194 274 86 65 88 2.216 35011 chr20 1896059 1896059 G A rs115287948 SIRPA Nonsynonymous SNV V132M 0.343 0.323 0.316 106 403 124 0.272 93 74 23 17 17 12.72 35012 chr9 137005023 137005023 C T rs11556390 WDR5 Synonymous SNV P8P 0.436 0.398 0.405 149 512 153 0.382 119 114 29 25 24 13.21 35013 chr19 899444 899444 C T rs2965284 R3HDM4 Synonymous SNV S233S 0.2 0.229 0.207 95 235 88 0.244 61 27 14 7 12 19.22 35014 chr9 98734670 98734670 C T rs3088294 ERCC6L2 Synonymous SNV D890D 0.268 0.286 0.248 107 315 110 0.274 73 43 13 10 14 12.25 35015 chr19 620021 620021 G A rs369479030 POLRMT Synonymous SNV A941A 0.014 0.013 0.007 11 16 5 0.028 2 0 0 0 1 12.19 35016 chr9 137619195 137619195 C T rs3124299 COL5A1 Synonymous SNV T246T 0.45 0.464 0.459 178 528 178 0.456 135 125 38 31 39 Benign 9.024 35017 chr9 98734891 98734891 A T rs3780574 ERCC6L2 Nonsynonymous SNV N964I 0.17 0.174 0.122 74 199 67 0.19 36 16 3 2 4 2.341 35018 chr20 1896060 1896060 T C rs114499682 SIRPA Nonsynonymous SNV V132A 0.343 0.323 0.316 106 403 124 0.272 93 74 23 17 17 10.65 35019 chr19 8556034 8556034 C T rs149261635 PRAM1 Synonymous SNV A528A 0.013 0.021 0.017 4 15 8 0.01 5 0 0 0 0 11.04 35020 chr9 98766861 98766861 G T rs12683634 ERCC6L2 Synonymous SNV P1195P 0.174 0.177 0.122 75 204 68 0.192 36 17 3 2 4 3.926 35021 chr9 137775155 137775155 T C rs4520243 FCN2 Synonymous SNV R36R 0.353 0.406 0.323 173 415 156 0.444 95 82 27 16 40 0.019 35022 chr9 137779026 137779026 C T rs17549193 FCN2 Nonsynonymous SNV T198M 0.318 0.313 0.32 107 373 120 0.274 94 69 17 19 19 21.2 35023 chr9 99150582 99150582 G T rs33944528 ZNF367 Synonymous SNV R330R 0.043 0.044 0.065 11 51 17 0.028 19 1 0 1 1 0.799 35024 chr20 1896100 1896100 C T rs6136375 SIRPA Synonymous SNV R145R 0.372 0.344 0.357 115 437 132 0.295 105 81 24 24 20 4.52 35025 chr9 99180243 99180243 G A rs141683626 ZNF367 Synonymous SNV H24H 0.033 0.034 0.065 10 39 13 0.026 19 1 0 1 1 8.767 35026 chr20 19560664 19560664 G A rs3790261 SLC24A3 Synonymous SNV A123A 0.79 0.781 0.762 305 927 300 0.782 224 363 115 86 117 14.05 35027 chr9 137801800 137801800 T C rs1071583 FCN1 Synonymous SNV Q275Q 0.641 0.615 0.646 237 753 236 0.608 190 249 76 58 74 0.009 35028 chr19 6374890 6374890 G A rs7540 ALKBH7 Nonsynonymous SNV R191Q 0.045 0.049 0.037 19 53 19 0.049 11 0 0 0 1 18.1 35029 chr20 19565671 19565671 G A rs17293432 SLC24A3 Synonymous SNV S160S 0.067 0.068 0.078 23 79 26 0.059 23 1 0 0 0 16.2 35030 chr9 99417018 99417018 T C rs896771498 PRXL2C Nonsynonymous SNV D77G 0.01 0.01 0 6 12 4 0.015 0 0 0 0 0 27.6 35031 chr9 137804360 137804360 A G rs2274845 FCN1 Synonymous SNV N190N 0.626 0.591 0.626 229 735 227 0.587 184 236 67 56 69 0.446 35032 chr20 19634732 19634732 G A rs3790278 SLC24A3 Synonymous SNV L213L 0.611 0.591 0.626 229 717 227 0.587 184 210 67 60 66 10.08 35033 chr9 100070351 100070351 G C rs12683119 CCDC180 Synonymous SNV S46S 0.255 0.281 0.306 111 299 108 0.285 90 42 18 15 16 12.02 35034 chr20 19634747 19634747 T C rs3790279 SLC24A3 Synonymous SNV I218I 0.611 0.591 0.622 229 717 227 0.587 183 210 67 60 66 9.26 35035 chr9 137809685 137809685 C A rs10858293 FCN1 Synonymous SNV G11G 0.378 0.37 0.323 123 444 142 0.315 95 83 30 14 18 7.56 35036 chr19 6375368 6375368 A G rs80336323 PSPN Synonymous SNV D136D 0.043 0.047 0.01 19 51 18 0.049 3 0 0 0 1 0.058 35037 chr19 55945151 55945151 A G SHISA7 Nonsynonymous SNV L330P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.6 35038 chr20 19870235 19870235 C T rs56311184 RIN2 Nonsynonymous SNV S46L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 10.41 35039 chr9 137982127 137982127 T C rs500461 OLFM1 Synonymous SNV A79A 0.888 0.885 0.901 335 1042 340 0.859 265 461 152 119 143 5.056 35040 chr19 8651562 8651562 A G rs4476282 ADAMTS10 Synonymous SNV P248P 0.219 0.216 0.204 64 257 83 0.164 60 23 6 8 2 Benign 0.54 35041 chr9 138236031 138236031 A G rs914398 C9orf62 Synonymous SNV P79P 0.461 0.5 0.493 181 541 192 0.464 145 121 51 34 42 0.056 35042 chr20 19951534 19951534 T A rs3803981 RIN2 Nonsynonymous SNV S197T 0.152 0.135 0.163 50 179 52 0.128 48 17 4 5 3 Benign 7.358 35043 chr19 6389699 6389699 A G rs78293125 MIR6885 0.039 0.049 0.037 18 46 19 0.046 11 0 0 0 1 0.63 35044 chr19 984533 984533 T C rs2301810 WDR18 Synonymous SNV N60N 0.442 0.44 0.415 171 519 169 0.438 122 136 51 26 49 7.71 35045 chr9 138236212 138236212 T G rs914397 C9orf62 Nonsynonymous SNV W140G 0.756 0.771 0.81 305 887 296 0.782 238 349 119 93 118 0.822 35046 chr20 19981463 19981463 G A rs149821491 RIN2 Synonymous SNV K857K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.514 35047 chr19 56028598 56028598 G A SSC5D Synonymous SNV P985P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.293 35048 chr19 984554 984554 C G rs4806884 WDR18 Synonymous SNV L67L 0.359 0.354 0.401 157 421 136 0.403 118 131 49 25 49 10.17 35049 chr20 20257958 20257958 C T rs2424317 CFAP61 Synonymous SNV S884S 0.254 0.242 0.211 108 298 93 0.277 62 37 9 7 14 14.68 35050 chr9 138518010 138518010 A G rs1333240 GLT6D1 Synonymous SNV P54P 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 0.042 35051 chr19 868108 868108 C G rs147510499 MED16 Nonsynonymous SNV R876P 0.02 0.016 0.01 12 23 6 0.031 3 0 0 0 0 7.89 35052 chr19 9869348 9869348 A G rs192422051 ZNF846 Synonymous SNV T6T 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 7.17 35053 chr19 8999497 8999497 - ACCA rs770233746 MUC16 Frameshift insertion P13560Wfs*22 0.445 0.432 0.381 162 522 166 0.415 112 0 0 0 0 35054 chr20 210061 210061 G A rs13045643 DEFB129 Synonymous SNV L67L 0.358 0.365 0.361 142 420 140 0.364 106 65 27 15 34 0.825 35055 chr19 6427408 6427408 G A rs3760750 SLC25A41 Synonymous SNV R243R 0.06 0.063 0.041 25 70 24 0.064 12 0 0 0 3 13.06 35056 chr20 2187943 2187943 G T rs6137325 LOC388780 0.37 0.352 0.408 130 434 135 0.333 120 85 29 26 22 8.729 35057 chr9 100105782 100105782 C G rs2061634 CCDC180 Nonsynonymous SNV S856C 0.244 0.271 0.306 101 286 104 0.259 90 41 17 15 13 16.4 35058 chr9 138586198 138586198 G A rs572335 SOHLH1 Synonymous SNV P327P 0.912 0.927 0.908 360 1071 356 0.923 267 489 164 121 165 1.462 35059 chr20 2187944 2187944 C T rs6137326 LOC388780 0.37 0.352 0.408 130 434 135 0.333 120 85 29 26 22 9.85 35060 chr20 2188163 2188163 C A rs2295571 LOC388780 0.849 0.833 0.82 330 997 320 0.846 241 450 147 103 145 10.16 35061 chr9 138586966 138586966 G A rs3119932 SOHLH1 Nonsynonymous SNV P269S 0.912 0.93 0.898 360 1071 357 0.923 264 489 165 120 165 0.007 35062 chr20 22562674 22562674 T C rs1212275 FOXA2 Synonymous SNV Q402Q 0.888 0.849 0.871 354 1042 326 0.908 256 463 139 110 159 0.002 35063 chr20 2290333 2290333 C A rs214803 TGM3 Nonsynonymous SNV T13K 0.759 0.76 0.776 329 891 292 0.844 228 344 114 91 138 6.309 35064 chr9 138586967 138586967 C A rs3119933 SOHLH1 Synonymous SNV G268G 0.912 0.93 0.898 360 1071 357 0.923 264 489 165 120 165 8.551 35065 chr19 9968139 9968139 G A rs11556087 OLFM2 Nonsynonymous SNV T49M 0.218 0.245 0.241 93 256 94 0.238 71 24 9 8 13 24.5 35066 chr9 100124123 100124123 G A rs143393901 CCDC180 Nonsynonymous SNV R1244H 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 20.8 35067 chr20 23016970 23016970 T G rs3746726 SSTR4 Nonsynonymous SNV F284V 0.487 0.49 0.388 198 572 188 0.508 114 137 48 26 53 17.94 35068 chr9 138590928 138590928 C T rs471525 SOHLH1 Nonsynonymous SNV R37Q 0.907 0.914 0.901 360 1065 351 0.923 265 491 161 122 169 0.019 35069 chr19 648173 648173 G C rs2072104 RNF126 Synonymous SNV S270S 0.059 0.052 0.061 23 69 20 0.059 18 2 3 0 1 1.67 35070 chr19 58991638 58991638 C T rs36095067 ZNF446 Nonsynonymous SNV P300S 0.033 0.031 0.061 12 39 12 0.031 18 1 0 0 2 0.001 35071 chr19 875380 875380 G A rs111940149 MED16 Synonymous SNV C545C 0.023 0.023 0.024 15 27 9 0.038 7 0 0 0 0 12.87 35072 chr20 23017017 23017017 T C rs2567609 SSTR4 Synonymous SNV L299L 0.577 0.565 0.463 227 677 217 0.582 136 187 61 33 70 2.803 35073 chr9 138591266 138591266 A G rs559326 SOHLH1 Synonymous SNV P16P 0.92 0.922 0.915 365 1080 354 0.936 269 499 163 125 172 0.047 35074 chr20 23017044 23017044 C T rs3746728 SSTR4 Synonymous SNV P308P 0.487 0.49 0.388 198 572 188 0.508 114 137 48 26 53 6.726 35075 chr9 138662273 138662273 G A rs17038714 KCNT1 Synonymous SNV A538A 0.171 0.174 0.15 63 201 67 0.162 44 19 4 4 4 Benign 14.59 35076 chr20 23017082 23017082 T C rs2567608 SSTR4 Nonsynonymous SNV F321S 0.577 0.565 0.463 225 677 217 0.577 136 187 61 33 68 0.082 35077 chr9 138669261 138669261 G A rs914428 KCNT1 Synonymous SNV T764T 0.569 0.51 0.575 216 668 196 0.554 169 194 43 53 64 Benign 12.45 35078 chr9 138742077 138742077 C G rs35981196 CAMSAP1 Synonymous SNV P317P 0.126 0.125 0.143 62 148 48 0.159 42 8 1 3 5 10.69 35079 chr20 23065209 23065209 G A rs3746731 CD93 Nonsynonymous SNV P541S 0.685 0.677 0.626 279 804 260 0.715 184 271 88 57 97 9.158 35080 chr9 138838140 138838140 T C rs7028495 UBAC1 Synonymous SNV A173A 0.995 0.997 0.993 386 1168 383 0.99 292 581 191 145 191 0.7 35081 chr1 100546162 100546162 A G rs35170103 MFSD14A Nonsynonymous SNV I405V 0.013 0.021 0 10 15 8 0.026 0 0 0 0 0 15.28 35082 chr19 603832 603832 C T rs56180027 HCN2 Synonymous SNV I307I 0.055 0.055 0.058 29 65 21 0.074 17 4 0 0 1 15.34 35083 chr20 23065342 23065342 A G rs3746732 CD93 Synonymous SNV R496R 0.811 0.807 0.769 322 952 310 0.826 226 383 126 87 133 0.1 35084 chr9 138903671 138903671 A G rs9626 NACC2 Synonymous SNV P485P 0.742 0.703 0.745 270 871 270 0.692 219 320 95 80 95 0.004 35085 chr20 23065352 23065352 G A rs79736225 CD93 Nonsynonymous SNV T493I 0 0 0.02 0 0 0 0 6 0 0 0 0 Benign 0.256 35086 chr9 139137626 139137626 C T rs79849109 QSOX2 Synonymous SNV V8V 0.581 0.643 0.582 232 682 247 0.595 171 228 89 64 81 10.41 35087 chr1 100575933 100575933 G A rs13375867 SASS6 Nonsynonymous SNV A92V 0.284 0.279 0.316 101 333 107 0.259 93 41 15 17 21 18.62 35088 chr9 139235526 139235526 C A rs59873903 GPSM1 Stop gain S428X 0.147 0.141 0.15 68 172 54 0.174 44 11 4 4 7 3.949 35089 chr20 2321105 2321105 G C rs214830 TGM3 Nonsynonymous SNV G654R 0.578 0.596 0.629 242 679 229 0.621 185 192 71 56 69 11.54 35090 chr9 100617021 100617021 C T rs3021526 FOXE1 Synonymous SNV S275S 0.452 0.414 0.255 156 531 159 0.4 75 168 48 26 44 Benign 7.746 35091 chr19 610273 610273 G A rs34397648 HCN2 Synonymous SNV E484E 0.068 0.078 0 38 80 30 0.097 0 3 1 0 2 10.75 35092 chr9 139250186 139250186 C T rs61740929 GPSM1 Synonymous SNV D500D 0.046 0.049 0.037 32 54 19 0.082 11 0 0 1 4 12.08 35093 chr20 23345069 23345069 C T rs6076060 GZF1 Synonymous SNV L17L 0.038 0.034 0.078 21 45 13 0.054 23 0 0 1 0 6.563 35094 chr9 100672338 100672338 C T rs2282192 TRMO Nonsynonymous SNV V178M 0.271 0.234 0.255 93 318 90 0.238 75 36 8 11 9 6.921 35095 chr19 6732316 6732316 C T rs370452204 GPR108 Synonymous SNV S361S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.77 35096 chr20 23345844 23345844 A C rs6048760 GZF1 Nonsynonymous SNV Q275P 0.527 0.471 0.534 213 619 181 0.546 157 161 50 40 59 0.001 35097 chr9 139252495 139252495 G A rs3812547 GPSM1 Synonymous SNV P108P 0.671 0.677 0.697 277 788 260 0.71 205 266 86 70 101 6.685 35098 chr9 139266405 139266405 G A rs10781499 CARD9 Synonymous SNV P42P 0.353 0.333 0.367 131 415 128 0.336 108 77 21 17 19 Benign 13.11 35099 chr9 100819192 100819192 C T rs3739670 NANS Synonymous SNV D34D 0.232 0.229 0.228 86 272 88 0.221 67 40 15 6 13 18.85 35100 chr20 23345950 23345950 G A rs6036393 GZF1 Synonymous SNV G310G 0.038 0.031 0.075 20 45 12 0.051 22 0 0 0 0 0.042 35101 chr9 139266496 139266496 C T rs4077515 CARD9 Nonsynonymous SNV S12N 0.353 0.331 0.364 132 415 127 0.338 107 77 20 17 19 Benign 0.065 35102 chr20 23350790 23350790 C T rs10485644 GZF1 Nonsynonymous SNV T601M 0.066 0.052 0.075 32 78 20 0.082 22 5 0 0 1 9.685 35103 chr9 100823084 100823084 T C rs13049 NANS Synonymous SNV A51A 0.526 0.529 0.493 200 618 203 0.513 145 167 53 39 51 10.69 35104 chr20 23421079 23421079 A G rs7361799 CSTL1 Nonsynonymous SNV T59A 0.038 0.034 0.071 19 45 13 0.049 21 0 0 0 0 14.81 35105 chr19 9000169 9000169 C T MUC16 Nonsynonymous SNV G13530S 0.196 0.195 0.276 80 230 75 0.205 81 0 0 0 0 23.3 35106 chr9 139272058 139272058 A G rs10781507 SNAPC4 Synonymous SNV S1407S 0.353 0.333 0.357 131 414 128 0.336 105 77 21 15 19 Benign 0.04 35107 chr9 100973115 100973115 A C rs150561627 TBC1D2 Nonsynonymous SNV L39R 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Benign 29.2 35108 chr20 23424613 23424613 T C rs3746736 CSTL1 Nonsynonymous SNV W88R 0.549 0.482 0.537 217 645 185 0.556 158 177 52 42 61 0.003 35109 chr9 139272502 139272502 T C rs3812565 SNAPC4 Synonymous SNV L1259L 0.294 0.271 0.299 106 345 104 0.272 88 69 16 13 17 Benign 0.041 35110 chr19 56125579 56125579 G A rs1013767552 ZNF865 Nonsynonymous SNV A199T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.1 35111 chr9 139273402 139273402 C T rs3812567 SNAPC4 Synonymous SNV A959A 0.629 0.651 0.633 232 738 250 0.595 186 238 80 60 74 12.09 35112 chr9 101518831 101518831 T G rs201419783 ANKS6 Nonsynonymous SNV T733P 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 Uncertain significance 24.8 35113 chr19 56156447 56156447 A G rs11084406 ZNF581 Synonymous SNV E170E 0.158 0.154 0.184 65 185 59 0.167 54 10 8 5 6 7.503 35114 chr20 23424660 23424660 G C rs12625959 CSTL1 Synonymous SNV L103L 0.08 0.065 0.085 37 94 25 0.095 25 6 2 0 2 0.102 35115 chr9 139275204 139275204 A C rs3812570 SNAPC4 Synonymous SNV V829V 0.417 0.411 0.412 165 490 158 0.423 121 107 35 21 37 0.003 35116 chr20 23432528 23432528 A G rs2236021 CST11 Synonymous SNV N86N 0.076 0.081 0.099 40 89 31 0.103 29 1 1 1 1 0.002 35117 chr20 23472391 23472391 A G rs2983288 CST8 Synonymous SNV T29T 0.963 0.979 0.949 372 1130 376 0.954 279 545 184 132 177 0.023 35118 chr19 53454543 53454543 G A rs11084210 ZNF816 Nonsynonymous SNV S162L 0.08 0.07 0.099 23 94 27 0.059 29 6 2 4 0 5.317 35119 chr9 139275294 139275294 G C rs3812571 SNAPC4 Nonsynonymous SNV H799Q 0.417 0.411 0.412 166 489 158 0.426 121 106 35 21 37 1.804 35120 chr20 23546639 23546639 T G rs2295564 CST9L Nonsynonymous SNV H109P 0.489 0.432 0.503 208 574 166 0.533 148 144 36 39 54 0.016 35121 chr19 56030250 56030250 G A rs112525800 SSC5D Nonsynonymous SNV G1536E 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 22.8 35122 chr20 23586360 23586360 G A rs2983640 CST9 Nonsynonymous SNV L48F 0.67 0.682 0.673 262 786 262 0.672 198 259 89 68 83 6.176 35123 chr9 139276430 139276430 G A rs34850728 SNAPC4 Synonymous SNV H721H 0.187 0.211 0.16 71 219 81 0.182 47 25 10 4 9 0.068 35124 chr19 632915 632915 G A rs12610885 POLRMT Nonsynonymous SNV P38S 0.14 0.141 0.105 58 164 54 0.149 31 13 7 4 10 0.005 35125 chr19 685833 685833 G T rs56125026 PRSS57 Synonymous SNV P244P 0.047 0.052 0.017 19 55 20 0.049 5 1 0 0 0 4.772 35126 chr9 139277995 139277997 GCT - rs147271628 SNAPC4 S542del 0.225 0.214 0.18 72 264 82 0.185 53 24 6 4 6 35127 chr20 23618395 23618395 T C rs6138024 CST3 Synonymous SNV L35L 1 1 0.983 387 1174 384 0.992 289 587 192 143 192 0.327 35128 chr19 6333476 6333476 G A rs16993553 ACER1 Synonymous SNV Y29Y 0.091 0.073 0.099 30 107 28 0.077 29 6 1 0 3 0.128 35129 chr9 139279173 139279173 G A rs10781510 SNAPC4 Synonymous SNV V473V 0.353 0.331 0.347 130 414 127 0.333 102 76 21 15 18 3.589 35130 chr20 2375262 2375262 A G rs2076405 TGM6 Nonsynonymous SNV M58V 0.931 0.932 0.952 372 1093 358 0.954 280 508 167 133 177 Benign 0.009 35131 chr9 139289825 139289825 A G rs4266763 SNAPC4 Synonymous SNV D132D 0.355 0.336 0.357 131 417 129 0.336 105 80 21 14 18 0.023 35132 chr19 56321295 56321295 G A rs12977654 NLRP11 Synonymous SNV I128I 0.05 0.055 0.044 22 59 21 0.056 13 1 0 0 0 5.074 35133 chr20 238436 238441 TGGTCT - rs371825938 DEFB132 V7_L8del 0.64 0.651 0.633 236 751 250 0.605 186 242 79 62 73 35134 chr9 101778346 101778346 C G rs35529307 COL15A1 Nonsynonymous SNV P531R 0.138 0.135 0.184 53 162 52 0.136 54 9 2 8 3 17.5 35135 chr9 139298593 139298593 A G rs1051957 ENTR1 Synonymous SNV G301G 0.433 0.417 0.432 171 508 160 0.438 127 118 34 27 41 0.021 35136 chr20 23860178 23860178 A G rs1799841 CST5 Nonsynonymous SNV C46R 0.405 0.365 0.357 182 475 140 0.467 105 93 26 22 41 0.001 35137 chr9 139311471 139311471 C T rs3812581 PMPCA Synonymous SNV N103N 0.256 0.253 0.197 83 301 97 0.213 58 33 10 4 6 2.266 35138 chr19 6468040 6468040 C T rs116930831 DENND1C Synonymous SNV S583S 0.03 0.026 0.031 9 35 10 0.023 9 0 0 1 1 12.56 35139 chr20 2398017 2398017 G A rs2295077 TGM6 Synonymous SNV K492K 0.21 0.195 0.15 85 246 75 0.218 44 24 6 2 9 Benign 9.633 35140 chr9 139324737 139324737 C A rs33982662 INPP5E Synonymous SNV G597G 0.232 0.234 0.201 74 272 90 0.19 59 25 8 2 7 Benign 16.89 35141 chr20 2464353 2464353 A G rs73085334 ZNF343 Synonymous SNV F328F 0.029 0.036 0.041 13 34 14 0.033 12 0 0 0 1 6.336 35142 chr19 56373462 56373462 G A rs12462372 NLRP4 Nonsynonymous SNV R708H 0.053 0.031 0.044 18 62 12 0.046 13 0 0 0 0 0.317 35143 chr9 139327034 139327034 A G rs10870194 INPP5E Synonymous SNV C427C 0.422 0.443 0.398 170 496 170 0.436 117 112 40 20 37 Benign 0.139 35144 chr20 24944611 24944611 G A rs145342112 APMAP Synonymous SNV L363L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.14 35145 chr9 102595069 102595069 G A rs41274654 NR4A3 Synonymous SNV Q350Q 0.145 0.18 0.129 52 170 69 0.133 38 9 6 4 3 0.41 35146 chr20 24973247 24973247 C A rs11550623 APMAP Synonymous SNV P26P 0.083 0.081 0.109 39 97 31 0.1 32 4 0 4 3 22.3 35147 chr19 56403487 56403487 C G rs57574126 NLRP13 Nonsynonymous SNV C1029S 0.053 0.089 0.082 25 62 34 0.064 24 2 0 0 1 2.672 35148 chr1 10428570 10428570 G A rs77172218 KIF1B Nonsynonymous SNV V1554M 0.013 0.008 0.003 2 15 3 0.005 1 0 0 0 0 Benign 22.8 35149 chr9 139327439 139327439 A G rs10781542 INPP5E Synonymous SNV T416T 0.424 0.44 0.398 166 498 169 0.426 117 114 40 20 35 Benign 8.509 35150 chr9 139368953 139368953 G A rs3812594 SEC16A Nonsynonymous SNV R1039C 0.247 0.258 0.207 81 290 99 0.208 61 32 12 2 7 21.8 35151 chr19 56416409 56416409 G A rs28506091 NLRP13 Synonymous SNV H839H 0.101 0.122 0.129 51 119 47 0.131 38 5 1 2 6 0.521 35152 chr20 24994275 24994275 G A rs6115001 ACSS1 Synonymous SNV N371N 0.085 0.078 0.112 39 100 30 0.1 33 4 0 4 3 10.38 35153 chr9 103064530 103064530 G A rs7472 TEX10 Synonymous SNV F895F 0.386 0.417 0.456 143 453 160 0.367 134 86 36 26 30 13.04 35154 chr20 25000734 25000734 G A rs6115003 ACSS1 Synonymous SNV G265G 0.09 0.081 0.119 40 106 31 0.103 35 4 0 4 3 8.82 35155 chr1 10511544 10511544 C T rs628462 CENPS-CORT, CORT Synonymous SNV A70A 0.4 0.362 0.439 150 470 139 0.385 129 100 28 29 25 12.68 35156 chr20 25011423 25011423 T C rs6050259 ACSS1 Synonymous SNV A80A 0.31 0.31 0.32 120 364 119 0.308 94 57 20 15 17 0.397 35157 chr9 139369062 139369062 C T rs3812595 SEC16A Synonymous SNV L1002L 0.246 0.258 0.207 81 289 99 0.208 61 31 12 2 7 9.206 35158 chr20 25038484 25038484 G T rs66817095 ACSS1 Synonymous SNV T85T 0.162 0.164 0.163 61 190 63 0.156 48 23 6 3 5 11.81 35159 chr9 104130469 104130469 C G rs41281027 BAAT Nonsynonymous SNV R201P 0.147 0.172 0.139 72 172 66 0.185 41 10 5 0 5 Benign 10.57 35160 chr9 139370955 139370963 AGCTCCTGA - rs545335424 SEC16A S369_A371del 0.009 0.01 0.007 1 10 4 0.003 2 0 0 0 0 35161 chr20 25059442 25059442 C T rs6138482 VSX1 Nonsynonymous SNV R217H 0.191 0.201 0.197 76 224 77 0.195 58 28 6 6 8 1.43 35162 chr9 139371342 139371342 G A rs11999525 SEC16A Synonymous SNV P242P 0.227 0.24 0.197 67 267 92 0.172 58 30 11 2 6 0.715 35163 chr19 9008342 9008342 A G rs796829441 MUC16 Synonymous SNV S13070S 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 0.035 35164 chr19 6710782 6710782 G T rs2230203 C3 Synonymous SNV P518P 0.149 0.146 0.156 65 175 56 0.167 46 19 6 5 4 Benign 0.039 35165 chr20 25187213 25187213 G A rs2076559 ENTPD6 Nonsynonymous SNV S14N 0.268 0.302 0.306 108 315 116 0.277 90 37 20 14 8 9.256 35166 chr9 139371405 139371405 G C rs11999532 SEC16A Synonymous SNV G221G 0.248 0.258 0.207 81 291 99 0.208 61 32 12 2 7 0.53 35167 chr19 9008344 9008344 A G rs201969086 MUC16 Nonsynonymous SNV S13070P 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 0.014 35168 chr19 6713262 6713262 G A rs1047286 C3 Nonsynonymous SNV P314L 0.17 0.18 0.18 72 200 69 0.185 53 22 8 6 8 Benign 6.844 35169 chr9 139371786 139371786 A C rs6560632 SEC16A Synonymous SNV V94V 0.425 0.451 0.398 174 499 173 0.446 117 112 41 20 41 0.019 35170 chr20 25193949 25193949 G A rs2076561 ENTPD6 Synonymous SNV P151P 0.271 0.305 0.306 105 318 117 0.269 90 39 20 14 6 2.366 35171 chr9 139564668 139564668 G A rs2297538 EGFL7 Nonsynonymous SNV V153I 0.226 0.24 0.204 102 265 92 0.262 60 30 7 9 14 10.7 35172 chr20 25195509 25195509 A G rs6050446 ENTPD6 Nonsynonymous SNV K137E 0.991 1 0.983 385 1164 384 0.987 289 577 192 142 190 1.969 35173 chr19 6718387 6718387 G C rs2230199 C3 Nonsynonymous SNV R102G 0.189 0.208 0.19 73 222 80 0.187 56 24 8 6 8 Benign 0.965 35174 chr1 109242056 109242056 G A rs111751551 PRPF38B Nonsynonymous SNV R207K 0.012 0.005 0.01 5 14 2 0.013 3 0 0 0 0 Benign 14.75 35175 chr20 25260931 25260931 A G rs2227890 PYGB Synonymous SNV A374A 0.354 0.401 0.401 128 416 154 0.328 118 86 30 23 21 6.201 35176 chr9 139581758 139581758 - CAG rs768646064 AGPAT2 L17_V18insL 0.119 0.12 0.068 70 140 46 0.179 20 8 6 0 9 35177 chr19 53740289 53740290 CT - rs773580660 ZNF677 S564Lfs*2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35178 chr9 104161450 104161450 G A rs61755098 ZNF189 Synonymous SNV P4P 0.072 0.07 0.068 32 85 27 0.082 20 2 0 1 1 13.66 35179 chr20 25264814 25264814 T C rs2227892 PYGB Synonymous SNV D565D 0.354 0.401 0.401 128 416 154 0.328 118 86 30 23 21 0.275 35180 chr9 139616742 139616742 A G rs945384 DIPK1B Nonsynonymous SNV S158G 0.927 0.935 0.922 366 1088 359 0.938 271 504 167 125 171 16.46 35181 chr19 9025654 9025654 T G rs201931630 MUC16 Nonsynonymous SNV K12267T 0.042 0.036 0.014 18 49 14 0.046 4 0 0 0 0 0.002 35182 chr20 25282944 25282944 A G rs10966 ABHD12 Synonymous SNV D356D 0.361 0.417 0.408 126 424 160 0.323 120 89 33 24 20 Benign 6.631 35183 chr9 104170350 104170350 A G rs1047968 ZNF189 Synonymous SNV T86T 0.125 0.115 0.092 47 147 44 0.121 27 8 2 0 3 0.116 35184 chr19 56127441 56127441 C G rs146619376 ZNF865 Synonymous SNV T819T 0.045 0.042 0.034 23 53 16 0.059 10 2 0 0 0 4.317 35185 chr1 109261509 109261509 A G rs17553619 FNDC7 Nonsynonymous SNV I146V 0.053 0.063 0.054 27 62 24 0.069 16 0 0 0 0 11.24 35186 chr20 2539387 2539387 G A rs6050063 TMC2 Nonsynonymous SNV R123K 0.58 0.586 0.554 242 681 225 0.621 163 200 64 39 79 0.308 35187 chr9 139634495 139634495 G A rs9886752 LCN10 Stop gain Q148X 0.193 0.154 0.143 69 227 59 0.177 42 17 3 6 6 35 35188 chr20 25456888 25456888 A G rs437635 NINL Synonymous SNV S1013S 0.359 0.396 0.405 127 421 152 0.326 119 87 28 23 20 0.008 35189 chr20 25457050 25457055 CTCCCA - rs34410422 NINL W958_E959del 0.359 0.393 0.395 127 421 151 0.326 116 87 28 23 20 35190 chr19 6755043 6755043 G A rs145201987 SH2D3A Synonymous SNV A260A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.383 35191 chr9 139635430 139635430 C T rs7848807 LCN10 Synonymous SNV P98P 0.191 0.154 0.143 69 224 59 0.177 42 16 3 6 6 5.178 35192 chr19 7184518 7184518 G A rs891087 INSR Synonymous SNV D261D 0.081 0.107 0.129 28 95 41 0.072 38 3 2 4 3 Benign 10.59 35193 chr20 2559795 2559795 T C rs34884202 TMC2 Nonsynonymous SNV W217R 0.049 0.049 0.058 26 57 19 0.067 17 0 0 1 2 23.4 35194 chr9 139635747 139635747 G A rs768053309 LCN10 Synonymous SNV N108N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.429 35195 chr19 53761775 53761775 C T rs112910446 VN1R2 Synonymous SNV R49R 0.036 0.018 0.044 13 42 7 0.033 13 1 0 2 2 11.24 35196 chr20 256727 256727 T A rs3827147 C20orf96 Nonsynonymous SNV I304F 0.566 0.609 0.514 214 664 234 0.549 151 194 74 42 55 0.131 35197 chr9 139642961 139642961 G A rs2811728 LOC100128593 0.421 0.477 0.469 175 494 183 0.449 138 106 40 34 37 4.836 35198 chr9 139649612 139649612 C A rs2282258 LCN8 Nonsynonymous SNV G164V 0.129 0.096 0.122 57 152 37 0.146 36 14 2 4 4 23.7 35199 chr20 257733 257733 A G rs2277781 C20orf96 Synonymous SNV S258S 0.58 0.638 0.534 218 681 245 0.559 157 212 81 46 60 0.227 35200 chr20 2591232 2591232 C T rs6050576 TMC2 Synonymous SNV D527D 0.259 0.273 0.279 98 304 105 0.251 82 37 14 14 14 12.95 35201 chr9 139656670 139656670 T C rs2297722 LCN15 Nonsynonymous SNV K164E 0.765 0.773 0.721 318 898 297 0.815 212 352 123 85 132 0.014 35202 chr1 109366286 109366286 C T rs7522157 AKNAD1 Nonsynonymous SNV C654Y 0.28 0.258 0.231 103 329 99 0.264 68 46 9 9 14 1.083 35203 chr20 2593863 2593863 T C rs6515646 TMC2 Synonymous SNV S589S 0.273 0.284 0.289 100 320 109 0.256 85 42 14 15 15 0.62 35204 chr20 259818 259818 G A rs6035541 C20orf96 Synonymous SNV L153L 0.342 0.333 0.347 131 401 128 0.336 102 69 23 19 20 5.171 35205 chr19 6837061 6837061 T C rs112350637 VAV1 Synonymous SNV H628H 0.016 0.005 0.017 10 19 2 0.026 5 0 0 0 0 Benign 1.594 35206 chr9 139656706 139656706 A C rs2297723 LCN15 Nonsynonymous SNV S152A 0.779 0.789 0.779 321 914 303 0.823 229 352 123 90 132 0.091 35207 chr20 259969 259969 G C rs7271033 C20orf96 Synonymous SNV T102T 0.498 0.516 0.456 194 585 198 0.497 134 153 51 34 45 2.108 35208 chr20 2618140 2618140 T C rs6083915 TMC2 Synonymous SNV S802S 0.773 0.76 0.769 314 908 292 0.805 226 347 112 89 127 6.877 35209 chr20 2633936 2633936 T C rs2073194 NOP56 Synonymous SNV S35S 0.855 0.857 0.806 341 1004 329 0.874 237 427 140 94 150 Likely benign 6.526 35210 chr1 109394978 109394978 G A rs17563390 AKNAD1 Synonymous SNV D103D 0.136 0.133 0.099 54 160 51 0.138 29 10 3 1 3 1.175 35211 chr9 139657834 139657834 G C rs9987876 LCN15 Synonymous SNV A131A 0.775 0.784 0.779 322 910 301 0.826 229 349 123 89 133 11.11 35212 chr20 2637071 2637071 T C rs8958 NOP56 Synonymous SNV T345T 0.615 0.617 0.633 261 722 237 0.669 186 218 77 60 87 Likely benign 0.055 35213 chr19 9057468 9057468 T A rs78494460 MUC16 Nonsynonymous SNV H9993L 0.012 0.005 0.007 1 14 2 0.003 2 0 0 0 0 2.969 35214 chr9 106896809 106896809 G A rs7872034 SMC2 Synonymous SNV L1074L 0.582 0.633 0.605 250 683 243 0.641 178 197 77 52 82 10.81 35215 chr9 139693596 139693596 T C rs945386 CCDC183 Nonsynonymous SNV M38T 0.29 0.279 0.238 102 340 107 0.262 70 55 18 9 14 0.005 35216 chr20 2732902 2732902 C G rs2235813 EBF4 Synonymous SNV P444P 0.155 0.174 0.146 69 182 67 0.177 43 23 11 7 12 14.67 35217 chr19 9003659 9003659 G C rs754397381 MUC16 Synonymous SNV L13327L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 1.411 35218 chr20 2739583 2739583 T C rs2073125 EBF4 Synonymous SNV F585F 0.252 0.271 0.265 99 296 104 0.254 78 32 14 12 12 4.258 35219 chr9 139694521 139694521 T G rs4546744 CCDC183 Nonsynonymous SNV L113R 0.289 0.279 0.238 103 339 107 0.264 70 55 18 9 14 25.8 35220 chr20 278688 278690 CGG - rs11468351 ZCCHC3 A159del 0.936 0.893 0.922 365 1099 343 0.936 271 527 160 127 173 35221 chr19 56369908 56369908 G C rs17857373 NLRP4 Nonsynonymous SNV E383D 0.04 0.049 0.031 14 47 19 0.036 9 2 0 0 0 0.005 35222 chr20 278806 278806 C T rs1057189 ZCCHC3 Synonymous SNV S193S 0.216 0.198 0.16 74 253 76 0.19 47 23 7 3 5 10.29 35223 chr9 139694569 139694569 A C rs7859194 CCDC183 Nonsynonymous SNV D129A 0.286 0.273 0.228 102 336 105 0.262 67 55 18 9 14 8.339 35224 chr20 2797015 2797015 G A rs215561 TMEM239 Nonsynonymous SNV R12H 0.547 0.555 0.561 225 642 213 0.577 165 183 58 51 66 0.209 35225 chr19 7542118 7542118 G A rs7256275 PEX11G Synonymous SNV A171A 0.1 0.107 0.109 45 117 41 0.115 32 7 3 0 4 5.749 35226 chr20 2840773 2840773 C T rs3818605 VPS16 Synonymous SNV S72S 0.14 0.154 0.19 57 164 59 0.146 56 8 1 7 5 14.68 35227 chr9 139699964 139699964 T C rs2811793 CCDC183-AS1 0.734 0.753 0.789 295 862 289 0.756 232 330 110 94 109 0.72 35228 chr20 2996497 2996497 C T rs1178016 PTPRA Synonymous SNV G294G 0.468 0.479 0.452 191 549 184 0.49 133 137 51 36 51 15.58 35229 chr19 7547074 7547074 A C rs2303146 PEX11G Nonsynonymous SNV C91W 0.325 0.313 0.296 126 381 120 0.323 87 61 17 11 18 0.021 35230 chr9 139700605 139700605 T C rs2811795 CCDC183 Nonsynonymous SNV W342R 0.727 0.747 0.765 292 853 287 0.749 225 330 110 94 109 10.73 35231 chr19 9011412 9011412 C T rs114676657 MUC16 Nonsynonymous SNV E12941K 0.02 0.034 0.027 18 24 13 0.046 8 0 0 0 1 22.9 35232 chr20 30064331 30064331 A G rs1006459 REM1 Nonsynonymous SNV H28R 0.361 0.344 0.354 122 424 132 0.313 104 84 21 24 17 2.978 35233 chr19 7550844 7550844 G A rs34970001 PEX11G Synonymous SNV S43S 0.285 0.255 0.276 104 335 98 0.267 81 51 10 8 13 6.877 35234 chr19 7125519 7125519 G A rs1799815 INSR Synonymous SNV Y999Y 0.095 0.07 0.082 35 112 27 0.09 24 10 3 1 0 Benign 9.905 35235 chr9 139701108 139701108 A C rs2254143 CCDC183 Nonsynonymous SNV N421T 0.737 0.755 0.789 296 865 290 0.759 232 330 110 94 110 5.667 35236 chr19 56658374 56658374 C T rs199638195 ZNF444 Nonsynonymous SNV P32S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 8.57 35237 chr20 30193377 30193377 A G rs1802548 ID1 Nonsynonymous SNV N63D 0.03 0.029 0.044 15 35 11 0.038 13 0 0 1 0 17.13 35238 chr9 139726239 139726239 A G rs2811748 RABL6 Synonymous SNV G175G 0.839 0.857 0.85 329 985 329 0.844 250 418 142 106 140 9.246 35239 chr20 30193538 30193538 A G rs15817 ID1 Synonymous SNV G116G 0.155 0.151 0.167 65 182 58 0.167 49 17 4 3 7 0.454 35240 chr20 3025107 3025107 C T rs6051545 GNRH2 Nonsynonymous SNV A16V 0.144 0.143 0.228 53 169 55 0.136 67 12 2 8 5 17.59 35241 chr9 107456892 107456892 C G rs13294411 OR13D1 Nonsynonymous SNV L64V 0.101 0.089 0.105 37 119 34 0.095 31 4 1 0 1 23.5 35242 chr9 139748483 139748483 G A rs45449193 MAMDC4 Nonsynonymous SNV A209T 0.058 0.073 0.065 36 68 28 0.092 19 0 0 0 4 0.008 35243 chr20 3026345 3026345 - GCCCC rs16996832 GNRH2 Frameshift insertion S116Rfs*11 0.075 0.078 0.197 25 88 30 0.064 58 8 2 6 1 35244 chr9 107456933 107456933 C T rs12347076 OR13D1 Synonymous SNV L77L 0.189 0.201 0.173 78 222 77 0.2 51 16 9 5 5 9.758 35245 chr20 30381758 30381758 G C rs1062794 TPX2 Synonymous SNV S539S 0.265 0.276 0.245 110 311 106 0.282 72 39 17 11 17 11.24 35246 chr9 139749067 139749067 C T rs7869864 MAMDC4 Synonymous SNV R291R 0.762 0.76 0.765 316 895 292 0.81 225 345 113 85 131 13.24 35247 chr20 30382315 30382315 A G rs3203770 TPX2 Synonymous SNV R599R 0.163 0.159 0.177 70 191 61 0.179 52 17 8 3 8 1.737 35248 chr9 139752899 139752899 T G rs2275156 MAMDC4 Nonsynonymous SNV W908G 0.755 0.758 0.755 311 886 291 0.797 222 337 112 83 126 23 35249 chr20 30449325 30449325 C G rs947310 DUSP15 Nonsynonymous SNV V94L 0.266 0.25 0.367 114 312 96 0.292 108 69 23 28 24 16.33 35250 chr1 109793319 109793319 C T rs41279700 CELSR2 Synonymous SNV I206I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 13.22 35251 chr20 30527065 30527065 T C rs6061043 TTLL9 Synonymous SNV H315H 0.433 0.451 0.49 188 508 173 0.482 144 120 40 37 42 0.077 35252 chr19 56549510 56549510 T C rs16986899 NLRP5 Nonsynonymous SNV M912T 0.173 0.185 0.228 70 203 71 0.179 67 15 7 6 6 0.004 35253 chr9 139835802 139835802 A G rs138273782 FBXW5 Nonsynonymous SNV M453T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 35254 chr20 30602775 30602775 C T rs112249840 CCM2L Synonymous SNV S33S 0.052 0.078 0.092 34 61 30 0.087 27 0 1 0 0 14.27 35255 chr20 30729619 30729619 G A rs117822199 TM9SF4 Nonsynonymous SNV R133Q 0.015 0.013 0.017 7 18 5 0.018 5 0 0 0 0 18.97 35256 chr9 107457725 107457725 G A rs12338899 OR13D1 Synonymous SNV L341L 0.188 0.201 0.173 78 221 77 0.2 51 16 9 5 5 0.128 35257 chr9 139840543 139840543 A G rs7850844 C8G Nonsynonymous SNV D118G 0.951 0.958 0.973 374 1117 368 0.959 286 531 176 139 180 2.38 35258 chr20 3090848 3090848 T G rs708973 UBOX5 Nonsynonymous SNV T509P 0.327 0.375 0.327 127 384 144 0.326 96 75 29 17 23 9.028 35259 chr20 31022959 31022959 T C rs6058694 ASXL1 Nonsynonymous SNV L754P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 not provided 0.089 35260 chr9 107531152 107531152 G C rs10761084 NIPSNAP3B Nonsynonymous SNV A94P 0.176 0.177 0.139 65 207 68 0.167 41 13 6 3 5 28.1 35261 chr9 139840560 139840560 C A rs17613 C8G Nonsynonymous SNV H124N 0.136 0.135 0.119 54 160 52 0.138 35 8 4 1 8 3.085 35262 chr19 9049726 9049726 G A rs11670328 MUC16 Synonymous SNV D10635D 0.263 0.253 0.276 94 309 97 0.241 81 37 10 14 13 7.043 35263 chr9 107533175 107533175 C G rs3739741 NIPSNAP3B Nonsynonymous SNV A159G 0.175 0.185 0.15 65 205 71 0.167 44 13 6 3 5 27.1 35264 chr19 7605566 7605566 C T rs591040 PNPLA6 Synonymous SNV N255N 0.069 0.073 0.051 26 81 28 0.067 15 3 1 0 0 Benign 14.73 35265 chr9 139840580 139840580 C T rs20574 C8G Synonymous SNV T130T 0.136 0.135 0.119 54 160 52 0.138 35 8 4 1 8 9.858 35266 chr20 31189411 31189411 A G rs2029086 NOL4L-DT 0 0 0.714 0 0 0 0 210 0 0 75 0 4.983 35267 chr20 31386347 31386347 T C rs6058891 DNMT3B Synonymous SNV C428C 0.381 0.367 0.415 134 447 141 0.344 122 83 30 24 21 Benign 7.165 35268 chr9 139848688 139848688 C T rs4880175 LCN12 Synonymous SNV I177I 0.71 0.724 0.752 282 833 278 0.723 221 284 103 84 103 12.51 35269 chr1 109823537 109823537 G A rs76057315 PSRC1 Nonsynonymous SNV P240S 0.014 0.01 0.014 8 17 4 0.021 4 0 0 0 0 28 35270 chr9 107556793 107556793 - A rs377469216 ABCA1 0.026 0.029 0.041 13 30 11 0.033 12 2 2 4 1 35271 chr19 9068103 9068103 T C rs753967034 MUC16 Nonsynonymous SNV Q6448R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 35272 chr20 31386449 31386449 T C rs2424922 DNMT3B Synonymous SNV Y462Y 0.381 0.365 0.412 134 447 140 0.344 121 84 29 23 21 Benign 0.288 35273 chr19 9056982 9056982 G A rs11670318 MUC16 Nonsynonymous SNV T10155I 0.262 0.253 0.276 94 308 97 0.241 81 36 10 14 13 1.347 35274 chr9 107579632 107579632 C G rs33918808 ABCA1 Nonsynonymous SNV E1172D 0.041 0.021 0.037 14 48 8 0.036 11 0 0 1 0 Benign 13.58 35275 chr20 31427635 31427635 C T rs2070090 MAPRE1 Synonymous SNV D190D 0.187 0.164 0.19 63 220 63 0.162 56 22 5 6 4 18.56 35276 chr19 7809079 7809079 T C rs17159887 CD209 Synonymous SNV R173R 0.008 0.021 0.01 5 9 8 0.013 3 0 0 0 0 0.011 35277 chr9 139872048 139872048 A G rs4880179 PTGDS Synonymous SNV T6T 0.951 0.966 0.983 379 1117 371 0.972 289 532 179 142 184 0.012 35278 chr20 31466528 31466528 A G EFCAB8 Nonsynonymous SNV M116V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.548 35279 chr20 3147468 3147468 G A rs17853865 LZTS3 Synonymous SNV N114N 0.197 0.201 0.17 84 231 77 0.215 50 23 4 3 6 9.486 35280 chr9 107593333 107593333 C T rs200928212 ABCA1 Nonsynonymous SNV V589I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.103 35281 chr9 139879170 139879170 G A rs17578859 LCNL1 Nonsynonymous SNV A68T 0.216 0.214 0.241 81 254 82 0.208 71 17 7 7 8 21.7 35282 chr20 3147762 3147762 A G rs6051612 LZTS3 Synonymous SNV D16D 0.99 0.971 0.993 382 1162 373 0.979 292 575 181 145 187 1.805 35283 chr19 54652265 54652265 C T rs181910878 CNOT3 Nonsynonymous SNV A426V 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 22.1 35284 chr20 31494382 31494382 G A rs6120033 EFCAB8 Nonsynonymous SNV R368H 0.759 0.753 0.752 313 891 289 0.803 221 334 106 85 124 12.01 35285 chr9 107602678 107602678 G A rs2274873 ABCA1 Synonymous SNV P312P 0.094 0.117 0.102 37 110 45 0.095 30 6 2 2 4 Benign 13.89 35286 chr9 139904037 139904037 A G rs7048567 ABCA2 Synonymous SNV L2230L 0.72 0.732 0.714 302 845 281 0.774 210 289 102 74 118 7.529 35287 chr20 31505292 31505292 C T rs13037781 EFCAB8 Nonsynonymous SNV S681L 0.74 0.703 0.697 301 869 270 0.772 205 314 93 75 113 9.726 35288 chr9 107620867 107620867 C T rs2230806 ABCA1 Nonsynonymous SNV R219K 0.313 0.365 0.33 140 368 140 0.359 97 56 24 14 26 Benign 2.25 35289 chr9 139906359 139906359 G A rs2271862 ABCA2 Synonymous SNV H1824H 0.716 0.724 0.697 303 841 278 0.777 205 291 99 70 120 0.118 35290 chr20 31590439 31590439 G A rs34427973 SUN5 Synonymous SNV N55N 0.026 0.008 0.024 18 31 3 0.046 7 0 0 0 0 0.644 35291 chr20 31609581 31609581 C T rs17124003 BPIFB2 Synonymous SNV V437V 0.318 0.323 0.32 130 373 124 0.333 94 58 18 17 23 12.72 35292 chr9 139912484 139912484 A G rs908832 ABCA2 Synonymous SNV D679D 0.968 0.974 0.969 379 1137 374 0.972 285 550 182 138 184 0.007 35293 chr9 107624029 107624029 C T rs2230805 ABCA1 Synonymous SNV L158L 0.289 0.339 0.327 124 339 130 0.318 96 46 19 14 20 Benign 12.89 35294 chr20 31671209 31671209 G C rs13036385 BPIFB4 Nonsynonymous SNV R69P 0.259 0.266 0.279 94 304 102 0.241 82 36 9 12 11 23.9 35295 chr9 139913239 139913239 T G rs908828 ABCA2 Nonsynonymous SNV H584P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.78 35296 chr9 108147763 108147763 T G rs3199966 SLC44A1 Nonsynonymous SNV S644A 0.095 0.107 0.099 37 112 41 0.095 29 11 2 3 3 13.47 35297 chr19 7963949 7963949 A G rs2042919 LRRC8E Nonsynonymous SNV E52G 0.193 0.232 0.173 72 227 89 0.185 51 21 8 6 4 0.02 35298 chr20 31671575 31671575 T G rs144272671 BPIFB4 Nonsynonymous SNV L191R 0.005 0.013 0.01 9 6 5 0.023 3 0 0 0 0 24.4 35299 chr9 139923265 139923265 A G rs4880189 ABCA2 Synonymous SNV A20A 0.752 0.74 0.68 298 883 284 0.764 200 330 104 72 113 6.503 35300 chr9 108230545 108230545 A G rs61996265 FSD1L Synonymous SNV V61V 0.021 0.023 0.01 14 25 9 0.036 3 0 0 0 1 10.62 35301 chr19 7963976 7963976 T C rs2115108 LRRC8E Nonsynonymous SNV M61T 0.247 0.292 0.224 90 290 112 0.231 66 35 17 7 8 0.001 35302 chr20 31671599 31671599 A G rs4339026 BPIFB4 Nonsynonymous SNV D199G 0.253 0.258 0.269 93 297 99 0.238 79 36 9 11 11 18.7 35303 chr9 139943112 139943112 A G rs17853460 ENTPD2 Synonymous SNV I472I 0.194 0.211 0.276 78 228 81 0.2 81 24 9 13 10 0.129 35304 chr9 108366734 108366734 G A rs34787999 FKTN Nonsynonymous SNV R203Q 0.262 0.237 0.248 73 308 91 0.187 73 36 11 9 7 Benign/Likely benign 23.3 35305 chr9 139945363 139945363 G A rs2292925 ENTPD2 Synonymous SNV S255S 0.207 0.224 0.245 77 243 86 0.197 72 22 8 13 9 8.867 35306 chr19 57085783 57085783 T C rs145150598 ZNF470 Synonymous SNV D27D 0.026 0.013 0.02 12 30 5 0.031 6 0 0 0 0 4.325 35307 chr20 31671663 31671663 T C rs2424945 BPIFB4 Synonymous SNV T220T 0.33 0.344 0.384 122 388 132 0.313 113 72 23 22 21 4.149 35308 chr1 110211956 110211956 C T rs592792 GSTM2 Synonymous SNV N74N 0.112 0.109 0.136 51 131 42 0.131 40 8 3 2 2 18.48 35309 chr19 7964727 7964727 G A rs3745382 LRRC8E Synonymous SNV E311E 0.189 0.224 0.167 71 222 86 0.182 49 21 8 6 4 0.014 35310 chr20 31678534 31678534 T C rs2070326 BPIFB4 Synonymous SNV L358L 0.276 0.266 0.279 103 324 102 0.264 82 44 10 12 17 5.253 35311 chr9 139973820 139973820 C T rs7037849 UAP1L1 Nonsynonymous SNV A319V 0.375 0.385 0.323 147 440 148 0.377 95 83 26 15 27 12.5 35312 chr9 108380355 108380355 C A rs17309806 FKTN Synonymous SNV L342L 0.249 0.224 0.245 70 292 86 0.179 72 38 11 9 7 Benign/Likely benign 16.32 35313 chr20 31688241 31688241 T C rs11699009 BPIFB4 Nonsynonymous SNV F527L 0.665 0.682 0.66 255 781 262 0.654 194 262 88 65 83 10.08 35314 chr19 9072875 9072875 G A rs73009098 MUC16 Synonymous SNV V4857V 0.119 0.115 0.088 42 140 44 0.108 26 8 4 1 1 5.927 35315 chr9 109687403 109687403 A G rs17723637 ZNF462 Nonsynonymous SNV M404V 0.166 0.154 0.167 73 195 59 0.187 49 21 2 6 6 0.657 35316 chr19 7623941 7623941 G A rs112133109 PNPLA6 Synonymous SNV Q1201Q 0.037 0.016 0.027 15 43 6 0.038 8 0 0 0 0 Conflicting interpretations of pathogenicity 8.647 35317 chr9 139975195 139975195 C T rs41302685 UAP1L1 Synonymous SNV N411N 0.085 0.099 0.078 28 100 38 0.072 23 5 0 2 1 7.853 35318 chr20 31688260 31688260 C T rs11696307 BPIFB4 Nonsynonymous SNV T533I 0.665 0.682 0.656 255 781 262 0.654 193 262 88 64 83 11.95 35319 chr19 9072975 9072975 G A rs17000816 MUC16 Nonsynonymous SNV T4824M 0.119 0.115 0.088 42 140 44 0.108 26 8 4 1 1 0.422 35320 chr9 139981627 139981627 A G rs968733 MAN1B1 Nonsynonymous SNV N59S 0.986 0.995 0.925 388 1158 382 0.995 272 571 190 135 193 Benign 0.015 35321 chr9 109689752 109689752 C T rs3814541 ZNF462 Nonsynonymous SNV P1187S 0.165 0.154 0.167 73 194 59 0.187 49 21 2 6 6 15.28 35322 chr20 31768363 31768363 C T rs34968847 BPIFA2 Synonymous SNV I249I 0.018 0.016 0.02 6 21 6 0.015 6 1 0 0 0 4.454 35323 chr19 9074073 9074073 G A rs72486387 MUC16 Nonsynonymous SNV P4458L 0.118 0.115 0.088 43 139 44 0.11 26 8 4 1 1 12.02 35324 chr9 140002989 140002989 T C rs4880091 MAN1B1 Synonymous SNV D682D 0.731 0.727 0.728 304 858 279 0.779 214 309 94 78 121 Benign 0.004 35325 chr20 31812923 31812923 G A rs3818222 BPIFA3 Nonsynonymous SNV V100I 0.457 0.5 0.49 165 537 192 0.423 144 125 51 36 36 0.01 35326 chr19 9077581 9077581 G T rs73011014 MUC16 Nonsynonymous SNV P3289T 0.118 0.115 0.088 43 138 44 0.11 26 8 4 1 1 4.028 35327 chr9 140006202 140006202 G A rs13631 DPP7 Synonymous SNV L404L 0.378 0.391 0.327 149 444 150 0.382 96 80 27 15 26 7.74 35328 chr19 8121096 8121096 G A rs74959615 CCL25 Nonsynonymous SNV R45H 0.116 0.078 0.082 48 136 30 0.123 24 5 1 1 3 0.003 35329 chr20 31897554 31897554 G C rs1999663 BPIFB1 Nonsynonymous SNV S479T 0.532 0.492 0.575 237 625 189 0.608 169 163 45 52 68 0.002 35330 chr9 140006425 140006425 C G rs10747048 DPP7 Synonymous SNV P369P 0.731 0.729 0.711 302 858 280 0.774 209 309 95 76 119 8.418 35331 chr20 3193842 3193842 C A rs1127354 ITPA Nonsynonymous SNV P32T 0.059 0.073 0.058 20 69 28 0.051 17 1 1 0 0 drug response 25.1 35332 chr9 140008750 140008750 G C rs10747049 DPP7 Nonsynonymous SNV A89G 0.673 0.672 0.67 277 790 258 0.71 197 293 90 74 110 4.767 35333 chr9 110084328 110084328 C T rs1805329 RAD23B Nonsynonymous SNV A228V 0.141 0.174 0.119 54 165 67 0.138 35 12 6 3 5 23.3 35334 chr20 3193978 3193978 G A rs8362 ITPA Synonymous SNV Q46Q 0.327 0.339 0.293 111 384 130 0.285 86 64 24 16 16 9.099 35335 chr9 140064219 140064219 T C rs12000091 LRRC26 Synonymous SNV A59A 0.153 0.161 0.163 51 180 62 0.131 48 20 10 8 7 0.037 35336 chr9 111653574 111653574 C G rs1063110 ELP1 Synonymous SNV L674L 0.447 0.419 0.408 171 525 161 0.438 120 114 43 24 31 Benign 10.79 35337 chr19 7755056 7755056 G A rs2228138 FCER2 Synonymous SNV H238H 0.322 0.302 0.306 134 378 116 0.344 90 73 25 15 33 2.345 35338 chr20 3204084 3204084 G A rs9101 ITPA Nonsynonymous SNV S75N 0.305 0.333 0.296 107 358 128 0.274 87 57 23 15 16 9.48 35339 chr9 140120396 140120396 C T rs6606566 CYSRT1 Nonsynonymous SNV A108V 0.872 0.862 0.847 321 1024 331 0.823 249 446 142 106 131 2.713 35340 chr19 57065641 57065641 G A ZFP28 Nonsynonymous SNV R496K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.9 35341 chr9 111727670 111727670 C G rs7021366 CTNNAL1 Nonsynonymous SNV E527Q 0.242 0.24 0.228 89 284 92 0.228 67 32 12 10 7 21.3 35342 chr20 3214581 3214581 C T rs3803956 SLC4A11 Synonymous SNV S213S 0.193 0.211 0.153 60 227 81 0.154 45 18 8 4 0 Benign 13.36 35343 chr20 3214819 3214819 T G rs3827075 SLC4A11 Synonymous SNV R161R 0.371 0.336 0.395 147 436 129 0.377 116 70 18 24 28 Benign 0.213 35344 chr19 57066113 57066113 G A rs61740017 ZFP28 Synonymous SNV A653A 0.013 0.008 0.007 4 15 3 0.01 2 0 0 0 0 1.754 35345 chr20 3218634 3218634 G C rs3810562 SLC4A11 Nonsynonymous SNV P26R 0.588 0.583 0.578 223 690 224 0.572 170 202 61 47 62 0.006 35346 chr9 111755008 111755008 C T rs2297581 CTNNAL1 Synonymous SNV V141V 0.244 0.24 0.231 86 286 92 0.221 68 32 12 10 6 12.33 35347 chr9 140130606 140130606 A T rs28542318 SLC34A3 Nonsynonymous SNV E513V 0.904 0.924 0.871 337 1061 355 0.864 256 479 164 116 145 Benign 7.014 35348 chr19 57326721 57326721 C T rs36044899 PEG3 Nonsynonymous SNV R875Q 0.026 0.052 0.027 13 31 20 0.033 8 0 0 0 0 3.363 35349 chr9 111868885 111868885 G A rs2271878 TMEM245 Synonymous SNV S234S 0.239 0.253 0.238 94 281 97 0.241 70 29 16 9 9 11.48 35350 chr20 32212690 32212690 C T rs3803939 CBFA2T2 Synonymous SNV P271P 0.529 0.516 0.524 219 621 198 0.562 154 165 56 42 58 8.477 35351 chr9 140139757 140139757 G A rs9775264 FAM166A 0.998 1 0.918 385 1172 384 0.987 270 585 192 134 190 13.98 35352 chr9 111881856 111881856 T C rs1051474 TMEM245 Nonsynonymous SNV H113R 0.238 0.263 0.238 94 279 101 0.241 70 28 16 9 9 0.592 35353 chr20 32248163 32248163 C T rs3746460 NECAB3 Synonymous SNV T142T 0.286 0.281 0.293 113 336 108 0.29 86 54 15 14 17 9.002 35354 chr20 32264675 32264675 C T rs3213176 E2F1 Nonsynonymous SNV G393S 0.016 0.005 0.02 9 19 2 0.023 6 0 0 0 0 6.052 35355 chr19 57132750 57132750 - A rs771687311 ZNF71 Frameshift insertion P33Sfs*45 0.003 0.005 0 0 3 2 0 0 0 0 0 0 35356 chr9 140147152 140147152 C G rs28376526 STPG3 Synonymous SNV P177P 0.778 0.776 0.745 303 913 298 0.777 219 343 116 83 117 8.713 35357 chr19 57133375 57133375 G T rs144761166 ZNF71 Nonsynonymous SNV K240N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.4 35358 chr9 140167022 140167022 G A rs3204123 NELFB Synonymous SNV P565P 0.783 0.779 0.745 302 919 299 0.774 219 349 117 84 117 5.969 35359 chr20 32295541 32295541 C T rs910397 PXMP4 Nonsynonymous SNV V204I 0.524 0.521 0.493 220 615 200 0.564 145 158 54 39 59 0.577 35360 chr9 140243844 140243844 C T rs28545754 EXD3 Nonsynonymous SNV C545Y 0.67 0.664 0.639 268 786 255 0.687 188 266 85 57 90 0.002 35361 chr19 572680 572680 A G rs11551906 BSG Nonsynonymous SNV T16A 0.012 0.005 0.003 1 14 2 0.003 1 1 0 0 0 0.001 35362 chr20 32664865 32664865 - AGT rs57852506 RALY A214_G215insS 0.025 0.042 0.024 10 29 16 0.026 7 0 0 1 0 35363 chr19 804142 804142 A G rs61757783 PTBP1 Synonymous SNV E74E 0.014 0.01 0.01 6 16 4 0.015 3 0 0 0 0 0.079 35364 chr9 140247143 140247143 T G rs7020732 EXD3 Nonsynonymous SNV E322D 0.869 0.896 0.864 345 1020 344 0.885 254 448 156 110 152 0.002 35365 chr9 111956599 111956599 G A rs3750447 EPB41L4B Synonymous SNV A708A 0.5 0.482 0.48 200 587 185 0.513 141 137 41 39 48 9.975 35366 chr20 3278682 3278682 G A rs41281886 C20orf194 Synonymous SNV Y641Y 0.022 0.026 0.024 5 26 10 0.013 7 0 0 0 0 5.23 35367 chr20 3285126 3285126 A T rs2254916 C20orf194 Synonymous SNV I581I 0.227 0.214 0.238 89 266 82 0.228 70 31 9 10 9 6.717 35368 chr19 808577 808577 C T rs148751202 PTBP1 Synonymous SNV H400H 0.014 0.01 0.007 6 16 4 0.015 2 0 0 0 0 10.77 35369 chr9 112082510 112082510 C T rs117569740 EPB41L4B Nonsynonymous SNV V73M 0.086 0.083 0.071 29 101 32 0.074 21 7 4 3 5 26.1 35370 chr20 3285140 3285140 T C rs2422864 C20orf194 Nonsynonymous SNV R577G 0.858 0.828 0.823 313 1007 318 0.803 242 427 133 101 122 13.88 35371 chr9 140250818 140250818 C T rs7389423 EXD3 Nonsynonymous SNV R220Q 0.873 0.898 0.861 346 1025 345 0.887 253 451 155 108 153 1.342 35372 chr9 112172674 112172674 C T rs17803052 PTPN3 Synonymous SNV P113P 0.081 0.086 0.112 51 95 33 0.131 33 4 2 4 3 18.55 35373 chr20 33337751 33337751 T C rs3787220 NCOA6 Synonymous SNV P749P 0.865 0.846 0.884 349 1015 325 0.895 260 440 140 117 155 0.063 35374 chr9 140262426 140262426 C T rs11533158 EXD3 Nonsynonymous SNV A160T 0.709 0.724 0.701 284 832 278 0.728 206 302 98 72 100 0.4 35375 chr20 33470694 33470694 C T rs4911163 ACSS2 Synonymous SNV F92F 0.584 0.622 0.575 226 686 239 0.579 169 201 72 47 68 13.42 35376 chr20 33565755 33565755 G A rs11906160 MYH7B Nonsynonymous SNV A25T 0.093 0.089 0.129 40 109 34 0.103 38 0 1 3 3 8.855 35377 chr9 140277794 140277794 T C rs80074261 EXD3 Nonsynonymous SNV T31A 0.094 0.104 0.075 36 110 40 0.092 22 8 4 2 0 0.002 35378 chr19 55054854 55054854 G A rs12975662 KIR3DX1 0.129 0.138 0.116 66 152 53 0.169 34 13 3 3 10 4.56 35379 chr20 33578202 33578202 G A rs140486571 MIR499A 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 14.61 35380 chr20 33578899 33578899 T C rs2425009 MYH7B Synonymous SNV L762L 0.798 0.807 0.806 315 937 310 0.808 237 372 125 98 128 6.763 35381 chr19 9067726 9067726 G A rs766198561 MUC16 Nonsynonymous SNV P6574S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.079 35382 chr9 140277826 140277826 C T rs13291830 EXD3 Nonsynonymous SNV R20Q 0.593 0.544 0.452 235 696 209 0.603 133 225 56 42 71 12.92 35383 chr20 33581955 33581955 G A rs2425012 MYH7B Synonymous SNV A859A 0.459 0.411 0.452 173 539 158 0.444 133 121 30 32 37 Benign 11.99 35384 chr20 33583331 33583331 A G rs2425015 MYH7B Nonsynonymous SNV K1007E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 16.05 35385 chr1 111726869 111726869 G A rs3795823 CEPT1 Synonymous SNV A396A 0.235 0.253 0.18 88 276 97 0.226 53 34 12 8 13 10.82 35386 chr19 8201121 8201121 C T rs35277492 FBN3 Nonsynonymous SNV R473Q 0.034 0.044 0.037 17 40 17 0.044 11 0 1 0 0 5.106 35387 chr19 57646393 57646393 T A rs111350153 ZIM3 Stop gain K438X 0.014 0.01 0.024 6 17 4 0.015 7 0 0 0 0 33 35388 chr9 140330976 140330976 T C rs13297080 ENTPD8 Synonymous SNV V261V 0.922 0.924 0.915 366 1082 355 0.938 269 498 165 124 171 0.107 35389 chr1 111783982 111783982 C T rs13721 CHI3L2 Nonsynonymous SNV R308W 0.101 0.125 0.058 41 118 48 0.105 17 4 2 1 3 Benign 11.1 35390 chr20 33584289 33584289 C T rs3746438 MYH7B Synonymous SNV T1070T 0.506 0.443 0.493 184 594 170 0.472 145 148 37 39 41 14.49 35391 chr9 140332478 140332478 A G rs6606582 ENTPD8 Nonsynonymous SNV L62P 0.929 0.927 0.915 372 1091 356 0.954 269 505 166 124 177 6.382 35392 chr9 112963702 112963702 G A rs4978888 C9orf152 Synonymous SNV N82N 0.163 0.172 0.17 69 191 66 0.177 50 14 3 4 5 2.145 35393 chr19 814452 814452 C T rs3746138 PLPPR3 Synonymous SNV A299A 0.014 0.01 0.007 6 16 4 0.015 2 0 0 0 0 8.818 35394 chr20 33585437 33585437 C T rs55734215 MYH7B Synonymous SNV R1289R 0.079 0.073 0.095 35 93 28 0.09 28 0 1 2 3 11.94 35395 chr19 917526 917526 A G rs10407968 KISS1R Synonymous SNV G8G 0.142 0.143 0.143 59 167 55 0.151 42 15 6 2 4 Benign 4.345 35396 chr20 33587596 33587596 G A rs80109502 MYH7B Synonymous SNV G1598G 0.063 0.055 0.095 32 74 21 0.082 28 0 1 2 3 9.674 35397 chr9 140357972 140357972 A G rs1891627 PNPLA7 Nonsynonymous SNV W1055R 0.998 1 0.997 389 1172 384 0.997 293 585 192 146 194 1.246 35398 chr20 3362033 3362033 T C rs6051818 C20orf194 Synonymous SNV V92V 0.202 0.242 0.201 68 237 93 0.174 59 21 12 9 2 2.282 35399 chr9 113168501 113168501 A G rs41278435 SVEP1 Nonsynonymous SNV S3127P 0.043 0.039 0.027 10 51 15 0.026 8 3 0 0 1 0.007 35400 chr1 111825226 111825226 C T rs6687390 CHIAP2 0.239 0.247 0.017 110 280 95 0.282 5 36 12 2 12 14.56 35401 chr20 33657126 33657126 G A rs1998233 TRPC4AP Synonymous SNV Y129Y 0.801 0.807 0.81 315 940 310 0.808 238 374 125 98 128 8.563 35402 chr20 33764554 33764554 A G rs867186 PROCR Nonsynonymous SNV S219G 0.084 0.083 0.092 36 99 32 0.092 27 1 1 2 4 11.84 35403 chr9 140361847 140361847 G A rs61738892 PNPLA7 Synonymous SNV I962I 0.083 0.063 0.082 20 98 24 0.051 24 2 1 3 0 8.194 35404 chr9 140373575 140373575 C G rs61747535 PNPLA7 Nonsynonymous SNV W874S 0.064 0.06 0.048 18 75 23 0.046 14 2 2 2 0 26.4 35405 chr19 9267319 9267319 G T rs3752199 ZNF317 Nonsynonymous SNV Q19H 0.134 0.135 0.129 38 157 52 0.097 38 12 4 2 2 0.046 35406 chr20 33875024 33875024 C T rs139131403 FAM83C Nonsynonymous SNV V520M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 35407 chr9 140374861 140374861 A G rs1891630 PNPLA7 Nonsynonymous SNV V803A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.311 35408 chr19 9270817 9270817 A G rs142660404 ZNF317 Nonsynonymous SNV T134A 0.004 0.016 0.01 3 5 6 0.008 3 0 0 0 0 0.021 35409 chr20 33971914 33971914 C T rs4911494 UQCC1 Nonsynonymous SNV R51Q 0.567 0.563 0.551 216 666 216 0.554 162 196 61 43 61 0.192 35410 chr9 140392616 140392616 G A rs61754920 PNPLA7 Synonymous SNV I588I 0.108 0.102 0.092 28 127 39 0.072 27 9 6 4 1 14.86 35411 chr9 113234507 113234507 T C rs10817025 SVEP1 Nonsynonymous SNV K899R 0.308 0.315 0.252 120 362 121 0.308 74 57 15 8 17 0.051 35412 chr20 34022387 34022387 A C rs224331 GDF5 Nonsynonymous SNV S276A 0.406 0.406 0.412 161 477 156 0.413 121 102 29 24 35 Benign 10.46 35413 chr19 57765152 57765152 A G rs182696296 ZNF805 Nonsynonymous SNV K189R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 35414 chr9 140414410 140414410 C T rs11137410 PNPLA7 Nonsynonymous SNV R323Q 0.118 0.125 0.095 39 138 48 0.1 28 10 4 4 3 3.049 35415 chr20 34144746 34144746 A G rs8825 ERGIC3 Synonymous SNV V294V 0.097 0.086 0.105 39 114 33 0.1 31 5 2 2 3 13.3 35416 chr9 113251951 113251951 T C rs13286541 SVEP1 Nonsynonymous SNV I637V 0.118 0.104 0.088 39 138 40 0.1 26 9 2 3 1 0.086 35417 chr19 9324863 9324863 G A rs8109935 OR7D4 Synonymous SNV S217S 0.139 0.141 0.139 65 163 54 0.167 41 13 3 4 9 1.033 35418 chr20 34146779 34146779 T C rs8120157 FER1L4 0 0 0.102 0 0 0 0 30 0 0 2 0 6.72 35419 chr9 140509302 140509302 G T rs35018943 ARRDC1 Nonsynonymous SNV G363C 0.159 0.151 0.146 60 187 58 0.154 43 14 2 2 4 9.149 35420 chr20 34147998 34147998 A G rs224424 FER1L4 0 0 0.316 0 0 0 0 93 0 0 16 0 9.105 35421 chr9 113259152 113259152 T G rs10817033 SVEP1 Nonsynonymous SNV Q581H 0.15 0.182 0.143 75 176 70 0.192 42 13 9 4 7 22.6 35422 chr19 5778597 5778597 C G rs2305926 CATSPERD Synonymous SNV V769V 0.015 0.01 0.027 12 18 4 0.031 8 0 0 0 1 2.062 35423 chr20 34148001 34148001 C T rs2145021 FER1L4 0 0 0.102 0 0 0 0 30 0 0 2 0 12.63 35424 chr9 140611436 140611436 T C rs3812497 EHMT1 Synonymous SNV P117P 0.282 0.289 0.34 105 331 111 0.269 100 48 14 15 16 Benign 2.67 35425 chr20 34148322 34148322 T G rs41293076 FER1L4 0 0 0.099 0 0 0 0 29 0 0 2 0 17.93 35426 chr20 34152684 34152684 C T rs55799727 FER1L4 0 0 0.102 0 0 0 0 30 0 0 2 0 17.35 35427 chr9 140638461 140638461 T C rs1129768 EHMT1 Synonymous SNV G332G 0.391 0.391 0.463 125 459 150 0.321 136 92 29 32 20 Benign 0.095 35428 chr20 34164422 34164422 T C rs1557202 FER1L4 0 0 0.997 0 0 0 0 293 0 0 146 0 10.39 35429 chr20 34169971 34169971 T C rs55804447 FER1L4 0 0 0.112 0 0 0 0 33 0 0 2 0 14.85 35430 chr9 140648742 140648742 C T rs45450992 EHMT1 Synonymous SNV L425L 0.1 0.125 0.139 41 117 48 0.105 41 9 4 3 4 Benign 2.85 35431 chr9 113457726 113457726 G A rs10980531 MUSK Synonymous SNV E134E 0.189 0.169 0.143 68 222 65 0.174 42 15 8 4 7 Benign 8.139 35432 chr19 9362297 9362297 C T rs12980833 OR7E24 Nonsynonymous SNV S193F 0.078 0.086 0.112 38 91 33 0.097 33 5 0 3 2 22.2 35433 chr20 34170035 34170035 C G rs6060486 FER1L4 0 0 0.997 0 0 0 0 293 0 0 146 0 15.31 35434 chr20 34170316 34170316 C A rs6060487 FER1L4 0 0 0.997 0 0 0 0 293 0 0 146 0 18.09 35435 chr9 140772613 140772613 C G rs139719558 CACNA1B Nonsynonymous SNV F76L 0.013 0.005 0.017 3 15 2 0.008 5 0 0 0 0 24.9 35436 chr20 34173178 34173178 A G rs6060488 FER1L4 0 0 0.724 0 0 0 0 213 0 0 72 0 1.771 35437 chr20 34183479 34183479 C T rs57545942 FER1L4 0 0 0.17 0 0 0 0 50 0 0 4 0 7.71 35438 chr19 57889072 57889072 G A rs141614487 ZNF547 Nonsynonymous SNV S243N 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 8.174 35439 chr20 34186953 34186953 T C rs6120997 FER1L4 0 0 0.49 0 0 0 0 144 0 0 37 0 12.53 35440 chr9 140777306 140777306 C G rs4422842 CACNA1B Nonsynonymous SNV N167K 0.5 0.5 0.5 195 587 192 0.5 147 0 0 0 0 Benign 14.39 35441 chr20 34187697 34187697 A G rs41293080 FER1L4 0 0 0.259 0 0 0 0 76 0 0 12 0 9.038 35442 chr20 34187728 34187728 T G rs6058276 FER1L4 0 0 0.255 0 0 0 0 75 0 0 12 0 9.666 35443 chr20 34214173 34214173 G A rs11543239 CPNE1 Nonsynonymous SNV P534L 0.053 0.052 0.078 24 62 20 0.062 23 0 1 0 2 22.2 35444 chr1 112033285 112033285 G C rs2275797 TMIGD3 Synonymous SNV L69L 0.048 0.055 0.048 24 56 21 0.062 14 4 0 0 1 2.095 35445 chr9 140777370 140777370 A C rs1110146 LOC100133077 0.546 0.542 0.534 211 641 208 0.541 157 54 16 10 16 3.115 35446 chr19 9578370 9578370 C T rs111436709 ZNF560 Nonsynonymous SNV G312D 0.024 0.023 0.024 9 28 9 0.023 7 0 0 0 0 22 35447 chr20 34219480 34219480 G A rs2230219 CPNE1 Synonymous SNV D216D 0.053 0.052 0.075 23 62 20 0.059 22 0 1 0 2 2.662 35448 chr9 140918171 140918185 GGAGAAGGAGACCAC - rs145816559 CACNA1B T996_E1000del 0.141 0.141 0.143 49 166 54 0.126 42 25 10 4 4 35449 chr20 34219496 34219496 T C rs6579255 CPNE1 Nonsynonymous SNV Q211R 0.227 0.193 0.211 101 267 74 0.259 62 30 8 6 15 12.89 35450 chr9 140938183 140938183 A G rs3750506 LOC101928786 0.263 0.266 0.214 93 309 102 0.238 63 40 14 7 11 1.367 35451 chr19 57839690 57839690 A T rs35238720 ZNF543 Nonsynonymous SNV E287V 0.135 0.109 0.092 36 158 42 0.092 27 5 4 3 0 23.2 35452 chr9 114393784 114393784 G A rs10980984 DNAJC25, DNAJC25-GNG10 Nonsynonymous SNV V33M 0.07 0.07 0.102 30 82 27 0.077 30 14 7 1 1 17.89 35453 chr19 855699 855699 G A rs201313263 ELANE Nonsynonymous SNV V168I 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Uncertain significance 0.21 35454 chr9 141008876 141008876 C T rs2229948 CACNA1B Synonymous SNV F1861F 0.724 0.727 0.765 291 850 279 0.746 225 301 102 91 108 16.99 35455 chr20 34220755 34220755 C T rs11543244 CPNE1 Nonsynonymous SNV V31I 0.053 0.052 0.075 23 62 20 0.059 22 0 1 0 2 24.5 35456 chr19 57840072 57840072 A G rs147736998 ZNF543 Synonymous SNV Q414Q 0.014 0.026 0.02 6 17 10 0.015 6 1 0 0 0 2.86 35457 chr9 141016262 141016262 T G rs2278973 CACNA1B Nonsynonymous SNV L2215R 0.921 0.906 0.925 347 1081 348 0.89 272 499 156 126 153 0.678 35458 chr9 114411945 114411945 G T rs7019332 DNAJC25 Synonymous SNV G234G 0.205 0.211 0.207 87 241 81 0.223 61 24 10 5 6 4.472 35459 chr20 34243017 34243017 C T rs6121015 RBM12 Synonymous SNV K76K 0.227 0.193 0.211 102 267 74 0.262 62 30 8 6 15 11.45 35460 chr19 57840505 57840505 G A rs73633729 ZNF543 Nonsynonymous SNV G559R 0.014 0.026 0.024 8 17 10 0.021 7 1 0 0 0 21.8 35461 chr19 8567475 8567475 T C rs968502 PRAM1 Star tloss M1? 0.168 0.185 0.119 68 197 71 0.174 35 18 6 2 4 0.001 35462 chr20 34560609 34560609 G A rs17347958 CNBD2 Nonsynonymous SNV R37H 0.058 0.065 0.099 27 68 25 0.069 29 1 0 3 2 34 35463 chr19 57865149 57865149 C T rs862704 ZNF304 Synonymous SNV L30L 0.207 0.185 0.16 67 243 71 0.172 47 20 9 6 7 16.17 35464 chr20 34596371 34596371 C T rs6060750 CNBD2 Nonsynonymous SNV P375S 0.227 0.219 0.245 97 266 84 0.249 72 41 13 12 15 18.39 35465 chr19 8576670 8576670 C T rs7175 ZNF414 Synonymous SNV P235P 0.164 0.174 0.116 68 193 67 0.174 34 16 6 2 3 12.45 35466 chr20 34599133 34599133 T C rs144534589 CNBD2 Nonsynonymous SNV V408A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.16 35467 chr19 8578000 8578000 G A rs1064010 ZNF414 Nonsynonymous SNV P77S 0.17 0.19 0.139 66 199 73 0.169 41 16 6 2 3 6.819 35468 chr19 57868879 57868879 T C rs34411126 ZNF304 Synonymous SNV L548L 0.168 0.143 0.126 48 197 55 0.123 37 9 6 6 0 2.408 35469 chr20 35467713 35467713 G A rs1146250 SOGA1 Synonymous SNV Y273Y 0.435 0.411 0.401 183 511 158 0.469 118 102 34 21 38 6.975 35470 chr19 8578118 8578118 A G rs1064009 ZNF414 Synonymous SNV P37P 0.17 0.18 0.136 68 199 69 0.174 40 16 6 3 3 0.777 35471 chr20 35491551 35491551 A G rs6029806 SOGA1 Nonsynonymous SNV F66S 0.997 0.995 0.745 387 1170 382 0.992 219 585 191 109 193 1.014 35472 chr1 113254648 113254648 A G rs78366259 PPM1J Nonsynonymous SNV I291T 0.009 0.016 0.017 8 10 6 0.021 5 0 0 0 1 24.6 35473 chr20 3564672 3564672 C T rs235540 ATRN Synonymous SNV Y848Y 0.723 0.672 0.724 271 849 258 0.695 213 308 89 80 93 15.15 35474 chr19 57909827 57909827 G T rs17856896 ZNF548 Nonsynonymous SNV A58S 0.158 0.135 0.122 41 185 52 0.105 36 8 5 6 0 8.212 35475 chr20 35865054 35865054 C T rs4608 RPN2 Synonymous SNV L452L 0.886 0.846 0.871 332 1040 325 0.851 256 458 136 110 139 Benign 16.33 35476 chr1 113255058 113255058 G A rs767691168 PPM1J Nonsynonymous SNV R251W 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.8 35477 chr20 36030939 36030939 G C rs1885257 SRC Synonymous SNV A406A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.28 35478 chr9 114694486 114694486 A G rs7850023 UGCG Synonymous SNV T287T 0.267 0.26 0.286 95 313 100 0.244 84 45 19 12 15 0.28 35479 chr1 100152323 100152323 C T PALMD Nonsynonymous SNV R115W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 35480 chr20 3624830 3624830 G A rs2246808 ATRN Synonymous SNV P1360P 0.524 0.49 0.466 195 615 188 0.5 137 168 53 29 46 14.22 35481 chr20 3640823 3640823 C T rs2853208 GFRA4 Synonymous SNV P267P 0.457 0.469 0.48 182 536 180 0.467 141 122 49 38 45 10.1 35482 chr19 8670147 8670147 C T rs62621197 ADAMTS10 Nonsynonymous SNV R62Q 0.068 0.07 0.088 45 80 27 0.115 26 3 1 2 1 Benign 21 35483 chr9 114982463 114982463 T C rs7855745 PTBP3 Nonsynonymous SNV T545A 0.425 0.453 0.449 149 499 174 0.382 132 105 38 37 26 3.677 35484 chr20 3651742 3651742 C G rs528557 ADAM33 Synonymous SNV G691G 0.333 0.326 0.296 130 391 125 0.333 87 69 21 10 25 8.913 35485 chr9 114982549 114982549 C T rs7869523 PTBP3 Nonsynonymous SNV S516N 0.425 0.453 0.449 149 499 174 0.382 132 105 38 37 26 1.058 35486 chr20 3651765 3651765 C T rs3918396 ADAM33 Nonsynonymous SNV V684I 0.079 0.089 0.071 31 93 34 0.079 21 5 1 0 1 10.61 35487 chr20 3675333 3675333 G A rs3746638 SIGLEC1 Nonsynonymous SNV A974V 0.528 0.526 0.466 200 620 202 0.513 137 159 57 31 49 12.72 35488 chr1 100436133 100436133 A G rs11166383 SLC35A3 Nonsynonymous SNV D14G 0.056 0.039 0.065 14 66 15 0.036 19 1 1 0 1 5.461 35489 chr19 8808733 8808733 C G rs781807703 ACTL9 Nonsynonymous SNV E107Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21 35490 chr20 3675498 3675498 T G rs709012 SIGLEC1 Nonsynonymous SNV H919P 0.611 0.591 0.524 229 717 227 0.587 154 218 72 43 69 10.09 35491 chr9 115652881 115652881 G T rs3802491 SLC46A2 Synonymous SNV A27A 0.315 0.305 0.354 129 370 117 0.331 104 55 17 14 20 7.328 35492 chr9 115925104 115925104 C T rs3810906 SLC31A2 Synonymous SNV A113A 0.282 0.302 0.299 125 331 116 0.321 88 51 23 13 22 19 35493 chr20 3677357 3677357 T C rs501538 SIGLEC1 Synonymous SNV K853K 0.99 0.995 0.986 389 1162 382 0.997 290 575 190 143 194 0.075 35494 chr9 115950156 115950156 G A rs10465129 FKBP15 Nonsynonymous SNV L434F 0.085 0.099 0.088 44 100 38 0.113 26 6 1 1 4 15.87 35495 chr20 3677736 3677736 T G rs673114 SIGLEC1 Synonymous SNV V792V 0.617 0.604 0.541 237 724 232 0.608 159 229 76 44 70 0.943 35496 chr20 3682011 3682011 G A rs1018493 SIGLEC1 Synonymous SNV S502S 0.612 0.625 0.544 245 719 240 0.628 160 212 79 46 76 11.02 35497 chr19 8578199 8578199 T C rs1141019 ZNF414 Synonymous SNV P10P 0.158 0.167 0.139 63 186 64 0.162 41 16 6 2 3 0.02 35498 chr20 3682126 3682126 C T rs34924243 SIGLEC1 Nonsynonymous SNV R464H 0.06 0.078 0.054 24 71 30 0.062 16 9 2 0 1 33 35499 chr20 3682275 3682275 A G rs1018492 SIGLEC1 Synonymous SNV T414T 0.612 0.625 0.537 245 718 240 0.628 158 212 79 45 76 0.198 35500 chr1 100623922 100623922 T C rs12122948 LRRC39 Synonymous SNV G126G 0.049 0.023 0.065 10 57 9 0.026 19 3 1 0 0 11.88 35501 chr20 3684022 3684022 A G rs611847 SIGLEC1 Synonymous SNV N350N 0.661 0.661 0.588 257 776 254 0.659 173 253 86 51 85 0.053 35502 chr9 116060068 116060068 C G rs41276789 RNF183 Nonsynonymous SNV D133H 0.021 0.021 0.01 8 25 8 0.021 3 1 0 0 0 6.236 35503 chr20 36841756 36841756 T C rs1534967 KIAA1755 Synonymous SNV S748S 0.445 0.43 0.435 179 522 165 0.459 128 109 30 30 45 0.01 35504 chr20 36841914 36841914 G A rs3746471 KIAA1755 Nonsynonymous SNV R696W 0.428 0.406 0.418 171 502 156 0.438 123 100 25 29 43 21.9 35505 chr20 36845738 36845738 C T rs760998 KIAA1755 Nonsynonymous SNV E591K 0.263 0.318 0.282 92 309 122 0.236 83 38 16 11 11 8.575 35506 chr20 3684729 3684729 T C rs625372 SIGLEC1 Nonsynonymous SNV K239R 0.662 0.661 0.588 257 777 254 0.659 173 254 86 51 85 3.431 35507 chr19 58596109 58596109 A T rs146022713 ZSCAN18 Synonymous SNV G356G 0.071 0.042 0.01 24 83 16 0.062 3 2 0 0 1 0.032 35508 chr19 58131576 58131576 T C rs10414451 ZNF134 Nonsynonymous SNV I30T 0.085 0.089 0.075 35 100 34 0.09 22 3 0 0 2 6.987 35509 chr1 100949860 100949860 G A rs2270694 CDC14A Synonymous SNV S37S 0.152 0.198 0.126 67 178 76 0.172 37 15 6 2 7 Benign 13.03 35510 chr20 36850940 36850940 G C rs41310010 KIAA1755 Synonymous SNV P427P 0.128 0.172 0.119 30 150 66 0.077 35 12 5 3 3 10.97 35511 chr1 101004739 101004739 G C GPR88 Nonsynonymous SNV G73R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 35512 chr19 58132106 58132106 A C rs34034473 ZNF134 Nonsynonymous SNV S207R 0.084 0.089 0.071 35 99 34 0.09 21 3 0 0 2 21.5 35513 chr20 3686436 3686436 C T rs6037651 SIGLEC1 Nonsynonymous SNV V221M 0.606 0.625 0.541 246 711 240 0.631 159 207 80 45 77 6.827 35514 chr9 116132092 116132092 G C rs818711 BSPRY Nonsynonymous SNV Q298H 0.096 0.102 0.095 35 113 39 0.09 28 4 2 0 2 13.48 35515 chr20 36869516 36869516 C A rs1205434 KIAA1755 Nonsynonymous SNV K339N 0.379 0.38 0.384 158 445 146 0.405 113 83 29 18 31 23.5 35516 chr19 58132534 58132534 C T rs34357677 ZNF134 Synonymous SNV C349C 0.019 0.013 0.003 6 22 5 0.015 1 0 0 0 0 11.74 35517 chr9 116136198 116136198 C T rs1043836 HDHD3 Nonsynonymous SNV G146E 0.622 0.664 0.667 248 730 255 0.636 196 235 83 64 80 0.001 35518 chr20 36870122 36870122 T G rs1205435 KIAA1755 Synonymous SNV P137P 0.378 0.38 0.367 158 444 146 0.405 108 83 29 18 31 0.031 35519 chr20 36932660 36932660 C T rs1341023 BPI Nonsynonymous SNV A12V 0.622 0.615 0.52 240 730 236 0.615 153 225 75 40 73 Benign 21.3 35520 chr1 10190575 10190575 G C rs61760196 UBE4B Nonsynonymous SNV L442F 0.044 0.055 0.024 16 52 21 0.041 7 0 1 0 0 24.5 35521 chr9 116153891 116153891 C G rs1800435 ALAD Nonsynonymous SNV K51N 0.121 0.091 0.088 35 142 35 0.09 26 9 3 0 0 Benign 13.27 35522 chr1 115130353 115130353 C T rs61000990 DENND2C Synonymous SNV R827R 0.086 0.078 0.054 22 101 30 0.056 16 4 2 1 0 12.04 35523 chr20 36932676 36932676 G C rs1341024 BPI Synonymous SNV L17L 0.621 0.615 0.52 241 729 236 0.618 153 227 75 40 74 Benign 2.348 35524 chr19 58151294 58151294 T A rs4801509 ZNF211 Nonsynonymous SNV W78R 0.072 0.078 0.065 34 84 30 0.087 19 2 0 0 1 0.003 35525 chr1 115151373 115151373 C T rs142662286 DENND2C Synonymous SNV V440V 0.046 0.06 0.041 19 54 23 0.049 12 0 1 0 0 13.97 35526 chr20 36946848 36946848 G A rs4358188 BPI Nonsynonymous SNV E212K 0.411 0.385 0.463 186 482 148 0.477 136 95 22 29 44 Benign 0.111 35527 chr9 116269892 116269892 C T rs36062487 RGS3 Synonymous SNV L190L 0.053 0.068 0.014 20 62 26 0.051 4 1 1 0 1 12.43 35528 chr19 9267292 9267292 G A rs35822846 ZNF317 Synonymous SNV T10T 0.093 0.076 0.085 41 109 29 0.105 25 8 0 1 4 9.4 35529 chr1 115164554 115164554 C T rs56861557 DENND2C Nonsynonymous SNV G397S 0.086 0.078 0.054 22 101 30 0.056 16 4 2 1 0 25.1 35530 chr20 36989381 36989381 G A rs2232596 LBP Synonymous SNV S204S 0.52 0.578 0.582 212 611 222 0.544 171 167 64 46 54 6.528 35531 chr19 9271969 9271969 C A rs9305035 ZNF317 Synonymous SNV R518R 0.093 0.076 0.085 42 109 29 0.108 25 8 0 1 4 20.3 35532 chr20 37062583 37062583 T C rs788347 SNORA71D 0 0 0.816 0 0 0 0 240 0 0 104 0 13.99 35533 chr20 371972 371972 T C rs6051637 TRIB3 Synonymous SNV Y111Y 0.624 0.617 0.626 248 733 237 0.636 184 236 72 67 75 0.001 35534 chr9 116356430 116356430 G T rs147596194 RGS3 Nonsynonymous SNV Q77H 0.053 0.068 0.017 20 62 26 0.051 5 1 1 0 1 14.31 35535 chr20 37534665 37534665 C T rs4812332 PPP1R16B Synonymous SNV D250D 0.37 0.354 0.408 126 434 136 0.323 120 73 28 28 20 11.42 35536 chr19 9297273 9297273 C G rs61732246 OR7D2 Synonymous SNV S272S 0.02 0.039 0.02 7 24 15 0.018 6 0 0 0 0 8.415 35537 chr1 115601528 115601528 C G rs3738702 TSPAN2 Synonymous SNV G115G 0.135 0.151 0.112 49 159 58 0.126 33 5 5 2 3 8.115 35538 chr20 37555116 37555116 G C rs3752290 FAM83D Nonsynonymous SNV V11L 0.382 0.359 0.442 136 448 138 0.349 130 79 28 33 25 0.356 35539 chr20 37570725 37570725 C T rs3752293 FAM83D Synonymous SNV L203L 0.383 0.362 0.442 136 450 139 0.349 130 79 28 33 25 9.489 35540 chr20 37601243 37601243 A G rs16987712 DHX35 Synonymous SNV T72T 0.258 0.245 0.31 91 303 94 0.233 91 40 14 18 13 0.389 35541 chr19 9434872 9434872 C T rs28384491 ZNF559 Synonymous SNV A6A 0.118 0.107 0.078 38 139 41 0.097 23 5 3 1 3 11.6 35542 chr20 3843027 3843027 C A rs7262903 MAVS Nonsynonymous SNV Q57K 0.225 0.193 0.187 73 264 74 0.187 55 30 8 4 6 13.27 35543 chr1 115632019 115632019 T G rs529592961 TSPAN2 Nonsynonymous SNV K12T 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 24.4 35544 chr19 58213693 58213693 C T rs61730373 ZNF154 Synonymous SNV R208R 0.158 0.156 0.156 70 186 60 0.179 46 13 3 2 8 16.88 35545 chr19 9490814 9490814 C T rs2217652 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV T112M 0.643 0.661 0.575 240 755 254 0.615 169 261 87 50 73 8.495 35546 chr9 116791084 116791084 C A rs759571727 ZNF618 Nonsynonymous SNV P274T 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 20.9 35547 chr1 10342522 10342522 G A rs17034660 KIF1B Synonymous SNV T409T 0.047 0.057 0.031 22 55 22 0.056 9 0 1 0 0 Benign 14.2 35548 chr19 58213773 58213773 G C rs2188736 ZNF154 Nonsynonymous SNV L182V 0.159 0.156 0.156 70 187 60 0.179 46 13 3 2 8 0.038 35549 chr19 9492141 9492141 C T rs3826783 ZNF177, ZNF559-ZNF177 Synonymous SNV I378I 0.625 0.635 0.558 231 734 244 0.592 164 244 83 45 68 14.75 35550 chr20 3846397 3846397 C T rs7269320 MAVS Nonsynonymous SNV S268F 0.229 0.201 0.184 73 269 77 0.187 54 30 8 4 6 16.04 35551 chr1 10397567 10397567 A G rs2297881 KIF1B Nonsynonymous SNV Y1087C 0.046 0.057 0.034 22 54 22 0.056 10 0 1 0 0 Benign 31 35552 chr19 9492370 9492370 A T rs2230752 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV I455F 0.625 0.635 0.558 230 734 244 0.59 164 244 83 45 68 14.15 35553 chr19 58233008 58233008 G A rs3746207 ZNF671 Nonsynonymous SNV A51V 0.136 0.13 0.136 55 160 50 0.141 40 12 2 1 7 7.251 35554 chr20 3870124 3870124 G C rs3737084 PANK2 Nonsynonymous SNV G126A 0.882 0.896 0.84 337 1036 344 0.864 247 465 156 105 148 Benign 9.541 35555 chr9 116854183 116854183 A G rs117751044 KIF12 Synonymous SNV S500S 0.05 0.034 0.031 15 59 13 0.038 9 1 0 0 0 0.042 35556 chr10 6264883 6264883 G A rs2230272 PFKFB3 Synonymous SNV V363V 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 12.48 35557 chr9 116930100 116930100 G A rs2567707 COL27A1 Nonsynonymous SNV V89I 0.307 0.315 0.327 127 360 121 0.326 96 58 17 15 24 0.034 35558 chr19 9524185 9524185 A G rs2241356 ZNF266 Synonymous SNV A472A 0.646 0.659 0.578 239 758 253 0.613 170 262 86 50 71 0.573 35559 chr20 390646 390646 G A rs41281892 RBCK1 Synonymous SNV E48E 0.029 0.034 0.037 11 34 13 0.028 11 1 0 0 0 Benign 9.81 35560 chr1 116243868 116243868 A G rs28730711 CASQ2 Synonymous SNV D398D 0.078 0.065 0.061 33 92 25 0.085 18 4 1 1 3 Benign/Likely benign 0.966 35561 chr20 391170 391170 C T rs7059 RBCK1 Synonymous SNV Y94Y 0.433 0.456 0.432 183 508 175 0.469 127 127 33 32 45 3.938 35562 chr9 116930194 116930194 A G rs2567706 COL27A1 Nonsynonymous SNV Q120R 0.325 0.333 0.357 135 382 128 0.346 105 65 19 19 28 2.005 35563 chr20 39609426 39609426 C T rs4812473 LOC100128988 0.687 0.625 0.707 275 806 240 0.705 208 271 75 71 98 10.5 35564 chr20 39634616 39634616 C T rs1000411 LOC100128988 0.16 0.172 0.15 58 188 66 0.149 44 16 6 4 4 1.963 35565 chr20 39792063 39792063 A G rs2228246 PLCG1 Nonsynonymous SNV S279G 0.124 0.12 0.136 56 145 46 0.144 40 6 2 6 3 11.23 35566 chr1 10473200 10473200 G A rs2229688 PGD Nonsynonymous SNV D224N 0.045 0.057 0.037 22 53 22 0.056 11 0 1 0 0 20.5 35567 chr20 39797465 39797465 T C rs753381 PLCG1 Nonsynonymous SNV I813T 0.508 0.542 0.493 213 596 208 0.546 145 141 50 39 57 14.09 35568 chr9 116931445 116931445 T C rs2808770 COL27A1 Nonsynonymous SNV I537T 0.327 0.333 0.361 138 384 128 0.354 106 64 19 20 28 1.22 35569 chr19 58491039 58491039 T G rs117374829 ZNF606 Synonymous SNV R247R 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 0.385 35570 chr1 10479791 10479791 G A rs41274480 PGD Synonymous SNV S457S 0.046 0.057 0.037 22 54 22 0.056 11 0 1 0 0 9.65 35571 chr20 39832628 39832628 T C rs17265513 ZHX3 Nonsynonymous SNV N310S 0.15 0.146 0.153 84 176 56 0.215 45 7 4 7 8 14.69 35572 chr19 55944885 55944885 C T rs562562295 SHISA7 Nonsynonymous SNV E419K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 35573 chr9 116931666 116931666 A T rs2567705 COL27A1 Nonsynonymous SNV I611F 0.475 0.448 0.514 192 558 172 0.492 151 127 36 43 49 16.51 35574 chr19 58565233 58565233 G A rs73071865 ZSCAN1 Synonymous SNV P347P 0.067 0.055 0.037 21 79 21 0.054 11 0 0 1 1 5.386 35575 chr20 39980732 39980732 - AC rs764929023 LPIN3 Frameshift insertion P414Hfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 35576 chr19 55966673 55966673 G A rs140943962 ISOC2 Nonsynonymous SNV R55W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 35577 chr20 39986085 39986085 A C rs12625565 LPIN3 Nonsynonymous SNV Q680H 0.185 0.203 0.207 85 217 78 0.218 61 19 8 9 8 10.37 35578 chr9 116931737 116931737 C T rs2808771 COL27A1 Synonymous SNV G634G 0.326 0.333 0.361 136 383 128 0.349 106 64 19 20 28 12.05 35579 chr20 39990614 39990614 C T rs2235592 EMILIN3 Nonsynonymous SNV S532N 0.152 0.156 0.173 62 178 60 0.159 51 12 2 7 3 0.696 35580 chr9 116973273 116973273 C T rs34350265 COL27A1 Synonymous SNV G778G 0.099 0.078 0.085 48 116 30 0.123 25 10 0 2 3 16.76 35581 chr1 10719818 10719818 G A rs146116942 CASZ1 Synonymous SNV Y427Y 0.019 0.018 0.02 4 22 7 0.01 6 1 0 0 0 Benign 0.168 35582 chr20 39990700 39990700 T C rs41278104 EMILIN3 Synonymous SNV V503V 0.149 0.154 0.17 61 175 59 0.156 50 12 2 7 3 0.002 35583 chr20 39991144 39991144 A G rs41307177 EMILIN3 Synonymous SNV L355L 0.143 0.154 0.16 60 168 59 0.154 47 12 2 7 3 0.072 35584 chr1 10725587 10725587 C T rs76910492 CASZ1 Nonsynonymous SNV A20T 0.019 0.018 0.024 4 22 7 0.01 7 1 0 0 0 10.4 35585 chr20 39991171 39991171 G A rs61739307 EMILIN3 Synonymous SNV A346A 0.143 0.154 0.16 60 168 59 0.154 47 12 2 7 3 2.828 35586 chr19 9922223 9922223 G A rs17849496 FBXL12 Synonymous SNV H77H 0.064 0.078 0.092 36 75 30 0.092 27 0 3 1 1 11.02 35587 chr9 117050998 117050998 G A rs10982134 COL27A1 Nonsynonymous SNV R1354Q 0.318 0.37 0.435 138 373 142 0.354 128 58 27 32 24 23.6 35588 chr19 8999479 8999479 G A MUC16 Stop gain Q13566X 0.032 0.029 0.031 11 37 11 0.028 9 0 0 0 0 58 35589 chr20 41306600 41306600 A G rs2425516 PTPRT Synonymous SNV D353D 0.342 0.305 0.316 127 402 117 0.326 93 65 13 11 17 0.024 35590 chr20 4158164 4158164 C A rs11552911 SMOX Synonymous SNV T125T 0.111 0.068 0.112 35 130 26 0.09 33 10 1 1 1 15.22 35591 chr20 4163302 4163302 A G rs1051904 SMOX Synonymous SNV A392A 0.606 0.641 0.609 234 711 246 0.6 179 215 77 58 67 0.02 35592 chr19 58774094 58774094 C T rs34914886 ZNF544 Nonsynonymous SNV R680W 0.009 0.018 0.003 6 11 7 0.015 1 0 0 0 0 29.4 35593 chr20 4202699 4202699 A T ADRA1D Nonsynonymous SNV V397E 0 0 0.003 0 0 0 0 1 0 0 0 0 31 35594 chr20 42225114 42225114 G A rs2664519 IFT52 Synonymous SNV V53V 0.808 0.818 0.759 330 949 314 0.846 223 382 128 87 140 11.42 35595 chr20 42320881 42320881 C T rs2229036 MYBL2 Synonymous SNV D171D 0.071 0.065 0.078 16 83 25 0.041 23 2 1 0 0 13.03 35596 chr20 42328639 42328639 T C rs285162 MYBL2 Synonymous SNV P278P 0.959 0.943 0.912 370 1126 362 0.949 268 539 170 122 176 1.521 35597 chr20 42331457 42331457 A G rs2070235 MYBL2 Nonsynonymous SNV S403G 0.122 0.125 0.105 38 143 48 0.097 31 7 6 1 4 11.22 35598 chr1 117633170 117633170 G A rs148036415 TTF2 Nonsynonymous SNV R838H 0.009 0.008 0.007 5 10 3 0.013 2 0 0 0 0 34 35599 chr20 42694558 42694558 - CCG rs199841880 TOX2 P376_S377insP 0.129 0.122 0.095 40 152 47 0.103 28 8 3 3 3 35600 chr20 42939693 42939693 C T rs148377517 FITM2 Nonsynonymous SNV M32I 0.016 0.026 0.034 1 19 10 0.003 10 0 0 0 0 19.57 35601 chr20 42939750 42939750 T C rs6073401 FITM2 Synonymous SNV G13G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.192 35602 chr1 117659352 117659352 C T rs3738413 TRIM45 Nonsynonymous SNV R395Q 0.114 0.115 0.082 30 134 44 0.077 24 12 3 3 0 27.4 35603 chr10 8100599 8100599 C T rs35508267 GATA3 Synonymous SNV P191P 0.016 0.016 0.031 9 19 6 0.023 9 1 0 0 0 Benign/Likely benign 15.8 35604 chr20 42965841 42965841 T G rs11699901 R3HDML Nonsynonymous SNV F15C 0.14 0.146 0.122 46 164 56 0.118 36 12 4 6 6 15.08 35605 chr19 56041421 56041421 G A rs538903190 SBK2 Synonymous SNV P242P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.44 35606 chr10 8100647 8100647 C T rs2229359 GATA3 Synonymous SNV A207A 0.042 0.044 0.027 10 49 17 0.026 8 0 1 0 1 Benign 14.07 35607 chr1 1178245 1178245 C T rs11260566 C1QTNF12 Synonymous SNV T260T 0.092 0.07 0.075 44 108 27 0.113 22 3 0 1 3 8.929 35608 chr20 42966025 42966025 T C rs1884612 R3HDML Synonymous SNV S76S 0.316 0.367 0.323 131 371 141 0.336 95 62 35 21 25 0.055 35609 chr1 1178482 1178482 A G rs78555129 C1QTNF12 Nonsynonymous SNV C231R 0.08 0.068 0.071 43 94 26 0.11 21 3 0 1 3 0.007 35610 chr1 109338861 109338861 G C rs1127635 STXBP3 Synonymous SNV L372L 0.337 0.299 0.354 139 396 115 0.356 104 97 27 25 31 7.955 35611 chr20 42973935 42973935 T C rs11697359 R3HDML Synonymous SNV C182C 0.157 0.151 0.119 52 184 58 0.133 35 14 4 5 7 0.487 35612 chr20 43252915 43252915 T C rs244076 ADA Synonymous SNV V43V 0.183 0.188 0.197 71 215 72 0.182 58 19 3 6 9 Benign 8.724 35613 chr20 43255220 43255220 T C rs11555566 ADA Nonsynonymous SNV K80R 0.098 0.065 0.088 37 115 25 0.095 26 5 0 1 3 Benign/Likely benign 10.19 35614 chr1 1178925 1178925 G A rs12093154 C1QTNF12 Nonsynonymous SNV A180V 0.085 0.065 0.061 41 100 25 0.105 18 3 0 1 3 23.3 35615 chr19 9009305 9009305 G A rs763995420 MUC16 Synonymous SNV V13056V 0.178 0.143 0 55 209 55 0.141 0 0 0 0 0 5.885 35616 chr19 9009325 9009325 A T rs750295511 MUC16 Nonsynonymous SNV L13050M 0.153 0.146 0 46 180 56 0.118 0 0 0 0 0 0.033 35617 chr20 43264927 43264927 C T rs394105 ADA Synonymous SNV V12V 1 1 0.993 389 1174 384 0.997 292 587 192 145 194 Benign 7.16 35618 chr1 1179800 1179800 G A rs115586508 C1QTNF12 Synonymous SNV G85G 0.014 0.016 0.003 7 17 6 0.018 1 0 0 0 1 7.305 35619 chr20 43348735 43348735 C A rs2296530 CCN5 Synonymous SNV G86G 0.269 0.245 0.272 112 316 94 0.287 80 40 15 6 10 8.628 35620 chr19 9009331 9009331 C T rs376668718 MUC16 Nonsynonymous SNV G13048S 0.154 0.133 0 52 181 51 0.133 0 0 0 0 0 16.08 35621 chr20 43530234 43530234 A C rs4931 YWHAB Synonymous SNV R20R 0.385 0.354 0.395 118 452 136 0.303 116 87 27 25 19 0.813 35622 chr20 43629135 43629135 G A rs17420378 STK4 Nonsynonymous SNV V312M 0.358 0.357 0.401 135 420 137 0.346 118 73 20 23 22 22.7 35623 chr1 109394976 109394976 G A rs17621411 AKNAD1 Nonsynonymous SNV A104V 0.033 0.018 0.027 14 39 7 0.036 8 0 0 0 0 1.895 35624 chr19 6141593 6141593 T A rs79266675 ACSBG2 Nonsynonymous SNV D13E 0.021 0.013 0.041 5 25 5 0.013 12 0 0 0 0 0.484 35625 chr20 43723627 43723627 T C rs734784 KCNS1 Nonsynonymous SNV I489V 0.442 0.466 0.432 189 519 179 0.485 127 117 43 27 49 0.002 35626 chr20 43727155 43727155 C T rs13043825 KCNS1 Synonymous SNV E86E 0.266 0.266 0.224 119 312 102 0.305 66 44 20 9 20 13.37 35627 chr20 43926573 43926573 C T rs2227275 MATN4 Nonsynonymous SNV G440S 0.235 0.229 0.173 85 276 88 0.218 51 32 11 4 8 19.59 35628 chr1 109649162 109649162 G A rs62623711 C1orf194 Nonsynonymous SNV S106F 0.04 0.047 0.051 13 47 18 0.033 15 1 1 1 0 28 35629 chr20 43933021 43933021 G T rs2072788 MATN4 Nonsynonymous SNV R164S 0.311 0.292 0.303 120 365 112 0.308 89 64 15 12 23 11.8 35630 chr10 11912181 11912181 G A rs200622168 PROSER2 Nonsynonymous SNV A362T 0 0 0 0 0 0 0 0 0 0 0 0 0.13 35631 chr19 9019295 9019295 A G rs377069963 MUC16 Nonsynonymous SNV F12531S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.233 35632 chr20 43933163 43933163 T C rs2233094 MATN4 Synonymous SNV A116A 0.312 0.292 0.303 120 366 112 0.308 89 65 15 12 23 3.462 35633 chr20 43976991 43976991 A G rs2228384 SDC4 Nonsynonymous SNV F12L 0.444 0.445 0.384 181 521 171 0.464 113 113 32 27 35 13.77 35634 chr1 10689942 10689942 G T rs11539794 PEX14 Synonymous SNV G344G 0.231 0.206 0.221 88 271 79 0.226 65 33 9 8 8 Benign 0.651 35635 chr20 44004156 44004158 ATT - rs10546815 TP53TG5 N97del 0.642 0.656 0.626 228 754 252 0.585 184 238 88 64 63 35636 chr1 107599918 107599918 C T rs2232016 PRMT6 Nonsynonymous SNV A194V 0.173 0.208 0.173 73 203 80 0.187 51 15 8 5 7 31 35637 chr20 44038574 44038574 A G rs1127497 DBNDD2 Nonsynonymous SNV M196V 0.764 0.763 0.806 278 897 293 0.713 237 341 116 98 99 12.13 35638 chr9 117792583 117792583 C G rs13321 TNC Nonsynonymous SNV E2008Q 0.664 0.646 0.65 272 780 248 0.697 191 249 82 57 96 8.929 35639 chr1 11835556 11835556 C T rs41275456 C1orf167 Nonsynonymous SNV R685C 0.065 0.057 0.054 25 76 22 0.064 16 3 0 0 0 23.9 35640 chr20 44052992 44052992 G A rs13217 PIGT Synonymous SNV T355T 0.467 0.484 0.476 160 548 186 0.41 140 134 48 36 30 14.28 35641 chr20 44054349 44054349 T C rs707577 PIGT Synonymous SNV Y438Y 0.772 0.786 0.779 276 906 302 0.708 229 353 121 89 99 Benign 0.038 35642 chr9 117797597 117797597 T C rs12347433 TNC Synonymous SNV R1891R 0.241 0.216 0.252 80 283 83 0.205 74 38 12 10 6 3.58 35643 chr20 44238741 44238741 T G rs2245898 WFDC9 Nonsynonymous SNV N27T 0.371 0.385 0.354 147 435 148 0.377 104 81 28 15 30 0.001 35644 chr9 117808785 117808785 T A rs2104772 TNC Nonsynonymous SNV I1677L 0.474 0.445 0.534 201 557 171 0.515 157 142 40 41 54 17.21 35645 chr1 11836670 11836670 C A rs41275458 C1orf167 Synonymous SNV R772R 0.057 0.057 0.041 24 67 22 0.062 12 3 0 0 0 12.73 35646 chr20 44314609 44314609 A G rs232729 WFDC10B Nonsynonymous SNV L8P 0.613 0.599 0.646 247 720 230 0.633 190 227 66 58 76 2.945 35647 chr9 117835899 117835899 C T rs1138545 TNC Nonsynonymous SNV R1066H 0.095 0.107 0.102 54 111 41 0.138 30 5 2 0 7 17.19 35648 chr19 651770 651770 G A rs770206476 RNF126 Nonsynonymous SNV T95M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.06 35649 chr20 44352620 44352620 G A rs6017667 SPINT4 Nonsynonymous SNV G73S 0.441 0.435 0.466 178 518 167 0.456 137 119 32 31 39 26.6 35650 chr19 9006749 9006749 C T rs75444444 MUC16 Nonsynonymous SNV V13167M 0.278 0.286 0.282 112 326 110 0.287 83 43 13 13 12 13.68 35651 chr19 9047468 9047468 G A rs201448267 MUC16 Nonsynonymous SNV T11388I 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 7.536 35652 chr1 11838762 11838762 G A rs72640211 C1orf167 Synonymous SNV L795L 0.04 0.036 0.031 13 47 14 0.033 9 2 0 0 0 5.978 35653 chr20 44596207 44596207 C G rs6032606 ZNF335 Nonsynonymous SNV S294T 0.947 0.958 0.901 371 1112 368 0.951 265 529 177 120 176 Likely benign 9.247 35654 chr9 117848201 117848201 T C rs3827815 TNC Synonymous SNV Q603Q 0.152 0.125 0.187 58 178 48 0.149 55 15 4 7 3 0.001 35655 chr1 11838841 11838841 A G rs56001051 C1orf167 Nonsynonymous SNV S822G 0.065 0.057 0.058 25 76 22 0.064 17 3 0 0 0 5.118 35656 chr20 44642406 44642406 G C rs2250889 MMP9 Nonsynonymous SNV R574P 0.963 0.953 0.932 371 1130 366 0.951 274 543 174 128 176 Benign 15.04 35657 chr20 44642833 44642833 A C rs13969 MMP9 Synonymous SNV G607G 0.648 0.63 0.48 243 761 242 0.623 141 247 76 54 76 Benign 14.15 35658 chr1 11839009 11839009 C T rs55685198 C1orf167 Synonymous SNV D841D 0.065 0.057 0.051 25 76 22 0.064 15 3 0 0 0 2.628 35659 chr20 44678348 44678348 G A rs6032635 SLC12A5 Synonymous SNV A723A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.83 35660 chr20 44680412 44680412 C T rs3746522 SLC12A5 Synonymous SNV S783S 0.28 0.24 0.262 101 329 92 0.259 77 47 14 11 12 17.71 35661 chr1 109810544 109810544 C A rs2281894 CELSR2 Synonymous SNV R2060R 0.153 0.161 0.153 58 180 62 0.149 45 10 6 2 5 18.76 35662 chr9 118949583 118949583 G A rs374109701 PAPPA Nonsynonymous SNV R189H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 17.92 35663 chr20 44996182 44996182 A G rs2257495 ELMO2 Synonymous SNV D660D 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.278 35664 chr1 11839034 11839034 G A rs55967531 C1orf167 Nonsynonymous SNV A850T 0.065 0.057 0.051 25 76 22 0.064 15 3 0 0 0 20.6 35665 chr20 45170213 45170213 A G rs847078 OCSTAMP Synonymous SNV S467S 0.096 0.096 0.092 35 113 37 0.09 27 6 5 2 0 1.518 35666 chr9 118949976 118949976 C A PAPPA Nonsynonymous SNV T320K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.4 35667 chr20 45174026 45174026 A C rs202396 OCSTAMP Synonymous SNV A329A 0.135 0.128 0.133 50 158 49 0.128 39 10 9 4 2 0.192 35668 chr20 45204266 45204266 G A rs1880898 SLC13A3 Synonymous SNV P376P 0.597 0.625 0.626 257 701 240 0.659 184 205 73 61 84 12.57 35669 chr9 119065043 119065043 C T rs35565319 PAPPA Synonymous SNV P987P 0.051 0.034 0.061 16 60 13 0.041 18 3 0 0 1 14.39 35670 chr1 11839201 11839201 T A rs41307759 C1orf167-AS1 0.065 0.057 0.007 25 76 22 0.064 2 3 0 0 0 5.867 35671 chr20 45315769 45315769 T C rs11550540 TP53RK Nonsynonymous SNV T129A 0.059 0.049 0.048 15 69 19 0.038 14 5 0 0 0 0.004 35672 chr1 11839226 11839226 A G rs41307757 C1orf167-AS1 0.04 0.036 0.003 13 47 14 0.033 1 2 0 0 0 3.309 35673 chr1 11839923 11839923 C T rs12561919 C1orf167 Nonsynonymous SNV R906W 0.087 0.091 0.041 45 102 35 0.115 12 5 3 0 3 16.17 35674 chr19 6156510 6156510 A G rs33937754 ACSBG2 Nonsynonymous SNV K152R 0.147 0.146 0.112 57 173 56 0.146 33 7 3 1 4 11.79 35675 chr20 45717954 45717954 C T rs866937 EYA2 Synonymous SNV D246D 0.311 0.284 0.333 105 365 109 0.269 98 51 13 14 14 14.26 35676 chr20 45853037 45853037 A G rs2664544 ZMYND8 Synonymous SNV T911T 0.871 0.839 0.844 328 1023 322 0.841 248 445 137 105 135 5.352 35677 chr20 46279837 46279839 CAG - rs147879509 NCOA3 Q1275del 0.401 0.419 0.381 147 471 161 0.377 112 94 36 24 25 35678 chr10 13639490 13639490 C T rs2502213 PRPF18 Synonymous SNV L33L 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 12.82 35679 chr20 46365571 46365571 A G rs3810526 SULF2 Synonymous SNV T97T 0.658 0.648 0.643 219 773 249 0.562 189 249 88 63 59 5.771 35680 chr20 4705719 4705719 G A rs45475194 PRND Synonymous SNV T174T 0.029 0.021 0.01 9 34 8 0.023 3 0 0 0 0 8.791 35681 chr1 11008497 11008497 G C rs1281017 C1orf127 Synonymous SNV G426G 0.236 0.19 0.248 87 277 73 0.223 73 33 8 9 8 0.361 35682 chr20 47253150 47253150 T C rs2664521 PREX1 Nonsynonymous SNV K1340E 0.991 0.984 0.986 387 1164 378 0.992 290 577 186 143 192 13.06 35683 chr1 11842316 11842316 G A rs577360732 C1orf167 Synonymous SNV V977V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 4.491 35684 chr9 121971069 121971069 C T rs17476783 BRINP1 Nonsynonymous SNV R358H 0.011 0.026 0.027 10 13 10 0.026 8 0 0 0 0 24.3 35685 chr1 11008695 11008695 T C rs17036032 C1orf127 Synonymous SNV P360P 0.195 0.159 0.207 73 229 61 0.187 61 23 5 7 5 0.262 35686 chr20 47258763 47258763 C T rs16993997 PREX1 Nonsynonymous SNV V1240I 0.289 0.336 0.252 115 339 129 0.295 74 41 22 15 19 15.66 35687 chr1 11014118 11014118 C T rs45537241 C1orf127 Nonsynonymous SNV A214T 0.204 0.185 0.207 76 239 71 0.195 61 27 6 7 6 10.86 35688 chr20 47261017 47261017 T C rs6066802 PREX1 Synonymous SNV R1177R 0.383 0.393 0.32 153 450 151 0.392 94 78 26 19 35 5.544 35689 chr1 11845222 11845222 T C rs55867221 C1orf167 Nonsynonymous SNV V1148A 0.064 0.052 0.054 25 75 20 0.064 16 3 0 0 0 0.003 35690 chr20 47267480 47267480 A G rs41283556 PREX1 Synonymous SNV C923C 0.286 0.333 0.252 115 336 128 0.295 74 41 21 15 19 1.651 35691 chr20 47267940 47267940 G A rs61748372 PREX1 Synonymous SNV T883T 0.286 0.333 0.252 114 336 128 0.292 74 41 21 15 19 13.64 35692 chr20 47269233 47269233 C G rs41283558 PREX1 Nonsynonymous SNV Q786H 0.285 0.333 0.19 115 335 128 0.295 56 41 21 11 19 18.59 35693 chr1 11848068 11848068 G C rs1537514 C1orf167 Nonsynonymous SNV C1271S 0.065 0.057 0.058 25 76 22 0.064 17 3 0 0 0 Likely benign 10.16 35694 chr1 11015165 11015165 A G rs75130475 C1orf127 Nonsynonymous SNV I147T 0.204 0.185 0.207 77 239 71 0.197 61 27 6 7 6 0.039 35695 chr20 47273726 47273726 C T rs55904123 PREX1 Nonsynonymous SNV V659M 0.286 0.333 0.252 115 336 128 0.295 74 41 21 15 19 0.018 35696 chr20 47626847 47626847 T C rs2295580 ARFGEF2 Synonymous SNV G1221G 0.296 0.281 0.248 120 347 108 0.308 73 61 18 8 18 Benign 2.792 35697 chr20 47685320 47685320 G C rs2227946 CSE1L Synonymous SNV L212L 0.188 0.161 0.133 67 221 62 0.172 39 20 8 3 7 9.54 35698 chr9 123688217 123688217 G A rs34119250 TRAF1 Nonsynonymous SNV P46L 0.052 0.031 0.065 20 61 12 0.051 19 3 0 1 0 10.36 35699 chr20 47841660 47841660 G T rs11553387 DDX27 Nonsynonymous SNV G206V 0.178 0.146 0.139 63 209 56 0.162 41 15 5 4 6 16.86 35700 chr20 47850182 47850182 C T rs238148 DDX27 Synonymous SNV F434F 0.764 0.766 0.738 283 897 294 0.726 217 341 115 80 102 15.78 35701 chr9 123716103 123716103 T C rs41258306 C5 Synonymous SNV K1608K 0.061 0.044 0.068 26 72 17 0.067 20 3 0 1 0 Benign 0.011 35702 chr1 11854896 11854896 G A rs2066462 MTHFR Synonymous SNV S393S 0.062 0.052 0.058 23 73 20 0.059 17 3 0 0 0 Benign 15.07 35703 chr1 109824250 109824250 G A rs35358959 PSRC1 Synonymous SNV N170N 0.051 0.063 0.034 20 60 24 0.051 10 0 0 0 0 7.989 35704 chr20 47865372 47865372 G A rs238208 ZNFX1 Synonymous SNV L1397L 0.848 0.846 0.82 320 996 325 0.821 241 422 137 100 128 0.003 35705 chr9 123725926 123725926 T G rs17612 C5 Nonsynonymous SNV E1443D 0.061 0.044 0.068 26 72 17 0.067 20 3 0 1 0 Benign 13.05 35706 chr20 47865509 47865509 G A rs238209 ZNFX1 Nonsynonymous SNV T1351I 0.764 0.766 0.741 284 897 294 0.728 218 341 115 81 103 0.106 35707 chr1 11863057 11863057 G A rs2066470 MTHFR Synonymous SNV P80P 0.058 0.049 0.054 21 68 19 0.054 16 3 0 0 0 Benign 12.98 35708 chr20 47865784 47865784 C T rs6512577 ZNFX1 Nonsynonymous SNV M1259I 0.18 0.146 0.146 67 211 56 0.172 43 15 5 5 7 0.001 35709 chr9 123769200 123769200 C T rs17611 C5 Nonsynonymous SNV V808I 0.458 0.464 0.449 191 538 178 0.49 132 127 38 29 41 Benign 18.88 35710 chr19 56538832 56538832 C T rs1808663 NLRP5 Synonymous SNV D411D 0.057 0.076 0.092 19 67 29 0.049 27 1 0 0 1 10.28 35711 chr19 56549448 56549448 G A rs45624737 NLRP5 Synonymous SNV T891T 0.014 0.016 0.014 5 16 6 0.013 4 0 0 0 0 Benign 8.436 35712 chr9 123780005 123780005 G A rs25681 C5 Synonymous SNV Y550Y 0.459 0.458 0.449 191 539 176 0.49 132 127 37 29 41 Benign 8.316 35713 chr20 47872377 47872377 C G rs238221 ZNFX1 Nonsynonymous SNV Q924H 0.76 0.75 0.731 280 892 288 0.718 215 338 110 78 100 23.8 35714 chr1 109840169 109840169 C T rs76186504 MYBPHL Nonsynonymous SNV R102Q 0.016 0.016 0.007 1 19 6 0.003 2 0 0 0 0 25.5 35715 chr1 11918422 11918422 G A rs35690395 NPPB Synonymous SNV S79S 0.017 0.013 0.01 4 20 5 0.01 3 0 0 0 0 Benign 3.178 35716 chr20 47874005 47874005 A G rs3021 ZNFX1 Synonymous SNV H871H 0.179 0.146 0.139 67 210 56 0.172 41 15 5 5 7 0.005 35717 chr1 119575818 119575818 C G rs3790549 WARS2 Nonsynonymous SNV A267P 0.06 0.049 0.075 22 70 19 0.056 22 0 1 0 0 22.8 35718 chr19 6735929 6735929 C T rs11539588 GPR108 Nonsynonymous SNV R94H 0.041 0.031 0.037 14 48 12 0.036 11 0 0 0 0 6.417 35719 chr19 9068990 9068990 G T rs35092547 MUC16 Nonsynonymous SNV H6152Q 0.05 0.049 0.044 20 59 19 0.051 13 0 0 0 0 0.023 35720 chr20 47886684 47886684 G A rs57950 ZNFX1 Synonymous SNV Y555Y 0.848 0.846 0.82 320 996 325 0.821 241 422 137 100 128 0.425 35721 chr20 48257149 48257149 C T rs421801 B4GALT5 Synonymous SNV E220E 0.835 0.823 0.844 323 980 316 0.828 248 417 133 104 134 13.91 35722 chr1 109897100 109897100 T C rs72646560 SORT1 Synonymous SNV R63R 0.03 0.031 0.024 3 35 12 0.008 7 0 0 0 0 10.93 35723 chr20 48259034 48259034 A G rs2235855 B4GALT5 Synonymous SNV L193L 0.582 0.581 0.531 223 683 223 0.572 156 202 66 43 63 7.831 35724 chr9 123860689 123860689 C T rs10818504 CNTRL Nonsynonymous SNV P216L 0.453 0.451 0.432 183 532 173 0.469 127 126 37 28 36 24.1 35725 chr1 12009911 12009911 G A rs34878020 PLOD1 Nonsynonymous SNV A84T 0.02 0.01 0.024 6 24 4 0.015 7 0 0 0 0 Benign/Likely benign 23.1 35726 chr20 48273174 48273174 C T rs2273086 B4GALT5 Nonsynonymous SNV G61S 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 34 35727 chr1 110019439 110019439 A G rs62623713 SYPL2 Nonsynonymous SNV E99G 0.03 0.034 0.024 3 35 13 0.008 7 0 0 0 0 6.823 35728 chr1 110709734 110709734 G A rs41281364 SLC6A17 Synonymous SNV P61P 0.085 0.081 0.085 33 100 31 0.085 25 4 2 5 2 14.01 35729 chr9 123917020 123917020 T A rs3736855 CNTRL Synonymous SNV V846V 0.456 0.458 0.446 190 535 176 0.487 131 128 38 30 39 10.21 35730 chr20 4843470 4843470 C A rs34073337 SLC23A2 Synonymous SNV A480A 0.124 0.161 0.15 53 145 62 0.136 44 9 9 4 3 15.37 35731 chr19 6759676 6759676 C G rs142658713 SH2D3A Nonsynonymous SNV R142T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 35732 chr1 12009956 12009956 G A rs7551175 PLOD1 Nonsynonymous SNV A99T 0.148 0.122 0.133 48 174 47 0.123 39 13 1 1 3 Benign 12.95 35733 chr20 48491258 48491258 T G rs542234 SLC9A8 Synonymous SNV L341L 0.79 0.823 0.823 299 928 316 0.767 242 364 128 100 114 6.729 35734 chr20 48522330 48522330 G A rs495337 SPATA2 Synonymous SNV C463C 0.335 0.344 0.367 139 393 132 0.356 108 60 18 21 26 2.107 35735 chr1 120166201 120166201 G A rs187090148 ZNF697 Synonymous SNV P255P 0.014 0.01 0.024 4 17 4 0.01 7 2 0 0 0 0.002 35736 chr20 48522585 48522585 G A rs492702 SPATA2 Synonymous SNV S378S 0.398 0.411 0.405 162 467 158 0.415 119 87 30 27 32 7.047 35737 chr20 48524827 48524827 A G rs2769982 SPATA2 Synonymous SNV Y67Y 0.397 0.411 0.401 163 466 158 0.418 118 87 30 27 33 0.09 35738 chr20 4854682 4854682 A G rs1110277 SLC23A2 Synonymous SNV D334D 0.362 0.326 0.384 148 425 125 0.379 113 78 22 21 25 0.007 35739 chr19 9071916 9071916 G A rs35346115 MUC16 Nonsynonymous SNV T5177I 0.05 0.049 0.044 20 59 19 0.051 13 0 0 0 0 0.178 35740 chr20 48746189 48746189 C T rs6122878 TMEM189, TMEM189-UBE2V1 Synonymous SNV P121P 0.336 0.286 0.313 117 395 110 0.3 92 66 9 20 19 18.17 35741 chr20 48770159 48770159 T C rs232733 TMEM189, TMEM189-UBE2V1 Nonsynonymous SNV N6D 0.998 1 0.915 387 1172 384 0.992 269 586 192 134 193 0.005 35742 chr1 120436751 120436751 T C rs35273427 ADAM30 Nonsynonymous SNV T737A 0.089 0.07 0.051 44 105 27 0.113 15 1 1 0 3 0.001 35743 chr19 687078 687078 G A rs72618587 PRSS57 Synonymous SNV F163F 0.047 0.063 0.068 14 55 24 0.036 20 1 1 2 1 11.55 35744 chr1 110950277 110950277 G A rs6698159 LAMTOR5 Nonsynonymous SNV P71L 0.123 0.13 0.102 51 144 50 0.131 30 7 2 2 2 0.057 35745 chr19 7534857 7534857 G A rs111706888 ARHGEF18 Synonymous SNV R1043R 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 Benign 2.066 35746 chr20 4880308 4880308 G A rs1776964 SLC23A2 Synonymous SNV A125A 0.452 0.466 0.425 177 531 179 0.454 125 123 37 27 47 12.56 35747 chr9 125273385 125273385 - T rs145911830 OR1J2 Frameshift insertion I105Yfs*5 0.135 0.117 0.163 46 158 45 0.118 48 8 3 2 3 35748 chr19 687112 687112 G A rs72618588 PRSS57 Nonsynonymous SNV A152V 0.047 0.063 0.068 14 55 24 0.036 20 1 1 2 1 7.615 35749 chr19 9065094 9065094 A C rs201455232 MUC16 Nonsynonymous SNV L7451W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.004 35750 chr20 48808011 48808011 C T rs4253439 CEBPB Synonymous SNV A124A 0.435 0.44 0.415 179 511 169 0.459 122 115 35 24 40 13.88 35751 chr9 125289521 125289521 G A rs10818708 OR1N1 Nonsynonymous SNV P18S 0.516 0.503 0.517 200 606 193 0.513 152 151 53 39 52 0.058 35752 chr20 49509184 49509184 G A rs17790938 ADNP Synonymous SNV G689G 0.087 0.057 0.099 40 102 22 0.103 29 8 1 2 1 Benign 8.732 35753 chr20 49620783 49620783 G T rs1054268 KCNG1 Synonymous SNV I445I 0.874 0.88 0.874 336 1026 338 0.862 257 447 150 115 142 6.032 35754 chr1 120437884 120437884 A G rs2641348 ADAM30 Nonsynonymous SNV L359P 0.107 0.091 0.078 52 126 35 0.133 23 5 2 1 5 0.07 35755 chr9 125289522 125289522 C T rs13287449 OR1N1 Synonymous SNV A17A 0.014 0.008 0.02 7 17 3 0.018 6 0 0 0 0 11.91 35756 chr20 49621149 49621149 T C rs6122993 KCNG1 Synonymous SNV A323A 0.878 0.88 0.874 337 1031 338 0.864 257 451 150 115 143 0.039 35757 chr9 125316028 125316028 T C rs41297203 OR1N2 Nonsynonymous SNV F180L 0.134 0.115 0.153 46 157 44 0.118 45 9 3 2 3 23.6 35758 chr1 120458004 120458004 A T rs6685892 NOTCH2 Synonymous SNV G2447G 0.108 0.091 0.085 51 127 35 0.131 25 5 2 1 5 Benign 0.011 35759 chr20 50092027 50092027 T G rs6013193 NFATC2 Synonymous SNV I481I 0.483 0.542 0.49 215 567 208 0.551 144 140 53 35 66 10.62 35760 chr1 12082334 12082334 A T rs11553925 MIIP Nonsynonymous SNV K99N 0.19 0.195 0.17 76 223 75 0.195 50 22 6 4 5 21.2 35761 chr20 50287736 50287736 C T rs2255341 ATP9A Synonymous SNV S366S 0.587 0.523 0.633 221 689 201 0.567 186 212 52 63 67 11.47 35762 chr20 50287790 50287790 A G rs2255342 ATP9A Synonymous SNV R348R 0.842 0.828 0.83 320 989 318 0.821 244 418 130 101 132 0.025 35763 chr1 12082461 12082461 C T rs11588712 MIIP Nonsynonymous SNV P142S 0.102 0.096 0.088 38 120 37 0.097 26 6 1 2 2 8.937 35764 chr20 50408482 50408482 A G rs6013281 SALL4 Synonymous SNV N180N 0.993 0.997 0.993 384 1166 383 0.985 292 579 191 145 189 Benign 0.003 35765 chr19 9083791 9083791 G A rs60106152 MUC16 Nonsynonymous SNV S2675L 0.107 0.117 0.15 38 126 45 0.097 44 3 3 4 3 0.022 35766 chr9 125316240 125316240 G A rs71511510 OR1N2 Synonymous SNV V250V 0.014 0.008 0.02 7 17 3 0.018 6 0 0 0 0 7.263 35767 chr20 50769183 50769183 G A rs3746415 ZFP64 Synonymous SNV A462A 0.179 0.188 0.146 65 210 72 0.167 43 21 8 1 3 1.97 35768 chr1 11114935 11114935 T C SRM Nonsynonymous SNV N299S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.23 35769 chr20 50769379 50769379 C T rs3746414 ZFP64 Nonsynonymous SNV S397N 0.179 0.188 0.153 65 210 72 0.167 45 21 8 2 3 0.001 35770 chr20 50769549 50769549 A G rs3746413 ZFP64 Synonymous SNV H340H 0.179 0.188 0.153 65 210 72 0.167 45 21 8 2 3 0.005 35771 chr20 50781298 50781298 - AA rs200059978 ZFP64 0.148 0.185 0.17 63 174 71 0.162 50 28 12 3 10 35772 chr20 51870849 51870849 T C rs739870 TSHZ2 Synonymous SNV F281F 0.684 0.651 0.697 237 803 250 0.608 205 272 83 71 80 0.73 35773 chr20 52561469 52561469 A G rs1055246 BCAS1 Nonsynonymous SNV S491P 0.134 0.13 0.153 69 157 50 0.177 45 9 1 2 4 24.8 35774 chr19 9085958 9085958 A G rs1108380 MUC16 Nonsynonymous SNV S1953P 0.107 0.117 0.15 38 126 45 0.097 44 3 3 4 3 11.09 35775 chr1 1115510 1115510 C T rs114359609 TTLL10 Nonsynonymous SNV P26L 0.013 0.013 0.007 0 15 5 0 2 0 0 0 0 12.39 35776 chr20 52573971 52573971 T G rs35575210 BCAS1 Nonsynonymous SNV Q458H 0.193 0.182 0.221 75 226 70 0.192 65 23 5 7 7 18.9 35777 chr9 125377734 125377734 A G rs727913 OR1Q1 Nonsynonymous SNV T240A 0.062 0.047 0.048 28 73 18 0.072 14 2 0 0 1 28.5 35778 chr1 1222963 1222963 C T rs74735644 SCNN1D Synonymous SNV P462P 0.018 0.021 0.007 12 21 8 0.031 2 0 1 0 0 9.232 35779 chr20 52675188 52675188 G T rs394732 BCAS1 Nonsynonymous SNV Q24K 0.256 0.344 0.33 138 300 132 0.354 97 61 29 21 31 0.002 35780 chr1 1226690 1226690 C T rs114720027 SCNN1D Synonymous SNV S703S 0.014 0.013 0.003 8 16 5 0.021 1 0 0 0 1 12.16 35781 chr19 9086145 9086145 G C rs45611441 MUC16 Nonsynonymous SNV N1890K 0.106 0.112 0.136 38 125 43 0.097 40 3 3 3 3 1.292 35782 chr1 11090897 11090897 A G rs2273346 MASP2 Nonsynonymous SNV V377A 0.041 0.039 0.034 9 48 15 0.023 10 0 1 0 0 Benign 1.4 35783 chr1 111778760 111778760 C A rs180927880 CHI3L2 Nonsynonymous SNV S230R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.88 35784 chr20 52775528 52775528 C T rs2296239 CYP24A1 Synonymous SNV P375P 0.196 0.19 0.167 91 230 73 0.233 49 17 7 2 10 Benign 15.03 35785 chr1 12429611 12429611 C T rs2295338 VPS13D Synonymous SNV D3529D 0.042 0.026 0.034 12 49 10 0.031 10 2 0 0 0 16.15 35786 chr20 52781091 52781091 C T rs6068816 CYP24A1 Synonymous SNV T248T 0.13 0.128 0.119 61 153 49 0.156 35 10 3 2 6 Benign 17.17 35787 chr20 52786219 52786219 G A rs2296241 CYP24A1 Synonymous SNV A184A 0.543 0.542 0.571 206 637 208 0.528 168 174 54 51 48 Benign 15.23 35788 chr20 5283039 5283039 G A rs78861628 PROKR2 Nonsynonymous SNV R268C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign/Likely benign 32 35789 chr19 6928269 6928269 A T rs140779395 ADGRE1 Nonsynonymous SNV E727V 0.026 0.01 0.027 11 31 4 0.028 8 0 0 1 0 4.058 35790 chr20 54961463 54961463 T C rs1047972 AURKA Nonsynonymous SNV I57V 0.803 0.818 0.776 299 943 314 0.767 228 387 127 90 118 0.001 35791 chr19 7056537 7056537 G A rs1651755 MBD3L3 Synonymous SNV P141P 0.017 0 0 1 20 0 0.003 0 0 0 0 0 0.196 35792 chr19 9090182 9090182 T C rs17000957 MUC16 Nonsynonymous SNV T545A 0.107 0.117 0.15 38 126 45 0.097 44 3 3 4 3 0.016 35793 chr1 11181327 11181327 C T rs11121691 MTOR Synonymous SNV L2303L 0.241 0.201 0.235 100 283 77 0.256 69 35 6 10 17 Benign 16.38 35794 chr10 21102896 21102896 A C NEBL Nonsynonymous SNV V773G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.5 35795 chr20 55028167 55028167 G A rs2870738 CASS4 Synonymous SNV R591R 0.316 0.396 0.449 108 371 152 0.277 132 63 33 28 18 2.788 35796 chr19 7056571 7056571 G T rs111605618 MBD3L3 Nonsynonymous SNV A130D 0.046 0.031 0.01 16 54 12 0.041 3 4 2 1 3 12.6 35797 chr20 55033476 55033476 C G rs3746623 CASS4 Synonymous SNV L241L 0.363 0.438 0.456 124 426 168 0.318 134 65 36 29 19 10.34 35798 chr1 11097867 11097867 C T rs12142107 MASP2 Synonymous SNV A297A 0.044 0.039 0.034 9 52 15 0.023 10 0 1 0 0 Benign 9.333 35799 chr19 57326970 57326970 T C rs35851866 PEG3 Nonsynonymous SNV N792S 0.037 0.029 0.027 17 43 11 0.044 8 0 0 0 0 0.012 35800 chr20 55033635 55033635 C T rs3746624 CASS4 Synonymous SNV N294N 0.356 0.427 0.446 124 418 164 0.318 131 63 33 28 19 11.02 35801 chr1 12640650 12640650 C T rs11540058 DHRS3 Synonymous SNV T80T 0.177 0.172 0.173 69 208 66 0.177 51 21 6 7 6 16.99 35802 chr19 7076457 7076457 T G rs142878848 ZNF557 Synonymous SNV P62P 0.006 0.003 0.024 1 7 1 0.003 7 1 0 0 0 0.497 35803 chr10 22002732 22002732 G A rs34551826 MLLT10 Synonymous SNV S577S 0.009 0.026 0 7 11 10 0.018 0 0 0 0 0 Benign 14.33 35804 chr1 111060300 111060300 C T rs45442396 KCNA10 Synonymous SNV A370A 0.013 0.023 0.027 3 15 9 0.008 8 0 1 0 0 8.635 35805 chr19 9090784 9090784 C T rs73495785 MUC16 Nonsynonymous SNV R344K 0.107 0.12 0.153 38 126 46 0.097 45 3 3 4 3 0.653 35806 chr20 55033647 55033647 T C rs3746625 CASS4 Synonymous SNV R298R 0.364 0.44 0.456 124 427 169 0.318 134 66 36 29 19 0.038 35807 chr1 111854889 111854889 A G rs41282492 CHIA Nonsynonymous SNV N45D 0.095 0.104 0.122 45 112 40 0.115 36 4 2 4 1 0.007 35808 chr20 55033713 55033713 G A rs3746626 CASS4 Synonymous SNV T320T 0.362 0.438 0.452 124 425 168 0.318 133 65 36 28 19 1.498 35809 chr20 55088404 55088404 A G rs1059768 RTF2 Nonsynonymous SNV M171V 0.734 0.781 0.776 288 862 300 0.738 228 312 119 87 103 7.934 35810 chr1 111854895 111854895 G A rs41282494 CHIA Nonsynonymous SNV D47N 0.095 0.104 0.122 45 112 40 0.115 36 4 2 4 1 26 35811 chr1 12704586 12704586 G A rs114844302 AADACL4 Synonymous SNV V7V 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 4.475 35812 chr1 11114940 11114940 G T rs13616 SRM Synonymous SNV A297A 0.043 0.039 0.017 9 50 15 0.023 5 0 1 0 0 10.75 35813 chr20 55108418 55108418 C T rs41311045 FAM209B Synonymous SNV S7S 0.063 0.055 0.082 24 74 21 0.062 24 2 0 1 2 9.735 35814 chr1 111854938 111854938 G T rs41282496 CHIA Nonsynonymous SNV R61M 0.095 0.104 0.122 45 111 40 0.115 36 4 2 4 1 5.309 35815 chr20 55108617 55108617 C A rs3209183 FAM209B Nonsynonymous SNV Q74K 0.591 0.565 0.582 219 694 217 0.562 171 207 60 50 62 0.007 35816 chr1 11137661 11137661 A G rs2273339 EXOSC10 Synonymous SNV A599A 0.047 0.042 0.044 9 55 16 0.023 13 0 1 0 0 6.408 35817 chr20 5559143 5559143 G A rs41282130 GPCPD1 Synonymous SNV F196F 0.074 0.104 0.095 27 87 40 0.069 28 2 2 2 2 11.24 35818 chr1 111861822 111861822 G A rs17027410 CHIA Synonymous SNV V171V 0.087 0.099 0.116 43 102 38 0.11 34 4 2 4 1 10.83 35819 chr20 55931594 55931594 C T rs1138386 RAE1 Synonymous SNV D96D 0.036 0.039 0.037 16 42 15 0.041 11 2 0 0 1 0.349 35820 chr1 1114668 1114668 G A rs6668667 TTLL10 Nonsynonymous SNV G25S 0.027 0.018 0.034 18 32 7 0.046 10 1 0 0 0 0.009 35821 chr20 56090807 56090807 A G rs6025601 CTCFL Synonymous SNV D119D 0.202 0.161 0.231 79 237 62 0.203 68 25 5 12 7 3.661 35822 chr20 56098733 56098733 T C rs6025606 CTCFL Nonsynonymous SNV T177A 0.687 0.659 0.697 285 806 253 0.731 205 277 81 69 104 0.001 35823 chr1 11150682 11150682 C T rs3737621 EXOSC10 Synonymous SNV E229E 0.047 0.042 0.044 9 55 16 0.023 13 0 1 0 0 16.16 35824 chr1 1334663 1334663 - GCC rs745352821 CCNL2 A8_G9insA 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35825 chr1 11159823 11159823 T C rs12133922 EXOSC10 Synonymous SNV G22G 0.047 0.042 0.041 9 55 16 0.023 12 0 1 0 0 5.391 35826 chr20 56136536 56136536 A G rs1042521 PCK1 Synonymous SNV L23L 0.548 0.508 0.527 217 643 195 0.556 155 175 49 41 62 Benign 11.91 35827 chr1 1361530 1361530 C T rs144957058 TMEM88B Nonsynonymous SNV T8M 0.064 0.07 0.014 31 75 27 0.079 4 5 2 0 1 12.64 35828 chr20 56137798 56137798 G A rs1062600 PCK1 Synonymous SNV S151S 0.496 0.479 0.483 193 582 184 0.495 142 142 46 34 46 Benign 10.42 35829 chr1 111862078 111862078 C T rs12094378 CHIA Synonymous SNV L228L 0.072 0.083 0.122 35 85 32 0.09 36 4 2 4 1 9.501 35830 chr20 56137807 56137807 A G rs1042523 PCK1 Synonymous SNV S154S 0.549 0.51 0.531 219 645 196 0.562 156 175 50 42 63 Benign 0.011 35831 chr9 125562527 125562527 T C rs10985782 OR1K1 Synonymous SNV G42G 0.18 0.177 0.112 63 211 68 0.162 33 21 8 0 5 0.016 35832 chr20 56137834 56137834 A G rs1062601 PCK1 Synonymous SNV S163S 0.549 0.51 0.531 219 645 196 0.562 156 175 50 42 63 Benign 0.008 35833 chr1 13802373 13802373 G A rs2940315 LRRC38 Nonsynonymous SNV L276F 0.028 0.039 0.01 17 33 15 0.044 3 0 0 0 2 12.19 35834 chr20 56137895 56137895 G C rs707555 PCK1 Nonsynonymous SNV V184L 0.878 0.857 0.857 341 1031 329 0.874 252 453 143 107 149 Benign 3.717 35835 chr1 111891192 111891192 C A rs2184884 PIFO Nonsynonymous SNV H72N 0.089 0.104 0.126 43 105 40 0.11 37 4 2 4 1 7.551 35836 chr20 56138178 56138178 C T rs28359544 PCK1 Synonymous SNV Y235Y 0.051 0.029 0.041 24 60 11 0.062 12 1 0 0 0 Likely benign 11.95 35837 chr19 8139977 8139977 G A rs61729621 FBN3 Synonymous SNV H2560H 0.089 0.052 0.037 28 105 20 0.072 11 6 1 0 0 8.814 35838 chr20 56138621 56138621 A G rs8192708 PCK1 Nonsynonymous SNV I267V 0.156 0.138 0.153 58 183 53 0.149 45 11 4 4 4 Benign 24.1 35839 chr19 9225595 9225595 G C rs201358548 OR7G1 Nonsynonymous SNV P282R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 22.5 35840 chr1 11190646 11190646 G A rs2275527 MTOR Synonymous SNV S1851S 0.24 0.198 0.235 100 282 76 0.256 69 35 6 10 17 Benign 14.01 35841 chr9 125652757 125652757 G A rs10818759 RC3H2 Synonymous SNV N139N 0.091 0.091 0.116 46 107 35 0.118 34 8 1 0 5 6.77 35842 chr1 1387764 1387764 G A rs9793256 ATAD3C Nonsynonymous SNV G58R 0.147 0.159 0.143 79 172 61 0.203 42 12 12 7 5 26 35843 chr1 111998734 111998734 A G rs151112830 ATP5PB Nonsynonymous SNV I84V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.25 35844 chr9 125797493 125797493 C T rs72753270 GPR21 Synonymous SNV R216R 0.022 0.021 0.02 5 26 8 0.013 6 2 0 0 0 8.723 35845 chr20 56139365 56139365 G A rs1804160 PCK1 Nonsynonymous SNV V368I 0.051 0.029 0.041 24 60 11 0.062 12 1 0 0 0 Likely benign 4.378 35846 chr19 8145928 8145928 C T rs3848570 FBN3 Nonsynonymous SNV R2471H 0.066 0.034 0.041 23 78 13 0.059 12 3 1 0 0 22.6 35847 chr1 1390875 1390875 C T rs1781147 ATAD3C Synonymous SNV D138D 0.187 0.169 0.18 93 219 65 0.238 53 19 13 10 5 11.6 35848 chr20 56139403 56139403 T C rs2070756 PCK1 Synonymous SNV G380G 0.722 0.719 0.711 284 848 276 0.728 209 301 100 74 106 Benign 0.004 35849 chr20 56186884 56186884 T C rs2865394 ZBP1 Nonsynonymous SNV Q183R 0.982 0.979 0.99 384 1153 376 0.985 291 566 184 144 189 0.001 35850 chr19 8159339 8159339 G C rs34167077 FBN3 Nonsynonymous SNV H1966D 0.11 0.102 0.109 32 129 39 0.082 32 9 2 2 1 12.44 35851 chr20 56190634 56190634 C T rs2073145 ZBP1 Nonsynonymous SNV E13K 0.666 0.659 0.694 258 782 253 0.662 204 252 79 74 89 5.808 35852 chr20 56227532 56227532 T C rs6025699 PMEPA1 Synonymous SNV P119P 0.712 0.711 0.643 289 836 273 0.741 189 303 99 67 105 0.018 35853 chr20 56793706 56793706 G A rs584855 ANKRD60 Nonsynonymous SNV R295C 0.899 0.919 0.918 346 1056 353 0.887 270 475 163 123 153 21.2 35854 chr20 56793764 56793764 G A rs1192511 ANKRD60 Synonymous SNV H275H 0.899 0.919 0.918 346 1056 353 0.887 270 475 163 123 153 1.373 35855 chr1 14107360 14107360 T A rs41269807 PRDM2 Nonsynonymous SNV S823T 0.048 0.044 0.034 18 56 17 0.046 10 3 0 0 0 Likely benign 13.75 35856 chr20 56803353 56803353 C T rs1192514 ANKRD60 Synonymous SNV R119R 0.245 0.266 0.279 98 288 102 0.251 82 31 15 11 8 20.3 35857 chr20 56807969 56807969 A G rs3818744 PPP4R1L 0 0 0.605 0 0 0 0 178 0 0 51 0 5.73 35858 chr19 984537 984537 A G rs61732720 WDR18 Nonsynonymous SNV I62V 0.152 0.148 0.139 60 178 57 0.154 41 12 9 5 5 24 35859 chr20 56820880 56820880 C T rs3746406 PPP4R1L 0 0 0.548 0 0 0 0 161 0 0 43 0 4.613 35860 chr20 56821127 56821127 A G rs3746405 PPP4R1L 0 0 0.531 0 0 0 0 156 0 0 41 0 1.068 35861 chr19 9271224 9271224 T G rs45608539 ZNF317 Synonymous SNV T269T 0.014 0.01 0.014 1 17 4 0.003 4 1 0 0 0 8.863 35862 chr20 57045667 57045667 T C rs1980576 APCDD1L Synonymous SNV T62T 0.385 0.391 0.395 156 452 150 0.4 116 88 33 25 29 4.846 35863 chr19 991129 991129 G A rs11538683 WDR18 Nonsynonymous SNV V264I 0.19 0.185 0.15 63 223 71 0.162 44 11 11 5 6 18.34 35864 chr9 126136139 126136139 C T rs73571431 CRB2 Nonsynonymous SNV T1110M 0.114 0.096 0.078 48 134 37 0.123 23 7 3 0 4 15.32 35865 chr20 57045765 57045765 A G rs3946003 APCDD1L Nonsynonymous SNV C30R 0.377 0.391 0.388 155 443 150 0.397 114 86 33 25 29 0.002 35866 chr20 57244493 57244493 G A rs2296524 STX16 Synonymous SNV Q176Q 0.555 0.555 0.507 231 651 213 0.592 149 177 60 42 63 Benign 11.77 35867 chr1 144921924 144921924 G A rs71664015 PDE4DIP Synonymous SNV L532L 0.171 0.198 0.146 61 201 76 0.156 43 0 0 0 0 Likely benign 12.44 35868 chr20 57266592 57266592 C G rs6128401 STX16-NPEPL1 0.353 0.307 0.31 124 414 118 0.318 91 72 18 11 22 3.714 35869 chr10 28032226 28032226 C T rs34439626 MKX Nonsynonymous SNV R40H 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Benign 23.8 35870 chr20 57266781 57266781 C T rs6128402 STX16-NPEPL1 0.175 0.12 0.333 72 205 46 0.185 98 62 13 12 19 1.253 35871 chr20 57268867 57268867 C A rs3746396 NPEPL1 Synonymous SNV T75T 0.351 0.315 0.313 129 412 121 0.331 92 69 18 10 21 22 35872 chr19 7965339 7965339 C T rs3745383 LRRC8E Synonymous SNV Y515Y 0.11 0.143 0.078 44 129 55 0.113 23 10 4 0 1 0.06 35873 chr20 57280575 57280575 T C rs6100174 STX16-NPEPL1 0.683 0.648 0.684 270 802 249 0.692 201 270 77 70 93 0.211 35874 chr9 126220114 126220114 C T rs61736953 DENND1A Synonymous SNV R320R 0.104 0.104 0.109 40 122 40 0.103 32 5 2 2 2 17.85 35875 chr20 57478807 57478807 C T rs7121 GNAS Synonymous SNV I116I 0.672 0.667 0.626 254 789 256 0.651 184 281 82 57 85 Benign 15.17 35876 chr1 113197203 113197203 A G rs3790599 CAPZA1 Synonymous SNV E112E 0.031 0.042 0.031 12 36 16 0.031 9 0 0 0 0 2.769 35877 chr1 144930802 144930802 T G rs146001390 PDE4DIP Nonsynonymous SNV I303L 0.034 0.034 0.017 12 40 13 0.031 5 0 0 0 0 13.62 35878 chr9 126520068 126520068 T C rs9785285 DENND1A Synonymous SNV T40T 0.206 0.227 0.211 89 242 87 0.228 62 30 12 5 10 0.62 35879 chr19 9408658 9408658 G A rs73920733 ZNF699 Synonymous SNV L62L 0.104 0.122 0.133 37 122 47 0.095 39 8 4 3 3 0.584 35880 chr20 5753579 5753579 C T rs237422 SHLD1 Nonsynonymous SNV A23V 0.274 0.292 0.306 96 322 112 0.246 90 43 16 9 12 0.008 35881 chr10 28900770 28900770 T G rs2232792 WAC Synonymous SNV S349S 0.006 0.01 0.01 5 7 4 0.013 3 0 0 0 0 Benign 9.194 35882 chr20 57571763 57571763 A G rs9760 CTSZ Synonymous SNV S244S 0.567 0.594 0.527 224 666 228 0.574 155 180 67 42 68 0.029 35883 chr1 100174670 100174670 C T rs12145706 FRRS1 Nonsynonymous SNV M555I 0.046 0.055 0.044 21 54 21 0.054 13 0 0 0 2 15.66 35884 chr20 57572675 57572675 A G rs163785 CTSZ Synonymous SNV Y207Y 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.007 35885 chr9 127116102 127116102 T G rs10818946 LOC100129034 0.213 0.201 0.327 106 250 77 0.272 96 42 13 10 21 2.869 35886 chr20 57599016 57599016 T G rs163777 TUBB1 Synonymous SNV T178T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 2.162 35887 chr20 57767013 57767013 C T rs150575356 ZNF831 Synonymous SNV C313C 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 0.543 35888 chr20 57767043 57767043 G C rs259984 ZNF831 Synonymous SNV A323A 0.188 0.141 0.221 88 221 54 0.226 65 18 4 6 13 0.017 35889 chr20 57767683 57767683 C A rs183636700 ZNF831 Nonsynonymous SNV P537T 0.003 0.018 0.003 1 3 7 0.003 1 0 0 0 0 0.001 35890 chr19 57985702 57985702 C A rs149559142 ZNF772 Nonsynonymous SNV G25V 0.006 0.005 0.024 2 7 2 0.005 7 0 0 0 0 0.013 35891 chr19 9646898 9646898 G A rs2042200 ZNF426 Nonsynonymous SNV A4V 0.123 0.128 0.143 47 144 49 0.121 42 12 3 2 2 0.005 35892 chr20 57768399 57768399 T C rs442091 ZNF831 Synonymous SNV A775A 0.181 0.133 0.224 87 213 51 0.223 66 18 4 6 13 0.009 35893 chr20 57768657 57768657 T C rs41276962 ZNF831 Synonymous SNV D861D 0.086 0.065 0.085 48 101 25 0.123 25 6 0 0 3 0.002 35894 chr20 57768743 57768743 C T rs56057707 ZNF831 Nonsynonymous SNV A890V 0.149 0.125 0.156 69 175 48 0.177 46 13 3 2 6 4.167 35895 chr1 11255008 11255008 T C rs2076658 ANGPTL7 Synonymous SNV Y323Y 0.047 0.042 0.041 9 55 16 0.023 12 0 1 0 0 0.074 35896 chr20 57769140 57769140 G C rs55786258 ZNF831 Nonsynonymous SNV L1022F 0.149 0.125 0.156 69 175 48 0.177 46 13 3 2 6 0.002 35897 chr20 57829301 57829301 T C rs259956 ZNF831 Nonsynonymous SNV S1513P 0.542 0.503 0.585 212 636 193 0.544 172 172 52 49 54 0.008 35898 chr1 114438446 114438446 G A rs34778731 AP4B1 Synonymous SNV I407I 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 Likely benign 9.735 35899 chr20 5843812 5843812 T C rs1699233 SHLD1 Synonymous SNV G107G 0.476 0.43 0.507 204 559 165 0.523 149 133 31 41 51 0.02 35900 chr1 145536082 145536082 G A rs2274616 ITGA10 Nonsynonymous SNV R582Q 0.193 0.167 0.187 65 226 64 0.167 55 26 8 5 10 17.67 35901 chr20 5843952 5843952 G A rs41282138 SHLD1 Nonsynonymous SNV R154Q 0.079 0.089 0.054 43 93 34 0.11 16 3 1 1 3 22.8 35902 chr1 11316244 11316244 C G rs12120294 MTOR Synonymous SNV L170L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 12.07 35903 chr20 58587784 58587784 A - rs769935825 CDH26 X125X 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 35904 chr20 58644995 58644995 T C rs6071100 C20orf197 0.526 0.573 0.507 202 617 220 0.518 149 163 58 37 46 2.122 35905 chr20 5903067 5903067 T A rs6085324 CHGB Nonsynonymous SNV S93T 0.207 0.182 0.204 74 243 70 0.19 60 24 10 4 6 0.012 35906 chr19 9868717 9868717 C T rs75774843 ZNF846 Nonsynonymous SNV A217T 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 12.93 35907 chr1 145578112 145578112 T C PIAS3 Synonymous SNV F25F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.247 35908 chr20 5903192 5903192 G A rs78101688 CHGB Synonymous SNV A134A 0.116 0.115 0.068 45 136 44 0.115 20 12 1 0 2 6.333 35909 chr20 5903323 5903323 G A rs910122 CHGB Nonsynonymous SNV R178Q 0.386 0.354 0.33 137 453 136 0.351 97 81 24 14 29 0.001 35910 chr9 129143435 129143435 A G rs2286889 MVB12B Synonymous SNV S99S 0.083 0.094 0.133 43 98 36 0.11 39 7 2 3 3 11.04 35911 chr9 129453229 129453229 A G rs2277158 LMX1B Synonymous SNV E147E 0.426 0.419 0.395 178 500 161 0.456 116 102 33 23 40 Benign 8.452 35912 chr1 1139202 1139202 T C rs2298213 TNFRSF18 Synonymous SNV P179P 0.067 0.055 0.078 23 79 21 0.059 23 0 0 2 1 0.012 35913 chr20 5903517 5903517 A G rs236151 CHGB Nonsynonymous SNV T243A 0.761 0.732 0.793 273 894 281 0.7 233 332 102 92 95 0.009 35914 chr9 129455587 129455587 G C rs13295990 LMX1B Synonymous SNV S242S 0.428 0.409 0.381 177 503 157 0.454 112 102 29 22 39 Benign 7.34 35915 chr19 8160897 8160897 G C rs12150963 FBN3 Nonsynonymous SNV N1869K 0.091 0.107 0.112 39 107 41 0.1 33 9 2 2 1 23.5 35916 chr20 5903848 5903848 C G rs236152 CHGB Nonsynonymous SNV A353G 0.388 0.357 0.354 138 456 137 0.354 104 82 24 17 29 0.003 35917 chr20 5903894 5903894 A G rs236153 CHGB Synonymous SNV E368E 0.388 0.357 0.354 138 456 137 0.354 104 82 24 17 29 0.989 35918 chr1 115130425 115130425 A G rs61753529 DENND2C Synonymous SNV S803S 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 0.295 35919 chr20 5904040 5904040 G A rs742711 CHGB Nonsynonymous SNV R417H 0.209 0.185 0.207 74 245 71 0.19 61 24 10 4 6 0.002 35920 chr10 31138816 31138816 G T ZNF438 Nonsynonymous SNV P173H 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 9.087 35921 chr20 590456 590456 A G rs282164 TCF15 Synonymous SNV R142R 0.797 0.781 0.827 318 936 300 0.815 243 369 118 102 129 0.058 35922 chr1 14925624 14925624 - CGGCCC KAZN G51_A52insPG 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 35923 chr1 115399884 115399884 C G rs17544210 SYCP1 Synonymous SNV P75P 0.083 0.083 0.065 29 98 32 0.074 19 4 4 0 3 12.33 35924 chr19 8176640 8176640 C T rs12975322 FBN3 Nonsynonymous SNV V1326I 0.21 0.24 0.235 89 247 92 0.228 69 27 12 7 7 10.54 35925 chr20 590542 590542 C G rs2754502 TCF15 Nonsynonymous SNV V114L 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 14.59 35926 chr1 115399884 115399884 C T rs17544210 SYCP1 Synonymous SNV P75P 0.051 0.07 0.034 20 60 27 0.051 10 0 1 0 0 14.76 35927 chr1 149908108 149908108 A G rs1868992 MTMR11 Synonymous SNV N27N 0.214 0.219 0.211 70 251 84 0.179 62 28 10 5 3 0.684 35928 chr9 130206762 130206762 C T rs2248025 ZNF79 Synonymous SNV N127N 0.492 0.526 0.517 181 578 202 0.464 152 151 55 38 44 13.56 35929 chr20 590543 590543 G C rs2665781 TCF15 Synonymous SNV T113T 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 10.87 35930 chr1 150044250 150044250 T G rs62622370 VPS45 Nonsynonymous SNV I46M 0.024 0.013 0.014 8 28 5 0.021 4 0 0 0 0 Benign 16.62 35931 chr20 5939214 5939214 A C rs3761873 MCM8 Synonymous SNV R211R 0.118 0.094 0.085 42 139 36 0.108 25 13 1 2 0 1.408 35932 chr19 8183871 8183871 G A rs35579498 FBN3 Nonsynonymous SNV R1083W 0.041 0.06 0.048 20 48 23 0.051 14 2 2 0 1 29.6 35933 chr20 5953833 5953833 A G rs16991617 MCM8 Synonymous SNV Q462Q 0.123 0.091 0.085 42 144 35 0.108 25 13 1 2 0 0.263 35934 chr20 60293919 60293919 C A rs2892179 LOC100128310 0 0 0.952 0 0 0 0 280 0 0 133 0 0.025 35935 chr1 150054895 150054895 A G rs74127419 VPS45 Synonymous SNV E239E 0.024 0.013 0.014 8 28 5 0.021 4 0 0 0 0 Benign 2.535 35936 chr19 8188812 8188812 C T rs35840170 FBN3 Nonsynonymous SNV V938I 0.042 0.06 0.048 20 49 23 0.051 14 2 2 0 1 19.72 35937 chr1 150199040 150199045 TCCTCT - rs56692627 ANP32E E152_E153del 0.284 0.297 0.146 105 334 114 0.269 43 41 17 10 20 35938 chr20 60348084 60348084 C T rs34937312 CDH4 Nonsynonymous SNV A104V 0.037 0.044 0.034 20 43 17 0.051 10 4 1 0 0 0.62 35939 chr1 150199123 150199123 G T rs7522034 ANP32E Nonsynonymous SNV A111E 0.425 0.417 0.364 148 499 160 0.379 107 105 34 25 31 6.978 35940 chr1 10363223 10363223 C T rs151053483 KIF1B Synonymous SNV D660D 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 16.79 35941 chr20 60485627 60485627 C T rs2427240 CDH4 Synonymous SNV D409D 0.904 0.924 0.915 348 1061 355 0.892 269 478 167 122 155 8.446 35942 chr1 150233926 150233926 G A CA14 Nonsynonymous SNV D49N 0.005 0 0 2 6 0 0.005 0 0 0 0 0 18.39 35943 chr20 6064710 6064710 A G rs753927 FERMT1 Synonymous SNV F565F 0.376 0.365 0.395 147 442 140 0.377 116 85 24 24 28 Benign 9.98 35944 chr1 10435065 10435065 A G rs75413741 KIF1B Synonymous SNV A1704A 0.012 0.005 0.014 2 14 2 0.005 4 0 0 0 0 Benign/Likely benign 6.325 35945 chr20 6065729 6065729 C T rs2232074 FERMT1 Nonsynonymous SNV R526K 0.396 0.375 0.408 152 465 144 0.39 120 95 26 25 31 Benign 14.8 35946 chr1 115164659 115164659 G C rs116241531 DENND2C Nonsynonymous SNV R362G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24 35947 chr9 130479981 130479981 G A rs78007177 TTC16 Nonsynonymous SNV R106Q 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Uncertain significance 26.7 35948 chr20 6065731 6065731 T C rs2232073 FERMT1 Synonymous SNV K525K 0.396 0.375 0.408 152 465 144 0.39 120 95 26 25 31 Benign 0.469 35949 chr20 60713311 60713311 G A rs7076 PSMA7 Synonymous SNV R169R 0.79 0.794 0.793 309 927 305 0.792 233 359 119 93 126 10.12 35950 chr1 10471594 10471594 G A rs761395524 PGD Synonymous SNV Q191Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.799 35951 chr20 60713332 60713332 A G rs1135961 PSMA7 Synonymous SNV G162G 0.875 0.888 0.884 352 1027 341 0.903 260 445 154 114 158 20.1 35952 chr19 8203113 8203113 C T rs35999680 FBN3 Nonsynonymous SNV M371I 0.033 0.042 0.037 17 39 16 0.044 11 0 1 0 0 7.418 35953 chr1 115168440 115168440 T G rs61752477 DENND2C Nonsynonymous SNV I56L 0.02 0.023 0.02 7 24 9 0.018 6 0 0 0 0 0.215 35954 chr20 60791404 60791404 C T rs3787429 HRH3 Synonymous SNV S332S 0.394 0.365 0.344 141 463 140 0.362 101 89 22 18 21 14.45 35955 chr20 60791422 60791422 C T rs3787430 HRH3 Synonymous SNV P326P 0.141 0.133 0.109 50 165 51 0.128 32 14 3 1 4 12.85 35956 chr1 115222237 115222237 T A rs34526199 AMPD1 Nonsynonymous SNV K316I 0.014 0.018 0.02 6 17 7 0.015 6 0 0 0 0 Conflicting interpretations of pathogenicity 32 35957 chr20 60808026 60808026 C T rs6089695 LOC105369209 0 0 0.473 0 0 0 0 139 0 0 44 0 1.304 35958 chr20 60881330 60881330 G A rs2427273 ADRM1 Synonymous SNV A97A 0.915 0.917 0.912 357 1074 352 0.915 268 488 162 124 163 15.25 35959 chr1 115280605 115280605 A C rs61752481 CSDE1 Synonymous SNV P96P 0.03 0.039 0.041 10 35 15 0.026 12 0 0 0 0 0.061 35960 chr20 60881780 60881780 T C rs2427275 ADRM1 Synonymous SNV L138L 0.997 0.995 0.993 381 1171 382 0.977 292 584 190 145 186 7.23 35961 chr20 60887581 60887581 G A rs944895 LAMA5 Nonsynonymous SNV R3079W 0.721 0.729 0.694 275 846 280 0.705 204 314 98 71 101 26 35962 chr1 150679030 150679030 C T rs149020192 HORMAD1 Nonsynonymous SNV S261N 0.01 0 0 4 12 0 0.01 0 0 0 0 0 0.003 35963 chr1 117127417 117127417 C T rs41301291 IGSF3 Nonsynonymous SNV V900M 0.046 0.047 0.034 13 54 18 0.033 10 1 0 0 1 Benign 23.9 35964 chr20 60889385 60889385 G T rs117480847 LAMA5 Nonsynonymous SNV Q2827K 0.018 0.013 0.034 8 21 5 0.021 10 0 0 0 0 2.381 35965 chr1 11561164 11561164 G A rs41274528 DISP3 Nonsynonymous SNV G39R 0.092 0.073 0.068 30 108 28 0.077 20 3 1 1 3 0.623 35966 chr1 10218472 10218472 T C rs114291761 UBE4B Synonymous SNV H866H 0.015 0.013 0.007 10 18 5 0.026 2 0 0 0 0 7.626 35967 chr20 60892526 60892526 A G rs2427281 LAMA5 Synonymous SNV D2462D 0.999 1 0.997 387 1173 384 0.992 293 586 192 146 192 0.412 35968 chr1 11561937 11561937 C T rs12144924 DISP3 Synonymous SNV V296V 0.092 0.073 0.065 30 108 28 0.077 19 3 1 1 3 10.79 35969 chr20 60895697 60895697 C T rs2297587 LAMA5 Nonsynonymous SNV R2226H 0.173 0.167 0.173 76 203 64 0.195 51 21 7 9 6 18.58 35970 chr1 11562913 11562913 C T rs60362998 DISP3 Synonymous SNV F425F 0.092 0.073 0.068 30 108 28 0.077 20 3 1 1 3 16.35 35971 chr9 130565267 130565267 A G rs10760502 FPGS Nonsynonymous SNV I22V 0.402 0.435 0.265 204 472 167 0.523 78 158 64 32 70 0.003 35972 chr20 60897487 60897487 C T rs2274934 LAMA5 Nonsynonymous SNV D2062N 0.552 0.563 0.561 211 648 216 0.541 165 223 76 58 63 17.01 35973 chr1 11596455 11596455 C T rs2594310 DISP3 Synonymous SNV A1297A 0.09 0.068 0.088 26 106 26 0.067 26 3 1 1 2 15.5 35974 chr20 60897488 60897488 G A rs2274933 LAMA5 Synonymous SNV F2061F 0.16 0.117 0.17 70 188 45 0.179 50 24 5 6 9 9.22 35975 chr20 60897772 60897772 T C rs6143021 LAMA5 Nonsynonymous SNV H2036R 0.083 0.083 0.133 42 98 32 0.108 39 19 6 10 8 1.308 35976 chr9 130586688 130586688 G A rs3739817 ENG Synonymous SNV T343T 0.049 0.052 0.082 23 58 20 0.059 24 2 1 3 1 Benign/Likely benign 11.77 35977 chr1 150940625 150940625 T G rs267738 CERS2 Nonsynonymous SNV E115A 0.142 0.156 0.173 60 167 60 0.154 51 6 3 3 4 28.2 35978 chr1 10363664 10363664 G T rs41274458 KIF1B Nonsynonymous SNV M807I 0.015 0.016 0.007 10 18 6 0.026 2 0 0 0 0 Benign 1.246 35979 chr1 108742632 108742632 C T rs6671207 SLC25A24 Synonymous SNV E43E 0.046 0.031 0.051 13 54 12 0.033 15 1 0 0 0 15.77 35980 chr19 8400651 8400651 C G rs11669559 KANK3 Synonymous SNV P20P 0.184 0.219 0.204 60 216 84 0.154 60 28 14 4 5 12.98 35981 chr20 60899182 60899182 C T rs11698080 LAMA5 Nonsynonymous SNV A1908T 0.187 0.177 0.197 80 220 68 0.205 58 22 7 9 6 9.159 35982 chr1 1163964 1163964 G A rs78548753 SDF4 Synonymous SNV D70D 0.043 0.018 0.027 19 50 7 0.049 8 0 0 0 1 2.149 35983 chr9 130674720 130674720 C T rs74997967 ST6GALNAC4 Synonymous SNV T62T 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 16.04 35984 chr1 10364057 10364057 A G rs41274462 KIF1B Synonymous SNV T938T 0.015 0.016 0.007 10 18 6 0.026 2 0 0 0 0 Benign 5.557 35985 chr20 60899206 60899206 C T rs2427283 LAMA5 Nonsynonymous SNV V1900M 0.729 0.737 0.735 274 856 283 0.703 216 316 104 84 94 21.7 35986 chr20 60900481 60900481 A G rs2427284 LAMA5 Nonsynonymous SNV F1807S 0.949 0.956 0.956 372 1114 367 0.954 281 527 175 136 177 10.13 35987 chr1 150974971 150974971 T A rs41310885 MINDY1 Nonsynonymous SNV R89S 0.05 0.063 0.024 18 59 24 0.046 7 0 1 0 0 12.39 35988 chr1 116655272 116655272 C T rs61788520 MAB21L3 Synonymous SNV C12C 0.025 0.018 0.014 6 29 7 0.015 4 0 0 0 0 8.712 35989 chr1 1168180 1168180 G C rs12085009 B3GALT6 Nonsynonymous SNV E174D 0.043 0.018 0.027 24 51 7 0.062 8 0 0 0 1 Benign 1.053 35990 chr20 60900579 60900579 C A rs2427285 LAMA5 Synonymous SNV T1774T 0.949 0.956 0.956 372 1114 367 0.954 281 527 175 136 177 18.21 35991 chr20 60903419 60903419 C T rs7262393 LAMA5 Synonymous SNV L1510L 0.19 0.177 0.197 82 223 68 0.21 58 22 7 9 7 13.14 35992 chr20 60904853 60904853 T C rs2427286 LAMA5 Nonsynonymous SNV K1367E 0.949 0.956 0.956 372 1114 367 0.954 281 527 175 136 177 13.12 35993 chr1 11710561 11710561 T G rs9614 FBXO2 Nonsynonymous SNV K118T 0.177 0.18 0.228 90 208 69 0.231 67 19 6 9 12 24.6 35994 chr9 130712813 130712813 G A rs143563525 FAM102A Synonymous SNV G101G 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 5.764 35995 chr20 60905878 60905878 A G rs3810548 LAMA5 Nonsynonymous SNV M1258T 0.907 0.927 0.901 348 1065 356 0.892 265 483 164 121 154 0.003 35996 chr1 151015868 151015868 G A rs12068365 BNIPL Nonsynonymous SNV S144N 0.069 0.091 0.044 29 81 35 0.074 13 0 1 0 0 23.5 35997 chr20 60907446 60907446 T C rs2151513 LAMA5 Synonymous SNV E1178E 0.921 0.943 0.929 348 1081 362 0.892 273 497 170 126 156 0.004 35998 chr1 151062957 151062957 G A rs11204774 GABPB2 Nonsynonymous SNV V62I 0.067 0.089 0.044 29 79 34 0.074 13 0 1 0 0 22.1 35999 chr20 60907675 60907675 G A rs6142734 LAMA5 Synonymous SNV A1127A 0.876 0.88 0.861 325 1028 338 0.833 253 449 146 111 136 9.345 36000 chr1 117297327 117297327 C G rs142374557 CD2 Nonsynonymous SNV P46A 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 1.219 36001 chr20 60908964 60908964 G A rs13044266 LAMA5 Synonymous SNV C957C 0.908 0.93 0.738 344 1066 357 0.882 217 483 165 102 151 3.922 36002 chr20 60908969 60908969 T C rs13042941 LAMA5 Nonsynonymous SNV T956A 0.908 0.93 0.745 344 1066 357 0.882 219 483 165 103 151 0.002 36003 chr9 130938661 130938661 C T rs11549266 CIZ1 Nonsynonymous SNV V537M 0.111 0.115 0.085 45 130 44 0.115 25 8 2 2 4 7.279 36004 chr19 8575765 8575765 C G rs3111564 ZNF414 Nonsynonymous SNV A357P 0.037 0.036 0.153 10 43 14 0.026 45 11 4 2 1 4.872 36005 chr20 60909060 60909060 A G rs13038331 LAMA5 Synonymous SNV P925P 0.91 0.93 0.895 344 1068 357 0.882 263 485 165 119 151 0.188 36006 chr20 60912683 60912683 T C rs2427289 LAMA5 Synonymous SNV T709T 0.909 0.93 0.901 344 1067 357 0.882 265 484 165 120 151 0.023 36007 chr20 60913127 60913127 A G rs8124907 LAMA5 Synonymous SNV A612A 0.204 0.182 0.197 82 240 70 0.21 58 24 8 9 8 0.22 36008 chr1 109656931 109656931 G A rs139816507 KIAA1324 Synonymous SNV T42T 0.023 0.029 0.014 8 27 11 0.021 4 1 0 0 0 9.959 36009 chr20 60920887 60920887 G A rs11204472 LAMA5 Synonymous SNV A488A 0.706 0.742 0.701 258 829 285 0.662 206 291 109 79 82 16.56 36010 chr20 60921643 60921643 T C rs4925229 LAMA5 Nonsynonymous SNV T401A 0.973 0.982 0.956 362 1142 377 0.928 281 555 185 134 168 19.2 36011 chr1 151239813 151239813 G C PSMD4 Nonsynonymous SNV K379N 0.005 0 0 2 6 0 0.005 0 0 0 0 0 23.8 36012 chr20 60927349 60927349 C T rs483876 LAMA5 Synonymous SNV A212A 0.92 0.93 0.898 346 1080 357 0.887 264 495 166 122 153 13.68 36013 chr20 60927412 60927412 G A rs624313 LAMA5 Synonymous SNV S191S 0.705 0.729 0.68 254 828 280 0.651 200 289 108 76 79 4.642 36014 chr20 60937597 60937597 A G rs477859 LAMA5 Synonymous SNV C103C 0.811 0.833 0.813 301 952 320 0.772 239 385 136 99 117 0.089 36015 chr20 60966318 60966318 G T rs6089219 CABLES2 Nonsynonymous SNV T428K 0.951 0.94 0.983 371 1116 361 0.951 289 533 169 142 176 13.07 36016 chr20 60968596 60968596 A G rs1570027 CABLES2 Synonymous SNV H260H 0.198 0.188 0.19 95 232 72 0.244 56 23 10 7 9 0.064 36017 chr1 151503000 151503000 G A rs201221356 CGN Synonymous SNV A783A 0.014 0.01 0 5 16 4 0.013 0 0 1 0 0 7.657 36018 chr19 608050 608050 C T rs368577337 HCN2 Synonymous SNV P435P 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 14.98 36019 chr20 60986019 60986019 A C rs2236200 RBBP8NL Nonsynonymous SNV L637R 0.208 0.206 0.218 98 244 79 0.251 64 18 11 11 9 22.2 36020 chr1 117659292 117659292 C T rs76902778 TRIM45 Nonsynonymous SNV G415D 0.016 0.016 0.034 2 19 6 0.005 10 0 0 0 0 16.64 36021 chr20 6100088 6100088 A G rs10373 FERMT1 Synonymous SNV H38H 0.578 0.573 0.544 227 678 220 0.582 160 198 68 40 62 Benign 0.794 36022 chr20 61039958 61039958 T C rs6061550 GATA5 Synonymous SNV P376P 0.532 0.513 0.439 184 625 197 0.472 129 167 51 35 41 0.052 36023 chr20 61040453 61040453 C G rs6061243 GATA5 Synonymous SNV S327S 0.455 0.432 0.473 180 534 166 0.462 139 121 39 35 46 8.229 36024 chr1 109446750 109446750 G A rs61754640 GPSM2 Nonsynonymous SNV G356R 0.037 0.026 0.044 10 43 10 0.026 13 1 0 0 0 Conflicting interpretations of pathogenicity 33 36025 chr20 61040951 61040951 C T rs6587239 GATA5 Synonymous SNV K284K 0.458 0.44 0.486 178 538 169 0.456 143 122 38 33 45 12.9 36026 chr1 11779748 11779748 G C rs200060632 DRAXIN Nonsynonymous SNV V349L 0.005 0 0 0 6 0 0 0 0 0 0 0 29.7 36027 chr20 61143487 61143487 T C rs3934574 MIR1-1HG-AS1 0 0 0.575 0 0 0 0 169 0 0 47 0 0.761 36028 chr9 131484772 131484772 T C rs11539210 ZDHHC12 Nonsynonymous SNV Y116C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 26.4 36029 chr1 109794123 109794123 G C rs41279704 CELSR2 Synonymous SNV V474V 0.022 0.021 0.041 11 26 8 0.028 12 0 0 1 0 0.002 36030 chr20 61145196 61145196 G A rs12479469 MIR1-1HG-AS1 0 0 0.235 0 0 0 0 69 0 0 12 0 3.187 36031 chr20 61162267 61162267 T C rs6062251 MIR1-1HG Nonsynonymous SNV V27A 0.654 0.672 0.636 258 768 258 0.662 187 263 94 58 91 0.003 36032 chr9 131515547 131515547 G T rs8507 ZER1 Synonymous SNV A214A 0.504 0.518 0.52 197 592 199 0.505 153 155 52 34 52 9.8 36033 chr20 61167883 61167883 G A rs6143064 MIR1-1HG Synonymous SNV X118X 0.385 0.451 0.432 169 452 173 0.433 127 89 37 26 39 6.029 36034 chr20 61432198 61432198 C T rs1060961 OGFR-AS1 0 0 0.204 0 0 0 0 60 0 0 4 0 1.379 36035 chr1 118565953 118565953 G A rs10923472 SPAG17 Nonsynonymous SNV P1348L 0.387 0.385 0.367 139 454 148 0.356 108 99 26 20 26 23.4 36036 chr20 61432216 61432216 C T rs6011392 OGFR-AS1 0 0 0.378 0 0 0 0 111 0 0 24 0 8.561 36037 chr20 61443687 61443687 G A rs6122311 OGFR Synonymous SNV T240T 0.053 0.049 0.041 16 62 19 0.041 12 2 0 1 0 12.87 36038 chr20 61444600 61444600 C A rs6122313 OGFR Nonsynonymous SNV R545S 0.003 0.005 0.01 2 4 2 0.005 3 0 0 1 0 6.793 36039 chr1 118582057 118582057 A G rs144455655 SPAG17 Synonymous SNV F1059F 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Benign 0.576 36040 chr1 118583408 118583408 G A rs10923477 SPAG17 Synonymous SNV Y1037Y 0.393 0.393 0.364 140 461 151 0.359 107 102 26 20 26 0.636 36041 chr20 61444939 61444939 G C rs11543349 OGFR Nonsynonymous SNV G658R 0.051 0.047 0.031 16 60 18 0.041 9 1 0 0 0 12.23 36042 chr1 118644430 118644430 A G rs10754367 SPAG17 Synonymous SNV N189N 0.515 0.503 0.415 190 605 193 0.487 122 157 46 26 49 0.038 36043 chr20 61468571 61468571 T C rs2294995 COL9A3 Synonymous SNV P580P 0.693 0.701 0.704 253 813 269 0.649 207 292 98 75 77 Benign 1.855 36044 chr1 118644524 118644524 T A rs17185492 SPAG17 Nonsynonymous SNV E158V 0.145 0.159 0.112 61 170 61 0.156 33 13 2 1 6 28.1 36045 chr1 109823457 109823457 T A rs116389032 PSRC1 Stop gain K249X 0.032 0.034 0.048 11 38 13 0.028 14 1 0 1 1 5.974 36046 chr20 61512606 61512606 T C rs910148 DIDO1 Nonsynonymous SNV T1568A 0.999 0.997 0.997 387 1173 383 0.992 293 586 191 146 192 0.002 36047 chr20 61542239 61542239 C T rs34097003 DIDO1 Synonymous SNV A242A 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 15.62 36048 chr19 8993018 8993018 G A rs61742668 MUC16 Nonsynonymous SNV P13914L 0.141 0.115 0.122 46 165 44 0.118 36 14 2 1 0 13.15 36049 chr20 61572938 61572938 C T rs34200024 GID8 Synonymous SNV D28D 0.003 0.008 0.014 1 4 3 0.003 4 0 0 0 0 12.21 36050 chr20 61588159 61588159 A G rs2245341 SLC17A9 Synonymous SNV T34T 0.706 0.732 0.684 271 829 281 0.695 201 288 102 69 91 0.162 36051 chr20 61594679 61594679 A G rs2427463 SLC17A9 Nonsynonymous SNV N228S 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 0.001 36052 chr1 119427467 119427467 A C rs61730011 TBX15 Nonsynonymous SNV M566R 0.093 0.068 0.078 31 109 26 0.079 23 5 0 0 0 Benign 18.94 36053 chr20 61937296 61937296 C T rs753686 COL20A1 Nonsynonymous SNV P134L 0.098 0.073 0.085 49 115 28 0.126 25 9 0 1 1 7.981 36054 chr9 132084621 132084621 G A rs913770 C9orf106 0.059 0.078 0.095 24 69 30 0.062 28 4 0 0 0 4.534 36055 chr19 8999414 8999414 G A rs756970368 MUC16 Synonymous SNV D13587D 0.035 0.013 0 20 41 5 0.051 0 0 0 0 0 6.4 36056 chr20 61941747 61941747 A G rs4809287 COL20A1 Synonymous SNV G426G 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 0.344 36057 chr20 61951489 61951489 G C rs6089881 COL20A1 Synonymous SNV A1005A 0.985 0.984 0.973 382 1156 378 0.979 286 573 189 141 190 7.308 36058 chr20 61981104 61981104 C T rs1044397 CHRNA4 Synonymous SNV A553A 0.475 0.497 0.476 174 558 191 0.446 140 130 47 34 44 Benign 5.695 36059 chr1 152193958 152193958 G A rs199892404 HRNR Synonymous SNV N49N 0.005 0 0 2 6 0 0.005 0 0 0 0 0 4.887 36060 chr20 61981134 61981134 G A rs1044396 CHRNA4 Synonymous SNV S543S 0.473 0.492 0.49 172 555 189 0.441 144 129 46 36 44 Benign 0.281 36061 chr20 61981536 61981536 A G rs2229960 CHRNA4 Synonymous SNV C409C 0.942 0.956 0.935 368 1106 367 0.944 275 520 175 130 174 Benign 0.001 36062 chr20 61981554 61981554 C A rs2229959 CHRNA4 Synonymous SNV P403P 0.845 0.846 0.837 328 992 325 0.841 246 424 138 104 143 Benign 7.616 36063 chr20 61982085 61982085 A G rs1044394 CHRNA4 Synonymous SNV C226C 0.928 0.945 0.935 358 1090 363 0.918 275 504 172 128 166 Benign 0.001 36064 chr20 61982124 61982124 A G rs1044393 CHRNA4 Synonymous SNV D213D 0.846 0.852 0.854 328 993 327 0.841 251 425 140 106 143 Benign 0.12 36065 chr20 62038277 62038277 T G rs1801475 KCNQ2 Nonsynonymous SNV N752T 0.551 0.573 0.633 228 647 220 0.585 186 175 63 57 65 Benign 0.007 36066 chr20 62070966 62070966 G A rs2297385 KCNQ2 Synonymous SNV F304F 0.115 0.112 0.133 41 135 43 0.105 39 6 1 3 3 Benign 5.175 36067 chr20 62126185 62126185 A G rs310617 EEF1A2 Synonymous SNV G198G 0.52 0.534 0.534 194 610 205 0.497 157 169 56 42 46 Benign 0.016 36068 chr9 132662786 132662786 C T rs1023000 FNBP1 Nonsynonymous SNV S461N 0.495 0.529 0.531 198 581 203 0.508 156 149 58 41 51 3.647 36069 chr20 62191321 62191321 A G rs3810477 HELZ2 Synonymous SNV N2026N 0.57 0.526 0.588 229 669 202 0.587 173 188 59 53 70 0.088 36070 chr20 62194030 62194030 G C rs3810483 HELZ2 Nonsynonymous SNV Q1480E 0.451 0.435 0.446 175 529 167 0.449 131 115 38 32 42 0.002 36071 chr20 62194103 62194103 A G rs3810484 HELZ2 Synonymous SNV P1455P 0.451 0.435 0.446 176 529 167 0.451 131 115 38 32 42 0.037 36072 chr1 118535211 118535211 T C rs35290515 SPAG17 Nonsynonymous SNV K1747E 0.03 0.031 0.014 10 35 12 0.026 4 2 0 0 0 19.52 36073 chr20 62194128 62194128 G A rs3810485 HELZ2 Nonsynonymous SNV P1447L 0.29 0.299 0.299 108 340 115 0.277 88 51 17 15 18 5.167 36074 chr20 62194238 62194238 C T rs34996572 HELZ2 Synonymous SNV P1410P 0.048 0.042 0.048 12 56 16 0.031 14 2 0 0 1 13.51 36075 chr9 133305074 133305157 TACGGGGACACCCACCCTCTGGCCACACCGCTGCAGCTGCCCCAGGGGTTACCGGATGCAGGGCCCCAGCCTGCCCTGCCTAGT - HMCN2 0.15 0.146 0.122 65 176 56 0.167 36 12 2 0 2 36076 chr9 133760593 133760593 G A rs143132804 ABL1 Synonymous SNV S972S 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Benign 9.231 36077 chr20 62194754 62194754 C T rs964691723 HELZ2 Synonymous SNV P1238P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 36078 chr20 62195087 62195087 A G rs310630 HELZ2 Synonymous SNV S1127S 0.463 0.492 0.459 175 544 189 0.449 135 122 48 32 40 0.016 36079 chr20 62195827 62195827 C T rs755685714 HELZ2 Nonsynonymous SNV V881I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 36080 chr9 133787218 133787218 G C rs144181457 FIBCD1 Nonsynonymous SNV R303G 0.018 0.031 0.014 9 21 12 0.023 4 0 0 0 0 25.8 36081 chr20 62196253 62196253 C A rs310631 HELZ2 Nonsynonymous SNV V739L 0.431 0.445 0.395 167 506 171 0.428 116 100 41 26 36 0.002 36082 chr10 49998780 49998780 G A rs41282009 WDFY4 Nonsynonymous SNV V1359I 0.043 0.036 0.041 14 50 14 0.036 12 0 0 0 0 23.1 36083 chr1 12423276 12423276 A T rs145226038 VPS13D Nonsynonymous SNV K3449M 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Likely benign 28.5 36084 chr20 62196807 62196807 T C rs310632 HELZ2 Nonsynonymous SNV H554R 0.978 0.982 0.966 381 1148 377 0.977 284 561 185 137 186 0.001 36085 chr1 152882610 152882610 A G rs2229496 IVL Nonsynonymous SNV T113A 0.141 0.143 0.17 46 166 55 0.118 50 10 5 5 2 0.002 36086 chr20 62196884 62196884 A G rs310633 HELZ2 Synonymous SNV T528T 0.948 0.964 0.935 367 1113 370 0.941 275 526 178 129 172 0.005 36087 chr10 50004372 50004372 C T rs41282011 WDFY4 Synonymous SNV A1429A 0.052 0.039 0.041 17 61 15 0.044 12 1 0 0 0 9.945 36088 chr9 133924451 133924451 C T rs869457 LAMC3 Nonsynonymous SNV P522S 0.281 0.276 0.31 109 330 106 0.279 91 33 15 16 11 Benign 5.635 36089 chr20 62198236 62198236 G A rs415304 HELZ2 Synonymous SNV R256R 0.647 0.672 0.667 252 759 258 0.646 196 245 85 64 83 3.91 36090 chr1 152883608 152883608 G A rs7545413 IVL Synonymous SNV Q445Q 0.134 0.141 0.153 45 157 54 0.115 45 10 5 4 2 1.299 36091 chr20 62198348 62198348 C T rs438363 HELZ2 Nonsynonymous SNV S219N 0.923 0.945 0.895 361 1084 363 0.926 263 498 171 118 166 0.001 36092 chr1 110466810 110466810 C A rs2229166 CSF1 Synonymous SNV R523R 0.106 0.109 0.112 42 125 42 0.108 33 4 7 3 3 14.23 36093 chr1 152883680 152883680 A G rs7535306 IVL Synonymous SNV Q469Q 0.137 0.135 0.16 46 161 52 0.118 47 10 5 4 2 0.041 36094 chr1 12004675 12004675 C T rs534978828 PLOD1 Nonsynonymous SNV S58F 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 5.187 36095 chr20 62198662 62198662 A G rs367440 HELZ2 Synonymous SNV Y114Y 0.923 0.945 0.895 361 1084 363 0.926 263 498 171 118 166 0.002 36096 chr1 152883711 152883711 G C rs7545520 IVL Nonsynonymous SNV V480L 0.141 0.141 0.163 46 165 54 0.118 48 10 5 5 2 0.002 36097 chr20 62200575 62200575 T C rs1741594 HELZ2 Synonymous SNV S338S 0.923 0.945 0.867 361 1084 363 0.926 255 498 171 116 166 0.002 36098 chr20 62200860 62200860 A G rs1757752 HELZ2 Synonymous SNV A243A 0.821 0.836 0.83 325 964 321 0.833 244 394 135 101 132 0.229 36099 chr20 62221610 62221610 T C rs311496 GMEB2 Synonymous SNV L475L 0.837 0.867 0.81 331 983 333 0.849 238 409 142 98 138 0.165 36100 chr20 62227081 62227081 A G rs311489 GMEB2 Synonymous SNV H167H 0.837 0.867 0.81 331 983 333 0.849 238 409 142 98 138 6.741 36101 chr1 110882627 110882627 A G rs61746123 RBM15 Synonymous SNV V200V 0.013 0.01 0.003 2 15 4 0.005 1 0 0 0 0 4.709 36102 chr20 62236148 62236148 T C rs6090471 GMEB2 Synonymous SNV A59A 0.886 0.896 0.905 356 1040 344 0.913 266 464 154 120 161 2.535 36103 chr20 62320968 62320968 T C rs6062302 RTEL1 Synonymous SNV D441D 0.773 0.797 0.82 295 907 306 0.756 241 349 122 96 113 Benign 1.822 36104 chr1 1266738 1266738 G A rs76755863 TAS1R3 Nonsynonymous SNV A5T 0.03 0.039 0.031 8 35 15 0.021 9 0 0 0 0 12.45 36105 chr20 62321655 62321655 G A rs2236506 RTEL1 Synonymous SNV A535A 0.767 0.799 0.81 294 901 307 0.754 238 344 122 93 112 Benign 4.461 36106 chr20 62322288 62322288 T C rs3208007 RTEL1 Synonymous SNV P625P 0.758 0.792 0.731 280 890 304 0.718 215 351 123 90 112 Benign 0.004 36107 chr1 1266740 1266740 T A rs141430443 TAS1R3 Synonymous SNV A5A 0.03 0.039 0.031 8 35 15 0.021 9 0 0 0 0 5.169 36108 chr20 62324290 62324290 G A rs61736615 RTEL1 Nonsynonymous SNV A706T 0.043 0.052 0.044 15 51 20 0.038 13 0 1 0 0 Benign 5.615 36109 chr20 62326110 62326110 A C rs3208008 RTEL1 Nonsynonymous SNV Q819H 0.795 0.797 0.813 307 933 306 0.787 239 371 122 95 122 Benign 0.181 36110 chr1 1269802 1269802 C T rs148758835 TAS1R3 Synonymous SNV G839G 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 9.193 36111 chr1 12030759 12030759 G T rs35460537 PLOD1 Synonymous SNV V596V 0.007 0.008 0.017 3 8 3 0.008 5 0 0 0 0 Benign/Likely benign 8.268 36112 chr20 62328375 62328375 A G rs2738787 TNFRSF6B Synonymous SNV L85L 0.954 0.948 0.918 366 1120 364 0.938 270 534 172 124 171 Benign 14.85 36113 chr1 12034805 12034805 T C rs879690 PLOD1 Synonymous SNV H708H 0.008 0.008 0.017 3 9 3 0.008 5 0 0 0 0 Benign/Likely benign 3.848 36114 chr1 153509890 153509890 T C rs3795393 S100A5 Nonsynonymous SNV D54G 0.147 0.128 0.119 49 173 49 0.126 35 12 1 4 3 19.42 36115 chr20 62340115 62340115 C G rs1291212 ZGPAT Nonsynonymous SNV S61R 0.952 0.943 0.922 369 1118 362 0.946 271 533 170 126 174 12.15 36116 chr1 12034814 12034814 C G rs879691 PLOD1 Synonymous SNV L711L 0.007 0.008 0.017 3 8 3 0.008 5 0 0 0 0 Benign/Likely benign 14.21 36117 chr1 110921824 110921824 T C rs145730319 SLC16A4 Synonymous SNV T117T 0.017 0.016 0.003 9 20 6 0.023 1 0 0 0 0 0.037 36118 chr1 15382607 15382607 G A rs79632856 KAZN Synonymous SNV T155T 0.062 0.055 0.082 24 73 21 0.062 24 4 0 0 1 13.54 36119 chr20 62372813 62372813 G A rs2427536 SLC2A4RG Synonymous SNV P124P 0.951 0.943 0.922 369 1117 362 0.946 271 531 170 125 174 8.692 36120 chr10 50121454 50121454 G A rs41302987 LRRC18 Synonymous SNV D249D 0.067 0.078 0.054 30 79 30 0.077 16 5 0 1 0 0.022 36121 chr20 62373707 62373707 G T rs8957 SLC2A4RG Nonsynonymous SNV E233D 0.772 0.755 0.755 296 906 290 0.759 222 350 110 82 111 5.578 36122 chr1 120438827 120438827 T C rs41276636 ADAM30 Nonsynonymous SNV I45V 0.022 0.018 0.024 6 26 7 0.015 7 0 0 0 0 0.014 36123 chr1 153941536 153941536 C T rs145524837 CREB3L4 Nonsynonymous SNV P102L 0.007 0 0.01 5 8 0 0.013 3 0 0 0 0 17.24 36124 chr20 62378349 62378349 C T rs5019252 ZBTB46 Synonymous SNV E568E 0.317 0.31 0.306 118 372 119 0.303 90 64 12 15 19 1.348 36125 chr20 62378364 62378364 C T rs12625387 ZBTB46 Synonymous SNV A563A 0.322 0.32 0.32 123 378 123 0.315 94 67 13 15 21 12.31 36126 chr1 1334475 1334475 G C rs17851391 CCNL2 Nonsynonymous SNV T71S 0.062 0.065 0.078 19 73 25 0.049 23 3 1 1 0 7.581 36127 chr20 62574006 62574006 A G rs73147065 MIR647 0 0 0.143 0 0 0 0 42 0 0 5 0 6.622 36128 chr20 62595169 62595169 A G rs817325 ZNF512B Synonymous SNV L526L 0.517 0.531 0.514 205 607 204 0.526 151 156 48 35 50 7.054 36129 chr10 50256548 50256548 G A rs142127949 VSTM4 Synonymous SNV D250D 0.014 0.01 0.024 8 17 4 0.021 7 0 0 0 0 6.31 36130 chr9 134350323 134350323 C G rs10736851 PRRC2B Nonsynonymous SNV T936S 0.847 0.789 0.861 334 994 303 0.856 253 424 119 107 142 12.44 36131 chr20 62597694 62597694 T G rs817329 ZNF512B Synonymous SNV V278V 0.517 0.529 0.51 205 607 203 0.526 150 156 47 35 50 0.091 36132 chr19 7685843 7685843 G A rs794078 XAB2 Synonymous SNV T620T 0.125 0.182 0.139 67 147 70 0.172 41 6 5 3 8 7.461 36133 chr20 62598815 62598815 C T rs817330 ZNF512B Synonymous SNV P61P 0.259 0.271 0.279 108 304 104 0.277 82 37 13 15 18 13.53 36134 chr9 134350458 134350458 C T rs10751478 PRRC2B Nonsynonymous SNV P981L 0.848 0.789 0.861 334 995 303 0.856 253 424 119 107 142 0.003 36135 chr20 62714783 62714783 C G rs6010717 LKAAEAR1 Synonymous SNV A226A 0.633 0.628 0.595 255 743 241 0.654 175 237 74 55 85 11.98 36136 chr1 1220954 1220954 G A rs12751100 SCNN1D Synonymous SNV S156S 0.064 0.034 0.065 17 75 13 0.044 19 2 1 0 0 7.437 36137 chr20 62715548 62715548 C A rs4431000 LKAAEAR1 Nonsynonymous SNV G9W 0.182 0.227 0.241 94 214 87 0.241 71 81 37 23 36 25.2 36138 chr1 1222958 1222958 C T rs111819661 SCNN1D Nonsynonymous SNV R461C 0.036 0.016 0.02 6 42 6 0.015 6 0 0 0 0 16.95 36139 chr1 111826007 111826007 C T rs58982671 CHIAP2 0.236 0.305 0.299 83 277 117 0.213 88 38 20 14 7 4.64 36140 chr20 62737318 62737318 G A rs13036542 NPBWR2 Synonymous SNV P289P 0.456 0.487 0.459 203 535 187 0.521 135 118 46 30 53 0.379 36141 chr20 62737537 62737537 C A rs4809400 NPBWR2 Synonymous SNV T216T 0.135 0.12 0.116 58 158 46 0.149 34 13 3 1 3 14.63 36142 chr1 1223109 1223109 C T rs368507454 SCNN1D Synonymous SNV L486L 0.003 0 0 0 3 0 0 0 0 0 0 0 2.986 36143 chr10 50340190 50340190 C T rs41280539 FAM170B Nonsynonymous SNV C107Y 0.009 0.005 0.014 6 11 2 0.015 4 0 0 0 0 5.474 36144 chr20 62737568 62737568 T C rs4809401 NPBWR2 Nonsynonymous SNV Q206R 0.136 0.122 0.116 58 160 47 0.149 34 13 3 1 3 0.002 36145 chr1 154401679 154401679 G A rs2228144 IL6R Synonymous SNV A31A 0.151 0.18 0.167 51 177 69 0.131 49 17 7 3 2 9.302 36146 chr1 12336147 12336147 T C rs7546794 VPS13D Synonymous SNV N834N 0.016 0.021 0.017 10 19 8 0.026 5 0 0 0 1 0.026 36147 chr1 15441090 15441090 C T rs12048768 KAZN Nonsynonymous SNV R763C 0.011 0.008 0.014 4 13 3 0.01 4 0 0 0 0 34 36148 chr20 6751034 6751034 A G rs1049007 BMP2 Synonymous SNV S87S 0.685 0.659 0.711 278 804 253 0.713 209 281 81 78 94 Benign 6.226 36149 chr1 12389953 12389953 T C rs79566132 VPS13D Synonymous SNV D2755D 0.016 0.021 0.017 10 19 8 0.026 5 0 0 0 1 4.95 36150 chr20 6759115 6759115 A T rs235768 BMP2 Nonsynonymous SNV R190S 0.681 0.643 0.721 277 799 247 0.71 212 277 78 80 91 Benign 25.3 36151 chr19 9009681 9009681 G T MUC16 Synonymous SNV L13015L 0.007 0.005 0.017 6 8 2 0.015 5 0 0 0 0 2.325 36152 chr20 744415 744415 G A rs3746804 SLC52A3 Nonsynonymous SNV P267L 0.143 0.133 0.143 46 168 51 0.118 42 15 3 0 1 Benign 13.6 36153 chr19 9009706 9009706 A C rs200995334 MUC16 Nonsynonymous SNV V13007G 0.027 0.029 0.109 12 32 11 0.031 32 0 0 0 0 0.001 36154 chr20 745963 745963 G A rs3746807 SLC52A3 Synonymous SNV P152P 0.065 0.049 0.082 26 76 19 0.067 24 5 0 0 1 Benign 11.33 36155 chr20 746197 746197 G C rs35655964 SLC52A3 Nonsynonymous SNV I74M 0.063 0.049 0.078 26 74 19 0.067 23 5 0 0 1 Benign/Likely benign 12.02 36156 chr19 9020052 9020052 G A rs149857609 MUC16 Synonymous SNV S12481S 0.014 0.013 0.02 3 16 5 0.008 6 0 0 0 0 9.845 36157 chr1 113209748 113209748 A G rs774313497 CAPZA1 Nonsynonymous SNV Q213R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.94 36158 chr20 76962 76962 T C rs6111385 DEFB125 Synonymous SNV S125S 0.841 0.833 0.891 334 987 320 0.856 262 412 132 116 143 0.004 36159 chr20 7967980 7967980 G C rs17425725 TMX4 Synonymous SNV V190V 0.126 0.128 0.109 74 148 49 0.19 32 15 9 1 10 9.976 36160 chr9 135073877 135073877 C T rs3824574 NTNG2 Synonymous SNV F246F 0.368 0.344 0.391 158 432 132 0.405 115 79 21 24 31 10.47 36161 chr20 7980390 7980390 C T rs1012891 TMX4 Synonymous SNV P152P 0.354 0.367 0.306 153 416 141 0.392 90 73 30 11 27 14.83 36162 chr20 825678 825678 T C rs538094 FAM110A Synonymous SNV F77F 0.876 0.865 0.878 325 1029 332 0.833 258 447 142 112 134 1.355 36163 chr20 854940 854940 T C rs944110 ANGPT4 Synonymous SNV Q446Q 0.396 0.398 0.401 146 465 153 0.374 118 80 29 23 30 0.054 36164 chr20 860426 860426 G A rs61737018 ANGPT4 Synonymous SNV T339T 0.086 0.102 0.065 35 101 39 0.09 19 3 4 1 1 9.831 36165 chr20 8717713 8717713 G A rs3761170 PLCB1 Synonymous SNV G694G 0.06 0.07 0.092 28 70 27 0.072 27 0 1 1 2 Benign/Likely benign 5.872 36166 chr20 8717719 8717719 C T rs189186909 PLCB1 Synonymous SNV Y696Y 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 7.25 36167 chr9 135114496 135114496 G A rs529755045 NTNG2 Nonsynonymous SNV E354K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 26.1 36168 chr19 7999121 7999121 G A rs55715900 TIMM44 Synonymous SNV S132S 0.025 0.029 0.017 14 29 11 0.036 5 0 1 0 0 Benign 11.92 36169 chr20 8755243 8755243 T C rs2235613 PLCB1 Synonymous SNV A996A 0.714 0.669 0.741 279 838 257 0.715 218 300 79 79 103 Benign 3.932 36170 chr20 9288522 9288522 G A rs6077510 PLCB4 Nonsynonymous SNV A21T 0.721 0.755 0.673 293 846 290 0.751 198 310 106 70 110 Benign 16.27 36171 chr9 135139901 135139901 T C rs1056899 SETX Nonsynonymous SNV I2587V 0.377 0.422 0.347 164 443 162 0.421 102 78 32 18 30 Benign 0.001 36172 chr20 9543622 9543622 C T rs2297345 PAK5 Nonsynonymous SNV S511N 0.345 0.336 0.357 140 405 129 0.359 105 76 21 21 29 14.61 36173 chr1 111957311 111957311 G C rs10067 OVGP1 Nonsynonymous SNV H604Q 0.143 0.117 0.177 42 168 45 0.108 52 11 2 6 1 1.633 36174 chr1 12837463 12837463 C T rs112368379 PRAMEF12 Synonymous SNV A391A 0.09 0.13 0.075 38 106 50 0.097 22 6 5 1 3 12.54 36175 chr20 9547018 9547018 C G rs11700112 PAK5 Nonsynonymous SNV R335P 0.138 0.135 0.122 57 162 52 0.146 36 11 4 4 5 23 36176 chr19 9047740 9047740 G A rs373775930 MUC16 Synonymous SNV T11297T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.33 36177 chr19 8056541 8056541 C G rs138730200 ELAVL1 Synonymous SNV R53R 0.009 0.003 0.003 6 11 1 0.015 1 0 0 0 0 13.65 36178 chr21 15481365 15481365 G T rs7278737 LIPI Nonsynonymous SNV T348K 0.382 0.409 0.429 174 448 157 0.446 126 87 35 28 35 0.003 36179 chr21 15516948 15516948 C T rs2822432 LIPI Nonsynonymous SNV E401K 0.316 0.305 0.401 116 371 117 0.297 118 75 21 28 22 34 36180 chr21 15516976 15516976 T A rs7283442 LIPI Nonsynonymous SNV R391S 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 13.14 36181 chr21 15918577 15918577 G C rs7281104 SAMSN1 Synonymous SNV L2L 0.295 0.271 0.259 122 346 104 0.313 76 43 13 10 21 14.21 36182 chr1 145440086 145440086 C T rs34791738 TXNIP Nonsynonymous SNV P119S 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 11.47 36183 chr21 15954528 15954528 G A rs2822785 SAMSN1 Nonsynonymous SNV H64Y 0.488 0.44 0.551 198 573 169 0.508 162 144 33 46 55 7.124 36184 chr9 135277007 135277007 C T rs3739916 TTF1 Nonsynonymous SNV R401Q 0.069 0.065 0.041 32 81 25 0.082 12 4 0 0 2 5.067 36185 chr21 15954593 15954593 G A rs2822786 SAMSN1 Nonsynonymous SNV P42L 0.344 0.318 0.255 132 404 122 0.338 75 55 19 9 24 12.09 36186 chr9 135374898 135374898 T C rs562350 CFAP77 Synonymous SNV N145N 0.479 0.5 0.507 184 562 192 0.472 149 127 48 34 43 3.747 36187 chr21 15954660 15954660 T C rs2822787 SAMSN1 Nonsynonymous SNV N20D 0.871 0.805 0.861 338 1023 309 0.867 253 442 122 109 146 0.014 36188 chr1 145560918 145560918 G A rs41296196 ANKRD35 Nonsynonymous SNV A169T 0.02 0.023 0.007 5 24 9 0.013 2 0 0 0 0 9.418 36189 chr21 16339852 16339852 T C rs139263261 NRIP1 Nonsynonymous SNV H221R 0.009 0.016 0.01 2 11 6 0.005 3 0 0 0 0 0.001 36190 chr9 135554566 135554566 G A rs371169 GTF3C4 Synonymous SNV E520E 0.327 0.357 0.364 116 384 137 0.297 107 64 27 21 15 2.405 36191 chr1 145562087 145562087 G A rs41315701 ANKRD35 Nonsynonymous SNV R502Q 0.184 0.203 0.136 52 216 78 0.133 40 19 15 5 4 5.598 36192 chr9 135763816 135763816 C T rs2073869 SPACA9 Synonymous SNV L163L 0.157 0.146 0.163 49 184 56 0.126 48 15 4 2 2 6.616 36193 chr21 16340289 16340289 C T rs2229741 NRIP1 Synonymous SNV G75G 0.437 0.435 0.432 181 513 167 0.464 127 114 37 22 36 10.02 36194 chr21 17566807 17566807 T C rs62219500 MIR99AHG 0 0 0.027 0 0 0 0 8 0 0 0 0 11.65 36195 chr1 113236681 113236681 C T rs3748656 MOV10 Synonymous SNV G394G 0.154 0.141 0.187 54 181 54 0.138 55 11 5 4 4 19.19 36196 chr21 19169155 19169155 G C rs1047978 C21orf91 Nonsynonymous SNV D136E 0.358 0.375 0.354 147 420 144 0.377 104 75 27 18 22 23.2 36197 chr1 1153113 1153113 G A rs12036216 SDF4 Synonymous SNV L328L 0.066 0.094 0.085 35 78 36 0.09 25 2 2 3 3 3.293 36198 chr1 113237171 113237171 A G rs883593 MOV10 Synonymous SNV T464T 0.154 0.141 0.187 54 181 54 0.138 55 11 5 4 4 11.24 36199 chr9 136004699 136004699 G A rs623361 RALGDS Nonsynonymous SNV R3W 0.267 0.224 0.269 112 314 86 0.287 79 38 10 9 15 25.7 36200 chr1 113239382 113239382 G A rs17030651 MOV10 Synonymous SNV E704E 0.152 0.138 0.184 54 178 53 0.138 54 10 5 3 4 10.93 36201 chr21 19169218 19169218 G C rs2824495 C21orf91 Nonsynonymous SNV N115K 0.166 0.159 0.167 63 195 61 0.162 49 15 5 4 5 0.002 36202 chr1 113241052 113241052 T C rs2306940 MOV10 Synonymous SNV A820A 0.155 0.141 0.19 54 182 54 0.138 56 11 5 4 4 7.677 36203 chr9 136037742 136037742 G A rs2073924 GBGT1 Nonsynonymous SNV L20F 0.185 0.182 0.163 98 217 70 0.251 48 18 7 2 11 15.97 36204 chr21 19670118 19670118 G A rs2824721 TMPRSS15 Nonsynonymous SNV P732S 0.767 0.729 0.765 299 901 280 0.767 225 353 105 85 116 0.12 36205 chr1 113243048 113243048 C T rs6679 MOV10 Synonymous SNV S977S 0.154 0.141 0.187 54 181 54 0.138 55 11 5 4 4 4.834 36206 chr1 146759320 146759320 C G rs2275249 CHD1L Nonsynonymous SNV S539C 0.066 0.07 0.088 25 77 27 0.064 26 6 0 1 2 30 36207 chr9 136199466 136199466 G A rs886089 SURF6 Nonsynonymous SNV R175W 0.278 0.25 0.173 102 326 96 0.262 51 49 14 6 14 0.019 36208 chr21 19756040 19756040 C G rs2824790 TMPRSS15 Nonsynonymous SNV E134Q 0.343 0.383 0.357 139 403 147 0.356 105 71 24 13 24 22.8 36209 chr21 22881251 22881251 A G rs2017705 NCAM2 Synonymous SNV T577T 0.099 0.117 0.116 38 116 45 0.097 34 6 1 3 2 2.953 36210 chr10 55780078 55780078 C T rs111033516 PCDH15 Synonymous SNV S804S 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.53 36211 chr9 136199503 136199503 G A rs886090 SURF6 Nonsynonymous SNV R163W 0.28 0.255 0.15 107 329 98 0.274 44 49 14 4 14 24.2 36212 chr1 113255456 113255456 C A rs34611728 PPM1J Nonsynonymous SNV L213F 0.1 0.089 0.105 28 117 34 0.072 31 6 1 1 4 13.08 36213 chr21 26965148 26965148 G A rs1135638 MRPL39 Synonymous SNV G299G 0.817 0.828 0.786 314 959 318 0.805 231 395 136 91 124 13.01 36214 chr21 26965205 26965205 T C rs1057885 MRPL39 Synonymous SNV V280V 0.817 0.826 0.786 314 959 317 0.805 231 395 135 91 124 10.12 36215 chr19 8196499 8196499 G A rs3813774 FBN3 Synonymous SNV C643C 0.094 0.081 0.075 37 110 31 0.095 22 5 1 1 0 1.26 36216 chr1 147091416 147091416 G A rs80312516 BCL9 Synonymous SNV R485R 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 Benign 5.372 36217 chr1 113264930 113264930 C G rs35995150 TAFA3 Synonymous SNV T25T 0.104 0.094 0.129 29 122 36 0.074 38 7 1 2 4 6.509 36218 chr21 26969703 26969703 T C rs1135618 MRPL39 Synonymous SNV K204K 0.815 0.828 0.735 314 957 318 0.805 216 395 136 90 124 0.053 36219 chr1 147096505 147096505 C T rs77650336 BCL9 Synonymous SNV P1342P 0.016 0.01 0.007 12 19 4 0.031 2 0 0 0 0 10.78 36220 chr21 26978950 26978950 A G rs3989369 MRPL39 Nonsynonymous SNV S31P 0.964 0.964 0.939 376 1132 370 0.964 276 546 178 129 181 4.86 36221 chr21 28212760 28212760 G A rs436525 ADAMTS1 Synonymous SNV P500P 0.591 0.635 0.609 235 694 244 0.603 179 207 75 56 73 12.66 36222 chr19 821542 821542 C T rs150524534 PLPPR3 Synonymous SNV E6E 0.004 0.01 0 6 5 4 0.015 0 0 1 0 0 14.33 36223 chr21 28216595 28216595 C G rs428785 ADAMTS1 Nonsynonymous SNV A227P 0.685 0.706 0.724 276 804 271 0.708 213 275 94 82 100 9.706 36224 chr19 9059181 9059181 G A rs12459532 MUC16 Nonsynonymous SNV P9422L 0.033 0.036 0.027 16 39 14 0.041 8 0 1 1 0 4.423 36225 chr1 1141934 1141934 C T rs371411514 TNFRSF18 Synonymous SNV A6A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 13.51 36226 chr1 116275561 116275561 G C rs146664754 CASQ2 Nonsynonymous SNV F189L 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 36227 chr1 15541607 15541607 T C rs3820065 TMEM51 Synonymous SNV N8N 0.191 0.219 0.238 88 224 84 0.226 70 20 6 9 9 4.678 36228 chr21 28216674 28216674 G C rs409630 ADAMTS1 Synonymous SNV V200V 0.13 0.159 0.153 49 153 61 0.126 45 12 7 6 3 12.7 36229 chr1 114280856 114280856 T C rs138071804 PHTF1 Synonymous SNV P69P 0.018 0.013 0.024 4 21 5 0.01 7 0 0 0 0 7.096 36230 chr21 28216692 28216692 G T rs445784 ADAMTS1 Synonymous SNV V194V 0.684 0.706 0.721 275 803 271 0.705 212 274 94 80 99 9.864 36231 chr1 150280546 150280546 C T rs10480 MRPS21 Nonsynonymous SNV R50C 0.038 0.021 0.017 22 45 8 0.056 5 0 0 0 0 24.5 36232 chr1 114372214 114372214 C G rs56048322 PTPN22 Nonsynonymous SNV K695N 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Uncertain significance 32 36233 chr21 28217178 28217178 T G rs434857 ADAMTS1 Synonymous SNV P32P 0.686 0.706 0.724 275 805 271 0.705 213 276 94 82 99 7.838 36234 chr21 28302355 28302355 A G rs226794 ADAMTS5 Nonsynonymous SNV L692P 0.907 0.914 0.878 362 1065 351 0.928 258 486 162 113 168 7.032 36235 chr9 136301982 136301982 C G rs2301612 ADAMTS13 Nonsynonymous SNV Q448E 0.35 0.307 0.224 139 411 118 0.356 66 69 16 13 24 Benign 0.324 36236 chr21 28305202 28305202 A G rs61750214 ADAMTS5 Synonymous SNV S617S 0.006 0.01 0.01 5 7 4 0.013 3 0 0 0 1 2.364 36237 chr21 28338298 28338298 C G rs457947 ADAMTS5 Nonsynonymous SNV G138A 0.124 0.151 0.126 48 146 58 0.123 37 6 4 4 5 12.59 36238 chr1 116609185 116609185 G A rs3748742 SLC22A15 Synonymous SNV T470T 0.066 0.083 0.048 40 78 32 0.103 14 1 1 1 2 6.428 36239 chr21 30250555 30250555 T C rs2205446 N6AMT1 Nonsynonymous SNV K138R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.48 36240 chr1 150525425 150525425 G A rs41317513 ADAMTSL4 Nonsynonymous SNV E44K 0.06 0.036 0.024 32 71 14 0.082 7 1 0 0 0 Benign 23.4 36241 chr9 136324239 136324239 C A rs1055432 ADAMTS13 Synonymous SNV T1407T 0.257 0.216 0.221 94 302 83 0.241 65 36 8 8 11 Benign 19.31 36242 chr1 117078729 117078729 A G rs35768283 CD58 Synonymous SNV P162P 0.029 0.021 0.017 13 34 8 0.033 5 0 0 0 0 0.085 36243 chr21 30250615 30250615 T C rs2205447 N6AMT1 Nonsynonymous SNV K118R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 10.04 36244 chr21 30257560 30257560 C G rs1997606 N6AMT1 Synonymous SNV L36L 0.856 0.859 0.85 332 1005 330 0.851 250 430 142 104 145 10.12 36245 chr21 30257568 30257568 T C rs1997607 N6AMT1 Nonsynonymous SNV N34D 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 7.976 36246 chr21 30332911 30332911 C T rs34635840 LTN1 Nonsynonymous SNV V747I 0.101 0.117 0.085 47 119 45 0.121 25 6 0 0 1 4.335 36247 chr19 9060915 9060915 C T rs59168469 MUC16 Nonsynonymous SNV R8844H 0.034 0.036 0.027 16 40 14 0.041 8 0 1 1 0 9.346 36248 chr21 30341891 30341891 A G rs2254796 LTN1 Nonsynonymous SNV L403S 0.604 0.607 0.616 241 709 233 0.618 181 220 71 54 71 9.417 36249 chr21 30408670 30408670 A T rs2274802 USP16 Nonsynonymous SNV Q141H 0.228 0.247 0.241 94 268 95 0.241 71 25 9 10 9 19.95 36250 chr9 136412296 136412296 C T rs2073877 ADAMTSL2 Synonymous SNV I300I 0.13 0.12 0.133 61 153 46 0.156 39 11 0 3 4 Benign 15 36251 chr21 30714776 30714776 T C rs388707 BACH1 Synonymous SNV G611G 0.462 0.448 0.429 159 542 172 0.408 126 124 38 24 35 7.504 36252 chr21 31538692 31538692 C T rs35531957 CLDN17 Nonsynonymous SNV A82T 0.128 0.115 0.119 41 150 44 0.105 35 9 2 5 0 33 36253 chr9 136561367 136561367 G A rs2502740 SARDH Synonymous SNV S595S 0.313 0.336 0.344 99 367 129 0.254 101 64 14 13 12 6.389 36254 chr9 136573412 136573412 G A rs2073815 SARDH Synonymous SNV H489H 0.504 0.555 0.595 192 592 213 0.492 175 145 55 51 51 6.331 36255 chr1 146766122 146766122 C G rs45563244 CHD1L Synonymous SNV A642A 0.01 0.021 0.014 1 12 8 0.003 4 0 0 0 0 11.28 36256 chr21 31655155 31655155 A - rs533225129 KRTAP24-1 T33Lfs*7 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 36257 chr19 9063678 9063678 T G rs2547064 MUC16 Nonsynonymous SNV D7923A 0.229 0.219 0.235 82 269 84 0.21 69 25 9 13 10 0.027 36258 chr21 31655212 31655212 A C rs1557291 KRTAP24-1 Synonymous SNV G13G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.002 36259 chr21 31661691 31661691 A G rs8127420 KRTAP25-1 Nonsynonymous SNV S40P 0.319 0.359 0.347 130 374 138 0.333 102 67 28 20 19 12.86 36260 chr1 117560818 117560818 A G rs3736908 CD101 Synonymous SNV Q551Q 0.214 0.227 0.286 91 251 87 0.233 84 26 6 15 16 0.076 36261 chr1 156314497 156314497 C T rs41265043 TSACC Nonsynonymous SNV S54L 0.036 0.036 0.031 14 42 14 0.036 9 1 0 0 0 34 36262 chr9 136899924 136899924 T C rs149702159 BRD3 Nonsynonymous SNV K655R 0.004 0 0 4 5 0 0.01 0 0 0 0 0 20.4 36263 chr1 147119257 147119257 T A rs137987097 ACP6 Nonsynonymous SNV T419S 0.018 0.016 0.02 6 21 6 0.015 6 0 0 1 0 7.694 36264 chr1 100154467 100154467 G A rs6678252 PALMD Synonymous SNV V217V 0.034 0.018 0.027 12 40 7 0.031 8 0 0 0 1 2.633 36265 chr21 31768539 31768539 G C rs9636833 KRTAP13-1 Synonymous SNV T45T 0.066 0.078 0.116 34 78 30 0.087 34 3 1 2 0 4.141 36266 chr1 117560929 117560929 C A rs3736907 CD101 Synonymous SNV I588I 0.198 0.206 0.252 72 232 79 0.185 74 22 6 12 10 13.54 36267 chr1 100154643 100154643 C T rs150035005 PALMD Nonsynonymous SNV T276M 0.01 0.003 0.003 6 12 1 0.015 1 0 0 0 0 2.781 36268 chr21 31802768 31802768 G A rs2226548 KRTAP13-4 Nonsynonymous SNV A59T 0.643 0.646 0.629 262 755 248 0.672 185 243 84 56 87 0.012 36269 chr19 9065632 9065632 T C rs1867691 MUC16 Nonsynonymous SNV I7272V 0.229 0.219 0.235 82 269 84 0.21 69 25 9 13 10 0.001 36270 chr21 31812772 31812772 C A rs2832873 KRTAP15-1 Nonsynonymous SNV L43M 0.654 0.654 0.629 262 768 251 0.672 185 253 86 56 87 24.1 36271 chr1 156354348 156354348 C - rs11303415 RHBG 0.233 0.292 0.221 100 273 112 0.256 65 25 19 7 8 36272 chr1 100318245 100318245 T G rs145049634 AGL Nonsynonymous SNV I7S 0.041 0.016 0.014 21 48 6 0.054 4 1 0 0 1 7.249 36273 chr21 31812828 31812828 C T rs35857034 KRTAP15-1 Synonymous SNV C61C 0.112 0.115 0.065 31 132 44 0.079 19 8 3 0 2 4.411 36274 chr21 31869286 31869286 T C rs2298437 KRTAP19-4 Nonsynonymous SNV Y48C 0.658 0.654 0.636 263 772 251 0.674 187 251 85 57 90 0.043 36275 chr1 100327183 100327183 T C rs2230305 AGL Synonymous SNV N69N 0.043 0.016 0.014 21 50 6 0.054 4 1 0 0 1 Benign 5.231 36276 chr9 137688741 137688741 C T rs78511105 COL5A1 Synonymous SNV G964G 0.037 0.052 0.068 24 44 20 0.062 20 0 1 1 1 Benign/Likely benign 14.38 36277 chr21 31913982 31913982 G - rs5843453 KRTAP19-6, KRTAP19-6 Y58Tfs*28 0.734 0.75 0.735 303 862 288 0.777 216 315 106 81 116 36278 chr21 31914000 31914000 T A rs1023364 KRTAP19-6 Synonymous SNV G51G 0.729 0.747 0.731 301 856 287 0.772 215 311 106 80 114 2.588 36279 chr9 137711997 137711997 G C rs2228560 COL5A1 Synonymous SNV P1494P 0.348 0.385 0.333 146 409 148 0.374 98 64 22 14 23 Benign 12.41 36280 chr1 150280550 150280550 G A rs4845 MRPS21 Nonsynonymous SNV R51Q 0.095 0.057 0.058 28 112 22 0.072 17 2 1 2 2 22.8 36281 chr21 31964916 31964916 A C rs9305426 KRTAP6-3 Nonsynonymous SNV Y51S 0.693 0.693 0.694 280 814 266 0.718 204 278 92 70 99 10.36 36282 chr1 100340782 100340782 G T rs28730701 AGL Nonsynonymous SNV K385N 0.044 0.016 0.01 21 52 6 0.054 3 2 0 0 1 Benign/Likely benign 2.503 36283 chr1 156526430 156526430 G A rs35160849 IQGAP3 Synonymous SNV D395D 0.025 0.036 0.061 10 29 14 0.026 18 0 1 0 1 1.375 36284 chr21 31973516 31973516 T A rs198915 KRTAP22-1 Nonsynonymous SNV L26H 0.963 0.938 0.963 367 1131 360 0.941 283 545 169 136 173 0.284 36285 chr1 150484004 150484004 G A rs11801190 ECM1 Synonymous SNV T287T 0.095 0.057 0.054 27 112 22 0.069 16 2 1 1 2 6.377 36286 chr1 100349983 100349983 C T rs150441555 AGL Nonsynonymous SNV S841F 0.022 0.008 0.007 13 26 3 0.033 2 1 0 0 0 Conflicting interpretations of pathogenicity 25 36287 chr1 11831595 11831595 G A rs55990971 C1orf167 Nonsynonymous SNV R571K 0.06 0.083 0.065 24 71 32 0.062 19 3 1 0 0 7.539 36288 chr21 32201866 32201866 A G rs9982755 KRTAP7-1 Nonsynonymous SNV S51P 0.428 0.443 0.425 191 503 170 0.49 125 114 32 21 47 16.18 36289 chr1 11585308 11585308 C T rs61750329 DISP3 Nonsynonymous SNV A851V 0.012 0.016 0.01 5 14 6 0.013 3 0 0 0 0 25.7 36290 chr21 32201951 32201951 A G rs9982775 KRTAP7-1 Synonymous SNV H22H 0.428 0.443 0.425 191 503 170 0.49 125 114 32 21 47 11.87 36291 chr21 32201970 32201970 A - rs35359062 KRTAP7-1 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 36292 chr21 32253513 32253513 A T rs9636845 KRTAP11-1 Nonsynonymous SNV C111S 0.134 0.107 0.126 39 157 41 0.1 37 6 4 1 1 23.7 36293 chr1 100377973 100377973 T C rs28730706 AGL Synonymous SNV A1283A 0.044 0.016 0.01 21 52 6 0.054 3 2 0 0 1 Benign 7.948 36294 chr1 11839208 11839208 C T rs41301989 C1orf167-AS1 0.062 0.086 0.017 23 73 33 0.059 5 2 1 0 0 7.293 36295 chr21 32638549 32638549 C A rs2070417 TIAM1 Nonsynonymous SNV G247V 0.124 0.117 0.163 37 145 45 0.095 48 7 4 8 2 23.1 36296 chr1 11839972 11839972 G A rs41275462 C1orf167 Nonsynonymous SNV R922Q 0.149 0.177 0.139 63 175 68 0.162 41 15 7 8 4 22.8 36297 chr1 151512895 151512895 A G rs3828054 TUFT1 Nonsynonymous SNV Q18R 0.102 0.125 0.088 34 120 48 0.087 26 6 4 0 4 13.89 36298 chr1 100575974 100575974 T C rs150364529 SASS6 Synonymous SNV Q78Q 0.024 0.008 0.007 13 28 3 0.033 2 0 0 0 0 Benign 0.106 36299 chr9 138456155 138456155 C A rs3748210 PAEP Nonsynonymous SNV Q104K 0.063 0.052 0.041 21 74 20 0.054 12 2 0 1 0 0.064 36300 chr21 32638550 32638550 C T rs2070418 TIAM1 Nonsynonymous SNV G247R 0.124 0.117 0.163 37 145 45 0.095 48 7 4 8 2 18.57 36301 chr1 151735576 151735576 T C rs7007 MRPL9 Nonsynonymous SNV E67G 0.117 0.122 0.095 49 137 47 0.126 28 15 3 1 4 14.19 36302 chr21 33694224 33694224 C G rs3761342 URB1 Nonsynonymous SNV V1791L 0.966 0.953 0.952 377 1134 366 0.967 280 549 174 133 182 0.002 36303 chr1 150789884 150789884 C T rs1805133 ARNT Nonsynonymous SNV D496N 0.012 0.008 0.003 1 14 3 0.003 1 0 0 0 0 Benign 22.7 36304 chr1 11844454 11844454 A C rs41275464 C1orf167 Nonsynonymous SNV K1077Q 0.052 0.078 0.068 23 61 30 0.059 20 3 1 0 0 0.047 36305 chr1 116666710 116666710 C T rs767832 MAB21L3 Synonymous SNV L71L 0.02 0.026 0.014 13 24 10 0.033 4 0 0 0 0 8.043 36306 chr21 33719695 33719695 C T rs2070378 URB1 Synonymous SNV K1146K 0.834 0.846 0.854 341 979 325 0.874 251 407 138 106 149 7.389 36307 chr1 150814919 150814919 C T ARNT Nonsynonymous SNV D85N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 36308 chr21 33749533 33749533 A C rs4816431 SNORA80A 0 0 0.952 0 0 0 0 280 0 0 133 0 4.12 36309 chr21 33951068 33951068 T C rs9622 C21orf59-TCP10L, TCP10L Nonsynonymous SNV H145R 0.165 0.203 0.19 66 194 78 0.169 56 11 8 7 5 0.001 36310 chr1 11710616 11710616 C T rs145470928 FBXO2 Nonsynonymous SNV E100K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 36311 chr21 33956579 33956579 T C rs2017816 TCP10L Synonymous SNV K12K 0.438 0.44 0.361 166 514 169 0.426 106 121 35 28 33 0.002 36312 chr1 100681587 100681587 A G rs146249007 DBT Nonsynonymous SNV S242P 0.028 0.01 0.003 14 33 4 0.036 1 0 0 0 0 Benign/Likely benign 1.704 36313 chr21 34003928 34003928 - AGTATT rs57257560 SYNJ1 V1319_L1320insNT 0.556 0.568 0.599 238 653 218 0.61 176 188 65 57 67 36314 chr21 34166190 34166190 A T rs74617086 C21orf62 Nonsynonymous SNV F181L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.005 36315 chr21 34166343 34166343 C T rs2231390 C21orf62 Synonymous SNV E130E 0.746 0.771 0.769 286 876 296 0.733 226 328 114 89 104 8.007 36316 chr21 34169317 34169317 - T rs72564613 C21orf62-AS1 0 0 0.779 0 0 0 0 229 0 0 92 0 36317 chr9 138642022 138642022 G A rs56008253 KCNT1 Synonymous SNV S63S 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 Benign/Likely benign 15.14 36318 chr19 9083124 9083124 G A rs12608495 MUC16 Synonymous SNV V2897V 0.205 0.219 0.207 79 241 84 0.203 61 21 8 8 5 1.826 36319 chr21 34399401 34399401 A G rs762178 OLIG2 Synonymous SNV S77S 0.559 0.563 0.578 231 656 216 0.592 170 175 66 52 70 10.7 36320 chr1 156639636 156639636 G A rs11549292 NES Synonymous SNV A1448A 0.239 0.255 0.31 96 280 98 0.246 91 29 13 11 9 11.96 36321 chr21 34614250 34614250 T C rs2229207 IFNAR2 Nonsynonymous SNV F8S 0.099 0.115 0.119 49 116 44 0.126 35 6 1 2 4 risk factor 0.055 36322 chr1 11716066 11716066 T C rs145432128 FBXO44 Synonymous SNV T58T 0.013 0.003 0.007 0 15 1 0 2 0 0 0 0 1.361 36323 chr21 34614255 34614255 T G rs1051393 IFNAR2 Nonsynonymous SNV F10V 0.393 0.38 0.374 156 461 146 0.4 110 88 26 23 30 0.003 36324 chr9 138903635 138903635 G A rs9753 NACC2 Synonymous SNV A497A 0.104 0.151 0.122 60 122 58 0.154 36 3 4 3 4 6.235 36325 chr1 11716067 11716067 G A rs150648343 FBXO44 Nonsynonymous SNV E59K 0.013 0.003 0.007 0 15 1 0 2 0 0 0 0 8.174 36326 chr21 34625037 34625037 C G rs147496374 IFNAR2 Nonsynonymous SNV T204R 0.02 0.016 0.027 14 24 6 0.036 8 0 0 0 0 Benign 29.3 36327 chr1 156640308 156640308 C T rs3748571 NES Synonymous SNV T1224T 0.237 0.26 0.31 95 278 100 0.244 91 29 13 11 9 12.77 36328 chr9 138905094 138905094 G A rs111782876 NACC2 Synonymous SNV S402S 0.011 0.01 0.007 8 13 4 0.021 2 0 0 0 0 Benign 13.9 36329 chr1 152084039 152084039 G T rs6680692 TCHH Nonsynonymous SNV R552S 0.008 0.018 0 5 9 7 0.013 0 0 0 0 0 17.5 36330 chr1 156640503 156640503 C T rs3828043 NES Synonymous SNV G1159G 0.237 0.263 0.303 95 278 101 0.244 89 29 14 10 9 10.85 36331 chr1 11907603 11907603 G A rs5064 NPPA-AS1 0.067 0.099 0.071 26 79 38 0.067 21 3 0 0 1 Benign 0.678 36332 chr9 138905136 138905136 C T rs2280486 NACC2 Synonymous SNV T388T 0.391 0.372 0.371 166 459 143 0.426 109 101 28 20 38 13.3 36333 chr21 34638031 34638031 C T rs999788 IL10RB-DT 0 0 0.129 0 0 0 0 38 0 0 7 0 5.075 36334 chr9 139094805 139094805 C T rs2274116 LHX3 Synonymous SNV A27A 0.244 0.279 0.221 116 286 107 0.297 65 33 14 9 20 Benign 19.12 36335 chr21 34640788 34640788 A G rs2834167 IL10RB Nonsynonymous SNV K47E 0.306 0.326 0.276 106 359 125 0.272 81 56 18 10 16 Benign 23.2 36336 chr1 119427454 119427454 G A rs12569041 TBX15 Synonymous SNV S570S 0.104 0.089 0.061 40 122 34 0.103 18 8 1 0 1 2.389 36337 chr1 1019383 1019383 C T rs139896904 C1orf159 Synonymous SNV P284P 0.014 0.008 0.003 12 16 3 0.031 1 0 0 0 0 0.303 36338 chr9 139100805 139100805 T C rs9696116 QSOX2 Synonymous SNV P622P 0.227 0.266 0.272 109 267 102 0.279 80 29 15 8 16 1.083 36339 chr21 34715699 34715699 G C rs2257167 IFNAR1 Nonsynonymous SNV V168L 0.178 0.146 0.18 85 209 56 0.218 53 21 3 4 8 10.37 36340 chr1 152128121 152128121 G A rs72696940 RPTN Nonsynonymous SNV S485F 0.077 0.086 0.044 25 90 33 0.064 13 5 1 0 1 0.202 36341 chr9 139110654 139110654 C T rs12684650 QSOX2 Synonymous SNV K319K 0.203 0.255 0.255 106 238 98 0.272 75 21 15 8 18 10.32 36342 chr21 34787312 34787312 A G rs9808753 IFNGR2 Nonsynonymous SNV Q64R 0.101 0.089 0.122 32 119 34 0.082 36 10 1 3 4 0.001 36343 chr9 139118673 139118673 T C rs12380852 QSOX2 Nonsynonymous SNV K126E 0.155 0.117 0.136 61 182 45 0.156 40 13 2 3 6 0.338 36344 chr21 34897113 34897113 C T rs8788 GART Nonsynonymous SNV V421I 0.703 0.703 0.731 257 825 270 0.659 215 278 96 79 80 11.95 36345 chr1 156696748 156696748 G A ISG20L2 Nonsynonymous SNV R233W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 36346 chr9 139235415 139235415 C T rs60980157 GPSM1 Nonsynonymous SNV S391L 0.235 0.245 0.224 92 276 94 0.236 66 34 11 9 8 11.43 36347 chr21 34925142 34925142 C T rs13433428 SON Nonsynonymous SNV S1202L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 12.38 36348 chr21 34926260 34926260 C T rs13047599 SON Nonsynonymous SNV R1575C 0.648 0.641 0.653 241 761 246 0.618 192 242 80 61 71 2.246 36349 chr1 151413527 151413527 G C POGZ Nonsynonymous SNV P54A 0.004 0 0 0 5 0 0 0 0 0 0 0 22.2 36350 chr1 156721861 156721861 G A rs144345646 HDGF Nonsynonymous SNV T12M 0.017 0.018 0.007 13 20 7 0.033 2 0 0 0 0 10.6 36351 chr19 929543 929543 C T rs3746144 ARID3A Synonymous SNV A5A 0.014 0.013 0.034 4 17 5 0.01 10 3 1 1 0 15.19 36352 chr21 34945721 34945721 T C rs3174808 SON Synonymous SNV N359N 0.34 0.354 0.344 147 399 136 0.377 101 67 26 16 25 1.127 36353 chr19 929741 929741 C T rs34967265 ARID3A Synonymous SNV G71G 0.052 0.047 0.068 12 61 18 0.031 20 3 1 1 0 10.12 36354 chr21 35237608 35237608 T C rs9976801 ITSN1 Synonymous SNV D1343D 0.667 0.625 0.687 269 783 240 0.69 202 268 77 71 94 1.152 36355 chr21 35260481 35260481 T C rs2073370 ITSN1 Synonymous SNV R1676R 0.562 0.544 0.612 231 660 209 0.592 180 183 59 54 72 0.036 36356 chr1 118165577 118165577 C G rs865443 TENT5C Synonymous SNV L29L 0.093 0.099 0.068 38 109 38 0.097 20 0 4 1 2 1.144 36357 chr1 152659471 152659471 T G rs3737859 LCE2B Nonsynonymous SNV I51S 0.103 0.089 0.122 39 121 34 0.1 36 10 2 1 2 13.21 36358 chr21 35281393 35281393 A G rs4591 ATP5PO Synonymous SNV N107N 0.686 0.693 0.707 269 805 266 0.69 208 272 93 73 98 0.031 36359 chr1 118165691 118165691 C G rs1630312 TENT5C Nonsynonymous SNV H67Q 0.093 0.099 0.054 38 109 38 0.097 16 0 4 1 2 not provided 22.8 36360 chr21 35467645 35467645 A G rs8129891 SLC5A3 Nonsynonymous SNV T50A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 13.23 36361 chr1 152692512 152692512 G A rs41268474 C1orf68 Nonsynonymous SNV C172Y 0.118 0.112 0.136 55 139 43 0.141 40 9 1 4 1 15.07 36362 chr1 156819216 156819216 T C rs74118779 INSRR Synonymous SNV L422L 0.023 0.026 0.027 14 27 10 0.036 8 0 0 0 0 2.516 36363 chr21 35469193 35469193 C A rs4817617 SLC5A3 Nonsynonymous SNV Q566K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.013 36364 chr1 152732174 152732174 T C rs944683 KPRP Nonsynonymous SNV V37A 0.124 0.122 0.143 58 146 47 0.149 42 10 1 5 3 9.698 36365 chr21 35742799 35742799 A G rs2234916 KCNE2 Nonsynonymous SNV T8A 0.015 0.005 0.014 1 18 2 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 36366 chr21 35893737 35893737 T C rs8131131 RCAN1 Nonsynonymous SNV R161G 0.424 0.406 0.435 164 498 156 0.421 128 112 33 31 35 3.827 36367 chr9 139277716 139277716 G A rs61731237 SNAPC4 Synonymous SNV H635H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.623 36368 chr21 36041978 36041978 A G rs7280973 CLIC6 Synonymous SNV Q97Q 0.308 0.24 0.827 132 362 92 0.338 243 181 46 121 66 0.302 36369 chr1 152732567 152732567 G A rs16834461 KPRP Nonsynonymous SNV R168H 0.133 0.133 0.156 59 156 51 0.151 46 10 3 6 3 3.754 36370 chr21 36042203 36042203 G C rs9680380 CLIC6 Synonymous SNV A172A 0.911 0.896 0.949 361 1069 344 0.926 279 534 172 139 180 10.68 36371 chr19 900951 900951 A G rs78580402 R3HDM4 Nonsynonymous SNV V118A 0.019 0.026 0.027 12 22 10 0.031 8 1 0 0 0 15.54 36372 chr21 36080290 36080290 C T rs6517254 CLIC6 Synonymous SNV F511F 0.359 0.331 0.296 138 422 127 0.354 87 81 21 13 23 13.44 36373 chr21 37507745 37507745 C T rs881711 CBR3 Synonymous SNV N85N 0.86 0.893 0.854 346 1010 343 0.887 251 438 153 107 152 15.47 36374 chr21 37518706 37518706 G A rs1056892 CBR3 Nonsynonymous SNV V244M 0.369 0.375 0.35 142 433 144 0.364 103 81 23 24 22 drug response 18.99 36375 chr1 152749008 152749008 - CAGCTCTGGGGGCTGCTG rs766160595 LCE1F G64_G65insCCSSGG 0.127 0.133 0.15 57 149 51 0.146 44 11 2 5 3 36376 chr1 152777908 152777908 C T rs2006940 LCE1C Nonsynonymous SNV C16Y 0.147 0.151 0.163 60 173 58 0.154 48 11 4 4 3 19.07 36377 chr21 37609571 37609571 T C rs2835322 DOP1B Synonymous SNV R878R 0.565 0.563 0.517 213 663 216 0.546 152 185 60 39 54 4.133 36378 chr21 37617630 37617630 T G rs4817788 DOP1B Nonsynonymous SNV C1118G 0.884 0.865 0.844 341 1038 332 0.874 248 458 142 105 150 0.002 36379 chr19 9009705 9009705 A G rs199713185 MUC16 Synonymous SNV V13007V 0.021 0.018 0.058 10 25 7 0.026 17 0 0 0 0 0.098 36380 chr1 152083325 152083325 A T rs11803731 TCHH Nonsynonymous SNV L790M 0.169 0.185 0.16 71 198 71 0.182 47 24 9 3 7 3.389 36381 chr21 37618926 37618926 G A rs138558529 DOP1B Nonsynonymous SNV D1550N 0.004 0.013 0.007 0 5 5 0 2 0 0 0 0 28.4 36382 chr21 37741929 37741929 T C rs61739929 MORC3 Synonymous SNV L684L 0.072 0.065 0.071 26 85 25 0.067 21 1 1 3 1 0.214 36383 chr19 9009711 9009711 T A rs201630664 MUC16 Synonymous SNV T13005T 0.011 0.018 0.034 4 13 7 0.01 10 0 0 0 0 0.001 36384 chr21 37758539 37758539 C T rs369391435 CHAF1B Synonymous SNV A35A 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 12.04 36385 chr21 38117040 38117040 G A rs2073416 SIM2 Synonymous SNV S393S 0.268 0.245 0.255 111 315 94 0.285 75 53 8 7 15 15.01 36386 chr19 901507 901507 A G rs77971861 R3HDM4 Nonsynonymous SNV L89P 0.019 0.026 0.031 12 22 10 0.031 9 1 0 0 0 9.201 36387 chr21 38117308 38117308 C A rs2073601 SIM2 Nonsynonymous SNV L483M 0.327 0.341 0.299 134 384 131 0.344 88 63 23 10 21 25.3 36388 chr21 38117505 38117505 C T rs2073602 SIM2 Synonymous SNV G548G 0.292 0.279 0.296 121 343 107 0.31 87 53 14 7 15 2.135 36389 chr21 38444863 38444863 C T rs2507733 PIGP Nonsynonymous SNV A9T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.777 36390 chr21 38512956 38512956 A G rs1133001 TTC3 Synonymous SNV V275V 0.471 0.479 0.439 173 553 184 0.444 129 125 45 29 30 10.53 36391 chr1 158225118 158225118 C G CD1A Stop gain Y90X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.2 36392 chr9 139390676 139390676 A C rs34152221 NOTCH1 Synonymous SNV P2505P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 0.012 36393 chr19 9024871 9024871 C T rs62118272 MUC16 Nonsynonymous SNV E12331K 0.051 0.042 0.068 21 60 16 0.054 20 0 0 1 1 18.88 36394 chr21 38528987 38528987 G A rs62223645 TTC3 Nonsynonymous SNV R202H 0.066 0.052 0.061 16 77 20 0.041 18 4 0 0 0 33 36395 chr9 139395259 139395259 G A rs2229973 NOTCH1 Synonymous SNV G1893G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 14.3 36396 chr9 139399132 139399132 C T rs2229968 NOTCH1 Nonsynonymous SNV V1671I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign/Likely benign 14.06 36397 chr21 38568009 38568009 G C rs1053966 TTC3 Nonsynonymous SNV D1029H 0.505 0.508 0.52 186 593 195 0.477 153 149 49 36 37 2.213 36398 chr1 152327437 152327667 GAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC - FLG2 S869_T945del 0.036 0.021 0.034 8 42 8 0.021 10 21 4 5 4 36399 chr19 9026257 9026257 G A rs62118274 MUC16 Synonymous SNV Y12243Y 0.051 0.042 0.071 21 60 16 0.054 21 0 0 1 1 0.264 36400 chr19 9046186 9046186 T G rs141108729 MUC16 Synonymous SNV P11815P 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 1.438 36401 chr9 139404368 139404368 G A NOTCH1 Nonsynonymous SNV A929V 0 0 0 3 0 0 0.008 0 0 0 0 0 24.8 36402 chr21 38568308 38568308 C T rs6579 TTC3 Synonymous SNV H1128H 0.472 0.482 0.459 173 554 185 0.444 135 126 45 29 30 13.77 36403 chr9 139407932 139407932 A G rs2229971 NOTCH1 Synonymous SNV N755N 0.273 0.253 0.224 104 320 97 0.267 66 33 15 9 16 Benign 0.021 36404 chr21 38580810 38580810 C G rs9976569 DSCR9 0 0 0.327 0 0 0 0 96 0 0 20 0 4.463 36405 chr1 109391662 109391662 G C rs11580913 AKNAD1 Nonsynonymous SNV L352V 0.08 0.086 0.061 32 94 33 0.082 18 4 1 0 3 0.16 36406 chr21 38580815 38580815 G T rs2835669 DSCR9 0 0 0.337 0 0 0 0 99 0 0 20 0 3.251 36407 chr9 139418260 139418260 A G rs4489420 NOTCH1 Synonymous SNV N104N 0.46 0.458 0.405 180 540 176 0.462 119 114 39 32 40 Benign 0.175 36408 chr21 38593620 38593620 G T rs13864 DSCR9 0 0 0.33 0 0 0 0 97 0 0 15 0 6.97 36409 chr1 153271621 153271621 G A rs34391119 PGLYRP3 Nonsynonymous SNV A272V 0.026 0.023 0.024 9 30 9 0.023 7 1 0 0 0 26.2 36410 chr21 38997701 38997701 G A rs702859 KCNJ6 Synonymous SNV D344D 0.697 0.682 0.653 260 818 262 0.667 192 284 91 60 90 6.587 36411 chr21 39086965 39086965 T C rs2070995 KCNJ6 Synonymous SNV P165P 0.835 0.826 0.82 325 980 317 0.833 241 412 131 97 134 0.008 36412 chr21 39671476 39671476 G A rs2230033 KCNJ15 Nonsynonymous SNV G98D 0.474 0.497 0.456 182 557 191 0.467 134 131 50 35 38 0.005 36413 chr21 40191431 40191431 T G rs457705 ETS2 Synonymous SNV T272T 0.811 0.797 0.803 310 952 306 0.795 236 383 121 95 120 2.469 36414 chr21 40191638 40191638 A G rs461155 ETS2 Synonymous SNV P341P 0.811 0.797 0.803 310 952 306 0.795 236 383 121 95 120 1.729 36415 chr21 40552307 40552307 A G rs3171465 PSMG1 Synonymous SNV A99A 0.458 0.479 0.466 161 538 184 0.413 137 124 49 33 27 10.63 36416 chr21 40571246 40571246 A G rs1041439 BRWD1 Nonsynonymous SNV L1699P 0.948 0.93 0.912 347 1113 357 0.89 268 528 165 121 154 0.003 36417 chr9 139636343 139636343 C T rs149777062 LCN10 Nonsynonymous SNV A83T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.5 36418 chr21 40574305 40574305 A G rs2183573 BRWD1 Nonsynonymous SNV S1511P 0.543 0.568 0.561 201 637 218 0.515 165 178 66 52 48 22.9 36419 chr19 9049339 9049339 C T rs11883220 MUC16 Synonymous SNV T10764T 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 11.72 36420 chr9 139643023 139643023 G A rs1360879 LOC100128593 0.118 0.089 0.133 50 139 34 0.128 39 15 2 5 4 1.471 36421 chr21 40584598 40584598 C T rs6517529 BRWD1 Synonymous SNV R1298R 0.94 0.914 0.898 346 1104 351 0.887 264 526 164 121 154 15.49 36422 chr21 40686020 40686020 C T rs35994303 BRWD1-AS2 0 0 0.463 0 0 0 0 136 0 0 32 0 9.759 36423 chr1 100672079 100672079 G A DBT Synonymous SNV L377L 0.004 0 0 0 5 0 0 0 0 0 0 0 9.074 36424 chr21 40686078 40686078 G C rs9981301 BRWD1-AS2 0 0 0.544 0 0 0 0 160 0 0 48 0 3.734 36425 chr21 40686327 40686327 T C rs4624474 BRWD1-AS2 0 0 0.541 0 0 0 0 159 0 0 50 0 7.776 36426 chr1 153941514 153941514 C T rs11264743 CREB3L4 Nonsynonymous SNV P95S 0.361 0.398 0.361 145 424 153 0.372 106 78 30 21 24 24.4 36427 chr21 40695042 40695042 C T rs9981656 BRWD1-AS1 0 0 0.912 0 0 0 0 268 0 0 121 0 6.587 36428 chr21 40720494 40720494 C T rs34613278 HMGN1 Nonsynonymous SNV A9T 0.099 0.104 0.122 38 116 40 0.097 36 8 5 2 2 20.9 36429 chr1 153994647 153994647 C T rs11264875 NUP210L Nonsynonymous SNV V1491I 0.322 0.349 0.333 134 378 134 0.344 98 65 25 19 18 28.6 36430 chr1 158626378 158626378 C T rs857691 SPTA1 Synonymous SNV L958L 0.236 0.242 0.252 89 277 93 0.228 74 39 15 7 9 Benign 9.484 36431 chr21 40823981 40823981 G A rs6517549 SH3BGR Nonsynonymous SNV D50N 0.975 0.977 0.969 374 1145 375 0.959 285 558 183 139 180 11.03 36432 chr1 158631171 158631171 A C rs2518493 SPTA1 Synonymous SNV L831L 0.226 0.229 0.235 86 265 88 0.221 69 35 14 6 9 Benign 0.025 36433 chr21 40969621 40969621 C T rs661650 B3GALT5-AS1 0 0 0.306 0 0 0 0 90 0 0 19 0 3.135 36434 chr21 40969826 40969826 G C rs662571 B3GALT5-AS1 0 0 0.997 0 0 0 0 293 0 0 146 0 0.343 36435 chr1 154296076 154296076 T C rs1194610 AQP10 Synonymous SNV T167T 0.216 0.208 0.15 90 253 80 0.231 44 25 10 8 10 0.015 36436 chr21 40977763 40977763 C T rs73360110 B3GALT5-AS1 0 0 0.184 0 0 0 0 54 0 0 8 0 0.063 36437 chr21 40977826 40977826 A G rs506382 B3GALT5-AS1 0 0 0.561 0 0 0 0 165 0 0 47 0 0.089 36438 chr1 15430666 15430666 G A rs111675679 KAZN Nonsynonymous SNV A677T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 20.2 36439 chr1 103444970 103444970 A T rs141548164 COL11A1 Nonsynonymous SNV F744I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.2 36440 chr21 40978115 40978115 C T rs78905016 B3GALT5-AS1 0 0 0.184 0 0 0 0 54 0 0 8 0 2.948 36441 chr21 41032740 41032740 T C rs3746887 B3GALT5 Nonsynonymous SNV M85T 0.801 0.841 0.85 303 940 323 0.777 250 380 137 105 115 0.001 36442 chr21 41032804 41032804 G A rs734413 B3GALT5 Synonymous SNV T106T 0.796 0.839 0.847 300 935 322 0.769 249 376 137 104 113 9.192 36443 chr10 72513720 72513720 G A rs182603055 ADAMTS14 Nonsynonymous SNV R965Q 0 0 0 0 0 0 0 0 0 0 0 0 27.8 36444 chr21 41137499 41137499 A G rs12626544 IGSF5 Synonymous SNV Q46Q 0.367 0.336 0.32 141 431 129 0.362 94 83 18 10 25 0.02 36445 chr21 41137507 41137507 G C rs2205204 IGSF5 Nonsynonymous SNV R49T 0.733 0.734 0.697 289 861 282 0.741 205 313 103 77 113 0.036 36446 chr1 119929268 119929268 G A rs35295280 HAO2 Synonymous SNV Q195Q 0.014 0.013 0.01 11 17 5 0.028 3 0 0 0 0 0.861 36447 chr21 41142940 41142940 G A rs2837200 IGSF5 Synonymous SNV P172P 0.247 0.245 0.269 107 290 94 0.274 79 42 14 10 16 9.87 36448 chr1 107867518 107867518 G A rs142977353 NTNG1 Synonymous SNV A287A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.92 36449 chr21 41165462 41165462 C A rs2837225 IGSF5 Nonsynonymous SNV D350E 0.315 0.279 0.286 128 370 107 0.328 84 62 11 9 23 0.004 36450 chr21 41414597 41414597 C T DSCAM Nonsynonymous SNV R1796Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 36451 chr21 41559182 41559182 G A rs2297267 DSCAM Synonymous SNV P885P 0.013 0.013 0.024 7 15 5 0.018 7 0 0 0 0 10.18 36452 chr21 41725630 41725630 G C rs2297270 DSCAM Nonsynonymous SNV D232E 0.087 0.081 0.099 30 102 31 0.077 29 1 4 0 1 0.002 36453 chr1 1203271 1203271 G A rs34496935 UBE2J2 Synonymous SNV A34A 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 7.999 36454 chr21 42551626 42551626 G A rs16998089 PLAC4 0.032 0.031 0.054 21 38 12 0.054 16 0 2 1 0 1.789 36455 chr21 42812891 42812891 C T rs467960 MX1 Synonymous SNV I223I 0.541 0.513 0.527 204 635 197 0.523 155 159 49 43 45 21.2 36456 chr21 42817930 42817930 G A rs469390 MX1 Nonsynonymous SNV V379I 0.569 0.56 0.558 213 668 215 0.546 164 175 57 48 49 2.331 36457 chr1 108703834 108703834 C T rs11185293 SLC25A24 Synonymous SNV E160E 0.059 0.036 0.075 28 69 14 0.072 22 2 0 1 1 16.97 36458 chr9 139837918 139837918 G A rs145640873 FBXW5 Synonymous SNV D78D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.08 36459 chr9 139839904 139839904 T G rs2071006 C8G Synonymous SNV A44A 0.572 0.583 0.588 232 671 224 0.595 173 186 66 52 73 9.707 36460 chr21 42821113 42821113 T C rs2070229 MX1 Synonymous SNV R441R 0.345 0.336 0.401 131 405 129 0.336 118 77 20 18 20 6.457 36461 chr21 42845383 42845383 A G rs17854725 TMPRSS2 Synonymous SNV I293I 0.51 0.536 0.507 202 599 206 0.518 149 149 53 25 52 0.129 36462 chr1 146714392 146714392 G T rs1890042 CHD1L Synonymous SNV A13A 0.167 0.133 0.109 69 196 51 0.177 32 42 7 12 13 10.03 36463 chr21 42852435 42852435 G A rs61735789 TMPRSS2 Synonymous SNV Y217Y 0.023 0.023 0.024 9 27 9 0.023 7 0 0 0 0 Benign 0.503 36464 chr21 42866296 42866296 T C rs3787950 TMPRSS2 Synonymous SNV T112T 0.118 0.115 0.136 56 139 44 0.144 40 9 1 3 2 0.01 36465 chr21 42879909 42879909 C A rs75603675 TMPRSS2 Nonsynonymous SNV G8V 0.318 0.263 0.187 107 373 101 0.274 55 101 24 15 23 11.05 36466 chr1 158813819 158813819 A G rs857870 MNDA Synonymous SNV P159P 0.543 0.513 0.544 244 638 197 0.626 160 175 56 46 76 0.009 36467 chr19 9060656 9060656 C T rs2216663 MUC16 Synonymous SNV E8930E 0.226 0.214 0.235 82 265 82 0.21 69 24 9 13 10 7.999 36468 chr9 139849843 139849843 G A rs55888789 LCN12 Nonsynonymous SNV V191I 0.113 0.107 0.085 66 133 41 0.169 25 9 1 1 4 0.009 36469 chr1 146765379 146765379 A G rs148434783 CHD1L Nonsynonymous SNV I623V 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 14.34 36470 chr21 43133145 43133145 A G rs6586229 LINC00479 0 0 0.469 0 0 0 0 138 0 0 29 0 0.67 36471 chr21 43133829 43133829 A G rs2838096 LINC00479 0 0 0.378 0 0 0 0 111 0 0 27 0 4.669 36472 chr1 154842199 154842199 - GCTGCT rs56352724 KCNN3 Q80_P81insQQ 0.029 0.008 0 9 34 3 0.023 0 5 0 0 0 36473 chr1 154842199 154842199 - GCTGCTGCTGCTGCTGCT rs3831942 KCNN3 Q80_P81insQQQQQQ 0.09 0.057 0.007 44 106 22 0.113 2 18 1 1 6 36474 chr21 43161022 43161022 C T rs7276592 RIPK4 Synonymous SNV T777T 0.516 0.531 0.473 211 606 204 0.541 139 157 53 34 56 Benign 0.312 36475 chr21 43161357 43161357 T C rs3746891 RIPK4 Nonsynonymous SNV M666V 0.994 0.987 0.966 388 1167 379 0.995 284 580 187 137 193 Benign 0.284 36476 chr1 1226971 1226971 T C rs75670559 SCNN1D Nonsynonymous SNV L797P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 36477 chr1 153233701 153233701 A C rs1143390 LOR Synonymous SNV G92G 0.161 0.133 0.197 52 189 51 0.133 58 79 20 26 20 0.001 36478 chr21 43161805 43161805 G A rs2838113 RIPK4 Synonymous SNV D516D 0.685 0.69 0.639 274 804 265 0.703 188 273 97 58 95 Benign 0.553 36479 chr9 139910291 139910291 C T rs770229465 ABCA2 Nonsynonymous SNV R1117Q 0 0 0 3 0 0 0.008 0 0 0 0 0 29.3 36480 chr21 43161877 43161877 C T rs3746893 RIPK4 Synonymous SNV A492A 0.51 0.521 0.483 209 599 200 0.536 142 153 51 34 54 Benign 13.12 36481 chr21 43162150 43162150 G A rs3746894 RIPK4 Synonymous SNV G401G 0.51 0.521 0.483 210 599 200 0.538 142 152 51 34 55 Benign 2.202 36482 chr21 43164232 43164232 C A rs2277789 RIPK4 Synonymous SNV L335L 0.472 0.484 0.425 183 554 186 0.469 125 131 47 27 43 Benign 13.21 36483 chr21 43221483 43221483 A G rs3850706 PRDM15 Nonsynonymous SNV S1152P 0.994 0.997 0.99 389 1167 383 0.997 291 580 191 144 194 0.038 36484 chr1 149878407 149878407 G A rs149735232 SV2A Synonymous SNV D12D 0.031 0.026 0.037 13 36 10 0.033 11 0 0 0 1 10.33 36485 chr21 43221826 43221826 T C rs2236696 PRDM15 Synonymous SNV L1037L 0.672 0.698 0.704 284 789 268 0.728 207 264 96 75 101 0.015 36486 chr19 9063935 9063935 G A rs2252675 MUC16 Synonymous SNV S7837S 0.227 0.216 0.235 82 266 83 0.21 69 25 9 13 10 5.316 36487 chr21 43239972 43239972 A G rs28477638 PRDM15 Synonymous SNV N779N 0.854 0.849 0.81 343 1003 326 0.879 238 432 138 93 151 0.135 36488 chr21 43254623 43254623 C G rs113774580 PRDM15 Nonsynonymous SNV D510H 0.049 0.07 0.058 25 58 27 0.064 17 2 3 0 0 17.55 36489 chr1 12422803 12422803 G A rs769010867 VPS13D Nonsynonymous SNV R3365Q 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 23.8 36490 chr9 139943429 139943429 G A rs7873815 ENTPD2 Synonymous SNV D393D 0.313 0.276 0.231 139 368 106 0.356 68 54 13 9 27 5.45 36491 chr21 43256252 43256252 C T rs4920098 PRDM15 Synonymous SNV Q453Q 0.591 0.497 0.568 217 694 191 0.556 167 200 53 45 68 11.23 36492 chr21 43267260 43267260 C T rs2277793 PRDM15 Synonymous SNV E230E 0.724 0.68 0.673 274 850 261 0.703 198 309 96 66 98 13.13 36493 chr9 139964447 139964447 G C rs71483301 SAPCD2 Nonsynonymous SNV R156G 0.197 0.18 0.034 83 231 69 0.213 10 46 16 4 19 23.1 36494 chr21 43327856 43327856 A G rs3746906 C2CD2 Synonymous SNV F197F 0.65 0.654 0.571 243 763 251 0.623 168 253 82 43 78 9.676 36495 chr21 43413731 43413731 C T rs915837 ZBTB21 Synonymous SNV A158A 0.746 0.742 0.718 282 876 285 0.723 211 329 108 76 100 19.51 36496 chr9 139964450 139964450 C T rs71483302 SAPCD2 Nonsynonymous SNV A155T 0.196 0.172 0.034 80 230 66 0.205 10 45 15 4 18 8.769 36497 chr21 43504228 43504228 T C rs7278485 UMODL1 Synonymous SNV P118P 0.659 0.633 0.592 234 774 243 0.6 174 260 80 53 66 0.034 36498 chr1 150234657 150234657 G T rs34714364 CA14 Synonymous SNV G119G 0.131 0.138 0.177 61 154 53 0.156 52 10 4 7 5 7.453 36499 chr21 43510427 43510427 T C rs67055914 UMODL1 Synonymous SNV Y270Y 0.208 0.219 0.211 72 244 84 0.185 62 20 6 8 12 0.002 36500 chr21 43510437 43510437 A C rs17114359 UMODL1 Nonsynonymous SNV N274H 0.204 0.219 0.197 72 239 84 0.185 58 20 6 8 12 7.637 36501 chr1 1259973 1259973 C T rs780119456 INTS11 Nonsynonymous SNV V6I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.45 36502 chr1 150484844 150484844 A T rs151102225 ECM1 Nonsynonymous SNV D242V 0.006 0.008 0.007 3 7 3 0.008 2 0 0 0 0 Benign/Likely benign 24.8 36503 chr1 155279846 155279846 C T rs143038155 FDPS Synonymous SNV S63S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.01 36504 chr21 43522349 43522349 T C rs220109 UMODL1 Synonymous SNV S420S 0.538 0.609 0.568 223 632 234 0.572 167 166 70 45 60 0.022 36505 chr21 43523941 43523941 C A rs220111 UMODL1-AS1 0.35 0.37 0.367 156 411 142 0.4 108 72 22 19 30 13.56 36506 chr19 9071579 9071579 T G rs376037407 MUC16 Synonymous SNV S5289S 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 0.18 36507 chr21 43523972 43523972 G C rs11701371 UMODL1-AS1 0.235 0.266 0.235 83 276 102 0.213 69 34 17 9 14 0.176 36508 chr21 43531008 43531008 T C rs220126 UMODL1 Nonsynonymous SNV M559T 0.766 0.771 0.755 307 899 296 0.787 222 351 111 77 121 0.002 36509 chr1 159505101 159505101 G A rs35393723 OR10J5 Nonsynonymous SNV R233W 0.157 0.156 0.15 70 184 60 0.179 44 17 8 6 4 0.972 36510 chr21 43531403 43531403 C G rs220127 UMODL1 Nonsynonymous SNV R619G 0.767 0.773 0.735 308 900 297 0.79 216 352 112 73 121 1.423 36511 chr9 140064315 140064315 C A rs7019671 LRRC26 Nonsynonymous SNV Q27H 0.271 0.242 0.299 118 318 93 0.303 88 86 21 17 24 13.56 36512 chr1 1268159 1268159 C T rs3813210 TAS1R3 Synonymous SNV P416P 0.031 0.031 0.037 22 36 12 0.056 11 0 0 0 1 11.18 36513 chr1 155699118 155699118 T C rs4933 DAP3 Synonymous SNV L234L 0.037 0.029 0.051 10 43 11 0.026 15 2 0 0 0 1.703 36514 chr21 43531553 43531553 A C rs220128 UMODL1 Nonsynonymous SNV T669P 0.469 0.461 0.446 212 551 177 0.544 131 134 39 26 61 0.002 36515 chr1 155706817 155706817 G C rs150623601 DAP3 Nonsynonymous SNV Q324H 0.003 0 0 0 4 0 0 0 0 0 0 0 15.04 36516 chr21 43531632 43531632 T C rs220129 UMODL1 Nonsynonymous SNV I695T 0.784 0.784 0.782 319 920 301 0.818 230 369 116 85 131 0.002 36517 chr9 140064376 140064376 G A rs77712801 LRRC26 Nonsynonymous SNV S7L 0.035 0.034 0.061 22 41 13 0.056 18 3 2 2 5 7.325 36518 chr19 9072313 9072313 A G rs2121133 MUC16 Nonsynonymous SNV S5045P 0.226 0.216 0.231 82 265 83 0.21 68 24 9 13 10 2.806 36519 chr1 159785413 159785413 C T rs61823162 FCRL6 Stop gain Q423X 0.144 0.159 0.133 57 169 61 0.146 39 11 4 2 6 28 36520 chr21 43531808 43531808 A C rs220130 UMODL1 Nonsynonymous SNV T754P 0.204 0.221 0.194 84 240 85 0.215 57 21 6 2 12 8.65 36521 chr1 159785425 159785425 A G rs4443889 FCRL6 Nonsynonymous SNV S427G 0.227 0.24 0.194 80 266 92 0.205 57 33 7 4 12 0.003 36522 chr1 150599849 150599849 C T rs78646592 ENSA Nonsynonymous SNV V93I 0.007 0.016 0.014 3 8 6 0.008 4 0 0 0 0 12.61 36523 chr19 9072742 9072742 T C rs2591590 MUC16 Nonsynonymous SNV I4902V 0.227 0.216 0.231 82 266 83 0.21 68 25 9 13 10 5.888 36524 chr21 43539293 43539293 G A rs220146 UMODL1 Nonsynonymous SNV V906I 0.235 0.258 0.265 120 276 99 0.308 78 30 7 11 16 0.002 36525 chr9 140128085 140128085 T C rs28407527 SLC34A3 Synonymous SNV L253L 0.46 0.477 0.466 164 540 183 0.421 137 115 46 32 29 Benign 4.379 36526 chr21 43547788 43547788 T C rs220158 UMODL1 Synonymous SNV P1235P 0.945 0.917 0.935 371 1110 352 0.951 275 524 162 129 176 0.002 36527 chr1 109839738 109839738 C A rs3850615 MYBPHL Synonymous SNV P168P 0.064 0.034 0.061 10 75 13 0.026 18 1 0 2 0 19.97 36528 chr21 43786540 43786540 G A rs34795821 TFF1 Nonsynonymous SNV T22I 0.02 0.021 0.017 3 24 8 0.008 5 0 0 0 0 9.203 36529 chr19 9074950 9074950 G T rs2591591 MUC16 Nonsynonymous SNV H4166N 0.227 0.216 0.235 83 266 83 0.213 69 24 9 13 11 0.359 36530 chr1 1354515 1354515 C G rs904589 ANKRD65 Nonsynonymous SNV E389Q 0.079 0.057 0.085 40 93 22 0.103 25 3 0 2 3 0.006 36531 chr21 43805637 43805637 C T rs2839501 TMPRSS3 Synonymous SNV V24V 0.369 0.352 0.361 155 433 135 0.397 106 86 23 16 26 Benign 7.793 36532 chr9 140146225 140146225 C T rs746830820 STPG3 Nonsynonymous SNV P49L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.38 36533 chr1 1354594 1354594 A G rs3766165 ANKRD65 Synonymous SNV T362T 0.077 0.055 0.075 39 90 21 0.1 22 3 0 1 3 0.017 36534 chr21 43824106 43824106 A G rs2277798 UBASH3A Nonsynonymous SNV S18G 0.664 0.68 0.622 258 780 261 0.662 183 249 88 61 83 4.102 36535 chr19 9075217 9075217 T A rs2547068 MUC16 Nonsynonymous SNV T4077S 0.228 0.216 0.238 82 268 83 0.21 70 26 9 13 10 0.188 36536 chr1 1361633 1361633 G A rs12022947 TMEM88B Synonymous SNV S42S 0.091 0.107 0.02 50 107 41 0.128 6 3 4 1 3 9.071 36537 chr9 140147273 140147273 C T rs61759822 STPG3 Nonsynonymous SNV L218F 0.124 0.122 0.133 39 146 47 0.1 39 5 1 3 3 16.76 36538 chr21 43824123 43824123 G C rs2277799 UBASH3A Synonymous SNV S23S 0.372 0.339 0.384 127 437 130 0.326 113 77 16 29 21 10.19 36539 chr1 1361641 1361641 C T rs12030806 TMEM88B Nonsynonymous SNV P45L 0.178 0.164 0.044 96 209 63 0.246 13 18 10 4 8 5.814 36540 chr21 43824136 43824136 C T rs2277800 UBASH3A Nonsynonymous SNV L28F 0.034 0.034 0.02 9 40 13 0.023 6 1 0 0 0 27.9 36541 chr1 159923904 159923904 A C rs145274502 SLAMF9 Synonymous SNV L8L 0.032 0.036 0.034 12 38 14 0.031 10 0 0 0 0 0.001 36542 chr1 1374834 1374834 A G rs1892289 VWA1 Synonymous SNV P335P 0.107 0.076 0.197 52 126 29 0.133 58 15 9 11 6 0.045 36543 chr19 9075584 9075584 T A rs2547069 MUC16 Synonymous SNV T3954T 0.225 0.216 0.231 83 264 83 0.213 68 23 9 13 11 3.084 36544 chr21 43852232 43852232 C T rs13052676 UBASH3A Synonymous SNV S359S 0.357 0.378 0.306 156 419 145 0.4 90 70 27 13 26 18.52 36545 chr1 156025096 156025096 C T rs7541 LAMTOR2 Synonymous SNV Y37Y 0.168 0.141 0.177 74 197 54 0.19 52 15 6 5 3 15.6 36546 chr21 43854985 43854985 A C rs17114925 UBASH3A Synonymous SNV P400P 0.131 0.112 0.109 45 154 43 0.115 32 4 3 0 1 0.006 36547 chr19 9075635 9075635 G A rs2547070 MUC16 Synonymous SNV S3937S 0.226 0.214 0.231 83 265 82 0.213 68 24 9 13 11 3.116 36548 chr1 156105028 156105028 T C rs538089 LMNA Synonymous SNV A175A 0.118 0.13 0.129 41 139 50 0.105 38 5 3 5 3 Benign 10.1 36549 chr21 43863521 43863521 A G rs868092 UBASH3A Synonymous SNV P539P 0.675 0.604 0.67 242 792 232 0.621 197 261 72 71 71 0.026 36550 chr19 9075969 9075969 C T rs2591593 MUC16 Nonsynonymous SNV G3826E 0.227 0.216 0.238 82 267 83 0.21 70 25 9 13 10 5.198 36551 chr21 43905887 43905887 C T rs2839536 RSPH1 Synonymous SNV A93A 0.35 0.388 0.323 138 411 149 0.354 95 74 31 15 23 Benign 17.83 36552 chr1 156106185 156106185 T C rs505058 LMNA Synonymous SNV D334D 0.119 0.133 0.082 40 140 51 0.103 24 5 3 4 3 Benign 5.311 36553 chr1 151011325 151011325 C T rs61751619 BNIPL Nonsynonymous SNV R4C 0.101 0.109 0.112 37 118 42 0.095 33 4 2 2 0 34 36554 chr21 43967217 43967217 G A rs140378762 SLC37A1 Synonymous SNV P245P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.048 36555 chr21 43985955 43985955 G A rs228104 SLC37A1 Nonsynonymous SNV V414I 0.843 0.839 0.84 339 990 322 0.869 247 415 135 109 147 6.371 36556 chr19 9076083 9076083 G A rs2547072 MUC16 Nonsynonymous SNV T3788I 0.227 0.214 0.238 82 267 82 0.21 70 26 9 13 10 0.049 36557 chr21 44180443 44180443 C T rs13047953 PDE9A Synonymous SNV C84C 0.394 0.388 0.422 152 463 149 0.39 124 93 28 26 26 11.98 36558 chr1 156146640 156146640 G A rs41265017 SEMA4A Nonsynonymous SNV R581Q 0.078 0.073 0.082 29 92 28 0.074 24 3 0 1 2 Benign/Likely benign 21 36559 chr19 9076163 9076163 C T rs2547073 MUC16 Synonymous SNV Q3761Q 0.227 0.216 0.238 82 266 83 0.21 70 24 9 13 10 4.936 36560 chr21 44371114 44371114 T C rs451887 MIR5692B 0 0 0.823 0 0 0 0 242 0 0 107 0 1.415 36561 chr19 9076278 9076278 G A rs953551 MUC16 Nonsynonymous SNV T3723M 0.256 0.253 0.255 96 300 97 0.246 75 35 12 15 14 2.042 36562 chr21 44430325 44430325 T C rs234781 PKNOX1 Synonymous SNV T114T 0.873 0.831 0.884 334 1025 319 0.856 260 476 145 115 153 8.779 36563 chr21 44485350 44485350 G A rs234706 CBS, CBSL Synonymous SNV Y128Y 0.328 0.331 0.303 116 385 127 0.297 89 60 17 11 19 Benign 8.529 36564 chr19 9076728 9076728 C T rs2591594 MUC16 Nonsynonymous SNV R3573H 0.228 0.216 0.238 83 268 83 0.213 70 26 9 13 11 1.013 36565 chr21 44589215 44589215 C T rs872331 CRYAA, CRYAA2 Synonymous SNV D2D 0.569 0.583 0.609 233 668 224 0.597 179 185 65 55 65 Benign 14.93 36566 chr21 44837551 44837551 G A rs430552 SIK1, SIK1B Synonymous SNV P616P 0.768 0.763 0.789 308 902 293 0.79 232 353 114 95 120 Benign 7.548 36567 chr1 156214601 156214601 G A rs62001925 PAQR6 Nonsynonymous SNV S15L 0.033 0.016 0.014 12 39 6 0.031 4 1 0 0 0 16.77 36568 chr21 44837555 44837555 G A rs430554 SIK1, SIK1B Nonsynonymous SNV A615V 0.856 0.865 0.881 335 1005 332 0.859 259 435 144 114 142 Benign 12.34 36569 chr19 9076858 9076858 C T rs2547074 MUC16 Nonsynonymous SNV V3530I 0.227 0.216 0.238 82 267 83 0.21 70 25 9 13 10 3.665 36570 chr1 156214641 156214641 C A rs34514408 PAQR6 Nonsynonymous SNV A2S 0.033 0.016 0.014 13 39 6 0.033 4 1 0 0 0 21 36571 chr21 44846016 44846016 C T rs3746951 SIK1, SIK1B Nonsynonymous SNV G15S 0.296 0.318 0.303 123 347 122 0.315 89 47 20 12 17 Benign 13.65 36572 chr19 9076929 9076929 T G rs2547075 MUC16 Nonsynonymous SNV K3506T 0.227 0.216 0.238 82 267 83 0.21 70 25 9 13 10 0.34 36573 chr1 160616703 160616703 G T rs2295612 SLAMF1 Nonsynonymous SNV F11L 0.239 0.203 0.116 71 280 78 0.182 34 36 8 5 8 0.047 36574 chr21 44985202 44985202 G A rs9637217 H2BS1 Nonsynonymous SNV R28K 0.224 0.208 0.262 98 263 80 0.251 77 0 0 4 0 6.951 36575 chr1 156230272 156230272 C T rs35831149 SMG5 Synonymous SNV T705T 0.033 0.016 0.014 12 39 6 0.031 4 1 0 0 0 10.26 36576 chr21 44985272 44985272 C T rs9637218 H2BS1 Synonymous SNV P51P 0.521 0.56 0.466 217 612 215 0.556 137 171 64 32 58 9.922 36577 chr1 151315287 151315287 G C rs2233854 RFX5 Nonsynonymous SNV P409R 0.118 0.112 0.146 43 139 43 0.11 43 7 2 5 3 Benign/Likely benign 15.46 36578 chr19 9076950 9076950 C A rs2547076 MUC16 Nonsynonymous SNV R3499M 0.227 0.216 0.238 82 267 83 0.21 70 25 9 13 10 4.638 36579 chr21 44985473 44985473 C T rs2838315 H2BS1 Synonymous SNV A118A 0.506 0.526 0.5 209 594 202 0.536 147 163 57 36 54 10.27 36580 chr1 112525085 112525085 G A rs17221819 KCND3 Synonymous SNV P88P 0.109 0.122 0.133 36 128 47 0.092 39 6 3 1 1 Benign 5.988 36581 chr1 156235800 156235800 G A rs34377219 SMG5 Nonsynonymous SNV R497W 0.033 0.016 0.014 12 39 6 0.031 4 1 0 0 0 Benign 25.6 36582 chr21 45096206 45096206 G A rs2155722 RRP1B Synonymous SNV A201A 0.609 0.669 0.588 248 715 257 0.636 173 224 91 48 80 9.934 36583 chr21 45107518 45107518 A G rs7279959 RRP1B Synonymous SNV P421P 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 3.356 36584 chr1 112533520 112533520 T G rs61742877 LINC01750 0.105 0.115 0.109 37 123 44 0.095 32 6 2 1 1 7.476 36585 chr21 45107562 45107562 T C rs9306160 RRP1B Nonsynonymous SNV L436P 0.601 0.641 0.619 249 705 246 0.638 182 220 82 55 82 0.007 36586 chr19 9076991 9076991 C T rs2591595 MUC16 Synonymous SNV A3485A 0.227 0.216 0.238 82 267 83 0.21 70 25 9 13 10 11.46 36587 chr9 140356422 140356422 G C rs28452008 PNPLA7 Synonymous SNV L1214L 0.334 0.336 0.347 134 392 129 0.344 102 68 25 22 19 0.522 36588 chr1 112533746 112533746 C T rs61746626 LINC01750 0.1 0.109 0.116 37 117 42 0.095 34 5 2 0 1 11.96 36589 chr1 160654758 160654758 C G rs2295615 CD48 Nonsynonymous SNV E102Q 0.131 0.096 0.129 30 154 37 0.077 38 13 3 1 1 22.9 36590 chr19 9077060 9077060 C T rs2591596 MUC16 Synonymous SNV V3462V 0.227 0.216 0.238 82 267 83 0.21 70 25 9 13 10 7.916 36591 chr21 45168884 45168884 G A rs11539534 PDXK Synonymous SNV P89P 0.155 0.151 0.146 63 182 58 0.162 43 10 3 6 5 10.14 36592 chr9 140357943 140357943 G A rs78550888 PNPLA7 Synonymous SNV S1064S 0.082 0.089 0.099 37 96 34 0.095 29 1 0 1 1 10.74 36593 chr1 151733327 151733327 T C rs74228558 MRPL9 Nonsynonymous SNV I179V 0.043 0.052 0.065 35 50 20 0.09 19 3 2 2 5 23.3 36594 chr1 160654786 160654786 G A rs1980606 CD48 Synonymous SNV G92G 0.239 0.203 0.255 91 280 78 0.233 75 35 6 8 6 8.511 36595 chr21 45217559 45217559 T C rs2838378 RRP1 Synonymous SNV I200I 0.5 0.531 0.548 190 587 204 0.487 161 156 58 46 52 0.034 36596 chr19 9077264 9077264 T G rs1862461 MUC16 Synonymous SNV V3394V 0.228 0.216 0.238 82 268 83 0.21 70 26 9 13 10 1.503 36597 chr21 45217929 45217929 T C rs2838379 RRP1 Synonymous SNV G253G 0.314 0.323 0.357 128 369 124 0.328 105 52 31 19 25 0.103 36598 chr1 111060752 111060752 C T rs34970857 KCNA10 Nonsynonymous SNV V220M 0.095 0.06 0.082 19 111 23 0.049 24 5 0 1 1 21.3 36599 chr19 9077436 9077436 G A rs1862462 MUC16 Nonsynonymous SNV S3337L 0.228 0.214 0.238 82 268 82 0.21 70 26 9 13 10 0.605 36600 chr21 45220483 45220483 A G rs915770 RRP1 Nonsynonymous SNV K326R 0.235 0.25 0.262 95 276 96 0.244 77 27 17 9 10 21.5 36601 chr19 9077803 9077803 T C rs2591597 MUC16 Nonsynonymous SNV S3215G 0.224 0.206 0.238 82 263 79 0.21 70 25 9 13 10 0.01 36602 chr21 45528919 45528919 G A rs2020945 LOC102724159, PWP2 Nonsynonymous SNV D25N 0.796 0.784 0.786 317 935 301 0.813 231 378 117 90 125 21 36603 chr1 155257818 155257818 C T rs35001694 HCN3 Nonsynonymous SNV P630L 0.084 0.094 0.071 30 99 36 0.077 21 7 1 1 2 23.7 36604 chr21 45538647 45538647 T C rs756553 LOC102724159, PWP2 Synonymous SNV I328I 0.806 0.786 0.796 321 946 302 0.823 234 386 118 92 129 4.76 36605 chr21 45540919 45540919 A G rs2071143 LOC102724159, PWP2 Synonymous SNV T524T 0.802 0.784 0.793 319 941 301 0.818 233 381 117 91 127 0.024 36606 chr9 140772434 140772434 G A rs187204220 CACNA1B Nonsynonymous SNV G17S 0.093 0.081 0.102 35 109 31 0.09 30 0 0 0 0 23.7 36607 chr21 45544594 45544594 T C rs2187313 LOC102724159, PWP2 Synonymous SNV L651L 0.813 0.797 0.806 328 954 306 0.841 237 390 122 95 136 6.205 36608 chr21 45553596 45553596 T C rs968714 GATD3A, GATD3B Nonsynonymous SNV V6A 0.802 0.784 0.796 320 941 301 0.821 234 380 117 92 128 0.006 36609 chr1 16095031 16095031 G A rs140170023 FBLIM1 Synonymous SNV A149A 0.035 0.031 0.044 12 41 12 0.031 13 0 0 0 0 8.53 36610 chr10 79397311 79397311 G A rs75040504 KCNMA1 Synonymous SNV H30H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 12.61 36611 chr9 140772442 140772442 G A rs191962352 CACNA1B Synonymous SNV E19E 0.107 0.089 0.099 44 126 34 0.113 29 0 0 0 0 8.851 36612 chr21 45656774 45656774 C T rs11558819 ICOSLG, LOC102723996 Nonsynonymous SNV V128I 0.329 0.268 0.327 122 386 103 0.313 96 59 13 10 15 16.35 36613 chr21 45708277 45708277 C T rs878081 AIRE Synonymous SNV S196S 0.258 0.214 0.259 99 303 82 0.254 76 33 14 10 10 Benign 7.375 36614 chr21 45712977 45712977 T C rs1800521 AIRE Synonymous SNV A399A 0.333 0.38 0.361 133 391 146 0.341 106 67 29 21 18 Benign 0.016 36615 chr21 45717550 45717550 T C rs1133779 AIRE Synonymous SNV D526D 0.461 0.422 0.5 176 541 162 0.451 147 123 33 42 36 Benign 0.163 36616 chr21 45725715 45725715 A G rs9975113 PFKL Synonymous SNV T44T 0.331 0.286 0.357 129 389 110 0.331 105 63 16 25 21 0.825 36617 chr1 161049383 161049383 G T rs77444104 NECTIN4 Nonsynonymous SNV L146M 0.028 0.021 0.014 6 33 8 0.015 4 2 1 0 0 12.64 36618 chr21 45750346 45750346 C A rs2070573 CFAP410 Synonymous SNV P333P 0.204 0.201 0.207 85 239 77 0.218 61 17 6 8 5 0.032 36619 chr21 45844751 45844751 A G rs9978351 TRPM2 Nonsynonymous SNV Q1189R 0.999 1 0.895 389 1173 384 0.997 263 586 192 131 194 0.003 36620 chr1 145562532 145562532 C G rs147055033 ANKRD35 Nonsynonymous SNV H650Q 0.022 0.031 0.017 7 26 12 0.018 5 1 1 0 0 18.95 36621 chr10 81064950 81064950 G C rs34305410 ZMIZ1 Synonymous SNV L772L 0.031 0.026 0.041 12 36 10 0.031 12 0 0 0 0 8.316 36622 chr21 45978090 45978090 C T rs233252 KRTAP10-3 Nonsynonymous SNV C170Y 0.952 0.964 0.935 364 1118 370 0.933 275 532 178 130 170 22.9 36623 chr1 161167981 161167981 C T rs61747494 ADAMTS4 Nonsynonymous SNV G146E 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 14.98 36624 chr21 45978488 45978488 G A rs12483390 KRTAP10-3 Synonymous SNV C37C 0.5 0.469 0.418 207 587 180 0.531 123 141 42 27 57 1.045 36625 chr21 45978499 45978499 T G rs377549 KRTAP10-3 Nonsynonymous SNV T34P 0.957 0.961 0.932 366 1124 369 0.938 274 539 177 130 172 0.003 36626 chr1 161275943 161275943 C T rs16832790 MPZ Synonymous SNV G200G 0.009 0.01 0.024 4 11 4 0.01 7 0 0 0 0 Benign 18.95 36627 chr1 115153722 115153722 G A rs146250607 DENND2C Synonymous SNV N390N 0.008 0 0 5 9 0 0.013 0 1 0 0 0 11.99 36628 chr21 45978503 45978503 G A rs435424 KRTAP10-3 Synonymous SNV C32C 0.957 0.961 0.925 366 1124 369 0.938 272 539 177 129 172 0.414 36629 chr21 45978587 45978587 A G rs448908 KRTAP10-3 Synonymous SNV S4S 0.295 0.281 0.286 102 346 108 0.262 84 50 14 10 12 0.017 36630 chr21 45978592 45978592 T C rs452472 KRTAP10-3 Nonsynonymous SNV T3A 0.298 0.281 0.289 103 350 108 0.264 85 51 14 10 12 Uncertain significance 0.001 36631 chr21 46032094 46032094 A G rs411254 KRTAP10-8 Nonsynonymous SNV H26R 0.928 0.906 0.929 360 1089 348 0.923 273 507 157 126 165 0.001 36632 chr21 46057958 46057958 C T rs4818951 KRTAP10-10 Synonymous SNV S208S 0.754 0.732 0.738 279 885 281 0.715 217 337 98 88 104 7.099 36633 chr1 152732106 152732106 A T rs17612167 KPRP Nonsynonymous SNV Q14H 0.21 0.201 0.201 83 247 77 0.213 59 28 10 6 14 18.29 36634 chr21 46066764 46066764 C T rs4818952 KRTAP10-11 Nonsynonymous SNV S130F 0.762 0.753 0.813 291 895 289 0.746 239 347 105 97 111 23 36635 chr1 152749091 152749091 C T rs41268480 LCE1F Nonsynonymous SNV R82W 0.189 0.19 0.184 81 222 73 0.208 54 25 10 4 12 23.7 36636 chr21 46067180 46067180 C T rs462007 KRTAP10-11 Nonsynonymous SNV R269C 0.769 0.755 0.789 312 903 290 0.8 232 349 109 92 126 23.6 36637 chr10 82331292 82331292 G A rs72805712 SH2D4B Synonymous SNV K102K 0.089 0.109 0.119 28 104 42 0.072 35 7 2 3 0 11.89 36638 chr21 46074202 46074202 A G rs9984726 KRTAP12-4 Synonymous SNV T110T 0.75 0.721 0.803 282 881 277 0.723 236 346 102 96 110 0.047 36639 chr10 3178017 3178017 C A rs1804254 PFKP Nonsynonymous SNV Q471K 0.017 0.01 0.017 7 20 4 0.018 5 0 0 0 0 13.29 36640 chr1 153004942 153005013 TGCCACCCCAAGGTGCCTGAGCCCTGCCACCCCAAAGTGCCCGAGCCCTGCCAGCCCAAGGTTCCAGAGCCA - SPRR1B H50_C73del 0.024 0.008 0.017 6 28 3 0.015 5 1 0 0 0 36641 chr21 46077946 46077946 A G rs9306111 KRTAP12-3 Nonsynonymous SNV H17R 0.763 0.745 0.81 292 896 286 0.749 238 347 102 96 112 0.004 36642 chr1 162313735 162313735 C T rs3751284 NOS1AP Synonymous SNV S183S 0.301 0.273 0.398 131 353 105 0.336 117 61 16 25 25 17.75 36643 chr1 153085029 153085029 G T rs74133286 SPRR2F Nonsynonymous SNV P61T 0.011 0.023 0.003 4 13 9 0.01 1 0 0 0 0 4.921 36644 chr21 46117792 46117792 G A rs34302939 KRTAP10-12 Nonsynonymous SNV G226S 0.165 0.167 0.17 62 194 64 0.159 50 13 5 4 5 13.71 36645 chr1 156622127 156622127 A C BCAN Nonsynonymous SNV E462A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.051 36646 chr21 46117823 46117823 G A rs61745911 KRTAP10-12 Nonsynonymous SNV C236Y 0.059 0.068 0.075 13 69 26 0.033 22 1 2 2 0 18.16 36647 chr21 46314907 46314907 T A rs235330 ITGB2 Nonsynonymous SNV Q354H 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 15.04 36648 chr21 46320313 46320313 C T rs2230528 ITGB2 Synonymous SNV G273G 0.209 0.247 0.238 102 245 95 0.262 70 29 9 11 15 Benign 8.95 36649 chr21 46353985 46353985 A G rs9974152 LINC01547 0 0 0.269 0 0 0 0 79 0 0 27 0 0.403 36650 chr1 16258756 16258756 T A rs61749275 SPEN Nonsynonymous SNV D2007E 0.01 0 0.01 2 12 0 0.005 3 0 0 0 0 2.841 36651 chr21 46354055 46354055 A G rs9974172 LINC01547 0 0 0.84 0 0 0 0 247 0 0 108 0 0.322 36652 chr21 46355710 46355710 A G rs11088971 LINC01547 0 0 0.327 0 0 0 0 96 0 0 28 0 0.008 36653 chr1 11728894 11728894 G A rs3125818 FBXO6 Nonsynonymous SNV R60Q 0.112 0.112 0.126 37 132 43 0.095 37 7 3 3 3 7.729 36654 chr21 46572572 46572572 A G rs420085 ADARB1 Nonsynonymous SNV I17V 0.959 0.969 0.966 365 1126 372 0.936 284 539 180 137 170 3.591 36655 chr21 46705621 46705621 G A rs2297285 POFUT2 Synonymous SNV P118P 0.269 0.258 0.303 102 316 99 0.262 89 42 15 15 13 14.09 36656 chr21 46875564 46875564 T C rs914230 COL18A1 Synonymous SNV H40H 0.969 0.953 0.986 375 1138 366 0.962 290 551 174 143 180 Benign 0.004 36657 chr21 46876083 46876083 A G rs2236451 COL18A1 Synonymous SNV P213P 0.352 0.359 0.388 126 413 138 0.323 114 69 32 19 14 Benign 0.164 36658 chr21 46876306 46876306 G A rs11702494 COL18A1 Nonsynonymous SNV A288T 0.253 0.281 0.269 89 297 108 0.228 79 36 20 10 5 5.528 36659 chr21 46876619 46876619 T C rs114463382 COL18A1 Nonsynonymous SNV L392P 0.048 0.055 0.058 17 56 21 0.044 17 2 0 0 0 12.88 36660 chr1 117503940 117503940 G A rs34625170 PTGFRN Nonsynonymous SNV R430Q 0.02 0.018 0.031 15 23 7 0.038 9 0 0 0 0 19.56 36661 chr21 46908355 46908355 T C rs11702425 COL18A1 Synonymous SNV L820L 0.302 0.315 0.289 106 354 121 0.272 85 57 25 13 6 Benign 0.686 36662 chr21 46924426 46924434 GGCCCCCCA - rs149296338 COL18A1 G1122Afs*86 0.942 0.956 0.946 371 1106 367 0.951 278 545 182 137 182 36663 chr1 156555740 156555740 G C TTC24 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.93 36664 chr21 46929467 46929467 G A rs1050351 COL18A1 Synonymous SNV A1326A 0.476 0.424 0.415 184 559 163 0.472 122 129 36 27 40 Benign 6.149 36665 chr1 156873727 156873727 G A rs12407843 PEAR1 Synonymous SNV P3P 0.129 0.143 0.075 40 151 55 0.103 22 9 2 2 4 4.335 36666 chr21 46951556 46951556 A G rs12659 SLC19A1 Synonymous SNV P192P 0.527 0.526 0.575 206 619 202 0.528 169 163 57 47 50 0.011 36667 chr21 46957794 46957794 T C rs1051266 SLC19A1 Nonsynonymous SNV H27R 0.522 0.518 0.548 197 613 199 0.505 161 163 56 44 47 Uncertain significance 0.025 36668 chr1 156877797 156877797 C A rs77235035 PEAR1 Synonymous SNV R286R 0.135 0.156 0.129 41 158 60 0.105 38 10 3 3 4 21.9 36669 chr1 154245965 154245965 A T rs142150013 HAX1 Synonymous SNV P21P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 0.269 36670 chr21 47329352 47329352 T C rs2277812 PCBP3 Synonymous SNV C141C 0.727 0.674 0.731 279 854 259 0.715 215 311 86 83 98 0.829 36671 chr1 156878531 156878531 T C rs11264580 PEAR1 Synonymous SNV H400H 0.135 0.156 0.122 41 158 60 0.105 36 10 3 3 5 1.357 36672 chr1 113635861 113635861 G A rs11803863 LRIG2 Synonymous SNV P113P 0.048 0.018 0.031 13 56 7 0.033 9 2 0 0 0 12.38 36673 chr21 47406485 47406485 C T rs773280332 COL6A1 Synonymous SNV D158D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 36674 chr1 156878737 156878737 T C rs6671392 PEAR1 Synonymous SNV P440P 0.135 0.154 0.129 42 158 59 0.108 38 10 3 3 5 0.015 36675 chr21 47410931 47410931 T C rs1980982 COL6A1 Synonymous SNV G365G 0.541 0.576 0.527 209 635 221 0.536 155 169 66 43 53 Benign 0.033 36676 chr1 156879580 156879580 C T rs3737224 PEAR1 Synonymous SNV P483P 0.112 0.13 0.095 40 132 50 0.103 28 6 2 2 4 13.29 36677 chr21 47423389 47423389 G A rs1053312 COL6A1 Nonsynonymous SNV R850H 0.296 0.313 0.241 116 347 120 0.297 71 40 16 7 15 Benign 22.3 36678 chr1 156882996 156882996 G C rs822441 PEAR1 Synonymous SNV P811P 0.17 0.206 0.173 67 199 79 0.172 51 21 8 5 10 6.813 36679 chr1 156883215 156883215 C A rs822442 PEAR1 Nonsynonymous SNV N848K 0.105 0.117 0.099 37 123 45 0.095 29 5 2 2 5 2.976 36680 chr21 47423507 47423507 G A rs1053315 COL6A1 Synonymous SNV A889A 0.296 0.313 0.241 116 348 120 0.297 71 41 16 7 15 Benign 4.943 36681 chr1 156884584 156884584 C T rs56260937 PEAR1 Synonymous SNV D1036D 0.193 0.193 0.207 79 227 74 0.203 61 16 8 7 11 13.49 36682 chr21 47423636 47423636 C T rs1053320 COL6A1 Synonymous SNV S932S 0.244 0.247 0.221 97 286 95 0.249 65 27 9 4 11 Benign 8.822 36683 chr1 15441029 15441029 T C rs34135602 KAZN Synonymous SNV Y742Y 0.042 0.052 0.034 15 49 20 0.038 10 1 1 1 1 0.043 36684 chr1 156618535 156618535 C T rs207460460 BCAN Synonymous SNV I315I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.29 36685 chr1 156890672 156890672 T C rs41273221 LRRC71 Nonsynonymous SNV V26A 0.15 0.133 0.19 60 176 51 0.154 56 16 7 6 11 0.414 36686 chr21 47538960 47538960 G A rs2839110 COL6A2 Nonsynonymous SNV S399N 0.83 0.786 0.823 317 975 302 0.813 242 402 120 98 125 Benign 8.055 36687 chr1 156902222 156902222 G A rs12119908 LRRC71 Nonsynonymous SNV R483H 0.194 0.198 0.16 81 228 76 0.208 47 16 10 6 11 22.8 36688 chr1 114438448 114438448 T C rs114734921 AP4B1 Nonsynonymous SNV I407V 0.005 0 0.017 3 6 0 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 0.377 36689 chr21 47545768 47545768 G A rs1042917 COL6A2 Nonsynonymous SNV R680H 0.521 0.484 0.456 180 612 186 0.462 134 156 51 32 42 Benign 25.8 36690 chr21 47545823 47545823 G A rs13052956 COL6A2 Synonymous SNV A698A 0.522 0.484 0.456 180 613 186 0.462 134 156 51 32 42 Benign 12.98 36691 chr1 156902281 156902281 T G rs822431 LRRC71 Nonsynonymous SNV S503A 0.201 0.203 0.187 82 236 78 0.21 55 17 10 6 11 8.392 36692 chr21 47545826 47545826 C T rs13046639 COL6A2 Synonymous SNV G699G 0.522 0.484 0.456 180 613 186 0.462 134 156 51 32 42 Benign 14.44 36693 chr21 47552130 47552130 A G rs9977394 COL6A2 Synonymous SNV T908T 0.114 0.104 0.136 49 134 40 0.126 40 7 1 3 5 Benign 0.002 36694 chr1 114454742 114454742 A T rs35397235 DCLRE1B Nonsynonymous SNV N384Y 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 Benign 23.3 36695 chr21 47552385 47552385 C T rs6652 COL6A2 Synonymous SNV R993R 0.193 0.177 0.228 87 226 68 0.223 67 19 5 9 13 Benign/Likely benign 13.47 36696 chr21 47581869 47581869 G A rs139199473 SPATC1L Synonymous SNV Y65Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.455 36697 chr21 47614443 47614443 A G rs2254522 LSS Synonymous SNV H570H 0.24 0.26 0.238 85 282 100 0.218 70 39 10 6 8 Benign 2.121 36698 chr1 156909695 156909695 G A rs2275199 ARHGEF11 Synonymous SNV N1207N 0.193 0.198 0.19 80 227 76 0.205 56 16 10 7 11 6.207 36699 chr1 114508757 114508757 G A rs35061908 HIPK1 Synonymous SNV A354A 0.047 0.049 0.027 9 55 19 0.023 8 2 1 0 0 12.3 36700 chr21 47614469 47614469 A C rs2254524 LSS Nonsynonymous SNV L562V 0.706 0.721 0.714 272 829 277 0.697 210 295 102 72 91 Benign 0.012 36701 chr10 5945103 5945103 T C rs777644261 FBH1 Nonsynonymous SNV L41P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.6 36702 chr1 151867556 151867556 A G rs144757240 THEM4 Nonsynonymous SNV S72P 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 21.5 36703 chr1 15702148 15702148 A G rs895625600 FHAD1 Synonymous SNV R1187R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.013 36704 chr21 47614553 47614553 G A rs35785446 LSS Nonsynonymous SNV R534W 0.086 0.107 0.122 28 101 41 0.072 36 3 2 1 1 32 36705 chr10 6067969 6067969 C T rs2228150 IL2RA Synonymous SNV P28P 0.047 0.031 0.01 12 55 12 0.031 3 0 0 0 0 Benign/Likely benign 9.335 36706 chr21 47626602 47626602 G A rs111779817 LSS Synonymous SNV N436N 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign 12.01 36707 chr21 47669648 47669648 T A rs2330353 MCM3AP-AS1 0 0 0.401 0 0 0 0 118 0 0 25 0 3.043 36708 chr10 88820789 88820789 T C rs9421572 GLUD1 Synonymous SNV L181L 0.096 0.115 0.099 42 113 44 0.108 29 1 0 0 4 Benign/Likely benign 1.451 36709 chr10 6553071 6553071 T C rs17555072 PRKCQ Synonymous SNV R68R 0.031 0.023 0.02 18 36 9 0.046 6 1 0 0 0 0.393 36710 chr21 47676711 47676711 G A rs2839173 MCM3AP Synonymous SNV S1308S 0.371 0.375 0.333 135 436 144 0.346 98 78 31 21 19 11.17 36711 chr21 47676837 47676837 C T rs17183017 MCM3AP Synonymous SNV A1266A 0.076 0.096 0.112 17 89 37 0.044 33 3 2 1 1 16.48 36712 chr1 154842199 154842199 - GCTGCTGCTGCT rs3831942 KCNN3 Q80_P81insQQQQ 0.104 0.089 0.075 26 122 34 0.067 22 16 3 10 3 36713 chr21 47685939 47685939 A G rs2839181 MCM3AP Synonymous SNV H977H 0.409 0.445 0.442 158 480 171 0.405 130 93 43 28 26 Benign 0.168 36714 chr1 16577347 16577347 C T rs201523342 FBXO42 Nonsynonymous SNV G658R 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 24.2 36715 chr1 157485429 157485429 C G rs60516051 FCRL5 Nonsynonymous SNV C987S 0.053 0.057 0.054 18 62 22 0.046 16 2 0 0 0 2.566 36716 chr21 47721985 47721985 - TGG rs112899928 C21orf58 H193_A194insH 0.262 0.253 0.248 113 308 97 0.29 73 39 17 7 14 36717 chr1 10364139 10364139 C T rs140733878 KIF1B Nonsynonymous SNV P966S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 17.77 36718 chr1 157485504 157485504 G A rs115493285 FCRL5 Nonsynonymous SNV P962L 0.053 0.057 0.054 16 62 22 0.041 16 2 0 0 0 9.54 36719 chr21 47734659 47734659 G A rs13047478 C21orf58 Nonsynonymous SNV P88S 0.283 0.271 0.276 129 332 104 0.331 81 54 20 8 22 10.95 36720 chr1 156883493 156883493 G A rs11264581 PEAR1 Nonsynonymous SNV R885H 0.138 0.12 0.133 44 162 46 0.113 39 14 4 0 5 15.26 36721 chr21 47754541 47754541 A G rs61735824 PCNT Synonymous SNV P48P 0.056 0.07 0.105 14 66 27 0.036 31 1 1 0 1 Benign 0.012 36722 chr21 47754563 47754563 A G rs61735822 PCNT Nonsynonymous SNV I56V 0.056 0.07 0.105 15 66 27 0.038 31 1 1 0 1 Benign 0.001 36723 chr21 47777063 47777063 G A rs2839223 PCNT Nonsynonymous SNV G586E 0.851 0.849 0.901 325 999 326 0.833 265 429 139 118 135 Benign 3.387 36724 chr1 152193605 152193605 C T rs12741518 HRNR Nonsynonymous SNV G167D 0.021 0.031 0.027 6 25 12 0.015 8 0 0 1 0 4.319 36725 chr21 47783796 47783796 T C rs8131546 PCNT Synonymous SNV A734A 0.851 0.849 0.891 325 999 326 0.833 262 426 138 117 135 Benign 0.105 36726 chr21 47786817 47786817 C G rs2839228 PCNT Synonymous SNV L858L 0.851 0.846 0.901 325 999 325 0.833 265 426 137 118 135 Benign 8.285 36727 chr21 47787002 47787002 T C rs6518289 PCNT Nonsynonymous SNV V920A 0.851 0.849 0.901 325 999 326 0.833 265 426 138 118 135 Benign 0.002 36728 chr1 158390252 158390252 T G rs12239443 OR10K2 Synonymous SNV L135L 0.368 0.37 0.391 154 432 142 0.395 115 87 25 27 35 2.057 36729 chr10 90537942 90537942 C T rs11202851 LIPN Synonymous SNV L380L 0.072 0.07 0.071 23 84 27 0.059 21 3 1 0 0 15.12 36730 chr1 158390501 158390501 G A rs34616883 OR10K2 Synonymous SNV D52D 0.368 0.37 0.388 154 432 142 0.395 114 87 25 27 35 0.051 36731 chr1 152324002 152324002 T C rs141384852 FLG2 Nonsynonymous SNV H2087R 0.012 0.008 0.01 4 14 3 0.01 3 0 0 0 0 8.459 36732 chr21 47831509 47831509 A G rs35940413 PCNT Nonsynonymous SNV N1723S 0.125 0.164 0.163 31 147 63 0.079 48 8 4 1 1 Benign 0.002 36733 chr1 158435928 158435928 G A rs41273489 OR10K1 Nonsynonymous SNV G193S 0.103 0.117 0.109 48 121 45 0.123 32 6 3 2 1 0.77 36734 chr21 47836403 47836403 T C rs34151633 PCNT Nonsynonymous SNV S2073P 0.062 0.078 0.102 14 73 30 0.036 30 1 1 0 1 Benign 13.93 36735 chr1 152328095 152328095 C T rs16842865 FLG2 Nonsynonymous SNV E723K 0.018 0.026 0.027 7 21 10 0.018 8 0 0 1 1 17.82 36736 chr21 47836750 47836750 T C rs61738290 PCNT Synonymous SNV A2188A 0.06 0.078 0.105 15 71 30 0.038 31 1 1 0 1 Benign 0.114 36737 chr1 158450192 158450192 C T rs61741711 OR10R2 Synonymous SNV A175A 0.106 0.117 0.119 51 124 45 0.131 35 7 3 2 1 10.85 36738 chr21 47850484 47850484 G C rs2070426 PCNT Nonsynonymous SNV Q2541H 0.641 0.62 0.622 243 752 238 0.623 183 242 78 54 74 Benign 18.05 36739 chr1 158450314 158450314 A G rs6679056 OR10R2 Nonsynonymous SNV E216G 0.509 0.523 0.548 218 597 201 0.559 161 151 51 47 66 22.6 36740 chr21 47851753 47851753 A G rs2073376 PCNT Nonsynonymous SNV Q2674R 0.717 0.724 0.69 264 842 278 0.677 203 306 105 64 89 Benign 0.005 36741 chr1 152329852 152329852 C T rs6587667 FLG2 Nonsynonymous SNV G137E 0.018 0.026 0.027 7 21 10 0.018 8 0 0 1 1 24.1 36742 chr21 47970581 47970581 G A rs2255397 DIP2A Synonymous SNV T917T 0.195 0.172 0.204 81 229 66 0.208 60 17 7 5 10 12.58 36743 chr21 48022230 48022230 C G rs1051169 S100B Synonymous SNV L33L 0.599 0.607 0.575 245 703 233 0.628 169 206 73 49 80 0.371 36744 chr1 169345868 169345868 A G rs1028180 BLZF1 Nonsynonymous SNV Q40R 0.025 0.029 0.02 10 29 11 0.026 6 0 0 0 0 9.6 36745 chr21 48063476 48063476 C G rs10854485 PRMT2 Synonymous SNV A23A 0.83 0.813 0.84 335 974 312 0.859 247 410 127 103 141 10.3 36746 chr1 158549421 158549421 G A rs77690058 OR10X1 Nonsynonymous SNV T90M 0.106 0.117 0.119 51 124 45 0.131 35 7 3 2 1 25 36747 chr22 17446991 17446991 C T rs4819925 GAB4 Synonymous SNV K276K 0.801 0.779 0.793 302 940 299 0.774 233 379 118 94 113 8.664 36748 chr1 109260477 109260477 G C rs141252453 FNDC7 Nonsynonymous SNV G54A 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 27.8 36749 chr1 169366516 169366516 G A rs2272801 CCDC181 Synonymous SNV F443F 0.025 0.029 0.017 10 29 11 0.026 5 0 0 0 0 11.62 36750 chr22 17469026 17469026 G A rs5992604 GAB4 Synonymous SNV H170H 0.422 0.453 0.425 172 496 174 0.441 125 102 44 29 33 0.858 36751 chr1 11844278 11844278 G A rs538180931 C1orf167 Nonsynonymous SNV R1018Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.347 36752 chr10 91099637 91099637 C T rs61853145 IFIT3 Synonymous SNV L409L 0.014 0.021 0.007 3 17 8 0.008 2 0 1 0 0 Benign 11.75 36753 chr1 169510139 169510139 G A rs13306334 F5 Nonsynonymous SNV L1397F 0.01 0.005 0.014 4 12 2 0.01 4 0 0 0 0 Benign/Likely benign 1.681 36754 chr22 17469049 17469049 C A rs28502153 GAB4 Stop gain G163X 0.386 0.422 0.374 153 453 162 0.392 110 91 39 21 27 33 36755 chr22 17589209 17589209 C T rs879577 IL17RA Nonsynonymous SNV A333V 0.258 0.255 0.245 113 303 98 0.29 72 36 12 12 17 Benign 9.295 36756 chr1 158533111 158533111 A T rs201578777 OR6P1 Nonsynonymous SNV V95E 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 0.004 36757 chr22 17589567 17589567 C T rs879575 IL17RA Synonymous SNV I452I 0.242 0.258 0.201 104 284 99 0.267 59 35 13 9 16 Benign 12.32 36758 chr1 158592935 158592935 G A rs3753068 SPTA1 Synonymous SNV P1986P 0.317 0.315 0.333 139 372 121 0.356 98 59 21 20 30 Benign 9.035 36759 chr22 17590269 17590269 C T rs4819555 IL17RA Synonymous SNV P686P 0.256 0.253 0.231 107 300 97 0.274 68 36 13 10 16 Benign 12.81 36760 chr1 158597507 158597507 G C rs3737515 SPTA1 Nonsynonymous SNV L1858V 0.274 0.273 0.289 123 322 105 0.315 85 45 18 16 27 Benign/Likely benign 24.1 36761 chr22 17600293 17600293 G A rs13056456 TMEM121B Synonymous SNV A575A 0.033 0.026 0.044 6 39 10 0.015 13 1 0 1 0 3.684 36762 chr1 169519112 169519112 C T rs6020 F5 Nonsynonymous SNV R513K 0.02 0.01 0.02 6 23 4 0.015 6 1 0 0 0 Benign/Likely benign 26.3 36763 chr22 17600497 17600497 G A rs3827295 TMEM121B Synonymous SNV L507L 0.027 0.013 0.044 6 32 5 0.015 13 1 0 1 0 4.943 36764 chr1 109270563 109270563 T C rs4484951 FNDC7 Synonymous SNV N415N 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 4.311 36765 chr1 158606449 158606449 G T rs3738791 SPTA1 Synonymous SNV A1764A 0.315 0.315 0.333 138 370 121 0.354 98 59 21 20 30 Benign 2.169 36766 chr22 17600977 17600977 G A rs5994165 TMEM121B Synonymous SNV F347F 0.397 0.422 0.395 133 466 162 0.341 116 88 32 22 23 10.39 36767 chr22 17601748 17601748 C T rs9606620 TMEM121B Synonymous SNV V90V 0.041 0.06 0.119 21 48 23 0.054 35 20 10 11 6 10.18 36768 chr22 17602839 17602839 G A rs5992629 LINC01664 0 0 0.84 0 0 0 0 247 0 0 105 0 10.73 36769 chr22 17630486 17630486 C A rs1034859 HDHD5 Synonymous SNV G62G 0.519 0.536 0.524 220 609 206 0.564 154 173 62 37 58 18.13 36770 chr22 17669306 17669306 T C rs2231495 ADA2 Nonsynonymous SNV H94R 0.382 0.411 0.344 144 449 158 0.369 101 87 35 19 26 0.033 36771 chr22 17690409 17690409 G A rs362129 ADA2 Synonymous SNV N53N 0.51 0.482 0.51 186 599 185 0.477 150 158 47 39 40 Benign 1.559 36772 chr1 109377070 109377070 C A rs12060255 AKNAD1 Nonsynonymous SNV G582V 0.087 0.063 0.116 49 102 24 0.126 34 12 0 3 3 9.393 36773 chr22 17990852 17990852 G A rs5747211 CECR2 Nonsynonymous SNV R130H 0.16 0.177 0.112 71 188 68 0.182 33 10 10 3 7 24.4 36774 chr10 11797517 11797517 C T rs145453628 ECHDC3 Synonymous SNV S167S 0.026 0.026 0.024 18 31 10 0.046 7 0 0 0 0 19.61 36775 chr22 18209613 18209613 A G rs4488761 BCL2L13 Synonymous SNV S233S 0.559 0.516 0.588 213 656 198 0.546 173 183 50 46 56 0.678 36776 chr22 18300240 18300240 T C rs5992854 MICAL3 Synonymous SNV L1729L 0.365 0.354 0.378 153 428 136 0.392 111 73 30 20 27 0.002 36777 chr1 152800124 152800124 G T rs137886860 LCE1A Nonsynonymous SNV G59V 0.009 0.01 0.003 6 11 4 0.015 1 0 0 0 0 18.1 36778 chr22 18300594 18300594 G A rs11704160 MICAL3 Synonymous SNV D1611D 0.307 0.297 0.282 128 360 114 0.328 83 51 20 15 17 6.043 36779 chr22 18300879 18300879 G A rs11704809 MICAL3 Synonymous SNV S1516S 0.307 0.297 0.289 128 360 114 0.328 85 51 20 15 17 7.886 36780 chr1 109538263 109538265 GAG - rs537396112 WDR47 P551del 0.014 0.01 0.003 4 17 4 0.01 1 0 0 0 0 36781 chr22 18301693 18301693 T C rs8135914 MICAL3 Nonsynonymous SNV Q1245R 0.325 0.318 0.33 142 381 122 0.364 97 58 22 17 22 0.001 36782 chr22 18354766 18354766 C T rs9617630 MICAL3 Synonymous SNV P755P 0.132 0.104 0.105 50 155 40 0.128 31 6 3 4 2 15.75 36783 chr22 18912678 18912678 A G rs386819653 LOC102724788, PRODH Nonsynonymous SNV W77R 0.669 0.677 0.697 254 785 260 0.651 205 262 86 73 84 0.306 36784 chr22 19006206 19006206 A G rs2003007 DGCR9 0 0 0.177 0 0 0 0 52 0 0 9 0 0.145 36785 chr22 19006215 19006215 T G rs2904555 DGCR9 0 0 0.173 0 0 0 0 51 0 0 9 0 4.737 36786 chr10 95083039 95083039 C T rs11594445 MYOF Nonsynonymous SNV R1770Q 0.06 0.068 0.068 35 70 26 0.09 20 1 1 0 2 35 36787 chr22 19006245 19006245 C G rs2003009 DGCR9 0 0 0.18 0 0 0 0 53 0 0 10 0 2.096 36788 chr22 19006246 19006246 A G rs2003010 DGCR9 0 0 0.211 0 0 0 0 62 0 0 13 0 0.097 36789 chr22 19026613 19026613 A G rs2072123 DGCR2 Nonsynonymous SNV V432A 0.336 0.333 0.378 132 394 128 0.338 111 102 38 22 26 0.001 36790 chr22 19034079 19034079 A T rs715539 DGCR11 0.171 0.169 0.146 69 201 65 0.177 43 21 8 5 5 0.18 36791 chr22 19034240 19034240 A G rs2012929 DGCR11 0.481 0.456 0.429 180 565 175 0.462 126 145 46 28 36 6.484 36792 chr22 19119545 19119545 C T rs45604134 TSSK2 Synonymous SNV C211C 0.159 0.18 0.167 65 187 69 0.167 49 18 8 5 4 10.61 36793 chr1 119469188 119469188 G T rs10494217 TBX15 Nonsynonymous SNV H156N 0.132 0.135 0.099 66 155 52 0.169 29 8 5 2 4 19.26 36794 chr22 19119686 19119686 C T rs1052756 TSSK2 Synonymous SNV S258S 0.159 0.177 0.167 65 187 68 0.167 49 18 8 5 4 8.213 36795 chr1 156255448 156255448 A G rs116664767 TMEM79 Nonsynonymous SNV D144G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.95 36796 chr22 19119751 19119751 C T rs1052763 TSSK2 Nonsynonymous SNV T280M 0.165 0.18 0.173 66 194 69 0.169 51 20 8 5 4 19.21 36797 chr22 19119938 19119938 G A rs1052773 TSSK2 Synonymous SNV R342R 0.164 0.18 0.173 66 193 69 0.169 51 20 8 5 4 0.827 36798 chr1 153279696 153279696 C T rs55991125 PGLYRP3 Nonsynonymous SNV A35T 0.075 0.083 0.071 21 88 32 0.054 21 3 0 1 0 3.976 36799 chr22 19122665 19122665 C T rs2240111 ESS2 Synonymous SNV E353E 0.166 0.182 0.177 69 195 70 0.177 52 21 8 6 4 13.27 36800 chr22 19132061 19132061 C T rs2298274 ESS2 Synonymous SNV A31A 0.118 0.091 0.119 44 138 35 0.113 35 4 2 5 4 17.96 36801 chr1 1564064 1564064 G A rs201947158 MIB2 Nonsynonymous SNV A772T 0.009 0.01 0.027 5 10 4 0.013 8 0 0 0 0 Likely benign 9.986 36802 chr1 158988270 158988270 T C rs11539423 IFI16 Synonymous SNV Y211Y 0.071 0.07 0.071 40 83 27 0.103 21 2 1 2 3 0.004 36803 chr22 19189003 19189003 - C rs11386977 CLTCL1 Frameshift insertion V1201Gfs*19 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 36804 chr1 153313044 153313044 C T rs12063091 PGLYRP4 Nonsynonymous SNV V213I 0.072 0.086 0.078 22 84 33 0.056 23 3 0 1 0 0.007 36805 chr22 19196502 19196502 G A rs1060376 CLTCL1 Synonymous SNV A1124A 0.046 0.036 0.058 17 54 14 0.044 17 2 0 2 1 11.3 36806 chr22 19197896 19197896 T C rs698423 CLTCL1 Synonymous SNV A1063A 0.629 0.672 0.69 247 738 258 0.633 203 230 88 68 81 1.299 36807 chr10 14013769 14013769 G T rs115396302 FRMD4A Nonsynonymous SNV P11T 0.013 0.016 0.02 8 15 6 0.021 6 0 0 0 0 6.223 36808 chr22 19751829 19751829 C T rs2301558 TBX1 Synonymous SNV L222L 0.282 0.286 0.296 104 331 110 0.267 87 40 18 13 16 Benign 13.81 36809 chr22 19766782 19766782 C T rs4819522 TBX1 Nonsynonymous SNV T350M 0.263 0.286 0.255 112 309 110 0.287 75 33 19 8 15 Benign 23.3 36810 chr1 159021506 159021506 C T rs62621173 IFI16 Nonsynonymous SNV S512F 0.051 0.047 0.058 32 60 18 0.082 17 1 0 0 3 17.62 36811 chr22 19808769 19808769 C T rs5748449 GNB1L Nonsynonymous SNV R37H 0.249 0.263 0.214 114 292 101 0.292 63 41 10 10 17 4.557 36812 chr10 15138626 15138626 T C rs76608984 RPP38-DT 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.007 36813 chr22 19882984 19882984 T G rs5992495 TXNRD2 Nonsynonymous SNV S299R 0.163 0.216 0.204 66 191 83 0.169 60 13 10 5 6 Benign 0.002 36814 chr1 153320401 153320401 G A rs12096209 PGLYRP4 Nonsynonymous SNV P3L 0.078 0.091 0.075 22 91 35 0.056 22 3 0 1 0 10.73 36815 chr22 19906511 19906511 G A rs11541479 TXNRD2 Synonymous SNV L82L 0.148 0.164 0.17 68 174 63 0.174 50 11 5 1 8 Benign 14.12 36816 chr22 19907099 19907099 C A rs5748469 TXNRD2 Nonsynonymous SNV A66S 0.338 0.346 0.344 135 397 133 0.346 101 62 20 21 22 Benign 28.6 36817 chr1 153662340 153662340 G A rs35240348 NPR1 Nonsynonymous SNV R939Q 0.118 0.107 0.095 48 138 41 0.123 28 9 2 3 2 19.15 36818 chr22 19907118 19907118 G A rs5748470 TXNRD2 Synonymous SNV A59A 0.484 0.51 0.51 203 568 196 0.521 150 136 56 39 50 Benign 5.687 36819 chr1 153750310 153750310 G A rs142529437 SLC27A3 Synonymous SNV T370T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.73 36820 chr22 19951207 19951207 C G rs4818 COMT Synonymous SNV L86L 0.431 0.438 0.483 166 506 168 0.426 142 110 35 31 35 Benign 4.975 36821 chr22 19959473 19959473 C T rs165815 ARVCF Nonsynonymous SNV R906Q 0.848 0.849 0.81 332 996 326 0.851 238 428 135 96 138 11.62 36822 chr1 110086451 110086451 G A rs17575798 GPR61 Synonymous SNV S269S 0.149 0.154 0.201 59 175 59 0.151 59 9 4 8 1 10.42 36823 chr1 171755071 171755071 A G rs17650204 EEF1AKNMT Synonymous SNV K166K 0.135 0.12 0.061 56 158 46 0.144 18 11 2 0 4 9.848 36824 chr1 120459251 120459251 G T rs143236410 NOTCH2 Nonsynonymous SNV H2032N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 23.7 36825 chr22 19967480 19967480 C G rs74544696 ARVCF Synonymous SNV R394R 0.033 0.031 0.034 11 39 12 0.028 10 0 0 0 0 11.44 36826 chr1 171755182 171755182 G A rs2232819 EEF1AKNMT Nonsynonymous SNV M203I 0.227 0.203 0.153 93 267 78 0.238 45 30 6 2 11 22.8 36827 chr22 19968971 19968971 G A rs2073748 ARVCF Nonsynonymous SNV P220L 0.323 0.344 0.33 130 379 132 0.333 97 76 24 19 19 7.87 36828 chr1 171763549 171763549 C T rs2232825 EEF1AKNMT Synonymous SNV Y413Y 0.236 0.206 0.167 97 277 79 0.249 49 34 6 2 14 10.32 36829 chr22 19969043 19969043 C T rs80068543 ARVCF Nonsynonymous SNV R196Q 0.033 0.031 0.031 11 39 12 0.028 9 0 0 0 0 15.29 36830 chr1 11844241 11844241 G T C1orf167 Nonsynonymous SNV A1006S 0.005 0 0 0 6 0 0 0 0 0 0 0 25.3 36831 chr1 171956803 171956803 C T rs3736790 DNM3 Synonymous SNV A81A 0.107 0.102 0.092 46 126 39 0.118 27 5 1 2 2 20.9 36832 chr10 97096357 97096357 C T rs114494406 SORBS1 Nonsynonymous SNV G1187E 0.049 0.055 0.041 22 58 21 0.056 12 2 0 0 1 17.94 36833 chr22 19969075 19969075 A G rs2073747 ARVCF Synonymous SNV S185S 0.79 0.771 0.745 322 927 296 0.826 219 367 116 88 133 0.051 36834 chr1 159409884 159409884 G A rs12118628 OR10J1 Nonsynonymous SNV M101I 0.086 0.089 0.058 24 101 34 0.062 17 5 0 1 2 18.94 36835 chr22 19969106 19969106 A G rs2240717 ARVCF Nonsynonymous SNV V175A 0.335 0.354 0.333 135 393 136 0.346 98 76 26 19 19 0.002 36836 chr1 110465874 110465874 C T rs149810852 CSF1 Nonsynonymous SNV L211F 0.003 0.008 0 0 4 3 0 0 0 0 0 0 18.75 36837 chr22 20779946 20779946 C G rs759612 SCARF2 Synonymous SNV T777T 0.651 0.599 0.806 267 764 230 0.685 237 382 115 118 133 2.461 36838 chr22 20779947 20779947 G C rs759611 SCARF2 Nonsynonymous SNV T777R 0.647 0.589 0.799 267 760 226 0.685 235 380 113 117 133 10.8 36839 chr22 20779973 20779973 - G rs5844418 SCARF2, SCARF2 Frameshift insertion R769Efs*103 0.564 0.495 0.718 227 662 190 0.582 211 331 95 105 113 36840 chr22 20780024 20780024 - C rs5844420 SCARF2, SCARF2 Frameshift insertion G753Rfs*119 0.712 0.625 0.731 268 836 240 0.687 215 418 120 107 134 36841 chr10 97444321 97444321 C T rs141088838 TCTN3 Nonsynonymous SNV G344R 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Benign/Likely benign 11.38 36842 chr22 20780029 20780029 - C rs5844422 SCARF2 Frameshift insertion P750Afs*122 0.768 0.677 0.745 284 902 260 0.728 219 451 130 109 142 36843 chr22 20780031 20780031 G C rs2329378 SCARF2 0.801 0.724 0.772 290 940 278 0.744 227 470 139 113 145 0.86 36844 chr22 20780091 20780091 C G rs759610 SCARF2 Synonymous SNV P729P 0.994 0.979 0.867 383 1167 376 0.982 255 583 188 127 191 4.372 36845 chr22 20780097 20780097 G C rs759609 SCARF2 Synonymous SNV R727R 0.997 0.984 0.867 383 1171 378 0.982 255 585 189 127 191 0.03 36846 chr1 159752066 159752066 G A rs1129923 DUSP23 Nonsynonymous SNV G131S 0.095 0.115 0.105 29 112 44 0.074 31 3 2 3 0 34 36847 chr10 97453433 97453433 G A rs41291570 TCTN3 Nonsynonymous SNV A75V 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Benign/Likely benign 0.368 36848 chr22 20785639 20785639 G A rs361566 SCARF2 Nonsynonymous SNV P174S 0.155 0.146 0.119 62 182 56 0.159 35 14 4 2 5 25.5 36849 chr1 159785370 159785370 T C rs4301626 FCRL6 X414R 0.082 0.081 0.061 23 96 31 0.059 18 6 1 0 1 1.237 36850 chr22 21141300 21141300 T C rs4675 SERPIND1 Synonymous SNV H482H 0.52 0.479 0.473 212 611 184 0.544 139 149 44 36 55 0.217 36851 chr22 21167787 21167787 G A rs165854 PI4KA Synonymous SNV C288C 0.472 0.453 0.422 186 554 174 0.477 124 125 41 29 43 5.974 36852 chr10 18242333 18242333 C T rs142948678 SLC39A12 Nonsynonymous SNV P43L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.058 36853 chr22 21213416 21213416 A G rs1061064 SNAP29 Synonymous SNV K6K 0.466 0.521 0.51 170 547 200 0.436 150 117 52 41 35 Benign 2.445 36854 chr1 156756509 156756509 C G PRCC Nonsynonymous SNV S209W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.8 36855 chr22 21311531 21311531 C T rs81027 LINC01637 0 0 0.663 0 0 0 0 195 0 0 73 0 7.145 36856 chr22 21311721 21311721 T G rs178251 LINC01637 0 0 0.711 0 0 0 0 209 0 0 75 0 4.585 36857 chr22 21331043 21331043 A T rs178269 AIFM3 Synonymous SNV R378R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.133 36858 chr1 1246297 1246297 G A rs61740325 PUSL1 Synonymous SNV R259R 0.003 0 0 0 3 0 0 0 0 0 0 0 4.693 36859 chr22 21351018 21351018 C T rs143758478 LZTR1 Synonymous SNV F751F 0.03 0.031 0.027 10 35 12 0.026 8 0 0 1 0 Benign 14.5 36860 chr1 160000380 160000380 T C rs61747491 PIGM Nonsynonymous SNV N384D 0.029 0.016 0.014 6 34 6 0.015 4 0 0 0 0 25.8 36861 chr1 160098543 160098543 G A rs1063125 ATP1A2 Synonymous SNV S373S 0.238 0.276 0.252 98 279 106 0.251 74 33 15 10 12 Benign 12.54 36862 chr22 21354970 21354970 C G rs426938 THAP7 Nonsynonymous SNV A115P 0.842 0.831 0.779 333 989 319 0.854 229 408 135 95 140 0.085 36863 chr1 17320259 17320259 G A rs56351817 ATP13A2 Synonymous SNV P533P 0.012 0.003 0.014 4 14 1 0.01 4 0 0 0 0 Benign/Likely benign 9.612 36864 chr10 18964097 18964097 G A rs12359433 ARL5B Synonymous SNV G164G 0.048 0.036 0.054 20 56 14 0.051 16 1 0 0 1 10.39 36865 chr1 173772147 173772147 C T rs41265232 CENPL Nonsynonymous SNV R306H 0.004 0.01 0.01 4 5 4 0.01 3 0 0 0 0 27.6 36866 chr1 160100264 160100264 C T rs17846714 ATP1A2 Synonymous SNV F568F 0.062 0.078 0.044 18 73 30 0.046 13 4 1 0 0 Benign 17.44 36867 chr22 21356538 21356538 A T rs368989 THAP7-AS1 0 0 0.813 0 0 0 0 239 0 0 100 0 4.27 36868 chr22 21363392 21363392 G A rs28522842 THAP7-AS1, TUBA3FP 0 0 0.388 0 0 0 0 114 0 0 18 0 0.018 36869 chr22 21363452 21363452 A G rs378449 THAP7-AS1, TUBA3FP 0 0 0.793 0 0 0 0 233 0 0 97 0 2.576 36870 chr22 21363744 21363744 T C rs2075276 THAP7-AS1, TUBA3FP 0 0 0.395 0 0 0 0 116 0 0 19 0 23 36871 chr22 21377301 21377301 C A rs1548411 P2RX6 Synonymous SNV P27P 0.556 0.57 0.52 223 653 219 0.572 153 179 61 36 62 19.39 36872 chr1 157095470 157095470 A G rs2231856 ETV3 Synonymous SNV F234F 0.119 0.122 0.143 50 140 47 0.128 42 7 3 3 0 1.907 36873 chr22 21385985 21385985 C T rs402931 SLC7A4 Synonymous SNV T39T 0.272 0.268 0.293 103 319 103 0.264 86 42 9 9 9 8.632 36874 chr22 21800042 21800042 T C rs467181 HIC2 Synonymous SNV A286A 0.993 0.992 0.983 387 1166 381 0.992 289 579 189 142 192 0.002 36875 chr1 12018603 12018603 G A rs143114026 PLOD1 Nonsynonymous SNV V292M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Uncertain significance 14.09 36876 chr22 21800444 21800444 T C rs128477 HIC2 Synonymous SNV H420H 0.993 0.992 0.983 387 1166 381 0.992 289 579 189 142 192 0.001 36877 chr22 21988599 21988599 G A rs371513 CCDC116 Nonsynonymous SNV G121R 0.255 0.271 0.265 107 299 104 0.274 78 39 13 7 14 0.001 36878 chr10 98742750 98742750 A C rs3829856 LCOR Nonsynonymous SNV I845L 0.082 0.065 0.095 20 96 25 0.051 28 5 0 0 0 1.864 36879 chr1 157739773 157739773 G A rs148305794 FCRL2 Nonsynonymous SNV P160S 0.007 0.008 0.031 4 8 3 0.01 9 0 0 0 0 2.099 36880 chr1 160134056 160134056 G A rs17368402 ATP1A4 Nonsynonymous SNV E297K 0.07 0.07 0.092 28 82 27 0.072 27 2 0 2 0 7.852 36881 chr22 22049783 22049783 C T rs12484060 PPIL2 Synonymous SNV S521S 0.307 0.258 0.269 113 361 99 0.29 79 58 7 13 16 9.353 36882 chr10 98806512 98806512 G C rs17112342 SLIT1 Synonymous SNV A584A 0.066 0.083 0.071 19 77 32 0.049 21 6 0 1 1 8.415 36883 chr22 22842206 22842206 T C rs11109 ZNF280B Synonymous SNV S506S 0.896 0.875 0.874 359 1052 336 0.921 257 471 146 111 165 0.001 36884 chr1 157771966 157771966 T C rs145252437 FCRL1 Nonsynonymous SNV I209V 0.015 0.026 0.007 5 18 10 0.013 2 0 0 0 0 0.001 36885 chr22 22842957 22842957 T G rs2236729 ZNF280B Nonsynonymous SNV E256A 0.896 0.875 0.878 359 1052 336 0.921 258 471 146 112 165 0.008 36886 chr1 155006979 155006979 G A rs372006655 DCST1 Nonsynonymous SNV E44K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.6 36887 chr22 22843118 22843118 C T rs2236730 ZNF280B Synonymous SNV S202S 0.851 0.818 0.816 336 999 314 0.862 240 425 130 96 145 5.962 36888 chr10 19678424 19678424 T C rs201527497 MALRD1 Synonymous SNV G1577G 0.009 0.01 0 7 11 4 0.018 0 0 0 0 0 0.03 36889 chr1 160461060 160461060 C T rs16832061 SLAMF6 Synonymous SNV E56E 0.037 0.031 0.031 27 43 12 0.069 9 0 0 0 2 10.56 36890 chr22 22868493 22868493 G T rs361666 ZNF280A Nonsynonymous SNV R488S 0.692 0.672 0.616 278 812 258 0.713 181 281 90 53 94 16.43 36891 chr1 1334053 1334057 TAGAG - rs368050244 CCNL2 0.031 0.031 0.044 14 36 12 0.036 13 0 0 0 1 36892 chr22 22868497 22868497 G C rs361762 ZNF280A Nonsynonymous SNV F486L 0.692 0.672 0.616 278 812 258 0.713 181 281 90 53 94 0.002 36893 chr22 22868773 22868773 G A rs361737 ZNF280A Synonymous SNV Y394Y 0.691 0.672 0.616 278 811 258 0.713 181 281 90 53 94 4.485 36894 chr22 22868776 22868776 G A rs362173 ZNF280A Synonymous SNV P393P 0.691 0.672 0.616 278 811 258 0.713 181 281 90 53 94 6.439 36895 chr1 12172049 12172049 G A rs2230623 TNFRSF8 Synonymous SNV T146T 0.01 0.01 0.003 1 12 4 0.003 1 0 0 0 0 Benign 13.2 36896 chr22 22869085 22869085 C T rs61746878 ZNF280A Synonymous SNV P290P 0.038 0.049 0.061 21 45 19 0.054 18 1 1 0 1 7.552 36897 chr22 22869123 22869123 T C rs362003 ZNF280A Nonsynonymous SNV N278D 0.691 0.672 0.616 278 811 258 0.713 181 281 90 53 94 0.008 36898 chr1 175097864 175097864 G A rs12022593 TNN Synonymous SNV T1104T 0.227 0.206 0.201 72 267 79 0.185 59 32 11 6 9 11.18 36899 chr1 16065878 16065878 C T rs143157503 SLC25A34 Nonsynonymous SNV R298W 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 23.7 36900 chr22 22869209 22869209 C G rs362124 ZNF280A Nonsynonymous SNV G249A 0.691 0.672 0.616 278 811 258 0.713 181 280 90 53 94 0.003 36901 chr10 21805485 21805485 C T SKIDA1 Nonsynonymous SNV E423K 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 23.6 36902 chr1 160604473 160604473 G A rs164288 SLAMF1 Synonymous SNV T210T 0.117 0.128 0.071 49 137 49 0.126 21 4 5 1 3 9.175 36903 chr22 22869218 22869218 T C rs362132 ZNF280A Nonsynonymous SNV N246S 0.691 0.672 0.616 278 811 258 0.713 181 280 90 53 94 0.014 36904 chr22 22869538 22869538 A G rs361611 ZNF280A Synonymous SNV D139D 0.692 0.672 0.616 278 812 258 0.713 181 281 90 53 94 0.021 36905 chr1 155057646 155057657 GGGGTGGGCCCC - rs199552063 EFNA3 V71_G74del 0.024 0.016 0.037 13 28 6 0.033 11 0 0 0 0 36906 chr1 17531763 17531763 C T rs2293911 PADI1 Synonymous SNV A17A 0.084 0.073 0.095 35 99 28 0.09 28 4 2 3 1 12.91 36907 chr22 22869545 22869545 T G rs361580 ZNF280A Nonsynonymous SNV Y137S 0.692 0.672 0.616 278 812 258 0.713 181 281 90 53 94 0.002 36908 chr1 160806019 160806019 C G rs35224927 CD244 Nonsynonymous SNV G195A 0.032 0.044 0.034 8 37 17 0.021 10 0 1 0 1 0.012 36909 chr22 22869548 22869548 T C rs362011 ZNF280A Nonsynonymous SNV N136S 0.692 0.672 0.616 279 812 258 0.715 181 281 90 53 95 0.001 36910 chr22 22869649 22869649 G C rs361721 ZNF280A Synonymous SNV P102P 0.746 0.745 0.694 302 876 286 0.774 204 328 109 67 113 0.632 36911 chr22 22869742 22869742 C A rs361959 ZNF280A Nonsynonymous SNV K71N 0.692 0.672 0.616 278 812 258 0.713 181 281 90 53 94 0.668 36912 chr22 22890492 22890492 G A rs13604 PRAME Synonymous SNV N493N 0.123 0.135 0.122 51 144 52 0.131 36 9 2 3 3 0.389 36913 chr22 22890552 22890552 G A rs61730840 PRAME Synonymous SNV H473H 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 0.05 36914 chr22 22890752 22890752 A G rs17497512 PRAME Synonymous SNV L407L 0.123 0.135 0.122 51 144 52 0.131 36 9 2 3 3 0.097 36915 chr22 22890792 22890792 T C rs17497547 PRAME Synonymous SNV T393T 0.123 0.135 0.122 51 144 52 0.131 36 9 2 3 3 0.013 36916 chr22 22899234 22899234 A G rs1129172 PRAME Nonsynonymous SNV W7R 0.619 0.586 0.592 245 727 225 0.628 174 224 59 47 80 0.052 36917 chr22 23438116 23438116 C T rs41296233 GNAZ Synonymous SNV I78I 0.02 0.016 0.031 11 23 6 0.028 9 0 0 0 1 13.87 36918 chr1 17575645 17575645 A C rs3763589 PADI3 Synonymous SNV R5R 0.089 0.091 0.075 33 105 35 0.085 22 7 3 2 2 0.88 36919 chr22 23482460 23482460 A G rs4822360 RSPH14 Synonymous SNV L50L 0.584 0.555 0.568 236 686 213 0.605 167 202 60 50 66 7.399 36920 chr1 17586134 17586134 A G rs3750300 PADI3 Nonsynonymous SNV I52V 0.112 0.112 0.092 40 131 43 0.103 27 10 4 2 3 0.001 36921 chr1 161160872 161160872 T C rs34884997 ADAMTS4 Synonymous SNV R803R 0.199 0.18 0.061 76 234 69 0.195 18 23 7 5 9 Benign 9.709 36922 chr22 23503170 23503170 A G rs5759612 RAB36 Nonsynonymous SNV Q301R 0.481 0.432 0.483 193 565 166 0.495 142 141 31 32 42 6.959 36923 chr1 144923729 144923729 T - rs3215779 PDE4DIP E406Dfs*23 0.165 0.185 0.133 59 194 71 0.151 39 0 0 0 0 36924 chr1 161018896 161018896 C T rs36089872 ARHGAP30 Nonsynonymous SNV G462R 0.02 0.016 0.007 10 24 6 0.026 2 0 0 0 0 0.408 36925 chr1 17593316 17593316 G A rs2272629 PADI3 Nonsynonymous SNV V171M 0.089 0.096 0.085 36 105 37 0.092 25 6 3 2 2 23.5 36926 chr22 23503756 23503756 G A rs737818 RAB36 Synonymous SNV G329G 0.48 0.432 0.476 193 564 166 0.495 140 140 31 32 42 6.534 36927 chr22 23627369 23627369 A G rs140504 BCR Nonsynonymous SNV N796S 0.885 0.867 0.847 342 1039 333 0.877 249 461 143 109 153 6.042 36928 chr22 23631801 23631801 T C rs2227939 BCR Synonymous SNV N900N 0.371 0.331 0.33 138 436 127 0.354 97 87 18 13 25 2.391 36929 chr1 161682975 161682975 G A rs6688140 FCRLA Synonymous SNV P60P 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 1.583 36930 chr22 24034288 24034288 A G rs738786 RGL4 Nonsynonymous SNV Q24R 0.56 0.578 0.534 229 658 222 0.587 157 181 60 46 66 18.46 36931 chr10 99527589 99527589 C G rs139770916 SFRP5 Nonsynonymous SNV K212N 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 23.4 36932 chr1 161023074 161023074 T C rs139071778 ARHGAP30 Nonsynonymous SNV Q36R 0.014 0.01 0 3 16 4 0.008 0 0 0 0 0 16.79 36933 chr22 24035970 24035970 C T rs2070446 RGL4 Nonsynonymous SNV H241Y 0.771 0.771 0.728 284 905 296 0.728 214 348 114 77 103 0.002 36934 chr22 24038847 24038847 T C rs1007298 RGL4 Nonsynonymous SNV V378A 0.705 0.711 0.643 258 828 273 0.662 189 321 105 68 95 0.008 36935 chr1 161130701 161130701 C T rs34779722 USP21 Nonsynonymous SNV P120S 0.056 0.047 0.041 21 66 18 0.054 12 2 0 1 2 23.3 36936 chr22 24041231 24041231 G C rs80333520 RGL4 Synonymous SNV L558L 0.014 0.021 0.024 3 16 8 0.008 7 0 1 0 0 0.323 36937 chr1 156035856 156035856 G A rs190300474 RAB25 Stop gain W66X 0.007 0.013 0 7 8 5 0.018 0 0 0 0 0 38 36938 chr1 176659463 176659463 C T rs10913241 PAPPA2 Synonymous SNV P776P 0.219 0.229 0.235 84 257 88 0.215 69 36 8 11 9 10.77 36939 chr22 24056435 24056435 - G rs140350934 GUSBP11 0 0 0.177 0 0 0 0 52 0 0 5 0 36940 chr22 24086026 24086026 C T rs41277301 ZNF70 Synonymous SNV L434L 0.035 0.042 0.041 11 41 16 0.028 12 0 1 0 0 9.257 36941 chr22 24086107 24086107 A G rs5759985 ZNF70 Synonymous SNV I407I 0.344 0.331 0.34 111 404 127 0.285 100 66 26 16 16 1.46 36942 chr10 99968035 99968035 C A rs775591805 R3HCC1L Nonsynonymous SNV S55Y 0 0 0 0 0 0 0 0 0 0 0 0 0.164 36943 chr22 24107048 24107048 C T rs140565519 C22orf15 Stop gain R132X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 36944 chr22 24108412 24108412 G A rs9153 CHCHD10 Synonymous SNV Y111Y 0.816 0.815 0.724 321 958 313 0.823 213 391 124 90 133 Benign 8.692 36945 chr1 145440472 145440472 A C TXNIP Nonsynonymous SNV I205L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.14 36946 chr22 24109774 24109774 T G rs179468 CHCHD10 Synonymous SNV P16P 0.684 0.604 0.636 272 803 232 0.697 187 391 114 85 131 Benign 7.361 36947 chr22 24121378 24121378 C T rs738792 MMP11 Nonsynonymous SNV A38V 0.909 0.896 0.881 355 1067 344 0.91 259 488 152 113 161 9.671 36948 chr22 24179922 24179922 G C rs3177243 DERL3 Nonsynonymous SNV F149L 0.221 0.208 0.184 84 260 80 0.215 54 23 8 6 9 24.4 36949 chr10 27303597 27303597 T C rs770683922 ANKRD26 Nonsynonymous SNV N1516S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.017 36950 chr22 24224655 24224655 G A rs9608213 SLC2A11 Nonsynonymous SNV R232Q 0.365 0.365 0.367 150 429 140 0.385 108 108 29 23 31 10.57 36951 chr22 24224659 24224659 C A rs9612499 SLC2A11 Synonymous SNV L233L 0.367 0.372 0.367 153 431 143 0.392 108 108 30 23 31 11.13 36952 chr1 17720545 17720545 C T rs12073549 PADI6 Synonymous SNV A383A 0.166 0.161 0.187 59 195 62 0.151 55 20 9 6 5 8.423 36953 chr22 24237463 24237463 T C rs2070767 MIF-AS1 0 0 0.738 0 0 0 0 217 0 0 80 0 0.686 36954 chr22 24459438 24459438 T C rs762273 CABIN1 Synonymous SNV C521C 0.957 0.953 0.922 377 1123 366 0.967 271 538 174 125 182 2.352 36955 chr1 177901655 177901655 G A rs3748792 CRYZL2P-SEC16B, SEC16B Synonymous SNV G653G 0.233 0.24 0.245 109 274 92 0.279 72 33 12 14 18 6.948 36956 chr10 27529313 27529313 G A rs41282238 ACBD5 Nonsynonymous SNV T37M 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 Benign 26.2 36957 chr1 177901658 177901658 C T rs7554597 CRYZL2P-SEC16B, SEC16B Synonymous SNV A652A 0.233 0.24 0.238 109 274 92 0.279 70 33 12 13 18 14.93 36958 chr22 24717850 24717850 A G rs204710 SPECC1L Nonsynonymous SNV D301G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 11.61 36959 chr1 177902387 177902387 C A rs61745560 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV A588S 0.233 0.24 0.238 109 274 92 0.279 70 33 12 13 18 10.82 36960 chr22 24761467 24761467 G A rs204718 SPECC1L Nonsynonymous SNV V17M 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 17.77 36961 chr1 16256162 16256162 C T rs145802445 SPEN Nonsynonymous SNV R1143C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 20.9 36962 chr10 27687463 27687463 A G rs61739217 PTCHD3 Synonymous SNV Y688Y 0.02 0.016 0.014 12 23 6 0.031 4 1 0 0 0 0.002 36963 chr1 159032487 159032487 T - rs531843702 AIM2 T238Hfs*14 0.008 0.008 0.01 1 9 3 0.003 3 0 0 0 0 36964 chr1 177902725 177902725 C T rs3813649 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV S532N 0.233 0.24 0.245 109 274 92 0.279 72 33 12 13 18 1.3 36965 chr1 159166933 159166933 A G CADM3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.481 36966 chr22 24964128 24964128 T C rs4597 SNRPD3 Synonymous SNV A101A 0.77 0.773 0.762 295 904 297 0.756 224 347 110 91 114 10.17 36967 chr22 26157068 26157068 C G rs61734946 MYO18B Nonsynonymous SNV I3M 0.216 0.24 0.201 100 254 92 0.256 59 28 8 6 10 21.8 36968 chr1 177902753 177902753 G C rs591120 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV P523A 0.356 0.362 0.388 143 418 139 0.367 114 78 26 28 29 5.381 36969 chr1 16260330 16260330 G A SPEN Nonsynonymous SNV S2532N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.4 36970 chr22 26159234 26159234 C T MYO18B Nonsynonymous SNV P26S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 36971 chr1 177905469 177905469 C A rs7522194 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV Q504H 0.23 0.24 0.235 107 270 92 0.274 69 32 12 12 18 15.62 36972 chr22 26159289 26159289 G A rs133885 MYO18B Nonsynonymous SNV G44E 0.474 0.503 0.446 214 556 193 0.549 131 133 51 30 57 11.22 36973 chr1 149876665 149876665 G A rs13067 SV2A Synonymous SNV I162I 0.043 0.029 0.054 28 51 11 0.072 16 1 0 0 2 9.958 36974 chr22 26166900 26166900 G C rs3859866 MYO18B Nonsynonymous SNV W547C 0.973 0.979 0.997 385 1142 376 0.987 293 556 184 146 190 12.14 36975 chr1 145075775 145075775 G A rs76199660 PDE4DIP Nonsynonymous SNV P30S 0.02 0.013 0.014 10 24 5 0.026 4 0 0 0 0 25.1 36976 chr1 162740121 162740121 G A rs34722354 DDR2 Nonsynonymous SNV M441I 0.027 0.034 0.041 8 32 13 0.021 12 0 0 0 0 Conflicting interpretations of pathogenicity 21 36977 chr1 149943157 149943157 G A rs77015846 OTUD7B Synonymous SNV A36A 0.054 0.055 0.054 23 63 21 0.059 16 2 1 0 0 8.981 36978 chr22 26173661 26173661 T C rs5761170 MYO18B Nonsynonymous SNV W661R 0.967 0.979 0.993 384 1135 376 0.985 292 549 184 145 189 0.003 36979 chr1 162825457 162825457 C A rs77227460 CCDC190 Nonsynonymous SNV R93S 0.181 0.195 0.221 65 213 75 0.167 65 19 9 6 2 0.111 36980 chr1 179084080 179084080 T G rs2274230 ABL2 Synonymous SNV L477L 0.041 0.057 0.037 29 48 22 0.074 11 1 0 0 0 7.085 36981 chr22 26193982 26193982 C G rs738642 MYO18B Synonymous SNV L813L 0.727 0.768 0.697 269 853 295 0.69 205 306 113 69 93 6.918 36982 chr1 156551248 156551248 G A rs192869620 TTC24 Nonsynonymous SNV R31Q 0.014 0.013 0.02 9 16 5 0.023 6 0 0 0 0 0.243 36983 chr22 26194045 26194045 T C rs738643 MYO18B Synonymous SNV G834G 0.674 0.732 0.677 246 791 281 0.631 199 272 106 66 83 0.047 36984 chr22 26222454 26222454 C T rs9624909 MYO18B Nonsynonymous SNV S925L 0.192 0.167 0.248 87 225 64 0.223 73 18 7 8 12 33 36985 chr1 162367103 162367103 G T rs34001279 SH2D1B Nonsynonymous SNV N122K 0.128 0.109 0.099 36 150 42 0.092 29 10 2 2 4 14.18 36986 chr22 26239850 26239850 C A rs5761268 MYO18B Nonsynonymous SNV H1120Q 0.647 0.651 0.667 262 760 250 0.672 196 250 82 69 88 0.179 36987 chr1 159804940 159804940 G A rs75609405 SNHG28 0.054 0.049 0.041 11 63 19 0.028 12 1 1 0 0 6.195 36988 chr22 26304363 26304363 G A rs58609797 MYO18B Synonymous SNV E1742E 0.014 0.016 0.027 9 16 6 0.023 8 0 0 0 0 10.52 36989 chr22 26388337 26388337 C T rs916425 MYO18B Synonymous SNV Y2056Y 0.214 0.221 0.204 93 251 85 0.238 60 23 11 8 9 8.268 36990 chr1 159904050 159904050 G A rs140485589 IGSF9 Nonsynonymous SNV P345L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 36991 chr22 26422980 26422980 A G rs2236005 MYO18B Nonsynonymous SNV Q2348R 0.21 0.237 0.248 81 246 91 0.208 73 23 8 13 10 0.002 36992 chr1 179520422 179520422 T C rs3818587 NPHS2 Synonymous SNV L278L 0.038 0.049 0.037 33 45 19 0.085 11 0 0 0 1 Benign/Likely benign 0.005 36993 chr22 26695077 26695077 G T rs663048 SEZ6L Nonsynonymous SNV M430I 0.211 0.234 0.221 99 248 90 0.254 65 34 10 5 18 6.585 36994 chr1 179533915 179533915 G A rs3738423 NPHS2 Synonymous SNV S96S 0.037 0.047 0.037 32 43 18 0.082 11 0 0 0 1 Benign/Likely benign 4.103 36995 chr22 26702015 26702015 A C rs1210894 SEZ6L Synonymous SNV T473T 0.483 0.487 0.469 195 567 187 0.5 138 156 45 33 48 0.002 36996 chr22 26853905 26853905 C A rs1894704 HPS4 Nonsynonymous SNV Q620H 0.927 0.943 0.888 360 1088 362 0.923 261 507 172 120 167 Benign 23 36997 chr22 26854441 26854441 G A rs1894706 HPS4 Nonsynonymous SNV H601Y 0.929 0.943 0.901 360 1091 362 0.923 265 510 172 120 167 Benign 26.4 36998 chr22 26859942 26859942 C T rs5752330 HPS4 Nonsynonymous SNV V547M 0.906 0.911 0.864 352 1064 350 0.903 254 483 163 113 159 Benign 25.2 36999 chr1 162825063 162825063 A T rs777920824 CCDC190 Nonsynonymous SNV M134K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 37000 chr1 156639479 156639479 C G NES Nonsynonymous SNV E1501Q 0.004 0.013 0 6 5 5 0.015 0 0 0 0 0 25.7 37001 chr22 26862212 26862212 T C rs713998 HPS4 Nonsynonymous SNV E224G 0.905 0.906 0.871 352 1062 348 0.903 256 483 163 113 159 Benign 0.038 37002 chr22 26884039 26884039 G A rs4820682 SRRD Nonsynonymous SNV A99T 0.889 0.901 0.854 345 1044 346 0.885 251 463 160 109 152 1.517 37003 chr10 30315965 30315965 T A JCAD Nonsynonymous SNV N1038Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.3 37004 chr1 16345866 16345866 T C rs41269163 HSPB7 Synonymous SNV S33S 0.015 0.013 0.034 1 18 5 0.003 10 0 1 0 0 1.42 37005 chr22 26895337 26895337 G A rs1008530 TFIP11 Synonymous SNV H323H 0.88 0.896 0.84 339 1033 344 0.869 247 453 158 104 147 6.751 37006 chr22 26937327 26937327 C G rs4822735 TPST2 Synonymous SNV A90A 0.865 0.883 0.908 355 1015 339 0.91 267 437 150 122 160 12.2 37007 chr1 156640505 156640505 C T rs146715283 NES Nonsynonymous SNV G1159R 0.009 0.013 0.003 7 10 5 0.018 1 0 0 0 0 Likely benign 0.032 37008 chr22 27021457 27021457 T C rs5761637 CRYBA4 Synonymous SNV F57F 0.878 0.857 0.871 336 1031 329 0.862 256 451 140 112 144 Benign 0.322 37009 chr1 1154165 1154165 C T rs755387247 SDF4 Synonymous SNV E240E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.779 37010 chr22 28316591 28316591 - G rs75321888 MIR3199-1, MIR3199-2 0 0 0.997 0 0 0 0 293 0 0 146 0 37011 chr22 29196494 29196494 C T rs5762809 XBP1 Nonsynonymous SNV A7T 0.157 0.185 0.112 66 184 71 0.169 33 14 4 4 9 29.6 37012 chr22 29279991 29279991 C T rs1065497 ZNRF3 Synonymous SNV T79T 0.221 0.255 0.272 95 259 98 0.244 80 51 20 12 22 20.6 37013 chr22 29446611 29446611 A C rs5997435 ZNRF3 Synonymous SNV P814P 0.515 0.466 0.48 205 605 179 0.526 141 147 44 36 53 1.232 37014 chr1 180135651 180135651 C T rs367678301 QSOX1 Synonymous SNV A97A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.59 37015 chr1 16070871 16070871 C T rs7511651 TMEM82 Nonsynonymous SNV R185C 0.102 0.13 0.088 22 120 50 0.056 26 8 4 0 0 26.7 37016 chr22 29456733 29456733 T C rs6005977 C22orf31 Synonymous SNV S34S 0.709 0.706 0.66 267 832 271 0.685 194 286 93 67 93 5.443 37017 chr22 29621173 29621173 G A rs34772704 EMID1 Nonsynonymous SNV R122Q 0.013 0.01 0.01 4 15 4 0.01 3 0 0 0 0 14.16 37018 chr1 147131103 147131103 C T rs11800736 ACP6 Synonymous SNV L177L 0.035 0.039 0.048 5 41 15 0.013 14 2 0 0 0 15.55 37019 chr1 16070912 16070912 T C rs7525747 TMEM82 Synonymous SNV H198H 0.103 0.13 0.092 22 121 50 0.056 27 8 4 0 0 0.002 37020 chr1 1475089 1475089 G C TMEM240 Nonsynonymous SNV R47G 0.003 0 0 0 3 0 0 0 0 0 0 0 32 37021 chr22 29727866 29727866 C T rs174765 AP1B1 Synonymous SNV A756A 0.549 0.534 0.51 202 645 205 0.518 150 182 55 37 55 13.25 37022 chr1 15668319 15668319 G A rs12126178 FHAD1 Nonsynonymous SNV R665Q 0.081 0.081 0.082 33 95 31 0.085 24 5 3 2 0 1.368 37023 chr22 29727886 29727886 T C rs2857465 AP1B1 Nonsynonymous SNV T750A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.161 37024 chr1 151115017 151115017 G A rs74949844 SEMA6C Synonymous SNV P27P 0.052 0.039 0.071 22 61 15 0.056 21 2 0 0 0 5.96 37025 chr10 32635834 32635834 G A rs11597888 EPC1 Synonymous SNV L4L 0.136 0.143 0.153 56 160 55 0.144 45 12 7 6 2 14.03 37026 chr22 29755888 29755888 T C rs2072051 AP1B1 Synonymous SNV L68L 0.532 0.503 0.473 180 624 193 0.462 139 177 52 31 41 8.737 37027 chr22 29881828 29881828 C T rs165734 NEFH Synonymous SNV A400A 0.117 0.117 0.092 32 137 45 0.082 27 12 4 1 1 Benign 18.37 37028 chr1 180886039 180886039 C T rs61811250 KIAA1614 Nonsynonymous SNV P267L 0.042 0.029 0.02 17 49 11 0.044 6 1 0 0 0 24.4 37029 chr22 29908072 29908072 C T rs1049534 THOC5 Nonsynonymous SNV V579I 0.26 0.281 0.276 88 305 108 0.226 81 37 14 14 10 0.015 37030 chr1 160921049 160921049 A G rs6693472 ITLN2 Synonymous SNV G75G 0.016 0.023 0.003 5 19 9 0.013 1 0 0 0 0 0.005 37031 chr22 29913272 29913272 C T rs737976 THOC5 Nonsynonymous SNV V525I 0.474 0.477 0.507 176 556 183 0.451 149 132 44 38 40 0.003 37032 chr1 156785810 156785810 C G rs145574758 SH2D2A Synonymous SNV L9L 0.02 0.021 0.02 18 23 8 0.046 6 1 0 0 0 1.725 37033 chr1 160922421 160922421 T G rs145457015 ITLN2 Nonsynonymous SNV H61P 0.012 0.01 0.003 5 14 4 0.013 1 0 0 0 0 0.002 37034 chr1 156814027 156814027 G A rs56252149 INSRR Nonsynonymous SNV P928L 0.125 0.115 0.139 59 147 44 0.151 41 10 1 2 5 Benign 11.86 37035 chr22 30405151 30405151 T C rs41157 HORMAD2-AS1 0.614 0.672 0.65 255 721 258 0.654 191 213 82 58 82 0.097 37036 chr1 180897634 180897634 G A rs140222211 KIAA1614 Nonsynonymous SNV R377H 0.015 0.013 0.003 2 18 5 0.005 1 0 0 0 0 22.6 37037 chr22 30688659 30688659 C T rs4823086 TBC1D10A Nonsynonymous SNV R418H 0.165 0.141 0.16 56 194 54 0.144 47 8 3 4 4 24.8 37038 chr22 30700607 30700607 T G rs4823089 TBC1D10A Synonymous SNV V81V 0.307 0.237 0.31 105 360 91 0.269 91 51 9 17 10 9.467 37039 chr1 161007782 161007782 C T rs373198140 TSTD1 Nonsynonymous SNV E32K 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 17.41 37040 chr10 102987160 102987160 G T rs199819784 LBX1 Nonsynonymous SNV P238H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.13 37041 chr22 30733111 30733111 C A rs2229807 SF3A1 Synonymous SNV V670V 0.305 0.232 0.327 105 358 89 0.269 96 51 9 17 10 16.32 37042 chr22 30762140 30762140 G A rs740223 CCDC157 Nonsynonymous SNV D51N 0.305 0.232 0.33 106 358 89 0.272 97 51 9 17 10 27 37043 chr1 16101217 16101217 C T rs41268337 FBLIM1 Synonymous SNV C175C 0.119 0.141 0.126 46 140 54 0.118 37 15 4 4 1 16.17 37044 chr1 161017765 161017765 G A rs140478074 ARHGAP30 Nonsynonymous SNV R839W 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 23.1 37045 chr22 30765249 30765249 T G rs5753101 KIAA1656 0 0 0.265 0 0 0 0 78 0 0 17 0 3.186 37046 chr1 16730308 16730308 G T rs41269193 SPATA21 Nonsynonymous SNV H282Q 0.089 0.109 0.065 35 104 42 0.09 19 5 3 1 2 5.324 37047 chr22 30765502 30765502 G A rs5749080 CCDC157 Synonymous SNV A110A 0.305 0.232 0.33 106 358 89 0.272 97 51 9 17 10 10.29 37048 chr22 30766179 30766179 C T rs7287908 KIAA1656 0 0 0.33 0 0 0 0 97 0 0 17 0 5.136 37049 chr1 181058618 181058618 C G rs1416829 IER5 Nonsynonymous SNV R194G 0.212 0.169 0.194 66 249 65 0.169 57 80 21 17 24 0.025 37050 chr22 30767536 30767536 T G rs11705092 KIAA1656 0.248 0.19 0.306 88 291 73 0.226 90 51 9 16 11 5.626 37051 chr1 16731510 16731510 C G rs525409 SPATA21 Nonsynonymous SNV V232L 0.268 0.227 0.276 123 315 87 0.315 81 50 6 12 17 0.544 37052 chr22 30767729 30767729 A G rs1076298 KIAA1656 0.304 0.227 0.33 106 357 87 0.272 97 51 9 17 10 1.41 37053 chr1 181058643 181058643 A G rs1361365 IER5 Nonsynonymous SNV Q202R 0.785 0.755 0.68 300 922 290 0.769 200 461 145 99 150 0.001 37054 chr22 30767781 30767781 C T rs1076299 KIAA1656 0.297 0.224 0.316 103 349 86 0.264 93 51 9 17 10 3.152 37055 chr1 167792356 167792356 G A rs72697797 ADCY10 Nonsynonymous SNV P1200L 0.011 0.013 0.01 5 13 5 0.013 3 0 0 0 0 1.885 37056 chr22 30769477 30769477 A - rs3840093 KIAA1656 0.305 0.232 0.293 106 358 89 0.272 86 51 9 17 10 37057 chr1 161021430 161021430 A G rs147935735 ARHGAP30 Nonsynonymous SNV I188T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 7.653 37058 chr22 30769901 30769901 G C rs4820838 KIAA1656 0.305 0.232 0.323 106 358 89 0.272 95 51 9 17 10 3.114 37059 chr22 30769906 30769906 T C rs4820839 KIAA1656 0.305 0.232 0.316 106 358 89 0.272 93 51 9 17 10 4.731 37060 chr1 18149510 18149510 G T rs694214 ACTL8 Nonsynonymous SNV A3S 0.384 0.401 0.344 155 451 154 0.397 101 91 33 17 29 0.004 37061 chr22 30770603 30770603 T A rs5749082 KIAA1656 0.766 0.771 0.847 296 899 296 0.759 249 342 109 106 112 5.669 37062 chr22 30770626 30770626 G C rs5753105 KIAA1656 0.305 0.232 0.33 106 358 89 0.272 97 51 9 17 10 1.048 37063 chr22 30771458 30771458 T C rs1002189 KIAA1656 0.305 0.232 0.33 106 358 89 0.272 97 51 9 17 10 0.652 37064 chr10 33623251 33623251 G A rs3750733 NRP1 Synonymous SNV G20G 0.038 0.031 0.061 28 45 12 0.072 18 2 0 1 0 12.44 37065 chr1 18149566 18149566 C A rs2296035 ACTL8 Synonymous SNV G21G 0.407 0.419 0.354 158 478 161 0.405 104 102 36 17 29 9.354 37066 chr22 30771554 30771554 T G rs2015035 CCDC157 Nonsynonymous SNV S587A 0.952 0.948 0.963 351 1118 364 0.9 283 532 172 136 159 17.96 37067 chr22 30776095 30776095 C T rs5749088 RNF215 Nonsynonymous SNV A322T 0.304 0.232 0.327 106 357 89 0.272 96 51 9 16 10 1.586 37068 chr1 161163788 161163788 G A rs114264712 ADAMTS4 Synonymous SNV C495C 0.02 0.016 0 6 23 6 0.015 0 1 1 0 0 7.245 37069 chr1 181727947 181727947 C T rs201602244 CACNA1E Synonymous SNV A1497A 0.015 0.008 0.003 4 18 3 0.01 1 0 0 0 0 Benign 16.89 37070 chr22 30927975 30927975 C T rs5749118 SEC14L6 Nonsynonymous SNV R145K 0.881 0.878 0.867 345 1034 337 0.885 255 456 147 112 155 3.8 37071 chr1 152082393 152082393 C T rs375717600 TCHH Synonymous SNV K1100K 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 13.05 37072 chr22 30934816 30934816 T C rs5753190 SEC14L6 Nonsynonymous SNV Q43R 0.818 0.792 0.769 296 960 304 0.759 226 386 121 89 109 0.001 37073 chr1 182026278 182026278 G A rs144343224 ZNF648 Nonsynonymous SNV H290Y 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.9 37074 chr10 35930112 35930112 G C FZD8 Synonymous SNV P82P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.12 37075 chr1 167097449 167097449 C T rs141448679 DUSP27 Synonymous SNV N1027N 0.017 0.016 0.02 11 20 6 0.028 6 0 0 0 0 Benign 4.867 37076 chr22 30934887 30934887 G A rs5753191 SEC14L6 Synonymous SNV F19F 0.549 0.547 0.575 197 645 210 0.505 169 161 59 51 47 6.274 37077 chr22 30953295 30953295 C T rs2267161 GAL3ST1 Nonsynonymous SNV V29M 0.336 0.326 0.337 108 395 125 0.277 99 61 22 22 17 22.8 37078 chr1 158325891 158325891 T C rs61734679 CD1E Synonymous SNV H111H 0.016 0.013 0.007 6 19 5 0.015 2 0 0 0 0 0.005 37079 chr22 31266546 31266546 T C rs2301816 OSBP2 Synonymous SNV A70A 0.652 0.638 0.65 249 765 245 0.638 191 261 75 63 78 4.728 37080 chr22 31285680 31285680 G A rs5749186 LOC107985544 0.543 0.594 0.548 216 638 228 0.554 161 174 65 42 57 1.228 37081 chr22 31318341 31318341 C T rs9609157 MORC2-AS1 0 0 0.252 0 0 0 0 74 0 0 9 0 7.412 37082 chr22 31329003 31329003 C T rs370149816 MORC2 Nonsynonymous SNV V799M 0 0 0.003 0 0 0 0 1 0 0 0 0 35 37083 chr22 31491295 31491295 G C rs3205187 SMTN Nonsynonymous SNV A603P 0.702 0.646 0.714 279 824 248 0.715 210 288 82 74 99 9.663 37084 chr1 169483561 169483561 T C rs6027 F5 Nonsynonymous SNV D2222G 0.086 0.086 0.075 11 101 33 0.028 22 6 1 0 1 Benign/Likely benign 27.3 37085 chr1 167381251 167381251 A G rs2229284 POU2F1 Synonymous SNV P474P 0.058 0.055 0.031 21 68 21 0.054 9 2 1 0 0 2.766 37086 chr22 31521404 31521404 G A rs2240432 INPP5J Nonsynonymous SNV A227T 0.296 0.315 0.32 111 347 121 0.285 94 49 16 17 10 1.416 37087 chr22 31521850 31521850 A C rs2240431 INPP5J Synonymous SNV T375T 0.88 0.862 0.912 346 1033 331 0.887 268 455 144 121 152 2.44 37088 chr1 167825606 167825606 A G rs2071922 ADCY10 Synonymous SNV F503F 0.197 0.193 0.204 61 231 74 0.156 60 20 9 9 6 0.006 37089 chr22 31536133 31536133 A C rs2232176 PLA2G3 Nonsynonymous SNV S70A 0.861 0.854 0.905 339 1011 328 0.869 266 436 142 121 147 0.404 37090 chr1 167839578 167839578 G A rs67878347 ADCY10 Synonymous SNV V358V 0.177 0.201 0.167 54 208 77 0.138 49 20 9 7 7 8.338 37091 chr10 43615094 43615094 C T rs1800862 RET Synonymous SNV S582S 0.064 0.047 0.092 21 75 18 0.054 27 1 0 1 0 Benign/Likely benign 12.97 37092 chr22 31536134 31536134 - T rs573436695 PLA2G3 Frameshift insertion S70Vfs*3 0.004 0 0.024 2 5 0 0.005 7 0 0 0 0 37093 chr1 169510348 169510348 T C rs1800595 F5 Nonsynonymous SNV H1327R 0.082 0.081 0.065 12 96 31 0.031 19 6 1 0 1 Benign/Likely benign 5.932 37094 chr1 167893759 167893759 G A rs9618 MPC2 Synonymous SNV F42F 0.171 0.206 0.367 90 201 79 0.231 108 54 21 24 22 12.36 37095 chr22 31556103 31556103 A G rs5997893 MIR3928 0 0 0.442 0 0 0 0 130 0 0 59 0 4.646 37096 chr10 43650915 43650915 C T rs41298781 CSGALNACT2 Synonymous SNV G106G 0.067 0.047 0.092 23 79 18 0.059 27 2 0 1 0 12.71 37097 chr22 31621792 31621792 G A rs5997917 LIMK2 Nonsynonymous SNV G35S 0.12 0.12 0.143 45 141 46 0.115 42 9 4 3 2 1.316 37098 chr10 43654194 43654194 A G rs35718664 CSGALNACT2 Synonymous SNV T231T 0.066 0.047 0.092 23 78 18 0.059 27 2 0 1 0 2.25 37099 chr22 31663842 31663842 C G rs2228619 LIMK2 Synonymous SNV L382L 0.792 0.766 0.847 318 930 294 0.815 249 372 117 104 131 12.64 37100 chr10 43696279 43696279 A G rs41301585 RASGEF1A Synonymous SNV L181L 0.071 0.052 0.095 24 83 20 0.062 28 2 0 2 0 7.51 37101 chr1 169511878 169511878 T G rs6018 F5 Nonsynonymous SNV N817T 0.087 0.086 0.071 12 102 33 0.031 21 6 1 0 1 Benign/Likely benign 11.75 37102 chr22 31679110 31679110 G C rs2040533 PIK3IP1 Nonsynonymous SNV T251S 0.797 0.768 0.847 318 936 295 0.815 249 374 118 104 131 0.002 37103 chr22 31971258 31971258 T C rs5753700 SFI1 Nonsynonymous SNV Y240H 0.934 0.953 0.952 368 1097 366 0.944 280 513 174 133 175 0.016 37104 chr1 169512039 169512039 T C rs6024 F5 Synonymous SNV E763E 0.087 0.086 0.071 12 102 33 0.031 21 6 1 0 1 Benign/Likely benign 0.51 37105 chr1 169513583 169513583 G T rs6037 F5 Synonymous SNV T642T 0.091 0.091 0.075 16 107 35 0.041 22 5 1 0 1 Benign/Likely benign 9.122 37106 chr22 31971282 31971282 T C rs16989291 SFI1 Nonsynonymous SNV W248R 0.094 0.089 0.116 37 110 34 0.095 34 8 2 3 2 14.04 37107 chr10 43977172 43977172 T G rs147311074 ZNF487 Synonymous SNV R146R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.522 37108 chr1 169515726 169515726 C T rs6036 F5 Synonymous SNV E572E 0.091 0.094 0.071 15 107 36 0.038 21 5 1 0 1 Benign/Likely benign 13.81 37109 chr22 32011225 32011225 T C rs12171042 SFI1 Nonsynonymous SNV L1032P 0.299 0.313 0.282 118 351 120 0.303 83 56 19 12 18 4.789 37110 chr1 152081623 152081623 T C rs187205661 TCHH Nonsynonymous SNV E1357G 0.01 0.005 0.01 5 12 2 0.013 3 0 0 0 0 10.78 37111 chr1 158450382 158450382 C T rs1418843 OR10R2 Nonsynonymous SNV L239F 0.403 0.401 0.425 167 473 154 0.428 125 93 34 25 36 16.35 37112 chr1 163297322 163297322 A C rs16852612 NUF2 Synonymous SNV V56V 0.125 0.151 0.146 42 147 58 0.108 43 7 1 1 5 6.751 37113 chr22 32506104 32506104 G A rs33943816 SLC5A1 Synonymous SNV T506T 0.055 0.049 0.065 28 64 19 0.072 19 2 0 0 1 Benign 15.32 37114 chr1 169346256 169346256 - A rs538684544 BLZF1 Frameshift insertion Y170Ifs*53 0.015 0.01 0.01 6 18 4 0.015 3 0 0 0 0 37115 chr22 32554985 32554985 A G rs5998267 C22orf42 Nonsynonymous SNV L73P 0.463 0.503 0.408 186 544 193 0.477 120 129 47 24 38 0.595 37116 chr1 184672098 184672098 G A rs78444298 EDEM3 Nonsynonymous SNV P746S 0.009 0.005 0.01 9 10 2 0.023 3 0 0 0 0 24.6 37117 chr1 169519894 169519894 G A rs6015 F5 Synonymous SNV N460N 0.091 0.094 0.071 15 107 36 0.038 21 5 1 0 1 Benign/Likely benign 8.897 37118 chr22 32665756 32665756 C A rs738201 SLC5A4-AS1 0 0 0.707 0 0 0 0 208 0 0 76 0 6.283 37119 chr22 32667191 32667191 T G rs5749365 SLC5A4-AS1 0 0 0.554 0 0 0 0 163 0 0 63 0 8.854 37120 chr1 169521853 169521853 A G rs6033 F5 Nonsynonymous SNV M413T 0.092 0.094 0.071 15 108 36 0.038 21 5 1 0 1 Benign/Likely benign 0.002 37121 chr22 32795641 32795641 C T rs5749426 RTCB Synonymous SNV Q201Q 0.324 0.318 0.313 120 380 122 0.308 92 56 19 12 19 12.87 37122 chr22 33253280 33253280 T C rs9862 TIMP3 Synonymous SNV H83H 0.549 0.563 0.544 211 644 216 0.541 160 186 65 44 61 Benign 2.597 37123 chr1 158517142 158517142 C T rs41273491 OR6Y1 Nonsynonymous SNV V252I 0.222 0.216 0.262 82 261 83 0.21 77 34 13 6 7 18.47 37124 chr22 35463162 35463162 A G rs361863 ISX Nonsynonymous SNV S28G 0.721 0.734 0.714 275 847 282 0.705 210 309 101 75 93 11.23 37125 chr1 184723634 184723634 T C rs145069692 EDEM3 Synonymous SNV K49K 0.011 0.005 0.003 2 13 2 0.005 1 1 0 0 0 0.27 37126 chr10 105765745 105765745 A G rs805662 SLK Synonymous SNV L852L 0.011 0.01 0.024 12 13 4 0.031 7 0 0 0 0 10.72 37127 chr1 158517353 158517353 G A rs16840314 OR6Y1 Synonymous SNV H181H 0.222 0.216 0.262 79 261 83 0.203 77 34 13 6 6 1.128 37128 chr1 184764681 184764681 G A rs35545276 NIBAN1 Synonymous SNV H739H 0.049 0.049 0.075 22 57 19 0.056 22 0 0 3 0 4.842 37129 chr22 35463179 35463179 T C rs361668 ISX Synonymous SNV I33I 0.721 0.734 0.714 275 846 282 0.705 210 308 101 75 93 5.465 37130 chr1 158533140 158533140 A G rs12080815 OR6P1 Synonymous SNV F85F 0.433 0.422 0.476 180 508 162 0.462 140 105 38 35 43 0.002 37131 chr22 35481493 35481493 C T rs61735502 ISX Nonsynonymous SNV T182M 0.113 0.096 0.102 39 133 37 0.1 30 12 4 2 0 0.198 37132 chr1 184764824 184764824 C T rs35704242 NIBAN1 Nonsynonymous SNV D692N 0.049 0.049 0.071 22 57 19 0.056 21 0 0 3 0 8.034 37133 chr1 169524537 169524537 C G rs118203906 F5 Nonsynonymous SNV R334T 0.003 0 0 0 4 0 0 0 0 0 0 0 Pathogenic 22.9 37134 chr1 158533224 158533224 A G rs12081915 OR6P1 Synonymous SNV R57R 0.433 0.427 0.48 180 508 164 0.462 141 105 39 35 43 0.029 37135 chr22 35660875 35660875 G T rs1053593 HMGXB4 Nonsynonymous SNV G56V 0.647 0.648 0.629 248 760 249 0.636 185 241 77 59 86 8.104 37136 chr1 158549264 158549264 G A rs863360 OR10X1 Synonymous SNV I142I 0.433 0.422 0.476 180 508 162 0.462 140 105 38 35 43 2.096 37137 chr10 105816892 105816892 C T rs805697 COL17A1 Nonsynonymous SNV G436R 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Benign 10.63 37138 chr1 158549420 158549420 C T rs863361 OR10X1 Synonymous SNV T90T 0.433 0.424 0.476 180 508 163 0.462 140 105 38 35 43 8.979 37139 chr1 169551682 169551682 T C rs6028 F5 Synonymous SNV Q79Q 0.227 0.208 0.075 88 266 80 0.226 22 39 11 6 13 Benign/Likely benign 1.069 37140 chr22 35802686 35802686 C T rs2230932 MCM5 Synonymous SNV L188L 0.026 0.021 0.017 22 30 8 0.056 5 0 0 0 0 16.66 37141 chr22 36122517 36122517 T C rs17723764 APOL5 Synonymous SNV L134L 0.396 0.401 0.367 149 465 154 0.382 108 86 28 21 33 0.003 37142 chr22 36123083 36123083 C T rs2076672 APOL5 Nonsynonymous SNV T323M 0.302 0.263 0.262 107 354 101 0.274 77 50 12 15 15 24.1 37143 chr1 184853890 184853890 T C rs140191774 NIBAN1 Nonsynonymous SNV K160E 0.02 0.01 0.003 6 23 4 0.015 1 1 0 0 0 19.51 37144 chr1 158549492 158549492 C T rs863362 OR10X1 Stop gain W66X 0.433 0.422 0.476 180 508 162 0.462 140 105 38 35 43 35 37145 chr22 36537500 36537500 A T rs132618 APOL3 Synonymous SNV G319G 0.519 0.482 0.524 196 609 185 0.503 154 151 44 37 54 2.492 37146 chr1 158549511 158549511 A G rs863363 OR10X1 Nonsynonymous SNV I60T 0.433 0.424 0.476 180 508 163 0.462 140 105 38 35 43 0.003 37147 chr1 152329677 152329677 G A rs142857077 FLG2 Synonymous SNV D195D 0.007 0.005 0.007 7 8 2 0.018 2 0 0 0 0 0.006 37148 chr22 36537893 36537893 A G rs3827346 APOL3 Synonymous SNV N188N 0.193 0.198 0.17 63 227 76 0.162 50 26 3 4 6 0.008 37149 chr22 36556823 36556823 G T rs132653 APOL3 Nonsynonymous SNV S39R 0.845 0.836 0.816 319 992 321 0.818 240 420 133 99 129 0.006 37150 chr1 158577109 158577109 A C rs857685 OR10Z1 Nonsynonymous SNV N294T 0.231 0.237 0.265 78 271 91 0.2 78 37 14 8 8 23.7 37151 chr22 36691607 36691607 A C rs710181 MYH9 Synonymous SNV A1143A 0.973 0.964 0.956 370 1142 370 0.949 281 557 178 136 175 Benign 0.048 37152 chr22 36894162 36894162 C T rs115859277 FOXRED2 Nonsynonymous SNV V330I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 37153 chr10 105948030 105948030 T G rs200902358 CFAP43 Nonsynonymous SNV Q562P 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 6.073 37154 chr22 36900271 36900271 T C rs2277841 FOXRED2 Nonsynonymous SNV N308S 0.74 0.763 0.721 293 869 293 0.751 212 319 113 76 111 0.001 37155 chr1 152681603 152681603 A G rs41268472 LCE4A Nonsynonymous SNV I18V 0.049 0.047 0.048 37 58 18 0.095 14 1 1 0 1 0.004 37156 chr22 36900806 36900806 A G rs760718 FOXRED2 Nonsynonymous SNV F179L 0.603 0.638 0.592 229 708 245 0.587 174 209 77 53 69 0.009 37157 chr10 106037686 106037686 C T rs763192301 GSTO2 Nonsynonymous SNV P32S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 32 37158 chr22 36912630 36912630 A G rs11558519 EIF3D Synonymous SNV D367D 0.06 0.055 0.058 20 70 21 0.051 17 1 0 0 1 8.508 37159 chr22 36922052 36922052 T C rs9622410 EIF3D Synonymous SNV L39L 0.058 0.055 0.058 19 68 21 0.049 17 1 0 0 1 3.299 37160 chr1 152975659 152975682 GAGCCAGGCTGTACCAAGGTCCCT - rs869034188 SPRR3 C98_G105del 0.139 0.164 0.092 40 163 63 0.103 27 77 29 12 18 37161 chr22 37163080 37163080 C T rs1048015 LOC105373021 0 0 0.759 0 0 0 0 223 0 0 94 0 0.654 37162 chr22 37271882 37271882 T C rs2075939 NCF4 Nonsynonymous SNV L272P 0.828 0.844 0.806 326 972 324 0.836 237 400 140 97 138 Benign 13.63 37163 chr1 18807536 18807536 G T rs7512414 KLHDC7A Nonsynonymous SNV V21L 0.13 0.096 0.126 62 153 37 0.159 37 8 3 2 1 10.56 37164 chr1 18807620 18807620 G C rs34109355 KLHDC7A Nonsynonymous SNV G49R 0.13 0.096 0.126 62 153 37 0.159 37 8 3 2 1 23.4 37165 chr22 37325833 37325833 C T rs16846 CSF2RB Synonymous SNV C234C 0.094 0.07 0.088 49 110 27 0.126 26 5 0 0 1 Benign 6.333 37166 chr22 37329999 37329999 C T rs1801117 CSF2RB Synonymous SNV S426S 0.251 0.229 0.241 80 295 88 0.205 71 30 8 7 6 Benign 13.74 37167 chr1 166958601 166958601 T C rs2296837 MAEL Synonymous SNV R4R 0.158 0.169 0.173 59 186 65 0.151 51 15 6 1 4 7.113 37168 chr22 37333794 37333794 A G rs131840 CSF2RB Synonymous SNV P648P 0.768 0.784 0.724 297 902 301 0.762 213 354 119 78 114 Benign 0.004 37169 chr1 18807755 18807755 G A rs34976233 KLHDC7A Nonsynonymous SNV G94S 0.128 0.089 0.126 62 150 34 0.159 37 8 3 2 1 11.03 37170 chr1 170965681 170965681 T C rs9427213 MROH9 Synonymous SNV N457N 0.172 0.161 0.139 70 202 62 0.179 41 18 5 4 8 4.338 37171 chr1 166958710 166958710 T G rs11578336 MAEL Nonsynonymous SNV S41A 0.158 0.169 0.17 59 185 65 0.151 50 15 6 1 4 0.001 37172 chr22 37453452 37453452 C T rs710185 KCTD17 Synonymous SNV H142H 0.941 0.924 0.888 366 1105 355 0.938 261 520 164 122 171 16.2 37173 chr22 37462926 37462926 G A rs2235321 TMPRSS6 Synonymous SNV Y730Y 0.348 0.362 0.371 127 409 139 0.326 109 61 21 17 17 Benign 6.979 37174 chr1 18807781 18807781 C T rs35013594 KLHDC7A Synonymous SNV G102G 0.129 0.094 0.126 62 151 36 0.159 37 8 3 2 1 10.24 37175 chr22 37462936 37462936 A G rs855791 TMPRSS6 Nonsynonymous SNV V727A 0.497 0.534 0.52 205 584 205 0.526 153 134 58 41 53 Benign 13.41 37176 chr1 18808056 18808056 G C rs7515150 KLHDC7A Nonsynonymous SNV R194P 0.13 0.096 0.126 62 153 37 0.159 37 8 3 2 1 0.693 37177 chr22 37469591 37469591 G A rs4820268 TMPRSS6 Synonymous SNV D512D 0.482 0.505 0.486 207 566 194 0.531 143 127 55 40 55 Benign 0.812 37178 chr22 37524619 37524619 G T rs228942 IL2RB Nonsynonymous SNV D391E 0.144 0.159 0.167 55 169 61 0.141 49 6 6 3 3 0.02 37179 chr1 152785170 152785170 G A rs56056379 LCE1B Nonsynonymous SNV R83H 0.027 0.016 0.031 10 32 6 0.026 9 0 0 1 0 5.254 37180 chr1 18808069 18808069 A G rs7528572 KLHDC7A Synonymous SNV G198G 0.131 0.096 0.126 62 154 37 0.159 37 8 3 2 1 1.588 37181 chr22 37531436 37531436 G A rs228953 IL2RB Synonymous SNV G250G 0.358 0.391 0.347 151 420 150 0.387 102 70 32 18 27 7.741 37182 chr1 120469147 120469147 T C rs61752484 NOTCH2 Nonsynonymous SNV D1327G 0.014 0.016 0.017 4 17 6 0.01 5 0 0 1 0 Benign 20.4 37183 chr22 37581422 37581422 G C rs229526 C1QTNF6 Nonsynonymous SNV P42R 0.231 0.198 0.211 96 271 76 0.246 62 39 7 10 15 14.68 37184 chr1 167096931 167096931 A C rs267746 DUSP27 Nonsynonymous SNV K855Q 0.161 0.125 0.109 65 189 48 0.167 32 19 3 1 4 0.006 37185 chr22 37581485 37581485 C A rs229527 C1QTNF6 Nonsynonymous SNV G21V 0.436 0.438 0.425 173 512 168 0.444 125 116 41 33 39 26.1 37186 chr22 37770066 37770066 G T rs8142615 ELFN2 Synonymous SNV I503I 0.309 0.31 0.286 117 363 119 0.3 84 49 19 11 12 4.55 37187 chr1 1900186 1900186 T C rs35269416 CFAP74 Nonsynonymous SNV K378R 0.239 0.237 0.286 88 281 91 0.226 84 34 12 11 4 3.097 37188 chr22 37770357 37770357 A G rs7292751 ELFN2 Synonymous SNV F406F 0.318 0.331 0.299 127 373 127 0.326 88 53 22 12 18 0.176 37189 chr1 153066049 153066049 G A rs749383223 SPRR2E Nonsynonymous SNV S60F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.098 37190 chr1 153363021 153363021 G A rs149573883 S100A8 Synonymous SNV S21S 0.011 0.016 0.01 6 13 6 0.015 3 0 0 0 1 8.343 37191 chr1 158687318 158687318 C T rs139396690 OR6K3 Synonymous SNV L196L 0.009 0.016 0.007 9 11 6 0.023 2 0 0 0 0 11.86 37192 chr22 37771158 37771158 G A rs2071857 ELFN2 Synonymous SNV I139I 0.391 0.383 0.357 153 459 147 0.392 105 82 25 19 24 8.061 37193 chr1 153789941 153789941 G A GATAD2B Synonymous SNV N269N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.731 37194 chr22 37900243 37900243 G A rs3817802 CARD10 Synonymous SNV A528A 0.046 0.042 0.058 11 54 16 0.028 17 1 0 0 0 6.162 37195 chr1 15390080 15390080 G A rs538840624 KAZN Nonsynonymous SNV G260S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 37196 chr22 38051999 38051999 C T rs12483880 SH3BP1 Nonsynonymous SNV A587V 0.491 0.518 0.466 191 576 199 0.49 137 142 54 31 42 12.32 37197 chr1 153907305 153907305 - C rs35902206 DENND4B Frameshift insertion Q913Afs*62 0.03 0.023 0.024 19 35 9 0.049 7 0 0 0 0 37198 chr22 38119213 38119213 G A rs12628603 TRIOBP Nonsynonymous SNV S217N 0.5 0.484 0.463 203 587 186 0.521 136 148 49 31 50 Benign 23.2 37199 chr1 153907306 153907306 - GC rs375088543 DENND4B Frameshift insertion Q913Hfs*48 0.021 0.023 0.024 15 25 9 0.038 7 0 0 0 0 37200 chr1 172277925 172277925 C T rs34870740 DNM3 Synonymous SNV V609V 0.106 0.125 0.088 38 125 48 0.097 26 5 4 1 2 13.85 37201 chr22 38119755 38119757 CAA - rs55745992 TRIOBP Q398del 0.325 0.315 0.282 136 382 121 0.349 83 63 21 13 19 37202 chr1 19199448 19199448 G T rs61757683 ALDH4A1 Nonsynonymous SNV T477N 0.012 0.01 0.01 6 14 4 0.015 3 0 0 0 0 Benign 26.9 37203 chr22 38120176 38120178 CCT - rs36219868 TRIOBP S540del 0.244 0.229 0.218 106 287 88 0.272 64 0 0 0 0 37204 chr22 38121152 38121152 C A rs9610841 TRIOBP Nonsynonymous SNV N863K 0.325 0.315 0.282 136 382 121 0.349 83 63 21 13 19 Benign 22.8 37205 chr22 38122122 38122122 T C rs5756795 TRIOBP Nonsynonymous SNV F1187L 0.325 0.315 0.282 136 382 121 0.349 83 63 21 13 19 Benign 14.29 37206 chr1 15438828 15438833 TGTGTG - TMEM51-AS1 0.006 0 0 3 7 0 0.008 0 0 0 0 0 37207 chr22 38122448 38122448 C T rs739137 TRIOBP Synonymous SNV S1295S 0.305 0.289 0.248 133 358 111 0.341 73 63 21 13 20 Benign 13.07 37208 chr22 38122462 38122462 A G rs739138 TRIOBP Nonsynonymous SNV H1300R 0.664 0.706 0.66 263 780 271 0.674 194 281 110 67 94 Benign 0.028 37209 chr22 38129332 38129332 G A rs7284476 TRIOBP Synonymous SNV Q1325Q 0.325 0.315 0.272 136 382 121 0.349 80 63 21 13 19 Benign 10.47 37210 chr22 38130472 38130472 T C rs8140958 TRIOBP Nonsynonymous SNV W1377R 0.924 0.956 0.939 360 1085 367 0.923 276 502 175 129 165 Benign 0.001 37211 chr22 38220964 38220964 T C rs8138029 GALR3 Synonymous SNV A198A 0.572 0.534 0.517 245 672 205 0.628 152 199 59 46 79 0.999 37212 chr22 38221141 38221141 C T rs117618411 GALR3 Synonymous SNV C257C 0.058 0.034 0.041 26 68 13 0.067 12 1 0 0 1 11.72 37213 chr22 38341134 38341134 T C rs139859 C22orf23 Synonymous SNV T111T 0.619 0.578 0.629 246 727 222 0.631 185 227 66 60 78 0.065 37214 chr1 158969797 158969797 A G rs72480248 PYDC5 Synonymous SNV G102G 0.014 0.016 0 3 17 6 0.008 0 0 0 0 0 4.338 37215 chr1 158969936 158969936 T C rs41264051 PYDC5 Nonsynonymous SNV H56R 0.014 0.016 0 3 17 6 0.008 0 0 0 0 0 3.044 37216 chr22 38369976 38369976 A G rs139884 SOX10 Synonymous SNV H309H 0.595 0.557 0.602 231 698 214 0.592 177 209 61 57 68 Benign 0.002 37217 chr22 38474696 38474696 A G rs2076371 SLC16A8 Nonsynonymous SNV V405A 0.731 0.732 0.752 289 858 281 0.741 221 321 100 87 102 1.374 37218 chr1 17326767 17326767 C T rs56367069 ATP13A2 Nonsynonymous SNV R289Q 0.013 0.013 0.02 7 15 5 0.018 6 0 0 0 0 Benign/Likely benign 16.94 37219 chr22 38477342 38477342 T A rs4289289 SLC16A8 Nonsynonymous SNV R235W 0.467 0.44 0.449 189 548 169 0.485 132 130 42 36 49 24.1 37220 chr1 12835158 12835158 G A rs77870074 PRAMEF12 Nonsynonymous SNV E50K 0.018 0.026 0.031 4 21 10 0.01 9 2 0 0 0 21.9 37221 chr22 38477930 38477930 G A rs2235573 SLC16A8 Synonymous SNV L108L 0.466 0.432 0.463 192 547 166 0.492 136 128 42 37 49 12.48 37222 chr22 38506509 38506509 A G rs4820313 BAIAP2L2 Synonymous SNV F8F 1 1 0.983 389 1174 384 0.997 289 587 192 144 194 3.482 37223 chr22 38823136 38823136 T C rs196059 KCNJ4 Synonymous SNV S334S 0.635 0.63 0.69 249 745 242 0.638 203 243 76 70 78 1.85 37224 chr1 154842199 154842199 - GCTGCTGCT rs3831942 KCNN3 Q80_P81insQQQ 0.085 0.065 0.024 45 100 25 0.115 7 9 3 3 4 37225 chr1 154960714 154960714 G A rs768977246 FLAD1 Nonsynonymous SNV R169H 0.002 0 0 0 2 0 0 0 0 0 0 0 29 37226 chr22 38875632 38875632 A G rs138428820 KDELR3 Nonsynonymous SNV Y76C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.2 37227 chr22 38877461 38877461 T G rs12004 KDELR3 Nonsynonymous SNV V199G 0.273 0.271 0.313 103 320 104 0.264 92 37 17 15 14 28 37228 chr1 17287414 17287414 T C rs2273113 CROCC Synonymous SNV A1398A 0.284 0.25 0 139 334 96 0.356 0 118 31 0 45 11.59 37229 chr22 39069181 39069181 T C rs3747174 CBY1 Synonymous SNV A107A 0.245 0.253 0.306 97 288 97 0.249 90 33 16 15 12 0.765 37230 chr22 39134715 39134715 T C rs1062687 SUN2 Synonymous SNV Q629Q 0.276 0.286 0.316 111 324 110 0.285 93 40 19 15 17 13.01 37231 chr22 39477123 39477123 T C rs5757465 APOBEC3G Synonymous SNV F52F 0.454 0.44 0.52 198 533 169 0.508 153 123 39 39 51 0.083 37232 chr22 39496323 39496325 AAC - rs139292 APOBEC3H N15del 0.345 0.372 0.289 121 405 143 0.31 85 68 24 16 15 37233 chr1 174959108 174959108 G A rs41266060 RABGAP1L Synonymous SNV P244P 0.129 0.104 0.105 43 152 40 0.11 31 8 3 2 2 4.227 37234 chr22 39496412 39496412 G C rs139294 APOBEC3H Synonymous SNV T43T 0.467 0.505 0.412 166 548 194 0.426 121 127 47 23 36 5.931 37235 chr22 39497404 39497404 G C rs139297 APOBEC3H Nonsynonymous SNV G105R 0.47 0.5 0.408 168 552 192 0.431 120 128 45 23 36 0.002 37236 chr1 15438826 15438831 TGTGTG - rs58658629 TMEM51-AS1 0.073 0.086 0.092 29 86 33 0.074 27 37 16 13 10 37237 chr22 39497452 39497452 A G rs139298 APOBEC3H Nonsynonymous SNV K121E 0.48 0.516 0.395 172 563 198 0.441 116 132 48 24 38 0.001 37238 chr1 175046826 175046826 G A rs41266078 TNN Nonsynonymous SNV R91H 0.053 0.044 0.031 25 62 17 0.064 9 0 0 0 0 22.9 37239 chr1 155019738 155019738 T C rs139043706 DCST1 Nonsynonymous SNV I496T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.5 37240 chr22 39497454 39497454 G C rs139299 APOBEC3H Nonsynonymous SNV K121N 0.48 0.516 0.391 172 563 198 0.441 115 132 48 24 38 17.57 37241 chr1 173472465 173472465 G A rs72709309 SLC9C2 Nonsynonymous SNV A1104V 0.039 0.031 0.014 7 46 12 0.018 4 0 0 0 0 8.406 37242 chr22 39497509 39497509 A G rs139300 APOBEC3H 1 1 0.901 389 1174 384 0.997 265 587 192 132 194 0.04 37243 chr10 116050008 116050008 A G rs11196686 VWA2 Nonsynonymous SNV Q711R 0.055 0.047 0.054 19 65 18 0.049 16 3 1 1 0 22.2 37244 chr1 175092654 175092654 C T rs199534795 TNN Synonymous SNV D923D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.212 37245 chr22 39498038 39498038 G C rs139302 APOBEC3H Nonsynonymous SNV E178D 0.472 0.5 0.418 168 554 192 0.431 123 129 45 23 36 0.002 37246 chr1 173552649 173552649 A G rs757735471 SLC9C2 Synonymous SNV F212F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.76 37247 chr10 116057095 116057095 C T rs760546158 AFAP1L2 Nonsynonymous SNV V648M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 37248 chr22 39777822 39777822 - CAA rs149306472 SYNGR1 P202_T203insN 0.628 0.638 0.595 240 737 245 0.615 175 230 78 53 72 37249 chr22 40054948 40054948 T C rs5757761 CACNA1I Synonymous SNV I684I 0.577 0.589 0.517 213 677 226 0.546 152 199 59 46 57 0.291 37250 chr22 40058186 40058186 A G rs136853 CACNA1I Nonsynonymous SNV I1005V 0.556 0.576 0.551 206 653 221 0.528 162 187 55 47 55 0.003 37251 chr22 40417780 40417780 C T rs5995793 FAM83F Synonymous SNV N422N 0.267 0.273 0.293 108 314 105 0.277 86 46 16 13 15 11.13 37252 chr22 40417820 40417820 A G rs5995794 FAM83F Nonsynonymous SNV R436G 0.26 0.266 0.293 107 305 102 0.274 86 45 16 13 15 19.84 37253 chr1 159683438 159683438 C G rs1800947 CRP Synonymous SNV L184L 0.048 0.031 0.061 29 56 12 0.074 18 2 0 0 1 11.3 37254 chr1 174983862 174983862 G T rs766691887 MRPS14 Synonymous SNV V110V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.87 37255 chr1 197072420 197072420 T C rs41310925 ASPM Synonymous SNV Q1987Q 0.383 0.406 0.395 122 450 156 0.313 116 83 30 25 22 Benign 0.882 37256 chr10 116207642 116207642 C T rs34118174 ABLIM1 Nonsynonymous SNV V201I 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 9.082 37257 chr1 159799910 159799910 G A rs34687326 SLAMF8 Nonsynonymous SNV G99S 0.08 0.099 0.085 29 94 38 0.074 25 5 2 1 2 32 37258 chr22 40552119 40552119 G A rs9611280 TNRC6B Nonsynonymous SNV V16M 0.087 0.078 0.061 35 102 30 0.09 18 5 0 0 0 23.3 37259 chr1 197073932 197073932 T C rs2878749 ASPM Synonymous SNV K1483K 0.383 0.409 0.344 122 450 157 0.313 101 83 31 25 22 Benign 0.45 37260 chr10 116207687 116207687 T C rs34542287 ABLIM1 Nonsynonymous SNV K186E 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 12.68 37261 chr22 40697177 40697179 GCA - rs10617561 TNRC6B Q1218del 0.21 0.219 0.265 92 246 84 0.236 78 26 10 9 9 37262 chr1 144921877 144921877 G A rs151144469 PDE4DIP Synonymous SNV H547H 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 10.01 37263 chr22 40814500 40814500 T C rs878756 MRTFA Nonsynonymous SNV S648G 0.4 0.427 0.415 142 470 164 0.364 122 103 28 24 23 0.001 37264 chr1 159850401 159850401 C G rs7550537 CFAP45 Synonymous SNV L329L 0.072 0.086 0.082 36 85 33 0.092 24 3 1 1 2 10.57 37265 chr22 40814636 40814636 C T rs4821944 MRTFA Synonymous SNV A602A 0.176 0.18 0.18 98 207 69 0.251 53 25 10 6 17 9.104 37266 chr22 41075543 41075543 A G rs133072 MCHR1 Nonsynonymous SNV N32D 0.701 0.651 0.667 253 823 250 0.649 196 289 80 60 77 12.1 37267 chr1 155018836 155018836 G A rs148394630 DCST1 Nonsynonymous SNV V432M 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 8.467 37268 chr1 175375635 175375635 G A rs2239818 TNR Synonymous SNV N72N 0.126 0.133 0.139 47 148 51 0.121 41 6 2 4 2 10.16 37269 chr1 15987602 15987602 A G rs35549389 RSC1A1 Synonymous SNV Q413Q 0.03 0.021 0.007 8 35 8 0.021 2 0 0 0 0 2.424 37270 chr22 41075695 41075695 C T rs133073 MCHR1 Synonymous SNV N82N 0.67 0.62 0.626 247 786 238 0.633 184 262 73 52 75 15.09 37271 chr10 116602805 116602805 A G rs17092491 FAM160B1 Synonymous SNV E212E 0.057 0.036 0.051 13 67 14 0.033 15 4 0 1 1 0.633 37272 chr1 197480986 197480986 C T rs10494755 DENND1B Nonsynonymous SNV G563S 0.047 0.044 0.051 12 55 17 0.031 15 1 2 0 1 23.7 37273 chr22 41527636 41527636 G C rs752280089 EP300 Nonsynonymous SNV M509I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 37274 chr1 160001370 160001370 C G rs200507662 PIGM Nonsynonymous SNV V54L 0.006 0.016 0 8 7 6 0.021 0 0 0 0 0 25.2 37275 chr22 41605635 41605635 T C rs139437 L3MBTL2-AS1 0.361 0.385 0.391 141 424 148 0.362 115 88 31 22 24 10.52 37276 chr22 41605639 41605639 C T rs139438 L3MBTL2-AS1 0.365 0.388 0.395 142 429 149 0.364 116 88 31 22 24 12.08 37277 chr1 170993566 170993566 C G rs17346397 MROH9 Nonsynonymous SNV R647G 0.046 0.052 0.054 19 54 20 0.049 16 0 0 0 0 9.03 37278 chr22 41609859 41609859 T C rs139450 L3MBTL2-AS1 0.387 0.401 0.395 146 454 154 0.374 116 88 31 22 24 4.078 37279 chr22 41610024 41610024 G A rs139451 L3MBTL2 Synonymous SNV R130R 0.388 0.401 0.395 146 455 154 0.374 116 88 31 22 24 15.11 37280 chr1 19992513 19992513 C T rs1805054 HTR6 Synonymous SNV Y89Y 0.154 0.138 0.187 49 181 53 0.126 55 14 2 8 1 13.06 37281 chr22 41610172 41610172 G C rs139452 LOC100506544 0 0 0.395 0 0 0 0 116 0 0 22 0 2.998 37282 chr1 171080080 171080080 G A rs1736557 FMO3 Nonsynonymous SNV V194M 0.082 0.065 0.099 29 96 25 0.074 29 3 1 0 1 Benign 4.624 37283 chr22 41610242 41610242 A G rs139453 LOC100506544 0 0 0.323 0 0 0 0 95 0 0 20 0 0.32 37284 chr22 41645757 41645757 C G rs71948 RANGAP1 Synonymous SNV L516L 0.772 0.826 0.776 285 906 317 0.731 228 354 130 86 103 8.939 37285 chr1 155149718 155149718 G A rs3814316 TRIM46 Synonymous SNV T161T 0.245 0.258 0.245 116 288 99 0.297 72 35 17 7 16 13.44 37286 chr22 41652733 41652733 G A rs139509 RANGAP1 Synonymous SNV G290G 0.244 0.276 0.238 100 286 106 0.256 70 40 10 7 9 10.62 37287 chr1 20009737 20009737 G A rs10917514 TMCO4 Synonymous SNV S567S 0.159 0.141 0.17 52 187 54 0.133 50 21 1 5 1 8.907 37288 chr22 41833116 41833116 C T rs202641 TOB2 Synonymous SNV A78A 0.717 0.69 0.748 296 842 265 0.759 220 306 93 87 113 10.63 37289 chr22 42059768 42059768 G T rs132788 XRCC6 Synonymous SNV G543G 0.355 0.315 0.323 125 417 121 0.321 95 70 14 13 21 10.26 37290 chr10 118215310 118215310 - A rs145843135 PNLIPRP3 Frameshift insertion S179Vfs*37 0.063 0.078 0.058 19 74 30 0.049 17 3 3 0 1 37291 chr22 42089623 42089623 T C rs739134 C22orf46 0.733 0.708 0.759 304 861 272 0.779 223 321 96 88 119 22.6 37292 chr22 42090069 42090069 A C rs739135 C22orf46 0 0 0.755 0 0 0 0 222 0 0 90 0 1.014 37293 chr22 42159229 42159229 G T rs2050033 MEI1 Synonymous SNV S724S 0.74 0.714 0.776 308 869 274 0.79 228 327 98 90 122 12.94 37294 chr22 42271363 42271363 G A rs2229439 SREBF2 Nonsynonymous SNV R371K 0.013 0.023 0.014 2 15 9 0.005 4 1 0 0 0 Benign 22.6 37295 chr1 155261649 155261649 C T rs8177988 PKLR Nonsynonymous SNV V506I 0.017 0.013 0.014 2 20 5 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 37296 chr22 42416056 42416056 A G rs133335 WBP2NL Nonsynonymous SNV D121G 0.485 0.49 0.51 183 569 188 0.469 150 141 49 35 43 5.428 37297 chr1 171526910 171526910 G A rs12025905 PRRC2C Nonsynonymous SNV A1885T 0.095 0.102 0.085 44 111 39 0.113 25 5 3 1 2 11.01 37298 chr22 42423110 42423110 G C rs2301521 WBP2NL Nonsynonymous SNV Q285H 0.609 0.607 0.65 236 715 233 0.605 191 220 71 61 71 0.001 37299 chr22 42463814 42463814 C T rs133369 NAGA Synonymous SNV P93P 0.592 0.583 0.636 229 695 224 0.587 187 205 63 56 65 Benign 16.21 37300 chr1 171605539 171605539 A G rs61730974 MYOC Synonymous SNV Y347Y 0.048 0.068 0.031 25 56 26 0.064 9 1 0 1 0 Benign/Likely benign 0.002 37301 chr1 200635550 200635550 T C rs3795634 DDX59 Nonsynonymous SNV I107V 0.06 0.049 0.085 27 71 19 0.069 25 6 0 0 0 1.167 37302 chr22 42473603 42473603 C T rs133383 PHETA2 Synonymous SNV A102A 0.444 0.432 0.459 175 521 166 0.449 135 116 37 27 39 9.251 37303 chr22 43088971 43088971 C T rs9623659 A4GALT Synonymous SNV T329T 0.413 0.378 0.361 138 485 145 0.354 106 111 28 14 17 12.18 37304 chr1 200635560 200635560 T C rs3795633 DDX59 Synonymous SNV P103P 0.06 0.049 0.085 27 70 19 0.069 25 6 0 0 0 0.34 37305 chr22 43089055 43089055 G C rs6002904 A4GALT Synonymous SNV P301P 0.563 0.497 0.503 203 661 191 0.521 148 190 44 33 52 0.661 37306 chr10 119305202 119305202 C A rs8192642 EMX2 Synonymous SNV R156R 0.026 0.026 0.027 9 30 10 0.023 8 0 0 0 0 Benign 23 37307 chr22 43089849 43089849 T C rs11541159 A4GALT Nonsynonymous SNV M37V 0.412 0.378 0.364 139 484 145 0.356 107 110 28 14 17 0.007 37308 chr22 43558926 43558926 A G rs6971 TSPO Nonsynonymous SNV T147A 0.734 0.719 0.663 271 862 276 0.695 195 320 97 64 95 0.16 37309 chr1 146684095 146684095 T C rs58351438 FMO5 Nonsynonymous SNV K166E 0.026 0.018 0.02 13 30 7 0.033 6 0 0 1 0 Benign 24.3 37310 chr1 172558524 172558524 A G rs41264546 SUCO Synonymous SNV P198P 0.101 0.135 0.092 61 118 52 0.156 27 6 6 2 4 0.005 37311 chr22 43576904 43576904 G A rs2071723 TTLL12 Synonymous SNV H130H 0.443 0.5 0.357 182 520 192 0.467 105 117 48 20 39 2.947 37312 chr22 43606143 43606143 C T rs5759217 SCUBE1 Synonymous SNV A829A 0.693 0.714 0.69 275 814 274 0.705 203 275 97 68 100 18.62 37313 chr22 43610207 43610207 A G rs138993 SCUBE1 Nonsynonymous SNV S648P 0.738 0.747 0.738 300 866 287 0.769 217 321 106 80 118 14.13 37314 chr22 43623395 43623395 C G rs129415 SCUBE1 Nonsynonymous SNV G398R 0.75 0.711 0.748 276 881 273 0.708 220 337 97 87 103 11.25 37315 chr22 43830996 43830996 C T rs2413761 MPPED1 Synonymous SNV Y89Y 0.537 0.557 0.544 217 631 214 0.556 160 171 53 41 63 8.497 37316 chr1 156500096 156500096 T C rs115742679 IQGAP3 Nonsynonymous SNV K1402R 0.008 0.018 0.003 0 9 7 0 1 0 0 0 0 0.397 37317 chr22 43831056 43831056 C T rs4331615 MPPED1 Synonymous SNV Y109Y 0.538 0.557 0.544 217 632 214 0.556 160 171 53 41 63 11.23 37318 chr22 43870743 43870743 G A rs34665977 MPPED1 Synonymous SNV P178P 0.043 0.044 0.048 18 50 17 0.046 14 1 1 0 0 10.44 37319 chr22 43976396 43976396 G A rs9614382 EFCAB6 Nonsynonymous SNV A907V 0.781 0.758 0.752 295 917 291 0.756 221 354 109 87 116 0.015 37320 chr10 121586939 121586939 G T rs150134182 INPP5F Nonsynonymous SNV V406F 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 24.2 37321 chr1 156018299 156018299 C T rs143327773 UBQLN4 Nonsynonymous SNV R278Q 0.017 0.013 0.02 3 20 5 0.008 6 0 0 0 0 Benign 22.1 37322 chr22 44079680 44079680 G A rs137794 EFCAB6 Nonsynonymous SNV H248Y 0.101 0.128 0.085 41 119 49 0.105 25 3 2 2 3 0.008 37323 chr1 173839907 173839907 C T rs36119794 ZBTB37 Synonymous SNV L182L 0.063 0.057 0.061 27 74 22 0.069 18 3 1 1 2 8.351 37324 chr1 161069976 161069976 A C rs202014444 KLHDC9 Nonsynonymous SNV T338P 0.006 0.01 0 6 7 4 0.015 0 0 0 0 0 22.8 37325 chr22 44083442 44083442 T C rs5764214 EFCAB6 Nonsynonymous SNV T199A 0.427 0.451 0.534 179 501 173 0.459 157 94 38 47 42 0.061 37326 chr1 147380740 147380740 A G rs138140155 GJA8 Nonsynonymous SNV N220D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 24.4 37327 chr22 44112845 44112845 C T rs5764234 EFCAB6 Synonymous SNV S103S 0.733 0.75 0.765 290 861 288 0.744 225 320 112 86 109 12.54 37328 chr1 15616122 15616122 C T rs140293537 FHAD1 Synonymous SNV F176F 0.009 0.013 0.014 4 10 5 0.01 4 0 0 0 0 11.89 37329 chr22 44324727 44324727 C G rs738409 PNPLA3 Nonsynonymous SNV I148M 0.338 0.346 0.333 129 397 133 0.331 98 73 22 14 21 drug response 22.6 37330 chr1 17738666 17738666 G A RCC2 Synonymous SNV A446A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 37331 chr1 149904182 149904182 T C rs782458265 MTMR11 Synonymous SNV E270E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.184 37332 chr1 177929521 177929521 G A rs35891059 CRYZL2P-SEC16B, SEC16B Synonymous SNV S319S 0.042 0.047 0.037 19 49 18 0.049 11 1 2 0 1 9.42 37333 chr22 44324730 44324730 C T rs738408 PNPLA3 Synonymous SNV P149P 0.338 0.346 0.333 129 397 133 0.331 98 73 22 14 21 Benign 9.487 37334 chr22 44342116 44342116 A G rs2294918 PNPLA3 Nonsynonymous SNV K434E 0.595 0.604 0.619 225 699 232 0.577 182 208 69 56 69 Benign 0.002 37335 chr22 44379822 44379822 T C rs10452 SAMM50 Synonymous SNV L339L 0.556 0.568 0.582 210 653 218 0.538 171 188 65 51 63 0.027 37336 chr1 177930027 177930027 - AGGGATGTAGAACTTCATGGGTGCTTTGGGACC rs762937108 CRYZL2P-SEC16B, SEC16B P279_H280insGPKAPMKFYIP 0.042 0.047 0.037 20 49 18 0.051 11 1 2 0 1 37337 chr1 177937009 177937009 G A rs35959058 CRYZL2P-SEC16B, SEC16B Synonymous SNV V36V 0.045 0.052 0.037 20 53 20 0.051 11 1 2 0 1 3.778 37338 chr22 44379838 44379838 A G rs8418 SAMM50 Nonsynonymous SNV I345V 0.583 0.586 0.592 218 685 225 0.559 174 205 68 52 67 3.959 37339 chr1 178492447 178492447 T A rs7527160 TEX35 Synonymous SNV A207A 0.59 0.568 0.571 226 693 218 0.579 168 206 61 59 65 10.46 37340 chr1 150249004 150249004 G A rs139591160 C1orf54 Synonymous SNV P60P 0.012 0.013 0.014 10 14 5 0.026 4 0 0 0 0 7.556 37341 chr22 44395451 44395451 T C rs1007863 PARVB Nonsynonymous SNV W37R 0.468 0.484 0.476 177 549 186 0.454 140 137 41 32 43 0.001 37342 chr1 150470990 150470990 C T rs41264465 TARS2 Synonymous SNV A287A 0.02 0.01 0.014 9 24 4 0.023 4 0 0 0 0 Benign/Likely benign 17.52 37343 chr22 44489868 44489868 T C rs1983609 PARVB Nonsynonymous SNV V21A 0.726 0.714 0.755 291 852 274 0.746 222 306 94 82 107 0.007 37344 chr10 123844172 123844172 G T rs41288002 TACC2 Nonsynonymous SNV E719D 0.05 0.06 0.037 21 59 23 0.054 11 1 0 0 1 12.21 37345 chr1 178489978 178489978 T G rs3813636 TEX35 Nonsynonymous SNV L179R 0.485 0.448 0.51 196 569 172 0.503 150 134 39 36 48 23.3 37346 chr1 156252422 156252422 A G rs770858000 SMG5 Nonsynonymous SNV V17A 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 21 37347 chr22 44489896 44489896 T C rs738479 PARVB Synonymous SNV L30L 0.491 0.484 0.469 208 576 186 0.533 138 148 44 33 54 0.947 37348 chr10 123844403 123844403 C T rs74901704 TACC2 Synonymous SNV L796L 0.044 0.047 0.054 17 52 18 0.044 16 1 0 0 0 8.471 37349 chr22 44586522 44586522 C T rs2272942 PARVG Synonymous SNV V160V 0.325 0.25 0.286 101 381 96 0.259 84 65 11 14 13 12.89 37350 chr22 44594584 44594584 C G rs139152 PARVG Synonymous SNV P265P 0.396 0.341 0.378 137 465 131 0.351 111 95 26 24 24 9.657 37351 chr1 178745947 178745947 T G rs6665037 RALGPS2 Synonymous SNV T16T 0.064 0.044 0.082 24 75 17 0.062 24 3 0 0 1 10.68 37352 chr22 44602229 44602229 A C rs139186 PARVG Synonymous SNV R307R 0.853 0.833 0.833 331 1002 320 0.849 245 425 131 103 139 0.006 37353 chr22 44681612 44681612 A G rs135388 SHISAL1 Synonymous SNV L99L 0.627 0.643 0.636 257 736 247 0.659 187 237 78 58 85 0.491 37354 chr10 123976242 123976242 C T rs34944231 TACC2 Nonsynonymous SNV T560M 0.023 0.023 0.014 12 27 9 0.031 4 1 0 0 0 26.3 37355 chr22 44965320 44965320 G A rs138593 LINC00207 0 0 0.748 0 0 0 0 220 0 0 82 0 7.395 37356 chr1 17907108 17907108 T G rs35812446 ARHGEF10L Synonymous SNV P6P 0.032 0.034 0.044 14 37 13 0.036 13 1 0 1 0 7.105 37357 chr22 45075738 45075738 T C rs763213 PRR5 Nonsynonymous SNV M20T 0.612 0.578 0.595 235 718 222 0.603 175 211 65 53 66 0.016 37358 chr22 45244930 45244930 C T rs2269543 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV L289L 0.34 0.346 0.418 150 399 133 0.385 123 77 25 26 36 12.71 37359 chr1 161970046 161970046 A G rs36108216 OLFML2B Nonsynonymous SNV L270P 0.008 0.016 0.024 2 9 6 0.005 7 0 0 0 0 10.69 37360 chr22 45258457 45258457 A G rs8881 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV A428A 0.166 0.164 0.224 65 195 63 0.167 66 21 7 9 6 0.086 37361 chr1 17948389 17948389 G A rs142503205 ARHGEF10L Nonsynonymous SNV V103M 0.003 0 0 0 4 0 0 0 0 0 0 0 29.6 37362 chr22 45683246 45683246 C T rs2673088 UPK3A Synonymous SNV V134V 0.785 0.815 0.769 302 922 313 0.774 226 364 126 86 113 Benign 10.68 37363 chr22 45683304 45683304 G C rs1057353 UPK3A Nonsynonymous SNV A154P 0.802 0.831 0.799 313 942 319 0.803 235 379 132 92 123 Benign 6.996 37364 chr22 45685002 45685002 A G rs1135360 UPK3A Synonymous SNV S183S 0.388 0.346 0.391 160 456 133 0.41 115 83 22 20 29 Benign 1.186 37365 chr22 45691594 45691594 A G rs1057356 UPK3A Synonymous SNV Q165Q 0.432 0.44 0.439 172 507 169 0.441 129 115 38 29 39 Benign 0.598 37366 chr10 56106173 56106173 T C rs34164469 PCDH15 Synonymous SNV G160G 0.027 0.036 0.027 12 32 14 0.031 8 1 1 0 0 Benign/Likely benign 3.489 37367 chr22 45723807 45723807 G C rs11556482 FAM118A Nonsynonymous SNV V129L 0.342 0.346 0.398 133 402 133 0.341 117 83 27 21 29 0.022 37368 chr1 15639581 15639581 A G rs10489962 FHAD1 Nonsynonymous SNV I356M 0.031 0.018 0.037 5 36 7 0.013 11 1 0 0 0 3.92 37369 chr22 45723842 45723842 G A rs17851057 FAM118A Synonymous SNV R140R 0.342 0.346 0.398 133 401 133 0.341 117 82 27 21 29 9 37370 chr1 179544839 179544839 G C NPHS2 Nonsynonymous SNV P54R 0.003 0 0 0 3 0 0 0 0 0 0 0 2.73 37371 chr22 45723854 45723854 C G rs9615108 FAM118A Synonymous SNV V144V 0.368 0.37 0.476 142 432 142 0.364 140 88 32 32 30 10.58 37372 chr10 60562953 60562953 A C rs138916713 BICC1 Nonsynonymous SNV N711T 0.006 0.016 0.007 5 7 6 0.013 2 1 0 0 0 15.7 37373 chr22 45728370 45728370 G A rs6007594 FAM118A Nonsynonymous SNV R165H 0.358 0.346 0.388 142 420 133 0.364 114 78 23 20 26 27.1 37374 chr22 45748339 45748339 A G rs5765275 SMC1B Synonymous SNV A1139A 0.457 0.477 0.425 170 537 183 0.436 125 120 48 26 34 0.929 37375 chr22 45749983 45749983 G T rs5764698 SMC1B Nonsynonymous SNV L1050M 0.455 0.474 0.422 170 534 182 0.436 124 118 47 26 34 13.98 37376 chr1 16330816 16330816 C T rs1763617 SRARP Synonymous SNV D6D 0.158 0.146 0.139 50 186 56 0.128 41 13 2 3 4 7.573 37377 chr22 45789642 45789642 A C rs136603 SMC1B Nonsynonymous SNV F473V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.404 37378 chr1 16332571 16332571 C T rs1763612 SRARP Synonymous SNV T80T 0.078 0.06 0.082 22 92 23 0.056 24 3 0 1 0 8.92 37379 chr1 179833929 179833929 C T rs184306469 TOR1AIP2 Nonsynonymous SNV G128D 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 37380 chr22 45923827 45923827 A G rs136730 FBLN1 Nonsynonymous SNV Q141R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.721 37381 chr1 201184878 201184878 C A rs61743921 IGFN1 Nonsynonymous SNV S3069R 0.066 0.091 0.065 29 78 35 0.074 19 2 1 1 1 23.6 37382 chr22 45937149 45937149 C T rs9682 FBLN1 Synonymous SNV I321I 0.47 0.424 0.429 179 552 163 0.459 126 134 36 28 46 11.65 37383 chr22 46402714 46402714 A G rs28477160 LOC730668 0 0 0.221 0 0 0 0 65 0 0 6 0 17.13 37384 chr22 46402715 46402715 G T rs28575622 LOC730668 0 0 0.105 0 0 0 0 31 0 0 0 0 16.4 37385 chr1 16345735 16345735 C T rs1544131 HSPB7 Nonsynonymous SNV R77Q 0.079 0.063 0.082 23 93 24 0.059 24 4 1 2 0 7.178 37386 chr22 46403039 46403039 G A rs28469186 LOC730668 0 0 0.105 0 0 0 0 31 0 0 0 0 6.363 37387 chr22 46505986 46505986 T C rs2474020 MIRLET7BHG 0 0 0.983 0 0 0 0 289 0 0 144 0 2.039 37388 chr22 46615905 46615905 C T rs1800235 PPARA Synonymous SNV N235N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.3 37389 chr22 46644168 46644168 A G rs9627281 CDPF1 Nonsynonymous SNV V5A 0.221 0.229 0.19 75 259 88 0.192 56 24 7 9 6 0.002 37390 chr1 201285712 201285712 C T rs7514146 PKP1 Synonymous SNV L245L 0.103 0.133 0.122 33 121 51 0.085 36 6 3 3 3 Benign 16.06 37391 chr22 46652737 46652737 G A rs6008362 PKDREJ Synonymous SNV C2161C 0.194 0.188 0.156 62 228 72 0.159 46 20 3 8 5 5.786 37392 chr1 180010911 180010911 A G rs16855164 CEP350 Nonsynonymous SNV T1446A 0.129 0.141 0.085 39 151 54 0.1 25 12 3 0 2 1.459 37393 chr22 46652929 46652929 G A rs6008365 PKDREJ Synonymous SNV S2097S 0.194 0.188 0.156 62 228 72 0.159 46 20 3 8 5 2.733 37394 chr22 46652959 46652959 A G rs4508712 PKDREJ Synonymous SNV P2087P 0.287 0.318 0.269 101 337 122 0.259 79 53 16 12 12 0.003 37395 chr1 176833497 176833497 G C rs12118933 ASTN1 Nonsynonymous SNV R1278G 0.078 0.07 0.082 29 91 27 0.074 24 2 2 0 1 24.3 37396 chr22 46654323 46654323 G A rs6007740 PKDREJ Synonymous SNV L1633L 0.194 0.188 0.156 62 228 72 0.159 46 20 3 8 5 6.778 37397 chr22 46655948 46655948 T C rs6008384 PKDREJ Nonsynonymous SNV N1091S 0.196 0.188 0.156 62 230 72 0.159 46 20 3 8 5 0.001 37398 chr10 124758094 124758094 C G rs200964765 IKZF5 Nonsynonymous SNV Q16H 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 37399 chr22 46656246 46656246 T G rs7291444 PKDREJ Nonsynonymous SNV T992P 0.191 0.182 0.146 58 224 70 0.149 43 19 3 7 4 1.044 37400 chr1 201777663 201777663 T G rs759027874 NAV1 Synonymous SNV L927L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.08 37401 chr1 176863842 176863842 C T rs6680908 ASTN1 Synonymous SNV E932E 0.082 0.076 0.088 30 96 29 0.077 26 2 2 0 1 15.01 37402 chr22 46656479 46656479 A G rs6519993 PKDREJ Nonsynonymous SNV L914P 0.196 0.188 0.156 62 230 72 0.159 46 20 3 8 5 9.855 37403 chr22 46656511 46656511 A G rs9627324 PKDREJ Synonymous SNV I903I 0.196 0.188 0.153 62 230 72 0.159 45 20 3 8 5 0.286 37404 chr22 46656562 46656562 A G rs7287371 PKDREJ Synonymous SNV Y886Y 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 0.822 37405 chr22 46656607 46656607 G A rs8143066 PKDREJ Synonymous SNV I871I 0.196 0.188 0.156 62 230 72 0.159 46 20 3 8 5 6.393 37406 chr22 46656805 46656805 G A rs6519994 PKDREJ Synonymous SNV I805I 0.196 0.188 0.156 62 230 72 0.159 46 20 3 8 5 12.38 37407 chr22 46657261 46657261 A G rs6007747 PKDREJ Synonymous SNV D653D 0.196 0.188 0.156 62 230 72 0.159 46 20 3 8 5 0.232 37408 chr22 46657798 46657798 A G rs6007748 PKDREJ Synonymous SNV D474D 0.196 0.188 0.156 63 230 72 0.162 46 20 3 8 5 0.036 37409 chr1 156906785 156906785 C T rs529538605 ARHGEF11 Nonsynonymous SNV A1445T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 33 37410 chr22 46658719 46658719 G A rs145480472 PKDREJ Synonymous SNV A167A 0.021 0.029 0.041 5 25 11 0.013 12 4 0 1 0 13.12 37411 chr1 180905263 180905263 C T rs17302207 KIAA1614 Nonsynonymous SNV R740W 0.024 0.016 0.01 10 28 6 0.026 3 0 0 0 0 10.85 37412 chr22 46658725 46658725 G C rs137926168 PKDREJ Synonymous SNV R165R 0.015 0.021 0.034 5 18 8 0.013 10 4 0 1 0 5.306 37413 chr1 152084984 152084984 C G rs3134814 TCHH Nonsynonymous SNV V237L 0.044 0.047 0.061 22 52 18 0.056 18 0 0 1 2 8.534 37414 chr22 46664431 46664431 C G rs9627359 TTC38 Synonymous SNV L18L 0.072 0.073 0.051 17 84 28 0.044 15 4 0 2 0 13.72 37415 chr22 46677607 46677607 T C rs130642 TTC38 Nonsynonymous SNV F243L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 17.36 37416 chr22 46704243 46704243 C T rs6008598 GTSE1 Synonymous SNV F55F 0.122 0.13 0.099 46 143 50 0.118 29 7 0 1 2 14.26 37417 chr22 46704676 46704676 A G rs6008600 GTSE1 Nonsynonymous SNV T200A 0.122 0.128 0.102 46 143 49 0.118 30 7 0 1 2 0.001 37418 chr1 157062739 157062739 C G rs12136960 ETV3L Nonsynonymous SNV G263A 0.16 0.143 0.197 69 188 55 0.177 58 24 4 7 6 22.2 37419 chr22 46704687 46704687 G A rs11913324 GTSE1 Synonymous SNV P203P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.095 37420 chr22 46709881 46709881 G A rs6008622 GTSE1 Nonsynonymous SNV S341N 0.122 0.128 0.099 46 143 49 0.118 29 7 0 1 2 1.004 37421 chr22 46719100 46719100 C G rs6008684 GTSE1 Nonsynonymous SNV D482E 0.128 0.12 0.112 50 150 46 0.128 33 7 0 1 2 0.008 37422 chr1 182026813 182026813 G C rs12568050 ZNF648 Nonsynonymous SNV N111K 0.122 0.151 0.119 44 143 58 0.113 35 9 7 3 2 8.142 37423 chr22 46722400 46722400 T C rs140054 GTSE1 Nonsynonymous SNV W525R 0.931 0.94 0.908 360 1093 361 0.923 267 510 170 120 165 0.001 37424 chr1 182027022 182027022 C T rs12564283 ZNF648 Nonsynonymous SNV E42K 0.122 0.151 0.119 44 143 58 0.113 35 9 7 3 2 9.775 37425 chr22 46731689 46731689 G T rs11090865 TRMU Nonsynonymous SNV A10S 0.129 0.128 0.099 47 151 49 0.121 29 8 0 1 2 Benign 29.6 37426 chr10 69908157 69908157 T C rs11596653 MYPN Nonsynonymous SNV V393A 0.019 0.023 0.044 14 22 9 0.036 13 0 0 0 0 Benign 7.694 37427 chr22 46760086 46760086 C T rs35364389 CELSR1 Nonsynonymous SNV G2948S 0.135 0.12 0.122 57 159 46 0.146 36 7 3 1 4 14.02 37428 chr1 202287156 202287156 C T rs12123010 LGR6 Synonymous SNV S436S 0.163 0.193 0.197 45 191 74 0.115 58 15 8 5 1 10.88 37429 chr10 69909802 69909802 G A rs10997948 MYPN Synonymous SNV Q417Q 0.095 0.073 0.105 34 111 28 0.087 31 7 0 1 0 Benign 7.863 37430 chr1 167042740 167042740 G A rs187104315 GPA33 Nonsynonymous SNV P27L 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 23.5 37431 chr22 46760481 46760481 C G rs9615351 CELSR1 Nonsynonymous SNV E2903Q 0.231 0.232 0.156 84 271 89 0.215 46 27 10 8 9 0.896 37432 chr1 158261015 158261015 C T rs3138099 CD1C Synonymous SNV D51D 0.059 0.068 0.085 23 69 26 0.059 25 2 0 0 0 14.3 37433 chr1 167086718 167086718 G A rs149732757 DUSP27 Nonsynonymous SNV R120Q 0.006 0.013 0.01 7 7 5 0.018 3 0 1 0 0 31 37434 chr22 46761497 46761497 C G rs12165943 CELSR1 Nonsynonymous SNV C2797S 0.204 0.198 0.177 73 239 76 0.187 52 24 7 5 6 0.011 37435 chr1 202287754 202287754 G A rs75658797 LGR6 Nonsynonymous SNV V636M 0.162 0.185 0.197 45 190 71 0.115 58 14 7 5 1 19 37436 chr22 46763671 46763671 A G rs7285515 CELSR1 Synonymous SNV D2678D 0.103 0.115 0.133 35 121 44 0.09 39 9 1 0 1 0.607 37437 chr10 69934012 69934012 C A rs71584491 MYPN Synonymous SNV A721A 0.017 0.023 0.034 14 20 9 0.036 10 0 0 0 0 Benign 17.24 37438 chr1 158325111 158325111 T G CD1E Stop gain L27X 0.004 0.003 0 2 5 1 0.005 0 1 0 0 0 24.5 37439 chr22 46763692 46763692 C A rs11913544 CELSR1 Synonymous SNV G2671G 0 0.003 0.014 0 0 1 0 4 0 0 0 0 20.7 37440 chr1 182544581 182544581 C T rs36053738 RNASEL Synonymous SNV K724K 0.027 0.018 0.01 7 32 7 0.018 3 2 0 0 0 13.74 37441 chr22 46765134 46765134 G A rs148139314 CELSR1 Synonymous SNV L2632L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.936 37442 chr22 46780521 46780521 T C rs6007897 CELSR1 Nonsynonymous SNV T2268A 0.186 0.185 0.139 58 218 71 0.149 41 16 6 1 3 0.001 37443 chr1 202288293 202288293 C T rs56234832 LGR6 Synonymous SNV G815G 0.162 0.185 0.187 45 190 71 0.115 55 14 7 5 1 13.14 37444 chr1 202701014 202701014 G A rs374594161 KDM5B Synonymous SNV N1276N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.14 37445 chr22 46786315 46786315 T C rs4044210 CELSR1 Nonsynonymous SNV I2107V 0.19 0.188 0.146 61 223 72 0.156 43 20 6 2 3 0.005 37446 chr22 46787694 46787694 A G rs6008794 CELSR1 Nonsynonymous SNV L1995P 0.182 0.188 0.139 57 214 72 0.146 41 17 6 2 3 10.24 37447 chr22 46929669 46929669 G A rs750838463 CELSR1 Synonymous SNV D1133D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.814 37448 chr22 46929692 46929692 A G rs4823561 CELSR1 Nonsynonymous SNV C1126R 0.922 0.914 0.861 361 1083 351 0.926 253 501 161 108 169 0.154 37449 chr1 202977809 202977809 G A rs6678040 TMEM183A Nonsynonymous SNV A50T 0.144 0.13 0.116 60 169 50 0.154 34 13 4 0 5 15.48 37450 chr22 46931077 46931077 G C rs4823850 CELSR1 Nonsynonymous SNV S664W 0.921 0.919 0.847 361 1081 353 0.926 249 500 163 105 169 22.2 37451 chr1 158450238 158450238 G A rs3820678 OR10R2 Nonsynonymous SNV A191T 0.173 0.174 0.173 88 203 67 0.226 51 19 6 7 10 18.38 37452 chr10 126715744 126715744 G A rs3781407 CTBP2 Synonymous SNV D195D 0.024 0.023 0.027 6 28 9 0.015 8 1 0 0 0 0.016 37453 chr22 46931793 46931793 G C rs1009154 CELSR1 Synonymous SNV L425L 0.922 0.917 0.857 361 1082 352 0.926 252 500 162 107 169 0.083 37454 chr22 46931838 46931838 G A rs1009155 CELSR1 Synonymous SNV S410S 0.921 0.917 0.857 361 1081 352 0.926 252 500 162 107 169 0.039 37455 chr22 47058992 47058992 T C rs2542040 GRAMD4 Synonymous SNV F200F 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.106 37456 chr1 168105581 168105581 - G rs200664972 GPR161 Frameshift insertion G19Wfs*76 0.041 0.036 0.058 14 48 14 0.036 17 0 0 1 1 37457 chr1 203044777 203044777 G A rs12130501 PPFIA4 Nonsynonymous SNV G1147S 0.021 0.018 0.014 5 25 7 0.013 4 0 0 0 0 7.829 37458 chr22 47087670 47087670 G A rs36211083 CERK Synonymous SNV D377D 0.125 0.096 0.088 29 147 37 0.074 26 8 2 0 1 8.054 37459 chr22 47311404 47311404 A T rs738935 TBC1D22A-AS1 0.792 0.789 0.803 304 930 303 0.779 236 368 124 93 117 2.461 37460 chr22 47857537 47857537 T C rs130877 LINC01644 0 0 0.296 0 0 0 0 87 0 0 16 0 0.014 37461 chr1 20304962 20304962 C G rs2236771 PLA2G2A Synonymous SNV T32T 0.086 0.089 0.105 27 101 34 0.069 31 2 3 0 4 7.939 37462 chr22 47857551 47857551 T G rs130878 LINC01644 0 0 0.299 0 0 0 0 88 0 0 17 0 0.355 37463 chr1 179989584 179989584 G C rs6692219 CEP350 Nonsynonymous SNV R892T 0.085 0.081 0.061 25 100 31 0.064 18 7 1 0 1 25.3 37464 chr22 47857576 47857576 A G rs130879 LINC01644 0 0 0.296 0 0 0 0 87 0 0 16 0 0.059 37465 chr1 203143725 203143725 G C rs2642531 MYBPH Nonsynonymous SNV A114G 0.162 0.188 0.18 57 190 72 0.146 53 9 9 5 3 11.55 37466 chr22 48023241 48023241 G T rs8137874 LINC00898 0 0 0.558 0 0 0 0 164 0 0 47 0 2.156 37467 chr22 48023297 48023297 A G rs12053799 LINC00898 0 0 0.31 0 0 0 0 91 0 0 10 0 0.85 37468 chr22 48940553 48940553 T C rs4823540 LOC284933 0 0 0.718 0 0 0 0 211 0 0 75 0 0.009 37469 chr1 183542387 183542387 T C rs2274064 NCF2 Nonsynonymous SNV K136R 0.399 0.383 0.31 164 468 147 0.421 91 94 27 14 37 Benign 7.827 37470 chr22 48940644 48940644 C T rs9615919 LOC284933 0 0 0.69 0 0 0 0 203 0 0 71 0 11.8 37471 chr1 169510380 169510380 G A rs9287090 F5 Synonymous SNV L1316L 0.282 0.255 0.194 107 331 98 0.274 57 54 13 3 17 Benign/Likely benign 6.508 37472 chr22 48942566 48942566 G A rs739155 LOC284933 0 0 0.694 0 0 0 0 204 0 0 72 0 2.501 37473 chr22 50277835 50277835 T C rs910796 ZBED4 Synonymous SNV S175S 0.913 0.906 0.901 351 1072 348 0.9 265 488 158 120 158 0.045 37474 chr22 50277883 50277883 A G rs910797 ZBED4 Synonymous SNV P191P 0.914 0.906 0.901 351 1073 348 0.9 265 489 158 120 158 0.014 37475 chr22 50278438 50278438 A G rs910798 ZBED4 Synonymous SNV P376P 0.913 0.906 0.901 351 1072 348 0.9 265 488 158 120 158 0.025 37476 chr22 50278568 50278568 A G rs910799 ZBED4 Nonsynonymous SNV I420V 0.79 0.818 0.765 296 927 314 0.759 225 356 127 85 113 0.001 37477 chr1 203186950 203186950 - AGACCATGGCCCCGCCCAGTCCCT rs150192398 CHIT1 Stop gain W339_N447del 0.237 0.188 0.184 82 278 72 0.21 54 31 7 4 11 37478 chr10 129207429 129207429 C T rs2229599 DOCK1 Synonymous SNV N1417N 0.083 0.07 0.071 30 97 27 0.077 21 3 1 1 2 12.88 37479 chr22 50278642 50278642 C T rs910800 ZBED4 Synonymous SNV G444G 0.777 0.818 0.755 292 912 314 0.749 222 346 127 83 109 8.791 37480 chr1 183617266 183617266 C G rs17436878 APOBEC4 Synonymous SNV G217G 0.284 0.242 0.238 99 334 93 0.254 70 43 8 8 7 2.759 37481 chr22 50280136 50280136 T C rs5770755 ZBED4 Synonymous SNV A942A 0.779 0.823 0.752 293 914 316 0.751 221 347 129 82 110 0.005 37482 chr1 183816711 183816711 - CAGCTGCCTCCAGGACACACAGTCAGT rs756897034 RGL1 Q58_Y59insLPPGHTVSQ 0.001 0 0.003 0 1 0 0 1 0 0 0 0 37483 chr22 50354819 50354819 C A rs11541025 PIM3 Synonymous SNV A44A 0.371 0.341 0.34 133 436 131 0.341 100 85 25 21 25 14.63 37484 chr22 50356555 50356555 T C rs4078443 MIR6821 0.761 0.747 0.735 314 893 287 0.805 216 342 106 80 130 1.169 37485 chr1 180794474 180794474 A G rs35706835 XPR1 Synonymous SNV K376K 0.048 0.063 0.041 19 56 24 0.049 12 2 2 0 0 0.012 37486 chr22 50356693 50356693 T C rs4077129 PIM3 Nonsynonymous SNV V300A 0.761 0.737 0.738 314 893 283 0.805 217 344 105 80 130 0.002 37487 chr22 50435480 50435480 A G rs5771069 IL17REL Nonsynonymous SNV L333P 0.601 0.609 0.609 225 705 234 0.577 179 225 66 59 70 0.093 37488 chr1 153800774 153800774 C G rs756129266 GATAD2B Nonsynonymous SNV S17T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 15.27 37489 chr22 50468933 50468933 G T rs79298 TTLL8 Nonsynonymous SNV A726E 0.402 0.388 0.276 149 472 149 0.382 81 94 36 22 31 10.64 37490 chr1 204159612 204159612 T - rs71745629 KISS1 *139delinsWGAGAGQ* 0.227 0.237 0.163 104 266 91 0.267 48 40 17 6 12 37491 chr1 185113152 185113152 G A rs114355007 TRMT1L Nonsynonymous SNV A66V 0.007 0.003 0 0 8 1 0 0 0 0 0 0 15.4 37492 chr22 50480108 50480108 C T rs9628315 TTLL8 Nonsynonymous SNV E294K 0.353 0.365 0.35 136 414 140 0.349 103 59 32 15 21 0.358 37493 chr1 158612719 158612719 C T rs41273523 SPTA1 Nonsynonymous SNV G1497E 0.014 0.018 0.017 14 17 7 0.036 5 0 0 0 0 Conflicting interpretations of pathogenicity 9.786 37494 chr1 204159787 204159787 G C rs4889 KISS1 Nonsynonymous SNV P81R 0.289 0.299 0.269 126 339 115 0.323 79 57 23 15 19 12.39 37495 chr22 50528916 50528916 C T rs9617018 MOV10L1 Synonymous SNV L4L 0.132 0.083 0.112 50 155 32 0.128 33 10 0 3 0 5.05 37496 chr22 50530501 50530501 A T rs9617066 MOV10L1 Nonsynonymous SNV M57L 0.232 0.219 0.211 84 272 84 0.215 62 27 3 7 4 0.474 37497 chr1 185240474 185240474 A G rs12041704 SWT1 Nonsynonymous SNV N821D 0.327 0.294 0.412 129 384 113 0.331 121 95 26 22 29 23.1 37498 chr22 50546666 50546666 C T rs3810971 MOV10L1 Nonsynonymous SNV R182C 0.234 0.216 0.211 84 275 83 0.215 62 28 3 7 4 33 37499 chr1 154018824 154018824 C T NUP210L Nonsynonymous SNV V1169I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 37500 chr22 50547247 50547247 A G rs138217 MOV10L1 Synonymous SNV A239A 0.984 0.99 0.997 388 1155 380 0.995 293 568 188 146 193 0.052 37501 chr22 50555619 50555619 C T rs138222 MOV10L1 Synonymous SNV L431L 0.892 0.906 0.895 354 1047 348 0.908 263 465 156 116 162 10.49 37502 chr22 50555635 50555635 C T rs882753 MOV10L1 Synonymous SNV L437L 0.132 0.083 0.112 50 155 32 0.128 33 10 0 3 0 11.81 37503 chr1 204403659 204403659 A G rs3747636 PIK3C2B Synonymous SNV N1198N 0.238 0.229 0.265 95 279 88 0.244 78 30 9 12 10 7.274 37504 chr22 50558946 50558946 A G rs71316583 MOV10L1 Synonymous SNV Q490Q 0.09 0.06 0.088 31 106 23 0.079 26 2 0 2 0 6.275 37505 chr22 50572473 50572473 G A rs2340601 MOV10L1 Nonsynonymous SNV V650I 0.233 0.216 0.211 84 273 83 0.215 62 28 3 7 4 23.4 37506 chr1 204425028 204425028 G A rs3765156 PIK3C2B Synonymous SNV F633F 0.189 0.167 0.214 83 222 64 0.213 63 21 5 6 5 10.05 37507 chr22 50582550 50582550 C A rs2272836 MOV10L1 Synonymous SNV R795R 0.161 0.13 0.129 61 189 50 0.156 38 16 1 3 3 21.6 37508 chr22 50582626 50582626 A G rs2272837 MOV10L1 Nonsynonymous SNV Q820R 0.227 0.211 0.218 85 266 81 0.218 64 25 2 7 3 0.001 37509 chr1 181732586 181732586 C T rs115093623 CACNA1E Synonymous SNV F1559F 0.013 0.008 0.017 5 15 3 0.013 5 0 0 0 0 Benign 14.61 37510 chr22 50582630 50582630 G A rs11704548 MOV10L1 Synonymous SNV P821P 0.089 0.06 0.092 33 105 23 0.085 27 2 0 2 0 8.116 37511 chr1 15438834 15438839 TGTGTG - TMEM51-AS1 0.04 0.055 0 18 47 21 0.046 0 0 0 0 0 37512 chr22 50584201 50584201 A C rs2272838 MOV10L1 Synonymous SNV T863T 0.235 0.219 0.221 83 276 84 0.213 65 28 3 7 4 0.002 37513 chr22 50599466 50599466 C A rs2272843 MOV10L1 Nonsynonymous SNV A306E 0.135 0.089 0.112 51 158 34 0.131 33 10 0 4 0 4.271 37514 chr1 171076952 171076952 C T rs72549326 FMO3 Nonsynonymous SNV P90L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Pathogenic 27 37515 chr22 50616656 50616656 T C rs7286904 PANX2 Synonymous SNV P505P 0.526 0.474 0.493 230 617 182 0.59 145 302 88 69 112 0.002 37516 chr22 50616806 50616806 A G rs5771206 PANX2 Synonymous SNV L555L 0.506 0.521 0.517 204 594 200 0.523 152 220 77 51 71 0.002 37517 chr1 158746678 158746678 T C rs41273541 OR6N2 Nonsynonymous SNV I250V 0.049 0.047 0.099 14 58 18 0.036 29 1 1 3 1 0.008 37518 chr22 50632869 50632869 C T rs4838813 TRABD Synonymous SNV D71D 0.1 0.07 0.082 41 117 27 0.105 24 8 0 3 3 9.622 37519 chr1 204587927 204587927 C T rs115813868 LRRN2 Synonymous SNV A398A 0.009 0 0 1 10 0 0.003 0 0 0 0 0 10.05 37520 chr22 50633436 50633436 C T rs145870754 TRABD Synonymous SNV L129L 0.014 0.01 0.003 6 16 4 0.015 1 0 0 0 1 13.9 37521 chr1 158746847 158746847 A G rs16841094 OR6N2 Synonymous SNV S193S 0.076 0.083 0.116 25 89 32 0.064 34 4 1 4 5 0.029 37522 chr22 50657010 50657010 C G rs4838864 TUBGCP6 Nonsynonymous SNV V1621L 0.987 0.99 0.997 389 1159 380 0.997 293 572 188 146 194 11.92 37523 chr1 171509275 171509275 T C rs75723046 PRRC2C Synonymous SNV D888D 0.01 0.005 0.003 5 12 2 0.013 1 0 0 0 1 0.018 37524 chr1 204589101 204589101 G A rs3789044 LRRN2 Nonsynonymous SNV P7L 0.226 0.156 0.187 94 265 60 0.241 55 29 4 5 8 0.133 37525 chr22 50658424 50658424 T C rs11703226 TUBGCP6 Nonsynonymous SNV T1377A 0.442 0.448 0.405 163 519 172 0.418 119 121 38 22 34 Benign 0.002 37526 chr1 15890541 15890541 C T rs917354744 DNAJC16 Nonsynonymous SNV R174C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 37527 chr22 50660137 50660137 G A rs34455105 TUBGCP6 Nonsynonymous SNV A884V 0.107 0.07 0.075 44 126 27 0.113 22 8 1 2 3 1.141 37528 chr10 133954074 133954151 CTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGGCTTGGAGGAGGTAACGAGGGTCTCCTGCCGGGTCCTGGG - rs376494575 JAKMIP3 D416Efs*10 0.173 0.146 0.18 57 203 56 0.146 53 27 9 6 7 37529 chr22 50664612 50664612 A G rs4838865 TUBGCP6 Nonsynonymous SNV L567S 0.773 0.781 0.782 299 907 300 0.767 230 351 118 93 112 Benign 0.003 37530 chr22 50682865 50682865 G A rs5771270 TUBGCP6 Synonymous SNV F8F 0.381 0.398 0.33 151 447 153 0.387 97 83 29 16 22 Benign 16.73 37531 chr10 72468473 72468473 C T rs61749230 ADAMTS14 Nonsynonymous SNV S270L 0.004 0.013 0.007 3 5 5 0.008 2 0 0 0 0 34 37532 chr22 50688348 50688348 A G rs1555048 HDAC10 Synonymous SNV C145C 0.722 0.661 0.714 276 848 254 0.708 210 307 84 81 94 0.053 37533 chr1 171535926 171535926 A G rs114645561 PRRC2C Nonsynonymous SNV T2166A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.006 37534 chr22 50694297 50694297 A G rs1129880 MAPK12 Synonymous SNV S201S 0.716 0.654 0.704 273 840 251 0.7 207 304 83 79 92 0.913 37535 chr22 50699668 50699668 A G rs2272857 MAPK12 Synonymous SNV P61P 0.775 0.758 0.796 300 910 291 0.769 234 353 113 94 117 11.11 37536 chr1 205027390 205027390 C T rs9787172 CNTN2 Synonymous SNV N99N 0.039 0.021 0.02 9 46 8 0.023 6 1 0 0 0 Benign 12.48 37537 chr22 50704661 50704661 T C rs2076139 MAPK11 Synonymous SNV S252S 0.78 0.766 0.796 304 916 294 0.779 234 355 112 93 118 1.74 37538 chr1 205027737 205027737 G A rs2275697 CNTN2 Nonsynonymous SNV A145T 0.195 0.146 0.156 64 229 56 0.164 46 26 4 5 4 14.42 37539 chr22 50705466 50705466 A G rs760748 MAPK11 Synonymous SNV F169F 1 0.995 0.997 389 1174 382 0.997 293 587 190 146 194 0.96 37540 chr1 19202896 19202896 G A rs2230707 ALDH4A1 Synonymous SNV A357A 0.538 0.508 0.551 204 632 195 0.523 162 174 50 47 52 Benign 15.7 37541 chr1 154842200 154842202 GCT - rs58327065 KCNN3 Q80del 0.026 0.052 0 11 31 20 0.028 0 2 1 0 1 37542 chr22 50716167 50716167 G A rs1127000 PLXNB2 Synonymous SNV S1683S 0.535 0.586 0.554 212 628 225 0.544 163 175 67 42 52 2.532 37543 chr1 154842202 154842202 - GCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQ 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 37544 chr1 205027790 205027790 A C rs114050151 CNTN2 Synonymous SNV P162P 0.038 0.018 0.02 8 45 7 0.021 6 1 0 0 0 13.56 37545 chr22 50719251 50719251 A G rs11547734 PLXNB2 Synonymous SNV P1305P 0.543 0.589 0.561 216 637 226 0.554 165 180 67 44 54 1.02 37546 chr22 50720622 50720622 C T rs11547728 PLXNB2 Synonymous SNV Q1036Q 0.463 0.508 0.442 181 544 195 0.464 130 132 50 22 38 6.788 37547 chr1 1720692 1720692 T C rs760166038 GNB1 Nonsynonymous SNV N139S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 37548 chr22 50721571 50721571 C T rs529444607 PLXNB2 Synonymous SNV A908A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 37549 chr22 50722134 50722134 T C rs11547731 PLXNB2 Nonsynonymous SNV I823V 0.699 0.732 0.653 264 821 281 0.677 192 285 107 62 86 24.4 37550 chr1 205042840 205042840 G A rs17416074 CNTN2 Nonsynonymous SNV V1024I 0.052 0.029 0.02 15 61 11 0.038 6 2 0 0 0 0.001 37551 chr22 50722319 50722319 G A rs772977518 PLXNB2 Synonymous SNV C788C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 37552 chr22 50751529 50751529 G C rs67248662 DENND6B Synonymous SNV P452P 0.306 0.297 0.286 114 359 114 0.292 84 58 16 16 14 7.849 37553 chr22 50752150 50752150 C T rs68178377 DENND6B Nonsynonymous SNV V403M 0.308 0.344 0.286 123 362 132 0.315 84 50 21 15 18 13.81 37554 chr1 205052723 205052723 C T rs10494858 TMEM81 Synonymous SNV V242V 0.054 0.031 0.027 16 63 12 0.041 8 2 0 0 0 8.346 37555 chr22 50753334 50753334 G A rs73439311 DENND6B Synonymous SNV L259L 0.377 0.406 0.371 147 443 156 0.377 109 81 28 24 29 10.03 37556 chr22 50754466 50754466 C T rs62241230 DENND6B Synonymous SNV Q230Q 0.349 0.354 0.32 133 410 136 0.341 94 68 23 18 24 6.829 37557 chr1 205053150 205053150 A G rs16855059 TMEM81 Nonsynonymous SNV F100S 0.054 0.031 0.027 16 63 12 0.041 8 2 0 0 0 24.4 37558 chr22 50754648 50754648 T C rs11553141 DENND6B Synonymous SNV A198A 0.414 0.43 0.412 163 486 165 0.418 121 95 31 28 36 2.403 37559 chr1 19166829 19166829 A G rs41273167 TAS1R2 Nonsynonymous SNV I595T 0.02 0.026 0.02 10 24 10 0.026 6 0 0 0 0 19.06 37560 chr1 158908886 158908886 C T rs147827524 PYHIN1 Nonsynonymous SNV S143F 0.027 0.036 0.017 10 32 14 0.026 5 1 1 1 0 23.1 37561 chr22 50885649 50885649 A G rs141053122 SBF1 Synonymous SNV V1843V 0.003 0.013 0.01 0 3 5 0 3 0 0 0 0 Benign/Likely benign 9.711 37562 chr22 50926407 50926407 C T rs2232882 MIOX Synonymous SNV D90D 0.024 0.018 0.01 5 28 7 0.013 3 1 0 0 1 10.26 37563 chr1 19175846 19175846 T C rs28374389 TAS1R2 Nonsynonymous SNV I486V 0.138 0.146 0.16 61 162 56 0.156 47 10 3 4 4 0.017 37564 chr1 205129319 205129319 G A rs1062715 DSTYK Synonymous SNV F676F 0.2 0.206 0.197 80 235 79 0.205 58 24 8 5 8 Benign 11.39 37565 chr22 50926768 50926768 C T rs2232883 MIOX Synonymous SNV P135P 0.085 0.107 0.102 32 100 41 0.082 30 7 6 2 3 16.06 37566 chr22 50927506 50927506 G A rs745768688 MIOX Nonsynonymous SNV R149H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 37567 chr22 50941985 50941985 T C rs6009975 LMF2 Synonymous SNV Q628Q 0.887 0.896 0.905 336 1041 344 0.862 266 473 160 125 151 0.011 37568 chr1 20517865 20517865 A G rs954973625 UBXN10 Nonsynonymous SNV I271V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.2 37569 chr10 134540400 134540400 C T rs945943 INPP5A Synonymous SNV S177S 0.065 0.063 0.068 25 76 24 0.064 20 2 1 0 2 16.35 37570 chr22 50943004 50943004 C A rs762671 LMF2 Synonymous SNV L505L 0.28 0.279 0.296 100 329 107 0.256 87 54 14 12 10 16.47 37571 chr1 183947633 183947633 C A rs11579482 COLGALT2 Synonymous SNV V95V 0.026 0.029 0.037 7 30 11 0.018 11 0 0 0 0 17.87 37572 chr1 205273100 205273100 G A rs56091501 NUAK2 Synonymous SNV R455R 0.068 0.063 0.071 32 80 24 0.082 21 3 2 0 4 8.507 37573 chr22 50943010 50943010 G A rs762670 LMF2 Synonymous SNV R503R 0.284 0.281 0.299 100 334 108 0.256 88 54 14 12 10 13.33 37574 chr1 196695742 196695742 A G rs3753396 CFH Synonymous SNV Q672Q 0.118 0.128 0.163 36 139 49 0.092 48 9 5 3 1 Benign 6.781 37575 chr22 50943232 50943232 G A rs8136495 LMF2 Nonsynonymous SNV T454M 0.288 0.281 0.303 101 338 108 0.259 89 54 14 12 10 14.99 37576 chr1 196709774 196709774 G T rs1065489 CFH Nonsynonymous SNV E936D 0.124 0.128 0.167 37 145 49 0.095 49 10 5 3 1 Benign 0.18 37577 chr22 50944128 50944128 G A rs743615 LMF2 Synonymous SNV H272H 0.267 0.242 0.238 119 314 93 0.305 70 47 12 7 17 0.222 37578 chr1 159863028 159863028 C T rs41264831 CFAP45 Nonsynonymous SNV R24H 0.014 0.018 0.014 6 17 7 0.015 4 0 0 0 0 28.8 37579 chr22 50944163 50944163 G A rs128941 LMF2 Synonymous SNV L261L 0.499 0.531 0.524 195 586 204 0.5 154 151 61 40 52 4.667 37580 chr1 15911349 15911349 G A rs3737705 AGMAT Synonymous SNV D38D 0.117 0.081 0.218 51 137 31 0.131 64 35 6 10 10 8.391 37581 chr22 50945256 50945256 A G rs131824 LMF2 Synonymous SNV P76P 0.399 0.398 0.361 141 469 153 0.362 106 98 27 19 23 0.04 37582 chr1 196967354 196967354 G A rs35662416 CFHR5 Nonsynonymous SNV R356H 0.027 0.01 0.024 6 32 4 0.015 7 2 0 0 0 Likely benign 5.697 37583 chr1 205589574 205589574 C T rs1064406 ELK4 Synonymous SNV P200P 0.105 0.091 0.048 39 123 35 0.1 14 9 2 0 4 11.57 37584 chr22 50962208 50962208 T G rs12148 SCO2 Synonymous SNV A211A 0.618 0.591 0.66 251 725 227 0.644 194 227 72 63 81 Benign 0.414 37585 chr22 50962782 50962782 C G rs140523 SCO2 Nonsynonymous SNV R20P 0.618 0.591 0.66 251 725 227 0.644 194 227 72 63 81 Benign 4.154 37586 chr1 173808677 173808677 G A rs141298312 DARS2 Nonsynonymous SNV G338E 0.055 0.021 0.071 15 64 8 0.038 21 2 0 0 0 Benign 21.4 37587 chr22 50964446 50964446 A T rs1138404 TYMP Synonymous SNV G428G 0.081 0.089 0.112 36 95 34 0.092 33 5 3 3 1 Benign 0.163 37588 chr22 50964862 50964862 G A rs131804 TYMP Synonymous SNV A324A 0.535 0.516 0.551 217 628 198 0.556 162 176 57 52 63 Benign 4.264 37589 chr1 206327510 206327510 T C rs61742539 CTSE Synonymous SNV F158F 0.187 0.172 0.187 52 220 66 0.133 55 25 9 7 5 6.327 37590 chr22 50988062 50988062 G T rs140519 KLHDC7B Synonymous SNV V1130V 0.41 0.385 0.395 138 481 148 0.354 116 101 37 28 24 0.389 37591 chr1 160099904 160099904 G A rs142348542 ATP1A2 Nonsynonymous SNV E492K 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 37592 chr1 206328803 206328803 T C rs41302235 CTSE Synonymous SNV P290P 0.198 0.169 0.211 59 232 65 0.151 62 28 8 7 8 6.54 37593 chr22 50988193 50988193 A G rs131779 KLHDC7B Nonsynonymous SNV H1174R 0.63 0.57 0.551 212 740 219 0.544 162 237 62 51 54 0.001 37594 chr1 20640906 20640906 C T rs61741263 VWA5B1 Synonymous SNV F128F 0.033 0.036 0.051 12 39 14 0.031 15 0 0 1 1 11.75 37595 chr22 51009953 51009953 C T rs470117 CPT1B Nonsynonymous SNV E497K 0.396 0.365 0.391 131 465 140 0.336 115 104 33 27 18 24.1 37596 chr1 155449342 155449342 T C rs140137038 ASH1L Nonsynonymous SNV I1107V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.632 37597 chr22 51064039 51064039 G C rs743616 ARSA Nonsynonymous SNV T393S 0.466 0.453 0.452 160 547 174 0.41 133 119 40 30 35 Benign 7.551 37598 chr22 51117580 51117580 T C rs9616915 SHANK3 Nonsynonymous SNV I320T 0.521 0.573 0.588 192 612 220 0.492 173 158 64 53 48 Benign 11.37 37599 chr22 51153371 51153371 G A rs61729471 SHANK3 Nonsynonymous SNV A707T 0.021 0.008 0.027 13 25 3 0.033 8 0 0 0 0 Benign 23.8 37600 chr1 175067580 175067580 T C rs61747978 TNN Synonymous SNV S656S 0.049 0.039 0.044 14 57 15 0.036 13 1 0 0 1 0.072 37601 chr1 160160671 160160671 G A rs140253806 CASQ1 Nonsynonymous SNV D44N 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 29.3 37602 chr2 100019496 100019496 A G rs2305354 REV1 Synonymous SNV I1079I 0.525 0.547 0.466 220 616 210 0.564 137 161 57 30 61 1.464 37603 chr2 100055158 100055158 T C rs3087399 REV1 Nonsynonymous SNV N373S 0.066 0.07 0.037 22 77 27 0.056 11 1 1 1 1 3.016 37604 chr1 206669465 206669465 C T rs3748022 IKBKE Nonsynonymous SNV P628L 0.195 0.201 0.197 89 229 77 0.228 58 23 9 4 7 16.67 37605 chr2 100055506 100055506 A G rs3087386 REV1 Nonsynonymous SNV F257S 0.525 0.534 0.469 220 616 205 0.564 138 164 55 30 61 0.002 37606 chr10 74660199 74660199 C T rs142263386 OIT3 Synonymous SNV C167C 0.018 0.026 0 10 21 10 0.026 0 0 0 0 0 13.6 37607 chr10 74894375 74894375 T C rs2271904 ECD Nonsynonymous SNV D591G 0.046 0.057 0.058 21 54 22 0.054 17 2 1 1 1 29 37608 chr10 74916173 74916173 T A rs12241093 ECD Synonymous SNV A150A 0.052 0.063 0.058 21 61 24 0.054 17 2 1 1 1 9.643 37609 chr1 206776460 206776460 G A rs35252702 EIF2D Nonsynonymous SNV T210I 0.019 0.01 0.014 5 22 4 0.013 4 0 0 0 0 7.202 37610 chr2 10059844 10059844 C T rs16867245 TAF1B Nonsynonymous SNV T232M 0.095 0.099 0.092 34 112 38 0.087 27 9 0 2 3 25.8 37611 chr1 20678551 20678551 A G rs230182 VWA5B1 Synonymous SNV L1009L 0.026 0.044 0.034 11 30 17 0.028 10 0 0 0 0 6.094 37612 chr1 160318835 160318835 G A rs34445546 NCSTN Synonymous SNV E79E 0.014 0.023 0 8 17 9 0.021 0 0 0 0 0 Benign 6.26 37613 chr10 75000739 75000739 G A rs12573841 FAM149B1 Nonsynonymous SNV G571R 0.048 0.063 0.048 22 56 24 0.056 14 1 0 1 1 17.87 37614 chr2 100623130 100623130 G A rs34506074 AFF3 Synonymous SNV A304A 0.02 0.031 0.027 14 24 12 0.036 8 0 0 0 1 8.782 37615 chr10 75013884 75013885 CT - rs3830554 DNAJC9-AS1 0.052 0.068 0.048 21 61 26 0.054 14 2 1 1 1 37616 chr10 75056863 75056863 A C rs6480692 CFAP70 Synonymous SNV L405L 0.052 0.068 0.054 22 61 26 0.056 16 2 1 1 1 0.995 37617 chr10 75095253 75095253 G A rs7910541 CFAP70 Synonymous SNV C82C 0.051 0.068 0.054 22 60 26 0.056 16 2 1 1 1 9.759 37618 chr10 75148116 75148116 A G rs2234965 ANXA7 Synonymous SNV D124D 0.048 0.068 0.051 22 56 26 0.056 15 1 1 1 1 8.984 37619 chr1 200978027 200978027 G A rs140589352 KIF21B Nonsynonymous SNV S106L 0.026 0.023 0.014 9 30 9 0.023 4 0 0 0 0 14.92 37620 chr1 160970553 160970553 G A rs746724090 F11R Nonsynonymous SNV R86W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 37621 chr10 75391823 75391823 C A rs41280400 MYOZ1 Synonymous SNV L255L 0.025 0.039 0.024 13 29 15 0.033 7 1 0 1 0 13.62 37622 chr1 161011924 161011924 G T rs151164868 USF1 Synonymous SNV A86A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.96 37623 chr1 197071035 197071035 T C rs373426629 ASPM Nonsynonymous SNV H2449R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.802 37624 chr1 197071944 197071944 A G rs370777012 ASPM Nonsynonymous SNV I2146T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.4 37625 chr1 207238419 207238419 C T rs72741390 PFKFB2 Synonymous SNV N182N 0.202 0.214 0.262 95 237 82 0.244 77 17 11 11 12 13.53 37626 chr1 161017761 161017761 C T rs112388093 ARHGAP30 Nonsynonymous SNV R840Q 0.014 0.013 0.014 7 17 5 0.018 4 0 0 0 0 32 37627 chr1 161069544 161069544 G A rs1128750 KLHDC9 Nonsynonymous SNV S288N 0.083 0.055 0.054 21 98 21 0.054 16 2 1 0 1 18.05 37628 chr1 161123804 161123804 C T rs200442918 UFC1 Nonsynonymous SNV T6M 0.015 0.013 0 4 18 5 0.01 0 0 0 0 0 32 37629 chr1 161168189 161168189 C T rs34448954 ADAMTS4 Nonsynonymous SNV A77T 0.102 0.148 0.082 43 120 57 0.11 24 7 5 1 1 5.786 37630 chr1 197298095 197298095 T C rs62645749 CRB1 Nonsynonymous SNV I205T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.9 37631 chr2 101644784 101644784 A G TBC1D8 Nonsynonymous SNV L763P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 37632 chr1 161182208 161182208 C G rs11576415 NDUFS2 Nonsynonymous SNV P352A 0.102 0.143 0.078 40 120 55 0.103 23 7 4 1 1 Likely benign 27.9 37633 chr1 19200988 19200988 G A rs61749348 ALDH4A1 Synonymous SNV G465G 0.048 0.057 0.048 16 56 22 0.041 14 2 0 0 1 Benign/Likely benign 12.84 37634 chr1 161172234 161172234 C T rs780630195 NDUFS2 Nonsynonymous SNV P20L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.4 37635 chr1 19201919 19201919 T C rs6695033 ALDH4A1 Nonsynonymous SNV T422A 0.048 0.06 0.048 16 56 23 0.041 14 2 0 0 1 Benign/Likely benign 24.1 37636 chr10 75566540 75566540 T C rs148558119 NDST2 Nonsynonymous SNV M375V 0.014 0.026 0 6 17 10 0.015 0 0 0 0 0 9.33 37637 chr1 161197446 161197446 G A rs149130262 TOMM40L Synonymous SNV G99G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.998 37638 chr1 19775375 19775375 G A rs79308175 CAPZB Nonsynonymous SNV R12C 0.035 0.029 0.031 10 41 11 0.026 9 1 1 0 0 6.849 37639 chr1 161336289 161336289 A G rs78888650 CFAP126 Synonymous SNV Y10Y 0.013 0.008 0.003 7 15 3 0.018 1 0 0 0 0 9.75 37640 chr1 201176651 201176651 C T rs11804558 IGFN1 Nonsynonymous SNV T877M 0.041 0.034 0.041 15 48 13 0.038 12 0 0 1 1 0.098 37641 chr2 10186419 10186419 A G rs35927125 KLF11 Nonsynonymous SNV Q45R 0.204 0.172 0.17 76 239 66 0.195 50 28 8 2 12 Benign/Likely benign 7.911 37642 chr1 207760773 207760773 C T rs3737002 CR1 Nonsynonymous SNV T1408M 0.194 0.198 0.207 59 228 76 0.151 61 21 5 5 5 19.52 37643 chr1 1991014 1991014 A G rs1878745 PRKCZ Synonymous SNV P106P 0.253 0.234 0.194 82 297 90 0.21 57 37 14 5 7 1.612 37644 chr1 161748056 161748056 C T rs2070151 ATF6 Synonymous SNV L35L 0.084 0.063 0.082 28 99 24 0.072 24 4 1 0 0 16.11 37645 chr1 20009790 20009790 C T rs41312012 TMCO4 Nonsynonymous SNV A550T 0.026 0.023 0.02 12 30 9 0.031 6 0 0 0 0 0.029 37646 chr1 19203725 19203725 A G rs41273175 ALDH4A1 Nonsynonymous SNV F328L 0.041 0.047 0.044 12 48 18 0.031 13 1 0 0 0 Conflicting interpretations of pathogenicity 22.1 37647 chr1 161753802 161753802 T C rs2271013 ATF6 Synonymous SNV P90P 0.081 0.063 0.082 22 95 24 0.056 24 4 1 0 0 5.532 37648 chr1 161753841 161753841 G A rs2271012 ATF6 Synonymous SNV S103S 0.082 0.063 0.082 22 96 24 0.056 24 4 1 0 0 14.01 37649 chr1 20829761 20829761 A C rs150868809 MUL1 Nonsynonymous SNV I54M 0.02 0.016 0.01 10 24 6 0.026 3 0 0 0 1 11.56 37650 chr1 161761276 161761276 G C rs2070150 ATF6 Nonsynonymous SNV A145P 0.08 0.06 0.082 22 94 23 0.056 24 4 1 0 0 10.18 37651 chr1 161761312 161761312 C T rs1135983 ATF6 Nonsynonymous SNV P157S 0.078 0.057 0.082 22 92 22 0.056 24 4 1 0 0 12 37652 chr1 16235894 16235894 C T rs373002389 SPEN Synonymous SNV S320S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.85 37653 chr1 162335256 162335256 C T rs348624 NOS1AP Synonymous SNV R39R 0.119 0.151 0.17 59 140 58 0.151 50 5 4 6 6 19.91 37654 chr1 20972111 20972111 G A rs3738136 PINK1 Nonsynonymous SNV A340T 0.034 0.039 0.02 12 40 15 0.031 6 0 0 0 0 Benign 6.083 37655 chr1 162344069 162344069 G A rs13823 SPATA46 Synonymous SNV C185C 0.077 0.089 0.095 32 90 34 0.082 28 3 1 2 2 0.738 37656 chr1 201181994 201181994 A G rs6688782 IGFN1 Nonsynonymous SNV D2658G 0.039 0.031 0.041 14 46 12 0.036 12 0 0 1 1 12.47 37657 chr10 79800374 79800374 C T rs114512325 RPS24 Nonsynonymous SNV P131L 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign 10.11 37658 chr2 103095404 103095404 G A rs11692304 SLC9A4 Synonymous SNV S121S 0.493 0.495 0.49 175 579 190 0.449 144 134 47 33 38 11.19 37659 chr10 79814609 79814609 C T rs143953715 RPS24 Synonymous SNV D237D 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 9.75 37660 chr1 16456763 16456763 C T rs35903225 EPHA2 Nonsynonymous SNV R822H 0.031 0.029 0.024 10 36 11 0.026 7 0 0 0 0 Benign 35 37661 chr10 79814747 79814747 C T rs76653255 RPS24 Synonymous SNV C283C 0.003 0.01 0.014 1 3 4 0.003 4 0 0 0 0 3.571 37662 chr1 20141528 20141528 C T rs1541185 RNF186 Nonsynonymous SNV A23T 0.23 0.211 0.153 73 270 81 0.187 45 23 7 4 2 15.54 37663 chr1 201058513 201058513 C T rs35534614 CACNA1S Nonsynonymous SNV G258D 0.013 0.008 0.003 3 15 3 0.008 1 0 0 0 0 Benign/Likely benign 23.2 37664 chr10 81373542 81373542 C T rs3997777 SFTPA1 Synonymous SNV S140S 0.04 0.036 0 18 47 14 0.046 0 0 0 0 0 Likely benign 3.703 37665 chr1 156848918 156848918 C T rs6336 NTRK1 Nonsynonymous SNV H598Y 0.058 0.065 0.034 32 68 25 0.082 10 1 0 0 2 Benign/Likely benign 27.8 37666 chr10 81373777 81373777 C T rs4253527 SFTPA1 Nonsynonymous SNV R219W 0.101 0.125 0.075 35 118 48 0.09 22 4 5 0 2 Benign 13.59 37667 chr1 16332679 16332679 T C rs3738646 SRARP Synonymous SNV S116S 0.065 0.089 0.054 26 76 34 0.067 16 3 2 1 0 0.548 37668 chr1 198222215 198222215 C G rs55833332 NEK7 Nonsynonymous SNV R35G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 37669 chr1 209933540 209933540 A G rs2076150 TRAF3IP3 Synonymous SNV Q52Q 0.181 0.148 0.211 79 212 57 0.203 62 11 4 5 3 4.571 37670 chr1 156848946 156848946 G T rs6339 NTRK1 Nonsynonymous SNV G607V 0.058 0.065 0.037 32 68 25 0.082 11 1 0 0 2 Benign/Likely benign 22 37671 chr2 107423188 107423188 G A rs1470591 ST6GAL2 Synonymous SNV P512P 0.48 0.487 0.408 167 564 187 0.428 120 139 50 27 42 0.123 37672 chr2 107423395 107423395 T G rs1470590 ST6GAL2 Synonymous SNV I443I 0.606 0.62 0.541 223 711 238 0.572 159 211 77 42 68 10.78 37673 chr2 108938735 108938735 A G rs12477830 SULT1C2P1 0 0 0.129 0 0 0 0 38 0 0 4 0 1.458 37674 chr2 108968944 108968944 - A rs34518846 SULT1C2P1 0 0 0.194 0 0 0 0 57 0 0 6 0 37675 chr10 81838656 81838656 A C rs3824727 TMEM254-AS1 0.164 0.138 0.156 59 192 53 0.151 46 13 3 5 2 4.667 37676 chr1 180064828 180064828 C T rs149481021 CEP350 Synonymous SNV T2894T 0.016 0.008 0 2 19 3 0.005 0 0 0 0 0 10.04 37677 chr11 294581 294581 G A rs543665030 PGGHG Synonymous SNV S682S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 7.784 37678 chr1 2117558 2117558 C T rs3123595 FAAP20 Synonymous SNV A31A 0.11 0.063 0.095 34 129 24 0.087 28 11 2 1 1 4.803 37679 chr1 165218792 165218792 G A rs10753668 LMX1A Synonymous SNV L117L 0.165 0.167 0.153 72 194 64 0.185 45 18 2 4 7 10.24 37680 chr1 180165608 180165608 C T rs61738533 QSOX1 Synonymous SNV A560A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.28 37681 chr1 200776641 200776641 C T rs7552353 CAMSAP2 Synonymous SNV D179D 0.09 0.13 0.082 40 106 50 0.103 24 7 5 3 4 17.29 37682 chr1 16731487 16731487 G A rs373558720 SPATA21 Synonymous SNV D239D 0.003 0 0 0 4 0 0 0 0 0 0 0 12.56 37683 chr1 200867552 200867552 C T rs2271017 INAVA Synonymous SNV S8S 0.052 0.049 0.027 17 61 19 0.044 8 1 1 0 1 18.93 37684 chr1 211846979 211846979 C T rs146297864 NEK2 Nonsynonymous SNV G134D 0.009 0 0.01 1 10 0 0.003 3 2 0 0 0 23.1 37685 chr10 82126600 82126600 G A rs1047951 DYDC2 Nonsynonymous SNV G143S 0.055 0.055 0.061 19 65 21 0.049 18 0 0 1 0 1.84 37686 chr1 201177823 201177823 C A IGFN1 Nonsynonymous SNV P1268T 0.007 0.005 0 0 8 2 0 0 0 0 0 0 4.57 37687 chr1 20097822 20097822 G A rs11551819 TMCO4 Synonymous SNV D111D 0.112 0.125 0.122 34 132 48 0.087 36 8 2 3 1 3.872 37688 chr10 82276061 82276061 C T rs72821609 TSPAN14 Synonymous SNV I118I 0.06 0.047 0.051 18 70 18 0.046 15 0 0 0 0 14.2 37689 chr1 15768997 15768997 C T rs41307798 CTRC Synonymous SNV D95D 0.048 0.055 0.031 24 56 21 0.062 9 1 0 0 0 Benign 9.285 37690 chr1 201178667 201178667 C G rs199718718 IGFN1 Nonsynonymous SNV T1549R 0.019 0.016 0.01 5 22 6 0.013 3 0 0 0 0 0.023 37691 chr2 109745176 109745176 G A rs11681142 SH3RF3-AS1 0 0 0.956 0 0 0 0 281 0 0 140 0 21.2 37692 chr2 109745453 109745453 C T rs35974095 SH3RF3-AS1 0 0 0.037 0 0 0 0 11 0 0 0 0 16.03 37693 chr1 201009075 201009075 G C rs926000507 CACNA1S Nonsynonymous SNV R1836G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.2 37694 chr1 201178680 201178680 A G rs777956946 IGFN1 Synonymous SNV G1553G 0.047 0.044 0.037 19 55 17 0.049 11 0 0 0 0 0.057 37695 chr2 109745783 109745801 GGCCGGTCCCCGCCACGCA - rs200435574 SH3RF3-AS1 0.017 0 0.956 0 20 0 0 281 10 0 140 0 37696 chr1 201178788 201178788 A G rs66922684 IGFN1 Synonymous SNV G1589G 0.032 0.034 0.017 14 38 13 0.036 5 0 0 0 0 1.734 37697 chr1 2125172 2125172 G A rs1058411 FAAP20 Nonsynonymous SNV P126S 0.112 0.07 0.099 34 131 27 0.087 29 12 2 1 1 0.021 37698 chr2 109745929 109745929 C G rs1367274 SH3RF3-AS1 0.014 0.018 0.102 7 16 7 0.018 30 2 1 2 0 8.775 37699 chr2 110303072 110303072 C T rs72824784 SEPTIN10 Nonsynonymous SNV C466Y 0.029 0.016 0.034 5 34 6 0.013 10 1 0 0 0 5.805 37700 chr1 212587415 212587415 C T PACC1 Nonsynonymous SNV R15H 0.008 0 0 0 9 0 0 0 2 0 0 0 12.26 37701 chr1 15832536 15832536 G A rs771666561 CASP9 Synonymous SNV D223D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.17 37702 chr2 111562875 111562875 C T rs77331476 ACOXL Nonsynonymous SNV S219L 0.021 0.018 0.034 7 25 7 0.018 10 2 0 0 0 26 37703 chr1 201180140 201180140 C T rs58792551 IGFN1 Nonsynonymous SNV A2040V 0.038 0.049 0.027 12 45 19 0.031 8 0 0 0 0 0.003 37704 chr1 168683476 168683476 C T rs35449613 DPT Synonymous SNV R138R 0.051 0.049 0.051 28 60 19 0.072 15 3 1 0 1 13.96 37705 chr1 158368315 158368315 G A rs60530245 OR10T2 Synonymous SNV S314S 0.085 0.099 0.099 35 100 38 0.09 29 3 1 2 0 8.058 37706 chr2 11264830 11264830 G A rs7560331 FLJ33534 0 0 0.69 0 0 0 0 203 0 0 71 0 0.353 37707 chr1 167096751 167096751 A G rs751440284 DUSP27 Nonsynonymous SNV M795V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 37708 chr1 181687234 181687234 G A rs144517660 CACNA1E Nonsynonymous SNV M523I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.5 37709 chr1 203690537 203690537 G A rs61731213 ATP2B4 Synonymous SNV A937A 0.033 0.042 0.017 5 39 16 0.013 5 0 0 0 0 11.28 37710 chr1 167339448 167339448 A G rs41270710 POU2F1 Synonymous SNV V82V 0.008 0.018 0 8 9 7 0.021 0 0 0 0 1 Benign 10.52 37711 chr1 204197220 204197220 T G rs138032109 PLEKHA6 Nonsynonymous SNV M1008L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.97 37712 chr1 182443014 182443014 G C rs647224 RGSL1 Nonsynonymous SNV W256C 0.058 0.039 0.061 19 68 15 0.049 18 5 1 0 0 27.7 37713 chr1 167734923 167734923 G A rs150711804 MPZL1 Synonymous SNV T65T 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 Benign 0.999 37714 chr1 215342615 215342615 C T rs41283140 KCNK2 Synonymous SNV P179P 0.01 0.008 0.01 2 12 3 0.005 3 0 0 0 0 15.08 37715 chr1 204379452 204379452 T C rs2089891 PPP1R15B Nonsynonymous SNV E363G 0.04 0.018 0.027 15 47 7 0.038 8 3 0 0 0 4.032 37716 chr1 201178788 201178788 - GGTTCTGGAGAAATGGGGTCAGTGAATGAAACAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAATAGGTTCAGGGAGTAAGGCAGGTTTTAGGGATGGTTTAGGG IGFN1 E1599_A1600insTGYRKDLGVPEGIGSGSKAGFRDGLGGSGEMGSVNE 0.072 0.068 0.024 14 85 26 0.036 7 0 0 1 0 37717 chr11 608750 608750 C T rs753520297 PHRF1 Synonymous SNV S1098S 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 6.163 37718 chr1 204396830 204396830 G A rs17334387 PIK3C2B Synonymous SNV S1511S 0.067 0.057 0.061 23 79 22 0.059 18 5 1 1 0 8.24 37719 chr1 204399061 204399061 A G rs2271419 PIK3C2B Synonymous SNV P1462P 0.067 0.057 0.058 23 79 22 0.059 17 5 1 1 0 4.638 37720 chr1 204399064 204399064 G A rs2271420 PIK3C2B Synonymous SNV P1461P 0.067 0.057 0.058 23 79 22 0.059 17 5 1 1 0 11.7 37721 chr2 11375936 11375936 T A rs984520078 ROCK2 Synonymous SNV I119I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 8.564 37722 chr1 204423811 204423811 G A rs61762608 PIK3C2B Synonymous SNV I684I 0.032 0.034 0.01 16 37 13 0.041 3 1 0 0 1 18.11 37723 chr1 169695870 169695870 G A rs5355 SELE Nonsynonymous SNV L575F 0.048 0.065 0.061 21 56 25 0.054 18 3 2 1 0 16.17 37724 chr10 90574957 90574957 G C rs61740492 LIPM Nonsynonymous SNV L229F 0.034 0.031 0.031 5 40 12 0.013 9 1 0 0 0 11.43 37725 chr11 621242 621242 C T rs112269777 CDHR5 Synonymous SNV P209P 0.077 0.068 0.068 28 90 26 0.072 20 4 0 1 1 10.47 37726 chr2 114017029 114017029 A G rs6734610 PAX8-AS1 0 0 0.425 0 0 0 0 125 0 0 25 0 0.705 37727 chr2 114020911 114020911 C G rs7585510 PAX8-AS1 0 0 0.116 0 0 0 0 34 0 0 2 0 5.535 37728 chr2 114709419 114709419 G A rs34493552 ACTR3 Synonymous SNV L307L 0.036 0.031 0.034 16 42 12 0.041 10 0 0 1 1 11.89 37729 chr1 201355669 201355669 T C rs68021059 LAD1 Nonsynonymous SNV T274A 0.095 0.083 0.102 30 112 32 0.077 30 11 3 2 0 0.001 37730 chr11 640502 640502 T C DRD4 Nonsynonymous SNV W387R 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 27.8 37731 chr10 90966393 90966393 G A rs17382301 CH25H Synonymous SNV N219N 0.086 0.094 0.099 30 101 36 0.077 29 4 2 1 3 10.8 37732 chr1 20141405 20141405 C T rs41264113 RNF186 Nonsynonymous SNV A64T 0.021 0.018 0.031 4 25 7 0.01 9 0 1 0 0 30 37733 chr1 158612756 158612756 G A rs34973695 SPTA1 Nonsynonymous SNV L1485F 0.028 0.049 0.02 10 33 19 0.026 6 0 0 0 0 Conflicting interpretations of pathogenicity 32 37734 chr1 1847979 1847979 T C rs28581776 CALML6 Nonsynonymous SNV W43R 0.056 0.063 0.078 30 66 24 0.077 23 0 0 0 3 6.495 37735 chr11 721931 721931 C T rs7949926 EPS8L2 Synonymous SNV P308P 0.078 0.112 0.068 32 92 43 0.082 20 3 0 2 1 17.29 37736 chr11 722709 722709 C T rs10902205 EPS8L2 Synonymous SNV Y415Y 0.072 0.109 0.068 32 84 42 0.082 20 3 0 1 1 10.94 37737 chr10 91099254 91099254 T C rs768315767 IFIT3 Nonsynonymous SNV I281T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.9 37738 chr11 792692 792692 G C rs111277421 SLC25A22 Nonsynonymous SNV L150V 0.055 0.083 0.048 21 64 32 0.054 14 1 0 0 0 Benign 2.238 37739 chr1 170927615 170927615 A G rs17563089 MROH9 Nonsynonymous SNV N29S 0.141 0.107 0.092 47 165 41 0.121 27 11 3 1 4 0.001 37740 chr11 797834 797834 C A rs112750986 PANO1 Nonsynonymous SNV A70D 0.049 0.07 0.048 16 57 27 0.041 14 1 0 0 0 6.632 37741 chr1 1849530 1849530 T C rs4459050 TMEM52 Nonsynonymous SNV M141V 0.057 0.063 0.068 30 67 24 0.077 20 0 0 0 3 0.006 37742 chr1 201777568 201777568 C G rs2292822 NAV1 Nonsynonymous SNV H896D 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 16.54 37743 chr11 812577 812577 C A RPLP2 Nonsynonymous SNV A72D 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 24.4 37744 chr1 1849744 1849744 G A rs1884455 TMEM52 Synonymous SNV D99D 0.057 0.063 0.071 30 67 24 0.077 21 0 0 0 3 6.413 37745 chr1 158687896 158687896 C T rs857705 OR6K3 Nonsynonymous SNV G4R 0.182 0.156 0.252 60 214 60 0.154 74 18 6 8 3 0.138 37746 chr10 91359116 91359116 C T rs11592870 PANK1 Synonymous SNV P176P 0.024 0.021 0.027 15 28 8 0.038 8 0 0 0 0 17.94 37747 chr1 158725490 158725490 G A rs78251441 OR6K6 Synonymous SNV V295V 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 7.12 37748 chr1 205238275 205238275 A G rs1768586 TMCC2 Synonymous SNV A90A 0.268 0.258 0.306 110 315 99 0.282 90 39 15 10 19 0.003 37749 chr1 205238530 205238530 C T rs1779411 TMCC2 Synonymous SNV G175G 0.268 0.258 0.303 110 315 99 0.282 89 39 15 10 19 13.62 37750 chr2 118583100 118583100 G A rs1052639 DDX18 Synonymous SNV T482T 0.111 0.094 0.071 38 130 36 0.097 21 3 1 0 3 10.27 37751 chr1 205240251 205240251 C T rs1668867 TMCC2 Synonymous SNV Y337Y 0.27 0.258 0.31 110 317 99 0.282 91 39 15 10 19 11.64 37752 chr2 118732831 118732831 G A rs17512204 CCDC93 Nonsynonymous SNV P228L 0.108 0.099 0.075 36 127 38 0.092 22 6 1 0 4 10.95 37753 chr1 220267581 220267581 G T rs149324758 IARS2 Nonsynonymous SNV R8L 0.043 0.039 0.031 11 50 15 0.028 9 2 0 0 1 Benign 11.2 37754 chr2 11943082 11943082 C T rs4669781 LPIN1 Nonsynonymous SNV P610S 0.044 0.044 0.037 15 52 17 0.038 11 1 1 0 0 Benign 13.27 37755 chr1 1854546 1854546 C T rs28633659 CFAP74 Nonsynonymous SNV E1521K 0.056 0.06 0.058 30 66 23 0.077 17 1 0 0 3 12.83 37756 chr1 205308347 205308347 C A rs1105386 KLHDC8A Synonymous SNV T244T 0.049 0.034 0.034 20 58 13 0.051 10 1 0 0 0 17.19 37757 chr1 1855319 1855319 C T rs2295362 CFAP74 Synonymous SNV K1428K 0.057 0.063 0.071 31 67 24 0.079 21 1 0 0 3 10.09 37758 chr1 1858161 1858161 C T rs78807865 CFAP74 Synonymous SNV T1234T 0.057 0.063 0.071 30 67 24 0.077 21 1 0 0 3 9.942 37759 chr1 1859176 1859176 T C rs45489198 CFAP74 Nonsynonymous SNV N1133D 0.057 0.063 0.071 30 67 24 0.077 21 1 0 0 3 0.108 37760 chr2 120303820 120303820 A T rs2579624 CFAP221 Nonsynonymous SNV E38V 0.494 0.518 0.469 183 580 199 0.469 138 143 52 32 44 15.11 37761 chr1 22160020 22160020 C T rs17459097 HSPG2 Nonsynonymous SNV V3641I 0.06 0.06 0.061 19 70 23 0.049 18 1 1 0 1 Benign 14.89 37762 chr1 15905471 15905471 G A rs116813534 AGMAT Synonymous SNV H201H 0.009 0.01 0.007 9 11 4 0.023 2 0 0 0 0 11.32 37763 chr1 206224635 206224635 G C rs35369693 AVPR1B Nonsynonymous SNV K65N 0.064 0.076 0.092 17 75 29 0.044 27 4 0 2 0 25.3 37764 chr1 171504688 171504688 T C rs144915557 PRRC2C Synonymous SNV Y663Y 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.23 37765 chr1 22201438 22201438 C T rs41307806 HSPG2 Synonymous SNV A1121A 0.09 0.094 0.088 34 106 36 0.087 26 3 1 0 3 Benign 13.31 37766 chr1 206230958 206230958 G A rs28632197 AVPR1B Nonsynonymous SNV R364H 0.122 0.122 0.116 38 143 47 0.097 34 7 4 3 0 14.72 37767 chr1 202888947 202888947 T C rs3182429 KLHL12 Synonymous SNV T133T 0.171 0.19 0.15 67 201 73 0.172 44 21 3 3 7 7.194 37768 chr1 206230986 206230986 G A rs28676508 AVPR1B Synonymous SNV S373S 0.139 0.133 0.133 39 163 51 0.1 39 9 3 4 0 11.22 37769 chr1 203028371 203028371 G T rs61732315 PPFIA4 Nonsynonymous SNV A825S 0.107 0.107 0.122 55 126 41 0.141 36 7 2 1 1 22.7 37770 chr1 203024667 203024667 G A rs773215858 PPFIA4 Nonsynonymous SNV R646H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 37771 chr1 203053787 203053787 C T rs138360992 MYOG Nonsynonymous SNV A181T 0.014 0.008 0.014 4 16 3 0.01 4 0 0 0 0 10.99 37772 chr1 22214046 22214046 C T rs41307868 HSPG2 Synonymous SNV L275L 0.089 0.094 0.088 34 105 36 0.087 26 3 1 0 3 Benign 9 37773 chr2 121742307 121742307 C T rs13008360 GLI2 Synonymous SNV T648T 0.02 0.021 0.024 11 23 8 0.028 7 0 0 0 0 Benign/Likely benign 17.89 37774 chr1 17297132 17297132 T C rs145138931 CROCC Nonsynonymous SNV V1885A 0.01 0.013 0.007 3 12 5 0.008 2 0 0 0 0 23.9 37775 chr1 186363119 186363119 C G rs12084264 ODR4 Nonsynonymous SNV S219C 0.261 0.258 0.316 93 306 99 0.238 93 73 24 20 23 16.69 37776 chr1 186648197 186648197 C G rs5277 PTGS2 Synonymous SNV V102V 0.136 0.143 0.116 62 160 55 0.159 34 11 3 2 6 12.49 37777 chr1 222713501 222713501 C A rs3748663 HHIPL2 Nonsynonymous SNV R434L 0.083 0.076 0.092 23 98 29 0.059 27 4 0 0 1 8.325 37778 chr1 203472112 203472112 T C rs79523790 OPTC Nonsynonymous SNV L268P 0.078 0.099 0.058 30 92 38 0.077 17 6 2 0 0 Benign 14.3 37779 chr1 222713621 222713621 C T rs3748665 HHIPL2 Nonsynonymous SNV R394Q 0.083 0.076 0.092 23 98 29 0.059 27 4 0 0 1 17.12 37780 chr2 127956991 127956991 G A rs34225806 CYP27C1 Synonymous SNV Y171Y 0.025 0.031 0.027 16 29 12 0.041 8 1 0 0 1 0.574 37781 chr1 203743122 203743122 G A rs3820194 LAX1 Synonymous SNV S154S 0.295 0.315 0.357 94 346 121 0.241 105 58 18 17 13 4.582 37782 chr1 203743653 203743653 C T rs3766748 LAX1 Synonymous SNV D331D 0.295 0.315 0.357 94 346 121 0.241 105 58 18 17 13 5.607 37783 chr1 222802376 222802376 A G rs2936052 MIA3 Nonsynonymous SNV K605R 0.216 0.247 0.19 69 254 95 0.177 56 28 15 4 3 0.51 37784 chr1 203767822 203767822 T G rs6697388 ZBED6 Nonsynonymous SNV L391R 0.089 0.13 0.126 38 104 50 0.097 37 3 2 4 3 0.053 37785 chr1 15986628 15986628 A C rs761444698 RSC1A1 Nonsynonymous SNV T89P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.289 37786 chr2 12877501 12877501 - A rs5829384 MIR3125 0 0 0.714 0 0 0 0 210 0 0 72 0 37787 chr1 204380404 204380404 C T rs149785262 PPP1R15B Nonsynonymous SNV G46R 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Likely benign 14.73 37788 chr1 222803204 222803204 A G rs2936051 MIA3 Nonsynonymous SNV E881G 0.217 0.247 0.19 69 255 95 0.177 56 29 15 4 3 19.55 37789 chr2 131103635 131103635 C T rs11542415 IMP4 Nonsynonymous SNV T200I 0.089 0.091 0.044 26 104 35 0.067 13 4 0 0 2 11.46 37790 chr1 204379532 204379532 T C rs11799830 PPP1R15B Synonymous SNV P336P 0.039 0.078 0.034 24 46 30 0.062 10 0 2 0 2 0.203 37791 chr2 131519880 131519880 G A rs780428758 AMER3 Nonsynonymous SNV A79T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.857 37792 chr1 1905526 1905526 C A rs200214481 CFAP74 Nonsynonymous SNV E204D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.033 37793 chr2 131672271 131672271 T C rs6752724 ARHGEF4 Nonsynonymous SNV L251P 0 0 0.721 0 0 0 0 212 0 0 106 0 1.964 37794 chr1 223176275 223176275 G A rs61738819 DISP1 Synonymous SNV V512V 0.161 0.138 0.139 67 189 53 0.172 41 16 2 0 6 Benign 6.45 37795 chr1 223177574 223177574 A G rs2609355 DISP1 Synonymous SNV K945K 0.271 0.245 0.289 111 318 94 0.285 85 49 9 14 11 Benign 0.153 37796 chr1 16046324 16046324 C T rs115985482 PLEKHM2 Synonymous SNV H187H 0.006 0.008 0.003 6 7 3 0.015 1 0 0 0 0 Benign 12.93 37797 chr1 223178478 223178478 G A rs9441940 DISP1 Nonsynonymous SNV A1247T 0.18 0.151 0.163 69 211 58 0.177 48 20 2 1 6 Benign 0.001 37798 chr1 173478767 173478767 T C rs748277848 SLC9C2 Nonsynonymous SNV I993M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.751 37799 chr2 133174764 133174764 C T rs2241764 GPR39 Nonsynonymous SNV A50V 0.335 0.305 0.265 124 393 117 0.318 78 58 17 10 14 12.02 37800 chr2 133174999 133174999 A G rs2241763 GPR39 Synonymous SNV T128T 0.336 0.305 0.269 125 394 117 0.321 79 58 17 10 14 0.019 37801 chr1 223283851 223283851 T C rs1053954 TLR5 Synonymous SNV K841K 0.141 0.154 0.116 44 165 59 0.113 34 18 1 4 1 0.112 37802 chr2 133489601 133489601 A G rs56284623 NCKAP5 Synonymous SNV L399L 0.25 0.237 0.241 114 294 91 0.292 71 36 10 13 15 6.26 37803 chr2 134884700 134884700 G A rs6430498 MIR3679 0 0 0.398 0 0 0 0 117 0 0 27 0 3.598 37804 chr2 135745129 135745129 G A rs16831235 MAP3K19 Nonsynonymous SNV T325I 0.315 0.276 0.282 113 370 106 0.29 83 71 14 12 13 20.7 37805 chr1 20960385 20960385 A T rs148871409 PINK1 Nonsynonymous SNV Q115L 0.036 0.039 0.024 16 42 15 0.041 7 3 0 0 0 Benign/Likely benign 16.97 37806 chr1 204971736 204971736 A G rs201308601 NFASC Nonsynonymous SNV K1050R 0.008 0.026 0 2 9 10 0.005 0 0 1 0 0 16.97 37807 chr1 224001963 224001963 G A rs76208122 TP53BP2 Nonsynonymous SNV R90C 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign 19.11 37808 chr1 205027192 205027192 C T rs149564430 CNTN2 Nonsynonymous SNV R72W 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Benign 26.6 37809 chr2 141093253 141093253 G A rs150957163 LRP1B Nonsynonymous SNV P4016L 0.008 0.018 0.014 5 9 7 0.013 4 0 0 0 0 25 37810 chr2 141116447 141116447 G T rs35546150 LRP1B Nonsynonymous SNV Q3734K 0.049 0.06 0.037 19 57 23 0.049 11 2 1 0 0 10.33 37811 chr1 196963211 196963211 A T rs181511327 CFHR5 Nonsynonymous SNV K144N 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 Uncertain significance 8.346 37812 chr2 141267573 141267573 G A rs35821928 LRP1B Synonymous SNV C2774C 0.08 0.073 0.075 28 94 28 0.072 22 4 2 0 0 12.49 37813 chr1 209933635 209933635 C T rs376690147 TRAF3IP3 Nonsynonymous SNV A84V 0.014 0.005 0 1 16 2 0.003 0 0 0 0 0 9.781 37814 chr1 197061086 197061086 A C rs36004306 ASPM Nonsynonymous SNV L1547R 0.037 0.034 0.034 12 44 13 0.031 10 0 0 0 0 Benign 6.754 37815 chr1 205561372 205561372 C T rs7529077 MFSD4A Synonymous SNV F418F 0.164 0.143 0.201 70 193 55 0.179 59 16 7 7 7 16.75 37816 chr2 143798189 143798189 A G rs9013 KYNU Nonsynonymous SNV K412E 0.104 0.117 0.153 50 122 45 0.128 45 4 2 5 5 0.022 37817 chr1 205628442 205628442 C T rs151018622 SLC45A3 Nonsynonymous SNV A528T 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 23.7 37818 chr1 17742988 17742988 G A rs147502663 RCC2 Synonymous SNV G338G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 37819 chr1 225528189 225528189 C T rs115148958 DNAH14 Synonymous SNV P3488P 0.017 0.018 0 6 20 7 0.015 0 0 0 0 0 15.88 37820 chr1 225528340 225528340 C T rs12184324 DNAH14 Nonsynonymous SNV L3539F 0.053 0.07 0.031 23 62 27 0.059 9 1 0 0 0 24.8 37821 chr1 161682975 161682975 G T rs6688140 FCRLA Synonymous SNV P60P 0.063 0.068 0.058 27 74 26 0.069 17 2 3 0 4 0.209 37822 chr1 161697319 161697319 G A rs34868416 FCRLB Nonsynonymous SNV G383D 0.075 0.076 0.071 24 88 29 0.062 21 2 2 0 2 23.5 37823 chr2 148730367 148730367 G C rs2307397 ORC4 Nonsynonymous SNV L56V 0.068 0.047 0.071 21 80 18 0.054 21 9 2 0 1 Benign 11.75 37824 chr2 152112161 152112161 C G rs147060862 RBM43 Nonsynonymous SNV V34L 0.055 0.052 0.051 31 64 20 0.079 15 2 0 0 0 0.002 37825 chr1 211451467 211451467 T C rs11577985 RCOR3 Synonymous SNV D117D 0.15 0.169 0.15 74 176 65 0.19 44 9 6 2 6 1.357 37826 chr1 179055020 179055020 C T rs2296376 TOR3A Synonymous SNV L211L 0.111 0.083 0.136 17 130 32 0.044 40 7 0 2 0 5.948 37827 chr1 225539363 225539363 G A rs12408617 DNAH14 Nonsynonymous SNV G3771S 0.053 0.07 0.031 23 62 27 0.059 9 1 0 0 0 0.004 37828 chr2 152226570 152226570 A G rs1046668 TNFAIP6 Nonsynonymous SNV Q144R 0.108 0.081 0.16 43 127 31 0.11 47 8 3 5 1 0.638 37829 chr1 207085267 207085267 G A rs144958422 FCMR Nonsynonymous SNV P61L 0.014 0.01 0 2 16 4 0.005 0 0 0 0 0 7.556 37830 chr1 198668761 198668761 G C rs41269905 PTPRC Nonsynonymous SNV D123H 0.021 0.018 0.01 8 25 7 0.021 3 0 1 0 0 Benign 18.19 37831 chr1 17699720 17699720 G A rs181841908 PADI6 Nonsynonymous SNV A96T 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 5.47 37832 chr1 212798498 212798498 C T rs150501296 FAM71A Synonymous SNV T93T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.379 37833 chr1 198676063 198676063 A C rs2230606 PTPRC Nonsynonymous SNV I135L 0.019 0.018 0.01 4 22 7 0.01 3 0 1 0 0 Benign 0.001 37834 chr1 198677386 198677386 G A rs41314043 PTPRC Synonymous SNV Q182Q 0.017 0.018 0.007 4 20 7 0.01 2 0 1 0 0 Benign 2.77 37835 chr1 207140440 207140440 C T rs11119933 FCAMR Synonymous SNV A42A 0.148 0.172 0.139 67 174 66 0.172 41 10 6 2 5 11.19 37836 chr1 207307932 207307932 G A rs116700161 C4BPA Nonsynonymous SNV G423E 0.005 0.01 0.014 4 6 4 0.01 4 0 0 0 0 0.001 37837 chr1 226026496 226026496 A G EPHX1 Nonsynonymous SNV N169S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.009 37838 chr1 226040404 226040404 C T rs1009668 TMEM63A Nonsynonymous SNV V622M 0.082 0.086 0.088 34 96 33 0.087 26 3 0 2 2 13.62 37839 chr1 178834519 178834519 A C ANGPTL1 Synonymous SNV T131T 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 0.047 37840 chr1 200549451 200549451 T C rs115265657 KIF14 Synonymous SNV L641L 0.029 0.057 0.051 10 34 22 0.026 15 1 1 1 0 0.204 37841 chr2 152474798 152474798 G A rs200427401 NEB Synonymous SNV N3446N 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 10.37 37842 chr10 101591541 101591541 G C rs144521346 ABCC2 Nonsynonymous SNV Q1019H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 11.51 37843 chr1 201083886 201083886 C G rs57062668 ASCL5 Nonsynonymous SNV W205C 0.133 0.167 0.167 61 156 64 0.156 49 13 8 4 1 1.959 37844 chr2 152512463 152512463 C T NEB Synonymous SNV E2190E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 37845 chr1 201174215 201174215 C A rs11584104 IGFN1 Nonsynonymous SNV P308T 0.055 0.076 0.048 26 65 29 0.067 14 1 0 1 1 20.3 37846 chr1 179600001 179600001 A G rs6704505 TDRD5 Nonsynonymous SNV K358E 0.084 0.083 0.085 22 99 32 0.056 25 1 1 1 1 12.02 37847 chr1 179600042 179600042 G A rs72706738 TDRD5 Synonymous SNV K371K 0.023 0.023 0.024 7 27 9 0.018 7 0 0 0 1 12.12 37848 chr10 101824954 101824954 G A rs3750717 CPN1 Synonymous SNV L250L 0.024 0.042 0.003 10 28 16 0.026 1 0 0 0 0 7.59 37849 chr1 179621224 179621224 G A rs10913851 TDRD5 Synonymous SNV G239G 0.023 0.023 0.024 7 27 9 0.018 7 0 0 0 1 10.04 37850 chr1 20960230 20960230 C T rs45530340 PINK1 Synonymous SNV L63L 0.179 0.214 0.126 74 210 82 0.19 37 17 8 7 8 Benign 10.97 37851 chr1 179632536 179632536 A G rs72706766 TDRD5 Synonymous SNV S354S 0.023 0.023 0.024 7 27 9 0.018 7 0 0 0 1 8.14 37852 chr1 201175768 201175768 G C rs116753369 IGFN1 Nonsynonymous SNV D583H 0.044 0.065 0.041 22 52 25 0.056 12 1 0 1 0 14.02 37853 chr11 1018222 1018222 - GG MUC6 Frameshift insertion S1527Pfs*66 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 37854 chr11 1018226 1018229 TAGC - MUC6 L1525Ifs*66 0.055 0.06 0 12 65 23 0.031 0 0 0 0 0 37855 chr10 101980355 101980355 A G rs2230803 CHUK Nonsynonymous SNV V155A 0.009 0.029 0 3 10 11 0.008 0 0 0 0 0 5.917 37856 chr1 215847956 215847956 C A rs111033381 USH2A Nonsynonymous SNV V4433L 0.036 0.029 0.017 11 42 11 0.028 5 0 0 0 0 Benign 13.71 37857 chr10 102005620 102005620 C T rs12269345 CWF19L1 Synonymous SNV R163R 0.047 0.052 0.037 9 55 20 0.023 11 0 0 1 0 17.34 37858 chr10 102016044 102016044 C T rs2270962 CWF19L1 Nonsynonymous SNV C23Y 0.078 0.096 0.088 18 92 37 0.046 26 1 4 3 0 Likely benign 22.1 37859 chr1 180793944 180793944 G T rs144546884 XPR1 Synonymous SNV R273R 0.015 0.005 0.01 6 18 2 0.015 3 0 0 0 0 Benign 3.388 37860 chr1 215848062 215848062 C T rs2009923 USH2A Synonymous SNV E4397E 0.188 0.193 0.241 73 221 74 0.187 71 23 2 6 5 Benign 9.143 37861 chr1 201179089 201179089 G A rs11576220 IGFN1 Nonsynonymous SNV A1690T 0.055 0.07 0.037 23 64 27 0.059 11 0 0 0 0 16.91 37862 chr10 102051099 102051099 T C rs79568268 PKD2L1 Nonsynonymous SNV K609E 0.009 0.029 0 3 10 11 0.008 0 0 0 0 0 0.799 37863 chr1 201179128 201179128 G A rs71635535 IGFN1 Nonsynonymous SNV G1703R 0.043 0.047 0.048 26 51 18 0.067 14 1 0 2 0 21 37864 chr1 228109471 228109471 C T rs8192633 WNT9A Synonymous SNV P282P 0.024 0.029 0.037 8 28 11 0.021 11 0 0 1 0 7.877 37865 chr2 15840522 15840522 G T rs4668461 LINC01804 0 0 0.605 0 0 0 0 178 0 0 55 0 1.824 37866 chr2 15840623 15840623 A G rs58183965 LINC01804 0 0 0.099 0 0 0 0 29 0 0 2 0 4.967 37867 chr2 15840645 15840645 T C rs4668962 LINC01804 0 0 0.619 0 0 0 0 182 0 0 57 0 0.008 37868 chr1 201181732 201181732 G T rs759044374 IGFN1 Nonsynonymous SNV G2571W 0.004 0.016 0 0 5 6 0 0 0 0 0 0 21.9 37869 chr1 216258213 216258213 A G rs56222536 USH2A Nonsynonymous SNV I1665T 0.177 0.156 0.119 81 208 60 0.208 35 13 3 1 7 Benign 14.14 37870 chr1 209880457 209880457 C T rs376494402 HSD11B1 Synonymous SNV V167V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.34 37871 chr1 201181973 201181973 C T rs201190585 IGFN1 Nonsynonymous SNV S2651F 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 23.3 37872 chr2 158958551 158958551 - A rs11368509 UPP2 0.059 0.057 0.078 25 69 22 0.064 23 2 1 1 1 37873 chr2 158958605 158958605 G T rs6710480 UPP2 Nonsynonymous SNV R10S 0.061 0.068 0.088 27 72 26 0.069 26 2 1 1 1 0.29 37874 chr1 201182693 201182693 G A rs149805659 IGFN1 Nonsynonymous SNV R2891Q 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 0.005 37875 chr11 1018272 1018272 C G rs796397888 MUC6 Nonsynonymous SNV S1510T 0.101 0.094 0 29 119 36 0.074 0 0 0 0 0 0.005 37876 chr10 102765404 102765404 C A rs937582794 LZTS2 Synonymous SNV R200R 0.006 0.005 0 7 7 2 0.018 0 0 0 0 0 22.8 37877 chr1 216462662 216462662 T A rs1805048 USH2A Nonsynonymous SNV D644V 0.15 0.125 0.109 56 176 48 0.144 32 9 1 2 2 Benign/Likely benign 19.91 37878 chr1 201183424 201183424 G A rs41304263 IGFN1 Nonsynonymous SNV V2950I 0.055 0.073 0.048 24 65 28 0.062 14 1 0 1 1 23.1 37879 chr2 159201754 159201754 T C rs4664950 CCDC148 Nonsynonymous SNV Q75R 0.033 0.016 0.024 5 39 6 0.013 7 1 0 0 0 22.8 37880 chr11 1018281 1018281 C A rs796398923 MUC6 Nonsynonymous SNV S1507I 0.095 0.102 0 31 112 39 0.079 0 0 0 0 0 12.27 37881 chr11 1018286 1018286 G T rs796549549 MUC6 Synonymous SNV T1505T 0.017 0.021 0 7 20 8 0.018 0 0 0 0 0 0.283 37882 chr10 102778967 102778967 G A rs35038258 PDZD7 Synonymous SNV N312N 0.02 0.01 0.02 11 23 4 0.028 6 0 0 0 0 Benign 13.17 37883 chr1 201185752 201185752 G A rs143770388 IGFN1 Nonsynonymous SNV A3156T 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 11.39 37884 chr1 217915324 217915324 C T rs34347452 SPATA17 Synonymous SNV L135L 0.172 0.156 0.126 61 202 60 0.156 37 20 2 2 3 12.64 37885 chr2 159672252 159672252 G A rs61740878 DAPL1 Synonymous SNV A81A 0.17 0.203 0.146 67 200 78 0.172 43 15 7 3 5 13.95 37886 chr2 159954175 159954175 C T rs34588551 TANC1 Nonsynonymous SNV P30S 0.343 0.365 0.374 146 403 140 0.374 110 66 22 21 25 5.941 37887 chr1 209968753 209968753 C A rs34907424 IRF6 Synonymous SNV G35G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 16.81 37888 chr1 1684347 1684347 - CCTCCT rs150880809 NADK E413_G414insEE 0.005 0.01 0.01 0 6 4 0 3 0 0 0 0 37889 chr2 160028638 160028638 A T rs762586930 TANC1 Nonsynonymous SNV D252V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 37890 chr1 210577884 210577884 G A rs2294851 HHAT Nonsynonymous SNV S183N 0.112 0.107 0.112 46 131 41 0.118 33 4 1 1 2 29.7 37891 chr2 160035195 160035195 C T rs12988603 TANC1 Synonymous SNV N476N 0.367 0.378 0.398 150 431 145 0.385 117 73 22 24 27 9.45 37892 chr10 103552659 103552659 C T rs778383941 OGA Synonymous SNV Q651Q 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 10.28 37893 chr1 2113266 2113266 G A rs262689 PRKCZ-AS1 0.06 0.068 0.041 16 71 26 0.041 12 2 0 0 0 1.597 37894 chr1 21012575 21012575 G A rs479323 KIF17 Synonymous SNV P661P 0.068 0.065 0.099 32 80 25 0.082 29 6 1 1 3 8.82 37895 chr1 21016706 21016706 C T KIF17 Synonymous SNV L452L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.76 37896 chr10 103825929 103825929 T G rs36078476 HPS6 Nonsynonymous SNV L233R 0.015 0.021 0.01 8 18 8 0.021 3 0 0 0 0 Benign/Likely benign 0.012 37897 chr1 21050719 21050719 C T rs41265079 SH2D5 Nonsynonymous SNV R135H 0.009 0 0.003 1 11 0 0.003 1 0 0 0 0 24.2 37898 chr1 212273606 212273606 G A rs35137676 DTL Nonsynonymous SNV S154N 0.043 0.031 0.031 14 51 12 0.036 9 3 0 0 0 6.076 37899 chr10 104140355 104140355 C T rs112809254 GBF1 Synonymous SNV P1691P 0.036 0.042 0.034 16 42 16 0.041 10 0 0 2 1 8.812 37900 chr11 1018390 1018390 C A rs111785507 MUC6 Nonsynonymous SNV A1471S 0.06 0.065 0.027 12 70 25 0.031 8 0 0 0 0 0.002 37901 chr1 21175951 21175951 G A EIF4G3 Nonsynonymous SNV S1226L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 34 37902 chr11 1018436 1018436 C T rs12802800 MUC6 Synonymous SNV V1455V 0.068 0.049 0.048 16 80 19 0.041 14 0 0 0 0 4.916 37903 chr1 212788567 212788567 C T rs2229346 ATF3 Synonymous SNV S68S 0.033 0.031 0.017 16 39 12 0.041 5 1 0 0 1 13.62 37904 chr1 212798601 212798601 C A rs17019481 FAM71A Synonymous SNV R128R 0.033 0.031 0.014 17 39 12 0.044 4 1 0 0 1 13.41 37905 chr11 1026084 1026084 G A rs12801568 MUC6 Synonymous SNV C868C 0.076 0.057 0.058 15 89 22 0.038 17 4 0 1 0 0.796 37906 chr1 212276276 212276276 A G rs17853180 DTL Synonymous SNV E458E 0.055 0.055 0.068 31 64 21 0.079 20 0 1 1 1 7.946 37907 chr11 1051658 1051658 C - rs34698395 LINC02688 0.075 0.049 0 21 88 19 0.054 0 4 0 0 1 37908 chr1 212799139 212799139 A G rs146657378 FAM71A Nonsynonymous SNV Q307R 0.029 0.026 0.014 12 34 10 0.031 4 0 0 0 0 11.66 37909 chr11 1051658 1051658 - C LINC02688 0.016 0.013 0 3 19 5 0.008 0 0 0 0 0 37910 chr11 1093600 1093600 G A rs74193969 MUC2 Nonsynonymous SNV G1807S 0.025 0.039 0.037 16 29 15 0.041 11 0 0 0 1 8.133 37911 chr10 104660474 104660474 G A rs17879039 BORCS7-ASMT 0.011 0.008 0.003 7 13 3 0.018 1 0 0 0 0 6.08 37912 chr1 212799882 212799882 A T rs143861665 FAM71A Stop gain K555X 0.014 0.01 0.014 2 17 4 0.005 4 0 0 0 0 Likely benign 36 37913 chr1 171605387 171605387 T C rs56314834 MYOC Nonsynonymous SNV K398R 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.866 37914 chr2 165551201 165551201 T C rs7607980 COBLL1 Nonsynonymous SNV N901D 0.128 0.122 0.16 52 150 47 0.133 47 12 3 2 3 0.063 37915 chr10 105173778 105173778 G A rs201230473 PDCD11 Nonsynonymous SNV G414E 0.006 0.005 0 7 7 2 0.018 0 0 0 0 0 26 37916 chr1 182640851 182640851 T G rs569956 RGS8 Synonymous SNV R7R 0.06 0.076 0.061 19 71 29 0.049 18 3 1 0 0 2.176 37917 chr1 182640864 182640864 T C rs680277 RGS8 Nonsynonymous SNV N3S 0.06 0.076 0.061 19 71 29 0.049 18 3 1 0 0 0.069 37918 chr1 202715270 202715270 C T rs144390145 KDM5B Nonsynonymous SNV R688Q 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Benign 25.8 37919 chr1 212985592 212985592 G A rs78095001 TATDN3, TATDN3 Nonsynonymous SNV A164T 0.043 0.063 0.037 10 51 24 0.026 11 2 0 0 0 13.68 37920 chr2 166872186 166872186 C T rs201079458 SCN1A Nonsynonymous SNV A1161T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.27 37921 chr1 202935911 202935911 T C rs2232842 CYB5R1 Nonsynonymous SNV N44S 0.028 0.013 0.024 10 33 5 0.026 7 1 0 0 0 5.583 37922 chr1 214794059 214794059 C A rs141892982 CENPF Nonsynonymous SNV A212D 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Uncertain significance 34 37923 chr2 166900411 166900411 C T rs121918769 SCN1A Nonsynonymous SNV R604H 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Benign/Likely benign 23.8 37924 chr1 214795454 214795454 C T rs17023281 CENPF Nonsynonymous SNV R300C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 22.9 37925 chr1 17326540 17326540 G A rs56290406 ATP13A2 Synonymous SNV A330A 0.028 0.023 0.017 10 33 9 0.026 5 0 0 0 0 Benign 9.771 37926 chr1 214816263 214816263 T C rs141472136 CENPF Nonsynonymous SNV C1528R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.02 37927 chr1 22927408 22927408 G A rs56055011 EPHA8 Synonymous SNV E852E 0.093 0.102 0.092 31 109 39 0.079 27 4 3 2 1 7.676 37928 chr1 22927503 22927503 G A rs62618734 EPHA8 Nonsynonymous SNV R884H 0.022 0.016 0.007 3 26 6 0.008 2 1 0 0 0 Likely benign 27.6 37929 chr2 168041152 168041152 T C rs16853169 XIRP2 0.162 0.12 0.17 71 190 46 0.182 50 17 3 5 7 2.689 37930 chr1 203652469 203652469 G A rs61731222 ATP2B4 Nonsynonymous SNV V46I 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 12.23 37931 chr2 169952173 169952173 G C rs11695788 DHRS9 Nonsynonymous SNV D286H 0.012 0.018 0.017 7 14 7 0.018 5 1 0 0 0 29.6 37932 chr1 175129925 175129933 CTTCTTCTT - rs150137790 KIAA0040 K73_K75del 0 0.003 0 0 0 1 0 0 0 0 0 0 37933 chr1 186123045 186123045 C T rs754953588 HMCN1 Nonsynonymous SNV A5061V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.2 37934 chr1 175129933 175129933 - CTT KIAA0040 K75_D76insK 0 0.003 0 0 0 1 0 0 0 0 0 0 37935 chr1 204192659 204192659 G A rs145148095 PLEKHA6 Nonsynonymous SNV A1029V 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 13.13 37936 chr1 216051157 216051157 C T rs12118814 USH2A Nonsynonymous SNV R2875Q 0.03 0.026 0.034 18 35 10 0.046 10 0 1 0 0 Benign 23.1 37937 chr2 170025083 170025083 A G rs2229268 LRP2 Synonymous SNV C3867C 0.235 0.266 0.255 96 276 102 0.246 75 28 20 7 13 Benign 4.949 37938 chr11 1298412 1298412 G A rs144425237 TOLLIP Nonsynonymous SNV R178C 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 23.6 37939 chr1 224415509 224415509 A G rs3767732 LOC101927164 0.055 0.057 0.051 25 64 22 0.064 15 2 0 1 2 0.628 37940 chr1 231360035 231360035 A G rs199681084 C1orf131 Nonsynonymous SNV V290A 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 23.6 37941 chr2 170366388 170366388 G A KLHL41 Nonsynonymous SNV D34N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 37942 chr10 107022160 107022160 G A rs41291854 SORCS3 Nonsynonymous SNV S1172N 0.012 0.013 0.01 10 14 5 0.026 3 0 0 0 0 Benign 17.72 37943 chr2 170402752 170402752 T C rs2290010 FASTKD1 Synonymous SNV S536S 0.07 0.076 0.041 24 82 29 0.062 12 3 0 0 1 9.405 37944 chr2 170441001 170441001 G A rs2276611 PPIG 0.095 0.112 0.092 54 111 43 0.138 27 4 2 0 3 28.1 37945 chr2 170502401 170502401 G A rs17544587 CCDC173 Nonsynonymous SNV P537S 0.112 0.107 0.109 50 132 41 0.128 32 4 2 2 3 0.275 37946 chr1 21894735 21894735 T C rs3200254 ALPL Nonsynonymous SNV Y186H 0.11 0.104 0.078 52 129 40 0.133 23 7 3 1 1 Benign 8.375 37947 chr1 186276218 186276218 C T rs781419552 PRG4 Nonsynonymous SNV P322L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.977 37948 chr1 21900171 21900171 A G rs3200255 ALPL Synonymous SNV P215P 0.114 0.112 0.082 55 134 43 0.141 24 8 4 1 1 Benign 2.624 37949 chr1 232564297 232564297 T A rs3210731 SIPA1L2 Nonsynonymous SNV M1424L 0.129 0.112 0.126 37 151 43 0.095 37 10 2 2 2 15.6 37950 chr1 186946848 186946848 A G rs751885899 PLA2G4A Nonsynonymous SNV M570V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.352 37951 chr1 232574921 232574921 T C rs2275307 SIPA1L2 Nonsynonymous SNV T1322A 0.129 0.107 0.109 41 152 41 0.105 32 9 2 1 1 0.002 37952 chr1 204957768 204957768 G C rs79077032 NFASC Synonymous SNV G863G 0.009 0.005 0.003 6 10 2 0.015 1 0 0 0 0 Benign 6.966 37953 chr1 18807938 18807938 C A rs2992754 KLHDC7A Nonsynonymous SNV P155T 0.118 0.128 0.122 43 138 49 0.11 36 5 3 6 1 22.7 37954 chr1 232581436 232581436 G A rs12757779 SIPA1L2 Synonymous SNV T1064T 0.101 0.073 0.095 33 118 28 0.085 28 5 1 0 1 10.49 37955 chr1 220091766 220091766 A G rs138025172 SLC30A10 Synonymous SNV Y263Y 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Uncertain significance 0.151 37956 chr1 17708528 17708528 G A rs61766772 PADI6 Nonsynonymous SNV R207Q 0.102 0.091 0.065 44 120 35 0.113 19 7 2 1 1 8.204 37957 chr1 205027137 205027137 G A rs907497961 CNTN2 Synonymous SNV T53T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.16 37958 chr1 233091463 233091463 T A rs12725558 NTPCR Synonymous SNV V65V 0.144 0.122 0.109 43 169 47 0.11 32 13 3 3 3 13.55 37959 chr2 171570151 171570151 C T rs72885464 LINC01124 0 0 0.313 0 0 0 0 92 0 0 14 0 0.929 37960 chr1 233120192 233120192 G A rs113070999 PCNX2 Nonsynonymous SNV A2091V 0.036 0.034 0.027 16 42 13 0.041 8 0 0 1 0 9.541 37961 chr1 22056243 22056243 A G rs138249562 USP48 Synonymous SNV Y418Y 0.01 0.008 0.007 1 12 3 0.003 2 0 0 0 0 5.866 37962 chr2 171570488 171570488 C G rs7563812 LINC01124 0 0 0.629 0 0 0 0 185 0 0 64 0 4.789 37963 chr1 18808711 18808711 G C rs2992751 KLHDC7A Synonymous SNV G412G 0.104 0.12 0.112 40 122 46 0.103 33 5 3 6 0 0.004 37964 chr1 221053545 221053545 T C rs12141189 HLX Nonsynonymous SNV S116P 0.198 0.195 0.19 73 233 75 0.187 56 23 9 9 6 18.74 37965 chr1 215901492 215901492 C T rs2820718 USH2A Synonymous SNV L3982L 0.184 0.193 0.177 64 216 74 0.164 52 15 7 4 2 Benign 15.43 37966 chr2 171627639 171627639 G A rs1106746 ERICH2 Nonsynonymous SNV A150T 0.046 0.036 0.054 9 54 14 0.023 16 0 0 1 0 10.51 37967 chr1 215987222 215987222 T C rs4129843 USH2A Nonsynonymous SNV N3199D 0.039 0.047 0.027 15 46 18 0.038 8 2 0 0 0 Benign 0.003 37968 chr1 233275555 233275555 C T rs114498244 PCNX2 Synonymous SNV Q1188Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.77 37969 chr1 205306590 205306590 G A rs3210952 KLHDC8A Synonymous SNV A330A 0.184 0.19 0.136 74 216 73 0.19 40 20 9 4 9 10.36 37970 chr1 221057662 221057662 G A rs3738182 HLX Synonymous SNV E361E 0.114 0.13 0.126 45 134 50 0.115 37 6 2 1 4 2.047 37971 chr1 216011361 216011361 T C rs56032526 USH2A Nonsynonymous SNV T3115A 0.039 0.047 0.027 15 46 18 0.038 8 2 0 0 0 Benign 0.002 37972 chr1 22109370 22109370 G A rs10917042 USP48 Synonymous SNV H27H 0.222 0.229 0.184 79 261 88 0.203 54 38 10 6 3 9.737 37973 chr11 2161430 2161430 G A rs200441006 IGF2 Stop gain Q33X 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 35 37974 chr1 216051125 216051125 G A rs41277200 USH2A Nonsynonymous SNV L2886F 0.038 0.049 0.027 15 45 19 0.038 8 2 0 0 0 Benign 13.2 37975 chr1 179112145 179112145 C G rs1318056 ABL2 Nonsynonymous SNV S12T 0.086 0.107 0.082 49 101 41 0.126 24 0 3 1 3 7.517 37976 chr2 172926226 172926226 G T rs10497377 METAP1D Nonsynonymous SNV G14V 0.014 0.005 0.003 1 16 2 0.003 1 0 0 0 0 22.7 37977 chr1 216073505 216073505 C T rs12404427 USH2A Synonymous SNV P2502P 0.043 0.06 0.031 27 50 23 0.069 9 1 0 1 1 Benign 18.45 37978 chr2 173848287 173848287 C G rs17301507 RAPGEF4 Synonymous SNV A136A 0.047 0.047 0.051 22 55 18 0.056 15 3 0 2 0 15.63 37979 chr1 221912334 221912334 T G rs35552569 DUSP10 Synonymous SNV P251P 0.011 0.008 0.003 4 13 3 0.01 1 0 0 0 0 3.757 37980 chr1 19018405 19018405 G A rs2076020 PAX7 Synonymous SNV E248E 0.06 0.065 0.061 21 70 25 0.054 18 1 1 0 0 9.136 37981 chr11 2192950 2192950 C T rs201081519 TH Nonsynonymous SNV A23T 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 Uncertain significance 22.8 37982 chr1 19018432 19018432 A C rs2076019 PAX7 Synonymous SNV T257T 0.06 0.065 0.061 22 70 25 0.056 18 1 1 0 0 0.048 37983 chr1 19238529 19238529 T C rs17492693 IFFO2 Synonymous SNV E384E 0.065 0.073 0.044 24 76 28 0.062 13 4 2 1 0 4.481 37984 chr2 176866967 176866967 C T rs935492 LNPK Nonsynonymous SNV A18T 0.243 0.216 0.194 92 285 83 0.236 57 32 10 8 7 9.372 37985 chr1 21924946 21924946 T C rs147394161 RAP1GAP Nonsynonymous SNV Y673C 0.012 0.026 0.007 1 14 10 0.003 2 0 0 0 0 27.8 37986 chr2 176965086 176965086 G A rs35817516 HOXD12 Nonsynonymous SNV R186Q 0.106 0.07 0.102 33 124 27 0.085 30 3 1 2 2 23.1 37987 chr1 21935358 21935358 C T rs74060020 RAP1GAP Synonymous SNV K445K 0.015 0.036 0.01 4 18 14 0.01 3 0 0 0 0 18.92 37988 chr2 177497817 177497817 A C rs2969361 LINC01116 0 0 0.99 0 0 0 0 291 0 0 145 0 1.675 37989 chr10 115657933 115657933 A T rs776191573 NHLRC2 Synonymous SNV A368A 0.003 0 0 5 3 0 0.013 0 0 0 0 0 1.57 37990 chr1 192127857 192127857 A C rs771699870 RGS18 Nonsynonymous SNV K30N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 37991 chr1 220298664 220298664 A G rs78770848 IARS2 Nonsynonymous SNV K576E 0.011 0.016 0.027 10 13 6 0.026 8 0 0 1 0 Benign 0.829 37992 chr2 179325735 179325735 C T rs17304212 PJVK Nonsynonymous SNV R267C 0.076 0.076 0.078 37 89 29 0.095 23 5 2 1 2 Benign 34 37993 chr1 227935762 227935762 G A rs2236358 SNAP47 Nonsynonymous SNV V109M 0.041 0.039 0.054 23 48 15 0.059 16 1 0 1 0 13.77 37994 chr1 197070498 197070498 G A rs61819076 ASPM Nonsynonymous SNV A2628V 0.003 0 0 0 4 0 0 0 0 0 0 0 27.5 37995 chr1 234895130 234895130 T C rs114657346 PP2672 0.054 0.049 0 30 63 19 0.077 0 2 0 0 0 2.297 37996 chr2 179395067 179395067 C G rs56207956 TTN Synonymous SNV G26360G 0.083 0.083 0.099 41 98 32 0.105 29 5 2 2 2 Benign/Likely benign 16.82 37997 chr1 235944346 235944346 A G rs151337641 LYST Nonsynonymous SNV V1678A 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Uncertain significance 24 37998 chr2 179436257 179436257 T G TTN Nonsynonymous SNV I15803L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.1 37999 chr1 228113046 228113046 C T rs8192629 WNT9A Synonymous SNV A90A 0.063 0.089 0.068 35 74 34 0.09 20 1 1 1 2 13.98 38000 chr1 228284991 228284991 C T rs2070960 MIR3620 0.038 0.06 0.051 19 45 23 0.049 15 0 0 0 1 0.412 38001 chr1 22155353 22155353 G A rs74859884 HSPG2 Nonsynonymous SNV A4072V 0.023 0.047 0.031 11 27 18 0.028 9 1 0 0 0 Benign 21.6 38002 chr1 228335125 228335125 C T rs1803695 GUK1 Synonymous SNV A111A 0.023 0.039 0.027 15 27 15 0.038 8 0 0 0 0 15.58 38003 chr11 3140787 3140787 G A rs755435331 OSBPL5 Synonymous SNV S159S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 14.13 38004 chr2 179613538 179613538 A C rs200066725 TTN Nonsynonymous SNV I4530R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.392 38005 chr1 228399799 228399799 C T rs11582369 OBSCN Synonymous SNV C105C 0.037 0.052 0.017 16 43 20 0.041 5 0 0 0 0 4.269 38006 chr1 236212038 236212038 G A rs6665008 NID1 Synonymous SNV S159S 0.122 0.151 0.109 60 143 58 0.154 32 9 1 3 3 Benign 12.58 38007 chr2 17962005 17962005 C G rs150586336 GEN1 Nonsynonymous SNV S509W 0 0 0.003 3 0 0 0.008 1 0 0 0 0 7.898 38008 chr1 223286191 223286191 G A rs5744165 TLR5 Synonymous SNV V61V 0.03 0.031 0.041 12 35 12 0.031 12 0 0 1 1 3.497 38009 chr1 19950062 19950062 T C rs1737428 MICOS10 Synonymous SNV H53H 0.159 0.167 0.153 64 187 64 0.164 45 17 5 4 3 0.181 38010 chr10 118443312 118443312 C A rs41284380 HSPA12A Synonymous SNV G275G 0.05 0.065 0.034 14 59 25 0.036 10 0 3 0 0 18.89 38011 chr1 228451826 228451826 C T rs453140 OBSCN Nonsynonymous SNV A1532V 0.227 0.198 0.238 103 266 76 0.264 70 28 9 5 19 6.186 38012 chr1 223933061 223933061 C T rs17597 CAPN2 Synonymous SNV T82T 0.095 0.102 0.095 31 111 39 0.079 28 3 2 1 1 14.25 38013 chr1 223933079 223933079 C T rs17598 CAPN2 Synonymous SNV L88L 0.107 0.107 0.112 33 126 41 0.085 33 5 2 2 1 15.13 38014 chr1 228461239 228461239 C T rs189809636 OBSCN Nonsynonymous SNV H2085Y 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 3.167 38015 chr1 208391085 208391085 G A rs12120681 PLXNA2 Synonymous SNV A61A 0.176 0.159 0.126 74 207 61 0.19 37 14 3 1 7 5.502 38016 chr1 236706278 236706278 G T rs2273863 LGALS8 Nonsynonymous SNV D205Y 0.06 0.049 0.061 22 70 19 0.056 18 2 0 0 2 23.4 38017 chr1 223991119 223991119 G T rs34683843 TP53BP2 Nonsynonymous SNV Q229K 0.09 0.099 0.092 31 106 38 0.079 27 4 2 2 1 28.9 38018 chr1 236706300 236706300 T A rs2273865 LGALS8 Stop gain L212X 0.06 0.049 0.061 22 70 19 0.056 18 2 0 0 2 36 38019 chr1 201012484 201012484 C T rs13374149 CACNA1S Nonsynonymous SNV R1658H 0.048 0.065 0.065 20 56 25 0.051 19 0 1 0 0 Benign 23.2 38020 chr1 22846610 22846610 G C rs892496369 ZBTB40 Nonsynonymous SNV D852H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.9 38021 chr1 181003160 181003160 C T rs201173602 MR1 Nonsynonymous SNV A6V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.033 38022 chr2 179914640 179914640 G A rs61397643 CCDC141 Nonsynonymous SNV A10V 0.114 0.117 0.143 36 134 45 0.092 42 7 1 0 1 3.47 38023 chr1 201022376 201022376 G A rs56183942 CACNA1S Synonymous SNV I1274I 0.025 0.018 0.031 13 29 7 0.033 9 0 0 0 0 Benign 18.94 38024 chr1 201035071 201035071 G A rs2297902 CACNA1S Synonymous SNV H916H 0.024 0.023 0.034 10 28 9 0.026 10 1 0 0 0 Benign 13.46 38025 chr1 20005528 20005528 G A rs149152488 HTR6 Synonymous SNV A330A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.15 38026 chr1 228468458 228468458 G A rs1188697 OBSCN Nonsynonymous SNV V2720M 0.256 0.234 0.259 114 301 90 0.292 76 38 11 8 25 13.7 38027 chr1 222802822 222802822 T A rs200192078 MIA3 Nonsynonymous SNV F754I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.95 38028 chr1 228475848 228475848 G A rs437129 OBSCN Nonsynonymous SNV A3300T 0.255 0.24 0.255 114 299 92 0.292 75 38 10 8 25 23.7 38029 chr1 200801464 200801464 T C rs377378492 CAMSAP2 Nonsynonymous SNV L261S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 38030 chr1 225463772 225463772 A G rs581675 DNAH14 Nonsynonymous SNV I2723V 0.099 0.112 0.065 38 116 43 0.097 19 2 1 2 2 1.159 38031 chr1 200965423 200965423 G A rs147583380 KIF21B Synonymous SNV A726A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.56 38032 chr1 225511930 225511930 G A rs531421607 DNAH14 Nonsynonymous SNV V3168M 0.007 0 0 3 8 0 0.008 0 0 0 0 0 0.321 38033 chr1 236722318 236722318 T C rs115054974 HEATR1 Nonsynonymous SNV N1630D 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 7.764 38034 chr1 236723108 236723108 C T rs6661946 HEATR1 Nonsynonymous SNV S1559N 0.06 0.049 0.068 23 71 19 0.059 20 2 0 0 2 2.861 38035 chr1 236729965 236729965 G A rs61736343 HEATR1 Nonsynonymous SNV A1430V 0.045 0.031 0.037 14 53 12 0.036 11 2 0 0 0 15.87 38036 chr2 183594621 183594621 G C rs61748252 DNAJC10 Nonsynonymous SNV S227T 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 12.08 38037 chr1 211533352 211533352 A G rs2230779 TRAF5 Synonymous SNV A159A 0.103 0.109 0.085 37 121 42 0.095 25 7 3 1 2 12.36 38038 chr2 183616398 183616398 A G rs61748253 DNAJC10 Synonymous SNV L394L 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 9.444 38039 chr1 211836789 211836789 T C rs12031285 NEK2 Synonymous SNV R439R 0.203 0.182 0.204 85 238 70 0.218 60 25 8 6 9 Benign 5.095 38040 chr1 236748397 236748397 A G rs41304149 HEATR1 Synonymous SNV F723F 0.045 0.034 0.037 15 53 13 0.038 11 2 0 0 0 9.235 38041 chr1 211840498 211840498 T C rs2230489 NEK2 Nonsynonymous SNV N354S 0.104 0.094 0.133 46 122 36 0.118 39 8 3 1 3 13.95 38042 chr1 228506912 228506912 T C rs188302055 OBSCN Nonsynonymous SNV L4820P 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 Benign 26.6 38043 chr2 183699584 183699584 G C rs7775 FRZB Nonsynonymous SNV R324G 0.128 0.174 0.143 45 150 67 0.115 42 11 4 4 2 risk factor 22.7 38044 chr2 183703336 183703336 G A rs288326 FRZB Nonsynonymous SNV R200W 0.122 0.13 0.105 48 143 50 0.123 31 13 4 1 6 risk factor 34 38045 chr1 236750709 236750709 C T rs56242514 HEATR1 Nonsynonymous SNV G570R 0.039 0.031 0.034 15 46 12 0.038 10 2 0 0 0 10.27 38046 chr2 183731193 183731193 C A rs36077496 FRZB Nonsynonymous SNV A30S 0.05 0.031 0.054 19 59 12 0.049 16 2 0 1 0 15.71 38047 chr1 212273797 212273797 G A rs116830651 DTL Nonsynonymous SNV V218I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.905 38048 chr1 228520995 228520995 G A rs56015866 OBSCN Nonsynonymous SNV R5276H 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 Benign 23.7 38049 chr2 1842968 1842968 T A rs6728368 MYT1L Synonymous SNV G1011G 0.049 0.065 0.048 24 57 25 0.062 14 1 1 0 1 8.868 38050 chr2 185801559 185801559 A G rs35676856 ZNF804A Nonsynonymous SNV D479G 0.079 0.083 0.126 34 93 32 0.087 37 1 1 3 3 0.034 38051 chr1 236767288 236767288 C T rs16834056 HEATR1 Synonymous SNV A36A 0.045 0.034 0.031 15 53 13 0.038 9 2 0 0 0 21.9 38052 chr2 185801597 185801597 A G rs61739290 ZNF804A Nonsynonymous SNV I492V 0.079 0.083 0.126 34 93 32 0.087 37 1 1 3 3 0.022 38053 chr2 185801756 185801756 G A rs61739288 ZNF804A Nonsynonymous SNV G545S 0.078 0.083 0.122 33 91 32 0.085 36 2 1 3 3 Benign 0.027 38054 chr1 183532580 183532580 G T rs17849502 NCF2 Nonsynonymous SNV H308Q 0.041 0.036 0.044 19 48 14 0.049 13 2 0 0 1 Benign/Likely benign 23 38055 chr1 20141283 20141283 C T rs1541184 RNF186 Synonymous SNV A104A 0.053 0.052 0.017 17 62 20 0.044 5 0 1 0 1 10.44 38056 chr1 201177074 201177074 G T IGFN1 Nonsynonymous SNV G1018V 0 0 0 0 0 0 0 0 0 0 0 0 22.7 38057 chr1 225707034 225707051 TCCAGGCGTTCCTGCCGC - rs566336314 ENAH E217_L222del 0.141 0.133 0.02 59 166 51 0.151 6 11 4 0 3 38058 chr1 183542323 183542323 C T rs17849501 NCF2 Synonymous SNV A157A 0.041 0.036 0.044 20 48 14 0.051 13 2 0 0 1 Benign/Likely benign 16.53 38059 chr1 226108200 226108200 C T rs73131849 PYCR2 Synonymous SNV G232G 0.158 0.169 0.177 56 186 65 0.144 52 17 5 6 6 13.03 38060 chr2 185803445 185803445 G A rs112183442 ZNF804A Nonsynonymous SNV A1108T 0.032 0.039 0.031 20 38 15 0.051 9 0 0 0 1 25 38061 chr1 201178965 201178965 - GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG IGFN1 S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS 0.026 0.036 0.017 5 30 14 0.013 5 0 0 0 0 38062 chr1 226421195 226421195 T C rs144086241 LIN9 Synonymous SNV A332A 0.012 0 0.01 7 14 0 0.018 3 0 0 1 0 Benign 6.753 38063 chr10 124812607 124812607 G A rs188094280 ACADSB Nonsynonymous SNV E285K 0.009 0.013 0 6 11 5 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 38064 chr1 228871693 228871693 C T rs3738073 RHOU Synonymous SNV S68S 0.191 0.208 0.17 74 224 80 0.19 50 16 10 4 6 10.45 38065 chr1 237841390 237841390 A G rs34967813 RYR2 Nonsynonymous SNV Q2958R 0.248 0.245 0.238 99 291 94 0.254 70 40 9 10 16 Benign/Likely benign 18.59 38066 chr1 226923798 226923798 C T ITPKB Synonymous SNV G454G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.65 38067 chr11 5080359 5080359 G A rs11035396 OR52E2 Nonsynonymous SNV R167W 0.078 0.083 0.088 34 92 32 0.087 26 4 2 0 0 14.02 38068 chr2 186660810 186660810 G A rs142675481 FSIP2 Nonsynonymous SNV G2983S 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 Benign 0.001 38069 chr1 201282573 201282573 A G rs35507614 PKP1 Nonsynonymous SNV I196V 0.083 0.068 0.095 25 98 26 0.064 28 5 1 1 0 Benign 0.001 38070 chr1 20220960 20220960 C G OTUD3 Nonsynonymous SNV A157G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 38071 chr1 214787214 214787214 T G rs746591240 CENPF Nonsynonymous SNV F39L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 38072 chr1 24082401 24082401 C T rs35273670 ELOA Synonymous SNV P646P 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Benign 17.32 38073 chr1 227920357 227920357 C T rs4837 JMJD4 Synonymous SNV S360S 0.145 0.164 0.122 56 170 63 0.144 36 12 2 2 3 17.15 38074 chr2 186668935 186668935 A G rs13003744 FSIP2 Nonsynonymous SNV M4968V 0.378 0.409 0.415 156 444 157 0.4 122 80 32 23 30 0.001 38075 chr1 227954677 227954677 C T rs17851681 SNAP47 Nonsynonymous SNV R336C 0.144 0.159 0.116 52 169 61 0.133 34 12 2 2 2 16.1 38076 chr1 185278176 185278176 T C rs139483777 IVNS1ABP Synonymous SNV P80P 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 7.633 38077 chr1 185951470 185951470 G C rs35576281 HMCN1 Synonymous SNV L913L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 9.693 38078 chr1 185956648 185956648 A T rs34460141 HMCN1 Nonsynonymous SNV N1007I 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 9.345 38079 chr11 5344592 5344592 A C rs11036814 OR51B2 Nonsynonymous SNV S312R 0.17 0.172 0.163 62 199 66 0.159 48 18 10 3 3 15.78 38080 chr1 228336425 228336425 G A rs72756242 GUK1 Nonsynonymous SNV G200R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.34 38081 chr1 202976613 202976613 C T rs555362119 TMEM183A Nonsynonymous SNV P7L 0.009 0.008 0.014 2 11 3 0.005 4 0 0 0 0 21.1 38082 chr1 232941390 232941390 C G rs2814526 MAP10 Synonymous SNV P207P 0.07 0.076 0.071 28 82 29 0.072 21 3 2 1 0 14.12 38083 chr2 18757501 18757501 G C rs3902946 NT5C1B, NT5C1B-RDH14 Synonymous SNV L428L 0.248 0.281 0.218 105 291 108 0.269 64 38 19 7 13 4.601 38084 chr1 225707230 225707230 G A rs535035689 ENAH Nonsynonymous SNV R158W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 38085 chr2 18768850 18768850 A G rs16985306 NT5C1B, NT5C1B-RDH14 Synonymous SNV P13P 0.248 0.279 0.218 103 291 107 0.264 64 35 18 7 12 0.007 38086 chr1 228404198 228404198 G A rs61501937 OBSCN Synonymous SNV A724A 0.042 0.047 0.017 17 49 18 0.044 5 0 0 0 0 13.53 38087 chr2 187692908 187692908 T G rs17852916 ZSWIM2 Synonymous SNV R569R 0.088 0.089 0.078 30 103 34 0.077 23 7 2 0 0 0.018 38088 chr2 187692983 187692983 T C rs17856918 ZSWIM2 Nonsynonymous SNV M544V 0.089 0.091 0.082 31 105 35 0.079 24 7 2 0 0 0.001 38089 chr2 187693003 187693003 A T rs10195632 ZSWIM2 Nonsynonymous SNV F537Y 0.089 0.091 0.082 31 105 35 0.079 24 7 2 0 0 0.002 38090 chr1 242042454 242042454 C T rs61736331 EXO1 Nonsynonymous SNV P640S 0.009 0.013 0.02 2 10 5 0.005 6 0 0 0 0 7.353 38091 chr2 187693044 187693044 C T rs17852915 ZSWIM2 Synonymous SNV V523V 0.089 0.091 0.082 31 105 35 0.079 24 7 2 0 0 6.996 38092 chr2 187693104 187693104 C T rs10172225 ZSWIM2 Synonymous SNV V503V 0.089 0.091 0.082 31 105 35 0.079 24 7 2 0 0 6.622 38093 chr1 186114957 186114957 G A rs752242653 HMCN1 Nonsynonymous SNV R4837Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 34 38094 chr2 187698707 187698707 C T rs6434197 ZSWIM2 Nonsynonymous SNV C265Y 0.089 0.091 0.082 31 105 35 0.079 24 7 2 0 0 5.207 38095 chr1 203194834 203194834 C T rs137852607 CHIT1 Nonsynonymous SNV E74K 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.76 38096 chr2 1893049 1893049 G A rs71442304 MYT1L Synonymous SNV P828P 0.025 0.029 0.048 13 29 11 0.033 14 0 0 0 0 9.951 38097 chr1 216692741 216692741 C T rs10863247 ESRRG Synonymous SNV A44A 0.006 0.003 0.014 1 7 1 0.003 4 0 0 1 0 13.75 38098 chr1 202249949 202249949 A G rs758435185 LGR6 Nonsynonymous SNV S229G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.11 38099 chr10 131964784 131964784 G A rs34458027 GLRX3 Synonymous SNV Q164Q 0.03 0.036 0.027 9 35 14 0.023 8 2 0 1 0 Benign 10.29 38100 chr1 203798598 203798598 T C ZC3H11A Synonymous SNV P106P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.749 38101 chr1 227348245 227348245 G A rs34614709 CDC42BPA Nonsynonymous SNV T231M 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 31 38102 chr2 190670539 190670539 - A rs3214425 PMS1 Frameshift insertion L164Vfs*4 0.181 0.203 0.167 82 213 78 0.21 49 13 3 3 4 38103 chr1 236141174 236141174 T C rs3213190 NID1 Nonsynonymous SNV Q1246R 0.16 0.146 0.136 56 188 56 0.144 40 17 4 5 3 9.458 38104 chr2 191301368 191301368 A G rs9646748 MFSD6 Nonsynonymous SNV R205G 0.454 0.417 0.452 166 533 160 0.426 133 129 32 28 34 0.307 38105 chr1 228290741 228290741 A G rs759904680 C1orf35 Nonsynonymous SNV L35P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 38106 chr1 236144951 236144951 A G rs3738525 NID1 Synonymous SNV L1063L 0.149 0.141 0.129 56 175 54 0.144 38 13 4 5 3 2.953 38107 chr2 191399378 191399378 C G rs13412879 NEMP2 Nonsynonymous SNV G2R 0.223 0.174 0.207 87 262 67 0.223 61 36 3 5 11 0.003 38108 chr2 191851646 191851646 C T rs41270237 STAT1 Synonymous SNV T385T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 11.89 38109 chr1 245530282 245530282 G A rs61734839 KIF26B Synonymous SNV T204T 0.043 0.06 0.034 15 50 23 0.038 10 1 2 0 0 7.495 38110 chr2 192701407 192701407 G C rs61735649 CAVIN2 Nonsynonymous SNV Q174E 0.064 0.099 0.075 21 75 38 0.054 22 6 2 0 1 0.4 38111 chr10 134659626 134659626 A G rs10870341 CFAP46 Nonsynonymous SNV C2125R 0.132 0.115 0.065 44 155 44 0.113 19 16 3 4 4 0.001 38112 chr1 245849969 245849969 C T rs116468848 KIF26B Synonymous SNV P1228P 0.062 0.057 0.078 29 73 22 0.074 23 0 0 1 1 12.65 38113 chr1 228494200 228494200 G T OBSCN Synonymous SNV L3929L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.544 38114 chr1 228526578 228526578 T A rs144372515 OBSCN Nonsynonymous SNV S5703R 0.011 0.018 0.01 7 13 7 0.018 3 0 0 0 0 Benign 24.9 38115 chr10 134750538 134750538 C T rs146174575 CFAP46 Nonsynonymous SNV E228K 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 1.026 38116 chr2 196738365 196738365 T C rs75859635 DNAH7 Nonsynonymous SNV T2114A 0.041 0.052 0.058 19 48 20 0.049 17 0 1 0 0 Benign 16.63 38117 chr1 228547769 228547769 C T rs151322036 OBSCN Synonymous SNV V6392V 0.011 0.021 0.014 7 13 8 0.018 4 0 0 0 0 6.469 38118 chr10 134940779 134940779 G C rs11101941 ADGRA1 Synonymous SNV G51G 0.006 0.008 0.003 6 7 3 0.015 1 0 0 0 0 0.771 38119 chr1 246021851 246021851 G A rs34527613 SMYD3 Synonymous SNV L341L 0.043 0.052 0.051 13 50 20 0.033 15 2 0 0 0 12.18 38120 chr1 204924020 204924020 C T rs3795564 NFASC Nonsynonymous SNV T153M 0.007 0.003 0.017 2 8 1 0.005 5 0 0 0 0 Benign 32 38121 chr1 193074511 193074511 A G rs148212596 GLRX2 Star tloss M1? 0.013 0.021 0.007 4 15 8 0.01 2 0 0 0 0 7.959 38122 chr1 228554849 228554849 G C rs202218619 OBSCN Nonsynonymous SNV R6534P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 38123 chr2 196837129 196837129 G C rs73042525 DNAH7 Nonsynonymous SNV S632C 0.044 0.052 0.065 21 52 20 0.054 19 0 1 0 0 14.57 38124 chr1 204944441 204944441 G A rs56223230 NFASC Nonsynonymous SNV R545K 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 Benign 4.974 38125 chr1 204944454 204944454 G A rs55969362 NFASC Synonymous SNV T549T 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 Benign 15.96 38126 chr2 197183367 197183367 A G rs143361492 HECW2 Synonymous SNV A393A 0.02 0.016 0.017 8 23 6 0.021 5 0 0 0 0 Benign 3.186 38127 chr1 24669457 24669457 C T rs41268753 GRHL3 Nonsynonymous SNV T408M 0.024 0.021 0.007 9 28 8 0.023 2 0 0 0 0 Benign 29.6 38128 chr1 204944536 204944536 A G rs55778126 NFASC Nonsynonymous SNV I577V 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 Benign 3.61 38129 chr2 197629320 197629320 A G rs61741430 GTF3C3 Synonymous SNV A876A 0.027 0.029 0.054 16 32 11 0.041 16 0 1 2 1 3.055 38130 chr1 246707858 246707858 A G rs3129568 TFB2M Synonymous SNV F328F 0.362 0.323 0.238 127 425 124 0.326 70 90 25 16 24 6.2 38131 chr1 204945814 204945814 C T rs55726173 NFASC Synonymous SNV D585D 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 Benign 13.97 38132 chr1 246922390 246922390 A G rs1127098 SCCPDH Synonymous SNV G250G 0.026 0.049 0.048 10 30 19 0.026 14 1 0 0 1 11.46 38133 chr1 22923873 22923873 G C rs999765 EPHA8 Nonsynonymous SNV E612Q 0.109 0.12 0.088 25 128 46 0.064 26 4 2 2 0 19.32 38134 chr1 19566957 19566957 G A rs16862640 EMC1-AS1 0.025 0.026 0.017 15 29 10 0.038 5 1 0 0 1 4.221 38135 chr1 229787030 229787030 G A rs12142450 URB2 Nonsynonymous SNV V1400M 0.016 0.018 0.01 4 19 7 0.01 3 0 0 0 0 Benign 25.8 38136 chr2 201334686 201334686 G A rs200772751 SPATS2L Nonsynonymous SNV R267Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 38137 chr11 5529920 5529920 G C rs2234451 UBQLN3 Nonsynonymous SNV T290S 0.017 0.005 0.027 3 20 2 0.008 8 1 0 1 0 0.001 38138 chr1 223116240 223116240 G A rs61746477 DISP1 Synonymous SNV P25P 0.053 0.078 0.078 28 62 30 0.072 23 1 1 2 1 Benign 1.451 38139 chr1 228698311 228698311 C A rs115476782 BTNL10 Nonsynonymous SNV A126S 0.062 0.055 0.054 23 73 21 0.059 16 2 1 1 1 7.056 38140 chr10 135165623 135165623 G A rs34780987 PRAP1 Nonsynonymous SNV G81S 0.014 0.026 0.014 7 17 10 0.018 4 0 0 0 0 22.6 38141 chr1 19615051 19615051 C G rs201237444 AKR7A3 Nonsynonymous SNV E51D 0 0.005 0 0 0 2 0 0 0 0 0 0 0.126 38142 chr2 201437048 201437048 A G rs17532665 SGO2 Nonsynonymous SNV N660S 0.101 0.089 0.126 53 118 34 0.136 37 6 1 1 8 12.47 38143 chr1 19615062 19615062 C G rs199504000 AKR7A3 Nonsynonymous SNV V48L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.08 38144 chr1 230895340 230895340 C A rs28359608 CAPN9 Nonsynonymous SNV S122R 0.174 0.164 0.099 51 204 63 0.131 29 21 2 2 4 21.7 38145 chr1 1961512 1961512 C T rs79386457 GABRD Nonsynonymous SNV P384S 0.003 0.008 0.014 2 3 3 0.005 4 0 0 0 0 Likely benign 5.887 38146 chr2 20202929 20202929 C T rs28452699 MATN3 Synonymous SNV T303T 0.19 0.211 0.207 91 223 81 0.233 61 17 6 5 11 Benign 17.43 38147 chr1 22920094 22920094 C G rs56157621 EPHA8 Synonymous SNV T506T 0.069 0.065 0.051 26 81 25 0.067 15 4 1 0 1 4.933 38148 chr1 22920100 22920100 C T rs55964751 EPHA8 Synonymous SNV Y508Y 0.017 0.01 0.01 7 20 4 0.018 3 0 0 0 0 Benign 10.4 38149 chr1 19632578 19632578 A C rs776870978 AKR7A2 Stop gain Y249X 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 35 38150 chr1 230916260 230916260 C T rs28359687 CAPN9 Synonymous SNV D366D 0.141 0.125 0.153 63 166 48 0.162 45 17 4 7 3 11.31 38151 chr1 23689083 23689083 G A rs3795308 ZNF436 Synonymous SNV H246H 0.083 0.094 0.102 38 97 36 0.097 30 5 3 0 1 2.14 38152 chr1 247588858 247588858 C A rs35829419 NLRP3 Nonsynonymous SNV Q705K 0.078 0.065 0.034 39 91 25 0.1 10 4 3 1 1 Conflicting interpretations of pathogenicity 0.01 38153 chr1 229599414 229599414 C T rs35944758 NUP133 Nonsynonymous SNV G854D 0.014 0.01 0.01 4 16 4 0.01 3 0 0 0 0 33 38154 chr1 23761028 23761028 G A rs74415268 ASAP3 Synonymous SNV N602N 0.066 0.065 0.075 24 77 25 0.062 22 2 0 3 2 6.181 38155 chr1 231097042 231097042 G A rs11122162 TTC13 Synonymous SNV S93S 0.028 0.042 0.027 8 33 16 0.021 8 0 0 0 1 10.36 38156 chr1 224377724 224377724 C T rs6686449 DEGS1 Synonymous SNV F176F 0.027 0.052 0.027 17 32 20 0.044 8 1 0 0 0 11.56 38157 chr1 237655173 237655173 A T rs72549414 RYR2 Synonymous SNV G592G 0.022 0.023 0.027 10 26 9 0.026 8 1 0 1 0 Benign 2.987 38158 chr1 23767669 23767669 A G rs12117542 ASAP3 Synonymous SNV Y281Y 0.067 0.065 0.075 24 79 25 0.062 22 2 0 3 2 6.807 38159 chr1 204985634 204985634 G A rs143897854 NFASC Synonymous SNV T1052T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 14.03 38160 chr1 206225011 206225011 G C rs33990840 AVPR1B Nonsynonymous SNV G191R 0.072 0.083 0.102 32 84 32 0.082 30 3 2 2 0 15.89 38161 chr1 247751731 247751731 C G rs12737801 OR2G2 Nonsynonymous SNV P24A 0.144 0.182 0.139 57 169 70 0.146 41 12 2 1 4 23.9 38162 chr1 232534957 232534957 T C rs12043251 SIPA1L2 Synonymous SNV R1695R 0.24 0.242 0.272 88 282 93 0.226 80 32 7 11 16 8.438 38163 chr2 202580514 202580514 C T rs34946105 ALS2 Synonymous SNV A1295A 0.064 0.063 0.054 18 75 24 0.046 16 2 1 1 0 Benign/Likely benign 17.62 38164 chr1 232596728 232596728 G A rs74807360 SIPA1L2 Synonymous SNV A1000A 0.095 0.089 0.119 41 111 34 0.105 35 4 2 1 0 10.82 38165 chr2 202593280 202593280 G A rs3219161 ALS2 Synonymous SNV S932S 0.072 0.078 0.048 38 85 30 0.097 14 4 1 0 1 Benign 15.03 38166 chr1 232650683 232650683 C T rs779583701 SIPA1L2 Nonsynonymous SNV V135M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 38167 chr1 230384937 230384937 T C rs3748006 GALNT2 Synonymous SNV D237D 0.049 0.06 0.037 19 57 23 0.049 11 1 0 0 1 4.372 38168 chr1 230415148 230415148 G A rs2273970 GALNT2 Nonsynonymous SNV V516M 0.056 0.049 0.044 20 66 19 0.051 13 0 0 0 1 20.6 38169 chr1 241712134 241712134 C T rs11556464 KMO Synonymous SNV G20G 0.247 0.258 0.357 96 290 99 0.246 105 64 24 15 21 9.027 38170 chr1 247769062 247769062 A G rs61748963 OR2G3 Nonsynonymous SNV M59V 0.142 0.19 0.122 59 167 73 0.151 36 11 6 0 5 14.32 38171 chr1 206757857 206757857 C A rs4845112 RASSF5 Synonymous SNV R124R 0.055 0.047 0.044 11 64 18 0.028 13 4 0 0 0 22.2 38172 chr1 2418625 2418625 C T rs7512269 PLCH2 Synonymous SNV Y281Y 0.095 0.073 0.088 28 112 28 0.072 26 6 0 0 1 0.466 38173 chr1 247835779 247835779 C G rs56096718 OR13G1 Nonsynonymous SNV V189L 0.085 0.086 0.058 19 100 33 0.049 17 3 0 0 0 19.09 38174 chr11 5730343 5730343 G A rs12364019 TRIM22 Nonsynonymous SNV R317K 0.041 0.052 0.065 31 48 20 0.079 19 1 1 1 1 25 38175 chr1 242035382 242035382 C T rs4149963 EXO1 Nonsynonymous SNV T439M 0.049 0.057 0.068 28 57 22 0.072 20 0 2 0 2 20.2 38176 chr1 247875314 247875314 C A rs41268353 OR6F1 Synonymous SNV V248V 0.104 0.115 0.078 36 122 44 0.092 23 5 0 1 2 8.981 38177 chr1 247875415 247875415 A G rs2282316 OR6F1 Nonsynonymous SNV F215L 0.296 0.284 0.224 104 347 109 0.267 66 48 14 6 7 0.002 38178 chr2 205986321 205986321 A G rs2289023 PARD3B Synonymous SNV Q271Q 0.263 0.237 0.259 123 309 91 0.315 76 40 11 9 17 0.153 38179 chr1 247875608 247875608 C G rs6587382 OR6F1 Synonymous SNV V150V 0.324 0.305 0.235 113 380 117 0.29 69 59 16 5 11 1.53 38180 chr1 247875689 247875689 A G rs7512807 OR6F1 Synonymous SNV C123C 0.17 0.203 0.139 61 199 78 0.156 41 12 5 2 4 0.011 38181 chr1 247921412 247921412 G C rs41304163 OR1C1 Synonymous SNV T99T 0.085 0.094 0.065 32 100 36 0.082 19 4 0 1 2 0.009 38182 chr2 207003230 207003230 C T rs2230892 NDUFS1 Synonymous SNV S346S 0.027 0.008 0.02 5 32 3 0.013 6 1 0 0 0 Conflicting interpretations of pathogenicity 17.37 38183 chr1 234565176 234565176 C T rs111283864 TARBP1 Nonsynonymous SNV V953M 0.062 0.042 0.041 27 73 16 0.069 12 4 0 0 0 16.75 38184 chr1 207653364 207653364 A G rs17618 CR2 Nonsynonymous SNV I993V 0.088 0.094 0.095 41 103 36 0.105 28 3 2 2 2 Benign 0.002 38185 chr1 234582720 234582720 C T rs139816698 TARBP1 Nonsynonymous SNV G655R 0.062 0.042 0.041 28 73 16 0.072 12 4 0 0 0 22.3 38186 chr1 2436256 2436256 G A rs138038983 PLCH2 Synonymous SNV G1285G 0.05 0.036 0.024 22 59 14 0.056 7 0 0 0 2 1.136 38187 chr1 206650065 206650065 A G rs41296034 IKBKE Synonymous SNV Q110Q 0.023 0.036 0.017 12 27 14 0.031 5 0 0 0 0 0.545 38188 chr1 234584288 234584288 G A rs114916639 TARBP1 Synonymous SNV A633A 0.061 0.042 0.041 27 72 16 0.069 12 4 0 0 0 13.2 38189 chr1 234744250 234744250 G A rs8722 IRF2BP2 Synonymous SNV L331L 0.221 0.273 0.156 85 260 105 0.218 46 26 11 4 9 Benign 6.727 38190 chr1 24413146 24413146 G A rs373823143 MYOM3 Nonsynonymous SNV R596W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 38191 chr1 234744889 234744889 G A rs148187914 IRF2BP2 Nonsynonymous SNV P118S 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 Benign 12.54 38192 chr11 397063 397063 C A rs113852684 PKP3 Nonsynonymous SNV P188T 0.013 0.021 0.017 10 15 8 0.026 5 0 0 0 1 0.001 38193 chr2 208031167 208031167 G A rs6717413 MIR7845 0 0 0.463 0 0 0 0 136 0 0 42 0 12.47 38194 chr1 207133035 207133035 C T rs201047919 FCAMR Nonsynonymous SNV E254K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 38195 chr1 201177902 201177902 C T rs373845532 IGFN1 Nonsynonymous SNV A1294V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.06 38196 chr2 208478055 208478055 A G rs17520056 METTL21A Synonymous SNV T124T 0.279 0.281 0.282 87 327 108 0.223 83 42 15 13 10 5.285 38197 chr1 24418800 24418800 C T rs199675940 MYOM3 Nonsynonymous SNV E366K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.913 38198 chr1 236175327 236175327 C A rs3738531 NID1 Nonsynonymous SNV Q807H 0.095 0.107 0.116 28 112 41 0.072 34 2 2 3 1 23.1 38199 chr2 208576731 208576731 C T rs61747448 CCNYL1 Synonymous SNV S37S 0.022 0.026 0.017 8 26 10 0.021 5 1 0 0 1 16.42 38200 chr1 20977166 20977166 A G rs149994404 PINK1 Synonymous SNV S576S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 13.79 38201 chr1 227171484 227171484 C T rs17849927 COQ8A Synonymous SNV I395I 0.011 0.003 0.003 2 13 1 0.005 1 0 0 0 0 Benign/Likely benign 17.47 38202 chr1 24434973 24434973 G A rs762184862 MYOM3 Nonsynonymous SNV R52C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.7 38203 chr1 208225674 208225674 G A rs41283120 PLXNA2 Synonymous SNV Y997Y 0.06 0.047 0.048 18 71 18 0.046 14 0 0 1 0 1.433 38204 chr1 201180222 201180222 G A rs28465285 IGFN1 Synonymous SNV E2067E 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 1.536 38205 chr1 248084471 248084471 A G rs149623571 OR2T8 Nonsynonymous SNV H51R 0.136 0.125 0.163 56 160 48 0.144 48 4 2 4 4 0.002 38206 chr1 245027349 245027349 C T rs6675421 HNRNPU Synonymous SNV E87E 0.204 0.229 0.241 80 240 88 0.205 71 19 10 10 9 Benign 12.23 38207 chr1 201180243 201180243 A G rs367952435 IGFN1 Synonymous SNV L2074L 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.094 38208 chr2 209120640 209120640 C T rs1446325 IDH1-AS1 0 0 0.98 0 0 0 0 288 0 0 143 0 2.46 38209 chr1 201180273 201180273 T C rs745733196 IGFN1 Synonymous SNV S2084S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.064 38210 chr1 248084473 248084473 C A rs143274587 OR2T8 Synonymous SNV R52R 0.115 0.115 0.15 51 135 44 0.131 44 2 2 3 4 13.87 38211 chr1 201180277 201180277 A G rs1772839 IGFN1 Nonsynonymous SNV T2086A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.18 38212 chr1 248084511 248084511 T C rs41315864 OR2T8 Synonymous SNV L64L 0.135 0.107 0.051 47 159 41 0.121 15 20 2 0 7 0.002 38213 chr1 227923127 227923127 G A rs148036666 SNAP47 Nonsynonymous SNV R6H 0.016 0.023 0.024 10 19 9 0.026 7 1 0 0 0 7.872 38214 chr1 201180285 201180285 C T rs768472694 IGFN1 Synonymous SNV F2088F 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 3.416 38215 chr1 245704130 245704130 G C rs61754898 KIF26B Nonsynonymous SNV A410P 0.112 0.109 0.136 46 131 42 0.118 40 3 2 1 1 1.219 38216 chr1 236702374 236702374 G C rs2472126 LGALS8 Synonymous SNV L110L 0.042 0.044 0.041 13 49 17 0.033 12 0 2 1 0 2.227 38217 chr1 245772651 245772651 C G rs61754955 KIF26B Nonsynonymous SNV L579V 0.018 0.018 0.003 8 21 7 0.021 1 0 0 0 0 23.2 38218 chr1 234744644 234744644 C T rs759578860 IRF2BP2 Synonymous SNV L199L 0.006 0 0 2 7 0 0.005 0 0 0 0 0 1.158 38219 chr1 21031042 21031042 T C rs2296225 KIF17 Nonsynonymous SNV I341V 0.078 0.076 0.068 43 91 29 0.11 20 6 0 3 1 12.53 38220 chr1 23519633 23519633 A G rs6300 HTR1D Synonymous SNV N360N 0.086 0.091 0.095 27 101 35 0.069 28 6 0 2 2 0.209 38221 chr1 245772692 245772692 A C rs61755865 KIF26B Synonymous SNV S592S 0.018 0.018 0.003 8 21 7 0.021 1 0 0 0 0 0.002 38222 chr11 554018 554018 G A rs112033363 LRRC56 Synonymous SNV R457R 0.048 0.073 0.058 22 56 28 0.056 17 1 3 0 0 8.359 38223 chr1 235599717 235599717 C T rs941572631 TBCE Nonsynonymous SNV L171F 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 38224 chr1 21071406 21071406 T G rs143662289 HP1BP3 Nonsynonymous SNV I516L 0.021 0.023 0.01 7 25 9 0.018 3 0 0 0 0 19.21 38225 chr1 235715532 235715532 G A rs35346732 GNG4 Synonymous SNV S35S 0.02 0.018 0.017 9 23 7 0.023 5 1 2 0 0 12.95 38226 chr11 557584 557584 G A rs11822657 LMNTD2 Synonymous SNV A204A 0.048 0.073 0.054 22 56 28 0.056 16 1 3 0 0 8.989 38227 chr1 212156041 212156041 A G rs146700490 INTS7 Nonsynonymous SNV I321T 0.022 0.026 0.01 11 26 10 0.028 3 0 0 0 0 28.6 38228 chr2 21224643 21224643 A G rs145832414 APOB Nonsynonymous SNV Y4551H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.599 38229 chr11 559299 559300 TT - rs112162682 LMNTD2-AS1 0.049 0.073 0.051 23 58 28 0.059 15 1 3 0 0 38230 chr1 236746370 236746370 C T rs145813934 HEATR1 Nonsynonymous SNV V790I 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 9.798 38231 chr1 228469801 228469801 G C rs150312546 OBSCN Nonsynonymous SNV G2789R 0.032 0.021 0.02 11 38 8 0.028 6 1 0 0 0 25.2 38232 chr1 201617945 201617945 - CGG rs561927033 NAV1 G55_M56insG 0.021 0.031 0.007 7 25 12 0.018 2 0 1 0 0 38233 chr1 201772738 201772738 C G rs191072842 NAV1 Nonsynonymous SNV Q788E 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 28.6 38234 chr1 228475492 228475492 C T rs370497666 OBSCN Synonymous SNV P3214P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.45 38235 chr2 21225753 21225753 C T rs1042031 APOB Nonsynonymous SNV E4181K 0.203 0.169 0.18 69 238 65 0.177 53 24 4 8 4 Benign/Likely benign 1.713 38236 chr1 247024326 247024326 G A rs41304151 AHCTF1 Nonsynonymous SNV T1336M 0.072 0.073 0.037 17 84 28 0.044 11 2 1 0 0 0.006 38237 chr1 236748433 236748433 G A rs3738535 HEATR1 Synonymous SNV L711L 0.049 0.057 0.082 19 58 22 0.049 24 0 2 1 0 9.169 38238 chr1 21011355 21011355 T C rs61750850 KIF17 Synonymous SNV A726A 0.039 0.057 0.058 21 46 22 0.054 17 2 0 0 1 0.038 38239 chr1 236749626 236749626 C T rs3738541 HEATR1 Synonymous SNV T614T 0.049 0.06 0.075 19 58 23 0.049 22 0 2 1 0 15.36 38240 chr1 248202474 248202474 A G rs144950416 OR2L2 Nonsynonymous SNV Q302R 0.028 0.016 0.027 10 33 6 0.026 8 0 0 0 0 0.02 38241 chr1 201981774 201981774 G A rs55729978 ELF3 Nonsynonymous SNV G162D 0.037 0.023 0.044 16 44 9 0.041 13 0 0 0 0 15.08 38242 chr1 2105415 2105415 C T rs113812918 PRKCZ Synonymous SNV T272T 0.006 0.016 0.014 6 7 6 0.015 4 0 0 0 0 10.27 38243 chr1 24710405 24710405 A G rs11538189 STPG1 Star tloss M46T 0.111 0.115 0.122 53 130 44 0.136 36 5 1 2 4 0.001 38244 chr1 228879388 228879388 G A rs535332740 RHOU Synonymous SNV S226S 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 14.38 38245 chr2 21361576 21361576 C G rs116756692 TDRD15 Nonsynonymous SNV L413V 0.046 0.049 0.037 15 54 19 0.038 11 1 1 0 0 8.11 38246 chr1 237620034 237620034 G A rs78281932 RYR2 Synonymous SNV L537L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 15.21 38247 chr1 23763449 23763449 G A rs115515935 ASAP3 Synonymous SNV R468R 0.139 0.148 0.078 50 163 57 0.128 23 10 3 1 4 15.09 38248 chr1 237659895 237659895 A G rs116098815 RYR2 Synonymous SNV T682T 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign/Likely benign 0.17 38249 chr1 247274899 247274899 A G rs73135916 C1orf229 Nonsynonymous SNV S210P 0.037 0.01 0 11 44 4 0.028 0 17 1 0 4 1.395 38250 chr1 236729956 236729956 T C rs653737 HEATR1 Nonsynonymous SNV Y1433C 0.215 0.237 0.296 83 252 91 0.213 87 25 16 16 9 2.018 38251 chr1 237777876 237777876 C T RYR2 Synonymous SNV F1816F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 12.81 38252 chr1 248285906 248285906 G A rs41295946 OR2M1P 0.05 0.042 0.031 13 59 16 0.033 9 6 0 0 0 7.661 38253 chr1 229641874 229641874 A G NUP133 Nonsynonymous SNV S72P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.2 38254 chr1 248309356 248309356 A G rs73141283 OR2M5 Nonsynonymous SNV K303E 0.051 0.039 0.031 13 60 15 0.033 9 6 0 0 0 16.86 38255 chr2 215802308 215802308 A G rs149561952 ABCA12 Synonymous SNV L2172L 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.017 38256 chr11 6292065 6292065 C A rs1800843 CCKBR Synonymous SNV G281G 0.168 0.188 0.17 61 197 72 0.156 50 17 7 6 5 0.12 38257 chr1 20249127 20249127 C A rs12731919 PLA2G2E Synonymous SNV P54P 0.002 0.003 0.01 4 2 1 0.01 3 0 0 0 0 16.13 38258 chr1 215813958 215813958 C T USH2A Synonymous SNV G4970G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.252 38259 chr1 215844373 215844373 C T rs45549044 USH2A Nonsynonymous SNV G4692R 0.011 0.018 0.02 2 13 7 0.005 6 0 0 0 0 Benign/Likely benign 28.6 38260 chr1 2160390 2160390 C G rs28384811 SKI Nonsynonymous SNV A62G 0.092 0.091 0.105 49 108 35 0.126 31 6 3 2 5 Benign 12.67 38261 chr11 993298 993298 C T rs375080990 AP2A2 Synonymous SNV P490P 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 11.52 38262 chr1 24077451 24077451 C T rs2235541 ELOA Nonsynonymous SNV T145M 0.141 0.13 0.099 49 165 50 0.126 29 14 4 1 1 23.5 38263 chr1 203024692 203024692 G A rs61746231 PPFIA4 Synonymous SNV T654T 0.02 0.013 0.027 9 24 5 0.023 8 0 0 0 0 10.76 38264 chr1 237664060 237664060 T G rs762905211 RYR2 Synonymous SNV T751T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.503 38265 chr1 215342573 215342573 C T rs17024342 KCNK2 Synonymous SNV G165G 0.055 0.047 0.054 14 64 18 0.036 16 1 0 1 0 15.4 38266 chr1 203054651 203054651 G A rs61745017 MYOG Nonsynonymous SNV R147C 0.012 0.013 0.02 2 14 5 0.005 6 0 0 0 0 23.3 38267 chr1 247769217 247769217 T G rs61750030 OR2G3 Synonymous SNV T110T 0.058 0.073 0.082 26 68 28 0.067 24 1 1 0 2 8.071 38268 chr1 241798508 241798508 A G rs147840756 CHML Synonymous SNV C187C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.001 38269 chr11 1016715 1016715 T C rs78295717 MUC6 Nonsynonymous SNV H2029R 0.022 0.031 0.007 11 26 12 0.028 2 0 0 0 0 0.054 38270 chr1 231954145 231954145 G A rs12133766 DISC1 Synonymous SNV L499L 0.06 0.047 0.061 28 71 18 0.072 18 3 1 0 1 12.31 38271 chr11 1016719 1016719 T G rs757123517 MUC6 Nonsynonymous SNV T2028P 0.021 0.031 0.003 11 25 12 0.028 1 0 0 0 0 17.31 38272 chr1 241823930 241823930 A G rs77229246 WDR64 Nonsynonymous SNV N82D 0.02 0.029 0.031 6 24 11 0.015 9 0 1 1 0 18.55 38273 chr1 217915416 217915416 G A rs116780033 SPATA17 Nonsynonymous SNV M165I 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 18.72 38274 chr11 1016779 1016779 G A rs778746411 MUC6 Nonsynonymous SNV H2008Y 0.05 0.055 0.02 24 59 21 0.062 6 0 0 0 0 16.34 38275 chr11 1016789 1016789 T A rs79968742 MUC6 Synonymous SNV T2004T 0.048 0.052 0.02 21 56 20 0.054 6 0 0 0 0 9.436 38276 chr2 218925149 218925149 G A rs6758271 CXCR2P1 0 0 0.442 0 0 0 0 130 0 0 27 0 0.82 38277 chr2 218925419 218925419 A T rs3181379 CXCR2P1 0 0 0.031 0 0 0 0 9 0 0 0 0 0.702 38278 chr1 204095220 204095220 C T rs1064981 SOX13 Synonymous SNV G609G 0.016 0.013 0.027 7 19 5 0.018 8 0 0 0 0 22.1 38279 chr1 21904131 21904131 T C rs34605986 ALPL Nonsynonymous SNV V445A 0.089 0.091 0.095 44 105 35 0.113 28 5 1 2 4 Benign 0.348 38280 chr2 218940436 218940436 C T rs79542221 RUFY4 Synonymous SNV A407A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.78 38281 chr2 219000187 219000187 C T rs141723765 CXCR2 Synonymous SNV I221I 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Likely benign 7.932 38282 chr1 232568041 232568041 G A rs1547742 SIPA1L2 Nonsynonymous SNV S1403L 0.115 0.12 0.092 50 135 46 0.128 27 5 3 2 6 23.5 38283 chr1 232596653 232596653 A G rs1766574 SIPA1L2 Synonymous SNV H1025H 0.052 0.052 0.048 15 61 20 0.038 14 3 1 0 2 0.035 38284 chr1 2488025 2488025 C T rs538377825 TNFRSF14-AS1 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 8.145 38285 chr1 21952884 21952884 G A rs1130564 RAP1GAP Synonymous SNV S29S 0.032 0.039 0.02 22 37 15 0.056 6 0 0 0 1 14.46 38286 chr11 1016871 1016871 G T rs554068781 MUC6 Nonsynonymous SNV P1977H 0.049 0.044 0.003 25 58 17 0.064 1 0 0 0 0 22.7 38287 chr2 219232159 219232159 T C rs199711275 CATIP Nonsynonymous SNV I291T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 38288 chr2 219232428 219232428 G A rs181595082 CATIP-AS1 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 9.677 38289 chr1 220440986 220440986 T C rs45626633 AURKAP1 0.027 0.01 0.003 9 32 4 0.023 1 0 0 0 0 12.47 38290 chr11 1016892 1016892 G A rs78784632 MUC6 Nonsynonymous SNV S1970F 0.059 0.047 0.007 30 69 18 0.077 2 0 0 0 0 24.1 38291 chr1 218478411 218478411 G C rs11118075 RRP15 Nonsynonymous SNV K149N 0.035 0.036 0.037 19 41 14 0.049 11 0 0 0 0 28.7 38292 chr1 248004296 248004296 A G rs6681483 OR11L1 Synonymous SNV V301V 0.145 0.115 0.099 52 170 44 0.133 29 17 2 3 2 4.125 38293 chr2 219266423 219266423 C A rs2227251 CTDSP1 Synonymous SNV G68G 0.203 0.214 0.224 102 238 82 0.262 66 28 12 10 15 15.3 38294 chr1 242035444 242035444 G C rs4149966 EXO1 Nonsynonymous SNV V460L 0.02 0.023 0.007 6 23 9 0.015 2 0 1 0 0 2.288 38295 chr2 219294124 219294124 C A rs148353573 VIL1 Nonsynonymous SNV H228Q 0.014 0.021 0.017 13 16 8 0.033 5 1 0 0 0 Likely benign 1.351 38296 chr1 241798443 241798443 G A rs41269377 CHML Nonsynonymous SNV A209V 0.045 0.047 0.034 14 53 18 0.036 10 1 0 0 1 0.051 38297 chr11 1016908 1016908 G T rs79018624 MUC6 Nonsynonymous SNV P1965T 0.066 0.052 0.003 36 78 20 0.092 1 0 0 0 0 13.32 38298 chr1 204589066 204589066 C T rs36012907 LRRN2 Nonsynonymous SNV A19T 0.063 0.06 0.075 19 74 23 0.049 22 1 0 2 0 12.56 38299 chr2 219296837 219296837 C T rs35716557 VIL1 Synonymous SNV G424G 0.037 0.042 0.048 29 44 16 0.074 14 1 0 2 0 9.734 38300 chr1 24180958 24180958 G A rs200962094 FUCA1 Synonymous SNV S287S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 7.936 38301 chr1 2494330 2494330 G A rs2234167 TNFRSF14 Nonsynonymous SNV V241I 0.187 0.206 0.19 75 220 79 0.192 56 17 8 3 7 not provided 0.01 38302 chr1 204945871 204945871 C T rs17415240 NFASC Synonymous SNV V604V 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 16.16 38303 chr2 219508372 219508372 A T rs3770213 ZNF142 Nonsynonymous SNV L956H 0.335 0.339 0.34 129 393 130 0.331 100 69 23 16 22 18.83 38304 chr2 219513782 219513782 T C rs4674322 ZNF142 Synonymous SNV P283P 0.23 0.24 0.214 110 270 92 0.282 63 37 13 10 18 0.003 38305 chr1 24981439 24981439 A G rs56097146 SRRM1 Synonymous SNV T295T 0.074 0.091 0.037 33 87 35 0.085 11 4 0 0 1 6.262 38306 chr1 2523412 2523412 C T rs144423087 MMEL1 Nonsynonymous SNV D708N 0.009 0.013 0.007 1 10 5 0.003 2 0 0 0 0 Benign 0.017 38307 chr2 219562675 219562675 G A rs1863704 STK36 Nonsynonymous SNV G982D 0.334 0.336 0.34 122 392 129 0.313 100 68 22 17 19 Benign 0.01 38308 chr1 205035727 205035727 A G rs41264871 CNTN2 Nonsynonymous SNV N659D 0.006 0.01 0.017 2 7 4 0.005 5 0 0 0 0 Benign 12.17 38309 chr2 219857880 219857880 G A rs141631259 CRYBA2 Nonsynonymous SNV P7S 0.016 0.026 0.024 8 19 10 0.021 7 0 0 0 0 5.961 38310 chr2 219895548 219895548 C A rs56411706 CFAP65 Nonsynonymous SNV A277S 0.104 0.128 0.082 36 122 49 0.092 24 6 5 2 1 23.2 38311 chr1 26349245 26349245 C T rs35744844 EXTL1 Synonymous SNV P36P 0.112 0.125 0.105 48 131 48 0.123 31 9 3 1 3 11.24 38312 chr2 219900068 219900068 C T rs17852959 CFAP65 Nonsynonymous SNV V161M 0.097 0.12 0.068 36 114 46 0.092 20 3 4 1 1 4.206 38313 chr1 242048674 242048674 C T rs9350 EXO1 Nonsynonymous SNV P757L 0.113 0.115 0.15 43 133 44 0.11 44 12 2 4 3 29.3 38314 chr1 205272722 205272722 C T rs41264877 NUAK2 Synonymous SNV E581E 0.063 0.042 0.095 14 74 16 0.036 28 2 0 3 0 10.59 38315 chr2 219905247 219905247 T C rs3736403 CFAP65 Nonsynonymous SNV N22S 0.103 0.128 0.085 37 121 49 0.095 25 6 5 2 1 0.324 38316 chr1 26448447 26448447 A G rs17257107 PDIK1L Synonymous SNV K135K 0.209 0.195 0.197 91 245 75 0.233 58 24 9 3 10 0.185 38317 chr1 242383291 242383291 T C rs141155291 PLD5 Nonsynonymous SNV Q37R 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 38318 chr1 26448849 26448849 T C rs17356867 PDIK1L Synonymous SNV Y269Y 0.209 0.195 0.197 91 245 75 0.233 58 24 9 3 10 0.002 38319 chr2 219920565 219920565 C T rs3731878 IHH Synonymous SNV T200T 0.101 0.128 0.068 38 119 49 0.097 20 5 5 1 1 Benign 15.18 38320 chr2 219923410 219923410 - AGA rs57408770 MIR3131 0 0 0.677 0 0 0 0 199 0 0 67 0 38321 chr1 26490848 26490848 T C rs12129872 C1orf232 Nonsynonymous SNV Q122R 0.158 0.169 0.007 55 186 65 0.141 2 48 17 1 14 15.76 38322 chr2 220037444 220037444 G A rs17655123 CNPPD1 Nonsynonymous SNV P366L 0.158 0.182 0.105 52 186 70 0.133 31 10 7 3 1 14.3 38323 chr1 26504065 26504065 C T rs199986850 CNKSR1 Synonymous SNV P9P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 20.6 38324 chr1 234895094 234895094 C G rs78982717 PP2672 0.043 0.06 0 20 51 23 0.051 0 3 1 0 0 0.168 38325 chr1 235324212 235324212 G A rs184349413 RBM34 Nonsynonymous SNV P75L 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 26.1 38326 chr1 24447943 24447943 G A rs34967816 IL22RA1 Synonymous SNV V359V 0.134 0.13 0.122 54 157 50 0.138 36 9 5 2 2 9.335 38327 chr1 235324219 235324219 G A rs181926176 RBM34 Nonsynonymous SNV P73S 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 16.12 38328 chr1 24454688 24454688 C T rs16829204 IL22RA1 Nonsynonymous SNV V205I 0.196 0.193 0.19 89 230 74 0.228 56 23 5 2 8 1.46 38329 chr1 26524520 26524520 G A rs61776651 CATSPER4 Synonymous SNV S210S 0.123 0.117 0.119 68 144 45 0.174 35 7 3 0 5 15.18 38330 chr2 220046840 220046840 G A rs3210652 RETREG2 Nonsynonymous SNV R167H 0.143 0.164 0.105 46 168 63 0.118 31 10 8 3 0 0.853 38331 chr1 24484108 24484108 G A rs72648587 IFNLR1 Nonsynonymous SNV H359Y 0.092 0.086 0.075 41 108 33 0.105 22 4 0 1 1 0.004 38332 chr1 205810947 205810947 C T rs11240573 PM20D1 Nonsynonymous SNV G346R 0.063 0.065 0.051 25 74 25 0.064 15 5 0 0 0 29.2 38333 chr1 24488131 24488131 C T rs148521759 IFNLR1 Synonymous SNV E137E 0.009 0.018 0.003 1 10 7 0.003 1 0 0 0 0 9.557 38334 chr1 26608826 26608832 GGGGCCG - rs752317296 UBXN11 G388Vfs*17 0.326 0.401 0.364 163 383 154 0.418 107 139 59 11 53 38335 chr1 26608836 26608852 CCGGGACCGGGACTGGG - rs757094832 UBXN11 P381Sfs*21 0.334 0.411 0.371 165 392 158 0.423 109 141 61 11 53 38336 chr1 2458010 2458010 G C rs143275045 PANK4 Nonsynonymous SNV A6G 0.045 0.049 0.031 10 53 19 0.026 9 0 3 1 0 9.213 38337 chr1 20639329 20639329 G A rs376429022 VWA5B1 Nonsynonymous SNV G47D 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 27.2 38338 chr2 220313680 220313680 G C rs60593157 SPEG Synonymous SNV R600R 0.049 0.044 0.041 17 58 17 0.044 12 0 0 0 0 Benign 2.31 38339 chr2 220348443 220348443 C T SPEG Synonymous SNV G2086G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 38340 chr1 223980207 223980207 G C rs1153936 TP53BP2 Synonymous SNV L960L 0.12 0.109 0.116 41 141 42 0.105 34 13 3 2 3 9.733 38341 chr1 223989966 223989966 C T rs1153933 TP53BP2 Synonymous SNV S359S 0.116 0.102 0.116 40 136 39 0.103 34 12 3 2 3 17.71 38342 chr1 26670444 26670444 G T rs36024412 CRYBG2 Nonsynonymous SNV S902Y 0.278 0.307 0.316 126 326 118 0.323 93 44 18 16 20 26 38343 chr1 26670609 26670609 C T rs34370465 CRYBG2 Nonsynonymous SNV R847H 0.279 0.307 0.289 126 327 118 0.323 85 45 18 15 20 11.98 38344 chr1 26691174 26691174 C A rs11247933 ZNF683 Nonsynonymous SNV R288L 0.305 0.326 0.323 136 358 125 0.349 95 53 19 16 22 1.067 38345 chr1 26786627 26786627 G A rs3816539 DHDDS Nonsynonymous SNV V219M 0.222 0.253 0.259 91 261 97 0.233 76 30 12 11 10 Benign 16.19 38346 chr1 247320258 247320258 A G rs41304032 ZNF124 Synonymous SNV H222H 0.081 0.063 0.085 30 95 24 0.077 25 4 0 2 1 0.093 38347 chr1 225288534 225288534 A C rs3105571 DNAH14 Nonsynonymous SNV E1272A 0.06 0.034 0.068 12 70 13 0.031 20 3 0 1 0 12.82 38348 chr1 223178026 223178026 T C rs144673025 DISP1 Nonsynonymous SNV M1096T 0.012 0.008 0.01 3 14 3 0.008 3 0 0 0 0 Benign/Likely benign 23.3 38349 chr1 247614386 247614386 T C rs12070953 OR2B11 Nonsynonymous SNV D300G 0.201 0.164 0.19 71 236 63 0.182 56 26 3 5 9 13.29 38350 chr1 225373072 225373072 C T rs61851487 DNAH14 Nonsynonymous SNV T1872M 0.072 0.076 0.109 36 84 29 0.092 32 2 0 3 2 9.462 38351 chr1 247614407 247614407 G A rs12065526 OR2B11 Nonsynonymous SNV T293I 0.202 0.164 0.19 71 237 63 0.182 56 26 3 5 9 2.255 38352 chr1 225380564 225380564 A G rs191528375 DNAH14 Nonsynonymous SNV K1946R 0.018 0.021 0.017 1 21 8 0.003 5 0 0 0 0 0.002 38353 chr1 247614553 247614553 C T rs12086048 OR2B11 Synonymous SNV T244T 0.204 0.161 0.194 71 239 62 0.182 57 27 3 5 9 12.61 38354 chr1 248844959 248844959 T C rs55871516 OR14I1 Nonsynonymous SNV Y216C 0.069 0.094 0.058 40 81 36 0.103 17 0 2 1 2 24.3 38355 chr2 220431631 220431631 G T rs1043537 OBSL1 Synonymous SNV A685A 0.287 0.255 0.252 98 337 98 0.251 74 41 10 10 16 Benign 1.627 38356 chr2 220432014 220432014 G A rs61732787 OBSL1 Synonymous SNV F606F 0.286 0.25 0.252 98 336 96 0.251 74 41 10 10 16 Benign 0.306 38357 chr1 248845463 248845463 G T rs149611560 OR14I1 Nonsynonymous SNV T48N 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 18.9 38358 chr1 27877392 27877392 C T rs181285619 AHDC1 Nonsynonymous SNV R412H 0.015 0.01 0.02 4 18 4 0.01 6 0 0 1 0 Likely benign 24.6 38359 chr1 224377996 224377996 A G rs61732863 DEGS1 Nonsynonymous SNV N267S 0.012 0.008 0.007 1 14 3 0.003 2 0 0 0 0 Benign 0.607 38360 chr1 247695427 247695427 C G rs34220133 OR2C3 Nonsynonymous SNV R129S 0.141 0.122 0.126 36 165 47 0.092 37 11 2 3 2 23.6 38361 chr1 249150116 249150116 G C rs13313088 ZNF692 Nonsynonymous SNV P185R 0.055 0.049 0.075 18 65 19 0.046 22 1 0 1 0 1.785 38362 chr1 27877418 27877418 G A rs113173951 AHDC1 Synonymous SNV R403R 0.12 0.125 0.105 41 141 48 0.105 31 5 0 0 0 1.311 38363 chr1 27878162 27878162 C T rs112179924 AHDC1 Synonymous SNV P155P 0.115 0.128 0.105 39 135 49 0.1 31 5 0 0 0 11.93 38364 chr1 225142710 225142710 A T rs41267347 DNAH14 Nonsynonymous SNV T43S 0.062 0.063 0.034 31 73 24 0.079 10 3 0 0 0 0.004 38365 chr1 225580067 225580067 C T DNAH14 Nonsynonymous SNV H4469Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 19.6 38366 chr2 220771223 220771223 C T rs4674470 MIR4268 0 0 0.776 0 0 0 0 228 0 0 88 0 7.852 38367 chr1 225211422 225211422 T C rs75568712 DNAH14 Nonsynonymous SNV F405L 0.063 0.063 0.061 31 74 24 0.079 18 3 0 0 0 2.677 38368 chr2 222290829 222290829 C T rs35860178 EPHA4 Synonymous SNV T909T 0.123 0.13 0.122 46 144 50 0.118 36 8 2 3 2 13.59 38369 chr1 28792238 28792238 A G rs778120577 PHACTR4 Nonsynonymous SNV N115S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 24 38370 chr1 247752608 247752608 T C OR2G2 Nonsynonymous SNV I316T 0.003 0 0 0 4 0 0 0 0 0 0 0 11.35 38371 chr2 223554134 223554134 G C rs114230367 MOGAT1 Nonsynonymous SNV V142L 0.041 0.036 0.027 18 48 14 0.046 8 1 2 0 0 6.751 38372 chr1 226173167 226173167 A T rs193190607 SDE2 Nonsynonymous SNV L398M 0.013 0.021 0.02 3 15 8 0.008 6 0 0 0 0 15.33 38373 chr1 25890247 25890247 C T rs41291058 LDLRAP1 Nonsynonymous SNV R238W 0.048 0.044 0.048 12 56 17 0.031 14 0 1 0 1 Conflicting interpretations of pathogenicity 22.5 38374 chr1 225311312 225311312 C T rs76946626 DNAH14 Nonsynonymous SNV T1417I 0.059 0.057 0.065 31 69 22 0.079 19 3 0 0 0 23.2 38375 chr2 225244383 225244383 G T FAM124B Nonsynonymous SNV D425E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 38376 chr1 225380562 225380565 AAAG - rs144339803 DNAH14 K1947Tfs*6 0.053 0.06 0.058 29 62 23 0.074 17 2 1 0 0 38377 chr2 225244888 225244888 A G rs3738954 FAM124B Nonsynonymous SNV I257T 0.154 0.159 0.177 62 181 61 0.159 52 19 4 5 7 0.008 38378 chr2 225244923 225244923 A G rs3738953 FAM124B Synonymous SNV V245V 0.156 0.159 0.187 62 183 61 0.159 55 20 4 7 7 5.724 38379 chr1 247886648 247886648 G A rs142212925 OR14A2 Nonsynonymous SNV S233F 0.025 0.029 0.017 10 29 11 0.026 5 0 0 0 0 22.9 38380 chr2 225669996 225669996 A G rs4674940 DOCK10 Synonymous SNV F1320F 0.068 0.081 0.054 30 80 31 0.077 16 2 1 0 0 2.484 38381 chr1 2255569 2255569 C T rs61729821 MORN1 Nonsynonymous SNV A422T 0.008 0.01 0.007 6 9 4 0.015 2 0 0 0 0 6.1 38382 chr2 225670901 225670901 G C rs4674941 DOCK10 Nonsynonymous SNV I1246M 0.215 0.232 0.201 84 252 89 0.215 59 25 10 5 4 12.78 38383 chr1 240341334 240341334 C T rs141897898 FMN2 Synonymous SNV P632P 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Likely benign 8.826 38384 chr2 225684166 225684166 A G rs7572725 DOCK10 Synonymous SNV L1082L 0.213 0.229 0.194 84 250 88 0.215 57 25 10 5 4 2.656 38385 chr2 225811581 225811581 T A rs13021295 DOCK10 Nonsynonymous SNV I30F 0.295 0.297 0.218 108 346 114 0.277 64 55 16 12 20 16.83 38386 chr11 9595732 9595732 C G rs11042428 WEE1 Synonymous SNV G84G 0.253 0.234 0.248 112 297 90 0.287 73 138 40 33 50 0.991 38387 chr1 226040452 226040452 C T TMEM63A Nonsynonymous SNV E606K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 35 38388 chr2 228194480 228194480 A T rs3211097 MFF Nonsynonymous SNV S7C 0.291 0.323 0.32 114 342 124 0.292 94 44 14 17 15 Benign 22.2 38389 chr2 228194481 228194481 G T rs3211098 MFF Nonsynonymous SNV S7I 0.291 0.323 0.32 114 342 124 0.292 94 44 14 17 15 Benign 23.2 38390 chr1 226109286 226109286 C T rs755339149 PYCR2 Nonsynonymous SNV R126H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 38391 chr1 226827297 226827297 C T ITPKB Synonymous SNV E838E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.87 38392 chr1 242121123 242121123 G A BECN2 Nonsynonymous SNV G19S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.602 38393 chr2 228493211 228493211 G A rs28739019 C2orf83 Nonsynonymous SNV S45L 0.289 0.237 0.367 115 339 91 0.295 108 46 12 17 14 6.618 38394 chr1 228004966 228004966 C A rs61826983 PRSS38 Nonsynonymous SNV A123D 0.039 0.031 0.027 11 46 12 0.028 8 3 0 0 0 21.3 38395 chr1 2433894 2433894 G A rs55874156 PLCH2 Nonsynonymous SNV R975Q 0.016 0.018 0.02 9 19 7 0.023 6 0 0 1 1 0.297 38396 chr2 228855866 228855866 G C rs16824283 SPHKAP Nonsynonymous SNV S1574R 0.284 0.294 0.279 108 334 113 0.277 82 39 18 12 16 19.39 38397 chr1 27056192 27056192 C T rs61749356 ARID1A Synonymous SNV G396G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 16.66 38398 chr1 248059603 248059603 G A rs142197394 OR2W3 Nonsynonymous SNV G239S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 11.72 38399 chr1 27190324 27190324 C T rs11542704 SFN Synonymous SNV T207T 0.026 0.013 0.024 7 30 5 0.018 7 0 0 0 1 12.11 38400 chr1 228290033 228290033 T C rs61825155 C1orf35 Nonsynonymous SNV K142R 0.015 0.023 0.017 6 18 9 0.015 5 0 0 0 0 25.9 38401 chr1 27239920 27239920 C G rs6659176 NR0B2 Nonsynonymous SNV G171A 0.055 0.036 0.044 11 64 14 0.028 13 3 0 0 1 Benign 25.1 38402 chr1 213124992 213124992 G C rs149124296 VASH2 Synonymous SNV G36G 0.006 0.021 0.007 1 7 8 0.003 2 0 0 0 0 12.21 38403 chr1 213147400 213147400 G A rs35976699 VASH2 Nonsynonymous SNV R284Q 0.045 0.052 0.027 12 53 20 0.031 8 3 1 0 0 24 38404 chr1 27278573 27278573 T C rs17360994 KDF1 Nonsynonymous SNV Q100R 0.055 0.039 0.044 11 65 15 0.028 13 3 0 0 1 24.2 38405 chr1 27332466 27332466 T C rs61737590 TENT5B Nonsynonymous SNV H416R 0.049 0.036 0.058 9 58 14 0.023 17 1 0 0 1 8.337 38406 chr11 11963957 11963957 C T rs776185891 USP47 Nonsynonymous SNV R623W 0 0 0 0 0 0 0 0 0 0 0 0 34 38407 chr1 248084825 248084825 C T rs61857492 OR2T8 Nonsynonymous SNV A169V 0.026 0.029 0 4 31 11 0.01 0 1 1 0 0 15.58 38408 chr1 27339105 27339105 C T rs35810604 TENT5B Synonymous SNV G19G 0.045 0.034 0.048 9 53 13 0.023 14 1 0 0 1 8.401 38409 chr1 227920186 227920186 G A rs35575794 JMJD4 Synonymous SNV D417D 0.083 0.094 0.071 32 98 36 0.082 21 3 0 1 2 3.45 38410 chr1 33413840 33413840 T C rs199517724 RNF19B Synonymous SNV S322S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 4.387 38411 chr2 232072912 232072912 T C rs11558174 ARMC9 Synonymous SNV L42L 0.263 0.268 0.272 85 309 103 0.218 80 36 14 13 12 4.956 38412 chr11 12248590 12248590 A G rs35228638 MICAL2 Nonsynonymous SNV Y636C 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 Benign 15.64 38413 chr1 3380057 3380057 G A rs3806164 ARHGEF16 Nonsynonymous SNV V137M 0.054 0.049 0.044 23 63 19 0.059 13 2 1 0 1 0.021 38414 chr1 228432108 228432108 C A rs368159429 OBSCN Nonsynonymous SNV T1106K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.354 38415 chr11 1082605 1082605 G A rs41480348 MUC2 Synonymous SNV T618T 0.055 0.055 0.078 29 65 21 0.074 23 3 1 2 3 9.741 38416 chr2 233251366 233251366 C T rs12328730 ECEL1P2 0 0 0.449 0 0 0 0 132 0 0 26 0 9.425 38417 chr2 233251534 233251534 C A rs73001992 ECEL1P2 0 0 0.18 0 0 0 0 53 0 0 6 0 10.09 38418 chr1 28206250 28206250 T C rs41284294 THEMIS2 Nonsynonymous SNV F111L 0.006 0.008 0.003 6 7 3 0.015 1 0 0 0 0 Benign 18.13 38419 chr1 245848996 245848996 G A rs61744484 KIF26B Nonsynonymous SNV R904Q 0.035 0.031 0.02 7 41 12 0.018 6 1 0 0 0 10.11 38420 chr2 233659553 233659553 C A rs2289912 GIGYF2 Nonsynonymous SNV P454T 0.032 0.018 0.031 13 37 7 0.033 9 1 0 1 0 15.79 38421 chr1 34035114 34035114 T C rs34047235 CSMD2 Nonsynonymous SNV N2664S 0.02 0.005 0.014 3 23 2 0.008 4 0 0 0 0 0.083 38422 chr1 248185883 248185883 G A rs55982561 OR2L5 Nonsynonymous SNV G212S 0.059 0.047 0.088 18 69 18 0.046 26 3 0 2 0 3.789 38423 chr1 28564279 28564279 A G rs9508 ATP5IF1 Nonsynonymous SNV R63G 0.319 0.323 0.32 133 375 124 0.341 94 62 17 13 21 0.21 38424 chr1 216496969 216496969 C T USH2A Nonsynonymous SNV G466E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 38425 chr1 228467711 228467711 G A rs3795783 OBSCN Nonsynonymous SNV R2529Q 0.026 0.031 0.017 12 30 12 0.031 5 0 0 0 0 22.8 38426 chr1 3421897 3421897 A G rs2821008 MEGF6 Nonsynonymous SNV L688P 0.16 0.174 0.133 55 188 67 0.141 39 16 7 3 3 0.025 38427 chr11 15726795 15726795 C T rs147396761 LOC102724957 Stop gain R103X 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 4.787 38428 chr1 228468244 228468244 G A rs12061320 OBSCN Synonymous SNV V2648V 0.026 0.031 0.02 13 30 12 0.033 6 0 0 0 0 2.834 38429 chr1 3425183 3425183 G A rs61735125 MEGF6 Synonymous SNV C533C 0.102 0.102 0.078 22 120 39 0.056 23 5 2 2 0 10.57 38430 chr1 228469870 228469870 C T rs3795785 OBSCN Nonsynonymous SNV R2812W 0.023 0.031 0.017 12 27 12 0.031 5 0 0 0 0 21.2 38431 chr1 3428160 3428160 T G rs2820999 MEGF6 Synonymous SNV T356T 0.298 0.294 0.333 97 350 113 0.249 98 57 17 18 15 6.004 38432 chr11 1257771 1257771 C T rs376541978 MUC5B Synonymous SNV I1012I 0 0 0 2 0 0 0.005 0 0 0 0 0 12.81 38433 chr1 228476366 228476366 G T rs3795789 OBSCN Nonsynonymous SNV E3372D 0.026 0.031 0.017 12 30 12 0.031 5 0 0 0 0 21 38434 chr2 234184417 234184417 G A rs3792109 SCARNA5 0 0 0.537 0 0 0 0 158 0 0 40 0 17.12 38435 chr1 248224569 248224569 G T rs75239130 OR2L3 Nonsynonymous SNV G196C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 38436 chr2 234235820 234235820 C T rs2304773 SAG Synonymous SNV A163A 0.081 0.073 0.126 36 95 28 0.092 37 3 0 4 1 Benign 12.49 38437 chr1 228476367 228476367 A T rs3795790 OBSCN Nonsynonymous SNV S3373C 0.026 0.031 0.017 12 30 12 0.031 5 0 0 0 0 16.96 38438 chr1 248487016 248487016 C T rs4451579 OR2M7 Synonymous SNV L285L 0.159 0.13 0.146 60 187 50 0.154 43 14 4 6 6 1.244 38439 chr1 228476414 228476414 G A rs3795791 OBSCN Synonymous SNV A3388A 0.026 0.031 0.017 12 30 12 0.031 5 0 0 0 0 11.9 38440 chr2 234354320 234354320 C T rs2305541 DGKD Synonymous SNV L372L 0.072 0.068 0.095 20 84 26 0.051 28 2 0 1 2 10.87 38441 chr2 234356807 234356807 G A rs10208953 DGKD Synonymous SNV S454S 0.027 0.018 0.044 7 32 7 0.018 13 0 0 0 0 16.23 38442 chr1 247076686 247076686 T C rs373985621 AHCTF1 Nonsynonymous SNV H135R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 38443 chr1 228492220 228492220 C T rs41270183 OBSCN Nonsynonymous SNV S4740L 0.022 0.023 0.014 10 26 9 0.026 4 0 0 0 0 18.97 38444 chr2 234436069 234436069 C T rs36075906 USP40 Nonsynonymous SNV R569Q 0.034 0.031 0.027 18 40 12 0.046 8 0 1 0 0 23.3 38445 chr1 248285936 248285936 C T rs189596329 OR2M1P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 7.047 38446 chr1 35251161 35251161 C T rs35983826 GJB3 Synonymous SNV N266N 0.105 0.125 0.109 44 123 48 0.113 32 8 4 0 5 Benign 8.93 38447 chr1 248512498 248512498 A G rs28448343 OR14C36 Nonsynonymous SNV Q141R 0.186 0.159 0.167 68 218 61 0.174 49 18 8 7 5 0.55 38448 chr11 17518331 17518331 G A rs761957144 USH1C Synonymous SNV C521C 0 0 0 0 0 0 0 0 0 0 0 0 11.01 38449 chr1 220791729 220791729 G T rs36024488 MARK1 Synonymous SNV G188G 0.036 0.044 0.044 13 42 17 0.033 13 1 0 0 1 7.55 38450 chr1 220804451 220804451 G A rs35322308 MARK1 Synonymous SNV P306P 0.041 0.044 0.044 17 48 17 0.044 13 1 0 0 1 14.03 38451 chr11 17580087 17580087 C T rs747646764 OTOG Synonymous SNV G345G 0 0 0 0 0 0 0 0 0 0 0 0 9.389 38452 chr1 3548122 3548122 G A rs151110688 WRAP73 Nonsynonymous SNV P383L 0.014 0.008 0.01 4 16 3 0.01 3 0 0 0 0 33 38453 chr1 248524938 248525021 TGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT - OR2T4 M29_P56del 0.12 0.099 0.129 45 141 38 0.115 38 8 2 7 4 38454 chr1 248525053 248525053 A T rs28415565 OR2T4 Synonymous SNV A57A 0.134 0.122 0.15 49 157 47 0.126 44 9 7 8 4 0.002 38455 chr11 17594720 17594720 C T rs541824893 OTOG Nonsynonymous SNV R738C 0 0 0 0 0 0 0 0 0 0 0 0 35 38456 chr1 248525060 248525060 T A rs28491677 OR2T4 Nonsynonymous SNV C60S 0.119 0.115 0.15 43 140 44 0.11 44 9 7 8 4 0.108 38457 chr1 32202227 32202227 A G rs751936334 ADGRB2 Nonsynonymous SNV I1026T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.6 38458 chr1 3548832 3548832 G C rs2760320 WRAP73 Nonsynonymous SNV I331M 0.081 0.081 0.078 19 95 31 0.049 23 4 2 1 0 3.225 38459 chr1 248525100 248525100 G A rs73146195 OR2T4 Nonsynonymous SNV G73E 0.027 0.016 0.01 7 32 6 0.018 3 0 0 0 0 0.298 38460 chr1 228505727 228505727 C T rs3795800 OBSCN Nonsynonymous SNV R4662C 0.026 0.031 0.017 13 30 12 0.033 5 0 0 0 0 18.7 38461 chr1 248525135 248525135 G A rs76721536 OR2T4 Nonsynonymous SNV A85T 0.1 0.086 0.099 37 117 33 0.095 29 0 1 0 0 0.122 38462 chr1 35656306 35656306 G A rs763332731 SFPQ Synonymous SNV F436F 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 10.97 38463 chr1 36212547 36212547 G T rs34390044 CLSPN Nonsynonymous SNV P828T 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 4.79 38464 chr1 248525138 248525138 C T rs75096121 OR2T4 Nonsynonymous SNV H86Y 0.099 0.081 0.092 37 116 31 0.095 27 0 0 0 0 11.45 38465 chr1 32671404 32671404 A G IQCC Nonsynonymous SNV D41G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.16 38466 chr1 3301721 3301721 C T rs2282198 PRDM16 Synonymous SNV S148S 0.298 0.307 0.279 124 350 118 0.318 82 51 19 11 26 Benign 12.12 38467 chr1 248525146 248525146 C T rs28482938 OR2T4 Synonymous SNV H88H 0.141 0.109 0.129 46 166 42 0.118 38 3 0 3 0 5.769 38468 chr2 234710831 234710831 G C rs10929306 MROH2A Synonymous SNV L526L 0.175 0.206 0.211 68 205 79 0.174 62 16 6 7 1 7.272 38469 chr1 248525193 248525193 C T rs28655275 OR2T4 Nonsynonymous SNV A104V 0.117 0.096 0.112 38 137 37 0.097 33 3 0 3 0 14.26 38470 chr2 234712731 234712731 G A MROH2A Nonsynonymous SNV R595H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 38471 chr2 234713706 234713706 T C rs4430949 MROH2A Synonymous SNV S667S 0.175 0.206 0.211 68 205 79 0.174 62 16 6 7 1 0.073 38472 chr1 248525328 248525328 - TA rs61248663 OR2T4 Frameshift insertion M150Tfs*20 0.151 0.133 0.15 54 177 51 0.138 44 9 7 8 4 38473 chr2 234716426 234716426 G A rs11563241 MROH2A Synonymous SNV T740T 0.17 0.208 0.207 67 199 80 0.172 61 15 6 7 1 12.9 38474 chr1 248525330 248525330 A G rs56721857 OR2T4 Nonsynonymous SNV M150V 0.149 0.13 0.15 53 175 50 0.136 44 9 7 8 4 24.3 38475 chr11 17662331 17662331 G A rs542442173 OTOG Nonsynonymous SNV V2671M 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 13.83 38476 chr1 36888462 36888462 A G rs1416840 OSCP1 Nonsynonymous SNV I219T 0.144 0.141 0.136 48 169 54 0.123 40 13 5 2 3 0.752 38477 chr1 248525647 248525647 C A rs28405645 OR2T4 Synonymous SNV L255L 0.151 0.133 0.15 55 177 51 0.141 44 9 7 8 4 6.03 38478 chr11 17662616 17662616 T C rs180703235 OTOG Nonsynonymous SNV L2735P 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 22.7 38479 chr1 36889005 36889005 G A rs16822954 OSCP1 Synonymous SNV S193S 0.136 0.122 0.133 46 160 47 0.118 39 12 4 2 3 9.648 38480 chr1 248525650 248525650 C T rs28602650 OR2T4 Synonymous SNV T256T 0.151 0.133 0.15 55 177 51 0.141 44 9 7 8 4 1.439 38481 chr1 36893968 36893968 A G rs61308377 OSCP1 Nonsynonymous SNV Y209H 0.141 0.13 0.126 46 165 50 0.118 37 12 4 2 3 1.763 38482 chr1 248525657 248525657 G A rs28718027 OR2T4 Nonsynonymous SNV G259R 0.151 0.133 0.15 55 177 51 0.141 44 9 7 8 4 1.057 38483 chr1 228548197 228548197 G A rs10158354 OBSCN Nonsynonymous SNV R6535H 0.15 0.128 0.105 54 176 49 0.138 31 16 4 1 4 1.814 38484 chr1 248525780 248525780 C T rs28698997 OR2T4 Nonsynonymous SNV P300S 0.151 0.133 0.15 54 177 51 0.138 44 9 7 8 4 22.8 38485 chr1 247769592 247769592 C T rs1151683 OR2G3 Synonymous SNV H235H 0.187 0.167 0.197 51 219 64 0.131 58 17 8 9 2 8.153 38486 chr1 36935408 36935408 C T rs3918020 CSF3R Nonsynonymous SNV R440Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign/Likely benign 0.031 38487 chr2 234775675 234775675 G T rs213544 MSL3P1 0 0 0.133 0 0 0 0 39 0 0 1 0 3.296 38488 chr1 228550426 228550426 C T rs35155240 OBSCN Nonsynonymous SNV P6271S 0.142 0.12 0.105 53 167 46 0.136 31 16 3 1 4 1.559 38489 chr1 248550970 248550970 A G rs7417616 OR2T6 Nonsynonymous SNV N21D 0.163 0.133 0.136 57 191 51 0.146 40 16 7 5 4 2.911 38490 chr2 235950356 235950356 G A rs201220067 SH3BP4 Nonsynonymous SNV V315M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.2 38491 chr11 18305355 18305355 C T rs61755718 HPS5 Nonsynonymous SNV M901I 0.026 0.016 0.017 8 31 6 0.021 5 0 0 0 1 Conflicting interpretations of pathogenicity 20.9 38492 chr1 248551203 248551203 T C rs6700947 OR2T6 Synonymous SNV T98T 0.163 0.133 0.136 57 191 51 0.146 40 16 7 5 4 0.004 38493 chr1 3753068 3753068 T A rs148455387 CEP104 Synonymous SNV G436G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.711 38494 chr1 248551560 248551560 C T rs954474 OR2T6 Synonymous SNV S217S 0.147 0.13 0.133 55 173 50 0.141 39 11 7 5 4 6.363 38495 chr2 236708166 236708166 C T rs2292708 AGAP1 Synonymous SNV T319T 0.275 0.268 0.238 100 323 103 0.256 70 45 15 6 12 17.43 38496 chr1 248551636 248551636 T G rs954475 OR2T6 Nonsynonymous SNV S243A 0.163 0.133 0.136 58 191 51 0.149 40 16 7 5 4 22.6 38497 chr1 228564884 228564884 G A rs56174824 OBSCN Nonsynonymous SNV R7724H 0.15 0.125 0.102 52 176 48 0.133 30 16 4 1 4 14.69 38498 chr1 228588680 228588680 A C rs11555960 TRIM11 Synonymous SNV A240A 0.193 0.167 0.105 69 227 64 0.177 31 18 6 2 4 0.002 38499 chr1 228602660 228602660 G C rs503203 TRIM17 Synonymous SNV A38A 0.152 0.133 0.116 58 179 51 0.149 34 15 4 1 6 0.034 38500 chr1 228675570 228675570 G C rs61827301 RNF187 Synonymous SNV L127L 0.034 0.036 0.027 18 40 14 0.046 8 5 2 2 3 8.265 38501 chr1 38041223 38041223 G A rs115369848 GNL2 Synonymous SNV S189S 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 12.44 38502 chr2 238427194 238427194 T C rs3751109 MLPH Nonsynonymous SNV L153P 0.119 0.107 0.126 45 140 41 0.115 37 12 3 4 3 0.03 38503 chr2 238427251 238427251 G A rs3751107 MLPH Nonsynonymous SNV G172D 0.119 0.107 0.126 45 140 41 0.115 37 12 3 4 3 0.014 38504 chr11 19164593 19164593 C T rs202238805 ZDHHC13 Synonymous SNV N32N 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 12.84 38505 chr1 3428608 3428608 G A rs11585362 MEGF6 Nonsynonymous SNV A313V 0.162 0.156 0.214 54 190 60 0.138 63 11 3 6 3 19.23 38506 chr2 238434434 238434434 C T rs11883500 MLPH Nonsynonymous SNV T249I 0.113 0.104 0.112 36 133 40 0.092 33 15 4 3 3 0.365 38507 chr1 38329999 38329999 C G rs41311191 INPP5B Nonsynonymous SNV D707H 0.238 0.232 0.296 102 279 89 0.262 87 34 11 11 9 31 38508 chr1 38348506 38348506 G A rs41307896 INPP5B Synonymous SNV D304D 0.242 0.237 0.296 106 284 91 0.272 87 37 12 11 10 9.469 38509 chr1 249141782 249141782 A T rs12038641 ZNF672 Synonymous SNV T103T 0.012 0.01 0.01 6 14 4 0.015 3 0 0 0 0 0.003 38510 chr1 249211096 249211096 G A rs74157349 PGBD2 Nonsynonymous SNV V105I 0.013 0.01 0.014 11 15 4 0.028 4 0 0 0 0 1.851 38511 chr2 238449108 238449108 G T rs61737681 MLPH Nonsynonymous SNV A340S 0.051 0.047 0.02 10 60 18 0.026 6 4 0 0 0 0.002 38512 chr1 249211619 249211619 G A rs77124333 PGBD2 Nonsynonymous SNV R28Q 0.013 0.01 0.014 7 15 4 0.018 4 0 0 0 0 18.22 38513 chr11 20070668 20070668 A G rs61739975 NAV2 Nonsynonymous SNV I519V 0.014 0.01 0.01 3 17 4 0.008 3 0 0 0 0 7.34 38514 chr1 229772788 229772788 G A rs752117755 URB2 Nonsynonymous SNV A810T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 27.8 38515 chr1 35900615 35900615 A G rs3814302 KIAA0319L Synonymous SNV D1010D 0.034 0.026 0.051 15 40 10 0.038 15 1 0 2 0 0.919 38516 chr1 26487995 26487995 C A rs61729396 FAM110D Synonymous SNV R71R 0.023 0.023 0.014 9 27 9 0.023 4 1 0 0 0 14.29 38517 chr1 39816546 39816546 G A rs41270815 MACF1 Synonymous SNV K1623K 0.077 0.07 0.075 33 90 27 0.085 22 4 1 1 0 11.9 38518 chr2 239039183 239039183 G A rs73102303 ESPNL Nonsynonymous SNV V242M 0.153 0.151 0.204 74 180 58 0.19 60 12 3 7 4 0.026 38519 chr2 239039779 239039779 G A rs73102306 ESPNL Synonymous SNV L440L 0.099 0.122 0.15 53 116 47 0.136 44 7 2 4 4 5.177 38520 chr1 36773761 36773761 C G rs76695875 SH3D21 Nonsynonymous SNV P86R 0.017 0.013 0.01 4 20 5 0.01 3 0 0 0 0 26 38521 chr2 239040218 239040218 G A rs73102309 ESPNL Nonsynonymous SNV A587T 0.152 0.156 0.197 73 178 60 0.187 58 11 3 6 5 0.002 38522 chr2 239040343 239040343 G A rs73102311 ESPNL Synonymous SNV K628K 0.099 0.12 0.15 55 116 46 0.141 44 7 2 4 4 6.02 38523 chr1 232600832 232600832 G A rs191951053 SIPA1L2 Synonymous SNV H858H 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.025 38524 chr2 239050142 239050142 G A rs73102336 KLHL30 Synonymous SNV R249R 0.096 0.115 0.153 52 113 44 0.133 45 8 2 5 4 2.667 38525 chr1 26526375 26526375 G A rs144835190 CATSPER4 Synonymous SNV Q271Q 0.009 0 0.017 1 10 0 0.003 5 0 0 0 0 9.479 38526 chr1 231903010 231903010 C T rs3738402 DISC1 Synonymous SNV L115L 0.028 0.018 0.02 13 33 7 0.033 6 0 0 0 0 12.19 38527 chr2 239162038 239162038 A G rs78832829 PER2 Nonsynonymous SNV F876L 0.03 0.021 0.014 8 35 8 0.021 4 1 0 0 0 0.375 38528 chr2 239237388 239237388 G A rs61742338 TRAF3IP1 Nonsynonymous SNV R139Q 0.049 0.063 0.051 21 57 24 0.054 15 1 0 0 1 21 38529 chr1 3703698 3703698 A G rs41307854 LRRC47 Synonymous SNV G264G 0.029 0.029 0.075 7 34 11 0.018 22 0 1 1 0 7.432 38530 chr1 40705726 40705726 A T rs10889205 RLF Nonsynonymous SNV E1784D 0.157 0.148 0.16 50 184 57 0.128 47 14 6 2 3 0.001 38531 chr1 37325477 37325477 A C rs6691840 GRIK3 Nonsynonymous SNV S310A 0.298 0.307 0.265 117 350 118 0.3 78 54 19 8 18 0.058 38532 chr11 26587394 26587394 T C rs11029619 MUC15 Synonymous SNV L4L 0.037 0.036 0.041 23 43 14 0.059 12 1 0 0 0 0.138 38533 chr1 26671144 26671144 T C rs35433596 CRYBG2 Nonsynonymous SNV I669V 0.032 0.042 0.024 12 38 16 0.031 7 1 0 0 0 1.098 38534 chr2 239344652 239344652 C G ASB1 Nonsynonymous SNV I164M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 38535 chr2 239990521 239990521 - GTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGTCACG rs780524272 MIR4440 0 0 0.102 0 0 0 0 30 0 0 2 0 38536 chr1 40980559 40980559 G A rs1134586 EXO5 Nonsynonymous SNV D115N 0.229 0.258 0.238 100 269 99 0.256 70 26 9 10 12 14.12 38537 chr2 240007544 240007544 C T rs12233076 MIR4441 0 0 0.303 0 0 0 0 89 0 0 15 0 0.627 38538 chr1 248285809 248285809 A G rs147075747 OR2M1P 0.032 0.031 0.031 9 38 12 0.023 9 1 1 0 0 7.9 38539 chr2 240323661 240323661 C A rs1709851 HDAC4-AS1 0 0 0.663 0 0 0 0 195 0 0 67 0 27.7 38540 chr1 3782307 3782307 C G rs770918230 DFFB Nonsynonymous SNV S9C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.322 38541 chr2 240684619 240684619 G A rs6543576 LOC150935 0 0 0.061 0 0 0 0 18 0 0 1 0 0.024 38542 chr2 240721728 240721728 A G rs1574030 LOC150935 0 0 0.786 0 0 0 0 231 0 0 91 0 3.572 38543 chr1 26629304 26629304 C T rs185509270 UBXN11 Nonsynonymous SNV G24E 0.011 0.008 0.01 1 13 3 0.003 3 0 0 0 0 25.8 38544 chr2 240721814 240721814 A C rs1574029 LOC150935 0 0 0.793 0 0 0 0 233 0 0 92 0 3.727 38545 chr1 41285585 41285585 G A rs12117176 KCNQ4 Synonymous SNV P291P 0.093 0.083 0.105 38 109 32 0.097 31 4 2 1 1 Benign 11.72 38546 chr2 241066325 241066325 A C rs12614632 COPS9 Synonymous SNV A138A 0.174 0.143 0.184 92 204 55 0.236 54 19 6 4 14 0.002 38547 chr1 41285591 41285591 A G rs12143503 KCNQ4 Synonymous SNV T293T 0.093 0.083 0.105 38 109 32 0.097 31 4 2 1 1 Benign 5.96 38548 chr2 241395503 241395503 T C rs2292832 MIR149 0 0 0.578 0 0 0 0 170 0 0 71 0 7.009 38549 chr2 241404317 241404317 C T rs2229458 GPC1 Synonymous SNV P353P 0.641 0.615 0.541 230 752 236 0.59 159 256 72 42 60 8.551 38550 chr1 41296828 41296828 T G rs34287852 KCNQ4 Nonsynonymous SNV H401Q 0.247 0.216 0.207 80 290 83 0.205 61 28 12 10 8 Benign 12.73 38551 chr2 241404499 241404499 C T rs2228327 GPC1 Synonymous SNV S380S 0.314 0.323 0.259 121 369 124 0.31 76 69 25 6 20 11.59 38552 chr1 41483685 41483685 G A rs147944502 SLFNL1 Synonymous SNV S193S 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 3.531 38553 chr2 241451350 241451350 C T rs10427348 ANKMY1 Synonymous SNV T508T 0.117 0.109 0.105 40 137 42 0.103 31 8 3 2 3 11.38 38554 chr1 26688181 26688181 G C rs11583897 ZNF683 Synonymous SNV A492A 0.108 0.076 0.092 24 127 29 0.062 27 13 0 1 2 5.93 38555 chr2 241463595 241463595 T C rs35996697 ANKMY1 Nonsynonymous SNV I194M 0.233 0.284 0.279 87 274 109 0.223 82 31 14 13 12 0.003 38556 chr2 241468671 241468671 G A rs141683622 ANKMY1 Nonsynonymous SNV R157W 0.005 0.003 0.014 0 6 1 0 4 0 0 0 0 26.2 38557 chr2 241492341 241492341 C T rs146091106 ANKMY1 Nonsynonymous SNV R68Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 38558 chr11 32125017 32125017 C T rs764926971 RCN1 Synonymous SNV D293D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.04 38559 chr2 241496770 241496770 C A rs62621191 ANKMY1 0.199 0.242 0.214 68 234 93 0.174 63 26 7 10 7 15.91 38560 chr1 248525071 248525071 T C rs28499298 OR2T4 Synonymous SNV I63I 0.082 0.083 0.15 25 96 32 0.064 44 9 7 8 4 0.256 38561 chr2 241531414 241531414 G A rs139668112 CAPN10 Nonsynonymous SNV G179S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.7 38562 chr11 3661353 3661353 T C rs549358265 ART5 Synonymous SNV S102S 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 0.332 38563 chr1 27023366 27023366 C T rs567246585 ARID1A Nonsynonymous SNV P158S 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 9.726 38564 chr1 39361656 39361656 A G RHBDL2 Synonymous SNV F278F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 1.608 38565 chr1 27709020 27709020 T C rs2504779 CD164L2 Nonsynonymous SNV M76V 0.125 0.141 0.129 49 147 54 0.126 38 6 0 2 0 0.003 38566 chr2 241627928 241627928 A G rs1560619 LOC285191 0 0 0.684 0 0 0 0 201 0 0 69 0 0.024 38567 chr1 39924765 39924765 C A rs142411922 MACF1 Synonymous SNV S5009S 0.003 0.01 0.003 4 3 4 0.01 1 0 0 0 0 13.3 38568 chr2 241700676 241700676 G A rs35945835 KIF1A Synonymous SNV A736A 0.085 0.109 0.139 31 100 42 0.079 41 6 2 2 3 Benign 11.57 38569 chr1 235894174 235894174 T C rs140934482 LYST Nonsynonymous SNV K3006R 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Uncertain significance 23.9 38570 chr1 248525285 248525285 T C rs28637620 OR2T4 Nonsynonymous SNV F135L 0.027 0.039 0.099 10 32 15 0.026 29 8 7 1 4 0.002 38571 chr1 40131775 40131775 G A NT5C1A Nonsynonymous SNV P90L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 22.1 38572 chr1 227920103 227920103 G A rs3087908 JMJD4 Nonsynonymous SNV A445V 0.128 0.115 0.109 36 150 44 0.092 32 8 5 2 3 1.984 38573 chr1 28120059 28120059 C A STX12 Nonsynonymous SNV H68Q 0.008 0.005 0 0 9 2 0 0 1 0 0 0 18.8 38574 chr1 248525290 248525290 C T rs202028348 OR2T4 Synonymous SNV Y136Y 0.044 0.052 0.112 10 52 20 0.026 33 8 7 3 4 8.101 38575 chr1 40214648 40214648 C T rs112803459 PPIE Synonymous SNV P194P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 17.77 38576 chr1 248525291 248525291 G C rs28540568 OR2T4 Nonsynonymous SNV V137L 0.045 0.06 0.126 11 53 23 0.028 37 8 7 5 4 0.001 38577 chr1 40310221 40310221 G A rs16826617 TRIT1 Synonymous SNV I284I 0.03 0.023 0.034 15 35 9 0.038 10 2 0 0 0 14.82 38578 chr1 236341829 236341829 C T rs745612968 GPR137B Stop gain R194X 0.004 0 0 5 5 0 0.013 0 0 0 0 0 40 38579 chr11 4608262 4608262 A C rs12793957 OR52I2 Nonsynonymous SNV I74L 0.051 0.049 0.197 24 60 19 0.062 58 23 7 2 9 0.001 38580 chr1 236187413 236187413 G A rs143743775 NID1 Synonymous SNV C695C 0.016 0.008 0.01 1 19 3 0.003 3 0 0 0 0 Benign 13.95 38581 chr1 42915727 42915727 C G rs12047095 ZMYND12 Synonymous SNV G38G 0.227 0.245 0.221 87 267 94 0.223 65 32 12 6 6 11.61 38582 chr1 28891260 28891260 T C rs150953153 TRNAU1AP Synonymous SNV D108D 0.043 0.052 0.061 15 50 20 0.038 18 2 1 0 0 5.017 38583 chr1 43042703 43042703 C T rs12049046 CCDC30 Synonymous SNV L290L 0.225 0.245 0.221 86 264 94 0.221 65 29 12 6 6 11.39 38584 chr1 43047057 43047057 A G rs12037518 CCDC30 Synonymous SNV E364E 0.189 0.221 0.19 83 222 85 0.213 56 29 13 6 6 9.995 38585 chr1 227963491 227963491 G T rs754224 SNAP47 Nonsynonymous SNV G417V 0.124 0.107 0.116 36 145 41 0.092 34 7 4 2 3 0.984 38586 chr1 28282206 28282206 C T rs3813804 SMPDL3B Synonymous SNV V234V 0.241 0.276 0.248 83 283 106 0.213 73 33 18 10 5 10.03 38587 chr2 242033770 242033770 T A rs2302047 MTERF4 Nonsynonymous SNV T200S 0.204 0.247 0.272 75 240 95 0.192 80 28 8 12 9 7.916 38588 chr1 228003839 228003839 C T rs79840641 PRSS38 Nonsynonymous SNV A66V 0.095 0.068 0.071 27 112 26 0.069 21 8 2 1 1 22.1 38589 chr2 242066314 242066314 T C rs2240542 PASK Synonymous SNV A672A 0.335 0.385 0.357 120 393 148 0.308 105 70 24 18 18 0.347 38590 chr2 242072357 242072357 G A rs34401965 PASK Synonymous SNV T465T 0.086 0.086 0.082 35 101 33 0.09 24 8 1 1 2 7.339 38591 chr2 242082262 242082262 T C rs6709462 PASK Synonymous SNV T62T 0.476 0.539 0.422 190 559 207 0.487 124 136 54 33 48 0.064 38592 chr1 228113073 228113073 C T rs8192628 WNT9A Synonymous SNV T81T 0.008 0.003 0 0 9 1 0 0 0 0 0 0 14.72 38593 chr2 242141719 242141719 C T rs2074840 ANO7 Synonymous SNV D241D 0.657 0.656 0.663 261 771 252 0.669 195 250 76 65 85 1.01 38594 chr1 40773149 40773149 T C rs2228564 COL9A2 Nonsynonymous SNV Q326R 0.202 0.203 0.207 74 237 78 0.19 61 26 8 5 7 Benign 4.598 38595 chr1 43738829 43738829 G A rs142942435 TMEM125 Nonsynonymous SNV A146T 0.013 0.01 0.007 2 15 4 0.005 2 0 0 0 0 1.74 38596 chr1 228391808 228391808 G T rs11800309 OBSCN-AS1 0.195 0.143 0.218 78 229 55 0.2 64 24 4 3 12 34 38597 chr1 40882747 40882747 G A rs41312030 SMAP2 Synonymous SNV Q351Q 0.031 0.026 0.027 12 36 10 0.031 8 0 0 0 0 6.233 38598 chr1 228393260 228393260 C A rs74142645 OBSCN-AS1 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 0.103 38599 chr1 40929087 40929087 C T rs142494383 ZFP69B Synonymous SNV C477C 0.011 0.021 0.01 2 13 8 0.005 3 0 0 0 0 12 38600 chr1 248789822 248789822 A C rs75010552 OR2T11 Nonsynonymous SNV M203R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.2 38601 chr1 237755076 237755076 A G rs56229512 RYR2 Nonsynonymous SNV S1400G 0.013 0.021 0.02 5 15 8 0.013 6 0 1 0 0 Benign/Likely benign 14.81 38602 chr2 242407746 242407746 A G rs10933559 FARP2 Synonymous SNV L695L 0.251 0.276 0.214 101 295 106 0.259 63 32 19 6 17 2.7 38603 chr2 242483939 242483944 ATATAC - rs71049583 BOK-AS1 0 0 0.248 0 0 0 0 73 0 0 29 0 38604 chr1 41486245 41486245 C T rs1138293 SLFNL1 Nonsynonymous SNV A30T 0.22 0.229 0.184 85 258 88 0.218 54 32 12 7 11 0.001 38605 chr1 228444385 228444385 T C rs112216954 OBSCN Nonsynonymous SNV V1448A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 0.001 38606 chr1 31426815 31426815 A G rs2275741 PUM1 Synonymous SNV N779N 0.315 0.31 0.327 117 370 119 0.3 96 65 20 16 15 2.134 38607 chr1 228461999 228461999 C T rs200976664 OBSCN Nonsynonymous SNV T1846M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 11.1 38608 chr2 242945697 242945697 T C rs10191960 LOC285097 0 0 0.503 0 0 0 0 148 0 0 56 0 4.244 38609 chr1 32196647 32196647 C G rs909001 ADGRB2 Synonymous SNV P1345P 0.173 0.154 0.129 53 203 59 0.136 38 14 2 3 5 0.407 38610 chr1 32221913 32221913 G A rs4949223 ADGRB2 Synonymous SNV P175P 0.125 0.138 0.092 40 147 53 0.103 27 4 2 0 4 7.394 38611 chr1 241907706 241907706 C T rs41310585 WDR64 Synonymous SNV L494L 0.012 0.018 0.014 8 14 7 0.021 4 0 0 0 0 14.15 38612 chr1 2535636 2535636 C A rs752861108 MMEL1 Nonsynonymous SNV V301L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 38613 chr2 24439048 24439048 A G rs3731625 ITSN2 Nonsynonymous SNV I1247T 0.101 0.112 0.092 30 118 43 0.077 27 1 3 2 2 24.5 38614 chr1 228479825 228479825 C T rs200826459 OBSCN Synonymous SNV C3522C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 15.99 38615 chr1 24201711 24201711 G T rs41311993 CNR2 Nonsynonymous SNV L133I 0.009 0.016 0.01 1 11 6 0.003 3 0 0 0 0 15.5 38616 chr1 45218895 45218895 A T rs3795713 KIF2C Synonymous SNV R123R 0.128 0.115 0.119 56 150 44 0.144 35 16 3 5 3 6.818 38617 chr2 25022598 25022598 A G rs1550116 CENPO Nonsynonymous SNV Q28R 0.157 0.174 0.143 77 184 67 0.197 42 12 1 2 6 0.001 38618 chr1 32196889 32196889 G A rs10914473 ADGRB2 Synonymous SNV L1265L 0.03 0.031 0.017 10 35 12 0.026 5 0 0 0 0 3.929 38619 chr1 45224998 45224998 A C rs4342887 KIF2C Nonsynonymous SNV I408L 0.127 0.112 0.112 56 149 43 0.144 33 16 3 4 3 23.4 38620 chr1 45226084 45226084 G A rs1140279 KIF2C Synonymous SNV A459A 0.128 0.112 0.109 57 150 43 0.146 32 16 3 4 3 7.894 38621 chr2 25064157 25064157 G C rs2241758 ADCY3 Synonymous SNV L389L 0.072 0.086 0.075 32 84 33 0.082 22 1 0 0 2 8.471 38622 chr1 228494216 228494216 C T rs200812111 OBSCN Nonsynonymous SNV R3935W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 16.42 38623 chr1 45241587 45241587 G A rs41269073 SNORD55 0.052 0.057 0.061 15 61 22 0.038 18 0 0 0 0 20.6 38624 chr1 45269348 45269348 G A rs17884531 PLK3 Synonymous SNV Q383Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 0.185 38625 chr2 25141434 25141434 G A rs61732745 ADCY3 Synonymous SNV Y141Y 0.083 0.091 0.109 44 98 35 0.113 32 0 0 0 3 0.388 38626 chr2 25141538 25141538 A G rs11676272 ADCY3 Nonsynonymous SNV S107P 0.481 0.456 0.429 182 565 175 0.467 126 135 39 24 43 1.207 38627 chr1 45270024 45270024 G C rs11211036 PLK3 Synonymous SNV P452P 0.127 0.115 0.116 56 149 44 0.144 34 15 3 5 3 6.427 38628 chr1 45271912 45271912 G A rs17886118 TCTEX1D4 Synonymous SNV D143D 0.126 0.115 0.116 57 148 44 0.146 34 15 3 5 3 2.761 38629 chr1 45292173 45292173 G A rs11573590 PTCH2 Nonsynonymous SNV T988M 0.019 0.016 0.024 5 22 6 0.013 7 0 0 1 0 Benign 14.73 38630 chr1 242121377 242121377 T G rs61736147 BECN2 Nonsynonymous SNV I103M 0.037 0.044 0.068 18 44 17 0.046 20 0 1 1 0 Benign 4.488 38631 chr2 25359422 25359422 G A rs3731631 EFR3B Synonymous SNV L470L 0.316 0.307 0.32 112 371 118 0.287 94 65 17 18 16 11.74 38632 chr1 43108188 43108188 G A rs12036818 CCDC30 Synonymous SNV L561L 0.089 0.091 0.102 28 105 35 0.072 30 10 1 0 1 5.014 38633 chr1 228503566 228503566 G A rs79023478 OBSCN Nonsynonymous SNV R4344Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 12.59 38634 chr1 33245802 33245802 C G rs699005 YARS Synonymous SNV L406L 0.075 0.086 0.058 32 88 33 0.082 17 3 0 0 0 Benign 11.5 38635 chr1 45293752 45293752 T C rs2295997 PTCH2 Synonymous SNV E607E 0.135 0.125 0.116 61 158 48 0.156 34 15 3 5 3 0.146 38636 chr1 45444038 45444038 G A rs11556200 EIF2B3 Synonymous SNV D81D 0.204 0.161 0.177 76 240 62 0.195 52 29 4 8 7 Benign 5.432 38637 chr1 43408966 43408966 G A rs1385129 SLC2A1 Synonymous SNV A15A 0.204 0.198 0.218 70 240 76 0.179 64 24 6 8 3 Benign 17.71 38638 chr1 45476663 45476663 G A rs2298005 HECTD3 Synonymous SNV L89L 0.213 0.19 0.177 77 250 73 0.197 52 28 4 6 7 7.285 38639 chr1 33402515 33402515 C T rs35462688 RNF19B Synonymous SNV S696S 0.046 0.042 0.031 17 54 16 0.044 9 0 0 0 0 12.37 38640 chr1 33402542 33402542 G C rs35756506 RNF19B Synonymous SNV P687P 0.046 0.042 0.031 17 54 16 0.044 9 0 0 0 0 4.548 38641 chr1 240256171 240256171 G A rs142232913 FMN2 Synonymous SNV L254L 0.014 0.008 0.007 6 17 3 0.015 2 0 0 0 0 10.42 38642 chr2 26667130 26667130 A G rs3795958 DRC1 Nonsynonymous SNV K357E 0.16 0.214 0.211 74 188 82 0.19 62 21 10 6 8 Benign 26.7 38643 chr1 2409007 2409007 C T rs375907619 PLCH2 Synonymous SNV T16T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.665 38644 chr1 3395174 3395174 C A rs61734742 ARHGEF16 Synonymous SNV S604S 0.043 0.047 0.027 15 50 18 0.038 8 1 1 0 0 0.254 38645 chr1 33957130 33957130 C A rs3795419 ZSCAN20 Synonymous SNV A424A 0.144 0.125 0.143 49 169 48 0.126 42 12 1 2 4 12.84 38646 chr1 228524756 228524756 T C rs200706907 OBSCN Nonsynonymous SNV V5530A 0.01 0.021 0 4 12 8 0.01 0 0 0 0 0 Likely benign 26.3 38647 chr2 26712561 26712561 C T rs41288779 OTOF Synonymous SNV K315K 0.04 0.047 0.031 17 47 18 0.044 9 1 1 0 0 Benign/Likely benign 13.86 38648 chr2 26800422 26800422 G A rs1053807 FAM166C Nonsynonymous SNV G117R 0.566 0.536 0.527 217 665 206 0.556 155 194 58 40 54 3.241 38649 chr1 43805240 43805240 A G rs16830693 MPL Synonymous SNV E230E 0.038 0.034 0.017 13 45 13 0.033 5 0 0 0 0 Benign 8.969 38650 chr2 27245161 27245161 C T rs149090215 MAPRE3 Synonymous SNV N25N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.59 38651 chr1 43826794 43826794 G A rs1801456 CDC20 Nonsynonymous SNV V361I 0.016 0.016 0.003 6 19 6 0.015 1 0 0 0 0 Benign 19.07 38652 chr2 27260469 27260469 G A rs1124649 TMEM214 Nonsynonymous SNV V306M 0.328 0.315 0.378 126 385 121 0.323 111 64 20 20 24 31 38653 chr1 228547511 228547511 G A rs115442906 OBSCN Synonymous SNV T6306T 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 4.292 38654 chr1 3410581 3410581 G A rs61746168 MEGF6 Nonsynonymous SNV H1413Y 0.036 0.031 0.034 12 42 12 0.031 10 2 0 0 0 0.063 38655 chr1 228548116 228548116 C A rs114563230 OBSCN Nonsynonymous SNV T6508K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 11.27 38656 chr1 43898053 43898053 T G rs12129487 SZT2 Synonymous SNV S1738S 0.044 0.052 0.034 25 52 20 0.064 10 1 0 0 0 Benign 0.206 38657 chr2 27315252 27315252 G A rs2304681 KHK Nonsynonymous SNV V49I 0.4 0.352 0.435 147 470 135 0.377 128 94 24 32 27 Benign 23.2 38658 chr1 3410644 3410644 A G rs61742508 MEGF6 Nonsynonymous SNV W1392R 0.034 0.026 0.031 11 40 10 0.028 9 2 0 0 0 0.006 38659 chr2 27323385 27323385 C T rs1131375 CGREF1 Synonymous SNV L104L 0.389 0.357 0.415 141 457 137 0.362 122 87 24 29 23 Benign 12.68 38660 chr1 3411038 3411038 G A rs61730954 MEGF6 Synonymous SNV A1342A 0.023 0.023 0.031 10 27 9 0.026 9 0 0 0 0 9.285 38661 chr1 245851328 245851328 C T rs76570797 KIF26B Synonymous SNV S1681S 0.013 0.003 0.007 9 15 1 0.023 2 0 0 0 0 11.83 38662 chr1 3411184 3411184 G A rs78747258 MEGF6 Synonymous SNV C1331C 0.023 0.023 0.031 10 27 9 0.026 9 0 0 0 0 1.703 38663 chr1 228558849 228558849 C T rs147337644 OBSCN Synonymous SNV S6790S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.73 38664 chr2 27424304 27424304 C T rs140443329 SLC5A6 Nonsynonymous SNV R521Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.21 38665 chr1 46499526 46499526 A G rs1052607 MAST2 Nonsynonymous SNV K1197R 0.064 0.086 0.071 31 75 33 0.079 21 2 1 0 2 18.55 38666 chr1 228558892 228558892 C T rs35186354 OBSCN Nonsynonymous SNV R6805W 0.122 0.094 0.068 41 143 36 0.105 20 10 2 0 2 31 38667 chr1 46500251 46500251 G A rs33931638 MAST2 Nonsynonymous SNV V1303M 0.062 0.086 0.071 29 73 33 0.074 21 2 1 0 2 24.6 38668 chr1 3427351 3427351 A G rs2821000 MEGF6 Synonymous SNV C410C 0.03 0.036 0.034 16 35 14 0.041 10 0 0 0 0 0.023 38669 chr2 27466368 27466368 C T rs2304684 CAD Synonymous SNV T2157T 0.017 0.013 0.017 8 20 5 0.021 5 0 0 0 0 16.7 38670 chr2 27730940 27730940 T C rs1260326 GCKR Nonsynonymous SNV L446P 0.467 0.508 0.388 187 548 195 0.479 114 127 53 26 43 association 0.108 38671 chr1 24690676 24690676 G A rs6694170 GRHL3 Nonsynonymous SNV E566K 0.038 0.044 0.034 24 45 17 0.062 10 1 0 0 0 Benign 20.7 38672 chr1 46751656 46751656 C T rs745832633 LRRC41 Synonymous SNV R291R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.33 38673 chr1 242048680 242048680 G A rs4150001 EXO1 Nonsynonymous SNV G759E 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Benign/Likely benign 22 38674 chr1 46977812 46977812 T C rs61751016 DMBX1 Synonymous SNV R265R 0.034 0.044 0.058 15 40 17 0.038 17 0 0 1 1 0.982 38675 chr1 34673759 34673759 G T rs201753293 C1orf94 Nonsynonymous SNV G483V 0.007 0.003 0 0 8 1 0 0 1 0 0 0 26.8 38676 chr1 45272315 45272315 C G rs746104638 TCTEX1D4 Nonsynonymous SNV G9A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.02 38677 chr2 27930837 27930837 C T rs4665385 LINC01460 0 0 0.143 0 0 0 0 42 0 0 1 0 23.8 38678 chr1 36225967 36225967 T C rs1009738401 CLSPN Nonsynonymous SNV I519V 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 11.39 38679 chr1 45525815 45525815 C T rs189349232 ZSWIM5 Nonsynonymous SNV G353S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 23.9 38680 chr11 48239182 48239182 C T rs7130086 OR4B1 Nonsynonymous SNV T274M 0.06 0.068 0.024 20 71 26 0.051 7 0 2 0 0 24.5 38681 chr1 27720405 27720405 G A rs116605856 GPR3 Nonsynonymous SNV A35T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.001 38682 chr1 45798286 45798286 C T rs147754007 MUTYH Nonsynonymous SNV R74H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 29.4 38683 chr1 22927891 22927891 G T rs755260283 EPHA8 Nonsynonymous SNV R943L 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 32 38684 chr1 45973923 45973923 G A rs201617713 MMACHC Nonsynonymous SNV E49K 0.006 0 0 4 7 0 0.01 0 0 0 0 0 Uncertain significance 27.6 38685 chr2 29092679 29092679 T C rs4233729 TRMT61B Synonymous SNV E155E 0.349 0.32 0.354 150 410 123 0.385 104 66 19 20 32 1.256 38686 chr2 29092850 29092850 G T rs4666122 TRMT61B Synonymous SNV S98S 0.348 0.318 0.354 150 409 122 0.385 104 66 19 20 32 2.914 38687 chr1 3544187 3544187 C T rs113982697 TPRG1L Synonymous SNV G198G 0.016 0.026 0.02 10 19 10 0.026 6 0 0 0 0 18.4 38688 chr1 229772932 229772932 A G rs3811474 URB2 Nonsynonymous SNV K858E 0.06 0.055 0.037 23 70 21 0.059 11 0 0 0 1 6.432 38689 chr1 229773441 229773441 C T rs3811475 URB2 Synonymous SNV T1027T 0.059 0.055 0.037 23 69 21 0.059 11 0 0 0 1 17.11 38690 chr2 29240060 29240060 A G rs11127202 TOGARAM2 Nonsynonymous SNV Q362R 0.244 0.24 0.231 106 286 92 0.272 68 36 8 9 14 3.434 38691 chr2 29240673 29240673 G A rs35166194 TOGARAM2 Nonsynonymous SNV R404Q 0.245 0.237 0.228 104 288 91 0.267 67 35 8 9 14 25.8 38692 chr2 29240686 29240686 A C rs34261417 TOGARAM2 Synonymous SNV T408T 0.241 0.237 0.228 104 283 91 0.267 67 35 8 9 14 0.002 38693 chr2 29240783 29240783 A G rs1109758 TOGARAM2 Nonsynonymous SNV I441V 0.359 0.365 0.32 145 422 140 0.372 94 76 24 15 25 0.001 38694 chr1 48708228 48708228 G T rs850763 SLC5A9 Stop gain E593X 0.158 0.167 0.173 68 186 64 0.174 51 17 2 6 5 35 38695 chr1 247615045 247615045 C T rs78223085 OR2B11 Synonymous SNV T80T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 3.091 38696 chr1 2447111 2447111 G A rs770305649 PANK4 Synonymous SNV L422L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 11.43 38697 chr1 244715966 244715966 G A rs35587664 CATSPERE Synonymous SNV S142S 0.037 0.023 0.041 8 43 9 0.021 12 0 0 0 0 1.17 38698 chr1 36563524 36563524 G A rs35841184 COL8A2 Synonymous SNV P521P 0.032 0.029 0.037 12 38 11 0.031 11 2 0 0 0 7.473 38699 chr1 245165499 245165506 ACCATCAC - EFCAB2 H8Nfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 38700 chr1 49511424 49511424 A G rs3934240 AGBL4 Synonymous SNV H154H 0.173 0.156 0.211 62 203 60 0.159 62 9 6 6 6 2.635 38701 chr1 36820927 36820927 G A rs11263875 STK40 Synonymous SNV S155S 0.166 0.156 0.204 69 195 60 0.177 60 12 4 3 7 13.18 38702 chr11 5510616 5510616 C T OR52D1 Nonsynonymous SNV A227V 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 23.5 38703 chr1 24771721 24771721 G A rs144375095 NIPAL3 Synonymous SNV P126P 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 13.97 38704 chr11 5529597 5529597 C T rs769749020 UBQLN3 Nonsynonymous SNV E398K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.65 38705 chr1 51912760 51912760 T G rs34704431 EPS15 Synonymous SNV A223A 0.055 0.057 0.041 20 65 22 0.051 12 4 2 0 1 0.183 38706 chr1 246704348 246704348 G A rs143882766 TFB2M Synonymous SNV T392T 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 5.982 38707 chr1 52264013 52264013 C T rs140738363 NRDC Nonsynonymous SNV G838S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 38708 chr11 48346996 48346996 G A rs12794960 OR4C3 Nonsynonymous SNV M141I 0.128 0.138 0.112 50 150 53 0.128 33 0 0 0 0 8.074 38709 chr1 247031023 247031023 G A AHCTF1 Nonsynonymous SNV S1060F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 38710 chr1 23418833 23418833 T C rs200226163 LUZP1 Nonsynonymous SNV H641R 0.011 0.01 0.003 3 13 4 0.008 1 0 0 0 0 20.7 38711 chr1 31211894 31211894 G A rs34101571 LAPTM5 Nonsynonymous SNV P135S 0.008 0.005 0.017 4 9 2 0.01 5 0 0 0 0 23.3 38712 chr2 31135184 31135184 G T rs2288101 GALNT14 Nonsynonymous SNV S392R 0.237 0.255 0.248 85 278 98 0.218 73 35 14 7 7 24.3 38713 chr1 53569230 53569230 T A rs114930372 SLC1A7 Nonsynonymous SNV K90M 0.048 0.036 0.051 16 56 14 0.041 15 0 1 0 0 24.5 38714 chr1 47279175 47279175 C T rs4646487 CYP4B1 Nonsynonymous SNV R10W 0.113 0.128 0.109 37 133 49 0.095 32 12 2 2 1 25.2 38715 chr2 31414851 31414851 T C rs7587515 CAPN14 Nonsynonymous SNV R410G 0.037 0.047 0.034 8 43 18 0.021 10 3 2 1 0 21.3 38716 chr1 39340558 39340558 G A rs75632250 GJA9 Nonsynonymous SNV P405S 0.028 0.018 0.02 17 33 7 0.044 6 0 0 0 0 0.175 38717 chr2 31417290 31417290 T C rs76523220 CAPN14 Nonsynonymous SNV N312S 0.039 0.039 0.027 8 46 15 0.021 8 3 1 0 0 22.1 38718 chr1 39340866 39340866 G T rs753164038 GJA9 Stop gain S302X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 38719 chr2 32800422 32800422 C G rs35286811 BIRC6 Synonymous SNV T4448T 0.129 0.154 0.112 44 152 59 0.113 33 10 5 0 3 11.28 38720 chr1 54605318 54605318 - GG rs3841798 CDCP2 Frameshift insertion M409Pfs*2 0.096 0.096 0.092 41 113 37 0.105 27 9 5 2 2 38721 chr1 39879366 39879366 T C rs604316 KIAA0754 Synonymous SNV P1143P 0.225 0.19 0.224 57 264 73 0.146 66 57 10 14 11 0.062 38722 chr11 48347476 48347476 A G rs368377692 OR4C3 Synonymous SNV T301T 0.009 0.016 0 5 11 6 0.013 0 0 0 0 0 0.366 38723 chr2 33150678 33150678 C T rs897507 LINC00486 0 0 0.466 0 0 0 0 137 0 0 34 0 2.851 38724 chr2 33150720 33150720 A G rs897508 LINC00486 0 0 0.663 0 0 0 0 195 0 0 61 0 1.354 38725 chr1 48267174 48267174 C T rs147317864 TRABD2B Nonsynonymous SNV A262T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.9 38726 chr2 33335818 33335818 C T rs17012574 LTBP1 Synonymous SNV L345L 0.026 0.029 0.034 9 31 11 0.023 10 1 0 1 1 9.246 38727 chr11 5729419 5729419 T C rs112606816 TRIM22 Synonymous SNV L260L 0.013 0.016 0.007 5 15 6 0.013 2 0 0 0 0 0.041 38728 chr1 236154305 236154305 C T rs200467845 NID1 Nonsynonymous SNV V937M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 38729 chr1 33231380 33231380 T G rs6694085 KIAA1522 Nonsynonymous SNV F4V 0.193 0.195 0.16 88 226 75 0.226 47 22 11 4 9 14.4 38730 chr1 33231403 33231403 G T rs6702519 KIAA1522 Synonymous SNV A11A 0.193 0.195 0.16 88 226 75 0.226 47 22 11 4 9 9.342 38731 chr1 33236852 33236852 C G rs115626337 KIAA1522 Nonsynonymous SNV A632G 0.019 0.021 0.024 10 22 8 0.026 7 1 0 0 0 5.268 38732 chr2 33952022 33952022 C A rs4670913 MYADML 0 0 0.728 0 0 0 0 214 0 0 90 0 6.33 38733 chr2 33952055 33952055 C G rs2290101 MYADML 0 0 0.619 0 0 0 0 182 0 0 58 0 2.207 38734 chr2 33952413 33952413 T C rs4477896 MYADML 0 0 0.776 0 0 0 0 228 0 0 91 0 4.337 38735 chr1 51796888 51796888 C T rs112434708 TTC39A-AS1 0.026 0.018 0.051 7 30 7 0.018 15 0 0 1 1 6.495 38736 chr2 33952456 33952456 C G rs2367810 MYADML 0 0 0.993 0 0 0 0 292 0 0 145 0 5.203 38737 chr1 55134585 55134585 A G rs2304314 MROH7 Nonsynonymous SNV K455R 0.05 0.034 0.034 15 59 13 0.038 10 0 0 0 0 25.3 38738 chr2 33952621 33952621 G A rs11684598 MYADML 0 0 0.449 0 0 0 0 132 0 0 30 0 7.225 38739 chr1 51912694 51912694 T C rs35371705 EPS15 Synonymous SNV G245G 0.014 0.01 0.02 2 16 4 0.005 6 0 0 0 0 1.982 38740 chr1 52266242 52266242 G A rs8375 NRDC Synonymous SNV P809P 0.471 0.474 0.503 200 553 182 0.513 148 125 39 39 58 12.32 38741 chr2 3483181 3483181 C T rs13986 TRAPPC12 Synonymous SNV V719V 0.151 0.169 0.133 57 177 65 0.146 39 9 7 3 4 7.441 38742 chr1 52290984 52290984 T G rs11205896 NRDC Synonymous SNV G337G 0.451 0.458 0.463 194 530 176 0.497 136 123 37 38 55 9.054 38743 chr2 37241050 37241050 G A rs17020125 HEATR5B Synonymous SNV S1406S 0.175 0.195 0.204 74 206 75 0.19 60 16 3 9 7 9.609 38744 chr1 41285553 41285553 T C rs55737429 KCNQ4 Synonymous SNV L281L 0.075 0.102 0.065 26 88 39 0.067 19 5 1 1 0 Benign 3.116 38745 chr2 37406644 37406644 A G rs10182091 SULT6B1 Synonymous SNV Y162Y 0.232 0.229 0.235 85 272 88 0.218 69 30 5 6 9 0.66 38746 chr2 37406680 37406680 C G rs10205833 SULT6B1 Nonsynonymous SNV L150F 0.232 0.229 0.231 85 272 88 0.218 68 30 5 6 9 6.65 38747 chr1 53544513 53544513 C T rs12567021 PODN Nonsynonymous SNV T492M 0.016 0.018 0.031 5 19 7 0.013 9 0 0 0 0 19.36 38748 chr1 41283849 41283849 T C rs200053059 KCNQ4 Nonsynonymous SNV I140T 0.009 0.003 0 0 10 1 0 0 0 0 0 0 29.4 38749 chr1 41481596 41481596 A G rs41308248 SLFNL1-AS1 0.136 0.169 0.078 42 160 65 0.108 23 11 8 1 2 5.262 38750 chr2 3800383 3800383 C T rs357969 DCDC2C Synonymous SNV G58G 0.572 0.547 0.551 229 671 210 0.587 162 188 58 45 66 15.67 38751 chr2 38908466 38908466 G A rs575533020 GALM Synonymous SNV S130S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.276 38752 chr2 38960661 38960661 G A rs575045929 GALM Nonsynonymous SNV G328D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.6 38753 chr1 54483792 54483792 G T rs116802374 LDLRAD1 Synonymous SNV R20R 0.027 0.026 0.041 8 32 10 0.021 12 0 1 1 0 1.453 38754 chr1 42657196 42657196 T G rs1139978 FOXJ3 Nonsynonymous SNV T343P 0.155 0.135 0.139 60 182 52 0.154 41 12 3 1 2 12.58 38755 chr11 5922399 5922399 C T rs139871993 OR52E5 Synonymous SNV P135P 0.011 0.008 0.007 5 13 3 0.013 2 0 0 0 0 14.64 38756 chr1 56977819 56977819 G A rs3738570 PLPP3 Synonymous SNV Y213Y 0.099 0.091 0.105 27 116 35 0.069 31 6 2 3 0 7.833 38757 chr2 42275819 42275819 T C rs11897440 PKDCC Synonymous SNV G160G 0.433 0.432 0.395 150 508 166 0.385 116 102 35 28 26 7.801 38758 chr1 57415310 57415310 G A rs12085435 C8B Nonsynonymous SNV P261L 0.081 0.089 0.058 22 95 34 0.056 17 3 1 0 0 4.378 38759 chr1 57422511 57422511 C T rs12067507 C8B Nonsynonymous SNV E108K 0.081 0.089 0.061 22 95 34 0.056 18 3 1 0 0 26.3 38760 chr1 43212751 43212751 G A rs150862153 P3H1 Synonymous SNV N749N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.285 38761 chr1 237765333 237765333 G A rs201916326 RYR2 Synonymous SNV P1535P 0.02 0.01 0.007 6 24 4 0.015 2 0 0 0 0 Benign/Likely benign 12.43 38762 chr1 43630156 43630156 A C rs11559311 EBNA1BP2 Synonymous SNV P293P 0.05 0.049 0.014 23 59 19 0.059 4 1 1 0 0 2.499 38763 chr1 237778067 237778067 A T rs727504792 RYR2 Nonsynonymous SNV E1880V 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 14.1 38764 chr1 43630315 43630315 T A rs11559312 EBNA1BP2 Nonsynonymous SNV N290I 0.009 0.008 0.003 10 11 3 0.026 1 0 0 0 0 Benign 26.9 38765 chr2 44099433 44099433 C A rs4148217 ABCG8 Nonsynonymous SNV T399K 0.204 0.25 0.231 99 239 96 0.254 68 26 15 6 15 Benign 14.8 38766 chr1 43699970 43699970 G A rs2484714 CFAP57 Synonymous SNV L1082L 0.076 0.099 0.082 29 89 38 0.074 24 3 4 0 0 0.485 38767 chr2 44100939 44100939 A G rs140373311 ABCG8 Nonsynonymous SNV N408D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.4 38768 chr1 3697663 3697663 C T rs11547615 LRRC47 Nonsynonymous SNV V581I 0.023 0.021 0.024 5 27 8 0.013 7 1 0 0 0 14.5 38769 chr1 5965455 5965455 C T rs571655 NPHP4 Nonsynonymous SNV E106K 0.029 0.029 0.034 9 34 11 0.023 10 0 0 0 0 Benign 23.3 38770 chr1 43638436 43638436 G T rs6695238 CFAP57 Synonymous SNV V4V 0.05 0.049 0.014 23 59 19 0.059 4 1 1 0 0 8.73 38771 chr1 5969245 5969245 G A rs12116997 NPHP4 Synonymous SNV L490L 0.035 0.039 0.027 12 41 15 0.031 8 0 0 0 0 Benign 4.537 38772 chr1 3786245 3786245 G A rs12738235 DFFB Nonsynonymous SNV R220K 0.059 0.073 0.068 27 69 28 0.069 20 0 0 0 0 0.452 38773 chr1 60330883 60330883 C G rs17119807 HOOK1 Synonymous SNV L570L 0.023 0.005 0.024 10 27 2 0.026 7 0 0 0 1 12.78 38774 chr1 60373500 60373500 G T rs2229191 CYP2J2 Synonymous SNV R321R 0.023 0.005 0.024 10 27 2 0.026 7 0 0 0 1 5.442 38775 chr2 45640374 45640374 C A rs3755073 SRBD1 Nonsynonymous SNV V798F 0.129 0.143 0.143 49 152 55 0.126 42 7 4 4 4 13.21 38776 chr1 6046264 6046264 G A rs12142270 NPHP4 Nonsynonymous SNV T29M 0.032 0.039 0.027 15 38 15 0.038 8 0 0 0 0 Benign 17.93 38777 chr1 38185647 38185647 G A rs2170809 EPHA10 Synonymous SNV F832F 0.114 0.161 0.126 50 134 62 0.128 37 6 4 2 3 7.936 38778 chr2 45645512 45645512 C T rs2276655 SRBD1 Synonymous SNV T775T 0.118 0.133 0.139 48 139 51 0.123 41 6 4 4 4 18.21 38779 chr1 38185723 38185723 C T rs6670599 EPHA10 Nonsynonymous SNV R807Q 0.114 0.159 0.126 49 134 61 0.126 37 6 4 2 3 34 38780 chr2 46587803 46587803 G A rs141965374 EPAS1 Nonsynonymous SNV D161N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 38781 chr1 38186206 38186206 C G rs12726343 EPHA10 Synonymous SNV V743V 0.113 0.161 0.126 50 133 62 0.128 37 6 4 2 3 8.926 38782 chr2 47085398 47085398 C T rs2278711 LINC01119 0 0 0.544 0 0 0 0 160 0 0 47 0 3.974 38783 chr11 55110856 55110856 C T rs144092380 OR4A16 Synonymous SNV F60F 0.026 0.021 0.024 11 31 8 0.028 7 1 0 0 0 9.46 38784 chr1 38187453 38187453 G A rs33970734 EPHA10 Synonymous SNV A675A 0.112 0.156 0.126 49 131 60 0.126 37 6 4 2 3 12.22 38785 chr2 47220622 47220622 G A rs17480869 TTC7A Synonymous SNV E266E 0.174 0.172 0.187 73 204 66 0.187 55 16 4 3 8 9.522 38786 chr1 55538462 55538462 C T rs17410294 USP24 Synonymous SNV K2533K 0.167 0.185 0.116 54 196 71 0.138 34 18 5 2 1 14.62 38787 chr11 6423841 6423841 T C APBB1 Nonsynonymous SNV N187D 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 9.708 38788 chr1 38188740 38188740 C T rs12405650 EPHA10 Nonsynonymous SNV V645I 0.112 0.161 0.126 50 131 62 0.128 37 6 4 2 3 7.602 38789 chr2 47382342 47382342 G T rs815804 STPG4 Nonsynonymous SNV L17M 0.254 0.25 0.218 103 298 96 0.264 64 34 8 7 17 0.199 38790 chr11 6452560 6452560 C T rs201159600 HPX Nonsynonymous SNV G424S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 13.31 38791 chr1 38188768 38188768 C T rs17464871 EPHA10 Synonymous SNV L635L 0.113 0.161 0.126 50 133 62 0.128 37 6 4 2 3 8.998 38792 chr1 38188787 38188787 A G rs17511304 EPHA10 Nonsynonymous SNV L629P 0.113 0.164 0.126 50 133 63 0.128 37 6 4 2 3 6.43 38793 chr1 62257036 62257036 A C rs1286823 PATJ Nonsynonymous SNV E362A 0.135 0.128 0.116 51 159 49 0.131 34 16 3 1 2 24 38794 chr1 57333312 57333312 A G rs34047108 C8A Synonymous SNV A36A 0.007 0.013 0.014 4 8 5 0.01 4 0 0 0 0 6.963 38795 chr2 48010558 48010558 C A rs1042820 MSH6 Synonymous SNV R62R 0.256 0.242 0.218 76 301 93 0.195 64 40 10 8 4 Benign 13.41 38796 chr1 57383358 57383358 C T rs17300936 C8A Nonsynonymous SNV P575L 0.08 0.06 0.071 33 94 23 0.085 21 6 2 0 0 0.177 38797 chr2 48018081 48018081 A G rs1800932 MSH6 Synonymous SNV P92P 0.256 0.245 0.235 78 300 94 0.2 69 39 10 8 4 Benign 7.21 38798 chr1 38260117 38260117 C A rs561350278 MANEAL Nonsynonymous SNV P88H 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 22.3 38799 chr1 248512380 248512380 G A rs796544172 OR14C36 Nonsynonymous SNV V102M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.83 38800 chr1 44365291 44365291 C T rs12140044 ST3GAL3 Synonymous SNV G165G 0 0.008 0.003 0 0 3 0 1 0 0 0 0 Benign/Likely benign 20.7 38801 chr11 55433020 55433020 G A rs371943577 OR4C6 Synonymous SNV K126K 0.009 0.01 0 5 11 4 0.013 0 0 0 0 0 13.52 38802 chr1 248512786 248512786 C T rs190753425 OR14C36 Nonsynonymous SNV S237F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.7 38803 chr1 44605039 44605039 C G rs1296543 KLF18 Nonsynonymous SNV Q755H 0.015 0.013 0 7 18 5 0.018 0 0 0 0 0 1.077 38804 chr1 38464690 38464690 G A rs142528167 FHL3 Nonsynonymous SNV A96V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 26.4 38805 chr1 45269333 45269333 A G rs17886354 PLK3 Synonymous SNV T378T 0.083 0.06 0.061 24 97 23 0.062 18 0 1 2 0 0.035 38806 chr1 248525180 248525180 C T rs142091573 OR2T4 Nonsynonymous SNV L100F 0.014 0.008 0.007 1 16 3 0.003 2 0 0 0 0 13.31 38807 chr1 45271828 45271828 T C rs17885815 TCTEX1D4 Synonymous SNV V171V 0.148 0.164 0.167 46 174 63 0.118 49 9 4 3 1 3.111 38808 chr1 39340381 39340381 A G rs61745441 GJA9 Nonsynonymous SNV S464P 0.015 0.018 0.007 11 18 7 0.028 2 0 0 0 0 Benign 6.563 38809 chr1 25889633 25889633 C A rs121908326 LDLRAP1 Nonsynonymous SNV S202Y 0.011 0.018 0.01 1 13 7 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 38810 chr1 45169775 45169775 C T rs772552758 ARMH1 Synonymous SNV T218T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14 38811 chr1 45469176 45469176 A T rs12749251 HECTD3 Synonymous SNV P858P 0.102 0.115 0.095 43 120 44 0.11 28 7 1 1 0 0.049 38812 chr1 25944741 25944741 T C rs11247857 MAN1C1 Synonymous SNV R151R 0.017 0.026 0.041 8 20 10 0.021 12 0 0 1 0 9.678 38813 chr1 5965496 5965496 G A rs370529514 NPHP4 Nonsynonymous SNV S92F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 17.43 38814 chr2 51254786 51254786 G A NRXN1 Nonsynonymous SNV P209L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 38815 chr1 45516840 45516840 G A rs149837338 ZSWIM5 Synonymous SNV S446S 0.015 0.021 0.02 2 18 8 0.005 6 0 0 0 0 11.4 38816 chr2 54081548 54081548 C T rs34000641 GPR75 Nonsynonymous SNV A116T 0.063 0.039 0.054 25 74 15 0.064 16 3 0 1 3 12.03 38817 chr1 45800156 45800156 C T rs3219484 MUTYH Nonsynonymous SNV V22M 0.043 0.057 0.051 12 51 22 0.031 15 0 0 0 0 Benign/Likely benign 17.52 38818 chr2 54483272 54483272 C A rs61736715 TSPYL6 Nonsynonymous SNV S6I 0.113 0.102 0.088 41 133 39 0.105 26 5 4 3 1 11.05 38819 chr1 2488013 2488013 - TGGCCCACAGCCGCAGCAA TNFRSF14-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 38820 chr1 45810865 45810865 G A rs17853159 TESK2 Nonsynonymous SNV R372C 0.046 0.065 0.065 13 54 25 0.033 19 0 0 1 1 20.3 38821 chr2 54756740 54756740 C T rs1802889 RPL23AP32 0 0 0.677 0 0 0 0 199 0 0 69 0 6.928 38822 chr1 6204161 6204161 G A rs17436816 CHD5 Synonymous SNV Y619Y 0.165 0.203 0.214 74 194 78 0.19 63 11 7 3 7 7.153 38823 chr1 62232130 62232130 T C rs11207827 PATJ Synonymous SNV I123I 0.198 0.174 0.177 78 232 67 0.2 52 22 4 4 9 10.65 38824 chr1 63862207 63862207 G A ALG6 Nonsynonymous SNV G36S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 38825 chr1 245851609 245851609 C G rs150834033 KIF26B Nonsynonymous SNV P1775R 0.03 0.031 0.041 6 35 12 0.015 12 0 0 0 0 20.7 38826 chr1 46669276 46669276 A C rs62620991 LURAP1 Nonsynonymous SNV M60L 0.046 0.039 0.014 10 54 15 0.026 4 1 0 0 0 9.866 38827 chr1 246091276 246091276 T C rs41308150 SMYD3 Nonsynonymous SNV H220R 0.014 0.005 0.003 2 16 2 0.005 1 0 0 0 0 10.12 38828 chr1 46743900 46743900 C T rs1048771 RAD54L Synonymous SNV A550A 0.161 0.159 0.201 48 189 61 0.123 59 18 5 6 2 12.05 38829 chr1 63991267 63991267 T C rs217478 EFCAB7 Synonymous SNV D8D 0.376 0.328 0.361 139 441 126 0.356 106 86 20 21 28 0.014 38830 chr1 46746164 46746164 C T rs11542623 LRRC41 Nonsynonymous SNV V609I 0.161 0.159 0.201 48 189 61 0.123 59 18 5 6 2 23.4 38831 chr1 24658063 24658063 C G rs2486668 GRHL3 Nonsynonymous SNV D9E 0.078 0.099 0.099 41 91 38 0.105 29 4 2 0 2 18.17 38832 chr1 46774783 46774783 A G rs41292543 UQCRH Nonsynonymous SNV E22G 0.135 0.138 0.15 43 158 53 0.11 44 11 3 3 2 31 38833 chr1 26149540 26149540 G A rs775506266 LOC646471 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.898 38834 chr11 6942915 6942915 C T rs115522285 OR2D3 Nonsynonymous SNV S228F 0.005 0.01 0.01 2 6 4 0.005 3 0 0 0 0 10.72 38835 chr2 61577435 61577435 T C rs2166720 USP34 Synonymous SNV A489A 0.181 0.138 0.143 63 213 53 0.162 42 17 5 3 1 9.508 38836 chr1 46827456 46827456 A G rs9865 NSUN4 Nonsynonymous SNV I316V 0.156 0.156 0.214 56 183 60 0.144 63 14 3 7 5 9.889 38837 chr2 62067006 62067006 A C rs187695569 FAM161A Nonsynonymous SNV L378R 0.003 0.003 0.01 3 3 1 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.97 38838 chr1 247007113 247007113 T C rs146417813 AHCTF1 Nonsynonymous SNV K2170R 0.013 0.013 0 5 15 5 0.013 0 0 0 0 0 0.003 38839 chr1 47078674 47078674 C G MOB3C Nonsynonymous SNV R159P 0.008 0.003 0 6 9 1 0.015 0 0 0 0 0 23.5 38840 chr2 64189566 64189566 A G rs17028275 VPS54 Synonymous SNV Y200Y 0.055 0.057 0.041 17 64 22 0.044 12 2 1 0 0 0.007 38841 chr2 64567916 64567916 C G rs12473206 MIR4433A, MIR4433B 0 0 0.17 0 0 0 0 50 0 0 5 0 3.331 38842 chr2 65245365 65245365 G A rs759458 SLC1A4 Nonsynonymous SNV V101I 0.316 0.294 0.33 111 371 113 0.285 97 59 15 15 19 6.691 38843 chr2 65296798 65296798 G A rs7572857 CEP68 Nonsynonymous SNV G74S 0.255 0.258 0.197 78 299 99 0.2 58 37 12 4 9 0.004 38844 chr1 62734089 62734089 C T rs17123306 KANK4 Nonsynonymous SNV G73S 0.063 0.068 0.092 23 74 26 0.059 27 4 0 2 0 9.17 38845 chr2 65298839 65298839 A G rs17849707 CEP68 Synonymous SNV T203T 0.322 0.318 0.235 101 378 122 0.259 69 61 16 7 13 0.122 38846 chr1 65120426 65120426 C T rs147163913 CACHD1 Synonymous SNV H278H 0.002 0.01 0 0 2 4 0 0 0 0 0 0 14.4 38847 chr1 65147002 65147002 C T rs3828064 CACHD1 Synonymous SNV H860H 0.066 0.078 0.075 22 77 30 0.056 22 2 1 0 0 17.7 38848 chr1 6528589 6528589 C T rs3138150 PLEKHG5 Synonymous SNV T769T 0.066 0.078 0.095 21 77 30 0.054 28 3 3 0 1 Benign/Likely benign 11 38849 chr1 62739495 62739495 C T rs115190866 KANK4 Synonymous SNV S427S 0.032 0.029 0.027 14 38 11 0.036 8 1 0 0 1 10.92 38850 chr1 47144254 47144254 T A EFCAB14 Nonsynonymous SNV Y456F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.34 38851 chr1 6529183 6529185 TCC - rs113541584 PLEKHG5 E723del 0.065 0.076 0.095 23 76 29 0.059 28 3 3 0 1 38852 chr1 247267269 247267269 C T rs61730460 ZNF669 Nonsynonymous SNV C78Y 0.034 0.021 0.02 15 40 8 0.038 6 1 1 0 0 7.621 38853 chr1 6529443 6529443 A G rs730600 PLEKHG5 Synonymous SNV S667S 0.145 0.167 0.194 47 170 64 0.121 57 13 8 9 4 Benign 5.725 38854 chr1 62740264 62740264 T C rs41309173 KANK4 Nonsynonymous SNV H171R 0.032 0.029 0.027 14 38 11 0.036 8 1 0 0 1 0.001 38855 chr1 47279954 47279954 C T rs45463299 CYP4B1 Synonymous SNV H120H 0.024 0.018 0.003 8 28 7 0.021 1 1 0 0 0 Benign 12.48 38856 chr1 247492864 247492864 C G rs139310202 ZNF496 Nonsynonymous SNV C6S 0.015 0.005 0 2 18 2 0.005 0 0 0 0 0 25 38857 chr1 6531589 6531589 C T rs74809741 PLEKHG5 Nonsynonymous SNV A414T 0.066 0.078 0.088 22 77 30 0.056 26 3 3 0 1 Likely benign 12.65 38858 chr2 6790537 6790537 A G rs10192411 MIR7515, MIR7515HG 0 0 0.418 0 0 0 0 123 0 0 30 0 0.074 38859 chr1 6533393 6533393 G C rs61741379 PLEKHG5 Nonsynonymous SNV T238S 0.149 0.167 0.187 46 175 64 0.118 55 13 8 8 4 Benign 0.001 38860 chr1 4772053 4772053 T C rs1061968 AJAP1 Synonymous SNV C41C 0.323 0.341 0.384 127 379 131 0.326 113 61 19 20 13 0.004 38861 chr1 62740752 62740752 G A rs17123318 KANK4 Synonymous SNV D8D 0.062 0.07 0.085 21 73 27 0.054 25 4 0 1 0 9.154 38862 chr1 4772582 4772582 - CCA rs765760172 AJAP1 T225_A226insT 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 38863 chr1 247614657 247614657 A G rs73140586 OR2B11 Nonsynonymous SNV F210L 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 22.4 38864 chr2 69173570 69173570 C T rs1128272 GKN2 Nonsynonymous SNV S113N 0.149 0.133 0.126 49 175 51 0.126 37 12 4 5 3 0.018 38865 chr1 28864435 28864435 A G rs2227977 RCC1 Synonymous SNV K394K 0.053 0.057 0.075 14 62 22 0.036 22 1 0 0 0 10.91 38866 chr1 26887538 26887538 C A RPS6KA1 Synonymous SNV V457V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 16.86 38867 chr1 247614763 247614763 C T rs58058243 OR2B11 Synonymous SNV G174G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 2.73 38868 chr1 247614784 247614784 C G rs74154654 OR2B11 Synonymous SNV T167T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 0.258 38869 chr1 47904000 47904000 G A rs78469326 FOXD2 Nonsynonymous SNV A65T 0.077 0.063 0.034 34 90 24 0.087 10 2 0 1 0 Benign 8.354 38870 chr1 63284830 63284830 G A rs17123872 ATG4C Synonymous SNV G183G 0.055 0.036 0.058 15 64 14 0.038 17 3 0 0 0 9.439 38871 chr2 70677994 70677994 G A rs2166975 TGFA Synonymous SNV V159V 0.233 0.219 0.197 69 274 84 0.177 58 34 13 8 4 7.388 38872 chr1 48825355 48825355 G A rs1338314 SPATA6 Nonsynonymous SNV R319W 0.03 0.026 0.014 8 35 10 0.021 4 0 0 0 0 23.9 38873 chr1 48694594 48694594 G A rs61746559 SLC5A9 Nonsynonymous SNV G103R 0.011 0.003 0.007 5 13 1 0.013 2 0 0 0 0 31 38874 chr1 27875651 27875651 G A rs145774336 AHDC1 Synonymous SNV C992C 0.007 0 0.007 4 8 0 0.01 2 0 0 0 0 Benign 0.88 38875 chr1 29447699 29447699 G A rs56040456 TMEM200B Synonymous SNV R214R 0.037 0.016 0.048 19 43 6 0.049 14 3 0 0 1 5.86 38876 chr1 48697226 48697226 T C rs12047252 SLC5A9 Nonsynonymous SNV M207T 0.011 0.003 0.01 5 13 1 0.013 3 0 0 0 0 11.12 38877 chr1 66384480 66384480 G A rs780521988 PDE4B Synonymous SNV T81T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.54 38878 chr1 48697781 48697781 C T rs12161316 SLC5A9 Synonymous SNV F285F 0.011 0.003 0.007 5 13 1 0.013 2 0 0 0 0 17.46 38879 chr1 48713100 48713100 C A rs12040115 SLC5A9 Nonsynonymous SNV A644E 0.011 0.003 0.007 5 13 1 0.013 2 0 0 0 0 12.72 38880 chr1 51121198 51121198 T C rs11205753 FAF1 Synonymous SNV V220V 0.131 0.146 0.133 49 154 56 0.126 39 8 3 2 5 13.59 38881 chr1 67109335 67109335 A G rs7526812 SGIP1 Nonsynonymous SNV K107R 0.152 0.182 0.163 75 179 70 0.192 48 14 5 5 7 22.8 38882 chr1 51913766 51913766 C A rs116386363 EPS15 Synonymous SNV V201V 0.021 0.016 0.01 20 25 6 0.051 3 0 0 0 0 15.31 38883 chr1 43772886 43772886 C T rs35033063 TIE1 Synonymous SNV H193H 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 Benign 11.72 38884 chr1 31406187 31406187 G A rs765720060 PUM1 Synonymous SNV I1146I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.982 38885 chr1 51760147 51760147 T C rs41287288 TTC39A Synonymous SNV K38K 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 9.246 38886 chr1 6524501 6524501 T C rs11800462 TNFRSF25 Nonsynonymous SNV D114G 0.058 0.065 0.065 24 68 25 0.062 19 1 2 2 1 18.31 38887 chr1 52399021 52399021 A G rs2230325 RAB3B Synonymous SNV T147T 0.055 0.047 0.061 19 64 18 0.049 18 1 0 1 1 6.622 38888 chr11 56143503 56143503 T C rs760935158 OR8U1, OR8U8 Nonsynonymous SNV V135A 0.008 0.003 0 7 9 1 0.018 0 0 0 0 0 0.016 38889 chr2 71187104 71187104 G A rs114234874 ATP6V1B1 Nonsynonymous SNV E161K 0.025 0.018 0.037 5 29 7 0.013 11 0 0 0 0 Benign/Likely benign 23.3 38890 chr1 28931901 28931901 T A rs144276665 TAF12 Nonsynonymous SNV T145S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 22.3 38891 chr1 6528468 6528468 C T rs76625876 PLEKHG5 Nonsynonymous SNV G810S 0.062 0.063 0.058 15 73 24 0.038 17 4 2 1 1 Benign/Likely benign 23.6 38892 chr1 52896881 52896881 G A rs6669945 TUT4 Synonymous SNV S1505S 0.009 0.005 0.017 3 10 2 0.008 5 0 0 0 0 7.886 38893 chr1 44422622 44422622 C T rs17402858 IPO13 Synonymous SNV D415D 0.053 0.042 0.027 14 62 16 0.036 8 1 0 0 0 12.01 38894 chr1 52897034 52897034 T C rs61732684 TUT4 Synonymous SNV Q1454Q 0.009 0.005 0.017 3 10 2 0.008 5 0 0 0 0 0.015 38895 chr2 71206384 71206384 T G rs145335113 ANKRD53 Nonsynonymous SNV Y110D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.91 38896 chr1 6529188 6529188 C T rs62639695 PLEKHG5 Synonymous SNV E721E 0.075 0.089 0.075 25 88 34 0.064 22 4 3 2 2 Benign 13.99 38897 chr1 247875583 247875583 G C rs6665599 OR6F1 Nonsynonymous SNV P159A 0.113 0.07 0.078 31 133 27 0.079 23 10 1 0 0 4.992 38898 chr2 71297695 71297695 T C rs2287328 NAGK Synonymous SNV D31D 0.154 0.174 0.204 66 181 67 0.169 60 11 4 7 3 7.011 38899 chr1 68614320 68614320 G A rs17130529 WLS Synonymous SNV I241I 0.063 0.076 0.102 27 74 29 0.069 30 1 2 2 0 12.34 38900 chr1 70504360 70504360 C T rs77157341 LRRC7 Synonymous SNV H952H 0.011 0.013 0.024 8 13 5 0.021 7 0 0 0 0 0.427 38901 chr1 247875975 247875975 A G rs61730470 OR6F1 Nonsynonymous SNV F28S 0.078 0.047 0.054 20 91 18 0.051 16 3 0 0 0 15.75 38902 chr1 6531124 6531124 T C rs61740145 PLEKHG5 Nonsynonymous SNV M440V 0.068 0.063 0.061 16 80 24 0.041 18 5 2 2 1 Likely benign 22.8 38903 chr1 70820008 70820008 C T rs61782675 ANKRD13C Synonymous SNV E28E 0.124 0.154 0.146 38 145 59 0.097 43 14 2 3 3 15.42 38904 chr1 247886493 247886493 G A rs62619787 OR14A2 Nonsynonymous SNV P285S 0.07 0.034 0.054 20 82 13 0.051 16 2 0 0 0 23.1 38905 chr1 6531650 6531650 C T rs112471131 PLEKHG5 Synonymous SNV L393L 0.063 0.063 0.054 15 74 24 0.038 16 5 2 1 1 Likely benign 14.91 38906 chr1 70820880 70820880 G A rs55863806 HHLA3 Synonymous SNV A82A 0.119 0.154 0.146 39 140 59 0.1 43 13 2 3 3 5.631 38907 chr1 247886615 247886615 G A rs11809582 OR14A2 Nonsynonymous SNV T244I 0.081 0.047 0.058 22 95 18 0.056 17 2 1 0 0 0.112 38908 chr11 8662039 8662039 G A rs200180407 TRIM66 Nonsynonymous SNV P483L 0.01 0.01 0.014 6 12 4 0.015 4 0 0 0 0 23.7 38909 chr1 6579521 6579521 G C rs17438786 PLEKHG5 Nonsynonymous SNV S17R 0.033 0.034 0.027 7 39 13 0.018 8 2 0 0 0 5.81 38910 chr1 6614230 6614230 G A rs10864625 NOL9 Synonymous SNV L111L 0.137 0.117 0.071 48 161 45 0.123 21 12 3 2 5 4.66 38911 chr1 32674724 32674724 G A rs139959094 DCDC2B Synonymous SNV R10R 0.009 0 0.02 2 10 0 0.005 6 0 0 0 0 8.52 38912 chr1 46476461 46476461 C T rs779766685 MAST2 Synonymous SNV S346S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.33 38913 chr1 247978339 247978339 G A rs6681046 OR14A16 Synonymous SNV G231G 0.086 0.049 0.054 25 101 19 0.064 16 3 2 1 0 7.734 38914 chr1 247978924 247978924 G A rs56958172 OR14A16 Synonymous SNV A36A 0.086 0.049 0.054 26 101 19 0.067 16 3 2 1 0 3.771 38915 chr1 66829227 66829227 T C rs202021123 PDE4B Synonymous SNV H247H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.005 38916 chr1 32162567 32162567 G A rs367544171 COL16A1 Synonymous SNV S287S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 12.25 38917 chr1 54683856 54683856 C G rs15921 MRPL37 Synonymous SNV G402G 0.19 0.156 0.207 55 223 60 0.141 61 20 8 4 6 10.41 38918 chr2 74315031 74315031 C T rs72818004 TET3 Synonymous SNV N825N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.89 38919 chr1 33333387 33333387 G A rs138727728 FNDC5 Synonymous SNV L156L 0.013 0.008 0 1 15 3 0.003 0 0 0 0 0 11.12 38920 chr1 33333940 33333940 G A rs765656287 FNDC5 Nonsynonymous SNV T87I 0 0 0 0 0 0 0 0 0 0 0 0 27.1 38921 chr1 55050353 55050353 G A rs41294808 ACOT11 Nonsynonymous SNV R20H 0.017 0.018 0.02 11 20 7 0.028 6 0 0 0 0 24.6 38922 chr2 75720664 75720664 G A rs6741778 EVA1A Synonymous SNV L53L 0.241 0.247 0.272 93 283 95 0.238 80 35 15 11 11 3.286 38923 chr2 75745233 75745233 C T rs112344664 EVA1A Nonsynonymous SNV V12M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.925 38924 chr1 75702674 75702674 G A rs17096508 SLC44A5 Synonymous SNV L240L 0.158 0.198 0.177 65 186 76 0.167 52 15 6 6 1 14.06 38925 chr2 79364374 79364374 C G rs11678299 REG1CP 0 0 0.129 0 0 0 0 38 0 0 2 0 4.982 38926 chr2 79364397 79364397 G A rs3819317 REG1CP 0 0 0.129 0 0 0 0 38 0 0 2 0 5.217 38927 chr1 76199277 76199277 A C rs74090726 ACADM Synonymous SNV T81T 0.026 0.013 0.02 5 30 5 0.013 6 0 0 0 0 Benign/Likely benign 1.787 38928 chr2 79385823 79385823 T G rs201139260 REG3A Nonsynonymous SNV H50P 0.101 0.115 0.293 35 118 44 0.09 86 0 0 0 0 12.51 38929 chr1 76397972 76397972 C T rs3795251 ASB17 Nonsynonymous SNV S2N 0.286 0.271 0.259 114 336 104 0.292 76 48 11 11 23 12.93 38930 chr1 68903942 68903942 C T rs12145904 RPE65 Synonymous SNV E352E 0.107 0.089 0.078 59 126 34 0.151 23 10 4 1 7 Benign 12.69 38931 chr2 84896628 84896628 G A rs17708884 DNAH6 Synonymous SNV V2100V 0.143 0.151 0.15 55 168 58 0.141 44 10 4 3 4 5.231 38932 chr1 33960082 33960082 A C rs202052045 ZSCAN20 Nonsynonymous SNV D713A 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.037 38933 chr2 85032869 85032869 T C rs75617902 DNAH6 Synonymous SNV N3854N 0.014 0.013 0.014 4 16 5 0.01 4 1 0 0 0 Benign 5.587 38934 chr2 85360829 85360831 GGC - rs566806913 TCF7L1 G14del 0.112 0.102 0.218 59 132 39 0.151 64 40 15 12 20 38935 chr1 78163080 78163080 C T rs34351666 USP33 Synonymous SNV L886L 0.066 0.039 0.054 22 77 15 0.056 16 2 1 0 1 5.755 38936 chr1 33836164 33836164 G A rs41265897 PHC2 Nonsynonymous SNV A145V 0.034 0.042 0.02 15 40 16 0.038 6 1 2 0 0 24.3 38937 chr1 55224131 55224131 T C rs2270004 PARS2 Nonsynonymous SNV N235S 0.141 0.122 0.156 67 166 47 0.172 46 11 5 1 3 Benign 0.001 38938 chr1 78183670 78183670 G T rs41313399 USP33 Synonymous SNV T600T 0.075 0.044 0.054 24 88 17 0.062 16 2 1 0 1 7.675 38939 chr1 55224751 55224751 C A rs11577368 PARS2 Nonsynonymous SNV R28S 0.141 0.122 0.156 67 166 47 0.172 46 11 5 1 3 Benign 14.83 38940 chr11 10825093 10825093 C T rs35388213 EIF4G2 Synonymous SNV E249E 0.015 0.023 0.024 4 18 9 0.01 7 0 0 0 0 15.82 38941 chr1 78392446 78392446 G A rs1166698 NEXN Nonsynonymous SNV G181R 0.186 0.232 0.156 80 218 89 0.205 46 18 11 3 8 Benign 26.7 38942 chr1 55251314 55251314 G A rs2270002 TTC22 Stop gain R342X 0.04 0.047 0.031 14 47 18 0.036 9 1 0 1 0 0.369 38943 chr2 86258597 86258597 G T rs759398612 POLR1A Synonymous SNV A1478A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.185 38944 chr1 55282725 55282725 C T rs781628316 LEXM Stop gain R372X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 41 38945 chr1 75185057 75185057 C T rs139734636 CRYZ 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 23.9 38946 chr1 57158150 57158150 C T rs17848596 PRKAA2 Synonymous SNV H150H 0.062 0.076 0.041 29 73 29 0.074 12 6 3 0 0 10.7 38947 chr2 86363074 86363074 A G rs3770069 SNORD94 0 0 0.816 0 0 0 0 240 0 0 98 0 6.5 38948 chr1 34189867 34189867 C T rs35450508 CSMD2 Synonymous SNV S977S 0.015 0.013 0.02 5 18 5 0.013 6 0 0 0 0 21 38949 chr1 75704278 75704278 A T SLC44A5 Synonymous SNV T186T 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 0.007 38950 chr1 79095526 79095526 G A rs3820093 IFI44L Nonsynonymous SNV V217I 0.055 0.07 0.075 17 64 27 0.044 22 2 1 2 0 25 38951 chr1 57395231 57395231 T C rs371789315 C8B Nonsynonymous SNV N541S 0.009 0.01 0 6 11 4 0.015 0 0 0 0 0 0.036 38952 chr1 79102726 79102726 C T rs1981071 IFI44L Nonsynonymous SNV R296C 0.043 0.047 0.061 14 51 18 0.036 18 1 1 2 0 12.88 38953 chr2 86707313 86707313 G A rs61748134 KDM3A Synonymous SNV P780P 0.021 0.031 0.044 8 25 12 0.021 13 0 0 0 0 7.818 38954 chr2 86850978 86850978 C T rs3810829 RNF103 Nonsynonymous SNV R3Q 0.027 0.031 0.058 8 32 12 0.021 17 1 0 0 0 8.055 38955 chr2 87016506 87016506 A G rs3020726 CD8A Synonymous SNV L189L 0.137 0.125 0.177 42 161 48 0.108 52 9 4 8 2 Benign 6.489 38956 chr1 3599709 3599709 G A rs146218192 TP73 Nonsynonymous SNV V51I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.15 38957 chr1 5933384 5933384 C G rs41280800 NPHP4 Synonymous SNV G569G 0.037 0.039 0.02 18 44 15 0.046 6 1 0 0 0 Benign 7.231 38958 chr1 57169794 57169794 T C rs41285004 PRKAA2 Synonymous SNV S313S 0.009 0.01 0 5 11 4 0.013 0 0 0 0 0 Benign 5.104 38959 chr2 88472798 88472798 G A rs370944153 THNSL2 Synonymous SNV L43L 0.007 0.003 0.007 6 8 1 0.015 2 0 0 0 0 9.122 38960 chr1 57257817 57257817 T C rs2298130 FYB2 Synonymous SNV K223K 0.109 0.12 0.146 48 128 46 0.123 43 5 3 2 3 0.03 38961 chr1 5937327 5937327 C T rs3747990 NPHP4 Synonymous SNV A369A 0.184 0.154 0.204 59 216 59 0.151 60 18 6 7 6 Benign 13.23 38962 chr1 5965381 5965381 C T rs12120967 NPHP4 Synonymous SNV E130E 0.177 0.151 0.197 56 208 58 0.144 58 16 6 4 5 Benign 11.13 38963 chr1 78585086 78585086 T C rs540742 GIPC2 Nonsynonymous SNV L132P 0.262 0.279 0.214 95 308 107 0.244 63 43 12 2 13 0.022 38964 chr11 14900848 14900848 T C rs782329074 CYP2R1 Nonsynonymous SNV H381R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 4.212 38965 chr1 84791374 84791374 C T rs55638637 SAMD13 Synonymous SNV V50V 0.049 0.016 0.031 17 58 6 0.044 9 2 0 0 0 19.1 38966 chr1 59156090 59156090 C T rs201886018 MYSM1 0.007 0.013 0 4 8 5 0.01 0 0 0 0 0 25.5 38967 chr1 37325598 37325598 C T rs114771561 GRIK3 Synonymous SNV L269L 0.014 0.01 0.037 13 17 4 0.033 11 0 0 0 1 Benign 13.2 38968 chr1 84878228 84878228 C T rs7511984 DNASE2B Synonymous SNV D40D 0.168 0.177 0.173 69 197 68 0.177 51 20 9 2 5 11.64 38969 chr2 96781853 96781853 T C rs9333567 ADRA2B Synonymous SNV T12T 0.058 0.063 0.041 13 68 24 0.033 12 2 2 0 0 0.003 38970 chr1 78958491 78958491 C T rs35227129 PTGFR Synonymous SNV T21T 0.08 0.086 0.095 33 94 33 0.085 28 8 2 1 2 8.863 38971 chr1 36520593 36520593 G C AGO3 Nonsynonymous SNV C540S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.473 38972 chr2 96798305 96798305 C T rs41320144 ASTL Nonsynonymous SNV R204H 0.058 0.068 0.031 13 68 26 0.033 9 2 2 0 0 18.8 38973 chr2 96874415 96874415 C A rs11539221 STARD7-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.942 38974 chr2 96874590 96874590 T C rs6725867 STARD7-AS1 0 0 0.259 0 0 0 0 76 0 0 8 0 5.017 38975 chr2 96874591 96874591 T C rs6725872 STARD7-AS1 0 0 0.259 0 0 0 0 76 0 0 8 0 3.697 38976 chr2 96874626 96874626 C A rs80229301 STARD7-AS1 0 0 0.034 0 0 0 0 10 0 0 0 0 10.19 38977 chr1 6111757 6111757 G A rs11589347 KCNAB2 Nonsynonymous SNV R54H 0.041 0.049 0.034 15 48 19 0.038 10 2 0 0 0 22.8 38978 chr1 36785074 36785074 G A rs981468881 SH3D21 Synonymous SNV S205S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.998 38979 chr1 3686415 3686415 C T rs41315316 CCDC27 Synonymous SNV N604N 0.037 0.049 0.044 7 44 19 0.018 13 3 1 1 0 10.93 38980 chr1 3688030 3688030 C G rs3737592 CCDC27 Synonymous SNV P638P 0.08 0.094 0.095 23 94 36 0.059 28 7 1 1 1 7.324 38981 chr1 85589842 85589842 A G rs17121745 WDR63 Nonsynonymous SNV T635A 0.095 0.102 0.068 35 112 39 0.09 20 7 3 1 1 0.008 38982 chr2 97559759 97559759 G A rs11677797 FAM178B Synonymous SNV L19L 0.207 0.201 0.17 96 243 77 0.246 50 23 7 4 11 12.23 38983 chr1 3691998 3692014 GTCAGCCTAGGGGCTGT - rs566629828 SMIM1 S22Qfs*72 0.011 0.008 0.003 4 13 3 0.01 1 1 0 0 0 38984 chr2 97560801 97560801 G A rs80341479 FAM178B Synonymous SNV L8L 0.062 0.076 0.058 22 73 29 0.056 17 1 1 0 0 3.104 38985 chr1 85594392 85594392 T C rs2305930 WDR63 Synonymous SNV S734S 0.096 0.102 0.068 35 113 39 0.09 20 7 3 1 1 9.341 38986 chr1 3701663 3701663 T C rs2298227 LRRC47 Synonymous SNV P394P 0.107 0.122 0.126 35 126 47 0.09 37 6 2 1 2 1.897 38987 chr1 85598679 85598679 - A rs145165915 WDR63 X853delinsX 0.09 0.099 0.068 35 106 38 0.09 20 7 3 1 1 38988 chr2 98317685 98317685 G A rs11680855 C2orf92 Nonsynonymous SNV A195T 0 0 0.52 0 0 0 0 153 0 0 37 0 3.612 38989 chr2 98340836 98340836 G C ZAP70 Nonsynonymous SNV G113R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 38990 chr2 98354511 98354511 G A rs3192177 ZAP70 Synonymous SNV E252E 0.19 0.161 0.224 73 223 62 0.187 66 17 4 9 5 Benign 11.08 38991 chr1 62672389 62672389 - AACAGA rs150799576 L1TD1 T33_D34insET 0.032 0.034 0.031 8 37 13 0.021 9 0 0 0 0 38992 chr11 17632922 17632922 G A rs562628744 OTOG Synonymous SNV A2037A 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 2.68 38993 chr2 98409046 98409046 G A rs12995673 TMEM131 Nonsynonymous SNV P1316L 0.203 0.18 0.241 76 238 69 0.195 71 23 7 9 6 17.41 38994 chr11 17633764 17633764 G A rs188527711 OTOG Nonsynonymous SNV R2072H 0.014 0.023 0.003 9 17 9 0.023 1 0 0 0 0 Uncertain significance 26.9 38995 chr1 38185169 38185169 G A rs35909785 EPHA10 Synonymous SNV P891P 0.007 0.003 0.01 3 8 1 0.008 3 0 0 0 0 11.63 38996 chr2 98709684 98709684 T C rs298917 VWA3B Synonymous SNV H43H 0.201 0.198 0.197 81 236 76 0.208 58 31 7 7 7 2.014 38997 chr1 248789753 248789753 G C rs28555577 OR2T11 Nonsynonymous SNV P226R 0.077 0.086 0.054 19 90 33 0.049 16 6 4 0 2 0.001 38998 chr1 86488232 86488232 G A rs641712 COL24A1 Nonsynonymous SNV P31S 0.377 0.354 0.347 144 443 136 0.369 102 79 28 20 25 23.9 38999 chr1 248790167 248790167 A G rs34397542 OR2T11 Nonsynonymous SNV I88T 0.078 0.086 0.054 21 92 33 0.054 16 6 4 0 2 2.026 39000 chr1 248790199 248790199 T C rs34674180 OR2T11 Synonymous SNV K77K 0.078 0.086 0.054 21 92 33 0.054 16 6 4 0 2 0.005 39001 chr1 62916013 62916013 C T rs780706884 USP1 Synonymous SNV N573N 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 9.162 39002 chr1 86891073 86891073 G A rs11580625 CLCA2 Nonsynonymous SNV V80I 0.066 0.068 0.037 33 77 26 0.085 11 1 0 3 2 15.15 39003 chr2 9983686 9983686 G T rs2303914 TAF1B Nonsynonymous SNV A6S 0.361 0.396 0.374 142 424 152 0.364 110 102 42 26 29 15.22 39004 chr2 99995804 99995804 T C rs1376443 EIF5B Synonymous SNV D658D 0.529 0.539 0.493 224 621 207 0.574 145 164 58 33 63 0.827 39005 chr3 100018106 100018106 G A rs146856935 TBC1D23 Synonymous SNV V341V 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.29 39006 chr1 85655916 85655916 G A rs56191061 SYDE2 Nonsynonymous SNV S422L 0.092 0.089 0.065 25 108 34 0.064 19 8 1 1 0 0.001 39007 chr1 63902524 63902524 C G rs41285372 ALG6 Nonsynonymous SNV L453V 0.009 0.008 0.003 11 11 3 0.028 1 0 0 0 1 Benign/Likely benign 23.6 39008 chr1 85724283 85724283 C T rs75989026 C1orf52 Synonymous SNV E133E 0.066 0.057 0.054 23 78 22 0.059 16 5 0 1 0 13.33 39009 chr1 85742023 85742023 C A rs12037217 BCL10 Nonsynonymous SNV A5S 0.065 0.057 0.024 23 76 22 0.059 7 5 0 1 0 Benign 22.4 39010 chr1 39339386 39339386 C G rs75612081 GJA9-MYCBP 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.32 39011 chr1 55505651 55505651 C T rs28385701 PCSK9 Synonymous SNV S47S 0.033 0.029 0.01 13 39 11 0.033 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 39012 chr1 6310562 6310562 C G rs142015102 GPR153 Nonsynonymous SNV G368R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 23.4 39013 chr1 86590582 86590582 A G rs80262773 COL24A1 Synonymous SNV N479N 0.036 0.026 0.031 21 42 10 0.054 9 0 0 0 0 0.502 39014 chr3 100712249 100712249 T C rs3732895 ABI3BP Star tloss M1? 0.18 0.159 0.197 74 211 61 0.19 58 28 7 6 10 15.88 39015 chr1 86591036 86591036 G T rs56046090 COL24A1 Nonsynonymous SNV T328K 0.037 0.026 0.034 22 43 10 0.056 10 0 0 0 0 4.928 39016 chr1 65690461 65690461 G A rs4915685 AK4 Synonymous SNV P103P 0.159 0.188 0.15 69 187 72 0.177 44 14 9 4 5 12.51 39017 chr1 39893638 39893638 G A rs41307884 MACF1 Synonymous SNV L3432L 0.018 0.008 0.003 3 21 3 0.008 1 0 0 0 0 Likely benign 7.337 39018 chr3 101066717 101066717 T A rs2433031 SENP7 Nonsynonymous SNV Q448H 0.302 0.354 0.354 116 355 136 0.297 104 68 27 23 17 13.92 39019 chr1 25893367 25893367 G A rs367832795 LDLRAP1 Nonsynonymous SNV V271I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.9 39020 chr1 40148295 40148295 G A rs113385960 HPCAL4 Synonymous SNV D91D 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 9.1 39021 chr3 101477203 101477203 C T rs145086802 CEP97 Nonsynonymous SNV R526C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 39022 chr3 10255002 10255002 C G rs35060588 IRAK2 Nonsynonymous SNV R214G 0.076 0.081 0.088 34 89 31 0.087 26 6 1 3 1 10.22 39023 chr1 889238 889238 G A rs3828049 NOC2L Nonsynonymous SNV A271V 0.072 0.073 0.058 29 84 28 0.074 17 3 2 1 1 22.1 39024 chr1 57258382 57258382 G T rs61736121 FYB2 Nonsynonymous SNV S35Y 0.03 0.023 0.024 6 35 9 0.015 7 2 0 0 0 22.9 39025 chr1 6659505 6659505 G A rs2232460 KLHL21 Synonymous SNV S343S 0.377 0.414 0.32 170 443 159 0.436 94 71 37 12 33 15.47 39026 chr3 10276260 10276260 G C rs774450258 IRAK2 Nonsynonymous SNV G464R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 39027 chr1 6693097 6693097 A G rs3174820 THAP3 Nonsynonymous SNV Q226R 0.386 0.411 0.35 173 453 158 0.444 103 81 36 14 32 0.001 39028 chr1 64672478 64672478 A G rs35112334 UBE2U Synonymous SNV T60T 0.032 0.026 0.034 16 38 10 0.041 10 2 0 1 0 0.358 39029 chr1 86961210 86961210 C T rs5744408 CLCA1 Synonymous SNV D655D 0.06 0.057 0.034 15 70 22 0.038 10 2 1 0 0 16.81 39030 chr1 57411632 57411632 G A rs141295453 C8B Nonsynonymous SNV R323W 0.019 0.016 0 3 22 6 0.008 0 1 0 0 0 Uncertain significance 24.2 39031 chr1 87045902 87045902 - CCTACT rs368263974 CLCA4 P887_D888insTP 0.038 0.039 0.02 11 45 15 0.028 6 1 1 0 0 39032 chr1 65311262 65311262 G A rs2230587 JAK1 Synonymous SNV S683S 0.068 0.073 0.092 26 80 28 0.067 27 2 0 0 0 9.263 39033 chr3 105260520 105260520 C T rs1044243 ALCAM Nonsynonymous SNV T301M 0.08 0.078 0.075 42 94 30 0.108 22 2 1 0 3 23.9 39034 chr11 57798723 57798723 A G rs921135 OR6Q1 Nonsynonymous SNV D100G 0.211 0.195 0.255 93 248 75 0.238 75 25 7 8 14 7.04 39035 chr3 105266331 105266331 A G rs9855810 ALCAM Synonymous SNV Q446Q 0.064 0.073 0.075 40 75 28 0.103 22 2 1 0 3 0.097 39036 chr11 57798942 57798942 A G rs2513726 OR6Q1 Nonsynonymous SNV Y173C 0.211 0.195 0.255 93 248 75 0.238 75 25 7 8 14 9.084 39037 chr3 107647001 107647001 - A rs34976355 LINC00636 0 0 0.116 0 0 0 0 34 0 0 8 0 39038 chr3 107937408 107937408 C T rs1135897 IFT57 Synonymous SNV L156L 0.125 0.135 0.109 52 147 52 0.133 32 7 2 1 3 12 39039 chr1 6614526 6614526 A G rs12742808 NOL9 Nonsynonymous SNV C13R 0.014 0.013 0.01 5 16 5 0.013 3 0 0 0 0 0.431 39040 chr1 89478868 89478868 G A rs113490655 GBP3 Nonsynonymous SNV R156C 0.131 0.135 0.119 46 154 52 0.118 35 5 2 5 3 23.2 39041 chr3 108081217 108081217 C A rs3792332 HHLA2 Nonsynonymous SNV N344K 0.041 0.031 0.048 12 48 12 0.031 14 2 0 0 0 14.27 39042 chr1 6698390 6698390 C T rs41278034 DNAJC11 Nonsynonymous SNV D430N 0.009 0.013 0.007 4 11 5 0.01 2 0 0 0 0 17.63 39043 chr1 41327435 41327470 GGGGCTGCGGCGCTTGGCGCCGGCTGCGGGCCCGGG - rs554263409 CITED4 G112_P123del 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 39044 chr1 41454328 41454328 A G rs5030799 CTPS1 Synonymous SNV Q11Q 0.037 0.049 0.051 19 43 19 0.049 15 1 2 1 1 Benign 8.997 39045 chr1 70819912 70819912 C T rs112475035 ANKRD13C Synonymous SNV R60R 0.031 0.029 0.037 13 36 11 0.033 11 0 0 0 0 13.56 39046 chr3 108303958 108303958 T G rs79888562 CIP2A Synonymous SNV I68I 0.028 0.042 0.031 3 33 16 0.008 9 1 0 0 0 12.79 39047 chr11 20629164 20629164 G A rs1443551 SLC6A5 Synonymous SNV T83T 0.048 0.073 0.048 18 56 28 0.046 14 0 1 0 0 Benign 12.11 39048 chr1 26671047 26671047 T C rs199647245 CRYBG2 Nonsynonymous SNV D701G 0.003 0.003 0.014 4 4 1 0.01 4 0 0 0 0 4.239 39049 chr1 89599013 89599013 G T rs115671591 GBP7 Synonymous SNV L530L 0.039 0.047 0.031 22 46 18 0.056 9 0 2 1 0 0.014 39050 chr1 89613280 89613280 G A rs115454072 GBP7 Synonymous SNV D445D 0.039 0.044 0.041 21 46 17 0.054 12 0 2 1 0 0.057 39051 chr3 108572595 108572595 T C rs61756222 TRAT1 Synonymous SNV D107D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.02 39052 chr1 897738 897738 C T rs6696971 KLHL17 Synonymous SNV L239L 0.077 0.076 0.068 33 90 29 0.085 20 4 2 1 1 9.662 39053 chr11 21392487 21392487 C T rs4151056 NELL1 Synonymous SNV C489C 0.079 0.081 0.068 33 93 31 0.085 20 5 1 0 3 15.26 39054 chr1 67518534 67518534 C T rs10157422 SLC35D1 Nonsynonymous SNV A82T 0.07 0.036 0.092 31 82 14 0.079 27 5 1 2 1 27.6 39055 chr11 59211379 59211379 G A rs147466806 OR5A1 Synonymous SNV S246S 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 0.285 39056 chr1 43777350 43777350 G A rs56302794 TIE1 Nonsynonymous SNV V403M 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 21.2 39057 chr3 109052732 109052732 T C rs3762648 DPPA4 Nonsynonymous SNV I3V 0.442 0.466 0.439 148 519 179 0.379 129 103 45 32 23 0.001 39058 chr3 109178758 109178758 C T rs769533 LINC01205 0 0 0.99 0 0 0 0 291 0 0 145 0 7.693 39059 chr1 62582847 62582847 C G rs41289430 PATJ Nonsynonymous SNV A1616G 0.024 0.013 0.017 9 28 5 0.023 5 0 1 0 0 28.8 39060 chr1 89655787 89655787 T C rs41305862 GBP4 Synonymous SNV E377E 0.038 0.044 0.041 19 45 17 0.049 12 0 1 1 0 0.071 39061 chr1 89732237 89732237 G A rs61729628 GBP5 Synonymous SNV P220P 0.135 0.138 0.17 51 158 53 0.131 50 11 2 6 5 1.893 39062 chr1 43905286 43905286 C T rs72671125 SZT2 Synonymous SNV C2239C 0.016 0.016 0.031 9 19 6 0.023 9 0 0 0 0 Benign 11.45 39063 chr1 68152171 68152171 G A rs149179509 GADD45A Synonymous SNV P61P 0.018 0.026 0.02 8 21 10 0.021 6 0 0 0 1 Benign 9.581 39064 chr1 89846152 89846152 C T rs4582772 GBP6 Nonsynonymous SNV T148I 0.147 0.156 0.143 45 172 60 0.115 42 10 5 1 7 2.335 39065 chr11 59807978 59807978 G A rs79964989 OOSP2 Nonsynonymous SNV G16S 0.058 0.042 0.051 15 68 16 0.038 15 0 0 0 0 7.463 39066 chr1 68564488 68564488 T C rs373666278 GNG12-AS1 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.12 39067 chr1 70505191 70505191 G A rs76929550 LRRC7 Synonymous SNV P1229P 0.01 0.005 0.014 0 12 2 0 4 0 0 0 0 0.007 39068 chr1 7723588 7723588 C T rs3737906 CAMTA1 Synonymous SNV N297N 0.07 0.081 0.048 17 82 31 0.044 14 3 2 0 1 Benign 8.815 39069 chr1 27721073 27721073 C T rs2230880 GPR3 Synonymous SNV A257A 0.015 0.023 0.017 7 18 9 0.018 5 0 0 0 0 12.32 39070 chr1 6272065 6272065 G C rs200190488 RNF207 Nonsynonymous SNV E416D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.126 39071 chr1 74648329 74648329 G A rs17591320 LRRIQ3 Nonsynonymous SNV H156Y 0.047 0.049 0.044 12 55 19 0.031 13 0 0 1 0 0.187 39072 chr1 44063549 44063549 G A rs376955084 PTPRF Synonymous SNV A648A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.833 39073 chr1 27878147 27878147 G A rs147707628 AHDC1 Synonymous SNV P160P 0.009 0.018 0.003 0 10 7 0 1 0 0 0 0 Likely benign 9.192 39074 chr1 91782011 91782011 G A rs74843031 HFM1 Synonymous SNV I945I 0.061 0.052 0.058 27 72 20 0.069 17 2 1 0 0 15.92 39075 chr11 27390144 27390144 G A rs34717439 LGR4 Nonsynonymous SNV T685M 0.051 0.042 0.068 18 60 16 0.046 20 2 1 1 0 23.4 39076 chr1 28271804 28271804 C T rs141404787 SMPDL3B Synonymous SNV P41P 0.034 0.026 0.02 7 40 10 0.018 6 0 0 0 0 10.5 39077 chr1 62732421 62732421 T C rs11207949 KANK4 Nonsynonymous SNV T140A 0.158 0.188 0.17 67 186 72 0.172 50 9 10 2 6 9.253 39078 chr1 92327045 92327045 G A rs1805110 TGFBR3 Nonsynonymous SNV S15F 0.074 0.052 0.105 31 87 20 0.079 31 3 0 4 0 10.24 39079 chr11 31811461 31811462 TT - rs759391101 PAX6 K244Gfs*7 0.099 0.083 0.092 29 116 32 0.074 27 4 0 1 0 39080 chr1 28586376 28586376 C G rs34315986 SESN2 Synonymous SNV S6S 0.055 0.065 0.037 17 64 25 0.044 11 4 0 1 0 15.18 39081 chr3 112991312 112991312 C T rs3814398 BOC Synonymous SNV I241I 0.112 0.089 0.146 48 132 34 0.123 43 5 1 2 0 18.14 39082 chr3 112991959 112991959 C T rs11710894 BOC Synonymous SNV P335P 0.152 0.112 0.18 63 179 43 0.162 53 8 1 4 2 12.11 39083 chr1 906272 906272 A C rs28507236 PLEKHN1 Synonymous SNV A166A 0.075 0.047 0.078 16 88 18 0.041 23 2 0 2 0 0.057 39084 chr3 112993367 112993367 G A rs13094203 BOC Synonymous SNV P460P 0.183 0.174 0.204 54 215 67 0.138 60 20 4 4 2 6.801 39085 chr1 44878228 44878228 G A rs771221351 RNF220 Synonymous SNV L153L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 1.457 39086 chr1 45250007 45250007 C G rs59895800 BEST4 Nonsynonymous SNV V433L 0.135 0.125 0.116 57 158 48 0.146 34 15 7 5 4 16.46 39087 chr1 909326 909326 C T rs61573829 PLEKHN1 Synonymous SNV G481G 0.014 0.01 0.003 1 17 4 0.003 1 0 0 0 0 8.722 39088 chr3 112998268 112998268 G A rs2650100 BOC Synonymous SNV S663S 0.187 0.172 0.201 56 220 66 0.144 59 22 4 4 2 11.68 39089 chr1 909381 909381 C T rs200988214 PLEKHN1 Nonsynonymous SNV R500W 0.005 0.005 0 0 6 2 0 0 0 0 0 0 28.6 39090 chr1 44451234 44451234 C T rs1061781 B4GALT2 Synonymous SNV I303I 0.095 0.104 0.092 46 111 40 0.118 27 5 1 1 3 18.51 39091 chr1 92647861 92647861 G A rs566576 KIAA1107 Nonsynonymous SNV V1028I 0.033 0.031 0.031 9 39 12 0.023 9 0 0 0 0 2.164 39092 chr1 76344705 76344705 T C rs5745448 MSH4 Synonymous SNV Y523Y 0.268 0.271 0.231 114 315 104 0.292 68 42 11 10 19 0.353 39093 chr1 93073228 93073228 C A rs11808092 EVI5 Nonsynonymous SNV Q612H 0.264 0.247 0.241 101 310 95 0.259 71 41 15 10 12 Benign 22.8 39094 chr1 76363707 76363707 A C rs201866178 MSH4 Nonsynonymous SNV K824T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.64 39095 chr3 113175984 113175984 G A rs146846950 SPICE1 Synonymous SNV D552D 0.002 0.005 0.007 4 2 2 0.01 2 0 0 0 0 0.149 39096 chr1 45292926 45292926 C G rs111471526 PTCH2 Synonymous SNV S809S 0.014 0.016 0.017 13 16 6 0.033 5 0 0 0 0 Benign 13.01 39097 chr1 46089315 46089315 G A rs56364098 CCDC17 Stop gain Q62X 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 34 39098 chr1 77685042 77685042 T C rs12723684 PIGK Nonsynonymous SNV T16A 0.095 0.06 0.085 30 112 23 0.077 25 2 0 1 2 1.535 39099 chr1 31791979 31791979 G A rs148438693 ZCCHC17 Nonsynonymous SNV G2E 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 10.56 39100 chr1 934801 934801 C T rs200512735 HES4 Nonsynonymous SNV A128T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.833 39101 chr1 7838204 7838204 G A rs780192464 VAMP3 Synonymous SNV L86L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.2 39102 chr3 118381320 118381320 C A rs28380350 LOC105374060 0 0 0.408 0 0 0 0 120 0 0 26 0 2.591 39103 chr1 94342061 94342061 C T rs41292661 DNTTIP2 Nonsynonymous SNV G477E 0.043 0.029 0.031 16 51 11 0.041 9 2 0 0 0 0.012 39104 chr1 65311214 65311214 G C rs3737139 JAK1 Synonymous SNV A699A 0.046 0.039 0.061 13 54 15 0.033 18 0 1 0 0 10.27 39105 chr3 118647432 118647432 G C rs201218453 IGSF11 Synonymous SNV G116G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.416 39106 chr1 65321250 65321250 G A rs2230586 JAK1 Synonymous SNV I530I 0.046 0.039 0.061 13 54 15 0.033 18 0 1 0 0 13.12 39107 chr1 46159446 46159446 C T rs777574511 TMEM69 Nonsynonymous SNV P205S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 39108 chr1 9324213 9324213 C T rs17368528 H6PD Nonsynonymous SNV P565L 0.128 0.135 0.146 73 150 52 0.187 43 7 2 4 11 20.4 39109 chr1 94473845 94473845 T C rs2275029 ABCA4 Synonymous SNV P1948P 0.195 0.167 0.218 62 229 64 0.159 64 20 4 2 6 Benign/Likely benign 8.138 39110 chr1 46685792 46685792 A G rs62620990 LURAP1 Nonsynonymous SNV Q207R 0.049 0.07 0.027 11 57 27 0.028 8 2 0 0 0 Benign 0.37 39111 chr1 65335095 65335095 T C rs11585932 JAK1 Synonymous SNV G182G 0.046 0.039 0.061 13 54 15 0.033 18 0 1 0 0 1.786 39112 chr1 94474328 94474328 T C rs4147857 ABCA4 Synonymous SNV L1938L 0.199 0.169 0.218 68 234 65 0.174 64 20 4 2 7 Benign/Likely benign 0.232 39113 chr1 94476388 94476388 C G rs1801574 ABCA4 Synonymous SNV L1894L 0.247 0.219 0.279 87 290 84 0.223 82 31 9 9 12 Benign/Likely benign 11.83 39114 chr1 9324884 9324884 G A rs772793248 H6PD Nonsynonymous SNV G789S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26 39115 chr1 94564483 94564483 C T rs6657239 ABCA4 Nonsynonymous SNV R212H 0.044 0.06 0.037 13 52 23 0.033 11 2 2 0 0 Benign/Likely benign 24.9 39116 chr1 934771 934771 C G rs199599342 HES4 Nonsynonymous SNV A138P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 39117 chr11 61197267 61197267 G C rs184356950 CPSF7 Synonymous SNV R12R 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 13.64 39118 chr11 61252200 61252200 A G rs146231065 PPP1R32 Nonsynonymous SNV Q141R 0.012 0.005 0.01 5 14 2 0.013 3 0 0 0 0 Benign 11.29 39119 chr1 93672688 93672688 C T rs2783499 CCDC18 Synonymous SNV N314N 0.163 0.164 0.143 58 191 63 0.149 42 18 6 5 4 12.59 39120 chr11 61253841 61253841 C A rs11230707 PPP1R32 Nonsynonymous SNV T238N 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 24.6 39121 chr11 61254455 61254455 T C rs77676987 PPP1R32 Synonymous SNV S270S 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 0.25 39122 chr1 93720070 93720070 C G rs12030843 CCDC18 Nonsynonymous SNV L1080V 0.175 0.156 0.058 58 205 60 0.149 17 18 6 4 4 23.3 39123 chr1 6680159 6680159 C T rs758347188 PHF13 Synonymous SNV D146D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.876 39124 chr1 93720153 93720153 G T rs61729705 CCDC18 Nonsynonymous SNV R1107S 0.009 0 0 0 10 0 0 0 0 0 0 0 11.4 39125 chr1 94048153 94048153 T C rs12062278 BCAR3 Nonsynonymous SNV E140G 0.009 0 0.003 0 10 0 0 1 0 0 0 0 1.953 39126 chr11 61669946 61669946 G A rs3815045 RAB3IL1 Nonsynonymous SNV H297Y 0.019 0.008 0.044 7 22 3 0.018 13 0 0 1 0 7.689 39127 chr1 94049576 94049576 A G rs78645541 BCAR3 Synonymous SNV I20I 0.007 0 0 0 8 0 0 0 0 0 0 0 10.75 39128 chr1 94057966 94057966 A G rs236327 BCAR3-AS1 0.009 0 0 0 10 0 0 0 0 0 0 0 2.56 39129 chr3 119905619 119905619 G A rs74395262 GPR156 Synonymous SNV D162D 0.027 0.016 0.037 16 32 6 0.041 11 0 0 0 0 11.53 39130 chr3 120054795 120054795 T C rs140152656 LRRC58 Nonsynonymous SNV E169G 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 28.6 39131 chr1 85648581 85648581 T C SYDE2 Nonsynonymous SNV T582A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.142 39132 chr1 34024952 34024952 C T rs773867111 CSMD2 Synonymous SNV R2834R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.764 39133 chr3 120068022 120068022 C G rs6770482 LRRC58 Synonymous SNV V23V 0.082 0.102 0.126 42 96 39 0.108 37 7 2 4 4 12.47 39134 chr1 86965419 86965419 T C rs1882753 CLCA1 Synonymous SNV T812T 0.239 0.26 0.224 108 281 100 0.277 66 35 12 4 16 7.059 39135 chr20 10030188 10030188 T A rs652633 ANKEF1 Nonsynonymous SNV L324Q 0.365 0.336 0.34 160 428 129 0.41 100 66 21 14 32 7.475 39136 chr1 87045696 87045696 G C rs2231604 CLCA4 Nonsynonymous SNV V810L 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 14.77 39137 chr1 34068136 34068136 G A rs143860895 CSMD2 Synonymous SNV G2181G 0.005 0.016 0.02 4 6 6 0.01 6 0 0 1 0 10.78 39138 chr20 10030452 10030452 G A rs524625 ANKEF1 Nonsynonymous SNV G412E 0.361 0.326 0.33 159 424 125 0.408 97 65 21 13 32 18.19 39139 chr1 95294089 95294089 T C rs2640065 SLC44A3 Synonymous SNV Y116Y 0.187 0.177 0.177 49 219 68 0.126 52 16 3 4 5 0.002 39140 chr3 121207637 121207637 G T rs3218642 POLQ Nonsynonymous SNV P1381T 0.029 0.034 0.034 8 34 13 0.021 10 0 0 0 0 0.002 39141 chr1 87045903 87045908 CCTACT - rs56040873 CLCA4 T886_P887del 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 39142 chr20 10032413 10032413 T G rs683145 ANKEF1 Synonymous SNV A582A 0.365 0.336 0.34 160 428 129 0.41 100 66 21 14 32 6.112 39143 chr1 87633929 87633929 A G rs17129860 LINC01140 0.047 0.049 0.078 29 55 19 0.074 23 2 0 0 0 9.059 39144 chr1 95367773 95367773 A G rs2228344 CNN3 Synonymous SNV Y55Y 0.043 0.057 0.078 19 50 22 0.049 23 1 0 0 1 3.452 39145 chr20 10625804 10625804 T G rs1801140 JAG1 Synonymous SNV T738T 0.089 0.094 0.095 42 105 36 0.108 28 3 2 2 3 Benign 2.635 39146 chr20 10632861 10632861 G A rs45575136 JAG1 Synonymous SNV N308N 0.014 0.016 0.024 7 16 6 0.018 7 0 0 0 0 Benign 12.3 39147 chr1 878331 878331 C T rs148327885 SAMD11 Nonsynonymous SNV P486L 0.022 0.008 0.007 6 26 3 0.015 2 1 0 0 0 13.8 39148 chr1 48267214 48267214 C T rs918051247 TRABD2B Synonymous SNV T248T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 18.01 39149 chr20 10637057 10637057 T C rs10485741 JAG1 Synonymous SNV P248P 0.046 0.052 0.044 23 54 20 0.059 13 0 0 0 0 Benign/Likely benign 8.151 39150 chr20 10653469 10653469 C T rs1051415 JAG1 Synonymous SNV G89G 0.065 0.083 0.048 20 76 32 0.051 14 3 0 0 0 Benign/Likely benign 13.13 39151 chr20 1115919 1115919 A G rs2235587 PSMF1 Nonsynonymous SNV H86R 0.135 0.112 0.167 62 158 43 0.159 49 9 4 1 4 0.003 39152 chr1 9776575 9776575 A G rs2230735 PIK3CD Synonymous SNV T226T 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 Benign 1.624 39153 chr20 1285933 1285933 G A rs3795139 SNPH Synonymous SNV G240G 0.367 0.339 0.296 137 431 130 0.351 87 79 19 13 26 0.191 39154 chr3 121361787 121361787 G A rs2070178 HCLS1 Synonymous SNV H147H 0.221 0.266 0.19 84 259 102 0.215 56 30 12 4 9 8.486 39155 chr1 97770920 97770920 C T rs1801160 DPYD Nonsynonymous SNV V732I 0.08 0.073 0.088 26 94 28 0.067 26 2 1 1 0 Benign/Likely benign 25.9 39156 chr3 121412892 121412892 A G rs11915822 GOLGB1 Synonymous SNV L2080L 0.082 0.086 0.078 27 96 33 0.069 23 1 1 0 0 0.273 39157 chr1 86909555 86909555 T C rs141677634 CLCA2 Nonsynonymous SNV M525T 0.016 0.023 0.007 8 19 9 0.021 2 0 0 0 0 0.03 39158 chr1 9784423 9784423 C T rs11121484 PIK3CD Synonymous SNV Y907Y 0.078 0.096 0.078 22 92 37 0.056 23 5 2 0 3 Benign 13.79 39159 chr20 1292989 1292989 C T rs4814111 SDCBP2 Nonsynonymous SNV G157R 0.05 0.057 0.031 13 59 22 0.033 9 2 1 0 0 35 39160 chr11 46456444 46456444 G A rs61999319 AMBRA1 Synonymous SNV L866L 0.015 0.008 0.02 4 18 3 0.01 6 0 0 0 0 10.59 39161 chr1 50884706 50884706 C T rs3862270 DMRTA2 Synonymous SNV L420L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.94 39162 chr1 70460304 70460304 A G rs72676879 LRRC7 Nonsynonymous SNV N332S 0.024 0.021 0.027 7 28 8 0.018 8 0 0 0 0 23.6 39163 chr3 121414217 121414217 C A rs35674179 GOLGB1 Nonsynonymous SNV C1638F 0.082 0.086 0.078 27 96 33 0.069 23 1 1 0 0 10.68 39164 chr1 50884884 50884884 C G rs200202023 DMRTA2 Nonsynonymous SNV G361A 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 39165 chr11 46751059 46751059 G A rs5900 F2 Synonymous SNV P534P 0.015 0.008 0.017 4 18 3 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 39166 chr1 9811541 9811541 A G rs11674 CLSTN1 Synonymous SNV V203V 0.067 0.089 0.078 17 79 34 0.044 23 4 1 0 0 1.286 39167 chr1 35370734 35370734 C A rs777868236 DLGAP3 Nonsynonymous SNV G84V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 13.58 39168 chr3 121712805 121712805 G C rs3915061 ILDR1 Nonsynonymous SNV P175R 0.313 0.284 0.316 113 367 109 0.29 93 63 17 11 15 Benign 0.663 39169 chr1 874779 874826 CCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA - rs568340123 SAMD11 G220_H235del 0.056 0.073 0.061 31 66 28 0.079 18 6 2 1 1 39170 chr1 52991914 52991914 T C rs143018211 TUT4 Synonymous SNV E13E 0.003 0 0 0 4 0 0 0 0 0 0 0 0.11 39171 chr1 99164434 99164434 G A rs6577322 SNX7 Synonymous SNV E282E 0.27 0.266 0.262 108 317 102 0.277 77 47 16 10 15 12.15 39172 chr1 36181521 36181521 C T rs752427031 C1orf216 Synonymous SNV P134P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.703 39173 chr20 10036202 10036202 G A rs6087119 ANKEF1 Nonsynonymous SNV R742Q 0.132 0.109 0.109 31 155 42 0.079 32 10 2 0 2 23 39174 chr1 51767352 51767352 G A rs41287290 TTC39A Synonymous SNV F316F 0.169 0.151 0.112 65 198 58 0.167 33 20 6 1 4 10.49 39175 chr20 1538266 1538266 G A rs11697395 SIRPD Synonymous SNV L12L 0.24 0.164 0.259 96 282 63 0.246 76 39 3 12 16 4.178 39176 chr20 1546805 1546805 G A rs62623705 SIRPB1 Nonsynonymous SNV A181V 0.14 0.076 0.139 49 164 29 0.126 41 14 0 1 3 17.08 39177 chr20 10633237 10633237 G A rs1131695 JAG1 Synonymous SNV Y255Y 0.53 0.557 0.548 202 622 214 0.518 161 172 65 45 55 Benign 8.479 39178 chr11 47371598 47371598 C T rs3729986 MYBPC3 Nonsynonymous SNV V158M 0.058 0.052 0.082 28 68 20 0.072 24 1 0 0 1 Benign 24.5 39179 chr1 52499071 52499097 GCCCGCCACCTGAGGTCCCGCGATCGG - rs377187997 KTI12 P113_G121del 0.055 0.044 0.061 24 65 17 0.062 18 1 0 2 1 39180 chr1 52703491 52703491 G C rs35385323 ZFYVE9 Nonsynonymous SNV K134N 0.055 0.044 0.068 25 65 17 0.064 20 0 0 2 1 22.3 39181 chr3 122354792 122354792 G A rs12489170 PARP15 Nonsynonymous SNV G325R 0.18 0.143 0.177 68 211 55 0.174 52 18 4 5 7 25.6 39182 chr1 52828384 52828384 A G rs11555349 CC2D1B Nonsynonymous SNV M35T 0.055 0.044 0.068 25 64 17 0.064 20 0 0 2 1 23.3 39183 chr11 47521014 47521014 G A CELF1 Nonsynonymous SNV S21F 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 26.6 39184 chr20 1552457 1552457 G A rs16995332 SIRPB1 Synonymous SNV D220D 0.142 0.083 0.143 53 167 32 0.136 42 13 0 1 3 6.912 39185 chr1 53569237 53569237 G A rs116623976 SLC1A7 Nonsynonymous SNV R88C 0.01 0.005 0.02 3 12 2 0.008 6 0 0 0 0 35 39186 chr11 47587452 47587452 C T rs11537751 PTPMT1 Nonsynonymous SNV S93L 0.05 0.052 0.065 33 59 20 0.085 19 3 0 0 1 19.16 39187 chr3 122478187 122478187 G A rs74824564 HSPBAP1 Synonymous SNV F151F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 39188 chr1 78444635 78444635 A G rs61729829 FUBP1 Synonymous SNV G18G 0.018 0.01 0.014 4 21 4 0.01 4 1 0 0 0 Benign 12.72 39189 chr11 63064887 63064887 G T rs117447942 SLC22A10 Nonsynonymous SNV G207C 0.074 0.086 0.058 31 87 33 0.079 17 3 1 2 1 23.7 39190 chr20 13071816 13071816 C T rs6109692 SPTLC3 Synonymous SNV F231F 0.129 0.125 0.099 55 151 48 0.141 29 10 1 2 4 17.52 39191 chr20 1600524 1600524 T C rs1535882 SIRPB1 Nonsynonymous SNV R23G 0.323 0.245 0.293 126 379 94 0.323 86 58 13 13 19 0.091 39192 chr20 13134768 13134768 T C rs6078938 SPTLC3 Synonymous SNV Y466Y 0.073 0.052 0.105 39 86 20 0.1 31 2 0 1 3 0.014 39193 chr20 1358272 1358272 C T rs6041827 SDCBP2-AS1 0.117 0.096 0 43 137 37 0.11 0 9 3 0 1 5.527 39194 chr20 13695680 13695680 C T rs6110019 ESF1 Synonymous SNV R799R 0.458 0.424 0.469 192 538 163 0.492 138 124 35 32 46 10.29 39195 chr20 16360517 16360517 T C rs140804455 KIF16B Synonymous SNV Q710Q 0.019 0.008 0 9 22 3 0.023 0 0 0 0 0 0.001 39196 chr20 16729138 16729138 T C rs6135876 OTOR Nonsynonymous SNV L31P 0.132 0.185 0.17 55 155 71 0.141 50 9 5 2 5 27.5 39197 chr1 8395635 8395635 G A rs367968730 SLC45A1 Nonsynonymous SNV V528I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.29 39198 chr20 14306896 14306896 G A rs6042672 FLRT3 Synonymous SNV T419T 0.312 0.294 0.316 142 366 113 0.364 93 59 18 13 24 0.174 39199 chr1 53930360 53930360 G A rs61738842 DMRTB1 Synonymous SNV P267P 0.071 0.057 0.061 34 83 22 0.087 18 2 3 0 0 3.515 39200 chr1 55014013 55014013 C T rs34630746 ACOT11 Nonsynonymous SNV R11W 0.051 0.036 0.037 14 60 14 0.036 11 3 1 0 0 26.9 39201 chr20 1538249 1538249 C T rs2250055 SIRPD Synonymous SNV L17L 0.219 0.214 0.18 80 257 82 0.205 53 29 10 5 10 6.411 39202 chr3 124451312 124451312 T G rs10934682 MIR544B 0 0 0.146 0 0 0 0 43 0 0 3 0 3.891 39203 chr3 124456742 124456742 G C rs1801019 UMPS Nonsynonymous SNV G213A 0.129 0.13 0.146 56 152 50 0.144 43 8 1 3 4 drug response 0.006 39204 chr1 38512309 38512317 GCCGCCGCC - rs988281071 POU3F1 A35_A37del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 39205 chr1 38512315 38512317 GCC - POU3F1 A37del 0 0.003 0 0 0 1 0 0 0 0 0 0 39206 chr20 17610535 17610535 C T rs11551701 RRBP1 Synonymous SNV T894T 0.073 0.078 0.051 29 86 30 0.074 15 1 1 1 0 10.66 39207 chr3 124462808 124462808 C T rs13146 UMPS Synonymous SNV G440G 0.129 0.13 0.146 55 152 50 0.141 43 8 1 3 4 Benign 16.12 39208 chr3 124515308 124515308 A G rs1803825 ITGB5 Synonymous SNV F387F 0.15 0.151 0.173 62 176 58 0.159 51 13 2 5 5 7.56 39209 chr3 124515509 124515509 G A rs2291088 ITGB5 Synonymous SNV S320S 0.118 0.109 0.133 55 139 42 0.141 39 7 1 3 4 8.379 39210 chr3 124646594 124646594 A G rs4679392 MUC13 Nonsynonymous SNV I99T 0.407 0.409 0.439 158 478 157 0.405 129 95 29 30 32 0.047 39211 chr3 124646837 124646837 G A rs4679394 MUC13 Nonsynonymous SNV A18V 0.137 0.138 0.15 61 161 53 0.156 44 7 1 4 5 7.206 39212 chr20 18162405 18162405 T A rs139667492 KAT14 Nonsynonymous SNV Y575N 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 20.3 39213 chr20 16347929 16347929 C A rs73093402 KIF16B Nonsynonymous SNV Q1347H 0.025 0.016 0.031 7 29 6 0.018 9 0 0 0 0 0.292 39214 chr20 16348291 16348291 T G rs41306786 KIF16B Nonsynonymous SNV M1227L 0.025 0.016 0.031 7 29 6 0.018 9 0 0 0 0 7.598 39215 chr20 18393312 18393312 C G rs6075337 DZANK1 Synonymous SNV L303L 0.783 0.768 0.759 307 919 295 0.787 223 356 115 84 126 6.741 39216 chr20 18393499 18393499 C T rs6075338 DZANK1 0.725 0.719 0.762 299 851 276 0.767 224 351 113 84 126 8.912 39217 chr20 18395988 18395988 C T rs6035037 DZANK1 Nonsynonymous SNV G181S 0.297 0.302 0.282 101 349 116 0.259 83 53 20 11 15 23.3 39218 chr1 93698072 93698072 G A rs77458693 CCDC18 Synonymous SNV Q793Q 0.009 0.021 0.007 5 10 8 0.013 2 0 0 0 0 7.953 39219 chr11 64428496 64428496 G C NRXN2 Nonsynonymous SNV D607E 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 14.82 39220 chr1 91841203 91841203 T G rs113908392 HFM1 Nonsynonymous SNV K493Q 0.005 0.021 0.003 4 6 8 0.01 1 0 0 0 0 27.8 39221 chr20 18414356 18414356 A G rs6035042 DZANK1 Synonymous SNV C94C 0.884 0.88 0.84 342 1038 338 0.877 247 456 146 104 149 0.004 39222 chr1 93704952 93704952 A G rs41292127 CCDC18 Nonsynonymous SNV N896D 0.009 0.021 0.007 5 10 8 0.013 2 0 0 0 0 11.45 39223 chr20 17474791 17474791 G A rs6080717 BFSP1 Synonymous SNV T517T 0.283 0.258 0.245 136 332 99 0.349 72 45 16 11 23 Benign 11.68 39224 chr3 124826408 124826408 T C rs6773138 SLC12A8 Nonsynonymous SNV K541R 0.029 0.026 0.024 11 34 10 0.028 7 1 0 0 0 0.002 39225 chr20 18446022 18446022 C A rs74875927 DZANK1, DZANK1 Nonsynonymous SNV R3I 0.041 0.044 0.092 12 48 17 0.031 27 8 3 0 1 0.005 39226 chr20 17479617 17479617 G A rs11537702 BFSP1 Synonymous SNV N143N 0.06 0.065 0.034 27 71 25 0.069 10 1 1 0 0 Benign 8.49 39227 chr20 18794711 18794711 G A rs1050346638 SCP2D1 Stop gain W84X 0.007 0.003 0 0 8 1 0 0 0 0 0 0 36 39228 chr3 125725334 125725334 T C rs9833685 SLC41A3 Synonymous SNV Q444Q 0.014 0.01 0.017 3 17 4 0.008 5 0 0 0 0 0.004 39229 chr1 55253394 55253394 G A rs142120104 TTC22 Synonymous SNV P243P 0.009 0.01 0 11 11 4 0.028 0 0 0 0 0 0.57 39230 chr1 87029377 87029377 G A rs377252384 CLCA4 Nonsynonymous SNV R161Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 34 39231 chr20 1895813 1895813 A T rs17855609 SIRPA Nonsynonymous SNV T50S 0.28 0.273 0.269 97 329 105 0.249 79 74 23 16 18 0.001 39232 chr3 125854404 125854404 C T rs114109734 ALDH1L1 Synonymous SNV A381A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.34 39233 chr20 1895815 1895815 A G rs17853846 SIRPA Synonymous SNV T50T 0.284 0.273 0.272 96 334 105 0.246 80 74 23 16 17 0.028 39234 chr3 125855665 125855665 T G rs9282691 ALDH1L1 Nonsynonymous SNV E328A 0 0 0.01 0 0 0 0 3 0 0 1 0 6.096 39235 chr1 40557033 40557033 A G rs1800205 PPT1 Nonsynonymous SNV I134T 0.033 0.036 0.075 11 39 14 0.028 22 1 1 2 0 Benign/Likely benign 15.55 39236 chr20 18142564 18142564 A G rs3828013 KAT14 Synonymous SNV K261K 0.138 0.12 0.19 50 162 46 0.128 56 13 5 6 3 0.861 39237 chr20 1895820 1895820 C T rs17855610 SIRPA Nonsynonymous SNV T52I 0.282 0.273 0.272 97 331 105 0.249 80 71 23 16 17 13.14 39238 chr3 125856695 125856695 C A rs2305230 ALDH1L1 Synonymous SNV L294L 0.18 0.182 0.187 69 211 70 0.177 55 24 4 7 5 8.001 39239 chr1 40705427 40705427 C G rs34141181 RLF Nonsynonymous SNV Q1685E 0.042 0.06 0.058 18 49 23 0.046 17 1 0 1 0 0.039 39240 chr3 125865766 125865766 C A rs2886059 ALDH1L1 Nonsynonymous SNV V229F 0.181 0.182 0.194 69 212 70 0.177 57 24 4 8 5 16.08 39241 chr20 1895826 1895826 G A rs17855611 SIRPA Nonsynonymous SNV R54H 0.29 0.271 0.262 99 340 104 0.254 77 72 23 15 17 0.001 39242 chr20 18143355 18143355 C T rs1205194 KAT14 Synonymous SNV P479P 0.193 0.219 0.224 77 226 84 0.197 66 24 7 5 7 13.2 39243 chr3 125899067 125899067 C G rs4646696 ALDH1L1-AS2 0 0 0.18 0 0 0 0 53 0 0 3 0 10.94 39244 chr20 1895835 1895835 C T rs17855612 SIRPA Nonsynonymous SNV A57V 0.293 0.266 0.265 101 344 102 0.259 78 74 23 15 18 0.004 39245 chr1 40768344 40768344 C T rs3737821 COL9A2 Nonsynonymous SNV V581I 0.02 0.039 0.031 6 24 15 0.015 9 0 0 0 0 Benign/Likely benign 8.863 39246 chr20 1895842 1895842 T C rs17853847 SIRPA Synonymous SNV S59S 0.293 0.273 0.272 101 344 105 0.259 80 75 23 17 18 0.008 39247 chr20 1895889 1895889 G C rs1057114 SIRPA Nonsynonymous SNV G75A 0.3 0.281 0.214 96 352 108 0.246 63 75 24 17 18 0.013 39248 chr3 126219627 126219627 G A rs34025926 UROC1 Synonymous SNV G352G 0.345 0.391 0.354 130 405 150 0.333 104 70 28 19 19 Likely benign 12.37 39249 chr3 126260630 126260630 A G rs12495696 CHST13 Nonsynonymous SNV S79G 0.038 0.029 0.041 12 45 11 0.031 12 2 0 0 0 0.055 39250 chr1 9305445 9305445 A C rs34603401 H6PD Nonsynonymous SNV D162A 0.185 0.208 0.167 79 217 80 0.203 49 21 7 3 11 19.18 39251 chr3 127394820 127394820 C T rs35703629 ABTB1 Synonymous SNV R61R 0.2 0.219 0.194 85 235 84 0.218 57 20 12 6 13 10.24 39252 chr1 41012726 41012726 A C rs41268079 ZNF684 Nonsynonymous SNV E244A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 17.71 39253 chr3 127703085 127703085 G A rs13100951 KBTBD12 Synonymous SNV P612P 0.25 0.198 0.235 77 294 76 0.197 69 39 13 9 10 11.25 39254 chr1 41013015 41013015 C T rs2297755 ZNF684 Synonymous SNV S340S 0.061 0.089 0.102 26 72 34 0.067 30 2 1 0 1 14.42 39255 chr3 127872506 127872506 C T rs11711710 EEFSEC Synonymous SNV G52G 0.098 0.078 0.102 34 115 30 0.087 30 8 1 2 0 15.35 39256 chr20 19261623 19261623 G A rs1569767 SLC24A3 Nonsynonymous SNV V55I 0.525 0.513 0.578 212 616 197 0.544 170 166 48 49 56 10.26 39257 chr3 127872602 127872602 A G rs11719546 EEFSEC Synonymous SNV P84P 0.095 0.078 0.102 32 112 30 0.082 30 8 1 2 0 0.301 39258 chr1 41327390 41327390 A C rs146577223 CITED4 Nonsynonymous SNV I137S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 32 39259 chr20 1961134 1961134 A G rs6045819 PDYN Synonymous SNV H200H 0.113 0.117 0.129 64 133 45 0.164 38 9 1 1 7 Benign 0.006 39260 chr20 1961298 1961298 T G rs77155664 PDYN Nonsynonymous SNV M146L 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Benign/Likely benign 0.002 39261 chr3 128292060 128292060 G A rs2734045 LINC01565 0 0 0.483 0 0 0 0 142 0 0 35 0 2.43 39262 chr3 128292213 128292213 A G rs2734046 LINC01565 0 0 0.796 0 0 0 0 234 0 0 92 0 0.143 39263 chr3 128369491 128369491 G A rs139641730 RPN1 Synonymous SNV A51A 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 12.74 39264 chr20 19970705 19970705 C T rs2076584 RIN2 Synonymous SNV H606H 0.365 0.326 0.303 152 429 125 0.39 89 75 23 11 31 Benign 13.74 39265 chr20 20006368 20006368 T C rs7263 NAA20 Synonymous SNV Y42Y 0.084 0.089 0.112 38 99 34 0.097 33 4 4 0 1 0.007 39266 chr20 20033137 20033137 T A rs2255258 CRNKL1 Nonsynonymous SNV Q99H 0.595 0.62 0.588 251 698 238 0.644 173 206 75 50 81 0.007 39267 chr20 20032998 20032998 T C rs2255255 CRNKL1 Nonsynonymous SNV T146A 0.447 0.479 0.429 188 525 184 0.482 126 123 53 21 41 1.031 39268 chr11 65123754 65123754 C A rs61978625 TIGD3 Nonsynonymous SNV Q159K 0.045 0.034 0.027 8 53 13 0.021 8 2 0 0 0 9.346 39269 chr20 20144772 20144772 G A rs6081901 CFAP61 Nonsynonymous SNV V369I 0.54 0.539 0.51 221 634 207 0.567 150 186 59 35 60 0.065 39270 chr20 20150027 20150027 C T rs6075630 CFAP61 Synonymous SNV N436N 0.204 0.216 0.214 92 240 83 0.236 63 31 9 8 9 11.26 39271 chr3 128588506 128588506 G A rs776555610 LOC653712 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 39272 chr20 20033242 20033242 A T rs2273057 CRNKL1 Synonymous SNV V64V 0.447 0.479 0.425 188 525 184 0.482 125 123 53 21 41 3.199 39273 chr20 20033319 20033319 A G rs2273058 CRNKL1 Nonsynonymous SNV F39L 0.447 0.479 0.425 188 525 184 0.482 125 123 53 21 41 0.038 39274 chr20 1212186 1212186 A G rs77353889 RAD21L1 Synonymous SNV P97P 0.037 0.031 0.041 13 44 12 0.033 12 1 0 0 1 7.949 39275 chr20 20493222 20493222 G A rs35039408 RALGAPA2 Synonymous SNV P1597P 0.453 0.456 0.391 176 532 175 0.451 115 101 40 23 40 8.046 39276 chr3 12861586 12861586 T C rs4684883 CAND2 Synonymous SNV G889G 0.224 0.208 0.255 96 263 80 0.246 75 25 7 7 10 11.66 39277 chr3 12861608 12861608 G A rs3817121 CAND2 Nonsynonymous SNV V897I 0.203 0.193 0.248 88 238 74 0.226 73 19 6 7 9 23.7 39278 chr20 20033367 20033367 C G rs7508949 CRNKL1, CRNKL1 Nonsynonymous SNV G35R 0.425 0.464 0.388 180 499 178 0.462 114 113 49 19 37 0.011 39279 chr20 1286091 1286091 A G rs144338745 SNPH Nonsynonymous SNV Y293C 0.003 0 0 0 3 0 0 0 0 0 0 0 14.21 39280 chr20 21494184 21494184 C T rs8192562 NKX2-2 Nonsynonymous SNV A42T 0.092 0.076 0.092 26 108 29 0.067 27 4 2 2 2 9.985 39281 chr11 48387304 48387304 A C OR4C5 Synonymous SNV S238S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 39282 chr3 128663991 128663991 G A rs34092381 KIAA1257 Synonymous SNV D436D 0.154 0.195 0.153 56 181 75 0.144 45 12 2 4 1 1.449 39283 chr20 20033380 20033380 A G rs3817995 CRNKL1 Synonymous SNV S30S 0.444 0.474 0.418 187 521 182 0.479 123 123 53 21 41 0.543 39284 chr1 62579907 62579907 C T rs7418709 PATJ Synonymous SNV I1548I 0.073 0.073 0.068 29 86 28 0.074 20 0 3 1 2 13.18 39285 chr3 128664549 128664549 G T rs13059115 KIAA1257 Synonymous SNV A250A 0.154 0.195 0.153 57 181 75 0.146 45 12 2 4 1 1.85 39286 chr20 1291018 1291018 G A rs11449 FKBP1A-SDCBP2 0.247 0.245 0.187 102 290 94 0.262 55 43 16 5 17 4.658 39287 chr1 94996062 94996062 C T rs3789683 F3 Nonsynonymous SNV E228K 0.01 0.01 0 0 12 4 0 0 0 0 0 0 Benign 16.65 39288 chr20 20348962 20348962 C T rs111558392 INSM1 Synonymous SNV S17S 0.147 0.151 0.126 56 172 58 0.144 37 11 2 2 6 11.53 39289 chr3 129137188 129137188 C T rs62266958 EFCAB12 Nonsynonymous SNV R197H 0.061 0.057 0.058 20 72 22 0.051 17 3 0 1 0 9.949 39290 chr20 2291715 2291715 C T rs371398179 TGM3 Synonymous SNV A160A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.09 39291 chr20 2082732 2082732 C G rs6112857 STK35 Nonsynonymous SNV R69G 0.374 0.385 0.337 140 439 148 0.359 99 93 34 23 26 8.994 39292 chr3 129284818 129284818 A C rs2625973 PLXND1 Nonsynonymous SNV L1412V 0.293 0.268 0.323 93 344 103 0.238 95 46 16 16 10 20.7 39293 chr11 65386062 65386062 G A rs755865706 PCNX3 Nonsynonymous SNV R410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 39294 chr3 129286413 129286413 G C rs2245285 PLXND1 Synonymous SNV L1336L 0.372 0.341 0.374 125 437 131 0.321 110 75 22 21 19 8.287 39295 chr3 129286635 129286635 G A rs2245278 PLXND1 Synonymous SNV F1293F 0.292 0.268 0.327 93 343 103 0.238 96 45 16 16 10 11.62 39296 chr3 129291751 129291751 T C rs2244708 PLXND1 Synonymous SNV P957P 0.364 0.328 0.371 125 427 126 0.321 109 68 22 22 19 0.029 39297 chr1 62582243 62582243 C T rs781178639 PATJ Synonymous SNV G1565G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.2 39298 chr3 129293256 129293256 T C rs2255703 PLXND1 Nonsynonymous SNV M870V 0.433 0.435 0.473 166 508 167 0.426 139 102 32 37 38 0.001 39299 chr20 13830137 13830137 A C rs2073290 SEL1L2 Nonsynonymous SNV H444Q 0.22 0.245 0.235 74 258 94 0.19 69 29 7 9 6 0.001 39300 chr3 129297223 129297223 C G rs1110168 PLXND1 Synonymous SNV T765T 0.193 0.182 0.276 57 226 70 0.146 81 18 7 13 3 13.02 39301 chr3 129373844 129373844 C T rs368659931 TMCC1 Synonymous SNV A365A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.58 39302 chr3 129546664 129546664 C T rs72987361 TMCC1 Synonymous SNV E72E 0.127 0.099 0.146 40 149 38 0.103 43 14 1 5 4 0.634 39303 chr20 23065879 23065879 G A rs34170527 CD93 Synonymous SNV C317C 0.055 0.055 0.092 19 65 21 0.049 27 0 1 0 0 3.103 39304 chr20 23618427 23618427 C T rs1064039 CST3 Nonsynonymous SNV A25T 0.17 0.146 0.15 49 200 56 0.126 44 17 4 4 1 Conflicting interpretations of pathogenicity 2.815 39305 chr1 9075221 9075221 G A rs35776221 SLC2A7 Nonsynonymous SNV R224C 0.01 0.008 0.003 1 12 3 0.003 1 0 0 0 0 26.9 39306 chr1 908986 908986 A G rs543022211 PLEKHN1 Nonsynonymous SNV H432R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.199 39307 chr20 24523893 24523893 G A rs6083553 SYNDIG1 Nonsynonymous SNV G54R 0.014 0.021 0.017 14 16 8 0.036 5 0 0 0 1 8.545 39308 chr1 43708928 43708928 G A rs185084915 CFAP57 Nonsynonymous SNV E1179K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.4 39309 chr20 24994289 24994289 C T rs6050249 ACSS1 Nonsynonymous SNV V367M 0.182 0.19 0.18 70 214 73 0.179 53 19 5 5 2 13.23 39310 chr1 91404256 91404256 C A rs41286761 ZNF644 Nonsynonymous SNV E885D 0.02 0.013 0.014 6 23 5 0.015 4 0 0 0 0 11.41 39311 chr20 10639222 10639222 G A rs1801138 JAG1 Synonymous SNV C196C 0.083 0.096 0.119 32 97 37 0.082 35 4 0 1 5 Benign 9.725 39312 chr20 1559259 1559259 C T rs2746603 SIRPB1 Nonsynonymous SNV R53H 0.056 0.047 0.051 32 66 18 0.082 15 11 0 3 7 0.661 39313 chr20 25259006 25259006 G T rs2228976 PYGB Nonsynonymous SNV A303S 0.141 0.177 0.139 53 166 68 0.136 41 9 6 2 4 26.5 39314 chr3 130284289 130284289 C T rs186747246 COL6A6 Synonymous SNV S371S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.481 39315 chr20 25262769 25262769 G A rs2227891 PYGB Nonsynonymous SNV D502N 0.135 0.172 0.136 54 158 66 0.138 40 9 5 2 4 21.7 39316 chr11 65746136 65746136 G T rs11545221 SART1 Synonymous SNV R746R 0.019 0.018 0.014 7 22 7 0.018 4 0 0 1 0 10.76 39317 chr11 65766092 65766092 C T rs2276017 EIF1AD Nonsynonymous SNV S159N 0.019 0.018 0.017 7 22 7 0.018 5 0 0 1 0 13.37 39318 chr20 24939590 24939590 G C rs1056033 CST7 Synonymous SNV L90L 0.507 0.482 0.466 196 595 185 0.503 137 147 44 31 57 0.006 39319 chr20 25276297 25276297 G A rs1130694 PYGB Synonymous SNV Q790Q 0.336 0.375 0.378 120 395 144 0.308 111 79 29 20 20 11.4 39320 chr20 1224774 1224774 A C rs17717241 RAD21L1 Nonsynonymous SNV H423P 0.108 0.076 0.102 43 127 29 0.11 30 8 0 2 3 0.133 39321 chr1 65614154 65614154 T A rs17853973 AK4 Nonsynonymous SNV C22S 0.048 0.057 0.007 23 56 22 0.059 2 3 1 0 1 1.091 39322 chr20 25059381 25059381 A T rs56157240 VSX1 Synonymous SNV P237P 0.267 0.263 0.204 102 313 101 0.262 60 35 11 8 12 2.771 39323 chr20 25288632 25288632 G A rs6107027 ABHD12 Synonymous SNV R279R 0.359 0.326 0.524 168 422 125 0.431 154 164 47 39 67 Benign 8.588 39324 chr20 126149 126149 T C rs75442118 DEFB126 Nonsynonymous SNV M51T 0.046 0.047 0.044 24 54 18 0.062 13 3 0 0 1 0.001 39325 chr20 25059546 25059546 T C rs12480307 VSX1 Synonymous SNV A182A 0.266 0.263 0.204 103 312 101 0.264 60 35 11 8 12 Benign 6.701 39326 chr20 25398790 25398790 G A rs6076347 GINS1 Nonsynonymous SNV V97I 0.486 0.471 0.452 213 571 181 0.546 133 140 45 28 60 0.262 39327 chr20 168558 168558 A G rs74181522 DEFB128 Nonsynonymous SNV I84T 0.031 0.021 0.017 7 36 8 0.018 5 0 0 0 0 10.6 39328 chr11 65825850 65825850 G C SF3B2 Nonsynonymous SNV D314H 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 23.5 39329 chr3 133337198 133337198 T G rs753690745 TOPBP1 Synonymous SNV R1146R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.56 39330 chr20 17511868 17511868 G A rs549462369 BFSP1 Nonsynonymous SNV A36V 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 2.009 39331 chr1 6420661 6420661 C A rs146144846 ACOT7 Nonsynonymous SNV D18Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 1.013 39332 chr3 133474328 133474328 G A rs12769 TF Synonymous SNV S81S 0.277 0.216 0.255 89 325 83 0.228 75 48 9 12 11 Benign 4.431 39333 chr20 17511869 17511869 C A rs561046384 BFSP1 Nonsynonymous SNV A36S 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 0.003 39334 chr20 25434139 25434139 C T rs17857107 NINL Nonsynonymous SNV R1017H 0.072 0.07 0.099 28 85 27 0.072 29 2 2 0 1 15.46 39335 chr1 45524311 45524311 C T rs77616762 ZSWIM5 Nonsynonymous SNV D408N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 26.4 39336 chr20 2638579 2638579 T C rs6753 NOP56 Nonsynonymous SNV M475T 0.263 0.281 0.316 125 309 108 0.321 93 36 16 15 22 Likely benign 0.001 39337 chr20 25457022 25457022 T C rs6115193 NINL Nonsynonymous SNV R969G 0.078 0.073 0.088 28 92 28 0.072 26 4 2 0 1 3.043 39338 chr3 13361333 13361333 G A rs201502809 NUP210 Synonymous SNV P1771P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.175 39339 chr20 25459764 25459764 T G rs11905437 NINL Synonymous SNV R666R 0.08 0.073 0.095 28 94 28 0.072 28 4 2 0 1 1.647 39340 chr20 2638882 2638882 T C rs5856 NOP56 Nonsynonymous SNV V576A 0.261 0.281 0.313 127 307 108 0.326 92 36 16 15 22 Likely benign 0.002 39341 chr1 92646834 92646834 T G KIAA1107 Synonymous SNV S685S 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 0.002 39342 chr20 13912309 13912309 G A rs41275404 SEL1L2 Nonsynonymous SNV R75C 0.175 0.115 0 82 205 44 0.21 0 22 3 0 8 22.4 39343 chr20 25477427 25477427 C T rs143652872 NINL Synonymous SNV E394E 0.027 0.026 0.01 12 32 10 0.031 3 1 0 0 0 11.89 39344 chr11 66136063 66136063 G T SLC29A2 Nonsynonymous SNV S165R 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 24.5 39345 chr20 25484605 25484605 C G rs753560205 NINL Nonsynonymous SNV A282P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.063 39346 chr1 6533387 6533387 T C rs199794578 PLEKHG5 Nonsynonymous SNV D240G 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 21.3 39347 chr1 6649228 6649228 T G rs2229330 ZBTB48 Nonsynonymous SNV S675A 0.066 0.052 0.041 23 78 20 0.059 12 4 1 0 0 17.14 39348 chr1 92696989 92696989 T A rs145681037 C1orf146 Nonsynonymous SNV S4R 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 15.73 39349 chr20 2841449 2841449 C T rs752294450 VPS16 Synonymous SNV H190H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.65 39350 chr1 45887466 45887466 C T rs147189690 TESK2 Nonsynonymous SNV S9N 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 11.45 39351 chr1 92711110 92711110 C T rs367670494 C1orf146 Nonsynonymous SNV P141L 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 29.6 39352 chr20 30070239 30070239 C A rs2233832 REM1 Synonymous SNV I191I 0.103 0.112 0.099 39 121 43 0.1 29 8 2 2 0 20.5 39353 chr1 6714028 6714028 G A rs139899213 DNAJC11 Synonymous SNV S150S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.88 39354 chr20 30232673 30232673 G A rs11907253 COX4I2 Nonsynonymous SNV R161H 0.092 0.104 0.065 41 108 40 0.105 19 5 0 1 0 Benign/Likely benign 16.32 39355 chr20 30345315 30345315 C G TPX2 Synonymous SNV A12A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.89 39356 chr11 66407209 66407209 G T rs113222915 RBM4 Synonymous SNV L9L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.465 39357 chr20 30409452 30409452 T C rs6058469 MYLK2 Synonymous SNV I228I 0.104 0.117 0.068 41 122 45 0.105 20 7 0 1 0 Benign/Likely benign 3.25 39358 chr11 66457516 66457516 C T rs145750214 SPTBN2 Nonsynonymous SNV R1935H 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 Uncertain significance 34 39359 chr3 135720540 135720540 A G rs9814557 PPP2R3A Nonsynonymous SNV D67G 0.319 0.31 0.32 125 375 119 0.321 94 65 20 14 19 23.1 39360 chr20 2635212 2635212 A G rs2273137 NOP56 Nonsynonymous SNV I121V 0.062 0.081 0.065 25 73 31 0.064 19 4 2 1 2 Likely benign 12.51 39361 chr20 30436641 30436641 G C rs12480322 DUSP15 Nonsynonymous SNV Q232E 0.106 0.117 0.071 44 125 45 0.113 21 5 0 1 0 0.002 39362 chr3 135720673 135720673 T C rs9872542 PPP2R3A Synonymous SNV D111D 0.325 0.318 0.32 127 381 122 0.326 94 68 21 14 20 0.017 39363 chr20 30436666 30436666 G A rs12480325 DUSP15 Synonymous SNV F223F 0.106 0.117 0.071 44 124 45 0.113 21 5 0 1 0 8.895 39364 chr3 135722264 135722264 A G rs17197552 PPP2R3A Nonsynonymous SNV S642G 0.325 0.318 0.32 127 382 122 0.326 94 69 21 14 20 8.479 39365 chr20 30522545 30522545 C T rs148917180 TTLL9 Synonymous SNV H188H 0.011 0.008 0 5 13 3 0.013 0 0 0 0 0 5.275 39366 chr3 136088038 136088038 G A rs9860801 STAG1 Synonymous SNV F819F 0.376 0.336 0.388 140 441 129 0.359 114 87 22 25 27 10.6 39367 chr1 9324104 9324104 G A rs147469469 H6PD Nonsynonymous SNV G529S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.013 39368 chr20 30661605 30661605 A T rs55722810 HCK Nonsynonymous SNV M84L 0.011 0.013 0.007 3 13 5 0.008 2 1 0 0 0 5.356 39369 chr20 278515 278515 T C rs2223665 ZCCHC3 Synonymous SNV D96D 0.349 0.313 0.282 153 410 120 0.392 83 177 54 37 66 0.004 39370 chr3 136574521 136574521 C T rs1052620 SLC35G2 Synonymous SNV L407L 0.282 0.25 0.289 106 331 96 0.272 85 50 9 14 16 7.876 39371 chr20 30795819 30795819 T C rs1923095 POFUT1 Synonymous SNV P25P 0.489 0.513 0.514 184 574 197 0.472 151 137 48 44 38 Benign 0.041 39372 chr20 2945759 2945759 C T rs1178027 PTPRA Nonsynonymous SNV P109L 0.076 0.068 0.058 25 89 26 0.064 17 4 1 1 1 15.61 39373 chr1 70225923 70225923 G A rs1340770 LRRC7 Synonymous SNV V51V 0.034 0.034 0.034 21 40 13 0.054 10 0 0 0 0 9.793 39374 chr1 6649029 6649029 G A rs760520804 ZBTB48 Synonymous SNV P608P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.39 39375 chr1 70687329 70687329 A G rs777093036 SRSF11 Nonsynonymous SNV T4A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 20.9 39376 chr20 31024274 31024274 T C rs4911231 ASXL1 Synonymous SNV S1192S 0.307 0.32 0.299 115 360 123 0.295 88 59 18 13 15 Benign 6.635 39377 chr20 29976949 29976949 C A rs17327630 DEFB119 Nonsynonymous SNV C48F 0.052 0.049 0.051 17 61 19 0.044 15 1 1 0 1 30 39378 chr1 6662256 6662256 C T rs764672703 KLHL21 Nonsynonymous SNV A208T 0.004 0 0 0 5 0 0 0 0 0 0 0 23.1 39379 chr1 70900817 70900817 C T rs906602385 CTH Synonymous SNV L305L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 14.88 39380 chr1 46500744 46500744 G C rs3737737 MAST2 Nonsynonymous SNV G1467A 0.035 0.026 0.058 7 41 10 0.018 17 1 0 0 0 20.9 39381 chr20 31238627 31238627 C T rs7272020 C20orf203 Synonymous SNV A64A 0.33 0.292 0.272 136 388 112 0.349 80 56 17 14 24 7.543 39382 chr1 71873154 71873154 T G rs41289154 NEGR1 Nonsynonymous SNV Y347S 0.024 0.01 0.007 5 28 4 0.013 2 0 0 0 0 26.1 39383 chr20 3146400 3146400 G T rs145170533 LZTS3 Synonymous SNV R356R 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 7.257 39384 chr20 3028446 3028446 C T rs41281234 MRPS26 Synonymous SNV S183S 0.016 0.021 0.003 5 19 8 0.013 1 0 0 0 0 10.82 39385 chr20 30584710 30584710 C T rs61750849 XKR7 Nonsynonymous SNV A397V 0.101 0.112 0.071 37 118 43 0.095 21 6 3 1 2 10.58 39386 chr1 74507315 74507315 C T rs17094777 LRRIQ3 Nonsynonymous SNV E434K 0.058 0.063 0.031 20 68 24 0.051 9 1 0 0 0 10.23 39387 chr20 31496192 31496192 A G rs67457409 EFCAB8 Nonsynonymous SNV N474D 0.014 0.018 0.003 4 17 7 0.01 1 0 0 0 0 5.622 39388 chr20 30915461 30915461 T C rs1129012 KIF3B Synonymous SNV Y655Y 0.182 0.185 0.204 73 214 71 0.187 60 14 8 9 4 2.918 39389 chr20 31518298 31518298 A G rs6058961 EFCAB8 Nonsynonymous SNV E836G 0.294 0.333 0.279 147 345 128 0.377 82 50 20 17 33 0.062 39390 chr1 9416151 9416151 G A rs9435243 SPSB1 Synonymous SNV V67V 0.258 0.253 0.228 89 303 97 0.228 67 43 15 11 7 2.869 39391 chr1 74648408 74648408 C T rs17094900 LRRIQ3 Nonsynonymous SNV M129I 0.057 0.063 0.031 20 67 24 0.051 9 1 0 0 0 24.1 39392 chr20 31596472 31596472 A T rs6088066 BPIFB2 Nonsynonymous SNV K31M 0.265 0.286 0.248 116 311 110 0.297 73 43 16 14 20 17.36 39393 chr20 2097688 2097688 T C rs1891227 STK35 Synonymous SNV A423A 0.044 0.031 0.058 20 52 12 0.051 17 0 0 1 1 0.674 39394 chr20 31466534 31466534 C T rs13037496 EFCAB8 Nonsynonymous SNV R118C 0.483 0.479 0.503 220 567 184 0.564 148 134 42 38 65 28.1 39395 chr20 31619500 31619500 C T rs17301126 BPIFB6 Nonsynonymous SNV T16M 0.124 0.167 0.102 44 145 64 0.113 30 5 3 1 2 5.798 39396 chr3 140275479 140275479 G A rs36054782 CLSTN2 Nonsynonymous SNV R600H 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 23.3 39397 chr20 31622083 31622083 G A rs2070317 BPIFB6 Nonsynonymous SNV V97I 0.494 0.516 0.446 184 580 198 0.472 131 148 45 32 43 14.3 39398 chr20 2297790 2297790 G A rs214814 TGM3 Nonsynonymous SNV S249N 0.112 0.094 0.133 35 132 36 0.09 39 8 3 2 2 0.689 39399 chr20 31624300 31624300 C T rs17373408 BPIFB6 Synonymous SNV S209S 0.135 0.172 0.119 52 158 66 0.133 35 7 3 1 3 11.86 39400 chr20 31505189 31505189 C T rs13043425 EFCAB8 Nonsynonymous SNV R647W 0.193 0.214 0.194 86 226 82 0.221 57 21 8 6 9 27.2 39401 chr20 31627291 31627291 A G rs4911287 BPIFB6 Nonsynonymous SNV S347G 0.373 0.349 0.344 143 438 134 0.367 101 87 21 19 28 0.005 39402 chr1 75009607 75009607 A G rs147226361 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV M817V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 39403 chr20 31652292 31652292 G A rs4911290 BPIFB3 Nonsynonymous SNV V228M 0.352 0.318 0.344 134 413 122 0.344 101 74 19 20 17 17.71 39404 chr20 23028724 23028724 G A rs1042579 THBD Nonsynonymous SNV A473V 0.077 0.081 0.126 25 90 31 0.064 37 5 2 3 0 Benign 2.285 39405 chr20 31652596 31652596 C T rs2093066 BPIFB3 Nonsynonymous SNV T290M 0.137 0.169 0.126 54 161 65 0.138 37 8 3 1 2 23.1 39406 chr1 94476467 94476467 T A rs1801466 ABCA4 Nonsynonymous SNV N1868I 0.052 0.055 0.058 25 61 21 0.064 17 3 2 0 2 Conflicting interpretations of pathogenicity 26.2 39407 chr3 14106310 14106310 - CCAGCACCAGCAGTC rs59708448 TPRXL 0 0 0.507 0 0 0 0 149 0 0 45 0 39408 chr20 31656632 31656632 C G rs6057717 BPIFB3 Nonsynonymous SNV H334Q 0.351 0.318 0.34 134 412 122 0.344 100 75 20 20 18 9.98 39409 chr3 14106499 14106499 G A rs2607779 TPRXL 0 0 0.561 0 0 0 0 165 0 0 50 0 2.912 39410 chr1 94496602 94496602 G T rs1801666 ABCA4 Synonymous SNV P1401P 0.018 0.029 0.024 9 21 11 0.023 7 0 0 0 0 Benign/Likely benign 10.03 39411 chr3 14180706 14180706 C T rs35100587 TMEM43 Synonymous SNV S303S 0.024 0.026 0.044 3 28 10 0.008 13 0 0 0 0 Benign 15.78 39412 chr20 31660543 31660543 C T rs378098 BPIFB3 Nonsynonymous SNV P449S 0.135 0.167 0.133 54 159 64 0.138 39 8 3 1 2 25.8 39413 chr20 31671619 31671619 G T rs2424943 BPIFB4 Nonsynonymous SNV G206W 0.096 0.135 0.109 34 113 52 0.087 32 2 2 1 2 27.9 39414 chr3 141900367 141900367 G A rs9866012 GK5 Synonymous SNV V328V 0.039 0.023 0.017 16 46 9 0.041 5 2 0 0 1 15.23 39415 chr20 31671628 31671628 C T rs2424944 BPIFB4 Synonymous SNV L209L 0.093 0.135 0.109 33 109 52 0.085 32 2 2 1 2 13.78 39416 chr20 31673846 31673846 A G rs2070325 BPIFB4 Nonsynonymous SNV I268V 0.318 0.305 0.316 126 373 117 0.323 93 58 19 17 18 19.11 39417 chr20 31676804 31676804 A C rs2889732 BPIFB4 Nonsynonymous SNV N320T 0.332 0.31 0.327 133 390 119 0.341 96 67 20 18 23 23.5 39418 chr20 31805464 31805464 C A rs17124391 BPIFA3 Nonsynonymous SNV A41E 0.016 0.01 0.024 5 19 4 0.013 7 0 0 0 0 22.6 39419 chr20 17597482 17597482 G A rs41290441 RRBP1 Synonymous SNV V1254V 0.027 0.029 0.024 10 32 11 0.026 7 0 0 0 0 13.79 39420 chr20 31685511 31685511 C T rs199856517 BPIFB4 Nonsynonymous SNV A496V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.6 39421 chr20 31876681 31876681 A G rs1078761 BPIFB1 Nonsynonymous SNV I84V 0.362 0.32 0.276 139 425 123 0.356 81 73 19 12 23 0.008 39422 chr1 955597 955597 G T rs115173026 AGRN Synonymous SNV P15P 0.042 0.034 0.201 19 49 13 0.049 59 15 6 10 5 Benign 8.15 39423 chr20 17605269 17605269 C T rs61742496 RRBP1 Synonymous SNV T1033T 0.024 0.029 0.024 11 28 11 0.028 7 0 0 0 0 12.57 39424 chr1 77099858 77099858 A C rs143870928 ST6GALNAC3 Nonsynonymous SNV E223D 0.03 0.042 0 20 35 16 0.051 0 0 1 0 0 0.641 39425 chr20 17608170 17608170 C T rs2229888 RRBP1 Synonymous SNV A969A 0.024 0.029 0.024 11 28 11 0.028 7 0 0 0 0 18.8 39426 chr1 77510008 77510008 C A rs35763299 ST6GALNAC5 Synonymous SNV P127P 0.055 0.057 0.051 18 65 22 0.046 15 0 2 0 0 12.41 39427 chr20 31981849 31981849 T C rs291700 CDK5RAP1 Synonymous SNV T144T 0.687 0.727 0.66 274 806 279 0.703 194 293 104 60 95 1.554 39428 chr20 32000520 32000520 G C rs56157422 SNTA1 Nonsynonymous SNV A257G 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 39429 chr1 48240955 48240955 G A rs550842849 TRABD2B Synonymous SNV P412P 0.002 0.01 0 0 2 4 0 0 0 0 0 0 12.8 39430 chr20 24964558 24964558 T C rs12242 APMAP Nonsynonymous SNV I65V 0.029 0.013 0.01 6 34 5 0.015 3 2 0 0 0 19.79 39431 chr20 17932210 17932210 C T rs2273448 SNX5 Synonymous SNV E76E 0.227 0.229 0.146 94 266 88 0.241 43 40 13 3 9 14.24 39432 chr20 17968923 17968923 T C rs28455091 MGME1 Synonymous SNV D202D 0.232 0.232 0.224 95 272 89 0.244 66 41 13 4 10 Benign 0.109 39433 chr3 145799536 145799536 T C PLOD2 Synonymous SNV Q449Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.782 39434 chr3 145828082 145828082 C G rs749545427 PLOD2 Synonymous SNV L164L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.68 39435 chr20 18142462 18142462 A G rs80113248 KAT14 0.112 0.12 0.068 41 132 46 0.105 20 6 3 1 1 0.001 39436 chr20 32000462 32000462 C T rs35938843 SNTA1 Synonymous SNV K276K 0.011 0.008 0.003 3 13 3 0.008 1 1 0 0 0 Conflicting interpretations of pathogenicity 11.36 39437 chr20 32255441 32255441 C A rs147746551 ACTL10 Nonsynonymous SNV N46K 0.012 0.023 0.003 7 14 9 0.018 1 0 0 0 0 22.6 39438 chr1 9793462 9793462 C T rs376202745 CLSTN1 Synonymous SNV V789V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.32 39439 chr20 32341041 32341041 C T rs45577437 ZNF341 Nonsynonymous SNV P95S 0.012 0.023 0.003 7 14 9 0.018 1 0 0 0 0 12.58 39440 chr1 48713206 48713206 T C rs7535096 SLC5A9 Synonymous SNV Y679Y 0.08 0.094 0.071 29 94 36 0.074 21 4 2 1 0 0.048 39441 chr3 146234909 146234909 G A rs343320 PLSCR1 Nonsynonymous SNV H181Y 0.1 0.112 0.099 33 117 43 0.085 29 8 3 0 1 19.39 39442 chr20 32664864 32664864 - CAG rs10649600 RALY A214_G215insS 0.715 0.719 0.707 280 839 276 0.718 208 300 98 73 97 39443 chr3 147108756 147108756 C G rs17509456 ZIC4 Synonymous SNV S116S 0.042 0.031 0.065 23 49 12 0.059 19 1 0 0 2 Benign 16.9 39444 chr20 32664926 32664926 G A rs2281209 RALY Nonsynonymous SNV G235S 0.065 0.042 0.054 26 76 16 0.067 16 2 0 0 0 0.013 39445 chr3 147113821 147113821 G C rs62001026 ZIC4 Nonsynonymous SNV A219G 0.015 0.021 0.01 11 18 8 0.028 3 1 0 0 0 15.04 39446 chr3 14712473 14712473 G A rs1901 CCDC174 Synonymous SNV P392P 0.327 0.318 0.32 142 384 122 0.364 94 67 21 15 27 16.07 39447 chr20 32376748 32376748 C T rs34260449 ZNF341 Synonymous SNV H554H 0.026 0.034 0.034 8 30 13 0.021 10 0 1 0 0 16.72 39448 chr3 14724413 14724413 G A rs9821143 C3orf20 Nonsynonymous SNV D65N 0.32 0.302 0.323 137 376 116 0.351 95 65 20 14 27 8.358 39449 chr20 33565480 33565480 C T rs6060137 MYH7B Synonymous SNV A17A 0.198 0.188 0.19 73 232 72 0.187 56 21 7 7 7 12.62 39450 chr20 33173306 33173306 G C rs77859489 PIGU Synonymous SNV L287L 0.013 0.01 0.007 4 15 4 0.01 2 0 0 0 0 9.259 39451 chr20 25666642 25666642 C T rs6115256 ZNF337 Synonymous SNV L48L 0.043 0.036 0.061 11 50 14 0.028 18 2 0 0 0 11.87 39452 chr20 33451148 33451148 G A rs11546155 GGT7 Synonymous SNV L125L 0.116 0.107 0.095 33 136 41 0.085 28 7 4 2 2 11.66 39453 chr20 33524784 33524784 T C rs762661447 GSS Nonsynonymous SNV I217M 0.006 0.005 0 0 7 2 0 0 0 0 0 0 26 39454 chr1 8390327 8390327 C T rs150216502 SLC45A1 Synonymous SNV F258F 0.003 0 0 0 3 0 0 0 0 0 0 0 10.57 39455 chr11 70336479 70336479 C T rs117843717 SHANK2 Nonsynonymous SNV R230H 0.023 0.01 0 7 27 4 0.018 0 1 0 0 0 Conflicting interpretations of pathogenicity 33 39456 chr3 148727133 148727133 G A rs4938 GYG1 Synonymous SNV P184P 0.253 0.294 0.299 98 297 113 0.251 88 36 18 12 12 Benign 10.23 39457 chr3 148759325 148759325 T C rs2290725 HLTF Synonymous SNV A775A 0.259 0.299 0.296 103 304 115 0.264 87 37 19 12 13 5.047 39458 chr20 33865588 33865588 G C rs6060343 MMP24OS Nonsynonymous SNV Q49E 0.026 0.01 0 24 30 4 0.062 0 5 0 0 5 2.413 39459 chr3 148863151 148863151 A G rs11718908 HPS3 Synonymous SNV T162T 0.161 0.185 0.173 80 189 71 0.205 51 17 5 6 7 Benign 2.177 39460 chr20 33874720 33874720 C T rs2425049 FAM83C Nonsynonymous SNV R621Q 0.175 0.174 0.224 81 206 67 0.208 66 20 4 10 15 4.529 39461 chr20 33586968 33586968 G A rs41307159 MYH7B Nonsynonymous SNV D1476N 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 31 39462 chr20 34022196 34022196 C T rs224330 GDF5 Synonymous SNV K339K 0.073 0.047 0.065 28 86 18 0.072 19 1 0 1 3 Benign 10.97 39463 chr11 71155129 71155129 G A rs4316537 DHCR7 Synonymous SNV T77T 0.058 0.081 0.071 23 68 31 0.059 21 2 4 1 2 Benign/Likely benign 8.436 39464 chr1 53326421 53326421 A G rs61744306 ZYG11A Star tloss M1? 0.071 0.047 0.024 26 83 18 0.067 7 3 1 0 1 11.69 39465 chr20 33588178 33588180 AAG - rs1064795985 MYH7B K1666del 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 39466 chr1 53347210 53347210 A G rs74990705 ZYG11A Nonsynonymous SNV N264S 0.045 0.029 0.003 13 53 11 0.033 1 1 1 0 1 0.002 39467 chr20 34089718 34089718 G T rs2274238 CEP250 Synonymous SNV L683L 0.032 0.016 0.031 15 37 6 0.038 9 0 0 0 2 11.55 39468 chr20 2795864 2795864 C T rs140149148 C20orf141 Nonsynonymous SNV R12C 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 21.9 39469 chr20 34090519 34090519 G A rs3748433 CEP250 Nonsynonymous SNV R809Q 0.112 0.109 0.119 63 132 42 0.162 35 8 2 1 5 0.001 39470 chr20 34116282 34116282 T C rs7261862 C20orf173 Nonsynonymous SNV K194E 0.223 0.247 0.228 110 262 95 0.282 67 33 14 6 17 2.154 39471 chr20 2797486 2797486 G A rs139086704 TMEM239 Nonsynonymous SNV V96M 0.003 0 0 0 3 0 0 0 0 0 0 0 17.25 39472 chr20 34116307 34116307 C T rs35756561 C20orf173 Synonymous SNV V185V 0.029 0.021 0.024 13 34 8 0.033 7 0 0 0 0 9.627 39473 chr3 150280445 150280445 C G rs1132979 EIF2A Nonsynonymous SNV T72S 0.44 0.427 0.456 181 516 164 0.464 134 119 34 31 46 19.55 39474 chr20 2816821 2816821 C T rs2274669 PCED1A Synonymous SNV P276P 0.207 0.216 0.105 88 243 83 0.226 31 24 7 6 9 13.61 39475 chr11 71191817 71191817 C T rs7121106 NADSYN1 Nonsynonymous SNV P297L 0.054 0.076 0.071 20 63 29 0.051 21 1 4 1 1 22.4 39476 chr20 34207609 34207609 C T rs765589433 SPAG4 Nonsynonymous SNV P263S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 39477 chr20 2844679 2844679 G A rs61729231 VPS16 Nonsynonymous SNV D377N 0.008 0 0 0 9 0 0 0 0 0 0 0 Likely benign 21.2 39478 chr1 7854042 7854042 G A rs775201073 PER3 Synonymous SNV P206P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 3.924 39479 chr1 78601415 78601415 A G rs34561240 GIPC2 Synonymous SNV R238R 0.021 0.031 0.024 7 25 12 0.018 7 0 0 0 0 0.202 39480 chr11 71192439 71192439 C A rs59379414 NADSYN1 Synonymous SNV R346R 0.054 0.076 0.071 20 63 29 0.051 21 1 4 1 1 21.4 39481 chr20 34205731 34205731 G C rs759183957 SPAG4 Synonymous SNV T92T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 14.63 39482 chr20 34215234 34215234 - A rs147019139 CPNE1 Frameshift insertion A402Cfs*20 0.136 0.115 0.099 62 160 44 0.159 29 13 0 1 8 39483 chr20 34218673 34218673 G C rs12481228 CPNE1 Nonsynonymous SNV P347R 0.136 0.112 0.099 61 160 43 0.156 29 13 0 1 7 29.2 39484 chr20 30414503 30414503 C T rs17340492 MYLK2 Synonymous SNV V356V 0.017 0.018 0.031 4 20 7 0.01 9 0 0 1 0 Benign 15.75 39485 chr11 71932549 71932549 A C FOLR2 Nonsynonymous SNV T171P 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 2.917 39486 chr20 30610508 30610508 A T rs140563493 CCM2L Nonsynonymous SNV I327F 0.009 0.013 0.003 4 10 5 0.01 1 0 0 0 0 28.2 39487 chr20 13752092 13752092 G T rs140974832 ESF1 Synonymous SNV R430R 0.005 0 0 0 6 0 0 0 0 0 0 0 13.12 39488 chr20 30659537 30659537 C T rs34774796 HCK Synonymous SNV S24S 0.01 0 0.007 1 12 0 0.003 2 0 0 0 0 8.63 39489 chr20 36668874 36668874 G A rs2273353 RPRD1B Synonymous SNV A63A 0.169 0.156 0.207 70 198 60 0.179 61 16 5 5 5 13.61 39490 chr3 15115478 15115478 C T rs9830744 RBSN Nonsynonymous SNV M722I 0.024 0.026 0.054 4 28 10 0.01 16 0 1 0 1 11.07 39491 chr20 34502107 34502107 G A rs17431878 PHF20 Nonsynonymous SNV V605M 0.136 0.112 0.099 55 160 43 0.141 29 15 0 1 5 14.03 39492 chr1 79093910 79093910 G A rs34932081 IFI44L Nonsynonymous SNV A104T 0.049 0.021 0.027 16 57 8 0.041 8 0 0 0 0 0.1 39493 chr3 15115723 15115723 T C rs9851219 RBSN Nonsynonymous SNV T641A 0.024 0.026 0.051 4 28 10 0.01 15 0 1 0 1 0.002 39494 chr3 15115872 15115872 A G rs9868848 RBSN Nonsynonymous SNV L591P 0.024 0.026 0.051 4 28 10 0.01 15 0 1 0 1 8.242 39495 chr1 85816134 85816134 T C rs2230820 DDAH1 Synonymous SNV A87A 0.168 0.164 0.201 61 197 63 0.156 59 10 4 8 4 8.631 39496 chr20 20033223 20033223 A T rs2273056 CRNKL1 Nonsynonymous SNV S71T 0.062 0.057 0.048 26 73 22 0.067 14 3 1 0 1 10.18 39497 chr3 15117125 15117125 G A rs2306853 RBSN Synonymous SNV A398A 0.024 0.026 0.051 4 28 10 0.01 15 0 1 0 1 17.23 39498 chr20 35060853 35060853 G A rs146757517 DLGAP4 Nonsynonymous SNV A245T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 27.3 39499 chr20 31367948 31367948 C T rs6058885 DNMT3B Synonymous SNV S9S 0.052 0.06 0.061 14 61 23 0.036 18 1 2 2 0 Benign 13.39 39500 chr11 73600167 73600167 G A rs1670560 PAAF1 Synonymous SNV R24R 0.092 0.083 0.068 31 108 32 0.079 20 6 0 1 0 1.892 39501 chr1 86590948 86590948 A G rs11161746 COL24A1 Synonymous SNV S357S 0.125 0.148 0.109 67 147 57 0.172 32 12 7 1 4 0.003 39502 chr1 8000025 8000025 G A rs1565745 TNFRSF9 Synonymous SNV A10A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 2.012 39503 chr20 36859711 36859711 G A rs1205418 KIAA1755 Synonymous SNV A588A 0.369 0.333 0.337 154 433 128 0.395 99 71 22 16 31 13.14 39504 chr20 35521264 35521264 G T rs138927042 TLDC2 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 Benign 11.57 39505 chr1 8029446 8029446 C T rs11548937 PARK7 Synonymous SNV G78G 0.022 0.013 0 5 26 5 0.013 0 0 1 0 0 Benign/Likely benign 21.2 39506 chr1 82408722 82408722 C T rs200377136 ADGRL2 Nonsynonymous SNV A156V 0.008 0.003 0 0 9 1 0 0 0 0 0 0 24.3 39507 chr3 15216429 15216429 C T rs7639618 COL6A4P1 0 0 0.139 0 0 0 0 41 0 0 1 0 16.37 39508 chr3 15216703 15216703 A T rs11718863 COL6A4P1 0 0 0.139 0 0 0 0 41 0 0 1 0 3.523 39509 chr3 152554357 152554357 A G rs701265 P2RY1 Synonymous SNV V262V 0.144 0.125 0.201 58 169 48 0.149 59 11 3 10 1 0.641 39510 chr20 368905 368905 A G rs2295490 TRIB3 Nonsynonymous SNV Q84R 0.173 0.185 0.224 44 203 71 0.113 66 24 8 11 4 5.294 39511 chr20 31531544 31531544 C T rs13045180 EFCAB8 Stop gain Q965X 0.187 0.172 0.177 64 219 66 0.164 52 19 3 2 6 17.37 39512 chr20 31590686 31590686 C A rs1133358 SUN5 Nonsynonymous SNV E39D 0.217 0.245 0.221 85 255 94 0.218 65 22 8 9 9 15.11 39513 chr20 3641542 3641542 G A rs58634535 GFRA4 Synonymous SNV L147L 0.148 0.128 0.054 63 174 49 0.162 16 31 10 1 5 0.837 39514 chr20 3641881 3641881 C T rs6084431 GFRA4 Synonymous SNV T34T 0.225 0.208 0.16 91 264 80 0.233 47 36 10 1 9 13.68 39515 chr20 31601670 31601670 C T rs45589833 BPIFB2 Synonymous SNV R121R 0.033 0.034 0.024 7 39 13 0.018 7 0 0 1 0 12.43 39516 chr20 3650205 3650205 G A rs2280090 ADAM33 Nonsynonymous SNV P748S 0.191 0.177 0.163 77 224 68 0.197 48 25 10 2 4 3.415 39517 chr20 3650234 3650234 A G rs2280091 ADAM33 Nonsynonymous SNV M738T 0.191 0.182 0.167 79 224 70 0.203 49 25 10 2 4 0.019 39518 chr20 36977970 36977970 G A rs1739654 LBP Synonymous SNV L48L 0.091 0.102 0.085 22 107 39 0.056 25 1 3 4 1 1.265 39519 chr3 154146922 154146922 A G rs34792862 GPR149 Synonymous SNV S161S 0.155 0.146 0.119 57 182 56 0.146 35 15 8 1 3 1.528 39520 chr20 36979265 36979265 T C rs2232582 LBP Synonymous SNV P97P 0.187 0.177 0.18 81 219 68 0.208 53 20 9 6 6 0.006 39521 chr20 3654433 3654433 C T rs2271511 ADAM33 Synonymous SNV G288G 0.233 0.216 0.197 96 273 83 0.246 58 38 11 6 13 8.934 39522 chr20 36982811 36982811 G A rs5744204 LBP Nonsynonymous SNV V166M 0.047 0.029 0.058 16 55 11 0.041 17 1 0 2 1 23.3 39523 chr20 36640466 36640466 G A rs41310809 TTI1 Synonymous SNV L585L 0.009 0 0 3 10 0 0.008 0 0 0 0 0 Benign 0.057 39524 chr20 3672836 3672836 G A rs910653 SIGLEC1 Synonymous SNV D1348D 0.384 0.391 0.333 161 451 150 0.413 98 85 32 17 32 0.253 39525 chr20 37002589 37002589 G A rs2232619 LBP Nonsynonymous SNV A445T 0.045 0.026 0.034 16 53 10 0.041 10 1 0 0 1 21.7 39526 chr3 15677019 15677019 G A rs34885143 BTD Nonsynonymous SNV G25R 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.521 39527 chr1 55273580 55273580 G A rs9782980 LEXM Nonsynonymous SNV G126S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.4 39528 chr1 87538744 87538744 G A rs76107418 HS2ST1 Synonymous SNV T84T 0.022 0.021 0.014 9 26 8 0.023 4 0 0 0 0 15.81 39529 chr20 3732633 3732633 C T rs541760 HSPA12B Synonymous SNV C541C 0.553 0.539 0.531 204 649 207 0.523 156 167 58 42 56 14.97 39530 chr20 37396114 37396114 A G rs111586858 ACTR5 Nonsynonymous SNV K481E 0.061 0.063 0.061 22 72 24 0.056 18 1 1 0 0 19.62 39531 chr3 157131788 157131788 A C rs1378796 VEPH1 Nonsynonymous SNV V263G 0.145 0.133 0.119 31 170 51 0.079 35 12 4 2 1 9.033 39532 chr1 55273583 55273583 T - rs761239382 LEXM S127Pfs*8 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 39533 chr20 37621052 37621052 T C rs36053162 DHX35 Nonsynonymous SNV I158T 0.041 0.049 0.044 16 48 19 0.041 13 1 0 0 1 23 39534 chr1 55273584 55273584 C A rs780935770 LEXM Nonsynonymous SNV S127Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.6 39535 chr20 17596155 17596155 C A rs1132274 RRBP1 Nonsynonymous SNV R1324L 0.112 0.102 0.126 39 132 39 0.1 37 5 3 1 2 20.8 39536 chr20 377226 377226 C T rs6115830 TRIB3 Synonymous SNV A323A 0.552 0.542 0.5 212 648 208 0.544 147 186 57 44 51 11.98 39537 chr20 3682149 3682149 G A rs13037869 SIGLEC1 Synonymous SNV S456S 0.369 0.385 0.344 155 433 148 0.397 101 77 31 16 30 7.258 39538 chr20 17602571 17602571 A G rs2229886 RRBP1 Nonsynonymous SNV C1057R 0.053 0.068 0.044 24 62 26 0.062 13 2 1 1 0 0.003 39539 chr1 55451872 55451872 G A rs3737832 TMEM61 Nonsynonymous SNV E40K 0.025 0.013 0.01 6 29 5 0.015 3 1 0 0 0 22.7 39540 chr3 158450151 158450151 C T rs7609656 RARRES1 Synonymous SNV P18P 0.129 0.13 0.19 54 151 50 0.138 56 19 6 10 4 12.2 39541 chr3 158450169 158450169 C G rs147016103 RARRES1 Nonsynonymous SNV W12C 0.129 0.13 0.201 56 152 50 0.144 59 19 6 9 5 16.59 39542 chr20 39726776 39726776 T C rs78221809 PLCG1-AS1 0.118 0.115 0.065 47 139 44 0.121 19 8 2 0 1 5.307 39543 chr3 159713215 159713215 G A rs35990253 IL12A Nonsynonymous SNV V197M 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 18.74 39544 chr20 39801200 39801200 C A rs765088189 PLCG1 Synonymous SNV G1015G 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 16.78 39545 chr20 32880242 32880242 C T rs41301825 AHCY Nonsynonymous SNV G123R 0.01 0.01 0.014 5 12 4 0.013 4 0 0 0 0 Likely benign 34 39546 chr20 4163242 4163242 C T rs28927676 SMOX Synonymous SNV F372F 0.09 0.063 0.088 27 106 24 0.069 26 6 0 2 0 13.29 39547 chr3 159744438 159744438 C T rs2914119 LINC01100 0 0 0.762 0 0 0 0 224 0 0 89 0 13.02 39548 chr11 75134811 75134811 - C rs752147763 KLHL35 Frameshift insertion L497Sfs*9 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 39549 chr20 32883237 32883237 G A AHCY Synonymous SNV A61A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.61 39550 chr3 159744440 159744440 C T rs2936301 LINC01100 0 0 0.762 0 0 0 0 224 0 0 89 0 14.9 39551 chr20 4164283 4164283 A G rs1741327 SMOX Synonymous SNV T504T 0.655 0.693 0.66 250 769 266 0.641 194 253 89 66 79 0.002 39552 chr3 159976271 159976271 C T rs16831149 TRIM59-IFT80 0.081 0.052 0.054 45 95 20 0.115 16 7 1 0 2 Benign 4.956 39553 chr3 159997061 159997061 T A rs6778728 IFT80 Nonsynonymous SNV T449S 0.203 0.188 0.248 93 238 72 0.238 73 23 5 13 11 Benign 7.442 39554 chr20 42264653 42264653 G A rs41296223 IFT52 Synonymous SNV A337A 0.049 0.057 0.02 22 57 22 0.056 6 0 1 0 1 15.15 39555 chr1 57219539 57219539 C A rs72668350 FYB2 Nonsynonymous SNV K400N 0.009 0.021 0.01 0 10 8 0 3 0 0 0 0 24.2 39556 chr3 160156318 160156318 A G rs75343910 TRIM59 Synonymous SNV Y218Y 0.013 0.008 0.01 9 15 3 0.023 3 0 0 0 1 0.074 39557 chr20 33574765 33574765 T C rs3746446 MYH7B Synonymous SNV N369N 0.261 0.323 0.241 109 306 124 0.279 71 39 19 12 14 0.086 39558 chr20 25263895 25263895 C T rs2228977 PYGB Synonymous SNV D534D 0.034 0.055 0.031 15 40 21 0.038 9 0 0 0 1 18.38 39559 chr20 36997655 36997655 C T rs2232613 LBP Nonsynonymous SNV P333L 0.028 0.034 0.037 9 33 13 0.023 11 2 0 0 0 Uncertain significance 34 39560 chr20 42743454 42743454 A G rs6093935 JPH2 Synonymous SNV F691F 0.275 0.221 0.197 109 323 85 0.279 58 48 13 3 17 Benign 1.524 39561 chr20 33586193 33586193 C T rs3746436 MYH7B Synonymous SNV S1323S 0.26 0.323 0.241 109 305 124 0.279 71 38 19 12 14 9.511 39562 chr20 18433335 18433335 T C rs41276436 DZANK1 Nonsynonymous SNV H184R 0.081 0.102 0.109 31 95 39 0.079 32 8 6 2 4 14.65 39563 chr20 42744587 42744587 G C rs74352869 JPH2 Synonymous SNV P576P 0.181 0.167 0.122 77 213 64 0.197 36 22 8 1 10 Benign 0.483 39564 chr20 25491321 25491321 A C rs182526959 NINL Nonsynonymous SNV F169C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.4 39565 chr20 33587198 33587198 G C rs3746435 MYH7B Nonsynonymous SNV K1552N 0.259 0.318 0.238 109 304 122 0.279 70 38 19 12 14 28.2 39566 chr20 37257590 37257590 C G rs6070809 ARHGAP40 Synonymous SNV G192G 0.259 0.255 0.248 116 304 98 0.297 73 37 11 12 19 10.61 39567 chr20 42815190 42815190 G A rs1883790 JPH2 Synonymous SNV Y52Y 0.851 0.831 0.864 346 999 319 0.887 254 425 131 112 155 Benign 1.018 39568 chr3 16327909 16327909 C T rs6777976 OXNAD1 Nonsynonymous SNV R100C 0.191 0.167 0.184 70 224 64 0.179 54 25 7 5 5 25.3 39569 chr20 33589107 33589107 G A rs36003887 MYH7B Synonymous SNV K1887K 0.26 0.323 0.241 109 305 124 0.279 71 38 19 12 14 5.64 39570 chr20 37377139 37377139 C T rs2254105 ACTR5 Synonymous SNV F6F 0.278 0.315 0.017 118 326 121 0.303 5 40 23 1 20 16.79 39571 chr20 43118017 43118017 G A rs36121075 TTPAL Synonymous SNV A288A 0.142 0.169 0.156 59 167 65 0.151 46 12 7 3 4 8.895 39572 chr20 37383640 37383640 T C rs2748663 ACTR5 Synonymous SNV N272N 0.288 0.328 0.303 122 338 126 0.313 89 40 23 11 20 2.517 39573 chr20 37396120 37396120 A G rs2245231 ACTR5 Nonsynonymous SNV I483V 0.434 0.477 0.435 175 509 183 0.449 128 93 47 27 40 0.088 39574 chr3 16364954 16364954 C T rs11554130 RFTN1 Nonsynonymous SNV V421I 0.173 0.154 0.184 69 203 59 0.177 54 20 6 6 4 14.33 39575 chr20 33703607 33703607 C T rs3746429 EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV A419T 0.203 0.281 0.197 92 238 108 0.236 58 21 14 9 9 1.178 39576 chr20 43378770 43378770 A G rs1111032 KCNK15 Nonsynonymous SNV E95G 0.412 0.409 0.412 157 484 157 0.403 121 91 30 32 26 7.175 39577 chr20 2796007 2796007 G A rs12625619 C20orf141 Synonymous SNV L59L 0.098 0.104 0.102 39 115 40 0.1 30 7 2 1 0 2.482 39578 chr20 43379264 43379264 A C rs6073538 KCNK15 Nonsynonymous SNV T260P 0.382 0.365 0.459 146 449 140 0.374 135 91 30 34 26 0.024 39579 chr20 3784110 3784110 C T rs1056720 CDC25B Synonymous SNV I280I 0.271 0.292 0.238 92 318 112 0.236 70 40 13 9 15 16.88 39580 chr20 3838441 3838441 C G rs17857295 MAVS Nonsynonymous SNV Q93E 0.29 0.284 0.269 114 341 109 0.292 79 56 15 10 15 13.1 39581 chr1 86942216 86942216 T G CLCA1 Nonsynonymous SNV N179K 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.024 39582 chr20 43379454 43379454 T C rs13042905 KCNK15 Nonsynonymous SNV L323P 0.391 0.38 0.446 153 459 146 0.392 131 93 30 34 26 10.63 39583 chr3 167023738 167023738 G C rs13096767 ZBBX Nonsynonymous SNV A473G 0.094 0.122 0.367 46 110 47 0.118 108 46 20 20 17 13.45 39584 chr20 3844929 3844929 C T rs45437096 MAVS Nonsynonymous SNV R77C 0.206 0.214 0.187 75 242 82 0.192 55 23 8 6 5 22.9 39585 chr1 86961296 86961296 C T CLCA1 Nonsynonymous SNV A684V 0.006 0 0 4 7 0 0.01 0 0 0 0 0 5.218 39586 chr20 34057799 34057799 A G rs41290918 CEP250 Synonymous SNV T312T 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 1.806 39587 chr1 874734 874734 C T rs145967298 SAMD11 Synonymous SNV S200S 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 11.95 39588 chr20 30433324 30433324 C T rs142596973 FOXS1 Nonsynonymous SNV G8R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.8 39589 chr3 168538993 168538993 A G rs603638 EGFEM1P 0 0 0.721 0 0 0 0 212 0 0 72 0 4.542 39590 chr3 168546914 168546914 C T rs678690 EGFEM1P 0 0 0.456 0 0 0 0 134 0 0 28 0 16.11 39591 chr20 30452782 30452782 C T rs4911536 DUSP15 Synonymous SNV P51P 0.256 0.271 0.32 118 301 104 0.303 94 36 15 20 13 17.39 39592 chr20 30513702 30513702 C T rs61745444 TTLL9 Synonymous SNV Y131Y 0.154 0.185 0.122 75 181 71 0.192 36 12 8 3 3 21.8 39593 chr3 17051328 17051328 T C rs7653834 PLCL2 Synonymous SNV L38L 0.414 0.383 0.432 170 486 147 0.436 127 105 27 24 36 0.002 39594 chr3 17053499 17053499 A G rs4602367 PLCL2 Synonymous SNV G761G 0.572 0.505 0.541 230 672 194 0.59 159 197 50 41 66 8.595 39595 chr20 35060149 35060149 G A rs35694596 DLGAP4 Nonsynonymous SNV R10H 0.029 0.018 0.014 11 34 7 0.028 4 0 1 0 0 20.5 39596 chr1 883918 883918 G A rs139116730 NOC2L Synonymous SNV S503S 0.009 0.003 0.014 4 10 1 0.01 4 0 0 0 0 13.78 39597 chr20 35060186 35060186 C T rs62210512 DLGAP4 Synonymous SNV P22P 0.029 0.018 0.014 11 34 7 0.028 4 0 1 0 0 11.44 39598 chr20 30918103 30918103 A C KIF3B Nonsynonymous SNV N710H 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 14.58 39599 chr20 35414905 35414905 G T rs73109216 SOGA1 Nonsynonymous SNV L1657I 0.089 0.128 0.078 48 104 49 0.123 23 4 5 1 4 9.264 39600 chr3 17208267 17208267 T C rs1138454 TBC1D5 Nonsynonymous SNV I560V 0.388 0.372 0.412 140 456 143 0.359 121 79 24 28 23 0.001 39601 chr20 39995111 39995111 T G rs192531993 EMILIN3 Nonsynonymous SNV H55P 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 22.8 39602 chr20 44184498 44184498 A G rs2272955 WFDC8 Nonsynonymous SNV M96T 0.079 0.081 0.078 29 93 31 0.074 23 3 1 3 0 0.001 39603 chr20 40714479 40714479 G A rs2016647 PTPRT Synonymous SNV Y1287Y 0.28 0.268 0.248 109 329 103 0.279 73 46 17 11 21 5.83 39604 chr20 35506403 35506403 G A rs199821285 TLDC2 Synonymous SNV T45T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.961 39605 chr20 35507542 35507542 G A rs3748459 TLDC2 Synonymous SNV R96R 0.331 0.354 0.299 147 389 136 0.377 88 59 15 10 28 10.53 39606 chr20 4163091 4163091 T C rs199631589 SMOX Nonsynonymous SNV L322P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.3 39607 chr3 172365832 172365832 T G rs2302815 NCEH1 Nonsynonymous SNV K71Q 0.096 0.086 0.129 40 113 33 0.103 38 3 4 3 2 14.02 39608 chr11 77815059 77815059 A G rs17825668 ALG8 Nonsynonymous SNV I439T 0.035 0.036 0.031 31 41 14 0.079 9 2 0 1 0 Benign/Likely benign 18.16 39609 chr1 62579891 62579891 G T rs12140153 PATJ Nonsynonymous SNV G1543V 0.028 0.031 0.034 9 33 12 0.023 10 0 0 0 0 29.4 39610 chr20 44417643 44417643 A G rs6032537 WFDC3 Synonymous SNV G46G 0.654 0.643 0.656 250 768 247 0.641 193 247 79 62 83 0.005 39611 chr20 44417675 44417675 G C rs6032538 WFDC3 Nonsynonymous SNV H36D 0.654 0.641 0.656 250 768 246 0.641 193 247 78 62 83 0.012 39612 chr20 44418564 44418564 A G rs3746493 WFDC3 Synonymous SNV S17S 0.578 0.578 0.578 218 679 222 0.559 170 197 60 49 58 4.35 39613 chr20 20033322 20033322 G A rs74404969 CRNKL1 Stop gain Q38X 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 27.1 39614 chr20 44452697 44452697 C A rs4629 TNNC2 Synonymous SNV T128T 0.503 0.495 0.49 181 591 190 0.464 144 149 46 33 42 22.5 39615 chr3 177347291 177347291 G A rs9841093 LINC00578 0 0 0.833 0 0 0 0 245 0 0 102 0 2.08 39616 chr20 44469290 44469290 G A rs4638862 SNX21 Nonsynonymous SNV A154T 0.511 0.495 0.5 175 600 190 0.449 147 143 45 34 39 17.83 39617 chr20 42825929 42825929 C T rs8268 OSER1 Synonymous SNV V214V 0.157 0.13 0.177 59 184 50 0.151 52 11 3 8 4 8.554 39618 chr20 42826350 42826350 A C rs9346 OSER1 Nonsynonymous SNV V74G 0.165 0.138 0.18 62 194 53 0.159 53 10 3 8 4 20.5 39619 chr20 44470676 44470676 T C rs3848713 SNX21 Synonymous SNV S198S 0.565 0.547 0.548 196 663 210 0.503 161 177 55 46 48 1.478 39620 chr20 44505973 44505973 T C rs2903808 ZSWIM3 Nonsynonymous SNV V259A 0.574 0.565 0.602 206 674 217 0.528 177 186 60 56 53 0.074 39621 chr20 42826379 42826379 C T rs11274 OSER1 Synonymous SNV G64G 0.162 0.141 0.184 64 190 54 0.164 54 10 4 8 4 11.36 39622 chr1 9165669 9165669 G A rs12075362 GPR157 Nonsynonymous SNV A223V 0.069 0.076 0.054 24 81 29 0.062 16 1 1 0 0 23.1 39623 chr3 179294509 179294509 T A rs34630517 ACTL6A Nonsynonymous SNV S225T 0.021 0.016 0.034 6 25 6 0.015 10 0 0 0 0 25.1 39624 chr20 44506418 44506418 G A rs1045493 ZSWIM3 Synonymous SNV R407R 0.526 0.531 0.541 190 618 204 0.487 159 155 53 44 47 3.418 39625 chr20 36627641 36627641 G A rs144223062 TTI1 Synonymous SNV L914L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.56 39626 chr20 20232356 20232356 C T rs56102210 CFAP61 Synonymous SNV D759D 0.117 0.091 0.136 41 137 35 0.105 40 6 1 0 3 8.326 39627 chr20 44511627 44511627 C T rs11086984 ZSWIM1 Synonymous SNV F132F 0.12 0.141 0.112 43 141 54 0.11 33 3 6 0 1 9.289 39628 chr3 182165763 182165763 C G rs59848502 LINC01994 0 0 0.313 0 0 0 0 92 0 0 21 0 3.092 39629 chr20 44520238 44520240 CTG - rs397784956 CTSA L19del 0.594 0.568 0.599 208 697 218 0.533 176 198 61 58 56 39630 chr3 182614493 182614493 T C rs4859142 ATP11B Synonymous SNV F996F 0.083 0.076 0.048 19 97 29 0.049 14 3 1 0 2 6.768 39631 chr20 20484043 20484043 A G rs2273528 RALGAPA2 Synonymous SNV H1720H 0.028 0.031 0.054 14 33 12 0.036 16 1 0 0 0 1.586 39632 chr20 43547677 43547677 T G rs2075960 PABPC1L Nonsynonymous SNV S212A 0.218 0.227 0.201 94 256 87 0.241 59 21 9 7 10 12.9 39633 chr20 43566787 43566787 A G rs11780 PABPC1L Synonymous SNV S582S 0.306 0.318 0.344 148 359 122 0.379 101 46 19 18 26 8.74 39634 chr20 3171337 3171337 C T rs11591 DDRGK1 Nonsynonymous SNV A303T 0.172 0.148 0.194 92 202 57 0.236 57 21 6 8 11 16.05 39635 chr20 43739119 43739119 G A rs17422688 WFDC5 Nonsynonymous SNV H97Y 0.119 0.135 0.133 54 140 52 0.138 39 10 1 3 1 20.6 39636 chr20 45192183 45192183 C T rs540486781 SLC13A3 Nonsynonymous SNV R451H 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 25.7 39637 chr20 31958390 31958390 G A rs199766779 CDK5RAP1 Nonsynonymous SNV T359M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 28.9 39638 chr20 43803613 43803613 C T rs17333103 PI3 Nonsynonymous SNV T17M 0.161 0.164 0.177 72 189 63 0.185 52 16 3 6 3 0.39 39639 chr20 36842086 36842086 G A rs112401596 KIAA1755 Synonymous SNV T638T 0.02 0.023 0.017 15 24 9 0.038 5 0 0 0 0 0.909 39640 chr1 63064445 63064445 C T rs370511181 ANGPTL3 Stop gain Q192X 0.008 0.005 0 0 9 2 0 0 0 0 0 0 37 39641 chr20 43804522 43804522 A C rs2664581 PI3 Nonsynonymous SNV T34P 0.16 0.164 0.187 74 188 63 0.19 55 16 3 6 3 0.008 39642 chr20 46251038 46251038 G A NCOA3 Nonsynonymous SNV R16Q 0.004 0.005 0 1 5 2 0.003 0 0 1 0 0 31 39643 chr3 183528147 183528147 G T rs899953019 YEATS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.28 39644 chr3 183660585 183660585 G A rs3749442 ABCC5 Synonymous SNV L736L 0.147 0.148 0.177 80 173 57 0.205 52 9 4 5 11 13.05 39645 chr11 82535963 82535963 C T rs4759 PRCP Synonymous SNV A387A 0.086 0.099 0.119 32 101 38 0.082 35 2 1 2 1 11.38 39646 chr20 43836173 43836173 T A rs2301366 SEMG1 Nonsynonymous SNV S79T 0.177 0.19 0.204 79 208 73 0.203 60 21 6 7 4 0.001 39647 chr20 3210301 3210301 G A rs41281860 SLC4A11 Synonymous SNV N499N 0.141 0.125 0.163 69 166 48 0.177 48 11 3 6 6 Benign 10.27 39648 chr11 82625814 82625814 G A rs61902276 DDIAS Nonsynonymous SNV V12I 0.04 0.044 0.024 12 47 17 0.031 7 0 0 0 0 24 39649 chr20 3211235 3211235 C T rs6084312 SLC4A11 Synonymous SNV T409T 0.141 0.13 0.153 74 165 50 0.19 45 12 5 5 6 Benign 10.54 39650 chr20 43850400 43850400 C A rs2233896 SEMG2 Nonsynonymous SNV Q43K 0.156 0.161 0.173 74 183 62 0.19 51 15 2 6 2 9.822 39651 chr3 183753777 183753777 G A rs36092077 HTR3D Nonsynonymous SNV R90Q 0.138 0.128 0.177 73 162 49 0.187 52 7 3 5 8 7.004 39652 chr20 4680217 4680217 A G rs8124214 PRNP Synonymous SNV A117A 0.029 0.018 0.017 15 34 7 0.038 5 1 0 0 1 Benign 0.05 39653 chr20 4680251 4680251 A G rs1799990 PRNP Nonsynonymous SNV M129V 0.31 0.286 0.272 124 364 110 0.318 80 63 17 11 12 Benign 9.896 39654 chr20 43850525 43850525 A G rs2233898 SEMG2 Synonymous SNV Q84Q 0.156 0.161 0.173 74 183 62 0.19 51 15 2 6 2 0.024 39655 chr20 3218563 3218563 T C rs79057061 SLC4A11 Nonsynonymous SNV R50G 0.117 0.102 0.133 51 137 39 0.131 39 5 3 3 5 12.87 39656 chr20 43851094 43851094 G A rs2233901 SEMG2 Nonsynonymous SNV S274N 0.162 0.167 0.177 74 190 64 0.19 52 18 4 6 2 0.002 39657 chr20 4705718 4705718 C T rs2245220 PRND Nonsynonymous SNV T174M 0.522 0.534 0.537 219 613 205 0.562 158 167 55 45 68 10.51 39658 chr20 47253043 47253043 G A rs11553083 PREX1 Synonymous SNV G1375G 0.078 0.07 0.099 33 91 27 0.085 29 3 1 0 1 14.58 39659 chr1 92647636 92647636 T G rs17578364 KIAA1107 Nonsynonymous SNV F953V 0.055 0.034 0.027 13 64 13 0.033 8 0 1 0 0 4.63 39660 chr20 43933196 43933196 C T rs2233093 MATN4 Synonymous SNV V105V 0.226 0.247 0.262 99 265 95 0.254 77 31 11 13 14 11.49 39661 chr20 43944958 43944958 G T rs2741500 RBPJL Synonymous SNV P384P 0.218 0.245 0.255 97 256 94 0.249 75 28 10 13 12 12.26 39662 chr20 47253196 47253196 G A rs116671299 PREX1 Synonymous SNV D1324D 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 Likely benign 9.786 39663 chr20 47307618 47307618 G A rs3746820 PREX1 Synonymous SNV N351N 0.162 0.167 0.187 50 190 64 0.128 55 13 4 6 3 0.294 39664 chr20 36989391 36989391 G A rs2232597 LBP Nonsynonymous SNV D208N 0.012 0.01 0.007 4 14 4 0.01 2 0 0 0 0 Benign 2.55 39665 chr20 37001761 37001761 T C rs2232618 LBP Nonsynonymous SNV F436L 0.107 0.117 0.065 45 126 45 0.115 19 7 1 0 1 0.005 39666 chr20 47775685 47775685 - A rs568311635 STAU1 0.083 0.07 0.048 37 98 27 0.095 14 11 5 0 6 39667 chr20 37177423 37177423 A G rs805548 RALGAPB Synonymous SNV A998A 0.016 0.023 0.051 4 19 9 0.01 15 0 0 2 0 10.28 39668 chr11 56756532 56756532 C A rs148801130 OR5AK2 Synonymous SNV L48L 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 10.13 39669 chr3 183976103 183976103 C T rs11546878 EEF1AKMT4 Nonsynonymous SNV R170W 0.156 0.151 0.092 70 183 58 0.179 27 17 3 0 3 17.57 39670 chr20 2384129 2384129 C T rs201024326 TGM6 Nonsynonymous SNV P359L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 39671 chr20 32883308 32883308 G A rs13043752 AHCY Nonsynonymous SNV R38W 0.025 0.023 0.02 12 29 9 0.031 6 1 0 0 0 Benign 25.1 39672 chr3 184025306 184025306 G A rs11545175 PSMD2 Synonymous SNV V602V 0.017 0.018 0.003 14 20 7 0.036 1 0 0 0 1 9.757 39673 chr1 9324287 9324287 G A rs754833034 H6PD Nonsynonymous SNV V590M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.7 39674 chr20 48129706 48129706 G T rs5629 PTGIS Synonymous SNV R373R 0.314 0.336 0.211 142 369 129 0.364 62 62 19 8 25 12.97 39675 chr20 44259549 44259549 G A rs2272961 WFDC10A Synonymous SNV Q44Q 0.096 0.073 0.119 45 113 28 0.115 35 4 0 2 3 0.12 39676 chr20 48252914 48252914 C T rs235035 B4GALT5 Nonsynonymous SNV D368N 0.195 0.193 0.122 75 229 74 0.192 36 23 4 2 9 22.5 39677 chr1 909221 909221 T C rs62639985 PLEKHN1 Synonymous SNV S446S 0.033 0.026 0.017 6 39 10 0.015 5 2 0 0 0 0.03 39678 chr20 24952147 24952147 G A rs78661674 APMAP Nonsynonymous SNV L163F 0.045 0.065 0.082 16 53 25 0.041 24 1 0 2 0 27.4 39679 chr3 184289152 184289152 A G rs13069661 EPHB3 Synonymous SNV T55T 0.142 0.159 0.163 55 167 61 0.141 48 15 6 6 4 7.218 39680 chr1 6636622 6636622 A G rs140284805 TAS1R1 Nonsynonymous SNV T216A 0 0.005 0 0 0 2 0 0 0 0 0 0 1.219 39681 chr3 184299068 184299068 G A rs9881589 EPHB3 Synonymous SNV T920T 0.223 0.188 0.231 88 262 72 0.226 68 32 6 5 10 6.552 39682 chr20 48466166 48466166 G A rs6012755 SLC9A8 Synonymous SNV G161G 0.096 0.081 0.136 35 113 31 0.09 40 3 0 0 2 6.614 39683 chr11 57310678 57310678 A G rs148797889 SMTNL1 Nonsynonymous SNV E188G 0.005 0.01 0.003 3 6 4 0.008 1 0 0 0 0 5.52 39684 chr20 39974584 39974584 C G rs41277014 LPIN3 Synonymous SNV P47P 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 12.99 39685 chr20 39980730 39980730 T C LPIN3 Synonymous SNV S412S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.023 39686 chr20 40162062 40162062 G C rs61753666 CHD6 Nonsynonymous SNV L61V 0.018 0.01 0 4 21 4 0.01 0 0 0 0 0 0.104 39687 chr20 33714162 33714162 G C EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV I250M 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.6 39688 chr20 48894756 48894756 C T rs3088220 SMIM25 Nonsynonymous SNV L78F 0.386 0.372 0.272 140 453 143 0.359 80 88 30 17 23 5.174 39689 chr20 33834708 33834708 G A rs3764733 MMP24 Synonymous SNV A104A 0.248 0.299 0.238 101 291 115 0.259 70 35 10 8 9 14.63 39690 chr20 49195061 49195061 A G rs2230605 PTPN1 Synonymous SNV R126R 0.027 0.042 0.017 12 32 16 0.031 5 0 3 0 0 9.695 39691 chr3 184801094 184801094 G A rs61740263 C3orf70 Nonsynonymous SNV P152S 0.058 0.036 0.058 23 68 14 0.059 17 1 0 2 1 8.31 39692 chr20 49214156 49214156 A G rs6020624 RIPOR3 Nonsynonymous SNV L584P 0.751 0.734 0.704 265 882 282 0.679 207 334 102 76 90 1.704 39693 chr20 44582435 44582435 G T rs41280276 ZNF335 Nonsynonymous SNV D865E 0.047 0.031 0.044 14 55 12 0.036 13 1 0 0 0 Likely benign 0.899 39694 chr20 42198115 42198115 G A rs746625692 SGK2 Nonsynonymous SNV E167K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 39695 chr20 49214198 49214198 C G rs35965508 RIPOR3 Nonsynonymous SNV C570S 0.021 0.031 0.01 10 25 12 0.026 3 0 3 0 0 0.012 39696 chr20 2636035 2636035 C A NOP56 Nonsynonymous SNV R212S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 39697 chr20 4228735 4228735 C T rs35105284 ADRA1D Synonymous SNV A290A 0.258 0.266 0.228 109 303 102 0.279 67 27 11 9 11 15 39698 chr1 67450431 67450431 A G rs17129563 MIER1 Nonsynonymous SNV R463G 0.014 0.031 0.027 9 17 12 0.023 8 0 0 0 0 23.4 39699 chr20 49214215 49214215 G A rs148727951 RIPOR3 Synonymous SNV A564A 0.02 0.026 0.01 9 23 10 0.023 3 0 2 0 0 9.564 39700 chr20 44596545 44596545 G A rs3848719 ZNF335 Synonymous SNV S214S 0.434 0.458 0.439 153 509 176 0.392 129 101 41 28 31 Benign 8.834 39701 chr20 44640225 44640225 A G rs17576 MMP9 Nonsynonymous SNV Q279R 0.326 0.341 0.269 135 383 131 0.346 79 61 21 13 21 Benign 16.53 39702 chr3 185431172 185431172 C T rs55701287 IGF2BP2-AS1 0 0 0.061 0 0 0 0 18 0 0 1 0 13.05 39703 chr3 185431197 185431197 C T rs80061571 IGF2BP2-AS1 0 0 0.037 0 0 0 0 11 0 0 0 0 7.058 39704 chr20 50406985 50406985 G A rs13043248 SALL4 Synonymous SNV T679T 0.095 0.073 0.078 47 111 28 0.121 23 4 1 0 4 Benign 0.18 39705 chr20 44643111 44643111 G A rs17577 MMP9 Nonsynonymous SNV R668Q 0.144 0.146 0.102 74 169 56 0.19 30 9 5 1 7 Benign 10.94 39706 chr20 50407966 50407966 C T rs13038893 SALL4 Synonymous SNV A352A 0.319 0.258 0.259 115 374 99 0.295 76 61 12 7 19 Benign 6.216 39707 chr20 29960787 29960787 C T rs34247288 DEFB118 Synonymous SNV H62H 0.016 0.018 0.014 7 19 7 0.018 4 1 0 0 0 4.547 39708 chr20 44644965 44644965 G A rs13925 MMP9 Synonymous SNV V694V 0.146 0.146 0.102 74 171 56 0.19 30 9 5 1 7 Benign 6.207 39709 chr20 428553 428553 T C rs36088178 TBC1D20 Nonsynonymous SNV N79S 0.035 0.021 0.014 10 41 8 0.026 4 0 0 0 0 Benign 0.003 39710 chr20 5086939 5086939 A T rs6116651 TMEM230 Synonymous SNV P39P 0.112 0.164 0.099 60 131 63 0.154 29 9 4 0 7 0.364 39711 chr20 52198340 52198340 T A rs16998248 ZNF217 Synonymous SNV A342A 0.056 0.078 0.051 30 66 30 0.077 15 4 0 1 2 5.737 39712 chr3 186358346 186358346 T C rs34522046 FETUB Nonsynonymous SNV S33P 0.02 0.023 0.017 8 24 9 0.021 5 0 0 0 0 0.001 39713 chr20 52198967 52198967 A G rs1326862 ZNF217 Synonymous SNV C133C 0.025 0.029 0.024 10 29 11 0.026 7 2 0 0 1 0.013 39714 chr1 74507450 74507450 G C rs78657023 LRRIQ3 Nonsynonymous SNV H389D 0.014 0.013 0.003 1 17 5 0.003 1 0 0 0 0 0.962 39715 chr20 43374840 43374840 C - rs3834659 KCNK15-AS1 0.209 0.182 0.092 66 245 70 0.169 27 37 11 7 7 39716 chr20 30407387 30407387 G A rs117502839 MYLK2 Nonsynonymous SNV A2T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 39717 chr3 186370350 186370350 A G rs7999 FETUB Nonsynonymous SNV K295R 0.065 0.047 0.075 14 76 18 0.036 22 5 1 2 0 0.002 39718 chr20 46264888 46264888 G C rs2230782 NCOA3 Nonsynonymous SNV Q586H 0.087 0.102 0.071 31 102 39 0.079 21 5 1 2 1 22.3 39719 chr3 186390627 186390627 C T rs9898 HRG Nonsynonymous SNV P204S 0.352 0.331 0.425 136 413 127 0.349 125 83 23 31 19 3.461 39720 chr20 30433126 30433126 C T rs45499294 FOXS1 Nonsynonymous SNV E74K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 39721 chr20 5283256 5283256 C G rs3746682 PROKR2 Synonymous SNV T195T 0.82 0.797 0.745 321 963 306 0.823 219 392 123 82 133 Benign 8.441 39722 chr3 186395113 186395113 A G rs2228243 HRG Nonsynonymous SNV H340R 0.19 0.182 0.207 78 223 70 0.2 61 21 5 5 7 0.006 39723 chr20 5283316 5283316 G C rs3746683 PROKR2 Synonymous SNV A175A 0.171 0.185 0.139 77 201 71 0.197 41 17 6 2 6 Benign 0.154 39724 chr20 46365636 46365636 C T rs56218501 SULF2 Nonsynonymous SNV A76T 0.239 0.25 0.207 85 281 96 0.218 61 31 13 5 7 19.85 39725 chr1 979556 979556 G A rs139886237 AGRN Synonymous SNV Q689Q 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 Benign/Likely benign 5.207 39726 chr20 5283376 5283376 G A rs3746684 PROKR2 Synonymous SNV L155L 0.387 0.362 0.364 159 454 139 0.408 107 88 22 16 37 Benign 0.105 39727 chr20 4705274 4705274 C T rs41279424 PRND Nonsynonymous SNV T26M 0.037 0.031 0.034 10 43 12 0.026 10 0 0 0 0 21.9 39728 chr20 30513735 30513735 C T rs4911195 TTLL9 Synonymous SNV R142R 0.125 0.117 0.136 50 147 45 0.128 40 10 1 5 0 18.55 39729 chr3 186440243 186440243 G A rs1469859 KNG1 Synonymous SNV T108T 0.345 0.38 0.35 141 405 146 0.362 103 83 35 18 23 8.237 39730 chr1 93602364 93602364 G A rs141738080 MTF2 Nonsynonymous SNV G419D 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 17.25 39731 chr20 55967915 55967915 C G rs76198019 LOC100291105 0.034 0.029 0.017 14 40 11 0.036 5 0 0 0 0 3.208 39732 chr20 306850 306850 G A rs780154689 SOX12 Synonymous SNV E94E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 39733 chr20 56071399 56071399 C T rs62204254 CTCFL Synonymous SNV R670R 0.342 0.385 0.252 129 402 148 0.331 74 79 29 17 20 3.276 39734 chr20 30720918 30720918 G A rs747837483 TM9SF4 Nonsynonymous SNV V23I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 39735 chr11 94278944 94278944 G T rs541825961 LOC105369438 0.004 0 0 5 5 0 0.013 0 0 0 0 0 3.421 39736 chr20 56071416 56071416 C A rs62204255 CTCFL Nonsynonymous SNV A665S 0.117 0.143 0.048 37 137 55 0.095 14 10 1 1 3 0.004 39737 chr3 186572642 186572642 G A rs1501298 ADIPOQ-AS1 0 0 0.983 0 0 0 0 289 0 0 144 0 4.903 39738 chr3 186915296 186915296 T A rs200695573 LOC101929106 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.89 39739 chr20 56099114 56099114 C G rs6070128 CTCFL Nonsynonymous SNV E50Q 0.462 0.469 0.442 180 542 180 0.462 130 129 46 26 44 0.024 39740 chr1 75039125 75039125 T C rs148986005 ERICH3 Nonsynonymous SNV K757E 0.004 0.01 0.007 2 5 4 0.005 2 0 0 0 0 0.069 39741 chr1 99753631 99753631 G A rs35121076 PLPPR4 Synonymous SNV P111P 0.04 0.039 0.054 12 47 15 0.031 16 0 1 0 0 13.47 39742 chr1 93676478 93676478 A C rs76148185 CCDC18 Nonsynonymous SNV E443D 0.008 0.018 0.014 6 9 7 0.015 4 0 0 0 1 12.58 39743 chr3 186953808 186953808 C T rs850312 MASP1 Synonymous SNV L617L 0.362 0.346 0.35 163 425 133 0.418 103 77 20 18 35 3.806 39744 chr20 3147531 3147531 G A rs148904176 LZTS3 Synonymous SNV L93L 0.01 0.01 0.01 5 12 4 0.013 3 0 0 0 0 6.522 39745 chr3 187009061 187009061 C T rs560180939 LOC101929130 0 0 0.003 0 0 0 0 1 0 0 0 0 9.699 39746 chr20 36767986 36767986 C T rs2229470 TGM2 Synonymous SNV A309A 0.023 0.016 0.01 6 27 6 0.015 3 0 0 0 0 Benign 13.38 39747 chr3 187088812 187088812 C T rs3821812 RTP4 Nonsynonymous SNV T131M 0.3 0.336 0.306 143 352 129 0.367 90 49 23 15 29 0.006 39748 chr20 36770588 36770588 C T rs2076390 TGM2 Synonymous SNV L210L 0.147 0.128 0.126 68 172 49 0.174 37 16 4 3 8 11.42 39749 chr11 59224553 59224553 G A OR4D6 Synonymous SNV L40L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.903 39750 chr20 47351095 47351095 G A rs6122720 PREX1 Synonymous SNV R169R 0.126 0.096 0.092 64 148 37 0.164 27 10 0 0 6 7.215 39751 chr3 187088903 187088903 C A rs1533595 RTP4 Synonymous SNV I161I 0.3 0.336 0.306 143 352 129 0.367 90 49 23 15 29 10.77 39752 chr20 10653466 10653466 C A rs114048678 JAG1 Synonymous SNV G90G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 12.36 39753 chr20 47630449 47630449 C T rs2281582 ARFGEF2 Synonymous SNV I1377I 0.119 0.13 0.143 59 140 50 0.151 42 6 4 4 2 Benign 13.51 39754 chr20 56227514 56227514 T C rs6025698 PMEPA1 Synonymous SNV S125S 0.14 0.141 0.143 50 164 54 0.128 42 12 3 3 3 0.011 39755 chr3 187089031 187089031 C A rs1003995 RTP4 Nonsynonymous SNV A204D 0.296 0.333 0.296 142 347 128 0.364 87 49 23 14 29 23 39756 chr20 11903654 11903654 G A rs35364034 BTBD3 Synonymous SNV A152A 0.078 0.091 0.054 33 91 35 0.085 16 5 0 1 0 5.951 39757 chr3 187420218 187420218 C T rs2293244 LOC100131635 0 0 0.112 0 0 0 0 33 0 0 3 0 6.257 39758 chr3 187446211 187446211 C T rs2229362 BCL6 Nonsynonymous SNV A493T 0.15 0.141 0.126 73 176 54 0.187 37 21 2 3 6 not provided 6.324 39759 chr20 44141331 44141331 A G rs6032259 SPINT3 Nonsynonymous SNV L77S 0.533 0.542 0.544 194 626 208 0.497 160 167 52 40 49 0.002 39760 chr11 100558681 100558681 A G rs77786711 LOC100128386 0.02 0.016 0.02 9 24 6 0.023 6 5 2 0 0 16.1 39761 chr20 44184375 44184375 T C rs2250860 WFDC8 Nonsynonymous SNV N137S 0.408 0.422 0.367 148 479 162 0.379 108 104 34 16 27 0.001 39762 chr3 187897059 187897059 G A rs13096615 FLJ42393 0 0 0.503 0 0 0 0 148 0 0 34 0 0.037 39763 chr20 57266134 57266134 G A rs6015338 STX16-NPEPL1 0.139 0.177 0.143 57 163 68 0.146 42 15 5 1 1 4.018 39764 chr3 187897424 187897424 A C rs4577458 FLJ42393 0 0 0.378 0 0 0 0 111 0 0 20 0 5.488 39765 chr1 76878097 76878097 G A rs17098940 ST6GALNAC3 Synonymous SNV K141K 0.01 0.016 0 0 12 6 0 0 0 0 0 0 11.89 39766 chr20 1293107 1293107 G A rs55655566 SDCBP2 Synonymous SNV H117H 0.014 0.008 0.02 9 16 3 0.023 6 0 0 1 0 4.704 39767 chr20 36869207 36869207 C T rs140948739 KIAA1755 Synonymous SNV K442K 0.009 0.005 0 8 10 2 0.021 0 0 0 0 0 10.52 39768 chr20 48140682 48140682 C T rs5628 PTGIS Synonymous SNV L256L 0.086 0.076 0.068 31 101 29 0.079 20 4 2 0 1 10.44 39769 chr3 191075902 191075902 C T rs11542549 CCDC50 Synonymous SNV R76R 0.273 0.253 0.272 87 321 97 0.223 80 39 13 8 8 Benign 14.53 39770 chr20 36939052 36939052 G C rs5743507 BPI Synonymous SNV V182V 0.076 0.065 0.092 30 89 25 0.077 27 4 0 1 1 Benign 6.318 39771 chr1 97235290 97235290 A G rs139414147 PTBP2 Synonymous SNV G49G 0.009 0.003 0.003 5 10 1 0.013 1 0 0 0 0 Benign 8.124 39772 chr20 5903388 5903388 A C rs881118 CHGB Nonsynonymous SNV N200H 0.058 0.055 0.061 18 68 21 0.046 18 5 0 2 0 5.948 39773 chr3 19190241 19190241 G C rs34370450 KCNH8 Synonymous SNV P10P 0.143 0.159 0.095 54 168 61 0.138 28 15 6 2 2 15.19 39774 chr3 193031875 193031875 C T rs78188075 ATP13A5 Nonsynonymous SNV A756T 0.053 0.068 0.065 21 62 26 0.054 19 2 0 1 1 34 39775 chr20 3732265 3732265 G T rs13433190 HSPA12B Nonsynonymous SNV A419S 0.044 0.029 0.044 5 52 11 0.013 13 2 0 0 0 7.656 39776 chr1 979748 979748 A T rs113288277 AGRN Nonsynonymous SNV E728V 0.043 0.039 0.044 15 51 15 0.038 13 2 0 0 0 Benign 25.9 39777 chr20 4864419 4864419 G A rs34568477 SLC23A2 Synonymous SNV L231L 0.024 0.023 0.017 18 28 9 0.046 5 0 0 0 0 8.505 39778 chr1 9804693 9804693 C T rs7550295 CLSTN1 Nonsynonymous SNV A322T 0.046 0.06 0.041 10 54 23 0.026 12 2 1 0 0 5.973 39779 chr20 1532599 1532599 T C rs147009215 SIRPD Synonymous SNV V53V 0.005 0.005 0.003 7 6 2 0.018 1 0 0 0 0 8.482 39780 chr20 5904028 5904028 C T rs742710 CHGB Nonsynonymous SNV P413L 0.059 0.055 0.065 19 69 21 0.049 19 5 0 2 0 0.927 39781 chr11 102565820 102565820 C A rs35616217 MMP27 Nonsynonymous SNV W304L 0.012 0.016 0 4 14 6 0.01 0 0 0 0 0 26.6 39782 chr20 44680493 44680493 G A rs17344810 SLC12A5 Synonymous SNV T810T 0.117 0.109 0.088 45 137 42 0.115 26 3 3 1 2 13.85 39783 chr20 32232296 32232296 C T rs45563732 CBFA2T2 Synonymous SNV H544H 0.032 0.018 0.027 17 38 7 0.044 8 0 0 0 0 10.57 39784 chr20 45169957 45169957 C T rs41283036 OCSTAMP Nonsynonymous SNV V553M 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 16.09 39785 chr20 6033025 6033025 T C rs1884643 LRRN4 Nonsynonymous SNV T141A 0.194 0.198 0.228 87 228 76 0.223 67 41 15 8 13 0.001 39786 chr20 37667182 37667182 C T rs3752302 DHX35 Nonsynonymous SNV P672L 0.12 0.125 0.119 50 141 48 0.128 35 8 0 3 2 25.5 39787 chr3 194062380 194062380 G A rs375711355 CPN2 Nonsynonymous SNV A351V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.616 39788 chr20 50407162 50407162 T C rs6021437 SALL4 Synonymous SNV T620T 0.399 0.424 0.422 170 468 163 0.436 124 95 39 28 36 Benign 0.009 39789 chr20 45242269 45242269 G C rs2273024 SLC13A3 Synonymous SNV L69L 0.415 0.354 0.418 150 487 136 0.385 123 99 24 28 20 9.667 39790 chr20 60503350 60503350 A G rs6142884 CDH4 Nonsynonymous SNV K588R 0.541 0.523 0.493 213 635 201 0.546 145 160 55 39 51 0.002 39791 chr20 50407502 50407502 A C rs6126344 SALL4 Nonsynonymous SNV L507R 0.398 0.424 0.422 170 467 163 0.436 124 95 39 28 36 Benign 14.53 39792 chr20 33169405 33169405 C T rs41290896 PIGU Nonsynonymous SNV G333E 0.009 0.003 0.02 3 11 1 0.008 6 0 0 0 0 28.6 39793 chr20 60572663 60572663 C A rs2296081 TAF4 Synonymous SNV A1011A 0.693 0.685 0.704 270 814 263 0.692 207 281 94 73 88 18.08 39794 chr20 33328420 33328420 C T rs61751051 NCOA6 Synonymous SNV T1880T 0.008 0.003 0.027 3 9 1 0.008 8 0 0 0 0 Benign 15.27 39795 chr20 10386013 10386013 C A rs1545 MKKS Nonsynonymous SNV G532V 0.094 0.109 0.133 36 110 42 0.092 39 11 1 1 0 Benign 13.44 39796 chr1 8421186 8421186 G A rs201922249 RERE Nonsynonymous SNV P240L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 18.83 39797 chr3 194387186 194387186 C T rs35670721 LSG1 Synonymous SNV P114P 0.079 0.096 0.105 35 93 37 0.09 31 6 2 1 2 15.49 39798 chr20 10386059 10386059 G A rs1547 MKKS Nonsynonymous SNV R517C 0.094 0.109 0.133 36 110 42 0.092 39 11 1 1 0 Benign 10.94 39799 chr3 194408821 194408821 G C rs79296405 FAM43A Synonymous SNV S422S 0.041 0.042 0.058 25 48 16 0.064 17 3 0 0 1 1.394 39800 chr20 10393629 10393629 G A rs17852625 MKKS Synonymous SNV I178I 0.094 0.109 0.133 36 110 42 0.092 39 11 1 1 0 Benign 0.471 39801 chr20 10394046 10394046 G A rs16991547 MKKS Synonymous SNV P39P 0.095 0.109 0.139 37 112 42 0.095 41 11 1 2 0 Benign 7.04 39802 chr20 10620275 10620275 G A rs1051421 JAG1 Synonymous SNV Y1176Y 0.313 0.333 0.289 138 367 128 0.354 85 61 20 15 30 Benign 0.057 39803 chr20 33584304 33584304 G A rs41312284 MYH7B Synonymous SNV R1075R 0.048 0.076 0.051 22 56 29 0.056 15 0 2 0 0 12.79 39804 chr3 195497143 195497143 C T rs2293232 MUC4 Nonsynonymous SNV A161T 0.086 0.086 0.119 42 101 33 0.108 35 3 2 3 1 20.1 39805 chr20 33584310 33584310 G A rs41310801 MYH7B Synonymous SNV E1077E 0.048 0.076 0.051 22 56 29 0.056 15 0 2 0 0 11.66 39806 chr20 55209257 55209257 T C rs35023929 TFAP2C Synonymous SNV I285I 0.19 0.182 0.187 63 223 70 0.162 55 30 8 4 8 5.593 39807 chr20 55803299 55803299 C T rs41274738 BMP7 Synonymous SNV Q199Q 0.039 0.047 0.034 10 46 18 0.026 10 1 1 1 0 14.12 39808 chr20 60893639 60893639 G C rs6089732 LAMA5 Synonymous SNV T2370T 0.25 0.255 0.211 91 293 98 0.233 62 36 14 4 10 0.653 39809 chr20 60897104 60897104 C T rs141208202 LAMA5 Nonsynonymous SNV G2156E 0.049 0.039 0.058 26 57 15 0.067 17 2 1 1 2 8.076 39810 chr1 84991607 84991607 - TGAGCGG rs771061243 SPATA1 Stop gain Q135* 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 39811 chr20 60899196 60899196 C T rs116895933 LAMA5 Nonsynonymous SNV R1903K 0.037 0.044 0.037 15 44 17 0.038 11 1 1 0 0 0.188 39812 chr20 47736561 47736561 C A rs199875251 STAU1 Synonymous SNV P282P 0.004 0 0 0 5 0 0 0 0 0 0 0 19.8 39813 chr20 47775474 47775474 - C rs11480966 STAU1 0.434 0.448 0.449 149 509 172 0.382 132 122 43 34 24 39814 chr20 4167470 4167470 C T rs367831234 SMOX Synonymous SNV G537G 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 18.33 39815 chr20 47859217 47859217 G A rs1130146 DDX27 Nonsynonymous SNV G766S 0.428 0.44 0.429 143 503 169 0.367 126 118 39 31 20 26.2 39816 chr20 34240740 34240740 - GGGCCG rs201181145 RBM12 P837_I838insGP 0.114 0.125 0.133 62 134 48 0.159 39 7 3 3 7 39817 chr20 16492163 16492163 T C rs16997775 KIF16B Synonymous SNV E152E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.135 39818 chr20 42343821 42343821 C G rs11556379 MYBL2 Nonsynonymous SNV I600M 0.06 0.057 0.044 24 70 22 0.062 13 1 0 1 1 9.723 39819 chr20 35852309 35852309 G A rs117475222 RPN2 Nonsynonymous SNV G217D 0.019 0.026 0.031 13 22 10 0.033 9 0 0 0 1 25.5 39820 chr20 42747247 42747247 C T rs3810510 JPH2 Nonsynonymous SNV A396T 0.151 0.19 0.259 64 177 73 0.164 76 12 6 12 1 Benign 26.2 39821 chr20 42747254 42747254 G A rs7268512 JPH2 Synonymous SNV H393H 0.089 0.07 0.078 32 104 27 0.082 23 2 0 0 2 Benign 10.12 39822 chr20 56195349 56195349 C T rs45521631 ZBP1 Star tloss M1? 0.017 0.016 0.02 9 20 6 0.023 6 0 0 0 1 22.2 39823 chr20 3649633 3649640 TCTGGACT - rs146576636 ADAM33 Q778Hfs*13 0.03 0.036 0.041 10 35 14 0.026 12 0 0 0 0 39824 chr20 13251316 13251316 T C rs77255807 ISM1 Nonsynonymous SNV S102P 0.03 0.039 0.051 18 35 15 0.046 15 1 0 0 0 22.2 39825 chr20 13269248 13269248 C T rs3827705 ISM1 Synonymous SNV N235N 0.06 0.055 0.048 16 71 21 0.041 14 3 0 0 0 14.08 39826 chr20 48565870 48565870 G A rs201214258 RNF114 Nonsynonymous SNV R200Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.5 39827 chr20 3655219 3655219 T C rs3918392 ADAM33 Nonsynonymous SNV T178A 0.026 0.039 0.027 8 31 15 0.021 8 0 0 0 0 0.084 39828 chr20 57042665 57042665 A G rs7265854 APCDD1L Nonsynonymous SNV Y80H 0.064 0.055 0.014 21 75 21 0.054 4 6 0 0 0 12.41 39829 chr1 85733374 85733374 C T rs3768235 BCL10 Nonsynonymous SNV G202E 0.046 0.057 0.037 16 54 22 0.041 11 2 0 1 0 Benign 12.56 39830 chr1 86361717 86361719 GGC - COL24A1 P255del 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 39831 chr1 86361720 86361720 C T COL24A1 Nonsynonymous SNV G254E 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 26.6 39832 chr1 86361722 86361722 - TTTTTC COL24A1 R253_G254insKK 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 39833 chr20 57276189 57276189 C G NPEPL1 Nonsynonymous SNV T266S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 27.5 39834 chr11 62298068 62298068 A G rs115627503 AHNAK Nonsynonymous SNV V1274A 0.02 0.008 0.048 7 23 3 0.018 14 0 0 1 0 22.7 39835 chr20 60982024 60982024 C T rs146975578 CABLES2 Synonymous SNV L103L 0.13 0.167 0.078 64 153 64 0.164 23 24 14 7 15 12.99 39836 chr20 60987737 60987737 C T rs6089366 RBBP8NL Nonsynonymous SNV E607K 0.156 0.146 0.119 76 183 56 0.195 35 15 4 2 6 13.15 39837 chr20 57290347 57290347 C G rs6026468 NPEPL1 Nonsynonymous SNV L513V 0.611 0.565 0.565 243 717 217 0.623 166 219 65 51 70 0.001 39838 chr20 60989185 60989185 C T rs10888228 RBBP8NL Nonsynonymous SNV A408T 0.141 0.138 0.146 78 166 53 0.2 43 16 4 2 8 13.18 39839 chr3 197409341 197409341 G A rs35071969 RUBCN Nonsynonymous SNV T709M 0.042 0.047 0.02 2 49 18 0.005 6 0 0 0 0 26.3 39840 chr20 61048549 61048549 G A rs41305803 GATA5 Synonymous SNV D203D 0.454 0.482 0.486 166 533 185 0.426 143 121 46 35 39 9.704 39841 chr11 62397897 62397897 A G rs150839688 GANAB Synonymous SNV Y375Y 0.005 0.01 0.007 4 6 4 0.01 2 0 0 0 0 0.016 39842 chr20 5166418 5166418 G A rs3818196 CDS2 Synonymous SNV K258K 0.028 0.021 0.02 13 33 8 0.033 6 0 0 0 0 13.9 39843 chr11 111782284 111782284 C T rs2228387 CRYAB Synonymous SNV L55L 0.014 0.021 0.01 4 16 8 0.01 3 0 0 0 0 Benign 13.88 39844 chr3 20043502 20043502 C T rs9882323 PP2D1 Nonsynonymous SNV R37H 0.221 0.234 0.194 94 260 90 0.241 57 17 11 4 11 5.126 39845 chr20 36850988 36850988 C T rs35524973 KIAA1755 Synonymous SNV R411R 0.055 0.055 0.037 15 64 21 0.038 11 4 3 0 0 14.26 39846 chr20 52192637 52192637 T C rs34323943 ZNF217 Nonsynonymous SNV D889G 0.124 0.109 0.143 51 145 42 0.131 42 10 4 3 3 4.082 39847 chr20 61288015 61288015 G A rs34419428 SLCO4A1 Nonsynonymous SNV R70Q 0.025 0.049 0.024 11 29 19 0.028 7 2 1 0 0 0.164 39848 chr20 5903223 5903223 G A rs6133278 CHGB Nonsynonymous SNV D145N 0.02 0.013 0.017 4 23 5 0.01 5 0 0 0 0 0.005 39849 chr20 36856616 36856616 G A rs16987188 KIAA1755 Nonsynonymous SNV A633V 0.069 0.089 0.058 19 81 34 0.049 17 5 3 1 0 0.062 39850 chr3 20043531 20043531 C T rs9882344 PP2D1 Synonymous SNV E27E 0.221 0.234 0.194 94 260 90 0.241 57 17 11 4 11 7.79 39851 chr20 52193088 52193088 C T rs6063966 ZNF217 Nonsynonymous SNV V739I 0.13 0.115 0.15 55 153 44 0.141 44 11 4 3 4 0.006 39852 chr11 62484531 62484531 C T rs142868058 HNRNPUL2 Synonymous SNV E637E 0.022 0.01 0.044 7 26 4 0.018 13 0 0 0 0 17.12 39853 chr20 61288370 61288370 G A rs61730134 SLCO4A1 Synonymous SNV A188A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.047 39854 chr3 21447525 21447525 G A rs366161 VENTXP7 0 0 0.524 0 0 0 0 154 0 0 41 0 6.205 39855 chr20 5903485 5903485 G A rs6139873 CHGB Nonsynonymous SNV R232Q 0.015 0.013 0.003 5 18 5 0.013 1 0 0 0 0 22.7 39856 chr3 21447799 21447799 T C rs430387 VENTXP7 0 0 0.588 0 0 0 0 173 0 0 52 0 1.334 39857 chr20 61299253 61299253 C T rs138089582 SLCO4A1 Synonymous SNV D543D 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 7.738 39858 chr3 21447834 21447834 C T rs440905 VENTXP7 0 0 0.588 0 0 0 0 173 0 0 52 0 5.347 39859 chr3 21447896 21447896 A G rs800605 VENTXP7 0 0 0.588 0 0 0 0 173 0 0 52 0 0.246 39860 chr20 52645166 52645166 A G rs158551 BCAS1 Nonsynonymous SNV V163A 0.083 0.102 0.051 34 98 39 0.087 15 2 3 0 0 0.002 39861 chr3 21447901 21447901 - CC rs112237068 VENTXP7 0 0 0.48 0 0 0 0 141 0 0 34 0 39862 chr3 21447957 21447957 C T rs776644 VENTXP7 0 0 0.483 0 0 0 0 142 0 0 34 0 6.901 39863 chr20 61459315 61459315 C T rs45628843 COL9A3 Nonsynonymous SNV P296L 0.076 0.091 0.071 36 89 35 0.092 21 5 2 0 0 Benign/Likely benign 16.7 39864 chr20 36869396 36869396 G A rs41282822 KIAA1755 Synonymous SNV D379D 0.061 0.07 0.034 17 72 27 0.044 10 4 3 0 0 2.039 39865 chr20 5904289 5904289 G A rs74621755 CHGB Nonsynonymous SNV R500K 0.017 0.016 0.003 4 20 6 0.01 1 0 0 0 0 0.948 39866 chr20 61460124 61460124 G A rs2249903 COL9A3 Synonymous SNV P303P 0.152 0.154 0.167 50 178 59 0.128 49 15 6 3 3 Benign 14.07 39867 chr20 52788190 52788190 G A rs35873579 CYP24A1 Nonsynonymous SNV R157W 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.6 39868 chr20 61463522 61463522 C A rs751557 COL9A3 Nonsynonymous SNV A435E 0.194 0.174 0.187 65 228 67 0.167 55 28 7 4 6 Benign 22.6 39869 chr20 44441403 44441403 C G rs11537645 UBE2C Nonsynonymous SNV S23R 0.014 0.029 0.014 10 16 11 0.026 4 0 0 0 0 18.41 39870 chr20 36869769 36869769 C T rs41282824 KIAA1755 Nonsynonymous SNV R255Q 0.061 0.07 0.034 17 72 27 0.044 10 4 3 0 0 16.06 39871 chr3 25639849 25639849 A G rs11548723 TOP2B Synonymous SNV F1605F 0.017 0.021 0.014 8 20 8 0.021 4 0 1 0 0 0.343 39872 chr20 36870122 36870122 T A rs1205435 KIAA1755 Synonymous SNV P137P 0.061 0.07 0.017 17 72 27 0.044 5 4 3 0 0 0.048 39873 chr20 60318722 60318722 G A CDH4 Synonymous SNV L54L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.5 39874 chr20 61528074 61528074 T C rs910149 DIDO1 Synonymous SNV A621A 0.562 0.518 0.585 218 660 199 0.559 172 195 47 49 58 1.228 39875 chr20 55012461 55012461 G A rs35360819 CASS4 Nonsynonymous SNV S93N 0.009 0 0 0 11 0 0 0 0 0 0 0 0.006 39876 chr20 61528271 61528271 C T rs1883847 DIDO1 Nonsynonymous SNV A556T 0.297 0.271 0.296 116 349 104 0.297 87 50 10 11 20 0.277 39877 chr20 55100005 55100005 T C rs2426632 FAM209A Synonymous SNV N47N 0.045 0.031 0.044 15 53 12 0.038 13 0 0 0 0 0.005 39878 chr20 61528306 61528306 A G rs1883848 DIDO1 Nonsynonymous SNV M544T 0.444 0.398 0.493 184 521 153 0.472 145 116 29 36 42 0.011 39879 chr11 113266821 113266821 G A rs7118900 ANKK1 Nonsynonymous SNV A239T 0.14 0.112 0.156 54 164 43 0.138 46 9 4 4 2 4.794 39880 chr20 6064731 6064731 C T rs2232079 FERMT1 Synonymous SNV A558A 0.094 0.096 0.065 31 110 37 0.079 19 5 2 1 3 Benign 21.1 39881 chr20 55111371 55111371 G A rs2296130 FAM209B Synonymous SNV Q131Q 0.381 0.359 0.333 144 447 138 0.369 98 78 24 17 28 0.526 39882 chr1 879317 879317 C T rs7523549 SAMD11 Synonymous SNV Y610Y 0.038 0.042 0.054 11 45 16 0.028 16 0 1 0 0 10.03 39883 chr3 27763427 27763427 - CGGCGC rs3062761 EOMES A119_A120insGA 0.165 0.122 0.395 68 194 47 0.174 116 73 16 32 23 39884 chr20 61595636 61595636 C T rs2248900 SLC17A9 Synonymous SNV S293S 0.125 0.117 0.146 60 147 45 0.154 43 5 1 3 2 12.05 39885 chr20 3765819 3765819 C T rs144899160 CENPB Nonsynonymous SNV E438K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.15 39886 chr20 61834695 61834695 G A rs6122103 YTHDF1 Synonymous SNV A199A 0.347 0.378 0.323 125 407 145 0.321 95 73 30 17 19 4.956 39887 chr20 61835136 61835136 G A rs777419609 YTHDF1 Synonymous SNV S52S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 12.45 39888 chr20 61870727 61870727 G C rs1077019 BIRC7 Nonsynonymous SNV E223Q 0.203 0.193 0.19 74 238 74 0.19 56 17 6 6 6 0.206 39889 chr20 44691350 44691350 T G rs1537028 NCOA5 Synonymous SNV T338T 0.364 0.367 0.405 146 427 141 0.374 119 77 23 25 25 0.004 39890 chr20 60776027 60776027 C T rs143916641 MTG2 Nonsynonymous SNV A372V 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 29.7 39891 chr20 44806643 44806643 G A rs34603854 CDH22 Synonymous SNV A619A 0.1 0.128 0.129 35 117 49 0.09 38 8 3 3 0 13.35 39892 chr20 61879009 61879009 G T rs2236194 NKAIN4 Nonsynonymous SNV A69D 0.2 0.193 0.214 74 235 74 0.19 63 17 6 6 7 22.6 39893 chr20 44806727 44806727 G A rs35585191 CDH22 Synonymous SNV S591S 0.101 0.128 0.129 37 119 49 0.095 38 9 3 3 0 9.69 39894 chr20 61881296 61881296 A G rs927081 NKAIN4 Synonymous SNV Y61Y 0.566 0.591 0.51 223 664 227 0.572 150 179 63 38 62 0.001 39895 chr20 60791866 60791866 G A rs41284986 HRH3 Synonymous SNV S178S 0.033 0.023 0.01 17 39 9 0.044 3 2 0 0 1 9.675 39896 chr11 113270828 113270828 G A rs1800497 ANKK1 Nonsynonymous SNV E713K 0.148 0.133 0.156 58 174 51 0.149 46 10 4 4 3 drug response 0.812 39897 chr20 44879844 44879844 C T CDH22 Synonymous SNV P30P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17.14 39898 chr20 6088265 6088265 G A rs62200482 FERMT1 Nonsynonymous SNV R255C 0.053 0.055 0.054 21 62 21 0.054 16 2 2 0 1 Benign 32 39899 chr20 45221055 45221055 C G rs141554970 SLC13A3 Nonsynonymous SNV G253A 0.025 0.023 0.02 10 29 9 0.026 6 0 0 0 0 22.7 39900 chr3 32533246 32533246 T C rs35574803 CMTM6 Nonsynonymous SNV T91A 0.033 0.034 0.068 13 39 13 0.033 20 0 0 1 0 22.8 39901 chr20 46268493 46268493 A G rs2076546 NCOA3 Synonymous SNV T960T 0.151 0.154 0.143 74 177 59 0.19 42 19 5 2 6 0.064 39902 chr20 46279827 46279827 G A rs6018623 NCOA3 Synonymous SNV Q1250Q 0.149 0.141 0.143 69 175 54 0.177 42 18 3 2 5 4.427 39903 chr20 60893959 60893959 C T rs199615528 LAMA5 Nonsynonymous SNV A2328T 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 Likely benign 5.008 39904 chr20 46279866 46279866 A G rs1132443 NCOA3 Synonymous SNV Q1263Q 0.145 0.138 0.133 65 170 53 0.167 39 17 3 1 3 Likely benign 0.038 39905 chr20 42168905 42168905 C T rs1030340944 L3MBTL1 Nonsynonymous SNV A673V 0.001 0 0 0 1 0 0 0 0 0 0 0 28 39906 chr20 56188219 56188219 C T rs41304401 ZBP1 Nonsynonymous SNV G149S 0.009 0.005 0.024 4 10 2 0.01 7 0 0 0 0 Benign 10.35 39907 chr20 19955803 19955803 C T rs370646119 RIN2 Synonymous SNV S378S 0 0 0 0 0 0 0 0 0 0 0 0 9.345 39908 chr20 61990939 61990939 G A rs2273506 CHRNA4 Synonymous SNV L63L 0.095 0.102 0.092 38 111 39 0.097 27 7 2 0 5 Benign 7.668 39909 chr20 62172244 62172244 C G rs33933649 SRMS Nonsynonymous SNV S465T 0.033 0.026 0.027 13 39 10 0.033 8 0 0 0 0 0.006 39910 chr20 42355213 42355213 G A rs142229360 GTSF1L Nonsynonymous SNV A41V 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 25.3 39911 chr20 62187187 62187187 T C rs3746348 FNDC11 Synonymous SNV S57S 0.488 0.479 0.442 190 573 184 0.487 130 147 40 27 49 0.007 39912 chr20 4713029 4713029 G C rs77391194 PRNT 0.025 0.023 0.017 11 29 9 0.028 5 1 0 0 0 0.41 39913 chr3 33194990 33194990 C A rs6810039 SUSD5 Nonsynonymous SNV E378D 0.377 0.422 0.381 123 443 162 0.315 112 83 33 24 18 0.011 39914 chr20 62187439 62187439 T C rs734750 FNDC11 Synonymous SNV D141D 0.5 0.495 0.442 198 587 190 0.508 130 152 42 28 54 0.001 39915 chr20 4713176 4713176 A G rs2735677 PRNT 0.226 0.229 0.207 86 265 88 0.221 61 32 14 7 12 0.023 39916 chr3 33195284 33195284 G A rs61743511 SUSD5 Synonymous SNV P280P 0.189 0.177 0.173 55 222 68 0.141 51 21 6 5 3 2.545 39917 chr20 62191558 62191558 G A rs3810479 HELZ2 Synonymous SNV A1972A 0.167 0.138 0.156 65 196 53 0.167 46 19 9 5 7 2.955 39918 chr3 33195309 33195309 A G rs61743461 SUSD5 Nonsynonymous SNV L272S 0.191 0.177 0.177 55 224 68 0.141 52 22 6 5 3 0.027 39919 chr20 62193019 62193019 C T rs11551684 HELZ2 Synonymous SNV P1688P 0.161 0.135 0.133 70 189 52 0.179 39 13 5 4 5 10.4 39920 chr20 62193445 62193445 G A rs3810481 HELZ2 Nonsynonymous SNV T1601M 0.136 0.091 0.126 64 160 35 0.164 37 10 3 4 4 22.7 39921 chr20 43042364 43042364 C T rs1800961 HNF4A Nonsynonymous SNV T139I 0.014 0.01 0.007 14 16 4 0.036 2 0 0 0 1 Benign/Likely benign 24.7 39922 chr20 17639857 17639857 G T rs77553739 RRBP1 Synonymous SNV A432A 0.086 0.07 0.068 33 101 27 0.085 20 0 0 0 0 0.203 39923 chr20 43254298 43254298 C T rs61737144 ADA Synonymous SNV V130V 0.03 0.044 0.031 16 35 17 0.041 9 1 0 0 0 Benign 13.99 39924 chr20 18005424 18005424 G T rs144397235 OVOL2 Nonsynonymous SNV D96E 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 14.31 39925 chr20 62194713 62194713 A C rs3810486 HELZ2 Nonsynonymous SNV L1252R 0.17 0.156 0.146 74 200 60 0.19 43 21 6 4 6 0.207 39926 chr20 57415455 57415455 C T rs1800902 GNAS Synonymous SNV P98P 0.03 0.034 0.014 13 35 13 0.033 4 1 0 0 0 13.66 39927 chr20 62195220 62195220 C T rs3827022 HELZ2 Nonsynonymous SNV R1083Q 0.172 0.159 0.15 75 202 61 0.192 44 18 6 4 6 0.078 39928 chr20 57429627 57429627 C A rs61749698 GNAS Nonsynonymous SNV P374T 0.02 0.023 0.02 13 24 9 0.033 6 0 0 0 0 Benign 0.024 39929 chr20 21695159 21695159 A T rs755274621 PAX1 Nonsynonymous SNV S445C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.392 39930 chr20 62195553 62195553 A G rs753613427 HELZ2 Nonsynonymous SNV V972A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 14.98 39931 chr20 57429696 57429696 C G rs148033592 GNAS Nonsynonymous SNV L397V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 not provided 19.24 39932 chr20 62195672 62195672 C T rs3827023 HELZ2 Synonymous SNV L932L 0.175 0.159 0.15 75 205 61 0.192 44 17 6 4 6 5.055 39933 chr1 89844035 89844035 T C rs35837853 GBP6 Nonsynonymous SNV V33A 0.024 0.039 0.041 4 28 15 0.01 12 0 0 0 0 0.008 39934 chr3 37363353 37363353 G T rs77527284 GOLGA4 Nonsynonymous SNV Q559H 0.015 0.013 0.027 5 18 5 0.013 8 0 0 0 1 23 39935 chr20 62196033 62196033 C T rs3810487 HELZ2 Nonsynonymous SNV R812K 0.175 0.159 0.15 76 205 61 0.195 44 18 6 4 6 0.004 39936 chr20 6093177 6093177 A G rs16991866 FERMT1 Nonsynonymous SNV I160T 0.027 0.026 0.058 12 32 10 0.031 17 2 2 0 1 Benign 9.44 39937 chr3 37368758 37368758 T C rs78214260 GOLGA4 Nonsynonymous SNV I1794T 0.017 0.016 0.027 5 20 6 0.013 8 0 0 0 1 0.076 39938 chr20 57564695 57564695 C T rs17851253 NELFCD Synonymous SNV A219A 0.073 0.091 0.102 32 86 35 0.082 30 2 0 1 1 14.01 39939 chr20 62196182 62196182 G C rs3810488 HELZ2 Synonymous SNV A762A 0.145 0.135 0.122 65 170 52 0.167 36 11 3 3 3 1.711 39940 chr20 60937516 60937516 A G rs41284996 LAMA5 Synonymous SNV S130S 0.053 0.049 0.044 15 62 19 0.038 13 0 1 2 0 8.995 39941 chr3 37476427 37476427 C T rs17266511 C3orf35 Nonsynonymous SNV H107Y 0.083 0.055 0.068 19 97 21 0.049 20 10 0 0 0 0.034 39942 chr20 43850736 43850736 T A rs377178712 SEMG2 Nonsynonymous SNV L155I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.001 39943 chr3 38080952 38080952 T G rs7625806 DLEC1 Nonsynonymous SNV L79R 0.295 0.302 0.282 130 346 116 0.333 83 45 16 12 23 3.862 39944 chr20 2297997 2297997 G A rs201000537 TGM3 Synonymous SNV A283A 0 0 0 0 0 0 0 0 0 0 0 0 9.681 39945 chr20 60962943 60962943 T C rs1043008 RPS21 Synonymous SNV Y53Y 0.06 0.063 0.051 14 71 24 0.036 15 0 0 0 0 0.19 39946 chr20 57598848 57598848 C T rs34793043 TUBB1 Synonymous SNV H122H 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 3.906 39947 chr11 117392110 117392110 A G rs35503235 DSCAML1 Synonymous SNV H316H 0.028 0.018 0.01 5 33 7 0.013 3 0 0 0 0 0.104 39948 chr3 38087123 38087123 T C rs7630340 DLEC1 Synonymous SNV N167N 0.103 0.109 0.088 42 121 42 0.108 26 6 2 1 3 0.009 39949 chr3 38125705 38125705 G A rs7652276 DLEC1 Synonymous SNV P410P 0.23 0.253 0.218 93 270 97 0.238 64 32 7 9 13 12.29 39950 chr20 57599402 57599402 G A rs6070697 TUBB1 Nonsynonymous SNV R307H 0.163 0.164 0.197 70 191 63 0.179 58 17 6 2 3 11.41 39951 chr1 89849268 89849268 T C rs41288387 GBP6 Synonymous SNV L345L 0.024 0.036 0.041 4 28 14 0.01 12 0 0 0 0 0.018 39952 chr3 38151731 38151731 T C rs12630114 DLEC1 Synonymous SNV Y1137Y 0.336 0.367 0.313 139 394 141 0.356 92 59 27 15 26 0.005 39953 chr20 6096632 6096632 G A rs1056141 FERMT1 Synonymous SNV L71L 0.078 0.076 0.061 29 91 29 0.074 18 2 2 0 1 Benign 13.06 39954 chr3 38164071 38164073 ATG - rs144512522 DLEC1 D1772del 0.176 0.18 0.17 69 207 69 0.177 50 19 3 4 6 39955 chr20 60966374 60966374 G C rs13042761 CABLES2 Synonymous SNV G409G 0.072 0.091 0.068 16 85 35 0.041 20 3 0 1 0 9.226 39956 chr3 38292899 38292899 G A rs769206279 OXSR1 Nonsynonymous SNV A461T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 39957 chr20 60990257 60990257 G T rs200432639 RBBP8NL Synonymous SNV P238P 0.008 0.003 0.014 4 9 1 0.01 4 0 0 0 0 8.121 39958 chr11 64112050 64112050 C T rs35864060 CCDC88B Synonymous SNV A679A 0.023 0.023 0.014 7 27 9 0.018 4 1 0 0 0 10.12 39959 chr20 62200576 62200576 G A rs6090457 HELZ2 Nonsynonymous SNV S338L 0.175 0.159 0.129 75 205 61 0.192 38 18 6 4 6 23.3 39960 chr20 23377815 23377815 G A rs17750862 NAPB Synonymous SNV N67N 0.032 0.023 0.065 5 38 9 0.013 19 1 0 1 0 10.05 39961 chr20 62221766 62221766 C T rs2297428 GMEB2 Synonymous SNV P423P 0.193 0.182 0.16 99 227 70 0.254 47 19 4 3 9 9.721 39962 chr1 9099723 9099723 T C SLC2A5 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 24.3 39963 chr20 61288593 61288593 G A rs140267842 SLCO4A1 Nonsynonymous SNV V263I 0.01 0.016 0.031 12 12 6 0.031 9 0 0 1 0 23 39964 chr20 62290663 62290663 C T rs2297432 RTEL1-TNFRSF6B 0.589 0.617 0.442 231 692 237 0.592 130 203 69 51 70 6.966 39965 chr20 44180707 44180707 G A WFDC8 Synonymous SNV C228C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 2.101 39966 chr20 61296367 61296367 C A rs148710404 SLCO4A1 Synonymous SNV G401G 0.011 0.016 0.031 12 13 6 0.031 9 0 0 1 0 9.267 39967 chr20 61296461 61296461 G A rs188133477 SLCO4A1-AS1 0.011 0.016 0.031 13 13 6 0.033 9 0 0 1 0 4.921 39968 chr20 61296465 61296465 C T rs142281342 SLCO4A1-AS1 0.011 0.016 0.031 13 13 6 0.033 9 0 0 1 0 5.292 39969 chr20 5923203 5923203 T C rs394940 TRMT6 Synonymous SNV E129E 0.143 0.138 0.156 56 168 53 0.144 46 8 2 3 1 0.08 39970 chr20 62324289 62324289 C T rs3848672 RTEL1 Synonymous SNV F705F 0.149 0.143 0.112 54 175 55 0.138 33 14 1 1 4 11.31 39971 chr20 61488785 61488785 T C rs2294996 TCFL5 Synonymous SNV Q399Q 0.272 0.307 0.337 126 319 118 0.323 99 43 13 14 25 2.934 39972 chr20 5923204 5923204 T C rs451571 TRMT6 Nonsynonymous SNV E129G 0.143 0.138 0.156 56 168 53 0.144 46 8 2 3 1 11.94 39973 chr20 2380323 2380323 G A rs6114033 TGM6 Synonymous SNV K263K 0.124 0.141 0.133 56 146 54 0.144 39 8 1 2 5 Benign 10.29 39974 chr20 5933108 5933108 C A rs236110 MCM8 Nonsynonymous SNV Q63K 0.129 0.107 0.136 44 152 41 0.113 40 10 1 4 2 3.753 39975 chr3 3886367 3886367 G T rs149996240 LRRN1 Synonymous SNV V14V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.079 39976 chr20 6011934 6011934 C T rs41282950 CRLS1 Nonsynonymous SNV P94L 0.16 0.193 0.143 79 188 74 0.203 42 14 10 2 7 22.2 39977 chr20 2464984 2464984 T C rs61745440 ZNF343 Nonsynonymous SNV N118S 0.02 0.018 0.027 13 23 7 0.033 8 0 0 0 1 0.002 39978 chr11 118896009 118896009 C A rs80356490 SLC37A4 Nonsynonymous SNV G339C 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Pathogenic 34 39979 chr20 6032927 6032927 C T rs6107750 LRRN4 Synonymous SNV Q173Q 0.17 0.211 0.204 81 199 81 0.208 60 21 14 4 8 4.376 39980 chr20 50405502 50405502 C G rs17802735 SALL4 Synonymous SNV S443S 0.155 0.125 0.119 38 182 48 0.097 35 17 4 0 2 Benign 11.76 39981 chr20 61867678 61867678 G - rs762822972 BIRC7 P79Lfs*21 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 39982 chr20 61869826 61869826 C T rs2273487 BIRC7 Synonymous SNV S176S 0.443 0.487 0.398 183 520 187 0.469 117 121 48 33 44 10.3 39983 chr20 61878950 61878950 A C rs872808 NKAIN4 Nonsynonymous SNV C89G 0.346 0.385 0.289 145 406 148 0.372 85 75 27 16 24 0.001 39984 chr20 5100461 5100461 C T rs1039905722 PCNA-AS1 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 8.705 39985 chr20 51870336 51870336 G C rs739869 TSHZ2 Nonsynonymous SNV R110S 0.094 0.089 0.082 19 110 34 0.049 24 3 0 1 0 0.006 39986 chr20 61880169 61880169 T G rs1129659 NKAIN4 Nonsynonymous SNV K29Q 0.346 0.385 0.293 144 406 148 0.369 86 75 27 16 24 6.997 39987 chr20 25062715 25062715 C A rs8123716 VSX1 Synonymous SNV S6S 0.059 0.057 0.054 17 69 22 0.044 16 1 2 0 1 Benign 19.31 39988 chr11 119050906 119050906 G A rs45450295 NLRX1 Nonsynonymous SNV A726T 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 8.508 39989 chr20 25176855 25176855 G C rs6138534 ENTPD6 Nonsynonymous SNV A4P 0.187 0.188 0 73 220 72 0.187 0 23 4 0 7 6.079 39990 chr11 64673907 64673907 C T rs117361031 ATG2A Nonsynonymous SNV V1020M 0.014 0.013 0 8 16 5 0.021 0 0 0 0 0 10.74 39991 chr20 44512638 44512638 G T rs34017227 ZSWIM1 Synonymous SNV L469L 0.108 0.102 0.109 40 127 39 0.103 32 5 0 3 4 5.201 39992 chr20 44578674 44578674 T A rs16990951 ZNF335 Synonymous SNV P1174P 0.094 0.107 0.078 41 110 41 0.105 23 3 4 1 4 Likely benign 6.152 39993 chr20 44578961 44578961 A G rs3746503 ZNF335 Synonymous SNV P1128P 0.083 0.091 0.065 36 97 35 0.092 19 0 4 2 3 Likely benign 0.802 39994 chr20 741847 741847 A G rs910857 SLC52A3 Synonymous SNV S411S 0.635 0.688 0.653 247 745 264 0.633 192 238 90 67 79 Benign 10.24 39995 chr20 60885559 60885559 G A rs533441062 LAMA5 Nonsynonymous SNV R3506W 0.009 0.005 0 0 10 2 0 0 0 0 0 0 24.5 39996 chr20 744450 744450 G A rs3746805 SLC52A3 Synonymous SNV L255L 0.449 0.479 0.476 192 527 184 0.492 140 112 47 37 46 Benign 3.309 39997 chr20 7964476 7964476 T C rs1135711 TMX4 Nonsynonymous SNV Y215C 0.037 0.026 0.037 12 44 10 0.031 11 1 1 0 0 11.3 39998 chr20 53208316 53208316 A G rs770109660 DOK5 Nonsynonymous SNV T191A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.838 39999 chr3 39185785 39185785 C T rs757359136 CSRNP1 Nonsynonymous SNV R228Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 40000 chr20 869052 869052 G A ANGPT4 Stop gain Q166X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 36 40001 chr20 62038378 62038378 A T rs1801471 KCNQ2 Synonymous SNV P718P 0.089 0.068 0.075 34 105 26 0.087 22 5 0 0 1 Benign 0.002 40002 chr20 54961541 54961541 A T rs2273535 AURKA Nonsynonymous SNV F31I 0.206 0.195 0.224 67 242 75 0.172 66 19 8 9 4 risk factor 0.006 40003 chr20 60897721 60897721 C T rs3737137 LAMA5 Nonsynonymous SNV R2053H 0.042 0.018 0.092 12 49 7 0.031 27 18 3 11 4 13.6 40004 chr20 19970888 19970888 G A rs35151304 RIN2 Synonymous SNV P667P 0.099 0.102 0.078 37 116 39 0.095 23 4 1 2 0 Benign 10.28 40005 chr20 62166313 62166313 C T rs310640 PTK6 Synonymous SNV P110P 0.017 0.021 0.003 6 20 8 0.015 1 1 0 0 0 6.921 40006 chr20 55012318 55012318 G A rs911159 CASS4 Synonymous SNV V45V 0.125 0.094 0.099 44 147 36 0.113 29 12 2 2 4 0.849 40007 chr20 62172269 62172269 C A rs310654 SRMS Nonsynonymous SNV V457L 0.042 0.026 0.041 12 49 10 0.031 12 2 0 0 0 5.985 40008 chr20 62172281 62172281 C T rs310655 SRMS Nonsynonymous SNV A453T 0.048 0.029 0.044 16 56 11 0.041 13 2 0 0 0 5.283 40009 chr20 45878118 45878118 C G rs77137073 ZMYND8 Nonsynonymous SNV V491L 0.013 0.021 0.007 3 15 8 0.008 2 0 1 0 0 Benign 10.44 40010 chr20 62173561 62173561 C G rs310657 SRMS Nonsynonymous SNV V301L 0.015 0.016 0.003 5 18 6 0.013 1 1 0 0 0 26 40011 chr20 45920544 45920544 T C ZMYND8 Nonsynonymous SNV E194G 0.001 0 0 0 1 0 0 0 0 0 0 0 30 40012 chr20 62173925 62173925 T G rs404613 SRMS Synonymous SNV R219R 0.047 0.029 0.065 16 55 11 0.041 19 3 0 1 0 0.074 40013 chr20 62173927 62173927 G A rs378483 SRMS Nonsynonymous SNV P218L 0.034 0.018 0.037 11 40 7 0.028 11 2 0 0 0 0.738 40014 chr20 46256424 46256424 C T rs6094752 NCOA3 Nonsynonymous SNV R218C 0.087 0.091 0.058 36 102 35 0.092 17 4 2 1 2 34 40015 chr20 46279815 46279823 GCAGCAGCA - rs751385560 NCOA3 Q1273_Q1275del 0.106 0.091 0.122 49 125 35 0.126 36 6 0 3 3 40016 chr20 56098315 56098315 T A rs146560816 CTCFL Nonsynonymous SNV K188M 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 9.43 40017 chr20 2774910 2774910 G A rs41297632 CPXM1 Synonymous SNV L637L 0.028 0.029 0.024 10 33 11 0.026 7 1 0 0 0 Benign 10.14 40018 chr21 15596772 15596772 T G rs409782 RBM11 Nonsynonymous SNV L116V 0.79 0.807 0.799 294 928 310 0.754 235 384 130 95 116 2.659 40019 chr3 42133030 42133030 G A rs373134176 TRAK1 Synonymous SNV K23K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.886 40020 chr11 65319750 65319750 C T rs140740739 LTBP3 Synonymous SNV A438A 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Likely benign 20.2 40021 chr21 15974409 15974409 T C rs456067 LOC388813 Nonsynonymous SNV N84D 1 1 0.929 389 1174 384 0.997 273 587 192 136 194 5.764 40022 chr11 121489563 121489563 G A rs17125548 SORL1 Synonymous SNV K1895K 0.037 0.073 0.031 14 44 28 0.036 9 1 1 0 1 13.71 40023 chr3 42679497 42679497 C T rs35890296 NKTR Synonymous SNV S767S 0.106 0.138 0.116 36 125 53 0.092 34 7 1 1 1 5.018 40024 chr3 42679777 42679777 T G rs33969824 NKTR Nonsynonymous SNV L861V 0.105 0.133 0.116 37 123 51 0.095 34 7 1 1 1 0.002 40025 chr20 30659532 30659532 G A rs56029200 HCK Nonsynonymous SNV A23T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.016 40026 chr20 56185303 56185303 G A rs41275648 ZBP1 Nonsynonymous SNV A257V 0.078 0.07 0.071 29 92 27 0.074 21 1 2 1 1 15.83 40027 chr20 60989365 60989365 C T rs3810553 RBBP8NL Nonsynonymous SNV D348N 0.299 0.305 0.34 97 351 117 0.249 100 61 31 19 15 15.84 40028 chr20 47712930 47712930 G T rs35367415 CSE1L Nonsynonymous SNV Q901H 0.009 0.013 0.01 3 10 5 0.008 3 0 0 0 0 24.6 40029 chr21 22746187 22746187 T C rs232518 NCAM2 Nonsynonymous SNV L208P 0.344 0.315 0.347 118 404 121 0.303 102 75 15 18 21 18.29 40030 chr20 61050154 61050154 A G rs111554140 GATA5 Nonsynonymous SNV Y142H 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 Uncertain significance 24.6 40031 chr20 23066338 23066338 G C rs6048539 CD93 Synonymous SNV P164P 0.09 0.086 0.088 30 106 33 0.077 26 2 1 3 1 0.036 40032 chr20 31383238 31383238 G A rs150682895 DNMT3B Nonsynonymous SNV A288T 0.015 0.039 0.007 14 18 15 0.036 2 0 0 0 1 Benign 12.94 40033 chr20 56735759 56735759 A G rs17440813 C20orf85 Nonsynonymous SNV I99V 0.088 0.125 0.095 42 103 48 0.108 28 7 3 1 1 24 40034 chr3 42772038 42772038 A T rs12495805 CCDC13 Nonsynonymous SNV S547T 0.196 0.195 0.184 68 230 75 0.174 54 20 8 4 9 0.002 40035 chr3 42774148 42774148 C T rs7617368 CCDC13-AS1 0 0 0.17 0 0 0 0 50 0 0 4 0 4.039 40036 chr3 42787469 42787469 A G rs2240859 CCDC13 Synonymous SNV S257S 0.448 0.456 0.48 174 526 175 0.446 141 116 40 26 48 10.28 40037 chr20 3147744 3147744 G A rs151258888 LZTS3 Synonymous SNV A22A 0.025 0.029 0.01 11 29 11 0.028 3 0 0 0 0 6.181 40038 chr20 61288038 61288038 G A rs1047099 SLCO4A1 Nonsynonymous SNV V78I 0.216 0.227 0.197 84 253 87 0.215 58 28 9 7 5 8.793 40039 chr20 47874063 47874063 T C rs61729993 ZNFX1 Nonsynonymous SNV E852G 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 16.8 40040 chr20 61288355 61288355 G T rs3195701 SLCO4A1 Synonymous SNV G183G 0.215 0.224 0.201 83 252 86 0.213 59 28 9 7 5 0.088 40041 chr21 28338423 28338423 C G rs55933916 ADAMTS5 Synonymous SNV R96R 0.194 0.169 0.19 74 228 65 0.19 56 19 6 4 5 12.81 40042 chr20 57269495 57269495 G A rs7262862 NPEPL1 Synonymous SNV P118P 0.06 0.073 0.061 25 71 28 0.064 18 5 1 0 1 4.875 40043 chr1 983441 983441 G A rs148483856 AGRN Synonymous SNV A1267A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.348 40044 chr11 65631361 65631361 C T rs34891773 MUS81 Nonsynonymous SNV R351W 0.024 0.01 0.014 7 28 4 0.018 4 0 0 0 0 35 40045 chr20 25003705 25003705 A C rs41308619 ACSS1 Synonymous SNV V156V 0.026 0.021 0.02 8 30 8 0.021 6 0 1 0 0 0.007 40046 chr21 30357163 30357163 G T rs2245431 LTN1 Synonymous SNV P142P 0.111 0.091 0.122 51 130 35 0.131 36 6 2 2 5 6.595 40047 chr21 30698998 30698998 G A rs147272592 BACH1 Nonsynonymous SNV A285T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.467 40048 chr20 61944494 61944494 C T rs113242150 COL20A1 Nonsynonymous SNV T701M 0.013 0.008 0.003 6 15 3 0.015 1 0 0 0 0 10.07 40049 chr20 48808599 48808599 C G rs767096943 CEBPB Synonymous SNV G320G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.942 40050 chr21 30969901 30969901 T C rs363431 GRIK1-AS2 0.348 0.336 0.31 113 409 129 0.29 91 69 27 16 13 8.033 40051 chr20 57768222 57768222 G A rs61743775 ZNF831 Synonymous SNV R716R 0.055 0.049 0.01 11 65 19 0.028 3 1 2 0 0 0.342 40052 chr11 65650883 65650883 A G rs35841983 CTSW Synonymous SNV Q336Q 0.025 0.01 0.017 8 29 4 0.021 5 0 0 0 0 0.106 40053 chr21 31709691 31709691 G A rs2244485 KRTAP27-1 Nonsynonymous SNV A99V 0.424 0.411 0.395 155 498 158 0.397 116 103 32 25 26 9.541 40054 chr20 62373578 62373594 CCTGGGGTGCGGCGGGG - rs770734352 SLC2A4RG H225_G227delinsQ 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 40055 chr21 31744127 31744127 A T rs877346 KRTAP13-2 Stop gain C135X 0.424 0.409 0.388 153 498 157 0.392 114 103 32 23 26 34 40056 chr3 44943104 44943104 G C rs937838 TGM4 Nonsynonymous SNV S249T 0.12 0.13 0.133 59 141 50 0.151 39 8 2 1 6 23.5 40057 chr20 62492922 62492922 T A rs2281534 ABHD16B Nonsynonymous SNV L10Q 0.131 0.141 0.071 40 154 54 0.103 21 13 4 0 2 25.2 40058 chr20 62493978 62493978 G A rs74444574 ABHD16B Nonsynonymous SNV R362Q 0.131 0.141 0.075 40 154 54 0.103 22 13 4 0 2 0.203 40059 chr20 62494027 62494027 G C rs2236152 ABHD16B Synonymous SNV A378A 0.131 0.143 0.075 40 154 55 0.103 22 13 4 0 2 0.074 40060 chr20 62591460 62591460 G A rs45570933 ZNF512B Synonymous SNV P820P 0.068 0.07 0.048 21 80 27 0.054 14 2 0 0 0 9.355 40061 chr21 31874370 31874370 G A rs367860556 KRTAP19-5 Synonymous SNV Y13Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.047 40062 chr20 62187331 62187331 C T rs545581062 FNDC11 Synonymous SNV P105P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.269 40063 chr3 44948674 44948674 G C rs1395388 TGM4 Nonsynonymous SNV E437Q 0.084 0.063 0.078 28 99 24 0.072 23 7 0 1 0 0.001 40064 chr3 45017782 45017782 A G rs11547235 EXOSC7 Nonsynonymous SNV T5A 0.121 0.154 0.105 53 142 59 0.136 31 7 5 2 7 0.458 40065 chr20 62607160 62607160 C T rs817343 SAMD10 Synonymous SNV A157A 0.178 0.185 0.177 77 209 71 0.197 52 18 6 8 8 16.68 40066 chr20 5096099 5096099 G C rs17353 PCNA Synonymous SNV P234P 0.011 0.005 0.014 3 13 2 0.008 4 0 0 0 0 Benign 1.287 40067 chr20 62191907 62191907 G A rs35745161 HELZ2 Synonymous SNV H1906H 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.643 40068 chr20 62641605 62641605 G A rs41278236 PRPF6 Synonymous SNV L413L 0.004 0.026 0.003 9 5 10 0.023 1 0 0 0 0 Benign 10.82 40069 chr20 62850358 62850358 C T rs41279348 MYT1 Synonymous SNV L647L 0.112 0.102 0.082 41 131 39 0.105 24 6 3 2 1 12.04 40070 chr21 32201822 32201822 G T rs9982910 KRTAP7-1 Synonymous SNV G65G 0.397 0.414 0.384 176 466 159 0.451 113 98 29 17 37 1.623 40071 chr3 45077119 45077119 C T rs11545365 CLEC3B Synonymous SNV T62T 0.07 0.039 0.095 25 82 15 0.064 28 4 0 1 1 11.1 40072 chr21 32201835 32201835 A C rs9982675 KRTAP7-1 Nonsynonymous SNV I61S 0.397 0.414 0.384 176 466 159 0.451 113 98 29 17 37 10.69 40073 chr20 52192560 52192560 G A rs61730989 ZNF217 Nonsynonymous SNV P915S 0.009 0.003 0.007 5 11 1 0.013 2 0 0 0 0 8.502 40074 chr20 62896665 62896665 G A rs17878941 PCMTD2 Synonymous SNV P155P 0.146 0.164 0.112 68 171 63 0.174 33 14 5 1 4 6.26 40075 chr20 644648 644648 G A rs758222090 SCRT2 Synonymous SNV S197S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 10.19 40076 chr20 52192561 52192561 C A rs61730988 ZNF217 Nonsynonymous SNV E914D 0.009 0.003 0.007 5 11 1 0.013 2 0 0 0 0 21.3 40077 chr11 66109018 66109018 C T rs138145587 BRMS1 Synonymous SNV S72S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 19.22 40078 chr21 33068962 33068962 T C rs7280330 SCAF4 Synonymous SNV A278A 0.181 0.148 0.119 47 212 57 0.121 35 24 3 4 1 4.808 40079 chr21 33368188 33368188 T C rs2070371 HUNK Synonymous SNV L471L 0.675 0.651 0.667 250 793 250 0.641 196 271 82 66 82 0.728 40080 chr21 33370900 33370900 T C rs9305483 HUNK Synonymous SNV S516S 0.624 0.607 0.619 226 732 233 0.579 182 230 70 57 68 3.05 40081 chr20 744308 744308 T C rs3746802 SLC52A3 Nonsynonymous SNV I303V 0.078 0.083 0.054 20 92 32 0.051 16 5 1 0 0 Benign 22 40082 chr3 45267058 45267058 G A rs33750 TMEM158 Synonymous SNV T154T 0.105 0.078 0.279 64 123 30 0.164 82 42 13 24 21 10.72 40083 chr21 33371123 33371123 C T rs10775648 HUNK Nonsynonymous SNV R591C 0.222 0.214 0.224 70 261 82 0.179 66 30 9 10 7 29.1 40084 chr20 744382 744382 G A rs3746803 SLC52A3 Nonsynonymous SNV T278M 0.078 0.083 0.054 20 92 32 0.051 16 5 1 0 0 Benign 8.495 40085 chr20 62195666 62195666 G A rs116011482 HELZ2 Synonymous SNV S934S 0.091 0.086 0.058 33 107 33 0.085 17 3 1 0 0 7.24 40086 chr20 52788190 52788190 G T rs35873579 CYP24A1 Synonymous SNV R157R 0.03 0.023 0.041 10 35 9 0.026 12 0 0 0 0 Benign 11.43 40087 chr20 62195933 62195933 G A rs45463297 HELZ2 Synonymous SNV D845D 0.093 0.089 0.058 35 109 34 0.09 17 3 2 0 0 0.331 40088 chr20 52789885 52789885 A C rs61755338 CYP24A1 Synonymous SNV G78G 0.028 0.026 0.037 10 33 10 0.026 11 0 0 0 0 Likely benign 4.93 40089 chr20 52790005 52790005 C A rs61749689 CYP24A1 Synonymous SNV P38P 0.03 0.026 0.037 10 35 10 0.026 11 0 0 0 0 Likely benign 17.06 40090 chr20 746080 746080 G A rs151229044 SLC52A3 Synonymous SNV F113F 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 Benign/Likely benign 10.43 40091 chr20 746098 746098 G A rs3746808 SLC52A3 Synonymous SNV A107A 0.241 0.273 0.19 98 283 105 0.251 56 32 13 4 8 Benign 0.862 40092 chr3 45837886 45837886 G C rs2271615 SLC6A20 Nonsynonymous SNV A9G 0.253 0.253 0.289 93 297 97 0.238 85 36 10 16 10 Benign 19.54 40093 chr20 60509209 60509209 C T rs3753045 CDH4 Synonymous SNV G788G 0.284 0.24 0.279 108 333 92 0.277 82 48 7 12 10 14.59 40094 chr11 67206234 67206234 C T rs11601245 CORO1B Nonsynonymous SNV A418T 0.01 0.018 0.02 5 12 7 0.013 6 0 0 0 0 9.317 40095 chr20 8130943 8130943 C T rs16994453 PLCB1 Synonymous SNV D34D 0.13 0.148 0.146 48 153 57 0.123 43 16 3 6 1 Benign/Likely benign 14.11 40096 chr20 33865588 33865591 GGGG - MMP24OS P48Sfs*133 0.002 0.005 0 0 2 2 0 0 0 1 0 0 40097 chr21 34634878 34634878 G A rs1131668 IFNAR2 Nonsynonymous SNV A285T 0.338 0.307 0.313 136 397 118 0.349 92 87 26 20 29 Benign 2.723 40098 chr20 33865593 33865594 TG - MMP24OS Q47Afs*67 0.002 0.005 0 0 2 2 0 0 0 1 0 0 40099 chr20 62197370 62197370 G A rs34830600 HELZ2 Synonymous SNV C366C 0.101 0.112 0.068 36 118 43 0.092 20 5 2 0 0 6.44 40100 chr21 34860750 34860754 AATTA - rs139852262 DNAJC28 L316Cfs*12 0.255 0.219 0.259 98 299 84 0.251 76 39 13 7 12 40101 chr20 60768497 60768497 C T rs2236527 MTG2 Synonymous SNV F7F 0.102 0.122 0.143 38 120 47 0.097 42 7 2 3 2 10.18 40102 chr21 34883618 34883618 T C rs8971 GART Nonsynonymous SNV D752G 0.249 0.216 0.259 91 292 83 0.233 76 38 13 7 11 19.1 40103 chr20 8737734 8737734 G A rs2076413 PLCB1 Synonymous SNV A855A 0.338 0.313 0.337 123 397 120 0.315 99 67 20 17 20 Benign/Likely benign 8.755 40104 chr3 46245424 46245424 C T rs3136664 CCR1 Synonymous SNV L127L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 11.68 40105 chr3 46399798 46399798 T C rs1799865 CCR2 Synonymous SNV N260N 0.411 0.313 0.34 173 483 120 0.444 100 85 22 18 37 0.003 40106 chr3 46414467 46414467 T A rs751650495 CCR5 Nonsynonymous SNV V25E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 40107 chr20 8770822 8770822 C T rs2294597 PLCB1 Synonymous SNV L1113L 0.336 0.305 0.296 123 394 117 0.315 87 65 19 18 22 Benign 11.7 40108 chr20 62198686 62198686 G A rs3827025 HELZ2 Synonymous SNV C106C 0.1 0.112 0.075 36 117 43 0.092 22 5 2 1 0 8.859 40109 chr21 34924243 34924243 T C rs16990760 SON Synonymous SNV D902D 0.342 0.31 0.316 131 402 119 0.336 93 74 21 15 22 0.009 40110 chr20 62198713 62198713 G A rs3810490 HELZ2 Synonymous SNV I97I 0.101 0.112 0.068 36 118 43 0.092 20 5 2 0 0 10.39 40111 chr21 34924550 34924550 G T rs142482063 SON Nonsynonymous SNV A1005S 0.003 0 0 0 4 0 0 0 0 0 0 0 17.66 40112 chr20 60887468 60887468 G A rs16985970 LAMA5 Synonymous SNV T3116T 0.071 0.076 0.054 26 83 29 0.067 16 3 0 0 0 11.76 40113 chr20 941023 941023 G A rs745580942 RSPO4 Nonsynonymous SNV R166C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.9 40114 chr20 3515924 3515924 G A rs151518 ATRN Synonymous SNV V29V 0.213 0.234 0.296 99 250 90 0.254 87 49 21 16 18 10.7 40115 chr20 31473428 31473428 G A rs139861538 EFCAB8 Synonymous SNV S183S 0.01 0.01 0.003 4 12 4 0.01 1 0 0 0 0 9.421 40116 chr20 3515951 3515951 C T rs151519 ATRN Synonymous SNV Y38Y 0.238 0.271 0.299 107 279 104 0.274 88 50 22 16 18 9.946 40117 chr20 35422936 35422936 G T rs35707272 SOGA1 Synonymous SNV G1183G 0.186 0.133 0.153 55 218 51 0.141 45 20 4 2 3 0.084 40118 chr20 62200738 62200738 G A rs6089924 HELZ2 Nonsynonymous SNV A284V 0.101 0.112 0.068 36 118 43 0.092 20 5 2 0 0 0.012 40119 chr21 34925689 34925689 G A rs61739710 SON Synonymous SNV L1384L 0.335 0.297 0.31 124 393 114 0.318 91 70 21 14 21 4.73 40120 chr20 60898654 60898654 G A rs11696243 LAMA5 Synonymous SNV N1974N 0.008 0.021 0.017 1 9 8 0.003 5 0 0 1 0 6.013 40121 chr20 62200929 62200929 G A rs6089925 HELZ2 Synonymous SNV Y220Y 0.101 0.112 0.065 36 119 43 0.092 19 6 2 0 0 0.086 40122 chr20 31549044 31549044 A G rs76404073 EFCAB8 Nonsynonymous SNV I1166V 0.026 0.021 0.027 14 30 8 0.036 8 0 0 0 0 2.002 40123 chr20 56083763 56083763 G C rs6070122 CTCFL Nonsynonymous SNV Q381E 0.012 0.018 0.007 9 14 7 0.023 2 0 0 0 0 25.6 40124 chr3 46783664 46783664 - CCAAGG rs112576071 PRSS45P 0 0 0.15 0 0 0 0 44 0 0 3 0 40125 chr3 46783757 46783757 T G rs57661142 PRSS45P 0 0 0.153 0 0 0 0 45 0 0 3 0 1.313 40126 chr20 3624848 3624848 C T rs34398666 ATRN Synonymous SNV A1366A 0.117 0.148 0.146 44 137 57 0.113 43 5 9 4 1 21.4 40127 chr3 46795236 46795236 - G rs112177175 PRSS43P 0 0 0.109 0 0 0 0 32 0 0 4 0 40128 chr21 16339172 16339172 G C rs2229742 NRIP1 Nonsynonymous SNV R448G 0.096 0.091 0.088 39 113 35 0.1 26 5 1 0 4 25.9 40129 chr3 46795237 46795237 T C rs58738330 PRSS43P 0 0 0.112 0 0 0 0 33 0 0 4 0 2.585 40130 chr20 60901762 60901762 C T rs11699758 LAMA5 Nonsynonymous SNV V1757I 0.008 0.021 0.017 1 9 8 0.003 5 0 0 1 0 0.676 40131 chr3 46852858 46852858 A G rs80252430 PRSS44P 0 0 0.146 0 0 0 0 43 0 0 1 0 0.413 40132 chr3 46944274 46944274 T C rs1138518 PTH1R Synonymous SNV N463N 0.528 0.529 0.571 203 620 203 0.521 168 164 47 54 49 Benign 0.134 40133 chr20 60902402 60902402 G A rs13039398 LAMA5 Nonsynonymous SNV R1667W 0.008 0.021 0.017 1 9 8 0.003 5 0 0 1 0 17.69 40134 chr21 35821821 35821821 T C rs1805127 KCNE1, KCNE1B Nonsynonymous SNV S38G 0.603 0.586 0.65 236 708 225 0.605 191 206 66 62 70 Benign 0.003 40135 chr21 17203785 17203785 A T rs2297248 USP25 Synonymous SNV A610A 0.109 0.112 0.071 39 128 43 0.1 21 6 2 0 0 1.929 40136 chr21 35890409 35890409 C T rs59601528 RCAN1 Synonymous SNV P163P 0.085 0.055 0.075 45 100 21 0.115 22 4 0 2 3 17.71 40137 chr3 47043538 47043538 C T rs2305634 NBEAL2 Synonymous SNV S1603S 0.526 0.505 0.52 196 617 194 0.503 153 165 47 47 45 Benign 4.959 40138 chr21 37408526 37408526 T A rs140814445 SETD4 Nonsynonymous SNV K404N 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 7.618 40139 chr3 47045739 47045739 C G rs1079276 NBEAL2 Synonymous SNV P1984P 0.525 0.505 0.52 196 616 194 0.503 153 164 47 47 45 Benign 0.996 40140 chr20 36641202 36641202 T C rs747951667 TTI1 Synonymous SNV L339L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.566 40141 chr21 19651357 19651357 A G rs17698445 TMPRSS15 Synonymous SNV C896C 0.142 0.135 0.119 65 167 52 0.167 35 18 6 3 8 4.05 40142 chr3 47125385 47125385 G A rs4082155 SETD2 Nonsynonymous SNV P1918L 0.526 0.5 0.52 199 617 192 0.51 153 165 46 47 47 Benign 12.14 40143 chr21 37507501 37507501 G A rs8133052 CBR3 Nonsynonymous SNV C4Y 0.435 0.469 0.452 174 511 180 0.446 133 117 43 35 33 15.39 40144 chr20 56185209 56185209 G A rs41275646 ZBP1 Synonymous SNV D288D 0.009 0.016 0.014 12 11 6 0.031 4 0 0 0 0 3.171 40145 chr20 1638293 1638293 A T rs139502650 SIRPG Nonsynonymous SNV L23H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.43 40146 chr3 47162661 47162661 A G rs6767907 SETD2 Synonymous SNV N1111N 0.555 0.523 0.558 206 651 201 0.528 164 185 51 50 49 Benign 0.092 40147 chr20 62407104 62407104 C T rs3827026 ZBTB46 Synonymous SNV L383L 0.176 0.159 0.17 63 207 61 0.162 50 27 5 3 7 12.76 40148 chr3 47282303 47282303 G A rs2276853 KIF9 Nonsynonymous SNV R573W 0.526 0.505 0.503 200 618 194 0.513 148 166 45 47 48 32 40149 chr21 37507769 37507769 C T rs881712 CBR3 Synonymous SNV V93V 0.418 0.451 0.415 168 491 173 0.431 122 111 38 28 29 16.35 40150 chr20 62595547 62595547 C T rs6062599 ZNF512B Nonsynonymous SNV A453T 0.119 0.104 0.133 54 140 40 0.138 39 12 0 3 3 15.29 40151 chr20 62595990 62595990 T C rs817326 ZNF512B Nonsynonymous SNV M372V 0.13 0.133 0.139 65 153 51 0.167 41 15 1 4 5 0.001 40152 chr3 47452786 47452786 G A rs1531875 PTPN23 Synonymous SNV E1040E 0.519 0.503 0.534 195 609 193 0.5 157 162 47 50 44 1.44 40153 chr21 37602805 37602805 G A rs776385915 DOP1B Nonsynonymous SNV G575S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.92 40154 chr20 62597666 62597666 C T rs45486695 ZNF512B Nonsynonymous SNV V288M 0.116 0.099 0.129 53 136 38 0.136 38 12 0 3 3 11.52 40155 chr3 47459679 47459679 C T rs12487736 SCAP Nonsynonymous SNV V543I 0.514 0.484 0.531 192 603 186 0.492 156 156 42 49 42 11.95 40156 chr21 37602806 37602806 G T DOP1B Nonsynonymous SNV G575V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.193 40157 chr21 27852724 27852724 A G rs966410 CYYR1 Synonymous SNV V67V 0.373 0.346 0.473 148 438 133 0.379 139 81 23 40 34 0.156 40158 chr3 47712202 47712202 T C rs1141601 SMARCC1 Synonymous SNV K615K 0.273 0.247 0.235 98 320 95 0.251 69 45 13 11 16 3.837 40159 chr21 28210854 28210854 C T rs56251528 ADAMTS1 Nonsynonymous SNV R703H 0.074 0.081 0.092 20 87 31 0.051 27 4 1 2 0 23 40160 chr21 37692589 37692589 A T rs2236433 MORC3 Synonymous SNV I9I 0.196 0.211 0.129 58 230 81 0.149 38 19 11 2 2 14.95 40161 chr21 37833751 37833751 G A rs219779 CLDN14 Synonymous SNV R81R 0.235 0.219 0.245 101 276 84 0.259 72 37 9 8 19 Benign 4.31 40162 chr21 37833983 37833983 G A rs113831133 CLDN14 Nonsynonymous SNV T4M 0.037 0.031 0.037 13 44 12 0.033 11 0 0 0 1 Benign/Likely benign 6.269 40163 chr3 48506305 48506305 G A rs72556553 ATRIP Nonsynonymous SNV D684N 0.022 0.013 0.01 5 26 5 0.013 3 1 0 0 0 Likely benign 9.974 40164 chr20 33582046 33582046 C T rs186471205 MYH7B Nonsynonymous SNV R890C 0.017 0.031 0.014 8 20 12 0.021 4 0 1 0 0 34 40165 chr3 4856234 4856234 G A rs901854 ITPR1 Synonymous SNV K2500K 0.644 0.583 0.616 253 756 224 0.649 181 248 67 55 81 Benign 14.33 40166 chr3 48677530 48677530 C T rs144112915 CELSR3 Nonsynonymous SNV R3163Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 40167 chr21 28305212 28305212 C T rs2830585 ADAMTS5 Nonsynonymous SNV R614H 0.171 0.156 0.15 66 201 60 0.169 44 17 7 2 9 35 40168 chr3 4940289 4940289 G - rs11363851 BHLHE40-AS1 0 0 0.949 0 0 0 0 279 0 0 139 0 40169 chr20 57429447 57429447 C T rs61749697 GNAS Nonsynonymous SNV R314W 0.058 0.039 0.027 25 68 15 0.064 8 2 1 0 1 not provided 22.2 40170 chr3 4942300 4942300 T C rs3762783 BHLHE40-AS1 0 0 0.459 0 0 0 0 135 0 0 27 0 1.261 40171 chr21 38525356 38525356 T C rs1053808 TTC3 Nonsynonymous SNV M118T 0.497 0.5 0.442 185 584 192 0.474 130 142 48 35 37 0.01 40172 chr21 38563686 38563686 G C rs61748840 TTC3 Nonsynonymous SNV L970F 0.037 0.036 0.027 16 43 14 0.041 8 3 1 0 1 8.789 40173 chr20 61386231 61386231 C T rs6010685 NTSR1 Synonymous SNV R303R 0.056 0.068 0.061 15 66 26 0.038 18 4 1 0 0 13 40174 chr20 57564070 57564070 C T rs2273360 NELFCD Synonymous SNV T166T 0.147 0.138 0.119 49 173 53 0.126 35 11 4 4 1 18.28 40175 chr21 38563725 38563725 G A rs2835655 TTC3 Synonymous SNV K983K 0.307 0.313 0.357 110 361 120 0.282 105 74 23 20 19 11.03 40176 chr20 61512185 61512185 G C rs41282984 DIDO1 Nonsynonymous SNV S1708C 0.116 0.112 0.061 29 136 43 0.074 18 10 1 1 2 5.366 40177 chr20 36974945 36974945 C T rs2232580 LBP Nonsynonymous SNV P9L 0.084 0.089 0.082 33 99 34 0.085 24 2 4 1 0 10.29 40178 chr20 57581385 57581385 G C CTSZ Nonsynonymous SNV A100G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 40179 chr20 896753 896753 T G rs17702306 ANGPT4 Synonymous SNV T35T 0.053 0.057 0.017 21 62 22 0.054 5 2 1 0 1 0.187 40180 chr3 49947766 49947766 T C rs139967875 MON1A Nonsynonymous SNV T324A 0.009 0.016 0.014 2 10 6 0.005 4 0 0 0 0 14.9 40181 chr20 61513649 61513649 G T rs6011441 DIDO1 Nonsynonymous SNV P1220Q 0.137 0.122 0.075 33 161 47 0.085 22 13 4 1 3 1.463 40182 chr20 36982754 36982754 G A rs36015492 LBP Nonsynonymous SNV E147K 0.018 0.016 0.017 4 21 6 0.01 5 0 0 0 0 26.8 40183 chr20 944702 944702 G A rs41275604 RSPO4 Synonymous SNV C157C 0.026 0.031 0.017 11 30 12 0.028 5 0 1 0 0 3.403 40184 chr20 34090979 34090979 G A rs41290924 CEP250 Synonymous SNV T962T 0.02 0.039 0.007 9 23 15 0.023 2 0 1 0 0 Benign 8.334 40185 chr20 58545197 58545197 C A rs144755899 CDH26 Nonsynonymous SNV L63M 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 26.3 40186 chr20 982796 982796 T G rs150446609 RSPO4 Synonymous SNV P4P 0.024 0.039 0.02 11 28 15 0.028 6 0 1 1 0 12.58 40187 chr20 34797801 34797801 C T rs73101499 EPB41L1 Nonsynonymous SNV P613L 0.037 0.073 0.024 14 43 28 0.036 7 0 2 0 0 Likely benign 24.3 40188 chr20 58581800 58581800 C G rs7267644 CDH26 Synonymous SNV L43L 0.011 0.005 0.02 3 13 2 0.008 6 0 0 0 0 3.035 40189 chr21 31062070 31062070 T G rs363538 GRIK1 Synonymous SNV T118T 0.119 0.122 0.085 38 140 47 0.097 25 6 1 2 2 3.567 40190 chr11 125864206 125864206 T C rs115533243 CDON Nonsynonymous SNV S875G 0.017 0.034 0.02 8 20 13 0.021 6 0 1 0 0 Benign/Likely benign 23.8 40191 chr21 40549466 40549466 T C rs14194 PSMG1 Synonymous SNV P208P 0.4 0.362 0.347 147 470 139 0.377 102 106 29 21 24 5.502 40192 chr20 37378721 37378721 G A rs34862565 ACTR5 Nonsynonymous SNV M148I 0.021 0.016 0.024 6 25 6 0.015 7 0 0 0 0 24.3 40193 chr11 71260047 71260047 G T rs117137984 KRTAP5-9 Nonsynonymous SNV C115F 0.013 0.008 0.02 9 15 3 0.023 6 0 0 0 0 18.61 40194 chr20 3541382 3541382 T C rs17782078 ATRN Nonsynonymous SNV I310T 0.067 0.068 0.037 20 79 26 0.051 11 4 1 0 0 18.12 40195 chr20 35467668 35467668 G A rs779752575 SOGA1 Synonymous SNV T288T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.25 40196 chr3 51747264 51747264 C T rs747024908 GRM2 Nonsynonymous SNV A31V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 40197 chr21 40652142 40652142 G A rs2836972 BRWD1 Synonymous SNV Y288Y 0.405 0.365 0.354 148 475 140 0.379 104 107 29 22 24 7.06 40198 chr20 5948227 5948227 G A rs16991615 MCM8 Nonsynonymous SNV E341K 0.083 0.115 0.041 54 98 44 0.138 12 5 2 0 6 20.8 40199 chr20 3577062 3577062 G A rs3886999 ATRN Nonsynonymous SNV R1036K 0.069 0.068 0.037 20 81 26 0.051 11 5 1 0 0 18.4 40200 chr21 40871810 40871810 T C rs9974333 SH3BGR, WRB-SH3BGR Nonsynonymous SNV V77A 0.587 0.591 0.558 191 689 227 0.49 164 196 66 47 42 0.004 40201 chr3 51908430 51908430 T C rs6794320 IQCF5-AS1 0 0 0.997 0 0 0 0 293 0 0 146 0 2.61 40202 chr3 51929183 51929183 C T rs11927897 IQCF1 Nonsynonymous SNV R114Q 0.07 0.094 0.085 41 82 36 0.105 25 3 1 0 3 23.1 40203 chr11 72469654 72469654 T C STARD10 Nonsynonymous SNV N127S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.3 40204 chr20 35882698 35882698 G A rs4988492 GHRH Nonsynonymous SNV L75F 0.026 0.049 0.02 16 31 19 0.041 6 0 0 0 0 2.76 40205 chr21 40883671 40883671 - AGA rs111921581 SH3BGR, WRB-SH3BGR E201_P202insE 0.617 0.62 0.595 203 724 238 0.521 175 215 73 53 49 40206 chr11 128651893 128651893 A G rs35195224 FLI1 Synonymous SNV Q17Q 0.055 0.044 0.075 15 65 17 0.038 22 1 0 2 0 6.868 40207 chr20 61992467 61992467 C T rs79739740 CHRNA4 Synonymous SNV L17L 0.017 0.005 0.037 9 20 2 0.023 11 1 0 0 2 Benign 9.657 40208 chr11 128709126 128709126 A G rs59172778 KCNJ1 Nonsynonymous SNV M357T 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 Benign 10.49 40209 chr20 62172219 62172219 G A rs6122130 SRMS Synonymous SNV F473F 0.244 0.242 0.214 80 287 93 0.205 63 43 11 6 3 8.393 40210 chr21 32253629 32253629 C T rs71321355 KRTAP11-1 Nonsynonymous SNV R72Q 0.227 0.268 0.231 87 266 103 0.223 68 32 13 8 8 13.02 40211 chr20 62173562 62173562 G T rs56130722 SRMS Synonymous SNV I300I 0.242 0.242 0.214 80 284 93 0.205 63 42 11 6 3 8.389 40212 chr21 32493031 32493031 A G rs762194 TIAM1 Synonymous SNV G510G 0.371 0.401 0.452 155 436 154 0.397 133 72 26 29 28 13.28 40213 chr20 62174724 62174724 G A rs4809309 SRMS Synonymous SNV Y196Y 0.242 0.24 0.207 78 284 92 0.2 61 42 11 6 3 0.024 40214 chr20 41420095 41420095 T C rs17811401 PTPRT Nonsynonymous SNV M76V 0.014 0.018 0.014 0 16 7 0 4 0 0 0 0 10.73 40215 chr21 33068937 33068937 C A rs78537042 SCAF4 Nonsynonymous SNV V287L 0.082 0.089 0.095 27 96 34 0.069 28 4 2 3 0 2.935 40216 chr21 42717662 42717662 T C rs417708 FAM3B Synonymous SNV G84G 0.871 0.896 0.616 344 1023 344 0.882 181 451 157 82 153 0.179 40217 chr3 5229643 5229643 C T rs144177905 EDEM1 Synonymous SNV G51G 0.031 0.036 0.034 17 36 14 0.044 10 2 0 0 1 23.2 40218 chr20 62187807 62187807 C T rs141589815 FNDC11 Nonsynonymous SNV A264V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 40219 chr21 27056250 27056250 A G rs8133602 JAM2 Synonymous SNV V41V 0.078 0.091 0.088 29 91 35 0.074 26 6 3 1 0 7.151 40220 chr3 52407041 52407041 C T rs1546737 DNAH1 Synonymous SNV H2319H 0.343 0.349 0.303 136 403 134 0.349 89 76 22 10 22 Benign 16.17 40221 chr20 3672610 3672610 C T rs144731228 SIGLEC1 Nonsynonymous SNV V1424I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 40222 chr21 27372478 27372478 G A rs199890425 APP Synonymous SNV A239A 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.75 40223 chr11 128993344 128993344 T C rs201676073 ARHGAP32 Nonsynonymous SNV I133M 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 25 40224 chr21 42824733 42824733 G A rs469304 MX1 Synonymous SNV Q565Q 0.47 0.487 0.466 181 552 187 0.464 137 125 42 30 36 0.384 40225 chr11 129727255 129727255 G A rs78733006 TMEM45B Synonymous SNV Q206Q 0.051 0.06 0.065 22 60 23 0.056 19 2 1 1 0 8.138 40226 chr20 60901986 60901986 G A rs875379 LAMA5 Nonsynonymous SNV H1717Y 0.079 0.083 0.048 22 93 32 0.056 14 2 0 0 0 18.73 40227 chr20 19937312 19937312 G A rs142502440 RIN2 Nonsynonymous SNV C71Y 0.042 0.052 0.065 18 49 20 0.046 19 0 0 0 0 Benign 11.81 40228 chr20 42885934 42885934 A G rs200536903 GDAP1L1 Nonsynonymous SNV I108V 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 21.1 40229 chr20 3679928 3679928 G A rs74423567 SIGLEC1 Synonymous SNV D569D 0.061 0.042 0.044 17 72 16 0.044 13 2 0 2 0 1.401 40230 chr20 60902389 60902389 G A rs944893 LAMA5 Nonsynonymous SNV T1671M 0.071 0.076 0.048 19 83 29 0.049 14 2 0 0 0 6.976 40231 chr21 34442676 34442676 - CCT rs552498250 OLIG1 S48_T49insS 0.04 0.042 0.003 23 47 16 0.059 1 2 0 0 1 40232 chr20 3682242 3682242 C T rs45472900 SIGLEC1 Synonymous SNV A425A 0.06 0.044 0.048 19 71 17 0.049 14 2 0 2 0 14.24 40233 chr20 42965863 42965863 C T rs3746570 R3HDML Synonymous SNV N22N 0.176 0.227 0.201 84 207 87 0.215 59 21 14 8 8 8.962 40234 chr3 52546403 52546403 C A rs140050809 STAB1 Nonsynonymous SNV P977H 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Likely benign 31 40235 chr21 43327117 43327117 C T rs2277795 C2CD2 Synonymous SNV A279A 0.267 0.284 0.259 105 314 109 0.269 76 45 13 9 14 17.95 40236 chr21 43327793 43327793 C T rs3746904 C2CD2 Synonymous SNV S218S 0.35 0.336 0.398 146 411 129 0.374 117 75 20 22 28 12.81 40237 chr11 74413872 74413872 A G rs34528207 CHRDL2 Synonymous SNV L298L 0.155 0.109 0.136 65 182 42 0.167 40 15 4 4 6 0.211 40238 chr21 30699557 30699557 G C rs35766001 BACH1 Nonsynonymous SNV G471A 0.019 0.029 0.017 10 22 11 0.026 5 0 0 0 0 15.21 40239 chr21 43510514 43510514 C G rs2839464 UMODL1 Synonymous SNV A299A 0.365 0.365 0.327 136 429 140 0.349 96 91 26 16 21 2.675 40240 chr21 34927397 34927417 AGCCGCCGCAGCCGCACCCCC - SON S1992_R1998del 0.03 0.016 0.071 14 35 6 0.036 21 1 1 1 1 40241 chr20 6090969 6090969 A G rs55666319 FERMT1 Nonsynonymous SNV V241A 0.075 0.068 0.054 25 88 26 0.064 16 4 1 0 0 Benign 18.89 40242 chr3 52567617 52567617 A G rs66782572 NT5DC2 Nonsynonymous SNV V46A 0.223 0.234 0.51 122 262 90 0.313 150 113 41 45 48 0.002 40243 chr21 31587793 31587793 A G rs686364 CLDN8 Nonsynonymous SNV S151P 0.316 0.339 0.32 146 371 130 0.374 94 68 21 16 24 0.26 40244 chr20 36869005 36869005 G A rs41282820 KIAA1755 Stop gain R510X 0.024 0.026 0.003 9 28 10 0.023 1 0 0 0 1 32 40245 chr21 34971474 34971474 T C rs61735780 CRYZL1 Nonsynonymous SNV I220V 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 23.4 40246 chr3 52584787 52584787 T C rs2251219 PBRM1 Synonymous SNV P1497P 0.398 0.391 0.449 170 467 150 0.436 132 104 36 32 36 5.789 40247 chr21 31661653 31661653 A G rs2832759 KRTAP25-1 Synonymous SNV G52G 0.143 0.185 0.16 77 168 71 0.197 47 15 11 3 6 0.167 40248 chr20 36940314 36940314 C T rs5743509 BPI Nonsynonymous SNV A196V 0.068 0.102 0.037 15 80 39 0.038 11 3 0 0 1 Benign 10.21 40249 chr20 21377053 21377053 A G NKX2-4 Synonymous SNV A187A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 3.188 40250 chr20 22563025 22563025 T C rs1203910 FOXA2 Synonymous SNV G285G 0.074 0.102 0.054 39 87 39 0.1 16 2 5 2 0 0.002 40251 chr20 22563571 22563571 G A rs1800847 FOXA2 Synonymous SNV A103A 0.067 0.104 0.048 42 79 40 0.108 14 2 5 2 0 10.37 40252 chr21 35468022 35468022 C T rs367913360 SLC5A3 Synonymous SNV T175T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.35 40253 chr21 31744310 31744310 G C rs3804010 KRTAP13-2 Nonsynonymous SNV S74R 0.114 0.133 0.129 70 134 51 0.179 38 8 3 1 5 0.004 40254 chr21 43547873 43547873 G A rs220159 UMODL1 Nonsynonymous SNV D1264N 0.373 0.396 0.374 153 438 152 0.392 110 81 30 19 34 7.217 40255 chr3 52825585 52825585 T C rs9324 ITIH1 Synonymous SNV S561S 0.379 0.346 0.384 156 445 133 0.4 113 81 27 25 28 0.262 40256 chr21 43557559 43557559 T A rs3819141 UMODL1 Synonymous SNV P1318P 0.422 0.406 0.361 165 496 156 0.423 106 101 32 16 34 0.064 40257 chr21 43557698 43557698 A C rs3819142 UMODL1 Nonsynonymous SNV N1365H 0.198 0.188 0.211 80 233 72 0.205 62 18 3 3 5 14.95 40258 chr21 43557736 43557776 GCAGGCTGACAGGAAGGTGGGTGCGGAGTGGGGTGGGAGGT - rs763968475 UMODL1 0.189 0.18 0.184 74 222 69 0.19 54 18 3 3 5 40259 chr3 52852538 52852538 G T rs4687657 ITIH4 Nonsynonymous SNV P668T 0.292 0.25 0.327 108 343 96 0.277 96 50 12 16 9 8.514 40260 chr20 44420682 44420682 T C rs2664591 DNTTIP1 Synonymous SNV P13P 0.278 0.266 0.544 134 326 102 0.344 160 144 46 57 59 7.687 40261 chr3 52860936 52860936 C T rs2276817 ITIH4 Synonymous SNV V130V 0.234 0.198 0.265 91 275 76 0.233 78 40 8 9 8 15.54 40262 chr3 52861211 52861211 A T rs13072536 ITIH4 Nonsynonymous SNV I85N 0.234 0.195 0.262 91 275 75 0.233 77 40 8 9 8 24.3 40263 chr20 61472073 61472073 C A rs1048100 COL9A3 Synonymous SNV R682R 0.082 0.096 0.143 49 96 37 0.126 42 5 1 0 3 Benign 15.5 40264 chr20 3842984 3842984 C T rs2326369 MAVS Synonymous SNV D42D 0.064 0.07 0.058 29 75 27 0.074 17 0 1 1 1 13.36 40265 chr3 52880492 52880492 T C rs4687671 MIR8064 0 0 0.983 0 0 0 0 289 0 0 142 0 1.691 40266 chr21 33711033 33711033 G - URB1 P1498Rfs*5 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 40267 chr3 52880543 52880543 G A rs4687672 MIR8064 0 0 0.269 0 0 0 0 79 0 0 9 0 3.603 40268 chr20 61477177 61477177 T C rs57610632 DPH3P1 Synonymous SNV I54I 0.049 0.06 0.088 38 58 23 0.097 26 1 0 0 2 5.412 40269 chr3 53126511 53126511 C T rs139487607 RFT1 Synonymous SNV T444T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 18.05 40270 chr3 53213657 53213657 T C rs2230493 PRKCD Synonymous SNV D79D 0.147 0.135 0.133 68 172 52 0.174 39 18 2 1 7 Benign 0.041 40271 chr20 61491494 61491494 T C rs17854409 TCFL5 Nonsynonymous SNV N272D 0.082 0.096 0.136 49 96 37 0.126 40 4 1 0 3 19.45 40272 chr21 34059352 34059352 T C rs2254562 SYNJ1 Nonsynonymous SNV K295R 0.313 0.341 0.357 143 368 131 0.367 105 62 25 22 23 Benign 26.9 40273 chr21 44189166 44189166 T C rs1045382 PDE9A Synonymous SNV P280P 0.33 0.305 0.333 117 388 117 0.3 98 62 13 19 19 1.112 40274 chr20 39792398 39792398 C T rs747549422 PLCG1 Nonsynonymous SNV S312L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.92 40275 chr21 44189172 44189172 A C rs3087994 PDE9A Synonymous SNV A282A 0.33 0.305 0.333 117 387 117 0.3 98 61 13 19 19 0.19 40276 chr12 427428 427428 G A rs373590748 KDM5A Nonsynonymous SNV P914L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 24.2 40277 chr21 44293744 44293744 C G rs2248490 WDR4 Nonsynonymous SNV K71N 0.452 0.396 0.418 157 531 152 0.403 123 109 30 28 33 21.6 40278 chr21 44323461 44323461 G A rs4148972 NDUFV3 Synonymous SNV P113P 0.084 0.083 0.065 29 99 32 0.074 19 5 0 0 0 7.836 40279 chr20 61525253 61525253 C T rs143952489 DIDO1 Nonsynonymous SNV G956R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 40280 chr21 44323590 44323590 T G rs4148973 NDUFV3 Synonymous SNV S156S 0.549 0.474 0.503 194 645 182 0.497 148 161 40 38 49 1.147 40281 chr20 44641982 44641982 - A rs765108149 MMP9 Frameshift insertion T474Nfs*71 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 40282 chr12 520976 520976 A G rs35234577 CCDC77 Synonymous SNV A2A 0.013 0.003 0.007 4 15 1 0.01 2 0 0 0 0 1.039 40283 chr3 53804489 53804489 C T rs17053501 CACNA1D Synonymous SNV F1303F 0.06 0.063 0.051 28 71 24 0.072 15 4 1 0 2 Benign 12.66 40284 chr21 44324365 44324365 G A rs10595 NDUFV3 Nonsynonymous SNV D415N 0.549 0.474 0.503 194 645 182 0.497 148 159 41 38 50 10.12 40285 chr3 53857676 53857676 C T rs17053532 CHDH Synonymous SNV L120L 0.2 0.216 0.19 77 235 83 0.197 56 24 8 7 10 14.75 40286 chr20 62737888 62737888 G A rs41278242 NPBWR2 Synonymous SNV P99P 0.037 0.013 0.034 7 44 5 0.018 10 1 0 0 0 2.066 40287 chr21 44480616 44480616 G A rs1801181 CBS, CBSL Synonymous SNV A255A 0.348 0.336 0.32 131 409 129 0.336 94 78 17 18 19 Benign 10.45 40288 chr20 62871232 62871232 C T rs3003149 MYT1 Synonymous SNV L1071L 0.146 0.122 0.136 59 171 47 0.151 40 9 1 2 6 17.56 40289 chr20 61588865 61588865 C T rs76379118 SLC17A9 Synonymous SNV L110L 0.078 0.057 0.041 28 91 22 0.072 12 6 0 0 0 11.12 40290 chr3 53886912 53886912 C T rs3733075 IL17RB Synonymous SNV Y123Y 0.269 0.276 0.357 89 316 106 0.228 105 51 14 16 8 1.091 40291 chr3 53905308 53905308 T C rs1046677 ACTR8 Synonymous SNV G506G 0.424 0.427 0.5 143 498 164 0.367 147 112 35 37 22 2.821 40292 chr20 61834092 61834092 G A rs41282994 YTHDF1 Synonymous SNV D400D 0.124 0.133 0.116 49 145 51 0.126 34 10 3 2 5 0.338 40293 chr21 40177325 40177325 G A rs73450548 ETS2 Nonsynonymous SNV A19T 0.141 0.117 0.15 56 165 45 0.144 44 10 2 3 3 8.829 40294 chr3 53906513 53906513 G A rs4687757 ACTR8 Synonymous SNV I400I 0.425 0.427 0.5 145 499 164 0.372 147 113 35 37 23 13.93 40295 chr20 61867454 61867454 A G rs6011691 BIRC7 Synonymous SNV G2G 0.121 0.122 0.126 42 142 47 0.108 37 10 4 3 2 0.768 40296 chr21 44838908 44838908 G A rs28510483 SIK1, SIK1B Synonymous SNV T485T 0.019 0.013 0.01 3 22 5 0.008 3 0 0 0 0 Benign 8.893 40297 chr20 61875390 61875390 T C rs780536321 NKAIN4 Nonsynonymous SNV E111G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 40298 chr21 44840138 44840138 G A rs17004546 SIK1, SIK1B Synonymous SNV G316G 0.03 0.034 0.037 13 35 13 0.033 11 0 0 0 1 Benign 10.87 40299 chr3 54919351 54919351 A G rs10510774 CACNA2D3 Synonymous SNV E652E 0.086 0.099 0.099 46 101 38 0.118 29 2 2 1 1 14.29 40300 chr3 54928762 54928762 G C rs1526594 CACNA2D3-AS1 0 0 0.15 0 0 0 0 44 0 0 4 0 1.052 40301 chr20 45318042 45318042 G A rs2664523 TP53RK Synonymous SNV A4A 0.061 0.091 0.071 43 72 35 0.11 21 6 6 1 6 7.791 40302 chr3 54930699 54930699 A T rs6445708 CACNA2D3-AS1 0.157 0.19 0.143 72 184 73 0.185 42 18 5 4 8 1.478 40303 chr20 25261667 25261667 A G rs142812907 PYGB Nonsynonymous SNV N441S 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 25.6 40304 chr3 54930773 54930773 A G rs17253119 CACNA2D3-AS1 0.057 0.068 0.058 33 67 26 0.085 17 1 0 1 1 7.358 40305 chr3 54930794 54930794 C T rs17054524 CACNA2D3 Synonymous SNV G755G 0.156 0.19 0.143 70 183 73 0.179 42 18 5 4 8 11.16 40306 chr20 4680095 4680118 CATGGTGGTGGCTGGGGACAGCCT - rs138688873 PRNP P84_Q91del 0.012 0.005 0.003 5 14 2 0.013 1 0 0 0 0 40307 chr20 9496716 9496716 C G rs2232264 LAMP5 Nonsynonymous SNV Q103E 0.102 0.083 0.102 32 120 32 0.082 30 7 0 1 1 8.655 40308 chr21 45219524 45219524 T C rs4566449 RRP1 Synonymous SNV V295V 0.299 0.313 0.143 126 351 120 0.323 42 48 31 11 24 0.03 40309 chr3 56658871 56658871 T C rs2291498 TASOR Nonsynonymous SNV I998V 0.147 0.12 0.139 67 172 46 0.172 41 13 2 2 8 6.324 40310 chr20 9520142 9520142 G A rs12329540 PAK5 Synonymous SNV I709I 0.077 0.057 0.075 23 90 22 0.059 22 6 0 0 3 17.89 40311 chr3 56667213 56667213 T C rs34828128 TASOR Synonymous SNV Q765Q 0.033 0.026 0.031 19 39 10 0.049 9 0 1 0 2 0.03 40312 chr12 1481021 1481021 A G rs147847605 ERC1 Nonsynonymous SNV I935V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 26.9 40313 chr21 45502844 45502844 T G rs915877 TRAPPC10 Nonsynonymous SNV I166M 0.069 0.107 0.075 32 81 41 0.082 22 4 1 0 1 1.005 40314 chr21 45506819 45506819 T C rs1131999 TRAPPC10 Synonymous SNV A372A 0.191 0.219 0.211 69 224 84 0.177 62 22 10 6 4 0.009 40315 chr3 56763525 56763525 A G rs1009118 ARHGEF3 Synonymous SNV L458L 0.212 0.159 0.19 85 249 61 0.218 56 24 3 7 13 0.149 40316 chr3 56763619 56763619 A G rs6765444 ARHGEF3 Synonymous SNV N426N 0.211 0.159 0.19 85 248 61 0.218 56 23 3 7 13 0.133 40317 chr21 37420650 37420650 G A rs8738 SETD4 Synonymous SNV T84T 0.086 0.109 0.088 41 101 42 0.105 26 5 3 4 1 10.62 40318 chr3 56766435 56766435 C G rs3732511 ARHGEF3 Synonymous SNV L359L 0.187 0.141 0.173 78 219 54 0.2 51 19 3 6 11 12.54 40319 chr21 42622786 42622786 C T rs1046210 BACE2 Synonymous SNV D364D 0.432 0.367 0.408 156 507 141 0.4 120 106 24 19 31 12.26 40320 chr21 37442632 37442632 G C rs25678 CBR1 Synonymous SNV L73L 0.116 0.138 0.143 58 136 53 0.149 42 10 3 6 2 16.89 40321 chr21 42694870 42694870 G A rs2838012 FAM3B Nonsynonymous SNV V14M 0.099 0.128 0.088 55 116 49 0.141 26 4 3 1 5 11.53 40322 chr21 37444120 37444120 C T rs35710857 CBR1 Synonymous SNV C135C 0.08 0.104 0.088 40 94 40 0.103 26 6 2 4 1 2.033 40323 chr3 56807803 56807803 C T rs777872211 ARHGEF3 Synonymous SNV T52T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.05 40324 chr21 37444973 37444973 C T rs20572 CBR1 Synonymous SNV A209A 0.082 0.104 0.088 40 96 40 0.103 26 6 2 4 1 13.64 40325 chr21 42720579 42720579 G A rs111988437 FAM3B Nonsynonymous SNV M134I 0.045 0.049 0.048 15 53 19 0.038 14 1 0 0 0 8.872 40326 chr21 45670770 45670770 T C rs7354779 DNMT3L Nonsynonymous SNV R278G 0.234 0.24 0.177 95 275 92 0.244 52 33 11 7 13 10.33 40327 chr20 62173817 62173817 C T rs34969822 SRMS Nonsynonymous SNV V255M 0.028 0.01 0.031 7 33 4 0.018 9 2 0 0 0 28 40328 chr21 37833307 37833307 C T rs219780 CLDN14 Synonymous SNV T229T 0.17 0.172 0.146 80 199 66 0.205 43 19 4 5 9 Benign 5.418 40329 chr21 45709568 45709568 C T rs1055311 AIRE Synonymous SNV G227G 0.187 0.169 0.19 75 220 65 0.192 56 17 2 8 8 Benign 8.705 40330 chr21 45732116 45732116 C T rs1057034 PFKL Synonymous SNV L122L 0.549 0.578 0.483 223 644 222 0.572 142 171 67 40 62 Benign 9.107 40331 chr11 82698729 82698729 G A RAB30 Synonymous SNV L87L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.55 40332 chr21 45811343 45811343 T G rs1556314 TRPM2 Nonsynonymous SNV D543E 0.142 0.138 0.167 61 167 53 0.156 49 10 4 8 2 0.001 40333 chr3 58196583 58196583 G A rs34252389 DNASE1L3 Synonymous SNV S17S 0.047 0.052 0.054 29 55 20 0.074 16 1 1 0 1 8.61 40334 chr21 45953773 45953773 C T rs144166142 TSPEAR Nonsynonymous SNV E113K 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Likely benign 13.15 40335 chr20 30486309 30486309 C T TTLL9 Nonsynonymous SNV P59S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 40336 chr3 58512285 58512285 T C rs13097249 ACOX2 Synonymous SNV S418S 0.049 0.055 0.085 36 58 21 0.092 25 1 0 1 2 6.387 40337 chr21 45977945 45977945 C T rs13047815 KRTAP10-3 Synonymous SNV K218K 0.037 0.047 0.058 16 44 18 0.041 17 0 0 0 0 10.55 40338 chr21 43236176 43236176 G A rs4075967 PRDM15 Synonymous SNV H796H 0.168 0.135 0.129 68 197 52 0.174 38 20 3 6 4 10.71 40339 chr21 39528455 39528455 A T rs2836172 DSCR8 0.021 0.029 0.024 7 25 11 0.018 7 0 0 1 0 27.2 40340 chr3 58834824 58834824 A G rs1554909 C3orf67 Synonymous SNV A580A 0.026 0.023 0.037 14 31 9 0.036 11 0 0 0 0 17.91 40341 chr3 58834890 58834890 C T rs6797698 C3orf67 Synonymous SNV G558G 0.048 0.049 0.058 23 56 19 0.059 17 0 0 0 0 6.634 40342 chr21 39671447 39671447 C T rs3746876 KCNJ15 Synonymous SNV I88I 0.013 0.016 0.014 6 15 6 0.015 4 0 0 0 0 3.599 40343 chr21 43254639 43254639 G A rs767480821 PRDM15 Synonymous SNV G504G 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 16.53 40344 chr21 40186852 40186852 C T ETS2 Nonsynonymous SNV A151V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.4 40345 chr21 26976222 26976222 C T rs7278168 MRPL39 Synonymous SNV K102K 0.014 0.01 0.007 5 16 4 0.013 2 0 0 0 0 16.67 40346 chr21 26976237 26976237 C T rs7278284 MRPL39 Synonymous SNV E97E 0.014 0.01 0.007 5 16 4 0.013 2 0 0 0 0 15.27 40347 chr21 43298846 43298846 C T rs143393748 PRDM15 Nonsynonymous SNV G124D 0.118 0.117 0.126 41 139 45 0.105 37 11 2 1 4 17.78 40348 chr21 45978591 45978591 G A rs79221051 KRTAP10-3 Nonsynonymous SNV T3M 0.207 0.203 0.194 82 243 78 0.21 57 23 8 9 9 11.76 40349 chr21 43298954 43298954 - G rs202107842 PRDM15 Frameshift insertion R88Pfs*46 0.138 0.063 0.218 60 162 24 0.154 64 81 12 32 30 40350 chr21 26979752 26979752 C T rs61735760 MRPL39 Synonymous SNV R12R 0.01 0.008 0 5 12 3 0.013 0 0 0 0 0 9.715 40351 chr3 64142859 64142859 C T rs17720698 PRICKLE2 Synonymous SNV P193P 0.238 0.154 0.18 74 279 59 0.19 53 34 6 5 4 Benign 14.6 40352 chr21 27071005 27071005 A G rs9982750 JAM2 Synonymous SNV P101P 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 Benign 10.23 40353 chr21 43413553 43413553 T G rs871546 ZBTB21 Nonsynonymous SNV K218Q 0.196 0.201 0.197 79 230 77 0.203 58 27 5 3 8 22.8 40354 chr21 27084686 27084686 A C rs9976382 JAM2 Nonsynonymous SNV S250R 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 20.5 40355 chr20 31607526 31607526 G A rs769081451 BPIFB2 Synonymous SNV S350S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.09 40356 chr20 62196028 62196028 C T rs766206948 HELZ2 Nonsynonymous SNV G814R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.5 40357 chr11 87032287 87032287 G C rs11235097 TMEM135 Nonsynonymous SNV G408A 0.045 0.034 0.048 25 53 13 0.064 14 3 0 1 0 8.89 40358 chr3 66431280 66431280 C T rs9877201 LRIG1 Nonsynonymous SNV G926S 0.008 0.008 0.024 6 9 3 0.015 7 0 0 1 0 5.655 40359 chr20 4893595 4893595 G A rs79938474 SLC23A2 Synonymous SNV S46S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 11.69 40360 chr21 28216725 28216725 G T rs370751970 ADAMTS1 Nonsynonymous SNV F183L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 11.56 40361 chr21 46233836 46233836 C A rs2838697 SUMO3 Nonsynonymous SNV V69F 0.102 0.109 0.116 30 120 42 0.077 34 4 3 2 0 4.308 40362 chr20 49411698 49411698 G T rs2272962 BCAS4 Nonsynonymous SNV E56D 0.118 0.122 0.15 55 138 47 0.141 44 14 3 3 5 13.4 40363 chr21 46233863 46233863 G C rs13050872 SUMO3 Nonsynonymous SNV L60V 0.293 0.289 0.31 84 344 111 0.215 91 50 15 14 10 0.192 40364 chr3 67053926 67053926 T C rs75804175 KBTBD8 Nonsynonymous SNV F179L 0.09 0.099 0.105 48 106 38 0.123 31 3 2 3 2 25.8 40365 chr21 46271452 46271452 C T rs235314 PTTG1IP Nonsynonymous SNV A87T 0.587 0.57 0.636 203 689 219 0.521 187 202 70 60 59 4.543 40366 chr3 67058410 67058410 G A KBTBD8 Synonymous SNV V469V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.205 40367 chr3 69054341 69054341 T C rs6781612 EOGT Synonymous SNV R155R 0.286 0.299 0.316 110 336 115 0.282 93 46 16 12 16 Benign 6.28 40368 chr20 44650318 44650318 A T rs10432735 SLC12A5-AS1 0.043 0.042 0 23 51 16 0.059 0 8 4 0 6 13.88 40369 chr21 46311813 46311813 A G rs235326 ITGB2 Synonymous SNV V441V 0.72 0.69 0.776 247 845 265 0.633 228 305 95 90 81 Benign 0.146 40370 chr21 28305324 28305324 C T rs146717299 ADAMTS5 Nonsynonymous SNV G577S 0.061 0.06 0.041 19 72 23 0.049 12 1 0 0 1 34 40371 chr21 41465664 41465664 G A rs62237594 DSCAM Synonymous SNV V1278V 0.028 0.018 0.02 11 33 7 0.028 6 2 0 0 0 Likely benign 8.538 40372 chr21 46604932 46604932 G A rs775372862 ADARB1 Synonymous SNV A497A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 11.71 40373 chr20 45130278 45130278 G C ZNF334 Nonsynonymous SNV T529R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25 40374 chr21 46641968 46641968 G A rs1051367 ADARB1 Nonsynonymous SNV A729T 0.514 0.5 0.503 190 603 192 0.487 148 154 43 41 42 8.886 40375 chr3 69299233 69299233 C G rs4361282 FRMD4B Nonsynonymous SNV E173D 0.239 0.219 0.194 72 280 84 0.185 57 31 9 6 6 14.13 40376 chr20 62321189 62321189 C T rs61753459 RTEL1 Synonymous SNV D481D 0.14 0.135 0.099 46 164 52 0.118 29 8 4 0 3 Benign 13.36 40377 chr21 42842591 42842591 C T rs61735794 TMPRSS2 Synonymous SNV G422G 0.024 0.018 0.02 13 28 7 0.033 6 0 0 0 0 13.18 40378 chr21 42845374 42845374 G A rs2298659 TMPRSS2 Synonymous SNV G296G 0.14 0.138 0.122 63 164 53 0.162 36 12 5 3 2 7.162 40379 chr21 46875874 46875874 G A rs61759533 COL18A1 Nonsynonymous SNV V144I 0.026 0.031 0.017 7 30 12 0.018 5 0 0 0 0 2.346 40380 chr21 42866332 42866332 G A rs61735792 TMPRSS2 Synonymous SNV P100P 0.009 0.01 0.014 9 11 4 0.023 4 0 0 0 0 8.479 40381 chr20 52570006 52570006 G A rs188012448 BCAS1 Nonsynonymous SNV R457W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.2 40382 chr21 43897549 43897549 T C rs149478284 RSPH1 Synonymous SNV R155R 0.046 0.039 0.041 14 54 15 0.036 12 4 0 1 1 Benign 5.352 40383 chr21 46876173 46876173 C T rs2236452 COL18A1 Synonymous SNV P243P 0.191 0.211 0.197 70 224 81 0.179 58 22 14 5 5 2.464 40384 chr21 30971183 30971183 G A rs363430 GRIK1 Synonymous SNV D249D 0.148 0.159 0.126 47 174 61 0.121 37 15 5 4 2 11.49 40385 chr21 44270229 44270229 C T rs6586250 WDR4 Nonsynonymous SNV R389Q 0.227 0.172 0.235 78 267 66 0.2 69 29 4 9 10 5.678 40386 chr21 46876580 46876580 C T rs8133886 COL18A1 Nonsynonymous SNV T379M 0.305 0.31 0.313 109 358 119 0.279 92 49 24 10 12 13.89 40387 chr20 62329982 62329982 T A RTEL1-TNFRSF6B 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.26 40388 chr3 7494417 7494417 A T rs2229902 GRM7 Nonsynonymous SNV Y433F 0.38 0.372 0.35 146 446 143 0.374 103 77 24 20 26 13.11 40389 chr21 44273858 44273858 G A rs15736 WDR4 Nonsynonymous SNV P265S 0.353 0.294 0.337 111 415 113 0.285 99 71 16 19 18 13.77 40390 chr11 93431864 93431864 A G rs61746125 CEP295 Synonymous SNV A1262A 0.014 0.01 0.017 5 17 4 0.013 5 1 0 0 0 5.754 40391 chr3 7620168 7620168 A G rs34373930 GRM7 Synonymous SNV L525L 0.208 0.19 0.173 69 244 73 0.177 51 22 6 2 7 5.85 40392 chr21 44283574 44283574 C T rs11911090 WDR4 Synonymous SNV G143G 0.096 0.078 0.088 37 113 30 0.095 26 4 0 1 3 12.86 40393 chr3 7620382 7620382 C T rs7614915 GRM7 Synonymous SNV L597L 0.208 0.19 0.173 69 244 73 0.177 51 22 6 2 7 10.49 40394 chr3 7620828 7620828 G A rs1485174 GRM7 Synonymous SNV G745G 0.208 0.19 0.173 69 244 73 0.177 51 22 6 2 7 0.011 40395 chr3 78680431 78680431 - CCC rs148625921 ROBO1 G1068_A1069insG 0.011 0.021 0.003 7 13 8 0.018 1 0 0 0 1 40396 chr21 47334414 47334414 C T rs440207 PCBP3 Stop gain R223X 0.435 0.414 0 165 511 159 0.423 0 107 33 0 35 1.516 40397 chr20 55909085 55909085 T G rs16980893 SPO11 Synonymous SNV T110T 0.02 0.01 0.017 8 24 4 0.021 5 1 0 0 0 7.542 40398 chr20 62641575 62641575 G A rs2427588 PRPF6 Synonymous SNV S403S 0.084 0.089 0.092 37 99 34 0.095 27 6 1 1 2 Benign 14.19 40399 chr3 8775661 8775661 C T rs1008642 CAV3 Synonymous SNV N33N 0.27 0.245 0.303 94 317 94 0.241 89 45 11 12 13 Benign/Likely benign 14.37 40400 chr21 45391272 45391272 C T rs62229686 AGPAT3 Nonsynonymous SNV A223V 0.014 0.01 0.007 1 17 4 0.003 2 0 0 0 0 15.54 40401 chr21 47423576 47423576 C T rs13879 COL6A1 Synonymous SNV D912D 0.049 0.042 0.044 21 57 16 0.054 13 2 1 0 1 Benign 8.972 40402 chr21 31973525 31973525 A G rs724849 KRTAP22-1 Nonsynonymous SNV Y29C 0.037 0.039 0.02 16 43 15 0.041 6 2 0 1 0 2.16 40403 chr3 8809184 8809184 G A rs237902 OXTR Synonymous SNV N230N 0.338 0.354 0.425 146 397 136 0.374 125 50 30 23 32 0.03 40404 chr21 45503121 45503121 G A rs2071152 TRAPPC10 Nonsynonymous SNV V259M 0.175 0.198 0.18 61 206 76 0.156 53 19 7 4 3 2.074 40405 chr21 31986097 31986097 G A rs74914596 KRTAP6-1 Nonsynonymous SNV R43C 0.084 0.081 0.065 25 99 31 0.064 19 1 1 2 2 18.46 40406 chr21 47542052 47542052 C T rs141166141 COL6A2 Nonsynonymous SNV P518S 0.018 0.018 0.007 6 21 7 0.015 2 0 0 0 0 Benign/Likely benign 23.2 40407 chr21 45523281 45523281 G A rs773848961 TRAPPC10 Nonsynonymous SNV E750K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.7 40408 chr21 32410619 32410619 A G rs2833198 KRTAP19-8 Synonymous SNV C48C 0.044 0.034 0.027 29 52 13 0.074 8 1 0 1 2 0.287 40409 chr3 93813944 93813944 C T NSUN3 Nonsynonymous SNV S230F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 40410 chr21 47545712 47545712 C T rs537211984 COL6A2 Synonymous SNV G661G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 40411 chr21 47556882 47556882 G A rs79622089 FTCD Nonsynonymous SNV P542L 0.081 0.073 0.088 38 95 28 0.097 26 7 1 1 2 Benign 0.106 40412 chr21 33755763 33755763 G A rs2833795 URB1 Synonymous SNV L179L 0.323 0.307 0.276 112 379 118 0.287 81 61 17 8 19 10.26 40413 chr20 35663715 35663715 T C rs143483819 RBL1 Synonymous SNV Q273Q 0.007 0.013 0.007 0 8 5 0 2 0 0 0 0 0.055 40414 chr21 47557222 47557222 G A rs10432965 FTCD Synonymous SNV G490G 0.042 0.06 0.075 22 49 23 0.056 22 1 0 0 1 Benign 8.387 40415 chr3 9515150 9515150 G A rs146583836 SETD5 Synonymous SNV A1142A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.32 40416 chr21 43557751 43557832 GGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG - UMODL1 0.194 0.185 0.153 64 228 71 0.164 45 20 4 3 5 40417 chr21 47558473 47558473 G C rs1047179 FTCD Synonymous SNV A464A 0.527 0.503 0.469 205 619 193 0.526 138 161 47 39 54 Benign 0.033 40418 chr21 43810084 43810084 C T rs928302 TMPRSS3 Nonsynonymous SNV V53I 0.057 0.039 0.051 16 67 15 0.041 15 2 0 2 1 Benign 13.72 40419 chr21 47581866 47581866 G A rs149481630 SPATC1L Synonymous SNV G66G 0.025 0.031 0.014 9 29 12 0.023 4 1 0 0 0 12.28 40420 chr12 6649716 6649716 G A rs139792267 IFFO1 Nonsynonymous SNV P538L 0.009 0.013 0.014 9 11 5 0.023 4 1 0 0 0 22.8 40421 chr21 45709906 45709906 C G rs1800520 AIRE Nonsynonymous SNV S278R 0.101 0.102 0.092 41 118 39 0.105 27 8 2 0 0 Benign 0.057 40422 chr3 97595566 97595566 T C rs79662584 CRYBG3 Nonsynonymous SNV I1843T 0.042 0.049 0.054 30 49 19 0.077 16 0 1 0 1 7.486 40423 chr21 43838643 43838643 G A rs13048049 UBASH3A Nonsynonymous SNV R286Q 0.043 0.021 0.048 11 50 8 0.028 14 2 0 2 0 15.12 40424 chr12 6777072 6777072 - TGCTGCTGCTGCTGCTGC ZNF384 Q400_P401insQQQQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 40425 chr21 43896143 43896143 C T rs117385282 RSPH1 Nonsynonymous SNV G210R 0.182 0.146 0.17 56 214 56 0.144 50 15 10 5 5 Benign 10.42 40426 chr21 15558346 15558346 G A rs397517 LIPI Synonymous SNV S159S 0.14 0.146 0.139 73 164 56 0.187 41 14 5 2 8 10.77 40427 chr21 45751749 45751749 C A rs372721170 CFAP410 Synonymous SNV P174P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 16 40428 chr21 15599466 15599466 A G rs7280643 RBM11 Nonsynonymous SNV H240R 0.087 0.086 0.088 26 102 33 0.067 26 5 1 0 2 5.702 40429 chr21 47773177 47773177 C T rs2249060 PCNT Nonsynonymous SNV T421I 0.147 0.143 0.092 68 173 55 0.174 27 14 3 0 6 Benign 6.57 40430 chr21 45826486 45826486 G A rs56379273 TRPM2 Nonsynonymous SNV V934I 0.035 0.039 0.017 11 41 15 0.028 5 2 1 1 0 22.4 40431 chr20 56796528 56796528 A T rs6015225 ANKRD60 Nonsynonymous SNV F198Y 0.002 0.01 0.007 2 2 4 0.005 2 0 0 0 0 0.381 40432 chr11 100558649 100558649 G A rs186312627 LOC100128386 0.014 0.01 0 8 16 4 0.021 0 0 0 0 0 11.32 40433 chr12 6954792 6954792 G A rs372895359 GNB3 Nonsynonymous SNV A247T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.91 40434 chr3 98073313 98073313 A G rs9822460 OR5K4 Nonsynonymous SNV I206V 0.141 0.161 0.167 58 165 62 0.149 49 10 3 4 3 5.382 40435 chr20 50049079 50049079 G A rs145906106 NFATC2 Synonymous SNV A729A 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 10.23 40436 chr21 35201947 35201947 C T rs1108000 ITSN1 Synonymous SNV A1007A 0.188 0.203 0.088 80 221 78 0.205 26 16 9 4 9 12.7 40437 chr21 15954601 15954601 G T rs139465416 SAMSN1 Nonsynonymous SNV H39Q 0.003 0 0 0 3 0 0 0 0 0 0 0 7.489 40438 chr21 47786524 47786524 A G rs2839227 PCNT Nonsynonymous SNV T761A 0.169 0.169 0.133 67 198 65 0.172 39 16 6 2 5 Benign 14.28 40439 chr3 98109640 98109640 G A rs13068323 OR5K3 Nonsynonymous SNV G44D 0.114 0.12 0.116 51 134 46 0.131 34 9 0 2 2 16.27 40440 chr3 98217178 98217178 T A rs55639376 OR5K2 Stop gain Y218X 0.104 0.117 0.095 49 122 45 0.126 28 8 1 2 1 28.9 40441 chr20 57244483 57244483 G A rs757412639 STX16 Nonsynonymous SNV R173Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 35 40442 chr21 47808679 47808679 C T rs7279204 PCNT Nonsynonymous SNV R1045C 0.151 0.154 0.068 64 177 59 0.164 20 15 4 0 5 Benign 24.3 40443 chr20 57282190 57282190 G A rs41310841 NPEPL1 Synonymous SNV P278P 0.042 0.031 0.041 19 49 12 0.049 12 0 0 0 0 7.221 40444 chr21 47821588 47821588 A G rs6518291 PCNT Nonsynonymous SNV I1521V 0.213 0.245 0.163 82 250 94 0.21 48 25 13 2 10 Benign 0.001 40445 chr20 50803444 50803444 C T rs36027430 ZFP64 Synonymous SNV S71S 0.058 0.055 0.061 17 68 21 0.044 18 3 0 1 0 13.12 40446 chr11 101342958 101342958 G A rs61743044 TRPC6 Synonymous SNV Y705Y 0.012 0.005 0.007 6 14 2 0.015 2 0 0 0 0 Benign 7.688 40447 chr20 50803573 50803573 G A rs34351592 ZFP64 Synonymous SNV P28P 0.058 0.055 0.061 17 68 21 0.044 18 3 0 1 0 8.158 40448 chr21 46058060 46058060 C T rs13051517 KRTAP10-10 Synonymous SNV S242S 0.418 0.398 0.412 144 491 153 0.369 121 104 28 30 24 3.746 40449 chr20 5086870 5086870 T C rs148033002 TMEM230 Nonsynonymous SNV I62M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.22 40450 chr3 9918776 9918776 A G rs79419480 CIDEC Nonsynonymous SNV Y61H 0.021 0.013 0.041 5 25 5 0.013 12 0 0 1 0 Benign 0.028 40451 chr20 57484241 57484241 C T rs8620 GNAS Synonymous SNV I170I 0.028 0.039 0.027 8 33 15 0.021 8 0 0 0 0 17.42 40452 chr20 57485812 57485812 C T rs8386 GNAS Synonymous SNV N356N 0.028 0.039 0.027 8 33 15 0.021 8 0 0 0 0 12.89 40453 chr21 37416255 37416255 C T rs199934772 SETD4 0.006 0.005 0 0 7 2 0 0 0 0 0 0 26.3 40454 chr3 9944636 9944636 C T rs12492494 IL17RE Nonsynonymous SNV A7V 0.018 0.016 0.041 7 21 6 0.018 12 0 0 0 0 Benign 14.86 40455 chr21 47851796 47851796 G A rs9983522 PCNT Synonymous SNV A2688A 0.148 0.151 0.095 60 174 58 0.154 28 14 4 0 4 Benign 9.288 40456 chr21 47855876 47855876 A G rs17371795 PCNT Synonymous SNV T2740T 0.149 0.154 0.095 64 175 59 0.164 28 14 4 0 5 Benign 0.078 40457 chr21 47974582 47974582 A G rs1107065 DIP2A Synonymous SNV T1079T 0.368 0.339 0.333 151 432 130 0.387 98 84 27 17 37 0.911 40458 chr20 57597970 57597970 A C rs463312 TUBB1 Nonsynonymous SNV Q43P 0.059 0.044 0.051 24 69 17 0.062 15 1 0 0 0 26.4 40459 chr20 36868106 36868106 G A rs11699859 KIAA1755 Nonsynonymous SNV T524I 0.02 0.016 0.017 14 24 6 0.036 5 1 0 0 0 23.7 40460 chr12 8197424 8197424 C G rs35642012 FOXJ2 Synonymous SNV P229P 0.148 0.128 0.153 56 174 49 0.144 45 11 0 3 5 11.73 40461 chr20 57597971 57597971 G C rs415064 TUBB1 Nonsynonymous SNV Q43H 0.059 0.044 0.051 24 69 17 0.062 15 1 0 0 0 27.7 40462 chr3 9960203 9960203 C T rs201752793 IL17RC Synonymous SNV V100V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.95 40463 chr21 37603038 37603038 A G rs117763400 DOP1B Synonymous SNV E652E 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 0.13 40464 chr22 17583064 17583064 C T rs1046787585 IL17RA Synonymous SNV L212L 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 3.907 40465 chr22 17589246 17589246 G A rs879576 IL17RA Synonymous SNV K345K 0.161 0.169 0.194 59 189 65 0.151 57 14 4 2 3 Benign 10.86 40466 chr12 8988238 8988238 G C rs11047499 A2ML1 Nonsynonymous SNV G207R 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign 13.22 40467 chr21 46387078 46387078 G T rs2294168 FAM207A Nonsynonymous SNV S161I 0.086 0.078 0.058 32 101 30 0.082 17 4 0 1 0 19.4 40468 chr22 17590180 17590180 G A rs41323645 IL17RA Nonsynonymous SNV A657T 0.158 0.159 0.15 58 186 61 0.149 44 14 3 2 3 Benign 23 40469 chr12 8993985 8993985 T C rs61744222 A2ML1 Synonymous SNV D367D 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign 5.86 40470 chr20 36997672 36997672 C T rs5744212 LBP Nonsynonymous SNV L339F 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 24.1 40471 chr12 8993993 8993993 T C rs61744220 A2ML1 Nonsynonymous SNV F370S 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign 15.44 40472 chr22 17601466 17601466 T C rs75243280 TMEM121B Synonymous SNV R184R 0.279 0.273 0.289 137 327 105 0.351 85 61 29 12 30 0.008 40473 chr20 37252018 37252018 G A rs6100437 ARHGAP40 Nonsynonymous SNV G52S 0.049 0.063 0.071 20 57 24 0.051 21 1 0 1 0 3.992 40474 chr21 46899842 46899842 C T rs1131100 COL18A1 Synonymous SNV P605P 0.079 0.068 0.088 34 93 26 0.087 26 5 1 1 0 Benign 7.515 40475 chr22 17640045 17640045 G A rs7287672 HDHD5 Nonsynonymous SNV R33C 0.333 0.305 0.228 133 391 117 0.341 67 79 19 12 24 15.93 40476 chr21 46899857 46899857 C T rs1131101 COL18A1 Synonymous SNV D610D 0.079 0.068 0.092 34 93 26 0.087 27 5 1 1 0 Benign 11.26 40477 chr22 17662793 17662793 A G rs7289170 ADA2 Synonymous SNV Y212Y 0.351 0.333 0.31 143 412 128 0.367 91 78 19 15 24 Benign 0.042 40478 chr12 9009765 9009765 A C rs768513499 A2ML1 Nonsynonymous SNV I461L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.79 40479 chr21 46899872 46899872 C A rs1131102 COL18A1 Synonymous SNV G615G 0.078 0.07 0.095 34 92 27 0.087 28 5 1 1 0 Benign 13.18 40480 chr21 46900410 46900410 C T rs2236467 COL18A1 Synonymous SNV F656F 0.079 0.07 0.112 34 93 27 0.087 33 5 1 1 0 Benign 10.78 40481 chr21 46910210 46910210 G A rs62000962 COL18A1 Nonsynonymous SNV V841I 0.141 0.12 0.139 57 165 46 0.146 41 7 2 3 1 Benign 0.315 40482 chr22 18021604 18021604 C T rs1296794 CECR2 Nonsynonymous SNV P491L 0.127 0.141 0.126 49 149 54 0.126 37 8 3 5 2 23.6 40483 chr20 37546969 37546969 T C rs560349096 PPP1R16B Nonsynonymous SNV M413T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.61 40484 chr11 102584104 102584104 T G rs35866072 MMP8 Nonsynonymous SNV K460T 0.075 0.049 0.071 30 88 19 0.077 21 5 1 1 2 0.03 40485 chr12 9016437 9016437 A T rs143603619 A2ML1 Nonsynonymous SNV S693C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 20.4 40486 chr21 46930010 46930010 A G rs9980939 COL18A1 Synonymous SNV S1353S 0.009 0.013 0.017 3 11 5 0.008 5 0 0 0 0 Benign 0.033 40487 chr20 56137184 56137184 C T rs6070157 PCK1 Synonymous SNV I94I 0.172 0.206 0.163 59 202 79 0.151 48 13 10 2 4 Likely benign 15.77 40488 chr11 102592160 102592160 G A rs11602288 MMP8 Synonymous SNV A198A 0.027 0.029 0.02 13 32 11 0.033 6 0 1 1 0 10.97 40489 chr22 19026480 19026480 C G rs34852650 DGCR2 Synonymous SNV L476L 0.044 0.013 0.031 16 52 5 0.041 9 1 0 0 0 9.186 40490 chr4 102004360 102004360 G A rs199706529 PPP3CA Synonymous SNV H281H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.966 40491 chr21 47423509 47423509 C T rs13051496 COL6A1 Nonsynonymous SNV S890L 0.189 0.206 0.184 67 222 79 0.172 54 25 6 4 7 Benign 16.81 40492 chr20 56138648 56138648 G A rs11552145 PCK1 Nonsynonymous SNV E276K 0.17 0.203 0.163 57 199 78 0.146 48 12 9 2 3 Likely benign 0.032 40493 chr21 47544825 47544825 C T rs146311719 COL6A2 Synonymous SNV P587P 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.68 40494 chr22 19511925 19511925 G A rs885985 CLDN5 Stop gain Q37X 0.561 0.563 0.524 214 659 216 0.549 154 170 66 42 59 22.7 40495 chr21 47545913 47545913 G A rs2839114 COL6A2 Synonymous SNV V728V 0.35 0.32 0.289 115 411 123 0.295 85 76 21 15 18 Benign 8.941 40496 chr4 10447168 10447168 C G rs66538112 ZNF518B Nonsynonymous SNV G262A 0.253 0.284 0.214 104 297 109 0.267 63 34 11 4 9 0.988 40497 chr21 40800371 40800371 C T rs2837029 LCA5L Nonsynonymous SNV G17S 0.26 0.271 0.201 123 305 104 0.315 59 42 13 9 16 8.481 40498 chr4 10447640 10447640 A G rs10016702 ZNF518B Nonsynonymous SNV S105P 0.101 0.07 0.085 45 118 27 0.115 25 4 2 0 5 0.049 40499 chr21 40823902 40823902 C G rs11575939 SH3BGR Nonsynonymous SNV D23E 0.244 0.245 0.194 120 287 94 0.308 57 34 10 9 18 0.212 40500 chr21 47611799 47611799 G A rs17293705 LSS Nonsynonymous SNV P608L 0.028 0.018 0.02 7 33 7 0.018 6 0 0 0 0 Likely benign 24.7 40501 chr22 19950235 19950235 C T rs4633 COMT Synonymous SNV H12H 0.473 0.43 0.405 196 555 165 0.503 119 136 32 22 47 Benign 12.81 40502 chr4 1052125 1052125 T C rs11724371 RNF212 Nonsynonymous SNV M211V 0 0 0.707 0 0 0 0 208 0 0 82 0 0.261 40503 chr22 19951271 19951271 G A rs4680 COMT Nonsynonymous SNV V108M 0.474 0.43 0.401 195 556 165 0.5 118 137 32 22 46 drug response 11.38 40504 chr4 1052166 1052166 A C rs2248083 RNF212 Nonsynonymous SNV L197R 0 0 0.697 0 0 0 0 205 0 0 80 0 4.877 40505 chr4 106155828 106155828 - A TET2 Frameshift insertion T245Nfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 40506 chr21 47660852 47660852 T G MCM3AP Nonsynonymous SNV S1836R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.01 40507 chr22 20761063 20761063 G A rs2228236 ZNF74 Synonymous SNV E509E 0.192 0.185 0.187 74 225 71 0.19 55 16 5 5 8 2.276 40508 chr21 47662900 47662900 A - rs56371413 MCM3AP-AS1 0.121 0.159 0.085 45 142 61 0.115 25 49 22 8 16 40509 chr21 47666744 47666744 G T rs17183220 MCM3AP Nonsynonymous SNV D1449E 0.055 0.081 0.041 24 65 31 0.062 12 2 2 0 0 11.47 40510 chr21 47692531 47692531 T C rs17182739 MCM3AP Synonymous SNV E803E 0.05 0.073 0.041 24 59 28 0.062 12 2 2 0 0 0.042 40511 chr21 47707039 47707039 - AAAAA rs530846715 YBEY 0.112 0.154 0.112 39 132 59 0.1 33 21 13 8 10 40512 chr21 47717493 47717493 G T rs61736728 YBEY Nonsynonymous SNV R107L 0.024 0.044 0.024 9 28 17 0.023 7 1 1 0 0 17.17 40513 chr20 57429321 57429321 G A rs535138966 GNAS Nonsynonymous SNV A272T 0.006 0.016 0 5 7 6 0.013 0 0 0 0 0 16.27 40514 chr20 43379268 43379268 C A rs13037900 KCNK15 Nonsynonymous SNV P261H 0.072 0.065 0.065 36 84 25 0.092 19 3 1 1 1 22.5 40515 chr21 47766113 47766113 T G rs34500739 PCNT Nonsynonymous SNV H119Q 0.044 0.076 0.031 15 52 29 0.038 9 1 1 0 0 Benign 1.132 40516 chr22 20920813 20920813 - CAG rs361923 MED15 Q191_A192insQ 0.135 0.117 0.085 57 159 45 0.146 25 7 1 0 3 40517 chr21 32638629 32638629 C T rs374794029 TIAM1 Synonymous SNV P220P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.22 40518 chr21 46313442 46313442 G T rs2230529 ITGB2 Synonymous SNV V367V 0.302 0.307 0.354 110 355 118 0.282 104 45 17 17 12 Benign 11.75 40519 chr11 108143456 108143456 C G rs1800057 ATM Nonsynonymous SNV P1054R 0.041 0.018 0.048 12 48 7 0.031 14 2 0 0 1 Benign 26.5 40520 chr21 43161252 43161252 G A rs35537517 RIPK4 Nonsynonymous SNV P701S 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 Benign/Likely benign 15.61 40521 chr21 33688865 33688865 A G rs7279896 URB1 Synonymous SNV A2182A 0.176 0.169 0.16 70 207 65 0.179 47 15 6 4 8 8.733 40522 chr21 46330674 46330674 C A rs11088969 ITGB2 Synonymous SNV L8L 0.244 0.19 0.218 88 286 73 0.226 64 31 6 11 7 Benign 10.98 40523 chr22 21337325 21337325 G A rs13054014 LZTR1 Synonymous SNV K70K 0.255 0.221 0.241 84 299 85 0.215 71 40 8 9 9 Benign 14.11 40524 chr4 109478108 109478108 C G rs11731416 RPL34-AS1 0 0 0.588 0 0 0 0 173 0 0 51 0 5.851 40525 chr4 109541499 109541499 C T rs7677415 RPL34-AS1 0 0 0.293 0 0 0 0 86 0 0 15 0 7.983 40526 chr11 108357137 108357137 G A rs74911261 POGLUT3 Nonsynonymous SNV P144L 0.033 0.013 0.037 12 39 5 0.031 11 2 0 0 1 33 40527 chr21 33717877 33717877 G A rs2833779 URB1 Synonymous SNV S1292S 0.168 0.156 0.15 68 197 60 0.174 44 16 7 3 8 8.644 40528 chr4 109541603 109541603 T A rs3796936 RPL34-AS1 0 0 0.293 0 0 0 0 86 0 0 15 0 7.927 40529 chr21 33719400 33719400 A G rs9981151 URB1 Synonymous SNV L1245L 0.179 0.172 0.153 70 210 66 0.179 45 16 7 3 8 0.742 40530 chr22 21377650 21377650 G A rs2277838 P2RX6 Nonsynonymous SNV R91H 0.163 0.138 0.102 59 191 53 0.151 30 20 4 0 6 24 40531 chr22 21385843 21385843 G A rs2072549 SLC7A4 Synonymous SNV L87L 0.17 0.154 0.126 61 199 59 0.156 37 23 4 0 6 2.04 40532 chr21 33757947 33757947 A T rs58978310 URB1 Nonsynonymous SNV D63E 0.153 0.141 0.129 52 180 54 0.133 38 16 7 2 4 0.078 40533 chr21 43169357 43169357 C G rs2838114 RIPK4 Synonymous SNV A210A 0.171 0.154 0.15 60 201 59 0.154 44 22 5 2 4 Benign 15.06 40534 chr20 61444515 61444574 GAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA - OGFR S525_P544del 0.048 0.023 0.051 16 56 9 0.041 15 2 1 0 1 40535 chr21 43176799 43176799 T G rs13049286 RIPK4 Synonymous SNV R120R 0.172 0.156 0.163 59 202 60 0.151 48 22 5 2 4 Benign 0.088 40536 chr21 33887131 33887131 G A rs1129157 EVA1C Synonymous SNV P212P 0.278 0.307 0.214 98 326 118 0.251 63 44 19 7 15 7.678 40537 chr21 47831309 47831309 G A rs58559714 PCNT Synonymous SNV E1656E 0.064 0.094 0.068 18 75 36 0.046 20 1 2 1 0 Benign 6.65 40538 chr11 110030207 110030207 C T rs117504164 ZC3H12C Synonymous SNV V380V 0.009 0.013 0.017 5 10 5 0.013 5 0 0 0 0 13.09 40539 chr4 110765244 110765244 G A rs142661553 RRH Nonsynonymous SNV R302Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 40540 chr21 43176832 43176832 A G rs2277791 RIPK4 Synonymous SNV A109A 0.173 0.156 0.163 59 203 60 0.151 48 23 5 2 4 Benign 0.494 40541 chr21 46906859 46906867 CCCCCTGGG - rs764710670 COL18A1 P783_P785del 0.007 0 0 0 8 0 0 0 0 0 0 0 40542 chr22 22287862 22287862 G A rs2027789 PPM1F Synonymous SNV N216N 0.489 0.513 0.469 181 574 197 0.464 138 131 47 31 44 4.979 40543 chr21 47831618 47831618 C T rs16979162 PCNT Synonymous SNV I1759I 0.064 0.094 0.068 18 75 36 0.046 20 1 2 1 0 Benign 13.08 40544 chr22 22288560 22288560 G A rs9610645 PPM1F Nonsynonymous SNV R132C 0.122 0.125 0.109 38 143 48 0.097 32 4 4 1 2 17.94 40545 chr21 43221555 43221555 G A rs2236694 PRDM15 Synonymous SNV L1128L 0.138 0.146 0.17 46 162 56 0.118 50 17 4 1 3 8.652 40546 chr21 47831621 47831621 C T rs61735811 PCNT Synonymous SNV D1760D 0.044 0.076 0.031 15 52 29 0.038 9 1 1 0 0 Benign 11.02 40547 chr22 22318538 22318538 C T rs9610728 TOP3B Nonsynonymous SNV D365N 0.126 0.128 0.112 39 148 49 0.1 33 4 4 1 2 15.29 40548 chr21 47831845 47831845 G A rs34268261 PCNT Nonsynonymous SNV R1835H 0.044 0.076 0.031 15 52 29 0.038 9 1 1 0 0 Benign 0.143 40549 chr21 43236107 43236107 C T rs114337111 PRDM15 Synonymous SNV R819R 0.039 0.039 0.065 18 46 15 0.046 19 0 0 0 0 15.75 40550 chr22 22318671 22318671 G A rs9610729 TOP3B Synonymous SNV H320H 0.124 0.128 0.109 39 146 49 0.1 32 4 4 1 2 10.52 40551 chr21 34166571 34166571 G C C21orf62 Stop gain Y54X 0.009 0.008 0 0 11 3 0 0 0 0 0 0 37 40552 chr21 47836122 47836122 T C rs2839245 PCNT Nonsynonymous SNV L1979P 0.064 0.096 0.068 18 75 37 0.046 20 1 2 1 0 Benign 0.051 40553 chr20 61538601 61538601 C T rs34820000 DIDO1 Synonymous SNV A424A 0.078 0.086 0.054 21 91 33 0.054 16 2 2 0 1 12.98 40554 chr22 22599215 22599215 A G rs11089977 VPREB1 Star tloss M1? 0.044 0.057 0.044 19 52 22 0.049 13 1 1 0 1 2.434 40555 chr21 47836206 47836206 A C rs35978208 PCNT Nonsynonymous SNV H2007P 0.064 0.096 0.068 18 75 37 0.046 20 1 2 1 0 Benign 0.002 40556 chr20 61542863 61542863 G A rs11907248 DIDO1 Synonymous SNV I34I 0.078 0.086 0.054 21 91 33 0.054 16 2 2 0 1 10.14 40557 chr11 111746294 111746294 T C rs374372394 FDXACB1 Synonymous SNV Q409Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 40558 chr22 22599216 22599216 T C rs11089978 VPREB1 Star tloss M1? 0.044 0.057 0.044 19 52 22 0.049 13 1 1 0 1 1.686 40559 chr21 47836216 47836216 A G rs60444527 PCNT Synonymous SNV T2010T 0.064 0.096 0.068 18 75 37 0.046 20 1 2 1 0 Benign 0.069 40560 chr20 5924828 5924828 A G rs35861347 TRMT6 Synonymous SNV Y146Y 0.006 0 0.007 0 7 0 0 2 0 0 0 0 0.005 40561 chr21 47836395 47836395 T G rs1044998 PCNT Nonsynonymous SNV M2070R 0.064 0.096 0.068 18 75 37 0.046 20 1 2 1 0 Benign 0.002 40562 chr20 5935303 5935303 A C rs6117014 MCM8 Nonsynonymous SNV K101N 0.019 0.01 0.024 2 22 4 0.005 7 0 0 0 0 2.633 40563 chr21 47836547 47836547 T C rs35346764 PCNT Nonsynonymous SNV W2121R 0.064 0.096 0.068 18 75 37 0.046 20 1 2 1 0 Benign 0.5 40564 chr20 5974265 5974265 A G rs16991638 MCM8 Nonsynonymous SNV N738S 0.018 0.008 0.024 2 21 3 0.005 7 0 0 0 0 8.657 40565 chr21 47838123 47838123 A G rs2839246 PCNT Synonymous SNV K2191K 0.061 0.091 0.061 18 72 35 0.046 18 1 2 1 0 Benign 3.484 40566 chr20 6033004 6033004 G A rs6117050 LRRN4 Nonsynonymous SNV L148F 0.187 0.174 0.207 82 220 67 0.21 61 39 13 7 12 25.2 40567 chr21 47841933 47841933 T C rs61735815 PCNT Synonymous SNV P2240P 0.044 0.078 0.031 15 52 30 0.038 9 1 1 0 0 Benign 0.051 40568 chr21 47841941 47841941 A G rs7277175 PCNT Nonsynonymous SNV Q2243R 0.063 0.096 0.068 18 74 37 0.046 20 1 2 1 0 Benign 0.001 40569 chr20 44279187 44279187 G A rs149653661 WFDC11 Nonsynonymous SNV T18M 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.002 40570 chr21 47841989 47841989 C T rs61735814 PCNT Nonsynonymous SNV P2259L 0.039 0.07 0.027 15 46 27 0.038 8 1 1 0 0 Benign 17.95 40571 chr4 114278277 114278277 C T rs3733617 ANK2 Nonsynonymous SNV P2835S 0.063 0.068 0.061 14 74 26 0.036 18 2 1 1 0 Benign 6.374 40572 chr21 34889426 34889426 G A GART Synonymous SNV T659T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 40573 chr21 47847700 47847700 C T rs61735817 PCNT Synonymous SNV I2377I 0.039 0.07 0.031 15 46 27 0.038 9 1 1 0 0 Benign 9.184 40574 chr21 47848350 47848350 G A rs61735818 PCNT Synonymous SNV P2394P 0.044 0.078 0.031 15 52 30 0.038 9 1 1 0 0 Benign 5.869 40575 chr20 44463081 44463081 G C rs150979976 SNX21 Nonsynonymous SNV G88A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.004 40576 chr21 47848459 47848459 G A rs2839256 PCNT Nonsynonymous SNV A2431T 0.064 0.096 0.068 18 75 37 0.046 20 1 2 1 0 Benign 18.99 40577 chr21 47572887 47572887 C T rs61735836 FTCD Nonsynonymous SNV V101M 0.06 0.021 0.027 13 71 8 0.033 8 1 0 0 1 Likely benign 9.297 40578 chr20 44505830 44505830 C T rs61733888 ZSWIM3 Synonymous SNV T211T 0.049 0.034 0.061 16 57 13 0.041 18 0 0 1 1 10.64 40579 chr21 47602719 47602719 G A rs55819909 SPATC1L Synonymous SNV G4G 0.099 0.073 0.065 37 116 28 0.095 19 4 1 1 3 4.476 40580 chr21 43803167 43803167 T C rs2839500 TMPRSS3 Nonsynonymous SNV I126V 0.1 0.109 0.102 45 117 42 0.115 30 6 2 1 2 Benign/Likely benign 0.451 40581 chr21 47851636 47851636 G A rs743346 PCNT Nonsynonymous SNV R2635H 0.044 0.078 0.031 15 52 30 0.038 9 1 1 0 0 Benign 22.9 40582 chr20 44506661 44506661 G A rs17446462 ZSWIM3 Synonymous SNV P488P 0.049 0.034 0.061 16 57 13 0.041 18 0 0 1 1 0.158 40583 chr21 47635176 47635176 T C rs34115287 LSS Nonsynonymous SNV H230R 0.178 0.174 0.156 80 209 67 0.205 46 15 6 7 8 Benign 0.003 40584 chr21 47635627 47635627 C G rs9980968 LSS Synonymous SNV P208P 0.416 0.401 0.429 175 488 154 0.449 126 100 30 26 37 Benign 9.84 40585 chr21 34960634 34960634 G C rs186663238 DONSON Nonsynonymous SNV P105R 0.041 0.06 0.007 22 48 23 0.056 2 0 2 0 0 8.363 40586 chr21 47641794 47641794 C T rs2839158 LSS Nonsynonymous SNV R95Q 0.181 0.169 0.177 80 212 65 0.205 52 15 4 7 8 Benign 24.8 40587 chr4 119154201 119154201 T C rs13138385 NDST3 Synonymous SNV H618H 0.039 0.044 0.034 17 46 17 0.044 10 1 0 0 1 0.515 40588 chr20 44587926 44587926 A C rs41305805 ZNF335 Nonsynonymous SNV F723V 0.02 0.026 0.014 10 24 10 0.026 4 0 0 0 0 Likely benign 24.7 40589 chr4 119631160 119631160 C T rs11931194 METTL14 Synonymous SNV L358L 0.021 0.023 0.017 9 25 9 0.023 5 1 0 0 0 12.11 40590 chr21 47642609 47642609 G A rs11558754 LSS Synonymous SNV A41A 0.181 0.169 0.177 80 212 65 0.205 52 15 4 7 8 Benign 12.72 40591 chr20 44588904 44588904 G A rs117132825 ZNF335 Nonsynonymous SNV P655S 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 40592 chr4 119736607 119736607 C T rs114611353 SEC24D Synonymous SNV Q224Q 0.022 0.021 0.024 9 26 8 0.023 7 1 0 0 0 7.113 40593 chr4 119736613 119736613 C T rs115118317 SEC24D Synonymous SNV P222P 0.022 0.021 0.024 9 26 8 0.023 7 1 0 0 0 12.33 40594 chr21 47703649 47703649 G A rs11702450 MCM3AP Synonymous SNV N441N 0.449 0.417 0.425 175 527 160 0.449 125 117 37 28 37 0.55 40595 chr21 47704896 47704896 G A rs9975588 MCM3AP Nonsynonymous SNV S102L 0.448 0.419 0.425 175 526 161 0.449 125 117 37 28 37 Benign 27.5 40596 chr22 23230300 23230300 C T rs382768 IGLL5 Nonsynonymous SNV R23C 0.076 0.068 0.092 26 89 26 0.067 27 8 4 3 0 18.81 40597 chr4 120133712 120133712 G A rs6851130 LOC101929762 0 0 0.626 0 0 0 0 184 0 0 62 0 13.75 40598 chr12 10862589 10862589 C T rs145107056 YBX3 Nonsynonymous SNV R233Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27 40599 chr22 23438191 23438191 C T rs1805058 GNAZ Synonymous SNV D103D 0.272 0.276 0.221 86 319 106 0.221 65 46 13 7 6 2.629 40600 chr21 47707039 47707039 - AAAAAA rs530846715 YBEY 0.094 0.099 0.082 31 110 38 0.079 24 22 7 7 8 40601 chr21 35772977 35772977 G C rs61740755 FAM243A, FAM243B Nonsynonymous SNV Q132E 0.061 0.063 0.061 29 72 24 0.074 18 4 1 0 1 0.001 40602 chr22 17600672 17600672 G A rs61741055 TMEM121B Nonsynonymous SNV A449V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.2 40603 chr4 1210654 1210654 A G rs1250092 CTBP1-AS 0 0 0.449 0 0 0 0 132 0 0 27 0 1.323 40604 chr4 121957559 121957559 G A rs34766411 NDNF Synonymous SNV L523L 0.24 0.255 0.259 108 282 98 0.277 76 39 12 4 11 6.504 40605 chr22 23503121 23503121 G A rs5759611 RAB36 Nonsynonymous SNV G285S 0.265 0.292 0.221 91 311 112 0.233 65 43 17 10 5 6.502 40606 chr22 17601271 17601271 G A rs116631558 TMEM121B Synonymous SNV S249S 0.001 0.003 0.01 1 1 1 0.003 3 0 0 1 0 6.153 40607 chr21 47734842 47734842 A G rs117095783 C21orf58 Synonymous SNV L27L 0.108 0.081 0.095 38 127 31 0.097 28 5 1 1 3 1.499 40608 chr22 17640022 17640022 G C rs11550530 HDHD5 Synonymous SNV P40P 0.078 0.06 0.051 28 92 23 0.072 15 6 0 0 1 3.432 40609 chr21 47734844 47734844 G A rs114869542 C21orf58 Nonsynonymous SNV A26V 0.108 0.081 0.095 38 127 31 0.097 28 5 1 1 3 0.887 40610 chr4 121958691 121958691 T C rs3733559 NDNF Synonymous SNV L145L 0.24 0.255 0.262 108 282 98 0.277 77 39 12 4 11 0.283 40611 chr22 23523630 23523630 C A rs5751602 BCR Synonymous SNV I161I 0.273 0.299 0.231 94 320 115 0.241 68 45 18 11 4 10.21 40612 chr20 45000306 45000306 G T ELMO2 Synonymous SNV P535P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.88 40613 chr21 47773103 47773103 C A rs2249057 PCNT Synonymous SNV S396S 0.359 0.336 0.357 143 422 129 0.367 105 81 23 24 25 Benign 13.48 40614 chr4 122075739 122075739 T C rs17051298 TNIP3 Synonymous SNV E153E 0.126 0.104 0.092 53 148 40 0.136 27 10 3 0 4 0.023 40615 chr22 17690430 17690430 C G rs7289141 ADA2 Synonymous SNV L46L 0.104 0.133 0.122 42 122 51 0.108 36 2 5 4 2 3.524 40616 chr4 122254119 122254119 G A rs33977434 QRFPR Synonymous SNV I218I 0.177 0.117 0.163 55 208 45 0.141 48 18 3 3 1 12.34 40617 chr20 45354291 45354291 G A rs2235491 SLC2A10 Nonsynonymous SNV A206T 0.057 0.099 0.061 38 67 38 0.097 18 3 4 1 5 Benign/Likely benign 5.828 40618 chr4 122687238 122687238 A G rs13108419 PP12613 0 0 0.381 0 0 0 0 112 0 0 18 0 0.277 40619 chr11 113565322 113565322 C A rs17115841 TMPRSS5 Synonymous SNV G177G 0.085 0.083 0.095 33 100 32 0.085 28 7 1 3 1 Benign 11.43 40620 chr4 122687491 122687491 G C rs4833772 PP12613 0 0 0.503 0 0 0 0 148 0 0 44 0 1.105 40621 chr21 45168923 45168923 G A rs61737062 PDXK Synonymous SNV P102P 0.032 0.034 0.027 14 38 13 0.036 8 1 0 0 0 11.08 40622 chr21 47805773 47805773 T C rs61735805 PCNT Synonymous SNV S995S 0.041 0.042 0.034 16 48 16 0.041 10 1 0 0 0 Benign 0.761 40623 chr21 47811272 47811272 C T rs3737438 PCNT Synonymous SNV D1281D 0.419 0.393 0.405 166 492 151 0.426 119 105 30 29 37 Benign 9.504 40624 chr4 122854116 122854116 G C rs13121031 TRPC3 Synonymous SNV A26A 0.091 0.096 0.095 33 107 37 0.085 28 8 0 1 1 2.207 40625 chr21 47836653 47836653 C T rs2070425 PCNT Nonsynonymous SNV P2156L 0.312 0.263 0.31 118 366 101 0.303 91 57 15 18 18 Benign 0.1 40626 chr11 113815354 113815354 T G rs78418698 HTR3B Nonsynonymous SNV L312V 0.008 0.016 0 2 9 6 0.005 0 0 0 0 0 Likely benign 0.002 40627 chr21 47838129 47838129 C T rs148444313 PCNT Synonymous SNV V2193V 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.81 40628 chr21 37664501 37664501 G A rs9978057 DOP1B Synonymous SNV R2205R 0.226 0.216 0.201 76 265 83 0.195 59 32 9 7 5 13.15 40629 chr22 18354783 18354783 T G rs5992128 MICAL3 Nonsynonymous SNV M750L 0.044 0.055 0.061 19 52 21 0.049 18 4 1 0 0 7.505 40630 chr21 37736438 37736438 C T rs61741099 MORC3 Synonymous SNV S429S 0.023 0.026 0.02 11 27 10 0.028 6 0 0 0 0 10.16 40631 chr21 47838153 47838153 T G rs61735813 PCNT Nonsynonymous SNV F2201L 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 Benign/Likely benign 2.803 40632 chr4 123276961 123276961 G A rs62321696 KIAA1109 Synonymous SNV L4772L 0.058 0.052 0.075 18 68 20 0.046 22 3 0 1 1 5.39 40633 chr22 18376646 18376646 C T rs113505363 MICAL3 Nonsynonymous SNV E492K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 24.5 40634 chr21 38081480 38081480 C T rs116988298 SIM2 Nonsynonymous SNV A63V 0.066 0.034 0.065 30 78 13 0.077 19 4 0 2 1 23.4 40635 chr22 24122587 24122587 G A rs140618726 MMP11 Nonsynonymous SNV R127Q 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 14.6 40636 chr22 18389548 18389548 G C rs11913706 MICAL3 Nonsynonymous SNV P11A 0.124 0.117 0.095 37 146 45 0.095 28 6 2 2 1 10.08 40637 chr22 24167513 24167513 G A rs2229354 SMARCB1 Synonymous SNV S290S 0.138 0.133 0.129 51 162 51 0.131 38 14 3 3 4 Benign 7.091 40638 chr22 24179132 24179132 G A rs1128127 DERL3 Nonsynonymous SNV A211V 0.162 0.156 0.095 61 190 60 0.156 28 18 4 4 4 22.1 40639 chr21 47918662 47918662 C G rs7283507 DIP2A Nonsynonymous SNV P191A 0.089 0.076 0.082 39 105 29 0.1 24 3 0 1 3 23.3 40640 chr21 47961711 47961711 G A rs2070435 DIP2A Synonymous SNV L650L 0.326 0.292 0.357 128 383 112 0.328 105 65 19 22 20 1.029 40641 chr22 19118992 19118992 A G rs3747052 TSSK2 Nonsynonymous SNV K27R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.7 40642 chr20 47262549 47262549 C T rs6012504 PREX1 Nonsynonymous SNV A1118T 0.079 0.096 0.078 17 93 37 0.044 23 2 1 3 1 11.64 40643 chr22 24226890 24226890 G A rs60699980 SLC2A11 Nonsynonymous SNV A449T 0.086 0.07 0.088 37 101 27 0.095 26 4 1 2 0 25 40644 chr20 62378418 62378418 C T rs74552928 ZBTB46 Synonymous SNV A545A 0.088 0.073 0.102 26 103 28 0.067 30 6 0 2 3 13.12 40645 chr22 19184095 19184095 T C rs1061325 CLTCL1 Nonsynonymous SNV M1316V 0.527 0.589 0.578 212 619 226 0.544 170 162 67 47 57 23.6 40646 chr4 124323277 124323277 C G SPRY1 Nonsynonymous SNV H177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 40647 chr22 24468386 24468386 G A rs17854874 CABIN1 Nonsynonymous SNV R803Q 0.093 0.102 0.078 32 109 39 0.082 23 8 2 0 0 25.5 40648 chr4 1244416 1244416 A G rs1732115 CTBP1-DT 0 0 0.895 0 0 0 0 263 0 0 119 0 0.232 40649 chr21 38599958 38599958 C T rs149833170 VPS26C Nonsynonymous SNV V145M 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 32 40650 chr4 125590478 125590478 T C rs1874748 ANKRD50 Synonymous SNV P1139P 0.101 0.068 0.126 37 119 26 0.095 37 6 1 2 2 0.123 40651 chr22 24564477 24564477 C T rs17854875 CABIN1 Synonymous SNV A1865A 0.119 0.133 0.095 40 140 51 0.103 28 13 3 1 1 17.87 40652 chr21 45733867 45733867 A T rs1057037 PFKL Nonsynonymous SNV D237V 0.096 0.12 0.068 34 113 46 0.087 20 4 2 2 0 Benign 23.9 40653 chr4 125591423 125591423 A T rs3822116 ANKRD50 Synonymous SNV A824A 0.056 0.044 0.075 30 66 17 0.077 22 0 0 1 0 0.003 40654 chr4 125591687 125591687 A G rs3733471 ANKRD50 Synonymous SNV N736N 0.167 0.117 0.197 64 196 45 0.164 58 15 3 6 5 0.943 40655 chr22 24581207 24581207 C T rs3752497 SUSD2 Synonymous SNV L310L 0.043 0.047 0.082 12 50 18 0.031 24 2 0 1 0 8.547 40656 chr4 125592065 125592065 C A rs10018651 ANKRD50 Synonymous SNV A610A 0.167 0.117 0.197 64 196 45 0.164 58 15 3 6 5 15.29 40657 chr4 125592869 125592869 G A rs114589928 ANKRD50 Synonymous SNV A342A 0.008 0.008 0.01 6 9 3 0.015 3 0 0 0 0 9.699 40658 chr22 24582041 24582041 A G rs8141797 SUSD2 Nonsynonymous SNV N466S 0.043 0.052 0.082 12 50 20 0.031 24 2 0 1 0 13.91 40659 chr22 24628928 24628928 G A rs762276 GGT5 Nonsynonymous SNV P78S 0.139 0.156 0.102 54 163 60 0.138 30 12 4 1 6 10.6 40660 chr22 18209920 18209920 C T rs9306198 BCL2L13 Nonsynonymous SNV P80S 0.171 0.201 0.153 66 201 77 0.169 45 20 6 3 5 4.661 40661 chr22 18293502 18293502 C T rs61739631 MICAL3 Synonymous SNV K1841K 0.027 0.026 0.037 8 32 10 0.021 11 0 0 0 0 17.97 40662 chr4 126241253 126241253 G C rs7657251 FAT4 Synonymous SNV V1229V 0.161 0.159 0.17 65 189 61 0.167 50 10 6 1 3 Benign 0.277 40663 chr20 6750882 6750882 T G rs2273073 BMP2 Nonsynonymous SNV S37A 0.023 0.018 0.024 9 27 7 0.023 7 1 0 0 0 Benign 0.001 40664 chr22 24837301 24837301 T C rs5751876 ADORA2A Synonymous SNV Y361Y 0.562 0.492 0.578 189 660 189 0.485 170 192 45 50 47 0.001 40665 chr21 40582823 40582823 C T rs75046572 BRWD1 Synonymous SNV T1311T 0.013 0.005 0.017 4 15 2 0.01 5 0 0 0 0 15.97 40666 chr22 19958811 19958811 C T rs35219372 ARVCF Synonymous SNV A943A 0.033 0.044 0.041 11 39 17 0.028 12 1 0 1 0 19.9 40667 chr12 12247836 12247836 C T rs73053321 BCL2L14 Nonsynonymous SNV S306L 0.017 0.008 0.01 7 20 3 0.018 3 1 0 0 0 29.8 40668 chr22 25145453 25145453 C T rs1892723 PIWIL3 Nonsynonymous SNV V418M 0.956 0.943 0.925 371 1122 362 0.951 272 537 172 128 176 0.009 40669 chr22 19958829 19958829 G A rs5993890 ARVCF Synonymous SNV P937P 0.075 0.07 0.068 30 88 27 0.077 20 3 0 1 0 13.01 40670 chr20 61598731 61598731 C T rs7271712 SLC17A9 Nonsynonymous SNV T397M 0.037 0.023 0.051 21 44 9 0.054 15 0 1 1 0 28.3 40671 chr22 25145471 25145471 A G rs1892722 PIWIL3 Nonsynonymous SNV C412R 0.608 0.604 0.527 245 714 232 0.628 155 222 69 42 75 0.002 40672 chr4 126398400 126398400 T C FAT4 Synonymous SNV H4130H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.013 40673 chr22 25270455 25270455 G C rs9624633 SGSM1 Synonymous SNV R455R 0.168 0.169 0.156 70 197 65 0.179 46 14 7 4 8 10.15 40674 chr22 25282572 25282572 C T rs11914101 SGSM1 Synonymous SNV Y549Y 0.023 0.01 0.02 12 27 4 0.031 6 0 0 0 0 5.744 40675 chr22 25294369 25294369 G A rs2073201 SGSM1 Nonsynonymous SNV R757K 0.049 0.047 0.031 24 58 18 0.062 9 4 1 1 0 0.007 40676 chr12 12483764 12483764 C T rs17375215 MANSC1 Nonsynonymous SNV D165N 0.097 0.109 0.071 43 114 42 0.11 21 7 4 0 1 0.473 40677 chr22 25294376 25294376 C T rs2073202 SGSM1 Synonymous SNV S759S 0.045 0.042 0.027 23 53 16 0.059 8 3 1 1 0 10.97 40678 chr22 25577688 25577688 G A rs763279 KIAA1671 Synonymous SNV E1699E 0.342 0.328 0.344 128 402 126 0.328 101 69 24 20 19 0.636 40679 chr22 20229284 20229284 T G rs770403904 RTN4R Nonsynonymous SNV T458P 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.011 40680 chr20 48600557 48600557 T C rs4647959 SNAI1 Synonymous SNV D93D 0.183 0.148 0.163 95 215 57 0.244 48 23 4 8 15 0.241 40681 chr22 19034079 19034079 A C rs715539 DGCR11 0.229 0.24 0.194 83 269 92 0.213 57 41 13 11 5 0.05 40682 chr20 48600631 48600631 T C rs4647958 SNAI1 Nonsynonymous SNV V118A 0.187 0.154 0.163 95 220 59 0.244 48 24 4 8 15 6.228 40683 chr22 25577733 25577733 T C rs9612887 KIAA1671 Synonymous SNV P1714P 0.485 0.497 0.476 189 569 191 0.485 140 140 48 39 40 0.179 40684 chr22 25586744 25586744 T G rs2330986 KIAA1671 Synonymous SNV V1806V 0.069 0.076 0.061 36 81 29 0.092 18 1 0 1 0 3.877 40685 chr22 20759820 20759820 C T rs772021707 ZNF74 Nonsynonymous SNV P95L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 40686 chr20 48600809 48600809 G A rs1063210 SNAI1 Synonymous SNV T177T 0.187 0.154 0.163 95 220 59 0.244 48 23 4 8 15 14.34 40687 chr22 20779768 20779768 G C rs874101 SCARF2 Nonsynonymous SNV R837G 0.354 0.333 0.548 147 416 128 0.377 161 167 54 50 53 Benign 3.717 40688 chr22 19226898 19226898 T C rs370775478 CLTCL1 Nonsynonymous SNV E232G 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 24.2 40689 chr22 19423250 19423250 G A rs7575 MRPL40 Nonsynonymous SNV R85H 0.193 0.208 0.16 72 226 80 0.185 47 18 11 4 9 12.13 40690 chr22 19468514 19468514 T C rs13447189 CDC45 Synonymous SNV V50V 0.075 0.078 0.061 22 88 30 0.056 18 3 1 0 0 7.803 40691 chr22 26219605 26219605 G A rs4820658 MYO18B Synonymous SNV G885G 0.385 0.419 0.323 151 452 161 0.387 95 85 38 14 30 2.147 40692 chr22 19750773 19750773 T C rs41298814 TBX1 Synonymous SNV F140F 0.225 0.214 0.282 102 264 82 0.262 83 33 8 15 13 Benign 5.51 40693 chr20 62046278 62046278 G C rs1801545 KCNQ2 Synonymous SNV A473A 0.101 0.099 0.092 52 118 38 0.133 27 4 0 2 3 Benign 4.091 40694 chr22 26247456 26247456 G A rs5996988 MYO18B Synonymous SNV G1266G 0.393 0.411 0.344 152 461 158 0.39 101 85 35 18 27 11.19 40695 chr21 42852497 42852497 C T rs12329760 TMPRSS2 Nonsynonymous SNV V197M 0.151 0.154 0.143 69 177 59 0.177 42 17 4 2 6 28.5 40696 chr22 21327589 21327589 C T rs178264 AIFM3 Nonsynonymous SNV P15S 0.114 0.12 0.105 37 134 46 0.095 31 5 1 2 0 4.985 40697 chr4 134072264 134072264 G A rs13144059 PCDH10 Synonymous SNV V323V 0.003 0.005 0.007 4 4 2 0.01 2 0 0 0 0 9.934 40698 chr22 19753449 19753449 A G rs41298840 TBX1 Synonymous SNV A311A 0.21 0.195 0.282 100 247 75 0.256 83 33 8 16 14 Benign 8.569 40699 chr4 134076153 134076153 T C rs2271171 PCDH10 Synonymous SNV D924D 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 3.353 40700 chr20 50235577 50235577 G A rs2295004 ATP9A Synonymous SNV T707T 0.083 0.115 0.095 54 97 44 0.138 28 6 3 1 6 10.6 40701 chr22 21330787 21330787 C T rs7285694 AIFM3 Synonymous SNV A330A 0.368 0.375 0.354 162 432 144 0.415 104 77 27 19 33 16.56 40702 chr22 19754091 19754091 A C rs72646967 TBX1 Nonsynonymous SNV N397H 0.182 0.159 0.109 82 214 61 0.21 32 32 8 9 12 Benign 6.549 40703 chr4 13548796 13548796 T G rs2080023 LINC01096 0 0 0.997 0 0 0 0 293 0 0 146 0 6.838 40704 chr22 26688388 26688388 A C rs35377445 SEZ6L Synonymous SNV G37G 0.195 0.177 0.139 67 229 68 0.172 41 21 11 4 1 0.085 40705 chr22 26830285 26830285 A G rs34902186 ASPHD2 Nonsynonymous SNV N235S 0.137 0.133 0.061 33 161 51 0.085 18 11 4 0 3 12.22 40706 chr22 21383429 21383429 A T rs55700350 SLC7A4 Nonsynonymous SNV F608Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 20.3 40707 chr22 21982892 21982892 C T rs2298428 YDJC Nonsynonymous SNV A263T 0.207 0.193 0.211 92 243 74 0.236 62 27 5 8 9 24.8 40708 chr21 47316240 47316240 T C rs370526643 PCBP3 Synonymous SNV N43N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.614 40709 chr4 141383121 141383121 A T rs12505221 MGAT4D Nonsynonymous SNV L242M 0.261 0.221 0.293 120 306 85 0.308 86 69 13 16 24 9.376 40710 chr21 19713821 19713821 C T rs2824751 TMPRSS15 Synonymous SNV A491A 0.187 0.208 0.265 76 219 80 0.195 78 24 10 12 6 11.43 40711 chr22 21984205 21984205 A G rs710177 YDJC Synonymous SNV A33A 0.413 0.398 0.241 156 485 153 0.4 71 100 28 20 32 0.029 40712 chr4 141578345 141578345 A G rs750752303 TBC1D9 Nonsynonymous SNV L748P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 40713 chr22 26860269 26860269 G C rs2014410 HPS4 Nonsynonymous SNV L438V 0.419 0.406 0.371 165 492 156 0.423 109 99 33 19 34 Benign 0.002 40714 chr22 22599674 22599674 C T rs5995719 VPREB1 Synonymous SNV S120S 0.213 0.227 0.19 91 250 87 0.233 56 26 8 5 10 7.506 40715 chr21 47423040 47423040 A G rs11553518 COL6A1 Nonsynonymous SNV K814R 0.012 0.016 0.02 7 14 6 0.018 6 0 0 0 0 Benign/Likely benign 16.59 40716 chr22 22599705 22599705 G A rs5995720 VPREB1 Nonsynonymous SNV E131K 0.213 0.227 0.19 91 250 87 0.233 56 26 8 5 10 0.003 40717 chr20 54824029 54824029 G A rs3827103 MC3R Nonsynonymous SNV V44I 0.103 0.099 0.129 23 121 38 0.059 38 7 1 2 1 16.68 40718 chr4 144616906 144616906 C T rs7699956 FREM3 Synonymous SNV A1641A 0.102 0.086 0.068 44 120 33 0.113 20 13 3 1 1 10.61 40719 chr20 54940148 54940148 C T rs148836702 FAM210B Synonymous SNV P64P 0.003 0.01 0.01 6 4 4 0.015 3 0 0 0 0 8.07 40720 chr21 43254638 43254638 C T rs146395573 PRDM15 Nonsynonymous SNV G505S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.17 40721 chr21 47532456 47532456 G A rs35881321 COL6A2 Nonsynonymous SNV D227N 0.038 0.052 0.034 16 45 20 0.041 10 1 1 0 0 Benign/Likely benign 16.95 40722 chr4 144621002 144621002 C T rs149219650 FREM3 Nonsynonymous SNV G276D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.159 40723 chr22 28378472 28378472 A G rs5762430 TTC28 Synonymous SNV L2395L 0.271 0.292 0.289 101 318 112 0.259 85 42 18 14 11 7.64 40724 chr21 47536586 47536586 C A rs752020585 COL6A2 Nonsynonymous SNV R317S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.2 40725 chr22 28389453 28389453 T C rs470101 TTC28 Synonymous SNV T1766T 0.091 0.117 0.051 37 107 45 0.095 15 4 5 1 1 12.96 40726 chr4 145655894 145655894 C T rs201997512 HHIP Nonsynonymous SNV P588S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 40727 chr22 28397591 28397591 G T rs138654 TTC28-AS1 0.033 0.036 0.017 14 39 14 0.036 5 2 1 0 0 3.451 40728 chr11 118896002 118896002 G A SLC37A4 Nonsynonymous SNV S341F 0 0 0 2 0 0 0.005 0 0 0 0 0 27.8 40729 chr22 28504183 28504183 G A rs9625408 TTC28 Synonymous SNV R550R 0.049 0.06 0.02 20 58 23 0.051 6 2 1 0 0 7.145 40730 chr21 43412705 43412705 A G rs61751943 ZBTB21 Synonymous SNV N500N 0.052 0.052 0.037 23 61 20 0.059 11 5 1 0 0 0.003 40731 chr22 28504258 28504258 A G rs9625409 TTC28 Synonymous SNV N525N 0.049 0.06 0.02 20 58 23 0.051 6 2 1 0 0 0.035 40732 chr22 29456671 29456671 G A rs35968360 C22orf31 Nonsynonymous SNV A55V 0.011 0.018 0.014 2 13 7 0.005 4 0 0 0 0 0.005 40733 chr22 21328568 21328568 G A rs56179977 AIFM3 Nonsynonymous SNV V165I 0.07 0.057 0.054 13 82 22 0.033 16 2 1 0 0 9.783 40734 chr21 43413651 43413651 T C rs871545 ZBTB21 Nonsynonymous SNV N185S 0.117 0.128 0.116 48 137 49 0.123 34 14 2 0 2 0.001 40735 chr12 18800961 18800961 G C rs61757718 PIK3C2G X1446S 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 10.64 40736 chr22 29533499 29533499 G A rs35612970 KREMEN1 Synonymous SNV A267A 0.176 0.19 0.173 70 207 73 0.179 51 21 4 4 8 13.19 40737 chr22 29533572 29533572 C G rs34920087 KREMEN1 Nonsynonymous SNV L292V 0.176 0.19 0.177 70 207 73 0.179 52 21 4 4 8 4.201 40738 chr12 19427513 19427513 A G rs61755451 PLEKHA5 Synonymous SNV R189R 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign 0.293 40739 chr22 21384578 21384578 C T rs2270384 SLC7A4 Nonsynonymous SNV A349T 0.114 0.068 0.136 40 134 26 0.103 40 11 1 2 0 10.08 40740 chr22 21386019 21386019 G A rs2072550 SLC7A4 Nonsynonymous SNV T28I 0.117 0.073 0.139 40 137 28 0.103 41 11 1 2 0 0.05 40741 chr4 151199080 151199080 G A rs2290846 LRBA Nonsynonymous SNV S2797L 0.223 0.203 0.204 92 262 78 0.236 60 34 8 3 11 Benign 25.9 40742 chr21 30339120 30339120 C A rs34191159 LTN1 Nonsynonymous SNV G565C 0.205 0.198 0.211 80 241 76 0.205 62 29 10 1 8 15.48 40743 chr22 30163526 30163526 A G rs76013375 UQCR10 Nonsynonymous SNV I47V 0.094 0.076 0.082 44 110 29 0.113 24 4 2 1 0 17.26 40744 chr4 151207127 151207127 C T rs3749574 LRBA Nonsynonymous SNV A2692T 0.246 0.245 0.235 107 289 94 0.274 69 37 9 4 12 Benign 19.85 40745 chr22 30403996 30403996 C T rs2074204 MTMR3 Synonymous SNV A328A 0.175 0.169 0.177 81 205 65 0.208 52 19 7 7 11 15.51 40746 chr21 30407208 30407208 G A rs61735763 USP16 Synonymous SNV T97T 0.055 0.049 0.065 20 65 19 0.051 19 1 0 0 0 11.66 40747 chr21 43546509 43546509 G A rs111996953 UMODL1 Nonsynonymous SNV G1124S 0.094 0.109 0.082 35 110 42 0.09 24 2 2 1 5 22 40748 chr4 152682046 152682046 G T rs11556167 GATB Nonsynonymous SNV A30D 0.092 0.115 0.071 27 108 44 0.069 21 5 2 1 0 21.2 40749 chr20 62293273 62293273 C T rs61736622 RTEL1 Synonymous SNV N124N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 10.74 40750 chr21 47754472 47754510 TGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA - rs587784306 PCNT H38_Q50del 0.021 0.026 0.014 10 25 10 0.026 4 1 0 1 1 40751 chr4 153896053 153896053 G A rs61753618 FHDC1 Nonsynonymous SNV R537H 0.007 0.005 0.01 4 8 2 0.01 3 0 0 0 0 29.4 40752 chr20 62324609 62324609 C T rs139221232 RTEL1 Nonsynonymous SNV R766W 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Uncertain significance 18.57 40753 chr4 154478222 154478222 C T rs10001845 TMEM131L Synonymous SNV V179V 0.255 0.255 0.224 91 299 98 0.233 66 35 13 4 17 17.79 40754 chr4 154600807 154600815 TCCTGCTGA - rs34569706 LOC100419170 0 0 0.524 0 0 0 0 154 0 0 51 0 40755 chr22 30770157 30770157 T C rs4820840 KIAA1656 0.086 0.078 0.109 30 101 30 0.077 32 9 3 3 2 0.81 40756 chr21 47831176 47831176 G A rs780082128 PCNT Nonsynonymous SNV R1612Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.6 40757 chr22 30772686 30772686 C T rs2286442 CCDC157 Synonymous SNV G737G 0.121 0.13 0.136 51 142 50 0.131 40 9 5 1 5 15.34 40758 chr21 44190901 44190901 T G rs75225742 PDE9A Nonsynonymous SNV M343R 0.02 0.016 0.02 5 24 6 0.013 6 1 0 0 0 Benign 11.28 40759 chr4 155161887 155161887 A G rs41280475 DCHS2 Synonymous SNV S2387S 0.031 0.034 0.034 15 36 13 0.038 10 0 0 1 0 0.556 40760 chr21 47863757 47863757 A C rs2073380 PCNT Nonsynonymous SNV R3048S 0.215 0.198 0.218 78 252 76 0.2 64 28 9 10 9 Benign 13.29 40761 chr4 155241572 155241572 G A rs11935573 DCHS2 Nonsynonymous SNV S1660L 0.33 0.328 0.31 139 387 126 0.356 91 69 21 14 19 29.7 40762 chr22 30782089 30782089 A G rs5997629 RNF215 Synonymous SNV L157L 0.267 0.31 0.354 105 313 119 0.269 104 41 14 15 13 6.825 40763 chr22 24199704 24199704 C T rs16986337 SLC2A11 Nonsynonymous SNV R10W 0.066 0.049 0.078 30 77 19 0.077 23 2 0 1 0 23.5 40764 chr21 47910523 47910523 A G rs7279002 DIP2A Synonymous SNV P58P 0.266 0.232 0.293 94 312 89 0.241 86 46 13 13 14 4.776 40765 chr22 30793137 30793137 G A rs757660 SEC14L2 Nonsynonymous SNV R11K 0.261 0.297 0.354 106 307 114 0.272 104 41 14 15 14 9.109 40766 chr22 30823196 30823196 T C rs5753130 MTFP1 Synonymous SNV T78T 0.446 0.505 0.5 188 524 194 0.482 147 112 48 33 37 0.636 40767 chr20 57289017 57289017 C T rs35104993 NPEPL1 Synonymous SNV S390S 0.132 0.146 0.095 57 155 56 0.146 28 12 6 3 3 18.16 40768 chr22 30857373 30857373 A C rs2240345 SEC14L3 Nonsynonymous SNV D335E 0.636 0.682 0.646 245 747 262 0.628 190 237 90 58 70 0.479 40769 chr21 47985655 47985655 C T rs2248636 DIP2A Synonymous SNV T1394T 0.099 0.094 0.099 35 116 36 0.09 29 5 4 1 1 13.34 40770 chr22 30857448 30857448 A G rs5749104 SEC14L3 Synonymous SNV D310D 0.62 0.669 0.626 240 728 257 0.615 184 224 86 54 69 0.131 40771 chr4 155256177 155256177 A G rs6858157 DCHS2 Synonymous SNV G852G 0.345 0.336 0.33 148 405 129 0.379 97 78 20 16 23 14 40772 chr22 30864610 30864610 A G rs4820853 SEC14L3 Nonsynonymous SNV I103T 0.376 0.385 0.418 172 442 148 0.441 123 81 31 27 36 20 40773 chr22 17446157 17446157 G T rs1541529 GAB4 Synonymous SNV A277A 0.05 0.042 0.065 20 59 16 0.051 19 1 0 0 1 1.719 40774 chr21 44339038 44339038 T G rs62220807 ERVH48-1 Nonsynonymous SNV I27L 0.042 0.057 0.068 18 49 22 0.046 20 0 2 0 0 5.099 40775 chr22 17450929 17450929 C T rs61741409 GAB4 Nonsynonymous SNV A281T 0.036 0.029 0.061 19 42 11 0.049 18 0 0 0 1 0.003 40776 chr4 15542617 15542617 C T rs199768782 CC2D2A Nonsynonymous SNV P721S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign/Likely benign 31 40777 chr22 17450952 17450952 A G rs11703655 GAB4 Nonsynonymous SNV L273P 0.036 0.029 0.051 19 42 11 0.049 15 0 0 0 1 18.69 40778 chr22 25144912 25144912 C T rs11703684 PIWIL3 Nonsynonymous SNV V471I 0.208 0.188 0.163 91 244 72 0.233 48 23 8 1 7 0.944 40779 chr22 31011610 31011610 G C rs1801198 TCN2 Nonsynonymous SNV R259P 0.658 0.641 0.605 244 773 246 0.626 178 243 73 54 81 Benign 4.508 40780 chr21 32931768 32931768 G A LOC150051 Synonymous SNV G65G 0.001 0.01 0 0 1 4 0 0 0 0 0 0 11.12 40781 chr22 17468918 17468918 C A rs144427521 GAB4 Nonsynonymous SNV W206C 0.04 0.049 0.027 15 47 19 0.038 8 1 0 2 0 22.8 40782 chr20 58461802 58461802 T C rs142942464 SYCP2 Nonsynonymous SNV I818V 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 Benign 0.003 40783 chr4 155467050 155467050 T C rs367824724 PLRG1 Nonsynonymous SNV S135G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.28 40784 chr22 31018975 31018975 T C rs1131603 TCN2 Nonsynonymous SNV L376S 0.084 0.091 0.048 32 99 35 0.082 14 2 0 0 2 Benign 25.6 40785 chr4 155507590 155507590 T C rs6050 FGA Nonsynonymous SNV T331A 0.255 0.245 0.201 84 299 94 0.215 59 35 14 7 12 Benign 0.002 40786 chr22 31032920 31032920 A G rs5997714 SLC35E4 Synonymous SNV P161P 0.635 0.615 0.605 236 746 236 0.605 178 225 68 55 71 0.011 40787 chr21 33830006 33830006 G A rs55878843 EVA1C Synonymous SNV L153L 0.029 0.029 0.048 17 34 11 0.044 14 0 0 0 0 10.67 40788 chr22 31042606 31042606 G A rs148304964 SLC35E4 Nonsynonymous SNV R214K 0.005 0.01 0 0 6 4 0 0 0 1 0 0 0.02 40789 chr22 25570273 25570273 G A rs5760891 KIAA1671 Synonymous SNV L1572L 0.081 0.096 0.075 36 95 37 0.092 22 2 2 0 1 5.095 40790 chr22 31091064 31091064 C T rs41279967 OSBP2 Synonymous SNV P56P 0.06 0.052 0.075 17 71 20 0.044 22 3 1 2 1 14.4 40791 chr22 25599849 25599849 G A rs17670506 CRYBB3 Nonsynonymous SNV R105Q 0.077 0.065 0.051 37 90 25 0.095 15 2 0 0 2 Benign/Likely benign 33 40792 chr22 31091139 31091139 A G rs13053290 OSBP2 Synonymous SNV E81E 0.251 0.253 0.265 100 295 97 0.256 78 40 10 9 14 5.287 40793 chr22 25601196 25601196 C G rs9608378 CRYBB3 Nonsynonymous SNV H113D 0.592 0.643 0.673 242 695 247 0.621 198 213 78 68 67 Benign 9.585 40794 chr20 9495426 9495426 C A rs577572002 LAMP5-AS1 0.016 0.013 0.007 5 19 5 0.013 2 0 0 0 0 21.5 40795 chr22 26164413 26164413 C T rs13058434 MYO18B Nonsynonymous SNV P177L 0.078 0.057 0.054 22 92 22 0.056 16 4 1 2 1 8.631 40796 chr22 18165995 18165995 T G rs2587070 BCL2L13 Nonsynonymous SNV I70R 0.098 0.096 0.088 40 115 37 0.103 26 16 7 1 6 6.942 40797 chr20 9561429 9561429 C T rs55923311 PAK5 Nonsynonymous SNV G118D 0.003 0.003 0 0 3 1 0 0 1 0 0 0 6.353 40798 chr4 15964485 15964485 G A rs758329 FGFBP2 Nonsynonymous SNV P90S 0.411 0.443 0.412 160 483 170 0.41 121 102 32 21 29 0.093 40799 chr4 159791519 159791519 G A rs11946928 FNIP2 Synonymous SNV A595A 0.02 0.018 0.044 6 24 7 0.015 13 0 0 0 0 10.52 40800 chr22 24622648 24622648 T C rs2275984 GGT5 Nonsynonymous SNV K253R 0.291 0.24 0.221 97 342 92 0.249 65 50 9 6 13 0.333 40801 chr22 24717518 24717518 G A rs3747113 SPECC1L Synonymous SNV T190T 0.265 0.206 0.201 91 311 79 0.233 59 42 3 4 12 7.933 40802 chr4 160277276 160277276 C T rs1135004 RAPGEF2 Synonymous SNV P1480P 0.508 0.508 0.531 210 596 195 0.538 156 146 48 45 61 15.67 40803 chr22 31741067 31741067 G A rs714909 PATZ1 Synonymous SNV L174L 0.204 0.229 0.153 71 239 88 0.182 45 25 15 2 8 6.662 40804 chr4 162307312 162307312 C A rs3749598 FSTL5 Nonsynonymous SNV D701Y 0.072 0.081 0.092 23 84 31 0.059 27 3 0 3 0 24.9 40805 chr22 19124865 19124865 C T rs17743887 ESS2 Nonsynonymous SNV V336M 0.062 0.057 0.061 24 73 22 0.062 18 4 1 0 0 21.7 40806 chr4 162841653 162841653 G A rs359502 FSTL5 Synonymous SNV D103D 0.021 0.029 0.017 1 25 11 0.003 5 0 0 0 0 10.03 40807 chr22 19132062 19132062 G A rs113904207 ESS2 Nonsynonymous SNV A31V 0.03 0.023 0.014 9 35 9 0.023 4 0 0 0 0 11.76 40808 chr21 35773137 35773137 C T rs61746786 FAM243A, FAM243B Synonymous SNV A78A 0.037 0.029 0.02 16 44 11 0.041 6 1 0 0 0 12.03 40809 chr21 17172112 17172112 C T rs145029756 USP25 Synonymous SNV L198L 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 13.62 40810 chr22 19175143 19175143 G A rs201296558 CLTCL1 Nonsynonymous SNV A1511V 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 23 40811 chr21 45929105 45929105 C G rs782202330 TSPEAR Nonsynonymous SNV K577N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 40812 chr22 32334021 32334021 T A rs1984388 C22orf24 Nonsynonymous SNV H78L 0.112 0.135 0.122 42 131 52 0.108 36 10 5 3 3 2.048 40813 chr21 17250244 17250244 A C rs149241751 USP25 Nonsynonymous SNV K756Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.68 40814 chr22 25158445 25158445 G A rs56032751 PIWIL3 Nonsynonymous SNV R8C 0.014 0.01 0.007 2 16 4 0.005 2 0 0 0 0 19.19 40815 chr22 32334203 32334203 C T rs3788442 C22orf24 Synonymous SNV P17P 0.076 0.099 0.078 29 89 38 0.074 23 3 3 1 3 1.494 40816 chr22 32334229 32334229 A C rs3788443 C22orf24 Nonsynonymous SNV L9V 0.209 0.201 0.201 87 245 77 0.223 59 49 16 7 11 5.664 40817 chr22 26862041 26862041 G A rs3747129 HPS4 Stop gain R246X 0.149 0.154 0.197 66 175 59 0.169 58 22 3 5 5 2.299 40818 chr22 19423406 19423406 C T rs142584754 MRPL40 Nonsynonymous SNV P137L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 28.4 40819 chr4 165878609 165878609 T A rs3196673 FAM218A 0.333 0.354 0.333 136 391 136 0.349 98 66 24 12 24 2.775 40820 chr22 26879947 26879967 GAGGCGGCGCCCCGGGGGAGA - rs576877626 SRRD R44_G50del 0.284 0.253 0.099 146 333 97 0.374 29 164 48 14 72 40821 chr22 32811952 32811952 A G rs5998478 BPIFC Nonsynonymous SNV S451P 0.505 0.479 0.534 199 593 184 0.51 157 141 41 43 49 16.17 40822 chr20 60885978 60885978 G T rs201094237 LAMA5 Synonymous SNV R3421R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 6.026 40823 chr4 166231868 166231868 A G rs28678193 KLHL2 Synonymous SNV L235L 0.443 0.484 0.49 169 520 186 0.433 144 117 45 36 32 2.186 40824 chr22 33670584 33670584 G A rs17722172 LARGE1 Synonymous SNV N700N 0.063 0.036 0.051 24 74 14 0.062 15 1 0 2 0 Benign/Likely benign 8.636 40825 chr20 60888267 60888267 G A rs142296998 LAMA5 Synonymous SNV S2944S 0.007 0.008 0.01 0 8 3 0 3 0 0 0 0 Benign 10.16 40826 chr21 37661405 37661405 G A rs3827183 DOP1B Nonsynonymous SNV G2139E 0.18 0.159 0.18 68 211 61 0.174 53 18 3 7 3 19.04 40827 chr4 169083694 169083694 A C rs6836994 ANXA10 Nonsynonymous SNV M71L 0.624 0.651 0.66 237 732 250 0.608 194 237 77 60 76 0.082 40828 chr22 28194933 28194933 - TGC rs34890218 MN1 Q550_R551insQ 0.185 0.167 0.116 71 217 64 0.182 34 21 3 4 3 40829 chr22 28195473 28195473 C T rs45463494 MN1 Synonymous SNV P353P 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 11.24 40830 chr4 169086441 169086441 A G rs4405979 ANXA10 Synonymous SNV S148S 0.624 0.654 0.65 236 733 251 0.605 191 236 77 60 75 0.886 40831 chr4 169098914 169098914 A G rs477897 ANXA10 Synonymous SNV T168T 0.221 0.224 0.207 88 260 86 0.226 61 30 9 7 8 0.008 40832 chr22 35478529 35478529 G A rs8140287 ISX Nonsynonymous SNV R83Q 0.08 0.073 0.058 27 94 28 0.069 17 5 1 1 0 34 40833 chr22 28378384 28378384 G C rs41278845 TTC28 Nonsynonymous SNV A2424G 0.089 0.078 0.099 27 104 30 0.069 29 4 2 3 4 0.017 40834 chr22 28559120 28559120 G C rs17486417 TTC28 Synonymous SNV L467L 0.17 0.167 0.146 55 200 64 0.141 43 22 5 6 6 0.013 40835 chr22 35777185 35777185 G C rs2071747 HMOX1 Nonsynonymous SNV D7H 0.03 0.021 0.027 11 35 8 0.028 8 1 0 1 1 18.18 40836 chr12 33049590 33049590 C T rs143004808 PKP2 Nonsynonymous SNV D26N 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 Benign/Likely benign 33 40837 chr22 35802661 35802661 C G rs2307340 MCM5 Nonsynonymous SNV T180S 0.068 0.047 0.058 21 80 18 0.054 17 1 0 2 0 10.67 40838 chr21 28216791 28216791 C T rs61753557 ADAMTS1 Synonymous SNV L161L 0.011 0.01 0.017 3 13 4 0.008 5 1 0 0 0 Benign 11.59 40839 chr22 35947585 35947585 C A rs41279993 RASD2 Synonymous SNV R103R 0.083 0.07 0.112 36 97 27 0.092 33 5 1 5 2 19.45 40840 chr22 29456699 29456699 A G rs9625679 C22orf31 Nonsynonymous SNV C46R 0.072 0.07 0.075 33 84 27 0.085 22 2 2 0 2 23.3 40841 chr22 26829914 26829914 T C rs3747128 ASPHD2 Synonymous SNV P111P 0.131 0.117 0.109 60 154 45 0.154 32 9 0 5 2 0.264 40842 chr22 20077756 20077756 C T rs113891618 DGCR8 Synonymous SNV V427V 0.014 0.008 0.01 3 16 3 0.008 3 0 0 0 0 Benign 15.62 40843 chr22 29469130 29469130 A C rs7292708 KREMEN1 Synonymous SNV P4P 0.09 0.047 0.116 28 106 18 0.072 34 52 9 16 14 0.623 40844 chr22 36424450 36424450 A C rs9607299 RBFOX2 Nonsynonymous SNV H8Q 0.465 0.432 0.446 221 546 166 0.567 131 273 83 65 110 11.45 40845 chr22 29621128 29621128 C G rs743920 EMID1 Nonsynonymous SNV A107G 0.177 0.18 0.139 73 208 69 0.187 41 16 4 4 9 6.071 40846 chr22 26830316 26830316 G A rs11705277 ASPHD2 Synonymous SNV R245R 0.129 0.115 0.109 60 152 44 0.154 32 8 0 5 2 7.933 40847 chr22 36537725 36537725 G A rs61731692 APOL3 Synonymous SNV Y244Y 0.136 0.154 0.112 56 160 59 0.144 33 14 5 0 5 0.104 40848 chr21 28315836 28315836 G A ADAMTS5 Nonsynonymous SNV S423F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 40849 chr22 20819311 20819311 C T KLHL22 Nonsynonymous SNV D316N 0.011 0.008 0 4 13 3 0.01 0 0 0 0 0 18.88 40850 chr22 29656389 29656389 G T rs2231398 RHBDD3 Synonymous SNV A303A 0.399 0.424 0.422 159 469 163 0.408 124 88 33 24 30 9.383 40851 chr4 169911458 169911458 G A rs80133417 CBR4 Nonsynonymous SNV T186M 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 27 40852 chr22 29659960 29659960 C T rs879580 RHBDD3 Synonymous SNV E132E 0.165 0.143 0.153 72 194 55 0.185 45 14 6 1 10 9.536 40853 chr12 40713899 40713899 T C rs35303786 LRRK2 Nonsynonymous SNV M1646T 0.02 0.031 0.01 7 24 12 0.018 3 0 1 0 0 Benign/Likely benign 17.91 40854 chr22 36684354 36684354 T C rs2269529 MYH9 Nonsynonymous SNV I1626V 0.26 0.26 0.252 103 305 100 0.264 74 43 12 11 10 Benign 3.97 40855 chr22 29704125 29704125 C T rs11090564 GAS2L1 Synonymous SNV G10G 0.383 0.398 0.374 169 450 153 0.433 110 92 31 24 39 12.22 40856 chr21 40190443 40190443 C T rs115786160 ETS2 Synonymous SNV S228S 0.035 0.026 0.017 14 41 10 0.036 5 0 2 0 0 12.09 40857 chr20 60908260 60908260 G T LAMA5 Synonymous SNV P1056P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.216 40858 chr22 36684358 36684358 C A rs2269530 MYH9 Synonymous SNV A1624A 0.26 0.26 0.252 104 305 100 0.267 74 43 12 11 10 Benign 13.26 40859 chr12 41330611 41330611 T C rs935105 CNTN1 Synonymous SNV N327N 0.128 0.104 0.122 52 150 40 0.133 36 9 0 4 3 Benign 4.914 40860 chr4 172735851 172735851 G A rs111570068 GALNTL6 Synonymous SNV A40A 0.012 0.013 0.01 2 14 5 0.005 3 0 0 0 0 2.727 40861 chr4 1729556 1729556 G A rs34205238 TACC3 Nonsynonymous SNV E143K 0.17 0.143 0.17 50 200 55 0.128 50 14 2 3 3 0.395 40862 chr21 46330667 46330667 G A rs5030667 ITGB2 Synonymous SNV L11L 0.043 0.044 0.068 19 51 17 0.049 20 1 1 1 0 Conflicting interpretations of pathogenicity 5.224 40863 chr21 30318134 30318134 A G rs77917057 LTN1 Synonymous SNV L1241L 0.039 0.052 0.024 15 46 20 0.038 7 1 1 0 1 17.92 40864 chr4 1730215 1730215 C G rs798757 TACC3 Synonymous SNV G362G 0.211 0.164 0.204 72 248 63 0.185 60 23 5 3 4 6.771 40865 chr22 26860531 26860531 G C HPS4 Synonymous SNV S350S 0.009 0.008 0 0 10 3 0 0 0 0 0 0 0.575 40866 chr22 37266322 37266322 A G rs2075938 NCF4-AS1 0.52 0.573 0.442 210 610 220 0.538 130 225 88 50 73 0.732 40867 chr4 174458022 174458022 T A rs3775588 HAND2-AS1 0 0 0.344 0 0 0 0 101 0 0 15 0 0.048 40868 chr21 46930092 46930092 G A rs144147445 COL18A1 Nonsynonymous SNV A1381T 0.018 0.016 0.02 3 21 6 0.008 6 1 0 0 0 Likely benign 32 40869 chr22 26884152 26884152 C T rs190881971 SRRD Synonymous SNV T136T 0.025 0.013 0.007 2 29 5 0.005 2 0 0 0 0 0.958 40870 chr22 26894879 26894879 G A rs17402286 TFIP11 Synonymous SNV L433L 0.02 0.026 0.024 9 24 10 0.023 7 0 0 0 0 11.17 40871 chr22 30762139 30762139 C T rs41281641 CCDC157 Synonymous SNV L50L 0.102 0.112 0.061 20 120 43 0.051 18 8 2 0 0 16.48 40872 chr22 21800269 21800269 C T rs80230662 HIC2 Nonsynonymous SNV P362L 0.043 0.039 0.014 19 50 15 0.049 4 1 1 0 1 16.22 40873 chr22 30766758 30766758 G C rs200598609 CCDC157 Nonsynonymous SNV K288N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.88 40874 chr12 42840082 42840082 A C rs149559306 PPHLN1 Nonsynonymous SNV N352T 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 12.59 40875 chr22 21988524 21988524 C T rs861854 CCDC116 Nonsynonymous SNV R96C 0.175 0.164 0.18 54 205 63 0.138 53 20 3 6 7 23.6 40876 chr12 42840083 42840083 C G rs569378830 PPHLN1 Nonsynonymous SNV N352K 0.003 0 0 0 3 0 0 0 0 0 0 0 17.35 40877 chr22 21988602 21988602 C T rs861853 CCDC116 Nonsynonymous SNV R122W 0.175 0.164 0.18 54 206 63 0.138 53 20 3 6 7 25.1 40878 chr22 37480797 37480797 C T rs2111833 TMPRSS6 Synonymous SNV S352S 0.293 0.286 0.238 105 344 110 0.269 70 48 15 12 13 Benign 17.16 40879 chr22 37485724 37485724 T C rs2235324 TMPRSS6 Nonsynonymous SNV K244E 0.362 0.354 0.316 133 425 136 0.341 93 71 23 17 24 Benign 0.001 40880 chr20 61039959 61039959 G A rs201116843 GATA5 Nonsynonymous SNV P376L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 1.982 40881 chr22 21988833 21988833 C T rs12170285 CCDC116 Nonsynonymous SNV R199W 0.06 0.06 0.017 26 71 23 0.067 5 0 2 1 0 25.1 40882 chr22 21989325 21989325 C T rs730882 CCDC116 Nonsynonymous SNV R325C 0.061 0.06 0.014 27 72 23 0.069 4 0 2 0 0 16.11 40883 chr12 44167786 44167786 G A rs201500711 IRAK4 Nonsynonymous SNV E100K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23 40884 chr22 21991072 21991072 T C rs861852 CCDC116 Nonsynonymous SNV C519R 0.244 0.234 0.218 86 287 90 0.221 64 35 11 9 10 0.006 40885 chr22 37622815 37622815 A G rs1064498 RAC2 Synonymous SNV A159A 0.141 0.185 0.143 58 165 71 0.149 42 15 5 5 1 Benign 6.685 40886 chr20 61443636 61443636 G A rs13038939 OGFR Synonymous SNV L223L 0.168 0.146 0.167 58 197 56 0.149 49 16 5 5 1 6.868 40887 chr22 37637653 37637653 G C rs2239774 RAC2 Synonymous SNV A27A 0.192 0.208 0.139 72 225 80 0.185 41 19 6 3 5 Benign 1.589 40888 chr20 61443660 61443660 G A rs3204347 OGFR Synonymous SNV P231P 0.155 0.143 0.15 55 182 55 0.141 44 13 5 5 1 5.975 40889 chr20 61443870 61443870 C G rs11086139 OGFR Synonymous SNV P301P 0.161 0.151 0.173 57 189 58 0.146 51 15 5 5 1 4.943 40890 chr4 178262683 178262683 T C rs17676249 NEIL3 Synonymous SNV P252P 0.204 0.185 0.224 103 240 71 0.264 66 20 7 5 12 3.633 40891 chr20 61451332 61451332 C T rs61734651 COL9A3 Nonsynonymous SNV R103W 0.04 0.063 0.044 12 47 24 0.031 13 0 1 0 0 Benign 27.5 40892 chr21 47552204 47552204 G A rs374384263 COL6A2 Nonsynonymous SNV R933H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 40893 chr22 37866063 37866063 G A rs8192548 MFNG Nonsynonymous SNV R288C 0.019 0.008 0 4 22 3 0.01 0 0 0 0 0 33 40894 chr22 29755831 29755831 G A rs143484030 AP1B1 Synonymous SNV A87A 0.013 0.003 0.003 1 15 1 0.003 1 0 0 0 0 17.38 40895 chr21 32931834 32931834 G A LOC150051 Synonymous SNV R87R 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 19.22 40896 chr21 47571845 47571845 C T rs61729391 FTCD Synonymous SNV P139P 0.066 0.078 0.061 36 78 30 0.092 18 3 0 0 2 Benign 12.17 40897 chr22 37964299 37964299 C G rs2281098 CDC42EP1 Synonymous SNV L216L 0.553 0.518 0.466 204 649 199 0.523 137 182 53 34 48 7.728 40898 chr22 30860830 30860830 C T rs2269961 SEC14L3 Nonsynonymous SNV R214H 0.206 0.229 0.163 60 242 88 0.154 48 20 10 3 4 25.3 40899 chr22 37964409 37964429 CAGCGCCTGCTGCAAACCCCT - rs200195385 CDC42EP1 N258_A264del 0.474 0.44 0.435 173 557 169 0.444 128 179 51 31 45 40900 chr22 38120244 38120244 G A rs778407413 TRIOBP Nonsynonymous SNV A561T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.58 40901 chr22 29915087 29915087 G A rs200435124 THOC5 Nonsynonymous SNV S466L 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 26.7 40902 chr4 178911873 178911873 G A rs17065497 LINC01098 0 0 0.122 0 0 0 0 36 0 0 3 0 0.397 40903 chr12 48358203 48358203 A G rs35299693 TMEM106C Nonsynonymous SNV T62A 0.032 0.039 0.017 9 37 15 0.023 5 1 2 0 0 13.48 40904 chr22 38130459 38130459 G T rs8140207 TRIOBP Nonsynonymous SNV E1372D 0.373 0.424 0.408 134 438 163 0.344 120 84 38 24 20 Benign 14.09 40905 chr20 61512424 61512424 C T rs146466196 DIDO1 Synonymous SNV G1628G 0.039 0.018 0.068 18 46 7 0.046 20 2 0 0 1 10.53 40906 chr21 43281767 43281767 C A rs62621406 PRDM15 Nonsynonymous SNV V266L 0.102 0.091 0.109 33 120 35 0.085 32 3 2 1 2 5.842 40907 chr22 38164106 38164106 C T rs4821708 TRIOBP Synonymous SNV Y453Y 0.386 0.43 0.408 136 453 165 0.349 120 89 39 24 21 Benign 12.62 40908 chr22 38205989 38205989 T C rs2285178 GCAT Nonsynonymous SNV L77S 0.376 0.424 0.367 127 442 163 0.326 108 82 39 20 19 0.358 40909 chr4 184192278 184192278 G T rs11734376 WWC2 Nonsynonymous SNV V816F 0.175 0.174 0.194 76 206 67 0.195 57 28 6 5 9 9.581 40910 chr22 38273749 38273749 T C rs9466 EIF3L Synonymous SNV I334I 0.466 0.5 0.463 176 547 192 0.451 136 130 51 34 40 4.314 40911 chr22 31302233 31302233 T C rs3804085 OSBP2 Synonymous SNV D430D 0.307 0.359 0.299 116 361 138 0.297 88 54 22 15 18 2.536 40912 chr22 38323507 38323507 G T rs9610875 MICALL1 Nonsynonymous SNV A519S 0.223 0.245 0.224 95 262 94 0.244 66 34 7 9 7 6.411 40913 chr21 43327810 43327810 A T rs201647017 C2CD2 Nonsynonymous SNV S213T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.001 40914 chr4 184210648 184210648 C T rs191286964 WWC2 Nonsynonymous SNV R1082C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 40915 chr22 31333631 31333631 T C rs3747151 MORC2 Synonymous SNV P479P 0.294 0.349 0.286 112 345 134 0.287 84 49 20 13 18 9.194 40916 chr22 31342376 31342376 G C rs2072132 MORC2 Synonymous SNV T126T 0.289 0.333 0.279 105 339 128 0.269 82 46 17 13 17 8.945 40917 chr21 43329572 43329572 T C rs61735800 C2CD2 Synonymous SNV S183S 0.088 0.096 0.133 36 103 37 0.092 39 3 0 3 1 0.259 40918 chr22 31354653 31354653 G A rs737924 MORC2 Synonymous SNV A32A 0.293 0.346 0.299 112 344 133 0.287 88 53 22 15 18 16.94 40919 chr21 43412640 43412640 G C rs35124464 ZBTB21 Nonsynonymous SNV A522G 0.011 0.021 0.024 11 13 8 0.028 7 1 0 0 0 0.006 40920 chr22 31487701 31487701 C T rs35541583 SMTN Synonymous SNV S556S 0.051 0.039 0.065 27 60 15 0.069 19 1 0 2 0 14.35 40921 chr4 1843324 1843324 C T rs116753949 LETM1 Nonsynonymous SNV R115H 0.066 0.042 0.054 27 78 16 0.069 16 2 1 0 0 11.17 40922 chr22 31491332 31491332 C T rs5997872 SMTN Nonsynonymous SNV A615V 0.131 0.128 0.143 52 154 49 0.133 42 12 3 7 4 12.46 40923 chr4 184600571 184600571 C A rs62357990 TRAPPC11 Synonymous SNV I299I 0.064 0.049 0.054 33 75 19 0.085 16 2 1 0 1 Benign 21.5 40924 chr22 30864655 30864655 A G rs115278158 SEC14L3 Nonsynonymous SNV L88P 0.036 0.029 0.034 12 42 11 0.031 10 0 0 0 0 26.6 40925 chr22 31532960 31532960 C T rs2232183 PLA2G3 Nonsynonymous SNV R378Q 0.335 0.281 0.194 143 393 108 0.367 57 69 18 9 22 11.54 40926 chr22 30866053 30866053 G A rs114438349 SEC14L3 Nonsynonymous SNV R63W 0.036 0.029 0.034 12 42 11 0.031 10 0 0 0 0 34 40927 chr22 31533967 31533967 G A rs2074739 PLA2G3 Synonymous SNV Y265Y 0.644 0.63 0.667 255 756 242 0.654 196 249 76 68 87 4.158 40928 chr22 30888492 30888492 C G rs61744139 SEC14L4 Nonsynonymous SNV E211D 0.037 0.031 0.027 12 44 12 0.031 8 0 0 0 0 24.7 40929 chr21 34925612 34925635 GTCCTGGAGTCTTCGGCTGTGACC - rs779275354 SON A1364_S1371del 0.023 0.018 0.017 3 27 7 0.008 5 0 0 0 0 40930 chr21 34925659 34925659 T C rs148012048 SON Synonymous SNV T1374T 0.023 0.018 0.017 3 27 7 0.008 5 0 0 0 0 Benign 0.751 40931 chr22 39627630 39627630 G C rs55634318 PDGFB Synonymous SNV V151V 0.027 0.023 0.02 6 32 9 0.015 6 0 0 0 0 0.633 40932 chr22 30921371 30921371 T C rs6518698 SEC14L6 Synonymous SNV E349E 0.273 0.242 0.204 101 320 93 0.259 60 51 13 8 13 0.019 40933 chr22 24037306 24037306 T G rs12170464 GUSBP11 0.198 0.18 0.17 54 233 69 0.138 50 25 6 4 6 1.31 40934 chr4 185686065 185686065 G A rs34107464 ACSL1 Synonymous SNV Y424Y 0.041 0.029 0.027 27 48 11 0.069 8 4 0 0 1 9.208 40935 chr22 30921476 30921476 A G rs8135119 SEC14L6 Synonymous SNV I314I 0.046 0.039 0.044 16 54 15 0.041 13 0 0 0 0 0.189 40936 chr20 61885887 61885887 G C rs35796278 FLJ16779 0 0.005 0.041 2 0 2 0.005 12 0 1 6 1 2.456 40937 chr22 30927957 30927957 G C rs61742115 SEC14L6 Nonsynonymous SNV A151G 0.037 0.031 0.031 12 44 12 0.031 9 0 0 0 0 10.23 40938 chr21 34950728 34950728 G A rs141237312 DONSON Nonsynonymous SNV T529I 0.017 0.013 0.01 2 20 5 0.005 3 0 0 0 0 Likely benign 23.9 40939 chr4 185701549 185701549 G T rs1803898 ACSL1 Synonymous SNV I138I 0.307 0.26 0.354 113 360 100 0.29 104 65 12 20 20 8.715 40940 chr4 185940952 185940952 C G rs1078461 HELT Nonsynonymous SNV L62V 0.105 0.128 0.082 34 123 49 0.087 24 5 3 0 3 24.6 40941 chr22 41545152 41545152 G A rs140684440 EP300 Synonymous SNV P758P 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.29 40942 chr22 31838085 31838085 G A rs5997988 EIF4ENIF1 Synonymous SNV S568S 0.52 0.497 0.565 203 611 191 0.521 166 153 51 45 55 2.701 40943 chr4 186294198 186294198 C T rs3797026 LRP2BP Synonymous SNV G205G 0.208 0.24 0.197 78 244 92 0.2 58 28 9 7 4 13.27 40944 chr12 49087325 49087325 T C rs61751603 CCNT1 Nonsynonymous SNV T558A 0.017 0.008 0.02 7 20 3 0.018 6 2 0 0 0 0.056 40945 chr20 61981562 61981562 G C CHRNA4 Nonsynonymous SNV L401V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 40946 chr4 186299260 186299260 A G rs2030802 LRP2BP Synonymous SNV F27F 0.261 0.281 0.289 126 307 108 0.323 85 39 12 10 17 0.003 40947 chr22 30934885 30934885 C T rs118116676 SEC14L6 Nonsynonymous SNV R20Q 0.037 0.031 0.017 11 44 12 0.028 5 0 0 0 0 12.38 40948 chr11 126074192 126074192 A G rs2276312 RPUSD4 Synonymous SNV S245S 0.103 0.104 0.095 38 121 40 0.097 28 4 3 1 0 5.696 40949 chr22 31998612 31998612 G A rs2006771 SFI1 Nonsynonymous SNV R494Q 0.509 0.479 0.568 197 598 184 0.505 167 147 45 48 53 16.95 40950 chr12 49087899 49087899 C T rs35678179 CCNT1 Synonymous SNV Q366Q 0.017 0.008 0.02 7 20 3 0.018 6 2 0 0 0 4.664 40951 chr22 41634010 41634010 G A CHADL Nonsynonymous SNV R356C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 40952 chr22 30951948 30951948 G A rs61739203 GAL3ST1 Synonymous SNV S88S 0.034 0.029 0.041 9 40 11 0.023 12 0 0 0 0 0.178 40953 chr22 30953280 30953280 C T rs55674628 GAL3ST1 Nonsynonymous SNV V34M 0.034 0.029 0.037 9 40 11 0.023 11 0 0 0 0 13.56 40954 chr20 62192969 62192969 G A rs41283020 HELZ2 Nonsynonymous SNV P1705L 0.011 0.016 0.007 6 13 6 0.015 2 0 0 0 0 27.8 40955 chr22 32014161 32014161 G A rs55735011 SFI1 Synonymous SNV P1136P 0.033 0.031 0.017 11 39 12 0.028 5 3 0 0 0 8.362 40956 chr22 31006860 31006860 A G rs9606756 TCN2 Nonsynonymous SNV I23V 0.122 0.096 0.119 47 143 37 0.121 35 10 2 1 2 Benign 1.799 40957 chr22 32015766 32015766 G A rs41282571 PISD Synonymous SNV F294F 0.035 0.026 0.024 10 41 10 0.026 7 3 0 0 0 11.72 40958 chr20 62194298 62194298 G C rs143139621 HELZ2 Synonymous SNV A1390A 0.011 0.016 0.007 6 13 6 0.015 2 0 0 0 0 3.631 40959 chr22 41911525 41911525 C T rs1799932 ACO2 Synonymous SNV L224L 0.435 0.435 0.18 199 511 167 0.51 53 115 39 19 50 Benign 13.21 40960 chr22 32110163 32110163 G A rs140078 PRR14L Nonsynonymous SNV S1221L 0.249 0.26 0.218 88 292 100 0.226 64 39 13 6 10 0.023 40961 chr4 186427735 186427735 G A rs62347360 PDLIM3 Nonsynonymous SNV T78I 0.005 0.01 0.014 5 6 4 0.013 4 0 0 0 0 Benign 12.51 40962 chr22 32112461 32112461 T C rs140081 PRR14L Nonsynonymous SNV N455S 0.249 0.26 0.221 88 292 100 0.226 65 39 13 7 10 0.001 40963 chr22 31013419 31013419 C T rs9621049 TCN2 Nonsynonymous SNV S348F 0.117 0.102 0.112 47 137 39 0.121 33 9 2 1 2 Benign 1.815 40964 chr22 32113269 32113269 C A rs112531886 PRR14L Nonsynonymous SNV V186L 0.034 0.029 0.017 11 40 11 0.028 5 3 0 0 0 24.4 40965 chr21 36079628 36079628 C G rs186013554 CLIC6 Synonymous SNV L475L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.462 40966 chr22 31032836 31032836 G A rs147168080 SLC35E4 Synonymous SNV L133L 0.044 0.042 0.037 20 52 16 0.051 11 0 0 0 2 3.274 40967 chr22 42336172 42336172 G A rs5758511 CENPM Stop gain R3X 0.256 0.292 0.262 93 300 112 0.238 77 41 17 14 9 4.579 40968 chr21 37410477 37410477 T C rs2835239 SETD4 Nonsynonymous SNV I387V 0.066 0.06 0.065 36 78 23 0.092 19 8 0 1 1 11.35 40969 chr22 31042592 31042592 G A rs55846646 SLC35E4 Synonymous SNV L209L 0.027 0.057 0.014 11 32 22 0.028 4 0 0 0 1 10.6 40970 chr4 187004217 187004217 C T rs3775290 TLR3 Synonymous SNV F459F 0.296 0.333 0.286 121 348 128 0.31 84 53 24 15 20 Benign 9.703 40971 chr22 32194581 32194581 A G rs16989495 DEPDC5 Synonymous SNV Q267Q 0.034 0.026 0.02 12 40 10 0.031 6 3 0 0 0 Benign 1.132 40972 chr22 31061506 31061506 G C rs145308917 SLC35E4 Nonsynonymous SNV D216H 0.05 0.044 0.037 18 59 17 0.046 11 1 0 0 2 21.4 40973 chr4 187005881 187005881 G A rs747170185 TLR3 Nonsynonymous SNV D857N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 40974 chr22 18003181 18003181 G A rs138101258 CECR2 Nonsynonymous SNV R168H 0.004 0 0 3 5 0 0.008 0 0 0 0 0 26.2 40975 chr22 32217539 32217539 C T rs16989528 DEPDC5 Nonsynonymous SNV A613V 0.034 0.026 0.024 12 40 10 0.031 7 3 0 0 0 Benign 22.9 40976 chr22 18028710 18028710 A G rs754756745 CECR2 Nonsynonymous SNV S1081G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.208 40977 chr22 42422901 42422901 C T rs756785064 WBP2NL Stop gain R216X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 29.9 40978 chr21 37518582 37518582 G A rs17849671 CBR3 Synonymous SNV T202T 0.054 0.052 0.048 31 63 20 0.079 14 4 0 0 0 13.36 40979 chr21 44323720 44323720 C T rs4148974 NDUFV3 Stop gain R200X 0.032 0.029 0.048 24 38 11 0.062 14 1 0 1 1 34 40980 chr22 31494813 31494813 G C rs80055673 SMTN Nonsynonymous SNV E830Q 0.038 0.039 0.044 14 45 15 0.036 13 1 2 0 2 26 40981 chr22 24982254 24982254 G A rs41277319 LRRC75B Nonsynonymous SNV A183V 0.028 0.044 0.031 16 33 17 0.041 9 1 1 0 0 7.383 40982 chr4 187078819 187078819 C G rs2276923 FAM149A Synonymous SNV S225S 0.181 0.172 0.207 68 212 66 0.174 61 20 5 5 7 10.53 40983 chr4 187088248 187088248 C T rs9991339 FAM149A Nonsynonymous SNV R431W 0.065 0.068 0.085 15 76 26 0.038 25 1 0 3 0 22.3 40984 chr22 31529463 31529463 C A rs35342535 INPP5J Synonymous SNV T366T 0.431 0.438 0.432 161 506 168 0.413 127 106 38 30 29 14.85 40985 chr12 49950982 49950982 T G rs11541357 KCNH3 Synonymous SNV T804T 0.032 0.044 0.024 7 37 17 0.018 7 0 0 0 0 2.917 40986 chr22 42486723 42486723 G A rs1801311 NDUFA6 Nonsynonymous SNV A9V 0.417 0.414 0.364 162 489 159 0.415 107 98 32 16 32 21 40987 chr22 18566288 18566288 C G rs12484657 PEX26 Nonsynonymous SNV L153V 0.017 0.01 0.017 11 20 4 0.028 5 0 0 0 0 Benign 24.1 40988 chr21 44483184 44483184 - TGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG rs876657421 CBS, CBSL Stop gain I173Tfs*16 0.07 0.055 0.071 24 82 21 0.062 21 1 1 1 1 40989 chr21 37617724 37617724 C A rs3746866 DOP1B Nonsynonymous SNV P1149H 0.178 0.141 0.16 70 209 54 0.179 47 19 4 5 6 23.8 40990 chr4 187111822 187111822 C G rs10001084 FLJ38576 0 0 0.85 0 0 0 0 250 0 0 107 0 7.422 40991 chr4 187112090 187112090 C T rs6813815 FLJ38576 0 0 0.857 0 0 0 0 252 0 0 107 0 11.68 40992 chr22 32871365 32871365 G A rs9621461 FBXO7 Nonsynonymous SNV G6E 0.101 0.086 0.099 44 118 33 0.113 29 7 2 1 4 8.137 40993 chr22 42610099 42610099 T C rs34030679 TCF20 Nonsynonymous SNV M405V 0.128 0.141 0.082 44 150 54 0.113 24 9 4 1 1 0.003 40994 chr4 187112141 187112141 A C rs6813694 FLJ38576 0 0 0.98 0 0 0 0 288 0 0 142 0 0.147 40995 chr22 18912677 18912677 C T rs11913840 LOC102724788, PRODH Stop gain W77X 0.054 0.07 0.078 21 63 27 0.054 23 3 2 0 0 Benign 25.4 40996 chr4 187112347 187112347 - GTT rs146592367 FLJ38576 0 0 0.867 0 0 0 0 255 0 0 109 0 40997 chr22 42783070 42783070 G A rs34963472 NFAM1 Stop gain R189X 0.106 0.117 0.105 51 125 45 0.131 31 11 4 3 2 6.415 40998 chr22 25145753 25145753 G A rs1475853 PIWIL3 Nonsynonymous SNV P375S 0.055 0.057 0.085 12 65 22 0.031 25 3 1 0 0 23.4 40999 chr22 32871383 32871383 T G rs8137714 FBXO7 Nonsynonymous SNV L12R 0.221 0.219 0.221 89 259 84 0.228 65 22 10 6 7 Benign 5.75 41000 chr20 62293272 62293272 A G rs3848668 RTEL1 Nonsynonymous SNV N124S 0.059 0.073 0.112 29 69 28 0.074 33 2 2 1 0 0.001 41001 chr4 187112457 187112457 T C rs13102719 FLJ38576 0 0 0.844 0 0 0 0 248 0 0 103 0 0.001 41002 chr22 42793873 42793873 A G rs5996153 NFAM1 Nonsynonymous SNV C181R 0.129 0.156 0.119 55 151 60 0.141 35 12 6 3 2 0.008 41003 chr4 187112629 187112629 G C rs7663027 FLJ38576 0 0 0.371 0 0 0 0 109 0 0 20 0 5.143 41004 chr21 44838330 44838330 C A rs34487963 SIK1, SIK1B Synonymous SNV A518A 0.025 0.016 0.017 10 29 6 0.026 5 0 0 0 0 Benign 13.67 41005 chr22 32875190 32875190 G A rs11107 FBXO7 Star tloss M36I 0.404 0.375 0.415 170 474 144 0.436 122 90 31 22 36 Benign 0.422 41006 chr20 62297400 62297400 T C rs73920935 RTEL1 Synonymous SNV I194I 0.059 0.073 0.112 29 69 28 0.074 33 2 2 1 0 8.555 41007 chr21 38444881 38444881 G A rs73200245 PIGP Nonsynonymous SNV P3S 0.141 0.135 0.119 56 165 52 0.144 35 14 2 2 3 10.08 41008 chr22 32887150 32887150 C T rs9726 FBXO7 Synonymous SNV L238L 0.375 0.346 0.412 162 440 133 0.415 121 90 31 22 36 Benign 16.62 41009 chr22 25573431 25573431 G A rs12168578 KIAA1671 Synonymous SNV E1672E 0.056 0.065 0.065 27 66 25 0.069 19 3 0 0 3 12.68 41010 chr11 130029895 130029895 C T rs372702262 ST14 Synonymous SNV R7R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.87 41011 chr22 31687065 31687065 C T rs202173016 PIK3IP1 Nonsynonymous SNV G65S 0.014 0.026 0.017 5 16 10 0.013 5 0 1 0 0 24.8 41012 chr11 130060569 130060569 G A rs7126904 ST14 Nonsynonymous SNV M285I 0.005 0.003 0.014 2 6 1 0.005 4 0 0 0 0 8.782 41013 chr22 43195147 43195147 A G rs1128013 ARFGAP3 Synonymous SNV S433S 0.551 0.516 0.527 201 647 198 0.515 155 179 52 40 46 0.404 41014 chr22 34046502 34046502 G T rs373853930 LARGE1 Nonsynonymous SNV Q87K 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 20.1 41015 chr22 43203137 43203137 C T rs738535 ARFGAP3 Synonymous SNV S407S 0.527 0.503 0.5 196 619 193 0.503 147 162 48 36 44 12.43 41016 chr20 62327199 62327199 A G rs1056990 RTEL1 Synonymous SNV P1297P 0.07 0.049 0.014 19 82 19 0.049 4 4 0 0 0 0.294 41017 chr22 43206950 43206950 A C rs1018448 ARFGAP3 Nonsynonymous SNV S311R 0.631 0.591 0.612 224 741 227 0.574 180 233 68 54 58 11.39 41018 chr12 50500080 50500080 G A rs34783513 GPD1 Nonsynonymous SNV E101K 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 Benign 22.8 41019 chr22 43278220 43278220 C T rs2899365 PACSIN2 Synonymous SNV P251P 0.545 0.508 0.52 201 640 195 0.515 153 177 48 38 46 6.503 41020 chr4 187454951 187454951 T C rs8192551 MTNR1A Synonymous SNV T315T 0.054 0.039 0.037 19 63 15 0.049 11 0 0 0 0 0.463 41021 chr22 35463225 35463225 C T rs61739193 ISX Nonsynonymous SNV P49S 0.106 0.096 0.102 37 124 37 0.095 30 10 2 1 0 0.008 41022 chr20 62328531 62328531 C T rs189756453 TNFRSF6B Synonymous SNV G137G 0.016 0.021 0 3 19 8 0.008 0 0 0 0 0 Benign 12.79 41023 chr22 43289473 43289473 G A rs5759013 PACSIN2 Synonymous SNV L28L 0.517 0.497 0.476 198 607 191 0.508 140 161 45 32 46 10.78 41024 chr4 187454972 187454972 T C rs8192550 MTNR1A Synonymous SNV R308R 0.053 0.036 0.034 19 62 14 0.049 10 0 0 0 0 0.101 41025 chr22 43455531 43455531 C T rs1132079 TTLL1 Synonymous SNV E250E 0.381 0.388 0.367 149 447 149 0.382 108 86 29 22 29 Benign 9.755 41026 chr22 35463249 35463249 C T rs362090 ISX Nonsynonymous SNV P57S 0.535 0.544 0.524 207 628 209 0.531 154 172 56 37 55 0.003 41027 chr22 32000872 32000872 G A rs8142346 SFI1 Synonymous SNV V610V 0.032 0.039 0.027 11 38 15 0.028 8 0 0 0 0 1.876 41028 chr21 40178042 40178042 A G rs185407591 ETS2 Nonsynonymous SNV R140G 0.043 0.029 0.061 13 50 11 0.033 18 8 2 2 3 11.38 41029 chr22 43459846 43459846 G A rs1052160 TTLL1 Synonymous SNV L240L 0.381 0.391 0.378 149 447 150 0.382 111 85 30 22 29 Benign 11.96 41030 chr20 62369997 62369997 C T rs1151625 LIME1 Nonsynonymous SNV P211L 0.049 0.057 0.071 20 57 22 0.051 21 1 0 1 0 21.7 41031 chr21 45479055 45479055 C T rs2838475 TRAPPC10 Synonymous SNV D250D 0.147 0.117 0.122 49 172 45 0.126 36 17 1 4 4 18.37 41032 chr21 40178043 40178043 G C rs190801053 ETS2 Nonsynonymous SNV R140T 0.038 0.029 0.061 12 45 11 0.031 18 7 2 2 3 8.956 41033 chr22 19750851 19750851 C T rs538317719 TBX1 Synonymous SNV D166D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 14.15 41034 chr22 43525235 43525252 TGCTGCTGGCGCTGCTGC - rs759887547 BIK L143_L148del 0.023 0.021 0 5 27 8 0.013 0 0 0 0 0 41035 chr22 32108997 32108997 T C rs112942579 PRR14L Nonsynonymous SNV T1610A 0.015 0.026 0.014 5 18 10 0.013 4 0 1 0 0 24.7 41036 chr21 40190408 40190408 C A rs61735785 ETS2 Nonsynonymous SNV L217I 0.02 0.005 0.024 8 24 2 0.021 7 0 0 0 0 Benign 15.54 41037 chr22 43529314 43529314 G C rs13815 MCAT Nonsynonymous SNV A303G 0.622 0.646 0.619 239 730 248 0.613 182 224 78 60 73 8.023 41038 chr22 35742925 35742925 T G rs743810 TOM1 Synonymous SNV G384G 0.194 0.19 0.133 92 228 73 0.236 39 36 8 9 19 0.108 41039 chr22 35743124 35743124 G C rs2071745 TOM1 Synonymous SNV G422G 0.239 0.221 0.211 102 281 85 0.262 62 34 7 11 19 0.159 41040 chr22 32109911 32109911 T C rs35027698 PRR14L Nonsynonymous SNV E1305G 0.015 0.026 0.014 5 18 10 0.013 4 0 1 0 0 8.75 41041 chr22 43558972 43558972 G A rs6972 TSPO Nonsynonymous SNV R162H 0.235 0.169 0.228 91 276 65 0.233 67 39 7 4 9 15.08 41042 chr22 35815880 35815880 G A rs133427 MCM5 Synonymous SNV K569K 0.085 0.083 0.051 32 100 32 0.082 15 4 0 0 1 6.432 41043 chr22 32111442 32111442 C T rs41496947 PRR14L Nonsynonymous SNV V795I 0.015 0.026 0.014 5 18 10 0.013 4 0 1 0 0 6.072 41044 chr20 62407176 62407176 G A rs35738769 ZBTB46 Synonymous SNV D359D 0.068 0.044 0.061 21 80 17 0.054 18 3 0 0 0 3.245 41045 chr22 43568512 43568512 C T rs34074034 TTLL12 Nonsynonymous SNV V464M 0.233 0.185 0.262 89 274 71 0.228 77 37 6 9 11 33 41046 chr22 36122930 36122930 C T rs2076671 APOL5 Nonsynonymous SNV T272M 0.292 0.318 0.31 133 343 122 0.341 91 53 20 15 25 14.3 41047 chr20 62421622 62421622 A G rs755017 ZBTB46 Synonymous SNV A163A 0.057 0.078 0.068 33 67 30 0.085 20 2 1 2 1 association 0.009 41048 chr22 26423124 26423124 G C rs6004901 MYO18B Nonsynonymous SNV G2396A 0.053 0.034 0.058 22 62 13 0.056 17 1 0 2 0 0.026 41049 chr20 62422080 62422080 T C rs2281929 ZBTB46 Nonsynonymous SNV T11A 0.056 0.078 0.068 33 66 30 0.085 20 2 1 2 1 0.004 41050 chr22 32113080 32113080 A G rs4296524 PRR14L Synonymous SNV L249L 0.015 0.026 0.017 5 18 10 0.013 5 0 1 0 0 2.669 41051 chr22 26423584 26423584 A G rs34167609 MYO18B Synonymous SNV P2549P 0.028 0.029 0.041 15 33 11 0.038 12 0 0 1 1 0.019 41052 chr20 62493384 62493384 C T rs6011194 ABHD16B Nonsynonymous SNV P164L 0.003 0.016 0.007 3 3 6 0.008 2 0 0 0 1 9.078 41053 chr22 32229931 32229931 C T rs16989535 DEPDC5 Nonsynonymous SNV S634F 0.014 0.026 0.007 4 16 10 0.01 2 0 1 0 0 Benign 22.9 41054 chr22 36124860 36124860 C G rs2076673 APOL5 Nonsynonymous SNV S406C 0.309 0.326 0.306 136 363 125 0.349 90 58 21 15 27 21.4 41055 chr22 20918916 20918921 CAGCAG - rs776653481 MED15 Q146_Q147del 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 41056 chr21 45759045 45759045 C T rs11870 CFAP410 Synonymous SNV R11R 0.241 0.25 0.218 103 283 96 0.264 64 34 13 9 15 Benign 15.4 41057 chr21 40768841 40768841 T C rs117922305 GET1 Synonymous SNV A133A 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 10.77 41058 chr20 62593704 62593704 G A rs817322 ZNF512B Synonymous SNV L729L 0.01 0.026 0.014 11 12 10 0.028 4 0 0 0 1 11.02 41059 chr21 40778182 40778182 C T rs11558767 LCA5L Nonsynonymous SNV G547S 0.094 0.076 0.092 31 110 29 0.079 27 4 2 1 0 6.386 41060 chr21 45786670 45786670 G A rs146154065 TRPM2 Nonsynonymous SNV V153M 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Likely benign 3.616 41061 chr22 43619200 43619200 G A rs6003114 SCUBE1 Synonymous SNV R410R 0.324 0.339 0.303 131 380 130 0.336 89 64 20 14 18 7.158 41062 chr22 32233028 32233028 C G rs16989537 DEPDC5 Synonymous SNV L669L 0.014 0.026 0.007 4 16 10 0.01 2 0 1 0 0 Benign 9.136 41063 chr22 36537763 36537763 C T rs61741884 APOL3 Nonsynonymous SNV V232M 0.097 0.089 0.092 26 114 34 0.067 27 8 0 1 3 23 41064 chr22 21348914 21348914 C T rs4822790 LZTR1 Synonymous SNV R561R 0.117 0.112 0.139 51 137 43 0.131 41 6 2 2 4 Benign 16.61 41065 chr4 189012680 189012680 G A rs17881718 TRIML2 Synonymous SNV T412T 0.185 0.164 0.122 58 217 63 0.149 36 19 7 3 5 7.995 41066 chr21 45846544 45846544 C T rs144380426 TRPM2 Nonsynonymous SNV T1266M 0.01 0.016 0 5 12 6 0.013 0 0 1 0 0 Likely benign 9.829 41067 chr12 51458016 51458016 T C rs372812295 CSRNP2 Nonsynonymous SNV Q382R 0 0 0 0 0 0 0 0 0 0 0 0 22.9 41068 chr22 32815354 32815354 T C BPIFC Nonsynonymous SNV I419V 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 9.8 41069 chr4 1988188 1988188 - CT rs3034718 MIR943 0.038 0.013 0.19 19 45 5 0.049 56 14 2 6 8 41070 chr20 62701627 62701627 G A rs6010714 TCEA2 Nonsynonymous SNV V178I 0.014 0.026 0.02 8 17 10 0.021 6 0 0 0 1 18.98 41071 chr4 1988193 1988193 T C rs1077020 MIR943 0.033 0.013 0.184 16 39 5 0.041 54 12 2 6 7 2.136 41072 chr4 22425877 22425877 A G rs61744997 ADGRA3 Synonymous SNV I514I 0.053 0.047 0.065 24 62 18 0.062 19 1 0 0 2 7.031 41073 chr22 44368204 44368204 A G rs3177036 SAMM50 Synonymous SNV G137G 0.433 0.43 0.483 158 508 165 0.405 142 110 37 35 33 10.56 41074 chr22 34022284 34022284 G A rs86487 LARGE1 Synonymous SNV A145A 0.55 0.539 0.514 226 646 207 0.579 151 171 53 43 65 Benign 17.25 41075 chr22 37271802 37271802 C T rs2072712 NCF4 Synonymous SNV Y245Y 0.078 0.068 0.075 25 92 26 0.064 22 4 1 0 0 Benign 12.5 41076 chr22 44386281 44386281 C T rs7587 SAMM50 Synonymous SNV G453G 0.127 0.13 0.119 50 149 50 0.128 35 10 2 2 4 13.37 41077 chr22 26936897 26936897 G A rs12169509 TPST2 Synonymous SNV L234L 0.187 0.172 0.139 86 219 66 0.221 41 21 10 4 11 7.734 41078 chr21 42551433 42551433 - GGGTGAGTGAGGGTGTCCAGGGTGAGGAGTGAGGGTGTCA PLAC4 0.112 0.081 0.01 51 132 31 0.131 3 29 5 1 10 41079 chr22 36007045 36007045 G A rs7292 MB Synonymous SNV T68T 0.487 0.451 0.466 189 572 173 0.485 137 136 39 31 48 7.449 41080 chr22 37273742 37273742 G A rs11552115 NCF4 Synonymous SNV S299S 0.079 0.068 0.075 26 93 26 0.067 22 4 1 0 0 Benign 0.696 41081 chr22 36007075 36007075 C T rs7293 MB Synonymous SNV A58A 0.491 0.453 0.459 187 576 174 0.479 135 139 39 31 48 12.34 41082 chr22 22599380 22599380 G A rs9619852 VPREB1 Synonymous SNV L22L 0.07 0.042 0.061 33 82 16 0.085 18 3 0 1 0 1.203 41083 chr22 22842664 22842664 T C rs41277495 ZNF280B Nonsynonymous SNV T354A 0.008 0 0 2 9 0 0.005 0 1 0 0 0 21.5 41084 chr22 37458586 37458586 C T rs116956945 KCTD17 Nonsynonymous SNV R219W 0.085 0.07 0.041 31 100 27 0.079 12 2 2 1 0 Benign 17.6 41085 chr4 24838984 24838984 G A rs58692972 CCDC149 Synonymous SNV D176D 0.018 0.016 0.007 13 21 6 0.033 2 0 0 0 0 8.319 41086 chr22 45128232 45128232 T C rs8141631 PRR5 Synonymous SNV R77R 0.23 0.203 0.228 91 270 78 0.233 67 30 5 7 6 4.601 41087 chr4 24896658 24896658 C T rs12511068 CCDC149 Nonsynonymous SNV V7I 0.175 0.148 0.187 63 206 57 0.162 55 21 6 3 7 2.213 41088 chr22 45218281 45218281 C G rs746900149 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV F139L 0.003 0 0 0 4 0 0 0 0 0 0 0 12.99 41089 chr22 45258324 45258324 C T rs2071762 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV P384L 0.196 0.177 0.19 74 230 68 0.19 56 21 9 4 9 1.131 41090 chr22 29704662 29704662 C G rs56037813 GAS2L1 Synonymous SNV P189P 0.023 0.023 0.044 13 27 9 0.033 13 0 0 0 0 10.97 41091 chr12 52214344 52214344 G - FIGNL2 S619Pfs*71 0 0 0 0 0 0 0 0 0 0 0 0 41092 chr22 37578579 37578579 C T rs229519 C1QTNF6 Synonymous SNV T162T 0.261 0.289 0.289 103 306 111 0.264 85 44 23 14 14 10.39 41093 chr4 25408838 25408838 G A rs34811474 ANAPC4 Nonsynonymous SNV R466Q 0.158 0.167 0.17 49 186 64 0.126 50 23 5 3 2 23.8 41094 chr12 52284447 52284447 C T rs35680116 ANKRD33 Synonymous SNV T45T 0.054 0.042 0.061 17 63 16 0.044 18 2 0 0 0 8.914 41095 chr21 43187085 43187085 C T rs147023104 RIPK4 Synonymous SNV V39V 0.037 0.036 0.027 15 43 14 0.038 8 1 2 1 0 Benign 17.96 41096 chr12 52285090 52285090 G A rs143960014 ANKRD33 Nonsynonymous SNV G193E 0.041 0.039 0.041 18 48 15 0.046 12 0 0 1 1 12.46 41097 chr12 52435632 52435632 A C rs138157115 NR4A1 Synonymous SNV R27R 0.047 0.044 0.058 17 55 17 0.044 17 1 0 1 1 4.513 41098 chr12 662873 662873 C T rs148059237 B4GALNT3 Nonsynonymous SNV A595V 0.064 0.049 0.017 17 75 19 0.044 5 3 1 0 0 10.79 41099 chr21 46687469 46687469 G A rs115237543 POFUT2 Nonsynonymous SNV S391L 0.018 0.013 0.027 13 21 5 0.033 8 0 0 0 0 0.654 41100 chr12 52448343 52448343 A G rs140373610 NR4A1 Synonymous SNV P77P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 6.193 41101 chr4 26417136 26417136 T C rs2270226 RBPJ Synonymous SNV S43S 0.58 0.602 0.575 230 681 231 0.59 169 203 74 50 71 7.283 41102 chr21 43242388 43242388 G A rs139162933 PRDM15 Synonymous SNV I626I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 13.75 41103 chr22 29957570 29957570 G A rs1058642 NIPSNAP1 Synonymous SNV L148L 0.212 0.19 0.238 86 249 73 0.221 70 26 5 10 9 11.35 41104 chr22 37603021 37603021 G A rs2071710 SSTR3 Synonymous SNV Y274Y 0.208 0.232 0.228 81 244 89 0.208 67 29 12 9 11 4.902 41105 chr22 37603051 37603051 C T rs229569 SSTR3 Synonymous SNV A264A 0.212 0.234 0.231 81 249 90 0.208 68 30 12 9 11 13.66 41106 chr4 2814148 2814148 A G rs1709004 SH3BP2 Synonymous SNV T8T 0.031 0.026 0.041 9 36 10 0.023 12 0 0 0 0 0.026 41107 chr22 30200713 30200713 G A rs36571 ASCC2 Nonsynonymous SNV P245S 0.026 0.018 0.041 15 30 7 0.038 12 0 0 0 0 0.005 41108 chr20 9520133 9520133 G A rs6039495 PAK5 Synonymous SNV L712L 0.033 0.031 0.037 9 39 12 0.023 11 0 0 0 0 12.34 41109 chr12 52579294 52579294 G A rs17704675 KRT80 Synonymous SNV F126F 0.101 0.089 0.122 34 119 34 0.087 36 5 3 3 1 9.645 41110 chr22 37603390 37603390 C T rs86582 SSTR3 Synonymous SNV S151S 0.213 0.234 0.231 82 250 90 0.21 68 30 12 9 11 13.75 41111 chr22 30200761 30200761 C G rs28265 ASCC2 Nonsynonymous SNV D229H 0.026 0.021 0.041 15 30 8 0.038 12 0 0 0 0 17.32 41112 chr4 2826376 2826376 C T rs140326137 SH3BP2 Synonymous SNV N92N 0.013 0.01 0.034 6 15 4 0.015 10 0 0 0 0 Benign 15.54 41113 chr22 37603744 37603744 C T rs86583 SSTR3 Synonymous SNV A33A 0.216 0.234 0.231 86 254 90 0.221 68 31 12 9 11 4.481 41114 chr22 37398195 37398195 C T rs743749 TEX33 Nonsynonymous SNV A58T 0.198 0.214 0.218 86 233 82 0.221 64 23 10 4 7 0.025 41115 chr22 30221120 30221120 C T rs11549795 ASCC2 Nonsynonymous SNV V9I 0.026 0.021 0.041 15 30 8 0.038 12 0 0 0 0 17.66 41116 chr4 2826912 2826912 C G rs16843413 SH3BP2 Synonymous SNV P139P 0.086 0.109 0.112 23 101 42 0.059 33 6 2 0 0 Benign 6.026 41117 chr22 37398201 37398201 C A rs743750 TEX33 Nonsynonymous SNV A56S 0.199 0.216 0.221 89 234 83 0.228 65 23 11 5 8 0.593 41118 chr21 43411549 43411551 CCT - rs140397626 ZBTB21 E885del 0.072 0.06 0.082 26 85 23 0.067 24 3 1 0 1 41119 chr22 30416527 30416527 A G rs41278853 MTMR3 Nonsynonymous SNV N960S 0.026 0.023 0.037 16 31 9 0.041 11 0 0 0 0 1.887 41120 chr22 30737771 30737771 G T rs34244534 SF3A1 Synonymous SNV V327V 0.025 0.039 0.017 10 29 15 0.026 5 0 0 0 0 11.92 41121 chr22 45767391 45767391 C T rs9614653 SMC1B Nonsynonymous SNV R758Q 0.13 0.13 0 45 153 50 0.115 0 3 5 0 0 22.4 41122 chr21 46927489 46927489 A G rs12483761 COL18A1 Synonymous SNV T1254T 0.093 0.109 0.105 27 109 42 0.069 31 2 3 4 0 Benign 0.014 41123 chr22 37906309 37906314 CTCCTT - rs113275238 CARD10 K272_E273del 0.317 0.313 0.276 107 372 120 0.274 81 68 22 16 17 41124 chr22 38046695 38046695 C A rs12170939 SH3BP1 Nonsynonymous SNV P521T 0.154 0.154 0.16 55 181 59 0.141 47 17 7 5 2 6.602 41125 chr22 45782903 45782903 T C rs6007010 SMC1B Synonymous SNV L585L 0.41 0.38 0.435 183 481 146 0.469 128 102 29 29 45 3.531 41126 chr22 38051355 38051355 G A rs762989 SH3BP1 Synonymous SNV P590P 0.107 0.102 0 43 126 39 0.11 0 16 4 0 5 6.295 41127 chr21 16340198 16340198 T C rs141953207 NRIP1 Nonsynonymous SNV M106V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.027 41128 chr4 3417845 3417845 G C rs3213507 RGS12 Synonymous SNV L160L 0.25 0.255 0.296 118 294 98 0.303 87 35 10 13 16 5.416 41129 chr12 1036042 1036042 C T rs7487683 RAD52 Nonsynonymous SNV G180R 0.035 0.049 0.044 14 41 19 0.036 13 0 0 0 0 3.132 41130 chr22 37581383 37581383 C T rs7290488 C1QTNF6 Nonsynonymous SNV G55D 0.169 0.195 0.129 80 198 75 0.205 38 14 7 4 8 12.1 41131 chr21 47404302 47404302 G A rs11553519 COL6A1 Nonsynonymous SNV S116N 0.049 0.047 0.065 13 58 18 0.033 19 0 0 2 0 Benign 0.141 41132 chr22 46643023 46643023 A C rs55641018 CDPF1 Nonsynonymous SNV L70R 0.095 0.109 0.068 25 111 42 0.064 20 3 1 3 0 12.49 41133 chr22 38121040 38121040 C T rs41296243 TRIOBP Nonsynonymous SNV S826L 0.043 0.029 0.024 18 50 11 0.046 7 2 0 0 0 Benign 22.5 41134 chr4 3449886 3449886 G A rs28468427 HGFAC Synonymous SNV E556E 0.227 0.234 0.252 78 267 90 0.2 74 29 13 15 10 6.128 41135 chr21 43531595 43531595 C T rs368915737 UMODL1 Nonsynonymous SNV P683S 0.009 0.003 0 0 11 1 0 0 0 0 0 0 12.42 41136 chr22 37602837 37602837 G A rs4988469 SSTR3 Nonsynonymous SNV R336C 0.004 0 0.007 0 5 0 0 2 0 0 0 0 14.96 41137 chr21 47538537 47538537 G A COL6A2 Nonsynonymous SNV G376S 0 0 0 0 0 0 0 0 0 0 0 0 32 41138 chr22 37699377 37699377 T C rs2239822 CYTH4 Synonymous SNV F153F 0.598 0.586 0.582 257 702 225 0.659 171 215 64 51 91 0.611 41139 chr22 46644177 46644177 G A rs61748935 CDPF1 Nonsynonymous SNV A2V 0.08 0.091 0.058 20 94 35 0.051 17 2 0 2 0 11.21 41140 chr21 19726126 19726126 G A rs149710792 TMPRSS15 Nonsynonymous SNV T312I 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 27.6 41141 chr22 37707072 37707072 C T rs56378525 CYTH4 Synonymous SNV T227T 0.044 0.044 0.054 20 52 17 0.051 16 0 1 1 0 12.24 41142 chr4 3589623 3589623 G A rs10937959 LINC00955 0 0 0.5 0 0 0 0 147 0 0 0 0 5.639 41143 chr4 3589669 3589669 - ACTTCCTGGTGCACCTGC rs376169500 LINC00955 0 0 0.35 0 0 0 0 103 0 0 0 0 41144 chr4 3589689 3589689 C A rs7657417 LINC00955 0 0 0.5 0 0 0 0 147 0 0 0 0 9.076 41145 chr4 3589720 3589720 A - rs59190481 LINC00955 0 0 0.599 0 0 0 0 176 0 0 29 0 41146 chr4 3590683 3590683 T G rs62272966 LINC00955 0 0 0.497 0 0 0 0 146 0 0 0 0 0.013 41147 chr22 46655779 46655779 G C rs36125344 PKDREJ Nonsynonymous SNV I1147M 0.123 0.117 0.099 44 144 45 0.113 29 8 0 2 2 0.002 41148 chr4 3590711 3590711 G T rs62272967 LINC00955 0 0 0.5 0 0 0 0 147 0 0 0 0 0.009 41149 chr22 38051493 38051493 G T rs117382629 SH3BP1 Synonymous SNV R636R 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 6.124 41150 chr4 3590730 3590730 G A rs62272968 LINC00955 0 0 0.497 0 0 0 0 146 0 0 0 0 23.6 41151 chr4 3590817 3590817 T C rs62272969 LINC00955 0 0 0.497 0 0 0 0 146 0 0 0 0 0.008 41152 chr12 3389559 3389559 C T rs877089 TSPAN9 Synonymous SNV N114N 0.021 0.021 0.034 20 25 8 0.051 10 0 0 0 0 16.35 41153 chr4 3590878 3590878 C T rs62272970 LINC00955 0 0 0.493 0 0 0 0 145 0 0 0 0 6.374 41154 chr4 3591015 3591015 A C rs62272971 LINC00955 0 0 0.5 0 0 0 0 147 0 0 0 0 0.004 41155 chr21 43902774 43902774 T C rs139625725 RSPH1 Synonymous SNV Q144Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 0.004 41156 chr22 38204089 38204089 C T rs710187 GCAT Nonsynonymous SNV R39C 0.475 0.461 0.384 188 558 177 0.482 113 136 46 30 48 25.7 41157 chr4 3591049 3591049 C T rs62272972 LINC00955 0 0 0.5 0 0 0 0 147 0 0 0 0 7.953 41158 chr4 3591069 3591069 C T rs62272973 LINC00955 0 0 0.5 0 0 0 0 147 0 0 0 0 0.975 41159 chr21 28217059 28217059 C T rs61750213 ADAMTS1 Nonsynonymous SNV G72E 0.008 0.013 0.003 5 9 5 0.013 1 0 0 0 0 2.076 41160 chr21 28296389 28296389 A G rs3746839 ADAMTS5 Synonymous SNV L926L 0.047 0.029 0.027 26 55 11 0.067 8 0 0 0 2 6.399 41161 chr22 38221032 38221032 C T rs571021482 GALR3 Nonsynonymous SNV A221V 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 10.79 41162 chr4 36258197 36258197 T C rs7686575 LOC439933 0 0 0.946 0 0 0 0 278 0 0 131 0 0.092 41163 chr12 4700352 4700352 G A rs35827006 DYRK4 Synonymous SNV P2P 0.021 0.018 0.017 7 25 7 0.018 5 0 0 0 1 11.49 41164 chr22 24627486 24627486 G A rs768749416 GGT5 Nonsynonymous SNV T179M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 31 41165 chr22 46658978 46658978 T C rs112735000 PKDREJ Nonsynonymous SNV H81R 0.108 0.073 0.007 33 127 28 0.085 2 19 3 1 5 0.001 41166 chr12 4735770 4735770 G A rs34392018 AKAP3 Synonymous SNV D766D 0.017 0.016 0.017 7 20 6 0.018 5 0 0 0 1 0.002 41167 chr4 37445885 37445885 T C rs11724784 NWD2 Synonymous SNV L759L 0.242 0.25 0.241 68 284 96 0.174 71 32 20 8 5 0.008 41168 chr22 46668262 46668262 G A rs896111969 TTC38 Nonsynonymous SNV G48S 0.008 0 0 1 9 0 0.003 0 0 0 0 0 33 41169 chr4 37592128 37592128 G A rs2973275 C4orf19 Nonsynonymous SNV A151T 0.218 0.237 0.255 91 256 91 0.233 75 21 7 9 10 9.707 41170 chr22 38482353 38482394 TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA - rs371997714 BAIAP2L2 I441_R454del 0.283 0.315 0.269 113 332 121 0.29 79 66 22 16 17 41171 chr4 3769329 3769329 G A rs185354316 ADRA2C Synonymous SNV A332A 0.086 0.104 0.126 19 101 40 0.049 37 9 6 7 1 1.477 41172 chr22 32044166 32044166 C T rs34103525 PISD Nonsynonymous SNV G5S 0.02 0.021 0.01 10 24 8 0.026 3 0 0 0 0 24.7 41173 chr22 38483155 38483155 - TCATGGGTG rs142739979 BAIAP2L2 M411_N412insTPM 0.37 0.372 0.364 133 434 143 0.341 107 78 23 22 27 41174 chr4 37836302 37836302 T C rs3752683 PGM2 Synonymous SNV S104S 0.25 0.271 0.272 99 294 104 0.254 80 43 15 9 15 0.219 41175 chr21 45104489 45104489 C T rs142705199 RRP1B Nonsynonymous SNV T316M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.2 41176 chr4 37857342 37857342 G C rs11554509 PGM2 Synonymous SNV L572L 0.146 0.146 0.129 46 171 56 0.118 38 17 5 4 3 12.31 41177 chr22 46682976 46682976 C T rs55653327 TTC38 Nonsynonymous SNV P281S 0.114 0.109 0.085 45 134 42 0.115 25 6 0 0 2 23.8 41178 chr22 46685380 46685380 C T rs11705624 TTC38 Synonymous SNV D388D 0.118 0.112 0.095 45 138 43 0.115 28 7 0 1 2 9.81 41179 chr22 39178701 39178701 A G rs760482 DNAL4 Synonymous SNV D12D 0.284 0.313 0.299 117 333 120 0.3 88 49 22 16 16 Benign 6.998 41180 chr22 39222652 39222652 G A rs5757299 NPTXR Synonymous SNV Y317Y 0.388 0.422 0.401 168 456 162 0.431 118 86 30 25 35 10.39 41181 chr21 30435835 30435835 T C rs139983851 CCT8 Nonsynonymous SNV K187R 0.012 0.018 0 5 14 7 0.013 0 0 0 0 0 20.8 41182 chr12 52966368 52966368 C T rs78832381 KRT74 Synonymous SNV K185K 0.043 0.039 0.048 20 51 15 0.051 14 2 0 1 2 13.91 41183 chr22 39496336 39496336 G T rs139293 APOBEC3H Nonsynonymous SNV R18L 0.294 0.299 0.214 97 345 115 0.249 63 49 15 8 9 16.25 41184 chr22 38477275 38477275 G A rs75640043 SLC16A8 Nonsynonymous SNV A257V 0.033 0.021 0.051 10 39 8 0.026 15 0 0 1 0 17.1 41185 chr22 46712077 46712077 C T rs9615947 GTSE1 Synonymous SNV V400V 0.118 0.112 0.092 46 139 43 0.118 27 7 0 1 2 11.81 41186 chr21 45535628 45535628 C T rs139772426 LOC102724159, PWP2 Synonymous SNV P221P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.58 41187 chr22 46722531 46722531 C T rs9615949 GTSE1 Synonymous SNV P568P 0.118 0.112 0.095 46 139 43 0.118 28 7 0 1 2 10.25 41188 chr4 39448586 39448586 C T rs35372803 KLB Nonsynonymous SNV A747V 0.031 0.031 0.034 16 36 12 0.041 10 0 0 0 0 19.11 41189 chr4 39483115 39483115 A G rs2687980 LOC401127 0 0 0.745 0 0 0 0 219 0 0 86 0 3.162 41190 chr22 39714490 39714490 C T rs6509 RPL3 Synonymous SNV P37P 0.5 0.484 0.493 177 587 186 0.454 145 147 49 32 33 13.71 41191 chr4 40045025 40045025 T C rs73229741 LOC344967 0 0 0.048 0 0 0 0 14 0 0 0 0 1.223 41192 chr22 39966856 39966856 C T rs3747178 CACNA1I Synonymous SNV S33S 0.321 0.331 0.327 115 377 127 0.295 96 57 22 17 12 8.052 41193 chr21 45947382 45947382 G A rs146600721 TSPEAR Synonymous SNV Y314Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 2.473 41194 chr22 40057273 40057273 T C rs136852 CACNA1I Synonymous SNV S918S 0.559 0.573 0.524 207 656 220 0.531 154 187 54 46 55 5.534 41195 chr22 46785301 46785301 C T rs11090875 CELSR1 Synonymous SNV T2147T 0.118 0.099 0.071 37 139 38 0.095 21 8 1 0 1 11.43 41196 chr22 26231312 26231312 G C rs17704912 MYO18B Nonsynonymous SNV W1038S 0.066 0.083 0.061 32 78 32 0.082 18 2 1 0 0 21.8 41197 chr22 40075400 40075400 G A rs2294369 CACNA1I Nonsynonymous SNV G1747R 0.25 0.227 0.235 81 294 87 0.208 69 57 16 9 5 13.82 41198 chr22 46787697 46787697 A G rs6008795 CELSR1 Nonsynonymous SNV L1994P 0.177 0.185 0.116 57 208 71 0.146 34 16 6 1 3 7.371 41199 chr22 40814594 40814594 C T rs56211152 MRTFA Synonymous SNV P616P 0.203 0.234 0.184 82 238 90 0.21 54 30 8 8 7 10.61 41200 chr22 46860063 46860063 C T rs6008842 CELSR1 Nonsynonymous SNV V1242I 0.018 0.01 0.003 1 21 4 0.003 1 0 0 0 0 11.89 41201 chr22 46860088 46860088 G C rs3747251 CELSR1 Synonymous SNV A1233A 0.033 0.031 0.007 9 39 12 0.023 2 2 1 0 0 9.387 41202 chr4 41652415 41652415 C T rs141393106 LIMCH1 Synonymous SNV D391D 0.006 0.008 0.034 8 7 3 0.021 10 0 0 1 1 17.73 41203 chr22 41548008 41548008 A G rs20551 EP300 Nonsynonymous SNV I971V 0.25 0.297 0.252 102 293 114 0.262 74 42 19 9 13 Benign 3.227 41204 chr22 41551039 41551039 T A rs20552 EP300 Synonymous SNV T1035T 0.614 0.602 0.602 243 721 231 0.623 177 222 70 52 71 Benign 14.28 41205 chr22 18209718 18209718 C T rs2535688 BCL2L13 Synonymous SNV N12N 0.092 0.089 0.068 43 108 34 0.11 20 4 3 0 2 14.34 41206 chr22 41574383 41574383 A C rs1046088 EP300 Nonsynonymous SNV Q2197P 0.023 0.031 0.027 3 27 12 0.008 8 0 0 1 0 Benign/Likely benign 8.028 41207 chr22 18220831 18220831 A G rs11538 BID Synonymous SNV N80N 0.092 0.086 0.065 43 108 33 0.11 19 4 2 0 2 0.022 41208 chr22 40417571 40417571 G A rs35823589 FAM83F Nonsynonymous SNV G353S 0.064 0.065 0.078 24 75 25 0.062 23 2 1 1 0 6.53 41209 chr22 18226612 18226612 A G rs2072392 BID Synonymous SNV D60D 0.033 0.026 0.041 12 39 10 0.031 12 0 0 0 0 0.496 41210 chr22 41613188 41613188 C T rs9611519 L3MBTL2 Synonymous SNV P194P 0.25 0.305 0.252 106 294 117 0.272 74 39 19 9 13 18.58 41211 chr22 18226764 18226764 T C rs8190315 BID Nonsynonymous SNV S10G 0.026 0.021 0.034 11 30 8 0.028 10 0 0 0 0 0.002 41212 chr22 41726053 41726053 G A rs4822021 ZC3H7B Synonymous SNV Q157Q 0.318 0.344 0.289 107 373 132 0.274 85 66 22 14 15 9.914 41213 chr22 47103812 47103812 C T rs753362414 CERK Nonsynonymous SNV A215T 0.009 0 0.003 0 11 0 0 1 0 0 0 0 25.2 41214 chr22 41736090 41736090 G A rs9607793 ZC3H7B Nonsynonymous SNV D363N 0.02 0.026 0.017 2 23 10 0.005 5 0 0 1 0 23.7 41215 chr4 420389 420389 C G rs59508097 ABCA11P 0 0 0.048 0 0 0 0 14 0 0 1 0 4.592 41216 chr22 41752747 41752747 G A rs12484074 ZC3H7B Synonymous SNV T872T 0.291 0.326 0.252 96 342 125 0.246 74 60 21 11 10 15.83 41217 chr4 420688 420688 C T rs2280250 ABCA11P 0 0 0.415 0 0 0 0 122 0 0 29 0 4.122 41218 chr22 50191528 50191528 A G rs746659174 BRD1 Synonymous SNV L670L 0.003 0 0 0 4 0 0 0 0 0 0 0 4.581 41219 chr4 42400112 42400112 G T rs11733156 SHISA3 Nonsynonymous SNV W13C 0.162 0.169 0.167 63 190 65 0.162 49 10 9 5 4 24.3 41220 chr22 41783659 41783659 C T rs11546403 TEF Synonymous SNV T124T 0.282 0.32 0.255 96 331 123 0.246 75 54 21 12 11 18.06 41221 chr22 37471290 37471290 G A rs881144 TMPRSS6 Synonymous SNV Y409Y 0.12 0.128 0.112 48 141 49 0.123 33 5 2 1 2 Benign/Likely benign 7.694 41222 chr12 6560628 6560629 GT - rs11569388 CD27-AS1 0.012 0.008 0.003 12 14 3 0.031 1 1 0 0 0 41223 chr22 41542780 41542780 T G rs61756764 EP300 Nonsynonymous SNV S697R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 22.8 41224 chr4 42457348 42457348 T C rs74414963 ATP8A1 Nonsynonymous SNV K913R 0.036 0.055 0.01 10 42 21 0.026 3 1 0 0 0 21.1 41225 chr22 18310439 18310439 G A rs61744286 MICAL3 Nonsynonymous SNV A1055V 0.048 0.049 0.041 14 56 19 0.036 12 0 0 0 0 8.425 41226 chr22 41903813 41903813 A C rs137831 ACO2 Synonymous SNV T64T 0.282 0.313 0.262 94 331 120 0.241 77 49 18 14 13 Benign 0.002 41227 chr4 4304522 4304522 A C rs2920217 ZBTB49 Nonsynonymous SNV Y320S 0.213 0.208 0.204 75 250 80 0.192 60 31 9 6 4 0.002 41228 chr22 37578388 37578388 C T rs17812681 C1QTNF6 Nonsynonymous SNV R226H 0.015 0.021 0.017 2 18 8 0.005 5 0 0 0 0 34 41229 chr22 50297888 50297888 T C rs3922872 ALG12 Nonsynonymous SNV I393V 0.101 0.091 0.102 42 118 35 0.108 30 3 2 3 2 Benign 23.4 41230 chr22 41613303 41613303 C T rs9611520 LOC100506544 0.158 0.206 0.238 71 185 79 0.182 70 39 18 9 13 8.052 41231 chr21 34721782 34721782 C T rs17875834 IFNAR1 Nonsynonymous SNV T359M 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 8.966 41232 chr22 42274034 42274034 G T rs9623465 SREBF2 Synonymous SNV L556L 0.088 0.049 0.065 27 103 19 0.069 19 4 0 0 3 11.97 41233 chr22 50301476 50301476 T C rs8135963 ALG12 Synonymous SNV A295A 0.222 0.177 0.238 97 261 68 0.249 70 20 5 8 12 Benign 0.013 41234 chr22 37578652 37578652 G A rs17812699 C1QTNF6 Nonsynonymous SNV P138L 0.051 0.063 0.075 20 60 24 0.051 22 2 1 0 0 23.7 41235 chr4 467896 467896 G C rs73072110 ABCA11P 0.061 0.063 0.051 24 72 24 0.062 15 2 0 1 1 1.772 41236 chr4 467940 467940 G A rs78633268 ABCA11P 0.06 0.057 0.048 24 70 22 0.062 14 2 0 1 1 2.781 41237 chr22 50313438 50313438 T C rs9616388 CRELD2 Synonymous SNV N91N 0.191 0.161 0.211 79 224 62 0.203 62 16 5 5 10 0.445 41238 chr22 50315937 50315973 CTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG - rs758608747 CRELD2 V198Afs*42 0.089 0.094 0.092 40 104 36 0.103 27 4 2 2 2 41239 chr22 19121872 19121872 G A rs712965 ESS2 Nonsynonymous SNV A423V 0.077 0.083 0.071 29 90 32 0.074 21 4 1 3 1 21 41240 chr22 50319079 50319079 T G rs11545762 CRELD2 Nonsynonymous SNV S267A 0.088 0.096 0.092 40 103 37 0.103 27 4 2 2 2 6.835 41241 chr22 50319170 50319170 A G rs11545763 CRELD2 Nonsynonymous SNV E297G 0.089 0.096 0.092 40 104 37 0.103 27 4 2 2 2 24.5 41242 chr4 47578971 47578971 G A rs16851681 ATP10D Nonsynonymous SNV R1183K 0.244 0.203 0.238 96 286 78 0.246 70 37 5 11 11 0.007 41243 chr22 42607572 42607572 G A TCF20 Nonsynonymous SNV S1247F 0.003 0 0 0 4 0 0 0 0 0 0 0 23 41244 chr21 46924383 46924383 C T rs11544970 COL18A1 Synonymous SNV P1107P 0.026 0.042 0.024 18 31 16 0.046 7 1 0 1 0 Benign/Likely benign 9.761 41245 chr22 43032742 43032742 C T rs5996200 CYB5R3 Synonymous SNV P44P 0.211 0.237 0.221 88 248 91 0.226 65 31 13 4 10 Benign 16.81 41246 chr21 46924389 46924389 C T rs11544971 COL18A1 Synonymous SNV G1109G 0.009 0.023 0.014 7 11 9 0.018 4 0 0 1 0 Benign 11.15 41247 chr22 43036245 43036245 G A rs6519327 ATP5MGL Synonymous SNV T12T 0.085 0.055 0.085 39 100 21 0.1 25 6 1 0 2 1.996 41248 chr22 37770630 37770630 G A rs2071856 ELFN2 Synonymous SNV I315I 0.338 0.336 0.337 134 397 129 0.344 99 54 20 20 16 5.49 41249 chr21 46931109 46931109 G A rs12483377 COL18A1 Nonsynonymous SNV D1437N 0.061 0.07 0.075 24 72 27 0.062 22 1 2 2 0 Benign/Likely benign 27.7 41250 chr22 50439194 50439194 C T rs9617090 IL17REL Nonsynonymous SNV G127R 0.323 0.32 0.33 138 379 123 0.354 97 64 17 20 24 1.004 41251 chr12 6777070 6777075 TGCTGC - rs763377921 ZNF384 Q399_Q400del 0.042 0.021 0 24 49 8 0.062 0 0 0 0 0 41252 chr12 6777073 6777075 TGC - ZNF384 Q400del 0.08 0.068 0 40 94 26 0.103 0 0 0 0 0 41253 chr22 50468907 50468907 C G rs738333 TTLL8 Nonsynonymous SNV G735R 0.285 0.302 0.092 104 335 116 0.267 27 50 25 10 12 0.018 41254 chr22 38035851 38035851 A G rs13055139 SH3BP1 Synonymous SNV G19G 0.077 0.073 0.065 31 90 28 0.079 19 4 1 1 1 18.21 41255 chr22 38051336 38051336 G A rs199695574 SH3BP1 Nonsynonymous SNV R584H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 23.7 41256 chr22 19789541 19789541 A C rs2073770 GNB1L Nonsynonymous SNV W239G 0.127 0.138 0.146 50 149 53 0.128 43 15 3 6 4 11.03 41257 chr22 50555686 50555686 A C rs760749 MOV10L1 Nonsynonymous SNV I454L 0.168 0.19 0.214 67 197 73 0.172 63 15 6 8 6 2.274 41258 chr21 35821816 35821816 G A rs368465967 KCNE1, KCNE1B Synonymous SNV D39D 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 1.711 41259 chr22 50588131 50588131 C T rs138271 MOV10L1 Synonymous SNV D32D 0.236 0.253 0.214 122 277 97 0.313 63 29 11 5 19 6.61 41260 chr22 50589196 50589196 C A rs2294396 MOV10L1 Synonymous SNV G47G 0.157 0.188 0.214 67 184 72 0.172 63 14 6 10 6 16.16 41261 chr4 4861745 4861745 C G rs36059701 MSX1 Nonsynonymous SNV A40G 0.13 0.12 0.102 49 153 46 0.126 30 10 2 3 4 Benign 0.346 41262 chr22 43579083 43579083 G A rs138951 TTLL12 Nonsynonymous SNV R84W 0.077 0.052 0.071 24 90 20 0.062 21 4 0 1 1 22.8 41263 chr22 50656428 50656428 G A rs35381394 TUBGCP6 Nonsynonymous SNV R1763W 0.129 0.125 0.075 59 152 48 0.151 22 12 5 1 5 Benign 29 41264 chr22 43607040 43607040 G A rs138988 SCUBE1 Synonymous SNV I757I 0.089 0.06 0.071 29 105 23 0.074 21 5 1 1 1 10.44 41265 chr21 37445039 37445039 G A rs2230192 CBR1 Synonymous SNV V231V 0.025 0.021 0.044 14 29 8 0.036 13 1 0 0 0 10.94 41266 chr22 19951804 19951804 G A rs769224 COMT Synonymous SNV P149P 0.037 0.052 0.02 12 44 20 0.031 6 0 1 0 0 drug response 5.372 41267 chr21 47558552 47558552 G A rs61735841 FTCD Nonsynonymous SNV A438V 0.081 0.065 0.082 37 95 25 0.095 24 5 1 0 1 Benign/Likely benign 12.79 41268 chr22 43930825 43930825 C T rs4585129 EFCAB6-AS1 0.101 0.107 0.088 46 118 41 0.118 26 12 4 5 6 3.72 41269 chr22 19951816 19951816 C T rs165631 COMT Synonymous SNV L153L 0.036 0.023 0.024 20 42 9 0.051 7 1 0 0 0 9.433 41270 chr22 50658698 50658698 T A rs5771107 TUBGCP6 Nonsynonymous SNV S1364C 0.188 0.214 0.272 80 221 82 0.205 80 26 13 8 8 17.48 41271 chr22 43936219 43936219 C T rs61995890 EFCAB6 Nonsynonymous SNV E1071K 0.166 0.182 0.133 59 195 70 0.151 39 12 4 5 6 23 41272 chr21 37602984 37602984 C T rs114471759 DOP1B Synonymous SNV I634I 0.012 0.013 0.003 10 14 5 0.026 1 0 0 0 0 Benign 14.33 41273 chr22 44079645 44079645 T C rs8141450 EFCAB6 Synonymous SNV A259A 0.145 0.146 0.116 47 170 56 0.121 34 7 3 4 2 6.28 41274 chr22 43950853 43950853 T G rs34955597 EFCAB6 Nonsynonymous SNV T1030P 0.052 0.049 0.065 12 61 19 0.031 19 0 1 0 1 10.81 41275 chr21 37618850 37618850 G T rs147991550 DOP1B Synonymous SNV T1524T 0.013 0.016 0.003 10 15 6 0.026 1 0 0 0 0 Benign 5.592 41276 chr21 37741352 37741352 G A rs61739936 MORC3 Synonymous SNV Q491Q 0.092 0.081 0.105 39 108 31 0.1 31 3 2 4 1 2.599 41277 chr22 30888494 30888494 C T rs17738527 SEC14L4 Nonsynonymous SNV E211K 0.225 0.201 0.163 84 264 77 0.215 48 33 9 3 11 26 41278 chr4 54011576 54011576 T C rs79628372 SCFD2 Synonymous SNV E495E 0.096 0.073 0.099 42 113 28 0.108 29 6 2 2 4 0.018 41279 chr22 30888527 30888527 C T rs17738540 SEC14L4 Nonsynonymous SNV V200M 0.225 0.201 0.163 84 264 77 0.215 48 33 9 3 11 27.6 41280 chr21 38308911 38308911 G A rs1065758 HLCS Synonymous SNV S425S 0.169 0.172 0.126 72 198 66 0.185 37 16 8 4 6 Benign 4.712 41281 chr21 47685242 47685242 G T rs142223686 MCM3AP Nonsynonymous SNV S1076Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26.5 41282 chr22 44282276 44282276 A G rs739231 PNPLA5 Nonsynonymous SNV W172R 0.404 0.419 0.378 175 474 161 0.449 111 88 25 15 38 0.004 41283 chr22 30891250 30891250 T C rs9606738 SEC14L4 Synonymous SNV Q138Q 0.232 0.206 0.17 86 272 79 0.221 50 34 10 4 11 0.009 41284 chr21 38494273 38494273 C G rs61999340 TTC3 Nonsynonymous SNV L43V 0.059 0.068 0.058 19 69 26 0.049 17 0 2 1 1 22.3 41285 chr22 44360335 44360335 G A rs143095808 SAMM50 Nonsynonymous SNV V46I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.68 41286 chr22 30891294 30891294 G C rs9606739 SEC14L4 Nonsynonymous SNV R124G 0.226 0.201 0.163 84 265 77 0.215 48 33 9 3 11 25.4 41287 chr22 44282307 44282307 G A rs739232 PNPLA5 Synonymous SNV D161D 0.404 0.419 0.378 175 474 161 0.449 111 88 25 15 38 3.884 41288 chr22 20082293 20082293 A G rs35569747 DGCR8 Nonsynonymous SNV K555R 0.035 0.018 0.01 14 41 7 0.036 3 0 0 0 0 25.3 41289 chr21 47703746 47703746 A G rs145552585 MCM3AP Nonsynonymous SNV L409P 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 22.9 41290 chr22 44285765 44285765 A G rs2017461 PNPLA5 Nonsynonymous SNV L10P 0.48 0.503 0.452 198 564 193 0.508 133 132 41 29 46 2.356 41291 chr22 30901592 30901592 T C rs9608956 SEC14L4 Nonsynonymous SNV S3G 0.233 0.208 0.16 89 274 80 0.228 47 49 13 6 13 12.18 41292 chr22 44368122 44368122 A G rs3761472 SAMM50 Nonsynonymous SNV D110G 0.208 0.195 0.214 68 244 75 0.174 63 30 8 7 5 22.8 41293 chr22 44287062 44287062 A G rs2071884 PNPLA5 Synonymous SNV D102D 0.359 0.383 0.344 156 421 147 0.4 101 78 26 19 25 2.31 41294 chr22 44322970 44322970 G T rs2076212 PNPLA3 Nonsynonymous SNV G115C 0.135 0.128 0.109 58 159 49 0.149 32 9 1 3 3 Benign 0.75 41295 chr22 50724504 50724504 C T rs144108995 PLXNB2 Nonsynonymous SNV R634H 0.011 0.01 0.014 5 13 4 0.013 4 0 0 0 0 23.1 41296 chr22 38382304 38382304 G A rs12170378 POLR2F Nonsynonymous SNV G146D 0.015 0.013 0.02 0 18 5 0 6 1 0 0 0 22.3 41297 chr4 55599268 55599268 C T rs55789615 KIT Synonymous SNV I798I 0.022 0.018 0.037 8 26 7 0.021 11 0 0 0 0 Benign/Likely benign 17.6 41298 chr22 44372632 44372632 C T rs14315 SAMM50 Synonymous SNV H260H 0.301 0.302 0.357 103 353 116 0.264 105 53 17 22 13 13.14 41299 chr4 56475338 56475338 G A rs3805383 NMU Synonymous SNV N60N 0.193 0.206 0.201 82 227 79 0.21 59 18 8 4 8 1.778 41300 chr22 30934886 30934886 G A rs9608973 SEC14L6 Nonsynonymous SNV R20W 0.014 0.003 0.014 5 16 1 0.013 4 1 0 0 0 22.9 41301 chr12 8202092 8202092 C T rs140454174 FOXJ2 Nonsynonymous SNV R488C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.6 41302 chr22 20784050 20784050 T A rs2241230 SCARF2 Nonsynonymous SNV T425S 0.081 0.078 0.105 27 95 30 0.069 31 3 2 3 1 12.08 41303 chr22 50845178 50845178 C T rs200665748 PPP6R2 Synonymous SNV L96L 0.004 0 0 0 5 0 0 0 0 0 0 0 8.249 41304 chr22 50885775 50885775 A G rs1053744 SBF1 Synonymous SNV T1828T 0.56 0.557 0.578 210 658 214 0.538 170 185 58 52 56 Benign 0.178 41305 chr22 45132704 45132704 T C rs6006864 PRR5 Synonymous SNV P153P 0.046 0.063 0.051 24 54 24 0.062 15 1 0 0 1 1.214 41306 chr22 20800835 20800835 A G rs8748 KLHL22 Synonymous SNV D478D 0.074 0.073 0.102 23 87 28 0.059 30 3 0 3 1 7.855 41307 chr22 50895020 50895020 C T rs5771001 SBF1 Synonymous SNV A1304A 0.213 0.255 0.231 95 250 98 0.244 68 27 10 7 12 Benign 14.07 41308 chr22 20940085 20940085 G A rs2285699 MED15 Synonymous SNV P623P 0.066 0.065 0.099 21 78 25 0.054 29 0 0 3 1 9.313 41309 chr22 45132785 45132785 T C rs6006865 PRR5 Synonymous SNV G180G 0.047 0.063 0.051 24 55 24 0.062 15 1 0 0 1 0.148 41310 chr22 50899974 50899974 C T rs377404933 SBF1 Synonymous SNV T940T 0.004 0 0 0 5 0 0 0 0 0 0 0 17.54 41311 chr22 50921149 50921166 ACACTCGGGCCCCCGAAG - rs3840963 ADM2 H95_R100del 0.125 0.154 0.088 51 147 59 0.131 26 11 7 2 4 41312 chr22 31019044 31019044 G A rs4820889 TCN2 Nonsynonymous SNV R399Q 0.031 0.013 0.037 9 36 5 0.023 11 1 0 0 0 Benign 16.16 41313 chr12 56718381 56718381 C T rs117027379 PAN2 Nonsynonymous SNV R571H 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 34 41314 chr22 45198009 45198009 A G rs2239813 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV P44P 0.516 0.521 0.51 195 606 200 0.5 150 156 53 38 46 7.841 41315 chr21 47808772 47808772 G A rs35044802 PCNT Nonsynonymous SNV A1076T 0.059 0.07 0.078 14 69 27 0.036 23 1 1 0 1 Benign 9.067 41316 chr22 31283324 31283324 T C rs4820912 LOC107985544 0.016 0.013 0 2 19 5 0.005 0 0 0 0 0 0.058 41317 chr4 57397050 57397050 A C rs28550555 THEGL Synonymous SNV R70R 0.215 0.237 0.211 76 252 91 0.195 62 23 14 8 6 0.094 41318 chr4 57397082 57397082 T C rs28470886 THEGL Synonymous SNV H80H 0.216 0.237 0.211 76 253 91 0.195 62 23 14 8 6 0.215 41319 chr22 45283897 45283897 C T rs6006901 PHF21B Synonymous SNV P327P 0.117 0.128 0.071 55 137 49 0.141 21 5 3 1 3 18.71 41320 chr22 31289477 31289477 G C rs35988107 OSBP2 Nonsynonymous SNV S217T 0.016 0.01 0.007 2 19 4 0.005 2 0 0 0 0 Benign 24 41321 chr4 57397196 57397196 C G rs28565512 THEGL Synonymous SNV P118P 0.118 0.115 0.119 44 139 44 0.113 35 12 2 2 1 8.355 41322 chr22 45312244 45312244 G A rs6519902 PHF21B Synonymous SNV A148A 0.124 0.128 0.122 58 145 49 0.149 36 8 3 1 3 10.76 41323 chr4 5749904 5749904 T C rs4688963 EVC Synonymous SNV N323N 0.318 0.32 0.388 155 373 123 0.397 114 55 24 23 30 Benign 13.91 41324 chr22 31289891 31289891 A G rs34240867 OSBP2 Nonsynonymous SNV M304V 0.016 0.01 0.007 2 19 4 0.005 2 0 0 0 0 0.008 41325 chr22 50964554 50964554 G A rs770533125 TYMP Synonymous SNV V392V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.27 41326 chr22 50967740 50967740 C T rs143789597 TYMP Nonsynonymous SNV R81Q 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.409 41327 chr12 57037209 57037209 T C rs142007312 ATP5F1B Nonsynonymous SNV N257S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.2 41328 chr22 31328929 31328929 C G rs41279971 MORC2 Synonymous SNV R823R 0.016 0.01 0.007 2 19 4 0.005 2 0 0 0 0 Benign 12.73 41329 chr4 57797230 57797230 C T rs61754065 REST Nonsynonymous SNV P736S 0.006 0 0.003 4 7 0 0.01 1 0 0 0 0 Benign 1.425 41330 chr22 50986647 50986647 G A rs62239508 KLHDC7B Nonsynonymous SNV V659I 0.047 0.042 0.044 27 55 16 0.069 13 1 1 0 1 1.055 41331 chr4 57797414 57797414 C T rs3796529 REST Nonsynonymous SNV P797L 0.147 0.154 0.156 59 172 59 0.151 46 11 5 2 6 5.794 41332 chr21 47852085 47852085 G A rs35147998 PCNT Nonsynonymous SNV A2903T 0.114 0.115 0.102 46 134 44 0.118 30 9 3 0 2 Benign/Likely benign 16.89 41333 chr22 50987287 50987287 A G rs5770886 KLHDC7B Nonsynonymous SNV Q872R 0.166 0.138 0.177 72 195 53 0.185 52 31 8 1 10 12.56 41334 chr4 57798189 57798189 G A rs2227901 REST Synonymous SNV A1055A 0.147 0.156 0.156 60 173 60 0.154 46 11 5 2 6 3.104 41335 chr21 47969793 47969793 C T rs17302700 DIP2A Synonymous SNV L874L 0.11 0.109 0.105 47 129 42 0.121 31 8 3 1 2 14.62 41336 chr22 51011376 51011376 G C rs8142477 CPT1B Nonsynonymous SNV S393C 0.117 0.109 0.122 65 137 42 0.167 36 13 2 2 8 0.009 41337 chr22 51017514 51017514 C G rs17001634 CHKB-CPT1B 0.035 0.029 0.044 15 41 11 0.038 13 1 1 0 0 Benign 13.43 41338 chr4 5795412 5795412 C T rs11737221 EVC Synonymous SNV G618G 0.33 0.349 0.33 118 387 134 0.303 97 60 20 20 18 Benign 12.2 41339 chr4 5966801 5966801 T C rs6839295 C4orf50 Nonsynonymous SNV I1230V 0.28 0.297 0.296 116 329 114 0.297 87 50 13 9 16 0.001 41340 chr22 45767421 45767421 C T rs56174639 SMC1B Nonsynonymous SNV C748Y 0.158 0.154 0.027 82 186 59 0.21 8 19 5 4 10 6.786 41341 chr22 40742686 40742686 C T rs2228415 ADSL Synonymous SNV L42L 0.016 0.018 0 0 19 7 0 0 0 0 0 0 Benign 14.58 41342 chr22 45767455 45767455 A G rs136569 SMC1B Synonymous SNV L737L 0.537 0.521 0.058 219 631 200 0.562 17 168 56 8 58 9.454 41343 chr22 45749966 45749966 G C rs61735519 SMC1B Nonsynonymous SNV F1055L 0.072 0.065 0.054 29 84 25 0.074 16 7 3 0 1 25.9 41344 chr2 100058870 100058870 C T rs3087403 REV1 Nonsynonymous SNV V138M 0.341 0.307 0.306 134 400 118 0.344 90 62 21 13 19 14.87 41345 chr12 57398294 57398294 G A rs748894 ZBTB39 Synonymous SNV S136S 0.053 0.047 0.041 22 62 18 0.056 12 4 0 0 0 0.067 41346 chr4 5990869 5990870 CT - rs143859826 C4orf50 E789Gfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 41347 chr4 5991429 5991429 C T rs16838009 C4orf50 Nonsynonymous SNV E603K 0.055 0.06 0.044 30 65 23 0.077 13 3 0 1 1 10.6 41348 chr22 32766927 32766927 A G rs12168441 RFPL3S 0.101 0.13 0.102 40 119 50 0.103 30 6 3 4 3 1.901 41349 chr22 18022052 18022052 G C rs41277562 CECR2 Synonymous SNV G577G 0.007 0.013 0.017 6 8 5 0.015 5 0 0 0 0 0.002 41350 chr22 41631323 41631323 C A rs201020621 CHADL Synonymous SNV R696R 0.008 0.01 0 0 9 4 0 0 0 0 0 0 13.87 41351 chr22 41650338 41650338 G A rs139571477 RANGAP1 Nonsynonymous SNV R412W 0.012 0.013 0 1 14 5 0.003 0 0 0 0 0 25.5 41352 chr4 62897314 62897314 G A ADGRL3 Nonsynonymous SNV V1098I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 41353 chr22 46654159 46654159 T C rs147904316 PKDREJ Synonymous SNV Q1687Q 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 0.034 41354 chr22 35661087 35661087 C T rs146646334 HMGXB4 Nonsynonymous SNV L127F 0.011 0.003 0 5 13 1 0.013 0 0 0 0 0 12.85 41355 chr2 100915337 100915337 G A rs148009215 LONRF2 Synonymous SNV H479H 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 7.277 41356 chr22 35802592 35802592 C T rs140804920 MCM5 Nonsynonymous SNV A157V 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 25.3 41357 chr4 6303179 6303179 G A rs150840308 WFS1 Nonsynonymous SNV G553S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.99 41358 chr21 43319180 43319180 T C rs9981024 C2CD2 Nonsynonymous SNV T463A 0.015 0.029 0.02 8 18 11 0.021 6 0 0 0 0 0.001 41359 chr21 43319214 43319214 C T rs9985096 C2CD2 Synonymous SNV L451L 0.019 0.031 0.024 9 22 12 0.023 7 0 0 0 0 12.05 41360 chr22 46932032 46932032 T A rs142090496 CELSR1 Nonsynonymous SNV T346S 0.008 0 0 0 9 0 0 0 1 0 0 0 16.27 41361 chr21 43319424 43319424 C T rs9974123 C2CD2 Synonymous SNV T381T 0.02 0.031 0.01 8 23 12 0.021 3 1 0 0 0 9.083 41362 chr22 42154410 42154410 C A rs375234035 MEI1 Nonsynonymous SNV Q665K 0.009 0.013 0 1 11 5 0.003 0 0 0 0 0 18.54 41363 chr22 42276742 42276742 G C rs2228314 SREBF2 Nonsynonymous SNV G595A 0.285 0.284 0.282 135 335 109 0.346 83 38 19 12 25 7.244 41364 chr22 24036563 24036563 G A rs2070447 RGL4 Synonymous SNV S314S 0.049 0.044 0.054 16 57 17 0.041 16 1 1 1 0 6.93 41365 chr22 24036657 24036657 T C rs2070448 GUSBP11 0.048 0.044 0.054 17 56 17 0.044 16 1 1 1 0 0.019 41366 chr22 42341308 42341308 A G rs7293091 CENPM Nonsynonymous SNV S72P 0.218 0.229 0.207 94 256 88 0.241 61 25 13 6 10 11.42 41367 chr4 66189835 66189835 C T rs55784741 EPHA5 Synonymous SNV L1016L 0.009 0.005 0.01 1 11 2 0.003 3 0 0 0 0 8.057 41368 chr2 101638759 101638759 C T rs150560158 TBC1D8 Synonymous SNV A900A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 12 41369 chr22 24087319 24087319 A C rs2070451 ZNF70 Synonymous SNV V3V 0.06 0.063 0.054 17 70 24 0.044 16 1 2 1 0 0.022 41370 chr22 24106448 24106448 G A rs2298375 C22orf15 Synonymous SNV A38A 0.09 0.083 0.092 29 106 32 0.074 27 4 1 3 1 3.147 41371 chr22 36700066 36700066 A G MYH9 Nonsynonymous SNV C789R 0.009 0 0 4 10 0 0.01 0 0 0 0 0 19.28 41372 chr22 50307359 50307359 C T rs138266806 ALG12 Nonsynonymous SNV A19T 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.64 41373 chr22 36700175 36700175 A G rs9619601 MYH9 Synonymous SNV N752N 0.039 0.021 0.024 15 46 8 0.038 7 0 1 0 0 Benign 4.211 41374 chr22 42606111 42606111 G A rs767396058 TCF20 Nonsynonymous SNV P1734L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 41375 chr4 67142620 67142620 G A rs73239138 MIR1269A 0 0 0.272 0 0 0 0 80 0 0 11 0 1.889 41376 chr12 10373237 10373237 T A rs561133615 GABARAPL1 Nonsynonymous SNV I123K 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 9.003 41377 chr22 42609148 42609148 T C rs5758651 TCF20 Nonsynonymous SNV S722G 0.14 0.143 0.15 53 164 55 0.136 44 13 3 5 3 0.049 41378 chr22 37326443 37326443 G C rs16845 CSF2RB Nonsynonymous SNV E249Q 0.072 0.076 0.061 20 85 29 0.051 18 4 0 0 0 Benign 11.06 41379 chr2 10188514 10188514 G T rs145193520 KLF11 Synonymous SNV P333P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.611 41380 chr4 68586315 68586315 G A rs13124793 UBA6-AS1 0 0 0.255 0 0 0 0 75 0 0 11 0 12.03 41381 chr4 68586335 68586335 T C rs72643632 UBA6-AS1 0 0 0.248 0 0 0 0 73 0 0 11 0 3.264 41382 chr22 50528569 50528569 A T rs12628964 MOV10L1 Nonsynonymous SNV T18S 0.092 0.07 0.061 37 108 27 0.095 18 24 2 4 4 0.001 41383 chr4 68586336 68586336 A G rs17635292 UBA6-AS1 0 0 0.241 0 0 0 0 71 0 0 11 0 3.93 41384 chr22 37333804 37333804 G A rs1801114 CSF2RB Nonsynonymous SNV V652M 0.03 0.026 0.024 5 35 10 0.013 7 1 0 0 0 Benign 0.048 41385 chr2 102018908 102018908 A G rs2175968 RFX8 Nonsynonymous SNV M241T 0.544 0.547 0.537 209 639 210 0.536 158 178 61 45 57 10.02 41386 chr4 68928740 68928740 G A rs1837215 LOC550113, SYT14P1 0 0 0.697 0 0 0 0 205 0 0 69 0 0.193 41387 chr22 37387257 37387257 T C rs9610624 TEX33 Nonsynonymous SNV Y269C 0.106 0.107 0.105 39 124 41 0.1 31 13 4 2 2 22.8 41388 chr4 69056974 69056974 T G rs114552880 TMPRSS11BNL 0 0 0.065 0 0 0 0 19 0 0 0 0 15.74 41389 chr12 63083521 63083521 G A rs11174604 PPM1H Synonymous SNV D401D 0.084 0.065 0.085 19 99 25 0.049 25 3 1 1 0 9.216 41390 chr4 69078113 69078113 T C rs4463136 FTLP10, TMPRSS11BNL 0 0 0.711 0 0 0 0 209 0 0 72 0 6.908 41391 chr12 64377804 64377804 C T rs142409169 SRGAP1 Synonymous SNV L49L 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Likely benign 12.29 41392 chr2 102038936 102038936 T G rs7589943 RFX8 0.014 0.013 0.017 2 16 5 0.005 5 0 0 0 0 24 41393 chr22 46761565 46761565 G C rs34184256 CELSR1 Synonymous SNV L2774L 0.026 0.021 0.017 7 31 8 0.018 5 0 0 0 0 4.714 41394 chr22 46762360 46762360 G A rs56325154 CELSR1 Synonymous SNV N2741N 0.031 0.016 0.024 9 36 6 0.023 7 0 0 0 0 0.524 41395 chr22 43459864 43459864 G A rs2272870 TTLL1 Synonymous SNV D234D 0.076 0.068 0.065 20 89 26 0.051 19 2 1 2 0 8.766 41396 chr21 43803308 43803308 - TA rs34966432 TMPRSS3 0.056 0.06 0.075 23 66 23 0.059 22 1 0 1 0 41397 chr2 102805582 102805582 C A rs746520610 IL1RL2 Nonsynonymous SNV S35R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 18.13 41398 chr22 24982005 24982005 C T rs199729018 LRRC75B Nonsynonymous SNV R266Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 41399 chr22 43465814 43465814 A G rs2076155 TTLL1 Synonymous SNV V50V 0.066 0.06 0.071 19 78 23 0.049 21 1 1 2 0 5.864 41400 chr2 103001402 103001402 C T rs1035130 IL18R1 Synonymous SNV F2F 0.229 0.227 0.224 61 269 87 0.156 66 26 14 9 4 11.06 41401 chr22 24988920 24988920 C T rs737128 LRRC75B Synonymous SNV E29E 0.072 0.044 0.017 39 84 17 0.1 5 30 7 1 14 14.17 41402 chr12 64668747 64668747 G A rs113778554 C12orf56 Synonymous SNV L346L 0.017 0.023 0.02 5 20 9 0.013 6 0 0 0 0 10.1 41403 chr22 37499386 37499386 C T rs11704654 TMPRSS6 Synonymous SNV P24P 0.175 0.159 0.153 71 205 61 0.182 45 16 5 1 6 Benign 11.86 41404 chr12 64849716 64849716 T C rs41292019 TBK1 Synonymous SNV N22N 0.033 0.036 0.017 19 39 14 0.049 5 0 0 0 0 Benign 2.028 41405 chr4 70360912 70360912 C A rs185495830 UGT2B4 Nonsynonymous SNV W223L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Likely benign 6.909 41406 chr22 37499565 37499565 G A rs115270691 TMPRSS6 Synonymous SNV F5F 0.032 0.036 0.044 13 38 14 0.033 13 0 0 1 0 Benign 3.028 41407 chr22 46805007 46805007 G A rs35717986 CELSR1 Synonymous SNV D1704D 0.072 0.055 0.041 23 84 21 0.059 12 2 1 0 1 9.551 41408 chr4 7044600 7044600 G A rs2359010 CCDC96 Synonymous SNV A22A 0.108 0.109 0.139 51 127 42 0.131 41 7 4 2 6 10.53 41409 chr4 70460328 70460328 C T rs4148304 UGT2A1, UGT2A2 Nonsynonymous SNV V356I 0.101 0.104 0.088 30 119 40 0.077 26 6 4 4 1 0.165 41410 chr22 21119973 21119973 T G rs202141963 PI4KA Synonymous SNV R757R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.01 41411 chr2 106690493 106690493 C T rs41280609 ECRG4 Synonymous SNV D93D 0.012 0.016 0.027 12 14 6 0.031 8 0 0 0 0 16.21 41412 chr22 44151656 44151656 A G rs16990981 EFCAB6 Nonsynonymous SNV V14A 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 12.35 41413 chr22 37962583 37962583 G A rs61739954 CDC42EP1 Nonsynonymous SNV R76H 0.014 0.013 0.014 3 16 5 0.008 4 0 0 0 0 31 41414 chr4 71201648 71201648 T G rs2291182 CABS1 Nonsynonymous SNV W298G 0.149 0.13 0.133 47 175 50 0.121 39 14 3 3 2 24.5 41415 chr22 50696725 50696725 G A rs143795417 MAPK12 Synonymous SNV I87I 0.004 0 0 0 5 0 0 0 0 0 0 0 10.3 41416 chr22 38051659 38051659 C T rs755787123 SH3BP1 Nonsynonymous SNV R692C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 41417 chr22 50279201 50279201 C T rs756693965 ZBED4 Nonsynonymous SNV R631W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 41418 chr4 71275387 71275387 A G rs61336549 OPRPN Synonymous SNV V114V 0.12 0.109 0.119 45 141 42 0.115 35 10 3 2 1 0.666 41419 chr22 50280655 50280655 C T rs6009916 ZBED4 Synonymous SNV S1115S 0.018 0.016 0 15 21 6 0.038 0 0 0 0 0 4.803 41420 chr4 71388551 71388551 A G rs7660807 AMTN Nonsynonymous SNV N44S 0.118 0.109 0.109 51 139 42 0.131 32 11 4 1 1 11.53 41421 chr22 50723068 50723068 G C rs200637738 PLXNB2 Nonsynonymous SNV D705E 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 0.069 41422 chr22 50315363 50315363 C A rs8139422 CRELD2 Nonsynonymous SNV D182E 0.057 0.023 0.068 21 67 9 0.054 20 1 0 1 0 7.834 41423 chr22 26423329 26423329 T C rs185466872 MYO18B Synonymous SNV G2464G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.049 41424 chr22 38165152 38165152 C T rs751291030 TRIOBP Synonymous SNV R518R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 41425 chr22 50728062 50728062 T C rs28379706 PLXNB2 Nonsynonymous SNV K318E 0.319 0.333 0.35 138 375 128 0.354 103 58 18 16 18 0.001 41426 chr22 26688831 26688831 G T rs137203 SEZ6L Nonsynonymous SNV W185L 0.014 0.013 0.044 5 17 5 0.013 13 0 0 0 0 14.53 41427 chr22 50315952 50315952 C T rs7410276 CRELD2 Synonymous SNV T200T 0.109 0.078 0.102 55 128 30 0.141 30 9 1 0 6 9.181 41428 chr2 10929938 10929938 G A rs138712410 PDIA6 Synonymous SNV S259S 0.017 0.026 0.007 10 20 10 0.026 2 0 0 0 0 13.08 41429 chr22 50315973 50315973 G C rs12160965 CRELD2 Synonymous SNV P207P 0.018 0.016 0.01 14 21 6 0.036 3 0 0 0 0 3.788 41430 chr4 73178175 73178175 T C rs150270324 ADAMTS3 Nonsynonymous SNV N585S 0.025 0.031 0.017 13 29 12 0.033 5 0 0 0 0 Benign 23.6 41431 chr2 109408208 109408208 G A rs6740879 CCDC138 Nonsynonymous SNV R110K 0.261 0.255 0.184 112 306 98 0.287 54 42 16 12 14 11.33 41432 chr4 73930552 73930552 G A rs3762883 COX18 Synonymous SNV P224P 0.358 0.385 0.469 143 420 148 0.367 138 67 28 32 23 6.991 41433 chr22 50927484 50927484 G A rs200602157 MIOX Nonsynonymous SNV D142N 0.004 0 0 0 5 0 0 0 0 0 0 0 29.9 41434 chr4 73956736 73956736 G A rs6855349 ANKRD17 Synonymous SNV L1952L 0.347 0.385 0.463 138 407 148 0.354 136 63 28 30 22 3.572 41435 chr22 38485540 38485540 A G rs17856487 BAIAP2L2 Nonsynonymous SNV C252R 0.068 0.107 0.153 23 80 41 0.059 45 35 18 17 10 11.23 41436 chr12 70949085 70949085 G A rs75994780 PTPRB Synonymous SNV P1358P 0.017 0.031 0.037 8 20 12 0.021 11 0 1 0 0 11.7 41437 chr22 50468907 50468907 C T rs738333 TTLL8 Nonsynonymous SNV G735S 0.391 0.372 0.207 154 459 143 0.395 61 93 32 23 32 0.002 41438 chr22 38822905 38822905 C T rs105153 KCNJ4 Synonymous SNV A411A 0.045 0.047 0.027 18 53 18 0.046 8 1 0 0 1 14.91 41439 chr4 74318177 74318177 T C rs35920062 AFP Synonymous SNV G496G 0.11 0.081 0.068 47 129 31 0.121 20 10 1 0 5 7.436 41440 chr4 7435058 7435058 C T rs60816800 PSAPL1 Nonsynonymous SNV A517T 0.233 0.25 0.214 90 274 96 0.231 63 31 11 5 9 4.064 41441 chr22 45204976 45204976 C T rs559051849 ARHGAP8 Synonymous SNV Y130Y 0.013 0.008 0.01 2 15 3 0.005 3 0 0 0 0 0.769 41442 chr22 38823895 38823895 G A rs105154 KCNJ4 Synonymous SNV A81A 0.046 0.047 0.034 18 54 18 0.046 10 1 0 0 1 6.7 41443 chr4 7435486 7435486 G T rs61738677 PSAPL1 Nonsynonymous SNV A374E 0.186 0.195 0.146 78 218 75 0.2 43 18 6 4 7 0.003 41444 chr22 45258333 45258333 C G rs9614957 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV P387R 0.111 0.094 0.099 38 130 36 0.097 29 5 1 2 2 3.052 41445 chr4 7435721 7435721 C T rs6850206 PSAPL1 Nonsynonymous SNV V296M 0.235 0.25 0.221 91 276 96 0.233 65 32 11 6 9 19.2 41446 chr2 111559231 111559231 C A rs34466366 ACOXL Nonsynonymous SNV L184M 0.019 0.031 0.017 7 22 12 0.018 5 1 0 0 1 22.5 41447 chr22 26906089 26906089 G C rs34002213 TFIP11 Synonymous SNV T50T 0.03 0.063 0.044 17 35 24 0.044 13 0 0 0 0 6.713 41448 chr22 45577231 45577231 T C rs226524 NUP50 Synonymous SNV D356D 0.114 0.078 0.102 47 134 30 0.121 30 13 1 1 1 6.373 41449 chr22 39134207 39134207 C T rs2072797 SUN2 Nonsynonymous SNV G692S 0.104 0.086 0.129 46 122 33 0.118 38 4 2 5 1 29.8 41450 chr4 7436073 7436073 C T rs61740031 PSAPL1 Synonymous SNV A178A 0.236 0.25 0.221 91 277 96 0.233 65 32 11 6 9 12.86 41451 chr4 7436080 7436080 C T rs199512404 PSAPL1 Nonsynonymous SNV R176H 0.003 0.01 0.02 4 3 4 0.01 6 0 0 0 0 2.665 41452 chr2 111598958 111598958 C T rs1554005 ACOXL Nonsynonymous SNV T255M 0.147 0.135 0.146 87 172 52 0.223 43 9 4 5 8 21.5 41453 chr12 72070614 72070614 T A rs569320708 THAP2 Nonsynonymous SNV I138N 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 27.5 41454 chr21 45876821 45876821 C T rs61735247 LRRC3 Synonymous SNV N98N 0.032 0.049 0.041 17 38 19 0.044 12 1 2 0 0 5.959 41455 chr4 7436239 7436239 C T rs56402179 PSAPL1 Nonsynonymous SNV R123H 0.233 0.25 0.214 91 273 96 0.233 63 31 11 5 9 2.29 41456 chr22 39147235 39147235 A C rs35496634 SUN2 Nonsynonymous SNV L89R 0.093 0.076 0.109 41 109 29 0.105 32 4 2 4 1 23.6 41457 chr22 50960682 50960682 C T rs140524 NCAPH2 0.141 0.128 0.088 58 166 49 0.149 26 13 3 0 6 22.5 41458 chr4 7461769 7461769 A G rs12512664 MIR4274 0 0 0.388 0 0 0 0 114 0 0 18 0 3.849 41459 chr22 50962259 50962259 G A rs131811 SCO2 Synonymous SNV S194S 0.05 0.036 0.017 17 59 14 0.044 5 0 1 0 1 Benign/Likely benign 4.372 41460 chr4 7461826 7461826 - CCA rs10655902 MIR4274 0 0 0.946 0 0 0 0 278 0 0 132 0 41461 chr12 72956782 72956782 C T rs79522035 TRHDE Synonymous SNV I623I 0.023 0.029 0.048 9 27 11 0.023 14 0 0 0 0 13.36 41462 chr12 75693691 75693691 C T rs117647160 CAPS2 Synonymous SNV K174K 0.021 0.016 0.01 7 25 6 0.018 3 3 0 0 0 14.42 41463 chr22 45767369 45767369 A G rs470062 SMC1B Synonymous SNV F765F 0.129 0.141 0 37 152 54 0.095 0 8 3 0 1 4.929 41464 chr4 75937971 75937971 C T rs3822109 PARM1 Nonsynonymous SNV S127L 0.337 0.323 0.364 145 396 124 0.372 107 65 22 22 27 5.564 41465 chr22 50685332 50685332 G A rs61748567 HDAC10 Nonsynonymous SNV R476W 0.015 0.018 0 3 18 7 0.008 0 1 0 0 0 22.7 41466 chr2 112922638 112922638 T A rs147767836 FBLN7 Nonsynonymous SNV V99E 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 29.3 41467 chr4 75938179 75938179 G A rs3775527 PARM1 Synonymous SNV P196P 0.335 0.32 0.361 143 393 123 0.367 106 64 22 22 27 9.285 41468 chr4 75938236 75938236 A G rs1062293 PARM1 Synonymous SNV V215V 0.412 0.411 0.466 169 484 158 0.433 137 99 30 33 39 1.16 41469 chr2 113012526 113012526 G C rs181276061 ZC3H8 Synonymous SNV P11P 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 10.7 41470 chr12 13715954 13715954 G A rs1805246 GRIN2B Synonymous SNV F1406F 0.037 0.047 0.024 16 44 18 0.041 7 0 0 0 1 Benign/Likely benign 3.026 41471 chr4 76489582 76489582 G A rs2306174 ODAPH Nonsynonymous SNV R109H 0.093 0.102 0.109 35 109 39 0.09 32 6 1 0 1 0.29 41472 chr2 113332898 113332898 G A rs34628059 POLR1B Synonymous SNV Q789Q 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 4.396 41473 chr4 76857309 76857309 C T rs4859571 NAAA Nonsynonymous SNV V151I 0.207 0.174 0.197 69 243 67 0.177 58 28 2 4 4 0.001 41474 chr2 113479615 113479615 C T rs115950000 NT5DC4 Synonymous SNV R46R 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 8.77 41475 chr2 10044999 10044999 C G rs76120746 TAF1B Nonsynonymous SNV D18E 0.021 0.018 0.031 5 25 7 0.013 9 0 0 0 0 4.49 41476 chr4 76878688 76878688 G A rs2242470 SDAD1 Synonymous SNV D547D 0.225 0.182 0.207 76 264 70 0.195 61 30 2 5 4 7.913 41477 chr22 46762325 46762325 G T CELSR1 Nonsynonymous SNV T2753K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 41478 chr21 46271460 46271460 T C rs2236442 PTTG1IP Nonsynonymous SNV E84G 0.095 0.091 0.082 32 112 35 0.082 24 9 1 1 1 1.819 41479 chr22 46762903 46762903 G A rs142373429 CELSR1 Nonsynonymous SNV A2731V 0.013 0.016 0 0 15 6 0 0 0 0 0 0 31 41480 chr2 10045113 10045113 C T rs116114439 TAF1B Synonymous SNV Y56Y 0.046 0.047 0.014 15 54 18 0.038 4 2 0 0 0 9.597 41481 chr22 46768811 46768811 G A rs35852431 CELSR1 Synonymous SNV V2576V 0.041 0.044 0.02 9 48 17 0.023 6 1 0 0 0 14.66 41482 chr22 50928026 50928026 G A rs2232885 MIOX Synonymous SNV L234L 0.261 0.284 0.197 89 306 109 0.228 58 37 15 5 7 11.04 41483 chr4 77272926 77272926 G A rs183278785 CCDC158 Nonsynonymous SNV R829C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 35 41484 chr22 24123166 24123166 G A rs138017602 MMP11 Nonsynonymous SNV S246N 0.005 0.003 0 1 6 1 0.003 0 1 0 0 0 26.6 41485 chr21 46330229 46330229 C T rs35903905 ITGB2 Synonymous SNV S39S 0.031 0.047 0.024 10 36 18 0.026 7 0 0 0 0 Benign 16.3 41486 chr22 24236819 24236819 T C rs2096525 MIF-AS1 0.121 0.13 0.088 56 142 50 0.144 26 15 4 1 7 5.292 41487 chr22 24237221 24237221 C G rs2070766 MIF-AS1 0.144 0.146 0.112 66 169 56 0.169 33 16 3 1 8 7.153 41488 chr21 46909426 46909426 G A rs61731167 COL18A1 Synonymous SNV P830P 0.065 0.057 0.031 22 76 22 0.056 9 1 0 0 0 Benign 4.665 41489 chr22 50217387 50217387 G A rs11912787 BRD1 Synonymous SNV F193F 0.105 0.073 0.122 35 123 28 0.09 36 3 0 2 6 9.816 41490 chr2 10095185 10095185 T C rs16867251 GRHL1 Synonymous SNV D54D 0.131 0.174 0.177 49 154 67 0.126 52 11 6 2 2 0.002 41491 chr21 46911188 46911188 C G rs79980197 COL18A1 Nonsynonymous SNV P886R 0.076 0.049 0.041 25 89 19 0.064 12 4 0 0 0 Benign/Likely benign 25.1 41492 chr4 79205699 79205699 T A rs12504081 FRAS1 Nonsynonymous SNV L466I 0.323 0.302 0.388 130 379 116 0.333 114 65 16 23 18 Benign 21.1 41493 chr2 10101468 10101468 A G rs16867256 GRHL1 Nonsynonymous SNV N191S 0.131 0.174 0.177 49 154 67 0.126 52 11 6 2 2 0.001 41494 chr12 15656846 15656846 C G rs61754411 PTPRO Nonsynonymous SNV N370K 0.015 0.023 0.007 12 18 9 0.031 2 0 0 0 0 25.7 41495 chr22 50969647 50969647 C G rs139023197 ODF3B Nonsynonymous SNV G131R 0.075 0.073 0.051 30 88 28 0.077 15 2 1 0 1 23 41496 chr4 79240063 79240063 A G rs345513 FRAS1 Nonsynonymous SNV D687G 0.371 0.357 0.442 149 436 137 0.382 130 80 15 31 25 Benign 0.009 41497 chr12 15811051 15811051 C T rs749167240 EPS8 Nonsynonymous SNV A355T 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 23.3 41498 chr22 51019973 51019973 A G rs146693439 CHKB Synonymous SNV L153L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.22 41499 chr2 114476760 114476760 A C rs41279748 SLC35F5 Synonymous SNV A483A 0.012 0.018 0.01 11 14 7 0.028 3 0 1 0 1 0.07 41500 chr21 47552103 47552103 G T rs11554669 COL6A2 Synonymous SNV T899T 0.035 0.036 0.031 18 41 14 0.046 9 1 0 0 1 Benign/Likely benign 1.411 41501 chr22 42293140 42293140 G C rs2228313 SREBF2 Nonsynonymous SNV R860S 0.037 0.052 0.051 35 43 20 0.09 15 0 0 1 0 12.87 41502 chr22 42300948 42300948 C A rs17848337 SREBF2 Synonymous SNV R1059R 0.035 0.044 0.051 33 41 17 0.085 15 0 0 1 0 20.7 41503 chr21 47571499 47571499 C T rs765995982 FTCD, FTCD-AS1 Synonymous SNV R17R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.91 41504 chr22 42307239 42307239 G A rs117492772 SHISA8 Synonymous SNV G215G 0.026 0.031 0.027 33 31 12 0.085 8 0 0 1 0 10.85 41505 chr22 50439626 50439626 G A rs9617098 IL17REL Synonymous SNV P55P 0.031 0.018 0.027 6 36 7 0.015 8 0 0 0 1 3.167 41506 chr21 47581538 47581538 G A rs569907908 SPATC1L Nonsynonymous SNV R106C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.7 41507 chr22 42341363 42341363 G A rs73165153 CENPM Synonymous SNV S53S 0.038 0.047 0.065 34 45 18 0.087 19 0 0 1 0 2.801 41508 chr22 42341934 42341934 A G rs35542507 CENPM Synonymous SNV N37N 0.038 0.047 0.065 34 45 18 0.087 19 0 0 1 0 2.892 41509 chr22 50515270 50515270 T C rs6010164 MLC1 Synonymous SNV S199S 0.121 0.161 0.143 38 142 62 0.097 42 13 6 1 0 Benign 0.338 41510 chr22 31061521 31061521 A G rs117531294 SLC35E4 Nonsynonymous SNV R221G 0.048 0.018 0.051 23 56 7 0.059 15 2 0 1 0 11.66 41511 chr2 102472459 102472459 A G rs1139583 MAP4K4 Synonymous SNV E418E 0.146 0.146 0.143 66 171 56 0.169 42 18 6 6 5 10.3 41512 chr22 50515273 50515273 G A rs6010165 MLC1 Synonymous SNV Y198Y 0.121 0.161 0.143 38 142 62 0.097 42 13 6 1 0 Benign 0.018 41513 chr4 80329343 80329343 T C rs6837906 GK2 Synonymous SNV P4P 0.199 0.159 0.184 67 234 61 0.172 54 22 6 3 5 0.005 41514 chr2 10262845 10262845 T C rs72542786 RRM2 Nonsynonymous SNV C34R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 3.212 41515 chr22 50515843 50515843 C A rs6010260 MLC1 Nonsynonymous SNV C171F 0.121 0.161 0.129 38 142 62 0.097 38 13 6 1 0 Benign 24.4 41516 chr12 88900891 88900891 C A rs41283112 KITLG Nonsynonymous SNV D182Y 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 Benign 24.9 41517 chr22 31286891 31286891 C T OSBP2 Synonymous SNV N144N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 41518 chr2 119739063 119739063 T C rs6761637 MARCO Nonsynonymous SNV F282S 0.078 0.073 0.088 22 91 28 0.056 26 4 1 2 0 6.631 41519 chr22 42473860 42473860 C G rs1807493 PHETA2 Nonsynonymous SNV A188G 0.261 0.227 0.252 102 307 87 0.262 74 38 10 9 14 0.001 41520 chr2 102792875 102792875 A C rs3917320 IL1R1 Synonymous SNV R312R 0.096 0.104 0.109 40 113 40 0.103 32 5 1 3 1 0.327 41521 chr2 102851708 102851708 T C rs2302612 IL1RL2 Nonsynonymous SNV L408P 0.228 0.216 0.214 68 268 83 0.174 63 34 8 6 5 3.903 41522 chr2 102955408 102955408 C T rs140931129 IL1RL1 Nonsynonymous SNV P58L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 16.05 41523 chr22 42606257 42606257 C T rs2070116 TCF20 Synonymous SNV S1685S 0.237 0.201 0.221 102 278 77 0.262 65 30 6 10 13 10.62 41524 chr4 82126121 82126121 C G rs17484474 PRKG2 Synonymous SNV R27R 0.049 0.036 0.048 17 57 14 0.044 14 0 0 1 0 8.023 41525 chr2 102956715 102956715 C T rs141010284 IL1RL1 Nonsynonymous SNV P27S 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 23.8 41526 chr22 31679276 31679276 T - rs926064535 PIK3IP1 0 0 0 2 0 0 0.005 0 0 0 0 0 41527 chr2 120125053 120125053 C G rs3731608 DBI Stop gain Y47X 0.152 0.146 0.105 64 178 56 0.164 31 13 4 2 4 25.4 41528 chr2 120125058 120125058 C T rs3731607 DBI Nonsynonymous SNV A49V 0.152 0.146 0.099 64 178 56 0.164 29 13 4 1 4 16.55 41529 chr12 94575249 94575249 A G rs755744191 PLXNC1 Nonsynonymous SNV N411D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.37 41530 chr12 94975993 94975996 CTAA - TMCC3 L102Sfs*27 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 41531 chr12 22213786 22213786 C T rs10841930 CMAS Synonymous SNV Y238Y 0.057 0.057 0.065 28 67 22 0.072 19 2 1 1 0 12.83 41532 chr22 26936766 26936766 G A rs58274935 TPST2 Synonymous SNV V277V 0.073 0.086 0.061 27 86 33 0.069 18 3 1 2 4 8.896 41533 chr4 8242499 8242499 G A rs1048506 SH3TC1 Synonymous SNV Q1200Q 0.026 0.036 0.044 17 30 14 0.044 13 0 0 0 0 10.16 41534 chr4 83582083 83582083 G A rs17006063 SCD5 Synonymous SNV S239S 0.082 0.065 0.078 30 96 25 0.077 23 6 0 1 2 0.132 41535 chr2 120409616 120409616 G T rs11686014 CFAP221 Nonsynonymous SNV M795I 0.156 0.159 0.143 76 183 61 0.195 42 8 6 5 7 8.024 41536 chr4 83795806 83795806 T C rs10025654 SEC31A Synonymous SNV R194R 0.49 0.482 0.517 196 575 185 0.503 152 146 41 41 51 5.636 41537 chr2 120438515 120438515 G C rs11684353 TMEM177 Nonsynonymous SNV G29A 0.165 0.159 0.15 71 194 61 0.182 44 10 7 5 6 11.74 41538 chr2 103141583 103141583 G A rs61731289 SLC9A4 Nonsynonymous SNV R640K 0.038 0.029 0.014 16 45 11 0.041 4 0 0 0 0 10.46 41539 chr12 25157453 25157453 G A rs1011656 LOC645177 Nonsynonymous SNV V60I 0.105 0.096 0 47 123 37 0.121 0 4 4 0 4 14.41 41540 chr4 83838262 83838262 G T rs897945 THAP9 Nonsynonymous SNV L299F 0.498 0.458 0.527 200 585 176 0.513 155 138 38 45 52 0.25 41541 chr22 29630337 29630337 G A rs3950176 EMID1 Nonsynonymous SNV R356Q 0.078 0.063 0.075 22 91 24 0.056 22 2 1 1 2 18.28 41542 chr4 8390948 8390948 C T rs13434465 ACOX3 Nonsynonymous SNV D497N 0.055 0.07 0.051 23 65 27 0.059 15 0 2 0 1 Benign 5.413 41543 chr12 96408763 96408763 C T rs147001898 LTA4H Synonymous SNV G358G 0.018 0.016 0.017 8 21 6 0.021 5 0 0 0 1 Benign 18.14 41544 chr22 44322922 44322922 T G rs2076213 PNPLA3 Nonsynonymous SNV C99G 0.097 0.099 0.068 37 114 38 0.095 20 5 0 0 0 Benign 0.007 41545 chr2 1204796 1204796 C T rs6751090 SNTG2 Nonsynonymous SNV S200L 0.113 0.13 0.099 36 133 50 0.092 29 7 4 1 1 22.5 41546 chr22 32200849 32200849 C T rs41311139 DEPDC5 Nonsynonymous SNV R361C 0.014 0.021 0.017 4 17 8 0.01 5 0 1 1 0 Benign 21.9 41547 chr4 8394094 8394094 G A rs28627156 ACOX3 Synonymous SNV C422C 0.1 0.115 0.078 41 117 44 0.105 23 7 5 0 2 Benign 12.44 41548 chr2 105977776 105977776 G A rs3087523 FHL2 Synonymous SNV D154D 0.126 0.154 0.082 39 148 59 0.1 24 9 3 1 0 Benign 12.08 41549 chr4 84206004 84206004 T A rs112033303 COQ2 Stop gain R22X 0.035 0.026 0.031 16 41 10 0.041 9 0 1 0 0 Benign/Likely benign 23 41550 chr2 120979946 120979946 C T rs551008780 TMEM185B Nonsynonymous SNV V203I 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 12.18 41551 chr12 26275827 26275827 C G rs61754129 BHLHE41 Synonymous SNV A207A 0.014 0.008 0.017 8 16 3 0.021 5 0 0 0 0 17.17 41552 chr22 30639993 30639993 C T rs41281637 LIF Nonsynonymous SNV R26H 0.008 0.008 0.014 9 9 3 0.023 4 0 0 0 0 Benign 22.4 41553 chr2 103040859 103040859 G A rs371835232 IL18RAP Synonymous SNV A188A 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 10.9 41554 chr4 8451460 8451460 C A rs61739067 TRMT44 Nonsynonymous SNV P26T 0.055 0.065 0.051 23 65 25 0.059 15 0 1 0 1 13.62 41555 chr2 122489679 122489679 G A rs959705711 NIFK Synonymous SNV L115L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 4.382 41556 chr4 8472839 8472839 C T rs17202499 TRMT44 Synonymous SNV N411N 0.053 0.06 0.051 23 62 23 0.059 15 0 1 0 1 15.12 41557 chr22 50921054 50921054 C T rs762008830 ADM2 Nonsynonymous SNV P57S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.68 41558 chr22 30768305 30768305 A G rs192828024 KIAA1656 0.013 0.005 0.01 8 15 2 0.021 3 0 0 0 0 1.484 41559 chr22 50928005 50928005 G A rs2232884 MIOX Synonymous SNV T227T 0.059 0.047 0.054 35 69 18 0.09 16 0 1 1 0 6.317 41560 chr22 35782871 35782871 G A rs11555830 HMOX1 Nonsynonymous SNV R113H 0.003 0 0 0 3 0 0 0 0 0 0 0 8.232 41561 chr4 8605860 8605860 C A rs28421391 CPZ Nonsynonymous SNV D207E 0.004 0.005 0.017 0 5 2 0 5 0 0 0 0 10.63 41562 chr2 105915128 105915128 G A rs12476720 TGFBRAP1 Synonymous SNV R241R 0.096 0.083 0.122 43 113 32 0.11 36 7 1 1 0 12.74 41563 chr22 18300775 18300775 G A rs61744842 MICAL3 Nonsynonymous SNV P1551L 0.027 0.023 0.024 5 32 9 0.013 7 0 0 0 0 10.96 41564 chr22 18304821 18304821 G A rs45514595 MICAL3 Synonymous SNV P1141P 0.039 0.036 0.037 11 46 14 0.028 11 0 0 0 0 9.62 41565 chr4 8621172 8621172 G A rs61734020 CPZ Nonsynonymous SNV R585Q 0.009 0.016 0.017 0 11 6 0 5 0 0 0 0 1.945 41566 chr22 18304891 18304891 C T rs45544141 MICAL3 Nonsynonymous SNV R1118H 0.039 0.036 0.037 11 46 14 0.028 11 0 0 0 0 12.71 41567 chr22 50964255 50964255 C T rs112723255 TYMP Nonsynonymous SNV A465T 0.093 0.086 0.082 46 109 33 0.118 24 7 3 0 4 Benign/Likely benign 20.5 41568 chr4 8621269 8621269 C T rs61734024 CPZ Synonymous SNV D617D 0.008 0.016 0.017 0 9 6 0 5 0 0 0 0 13.3 41569 chr4 86844835 86844835 A G rs6824722 ARHGAP24 Synonymous SNV E6E 0.209 0.19 0.228 103 245 73 0.264 67 19 6 7 8 6.858 41570 chr2 128459214 128459214 C G rs10206957 SFT2D3 Nonsynonymous SNV R38G 0.241 0.211 0.18 104 283 81 0.267 53 94 26 14 38 13.12 41571 chr22 18358301 18358301 C T rs5992882 MICAL3 Nonsynonymous SNV R806H 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 21 41572 chr22 50987843 50987843 C T rs61746062 KLHDC7B Synonymous SNV Y1057Y 0.115 0.099 0.092 47 135 38 0.121 27 8 2 1 3 8.335 41573 chr2 110259165 110259165 C T rs945392506 SH3RF3 Nonsynonymous SNV R856C 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 34 41574 chr22 51063610 51063610 C T rs6151428 ARSA Nonsynonymous SNV R498H 0.032 0.021 0.02 15 37 8 0.038 6 0 0 0 1 Benign/Likely benign 5.622 41575 chr4 87968653 87968653 G C rs750507993 AFF1 Nonsynonymous SNV E315D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 41576 chr2 131096717 131096717 C T rs73960309 CCDC115 Synonymous SNV K168K 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 Benign 11.96 41577 chr4 88036378 88036378 C T rs142319329 AFF1 Nonsynonymous SNV P429L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.736 41578 chr22 51064416 51064416 T C rs2071421 ARSA Nonsynonymous SNV N352S 0.129 0.107 0.129 61 152 41 0.156 38 16 1 3 6 Benign/Likely benign, other 15.45 41579 chr4 882643 882643 G A rs2279181 GAK Synonymous SNV S320S 0.104 0.102 0.112 40 122 39 0.103 33 4 0 0 2 13.25 41580 chr2 111417555 111417555 C T BUB1 Nonsynonymous SNV G406R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.4 41581 chr22 51065600 51065600 G A rs6151412 ARSA Synonymous SNV H153H 0.03 0.021 0.024 14 35 8 0.036 7 0 0 0 1 Benign 0.6 41582 chr4 88401616 88401616 A G rs9933 SPARCL1 Synonymous SNV D450D 0.644 0.607 0.643 233 756 233 0.597 189 228 72 59 66 5.597 41583 chr4 88412806 88412806 T C rs1130643 SPARCL1 Nonsynonymous SNV T294A 0.086 0.091 0.133 34 101 35 0.087 39 2 1 2 2 0.002 41584 chr22 46807510 46807510 G A rs34129506 CELSR1 Synonymous SNV T1586T 0.024 0.018 0.024 13 28 7 0.033 7 0 0 0 0 13.2 41585 chr4 88415636 88415636 G C rs1049544 SPARCL1 Nonsynonymous SNV H106D 0.431 0.372 0.432 170 506 143 0.436 127 102 29 25 37 0.007 41586 chr22 37420611 37420611 G A rs200819647 MPST Nonsynonymous SNV A119T 0.01 0.013 0 2 12 5 0.005 0 0 0 0 0 23.4 41587 chr4 88416188 88416188 G T rs13051 SPARCL1 Nonsynonymous SNV A49D 0.43 0.372 0.435 171 505 143 0.438 128 102 29 25 37 2.917 41588 chr4 88416223 88416223 A G rs8342 SPARCL1 Synonymous SNV P37P 0.632 0.591 0.639 233 742 227 0.597 188 221 69 58 66 0.025 41589 chr2 111551725 111551725 G A rs150003283 ACOXL Nonsynonymous SNV E107K 0.013 0.01 0.003 5 15 4 0.013 1 0 0 0 0 25.1 41590 chr12 31820670 31820670 G A rs370377082 ETFBKMT Nonsynonymous SNV D179N 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 22 41591 chr4 88766969 88766969 A G rs61731014 MEPE Nonsynonymous SNV I317V 0.061 0.063 0.058 17 72 24 0.044 17 4 0 1 0 0.002 41592 chr2 133541107 133541107 T A rs16841277 NCKAP5 Nonsynonymous SNV N1093Y 0.194 0.208 0.252 92 228 80 0.236 74 17 11 14 8 23.1 41593 chr4 89300101 89300101 A G rs111670008 HERC6 Nonsynonymous SNV R10G 0.097 0.104 0.085 37 114 40 0.095 25 8 4 3 1 0.953 41594 chr2 112786049 112786049 G A rs2230517 MERTK Nonsynonymous SNV V870I 0.021 0.008 0.017 6 25 3 0.015 5 0 0 0 0 Benign/Likely benign 0.003 41595 chr4 89306659 89306659 T C rs7677237 HERC6 Nonsynonymous SNV M123T 0.103 0.099 0.082 33 121 38 0.085 24 9 4 3 0 0.093 41596 chr2 133541651 133541651 C T rs184979029 NCKAP5 Synonymous SNV T911T 0.009 0 0.003 2 10 0 0.005 1 0 0 0 0 Benign 9.427 41597 chr2 112786357 112786357 G A rs10205793 MERTK Synonymous SNV S972S 0.02 0.008 0.017 6 24 3 0.015 5 0 0 0 0 Benign/Likely benign 2.49 41598 chr2 133542574 133542574 C T rs61995744 NCKAP5 Nonsynonymous SNV V604M 0.195 0.208 0.262 92 229 80 0.236 77 17 11 14 8 0.001 41599 chr22 38055329 38055329 A G rs375352966 PDXP Synonymous SNV P180P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 41600 chr12 33532804 33532804 T G rs34190017 SYT10 Nonsynonymous SNV H488P 0.023 0.021 0.017 9 27 8 0.023 5 0 0 0 0 12.23 41601 chr4 89772321 89772321 C T rs115194267 FAM13A Nonsynonymous SNV R286K 0.028 0.036 0.027 13 33 14 0.033 8 0 0 0 0 9.152 41602 chr2 113251880 113251880 G A rs61733584 TTL Nonsynonymous SNV A133T 0.003 0.01 0.007 2 4 4 0.005 2 0 0 0 0 Benign 18.27 41603 chr12 33560059 33560059 G A rs35513108 SYT10 Synonymous SNV L248L 0.023 0.023 0.014 10 27 9 0.026 4 0 0 0 0 9.092 41604 chr4 89950787 89950787 G A rs114577372 FAM13A Nonsynonymous SNV A14V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 27.7 41605 chr4 90034380 90034380 G A rs144419594 TIGD2 Synonymous SNV E85E 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 2.882 41606 chr4 90034686 90034686 A G rs17015027 TIGD2 Synonymous SNV P187P 0.108 0.112 0.133 60 127 43 0.154 39 5 3 3 6 0.865 41607 chr4 90170118 90170118 A G rs28622301 GPRIN3 Nonsynonymous SNV S382P 0.1 0.115 0.126 26 117 44 0.067 37 7 2 3 2 0.571 41608 chr2 10187901 10187901 C T rs148968483 KLF11 Nonsynonymous SNV A129V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.666 41609 chr2 113994079 113994079 C T rs77270532 PAX8-AS1 0.124 0.099 0.027 45 146 38 0.115 8 13 4 0 3 14.6 41610 chr22 50694050 50694050 G A rs140516316 MAPK12 Synonymous SNV S245S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.254 41611 chr2 113514159 113514159 T A rs17042341 CKAP2L Nonsynonymous SNV R98S 0.061 0.06 0.051 22 72 23 0.056 15 4 0 0 0 23.2 41612 chr22 50696678 50696678 G A rs34422484 MAPK12 Nonsynonymous SNV T103M 0.029 0.031 0.051 13 34 12 0.033 15 0 0 1 0 17.28 41613 chr4 951947 951947 T C rs34311866 TMEM175 Nonsynonymous SNV M311T 0.217 0.203 0.218 83 255 78 0.213 64 28 6 7 8 4.471 41614 chr2 113514180 113514180 T C rs17042342 CKAP2L Synonymous SNV V91V 0.061 0.06 0.051 22 72 23 0.056 15 4 0 0 0 1.516 41615 chr4 95197520 95197520 C T rs6823404 SMARCAD1 Synonymous SNV D183D 0.513 0.497 0.544 203 602 191 0.521 160 157 46 38 47 15.85 41616 chr2 113514763 113514763 T C rs17042344 CKAP2L Nonsynonymous SNV N62S 0.054 0.052 0.048 19 63 20 0.049 14 4 0 0 0 0.008 41617 chr4 95496882 95496882 C T rs2452600 PDLIM5 Nonsynonymous SNV S14F 0.355 0.367 0.262 126 417 141 0.323 77 63 28 10 22 19.48 41618 chr2 11758429 11758429 G A rs145454387 GREB1 Nonsynonymous SNV G1143D 0.031 0.031 0.037 7 36 12 0.018 11 0 0 0 0 19.12 41619 chr2 102638698 102638698 A G rs183091210 IL1R2 Nonsynonymous SNV I246M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.76 41620 chr2 102781649 102781649 C G rs2228139 IL1R1 Nonsynonymous SNV A124G 0.06 0.086 0.024 24 71 33 0.062 7 3 1 0 1 0.322 41621 chr2 113943675 113943675 T C PSD4 Nonsynonymous SNV S491P 0.003 0 0 0 3 0 0 0 0 0 0 0 16.76 41622 chr2 102842467 102842467 T C rs2302620 IL1RL2 Synonymous SNV Y225Y 0.091 0.07 0.068 15 107 27 0.038 20 4 2 0 0 0.005 41623 chr2 116447277 116447277 G A rs35766316 DPP10 Synonymous SNV S113S 0.091 0.102 0.082 48 107 39 0.123 24 6 4 4 6 11.09 41624 chr2 119604255 119604255 C T rs79126103 EN1 Synonymous SNV A163A 0.087 0.091 0.031 46 102 35 0.118 9 4 0 1 1 10.9 41625 chr2 116503671 116503671 G A rs36044503 DPP10 Nonsynonymous SNV V34M 0.09 0.102 0.136 46 106 39 0.118 40 7 3 5 6 18.44 41626 chr4 96140151 96140151 C T rs61741188 UNC5C Synonymous SNV S538S 0.032 0.039 0.075 14 38 15 0.036 22 0 0 1 2 14.51 41627 chr22 50927519 50927519 C T rs371735856 MIOX Synonymous SNV S153S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.88 41628 chr2 11733134 11733134 C G rs76842987 GREB1 Synonymous SNV A526A 0.043 0.055 0.017 17 51 21 0.044 5 2 0 0 0 15.27 41629 chr12 42538367 42538367 C T rs749751445 GXYLT1 Nonsynonymous SNV V28M 0.031 0.031 0.003 22 36 12 0.056 1 0 0 0 0 19.11 41630 chr4 9922167 9922167 C T rs16890979 SLC2A9 Nonsynonymous SNV V282I 0.265 0.294 0.262 101 311 113 0.259 77 44 18 6 12 Benign 11.31 41631 chr2 11772160 11772160 C T rs201715540 GREB1 Synonymous SNV Y1579Y 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 3.212 41632 chr12 108012066 108012066 G A rs61753394 BTBD11 Nonsynonymous SNV S325N 0.016 0.029 0.007 5 19 11 0.013 2 0 0 0 0 23.3 41633 chr2 141298635 141298635 C T rs146867394 LRP1B Nonsynonymous SNV G2474S 0.02 0.01 0.02 15 24 4 0.038 6 1 0 0 0 Likely benign 29 41634 chr4 99397440 99397440 A G TSPAN5 Nonsynonymous SNV I214T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.43 41635 chr2 11810091 11810091 G A rs114415067 NTSR2 Synonymous SNV H55H 0.078 0.076 0.102 26 92 29 0.067 30 5 2 2 2 15.9 41636 chr5 101816104 101816104 G A rs6884141 SLCO6A1 Synonymous SNV G131G 0.189 0.216 0.201 79 222 83 0.203 59 19 9 6 5 7.204 41637 chr5 102345546 102345546 A C rs2230457 PAM Synonymous SNV I662I 0.272 0.224 0.235 95 319 86 0.244 69 44 6 7 9 0.212 41638 chr5 10239261 10239261 G A rs2438652 ATPSCKMT Nonsynonymous SNV T75M 0.149 0.135 0.204 64 175 52 0.164 60 16 2 5 6 23.6 41639 chr12 108133333 108133333 A - LOC101929162 0.003 0.003 0 0 3 1 0 0 0 0 0 0 41640 chr2 1418192 1418192 C G rs9678281 TPO Synonymous SNV L4L 0.337 0.32 0.316 126 396 123 0.323 93 58 24 16 20 Benign 1.735 41641 chr2 103335441 103335441 A G rs33993717 MFSD9 Nonsynonymous SNV I227T 0.072 0.055 0.054 29 85 21 0.074 16 0 0 0 3 25.5 41642 chr5 102440383 102440383 C T rs17851288 GIN1 Synonymous SNV L20L 0.023 0.036 0.037 13 27 14 0.033 11 0 0 0 1 10.42 41643 chr2 118743630 118743630 G A rs33975708 CCDC93 Nonsynonymous SNV R179C 0.11 0.115 0.088 38 129 44 0.097 26 7 2 0 2 27.4 41644 chr22 37333936 37333936 C T rs16997517 CSF2RB Nonsynonymous SNV P696S 0.025 0.023 0.02 4 29 9 0.01 6 0 0 0 0 Benign 4.46 41645 chr22 50964236 50964236 G A rs11479 TYMP Nonsynonymous SNV S471L 0.083 0.091 0.058 40 98 35 0.103 17 5 1 0 3 Benign 24.1 41646 chr12 48137324 48137324 T C RAPGEF3 Nonsynonymous SNV N563S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 13.02 41647 chr5 10256172 10256172 A T rs11557652 CCT5 Nonsynonymous SNV E91V 0.02 0.029 0.034 9 23 11 0.023 10 0 0 0 0 Benign 23.2 41648 chr22 51015838 51015838 T C rs3213445 CPT1B Nonsynonymous SNV I66V 0.039 0.052 0.051 31 46 20 0.079 15 2 0 0 1 0.013 41649 chr2 119752066 119752066 G C rs61732822 MARCO Nonsynonymous SNV E511D 0.012 0.003 0.01 3 14 1 0.008 3 0 0 0 0 0.001 41650 chr22 40283427 40283427 A G rs17319801 ENTHD1 Nonsynonymous SNV I109T 0.05 0.049 0.044 20 59 19 0.051 13 3 0 0 0 26 41651 chr5 1057732 1057732 G A rs116532357 SLC12A7 Synonymous SNV S960S 0.015 0.021 0.017 11 18 8 0.028 5 0 0 0 0 2.665 41652 chr2 10712278 10712278 C T rs3732114 NOL10 Synonymous SNV L636L 0.077 0.076 0.088 29 90 29 0.074 26 4 1 1 2 12.33 41653 chr12 109520769 109520769 A G rs16939904 USP30 Nonsynonymous SNV H357R 0.105 0.099 0.092 28 123 38 0.072 27 2 3 1 1 8.634 41654 chr2 120005312 120005312 G A rs17013371 STEAP3 Nonsynonymous SNV A184T 0.028 0.057 0.058 16 33 22 0.041 17 1 0 1 0 0.766 41655 chr22 23482483 23482483 G A rs35211242 RSPH14 Nonsynonymous SNV T42M 0.126 0.115 0.102 48 148 44 0.123 30 10 1 0 3 23.5 41656 chr2 120015197 120015197 A T rs6542517 STEAP3 Nonsynonymous SNV Q450H 0.026 0.055 0.058 18 30 21 0.046 17 1 0 1 0 1.655 41657 chr2 107446665 107446665 G C rs144829459 ST6GAL2 Nonsynonymous SNV T392S 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 23.2 41658 chr2 122038736 122038736 G A rs11679408 TFCP2L1 Synonymous SNV A58A 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 10.89 41659 chr2 122216419 122216419 A G rs2304560 CLASP1 Synonymous SNV I437I 0.087 0.099 0.082 32 102 38 0.082 24 5 2 1 1 5.999 41660 chr2 152349930 152349930 - G NEB Frameshift insertion T6379Nfs*13 0.004 0 0 2 5 0 0.005 0 0 0 0 0 41661 chr5 10973727 10973727 G A rs1566622 CTNND2 Synonymous SNV F835F 0.055 0.057 0.065 20 64 22 0.051 19 1 0 2 0 8.665 41662 chr5 110097181 110097181 C G SLC25A46 Nonsynonymous SNV A238G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 41663 chr22 37900276 37900276 A G rs3817803 CARD10 Synonymous SNV N517N 0.136 0.13 0.126 38 160 50 0.097 37 14 5 2 3 6.546 41664 chr22 37900762 37900762 G A rs3817805 CARD10 Synonymous SNV S466S 0.136 0.133 0.136 39 160 51 0.1 40 14 5 2 3 12.9 41665 chr2 128381808 128381808 C T rs13422424 MYO7B Synonymous SNV H1294H 0.222 0.227 0.224 90 261 87 0.231 66 30 14 10 8 14.39 41666 chr5 110818556 110818556 C T CAMK4 Nonsynonymous SNV T104I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 41667 chr5 111311054 111311054 G A rs199750052 NREP Stop gain R18X 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 13.94 41668 chr2 101192883 101192883 G A rs4618078 PDCL3 Synonymous SNV P215P 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 9.216 41669 chr2 128608184 128608184 C T rs11556864 POLR2D Synonymous SNV E110E 0.112 0.109 0.085 49 131 42 0.126 25 5 2 3 2 16.95 41670 chr5 111481600 111481600 A T rs56071312 EPB41L4A Nonsynonymous SNV D676E 0.155 0.128 0.153 66 182 49 0.169 45 16 4 4 8 3.869 41671 chr5 111481696 111481696 C T rs17134155 EPB41L4A 0.18 0.135 0.184 75 211 52 0.192 54 19 2 6 7 0.988 41672 chr5 111496801 111496801 G - rs151031117 EPB41L4A-AS1 0 0 0.207 0 0 0 0 61 0 0 6 0 41673 chr22 38061637 38061637 A T rs142028345 PDXP Nonsynonymous SNV Y217F 0.025 0.026 0.003 7 29 10 0.018 1 0 1 0 0 23.2 41674 chr5 111496904 111496904 C - rs138852863 EPB41L4A-AS1 0 0 0.146 0 0 0 0 43 0 0 3 0 41675 chr5 111497307 111497307 T G rs17266115 SNORA13 0 0 0.15 0 0 0 0 44 0 0 4 0 18.28 41676 chr22 42783019 42783019 G A rs45551335 NFAM1 Synonymous SNV T243T 0.034 0.031 0.031 7 40 12 0.018 9 2 0 0 0 9.581 41677 chr12 110927882 110927882 A G rs17851852 FAM216A Synonymous SNV L254L 0.055 0.063 0.037 20 64 24 0.051 11 0 2 1 0 8.105 41678 chr12 111318982 111318982 C G rs372278730 CCDC63 Stop gain Y166X 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 38 41679 chr2 131096792 131096792 G A rs138149585 CCDC115 Synonymous SNV A143A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.47 41680 chr12 48736830 48736830 G A rs117955318 ZNF641 Synonymous SNV L392L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 7.236 41681 chr2 153468107 153468107 C T rs35776654 FMNL2 Synonymous SNV D350D 0.104 0.091 0.075 32 122 35 0.082 22 7 3 1 1 15.64 41682 chr2 153533188 153533188 A C rs71417237 PRPF40A Synonymous SNV V278V 0.02 0.021 0.01 9 23 8 0.023 3 0 0 0 0 3.659 41683 chr12 112580071 112580071 C T rs7970397 TRAFD1 Synonymous SNV G274G 0.055 0.065 0.082 39 64 25 0.1 24 1 0 0 1 19.29 41684 chr2 131673702 131673702 G A rs62178867 ARHGEF4 Nonsynonymous SNV S728N 0.26 0.198 0.269 111 305 76 0.285 79 40 8 9 19 5.037 41685 chr12 112583447 112583447 A C rs79680080 TRAFD1 Nonsynonymous SNV E303A 0.009 0.01 0.017 10 11 4 0.026 5 0 0 0 0 26 41686 chr2 131688587 131688587 G A rs6718816 ARHGEF4 Synonymous SNV A1205A 0.194 0.159 0.241 74 228 61 0.19 71 20 6 7 7 8.094 41687 chr2 131688783 131688783 G A rs61750360 ARHGEF4 Nonsynonymous SNV V1271I 0.19 0.154 0.214 73 223 59 0.187 63 18 5 5 7 3.163 41688 chr22 38212624 38212624 C T rs17856459 GCAT Nonsynonymous SNV R413W 0.032 0.036 0.027 12 37 14 0.031 8 0 1 0 0 35 41689 chr5 112343662 112343662 - AACAGTATC DCP2 Q327_D328insQYQ 0 0 0.003 0 0 0 0 1 0 0 0 0 41690 chr2 15770973 15770973 G A rs145077139 DDX1 Synonymous SNV A722A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 11.14 41691 chr22 43579063 43579063 C T rs746080730 TTLL12 Synonymous SNV Q90Q 0 0 0 0 0 0 0 0 0 0 0 0 13.3 41692 chr2 158115129 158115129 A T rs61748237 GALNT5 Nonsynonymous SNV T179S 0.131 0.112 0.133 51 154 43 0.131 39 12 2 3 6 0.638 41693 chr2 128522207 128522207 C T rs17534123 WDR33 Nonsynonymous SNV R274Q 0.105 0.073 0.102 33 123 28 0.085 30 5 2 2 3 12.85 41694 chr2 128522383 128522383 T C rs11557685 WDR33 Synonymous SNV P215P 0.106 0.073 0.102 33 124 28 0.085 30 5 2 2 3 13.64 41695 chr2 128610648 128610648 T C rs10210695 POLR2D Synonymous SNV S35S 0.158 0.151 0.15 53 186 58 0.136 44 14 7 2 5 8.682 41696 chr22 43614316 43614316 C G rs9620123 SCUBE1 Synonymous SNV A612A 0.198 0.185 0.15 74 232 71 0.19 44 20 5 3 7 15.02 41697 chr2 105472055 105472055 T C rs186512421 POU3F3 Synonymous SNV A29A 0.007 0 0.109 2 8 0 0.005 32 4 0 14 1 2.712 41698 chr2 113674709 113674709 C G rs2708943 IL37 Nonsynonymous SNV P29R 0.086 0.073 0.082 30 101 28 0.077 24 1 0 0 0 19.34 41699 chr2 159195562 159195562 A G rs61746487 CCDC148 Synonymous SNV F28F 0.067 0.052 0.058 21 79 20 0.054 17 3 0 0 2 5.699 41700 chr2 113674721 113674721 A G rs2723183 IL37 Nonsynonymous SNV N33S 0.086 0.073 0.082 30 101 28 0.077 24 1 0 0 0 0.001 41701 chr2 105959592 105959592 G A rs28930676 C2orf49 Nonsynonymous SNV G185D 0.067 0.057 0.071 35 79 22 0.09 21 3 3 1 2 10.62 41702 chr22 43933357 43933357 C A rs143251330 EFCAB6 Nonsynonymous SNV R1164S 0.009 0.018 0 4 11 7 0.01 0 0 0 0 0 22.5 41703 chr12 113398968 113398968 G A rs35508906 OAS3 Nonsynonymous SNV A584T 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.021 41704 chr2 113675269 113675269 C T rs2723187 IL37 Nonsynonymous SNV P47L 0.086 0.073 0.082 30 101 28 0.077 24 1 0 0 0 20.7 41705 chr2 131672824 131672824 A G rs749340473 ARHGEF4 Synonymous SNV S435S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 5.314 41706 chr2 113676219 113676219 T C rs2708947 IL37 Nonsynonymous SNV W103R 0.085 0.073 0.082 30 100 28 0.077 24 1 0 0 0 0.002 41707 chr2 131673249 131673249 A T rs35337771 ARHGEF4 Nonsynonymous SNV N577I 0.082 0.06 0.061 39 96 23 0.1 18 1 0 1 4 4.267 41708 chr5 115336862 115336862 T C rs7712021 LVRN Synonymous SNV N582N 0.338 0.346 0.313 124 397 133 0.318 92 69 24 9 20 3.884 41709 chr12 113534633 113534633 C T rs61758447 DTX1 Synonymous SNV T584T 0.012 0.034 0.014 9 14 13 0.023 4 0 0 0 0 19.01 41710 chr12 113872007 113872007 G A rs145622738 SDSL Synonymous SNV P141P 0.001 0.01 0.007 2 1 4 0.005 2 0 0 0 0 8.304 41711 chr5 115822489 115822489 G A rs201133760 SEMA6A Synonymous SNV N306N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 41712 chr2 137928320 137928320 C T rs61746979 THSD7B Nonsynonymous SNV T512M 0.021 0.018 0.037 15 25 7 0.038 11 1 0 0 1 17.56 41713 chr5 118552667 118552667 G A rs76342985 DMXL1 Synonymous SNV A2472A 0.027 0.023 0.048 9 32 9 0.023 14 1 0 0 0 14.38 41714 chr2 160604379 160604379 C T rs16844275 MARCHF7 Nonsynonymous SNV T137I 0.025 0.01 0.024 5 29 4 0.013 7 0 0 0 0 25.6 41715 chr5 121355961 121355961 G A rs55708726 SRFBP1 Synonymous SNV A177A 0.141 0.169 0.15 70 166 65 0.179 44 12 5 6 5 8.195 41716 chr5 1213631 1213631 C G rs372335743 SLC6A19 Nonsynonymous SNV I239M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 41717 chr2 141108531 141108531 G A rs16843826 LRP1B Synonymous SNV G3909G 0.041 0.021 0.031 17 48 8 0.044 9 0 0 0 0 10.57 41718 chr12 49950251 49950251 C G rs113209368 KCNH3 Nonsynonymous SNV P796R 0.069 0.068 0.034 25 81 26 0.064 10 2 3 0 0 20.6 41719 chr2 160604768 160604768 G A rs141659304 MARCHF7 Nonsynonymous SNV A267T 0.021 0.01 0.017 5 25 4 0.013 5 0 0 0 0 6.058 41720 chr2 141130695 141130695 C T rs16843864 LRP1B Synonymous SNV E3550E 0.125 0.115 0.143 44 147 44 0.113 42 14 3 2 5 7.644 41721 chr5 121413208 121413208 C T rs1800449 LOX Nonsynonymous SNV R158Q 0.194 0.211 0.167 77 228 81 0.197 49 25 9 7 7 Benign 12.19 41722 chr12 49951528 49951528 C T rs144397719 KCNH3 Nonsynonymous SNV P955L 0.018 0.023 0.003 9 21 9 0.023 1 1 0 0 0 23.3 41723 chr5 121488506 121488506 C G rs35262183 ZNF474 Nonsynonymous SNV S274C 0.239 0.263 0.327 115 280 101 0.295 96 24 14 17 15 9.713 41724 chr2 141773397 141773397 C A rs78806080 LRP1B Synonymous SNV R686R 0.106 0.104 0.099 32 125 40 0.082 29 10 4 3 2 12.54 41725 chr12 118105334 118105334 G A rs375986629 KSR2 Synonymous SNV H372H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 41726 chr5 1225676 1225676 C T rs33978774 SLC6A18 Synonymous SNV L28L 0.13 0.104 0.129 31 153 40 0.079 38 10 2 1 1 8.255 41727 chr2 1418210 1418210 G A rs28909989 TPO Synonymous SNV T10T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.063 41728 chr12 118506328 118506330 TCC - rs67582641 VSIG10 E474del 0.019 0.018 0.014 8 22 7 0.021 4 0 0 0 0 41729 chr2 160879259 160879259 C T rs33985939 PLA2R1 Nonsynonymous SNV R404H 0.037 0.057 0.054 14 44 22 0.036 16 2 2 2 0 10.66 41730 chr2 109463204 109463204 T C rs144608296 CCDC138 Nonsynonymous SNV M401T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23 41731 chr22 45221423 45221423 A T rs3209476 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV P182P 0.163 0.182 0.19 72 191 70 0.185 56 21 7 7 4 1.769 41732 chr12 50393456 50393456 C T rs141502776 RACGAP1 Nonsynonymous SNV E173K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.3 41733 chr2 120012412 120012412 C T rs41279770 STEAP3 Synonymous SNV F391F 0.075 0.07 0.112 34 88 27 0.087 33 5 0 3 4 9.159 41734 chr2 135883780 135883780 A C rs753193395 RAB3GAP1 Nonsynonymous SNV H287P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.4 41735 chr2 120015164 120015164 A G rs111712266 STEAP3 Synonymous SNV S439S 0.081 0.078 0.126 38 95 30 0.097 37 8 0 3 5 3.598 41736 chr2 149799216 149799216 T C rs61734995 KIF5C Synonymous SNV P177P 0.129 0.135 0.136 54 151 52 0.138 40 9 3 1 4 Benign 0.024 41737 chr2 149806388 149806388 C T rs60169973 KIF5C Synonymous SNV D250D 0.114 0.122 0.112 47 134 47 0.121 33 8 3 1 4 Benign 12.67 41738 chr22 41635562 41635562 G A rs896236871 CHADL Nonsynonymous SNV P24L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.37 41739 chr5 1255520 1255520 G A rs33954691 TERT Synonymous SNV H950H 0.118 0.07 0.085 43 138 27 0.11 25 11 1 2 0 Benign 2.969 41740 chr2 135965376 135965376 T C rs7578111 ZRANB3 Synonymous SNV P877P 0.218 0.214 0.224 85 256 82 0.218 66 25 9 8 9 6.403 41741 chr2 11053113 11053113 C G rs141118481 KCNF1 Synonymous SNV L187L 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 5.788 41742 chr2 135976740 135976740 T C rs16831460 ZRANB3 Synonymous SNV K751K 0.039 0.023 0.027 12 46 9 0.031 8 0 0 0 1 0.421 41743 chr2 135988127 135988127 T A rs59900519 ZRANB3 Nonsynonymous SNV E637V 0.217 0.214 0.218 84 255 82 0.215 64 25 9 7 9 7.799 41744 chr22 30689998 30689998 G A rs11089442 TBC1D10A Synonymous SNV L276L 0.17 0.221 0.194 82 200 85 0.21 57 14 7 2 5 10.3 41745 chr2 135988416 135988416 C T rs935615 ZRANB3 Nonsynonymous SNV E541K 0.217 0.214 0.218 84 255 82 0.215 64 25 9 7 9 18.82 41746 chr22 41735013 41735013 G A rs774447472 ZC3H7B Nonsynonymous SNV V212M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.74 41747 chr5 127597518 127597518 G A rs10070365 FBN2 Synonymous SNV S2758S 0.08 0.099 0.146 39 94 38 0.1 43 4 3 4 1 Benign 9.676 41748 chr2 136499458 136499458 G A rs111798914 LOC107985946 0.037 0.031 0.054 19 43 12 0.049 16 0 0 0 1 9.376 41749 chr22 30782731 30782731 G A rs12171261 RNF215 Synonymous SNV A101A 0.192 0.229 0.177 85 225 88 0.218 52 17 8 3 4 12.91 41750 chr5 127622476 127622476 T A rs201220519 FBN2 Nonsynonymous SNV I2316F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 41751 chr5 127873094 127873094 G A rs62390671 FBN2 Nonsynonymous SNV A68V 0.034 0.055 0.027 18 40 21 0.046 8 2 2 0 1 Benign/Likely benign 15.39 41752 chr12 120650421 120650421 C T rs79483820 PXN-AS1 0.01 0.01 0.01 3 12 4 0.008 3 0 0 0 0 0.905 41753 chr5 127873114 127873114 G C rs73348287 FBN2 Synonymous SNV P61P 0.089 0.091 0.102 26 104 35 0.067 30 5 2 5 0 Benign 6.345 41754 chr22 30857398 30857398 C T rs199762461 SEC14L3 Nonsynonymous SNV R327Q 0.013 0.01 0 3 15 4 0.008 0 0 0 0 0 24 41755 chr2 152320570 152320570 G A rs142724873 RIF1 Synonymous SNV K1512K 0.006 0.008 0.014 7 7 3 0.018 4 0 0 0 0 1.547 41756 chr5 127873186 127873186 C T rs55715053 FBN2 Synonymous SNV P37P 0.089 0.091 0.102 25 105 35 0.064 30 5 2 5 0 Benign 19.7 41757 chr2 136574968 136574968 G C rs35093754 LCT Synonymous SNV G550G 0.04 0.036 0.051 17 47 14 0.044 15 0 0 0 1 Likely benign 0.136 41758 chr22 46655344 46655344 G A rs34287403 PKDREJ Synonymous SNV D1292D 0.021 0.021 0.048 8 25 8 0.021 14 0 0 1 0 11.1 41759 chr22 46674531 46674531 C T rs763939307 TTC38 Synonymous SNV Y196Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.73 41760 chr5 128430757 128430757 T C rs1127827 ISOC1 Synonymous SNV L100L 0.53 0.526 0.551 184 622 202 0.472 162 163 52 49 43 6.169 41761 chr2 136587238 136587238 G C rs3816088 LCT Synonymous SNV V243V 0.041 0.036 0.051 17 48 14 0.044 15 0 0 0 1 Likely benign 0.486 41762 chr2 113300002 113300026 TCCGGCGTGTACCGAGAGACTGGCG - rs138896228 POLR1B Y27Qfs*20 0.07 0.044 0.054 24 82 17 0.062 16 2 2 0 0 41763 chr5 128797105 128797105 G A rs72663400 ADAMTS19 Synonymous SNV G134G 0.074 0.096 0.122 43 87 37 0.11 36 6 3 2 5 11.94 41764 chr12 121000846 121000846 G A rs61760870 RNF10 Synonymous SNV A409A 0.03 0.036 0.027 10 35 14 0.026 8 0 0 0 0 14.89 41765 chr5 128797156 128797156 C G rs182638734 ADAMTS19 Synonymous SNV P151P 0.094 0.115 0.139 51 110 44 0.131 41 6 3 3 6 7.872 41766 chr5 128797315 128797315 - CCCGGC rs142924298 ADAMTS19 P209_T210insGP 0.098 0.117 0.15 52 115 45 0.133 44 5 3 2 5 41767 chr5 129040056 129040056 A T rs11749126 ADAMTS19 Nonsynonymous SNV Y1095F 0.144 0.172 0.129 49 169 66 0.126 38 11 8 3 4 19.45 41768 chr22 46777892 46777892 C T rs35385606 CELSR1 Synonymous SNV P2313P 0.047 0.057 0.024 11 55 22 0.028 7 0 0 0 1 10.61 41769 chr22 42606905 42606905 T C rs140619869 TCF20 Synonymous SNV S1469S 0.01 0.013 0.007 2 12 5 0.005 2 0 0 0 0 Benign 0.116 41770 chr22 46782382 46782382 C T rs34267201 CELSR1 Nonsynonymous SNV R2219H 0.056 0.07 0.041 18 66 27 0.046 12 0 0 0 1 0.278 41771 chr2 122038783 122038783 G A rs36096257 TFCP2L1 Nonsynonymous SNV R43C 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 Benign 33 41772 chr5 131214741 131214741 T C rs142637902 MEIKIN Nonsynonymous SNV D235G 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 12.04 41773 chr2 141457985 141457985 T A rs13431727 LRP1B Synonymous SNV P2211P 0.134 0.109 0.146 47 157 42 0.121 43 8 3 4 2 9.009 41774 chr5 131396478 131396478 C T rs40401 IL3 Nonsynonymous SNV P27S 0.186 0.172 0.211 80 218 66 0.205 62 17 10 9 7 0.28 41775 chr5 131411460 131411460 T C rs25882 CSF2 Nonsynonymous SNV I117T 0.171 0.167 0.19 83 201 64 0.213 56 18 4 8 8 3.341 41776 chr22 46794475 46794475 T C rs45604542 CELSR1 Synonymous SNV G1824G 0.053 0.063 0.031 17 62 24 0.044 9 0 0 0 1 0.088 41777 chr2 152534260 152534260 T C rs146616621 NEB Nonsynonymous SNV N1198S 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.018 41778 chr5 131607080 131607080 A G rs270619 PDLIM4 Synonymous SNV P197P 0.084 0.104 0.112 40 99 40 0.103 33 1 0 1 2 0.064 41779 chr5 131607588 131607588 G T rs4877 PDLIM4 Nonsynonymous SNV G259C 0.058 0.07 0.099 31 68 27 0.079 29 1 0 1 1 24 41780 chr2 128388437 128388437 A C rs138651379 MYO7B Nonsynonymous SNV K1605Q 0.035 0.018 0.034 11 41 7 0.028 10 0 0 0 0 0.009 41781 chr2 152695783 152695783 C T rs1805029 CACNB4 Synonymous SNV R374R 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Benign/Likely benign 12.32 41782 chr2 128459473 128459473 C A rs147371476 SFT2D3 Nonsynonymous SNV A124E 0.042 0.065 0.051 18 49 25 0.046 15 1 1 1 0 27 41783 chr2 168931636 168931636 C T rs56031549 STK39 Nonsynonymous SNV A399T 0.023 0.026 0.017 5 27 10 0.013 5 0 0 0 0 23.9 41784 chr2 113676381 113676381 G A rs2723192 IL37 Nonsynonymous SNV D157N 0.076 0.068 0.082 30 89 26 0.077 24 1 0 0 0 23.7 41785 chr2 153575962 153575962 T C rs13006652 ARL6IP6 Synonymous SNV L22L 0.181 0.159 0 73 213 61 0.187 0 22 2 0 6 3.185 41786 chr22 47116905 47116905 G A rs12166204 CERK Synonymous SNV C50C 0.068 0.107 0.065 23 80 41 0.059 19 0 1 0 0 8.192 41787 chr5 131701279 131701279 T C rs367805 MIR3936 0 0 0.619 0 0 0 0 182 0 0 59 0 1.035 41788 chr2 169721381 169721381 A G rs3931 NOSTRIN Synonymous SNV G446G 0.325 0.318 0.303 118 382 122 0.303 89 60 24 14 15 11.05 41789 chr2 113831945 113831945 T C rs3811058 IL1F10 Synonymous SNV D24D 0.106 0.107 0.112 25 124 41 0.064 33 10 2 1 0 0.007 41790 chr2 129076016 129076016 C G rs201154532 HS6ST1 Nonsynonymous SNV S41T 0.034 0.049 0.041 15 40 19 0.038 12 2 0 0 0 16.47 41791 chr5 132149322 132149322 - GCCGCCGCC rs566990199 SOWAHA A12_G13insAAA 0.032 0.042 0.228 28 38 16 0.072 67 14 7 15 9 41792 chr12 121660813 121660813 G A rs1042380632 P2RX4 Stop gain W164X 0 0 0 0 0 0 0 0 0 0 0 0 38 41793 chr2 169996070 169996070 C T rs41268685 LRP2 Nonsynonymous SNV G4417D 0.023 0.031 0.017 9 27 12 0.023 5 0 0 0 1 Benign 23 41794 chr12 121666646 121666646 A G rs25644 P2RX4 Nonsynonymous SNV S215G 0.089 0.117 0.109 40 105 45 0.103 32 1 3 1 3 20.8 41795 chr12 121678328 121678328 T - rs761569371 CAMKK2 G539Dfs*5 0.007 0.008 0.01 5 8 3 0.013 3 0 0 0 0 41796 chr22 50312548 50312548 - TTC rs535581871 CRELD2 0.038 0.052 0.01 12 45 20 0.031 3 1 1 0 1 41797 chr12 121691096 121691096 G A rs1132780 CAMKK2 Nonsynonymous SNV R363C 0.113 0.135 0.133 42 133 52 0.108 39 3 3 1 3 23.2 41798 chr5 132198100 132198100 C T rs10491279 GDF9 Synonymous SNV E182E 0.151 0.174 0.143 75 177 67 0.192 42 16 6 7 5 Benign 5.99 41799 chr5 132535046 132535046 G A rs3749817 FSTL4 Nonsynonymous SNV T757M 0.241 0.25 0.211 91 283 96 0.233 62 33 14 3 14 0.014 41800 chr5 133901939 133901939 G T rs115315395 JADE2 Nonsynonymous SNV G368V 0.016 0.021 0.014 15 19 8 0.038 4 0 0 0 0 16.99 41801 chr2 114674559 114674559 A G rs763378050 ACTR3 Nonsynonymous SNV I16V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.39 41802 chr5 134986006 134986006 G A rs801560 SLC25A48-AS1 0 0 0.782 0 0 0 0 230 0 0 89 0 5.282 41803 chr5 134986196 134986196 C T rs10045717 SLC25A48-AS1 0 0 0.486 0 0 0 0 143 0 0 34 0 0.875 41804 chr2 159672322 159672322 C T rs138143887 DAPL1 Stop gain R105X 0.006 0.021 0.003 5 7 8 0.013 1 0 0 0 0 48 41805 chr2 133540605 133540605 G T rs13016342 NCKAP5 Nonsynonymous SNV P1260Q 0.223 0.25 0.218 83 262 96 0.213 64 23 13 10 8 25.4 41806 chr2 152311612 152311612 A G rs61750444 RIF1 Nonsynonymous SNV M850V 0.026 0.016 0.024 10 30 6 0.026 7 0 0 0 1 0.355 41807 chr22 50523154 50523154 C A MLC1 0.01 0.018 0 1 12 7 0.003 0 0 0 0 0 Uncertain significance 28.3 41808 chr2 160092703 160092703 - A rs548179925 WDSUB1 0.049 0.057 0.044 20 57 22 0.051 13 3 1 0 1 41809 chr2 160104896 160104896 C A rs73004952 WDSUB1 Synonymous SNV P297P 0.056 0.065 0.044 20 66 25 0.051 13 5 0 0 0 17.18 41810 chr5 135469527 135469527 T G rs3764941 SMAD5-AS1 0 0 0.299 0 0 0 0 88 0 0 13 0 4.956 41811 chr5 135527905 135527905 A G rs2287963 SMIM32 Nonsynonymous SNV V103A 0 0 0.221 0 0 0 0 65 0 0 9 0 16.07 41812 chr12 52711747 52711747 C A rs146753414 KRT83 Stop gain E201X 0.021 0.034 0.037 6 25 13 0.015 11 0 0 1 0 Benign/Likely benign 39 41813 chr2 170762566 170762566 A T rs10194785 UBR3 Synonymous SNV L557L 0.15 0.156 0.17 68 176 60 0.174 50 12 5 4 8 1.475 41814 chr12 122372176 122372176 C T rs78614343 WDR66 Synonymous SNV C304C 0.035 0.034 0.02 9 41 13 0.023 6 1 0 0 0 11.9 41815 chr2 170917648 170917648 A G rs10203212 UBR3 Synonymous SNV L1615L 0.217 0.208 0.228 85 255 80 0.218 67 28 13 11 10 7.233 41816 chr12 122372183 122372183 G A rs77540055 WDR66 Nonsynonymous SNV V307I 0.035 0.034 0.017 9 41 13 0.023 5 1 0 0 0 Benign 4.247 41817 chr2 160132089 160132089 T G rs16843852 WDSUB1 Nonsynonymous SNV K46T 0.049 0.055 0.054 14 57 21 0.036 16 6 1 1 0 28.2 41818 chr12 122386948 122386948 G A rs78910014 WDR66 Nonsynonymous SNV R417Q 0.034 0.034 0.017 9 40 13 0.023 5 1 0 0 0 Benign 9.262 41819 chr2 152382759 152382759 T C rs61730765 NEB Synonymous SNV K5620K 0.026 0.016 0.024 10 30 6 0.026 7 0 0 0 1 Benign 1.384 41820 chr2 160139277 160139277 C A WDSUB1 Nonsynonymous SNV V102F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 26.7 41821 chr12 52799923 52799923 G A rs148453926 KRT82 Stop gain R47X 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 36 41822 chr2 152389991 152389991 A G rs114218081 NEB Synonymous SNV L7128L 0.026 0.016 0.024 10 30 6 0.026 7 0 0 0 1 Benign 8.205 41823 chr5 137372207 137372207 A T rs6596419 LOC100130172 0 0 0.993 0 0 0 0 292 0 0 145 0 0.626 41824 chr12 122468687 122468687 C T rs2272132 BCL7A Synonymous SNV D58D 0.038 0.034 0.017 11 45 13 0.028 5 1 0 0 0 5.548 41825 chr5 137426447 137426447 G A rs6596422 WNT8A Synonymous SNV A265A 0.551 0.531 0.524 227 647 204 0.582 154 166 59 44 74 9.147 41826 chr2 133542585 133542585 C G rs17325719 NCKAP5 Nonsynonymous SNV S600T 0.217 0.234 0.197 76 255 90 0.195 58 20 11 10 5 24.4 41827 chr2 160206574 160206574 C T rs143966878 BAZ2B Nonsynonymous SNV S1467N 0.023 0.018 0.007 3 27 7 0.008 2 2 0 0 0 Benign 11.99 41828 chr5 137486640 137486640 A T rs79552163 BRD8 Nonsynonymous SNV C972S 0.037 0.07 0.034 7 43 27 0.018 10 1 2 0 0 8.942 41829 chr22 36597744 36597744 A C rs9610445 APOL4 0.11 0.107 0.075 46 129 41 0.118 22 8 3 1 6 0.28 41830 chr5 137500665 137500665 G A rs11750814 BRD8 Nonsynonymous SNV T449M 0.119 0.133 0.139 45 140 51 0.115 41 7 6 2 3 23.7 41831 chr5 13762972 13762972 T C rs6554812 DNAH5 Synonymous SNV E3380E 0.261 0.211 0.252 79 307 81 0.203 74 40 13 12 10 Benign 5.916 41832 chr5 137733891 137733891 A G rs17294563 KDM3B Synonymous SNV V952V 0.129 0.143 0.143 58 151 55 0.149 42 14 5 2 4 9.661 41833 chr12 122825835 122825835 T G rs747395822 CLIP1 Nonsynonymous SNV E593A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 41834 chr22 50722167 50722167 T C rs28470336 PLXNB2 Nonsynonymous SNV T812A 0.038 0.049 0.061 19 45 19 0.049 18 1 0 0 2 12.13 41835 chr2 160729005 160729005 C T rs1397706 LY75, LY75-CD302 Nonsynonymous SNV D692N 0.049 0.057 0.054 27 57 22 0.069 16 1 0 0 0 6.168 41836 chr2 172016846 172016846 - GCC rs773933197 TLK1 A31_R32insA 0.002 0 0 0 2 0 0 0 0 0 0 0 41837 chr2 172216969 172216969 T C rs3731986 METTL8 Synonymous SNV K21K 0.304 0.331 0.357 140 357 127 0.359 105 57 19 22 24 0.351 41838 chr22 46685375 46685375 G A rs56340734 TTC38 Nonsynonymous SNV E387K 0.014 0.013 0.003 7 16 5 0.018 1 0 0 0 0 10.85 41839 chr22 37407194 37407194 G A rs4764 TST Synonymous SNV H256H 0.062 0.068 0.048 32 73 26 0.082 14 4 2 0 3 2.246 41840 chr2 160746800 160746800 T C rs34592866 LY75, LY75-CD302 Synonymous SNV E242E 0.046 0.052 0.041 25 54 20 0.064 12 2 0 0 0 4.731 41841 chr2 136562454 136562454 A G rs17699796 LCT Synonymous SNV F1449F 0.034 0.018 0.024 15 40 7 0.038 7 2 0 0 0 Conflicting interpretations of pathogenicity 3.39 41842 chr5 13882841 13882841 A G rs10057007 DNAH5 Synonymous SNV L1086L 0.232 0.227 0.259 96 272 87 0.246 76 35 11 11 8 Benign 7.682 41843 chr5 138852369 138852369 G A rs13153461 SMIM33 Nonsynonymous SNV G88S 0 0 0.728 0 0 0 0 214 0 0 80 0 24.8 41844 chr2 15372562 15372562 C T rs6710817 NBAS Nonsynonymous SNV A2074T 0.108 0.12 0.082 39 127 46 0.1 24 7 4 1 1 18.05 41845 chr12 123214481 123214481 C A rs201612647 HCAR1 Nonsynonymous SNV V136F 0 0 0 0 0 0 0 0 0 0 0 0 22.8 41846 chr12 52962167 52962167 T C rs143856828 KRT74 Nonsynonymous SNV S381G 0.037 0.044 0.027 21 44 17 0.054 8 1 0 0 0 10.65 41847 chr22 50901320 50901320 A T rs180800708 SBF1 Synonymous SNV P650P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 0.557 41848 chr12 123341036 123341036 C T rs778175176 HIP1R Nonsynonymous SNV R487W 0 0 0 0 0 0 0 0 0 0 0 0 35 41849 chr22 46762376 46762376 C T CELSR1 Nonsynonymous SNV R2736H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 41850 chr2 137814138 137814138 T C rs60939389 THSD7B Synonymous SNV V96V 0.18 0.167 0.167 74 211 64 0.19 49 17 5 5 8 1.942 41851 chr2 163123842 163123842 G A rs74162089 IFIH1 Synonymous SNV L982L 0.008 0.018 0.01 6 9 7 0.015 3 1 0 0 0 Benign 8.876 41852 chr5 13894894 13894894 T A rs4701997 DNAH5 Nonsynonymous SNV I766L 0.505 0.49 0.548 206 593 188 0.528 161 149 45 39 57 Benign 16.2 41853 chr5 139060486 139060486 G A rs356445 CXXC5 Synonymous SNV A126A 0.075 0.039 0.051 27 88 15 0.069 15 3 0 1 0 5.15 41854 chr5 139722345 139722345 G A rs2074611 HBEGF Synonymous SNV H91H 0.079 0.06 0.085 26 93 23 0.067 25 4 1 1 2 8.022 41855 chr5 139740007 139740007 G A rs76682386 SLC4A9 Synonymous SNV E62E 0.024 0.013 0.037 14 28 5 0.036 11 0 0 0 0 8.596 41856 chr2 165381542 165381542 C A rs34570870 GRB14 Nonsynonymous SNV G130V 0.004 0.003 0.027 1 5 1 0.003 8 1 0 0 0 25.4 41857 chr2 158140806 158140806 G C rs6759356 GALNT5 Nonsynonymous SNV Q489H 0.016 0.023 0.02 5 19 9 0.013 6 0 1 2 0 23.6 41858 chr2 127821207 127821207 G A rs1137845 BIN1 Synonymous SNV Y207Y 0.036 0.039 0.068 16 42 15 0.041 20 1 0 0 1 Benign 6.099 41859 chr5 140048209 140048209 T C rs2251860 WDR55 Synonymous SNV N131N 0.399 0.378 0.381 144 469 145 0.369 112 72 28 20 25 0.044 41860 chr2 144008169 144008169 G A ARHGAP15 Synonymous SNV Q158Q 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.83 41861 chr5 140181648 140181648 T C rs3733709 PCDHA3 Nonsynonymous SNV I289T 0.085 0.081 0.095 26 100 31 0.067 28 1 2 1 0 0.391 41862 chr2 166032776 166032778 ATT - rs72471101 SCN3A N43del 0.079 0.091 0.112 31 93 35 0.079 33 3 1 0 1 41863 chr5 140236950 140236950 C G rs251362 PCDHA10 Nonsynonymous SNV S439R 0.524 0.479 0.493 193 615 184 0.495 145 184 56 46 55 18.83 41864 chr22 51021258 51021258 C A rs41282357 CHKB-CPT1B 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 41865 chr5 140237109 140237109 T G rs251363 PCDHA10 Synonymous SNV S492S 0.618 0.576 0.602 240 726 221 0.615 177 241 74 61 81 1.077 41866 chr5 140237387 140237387 T G rs251364 PCDHA10 Nonsynonymous SNV V585G 0.618 0.576 0.599 240 726 221 0.615 176 241 74 61 81 0.001 41867 chr12 124409693 124409693 C T rs144421774 DNAH10 Nonsynonymous SNV R3837C 0.009 0.01 0.007 0 11 4 0 2 0 0 0 0 35 41868 chr2 128379563 128379563 C G rs61744148 MYO7B Nonsynonymous SNV L1152V 0.143 0.159 0.136 60 168 61 0.154 40 14 6 4 3 21.9 41869 chr5 140237548 140237548 A G rs630162 PCDHA10 Nonsynonymous SNV T639A 0.618 0.576 0.609 240 725 221 0.615 179 240 74 62 81 0.001 41870 chr2 160028733 160028733 G A rs143763614 TANC1 Nonsynonymous SNV A284T 0.005 0 0 0 6 0 0 0 0 0 0 0 13.61 41871 chr5 140250252 140250252 T C rs251372 PCDHA11 Synonymous SNV L522L 0.477 0.435 0.463 176 560 167 0.451 136 129 38 38 39 0.025 41872 chr5 140255271 140255271 G C rs17844351 PCDHA12 Nonsynonymous SNV G72R 0.056 0.021 0.041 17 66 8 0.044 12 2 0 0 0 0.447 41873 chr12 53086339 53086339 - CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTG KRT77 Stop gain E432Tfs*19 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 41874 chr2 128388859 128388859 C T rs567209745 MYO7B Synonymous SNV C1646C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.993 41875 chr2 128393336 128393336 C T rs200149655 MYO7B Nonsynonymous SNV R1928W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 41876 chr5 140255792 140255792 C A rs251377 PCDHA12 Synonymous SNV P245P 0.48 0.432 0.469 175 563 166 0.449 138 132 38 38 39 5.001 41877 chr5 140474756 140474756 G A rs31853 PCDHB2 Nonsynonymous SNV V128I 0.071 0.094 0.051 29 83 36 0.074 15 2 3 1 1 0.004 41878 chr2 179404498 179404498 G C rs72648273 TTN Nonsynonymous SNV A23700G 0.007 0.018 0.007 4 8 7 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 41879 chr5 140480355 140480355 A G rs31849 PCDHB3 Nonsynonymous SNV K41R 0.071 0.094 0.051 29 83 36 0.074 15 2 3 1 1 0.01 41880 chr5 140480578 140480578 A G rs17844387 PCDHB3 Synonymous SNV Q115Q 0.071 0.094 0.051 28 83 36 0.072 15 2 3 1 1 6.408 41881 chr5 140530718 140530718 G T rs35620136 PCDHB6 Nonsynonymous SNV A294S 0.057 0.073 0.034 29 67 28 0.074 10 2 0 1 3 0.06 41882 chr2 179454530 179454530 C T rs199895260 TTN Nonsynonymous SNV R11576Q 0.008 0.018 0.003 2 9 7 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 41883 chr5 140563158 140563158 G C rs61742261 PCDHB16 Nonsynonymous SNV D342H 0.007 0.008 0.014 0 8 3 0 4 0 0 0 0 25.3 41884 chr22 50470516 50470516 C T rs11101958 TTLL8 Nonsynonymous SNV A452T 0.169 0.193 0.187 88 198 74 0.226 55 14 9 6 7 24.4 41885 chr5 140572763 140572763 C G rs2907323 PCDHB10 Nonsynonymous SNV T213R 0.159 0.161 0.099 68 187 62 0.174 29 13 4 1 9 25.2 41886 chr2 179545033 179545033 G A rs878915517 TTN Synonymous SNV V9878V 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.42 41887 chr2 160261387 160261387 T C rs11551108 BAZ2B Synonymous SNV K899K 0.029 0.023 0.024 6 34 9 0.015 7 0 0 0 0 3.726 41888 chr5 140572841 140572841 C T rs61744157 PCDHB10 Nonsynonymous SNV A239V 0.007 0.008 0.014 0 8 3 0 4 0 0 0 0 19.2 41889 chr2 152348915 152348915 G A rs200804762 NEB Nonsynonymous SNV R6431W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 35 41890 chr5 140614203 140614203 T C rs2910001 PCDHB18P 0 0 0.136 0 0 0 0 40 0 0 2 0 1.785 41891 chr2 179569387 179569387 T A rs72650006 TTN Nonsynonymous SNV T8694S 0.017 0.039 0.037 4 20 15 0.01 11 1 0 0 0 Benign/Likely benign 19 41892 chr5 140614830 140614830 G A rs2907308 PCDHB18P 0 0 0.139 0 0 0 0 41 0 0 2 0 2.664 41893 chr5 140615221 140615221 C T rs2910000 PCDHB18P 0 0 0.139 0 0 0 0 41 0 0 2 0 9.743 41894 chr5 140625207 140625207 C T rs35154204 PCDHB15 Synonymous SNV L21L 0.057 0.073 0.031 29 67 28 0.074 9 2 0 1 3 7.958 41895 chr22 50537901 50537901 C T rs12169319 MOV10L1 Synonymous SNV D104D 0.041 0.065 0.061 18 48 25 0.046 18 0 4 1 0 9.889 41896 chr5 140682958 140682958 C A rs10075302 SLC25A2 Nonsynonymous SNV G159C 0.063 0.068 0.031 31 74 26 0.079 9 3 0 1 1 22.8 41897 chr2 100938205 100938205 G A rs184118488 LONRF2 Synonymous SNV N117N 0.02 0.01 0.014 15 23 4 0.038 4 6 1 1 4 10.1 41898 chr12 53223828 53223828 G A rs148898674 KRT79 Synonymous SNV F278F 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 12.3 41899 chr22 38483174 38483174 - CATGGAGGT rs200930717 BAIAP2L2 M405_S406insTSM 0.066 0.104 0.082 29 77 40 0.074 24 6 2 1 1 41900 chr2 160692082 160692082 G A rs12468507 LY75, LY75-CD302 Synonymous SNV L1194L 0.007 0 0.007 6 8 0 0.015 2 0 0 0 0 13.42 41901 chr5 140710494 140710494 T C rs754033236 PCDHGA1 Synonymous SNV S81S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.255 41902 chr2 160697305 160697305 C A rs34702313 LY75, LY75-CD302 Nonsynonymous SNV A1148S 0.007 0 0.007 6 8 0 0.015 2 0 0 0 0 23.8 41903 chr2 179610967 179610967 C T rs72648913 TTN Nonsynonymous SNV C5387Y 0.009 0.018 0.007 3 10 7 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.66 41904 chr5 140710810 140710810 G A rs76571170 PCDHGA1 Nonsynonymous SNV D187N 0.062 0.065 0.027 32 73 25 0.082 8 3 0 1 1 16.35 41905 chr2 160697447 160697447 C T rs36090480 LY75, LY75-CD302 Synonymous SNV T1100T 0.007 0 0.007 6 8 0 0.015 2 0 0 0 0 12.39 41906 chr5 140712210 140712210 G T rs62378403 PCDHGA1 Synonymous SNV P653P 0.126 0.138 0.082 64 148 53 0.164 24 1 2 2 1 9.199 41907 chr22 39411737 39411737 C T rs201799439 APOBEC3C Nonsynonymous SNV T52M 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 22.5 41908 chr2 160714906 160714906 T C rs116003141 LY75, LY75-CD302 Nonsynonymous SNV T784A 0.007 0 0.003 6 8 0 0.015 1 0 0 0 0 0.993 41909 chr5 140725618 140725618 C A PCDHGA3 Nonsynonymous SNV A673D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 41910 chr22 39482371 39482371 C G rs17496046 APOBEC3G Nonsynonymous SNV Q208E 0.043 0.044 0.048 9 50 17 0.023 14 0 0 0 0 11.55 41911 chr2 160721357 160721357 C T rs78088512 LY75, LY75-CD302 Nonsynonymous SNV R731H 0.007 0 0.003 6 8 0 0.015 1 0 0 0 0 13.44 41912 chr5 140731022 140731022 A G rs77250251 PCDHGB1 Nonsynonymous SNV K399E 0.031 0.044 0.044 21 36 17 0.054 13 0 1 1 1 18.12 41913 chr2 170060603 170060603 T C rs17848169 LRP2 Nonsynonymous SNV N2632D 0.029 0.031 0.027 8 34 12 0.021 8 0 0 0 0 Benign 0.307 41914 chr2 160737621 160737621 C T rs11675155 LY75, LY75-CD302 Synonymous SNV T459T 0.176 0.133 0.156 76 207 51 0.195 46 15 4 5 8 18.01 41915 chr5 140731357 140731357 G T rs3749778 PCDHGB1 Synonymous SNV V510V 0.053 0.068 0.027 31 62 26 0.079 8 1 0 0 2 4.853 41916 chr2 160738677 160738677 G A rs16822581 LY75, LY75-CD302 Synonymous SNV L402L 0.177 0.133 0.16 76 208 51 0.195 47 15 4 5 8 5.442 41917 chr2 170062078 170062078 G C rs13397109 LRP2 Synonymous SNV R2542R 0.042 0.047 0.058 21 49 18 0.054 17 0 2 1 1 Benign 9.831 41918 chr2 170062977 170062977 T C rs61995915 LRP2 Nonsynonymous SNV E2418G 0.01 0.003 0.01 2 12 1 0.005 3 0 0 0 0 Benign 0.016 41919 chr5 140736689 140736689 G A rs4329068 PCDHGA4 Nonsynonymous SNV R672K 0.053 0.068 0.031 31 62 26 0.079 9 1 0 1 2 0.079 41920 chr2 135781035 135781035 C T rs16831256 MAP3K19 Nonsynonymous SNV R22Q 0.179 0.19 0.19 72 210 73 0.185 56 19 7 6 7 3.46 41921 chr2 135884166 135884166 A G rs116775947 RAB3GAP1 Nonsynonymous SNV I305V 0.016 0.021 0.037 7 19 8 0.018 11 0 0 0 0 Benign 6.164 41922 chr5 140767991 140767991 G A rs77505166 PCDHGB4 Synonymous SNV L180L 0.053 0.068 0.031 31 62 26 0.079 9 1 0 0 2 0.785 41923 chr5 140769289 140769289 G C rs141134077 PCDHGB4 Nonsynonymous SNV G613A 0.014 0.026 0.014 17 16 10 0.044 4 0 0 0 2 23.4 41924 chr2 102003633 102003633 G T rs11554173 CREG2 Nonsynonymous SNV P96Q 0.057 0.057 0.068 26 67 22 0.067 20 9 2 1 3 9.564 41925 chr2 135988186 135988186 G A rs58917764 ZRANB3 Synonymous SNV T617T 0.177 0.19 0.194 74 208 73 0.19 57 18 7 6 8 3.384 41926 chr2 170487429 170487429 A G rs141485021 PPIG Synonymous SNV K231K 0.013 0.01 0 10 15 4 0.026 0 0 0 0 0 0.092 41927 chr2 135988235 135988235 C T rs76333606 ZRANB3 Nonsynonymous SNV R601Q 0.034 0.042 0.058 14 40 16 0.036 17 0 1 0 1 0.4 41928 chr5 140779354 140779354 A C rs111395890 PCDHGB5 Nonsynonymous SNV N554H 0.053 0.068 0.031 31 62 26 0.079 9 1 0 0 2 12.26 41929 chr22 39826137 39826137 C T rs147601362 TAB1 Synonymous SNV D475D 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 12.03 41930 chr22 50682208 50682208 G A rs147321582 TUBGCP6 Synonymous SNV D227D 0.02 0.013 0.041 9 23 5 0.023 12 0 0 1 0 12.45 41931 chr2 170502415 170502415 T C rs114609276 CCDC173 Nonsynonymous SNV Y532C 0.057 0.055 0.051 29 67 21 0.074 15 2 1 0 1 11.36 41932 chr5 140784820 140784820 C T rs78501291 PCDHGA9 Synonymous SNV H767H 0.034 0.047 0.051 22 40 18 0.056 15 0 1 1 1 6.92 41933 chr22 40045685 40045685 G A rs56859827 CACNA1I Nonsynonymous SNV A548T 0.009 0.016 0.003 1 10 6 0.003 1 0 0 0 0 6.547 41934 chr2 170558076 170558076 C A rs147796452 PHOSPHO2 Synonymous SNV R199R 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 16.96 41935 chr5 140789819 140789819 C T rs3749768 PCDHGB6 Nonsynonymous SNV P684S 0.053 0.068 0.031 31 62 26 0.079 9 1 0 0 2 0.825 41936 chr2 102851671 102851671 C T rs34599745 IL1RL2 Nonsynonymous SNV P396S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 22.1 41937 chr22 50704028 50704028 C T rs33932986 MAPK11 Nonsynonymous SNV R275H 0.027 0.021 0.075 14 32 8 0.036 22 0 0 1 0 18.74 41938 chr2 179979930 179979930 T C rs2289993 SESTD1 Synonymous SNV Q567Q 0.175 0.169 0.207 58 205 65 0.149 61 18 4 8 3 0.057 41939 chr2 165578602 165578602 C T rs74459242 COBLL1 Nonsynonymous SNV V327M 0.023 0.013 0.024 11 27 5 0.028 7 0 0 0 0 24.6 41940 chr22 40075341 40075341 C T rs59504308 CACNA1I Nonsynonymous SNV P1727L 0.023 0.018 0.014 7 27 7 0.018 4 0 0 0 0 22.8 41941 chr5 140802456 140802456 G A rs62378455 PCDHGA11 Synonymous SNV L554L 0.034 0.047 0.051 22 40 18 0.056 15 0 1 1 1 0.074 41942 chr22 50869738 50869738 A G rs368219691 PPP6R2 Nonsynonymous SNV H421R 0.012 0.008 0 3 14 3 0.008 0 0 1 0 0 0.001 41943 chr12 53693085 53693085 C G rs775238540 PFDN5 Nonsynonymous SNV Q96E 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 21.3 41944 chr5 140802723 140802723 C T rs62378456 PCDHGA11 Synonymous SNV L643L 0.035 0.047 0.051 22 41 18 0.056 15 0 1 1 1 12.18 41945 chr22 40803041 40803041 G A rs150363308 SGSM3 Synonymous SNV Q339Q 0.014 0.016 0.003 5 17 6 0.013 1 0 0 0 0 Benign 9.761 41946 chr5 140806260 140806260 A C rs62378458 PCDHGB8P 0 0 0.051 0 0 0 0 15 0 0 1 0 2.057 41947 chr22 50882338 50882338 G A rs56269507 PPP6R2 Nonsynonymous SNV A849T 0.028 0.034 0.041 10 33 13 0.026 12 1 0 0 0 3.973 41948 chr5 140806300 140806300 G A rs62378459 PCDHGB8P 0 0 0.051 0 0 0 0 15 0 0 1 0 0.082 41949 chr5 140806619 140806619 C T rs79280874 PCDHGB8P 0 0 0.02 0 0 0 0 6 0 0 0 0 1.241 41950 chr2 179986553 179986553 T C rs56336305 SESTD1 Synonymous SNV K462K 0.023 0.026 0.031 6 27 10 0.015 9 0 1 0 0 1.291 41951 chr5 140807021 140807021 T C rs62379160 PCDHGB8P 0 0 0.051 0 0 0 0 15 0 0 1 0 0.041 41952 chr5 140807256 140807256 A C rs3749765 PCDHGB8P 0 0 0.099 0 0 0 0 29 0 0 4 0 0.251 41953 chr22 41077343 41077343 C T rs145237086 MCHR1 Nonsynonymous SNV S227F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 41954 chr5 140807343 140807343 G A rs3828681 PCDHGB8P 0 0 0.034 0 0 0 0 10 0 0 0 0 0.008 41955 chr2 1805489 1805489 A G rs2288179 MYT1L Synonymous SNV D1085D 0.071 0.076 0.044 31 83 29 0.079 13 2 1 1 3 1.459 41956 chr2 166535883 166535883 G C rs61738743 CSRNP3 Nonsynonymous SNV V460L 0.051 0.042 0.051 16 60 16 0.041 15 1 2 0 1 10.83 41957 chr5 140869003 140869003 T C rs1002519 PCDHGC5 Synonymous SNV L66L 0.152 0.159 0.17 53 178 61 0.136 50 13 7 6 2 0.001 41958 chr22 50898026 50898026 G A rs58335489 SBF1 Synonymous SNV Y1188Y 0.066 0.096 0.119 39 78 37 0.1 35 1 1 3 3 9.334 41959 chr5 140871249 140871249 G T rs11952292 PCDHGC5 Synonymous SNV T814T 0.067 0.078 0.054 37 79 30 0.095 16 2 1 0 2 8.26 41960 chr22 50901009 50901009 C T rs5771037 SBF1 Synonymous SNV T703T 0.066 0.094 0.119 34 78 36 0.087 35 1 1 3 2 9.078 41961 chr2 141032021 141032021 T A rs149644677 LRP1B Nonsynonymous SNV N4372Y 0.024 0.018 0.007 12 28 7 0.031 2 2 0 0 0 Likely benign 24.8 41962 chr5 141021096 141021096 G A rs32957 FCHSD1 Nonsynonymous SNV P681L 0.061 0.073 0.099 22 72 28 0.056 29 0 4 2 0 23.3 41963 chr5 141036337 141036337 A G rs7703648 ARAP3 Synonymous SNV A1201A 0.325 0.365 0.398 129 381 140 0.331 117 62 28 24 16 8.22 41964 chr2 141116420 141116420 C T rs150879175 LRP1B Nonsynonymous SNV G3743S 0.025 0.018 0.007 12 29 7 0.031 2 2 0 0 0 Benign 25.4 41965 chr5 141059868 141059868 T C rs11167756 ARAP3 Synonymous SNV L62L 0.362 0.385 0.442 151 425 148 0.387 130 74 30 30 23 4.246 41966 chr5 141243646 141243646 A G rs3797054 PCDH1 Synonymous SNV A371A 0.444 0.398 0.422 162 521 153 0.415 124 123 31 25 32 1.26 41967 chr12 55368188 55368188 T C rs17554194 TESPA1 Synonymous SNV Q53Q 0.035 0.036 0.034 18 41 14 0.046 10 0 1 1 1 1.024 41968 chr2 173352157 173352157 A T rs2293648 ITGA6 Synonymous SNV A712A 0.038 0.042 0.017 12 45 16 0.031 5 0 0 0 0 Benign 0.088 41969 chr5 142254679 142254679 A G rs185200 ARHGAP26 Synonymous SNV R85R 0.339 0.346 0.34 145 398 133 0.372 100 67 24 18 27 1.051 41970 chr2 182542998 182542998 G T rs8192556 NEUROD1 Nonsynonymous SNV P197H 0.052 0.026 0.061 13 61 10 0.033 18 0 0 1 0 Benign/Likely benign 22.5 41971 chr2 167289051 167289051 A C SCN7A Nonsynonymous SNV I790S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 17.32 41972 chr5 143200082 143200082 T C rs190861993 HMHB1 Synonymous SNV V25V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.017 41973 chr22 51113661 51113661 G T rs530240325 SHANK3 Synonymous SNV T158T 0.008 0 0 8 9 0 0.021 0 0 0 0 0 Likely benign 14.46 41974 chr2 174103160 174103160 T C rs3739103 MAP3K20 Synonymous SNV I421I 0.037 0.039 0.037 22 44 15 0.056 11 1 0 1 1 6.425 41975 chr2 108922036 108922036 T G rs17036104 SULT1C2 Nonsynonymous SNV S255A 0.091 0.091 0.095 47 107 35 0.121 28 3 2 2 4 16.17 41976 chr5 14488214 14488214 C T rs759022594 TRIO Nonsynonymous SNV P2493S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 41977 chr2 1488520 1488520 C T rs149718460 TPO Synonymous SNV I324I 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.035 41978 chr5 14498727 14498727 G A rs26107 TRIO Synonymous SNV S2770S 0.121 0.096 0.143 45 142 37 0.115 42 7 0 3 2 9.098 41979 chr2 175201299 175201299 C G rs62174227 SP9 Synonymous SNV G162G 0.147 0.172 0.105 53 172 66 0.136 31 12 8 1 1 22.7 41980 chr2 176964947 176964947 G A rs33921199 HOXD12 Nonsynonymous SNV A140T 0.02 0.023 0.027 7 24 9 0.018 8 1 1 0 0 0.008 41981 chr2 169999242 169999242 G A rs770227471 LRP2 Synonymous SNV S4350S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.71 41982 chr5 145506100 145506100 G A rs11540216 LARS1 Synonymous SNV N917N 0.068 0.089 0.078 24 80 34 0.062 23 2 0 2 0 Benign 5.685 41983 chr5 145650597 145650597 A G rs17104362 RBM27 Synonymous SNV K924K 0.089 0.107 0.075 37 105 41 0.095 22 1 1 2 1 0.945 41984 chr5 145838636 145838653 CAGGCCCAGGCCCAGGCC - rs776830305 TCERG1 A237_Q242del 0.029 0.023 0.027 11 34 9 0.028 8 0 0 0 1 41985 chr2 176988059 176988059 C A rs34862292 HOXD9 Nonsynonymous SNV S188Y 0.012 0.013 0.007 4 14 5 0.01 2 0 0 0 0 9.929 41986 chr2 176988681 176988681 G C rs765538916 HOXD9 Nonsynonymous SNV W279C 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 29.7 41987 chr2 178257724 178257724 A G rs34744592 AGPS Synonymous SNV A69A 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 Benign 10.43 41988 chr2 17884495 17884495 C T rs1065381 SMC6 Nonsynonymous SNV A691T 0.284 0.232 0.272 100 334 89 0.256 80 82 14 16 24 12.96 41989 chr2 163130350 163130350 A C IFIH1 Nonsynonymous SNV I803M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 41990 chr2 186654867 186654867 G C rs79762465 FSIP2 Nonsynonymous SNV D1002H 0.066 0.073 0.075 28 77 28 0.072 22 4 3 1 2 24.5 41991 chr22 43600140 43600140 T C rs776993356 SCUBE1 Nonsynonymous SNV K944E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.1 41992 chr2 110015138 110015138 C T rs117154967 SH3RF3 Synonymous SNV G346G 0.018 0.021 0.014 5 21 8 0.013 4 0 0 0 0 10.26 41993 chr2 110015309 110015309 T C rs10181644 SH3RF3 Synonymous SNV I403I 0.024 0.029 0.024 8 28 11 0.021 7 0 0 0 0 2.134 41994 chr2 17897488 17897488 T C rs35195207 SMC6 Nonsynonymous SNV R464G 0.306 0.286 0.276 114 359 110 0.292 81 55 11 7 20 22.6 41995 chr12 55945106 55945106 C G rs200854227 OR6C4 Synonymous SNV T32T 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 10.83 41996 chr2 110373197 110373197 G A rs1560884 SOWAHC Synonymous SNV K377K 0.273 0.299 0.282 130 320 115 0.333 83 43 16 11 23 3.083 41997 chr2 179188959 179188959 G A rs35032920 OSBPL6 Nonsynonymous SNV R32Q 0.105 0.109 0.099 43 123 42 0.11 29 8 3 2 2 23.3 41998 chr2 170865442 170865442 T C rs80239364 UBR3 Synonymous SNV S1453S 0.038 0.018 0.037 11 45 7 0.028 11 3 0 0 0 4.741 41999 chr2 179188974 179188974 C T rs34874235 OSBPL6 Nonsynonymous SNV P37L 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 22.6 42000 chr12 133778887 133778887 G A rs75772856 ZNF268 Nonsynonymous SNV R64H 0.029 0.018 0.058 14 34 7 0.036 17 0 0 2 0 7.903 42001 chr2 111399366 111399366 G A rs55731145 BUB1 Synonymous SNV A806A 0.008 0 0.01 5 9 0 0.013 3 0 0 0 0 Benign 11.63 42002 chr5 147805120 147805120 T C rs10043775 FBXO38 Nonsynonymous SNV S592P 0.26 0.305 0.32 108 305 117 0.277 94 41 14 15 12 12.25 42003 chr2 179201048 179201048 G T rs16866263 OSBPL6 Synonymous SNV P205P 0.101 0.109 0.095 38 118 42 0.097 28 6 3 2 2 11.4 42004 chr2 179399360 179399360 T C rs749981971 TTN Synonymous SNV T24929T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 7.86 42005 chr2 166246226 166246226 G A rs75057869 SCN2A Synonymous SNV T1970T 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Benign/Likely benign 5.792 42006 chr5 148206646 148206646 G A rs1042717 ADRB2 Synonymous SNV L84L 0.284 0.268 0.327 98 333 103 0.251 96 50 12 16 12 1.557 42007 chr2 179435418 179435418 T C rs56151652 TTN Synonymous SNV K16082K 0.007 0.01 0.014 2 8 4 0.005 4 0 0 0 0 Benign/Likely benign 0.484 42008 chr5 148206917 148206917 C A rs1042718 ADRB2 Synonymous SNV R175R 0.249 0.232 0.303 83 292 89 0.213 89 38 11 14 9 17.08 42009 chr2 17946243 17946243 A G rs16981869 GEN1 Nonsynonymous SNV N143S 0.099 0.109 0.129 30 116 42 0.077 38 2 1 1 2 22.8 42010 chr2 179497133 179497133 C T rs56034831 TTN Synonymous SNV R5431R 0.008 0.016 0.017 8 9 6 0.021 5 0 0 0 0 Benign/Likely benign 6.251 42011 chr2 179498042 179498042 T C rs6723526 TTN Nonsynonymous SNV K5255E 0.127 0.128 0.116 38 149 49 0.097 34 13 4 1 4 Benign/Likely benign 19.24 42012 chr2 179517605 179517605 G A rs150223722 TTN Nonsynonymous SNV P12977S 0.007 0.01 0.014 2 8 4 0.005 4 0 0 0 0 Benign/Likely benign 13.83 42013 chr12 56814656 56814656 A G rs61376834 TIMELESS Nonsynonymous SNV I1016T 0.055 0.052 0.034 19 65 20 0.049 10 0 1 0 0 9.224 42014 chr13 21563350 21563350 G C rs143535162 LATS2 Nonsynonymous SNV P190R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.121 42015 chr5 149212243 149212243 G C rs7732671 PPARGC1B Nonsynonymous SNV A164P 0.12 0.076 0.092 41 141 29 0.105 27 15 0 1 2 Benign 0.002 42016 chr2 174055646 174055646 T C rs35853276 MAP3K20 Synonymous SNV L147L 0.144 0.164 0.129 67 169 63 0.172 38 12 3 2 8 5.56 42017 chr5 149212471 149212471 G A rs17572019 PPARGC1B Nonsynonymous SNV V240I 0.117 0.07 0.085 39 137 27 0.1 25 14 0 0 2 0.002 42018 chr2 167262439 167262439 G C SCN7A Nonsynonymous SNV A1567G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 42019 chr2 167266440 167266440 C T rs16852124 SCN7A Synonymous SNV K1239K 0.021 0.018 0.017 8 25 7 0.021 5 1 1 0 0 7.789 42020 chr5 149323772 149323772 G A rs2277926 PDE6A Synonymous SNV N155N 0.166 0.164 0.143 62 195 63 0.159 42 14 4 3 5 Benign 7.594 42021 chr2 157425972 157425972 G A rs17266469 GPD2 Synonymous SNV G466G 0.037 0.029 0.041 12 44 11 0.031 12 1 0 0 0 11.18 42022 chr5 149323906 149323906 T G rs2277925 PDE6A Synonymous SNV R111R 0.165 0.164 0.15 62 194 63 0.159 44 14 4 3 5 Benign 7.05 42023 chr2 179583317 179583317 G A rs72648978 TTN Synonymous SNV T6928T 0.123 0.125 0.122 39 144 48 0.1 36 12 4 2 4 Benign/Likely benign 3.78 42024 chr2 175289314 175289314 T C rs17255817 SCRN3 Synonymous SNV P336P 0.106 0.099 0.129 39 125 38 0.1 38 4 3 2 1 7.848 42025 chr2 179586604 179586604 C G rs72648970 TTN Nonsynonymous SNV D6352H 0.032 0.042 0.027 4 38 16 0.01 8 0 1 0 0 Benign/Likely benign 19.84 42026 chr2 186672897 186672897 A G rs4666690 FSIP2 Synonymous SNV L6288L 0.378 0.411 0.408 156 444 158 0.4 120 80 33 23 30 0.191 42027 chr12 56865970 56865970 C T rs34265700 GLS2 Synonymous SNV L242L 0.026 0.026 0.014 15 31 10 0.038 4 0 0 0 0 15.74 42028 chr2 186678633 186678633 C T rs17826666 FSIP2 Nonsynonymous SNV T6730I 0.104 0.102 0.109 42 122 39 0.108 32 3 3 3 2 0.003 42029 chr2 105979752 105979752 G A rs137869171 FHL2 Synonymous SNV N112N 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 Benign 8.112 42030 chr2 18736630 18736630 C T rs74378191 NT5C1B-RDH14, RDH14 Nonsynonymous SNV V280I 0.028 0.042 0.017 12 33 16 0.031 5 0 0 0 0 0.114 42031 chr5 1494909 1494909 C T rs3733796 LPCAT1 Synonymous SNV A133A 0.15 0.169 0.153 73 176 65 0.187 45 18 6 0 5 17.39 42032 chr5 149574333 149574333 G A rs146657807 SLC6A7 Nonsynonymous SNV D26N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 42033 chr13 24330751 24330751 G A rs73158528 MIPEP Synonymous SNV A659A 0.013 0.013 0.003 6 15 5 0.015 1 0 0 0 0 Benign 13.52 42034 chr2 187534518 187534518 A G rs201781970 ITGAV Nonsynonymous SNV S859G 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 10.15 42035 chr13 24797786 24797786 G A rs9511156 SPATA13 Nonsynonymous SNV R240K 0.053 0.042 0.041 12 62 16 0.031 12 3 0 0 0 0.002 42036 chr5 149677818 149677818 G A rs77943970 ARSI Synonymous SNV H223H 0.037 0.042 0.061 12 44 16 0.031 18 0 1 0 0 Benign 0.369 42037 chr2 176995302 176995302 - CGCACC rs544054860 HOXD8 P74_S75insHP 0.049 0.047 0.037 15 57 18 0.038 11 1 0 0 0 42038 chr2 160239112 160239112 T C rs967997 BAZ2B Synonymous SNV K1285K 0.016 0.023 0.017 5 19 9 0.013 5 0 0 0 0 2.073 42039 chr2 170068710 170068710 G A rs144449508 LRP2 Synonymous SNV A2016A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 7.372 42040 chr12 57431732 57431732 G C rs151187460 MYO1A Nonsynonymous SNV R628G 0.011 0.013 0.007 13 13 5 0.033 2 1 0 0 0 Likely benign 33 42041 chr2 11706693 11706693 T C rs4669751 GREB1 Nonsynonymous SNV V122A 0.151 0.169 0.136 46 177 65 0.118 40 10 4 6 1 8.134 42042 chr22 45258373 45258373 G C rs41278891 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV R400S 0.04 0.039 0.037 10 47 15 0.026 11 0 0 0 0 0.994 42043 chr2 11725947 11725947 T C rs35188552 GREB1 Nonsynonymous SNV F359L 0.185 0.193 0.156 57 217 74 0.146 46 20 9 4 3 7.024 42044 chr2 179638238 179638238 G A rs2291306 TTN Synonymous SNV Y2469Y 0.128 0.125 0.122 46 150 48 0.118 36 13 4 2 4 Benign/Likely benign 0.06 42045 chr5 1501695 1501695 G A rs17588991 LPCAT1 Synonymous SNV L53L 0.051 0.047 0.071 23 60 18 0.059 21 2 1 0 0 7.225 42046 chr13 25075864 25075864 T C rs35200240 PARP4 Nonsynonymous SNV I81V 0.024 0.018 0.034 9 28 7 0.023 10 0 0 0 0 0.001 42047 chr5 150311622 150311622 A G rs12656542 ZNF300P1 0 0 0.592 0 0 0 0 174 0 0 49 0 1.676 42048 chr5 150311678 150311678 A G rs11167525 ZNF300P1 0 0 0.595 0 0 0 0 175 0 0 49 0 0.111 42049 chr5 150311773 150311773 T C rs7727919 ZNF300P1 0 0 0.595 0 0 0 0 175 0 0 49 0 0.531 42050 chr2 179358665 179358665 A G rs2303536 PLEKHA3 Synonymous SNV T133T 0.164 0.151 0.139 67 193 58 0.172 41 14 5 2 2 1.956 42051 chr2 11736305 11736305 G A rs36030386 GREB1 Nonsynonymous SNV A632T 0.201 0.195 0.184 55 236 75 0.141 54 24 9 5 4 5.871 42052 chr2 179395958 179395958 T C rs3813250 TTN Synonymous SNV A26063A 0.279 0.242 0.245 97 328 93 0.249 72 47 7 10 10 Benign 3.139 42053 chr5 150518988 150518988 G A rs2228458 ANXA6 Synonymous SNV L12L 0.253 0.234 0.255 85 297 90 0.218 75 37 7 11 12 12.38 42054 chr2 179396162 179396162 C G rs56308529 TTN Nonsynonymous SNV E25995D 0.037 0.034 0.031 15 43 13 0.038 9 2 0 0 0 Benign/Likely benign 20.7 42055 chr2 11742567 11742567 C T rs150696804 GREB1 Synonymous SNV F855F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.01 42056 chr2 179396354 179396354 G A rs3829748 TTN Synonymous SNV V25931V 0.149 0.172 0.16 48 175 66 0.123 47 13 3 4 3 Benign 9.568 42057 chr5 150646888 150646888 T C rs61740602 GM2A Nonsynonymous SNV V153A 0.112 0.102 0.139 49 131 39 0.126 41 5 1 3 5 Benign 0.001 42058 chr2 179397561 179397561 C T rs3829747 TTN Nonsynonymous SNV R25529H 0.148 0.169 0.156 46 174 65 0.118 46 13 2 4 2 Benign/Likely benign 24.3 42059 chr2 190531615 190531615 T C rs3828267 ASNSD1 Synonymous SNV L253L 0.046 0.036 0.024 13 54 14 0.033 7 2 0 0 0 0.002 42060 chr2 179398823 179398823 G A rs2857265 TTN Synonymous SNV G25108G 0.149 0.169 0.16 47 175 65 0.121 47 13 2 4 2 Benign 8.304 42061 chr2 179401742 179401742 C T rs55742743 TTN Nonsynonymous SNV R24300Q 0.014 0.008 0.007 5 16 3 0.013 2 1 0 0 0 Benign/Likely benign 23.9 42062 chr2 179403593 179403593 G A rs2303539 TTN-AS1 0.148 0.169 0.156 46 174 65 0.118 46 13 2 4 2 2.432 42063 chr5 150843165 150843165 C G rs72798317 SLC36A1 Nonsynonymous SNV P18A 0.022 0.01 0.044 6 26 4 0.015 13 0 0 0 0 15.4 42064 chr2 179406191 179406191 C T rs3731749 TTN Nonsynonymous SNV R23473H 0.148 0.169 0.156 46 174 65 0.118 46 13 2 4 2 Benign/Likely benign 25.8 42065 chr2 180311444 180311444 T C rs2271761 ZNF385B Nonsynonymous SNV S110G 0.025 0.029 0.037 6 29 11 0.015 11 0 1 0 0 9.543 42066 chr2 179413110 179413110 G A rs3731748 TTN Synonymous SNV A22016A 0.149 0.172 0.16 48 175 66 0.123 47 13 3 4 3 Benign 8.937 42067 chr2 179421694 179421694 A G rs9808377 TTN Nonsynonymous SNV I20331T 0.279 0.245 0.238 98 328 94 0.251 70 47 8 10 11 Benign/Likely benign 0.186 42068 chr12 57994851 57994851 G A rs200757445 PIP4K2C Synonymous SNV R309R 0.011 0.01 0.007 10 13 4 0.026 2 0 0 0 0 7.933 42069 chr2 179427186 179427186 A G rs2366751 TTN Synonymous SNV G18826G 0.279 0.245 0.245 97 327 94 0.249 72 47 8 10 11 Benign 11.42 42070 chr2 160968628 160968628 A G rs16844790 ITGB6 Synonymous SNV N593N 0.177 0.13 0.163 53 208 50 0.136 48 28 4 5 6 8.131 42071 chr2 179427536 179427536 T C rs3829746 TTN Nonsynonymous SNV I18710V 0.279 0.245 0.245 98 328 94 0.251 72 47 8 10 11 Benign/Likely benign 10.29 42072 chr2 162760646 162760646 C A rs61748242 SLC4A10 Synonymous SNV I446I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 16.21 42073 chr2 171243616 171243616 G A rs749272470 MYO3B Nonsynonymous SNV A459T 0.001 0.013 0 0 1 5 0 0 0 0 0 0 32 42074 chr2 191231503 191231503 G A rs4940 INPP1 Synonymous SNV V116V 0.27 0.242 0.286 116 317 93 0.297 84 40 12 13 16 7.522 42075 chr2 179430997 179430997 G A rs3731746 TTN Nonsynonymous SNV T17556M 0.21 0.198 0.194 70 246 76 0.179 57 26 4 5 5 Benign/Likely benign 18.13 42076 chr13 28494501 28494501 G A rs137852783 PDX1 Nonsynonymous SNV D76N 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 42077 chr5 150908812 150908812 C T rs7718054 FAT2 Nonsynonymous SNV R3318Q 0.025 0.01 0.037 4 29 4 0.01 11 0 0 0 0 21 42078 chr2 179436020 179436020 G A rs744426 TTN Nonsynonymous SNV R15882C 0.148 0.169 0.156 45 174 65 0.115 46 13 2 4 1 Benign/Likely benign 23 42079 chr2 111875391 111875391 T C rs150464195 ACOXL X581Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 22.9 42080 chr2 191927565 191927565 A G rs138535661 STAT4 Synonymous SNV Y288Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.094 42081 chr5 150931082 150931082 C G rs55719915 FAT2 Synonymous SNV S1414S 0.027 0.036 0.017 9 32 14 0.023 5 0 1 0 0 8.488 42082 chr2 179444939 179444939 C T rs2303838 TTN Nonsynonymous SNV V13294I 0.233 0.214 0.197 80 273 82 0.205 58 31 4 4 7 Benign/Likely benign 13.39 42083 chr2 179447848 179447848 T C rs4894029 TTN Synonymous SNV T12829T 0.281 0.255 0.245 99 330 98 0.254 72 48 9 10 11 Benign 10.83 42084 chr2 179451420 179451420 G A rs2042996 TTN Nonsynonymous SNV T12338I 0.278 0.247 0.231 98 326 95 0.251 68 48 7 8 10 Benign/Likely benign 22.3 42085 chr2 179454394 179454394 A G rs1560221 TTN Synonymous SNV Y11621Y 0.279 0.253 0.241 99 327 97 0.254 71 48 9 9 11 Benign 0.001 42086 chr13 28866586 28866586 C G rs149369530 PAN3 Nonsynonymous SNV T864S 0.028 0.018 0.017 16 33 7 0.041 5 2 0 0 0 12.4 42087 chr2 196619105 196619105 T C rs78583300 DNAH7 Nonsynonymous SNV Y3907C 0.009 0.016 0.014 3 10 6 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 42088 chr2 179455207 179455207 T C rs2163009 TTN Synonymous SNV T11350T 0.279 0.253 0.245 99 327 97 0.254 72 48 9 10 11 Benign 0.041 42089 chr2 113277949 113277949 T C rs62157538 TTL Synonymous SNV D322D 0.104 0.081 0.146 42 122 31 0.108 43 6 2 1 1 5.215 42090 chr2 179457147 179457147 G A rs16866406 TTN Nonsynonymous SNV P10797L 0.147 0.174 0.153 47 173 67 0.121 45 13 2 3 2 Benign/Likely benign 17.24 42091 chr2 172650165 172650165 C T rs35565687 SLC25A12 Nonsynonymous SNV R473Q 0.027 0.039 0.037 16 32 15 0.041 11 0 0 0 0 Benign 26.3 42092 chr2 179458591 179458591 C T rs2288569 TTN Nonsynonymous SNV R10414H 0.147 0.174 0.153 46 173 67 0.118 45 13 2 3 2 Benign/Likely benign 24.6 42093 chr2 166605366 166605366 A G rs142136047 GALNT3 Synonymous SNV N609N 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Benign 4.55 42094 chr2 179464527 179464527 T C rs1001238 TTN Nonsynonymous SNV N9636D 0.279 0.253 0.245 99 327 97 0.254 72 48 9 10 11 Benign/Likely benign 17.23 42095 chr2 113484309 113484309 G A rs565571738 NT5DC4 Synonymous SNV E388E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.255 42096 chr5 1510904 1510904 G A rs78541299 MIR6075 0 0 0.017 0 0 0 0 5 0 0 0 0 2.267 42097 chr2 179543217 179543217 C T rs35112591 TTN Synonymous SNV E10034E 0.196 0.203 0.184 66 230 78 0.169 54 26 6 5 5 Benign 16.71 42098 chr2 179575511 179575511 C T rs72648998 TTN Nonsynonymous SNV R8194Q 0.035 0.042 0.044 16 41 16 0.041 13 1 0 0 0 Benign/Likely benign 23.5 42099 chr2 175202223 175202223 C T rs556337561 SP9 Synonymous SNV A470A 0.023 0.023 0.024 5 27 9 0.013 7 1 0 0 0 12.46 42100 chr5 154291298 154291298 C T rs146816444 GEMIN5 Nonsynonymous SNV R718Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 42101 chr12 64821898 64821898 C T XPOT Nonsynonymous SNV P579S 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 22.1 42102 chr2 197511210 197511210 T C rs753355962 CCDC150 Nonsynonymous SNV L53S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.92 42103 chr2 179578730 179578730 G A rs2562839 TTN Synonymous SNV S7641S 0.248 0.234 0.194 87 291 90 0.223 57 35 10 7 7 Benign 15.67 42104 chr2 179579093 179579093 T C rs12693164 TTN Nonsynonymous SNV N7559S 0.2 0.19 0.16 69 235 73 0.177 47 28 8 4 5 Benign/Likely benign 0.068 42105 chr2 127828158 127828158 C T rs769724273 BIN1 Nonsynonymous SNV G96S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.8 42106 chr2 179579212 179579212 T C rs2562838 TTN Synonymous SNV E7519E 0.25 0.234 0.204 89 294 90 0.228 60 35 10 8 7 Benign 2.396 42107 chr12 65224174 65224174 A G rs61730726 TBC1D30 Synonymous SNV A100A 0.141 0.12 0.153 42 165 46 0.108 45 8 1 6 3 6.606 42108 chr2 179579822 179579822 T A rs2562836 TTN Synonymous SNV L7453L 0.249 0.234 0.194 88 292 90 0.226 57 35 10 7 7 Benign 12.76 42109 chr2 179582327 179582327 C T rs13390491 TTN Nonsynonymous SNV S7181N 0.195 0.188 0.156 67 229 72 0.172 46 25 7 3 5 Benign/Likely benign 14.41 42110 chr2 179582537 179582537 G T rs2627043 TTN Nonsynonymous SNV A7111E 0.248 0.234 0.187 89 291 90 0.228 55 35 10 6 7 Benign/Likely benign 19.89 42111 chr12 66700169 66700169 A G HELB Nonsynonymous SNV M218V 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 15 42112 chr2 179583496 179583496 T G rs16866465 TTN Nonsynonymous SNV E6900A 0.195 0.188 0.156 68 229 72 0.174 46 25 7 4 5 Benign/Likely benign 9.586 42113 chr2 201436555 201436555 A G rs17448235 SGO2 Nonsynonymous SNV I496V 0.1 0.089 0.119 53 117 34 0.136 35 5 1 1 8 0.002 42114 chr2 179587130 179587130 C G rs12693166 TTN Nonsynonymous SNV D6218H 0.195 0.188 0.156 69 229 72 0.177 46 25 7 4 5 Benign/Likely benign 21.6 42115 chr22 46930107 46930107 C T rs8141744 CELSR1 Synonymous SNV V987V 0.163 0.151 0.177 62 191 58 0.159 52 15 4 4 4 5.278 42116 chr2 178545566 178545566 C T rs75127279 PDE11A Nonsynonymous SNV R360H 0.008 0.029 0.01 5 9 11 0.013 3 0 0 0 0 35 42117 chr2 128477084 128477084 G C rs61730415 WDR33 Nonsynonymous SNV P839A 0.098 0.073 0.102 31 115 28 0.079 30 5 2 2 3 22 42118 chr2 179600648 179600648 C T rs2742347 TTN Nonsynonymous SNV R3598K 0.036 0.031 0.024 17 42 12 0.044 7 1 0 0 1 Benign/Likely benign 5.839 42119 chr2 179604160 179604160 T G rs1883085 TTN Nonsynonymous SNV L4237F 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign 0.005 42120 chr2 113940207 113940207 T A rs3738908 PSD4 Synonymous SNV P58P 0.02 0.018 0.007 2 24 7 0.005 2 0 0 0 0 2.513 42121 chr2 20205541 20205541 C T rs52826764 MATN3 Nonsynonymous SNV E252K 0.054 0.052 0.024 32 63 20 0.082 7 1 0 0 3 Benign 34 42122 chr2 179604366 179604366 T G rs2562829 TTN Nonsynonymous SNV T4169P 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign 0.047 42123 chr2 12858444 12858444 A G rs55813198 TRIB2 Nonsynonymous SNV H4R 0.029 0.039 0.031 10 34 15 0.026 9 1 0 1 0 8.104 42124 chr2 179604742 179604742 G A rs1883084 TTN Synonymous SNV A4043A 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign 4.948 42125 chr2 179605180 179605180 C A rs746578 TTN Synonymous SNV A3897A 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign 11.62 42126 chr2 179605705 179605705 A G rs2742357 TTN Synonymous SNV I3722I 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign 10.04 42127 chr2 179606538 179606538 G A rs2627037 TTN Nonsynonymous SNV P3445S 0.065 0.055 0.051 26 76 21 0.067 15 1 0 1 1 Benign 16.08 42128 chr2 179393803 179393803 C G rs199632397 TTN Nonsynonymous SNV E26494Q 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 42129 chr2 179611711 179611711 C A rs66677602 TTN Nonsynonymous SNV R5139M 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign 9.203 42130 chr2 179413452 179413452 G A rs11694623 TTN Synonymous SNV S21902S 0.034 0.029 0.041 12 40 11 0.031 12 3 0 0 0 Conflicting interpretations of pathogenicity 11.21 42131 chr2 129075877 129075877 G T rs200979099 HS6ST1 Nonsynonymous SNV D87E 0.092 0.107 0.044 35 108 41 0.09 13 0 0 0 0 Likely benign 27.5 42132 chr5 158743788 158743788 C A rs3213119 IL12B Nonsynonymous SNV V298F 0.03 0.039 0.034 13 35 15 0.033 10 1 0 0 1 Benign/Likely benign 29 42133 chr2 202436684 202436684 T A rs55872838 C2CD6 Synonymous SNV P271P 0.064 0.057 0.051 22 75 22 0.056 15 2 0 0 1 10.72 42134 chr2 11740961 11740961 C T rs76644468 GREB1 Nonsynonymous SNV P790L 0.023 0.021 0.02 4 27 8 0.01 6 0 0 1 0 18.46 42135 chr2 179441295 179441295 T C rs72646885 TTN Nonsynonymous SNV S14161G 0.012 0.01 0.01 3 14 4 0.008 3 0 0 0 0 Benign 12.99 42136 chr2 170129547 170129547 C T rs34291900 LRP2 Nonsynonymous SNV G669D 0.031 0.031 0.037 9 36 12 0.023 11 0 0 0 0 Benign/Likely benign 33 42137 chr5 159912418 159912418 C G rs2910164 MIR146A, MIR3142HG 0 0 0.711 0 0 0 0 209 0 0 76 0 17.07 42138 chr2 131674061 131674061 C T rs983515828 ARHGEF4 Synonymous SNV L848L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.016 42139 chr5 159992697 159992697 C T rs4921302 ATP10B Synonymous SNV K1383K 0.12 0.115 0.15 45 141 44 0.115 44 9 1 4 1 12.2 42140 chr2 179456487 179456487 C A TTN Nonsynonymous SNV G10955V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 42141 chr5 159992751 159992751 A G rs4921150 ATP10B Synonymous SNV T1365T 0.164 0.146 0.184 62 192 56 0.159 54 16 2 5 2 0.816 42142 chr5 160029587 160029587 G A rs141953233 ATP10B Synonymous SNV N1120N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.86 42143 chr2 170366296 170366296 C T rs28730867 KLHL41 Nonsynonymous SNV S3F 0.007 0.008 0.017 1 8 3 0.003 5 0 0 0 0 Benign 25.9 42144 chr2 179605725 179605725 T C rs34070843 TTN Nonsynonymous SNV I3716V 0.03 0.047 0.014 5 35 18 0.013 4 1 0 0 0 Benign 0.005 42145 chr22 50502469 50502469 - GCACCCCCACCCCACAGGCCACTCACCTCCCCG rs11568189 MLC1 V354_A355insSGLWGGGAGEV 0.051 0.06 0.01 18 60 23 0.046 3 11 2 1 1 42146 chr22 50502491 50502491 T C rs11568188 MLC1 Nonsynonymous SNV N344S 0.07 0.083 0.054 24 82 32 0.062 16 12 2 1 1 Benign 0.001 42147 chr2 179613191 179613191 T C rs140909116 TTN Nonsynonymous SNV K4646E 0.022 0.01 0.024 4 26 4 0.01 7 0 0 0 0 Benign 2.993 42148 chr2 179628918 179628918 C T rs34819099 TTN Nonsynonymous SNV R3321Q 0.013 0.008 0.007 4 15 3 0.01 2 1 0 0 0 Benign/Likely benign 23.3 42149 chr5 161281245 161281245 T C rs1129647 GABRA1 Synonymous SNV G52G 0.318 0.367 0.374 122 373 141 0.313 110 55 29 20 19 Benign 2.002 42150 chr2 204009521 204009521 A G rs769650734 NBEAL1 Nonsynonymous SNV N1654D 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 14.7 42151 chr2 170403106 170403106 G A rs16857030 FASTKD1 Synonymous SNV A418A 0.041 0.044 0.058 31 48 17 0.079 17 2 0 1 1 17.27 42152 chr5 161528280 161528280 C T rs211037 GABRG2 Synonymous SNV N196N 0.222 0.229 0.197 93 261 88 0.238 58 31 4 7 12 Benign 13.14 42153 chr22 50502526 50502526 A G rs11568187 MLC1 Synonymous SNV S332S 0.071 0.083 0.068 24 83 32 0.062 20 12 2 1 1 Benign 0.291 42154 chr5 162896759 162896759 C G rs34815524 HMMR Nonsynonymous SNV S42C 0.01 0.034 0.031 19 12 13 0.049 9 0 0 0 1 22.7 42155 chr22 50502544 50502544 G A rs11568186 MLC1 Synonymous SNV C326C 0.071 0.083 0.071 24 83 32 0.062 21 12 2 1 1 Benign 9.735 42156 chr5 162940999 162940999 A G rs11546512 MAT2B Synonymous SNV L175L 0.124 0.133 0.204 48 145 51 0.123 60 11 4 5 2 11.92 42157 chr2 186673830 186673830 G C rs116639972 FSIP2 Nonsynonymous SNV K6599N 0.023 0.01 0.014 8 27 4 0.021 4 0 0 0 0 22.3 42158 chr2 179631214 179631214 T C rs2291312 TTN Synonymous SNV E3153E 0.053 0.052 0.031 16 62 20 0.041 9 1 0 0 0 Benign/Likely benign 0.867 42159 chr2 170780657 170780657 C T rs61744354 UBR3 Synonymous SNV L666L 0.057 0.055 0.088 16 67 21 0.041 26 6 1 1 2 13.9 42160 chr2 179634936 179634936 C T rs2306636 TTN Nonsynonymous SNV S2785N 0.026 0.026 0.017 11 31 10 0.028 5 1 0 0 0 Benign/Likely benign 18.33 42161 chr2 179637861 179637861 C G rs56142888 TTN Nonsynonymous SNV M2564I 0.022 0.016 0.014 9 26 6 0.023 4 1 0 0 0 Benign/Likely benign 10.98 42162 chr2 179641975 179641975 C T rs12476289 TTN Nonsynonymous SNV R1526Q 0.022 0.016 0.017 9 26 6 0.023 5 1 0 0 0 Benign/Likely benign 18.21 42163 chr5 167868779 167868779 A G rs3733981 WWC1 Synonymous SNV K791K 0.345 0.365 0.381 134 405 140 0.344 112 71 21 22 26 11.24 42164 chr2 120197784 120197784 A G rs145773754 SCTR Nonsynonymous SNV F411S 0.02 0.029 0.014 0 23 11 0 4 0 0 0 0 16.12 42165 chr5 167868809 167868809 C T rs3733980 WWC1 Synonymous SNV V801V 0.345 0.367 0.371 134 405 141 0.344 109 71 21 22 26 12.01 42166 chr2 179643691 179643691 G T TTN Nonsynonymous SNV A1327E 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22 42167 chr5 167881030 167881032 GGA - rs111457550 WWC1 E865del 0.198 0.174 0.17 59 233 67 0.151 50 32 13 1 3 42168 chr2 179644160 179644160 T C rs2291308 TTN Synonymous SNV R1207R 0.02 0.013 0.017 8 24 5 0.021 5 1 0 0 0 Benign 2.362 42169 chr2 135976662 135976663 TT - rs531232289 ZRANB3 K777Tfs*15 0.014 0.013 0.01 6 16 5 0.015 3 0 0 0 0 42170 chr2 179647546 179647546 A G rs55863869 TTN Synonymous SNV Y983Y 0.026 0.018 0.024 13 30 7 0.033 7 2 0 0 0 Benign 0.009 42171 chr2 189862097 189862097 G A rs7579903 COL3A1 Synonymous SNV Q617Q 0.179 0.185 0.163 52 210 71 0.133 48 20 4 10 6 Benign 9.841 42172 chr5 168175324 168175324 G T rs17634681 SLIT3 Synonymous SNV P751P 0.068 0.076 0.044 18 80 29 0.046 13 1 0 1 1 8.978 42173 chr2 135985403 135985403 G A rs199659879 ZRANB3 Nonsynonymous SNV L713F 0.014 0.013 0.01 7 17 5 0.018 3 0 0 0 0 8.168 42174 chr2 206590686 206590686 T C rs2228639 NRP2 Synonymous SNV N290N 0.105 0.115 0.116 48 123 44 0.123 34 7 4 2 2 8.476 42175 chr5 168180081 168180081 C T rs10036727 SLIT3 Nonsynonymous SNV G618S 0.459 0.526 0.517 187 539 202 0.479 152 115 49 39 45 21.4 42176 chr2 121103903 121103903 T G rs11900747 INHBB Nonsynonymous SNV S47A 0.021 0.003 0.088 7 25 1 0.018 26 5 0 1 1 2.487 42177 chr2 179721032 179721032 C T rs12464157 CCDC141 Synonymous SNV A939A 0.057 0.042 0.02 23 67 16 0.059 6 4 1 0 0 12.53 42178 chr2 172945107 172945107 C T rs12473549 METAP1D Synonymous SNV I209I 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 13.56 42179 chr2 189940142 189940142 T G rs76148000 COL5A2 Nonsynonymous SNV M361L 0.05 0.07 0.034 28 59 27 0.072 10 1 0 0 1 Benign/Likely benign 23.7 42180 chr22 50722408 50722408 T C rs79966207 PLXNB2 Nonsynonymous SNV N759D 0.187 0.18 0.19 57 219 69 0.146 56 18 9 7 2 20.5 42181 chr2 172967128 172967128 - GCT rs201510837 DLX2 S46_L47insS 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 42182 chr2 121743883 121743883 G A rs114259687 GLI2 Synonymous SNV S520S 0.014 0.016 0.01 5 16 6 0.013 3 0 0 0 0 Benign/Likely benign 5.186 42183 chr2 173427483 173427483 C A PDK1 Nonsynonymous SNV T142K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.59 42184 chr5 169127097 169127097 C A rs2112703 DOCK2 Synonymous SNV T404T 0.189 0.193 0.194 67 222 74 0.172 57 19 7 9 5 16.52 42185 chr2 179783470 179783470 C T rs72961212 CCDC141 Synonymous SNV K354K 0.041 0.057 0.078 18 48 22 0.046 23 1 0 0 0 16.96 42186 chr13 42877453 42877453 C T AKAP11 Nonsynonymous SNV T1524I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 42187 chr2 207527840 207527840 G T rs2115591 DYTN Nonsynonymous SNV Q474K 0.416 0.43 0.347 138 488 165 0.354 102 108 31 14 19 0.001 42188 chr2 207570529 207570529 G C rs56067462 DYTN Nonsynonymous SNV P122R 0.067 0.083 0.037 19 79 32 0.049 11 4 1 0 0 24.3 42189 chr13 43462434 43462434 - TCAGG rs397971974 EPSTI1 Frameshift insertion E395Dfs*24 0.04 0.036 0.024 16 47 14 0.041 7 2 0 0 0 42190 chr5 169693858 169693858 G A rs56262228 LCP2 Synonymous SNV P242P 0.039 0.034 0.075 19 46 13 0.049 22 2 0 2 1 4.937 42191 chr2 136594558 136594558 A G rs146572522 LCT Nonsynonymous SNV M61T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.067 42192 chr2 190922050 190922050 A G rs761053215 MSTN Synonymous SNV N354N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 0.282 42193 chr2 136873084 136873084 G A rs2228014 CXCR4 Synonymous SNV I142I 0.081 0.083 0.068 33 95 32 0.085 20 5 2 2 0 Benign 9.684 42194 chr2 127656810 127656810 G A rs938017 TEX51 Nonsynonymous SNV E55K 0.038 0.036 0.058 21 45 14 0.054 17 3 0 1 0 20.8 42195 chr5 171523436 171523436 G A rs4868141 STK10 Synonymous SNV A333A 0.106 0.099 0.153 50 125 38 0.128 45 8 3 4 2 10.06 42196 chr2 17696620 17696620 C G rs114231058 RAD51AP2 Synonymous SNV V1021V 0.054 0.031 0.024 16 63 12 0.041 7 1 0 0 1 1.397 42197 chr5 171627701 171627701 G A rs17074425 EFCAB9 Synonymous SNV Q139Q 0.182 0.159 0.153 74 214 61 0.19 45 18 5 1 7 0.107 42198 chr2 17696756 17696756 C T rs17314548 RAD51AP2 Nonsynonymous SNV R976H 0.039 0.055 0.075 11 46 21 0.028 22 0 2 0 0 9.696 42199 chr5 172381973 172381973 - GGT rs56746501 LOC100268168 0 0 0.296 0 0 0 0 87 0 0 9 0 42200 chr2 17697057 17697057 C G rs17380212 RAD51AP2 Nonsynonymous SNV V876L 0.039 0.055 0.068 11 46 21 0.028 20 0 2 0 0 12.82 42201 chr5 174178774 174178774 G A rs7709117 MIR4634 0 0 0.452 0 0 0 0 133 0 0 35 0 9.553 42202 chr22 50942121 50942121 C T rs13056405 LMF2 Nonsynonymous SNV S583N 0.191 0.198 0.136 77 224 76 0.197 40 50 12 10 10 19.05 42203 chr2 17697404 17697404 C A rs76177128 RAD51AP2 Nonsynonymous SNV S760I 0.039 0.055 0.075 11 46 21 0.028 22 0 2 0 0 11.48 42204 chr2 20818764 20818764 C T rs3732149 HS1BP3 Nonsynonymous SNV A388T 0.199 0.198 0.173 98 234 76 0.251 51 30 8 5 9 0.062 42205 chr2 18112314 18112314 C T rs35186900 KCNS3 Synonymous SNV D13D 0.037 0.039 0.041 6 43 15 0.015 12 0 0 0 0 10.06 42206 chr2 17698213 17698213 C G rs62130404 RAD51AP2 Nonsynonymous SNV Q490H 0.039 0.055 0.065 11 46 21 0.028 19 0 2 0 0 11.97 42207 chr2 17698220 17698220 G A rs62130405 RAD51AP2 Nonsynonymous SNV T488I 0.039 0.055 0.071 11 46 21 0.028 21 0 2 0 0 0.003 42208 chr5 176002542 176002542 C T rs41275281 CDHR2 Synonymous SNV G268G 0.074 0.065 0.092 32 87 25 0.082 27 6 1 1 1 13.21 42209 chr2 17699275 17699275 G T rs114644105 RAD51AP2 Synonymous SNV G136G 0.039 0.055 0.075 11 46 21 0.028 22 0 2 0 0 0.867 42210 chr2 183848053 183848053 A G rs35142583 NCKAP1 Synonymous SNV A354A 0.045 0.029 0.051 14 53 11 0.036 15 2 0 0 0 12.26 42211 chr2 141707812 141707812 G C rs141827692 LRP1B Nonsynonymous SNV T1043S 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Benign 19.1 42212 chr22 50962150 50962150 G A SCO2 Nonsynonymous SNV L231F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 24.7 42213 chr2 20838222 20838222 C T rs3796065 HS1BP3 Synonymous SNV E199E 0.199 0.195 0.167 97 234 75 0.249 49 29 8 3 9 13.37 42214 chr22 50988105 50988105 G A rs36062310 KLHDC7B Nonsynonymous SNV V1145M 0.026 0.044 0.027 11 30 17 0.028 8 0 1 0 0 16.21 42215 chr2 176995607 176995607 G A rs3765049 HOXD8 Synonymous SNV E171E 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 7.964 42216 chr5 176056539 176056539 G A rs377282196 SNCB Synonymous SNV Y39Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 42217 chr2 196720705 196720705 T C rs16841018 DNAH7 Nonsynonymous SNV I2809V 0.057 0.036 0.051 25 67 14 0.064 15 6 0 1 2 7.962 42218 chr5 176309078 176309078 C T rs745716229 HK3 Nonsynonymous SNV V702M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 42219 chr2 131673496 131673496 T G rs13390659 ARHGEF4 Nonsynonymous SNV F659L 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 5.316 42220 chr2 177054597 177054597 C G rs112900146 HOXD1 Synonymous SNV T238T 0.022 0.008 0.007 11 26 3 0.028 2 0 0 0 0 12.83 42221 chr2 196728886 196728886 A G rs200303203 DNAH7 Nonsynonymous SNV I2498T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 27.9 42222 chr2 196728931 196728931 C T rs146463525 DNAH7 Nonsynonymous SNV R2483Q 0.007 0.013 0.003 2 8 5 0.005 1 0 0 0 0 Likely benign 33 42223 chr2 178545589 178545589 G A rs61745593 PDE11A Synonymous SNV Y352Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.297 42224 chr2 133489401 133489401 A G rs17397142 NCKAP5 Synonymous SNV D465D 0.16 0.193 0.129 61 188 74 0.156 38 12 8 2 6 0.174 42225 chr2 197080642 197080642 G A rs17310196 HECW2 Synonymous SNV N1162N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 10.38 42226 chr2 197541296 197541296 G A rs17271281 CCDC150 Synonymous SNV E95E 0.122 0.141 0.116 56 143 54 0.144 34 11 5 3 5 9.711 42227 chr2 179188951 179188951 T C rs79358798 OSBPL6 Synonymous SNV S29S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.885 42228 chr2 179341877 179341877 G A rs34960361 FKBP7 Synonymous SNV G95G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 42229 chr2 179393111 179393111 A G rs16866378 TTN Nonsynonymous SNV V26691A 0.06 0.029 0.031 23 70 11 0.059 9 1 0 1 0 Benign/Likely benign 7.207 42230 chr5 176931594 176931594 G C rs61749657 DOK3 Nonsynonymous SNV P238R 0.033 0.039 0.054 13 39 15 0.033 16 2 0 1 1 10.76 42231 chr2 198327314 198327314 G A rs3754822 COQ10B Synonymous SNV K52K 0.216 0.221 0.235 87 253 85 0.223 69 28 11 9 9 14.36 42232 chr2 179394742 179394742 A G rs6725673 TTN Synonymous SNV C26427C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.704 42233 chr2 179395760 179395760 G A rs3829749 TTN Synonymous SNV S26129S 0.06 0.029 0.031 23 70 11 0.059 9 1 0 1 0 Benign 12.54 42234 chr2 198363504 198363504 A G rs1050347 HSPD1 Synonymous SNV T23T 0.215 0.219 0.231 87 252 84 0.223 68 28 11 8 9 Benign 10.48 42235 chr2 198498595 198498595 C T rs139323535 RFTN2 Nonsynonymous SNV G189S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 0.009 42236 chr2 179396965 179396965 T G rs72629787 TTN Nonsynonymous SNV M25728L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.76 42237 chr2 179399539 179399539 T C rs56376197 TTN Nonsynonymous SNV I24870V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.14 42238 chr2 186661567 186661567 G A rs12999160 FSIP2 Nonsynonymous SNV C3235Y 0.08 0.081 0.102 40 94 31 0.103 30 3 2 0 2 0.001 42239 chr2 179414162 179414162 T C rs16866391 TTN Nonsynonymous SNV I21666V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.028 42240 chr2 186659184 186659184 C A rs77937204 FSIP2 Nonsynonymous SNV Q2441K 0.142 0.198 0.139 61 167 76 0.156 41 10 5 3 5 10.29 42241 chr12 94658950 94658950 C T rs145983909 PLXNC1 Synonymous SNV Y1182Y 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 9.817 42242 chr2 152496526 152496526 A G rs6713162 NEB Nonsynonymous SNV S2912P 0.16 0.138 0.17 53 188 53 0.136 50 17 4 3 6 Benign 16.29 42243 chr12 94796955 94796955 A G rs148769208 CEP83 Synonymous SNV N136N 0.014 0.016 0.024 3 16 6 0.008 7 1 0 0 0 Benign 0.902 42244 chr2 152499734 152499734 A G rs563560112 NEB Nonsynonymous SNV F2697S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 42245 chr2 152521096 152521096 C T rs10170273 NEB Synonymous SNV E1790E 0.164 0.141 0.17 55 193 54 0.141 50 20 4 3 6 Benign 15.1 42246 chr2 179427560 179427560 G T rs184643087 TTN Nonsynonymous SNV P18702T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.54 42247 chr5 177612983 177612983 G A rs13169133 GMCL2 Nonsynonymous SNV R440C 0 0 0.711 0 0 0 0 209 0 0 74 0 3.758 42248 chr2 136499449 136499449 C T rs373447948 LOC107985946 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.28 42249 chr5 177613123 177613123 T C rs10479619 GMCL2 Nonsynonymous SNV N393S 0 0 0.983 0 0 0 0 289 0 0 142 0 2.86 42250 chr5 177613168 177613168 C T rs13184406 GMCL2 Nonsynonymous SNV R378H 0 0 0.711 0 0 0 0 209 0 0 74 0 7.136 42251 chr5 177614001 177614001 T C rs3812083 GMCL2 Synonymous SNV T100T 0 0 0.153 0 0 0 0 45 0 0 3 0 0.354 42252 chr5 177614090 177614090 G C rs2913782 GMCL2 Nonsynonymous SNV H71D 0 0 0.252 0 0 0 0 74 0 0 7 0 1.562 42253 chr5 177614094 177614094 C G rs2961665 GMCL2 Nonsynonymous SNV E69D 0 0 0.252 0 0 0 0 74 0 0 7 0 0.303 42254 chr2 20202930 20202930 G A rs77245812 MATN3 Nonsynonymous SNV T303M 0.039 0.029 0.014 11 46 11 0.028 4 1 0 0 0 Benign 32 42255 chr5 177614137 177614137 C T rs3812086 GMCL2 Nonsynonymous SNV S55N 0 0 0.15 0 0 0 0 44 0 0 1 0 13.92 42256 chr5 177614183 177614183 T C rs2913783 GMCL2 Nonsynonymous SNV S40G 0 0 0.459 0 0 0 0 135 0 0 33 0 2.503 42257 chr2 179431797 179431797 A T rs3731744 TTN Synonymous SNV G17289G 0.06 0.029 0.031 23 70 11 0.059 9 1 0 1 0 Benign 0.074 42258 chr5 177675217 177675217 C T rs2913851 COL23A1 Synonymous SNV A396A 0.561 0.536 0.544 216 659 206 0.554 160 196 50 43 64 17.2 42259 chr2 179432712 179432712 T C rs149127072 TTN Synonymous SNV Q16984Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.192 42260 chr2 202136272 202136272 C T rs17860422 CASP8 Synonymous SNV S172S 0.005 0.008 0.017 0 6 3 0 5 0 0 0 0 Benign/Likely benign 7.952 42261 chr5 178194326 178194326 C T rs34080101 AACSP1 0 0 0.561 0 0 0 0 165 0 0 75 0 6.307 42262 chr5 178199558 178199558 C G rs13354485 AACSP1 0 0 0.323 0 0 0 0 95 0 0 20 0 7.565 42263 chr2 179445129 179445129 T C rs202125813 TTN Nonsynonymous SNV K13261R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.69 42264 chr2 153575952 153575952 A G ARL6IP6 Synonymous SNV L18L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.827 42265 chr2 136624211 136624211 A C rs934571521 MCM6 Nonsynonymous SNV S235A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.63 42266 chr2 136874135 136874135 G A rs139877430 CXCR4 Nonsynonymous SNV L47F 0.087 0.102 0 30 102 39 0.077 0 5 2 0 0 7.813 42267 chr2 186673315 186673315 A C rs190235420 FSIP2 Nonsynonymous SNV N6428H 0.022 0.026 0.003 8 26 10 0.021 1 0 1 0 0 2.056 42268 chr12 96883627 96883627 G A rs117115963 CFAP54 Synonymous SNV Q80Q 0.015 0.021 0.031 7 18 8 0.018 9 0 0 0 0 1.633 42269 chr2 179454274 179454274 A G rs72646847 TTN Synonymous SNV T11661T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.535 42270 chr2 137814489 137814489 T G rs61748666 THSD7B Synonymous SNV G213G 0.017 0.013 0.027 8 20 5 0.021 8 1 0 0 0 0.006 42271 chr2 137852550 137852550 G A rs61741426 THSD7B Nonsynonymous SNV R353H 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 23.3 42272 chr2 202352574 202352574 G A rs770018530 C2CD6 Nonsynonymous SNV L545F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.1 42273 chr2 179458002 179458002 G A rs2303836 TTN Synonymous SNV L10580L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.874 42274 chr2 179462345 179462345 C T rs72646833 TTN Nonsynonymous SNV R10090K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.4 42275 chr12 96974751 96974751 A G rs17025572 CFAP54 Synonymous SNV E981E 0.042 0.049 0.068 22 49 19 0.056 20 0 1 0 0 0.997 42276 chr2 179462347 179462347 C T rs72646832 TTN Synonymous SNV Q10089Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.19 42277 chr13 52730259 52730259 T A rs17482764 NEK3 Nonsynonymous SNV H23L 0.029 0.029 0.027 14 34 11 0.036 8 1 0 0 0 22.6 42278 chr2 138759649 138759649 C T rs11558538 HNMT Nonsynonymous SNV T105I 0.123 0.099 0.082 51 144 38 0.131 24 3 2 0 4 risk factor 28.3 42279 chr5 179020622 179020622 T C rs4701135 RUFY1 Synonymous SNV N355N 0.093 0.078 0.112 30 109 30 0.077 33 2 1 1 0 0.089 42280 chr13 52971687 52971687 A G rs149590732 THSD1 Nonsynonymous SNV I234T 0 0 0 0 0 0 0 0 0 0 0 0 22.2 42281 chr2 187627337 187627337 G A rs17855087 FAM171B Synonymous SNV E756E 0.032 0.042 0.014 17 38 16 0.044 4 0 1 0 0 5.171 42282 chr5 179025789 179025789 G A rs72824522 RUFY1 Synonymous SNV R468R 0.092 0.078 0.109 28 108 30 0.072 32 2 1 1 0 4.115 42283 chr2 179470047 179470047 C A rs2303833 TTN-AS1 0.036 0.013 0.014 12 42 5 0.031 4 0 0 0 0 Benign 0.159 42284 chr2 18766123 18766123 C T rs61742608 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV R129Q 0.021 0.023 0.01 6 25 9 0.015 3 0 0 0 0 8.954 42285 chr2 141242918 141242918 T C rs34488772 LRP1B Nonsynonymous SNV Q3140R 0.042 0.057 0.027 17 49 22 0.044 8 0 1 0 1 0.007 42286 chr2 179485946 179485946 C T rs183245562 TTN Nonsynonymous SNV V6102I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.732 42287 chr2 215818664 215818664 A G ABCA12 Synonymous SNV G1869G 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 4.433 42288 chr2 18766156 18766156 G T rs61742596 NT5C1B, NT5C1B-RDH14 Stop gain S118X 0.02 0.018 0.003 7 23 7 0.018 1 0 0 0 0 36 42289 chr2 141245204 141245204 T C rs74789055 LRP1B Synonymous SNV L3075L 0.043 0.057 0.02 15 50 22 0.038 6 0 1 0 1 7.958 42290 chr2 179528378 179528378 C T rs2163008 TTN Nonsynonymous SNV E12170K 0.072 0.049 0.041 27 85 19 0.069 12 0 0 1 1 Benign 21.9 42291 chr5 179264694 179264694 G A rs61742526 MRNIP Synonymous SNV D188D 0.03 0.026 0.048 12 35 10 0.031 14 1 0 1 0 Likely benign 2.687 42292 chr2 159477867 159477867 A C rs112896220 PKP4 Synonymous SNV S179S 0.028 0.031 0.02 10 33 12 0.026 6 0 0 0 0 4.88 42293 chr2 189449071 189449071 C T rs537795313 GULP1 Nonsynonymous SNV S127L 0.008 0 0 1 9 0 0.003 0 0 0 0 0 14.46 42294 chr2 159517871 159517871 C T rs140419507 PKP4 Nonsynonymous SNV A707V 0.011 0.003 0.007 0 13 1 0 2 1 0 0 0 23.7 42295 chr2 203765756 203765756 T C rs35212307 WDR12 Nonsynonymous SNV I75V 0.124 0.143 0.129 49 146 55 0.126 38 5 5 8 3 15.63 42296 chr13 70413291 70413291 A G rs41283972 KLHL1 Synonymous SNV L350L 0.032 0.047 0.024 14 38 18 0.036 7 1 0 0 1 2.72 42297 chr2 190571776 190571776 A G rs16831887 ANKAR Nonsynonymous SNV I675V 0.032 0.018 0.061 20 38 7 0.051 18 0 0 0 2 12.72 42298 chr2 179571448 179571448 A G rs4893852 TTN Nonsynonymous SNV I8474T 0.032 0.026 0.017 12 38 10 0.031 5 0 0 0 0 Benign/Likely benign 21.5 42299 chr2 203846817 203846817 A T rs72932557 CARF Nonsynonymous SNV Y227F 0.125 0.143 0.177 49 147 55 0.126 52 5 5 8 3 1.747 42300 chr5 179287208 179287209 GT - rs796282862 LOC100996419 0 0 0.037 0 0 0 0 11 0 0 0 0 42301 chr5 179287576 179287576 C G rs248254 LOC100996419 0 0 0.527 0 0 0 0 155 0 0 44 0 7.835 42302 chr2 203990789 203990789 T G rs72934556 NBEAL1 Synonymous SNV V957V 0.112 0.125 0.177 44 131 48 0.113 52 4 4 8 1 5.471 42303 chr2 179577870 179577870 T C rs61232800 TTN Synonymous SNV T7753T 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign/Likely benign 0.225 42304 chr5 179287585 179287585 G C rs416974 LOC100996419 0 0 0.48 0 0 0 0 141 0 0 36 0 1.752 42305 chr2 179578704 179578704 G A rs13398235 TTN Nonsynonymous SNV P7650L 0.032 0.023 0.017 11 37 9 0.028 5 0 0 0 0 Benign/Likely benign 16.86 42306 chr5 179287586 179287586 C T rs378684 LOC100996419 0 0 0.497 0 0 0 0 146 0 0 40 0 0.087 42307 chr5 179287622 179287622 - TA rs1611076 LOC100996419 0 0 0.483 0 0 0 0 142 0 0 36 0 42308 chr2 189932764 189932764 G A rs35830636 COL5A2 Nonsynonymous SNV P460S 0.02 0.008 0.007 8 23 3 0.021 2 0 0 0 0 Benign/Likely benign 24.6 42309 chr2 190620216 190620216 C T rs75321854 OSGEPL1 Nonsynonymous SNV A109T 0.032 0.018 0.061 20 37 7 0.051 18 0 0 0 2 16.49 42310 chr13 73409508 73409508 - A rs200683940 PIBF1 0.138 0.133 0.092 62 162 51 0.159 27 32 15 5 9 42311 chr2 179586779 179586779 A G rs16866469 TTN Synonymous SNV H6293H 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign/Likely benign 0.01 42312 chr2 217498290 217498290 - GCCGCTGCT rs11282764 IGFBP2 L21_L22insPLL 0.288 0.263 0.034 130 338 101 0.333 10 164 49 5 64 42313 chr2 179598399 179598399 C T rs72648932 TTN Synonymous SNV T3995T 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign/Likely benign 14.53 42314 chr2 204309672 204309672 T A rs148828724 RAPH1 Synonymous SNV G565G 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.26 42315 chr12 101679658 101679658 G A rs78440807 UTP20 Nonsynonymous SNV D109N 0.032 0.029 0.027 8 38 11 0.021 8 0 1 0 0 24.4 42316 chr2 179605843 179605843 G A rs55895721 TTN Synonymous SNV P3676P 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 0.291 42317 chr2 1520659 1520659 C T rs367751257 TPO Synonymous SNV S797S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.52 42318 chr2 179610695 179610695 C T rs72648915 TTN Nonsynonymous SNV V5478M 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 0.011 42319 chr2 206305156 206305156 C T rs10185378 PARD3B Nonsynonymous SNV T866I 0.065 0.065 0.116 21 76 25 0.054 34 1 0 1 0 4.558 42320 chr2 179611680 179611680 G A rs72648911 TTN Synonymous SNV Y5149Y 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign 0.107 42321 chr2 179611851 179611851 C T rs72648910 TTN Synonymous SNV L5092L 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 1.34 42322 chr2 160604372 160604372 A G rs149252951 MARCHF7 Nonsynonymous SNV M135V 0.038 0.023 0.017 10 45 9 0.026 5 2 0 0 0 0.001 42323 chr2 179611875 179611875 A G rs61233923 TTN Synonymous SNV Y5084Y 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 7.347 42324 chr2 152139416 152139416 G A rs1048135 NMI Nonsynonymous SNV S16L 0.143 0.104 0.228 59 168 40 0.151 67 64 11 13 19 1.133 42325 chr2 108910718 108910718 T C rs139281019 SULT1C2 Nonsynonymous SNV I62T 0.006 0.016 0 5 7 6 0.013 0 0 0 0 0 25.4 42326 chr2 179613147 179613147 G C rs75785339 TTN Nonsynonymous SNV H4660Q 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 1.339 42327 chr2 1926617 1926617 G A rs2241686 MYT1L Synonymous SNV N308N 0.026 0.031 0.041 15 30 12 0.038 12 0 0 1 0 0.06 42328 chr2 179613258 179613258 A C rs72648906 TTN Synonymous SNV S4623S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 14.69 42329 chr2 191301640 191301640 C T rs113040578 MFSD6 Synonymous SNV V295V 0.032 0.016 0.014 5 37 6 0.013 4 0 0 0 0 Benign 9.982 42330 chr2 179613962 179613962 C T rs72648903 TTN Nonsynonymous SNV V4389I 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 1.553 42331 chr2 109103012 109103012 C T rs41280574 GCC2 Nonsynonymous SNV H1280Y 0.009 0.021 0.01 3 11 8 0.008 3 1 0 0 0 22.7 42332 chr2 207012483 207012483 A G rs11548670 NDUFS1 Synonymous SNV D27D 0.034 0.016 0.037 9 40 6 0.023 11 0 0 0 0 Benign/Likely benign 4.918 42333 chr2 218765273 218765273 T C rs115697455 MIR6809 0.01 0.005 0.027 4 12 2 0.01 8 0 0 0 0 3.58 42334 chr2 1926488 1926488 C T rs13399855 MYT1L Synonymous SNV P351P 0.021 0.016 0.017 8 25 6 0.021 5 0 0 0 0 6.098 42335 chr2 179621353 179621353 G A rs57389274 TTN Nonsynonymous SNV S3446F 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 18.52 42336 chr2 152387592 152387592 G A rs149510427 NEB Synonymous SNV N5481N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 11.64 42337 chr5 180551937 180551937 C T rs10073017 OR2V1 Nonsynonymous SNV R123H 0.106 0.076 0.129 38 125 29 0.097 38 3 4 1 4 24 42338 chr2 197577448 197577448 T C rs80183667 CCDC150 Synonymous SNV D617D 0.032 0.031 0.054 16 38 12 0.041 16 0 0 2 1 0.002 42339 chr5 180582257 180582260 TGTC - rs140598308 OR2V2 C107Lfs*30 0.118 0.086 0.105 33 138 33 0.085 31 8 2 2 2 42340 chr2 196801368 196801368 T C rs757326456 DNAH7 Nonsynonymous SNV N1076S 0.003 0 0 0 4 0 0 0 0 0 0 0 26.1 42341 chr2 162751233 162751233 G A rs61748241 SLC4A10 Synonymous SNV L334L 0.014 0.008 0.003 0 16 3 0 1 1 0 0 0 10.77 42342 chr12 105385577 105385577 G A rs199516315 C12orf45 Nonsynonymous SNV R97H 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 0.107 42343 chr2 179641360 179641360 G A rs75686037 TTN Nonsynonymous SNV P1698L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.29 42344 chr5 1878212 1878212 G A rs2279589 IRX4 Synonymous SNV G477G 0.12 0.099 0.075 41 141 38 0.105 22 15 2 0 5 6.541 42345 chr2 198950029 198950029 A G rs2228135 PLCL1 Synonymous SNV Q596Q 0.172 0.185 0.214 75 202 71 0.192 63 16 5 6 7 0.087 42346 chr2 152520270 152520270 A C rs144180493 NEB Nonsynonymous SNV M1852R 0.009 0.01 0 0 10 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 42347 chr5 21760731 21760731 T C rs2303749 CDH12 Synonymous SNV Q299Q 0.105 0.094 0.092 38 123 36 0.097 27 1 4 2 2 4.147 42348 chr2 111551708 111551708 C T rs201819575 ACOXL Nonsynonymous SNV A101V 0 0.01 0 3 0 4 0.008 0 0 0 0 0 16.28 42349 chr5 21817206 21817206 T C rs17328673 CDH12 Nonsynonymous SNV I60V 0.068 0.039 0.051 19 80 15 0.049 15 2 0 0 0 0.112 42350 chr2 197954717 197954717 G A rs35539834 ANKRD44 Synonymous SNV A380A 0.016 0.013 0.024 8 19 5 0.021 7 0 0 0 0 13.23 42351 chr5 21842436 21842436 A G rs17839323 CDH12 Synonymous SNV G216G 0.089 0.081 0.082 39 104 31 0.1 24 1 1 0 3 9.11 42352 chr5 22078584 22078584 C T rs4371716 CDH12 Nonsynonymous SNV V68M 0.273 0.276 0.252 117 320 106 0.3 74 42 16 9 13 22.2 42353 chr2 20845206 20845206 C T rs535174101 HS1BP3 Nonsynonymous SNV R31Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 42354 chr5 23976115 23976115 G A rs1501940 C5orf17 0 0 0.616 0 0 0 0 181 0 0 59 0 3.064 42355 chr5 2755191 2755191 G C rs76652220 C5orf38 Nonsynonymous SNV G128R 0.108 0.096 0.136 29 127 37 0.074 40 6 1 1 2 4.461 42356 chr2 180810361 180810361 T A rs11903115 CWC22 Nonsynonymous SNV D741V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 22.6 42357 chr2 219695487 219695487 G C rs692243 PRKAG3 Nonsynonymous SNV P71A 0.17 0.151 0.143 71 200 58 0.182 42 18 6 5 8 2.736 42358 chr2 219825211 219825211 G A rs36115038 CDK5R2 Synonymous SNV Q223Q 0.032 0.031 0.02 11 37 12 0.028 6 0 0 0 0 5.795 42359 chr13 99115965 99115965 C G rs55640122 STK24 Synonymous SNV S284S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 42360 chr2 220087441 220087441 T C rs2276635 ATG9A Nonsynonymous SNV S592G 0.112 0.115 0.146 42 132 44 0.108 43 7 3 4 4 6.318 42361 chr5 31799522 31799522 C T rs145138976 PDZD2 Nonsynonymous SNV T56M 0.013 0.003 0.02 5 15 1 0.013 6 0 0 0 0 10.99 42362 chr13 99532921 99532921 C A rs61998238 DOCK9 Synonymous SNV A918A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.35 42363 chr2 201460064 201460064 G A rs768782250 AOX1 Nonsynonymous SNV R58Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 42364 chr2 220100787 220100787 C T rs2293079 ANKZF1 Nonsynonymous SNV P466L 0.181 0.193 0.143 54 212 74 0.138 42 16 7 2 5 1.761 42365 chr5 32058162 32058162 C A rs144128749 PDZD2 Nonsynonymous SNV T718N 0.026 0.021 0.01 10 30 8 0.026 3 1 0 0 1 19.37 42366 chr13 100425097 100425097 G T rs17577293 CLYBL Nonsynonymous SNV D28Y 0.029 0.021 0.017 14 34 8 0.036 5 1 0 0 1 19.65 42367 chr2 201778717 201778717 - A rs201460825 ORC2 0.056 0.07 0.16 39 66 27 0.1 47 6 3 2 4 42368 chr5 32074529 32074529 C T rs34748216 PDZD2 Nonsynonymous SNV S1106F 0.023 0.01 0.024 2 27 4 0.005 7 0 0 0 0 23.3 42369 chr2 182780874 182780874 C T rs17647806 ITPRID2 Nonsynonymous SNV P683L 0.036 0.036 0.075 20 42 14 0.051 22 0 0 2 0 23.3 42370 chr2 167262169 167262169 T C rs35344714 SCN7A Nonsynonymous SNV D1657G 0.129 0.13 0.15 59 151 50 0.151 44 13 2 2 5 0.686 42371 chr5 32089822 32089822 C T rs114875003 PDZD2 Synonymous SNV L2090L 0.024 0.01 0.024 2 28 4 0.005 7 0 0 0 0 9.553 42372 chr2 167262353 167262353 C G rs3791251 SCN7A Nonsynonymous SNV V1596L 0.129 0.13 0.156 59 151 50 0.151 46 13 2 2 5 2.157 42373 chr2 220162015 220162015 C G rs17847406 PTPRN Synonymous SNV P647P 0.121 0.159 0.102 43 142 61 0.11 30 4 7 2 3 7.13 42374 chr2 167262939 167262939 A G rs33953730 SCN7A Synonymous SNV Y1400Y 0.129 0.133 0.156 59 152 51 0.151 46 13 2 2 5 0.246 42375 chr2 11351865 11351865 T C rs55932113 ROCK2 Synonymous SNV L629L 0.03 0.029 0.048 11 35 11 0.028 14 1 0 0 0 5.752 42376 chr2 167269629 167269629 T G rs33922582 SCN7A Synonymous SNV A1139A 0.129 0.133 0.129 59 152 51 0.151 38 13 2 2 5 13.04 42377 chr2 202074207 202074207 A G rs17860405 CASP10 Nonsynonymous SNV Y379C 0.016 0.029 0.027 4 19 11 0.01 8 0 0 0 0 Benign 14.89 42378 chr2 220197424 220197424 C T rs2385403 RESP18 Synonymous SNV P18P 0.186 0.203 0.231 87 218 78 0.223 68 24 12 9 13 12.31 42379 chr2 159514812 159514812 G A rs8272 PKP4 Synonymous SNV T693T 0.031 0.042 0.037 13 36 16 0.033 11 0 0 0 0 11.41 42380 chr2 167992482 167992482 G A rs114147582 XIRP2 Nonsynonymous SNV E158K 0.046 0.031 0.027 20 54 12 0.051 8 1 0 0 0 Benign 8.2 42381 chr2 159517857 159517857 C T rs9459 PKP4 Synonymous SNV S702S 0.031 0.042 0.037 13 36 16 0.033 11 0 0 0 0 16.22 42382 chr5 33998768 33998768 C A rs34677 AMACR Nonsynonymous SNV V186F 0.129 0.125 0.092 44 152 48 0.113 27 12 5 0 3 Benign 23.3 42383 chr2 202149589 202149589 G C rs1045485 CASP8 Nonsynonymous SNV D270H 0.098 0.12 0.133 35 115 46 0.09 39 8 1 2 2 Benign 0.323 42384 chr2 168103950 168103950 T C rs116578731 XIRP2 Synonymous SNV V1794V 0.018 0 0.01 3 21 0 0.008 3 0 0 0 0 Benign 0.003 42385 chr2 202154200 202154200 C T rs17468277 FLACC1 Synonymous SNV T374T 0.097 0.12 0.133 35 114 46 0.09 39 8 1 2 2 Benign 11.85 42386 chr2 113765587 113765587 A T rs34817588 IL36A Nonsynonymous SNV N148I 0.029 0.026 0.017 5 34 10 0.013 5 3 0 0 0 8.381 42387 chr2 160035542 160035542 A G rs116667130 TANC1 Nonsynonymous SNV Q592R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 25 42388 chr5 34840841 34840841 A G rs6451173 TTC23L Nonsynonymous SNV H31R 0.525 0.523 0.575 187 616 201 0.479 169 164 51 47 44 0.003 42389 chr2 160035552 160035552 C T rs62171128 TANC1 Synonymous SNV D595D 0.043 0.049 0.027 17 51 19 0.044 8 1 1 0 1 12 42390 chr2 211179766 211179766 T - rs751314196 MYL1 Star tloss M1? 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 42391 chr5 34998877 34998877 C A rs16899974 AGXT2 Nonsynonymous SNV V423L 0.245 0.297 0.194 89 288 114 0.228 57 38 18 7 9 10.39 42392 chr12 109863835 109863835 C T rs201661146 MYO1H Nonsynonymous SNV P588S 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 25.7 42393 chr2 11389907 11389907 C T rs41264193 ROCK2 Synonymous SNV S28S 0.03 0.029 0.041 11 35 11 0.028 12 1 0 0 0 14.6 42394 chr2 211539650 211539650 G A rs140578009 CPS1 Nonsynonymous SNV G1376S 0.047 0.052 0.031 19 55 20 0.049 9 2 0 0 0 Benign 23.2 42395 chr2 202939836 202939836 G C rs16838742 KIAA2012 Nonsynonymous SNV D103H 0.086 0.094 0.085 39 101 36 0.1 25 4 2 1 2 11.96 42396 chr5 35037115 35037115 C T rs37369 AGXT2 Nonsynonymous SNV V140I 0.077 0.06 0.102 41 90 23 0.105 30 3 1 2 1 Affects 0.02 42397 chr2 113993073 113993073 A G rs3188996 PAX8 Nonsynonymous SNV F329L 0.009 0.016 0 1 11 6 0.003 0 1 0 0 0 Likely benign 15.46 42398 chr13 103388880 103388880 T C rs17592459 CCDC168 Nonsynonymous SNV M4723V 0.043 0.049 0.058 18 50 19 0.046 17 0 0 0 0 0.001 42399 chr2 220361782 220361787 TCAACG - rs528548877 SPEGNB N128_V129del 0.022 0.021 0.01 5 26 8 0.013 3 0 0 0 0 42400 chr5 35039437 35039437 A G rs2279651 AGXT2 Synonymous SNV H118H 0.617 0.672 0.565 261 724 258 0.669 166 217 87 49 85 5.897 42401 chr2 202974360 202974360 T G rs12615065 KIAA2012 Nonsynonymous SNV V500G 0.218 0.237 0.197 101 256 91 0.259 58 32 15 6 16 0.003 42402 chr2 11426734 11426734 T C rs56070302 ROCK2 Synonymous SNV L85L 0.03 0.029 0.037 11 35 11 0.028 11 1 0 0 0 1.367 42403 chr2 114500349 114500349 C T rs150656361 SLC35F5 Nonsynonymous SNV E218K 0.009 0.016 0.003 4 11 6 0.01 1 0 0 0 0 20.6 42404 chr5 35641591 35641591 G A rs34307272 SPEF2 Nonsynonymous SNV G74S 0.02 0.034 0.014 6 23 13 0.015 4 0 0 0 1 27.1 42405 chr2 160599717 160599717 C G rs17813964 MARCHF7 Nonsynonymous SNV T62S 0.048 0.076 0.048 22 56 29 0.056 14 2 0 1 0 12.94 42406 chr2 203817364 203817364 T C CARF Nonsynonymous SNV I42T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 42407 chr5 35659239 35659239 G A rs16902381 SPEF2 Nonsynonymous SNV R366K 0.02 0.034 0.014 6 23 13 0.015 4 0 0 0 1 24.8 42408 chr2 160673519 160673519 G A rs35941588 LY75, LY75-CD302 Nonsynonymous SNV T1393I 0.033 0.06 0.041 13 39 23 0.033 12 1 0 1 0 16.64 42409 chr5 35692775 35692775 T A rs7710284 SPEF2 Nonsynonymous SNV N616K 0.112 0.117 0.122 48 131 45 0.123 36 12 2 4 2 Benign 0.091 42410 chr2 203972506 203972506 A G rs557628000 NBEAL1 Nonsynonymous SNV N486S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 42411 chr2 170063372 170063372 A T rs140918583 LRP2 Nonsynonymous SNV F2286L 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.51 42412 chr2 203980768 203980768 A C rs2086833 NBEAL1 Nonsynonymous SNV N827T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 22.8 42413 chr12 110429480 110429480 G T rs141039444 GIT2 Synonymous SNV S46S 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 10.98 42414 chr5 35727857 35727857 G A rs115170604 SPEF2 Nonsynonymous SNV A999T 0.02 0.034 0.014 6 24 13 0.015 4 0 0 0 1 14.35 42415 chr2 170147502 170147502 C G rs34693334 LRP2 Nonsynonymous SNV G259R 0.089 0.081 0.071 39 104 31 0.1 21 6 1 1 2 Benign 10.32 42416 chr2 220422653 220422653 G T rs766007675 OBSL1 Synonymous SNV R1228R 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 11.13 42417 chr13 103443665 103443665 T C rs141519999 POGLUT2 Nonsynonymous SNV K263R 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 0.871 42418 chr2 204732714 204732714 A G rs231775 CTLA4 Nonsynonymous SNV T17A 0.272 0.26 0.279 123 319 100 0.315 82 35 11 9 22 Benign 0.003 42419 chr2 170356027 170356027 A T BBS5 Nonsynonymous SNV D238V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 42420 chr2 162904013 162904013 T C rs116302758 DPP4 0.026 0.016 0.024 6 30 6 0.015 7 0 0 0 0 17.3 42421 chr5 37181017 37181017 T C rs76245173 CPLANE1 Nonsynonymous SNV T1838A 0.004 0.01 0.027 4 5 4 0.01 8 0 0 0 0 Benign/Likely benign 0.001 42422 chr2 220470710 220470710 G A rs149218768 STK11IP Nonsynonymous SNV D260N 0.016 0.018 0.007 4 19 7 0.01 2 0 0 0 0 32 42423 chr5 37182969 37182969 T C rs79377186 CPLANE1 Nonsynonymous SNV S1772G 0.004 0.01 0.027 4 5 4 0.01 8 0 0 0 0 Benign/Likely benign 12.11 42424 chr2 206480393 206480393 C T rs17682782 PARD3B Synonymous SNV D1089D 0.101 0.083 0.116 40 119 32 0.103 34 8 1 0 2 11.77 42425 chr2 171225745 171225745 G C MYO3B Nonsynonymous SNV D277H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 29.2 42426 chr5 37195976 37195976 A T rs74478954 CPLANE1 Synonymous SNV V1265V 0.004 0.01 0.027 4 5 4 0.01 8 0 0 0 0 Benign/Likely benign 4.318 42427 chr5 37721219 37721219 T C rs61748201 WDR70 Synonymous SNV S451S 0.009 0.005 0.034 2 11 2 0.005 10 0 0 0 0 11.45 42428 chr5 37875770 37875770 T A rs6879269 GDNF-AS1 0.036 0.029 0.048 11 42 11 0.028 14 1 0 0 0 6.671 42429 chr5 38486008 38486008 T C rs148664975 LIFR Nonsynonymous SNV K804E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 42430 chr2 120358804 120358804 G A rs55809171 CFAP221 Synonymous SNV P214P 0.047 0.07 0.041 14 55 27 0.036 12 1 0 0 0 9.441 42431 chr2 222294691 222294691 T A EPHA4 Nonsynonymous SNV T842S 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 0.505 42432 chr13 110435293 110435293 C T IRS2 Synonymous SNV P1036P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.385 42433 chr2 207041933 207041933 T C rs3755227 GPR1 Synonymous SNV E13E 0.161 0.148 0.173 57 189 57 0.146 51 19 7 4 3 0.015 42434 chr5 40964885 40964885 A T rs60714178 C7 Nonsynonymous SNV T598S 0.103 0.138 0.136 44 121 53 0.113 40 5 4 3 2 1.465 42435 chr2 172188368 172188368 C T rs13023973 METTL8 Synonymous SNV P177P 0.228 0.247 0.269 106 268 95 0.272 79 41 12 11 14 15.9 42436 chr2 217285104 217285104 C G rs2066522 SMARCAL1 Nonsynonymous SNV S315R 0.022 0.01 0.034 11 26 4 0.028 10 1 0 0 0 Benign/Likely benign 13.75 42437 chr2 224856650 224856650 G A rs6712954 SERPINE2 Synonymous SNV N185N 0.112 0.12 0.102 32 132 46 0.082 30 6 1 0 1 12.19 42438 chr5 41054934 41054934 A G rs325874 MROH2B Synonymous SNV L348L 0.197 0.229 0.204 72 231 88 0.185 60 22 11 4 9 14.55 42439 chr2 121106850 121106850 C T rs4328642 INHBB Synonymous SNV H208H 0.036 0.031 0.027 11 42 12 0.028 8 0 0 2 0 1.063 42440 chr2 172691260 172691260 C T rs35881803 SLC25A12 Nonsynonymous SNV R243K 0.015 0.013 0.014 2 18 5 0.005 4 0 0 0 0 Benign 18.1 42441 chr2 167138320 167138320 - A rs35888674 SCN9A 0.09 0.107 0.082 34 106 41 0.087 24 3 2 0 1 42442 chr5 41061715 41061715 C T rs1023840 MROH2B Stop gain W191X 0.208 0.156 0.156 78 244 60 0.2 46 23 4 2 7 36 42443 chr12 114383659 114383659 C T rs62621126 RBM19 Nonsynonymous SNV A534T 0.028 0.036 0.044 14 33 14 0.036 13 2 0 1 0 18.87 42444 chr13 111109576 111109576 G C rs9521780 COL4A2-AS2 Nonsynonymous SNV Q166E 0.078 0.094 0.061 37 91 36 0.095 18 26 7 5 11 1.239 42445 chr13 111109618 111109618 G C rs9515216 COL4A2-AS2 Nonsynonymous SNV Q152E 0.099 0.109 0.167 42 116 42 0.108 49 35 8 18 14 0.461 42446 chr2 227872812 227872812 C T rs200639109 COL4A4 Synonymous SNV A1577A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 17.03 42447 chr2 175202199 175202199 A G rs368984751 SP9 Synonymous SNV A462A 0.031 0.029 0.041 15 36 11 0.038 12 3 1 1 0 Likely benign 2.991 42448 chr2 122005803 122005803 C T rs866461260 TFCP2L1 Synonymous SNV P147P 0 0.005 0 0 0 2 0 0 0 0 0 0 19.92 42449 chr5 43066774 43066774 T C rs316408 LOC100132356 0 0 0.837 0 0 0 0 246 0 0 103 0 3.244 42450 chr2 20818840 20818840 C T rs34708707 HS1BP3 Synonymous SNV P362P 0.05 0.042 0.034 24 59 16 0.062 10 2 0 0 0 15.93 42451 chr2 218758200 218758200 T G rs61745748 TNS1 Nonsynonymous SNV N102H 0.013 0.016 0.024 8 15 6 0.021 7 1 0 0 0 26.2 42452 chr2 176829117 176829117 G C rs34897061 LNPK Nonsynonymous SNV T36S 0.021 0.021 0.031 13 25 8 0.033 9 0 0 1 0 14.07 42453 chr5 447779 447779 C A rs72717434 EXOC3 Synonymous SNV T92T 0.025 0.013 0.024 9 29 5 0.023 7 2 0 1 0 17.27 42454 chr5 44809446 44809446 G C rs61754779 MRPS30 Nonsynonymous SNV E128Q 0.017 0.016 0.01 0 20 6 0 3 0 0 0 0 3.736 42455 chr5 472951 472951 T C rs890974 PP7080 0 0 0.412 0 0 0 0 121 0 0 32 0 0.001 42456 chr2 176945012 176945012 G A rs1868101 EVX2 Synonymous SNV G418G 0.034 0.031 0.044 19 40 12 0.049 13 13 4 3 5 8.032 42457 chr5 473368 473368 G A rs34674918 SLC9A3-AS1 0.049 0.07 0.194 31 58 27 0.079 57 25 13 19 13 8.092 42458 chr12 120636498 120636498 G A rs138718343 RPLP0 Synonymous SNV S170S 0.015 0.01 0.003 4 18 4 0.01 1 0 0 0 0 11.49 42459 chr2 131486765 131486765 C G rs80008074 GPR148 Nonsynonymous SNV A14G 0.053 0.044 0.031 28 62 17 0.072 9 2 0 0 0 9.696 42460 chr2 131520945 131520945 C G rs72854996 AMER3 Nonsynonymous SNV L434V 0.044 0.029 0.027 20 52 11 0.051 8 1 0 0 0 0.001 42461 chr2 209190632 209190632 T G rs999890 PIKFYVE Nonsynonymous SNV S1033A 0.138 0.122 0.153 59 162 47 0.151 45 8 3 4 3 Benign 0.002 42462 chr2 179325735 179325735 C G rs17304212 PJVK Nonsynonymous SNV R267G 0.079 0.096 0.082 28 93 37 0.072 24 7 3 0 0 Conflicting interpretations of pathogenicity 23.4 42463 chr12 120907309 120907309 T A rs145350287 SRSF9 Nonsynonymous SNV Y35F 0.02 0.039 0.02 9 23 15 0.023 6 0 0 0 0 21.8 42464 chr2 231036860 231036860 C T rs3948463 SP110 Nonsynonymous SNV M579I 0.118 0.138 0.105 62 138 53 0.159 31 9 6 1 4 Benign 8.842 42465 chr2 209190649 209190649 A G rs999891 PIKFYVE Synonymous SNV R1038R 0.138 0.122 0.153 59 162 47 0.151 45 8 3 4 3 Benign 1.078 42466 chr2 179408965 179408965 G A rs375176758 TTN Synonymous SNV S22932S 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 3.918 42467 chr2 231037616 231037616 A G rs35495464 SP110 Synonymous SNV G550G 0.118 0.138 0.105 62 138 53 0.159 31 9 6 1 4 Benign 1.116 42468 chr2 179424048 179424048 T C rs55972010 TTN Synonymous SNV V19872V 0.021 0.029 0.014 1 25 11 0.003 4 0 0 0 0 Benign/Likely benign 4.593 42469 chr2 219677690 219677690 A G rs61733619 CYP27A1 Synonymous SNV Q296Q 0.03 0.031 0.017 21 35 12 0.054 5 2 1 0 1 Benign 0.068 42470 chr2 219824731 219824731 G C rs78141300 CDK5R2 Synonymous SNV A63A 0.032 0.036 0.027 13 37 14 0.033 8 1 0 0 1 10.16 42471 chr13 114107571 114107571 A G rs138029763 ADPRHL1 Nonsynonymous SNV M61T 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 26.2 42472 chr2 219824992 219824992 G T rs75803206 CDK5R2 Synonymous SNV S150S 0.03 0.034 0.024 12 35 13 0.031 7 1 0 0 1 5.839 42473 chr2 209307104 209307104 C T rs61744730 PTH2R Nonsynonymous SNV R32C 0.018 0.029 0.02 14 21 11 0.036 6 0 1 0 0 29.7 42474 chr5 53815560 53815560 A C rs13162502 SNX18 Nonsynonymous SNV K593T 0.25 0.281 0.197 99 293 108 0.254 58 34 13 4 10 2.602 42475 chr2 21266775 21266783 GCAGCGCCA - rs17240441 APOB L12_L14del 0.061 0.099 0.082 38 72 38 0.097 24 15 10 6 7 42476 chr2 231077110 231077110 C T rs9061 SP110 Nonsynonymous SNV E207K 0.129 0.156 0.126 56 151 60 0.144 37 12 6 2 2 Benign 11.56 42477 chr2 210798716 210798716 C T rs76521176 UNC80 Synonymous SNV T1989T 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Benign 14.56 42478 chr2 214794743 214794743 A C rs12623569 SPAG16 Nonsynonymous SNV K425T 0.289 0.276 0.282 129 339 106 0.331 83 46 16 18 22 11.99 42479 chr2 231077676 231077676 G A rs11556887 SP110 Nonsynonymous SNV A128V 0.126 0.156 0.126 56 148 60 0.144 37 11 6 2 2 Benign 15.74 42480 chr2 179613651 179613651 G A rs72648904 TTN Synonymous SNV D4492D 0.044 0.044 0.054 17 52 17 0.044 16 2 2 0 1 Benign 4.34 42481 chr2 231110582 231110582 C T rs28445040 SP140 Synonymous SNV S223S 0.209 0.219 0.17 80 245 84 0.205 50 22 15 5 6 7.927 42482 chr5 54466544 54466544 A G rs10061133 MIR449B 0 0 0.139 0 0 0 0 41 0 0 5 0 14.26 42483 chr5 5447607 5447607 A G rs4702269 ICE1 Synonymous SNV E164E 0.029 0.023 0.044 20 34 9 0.051 13 1 0 0 0 10.3 42484 chr2 215835021 215835021 G C ABCA12 Nonsynonymous SNV T1571S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 42485 chr5 5462607 5462607 A G rs3806873 ICE1 Nonsynonymous SNV T1054A 0.031 0.023 0.044 21 36 9 0.054 13 1 0 0 0 0.005 42486 chr2 175202175 175202189 GGCGGCGGCAGCGGC - rs778817750 SP9 A466_A470del 0.009 0.003 0.02 4 10 1 0.01 6 0 0 1 0 42487 chr5 5462620 5462620 G A rs3806874 ICE1 Nonsynonymous SNV G1058D 0.031 0.023 0.044 20 36 9 0.051 13 1 0 0 0 6.246 42488 chr5 5489383 5489383 G A rs16900247 ICE1 Synonymous SNV P2247P 0.013 0.005 0.034 7 15 2 0.018 10 1 0 0 0 7.954 42489 chr12 121613229 121613229 G A rs28360457 P2RX7 Nonsynonymous SNV R307Q 0.019 0.023 0.01 11 22 9 0.028 3 1 0 0 0 Benign 35 42490 chr5 55062764 55062764 T C rs13181170 DDX4 Nonsynonymous SNV S3P 0.227 0.232 0.238 88 266 89 0.226 70 33 9 4 12 1.531 42491 chr5 55081694 55081694 A G rs2305123 DDX4 Nonsynonymous SNV I138V 0.123 0.128 0.133 46 144 49 0.118 39 11 2 0 3 22.9 42492 chr2 176944852 176944852 C T rs368732107 EVX2 Nonsynonymous SNV A472T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 42493 chr12 121615131 121615131 C G rs2230911 P2RX7 Nonsynonymous SNV T357S 0.043 0.052 0.054 14 51 20 0.036 16 1 1 0 2 22.6 42494 chr5 55082474 55082474 C T rs957459 DDX4 Synonymous SNV C182C 0.286 0.289 0.306 110 336 111 0.282 90 50 18 11 20 16.15 42495 chr2 232072929 232072929 C T rs35643982 ARMC9 Synonymous SNV G47G 0.038 0.042 0.027 11 45 16 0.028 8 1 0 0 1 16.98 42496 chr12 121622239 121622239 C T rs3751144 P2RX7 Synonymous SNV P474P 0.043 0.052 0.054 14 51 20 0.036 16 1 1 0 2 17.4 42497 chr2 220082504 220082504 C T rs150221689 ABCB6 Nonsynonymous SNV R192Q 0.008 0.026 0 8 9 10 0.021 0 0 0 0 0 Uncertain significance 35 42498 chr12 121622419 121622419 G T rs3751142 P2RX7 Synonymous SNV L534L 0.043 0.052 0.054 14 51 20 0.036 16 1 1 0 2 7.647 42499 chr5 55753652 55753652 C T rs16877004 LINC01948 0 0 0.218 0 0 0 0 64 0 0 7 0 7.021 42500 chr5 55760879 55760879 C T rs61190516 LINC01948 0 0 0.068 0 0 0 0 20 0 0 0 0 3.018 42501 chr2 136567477 136567477 G T rs374283033 LCT Synonymous SNV R814R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.197 42502 chr5 55807370 55807370 C T rs464605 C5orf67 0 0 0.718 0 0 0 0 211 0 0 75 0 5.795 42503 chr5 56242774 56242774 T C rs2034244 MIER3 Synonymous SNV S58S 0.262 0.263 0.333 113 308 101 0.29 98 44 13 20 14 6.612 42504 chr2 177054139 177054139 A G rs141997863 HOXD1 Nonsynonymous SNV T204A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.2 42505 chr2 233075081 233075081 C T rs17272089 DIS3L2 Synonymous SNV L390L 0.032 0.036 0.027 6 38 14 0.015 8 1 0 0 0 Benign/Likely benign 17.32 42506 chr2 178534282 178534282 A G PDE11A Nonsynonymous SNV V390A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.4 42507 chr2 179658175 179658175 C T rs72647851 TTN Nonsynonymous SNV V498I 0.037 0.034 0.02 15 44 13 0.038 6 2 2 0 1 Benign/Likely benign 21.1 42508 chr2 178592456 178592456 T C rs77597060 PDE11A Nonsynonymous SNV Y214C 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Uncertain significance 28.1 42509 chr2 233410294 233410294 C T rs2099489 CHRNG Synonymous SNV R474R 0.226 0.247 0.238 84 265 95 0.215 70 28 13 10 11 Benign 18.12 42510 chr2 178762824 178762824 T C rs71423514 PDE11A Synonymous SNV E63E 0.118 0.102 0.105 41 138 39 0.105 31 8 2 1 2 2.086 42511 chr2 233412820 233412820 A G rs4973539 TIGD1 Synonymous SNV D591D 0.221 0.242 0.044 83 259 93 0.213 13 28 13 3 11 2.24 42512 chr2 233537125 233537125 A G rs11550699 EFHD1 Nonsynonymous SNV K90R 0.231 0.193 0.279 98 271 74 0.251 82 34 7 10 11 8.724 42513 chr5 64925553 64925553 T A rs17830337 SHLD3 Nonsynonymous SNV S47T 0.087 0.081 0.085 25 102 31 0.064 25 5 0 1 0 2.637 42514 chr2 218695102 218695102 G A rs3796028 TNS1 Nonsynonymous SNV R1004W 0.283 0.294 0.272 110 332 113 0.282 80 49 14 10 22 13.12 42515 chr2 202508115 202508115 A C rs6736435 TMEM237 Synonymous SNV T3T 0.008 0.008 0.02 6 9 3 0.015 6 0 0 0 0 Benign 0.006 42516 chr2 143643059 143643059 C T rs16858205 KYNU Synonymous SNV H41H 0.003 0.013 0 4 4 5 0.01 0 0 0 0 0 Benign 9.705 42517 chr5 65321311 65321311 C T rs3213837 ERBIN Nonsynonymous SNV S274L 0.104 0.094 0.119 47 122 36 0.121 35 7 2 4 3 16.72 42518 chr5 6600064 6600064 G T rs61744358 NSUN2 Nonsynonymous SNV P725Q 0.083 0.086 0.048 29 98 33 0.074 14 3 1 1 2 Benign 7.556 42519 chr2 216251580 216251580 G A rs116558455 FN1 Nonsynonymous SNV R1391C 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 34 42520 chr2 180016104 180016104 G A rs757979382 SESTD1 Synonymous SNV S128S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.52 42521 chr2 218712886 218712886 - GCT rs780034157 TNS1 Q659_P660insQ 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 42522 chr2 220283592 220283592 C T rs111828114 DES Synonymous SNV L136L 0.049 0.063 0.031 14 58 24 0.036 9 0 0 0 0 Benign/Likely benign 17.68 42523 chr2 145162506 145162506 G A rs138859323 ZEB2 Synonymous SNV I139I 0.02 0.034 0.014 16 23 13 0.041 4 0 0 1 0 Benign/Likely benign 10.25 42524 chr2 220284876 220284876 C T rs41272699 DES Nonsynonymous SNV A213V 0.012 0.005 0.003 1 14 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 42525 chr12 122332729 122332729 G T rs779918992 PSMD9 Nonsynonymous SNV A75S 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 32 42526 chr5 66492402 66492402 G C CD180 Nonsynonymous SNV S23C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 42527 chr2 203139844 203139844 T C rs80282360 NOP58 Synonymous SNV N18N 0.13 0.104 0.075 40 153 40 0.103 22 11 2 3 2 4.43 42528 chr2 233899377 233899377 C T rs2233394 NEU2 Synonymous SNV D251D 0.089 0.112 0.068 43 104 43 0.11 20 4 2 0 3 8.932 42529 chr2 203155936 203155936 A C rs3731700 NOP58 Synonymous SNV S241S 0.131 0.104 0.099 40 154 40 0.103 29 9 2 3 2 3.403 42530 chr2 203421199 203421199 G A rs1061157 BMPR2 Synonymous SNV R937R 0.129 0.115 0.099 43 152 44 0.11 29 8 2 2 2 Benign 8.147 42531 chr2 220353532 220353532 C A rs13026308 SPEG Nonsynonymous SNV P2687T 0.123 0.12 0.15 46 144 46 0.118 44 11 3 2 4 27 42532 chr2 219209248 219209248 G A rs116144189 PNKD Synonymous SNV R289R 0.017 0.008 0.014 5 20 3 0.013 4 0 0 0 0 Benign 13.26 42533 chr2 234372897 234372897 C T rs149090615 DGKD Nonsynonymous SNV L1048F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.6 42534 chr2 218669288 218669288 G A rs61740054 TNS1 Nonsynonymous SNV T1680M 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 34 42535 chr2 17947886 17947886 G A rs116772931 GEN1 Nonsynonymous SNV S189N 0.017 0.013 0.017 5 20 5 0.013 5 0 0 0 0 1.585 42536 chr5 68715592 68715592 G A rs773244213 MARVELD2 Nonsynonymous SNV R127H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 42537 chr2 150438708 150438708 T G rs61750442 MMADHC Nonsynonymous SNV K29N 0.009 0.01 0.014 3 10 4 0.008 4 0 0 0 0 Benign/Likely benign 24.2 42538 chr2 219301981 219301981 C T rs141506332 VIL1 Synonymous SNV H702H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.02 42539 chr12 122667820 122667820 C T rs544375328 LRRC43 Synonymous SNV F43F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.97 42540 chr2 182850882 182850882 A G rs61732228 PPP1R1C Synonymous SNV V15V 0.039 0.052 0.034 19 46 20 0.049 10 2 1 0 0 7.023 42541 chr2 183616913 183616913 A C rs61748254 DNAJC10 Nonsynonymous SNV M471L 0.036 0.06 0.044 13 42 23 0.033 13 0 1 0 1 17.33 42542 chr12 122835688 122835688 T C rs117592229 CLIP1 Synonymous SNV Q457Q 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 9.5 42543 chr2 218750817 218750817 T C rs10211238 TNS1 Synonymous SNV P205P 0.121 0.107 0.167 66 142 41 0.169 49 12 2 6 7 0.212 42544 chr12 122958181 122958181 T C rs139379402 ZCCHC8 Nonsynonymous SNV M586V 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Benign 21.6 42545 chr2 183703147 183703147 C T rs138147194 FRZB Nonsynonymous SNV E263K 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.9 42546 chr2 206480486 206480486 T C rs56272619 PARD3B Synonymous SNV P1120P 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 0.422 42547 chr2 219205471 219205471 G A rs34014804 PNKD Synonymous SNV G138G 0.081 0.063 0.099 34 95 24 0.087 29 3 1 3 1 Benign 7.546 42548 chr2 206641240 206641243 CGCA - rs527478913 NRP2 H905Afs*34 0.07 0.076 0.078 17 82 29 0.044 23 1 2 0 0 42549 chr5 71465361 71465361 T A rs3112399 MIR4803 0 0 0.432 0 0 0 0 127 0 0 29 0 8.165 42550 chr2 206641245 206641245 - A rs200483574 NRP2 Stop gain C906* 0.07 0.076 0.078 17 82 29 0.044 23 1 2 0 0 42551 chr2 219678877 219678877 C T rs41272687 CYP27A1 Nonsynonymous SNV P384L 0.038 0.029 0.031 12 45 11 0.031 9 2 0 0 1 Benign/Likely benign 33 42552 chr2 185801103 185801103 A C rs61739291 ZNF804A Nonsynonymous SNV N327T 0.014 0.013 0.017 7 16 5 0.018 5 0 0 0 0 1.228 42553 chr5 71739602 71739602 G C rs13188519 ZNF366 Nonsynonymous SNV A739G 0.127 0.128 0.061 53 149 49 0.136 18 7 2 1 5 24 42554 chr2 219266385 219266385 G A rs2227249 CTDSP1 Nonsynonymous SNV A56T 0.01 0.005 0 7 12 2 0.018 0 0 0 0 0 Benign 5.079 42555 chr2 219694794 219694794 G A rs35658907 PRKAG3 Synonymous SNV G180G 0.022 0.023 0.01 9 26 9 0.023 3 0 0 0 0 11.76 42556 chr5 71757266 71757266 T C rs74460472 ZNF366 Nonsynonymous SNV K20E 0.059 0.068 0.041 23 69 26 0.059 12 2 1 0 2 6.741 42557 chr2 219855701 219855701 G A rs780545267 CRYBA2 Nonsynonymous SNV R107C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 42558 chr5 71757267 71757267 C T rs78980395 ZNF366 Synonymous SNV V19V 0.059 0.068 0.041 23 69 26 0.059 12 2 1 0 2 0.097 42559 chr12 124008074 124008074 T C rs28711796 RILPL1 Nonsynonymous SNV N143S 0.027 0.036 0.014 13 32 14 0.033 4 0 0 0 1 0.002 42560 chr2 185802184 185802184 C A rs61739287 ZNF804A Synonymous SNV I687I 0.009 0.008 0.017 4 11 3 0.01 5 0 0 0 0 9.43 42561 chr2 152515683 152515683 G A rs75807392 NEB Nonsynonymous SNV H1991Y 0.032 0.021 0.027 14 38 8 0.036 8 1 0 0 1 Benign 2.073 42562 chr12 124090655 124090655 C T rs7973689 DDX55 Synonymous SNV I65I 0.023 0.029 0.014 12 27 11 0.031 4 0 0 0 1 14.5 42563 chr2 152520145 152520145 T C rs150961139 NEB Nonsynonymous SNV R1894G 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Uncertain significance 25.4 42564 chr12 124092033 124092033 G C rs17881657 DDX55 Nonsynonymous SNV V101L 0.022 0.029 0.01 12 26 11 0.031 3 0 0 0 1 26.8 42565 chr2 234732311 234732311 G A rs17868361 MROH2A Nonsynonymous SNV V1372M 0.177 0.164 0.167 84 208 63 0.215 49 27 6 1 9 14.35 42566 chr2 207459467 207459467 C T rs3732079 ADAM23 Synonymous SNV A695A 0.066 0.063 0.061 11 78 24 0.028 18 2 1 1 0 14.88 42567 chr2 152527608 152527608 C T rs34577613 NEB Nonsynonymous SNV V1479I 0.099 0.076 0.112 35 116 29 0.09 33 6 1 3 5 Benign 12.95 42568 chr2 234741807 234741807 C T rs544792774 MROH2A Nonsynonymous SNV P1645S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.56 42569 chr12 124144359 124144359 T C rs11573006 GTF2H3 Synonymous SNV D191D 0.022 0.029 0.01 12 26 11 0.031 3 0 0 0 1 5.111 42570 chr2 179648841 179648841 C T rs141961878 TTN Nonsynonymous SNV V865I 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.02 42571 chr2 234750542 234750542 G C rs3732215 HJURP Nonsynonymous SNV S210C 0.482 0.438 0.493 161 566 168 0.413 145 133 37 33 28 0.161 42572 chr12 124156637 124156637 C T rs73416301 TCTN2 Synonymous SNV N75N 0.027 0.031 0.01 12 32 12 0.031 3 2 0 0 1 Benign 6.212 42573 chr2 220439678 220439678 C T rs12720063 INHA Synonymous SNV A177A 0.172 0.164 0.201 67 202 63 0.172 59 19 4 3 2 11.24 42574 chr12 124172706 124172706 A G rs73418153 TCTN2 Synonymous SNV A290A 0.027 0.031 0.01 12 32 12 0.031 3 2 0 0 1 Benign 6.966 42575 chr5 73181913 73181913 T C rs61734875 ARHGEF28 Synonymous SNV A785A 0.048 0.063 0.037 22 56 24 0.056 11 2 1 0 0 Benign 8.645 42576 chr12 124175086 124175086 C T rs77804131 TCTN2 Synonymous SNV L299L 0.022 0.029 0.01 12 26 11 0.031 3 0 0 0 1 Benign/Likely benign 13.46 42577 chr2 179749640 179749640 C T rs192561722 CCDC141 Synonymous SNV K569K 0.009 0.008 0.003 8 11 3 0.021 1 0 0 0 0 Likely benign 16.04 42578 chr2 220045454 220045454 G A rs2293072 RETREG2 Synonymous SNV G206G 0.019 0.021 0.041 16 22 8 0.041 12 1 0 0 2 11.09 42579 chr2 152580815 152580815 C G rs35686968 NEB Nonsynonymous SNV E191Q 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 42580 chr2 234761225 234761225 C T rs2286430 HJURP Nonsynonymous SNV E76K 0.466 0.424 0.486 152 547 163 0.39 143 123 35 31 23 2.225 42581 chr2 179839888 179839888 G A rs10497529 CCDC141 Nonsynonymous SNV A141V 0.022 0.034 0.02 3 26 13 0.008 6 1 0 0 0 32 42582 chr12 124192207 124192207 T C rs112158562 TCTN2 Synonymous SNV L680L 0.022 0.029 0.01 12 26 11 0.031 3 0 0 0 1 Benign/Likely benign 0.858 42583 chr2 152698480 152698480 C T rs1805028 CACNB4 Synonymous SNV L316L 0.023 0.013 0.031 14 27 5 0.036 9 1 0 0 1 Benign 14.4 42584 chr2 220075501 220075501 C T rs146941118 ABCB6 Nonsynonymous SNV G684R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 42585 chr2 237032607 237032607 T G rs11895915 AGAP1 Synonymous SNV A752A 0.194 0.216 0.218 88 228 83 0.226 64 23 10 8 4 0.068 42586 chr2 180815412 180815412 G A rs17778270 CWC22 Nonsynonymous SNV A656V 0.029 0.031 0.031 14 34 12 0.036 9 2 0 0 0 23.4 42587 chr12 124298030 124298030 G A rs143713799 DNAH10 Nonsynonymous SNV R1037H 0.03 0.034 0.02 20 35 13 0.051 6 0 0 0 2 7.702 42588 chr5 76028701 76028701 A G rs780695412 F2R Synonymous SNV G217G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.491 42589 chr2 220197456 220197456 C T rs769058345 RESP18 Nonsynonymous SNV G8R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.218 42590 chr2 238275569 238275569 T C rs77632596 COL6A3 Nonsynonymous SNV K1147R 0.008 0.008 0.024 1 9 3 0.003 7 0 0 0 0 Benign/Likely benign 8.636 42591 chr2 238419611 238419611 A G rs2292879 MIR6811 0.197 0.193 0.248 85 231 74 0.218 73 27 13 6 14 2.162 42592 chr2 186668013 186668013 A C rs774720109 FSIP2 Nonsynonymous SNV E4660D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.7 42593 chr5 76373240 76373240 A G rs2303713 ZBED3 Nonsynonymous SNV L155P 0.105 0.133 0.119 52 123 51 0.133 35 33 14 5 13 3.666 42594 chr2 220309685 220309685 G A rs55821435 SPEG Nonsynonymous SNV R206H 0.014 0 0.01 9 16 0 0.023 3 0 0 0 0 20.2 42595 chr2 186668714 186668714 A T rs17826419 FSIP2 Nonsynonymous SNV K4894I 0.03 0.047 0.027 14 35 18 0.036 8 0 2 0 0 24.2 42596 chr2 227660544 227660544 C T rs1801278 IRS1 Nonsynonymous SNV G971R 0.078 0.076 0.058 31 91 29 0.079 17 3 2 0 1 risk factor 23.5 42597 chr5 76373241 76373241 G C rs2303714 ZBED3 Nonsynonymous SNV L155V 0.104 0.135 0.122 52 122 52 0.133 36 32 14 5 13 0.01 42598 chr2 227662753 227662753 C T rs2234931 IRS1 Synonymous SNV G234G 0.078 0.076 0.058 31 91 29 0.079 17 3 2 0 1 8.634 42599 chr2 227872182 227872182 G A rs2228557 COL4A4 Synonymous SNV F1644F 0.323 0.344 0.34 127 379 132 0.326 100 62 23 17 22 Benign 13.51 42600 chr2 159389762 159389762 C T rs35112233 PKP4 Synonymous SNV A22A 0.049 0.065 0.095 27 58 25 0.069 28 1 1 0 2 13.57 42601 chr2 227872813 227872813 G A rs758945837 COL4A4 Nonsynonymous SNV A1577V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 26.5 42602 chr12 124856981 124856981 C T rs376153069 NCOR2 Synonymous SNV P780P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.99 42603 chr2 227872995 227872995 T C rs2228555 COL4A4 Synonymous SNV V1516V 0.417 0.424 0.435 161 489 163 0.413 128 107 34 28 36 Benign 4.281 42604 chr2 227886773 227886773 A G rs3752895 COL4A4 Nonsynonymous SNV S1403P 0.346 0.365 0.347 132 406 140 0.338 102 72 27 17 23 Benign 20.6 42605 chr2 227892619 227892619 C T rs2228556 COL4A4 Synonymous SNV P1360P 0.347 0.367 0.35 132 407 141 0.338 103 72 28 17 23 Benign 9.286 42606 chr12 125299542 125299542 C T rs5891 SCARB1 Nonsynonymous SNV V135I 0.022 0.008 0.02 5 26 3 0.013 6 1 0 0 0 17.13 42607 chr2 227892720 227892720 C T rs2229813 COL4A4 Nonsynonymous SNV V1327M 0.347 0.367 0.35 132 407 141 0.338 103 72 28 17 23 Benign 14.35 42608 chr2 238726817 238726817 A G rs78856938 RBM44 Nonsynonymous SNV R420G 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 16.07 42609 chr2 227896886 227896886 C T rs2229812 COL4A4 Synonymous SNV K1228K 0.347 0.367 0.35 132 407 141 0.338 103 72 28 17 23 Benign 7.12 42610 chr2 227896976 227896976 C T rs10203363 COL4A4 Synonymous SNV G1198G 0.346 0.367 0.35 132 406 141 0.338 103 72 28 17 23 Benign 10.9 42611 chr5 78181423 78181423 C T rs1071598 ARSB Nonsynonymous SNV V376M 0.198 0.211 0.15 69 232 81 0.177 44 19 7 5 10 Benign 22.6 42612 chr2 227915832 227915832 G A rs1800517 COL4A4 Nonsynonymous SNV P1004L 0.426 0.44 0.398 159 500 169 0.408 117 112 37 23 30 Benign 20.9 42613 chr2 227954599 227954599 G A rs2229814 COL4A4 Nonsynonymous SNV P482S 0.423 0.435 0.412 161 497 167 0.413 121 106 38 23 32 Benign 1.217 42614 chr14 23354066 23354066 G C rs8014119 REM2 Nonsynonymous SNV G96A 0.089 0.083 0.051 42 104 32 0.108 15 4 0 0 0 21.8 42615 chr2 210782586 210782586 G T UNC80 Synonymous SNV V1639V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.84 42616 chr14 23371285 23371285 T C rs199926651 RBM23 Nonsynonymous SNV T350A 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 0.001 42617 chr2 160690688 160690688 A C LY75, LY75-CD302 Nonsynonymous SNV S1236R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.83 42618 chr14 23467664 23467664 G A rs3829409 C14orf93 Nonsynonymous SNV A190V 0.135 0.128 0.085 58 159 49 0.149 25 13 3 0 2 15.31 42619 chr2 21224853 21224853 C T rs1801695 APOB Nonsynonymous SNV A4481T 0.058 0.049 0.061 29 68 19 0.074 18 3 0 2 2 Conflicting interpretations of pathogenicity 3.92 42620 chr2 16082896 16082896 C T rs767711936 MYCN Nonsynonymous SNV P237L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.66 42621 chr2 228476140 228476140 C T rs2176186 C2orf83 Stop gain W141X 0.398 0.396 0.347 148 467 152 0.379 102 92 30 14 29 28.1 42622 chr2 228563675 228563675 C T rs12185721 SLC19A3 Synonymous SNV L252L 0.031 0.026 0.017 8 36 10 0.021 5 1 0 0 0 Benign 4.354 42623 chr5 7878192 7878192 T C rs161870 MTRR Synonymous SNV L179L 0.132 0.156 0.146 42 155 60 0.108 43 8 5 3 1 Benign 0.023 42624 chr2 189917700 189917700 T C rs757721541 COL5A2 Synonymous SNV P866P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.323 42625 chr5 7885959 7885959 A G rs162036 MTRR Nonsynonymous SNV K350R 0.129 0.154 0.146 42 152 59 0.108 43 8 5 3 1 Benign 8.288 42626 chr5 7897191 7897191 C T rs10380 MTRR Nonsynonymous SNV H595Y 0.117 0.125 0.126 34 137 48 0.087 37 4 4 3 0 Benign 5.61 42627 chr5 7897283 7897283 G A rs12347 MTRR Synonymous SNV V625V 0.132 0.154 0.146 41 155 59 0.105 43 8 5 3 1 Benign 12.13 42628 chr2 190569908 190569908 G A rs116660656 ANKAR Nonsynonymous SNV C623Y 0.036 0.036 0.024 18 42 14 0.046 7 0 0 1 1 10.83 42629 chr2 163374577 163374577 G A rs113748016 KCNH7 Synonymous SNV I185I 0.011 0.016 0.048 11 13 6 0.028 14 0 0 0 0 9.021 42630 chr2 239155053 239155053 C T rs934945 PER2 Nonsynonymous SNV G1244E 0.213 0.266 0.204 97 250 102 0.249 60 27 14 8 9 7.914 42631 chr2 1647242 1647242 C A rs147066927 PXDN Nonsynonymous SNV V1284L 0.031 0.023 0.014 9 36 9 0.023 4 1 0 0 0 Benign 23.1 42632 chr2 23916290 23916290 C T KLHL29 Synonymous SNV D478D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 42633 chr14 23624391 23624391 C T rs117268667 SLC7A8 Synonymous SNV P59P 0.017 0.018 0.014 9 20 7 0.023 4 0 0 0 0 15.39 42634 chr12 129373247 129373247 C T rs73440307 GLT1D1 Nonsynonymous SNV A52V 0.006 0.008 0.01 8 7 3 0.021 3 0 0 1 0 3.312 42635 chr5 79095417 79095417 C T rs10043986 CMYA5 Nonsynonymous SNV P4063L 0.102 0.104 0.143 33 120 40 0.085 42 7 2 5 2 35 42636 chr5 79354122 79354122 G A rs769556559 THBS4 Nonsynonymous SNV A121T 0 0 0.007 0 0 0 0 2 0 0 0 0 1.125 42637 chr2 239306268 239306268 A C rs3739070 TRAF3IP1 Nonsynonymous SNV M554L 0.067 0.07 0.037 16 79 27 0.041 11 5 2 0 1 4.261 42638 chr12 129566340 129566340 G A rs60962336 TMEM132D Synonymous SNV I629I 0.011 0.005 0.007 5 13 2 0.013 2 0 0 0 0 2.133 42639 chr12 129566469 129566469 C T rs77363876 TMEM132D Synonymous SNV E586E 0.011 0.005 0.007 5 13 2 0.013 2 0 0 0 0 11.81 42640 chr2 239344412 239344412 C T rs3191996 ASB1 Synonymous SNV I84I 0.069 0.089 0.061 22 81 34 0.056 18 4 3 0 1 16.15 42641 chr2 165551404 165551404 G A rs17244632 COBLL1 Nonsynonymous SNV T833I 0.05 0.06 0.058 22 59 23 0.056 17 3 4 1 1 22.6 42642 chr5 79596274 79596274 C T rs35486429 LOC644936 0 0 0.316 0 0 0 0 93 0 0 13 0 7.252 42643 chr2 165657066 165657066 T C rs62173958 COBLL1 0.054 0.063 0.048 21 63 24 0.054 14 2 3 0 1 10.05 42644 chr2 231118041 231118041 A C rs3820975 SP140 Nonsynonymous SNV L356F 0.162 0.107 0.15 70 190 41 0.179 44 13 2 4 8 9.491 42645 chr5 79647483 79647483 T C rs13186162 CRSP8P 0 0 0.075 0 0 0 0 22 0 0 1 0 8.087 42646 chr5 79647685 79647685 A C rs13182471 CRSP8P 0 0 0.259 0 0 0 0 76 0 0 11 0 7.146 42647 chr2 241066201 241066201 C T rs74526284 COPS9 Nonsynonymous SNV G180R 0.014 0.016 0.007 3 16 6 0.008 2 1 0 0 0 20.7 42648 chr2 216242917 216242917 T A rs1132741 FN1 Synonymous SNV G1716G 0.288 0.328 0.293 101 338 126 0.259 86 56 19 13 12 13.84 42649 chr2 231149097 231149097 T C rs4972945 SP140 Nonsynonymous SNV M398T 0.147 0.104 0.143 65 172 40 0.167 42 12 2 4 7 0.001 42650 chr2 241066313 241066313 C T rs79464938 COPS9 Synonymous SNV A142A 0.014 0.018 0.007 3 16 7 0.008 2 1 0 0 0 12.51 42651 chr2 216272907 216272907 A T rs7596677 FN1 Synonymous SNV P814P 0.3 0.328 0.327 113 352 126 0.29 96 56 22 19 15 0.273 42652 chr2 24108681 24108681 T C rs114686503 ATAD2B Synonymous SNV L197L 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 6.535 42653 chr5 79950723 79950723 - CCC MSH3 A59_A60insP 0 0 0.007 0 0 0 0 2 0 0 0 0 42654 chr2 231861033 231861059 CAGCAGCCTAGCCCTGAATCCACACCA - rs72362780 SPATA3 Q48_Q56del 0.394 0.391 0.486 151 463 150 0.387 143 78 33 34 24 42655 chr5 80381725 80381725 A G rs34679424 RASGRF2 Synonymous SNV L422L 0.018 0.021 0.027 8 21 8 0.021 8 0 0 0 0 5.977 42656 chr2 196822004 196822004 A G rs62623378 DNAH7 Nonsynonymous SNV I1020T 0.153 0.201 0.184 55 180 77 0.141 54 12 3 8 5 Benign 15.32 42657 chr2 224462714 224462714 G A rs721233 SCG2 Synonymous SNV D429D 0.037 0.044 0.024 13 44 17 0.033 7 2 0 0 1 0.62 42658 chr12 132402007 132402007 G T rs34936984 ULK1 Nonsynonymous SNV G745V 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 25.1 42659 chr2 168099738 168099738 T C rs10497323 XIRP2 Synonymous SNV G390G 0.124 0.172 0.136 68 146 66 0.174 40 8 3 1 3 0.015 42660 chr2 168099775 168099775 C G rs16853305 XIRP2 Nonsynonymous SNV P403A 0.106 0.159 0.126 62 125 61 0.159 37 6 2 1 2 25.3 42661 chr2 168099796 168099796 T C rs16853306 XIRP2 Nonsynonymous SNV Y410H 0.106 0.159 0.126 62 125 61 0.159 37 6 2 1 2 0.05 42662 chr2 241569692 241569692 C T rs3749171 GPR35 Nonsynonymous SNV T108M 0.112 0.112 0.139 44 132 43 0.113 41 7 1 1 1 10.73 42663 chr12 132547090 132547090 A G rs7974276 EP400 Synonymous SNV Q2726Q 0.032 0.029 0.037 14 37 11 0.036 11 0 0 0 0 0.131 42664 chr5 82833391 82833391 A G rs16900528 VCAN Synonymous SNV T536T 0.075 0.063 0.068 25 88 24 0.064 20 1 3 0 2 Benign 0.194 42665 chr2 168103304 168103304 G A rs16853309 XIRP2 Nonsynonymous SNV R1579H 0.106 0.159 0.119 61 124 61 0.156 35 6 2 1 2 21.9 42666 chr2 197183856 197183856 A G rs61744819 HECW2 Synonymous SNV D230D 0.032 0.034 0.017 14 38 13 0.036 5 1 0 0 0 0.017 42667 chr12 132547093 132547093 - CAGCAG rs528214697 EP400 Q2748_T2749insQQ 0.065 0.052 0.027 25 76 20 0.064 8 5 1 0 0 42668 chr2 168103863 168103863 G A rs7581012 XIRP2 Synonymous SNV A1765A 0.106 0.159 0.119 61 124 61 0.156 35 6 2 1 2 0.224 42669 chr2 168103925 168103925 A G rs7607246 XIRP2 Nonsynonymous SNV N1786S 0.068 0.12 0.082 48 80 46 0.123 24 3 1 0 1 0.001 42670 chr2 233498506 233498506 C T rs112941683 EFHD1 Nonsynonymous SNV A31V 0.048 0.016 0.065 25 56 6 0.064 19 1 0 0 2 17.74 42671 chr2 168104199 168104199 C T rs7581190 XIRP2 Synonymous SNV D1877D 0.068 0.12 0.082 48 80 46 0.123 24 3 1 0 1 9.493 42672 chr2 168104627 168104627 G A rs61750760 XIRP2 Nonsynonymous SNV R2020Q 0.104 0.156 0.119 59 122 60 0.151 35 6 2 1 2 10.72 42673 chr5 8461166 8461166 T C rs341899 MIR4458HG 0 0 0.99 0 0 0 0 291 0 0 145 0 2.718 42674 chr5 86695274 86695274 A G rs2230641 CCNH Nonsynonymous SNV V217A 0.225 0.234 0.19 90 264 90 0.231 56 33 9 11 9 26.3 42675 chr2 168104988 168104988 G T rs59889092 XIRP2 Nonsynonymous SNV M2140I 0.068 0.12 0.082 48 80 46 0.123 24 3 1 0 1 2.215 42676 chr5 87963272 87963272 - A rs5869431 LINC00461 0 0 0.973 0 0 0 0 286 0 0 139 0 42677 chr5 87968864 87968864 A G rs6882046 LINC00461 0 0 0.367 0 0 0 0 108 0 0 18 0 14.96 42678 chr14 24656758 24656758 C G IPO4 Nonsynonymous SNV V146L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.86 42679 chr2 197657762 197657767 TCCTCC - rs555178972 GTF3C3 E110_E111del 0.006 0 0 3 7 0 0.008 0 0 0 0 0 42680 chr5 891394 891394 C T rs192024710 BRD9 Nonsynonymous SNV R41K 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 12.66 42681 chr2 168106085 168106085 G A rs16853328 XIRP2 Nonsynonymous SNV S2506N 0.068 0.12 0.082 48 80 46 0.123 24 3 1 0 1 0.815 42682 chr14 24683267 24683267 A - rs3215610 MDP1, NEDD8-MDP1 F118Lfs*13 0.091 0.06 0.119 35 107 23 0.09 35 2 0 3 2 42683 chr2 168106246 168106246 G A rs16853330 XIRP2 Nonsynonymous SNV V2560I 0.106 0.159 0.126 61 125 61 0.156 37 6 2 1 2 0.009 42684 chr14 24729687 24729687 C T rs35755034 TGM1 Synonymous SNV E242E 0.03 0.018 0.044 21 35 7 0.054 13 0 0 1 1 Benign/Likely benign 13.4 42685 chr2 227946893 227946893 C G rs1800516 COL4A4 Nonsynonymous SNV G545A 0.037 0.042 0.037 20 44 16 0.051 11 0 0 0 1 Benign/Likely benign 25.1 42686 chr2 168107155 168107155 G A rs16853331 XIRP2 Nonsynonymous SNV A2863T 0.106 0.159 0.119 61 124 61 0.156 35 6 2 1 2 9.71 42687 chr5 89979518 89979518 C T rs17544552 ADGRV1 Nonsynonymous SNV T1927M 0.126 0.125 0.122 67 148 48 0.172 36 10 1 3 5 Benign 8.035 42688 chr2 241872722 241872722 G A rs10193144 CROCC2 Nonsynonymous SNV V476M 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 15.11 42689 chr14 24760764 24760764 G A rs10134537 DHRS1 Nonsynonymous SNV T241I 0.072 0.078 0.088 21 84 30 0.054 26 5 1 2 0 22.7 42690 chr2 168107491 168107491 A G rs3749004 XIRP2 Nonsynonymous SNV I2975V 0.106 0.159 0.119 61 124 61 0.156 35 6 2 1 2 0.002 42691 chr2 227958887 227958887 A G rs35830639 COL4A4 Synonymous SNV P441P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 0.414 42692 chr2 168108357 168108357 A G rs1842233 XIRP2 Synonymous SNV Q3263Q 0.124 0.172 0.136 67 145 66 0.172 40 8 3 1 3 0.041 42693 chr2 168115710 168115710 T G rs3749006 XIRP2 Nonsynonymous SNV V663G 0.068 0.12 0.085 48 80 46 0.123 25 3 1 0 1 9.068 42694 chr14 24806126 24806126 C G RIPK3 Nonsynonymous SNV W434S 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 6.002 42695 chr2 168115769 168115769 G C rs16853344 XIRP2 Nonsynonymous SNV E683Q 0.068 0.12 0.085 48 80 46 0.123 25 3 1 0 1 5.454 42696 chr12 133363073 133363073 A G rs765444254 GOLGA3 Nonsynonymous SNV M992T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.7 42697 chr2 168115797 168115797 G C rs75758327 XIRP2 Nonsynonymous SNV R692T 0.038 0.07 0.044 18 45 27 0.046 13 1 0 0 0 3.594 42698 chr5 90119293 90119293 C T rs3763073 ADGRV1 Synonymous SNV V5416V 0.036 0.057 0.017 22 42 22 0.056 5 0 0 0 0 Benign 11.55 42699 chr2 242002263 242002263 C T rs3732228 SNED1 Synonymous SNV R771R 0.032 0.039 0.037 7 37 15 0.018 11 0 0 0 0 11.48 42700 chr2 242077496 242077496 C T rs1470414 PASK Nonsynonymous SNV V250I 0.372 0.424 0.412 151 437 163 0.387 121 75 32 24 27 0.003 42701 chr2 201354825 201354825 A G rs763628451 KCTD18 X427R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.493 42702 chr2 228221725 228221725 A G rs4844 MFF Synonymous SNV L183L 0.124 0.096 0.065 42 145 37 0.108 19 4 2 1 1 Benign 4.357 42703 chr12 133389998 133389998 T C rs7134809 GOLGA3 Synonymous SNV T138T 0.107 0.099 0.095 43 126 38 0.11 28 8 3 1 0 0.263 42704 chr2 228230945 228230945 G A rs76547437 TM4SF20 Nonsynonymous SNV L89F 0.124 0.096 0.092 42 145 37 0.108 27 4 2 1 1 1.715 42705 chr5 93807200 93807200 A G rs114467120 KIAA0825 Synonymous SNV Y564Y 0.017 0.01 0.003 8 20 4 0.021 1 0 0 0 0 1.208 42706 chr2 169746000 169746000 A T rs751630750 SPC25 Nonsynonymous SNV D10E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.918 42707 chr2 242092919 242092919 C T rs200666170 PPP1R7 Synonymous SNV S27S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.12 42708 chr2 220037557 220037557 G A rs17849474 CNPPD1 Synonymous SNV A328A 0.016 0.023 0.01 9 19 9 0.023 3 0 0 0 0 6.421 42709 chr2 242147020 242147020 G C rs147733698 ANO7 Nonsynonymous SNV E338Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 42710 chr5 95194686 95194686 C T rs17366761 LINC01554 0 0 0.116 0 0 0 0 34 0 0 1 0 13.13 42711 chr2 242157241 242157241 G A rs76832527 ANO7 Nonsynonymous SNV A705T 0.139 0.138 0.126 52 163 53 0.133 37 16 2 3 5 32 42712 chr2 242157740 242157740 C T rs202170152 ANO7 Synonymous SNV N755N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.115 42713 chr2 228758580 228758580 G C rs16824157 DAW1 Synonymous SNV T129T 0.073 0.065 0.078 30 86 25 0.077 23 4 2 1 0 11.29 42714 chr2 202074098 202074098 G A rs13010627 CASP10 Nonsynonymous SNV V343I 0.068 0.068 0.051 22 80 26 0.056 15 4 0 0 1 Benign 15.12 42715 chr2 228564010 228564010 C T rs148144444 SLC19A3 Nonsynonymous SNV G141S 0.016 0.016 0.003 8 19 6 0.021 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.452 42716 chr14 24909629 24909629 C A rs11538256 SDR39U1 Nonsynonymous SNV G99V 0.038 0.042 0.017 15 45 16 0.038 5 2 0 0 0 32 42717 chr5 95751785 95751785 T C rs6232 PCSK1 Nonsynonymous SNV N221D 0.027 0.044 0.041 15 32 17 0.038 12 0 0 0 0 Benign 21.4 42718 chr5 96076487 96076487 G A rs7724759 CAST Synonymous SNV S151S 0.29 0.289 0.313 97 341 111 0.249 92 56 19 14 10 10.18 42719 chr2 24236236 24236236 G A rs11887523 MFSD2B Nonsynonymous SNV A60T 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 29 42720 chr2 170070348 170070348 T C rs11886219 LRP2 Synonymous SNV R1953R 0.037 0.031 0.068 24 44 12 0.062 20 3 0 1 1 Benign 4.612 42721 chr5 96086334 96086334 G C rs754615 CAST Nonsynonymous SNV C354S 0.371 0.383 0.422 150 436 147 0.385 124 84 25 28 28 0.006 42722 chr2 230579016 230579016 G A rs11552881 DNER Synonymous SNV L42L 0.037 0.031 0.014 13 44 12 0.033 4 6 3 0 0 5.945 42723 chr2 170092395 170092395 A G rs2229267 LRP2 Synonymous SNV C1625C 0.291 0.302 0.378 140 342 116 0.359 111 49 19 19 33 Benign 6.06 42724 chr5 96117555 96117555 C T rs61745685 ERAP1 Synonymous SNV L763L 0.076 0.065 0.119 25 89 25 0.064 35 8 0 3 2 8.485 42725 chr14 24911452 24911452 T C rs11538255 SDR39U1 Nonsynonymous SNV H5R 0.038 0.042 0.017 15 45 16 0.038 5 2 0 0 0 0.841 42726 chr5 96118866 96118866 C T rs17482078 ERAP1 Nonsynonymous SNV R725Q 0.151 0.161 0.153 49 177 62 0.126 45 16 10 3 2 24 42727 chr14 25043671 25043671 T C rs45567233 CTSG Nonsynonymous SNV N125S 0.06 0.06 0.041 20 70 23 0.051 12 1 2 1 1 Benign 0.002 42728 chr5 96122210 96122210 C T rs10050860 ERAP1 Nonsynonymous SNV D575N 0.16 0.172 0.15 48 188 66 0.123 44 17 11 3 2 16.87 42729 chr2 170115672 170115672 A G rs33954745 LRP2 Synonymous SNV D792D 0.095 0.063 0.116 44 111 24 0.113 34 6 0 0 1 Benign 8.978 42730 chr2 230723777 230723777 G C rs544480 TRIP12 Synonymous SNV S204S 0.147 0.18 0.146 71 173 69 0.182 43 9 7 3 10 3.308 42731 chr2 202400872 202400872 G A rs77540829 C2CD6 Nonsynonymous SNV P460S 0.009 0 0.017 6 11 0 0.015 5 0 0 0 0 0.006 42732 chr2 242690770 242690770 T C rs141343442 D2HGDH Synonymous SNV D235D 0.057 0.044 0.051 21 67 17 0.054 15 0 1 0 1 Benign/Likely benign 0.032 42733 chr5 96129535 96129535 T C rs2287987 ERAP1 Nonsynonymous SNV M349V 0.159 0.172 0.146 50 187 66 0.128 43 17 11 3 2 11.31 42734 chr2 237123384 237123384 C A rs56247246 ASB18 Nonsynonymous SNV R241L 0.051 0.07 0.017 17 60 27 0.044 5 8 6 0 0 11.2 42735 chr5 96215680 96215680 C T rs41506651 ERAP2 Synonymous SNV I97I 0.145 0.102 0.167 46 170 39 0.118 49 10 0 7 3 18.29 42736 chr2 170531162 170531162 C T rs200589066 CCDC173 Nonsynonymous SNV A196T 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 29.9 42737 chr2 237406091 237406091 G A rs113638946 IQCA1 Synonymous SNV L17L 0.01 0.023 0.007 11 12 9 0.028 2 0 0 0 0 8.776 42738 chr2 231775144 231775144 G A rs1992187 GPR55 Synonymous SNV S178S 0.055 0.049 0.058 26 64 19 0.067 17 0 1 0 0 0.892 42739 chr2 170666813 170666813 T C rs3754913 SSB Synonymous SNV I230I 0.05 0.036 0.048 16 59 14 0.041 14 2 0 2 1 9.266 42740 chr5 9629295 9629295 A G rs2234235 TAS2R1 Synonymous SNV L284L 0.054 0.057 0.054 23 63 22 0.059 16 2 0 0 0 9.516 42741 chr2 242814027 242814027 C T rs76439282 RTP5 Nonsynonymous SNV P107L 0.066 0.052 0.048 32 78 20 0.082 14 1 1 0 1 13.24 42742 chr2 238243375 238243375 C T rs61729843 COL6A3 Synonymous SNV T2434T 0.026 0.029 0.034 17 30 11 0.044 10 0 0 0 0 Benign/Likely benign 11.61 42743 chr14 31647439 31647439 T C rs33983486 HECTD1 Synonymous SNV L54L 0.079 0.133 0.078 33 93 51 0.085 23 3 5 1 4 5.23 42744 chr2 242814268 242814268 G T rs114620732 RTP5 Synonymous SNV P187P 0.019 0.018 0.003 6 22 7 0.015 1 0 1 0 0 1.811 42745 chr2 242814283 242814283 C T rs28499542 RTP5 Synonymous SNV G192G 0.078 0.063 0.058 36 91 24 0.092 17 1 1 0 1 11.37 42746 chr5 96508943 96508943 C T rs35713904 RIOK2 Nonsynonymous SNV V175I 0.024 0.008 0.034 8 28 3 0.021 10 1 0 1 0 32 42747 chr13 22178258 22178258 C T rs9509812 MICU2 Synonymous SNV R10R 0.169 0.151 0.173 75 198 58 0.192 51 18 2 5 11 9.217 42748 chr2 203748997 203748997 G A rs762601516 WDR12 Synonymous SNV S166S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 42749 chr2 231944938 231944938 A C rs138925802 PSMD1 Synonymous SNV G441G 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 4.903 42750 chr2 242814360 242814360 T C rs28378061 RTP5 Nonsynonymous SNV I218T 0.078 0.063 0.058 36 91 24 0.092 17 1 1 0 1 0.186 42751 chr2 242814463 242814463 A T rs28523279 RTP5 Synonymous SNV S252S 0.078 0.063 0.061 35 92 24 0.09 18 1 1 0 1 0.002 42752 chr2 238253332 238253332 G A rs10084221 COL6A3 Synonymous SNV A1836A 0.029 0.044 0.041 15 34 17 0.038 12 1 0 0 0 Benign 10.52 42753 chr6 100390957 100390957 C T rs62434070 MCHR2 Nonsynonymous SNV R152Q 0.032 0.031 0.044 13 37 12 0.033 13 0 0 1 1 22.5 42754 chr2 238262021 238262021 G A rs36117715 COL6A3 Nonsynonymous SNV P1611L 0.065 0.068 0.075 29 76 26 0.074 22 1 1 0 0 Benign 8.451 42755 chr2 231404003 231404003 G A SP100 Nonsynonymous SNV E706K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.51 42756 chr6 100868721 100868721 G A rs3734355 SIM1 Nonsynonymous SNV A371V 0.137 0.143 0.116 49 161 55 0.126 34 11 2 2 2 Benign 19.88 42757 chr2 232393523 232393523 A G rs767605437 NMUR1 Nonsynonymous SNV I70T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 23.7 42758 chr2 238296355 238296355 G A rs114750216 COL6A3 Synonymous SNV T188T 0.023 0.031 0.014 6 27 12 0.015 4 0 0 0 0 Benign/Likely benign 11.32 42759 chr6 100868779 100868779 G T rs3734354 SIM1 Nonsynonymous SNV P352T 0.136 0.143 0.116 49 160 55 0.126 34 10 2 2 2 Benign 23.9 42760 chr2 204354385 204354385 G A rs113379995 RAPH1 Synonymous SNV S218S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.9 42761 chr2 231865090 231865090 T C rs2271376 SPATA3 Nonsynonymous SNV I104T 0.344 0.32 0.361 143 404 123 0.367 106 71 26 21 25 0.002 42762 chr2 171358360 171358360 G C MYO3B Nonsynonymous SNV A1119P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21.7 42763 chr2 171400449 171400449 T C rs56181206 MYO3B Synonymous SNV P1201P 0.058 0.016 0.014 9 68 6 0.023 4 1 0 0 0 0.643 42764 chr2 25039615 25039615 C T rs146239018 CENPO Nonsynonymous SNV P226L 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 1.128 42765 chr6 106899411 106899411 G A rs1417353 LOC105377924 0 0 0.786 0 0 0 0 231 0 0 96 0 4.766 42766 chr6 106959961 106959961 A G rs4946759 CRYBG1 Synonymous SNV E323E 0.739 0.732 0.724 284 868 281 0.728 213 332 101 74 105 9.023 42767 chr2 232263127 232263127 G A rs2290130 B3GNT7 Nonsynonymous SNV V233I 0.213 0.26 0.276 76 250 100 0.195 81 28 17 12 8 22.3 42768 chr2 233633460 233633460 G A rs1801251 KCNJ13 Nonsynonymous SNV T95I 0.348 0.352 0.371 138 409 135 0.354 109 70 30 15 29 Benign 0.004 42769 chr6 106991361 106991361 T C rs61741114 CRYBG1 Nonsynonymous SNV L1235P 0.051 0.063 0.068 21 60 24 0.054 20 2 4 0 0 27 42770 chr2 232392957 232392957 G A rs150482580 NMUR1 Nonsynonymous SNV R259W 0.013 0.018 0.01 4 15 7 0.01 3 0 1 0 0 Benign 22.2 42771 chr2 207012509 207012509 T C rs150920947 NDUFS1 Nonsynonymous SNV I19V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 42772 chr2 220412282 220412282 T G rs145979116 TMEM198 Nonsynonymous SNV V74G 0.022 0.021 0.007 4 26 8 0.01 2 1 0 0 0 23.6 42773 chr2 172725260 172725260 T C SLC25A12 Nonsynonymous SNV Y47C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 42774 chr6 108029180 108029180 G A rs56215636 SCML4 Nonsynonymous SNV R95W 0.045 0.042 0.051 19 53 16 0.049 15 0 0 0 0 34 42775 chr2 233321679 233321679 C G rs771730709 ALPI Nonsynonymous SNV A124G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.387 42776 chr14 36947065 36947065 G A rs111333986 SFTA3 0.015 0.016 0.003 3 18 6 0.008 1 0 0 0 0 1.883 42777 chr6 108194067 108194067 G A SEC63 Nonsynonymous SNV T695I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 42778 chr6 108677977 108677977 G A rs74349975 AFG1L Nonsynonymous SNV E201K 0.077 0.065 0.044 36 90 25 0.092 13 7 1 0 1 21.9 42779 chr2 207603221 207603221 T C rs2287632 MDH1B Nonsynonymous SNV T417A 0.097 0.076 0.058 35 114 29 0.09 17 7 0 0 1 0.002 42780 chr2 233414341 233414341 C T rs4973540 TIGD1 Synonymous SNV K84K 0.363 0.419 0.109 168 426 161 0.431 32 142 50 15 52 17.15 42781 chr2 26539806 26539806 A G rs75819301 ADGRF3 Nonsynonymous SNV L90P 0.047 0.034 0.048 10 55 13 0.026 14 0 0 0 0 21.3 42782 chr6 10928644 10928644 G A rs756820235 SYCP2L Synonymous SNV P483P 0 0 0.007 0 0 0 0 2 0 0 1 0 7.665 42783 chr2 207615724 207615724 C T rs61744963 MDH1B Nonsynonymous SNV R231K 0.02 0.021 0.024 7 24 8 0.018 7 0 0 0 0 11.97 42784 chr6 109575729 109575729 G A rs41288546 CCDC162P 0.023 0.018 0.041 8 27 7 0.021 12 0 0 0 0 7.96 42785 chr6 109615603 109615603 G T rs9487048 CCDC162P 0 0 0.337 0 0 0 0 99 0 0 20 0 14.7 42786 chr6 109616762 109616762 A G rs9400272 CCDC162P 0 0 0.337 0 0 0 0 99 0 0 20 0 10.36 42787 chr6 109621434 109621434 G T rs78351760 CCDC162P 0 0 0.048 0 0 0 0 14 0 0 0 0 2.279 42788 chr6 109621494 109621494 T C rs6927569 CCDC162P 0 0 0.446 0 0 0 0 131 0 0 32 0 1.624 42789 chr6 109752451 109752451 T C rs9398200 PPIL6 Nonsynonymous SNV H78R 0.02 0.013 0.014 7 23 5 0.018 4 0 0 0 0 5.622 42790 chr2 26683874 26683874 C T rs111033329 OTOF Nonsynonymous SNV R1163Q 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 42791 chr2 17697635 17697635 T C rs181531922 RAD51AP2 Nonsynonymous SNV E683G 0.012 0.005 0.017 1 14 2 0.003 5 0 0 0 0 8.766 42792 chr2 26699855 26699855 G C rs2272069 OTOF Synonymous SNV V170V 0.304 0.341 0.323 126 357 131 0.323 95 58 24 14 25 Benign 12.67 42793 chr2 26700700 26700700 G A rs4665855 OTOF Nonsynonymous SNV P21L 0.321 0.352 0.337 133 377 135 0.341 99 65 24 15 29 Benign 1.757 42794 chr2 240111646 240111646 C T rs145137674 HDAC4 Synonymous SNV E74E 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 Benign/Likely benign 12.82 42795 chr2 240964714 240964714 G C rs11541494 NDUFA10 Nonsynonymous SNV A2G 0.155 0.146 0.099 68 182 56 0.174 29 16 6 0 4 Benign/Likely benign 23.7 42796 chr14 44975147 44975147 A G rs11623175 FSCB Synonymous SNV A348A 0.106 0.107 0.099 39 125 41 0.1 29 5 2 1 0 1.569 42797 chr2 241375423 241375423 C T rs761864651 GPC1 Nonsynonymous SNV R30W 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 34 42798 chr2 224824267 224824267 T C rs201778761 MRPL44 Nonsynonymous SNV W66R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 27.2 42799 chr14 45400586 45400586 G C KLHL28 Nonsynonymous SNV P515R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 27 42800 chr2 241405485 241405485 C T rs2228330 GPC1 Synonymous SNV G485G 0.274 0.24 0.207 91 322 92 0.233 61 49 15 6 6 13.97 42801 chr14 45645715 45645715 A G rs45604036 FANCM Nonsynonymous SNV N1227S 0.03 0.049 0.02 13 35 19 0.033 6 1 0 1 1 Benign 0.001 42802 chr14 45665661 45665661 A G rs45557033 FANCM Nonsynonymous SNV N1850S 0.03 0.049 0.014 13 35 19 0.033 4 1 0 0 1 Benign 0.134 42803 chr2 179315070 179315070 T G PRKRA Nonsynonymous SNV K34T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.3 42804 chr2 241533345 241533345 C T rs13007017 CAPN10 Synonymous SNV F237F 0.024 0.018 0.031 5 28 7 0.013 9 0 0 0 0 13.98 42805 chr2 179393846 179393846 G A TTN Synonymous SNV A26479A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.99 42806 chr2 179399576 179399576 C G rs55886356 TTN Nonsynonymous SNV Q24857H 0.012 0.023 0 1 14 9 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.52 42807 chr13 31036837 31036837 G A rs1060348 HMGB1 Synonymous SNV F103F 0.038 0.034 0.02 13 45 13 0.033 6 0 0 1 0 10.11 42808 chr6 111694124 111694124 C G rs3218599 REV3L Nonsynonymous SNV D1812H 0.036 0.021 0.02 5 42 8 0.013 6 0 0 1 0 12.11 42809 chr2 209190253 209190253 C T rs61752187 PIKFYVE Synonymous SNV Y906Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.196 42810 chr2 27429808 27429808 G A rs61280535 SLC5A6 Synonymous SNV Y132Y 0.019 0.031 0.027 5 22 12 0.013 8 0 0 0 0 9.385 42811 chr2 179442198 179442198 C G rs201381085 TTN Nonsynonymous SNV G13890A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 16.57 42812 chr2 234728627 234728627 G A rs964853682 MROH2A Nonsynonymous SNV G1146D 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 24.1 42813 chr6 111919108 111919108 T C rs6941014 TRAF3IP2-AS1 0 0 0.537 0 0 0 0 158 0 0 44 0 0.067 42814 chr2 27550967 27550967 A G rs1049817 GTF3C2 Synonymous SNV P782P 0.262 0.305 0.235 118 308 117 0.303 69 34 21 9 15 5.832 42815 chr2 27600814 27600814 G A rs61995753 ZNF513 Synonymous SNV R346R 0.02 0.031 0.027 5 23 12 0.013 8 0 0 0 0 Uncertain significance 1.05 42816 chr6 112382313 112382313 G T rs1230345 CCN6 Nonsynonymous SNV Q56H 0.23 0.299 0.262 98 270 115 0.251 77 29 18 12 5 Benign 0.005 42817 chr2 27676287 27676287 A T rs56076827 IFT172 Synonymous SNV S1305S 0.26 0.299 0.224 120 305 115 0.308 66 34 21 8 14 Benign 0.061 42818 chr6 112435912 112435912 A T rs1050353 LAMA4 Synonymous SNV V1720V 0.253 0.302 0.286 104 297 116 0.267 84 34 20 16 5 Benign 5.688 42819 chr2 179547459 179547459 T C rs72650035 TTN Nonsynonymous SNV Y9776C 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.021 42820 chr2 27741731 27741731 T G rs199910872 GCKR Nonsynonymous SNV I500S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 26.8 42821 chr2 210705348 210705348 C G rs10178675 UNC80 Synonymous SNV L1111L 0.175 0.203 0.214 67 205 78 0.172 63 20 8 10 3 12.69 42822 chr2 235951183 235951183 G A rs140262787 SH3BP4 Synonymous SNV R590R 0.015 0.026 0.003 3 18 10 0.008 1 0 0 0 0 7.943 42823 chr14 50911878 50911878 G A rs34818002 MAP4K5 Nonsynonymous SNV P407L 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 11.07 42824 chr6 116575116 116575116 G T rs17524614 TSPYL4 Nonsynonymous SNV A19D 0.118 0.148 0.136 44 139 57 0.113 40 8 5 4 0 3.158 42825 chr2 236761414 236761414 - CAGG rs142341634 AGAP1 Frameshift insertion P381Rfs*13 0.16 0.146 0.197 60 188 56 0.154 58 11 5 7 4 42826 chr2 237300677 237300677 T C rs10204742 IQCA1 Nonsynonymous SNV K411R 0.055 0.039 0.075 12 64 15 0.031 22 1 2 0 0 13.73 42827 chr2 237076096 237076096 C G rs112186240 GBX2 Synonymous SNV S173S 0.088 0.086 0.099 48 103 33 0.123 29 8 1 2 0 13.31 42828 chr6 116875427 116875427 G A rs7762318 CALHM4 Synonymous SNV L157L 0.676 0.716 0.639 246 794 275 0.631 188 267 101 59 72 4.825 42829 chr6 116875493 116875493 T C rs9387420 CALHM4 Synonymous SNV L179L 0.195 0.203 0.19 80 229 78 0.205 56 23 6 6 8 0.936 42830 chr6 116950734 116950734 G A rs6927567 RSPH4A Nonsynonymous SNV R556H 0.22 0.234 0.194 86 258 90 0.221 57 29 11 2 10 Benign 31 42831 chr6 116973182 116973182 T C rs4946188 ZUP1 Nonsynonymous SNV N183D 0.308 0.292 0.282 124 362 112 0.318 83 54 16 11 20 6.449 42832 chr2 231101855 231101855 T G rs115618178 SP140 Synonymous SNV P39P 0.008 0.018 0.01 6 9 7 0.015 3 0 0 0 0 Benign 0.278 42833 chr13 33629260 33629260 T C rs138916294 KL Synonymous SNV G469G 0.008 0.023 0.003 6 9 9 0.015 1 0 0 0 0 Likely benign 1.008 42834 chr6 117114290 117114290 A G rs35937022 GPRC6A Nonsynonymous SNV I528T 0.261 0.255 0.299 89 306 98 0.228 88 44 11 14 8 0.001 42835 chr2 21245813 21245813 G A rs1801700 APOB Synonymous SNV N902N 0.041 0.023 0.031 21 48 9 0.054 9 0 0 0 0 Conflicting interpretations of pathogenicity 9.091 42836 chr2 231222655 231222655 G T rs10498250 SP140L Synonymous SNV R56R 0.146 0.115 0.143 55 171 44 0.141 42 9 5 4 6 1.816 42837 chr2 231222675 231222675 T C rs4973318 SP140L Nonsynonymous SNV M63T 0.135 0.104 0.133 53 159 40 0.136 39 9 5 4 5 14.02 42838 chr2 242610738 242610738 T C rs11538896 ATG4B Synonymous SNV L342L 0.251 0.232 0.204 96 295 89 0.246 60 38 15 2 10 0.032 42839 chr6 117130544 117130544 A C rs28360548 GPRC6A Nonsynonymous SNV I144R 0.291 0.289 0.32 108 342 111 0.277 94 54 17 15 16 25.7 42840 chr2 216211655 216211655 C G rs116255553 ATIC Synonymous SNV T498T 0.029 0.01 0.014 8 34 4 0.021 4 1 0 0 0 Benign 13.42 42841 chr2 238668783 238668783 A G rs3213869 LRRFIP1 Nonsynonymous SNV Q219R 0.049 0.068 0.054 16 57 26 0.041 16 3 0 0 0 0.007 42842 chr6 117869286 117869286 G T rs11153674 DCBLD1 Nonsynonymous SNV R611L 0.152 0.143 0.139 66 179 55 0.169 41 17 2 5 12 15.73 42843 chr2 242681922 242681922 C T rs142473303 D2HGDH Synonymous SNV P7P 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.24 42844 chr6 117869424 117869424 G A rs929059 DCBLD1 Nonsynonymous SNV S657N 0.144 0.135 0.136 64 169 52 0.164 40 16 1 5 12 8.068 42845 chr2 29274704 29274704 C T rs61749512 TOGARAM2 Synonymous SNV T744T 0.12 0.12 0.095 36 141 46 0.092 28 10 1 0 2 12.68 42846 chr2 216298084 216298084 G A rs2289202 FN1 Synonymous SNV I126I 0.168 0.161 0.156 93 197 62 0.238 46 11 7 3 11 15.94 42847 chr2 242743169 242743169 C T rs200028725 GAL3ST2 Nonsynonymous SNV A262V 0.008 0.003 0 0 9 1 0 0 1 0 0 0 15.05 42848 chr2 29293837 29293837 C T rs183536545 PCARE Synonymous SNV Q1097Q 0.037 0.036 0.024 11 44 14 0.028 7 2 1 0 0 Conflicting interpretations of pathogenicity 7.143 42849 chr6 119137147 119137147 T C rs79670608 MCM9 Nonsynonymous SNV T758A 0.032 0.029 0.034 9 37 11 0.023 10 0 0 0 0 0.695 42850 chr2 29356567 29356567 G C rs17749904 CLIP4 Synonymous SNV L138L 0.216 0.177 0.197 67 254 68 0.172 58 33 7 5 3 3.139 42851 chr2 239025630 239025630 T C rs11904159 ESPNL Synonymous SNV H314H 0.148 0.156 0.156 44 174 60 0.113 46 14 4 5 0 0.029 42852 chr2 29366646 29366646 C T rs35024908 CLIP4 Synonymous SNV A240A 0.054 0.081 0.027 20 63 31 0.051 8 1 1 0 0 12.38 42853 chr2 239025645 239025645 C T rs11897736 ESPNL Synonymous SNV C319C 0.148 0.156 0.156 44 174 60 0.113 46 14 4 5 0 14.14 42854 chr2 24929851 24929851 A T rs3731628 NCOA1 Synonymous SNV P504P 0.089 0.052 0.061 41 104 20 0.105 18 3 2 0 0 0.02 42855 chr2 182780307 182780307 G A rs75716247 ITPRID2 Nonsynonymous SNV G494D 0.043 0.029 0.044 8 51 11 0.021 13 1 0 0 0 10.6 42856 chr2 30975961 30975961 G T rs62142192 CAPN13 Nonsynonymous SNV Q349K 0.152 0.13 0.133 56 178 50 0.144 39 15 5 2 7 9.961 42857 chr6 123122464 123122464 C T rs28385609 SMPDL3A Nonsynonymous SNV P30S 0.143 0.182 0.146 67 168 70 0.172 43 11 5 1 7 26.7 42858 chr2 25061315 25061315 G A rs139407103 ADCY3 Nonsynonymous SNV S511L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 19.38 42859 chr2 182792984 182792984 T A rs2303554 ITPRID2 Nonsynonymous SNV Y1083N 0.043 0.029 0.048 8 51 11 0.021 14 1 0 0 0 15.86 42860 chr14 55903340 55903340 T C rs145550690 TBPL2 Nonsynonymous SNV I183V 0.013 0.023 0.007 4 15 9 0.01 2 0 0 0 0 0.544 42861 chr2 216923679 216923679 C T rs1429148 PECR Nonsynonymous SNV E149K 0.051 0.057 0.054 27 60 22 0.069 16 0 0 0 1 14.59 42862 chr6 123869607 123869607 G C rs9490809 TRDN Nonsynonymous SNV T128S 0.514 0.497 0.568 215 603 191 0.551 167 156 53 49 62 Benign 0.316 42863 chr2 25190127 25190127 G A rs6749438 DNAJC27 Synonymous SNV F41F 0.051 0.047 0.041 28 60 18 0.072 12 2 2 0 1 12.33 42864 chr6 125229538 125229538 T C rs781733 RNF217-AS1 0 0 0.765 0 0 0 0 225 0 0 88 0 0.201 42865 chr6 125230075 125230075 A C rs781735 RNF217-AS1 0 0 0.969 0 0 0 0 285 0 0 142 0 2.799 42866 chr13 40293428 40293428 T C rs41286961 COG6 Nonsynonymous SNV M447T 0.055 0.044 0.027 16 65 17 0.041 8 5 0 0 1 Benign 0.013 42867 chr6 125230575 125230575 G T rs1577203 RNF217-AS1 0 0 0.67 0 0 0 0 197 0 0 79 0 1.222 42868 chr2 217315787 217315787 T C rs2066527 SMARCAL1 Synonymous SNV T690T 0.093 0.083 0.082 38 109 32 0.097 24 7 2 0 1 Benign 9.433 42869 chr2 23918891 23918891 C T rs116699585 KLHL29 Synonymous SNV A604A 0.046 0.039 0.058 15 54 15 0.038 17 0 1 0 0 16.7 42870 chr6 125232072 125232072 T C rs699387 RNF217-AS1 0 0 0.769 0 0 0 0 226 0 0 88 0 4.002 42871 chr6 125232333 125232333 T C rs781739 RNF217-AS1 0 0 0.248 0 0 0 0 73 0 0 10 0 2.491 42872 chr13 40301618 40301618 C T rs144843064 COG6 Nonsynonymous SNV R587C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Uncertain significance 35 42873 chr2 233671277 233671277 G T rs114498122 GIGYF2 Synonymous SNV A566A 0.019 0.031 0.01 4 22 12 0.01 3 0 0 0 0 13.59 42874 chr2 23919207 23919207 G A rs61744252 KLHL29 Synonymous SNV G643G 0.046 0.039 0.058 15 54 15 0.038 17 0 1 0 0 8.325 42875 chr6 125232368 125232368 G T rs781740 RNF217-AS1 0 0 0.769 0 0 0 0 226 0 0 88 0 1.735 42876 chr2 25469628 25469628 C T rs77345627 DNMT3A Synonymous SNV A228A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 10.77 42877 chr6 125232766 125232766 - A rs11385725 RNF217-AS1 0 0 0.544 0 0 0 0 160 0 0 34 0 42878 chr2 219000292 219000292 C T rs11574750 CXCR2 Synonymous SNV V256V 0.057 0.068 0.061 21 67 26 0.054 18 4 0 0 0 9.578 42879 chr2 217724661 217724661 A G rs776944785 TNP1 Nonsynonymous SNV Y33H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 42880 chr6 125232853 125232853 A G rs6569400 RNF217-AS1 0 0 0.752 0 0 0 0 221 0 0 87 0 0.491 42881 chr6 125232934 125232934 C T rs140251164 RNF217-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 9.061 42882 chr2 23926071 23926071 C T rs140516864 KLHL29 Synonymous SNV T707T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 42883 chr6 125233518 125233518 A G rs781742 RNF217-AS1 0 0 0.772 0 0 0 0 227 0 0 88 0 9.01 42884 chr6 126210395 126210395 T G rs6919947 NCOA7 Nonsynonymous SNV S284A 0.422 0.438 0.429 187 495 168 0.479 126 100 37 27 46 0.001 42885 chr6 126249914 126249914 T G rs1567 NCOA7 Nonsynonymous SNV D219E 0.155 0.13 0.143 40 182 50 0.103 42 13 3 1 4 3.18 42886 chr2 218683139 218683139 G A rs34291329 TNS1 Nonsynonymous SNV P1181S 0.09 0.065 0.078 35 106 25 0.09 23 6 0 0 4 10.08 42887 chr2 241401673 241401673 G A rs34976040 GPC1 Nonsynonymous SNV G131R 0.017 0.029 0.014 9 20 11 0.023 4 3 0 0 1 29.9 42888 chr2 219206645 219206645 A G rs62182086 MIR6810 0.069 0.102 0.085 39 81 39 0.1 25 1 5 2 1 1.274 42889 chr6 127768632 127768632 G A rs150477792 KIAA0408 Nonsynonymous SNV P278S 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 7.596 42890 chr13 42874343 42874343 C T rs756745247 AKAP11 Synonymous SNV T487T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 4.663 42891 chr2 241465261 241465261 G A rs35186665 ANKMY1 Synonymous SNV H73H 0.118 0.083 0.099 55 138 32 0.141 29 2 2 0 8 0.104 42892 chr2 241468605 241468605 G T rs72998048 ANKMY1 Nonsynonymous SNV H179N 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 Likely benign 22.8 42893 chr6 128134685 128134685 C G rs10872326 THEMIS Synonymous SNV V367V 0.047 0.031 0.041 12 55 12 0.031 12 1 0 0 0 0.036 42894 chr2 26680980 26680980 C T rs73920281 OTOF Synonymous SNV L1207L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 42895 chr2 241512528 241512528 C T rs772858734 RNPEPL1 Nonsynonymous SNV A224V 0.004 0 0 4 5 0 0.01 0 0 0 0 0 9.304 42896 chr2 241468875 241468875 C T rs35278753 ANKMY1 Nonsynonymous SNV D89N 0.014 0.029 0.014 7 17 11 0.018 4 2 0 0 1 25.4 42897 chr2 26699033 26699033 G A rs73920285 OTOF Synonymous SNV G253G 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign/Likely benign 9.122 42898 chr2 219209592 219209592 C T rs775603840 PNKD Nonsynonymous SNV A325V 0 0 0 0 0 0 0 0 0 0 0 0 19.56 42899 chr2 241534632 241534632 C T rs370726283 CAPN10 Nonsynonymous SNV R397W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.8 42900 chr2 219516457 219516457 C A ZNF142 Nonsynonymous SNV V283F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.78 42901 chr2 219526649 219526649 G A rs58447305 BCS1L Nonsynonymous SNV D43N 0.014 0.008 0.01 8 16 3 0.021 3 1 0 0 0 Benign/Likely benign 18.31 42902 chr2 33759395 33759395 C T rs35933402 RASGRP3 Synonymous SNV S363S 0.103 0.094 0.075 50 121 36 0.128 22 9 1 0 0 11.59 42903 chr6 129963074 129963074 T G rs970677390 ARHGAP18 Nonsynonymous SNV D68A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 42904 chr2 33764176 33764176 A G rs13388394 RASGRP3 Nonsynonymous SNV T392A 0.034 0.031 0.027 10 40 12 0.026 8 3 0 0 0 12.96 42905 chr2 219252630 219252630 C T rs17221959 SLC11A1 Synonymous SNV G249G 0.043 0.034 0.031 11 50 13 0.028 9 0 0 0 0 21.1 42906 chr2 219527866 219527866 T C rs35843327 BCS1L Synonymous SNV P172P 0.065 0.042 0.041 17 76 16 0.044 12 5 0 1 1 Benign 0.125 42907 chr2 33810638 33810638 T C rs74911659 FAM98A Nonsynonymous SNV S88G 0.02 0.016 0.007 4 23 6 0.01 2 0 0 0 0 23.3 42908 chr2 219259732 219259732 G A rs17235409 SLC11A1 Nonsynonymous SNV D543N 0.02 0.021 0.02 7 24 8 0.018 6 0 0 0 0 risk factor 6.682 42909 chr2 219528995 219528995 T C rs13022721 RNF25 Synonymous SNV P355P 0.064 0.042 0.034 17 75 16 0.044 10 5 0 1 1 0.018 42910 chr2 219533378 219533378 T C rs16859170 RNF25 Synonymous SNV V22V 0.065 0.042 0.037 16 76 16 0.041 11 5 0 1 1 5.496 42911 chr2 242045997 242045997 C T rs114285040 PASK Nonsynonymous SNV R1326H 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 Benign 15.25 42912 chr2 26951123 26951123 C T rs764097891 KCNK3 Nonsynonymous SNV A291V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 8.183 42913 chr2 219492820 219492820 T G rs200161654 PLCD4 Nonsynonymous SNV F281V 0 0 0 0 0 0 0 0 0 0 0 0 28.4 42914 chr14 60070631 60070631 G A rs150666088 RTN1 Synonymous SNV V124V 0 0 0 0 0 0 0 0 0 0 0 0 11.79 42915 chr2 219561929 219561929 T C rs56148168 STK36 Synonymous SNV S897S 0.014 0.01 0.01 8 16 4 0.021 3 1 0 0 0 1.533 42916 chr14 60519804 60519804 C G rs888923536 LRRC9 Nonsynonymous SNV R1338G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 42917 chr2 186658977 186658977 C A rs752607678 FSIP2 Nonsynonymous SNV Q2372K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.42 42918 chr2 27260540 27260540 C A rs77468296 TMEM214 Synonymous SNV T329T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 21.2 42919 chr2 37111123 37111123 G A rs80243841 STRN Nonsynonymous SNV P380S 0.034 0.031 0.031 14 40 12 0.036 9 1 0 1 0 14.89 42920 chr6 1313078 1313078 G A rs78460560 FOXQ1 Nonsynonymous SNV A47T 0.147 0.096 0.143 46 172 37 0.118 42 19 1 4 4 17.37 42921 chr2 219736369 219736369 C G rs141494427 WNT6 Nonsynonymous SNV P155R 0.118 0.086 0.085 38 138 33 0.097 25 12 1 1 2 18.57 42922 chr2 37227797 37227797 C G rs62621396 HEATR5B Nonsynonymous SNV G1826A 0.072 0.057 0.092 33 84 22 0.085 27 5 1 1 2 14.42 42923 chr2 219883882 219883882 C T rs189561241 CFAP65 Nonsynonymous SNV V1165I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.941 42924 chr2 3729254 3729254 C T rs13426642 ALLC Nonsynonymous SNV T110I 0.187 0.18 0.19 82 220 69 0.21 56 17 8 6 9 1.131 42925 chr2 24240369 24240369 G A rs369613796 MFSD2B Nonsynonymous SNV V198I 0.003 0 0 0 3 0 0 0 0 0 0 0 1.86 42926 chr6 1313470 1313470 C T rs4435985 FOXQ1 Synonymous SNV F177F 0.181 0.148 0.177 57 212 57 0.146 52 21 2 4 4 13.66 42927 chr6 1313952 1313952 A G rs992327 FOXQ1 Nonsynonymous SNV E338G 0.244 0.242 0.388 98 287 93 0.251 114 94 31 29 23 Benign 0.005 42928 chr2 220039506 220039506 A G rs151314580 CNPPD1 Synonymous SNV S168S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.123 42929 chr2 27360856 27360856 G T rs13427842 PRR30 Synonymous SNV S114S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.07 42930 chr6 1313980 1313980 C G rs147255181 FOXQ1 Synonymous SNV P347P 0.177 0.154 0.211 61 208 59 0.156 62 63 16 16 11 Likely benign 6.786 42931 chr2 27360998 27360998 G A rs75770831 PRR30 Nonsynonymous SNV P67L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 42932 chr6 131520655 131520655 G A rs1190788 AKAP7 Nonsynonymous SNV S215N 0.425 0.396 0.361 152 499 152 0.39 106 93 28 20 34 22.4 42933 chr2 27423913 27423913 G A rs61737373 SLC5A6 Nonsynonymous SNV L573F 0.094 0.086 0.082 26 110 33 0.067 24 3 3 1 0 18.81 42934 chr6 132172368 132172368 A C rs1044498 ENPP1 Nonsynonymous SNV K173Q 0.174 0.169 0.156 82 204 65 0.21 46 23 5 5 8 Benign 9.183 42935 chr2 241991875 241991875 G A rs57214830 SNED1 Synonymous SNV R691R 0.174 0.185 0.16 67 204 71 0.172 47 19 6 7 6 12.86 42936 chr2 234708868 234708868 G C rs11563246 MROH2A Nonsynonymous SNV K489N 0.047 0.029 0.054 20 55 11 0.051 16 0 0 1 0 3.854 42937 chr2 24262060 24262060 G A rs3731620 WDCP Nonsynonymous SNV T102M 0.106 0.089 0.085 41 124 34 0.105 25 5 0 4 1 5.817 42938 chr2 27430237 27430237 T C rs56970590 SLC5A6 Synonymous SNV R94R 0.061 0.068 0.065 15 72 26 0.038 19 2 2 0 0 5.635 42939 chr14 61747594 61747594 G A rs137950125 TMEM30B Nonsynonymous SNV P91L 0.039 0.049 0.048 12 46 19 0.031 14 0 0 0 0 0.068 42940 chr2 242021129 242021129 C T rs115670411 SNED1 Synonymous SNV N1318N 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 10.81 42941 chr6 132722527 132722527 G A rs77906164 MOXD1 Synonymous SNV L13L 0.191 0.203 0.177 81 224 78 0.208 52 21 6 8 5 7.843 42942 chr2 27439751 27439751 G T rs7437 ATRAID Nonsynonymous SNV A209S 0.061 0.068 0.065 15 72 26 0.038 19 2 2 0 0 13.58 42943 chr2 242029426 242029426 G A rs62187374 MTERF4 Nonsynonymous SNV A237V 0.076 0.086 0.085 24 89 33 0.062 25 1 1 3 0 4.774 42944 chr13 48612005 48612005 C A rs138959770 NUDT15 Synonymous SNV G41G 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 0 19.44 42945 chr2 27445518 27445518 A G rs60463044 CAD Synonymous SNV L209L 0.061 0.068 0.065 15 72 26 0.038 19 2 2 0 0 9.784 42946 chr6 133013544 133013544 T C rs45562238 VNN1 Nonsynonymous SNV T336A 0.037 0.042 0.024 14 43 16 0.036 7 2 0 0 0 0.001 42947 chr2 220083239 220083239 G A rs958830633 ABCB6 Nonsynonymous SNV R53W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 42948 chr13 48939088 48939088 C T rs183898408 RB1 Nonsynonymous SNV T307I 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign/Likely benign 22.9 42949 chr2 27449440 27449440 G A rs61737363 CAD Synonymous SNV L630L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 12.88 42950 chr2 242036797 242036797 A G rs2286323 MTERF4 Star tloss M1? 0.075 0.086 0.088 24 88 33 0.062 26 1 1 3 0 13.79 42951 chr2 27459364 27459364 T C rs10193746 CAD Synonymous SNV D1366D 0.026 0.016 0.014 8 30 6 0.021 4 1 0 0 0 8.334 42952 chr2 27462651 27462651 T C rs61741874 CAD Synonymous SNV T1764T 0.07 0.076 0.065 19 82 29 0.049 19 4 2 0 1 7.038 42953 chr2 27478231 27478231 A G rs13390228 SLC30A3 Synonymous SNV Y359Y 0.026 0.016 0.014 8 30 6 0.021 4 1 0 0 0 1.382 42954 chr2 220113159 220113159 C T rs17849638 STK16 Nonsynonymous SNV R234W 0.026 0.029 0.003 4 30 11 0.01 1 0 1 0 0 26.5 42955 chr2 39187217 39187217 G T rs183623259 ARHGEF33 Nonsynonymous SNV V591L 0.025 0.031 0.01 8 29 12 0.021 3 0 0 0 0 17.06 42956 chr2 27481652 27481652 A C rs1992290 SLC30A3 Synonymous SNV V69V 0.026 0.016 0.014 8 30 6 0.021 4 1 0 0 0 0.689 42957 chr2 24300563 24300563 T C rs10209238 TP53I3 Nonsynonymous SNV T230A 0.106 0.089 0.085 41 125 34 0.105 25 5 0 4 1 6.579 42958 chr2 234741808 234741808 C T rs2270856 MROH2A Nonsynonymous SNV P1645L 0.111 0.089 0.143 62 130 34 0.159 42 11 3 2 4 23.1 42959 chr6 133073811 133073811 C A rs34492437 VNN2 Nonsynonymous SNV R205S 0.019 0.026 0.01 6 22 10 0.015 3 0 0 0 0 23.2 42960 chr2 39239286 39239286 G T rs142004123 SOS1 Nonsynonymous SNV L791I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 22.8 42961 chr2 220342004 220342004 G A rs45519033 SPEG Synonymous SNV E1522E 0.045 0.049 0.061 15 53 19 0.038 18 2 0 0 0 Benign 10.71 42962 chr6 133777731 133777731 C T rs754088992 EYA4 Synonymous SNV S82S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 42963 chr6 134142606 134142606 A G rs62424063 LINC01312 0 0 0.214 0 0 0 0 63 0 0 8 0 2.788 42964 chr6 134142660 134142660 C T rs942132 LINC01312 0 0 0.796 0 0 0 0 234 0 0 93 0 5.891 42965 chr6 134435969 134435969 G A rs6916139 HMGA1P7 0 0 0.265 0 0 0 0 78 0 0 16 0 2.817 42966 chr6 134495194 134495194 C G rs754829897 SGK1 Nonsynonymous SNV K87N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 42967 chr14 64408645 64408645 A G rs146748294 SYNE2 Nonsynonymous SNV I94V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 24.8 42968 chr6 135263557 135263557 C A rs3813342 ALDH8A1 Synonymous SNV P144P 0.079 0.091 0.105 32 93 35 0.082 31 3 1 0 3 12.1 42969 chr13 50140824 50140824 T G rs138308390 RCBTB1 Nonsynonymous SNV E69D 0.011 0.01 0.003 5 13 4 0.013 1 0 0 0 0 Benign 12.8 42970 chr6 13599303 13599303 C T rs3757261 SIRT5 Synonymous SNV H201H 0.307 0.279 0.293 109 361 107 0.279 86 48 16 13 17 14.65 42971 chr2 42931409 42931409 G A rs369666615 MTA3 Synonymous SNV T303T 0.008 0.01 0.003 7 9 4 0.018 1 0 0 0 0 15.01 42972 chr2 220354542 220354542 G A rs55969678 SPEG Synonymous SNV P2934P 0.043 0.049 0.065 16 51 19 0.041 19 2 0 0 0 4.832 42973 chr2 189899700 189899700 T A rs141777954 COL5A2 Nonsynonymous SNV D1432V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 24.8 42974 chr2 27822454 27822454 A C rs11539164 ZNF512 Synonymous SNV S17S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 16.64 42975 chr6 137815120 137815120 G A rs62434134 OLIG3 Nonsynonymous SNV A63V 0.011 0.029 0.027 3 13 11 0.008 8 0 0 0 0 15.36 42976 chr2 43547672 43547672 G A rs17334247 THADA Nonsynonymous SNV P1451S 0.003 0.008 0.014 0 4 3 0 4 0 0 0 0 Benign 24.4 42977 chr2 189899755 189899755 C T rs139229616 COL5A2 Nonsynonymous SNV D1414N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 24.4 42978 chr2 220361590 220361590 - A rs11437065 SPEGNB Frameshift insertion V64Gfs*26 0.039 0.044 0.061 12 46 17 0.031 18 2 0 0 0 42979 chr2 27865325 27865325 A G rs6718955 GPN1 Synonymous SNV E195E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.878 42980 chr6 138428379 138428379 G A rs145663845 PERP Synonymous SNV R33R 0.021 0.026 0.014 3 25 10 0.008 4 1 0 0 0 Benign 12.6 42981 chr2 24244603 24244603 G A rs115334231 MFSD2B Nonsynonymous SNV R256Q 0.058 0.042 0.075 20 68 16 0.051 22 0 1 1 0 10.08 42982 chr2 27883958 27883958 C T rs6756254 SUPT7L Synonymous SNV S104S 0.01 0.005 0.01 4 12 2 0.01 3 0 0 0 0 15.86 42983 chr2 27886820 27886820 G T rs58106741 SLC4A1AP Synonymous SNV S67S 0.01 0.005 0.01 4 12 2 0.01 3 0 0 0 0 8.52 42984 chr6 138727166 138727166 T G rs140459982 HEBP2 Synonymous SNV P110P 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 3.997 42985 chr6 139017780 139017780 G A rs4348337 FLJ46906 0 0 0.153 0 0 0 0 45 0 0 3 0 2.286 42986 chr2 44004010 44004010 T C rs2288709 DYNC2LI1 Nonsynonymous SNV F33S 0.416 0.396 0.408 155 488 152 0.397 120 110 30 25 28 15.71 42987 chr2 238247734 238247734 C G rs36104025 COL6A3 Nonsynonymous SNV D2224H 0.089 0.091 0.116 39 105 35 0.1 34 5 2 3 4 Benign 22.9 42988 chr6 139094629 139094629 - GG rs111500978 GVQW2 0.06 0.089 0.085 35 71 34 0.09 25 4 3 1 4 42989 chr2 29093075 29093075 G C rs142184846 TRMT61B Nonsynonymous SNV F23L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.361 42990 chr6 139164181 139164181 T C rs55646272 ECT2L Synonymous SNV N136N 0.014 0.005 0.014 13 16 2 0.033 4 0 0 0 0 2.94 42991 chr2 238253065 238253065 C T rs2291795 COL6A3 Synonymous SNV K1925K 0.106 0.109 0.133 44 125 42 0.113 39 6 2 3 4 Benign 12.69 42992 chr2 29129418 29129418 A G rs11688605 WDR43 Synonymous SNV E152E 0.206 0.188 0.194 94 242 72 0.241 57 22 9 5 15 1.658 42993 chr2 44102491 44102491 C T rs4148221 ABCG8 Synonymous SNV A564A 0.143 0.141 0.187 82 168 54 0.21 55 11 4 9 10 Benign 10.03 42994 chr6 139563914 139563914 C G rs9495391 TXLNB Nonsynonymous SNV A602P 0.36 0.354 0.296 136 423 136 0.349 87 72 29 14 25 17.76 42995 chr2 26409164 26409164 A G GAREM2 Nonsynonymous SNV K435R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.83 42996 chr2 238733016 238733016 G A rs4663795 RBM44 Synonymous SNV Q802Q 0.129 0.117 0.129 40 151 45 0.103 38 12 2 1 0 2.226 42997 chr6 141004964 141004964 - T rs5880480 MIR4465 0 0 0.997 0 0 0 0 293 0 0 146 0 42998 chr2 26483897 26483897 G T rs138809384 HADHB Synonymous SNV L3L 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 1.827 42999 chr6 142688956 142688956 A G rs140723393 ADGRG6 Synonymous SNV L118L 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 Benign 6.611 43000 chr2 44528268 44528268 T - rs796262035 SLC3A1 0.106 0.109 0.065 39 125 42 0.1 19 10 0 1 2 43001 chr2 44549967 44549967 T C rs74395208 PREPL Synonymous SNV A579A 0.017 0.018 0.003 7 20 7 0.018 1 0 0 0 0 Benign 6.333 43002 chr2 29240131 29240131 T C rs201148338 TOGARAM2 Nonsynonymous SNV S386P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.09 43003 chr2 44550435 44550435 T C rs111438719 PREPL Nonsynonymous SNV K559R 0.017 0.018 0.003 7 20 7 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.63 43004 chr6 142703137 142703137 C T rs2143390 ADGRG6 Synonymous SNV D373D 0.089 0.096 0.088 38 105 37 0.097 26 4 3 1 2 11.32 43005 chr2 26536411 26536411 G A rs770751881 ADGRF3 Nonsynonymous SNV S237L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.756 43006 chr2 29240132 29240132 C T rs61750881 TOGARAM2 Nonsynonymous SNV S386F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.63 43007 chr2 44566301 44566301 T C rs113272276 PREPL Synonymous SNV E318E 0.017 0.018 0.003 7 20 7 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.085 43008 chr2 45640334 45640334 T C rs3755072 SRBD1 Nonsynonymous SNV K811R 0.104 0.089 0.116 25 122 34 0.064 34 9 2 2 0 23.7 43009 chr6 143090734 143090734 T C rs34530989 HIVEP2 Synonymous SNV G1714G 0.269 0.206 0.276 125 316 79 0.321 81 50 9 13 20 0.01 43010 chr2 45879305 45879305 C T rs35135425 PRKCE Synonymous SNV A22A 0.015 0.016 0.024 6 18 6 0.015 7 1 0 0 0 14.41 43011 chr2 242758281 242758281 A G rs753523319 NEU4 Synonymous SNV T467T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.05 43012 chr2 239036270 239036270 C T rs13382446 ESPNL Synonymous SNV S2S 0.147 0.148 0.153 45 172 57 0.115 45 13 3 5 0 9.522 43013 chr2 239038829 239038829 C G rs140347701 ESPNL Nonsynonymous SNV Q124E 0.005 0.008 0 7 6 3 0.018 0 0 0 0 0 4.911 43014 chr13 73352417 73352417 - T rs553127065 DIS3 M40Nfs*15 0.003 0.01 0.007 2 3 4 0.005 2 0 0 0 0 43015 chr6 143091769 143091769 G A rs34947356 HIVEP2 Synonymous SNV V1369V 0.262 0.206 0.276 125 308 79 0.321 81 47 9 13 20 6.234 43016 chr2 26702508 26702508 G A rs72853741 OTOF Synonymous SNV N642N 0.026 0.018 0.024 14 30 7 0.036 7 1 0 0 0 Benign 9.287 43017 chr2 46378209 46378209 C T rs1143692 PRKCE Synonymous SNV S587S 0.075 0.063 0.061 39 88 24 0.1 18 4 0 0 3 16.48 43018 chr6 143825104 143825104 G T rs11155297 FUCA2 Nonsynonymous SNV A233E 0.297 0.266 0.241 102 349 102 0.262 71 55 11 8 17 22.8 43019 chr2 26712089 26712089 G A rs138885901 OTOF Synonymous SNV Y345Y 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.923 43020 chr2 220419340 220419340 G A rs116131367 OBSL1 Stop gain Q1578X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 40 43021 chr2 47177617 47177617 C T rs61738825 TTC7A Synonymous SNV S100S 0.086 0.078 0.099 43 101 30 0.11 29 3 3 3 1 Benign 17.63 43022 chr2 29295389 29295389 G A rs10166913 PCARE Nonsynonymous SNV T580M 0.063 0.091 0.088 25 74 35 0.064 26 4 1 0 2 Benign/Likely benign 23.9 43023 chr6 145051594 145051594 G A rs4305737 UTRN Synonymous SNV E2637E 0.191 0.247 0.262 84 224 95 0.215 77 42 23 8 15 9.339 43024 chr6 146056476 146056476 G C rs2235482 EPM2A Synonymous SNV A53A 0.552 0.544 0.415 205 648 209 0.526 122 189 63 41 49 Benign 1.623 43025 chr2 239040065 239040065 G A rs200773816 ESPNL Nonsynonymous SNV V536M 0.005 0.008 0 7 6 3 0.018 0 0 0 0 0 27.7 43026 chr2 29296449 29296449 C T rs114057537 PCARE Nonsynonymous SNV E227K 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 23.8 43027 chr2 47797123 47797123 G A rs139772114 KCNK12 Synonymous SNV F116F 0.049 0.057 0.031 31 58 22 0.079 9 3 2 2 3 11.99 43028 chr2 220422686 220422686 C T rs72957510 OBSL1 Nonsynonymous SNV E1217K 0.009 0 0.017 1 11 0 0.003 5 0 0 0 0 Benign/Likely benign 16.43 43029 chr2 29297091 29297091 T A rs10084168 PCARE Nonsynonymous SNV S13C 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 Benign 24.4 43030 chr14 65268510 65268510 C T rs74666863 SPTB Synonymous SNV K203K 0.028 0.008 0.01 14 33 3 0.036 3 0 0 0 1 Likely benign 16.65 43031 chr6 146720515 146720515 C T rs41285861 GRM1 Synonymous SNV N780N 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 9.347 43032 chr2 29404441 29404441 G A rs35300134 CLIP4 Synonymous SNV S600S 0.053 0.029 0.048 20 62 11 0.051 14 1 0 1 0 10.37 43033 chr13 76381855 76381855 G C rs372735020 LMO7 Nonsynonymous SNV R152P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23 43034 chr2 29416750 29416750 A G rs55772745 ALK Synonymous SNV Y333Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 0.006 43035 chr2 239056591 239056591 C T rs200898308 KLHL30 Nonsynonymous SNV R423W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 34 43036 chr2 24930055 24930055 A T rs142018995 NCOA1 Nonsynonymous SNV R572S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.13 43037 chr2 29445425 29445425 G A rs56146053 ALK Synonymous SNV S68S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 12.93 43038 chr2 27324669 27324669 C T rs61753362 CGREF1 Nonsynonymous SNV G144R 0.035 0.029 0.027 11 41 11 0.028 8 0 0 0 0 20.3 43039 chr2 197157445 197157445 C T rs61744647 HECW2 Synonymous SNV T592T 0.04 0.026 0.071 12 47 10 0.031 21 2 0 0 0 18 43040 chr13 77834627 77834627 A C rs61749893 MYCBP2 Synonymous SNV S651S 0.046 0.047 0.017 17 54 18 0.044 5 1 1 0 0 0.095 43041 chr2 197521750 197521750 G A rs34133636 CCDC150 Nonsynonymous SNV E156K 0.097 0.078 0.085 50 114 30 0.128 25 4 1 0 5 23.6 43042 chr2 197578370 197578370 T C rs919142061 CCDC150 Nonsynonymous SNV I18T 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 0.684 43043 chr2 197643774 197643774 T C rs764323881 GTF3C3 Synonymous SNV L412L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.916 43044 chr2 197662526 197662526 T C rs11559078 GTF3C3 Nonsynonymous SNV N70S 0.112 0.115 0.095 62 131 44 0.159 28 7 3 1 5 0.008 43045 chr2 27353507 27353507 G C rs2304678 ABHD1 Nonsynonymous SNV W371C 0.205 0.177 0.177 86 241 68 0.221 52 26 6 5 8 12.85 43046 chr14 68251991 68251991 G A rs3742885 ZFYVE26 Nonsynonymous SNV P1103L 0.019 0.029 0.024 5 22 11 0.013 7 0 0 0 0 Benign/Likely benign 13.5 43047 chr2 27355991 27355991 G T rs2289358 PREB Synonymous SNV V108V 0.204 0.18 0.18 85 239 69 0.218 53 26 6 5 8 8.122 43048 chr6 150052765 150052765 C T rs61756083 NUP43 Synonymous SNV S299S 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 Benign 20.3 43049 chr6 150174278 150174278 A C rs61745766 LRP11 Nonsynonymous SNV L211R 0.035 0.018 0.037 13 41 7 0.033 11 0 0 1 0 15.25 43050 chr13 95228593 95228593 A G rs141222845 TGDS Synonymous SNV P287P 0.01 0.013 0 6 12 5 0.015 0 0 0 0 0 7.369 43051 chr14 68274253 68274253 C T rs200340910 ZFYVE26 Nonsynonymous SNV E250K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 21.3 43052 chr2 27438615 27438615 G C rs11556165 ATRAID Nonsynonymous SNV D161H 0.013 0.016 0.014 6 15 6 0.015 4 0 0 0 0 6.285 43053 chr6 150390118 150390118 C T rs113233347 ULBP3 Nonsynonymous SNV A29T 0.141 0.164 0.126 39 166 63 0.1 37 13 4 4 2 10.76 43054 chr2 27459622 27459622 A G rs760485703 CAD Synonymous SNV L1377L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.557 43055 chr2 54858664 54858664 C T rs2229503 SPTBN1 Synonymous SNV N1147N 0.227 0.211 0.133 74 267 81 0.19 39 31 8 6 8 10.49 43056 chr2 241516094 241516094 G C rs34344571 RNPEPL1 Synonymous SNV S551S 0.052 0.057 0.044 27 61 22 0.069 13 4 1 0 1 0.058 43057 chr2 220502415 220502415 C T SLC4A3 Nonsynonymous SNV P910L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.95 43058 chr2 26798927 26798927 C G rs112873448 FAM166C Nonsynonymous SNV P78A 0.032 0.026 0.014 13 37 10 0.033 4 1 0 0 0 17.18 43059 chr2 225750861 225750861 C T rs2304336 DOCK10 Synonymous SNV A171A 0.142 0.146 0.153 47 167 56 0.121 45 15 3 1 2 12.34 43060 chr6 151336739 151336739 C G rs509474 MTHFD1L Synonymous SNV S124S 0.515 0.5 0.561 195 605 192 0.5 165 157 42 47 55 8.948 43061 chr2 241531483 241531483 C A CAPN10 Nonsynonymous SNV R202S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.089 43062 chr2 27167617 27167617 G A rs41288789 DPYSL5 Nonsynonymous SNV A512T 0.057 0.086 0.041 16 67 33 0.041 12 4 1 0 0 22.5 43063 chr2 227661003 227661003 C G rs41265094 IRS1 Nonsynonymous SNV G818R 0.008 0.016 0 2 9 6 0.005 0 0 0 0 0 Likely benign 24.1 43064 chr13 99358401 99358401 C G rs4646227 SLC15A1 Nonsynonymous SNV G419A 0.036 0.039 0.037 13 42 15 0.033 11 0 0 1 0 0.001 43065 chr2 55476591 55476591 G A rs2576709 MTIF2 Synonymous SNV Y307Y 0.046 0.055 0.061 23 54 21 0.059 18 1 1 0 1 10.88 43066 chr6 151673070 151673070 G A rs41289373 AKAP12 Nonsynonymous SNV A1077T 0.022 0.026 0.054 11 26 10 0.028 16 1 1 2 0 0.066 43067 chr2 241569585 241569585 C T rs35155396 GPR35 Synonymous SNV T72T 0.026 0.026 0.017 9 31 10 0.023 5 0 0 0 0 7.153 43068 chr2 202252478 202252478 A G rs35620793 TRAK2 Synonymous SNV S548S 0.09 0.102 0.051 23 106 39 0.059 15 4 3 0 2 10.37 43069 chr2 241569849 241569849 C T rs12468377 GPR35 Synonymous SNV G160G 0.052 0.055 0.037 29 61 21 0.074 11 3 1 0 0 2.094 43070 chr2 241570092 241570092 C T rs12468453 GPR35 Synonymous SNV L241L 0.053 0.055 0.041 32 62 21 0.082 12 3 1 0 0 10.61 43071 chr2 241570127 241570127 C T rs12468485 GPR35 Nonsynonymous SNV T253M 0.052 0.055 0.037 29 61 21 0.074 11 3 1 0 0 3.154 43072 chr2 55826059 55826059 T G rs142053846 PPP4R3B Nonsynonymous SNV E138D 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 21.9 43073 chr2 27804850 27804850 G A rs190786540 C2orf16 Nonsynonymous SNV R1804K 0.012 0.003 0.007 2 14 1 0.005 2 0 0 0 0 4.86 43074 chr6 151789912 151789912 C T rs9397054 ARMT1 Synonymous SNV H212H 0.129 0.094 0.102 45 151 36 0.115 30 16 0 4 1 10.11 43075 chr2 56144930 56144930 T C rs14282 EFEMP1 Synonymous SNV E129E 0.038 0.042 0.065 18 45 16 0.046 19 3 0 1 0 Benign 0.795 43076 chr13 100518634 100518634 C T rs41281112 CLYBL Stop gain R259X 0.022 0.021 0.024 8 26 8 0.021 7 1 0 0 0 35 43077 chr13 100622668 100622676 GGCGGCGGC - rs759482702 ZIC5 P422_P424del 0.014 0.008 0.007 5 17 3 0.013 2 0 0 0 1 43078 chr2 241813453 241813453 G A rs33958047 AGXT Synonymous SNV S218S 0.09 0.099 0.109 39 106 38 0.1 32 5 0 1 2 Benign/Likely benign 5.284 43079 chr2 37319156 37319156 A C rs62621388 GPATCH11 Nonsynonymous SNV E35D 0.027 0.044 0.037 11 32 17 0.028 11 0 0 0 0 10.63 43080 chr13 100982897 100982897 C T PCCA Synonymous SNV L430L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.71 43081 chr2 28855840 28855840 C T rs3752902 PLB1 Synonymous SNV S1333S 0.035 0.034 0.027 20 41 13 0.051 8 1 0 2 0 16.8 43082 chr2 241827798 241827798 T C rs11899555 MAB21L4 Nonsynonymous SNV I388V 0.084 0.094 0.105 35 99 36 0.09 31 4 0 1 2 0.001 43083 chr2 60689522 60689522 G A rs61748090 BCL11A Synonymous SNV C141C 0.018 0.018 0.031 11 21 7 0.028 9 0 0 0 1 5.246 43084 chr2 27590666 27590666 C T rs41288829 EIF2B4 Synonymous SNV P264P 0.014 0.023 0.02 10 17 9 0.026 6 0 1 0 0 Benign 7.993 43085 chr2 203831795 203831795 G A CARF Synonymous SNV Q221Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.674 43086 chr2 241834907 241834907 C T rs4359646 MAB21L4 Nonsynonymous SNV A170T 0.088 0.099 0.102 37 103 38 0.095 30 4 0 1 2 0.002 43087 chr13 102235608 102235608 C T rs140688507 ITGBL1 Nonsynonymous SNV P116L 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 23.9 43088 chr2 38301847 38301847 C T rs57865060 CYP1B1 Nonsynonymous SNV E229K 0.026 0.031 0.017 9 31 12 0.023 5 0 0 0 0 Conflicting interpretations of pathogenicity, other 26.7 43089 chr6 152555935 152555935 T C rs778905003 SYNE1 Synonymous SNV R6728R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.665 43090 chr2 228197228 228197228 G A rs368093027 MFF Nonsynonymous SNV R92H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 43091 chr2 27804203 27804203 G A rs200450830 C2orf16 Synonymous SNV R1588R 0.012 0.008 0.003 1 14 3 0.003 1 0 0 0 0 3.404 43092 chr2 203995078 203995078 G A rs189753012 NBEAL1 Nonsynonymous SNV R1119H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 16.82 43093 chr2 27804879 27804879 C T rs202081293 C2orf16 Nonsynonymous SNV R1814C 0.011 0.005 0 0 13 2 0 0 0 0 0 0 17.58 43094 chr2 62065759 62065759 C T rs6545910 FAM161A Synonymous SNV L555L 0.096 0.104 0.102 35 113 40 0.09 30 2 2 2 2 14.27 43095 chr13 103383772 103383772 A C rs72653638 CCDC168 Synonymous SNV L6425L 0.025 0.031 0.024 6 29 12 0.015 7 0 0 0 0 0.005 43096 chr2 28821613 28821613 C T rs35746006 PLB1 Synonymous SNV P809P 0.089 0.07 0.068 39 105 27 0.1 20 5 0 2 3 15.01 43097 chr6 152708310 152708310 G A rs214950 SYNE1 Nonsynonymous SNV A2802V 0.249 0.25 0.286 92 292 96 0.236 84 40 12 14 13 Benign 7.324 43098 chr2 228884686 228884686 G A rs61752226 SPHKAP Nonsynonymous SNV A295V 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 0.002 43099 chr2 63283178 63283178 C G rs17850223 OTX1 Synonymous SNV L264L 0.163 0.172 0.184 63 191 66 0.162 54 14 4 7 6 7.69 43100 chr6 152746593 152746593 A T rs111250109 SYNE1 Nonsynonymous SNV D1737E 0.063 0.042 0.075 25 74 16 0.064 22 6 0 0 1 Benign 0.213 43101 chr2 28827625 28827625 C T rs34289907 PLB1 Nonsynonymous SNV A976V 0.087 0.068 0.068 39 102 26 0.1 20 5 0 2 3 21.7 43102 chr2 64327544 64327544 G T rs329498 PELI1 Synonymous SNV T97T 0.295 0.284 0.293 109 346 109 0.279 86 52 18 13 11 11.66 43103 chr2 39158297 39158297 C G rs199921991 ARHGEF33 Nonsynonymous SNV A137G 0.014 0.013 0 7 17 5 0.018 0 0 0 0 0 11.42 43104 chr6 152771849 152771849 G A rs17082701 SYNE1 Synonymous SNV H1109H 0.068 0.047 0.092 30 80 18 0.077 27 7 0 1 2 Benign 1.324 43105 chr2 64327592 64327592 T C rs329497 PELI1 Synonymous SNV L81L 0.295 0.284 0.293 109 346 109 0.279 86 52 18 13 11 8.759 43106 chr6 152777095 152777095 A C rs17082709 SYNE1 Nonsynonymous SNV L892V 0.067 0.044 0.092 30 79 17 0.077 27 7 0 1 2 Benign 8.803 43107 chr2 67631129 67631129 G A rs35777125 ETAA1 Nonsynonymous SNV G439R 0.093 0.076 0.092 44 109 29 0.113 27 3 2 2 3 0.037 43108 chr2 42275726 42275726 C G rs11891679 PKDCC Synonymous SNV R129R 0.299 0.286 0.296 101 351 110 0.259 87 52 17 18 14 12.32 43109 chr2 67631395 67631395 G A rs10496153 ETAA1 Synonymous SNV R527R 0.095 0.076 0.099 45 112 29 0.115 29 3 2 2 3 2.264 43110 chr14 75266207 75266207 G C rs775149037 YLPM1 Nonsynonymous SNV D1403H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 43111 chr6 153365112 153365112 G A rs41292882 RGS17 Synonymous SNV A14A 0.057 0.047 0.048 24 67 18 0.062 14 1 1 0 0 12.81 43112 chr2 67632214 67632214 C T rs1063571 ETAA1 Synonymous SNV C800C 0.093 0.076 0.099 44 109 29 0.113 29 3 2 2 3 9.522 43113 chr2 677295 677295 C T rs3210390 TMEM18 Synonymous SNV V17V 0.089 0.094 0.109 34 105 36 0.087 32 4 1 1 1 8.918 43114 chr2 68740335 68740335 C G rs35925899 APLF Synonymous SNV T155T 0.028 0.023 0.007 10 33 9 0.026 2 1 0 0 0 6.249 43115 chr6 154481048 154481048 G A rs116489715 IPCEF1 Nonsynonymous SNV A411V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.51 43116 chr2 242432775 242432775 G A rs147747781 FARP2 Nonsynonymous SNV G988D 0.002 0 0 0 2 0 0 0 0 0 0 0 23 43117 chr2 69709919 69709919 A G rs6721259 AAK1 Synonymous SNV S797S 0.178 0.174 0.197 81 209 67 0.208 58 14 4 8 9 10.81 43118 chr6 15513503 15513503 C T rs773469801 JARID2 Synonymous SNV F928F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 43119 chr2 69741801 69741801 C T rs6757825 AAK1 Synonymous SNV Q526Q 0.167 0.161 0.19 69 196 62 0.177 56 11 1 7 6 11.06 43120 chr6 155143502 155143502 A G rs75282196 SCAF8 Nonsynonymous SNV T629A 0.016 0.01 0.007 1 19 4 0.003 2 0 1 0 0 21 43121 chr2 207310135 207310135 A G rs61753552 ADAM23 Nonsynonymous SNV M107V 0.004 0.013 0.003 3 5 5 0.008 1 0 0 0 0 Likely benign 0.001 43122 chr6 155153131 155153131 G A rs34353222 SCAF8 Synonymous SNV V806V 0.015 0.023 0.014 10 18 9 0.026 4 1 0 0 0 10.21 43123 chr2 43797619 43797619 C T rs17031056 THADA Nonsynonymous SNV V699I 0.241 0.276 0.265 101 283 106 0.259 78 30 12 12 15 20.7 43124 chr6 155153307 155153307 G A rs34802160 SCAF8 Nonsynonymous SNV S865N 0.016 0.023 0.017 10 19 9 0.026 5 1 0 0 0 1.908 43125 chr2 69746296 69746296 C T rs7603932 AAK1 Synonymous SNV P429P 0.084 0.073 0.078 28 99 28 0.072 23 6 0 1 1 17.95 43126 chr2 70485320 70485320 C T rs11556184 PCYOX1 Synonymous SNV L8L 0.054 0.055 0.071 27 63 21 0.069 21 3 2 0 1 12.24 43127 chr2 231327220 231327220 G A rs75519436 SP100 Synonymous SNV P323P 0.009 0.016 0.003 8 11 6 0.021 1 0 1 0 0 7.172 43128 chr2 242690745 242690745 C T rs1105273 D2HGDH Nonsynonymous SNV A227V 0.075 0.063 0.099 18 88 24 0.046 29 2 0 2 1 Benign/Likely benign 0.008 43129 chr2 32641040 32641040 C T rs34996177 BIRC6 Nonsynonymous SNV T894M 0.021 0.034 0.044 10 25 13 0.026 13 1 1 0 1 15.62 43130 chr2 31590917 31590917 T C rs17011368 XDH Nonsynonymous SNV I703V 0.032 0.026 0.024 7 37 10 0.018 7 0 0 0 0 Benign/Likely benign 23.1 43131 chr2 232390027 232390027 G A rs773347918 NMUR1 Synonymous SNV H336H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.324 43132 chr2 31593265 31593265 T C rs17323225 XDH Nonsynonymous SNV I646V 0.026 0.023 0.024 6 30 9 0.015 7 0 0 0 0 Likely benign 0.001 43133 chr2 232952256 232952256 C T rs73001172 DIS3L2 Synonymous SNV P142P 0.022 0.01 0.007 3 26 4 0.008 2 0 0 0 0 Benign 17.2 43134 chr2 233127979 233127979 T C rs72998118 DIS3L2 Synonymous SNV H496H 0.024 0.016 0.007 3 28 6 0.008 2 0 0 0 0 Benign 2.976 43135 chr2 71351403 71351403 C A rs6748672 MCEE Nonsynonymous SNV R104L 0.165 0.156 0.163 54 194 60 0.138 48 18 5 1 0 Benign 19.59 43136 chr2 71351487 71351487 G A rs11541017 MCEE Nonsynonymous SNV A76V 0.399 0.38 0.405 154 468 146 0.395 119 93 28 28 31 Benign 9.567 43137 chr2 47637365 47637365 G C rs63750255 MSH2 Nonsynonymous SNV D167H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 28.9 43138 chr2 71360282 71360282 G A rs13010513 MPHOSPH10 Nonsynonymous SNV R115H 0.165 0.156 0.163 54 194 60 0.138 48 19 5 1 0 16.74 43139 chr6 158924595 158924595 A G rs3749853 TULP4 Synonymous SNV Q1300Q 0.162 0.167 0.17 82 190 64 0.21 50 15 5 5 3 0.002 43140 chr2 233413648 233413648 G A rs72991949 TIGD1 Synonymous SNV Y315Y 0.037 0.047 0.061 21 44 18 0.054 18 14 6 5 7 10.93 43141 chr6 159178345 159178345 C T rs901363 SYTL3 Nonsynonymous SNV P208S 0.417 0.341 0.408 176 489 131 0.451 120 89 31 26 34 24.7 43142 chr2 233498669 233498669 G T rs2276557 EFHD1 Synonymous SNV P85P 0.089 0.115 0.095 36 104 44 0.092 28 3 2 0 2 15.22 43143 chr2 25141409 25141409 G C ADCY3 Nonsynonymous SNV Q150E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.54 43144 chr6 159590734 159590734 T C rs295332 FNDC1 Nonsynonymous SNV S36P 0.17 0.193 0.187 91 200 74 0.233 55 85 32 19 38 13.52 43145 chr2 36737222 36737222 G A rs147714435 CRIM1 Nonsynonymous SNV R533H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 29.5 43146 chr2 7164578 7164578 A G rs376219 RNF144A Synonymous SNV E113E 0.375 0.326 0.289 143 440 125 0.367 85 84 17 11 20 0.873 43147 chr2 3673609 3673609 A G rs76490827 COLEC11 Synonymous SNV S40S 0.02 0.018 0.048 6 24 7 0.015 14 0 0 0 0 3.116 43148 chr2 71747923 71747923 C T rs36122356 DYSF Synonymous SNV H315H 0.074 0.076 0.082 30 87 29 0.077 24 5 2 0 3 Benign/Likely benign 11.74 43149 chr14 77843363 77843363 A G rs10141114 TMED8 Nonsynonymous SNV S12P 0.064 0.07 0.088 29 75 27 0.074 26 18 10 4 7 18.89 43150 chr13 111156250 111156250 G A rs45520539 COL4A2 Nonsynonymous SNV V1399I 0.032 0.026 0.024 21 38 10 0.054 7 5 0 0 1 Benign/Likely benign 1.514 43151 chr2 71801334 71801334 - AGGCGG rs1064794176 DYSF E1051_G1052insAE 0.099 0.094 0.088 36 116 36 0.092 26 6 1 0 1 43152 chr2 233759565 233759565 G A rs780444133 NGEF Nonsynonymous SNV S205F 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 26.6 43153 chr2 51254901 51254901 G A rs1045874 NRXN1 Synonymous SNV L171L 0.129 0.115 0.119 52 152 44 0.133 35 10 2 2 5 Benign 6.669 43154 chr2 71909666 71909666 C T rs147263499 DYSF Synonymous SNV P2007P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.46 43155 chr2 72359518 72359518 A G rs12478279 CYP26B1 Synonymous SNV A384A 0.039 0.023 0.024 12 46 9 0.031 7 1 0 0 0 4.097 43156 chr2 26407763 26407763 G A GAREM2 Nonsynonymous SNV R272H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 43157 chr2 72361960 72361960 A G rs2241057 CYP26B1 Nonsynonymous SNV L189S 0.132 0.117 0.126 60 155 45 0.154 37 10 4 2 4 9.898 43158 chr2 26455127 26455127 G A rs11552518 HADHA Synonymous SNV Y158Y 0.234 0.206 0.221 104 275 79 0.267 65 37 7 12 14 Benign 8.996 43159 chr2 26502875 26502875 T C rs1056389 HADHB Synonymous SNV V260V 0.233 0.208 0.085 102 273 80 0.262 25 37 7 9 14 Benign 11.23 43160 chr2 26534250 26534250 T C rs114354727 ADGRF3 Nonsynonymous SNV I583M 0.058 0.042 0.065 28 68 16 0.072 19 2 1 0 0 17.22 43161 chr2 37599963 37599963 A C rs4670696 QPCT Nonsynonymous SNV H360P 0.035 0.039 0.024 9 41 15 0.023 7 0 1 0 0 22.2 43162 chr2 37468837 37468837 G A rs17409514 NDUFAF7 Synonymous SNV P148P 0.026 0.031 0.027 15 31 12 0.038 8 0 0 0 1 Benign 10.63 43163 chr2 210570371 210570371 G A rs775158582 MAP2 Nonsynonymous SNV R195Q 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 35 43164 chr2 210690693 210690693 G A rs61730238 UNC80 Synonymous SNV K798K 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 Benign 11.69 43165 chr6 159667961 159667961 T G rs294911 FNDC1 Synonymous SNV T1550T 0.275 0.292 0.299 109 323 112 0.279 88 45 19 14 15 0.144 43166 chr2 73519762 73519762 G A rs35980039 EGR4 Nonsynonymous SNV P95L 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 43167 chr2 54587659 54587659 G C rs13184 C2orf73 Nonsynonymous SNV R154T 0.129 0.133 0.167 67 152 51 0.172 49 17 8 6 10 1.257 43168 chr13 113485850 113485850 C T rs61741250 ATP11A Synonymous SNV S461S 0.049 0.049 0.051 27 57 19 0.069 15 0 1 2 0 19.02 43169 chr2 54858214 54858214 A G rs61730127 SPTBN1 Synonymous SNV A997A 0.123 0.109 0.071 42 144 42 0.108 21 9 0 3 4 4.401 43170 chr6 160183325 160183325 G C rs2273819 SOD2-OT1 0.33 0.266 0.663 155 388 102 0.397 195 187 47 84 73 5.99 43171 chr13 113514616 113514616 G A rs61746637 ATP11A Nonsynonymous SNV A915T 0.045 0.049 0.044 29 53 19 0.074 13 0 1 2 0 23.7 43172 chr2 234591339 234591339 G A rs17864686 UGT1A7 Synonymous SNV L252L 0.19 0.174 0.18 65 223 67 0.167 53 24 11 4 4 Benign 6.825 43173 chr2 54858727 54858727 C G rs61732871 SPTBN1 Synonymous SNV A1168A 0.017 0.013 0.017 4 20 5 0.01 5 0 0 0 1 11.76 43174 chr6 160201295 160201295 C A rs2295901 SNORA20 0 0 0.796 0 0 0 0 234 0 0 94 0 3.532 43175 chr2 73679866 73679866 T C rs10496192 ALMS1 Nonsynonymous SNV I2070T 0.187 0.219 0.133 59 220 84 0.151 39 17 10 1 4 Benign 0.002 43176 chr2 234713681 234713681 G T rs79208193 MROH2A Nonsynonymous SNV G659V 0.035 0.026 0.031 14 41 10 0.036 9 0 1 0 0 23.3 43177 chr2 39095447 39095447 T C rs754186230 DHX57 Nonsynonymous SNV H34R 0.003 0 0 0 3 0 0 0 0 0 0 0 9.555 43178 chr6 160514246 160514246 A G rs3777398 LOC729603 0 0 0.466 0 0 0 0 137 0 0 35 0 3.482 43179 chr6 160514541 160514541 T C rs1888727 LOC729603 0 0 0.449 0 0 0 0 132 0 0 35 0 1.869 43180 chr2 55883487 55883487 T C rs1041018213 PNPT1 Nonsynonymous SNV N435S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.3 43181 chr2 73777400 73777400 A G rs142022233 ALMS1 Nonsynonymous SNV N3304S 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 Benign 24.9 43182 chr2 74432958 74432958 C A rs200039800 MTHFD2 Synonymous SNV G76G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.74 43183 chr2 74756548 74756548 G C rs1183739 AUP1 Synonymous SNV L43L 0.124 0.148 0.116 47 146 57 0.121 34 10 7 3 1 Benign 3.451 43184 chr2 215851303 215851303 A G rs34351934 ABCA12 Synonymous SNV L1058L 0.158 0.141 0.146 30 185 54 0.077 43 14 3 3 2 Benign 8.964 43185 chr2 234854540 234854540 G C rs13004520 TRPM8 Nonsynonymous SNV R247T 0.046 0.036 0.02 8 54 14 0.021 6 2 1 0 0 23.5 43186 chr6 16286061 16286061 C A rs146771786 GMPR Nonsynonymous SNV A231D 0.003 0 0.014 2 3 0 0.005 4 0 0 1 0 35 43187 chr2 215854156 215854156 C T rs71428357 ABCA12 Synonymous SNV P924P 0.087 0.076 0.092 18 102 29 0.046 27 3 1 1 1 Benign/Likely benign 17.8 43188 chr2 234854552 234854552 A G rs17868387 TRPM8 Nonsynonymous SNV Y251C 0.046 0.036 0.024 9 54 14 0.023 7 2 1 0 0 23.9 43189 chr2 235949877 235949877 T C rs3731644 SH3BP4 Nonsynonymous SNV M155T 0.129 0.122 0.129 49 151 47 0.126 38 13 6 4 5 0.009 43190 chr2 75109363 75109363 C T rs200225889 HK2 Synonymous SNV D612D 0.003 0 0 0 3 0 0 0 0 0 0 0 16.71 43191 chr2 234863788 234863788 G A rs7593557 TRPM8 Nonsynonymous SNV S419N 0.049 0.044 0.031 11 57 17 0.028 9 2 0 0 0 12.59 43192 chr2 215876371 215876371 T C rs10198064 ABCA12 Synonymous SNV A390A 0.079 0.068 0.143 24 93 26 0.062 42 11 3 3 1 Benign 3.202 43193 chr2 235949920 235949920 A G rs3731645 SH3BP4 Synonymous SNV P169P 0.128 0.12 0.122 49 150 46 0.126 36 12 6 4 5 0.014 43194 chr2 43968167 43968167 G A rs2278358 PLEKHH2 Nonsynonymous SNV R1069K 0.103 0.115 0.116 31 121 44 0.079 34 5 1 2 1 19.4 43195 chr2 235950002 235950002 G A rs3731646 SH3BP4 Nonsynonymous SNV A197T 0.127 0.117 0.116 49 149 45 0.126 34 12 6 4 5 0.003 43196 chr2 27715340 27715340 C T FNDC4 Synonymous SNV K225K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.814 43197 chr6 165801790 165801790 G A rs1511746 PDE10A Synonymous SNV L603L 0.127 0.138 0.156 52 149 53 0.133 46 5 4 3 6 8.375 43198 chr2 44021826 44021826 T A rs9309107 DYNC2LI1 Nonsynonymous SNV F184Y 0.396 0.375 0.391 145 465 144 0.372 115 101 24 23 23 1.214 43199 chr2 235950284 235950284 A C rs3731648 SH3BP4 Synonymous SNV R291R 0.127 0.117 0.116 49 149 45 0.126 34 12 6 4 5 0.027 43200 chr6 165895824 165895824 T C rs9459421 PDE10A Synonymous SNV S68S 0.034 0.049 0.044 15 40 19 0.038 13 1 0 0 1 5.898 43201 chr14 90755145 90755145 G A rs151274632 NRDE2 Synonymous SNV P858P 0.019 0.016 0 3 22 6 0.008 0 0 0 0 0 0.759 43202 chr6 166401512 166401512 T A rs697475 LINC00473, LINC00602 0 0 0.949 0 0 0 0 279 0 0 137 0 9.064 43203 chr2 44028013 44028013 A T rs11556157 DYNC2LI1 Nonsynonymous SNV I231L 0.311 0.307 0.282 106 365 118 0.272 83 58 17 11 15 10.94 43204 chr2 44040401 44040401 G C rs6720173 ABCG5 Nonsynonymous SNV Q604E 0.16 0.146 0.153 62 188 56 0.159 45 22 4 7 5 Benign 6.506 43205 chr2 44053599 44053599 G A rs72796720 ABCG5 Synonymous SNV V232V 0.022 0.013 0.007 3 26 5 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.374 43206 chr2 27804021 27804021 C T rs1047490075 C2orf16 Stop gain R1528X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 43207 chr6 166756179 166756179 C G rs2294334 LOC100289495 0 0 0.207 0 0 0 0 61 0 0 14 0 0.408 43208 chr2 43989525 43989525 C G rs76859622 PLEKHH2 Nonsynonymous SNV S1385C 0.048 0.063 0.058 21 56 24 0.054 17 0 0 1 0 24.6 43209 chr14 91655273 91655273 C T DGLUCY Synonymous SNV H318H 0.009 0.003 0 0 10 1 0 0 0 0 0 0 5.807 43210 chr6 166873010 166873010 C T rs2230729 RPS6KA2 Synonymous SNV P236P 0.183 0.208 0.211 85 215 80 0.218 62 19 10 7 10 10.83 43211 chr2 238243285 238243285 G A rs2270671 COL6A3 Synonymous SNV H2464H 0.141 0.148 0.16 66 165 57 0.169 47 15 3 2 9 Benign 11.84 43212 chr2 238277573 238277573 C A rs2645774 COL6A3 Synonymous SNV G904G 0.243 0.245 0.204 101 285 94 0.259 60 33 8 10 10 Benign 9.609 43213 chr2 238277795 238277795 A G rs2646260 COL6A3 Synonymous SNV I830I 0.267 0.292 0.235 115 313 112 0.295 69 43 14 10 16 Benign 0.342 43214 chr2 238283605 238283605 G A rs12622093 COL6A3 Synonymous SNV G436G 0.268 0.279 0.238 111 315 107 0.285 70 37 11 11 12 Benign 7.884 43215 chr6 167550042 167550042 C T rs2071171 CCR6 Synonymous SNV T108T 0.646 0.659 0.636 246 758 253 0.631 187 245 82 60 71 8.671 43216 chr2 238253149 238253149 G A rs2646258 COL6A3 Synonymous SNV N1897N 0.139 0.141 0.156 65 163 54 0.167 46 14 3 1 8 Benign 1.287 43217 chr2 238257013 238257013 G A rs2646265 COL6A3 Synonymous SNV F1708F 0.136 0.146 0.153 65 160 56 0.167 45 14 3 1 8 Benign 11.88 43218 chr2 85892786 85892786 C T SFTPB Synonymous SNV K175K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.37 43219 chr2 238289980 238289980 G C rs113897824 COL6A3 Nonsynonymous SNV T85S 0.01 0.01 0.01 3 12 4 0.008 3 0 0 0 0 Benign 8.315 43220 chr2 238289984 238289984 C G rs112010940 COL6A3 Nonsynonymous SNV D84H 0.01 0.01 0.01 3 12 4 0.008 3 0 0 0 0 Benign 22.8 43221 chr2 65299928 65299928 C T rs188040350 CEP68 Synonymous SNV H566H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 10.32 43222 chr2 85923169 85923169 A C rs61731721 GNLY Nonsynonymous SNV K82T 0.001 0.005 0.007 3 1 2 0.008 2 0 0 0 0 11.61 43223 chr2 65571889 65571889 G C rs61748094 SPRED2 Synonymous SNV G53G 0.055 0.065 0.044 17 65 25 0.044 13 3 0 0 0 6.437 43224 chr2 65571997 65571997 A G rs61741513 SPRED2 Synonymous SNV V17V 0.055 0.065 0.041 16 65 25 0.041 12 3 0 0 0 4.929 43225 chr2 48027755 48027755 T C rs2020912 MSH6 Nonsynonymous SNV V748A 0.014 0 0.003 7 17 0 0.018 1 0 0 0 0 Benign 0.005 43226 chr2 238999883 238999883 T C rs1128552 SCLY Synonymous SNV A303A 0.179 0.174 0.211 80 210 67 0.205 62 20 4 6 7 9.128 43227 chr6 170052049 170052049 T C rs9478086 WDR27 Synonymous SNV S295S 0.124 0.091 0.133 33 146 35 0.085 39 12 2 4 0 0.141 43228 chr2 239010690 239010690 C A rs34878344 ESPNL Synonymous SNV R135R 0.113 0.12 0.088 51 133 46 0.131 26 10 3 2 3 14.96 43229 chr6 170058439 170058439 C T rs41265381 WDR27 Synonymous SNV P254P 0.112 0.089 0.126 29 132 34 0.074 37 12 2 3 0 11.71 43230 chr2 238461032 238461032 A T rs752335189 MLPH Synonymous SNV T456T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.307 43231 chr6 170070723 170070723 A G rs4236176 WDR27 Nonsynonymous SNV L133P 0.282 0.242 0.293 99 331 93 0.254 86 48 10 14 11 0.188 43232 chr2 239016488 239016488 G A rs149388984 ESPNL Synonymous SNV L243L 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 1.891 43233 chr6 170176467 170176467 A G rs4716345 ERMARD Nonsynonymous SNV K520E 0.243 0.182 0.255 92 285 70 0.236 75 31 8 11 10 2.235 43234 chr14 93176042 93176042 G A rs148659834 LGMN Nonsynonymous SNV T332M 0.017 0.016 0.017 6 20 6 0.015 5 0 0 0 0 6.024 43235 chr6 170176647 170176647 C T rs4716399 ERMARD Synonymous SNV I413I 0.243 0.188 0.255 96 285 72 0.246 75 31 8 11 14 Benign 10.3 43236 chr6 170176648 170176648 A G rs4716346 ERMARD Nonsynonymous SNV S414G 0.243 0.188 0.255 96 285 72 0.246 75 31 8 11 14 Benign 0.044 43237 chr6 170190200 170190200 G A rs3807067 LINC00242, LINC00574 0 0 0.514 0 0 0 0 151 0 0 28 0 7.837 43238 chr6 170190418 170190418 T G rs3823467 LINC00242, LINC00574 0 0 0.245 0 0 0 0 72 0 0 10 0 6.414 43239 chr2 50723068 50723068 G A rs56402642 NRXN1 Synonymous SNV A978A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.53 43240 chr6 170190659 170190659 G T rs3800550 LINC00242 0 0 0.18 0 0 0 0 53 0 0 7 0 3.437 43241 chr6 170563478 170563478 T C rs7760268 LOC154449 0 0 0.238 0 0 0 0 70 0 0 9 0 0.604 43242 chr6 170563646 170563646 T C rs3012423 LOC154449 0 0 0.252 0 0 0 0 74 0 0 4 0 8.437 43243 chr6 170563668 170563668 T A rs3012422 LOC154449 0 0 0.769 0 0 0 0 226 0 0 86 0 0.985 43244 chr6 170564080 170564080 G A rs3012421 LOC154449 0 0 0.51 0 0 0 0 150 0 0 38 0 2.248 43245 chr2 54035508 54035508 G C rs2287345 ERLEC1 Nonsynonymous SNV V318L 0.089 0.078 0.105 35 104 30 0.09 31 10 2 0 0 0.557 43246 chr6 170627651 170627651 G A rs9460113 FAM120B Synonymous SNV T403T 0.663 0.711 0.636 251 778 273 0.644 187 253 94 59 78 14.92 43247 chr2 88125212 88125212 C G rs192443832 RGPD2 Nonsynonymous SNV A13P 0.071 0.042 0.054 43 83 16 0.11 16 1 1 0 2 24.7 43248 chr2 54036361 54036361 G C ERLEC1 Nonsynonymous SNV W297S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 34 43249 chr2 239007997 239007997 A G rs3816347 UBE2F-SCLY 0.063 0.049 0.088 31 74 19 0.079 26 1 1 2 2 2.268 43250 chr2 54150237 54150237 A G rs3213775 PSME4 Synonymous SNV L643L 0.086 0.073 0.116 34 101 28 0.087 34 10 2 1 1 7.08 43251 chr6 17799575 17799575 A G rs3734235 KIF13A Synonymous SNV A904A 0.246 0.229 0.286 91 289 88 0.233 84 32 9 11 9 8.905 43252 chr2 53927569 53927569 C T rs775757363 ASB3, GPR75-ASB3 Synonymous SNV S286S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.74 43253 chr6 17831419 17831419 G A rs2277080 KIF13A Synonymous SNV S438S 0.269 0.229 0.299 115 316 88 0.295 88 44 8 11 17 13.71 43254 chr2 88474166 88474166 G A rs34841493 THNSL2 Nonsynonymous SNV D78N 0.005 0.013 0.014 6 6 5 0.015 4 0 0 0 0 22.1 43255 chr14 20898823 20898823 G A rs45573141 KLHL33 Synonymous SNV S4S 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 1.309 43256 chr6 18143854 18143854 G A rs17839843 TPMT Synonymous SNV T113T 0.018 0.016 0.02 9 21 6 0.023 6 0 0 0 0 Uncertain significance 11.56 43257 chr2 88482258 88482258 G A rs35051888 THNSL2 Synonymous SNV L123L 0.058 0.076 0.065 39 68 29 0.1 19 0 0 0 2 9.932 43258 chr2 55189685 55189685 C T rs75479836 EML6 Synonymous SNV D1665D 0.123 0.104 0.078 42 144 40 0.108 23 9 2 1 6 14.77 43259 chr6 24418348 24418348 G A rs2793422 MRS2 Synonymous SNV E241E 0.451 0.482 0.401 182 530 185 0.467 118 124 41 27 42 13.43 43260 chr2 71058184 71058184 C T rs13421115 CD207 Synonymous SNV P328P 0.248 0.227 0.293 102 291 87 0.262 86 35 14 8 14 11.31 43261 chr6 24437458 24437458 T C rs1042303 GPLD1 Nonsynonymous SNV M694V 0.494 0.49 0.483 193 580 188 0.495 142 136 43 32 48 0.018 43262 chr6 24588884 24588884 C T rs4504469 KIAA0319 Nonsynonymous SNV A266T 0.333 0.305 0.255 116 391 117 0.297 75 60 22 12 23 0.233 43263 chr14 21109745 21109745 C G rs45443395 OR6S1 Nonsynonymous SNV V36L 0.06 0.063 0.034 23 71 24 0.059 10 1 0 1 0 0.443 43264 chr2 54558114 54558114 T C rs199981604 C2orf73 Star tloss M1? 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.8 43265 chr2 219878756 219878756 G A rs9967806 CFAP65 Nonsynonymous SNV L1205F 0.059 0.086 0.071 31 69 33 0.079 21 1 0 0 0 15.17 43266 chr2 71211815 71211815 G A rs3796098 ANKRD53 Synonymous SNV L326L 0.237 0.266 0.201 86 278 102 0.221 59 25 14 9 9 4.672 43267 chr2 240036959 240036959 C T rs79199572 HDAC4 Synonymous SNV P522P 0.044 0.042 0.044 16 52 16 0.041 13 0 0 2 0 10.3 43268 chr2 219892426 219892426 C T rs140322077 CFAP65 Synonymous SNV P654P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.53 43269 chr2 71212129 71212129 A T rs3796100 ANKRD53 Nonsynonymous SNV H431L 0.237 0.266 0.201 86 278 102 0.221 59 25 14 9 9 0.294 43270 chr2 54849508 54849508 A G rs2228365 SPTBN1 Synonymous SNV E303E 0.015 0.018 0.01 12 18 7 0.031 3 0 0 0 0 9.599 43271 chr2 219894885 219894885 C T rs773282060 CFAP65 Nonsynonymous SNV E338K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.031 43272 chr2 71212405 71212405 T C rs61732279 ANKRD53 Nonsynonymous SNV L523P 0.239 0.266 0.18 86 281 102 0.221 53 25 14 10 9 18.3 43273 chr2 55404883 55404883 T C rs13032294 CLHC1 Synonymous SNV Q267Q 0.042 0.039 0.031 20 49 15 0.051 9 0 0 0 1 0.004 43274 chr6 25082105 25082105 T C rs303010 CMAHP 0 0 0.071 0 0 0 0 21 0 0 2 0 8.906 43275 chr6 25084718 25084718 A G rs303006 CMAHP 0 0 0.782 0 0 0 0 230 0 0 90 0 1.847 43276 chr2 71221822 71221822 A G rs2302561 TEX261 Synonymous SNV A22A 0.324 0.37 0.33 116 380 142 0.297 97 56 26 18 15 16.2 43277 chr2 3261173 3261173 A G rs10188932 EIPR1 Synonymous SNV L105L 0.05 0.034 0.031 19 59 13 0.049 9 0 0 0 1 9.496 43278 chr6 25137985 25137985 T C rs59778363 CMAHP 0 0 0.122 0 0 0 0 36 0 0 2 0 11.51 43279 chr2 239079276 239079276 G A rs34150107 ILKAP Synonymous SNV D360D 0.015 0.016 0.01 8 18 6 0.021 3 0 0 0 2 Benign 6.945 43280 chr2 61361326 61361326 G - rs142269591 KIAA1841 G695Vfs*2 0.081 0.109 0.102 28 95 42 0.072 30 2 1 1 1 43281 chr2 55490788 55490788 T C rs1134722 MTIF2 Synonymous SNV L69L 0.039 0.034 0.031 19 46 13 0.049 9 0 0 0 1 1.946 43282 chr2 55566749 55566749 A G rs144393509 CCDC88A Synonymous SNV L457L 0.01 0.013 0.003 8 12 5 0.021 1 0 0 0 0 Likely benign 15.48 43283 chr2 239237751 239237751 A G rs3769110 TRAF3IP1 Nonsynonymous SNV N228S 0.044 0.031 0.037 16 52 12 0.041 11 0 0 0 0 0.002 43284 chr2 241451351 241451351 G A rs35044862 ANKMY1 Nonsynonymous SNV T508M 0.157 0.146 0.112 64 184 56 0.164 33 17 3 2 6 0.281 43285 chr2 239237974 239237974 T C rs17854985 TRAF3IP1 Synonymous SNV P302P 0.048 0.034 0.044 16 56 13 0.041 13 0 0 0 0 0.005 43286 chr2 239253224 239253224 A T rs58277463 TRAF3IP1 Nonsynonymous SNV T416S 0.042 0.031 0.044 15 49 12 0.038 13 0 0 0 0 0.426 43287 chr2 220079143 220079143 G A rs759414018 ABCB6 Stop gain R406X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 43288 chr2 71631109 71631109 A G rs3732235 ZNF638 Nonsynonymous SNV N980S 0.092 0.086 0.065 30 108 33 0.077 19 9 0 0 1 10.12 43289 chr2 239353001 239353001 C T rs2290075 ASB1 Synonymous SNV D70D 0.031 0.029 0.044 5 36 11 0.013 13 1 0 0 0 10.56 43290 chr2 240056259 240056259 G A rs747485425 HDAC4 Synonymous SNV N353N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.983 43291 chr2 61147212 61147212 C A REL Nonsynonymous SNV T297N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.51 43292 chr2 3469412 3469412 T C rs35407737 TRAPPC12 Synonymous SNV Y574Y 0.032 0.034 0.044 13 37 13 0.033 13 0 1 0 0 0.003 43293 chr2 241569447 241569447 C G rs141249079 GPR35 Stop gain Y26X 0.001 0 0 7 1 0 0.018 0 0 0 0 0 35 43294 chr2 64335394 64335394 A G rs17753351 PELI1 Synonymous SNV Y17Y 0.055 0.057 0.075 25 65 22 0.064 22 1 2 1 0 4.525 43295 chr2 71654175 71654175 G A rs1804020 ZNF638 Nonsynonymous SNV V1726M 0.229 0.229 0.218 87 269 88 0.223 64 32 9 7 5 7.18 43296 chr2 64780144 64780144 A G rs7576956 AFTPH Synonymous SNV Q512Q 0.05 0.034 0.031 16 59 13 0.041 9 2 1 0 1 0.029 43297 chr6 27799267 27799267 T - rs760219951 HIST1H4K G14Afs*31 0 0 0.003 0 0 0 0 1 0 0 0 0 43298 chr2 65217089 65217089 G C rs7559202 SLC1A4 Synonymous SNV S104S 0.14 0.141 0.116 50 164 54 0.128 34 12 5 1 0 13.02 43299 chr6 27879551 27879551 C G rs9368537 OR2B2 Nonsynonymous SNV A183P 0.024 0.031 0.02 12 28 12 0.031 6 1 0 0 1 23.3 43300 chr2 220162054 220162054 G A rs17847405 PTPRN Synonymous SNV D634D 0.012 0.018 0.007 1 14 7 0.003 2 0 0 0 0 5.557 43301 chr2 71654450 71654450 A G rs60163900 ZNF638 Synonymous SNV K1817K 0.093 0.086 0.065 31 109 33 0.079 19 9 0 0 1 0.004 43302 chr2 220164880 220164880 G T PTPRN Synonymous SNV V421V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.078 43303 chr6 27925456 27925456 T C rs904142 OR2B6 Synonymous SNV A146A 0.025 0.031 0.02 11 29 12 0.028 6 1 0 0 1 1.763 43304 chr2 220193917 220193917 C T rs3731895 RESP18 Nonsynonymous SNV A175T 0.009 0.016 0 1 11 6 0.003 0 0 0 0 0 5.566 43305 chr2 71658541 71658541 C T rs11542286 ZNF638 Nonsynonymous SNV A1912V 0.083 0.086 0.061 29 98 33 0.074 18 9 0 0 1 22.4 43306 chr6 27925827 27925827 A G rs9380030 OR2B6 Nonsynonymous SNV Q270R 0.025 0.031 0.02 11 29 12 0.028 6 1 0 0 1 0.027 43307 chr6 28059020 28059020 G A rs9393887 ZSCAN12P1 0 0 0.129 0 0 0 0 38 0 0 3 0 5.315 43308 chr6 28059217 28059217 G C rs9393888 ZSCAN12P1 0 0 0.129 0 0 0 0 38 0 0 3 0 4.352 43309 chr6 28097193 28097193 G A rs4713140 ZSCAN16 Synonymous SNV L190L 0.05 0.047 0.068 21 59 18 0.054 20 4 0 1 1 6.794 43310 chr6 28104634 28104634 G T rs9380057 ZSCAN16-AS1 0 0 0.129 0 0 0 0 38 0 0 3 0 5.875 43311 chr2 71795460 71795460 G A rs34836829 DYSF Synonymous SNV P920P 0.02 0.016 0.01 9 24 6 0.023 3 0 0 0 0 Benign/Likely benign 12.27 43312 chr6 28134582 28134582 C T rs16893735 ZNF192P1 0 0 0.041 0 0 0 0 12 0 0 0 0 11.84 43313 chr6 28219661 28219661 G A rs9986596 ZKSCAN4 Nonsynonymous SNV S33F 0.075 0.065 0.092 29 88 25 0.074 27 3 1 2 2 7.477 43314 chr2 62362995 62362995 T C rs9096 COMMD1 Synonymous SNV D98D 0.09 0.096 0.109 41 106 37 0.105 32 3 5 2 1 7.495 43315 chr2 71838657 71838657 C T rs2303607 DYSF Synonymous SNV S1342S 0.019 0.016 0.017 9 22 6 0.023 5 0 0 0 0 Benign/Likely benign 9.723 43316 chr6 28227633 28227633 C T rs9461446 NKAPL Nonsynonymous SNV H162Y 0.038 0.036 0.044 16 45 14 0.041 13 1 0 0 2 5.551 43317 chr2 71871188 71871188 C T rs7573406 DYSF Synonymous SNV L1488L 0.018 0.018 0.007 6 21 7 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.16 43318 chr14 96953364 96953364 G A rs368361362 AK7 Nonsynonymous SNV V636I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.442 43319 chr14 21831419 21831419 C T rs61746713 SUPT16H Synonymous SNV R456R 0.078 0.073 0.051 25 91 28 0.064 15 2 0 1 1 15.93 43320 chr2 99938565 99938565 T C rs11542367 TXNDC9 Nonsynonymous SNV H139R 0.009 0.018 0.01 7 11 7 0.018 3 0 0 0 0 0.225 43321 chr2 99992822 99992822 A C rs7558074 EIF5B Nonsynonymous SNV K522T 0.337 0.318 0.058 164 396 122 0.421 17 150 47 7 59 9.87 43322 chr6 28297313 28297313 T A rs853678 ZSCAN31 Nonsynonymous SNV T50S 0.107 0.107 0.146 40 126 41 0.103 43 5 2 4 3 12.47 43323 chr2 73518867 73518867 G A rs7558708 EGR4 Synonymous SNV R393R 0.082 0.078 0.068 27 96 30 0.069 20 4 1 0 0 8.373 43324 chr2 220342728 220342728 G T rs79987208 SPEG Nonsynonymous SNV R1643L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 12.77 43325 chr6 28331127 28331127 A G rs13201752 ZKSCAN3 Nonsynonymous SNV K52E 0.235 0.242 0.259 95 276 93 0.244 76 39 8 9 8 0.001 43326 chr2 73613031 73613031 - GGA rs193922695 ALMS1 E28_A29insE 0.292 0.281 0.058 129 343 108 0.331 17 110 36 5 40 43327 chr2 220348967 220348967 C T rs79250336 SPEG Nonsynonymous SNV P2261L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 1.052 43328 chr6 28331128 28331128 A C rs13201753 ZKSCAN3 Nonsynonymous SNV K52T 0.235 0.242 0.259 95 276 93 0.244 76 39 8 9 8 0.003 43329 chr6 28333396 28333396 T C rs17313059 ZKSCAN3 Synonymous SNV H169H 0.037 0.039 0.034 15 44 15 0.038 10 1 0 0 1 4.141 43330 chr6 28358320 28358320 A G rs1361385 ZSCAN12 Nonsynonymous SNV C583R 0.244 0.255 0.262 99 287 98 0.254 77 42 10 9 9 10.71 43331 chr14 22038125 22038125 C T rs34162196 OR10G3 Nonsynonymous SNV V251M 0.049 0.078 0.071 18 57 30 0.046 21 1 1 0 0 23.4 43332 chr6 28358335 28358335 G C rs1416918 ZSCAN12 Nonsynonymous SNV R578G 0.244 0.255 0.262 99 287 98 0.254 77 42 10 9 9 1.054 43333 chr2 73799632 73799632 C G rs45501594 ALMS1 Nonsynonymous SNV T3542S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign/Likely benign 24.2 43334 chr2 220354295 220354295 T C SPEG Nonsynonymous SNV L2852P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 43335 chr6 28358893 28358893 T C rs2232434 ZSCAN12 Nonsynonymous SNV N392D 0.037 0.039 0.034 15 44 15 0.038 10 1 0 0 1 24.7 43336 chr3 100617668 100617668 G T rs34999788 ABI3BP Synonymous SNV S140S 0.079 0.078 0.085 27 93 30 0.069 25 2 0 1 2 8.999 43337 chr2 220354435 220354435 C T rs79502506 SPEG Nonsynonymous SNV P2899S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 16.25 43338 chr6 28402260 28402260 T C rs17315648 ZSCAN23 Synonymous SNV P384P 0.037 0.039 0.034 15 44 15 0.038 10 1 0 0 1 4.497 43339 chr2 241872327 241872327 T C rs34108597 CROCC2 0.038 0.031 0.031 13 45 12 0.033 9 2 0 0 0 22.9 43340 chr2 220370746 220370746 G A rs13428617 GMPPA Synonymous SNV E315E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 11.1 43341 chr6 2990117 2990117 - CCGT rs778456436 LINC01011 0 0 0.466 0 0 0 0 137 0 0 37 0 43342 chr2 220371035 220371035 C G rs1046474 GMPPA Synonymous SNV A351A 0.164 0.151 0.143 53 193 58 0.136 42 11 3 3 3 Benign 15.26 43343 chr6 2990119 2990119 - GTTGTCACGGCGCTGGTGGGAG rs372469036 LINC01011 0 0 0.466 0 0 0 0 137 0 0 37 0 43344 chr2 74598723 74598723 T C rs55862001 DCTN1 Nonsynonymous SNV I62V 0.015 0.013 0.007 3 18 5 0.008 2 0 1 0 0 Conflicting interpretations of pathogenicity 5.557 43345 chr2 74641624 74641624 G C rs2240444 C2orf81 Synonymous SNV P465P 0.145 0.164 0.16 56 170 63 0.144 47 13 4 8 3 4.981 43346 chr2 74687416 74687416 C G rs146501258 WBP1 Nonsynonymous SNV P140A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.08 43347 chr2 74687550 74687550 T C rs8469 WBP1 Synonymous SNV P184P 0.138 0.164 0.163 57 162 63 0.146 48 10 2 8 3 0.01 43348 chr2 74690039 74690039 G A rs2268416 MOGS Nonsynonymous SNV P293S 0.152 0.174 0.167 61 178 67 0.156 49 13 3 8 4 Benign 0.001 43349 chr2 242141701 242141701 C T rs151257402 ANO7 Synonymous SNV A235A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.54 43350 chr2 74690378 74690378 C T rs1063588 MOGS Nonsynonymous SNV D239N 0.138 0.164 0.163 57 162 63 0.146 48 10 2 7 3 Benign 16.27 43351 chr2 242149010 242149010 C T rs57677160 ANO7 Nonsynonymous SNV A440V 0.216 0.19 0.051 83 253 73 0.213 15 34 11 3 6 8.904 43352 chr2 74699778 74699778 C A rs1047911 MRPL53 Nonsynonymous SNV A4S 0.139 0.164 0.163 56 163 63 0.144 48 10 2 7 3 1.774 43353 chr6 33560896 33560896 A G rs210162 LINC00336 0 0 0.218 0 0 0 0 64 0 0 10 0 1.41 43354 chr2 74710491 74710491 C T rs6707475 TTC31 Nonsynonymous SNV A28V 0.151 0.174 0.163 61 177 67 0.156 48 13 3 7 4 12.27 43355 chr14 102323093 102323093 T C rs61735777 PPP2R5C Synonymous SNV F55F 0.05 0.039 0.037 27 59 15 0.069 11 3 0 0 3 4.008 43356 chr2 242371101 242371101 C T rs757978 FARP2 Nonsynonymous SNV T260I 0.112 0.115 0.082 39 131 44 0.1 24 8 1 1 0 25.5 43357 chr2 242695381 242695381 G A rs149504235 D2HGDH Nonsynonymous SNV A286T 0.002 0 0.003 6 2 0 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.858 43358 chr2 242407588 242407588 G A rs41342147 FARP2 Nonsynonymous SNV V643I 0.147 0.159 0.095 51 172 61 0.131 28 12 2 1 3 25.6 43359 chr2 74725178 74725178 G A rs17009998 LBX2 Nonsynonymous SNV S154F 0.13 0.164 0.133 53 153 63 0.136 39 7 2 6 3 21 43360 chr2 242757820 242757820 G A rs11545301 NEU4 Nonsynonymous SNV G314R 0.292 0.273 0.265 104 343 105 0.267 78 48 13 10 16 0.09 43361 chr2 74746322 74746322 A T rs6546909 DQX1 Synonymous SNV L614L 0.157 0.18 0.163 60 184 69 0.154 48 14 3 6 5 0.002 43362 chr2 74761539 74761539 T A rs17010021 LOXL3 Nonsynonymous SNV I254F 0.032 0.039 0.027 9 37 15 0.023 8 0 0 1 2 Benign 25.7 43363 chr3 10420087 10420087 T C rs751122 ATP2B2 Synonymous SNV Q305Q 0.325 0.357 0.378 112 382 137 0.287 111 56 23 22 15 0.394 43364 chr6 34003685 34003685 T C rs2228623 GRM4 Synonymous SNV T618T 0.165 0.151 0.15 59 194 58 0.151 44 14 3 3 2 0.011 43365 chr2 220422099 220422099 G C rs112751766 OBSL1 Synonymous SNV P1344P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 5.883 43366 chr2 69093512 69093512 C A rs781057330 BMP10 Nonsynonymous SNV D176Y 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 7.994 43367 chr6 34008006 34008006 A G rs2229900 GRM4 Synonymous SNV D369D 0.249 0.206 0.207 92 292 79 0.236 61 36 11 6 8 0.125 43368 chr2 220422181 220422181 A T rs115283876 OBSL1 Nonsynonymous SNV L1317Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 26.6 43369 chr6 34506227 34506227 T C rs559509961 SPDEF Nonsynonymous SNV I262V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.84 43370 chr2 71206267 71206267 G A rs57527165 ANKRD53 Nonsynonymous SNV A71T 0.06 0.078 0.095 22 70 30 0.056 28 2 0 2 1 9.168 43371 chr2 69177269 69177269 C A rs62133344 GKN2 Nonsynonymous SNV D65Y 0.06 0.081 0.041 28 70 31 0.072 12 0 0 0 1 32 43372 chr6 348195 348195 G A rs7768224 DUSP22 Nonsynonymous SNV R119H 0.007 0.003 0.017 4 8 1 0.01 5 0 0 0 0 34 43373 chr3 108081277 108081277 C A rs6779094 HHLA2 Nonsynonymous SNV S364R 0.15 0.182 0.173 58 176 70 0.149 51 13 4 7 3 0.279 43374 chr14 23392435 23392435 G T rs936443286 PRMT5-AS1 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 2.406 43375 chr2 71212130 71212130 C T rs61732224 ANKRD53 Synonymous SNV H431H 0.067 0.086 0.116 24 79 33 0.062 34 3 0 1 1 8.56 43376 chr14 23444247 23444247 G A rs10130692 AJUBA Synonymous SNV L19L 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 11.32 43377 chr6 34839463 34839463 A G rs147415559 UHRF1BP1 Nonsynonymous SNV I1362V 0.016 0.013 0.027 8 19 5 0.021 8 0 0 0 0 10.59 43378 chr3 108095365 108095365 G A rs2124736 HHLA2 Synonymous SNV E395E 0.153 0.19 0.17 57 180 73 0.146 50 13 5 7 3 0.636 43379 chr2 242707359 242707359 A G D2HGDH Nonsynonymous SNV Y380C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 27.4 43380 chr2 220431630 220431630 C T rs202040862 OBSL1 Nonsynonymous SNV V686I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 23.2 43381 chr2 44040347 44040347 T C rs140374206 ABCG5 Nonsynonymous SNV M622V 0.022 0.026 0.024 1 26 10 0.003 7 0 0 0 0 Benign/Likely benign 0.001 43382 chr2 70441509 70441509 C T rs200963371 TIA1 Nonsynonymous SNV G260S 0.003 0.013 0 2 4 5 0.005 0 0 0 0 0 24.1 43383 chr2 79313990 79313990 C T rs62640882 REG1B Nonsynonymous SNV R44H 0.028 0.016 0.027 9 33 6 0.023 8 1 0 0 0 22.8 43384 chr6 35103911 35103911 A G rs776111702 TCP11 Nonsynonymous SNV M37T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.242 43385 chr3 108303989 108303989 C A rs34788499 CIP2A Nonsynonymous SNV C58F 0.035 0.034 0.017 11 41 13 0.028 5 1 0 0 0 23.7 43386 chr2 220477946 220477946 C T rs116409665 STK11IP Nonsynonymous SNV R846C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.39 43387 chr2 24920663 24920663 A G rs41281513 NCOA1 Synonymous SNV Q315Q 0.016 0.005 0.037 12 19 2 0.031 11 0 0 0 1 1.73 43388 chr2 25038564 25038564 T G rs147672058 CENPO Nonsynonymous SNV F172C 0.005 0 0.003 6 6 0 0.015 1 0 0 0 0 24.2 43389 chr2 80101321 80101321 T G rs61291641 CTNNA2 Synonymous SNV A235A 0.123 0.083 0.116 43 144 32 0.11 34 7 0 2 1 7.381 43390 chr2 24432837 24432837 T C ITSN2 Synonymous SNV L1401L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.047 43391 chr14 23815890 23815890 G A rs17794321 SLC22A17 Synonymous SNV V292V 0.005 0.01 0 8 6 4 0.021 0 0 0 0 0 7.747 43392 chr2 220503516 220503516 C T rs41272709 SLC4A3 Nonsynonymous SNV P1010L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 43393 chr2 25965982 25965982 C T rs62130126 ASXL2 Nonsynonymous SNV R815Q 0.021 0.018 0.037 3 25 7 0.008 11 0 0 0 0 Benign 8.136 43394 chr2 71304738 71304738 G A rs1043701 NAGK Synonymous SNV V221V 0.123 0.138 0.095 54 144 53 0.138 28 3 5 2 5 13.02 43395 chr2 223783841 223783841 G A rs13000358 ACSL3 Synonymous SNV P242P 0.054 0.078 0.092 29 63 30 0.074 27 3 3 1 1 9.36 43396 chr2 48602186 48602186 A G rs34136171 FOXN2 Synonymous SNV E300E 0.06 0.057 0.078 40 70 22 0.103 23 2 0 2 1 4.158 43397 chr6 36298322 36298322 T G rs150068380 BNIP5 Nonsynonymous SNV H49P 0.013 0.013 0.003 8 15 5 0.021 1 0 0 0 0 0.016 43398 chr2 73675525 73675525 A G rs41291187 ALMS1 Nonsynonymous SNV H623R 0.023 0.01 0.01 18 27 4 0.046 3 2 0 0 0 Benign/Likely benign 0.002 43399 chr6 36341243 36341243 T A rs60760162 ETV7 Synonymous SNV P85P 0.007 0.008 0.017 5 8 3 0.013 5 0 0 0 0 2.131 43400 chr3 111325625 111325625 G A rs138396447 CD96 Nonsynonymous SNV S389N 0.011 0.01 0 5 13 4 0.013 0 0 0 0 0 6.817 43401 chr6 36641754 36641754 A C rs1977172 PANDAR 0 0 0.837 0 0 0 0 246 0 0 106 0 2.114 43402 chr6 36645466 36645466 G A rs762623 DINOL 0 0 0.143 0 0 0 0 42 0 0 3 0 5.475 43403 chr2 26696374 26696374 C T rs56054534 OTOF Nonsynonymous SNV R467Q 0.017 0.005 0.01 6 20 2 0.015 3 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 43404 chr2 86267535 86267535 G A rs373364341 POLR1A Synonymous SNV N1240N 0.014 0.003 0 1 17 1 0.003 0 0 0 0 0 13.71 43405 chr2 226516188 226516188 G C rs61753536 NYAP2 Synonymous SNV T623T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 2.173 43406 chr6 36882353 36882353 A G rs2272275 C6orf89 Synonymous SNV E200E 0.25 0.237 0.241 87 293 91 0.223 71 36 10 10 11 7.897 43407 chr6 36887476 36887476 C T rs11542163 C6orf89 Synonymous SNV I323I 0.123 0.12 0.112 41 144 46 0.105 33 11 0 2 1 6.665 43408 chr14 104563932 104563932 G T rs1465163 ASPG Synonymous SNV L157L 0.083 0.052 0.095 19 98 20 0.049 28 2 0 0 0 7.823 43409 chr2 73679956 73679956 C T rs28730854 ALMS1 Nonsynonymous SNV S2100L 0.06 0.049 0.058 13 70 19 0.033 17 3 1 1 0 Benign 22.8 43410 chr2 71894521 71894521 C A rs145272777 DYSF Nonsynonymous SNV P1725Q 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.69 43411 chr14 104640098 104640098 G A rs61745565 KIF26A Synonymous SNV A641A 0.032 0.026 0.024 11 37 10 0.028 7 0 0 0 0 2.39 43412 chr2 26539862 26539862 T G rs137993374 ADGRF3 Nonsynonymous SNV E71D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 43413 chr3 112059768 112059768 C G rs1131199 CD200 Nonsynonymous SNV S11C 0.565 0.542 0.514 202 663 208 0.518 151 188 54 42 58 6.856 43414 chr6 37502110 37502110 C G rs62406767 LINC02520 0 0 0.299 0 0 0 0 88 0 0 12 0 9.891 43415 chr2 86693826 86693826 T C rs34605051 KDM3A Nonsynonymous SNV S447P 0.177 0.141 0.146 59 208 54 0.151 43 19 4 7 5 13.85 43416 chr2 54093956 54093956 G A rs1049894 PSME4 Synonymous SNV Y1775Y 0.049 0.042 0.027 15 58 16 0.038 8 2 1 0 0 6.907 43417 chr2 86756381 86756381 T G rs11548929 CHMP3, RNF103-CHMP3 Synonymous SNV A16A 0.181 0.143 0.146 60 212 55 0.154 43 19 4 7 5 0.238 43418 chr2 54482553 54482553 G A rs17189743 TSPYL6 Nonsynonymous SNV R246C 0.028 0.018 0.017 8 33 7 0.021 5 0 1 0 0 23.8 43419 chr2 27292989 27292989 G A rs140335340 AGBL5 Nonsynonymous SNV R840H 0.026 0.026 0.014 2 30 10 0.005 4 0 0 0 0 14.63 43420 chr3 113005617 113005617 G C rs775507105 BOC Nonsynonymous SNV V1086L 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 4.227 43421 chr2 73676667 73676667 C T rs1039388814 ALMS1 Nonsynonymous SNV H1004Y 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Uncertain significance 7.297 43422 chr6 38980081 38980081 A G rs10484847 DNAH8 Nonsynonymous SNV I4271V 0.193 0.185 0.214 69 226 71 0.177 63 28 6 7 5 Benign 4.757 43423 chr2 54858154 54858154 C T rs61732872 SPTBN1 Synonymous SNV G977G 0.034 0.021 0.031 10 40 8 0.026 9 0 0 0 0 13.05 43424 chr2 55096488 55096488 A G rs201615199 EML6 Nonsynonymous SNV Y741C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.8 43425 chr2 228560728 228560728 A G rs34507036 SLC19A3 Nonsynonymous SNV V350A 0.01 0.026 0.027 4 12 10 0.01 8 0 0 0 0 Benign 0.022 43426 chr14 105190700 105190700 C T ADSS1 Synonymous SNV S31S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.2 43427 chr2 74709217 74709217 G A rs755565872 CCDC142 Nonsynonymous SNV R250W 0.011 0.01 0 5 13 4 0.013 0 0 0 0 0 17.06 43428 chr2 55155551 55155551 C T rs733916 EML6 Synonymous SNV A1259A 0.079 0.102 0.088 31 93 39 0.079 26 3 4 1 2 10.76 43429 chr2 75907351 75907351 T C rs6722682 GCFC2 Nonsynonymous SNV T425A 0.129 0.122 0.088 50 151 47 0.128 26 10 2 2 4 0.071 43430 chr6 39824130 39824130 G A rs199767843 DAAM2 Nonsynonymous SNV G18R 0.007 0.003 0.02 1 8 1 0.003 6 0 0 0 0 Benign 23.8 43431 chr2 55481322 55481322 T A rs2230370 MTIF2 Synonymous SNV P173P 0.097 0.107 0.088 38 114 41 0.097 26 6 4 1 1 11.69 43432 chr2 27455418 27455418 C T rs140011289 CAD Synonymous SNV Y853Y 0.016 0.023 0.02 5 19 9 0.013 6 0 0 0 0 Benign 9.696 43433 chr3 113720517 113720517 T A rs6784095 CCDC191 Nonsynonymous SNV E674D 0.142 0.172 0.133 54 167 66 0.138 39 10 5 2 5 14.12 43434 chr2 75937801 75937801 C T rs10177030 GCFC2 Nonsynonymous SNV V61I 0.103 0.104 0.075 48 121 40 0.123 22 8 2 1 4 7.892 43435 chr2 97164943 97164943 C T rs3731939 NEURL3 Nonsynonymous SNV E61K 0.055 0.049 0.051 18 65 19 0.046 15 1 0 0 0 6.657 43436 chr2 75917161 75917161 G C rs41286005 GCFC2 Nonsynonymous SNV Q256E 0.049 0.057 0.031 17 57 22 0.044 9 3 0 0 0 2.189 43437 chr2 97166296 97166296 A G rs3731937 NEURL3 Nonsynonymous SNV C132R 0.055 0.047 0.051 19 64 18 0.049 15 1 0 0 0 0.597 43438 chr6 40998141 40998141 G A rs736795 UNC5CL Synonymous SNV C440C 0.187 0.203 0.187 74 220 78 0.19 55 17 6 4 4 9.68 43439 chr2 27677464 27677464 A C rs202111577 IFT172 Nonsynonymous SNV H1145Q 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Uncertain significance 23.8 43440 chr2 97271090 97271090 G A rs35715176 KANSL3 Nonsynonymous SNV P432S 0.044 0.047 0.034 14 52 18 0.036 10 1 0 0 0 5.959 43441 chr6 41029109 41029109 T C rs2073014 APOBEC2 Synonymous SNV N58N 0.126 0.151 0.194 53 148 58 0.136 57 7 2 3 3 0.818 43442 chr6 41029342 41029342 T C rs2076472 APOBEC2 Nonsynonymous SNV I136T 0.127 0.151 0.194 53 149 58 0.136 57 7 2 3 3 1.61 43443 chr14 30107738 30107738 C T rs2273807 PRKD1 Synonymous SNV P314P 0 0 0.01 4 0 0 0.01 3 0 0 0 0 19.58 43444 chr2 97297114 97297114 G A rs35809433 KANSL3 Synonymous SNV V107V 0.024 0.021 0.024 4 28 8 0.01 7 0 0 0 0 12.04 43445 chr2 60688928 60688928 C T rs147757821 BCL11A Synonymous SNV P339P 0.014 0.005 0.003 3 16 2 0.008 1 0 0 0 0 Benign 7.653 43446 chr6 41487302 41487302 A G rs2496648 LINC01276 0 0 0.762 0 0 0 0 224 0 0 111 0 2.749 43447 chr14 105420590 105420590 C T rs140752229 AHNAK2 Nonsynonymous SNV G300S 0.017 0.01 0.003 4 20 4 0.01 1 0 0 0 0 19.5 43448 chr2 97359364 97359364 A G rs61750875 FER1L5 Synonymous SNV P1138P 0.149 0.133 0.156 32 175 51 0.082 46 19 5 1 0 8.683 43449 chr6 41652514 41652514 C T rs2073158 TFEB Synonymous SNV A333A 0.157 0.146 0.16 58 184 56 0.149 47 12 5 2 2 13.88 43450 chr2 97366088 97366088 T C rs61742095 FER1L5 Synonymous SNV V1650V 0.14 0.115 0.143 32 164 44 0.082 42 15 3 1 0 14.26 43451 chr2 97464936 97464936 G A rs36121810 CNNM4 Synonymous SNV P608P 0.008 0.013 0.003 1 9 5 0.003 1 0 0 0 0 Benign 10.72 43452 chr2 84880445 84880445 G C rs28375417 DNAH6 Nonsynonymous SNV G1694A 0.175 0.164 0.16 47 206 63 0.121 47 22 8 2 3 Benign 10.43 43453 chr6 41739173 41739173 C T rs35310379 FRS3 Synonymous SNV P221P 0.069 0.104 0.105 30 81 40 0.077 31 3 1 0 2 8.31 43454 chr2 84924823 84924823 T C rs78190897 DNAH6 Nonsynonymous SNV V2550A 0.145 0.133 0.167 56 170 51 0.144 49 12 1 4 2 Benign 0.002 43455 chr2 84861723 84861723 C T rs7570005 DNAH6 Synonymous SNV I1537I 0.108 0.107 0.088 23 127 41 0.059 26 10 3 1 1 Benign 18.14 43456 chr2 97637806 97637806 C T rs7602647 FAM178B Synonymous SNV Q132Q 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 1.797 43457 chr2 28113195 28113195 T C rs148593620 RBKS Synonymous SNV E6E 0.018 0.01 0.014 9 21 4 0.023 4 0 0 0 0 0.085 43458 chr3 11887993 11887993 G A rs144232229 TAMM41 Nonsynonymous SNV P40S 0.014 0.01 0.007 6 16 4 0.015 2 0 0 0 0 11.29 43459 chr2 85625222 85625222 T G rs6885 CAPG Synonymous SNV P240P 0.171 0.198 0.167 68 201 76 0.174 49 14 7 4 7 11.28 43460 chr2 84921433 84921433 A G rs1192295 DNAH6 Synonymous SNV T2451T 0.064 0.068 0.061 21 75 26 0.054 18 1 2 0 1 Benign 5.095 43461 chr2 84932836 84932836 G A rs1192269 DNAH6 Nonsynonymous SNV V2898I 0.056 0.055 0.041 17 66 21 0.044 12 1 1 0 1 Benign 26.4 43462 chr3 119305169 119305169 G A rs20569 ADPRH Synonymous SNV P5P 0.131 0.12 0.133 42 154 46 0.108 39 15 4 2 3 2.275 43463 chr2 84945469 84945469 G A rs1192344 DNAH6 Synonymous SNV L3251L 0.062 0.068 0.061 21 73 26 0.054 18 1 2 0 1 Benign 11.91 43464 chr2 62100380 62100380 G T rs76248080 CCT4 Synonymous SNV I292I 0.245 0.289 0.187 103 288 111 0.264 55 30 18 6 11 10.4 43465 chr3 119331874 119331874 C T rs2272270 PLA1A Synonymous SNV P18P 0.158 0.146 0.163 45 185 56 0.115 48 15 6 4 3 14.34 43466 chr2 85097590 85097590 C T rs1863772 TRABD2A Nonsynonymous SNV R143H 0.037 0.049 0.037 12 44 19 0.031 11 0 0 0 0 24 43467 chr3 119331892 119331892 C G rs2272269 PLA1A Synonymous SNV T24T 0.158 0.146 0.167 45 185 56 0.115 49 15 6 4 3 7.613 43468 chr2 85536415 85536415 G A rs11547160 TCF7L1 Nonsynonymous SNV G533R 0.049 0.07 0.031 22 58 27 0.056 9 1 1 0 0 18.93 43469 chr3 119338492 119338492 G A rs61733986 PLA1A Synonymous SNV P162P 0.132 0.12 0.112 41 155 46 0.105 33 13 3 2 4 8.21 43470 chr6 42224546 42224546 A T rs2295275 TRERF1 Nonsynonymous SNV C854S 0.08 0.109 0.109 24 94 42 0.062 32 2 2 1 1 18.1 43471 chr14 34243639 34243639 G A rs772795062 NPAS3 Nonsynonymous SNV A287T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 25.5 43472 chr2 66691348 66691348 G A rs1135875 MEIS1 Synonymous SNV E246E 0.009 0.01 0 6 10 4 0.015 0 0 0 0 0 7.338 43473 chr2 29225502 29225502 T G rs72786178 TOGARAM2 Synonymous SNV P176P 0.088 0.094 0.078 37 103 36 0.095 23 3 1 0 3 4.642 43474 chr2 29225504 29225504 T C rs72786179 TOGARAM2 Nonsynonymous SNV L177P 0.088 0.094 0.078 37 103 36 0.095 23 3 1 0 3 8.377 43475 chr2 99438345 99438345 C T rs60496162 KIAA1211L Synonymous SNV E797E 0.02 0.034 0.01 14 24 13 0.036 3 0 1 0 0 8.294 43476 chr15 23006734 23006734 C T rs145797709 NIPA2 Synonymous SNV A171A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.703 43477 chr2 29226389 29226389 A G rs80120243 TOGARAM2 Nonsynonymous SNV N224S 0.007 0.016 0.003 1 8 6 0.003 1 2 0 0 0 0.183 43478 chr2 99438521 99438521 T C rs61042973 KIAA1211L Nonsynonymous SNV T739A 0.02 0.034 0.014 14 24 13 0.036 4 0 1 0 0 0.027 43479 chr2 85554648 85554648 C T TGOLN2 Synonymous SNV K69K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.9 43480 chr2 99439792 99439792 G C rs3731660 KIAA1211L Nonsynonymous SNV S315C 0.02 0.031 0.003 11 23 12 0.028 1 0 1 0 0 0.197 43481 chr2 29226417 29226417 C T rs76285160 TOGARAM2 Synonymous SNV G233G 0.01 0.021 0.003 3 12 8 0.008 1 2 0 0 0 12.91 43482 chr2 85595818 85595818 C T rs955592 ELMOD3 Nonsynonymous SNV T70I 0.049 0.049 0.065 19 58 19 0.049 19 1 0 0 1 Benign 11.12 43483 chr6 42713554 42713554 C A rs144361927 TBCC Nonsynonymous SNV E86D 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 16.07 43484 chr2 232323821 232323821 C T NCL Synonymous SNV V352V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 43485 chr2 85617327 85617327 C T rs17850708 ELMOD3 Synonymous SNV H294H 0.054 0.078 0.034 25 63 30 0.064 10 0 1 0 0 Benign 14.5 43486 chr2 85617913 85617913 G T rs17850709 ELMOD3 Nonsynonymous SNV R325L 0.054 0.078 0.034 25 63 30 0.064 10 0 1 0 0 16.31 43487 chr3 120976051 120976051 C G rs17249244 STXBP5L Nonsynonymous SNV T568S 0.146 0.138 0.177 60 171 53 0.154 52 10 2 5 5 12.57 43488 chr2 232393036 232393036 C T rs138714852 NMUR1 Synonymous SNV V232V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.619 43489 chr15 25969090 25969090 G T rs17116056 ATP10A Nonsynonymous SNV S353Y 0.03 0.026 0.041 14 35 10 0.036 12 1 0 0 2 28.2 43490 chr6 42893226 42893226 C T rs200928800 PTCRA Nonsynonymous SNV R111C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.99 43491 chr2 99995517 99995517 C T rs11896520 EIF5B Synonymous SNV T626T 0.288 0.26 0.269 116 338 100 0.297 79 58 19 11 17 17.67 43492 chr15 25981223 25981223 C G rs75541743 ATP10A Synonymous SNV L240L 0.051 0.036 0.048 17 60 14 0.044 14 3 0 0 1 9.813 43493 chr2 85628745 85628745 C T rs2229669 CAPG Synonymous SNV T86T 0.05 0.078 0.037 25 59 30 0.064 11 0 1 0 0 18.94 43494 chr2 85628983 85628983 C T rs2229668 CAPG Nonsynonymous SNV V41I 0.109 0.128 0.105 46 128 49 0.118 31 4 1 1 2 0.314 43495 chr2 69040500 69040500 G A rs2280310 ARHGAP25 Synonymous SNV Q245Q 0.167 0.161 0.163 68 196 62 0.174 48 20 3 2 3 8.307 43496 chr2 69049939 69049939 G T rs4241344 ARHGAP25 Nonsynonymous SNV R549S 0.165 0.161 0.16 68 194 62 0.174 47 19 3 2 3 10.13 43497 chr14 38218343 38218343 A G rs12586727 TTC6 Nonsynonymous SNV I871V 0.115 0.091 0.109 40 135 35 0.103 32 5 3 3 1 0.001 43498 chr3 121345694 121345694 G A rs34299530 FBXO40 Synonymous SNV E689E 0.044 0.063 0.031 17 52 24 0.044 9 0 0 0 0 5.013 43499 chr2 85836182 85836182 G C C2orf68 Nonsynonymous SNV D129E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.4 43500 chr2 69053141 69053141 G A rs137856874 ARHGAP25 Nonsynonymous SNV V579I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 43501 chr2 233721525 233721525 G A rs34424361 GIGYF2 Synonymous SNV S1279S 0.015 0.018 0.014 0 18 7 0 4 0 0 0 0 11.56 43502 chr14 38679763 38679763 - GCTCTGAGCCCGGGCCACGCAGGG rs375891291 SSTR1 Stop gain T390delinsTLX 0.075 0.078 0.207 52 88 30 0.133 61 26 8 6 14 43503 chr3 101283792 101283792 C G rs3762735 TRMT10C Nonsynonymous SNV P56R 0.185 0.185 0.238 82 217 71 0.21 70 16 7 9 7 Benign 4.862 43504 chr2 69597209 69597209 A G rs2230300 GFPT1 Synonymous SNV D49D 0.014 0.013 0.01 4 17 5 0.01 3 1 0 0 0 Conflicting interpretations of pathogenicity 7.324 43505 chr2 85981632 85981632 C A rs556162635 ATOH8 Nonsynonymous SNV A107E 0.003 0 0 0 3 0 0 0 0 0 0 0 28.3 43506 chr2 87042825 87042825 T C rs35555413 CD8B Nonsynonymous SNV I183V 0.095 0.133 0.122 40 111 51 0.103 36 8 3 1 1 8.426 43507 chr6 43492578 43492578 G A rs2257082 XPO5 Synonymous SNV Y1101Y 0.25 0.273 0.289 98 293 105 0.251 85 40 12 16 14 3.775 43508 chr3 121356062 121356062 C T rs34767273 HCLS1 Nonsynonymous SNV D166N 0.032 0.044 0.01 12 38 17 0.031 3 0 0 0 0 25.7 43509 chr3 10251340 10251340 C G rs464286 IRAK2 Synonymous SNV S164S 0.084 0.083 0.082 28 99 32 0.072 24 3 1 2 0 10.64 43510 chr6 43565568 43565568 G T rs2307456 POLH Nonsynonymous SNV G85V 0.008 0.003 0.027 1 9 1 0.003 8 0 0 0 0 Benign/Likely benign 28.1 43511 chr14 39764176 39764176 G C rs17855896 MIA2 Nonsynonymous SNV K125N 0.037 0.042 0.027 21 43 16 0.054 8 0 0 2 0 21.4 43512 chr2 86269163 86269163 C T rs34892520 POLR1A Nonsynonymous SNV A1141T 0.067 0.057 0.075 18 79 22 0.046 22 5 0 3 0 12.86 43513 chr15 31319127 31319127 G A rs763463725 TRPM1 Nonsynonymous SNV R1180C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 43514 chr2 31424821 31424821 C T rs759802764 CAPN14 Nonsynonymous SNV R153H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.1 43515 chr3 10311939 10311939 C T rs2075352 TATDN2 Nonsynonymous SNV P358L 0.12 0.107 0.099 33 141 41 0.085 29 10 0 2 1 18.4 43516 chr3 121417374 121417374 A G rs765644126 GOLGB1 Synonymous SNV L586L 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.044 43517 chr2 234580805 234580805 G A rs41264153 UGT1A9 Synonymous SNV K75K 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 8.453 43518 chr3 10312113 10312113 T C rs61730105 TATDN2 Nonsynonymous SNV M416T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.129 43519 chr3 10312507 10312507 A G rs2075353 TATDN2 Synonymous SNV L547L 0.118 0.107 0.095 34 139 41 0.087 28 9 0 2 1 9.336 43520 chr2 31610701 31610701 C T rs45575032 XDH Synonymous SNV E209E 0.045 0.044 0.034 18 53 17 0.046 10 2 0 0 1 Benign 15.03 43521 chr3 10312534 10312534 G A rs56261813 TATDN2 Synonymous SNV L556L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 10.8 43522 chr2 31611143 31611143 C T rs45523133 XDH Nonsynonymous SNV G172R 0.045 0.044 0.034 18 53 17 0.046 10 2 0 0 1 Likely benign 18.86 43523 chr6 46108916 46108916 C G rs9472696 ENPP4 Synonymous SNV A318A 0.066 0.068 0.071 20 78 26 0.051 21 0 0 1 2 10.92 43524 chr2 95815306 95815306 C T rs36045840 ZNF514 Synonymous SNV R381R 0.043 0.052 0.031 16 51 20 0.041 9 1 1 0 0 15.7 43525 chr6 46609905 46609905 C T rs2277119 CYP39A1 Nonsynonymous SNV R103H 0.283 0.31 0.224 120 332 119 0.308 66 48 19 11 17 0.146 43526 chr2 33484666 33484666 C G rs61754245 LTBP1 Nonsynonymous SNV P477A 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 14.12 43527 chr2 33505139 33505139 C A rs2290427 LTBP1 Nonsynonymous SNV P683Q 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 32 43528 chr6 46659265 46659265 G T TDRD6 Nonsynonymous SNV D1134Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 43529 chr6 46846043 46846043 T A rs41273668 ADGRF5 Nonsynonymous SNV K379M 0.049 0.055 0.031 21 57 21 0.054 9 1 1 1 1 21 43530 chr6 46984436 46984436 A G rs147631696 ADGRF1 Nonsynonymous SNV I227T 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 21.2 43531 chr2 96943635 96943635 G A rs139731897 SNRNP200 Synonymous SNV H1888H 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Benign/Likely benign 9.441 43532 chr2 95691596 95691596 C T rs145146615 MAL Nonsynonymous SNV T20I 0.037 0.023 0.017 9 44 9 0.023 5 1 0 0 0 12.73 43533 chr2 95775761 95775761 G A rs113259652 MRPS5 Synonymous SNV G22G 0.076 0.078 0.061 23 89 30 0.059 18 4 0 0 0 10.69 43534 chr2 3673648 3673648 G A rs10170348 COLEC11 Synonymous SNV K53K 0.086 0.109 0.095 31 101 42 0.079 28 3 2 1 6 Benign 1.395 43535 chr14 50318287 50318287 G C rs75778865 NEMF Synonymous SNV A75A 0.015 0.021 0.017 4 18 8 0.01 5 0 0 0 0 Benign 7.651 43536 chr2 9583781 9583781 G T rs143074563 CPSF3 Synonymous SNV P374P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.79 43537 chr14 50581011 50581011 A C rs142528336 VCPKMT Nonsynonymous SNV Y188D 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 28.2 43538 chr2 71376471 71376471 G A rs115361918 MPHOSPH10 Nonsynonymous SNV R595Q 0.014 0.018 0.017 2 17 7 0.005 5 0 1 0 0 33 43539 chr2 37295867 37295867 G A rs75759149 HEATR5B Synonymous SNV A378A 0.025 0.016 0.007 9 29 6 0.023 2 0 0 0 0 11.6 43540 chr2 95954294 95954294 G A rs200062940 PROM2 Nonsynonymous SNV V800I 0.008 0.003 0 0 9 1 0 0 0 0 0 0 17.1 43541 chr6 49485266 49485266 C A rs9367358 GLYATL3 Nonsynonymous SNV Q104K 0.217 0.185 0.204 76 255 71 0.195 60 31 5 4 5 25.7 43542 chr3 111313030 111313030 C T rs34321066 ZBED2 Nonsynonymous SNV E7K 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 23 43543 chr2 71738987 71738987 C T rs34603128 DYSF Synonymous SNV P132P 0.135 0.141 0.112 46 159 54 0.118 33 11 5 2 1 Benign/Likely benign 14.36 43544 chr2 96933377 96933377 C T rs148682902 CIAO1 Synonymous SNV L101L 0.016 0.01 0.037 4 19 4 0.01 11 0 0 0 0 15.03 43545 chr6 49580194 49580194 C T rs10485291 RHAG Synonymous SNV A287A 0.01 0.016 0.037 10 12 6 0.026 11 0 0 0 0 12.7 43546 chr2 73316053 73316053 G C RAB11FIP5 Synonymous SNV L274L 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 0.826 43547 chr2 73435696 73435696 A C NOTO Nonsynonymous SNV K184T 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 23.6 43548 chr3 123298615 123298615 T C rs3109650 HACD2 Nonsynonymous SNV N92S 0.198 0.221 0 87 232 85 0.223 0 34 13 0 13 0.966 43549 chr3 111918215 111918215 C T rs28516377 SLC9C1 Nonsynonymous SNV G778S 0.237 0.24 0.139 100 278 92 0.256 41 28 12 6 14 0.003 43550 chr6 5042962 5042962 A C rs2793258 LYRM4-AS1 0 0 0.81 0 0 0 0 238 0 0 99 0 3.655 43551 chr3 123303821 123303821 G C rs1271004 HACD2 Synonymous SNV G18G 0.193 0.216 0.143 84 227 83 0.215 42 34 13 6 13 6.253 43552 chr2 237075031 237075031 G A rs113549935 GBX2 Nonsynonymous SNV P204S 0.009 0.016 0.007 7 11 6 0.018 2 0 0 0 0 8.387 43553 chr3 111921116 111921116 C A rs9288938 SLC9C1 Nonsynonymous SNV S720I 0.235 0.24 0.194 100 276 92 0.256 57 28 12 8 14 28.8 43554 chr2 97638311 97638311 G A rs146972264 FAM178B Nonsynonymous SNV P36S 0.016 0.026 0.014 10 19 10 0.026 4 0 0 0 0 5.425 43555 chr2 238244781 238244781 T C rs11690358 COL6A3 Nonsynonymous SNV M2381V 0.097 0.083 0.054 22 114 32 0.056 16 6 1 1 0 Benign 1.618 43556 chr3 111962851 111962851 T C rs6768523 SLC9C1 Nonsynonymous SNV T376A 0.233 0.234 0.197 99 274 90 0.254 58 28 12 8 14 8.948 43557 chr2 238244864 238244866 GCA - rs35879189 COL6A3 A2353del 0.111 0.091 0.065 32 130 35 0.082 19 8 3 1 0 43558 chr2 238244923 238244923 C T rs11683438 COL6A3 Synonymous SNV T2333T 0.096 0.081 0.054 21 113 31 0.054 16 6 1 1 0 Benign 13.62 43559 chr2 42990476 42990476 G A rs147328832 OXER1 Nonsynonymous SNV R282C 0.008 0.01 0.003 5 9 4 0.013 1 0 0 0 0 24.3 43560 chr2 38829737 38829737 G A rs34376380 HNRNPLL Nonsynonymous SNV T11M 0.02 0.023 0.01 5 23 9 0.013 3 1 0 0 0 22.7 43561 chr2 238249108 238249108 T C rs61729844 COL6A3 Synonymous SNV P2210P 0.097 0.083 0.054 21 114 32 0.054 16 6 1 1 0 Benign 0.006 43562 chr2 39008949 39008949 G A rs1056104 GEMIN6 Nonsynonymous SNV G140D 0.105 0.109 0.088 32 123 42 0.082 26 5 4 2 1 21.2 43563 chr3 111985107 111985107 T C rs9872691 SLC9C1 Nonsynonymous SNV I286V 0.216 0.232 0.197 94 253 89 0.241 58 28 12 8 13 0.038 43564 chr3 124196094 124196094 A T rs2289843 KALRN Synonymous SNV A1316A 0.094 0.107 0.088 31 110 41 0.079 26 6 0 3 1 11.22 43565 chr2 238249717 238249717 G A rs34558385 COL6A3 Synonymous SNV S2007S 0.096 0.081 0.054 21 113 31 0.054 16 6 1 1 0 Benign 11.65 43566 chr3 111996554 111996554 T C rs9828502 SLC9C1 Nonsynonymous SNV I158V 0.238 0.24 0.201 100 279 92 0.256 59 29 12 8 14 0.001 43567 chr3 124567347 124567347 C T rs61757101 ITGB5 Synonymous SNV L32L 0.016 0.026 0.014 4 19 10 0.01 4 0 0 0 0 Benign 15.31 43568 chr6 51947237 51947237 G A rs9474143 PKHD1 Synonymous SNV D78D 0.261 0.206 0.299 97 306 79 0.249 88 44 10 16 12 Benign 5.597 43569 chr3 100002602 100002602 A G rs62636641 TBC1D23 Synonymous SNV P141P 0.01 0.016 0.007 2 12 6 0.005 2 0 0 0 0 7.182 43570 chr3 124639097 124639097 C T rs147560034 MUC13 Nonsynonymous SNV V261I 0.014 0.021 0 4 17 8 0.01 0 0 0 0 0 13.15 43571 chr6 52343899 52343899 T C rs1266787 EFHC1 Nonsynonymous SNV M448T 0.034 0.039 0.034 11 40 15 0.028 10 0 0 0 0 Benign/Likely benign 7.092 43572 chr14 52505546 52505546 C T rs35147930 NID2 Nonsynonymous SNV V726M 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 24.3 43573 chr2 39186896 39186896 G A rs11691022 LOC375196 0.046 0.039 0.051 7 54 15 0.018 15 1 0 0 0 10.71 43574 chr6 52849325 52849325 C T rs1802061 GSTA4 Synonymous SNV Q117Q 0.063 0.063 0.051 36 74 24 0.092 15 4 0 0 2 11.76 43575 chr2 84756035 84756035 G A rs76200524 DNAH6 Nonsynonymous SNV R136Q 0.007 0.01 0.014 8 8 4 0.021 4 0 0 0 0 0.008 43576 chr6 53134024 53134024 C T ELOVL5 Nonsynonymous SNV G226R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.552 43577 chr6 53202035 53202035 T C rs209510 RPS16P5 0 0 0.483 0 0 0 0 142 0 0 36 0 7.157 43578 chr3 112289505 112289505 C T rs35692417 SLC35A5 Synonymous SNV S116S 0.06 0.057 0.048 15 71 22 0.038 14 1 0 0 0 16.32 43579 chr3 112546306 112546306 C A rs4682119 CD200R1L Nonsynonymous SNV R113L 0.216 0.237 0.194 84 253 91 0.215 57 27 7 4 11 12.28 43580 chr6 53847640 53847640 G A rs142998088 LOC101927189 0.008 0.008 0.014 4 9 3 0.01 4 0 0 0 0 17.38 43581 chr2 84861729 84861729 G A rs61730451 DNAH6 Synonymous SNV Q1539Q 0.02 0.029 0.031 15 23 11 0.038 9 0 0 0 0 9.189 43582 chr3 101298746 101298746 C T PCNP Synonymous SNV A59A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.24 43583 chr6 54095524 54095524 C T rs2275769 MLIP Nonsynonymous SNV P376S 0.128 0.122 0.109 59 150 47 0.151 32 10 6 3 4 17.64 43584 chr2 85024731 85024731 C T rs1192395 DNAH6 Synonymous SNV I3810I 0.098 0.083 0.109 31 115 32 0.079 32 6 0 0 0 Benign 17.64 43585 chr3 10400481 10400481 C T ATP2B2 Nonsynonymous SNV R632H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 43586 chr2 85051122 85051122 G A rs1649292 TRABD2A Nonsynonymous SNV P381L 0.151 0.154 0.139 43 177 59 0.11 41 17 3 1 1 11.87 43587 chr2 85133216 85133216 G A rs7148 TMSB10 Synonymous SNV E25E 0.097 0.083 0.041 38 114 32 0.097 12 5 0 1 4 12.89 43588 chr6 54806379 54806379 A G rs17678648 FAM83B Synonymous SNV P870P 0.065 0.083 0.044 25 76 32 0.064 13 2 1 0 0 0.004 43589 chr3 112710133 112710133 T A rs114429530 GTPBP8 Nonsynonymous SNV V96D 0.02 0.026 0.02 4 23 10 0.01 6 0 0 0 0 23.5 43590 chr3 105404298 105404298 C T rs34801525 CBLB Synonymous SNV P640P 0.032 0.013 0.02 5 38 5 0.013 6 1 0 0 0 Benign 17.07 43591 chr2 43655277 43655279 AGA - rs200282553 THADA S1340del 0.024 0.018 0.01 11 28 7 0.028 3 0 0 0 0 43592 chr3 105464766 105464766 G A rs9657906 CBLB Synonymous SNV P231P 0.043 0.023 0.024 8 51 9 0.021 7 1 0 0 1 12.92 43593 chr3 107096547 107096547 G A rs709564 CCDC54 Nonsynonymous SNV R38Q 0.183 0.18 0.259 71 215 69 0.182 76 18 6 11 7 0.033 43594 chr2 43973099 43973099 A G rs17031368 PLEKHH2 Nonsynonymous SNV N1217S 0.027 0.01 0.027 14 32 4 0.036 8 1 0 0 2 12.56 43595 chr15 41771375 41771375 T A RTF1 Nonsynonymous SNV D631E 0 0 0 0 0 0 0 0 0 0 0 0 16.12 43596 chr3 125734340 125734340 A T rs145669752 SLC41A3 Nonsynonymous SNV C287S 0.035 0.036 0.017 10 41 14 0.026 5 0 1 0 0 5.396 43597 chr3 11301791 11301791 A G rs2067468 HRH1 Synonymous SNV Q356Q 0.038 0.049 0.061 19 45 19 0.049 18 2 0 0 0 0.003 43598 chr2 46707812 46707812 - GCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGGAGCA rs775332040 TMEM247 E141_R142insQQHEVVMEQLQRE 0.018 0.026 0.003 4 21 10 0.01 1 0 0 0 0 43599 chr15 41861222 41861222 T C rs781326718 TYRO3 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 43600 chr2 46707886 46707886 G A rs12612916 TMEM247 Nonsynonymous SNV E154K 0.037 0.039 0.014 13 44 15 0.033 4 2 0 0 1 9.761 43601 chr14 58583196 58583196 G A rs116978305 ARMH4 Nonsynonymous SNV R621C 0.038 0.018 0.058 11 45 7 0.028 17 4 0 0 2 3.331 43602 chr2 239177611 239177611 A G PER2 Synonymous SNV S259S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.478 43603 chr14 58604850 58604850 A C rs11626667 ARMH4 Synonymous SNV V409V 0.047 0.039 0.048 14 55 15 0.036 14 4 0 0 2 0.146 43604 chr14 58830978 58830978 A G rs2230098 ARID4A Nonsynonymous SNV N724S 0.024 0.031 0.003 8 28 12 0.021 1 0 0 0 0 0.005 43605 chr6 57254950 57254950 - T rs397962125 MIR548U 0 0 0.5 0 0 0 0 147 0 0 0 0 43606 chr6 57254955 57254955 G A rs2894842 MIR548U 0 0 0.5 0 0 0 0 147 0 0 0 0 9.444 43607 chr6 57254986 57254986 G A rs2397267 MIR548U 0 0 0.497 0 0 0 0 146 0 0 0 0 3.561 43608 chr6 57255001 57255001 C A rs2894843 MIR548U 0 0 0.497 0 0 0 0 146 0 0 0 0 5.434 43609 chr6 6169656 6169656 T C rs7769202 MIR7853 0 0 0.388 0 0 0 0 114 0 0 21 0 1.04 43610 chr3 108754214 108754214 T C rs3762697 MORC1 Nonsynonymous SNV M478V 0.124 0.133 0.167 42 146 51 0.108 49 6 3 6 3 12.76 43611 chr2 48873662 48873662 T C rs13396590 GTF2A1L, STON1-GTF2A1L Synonymous SNV H119H 0.043 0.042 0.02 21 51 16 0.054 6 3 1 0 1 9.95 43612 chr6 62390920 62390920 G A rs61753606 KHDRBS2 Nonsynonymous SNV P333L 0.038 0.036 0.058 21 45 14 0.054 17 2 1 1 1 21.4 43613 chr2 48873925 48873925 A G rs61755864 GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV Y207C 0.037 0.031 0.017 20 44 12 0.051 5 2 1 0 1 0.193 43614 chr14 58899157 58899157 G - rs534542684 KIAA0586 R46Kfs*4 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 43615 chr2 45780776 45780776 G A rs147005902 SRBD1 Synonymous SNV L501L 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 10.99 43616 chr2 240003813 240003813 G A rs61754649 HDAC4 Synonymous SNV S874S 0.043 0.036 0.031 9 51 14 0.023 9 2 0 0 0 14.17 43617 chr3 10331457 10331457 G T rs696217 GHRL Nonsynonymous SNV L60M 0.083 0.073 0.034 15 97 28 0.038 10 4 0 1 1 Pathogenic, risk factor 23.1 43618 chr2 240011717 240011717 T C rs61752234 HDAC4 Synonymous SNV T787T 0.045 0.044 0.037 21 53 17 0.054 11 0 0 0 1 2.948 43619 chr3 127642814 127642814 G C rs61268888 KBTBD12 Nonsynonymous SNV V304L 0.135 0.143 0.139 62 159 55 0.159 41 10 5 3 3 0.02 43620 chr2 88407922 88407922 G A rs112558914 SMYD1 Nonsynonymous SNV G380D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.3 43621 chr3 10413601 10413601 G A rs2289273 ATP2B2 Synonymous SNV G472G 0.122 0.13 0.139 38 143 50 0.097 41 9 1 3 1 8.803 43622 chr2 48921438 48921438 T C rs12470652 LHCGR Nonsynonymous SNV N291S 0.034 0.029 0.017 19 40 11 0.049 5 1 1 0 1 Benign 9.047 43623 chr3 111432805 111432805 G A rs17423699 PLCXD2 Synonymous SNV A232A 0.109 0.12 0.075 46 128 46 0.118 22 6 4 0 6 12.35 43624 chr3 128181537 128181537 C T rs2953129 DNAJB8 Synonymous SNV S184S 0.204 0.206 0.207 81 239 79 0.208 61 20 6 5 5 12.1 43625 chr3 111710398 111710398 A G rs17429033 ABHD10 Nonsynonymous SNV I251V 0.091 0.102 0.065 42 107 39 0.108 19 3 2 1 5 0.001 43626 chr14 59931697 59931697 G A rs3742646 GPR135 Nonsynonymous SNV A83V 0.02 0.018 0.051 11 23 7 0.028 15 1 0 0 0 22.9 43627 chr3 105258861 105258861 A G rs1044240 ALCAM Nonsynonymous SNV N258S 0.187 0.214 0.184 73 219 82 0.187 54 23 10 6 10 0.001 43628 chr3 128182074 128182074 G A rs2981026 DNAJB8 Synonymous SNV Y5Y 0.281 0.331 0.276 125 330 127 0.321 81 41 22 9 16 6.523 43629 chr2 48807869 48807869 G A rs62135239 STON1, STON1-GTF2A1L Nonsynonymous SNV G33S 0.015 0.016 0.014 10 18 6 0.026 4 0 0 0 0 8.354 43630 chr14 59939804 59939804 G A rs1046701 L3HYPDH Nonsynonymous SNV A144V 0.021 0.018 0.054 11 25 7 0.028 16 1 0 0 0 15.31 43631 chr3 113376111 113376113 TGC - rs10606566 USF3 Q1478del 0.306 0.24 0.289 92 359 92 0.236 85 127 29 31 31 43632 chr3 113378441 113378441 G A rs75490047 USF3 Synonymous SNV S696S 0.03 0.047 0.037 13 35 18 0.033 11 0 1 0 0 9.132 43633 chr2 50574038 50574038 C A rs13413205 NRXN1 Nonsynonymous SNV G17V 0.061 0.047 0.105 32 72 18 0.082 31 4 1 3 2 Benign 0.914 43634 chr14 60011922 60011922 C T rs113568656 CCDC175 Synonymous SNV E377E 0.021 0.016 0.054 11 25 6 0.028 16 1 0 0 0 5.898 43635 chr14 60027907 60027907 C T rs112952088 CCDC175 Nonsynonymous SNV E295K 0.02 0.013 0.041 11 23 5 0.028 12 1 0 0 0 22.4 43636 chr3 108147543 108147543 C A rs61745179 MYH15 Synonymous SNV L1186L 0.099 0.102 0.082 46 116 39 0.118 24 9 1 2 7 8.347 43637 chr3 113737567 113737567 C T rs76418892 CCDC191 Nonsynonymous SNV R352Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23 43638 chr2 54096547 54096547 G T rs377408185 PSME4 Nonsynonymous SNV D1743E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.57 43639 chr3 113804708 113804708 A G rs34402903 QTRT2 Nonsynonymous SNV K296R 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 0.738 43640 chr2 241569454 241569454 G A rs139197368 GPR35 Nonsynonymous SNV V29I 0.02 0.021 0.007 2 23 8 0.005 2 0 0 0 0 Benign 0.001 43641 chr3 108273272 108273272 T C rs13071874 CIP2A Nonsynonymous SNV I759V 0.02 0.023 0.007 6 24 9 0.015 2 1 0 0 0 12.75 43642 chr3 113890789 113890789 T C rs3732783 DRD3 Synonymous SNV A17A 0.073 0.091 0.068 31 86 35 0.079 20 2 5 0 2 Benign 0.089 43643 chr3 11389502 11389502 C T rs143545741 ATG7 Nonsynonymous SNV P387L 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 34 43644 chr3 129275206 129275206 C T rs11920311 PLXND1 Synonymous SNV Q1909Q 0.137 0.148 0.207 35 161 57 0.09 61 5 3 9 2 12.78 43645 chr6 7313338 7313338 G C rs62624976 SSR1 Nonsynonymous SNV R6G 0.03 0.036 0.031 13 35 14 0.033 9 0 1 1 1 26.3 43646 chr3 11400019 11400019 T C rs36117895 ATG7 Nonsynonymous SNV V432A 0.037 0.047 0.058 17 44 18 0.044 17 2 0 0 0 25.3 43647 chr2 50847195 50847195 G A rs78540316 NRXN1 Nonsynonymous SNV P401S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign/Likely benign 23.8 43648 chr6 73332121 73332121 C T rs34821312 KCNQ5 Synonymous SNV L68L 0.236 0.206 0.18 87 277 79 0.223 53 45 12 6 16 8.827 43649 chr2 241903943 241903943 G A rs77569264 CROCC2 Synonymous SNV A1122A 0.033 0.042 0.014 12 39 16 0.031 4 0 0 0 0 6.625 43650 chr15 43678117 43678117 G A rs147411843 TUBGCP4 Synonymous SNV Q284Q 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 10.07 43651 chr6 74190448 74190448 T C rs2036039 MTO1 Synonymous SNV L394L 0.228 0.221 0.194 75 268 85 0.192 57 36 9 8 7 Benign 1.352 43652 chr3 129324608 129324608 C G rs79870266 PLXND1 Nonsynonymous SNV G292A 0.031 0.021 0.041 11 36 8 0.028 12 0 0 0 0 0.002 43653 chr15 43818926 43818926 C T rs45569034 MAP1A Nonsynonymous SNV A1752V 0.039 0.049 0.037 12 46 19 0.031 11 1 1 1 0 14.37 43654 chr6 74446214 74446214 A G rs148575660 CD109 Nonsynonymous SNV I129V 0.009 0.018 0.007 1 11 7 0.003 2 1 0 0 0 Benign 25.3 43655 chr2 97482098 97482098 G C rs146227689 CNNM3 Synonymous SNV A28A 0.02 0.034 0 5 23 13 0.013 0 1 0 0 0 2.297 43656 chr2 242011084 242011084 T C rs17440466 SNED1 Nonsynonymous SNV L1228P 0.047 0.055 0.116 22 55 21 0.056 34 4 3 2 5 14.83 43657 chr2 242079396 242079396 C A PASK Synonymous SNV T168T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 43658 chr3 118945796 118945796 G C rs3764779 B4GALT4 Nonsynonymous SNV Q116E 0.181 0.18 0.201 80 212 69 0.205 59 24 7 7 8 0.007 43659 chr6 76138146 76138146 - AG rs398110299 MIR4463 0 0 0.616 0 0 0 0 181 0 0 58 0 43660 chr3 130116707 130116707 C T rs74695611 COL6A5 Synonymous SNV N1283N 0.056 0.068 0.075 17 66 26 0.044 22 2 1 1 0 14.82 43661 chr2 5833884 5833884 - CAGCAGCAGCGG rs751221446 SOX11 S354_G355insSGSS 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 43662 chr3 113187648 113187648 C T rs73239152 SPICE1 Nonsynonymous SNV V284M 0.02 0.013 0.017 8 24 5 0.021 5 0 1 0 0 24 43663 chr2 98275354 98275354 G A rs11692435 ACTR1B Nonsynonymous SNV A143V 0.031 0.029 0.027 16 36 11 0.041 8 0 0 0 1 29.7 43664 chr3 119196166 119196166 T C rs3732420 POGLUT1 Synonymous SNV S109S 0.114 0.133 0.153 52 134 51 0.133 45 9 3 6 4 4.195 43665 chr3 119263680 119263680 C T rs2228017 CD80 Synonymous SNV V45V 0.261 0.276 0.303 95 307 106 0.244 89 47 12 14 15 9.173 43666 chr6 76576290 76576290 C T rs11756446 MYO6 Synonymous SNV D574D 0.06 0.07 0.071 17 70 27 0.044 21 2 0 0 1 Benign/Likely benign 13.04 43667 chr2 61258816 61258816 G A rs147707348 PEX13 Nonsynonymous SNV V119I 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.22 43668 chr6 76640781 76640781 C T rs3734313 IMPG1 Nonsynonymous SNV R633H 0.139 0.156 0.153 48 163 60 0.123 45 17 2 1 3 21.4 43669 chr3 130128232 130128232 G A rs77968090 COL6A5 Synonymous SNV P1514P 0.056 0.068 0.075 17 66 26 0.044 22 2 1 1 0 0.059 43670 chr3 130129322 130129322 G C rs35886424 COL6A5 Nonsynonymous SNV S1539T 0.15 0.148 0.173 60 176 57 0.154 51 16 7 2 6 10.2 43671 chr2 55119664 55119664 C T rs371237861 EML6 Synonymous SNV Y871Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 43672 chr6 7727271 7727271 G A rs111588693 BMP6 Nonsynonymous SNV R28Q 0.066 0.07 0.218 23 78 27 0.059 64 31 12 19 9 16.33 43673 chr3 130150310 130150310 A C rs61744488 COL6A5 Nonsynonymous SNV E1750D 0.06 0.07 0.085 17 70 27 0.044 25 2 1 1 0 0.002 43674 chr6 7899864 7899864 C T rs199917640 TXNDC5 Nonsynonymous SNV R47Q 0 0 0.007 0 0 0 0 2 0 0 1 0 35 43675 chr2 61483548 61483548 A T rs72811482 USP34 Nonsynonymous SNV H2064Q 0.046 0.052 0.034 18 54 20 0.046 10 2 0 0 0 3.271 43676 chr6 79727209 79727209 C T PHIP Synonymous SNV E362E 0 0 0.007 0 0 0 0 2 0 0 0 0 15.06 43677 chr6 80020537 80020537 T C rs4706769 LCAL1 0 0 0.524 0 0 0 0 154 0 0 46 0 2.05 43678 chr6 80020719 80020719 C T rs11752580 LCAL1 0 0 0.109 0 0 0 0 32 0 0 2 0 1.675 43679 chr3 130282383 130282383 C A rs114511272 COL6A6 Nonsynonymous SNV T179K 0.031 0.021 0.031 14 36 8 0.036 9 2 0 0 0 34 43680 chr6 80513565 80513565 - CTCTCTGATATGCCATC rs149560703 LINC01621 0 0 0.344 0 0 0 0 101 0 0 15 0 43681 chr6 82461520 82461520 A G rs3186631 TENT5A Synonymous SNV I113I 0.105 0.122 0.126 55 123 47 0.141 37 7 6 0 7 0.119 43682 chr2 62998485 62998485 G A rs75835972 EHBP1 Synonymous SNV A90A 0.037 0.039 0.024 13 44 15 0.033 7 1 0 0 0 14.56 43683 chr3 130289981 130289981 G A COL6A6 Synonymous SNV L907L 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 8.804 43684 chr6 82900811 82900811 G A rs9449444 IBTK Nonsynonymous SNV A1170V 0.165 0.148 0.218 66 194 57 0.169 64 18 3 6 8 9.724 43685 chr3 130360527 130360527 C T rs61629992 COL6A6 Nonsynonymous SNV S1708F 0.085 0.115 0.088 32 100 44 0.082 26 3 3 1 2 24 43686 chr6 82933309 82933309 C T rs9361904 IBTK Synonymous SNV K324K 0.184 0.18 0.221 73 216 69 0.187 65 17 3 6 8 15.07 43687 chr3 130449222 130449222 A G rs2170990 PIK3R4 Synonymous SNV L505L 0.246 0.266 0.245 104 289 102 0.267 72 35 13 11 13 8.845 43688 chr6 8413890 8413890 A G rs3757099 SLC35B3 Synonymous SNV L303L 0.174 0.203 0.248 83 204 78 0.213 73 24 6 14 8 9.499 43689 chr3 131624120 131624120 C G rs3749263 CPNE4 Synonymous SNV G74G 0.086 0.083 0.139 37 101 32 0.095 41 3 2 0 3 9.239 43690 chr6 84563147 84563147 G A rs9353143 RIPPLY2 Synonymous SNV A4A 0.071 0.07 0.095 18 83 27 0.046 28 1 1 1 0 14.87 43691 chr6 84799059 84799059 C T rs9449776 MRAP2 Synonymous SNV N73N 0.098 0.086 0.078 26 115 33 0.067 23 5 1 1 0 12.53 43692 chr3 132166266 132166266 T G rs11917172 DNAJC13 Synonymous SNV T82T 0.146 0.12 0.133 77 171 46 0.197 39 16 6 5 4 9.102 43693 chr6 84799185 84799185 C T rs2875382 MRAP2 Synonymous SNV H115H 0.232 0.203 0.224 67 272 78 0.172 66 26 5 9 3 6.579 43694 chr6 84903394 84903394 C G rs16874323 CEP162 Nonsynonymous SNV E272Q 0 0 0.007 3 0 0 0.008 2 0 0 0 0 28.6 43695 chr6 84922743 84922743 C T rs770796268 CEP162 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 43696 chr3 132226100 132226100 A G rs79953286 DNAJC13 Nonsynonymous SNV Y1673C 0.09 0.07 0.065 41 106 27 0.105 19 7 1 0 2 22.5 43697 chr3 121396144 121396144 T C rs148944271 GOLGB1 Synonymous SNV Q2929Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.054 43698 chr3 132277866 132277866 G A rs2270801 ACAD11 Synonymous SNV I764I 0.134 0.107 0.116 67 157 41 0.172 34 14 4 3 5 6.935 43699 chr14 65209867 65209867 C T rs229649 PLEKHG3 Nonsynonymous SNV R1036W 0.074 0.083 0.065 31 87 32 0.079 19 4 1 0 2 26.8 43700 chr15 49917618 49917618 C T rs142654959 DTWD1 Nonsynonymous SNV P85L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 32 43701 chr3 133119173 133119173 T C rs145934653 BFSP2 Synonymous SNV S82S 0.01 0.005 0.017 2 12 2 0.005 5 0 0 0 0 Benign 3.142 43702 chr3 121416445 121416445 T A rs141877497 GOLGB1 Synonymous SNV G895G 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.007 43703 chr6 88108049 88108051 GAT - rs368228855 LINC01590 0 0 0.772 0 0 0 0 227 0 0 88 0 43704 chr6 88109304 88109304 G A rs1051550 LINC01590 0 0 0.769 0 0 0 0 226 0 0 88 0 2.65 43705 chr3 113955187 113955187 A C rs3732781 ZNF80 Stop gain Y245X 0.302 0.297 0.299 118 355 114 0.303 88 51 18 16 17 24.6 43706 chr3 133341988 133341988 T C rs10935070 TOPBP1 Nonsynonymous SNV N1037S 0.35 0.31 0.313 120 411 119 0.308 92 74 19 16 14 0.001 43707 chr2 68765135 68765137 AAG - rs139666972 APLF R313del 0.052 0.042 0.024 16 61 16 0.041 7 2 0 0 0 43708 chr2 26534244 26534244 C T rs150925353 ADGRF3 Synonymous SNV A585A 0.013 0.023 0.017 5 15 9 0.013 5 0 1 0 0 15.28 43709 chr3 121563355 121563355 T C rs9884018 EAF2 Synonymous SNV G54G 0.152 0.188 0.119 62 178 72 0.159 35 17 9 2 4 3.015 43710 chr2 63833141 63833141 C T rs774885809 MDH1 Synonymous SNV Y197Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.84 43711 chr3 133475722 133475722 C T rs1799852 TF Synonymous SNV L120L 0.12 0.133 0.126 50 141 51 0.128 37 0 2 6 2 Benign 14.43 43712 chr2 26537324 26537324 G C rs149482937 ADGRF3 Nonsynonymous SNV L165V 0.008 0.021 0.017 2 9 8 0.005 5 0 0 0 0 6.702 43713 chr2 69736561 69736561 A G rs56038532 AAK1 Nonsynonymous SNV V603A 0.038 0.026 0.058 16 45 10 0.041 17 0 0 0 0 15.48 43714 chr14 66209075 66209075 C G FUT8 Nonsynonymous SNV R396G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 20.7 43715 chr2 26676395 26676395 G T rs12623642 DRC1 Nonsynonymous SNV V633F 0.052 0.049 0.014 23 61 19 0.059 4 1 0 0 2 Benign 33 43716 chr3 121187172 121187172 T C rs370703139 POLQ Synonymous SNV K2275K 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 3.154 43717 chr6 90408742 90408742 C T rs12530146 MDN1 Nonsynonymous SNV E3004K 0.026 0.039 0.078 9 31 15 0.023 23 1 0 2 1 24.6 43718 chr3 134225969 134225969 T C rs9827878 CEP63 Synonymous SNV C21C 0.157 0.154 0.122 47 184 59 0.121 36 18 3 4 4 Benign 4.634 43719 chr3 134323001 134323001 G T rs773709614 KY Nonsynonymous SNV P453H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.9 43720 chr2 71036961 71036961 A G rs150339964 CLEC4F Nonsynonymous SNV V523A 0.006 0 0 0 7 0 0 0 0 0 0 0 0.001 43721 chr3 134323002 134323002 G T rs763374229 KY Nonsynonymous SNV P453T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 2.052 43722 chr15 52510796 52510796 A G rs199975206 MYO5C Synonymous SNV L1292L 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 0.567 43723 chr2 68873214 68873214 G C rs372842241 PROKR1 Synonymous SNV L87L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.739 43724 chr15 52521383 52521383 C T rs62623565 MYO5C Nonsynonymous SNV V1052I 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 0.251 43725 chr3 121377156 121377156 G A rs34065758 HCLS1 Synonymous SNV S13S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.79 43726 chr3 135721036 135721036 C T rs34629706 PPP2R3A Synonymous SNV C232C 0.066 0.052 0.065 20 78 20 0.051 19 3 1 0 0 2.248 43727 chr15 52536596 52536596 C T rs55712142 MYO5C Nonsynonymous SNV A783T 0.009 0.013 0.007 1 11 5 0.003 2 0 0 0 0 25.7 43728 chr3 121414066 121414066 T C rs898929783 GOLGB1 Nonsynonymous SNV I1688M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.29 43729 chr6 94067981 94067981 C T rs164544 EPHA7 Synonymous SNV A327A 0.532 0.495 0.497 191 625 190 0.49 146 169 52 37 49 18.18 43730 chr3 122419292 122419292 A G rs7632072 PARP14 Nonsynonymous SNV T631A 0.061 0.049 0.065 21 72 19 0.054 19 3 1 0 2 0.074 43731 chr15 52664408 52664408 G A rs11637651 MYO5A Synonymous SNV I910I 0.083 0.081 0.085 28 98 31 0.072 25 5 1 0 1 Benign 15.28 43732 chr3 122459290 122459290 - AGA rs16338 HSPBAP1 P428_Q429insS 0.146 0.135 0.19 48 171 52 0.123 56 16 5 7 3 43733 chr14 69697289 69697289 G A rs35010854 EXD2 Nonsynonymous SNV D106N 0.02 0.036 0.01 22 23 14 0.056 3 0 1 0 0 24.7 43734 chr6 97052754 97052754 C T rs2064947 FHL5 Synonymous SNV N96N 0.209 0.237 0.214 72 245 91 0.185 63 23 9 11 5 12.25 43735 chr6 97058567 97058567 A G rs2273622 FHL5 Synonymous SNV P208P 0.207 0.237 0.214 71 243 91 0.182 63 23 9 11 4 10.69 43736 chr3 121527826 121527826 A G rs11926958 IQCB1 Nonsynonymous SNV F142L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 27.7 43737 chr2 70529037 70529037 T G rs188034845 FAM136A Nonsynonymous SNV N36T 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 9.684 43738 chr3 121591607 121591607 C G rs139363943 EAF2 Nonsynonymous SNV D106E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.825 43739 chr3 119367043 119367043 A G rs138545017 POPDC2 Nonsynonymous SNV M358T 0.008 0 0.01 5 9 0 0.013 3 0 0 0 0 16.48 43740 chr3 122645277 122645277 C T rs2276777 SEMA5B Synonymous SNV P308P 0.119 0.112 0.082 53 140 43 0.136 24 7 5 0 8 12.61 43741 chr3 121712298 121712298 C T rs35906279 ILDR1 Nonsynonymous SNV R344Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 15.8 43742 chr3 120347374 120347374 T G rs137923025 HGD Synonymous SNV A397A 0.052 0.052 0.037 29 61 20 0.074 11 2 0 0 0 Benign 12.84 43743 chr3 112066562 112066562 G A rs1050572 CD200 Synonymous SNV T119T 0.118 0.112 0.095 49 139 43 0.126 28 8 5 2 2 8.833 43744 chr3 120369683 120369683 G A rs140977117 HGD Synonymous SNV D124D 0.049 0.049 0.027 29 57 19 0.074 8 2 0 0 0 Benign 10.14 43745 chr6 99883694 99883694 T C rs9402791 USP45 Synonymous SNV A723A 0.203 0.201 0.177 67 238 77 0.172 52 31 7 6 6 9.324 43746 chr14 71435815 71435815 A G PCNX1 Nonsynonymous SNV S198G 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 15.95 43747 chr3 137960655 137960655 A G ARMC8 Nonsynonymous SNV K217E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.23 43748 chr3 138191232 138191232 G A rs10935282 ESYT3 Nonsynonymous SNV G590R 0.403 0.378 0.35 140 473 145 0.359 103 101 26 21 27 23.6 43749 chr7 100014711 100014711 T C rs6465770 ZCWPW1 Nonsynonymous SNV T153A 0.082 0.055 0.061 16 96 21 0.041 18 2 0 1 0 5.804 43750 chr3 124181454 124181454 C T rs2289839 KALRN Synonymous SNV I1283I 0.066 0.073 0.044 29 77 28 0.074 13 0 0 0 0 16.54 43751 chr2 71886100 71886100 G A rs62145939 DYSF Synonymous SNV E1563E 0.033 0.039 0.037 13 39 15 0.033 11 0 0 1 0 Conflicting interpretations of pathogenicity 11.48 43752 chr15 55838752 55838752 T C PYGO1 Synonymous SNV Q243Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.013 43753 chr3 122354895 122354895 T C rs146493543 PARP15 Nonsynonymous SNV V359A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 43754 chr2 73145011 73145013 GGC - EMX1 A13del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 43755 chr3 122418877 122418877 G A rs144051474 PARP14 Synonymous SNV T492T 0.006 0.008 0.007 7 7 3 0.018 2 0 0 0 0 4.526 43756 chr3 121410896 121410896 C T rs150108711 GOLGB1 Nonsynonymous SNV A2359T 0.004 0 0 0 5 0 0 0 0 0 0 0 9.591 43757 chr3 140785175 140785175 C A rs890529 SPSB4 Synonymous SNV R77R 0.252 0.229 0.279 95 296 88 0.244 82 43 12 13 15 20.9 43758 chr3 121413637 121413637 G A rs34833153 GOLGB1 Synonymous SNV S1831S 0.096 0.096 0.082 35 113 37 0.09 24 7 2 0 3 6.153 43759 chr3 141497150 141497150 C T rs1533501 GRK7 Synonymous SNV D8D 0.04 0.031 0.031 20 47 12 0.051 9 1 0 0 0 13.28 43760 chr2 73457287 73457287 C T rs146563500 PRADC1 Nonsynonymous SNV R41Q 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 23 43761 chr14 73731012 73731012 C T rs151179834 PAPLN Synonymous SNV R985R 0.037 0.057 0.024 17 44 22 0.044 7 1 1 0 0 11.26 43762 chr15 56243766 56243766 C T rs61732704 NEDD4 Synonymous SNV T47T 0.034 0.023 0 17 40 9 0.044 0 3 2 0 1 15.49 43763 chr3 141497506 141497506 G C rs35318124 GRK7 Nonsynonymous SNV S127T 0.019 0.01 0.003 6 22 4 0.015 1 0 0 0 0 0.99 43764 chr2 27805240 27805240 G A C2orf16 Nonsynonymous SNV R1934H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 43765 chr3 122634665 122634665 G C rs34037493 SEMA5B Nonsynonymous SNV D529E 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 19.2 43766 chr3 141535558 141535558 A G rs36009541 GRK7 Nonsynonymous SNV E443G 0.118 0.167 0.153 56 138 64 0.144 45 7 6 4 5 12.66 43767 chr14 73759533 73759533 T C rs778303007 NUMB Nonsynonymous SNV D109G 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 28.2 43768 chr14 73961982 73961982 C T rs76429074 HEATR4 Nonsynonymous SNV G912E 0.011 0.013 0.02 18 13 5 0.046 6 0 0 0 1 0.007 43769 chr3 141535608 141535608 C A rs33928105 GRK7 Nonsynonymous SNV P460T 0.118 0.167 0.153 56 139 64 0.144 45 7 6 4 5 18.97 43770 chr2 74688899 74688899 C T rs114933392 MOGS Nonsynonymous SNV V673I 0.031 0.013 0.02 8 36 5 0.021 6 0 0 0 0 Benign 9.671 43771 chr3 125725269 125725272 AACA - rs111477552 SLC41A3 Stop gain L465* 0.216 0.219 0.265 120 254 84 0.308 78 27 8 7 19 43772 chr2 74692191 74692191 C T rs79181168 MOGS Nonsynonymous SNV V62M 0.073 0.042 0.061 28 86 16 0.072 18 2 1 0 0 Benign/Likely benign 2.719 43773 chr3 1424745 1424745 C T rs4684146 CNTN6 Synonymous SNV V658V 0.18 0.161 0.231 75 211 62 0.192 68 18 5 9 5 11.17 43774 chr3 142681249 142681249 G A rs62276870 PAQR9 Synonymous SNV S310S 0.096 0.096 0.082 30 113 37 0.077 24 3 4 0 1 2.985 43775 chr2 74763247 74763247 C T rs77706750 LOXL3 Nonsynonymous SNV R14H 0.023 0.01 0.024 15 27 4 0.038 7 1 0 0 0 Benign 25 43776 chr3 123946895 123946895 G A rs2293641 KALRN Synonymous SNV K42K 0.038 0.036 0.037 13 45 14 0.033 11 0 0 1 0 11.42 43777 chr3 125826059 125826059 T C rs1127717 ALDH1L1 Nonsynonymous SNV D692G 0.216 0.216 0.259 113 254 83 0.29 76 25 8 8 15 20.3 43778 chr3 142681813 142681813 C T rs9844480 PAQR9 Synonymous SNV L122L 0.017 0.016 0.007 9 20 6 0.023 2 0 0 0 1 12.52 43779 chr14 74428000 74428000 A T rs2074930 COQ6 Nonsynonymous SNV D339V 0.02 0.029 0.044 13 24 11 0.033 13 0 1 1 0 Benign 24.2 43780 chr2 72362449 72362449 C T rs201533354 CYP26B1 Nonsynonymous SNV E102K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 43781 chr3 125854409 125854409 T C rs2276724 ALDH1L1 Nonsynonymous SNV S380G 0.173 0.172 0.173 69 203 66 0.177 51 22 3 6 5 17.89 43782 chr3 124114068 124114068 G A rs9841322 KALRN Synonymous SNV K681K 0.149 0.159 0.139 54 175 61 0.138 41 10 6 1 1 11.3 43783 chr2 29294069 29294069 T C rs200367963 PCARE Nonsynonymous SNV Q1020R 0.01 0.016 0.007 3 12 6 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.087 43784 chr3 125872384 125872384 A G rs3796191 ALDH1L1 Nonsynonymous SNV L153P 0.036 0.036 0.041 14 42 14 0.036 12 1 1 0 0 19.75 43785 chr2 75720372 75720372 C T rs11126472 EVA1A Nonsynonymous SNV R150H 0.079 0.076 0.058 35 93 29 0.09 17 4 2 0 2 29.5 43786 chr2 29294070 29294070 G T rs201355503 PCARE Nonsynonymous SNV Q1020K 0.01 0.016 0.007 3 12 6 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.71 43787 chr2 75720569 75720577 GCTGTCGCT - rs148155576 EVA1A S82_S84del 0.079 0.078 0.075 35 93 30 0.09 22 4 2 0 2 43788 chr2 74274329 74274329 C T rs61741171 TET3 Nonsynonymous SNV P336S 0.076 0.057 0.082 23 89 22 0.059 24 7 1 0 0 10.95 43789 chr3 148459884 148459884 A G rs5183 AGTR1 Synonymous SNV P354P 0.054 0.047 0.044 18 63 18 0.046 13 0 0 0 0 Benign 0.003 43790 chr3 1262474 1262474 T C rs2013828 CNTN6 Synonymous SNV N53N 0.376 0.349 0.35 118 441 134 0.303 103 79 22 19 11 0.655 43791 chr3 126260621 126260621 C G rs780867298 CHST13 Nonsynonymous SNV L76V 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 9.442 43792 chr2 74542089 74542091 CTC - rs141087445 SLC4A5 R21del 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 43793 chr7 100550282 100550282 C T rs71540915 MUC3A Nonsynonymous SNV P288L 0.331 0.289 0.33 129 389 111 0.331 97 0 0 0 0 0.081 43794 chr15 62209719 62209719 G A VPS13C Stop gain Q2583X 0 0 0 0 0 0 0 0 0 0 0 0 46 43795 chr2 29543736 29543736 A G rs35093491 ALK Nonsynonymous SNV V476A 0.032 0.049 0.034 14 38 19 0.036 10 0 1 0 0 Benign/Likely benign 2.178 43796 chr15 62212770 62212770 T C rs139993005 VPS13C Nonsynonymous SNV H2337R 0.005 0.01 0.01 1 6 4 0.003 3 0 0 0 0 Benign 9.482 43797 chr7 100550285 100550285 C T rs78054189 MUC3A Nonsynonymous SNV T289I 0.283 0.229 0.136 104 332 88 0.267 40 0 0 0 0 13.14 43798 chr7 100550286 100550286 T G rs370230558 MUC3A Synonymous SNV T289T 0.205 0.159 0.146 76 241 61 0.195 43 0 0 0 0 2.567 43799 chr7 100550289 100550289 G T rs71540916 MUC3A Nonsynonymous SNV R290S 0.336 0.302 0.33 131 394 116 0.336 97 0 0 0 0 0.001 43800 chr2 74699595 74699595 G T rs78834087 MRPL53 Nonsynonymous SNV T32N 0.009 0.01 0 6 10 4 0.015 0 0 0 0 0 6.732 43801 chr3 149238595 149238595 - TTAA rs112399999 WWTR1 Stop gain L400_X401delinsLX 0.072 0.076 0.092 31 85 29 0.079 27 3 2 1 2 43802 chr7 100550291 100550291 C A rs71540917 MUC3A Nonsynonymous SNV T291N 0.184 0.146 0.136 71 216 56 0.182 40 0 0 0 0 0.025 43803 chr3 14939471 14939471 G A rs67571220 FGD5 Nonsynonymous SNV V979I 0.037 0.034 0.048 14 44 13 0.036 14 0 0 0 0 0.097 43804 chr2 74701836 74701836 G A rs116238920 CCDC142 Nonsynonymous SNV P697L 0.009 0.01 0 6 11 4 0.015 0 0 0 0 0 0.001 43805 chr7 100550316 100550316 G A rs78759433 MUC3A Synonymous SNV L299L 0.333 0.31 0.214 120 391 119 0.308 63 0 0 0 0 5.277 43806 chr3 125775224 125775224 C T rs142698355 SLC41A3 Nonsynonymous SNV G58S 0.003 0.016 0.003 2 3 6 0.005 1 0 0 0 0 19.19 43807 chr7 100550330 100550330 T C rs71540919 MUC3A Nonsynonymous SNV I304T 0.199 0.159 0.122 71 234 61 0.182 36 0 0 0 0 1.2 43808 chr3 128363762 128363762 C T RPN1 Nonsynonymous SNV S109N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 22 43809 chr2 74900588 74900588 G T rs34617503 SEMA4F Synonymous SNV G152G 0.07 0.07 0.085 26 82 27 0.067 25 2 2 4 0 2.453 43810 chr7 100550347 100550347 A G rs74218792 MUC3A Nonsynonymous SNV N310D 0.094 0.073 0.078 47 110 28 0.121 23 0 0 0 0 0.154 43811 chr7 100550354 100550354 C A rs74220905 MUC3A Nonsynonymous SNV T312N 0.132 0.117 0.133 60 155 45 0.154 39 0 0 0 0 7.164 43812 chr2 85598627 85598627 C T rs115378987 ELMOD3 Synonymous SNV T183T 0.073 0.065 0.044 29 86 25 0.074 13 3 2 0 1 Benign/Likely benign 16.95 43813 chr3 121208704 121208706 TTT - rs41547220 POLQ K1025del 0.014 0.023 0.014 3 17 9 0.008 4 0 0 1 0 43814 chr7 100550428 100550428 C A rs4729627 MUC3A Nonsynonymous SNV P337T 0.195 0.146 0.207 80 229 56 0.205 61 0 0 0 0 6.823 43815 chr15 63569902 63569902 C T rs117618017 APH1B Nonsynonymous SNV T27I 0.103 0.154 0.095 35 121 59 0.09 28 10 5 2 0 7.969 43816 chr7 100550431 100550431 A G rs74202479 MUC3A Nonsynonymous SNV T338A 0.018 0.003 0.017 4 21 1 0.01 5 0 0 0 0 6.141 43817 chr2 79348791 79348791 C T rs142877017 REG1A Synonymous SNV T56T 0.014 0.01 0.007 5 16 4 0.013 2 0 0 0 0 12.57 43818 chr3 126194465 126194465 G A rs376783171 ZXDC Nonsynonymous SNV P82S 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 1.804 43819 chr3 151161112 151161112 A G rs12487205 IGSF10 Nonsynonymous SNV Y1875H 0.068 0.081 0.092 26 80 31 0.067 27 4 2 2 2 2.942 43820 chr3 124646515 124646515 T A rs145010235 MUC13 Synonymous SNV P125P 0.074 0.076 0.037 21 87 29 0.054 11 7 1 1 0 0.126 43821 chr7 100550485 100550485 A G MUC3A Nonsynonymous SNV S356G 0.024 0.005 0.014 4 28 2 0.01 4 0 0 0 0 3.298 43822 chr3 151166058 151166058 G A rs17204557 IGSF10 Nonsynonymous SNV P571S 0.069 0.081 0.092 24 81 31 0.062 27 4 2 2 2 0.008 43823 chr7 100550486 100550486 G T MUC3A Nonsynonymous SNV S356I 0.023 0.003 0.017 2 27 1 0.005 5 0 0 0 0 1.385 43824 chr3 128663955 128663955 G A rs7619327 KIAA1257 Synonymous SNV A448A 0.103 0.12 0.105 26 121 46 0.067 31 5 3 1 1 8.298 43825 chr2 3605978 3605978 A G rs28384453 RNASEH1-AS1 0.025 0.036 0.065 5 29 14 0.013 19 2 1 0 0 Likely benign 4.506 43826 chr7 100550488 100550488 A T MUC3A Nonsynonymous SNV M357L 0.02 0 0.01 4 23 0 0.01 3 0 0 0 0 0.39 43827 chr3 128664654 128664654 G T rs9289336 KIAA1257 Synonymous SNV P215P 0.101 0.125 0.105 23 119 48 0.059 31 5 3 1 1 0.161 43828 chr7 100551106 100551106 A G rs62483697 MUC3A Nonsynonymous SNV K563E 0.112 0.068 0.109 43 131 26 0.11 32 3 1 1 2 0.041 43829 chr7 100551180 100551180 C T rs10248095 MUC3A Synonymous SNV P587P 0.414 0.357 0.418 176 486 137 0.451 123 92 25 27 44 3.576 43830 chr3 124739815 124739815 C A HEG1 Nonsynonymous SNV G358V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 15.22 43831 chr2 85892908 85892908 C T rs35373464 SFTPB Nonsynonymous SNV G135S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.3 43832 chr3 152018102 152018102 G A rs74497536 MBNL1 Synonymous SNV S40S 0.036 0.029 0.01 10 42 11 0.026 3 0 0 0 0 6.867 43833 chr3 15259992 15259992 G A rs35247476 CAPN7 Nonsynonymous SNV A128T 0.074 0.065 0.065 17 87 25 0.044 19 3 2 1 0 21.4 43834 chr3 128976396 128976396 T C rs4927910 COPG1 Synonymous SNV H221H 0.116 0.13 0.143 45 136 50 0.115 42 10 2 2 3 0.011 43835 chr3 128976451 128976451 C G rs62266876 COPG1 Nonsynonymous SNV L240V 0.099 0.112 0.109 44 116 43 0.113 32 7 2 0 3 21.5 43836 chr3 128990998 128990998 T C rs6771809 MIR6826 0.145 0.148 0.17 54 170 57 0.138 50 16 3 5 4 2.605 43837 chr3 129267910 129267910 G A rs61737314 H1-8 Nonsynonymous SNV A10T 0.061 0.083 0.095 41 72 32 0.105 28 4 1 0 4 0.02 43838 chr2 85769312 85769312 T C MAT2A Nonsynonymous SNV V195A 0.004 0 0 0 5 0 0 0 0 0 0 0 15.72 43839 chr3 129289752 129289752 C T rs2285365 PLXND1 Synonymous SNV Q1209Q 0.076 0.063 0.051 29 89 24 0.074 15 3 0 0 1 13.35 43840 chr14 78288804 78288804 C T rs773173759 ADCK1 Synonymous SNV L54L 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 13.63 43841 chr3 129291499 129291499 G A rs2285368 PLXND1 Synonymous SNV S1010S 0.075 0.063 0.051 30 88 24 0.077 15 3 0 0 1 9.469 43842 chr14 78353478 78353478 G T rs35636358 ADCK1 Synonymous SNV T88T 0.025 0.034 0.031 9 29 13 0.023 9 0 0 1 0 8.383 43843 chr3 15476011 15476011 C G rs1563415 EAF1 Synonymous SNV P164P 0.183 0.174 0.153 82 215 67 0.21 45 19 10 6 6 15.6 43844 chr3 125032366 125032366 C G rs141167020 ZNF148 Nonsynonymous SNV G40A 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 Likely benign 7.035 43845 chr3 129297243 129297243 G A rs137955512 PLXND1 Nonsynonymous SNV P759S 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 Benign 0.119 43846 chr14 81610014 81610014 G A rs151264748 TSHR Nonsynonymous SNV A538T 0.001 0.01 0 4 1 4 0.01 0 0 0 0 0 25.5 43847 chr3 129302455 129302455 G A rs2285370 PLXND1 Synonymous SNV S732S 0.073 0.063 0.044 29 86 24 0.074 13 3 0 0 1 10.37 43848 chr3 129303072 129303072 G A rs2285371 PLXND1 Synonymous SNV H678H 0.073 0.063 0.044 28 86 24 0.072 13 3 0 0 1 4.024 43849 chr3 15637914 15637914 G A rs74506826 HACL1 Synonymous SNV S68S 0.063 0.039 0.031 27 74 15 0.069 9 2 0 0 1 13.2 43850 chr3 129304797 129304797 G A rs2285372 PLXND1 Nonsynonymous SNV P617S 0.073 0.063 0.044 28 86 24 0.072 13 3 0 0 1 0.264 43851 chr3 156877707 156877707 A T rs9814142 CCNL1 Synonymous SNV I59I 0.038 0.029 0.003 10 45 11 0.026 1 0 0 0 0 0.107 43852 chr14 81728194 81728194 C A rs17111619 STON2 Nonsynonymous SNV V899L 0.025 0.036 0.01 16 29 14 0.041 3 0 0 0 1 8.15 43853 chr3 129305460 129305460 C T rs2301572 PLXND1 Nonsynonymous SNV G531S 0.074 0.063 0.044 28 87 24 0.072 13 3 0 0 1 10.29 43854 chr2 87017575 87017575 C T rs2229240 CD8A Synonymous SNV R93R 0.091 0.063 0.031 35 107 24 0.09 9 7 1 0 1 Benign 12.33 43855 chr2 87017662 87017662 G T rs2229239 CD8A Synonymous SNV A64A 0.091 0.065 0.031 35 107 25 0.09 9 7 1 0 1 Benign 11.22 43856 chr3 130107975 130107975 A G rs16827168 COL6A5 Nonsynonymous SNV H805R 0.009 0.013 0.01 5 10 5 0.013 3 0 0 0 0 6.641 43857 chr7 100552017 100552017 C T rs9691167 MUC3A Synonymous SNV F866F 0.336 0.289 0.327 132 394 111 0.338 96 0 0 0 0 8.68 43858 chr3 122545668 122545668 G T rs781680762 SLC49A4 Nonsynonymous SNV M153I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.41 43859 chr3 158388795 158388795 C T rs115108034 LXN Nonsynonymous SNV R48K 0.014 0.018 0.01 7 16 7 0.018 3 0 0 0 0 Benign 12.76 43860 chr3 126214943 126214943 A G rs62264732 UROC1 Nonsynonymous SNV S483P 0.013 0.003 0.007 2 15 1 0.005 2 0 0 0 0 23.1 43861 chr3 158450002 158450002 T C rs190970900 RARRES1 Nonsynonymous SNV H68R 0.009 0.008 0.003 4 11 3 0.01 1 1 0 0 0 24.1 43862 chr15 67757539 67757539 C T rs112419712 IQCH Synonymous SNV N453N 0.02 0.01 0.031 7 23 4 0.018 9 0 0 0 0 7.936 43863 chr14 88450770 88450770 G A rs1805078 GALC Nonsynonymous SNV R161C 0.042 0.055 0.031 12 49 21 0.031 9 1 1 0 0 Benign, other 28 43864 chr3 161064110 161064113 ATGG - rs939522659 SPTSSB Star tloss M1? 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 43865 chr3 16217110 16217110 C T rs11715981 GALNT15 Nonsynonymous SNV P151L 0.032 0.034 0.024 11 37 13 0.028 7 0 0 0 0 6.442 43866 chr3 123357037 123357037 A G rs820463 MYLK Synonymous SNV N1438N 0.157 0.151 0.126 51 184 58 0.131 37 18 6 2 3 Benign 2.253 43867 chr3 123368013 123368013 A G rs1254392 MYLK Synonymous SNV D1263D 0.157 0.154 0.143 49 184 59 0.126 42 19 6 3 3 Benign 2.815 43868 chr2 9520874 9520874 C T rs11888409 ASAP2 Synonymous SNV N651N 0.012 0.005 0.007 6 14 2 0.015 2 0 0 1 0 14.13 43869 chr14 88946335 88946335 C T rs141720430 PTPN21 Synonymous SNV S480S 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 17.27 43870 chr14 89154654 89154654 C T rs118043831 EML5 Synonymous SNV A901A 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 17.41 43871 chr2 9533633 9533633 C T rs143886220 ASAP2 Synonymous SNV P802P 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.02 43872 chr2 9533774 9533774 G A rs6728908 ASAP2 Synonymous SNV P849P 0.012 0.005 0.007 6 14 2 0.015 2 0 0 1 0 5.155 43873 chr3 130361856 130361856 G A rs16830494 COL6A6 Nonsynonymous SNV R1739Q 0.095 0.083 0.126 36 111 32 0.092 37 3 2 3 3 23.2 43874 chr3 130368301 130368301 G A rs7636656 COL6A6 Synonymous SNV A1876A 0.104 0.089 0.136 38 122 34 0.097 40 5 2 3 3 7.621 43875 chr2 47251469 47251469 G C rs2304290 TTC7A Nonsynonymous SNV V184L 0.138 0.125 0.119 47 162 48 0.121 35 11 3 0 3 0.947 43876 chr3 131306391 131306391 A G rs141618109 CPNE4 Synonymous SNV H257H 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 6.214 43877 chr3 132166302 132166302 T G rs116489157 DNAJC13 Synonymous SNV L94L 0.008 0.016 0.01 4 9 6 0.01 3 0 1 0 0 9.688 43878 chr7 100552711 100552712 TC - rs764123091 MUC3A S1098Tfs*24 0.204 0.143 0.156 80 240 55 0.205 46 0 0 0 0 43879 chr7 100552714 100552714 - GT rs756000364 MUC3A Frameshift insertion R1100Afs*10 0.205 0.143 0.163 80 241 55 0.205 48 0 0 0 0 43880 chr3 167167186 167167186 T A rs6770577 SERPINI2 Synonymous SNV S323S 0.38 0.391 0.384 145 446 150 0.372 113 84 41 23 31 11.51 43881 chr2 48573875 48573875 A G rs35742253 FOXN2 Synonymous SNV E174E 0.017 0.029 0.024 2 20 11 0.005 7 0 0 0 0 Benign 0.872 43882 chr3 132441249 132441276 GGAACGGAACGGGACGGGGTGGGGCAGA - rs781381515 NPHP3-ACAD11 0.01 0.018 0.007 11 12 7 0.028 2 1 1 1 0 43883 chr3 167184878 167184878 T C rs9841174 SERPINI2 Nonsynonymous SNV E148G 0.396 0.404 0.401 144 465 155 0.369 118 86 41 24 29 22.6 43884 chr3 124515314 124515314 G A rs2291085 ITGB5 Synonymous SNV S385S 0.01 0.008 0.017 5 12 3 0.013 5 2 0 0 0 10.55 43885 chr3 129130018 129130018 G A rs73202271 EFCAB12 Nonsynonymous SNV R340W 0.112 0.125 0.16 33 131 48 0.085 47 5 3 3 2 26.3 43886 chr2 48681868 48681868 C G rs76587580 PPP1R21 Synonymous SNV G87G 0.042 0.034 0.051 24 49 13 0.062 15 1 0 1 0 12.59 43887 chr3 167189607 167189607 A C rs17246389 SERPINI2 Nonsynonymous SNV L6V 0.259 0.263 0.259 107 304 101 0.274 76 37 17 6 21 5.107 43888 chr3 124515395 124515395 G A rs2291086 ITGB5 Synonymous SNV N358N 0.01 0.008 0.017 5 12 3 0.013 5 2 0 0 0 10.22 43889 chr2 48809629 48809629 G T rs17397707 STON1, STON1-GTF2A1L Synonymous SNV V619V 0.035 0.047 0.048 19 41 18 0.049 14 0 1 1 0 4.744 43890 chr3 129140489 129140489 T C rs3774788 EFCAB12 Synonymous SNV T69T 0.122 0.148 0.194 37 143 57 0.095 57 5 4 7 3 0.016 43891 chr3 129152089 129152089 G A rs140696 MBD4 Synonymous SNV G153G 0.115 0.138 0.18 38 135 53 0.097 53 5 3 6 2 8.395 43892 chr3 167217964 167217964 A G rs13060964 WDR49 Nonsynonymous SNV L651P 0.353 0.346 0.364 133 414 133 0.341 107 75 34 21 28 6.066 43893 chr3 129155670 129155670 C T rs10342 MBD4 Nonsynonymous SNV A273T 0.112 0.12 0.156 33 131 46 0.085 46 5 3 3 2 7.685 43894 chr3 130284399 130284399 G A rs199714543 COL6A6 Nonsynonymous SNV R408Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 43895 chr3 168810874 168810874 C T rs17466625 MECOM Synonymous SNV S816S 0.152 0.135 0.136 54 178 52 0.138 40 17 2 2 1 12.62 43896 chr2 48896860 48896860 G T GTF2A1L, STON1-GTF2A1L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 43897 chr3 129269961 129269961 T C rs3736170 H1-8 Synonymous SNV G134G 0.02 0.023 0.014 10 23 9 0.026 4 0 0 0 0 0.008 43898 chr3 130285929 130285929 C T rs59021909 COL6A6 Nonsynonymous SNV P556S 0.019 0.026 0.031 14 22 10 0.036 9 1 0 0 1 25.8 43899 chr2 48896862 48896862 A G GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV D293G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 43900 chr2 99172243 99172243 C T rs41486345 INPP4A Synonymous SNV S598S 0.026 0.018 0.048 13 31 7 0.033 14 0 0 1 0 13.66 43901 chr2 99778735 99778735 A G rs3791211 LIPT1 Synonymous SNV T105T 0.038 0.031 0.02 23 45 12 0.059 6 0 0 0 0 Benign 0.006 43902 chr3 133494354 133494354 C T rs1049296 TF Nonsynonymous SNV P462S 0.18 0.159 0.224 76 211 61 0.195 66 15 5 6 4 Benign 0.03 43903 chr3 130992385 130992385 T C rs16836266 NEK11 Nonsynonymous SNV V421A 0.064 0.06 0.058 22 75 23 0.056 17 0 0 0 0 0.004 43904 chr3 169654216 169654216 G A rs9836170 SAMD7 Synonymous SNV P377P 0.09 0.068 0.082 37 106 26 0.095 24 6 1 3 2 8.348 43905 chr14 92488083 92488083 A G rs77981249 TRIP11 Synonymous SNV A134A 0.021 0.021 0.003 8 25 8 0.021 1 0 0 0 0 Benign 0.435 43906 chr3 170184933 170184933 C T rs111687384 SLC7A14 Synonymous SNV R742R 0.012 0.005 0.007 6 14 2 0.015 2 0 0 0 0 Benign 12.08 43907 chr3 131102053 131102053 A G rs11549806 NUDT16 Synonymous SNV V106V 0.038 0.029 0.054 8 45 11 0.021 16 0 0 0 0 22.7 43908 chr3 133524717 133524717 G C rs1107413 SRPRB Nonsynonymous SNV V9L 0.234 0.237 0.279 90 275 91 0.231 82 27 13 7 9 8.545 43909 chr15 73994806 73994806 C T rs7173448 CD276 Nonsynonymous SNV P97L 0.095 0.099 0.082 27 112 38 0.069 24 4 0 1 1 6.8 43910 chr14 92537378 92537378 - C rs775879957 ATXN3 Frameshift insertion T15Sfs*34 0.02 0.021 0 8 24 8 0.021 0 0 0 0 0 43911 chr14 92537379 92537379 - GCTGCTGCTGCTGCTGCTGCTGC rs760924707 ATXN3 Frameshift insertion T15Afs*73 0.014 0.016 0 8 17 6 0.021 0 0 0 0 0 43912 chr15 73994847 73994847 C A rs7173476 CD276 Nonsynonymous SNV R111S 0.096 0.099 0.082 28 113 38 0.072 24 4 0 1 2 22.8 43913 chr15 73995165 73995165 A C rs11574478 CD276 Synonymous SNV P11P 0.096 0.099 0.085 28 113 38 0.072 25 4 0 1 2 0.01 43914 chr15 73995173 73995173 C T rs11574479 CD276 Nonsynonymous SNV T14M 0.106 0.117 0.109 34 124 45 0.087 32 4 2 2 3 8.638 43915 chr3 129293316 129293316 C T rs199793511 PLXND1 Nonsynonymous SNV A850T 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 Benign 24.3 43916 chr3 170885002 170885002 T C rs753757935 TNIK Synonymous SNV R277R 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 5.976 43917 chr15 73996066 73996066 G A rs11574483 CD276 Nonsynonymous SNV R121H 0.096 0.099 0.075 28 113 38 0.072 22 4 0 1 2 22.1 43918 chr15 73996101 73996101 G A rs10083681 CD276 Nonsynonymous SNV A133T 0.096 0.099 0.082 28 113 38 0.072 24 4 0 1 2 17.08 43919 chr15 73996590 73996590 G A rs143255170 CD276 Synonymous SNV T164T 0.03 0.018 0.01 9 35 7 0.023 3 0 0 0 1 13.98 43920 chr3 173997153 173997153 G A rs7646919 NLGN1 Synonymous SNV K454K 0.206 0.203 0.18 88 242 78 0.226 53 29 9 7 8 9.902 43921 chr15 74000729 74000729 G C rs2291012 CD276 Synonymous SNV L255L 0.096 0.099 0.085 28 113 38 0.072 25 4 0 1 2 0.241 43922 chr3 174814738 174814738 G A rs9823911 NAALADL2 Nonsynonymous SNV G68S 0.341 0.313 0.337 121 400 120 0.31 99 64 13 14 19 3.819 43923 chr3 13395475 13395475 G C rs2280085 NUP210 Nonsynonymous SNV P821A 0.185 0.19 0.16 77 217 73 0.197 47 16 4 6 8 0.002 43924 chr15 74001993 74001993 T C rs11552770 CD276 Synonymous SNV A285A 0.096 0.099 0.085 28 113 38 0.072 25 4 0 1 2 8.853 43925 chr3 174814920 174814920 A G rs9836841 NAALADL2 Nonsynonymous SNV I128M 0.418 0.385 0.367 148 491 148 0.379 108 101 24 16 28 0.016 43926 chr15 74002006 74002006 G A rs3825859 CD276 Nonsynonymous SNV G290R 0.037 0.036 0.014 12 43 14 0.031 4 0 0 0 1 22.7 43927 chr3 125199103 125199103 A G rs35547631 SNX4 Synonymous SNV L238L 0.03 0.023 0.037 12 35 9 0.031 11 0 1 0 0 7.985 43928 chr2 55253464 55253464 A T rs199824937 RTN4 Nonsynonymous SNV Y385N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 43929 chr3 100559663 100559663 C A rs766527487 ABI3BP 0.003 0 0 0 4 0 0 0 0 0 0 0 10.54 43930 chr3 130095179 130095179 T C rs113396273 COL6A5 Nonsynonymous SNV M56T 0.022 0.016 0.007 12 26 6 0.031 2 1 0 0 0 0.476 43931 chr3 134256110 134256110 G C rs114108011 CEP63 Nonsynonymous SNV Q185H 0.011 0.016 0.003 3 13 6 0.008 1 0 0 0 0 Benign 24.6 43932 chr3 125826003 125826003 T C rs4646750 ALDH1L1 Nonsynonymous SNV I711V 0.075 0.078 0.078 24 88 30 0.062 23 1 0 2 0 11.37 43933 chr2 55436951 55436951 T G rs765608051 CLHC1 Nonsynonymous SNV E32D 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.025 43934 chr3 101540363 101540363 G A rs200120136 NXPE3 Synonymous SNV T346T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.116 43935 chr7 101892121 101892121 G A rs410825 CUX1 Synonymous SNV P1450P 0.302 0.263 0.418 108 355 101 0.277 123 102 33 29 29 9.57 43936 chr3 101572076 101572076 C A rs141771799 NFKBIZ Nonsynonymous SNV Q236K 0.006 0 0 1 7 0 0.003 0 0 0 0 0 25.5 43937 chr3 101378843 101378843 G C ZBTB11 Synonymous SNV A610A 0.003 0 0 0 4 0 0 0 0 0 0 0 11.33 43938 chr3 179322703 179322703 A C rs35399127 NDUFB5 Nonsynonymous SNV T34P 0.029 0.018 0.017 15 34 7 0.038 5 0 0 0 0 23.3 43939 chr15 75012985 75012985 T C rs1048943 CYP1A1 Nonsynonymous SNV I433V 0.048 0.042 0.078 9 56 16 0.023 23 1 0 1 0 21.9 43940 chr7 102065594 102065594 C G rs139631659 LOC100630923 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 4.581 43941 chr14 94394912 94394912 G A rs749797057 FAM181A Nonsynonymous SNV G94D 0 0.005 0 2 0 2 0.005 0 0 0 0 0 15.19 43942 chr3 133664067 133664067 G A rs146970901 SLCO2A1 Nonsynonymous SNV R445C 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Benign 26 43943 chr3 10183567 10183567 G C rs973493604 VHL Nonsynonymous SNV E12D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 6.507 43944 chr7 102065651 102065651 C T rs1047998 LOC100630923 0.104 0.115 0.276 42 122 44 0.108 81 38 11 9 10 6.857 43945 chr3 10183691 10183691 A T VHL Nonsynonymous SNV M54L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Likely pathogenic 10.1 43946 chr7 102111936 102111936 G A rs60871950 MIR4467 0 0 0.381 0 0 0 0 112 0 0 26 0 1.285 43947 chr7 1024625 1024625 G A CYP2W1 Nonsynonymous SNV R126H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 43948 chr7 102462636 102462636 T C rs10279449 FBXL13 Synonymous SNV A578A 0.336 0.359 0.384 144 395 138 0.369 113 68 25 22 21 6.931 43949 chr15 75146379 75146379 T A rs75280463 SCAMP2 Nonsynonymous SNV T70S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 9.904 43950 chr3 135721781 135721781 C G rs34901937 PPP2R3A Nonsynonymous SNV P481A 0.048 0.047 0.048 18 56 18 0.046 14 3 2 0 0 0.004 43951 chr7 102604045 102604045 C T rs75323828 FBXL13 Nonsynonymous SNV R220H 0.014 0.018 0.014 3 17 7 0.008 4 0 1 0 0 25 43952 chr3 10302045 10302045 C T rs2241313 TATDN2 Synonymous SNV S213S 0.101 0.12 0.139 28 118 46 0.072 41 4 3 0 2 12.94 43953 chr3 126207049 126207049 G A rs139120643 UROC1 Synonymous SNV G594G 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 16.56 43954 chr14 94754804 94754804 C T rs2232708 SERPINA10 Nonsynonymous SNV G271S 0.043 0.065 0.014 13 51 25 0.033 4 3 2 0 1 7.083 43955 chr7 102614137 102614137 C A rs6465886 NFE4 Nonsynonymous SNV A45D 0.18 0.203 0.204 60 211 78 0.154 60 22 11 8 6 8.957 43956 chr3 10302056 10302056 A G rs2241314 TATDN2 Nonsynonymous SNV H217R 0.102 0.122 0.139 29 120 47 0.074 41 4 3 0 2 0.001 43957 chr14 94756669 94756669 G A rs2232698 SERPINA10 Stop gain R88X 0.043 0.065 0.014 13 51 25 0.033 4 3 2 0 1 35 43958 chr3 182871996 182871996 G A rs114675283 LAMP3 Nonsynonymous SNV A78V 0.006 0 0 2 7 0 0.005 0 0 0 0 0 8.415 43959 chr3 105243204 105243204 T C rs150607806 ALCAM Synonymous SNV D82D 0.006 0 0 3 7 0 0.008 0 0 0 0 0 1.116 43960 chr7 102781932 102781932 T - rs71110820 RPL19P12 0 0 0.575 0 0 0 0 169 0 0 52 0 43961 chr7 102782033 102782033 G A rs796922975 RPL19P12 0 0 0.432 0 0 0 0 127 0 0 0 0 4.804 43962 chr7 102782043 102782043 A G rs796156969 RPL19P12 0 0 0.463 0 0 0 0 136 0 0 0 0 1.709 43963 chr7 102782044 102782044 T G rs796768480 RPL19P12 0 0 0.463 0 0 0 0 136 0 0 0 0 4.602 43964 chr7 102782051 102782051 A C rs796504519 RPL19P12 0 0 0.463 0 0 0 0 136 0 0 0 0 2.105 43965 chr7 102782077 102782078 GG - RPL19P12 0 0 0.486 0 0 0 0 143 0 0 0 0 43966 chr7 102782079 102782079 T A RPL19P12 0 0 0.49 0 0 0 0 144 0 0 0 0 1.916 43967 chr7 102782082 102782082 - CG RPL19P12 0 0 0.486 0 0 0 0 143 0 0 0 0 43968 chr7 102782144 102782144 C T rs796841515 RPL19P12 0 0 0.493 0 0 0 0 145 0 0 0 0 2.313 43969 chr7 102782145 102782145 C T rs796498524 RPL19P12 0 0 0.497 0 0 0 0 146 0 0 0 0 3.658 43970 chr7 102782159 102782159 C T RPL19P12 0 0 0.486 0 0 0 0 143 0 0 0 0 12.31 43971 chr7 102782162 102782162 A G rs878885934 RPL19P12 0 0 0.483 0 0 0 0 142 0 0 0 0 8.24 43972 chr7 103251161 103251161 G C rs362691 RELN Nonsynonymous SNV L997V 0.108 0.096 0.085 47 127 37 0.121 25 7 3 0 2 Benign/Likely benign 11.03 43973 chr3 108156428 108156428 T G rs148843085 MYH15 Nonsynonymous SNV Q1085P 0.007 0 0 3 8 0 0.008 0 0 0 0 0 23.4 43974 chr15 76017452 76017452 C T rs55905564 ODF3L1 Nonsynonymous SNV P41L 0.165 0.141 0.156 71 194 54 0.182 46 24 3 3 4 27.4 43975 chr3 131100658 131100658 G T rs566228366 NUDT16 Nonsynonymous SNV A4S 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 1.583 43976 chr3 136016845 136016845 G A rs150555106 PCCB Nonsynonymous SNV R272Q 0.006 0.018 0.01 6 7 7 0.015 3 0 0 0 0 Conflicting interpretations of pathogenicity 35 43977 chr3 136664737 136664737 C T rs13320485 NCK1 Nonsynonymous SNV A116V 0.026 0.016 0.037 14 31 6 0.036 11 2 0 0 0 19.28 43978 chr7 107427322 107427322 A C rs34407351 SLC26A3 Nonsynonymous SNV C307W 0.013 0.018 0.031 5 15 7 0.013 9 0 1 0 0 Benign 24.6 43979 chr3 108776303 108776303 C A rs114758544 MORC1 Synonymous SNV L354L 0.019 0.008 0.01 5 22 3 0.013 3 0 0 0 0 12.49 43980 chr3 132257069 132257069 G A rs138367039 DNAJC13 Nonsynonymous SNV M2225I 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 4.838 43981 chr7 107545484 107545484 A G rs767210810 DLD Nonsynonymous SNV H41R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.5 43982 chr3 137942265 137942265 A G rs146088572 ARMC8 Nonsynonymous SNV T35A 0.008 0.01 0.003 11 9 4 0.028 1 0 0 0 0 9.709 43983 chr3 109047928 109047928 C T rs1163439 DPPA4 Nonsynonymous SNV V131M 0.055 0.034 0.044 22 64 13 0.056 13 2 0 1 2 17.74 43984 chr3 132338346 132338346 T G rs41272321 ACAD11 Nonsynonymous SNV K414T 0.135 0.107 0.075 66 159 41 0.169 22 13 4 3 5 15.67 43985 chr15 77425631 77425631 C T rs769105846 PEAK1 Nonsynonymous SNV G1265S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.934 43986 chr15 77907139 77907139 C T rs61737308 LINGO1 Synonymous SNV P370P 0.009 0 0.017 3 10 0 0.008 5 0 0 0 0 Benign 8.485 43987 chr2 64685430 64685430 T C rs147305037 LGALSL Synonymous SNV L129L 0.014 0.026 0.014 7 16 10 0.018 4 1 0 0 0 Benign 0.072 43988 chr2 65216886 65216886 G C rs1064512 SLC1A4 Nonsynonymous SNV G37R 0.075 0.042 0.078 27 88 16 0.069 23 3 0 0 2 11.01 43989 chr3 133327457 133327457 T C rs1051772 TOPBP1 Synonymous SNV S1444S 0.147 0.151 0.116 55 172 58 0.141 34 11 4 2 4 6.374 43990 chr3 139258411 139258411 G A rs11549984 RBP1 Synonymous SNV R50R 0.078 0.083 0.095 27 91 32 0.069 28 5 0 1 0 10.95 43991 chr7 107872816 107872816 G A rs2072546 NRCAM Synonymous SNV N31N 0.17 0.138 0.16 82 200 53 0.21 47 21 3 0 11 7.121 43992 chr7 111981007 111981007 G A rs11539696 ZNF277 Nonsynonymous SNV V364M 0.127 0.115 0.126 38 149 44 0.097 37 13 4 4 3 12.56 43993 chr7 112102355 112102355 T G rs2253962 IFRD1 Synonymous SNV S226S 0.27 0.305 0.296 105 317 117 0.269 87 34 26 12 15 8.523 43994 chr3 111887788 111887788 A G rs73853324 SLC9C1 Nonsynonymous SNV V1010A 0.069 0.055 0.075 18 81 21 0.046 22 2 0 1 0 19.15 43995 chr3 183951135 183951135 C T rs729377 VWA5B2 Synonymous SNV A160A 0.236 0.242 0.282 106 277 93 0.272 83 35 7 11 15 11.5 43996 chr3 140178550 140178550 C T rs779546467 CLSTN2 Synonymous SNV H387H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.05 43997 chr7 112112279 112112279 G A rs2074796 IFRD1 Synonymous SNV R299R 0.27 0.305 0.296 106 317 117 0.272 87 34 26 12 15 12.03 43998 chr3 183951431 183951431 C T rs902417 VWA5B2 Nonsynonymous SNV P200S 0.199 0.18 0.167 85 234 69 0.218 49 24 6 7 12 11.01 43999 chr3 111901099 111901099 T C rs74840030 SLC9C1 Nonsynonymous SNV M796V 0.06 0.047 0.078 14 71 18 0.036 23 2 0 1 0 8.423 44000 chr14 96795029 96795029 A G rs61736675 ATG2B Synonymous SNV S652S 0.008 0.018 0.003 7 9 7 0.018 1 1 0 0 0 8.458 44001 chr3 183953972 183953972 G A rs1709657 VWA5B2 Synonymous SNV P159P 0.193 0.177 0.197 82 227 68 0.21 58 21 6 6 10 10.44 44002 chr3 183955109 183955109 C T rs843334 VWA5B2 Synonymous SNV P324P 0.193 0.177 0.201 82 227 68 0.21 59 21 6 6 10 11.88 44003 chr3 138191448 138191448 A T rs35537868 ESYT3 Nonsynonymous SNV T662S 0.037 0.034 0.034 17 44 13 0.044 10 0 0 0 0 9.902 44004 chr3 138218994 138218994 T C rs35340237 CEP70 Nonsynonymous SNV N385S 0.044 0.036 0.041 16 52 14 0.041 12 0 0 0 0 0.001 44005 chr3 183976108 183976108 T C rs902415 EEF1AKMT4 Synonymous SNV F171F 0.204 0.182 0.224 86 240 70 0.221 66 24 6 7 12 15.92 44006 chr3 111983157 111983157 G A rs62276974 SLC9C1 Synonymous SNV L304L 0.129 0.125 0.044 44 151 48 0.113 13 27 8 2 9 7.829 44007 chr15 78909398 78909398 C T rs8192479 CHRNA3 Synonymous SNV K115K 0.022 0.018 0.02 8 26 7 0.021 6 0 0 0 0 15.75 44008 chr3 184144585 184144585 A G rs62287529 LINC02054 0.291 0.263 0.299 114 342 101 0.292 88 49 18 12 10 0.004 44009 chr3 14199887 14199887 G A rs2228000 XPC Nonsynonymous SNV A306V 0.244 0.203 0.235 120 286 78 0.308 69 38 5 10 20 Benign 3.201 44010 chr7 116339282 116339282 G A rs11762213 MET Synonymous SNV A48A 0.058 0.049 0.048 13 68 19 0.033 14 3 0 0 1 Benign/Likely benign 9.399 44011 chr15 78922194 78922194 G A rs55919125 CHRNB4 Synonymous SNV S151S 0.043 0.039 0.065 17 50 15 0.044 19 1 0 0 1 10.15 44012 chr14 100375707 100375707 C T rs34198557 EML1 Nonsynonymous SNV A377V 0.15 0.182 0.167 64 176 70 0.164 49 12 8 4 2 17.42 44013 chr3 14199908 14199908 C T rs2227999 XPC Nonsynonymous SNV R299H 0.057 0.042 0.071 36 67 16 0.092 21 2 0 2 0 Benign 0.73 44014 chr7 116596697 116596697 A G rs6960131 ST7-OT4 0 0 0.997 0 0 0 0 293 0 0 146 0 0.002 44015 chr3 112642572 112642572 T C rs79556290 CD200R1 Synonymous SNV A310A 0.048 0.031 0.044 19 56 12 0.049 13 1 0 1 0 0.076 44016 chr3 112643952 112643952 C T rs72491121 CD200R1 Synonymous SNV L263L 0.049 0.031 0.048 19 57 12 0.049 14 1 0 1 0 7.787 44017 chr3 142746021 142746021 A T rs145720949 U2SURP Synonymous SNV I26I 0.012 0.016 0.007 7 14 6 0.018 2 0 1 0 1 0.022 44018 chr3 142839723 142839723 C T rs201667583 CHST2 Nonsynonymous SNV P22L 0.011 0.016 0 7 13 6 0.018 0 0 1 0 1 23.7 44019 chr3 13612936 13612936 A G rs3732666 FBLN2 Nonsynonymous SNV S361G 0.205 0.177 0.235 73 241 68 0.187 69 31 4 9 4 0.21 44020 chr3 112693646 112693648 AAG - rs564728039 CD200R1 F19del 0.02 0.018 0.01 9 23 7 0.023 3 0 0 0 0 44021 chr3 112736411 112736411 C T rs140939168 NEPRO Nonsynonymous SNV V49I 0.026 0.021 0.017 13 30 8 0.033 5 1 0 0 0 9.508 44022 chr3 142078759 142078759 C T rs73238159 XRN1 Nonsynonymous SNV D1137N 0.106 0.096 0.082 30 124 37 0.077 24 8 2 0 3 24.7 44023 chr3 130377561 130377561 C T rs200683208 COL6A6 Synonymous SNV S1925S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.66 44024 chr3 142123841 142123841 C T rs2306700 XRN1 Synonymous SNV E597E 0.128 0.115 0.099 36 150 44 0.092 29 11 5 0 3 14.27 44025 chr7 123097557 123097557 C T rs17146009 IQUB Nonsynonymous SNV D691N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.566 44026 chr15 81598269 81598269 T G rs11556218 IL16 Nonsynonymous SNV N446K 0.053 0.063 0.037 24 62 24 0.062 11 2 0 0 2 8.239 44027 chr3 142178144 142178144 C T rs2229032 ATR Nonsynonymous SNV R2361Q 0.117 0.096 0.092 32 137 37 0.082 27 10 2 0 2 Benign 11.3 44028 chr3 186301703 186301703 A G rs8147 DNAJB11 Nonsynonymous SNV I264V 0.221 0.198 0.241 73 259 76 0.187 71 32 7 10 7 13.37 44029 chr15 81598416 81598416 G A rs1803275 IL16 Synonymous SNV R495R 0.053 0.063 0.037 24 62 24 0.062 11 2 0 0 2 4.392 44030 chr3 186330969 186330969 C G rs4831 AHSG Synonymous SNV L13L 0.191 0.195 0.228 53 224 75 0.136 67 23 9 8 3 11.21 44031 chr3 113375077 113375077 T C rs75025102 USF3 Nonsynonymous SNV S1818G 0.081 0.065 0.082 26 95 25 0.067 24 3 1 0 0 11.28 44032 chr3 113376110 113376110 - TGC rs879134098 USF3 Q1478_A1479insQ 0.018 0.005 0.01 7 21 2 0.018 3 3 0 1 1 44033 chr3 142443441 142443441 G A rs78975236 TRPC1 Nonsynonymous SNV A14T 0.041 0.031 0.031 7 48 12 0.018 9 1 0 0 0 24.6 44034 chr3 148601439 148601439 G C rs143184657 CPA3 Nonsynonymous SNV R273P 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 23.7 44035 chr7 123594206 123594206 G A rs2285996 SPAM1 Synonymous SNV K194K 0.287 0.247 0.231 100 337 95 0.256 68 55 13 6 13 7.983 44036 chr15 82336551 82336551 C T rs61752329 MEX3B Synonymous SNV E220E 0.06 0.076 0.048 28 71 29 0.072 14 3 1 1 0 11.64 44037 chr3 142524858 142524858 G A rs1132030 TRPC1 Synonymous SNV R687R 0.106 0.083 0.153 33 125 32 0.085 45 17 0 4 2 5.233 44038 chr3 138020524 138020524 C T rs1057114228 NME9 Synonymous SNV A254A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.277 44039 chr14 102973947 102973947 T C rs769753028 ANKRD9 Nonsynonymous SNV T94A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.56 44040 chr15 83428193 83428193 G A rs1108135 FSD2 Synonymous SNV H674H 0.089 0.089 0.105 27 104 34 0.069 31 2 2 1 0 3.795 44041 chr3 133191385 133191385 C A rs79087781 BFSP2 Nonsynonymous SNV A407D 0.049 0.036 0.058 23 58 14 0.059 17 2 1 0 0 Benign 24.3 44042 chr3 186917586 186917586 C T rs57195580 RTP1 Nonsynonymous SNV R174C 0.025 0.023 0.034 6 29 9 0.015 10 0 1 1 0 33 44043 chr3 142985717 142985717 T C rs2289491 SLC9A9 Nonsynonymous SNV I589V 0.039 0.047 0.024 12 46 18 0.031 7 2 0 0 1 8.108 44044 chr15 83502065 83502065 A C rs11259953 WHAMM Nonsynonymous SNV H736P 0.093 0.086 0.122 26 109 33 0.067 36 4 2 1 0 1.123 44045 chr3 138403632 138403632 T C rs74701669 PIK3CB Nonsynonymous SNV N229S 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 Likely benign 10.36 44046 chr15 83502066 83502066 C G rs11259954 WHAMM Nonsynonymous SNV H736Q 0.093 0.086 0.122 26 109 33 0.067 36 4 2 1 0 0.099 44047 chr7 127637816 127637816 A G rs17151639 SND1-IT1 0 0 0.259 0 0 0 0 76 0 0 11 0 1.103 44048 chr15 83687498 83687498 G A rs376123965 BTBD1 Synonymous SNV I417I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.68 44049 chr15 84257488 84257488 A G rs778427582 SH3GL3 Nonsynonymous SNV N199S 0 0 0 0 0 0 0 0 0 0 0 0 2.9 44050 chr7 127999621 127999621 G A rs761380050 PRRT4 Nonsynonymous SNV P142L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 44051 chr3 189584563 189584563 C T rs33979049 TP63 Synonymous SNV L108L 0.016 0.029 0.014 6 19 11 0.015 4 0 0 0 0 Benign/Likely benign 13.83 44052 chr3 148766666 148766666 T C rs34474865 HLTF Synonymous SNV R579R 0.098 0.076 0.054 34 115 29 0.087 16 5 0 0 2 7.405 44053 chr3 189607152 189607152 C A rs148076109 TP63 Nonsynonymous SNV P332T 0.011 0.013 0.017 4 13 5 0.01 5 0 0 0 0 Benign/Likely benign 20.8 44054 chr3 148781246 148781246 A T rs61755303 HLTF Nonsynonymous SNV S378T 0.014 0.023 0.017 1 16 9 0.003 5 1 0 0 0 Likely benign 13.29 44055 chr3 140784964 140784964 G A rs199569122 SPSB4 Synonymous SNV S6S 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 7.618 44056 chr3 190106072 190106072 G - rs368234054 CLDN16 A56Lfs*16 0.317 0.279 0.296 109 372 107 0.279 87 59 12 12 11 44057 chr3 190106074 190106074 G C rs3214506 CLDN16 Nonsynonymous SNV A56P 0.317 0.279 0.296 109 372 107 0.279 87 59 12 12 11 Benign 0.022 44058 chr3 115382655 115382655 C T rs28399377 GAP43 Synonymous SNV H10H 0.01 0.01 0.031 7 12 4 0.018 9 0 0 0 0 5.743 44059 chr3 115395321 115395321 G A rs6292 GAP43 Synonymous SNV E164E 0.01 0.01 0.031 6 12 4 0.015 9 0 0 0 0 11.11 44060 chr7 128494922 128494922 G A rs201672146 FLNC Nonsynonymous SNV R2331H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 25.7 44061 chr15 85186837 85186837 T C rs72750868 WDR73 Nonsynonymous SNV D334G 0.044 0.049 0.065 18 52 19 0.046 19 0 0 0 0 2.292 44062 chr14 104641380 104641380 C T rs745753095 KIF26A Nonsynonymous SNV P752L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.8 44063 chr2 73675690 73675690 A G rs199573929 ALMS1 Nonsynonymous SNV Y678C 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.95 44064 chr7 128766505 128766505 A C rs6952057 LOC407835 0 0 0.602 0 0 0 0 177 0 0 85 0 2.088 44065 chr7 128766528 128766528 G C rs10464697 LOC407835 0 0 0.748 0 0 0 0 220 0 0 104 0 1.786 44066 chr3 11885507 11885507 C T rs140510518 TAMM41 Nonsynonymous SNV G105D 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 21.8 44067 chr7 128766533 128766533 A C rs10464698 LOC407835 0 0 0.769 0 0 0 0 226 0 0 106 0 0.621 44068 chr7 128766553 128766553 A G rs6952077 LOC407835 0 0 0.84 0 0 0 0 247 0 0 114 0 7.344 44069 chr3 142839977 142839977 G A rs185111962 CHST2 Nonsynonymous SNV G107R 0.008 0.01 0.014 5 9 4 0.013 4 0 0 0 0 9.775 44070 chr7 128767410 128767410 A G rs10247566 LOC407835 0 0 0.901 0 0 0 0 265 0 0 120 0 1.664 44071 chr7 128767490 128767490 T C rs7809681 LOC407835 0 0 0.905 0 0 0 0 266 0 0 121 0 2.37 44072 chr7 128767506 128767506 T G rs7809687 LOC407835 0 0 0.905 0 0 0 0 266 0 0 121 0 2.766 44073 chr7 128865130 128865130 C T rs4731565 AHCYL2 Synonymous SNV A71A 0.271 0.242 0.276 121 318 93 0.31 81 52 12 12 18 16.95 44074 chr3 15080696 15080696 G A rs2230444 NR2C2 Synonymous SNV Q526Q 0.127 0.143 0.092 51 149 55 0.131 27 12 2 0 2 0.358 44075 chr3 150917000 150917000 T G rs3773614 GPR171 Synonymous SNV T58T 0.088 0.083 0.105 34 103 32 0.087 31 8 1 2 1 0.054 44076 chr7 129962414 129962414 C T rs2306848 CPA4 Synonymous SNV T355T 0.064 0.055 0.095 25 75 21 0.064 28 5 1 1 1 12.96 44077 chr3 151046604 151046604 G T rs3732757 P2RY13 Synonymous SNV I80I 0.067 0.076 0.075 20 79 29 0.051 22 3 4 1 1 8.625 44078 chr7 130007381 130007381 T C rs11761888 CPA5 Nonsynonymous SNV L336S 0.228 0.211 0.211 94 268 81 0.241 62 21 10 8 10 7.733 44079 chr7 130007388 130007388 G T rs17854248 CPA5 Nonsynonymous SNV E338D 0.217 0.201 0.19 90 255 77 0.231 56 18 9 7 9 10.66 44080 chr7 130008285 130008285 T C rs17164867 CPA5 Nonsynonymous SNV M358T 0.216 0.201 0.19 91 254 77 0.233 56 18 9 7 9 0.003 44081 chr3 151165074 151165074 C T rs868473344 IGSF10 Nonsynonymous SNV G899R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.108 44082 chr3 120500065 120500065 C T rs17243695 GTF2E1 Synonymous SNV S356S 0.026 0.029 0.014 9 31 11 0.023 4 0 0 0 0 Benign 17.5 44083 chr3 194387300 194387300 C T rs1675943 LSG1 Synonymous SNV E76E 0.531 0.505 0.476 207 623 194 0.531 140 173 50 32 58 17.94 44084 chr7 130418689 130418689 A G rs111400400 KLF14 Nonsynonymous SNV S58P 0.02 0.031 0.061 4 24 12 0.01 18 10 5 2 1 0.004 44085 chr3 15807763 15807763 G A rs185386403 ANKRD28 Nonsynonymous SNV S24L 0.006 0.013 0.007 4 7 5 0.01 2 0 0 0 0 16.04 44086 chr3 121151812 121151812 G C rs3218634 POLQ Nonsynonymous SNV L2538V 0.068 0.073 0.054 24 80 28 0.062 16 4 1 1 0 28.1 44087 chr3 195027339 195027339 G A rs12491026 ACAP2 Synonymous SNV C339C 0.02 0.016 0.017 5 23 6 0.013 5 0 0 1 0 8.233 44088 chr7 130418720 130418720 A C rs111359117 KLF14 Nonsynonymous SNV H47Q 0.631 0.609 0.711 263 741 234 0.674 209 370 117 104 131 0.003 44089 chr7 130418721 130418721 T G rs184537657 KLF14 Nonsynonymous SNV H47P 0.038 0.052 0.041 21 45 20 0.054 12 16 8 3 3 0.021 44090 chr3 149216629 149216629 C T rs9799030 TM4SF4 Synonymous SNV C174C 0.051 0.052 0.061 12 60 20 0.031 18 2 0 2 0 13.97 44091 chr3 121186422 121186422 G A rs532411 POLQ Nonsynonymous SNV A2304V 0.069 0.073 0.054 24 81 28 0.062 16 4 1 1 0 21.1 44092 chr7 130418744 130418744 T A rs111731678 KLF14 Synonymous SNV A39A 0.06 0.086 0.044 36 71 33 0.092 13 18 10 3 7 7.187 44093 chr2 75921528 75921528 G A rs374711307 GCFC2 Nonsynonymous SNV R118C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 44094 chr3 121207761 121207761 A G rs34240370 POLQ Synonymous SNV N1339N 0.012 0.016 0.003 4 14 6 0.01 1 0 0 0 0 Benign 0.31 44095 chr7 131191461 131191461 A G rs3212300 PODXL Synonymous SNV L344L 0.06 0.047 0.058 17 70 18 0.044 17 3 0 2 0 2.536 44096 chr7 131194255 131194255 G C rs35893129 PODXL Nonsynonymous SNV P266A 0.06 0.047 0.058 19 71 18 0.049 17 4 0 2 0 5.356 44097 chr3 121228960 121228960 G A rs487848 POLQ Nonsynonymous SNV A581V 0.069 0.073 0.054 25 81 28 0.064 16 4 1 1 0 24.3 44098 chr3 149459413 149459413 C T rs11549572 COMMD2 Synonymous SNV L165L 0.078 0.078 0.078 42 91 30 0.108 23 2 4 2 4 6.794 44099 chr7 132409606 132409606 T C rs594208 FLJ40288 0 0 0.673 0 0 0 0 198 0 0 64 0 2.658 44100 chr15 23892352 23892381 CCATCGGGGTCCCCGGAGGAGGAGGATGGG - rs751352401 MAGEL2 A170_M179del 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 44101 chr7 132973722 132973722 G A EXOC4 Nonsynonymous SNV R108Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 44102 chr3 149484970 149484970 G A rs75077284 ANKUB1 Synonymous SNV N493N 0.024 0.023 0.027 15 28 9 0.038 8 0 0 1 1 7.089 44103 chr7 133848257 133848257 G T rs17167553 LRGUK Nonsynonymous SNV D302Y 0.116 0.117 0.136 48 136 45 0.123 40 8 3 2 3 23.6 44104 chr15 25924539 25924539 T C rs1047700 ATP10A Synonymous SNV Q1483Q 0.158 0.156 0.15 70 185 60 0.179 44 16 8 6 7 0.034 44105 chr15 25926179 25926179 C T rs2076744 ATP10A Nonsynonymous SNV A1179T 0.152 0.18 0.136 63 179 69 0.162 40 13 9 5 6 11.6 44106 chr2 84848596 84848596 G A rs61733547 DNAH6 Nonsynonymous SNV R1331H 0.055 0.065 0.071 25 65 25 0.064 21 0 0 1 1 23.4 44107 chr3 195516022 195516022 G A rs148722108 MUC4 Nonsynonymous SNV A810V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.786 44108 chr3 160156951 160156951 C T rs1141023 TRIM59 Synonymous SNV E7E 0.123 0.143 0.19 49 144 55 0.126 56 6 2 5 4 10.96 44109 chr2 84899498 84899498 A T rs147786546 DNAH6 Nonsynonymous SNV M2168L 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 24.6 44110 chr3 138669222 138669222 A G rs60650442 FOXL2NB Synonymous SNV P112P 0.044 0.034 0.048 21 52 13 0.054 14 1 0 1 1 2.795 44111 chr3 150421606 150421606 T A rs140978408 ERICH6 Nonsynonymous SNV E27V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.77 44112 chr3 1394054 1394054 A C rs73094903 CNTN6 Synonymous SNV R367R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.972 44113 chr15 27193178 27193178 G A rs976940176 GABRA5 Nonsynonymous SNV G396E 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 0.842 44114 chr3 16254172 16254172 G A rs17851238 GALNT15 Nonsynonymous SNV A432T 0.086 0.151 0.102 41 101 58 0.105 30 3 5 2 5 15.13 44115 chr3 122060404 122060404 C T rs34173813 CSTA Nonsynonymous SNV T96M 0.23 0.247 0.207 102 270 95 0.262 61 31 14 9 11 23 44116 chr3 140178381 140178381 T C rs17348572 CLSTN2 Nonsynonymous SNV I331T 0.049 0.031 0.044 11 58 12 0.028 13 0 0 0 0 14.24 44117 chr15 27573968 27573968 T C rs140674 GABRG3 Synonymous SNV A169A 0.039 0.049 0.037 14 46 19 0.036 11 1 1 1 0 1.161 44118 chr3 155200133 155200133 T C rs150418951 PLCH1 Nonsynonymous SNV M1228V 0.036 0.049 0.031 24 42 19 0.062 9 0 0 0 0 0.003 44119 chr3 122259640 122259640 T C rs28365795 PARP9 Nonsynonymous SNV I517V 0.259 0.266 0.194 102 304 102 0.262 57 34 13 6 10 3.931 44120 chr3 122277268 122277268 G A rs34006803 PARP9 Nonsynonymous SNV S21L 0.23 0.229 0.167 89 270 88 0.228 49 29 10 5 7 18.16 44121 chr7 135286170 135286170 G A rs35467082 NUP205 Synonymous SNV L451L 0.052 0.047 0.044 22 61 18 0.056 13 1 0 0 0 9.848 44122 chr15 29406180 29406180 C T rs540117581 APBA2 Synonymous SNV H405H 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 17.1 44123 chr3 15712015 15712015 C G ANKRD28 Nonsynonymous SNV C821S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 44124 chr3 195595054 195595054 C T rs7516 TNK2 Synonymous SNV P722P 0.136 0.154 0.116 56 160 59 0.144 34 9 3 3 4 Benign 5.117 44125 chr7 135328055 135328055 T G rs753440454 NUP205 Nonsynonymous SNV S1478R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 44126 chr3 195595212 195595212 C T rs201407161 TNK2 Nonsynonymous SNV V670M 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Uncertain significance 28.1 44127 chr3 140407211 140407211 A T rs138660520 TRIM42 Nonsynonymous SNV T563S 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 0.001 44128 chr3 195778972 195778972 C T rs1805051 TFRC Synonymous SNV T426T 0.115 0.112 0.105 44 135 43 0.113 31 7 4 3 1 5.439 44129 chr3 151163838 151163838 T C rs34114908 IGSF10 Nonsynonymous SNV I1311V 0.006 0.003 0.017 1 7 1 0.003 5 0 0 0 0 0.002 44130 chr7 135614740 135614740 T C rs17168527 MTPN Synonymous SNV K97K 0.085 0.094 0.068 29 100 36 0.074 20 8 4 0 0 0.363 44131 chr7 137128830 137128830 T C rs1918837 DGKI Synonymous SNV E918E 0.317 0.284 0.367 112 372 109 0.287 108 109 34 19 30 2.038 44132 chr3 1414579 1414579 C T rs759904703 CNTN6 Nonsynonymous SNV L472F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 44133 chr3 121712434 121712434 A G rs35661993 ILDR1 Nonsynonymous SNV W299R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.373 44134 chr3 121713081 121713081 C T rs114464909 ILDR1 Synonymous SNV A153A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 16.58 44135 chr3 151176390 151176390 A G rs142214363 IGSF10 Synonymous SNV Y36Y 0.039 0.036 0.034 8 46 14 0.021 10 0 1 0 0 0.003 44136 chr3 158408032 158408032 G A rs62288347 GFM1 Nonsynonymous SNV V511I 0.02 0.029 0.01 8 23 11 0.021 3 0 0 0 0 Benign/Likely benign 22.8 44137 chr7 138601628 138601628 G A rs756710275 KIAA1549 Nonsynonymous SNV A915V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.399 44138 chr2 86280058 86280058 G A rs35625755 POLR1A Synonymous SNV A758A 0.04 0.042 0.017 16 47 16 0.041 5 0 0 0 0 12.04 44139 chr3 196612193 196612193 A G rs34707496 SENP5 Synonymous SNV P47P 0.011 0.008 0.003 5 13 3 0.013 1 0 0 0 0 Benign 0.016 44140 chr3 169539812 169539812 C G rs61738871 LRRIQ4 Nonsynonymous SNV Q35E 0.128 0.148 0.071 45 150 57 0.115 21 7 5 2 3 8.911 44141 chr3 196612300 196612300 A G rs35434690 SENP5 Nonsynonymous SNV N83S 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 Benign 0.001 44142 chr3 158520011 158520011 C T rs28364680 MFSD1 Nonsynonymous SNV P24S 0.112 0.102 0.085 56 131 39 0.144 25 3 3 0 2 20.7 44143 chr3 122329468 122329468 A T rs116662220 PARP15 Nonsynonymous SNV E145V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.639 44144 chr3 15276541 15276541 A G rs17539942 CAPN7 Synonymous SNV K432K 0.118 0.112 0.112 47 138 43 0.121 33 5 1 2 1 8.628 44145 chr3 169539990 169539990 G A rs61754874 LRRIQ4 Nonsynonymous SNV S94N 0.129 0.143 0.071 45 151 55 0.115 21 7 5 2 3 17.61 44146 chr15 31521507 31521507 G - LOC283710 R26Gfs*101 0.073 0.073 0 53 86 28 0.136 0 0 0 0 0 44147 chr3 122331994 122331994 C T rs115391654 PARP15 Nonsynonymous SNV A217V 0.017 0.018 0.027 6 20 7 0.015 8 0 0 0 0 15.88 44148 chr7 139026152 139026152 T G rs10265 FMC1, FMC1-LUC7L2 Nonsynonymous SNV S8A 0.326 0.318 0.34 124 383 122 0.318 100 66 19 24 22 13.25 44149 chr3 122338637 122338637 G A rs6793271 PARP15 Nonsynonymous SNV R103K 0.005 0.01 0 0 6 4 0 0 0 0 0 0 10.72 44150 chr3 169557842 169557842 C T rs16854445 LRRC31 Synonymous SNV Q473Q 0.116 0.096 0.061 38 136 37 0.097 18 7 2 2 1 9.058 44151 chr3 160474150 160474150 C T PPM1L Synonymous SNV Y18Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 9.377 44152 chr7 139415775 139415775 G C rs7456421 HIPK2 Synonymous SNV V353V 0.156 0.143 0.173 67 183 55 0.172 51 10 2 5 10 1.633 44153 chr3 169569432 169569432 C G rs35923425 LRRC31 Nonsynonymous SNV L322F 0.114 0.096 0.058 38 134 37 0.097 17 7 2 2 1 26.3 44154 chr3 122496747 122496747 T C rs141356063 HSPBAP1 Nonsynonymous SNV H24R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1 44155 chr3 123456362 123456362 C T rs367649461 MYLK Nonsynonymous SNV R30H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 44156 chr3 169639050 169639050 C T rs61420799 SAMD7 Synonymous SNV C45C 0.05 0.042 0.017 19 59 16 0.049 5 2 1 0 1 10.62 44157 chr3 196675468 196675468 A G rs17854327 PIGZ Synonymous SNV S100S 0.016 0.016 0.014 5 19 6 0.013 4 0 0 0 0 0.015 44158 chr3 143704516 143704516 C T rs9847681 DIPK2A Synonymous SNV L54L 0.07 0.109 0.065 21 82 42 0.054 19 7 6 0 1 16.03 44159 chr3 123634475 123634475 G A rs148318048 CCDC14 Synonymous SNV L471L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.882 44160 chr15 33446610 33446610 A G rs61740911 FMN1 Nonsynonymous SNV F169S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.002 44161 chr3 122694935 122694935 G T rs773464879 SEMA5B Stop gain C12X 0.01 0.005 0.003 3 12 2 0.008 1 1 0 0 0 23.8 44162 chr2 86709215 86709215 C G rs145935155 KDM3A Nonsynonymous SNV S892C 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 28 44163 chr15 89873364 89873364 C G rs61752784 POLG Nonsynonymous SNV G268A 0.02 0.029 0.007 5 24 11 0.013 2 0 2 0 0 Conflicting interpretations of pathogenicity 27.6 44164 chr7 140159721 140159721 T C rs10243155 MKRN1 Synonymous SNV K110K 0.147 0.164 0.133 55 172 63 0.141 39 9 5 3 3 8.357 44165 chr3 122880293 122880293 C T rs148193253 PDIA5 Synonymous SNV S490S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.29 44166 chr3 170811629 170811629 T G rs192746498 TNIK Nonsynonymous SNV E815A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 25.2 44167 chr15 89876828 89876833 TGCTGC - rs752180824 POLG Q54_Q55del 0.019 0.026 0.007 5 22 10 0.013 2 0 2 0 0 44168 chr3 16640075 16640075 T C rs11710967 DAZL Nonsynonymous SNV T32A 0.191 0.161 0.146 65 224 62 0.167 43 28 4 4 8 6.017 44169 chr3 15609364 15609364 C T rs1030446345 HACL1 Nonsynonymous SNV E384K 0.007 0.003 0 0 8 1 0 0 0 0 0 0 35 44170 chr3 124418846 124418846 C T rs2289427 KALRN Synonymous SNV S956S 0.181 0.18 0.204 75 212 69 0.192 60 21 8 4 8 17.53 44171 chr7 141408573 141408573 T A rs771445915 WEE2 Nonsynonymous SNV D5E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.316 44172 chr3 167747022 167747022 C T rs61743591 GOLIM4 Nonsynonymous SNV G473E 0.019 0.036 0.027 8 22 14 0.021 8 0 0 0 0 19.32 44173 chr3 25639964 25639964 G A rs62638670 TOP2B Nonsynonymous SNV P1567L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23 44174 chr3 14798976 14798976 G A rs61736141 C3orf20 Nonsynonymous SNV R558H 0.032 0.013 0.02 9 38 5 0.023 6 1 0 0 0 11.26 44175 chr3 124646468 124646468 T C rs373872442 MUC13 Nonsynonymous SNV N141S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 44176 chr7 141673345 141673345 C G rs713598 TAS2R38 Nonsynonymous SNV A49P 0.474 0.466 0.48 198 557 179 0.508 141 130 42 36 55 drug response 14.61 44177 chr3 14801487 14801487 G A rs36096720 C3orf20 Synonymous SNV V656V 0.033 0.013 0.02 9 39 5 0.023 6 1 0 0 0 4.61 44178 chr3 158315970 158315970 A G rs143366875 MLF1 Synonymous SNV S82S 0.014 0.01 0.02 6 17 4 0.015 6 0 0 0 0 10.32 44179 chr3 27463229 27463229 C T rs79251239 SLC4A7 Synonymous SNV E308E 0.18 0.195 0.204 73 211 75 0.187 60 15 7 7 8 14.91 44180 chr3 170724961 170724961 G A rs374624284 SLC2A2 Synonymous SNV I77I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.64 44181 chr15 38786919 38786919 A C RASGRP1 Nonsynonymous SNV H606Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.004 44182 chr3 148872972 148872972 G A rs34197730 HPS3 Synonymous SNV T328T 0.032 0.029 0.037 9 38 11 0.023 11 0 0 0 0 Benign 14.14 44183 chr3 12531421 12531421 G A rs12495784 TSEN2 Nonsynonymous SNV R41H 0.025 0.023 0.024 14 29 9 0.036 7 0 0 0 0 Benign 5.53 44184 chr3 170802910 170802910 C T rs17857452 TNIK Nonsynonymous SNV A907T 0.144 0.169 0.139 54 169 65 0.138 41 13 7 4 3 6.258 44185 chr3 148895654 148895654 A G rs34394958 CP Synonymous SNV H997H 0.037 0.039 0.034 11 44 15 0.028 10 2 0 0 0 Benign/Likely benign 1.899 44186 chr3 170811667 170811667 G A rs16855789 TNIK Synonymous SNV S802S 0.149 0.193 0.163 55 175 74 0.141 48 15 9 5 3 10.81 44187 chr3 12531461 12531461 G A rs78685815 TSEN2 Synonymous SNV A54A 0.025 0.023 0.024 14 29 9 0.036 7 0 0 0 0 Benign 12.67 44188 chr7 142481234 142481234 T C rs57725689 PRSS3P2 0 0 0.837 0 0 0 0 246 0 0 122 0 7.898 44189 chr3 179051472 179051472 A G rs35983049 ZNF639 Synonymous SNV E240E 0.145 0.13 0.119 52 170 50 0.133 35 12 4 3 5 0.241 44190 chr3 12544779 12544779 G A rs77899976 TSEN2 Synonymous SNV E109E 0.019 0.018 0.02 12 22 7 0.031 6 0 0 0 0 Benign 2.378 44191 chr7 142481376 142481376 T A rs73740310 PRSS3P2 0 0 0.837 0 0 0 0 246 0 0 122 0 10.02 44192 chr3 12545091 12545091 T C rs3796329 TSEN2 Synonymous SNV D213D 0.019 0.018 0.02 12 22 7 0.031 6 0 0 0 0 Benign 0.108 44193 chr7 142481807 142481807 C T rs4726591 PRSS3P2 0 0 0.827 0 0 0 0 243 0 0 120 0 1.757 44194 chr7 142481867 142481867 C G rs1012146987 PRSS3P2 0 0 0.837 0 0 0 0 246 0 0 122 0 10.81 44195 chr3 12560560 12560560 G A rs17036879 TSEN2 Synonymous SNV E295E 0.019 0.018 0.02 12 22 7 0.031 6 0 0 0 0 Benign 13.12 44196 chr3 3146606 3146606 G A rs151133737 IL5RA Synonymous SNV D21D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.113 44197 chr3 16419309 16419309 C T rs34276015 RFTN1 Nonsynonymous SNV E248K 0.063 0.065 0.068 32 74 25 0.082 20 3 2 1 1 14.49 44198 chr3 179306775 179306775 C T rs10513762 MRPL47 Nonsynonymous SNV R103H 0.059 0.055 0.078 16 69 21 0.041 23 1 1 1 1 11.14 44199 chr3 16419352 16419352 G A rs61739728 RFTN1 Synonymous SNV L233L 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 8.249 44200 chr3 12584699 12584699 A G rs12496109 MKRN2OS Nonsynonymous SNV V83A 0.019 0.018 0.017 12 22 7 0.031 5 0 0 0 0 24.1 44201 chr3 179322385 179322385 A C rs2339844 MRPL47 Nonsynonymous SNV C10G 0.064 0.057 0.078 18 75 22 0.046 23 1 1 1 1 13.76 44202 chr15 40099769 40099769 T C rs66490630 GPR176 Nonsynonymous SNV K77R 0.037 0.031 0.037 15 44 12 0.038 11 2 0 0 1 7.405 44203 chr2 97514144 97514144 A G ANKRD39 Nonsynonymous SNV L149P 0.005 0.013 0 4 6 5 0.01 0 0 0 0 0 30 44204 chr3 126142434 126142436 GGA - rs140223152 CFAP100 E412del 0.079 0.104 0.068 44 93 40 0.113 20 4 3 1 3 44205 chr15 90610934 90610934 C G rs151314806 ZNF710 Nonsynonymous SNV P189A 0.012 0.013 0.007 3 14 5 0.008 2 0 0 0 0 0.026 44206 chr3 126191011 126191011 G A rs62264721 ZXDC Synonymous SNV L349L 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 9.855 44207 chr3 179371154 179371154 C T rs2276803 USP13 Synonymous SNV N47N 0.202 0.232 0.19 84 237 89 0.215 56 24 13 8 9 20.2 44208 chr3 172165757 172165757 G C rs2232169 GHSR Synonymous SNV L149L 0.023 0.029 0.041 11 27 11 0.028 12 0 0 0 0 Benign 3.627 44209 chr15 90611521 90611521 C T rs147080007 ZNF710 Synonymous SNV C384C 0.012 0.013 0.007 3 14 5 0.008 2 0 0 0 0 8.621 44210 chr3 32586521 32586521 C T rs138677120 DYNC1LI1 Nonsynonymous SNV V139I 0.015 0.029 0.02 4 18 11 0.01 6 0 0 0 0 6.865 44211 chr3 172166144 172166144 G A rs2232165 GHSR Synonymous SNV D20D 0.025 0.031 0.041 11 29 12 0.028 12 0 0 0 0 Benign 0.003 44212 chr3 149485531 149485531 A C rs3821406 ANKUB1 Nonsynonymous SNV I306M 0.004 0.003 0.007 5 5 1 0.013 2 0 0 0 0 9.084 44213 chr3 32769189 32769189 A T rs11558687 CNOT10 Nonsynonymous SNV T348S 0.032 0.029 0.02 7 37 11 0.018 6 0 0 0 0 23.6 44214 chr3 172766822 172766822 G A rs508508 SPATA16 Synonymous SNV S225S 0.139 0.133 0.129 43 163 51 0.11 38 12 3 5 3 Benign 15.91 44215 chr7 143175502 143175502 C T rs76518630 TAS2R41 Synonymous SNV Y179Y 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 0.494 44216 chr7 143216268 143216268 G A rs2949768 EPHA1-AS1 0 0 0.398 0 0 0 0 117 0 0 24 0 7.232 44217 chr3 126270923 126270923 G C rs34760151 C3orf22 Synonymous SNV P44P 0.032 0.034 0.041 12 38 13 0.031 12 1 0 0 0 0.04 44218 chr15 90628591 90628591 G A rs61737003 IDH2 Synonymous SNV S202S 0.016 0.021 0.041 8 19 8 0.021 12 0 0 2 1 Likely benign 9.043 44219 chr15 90631706 90631706 C T rs749096156 IDH2 Nonsynonymous SNV R58Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 44220 chr3 126451937 126451937 G T rs2272487 CHCHD6 Nonsynonymous SNV A95S 0.134 0.146 0.156 55 157 56 0.141 46 8 5 4 6 22.3 44221 chr3 33118631 33118631 G A rs9865342 GLB1 Synonymous SNV H58H 0.079 0.107 0.109 26 93 41 0.067 32 3 1 2 0 1.516 44222 chr2 99012734 99012734 T C rs200069389 CNGA3 Synonymous SNV G349G 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 0.02 44223 chr3 150690439 150690439 T A rs3796242 CLRN1 Synonymous SNV A19A 0.115 0.109 0.092 36 135 42 0.092 27 11 2 4 2 Benign 13.29 44224 chr2 99439603 99439603 G A rs149622421 KIAA1211L Nonsynonymous SNV A378V 0.048 0.055 0.037 13 56 21 0.033 11 2 0 0 1 17.04 44225 chr3 126708459 126708459 C T rs61746811 PLXNA1 Synonymous SNV F341F 0.048 0.049 0.065 17 56 19 0.044 19 2 1 0 0 2.383 44226 chr3 126722304 126722304 C T rs41266467 PLXNA1 Synonymous SNV T503T 0.051 0.052 0.071 20 60 20 0.051 21 3 1 2 0 18.35 44227 chr2 99779396 99779400 AAATT - LIPT1 L327Ffs*7 0.003 0.005 0 0 3 2 0 0 0 0 0 0 44228 chr2 99978048 99978048 G A rs12233086 EIF5B Synonymous SNV V228V 0.05 0.068 0.071 44 59 26 0.113 21 4 2 2 7 8.649 44229 chr3 180327641 180327641 A G rs773699154 TTC14 Nonsynonymous SNV N542D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.43 44230 chr3 126676318 126676318 G A rs756119568 CHCHD6 Nonsynonymous SNV R210Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.6 44231 chr15 91304325 91304325 A G rs28385011 BLM Synonymous SNV L574L 0.007 0.016 0 2 8 6 0.005 0 0 0 0 0 Benign/Likely benign 3.549 44232 chr15 40705225 40705225 C T rs2229312 IVD Synonymous SNV D211D 0.119 0.112 0.126 57 140 43 0.146 37 7 4 2 3 Benign 14.11 44233 chr3 36422202 36422202 G C rs149913047 STAC Nonsynonymous SNV E23Q 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 14.34 44234 chr3 17051450 17051450 C A rs28932173 PLCL2 Synonymous SNV R78R 0.054 0.036 0.02 15 63 14 0.038 6 3 0 0 2 11.29 44235 chr7 14758273 14758273 C T rs1997040 DGKB Synonymous SNV R113R 0.44 0.458 0.463 166 516 176 0.426 136 111 41 32 35 9.008 44236 chr7 1478495 1478495 A G rs4492283 MICALL2 Synonymous SNV P701P 0.158 0.161 0.15 60 185 62 0.154 44 12 3 3 3 0.042 44237 chr15 91448626 91448626 C T rs28446956 MAN2A2 Nonsynonymous SNV T93M 0.014 0.021 0.02 2 16 8 0.005 6 0 1 0 0 13.11 44238 chr3 36779992 36779992 G A rs55888784 DCLK3 Synonymous SNV R53R 0.037 0.036 0.003 5 43 14 0.013 1 0 0 0 0 2.221 44239 chr3 36896802 36896802 T C TRANK1 Nonsynonymous SNV M1427V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.9 44240 chr7 148288020 148288020 G T rs62624492 C7orf33 Star tloss M1? 0.028 0.026 0.048 7 33 10 0.018 14 1 2 1 0 0.083 44241 chr7 148288135 148288135 C T rs111320068 C7orf33 Synonymous SNV L40L 0.028 0.026 0.048 7 33 10 0.018 14 1 2 1 0 9.002 44242 chr15 91454110 91454110 C T rs77433391 MAN2A2 Synonymous SNV V598V 0.013 0.021 0.017 2 15 8 0.005 5 0 1 0 0 15.37 44243 chr7 148801337 148801337 T C rs12704061 ZNF425 Synonymous SNV T542T 0.166 0.203 0.18 81 195 78 0.208 53 15 6 4 2 0.003 44244 chr15 91455321 91455321 C T rs74039150 MAN2A2 Synonymous SNV L720L 0.014 0.021 0.02 2 16 8 0.005 6 0 1 0 0 12.67 44245 chr3 36898991 36898991 T C rs61732326 TRANK1 Nonsynonymous SNV Q697R 0.042 0.018 0.048 14 49 7 0.036 14 2 0 0 1 12.2 44246 chr7 148851273 148851273 G C rs3801979 ZNF398 Nonsynonymous SNV E87D 0.071 0.065 0.095 38 83 25 0.097 28 5 0 3 2 12.52 44247 chr7 148873633 148873633 G A rs113060841 ZNF398 Synonymous SNV P245P 0.014 0.01 0.037 4 16 4 0.01 11 0 0 0 0 13.65 44248 chr3 12858822 12858822 C T rs3732677 CAND2 Synonymous SNV H704H 0.05 0.073 0.061 14 59 28 0.036 18 3 1 1 0 1.219 44249 chr7 148991489 148991489 - AGAGA rs140611544 LOC155060 0 0 0.075 0 0 0 0 22 0 0 1 0 44250 chr3 38081031 38081031 A T rs7616776 DLEC1 Synonymous SNV S105S 0.224 0.242 0.218 103 263 93 0.264 64 30 6 9 16 0.015 44251 chr7 148991638 148991638 G A rs75001734 LOC155060 0 0 0.071 0 0 0 0 21 0 0 1 0 1.329 44252 chr7 148991712 148991712 A G rs13236978 LOC155060 0 0 0.629 0 0 0 0 185 0 0 55 0 4.02 44253 chr3 183558402 183558402 C G rs3732581 PARL Nonsynonymous SNV V212L 0.197 0.19 0.517 81 231 73 0.208 152 94 29 39 32 14.82 44254 chr15 93015212 93015212 C T rs16974287 C15orf32 0.008 0.023 0 8 9 9 0.021 0 0 0 0 0 4.086 44255 chr3 128664260 128664260 T C rs554959598 KIAA1257 Nonsynonymous SNV I347V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 44256 chr3 12858999 12858999 A G CAND2 Synonymous SNV P763P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.711 44257 chr7 149481994 149481994 G T rs73168055 SSPO 0.069 0.047 0.061 17 81 18 0.044 18 1 0 0 1 11.97 44258 chr3 183777950 183777950 C T rs148698898 HTR3C Nonsynonymous SNV P385L 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 14.59 44259 chr3 10138069 10138069 T G rs2272125 FANCD2 Synonymous SNV L1329L 0.176 0.143 0.201 57 207 55 0.146 59 18 4 6 4 Benign 7.818 44260 chr15 41148163 41148163 C T rs690136 SPINT1 Synonymous SNV S397S 0.052 0.068 0.044 28 61 26 0.072 13 3 1 1 2 16.17 44261 chr15 41148250 41148250 C T rs690365 SPINT1 Synonymous SNV R426R 0.051 0.065 0.041 28 60 25 0.072 12 2 1 1 2 13.12 44262 chr15 41186990 41186990 C T rs16971177 VPS18 Synonymous SNV Y8Y 0.047 0.06 0.024 26 55 23 0.067 7 1 1 0 2 14.5 44263 chr15 41192558 41192558 T C rs595559 VPS18 Synonymous SNV T514T 0.049 0.063 0.027 25 58 24 0.064 8 1 2 0 2 0.003 44264 chr3 18392819 18392819 C T rs116044839 SATB1 Nonsynonymous SNV G621S 0.148 0.146 0.105 43 174 56 0.11 31 15 2 3 1 22.8 44265 chr15 93563384 93563384 C T rs139534358 CHD2 Synonymous SNV A1683A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign/Likely benign 17.28 44266 chr3 179143941 179143941 A G rs1078749 GNB4 Synonymous SNV N16N 0.091 0.086 0.068 32 107 33 0.082 20 10 2 0 1 Benign 8.027 44267 chr3 156763442 156763442 - C rs768397561 LEKR1 Frameshift insertion Q663Pfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 44268 chr3 129155413 129155413 G A rs139242730 MBD4 Synonymous SNV I358I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.966 44269 chr3 10320579 10320579 G A rs61730103 TATDN2 Nonsynonymous SNV S719N 0.01 0.013 0.007 9 12 5 0.023 2 0 0 0 0 25.9 44270 chr3 38766701 38766701 C T rs6791171 SCN10A Synonymous SNV T966T 0.106 0.081 0.044 31 124 31 0.079 13 5 3 0 1 Benign 14.63 44271 chr3 129266267 129266267 C T rs553923840 H1-8 Nonsynonymous SNV P41L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.047 44272 chr3 184700426 184700426 C T rs11555405 VPS8 Nonsynonymous SNV H1152Y 0.258 0.232 0.265 106 303 89 0.272 78 36 7 7 15 6.882 44273 chr3 3886847 3886847 G C rs3749349 LRRN1 Synonymous SNV L174L 0.118 0.115 0.136 49 138 44 0.126 40 7 3 4 2 3.166 44274 chr3 3886894 3886894 C T rs147007969 LRRN1 Nonsynonymous SNV T190I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.6 44275 chr3 184102396 184102396 C T rs16858778 CHRD Synonymous SNV N504N 0.06 0.049 0.061 30 70 19 0.077 18 2 1 0 1 12.28 44276 chr3 182923984 182923984 G A rs61750384 MCF2L2 Nonsynonymous SNV R911C 0.014 0.008 0 1 16 3 0.003 0 0 0 0 0 32 44277 chr3 3886919 3886919 C T rs3749348 LRRN1 Synonymous SNV I198I 0.118 0.12 0.136 49 139 46 0.126 40 7 3 4 2 13.56 44278 chr3 38888764 38888764 G A rs62244134 SCN11A Synonymous SNV Y1599Y 0.106 0.076 0.075 25 125 29 0.064 22 10 1 0 0 2.381 44279 chr15 99023975 99023975 A C rs144765676 FAM169B Nonsynonymous SNV F13C 0.007 0.013 0.003 6 8 5 0.015 1 0 0 0 0 26.6 44280 chr3 159943456 159943456 T A C3orf80 Nonsynonymous SNV S12T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 44281 chr3 160131347 160131347 A G rs33999879 SMC4 Nonsynonymous SNV N356S 0.083 0.081 0 30 97 31 0.077 0 3 1 0 1 0.002 44282 chr15 99192755 99192762 TTTTTTTT - IRAIN 0.038 0.044 0.126 20 45 17 0.051 37 18 7 14 10 44283 chr7 150217089 150217089 G A rs7800829 GIMAP7 Synonymous SNV L9L 0.063 0.081 0.075 17 74 31 0.044 22 4 2 0 0 9.097 44284 chr15 99434816 99434816 C A rs2229764 IGF1R Synonymous SNV G301G 0.053 0.063 0.024 15 62 24 0.038 7 1 1 0 0 Likely benign 21.1 44285 chr3 160227606 160227606 A G rs2305401 KPNA4 Synonymous SNV I397I 0.084 0.078 0.051 29 99 30 0.074 15 3 1 1 1 11.17 44286 chr15 41989091 41989091 C A rs61736074 MGA Nonsynonymous SNV P628Q 0.024 0.023 0.01 11 28 9 0.028 3 1 0 0 0 25.8 44287 chr3 160803960 160803960 A G rs756889813 B3GALNT1 Synonymous SNV L195L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 44288 chr7 150389856 150389856 A G rs2075078 GIMAP2 Nonsynonymous SNV H161R 0.158 0.148 0.19 50 185 57 0.128 56 22 4 4 5 0.001 44289 chr3 186445052 186445052 T G rs2304456 KNG1 Nonsynonymous SNV I197M 0.109 0.065 0.078 38 128 25 0.097 23 8 3 0 3 0.861 44290 chr7 150417677 150417677 G A rs4725358 GIMAP1 Synonymous SNV R195R 0.066 0.065 0.102 16 78 25 0.041 30 4 2 1 0 1.434 44291 chr3 39178437 39178437 G T rs35934336 TTC21A Nonsynonymous SNV R1007L 0.055 0.044 0.051 10 64 17 0.026 15 2 1 0 0 32 44292 chr3 129695714 129695714 T C rs5660 TRH Synonymous SNV D128D 0.076 0.099 0.085 19 89 38 0.049 25 2 2 1 0 Benign 0.006 44293 chr3 164730804 164730804 T C rs74648160 SI Synonymous SNV T1342T 0.118 0.104 0.116 50 138 40 0.128 34 3 7 3 4 Likely benign 1.32 44294 chr3 130110302 130110302 C T rs148235459 COL6A5 Synonymous SNV H899H 0.036 0.026 0.041 9 42 10 0.023 12 1 1 1 0 8.208 44295 chr3 164741534 164741534 A G rs146785675 SI Nonsynonymous SNV Y975H 0.014 0.005 0.01 13 16 2 0.033 3 0 0 0 2 Conflicting interpretations of pathogenicity 26.6 44296 chr3 185766446 185766446 G A rs753650055 ETV5 Synonymous SNV A505A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.55 44297 chr3 11067497 11067497 C T rs144034291 SLC6A1 Synonymous SNV Y118Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.31 44298 chr3 187416666 187416666 C T rs11927120 RTP2 Nonsynonymous SNV G100S 0.162 0.161 0.184 84 190 62 0.215 54 15 8 6 8 19.18 44299 chr3 165491280 165491280 C T rs1803274 BCHE Nonsynonymous SNV A567T 0.19 0.211 0.211 60 223 81 0.154 62 12 10 9 8 Benign 23 44300 chr3 183911465 183911465 C T rs843338 ABCF3 Synonymous SNV F697F 0.028 0.023 0.014 3 33 9 0.008 4 0 0 0 0 13.94 44301 chr3 39226114 39226114 G A rs34810344 XIRP1 Nonsynonymous SNV A291V 0.141 0.112 0.109 60 166 43 0.154 32 10 3 1 5 0.151 44302 chr3 167164187 167164187 A G rs2272138 SERPINI2 Synonymous SNV N378N 0.121 0.104 0.102 34 142 40 0.087 30 5 2 3 3 0.617 44303 chr7 150704250 150704250 C G rs2566514 NOS3 Synonymous SNV A666A 0.279 0.253 0.255 116 328 97 0.297 75 46 14 8 17 Benign 16.05 44304 chr3 39230439 39230439 G A rs115099187 XIRP1 Synonymous SNV D166D 0.043 0.026 0.048 10 51 10 0.026 14 1 1 0 0 0.619 44305 chr3 39431961 39431961 C G rs144149294 SLC25A38 Nonsynonymous SNV T80R 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 44306 chr7 150747937 150747937 C A rs11977275 ASIC3 Synonymous SNV P302P 0.153 0.156 0.163 51 180 60 0.131 48 14 4 3 4 12.56 44307 chr7 150761680 150761680 C A rs1050702 SLC4A2 Synonymous SNV R86R 0.157 0.161 0.15 50 184 62 0.128 44 14 4 4 5 18.15 44308 chr7 150767360 150767360 C T rs140685664 SLC4A2 Nonsynonymous SNV A450V 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 11.78 44309 chr3 184073551 184073551 C T rs3749221 CLCN2 Synonymous SNV P323P 0.02 0.021 0.065 10 24 8 0.026 19 0 0 0 0 18.44 44310 chr3 169485588 169485588 G C rs34273285 ACTRT3 Nonsynonymous SNV L251V 0.022 0.036 0.014 9 26 14 0.023 4 1 1 0 1 19.16 44311 chr3 184082931 184082931 T C rs11556518 POLR2H Synonymous SNV F56F 0.039 0.036 0.078 24 46 14 0.062 23 1 0 0 2 2.654 44312 chr7 150774227 150774227 T C FASTK Nonsynonymous SNV Q322R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 44313 chr3 184099342 184099342 G C rs3749228 CHRD Synonymous SNV P147P 0.048 0.036 0.068 25 56 14 0.064 20 1 0 0 3 16.78 44314 chr3 169485639 169485639 C T rs2068178 ACTRT3 Nonsynonymous SNV E234K 0.023 0.036 0.014 9 27 14 0.023 4 1 1 0 1 18.37 44315 chr3 190158168 190158168 G C rs35161724 TMEM207 Nonsynonymous SNV L57V 0.097 0.086 0.129 51 114 33 0.131 38 7 1 3 5 21.7 44316 chr3 40503520 40503520 - CTGCTGCTG rs369485042 RPL14 A159_K160insAAA 0.194 0.211 0.095 83 228 81 0.213 28 27 4 9 13 44317 chr15 42179479 42179479 C T rs55830029 SPTBN5 Nonsynonymous SNV V274I 0.013 0.008 0.003 5 15 3 0.013 1 0 0 0 0 18.8 44318 chr3 40529603 40529603 C T rs113564598 ZNF619 Synonymous SNV F490F 0.029 0.031 0.02 3 34 12 0.008 6 0 0 0 0 11.49 44319 chr3 169500397 169500397 T C rs35406871 MYNN Synonymous SNV S455S 0.022 0.036 0.014 9 26 14 0.023 4 1 1 0 1 8.963 44320 chr3 190167533 190167533 C T rs10513852 TMEM207 Synonymous SNV P22P 0.101 0.094 0.133 50 119 36 0.128 39 7 1 3 5 7.931 44321 chr3 130368337 130368337 C T rs145622340 COL6A6 Synonymous SNV F1888F 0.013 0.01 0.01 2 15 4 0.005 3 0 0 0 0 13.25 44322 chr3 184106493 184106493 T G rs2293606 CHRD Synonymous SNV P891P 0.048 0.031 0.058 24 56 12 0.062 17 0 0 0 2 2.812 44323 chr15 42287606 42287606 T C rs4924595 PLA2G4E Nonsynonymous SNV N400S 0.06 0.06 0.048 19 71 23 0.049 14 1 1 0 0 23 44324 chr3 186508030 186508030 C G rs771112894 RFC4 Nonsynonymous SNV E299D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.43 44325 chr3 132384671 132384671 T A UBA5 Nonsynonymous SNV L56M 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.5 44326 chr7 151504499 151504499 G A rs10257529 LOC644090 Synonymous SNV T61T 0 0 0.534 0 0 0 0 157 0 0 38 0 5.741 44327 chr3 42251580 42251580 - GGA TRAK1 E624_G625insE 0.049 0.042 0 19 58 16 0.049 0 0 0 0 0 44328 chr3 42264715 42264715 C G rs143591096 TRAK1 Nonsynonymous SNV P688R 0.009 0 0.007 3 11 0 0.008 2 0 0 0 0 Benign/Likely benign 26.6 44329 chr7 151684294 151684294 G A rs75797831 GALNTL5 Nonsynonymous SNV V196I 0.025 0.026 0.014 12 29 10 0.031 4 2 0 0 0 Benign 0.659 44330 chr3 133342218 133342218 C T rs4854738 TOPBP1 Synonymous SNV V999V 0.055 0.057 0.085 26 64 22 0.067 25 2 1 0 1 14.31 44331 chr3 42448471 42448471 G A rs2286720 LYZL4 Synonymous SNV F53F 0.067 0.076 0.071 29 79 29 0.074 21 1 1 1 2 11.65 44332 chr3 42568929 42568929 T C rs2229722 VIPR1 Synonymous SNV I100I 0.141 0.115 0.184 51 166 44 0.131 54 9 7 3 5 0.113 44333 chr16 113099 113099 C T rs924929547 RHBDF1 Nonsynonymous SNV V182I 0 0 0 0 0 0 0 0 0 0 0 0 1.076 44334 chr3 42680779 42680779 G A rs544323932 NKTR Nonsynonymous SNV D1195N 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24.3 44335 chr3 170946002 170946002 A G rs17217552 TNIK Synonymous SNV H44H 0.031 0.034 0.024 14 36 13 0.036 7 1 1 0 0 4.273 44336 chr3 133371471 133371471 G A rs55633281 TOPBP1 Nonsynonymous SNV R309C 0.098 0.13 0.092 48 115 50 0.123 27 9 3 1 4 25.1 44337 chr3 189712010 189712010 G A rs1719600 P3H2 Synonymous SNV H51H 0.252 0.245 0.228 93 296 94 0.238 67 45 9 6 9 Benign 0.316 44338 chr3 113377505 113377505 T G rs16861271 USF3 Synonymous SNV L1008L 0.122 0.133 0.126 30 143 51 0.077 37 12 7 2 0 0.016 44339 chr3 171969228 171969228 T C rs35366330 FNDC3B Synonymous SNV H229H 0.025 0.029 0.034 7 29 11 0.018 10 0 0 1 0 0.237 44340 chr7 154720259 154720259 T C rs11543936 PAXIP1-AS2 0 0 0.418 0 0 0 0 123 0 0 26 0 1.665 44341 chr7 154736077 154736077 G A rs930437 PAXIP1-AS2 0 0 0.49 0 0 0 0 144 0 0 55 0 2.076 44342 chr3 172482203 172482203 C T rs754828041 ECT2 Nonsynonymous SNV H371Y 0.001 0 0 0 1 0 0 0 0 0 0 0 35 44343 chr3 113737568 113737568 G A rs17603649 CCDC191 Nonsynonymous SNV R352W 0.025 0.031 0.048 7 29 12 0.018 14 0 0 0 0 34 44344 chr3 194338424 194338424 G C rs58679389 TMEM44 Nonsynonymous SNV R232G 0.106 0.096 0.078 46 124 37 0.118 23 4 3 0 2 2.154 44345 chr15 42734320 42734320 C T rs61753567 ZNF106 Synonymous SNV V400V 0.088 0.109 0.085 31 103 42 0.079 25 5 3 0 2 12.86 44346 chr3 186338546 186338546 C T rs369185792 AHSG Nonsynonymous SNV R283W 0.004 0 0 0 5 0 0 0 0 0 0 0 24.2 44347 chr3 194387253 194387253 A G rs34423045 LSG1 Nonsynonymous SNV L92P 0.072 0.083 0.085 33 85 32 0.085 25 6 0 1 2 9.826 44348 chr3 115571364 115571364 C T rs3821560 LSAMP Synonymous SNV S205S 0.049 0.052 0.075 17 58 20 0.044 22 0 0 1 0 16.04 44349 chr3 43743914 43743914 G T rs148743497 ABHD5 Nonsynonymous SNV R114L 0.014 0.008 0 4 17 3 0.01 0 0 0 0 0 Benign/Likely benign 28.2 44350 chr3 134670658 134670658 G A rs771145808 EPHB1 Nonsynonymous SNV R190H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 44351 chr7 156469133 156469133 C G rs2302147 RNF32 Nonsynonymous SNV H291Q 0.272 0.266 0.299 117 319 102 0.3 88 33 10 14 13 1.472 44352 chr15 43653305 43653305 C T rs137944091 ZSCAN29 Nonsynonymous SNV R842Q 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 23.1 44353 chr7 156469179 156469179 C T rs2302146 RNF32 Nonsynonymous SNV R307C 0.272 0.266 0.296 117 319 102 0.3 87 33 10 14 13 23.2 44354 chr3 193272449 193272454 GTGTGT - ATP13A4-AS1 0.056 0.063 0 23 66 24 0.059 0 0 0 0 0 44355 chr3 180334077 180334077 - A rs200353947 CCDC39 Frameshift insertion S888Ifs*6 0.008 0.016 0.02 7 9 6 0.018 6 0 0 0 0 44356 chr7 156742501 156742501 C G rs6969990 NOM1 Nonsynonymous SNV R24G 0.103 0.07 0.102 40 121 27 0.103 30 12 1 3 2 23.2 44357 chr7 156742749 156742749 G A rs6969196 NOM1 Synonymous SNV Q106Q 0.094 0.063 0.105 40 110 24 0.103 31 12 1 3 2 0.447 44358 chr3 13612020 13612020 T C rs3732667 FBLN2 Synonymous SNV C55C 0.124 0.099 0.156 51 146 38 0.131 46 17 2 4 2 0.003 44359 chr7 156742779 156742779 C A rs3750135 NOM1 Synonymous SNV A116A 0.025 0.029 0.037 15 29 11 0.038 11 0 2 0 0 15.58 44360 chr3 186915592 186915592 G A rs79843810 LOC101929106 0.055 0.047 0.027 26 65 18 0.067 8 3 0 0 0 5.203 44361 chr7 156742796 156742796 A C rs6952214 NOM1 Nonsynonymous SNV H122P 0.117 0.083 0.109 49 137 32 0.126 32 12 1 3 2 0.027 44362 chr7 156742965 156742965 G C rs61734937 NOM1 Synonymous SNV A178A 0.123 0.091 0.112 51 144 35 0.131 33 12 1 3 2 15.51 44363 chr7 156743264 156743264 C A rs61747373 NOM1 Nonsynonymous SNV A278E 0.119 0.091 0.109 49 140 35 0.126 32 12 1 3 2 0.286 44364 chr3 194081422 194081422 G A rs200944823 LRRC15 Synonymous SNV P117P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.273 44365 chr7 157261201 157261201 T G rs4716743 LOC101927914 0 0 0.837 0 0 0 0 246 0 0 105 0 0.449 44366 chr3 194081692 194081692 G A rs13090956 LRRC15 Synonymous SNV S27S 0.067 0.083 0.092 22 79 32 0.056 27 2 1 2 0 0.585 44367 chr3 194117590 194117590 G A rs78332923 GP5 Synonymous SNV G474G 0.027 0.021 0.02 8 32 8 0.021 6 0 1 0 0 6.111 44368 chr3 187088612 187088612 C T rs33927333 RTP4 Synonymous SNV S64S 0.166 0.13 0.18 33 195 50 0.085 53 16 3 3 0 8.529 44369 chr7 1574403 1574403 A G rs4720833 LOC100128653 0 0 0.582 0 0 0 0 171 0 0 47 0 1.67 44370 chr3 137743508 137743508 A T rs17204075 CLDN18 Nonsynonymous SNV M149L 0.078 0.083 0.082 26 91 32 0.067 24 4 2 2 1 12.17 44371 chr3 119133554 119133554 G A rs61740281 ARHGAP31 Synonymous SNV A926A 0.138 0.122 0.126 61 162 47 0.156 37 9 3 5 4 Benign 0.671 44372 chr7 158384306 158384309 TGTG - rs57838569 LINC01022, MIR5707 0 0 0.197 0 0 0 0 58 0 0 7 0 44373 chr3 137749839 137749839 A G rs16847742 CLDN18 Synonymous SNV S214S 0.084 0.094 0.085 27 99 36 0.069 25 5 2 2 1 5.33 44374 chr7 158384590 158384590 T C rs10277152 LINC01022 0 0 0.408 0 0 0 0 120 0 0 32 0 0.136 44375 chr7 158528233 158528233 A G rs3816462 ESYT2 Synonymous SNV S801S 0.156 0.161 0.184 43 183 62 0.11 54 16 8 2 3 0.086 44376 chr15 43820788 43820788 G A rs187665182 MAP1A Nonsynonymous SNV A2373T 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 0.106 44377 chr7 158534372 158534372 G A rs57686648 ESYT2 Synonymous SNV A649A 0.144 0.148 0.167 36 169 57 0.092 49 15 8 2 3 9.726 44378 chr7 158534381 158534381 G C rs59980573 ESYT2 Synonymous SNV P646P 0.151 0.159 0.173 38 177 61 0.097 51 16 8 2 3 0.089 44379 chr7 158536267 158536267 T C rs2305473 ESYT2 Nonsynonymous SNV S562G 0.155 0.161 0.18 41 182 62 0.105 53 16 8 2 3 14.34 44380 chr3 194379739 194379739 C A rs200655440 LSG1 Nonsynonymous SNV V236F 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.5 44381 chr15 44093762 44093762 - T HYPK Stop gain N79* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 44382 chr3 187419816 187419816 T C rs61754877 RTP2 Nonsynonymous SNV N34S 0.129 0.133 0.173 66 151 51 0.169 51 14 3 5 4 8.201 44383 chr7 158536334 158536334 G A rs2305474 ESYT2 Synonymous SNV N539N 0.062 0.068 0.095 22 73 26 0.056 28 3 0 1 2 7.87 44384 chr7 158536345 158536345 A G rs2305475 ESYT2 Nonsynonymous SNV S536P 0.154 0.156 0.18 41 181 60 0.105 53 16 7 2 3 23 44385 chr3 188326955 188326955 A G rs35417432 LPP Nonsynonymous SNV T146A 0.002 0 0.01 1 2 0 0.003 3 0 0 1 0 0.002 44386 chr3 195254683 195254683 T G rs539170906 PPP1R2 Nonsynonymous SNV K16Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.288 44387 chr15 45396354 45396354 C G rs139095108 DUOX2 Synonymous SNV L848L 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.421 44388 chr3 119526203 119526203 G A rs12721607 NR1I2 Nonsynonymous SNV G36R 0.011 0.008 0.007 7 13 3 0.018 2 0 0 0 1 24.4 44389 chr7 158672619 158672619 A G rs2788478 WDR60 Nonsynonymous SNV Q227R 0.434 0.438 0.405 166 509 168 0.426 119 109 43 19 36 Benign 0.002 44390 chr3 190039888 190039888 G A rs72466472 CLDN1 Synonymous SNV A36A 0.027 0.036 0.051 17 32 14 0.044 15 0 0 0 1 Benign 19.19 44391 chr15 45437272 45437272 C T rs77233266 DUOX1 Synonymous SNV F772F 0.01 0.008 0 5 12 3 0.013 0 0 0 0 0 17.46 44392 chr7 16640491 16640491 G A rs541797 ANKMY2 Synonymous SNV S407S 0.154 0.169 0.197 43 181 65 0.11 58 8 4 6 3 6.937 44393 chr7 1784381 1784381 C G ELFN1 Nonsynonymous SNV P50R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 44394 chr3 139258508 139258508 G A rs2071386 RBP1 Nonsynonymous SNV P18L 0.073 0.065 0.068 37 86 25 0.095 20 3 1 2 2 23.5 44395 chr7 17890030 17890030 A G rs200427962 SNX13 Synonymous SNV N335N 0.007 0 0.003 0 8 0 0 1 0 0 0 0 6.858 44396 chr3 196159338 196159338 T - rs148097302 UBXN7-AS1 0.095 0.107 0.017 37 112 41 0.095 5 8 4 0 0 44397 chr3 196234840 196234840 A G rs771876680 SMCO1 Nonsynonymous SNV V188A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.869 44398 chr15 45723029 45723032 AAGT - rs141818043 C15orf48 E12Afs*31 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 44399 chr3 193039597 193039597 G A rs61753889 ATP13A5 Synonymous SNV C596C 0.101 0.12 0.068 49 119 46 0.126 20 3 2 0 6 4.921 44400 chr16 1143496 1143496 C A rs150337362 C1QTNF8 0.015 0.021 0.031 13 18 8 0.033 9 0 0 0 1 0.002 44401 chr16 1143605 1143605 C A rs116934818 C1QTNF8 Nonsynonymous SNV V219L 0.02 0.031 0.058 15 24 12 0.038 17 0 0 0 1 23.6 44402 chr7 20824614 20824614 C T rs34908430 SP8 Synonymous SNV S274S 0.28 0.313 0.224 95 329 120 0.244 66 41 15 9 8 17.63 44403 chr16 1143870 1143870 G A rs117199949 C1QTNF8 Synonymous SNV S130S 0.018 0.029 0.054 14 21 11 0.036 16 0 0 0 1 9.011 44404 chr3 45814074 45814074 C T rs376476673 SLC6A20 Nonsynonymous SNV V206M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 34 44405 chr3 193272445 193272450 GTGTGT - ATP13A4-AS1 0.067 0.089 0 38 79 34 0.097 0 0 0 0 0 44406 chr16 1252013 1252013 C T CACNA1H Synonymous SNV H521H 0 0 0 0 0 0 0 0 0 0 0 0 2.585 44407 chr3 45814094 45814094 G A rs17279437 SLC6A20 Nonsynonymous SNV T199M 0.043 0.047 0.041 21 51 18 0.054 12 0 1 0 2 Benign/Likely benign 28.2 44408 chr3 140997320 140997320 C T rs11556022 PXYLP1 Synonymous SNV S72S 0.048 0.057 0.078 21 56 22 0.054 23 2 0 1 1 19.61 44409 chr3 183959508 183959508 A C rs28606531 VWA5B2 Synonymous SNV P919P 0.111 0.109 0.143 58 130 42 0.149 42 11 6 3 7 0.001 44410 chr3 14105886 14105897 CAGCAGCAGCCC - rs778679613 TPRXL 0.09 0.07 0.027 35 106 27 0.09 8 9 2 3 4 44411 chr3 141162128 141162128 C G rs62282002 ZBTB38 Nonsynonymous SNV P300A 0.056 0.091 0.061 23 66 35 0.059 18 1 3 0 0 0.142 44412 chr3 196674916 196674916 A C rs1147240 PIGZ Synonymous SNV A284A 0.414 0.422 0.452 153 486 162 0.392 133 104 31 26 28 0.002 44413 chr3 141162185 141162185 T G rs16851435 ZBTB38 Nonsynonymous SNV S319A 0.083 0.115 0.075 34 98 44 0.087 22 4 4 1 0 0.002 44414 chr3 183976241 183976241 A G rs6767237 EEF1AKMT4 Nonsynonymous SNV K216E 0.14 0.125 0.143 64 164 48 0.164 42 11 6 3 8 14.66 44415 chr7 21723431 21723431 G A rs55666134 DNAH11 Synonymous SNV L1830L 0.118 0.138 0.136 62 138 53 0.159 40 12 10 4 5 Benign/Likely benign 9.666 44416 chr3 184020542 184020542 G T rs11545169 PSMD2 Nonsynonymous SNV E183D 0.128 0.138 0.088 51 150 53 0.131 26 13 2 0 0 7.98 44417 chr3 142402912 142402912 C T PLS1 Nonsynonymous SNV A215V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 25.4 44418 chr3 19924058 19924058 G A rs76398910 EFHB Nonsynonymous SNV T771I 0.055 0.042 0.048 32 65 16 0.082 14 2 0 0 1 16.06 44419 chr3 46400062 46400062 G A rs3092960 CCR2 Synonymous SNV T348T 0.085 0.091 0.078 50 100 35 0.128 23 6 2 1 4 6.783 44420 chr7 21805202 21805202 A G rs72657373 DNAH11 Nonsynonymous SNV I3033V 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.36 44421 chr3 46414944 46414975 ACAGTCAGTATCAATTCTGGAAGAATTTCCAG - rs333 CCR5 S185Ifs*32 0.049 0.049 0.051 36 57 19 0.092 15 1 1 0 2 44422 chr3 46449864 46449864 G T rs6808835 CCRL2 Synonymous SNV G110G 0.088 0.091 0.078 49 103 35 0.126 23 7 2 1 4 0.981 44423 chr3 19930130 19930130 A T rs76305623 EFHB Nonsynonymous SNV M580K 0.152 0.128 0.126 60 178 49 0.154 37 11 2 1 6 10.74 44424 chr7 21901540 21901540 T C rs17145720 DNAH11 Nonsynonymous SNV S3758P 0.038 0.049 0.058 15 45 19 0.038 17 1 1 1 1 Benign/Likely benign 12.13 44425 chr16 1388909 1388909 C T rs77633104 BAIAP3 Synonymous SNV P46P 0.031 0.01 0.027 16 36 4 0.041 8 3 0 1 0 7.13 44426 chr3 46450072 46450072 G A rs6441977 CCRL2 Nonsynonymous SNV V180M 0.086 0.089 0.078 49 101 34 0.126 23 7 2 1 4 0.028 44427 chr3 197444884 197444884 C T rs377234121 RUBCN Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 44428 chr15 50905971 50905971 C G TRPM7 Nonsynonymous SNV R568T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 44429 chr3 19961331 19961331 T C rs2929362 EFHB Synonymous SNV S330S 0.168 0.156 0.146 68 197 60 0.174 43 13 6 1 5 0.613 44430 chr3 20027232 20027232 G T rs2127957 PP2D1 Synonymous SNV I511I 0.074 0.068 0.082 32 87 26 0.082 24 5 0 1 1 3.254 44431 chr3 197579466 197579466 C T rs36078463 LRCH3 Nonsynonymous SNV P522L 0.067 0.065 0.085 36 79 25 0.092 25 7 1 2 1 6.137 44432 chr7 2290328 2290328 C T rs10230814 NUDT1 Nonsynonymous SNV S117L 0 0 0.537 0 0 0 0 158 0 0 59 0 2.962 44433 chr3 145913061 145913061 G T rs34467190 PLSCR4 Synonymous SNV S160S 0.029 0.026 0.027 12 34 10 0.031 8 1 0 0 0 0.569 44434 chr7 23018026 23018026 G A rs376071667 FAM126A Synonymous SNV R65R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.339 44435 chr3 46712490 46712490 G A rs77367607 ALS2CL Nonsynonymous SNV S949F 0.04 0.031 0.051 13 47 12 0.033 15 1 1 1 0 12.93 44436 chr3 122003757 122003757 G T rs1801725 CASR Nonsynonymous SNV A986S 0.228 0.227 0.207 102 268 87 0.262 61 32 9 8 13 Benign 13.7 44437 chr3 46723551 46723551 G A rs4683310 ALS2CL Synonymous SNV H381H 0.341 0.359 0.374 144 400 138 0.369 110 67 27 22 29 6.594 44438 chr7 23357321 23357321 C T rs156414 IGF2BP3 Synonymous SNV A444A 0.428 0.344 0.412 134 503 132 0.344 121 111 20 27 23 17.91 44439 chr7 2406051 2406051 C T rs144904326 EIF3B Synonymous SNV H419H 0.016 0.016 0.01 7 19 6 0.018 3 0 1 0 0 Benign 14.47 44440 chr3 46775322 46775322 A G rs12489661 PRSS46P 0.178 0.164 0.177 77 209 63 0.197 52 17 5 4 8 0.863 44441 chr3 46775383 46775383 A G rs12489663 PRSS46P 0.178 0.164 0.18 77 209 63 0.197 53 17 5 4 8 6.005 44442 chr3 46775608 46775608 A G rs68175547 PRSS46P 0.178 0.164 0.18 77 209 63 0.197 53 17 5 4 8 0.005 44443 chr3 46777881 46777881 C G rs6793535 PRSS46P 0.18 0.159 0.18 77 211 61 0.197 53 19 5 4 8 8.011 44444 chr3 46777885 46777885 T C rs6808303 PRSS46P 0.18 0.159 0.18 77 211 61 0.197 53 19 5 4 8 2.846 44445 chr3 148577674 148577674 G A rs144356818 CPB1 Nonsynonymous SNV R380Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 31 44446 chr3 2928874 2928874 G C rs141461698 CNTN4 Synonymous SNV G302G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 5.595 44447 chr7 2577781 2577781 T C rs1043291 BRAT1 Synonymous SNV E621E 0.353 0.365 0.282 115 415 140 0.295 83 74 25 13 15 Benign 0.033 44448 chr3 148714197 148714197 G A rs747087827 GYG1 Synonymous SNV L84L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.33 44449 chr7 2578237 2578237 T C rs4719552 BRAT1 Synonymous SNV R469R 0.353 0.365 0.286 114 414 140 0.292 84 74 25 13 15 Benign 0.31 44450 chr3 27338698 27338698 T C rs141057699 NEK10 Nonsynonymous SNV N401S 0.014 0.023 0.027 4 17 9 0.01 8 0 0 1 0 Benign 20.6 44451 chr3 148757864 148757864 C T rs2229361 HLTF Nonsynonymous SNV R818H 0.026 0.023 0.027 14 30 9 0.036 8 0 0 0 0 12.71 44452 chr7 2578238 2578238 C T rs4719553 BRAT1 Nonsynonymous SNV R469Q 0.146 0.141 0.085 45 171 54 0.115 25 12 7 0 2 11.81 44453 chr3 47038054 47038054 G A rs116456978 NBEAL2 Synonymous SNV A781A 0.043 0.049 0.044 23 50 19 0.059 13 1 3 0 0 Likely benign 4.583 44454 chr7 2578434 2578434 G T rs4721763 BRAT1 Nonsynonymous SNV P639T 0.348 0.362 0.282 114 409 139 0.292 83 73 25 13 15 3.231 44455 chr7 2578455 2578455 G A rs4721764 BRAT1 Nonsynonymous SNV R632W 0.194 0.193 0.16 61 228 74 0.156 47 25 10 4 3 1.145 44456 chr7 2583328 2583328 C T rs61753095 BRAT1 Synonymous SNV T58T 0.193 0.193 0.156 61 227 74 0.156 46 25 10 4 3 Benign 12.03 44457 chr3 3082003 3082003 T A rs339283 CNTN4-AS1 0.155 0.133 0.116 55 182 51 0.141 34 15 4 0 6 7.46 44458 chr3 3067850 3067850 A G rs7629924 CNTN4 Synonymous SNV L189L 0.189 0.198 0.163 81 222 76 0.208 48 23 9 4 9 1.88 44459 chr7 2613062 2613062 T C rs61739566 IQCE Synonymous SNV P70P 0.089 0.086 0.088 30 105 33 0.077 26 3 1 2 1 3.756 44460 chr3 3067853 3067853 G A rs7639977 CNTN4 Synonymous SNV P190P 0.188 0.198 0.163 81 221 76 0.208 48 23 9 4 9 11.19 44461 chr7 2617938 2617938 G C rs199510266 IQCE Nonsynonymous SNV E111D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.5 44462 chr7 2644519 2644519 C T rs2293404 IQCE Nonsynonymous SNV A481V 0.295 0.289 0.289 129 346 111 0.331 85 52 15 14 22 23.5 44463 chr7 2644607 2644607 G T rs2293405 IQCE Synonymous SNV V510V 0.179 0.182 0.139 64 210 70 0.164 41 17 7 7 5 0.872 44464 chr3 196098796 196098796 T C rs61742253 UBXN7 Nonsynonymous SNV I196V 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 13.54 44465 chr7 2645552 2645552 A G rs2293407 IQCE Nonsynonymous SNV T531A 0.295 0.289 0.265 130 346 111 0.333 78 52 15 14 22 0.03 44466 chr3 31725478 31725478 G A rs17027957 OSBPL10 Synonymous SNV F394F 0.018 0.016 0.01 12 21 6 0.031 3 0 1 0 0 13.57 44467 chr7 2646796 2646796 G A rs61729413 IQCE Nonsynonymous SNV R570K 0.177 0.182 0.143 64 208 70 0.164 42 17 7 8 5 0.002 44468 chr16 1774626 1774626 C T rs35459652 MAPK8IP3 Synonymous SNV Y129Y 0.041 0.029 0.017 12 48 11 0.031 5 0 0 0 0 4.92 44469 chr3 31705649 31705649 C T rs2305610 OSBPL10 Synonymous SNV L660L 0.037 0.031 0.054 15 43 12 0.038 16 0 0 0 0 14.54 44470 chr7 2649704 2649704 T G rs3735109 IQCE Nonsynonymous SNV L601V 0.376 0.365 0.357 157 441 140 0.403 105 82 22 23 33 0.002 44471 chr3 3192669 3192669 C T rs116847323 CRBN Synonymous SNV T402T 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 Benign 17.34 44472 chr7 26678856 26678856 A G rs57000259 LINC02860 0.262 0.258 0.316 99 308 99 0.254 93 40 11 18 12 0.046 44473 chr3 3215901 3215901 G A rs1045309 CRBN Synonymous SNV H72H 0.008 0.018 0.01 1 9 7 0.003 3 0 0 0 0 Benign 9.993 44474 chr7 26685934 26685934 T C rs12671270 LINC02860 0.261 0.268 0.296 99 306 103 0.254 87 40 14 15 12 0.012 44475 chr3 123451932 123451932 G A rs35156360 MYLK Nonsynonymous SNV P267S 0.017 0.016 0.024 9 20 6 0.023 7 0 1 0 0 Benign/Likely benign 22.8 44476 chr3 31725196 31725196 G A rs17849744 OSBPL10 Synonymous SNV C488C 0.036 0.029 0.041 15 42 11 0.038 12 0 0 0 0 11.35 44477 chr7 27169934 27169934 A G rs10251056 HOXA4 Nonsynonymous SNV L140P 0.498 0.469 0.806 200 585 180 0.513 237 289 90 116 99 10.97 44478 chr3 150421660 150421660 C T ERICH6 Nonsynonymous SNV G9D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.2 44479 chr3 124044859 124044859 C T rs16835275 KALRN Synonymous SNV S373S 0.014 0.026 0.007 4 16 10 0.01 2 2 0 0 0 14.34 44480 chr16 1838703 1838703 G A rs11540961 NUBP2 Nonsynonymous SNV V120M 0.108 0.089 0.092 41 127 34 0.105 27 6 2 1 0 2.036 44481 chr3 186570892 186570892 T G rs2241766 ADIPOQ Synonymous SNV G15G 0.191 0.185 0.173 73 224 71 0.187 51 22 11 7 11 4.048 44482 chr7 27228666 27228666 C - rs3214167 HOXA11-AS 0 0 0.946 0 0 0 0 278 0 0 132 0 44483 chr7 27827103 27827103 T A rs11540483 TAX1BP1 Nonsynonymous SNV L150I 0.134 0.185 0.163 60 157 71 0.154 48 8 5 4 5 21.9 44484 chr3 32533220 32533220 G A CMTM6 Synonymous SNV T99T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.224 44485 chr3 48419957 48419957 A G rs112908035 FBXW12 Nonsynonymous SNV M167V 0.015 0.013 0.027 9 18 5 0.023 8 2 0 0 0 0.002 44486 chr7 286468 286468 - GACAGGTGAGCCCTTCCTTCCTCCCTCCATCCGC rs771282640 FAM20C Stop gain I320* 0.247 0.305 0.35 101 290 117 0.259 103 72 32 14 23 44487 chr3 197579476 197579476 T C rs746084504 LRCH3 Synonymous SNV D525D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 44488 chr3 48488192 48488192 G C rs72622933 ATRIP-TREX1 0.079 0.112 0.126 28 93 43 0.072 37 9 8 5 1 4.946 44489 chr7 29186256 29186256 A G rs245880 CHN2 Synonymous SNV P19P 0.373 0.367 0.378 162 438 141 0.415 111 86 32 23 34 4.986 44490 chr3 361508 361508 C T rs2272522 CHL1 Nonsynonymous SNV L17F 0.182 0.193 0.187 72 214 74 0.185 55 23 7 4 8 0.003 44491 chr3 48680470 48680470 C T rs112843572 CELSR3 Nonsynonymous SNV R2779Q 0.015 0.016 0.017 4 18 6 0.01 5 1 1 0 0 24 44492 chr3 151155758 151155758 A C rs9864533 IGSF10 Synonymous SNV S224S 0.083 0.076 0.054 32 97 29 0.082 16 10 3 1 2 0.001 44493 chr3 187447701 187447701 C A rs61752081 BCL6 Nonsynonymous SNV E164D 0.037 0.021 0.01 13 44 8 0.033 3 1 0 0 1 not provided 12.5 44494 chr3 155199533 155199533 C G PLCH1 Nonsynonymous SNV A1428P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 44495 chr7 297023 297023 G A rs140970872 FAM20C Synonymous SNV T472T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 14.76 44496 chr3 36880199 36880199 G A rs181407408 TRANK1 Synonymous SNV A1719A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.58 44497 chr7 2976767 2976767 G A rs6945582 CARD11 Synonymous SNV D415D 0.139 0.138 0.129 71 163 53 0.182 38 13 3 2 6 Benign 12.29 44498 chr3 33467112 33467112 G A rs61751640 UBP1 Nonsynonymous SNV H79Y 0.003 0.01 0 0 4 4 0 0 0 0 0 0 22.2 44499 chr7 2985586 2985586 C G rs10229368 CARD11 Synonymous SNV R75R 0.007 0.008 0.014 6 8 3 0.015 4 0 0 0 0 Benign 7.208 44500 chr3 33543195 33543195 C T rs111990025 CLASP2 Synonymous SNV A1249A 0.012 0.018 0.024 2 14 7 0.005 7 0 0 0 0 14.8 44501 chr7 299872 299872 G A rs145750007 FAM20C Nonsynonymous SNV V561M 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign/Likely benign 23.5 44502 chr3 151162718 151162718 C G rs149854696 IGSF10 Nonsynonymous SNV R1684T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 27.3 44503 chr3 27233606 27233606 G A rs373926434 NEK10 Nonsynonymous SNV R119W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 33 44504 chr16 2042139 2042139 C A rs12922682 SYNGR3 Synonymous SNV L88L 0.018 0.013 0.034 7 21 5 0.018 10 0 0 0 0 15.31 44505 chr3 49318208 49318208 G A rs144923418 USP4 Synonymous SNV S824S 0.028 0.021 0.048 17 33 8 0.044 14 0 0 0 0 12.41 44506 chr3 125271500 125271500 T C rs78044171 OSBPL11 Synonymous SNV L393L 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 3.858 44507 chr3 157160491 157160491 C T rs35415718 PTX3 Nonsynonymous SNV A290V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.113 44508 chr3 12544829 12544829 G A rs33955793 TSEN2 Nonsynonymous SNV R126H 0.033 0.034 0.02 18 39 13 0.046 6 0 0 0 0 Benign 0.14 44509 chr3 49456758 49456758 C T rs116192290 AMT Nonsynonymous SNV E167K 0.028 0.018 0.041 17 33 7 0.044 12 0 0 0 0 Conflicting interpretations of pathogenicity 19.12 44510 chr3 37536056 37536056 C T rs2507941 ITGA9 Synonymous SNV T203T 0.037 0.057 0.078 16 44 22 0.041 23 1 0 1 0 Benign 15.24 44511 chr3 49662654 49662654 C T rs150855300 BSN Synonymous SNV S157S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.91 44512 chr3 49680280 49680280 G A rs745888911 BSN Nonsynonymous SNV G405R 0.006 0 0 2 7 0 0.005 0 0 0 0 0 7.222 44513 chr3 15298568 15298568 A G rs368200757 SH3BP5 Synonymous SNV D157D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.49 44514 chr16 2144166 2144166 C T rs760072134 PKD1 Synonymous SNV R3514R 0 0 0 0 0 0 0 0 0 0 0 0 8.224 44515 chr3 125831684 125831684 T G rs779172865 ALDH1L1 Nonsynonymous SNV I607L 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 29.3 44516 chr3 15373858 15373858 C T rs115738660 SH3BP5 Nonsynonymous SNV A20T 0.055 0.052 0.051 14 64 20 0.036 15 2 0 0 0 10.6 44517 chr3 37523079 37523079 G A rs17227748 ITGA9 Synonymous SNV T175T 0.137 0.156 0.173 56 161 60 0.144 51 10 5 8 5 13.84 44518 chr3 193081962 193081962 C - rs148224926 ATP13A5 Stop gain W57* 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 44519 chr3 193171979 193171979 T A rs35424709 ATP13A4 Nonsynonymous SNV E646D 0.08 0.117 0.085 21 94 45 0.054 25 1 5 0 1 25 44520 chr16 2287423 2287423 G A rs762239650 DNASE1L2 Nonsynonymous SNV E122K 0 0 0 0 0 0 0 0 0 0 0 0 17.31 44521 chr3 38051941 38051941 T C rs9857730 PLCD1 Synonymous SNV P322P 0.245 0.234 0.221 90 288 90 0.231 65 36 9 8 7 0.06 44522 chr3 38052804 38052804 C T rs61755441 PLCD1 Nonsynonymous SNV D252N 0.076 0.078 0.051 27 89 30 0.069 15 4 2 1 1 21.2 44523 chr16 2347352 2347352 C T rs148046277 ABCA3 Synonymous SNV S747S 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 9.298 44524 chr7 31920395 31920395 G A rs61729940 PDE1C Synonymous SNV A69A 0.125 0.117 0.122 39 147 45 0.1 36 6 1 0 0 11.93 44525 chr3 38061748 38061748 A G rs61751648 PLCD1 Synonymous SNV L65L 0.072 0.068 0.061 24 84 26 0.062 18 2 1 0 1 0.432 44526 chr3 156570680 156570680 G A rs62273959 LEKR1 Nonsynonymous SNV V58I 0.01 0.016 0.027 5 12 6 0.013 8 0 0 0 0 21.5 44527 chr3 38139089 38139089 G A rs17731258 DLEC1 Synonymous SNV S842S 0.021 0.021 0.037 7 25 8 0.018 11 0 0 1 0 11.02 44528 chr7 32909182 32909182 G A rs752730 KBTBD2 Synonymous SNV Y549Y 0.198 0.206 0.194 68 232 79 0.174 57 16 7 5 1 1.199 44529 chr7 32961023 32961023 A G rs2893440 RP9P 0 0 0.833 0 0 0 0 245 0 0 103 0 15.86 44530 chr3 50137557 50137595 GATTCCCCCAGTCTTCAAGCACATGAATTCAGAATGAAA - rs562277672 RBM5-AS1 0.028 0.018 0.034 17 33 7 0.044 10 0 0 0 0 44531 chr3 3887508 3887508 C G rs35362954 LRRN1 Nonsynonymous SNV L395V 0.039 0.044 0.044 17 46 17 0.044 13 1 1 0 0 0.12 44532 chr7 35414453 35414453 T C rs17608167 LOC401324 0 0 0.361 0 0 0 0 106 0 0 19 0 0.777 44533 chr7 35414769 35414769 C T rs2553113 LOC401324 0 0 0.626 0 0 0 0 184 0 0 58 0 9.102 44534 chr7 35414772 35414772 C T rs2553114 LOC401324 0 0 0.626 0 0 0 0 184 0 0 58 0 15.35 44535 chr16 3014990 3014990 C A rs62032326 KREMEN2 Nonsynonymous SNV S75R 0.017 0.031 0.017 6 20 12 0.015 5 0 0 0 0 23.1 44536 chr3 5024771 5024771 T C rs908078 BHLHE40 Synonymous SNV G211G 0.167 0.164 0.194 55 196 63 0.141 57 18 2 6 3 0.02 44537 chr3 194325058 194325058 G A rs61739645 TMEM44 Nonsynonymous SNV P377L 0.049 0.055 0.044 21 58 21 0.054 13 1 1 0 1 17.51 44538 chr16 3014999 3014999 C G rs62032327 KREMEN2 Nonsynonymous SNV H78Q 0.019 0.031 0.031 6 22 12 0.015 9 0 0 0 0 1.323 44539 chr3 127540635 127540635 C T rs11538698 MGLL Synonymous SNV R9R 0.041 0.039 0.034 10 48 15 0.026 10 0 1 0 0 14.83 44540 chr3 160083918 160083918 C T rs34182424 IFT80 Synonymous SNV A17A 0.033 0.01 0.014 20 39 4 0.051 4 2 0 0 0 Benign 16.13 44541 chr16 3017854 3017854 G C rs11866302 KREMEN2 Nonsynonymous SNV A369P 0.017 0.023 0.024 5 20 9 0.013 7 0 0 0 0 0.014 44542 chr7 36656035 36656035 G C rs3735386 AOAH Nonsynonymous SNV A234G 0.15 0.135 0.15 63 176 52 0.162 44 14 3 4 4 28 44543 chr16 3050453 3050453 A G rs116975776 LOC101929613 0.015 0.026 0 6 18 10 0.015 0 0 0 0 0 0.093 44544 chr3 165548477 165548477 G A BCHE Synonymous SNV D115D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.832 44545 chr16 3063585 3063585 G A rs151129127 CLDN9 Synonymous SNV P74P 0.003 0.005 0.024 1 4 2 0.003 7 0 0 0 0 2.001 44546 chr7 36763688 36763688 C T rs2228411 AOAH Synonymous SNV S22S 0.323 0.323 0.276 127 379 124 0.326 81 65 19 9 26 14.89 44547 chr16 3085574 3085574 C G rs58816873 LOC100128770 0.003 0.005 0.017 1 4 2 0.003 5 0 0 0 0 5.376 44548 chr7 36895342 36895342 C T rs13246439 ELMO1 Synonymous SNV T186T 0.129 0.107 0.109 42 151 41 0.108 32 10 2 2 4 11.63 44549 chr3 128369632 128369632 T G rs541051957 RPN1 Synonymous SNV P4P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 4.959 44550 chr3 36872587 36872587 C T rs17035654 TRANK1 Synonymous SNV R2785R 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 14.86 44551 chr16 3100342 3100342 G A rs141989362 MMP25 Synonymous SNV E152E 0.003 0.003 0.017 1 3 1 0.003 5 0 0 0 0 1.631 44552 chr3 39228676 39228676 T G rs62244166 XIRP1 Nonsynonymous SNV Q754P 0.041 0.042 0.034 15 48 16 0.038 10 1 1 0 0 10.05 44553 chr3 36873229 36873229 C T rs9877706 TRANK1 Synonymous SNV V2571V 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 12.26 44554 chr7 37780799 37780799 C A rs61729279 GPR141 Synonymous SNV I268I 0.055 0.052 0.048 19 65 20 0.049 14 2 1 0 0 19.31 44555 chr16 3139310 3139310 G C rs61732498 ZSCAN10 Nonsynonymous SNV L315V 0.026 0.031 0.041 14 30 12 0.036 12 0 0 0 0 18.12 44556 chr3 37033462 37033462 T G rs4647200 EPM2AIP1 Synonymous SNV T369T 0.031 0.026 0.017 18 36 10 0.046 5 1 0 0 0 0.849 44557 chr3 195456561 195456561 C G rs3762739 MUC20 Nonsynonymous SNV S671C 0.179 0.195 0.153 76 210 75 0.195 45 0 0 0 0 22.9 44558 chr3 3886656 3886656 A G rs756313886 LRRN1 Nonsynonymous SNV K111E 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 3.103 44559 chr7 38725804 38725804 C T rs11980087 FAM183BP 0 0 0.548 0 0 0 0 161 0 0 42 0 7.316 44560 chr7 38726473 38726473 T C rs17508140 FAM183BP 0 0 0.197 0 0 0 0 58 0 0 2 0 0.706 44561 chr7 38908759 38908759 G C rs147210031 VPS41 Nonsynonymous SNV T52R 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 28.8 44562 chr7 39472708 39472708 A G rs2302123 POU6F2 Synonymous SNV P382P 0.244 0.224 0.31 78 287 86 0.2 91 34 13 14 10 0.542 44563 chr3 52027853 52027853 - CCTTGG rs71084167 RPL29 K130_D131insAK 0.255 0.242 0.024 90 299 93 0.231 7 64 14 3 13 44564 chr3 52089939 52089939 G A rs371660097 DUSP7 Synonymous SNV G148G 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 14.34 44565 chr3 167217960 167217960 C T rs13061106 WDR49 Synonymous SNV E652E 0.106 0.099 0.102 31 124 38 0.079 30 5 2 3 3 6.336 44566 chr7 39472846 39472846 G A rs2302122 POU6F2 Synonymous SNV Q428Q 0.242 0.221 0.303 77 284 85 0.197 89 33 13 13 10 8.81 44567 chr3 52233444 52233444 C T rs752999300 ALAS1 Nonsynonymous SNV P63S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.191 44568 chr3 40457421 40457421 G A rs144633113 ENTPD3 Nonsynonymous SNV V230M 0.014 0.016 0 1 16 6 0.003 0 0 0 0 0 23.2 44569 chr3 40528816 40528816 A G rs74898403 ZNF619 Nonsynonymous SNV N228S 0.014 0.016 0.003 1 16 6 0.003 1 0 0 0 0 10.22 44570 chr3 195516305 195516305 C T rs3749331 MUC4 Nonsynonymous SNV A716T 0.193 0.198 0.16 72 226 76 0.185 47 24 4 4 5 0.038 44571 chr3 40529117 40529117 T C rs150749021 ZNF619 Synonymous SNV Y328Y 0.014 0.016 0 1 16 6 0.003 0 0 0 0 0 1.561 44572 chr7 4167326 4167326 A G rs73048324 LOC105375131 0 0 0.024 0 0 0 0 7 0 0 0 0 4.03 44573 chr7 4167336 4167336 T C rs651245 LOC105375131 0 0 0.578 0 0 0 0 170 0 0 51 0 0.962 44574 chr7 4169449 4169449 C G rs78693141 LOC105375131 0.004 0.01 0.017 4 5 4 0.01 5 0 0 0 0 4.917 44575 chr3 38168125 38168125 A C rs61095322 ACAA1 Nonsynonymous SNV H198Q 0.055 0.063 0.058 22 65 24 0.056 17 2 0 1 0 0.024 44576 chr3 195517124 195517124 G A rs1806440 MUC4 Synonymous SNV L443L 0.189 0.193 0.163 69 222 74 0.177 48 23 3 5 4 0.584 44577 chr3 52437853 52437853 T C rs202038162 BAP1 Synonymous SNV Q436Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 0.013 44578 chr3 38170810 38170810 C G rs156265 ACAA1 Nonsynonymous SNV E172D 0.074 0.086 0.061 41 87 33 0.105 18 4 0 0 2 13.03 44579 chr3 38271881 38271881 C T rs6599079 OXSR1 Nonsynonymous SNV T304I 0.129 0.154 0.068 57 152 59 0.146 20 10 4 3 5 22.5 44580 chr7 4218155 4218155 G A rs141831391 SDK1 Nonsynonymous SNV A166T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.2 44581 chr16 3614540 3614540 C T rs201854363 NLRC3 Nonsynonymous SNV R133Q 0.004 0 0.007 0 5 0 0 2 0 0 0 0 22.2 44582 chr3 38347633 38347633 G A rs34043027 SLC22A14 Nonsynonymous SNV R39H 0.051 0.065 0.058 26 60 25 0.067 17 3 0 1 0 0.122 44583 chr3 52521380 52521380 T C rs61737029 NISCH Synonymous SNV A624A 0.01 0.01 0.007 4 12 4 0.01 2 0 0 0 0 Benign 0.004 44584 chr3 38347851 38347851 A G rs2073714 SLC22A14 Nonsynonymous SNV K112E 0.051 0.065 0.058 26 60 25 0.067 17 3 0 1 0 0.002 44585 chr3 52521920 52521920 C T rs17052200 NISCH Synonymous SNV H804H 0.02 0.018 0.024 12 24 7 0.031 7 0 0 0 1 2.006 44586 chr3 195609099 195609099 G A rs769698485 TNK2 Nonsynonymous SNV A261V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 44587 chr3 130098349 130098349 G A rs16845861 COL6A5 Synonymous SNV R252R 0.214 0.221 0.204 88 251 85 0.226 60 25 10 5 10 2.838 44588 chr7 4304929 4304929 C T rs148193946 SDK1 Synonymous SNV V2185V 0.032 0.031 0.034 17 38 12 0.044 10 1 0 0 1 8.891 44589 chr3 130103709 130103709 G A rs1453241 COL6A5 Nonsynonymous SNV E455K 0.214 0.224 0.204 88 251 86 0.226 60 25 10 5 10 0.105 44590 chr3 19574984 19574984 G A rs780882436 KCNH8 Nonsynonymous SNV R906Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.104 44591 chr7 43483981 43483981 G C rs61756574 HECW1 Nonsynonymous SNV G404R 0.221 0.206 0.211 64 259 79 0.164 62 21 4 9 2 4.518 44592 chr3 52540773 52540773 T C rs1010553 STAB1 Synonymous SNV G632G 0.483 0.492 0.483 174 567 189 0.446 142 146 51 37 40 0.362 44593 chr3 130104062 130104062 T C rs10212241 COL6A5 Synonymous SNV T572T 0.217 0.229 0.207 91 255 88 0.233 61 25 10 5 11 0.011 44594 chr3 130104206 130104206 A G rs10212372 COL6A5 Synonymous SNV K620K 0.196 0.211 0.184 81 230 81 0.208 54 25 10 5 9 8.061 44595 chr15 65703646 65703646 C T rs142198652 IGDCC4 Nonsynonymous SNV V45M 0.015 0.018 0 4 18 7 0.01 0 0 0 0 0 24.4 44596 chr7 43540887 43540887 A C rs17339479 HECW1 Synonymous SNV R1165R 0.246 0.219 0.241 76 289 84 0.195 71 29 5 13 4 6.152 44597 chr3 130110550 130110550 A G rs11917356 COL6A5 Nonsynonymous SNV D982G 0.191 0.18 0.16 76 224 69 0.195 47 23 9 1 6 8.764 44598 chr3 169099077 169099077 T C rs146552560 MECOM Synonymous SNV G91G 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 4.687 44599 chr7 43548516 43548516 C T rs2304323 LUARIS 0.19 0.167 0.184 64 223 64 0.164 54 25 4 9 4 8.48 44600 chr3 16926540 16926540 T - rs587725102 PLCL2 0.039 0.031 0.422 14 46 12 0.036 124 23 6 62 7 44601 chr7 43548857 43548857 T C rs9639877 LUARIS 0 0 0.248 0 0 0 0 73 0 0 12 0 3.117 44602 chr3 16926562 16926562 T - rs587743656 PLCL2 0.055 0.052 0.503 24 64 20 0.062 148 32 10 74 12 44603 chr3 170724955 170724955 C T rs5404 SLC2A2 Synonymous SNV T79T 0.124 0.146 0.139 37 146 56 0.095 41 11 2 1 3 Benign 14.15 44604 chr7 43840111 43840111 G A rs149777705 BLVRA Nonsynonymous SNV A134T 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 22 44605 chr3 170732300 170732300 G A rs5400 SLC2A2 Nonsynonymous SNV T110I 0.138 0.172 0.173 51 162 66 0.131 51 14 4 1 3 Benign 13.43 44606 chr7 43916491 43916491 G A rs2232109 URGCP Synonymous SNV D848D 0.17 0.161 0.173 61 200 62 0.156 51 13 4 5 5 3.887 44607 chr15 66625470 66625470 G A rs3759785 DIS3L Synonymous SNV E869E 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 5.228 44608 chr3 196613022 196613022 C G rs139439455 SENP5 Nonsynonymous SNV P324A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.33 44609 chr3 170425956 170425956 G C rs495979 SLC7A14-AS1 0.12 0.112 0.109 50 141 43 0.128 32 9 2 0 5 0.823 44610 chr3 42265166 42265166 T C rs12487911 TRAK1 Synonymous SNV P838P 0.086 0.065 0.048 36 101 25 0.092 14 7 1 0 3 0.007 44611 chr15 66641732 66641732 G C rs2063690 TIPIN Nonsynonymous SNV A10G 0.07 0.057 0.061 25 82 22 0.064 18 3 0 1 0 24.3 44612 chr3 172835082 172835082 C T rs16846616 SPATA16 Nonsynonymous SNV G147E 0.095 0.078 0.153 57 112 30 0.146 45 10 0 3 2 Benign 23.8 44613 chr7 44163129 44163129 C G rs3217946 POLD2 Synonymous SNV A10A 0.024 0.013 0.02 6 28 5 0.015 6 0 0 0 0 20.7 44614 chr3 172835125 172835125 T C rs1515442 SPATA16 Nonsynonymous SNV M133V 0.222 0.219 0.265 103 261 84 0.264 78 31 11 10 13 Benign 3.661 44615 chr7 44266184 44266184 C T rs35452727 CAMK2B Nonsynonymous SNV E510K 0.043 0.036 0.058 18 50 14 0.046 17 2 0 1 0 17.97 44616 chr3 172835290 172835290 C T rs1515441 SPATA16 Nonsynonymous SNV E78K 0.123 0.102 0.167 68 144 39 0.174 49 12 0 5 5 Benign 24.2 44617 chr3 197432036 197432036 C T rs61743568 RUBCN Nonsynonymous SNV R17H 0.089 0.109 0.085 38 105 42 0.097 25 3 4 0 1 Likely benign 22.8 44618 chr3 42700697 42700699 GAG - rs767449022 ZBTB47 E294del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 44619 chr3 42700717 42700717 A G rs72864072 ZBTB47 Synonymous SNV E290E 0.08 0.091 0.088 27 94 35 0.069 26 7 1 1 1 0.004 44620 chr3 39145016 39145016 G A rs140965034 GORASP1 Nonsynonymous SNV A31V 0.021 0.008 0.003 3 25 3 0.008 1 2 0 0 0 Likely benign 28.5 44621 chr3 52833032 52833032 C G rs199503739 ITIH3 Synonymous SNV T238T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.63 44622 chr3 43095112 43095112 G A rs184462308 GASK1A Nonsynonymous SNV E464K 0.02 0.018 0.014 7 23 7 0.018 4 0 0 0 0 29.1 44623 chr3 172061944 172061944 G A rs371384228 FNDC3B Nonsynonymous SNV V716I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.54 44624 chr3 197659160 197659160 C G rs67877771 IQCG Nonsynonymous SNV D177H 0.152 0.161 0.17 56 178 62 0.144 50 12 8 5 3 26.2 44625 chr16 4827829 4827829 C T rs773794575 SEPTIN12 Nonsynonymous SNV G303E 0 0 0 0 0 0 0 0 0 0 0 0 0.225 44626 chr3 52834608 52834608 G A rs146731697 ITIH3 Nonsynonymous SNV R377Q 0.016 0.016 0.024 13 19 6 0.033 7 0 0 0 1 17.44 44627 chr3 197665599 197665599 G T rs9880989 IQCG Nonsynonymous SNV A112D 0.152 0.161 0.17 56 178 62 0.144 50 12 8 5 3 0.021 44628 chr3 43121436 43121436 G A rs35207939 POMGNT2 Synonymous SNV G496G 0.016 0.01 0.003 4 19 4 0.01 1 0 0 0 0 Benign 0.611 44629 chr3 42781276 42781276 G T rs62246603 CCDC13 Synonymous SNV L338L 0.252 0.258 0.289 103 296 99 0.264 85 44 13 9 18 3.247 44630 chr3 197687252 197687252 A C rs114780577 LMLN Nonsynonymous SNV T54P 0.009 0.005 0.007 5 10 2 0.013 2 0 0 0 0 0.259 44631 chr3 42799765 42799765 G A rs17238798 CCDC13 Nonsynonymous SNV R25W 0.255 0.263 0.262 105 299 101 0.269 77 41 15 9 19 24.8 44632 chr3 178921471 178921471 T C PIK3CA Nonsynonymous SNV M318T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 12.39 44633 chr3 197748355 197748355 G A rs35267865 LMLN Synonymous SNV L468L 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 11.69 44634 chr3 52860816 52860816 C T rs2276816 ITIH4 Synonymous SNV K170K 0.078 0.06 0.078 30 91 23 0.077 23 2 0 1 0 14.38 44635 chr3 17447927 17447927 G A rs753912019 TBC1D5 Nonsynonymous SNV R87C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 44636 chr3 4354697 4354697 G A rs6801634 SETMAR Nonsynonymous SNV R91H 0.217 0.214 0.197 83 255 82 0.213 58 25 10 9 9 12.34 44637 chr3 178927410 178927410 A G rs2230461 PIK3CA Nonsynonymous SNV I391M 0.124 0.151 0.139 41 145 58 0.105 41 11 1 1 3 Benign 10.19 44638 chr3 19930003 19930003 G A rs4858714 EFHB Synonymous SNV F622F 0.127 0.135 0.16 52 149 52 0.133 47 14 6 3 2 13.66 44639 chr7 45960645 45960645 G C rs2854746 IGFBP3 Nonsynonymous SNV A32G 0.498 0.479 0.48 183 585 184 0.469 141 157 51 38 52 0.598 44640 chr3 42906116 42906116 T C rs2228467 ACKR2 Nonsynonymous SNV V41A 0.074 0.096 0.095 31 87 37 0.079 28 1 2 2 3 22.1 44641 chr7 46728937 46728937 T C rs1404727 LOC730338 0 0 0.221 0 0 0 0 65 0 0 7 0 1.423 44642 chr7 46732428 46732428 A G rs700747 LOC730338 0 0 0.997 0 0 0 0 293 0 0 146 0 0.095 44643 chr15 68631920 68631920 C T rs9302249 ITGA11 Synonymous SNV T398T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.18 44644 chr3 19975139 19975139 C T rs17180771 EFHB Synonymous SNV R124R 0.135 0.146 0.156 49 159 56 0.126 46 16 7 3 2 6.129 44645 chr16 4945687 4945687 G T rs35340520 PPL Nonsynonymous SNV L335M 0.061 0.063 0.068 15 72 24 0.038 20 1 2 0 0 24.8 44646 chr3 179306737 179306737 A G MRPL47 Synonymous SNV L116L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.058 44647 chr3 43073875 43073875 C T rs115136383 GASK1A Synonymous SNV A40A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 13.03 44648 chr3 43074304 43074304 G A rs140184489 GASK1A Synonymous SNV P183P 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 9.519 44649 chr3 43074358 43074358 G A rs115556010 GASK1A Synonymous SNV R201R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 6.51 44650 chr3 43074421 43074421 G A rs150723183 GASK1A Synonymous SNV L222L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 2.516 44651 chr3 53259850 53259850 C T rs3163 TKT Synonymous SNV P598P 0.199 0.206 0.146 83 234 79 0.213 43 22 6 6 10 17.99 44652 chr3 53264485 53264485 A G rs1131728 TKT Synonymous SNV A365A 0.201 0.206 0.153 83 236 79 0.213 45 22 6 6 10 3.717 44653 chr7 47854948 47854948 C T rs202060442 PKD1L1 Nonsynonymous SNV R2358H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 44654 chr3 53269046 53269046 T C rs1051485 TKT Synonymous SNV P194P 0.201 0.206 0.153 83 236 79 0.213 45 22 6 6 10 0.046 44655 chr3 53269163 53269163 G A rs1051483 TKT Synonymous SNV D155D 0.202 0.206 0.153 83 237 79 0.213 45 23 6 6 10 9.823 44656 chr3 26751493 26751493 A T rs35497952 LRRC3B Synonymous SNV G110G 0.063 0.096 0.088 15 74 37 0.038 26 2 4 1 0 0.025 44657 chr7 47879248 47879248 T C rs143048854 PKD1L1 Synonymous SNV Q1855Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 44658 chr3 4354802 4354802 A G rs150691823 SETMAR Nonsynonymous SNV D126G 0.018 0.016 0.01 2 21 6 0.005 3 0 0 0 0 13.97 44659 chr16 8900241 8900241 G A rs62031146 PMM2 Synonymous SNV A108A 0.02 0.016 0.01 3 23 6 0.008 3 0 1 0 0 Conflicting interpretations of pathogenicity 12.61 44660 chr3 53857917 53857917 T G rs9001 CHDH Nonsynonymous SNV E40A 0.103 0.115 0.075 44 121 44 0.113 22 5 3 1 3 22.8 44661 chr3 183543291 183543291 G A rs263006 MAP6D1 Synonymous SNV R15R 0.174 0.143 0.35 86 204 55 0.221 103 91 24 37 38 13.39 44662 chr3 43618383 43618383 G A rs149196477 ANO10 Synonymous SNV F210F 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.387 44663 chr7 47927744 47927744 C T rs56100904 PKD1L1 Nonsynonymous SNV V894I 0.037 0.036 0.027 21 43 14 0.054 8 2 1 0 0 0.006 44664 chr3 180377529 180377529 G C rs112738198 CCDC39 Nonsynonymous SNV T182S 0.014 0.016 0.007 10 17 6 0.026 2 0 0 0 0 Benign 18.06 44665 chr3 43647257 43647257 C G rs147605535 ANO10 Nonsynonymous SNV E30Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26 44666 chr7 47930148 47930148 C T rs118004103 PKD1L1 Synonymous SNV S889S 0.037 0.036 0.024 21 43 14 0.054 7 2 1 0 0 12.67 44667 chr3 53914093 53914093 G A rs3733082 ACTR8 Nonsynonymous SNV T56I 0.055 0.057 0.041 24 64 22 0.062 12 0 2 1 0 22.7 44668 chr7 47970707 47970707 G A rs142896494 PKD1L1 Nonsynonymous SNV P244L 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 Likely benign 12.45 44669 chr7 4799141 4799141 A T rs79357656 FOXK1 Synonymous SNV G537G 0.06 0.034 0.044 27 70 13 0.069 13 2 0 2 0 0.077 44670 chr16 10911995 10911995 G C rs183327882 TVP23A Nonsynonymous SNV N18K 0.003 0 0 0 3 0 0 0 0 0 0 0 16.51 44671 chr3 3081959 3081959 T C rs339284 CNTN4-AS1 0.108 0.089 0.095 28 127 34 0.072 28 7 2 0 2 2.019 44672 chr3 423904 423904 A G rs62230378 CHL1 Nonsynonymous SNV Q640R 0.022 0.021 0.014 7 26 8 0.018 4 1 1 0 0 11.33 44673 chr7 4802035 4802035 A G rs1053753 FOXK1 Synonymous SNV V714V 0.086 0.068 0.065 26 101 26 0.067 19 13 5 3 4 0.097 44674 chr3 42727434 42727434 A G rs35033264 KLHL40 Synonymous SNV A108A 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 Benign 1.411 44675 chr3 42728163 42728163 C T rs61736693 KLHL40 Synonymous SNV H351H 0.003 0 0 5 4 0 0.013 0 0 0 0 0 Benign 12.67 44676 chr3 31725310 31725310 G A rs143777503 OSBPL10 Synonymous SNV H450H 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.023 44677 chr3 42915956 42915956 C T rs144987882 CYP8B1 Synonymous SNV K451K 0.009 0 0.007 0 10 0 0 2 0 0 0 0 12.44 44678 chr7 4823971 4823971 C T rs17135121 AP5Z1 Synonymous SNV S97S 0.087 0.07 0.082 27 102 27 0.069 24 4 2 2 2 Benign 10.92 44679 chr7 4825307 4825307 T A rs11772411 AP5Z1 Nonsynonymous SNV L219Q 0.063 0.047 0.058 26 74 18 0.067 17 2 1 2 3 Benign 25.4 44680 chr3 42916303 42916303 G A rs199773883 CYP8B1 Nonsynonymous SNV H336Y 0.003 0 0 4 4 0 0.01 0 0 0 0 0 15.71 44681 chr3 134251704 134251704 G T rs139536810 CEP63 Nonsynonymous SNV D135Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 26.3 44682 chr15 73862632 73862632 C T rs767422988 NPTN Nonsynonymous SNV A209T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.842 44683 chr7 4825314 4825314 C T rs11768079 AP5Z1 Synonymous SNV H221H 0.063 0.047 0.058 26 74 18 0.067 17 2 1 2 3 Benign 2.126 44684 chr7 4827330 4827330 C T rs17135128 AP5Z1 Synonymous SNV D303D 0.066 0.049 0.075 22 78 19 0.056 22 2 1 1 3 Benign 8.942 44685 chr7 48312215 48312215 G A rs140296472 ABCA13 Synonymous SNV S984S 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 0.28 44686 chr3 42917222 42917222 C T CYP8B1 Synonymous SNV R29R 0.006 0 0 0 7 0 0 0 0 0 0 0 7.599 44687 chr3 44816855 44816855 A G KIF15 Nonsynonymous SNV S58G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.6 44688 chr3 183954203 183954203 G A rs61744881 VWA5B2 Nonsynonymous SNV A210T 0.037 0.063 0.065 21 44 24 0.054 19 2 0 1 1 24.4 44689 chr16 11369712 11369712 C T rs189897315 PRM2 Nonsynonymous SNV R133H 0.003 0 0 0 3 0 0 0 0 0 0 0 4.566 44690 chr15 74277842 74277842 C T rs771754287 STOML1 Nonsynonymous SNV D153N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 44691 chr3 134884880 134884880 C T rs56372452 EPHB1 Synonymous SNV F552F 0.01 0.013 0.007 4 12 5 0.01 2 0 0 0 0 Benign 15.27 44692 chr7 48317939 48317939 T G rs200243325 ABCA13 Nonsynonymous SNV I2383R 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 1.697 44693 chr3 32932136 32932136 C T rs753096691 TRIM71 Synonymous SNV S480S 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 12.06 44694 chr16 11477641 11477641 C T LOC400499 0 0 0 0 0 0 0 0 0 0 0 0 22.9 44695 chr3 184008878 184008878 T A rs149515968 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV S600T 0.003 0.008 0.014 2 4 3 0.005 4 0 0 0 0 23.8 44696 chr3 43122162 43122162 C T rs115870061 POMGNT2 Synonymous SNV K254K 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Benign 6.809 44697 chr3 43345175 43345175 G A rs17406308 SNRK Synonymous SNV G160G 0.029 0.031 0.031 6 34 12 0.015 9 0 0 0 0 7.329 44698 chr7 4874420 4874420 G C rs2292498 RADIL Nonsynonymous SNV H412D 0.29 0.286 0.316 100 341 110 0.256 93 46 12 19 15 0.007 44699 chr3 1363496 1363496 A C CNTN6 Synonymous SNV A204A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.047 44700 chr7 4876057 4876057 C T rs3763384 RADIL Nonsynonymous SNV D239N 0.291 0.284 0.327 99 342 109 0.254 96 47 11 19 13 9.236 44701 chr3 63817430 63817430 G C rs2291533 C3orf49 Nonsynonymous SNV Q253H 0.197 0.167 0.17 74 231 64 0.19 50 33 13 3 3 12.38 44702 chr3 63967900 63967900 A G rs1053338 ATXN7 Nonsynonymous SNV K119R 0.166 0.141 0.146 64 195 54 0.164 43 22 8 2 3 Likely benign 13.92 44703 chr3 43618558 43618558 C T rs41289586 ANO10 Nonsynonymous SNV R152H 0.009 0.003 0.014 5 10 1 0.013 4 0 0 1 0 Benign 34 44704 chr3 63981676 63981676 T C rs61736567 ATXN7 Synonymous SNV S581S 0.032 0.01 0.02 5 37 4 0.013 6 0 0 0 0 Likely benign 0.319 44705 chr3 46007823 46007823 G T rs13079478 FYCO1 Nonsynonymous SNV N1001K 0.123 0.148 0.173 61 144 57 0.156 51 14 4 3 3 Benign 9.274 44706 chr3 46007825 46007825 T C rs13059238 FYCO1 Nonsynonymous SNV N1001D 0.125 0.151 0.173 62 147 58 0.159 51 14 5 3 3 Benign 0.098 44707 chr3 46008087 46008087 G A rs13079869 FYCO1 Synonymous SNV C913C 0.125 0.151 0.177 64 147 58 0.164 52 14 4 3 3 Benign 0.022 44708 chr3 64672474 64672474 A T rs36115950 ADAMTS9 Nonsynonymous SNV S96T 0.106 0.099 0.085 45 124 38 0.115 25 6 2 2 2 8.976 44709 chr3 46307089 46307089 T C rs61738836 CCR3 Nonsynonymous SNV V147A 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 21.3 44710 chr3 46009487 46009487 G A rs33910087 FYCO1 Nonsynonymous SNV R447C 0.125 0.151 0.18 64 147 58 0.164 53 14 4 3 3 Benign 5.702 44711 chr3 65425560 65425560 - CTG rs142043619 MAGI1 Q421_T422insQ 0.226 0.229 0.211 89 265 88 0.228 62 28 11 5 6 44712 chr3 46307473 46307473 G A rs41409552 CCR3 Nonsynonymous SNV R275Q 0.016 0.026 0.014 7 19 10 0.018 4 0 0 0 0 1.358 44713 chr3 46010007 46010007 T C rs13071283 FYCO1 Synonymous SNV Q273Q 0.129 0.154 0.18 65 151 59 0.167 53 14 5 3 3 Benign 0.005 44714 chr3 66430877 66430877 G C rs332374 LRIG1 Nonsynonymous SNV P1031R 0.029 0.016 0.024 6 34 6 0.015 7 0 0 0 0 16.52 44715 chr3 66431187 66431187 C T rs332373 LRIG1 Nonsynonymous SNV A957T 0.029 0.016 0.024 6 34 6 0.015 7 0 0 0 0 0.009 44716 chr3 46063329 46063329 T C rs2230322 XCR1 Synonymous SNV L37L 0.123 0.159 0.184 63 144 61 0.162 54 12 4 2 3 0.008 44717 chr7 53103371 53103371 G T rs72598684 POM121L12 Nonsynonymous SNV A3S 0.225 0.206 0.248 82 264 79 0.21 73 32 10 10 8 1.206 44718 chr7 53103382 53103382 G T rs72598685 POM121L12 Synonymous SNV P6P 0.226 0.208 0.248 82 265 80 0.21 73 32 10 10 8 0.957 44719 chr7 53104078 53104078 G A rs72598686 POM121L12 Synonymous SNV P238P 0.25 0.227 0.289 91 293 87 0.233 85 40 11 11 10 2.106 44720 chr3 6903297 6903297 C T rs3749380 GRM7 Synonymous SNV N74N 0.382 0.398 0.473 159 448 153 0.408 139 80 32 34 24 13.6 44721 chr3 44803076 44803076 C T rs201826988 KIAA1143 Nonsynonymous SNV V7I 0.003 0 0 4 4 0 0.01 0 0 0 0 0 22.4 44722 chr3 37695260 37695260 A G rs57547208 ITGA9 Nonsynonymous SNV Q632R 0.044 0.06 0.037 19 52 23 0.049 11 1 1 0 0 9.413 44723 chr3 69171497 69171499 AGA - rs139192915 LMOD3 L14del 0.021 0.029 0.031 13 25 11 0.033 9 0 0 0 0 44724 chr3 38136401 38136401 A G rs34503588 DLEC1 Nonsynonymous SNV M651V 0.036 0.047 0.027 17 42 18 0.044 8 2 1 0 1 12.42 44725 chr7 55248926 55248926 T C rs10241451 EGFR-AS1 0.246 0.24 0.16 100 289 92 0.256 47 37 11 7 11 5.831 44726 chr3 184870607 184870607 C T rs374173126 C3orf70 Nonsynonymous SNV S2N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.01 44727 chr3 38307510 38307510 T C rs9842091 SLC22A13 Synonymous SNV A53A 0.08 0.081 0.054 38 94 31 0.097 16 8 2 0 1 5.656 44728 chr7 55459563 55459563 A G rs2049497 LANCL2 Synonymous SNV T94T 0.363 0.352 0.35 132 426 135 0.338 103 80 22 21 25 2.801 44729 chr3 140785200 140785200 - CGGCATCCGCGGCAAGGTGGGCCACGCCCG SPSB4 G96_L97insIRGKVGHARG 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 44730 chr3 46759228 46759228 - AGC rs143449678 PRSS50 L32_R33insL 0.069 0.063 0.007 30 81 24 0.077 2 6 2 0 0 44731 chr3 46902227 46902227 C T rs368364468 MYL3 Synonymous SNV A82A 0.007 0.008 0 6 8 3 0.015 0 0 1 0 0 Likely benign 18.37 44732 chr7 63459299 63459299 A - rs35320209 ZNF722P 0 0 0.612 0 0 0 0 180 0 0 79 0 44733 chr3 74349062 74349062 T C rs626578 CNTN3 Nonsynonymous SNV N708S 0.088 0.083 0.102 27 103 32 0.069 30 4 2 1 1 5.478 44734 chr3 45130609 45130609 G A rs35428731 CDCP1 Nonsynonymous SNV A673V 0.083 0.055 0.102 40 97 21 0.103 30 4 0 1 5 4.695 44735 chr7 64139524 64139524 G A rs35559940 MIR6839 0 0 0.857 0 0 0 0 252 0 0 108 0 1.247 44736 chr3 186386776 186386776 C G rs4516605 HRG Nonsynonymous SNV S79W 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 5.851 44737 chr7 64280625 64280625 G A rs12154799 ZNF138 Synonymous SNV G2G 0 0 0.99 0 0 0 0 291 0 0 145 0 8.048 44738 chr3 38640518 38640518 G A rs764488677 SCN5A Synonymous SNV G638G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.1 44739 chr7 64280627 64280627 C G rs12155450 ZNF138 Nonsynonymous SNV A3G 0 0 0.99 0 0 0 0 291 0 0 145 0 6.721 44740 chr16 19475099 19475099 C A rs61737709 TMC5 Nonsynonymous SNV A167D 0.029 0.018 0.02 15 34 7 0.038 6 2 0 0 0 11 44741 chr3 8667989 8667989 C T rs147629637 SSUH2 Synonymous SNV G231G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 8.846 44742 chr3 4714920 4714920 A G rs35789999 ITPR1 Nonsynonymous SNV M754V 0.006 0.01 0.007 11 7 4 0.028 2 0 0 0 0 Benign 22.1 44743 chr16 19548461 19548461 C T rs62000395 CCP110 Synonymous SNV G490G 0.025 0.016 0.017 15 29 6 0.038 5 1 0 0 0 5.137 44744 chr3 38763863 38763863 G C rs6771157 SCN10A Synonymous SNV T1033T 0.255 0.214 0.282 78 299 82 0.2 83 41 10 10 7 Benign 0.034 44745 chr3 38764998 38764998 A G rs12632942 SCN10A Nonsynonymous SNV L994P 0.256 0.211 0.282 78 300 81 0.2 83 41 10 10 7 Benign 10.43 44746 chr3 87017998 87017998 T G rs193078775 VGLL3 Nonsynonymous SNV M227L 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 6.793 44747 chr3 87276699 87276699 C T rs2279720 CHMP2B Synonymous SNV T9T 0.095 0.115 0.119 46 112 44 0.118 35 2 2 4 3 Benign 20.3 44748 chr3 38768247 38768247 G A rs59468016 SCN10A Synonymous SNV G881G 0.264 0.214 0.289 82 310 82 0.21 85 41 10 13 9 Benign 7.581 44749 chr3 142279133 142279133 - AGT ATR T504_V505insT 0 0.003 0 0 0 1 0 0 0 0 0 0 44750 chr3 38768300 38768300 T C rs57326399 SCN10A Nonsynonymous SNV I864V 0.264 0.211 0.293 82 310 81 0.21 86 41 10 13 9 Benign 0.002 44751 chr15 79307680 79307680 C T rs34687975 RASGRF1 Synonymous SNV P605P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 13.27 44752 chr3 186572089 186572089 T C rs17366743 ADIPOQ Nonsynonymous SNV Y111H 0.032 0.029 0.007 13 38 11 0.033 2 2 0 0 1 11.63 44753 chr3 45987980 45987980 G A rs2234355 CXCR6 Nonsynonymous SNV E3K 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 17.44 44754 chr15 79382733 79382733 G A rs147992380 RASGRF1 Synonymous SNV N36N 0.014 0.01 0.007 3 16 4 0.008 2 0 0 0 0 Benign 9.458 44755 chr3 38793989 38793989 G A rs7617919 SCN10A Synonymous SNV L492L 0.26 0.214 0.279 84 305 82 0.215 82 40 10 13 10 Benign 12.55 44756 chr7 6554034 6554034 T G rs138298168 GRID2IP Synonymous SNV A465A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 10.84 44757 chr3 38798171 38798171 C T rs62244070 SCN10A Synonymous SNV E428E 0.229 0.188 0.228 80 269 72 0.205 67 40 10 12 10 Benign 11.94 44758 chr3 4842231 4842231 C T rs2291862 ITPR1 Synonymous SNV L2289L 0.314 0.362 0.299 141 369 139 0.362 88 63 21 16 21 Benign 12.3 44759 chr3 186971082 186971082 A G rs772429562 MASP1 Synonymous SNV L256L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.022 44760 chr7 6591008 6591008 C T rs73059373 GRID2IP Synonymous SNV R20R 0.076 0.081 0.071 46 89 31 0.118 21 1 0 0 3 14.12 44761 chr15 79749261 79749261 A C rs79982509 MINAR1 Nonsynonymous SNV N258H 0.062 0.065 0.037 24 73 25 0.062 11 4 0 0 1 23.3 44762 chr3 48462671 48462671 G A rs34087325 PLXNB1 Synonymous SNV D592D 0.02 0.023 0.014 10 23 9 0.026 4 0 0 0 0 9.344 44763 chr3 48463785 48463785 G T rs61729217 PLXNB1 Synonymous SNV T458T 0.02 0.023 0.014 10 23 9 0.026 4 0 0 0 0 9.372 44764 chr3 47462499 47462499 G A rs371942334 SCAP Synonymous SNV V167V 0.007 0.008 0 6 8 3 0.015 0 0 1 0 0 11.82 44765 chr15 79750256 79750256 A G rs3750002 MINAR1 Synonymous SNV E589E 0.063 0.065 0.037 25 74 25 0.064 11 4 0 0 1 0.187 44766 chr7 6661256 6661256 C G rs11971880 ZNF853 Nonsynonymous SNV Q197E 0.084 0.086 0.068 39 99 33 0.1 20 3 0 0 2 18.63 44767 chr7 6662086 6662086 G C rs9770042 ZNF853 Synonymous SNV G473G 0.083 0.083 0.065 42 97 32 0.108 19 4 0 0 3 1.36 44768 chr7 6662233 6662233 C T rs147069621 ZNF853 Synonymous SNV G522G 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 11.41 44769 chr3 48625302 48625302 C T rs747561081 COL7A1 Synonymous SNV A927A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.19 44770 chr3 47896798 47896798 G T MAP4 Synonymous SNV A1067A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.62 44771 chr3 48677191 48677191 G A rs61729242 CELSR3 Nonsynonymous SNV P3276L 0.026 0.026 0.031 4 30 10 0.01 9 0 0 0 0 Benign 23.2 44772 chr3 97194242 97194242 C T rs16838751 EPHA6 Synonymous SNV T39T 0.057 0.055 0.054 21 67 21 0.054 16 3 0 0 1 16.96 44773 chr7 70228020 70228020 G T rs2293507 AUTS2 Nonsynonymous SNV A303S 0.06 0.07 0.065 20 70 27 0.051 19 3 1 2 0 3.355 44774 chr3 48681053 48681053 C T rs9868809 CELSR3 Synonymous SNV G2741G 0.136 0.169 0.122 52 160 65 0.133 36 17 6 3 1 15.11 44775 chr7 70228139 70228139 A G rs2293508 AUTS2 Synonymous SNV P342P 0.06 0.07 0.065 20 70 27 0.051 19 3 1 2 0 0.007 44776 chr3 48691316 48691316 T C rs12107252 CELSR3 Nonsynonymous SNV Q1758R 0.147 0.188 0.15 52 173 72 0.133 44 16 7 2 2 7.882 44777 chr3 46415061 46415061 G A rs1800452 CCR5 Nonsynonymous SNV R223Q 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 22.5 44778 chr7 7136061 7136061 - A rs35367486 LOC100131257 0 0 0.878 0 0 0 0 258 0 0 114 0 44779 chr3 48282695 48282695 A G rs9847953 ZNF589 Nonsynonymous SNV T12A 0.288 0.292 0.34 105 338 112 0.269 100 54 14 19 16 0.072 44780 chr7 7136077 7136077 C A rs17163287 LOC100131257 0 0 0.66 0 0 0 0 194 0 0 69 0 0.668 44781 chr3 48694147 48694147 G A rs2286651 CELSR3 Synonymous SNV C1461C 0.133 0.172 0.122 47 156 66 0.121 36 14 6 1 1 6.538 44782 chr3 97590709 97590709 A T rs146186739 CRYBG3 Nonsynonymous SNV K224M 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 22.8 44783 chr3 48697654 48697654 C G rs3821875 CELSR3 Nonsynonymous SNV S805T 0.133 0.172 0.126 47 156 66 0.121 37 14 6 2 1 21.9 44784 chr3 48699519 48699519 C T rs3733086 CELSR3 Synonymous SNV K183K 0.132 0.172 0.126 47 155 66 0.121 37 13 6 2 1 9.634 44785 chr3 48309828 48309828 C G rs11718329 ZNF589 Nonsynonymous SNV T216R 0.287 0.292 0.344 104 337 112 0.267 101 54 14 19 15 0.019 44786 chr3 48725707 48725707 C T rs1048940 IP6K2 Synonymous SNV X427X 0.097 0.125 0.082 36 114 48 0.092 24 7 1 1 1 12.11 44787 chr3 48360992 48360992 T G rs11718350 SPINK8 Nonsynonymous SNV K78N 0.28 0.284 0.333 102 329 109 0.262 98 51 14 18 14 21.9 44788 chr3 48732480 48732480 T C rs17080319 IP6K2 Nonsynonymous SNV D137G 0.134 0.172 0.139 48 157 66 0.123 41 13 6 3 1 10.26 44789 chr3 191098020 191098020 A C rs201856535 CCDC50 Nonsynonymous SNV Y174S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 44790 chr7 73184318 73184318 A G rs113016282 CLDN3 Nonsynonymous SNV I21T 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 25.3 44791 chr3 39185900 39185900 G T rs145888015 CSRNP1 Nonsynonymous SNV P190T 0.003 0.005 0.02 1 4 2 0.003 6 0 0 0 0 2.198 44792 chr7 73249155 73249155 G A rs141298816 METTL27 Nonsynonymous SNV P219L 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 0.003 44793 chr3 49067904 49067904 T C rs61729488 QRICH1 Nonsynonymous SNV N771S 0.124 0.154 0.133 40 145 59 0.103 39 11 4 2 1 0.001 44794 chr3 49141116 49141116 G A rs5030795 QARS Synonymous SNV H122H 0.124 0.156 0.133 39 145 60 0.1 39 10 4 2 1 Benign 5.564 44795 chr3 148925398 148925398 T C rs150303869 CP Nonsynonymous SNV N263S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 25.8 44796 chr3 46727909 46727909 C A rs34935085 ALS2CL Synonymous SNV L185L 0.055 0.055 0.061 24 65 21 0.062 18 4 1 0 0 10.83 44797 chr3 49156473 49156473 C G rs11552724 USP19 Nonsynonymous SNV D36H 0.124 0.156 0.133 40 145 60 0.103 39 10 4 2 1 25.4 44798 chr7 73932560 73932560 A G rs17851629 GTF2IRD1 Synonymous SNV E203E 0.166 0.172 0.218 73 195 66 0.187 64 15 5 9 6 9.058 44799 chr7 73944185 73944185 T C rs2240357 GTF2IRD1 Synonymous SNV Y436Y 0.199 0.208 0.231 91 234 80 0.233 68 24 10 9 11 0.434 44800 chr3 48506279 48506279 G A rs76493396 ATRIP Nonsynonymous SNV R675Q 0.007 0.01 0.017 3 8 4 0.008 5 0 0 0 0 Benign 28.2 44801 chr3 49162583 49162583 C T rs35713889 LAMB2 Nonsynonymous SNV G914R 0.044 0.034 0.058 9 52 13 0.023 17 0 0 0 0 Benign/Likely benign 34 44802 chr3 46753970 46753970 C T rs35759696 PRSS50 Synonymous SNV E308E 0.057 0.049 0.051 27 67 19 0.069 15 3 1 0 0 4.539 44803 chr3 49162733 49162733 G A rs144092322 LAMB2 Synonymous SNV G891G 0.035 0.029 0.031 7 41 11 0.018 9 0 0 0 0 Benign 11.82 44804 chr3 49215966 49215966 C T rs9837625 C3orf84 Synonymous SNV P49P 0.124 0.156 0.129 39 145 60 0.1 38 10 4 2 1 11.32 44805 chr7 75211414 75211414 A G rs237238 HIP1 Synonymous SNV A173A 0.075 0.083 0.078 31 88 32 0.079 23 1 4 1 1 10.57 44806 chr3 49294250 49294250 C A rs13068038 CCDC36 Nonsynonymous SNV D440E 0.124 0.156 0.133 39 145 60 0.1 39 10 4 2 1 4.12 44807 chr3 48587408 48587408 A C rs35452137 MIR6823 0.05 0.065 0.061 19 59 25 0.049 18 1 0 1 0 4.234 44808 chr7 75221753 75221753 G A rs200260342 HIP1 Synonymous SNV N88N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.16 44809 chr16 21698949 21698949 C T rs16972658 OTOA Synonymous SNV R126R 0.055 0.044 0.034 15 64 17 0.038 10 1 1 0 0 Benign 12.46 44810 chr3 49313978 49313978 C T rs13077498 C3orf62 Nonsynonymous SNV E110K 0.122 0.151 0.129 39 143 58 0.1 38 9 4 2 1 1.475 44811 chr3 48625836 48625836 C T rs200172845 COL7A1 Synonymous SNV P863P 0.006 0.008 0.003 6 7 3 0.015 1 0 1 0 0 1.619 44812 chr7 75609677 75609677 A G rs1135612 POR Synonymous SNV P129P 0.244 0.234 0.224 105 286 90 0.269 66 47 15 10 17 Benign 0.108 44813 chr3 48628014 48628014 G A rs2228561 COL7A1 Nonsynonymous SNV P595L 0.055 0.068 0.099 20 64 26 0.051 29 1 0 1 0 Benign 4.185 44814 chr3 97852291 97852291 A G rs112819024 OR5H1 Synonymous SNV L250L 0.009 0.005 0.01 7 11 2 0.018 3 0 0 0 0 0.116 44815 chr3 193125174 193125174 G A ATP13A4 Synonymous SNV C1102C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.337 44816 chr3 49343175 49343175 G A rs2230929 USP4 Synonymous SNV D320D 0.181 0.206 0.211 64 212 79 0.164 62 20 8 7 6 6.871 44817 chr3 41607541 41607541 C T rs143473972 ULK4 Synonymous SNV S765S 0.014 0.005 0.007 6 16 2 0.015 2 0 0 0 0 Benign 16.75 44818 chr3 49362369 49362369 C T rs56038006 USP4 Synonymous SNV K197K 0.181 0.206 0.211 64 212 79 0.164 62 20 8 7 6 13.72 44819 chr3 49394834 49394834 G A rs1050450 GPX1 Nonsynonymous SNV P154L 0.295 0.299 0.303 105 346 115 0.269 89 52 15 13 20 Benign 19.43 44820 chr3 46875258 46875258 A G rs75324040 PRSS42P 0.047 0.042 0.031 15 55 16 0.038 9 2 1 0 0 2.114 44821 chr3 49395674 49395676 GCC - rs139760138 GPX1 A13del 0.193 0.188 0.19 66 226 72 0.169 56 52 15 13 20 44822 chr7 75959188 75959188 G A rs2072435 YWHAG Synonymous SNV S150S 0.281 0.26 0.235 118 330 100 0.303 69 36 13 6 14 8.617 44823 chr3 193272443 193272452 GTGTGTGTGT - ATP13A4-AS1 0.01 0.003 0.003 3 12 1 0.008 1 1 0 0 1 44824 chr3 49455330 49455330 C T rs11715915 AMT Synonymous SNV R274R 0.299 0.305 0.299 105 351 117 0.269 88 53 15 13 20 Benign 16.22 44825 chr3 193272445 193272448 GTGT - ATP13A4-AS1 0.126 0.104 0 52 148 40 0.133 0 0 0 0 0 44826 chr3 49463700 49463700 C T rs114877151 NICN1 Synonymous SNV S98S 0.04 0.029 0.051 9 47 11 0.023 15 0 0 0 0 14.3 44827 chr3 97888337 97888337 C T rs13082608 OR5H15 Nonsynonymous SNV P265L 0.143 0.138 0.17 51 168 53 0.131 50 17 2 2 1 10.04 44828 chr3 150421527 150421527 - TCCTCCTCCTCCTCCACCTCT ERICH6 V55_V56insEEEEEEV 0.07 0.094 0 29 82 36 0.074 0 28 16 0 10 44829 chr3 49570200 49570200 C T rs1801143 DAG1 Synonymous SNV H752H 0.3 0.305 0.296 103 352 117 0.264 87 52 15 13 20 Benign 1.19 44830 chr3 49689210 49689210 G A rs34762726 BSN Nonsynonymous SNV A741T 0.279 0.286 0.279 94 328 110 0.241 82 48 14 11 19 0.664 44831 chr3 98251207 98251207 C A rs146422549 GPR15 Synonymous SNV S110S 0.014 0.008 0.007 9 16 3 0.023 2 1 0 0 0 12.62 44832 chr3 49690496 49690496 C T rs11709525 BSN Synonymous SNV S1169S 0.279 0.286 0.279 94 328 110 0.241 82 48 14 11 19 6.025 44833 chr3 49701983 49701983 G A rs9858542 BSN Synonymous SNV T3912T 0.27 0.273 0.265 93 317 105 0.238 78 48 14 11 19 16.61 44834 chr3 98307696 98307696 T G rs1131857 CPOX Nonsynonymous SNV N272H 0.106 0.109 0.105 55 125 42 0.141 31 8 0 1 2 Benign 22.4 44835 chr3 49740895 49740895 A G rs35726701 RNF123 Nonsynonymous SNV K596E 0.026 0.018 0.02 11 30 7 0.028 6 0 0 0 0 25.3 44836 chr16 23536531 23536531 C T rs75133940 EARS2 Nonsynonymous SNV E508K 0.085 0.083 0.095 31 100 32 0.079 28 3 2 1 3 Benign 8.788 44837 chr3 49714225 49714225 T C rs1131095 APEH Synonymous SNV Y284Y 0.28 0.286 0.279 94 329 110 0.241 82 48 14 11 19 0.013 44838 chr3 98519481 98519481 G A rs1822017 DCBLD2 Synonymous SNV S600S 0.153 0.177 0.167 68 180 68 0.174 49 14 2 2 6 11.5 44839 chr3 49749976 49749976 G A rs34823813 RNF123 Nonsynonymous SNV R854H 0.118 0.148 0.133 36 139 57 0.092 39 10 4 2 1 18.51 44840 chr3 49755405 49755405 G A rs148158961 AMIGO3 Synonymous SNV S498S 0.006 0.008 0.003 6 7 3 0.015 1 0 1 0 0 6.017 44841 chr3 98619997 98619997 G C rs17852693 DCBLD2 Synonymous SNV L58L 0.149 0.169 0.143 67 175 65 0.172 42 14 2 2 6 11.46 44842 chr7 796430 796430 C T rs73036225 DNAAF5 Synonymous SNV S423S 0.244 0.247 0.276 85 287 95 0.218 81 30 15 13 10 Benign 10.93 44843 chr3 151112568 151112568 G A rs3732768 MED12L Synonymous SNV S1876S 0.19 0.172 0.204 82 223 66 0.21 60 31 9 9 5 0.299 44844 chr3 49760431 49760431 G C rs34345884 GMPPB Nonsynonymous SNV H126D 0.026 0.018 0.02 11 30 7 0.028 6 0 0 0 0 Benign 14.8 44845 chr7 81588636 81588636 G A rs1229502 CACNA2D1 Synonymous SNV P1038P 0.331 0.333 0.354 135 389 128 0.346 104 61 23 26 22 Benign 11.4 44846 chr3 50103917 50103917 G A rs2023953 RBM6 Synonymous SNV Q453Q 0.114 0.125 0.129 34 134 48 0.087 38 9 3 3 1 7.492 44847 chr7 82583609 82583609 A C rs10487648 PCLO Nonsynonymous SNV F2220L 0.116 0.141 0.129 35 136 54 0.09 38 4 2 3 4 4.494 44848 chr7 82785097 82785097 T C rs61741659 PCLO Nonsynonymous SNV D287G 0.239 0.24 0.265 77 281 92 0.197 78 32 9 17 4 12.45 44849 chr16 24942602 24942602 C T rs767131053 ARHGAP17 Nonsynonymous SNV R595Q 0 0 0 0 0 0 0 0 0 0 0 0 23.4 44850 chr3 50369546 50369546 C A rs2073498 RASSF1 Nonsynonymous SNV A63S 0.114 0.094 0.058 51 134 36 0.131 17 12 3 1 0 19.43 44851 chr7 83037731 83037731 C G rs61729612 SEMA3E Nonsynonymous SNV R148P 0.143 0.125 0.15 61 168 48 0.156 44 13 4 2 4 Benign 23.2 44852 chr7 83764113 83764113 T C rs74349534 SEMA3A Synonymous SNV Q89Q 0.011 0.01 0.017 4 13 4 0.01 5 0 0 0 0 1.378 44853 chr7 86415987 86415987 C T rs2228595 GRM3 Synonymous SNV A293A 0.092 0.073 0.112 31 108 28 0.079 33 5 2 3 1 12.22 44854 chr3 51978552 51978552 C T rs142065339 PARP3 Synonymous SNV I160I 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 12.55 44855 chr7 86468254 86468254 G A rs17161026 GRM3 Nonsynonymous SNV G475D 0.021 0.016 0.017 4 25 6 0.01 5 1 0 1 0 12.79 44856 chr3 48465206 48465206 C T rs61729213 PLXNB1 Nonsynonymous SNV R272H 0.014 0.008 0.01 11 17 3 0.028 3 0 0 0 0 12.27 44857 chr3 51968775 51968775 C A rs200319255 RRP9 Nonsynonymous SNV G351V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 32 44858 chr7 86547834 86547834 G A rs75878588 KIAA1324L Nonsynonymous SNV T266M 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 13.48 44859 chr7 86781423 86781423 G A rs2286267 LOC101927420 0 0 0.799 0 0 0 0 235 0 0 97 0 6.863 44860 chr3 48501921 48501921 G A rs147003990 ATRIP Nonsynonymous SNV G397R 0.004 0 0 0 5 0 0 0 0 0 0 0 11.78 44861 chr3 52018072 52018072 C T rs767831273 ABHD14A-ACY1 Nonsynonymous SNV R88C 0.006 0.008 0 6 7 3 0.015 0 0 1 0 0 9.105 44862 chr3 195936382 195936382 G A rs11719281 ZDHHC19 Synonymous SNV S91S 0.095 0.089 0.071 43 111 34 0.11 21 5 3 0 5 12.27 44863 chr3 5229860 5229860 C G rs199602685 EDEM1 Nonsynonymous SNV P124A 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 12.07 44864 chr3 52380764 52380764 G A rs761716658 DNAH1 Nonsynonymous SNV D645N 0.006 0.008 0 7 7 3 0.018 0 0 1 0 0 16.39 44865 chr3 48732846 48732846 G A rs61740999 IP6K2 Nonsynonymous SNV S15F 0.078 0.039 0.061 20 92 15 0.051 18 4 0 1 1 9.384 44866 chr7 87754915 87754915 G A rs17255978 ADAM22 Nonsynonymous SNV V206I 0.063 0.065 0.065 27 74 25 0.069 19 4 1 0 0 18.45 44867 chr3 49161660 49161660 T C rs34290943 LAMB2 Synonymous SNV Q1129Q 0.103 0.099 0.085 37 121 38 0.095 25 5 0 1 2 Benign 0.004 44868 chr4 100573382 100573382 G A C4orf54 Synonymous SNV F808F 0.003 0.013 0 2 4 5 0.005 0 0 0 0 0 9.322 44869 chr3 49162284 49162284 C T rs34759087 LAMB2 Nonsynonymous SNV E987K 0.109 0.099 0.085 38 128 38 0.097 25 5 0 1 3 Benign 23.1 44870 chr16 29708633 29708633 C T rs767440118 QPRT Synonymous SNV D120D 0.003 0 0 0 4 0 0 0 0 0 0 0 13.78 44871 chr4 1018271 1018271 T C rs4647946 FGFRL1 Synonymous SNV D297D 0.038 0.065 0.034 17 45 25 0.044 10 0 1 0 1 0.083 44872 chr3 44284610 44284610 G A rs80124180 TOPAZ1 Synonymous SNV K204K 0.062 0.052 0.044 34 73 20 0.087 13 1 1 1 1 6.487 44873 chr3 44286632 44286632 T C rs184177771 TOPAZ1 Synonymous SNV N878N 0.009 0 0.007 3 10 0 0.008 2 0 0 0 0 Benign 0.774 44874 chr4 1018891 1018891 G T rs4647931 FGFRL1 Nonsynonymous SNV R424L 0.023 0.018 0.037 7 27 7 0.018 11 0 0 1 0 24.5 44875 chr3 44612839 44612839 C T rs34437520 ZKSCAN7 Nonsynonymous SNV S746F 0.018 0.008 0.024 10 21 3 0.026 7 0 0 0 0 13.71 44876 chr16 29821430 29821438 GCGGCAGCG - rs780065474 MAZ A141_A143del 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 44877 chr3 196544948 196544948 T C rs56172538 PAK2 Synonymous SNV F358F 0.089 0.102 0.031 34 104 39 0.087 9 5 1 0 1 3.601 44878 chr3 197597044 197597044 C T rs77281724 LRCH3 Synonymous SNV P593P 0.124 0.125 0.105 41 145 48 0.105 31 6 2 1 2 13.77 44879 chr4 103188709 103188709 C T rs13107325 SLC39A8 Nonsynonymous SNV A324T 0.097 0.096 0.095 48 114 37 0.123 28 10 2 1 0 34 44880 chr3 196743226 196743226 G A rs141157202 MELTF Synonymous SNV H305H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.14 44881 chr3 44943150 44943150 C T rs750841542 TGM4 Synonymous SNV C264C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.632 44882 chr3 197701913 197701913 G T rs7373165 LMLN Nonsynonymous SNV E106D 0.095 0.117 0.071 29 111 45 0.074 21 3 4 1 3 18.19 44883 chr15 89169653 89169653 G A rs34649587 AEN Synonymous SNV A71A 0.032 0.029 0.037 17 38 11 0.044 11 0 0 0 0 9.618 44884 chr3 49832788 49832788 G A rs73079003 CDHR4 Nonsynonymous SNV T291M 0.101 0.089 0.068 36 119 34 0.092 20 7 0 1 2 5.094 44885 chr3 197581298 197581298 T C rs773202118 LRCH3 Synonymous SNV D542D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.03 44886 chr3 52584477 52584477 C T rs369794948 PBRM1 Synonymous SNV A1564A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.26 44887 chr16 30536918 30536918 C G rs10871453 ZNF768 Nonsynonymous SNV E181D 0.323 0.354 0.279 143 379 136 0.367 82 66 23 8 22 11.18 44888 chr3 52643343 52643343 T G rs142197601 PBRM1 Synonymous SNV A851A 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Benign 4.901 44889 chr16 30566747 30566747 G A rs17850402 ZNF764 Nonsynonymous SNV A331V 0.109 0.12 0.109 42 128 46 0.108 32 9 1 2 0 16.12 44890 chr7 92161835 92161835 A C rs75703315 RBM48 Synonymous SNV A140A 0.047 0.036 0.037 26 55 14 0.067 11 0 1 0 0 0.081 44891 chr7 92733766 92733766 C A rs10279499 SAMD9 Nonsynonymous SNV V549L 0.153 0.133 0.126 65 180 51 0.167 37 13 6 3 5 23.4 44892 chr4 104512811 104512811 C T rs201088165 TACR3 Nonsynonymous SNV M306I 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 Uncertain significance 19.52 44893 chr7 92734451 92734451 A G rs6965201 SAMD9 Synonymous SNV Y320Y 0.296 0.294 0.279 127 347 113 0.326 82 42 14 14 22 0.003 44894 chr7 92734983 92734983 A G rs6969691 SAMD9 Nonsynonymous SNV I143T 0.191 0.159 0.15 74 224 61 0.19 44 19 7 4 6 0.002 44895 chr4 104577382 104577382 T C rs2276973 TACR3 Nonsynonymous SNV K286R 0.006 0.016 0.017 2 7 6 0.005 5 0 0 0 0 Benign/Likely benign 10.57 44896 chr7 92761875 92761875 C G rs17165111 SAMD9L Nonsynonymous SNV G1137A 0.024 0.026 0.024 16 28 10 0.041 7 0 0 0 1 0.002 44897 chr3 49946812 49946812 G A rs61729114 MON1A Synonymous SNV Y402Y 0.043 0.047 0.054 21 51 18 0.054 16 0 0 0 1 4.456 44898 chr3 52825912 52825912 C A rs7549 ITIH1 Synonymous SNV V619V 0.094 0.086 0.054 49 110 33 0.126 16 6 1 0 1 8.381 44899 chr7 92762681 92762681 A G rs1029357 SAMD9L Synonymous SNV A868A 0.058 0.065 0.075 30 68 25 0.077 22 6 0 2 0 0.127 44900 chr4 10586571 10586571 G A rs61759824 CLNK Nonsynonymous SNV P31L 0.074 0.073 0.061 21 87 28 0.054 18 2 1 0 0 Benign 19.5 44901 chr7 92764489 92764489 C T rs10488532 SAMD9L Nonsynonymous SNV V266I 0.177 0.174 0.156 76 208 67 0.195 46 16 7 3 9 0.001 44902 chr3 20042878 20042878 T A rs199921992 PP2D1 Nonsynonymous SNV Q245L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.8 44903 chr4 106156187 106156187 C T rs17253672 TET2 Nonsynonymous SNV P363L 0.063 0.063 0.082 24 74 24 0.062 24 2 1 3 1 not provided 23.3 44904 chr3 52836533 52836533 G A rs74320783 ITIH3 Nonsynonymous SNV G523R 0.013 0.031 0.01 17 15 12 0.044 3 0 1 0 1 Benign 32 44905 chr7 92970847 92970847 C T rs2106432 VPS50 Synonymous SNV L723L 0.312 0.313 0.316 131 366 120 0.336 93 58 18 19 24 8.55 44906 chr3 169644703 169644703 A G rs763038409 SAMD7 Nonsynonymous SNV Y218C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.134 44907 chr7 92985252 92985252 T C rs2374639 VPS50 Synonymous SNV L879L 0.233 0.229 0.248 100 274 88 0.256 73 33 9 9 13 4.035 44908 chr3 52819206 52819206 C T ITIH1 Synonymous SNV N230N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.87 44909 chr3 169694751 169694751 T C SEC62 Nonsynonymous SNV C55R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.1 44910 chr3 46306700 46306700 T C rs4987053 CCR3 Synonymous SNV Y17Y 0.072 0.091 0.078 32 84 35 0.082 23 3 1 1 0 0.002 44911 chr4 106474078 106474078 G A rs10032241 ARHGEF38 Synonymous SNV R52R 0.084 0.083 0.136 40 99 32 0.103 40 2 3 2 4 10.29 44912 chr7 94030899 94030899 T C rs1800222 COL1A2 Synonymous SNV D82D 0.145 0.151 0.163 61 170 58 0.156 48 14 2 4 5 Benign 0.6 44913 chr7 94041937 94041937 A C rs412777 COL1A2 Synonymous SNV P482P 0.359 0.344 0.337 140 422 132 0.359 99 76 21 13 27 Benign 0.17 44914 chr3 46450297 46450297 A G rs3204850 CCRL2 Nonsynonymous SNV I255V 0.071 0.086 0.068 40 83 33 0.103 20 3 2 1 0 7.351 44915 chr7 94056349 94056349 C T rs1800248 COL1A2 Synonymous SNV G1045G 0.064 0.057 0.099 27 75 22 0.069 29 2 0 2 1 Benign 14.37 44916 chr3 171087448 171087448 C T rs902712497 TNIK Synonymous SNV V28V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.85 44917 chr7 94229012 94229012 G A rs778398331 SGCE Nonsynonymous SNV P313L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 44918 chr7 94903477 94903477 G A rs61749905 PPP1R9A Nonsynonymous SNV S1058N 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 14.37 44919 chr3 26751736 26751736 C T rs146526715 LRRC3B Synonymous SNV D191D 0.012 0.01 0.017 5 14 4 0.013 5 0 0 0 0 Benign 10.29 44920 chr3 173998955 173998955 C T rs16858840 NLGN1 Synonymous SNV P778P 0.03 0.031 0.02 20 35 12 0.051 6 0 1 0 2 5.802 44921 chr4 107288449 107288449 G A rs2949646 GIMD1 Synonymous SNV S48S 0.236 0.273 0.235 105 277 105 0.269 69 34 18 11 18 13.34 44922 chr4 107845794 107845794 C T rs17037102 DKK2 Nonsynonymous SNV R146Q 0.089 0.104 0.078 31 104 40 0.079 23 2 1 1 1 26.8 44923 chr7 95499234 95499234 A G rs3757697 DYNC1I1 Synonymous SNV Q118Q 0.087 0.089 0.092 27 102 34 0.069 27 5 3 0 1 6.867 44924 chr7 96635420 96635420 - GCC rs559903070 DLX6 P53_Q54insP 0.212 0.227 0.252 67 249 87 0.172 74 42 12 11 8 44925 chr7 97847040 97847040 G A rs2279676 TECPR1 Synonymous SNV H1116H 0.108 0.109 0.061 34 127 42 0.087 18 5 3 1 0 6.195 44926 chr7 97852399 97852399 G A rs11762014 TECPR1 Nonsynonymous SNV P944L 0.111 0.109 0.065 34 130 42 0.087 19 6 3 1 0 14.95 44927 chr7 97873994 97873994 G A rs1874344 TECPR1 Synonymous SNV Y140Y 0.183 0.195 0.112 55 215 75 0.141 33 19 10 1 5 2.033 44928 chr3 46729697 46729697 C A rs139496961 ALS2CL Stop gain E65X 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 35 44929 chr7 99500899 99500899 T C rs2247762 TRIM4 Synonymous SNV V261V 0.399 0.362 0.374 133 468 139 0.341 110 77 26 22 21 0.364 44930 chr4 1087487 1087487 G A rs60035268 RNF212 Stop gain Q188X 0.099 0.076 0.092 32 116 29 0.082 27 12 2 2 1 Benign 2.038 44931 chr3 53899276 53899276 C T rs1043261 IL17RB Stop gain Q484X 0.093 0.081 0.092 27 109 31 0.069 27 2 2 1 0 37 44932 chr7 99569394 99569394 G A rs4215 AZGP1 Synonymous SNV I104I 0.434 0.464 0.459 183 509 178 0.469 135 106 47 35 37 11.49 44933 chr3 33059981 33059981 G A rs34421970 GLB1 Nonsynonymous SNV L305F 0.016 0.01 0.007 9 19 4 0.023 2 0 0 0 0 Benign/Likely benign 0.001 44934 chr3 52426643 52426643 G A rs201752275 DNAH1 Nonsynonymous SNV V3406I 0.017 0.021 0.003 4 20 8 0.01 1 0 0 0 0 Likely benign 26.5 44935 chr7 99662512 99662515 TAGT - rs56833874 ZNF3 T62Rfs*4 0.242 0.219 0.245 83 284 84 0.213 72 25 12 9 9 44936 chr4 109745336 109745336 T G rs7689008 COL25A1 Synonymous SNV G616G 0.34 0.328 0.316 145 399 126 0.372 93 73 21 14 18 8.872 44937 chr16 48130781 48130781 C T rs36102575 ABCC12 Stop gain W1024X 0.04 0.052 0.034 15 47 20 0.038 10 1 0 0 1 41 44938 chr7 99669327 99669327 A G rs367813555 ZNF3 Synonymous SNV D267D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.664 44939 chr3 53910109 53910109 - G rs370490982 ACTR8 0.118 0.096 0.119 30 139 37 0.077 35 5 3 1 1 44940 chr7 99695358 99695358 G C rs531721476 MCM7 Nonsynonymous SNV F156L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.401 44941 chr7 99696797 99696797 T C rs2070215 MCM7 Nonsynonymous SNV N144S 0.24 0.221 0.248 83 282 85 0.213 73 25 12 9 9 0.003 44942 chr15 90190206 90190206 G A rs369168569 KIF7 Nonsynonymous SNV P548L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Uncertain significance 12.47 44943 chr3 57528503 57528503 A G rs9311651 DNAH12 Nonsynonymous SNV V32A 0.074 0.065 0.122 40 87 25 0.103 36 5 0 0 4 0.036 44944 chr3 52469941 52469941 G T rs149805640 SEMA3G Nonsynonymous SNV A676D 0.017 0.021 0.003 4 20 8 0.01 1 0 0 0 0 22.1 44945 chr7 99799845 99799845 T A rs1043915 STAG3 Synonymous SNV I757I 0.235 0.195 0.245 73 276 75 0.187 72 24 10 9 6 10.01 44946 chr3 47044740 47044740 A C rs140548682 NBEAL2 Synonymous SNV P1853P 0.019 0.023 0.02 10 22 9 0.026 6 1 0 0 0 Benign 8.543 44947 chr3 33728610 33728610 A G rs61738888 CLASP2 Nonsynonymous SNV L163P 0.055 0.044 0.156 29 65 17 0.074 46 12 3 5 7 29.3 44948 chr15 90226848 90226848 G A rs35830428 PEX11A Synonymous SNV S23S 0.06 0.065 0.058 18 70 25 0.046 17 1 1 0 0 2.397 44949 chr3 36898241 36898241 C T rs201862568 TRANK1 Nonsynonymous SNV R947H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 44950 chr3 36898381 36898381 G A rs41511748 TRANK1 Synonymous SNV I900I 0.039 0.039 0.051 11 46 15 0.028 15 2 0 0 0 10.16 44951 chr3 183584440 183584440 T C rs143742046 PARL Synonymous SNV P145P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 5.572 44952 chr3 183754660 183754660 C T rs7628229 HTR3D Synonymous SNV N164N 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 2.997 44953 chr8 103238260 103238260 G A rs28999710 RRM2B Synonymous SNV V17V 0.006 0.01 0.02 8 7 4 0.021 6 0 0 0 0 Benign 8.558 44954 chr16 53686695 53686695 T C rs770013793 RPGRIP1L Nonsynonymous SNV Y635C 0 0 0 0 0 0 0 0 0 0 0 0 25.5 44955 chr3 57232829 57232829 C G rs544122726 HESX1 Nonsynonymous SNV L103F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 44956 chr3 67411103 67411103 C T rs902320 SUCLG2 Nonsynonymous SNV V425I 0.154 0.141 0.146 60 181 54 0.154 43 11 3 5 3 Benign 11.59 44957 chr3 57269608 57269608 A G rs11544592 APPL1 Synonymous SNV L23L 0.022 0.044 0.034 11 26 17 0.028 10 0 0 1 0 5.175 44958 chr3 67411166 67411166 A G rs902321 SUCLG2 Nonsynonymous SNV Y404H 0.308 0.315 0.313 135 362 121 0.346 92 59 18 18 18 Benign 1.194 44959 chr3 36898036 36898036 G A rs62245253 TRANK1 Synonymous SNV Y1015Y 0.07 0.065 0.041 23 82 25 0.059 12 3 0 0 0 0.005 44960 chr3 47545916 47545916 C T rs201253001 ELP6 Nonsynonymous SNV R76Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 44961 chr15 90347738 90347738 G A rs140528550 ANPEP Synonymous SNV Y336Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.321 44962 chr3 38043904 38043904 T C rs9843296 VILL Synonymous SNV H296H 0.159 0.141 0.15 61 187 54 0.156 44 18 4 4 1 0.004 44963 chr8 103841709 103841709 G A rs62522600 AZIN1 Synonymous SNV Y342Y 0.031 0.023 0.037 11 36 9 0.028 11 0 0 0 0 0.043 44964 chr15 90610807 90610807 C A rs74038806 ZNF710 Synonymous SNV G146G 0.117 0.102 0.095 51 137 39 0.131 28 11 3 3 5 3.65 44965 chr3 38047993 38047993 C G rs367991919 VILL Synonymous SNV A550A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.55 44966 chr3 38058126 38058126 C T rs372740772 PLCD1 Nonsynonymous SNV R116H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 44967 chr3 38316517 38316517 C T rs41285119 SLC22A13 Synonymous SNV A225A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 44968 chr8 104145044 104145044 G A rs72671342 LINC01181 0 0 0.126 0 0 0 0 37 0 0 2 0 2.733 44969 chr8 104166902 104166902 - C rs35605502 MIR3151 0 0 0.997 0 0 0 0 293 0 0 146 0 44970 chr4 115749005 115749005 C T rs6843860 NDST4 Synonymous SNV S862S 0.149 0.148 0.167 69 175 57 0.177 49 16 3 6 8 18.18 44971 chr3 73111364 73111364 A G rs371350037 EBLN2 Synonymous SNV Q44Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.211 44972 chr3 58145348 58145348 T C rs116826041 FLNB Nonsynonymous SNV I2295T 0.022 0.021 0.014 7 26 8 0.018 4 0 0 0 0 Benign/Likely benign 28.8 44973 chr4 118975146 118975146 C T rs13152576 NDST3 Synonymous SNV I27I 0.186 0.172 0.156 71 218 66 0.182 46 18 8 3 5 11.4 44974 chr4 119219909 119219909 C A rs28661939 PRSS12 Nonsynonymous SNV A606S 0.149 0.128 0.116 46 175 49 0.118 34 14 6 1 4 Likely benign 15.33 44975 chr3 38240280 38240280 A G rs35279632 OXSR1 Synonymous SNV E120E 0.018 0.01 0.014 2 21 4 0.005 4 1 0 0 0 11.25 44976 chr16 56508860 56508860 A G rs776295158 OGFOD1 Nonsynonymous SNV E431G 0 0 0 0 0 0 0 0 0 0 0 0 23 44977 chr3 48419898 48419898 G A rs79525977 FBXW12 Nonsynonymous SNV R147Q 0.04 0.026 0.058 20 47 10 0.051 17 2 0 1 0 0.015 44978 chr3 74315765 74315765 T G rs144881079 CNTN3 Nonsynonymous SNV Q951H 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.027 44979 chr3 53326721 53326721 G C DCP1A Nonsynonymous SNV P95R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.487 44980 chr8 10467589 10467589 T C rs9657518 RP1L1 Nonsynonymous SNV E1340G 0.143 0.172 0.177 66 168 66 0.169 52 20 9 6 12 Benign 9.384 44981 chr3 74344356 74344356 T G rs10490832 CNTN3 Synonymous SNV A811A 0.171 0.133 0.122 59 201 51 0.151 36 19 4 1 6 8.074 44982 chr8 10467971 10467971 T C RP1L1 Nonsynonymous SNV S1213G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 44983 chr3 59997112 59997112 G A rs1130972 FHIT Synonymous SNV A32A 0.093 0.089 0.085 28 109 34 0.072 25 8 1 4 3 9.935 44984 chr3 62578336 62578336 C T rs17066673 CADPS Synonymous SNV A471A 0.064 0.073 0.065 23 75 28 0.059 19 1 2 0 0 21.4 44985 chr8 10469030 10469030 G A rs62490856 RP1L1 Nonsynonymous SNV R860W 0.123 0.154 0.17 49 144 59 0.126 50 4 2 6 4 Benign 17.4 44986 chr3 48688400 48688400 G A rs141355499 CELSR3 Nonsynonymous SNV R2099C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 44987 chr3 185390367 185390367 G A rs771848248 IGF2BP2 Nonsynonymous SNV R252C 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 31 44988 chr8 10469340 10469340 G A rs57819090 RP1L1 Synonymous SNV N756N 0.123 0.154 0.19 49 144 59 0.126 56 4 2 6 4 Benign 0.349 44989 chr4 120419806 120419806 G A rs140289122 PDE5A Stop gain Q860X 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 40 44990 chr3 49095051 49095051 T C rs774037516 QRICH1 Synonymous SNV Q194Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.077 44991 chr3 38793940 38793940 A G rs7630989 SCN10A Nonsynonymous SNV S509P 0.044 0.039 0.044 19 52 15 0.049 13 3 0 0 1 Benign 0.492 44992 chr3 54952678 54952678 C A rs147753980 LRTM1 Synonymous SNV L206L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.56 44993 chr8 105496636 105496645 ATTGAAAGTA - rs139528851 MIR548A3 0 0 0.095 0 0 0 0 28 0 0 1 0 44994 chr8 107773709 107773709 T C rs758965041 ABRA Synonymous SNV K234K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.07 44995 chr3 64587818 64587818 G A rs6771712 ADAMTS9 Synonymous SNV I1245I 0.037 0.042 0.054 16 44 16 0.041 16 1 0 1 0 15.12 44996 chr16 57060097 57060097 C T rs61738710 NLRC5 Synonymous SNV L414L 0.037 0.023 0.037 16 43 9 0.041 11 1 0 2 0 11.02 44997 chr3 8590313 8590313 T C rs3088339 LMCD1 Synonymous SNV G76G 0.137 0.138 0.129 52 161 53 0.133 38 11 3 4 3 0.044 44998 chr4 122250734 122250734 A G rs2302310 QRFPR Nonsynonymous SNV L344S 0.177 0.117 0.16 54 208 45 0.138 47 18 3 3 1 21.1 44999 chr3 186389559 186389559 T C rs10770 HRG Nonsynonymous SNV I180T 0.129 0.112 0.156 55 151 43 0.141 46 11 2 7 3 13.1 45000 chr3 56650012 56650012 G C rs4681904 CCDC66 Nonsynonymous SNV E559Q 0.196 0.156 0.15 75 230 60 0.192 44 26 2 3 9 17.64 45001 chr8 110445359 110445359 T C rs776499325 PKHD1L1 Nonsynonymous SNV L1085P 0 0 0.007 0 0 0 0 2 0 0 0 0 28.2 45002 chr3 49452269 49452269 G A rs142840341 TCTA Nonsynonymous SNV E96K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 45003 chr3 56650054 56650054 - CTC rs112267342 CCDC66 S573_K574insP 0.194 0.156 0.16 75 228 60 0.192 47 25 2 3 9 45004 chr3 89498428 89498428 G A rs1398197 EPHA3 Synonymous SNV K800K 0.069 0.099 0.065 32 81 38 0.082 19 1 1 3 3 12.15 45005 chr3 38949471 38949471 C T rs13059805 SCN11A Nonsynonymous SNV G481E 0.017 0.008 0.007 8 20 3 0.021 2 0 0 0 0 Benign 8.323 45006 chr3 56695022 56695022 G A rs78444456 TASOR Nonsynonymous SNV T395I 0.003 0.003 0.01 0 3 1 0 3 0 0 1 0 10.83 45007 chr16 57685388 57685388 A G rs749940723 ADGRG1 Nonsynonymous SNV D119G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.178 45008 chr8 110498978 110498978 G A rs200880307 PKHD1L1 Nonsynonymous SNV G3270S 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 19.9 45009 chr4 123302329 123302329 A G rs200548828 ADAD1 Nonsynonymous SNV T119A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.17 45010 chr3 49689642 49689642 C T rs150021639 BSN Nonsynonymous SNV P885S 0.011 0.003 0.02 4 13 1 0.01 6 0 0 0 1 7.357 45011 chr4 123377482 123377482 C A rs2069763 IL2 Synonymous SNV L38L 0.224 0.219 0.238 84 263 84 0.215 70 29 10 8 7 16.63 45012 chr8 11282020 11282020 G A rs149662282 FAM167A Synonymous SNV Y169Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.431 45013 chr8 11292542 11292542 C T rs2280803 FAM167A-AS1 0 0 0.52 0 0 0 0 153 0 0 51 0 0.29 45014 chr3 39307162 39307162 G A rs3732378 CX3CR1 Nonsynonymous SNV T280M 0.172 0.167 0.129 54 202 64 0.138 38 15 5 2 4 no interpretation for the single variant 17.43 45015 chr8 11296091 11296091 G A rs1057750 FAM167A-AS1 0 0 0.656 0 0 0 0 193 0 0 65 0 3.498 45016 chr3 49737954 49737954 G A rs35620248 RNF123 Nonsynonymous SNV R387Q 0.05 0.049 0.068 21 59 19 0.054 20 1 1 1 1 26.8 45017 chr16 57738810 57738810 T A rs58373934 DRC7 Nonsynonymous SNV V176E 0.09 0.112 0.102 33 106 43 0.085 30 5 2 4 1 0.005 45018 chr8 113655752 113655752 T C rs10505168 MIR2053 0 0 0.248 0 0 0 0 73 0 0 10 0 10.06 45019 chr3 97593380 97593380 G A rs2279898 CRYBG3 Synonymous SNV T1114T 0.102 0.094 0.102 35 120 36 0.09 30 3 4 3 2 6.908 45020 chr8 114186003 114186003 T C rs2219898 CSMD3 Nonsynonymous SNV I219M 0.254 0.26 0.259 103 298 100 0.264 76 39 14 6 10 16.16 45021 chr3 69082708 69082708 C G rs1532918 TMF1 Nonsynonymous SNV D801H 0.16 0.138 0.156 55 188 53 0.141 46 11 4 1 4 31 45022 chr8 11619163 11619163 A G rs809204 C8orf49 Nonsynonymous SNV I81V 0 0 0.357 0 0 0 0 105 0 0 16 0 3.702 45023 chr3 57144291 57144291 G A rs570484286 IL17RD Nonsynonymous SNV S120L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 45024 chr3 49830032 49830032 C T rs61745903 CDHR4 Synonymous SNV T669T 0.051 0.047 0.068 20 60 18 0.051 20 1 1 1 1 10.26 45025 chr8 11619261 11619261 T A rs2740431 C8orf49 Synonymous SNV G113G 0 0 0.925 0 0 0 0 272 0 0 127 0 0.896 45026 chr3 69168747 69168747 A G rs115972674 LMOD3 Synonymous SNV P253P 0.083 0.063 0.054 14 98 24 0.036 16 0 1 0 0 Benign 0.675 45027 chr8 11619334 11619334 C T rs811966 C8orf49 Synonymous SNV L138L 0 0 0.684 0 0 0 0 201 0 0 72 0 7.506 45028 chr4 123814308 123814308 C T rs1048201 NUDT6 Nonsynonymous SNV R209Q 0.164 0.19 0.187 68 192 73 0.174 55 14 11 3 6 35 45029 chr8 11619504 11619504 T A rs809203 C8orf49 Stop gain C194X 0 0 0.357 0 0 0 0 105 0 0 16 0 26.6 45030 chr16 57935443 57935443 C A rs16942445 CNGB1 Nonsynonymous SNV A955S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 16.9 45031 chr8 117887122 117887122 C - rs28365847 RAD21-AS1 0 0 0.323 0 0 0 0 95 0 0 22 0 45032 chr3 57678638 57678638 T C rs61737717 DENND6A Synonymous SNV G36G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 3.885 45033 chr8 118847782 118847782 G A rs11546829 EXT1 Synonymous SNV C355C 0.333 0.336 0.303 131 391 129 0.336 89 67 18 18 23 Benign 12.56 45034 chr3 50214233 50214233 C T rs150956613 SEMA3F Synonymous SNV L95L 0.015 0.013 0.003 10 18 5 0.026 1 0 0 0 0 Benign 19.4 45035 chr15 99500605 99500605 C T rs17847203 IGF1R Synonymous SNV Y1346Y 0.039 0.042 0.014 17 46 16 0.044 4 1 1 0 0 Benign 9.354 45036 chr3 58116478 58116478 C G rs143831841 FLNB Nonsynonymous SNV F1411L 0.01 0.005 0.003 6 12 2 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 45037 chr15 99511873 99511873 G A rs2715423 PGPEP1L Nonsynonymous SNV A142V 0.2 0.201 0.197 93 235 77 0.238 58 22 9 2 13 12.64 45038 chr8 120337453 120337453 G - rs111581208 MIR548AZ 0 0 0.711 0 0 0 0 209 0 0 80 0 45039 chr8 120431506 120431506 G A rs11538929 CCN3 Nonsynonymous SNV R233H 0.116 0.146 0.156 53 136 56 0.136 46 5 2 5 4 18.78 45040 chr3 40558150 40558150 G C rs74970181 ZNF620 Nonsynonymous SNV Q241H 0.032 0.026 0.014 12 37 10 0.031 4 0 0 0 0 12.71 45041 chr3 58191242 58191242 C G rs17058970 DNASE1L3 Synonymous SNV R92R 0.032 0.023 0.058 15 38 9 0.038 17 0 0 1 0 12.1 45042 chr8 120744349 120744349 T C rs956748 TAF2 Nonsynonymous SNV T1139A 0.044 0.044 0.048 19 52 17 0.049 14 2 0 2 2 0.007 45043 chr3 40573744 40573744 A G rs35633370 ZNF621 Synonymous SNV R161R 0.036 0.023 0.02 14 42 9 0.036 6 1 0 0 0 0.421 45044 chr8 120744399 120744399 C T rs956749 TAF2 Nonsynonymous SNV S1122N 0.035 0.029 0.031 19 41 11 0.049 9 1 0 0 2 9.121 45045 chr3 51930850 51930850 T C rs57859638 IQCF1 Nonsynonymous SNV K57E 0.151 0.141 0.126 58 177 54 0.149 37 19 5 3 4 0.002 45046 chr3 42166936 42166936 C T rs199746888 TRAK1 Nonsynonymous SNV P39L 0.003 0 0 0 4 0 0 0 0 0 0 0 30 45047 chr3 81692085 81692085 C T rs28763902 GBE1 Nonsynonymous SNV G280D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 28.1 45048 chr8 123964431 123964431 G A rs3204141 ZHX2 Synonymous SNV S227S 0.327 0.346 0.323 141 384 133 0.362 95 65 28 15 27 1.781 45049 chr3 193210749 193210749 G T rs149579644 ATP13A4 Nonsynonymous SNV Q164K 0.003 0.016 0.003 0 3 6 0 1 0 0 0 0 9.655 45050 chr8 123964953 123964953 C T rs3808600 ZHX2 Synonymous SNV T401T 0.325 0.344 0.32 141 382 132 0.362 94 64 27 15 27 0.081 45051 chr3 42700697 42700697 G A rs138358868 ZBTB47 Nonsynonymous SNV E284K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.32 45052 chr3 8591575 8591575 G A rs73135678 LMCD1 Nonsynonymous SNV V247M 0.019 0.031 0.024 5 22 12 0.013 7 0 1 0 0 0.038 45053 chr3 99885236 99885236 A G rs11537817 CMSS1 Nonsynonymous SNV E120G 0.025 0.023 0.007 7 29 9 0.018 2 0 0 0 0 24.4 45054 chr8 124121798 124121798 A G rs16897969 TBC1D31 Nonsynonymous SNV H3R 0.208 0.242 0.235 90 244 93 0.231 69 29 20 11 11 0.695 45055 chr3 8672496 8672496 C T rs757266021 SSUH2 Nonsynonymous SNV V174I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 45056 chr8 124206324 124206324 G A rs7813708 FAM83A Nonsynonymous SNV A181T 0.214 0.169 0.218 84 251 65 0.215 64 22 4 9 8 12.53 45057 chr3 43732496 43732496 G A rs141365045 ABHD5 Synonymous SNV E4E 0.025 0.034 0.017 7 29 13 0.018 5 2 1 0 0 Benign 8.547 45058 chr3 64184666 64184666 G C rs78697734 PRICKLE2-AS3 0.012 0 0.007 1 14 0 0.003 2 0 0 0 0 2.975 45059 chr15 101109598 101109598 C T rs74039425 LINS1 Nonsynonymous SNV G707R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.15 45060 chr16 67208109 67208109 G C rs2233457 NOL3 Nonsynonymous SNV D13H 0.014 0.016 0.014 4 16 6 0.01 4 1 0 0 0 23.9 45061 chr15 101113954 101113954 G A rs143097819 LINS1 Nonsynonymous SNV T375I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 45062 chr4 130032843 130032843 A G rs17351999 C4orf33 Nonsynonymous SNV H166R 0.194 0.203 0.207 70 228 78 0.179 61 28 11 5 7 25.4 45063 chr16 67572934 67572934 A G rs150369207 RIPOR1 Nonsynonymous SNV Q104R 0.003 0.016 0.003 2 4 6 0.005 1 0 1 0 0 23.4 45064 chr15 101529511 101529511 A G rs113989128 LRRK1 Nonsynonymous SNV I224V 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Likely benign 16.17 45065 chr16 67579659 67579659 C T rs75099993 RIPOR1 Synonymous SNV L1099L 0.009 0.016 0.003 5 10 6 0.013 1 0 1 0 0 12.69 45066 chr16 67654677 67654677 C T rs143837268 CTCF Synonymous SNV S60S 0.003 0.016 0.003 2 4 6 0.005 1 0 1 0 0 Benign 14.76 45067 chr3 89521725 89521725 T C rs1054750 EPHA3 Synonymous SNV G934G 0.191 0.167 0.146 65 224 64 0.167 43 20 7 3 7 6.701 45068 chr3 42956790 42956790 C T rs145955628 ZNF662 Nonsynonymous SNV R435C 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 16.19 45069 chr16 67763296 67763296 C G rs138394220 RANBP10 Synonymous SNV S296S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.92 45070 chr16 67876806 67876829 CAGCAGCAGCAGCAGCAACAGCAG - rs750882791 THAP11 Q125_Q132del 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 45071 chr3 93772073 93772073 G A rs142510905 ARL13B Nonsynonymous SNV R311Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 26.1 45072 chr15 101718784 101718784 G A rs113219895 CHSY1 Synonymous SNV D406D 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Benign/Likely benign 6.637 45073 chr16 67917958 67917958 G A rs34607252 EDC4 Synonymous SNV Q1371Q 0.049 0.042 0.075 17 58 16 0.044 22 2 0 1 1 15.69 45074 chr15 101814816 101814816 C A rs79140824 SELENOS Nonsynonymous SNV G130V 0.013 0.023 0.017 4 15 9 0.01 5 0 0 0 0 Benign 22.5 45075 chr8 125463250 125463250 T C rs3812475 TRMT12 Nonsynonymous SNV W28R 0.52 0.5 0.537 180 610 192 0.462 158 152 48 41 43 0.293 45076 chr15 101835306 101835306 G C rs61738984 SNRPA1 Synonymous SNV L26L 0.023 0.042 0.034 7 27 16 0.018 10 0 0 0 0 10.12 45077 chr8 125463544 125463544 T C rs11556913 TRMT12 Synonymous SNV L126L 0.364 0.362 0.357 141 427 139 0.362 105 66 26 18 30 0.634 45078 chr3 52874530 52874530 G A rs202059926 STIMATE, STIMATE-MUSTN1 Nonsynonymous SNV R289C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 45079 chr8 125498547 125498547 C T rs3812471 RNF139 Synonymous SNV Y219Y 0.512 0.487 0.524 178 601 187 0.456 154 146 44 39 43 0.157 45080 chr3 9517369 9517369 C T rs11542009 SETD5 Nonsynonymous SNV T1308I 0.1 0.104 0.119 45 117 40 0.115 35 6 3 3 1 23.3 45081 chr8 125565328 125565328 T C rs3829037 MTSS1 Nonsynonymous SNV T660A 0.17 0.177 0.201 60 200 68 0.154 59 16 6 7 3 0.001 45082 chr3 45518073 45518073 C A rs71645922 LARS2 Nonsynonymous SNV H324Q 0.016 0.008 0.007 1 19 3 0.003 2 0 0 0 0 Benign 18.14 45083 chr8 125568623 125568623 A G rs3829036 MTSS1 Synonymous SNV Y353Y 0.157 0.141 0.156 63 184 54 0.162 46 14 4 2 6 2.183 45084 chr8 128099166 128099166 C T rs7007694 PRNCR1 0 0 0.85 0 0 0 0 250 0 0 110 0 12.39 45085 chr15 102277529 102277529 T G rs145315665 LOC100128108 Nonsynonymous SNV D59A 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 16.94 45086 chr4 100571192 100571192 G T rs560651906 C4orf54 Nonsynonymous SNV N1538K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.38 45087 chr3 43591327 43591327 G A rs17409162 ANO10 Nonsynonymous SNV T450M 0.037 0.031 0.061 6 44 12 0.015 18 0 0 1 0 Benign/Likely benign 23.9 45088 chr4 140640703 140640703 G T rs61747885 MAML3 Nonsynonymous SNV P1064H 0.147 0.151 0.17 50 172 58 0.128 50 9 9 5 3 25.3 45089 chr3 73433134 73433134 G A rs143389102 PDZRN3 Synonymous SNV P559P 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 0.005 45090 chr3 53855738 53855738 G C rs35064726 CHDH Synonymous SNV L307L 0.077 0.063 0.054 26 90 24 0.067 16 0 1 0 1 8.799 45091 chr3 74334560 74334560 C T rs143021649 CNTN3 Nonsynonymous SNV R867Q 0.057 0.049 0.051 25 67 19 0.064 15 0 1 0 0 9.379 45092 chr3 43618280 43618280 T C rs56389778 ANO10 Nonsynonymous SNV S245G 0.036 0.031 0.068 8 42 12 0.021 20 0 0 1 0 Benign/Likely benign 7.203 45093 chr4 101108876 101108876 T - rs58706659 DDIT4L K180Nfs*5 0.107 0.138 0.102 40 126 53 0.103 30 6 4 1 2 45094 chr3 45751090 45751090 G A rs758914104 SACM1L Nonsynonymous SNV R84Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 45095 chr16 315001 315001 C T rs201598421 FAM234A Nonsynonymous SNV R547W 0.011 0.008 0.003 4 13 3 0.01 1 0 0 0 0 33 45096 chr4 101108877 101108877 T C rs201713115 DDIT4L Nonsynonymous SNV K180R 0.108 0.138 0.102 40 127 53 0.103 30 6 4 1 2 22.9 45097 chr4 143324094 143324094 G A rs1982966 INPP4B Synonymous SNV D123D 0.362 0.331 0.33 146 425 127 0.374 97 75 17 14 27 8.309 45098 chr4 144130750 144130750 T C rs7670426 USP38 Synonymous SNV N479N 0.065 0.06 0.054 17 76 23 0.044 16 4 1 1 1 7.08 45099 chr8 12958025 12958025 C A rs3739298 DLC1 Synonymous SNV A96A 0.263 0.276 0.241 118 309 106 0.303 71 39 16 9 15 15.5 45100 chr3 97852066 97852066 T C rs62269701 OR5H1 Synonymous SNV H175H 0.175 0.185 0.037 66 205 71 0.169 11 0 0 0 0 0.005 45101 chr8 130496365 130496365 G A rs6997249 MIR3686 0 0 0.218 0 0 0 0 64 0 0 6 0 2.452 45102 chr8 130760774 130760774 C T rs4733559 GSDMC Synonymous SNV S500S 0.182 0.188 0.173 67 214 72 0.172 51 23 8 1 5 11.78 45103 chr16 68894352 68894352 T C TANGO6 Synonymous SNV F220F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.054 45104 chr8 130762291 130762291 G A rs77681114 GSDMC Synonymous SNV N386N 0.023 0.023 0.027 10 27 9 0.026 8 0 0 0 0 0.571 45105 chr3 54676166 54676166 G A rs376273944 CACNA2D3 Synonymous SNV T355T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 45106 chr16 69493004 69493004 A C rs34661695 CYB5B Synonymous SNV S114S 0.09 0.107 0.119 49 106 41 0.126 35 5 3 3 2 0.426 45107 chr3 46008554 46008554 G A rs777668894 FYCO1 Nonsynonymous SNV P758S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.012 45108 chr4 103534740 103534740 - A rs148268461 NFKB1 0.037 0.021 0.048 21 43 8 0.054 14 3 0 2 1 45109 chr16 69726254 69726254 G A rs61730074 NFAT5 Synonymous SNV E617E 0.012 0.005 0.017 5 14 2 0.013 5 0 0 0 0 Benign 1.17 45110 chr4 148463632 148463632 A G rs141331809 EDNRA Synonymous SNV S273S 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Benign 12.02 45111 chr3 86996192 86996192 C T rs773253573 VGLL3 Synonymous SNV K268K 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 13.77 45112 chr3 88040035 88040035 G A rs139622628 HTR1F Nonsynonymous SNV A46T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.9 45113 chr4 15004878 15004878 - GCCGCC rs560468327 CPEB2 P201_L202insPP 0.034 0.023 0.048 11 40 9 0.028 14 2 0 0 0 45114 chr16 70285400 70285400 C G rs200071202 EXOSC6 Nonsynonymous SNV R135P 0.036 0.031 0.003 15 42 12 0.038 1 2 0 0 0 24.5 45115 chr4 15004924 15004924 - CCG rs138365074 CPEB2 P214_A215insP 0.036 0.023 0.048 10 42 9 0.026 14 2 0 0 0 45116 chr3 45038633 45038633 C T EXOSC7 Synonymous SNV T103T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 45117 chr4 15063830 15063830 T C rs16891343 CPEB2 Synonymous SNV I906I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.987 45118 chr3 9845587 9845587 T G rs939481687 ARPC4 Nonsynonymous SNV L41V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.17 45119 chr3 98526984 98526984 C T rs202236000 DCBLD2 Synonymous SNV L537L 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 14.23 45120 chr4 10515142 10515142 C T rs114623663 CLNK Synonymous SNV L284L 0.025 0.021 0.031 8 29 8 0.021 9 1 0 1 0 3.639 45121 chr8 133829283 133829283 T G rs772221852 PHF20L1 Nonsynonymous SNV I419S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 45122 chr4 106155751 106155751 G A rs6843141 TET2 Nonsynonymous SNV V218M 0.023 0.018 0.014 7 27 7 0.018 4 0 0 0 0 not provided 3.833 45123 chr4 106158189 106158189 G A rs10516517 TET2 Synonymous SNV Q1030Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 1.255 45124 chr4 106158216 106158216 G A rs3796927 TET2 Synonymous SNV S1039S 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 1.129 45125 chr3 93768268 93768268 C G rs33944211 ARL13B Nonsynonymous SNV T241S 0.156 0.156 0.17 68 183 60 0.174 50 14 3 6 8 Benign 16.11 45126 chr3 196612959 196612959 C T rs151102982 SENP5 Nonsynonymous SNV H303Y 0.015 0.013 0.02 7 18 5 0.018 6 0 0 0 0 22.6 45127 chr4 106190862 106190862 T C rs3733609 TET2 Synonymous SNV H1380H 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 3.481 45128 chr3 9876919 9876919 G A rs1057278 TTLL3 Nonsynonymous SNV A832T 0.099 0.13 0.071 32 116 50 0.082 21 4 4 0 5 19.73 45129 chr3 9876987 9876987 G A rs1057281 TTLL3 Synonymous SNV R854R 0.075 0.091 0.054 23 88 35 0.059 16 3 2 0 3 3.273 45130 chr4 106816865 106816865 C G NPNT Nonsynonymous SNV A19G 0.003 0 0 0 4 0 0 0 0 0 0 0 21.9 45131 chr3 45776753 45776753 A G rs140309045 SACM1L Nonsynonymous SNV Q315R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 12.44 45132 chr3 9515054 9515054 T C rs73026975 SETD5 Synonymous SNV T1110T 0.022 0.023 0.007 1 26 9 0.003 2 1 0 0 0 6.693 45133 chr3 46593062 46593062 A G rs34996741 LRRC2 Nonsynonymous SNV V7A 0.009 0.01 0.017 9 11 4 0.023 5 0 0 0 0 17.56 45134 chr8 134108546 134108546 T C rs2069569 TG Nonsynonymous SNV W2501R 0.557 0.531 0.527 212 654 204 0.544 155 184 53 36 59 Benign 0.005 45135 chr3 9959713 9959713 C T rs4686383 IL17RC Synonymous SNV T78T 0.145 0.161 0.133 42 170 62 0.108 39 17 3 4 3 9.779 45136 chr16 716543 716543 G A rs200445238 WDR90 Nonsynonymous SNV R1610Q 0.001 0.005 0.003 7 1 2 0.018 1 0 0 0 0 12.07 45137 chr16 71663270 71663270 T C rs202067406 MARVELD3 Nonsynonymous SNV V102A 0.012 0.008 0 0 14 3 0 0 0 0 0 0 8.993 45138 chr4 108575989 108575989 G A rs3733633 PAPSS1 Synonymous SNV D321D 0.194 0.169 0.184 76 228 65 0.195 54 13 3 4 3 6.222 45139 chr8 134233024 134233024 G A rs72731540 CCN4 Nonsynonymous SNV V184I 0.046 0.026 0.02 15 54 10 0.038 6 0 0 0 0 9.492 45140 chr3 58574944 58574944 C T rs73091460 FAM107A Nonsynonymous SNV R26Q 0.073 0.068 0.061 34 86 26 0.087 18 5 0 0 1 12.88 45141 chr3 58639465 58639465 T G rs35045921 FAM3D Synonymous SNV T19T 0.062 0.049 0.037 29 73 19 0.074 11 6 1 0 1 1.07 45142 chr8 134296524 134296524 C T rs145871479 NDRG1 Nonsynonymous SNV A11T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.03 45143 chr3 19926053 19926053 T G rs9868950 EFHB Nonsynonymous SNV Q663P 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 0.079 45144 chr3 19940315 19940315 G C rs73188448 EFHB Nonsynonymous SNV P509A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.59 45145 chr16 814058 814058 C T rs9927389 MSLN Nonsynonymous SNV A72V 0.024 0.034 0.048 7 28 13 0.018 14 0 0 0 0 0.265 45146 chr16 839269 839269 G A rs77682584 CHTF18 Nonsynonymous SNV E116K 0.027 0.026 0.068 8 32 10 0.021 20 0 0 2 0 0.041 45147 chr16 72184629 72184629 C T rs217180 PMFBP1 Nonsynonymous SNV A172T 0.055 0.073 0.024 15 65 28 0.038 7 1 0 0 0 11.01 45148 chr4 155410650 155410650 T C rs72731014 DCHS2 Nonsynonymous SNV T620A 0.201 0.193 0.17 73 236 74 0.187 50 25 9 6 9 0.002 45149 chr8 139144914 139144914 G A rs2280848 FAM135B Synonymous SNV A1381A 0.032 0.018 0.051 6 37 7 0.015 15 1 0 0 0 12.21 45150 chr4 110384790 110384790 A G rs33911248 SEC24B Synonymous SNV P289P 0.094 0.068 0.122 47 110 26 0.121 36 5 2 2 4 2.592 45151 chr8 139164570 139164570 C T rs3750307 FAM135B Synonymous SNV P716P 0.196 0.24 0.218 63 230 92 0.162 64 20 9 4 5 9.377 45152 chr16 72821638 72821638 T C rs200561133 ZFHX3 Nonsynonymous SNV S2599G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.03 45153 chr3 97852058 97852058 A G rs62269700 OR5H1 Nonsynonymous SNV I173V 0.156 0.151 0.051 59 183 58 0.151 15 0 0 0 0 0.001 45154 chr4 155410667 155410667 G A rs55810732 DCHS2 Nonsynonymous SNV A614V 0.2 0.193 0.17 73 235 74 0.187 50 25 9 6 9 0.002 45155 chr16 72822296 72822296 G A rs2228199 ZFHX3 Synonymous SNV A2379A 0.055 0.042 0.048 16 65 16 0.041 14 2 1 0 0 10.69 45156 chr16 840599 840599 C T rs59706474 CHTF18 Nonsynonymous SNV A276V 0.037 0.026 0.058 9 43 10 0.023 17 0 0 2 0 2.808 45157 chr4 155410731 155410731 G C rs72731016 DCHS2 Nonsynonymous SNV Q593E 0.202 0.193 0.17 73 237 74 0.187 50 26 9 6 9 0.001 45158 chr16 72830962 72830962 G A rs150096812 ZFHX3 Synonymous SNV H959H 0 0 0 0 0 0 0 0 0 0 0 0 0.037 45159 chr3 21465510 21465510 G A rs150651071 ZNF385D Nonsynonymous SNV P300L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29.2 45160 chr16 841175 841175 C T rs2063911 CHTF18 Synonymous SNV C303C 0.02 0.021 0.031 7 24 8 0.018 9 0 0 0 0 13.55 45161 chr4 100240002 100240002 T C rs1229983 ADH1B Synonymous SNV K20K 0.025 0.021 0.01 5 29 8 0.013 3 0 0 0 0 8.538 45162 chr16 845819 845819 A G rs2294446 CHTF18 Synonymous SNV A770A 0.024 0.026 0.044 13 28 10 0.033 13 0 0 1 0 0.234 45163 chr4 100571566 100571566 T C rs112275946 C4orf54 Nonsynonymous SNV K1414E 0.017 0.01 0.017 1 20 4 0.003 5 0 0 0 0 23.1 45164 chr8 140998945 140998945 G A rs2614718 TRAPPC9 Synonymous SNV G924G 0.033 0.034 0.027 11 39 13 0.028 8 1 0 0 0 Benign/Likely benign 15.45 45165 chr16 847936 847936 C T rs117923274 CHTF18 Synonymous SNV N963N 0.023 0.021 0.031 11 27 8 0.028 9 0 0 0 0 9.118 45166 chr8 141297819 141297819 G A rs117685875 TRAPPC9 Synonymous SNV S614S 0.009 0 0.003 0 11 0 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 12.74 45167 chr3 27244045 27244045 G A rs9823271 NEK10 Synonymous SNV P10P 0.036 0.039 0.051 11 42 15 0.028 15 2 0 0 0 13.84 45168 chr16 72992197 72992197 G A rs61735549 ZFHX3 Synonymous SNV F616F 0.078 0.07 0.078 29 91 27 0.074 23 5 2 1 1 6.29 45169 chr3 27257232 27257232 G A rs763059195 NEK10 Nonsynonymous SNV P6L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 2.568 45170 chr8 141551407 141551407 G A rs2293939 AGO2 Synonymous SNV R630R 0.279 0.299 0.265 96 328 115 0.246 78 49 20 7 15 12.46 45171 chr3 98002527 98002527 C T rs17787561 OR5H2 Nonsynonymous SNV R266C 0.02 0.01 0.01 8 23 4 0.021 3 0 0 0 0 12.19 45172 chr16 72993708 72993708 C T rs62640010 ZFHX3 Nonsynonymous SNV A113T 0.081 0.063 0.082 32 95 24 0.082 24 8 2 1 1 19.73 45173 chr8 141780818 141780818 T C rs79812711 PTK2 Nonsynonymous SNV T307A 0.072 0.052 0.126 22 84 20 0.056 37 6 2 1 2 16.02 45174 chr3 47036565 47036565 G A rs17079425 NBEAL2 Nonsynonymous SNV R413H 0.029 0.018 0.031 7 34 7 0.018 9 0 0 0 0 Benign 13.62 45175 chr3 47036578 47036578 G A rs115611407 NBEAL2 Synonymous SNV P417P 0.03 0.018 0.031 7 35 7 0.018 9 0 0 0 0 Benign 8.653 45176 chr16 1129010 1129010 C A rs4988483 SSTR5 Nonsynonymous SNV L48M 0.037 0.036 0.068 23 44 14 0.059 20 1 0 0 1 15.59 45177 chr4 111469475 111469475 T C ENPEP Nonsynonymous SNV M715T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.715 45178 chr3 72897459 72897459 A C rs146220182 SHQ1 Nonsynonymous SNV D11E 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 Likely benign 6.954 45179 chr3 47043238 47043238 C T rs12489851 NBEAL2 Synonymous SNV N1534N 0.029 0.018 0.031 7 34 7 0.018 9 0 0 0 0 Benign 11.85 45180 chr4 111539437 111539437 C T rs148191851 PITX2 Synonymous SNV P273P 0.003 0.013 0.003 3 3 5 0.008 1 0 0 0 0 Benign/Likely benign 14.12 45181 chr4 156296996 156296996 C G rs148062712 MAP9 Nonsynonymous SNV D3H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 45182 chr3 47098506 47098506 G A rs147243526 SETD2 Synonymous SNV V2212V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.86 45183 chr3 73111724 73111724 T G rs2231925 EBLN2 Stop gain Y164X 0.011 0.021 0.01 9 13 8 0.023 3 0 0 0 0 25.7 45184 chr16 75238068 75238068 G A rs1049303 CTRB2 Synonymous SNV A261A 0.076 0.052 0.082 22 89 20 0.056 24 5 1 1 0 15.01 45185 chr4 156721198 156721198 C T rs2229202 GUCY1B1 Synonymous SNV L315L 0.145 0.146 0.122 57 170 56 0.146 36 16 3 1 3 14.78 45186 chr3 47162886 47162886 C T rs76208147 SETD2 Nonsynonymous SNV M1036I 0.029 0.018 0.031 7 34 7 0.018 9 0 0 0 0 not provided 14.9 45187 chr3 47539870 47539870 T C rs149565751 ELP6 Nonsynonymous SNV N193S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.744 45188 chr3 47288905 47288905 G A rs3821879 KIF9 Synonymous SNV S397S 0.029 0.018 0.031 7 34 7 0.018 9 0 0 0 0 10.96 45189 chr8 142228149 142228149 G A rs12679446 SLC45A4 Synonymous SNV T479T 0.135 0.128 0.173 62 159 49 0.159 51 9 6 3 7 10.44 45190 chr8 142228686 142228686 G A rs3739237 SLC45A4 Synonymous SNV L300L 0.137 0.13 0.17 62 161 50 0.159 50 9 6 3 7 0.15 45191 chr8 142229834 142229834 G A rs2304280 SLC45A4 Synonymous SNV T124T 0.135 0.128 0.173 62 159 49 0.159 51 9 6 3 7 5.777 45192 chr16 75675609 75675609 T C rs5030748 KARS1 Synonymous SNV R25R 0.095 0.052 0.088 34 112 20 0.087 26 1 1 1 1 Benign 4.935 45193 chr4 113482146 113482146 G A rs17605622 ZGRF1 Nonsynonymous SNV S1510L 0.1 0.102 0.099 46 117 39 0.118 29 7 2 0 4 12.45 45194 chr8 142367087 142367087 C T rs34591516 GPR20 Nonsynonymous SNV G313S 0.115 0.107 0.092 40 135 41 0.103 27 7 0 2 1 3.126 45195 chr4 113524723 113524723 G A rs17669218 ZGRF1 Nonsynonymous SNV T978I 0.102 0.104 0.099 46 120 40 0.118 29 7 2 0 4 12.09 45196 chr3 32933036 32933036 G A rs13096271 TRIM71 Synonymous SNV S780S 0.107 0.117 0.092 45 126 45 0.115 27 5 3 1 2 2.334 45197 chr8 143257760 143257760 G C rs28655823 MIR4472-1 0 0 0.071 0 0 0 0 21 0 0 1 0 1.491 45198 chr8 143353038 143353038 C T rs35674714 TSNARE1 Synonymous SNV T268T 0.172 0.182 0.156 78 202 70 0.2 46 21 7 4 7 12.96 45199 chr3 35730851 35730851 G A ARPP21 Synonymous SNV L153L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 45200 chr4 162508645 162508645 T C rs144353284 FSTL5 Nonsynonymous SNV Y325C 0.011 0.003 0 1 13 1 0.003 0 0 0 0 0 26.6 45201 chr8 143545853 143545853 C T rs772334118 ADGRB1 Synonymous SNV R98R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 45202 chr3 36931397 36931397 C T rs74424604 TRANK1 Nonsynonymous SNV R233H 0.018 0.021 0.02 8 21 8 0.021 6 0 1 0 0 22.8 45203 chr3 49693338 49693340 AGT - rs768574939 BSN S2117del 0.001 0 0 0 1 0 0 0 0 0 0 0 45204 chr8 143740311 143740311 A C rs117839538 JRK Nonsynonymous SNV L543V 0.032 0.029 0.034 21 37 11 0.054 10 1 0 1 0 0.069 45205 chr8 143745981 143745981 G A rs35419434 JRK Nonsynonymous SNV R499C 0.032 0.029 0.031 21 37 11 0.054 9 1 0 0 0 5.141 45206 chr3 37560842 37560842 A G rs61751646 ITGA9 Synonymous SNV S411S 0.016 0.016 0.017 7 19 6 0.018 5 1 0 0 0 8.216 45207 chr4 164394545 164394545 G C rs34405980 TKTL2 Synonymous SNV P114P 0.033 0.029 0.01 3 39 11 0.008 3 1 0 0 0 0.004 45208 chr8 143746365 143746365 G A rs3802234 JRK Synonymous SNV N371N 0.032 0.029 0.034 21 37 11 0.054 10 1 0 1 0 5.451 45209 chr8 143747097 143747097 C T rs34800931 JRK Synonymous SNV E127E 0.032 0.029 0.034 21 37 11 0.054 10 1 0 1 0 14.62 45210 chr4 109841743 109841743 C T rs17596705 COL25A1 Synonymous SNV P238P 0.153 0.164 0.153 59 180 63 0.151 45 15 6 0 7 18.06 45211 chr8 143747389 143747389 G A rs34288113 JRK Nonsynonymous SNV T30M 0.032 0.029 0.031 21 37 11 0.054 9 1 0 0 0 13.51 45212 chr4 109863370 109863370 C T rs17531474 COL25A1 Nonsynonymous SNV V183I 0.093 0.099 0.092 37 109 38 0.095 27 4 3 1 6 20.7 45213 chr4 110402835 110402835 G A rs751535639 SEC24B Nonsynonymous SNV V355M 0.003 0.01 0 0 4 4 0 0 0 0 0 0 8.491 45214 chr3 48659009 48659009 G T rs9834639 TMEM89 Nonsynonymous SNV P61T 0.096 0.13 0.102 39 113 50 0.1 30 7 4 2 1 13.65 45215 chr16 1537458 1537458 G T rs2745099 PTX4 Nonsynonymous SNV H214N 0.043 0.049 0.102 27 50 19 0.069 30 1 2 0 2 0.03 45216 chr8 143922620 143922620 C T rs3764795 GML Nonsynonymous SNV R54C 0.048 0.055 0.075 17 56 21 0.044 22 2 0 1 2 25 45217 chr4 165962378 165962378 T C rs780098349 TRIM60 Nonsynonymous SNV F385S 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 21.9 45218 chr3 48669447 48669447 C T rs13324142 SLC26A6 Nonsynonymous SNV V185M 0.127 0.156 0.122 49 149 60 0.126 36 16 5 3 1 25.6 45219 chr8 144099678 144099678 G A rs17061979 LY6E-DT 0.033 0.031 0.034 17 39 12 0.044 10 2 0 0 1 4.225 45220 chr8 144102747 144102747 C T rs11547127 LY6E Synonymous SNV C23C 0.04 0.039 0.037 23 47 15 0.059 11 2 0 0 1 12.01 45221 chr8 144124609 144124609 T C rs11136300 C8orf31 0.632 0.641 0.656 224 742 246 0.574 193 236 81 64 65 0.002 45222 chr4 166929102 166929102 G A rs17590218 TLL1 Synonymous SNV E273E 0.06 0.036 0.048 19 71 14 0.049 14 2 0 0 0 8.521 45223 chr4 120982045 120982045 T C rs61752609 MAD2L1 Synonymous SNV P143P 0.047 0.055 0 23 55 21 0.059 0 3 2 0 1 7.764 45224 chr4 110757224 110757224 G A rs61747002 RRH Synonymous SNV L153L 0.021 0.021 0.014 6 25 8 0.015 4 0 0 0 0 10.75 45225 chr4 167656073 167656073 C T rs1057377 SPOCK3 Synonymous SNV X339X 0.204 0.247 0.122 73 239 95 0.187 36 38 19 7 11 1.218 45226 chr8 144358302 144358302 C T rs1056146 GLI4 Synonymous SNV A153A 0.296 0.302 0.221 123 348 116 0.315 65 51 16 16 20 16.78 45227 chr4 110757287 110757287 G A rs61744555 RRH Synonymous SNV T174T 0.031 0.042 0.02 14 36 16 0.036 6 0 0 0 0 12.51 45228 chr4 110791361 110791361 G A rs2347131 LRIT3 Nonsynonymous SNV A486T 0.126 0.164 0.129 45 148 63 0.115 38 11 6 5 3 Benign 1.94 45229 chr8 144403485 144403485 G C rs11544482 TOP1MT Synonymous SNV R246R 0.319 0.323 0.32 127 375 124 0.326 94 55 16 16 20 7.121 45230 chr8 144406705 144406705 C T rs11544484 TOP1MT Nonsynonymous SNV V158I 0.32 0.323 0.316 125 376 124 0.321 93 55 16 15 19 0.004 45231 chr4 110791413 110791413 C T rs2347132 LRIT3 Nonsynonymous SNV T503M 0.126 0.164 0.129 45 148 63 0.115 38 11 6 5 3 Benign 0.025 45232 chr4 122301622 122301622 A C rs17438900 QRFPR Nonsynonymous SNV F61V 0.17 0.182 0.197 64 199 70 0.164 58 10 8 8 4 11.15 45233 chr4 110791543 110791543 C T rs2347133 LRIT3 Synonymous SNV P546P 0.127 0.164 0.129 45 149 63 0.115 38 11 6 5 3 Benign 13.22 45234 chr4 122590824 122590824 A G rs17851665 ANXA5 Nonsynonymous SNV I279T 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 22.9 45235 chr3 50323960 50323960 C T rs148042351 LSMEM2 Synonymous SNV H39H 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 8.775 45236 chr3 49039984 49039984 A G rs140290144 P4HTM Nonsynonymous SNV I227V 0.015 0.023 0.02 7 18 9 0.018 6 0 0 0 0 22.1 45237 chr8 144623574 144623574 T C rs2242093 ZC3H3 Nonsynonymous SNV I6M 0.17 0.128 0.17 69 200 49 0.177 50 15 3 5 6 16.09 45238 chr4 101108978 101108978 T C rs140082687 DDIT4L Synonymous SNV S146S 0.024 0.008 0.02 8 28 3 0.021 6 0 0 1 0 4.703 45239 chr8 144639954 144639954 T G rs4266665 LOC100310756 0.352 0.331 0.313 140 413 127 0.359 92 84 18 16 26 1.657 45240 chr4 113351822 113351822 G A rs61747381 ALPK1 Synonymous SNV G295G 0.043 0.047 0.037 19 51 18 0.049 11 3 0 0 1 0.428 45241 chr8 144641712 144641712 C T rs150212290 GSDMD Synonymous SNV A69A 0 0 0.007 0 0 0 0 2 0 0 0 0 16.12 45242 chr3 97851855 97851855 C A rs150989884 OR5H1 Nonsynonymous SNV A105E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.08 45243 chr8 144649550 144649550 A G rs7010602 MROH6 Synonymous SNV R673R 0.358 0.318 0.861 150 420 122 0.385 253 209 61 125 75 0.01 45244 chr3 50598396 50598396 G A rs41291736 C3orf18 Synonymous SNV D120D 0.123 0.148 0.17 54 144 57 0.138 50 11 5 8 3 4.975 45245 chr4 103189036 103189036 G A rs17823966 SLC39A8 Synonymous SNV H280H 0.037 0.031 0.034 17 44 12 0.044 10 1 0 1 0 1.15 45246 chr4 103527655 103527655 G A rs4648093 NFKB1 Synonymous SNV T584T 0.009 0.021 0.003 6 11 8 0.015 1 0 0 0 0 Benign 0.256 45247 chr3 49200791 49200791 T C CCDC71 Nonsynonymous SNV K284R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 45248 chr4 103611771 103611771 T C rs17033168 MANBA Synonymous SNV L277L 0.01 0.018 0.003 1 12 7 0.003 1 0 0 0 0 Benign/Likely benign 6.05 45249 chr16 1869940 1869940 G A rs146440574 HAGH Synonymous SNV I130I 0 0 0.003 3 0 0 0.008 1 0 0 0 0 10.4 45250 chr4 104013796 104013796 T C rs1054707 BDH2 Nonsynonymous SNV N70S 0.182 0.154 0.167 65 214 59 0.167 49 23 4 3 4 0.017 45251 chr4 125631199 125631199 T C rs6820002 ANKRD50 Synonymous SNV L156L 0.041 0.023 0.017 12 48 9 0.031 5 2 0 0 1 0.003 45252 chr8 144671776 144671776 A G rs148745450 EEF1D Nonsynonymous SNV V159A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 45253 chr4 104061993 104061993 C G rs1381657 CENPE Nonsynonymous SNV S1886T 0.211 0.193 0.204 83 248 74 0.213 60 26 8 8 9 0.002 45254 chr3 97888322 97888322 - G rs11408838 OR5H15 Frameshift insertion A263Cfs*33 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 45255 chr3 39135551 39135551 G A rs17852414 WDR48 Synonymous SNV Q562Q 0.033 0.049 0.031 23 39 19 0.059 9 0 2 0 0 9.271 45256 chr3 49350033 49350033 A C rs35446411 USP4 Nonsynonymous SNV L237V 0.006 0.005 0 2 7 2 0.005 0 3 1 0 1 3.792 45257 chr4 104062223 104062223 C T rs1381658 CENPE Synonymous SNV T1809T 0.205 0.18 0.003 75 241 69 0.192 1 26 6 0 5 18.47 45258 chr3 39170370 39170370 C T rs35581078 TTC21A Nonsynonymous SNV R574W 0.033 0.049 0.031 23 39 19 0.059 9 0 2 0 0 24.8 45259 chr4 104082349 104082349 C T rs2251634 CENPE Synonymous SNV Q650Q 0.432 0.404 0.388 150 507 155 0.385 114 109 35 20 27 11.12 45260 chr3 98001773 98001773 G T rs142169306 OR5H2 Synonymous SNV L14L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.68 45261 chr4 126336703 126336703 T C rs17009618 FAT4 Synonymous SNV N2195N 0.157 0.146 0.136 75 184 56 0.192 40 12 2 4 9 Benign 0.027 45262 chr4 170038894 170038894 A G rs74798922 SH3RF1 Synonymous SNV S519S 0.02 0.029 0.034 3 23 11 0.008 10 0 0 0 0 1.669 45263 chr4 126371814 126371814 C T rs73849225 FAT4 Nonsynonymous SNV H3217Y 0.074 0.068 0.061 35 87 26 0.09 18 1 1 1 0 Benign 22.9 45264 chr16 83933193 83933193 C T rs62640904 MLYCD Synonymous SNV D148D 0.019 0.021 0 7 22 8 0.018 0 0 0 0 0 Benign 18.75 45265 chr4 126372258 126372258 C G FAT4 Nonsynonymous SNV R3365G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 45266 chr16 83999000 83999000 C G rs3743627 OSGIN1 Synonymous SNV A274A 0.067 0.083 0.092 42 79 32 0.108 27 2 0 4 3 3.127 45267 chr4 174219328 174219328 A G rs369007045 GALNT7 Nonsynonymous SNV Q343R 0.004 0 0 0 5 0 0 0 0 0 0 0 23.6 45268 chr8 144800420 144800420 C T rs56186625 MAPK15 Synonymous SNV D78D 0.051 0.063 0.065 31 60 24 0.079 19 1 0 0 2 9.968 45269 chr16 84012137 84012137 G C rs142909103 NECAB2 Nonsynonymous SNV R31P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.108 45270 chr3 49680130 49680130 G A rs148125466 BSN Nonsynonymous SNV A355T 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 Benign 11.7 45271 chr16 84024200 84024200 G A rs143735873 NECAB2 Synonymous SNV A104A 0.02 0.018 0.014 7 23 7 0.018 4 0 0 0 0 12.12 45272 chr4 119745842 119745842 G T rs143180885 SEC24D Nonsynonymous SNV P61T 0.013 0.016 0.007 6 15 6 0.015 2 0 0 0 1 Likely benign 7.217 45273 chr3 49692704 49692704 C T rs138458970 BSN Synonymous SNV Y1905Y 0.015 0.023 0.02 7 18 9 0.018 6 0 0 0 0 Benign 0.409 45274 chr3 9920138 9920138 G C rs17851444 CIDEC Synonymous SNV L11L 0.136 0.135 0.068 53 160 52 0.136 20 9 5 0 5 Likely benign 8.915 45275 chr16 84199444 84199444 C G rs111472069 DNAAF1 Nonsynonymous SNV Q55E 0.014 0.003 0.014 4 17 1 0.01 4 0 0 1 0 Benign/Likely benign 0.002 45276 chr4 119948046 119948046 A C rs17263971 SYNPO2 Nonsynonymous SNV Q174H 0.218 0.232 0.272 96 256 89 0.246 80 29 13 8 11 10.92 45277 chr3 52557486 52557486 C T rs542545521 STAB1 Nonsynonymous SNV T2395I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.4 45278 chr16 84199513 84199513 C A rs112191420 DNAAF1 Synonymous SNV R78R 0.014 0.003 0.014 4 17 1 0.01 4 0 0 1 0 Benign/Likely benign 16.88 45279 chr8 144891768 144891768 C T rs118022661 SCRIB Nonsynonymous SNV A551T 0.073 0.057 0.061 22 86 22 0.056 18 1 1 0 2 3.896 45280 chr4 120181724 120181724 A G rs35372126 USP53 Synonymous SNV T246T 0.262 0.211 0.248 97 308 81 0.249 73 45 15 9 14 5.152 45281 chr3 9985656 9985656 C T rs3774207 CRELD1 Synonymous SNV H377H 0.256 0.232 0.282 89 301 89 0.228 83 41 12 12 9 Benign 4.252 45282 chr3 9990800 9990800 G C rs59465469 PRRT3 Nonsynonymous SNV R334G 0.256 0.232 0.289 89 301 89 0.228 85 41 12 12 9 0.045 45283 chr16 2070164 2070164 C T rs2286471 NPW Nonsynonymous SNV P88S 0.106 0.115 0.078 37 124 44 0.095 23 8 3 4 1 17.75 45284 chr3 9991101 9991101 C G rs55847233 PRRT3 Nonsynonymous SNV L233F 0.256 0.232 0.289 89 300 89 0.228 85 40 12 12 9 0.017 45285 chr3 49881339 49881339 C T rs145932323 TRAIP Synonymous SNV Q101Q 0.015 0.023 0.02 7 18 9 0.018 6 0 0 0 0 Benign 6.151 45286 chr4 17707449 17707449 C T rs61741460 FAM184B Nonsynonymous SNV G366S 0.095 0.065 0.078 44 112 25 0.113 23 3 0 2 2 0.539 45287 chr8 144942538 144942538 C T rs117131125 EPPK1 Synonymous SNV A1628A 0.053 0.042 0.044 11 62 16 0.028 13 1 1 0 0 12.57 45288 chr3 9991163 9991163 A G rs55847610 PRRT3 Nonsynonymous SNV S213P 0.256 0.232 0.289 89 300 89 0.228 85 40 12 12 9 0.002 45289 chr4 177098285 177098285 G A rs17625943 WDR17 Nonsynonymous SNV A1176T 0.269 0.281 0.31 136 316 108 0.349 91 36 17 11 19 22.9 45290 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAA 0.012 0.005 0 5 14 2 0.013 0 0 0 0 0 45291 chr16 2231468 2231468 G A rs374863564 CASKIN1 Nonsynonymous SNV P634L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.5 45292 chr4 177113836 177113836 C T rs6832177 SPATA4 Synonymous SNV A210A 0.345 0.372 0.367 160 405 143 0.41 108 61 31 15 30 10.81 45293 chr4 110222972 110222972 G A rs34727311 COL25A1 Synonymous SNV S68S 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 Benign 18 45294 chr4 123113428 123113428 A G rs74643640 KIAA1109 Nonsynonymous SNV S316G 0.035 0.026 0.044 12 41 10 0.031 13 0 0 0 0 17.8 45295 chr3 41952838 41952838 A G rs9877875 ULK4 Synonymous SNV G50G 0.038 0.039 0.027 17 45 15 0.044 8 1 0 0 0 7.19 45296 chr4 123268859 123268859 A G rs2306369 KIAA1109 Nonsynonymous SNV T4352A 0.04 0.031 0.048 14 47 12 0.036 14 0 0 0 0 14.83 45297 chr3 51749182 51749182 C T rs200690482 GRM2 Nonsynonymous SNV R87C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 45298 chr4 17886146 17886146 A G rs17526944 LCORL Nonsynonymous SNV Y336H 0.056 0.055 0.058 22 66 21 0.056 17 1 0 1 0 6.754 45299 chr4 110763724 110763724 C T rs199514197 RRH Nonsynonymous SNV P274S 0.004 0 0 0 5 0 0 0 0 0 0 0 7.839 45300 chr4 139104415 139104415 C T rs35701885 SLC7A11 Synonymous SNV P320P 0.055 0.057 0.065 20 65 22 0.051 19 4 0 0 1 17.52 45301 chr4 1823926 1823926 C T rs139223046 LETM1 Synonymous SNV P530P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.34 45302 chr4 183664522 183664522 T C rs7654255 TENM3 Synonymous SNV Y1193Y 0.206 0.19 0.214 81 242 73 0.208 63 33 5 7 8 Benign 0.031 45303 chr4 139144395 139144395 T C rs111500641 SLC7A11 Nonsynonymous SNV I202V 0.036 0.013 0.017 7 42 5 0.018 5 3 0 0 0 23.4 45304 chr3 51979120 51979120 C T rs4986825 PARP3 Synonymous SNV G254G 0.026 0.018 0.003 7 30 7 0.018 1 1 1 0 0 13.86 45305 chr4 183676206 183676206 C T rs763283270 TENM3 Synonymous SNV N1562N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.038 45306 chr3 51990605 51990605 G C rs323871 GPR62 Nonsynonymous SNV V313L 0.035 0.023 0.024 11 41 9 0.028 7 2 1 0 0 0.005 45307 chr3 53845295 53845295 C T rs10154841 CACNA1D Synonymous SNV N2092N 0.086 0.081 0.122 34 101 31 0.087 36 2 1 3 3 Benign 12.68 45308 chr3 51994587 51994587 T C rs323874 PCBP4 Synonymous SNV A70A 0.035 0.023 0.024 11 41 9 0.028 7 2 1 0 0 5.863 45309 chr4 1843420 1843420 A G rs761924755 LETM1 Nonsynonymous SNV V83A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.001 45310 chr3 52027854 52027859 CCTTGG - rs368982942 RPL29 A129_K130del 0.063 0.039 0.003 15 74 15 0.038 1 6 1 0 0 45311 chr4 184585165 184585165 G C rs141909783 TRAPPC11 Nonsynonymous SNV V49L 0.019 0.018 0.01 4 22 7 0.01 3 1 0 0 0 Benign 22 45312 chr4 141317068 141317068 G A rs12513290 CLGN Nonsynonymous SNV R352W 0.146 0.112 0.095 46 171 43 0.118 28 10 1 0 3 29.2 45313 chr3 52263967 52263967 G A rs34038856 TWF2 Synonymous SNV H243H 0.057 0.063 0.068 26 67 24 0.067 20 2 1 0 1 6.939 45314 chr4 100787233 100787233 C A rs77036069 DAPP1 Synonymous SNV T243T 0.032 0.049 0.034 17 37 19 0.044 10 0 0 0 1 19.92 45315 chr4 141483419 141483419 C T UCP1 Nonsynonymous SNV G246E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 45316 chr4 184618936 184618936 G C rs62617790 TRAPPC11 Nonsynonymous SNV Q933H 0.168 0.169 0.184 57 197 65 0.146 54 15 6 2 6 Benign 23.4 45317 chr16 3304626 3304626 C G rs3743930 MEFV Nonsynonymous SNV E148Q 0.02 0.029 0.054 7 24 11 0.018 16 0 1 2 0 Conflicting interpretations of pathogenicity 23.3 45318 chr4 185310218 185310218 C T rs1131553 IRF2 Synonymous SNV G248G 0.379 0.357 0.391 158 445 137 0.405 115 77 25 21 35 8.643 45319 chr8 145086777 145086777 C T rs192803282 SPATC1 Nonsynonymous SNV R32W 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 26 45320 chr3 56601044 56601044 G A rs71309963 CCDC66 Synonymous SNV S226S 0.054 0.039 0.034 21 63 15 0.054 10 1 0 0 1 10.46 45321 chr3 4355434 4355434 T C rs144700571 SETMAR Synonymous SNV L337L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.112 45322 chr8 145150101 145150101 T G rs11541475 CYC1 Synonymous SNV R33R 0.444 0.43 0.381 175 521 165 0.449 112 247 81 55 85 Benign 6.419 45323 chr3 56649282 56649282 C T rs6807338 CCDC66 Synonymous SNV L532L 0.054 0.039 0.037 21 63 15 0.054 11 1 0 0 1 14.05 45324 chr3 52548818 52548818 C T rs740903 STAB1 Synonymous SNV C1260C 0.121 0.089 0.082 36 142 34 0.092 24 5 1 0 2 13.5 45325 chr3 56650012 56650012 G A rs4681904 CCDC66 Nonsynonymous SNV E559K 0.054 0.039 0.031 21 63 15 0.054 9 1 0 0 1 13.06 45326 chr4 146083832 146083832 C T rs146306989 OTUD4 Synonymous SNV V87V 0.005 0.013 0.017 4 6 5 0.01 5 0 0 0 0 14.72 45327 chr4 186379735 186379735 T C rs6827370 CCDC110 Nonsynonymous SNV Q632R 0.067 0.076 0.109 30 79 29 0.077 32 3 2 0 0 0.705 45328 chr3 56657197 56657197 T C rs3732506 TASOR Synonymous SNV S1190S 0.054 0.039 0.034 21 63 15 0.054 10 1 0 0 1 13.65 45329 chr16 3594296 3594296 C T rs35402060 NLRC3 Synonymous SNV A935A 0.036 0.026 0.02 14 42 10 0.036 6 0 0 0 0 13.63 45330 chr3 52637631 52637631 T C rs34341044 PBRM1 Synonymous SNV T895T 0.02 0.021 0.007 6 24 8 0.015 2 0 0 0 0 3.116 45331 chr3 52833881 52833881 C T rs35271262 ITIH3 Nonsynonymous SNV T340M 0.031 0.026 0.02 9 36 10 0.023 6 0 0 0 0 25.6 45332 chr4 186544435 186544435 C T rs28528960 SORBS2 Synonymous SNV S616S 0.08 0.083 0.078 30 94 32 0.077 23 2 0 3 1 3.602 45333 chr16 3613207 3613207 G T rs9940099 NLRC3 Synonymous SNV T577T 0.036 0.026 0.024 14 42 10 0.036 7 0 0 0 0 0.023 45334 chr4 104044197 104044197 G C rs61751592 CENPE Nonsynonymous SNV S2204C 0.014 0.018 0.01 4 16 7 0.01 3 0 0 0 0 Benign/Likely benign 9.761 45335 chr4 1332396 1332396 C T rs557215029 MAEA Synonymous SNV Y294Y 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 12.5 45336 chr16 3613904 3613904 C G rs117213971 NLRC3 Nonsynonymous SNV S345T 0.036 0.026 0.024 14 42 10 0.036 7 0 0 0 0 0.001 45337 chr3 44488293 44488293 T C rs143141433 ZNF445 Nonsynonymous SNV E945G 0.016 0.026 0.01 16 19 10 0.041 3 1 0 0 1 12.57 45338 chr16 3613928 3613928 A G rs45483498 NLRC3 Nonsynonymous SNV M337T 0.046 0.034 0.031 18 54 13 0.046 9 1 0 0 0 0.001 45339 chr4 148944467 148944467 A G rs35975487 ARHGAP10 Synonymous SNV A590A 0.066 0.063 0.065 29 77 24 0.074 19 2 1 2 1 9.024 45340 chr4 13601337 13601337 G A rs3733557 BOD1L1 Nonsynonymous SNV P2396L 0.162 0.161 0.143 72 190 62 0.185 42 16 3 1 7 0.205 45341 chr8 145170694 145170694 C T rs748713943 WDR97 Nonsynonymous SNV H1510Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 45342 chr4 115544713 115544713 C T rs4148254 UGT8 Nonsynonymous SNV P226L 0.068 0.057 0.068 15 80 22 0.038 20 3 0 2 0 29 45343 chr16 3639977 3639977 G A rs3827530 SLX4 Nonsynonymous SNV A1221V 0.036 0.029 0.027 14 42 11 0.036 8 0 0 0 0 Benign 4.867 45344 chr16 87678324 87678324 C T rs61737926 JPH3 Synonymous SNV D281D 0.012 0.01 0.02 7 14 4 0.018 6 0 0 0 0 Benign 13 45345 chr16 3640784 3640784 G A rs78637028 SLX4 Nonsynonymous SNV A952V 0.036 0.029 0.027 14 42 11 0.036 8 0 0 0 0 Benign 21.4 45346 chr16 3640785 3640785 C T rs59939128 SLX4 Nonsynonymous SNV A952T 0.037 0.029 0.027 14 43 11 0.036 8 0 0 0 0 Benign 10.2 45347 chr16 3645607 3645607 A G rs77985244 SLX4 Nonsynonymous SNV L671S 0.037 0.029 0.027 14 43 11 0.036 8 0 0 0 0 Benign 0.006 45348 chr4 139965977 139965977 G A rs138904656 NOCT Synonymous SNV T215T 0.009 0.018 0.027 15 11 7 0.038 8 0 0 1 0 8.803 45349 chr16 3647692 3647692 A C rs74319927 SLX4 Nonsynonymous SNV N457K 0.036 0.029 0.027 14 42 11 0.036 8 0 0 0 0 Benign/Likely benign 12.02 45350 chr4 1400172 1400172 T C rs72613115 NKX1-1 Nonsynonymous SNV Q20R 0.29 0.242 0.398 121 341 93 0.31 117 152 43 44 54 Benign 0.565 45351 chr16 3650987 3650987 T C rs113490934 SLX4 Nonsynonymous SNV M386V 0.036 0.029 0.027 14 42 11 0.036 8 0 0 0 0 Benign 0.001 45352 chr3 58124019 58124019 C T rs147426569 FLNB Synonymous SNV I1624I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 18.01 45353 chr3 44945411 44945411 G C TGM4 Nonsynonymous SNV R336P 0.006 0.008 0 9 7 3 0.023 0 1 0 0 0 23.7 45354 chr16 3650991 3650991 T C rs112511042 SLX4 Synonymous SNV P384P 0.036 0.029 0.027 14 42 11 0.036 8 0 0 0 0 Benign 0.06 45355 chr4 108535435 108535435 T C rs143114926 PAPSS1 Synonymous SNV T615T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.764 45356 chr4 140450309 140450309 A G rs34007623 SETD7 Synonymous SNV Y146Y 0.037 0.047 0.027 14 44 18 0.036 8 0 0 0 0 0.236 45357 chr4 187518041 187518041 T C rs72716244 FAT1 Nonsynonymous SNV D4218G 0.013 0.023 0.02 6 15 9 0.015 6 0 0 0 0 23.3 45358 chr4 119736626 119736626 G C rs35392900 SEC24D Nonsynonymous SNV A218G 0.033 0.039 0.041 16 39 15 0.041 12 0 0 0 0 Benign 12.05 45359 chr3 56649256 56649256 C T rs61743979 CCDC66 Nonsynonymous SNV A523V 0.045 0.031 0.027 7 53 12 0.018 8 2 0 1 0 23.5 45360 chr16 3656625 3656625 G A rs79842542 SLX4 Nonsynonymous SNV R204C 0.036 0.029 0.027 14 42 11 0.036 8 0 0 0 0 Benign 24.9 45361 chr4 152567893 152567893 C T rs192710881 FAM160A1 Synonymous SNV D470D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.293 45362 chr16 3656680 3656680 G A rs74640850 SLX4 Synonymous SNV D185D 0.035 0.029 0.027 14 41 11 0.036 8 0 0 0 0 Benign 0.225 45363 chr16 3707091 3707091 C G rs8176938 DNASE1 Synonymous SNV V176V 0.023 0.023 0.024 12 27 9 0.031 7 0 0 0 0 8.068 45364 chr4 187531022 187531022 A G rs28647489 FAT1 Nonsynonymous SNV V3334A 0.161 0.177 0.105 54 189 68 0.138 31 13 5 1 3 4.138 45365 chr4 141294756 141294756 C G rs358304 SCOC Nonsynonymous SNV F22L 0.068 0.089 0.058 40 80 34 0.103 17 3 2 1 1 0.345 45366 chr3 56657257 56657257 C T rs10510787 TASOR Synonymous SNV Q1170Q 0.045 0.031 0.027 7 53 12 0.018 8 2 0 1 0 15.03 45367 chr16 3708170 3708170 C T rs2791 TRAP1 Nonsynonymous SNV R639H 0.021 0.023 0.02 12 25 9 0.031 6 0 0 0 0 Likely benign 22.6 45368 chr4 141320021 141320021 C T rs2175563 CLGN Nonsynonymous SNV V290I 0.071 0.094 0.068 41 83 36 0.105 20 4 2 1 2 22.7 45369 chr4 120072187 120072187 A G rs17851524 MYOZ2 Synonymous SNV A79A 0.019 0.031 0.044 8 22 12 0.021 13 1 0 0 0 Benign 7.186 45370 chr16 3724352 3724352 G A rs11541712 TRAP1 Synonymous SNV Y291Y 0.029 0.031 0.02 15 34 12 0.038 6 0 0 0 0 Benign 0.655 45371 chr4 120169906 120169906 A T rs113583516 USP53 Nonsynonymous SNV I81L 0.02 0.036 0.041 8 23 14 0.021 12 1 0 0 0 Benign 22.8 45372 chr3 56675504 56675504 G C rs17056999 TASOR Nonsynonymous SNV A435G 0.045 0.031 0.031 7 53 12 0.018 9 2 0 1 0 10.07 45373 chr3 62578414 62578414 G A rs139420058 CADPS Synonymous SNV T445T 0.007 0 0 1 8 0 0.003 0 0 0 0 0 12 45374 chr4 141464711 141464711 C A rs200049901 ELMOD2 Nonsynonymous SNV P236Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 32 45375 chr8 145752900 145752900 C T rs11557085 C8orf82 Synonymous SNV P159P 0.323 0.307 0.293 142 379 118 0.364 86 121 41 23 43 11.69 45376 chr16 3726074 3726074 G C rs61753377 TRAP1 Synonymous SNV S206S 0.031 0.031 0.024 15 36 12 0.038 7 0 0 0 0 12.56 45377 chr16 3726075 3726075 G A rs61753378 TRAP1 Nonsynonymous SNV S206F 0.031 0.031 0.024 15 36 12 0.038 7 0 0 0 0 25.7 45378 chr4 187542755 187542755 T C rs28489116 FAT1 Nonsynonymous SNV N1662S 0.158 0.182 0.105 51 185 70 0.131 31 12 5 1 3 22 45379 chr4 109769942 109769942 T C rs112032233 COL25A1 Synonymous SNV P442P 0.02 0.021 0.014 8 23 8 0.021 4 1 0 0 1 6.623 45380 chr16 3778427 3778427 T C rs55960450 CREBBP Synonymous SNV Q2169Q 0.023 0.016 0.01 4 27 6 0.01 3 0 0 0 0 Benign 0.001 45381 chr4 141607507 141607507 T C rs748497750 TBC1D9 Synonymous SNV G117G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.892 45382 chr8 146036234 146036234 A G rs2958511 LOC100130027 0 0 0.976 0 0 0 0 287 0 0 142 0 2.691 45383 chr16 88520070 88520070 C T rs113752529 ZFPM1 Synonymous SNV N8N 0.048 0.036 0.014 12 56 14 0.031 4 3 0 0 0 6.051 45384 chr16 3779060 3779060 G A rs181646656 CREBBP Synonymous SNV A1958A 0.023 0.016 0.01 4 27 6 0.01 3 0 0 0 0 Benign 0.423 45385 chr4 109861764 109861764 G T rs140998459 COL25A1 Synonymous SNV G197G 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 Benign 8.705 45386 chr3 65342433 65342433 A C rs140619230 MAGI1 Nonsynonymous SNV L1337V 0.016 0.003 0 4 19 1 0.01 0 0 0 0 0 7.577 45387 chr16 3831230 3831230 G T rs61753381 CREBBP Nonsynonymous SNV L513I 0.024 0.016 0.01 5 28 6 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 45388 chr16 88594582 88594582 C T rs138985256 ZFPM1 Synonymous SNV H216H 0 0 0 0 0 0 0 0 0 0 0 0 11.04 45389 chr16 3860640 3860640 A G rs3025702 CREBBP Synonymous SNV D313D 0.026 0.016 0.02 5 30 6 0.013 6 0 0 0 0 Benign 5.218 45390 chr4 147560458 147560478 GGCGGCGGCGGCGGCGGCGGC - POU4F2 G62_G68del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 45391 chr4 147788728 147788728 G A rs35231662 TTC29 Synonymous SNV D269D 0.053 0.049 0.068 22 62 19 0.056 20 2 0 0 0 0.078 45392 chr3 45801393 45801393 T C rs61731475 SLC6A20 Nonsynonymous SNV I492V 0.014 0.029 0.003 7 16 11 0.018 1 0 0 0 0 Likely benign 10.22 45393 chr16 88705611 88705611 G A rs372442876 IL17C Nonsynonymous SNV G77R 0 0 0 0 0 0 0 0 0 0 0 0 0.002 45394 chr4 15513005 15513007 GAA - rs386833764 CC2D2A E229del 0.049 0.06 0.048 13 58 23 0.033 14 1 3 0 0 45395 chr8 1626467 1626467 G A rs149482724 DLGAP2 Synonymous SNV T792T 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 12.91 45396 chr4 122593768 122593768 G A ANXA5 Nonsynonymous SNV A182V 0.003 0 0 0 4 0 0 0 0 0 0 0 33 45397 chr8 16859440 16859440 C T rs17514894 FGF20 Synonymous SNV P34P 0.153 0.159 0.173 70 180 61 0.179 51 14 6 3 7 18.87 45398 chr8 17142065 17142065 C T rs2285269 VPS37A Synonymous SNV D326D 0.18 0.177 0.139 69 211 68 0.177 41 17 9 1 5 Benign 11.18 45399 chr16 4431360 4431360 G A rs35713275 VASN Nonsynonymous SNV R161Q 0.043 0.039 0.085 21 50 15 0.054 25 2 0 1 0 0.81 45400 chr4 189012809 189012809 C T rs2279551 TRIML2 Synonymous SNV S369S 0.092 0.13 0.095 32 108 50 0.082 28 5 1 2 3 13.3 45401 chr4 189022324 189022324 C T rs79698746 TRIML2 Synonymous SNV Q122Q 0.093 0.13 0.099 31 109 50 0.079 29 5 1 2 3 7.583 45402 chr16 4431880 4431880 C T rs13333950 VASN Synonymous SNV N334N 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 1.392 45403 chr3 58253018 58253018 C A ABHD6 Synonymous SNV I74I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 45404 chr8 17415862 17415862 A C rs74514270 SLC7A2 Synonymous SNV T418T 0.047 0.036 0.065 21 55 14 0.054 19 0 0 0 1 0.002 45405 chr4 113066831 113066831 G A rs10002700 FAM241A Nonsynonymous SNV G32E 0.25 0.234 0.415 88 294 90 0.226 122 147 45 60 44 0.018 45406 chr8 17612639 17612639 T C rs209568 MTUS1 Synonymous SNV E226E 0.227 0.208 0.214 67 267 80 0.172 63 33 9 6 5 0.016 45407 chr8 17612698 17612698 T C rs61733698 MTUS1 Nonsynonymous SNV T207A 0.037 0.039 0.02 12 44 15 0.031 6 1 1 0 1 0.111 45408 chr8 17612872 17612872 C T rs61733701 MTUS1 Nonsynonymous SNV A149T 0.037 0.039 0.02 12 44 15 0.031 6 1 1 0 1 0.006 45409 chr4 151719263 151719263 A G rs1129998 LRBA Synonymous SNV V1850V 0.193 0.182 0.19 85 226 70 0.218 56 30 6 3 14 Benign 9.079 45410 chr3 58512302 58512302 C T rs969411345 ACOX2 Nonsynonymous SNV G413S 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 33 45411 chr16 4625931 4625931 C T rs185475621 C16orf96 Nonsynonymous SNV R484C 0.011 0.018 0.014 3 13 7 0.008 4 0 0 0 0 Benign 24.6 45412 chr4 2306307 2306307 G A rs372565755 ZFYVE28 Nonsynonymous SNV P557L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 45413 chr4 113353409 113353409 C T rs76049625 ALPK1 Synonymous SNV S824S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.44 45414 chr4 23815681 23815681 G A rs17574213 PPARGC1A Synonymous SNV D348D 0.043 0.049 0.02 14 51 19 0.036 6 1 1 0 0 2.695 45415 chr4 153253825 153253825 T C FBXW7 Nonsynonymous SNV Q185R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.572 45416 chr4 2444931 2444931 A G rs1203814 CFAP99 Synonymous SNV P142P 0.229 0.208 0.214 91 269 80 0.233 63 28 8 8 12 12.09 45417 chr4 2447028 2447028 C G rs576917731 CFAP99 Nonsynonymous SNV P212R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 8.186 45418 chr8 17817553 17817553 G T rs17635381 PCM1 Nonsynonymous SNV A691S 0.134 0.169 0.112 54 157 65 0.138 33 12 9 1 7 22.2 45419 chr4 2460519 2460519 G C rs112712721 CFAP99 Nonsynonymous SNV E411Q 0.019 0.023 0 10 22 9 0.026 0 0 0 0 0 20.4 45420 chr8 17820714 17820714 A T rs6991775 PCM1 Synonymous SNV L856L 0.141 0.177 0.119 54 166 68 0.138 35 11 9 1 7 0.598 45421 chr4 2464179 2464179 A G rs3135150 CFAP99 Synonymous SNV E557E 0.097 0.091 0.048 68 114 35 0.174 14 55 17 7 34 0.056 45422 chr4 154217089 154217089 G A rs147042335 TRIM2 Nonsynonymous SNV G444S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 12.79 45423 chr3 46904812 46904812 G A rs2233264 MYL3 Synonymous SNV P23P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 8.321 45424 chr8 1817367 1817367 G A rs7003969 ARHGEF10 Synonymous SNV E211E 0.171 0.174 0.133 56 201 67 0.144 39 16 6 2 3 Benign 6.271 45425 chr8 18257854 18257854 T C rs1801280 NAT2 Nonsynonymous SNV I114T 0.383 0.417 0.405 160 450 160 0.41 119 85 33 24 26 drug response 21.6 45426 chr4 154387597 154387597 G C rs71620317 TMEM131L Synonymous SNV A16A 0.292 0.307 0.313 140 343 118 0.359 92 86 26 24 36 7.648 45427 chr3 88040721 88040721 T C rs201728270 HTR1F Synonymous SNV H274H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.009 45428 chr8 18257994 18257994 C T rs1799929 NAT2 Synonymous SNV L161L 0.372 0.396 0.384 156 437 152 0.4 113 80 30 22 25 8.503 45429 chr8 1833801 1833801 G C rs9657362 ARHGEF10 Nonsynonymous SNV L332F 0.126 0.128 0.177 48 148 49 0.123 52 8 5 2 2 Benign 8.274 45430 chr3 47040018 47040018 G A rs775313250 NBEAL2 Nonsynonymous SNV V1028I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.8 45431 chr8 1876631 1876631 C T rs2272611 ARHGEF10 Synonymous SNV I874I 0.097 0.107 0.119 36 114 41 0.092 35 7 2 1 1 17.44 45432 chr8 19190491 19190491 A G rs1574288 SH2D4A Synonymous SNV K24K 0.262 0.253 0.272 122 308 97 0.313 80 44 7 15 21 0.273 45433 chr4 126372742 126372742 G A rs1567047 FAT4 Nonsynonymous SNV G3526D 0.301 0.276 0.282 131 353 106 0.336 83 61 14 12 23 Benign 27.6 45434 chr4 156858579 156858579 C T rs139753097 CTSO Synonymous SNV L203L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.18 45435 chr16 89017471 89017471 A G rs200007421 LOC100129697 Synonymous SNV G315G 0.087 0.099 0.071 48 102 38 0.123 21 0 0 0 0 0.133 45436 chr3 4741563 4741563 G A rs200646875 ITPR1 Nonsynonymous SNV V1477I 0.008 0.021 0 3 9 8 0.008 0 0 0 0 0 Likely benign 23.1 45437 chr8 1998978 1998978 C A rs35578989 MYOM2 Nonsynonymous SNV A33E 0.024 0.018 0.024 8 28 7 0.021 7 0 0 0 0 23 45438 chr4 2906707 2906707 G T rs4961 ADD1 Nonsynonymous SNV G460W 0.156 0.161 0.099 54 183 62 0.138 29 14 4 0 2 drug response 28.4 45439 chr8 20110641 20110641 C T rs2645386 LZTS1 Synonymous SNV E267E 0.362 0.336 0.265 122 425 129 0.313 78 77 17 13 17 11.58 45440 chr4 2916762 2916762 C G rs4963 ADD1 Nonsynonymous SNV S586C 0.149 0.156 0.105 51 175 60 0.131 31 14 4 0 1 23 45441 chr8 2040298 2040298 C T rs2235122 MYOM2 Synonymous SNV A651A 0.148 0.138 0.16 53 174 53 0.136 47 9 2 5 2 15.2 45442 chr3 47888470 47888475 GCACCG - rs772302527 DHX30 R640_H641del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 45443 chr3 9517577 9517577 C T rs17747739 SETD5 Synonymous SNV N1377N 0.066 0.073 0.044 26 77 28 0.067 13 3 1 0 2 6.834 45444 chr3 87299075 87299075 A C rs1044499 CHMP2B Synonymous SNV T83T 0.083 0.104 0.126 41 97 40 0.105 37 2 2 4 3 Benign 0.611 45445 chr16 8890322 8890322 G A rs74689268 TMEM186 Synonymous SNV I43I 0.016 0.01 0.003 4 19 4 0.01 1 1 0 0 0 6.978 45446 chr4 122250654 122250654 G A rs79300690 QRFPR Nonsynonymous SNV R371W 0.043 0.049 0.027 25 50 19 0.064 8 1 0 0 1 25.9 45447 chr4 3076604 3076606 CAG - rs71180116 HTT Q38del 0.07 0.07 0.017 31 82 27 0.079 5 9 3 1 5 45448 chr4 1343384 1343384 C T rs143918768 UVSSA Synonymous SNV I57I 0.014 0.01 0 4 17 4 0.01 0 0 0 0 0 13.6 45449 chr4 3076654 3076654 G A rs779821751 HTT Synonymous SNV Q34Q 0.007 0.013 0 3 8 5 0.008 0 0 1 0 0 0.202 45450 chr4 164394011 164394011 C T rs17043707 TKTL2 Synonymous SNV S292S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 11.03 45451 chr4 3076659 3076659 A C rs746852037 HTT Nonsynonymous SNV Q36P 0.053 0.049 0.01 14 62 19 0.036 3 8 4 1 1 0.005 45452 chr8 22020220 22020220 A G rs201567623 SFTPC Nonsynonymous SNV H59R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 24.4 45453 chr4 3076662 3076662 A C rs61792465 HTT Nonsynonymous SNV Q37P 0.053 0.049 0.01 14 62 19 0.036 3 8 4 1 1 0.004 45454 chr8 22021517 22021517 G A rs1124 SFTPC Nonsynonymous SNV S133N 0.376 0.333 0.357 149 442 128 0.382 105 79 14 21 27 Benign 11.66 45455 chr4 3076665 3076665 A C rs61792466 HTT Nonsynonymous SNV Q38P 0.053 0.049 0.01 14 62 19 0.036 3 8 4 1 1 0.001 45456 chr8 22059363 22059363 G A rs11996036 BMP1 Nonsynonymous SNV V719I 0.054 0.049 0.058 26 63 19 0.067 17 1 1 1 0 Benign/Likely benign 13.95 45457 chr16 89623393 89623393 G A rs11559075 SPG7 Synonymous SNV P760P 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign/Likely benign 8.22 45458 chr4 3117168 3117168 C G rs1936032 HTT Synonymous SNV L295L 0.05 0.036 0.037 23 59 14 0.059 11 3 1 1 2 13.54 45459 chr4 3162056 3162056 C T rs363099 HTT Synonymous SNV L1267L 0.198 0.232 0.187 65 233 89 0.167 55 18 12 5 3 3.034 45460 chr4 3189547 3189547 C A rs363125 HTT Nonsynonymous SNV T1720N 0.131 0.128 0.143 60 154 49 0.154 42 6 5 5 5 0.003 45461 chr16 89662990 89662990 T C rs694285 CPNE7 Synonymous SNV G546G 0.16 0.154 0.146 61 188 59 0.156 43 14 7 3 4 0.017 45462 chr4 3213832 3213832 G A rs362336 HTT Synonymous SNV E2197E 0.187 0.227 0.197 64 220 87 0.164 58 18 12 6 3 2.115 45463 chr4 13605304 13605304 G A rs73231582 BOD1L1 Nonsynonymous SNV R1074W 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 28.6 45464 chr4 3215835 3215835 T C rs362331 HTT Nonsynonymous SNV Y2309H 0.359 0.393 0.367 133 421 151 0.341 108 67 34 21 17 15.23 45465 chr16 89703663 89703663 G A rs766090942 DPEP1 Nonsynonymous SNV V215M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.1 45466 chr16 89753128 89753128 C G rs187319559 CDK10 Nonsynonymous SNV P4A 0.014 0.029 0.01 9 16 11 0.023 3 0 1 0 0 0.002 45467 chr4 123664445 123664445 C T rs2292493 BBS12 Synonymous SNV G466G 0.158 0.138 0.143 66 185 53 0.169 42 13 2 3 7 Benign 11.82 45468 chr4 169279364 169279364 C T rs11736382 DDX60L Synonymous SNV L1685L 0.066 0.073 0.088 33 78 28 0.085 26 1 2 1 2 11.28 45469 chr4 3227419 3227419 A G rs362273 HTT Synonymous SNV L2599L 0.204 0.245 0.194 64 240 94 0.164 57 20 12 5 3 9.156 45470 chr16 89753130 89753130 A T rs192221267 CDK10 Synonymous SNV P4P 0.014 0.029 0.01 9 16 11 0.023 3 0 1 0 0 0.012 45471 chr4 3234980 3234980 G A rs362272 HTT Nonsynonymous SNV V2786I 0.196 0.232 0.19 66 230 89 0.169 56 18 12 5 3 4.423 45472 chr4 123949389 123949389 G C rs35343500 SPATA5 Nonsynonymous SNV E639Q 0.048 0.029 0.041 11 56 11 0.028 12 2 0 1 0 Benign 11.62 45473 chr8 22442661 22442661 A G rs2294047 PDLIM2 Synonymous SNV A149A 0.568 0.591 0.554 209 667 227 0.536 163 192 65 44 56 1.259 45474 chr8 22462374 22462374 T C rs3735901 LOC107986876 0.075 0.049 0.143 31 88 19 0.079 42 35 7 12 10 1.215 45475 chr4 3257593 3257593 C T rs362287 MSANTD1 Synonymous SNV R246R 0.229 0.292 0.228 71 269 112 0.182 67 30 19 8 5 14.15 45476 chr4 169325233 169325233 T A rs17540213 DDX60L Nonsynonymous SNV S1080C 0.067 0.07 0.068 38 79 27 0.097 20 3 0 0 2 14.18 45477 chr4 15688604 15688604 G C rs2302469 FAM200B Nonsynonymous SNV D2H 0.089 0.091 0.054 31 104 35 0.079 16 5 2 2 2 23.9 45478 chr4 169327191 169327191 C T rs3762856 DDX60L Synonymous SNV K1041K 0.3 0.333 0.255 120 352 128 0.308 75 54 22 11 21 10.99 45479 chr8 22570901 22570901 C T rs3087803 PEBP4 Synonymous SNV A222A 0.102 0.086 0.102 33 120 33 0.085 30 6 3 2 2 12.05 45480 chr3 49395677 49395679 GCC - GPX1 A13del 0.106 0.117 0 39 124 45 0.1 0 0 0 0 0 45481 chr8 22570908 22570908 T - rs35121552 PEBP4 N220Tfs*5 0.319 0.318 0.33 111 375 122 0.285 97 56 24 19 15 45482 chr3 97677897 97677897 T G rs55907650 RIOX2 Nonsynonymous SNV K227Q 0.036 0.034 0.01 9 42 13 0.023 3 0 0 0 0 24 45483 chr8 22570935 22570935 T C rs1047406 PEBP4 Nonsynonymous SNV E211G 0.32 0.318 0.333 111 376 122 0.285 98 56 24 19 15 0.017 45484 chr4 15709192 15709192 G A rs2302465 BST1 Nonsynonymous SNV R125H 0.088 0.091 0.075 31 103 35 0.079 22 4 2 2 2 24.6 45485 chr8 22571018 22571018 A G rs1047398 PEBP4 Synonymous SNV R183R 0.321 0.318 0.333 111 377 122 0.285 98 56 24 19 15 0.672 45486 chr8 22582429 22582429 A G rs10107033 PEBP4 Synonymous SNV H148H 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 1.193 45487 chr4 169348435 169348435 T C rs2712120 DDX60L Synonymous SNV K572K 0.151 0.138 0.112 56 177 53 0.144 33 16 4 4 8 0.004 45488 chr4 36152584 36152584 G T rs13148785 ARAP2 Synonymous SNV T945T 0.185 0.159 0.17 86 217 61 0.221 50 14 2 2 8 8.521 45489 chr4 158142820 158142820 G T rs79163474 GRIA2 Synonymous SNV G30G 0.02 0.013 0.02 2 24 5 0.005 6 0 0 0 0 Benign 13.19 45490 chr4 36310049 36310049 C T rs12507599 DTHD1 Nonsynonymous SNV R387C 0.248 0.214 0.248 86 291 82 0.221 73 38 9 13 9 20.9 45491 chr8 22960711 22960711 G T rs144215650 LOC254896 0.014 0.023 0.054 2 16 9 0.005 16 0 0 1 0 9.15 45492 chr17 182990 182990 A C rs1129995 LOC100506388 0.123 0.156 0.061 89 144 60 0.228 18 60 26 7 37 0.159 45493 chr8 23021346 23021346 G A rs11135703 TNFRSF10D Nonsynonymous SNV P35S 0.072 0.076 0.082 34 84 29 0.087 24 3 3 0 2 15.56 45494 chr4 126412891 126412891 C T rs1014867 FAT4 Nonsynonymous SNV P4973S 0.037 0.044 0.031 19 44 17 0.049 9 0 1 0 1 Benign 4.834 45495 chr17 260415 260415 C T rs781783260 C17orf97 Synonymous SNV T94T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 45496 chr17 422447 422447 A G rs771439682 VPS53 Nonsynonymous SNV L807P 0 0 0 0 0 0 0 0 0 0 0 0 13.04 45497 chr4 367267 367267 T C rs201021508 ZNF141 Synonymous SNV A271A 0.267 0.237 0.221 94 314 91 0.241 65 0 0 0 0 0.096 45498 chr4 159631991 159631991 G T rs9410 PPID Nonsynonymous SNV L302I 0.271 0.26 0.259 98 318 100 0.251 76 44 11 10 12 17.39 45499 chr3 49842064 49842064 G A rs138461983 INKA1 Nonsynonymous SNV E141K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 45500 chr4 37904082 37904082 T C rs2279026 TBC1D1 Synonymous SNV A122A 0.194 0.177 0.18 83 228 68 0.213 53 16 3 4 11 0.149 45501 chr3 9912149 9912149 G T rs140125102 CIDEC Nonsynonymous SNV P73T 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 0.002 45502 chr3 49847737 49847737 C T rs34296708 UBA7 Nonsynonymous SNV R531H 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 17.16 45503 chr4 170482883 170482883 A G rs56064008 NEK1 Synonymous SNV I382I 0.077 0.083 0.051 25 90 32 0.064 15 4 3 0 0 Benign 9.506 45504 chr4 37962609 37962610 AT - rs200376306 PTTG2 H185Lfs*16 0.031 0.034 0.044 8 36 13 0.021 13 1 0 1 0 45505 chr17 649571 649571 T C rs111822058 GEMIN4 Nonsynonymous SNV N571S 0.014 0.01 0.01 7 17 4 0.018 3 0 0 0 0 Likely benign 11.58 45506 chr4 159894391 159894391 G A rs17037864 C4orf45 Nonsynonymous SNV A46V 0.078 0.099 0.082 38 91 38 0.097 24 4 1 1 1 0.296 45507 chr8 23185977 23185977 G A rs143228403 LOXL2 Synonymous SNV D356D 0.018 0.013 0.007 6 21 5 0.015 2 0 0 0 0 10.76 45508 chr4 38023302 38023302 C G rs34119528 TBC1D1 Synonymous SNV P391P 0.15 0.161 0.173 55 176 62 0.141 51 12 4 7 4 9.479 45509 chr4 160260279 160260279 A C rs758554222 RAPGEF2 Nonsynonymous SNV Q608H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.5 45510 chr17 959286 959286 T C rs34169260 ABR Nonsynonymous SNV K299R 0.07 0.073 0.078 17 82 28 0.044 23 1 3 2 0 21.2 45511 chr16 14311035 14311035 T C rs226788 MRTFB Synonymous SNV A124A 0.08 0.091 0.105 32 94 35 0.082 31 1 2 2 0 5.291 45512 chr8 23225559 23225559 G A rs1063577 LOXL2 Synonymous SNV Y102Y 0.207 0.19 0.16 66 243 73 0.169 47 28 7 4 9 11.07 45513 chr3 49939853 49939853 C G MST1R Nonsynonymous SNV G397A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 45514 chr3 99509662 99509662 C T COL8A1 Nonsynonymous SNV P46S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 21.2 45515 chr3 49940806 49940806 A C MST1R Nonsynonymous SNV H79Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.01 45516 chr4 164394698 164394701 GTCT - rs551489665 TKTL2 D63Qfs*36 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 45517 chr4 13601756 13601756 G A BOD1L1 Synonymous SNV I2256I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 45518 chr16 16271369 16271369 T G rs201884545 ABCC6 Nonsynonymous SNV K844Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 16.48 45519 chr4 176923545 176923545 G C rs1038207291 GPM6A Nonsynonymous SNV A66G 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 11.41 45520 chr4 152609826 152609826 A C rs62327344 GATB Synonymous SNV T429T 0.021 0.026 0.044 12 25 10 0.031 13 1 0 0 0 0.024 45521 chr4 39104990 39104990 G A rs34646863 KLHL5 Nonsynonymous SNV G447S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 34 45522 chr8 25222165 25222165 A G rs2271111 DOCK5 Nonsynonymous SNV Q1023R 0.346 0.362 0.371 130 406 139 0.333 109 73 25 25 18 15.73 45523 chr4 169158471 169158471 T G rs6552559 DDX60 Synonymous SNV G1459G 0.028 0.016 0.048 13 33 6 0.033 14 1 0 2 0 6.462 45524 chr4 39207318 39207318 A G rs17584431 WDR19 Synonymous SNV S124S 0.168 0.167 0.17 54 197 64 0.138 50 23 5 7 3 Benign 5.31 45525 chr4 169158489 169158489 G C rs3828560 DDX60 Synonymous SNV V1453V 0.026 0.016 0.037 11 30 6 0.028 11 1 0 0 0 8.216 45526 chr4 177095773 177095773 G A rs72706355 WDR17 Nonsynonymous SNV R1118Q 0.052 0.057 0.044 15 61 22 0.038 13 0 1 1 0 35 45527 chr4 169158531 169158531 T C rs3805396 DDX60 Synonymous SNV V1439V 0.025 0.016 0.037 11 29 6 0.028 11 1 0 0 0 7.915 45528 chr4 169188780 169188780 T C rs576619 DDX60 Nonsynonymous SNV I998V 0.035 0.039 0.065 15 41 15 0.038 19 0 1 0 0 0.001 45529 chr3 51969218 51969218 G A rs41291742 RRP9 Synonymous SNV D343D 0.03 0.013 0.014 6 35 5 0.015 4 1 0 0 0 3.426 45530 chr8 25364331 25364331 G A rs4872318 CDCA2 Nonsynonymous SNV V702I 0.365 0.354 0.364 134 428 136 0.344 107 80 24 17 26 21.4 45531 chr8 25708267 25708267 T C rs10866845 EBF2 Synonymous SNV S513S 0.534 0.544 0.551 206 627 209 0.528 162 171 60 44 53 0.001 45532 chr4 154525458 154525458 C T rs1063151 TMEM131L Synonymous SNV A1098A 0.132 0.115 0.112 55 155 44 0.141 33 10 2 2 4 12.79 45533 chr4 17711210 17711210 G A rs61746445 FAM184B Nonsynonymous SNV R67W 0.025 0.034 0.01 21 29 13 0.054 3 0 0 0 0 25.1 45534 chr4 102816467 102816467 C G rs62321738 BANK1 Nonsynonymous SNV S170R 0.116 0.117 0.058 44 136 45 0.113 17 7 2 0 2 12.31 45535 chr8 25718722 25718722 G A rs17054490 EBF2 Synonymous SNV A395A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 45536 chr4 154525541 154525541 A G rs114337333 TMEM131L Nonsynonymous SNV Y1126C 0.002 0 0 0 2 0 0 0 0 0 0 0 7.625 45537 chr8 26365716 26365716 C T rs2233701 PNMA2 Nonsynonymous SNV E186K 0.096 0.094 0.071 41 113 36 0.105 21 7 0 0 2 24.5 45538 chr4 140811063 140811063 - TGC rs778987314 MAML3 Q510_H511insQ 0.025 0.013 0.014 12 29 5 0.031 4 0 0 0 0 45539 chr4 169300938 169300938 C T rs61740720 DDX60L Nonsynonymous SNV R1387Q 0.044 0.047 0.061 20 52 18 0.051 18 2 1 2 0 16.13 45540 chr4 154553973 154553973 G A rs35897141 TMEM131L Synonymous SNV S1437S 0.045 0.044 0.058 26 53 17 0.067 17 1 0 0 2 6.308 45541 chr4 177243366 177243366 G T rs12504337 SPCS3 Synonymous SNV L63L 0.02 0.021 0.024 3 24 8 0.008 7 1 0 1 0 12.29 45542 chr4 141578253 141578253 C T rs13118702 TBC1D9 Nonsynonymous SNV E779K 0.015 0.008 0.003 5 18 3 0.013 1 0 0 0 0 25.1 45543 chr4 154669886 154669886 C G rs34803482 RNF175 Nonsynonymous SNV V53L 0.031 0.016 0.017 10 36 6 0.026 5 0 0 0 0 14.5 45544 chr4 169348404 169348404 C T rs2319850 DDX60L Nonsynonymous SNV A583T 0.071 0.063 0.071 27 83 24 0.069 21 2 0 1 1 3.769 45545 chr4 100349669 100349669 C G rs1573496 ADH7 Nonsynonymous SNV G92A 0.122 0.146 0.116 61 143 56 0.156 34 9 6 3 5 23.3 45546 chr8 27324844 27324844 G A rs2565061 CHRNA2 Synonymous SNV D117D 0.095 0.086 0.095 31 111 33 0.079 28 2 1 2 2 Benign 0.605 45547 chr8 27328511 27328511 G A rs2472553 CHRNA2 Nonsynonymous SNV T22I 0.086 0.083 0.095 25 101 32 0.064 28 1 1 2 2 Benign 0.001 45548 chr4 10447194 10447194 T G rs73224493 ZNF518B Nonsynonymous SNV Q253H 0.009 0.016 0.014 5 10 6 0.013 4 0 0 0 0 4.824 45549 chr4 144618732 144618732 C T rs376385517 FREM3 Nonsynonymous SNV D1033N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 45550 chr3 52514529 52514529 G A rs149560096 NISCH Synonymous SNV L582L 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 9.064 45551 chr4 169369862 169369862 A T rs10029536 DDX60L Nonsynonymous SNV N355K 0.03 0.018 0.044 7 35 7 0.018 13 0 0 2 0 11.43 45552 chr4 148560210 148560210 G A rs34852471 PRMT9 Synonymous SNV D436D 0.014 0.005 0.027 7 17 2 0.018 8 0 0 0 1 7.077 45553 chr4 41015823 41015823 G T rs2292234 APBB2 Synonymous SNV G204G 0.193 0.214 0.173 80 227 82 0.205 51 23 11 9 5 0.03 45554 chr8 27729532 27729532 G A rs61737291 SCARA5 Synonymous SNV I469I 0.151 0.146 0.16 50 177 56 0.128 47 15 4 3 3 12.63 45555 chr3 52537109 52537109 G A rs112337417 STAB1 Synonymous SNV Q226Q 0.051 0.065 0.061 26 60 25 0.067 18 2 1 2 1 4.418 45556 chr16 20344643 20344643 A G rs145165861 UMOD Nonsynonymous SNV F639S 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Likely benign 10.18 45557 chr8 27767231 27767231 C G rs17058207 SCARA5 Nonsynonymous SNV D316H 0.067 0.081 0.092 23 79 31 0.059 27 5 1 2 0 10.38 45558 chr8 27779093 27779093 G A rs118119884 SCARA5 Nonsynonymous SNV A304V 0.026 0.023 0.054 19 30 9 0.049 16 0 0 2 0 13.68 45559 chr3 52550173 52550173 G A rs148127040 STAB1 Nonsynonymous SNV E1355K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 19.12 45560 chr8 27898580 27898580 T C rs17058502 NUGGC Synonymous SNV R533R 0.121 0.117 0.116 46 142 45 0.118 34 13 3 1 3 0.016 45561 chr4 151791682 151791682 T C rs140666848 LRBA Nonsynonymous SNV N815S 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Benign/Likely benign 25.2 45562 chr8 27925796 27925796 A T rs10093400 NUGGC Synonymous SNV I139I 0.058 0.042 0.071 16 68 16 0.041 21 2 0 1 1 0.002 45563 chr4 170428901 170428901 C T rs33933790 NEK1 Nonsynonymous SNV A529T 0.087 0.07 0.078 27 102 27 0.069 23 3 0 4 1 Benign 22 45564 chr4 155713 155713 A G rs7440274 ZNF718 Nonsynonymous SNV H413R 0.118 0.117 0.156 63 139 45 0.162 46 10 4 7 7 4.527 45565 chr4 170476881 170476881 T G NEK1 Nonsynonymous SNV N518H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.873 45566 chr8 2808730 2808730 T A rs34337712 CSMD1 Nonsynonymous SNV Q3369H 0.037 0.057 0.037 11 44 22 0.028 11 0 0 0 0 7.356 45567 chr4 1006336 1006336 - GCC FGFRL1 A25_R26insA 0.004 0.013 0 0 5 5 0 0 0 0 0 0 45568 chr4 106863842 106863842 C T rs143758714 NPNT Nonsynonymous SNV P381L 0.018 0.016 0.007 6 21 6 0.015 2 0 0 0 0 19.77 45569 chr4 4276475 4276475 C T rs2272739 LYAR Nonsynonymous SNV D151N 0.032 0.039 0.02 11 38 15 0.028 6 0 0 0 0 11.93 45570 chr4 1719294 1719294 T C rs2236786 TMEM129 Synonymous SNV T263T 0.223 0.247 0.231 108 262 95 0.277 68 27 11 10 13 3.842 45571 chr4 4322670 4322670 C T rs34293093 ZBTB49 Nonsynonymous SNV A642V 0.024 0.016 0.027 5 28 6 0.013 8 0 0 1 0 12.58 45572 chr16 21042438 21042438 T A rs148202152 DNAH3 Nonsynonymous SNV I1744F 0.004 0.005 0.014 5 5 2 0.013 4 0 0 0 0 27.8 45573 chr16 21110077 21110077 C T rs761333598 DNAH3 Nonsynonymous SNV E748K 0 0 0 2 0 0 0.005 0 0 0 0 0 22 45574 chr4 46995366 46995366 G T rs2229940 GABRA4 Nonsynonymous SNV L26M 0.416 0.372 0.354 124 488 143 0.318 104 103 24 18 19 24.4 45575 chr4 1087362 1087362 C T rs59057706 RNF212 Synonymous SNV S229S 0.13 0.112 0.116 41 153 43 0.105 34 12 5 2 0 0.532 45576 chr4 47322219 47322219 C A rs6284 GABRB1 Synonymous SNV I179I 0.169 0.177 0.139 72 198 68 0.185 41 18 8 3 12 19.84 45577 chr4 1087393 1087393 G T rs616196 RNF212 Nonsynonymous SNV A219D 0.13 0.112 0.116 41 153 43 0.105 34 12 5 2 0 3.141 45578 chr4 47408709 47408709 A G rs6289 GABRB1 Synonymous SNV T282T 0.338 0.375 0.381 122 397 144 0.313 112 73 24 27 19 0.003 45579 chr17 3119758 3119758 A G rs148724990 OR1A1 Nonsynonymous SNV M282V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.23 45580 chr4 159640428 159640428 T C rs2230221 PPID Synonymous SNV K79K 0.039 0.036 0.024 14 46 14 0.036 7 0 1 0 0 11.71 45581 chr4 1087531 1087531 T C rs615381 RNF212 Nonsynonymous SNV Q173R 0.13 0.112 0.116 41 153 43 0.105 34 12 5 2 0 0.591 45582 chr4 47538044 47538044 G A rs35012290 ATP10D Nonsynonymous SNV A337T 0.092 0.089 0.071 29 108 34 0.074 21 3 1 3 1 24.2 45583 chr16 22122273 22122273 C T rs149744090 VWA3A Nonsynonymous SNV A216V 0.006 0.008 0.003 7 7 3 0.018 1 0 0 0 0 0.131 45584 chr4 159642576 159642576 G A rs2070631 PPID Nonsynonymous SNV R49C 0.037 0.036 0.024 13 43 14 0.033 7 0 1 0 0 31 45585 chr8 30242747 30242747 G C rs7813046 RBPMS-AS1 0.115 0.094 0.248 46 135 36 0.118 73 24 6 12 5 14.6 45586 chr4 1087617 1087617 C A rs614945 RNF212 Nonsynonymous SNV Q144H 0.13 0.112 0.116 41 153 43 0.105 34 12 5 2 0 1.444 45587 chr4 47560163 47560163 C A rs11729411 ATP10D Synonymous SNV I769I 0.257 0.26 0.252 98 302 100 0.251 74 34 15 9 13 17.06 45588 chr4 186272721 186272721 A G rs61731371 SNX25 Synonymous SNV S644S 0.02 0.021 0.048 24 23 8 0.062 14 0 0 0 2 11.07 45589 chr4 159780244 159780244 C G rs2276938 FNIP2 Nonsynonymous SNV T321S 0.069 0.081 0.048 30 81 31 0.077 14 2 2 0 1 3.81 45590 chr4 186320880 186320880 A G rs4631093 ANKRD37 Synonymous SNV K143K 0.028 0.026 0.051 31 33 10 0.079 15 0 0 0 2 2.75 45591 chr4 104059542 104059542 G A rs2243682 CENPE Nonsynonymous SNV T1969M 0.207 0.206 0.167 65 243 79 0.167 49 30 13 2 4 11.86 45592 chr4 186320906 186320906 C G rs4317244 ANKRD37 Nonsynonymous SNV T152S 0.028 0.026 0.048 30 33 10 0.077 14 0 0 0 2 0.001 45593 chr4 104066461 104066461 A G rs2615542 CENPE Nonsynonymous SNV F1510L 0.204 0.203 0.136 64 240 78 0.164 40 30 13 2 4 0.005 45594 chr4 17635336 17635336 G A rs61741403 FAM184B Nonsynonymous SNV S1022F 0.049 0.034 0.037 19 58 13 0.049 11 1 0 0 1 21.2 45595 chr4 155250786 155250786 G A rs34249493 DCHS2 Synonymous SNV R1269R 0.036 0.068 0.037 20 42 26 0.051 11 1 0 0 1 13.38 45596 chr4 104102563 104102563 T C rs17217250 CENPE Synonymous SNV V338V 0.205 0.206 0.167 65 241 79 0.167 49 30 13 2 4 9.205 45597 chr4 104117191 104117191 A G rs2290943 CENPE Synonymous SNV T81T 0.207 0.206 0.167 64 243 79 0.164 49 30 13 2 3 0.052 45598 chr8 31024654 31024654 T C rs1346044 WRN Nonsynonymous SNV C1367R 0.249 0.193 0.231 87 292 74 0.223 68 38 8 7 11 Benign 11.91 45599 chr4 48424058 48424058 C T rs17609614 SLAIN2 Synonymous SNV S570S 0.021 0.042 0.024 23 25 16 0.059 7 0 0 0 0 10.67 45600 chr4 106155185 106155185 C G rs12498609 TET2 Nonsynonymous SNV P29R 0.026 0.016 0.051 14 30 6 0.036 15 1 0 0 0 not provided 24.2 45601 chr8 32453358 32453358 G A rs3924999 NRG1 Nonsynonymous SNV R38Q 0.406 0.396 0.391 163 477 152 0.418 115 119 37 21 36 26 45602 chr4 110890274 110890274 G A rs115396821 EGF Nonsynonymous SNV G533R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 26 45603 chr4 1656850 1656850 G A rs62287701 FAM53A Nonsynonymous SNV T246M 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 24.1 45604 chr4 48492722 48492722 C T rs117545505 ZAR1 Synonymous SNV A138A 0.021 0.039 0.031 16 25 15 0.041 9 1 0 0 0 15.69 45605 chr8 32611970 32611970 G T rs74942016 NRG1 Nonsynonymous SNV V107L 0.066 0.081 0.075 19 78 31 0.049 22 2 3 0 0 29.6 45606 chr8 32621702 32621702 C G rs754554043 NRG1 Nonsynonymous SNV Q412E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 45607 chr4 113186198 113186198 C T rs116585845 AP1AR Nonsynonymous SNV P106S 0.009 0.008 0.01 1 10 3 0.003 3 0 0 0 0 8.994 45608 chr4 186541301 186541301 A G rs61753946 SORBS2 Synonymous SNV R740R 0.083 0.104 0.126 34 98 40 0.087 37 2 4 2 2 5.371 45609 chr4 49034670 49034670 A - rs147750792 CWH43 Stop gain L506* 0.016 0.034 0.024 10 19 13 0.026 7 0 0 1 0 45610 chr4 52942986 52942986 G A rs139687172 SPATA18 Nonsynonymous SNV R42H 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Likely benign 13.06 45611 chr4 17829990 17829990 G C rs3795243 NCAPG Nonsynonymous SNV M581I 0.154 0.143 0.16 67 181 55 0.172 47 16 1 5 5 10.85 45612 chr4 53751932 53751932 C T rs2306600 SCFD2 Synonymous SNV S648S 0.061 0.081 0.068 33 72 31 0.085 20 3 2 0 2 9.785 45613 chr4 1803704 1803704 T C rs2234909 FGFR3 Synonymous SNV N294N 0.204 0.185 0.228 75 239 71 0.192 67 27 7 6 6 Benign 2.721 45614 chr8 3351147 3351147 G A rs17066296 CSMD1 Synonymous SNV Y482Y 0.076 0.086 0.078 35 89 33 0.09 23 8 0 1 0 7.439 45615 chr4 1805502 1805502 C T rs4647928 FGFR3 Synonymous SNV T338T 0.018 0.023 0.014 5 21 9 0.013 4 0 1 0 0 Benign 15.69 45616 chr8 3351195 3351195 C A rs56109797 CSMD1 Synonymous SNV L466L 0.081 0.089 0.078 36 95 34 0.092 23 8 0 1 0 12.39 45617 chr4 156274377 156274377 T C rs1058992 MAP9 Nonsynonymous SNV K499R 0.203 0.182 0.116 83 238 70 0.213 34 30 6 5 10 11.41 45618 chr16 27370288 27370288 C G rs2234896 IL4R Synonymous SNV L274L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 8.87 45619 chr4 55127448 55127448 G A rs36035373 PDGFRA Nonsynonymous SNV G79D 0.024 0.013 0.024 8 28 5 0.021 7 0 0 0 0 Benign/Likely benign 25.5 45620 chr4 183710332 183710332 G A rs61736044 TENM3 Synonymous SNV L1797L 0.074 0.107 0.088 40 87 41 0.103 26 2 3 2 2 Benign 10.62 45621 chr4 183713630 183713630 A G rs6857162 TENM3 Synonymous SNV L1935L 0.078 0.107 0.102 39 91 41 0.1 30 2 4 2 2 Benign 0.699 45622 chr4 156721098 156721098 G A rs17854507 GUCY1B1 Synonymous SNV T281T 0.061 0.039 0.058 28 72 15 0.072 17 3 2 0 1 12.39 45623 chr8 38271466 38271466 C T rs56341011 FGFR1 Synonymous SNV L665L 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 Benign 10.28 45624 chr8 38458109 38458109 C A rs327933 RNF5P1 0 0 0.782 0 0 0 0 230 0 0 93 0 10.03 45625 chr8 38458552 38458552 - TCT rs55960313 RNF5P1 0 0 0.997 0 0 0 0 293 0 0 146 0 45626 chr4 56874517 56874517 A C rs3214045 CEP135 Nonsynonymous SNV I769L 0.243 0.323 0.231 82 285 124 0.21 68 30 24 9 14 Benign 0.001 45627 chr8 38458659 38458659 C T rs327934 RNF5P1 0 0 0.997 0 0 0 0 293 0 0 146 0 17.06 45628 chr17 3947588 3947588 C T rs35284780 ZZEF1 Synonymous SNV S2032S 0.085 0.086 0.078 29 100 33 0.074 23 7 1 1 1 8.436 45629 chr8 38458696 38458696 T C rs7812668 RNF5P1 0 0 0.197 0 0 0 0 58 0 0 6 0 13.98 45630 chr8 38677322 38677322 C T rs34235313 TACC1 Nonsynonymous SNV P187L 0.057 0.063 0.071 33 67 24 0.085 21 1 0 1 2 0.124 45631 chr4 5690902 5690902 T C rs4689278 EVC2 Nonsynonymous SNV S150G 0.254 0.281 0.262 99 298 108 0.254 77 37 15 11 12 Benign 7.914 45632 chr4 1165748 1165748 T C rs6836335 SPON2 Nonsynonymous SNV R38G 0.167 0.151 0.126 68 196 58 0.174 37 16 7 2 3 7.328 45633 chr4 57180563 57180563 G C rs59615456 CRACD Nonsynonymous SNV G299R 0.226 0.214 0.344 78 265 82 0.2 101 90 27 22 23 0.428 45634 chr4 110772711 110772711 C T rs17040904 LRIT3 Synonymous SNV P56P 0.062 0.057 0.058 25 73 22 0.064 17 2 2 1 0 Likely benign 9.192 45635 chr4 159133858 159133858 C T rs11556228 TMEM144 Synonymous SNV I13I 0.024 0.026 0.017 10 28 10 0.026 5 0 0 0 1 10.82 45636 chr4 118005908 118005908 G A rs138940045 TRAM1L1 Synonymous SNV Y214Y 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 0.054 45637 chr4 57181629 57181629 C T rs61750793 CRACD Nonsynonymous SNV P654L 0.325 0.305 0.344 113 382 117 0.29 101 67 18 14 15 0.279 45638 chr17 3977532 3977532 G A rs34760976 ZZEF1 Synonymous SNV A1199A 0.132 0.148 0.119 39 155 57 0.1 35 8 3 2 1 10.92 45639 chr4 57181995 57181995 C T rs3796547 CRACD Nonsynonymous SNV S776L 0.39 0.354 0.422 135 458 136 0.346 124 93 27 23 22 15.25 45640 chr4 110882051 110882051 T C rs11568937 EGF Synonymous SNV H323H 0.039 0.044 0.041 18 46 17 0.046 12 1 1 1 0 Likely benign 1.969 45641 chr4 170483338 170483338 T C rs780547342 NEK1 Nonsynonymous SNV T344A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.859 45642 chr4 57182647 57182647 G A rs3822003 CRACD Synonymous SNV A993A 0.357 0.318 0.384 131 419 122 0.336 113 79 22 21 20 9.76 45643 chr4 57182758 57182758 C T rs28559894 CRACD Synonymous SNV D1030D 0.39 0.354 0.422 137 458 136 0.351 124 93 27 23 22 12.88 45644 chr4 111431444 111431444 G A rs33966350 ENPEP Stop gain W413X 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 42 45645 chr4 120170027 120170027 C T rs138336905 USP53 Nonsynonymous SNV A121V 0.011 0.023 0.01 10 13 9 0.026 3 0 0 0 0 35 45646 chr17 4391185 4391185 C G rs149163440 SPNS3 Nonsynonymous SNV P385R 0.037 0.031 0.034 12 44 12 0.031 10 2 1 0 0 23.1 45647 chr8 42036577 42036577 A G rs1136159 PLAT Synonymous SNV S367S 0.145 0.201 0.116 62 170 77 0.159 34 11 6 4 0 7.923 45648 chr4 185655190 185655190 C G rs876840 CENPU Synonymous SNV P9P 0.17 0.172 0.126 61 200 66 0.156 37 18 7 3 6 12.42 45649 chr16 28909622 28909622 G A rs12596913 ATP2A1 Synonymous SNV T413T 0.005 0.01 0.017 4 6 4 0.01 5 0 0 0 0 Benign/Likely benign 8.415 45650 chr8 42037802 42037802 C G PLAT Nonsynonymous SNV V305L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.466 45651 chr8 42038194 42038194 C T PLAT Nonsynonymous SNV G211D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 45652 chr8 42821726 42821726 A G HOOK3 Nonsynonymous SNV Q297R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 45653 chr4 189018486 189018486 A G rs17883789 TRIML2 Synonymous SNV S237S 0.109 0.078 0.116 43 128 30 0.11 34 5 1 1 3 0.043 45654 chr4 5830296 5830296 C T rs34611001 CRMP1 Nonsynonymous SNV V575I 0.015 0.005 0.01 7 18 2 0.018 3 0 0 0 0 23 45655 chr4 189020293 189020293 G A rs11736108 TRIML2 Synonymous SNV L173L 0.035 0.029 0.017 13 41 11 0.033 5 1 0 0 0 8.516 45656 chr4 186366178 186366178 G - rs35715260 C4orf47 V133Wfs*29 0.032 0.023 0.02 4 38 9 0.01 6 1 0 1 0 45657 chr8 47759712 47759712 T G rs3849804 LINC00293 0 0 0.714 0 0 0 0 210 0 0 77 0 7.438 45658 chr4 5830393 5830393 C T rs61746000 CRMP1 Synonymous SNV A542A 0.017 0.013 0.027 7 20 5 0.018 8 0 0 1 0 0.728 45659 chr4 5841320 5841320 C T rs747754055 CRMP1 Synonymous SNV A413A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.78 45660 chr8 49987801 49987801 A G rs72641628 PPDPFL Nonsynonymous SNV S81G 0.029 0.018 0.034 11 34 7 0.028 10 0 0 0 1 4.335 45661 chr4 5841350 5841350 A G rs16837723 CRMP1 Synonymous SNV H403H 0.068 0.083 0.129 26 80 32 0.067 38 4 5 3 0 8.718 45662 chr8 52284560 52284560 A T rs117752382 PXDNL Stop gain C1258X 0.042 0.044 0.054 15 49 17 0.038 16 1 1 0 0 36 45663 chr8 52366217 52366217 G A rs6473600 PXDNL Synonymous SNV L371L 0.155 0.146 0.15 64 182 56 0.164 44 13 6 3 10 6.991 45664 chr4 2332705 2332705 C T rs114319877 ZFYVE28 Nonsynonymous SNV G258R 0.026 0.034 0.017 3 31 13 0.008 5 0 1 0 0 0.212 45665 chr8 52366300 52366300 A G rs7833909 PXDNL Nonsynonymous SNV I343T 0.155 0.146 0.15 68 182 56 0.174 44 13 6 3 10 13.92 45666 chr3 66293688 66293688 A G rs3772197 SLC25A26 Synonymous SNV S84S 0.092 0.104 0.065 48 108 40 0.123 19 3 1 0 1 Benign 3.654 45667 chr8 52396241 52396241 T C rs7837348 PXDNL Synonymous SNV P162P 0.113 0.107 0.146 54 133 41 0.138 43 12 6 2 7 Benign 0.035 45668 chr4 186544879 186544879 G C rs61910743 SORBS2 Synonymous SNV P468P 0.079 0.104 0.109 33 93 40 0.085 32 1 4 2 2 0.015 45669 chr8 56362222 56362222 A T rs2622585 SBF1P1 0 0 0.306 0 0 0 0 90 0 0 14 0 1.041 45670 chr8 56363325 56363325 T A rs2929052 SBF1P1 0 0 0.724 0 0 0 0 213 0 0 76 0 5.134 45671 chr8 56364382 56364382 A G rs2939634 SBF1P1 0 0 0.401 0 0 0 0 118 0 0 23 0 4.885 45672 chr4 187026558 187026558 C T rs115055267 FAM149A Nonsynonymous SNV P110S 0.029 0.023 0.054 11 34 9 0.028 16 4 0 3 1 4.758 45673 chr16 30536798 30536798 C T rs138236969 ZNF768 Synonymous SNV G221G 0.004 0.013 0 9 5 5 0.023 0 0 0 0 0 2.183 45674 chr8 56365320 56365320 G T rs2929048 SBF1P1 0 0 0.35 0 0 0 0 103 0 0 23 0 2.224 45675 chr8 56365451 56365451 G A rs2975982 SBF1P1 0 0 0.367 0 0 0 0 108 0 0 23 0 3.04 45676 chr8 56365521 56365521 T A rs2929047 SBF1P1 0 0 0.381 0 0 0 0 112 0 0 23 0 7.421 45677 chr8 56365578 56365578 T C rs867531 SBF1P1 0 0 0.391 0 0 0 0 115 0 0 23 0 0.106 45678 chr4 123140528 123140528 G A KIAA1109 Nonsynonymous SNV D761N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 31 45679 chr8 56365721 56365721 C G rs867530 SBF1P1 0 0 0.401 0 0 0 0 118 0 0 23 0 5.586 45680 chr8 56366448 56366448 A G rs2622584 SBF1P1 0 0 0.071 0 0 0 0 21 0 0 1 0 0.208 45681 chr16 30583549 30583549 T A rs200869612 ZNF688 Synonymous SNV G16G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.286 45682 chr8 56366472 56366472 C T rs2939637 SBF1P1 0 0 0.32 0 0 0 0 94 0 0 19 0 7.703 45683 chr8 56366502 56366502 T C rs2975980 SBF1P1 0 0 0.99 0 0 0 0 291 0 0 145 0 0.509 45684 chr8 56366533 56366533 G A rs2929044 SBF1P1 0 0 0.381 0 0 0 0 112 0 0 22 0 8.713 45685 chr4 6302545 6302545 C T rs56072215 WFS1 Synonymous SNV F341F 0.091 0.086 0.102 30 107 33 0.077 30 5 2 3 2 Benign 11.97 45686 chr8 56366542 56366542 A T rs2939638 SBF1P1 0 0 0.384 0 0 0 0 113 0 0 22 0 3.859 45687 chr8 56366735 56366735 G A rs2929043 SBF1P1 0 0 0.344 0 0 0 0 101 0 0 21 0 10.01 45688 chr8 56367267 56367267 A T rs2939639 SBF1P1 0 0 0.333 0 0 0 0 98 0 0 20 0 2.709 45689 chr8 56367386 56367386 A C rs6473988 SBF1P1 0 0 0.997 0 0 0 0 293 0 0 146 0 1.987 45690 chr4 17829958 17829958 A G rs148449510 NCAPG Nonsynonymous SNV M571V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.4 45691 chr8 56367387 56367387 A T rs6473989 SBF1P1 0 0 0.997 0 0 0 0 293 0 0 146 0 2.329 45692 chr8 56367419 56367419 A T rs2929042 SBF1P1 0 0 0.997 0 0 0 0 293 0 0 146 0 1.714 45693 chr8 56367622 56367622 A C rs2975979 SBF1P1 0 0 0.956 0 0 0 0 281 0 0 140 0 1.249 45694 chr4 6303247 6303247 C T rs2230719 WFS1 Synonymous SNV A575A 0.089 0.083 0.102 29 104 32 0.074 30 4 2 3 2 Benign 14.08 45695 chr8 56985814 56985814 T C rs1050403 RPS20 Synonymous SNV T65T 0.239 0.206 0.238 87 280 79 0.223 70 42 8 10 10 2.541 45696 chr17 4787720 4787720 C T rs6502827 MINK1 Synonymous SNV N123N 0.019 0.023 0.017 3 22 9 0.008 5 1 0 0 0 10.17 45697 chr8 56986417 56986417 A G rs17814456 SNORD54 0.266 0.224 0.265 95 312 86 0.244 78 41 8 10 10 9.501 45698 chr4 6303844 6303844 G A rs2230721 WFS1 Synonymous SNV K774K 0.089 0.083 0.102 29 104 32 0.074 30 4 2 3 2 Benign 6.175 45699 chr8 57026229 57026229 C A rs35392772 MOS Nonsynonymous SNV A105S 0.204 0.18 0.218 65 240 69 0.167 64 29 4 6 5 33 45700 chr17 4836673 4836673 C T rs6066 GP1BA Synonymous SNV N258N 0.017 0.018 0.007 4 20 7 0.01 2 0 0 0 0 Benign 4.458 45701 chr8 57078933 57078933 G T rs35883156 PLAG1 Nonsynonymous SNV P376T 0.262 0.211 0.245 90 308 81 0.231 72 40 5 10 7 6.976 45702 chr4 187122332 187122332 G A rs34745240 CYP4V2 Nonsynonymous SNV E275K 0.053 0.07 0.048 8 62 27 0.021 14 3 2 1 1 Benign/Likely benign 19.16 45703 chr8 59329438 59329438 A G rs13277646 UBXN2B Synonymous SNV E38E 0.232 0.237 0.18 90 272 91 0.231 53 30 11 6 10 9.686 45704 chr4 26719569 26719569 T C rs34600164 TBC1D19 Synonymous SNV F258F 0.102 0.055 0.119 44 120 21 0.113 35 8 0 1 3 2.875 45705 chr17 4876148 4876148 G A rs139511595 CAMTA2 Nonsynonymous SNV R809C 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 34 45706 chr4 187195373 187195373 C T rs5973 F11 Synonymous SNV D143D 0.046 0.063 0.041 7 54 24 0.018 12 1 1 0 1 Benign 11.36 45707 chr17 4883450 4883450 T C rs11078541 CAMTA2 Synonymous SNV T391T 0.099 0.094 0.085 41 116 36 0.105 25 9 4 1 2 0.34 45708 chr4 1843424 1843424 T C rs61759826 LETM1 Nonsynonymous SNV I82V 0.006 0.003 0.017 3 7 1 0.008 5 0 0 0 0 Benign 0.001 45709 chr8 6302154 6302154 G T rs2083914 MCPH1 Nonsynonymous SNV R256I 0.21 0.203 0.197 82 247 78 0.21 58 26 10 6 7 Benign 18.54 45710 chr4 184366145 184366145 C T rs11539203 CDKN2AIP Synonymous SNV S65S 0.039 0.031 0.037 11 46 12 0.028 11 0 0 1 1 13.1 45711 chr17 4892176 4892176 C G rs74744272 INCA1 Nonsynonymous SNV E138D 0.098 0.094 0.092 44 115 36 0.113 27 9 4 1 3 5.857 45712 chr4 187455099 187455099 G A rs28383652 MTNR1A Nonsynonymous SNV A266V 0.035 0.047 0.027 13 41 18 0.033 8 1 0 0 0 0.657 45713 chr4 170345893 170345893 C T rs7655924 NEK1 Synonymous SNV P914P 0.053 0.065 0.041 31 62 25 0.079 12 3 1 0 1 Benign 10.24 45714 chr17 4904564 4904564 T C rs17707385 KIF1C Synonymous SNV I77I 0.089 0.078 0.088 35 105 30 0.09 26 9 4 1 2 Benign 7.456 45715 chr4 125592440 125592440 T C rs3733472 ANKRD50 Synonymous SNV L485L 0.065 0.044 0.071 24 76 17 0.062 21 1 0 1 1 0.002 45716 chr4 170429402 170429402 T C rs17544885 NEK1 Synonymous SNV E513E 0.044 0.047 0.024 23 52 18 0.059 7 0 1 0 1 Benign 0.098 45717 chr4 289877 289877 G T rs62619793 ZNF732 Nonsynonymous SNV A24D 0.07 0.052 0.048 25 82 20 0.064 14 4 1 0 1 13.49 45718 chr4 66535284 66535284 G A rs55860557 EPHA5 Synonymous SNV N59N 0.136 0.133 0.071 38 160 51 0.097 21 10 3 0 1 15.12 45719 chr4 170634408 170634408 A G rs1010713 CLCN3 Synonymous SNV R749R 0.077 0.099 0.058 40 90 38 0.103 17 4 2 1 1 7.879 45720 chr8 63951237 63951237 C T rs11545077 GGH Nonsynonymous SNV A31T 0.273 0.279 0.194 94 320 107 0.241 57 46 16 7 11 8.199 45721 chr8 63951312 63951312 A G rs1800909 GGH Nonsynonymous SNV C6R 0.294 0.299 0.228 106 345 115 0.272 67 55 18 9 15 0.841 45722 chr3 77693928 77693928 T G rs758687620 ROBO2 Synonymous SNV S1336S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 0.394 45723 chr4 187539588 187539588 T C rs3733406 FAT1 Nonsynonymous SNV I2718V 0.086 0.091 0.071 27 101 35 0.069 21 5 0 0 0 5.367 45724 chr4 187540996 187540996 C T rs11931107 FAT1 Synonymous SNV P2248P 0.055 0.073 0.054 18 65 28 0.046 16 4 0 0 0 7.891 45725 chr4 30725272 30725272 C T rs36037995 PCDH7 Nonsynonymous SNV T743I 0.019 0.026 0.027 4 22 10 0.01 8 0 0 0 0 Benign 15.18 45726 chr4 126412659 126412659 C T rs35862879 FAT4 Synonymous SNV H4895H 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign/Likely benign 7.037 45727 chr8 65290650 65290650 C T rs298212 MIR124-2HG 0 0 0.636 0 0 0 0 187 0 0 71 0 7.428 45728 chr8 65493429 65493429 T G rs7016250 BHLHE22 Nonsynonymous SNV S28A 0.352 0.32 0.296 128 413 123 0.328 87 74 23 14 20 0.068 45729 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 45730 chr4 6956059 6956059 T C rs11732887 TBC1D14 Nonsynonymous SNV M11T 0.326 0.305 0.282 124 383 117 0.318 83 62 14 14 17 6.463 45731 chr8 65493532 65493532 T A rs62519835 BHLHE22 Nonsynonymous SNV L62Q 0.095 0.089 0.143 32 111 34 0.082 42 11 4 3 2 25.5 45732 chr4 123663163 123663163 T C rs138036823 BBS12 Nonsynonymous SNV I39T 0.018 0.016 0.01 7 21 6 0.018 3 1 0 0 0 Conflicting interpretations of pathogenicity 25.7 45733 chr8 65493617 65493617 - GGC rs544639534 BHLHE22 G97_V98insG 0.036 0.018 0.126 7 42 7 0.018 37 7 1 3 2 45734 chr8 66439551 66439551 T C rs7825011 LINC01299 0 0 0.616 0 0 0 0 181 0 0 62 0 1.441 45735 chr4 128802306 128802306 G A rs149003893 PLK4 Nonsynonymous SNV G6E 0.014 0.005 0.003 3 16 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 45736 chr4 3076672 3076672 A G rs76533208 HTT Synonymous SNV P40P 0.056 0.07 0.048 19 66 27 0.049 14 9 7 4 1 2.533 45737 chr8 6692968 6692968 C T rs2977806 XKR5 Synonymous SNV E16E 0.497 0.539 0.466 188 583 207 0.482 137 172 69 42 50 20.5 45738 chr8 6699486 6699486 C G rs2951830 GS1-24F4.2 0 0 0.5 0 0 0 0 147 0 0 39 0 3.64 45739 chr16 50659417 50659417 A G rs200020201 NKD1 Nonsynonymous SNV M130V 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.089 45740 chr4 70346564 70346564 G T rs13142440 UGT2B4 Synonymous SNV R459R 0.184 0.18 0.146 70 216 69 0.179 43 20 5 5 7 9.282 45741 chr8 6699538 6699538 T C rs2702846 GS1-24F4.2 0 0 0.52 0 0 0 0 153 0 0 42 0 0.268 45742 chr8 67341938 67341938 G T rs3739336 RRS1 Nonsynonymous SNV R191L 0.051 0.039 0.041 24 60 15 0.062 12 0 1 0 0 29 45743 chr4 70346565 70346565 A T rs13119049 UGT2B4 Nonsynonymous SNV D458E 0.184 0.18 0.146 70 216 69 0.179 43 20 5 5 7 23.2 45744 chr8 67369355 67369355 G C rs2555588 ADHFE1 Synonymous SNV T372T 0.239 0.255 0.235 99 280 98 0.254 69 36 12 8 12 9.435 45745 chr4 175899001 175899001 - CAGAGTCAACCTCCTGTGATGCCTTCCCAGAGTCATCCTCAGTTGACGCCTTCC ADAM29 V799_T800insMPSQSHPQLTPSQSQPPV 0.173 0.159 0.173 53 203 61 0.136 51 21 6 5 3 45746 chr8 67577061 67577061 T C rs61753691 VCPIP1 Synonymous SNV K711K 0.014 0.021 0.017 8 17 8 0.021 5 0 0 1 0 0.046 45747 chr4 189060739 189060739 C T rs140844112 TRIML1 Synonymous SNV N9N 0.015 0.029 0.017 6 18 11 0.015 5 0 0 0 0 3.201 45748 chr4 3230411 3230413 GAG - rs149109767 HTT E2643del 0.036 0.055 0.01 17 42 21 0.044 3 0 1 0 1 45749 chr4 189061024 189061024 G A rs73023226 TRIML1 Synonymous SNV A104A 0.048 0.042 0.054 16 56 16 0.041 16 2 0 1 1 9.261 45750 chr8 68213477 68213477 T G rs61753696 ARFGEF1 Synonymous SNV T98T 0.022 0.021 0.017 11 26 8 0.028 5 1 1 1 0 Benign 9.294 45751 chr16 50756540 50756540 G C rs2066845 NOD2 Nonsynonymous SNV G881R 0.033 0.023 0.031 18 39 9 0.046 9 2 1 0 0 Conflicting interpretations of pathogenicity, risk factor 31 45752 chr4 124235173 124235173 G A rs368041677 SPATA5 Nonsynonymous SNV R878H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.6 45753 chr4 3429860 3429860 A G RGS12 Synonymous SNV T477T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 45754 chr8 70588878 70588878 T C rs10448034 SLCO5A1 Synonymous SNV A630A 0.159 0.164 0.126 61 187 63 0.156 37 15 6 2 4 4.832 45755 chr4 3444593 3444593 G A rs2073504 HGFAC Synonymous SNV P84P 0.189 0.161 0.187 68 222 62 0.174 55 16 6 5 3 6.321 45756 chr4 129792810 129792810 G A rs141808337 JADE1 Nonsynonymous SNV R629H 0.011 0.008 0 8 13 3 0.021 0 0 0 0 0 23.8 45757 chr16 50827518 50827518 C T rs2066852 CYLD Synonymous SNV D801D 0.124 0.12 0.129 47 146 46 0.121 38 6 2 2 4 Benign 15.69 45758 chr4 3446091 3446091 G T rs3748034 HGFAC Nonsynonymous SNV A218S 0.12 0.135 0.122 52 141 52 0.133 36 5 5 2 3 22.9 45759 chr4 129891542 129891542 C A rs141863899 SCLT1 Nonsynonymous SNV M256I 0.011 0.008 0.003 7 13 3 0.018 1 0 0 0 0 Benign 16.85 45760 chr8 71039118 71039118 C G rs2228591 NCOA2 Nonsynonymous SNV M1213I 0.08 0.083 0.068 25 94 32 0.064 20 4 1 1 1 1.512 45761 chr8 71573259 71573259 C T rs35863913 LACTB2-AS1 0 0 0.401 0 0 0 0 118 0 0 17 0 5.183 45762 chr4 71114956 71114956 G T rs1048152 CSN3 Nonsynonymous SNV R110L 0.121 0.141 0.129 44 142 54 0.113 38 10 3 3 1 10.88 45763 chr8 71574251 71574251 A T rs17760050 LACTB2-AS1 0 0 0.395 0 0 0 0 116 0 0 31 0 3.551 45764 chr4 2160894 2160894 C T rs10488836 POLN Synonymous SNV L533L 0.111 0.115 0.105 49 130 44 0.126 31 8 1 2 3 13.78 45765 chr8 71593425 71593425 G A rs6991329 XKR9 Synonymous SNV A44A 0.475 0.464 0.503 185 558 178 0.474 148 131 45 34 46 10.55 45766 chr8 72755647 72755647 - T rs35471181 MSC-AS1 0 0 0.224 0 0 0 0 66 0 0 8 0 45767 chr4 2175733 2175733 A G rs2022302 POLN Synonymous SNV H441H 0.21 0.185 0.16 76 247 71 0.195 47 21 5 5 6 0.007 45768 chr8 72966002 72966002 G A rs3735943 TRPA1 Synonymous SNV L544L 0.521 0.51 0.469 208 612 196 0.533 138 166 56 32 58 7.171 45769 chr8 72966124 72966124 A G rs3735944 MSC-AS1 0.521 0.508 0.463 209 612 195 0.536 136 166 56 32 58 2.376 45770 chr8 72975801 72975801 T G rs7819749 TRPA1 Nonsynonymous SNV K186N 0.631 0.617 0.575 239 741 237 0.613 169 237 73 51 77 0.958 45771 chr4 2176454 2176454 G A rs9328764 POLN Nonsynonymous SNV R425C 0.209 0.185 0.156 75 245 71 0.192 46 21 5 5 6 23.1 45772 chr4 71227877 71227877 G A rs62322478 SMR3A Synonymous SNV A15A 0.106 0.109 0.112 49 124 42 0.126 33 5 2 4 4 5.941 45773 chr8 72981318 72981318 G A rs28546865 TRPA1 Synonymous SNV N128N 0.107 0.102 0.105 31 126 39 0.079 31 4 3 4 1 2.548 45774 chr4 2181080 2181080 T C rs6830513 POLN Synonymous SNV T378T 0.21 0.185 0.156 76 246 71 0.195 46 21 5 5 6 0.01 45775 chr8 72981327 72981327 A G rs1811457 TRPA1 Synonymous SNV N125N 0.629 0.615 0.582 238 739 236 0.61 171 237 73 51 77 0.041 45776 chr4 177142611 177142611 G A rs35698542 ASB5 Synonymous SNV A175A 0.043 0.039 0.02 28 51 15 0.072 6 2 0 0 0 10.52 45777 chr4 2194946 2194946 C T rs10011549 POLN Nonsynonymous SNV G336S 0.21 0.185 0.146 76 246 71 0.195 43 21 5 5 6 0.844 45778 chr8 72984041 72984041 C G rs16937976 TRPA1 Nonsynonymous SNV R58T 0.234 0.245 0.235 74 275 94 0.19 69 38 12 9 8 0.02 45779 chr4 177632687 177632687 T C rs767627714 VEGFC Nonsynonymous SNV I224V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 45780 chr8 72987638 72987638 G A rs13268757 TRPA1 Nonsynonymous SNV R3C 0.234 0.245 0.177 74 275 94 0.19 52 38 12 7 8 22 45781 chr4 2194953 2194953 G A rs10002583 POLN Synonymous SNV G333G 0.21 0.185 0.146 76 246 71 0.195 43 21 5 5 6 7.161 45782 chr4 2195024 2195024 T G rs10018786 POLN Nonsynonymous SNV M310L 0.21 0.185 0.122 76 246 71 0.195 36 21 5 5 6 0.022 45783 chr4 367275 367275 A G rs782232303 ZNF141 Nonsynonymous SNV Q274R 0.181 0.177 0.085 64 212 68 0.164 25 0 0 0 0 1.659 45784 chr4 71469006 71469006 C T rs113360877 AMBN Synonymous SNV H226H 0.012 0.008 0.007 5 14 3 0.013 2 0 0 0 0 7.622 45785 chr4 367280 367280 T A ZNF141 Nonsynonymous SNV S276T 0.066 0.073 0.041 24 78 28 0.062 12 0 0 0 0 22.1 45786 chr4 138442525 138442525 G A rs144391842 PCDH18 Synonymous SNV T1021T 0.022 0.021 0.051 6 26 8 0.015 15 1 0 0 0 6.671 45787 chr4 3769500 3769500 C T rs7434630 ADRA2C Synonymous SNV G389G 0.062 0.065 0.095 20 73 25 0.051 28 0 2 2 0 14.6 45788 chr4 138442527 138442527 T C rs151070417 PCDH18 Nonsynonymous SNV T1021A 0.021 0.021 0.048 6 25 8 0.015 14 1 0 0 0 1.849 45789 chr8 75614614 75614614 C A rs269198 MIR2052HG 0 0 0.248 0 0 0 0 73 0 0 12 0 6.75 45790 chr8 77765577 77765577 G A rs575188671 ZFHX4 Synonymous SNV Q2140Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.364 45791 chr8 77765865 77765865 C T rs2728455 ZFHX4 Synonymous SNV Y2236Y 0.247 0.255 0.184 108 290 98 0.277 54 38 9 5 13 9.936 45792 chr17 7192970 7192970 G A rs756982334 YBX2 Nonsynonymous SNV P308L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.8 45793 chr8 80523435 80523435 C T STMN2 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 45794 chr8 81426196 81426196 C A rs76767219 ZBTB10 Nonsynonymous SNV A638E 0.021 0.031 0.037 12 25 12 0.031 11 1 0 0 0 23.4 45795 chr4 74124144 74124144 C G rs536663849 ANKRD17 Nonsynonymous SNV R81P 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 25.2 45796 chr4 25236017 25236017 T C rs313549 PI4K2B Nonsynonymous SNV S78P 0.09 0.089 0.088 32 106 34 0.082 26 50 16 13 14 4.716 45797 chr8 8234077 8234077 G C rs4840952 PRAG1 Synonymous SNV A614A 0.293 0.268 0.289 118 344 103 0.303 85 46 14 12 19 5.204 45798 chr8 8234192 8234192 G C rs4840953 PRAG1 Nonsynonymous SNV S576C 0.304 0.292 0.296 124 357 112 0.318 87 51 15 12 19 7.256 45799 chr4 143067054 143067054 G A rs35390852 INPP4B Synonymous SNV G553G 0.081 0.076 0.099 31 95 29 0.079 29 4 3 0 0 6.835 45800 chr8 8234218 8234218 C T rs4840954 PRAG1 Synonymous SNV P567P 0.304 0.294 0.296 124 357 113 0.318 87 51 15 12 19 12.39 45801 chr8 8234219 8234219 G A rs4840955 PRAG1 Nonsynonymous SNV P567L 0.304 0.294 0.296 124 357 113 0.318 87 51 15 12 19 25.4 45802 chr4 187630590 187630590 G A rs3733415 FAT1 Nonsynonymous SNV A131V 0.181 0.188 0.17 69 213 72 0.177 50 22 11 5 4 22.8 45803 chr8 8234714 8234714 C T rs3896980 PRAG1 Nonsynonymous SNV R402Q 0.303 0.292 0.289 124 356 112 0.318 85 51 15 12 19 13.65 45804 chr4 134073327 134073327 C T rs758373644 PCDH10 Synonymous SNV L678L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.583 45805 chr4 7435481 7435481 G A rs201082440 PSAPL1 Nonsynonymous SNV H376Y 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 0.002 45806 chr8 8234904 8234904 C T rs201521501 PRAG1 Nonsynonymous SNV D339N 0.009 0.003 0.017 1 10 1 0.003 5 0 0 0 0 26.5 45807 chr8 8235297 8235297 G A rs180898867 PRAG1 Nonsynonymous SNV R208C 0.007 0.003 0.014 1 8 1 0.003 4 0 0 0 0 25.5 45808 chr3 9974809 9974809 G A rs76999397 IL17RC Synonymous SNV A512A 0.06 0.047 0.051 19 70 18 0.049 15 6 0 1 1 13.65 45809 chr8 8235523 8235523 G A rs55993234 PRAG1 Synonymous SNV Y132Y 0.049 0.055 0.078 23 58 21 0.059 23 2 1 0 0 0.196 45810 chr4 148560193 148560193 C T rs11557361 PRMT9 Nonsynonymous SNV C442Y 0.031 0.023 0.007 8 36 9 0.021 2 0 0 0 0 23.3 45811 chr8 82607148 82607148 C T rs75101336 SLC10A5 Synonymous SNV R20R 0.079 0.078 0.051 25 93 30 0.064 15 5 2 1 1 0.484 45812 chr4 40103767 40103767 G T rs17511668 N4BP2 Nonsynonymous SNV S101I 0.181 0.154 0.201 71 213 59 0.182 59 19 3 8 6 13.16 45813 chr8 82727569 82727569 T C rs16909651 SNX16 Synonymous SNV E195E 0.111 0.143 0.167 42 130 55 0.108 49 10 3 4 2 12.55 45814 chr4 7435797 7435797 G A rs34136551 PSAPL1 Synonymous SNV D270D 0.069 0.063 0.061 25 81 24 0.064 18 1 1 1 0 0.488 45815 chr4 40119501 40119501 T C rs1128372 N4BP2 Synonymous SNV H559H 0.181 0.154 0.201 71 213 59 0.182 59 19 3 8 6 0.938 45816 chr4 2747194 2747194 C T rs61734614 TNIP2 Synonymous SNV L105L 0.027 0.018 0.007 15 32 7 0.038 2 0 0 0 1 10.17 45817 chr4 40154465 40154465 G A rs113404449 N4BP2 Nonsynonymous SNV G1737R 0.064 0.081 0.034 26 75 31 0.067 10 3 1 1 1 34 45818 chr4 15005230 15005230 G A rs868441762 CPEB2 Synonymous SNV P311P 0.003 0 0 0 4 0 0 0 0 0 0 0 7.382 45819 chr17 7339495 7339515 TCCGTTCCCTTTTTTTAGGTC - rs537361079 TMEM102 G72_L73delinsV 0.02 0.029 0.01 8 23 11 0.021 3 0 0 1 0 45820 chr4 40337968 40337968 G A rs55974552 CHRNA9 Synonymous SNV T63T 0.045 0.036 0.017 14 53 14 0.036 5 3 0 0 0 12.47 45821 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQ 0.005 0.01 0 0 6 4 0 0 0 0 0 0 45822 chr8 87229702 87229702 A G rs4546639 SLC7A13 Synonymous SNV Y392Y 0.037 0.06 0.17 24 43 23 0.062 50 14 5 4 7 2.086 45823 chr4 40356041 40356041 C T rs55633891 CHRNA9 Nonsynonymous SNV A315V 0.112 0.102 0.099 48 131 39 0.123 29 9 2 2 5 24.7 45824 chr4 76811175 76811175 G T rs28436183 PPEF2 Nonsynonymous SNV R118S 0.125 0.096 0.085 33 147 37 0.085 25 8 3 2 1 27.6 45825 chr4 3429856 3429856 A G rs2269497 RGS12 Nonsynonymous SNV N476S 0.036 0.026 0.041 8 42 10 0.021 12 1 0 0 0 0.001 45826 chr16 57283730 57283730 G A rs7198865 ARL2BP Nonsynonymous SNV E87K 0.037 0.034 0.051 9 44 13 0.023 15 0 0 0 0 Likely benign 22.4 45827 chr8 8749124 8749124 T C rs780580102 MFHAS1 Nonsynonymous SNV E482G 0 0 0.007 0 0 0 0 2 0 0 0 0 10.56 45828 chr4 76881233 76881233 G T rs34627298 SDAD1 Nonsynonymous SNV A453D 0.131 0.122 0.092 58 154 47 0.149 27 10 3 1 7 11.03 45829 chr8 87591338 87591338 C T rs371424750 CNGB3 Nonsynonymous SNV A642T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 45830 chr8 87660100 87660100 T C rs13265557 CNGB3 Nonsynonymous SNV I307V 0.047 0.049 0.027 10 55 19 0.026 8 0 0 0 0 Benign 0.093 45831 chr4 2460546 2460546 G A rs36086854 CFAP99 Nonsynonymous SNV A420T 0.026 0.016 0.034 9 30 6 0.023 10 0 0 0 0 13.31 45832 chr4 77177415 77177415 C T rs61740422 FAM47E, FAM47E-STBD1 Synonymous SNV D53D 0.049 0.049 0.034 23 57 19 0.059 10 2 1 0 0 10.73 45833 chr4 154510085 154510085 C T rs147642995 TMEM131L Synonymous SNV T532T 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 4.573 45834 chr4 100503136 100503136 C G rs141736123 MTTP Nonsynonymous SNV R73G 0.024 0.034 0.017 11 28 13 0.028 5 0 0 0 0 Likely benign 18.22 45835 chr4 154525138 154525138 A G rs36023829 TMEM131L Nonsynonymous SNV T992A 0.021 0.021 0.014 8 25 8 0.021 4 0 0 0 0 0.001 45836 chr4 141323162 141323162 C A rs2567241 CLGN Nonsynonymous SNV A160S 0.013 0.021 0.044 14 15 8 0.036 13 3 1 1 2 13.49 45837 chr4 77255210 77255210 C T rs113022439 CCDC158 Synonymous SNV K925K 0.027 0.018 0.003 4 32 7 0.01 1 0 0 0 0 9.686 45838 chr8 92033502 92033502 T C rs34503257 PIP4P2 Synonymous SNV T79T 0.099 0.089 0.112 47 116 34 0.121 33 8 0 5 3 8.469 45839 chr4 187122355 187122355 T C rs3736456 CYP4V2 Synonymous SNV C282C 0.089 0.081 0.112 36 104 31 0.092 33 1 1 0 1 Benign 0.073 45840 chr8 92346523 92346523 A G rs16912250 SLC26A7 Nonsynonymous SNV I215V 0.045 0.044 0.041 26 53 17 0.067 12 2 0 0 1 10.04 45841 chr4 7728520 7728520 T C rs970882471 SORCS2 Nonsynonymous SNV L920P 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 25.1 45842 chr4 77305346 77305346 A G rs17001890 CCDC158 Synonymous SNV H207H 0.256 0.255 0.259 99 301 98 0.254 76 40 13 10 14 0.001 45843 chr4 41631718 41631718 C T rs28622470 LIMCH1 Nonsynonymous SNV T413M 0.079 0.083 0.085 30 93 32 0.077 25 2 4 2 0 14.1 45844 chr4 141386106 141386106 T C rs17005970 MGAT4D Synonymous SNV L210L 0.038 0.042 0.051 27 45 16 0.069 15 0 0 0 2 0.108 45845 chr4 154644542 154644542 G A rs115872046 RNF175 Nonsynonymous SNV A157V 0.018 0.008 0.003 5 21 3 0.013 1 0 0 0 0 3.732 45846 chr4 41633322 41633322 C A rs73135482 LIMCH1 Nonsynonymous SNV L477I 0.079 0.083 0.085 28 93 32 0.072 25 2 4 2 0 21.5 45847 chr8 94359032 94359032 A G rs12677732 LINC00535 0 0 0.276 0 0 0 0 81 0 0 11 0 10.53 45848 chr17 7533742 7533742 C T rs9282846 SHBG Synonymous SNV H40H 0.014 0.01 0.007 8 17 4 0.021 2 0 0 0 0 Benign 10.09 45849 chr8 95143138 95143138 A G rs2513797 CDH17 Synonymous SNV G750G 0.149 0.138 0.153 50 175 53 0.128 45 11 3 4 6 12.75 45850 chr4 41634777 41634777 G C rs4590080 LIMCH1 Nonsynonymous SNV C538S 0.077 0.089 0.071 34 90 34 0.087 21 2 4 1 0 3.678 45851 chr4 141789457 141789457 T A rs61744098 RNF150 Synonymous SNV V425V 0.072 0.078 0.088 40 85 30 0.103 26 3 0 0 0 11.77 45852 chr4 102946392 102946392 G A rs17853030 BANK1 Synonymous SNV R307R 0.066 0.052 0.071 37 77 20 0.095 21 2 1 1 2 3.359 45853 chr4 41635034 41635034 A G rs7657178 LIMCH1 Synonymous SNV T587T 0.086 0.091 0.085 39 101 35 0.1 25 3 4 2 1 0.079 45854 chr4 155219382 155219382 G C rs116029479 DCHS2 Synonymous SNV V2028V 0.054 0.063 0.061 16 63 24 0.041 18 8 1 1 0 9.371 45855 chr8 95186382 95186382 G A rs3214050 CDH17 Synonymous SNV V177V 0.547 0.544 0.517 195 642 209 0.5 152 181 57 42 49 8.57 45856 chr4 155219549 155219549 T G rs74321456 DCHS2 Nonsynonymous SNV T1973P 0.054 0.063 0.061 16 63 24 0.041 18 8 1 1 0 14.81 45857 chr4 145035851 145035851 C T rs149908820 GYPA Nonsynonymous SNV E130K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 27.3 45858 chr4 155241735 155241735 C T rs79535970 DCHS2 Nonsynonymous SNV A1606T 0.054 0.063 0.061 16 63 24 0.041 18 8 1 1 0 29.1 45859 chr8 95479680 95479680 G C rs28910279 RAD54B Nonsynonymous SNV L30V 0.034 0.034 0.034 9 40 13 0.023 10 0 1 0 0 0.004 45860 chr4 2664974 2664974 A G rs34782960 FAM193A Nonsynonymous SNV S389G 0.006 0.003 0.007 0 7 1 0 2 1 0 0 0 Benign 0.003 45861 chr4 147628674 147628674 C G TTC29 Nonsynonymous SNV V453L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.013 45862 chr17 7682605 7682605 C T rs17806045 DNAH2 Synonymous SNV I1862I 0.089 0.078 0.061 24 104 30 0.062 18 7 0 2 0 15.74 45863 chr4 2702115 2702115 A G rs17681870 FAM193A Nonsynonymous SNV I1115V 0.092 0.07 0.051 35 108 27 0.09 15 5 1 0 0 0.001 45864 chr4 7844953 7844953 G A rs28669852 AFAP1 Synonymous SNV D153D 0.093 0.115 0.044 38 109 44 0.097 13 4 3 1 2 11.17 45865 chr4 155244462 155244462 C T rs74430037 DCHS2 Synonymous SNV K1346K 0.054 0.063 0.061 16 63 24 0.041 18 8 1 1 0 0.872 45866 chr4 38776070 38776070 C T rs11466655 TLR10 Nonsynonymous SNV G381D 0.025 0.023 0.024 10 29 9 0.026 7 0 0 0 0 0.072 45867 chr8 95651239 95651239 T G rs7824334 LOC100288748 0 0 0.891 0 0 0 0 262 0 0 119 0 7.371 45868 chr8 95651303 95651303 G A rs12679585 LOC100288748 0 0 0.439 0 0 0 0 129 0 0 29 0 13.3 45869 chr8 95651573 95651573 C G rs13268847 LOC100288748 0 0 0.565 0 0 0 0 166 0 0 47 0 8.327 45870 chr4 2746583 2746583 C A rs116129895 TNIP2 Nonsynonymous SNV Q142H 0.006 0.003 0.007 0 7 1 0 2 1 0 0 0 24 45871 chr8 95651590 95651590 - T rs533400228 LOC100288748 0 0 0.327 0 0 0 0 96 0 0 18 0 45872 chr4 151161596 151161596 C T rs149449246 DCLK2 Synonymous SNV Y582Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.11 45873 chr16 58079165 58079165 G A rs3743563 MMP15 Nonsynonymous SNV G609R 0.119 0.109 0.16 52 140 42 0.133 47 5 3 8 4 21.1 45874 chr8 95651599 95651599 A C rs2162237 LOC100288748 0 0 0.327 0 0 0 0 96 0 0 18 0 8.335 45875 chr4 103964529 103964529 A C rs2276976 SLC9B2 Nonsynonymous SNV F300C 0.165 0.109 0.126 53 194 42 0.136 37 13 3 1 3 24.1 45876 chr4 2757800 2757800 G C rs74548850 TNIP2 Nonsynonymous SNV R73G 0.072 0.057 0.003 31 84 22 0.079 1 4 1 0 0 24.9 45877 chr17 7846836 7846836 A T rs78236778 CNTROB Nonsynonymous SNV H480L 0.033 0.052 0.034 11 39 20 0.028 10 0 0 0 0 21.8 45878 chr4 42629038 42629038 C T rs16854624 ATP8A1 Synonymous SNV L46L 0.101 0.115 0.105 28 119 44 0.072 31 4 4 1 1 15.11 45879 chr8 96313407 96313407 C G rs1994793 C8orf37-AS1 0 0 0.626 0 0 0 0 184 0 0 49 0 5.492 45880 chr8 96812830 96812830 C G rs980822405 C8orf37-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.714 45881 chr8 97384315 97384315 A T rs2319815 LOC102724804 0 0 0.435 0 0 0 0 128 0 0 31 0 3.876 45882 chr8 97384408 97384408 C T rs2244423 LOC102724804 0 0 0.592 0 0 0 0 174 0 0 54 0 6.504 45883 chr16 58550484 58550484 G A rs3743567 SETD6 Synonymous SNV L193L 0.069 0.083 0.095 35 81 32 0.09 28 2 1 3 1 3.388 45884 chr8 97398724 97398724 T C rs62516307 LOC102724804 0 0 0.112 0 0 0 0 33 0 0 2 0 5.577 45885 chr4 79343111 79343111 G A rs78575519 FRAS1 Synonymous SNV P1545P 0.183 0.125 0.184 73 215 48 0.187 54 17 1 3 4 Benign/Likely benign 7.377 45886 chr8 97398842 97398842 T A rs12541366 LOC102724804 0 0 0.313 0 0 0 0 92 0 0 20 0 6.549 45887 chr4 436067 436067 C A rs61793704 ZNF721 Nonsynonymous SNV R730L 0.031 0.039 0.051 9 36 15 0.023 15 0 1 1 0 20.3 45888 chr4 3037213 3037213 T C rs34022679 GRK4 Nonsynonymous SNV L263P 0.016 0.026 0.024 8 19 10 0.021 7 0 0 0 0 29.5 45889 chr8 97614625 97614625 G A rs3816208 SDC2 Nonsynonymous SNV A59T 0.048 0.065 0.061 24 56 25 0.062 18 2 2 1 3 22.9 45890 chr4 79371474 79371474 C T rs17003235 FRAS1 Synonymous SNV T2148T 0.157 0.115 0.163 66 184 44 0.169 48 12 1 1 2 Benign 12.11 45891 chr4 38924430 38924430 G T rs367852842 FAM114A1 Stop gain E122X 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 47 45892 chr17 7909773 7909773 G A rs56034424 GUCY2D Synonymous SNV V373V 0.034 0.052 0.048 11 40 20 0.028 14 0 0 0 0 Benign 11.22 45893 chr4 3076603 3076603 - CAGCAGCAG HTT Q38_P39insQQQ 0.015 0.016 0 8 18 6 0.021 0 2 0 0 0 45894 chr4 44652030 44652030 C T rs2348353 YIPF7 Nonsynonymous SNV A54T 0.074 0.073 0.088 31 87 28 0.079 26 2 2 1 0 7.593 45895 chr4 2044162 2044162 G A C4orf48 Synonymous SNV L28L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.631 45896 chr4 79403682 79403682 C T rs41327848 FRAS1 Synonymous SNV F2915F 0.165 0.115 0.16 62 194 44 0.159 47 11 0 1 2 Benign 15.21 45897 chr8 99168383 99168383 T C rs16896695 POP1 Synonymous SNV A721A 0.076 0.068 0.085 40 89 26 0.103 25 3 2 2 1 0.127 45898 chr4 3225848 3225848 G A rs779366537 HTT Synonymous SNV P2585P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.975 45899 chr9 100049970 100049970 G C rs2493444 SUGT1P4-STRA6LP, SUGT1P4-STRA6LP-CCDC180 0 0 0.303 0 0 0 0 89 0 0 14 0 4.604 45900 chr4 10447907 10447907 C T rs72648876 ZNF518B Nonsynonymous SNV G16R 0.029 0.036 0.02 9 34 14 0.023 6 0 0 0 1 6.9 45901 chr9 100049972 100049972 A C rs2487874 SUGT1P4-STRA6LP, SUGT1P4-STRA6LP-CCDC180 0 0 0.303 0 0 0 0 89 0 0 14 0 4.418 45902 chr17 8047081 8047081 G A rs112980285 PER1 Nonsynonymous SNV P859S 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 12.86 45903 chr4 106196770 106196770 G A rs62623390 TET2 Nonsynonymous SNV M1701I 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 0 Benign 13.17 45904 chr4 39114811 39114811 C T rs768281391 KLHL5 Synonymous SNV P605P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.11 45905 chr4 79421011 79421011 G T rs11933630 FRAS1 Synonymous SNV R3084R 0.16 0.102 0.143 60 188 39 0.154 42 11 0 1 2 Benign 8.663 45906 chr4 79434685 79434685 T G rs35933858 FRAS1 Nonsynonymous SNV Y3385D 0.158 0.102 0.143 60 186 39 0.154 42 11 0 1 2 Benign 12.08 45907 chr16 66997410 66997410 G A CES3 Nonsynonymous SNV E102K 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 4.942 45908 chr4 79443837 79443837 A T rs931605 FRAS1 Nonsynonymous SNV E3561D 0.158 0.102 0.143 60 186 39 0.154 42 11 0 1 2 Benign 0.018 45909 chr9 100201551 100201551 A G rs7853578 TDRD7 Synonymous SNV Q122Q 0.019 0.021 0.034 5 22 8 0.013 10 0 0 0 0 Benign 8.119 45910 chr9 100234756 100234756 G A rs41281938 TDRD7 Synonymous SNV K567K 0.02 0.021 0.027 5 23 8 0.013 8 0 0 0 0 Benign 12.76 45911 chr9 100388119 100388119 G T rs10817858 TSTD2 Nonsynonymous SNV A109D 0.221 0.169 0.17 68 259 65 0.174 50 20 7 5 7 8.319 45912 chr4 154669887 154669887 G A rs147318567 RNF175 Synonymous SNV H52H 0.016 0.021 0.007 8 19 8 0.021 2 0 0 0 0 11.08 45913 chr4 15964670 15964670 C T rs35496730 FGFBP2 Nonsynonymous SNV S28N 0.146 0.125 0.122 55 171 48 0.141 36 11 3 2 5 0.005 45914 chr4 22444335 22444335 G A rs35762546 ADGRA3 Synonymous SNV T286T 0.037 0.021 0.037 7 43 8 0.018 11 1 0 0 0 12.84 45915 chr9 100616701 100616706 GCCGCC - rs71369530 FOXE1 A178_A179del 0.271 0.156 0.486 89 318 60 0.228 143 134 25 44 35 45916 chr16 68025998 68025998 A C rs144339907 DPEP2 Stop gain Y5X 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 33 45917 chr9 100971348 100971348 T C rs3739666 TBC1D2 Synonymous SNV A124A 0.567 0.578 0.592 234 666 222 0.6 174 193 66 52 66 0.015 45918 chr4 107181616 107181616 C T rs115723993 TBCK Nonsynonymous SNV D145N 0.037 0.031 0.034 16 43 12 0.041 10 1 0 0 2 22.3 45919 chr9 100995721 100995721 A G rs879369 TBC1D2 Nonsynonymous SNV L253S 0.359 0.328 0.374 144 421 126 0.369 110 78 18 23 22 0.001 45920 chr4 48165757 48165757 G A rs16861083 TEC Synonymous SNV Y233Y 0.055 0.076 0.034 17 64 29 0.044 10 1 1 0 0 10.48 45921 chr4 107279518 107279518 T C rs75431821 GIMD1 Nonsynonymous SNV E159G 0.078 0.091 0.078 34 91 35 0.087 23 3 0 1 2 11.45 45922 chr9 100995758 100995758 G T rs879368 TBC1D2 Nonsynonymous SNV P241T 0.266 0.25 0.265 114 312 96 0.292 78 40 9 13 13 9.108 45923 chr4 37445587 37445587 T C rs78505176 NWD2 Synonymous SNV S659S 0.072 0.063 0.054 26 84 24 0.067 16 2 2 0 1 0.027 45924 chr9 101340301 101340301 A C rs2808536 GABBR2 Synonymous SNV P125P 0.747 0.753 0.752 293 877 289 0.751 221 318 109 81 107 1.132 45925 chr4 37445941 37445941 T C rs139020189 NWD2 Synonymous SNV L777L 0.03 0.021 0.02 10 35 8 0.026 6 0 0 0 0 0.001 45926 chr9 101558444 101558444 G A rs76903503 ANKS6 Synonymous SNV Y110Y 0.082 0.096 0.126 30 96 37 0.077 37 8 2 2 1 Benign 11.53 45927 chr4 37446874 37446874 C T rs76049455 NWD2 Synonymous SNV Y1088Y 0.072 0.063 0.054 26 84 24 0.067 16 2 2 0 1 6.878 45928 chr9 101558609 101558609 G A rs138948716 ANKS6 Synonymous SNV A55A 0.224 0.188 0.276 83 263 72 0.213 81 72 19 14 21 Benign 9.014 45929 chr4 164393117 164393117 T A rs11735477 TKTL2 Nonsynonymous SNV Q590H 0.154 0.12 0.16 48 181 46 0.123 47 15 4 1 4 0.906 45930 chr4 37447621 37447621 C T rs141690387 NWD2 Synonymous SNV S1337S 0.03 0.021 0.017 10 35 8 0.026 5 0 0 0 0 3.743 45931 chr9 101980367 101980367 A G rs35626507 ALG2 Nonsynonymous SNV V367A 0.083 0.083 0.075 40 97 32 0.103 22 5 1 1 1 Benign 6.111 45932 chr4 24836619 24836619 C T rs16876194 CCDC149 Synonymous SNV Q257Q 0.089 0.081 0.105 31 104 31 0.079 31 5 2 2 2 12.86 45933 chr4 37448299 37448299 C T rs17422084 NWD2 Synonymous SNV A1563A 0.072 0.063 0.054 26 84 24 0.067 16 2 2 0 1 11.32 45934 chr9 101984146 101984146 A G rs11545137 ALG2 Nonsynonymous SNV S11P 0.079 0.081 0.075 39 93 31 0.1 22 5 1 1 1 Benign 0.002 45935 chr9 103054941 103054941 G A rs76868679 INVS Nonsynonymous SNV G475E 0.057 0.042 0.048 24 67 16 0.062 14 3 0 0 0 Benign/Likely benign 13.42 45936 chr4 8229140 8229140 G T rs141562329 SH3TC1 Nonsynonymous SNV R497S 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 20.2 45937 chr4 37904089 37904089 C T rs35859249 TBC1D1 Nonsynonymous SNV R125W 0.075 0.068 0.075 32 88 26 0.082 22 3 0 0 2 26.2 45938 chr4 41622458 41622458 A T rs377584742 LIMCH1 Nonsynonymous SNV E159V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.9 45939 chr4 38138856 38138856 G A rs13110318 TBC1D1 Nonsynonymous SNV R148Q 0.061 0.076 0.085 32 72 29 0.082 25 0 1 0 0 24.1 45940 chr17 8644974 8644974 G A rs146567497 CCDC42 Nonsynonymous SNV R104W 0.012 0.013 0.007 5 14 5 0.013 2 0 0 0 0 33 45941 chr9 105405415 105405415 G A rs10820216 LINC00587 0 0 0.255 0 0 0 0 75 0 0 9 0 2.078 45942 chr17 8658859 8658859 C T rs201318763 SPDYE4 Nonsynonymous SNV R155H 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 17.55 45943 chr17 8700719 8700719 C T rs78093130 MFSD6L Nonsynonymous SNV D574N 0.027 0.036 0.007 19 32 14 0.049 2 2 0 0 1 32 45944 chr4 38774957 38774957 T C rs149895872 TLR10 Nonsynonymous SNV K752R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Likely benign 0.45 45945 chr4 83763393 83763393 G A rs113126252 SEC31A Synonymous SNV G917G 0.011 0.013 0.014 7 13 5 0.018 4 0 0 0 0 12.35 45946 chr4 55593464 55593464 A C rs3822214 KIT Nonsynonymous SNV M541L 0.098 0.094 0.088 43 115 36 0.11 26 5 0 3 0 Benign/Likely benign 4.498 45947 chr16 68835754 68835754 G A rs1801023 CDH1 Synonymous SNV T115T 0.021 0.026 0.017 4 25 10 0.01 5 0 0 0 0 Benign/Likely benign 12.62 45948 chr16 68845646 68845646 G A rs142822590 CDH1 Nonsynonymous SNV A298T 0.013 0.01 0 3 15 4 0.008 0 0 0 0 0 Benign 32 45949 chr4 83776078 83776078 C T rs35581775 SEC31A Synonymous SNV P623P 0.02 0.026 0.02 9 24 10 0.023 6 0 0 0 0 10.02 45950 chr4 110791453 110791453 T C rs9994891 LRIT3 Synonymous SNV T516T 0.031 0.034 0.027 7 36 13 0.018 8 0 0 1 0 Benign 0.021 45951 chr4 55602765 55602765 G C rs3733542 KIT Synonymous SNV L862L 0.119 0.112 0.099 47 140 43 0.121 29 5 0 3 0 Benign/Likely benign 8.597 45952 chr4 38775639 38775639 G A rs11466658 TLR10 Nonsynonymous SNV R525W 0.04 0.036 0.044 17 47 14 0.044 13 0 0 0 0 14.41 45953 chr4 169197297 169197297 C T rs550625 DDX60 Nonsynonymous SNV V672M 0.025 0.034 0.048 16 29 13 0.041 14 0 0 0 0 8.206 45954 chr17 8701244 8701244 C T rs138080986 MFSD6L Nonsynonymous SNV G399S 0.018 0.036 0.003 7 21 14 0.018 1 1 0 0 0 0.031 45955 chr4 38775706 38775706 G A rs41305286 TLR10 Synonymous SNV S502S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 5.651 45956 chr4 169208334 169208334 C T rs72693161 DDX60 Nonsynonymous SNV D402N 0.014 0.018 0.037 10 16 7 0.026 11 0 0 0 0 6.861 45957 chr17 8701315 8701315 G A rs111767864 MFSD6L Nonsynonymous SNV T375I 0.018 0.036 0.003 7 21 14 0.018 1 1 0 0 0 4.833 45958 chr4 38776303 38776303 T C rs11466652 TLR10 Synonymous SNV K303K 0.168 0.198 0.16 71 197 76 0.182 47 12 11 4 4 1.013 45959 chr17 8701716 8701716 C T rs147486600 MFSD6L Synonymous SNV A241A 0.015 0.023 0.003 6 18 9 0.015 1 0 0 0 0 11.18 45960 chr4 8398798 8398798 G A rs142177374 ACOX3 Nonsynonymous SNV R308W 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 27.1 45961 chr17 8701814 8701814 C T rs144238966 MFSD6L Nonsynonymous SNV A209T 0.015 0.023 0.003 6 18 9 0.015 1 0 0 0 0 3.486 45962 chr4 83996469 83996469 G A rs113267477 COPS4 Nonsynonymous SNV R341H 0.02 0.026 0.02 9 24 10 0.023 6 0 0 0 0 12.06 45963 chr4 38777173 38777173 A T rs10856838 TLR10 Synonymous SNV I13I 0.212 0.24 0.228 90 249 92 0.231 67 27 15 7 12 0.014 45964 chr4 436612 436612 C G rs372077269 ZNF721 Nonsynonymous SNV R548S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.1 45965 chr17 9408381 9408381 C T rs138337481 STX8 Nonsynonymous SNV R141Q 0.018 0.026 0.024 10 21 10 0.026 7 1 0 0 0 23.8 45966 chr4 44176960 44176960 T C rs13143747 KCTD8 Synonymous SNV T423T 0.151 0.172 0.092 71 177 66 0.182 27 15 2 2 8 0.009 45967 chr4 57182462 57182462 G T CRACD Nonsynonymous SNV A932S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.1 45968 chr16 69963403 69963403 G A rs1875245 WWP2 Synonymous SNV T313T 0.044 0.039 0.041 24 52 15 0.062 12 1 0 0 0 14.63 45969 chr4 38830331 38830331 G A rs5743811 TLR6 Nonsynonymous SNV T255I 0.013 0.01 0 6 15 4 0.015 0 0 0 0 0 11.79 45970 chr4 46314593 46314593 T C rs279858 GABRA2 Synonymous SNV K132K 0.317 0.401 0.371 113 372 154 0.29 109 63 31 20 15 0.738 45971 chr9 107586753 107586753 T C rs2066714 ABCA1 Nonsynonymous SNV I883M 0.159 0.159 0.122 65 187 61 0.167 36 5 6 4 5 Benign 0.094 45972 chr4 113353321 113353321 G T rs34946272 ALPK1 Nonsynonymous SNV R795I 0.005 0.005 0.017 1 6 2 0.003 5 0 0 0 0 Benign 22.1 45973 chr9 107588033 107588033 C T rs2066715 ABCA1 Nonsynonymous SNV V825I 0.04 0.031 0.031 15 47 12 0.038 9 0 0 0 1 Benign 6.628 45974 chr4 843720 843720 T C rs2306242 GAK Nonsynonymous SNV K1186R 0.044 0.036 0.061 28 52 14 0.072 18 0 0 1 2 21.3 45975 chr9 107591272 107591272 G T rs2853579 ABCA1 Synonymous SNV I680I 0.149 0.146 0.116 61 175 56 0.156 34 5 6 3 4 Benign 9.905 45976 chr4 3231661 3231661 G A rs2276881 HTT Synonymous SNV L2719L 0.072 0.094 0.075 28 85 36 0.072 22 1 0 1 1 11.8 45977 chr4 57314612 57314612 C G rs138933625 PAICS Nonsynonymous SNV S141C 0.074 0.047 0.065 29 87 18 0.074 19 2 0 0 1 25.1 45978 chr4 170037572 170037572 G A rs3811813 SH3RF1 Nonsynonymous SNV P663S 0.055 0.052 0.092 36 65 20 0.092 27 3 2 2 1 0.068 45979 chr4 3319553 3319553 C T rs2281470 RGS12 Synonymous SNV S552S 0.067 0.073 0.068 29 79 28 0.074 20 1 0 1 1 13.18 45980 chr4 3418714 3418714 G A rs60154162 RGS12 Synonymous SNV A186A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 11.18 45981 chr4 170398454 170398454 T C rs34099167 NEK1 Nonsynonymous SNV E655G 0.106 0.096 0.129 39 124 37 0.1 38 7 1 1 3 Benign 22.7 45982 chr4 39303925 39303925 A G rs2066782 RFC1 Synonymous SNV S810S 0.106 0.115 0.122 30 125 44 0.077 36 9 1 2 1 9.281 45983 chr4 170477125 170477125 G A rs34540355 NEK1 Nonsynonymous SNV A438V 0.037 0.044 0.041 15 43 17 0.038 12 0 0 0 2 Benign/Likely benign 14.29 45984 chr4 85530633 85530633 G T rs36068434 CDS1 Nonsynonymous SNV L99F 0.036 0.029 0.027 24 42 11 0.062 8 0 0 0 1 10.7 45985 chr4 114276090 114276090 A G rs1004588860 ANK2 Nonsynonymous SNV R2106G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.018 45986 chr4 85708792 85708792 G A rs34548715 WDFY3 Synonymous SNV Y1248Y 0.034 0.026 0.027 22 40 10 0.056 8 0 0 0 1 5.826 45987 chr4 40138676 40138676 A G rs2271395 N4BP2 Nonsynonymous SNV T1587A 0.071 0.078 0.075 37 83 30 0.095 22 2 1 0 3 12.52 45988 chr9 110250186 110250186 C A rs34651589 KLF4 Synonymous SNV A163A 0.019 0.013 0.014 8 22 5 0.021 4 0 0 0 0 17.17 45989 chr4 8594572 8594572 G C rs76756393 CPZ Synonymous SNV P4P 0.134 0.109 0.099 41 157 42 0.105 29 15 2 1 1 8.697 45990 chr9 111882167 111882167 G C rs12001627 TMEM245 Nonsynonymous SNV D9E 0.257 0.292 0.384 103 302 112 0.264 113 79 38 28 30 0.032 45991 chr4 40428056 40428056 T G rs149047307 RBM47 Synonymous SNV T480T 0.009 0.008 0.003 7 11 3 0.018 1 0 0 0 1 5.326 45992 chr4 47939552 47939552 G A rs62625014 CNGA1 Nonsynonymous SNV S389F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 23.7 45993 chr4 17513582 17513582 G A rs2518608 QDPR Synonymous SNV A32A 0.022 0.016 0.014 4 26 6 0.01 4 0 0 0 0 Benign 12.91 45994 chr9 112166845 112166845 G A rs34302609 PTPN3 Synonymous SNV N280N 0.029 0.044 0.037 7 34 17 0.018 11 0 0 0 0 9.396 45995 chr9 112811016 112811033 CCCCCGGAGTCTCCTGGA - rs879255366 PALM2-AKAP2 S22_E27del 0.052 0.026 0.02 15 61 10 0.038 6 5 0 1 2 45996 chr4 175180938 175180938 T C rs61748174 FBXO8 Nonsynonymous SNV N123S 0.017 0.013 0.007 5 20 5 0.013 2 0 0 0 0 Benign 11.26 45997 chr4 48082095 48082095 C T rs11724347 TXK Nonsynonymous SNV R336Q 0.076 0.109 0.092 34 89 42 0.087 27 2 5 2 3 6.073 45998 chr9 112899365 112899365 A C rs199648303 PALM2AKAP2 Nonsynonymous SNV Q372P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.7 45999 chr9 112900341 112900341 - GAAGCT rs150402481 PALM2AKAP2 A701_A702insEA 0.155 0.125 0.126 55 182 48 0.141 37 18 3 2 3 46000 chr9 112900785 112900785 A G rs3739456 PALM2AKAP2 Synonymous SNV S845S 0.218 0.185 0.197 80 256 71 0.205 58 31 7 5 11 0.179 46001 chr4 48493237 48493237 G A rs79858408 ZAR1 Nonsynonymous SNV S310N 0.183 0.138 0.109 70 215 53 0.179 32 94 23 15 33 5.207 46002 chr9 113173587 113173587 G C rs201520602 SVEP1 Nonsynonymous SNV S2135C 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 26.2 46003 chr4 87690998 87690998 A G rs2230600 PTPN13 Nonsynonymous SNV I1331M 0.15 0.19 0.16 53 176 73 0.136 47 20 6 3 6 13.17 46004 chr9 113196733 113196733 A C rs7852962 SVEP1 Nonsynonymous SNV L1648V 0.149 0.167 0.139 59 175 64 0.151 41 12 5 3 4 3.88 46005 chr4 4861974 4861974 C T rs34165410 MSX1 Synonymous SNV G116G 0.065 0.047 0.044 13 76 18 0.033 13 4 0 1 0 14.31 46006 chr9 113208250 113208250 T G rs7863519 SVEP1 Nonsynonymous SNV M1444L 0.206 0.211 0.19 71 242 81 0.182 56 23 7 6 7 0.201 46007 chr9 113221247 113221247 T C rs7038903 SVEP1 Nonsynonymous SNV I1157V 0.149 0.167 0.139 59 175 64 0.151 41 12 5 3 4 23.1 46008 chr4 167656222 167656222 G A rs143568587 SPOCK3 Synonymous SNV S289S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 9.928 46009 chr4 167713331 167713331 A G rs72984042 SPOCK3 Synonymous SNV P138P 0.01 0.016 0.01 4 12 6 0.01 3 0 0 0 0 2.066 46010 chr9 113312231 113312231 G C rs61751937 SVEP1 Nonsynonymous SNV R229G 0.032 0.031 0.044 12 38 12 0.031 13 0 1 0 0 28.3 46011 chr4 88344154 88344154 C A rs146952902 NUDT9 Nonsynonymous SNV Q33K 0.009 0.013 0.017 10 10 5 0.026 5 0 0 0 0 0.647 46012 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAG MYH3 Stop gain G203Sfs*23 0.012 0.013 0 6 14 5 0.015 0 0 0 0 0 46013 chr9 113637854 113637854 G A rs3739709 LPAR1 Synonymous SNV R314R 0.178 0.18 0.143 77 209 69 0.197 42 17 4 3 8 10.93 46014 chr4 44680646 44680646 A G GUF1 Nonsynonymous SNV T3A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.004 46015 chr4 39463903 39463903 C A rs61731032 LIAS Synonymous SNV L102L 0.084 0.091 0.078 31 99 35 0.079 23 7 3 1 3 Benign 16.7 46016 chr4 88537468 88537470 CAG - rs759543504 DSPP S1220del 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 46017 chr4 47408838 47408838 C T rs6290 GABRB1 Synonymous SNV A325A 0.095 0.065 0.078 32 112 25 0.082 23 8 0 2 1 14.99 46018 chr4 8872977 8872977 C T rs61745347 HMX1 Nonsynonymous SNV G122S 0.066 0.049 0.048 33 77 19 0.085 14 5 0 0 1 Benign 24.7 46019 chr4 52938245 52938245 C T rs79258516 SPATA18 Synonymous SNV S2S 0.023 0.021 0.01 6 27 8 0.015 3 1 0 0 1 13.19 46020 chr4 533124 533124 C T rs764734046 PIGG Nonsynonymous SNV T840M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 23.4 46021 chr4 5333091 5333091 G A rs16837029 STK32B Synonymous SNV E135E 0.036 0.057 0.034 15 42 22 0.038 10 0 0 1 0 1.39 46022 chr9 114484837 114484837 G T rs62569959 SHOC1 Synonymous SNV L558L 0.099 0.073 0.095 26 116 28 0.067 28 5 2 2 1 0.097 46023 chr4 6642641 6642641 C T rs115295191 MRFAP1 Synonymous SNV L18L 0.013 0.008 0.027 8 15 3 0.021 8 0 0 0 0 15.97 46024 chr16 75203906 75203906 G A rs143782883 ZFP1 Nonsynonymous SNV E267K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 25 46025 chr4 54011603 54011603 C T rs17082453 SCFD2 Synonymous SNV T486T 0.077 0.073 0.051 31 90 28 0.079 15 1 2 0 1 9.882 46026 chr4 89061114 89061114 C T rs2231137 ABCG2 Nonsynonymous SNV V12M 0.083 0.063 0.099 36 97 24 0.092 29 4 0 0 0 Affects, association 0.036 46027 chr9 115931692 115931692 A G rs3810909 FKBP15 Synonymous SNV T1099T 0.189 0.19 0.214 83 222 73 0.213 63 27 8 3 5 0.877 46028 chr9 115931703 115931703 G A rs3810910 FKBP15 Synonymous SNV L1096L 0.344 0.349 0.33 135 404 134 0.346 97 63 25 18 23 1.807 46029 chr4 47938879 47938879 G A rs17573673 CNGA1 Synonymous SNV F613F 0.087 0.099 0.071 32 102 38 0.082 21 3 3 1 2 Likely benign 5.868 46030 chr9 115931866 115931866 C T rs199865980 FKBP15 Synonymous SNV P1041P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 46031 chr4 89391771 89391771 C T rs55990584 HERC5 Synonymous SNV I415I 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 15.04 46032 chr4 89397091 89397091 A G rs7699006 HERC5 Nonsynonymous SNV M498V 0.29 0.26 0.296 96 341 100 0.246 87 53 15 12 11 0.025 46033 chr4 68619601 68619601 G A rs4986942 GNRHR Synonymous SNV S151S 0.077 0.068 0.044 22 90 26 0.056 13 1 0 1 0 Benign/Likely benign 0.109 46034 chr9 115968797 115968797 C T rs1133618 FKBP15 Nonsynonymous SNV A106T 0.21 0.221 0.207 87 246 85 0.223 61 29 12 7 10 14.62 46035 chr17 15234449 15234449 C G TEKT3 Nonsynonymous SNV D152H 0 0 0 0 0 0 0 0 0 0 0 0 27.1 46036 chr4 5642274 5642274 T C rs13131655 EVC2 Synonymous SNV E399E 0.313 0.31 0.286 99 368 119 0.254 84 57 20 16 14 Benign 3.893 46037 chr4 174239704 174239704 C T rs34885736 GALNT7 Synonymous SNV Y610Y 0.017 0.01 0.024 10 20 4 0.026 7 0 0 0 0 11.98 46038 chr9 116187302 116187302 C G rs111748634 C9orf43 Nonsynonymous SNV P271A 0.044 0.036 0.065 20 52 14 0.051 19 1 3 2 0 22.6 46039 chr4 185012402 185012402 G A rs142602934 ENPP6 Synonymous SNV R417R 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 5.931 46040 chr9 116191205 116191205 A C rs111841972 C9orf43 Nonsynonymous SNV N378T 0.044 0.036 0.065 20 52 14 0.051 19 1 3 2 0 0.183 46041 chr17 15938257 15938257 T C rs146272624 NCOR1 Synonymous SNV G2216G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.09 46042 chr4 175238508 175238508 C T rs17358230 CEP44 Synonymous SNV L383L 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 13.9 46043 chr4 4436517 4436517 A T rs33952588 STX18 Stop gain Y245X 0.041 0.034 0.044 14 48 13 0.036 13 0 1 0 0 19.33 46044 chr4 126402890 126402890 G A rs6824160 FAT4 Synonymous SNV V4273V 0.131 0.133 0.109 30 154 51 0.077 32 11 7 5 0 Benign 13.78 46045 chr4 4440183 4440183 T G rs61740788 STX18 Nonsynonymous SNV E103A 0.045 0.049 0.048 16 53 19 0.041 14 0 1 0 0 18.83 46046 chr9 116856481 116856481 C A rs35719524 KIF12 Nonsynonymous SNV M293I 0.174 0.143 0.184 60 204 55 0.154 54 18 7 6 2 23.6 46047 chr4 57181663 57181663 C T CRACD Synonymous SNV L665L 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 11.18 46048 chr4 95173779 95173779 T C rs7439869 SMARCAD1 Nonsynonymous SNV V301A 0.452 0.419 0.323 183 531 161 0.469 95 169 48 34 52 0.002 46049 chr4 176573028 176573028 T C rs72702639 GPM6A Synonymous SNV T131T 0.052 0.036 0.044 17 61 14 0.044 13 1 1 0 0 1.026 46050 chr4 57204777 57204777 A C rs8340 AASDH Nonsynonymous SNV Y545D 0.115 0.122 0.112 39 135 47 0.1 33 6 3 1 2 0.663 46051 chr17 17068358 17068358 G C rs541926179 MPRIP Nonsynonymous SNV R1183S 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 7.526 46052 chr4 55972974 55972974 T A rs1870377 KDR Nonsynonymous SNV Q472H 0.234 0.214 0.241 85 275 82 0.218 71 39 4 8 8 not provided 0.421 46053 chr4 47455086 47455086 G A rs149829832 COMMD8 Nonsynonymous SNV A172V 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 29.5 46054 chr16 78148935 78148935 C T rs144601717 WWOX Nonsynonymous SNV P98L 0.035 0.036 0.02 27 41 14 0.069 6 3 1 0 1 Benign 20.4 46055 chr17 17124815 17124815 C T rs3744124 FLCN Nonsynonymous SNV G303R 0.05 0.073 0.044 15 59 28 0.038 13 1 2 1 0 Benign 2.469 46056 chr4 57211352 57211352 T C rs12498340 AASDH Nonsynonymous SNV T380A 0.114 0.122 0.112 39 134 47 0.1 33 6 3 1 2 11.99 46057 chr4 177106010 177106013 TCTC - rs28381989 SPATA4 R279Kfs*4 0.075 0.102 0.085 27 88 39 0.069 25 2 0 1 1 46058 chr9 117071744 117071744 A G rs3736252 COL27A1 Nonsynonymous SNV M1808V 0.03 0.026 0.034 8 35 10 0.021 10 0 0 0 0 0.204 46059 chr4 57219613 57219613 C T rs17086696 AASDH Synonymous SNV P26P 0.112 0.122 0.112 39 132 47 0.1 33 6 3 1 2 15.03 46060 chr4 71201943 71201943 A G rs13039 CABS1 Synonymous SNV X396X 0.208 0.232 0.241 81 244 89 0.208 71 28 12 9 5 10.93 46061 chr4 57333822 57333822 G T rs12513091 SRP72 Synonymous SNV G7G 0.181 0.193 0.16 64 212 74 0.164 47 18 8 2 5 Benign 8.252 46062 chr4 961397 961397 C T rs2305487 DGKQ Synonymous SNV V309V 0.066 0.039 0.075 35 78 15 0.09 22 1 0 1 2 7.435 46063 chr4 96171681 96171681 A G rs34875919 UNC5C Synonymous SNV I244I 0.06 0.076 0.041 26 71 29 0.067 12 0 1 0 0 8.396 46064 chr4 71347333 71347333 C T rs72655156 MUC7 Nonsynonymous SNV T291I 0.022 0.026 0.014 8 26 10 0.021 4 0 0 0 0 17.49 46065 chr4 5755516 5755516 T A rs60582583 EVC Nonsynonymous SNV F440L 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Benign 13.12 46066 chr4 71472164 71472164 T C rs72654387 AMBN Nonsynonymous SNV L354P 0.042 0.044 0.061 17 49 17 0.044 18 0 0 1 1 23.5 46067 chr4 53731744 53731744 G T rs776746369 RASL11B Nonsynonymous SNV M173I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.41 46068 chr4 1346903 1346903 G A rs77892061 UVSSA Synonymous SNV P212P 0.052 0.07 0.044 24 61 27 0.062 13 1 1 1 0 6.049 46069 chr4 178359970 178359970 A C rs146381591 AGA Nonsynonymous SNV L146V 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 46070 chr4 178363496 178363496 C A rs74626221 AGA Nonsynonymous SNV V12L 0.029 0.036 0.031 9 34 14 0.023 9 0 0 0 0 Likely benign 4.643 46071 chr4 73942678 73942678 C T rs2306058 ANKRD17 Synonymous SNV T2326T 0.216 0.159 0.156 73 253 61 0.187 46 34 7 4 5 association 16.34 46072 chr4 5991197 5991197 C T rs114811547 C4orf50 Nonsynonymous SNV G680E 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 22.5 46073 chr4 1801487 1801487 G A rs55662109 FGFR3 Synonymous SNV S131S 0.011 0.01 0.01 1 13 4 0.003 3 0 0 0 0 Benign/Likely benign 8.75 46074 chr4 1824020 1824020 C T rs28681468 LETM1 Nonsynonymous SNV R499H 0.03 0.044 0.041 13 35 17 0.033 12 1 0 0 0 16.71 46075 chr4 57829649 57829649 G A rs61747378 NOA1 Synonymous SNV N688N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.763 46076 chr9 118054178 118054178 T A rs2285315 DEC1 0 0 0.109 0 0 0 0 32 0 0 3 0 9.422 46077 chr9 118054182 118054182 G A rs2285316 DEC1 0 0 0.517 0 0 0 0 152 0 0 33 0 5.639 46078 chr5 101575091 101575091 C T rs62370437 SLCO4C1 Synonymous SNV G626G 0.401 0.417 0.412 184 471 160 0.472 121 90 34 32 46 12.66 46079 chr4 187178473 187178473 G A rs4253325 KLKB1 Nonsynonymous SNV R560Q 0.064 0.068 0.133 28 75 26 0.072 39 4 2 3 2 16.5 46080 chr4 7436486 7436486 C A rs11548325 PSAPL1 Nonsynonymous SNV A41S 0.135 0.117 0.167 63 159 45 0.162 49 12 2 2 6 0.018 46081 chr4 183713573 183713573 C T rs80197208 TENM3 Synonymous SNV N1916N 0.031 0.034 0.014 16 36 13 0.041 4 1 0 0 0 8.593 46082 chr5 101724472 101724472 C T rs72779942 SLCO6A1 Nonsynonymous SNV R393Q 0.02 0.01 0.027 8 24 4 0.021 8 0 0 0 0 22.8 46083 chr4 56310908 56310908 G A rs34812164 CLOCK Synonymous SNV D528D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Likely benign 7.701 46084 chr9 119739015 119739015 G A rs10983437 ASTN2 Synonymous SNV H496H 0.083 0.076 0.082 36 98 29 0.092 24 5 1 2 3 9.757 46085 chr4 56315645 56315645 G A rs578243815 CLOCK Nonsynonymous SNV P456L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 10.11 46086 chr5 10260954 10260954 T C rs376536268 CCT5 Synonymous SNV D253D 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 8.434 46087 chr9 123583192 123583192 A G rs1060817 PSMD5 Synonymous SNV D351D 0.601 0.643 0.663 250 705 247 0.641 195 221 75 61 78 9.249 46088 chr9 123631561 123631561 G A rs41273396 PHF19 Synonymous SNV A190A 0.059 0.031 0.044 19 69 12 0.049 13 3 0 0 0 16.74 46089 chr4 184612553 184612553 G C rs67383011 TRAPPC11 Nonsynonymous SNV V660L 0.086 0.068 0.071 30 101 26 0.077 21 6 1 0 2 Benign 14.16 46090 chr9 123632045 123632045 A G rs1056567 PHF19 Synonymous SNV S181S 0.681 0.745 0.735 282 800 286 0.723 216 278 106 78 101 6.609 46091 chr4 187540042 187540042 G A rs192818736 FAT1 Synonymous SNV V2566V 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Benign 0.106 46092 chr4 184930646 184930646 G A rs61730738 STOX2 Nonsynonymous SNV A219T 0.011 0.018 0.024 2 13 7 0.005 7 0 0 0 0 9.906 46093 chr9 124043867 124043867 C T rs10985200 GSN-AS1 0 0 0.49 0 0 0 0 144 0 0 40 0 6.414 46094 chr9 124094820 124094820 G - rs750858951 GSN D764Mfs*83 0 0 0.003 1 0 0 0.003 1 0 0 0 0 46095 chr9 124225598 124225598 C T rs77378583 GGTA1P 0 0 0.109 0 0 0 0 32 0 0 3 0 9.224 46096 chr4 187542922 187542922 A G rs34360279 FAT1 Synonymous SNV I1606I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 0.585 46097 chr5 10649784 10649784 G A rs113222960 ANKRD33B Synonymous SNV A348A 0.164 0.112 0.095 54 193 43 0.138 28 63 13 8 15 2.177 46098 chr4 184932088 184932088 C T rs61730747 STOX2 Synonymous SNV S699S 0.011 0.018 0.024 2 13 7 0.005 7 0 0 0 0 8.745 46099 chr9 124241369 124241369 T G rs871670 GGTA1P 0 0 0.323 0 0 0 0 95 0 0 14 0 15.17 46100 chr9 124241603 124241603 G C rs871672 GGTA1P 0 0 0.248 0 0 0 0 73 0 0 12 0 0.622 46101 chr4 184932332 184932332 G A rs202047058 STOX2 Nonsynonymous SNV D781N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 46102 chr9 125143792 125143792 C A rs5788 PTGS1 Synonymous SNV G165G 0.091 0.083 0.116 33 107 32 0.085 34 4 2 1 2 14.54 46103 chr9 125143973 125143973 C A rs5789 PTGS1 Nonsynonymous SNV L189M 0.026 0.031 0.031 10 31 12 0.026 9 0 2 0 0 28.5 46104 chr16 82033612 82033612 T C rs16956174 SDR42E1 Nonsynonymous SNV K96E 0.042 0.063 0.031 13 49 24 0.033 9 0 2 1 0 0.001 46105 chr16 82034435 82034435 C G rs6564956 SDR42E1 Nonsynonymous SNV S10T 0.021 0.021 0.01 7 25 8 0.018 3 0 0 1 0 0.17 46106 chr9 125289083 125289083 A G rs16911867 OR1N1 Synonymous SNV L164L 0.334 0.318 0.293 135 392 122 0.346 86 69 21 6 20 7.839 46107 chr16 82101827 82101827 C T rs8191135 HSD17B2 Synonymous SNV G106G 0.016 0.016 0.007 3 19 6 0.008 2 0 0 0 0 13.48 46108 chr4 144134952 144134952 A T USP38 Nonsynonymous SNV Q608L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.06 46109 chr4 57377454 57377454 C - rs150176049 ARL9 Q129Kfs*40 0.031 0.034 0.041 13 36 13 0.033 12 1 0 0 1 46110 chr4 675949 675949 G A rs183765686 SLC49A3 Nonsynonymous SNV A375V 0.009 0.016 0.003 3 11 6 0.008 1 0 0 0 0 1.161 46111 chr4 186066373 186066373 T C rs149101873 SLC25A4 Synonymous SNV A189A 0.009 0.008 0.014 7 10 3 0.018 4 0 0 0 0 Benign/Likely benign 4.681 46112 chr4 1985587 1985587 G A rs1139902 NELFA Synonymous SNV N430N 0.028 0.029 0.034 17 33 11 0.044 10 0 0 1 0 Benign 9.806 46113 chr4 144617554 144617554 G T rs61732656 FREM3 Synonymous SNV V1425V 0.02 0.036 0.031 14 23 14 0.036 9 0 0 1 0 0.876 46114 chr4 57397157 57397157 G C rs73818121 THEGL Synonymous SNV G105G 0.096 0.122 0.092 32 113 47 0.082 27 3 3 1 2 2.773 46115 chr4 68497597 68497597 C A rs77075932 UBA6 Synonymous SNV L724L 0.152 0.195 0.201 62 178 75 0.159 59 27 9 7 7 15.4 46116 chr5 110456704 110456704 A T rs13186912 WDR36 Synonymous SNV V727V 0.35 0.341 0.289 144 411 131 0.369 85 72 19 15 33 Benign 6.558 46117 chr4 7735111 7735111 A G rs79532786 SORCS2 Synonymous SNV G1057G 0.078 0.083 0.061 23 91 32 0.059 18 7 1 0 0 0.946 46118 chr4 68534392 68534392 C T rs10010188 UBA6 Nonsynonymous SNV A224T 0.193 0.234 0.218 68 226 90 0.174 64 27 10 7 7 24.5 46119 chr5 11117583 11117583 C T rs2285975 CTNND2 Synonymous SNV G415G 0.046 0.026 0.037 14 54 10 0.036 11 0 0 0 0 15.72 46120 chr16 83813622 83813622 C T rs151311546 CDH13 Synonymous SNV D538D 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 15.03 46121 chr4 146576418 146576418 G C rs2270655 MMAA Nonsynonymous SNV Q363H 0.035 0.013 0.044 15 41 5 0.038 13 0 0 0 0 Benign/Likely benign 17.51 46122 chr4 57677869 57677869 G A rs368929102 SPINK2 Nonsynonymous SNV L101F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.5 46123 chr16 84203511 84203511 G A rs35504640 DNAAF1 Synonymous SNV A123A 0.051 0.049 0.037 13 60 19 0.033 11 1 0 0 0 Benign 8.358 46124 chr4 148984321 148984321 A G rs2276932 ARHGAP10 Nonsynonymous SNV M684V 0.089 0.076 0.085 20 104 29 0.051 25 2 1 0 0 0.561 46125 chr17 21207835 21207835 G A rs76111309 MAP2K3 Synonymous SNV T193T 0.009 0.013 0 5 11 5 0.013 0 0 0 0 0 15.63 46126 chr16 84203595 84203595 C G rs36062234 DNAAF1 Nonsynonymous SNV D151E 0.052 0.049 0.037 13 61 19 0.033 11 1 0 0 0 Benign 23.3 46127 chr16 84203730 84203730 G C rs9972733 DNAAF1 Nonsynonymous SNV E196D 0.107 0.076 0.109 41 126 29 0.105 32 7 0 4 1 Benign 0.123 46128 chr4 186544153 186544153 C T rs150703988 SORBS2 Synonymous SNV G710G 0.021 0.026 0.01 8 25 10 0.021 3 0 0 0 0 1.945 46129 chr16 84212710 84212710 C T rs4150176 TAF1C Nonsynonymous SNV R484H 0.099 0.122 0.071 44 116 47 0.113 21 4 2 1 1 12.38 46130 chr16 84212853 84212853 G C rs4150174 TAF1C Synonymous SNV P436P 0.101 0.12 0.075 43 118 46 0.11 22 5 2 1 1 0.201 46131 chr4 151000419 151000419 G A rs56382032 DCLK2 Synonymous SNV G80G 0.02 0.01 0.027 9 24 4 0.023 8 0 0 0 1 13.21 46132 chr4 187026611 187026611 G C rs575756168 FAM149A Synonymous SNV A127A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.939 46133 chr16 84213684 84213684 C T rs4150167 TAF1C Nonsynonymous SNV G191R 0.047 0.047 0.031 11 55 18 0.028 9 1 0 0 1 21 46134 chr4 5991084 5991084 T G rs2003982 C4orf50 Nonsynonymous SNV T718P 0.082 0.089 0.102 27 96 34 0.069 30 6 1 2 1 0.026 46135 chr4 2307121 2307121 G A rs61742112 ZFYVE28 Nonsynonymous SNV P286S 0.135 0.104 0.143 44 159 40 0.113 42 7 1 3 1 0.018 46136 chr4 151765336 151765336 G A rs11735845 LRBA Synonymous SNV G1495G 0.032 0.034 0.027 14 38 13 0.036 8 0 0 0 0 Benign 12.89 46137 chr4 151773593 151773593 G C rs1782360 LRBA Nonsynonymous SNV A1090G 0.071 0.068 0.065 21 83 26 0.054 19 1 0 0 1 Benign 7.726 46138 chr9 125618080 125618080 T G rs7033878 RC3H2 Synonymous SNV I787I 0.043 0.044 0.065 17 51 17 0.044 19 1 0 0 1 9.562 46139 chr5 112676297 112676297 C T rs146340635 MCC Synonymous SNV Q182Q 0.041 0.026 0.031 21 48 10 0.054 9 2 1 0 1 Benign 5.935 46140 chr4 79385632 79385632 C T rs13123710 FRAS1 Synonymous SNV V2308V 0.039 0.026 0.034 15 46 10 0.038 10 1 0 0 0 Benign 13.93 46141 chr5 112824036 112824036 - GCC rs560483887 MCC S25_S26insG 0.081 0.073 0.068 35 95 28 0.09 20 4 0 0 3 46142 chr9 125772726 125772726 G A rs35521477 RABGAP1 Nonsynonymous SNV A490T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.6 46143 chr5 112889370 112889370 G C rs75714066 YTHDC2 Nonsynonymous SNV D351H 0.129 0.12 0.088 48 152 46 0.123 26 9 3 2 3 21.4 46144 chr4 79387399 79387399 G A rs377717035 FRAS1 Nonsynonymous SNV R2356H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 46145 chr5 11397188 11397188 C T rs17802557 CTNND2 Synonymous SNV P98P 0.059 0.052 0.041 12 69 20 0.031 12 3 1 0 0 14.35 46146 chr4 79461956 79461956 T C rs61748814 FRAS1 Nonsynonymous SNV I3906T 0.021 0.026 0.02 10 25 10 0.026 6 0 0 0 0 Conflicting interpretations of pathogenicity 13.87 46147 chr4 647740 647740 G A rs374156343 PDE6B Nonsynonymous SNV E271K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Uncertain significance 23.4 46148 chr4 71115060 71115060 G A rs3775739 CSN3 Nonsynonymous SNV A145T 0.181 0.193 0.143 54 212 74 0.138 42 12 8 4 3 0.09 46149 chr5 114480364 114480364 C T rs7716270 TRIM36 Synonymous SNV L79L 0.074 0.052 0.071 25 87 20 0.064 21 2 0 0 1 12.44 46150 chr4 72313411 72313411 C T rs34373561 SLC4A4 Synonymous SNV H294H 0.029 0.026 0.02 5 34 10 0.013 6 0 0 0 0 Benign 15.2 46151 chr5 114860161 114860161 G A rs73253005 FEM1C Synonymous SNV D566D 0.08 0.073 0.105 28 94 28 0.072 31 2 2 1 1 1.117 46152 chr4 72433545 72433545 A C rs1062677 SLC4A4 Nonsynonymous SNV I1074L 0.155 0.141 0.129 58 182 54 0.149 38 13 6 2 5 Benign 15.18 46153 chr4 154625409 154625409 T C rs3804100 TLR2 Synonymous SNV S450S 0.052 0.065 0.065 27 61 25 0.069 19 4 0 1 2 0.002 46154 chr4 2896425 2896425 C T rs16843169 ADD1 Synonymous SNV C236C 0.021 0.023 0.024 4 25 9 0.01 7 0 0 0 0 13.93 46155 chr4 2932589 2932589 C T rs1034400 MFSD10 Synonymous SNV P448P 0.023 0.023 0.024 4 27 9 0.01 7 0 0 0 0 11.52 46156 chr4 71384537 71384537 C T rs35286445 AMTN Nonsynonymous SNV R15W 0.202 0.214 0.262 97 237 82 0.249 77 21 10 9 12 26 46157 chr4 81952637 81952637 T A rs74764079 BMP3 Nonsynonymous SNV Y67N 0.019 0.01 0.014 7 22 4 0.018 4 0 0 0 0 24.5 46158 chr4 72631184 72631184 C T rs114932951 GC Synonymous SNV E146E 0.014 0.016 0.007 6 17 6 0.015 2 0 0 0 0 13.67 46159 chr4 2934920 2934920 T G rs34745961 MFSD10 Synonymous SNV A95A 0.021 0.029 0.024 5 25 11 0.013 7 0 0 0 0 6.985 46160 chr4 154709759 154709759 C T rs556787764 SFRP2 Nonsynonymous SNV G77S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.584 46161 chr9 126202682 126202682 T G DENND1A Nonsynonymous SNV K450T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 46162 chr4 72631218 72631218 G A rs142840177 GC Nonsynonymous SNV T135I 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 24.6 46163 chr4 71570808 71570808 C A rs770623744 RUFY3 Nonsynonymous SNV A52D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 46164 chr9 12694255 12694255 C A rs34509359 TYRP1 Synonymous SNV R87R 0.072 0.07 0.044 21 85 27 0.054 13 2 0 0 1 Benign 18.12 46165 chr4 72669661 72669661 C A rs76781122 GC Star tloss M1? 0.048 0.049 0.031 8 56 19 0.021 9 1 1 0 0 0.432 46166 chr9 12698471 12698471 T C rs35866166 TYRP1 Synonymous SNV S243S 0.074 0.076 0.054 22 87 29 0.056 16 2 0 2 1 Benign 0.242 46167 chr16 84495770 84495770 G A rs2241639 ATP2C2-AS1 0.181 0.161 0.245 71 213 62 0.182 72 41 10 8 12 3.147 46168 chr5 118669304 118669304 C T rs56329027 TNFAIP8 Synonymous SNV H15H 0.204 0.203 0.194 73 240 78 0.187 57 20 6 5 7 9.461 46169 chr5 118728953 118728953 G C rs3203922 TNFAIP8 Synonymous SNV V148V 0.242 0.245 0.238 98 284 94 0.251 70 37 12 8 12 7.467 46170 chr4 3148653 3148653 T G rs1143646 HTT Nonsynonymous SNV I1091M 0.041 0.042 0.037 8 48 16 0.021 11 1 0 0 0 16.7 46171 chr4 68500171 68500171 A G rs10008910 UBA6 Synonymous SNV H636H 0.156 0.159 0.214 55 183 61 0.141 63 27 10 7 8 7.873 46172 chr4 68703974 68703974 T C rs759678468 TMPRSS11D Nonsynonymous SNV M131V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 46173 chr4 23814707 23814707 G A rs3736265 PPARGC1A Nonsynonymous SNV T485M 0.068 0.107 0.109 26 80 41 0.067 32 2 1 1 1 12.83 46174 chr17 26107904 26107904 T C rs200688826 NOS2 Nonsynonymous SNV K298R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.8 46175 chr4 3318726 3318726 A T rs16844152 RGS12 Nonsynonymous SNV M277L 0.027 0.034 0.048 6 32 13 0.015 14 0 0 0 0 4.078 46176 chr9 127818276 127818276 C T rs589292 SCAI Nonsynonymous SNV A37T 0.297 0.336 0.316 144 349 129 0.369 93 69 27 11 34 24.5 46177 chr17 26686416 26686416 G A rs11538927 TMEM199 Nonsynonymous SNV V122I 0.017 0.008 0.003 4 20 3 0.01 1 0 0 0 0 22.2 46178 chr9 127951863 127951863 G A rs466994 PPP6C Synonymous SNV F45F 0.422 0.445 0.456 167 496 171 0.428 134 137 49 26 45 6.295 46179 chr4 3344680 3344680 G A rs61748736 RGS12 Nonsynonymous SNV R633Q 0.026 0.031 0.048 6 30 12 0.015 14 0 0 0 0 23.5 46180 chr9 127975654 127975654 C T rs1128362 RABEPK Nonsynonymous SNV H73Y 0.135 0.112 0.122 37 158 43 0.095 36 8 1 2 1 15.91 46181 chr4 755129 755129 C T rs2242234 PCGF3 Synonymous SNV R175R 0.086 0.07 0.105 47 101 27 0.121 31 3 2 2 2 13.95 46182 chr16 85010026 85010026 T C ZDHHC7 Nonsynonymous SNV M284V 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 16.26 46183 chr9 127982852 127982852 C - rs546948946 RABEPK P84Hfs*44 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 46184 chr9 127996046 127996046 A G rs599063 RABEPK Synonymous SNV P251P 0.098 0.112 0.092 31 115 43 0.079 27 6 0 3 0 10.65 46185 chr16 85689983 85689988 GAGCGC - rs372901919 GSE1 R247_E248del 0.027 0.036 0.037 16 32 14 0.041 11 0 1 0 2 46186 chr5 122682334 122682334 C T rs2303720 CEP120 Nonsynonymous SNV R921H 0.016 0.023 0.007 8 19 9 0.021 2 0 0 0 0 35 46187 chr4 7684544 7684544 C T rs35306661 SORCS2 Synonymous SNV N472N 0.052 0.07 0.051 20 61 27 0.051 15 3 1 0 1 11.35 46188 chr5 123983915 123983915 G T rs6862252 ZNF608 Nonsynonymous SNV T721N 0.509 0.534 0.507 177 598 205 0.454 149 147 57 41 41 0.342 46189 chr4 76440734 76440734 A G rs151322436 THAP6 Synonymous SNV T24T 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 1.067 46190 chr4 3491504 3491504 G A rs59932476 DOK7 Nonsynonymous SNV G248R 0.04 0.031 0.041 11 47 12 0.028 12 2 0 1 0 Benign 4.653 46191 chr4 3494956 3494956 C T rs16844464 DOK7 Nonsynonymous SNV P105S 0.047 0.039 0.041 12 55 15 0.031 12 2 0 1 0 Benign 1.195 46192 chr4 3526645 3526645 C T rs11549516 LRPAP1 Nonsynonymous SNV R113H 0.038 0.039 0.031 13 45 15 0.033 9 2 0 0 0 23.2 46193 chr4 70512721 70512721 G T rs72552708 UGT2A1 Synonymous SNV I214I 0.035 0.029 0.034 15 41 11 0.038 10 0 0 0 0 8.94 46194 chr16 87380801 87380801 G A rs139144108 FBXO31 Synonymous SNV Y156Y 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Likely benign 1.256 46195 chr5 125936672 125936672 C T rs75136984 PHAX Synonymous SNV G6G 0.044 0.029 0.034 15 52 11 0.038 10 0 0 0 0 14.9 46196 chr4 76857388 76857388 C T rs4859572 NAAA Synonymous SNV V124V 0.206 0.172 0.194 69 242 66 0.177 57 28 2 4 4 15.06 46197 chr4 8443041 8443041 C T rs3806811 TRMT44 Synonymous SNV L164L 0.078 0.091 0.078 32 92 35 0.082 23 3 0 1 2 10.34 46198 chr4 159092106 159092106 C T rs147697286 GASK1B Nonsynonymous SNV G141E 0.014 0.029 0.007 4 17 11 0.01 2 0 0 0 0 14.83 46199 chr4 71024099 71024099 A G rs1612460 PRR27 Nonsynonymous SNV I44V 0.138 0.151 0.16 48 162 58 0.123 47 11 2 1 4 0.003 46200 chr4 77476772 77476772 G T rs144435434 SHROOM3 Nonsynonymous SNV G60V 0.021 0.01 0.014 3 25 4 0.008 4 0 0 0 0 24.9 46201 chr16 87637697 87637697 G T rs78568056 JPH3 Nonsynonymous SNV G129C 0.013 0.01 0.014 6 15 4 0.015 4 2 0 0 0 14.06 46202 chr4 15937706 15937706 G A rs199701032 FGFBP1 Synonymous SNV L184L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.908 46203 chr17 26955337 26955337 G A rs61743603 KIAA0100 Nonsynonymous SNV P1371S 0.018 0.013 0.01 6 21 5 0.015 3 0 0 0 0 15.92 46204 chr4 265547 265547 A G rs150738695 ZNF732 Nonsynonymous SNV C367R 0.03 0.023 0.031 8 35 9 0.021 9 0 0 0 0 24.4 46205 chr4 159568236 159568236 T C rs1015838638 RXFP1 Synonymous SNV L499L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.738 46206 chr4 77661017 77661017 A C rs76656494 SHROOM3 Nonsynonymous SNV E564A 0.033 0.031 0.031 13 39 12 0.033 9 1 0 0 0 17.44 46207 chr17 27022455 27022455 T C rs765884890 SUPT6H Nonsynonymous SNV M1287T 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 13.59 46208 chr4 77662361 77662361 C A rs147732653 SHROOM3 Nonsynonymous SNV T1012N 0.03 0.026 0.027 11 35 10 0.028 8 1 0 0 0 13.36 46209 chr5 128442644 128442644 T C rs3734161 ISOC1 Synonymous SNV H213H 0.032 0.034 0.044 13 37 13 0.033 13 0 0 0 0 6.878 46210 chr4 71472426 71472426 A G rs7680880 AMBN Synonymous SNV A441A 0.083 0.073 0.075 44 98 28 0.113 22 7 1 1 2 0.003 46211 chr4 7738889 7738889 C T rs377559686 SORCS2 Synonymous SNV G1135G 0.008 0 0 0 9 0 0 0 0 0 0 0 13.84 46212 chr4 77817458 77817458 G A rs139786184 SOWAHB Synonymous SNV L515L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 6.296 46213 chr4 7802227 7802227 G C rs28406288 AFAP1 Nonsynonymous SNV S403C 0.188 0.198 0.224 93 221 76 0.238 66 13 6 4 10 23.2 46214 chr4 72205163 72205163 G A rs772559707 SLC4A4 Synonymous SNV T66T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 46215 chr5 130500842 130500842 A G rs4696 HINT1 Synonymous SNV F19F 0.065 0.06 0.048 25 76 23 0.064 14 3 0 0 0 Benign 10.74 46216 chr5 130515811 130515811 G A rs113642581 LYRM7 Synonymous SNV L14L 0.045 0.021 0.02 14 53 8 0.036 6 0 0 0 1 Benign 11.56 46217 chr4 2935618 2935618 C G rs17851257 MFSD10 Synonymous SNV P11P 0.026 0.047 0.01 12 30 18 0.031 3 0 2 0 1 14.6 46218 chr4 87685863 87685863 G C rs755869326 PTPN13 Nonsynonymous SNV G1188R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.8 46219 chr5 130808293 130808293 A G rs9327613 RAPGEF6 Synonymous SNV F742F 0.053 0.044 0.041 26 62 17 0.067 12 2 0 1 1 6.007 46220 chr9 130891060 130891060 G A rs12377832 PTGES2-AS1 0 0 0.15 0 0 0 0 44 0 0 3 0 8.726 46221 chr4 3076672 3076672 - CCGCCGCCG rs772429544 HTT P49_Q50insPPP 0.05 0.055 0.017 21 59 21 0.054 5 12 6 1 1 46222 chr5 130840385 130840385 A G rs10063129 RAPGEF6 Synonymous SNV I396I 0.06 0.044 0.044 26 70 17 0.067 13 4 0 1 1 1.479 46223 chr17 27580756 27580756 C T rs1047790 CRYBA1 Synonymous SNV G152G 0.134 0.159 0.095 64 157 61 0.164 28 12 6 4 2 Benign 10.49 46224 chr9 131083992 131083992 G T rs150599940 TRUB2 Nonsynonymous SNV P43T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 46225 chr5 131281106 131281106 G C rs652839 MEIKIN Synonymous SNV A31A 0.17 0.161 0.187 79 199 62 0.203 55 15 5 5 5 Benign 1.054 46226 chr16 88502208 88502208 A T rs3812954 ZNF469 Nonsynonymous SNV D2777V 0.127 0.096 0.071 55 149 37 0.141 21 6 5 0 7 Benign/Likely benign 17.73 46227 chr5 131607721 131607721 C T rs10479001 PDLIM4 Nonsynonymous SNV A225V 0.101 0.083 0.061 43 119 32 0.11 18 11 0 1 1 15.41 46228 chr17 27908967 27908967 G A rs367937603 GIT1 Nonsynonymous SNV R201C 0.003 0 0 0 4 0 0 0 0 0 0 0 34 46229 chr4 78082086 78082086 C T rs4150063 CCNG2 Synonymous SNV H163H 0.048 0.044 0.034 17 56 17 0.044 10 4 0 0 0 11.21 46230 chr4 3240312 3240312 G A rs141927489 HTT Synonymous SNV Q3010Q 0.009 0.01 0 9 11 4 0.023 0 0 0 0 1 10.12 46231 chr5 131671662 131671662 C G rs12777 SLC22A4 Synonymous SNV G471G 0.067 0.057 0.044 26 79 22 0.067 13 4 0 1 0 Benign 11 46232 chr4 3444592 3444592 C G rs149401735 HGFAC Nonsynonymous SNV P84R 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 0.005 46233 chr5 132149566 132149566 C T rs564031465 SOWAHA Nonsynonymous SNV P85S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.931 46234 chr17 29161334 29161334 G A ATAD5 Nonsynonymous SNV G79R 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 0.119 46235 chr4 3494600 3494600 A G rs6811423 DOK7 Nonsynonymous SNV Q152R 0.171 0.188 0.112 54 201 72 0.138 33 13 8 2 1 Benign 0.041 46236 chr4 3494826 3494826 A C rs6811856 DOK7 Synonymous SNV S61S 0.172 0.188 0.112 53 202 72 0.136 33 13 8 2 1 Benign 0.004 46237 chr9 132374646 132374646 G A rs147897388 C9orf50 Synonymous SNV L426L 0.014 0.016 0.017 16 17 6 0.041 5 0 0 0 0 0.474 46238 chr4 169341450 169341450 A C rs189472897 DDX60L Nonsynonymous SNV F826V 0 0.005 0 0 0 2 0 0 0 0 0 0 22.8 46239 chr9 132377900 132377900 C T rs918165 C9orf50 Nonsynonymous SNV R248K 0.434 0.375 0.422 173 509 144 0.444 124 114 27 25 36 0.003 46240 chr4 3494898 3494898 C T rs6850908 DOK7 Synonymous SNV Y85Y 0.174 0.19 0.112 51 204 73 0.131 33 12 8 2 0 Benign 5.335 46241 chr4 80328458 80328458 G C GK2 Synonymous SNV G299G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 46242 chr9 132515247 132515247 G A rs11792431 PTGES Synonymous SNV A15A 0.041 0.018 0.065 9 48 7 0.023 19 2 0 0 1 13.56 46243 chr4 8108315 8108315 C T rs41266521 ABLIM2 Synonymous SNV T20T 0.147 0.125 0.143 51 173 48 0.131 42 11 3 2 1 13.97 46244 chr5 133861426 133861426 G T rs75304543 JADE2 Nonsynonymous SNV L14F 0.13 0.117 0.136 36 153 45 0.092 40 7 5 2 2 9.806 46245 chr4 77033590 77033590 C T rs1128864 ART3 Nonsynonymous SNV S341L 0.215 0.174 0.211 81 252 67 0.208 62 28 6 9 11 19.63 46246 chr4 81283916 81283916 C T rs17004886 CFAP299 Synonymous SNV T40T 0.013 0.008 0.017 3 15 3 0.008 5 1 0 0 0 13.54 46247 chr5 134343799 134343799 A G rs177252 CATSPER3 Synonymous SNV A215A 0.294 0.31 0.33 105 345 119 0.269 97 53 21 18 15 0.17 46248 chr5 134364518 134364518 C G rs479632 PITX1 Nonsynonymous SNV G299A 0.243 0.266 0.211 90 285 102 0.231 62 41 11 6 15 Benign 8.529 46249 chr4 95170839 95170839 G A rs11722476 SMARCAD1 Nonsynonymous SNV S247N 0.35 0.318 0.374 124 411 122 0.318 110 72 16 22 20 12.29 46250 chr4 41628818 41628818 A G rs74459605 LIMCH1 Synonymous SNV S273S 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 0.036 46251 chr4 95186055 95186055 A G rs2306802 SMARCAD1 Synonymous SNV Q63Q 0.33 0.307 0.357 122 388 118 0.313 105 63 15 21 19 10.14 46252 chr9 133760617 133760617 C T rs11558834 ABL1 Synonymous SNV P980P 0.058 0.044 0.044 17 68 17 0.044 13 2 1 0 0 3.963 46253 chr5 135207187 135207187 G A rs2304079 SLC25A48 Synonymous SNV A153A 0.07 0.065 0.065 20 82 25 0.051 19 3 1 1 2 5.168 46254 chr4 8229647 8229647 C T rs138475779 SH3TC1 Synonymous SNV A666A 0.005 0 0 0 6 0 0 0 0 0 0 0 8.89 46255 chr4 170634258 170634258 C T rs148270553 CLCN3 Synonymous SNV I699I 0 0.005 0 0 0 2 0 0 0 0 0 0 15.71 46256 chr4 41672759 41672759 C T rs2289342 LIMCH1 Nonsynonymous SNV P744L 0.058 0.06 0.065 14 68 23 0.036 19 1 1 0 0 20.9 46257 chr4 82355804 82355804 C T rs34211143 RASGEF1B Nonsynonymous SNV V355I 0.018 0.021 0.01 7 21 8 0.018 3 0 0 0 0 15.55 46258 chr9 133901819 133901819 C A rs2275137 LAMC3 Nonsynonymous SNV P174H 0.193 0.208 0.224 71 227 80 0.182 66 22 11 11 5 Benign/Likely benign 12.48 46259 chr9 133901820 133901820 C G rs2275136 LAMC3 Synonymous SNV P174P 0.147 0.164 0.16 51 172 63 0.131 47 11 8 6 3 Likely benign 10.08 46260 chr4 83347266 83347266 A G rs79373393 HNRNPDL Synonymous SNV Y346Y 0.061 0.036 0.02 20 72 14 0.051 6 3 0 0 0 Benign 0.004 46261 chr4 83348652 83348652 T C rs61729822 HNRNPDL Synonymous SNV T280T 0.061 0.036 0.027 20 72 14 0.051 8 3 0 0 0 Benign 5.975 46262 chr4 960542 960542 T G rs35117553 DGKQ Synonymous SNV R454R 0.009 0.018 0.003 3 11 7 0.008 1 0 0 0 0 0.811 46263 chr5 135388663 135388663 A G rs1054124 TGFBI Synonymous SNV V327V 0.284 0.242 0.238 106 334 93 0.272 70 41 7 9 14 Benign 5.158 46264 chr9 133914570 133914570 G A rs2293518 LAMC3 Synonymous SNV T406T 0.28 0.266 0.224 91 329 102 0.233 66 48 15 6 6 Benign/Likely benign 14.12 46265 chr5 135391374 135391374 C T rs1133170 TGFBI Synonymous SNV L472L 0.28 0.242 0.231 106 329 93 0.272 68 39 7 10 14 Benign 12.94 46266 chr5 135392426 135392426 T C rs4669 TGFBI Synonymous SNV F540F 0.284 0.242 0.241 106 334 93 0.272 71 41 7 10 14 Benign 4.584 46267 chr16 88878048 88878048 G A rs8191473 APRT Synonymous SNV L33L 0.014 0.018 0.01 5 17 7 0.013 3 0 0 0 0 Likely benign 5.749 46268 chr5 135398363 135398363 G C rs121909217 TGFBI Nonsynonymous SNV R666S 0.005 0.003 0.014 1 6 1 0.003 4 0 0 0 0 Uncertain significance 16.86 46269 chr16 89017569 89017569 G C rs34847212 LOC100129697 Nonsynonymous SNV G348A 0.018 0.021 0.017 7 21 8 0.018 5 6 1 1 1 0.07 46270 chr4 1739028 1739028 C T rs62285111 TACC3 Synonymous SNV F603F 0.007 0.005 0.007 7 8 2 0.018 2 1 0 0 0 Benign 10.98 46271 chr9 133946909 133946909 G A rs10901344 LAMC3 Synonymous SNV G1036G 0.49 0.503 0.5 182 575 193 0.467 147 132 51 34 37 Benign 12.96 46272 chr9 133946915 133946915 C G rs10901345 LAMC3 Synonymous SNV L1038L 0.49 0.503 0.5 182 575 193 0.467 147 132 51 34 37 Benign 11.93 46273 chr4 4322624 4322624 C G rs34623124 ZBTB49 Nonsynonymous SNV P627A 0.011 0.016 0.007 4 13 6 0.01 2 1 0 0 0 24.4 46274 chr9 133951230 133951230 C T rs3818800 LAMC3 Synonymous SNV T1169T 0.083 0.065 0.085 30 97 25 0.077 25 9 1 0 0 Likely benign 12.83 46275 chr9 133963008 133963008 G A rs4740412 LAMC3 Nonsynonymous SNV R1459Q 0.347 0.339 0.35 126 407 130 0.323 103 67 20 15 16 Benign 6.483 46276 chr17 33884567 33884567 A G rs139678049 SLFN14 Nonsynonymous SNV V172A 0.01 0.021 0.027 1 12 8 0.003 8 0 0 1 0 Benign 0.001 46277 chr4 99027159 99027159 T C rs28403003 STPG2 Nonsynonymous SNV Y186C 0.05 0.06 0.027 23 59 23 0.059 8 2 1 2 0 0.011 46278 chr4 79176444 79176444 G A rs147332320 FRAS1 Nonsynonymous SNV R173Q 0.046 0.026 0.014 18 54 10 0.046 4 4 0 0 1 Benign 0.105 46279 chr9 134334588 134334588 A G rs34553878 PRRC2B Nonsynonymous SNV M417V 0.175 0.193 0.184 70 205 74 0.179 54 18 5 8 7 0.127 46280 chr16 89262431 89262431 G A rs2287353 SLC22A31 Synonymous SNV A421A 0.069 0.052 0.065 28 81 20 0.072 19 5 1 0 1 6.234 46281 chr4 47560015 47560015 A G rs34169638 ATP10D Nonsynonymous SNV N720S 0.064 0.068 0.078 30 75 26 0.077 23 3 0 0 0 0.023 46282 chr4 84519828 84519828 G A rs62303973 GPAT3 Nonsynonymous SNV R386K 0.063 0.078 0.071 19 74 30 0.049 21 4 2 2 0 29.7 46283 chr4 177056360 177056360 C A rs151159548 WDR17 Nonsynonymous SNV N400K 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 23.3 46284 chr17 34340834 34340834 G A rs11657605 CCL23 Synonymous SNV L84L 0.051 0.073 0.054 25 60 28 0.064 16 0 0 0 2 2.29 46285 chr4 47901088 47901088 C T rs34323060 NFXL1 Synonymous SNV K292K 0.021 0.052 0.034 12 25 20 0.031 10 1 2 0 0 14.26 46286 chr4 48027178 48027178 C T rs182626350 NIPAL1 Nonsynonymous SNV T47M 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 11.26 46287 chr4 79410216 79410216 A G rs375788413 FRAS1 Synonymous SNV T2980T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.171 46288 chr4 8605860 8605860 C T rs28421391 CPZ Synonymous SNV D207D 0.02 0.01 0.01 8 23 4 0.021 3 0 0 0 0 17.07 46289 chr9 134433463 134433463 T C rs4740167 PRRT1B Synonymous SNV G227G 0 0 0.483 0 0 0 0 142 0 0 45 0 11.05 46290 chr9 135073967 135073967 C T rs3739930 NTNG2 Synonymous SNV Y276Y 0.158 0.167 0.153 78 186 64 0.2 45 18 5 3 9 8.368 46291 chr4 8616224 8616224 C T rs9991535 CPZ Nonsynonymous SNV T490M 0.019 0.01 0.01 8 22 4 0.021 3 1 0 0 0 5.579 46292 chr5 138266546 138266546 G A rs1059110 CTNNA1 Synonymous SNV S257S 0.206 0.224 0.214 93 242 86 0.238 63 30 6 6 10 Benign 17.46 46293 chr5 13864728 13864728 C A rs6554827 DNAH5 Synonymous SNV R1458R 0.395 0.409 0.395 161 464 157 0.413 116 95 31 24 30 Benign 16.77 46294 chr5 101834469 101834469 G A rs13190449 SLCO6A1 Nonsynonymous SNV A27V 0.018 0.016 0.02 11 21 6 0.028 6 0 0 0 0 13.67 46295 chr5 13865980 13865980 T C rs7703349 DNAH5 Synonymous SNV T1384T 0.365 0.372 0.418 153 429 143 0.392 123 100 33 29 33 Benign 0.171 46296 chr4 87809020 87809020 C G rs72613147 C4orf36 Nonsynonymous SNV V83L 0.145 0.128 0.129 67 170 49 0.172 38 17 1 2 4 7.953 46297 chr9 135277341 135277341 C A rs8999 TTF1 Nonsynonymous SNV A290S 0.102 0.128 0.092 47 120 49 0.121 27 4 3 1 1 0.19 46298 chr4 86921800 86921800 G T ARHGAP24 Nonsynonymous SNV Q531H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 46299 chr9 135538050 135538050 C T rs35918594 DDX31 Synonymous SNV A141A 0.075 0.083 0.085 33 88 32 0.085 25 1 1 2 1 18.55 46300 chr4 79792137 79792148 CAGCAGCAGCAG - rs757579061 BMP2K Q483_Q486del 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 46301 chr4 87809025 87809025 T C rs28664715 C4orf36 Nonsynonymous SNV Y81C 0.104 0.068 0.075 25 122 26 0.064 22 9 0 1 0 23.7 46302 chr5 1038257 1038257 C T rs371598331 NKD2 Synonymous SNV P375P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.926 46303 chr16 90097748 90097748 C T rs2302513 GAS8 Synonymous SNV R19R 0.058 0.055 0.082 32 68 21 0.082 24 2 0 1 3 15.1 46304 chr16 90109519 90109519 G A rs2241032 URAHP 0.096 0.096 0.126 39 113 37 0.1 37 5 1 2 3 1.522 46305 chr4 53786947 53786947 C A SCFD2 Nonsynonymous SNV R551L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 34 46306 chr4 184614210 184614210 C G rs143990563 TRAPPC11 Nonsynonymous SNV A716G 0.003 0.013 0.003 1 4 5 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 46307 chr4 185012387 185012387 C T rs28495394 ENPP6 Synonymous SNV P422P 0.062 0.042 0.051 20 73 16 0.051 15 1 0 1 0 9.587 46308 chr4 88767008 88767008 G A rs17013285 MEPE Nonsynonymous SNV V330I 0.209 0.201 0.259 75 245 77 0.192 76 22 8 11 5 Benign 1.506 46309 chr5 1401064 1401064 T C rs147837176 SLC6A3 Nonsynonymous SNV E602G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.75 46310 chr4 5500706 5500706 T C rs61999284 STK32B Synonymous SNV L351L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.006 46311 chr4 8293270 8293270 C T rs146579711 HTRA3 Synonymous SNV I294I 0.011 0.013 0.003 3 13 5 0.008 1 0 0 0 0 13.5 46312 chr9 136507473 136507473 G A rs5320 DBH Nonsynonymous SNV A211T 0.071 0.089 0.048 37 83 34 0.095 14 0 2 0 1 Benign 0.003 46313 chr4 185593355 185593355 T C PRIMPOL Synonymous SNV P20P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.313 46314 chr4 8376707 8376707 C T rs200416377 ACOX3 Nonsynonymous SNV R609Q 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.84 46315 chr4 90170094 90170094 G A rs11733183 GPRIN3 Nonsynonymous SNV P390S 0.048 0.044 0.044 19 56 17 0.049 13 5 3 0 0 20.4 46316 chr4 83776174 83776174 A G rs138143090 SEC31A Synonymous SNV T591T 0.01 0.005 0.01 6 12 2 0.015 3 0 0 0 0 10.08 46317 chr4 90170497 90170497 C T rs17825627 GPRIN3 Synonymous SNV S255S 0.049 0.044 0.044 19 57 17 0.049 13 5 3 0 0 12.68 46318 chr4 90171147 90171147 G C rs11734353 GPRIN3 Nonsynonymous SNV L39V 0.048 0.044 0.044 19 56 17 0.049 13 5 3 0 0 0.002 46319 chr17 900479 900479 G C rs149879547 TIMM22 Nonsynonymous SNV V33L 0.009 0.005 0.007 8 10 2 0.021 2 0 0 0 0 Pathogenic 23.9 46320 chr4 56301675 56301675 T G rs35793438 CLOCK Synonymous SNV S816S 0.011 0.016 0.014 7 13 6 0.018 4 0 0 1 0 0.886 46321 chr4 95377638 95377638 C T rs113597018 PDLIM5 Nonsynonymous SNV R114C 0.008 0.005 0 7 9 2 0.018 0 0 0 0 0 1.277 46322 chr17 1183338 1183338 C T rs111587833 TRARG1 Nonsynonymous SNV P15S 0.049 0.06 0.058 28 57 23 0.072 17 3 2 1 2 0.501 46323 chr4 56325365 56325365 G C rs34897046 CLOCK Nonsynonymous SNV S208C 0.011 0.016 0.014 7 13 6 0.018 4 0 0 1 0 25.9 46324 chr9 137271318 137271318 C A rs35196866 MIR4669 0 0 0.626 0 0 0 0 184 0 0 67 0 3.606 46325 chr4 90816294 90816294 A G rs1442138 MMRN1 Nonsynonymous SNV T58A 0.048 0.039 0.048 24 56 15 0.062 14 2 1 0 1 0.001 46326 chr9 137676914 137676914 C G rs150539264 COL5A1 Nonsynonymous SNV P855R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.09 46327 chr4 90816581 90816581 A G rs61730034 MMRN1 Synonymous SNV A153A 0.026 0.026 0.041 16 30 10 0.041 12 1 1 0 0 3.246 46328 chr9 137707834 137707834 G A rs3827848 COL5A1 Synonymous SNV T1374T 0.136 0.164 0.126 55 160 63 0.141 37 9 4 4 4 Benign/Likely benign 14.56 46329 chr4 90856091 90856091 C T rs113797318 MMRN1 Synonymous SNV L420L 0.027 0.026 0.031 14 32 10 0.036 9 1 1 0 0 12.31 46330 chr4 90857129 90857129 C T rs114975748 MMRN1 Synonymous SNV T766T 0.027 0.026 0.031 13 32 10 0.033 9 1 1 0 0 0.075 46331 chr4 47901476 47901476 G A rs12651301 NFXL1 Nonsynonymous SNV P246L 0.263 0.26 0.218 102 309 100 0.262 64 28 9 5 13 28.2 46332 chr9 137742018 137742018 - TATCACACCTCCCAGGAAGCACGG rs775685168 MIR3689B 0 0 0.626 0 0 0 0 184 0 0 59 0 46333 chr9 137742067 137742067 T A rs557076583 MIR3689B 0 0 0.014 0 0 0 0 4 0 0 0 0 0.167 46334 chr9 137742124 137742124 G A rs62571442 MIR3689D2 0 0 0.534 0 0 0 0 157 0 0 40 0 3.751 46335 chr9 137742192 137742192 C T rs143142996 MIR3689D2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.03 46336 chr9 137779091 137779091 G T rs7851696 FCN2 Nonsynonymous SNV A220S 0.101 0.094 0.092 34 119 36 0.087 27 8 3 0 0 24.2 46337 chr9 137979231 137979231 C G rs111481598 OLFM1 Synonymous SNV A4A 0.063 0.052 0.027 18 74 20 0.046 8 0 0 0 1 6.694 46338 chr4 9828099 9828099 G A rs144428359 SLC2A9 Synonymous SNV S515S 0.037 0.029 0.037 12 44 11 0.031 11 0 0 0 0 Benign 11.45 46339 chr5 140237158 140237158 G A rs142356019 PCDHA10 Nonsynonymous SNV V509M 0.066 0.065 0.051 32 77 25 0.082 15 13 3 0 2 25.1 46340 chr17 38122099 38122099 C T rs149553751 GSDMA Synonymous SNV Y53Y 0.049 0.044 0.041 17 58 17 0.044 12 0 0 0 0 12.39 46341 chr5 112403851 112403851 A T rs777351696 MCC Nonsynonymous SNV L462H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 46342 chr5 140256920 140256920 G C rs115718636 PCDHA12 Synonymous SNV P621P 0.057 0.057 0.048 31 67 22 0.079 14 4 0 0 0 6.89 46343 chr17 1630992 1630992 G A rs9912287 WDR81 Synonymous SNV L913L 0.231 0.206 0.194 77 271 79 0.197 57 36 7 7 5 Likely benign 0.019 46344 chr5 112770027 112770027 T G rs26980 TSSK1B Synonymous SNV A170A 0.065 0.052 0.095 29 76 20 0.074 28 2 0 1 1 8.919 46345 chr17 1631341 1631343 GAG - rs35048651 WDR81 E1033del 0.227 0.201 0.187 75 266 77 0.192 55 36 7 7 5 46346 chr4 52869526 52869526 C T rs201458130 LRRC66 Nonsynonymous SNV D177N 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 22.7 46347 chr4 57462788 57462788 C T rs28499459 THEGL Synonymous SNV P366P 0.008 0 0.01 1 9 0 0.003 3 0 0 0 0 10.57 46348 chr4 9922130 9922130 C T rs3733591 SLC2A9 Nonsynonymous SNV R294H 0.179 0.148 0.173 67 210 57 0.172 51 16 5 5 3 Benign 22.8 46349 chr4 52935998 52935998 C T rs75140760 SPATA18 Nonsynonymous SNV T145I 0.005 0.005 0 0 6 2 0 0 0 0 0 0 26 46350 chr17 1639350 1639350 C T rs117522064 WDR81 Synonymous SNV G578G 0.028 0.034 0.02 11 33 13 0.028 6 1 0 0 0 Likely benign 18.17 46351 chr4 87685796 87685796 T G rs10033029 PTPN13 Nonsynonymous SNV F1165L 0.13 0.091 0.116 31 153 35 0.079 34 12 1 0 1 10.67 46352 chr17 1648502 1648502 C T rs2070863 SERPINF2 Nonsynonymous SNV R33W 0.226 0.206 0.122 77 265 79 0.197 36 34 8 6 6 Benign 17.64 46353 chr4 53476754 53476754 G A rs61748750 USP46 Synonymous SNV D190D 0.029 0.039 0.007 12 34 15 0.031 2 0 0 0 1 11.3 46354 chr17 38907532 38907532 T G rs140952603 KRT25 Nonsynonymous SNV E239A 0.019 0.023 0.024 6 22 9 0.015 7 0 0 0 1 Benign 28.5 46355 chr9 139264888 139264888 T A rs114895119 CARD9 Nonsynonymous SNV E270V 0.014 0.016 0.017 8 17 6 0.021 5 1 0 0 0 Conflicting interpretations of pathogenicity 1.83 46356 chr4 87692393 87692393 G A rs12500797 PTPN13 Nonsynonymous SNV E1434K 0.129 0.086 0.119 32 152 33 0.082 35 12 1 0 2 20.1 46357 chr4 994452 994452 C T rs3755954 IDUA Synonymous SNV L118L 0.196 0.156 0.146 53 230 60 0.136 43 25 4 4 4 Benign/Likely benign 8.111 46358 chr4 87696470 87696470 A G rs12507034 PTPN13 Synonymous SNV T1694T 0.131 0.086 0.126 32 154 33 0.082 37 12 1 0 2 0.003 46359 chr4 87696476 87696476 G A rs12499471 PTPN13 Synonymous SNV T1696T 0.131 0.086 0.126 32 154 33 0.082 37 12 1 0 2 3.135 46360 chr9 139292762 139292762 T C rs75200747 SNAPC4 Nonsynonymous SNV D40G 0.064 0.078 0.048 35 75 30 0.09 14 0 0 1 4 23.1 46361 chr9 139297266 139297266 C T rs17855450 ENTR1 Nonsynonymous SNV V355I 0.063 0.078 0.048 35 74 30 0.09 14 0 0 1 4 0.015 46362 chr4 5800494 5800494 G A rs2279252 EVC Nonsynonymous SNV R760Q 0.018 0.018 0.017 2 21 7 0.005 5 0 0 0 0 Benign 23 46363 chr4 5806512 5806512 G A rs115976359 EVC Synonymous SNV S835S 0.017 0.018 0.017 2 20 7 0.005 5 0 0 0 0 Benign/Likely benign 7.811 46364 chr9 139326959 139326959 G A rs35774078 INPP5E Synonymous SNV P452P 0.069 0.081 0.048 35 81 31 0.09 14 0 0 2 4 Benign 3.531 46365 chr5 1038075 1038075 C T rs35433301 NKD2 Nonsynonymous SNV R315W 0.029 0.023 0.017 19 34 9 0.049 5 0 0 0 0 Benign 23.6 46366 chr5 140712299 140712299 A T rs62378404 PCDHGA1 Nonsynonymous SNV K683I 0.053 0.055 0.037 26 62 21 0.067 11 2 1 1 0 13.66 46367 chr9 139333269 139333269 G C rs36064831 INPP5E Nonsynonymous SNV I201M 0.051 0.065 0.041 33 60 25 0.085 12 0 0 2 4 Benign/Likely benign 0.053 46368 chr5 118506807 118506807 A G rs76475084 DMXL1 Synonymous SNV T2107T 0.062 0.068 0.068 25 73 26 0.064 20 1 1 1 0 0.002 46369 chr9 139368883 139368883 A G rs7022785 SEC16A Nonsynonymous SNV V1062A 0.052 0.065 0.041 33 61 25 0.085 12 0 0 2 4 0.002 46370 chr4 62800626 62800626 G A rs10013832 ADGRL3 Synonymous SNV T641T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.291 46371 chr9 139369079 139369079 T C rs73670288 SEC16A Nonsynonymous SNV T997A 0.051 0.065 0.041 33 60 25 0.085 12 0 0 2 4 4.551 46372 chr5 10649412 10649412 G C rs13174184 ANKRD33B Synonymous SNV G224G 0.018 0.018 0.017 12 21 7 0.031 5 0 0 0 1 4.839 46373 chr5 10649625 10649625 C T rs185973776 ANKRD33B Synonymous SNV S295S 0.016 0.016 0.017 12 19 6 0.031 5 0 0 0 1 9.729 46374 chr9 139370127 139370127 T C rs150824286 SEC16A Synonymous SNV P647P 0.051 0.065 0.041 33 60 25 0.085 12 0 0 2 4 0.181 46375 chr9 139391636 139391636 G A rs2229974 NOTCH1 Synonymous SNV D2185D 0.558 0.516 0.578 209 655 198 0.536 170 178 52 46 52 Benign 7.489 46376 chr4 88533540 88533540 A T rs36094464 DSPP Nonsynonymous SNV R68W 0.1 0.086 0.088 26 117 33 0.067 26 4 1 1 2 Benign/Likely benign 18.85 46377 chr9 139397707 139397707 G A rs10521 NOTCH1 Synonymous SNV D1698D 0.362 0.318 0.337 132 425 122 0.338 99 65 25 17 23 Benign 11.27 46378 chr5 10681110 10681110 A G rs5745296 DAP Synonymous SNV P108P 0.075 0.06 0.048 22 88 23 0.056 14 4 1 0 0 3.899 46379 chr9 139400219 139400219 G A rs61751542 NOTCH1 Nonsynonymous SNV P1377S 0.047 0.063 0.037 31 55 24 0.079 11 0 0 2 4 Benign 0.002 46380 chr5 141051236 141051236 C T rs12514851 ARAP3 Synonymous SNV A585A 0.154 0.146 0.136 50 181 56 0.128 40 11 5 2 1 18.45 46381 chr5 121187792 121187792 C A rs142007771 FTMT Nonsynonymous SNV P45H 0.032 0.036 0.031 9 37 14 0.023 9 0 0 0 0 23.1 46382 chr4 187525095 187525095 T C rs376769079 FAT1 Nonsynonymous SNV T3529A 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 0.008 46383 chr9 139413908 139413908 C T rs2229975 NOTCH1 Synonymous SNV P284P 0.174 0.151 0.204 65 204 58 0.167 60 19 4 6 7 Benign 18.98 46384 chr4 88537522 88537522 - AGCAGTGACAGCAGCGAT rs780050498 DSPP S1247_N1248insDSSDSS 0.085 0.078 0.007 19 100 30 0.049 2 2 1 0 1 46385 chr4 88583135 88583135 A T rs10019009 DMP1 Nonsynonymous SNV S53C 0.175 0.143 0.156 75 205 55 0.192 46 23 4 4 6 Benign 23.2 46386 chr5 108171483 108171483 G A rs55954478 FER Synonymous SNV E152E 0.13 0.115 0.044 46 153 44 0.118 13 9 0 1 1 10.92 46387 chr5 1411412 1411412 T C rs6347 SLC6A3 Synonymous SNV S405S 0.237 0.224 0.248 78 278 86 0.2 73 27 9 13 4 Benign 4.276 46388 chr9 139617662 139617662 T C rs11849 DIPK1B Synonymous SNV L244L 0.301 0.294 0.32 133 353 113 0.341 94 57 11 14 22 0.009 46389 chr9 139617836 139617836 C T rs6874 DIPK1B Synonymous SNV N302N 0.128 0.117 0.163 72 150 45 0.185 48 4 1 6 10 13.65 46390 chr5 122364538 122364538 T C rs34341374 PPIC Nonsynonymous SNV K86R 0.044 0.023 0.044 24 52 9 0.062 13 1 0 0 1 0.009 46391 chr9 139620637 139620637 G A rs72761016 SNHG7, SNORA17B 0 0 0.163 0 0 0 0 48 0 0 6 0 5.306 46392 chr9 139620695 139620695 C T rs2275161 SNHG7 0 0 0.323 0 0 0 0 95 0 0 16 0 9.154 46393 chr9 139621108 139621108 G - rs138866217 SNHG7 0 0 0.163 0 0 0 0 48 0 0 6 0 46394 chr9 139621120 139621120 A G rs10781513 SNHG7 0 0 0.327 0 0 0 0 96 0 0 16 0 0.879 46395 chr5 10282333 10282333 A G rs115129340 CMBL Synonymous SNV N178N 0.032 0.016 0.031 5 37 6 0.013 9 1 0 0 0 Benign 10.03 46396 chr4 88902851 88902851 T C rs35382133 SPP1 Synonymous SNV T106T 0.009 0.013 0.024 5 10 5 0.013 7 1 0 0 0 0.035 46397 chr5 142150942 142150942 T C rs10042074 ARHGAP26 0.194 0.143 0 69 228 55 0.177 0 27 8 0 7 7.298 46398 chr4 5747063 5747063 G A rs115275195 EVC Nonsynonymous SNV D312N 0.012 0.01 0.003 1 14 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.15 46399 chr5 108294979 108294979 T C rs34869483 FER Synonymous SNV D160D 0.022 0.013 0.01 5 26 5 0.013 3 0 0 0 0 3.276 46400 chr4 89607932 89607932 G A rs7698491 HERC3 Synonymous SNV E733E 0.048 0.049 0.058 9 56 19 0.023 17 3 0 1 1 11.03 46401 chr5 126140522 126140522 T C rs3749830 LMNB1 Synonymous SNV Y138Y 0.077 0.102 0.109 35 90 39 0.09 32 5 3 1 1 Benign 5.885 46402 chr9 139863909 139863909 C T rs11787588 LINC02692 0 0 0.276 0 0 0 0 81 0 0 12 0 10.03 46403 chr4 89671721 89671721 C T rs61737091 FAM13A Synonymous SNV P244P 0.02 0.029 0.027 8 23 11 0.021 8 0 0 1 0 11.49 46404 chr4 89772301 89772301 C A rs7680970 FAM13A Nonsynonymous SNV A293S 0.032 0.036 0.031 24 38 14 0.062 9 0 1 0 0 0.001 46405 chr5 126774225 126774225 C T rs35591368 MEGF10 Synonymous SNV C733C 0.015 0.021 0.027 6 18 8 0.015 8 0 0 0 0 Benign/Likely benign 10.25 46406 chr5 110079450 110079450 T C rs17446534 SLC25A46 Synonymous SNV L116L 0.072 0.083 0.075 22 84 32 0.056 22 5 3 1 0 Benign 3.057 46407 chr5 126791229 126791229 G A rs17164938 MEGF10 Synonymous SNV P1054P 0.015 0.018 0.031 5 18 7 0.013 9 0 0 0 0 Benign/Likely benign 12.32 46408 chr5 112174944 112174944 C T rs377640390 APC Nonsynonymous SNV T1200M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 17.41 46409 chr5 126791282 126791282 G A rs17164935 MEGF10 Nonsynonymous SNV R1072K 0.124 0.086 0.122 51 146 33 0.131 36 12 1 2 4 Benign 10.57 46410 chr4 90169658 90169658 G T rs145319873 GPRIN3 Nonsynonymous SNV A535E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.05 46411 chr5 112176196 112176196 G A rs137988845 APC Synonymous SNV G1617G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 3.21 46412 chr5 126860223 126860223 C T rs61736664 PRRC1 Nonsynonymous SNV A35V 0.011 0.01 0.01 2 13 4 0.005 3 0 0 0 0 24.7 46413 chr9 139981241 139981241 G C rs968732 MAN1B1-DT 0 0 0.969 0 0 0 0 285 0 0 142 0 1.236 46414 chr9 139981242 139981242 T G rs1401557 MAN1B1-DT 0 0 0.969 0 0 0 0 285 0 0 142 0 7.129 46415 chr17 39296183 39296183 C A KRTAP4-6 Nonsynonymous SNV R186L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.9 46416 chr4 22404391 22404391 G A rs61736468 ADGRA3 Nonsynonymous SNV A755V 0.017 0.013 0.003 2 20 5 0.005 1 0 0 0 0 21.4 46417 chr5 146728274 146728274 C T rs113803754 STK32A Synonymous SNV Y163Y 0.008 0 0 5 9 0 0.013 0 0 0 0 0 4.028 46418 chr9 140002995 140002995 C T rs118117962 MAN1B1 Synonymous SNV Y684Y 0.06 0.047 0.068 16 71 18 0.041 20 0 0 1 0 Benign/Likely benign 6.235 46419 chr5 112178492 112178492 C T rs2229994 APC Synonymous SNV L2383L 0.018 0.023 0.031 8 21 9 0.021 9 0 0 0 0 Benign 7.674 46420 chr5 127666298 127666298 C T rs56168072 FBN2 Nonsynonymous SNV E1438K 0.02 0.018 0.01 8 24 7 0.021 3 0 0 0 0 Benign/Likely benign 24.2 46421 chr5 111540145 111540145 T C rs34106638 EPB41L4A Nonsynonymous SNV K435E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 23.7 46422 chr5 112222787 112222787 C T rs34083474 REEP5 Nonsynonymous SNV E149K 0.015 0.021 0.031 7 18 8 0.018 9 0 0 0 0 27.6 46423 chr5 147286013 147286013 A T rs7722926 C5orf46 Nonsynonymous SNV F18I 0.119 0.138 0.17 66 140 53 0.169 50 10 2 5 4 15.71 46424 chr9 140008934 140008934 A G rs11145999 DPP7 Synonymous SNV P54P 0.313 0.336 0.347 140 368 129 0.359 102 82 29 18 32 4.579 46425 chr5 147475388 147475388 C T rs142558269 SPINK5 Nonsynonymous SNV R268C 0.009 0.008 0.024 3 10 3 0.008 7 0 0 0 0 Benign/Likely benign 26.3 46426 chr9 140051238 140051238 A G rs6293 GRIN1 Synonymous SNV P263P 0.272 0.219 0.286 106 319 84 0.272 84 46 9 10 13 Benign 5.694 46427 chr9 140051376 140051376 G A rs1126442 GRIN1 Synonymous SNV V285V 0.273 0.219 0.286 104 321 84 0.267 84 46 9 10 12 Benign 13.91 46428 chr17 39324123 39324123 C T rs143200002 KRTAP4-3 Nonsynonymous SNV R101H 0.026 0.018 0.007 7 30 7 0.018 2 0 0 0 0 17.95 46429 chr4 954885 954885 G T rs77382558 DGKQ Synonymous SNV P893P 0.024 0.023 0.01 7 28 9 0.018 3 0 0 0 0 7.607 46430 chr5 112364689 112364689 T A rs17313892 MCC Nonsynonymous SNV S751C 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 Benign 25.3 46431 chr4 69100200 69100200 A G rs4431295 TMPRSS11B Synonymous SNV P150P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.294 46432 chr9 140077639 140077639 G A rs11549105 ANAPC2 Synonymous SNV R408R 0.258 0.227 0.282 95 303 87 0.244 83 35 10 7 9 9.469 46433 chr4 69107519 69107519 G A rs111464340 TMPRSS11B Synonymous SNV H4H 0 0 0 2 0 0 0.005 0 0 0 0 0 1.919 46434 chr9 140079522 140079522 G A rs11549106 ANAPC2 Synonymous SNV V297V 0.253 0.216 0.289 94 297 83 0.241 85 39 10 7 10 13.66 46435 chr9 140108857 140108857 T C rs73563696 NDOR1 Synonymous SNV S204S 0.186 0.148 0.173 56 218 57 0.144 51 16 4 4 5 0.012 46436 chr9 140127051 140127051 G A rs34372115 SLC34A3 Nonsynonymous SNV R67H 0.126 0.133 0.136 41 148 51 0.105 40 10 2 4 0 Benign 0.018 46437 chr9 140127546 140127546 G C rs35643193 SLC34A3 Nonsynonymous SNV G180A 0.014 0.01 0.034 2 17 4 0.005 10 0 0 0 0 Benign 13.62 46438 chr5 148407893 148407893 C A rs6875902 SH3TC2 Nonsynonymous SNV A468S 0.273 0.271 0.303 121 320 104 0.31 89 43 11 14 16 Benign 0.005 46439 chr4 25417109 25417109 T A rs3214035 ANAPC4 Synonymous SNV I617I 0.092 0.091 0.071 28 108 35 0.072 21 6 1 0 0 12.9 46440 chr9 140242634 140242634 G C rs4078069 EXD3 Synonymous SNV A629A 0.064 0.07 0.088 25 75 27 0.064 26 3 0 0 0 0.318 46441 chr4 98633962 98633962 G A rs149202445 STPG2 Nonsynonymous SNV P403L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 46442 chr4 70799939 70799939 C G rs34698344 CSN1S1 Nonsynonymous SNV L21V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 46443 chr9 140245792 140245792 C T rs58444859 EXD3 Synonymous SNV S454S 0.062 0.068 0.082 25 73 26 0.064 24 3 0 0 0 9.269 46444 chr4 2701409 2701409 G C FAM193A Synonymous SNV L879L 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 11.12 46445 chr5 112769659 112769659 C T rs11953478 TSSK1B Nonsynonymous SNV G293E 0.022 0.023 0.031 7 26 9 0.018 9 0 0 1 0 5.424 46446 chr4 71024463 71024463 G C rs142405912 PRR27 Nonsynonymous SNV G165A 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 0.002 46447 chr4 2930181 2930181 G A rs753120653 ADD1 Synonymous SNV P715P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 46448 chr5 112769997 112769997 C T rs34936289 TSSK1B Synonymous SNV A180A 0.04 0.036 0.041 10 47 14 0.026 12 0 0 1 0 13.65 46449 chr5 112770015 112770015 G T rs35724644 TSSK1B Synonymous SNV T174T 0.04 0.036 0.041 10 47 14 0.026 12 0 0 1 0 9.47 46450 chr4 680036 680036 C G rs758703836 SLC49A3 Nonsynonymous SNV C117S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.003 46451 chr17 39412059 39412059 G A rs181369710 KRTAP9-9 Nonsynonymous SNV R141H 0.015 0.018 0.01 10 18 7 0.026 3 0 0 0 0 22.5 46452 chr5 112868683 112868683 C T rs142475090 YTHDC2 Synonymous SNV A99A 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 19.11 46453 chr9 140510177 140510177 C T rs193253934 ARRDC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 46454 chr5 112899098 112899098 C G rs1016899540 YTHDC2 Nonsynonymous SNV A484G 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 46455 chr4 68704036 68704036 C T rs150193405 TMPRSS11D Nonsynonymous SNV S110N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.204 46456 chr9 140638416 140638416 G A rs1129767 EHMT1 Synonymous SNV S317S 0.163 0.148 0.177 51 191 57 0.131 52 16 4 5 4 Benign 12.61 46457 chr4 3076603 3076603 - CAGCAG HTT Q38_P39insQQ 0.017 0.026 0.007 7 20 10 0.018 2 2 0 1 1 46458 chr5 115823808 115823808 C T SEMA6A Nonsynonymous SNV G247E 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 27.3 46459 chr5 112926755 112926755 G A rs2303718 YTHDC2 Synonymous SNV S981S 0.041 0.039 0.037 10 48 15 0.026 11 0 0 1 0 12.28 46460 chr5 134303704 134303704 G A rs143499103 CATSPER3 Nonsynonymous SNV R8H 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 2.206 46461 chr5 118860938 118860938 T C rs11539471 HSD17B4 Nonsynonymous SNV W493R 0.061 0.06 0.068 26 72 23 0.067 20 3 1 4 0 Benign 20.2 46462 chr9 140777432 140777432 C T rs7863142 LOC100133077 0 0 0.5 0 0 0 0 147 0 0 0 0 7.451 46463 chr9 140786454 140786454 G A LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 0.408 46464 chr9 14720357 14720357 C A rs7036635 CER1 Nonsynonymous SNV V179L 0.018 0.021 0.027 16 21 8 0.041 8 0 0 0 0 24.1 46465 chr17 4535314 4535314 G A rs34210653 ALOX15 Nonsynonymous SNV T560M 0.005 0.003 0.003 7 6 1 0.018 1 0 0 0 0 Benign 29.5 46466 chr9 14720361 14720361 T C rs17289263 CER1 Synonymous SNV E177E 0.096 0.107 0.116 50 113 41 0.128 34 6 2 2 3 0.85 46467 chr9 14722477 14722477 G C rs3747532 CER1 Nonsynonymous SNV A65G 0.277 0.294 0.272 107 325 113 0.274 80 46 16 11 11 0.002 46468 chr17 39525750 39525750 C T rs12450621 KRT33B Nonsynonymous SNV E85K 0.056 0.039 0.088 28 66 15 0.072 26 0 0 1 1 31 46469 chr5 149754519 149754519 G A rs113299143 TCOF1 Synonymous SNV A350A 0.01 0.021 0.003 2 12 8 0.005 1 2 0 0 0 Benign/Likely benign 6.167 46470 chr5 101748741 101748741 G C rs10073333 SLCO6A1 Nonsynonymous SNV P274A 0.083 0.086 0.075 26 98 33 0.067 22 7 2 2 0 23.5 46471 chr5 121356350 121356350 A C rs183268564 SRFBP1 Nonsynonymous SNV Q307P 0.011 0.008 0.017 2 13 3 0.005 5 1 0 0 0 6.884 46472 chr9 14747412 14747412 A G rs4741426 FREM1 Synonymous SNV V439V 0.167 0.169 0.136 54 196 65 0.138 40 13 7 2 4 Benign 0.713 46473 chr5 121356402 121356402 G C rs187982991 SRFBP1 Synonymous SNV G324G 0.01 0.008 0.017 2 12 3 0.005 5 1 0 0 0 2.189 46474 chr5 1213668 1213668 G A rs7732589 SLC6A19 Nonsynonymous SNV V252I 0.141 0.154 0.146 76 166 59 0.195 43 19 6 6 8 Likely benign 11.25 46475 chr5 101774455 101774455 T C rs17150488 SLCO6A1 Nonsynonymous SNV K319R 0.078 0.073 0.071 24 92 28 0.062 21 7 2 2 0 17.86 46476 chr5 121487969 121487969 G A rs72786994 ZNF474 Nonsynonymous SNV R95Q 0.012 0.018 0.014 9 14 7 0.023 4 0 0 0 0 2.105 46477 chr5 149772280 149772280 C G rs1136103 TCOF1 Nonsynonymous SNV P1099R 0.21 0.232 0.231 72 247 89 0.185 68 28 7 5 7 Benign 24.2 46478 chr9 14776027 14776027 C T rs2131880 FREM1 Synonymous SNV A75A 0.157 0.174 0.163 68 184 67 0.174 48 11 3 9 4 Benign 9.988 46479 chr5 115394551 115394551 C T rs6880325 ARL14EPL Synonymous SNV P122P 0.036 0.031 0.034 16 42 12 0.041 10 4 1 0 1 17.1 46480 chr5 13701520 13701520 C T rs370684795 DNAH5 Nonsynonymous SNV G4455D 0.004 0.003 0 9 5 1 0.023 0 0 0 0 1 Uncertain significance 33 46481 chr9 14859296 14859296 G A rs41265310 FREM1 Synonymous SNV T172T 0.014 0.016 0.017 4 16 6 0.01 5 0 0 0 0 Benign 10.09 46482 chr5 115394626 115394626 G T rs6880759 ARL14EPL Synonymous SNV P147P 0.036 0.031 0.007 16 42 12 0.041 2 4 1 0 1 4.646 46483 chr5 122435627 122435627 G A rs1008058 PRDM6 Nonsynonymous SNV A291T 0.125 0.122 0.109 58 147 47 0.149 32 11 1 3 4 23.5 46484 chr5 102894673 102894673 T C rs34468716 NUDT12 Nonsynonymous SNV I217V 0.043 0.034 0.051 27 51 13 0.069 15 3 1 0 0 0.161 46485 chr5 118480316 118480316 G A rs4895362 DMXL1 Nonsynonymous SNV S851N 0.057 0.021 0.068 23 67 8 0.059 20 1 0 1 2 0.001 46486 chr5 1034376 1034376 G A rs756742975 NKD2 Synonymous SNV E119E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.398 46487 chr9 17135115 17135115 C T rs41306071 CNTLN Synonymous SNV L18L 0.283 0.31 0.248 114 332 119 0.292 73 48 18 16 14 10.09 46488 chr4 74719783 74719783 T A rs144390629 PF4V1 Nonsynonymous SNV L87M 0.008 0.016 0.003 5 9 6 0.013 1 0 0 0 1 23.1 46489 chr5 150663655 150663655 C T rs17660011 SLC36A3 Synonymous SNV K308K 0.028 0.034 0.031 11 33 13 0.028 9 2 1 0 0 16.64 46490 chr5 150664183 150664183 G C rs17111902 SLC36A3 Synonymous SNV G266G 0.032 0.034 0.041 11 37 13 0.028 12 2 1 0 0 8.485 46491 chr5 150666843 150666843 A G rs6579846 SLC36A3 Synonymous SNV L224L 0.032 0.034 0.037 11 37 13 0.028 11 2 1 0 0 4.87 46492 chr5 150666946 150666946 C T rs17660042 SLC36A3 Nonsynonymous SNV R190H 0.028 0.034 0.031 11 33 13 0.028 9 2 1 0 0 24.2 46493 chr4 71347139 71347207 ATCTTCCTCAGCTCCACCAGAGACCACAGCTGCCCCACCCACACCTTCTGCAACTACACCAGCTCCACT - MUC7 A237_A259del 0.09 0.104 0.017 29 106 40 0.074 5 5 2 0 0 46494 chr5 150672988 150672988 G T rs150561602 SLC36A3 Nonsynonymous SNV A114D 0.012 0.018 0.007 6 14 7 0.015 2 0 0 0 0 25.5 46495 chr9 20764870 20764870 T C rs10511687 FOCAD Nonsynonymous SNV L166S 0.319 0.331 0.337 125 375 127 0.321 99 60 20 18 24 Benign 14.75 46496 chr5 110096939 110096939 G A rs7724788 SLC25A46 Synonymous SNV E147E 0.102 0.07 0.109 38 120 27 0.097 32 11 1 3 1 Benign 6.113 46497 chr5 150696496 150696496 G A rs10042608 SLC36A2 Nonsynonymous SNV A445V 0.027 0.026 0.027 11 32 10 0.028 8 2 0 0 0 9.811 46498 chr9 20988423 20988423 G A rs117405838 FOCAD Nonsynonymous SNV D1667N 0.009 0 0.01 4 10 0 0.01 3 0 0 0 0 12.54 46499 chr5 122425838 122425838 C T rs557880296 PRDM6 Synonymous SNV L43L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.928 46500 chr4 71888176 71888176 C T rs11544786 DCK Synonymous SNV A100A 0.066 0.076 0.095 20 77 29 0.051 28 3 2 1 1 14.95 46501 chr5 127609633 127609633 G A rs2291628 FBN2 Nonsynonymous SNV S2580L 0.069 0.065 0.065 14 81 25 0.036 19 3 0 1 0 Benign 23.1 46502 chr9 214864 214864 C T rs2236547 DOCK8-AS1 0.242 0.271 0.224 90 284 104 0.231 66 30 17 10 19 Benign 18.96 46503 chr5 127638759 127638759 A G rs11955288 FBN2 Synonymous SNV H1941H 0.088 0.104 0.071 23 103 40 0.059 21 5 0 1 0 Benign 7.372 46504 chr5 137902339 137902339 T C rs1042665 HSPA9 Synonymous SNV K316K 0.282 0.276 0.255 122 331 106 0.313 75 49 15 6 20 7.48 46505 chr9 215296 215296 A G rs73370597 DOCK8-AS1 0.065 0.057 0.051 40 76 22 0.103 15 0 1 1 2 5.518 46506 chr9 21854740 21854740 C T rs10965163 MTAP Synonymous SNV R187R 0.078 0.076 0.095 38 92 29 0.097 28 2 2 1 1 Benign 13.48 46507 chr9 21994262 21994262 G A rs374360796 CDKN2A Synonymous SNV F23F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.64 46508 chr5 127710380 127710380 G A rs760483684 FBN2 Nonsynonymous SNV S679F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 46509 chr9 22447523 22447523 C T rs34336274 DMRTA1 Synonymous SNV A153A 0.034 0.013 0.037 12 40 5 0.031 11 2 0 0 0 22.3 46510 chr9 22451120 22451120 A G rs145718826 DMRTA1 Nonsynonymous SNV K242R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 9.882 46511 chr17 5012935 5012935 A C rs200108859 ZNF232 Nonsynonymous SNV H84Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.005 46512 chr4 74310768 74310768 C G rs41265657 AFP Nonsynonymous SNV L258V 0.033 0.034 0.037 11 39 13 0.028 11 0 0 0 0 17.98 46513 chr9 25677698 25677698 A C rs72631815 TUSC1 Nonsynonymous SNV S208A 0.221 0.211 0.347 104 259 81 0.267 102 44 9 12 17 0.002 46514 chr17 5126768 5126768 G A rs78015303 LOC100130950 0.054 0.063 0.075 32 63 24 0.082 22 1 0 0 1 0.787 46515 chr9 25678122 25678122 G C rs72631814 TUSC1 Synonymous SNV A66A 0.229 0.25 0.299 101 269 96 0.259 88 34 7 9 14 12.69 46516 chr9 26116157 26116157 G A rs12376729 LOC100506422 Synonymous SNV R111R 0.078 0.06 0.078 29 91 23 0.074 23 1 0 0 1 1.483 46517 chr9 2648773 2648773 A G rs6148 VLDLR Synonymous SNV Q648Q 0.204 0.161 0.156 58 239 62 0.149 46 28 4 4 5 Benign/Likely benign 7.948 46518 chr9 27062721 27062721 C T rs3429 IFT74 Nonsynonymous SNV T597I 0.183 0.182 0.187 63 215 70 0.162 55 20 4 3 6 24.2 46519 chr9 27062722 27062722 C T rs191236750 IFT74 Synonymous SNV T597T 0.004 0 0.007 0 5 0 0 2 0 0 0 0 9.816 46520 chr17 5290041 5290041 T G rs200534894 NUP88 Nonsynonymous SNV I733L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.55 46521 chr4 77305744 77305744 C T CCDC158 Synonymous SNV E121E 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 10.52 46522 chr9 27197486 27197486 G T rs35030851 TEK Nonsynonymous SNV V453L 0.072 0.055 0.075 31 85 21 0.079 22 3 0 2 1 Benign 8.398 46523 chr5 13902245 13902245 G C rs139160176 DNAH5 Nonsynonymous SNV N549K 0.01 0.008 0.007 13 12 3 0.033 2 0 0 0 1 Benign/Likely benign 21.4 46524 chr9 27203002 27203002 G A rs45563539 TEK Synonymous SNV Q551Q 0.077 0.055 0.075 32 90 21 0.082 22 4 0 2 1 Benign 6.911 46525 chr17 5421150 5421150 C T rs144711602 NLRP1 Nonsynonymous SNV V1251I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 7.501 46526 chr4 40122453 40122453 C T rs78417585 N4BP2 Nonsynonymous SNV P908S 0.009 0.01 0.01 0 11 4 0 3 0 0 0 0 0.006 46527 chr5 139740454 139740454 C T rs34507975 SLC4A9 Synonymous SNV H96H 0.208 0.227 0.153 88 244 87 0.226 45 28 9 4 12 11.86 46528 chr17 5462171 5462171 G A rs61753140 NLRP1 Synonymous SNV I615I 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Benign/Likely benign 1.768 46529 chr9 286491 286491 G A rs3209441 DOCK8 Nonsynonymous SNV D63N 0.199 0.182 0.15 74 234 70 0.19 44 23 9 2 10 Benign/Likely benign 32 46530 chr9 312124 312124 T C rs2039045 DOCK8 Synonymous SNV N165N 0.193 0.18 0.163 70 226 69 0.179 48 25 10 3 10 Benign 6.406 46531 chr5 151150257 151150257 T - rs11290118 LOC100652758 0.219 0.219 0.122 98 257 84 0.251 36 23 15 5 13 46532 chr4 78079695 78079695 T G rs4150050 CCNG2 Nonsynonymous SNV L4V 0.026 0.026 0.02 14 31 10 0.036 6 0 1 0 1 19.71 46533 chr9 32425910 32425910 A G rs3780473 ACO1 Synonymous SNV E421E 0.296 0.302 0.384 128 348 116 0.328 113 52 16 23 19 7.561 46534 chr5 152871788 152871788 - C rs3841128 GRIA1 Frameshift insertion L11Pfs*13 0.033 0.039 0.044 14 39 15 0.036 13 0 0 0 2 46535 chr5 140021482 140021482 C T rs11554680 TMCO6 Synonymous SNV V114V 0.211 0.221 0.153 82 248 85 0.21 45 27 8 4 10 16.55 46536 chr17 6337248 6337248 G A rs62653020 AIPL1 Synonymous SNV C89C 0 0 0 5 0 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.79 46537 chr9 334337 334337 A G rs10970979 DOCK8 Nonsynonymous SNV N345S 0.356 0.359 0.296 116 418 138 0.297 87 80 28 15 17 Benign 7.69 46538 chr5 140023238 140023238 C G rs17208187 TMCO6 Nonsynonymous SNV T59S 0.212 0.221 0.163 80 249 85 0.205 48 24 10 6 10 0.003 46539 chr5 132556523 132556523 C T rs140221506 FSTL4 Nonsynonymous SNV D459N 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign 23.1 46540 chr9 33625360 33625360 T C rs10971607 ANXA2P2 0 0 0.323 0 0 0 0 95 0 0 15 0 1.977 46541 chr5 132736614 132736614 C T rs17166688 FSTL4 Synonymous SNV R75R 0.031 0.034 0.041 16 36 13 0.041 12 0 0 0 0 18.23 46542 chr5 140048544 140048544 C T rs2286394 WDR55 Nonsynonymous SNV S210F 0.224 0.214 0.173 75 263 82 0.192 51 22 11 5 8 25.2 46543 chr9 33676027 33676027 C A rs855465 PTENP1 0 0 0.112 0 0 0 0 33 0 0 4 0 13.21 46544 chr5 133481467 133481467 G A rs30489 TCF7 Nonsynonymous SNV G256R 0.083 0.078 0.078 27 97 30 0.069 23 5 1 0 2 5.677 46545 chr9 33676094 33676094 C G rs7853346 PTENP1 0 0 0.31 0 0 0 0 91 0 0 14 0 6.344 46546 chr5 1318491 1318491 G A rs33955038 CLPTM1L Nonsynonymous SNV T537M 0.033 0.016 0.034 12 39 6 0.031 10 0 0 0 0 10.77 46547 chr4 41992752 41992752 G C rs16853872 SLC30A9 Synonymous SNV A28A 0.031 0.049 0.031 16 36 19 0.041 9 0 0 0 0 10.53 46548 chr5 132018169 132018169 C A rs2243290 LOC105379176 0.109 0.112 0.082 36 128 43 0.092 24 9 2 0 1 8.693 46549 chr17 6528135 6528135 A G KIAA0753 Synonymous SNV R255R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.597 46550 chr5 140175932 140175932 A G rs111743563 PCDHA2 Synonymous SNV T461T 0.009 0.01 0.003 6 11 4 0.015 1 0 0 0 0 0.04 46551 chr5 140181094 140181094 C T rs251382 PCDHA3 Synonymous SNV I104I 0.009 0.01 0.003 6 11 4 0.015 1 0 0 0 0 10.05 46552 chr4 4276198 4276198 C T rs41264703 LYAR Nonsynonymous SNV G243D 0.047 0.044 0.02 17 55 17 0.044 6 1 1 0 0 8.334 46553 chr9 34568927 34568929 GCG - rs370378077 CNTFR A18del 0 0 0.003 0 0 0 0 1 0 0 0 0 46554 chr5 134870913 134870913 G A rs8192559 NEUROG1 Synonymous SNV P156P 0.06 0.06 0.031 20 71 23 0.051 9 2 4 1 0 2.71 46555 chr9 34622389 34622389 A C rs3808869 ARID3C Nonsynonymous SNV C335G 0.495 0.456 0.49 177 581 175 0.454 144 143 38 35 36 0.016 46556 chr17 40997728 40997728 G A rs755773600 AOC2 Nonsynonymous SNV C362Y 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 21.5 46557 chr9 34637690 34637690 T G rs1800866 SIGMAR1 Nonsynonymous SNV Q2P 0.168 0.174 0.163 73 197 67 0.187 48 18 5 3 7 Benign 8.111 46558 chr5 135216536 135216536 C T rs27426 SLC25A48 Nonsynonymous SNV A155V 0.085 0.063 0 33 100 24 0.085 0 3 0 0 1 4.75 46559 chr5 1338078 1338078 C T rs113203740 CLPTM1L Nonsynonymous SNV V207M 0.013 0.016 0.007 7 15 6 0.018 2 0 0 0 0 23.1 46560 chr4 77818132 77818132 G C rs13140552 SOWAHB Nonsynonymous SNV P291A 0.102 0.094 0.102 42 120 36 0.108 30 9 3 0 5 3.482 46561 chr9 35044493 35044493 T A rs2298312 C9orf131 Nonsynonymous SNV S588T 0.065 0.057 0.058 26 76 22 0.067 17 2 1 0 0 14.36 46562 chr4 44705125 44705125 T C rs34864228 GNPDA2 Synonymous SNV P234P 0.037 0.034 0.058 14 44 13 0.036 17 0 0 0 0 4.216 46563 chr4 79808400 79808400 A G rs200263125 BMP2K Nonsynonymous SNV E675G 0.009 0.005 0.017 5 10 2 0.013 5 0 0 0 0 24.5 46564 chr5 134679181 134679181 G C C5orf66 0.002 0 0 0 2 0 0 0 0 0 0 0 1.39 46565 chr9 35606884 35606884 G A rs2275422 TESK1 Nonsynonymous SNV C15Y 0.405 0.401 0.429 153 475 154 0.392 126 104 28 28 26 8.876 46566 chr9 35658614 35658614 C A rs567100944 CCDC107 Synonymous SNV R50R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 46567 chr17 6980105 6980105 G A rs35318160 CLEC10A Nonsynonymous SNV T100M 0.033 0.031 0.034 27 39 12 0.069 10 0 0 0 1 0.002 46568 chr4 80898808 80898808 C T rs35798108 ANTXR2 Synonymous SNV R465R 0.087 0.07 0.129 31 102 27 0.079 38 7 1 2 1 Benign 15.79 46569 chr17 6980273 6980273 C T rs16956478 CLEC10A Nonsynonymous SNV R73K 0.033 0.036 0.037 27 39 14 0.069 11 0 0 0 1 4.85 46570 chr4 7817823 7817823 G A rs144440612 AFAP1 Synonymous SNV L276L 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 9.397 46571 chr9 35674053 35674053 G A rs2071676 CA9 Nonsynonymous SNV V33M 0.315 0.359 0.374 129 370 138 0.331 110 57 25 20 22 21.9 46572 chr5 123976967 123976967 C T rs7703447 ZNF608 Synonymous SNV P1476P 0.095 0.06 0.058 36 111 23 0.092 17 5 1 0 1 11.48 46573 chr4 80905991 80905991 G T rs72653288 ANTXR2 Synonymous SNV P356P 0.087 0.073 0.119 30 102 28 0.077 35 7 1 2 1 Benign 0.247 46574 chr17 7097670 7097670 G A rs41283393 DLG4 Synonymous SNV T422T 0.033 0.036 0.031 17 39 14 0.044 9 0 0 0 0 14.6 46575 chr9 35801744 35801744 G A rs777466300 NPR2 Nonsynonymous SNV R514H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 46576 chr4 79173616 79173616 C G rs147709711 FRAS1 Nonsynonymous SNV P127R 0.053 0.023 0.01 16 62 9 0.041 3 1 0 0 0 Benign 0.122 46577 chr4 81207708 81207708 C T rs184034246 FGF5 Nonsynonymous SNV T87M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 26.9 46578 chr9 35841783 35841783 G A rs2236293 TMEM8B Nonsynonymous SNV R434Q 0 0 0.466 0 0 0 0 137 0 0 35 0 17.96 46579 chr5 135692743 135692743 C A rs183740585 TRPC7 Synonymous SNV L111L 0.02 0.01 0.031 10 23 4 0.026 9 0 0 0 0 12.99 46580 chr5 123984289 123984289 C T rs143401829 ZNF608 Synonymous SNV S596S 0.007 0.003 0.014 5 8 1 0.013 4 0 0 0 0 11.04 46581 chr9 35957355 35957355 G A rs2233568 OR2S2 Synonymous SNV T247T 0.308 0.268 0.296 104 362 103 0.267 87 53 9 10 13 9.995 46582 chr9 35957669 35957669 T C rs2233564 OR2S2 Nonsynonymous SNV M143V 0.312 0.268 0.293 104 366 103 0.267 86 55 9 9 13 0.001 46583 chr5 1243708 1243708 G A rs74581452 SLC6A18 Synonymous SNV T390T 0.014 0.013 0.024 1 17 5 0.003 7 0 0 0 0 5.269 46584 chr9 35958047 35958047 T C rs2233558 OR2S2 Nonsynonymous SNV R17G 0.313 0.271 0.296 104 368 104 0.267 87 55 9 10 13 6.751 46585 chr5 157098756 157098756 G T rs11740603 C5orf52 Nonsynonymous SNV R45L 0.174 0.174 0.214 70 204 67 0.179 63 13 9 5 12 24.2 46586 chr5 140249855 140249855 G C rs139719896 PCDHA11 Synonymous SNV T389T 0.02 0.034 0.044 12 24 13 0.031 13 0 0 0 0 0.008 46587 chr5 126732399 126732399 G A rs3812055 MEGF10 Synonymous SNV Q196Q 0.106 0.063 0.102 48 125 24 0.123 30 4 1 1 3 Benign 9.525 46588 chr5 126732427 126732427 G A rs3812054 MEGF10 Nonsynonymous SNV V206I 0.089 0.057 0.092 42 104 22 0.108 27 4 1 1 3 Benign 6.54 46589 chr9 36162414 36162414 G A GLIPR2 Nonsynonymous SNV V60I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 46590 chr5 140307002 140307002 G A rs74597681 PCDHAC1 Synonymous SNV S175S 0.02 0.034 0.048 14 24 13 0.036 14 0 0 0 0 9.471 46591 chr17 7188459 7188459 C T rs8192702 SLC2A4 Nonsynonymous SNV A358V 0.003 0.013 0.003 3 4 5 0.008 1 0 0 0 0 22.9 46592 chr5 157106968 157106968 C T rs6892478 C5orf52 Synonymous SNV S147S 0.164 0.164 0.204 68 192 63 0.174 60 13 7 5 12 6.089 46593 chr5 126769146 126769146 T C rs11950427 MEGF10 Synonymous SNV P595P 0.132 0.083 0.102 54 155 32 0.138 30 9 2 2 4 Benign 0.081 46594 chr5 159776637 159776637 C T rs10053189 C1QTNF2 Synonymous SNV K132K 0.445 0.458 0.425 171 522 176 0.438 125 118 39 25 38 10.8 46595 chr9 37436755 37436755 G A rs76299266 GRHPR Synonymous SNV P321P 0.011 0.013 0.01 7 13 5 0.018 3 0 0 0 1 Conflicting interpretations of pathogenicity 14.7 46596 chr5 127622491 127622491 T C rs32209 FBN2 Nonsynonymous SNV M2311V 0.032 0.039 0.031 10 37 15 0.026 9 0 1 0 0 Benign 15.67 46597 chr5 161522556 161522556 C T rs11135176 GABRG2 Synonymous SNV N105N 0.032 0.036 0.054 17 38 14 0.044 16 2 0 0 0 Benign 13.74 46598 chr4 509850 509850 T C rs11726338 PIGG Synonymous SNV S197S 0.029 0.029 0.041 8 34 11 0.021 12 0 0 0 0 Benign 0.039 46599 chr5 127800505 127800505 C T rs150087436 FBN2 Synonymous SNV A246A 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 Benign/Likely benign 17.05 46600 chr17 42141192 42141192 G A rs140825054 LSM12 Synonymous SNV L79L 0.009 0.008 0 1 11 3 0.003 0 1 0 0 0 7.728 46601 chr9 38411411 38411411 C T rs141451278 IGFBPL1 Nonsynonymous SNV D275N 0.019 0.016 0.014 8 22 6 0.021 4 0 0 0 0 14.61 46602 chr5 138728812 138728812 G A PROB1 Synonymous SNV A653A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.49 46603 chr4 83827665 83827665 C G rs139976656 THAP9 Synonymous SNV S155S 0.016 0.016 0 6 19 6 0.015 0 0 0 0 0 13.26 46604 chr17 42393999 42393999 G A rs62640053 RUNDC3A Nonsynonymous SNV M368I 0.01 0.016 0.003 1 12 6 0.003 1 0 0 0 0 22.2 46605 chr4 81123378 81123378 C T rs142234659 PRDM8 Synonymous SNV S254S 0.108 0.109 0.065 48 127 42 0.123 19 6 3 1 2 14.95 46606 chr5 138223203 138223203 G A rs774427164 CTNNA1 Nonsynonymous SNV V20I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.46 46607 chr5 138732748 138732748 T G rs907022219 SPATA24 Nonsynonymous SNV Q157P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 46608 chr5 140719090 140719090 G A rs6861047 PCDHGA2 Synonymous SNV R184R 0.094 0.104 0.105 28 110 40 0.072 31 5 0 3 0 0.286 46609 chr9 4617999 4617999 G C rs41302077 SPATA6L Nonsynonymous SNV H216D 0.056 0.044 0.058 25 66 17 0.064 17 1 1 0 1 17.78 46610 chr4 8416586 8416586 T G rs73211315 ACOX3 Nonsynonymous SNV M150L 0.026 0.021 0.024 13 30 8 0.033 7 0 0 0 0 Benign 0.092 46611 chr9 4625415 4625415 T C rs45463394 SPATA6L Nonsynonymous SNV H103R 0.052 0.036 0.058 25 61 14 0.064 17 1 1 0 1 0.001 46612 chr5 140744841 140744841 A G rs199512708 PCDHGA5 Nonsynonymous SNV Y315C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 25.6 46613 chr4 8418148 8418148 T G rs12513296 ACOX3 Nonsynonymous SNV E34A 0.026 0.021 0.024 13 30 8 0.033 7 0 0 0 0 Benign 20.3 46614 chr5 140745508 140745508 T C PCDHGA5 Synonymous SNV S537S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.006 46615 chr4 54915418 54915418 T C CHIC2 Synonymous SNV K58K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.8 46616 chr5 139197120 139197120 G A rs139242669 PSD2 Synonymous SNV S357S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.15 46617 chr5 139235289 139235289 C T rs773872580 NRG2 Nonsynonymous SNV V356I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 46618 chr9 5762600 5762600 G A rs3739646 RIC1 Synonymous SNV R647R 0.079 0.099 0.061 36 93 38 0.092 18 7 0 0 3 8.499 46619 chr9 5774225 5774225 T G rs3739648 RIC1 Synonymous SNV T1380T 0.288 0.294 0.286 121 338 113 0.31 84 49 18 16 15 3.701 46620 chr5 140772427 140772427 T G rs726684 PCDHGA8 Nonsynonymous SNV L16R 0.109 0.091 0.105 28 128 35 0.072 31 8 2 2 1 22.6 46621 chr9 5832728 5832728 G C rs1131727 ERMP1 Synonymous SNV A100A 0.422 0.398 0.289 157 495 153 0.403 85 110 29 20 33 9.328 46622 chr5 16794780 16794780 G A rs7737765 MYO10 Nonsynonymous SNV H148Y 0.175 0.151 0.163 61 206 58 0.156 48 19 7 4 3 15.57 46623 chr5 138730407 138730407 C T rs73255289 PROB1 Nonsynonymous SNV G122S 0.135 0.161 0.095 39 159 62 0.1 28 11 7 1 1 0.274 46624 chr4 55152040 55152040 C T rs2228230 PDGFRA Synonymous SNV V824V 0.121 0.094 0.092 38 142 36 0.097 27 12 2 2 3 Benign 16.6 46625 chr9 5832849 5832849 G A rs528252782 ERMP1 Nonsynonymous SNV A60V 0.014 0.018 0.007 4 16 7 0.01 2 1 0 0 0 8.686 46626 chr9 5892525 5892525 C T rs2233178 MLANA Synonymous SNV H17H 0.091 0.078 0.068 39 107 30 0.1 20 4 2 0 1 9.143 46627 chr5 139745800 139745800 C G rs34298619 SLC4A9 Nonsynonymous SNV A592G 0.023 0.008 0.014 13 27 3 0.033 4 0 0 0 0 24.4 46628 chr5 167957055 167957055 G A rs12654410 FBLL1 Synonymous SNV S182S 0.12 0.12 0.177 55 141 46 0.141 52 7 1 5 3 17.56 46629 chr5 168093522 168093522 G A rs1048307 SLIT3 Synonymous SNV D1510D 0.135 0.122 0.18 68 159 47 0.174 53 8 2 5 7 14.78 46630 chr5 132009811 132009811 C T rs201843425 IL4 Synonymous SNV H23H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.537 46631 chr5 140798639 140798639 G C rs17208397 PCDHGB7 Nonsynonymous SNV V405L 0.097 0.091 0.105 28 114 35 0.072 31 4 2 3 0 22.3 46632 chr5 168135041 168135041 G A rs62377322 SLIT3 Synonymous SNV N935N 0.008 0.008 0.014 8 9 3 0.021 4 0 0 0 0 14.04 46633 chr9 6589230 6589230 C T rs121964976 GLDC Synonymous SNV R515R 0.051 0.039 0.051 10 60 15 0.026 15 0 0 0 0 Benign/Likely benign 11.73 46634 chr5 140856265 140856265 G C rs2075661 PCDHGC3 Synonymous SNV A194A 0.114 0.102 0.126 35 134 39 0.09 37 10 3 4 1 10.25 46635 chr9 69002274 69002274 G T rs768722369 MIR1299 0 0 0.139 0 0 0 0 41 0 0 0 0 3.507 46636 chr9 69002276 69002276 C G rs776919630 MIR1299 0 0 0.143 0 0 0 0 42 0 0 0 0 4.174 46637 chr9 69002283 69002283 A T rs773681988 MIR1299 0 0 0.136 0 0 0 0 40 0 0 0 0 2.469 46638 chr4 8443139 8443139 C G rs112997829 TRMT44 Nonsynonymous SNV T197R 0.026 0.021 0.017 15 30 8 0.038 5 0 0 0 1 0.557 46639 chr5 139939961 139939961 G A rs61736940 APBB3 Synonymous SNV C394C 0.057 0.026 0.024 17 67 10 0.044 7 2 0 0 0 6.135 46640 chr9 69002294 69002294 C T rs79965448 MIR1299 0 0 0.5 0 0 0 0 147 0 0 0 0 7.927 46641 chr9 69002295 69002295 G A rs200401671 MIR1299 0 0 0.133 0 0 0 0 39 0 0 0 0 6.243 46642 chr5 140870516 140870516 A G rs2074912 PCDHGC5 Nonsynonymous SNV D570G 0.114 0.104 0.122 35 134 40 0.09 36 9 3 4 0 0.568 46643 chr9 69002304 69002304 C G rs78546776 MIR1299 0 0 0.078 0 0 0 0 23 0 0 0 0 3.817 46644 chr4 8451559 8451559 A T rs73211375 TRMT44 Nonsynonymous SNV M59L 0.026 0.029 0.02 21 31 11 0.054 6 0 0 0 1 0.003 46645 chr9 69002317 69002317 T C rs76266132 MIR1299 0 0 0.5 0 0 0 0 147 0 0 0 0 2.679 46646 chr5 132408967 132408967 G A rs61755724 HSPA4 Nonsynonymous SNV A159T 0.021 0.031 0.027 10 25 12 0.026 8 0 0 0 0 32 46647 chr5 140870949 140870949 G T rs918558 PCDHGC5 Synonymous SNV A714A 0.114 0.104 0.122 35 134 40 0.09 36 9 3 4 0 13.38 46648 chr5 140871425 140871425 A G rs17208425 PCDHGC5 Nonsynonymous SNV E873G 0.114 0.104 0.122 34 134 40 0.087 36 9 3 4 0 8.073 46649 chr5 133901929 133901929 A G JADE2 Nonsynonymous SNV S365G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 46650 chr4 8467157 8467157 A G rs34873641 TRMT44 Nonsynonymous SNV I214V 0.026 0.021 0.02 15 30 8 0.038 6 0 0 0 1 0.002 46651 chr9 71509317 71509317 A T rs140619979 PIP5K1B Synonymous SNV S178S 0.007 0.01 0.007 5 8 4 0.013 2 0 0 0 0 0.497 46652 chr9 71549957 71549957 A G rs41288745 PIP5K1B Synonymous SNV E451E 0.018 0.023 0.031 12 21 9 0.031 9 1 0 0 0 9.91 46653 chr5 139422531 139422531 - GCTGCTGCT rs755892351 NRG2 S41_E42insSSS 0.01 0.013 0 5 12 5 0.013 0 0 0 0 0 46654 chr4 8589023 8589023 G A rs9685931 GPR78 Nonsynonymous SNV R342H 0.087 0.086 0.099 31 102 33 0.079 29 4 2 1 2 0.004 46655 chr9 72131577 72131577 A C rs34788368 APBA1 Nonsynonymous SNV S184A 0.1 0.099 0.112 42 117 38 0.108 33 5 4 2 4 0.167 46656 chr17 45673812 45673812 A G rs200095837 NPEPPS Nonsynonymous SNV Y507C 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 22 46657 chr5 169810796 169810796 C T rs11739136 KCNMB1 Nonsynonymous SNV E65K 0.101 0.115 0.122 41 119 44 0.105 36 7 0 0 4 protective 22.3 46658 chr5 141336635 141336635 G A rs151002555 PCDH12 Nonsynonymous SNV T261M 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 Likely benign 27 46659 chr4 8583231 8583231 C A rs61741008 GPR78 Synonymous SNV A174A 0.001 0.005 0 8 1 2 0.021 0 0 0 0 0 9.757 46660 chr5 140168068 140168068 G A rs61743798 PCDHA1 Synonymous SNV A731A 0.015 0.023 0.003 7 18 9 0.018 1 0 0 0 0 7.923 46661 chr4 57516849 57516849 C T rs76451666 HOPX Nonsynonymous SNV E110K 0.095 0.068 0.082 25 112 26 0.064 24 2 0 1 1 13.28 46662 chr5 142661490 142661490 A G rs6196 NR3C1 Synonymous SNV N766N 0.069 0.07 0.058 20 81 27 0.051 17 3 1 0 0 Benign 0.111 46663 chr5 17275936 17275936 C G rs148597377 BASP1 Nonsynonymous SNV A204G 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 16.72 46664 chr9 74305069 74305069 C G rs369850672 CEMIP2 Nonsynonymous SNV V1201L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 46665 chr9 74360096 74360096 C T rs25689 CEMIP2 Nonsynonymous SNV R291H 0.181 0.211 0.184 49 213 81 0.126 54 19 6 7 3 23.2 46666 chr5 174937193 174937193 C T rs2662170 SFXN1 Synonymous SNV D139D 0.168 0.164 0.17 68 197 63 0.174 50 19 2 4 6 11.84 46667 chr5 13716797 13716797 A G rs61744054 DNAH5 Synonymous SNV G4236G 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign 0.01 46668 chr9 74360209 74360209 G C rs3739783 CEMIP2 Synonymous SNV P253P 0.125 0.12 0.109 35 147 46 0.09 32 11 3 4 0 0.029 46669 chr9 74671719 74671719 T C rs13295099 C9orf57 Synonymous SNV K18K 0.5 0.497 0.52 180 587 191 0.462 153 155 51 34 49 0.003 46670 chr9 74865703 74865703 C T rs41310055 GDA Nonsynonymous SNV P467S 0.03 0.021 0.037 19 35 8 0.049 11 1 0 0 0 6.005 46671 chr5 140238124 140238124 T A rs62384480 PCDHA10 Nonsynonymous SNV F831I 0.026 0.036 0.024 11 31 14 0.028 7 1 3 0 2 5.12 46672 chr4 87968524 87968524 G A rs2230858 AFF1 Synonymous SNV Q272Q 0.052 0.042 0.048 23 61 16 0.059 14 1 0 1 1 4.071 46673 chr9 75775235 75775235 A G rs1050305 ANXA1 Synonymous SNV L109L 0.09 0.073 0.088 36 106 28 0.092 26 2 2 3 2 8.26 46674 chr5 140248539 140248539 C T rs192231 LOC112267934 0.427 0.393 0 163 501 151 0.418 0 130 37 0 39 11.18 46675 chr4 88116518 88116518 A G rs74604071 KLHL8 Synonymous SNV L58L 0.026 0.023 0.02 19 31 9 0.049 6 0 0 1 1 7.241 46676 chr9 77376633 77376633 A G rs2274925 TRPM6 Synonymous SNV N1583N 0.085 0.063 0.095 32 100 24 0.082 28 3 0 1 2 Benign 0.129 46677 chr5 176011889 176011889 G A rs4868660 CDHR2 Synonymous SNV A869A 0.398 0.38 0.401 185 467 146 0.474 118 93 27 30 47 6.216 46678 chr9 77376647 77376647 T C rs2274924 TRPM6 Nonsynonymous SNV K1579E 0.185 0.164 0.255 63 217 63 0.162 75 17 4 9 6 Benign 17.28 46679 chr4 87674183 87674183 G A rs61757792 PTPN13 Nonsynonymous SNV G1063E 0.01 0.005 0.017 6 12 2 0.015 5 0 0 0 0 Benign 16.11 46680 chr5 147012291 147012291 G A rs3763094 JAKMIP2 Synonymous SNV D555D 0.188 0.193 0.197 68 221 74 0.174 58 25 10 4 6 12.36 46681 chr5 147024509 147024509 C T rs2116765 JAKMIP2 Synonymous SNV R287R 0.198 0.211 0.224 72 232 81 0.185 66 29 11 5 8 16.9 46682 chr5 147466001 147466001 G A rs17860502 SPINK5 Nonsynonymous SNV D106N 0.025 0.029 0.007 8 29 11 0.021 2 0 0 0 2 Benign 7.06 46683 chr17 8193941 8193941 C T rs199925223 SLC25A35 Nonsynonymous SNV G240D 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 13.11 46684 chr17 46862395 46862395 C G TTLL6 Nonsynonymous SNV D337H 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 23.9 46685 chr5 176637192 176637192 T C rs28932176 NSD1 Synonymous SNV L598L 0.034 0.026 0.027 18 40 10 0.046 8 0 0 0 0 Benign 0.003 46686 chr5 147480080 147480080 G A rs2303064 SPINK5 Nonsynonymous SNV D386N 0.158 0.143 0.139 57 186 55 0.146 41 19 6 3 7 Benign 23.5 46687 chr4 628493 628493 G A rs115775983 PDE6B Nonsynonymous SNV E166K 0.005 0.008 0.02 4 6 3 0.01 6 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 46688 chr4 89052323 89052323 G T rs2231142 ABCG2 Nonsynonymous SNV Q141K 0.063 0.063 0.095 23 74 24 0.059 28 1 0 1 1 drug response 18.2 46689 chr5 176831544 176831544 G A rs41309752 F12 Synonymous SNV A252A 0.03 0.016 0.017 8 35 6 0.021 5 0 0 1 0 Benign 11.76 46690 chr5 147492461 147492461 T C rs17718737 SPINK5 Synonymous SNV A617A 0.023 0.021 0.007 8 27 8 0.021 2 0 0 0 2 Benign 0.485 46691 chr5 147494051 147494051 T C rs1000813415 SPINK5 Nonsynonymous SNV F672L 0.003 0.008 0 4 4 3 0.01 0 0 0 0 2 16.22 46692 chr9 79324408 79324408 T C rs41289953 PRUNE2 Nonsynonymous SNV K928E 0.062 0.07 0.054 32 73 27 0.082 16 4 2 0 1 0.076 46693 chr5 147506593 147506593 A G rs17705005 SPINK5 Nonsynonymous SNV H972R 0.013 0.01 0.007 6 15 4 0.015 2 0 0 0 2 Benign 12.37 46694 chr9 80049298 80049298 C T rs1801258 GNA14 Synonymous SNV S150S 0.296 0.315 0.299 134 347 121 0.344 88 51 16 15 23 15.74 46695 chr9 80879149 80879149 C T rs1057650 CEP78 Synonymous SNV I515I 0.103 0.091 0.088 30 121 35 0.077 26 7 2 0 0 Benign 16.08 46696 chr5 140763951 140763951 C A rs142665639 PCDHGA7 Synonymous SNV T495T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.043 46697 chr5 140730384 140730384 G T rs62378414 PCDHGB1 Nonsynonymous SNV S186I 0.031 0.044 0.041 21 36 17 0.054 12 0 1 1 1 10.98 46698 chr5 139939929 139939929 C T rs148009989 APBB3 Nonsynonymous SNV G405E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.92 46699 chr4 96091414 96091414 C T rs34585936 UNC5C Nonsynonymous SNV A841T 0.042 0.036 0.02 26 49 14 0.067 6 0 1 0 2 33 46700 chr4 663916 663916 C A rs61760239 PDE6B Synonymous SNV T455T 0.026 0.023 0.054 15 30 9 0.038 16 0 0 0 0 Benign/Likely benign 3.276 46701 chr9 86327898 86327898 C T rs10119344 LOC105376114 0 0 0.735 0 0 0 0 216 0 0 81 0 1.209 46702 chr5 140779363 140779363 C T rs62621781 PCDHGB5 Nonsynonymous SNV R557W 0.009 0.018 0.007 6 11 7 0.015 2 0 0 0 0 0.117 46703 chr5 178358950 178358950 A G rs34499286 ZFP2 Synonymous SNV K212K 0.076 0.039 0.078 36 89 15 0.092 23 1 0 0 2 1.587 46704 chr9 88248222 88248222 A C AGTPBP1 Nonsynonymous SNV V509G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 46705 chr5 139946888 139946888 G A rs61745336 SLC35A4 Nonsynonymous SNV R45Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.793 46706 chr9 89699193 89699193 C G rs11141677 LOC494127 0 0 0.286 0 0 0 0 84 0 0 14 0 12.29 46707 chr5 140019139 140019139 C G rs142951190 TMCO6 Synonymous SNV L9L 0.003 0 0.007 0 3 0 0 2 1 0 0 0 4.206 46708 chr5 178410213 178410213 T C rs17078877 GRM6 Nonsynonymous SNV M712V 0.057 0.039 0.051 30 67 15 0.077 15 4 0 0 2 not provided 0.084 46709 chr9 90388539 90388539 T A rs10735592 CTSL3P 0 0 0.673 0 0 0 0 198 0 0 65 0 7.898 46710 chr5 140795128 140795128 T C rs11575963 PCDHGA10 Nonsynonymous SNV S796P 0.07 0.07 0.102 36 82 27 0.092 30 3 2 3 1 18.67 46711 chr5 140745719 140745719 C T rs62378419 PCDHGA5 Synonymous SNV L608L 0.033 0.047 0.044 21 39 18 0.054 13 0 1 1 1 9.407 46712 chr4 952207 952207 G A rs375719692 TMEM175 Nonsynonymous SNV A398T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.992 46713 chr5 140057509 140057509 C T rs147288996 HARS Nonsynonymous SNV G91D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 34 46714 chr9 93606309 93606309 G A rs35758162 SYK Synonymous SNV Q43Q 0.202 0.18 0.19 74 237 69 0.19 56 24 6 4 8 6.549 46715 chr5 140750597 140750597 C T rs62378420 PCDHGB3 Synonymous SNV L212L 0.034 0.047 0.048 22 40 18 0.056 14 0 1 1 1 3.97 46716 chr5 140071240 140071240 C G rs186043734 HARS2 Nonsynonymous SNV L3V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.13 46717 chr4 984958 984958 G A rs36095812 SLC26A1 Synonymous SNV I178I 0.019 0.018 0.01 8 22 7 0.021 3 0 0 0 0 Benign 4.118 46718 chr5 140751696 140751696 C A rs62620756 PCDHGB3 Nonsynonymous SNV P579T 0.034 0.047 0.048 22 40 18 0.056 14 0 1 1 1 24.3 46719 chr5 140080460 140080460 C T rs145640336 ZMAT2 Synonymous SNV A25A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 21.3 46720 chr5 178418555 178418555 C A rs17078894 GRM6 Nonsynonymous SNV V243F 0.023 0.023 0 10 27 9 0.026 0 0 0 0 0 Benign/Likely benign 29.1 46721 chr5 140167295 140167295 A G rs150635079 PCDHA1 Nonsynonymous SNV I474V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 21.3 46722 chr9 95380726 95380726 G A rs2148537 LOC100128361 0 0 0.231 0 0 0 0 68 0 0 8 0 2.8 46723 chr5 178455127 178455127 C G ZNF879 Synonymous SNV L85L 0.001 0.01 0 0 1 4 0 0 0 0 0 0 0.559 46724 chr5 178459283 178459283 A G rs17078988 ZNF879 Nonsynonymous SNV T112A 0.199 0.214 0.197 81 234 82 0.208 58 31 10 3 10 0.001 46725 chr5 140866832 140866832 G C rs144347539 PCDHGC4 Nonsynonymous SNV V698L 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 21.2 46726 chr17 10366693 10366693 C T rs111672577 MYH4 Nonsynonymous SNV G256D 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 27.6 46727 chr5 178459426 178459426 A C rs17078991 ZNF879 Nonsynonymous SNV E159D 0.199 0.214 0.194 81 234 82 0.208 57 31 10 3 10 5.473 46728 chr4 99393736 99393736 T A rs1128512 TSPAN5 Synonymous SNV I248I 0.032 0.052 0.041 26 38 20 0.067 12 2 0 0 0 15.6 46729 chr4 96166270 96166270 C T rs35120448 UNC5C Synonymous SNV T267T 0.051 0.039 0.048 18 60 15 0.046 14 1 0 0 1 17.44 46730 chr5 178634547 178634547 G A rs66565583 ADAMTS2 Synonymous SNV H286H 0.2 0.19 0.207 67 235 73 0.172 61 20 7 5 6 Benign 11.16 46731 chr5 141035248 141035248 A G rs2306340 ARAP3 Synonymous SNV P1350P 0.065 0.055 0.102 29 76 21 0.074 30 1 1 2 1 3.864 46732 chr5 178772229 178772229 - GCGGCGGCGGCGGCGGCAGGA rs1064794627 ADAMTS2 P33_P34insLLPPPPP 0.001 0 0 2 1 0 0.005 0 0 0 0 1 46733 chr5 179192580 179192580 G A rs113636707 MAML1 Nonsynonymous SNV R190H 0.008 0.016 0.003 1 9 6 0.003 1 0 0 0 0 Likely benign 21.3 46734 chr5 141052416 141052416 G T rs1057371 ARAP3 Synonymous SNV P390P 0.083 0.078 0.126 40 98 30 0.103 37 2 1 2 3 0.013 46735 chr17 53342920 53342920 G A rs140492413 HLF Synonymous SNV L25L 0.027 0.018 0.01 9 32 7 0.023 3 0 0 0 0 Benign 12.5 46736 chr9 97329822 97329822 A G rs2987883 PCAT7 0 0 0.357 0 0 0 0 105 0 0 21 0 4.696 46737 chr17 53471887 53471887 G A rs368712836 MMD Synonymous SNV T175T 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 0.16 46738 chr17 53844769 53844769 A G rs149452285 PCTP Nonsynonymous SNV Y72C 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 21.4 46739 chr9 97369151 97369151 G A rs1042144 FBP1 Synonymous SNV A217A 0.233 0.232 0.255 99 274 89 0.254 75 34 12 11 7 Benign 13.24 46740 chr5 140235812 140235812 A C rs149352769 PCDHA10 Nonsynonymous SNV Q60P 0.006 0 0.007 0 7 0 0 2 2 0 0 0 2.149 46741 chr5 179228377 179228377 G A rs113756550 MGAT4B Nonsynonymous SNV P187L 0.013 0.021 0.01 5 15 8 0.013 3 1 0 0 1 23 46742 chr5 141324966 141324966 - GCTGCTGCTGCTGCTGCC rs532090538 PCDH12 S1178_S1179insGSSSSS 0.018 0.016 0.007 2 21 6 0.005 2 0 0 0 0 46743 chr5 141248437 141248437 G A rs142655578 PCDH1 Synonymous SNV N216N 0.005 0.013 0.024 4 6 5 0.01 7 0 1 0 0 10.96 46744 chr5 179228893 179228893 G C rs11547064 MGAT4B Synonymous SNV L73L 0.013 0.023 0.031 6 15 9 0.015 9 1 0 0 1 8.914 46745 chr9 98268765 98268765 G A rs1805153 PTCH1 Synonymous SNV L106L 0.02 0.016 0.017 5 24 6 0.013 5 0 0 0 0 Benign/Likely benign 14 46746 chr9 98870889 98870889 T A rs4385587 LOC158434 0.137 0.133 0.15 37 161 51 0.095 44 11 3 3 1 9.235 46747 chr9 99012277 99012277 C T rs407179 HSD17B3-AS1 0 0 0.31 0 0 0 0 91 0 0 13 0 3.104 46748 chr5 140237301 140237301 C T rs139533789 PCDHA10 Synonymous SNV D556D 0.006 0 0.007 0 7 0 0 2 2 0 0 0 7.658 46749 chr9 99250463 99250463 C T rs7030316 HABP4 Synonymous SNV L364L 0.175 0.151 0.194 83 205 58 0.213 57 14 7 5 6 12.34 46750 chrM 2354 2354 C T RNR2 0 0 0.738 0 0 0 0 217 0 0 108 0 46751 chrM 2485 2485 C T RNR2 0 0 0.867 0 0 0 0 255 0 0 127 0 46752 chrUn_gl000220 118145 118145 C - RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.425 0 0 0 0 125 0 0 5 0 46753 chrUn_gl000220 118257 118257 G A RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.983 0 0 0 0 289 0 0 144 0 46754 chrUn_gl000220 118545 118545 T G RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.241 0 0 0 0 71 0 0 16 0 46755 chrUn_gl000220 122573 122573 A G LOC100507412 0 0 0.262 0 0 0 0 77 0 0 0 0 46756 chr5 141334921 141334921 C T rs2434322 PCDH12 Synonymous SNV Q832Q 0.095 0.104 0.105 36 112 40 0.092 31 8 3 3 3 10.38 46757 chrUn_gl000220 124792 124792 - GGGCG LOC100507412 0 0 0.207 0 0 0 0 61 0 0 0 0 46758 chr5 140237496 140237496 T C rs144216608 PCDHA10 Synonymous SNV F621F 0.006 0 0.007 0 7 0 0 2 2 0 0 0 0.116 46759 chrX 100242536 100242536 C T rs41307262 ARL13A Nonsynonymous SNV S215L 0.112 0.156 0.153 47 132 60 0.121 45 30 19 14 13 7.116 46760 chr5 1074696 1074696 G A rs12515358 SLC12A7 Synonymous SNV H686H 0.05 0.034 0.041 25 59 13 0.064 12 1 0 1 1 1.976 46761 chrX 100395663 100395663 G T rs2273380 CENPI Synonymous SNV V493V 0.27 0.247 0.197 99 317 95 0.254 58 86 28 23 33 8.248 46762 chrX 100531414 100531419 TCATCC - rs199759165 TAF7L E267_D268del 0.235 0.266 0.19 89 276 102 0.228 56 82 34 21 32 46763 chr5 140237853 140237853 T C rs185767188 PCDHA10 Synonymous SNV S740S 0.006 0 0.007 0 7 0 0 2 2 0 0 0 0.459 46764 chrX 100532621 100532621 T C rs35899692 TAF7L Nonsynonymous SNV S222G 0.148 0.161 0.221 69 174 62 0.177 65 48 17 24 24 0.002 46765 chr5 140237880 140237880 G A rs190932191 PCDHA10 Synonymous SNV S749S 0.006 0 0.007 0 7 0 0 2 2 0 0 0 7.172 46766 chrX 100547933 100547933 A G rs5951328 TAF7L Nonsynonymous SNV L34P 0.994 0.995 0.99 385 1167 382 0.987 291 582 191 145 190 0.027 46767 chr5 140248870 140248870 A C rs201493000 PCDHA11 Nonsynonymous SNV Q61P 0.004 0 0.007 0 5 0 0 2 0 0 0 0 1.228 46768 chrX 100608191 100608191 G A rs1135363 BTK Synonymous SNV C457C 0.14 0.161 0.099 46 164 62 0.118 29 40 18 9 15 Benign 2.268 46769 chr5 141337177 141337177 G C rs138689340 PCDH12 Nonsynonymous SNV D80E 0.025 0.008 0.024 16 29 3 0.041 7 1 0 0 1 0.002 46770 chrX 100645467 100645467 T C rs5951308 BTK Nonsynonymous SNV E24G 0.137 0.159 0.099 52 161 61 0.133 29 38 19 10 19 Benign 1.736 46771 chrX 100748078 100748078 A G rs5991911 ARMCX4 Nonsynonymous SNV D1501G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.103 46772 chr5 140255356 140255356 C T rs182160950 PCDHA12 Nonsynonymous SNV A100V 0.009 0 0.007 5 11 0 0.013 2 0 0 0 0 11.21 46773 chrX 10085674 10085674 T C rs6530368 WWC3 Synonymous SNV D525D 0.874 0.854 0.881 347 1026 328 0.89 259 476 153 125 167 0.055 46774 chrX 100911066 100911066 C T rs3850315 ARMCX2 Synonymous SNV Q503Q 0.911 0.906 0.922 358 1069 348 0.918 271 504 167 129 173 7.068 46775 chr5 140255366 140255366 T C rs187904552 PCDHA12 Synonymous SNV S103S 0.009 0 0.007 6 11 0 0.015 2 0 0 0 0 3.242 46776 chrX 101138792 101138792 T C rs5944882 ZMAT1 Nonsynonymous SNV Q536R 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.034 46777 chr5 140255408 140255408 C T rs199848124 PCDHA12 Synonymous SNV F117F 0.004 0 0.007 0 5 0 0 2 0 0 0 0 13.13 46778 chrX 102564583 102564583 A G rs7557 BEX2 Synonymous SNV L140L 0.683 0.628 0.684 245 802 241 0.628 201 340 96 87 106 2.225 46779 chrX 102978806 102978806 G C rs5945807 GLRA4 0.407 0.411 0.367 150 478 158 0.385 108 159 52 43 55 0.814 46780 chr17 15930690 15930690 C T rs192522753 TTC19 Stop gain R226X 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 41 46781 chr5 140256468 140256468 G C rs192756440 PCDHA12 Nonsynonymous SNV G471R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 27.6 46782 chrX 102979486 102979486 T C rs4907817 GLRA4 0.991 0.974 0.983 382 1163 374 0.979 289 579 184 142 189 7.056 46783 chr5 179744009 179744009 T G rs2112594 GFPT2 Synonymous SNV S336S 0.191 0.18 0.177 73 224 69 0.187 52 20 7 6 9 0.137 46784 chr17 56270442 56270442 A G rs11079339 EPX Nonsynonymous SNV I40M 0.112 0.115 0.102 38 131 44 0.097 30 7 5 3 3 0.461 46785 chrX 103267865 103267865 C T rs553509 H2BW1 Nonsynonymous SNV R123H 0.681 0.69 0.718 278 799 265 0.713 211 330 110 95 123 9.03 46786 chr5 140256675 140256675 G T rs201209762 PCDHA12 Nonsynonymous SNV A540S 0.004 0 0.007 0 5 0 0 2 0 0 0 0 2.216 46787 chr5 180039606 180039606 C T rs1130379 FLT4 Nonsynonymous SNV R1146H 0.086 0.091 0.048 30 101 35 0.077 14 5 1 0 1 Benign 14.06 46788 chrX 103294760 103294760 C T rs2301384 H2BW2 Stop gain Q73X 0.4 0.419 0.507 158 470 161 0.405 149 162 54 58 58 23.5 46789 chr5 140256677 140256677 C T rs200462899 PCDHA12 Synonymous SNV A540A 0.004 0 0.007 0 5 0 0 2 0 0 0 0 7.765 46790 chr5 102343291 102343291 C A rs34746026 PAM Synonymous SNV T608T 0.007 0.005 0.007 6 8 2 0.015 2 0 0 0 0 18.85 46791 chrX 104464277 104464277 A - rs375033944 TEX13A, TEX13A V200Gfs*153 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 46792 chr5 140257325 140257325 G C rs189370080 PCDHA12 Nonsynonymous SNV Q756H 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.239 46793 chrX 104464282 104464282 C - rs367644904 TEX13A 1 1 0.969 389 1174 384 0.997 285 587 192 142 194 46794 chrX 105153001 105153001 A G rs209372 NRK Synonymous SNV K456K 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.007 46795 chr5 140257401 140257401 G A rs146522449 PCDHA12 Nonsynonymous SNV D782N 0.004 0 0.007 0 5 0 0 2 0 0 0 0 18.96 46796 chrX 105278361 105278361 C A rs1804495 SERPINA7 Nonsynonymous SNV L303F 0.138 0.133 0.129 50 162 51 0.128 38 36 12 12 13 Pathogenic 23.8 46797 chr5 180057293 180057293 T C rs34221241 FLT4 Nonsynonymous SNV N149D 0.083 0.078 0.058 34 97 30 0.087 17 4 0 0 2 Benign 4.847 46798 chr17 56389732 56389732 T C rs9913145 TSPOAP1 Nonsynonymous SNV Q757R 0.078 0.07 0.061 29 92 27 0.074 18 4 1 0 1 0.003 46799 chr5 140262168 140262168 C T rs143956549 PCDHA13 Synonymous SNV H105H 0.004 0 0.007 0 5 0 0 2 0 0 0 0 10.56 46800 chrX 106200202 106200202 G A rs6622126 MORC4 Nonsynonymous SNV T473I 0.395 0.393 0.503 167 464 151 0.428 148 152 54 60 66 0.016 46801 chr5 140263649 140263649 C A rs150717183 PCDHA13 Nonsynonymous SNV A599D 0.004 0 0.007 0 5 0 0 2 0 0 0 0 26.2 46802 chrX 106846477 106846477 A G rs41304446 FRMPD3 Synonymous SNV Q1769Q 0.032 0.034 0.031 6 38 13 0.015 9 9 2 3 1 0.012 46803 chr17 17070001 17070001 C T rs113660434 MPRIP Nonsynonymous SNV T1731M 0.009 0.018 0 9 11 7 0.023 0 0 0 0 0 1.677 46804 chrX 107418906 107418906 A G rs4623610 COL4A6 Synonymous SNV R936R 1 0.995 0.99 389 1174 382 0.997 291 587 191 145 194 Benign 0.027 46805 chr5 140263892 140263892 C T rs144612735 PCDHA13 Nonsynonymous SNV S680L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 10.04 46806 chrX 107426982 107426982 - CTT rs146680910 COL4A6 E657_V658insK 0.78 0.789 0.803 303 916 303 0.777 236 408 134 109 137 46807 chrX 107433688 107433688 A G rs1042065 COL4A6 Nonsynonymous SNV S454P 0.79 0.786 0.803 303 927 302 0.777 236 415 134 109 137 Benign 11.71 46808 chr5 140306489 140306489 T G rs150445810 PCDHAC1 Nonsynonymous SNV C4W 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.848 46809 chr5 145519821 145519821 G A rs17493851 LARS1 Synonymous SNV D652D 0.17 0.169 0.167 77 199 65 0.197 49 23 6 7 10 Benign 4.051 46810 chrX 108708516 108708516 C T rs502209 GUCY2F Nonsynonymous SNV R296Q 0.774 0.789 0.81 277 909 303 0.71 238 398 135 112 118 20.7 46811 chr5 140306729 140306729 A G rs116743674 PCDHAC1 Synonymous SNV E84E 0.004 0 0.007 0 5 0 0 2 0 0 0 0 8.857 46812 chrX 108868153 108868153 G A rs17003955 KCNE5 Nonsynonymous SNV P33S 0.193 0.169 0.136 77 226 65 0.197 40 66 21 14 25 0.001 46813 chr5 180335671 180335671 G A rs249355 BTNL8 Synonymous SNV K45K 0.118 0.109 0.102 38 139 42 0.097 30 10 2 2 4 9.91 46814 chrX 109694685 109694685 T A rs2073787 RTL9 Synonymous SNV G280G 0.325 0.326 0.384 142 382 125 0.364 113 119 37 47 47 0.014 46815 chr5 140307491 140307491 C T rs116016831 PCDHAC1 Synonymous SNV P338P 0.004 0 0.007 0 5 0 0 2 0 0 0 0 1.252 46816 chrX 109931856 109931856 T C rs5943053 CHRDL1 Synonymous SNV K238K 0.358 0.331 0.374 139 420 127 0.356 110 137 39 46 47 Benign 3.491 46817 chr5 145834625 145834625 C T rs78837032 TCERG1 Synonymous SNV A22A 0.014 0.021 0.027 12 16 8 0.031 8 1 0 0 0 13.97 46818 chr4 7666180 7666180 C A rs35935435 SORCS2 Nonsynonymous SNV D351E 0.02 0.016 0.034 6 23 6 0.015 10 0 0 0 1 22 46819 chrX 109964669 109964669 C G CHRDL1 Nonsynonymous SNV A131P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.4 46820 chr5 145838636 145838647 CAGGCCCAGGCC - rs771088123 TCERG1 A239_Q242del 0.013 0.018 0.01 12 15 7 0.031 3 1 0 0 0 46821 chrX 11157535 11157535 G C rs1009758 ARHGAP6 Nonsynonymous SNV D611E 0.223 0.185 0.238 70 262 71 0.179 70 73 21 23 20 1.059 46822 chr5 140308241 140308241 T A rs116598649 PCDHAC1 Synonymous SNV A588A 0.004 0 0.007 0 5 0 0 2 0 0 0 0 7.307 46823 chr5 180377018 180377018 C A rs7703365 BTNL8 Nonsynonymous SNV T210K 0.192 0.208 0.17 56 225 80 0.144 50 67 22 14 16 0.002 46824 chr5 140308281 140308281 C T rs78805068 PCDHAC1 Nonsynonymous SNV R602W 0.004 0 0.007 0 5 0 0 2 0 0 0 0 26.8 46825 chrX 111698036 111698036 T C rs6568050 RTL4 Nonsynonymous SNV L27P 0.475 0.484 0.469 182 558 186 0.467 138 192 65 55 64 0.001 46826 chr5 1466919 1466919 G A rs2277006 LPCAT1 Synonymous SNV T455T 0.233 0.279 0.255 112 274 107 0.287 75 25 14 12 13 10.16 46827 chrX 111698440 111698440 G T rs7474140 RTL4 Nonsynonymous SNV D162Y 0.196 0.208 0.207 71 230 80 0.182 61 57 22 23 21 0.645 46828 chr5 140308591 140308591 C T rs77488964 PCDHAC1 Nonsynonymous SNV T705I 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.001 46829 chr5 1073886 1073886 G A rs145211606 SLC12A7 Synonymous SNV D701D 0.016 0.013 0.003 3 19 5 0.008 1 0 0 0 0 Benign 9.84 46830 chr5 147281308 147281308 C T rs11956228 C5orf46 Synonymous SNV K33K 0.089 0.102 0.136 49 104 39 0.126 40 4 2 4 3 15.11 46831 chrX 114425181 114425181 - GAGGCCGCTCGCCCAACGCCCACAGCG rs55659078 RBMXL3 P397_D398insNAHSGGRSP 0.991 0.995 0.986 386 1163 382 0.99 290 577 190 144 191 46832 chr5 140308664 140308664 T G rs76301676 PCDHAC1 Nonsynonymous SNV S729R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 2.83 46833 chrX 114425400 114425400 G A rs12857270 RBMXL3 Nonsynonymous SNV G466R 0.736 0.721 0.728 295 864 277 0.756 214 365 119 99 129 1.585 46834 chrX 114426011 114426011 C T RBMXL3 Synonymous SNV Y669Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.969 46835 chrX 114426171 114426171 C T rs5946294 RBMXL3 Nonsynonymous SNV R723C 0.998 1 0.99 389 1172 384 0.997 291 585 192 145 194 11.6 46836 chr5 140433038 140433038 C T rs2233594 PCDHB1 Synonymous SNV I661I 0.04 0.021 0.034 19 47 8 0.049 10 1 0 0 0 3.687 46837 chrX 114426917 114426917 C T rs4911809 RBMXL3 Synonymous SNV Y971Y 0.737 0.721 0.728 296 865 277 0.759 214 365 119 99 130 7.635 46838 chrX 118148229 118148229 A G rs2278954 LONRF3 Synonymous SNV A637A 0.427 0.445 0.412 164 501 171 0.421 121 176 63 50 62 8.453 46839 chrX 118281538 118281538 C A rs5910522 KIAA1210 Nonsynonymous SNV G103V 0.999 1 0.997 389 1173 384 0.997 293 586 192 146 194 9.172 46840 chrX 118587003 118587003 C T rs3810755 SLC25A43 Nonsynonymous SNV P334L 0.541 0.568 0.633 241 635 218 0.618 186 244 85 82 95 14.92 46841 chr5 110428085 110428085 C G rs35629723 WDR36 Nonsynonymous SNV D33E 0.012 0.005 0.003 3 14 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.029 46842 chrX 118678364 118678364 G A rs5910611 CXorf56 Synonymous SNV G111G 0.625 0.672 0.643 258 734 258 0.662 189 288 108 82 105 11.14 46843 chr17 18088220 18088220 T C rs747697644 ALKBH5 Synonymous SNV F221F 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.346 46844 chrX 118892888 118892888 G C rs2782222 SOWAHD Synonymous SNV A86A 0.571 0.547 0.541 235 670 210 0.603 159 292 90 70 104 10.53 46845 chrX 118893054 118893054 C A rs2782223 SOWAHD Synonymous SNV R142R 0.686 0.69 0.66 271 805 265 0.695 194 338 111 86 118 20.3 46846 chrX 118893137 118893137 T C rs2782224 SOWAHD Synonymous SNV D169D 0.686 0.693 0.673 271 805 266 0.695 198 338 112 88 118 0.006 46847 chrX 118893413 118893413 T C rs2782225 SOWAHD Synonymous SNV S261S 0.686 0.693 0.684 272 805 266 0.697 201 338 112 89 118 0.615 46848 chr5 153570566 153570566 - GGCGCCGGC rs766911733 GALNT10 A51_G52insPAA 0.002 0 0 0 2 0 0 0 0 0 0 0 46849 chrX 119387833 119387833 - TGA rs201958171 ZBTB33 D194_V195insD 0.737 0.69 0.646 282 865 265 0.723 190 369 113 83 120 46850 chrX 122336600 122336600 - G rs11452643 GRIA3 Frameshift insertion P129Afs*17 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 46851 chr5 111070298 111070298 T G rs3756605 STARD4-AS1 0.151 0.146 0.177 60 177 56 0.154 52 50 14 11 14 3.625 46852 chrX 122537277 122537277 T C rs502434 GRIA3 Synonymous SNV N400N 0.649 0.711 0.639 263 762 273 0.674 188 302 116 84 114 Benign 3.876 46853 chr5 182291 182291 A G rs11747660 PLEKHG4B Synonymous SNV L1579L 0.088 0.094 0.088 31 103 36 0.079 26 4 1 1 0 1.284 46854 chrX 123034511 123034511 A C rs5956583 XIAP Nonsynonymous SNV Q423P 0.324 0.289 0.333 120 380 111 0.308 98 125 35 38 43 Benign 6.079 46855 chrX 123538995 123538995 G C rs141510114 TENM1 Synonymous SNV T1752T 0 0 0.007 0 0 0 0 2 0 0 0 0 3.696 46856 chrX 123540315 123540315 G T rs960869 TENM1 Synonymous SNV T1662T 0.353 0.378 0.269 138 415 145 0.354 79 143 52 28 49 0.673 46857 chrX 124454140 124454140 C T rs774070645 TEX13C Nonsynonymous SNV R58W 0.002 0 0.003 0 2 0 0 1 1 0 0 0 2.634 46858 chrX 125298690 125298690 G A rs3761552 DCAF12L2 Synonymous SNV C406C 0.327 0.362 0.282 130 384 139 0.333 83 120 49 30 45 7.433 46859 chr5 140622 140622 G A rs151163016 PLEKHG4B Nonsynonymous SNV R423Q 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.405 46860 chr5 114469724 114469724 T C rs17137481 TRIM36 Nonsynonymous SNV N301S 0.037 0.026 0.044 15 43 10 0.038 13 1 0 0 1 0.098 46861 chrX 125299188 125299188 T G rs12014937 DCAF12L2 Synonymous SNV P240P 0.326 0.359 0.276 131 383 138 0.336 81 120 49 29 45 0.006 46862 chr5 149212614 149212614 G T rs115557257 PPARGC1B Synonymous SNV R287R 0.02 0.008 0.024 14 23 3 0.036 7 0 0 0 0 0.103 46863 chrX 125299467 125299467 G T rs10126452 DCAF12L2 Nonsynonymous SNV H147Q 0.327 0.362 0.276 131 384 139 0.336 81 120 49 29 45 0.001 46864 chrX 125955428 125955428 G A rs2269777 PRR32 Synonymous SNV P269P 0.478 0.521 0.435 168 561 200 0.431 128 206 82 50 60 1.062 46865 chr5 2749057 2749057 C A rs76906087 IRX2 Nonsynonymous SNV E255D 0.173 0.193 0.129 87 203 74 0.223 38 21 6 1 10 13.2 46866 chrX 12809661 12809661 G A rs1731469 PRPS2 Synonymous SNV L15L 0.637 0.638 0.595 255 748 245 0.654 175 293 100 74 112 13.59 46867 chr5 147510892 147510892 C T rs373802380 SPINK5 Nonsynonymous SNV P1012L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 24.8 46868 chr5 111601969 111601969 C T rs34008454 EPB41L4A Nonsynonymous SNV V132I 0.008 0.01 0.007 9 9 4 0.023 2 0 0 0 0 0.504 46869 chrX 128880614 128880614 T C rs3747343 XPNPEP2 Synonymous SNV P149P 0.233 0.193 0.252 71 274 74 0.182 74 83 22 27 21 Benign 0.042 46870 chr5 2755485 2755485 C T rs62333235 C5orf38 Stop gain Q226X 0.372 0.385 0.364 152 437 148 0.39 107 95 33 16 32 12.27 46871 chrX 12903659 12903659 A T rs179008 TLR7 Nonsynonymous SNV Q11L 0.252 0.232 0.173 107 296 89 0.274 51 84 29 16 36 0.003 46872 chr5 149361221 149361221 A T rs3776070 SLC26A2 Nonsynonymous SNV T689S 0.156 0.138 0.146 52 183 53 0.133 43 10 1 2 5 Benign 0.006 46873 chrX 129147079 129147079 T C rs4830173 BCORL1 Nonsynonymous SNV F111L 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 5.67 46874 chrX 12937804 12937804 C T rs5744080 TLR8 Synonymous SNV H215H 0.41 0.435 0.459 153 481 167 0.392 135 161 57 57 53 8.106 46875 chrX 12939112 12939112 G C rs2407992 TLR8 Synonymous SNV L651L 0.413 0.427 0.452 155 485 164 0.397 133 164 55 56 53 0.002 46876 chr5 149390148 149390148 G A rs2241698 HMGXB3 Nonsynonymous SNV V263I 0.151 0.12 0.119 51 177 46 0.131 35 9 2 2 3 11.19 46877 chrX 12939412 12939412 C A rs3747414 TLR8 Synonymous SNV I751I 0.387 0.414 0.381 147 454 159 0.377 112 149 54 44 51 3.677 46878 chrX 12939928 12939928 T C rs2109135 TLR8 Synonymous SNV D923D 1 1 0.997 388 1174 384 0.995 293 587 192 146 193 0.022 46879 chrX 130408745 130408745 G A rs6529473 IGSF1 Synonymous SNV V1184V 0.233 0.245 0.19 106 274 94 0.272 56 81 27 20 40 Benign 6.027 46880 chrX 130410965 130410965 A G rs4830219 IGSF1 Synonymous SNV Y843Y 0.377 0.38 0.34 135 443 146 0.346 100 136 50 38 45 Benign 0.008 46881 chr5 149421502 149421502 A G rs2276982 HMGXB3 Synonymous SNV E734E 0.158 0.146 0.133 62 186 56 0.159 39 10 6 3 5 8.431 46882 chrX 130415818 130415818 T C rs1128617 IGSF1 Synonymous SNV E440E 0.457 0.471 0.463 184 536 181 0.472 136 198 71 57 63 Benign 5.952 46883 chr5 156482387 156482387 G A rs191117891 HAVCR1 Synonymous SNV H68H 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Benign 2.879 46884 chrX 130416958 130416958 C T rs5932877 IGSF1 Synonymous SNV V307V 0.992 1 0.99 389 1165 384 0.997 291 580 192 145 194 Benign 10.25 46885 chrX 130420006 130420006 T C rs5930458 IGSF1 Synonymous SNV P29P 0.997 1 0.99 389 1171 384 0.997 291 585 192 145 194 0.075 46886 chrX 130420415 130420415 T C rs4495600 IGSF1 Synonymous SNV S31S 0.999 1 0.99 389 1173 384 0.997 291 586 192 145 194 0.021 46887 chrX 130678467 130678467 A G rs499030 OR13H1 Synonymous SNV V140V 0.676 0.635 0.626 260 794 244 0.667 184 322 96 81 112 1.71 46888 chrX 130678596 130678596 C G rs17316625 OR13H1 Synonymous SNV L183L 0.468 0.427 0.418 169 549 164 0.433 123 202 58 48 60 2.075 46889 chrX 130678844 130678844 A C rs655415 OR13H1 Nonsynonymous SNV Y266S 0.676 0.635 0.626 260 794 244 0.667 184 322 96 81 112 0.036 46890 chrX 132161673 132161673 C T rs41304540 USP26 Synonymous SNV E192E 0.538 0.505 0.541 213 632 194 0.546 159 235 70 67 79 8.263 46891 chr5 33624430 33624430 A G rs61748198 ADAMTS12 Synonymous SNV D683D 0.06 0.073 0.061 32 70 28 0.082 18 4 0 1 0 6.4 46892 chrX 13337059 13337059 C T rs4830842 ATXN3L Nonsynonymous SNV G332D 0.276 0.24 0.293 100 324 92 0.256 86 102 29 31 32 0.008 46893 chrX 13337115 13337115 C T rs17322143 ATXN3L Synonymous SNV R313R 0.058 0.052 0.075 18 68 20 0.046 22 17 4 7 5 7.749 46894 chrX 133379551 133379551 C T rs2428577 CCDC160 Synonymous SNV L241L 0.998 1 0.99 389 1172 384 0.997 291 586 192 145 194 7.764 46895 chr5 156770209 156770209 G A rs10214194 FNDC9 Synonymous SNV S112S 0.141 0.112 0.167 69 166 43 0.177 49 10 3 4 9 9.937 46896 chrX 135313034 135313034 T G rs1055497 MAP7D3 Nonsynonymous SNV E467A 0.48 0.484 0.456 180 563 186 0.462 134 209 74 56 69 0.001 46897 chrX 135426693 135426693 A G rs4829829 ADGRG4 Nonsynonymous SNV I276M 0.496 0.466 0.432 200 582 179 0.513 127 212 66 49 79 0.001 46898 chr5 140741979 140741979 A G rs369877843 PCDHGB2 Synonymous SNV Q759Q 0.005 0 0 3 6 0 0.008 0 0 0 0 0 9.286 46899 chrX 135426968 135426968 C A rs5930931 ADGRG4 Nonsynonymous SNV P368H 0.497 0.466 0.432 200 583 179 0.513 127 213 66 49 79 9.482 46900 chrX 135429503 135429503 C A rs4829830 ADGRG4 Nonsynonymous SNV T1213N 0.5 0.471 0.446 200 587 181 0.513 131 215 68 50 79 0.025 46901 chrX 135430044 135430044 T C rs877761 ADGRG4 Synonymous SNV T1393T 0.502 0.471 0.452 204 589 181 0.523 133 215 68 51 82 0.004 46902 chr5 34811131 34811131 G A rs35607113 RAI14 Synonymous SNV P147P 0.206 0.198 0.204 88 242 76 0.226 60 25 7 3 8 13.85 46903 chrX 135430483 135430483 T C rs912002 ADGRG4 Nonsynonymous SNV S1540P 0.498 0.471 0.446 200 585 181 0.513 131 214 68 50 79 23 46904 chr5 34823336 34823336 G A rs35088174 RAI14 Synonymous SNV R434R 0.015 0.016 0.007 3 18 6 0.008 2 0 0 0 0 2.909 46905 chr5 121413365 121413365 T G rs575026013 LOX Nonsynonymous SNV T106P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.005 46906 chrX 135431236 135431236 T C rs5930932 ADGRG4 Nonsynonymous SNV F1791L 0.498 0.471 0.446 200 585 181 0.513 131 214 68 50 79 0.001 46907 chrX 135431358 135431358 C T rs5930933 ADGRG4 Synonymous SNV P1831P 0.498 0.471 0.446 200 585 181 0.513 131 214 68 50 79 4.683 46908 chrX 135474420 135474420 C A rs1329546 ADGRG4 Synonymous SNV T2647T 0.642 0.615 0.629 262 754 236 0.672 185 299 103 80 112 16.33 46909 chr5 140768844 140768844 C T rs148279287 PCDHGB4 Nonsynonymous SNV P465S 0.022 0.023 0.031 14 26 9 0.036 9 0 0 0 1 22.4 46910 chr17 61601597 61601597 G A rs41280092 KCNH6 Synonymous SNV E58E 0.009 0.026 0 4 10 10 0.01 0 0 0 0 0 10.4 46911 chrX 135474445 135474447 GAT - rs34255702 ADGRG4 D2657del 0.643 0.615 0.629 262 755 236 0.672 185 299 103 80 112 46912 chrX 135480126 135480126 T C rs5974595 ADGRG4 Synonymous SNV F2757F 0.646 0.615 0.629 266 758 236 0.682 185 301 103 80 115 1.395 46913 chrX 135496398 135496398 G A rs5930942 ADGRG4 Synonymous SNV T3039T 0.639 0.609 0.629 265 750 234 0.679 185 301 102 80 115 8.986 46914 chrX 13681115 13681115 C T rs2361159 TCEANC Nonsynonymous SNV S163L 0.56 0.526 0.558 229 657 202 0.587 164 247 79 70 92 6.473 46915 chr5 150567017 150567017 A G rs61745454 CCDC69 Nonsynonymous SNV L108P 0.048 0.057 0.003 22 56 22 0.056 1 1 1 0 0 23.4 46916 chr5 158223373 158223373 T A rs759343698 EBF1 Nonsynonymous SNV T266S 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.44 46917 chr17 61615545 61615545 A G rs147985248 KCNH6 Nonsynonymous SNV I541V 0.009 0.029 0 4 11 11 0.01 0 1 0 0 0 16.04 46918 chrX 13681638 13681638 C T rs5935649 TCEANC Synonymous SNV N337N 0.558 0.526 0.558 229 655 202 0.587 164 247 79 70 92 13.24 46919 chr5 159520661 159520661 T C rs56251777 PWWP2A Synonymous SNV E332E 0.095 0.091 0.109 46 111 35 0.118 32 6 0 2 4 0.008 46920 chrX 13681679 13681679 G T rs5935650 TCEANC Nonsynonymous SNV W351L 0.548 0.523 0.565 229 643 201 0.587 166 244 79 71 92 6.038 46921 chr17 61621420 61621420 C A rs143048027 KCNH6 Nonsynonymous SNV L761I 0.009 0.026 0 4 11 10 0.01 0 1 0 0 0 1.976 46922 chr5 149460542 149460542 A C rs56048668 CSF1R Nonsynonymous SNV V32G 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Benign/Likely benign 23.8 46923 chrX 138633280 138633280 A G rs6048 F9 Nonsynonymous SNV T156A 0.302 0.263 0.269 102 354 101 0.262 79 112 31 27 34 Benign 0.002 46924 chr17 61769122 61769122 C T rs373380834 MAP3K3 Synonymous SNV Y454Y 0 0 0 0 0 0 0 0 0 0 0 0 13.64 46925 chrX 140008385 140008385 G T rs5907732 MIR320D2 0 0 0.701 0 0 0 0 206 0 0 95 0 6.7 46926 chrX 14038534 14038534 G C rs150567066 GEMIN8 Synonymous SNV A45A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.2 46927 chrX 140983064 140983064 G A rs176024 MAGEC3 Nonsynonymous SNV A307T 0.919 0.922 0.932 356 1079 354 0.913 274 515 172 133 173 10.34 46928 chr5 160042903 160042903 G T rs61734665 ATP10B Nonsynonymous SNV N865K 0.043 0.031 0.034 18 51 12 0.046 10 2 0 0 0 26.5 46929 chrX 140983127 140983127 G A rs176026 MAGEC3 Nonsynonymous SNV A328T 0.905 0.917 0.922 344 1063 352 0.882 271 502 171 132 165 21.8 46930 chr5 160047759 160047759 C T rs61734666 ATP10B Nonsynonymous SNV G671R 0.043 0.031 0.034 18 51 12 0.046 10 2 0 0 0 14.46 46931 chrX 140993642 140993642 C T rs176037 MAGEC1 Nonsynonymous SNV T151I 0.364 0.383 0.381 160 427 147 0.41 112 140 52 43 53 11.84 46932 chr5 123980277 123980277 A G rs143180268 ZNF608 Synonymous SNV D1261D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.599 46933 chrX 140994171 140994171 C G rs176047 MAGEC1 Nonsynonymous SNV H327Q 0.585 0.599 0.626 263 687 230 0.674 184 267 98 80 115 0.001 46934 chr5 140866243 140866243 T A rs375080564 PCDHGC4 Nonsynonymous SNV D501E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.381 46935 chrX 140994280 140994280 A G rs4824884 MAGEC1 Nonsynonymous SNV T364A 0.252 0.266 0.241 102 296 102 0.262 71 92 36 23 32 8.961 46936 chrX 140996364 140996364 G A rs12845617 MAGEC1 Synonymous SNV E1058E 0.063 0.089 0.102 25 74 34 0.064 30 15 9 9 5 1.824 46937 chrX 141290865 141290865 C T rs3765272 MAGEC2 Synonymous SNV P303P 0.75 0.745 0.633 285 880 286 0.731 186 382 127 81 123 10.49 46938 chrX 144904252 144904252 G A rs3810704 SLITRK2 Synonymous SNV T103T 0.258 0.234 0.235 103 303 90 0.264 69 92 23 24 34 5.906 46939 chr5 150036601 150036601 - CGGCTCAAGCGTGGCAGCCTC rs768419688 SYNPO L895_P896insRLKRGSL 0.015 0.023 0.003 10 18 9 0.026 1 0 0 0 0 46940 chrX 144904882 144904882 T C rs2748588 SLITRK2 Synonymous SNV P313P 0.888 0.883 0.915 333 1043 339 0.854 269 491 159 130 154 0.009 46941 chrX 14627144 14627144 T C rs2229963 GLRA2 Synonymous SNV H249H 0.326 0.341 0.259 143 383 131 0.367 76 114 40 28 54 0.056 46942 chrX 146340339 146340339 T - rs36092315 MIR509-1, MIR509-2, MIR509-3 0 0 0.296 0 0 0 0 87 0 0 33 0 46943 chr5 125805414 125805414 C T rs771437395 GRAMD2B Synonymous SNV N98N 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 17.41 46944 chrX 147800748 147800748 A G rs241084 AFF2 Nonsynonymous SNV K15R 0.189 0.193 0.231 70 222 74 0.179 68 59 20 23 18 1.085 46945 chr5 126383463 126383463 A G rs374407759 C5orf63 Synonymous SNV L106L 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 1.46 46946 chr5 36677083 36677083 G C rs2032892 SLC1A3 Nonsynonymous SNV E173D 0.002 0.005 0.02 7 2 2 0.018 6 0 0 0 0 Benign 6.454 46947 chrX 148713252 148713252 C T rs113119106 TMEM185A Synonymous SNV R4R 0.009 0 0.048 0 11 0 0 14 2 0 5 0 11.89 46948 chrX 149013727 149013727 A G rs5983916 MAGEA8 Synonymous SNV A227A 0.764 0.81 0.738 299 897 311 0.767 217 388 139 93 132 2.125 46949 chrX 149680539 149680539 C T rs113311895 MAMLD1 Synonymous SNV C731C 0.203 0.216 0.143 72 238 83 0.185 42 64 27 15 22 9.004 46950 chrX 149680554 149680554 C T rs2070779 MAMLD1 Synonymous SNV S736S 0.721 0.74 0.687 293 847 284 0.751 202 365 122 89 127 9.65 46951 chr17 62132160 62132160 C T rs55653398 ERN1 Synonymous SNV G567G 0.02 0.026 0.017 10 24 10 0.026 5 1 0 0 0 13.81 46952 chr5 150911317 150911317 G A rs143792947 FAT2 Synonymous SNV Y3214Y 0.02 0.016 0.014 5 24 6 0.013 4 1 0 0 0 Benign 8.471 46953 chrX 149680832 149680832 C T rs186833799 MAMLD1 Nonsynonymous SNV A829V 0.032 0.044 0.048 14 38 17 0.036 14 8 3 5 4 0.138 46954 chrX 149931106 149931106 C T rs16995747 MTMR1 Synonymous SNV G540G 0.844 0.813 0.857 315 991 312 0.808 252 451 142 118 147 15.58 46955 chr5 122365083 122365083 C - rs45449493 PPIC D50Mfs*6 0.014 0.013 0.01 1 17 5 0.003 3 0 0 0 0 46956 chr4 83557769 83557769 G A rs145735011 SCD5 Synonymous SNV N259N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.743 46957 chrX 150349558 150349569 CACCACTGGCCA - rs377556761 GPR50 T502_H505del 0.429 0.445 0.384 131 504 171 0.336 113 171 63 44 43 46958 chrX 150349649 150349649 A G rs561077 GPR50 Nonsynonymous SNV T532A 0.435 0.443 0.384 131 511 170 0.336 113 174 62 44 43 0.002 46959 chrX 150349871 150349871 A G rs13440581 GPR50 Nonsynonymous SNV I606V 0.592 0.547 0.541 232 695 210 0.595 159 267 78 66 92 1.023 46960 chrX 150840185 150840185 T C rs6627174 PASD1 Synonymous SNV G457G 0.216 0.234 0.197 71 254 90 0.182 58 69 29 20 21 0.025 46961 chr5 376795 376795 A G rs765620811 AHRR Synonymous SNV A109A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.342 46962 chrX 150869127 150869127 G A rs150201138 PRRG3 Synonymous SNV Q106Q 0.02 0.023 0.051 22 24 9 0.056 15 4 1 6 6 5.449 46963 chr5 38506646 38506646 C T rs769294023 LIFR Synonymous SNV A360A 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Likely benign 12.21 46964 chrX 150869267 150869267 A G rs4323608 PRRG3 Nonsynonymous SNV N153S 0.89 0.885 0.857 332 1045 340 0.851 252 483 160 119 157 0.001 46965 chrX 150884620 150884620 C T rs3810715 FATE1 Nonsynonymous SNV A10V 0.17 0.211 0.15 54 200 81 0.138 44 52 25 14 12 16.63 46966 chrX 151092220 151092220 A G rs1047248 MAGEA4 Synonymous SNV A28A 0.579 0.544 0.527 232 680 209 0.595 155 261 77 63 93 0.039 46967 chrX 151092653 151092653 G A rs1047251 MAGEA4 Nonsynonymous SNV A173T 0.596 0.581 0.544 236 700 223 0.605 160 274 83 68 95 0.017 46968 chr5 168093550 168093550 C T rs762248470 SLIT3 Nonsynonymous SNV R1501Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 46969 chr5 150901597 150901597 G C rs3734047 FAT2 Synonymous SNV V3519V 0.282 0.26 0.235 114 331 100 0.292 69 42 10 8 18 0.019 46970 chrX 151138179 151138179 A C rs1139916 GABRE Nonsynonymous SNV S102A 0.681 0.617 0.718 256 799 237 0.656 211 326 92 94 104 11.72 46971 chr5 130498364 130498364 A G rs78949626 HINT1 Synonymous SNV L39L 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 9.454 46972 chrX 151138745 151138745 C T rs45468892 GABRE Synonymous SNV G62G 0.017 0.021 0.037 15 20 8 0.038 11 3 2 3 4 Benign 8.305 46973 chr5 150901630 150901630 G T rs3734049 FAT2 Synonymous SNV I3508I 0.277 0.26 0.235 114 325 100 0.292 69 42 10 8 18 8.839 46974 chrX 151303393 151303393 C T rs210586 MAGEA10 Nonsynonymous SNV V234I 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 1.8 46975 chr5 123985320 123985320 G A rs61752317 ZNF608 Synonymous SNV H411H 0.045 0.044 0.054 21 53 17 0.054 16 0 1 0 1 9.768 46976 chrX 151303596 151303596 C T rs210585 MAGEA10 Nonsynonymous SNV R166K 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 0.002 46977 chr5 150908813 150908813 G A rs2304024 FAT2 Nonsynonymous SNV R3318W 0.274 0.258 0.235 112 322 99 0.287 69 39 8 8 17 29.4 46978 chrX 151821277 151821277 T A rs3810651 GABRQ Nonsynonymous SNV F478I 0.684 0.698 0.605 232 803 268 0.595 178 339 115 74 90 0.001 46979 chr5 1253918 1253918 C T rs35033501 TERT Synonymous SNV P1045P 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 10.04 46980 chr5 1255454 1255454 G A rs181612536 TERT Synonymous SNV V972V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 6.424 46981 chrX 152018832 152018832 T G rs5969919 NSDHL Synonymous SNV G44G 0.901 0.846 0.864 327 1058 325 0.838 254 500 149 120 152 Benign 2.475 46982 chrX 152083059 152083059 G A rs6526142 ZNF185 Nonsynonymous SNV R9H 0.256 0.268 0.313 120 300 103 0.308 92 88 28 37 41 15.17 46983 chrX 152226542 152226542 T C rs6526155 PNMA3 Nonsynonymous SNV V377A 0.835 0.841 0.823 334 980 323 0.856 242 447 147 112 155 0.001 46984 chr5 153381848 153381848 C T rs11748836 FAM114A2 Nonsynonymous SNV E337K 0.02 0.023 0.027 10 23 9 0.026 8 0 0 0 1 24.9 46985 chr5 126253810 126253810 G A rs62637567 MARCHF3 Synonymous SNV S18S 0.034 0.044 0.024 13 40 17 0.033 7 1 0 0 0 11.21 46986 chrX 152482198 152482198 G A rs2233045 MAGEA1 Synonymous SNV L271L 0.185 0.18 0.146 65 217 69 0.167 43 64 22 11 17 3.65 46987 chr5 126387583 126387583 C T rs61730158 C5orf63 Synonymous SNV R76R 0.038 0.047 0.027 15 45 18 0.038 8 1 0 0 0 17.47 46988 chrX 152482917 152482917 T C rs2008160 MAGEA1 Nonsynonymous SNV T32A 0.228 0.245 0.211 92 268 94 0.236 62 77 32 21 28 0.001 46989 chrX 152610985 152610985 T C rs3213466 ZNF275 Synonymous SNV P13P 0.296 0.284 0.313 132 347 109 0.338 92 107 37 37 51 0.122 46990 chr5 169535450 169535450 G C rs56128152 FOXI1 Synonymous SNV P324P 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.379 46991 chrX 152613112 152613112 C T rs7066295 ZNF275 Synonymous SNV C323C 0.52 0.479 0.51 204 610 184 0.523 150 224 68 64 80 0.711 46992 chr5 126865997 126865997 G A rs34252679 PRRC1 Synonymous SNV G222G 0.042 0.057 0.051 12 49 22 0.031 15 0 1 1 0 11.86 46993 chrX 152771509 152771509 C T rs1126499 BGN Synonymous SNV S180S 0.465 0.49 0.554 193 546 188 0.495 163 187 66 67 73 13.46 46994 chrX 152815089 152815089 A G rs3020949 ATP2B3 Synonymous SNV G491G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 7.293 46995 chr5 153796484 153796484 G A rs3734085 GALNT10 Synonymous SNV L588L 0.02 0.031 0.034 11 24 12 0.028 10 0 0 0 0 10.11 46996 chrX 152823728 152823728 G C rs2269415 ATP2B3 Synonymous SNV V864V 0.565 0.505 0.473 204 663 194 0.523 139 253 68 56 77 Benign 7.921 46997 chr5 169805956 169805956 C G rs2301149 KCNMB1 Nonsynonymous SNV V110L 0.142 0.115 0.102 60 167 44 0.154 30 14 1 3 5 12.29 46998 chrX 152830489 152830489 C T rs782140102 ATP2B3 Synonymous SNV I1090I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 46999 chrX 153035798 153035798 G A rs2266879 PLXNB3 Nonsynonymous SNV V598I 0.501 0.503 0.582 169 588 193 0.433 171 214 65 72 61 0.121 47000 chr17 66873743 66873743 G A rs8068987 ABCA8 Synonymous SNV P1332P 0.129 0.122 0.129 40 151 47 0.103 38 16 1 2 4 6.643 47001 chrX 153039502 153039502 G C rs6643791 PLXNB3 Nonsynonymous SNV E1156D 0.735 0.711 0.776 253 863 273 0.649 228 365 113 103 107 0.085 47002 chrX 153041544 153041544 T C rs5987155 PLXNB3 Nonsynonymous SNV M1535T 0.736 0.719 0.779 252 864 276 0.646 229 366 114 104 106 0.001 47003 chr5 172185145 172185145 C T rs753469122 LOC101928093 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.751 47004 chrX 153042419 153042419 G A rs34966902 PLXNB3 Synonymous SNV R1637R 0.561 0.563 0.599 197 659 216 0.505 176 248 79 76 72 4.915 47005 chr5 146460691 146460691 T A rs17524553 PPP2R2B Nonsynonymous SNV T7S 0.067 0.044 0.051 22 79 17 0.056 15 2 0 0 0 0.003 47006 chr5 172550204 172550204 C T rs1129146 CREBRF Synonymous SNV L601L 0.119 0.104 0.15 54 140 40 0.138 44 10 4 6 3 10.67 47007 chrX 153049535 153049535 A G rs4898444 SRPK3 Synonymous SNV P337P 0.463 0.456 0.371 196 544 175 0.503 109 188 60 41 72 0.008 47008 chrX 15306105 15306105 C T rs34025595 ASB11 Nonsynonymous SNV D228N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27 47009 chr5 128796893 128796893 G A rs149861653 ADAMTS19 Nonsynonymous SNV A64T 0.018 0.003 0.007 2 21 1 0.005 2 0 0 0 0 21 47010 chr5 132387979 132387979 T A rs61745470 HSPA4 Nonsynonymous SNV C13S 0.031 0.013 0.034 7 36 5 0.018 10 1 0 0 0 27.6 47011 chrX 153149708 153149708 - C rs77883713 LCA10 0 0 0.997 0 0 0 0 293 0 0 146 0 47012 chr5 151043103 151043103 G C rs1053411 SPARC Synonymous SNV L313L 0.118 0.109 0.085 46 138 42 0.118 25 10 1 1 1 9.739 47013 chrX 153149715 153149715 C G rs6643650 LCA10 0 0 0.997 0 0 0 0 293 0 0 146 0 0.001 47014 chr4 8621167 8621167 G A rs9342 CPZ Synonymous SNV G583G 0.032 0.031 0.041 14 38 12 0.036 12 0 2 0 0 4.803 47015 chrX 153151277 153151277 C G rs56026845 LCA10 0 0 0.595 0 0 0 0 175 0 0 87 0 0.011 47016 chr5 175779725 175779725 G A rs141415599 KIAA1191 Synonymous SNV P59P 0.009 0.013 0 4 11 5 0.01 0 0 0 0 0 4.228 47017 chrX 153151280 153151280 - CC rs143464562 LCA10 0 0 0.575 0 0 0 0 169 0 0 84 0 47018 chr5 43280183 43280183 - A rs762209025 NIM1K Frameshift insertion G224Rfs*2 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 47019 chrX 153151285 153151285 T - rs199975679 LCA10 0 0 0.575 0 0 0 0 169 0 0 84 0 47020 chr5 433056 433056 G T rs2303738 AHRR Nonsynonymous SNV G373V 0.055 0.036 0.041 20 64 14 0.051 12 1 1 0 0 0.012 47021 chrX 153215839 153215839 G A rs3027875 HCFC1 Synonymous SNV C1953C 0.593 0.612 0.588 257 696 235 0.659 173 264 95 73 105 Benign 11.37 47022 chr5 175811133 175811133 T C rs1065212 NOP16 Nonsynonymous SNV E183G 0.139 0.148 0.095 48 163 57 0.123 28 12 2 1 1 0.002 47023 chrX 153278829 153278829 G A rs1059703 IRAK1 Nonsynonymous SNV S453L 0.733 0.786 0.69 302 861 302 0.774 203 361 134 93 133 2.967 47024 chr5 175811233 175811233 C T rs1065206 NOP16 Nonsynonymous SNV D150N 0.119 0.117 0.075 42 140 45 0.108 22 9 2 0 1 25.4 47025 chr17 27028030 27028030 A C rs62640050 SUPT6H Synonymous SNV P1626P 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 2.137 47026 chrX 153284192 153284192 A G rs1059702 IRAK1 Nonsynonymous SNV F196S 0.747 0.797 0.769 307 877 306 0.787 226 371 137 103 137 1.524 47027 chr5 175815874 175815874 T C rs1060588 HIGD2A Synonymous SNV P18P 0.139 0.146 0.095 47 163 56 0.121 28 12 2 1 1 0.095 47028 chrX 153284483 153284483 G A rs1059701 IRAK1 Synonymous SNV V161V 0.71 0.773 0.711 288 834 297 0.738 209 347 130 94 125 8.231 47029 chrX 153629155 153629155 A G rs12012747 RPL10 Nonsynonymous SNV I148V 0.947 0.964 0.898 365 1112 370 0.936 264 540 182 128 178 Benign 10.99 47030 chrX 153633359 153633359 G C rs1130929 DNASE1L1 Synonymous SNV P67P 0.948 0.964 0.898 365 1113 370 0.936 264 542 182 128 178 0.108 47031 chrX 153657083 153657083 A G rs28497482 ATP6AP1 Synonymous SNV R15R 0.933 0.948 0.905 365 1095 364 0.936 266 535 179 129 178 3.099 47032 chrX 153693811 153693811 C T rs5945429 PLXNA3 Synonymous SNV F763F 0.22 0.224 0.218 77 258 86 0.197 64 68 23 22 23 10.32 47033 chr5 176008539 176008539 G A rs72809131 CDHR2 Nonsynonymous SNV E672K 0.015 0.016 0.01 4 18 6 0.01 3 0 0 0 0 2.568 47034 chrX 153694334 153694334 C G rs5945430 PLXNA3 Nonsynonymous SNV D863E 0.221 0.221 0.224 77 260 85 0.197 66 68 23 23 23 1.742 47035 chr5 157065306 157065306 G A rs35793864 SOX30 Synonymous SNV F604F 0.151 0.167 0.102 43 177 64 0.11 30 14 4 2 2 7.942 47036 chrX 153695908 153695908 G T rs60361517 PLXNA3 Synonymous SNV A1154A 0.216 0.224 0.214 74 254 86 0.19 63 67 23 22 22 0.088 47037 chrX 153696247 153696247 G C rs5987266 PLXNA3 Synonymous SNV A1241A 0.255 0.237 0.238 79 299 91 0.203 70 84 24 25 23 4.85 47038 chr5 157158553 157158553 C T rs2270817 THG1L Synonymous SNV F35F 0.049 0.044 0.048 17 57 17 0.044 14 0 0 1 0 21 47039 chrX 153994596 153994596 G T rs2728532 DKC1 Synonymous SNV T123T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign/Likely benign 10.62 47040 chrX 154020114 154020114 C A rs1126762 MPP1 Synonymous SNV T68T 0.758 0.74 0.697 267 890 284 0.685 205 382 121 89 114 22.8 47041 chrX 15415583 15415583 C T rs8094 PIR Synonymous SNV Q227Q 0.589 0.589 0.486 219 691 226 0.562 143 269 93 55 90 9.434 47042 chr17 27576202 27576202 C T rs142631461 CRYBA1 Nonsynonymous SNV P25L 0.009 0.016 0.007 10 10 6 0.026 2 0 0 0 0 Benign 20.5 47043 chrX 154456747 154456747 A G rs572013 VBP1 Nonsynonymous SNV M159V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 8.95 47044 chrX 15706830 15706830 C A rs4060 CA5BP1, CA5BP1-CA5B 0.448 0.422 0.425 171 526 162 0.438 125 184 59 49 59 5.443 47045 chrX 15800751 15800751 G A rs1808 CA5B Synonymous SNV A306A 0.285 0.318 0.276 112 335 122 0.287 81 108 42 27 36 6.609 47046 chrX 15838366 15838366 C T rs2301724 ZRSR2 Synonymous SNV N288N 0.519 0.534 0.558 186 609 205 0.477 164 225 79 69 74 13.45 47047 chrX 16168677 16168677 T C rs4986946 GRPR Synonymous SNV I221I 0.29 0.276 0.31 137 340 106 0.351 91 102 35 34 50 5.016 47048 chrX 16859628 16859628 G A rs5924530 TXLNG Synonymous SNV Q310Q 0.429 0.438 0.418 139 504 168 0.356 123 172 64 45 46 8.051 47049 chrX 17819377 17819377 T C rs6527818 RAI2 Nonsynonymous SNV M252V 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.09 47050 chr5 176516631 176516631 G A rs1966265 FGFR4 Nonsynonymous SNV V10I 0.12 0.117 0.092 52 141 45 0.133 27 10 1 1 3 0.002 47051 chrX 18972497 18972497 C G rs17313469 PHKA2 Nonsynonymous SNV E38Q 0.031 0.036 0.031 26 36 14 0.067 9 4 4 3 10 Benign 16.05 47052 chrX 19373839 19373839 A G rs1126565 PDHA1 Synonymous SNV A234A 0.063 0.089 0.082 31 74 34 0.079 24 16 13 7 9 Benign 10.68 47053 chrX 19482476 19482476 C T rs5909299 MAP3K15 Nonsynonymous SNV A192T 0.849 0.841 0.83 326 997 323 0.836 244 459 151 113 151 22.5 47054 chr5 147929740 147929740 G A rs17706743 HTR4 Synonymous SNV L38L 0.034 0.036 0.078 20 40 14 0.051 23 0 0 1 1 8.31 47055 chrX 19555842 19555842 C T rs142403021 SH3KBP1 Nonsynonymous SNV R369Q 0.014 0.029 0.01 3 17 11 0.008 3 3 5 0 0 27.9 47056 chr17 71747380 71747380 T - rs199782759 LOC100134391 0.015 0.013 0.027 13 18 5 0.033 8 0 1 0 0 47057 chrX 21861434 21861434 A G rs3213451 MBTPS2 Synonymous SNV Q74Q 0.368 0.346 0.398 139 432 133 0.356 117 147 43 42 49 Benign 5.462 47058 chr5 132096592 132096592 G A rs367782279 SEPTIN8 Synonymous SNV N396N 0.003 0 0 0 3 0 0 0 0 0 0 0 10.54 47059 chrX 23398214 23398214 T C rs5926304 PTCHD1 Synonymous SNV C286C 0.652 0.685 0.619 234 765 263 0.6 182 313 113 78 98 Benign 0.096 47060 chrX 23928489 23928489 C T rs2707164 CXorf58 Nonsynonymous SNV R24C 0.613 0.625 0.605 232 720 240 0.595 178 288 100 77 93 10.67 47061 chrX 24073761 24073761 C T rs36018672 EIF2S3 Synonymous SNV H33H 0.618 0.589 0.561 247 726 226 0.633 165 286 87 70 103 Likely benign 17.12 47062 chrX 24075862 24075862 A G rs16997659 EIF2S3 Nonsynonymous SNV K125R 0.19 0.195 0.19 82 223 75 0.21 56 59 24 19 27 Likely benign 11.9 47063 chr5 52856546 52856546 G A NDUFS4 Synonymous SNV R18R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.42 47064 chrX 24844699 24844699 C A rs11573423 POLA1 Synonymous SNV V1239V 0.065 0.052 0.051 28 76 20 0.072 15 18 5 4 7 14.82 47065 chrX 26157220 26157220 C T rs5944317 MAGEB18 Nonsynonymous SNV P40S 0.409 0.393 0.293 177 480 151 0.454 86 159 53 30 68 0.001 47066 chrX 26157792 26157792 C T rs5944318 MAGEB18 Synonymous SNV A230A 0.409 0.391 0.293 176 480 150 0.451 86 159 52 30 67 11.36 47067 chrX 27479339 27479339 A G rs12842916 PPP4R3C Nonsynonymous SNV V692A 0 0 0.531 0 0 0 0 156 0 0 66 0 2.003 47068 chrX 2777985 2777985 C T rs2306734 GYG2 Nonsynonymous SNV A84V 0.737 0.719 0.759 291 865 276 0.746 223 372 121 101 125 Benign 5.745 47069 chr4 89421086 89421086 A G rs10516809 HERC5 Synonymous SNV Q818Q 0.054 0.044 0.058 13 63 17 0.033 17 1 1 1 0 0.02 47070 chrX 2779570 2779570 A G rs2306735 GYG2 Nonsynonymous SNV H127R 0.684 0.656 0.68 275 803 252 0.705 200 332 105 89 117 Benign 0.001 47071 chr5 16465642 16465642 C G ZNF622 Nonsynonymous SNV E45Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 47072 chrX 2832742 2832742 G C rs211648 ARSD Nonsynonymous SNV T358R 0.653 0.622 0.5 276 767 239 0.708 147 253 68 59 98 0.205 47073 chr5 176930140 176930140 T C rs201537959 DOK3 Nonsynonymous SNV Q198R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.412 47074 chr5 137295346 137295346 T C FAM13B Nonsynonymous SNV H349R 0 0 0 0 0 0 0 0 0 0 0 0 1.367 47075 chr17 72308291 72308291 C A rs9908476 DNAI2 Synonymous SNV A536A 0.044 0.042 0.027 18 52 16 0.046 8 1 1 0 0 Benign 15.05 47076 chrX 2836037 2836037 G C rs211653 ARSD Nonsynonymous SNV S224C 0.304 0.294 0.177 145 357 113 0.372 52 49 18 13 25 2.356 47077 chr5 149212430 149212430 G A rs45520937 PPARGC1B Nonsynonymous SNV R226Q 0.049 0.047 0.037 23 58 18 0.059 11 0 0 0 2 0.001 47078 chrX 2942109 2942109 T C rs5939407 ARSH Synonymous SNV L317L 0.625 0.622 0.551 235 734 239 0.603 162 288 93 67 97 Benign 0.004 47079 chrX 30236878 30236878 G A rs2529541 MAGEB2 Nonsynonymous SNV E61K 0.904 0.888 0.922 358 1061 341 0.918 271 503 161 129 173 0.009 47080 chr5 149216256 149216256 C T rs45588534 PPARGC1B Synonymous SNV G707G 0.049 0.047 0.041 23 58 18 0.059 12 0 0 0 2 11.98 47081 chr5 133945288 133945288 C T rs140899111 SAR1B Synonymous SNV R107R 0.009 0 0.003 0 10 0 0 1 0 0 0 0 Likely benign 13.04 47082 chr17 32906038 32906038 G C rs117721431 C17orf102 0.01 0.026 0.017 11 12 10 0.028 5 0 0 0 1 13.56 47083 chrX 30236913 30236913 G A rs5973792 MAGEB2 Synonymous SNV A72A 0.258 0.224 0.17 102 303 86 0.262 50 97 24 17 35 7.012 47084 chr5 134076812 134076812 G A rs12657663 CAMLG Nonsynonymous SNV V78I 0.064 0.083 0.075 16 75 32 0.041 22 2 1 3 0 0.015 47085 chr5 137517354 137517354 T G rs1048957 KIF20A Synonymous SNV S104S 0.019 0.016 0.02 10 22 6 0.026 6 0 0 0 0 2.124 47086 chrX 30237003 30237003 C T rs2074793 MAGEB2 Synonymous SNV S102S 0.315 0.331 0.245 125 370 127 0.321 72 117 42 27 46 5.877 47087 chr5 149216304 149216304 C T rs45543631 PPARGC1B Synonymous SNV A723A 0.049 0.047 0.037 23 58 18 0.059 11 0 0 0 2 12.35 47088 chrX 30254376 30254376 T C rs2071309 MAGEB3 Nonsynonymous SNV I112T 0.85 0.893 0.864 328 998 343 0.841 254 455 162 120 153 0.001 47089 chr5 177019262 177019262 C G rs57960711 TMED9 Nonsynonymous SNV T16S 0.024 0.031 0.037 7 28 12 0.018 11 2 0 2 0 0.14 47090 chr5 54404070 54404070 A G rs887102692 GZMA Nonsynonymous SNV S159G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.004 47091 chr5 149323870 149323870 C A rs147010346 PDE6A Nonsynonymous SNV D123Y 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Uncertain significance 28.1 47092 chrX 30261002 30261002 A G rs2071311 MAGEB4 Synonymous SNV V250V 0.85 0.893 0.864 328 998 343 0.841 254 455 162 120 153 0.594 47093 chr17 32962064 32962064 C A rs111689642 TMEM132E Nonsynonymous SNV S645R 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 Benign 17.64 47094 chrX 30261158 30261158 G C rs2856733 MAGEB4 Synonymous SNV L302L 0.85 0.893 0.864 328 998 343 0.841 254 455 162 120 153 0.03 47095 chr4 91230149 91230149 A G rs146032287 CCSER1 Synonymous SNV A238A 0.028 0.047 0.044 10 33 18 0.026 13 0 0 0 0 2.529 47096 chrX 3028260 3028260 C T rs17051478 ARSF Synonymous SNV L453L 0.08 0.099 0.085 24 94 38 0.062 25 25 11 8 6 5.827 47097 chrX 3028289 3028289 C T rs5983011 ARSF Synonymous SNV D462D 0.078 0.099 0.085 24 92 38 0.062 25 25 11 8 6 9.443 47098 chrX 30577846 30577846 A C rs887369 CXorf21 Synonymous SNV V209V 0.739 0.747 0.833 298 867 287 0.764 245 369 127 115 132 0.002 47099 chrX 30872602 30872602 A G rs5927629 TAB3 Nonsynonymous SNV W394R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 9.602 47100 chr5 137754808 137754808 G A rs7706614 KDM3B Nonsynonymous SNV S1201N 0.048 0.057 0.041 24 56 22 0.062 12 1 0 1 2 15.85 47101 chrX 31089930 31089930 C T rs438870 FTHL17 Synonymous SNV V47V 0.133 0.112 0.105 49 156 43 0.126 31 41 11 9 14 7.684 47102 chrX 31165400 31165400 G A rs1800281 DMD Synonymous SNV L516L 0.014 0.003 0.007 2 16 1 0.005 2 5 0 0 0 Conflicting interpretations of pathogenicity 10.51 47103 chr5 137766066 137766066 G A rs61749634 KDM3B Synonymous SNV V1674V 0.048 0.057 0.041 24 56 22 0.062 12 1 0 1 2 11.35 47104 chrX 31496350 31496350 C T rs1800280 DMD Nonsynonymous SNV R208Q 0.957 0.958 0.959 376 1123 368 0.964 282 548 181 138 185 Benign 17.1 47105 chr5 13830766 13830766 C T rs769656114 DNAH5 Nonsynonymous SNV V2001I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24 47106 chrX 31893307 31893307 T G rs1800275 DMD, DMD Nonsynonymous SNV K1025Q 0.166 0.177 0.184 79 195 68 0.203 54 56 21 21 25 Benign 15.62 47107 chr5 168112927 168112927 G C rs35305517 SLIT3 Nonsynonymous SNV P1114R 0.028 0.021 0.027 12 33 8 0.031 8 0 0 0 0 0.464 47108 chrX 3189936 3189936 G A rs12559033 LINC01546 0 0 0.146 0 0 0 0 43 0 0 12 0 0.139 47109 chr5 54786796 54786796 T C rs71622181 PLPP1 Nonsynonymous SNV I69V 0.011 0.01 0.003 2 13 4 0.005 1 1 0 0 0 12.47 47110 chrX 32503194 32503194 T C rs228406 DMD Nonsynonymous SNV D874G 0.609 0.643 0.646 244 715 247 0.626 190 289 100 81 95 Benign 8.366 47111 chr5 149509446 149509446 C T rs41287110 PDGFRB Nonsynonymous SNV E421K 0.039 0.023 0.024 17 46 9 0.044 7 1 0 0 1 Benign 21.2 47112 chrX 32591931 32591931 T C rs5927083 DMD Synonymous SNV R537R 0.154 0.146 0.146 53 181 56 0.136 43 43 16 13 14 Benign 0.069 47113 chrX 34148806 34148844 GAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAGCG - FAM47A R518_L530del 0.474 0.427 0.398 188 556 164 0.482 117 213 64 54 79 47114 chrX 35820425 35820425 C T rs1410961 MAGEB16 Nonsynonymous SNV L38F 0.538 0.565 0.646 199 632 217 0.51 190 240 87 81 77 0.001 47115 chr5 178358857 178358857 C T rs61744382 ZFP2 Synonymous SNV T181T 0.095 0.102 0.095 22 111 39 0.056 28 6 1 0 0 8.456 47116 chrX 35820696 35820696 G A rs1410962 MAGEB16 Nonsynonymous SNV C128Y 0.538 0.565 0.646 199 632 217 0.51 190 240 87 81 77 0.003 47117 chr5 55086497 55086497 T G rs61748223 DDX4 Synonymous SNV T273T 0.029 0.029 0.024 9 34 11 0.023 7 0 0 0 0 7.342 47118 chrX 35820795 35820795 A G rs5973488 MAGEB16 Nonsynonymous SNV H161R 0.538 0.565 0.646 198 632 217 0.508 190 240 87 81 77 0.001 47119 chrX 35821055 35821055 A G rs4829390 MAGEB16 Nonsynonymous SNV M248V 0.537 0.563 0.646 200 631 216 0.513 190 239 86 81 77 0.022 47120 chr5 178409927 178409927 G A rs17078874 GRM6 Nonsynonymous SNV A807V 0.101 0.096 0.102 21 118 37 0.054 30 8 1 0 0 not provided 25.3 47121 chr5 149912527 149912527 C T rs2273232 NDST1 Synonymous SNV N343N 0.013 0.018 0.027 8 15 7 0.021 8 0 1 0 0 13.71 47122 chrX 35821056 35821056 T A rs4829391 MAGEB16 Nonsynonymous SNV M248K 0.537 0.563 0.646 200 631 216 0.513 190 239 86 81 77 0.041 47123 chr5 16177949 16177949 C T rs114849718 MARCHF11 Synonymous SNV R193R 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 10.64 47124 chrX 35821127 35821127 C T rs4829392 MAGEB16 Stop gain R272X 0.538 0.557 0.639 200 632 214 0.513 188 240 85 80 77 35 47125 chr5 162886028 162886028 C A rs213505 NUDCD2 Synonymous SNV T4T 0.258 0.24 0 83 303 92 0.213 0 38 10 0 4 9.691 47126 chrX 37932886 37932886 A G rs4827330 SYTL5 Synonymous SNV A163A 0.303 0.313 0.33 108 356 120 0.277 97 112 40 37 39 0.066 47127 chrX 37948832 37948832 A G rs4827331 SYTL5 Nonsynonymous SNV I275V 0.159 0.151 0.163 64 187 58 0.164 48 57 17 16 21 0.028 47128 chr5 162902516 162902516 T C rs299290 HMMR Nonsynonymous SNV V282A 0.242 0.232 0.293 82 284 89 0.21 86 37 11 8 4 0.002 47129 chr5 137211606 137211606 G C rs71578935 MYOT Nonsynonymous SNV E149Q 0.02 0.018 0.007 6 24 7 0.015 2 1 0 0 0 Benign/Likely benign 26.9 47130 chr5 56178111 56178111 A G rs3822625 MAP3K1 Synonymous SNV Q1028Q 0.119 0.094 0.058 40 140 36 0.103 17 6 1 0 1 0.377 47131 chr5 150227966 150227966 C A rs72553867 IRGM Nonsynonymous SNV T94K 0.026 0.026 0.061 7 30 10 0.018 18 1 0 0 0 15.26 47132 chrX 38013726 38013726 C T rs145370296 SRPX Synonymous SNV A380A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 Benign 20.2 47133 chr5 169533240 169533240 G A rs2277944 FOXI1 Synonymous SNV R93R 0.169 0.172 0.194 59 198 66 0.151 57 11 7 7 2 Benign 0.355 47134 chr5 162909687 162909687 G A rs17600938 HMMR Synonymous SNV K388K 0.091 0.094 0.116 26 107 36 0.067 34 6 4 2 2 11.53 47135 chrX 38268220 38268220 A G rs1800328 OTC Nonsynonymous SNV Q270R 0.101 0.063 0.065 40 119 24 0.103 19 35 6 6 13 Benign/Likely benign 25.6 47136 chr5 162909716 162909716 C T rs299295 HMMR Nonsynonymous SNV A398V 0.227 0.221 0.316 76 266 85 0.195 93 29 11 13 3 9.295 47137 chrX 39933339 39933339 A G rs5917933 BCOR Synonymous SNV D420D 0.834 0.833 0.844 332 979 320 0.851 248 441 150 119 154 Benign 0.002 47138 chrX 40506697 40506697 A G rs6610447 CXorf38 Synonymous SNV L26L 0.947 0.943 0.932 374 1112 362 0.959 274 538 176 133 181 11.41 47139 chr5 162910199 162910199 G C rs184181 HMMR-AS1 0.241 0.242 0.316 86 283 93 0.221 93 29 11 13 3 1.49 47140 chrX 40573157 40573157 G A rs6520683 MED14 Synonymous SNV D175D 0.147 0.161 0.167 44 172 62 0.113 49 49 16 15 10 11.76 47141 chr5 169680139 169680139 G C rs34192428 LCP2 Nonsynonymous SNV S410C 0.019 0.01 0.01 3 22 4 0.008 3 0 0 0 0 22.8 47142 chrX 41587218 41587218 T C rs1023065 GPR82 Synonymous SNV D313D 0.739 0.758 0.656 295 868 291 0.756 193 374 124 85 130 Likely benign 0.05 47143 chrX 43591036 43591036 G T rs6323 MAOA Synonymous SNV R297R 0.715 0.732 0.704 269 839 281 0.69 207 346 120 91 114 Benign 7.341 47144 chrX 43603391 43603391 T C rs1137070 MAOA Synonymous SNV D470D 0.713 0.724 0.694 267 837 278 0.685 204 344 118 90 113 Benign 0.275 47145 chrX 44401295 44401295 T G rs41298452 FUNDC1 Synonymous SNV A27A 0.053 0.073 0.054 22 62 28 0.056 16 16 7 4 6 8.508 47146 chr17 33806812 33806812 C A rs12451876 SLFN12L Synonymous SNV T139T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.16 47147 chr5 150578574 150578574 A G rs3734038 CCDC69 Synonymous SNV N101N 0.226 0.221 0.238 100 265 85 0.256 70 29 13 5 7 0.191 47148 chrX 46472826 46472826 G A rs3208940 SLC9A7 Synonymous SNV Y609Y 0.516 0.583 0.514 219 606 224 0.562 151 220 91 64 91 8.925 47149 chrX 46618321 46618321 C G rs1056846 SLC9A7 Synonymous SNV A48A 0.46 0.521 0.446 227 540 200 0.582 131 188 77 54 94 14.11 47150 chrX 47062534 47062534 G A rs2070169 UBA1 Nonsynonymous SNV R447H 0.162 0.161 0.221 58 190 62 0.149 65 53 15 24 15 Benign 12.55 47151 chr5 169812398 169812398 G A rs45574034 KCNMB1 Synonymous SNV C18C 0.011 0.016 0.014 8 13 6 0.021 4 0 0 0 0 Benign 10.46 47152 chr17 33875688 33875688 T A rs78364481 SLFN14 Nonsynonymous SNV Y770F 0.024 0.018 0.007 6 28 7 0.015 2 0 0 0 0 19.81 47153 chrX 47308224 47308224 A C rs2498170 ZNF41 Nonsynonymous SNV D229E 0.019 0.026 0.027 2 22 10 0.005 8 5 2 3 0 Benign 0.001 47154 chr5 170626735 170626735 A G rs35724654 RANBP17 Synonymous SNV V700V 0.141 0.195 0.119 64 166 75 0.164 35 10 5 5 4 1.186 47155 chr5 139927386 139927386 A C EIF4EBP3 Nonsynonymous SNV T22P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 47156 chr5 150666933 150666933 C A rs375396 SLC36A3 Synonymous SNV L194L 0.136 0.188 0.201 61 160 72 0.156 59 9 5 4 7 14.31 47157 chrX 47342920 47342920 C A rs5906405 LINC01560 0 0 0.31 0 0 0 0 91 0 0 36 0 8.518 47158 chrX 47343254 47343254 C T rs2071778 LINC01560 0 0 0.374 0 0 0 0 110 0 0 44 0 3.577 47159 chr5 171481667 171481667 G A rs56066852 STK10 Nonsynonymous SNV S853L 0.009 0.021 0 3 10 8 0.008 0 0 0 0 0 24.3 47160 chr5 137680763 137680763 G T rs151178605 FAM53C Nonsynonymous SNV R129L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.8 47161 chrX 47466361 47466361 A G rs1142636 SYN1 Synonymous SNV N170N 0.353 0.349 0.306 131 415 134 0.336 90 142 44 31 48 Benign 0.896 47162 chrX 47483800 47483800 G A rs1048118 CFP Synonymous SNV N428N 0.229 0.224 0.197 65 269 86 0.167 58 87 26 22 19 Benign 12.03 47163 chr5 64097145 64097145 C G rs7735338 CWC27 Nonsynonymous SNV P256A 0.247 0.227 0.024 105 290 87 0.269 7 51 12 3 17 0.001 47164 chrX 47918205 47918205 G A rs501128 ZNF630 Synonymous SNV P542P 0.618 0.641 0.66 261 726 246 0.669 194 287 101 81 113 0.304 47165 chrX 48418126 48418126 A G rs2293948 TBC1D25 Nonsynonymous SNV N293S 0.401 0.458 0.398 145 471 176 0.372 117 164 68 47 48 0.001 47166 chr5 150886768 150886768 G C rs145466001 FAT2 Nonsynonymous SNV S4155C 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Likely benign 20.6 47167 chrX 48418659 48418659 G A rs235836 TBC1D25 Nonsynonymous SNV A471T 0.401 0.458 0.398 145 471 176 0.372 117 164 68 47 48 0.027 47168 chr5 64748681 64748681 T C rs1309615 ADAMTS6 Synonymous SNV P232P 0.083 0.063 0.109 43 98 24 0.11 32 6 2 0 2 0.002 47169 chr5 100147569 100147569 T C ST8SIA4 Synonymous SNV G354G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.219 47170 chr5 172113235 172113235 C T rs747829 NEURL1B Synonymous SNV D271D 0.074 0.089 0.092 30 87 34 0.077 27 4 2 2 1 14.64 47171 chrX 48460314 48460314 A G rs235842 WDR13 Nonsynonymous SNV H233R 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.248 47172 chr17 34073391 34073391 C T rs149365305 GAS2L2 Synonymous SNV P375P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.56 47173 chrX 48690416 48690416 G T rs6520383 PCSK1N Synonymous SNV L150L 0.418 0.44 0.17 180 491 169 0.462 50 185 65 20 67 10.51 47174 chrX 48690749 48690749 C T rs11538178 PCSK1N Synonymous SNV E39E 0.091 0.12 0.122 34 107 46 0.087 36 25 14 13 8 12.87 47175 chrX 48751471 48751471 A G rs1128363 TIMM17B Synonymous SNV I76I 0.472 0.492 0.415 176 554 189 0.451 122 199 71 48 62 6.879 47176 chr5 6600150 6600150 G A rs3822434 NSUN2 Synonymous SNV D696D 0.152 0.151 0.105 47 178 58 0.121 31 12 2 1 2 Benign 5.179 47177 chrX 48847497 48847497 T C rs11545861 GRIPAP1 Synonymous SNV E161E 0.515 0.492 0.551 209 605 189 0.536 162 227 71 69 80 0.06 47178 chrX 48888074 48888074 T C rs3027472 TFE3 Synonymous SNV V336V 0.59 0.57 0.605 256 693 219 0.656 178 277 86 77 102 9.625 47179 chr5 175958583 175958583 T G rs553268338 RNF44 Nonsynonymous SNV T116P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.44 47180 chrX 49021052 49021052 C T rs12843494 MAGIX Synonymous SNV S68S 0.104 0.135 0.088 35 122 52 0.09 26 31 18 6 9 11.57 47181 chrX 49021256 49021256 A G rs5906744 MAGIX Nonsynonymous SNV H112R 0.997 1 0.997 389 1171 384 0.997 293 585 192 146 194 0.001 47182 chrX 49021537 49021537 G C rs5905720 MAGIX Nonsynonymous SNV V97L 0.997 1 0.997 389 1171 384 0.997 293 585 192 146 194 1.059 47183 chr5 66478919 66478919 C T rs5744526 CD180 Synonymous SNV S584S 0.013 0.01 0 1 15 4 0.003 0 0 0 0 0 Benign 12.48 47184 chrX 49022700 49022700 T C rs4824462 MAGIX Nonsynonymous SNV F247L 0.807 0.792 0.901 307 948 304 0.787 265 474 152 132 153 0.002 47185 chr5 150905485 150905485 C T rs36092108 FAT2 Synonymous SNV L3450L 0.038 0.042 0.061 4 45 16 0.01 18 1 0 0 0 15.13 47186 chr17 73702135 73702135 G A rs56144802 SAP30BP Synonymous SNV T220T 0.039 0.057 0.095 30 46 22 0.077 28 0 2 0 0 12.38 47187 chrX 49071964 49071964 A G rs2075866 CACNA1F Synonymous SNV H1092H 0.267 0.237 0.214 91 314 91 0.233 63 97 28 23 28 0.002 47188 chrX 49081291 49081291 G A rs2235127 CACNA1F Synonymous SNV G603G 0.236 0.221 0.197 78 277 85 0.2 58 80 25 21 23 5.043 47189 chrX 49103224 49103224 G A rs2294020 CCDC22 Synonymous SNV Q249Q 0.241 0.211 0.187 81 283 81 0.208 55 85 22 21 24 Benign 9.502 47190 chr5 169309814 169309814 G A rs115307165 INSYN2B Synonymous SNV T363T 0.014 0.013 0.007 14 16 5 0.036 2 0 0 0 0 Benign 0.012 47191 chrX 49767832 49767832 A G rs456615 MIR532 0 0 0.997 0 0 0 0 293 0 0 146 0 10.85 47192 chrX 49767835 49767835 A G rs456617 MIR532 0 0 0.997 0 0 0 0 293 0 0 146 0 Benign 8.32 47193 chrX 51150441 51150441 G T rs17854399 EZHIP Synonymous SNV T191T 0.14 0.174 0.163 54 164 67 0.138 48 41 19 13 19 1.285 47194 chrX 52825546 52825546 C G rs2806838 SPANXN5 Synonymous SNV L67L 0.942 0.94 0.837 354 1106 361 0.908 246 533 173 122 169 0.955 47195 chr5 150930186 150930186 C T rs2278370 FAT2 Nonsynonymous SNV G1515S 0.045 0.034 0.061 17 53 13 0.044 18 1 0 1 0 6.643 47196 chrX 53105890 53105890 G A rs17850567 GPR173 Synonymous SNV L29L 0.21 0.229 0.207 53 246 88 0.136 61 66 28 22 16 0.09 47197 chr5 176078805 176078805 C T rs35207938 TSPAN17 Synonymous SNV P63P 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 17.29 47198 chrX 53106865 53106865 C T rs11091720 GPR173 Synonymous SNV H354H 0.269 0.323 0.238 88 316 124 0.226 70 91 41 24 30 3.897 47199 chr17 73915853 73915853 C T rs61741708 FBF1 Synonymous SNV E678E 0.017 0.016 0.017 14 20 6 0.036 5 1 0 0 1 14.58 47200 chr5 150930345 150930345 C T rs2278371 FAT2 Nonsynonymous SNV V1462M 0.045 0.034 0.061 17 53 13 0.044 18 1 0 1 0 14.39 47201 chrX 53457622 53457622 T C rs1264013 RIBC1 Synonymous SNV T199T 0.62 0.589 0.595 236 728 226 0.605 175 284 87 73 96 0.049 47202 chr5 108380419 108380419 T C rs919771 FER Synonymous SNV D215D 0.146 0.099 0.184 55 171 38 0.141 54 16 4 5 3 6.555 47203 chrX 53563589 53563589 A G rs426298 HUWE1 Synonymous SNV G4059G 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 11.76 47204 chrX 53641647 53641647 T C rs6638360 HUWE1 Synonymous SNV S703S 0.556 0.539 0.585 208 653 207 0.533 172 242 77 71 81 Benign 5.912 47205 chrX 54209387 54209387 A G rs2495783 FAM120C Nonsynonymous SNV I82T 0.993 0.995 0.956 383 1166 382 0.982 281 583 191 140 191 0.297 47206 chrX 54784246 54784246 G A rs41306886 ITIH6 Nonsynonymous SNV T754M 0.013 0.003 0.014 9 15 1 0.023 4 2 0 1 2 3.138 47207 chr5 170883780 170883780 C T rs772362026 FGF18 Nonsynonymous SNV R199C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 47208 chrX 55287031 55287031 T G rs3761560 PAGE3 Synonymous SNV G85G 0.409 0.419 0.401 149 480 161 0.382 118 157 59 46 55 0.009 47209 chr5 176519485 176519485 C T rs138464768 FGFR4 Synonymous SNV D297D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.13 47210 chrX 55289774 55289774 T C rs4826381 PAGE3 Nonsynonymous SNV N35D 0.881 0.919 0.857 346 1034 353 0.887 252 476 168 120 164 0.002 47211 chr5 13944492 13944492 G A rs757712771 DNAH5 Nonsynonymous SNV T19M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 47212 chr5 176524627 176524627 C A rs147384774 FGFR4 Nonsynonymous SNV L747M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.52 47213 chrX 55479299 55479299 G A rs11545211 MAGEH1 Synonymous SNV G164G 0.371 0.396 0.378 137 436 152 0.351 111 141 52 43 48 0.075 47214 chr5 110092412 110092412 G A rs114859074 SLC25A46 Nonsynonymous SNV V211M 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 Likely benign 17.8 47215 chrX 55651001 55651001 T C rs2375465 FOXR2 Nonsynonymous SNV V286A 0.884 0.927 0.857 345 1038 356 0.885 252 486 168 121 163 0.002 47216 chrX 56763937 56763937 G A rs2009742 UQCRBP1 0 0 0.105 0 0 0 0 31 0 0 11 0 4.212 47217 chr17 74148444 74148444 C G rs61760885 RNF157 Nonsynonymous SNV C616S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 24 47218 chrX 57313357 57313357 T C rs2516023 FAAH2 Synonymous SNV G33G 0.462 0.411 0.497 156 542 158 0.4 146 186 57 61 56 0.017 47219 chrX 57405163 57405163 T C rs4826543 FAAH2 Synonymous SNV R204R 0.998 0.995 0.99 389 1172 382 0.997 291 586 191 145 194 0.046 47220 chr5 153709273 153709273 A G rs34449026 GALNT10 Synonymous SNV V181V 0.014 0.016 0.003 7 16 6 0.018 1 1 0 0 1 9.457 47221 chrX 5821786 5821786 G A rs7049300 NLGN4X Synonymous SNV T311T 0.153 0.185 0.16 46 180 71 0.118 47 43 26 17 12 Benign 5.438 47222 chr5 173036257 173036257 A G rs77014290 BOD1 Synonymous SNV S181S 0.034 0.021 0.01 16 40 8 0.041 3 0 0 0 0 11.1 47223 chrX 65382685 65382685 T C rs5919015 HEPH Nonsynonymous SNV V39A 0.815 0.841 0.884 338 957 323 0.867 260 429 146 124 157 0.001 47224 chr5 173036394 173036394 C T rs72822197 BOD1 Nonsynonymous SNV V136M 0.123 0.102 0.068 45 144 39 0.115 20 0 0 0 0 32 47225 chrX 65427040 65427040 T C rs806607 HEPH Synonymous SNV Y576Y 0.207 0.219 0.228 94 243 84 0.241 67 63 25 21 37 0.026 47226 chrX 65427124 65427124 A G rs809363 HEPH Synonymous SNV T604T 0.198 0.208 0.207 80 232 80 0.205 61 58 23 18 30 6.927 47227 chr5 173036437 173036437 - TGAACCACACTCTGCCTCAAACCATTTCGCAATTGGTTTTTGTTCATTGTAGGATTCCATTCCTG BOD1 Stop gain Q121Hfs*8 0.047 0.031 0.014 14 55 12 0.036 4 0 0 0 0 47228 chrX 65822607 65822607 T C rs1385698 EDA2R Nonsynonymous SNV Y35C 0.998 1 0.99 389 1172 384 0.997 291 585 192 145 194 0.958 47229 chr5 173491300 173491300 G A rs17076802 NSG2 Synonymous SNV P65P 0.127 0.094 0.085 43 149 36 0.11 25 8 1 1 0 13.58 47230 chrX 65824986 65824986 C T rs1385699 EDA2R Nonsynonymous SNV R57K 0.796 0.789 0.769 297 934 303 0.762 226 407 134 104 132 13.04 47231 chrX 66765159 66765164 GCAGCA - rs772149730 AR Q79_Q80del 0.031 0.018 0.031 11 36 7 0.028 9 13 3 4 4 47232 chr5 180659796 180659796 G A rs35719413 TRIM41 Synonymous SNV A349A 0.037 0.031 0.027 12 43 12 0.031 8 0 0 0 1 10.89 47233 chr5 111611059 111611059 G A rs144670970 EPB41L4A Nonsynonymous SNV A100V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.1 47234 chr5 174936038 174936038 A G rs35420613 SFXN1 Synonymous SNV Q56Q 0.093 0.096 0.051 41 109 37 0.105 15 5 2 2 1 4.7 47235 chrX 67938269 67938269 G A rs55927581 STARD8 Nonsynonymous SNV G425R 0.026 0.016 0.037 6 31 6 0.015 11 9 1 2 1 10.27 47236 chrX 68381912 68381912 G A rs3761646 PJA1 Synonymous SNV G335G 0.105 0.078 0.071 37 123 30 0.095 21 30 9 7 9 7.305 47237 chr17 36963226 36963226 G T rs3785452 CWC25 Synonymous SNV R232R 0.006 0.003 0.027 11 7 1 0.028 8 0 0 0 0 6.463 47238 chrX 68725640 68725640 T C rs1171942 FAM155B Nonsynonymous SNV L172P 0.228 0.208 0.248 109 268 80 0.279 73 84 27 25 36 0.049 47239 chrX 69510335 69510335 C T rs1199470 KIF4A Synonymous SNV P9P 0.973 0.977 0.952 385 1142 375 0.987 280 566 186 138 190 18.33 47240 chr5 112175240 112175240 G C rs1801166 APC Nonsynonymous SNV E1299Q 0.003 0.008 0.007 7 3 3 0.018 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.737 47241 chrX 69652762 69652762 A G rs2296542 GDPD2 Synonymous SNV R434R 0.901 0.924 0.905 355 1058 355 0.91 266 505 171 131 169 2.516 47242 chrX 6975752 6975752 G T rs5978220 PUDP Nonsynonymous SNV T208N 0.364 0.362 0.347 143 427 139 0.367 102 133 46 37 50 1.151 47243 chr17 37101292 37101292 C T rs140638953 FBXO47 Synonymous SNV T238T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.97 47244 chr5 1880865 1880865 T C rs4975753 IRX4 Synonymous SNV P127P 0.242 0.247 0.265 96 284 95 0.246 78 42 14 12 13 0.335 47245 chrX 6975782 6975782 C G rs868756 PUDP Nonsynonymous SNV C198S 0.592 0.589 0.578 226 695 226 0.579 170 264 89 71 89 1.777 47246 chr5 1882129 1882129 T G rs2232374 IRX4 Synonymous SNV G30G 0.237 0.25 0.259 92 278 96 0.236 76 41 14 10 11 0.015 47247 chr5 112176556 112176556 G A rs34506289 APC Synonymous SNV A1737A 0.003 0.008 0.007 7 3 3 0.018 2 0 0 0 0 Benign/Likely benign 6.368 47248 chrX 69774517 69774517 A T rs4844240 TEX11 Synonymous SNV T758T 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 0.039 47249 chrX 6995315 6995315 C T rs2379206 PUDP Synonymous SNV P152P 0.599 0.589 0.578 228 703 226 0.585 170 268 89 71 89 8.554 47250 chrX 70146398 70146398 A G rs4360450 SLC7A3 Synonymous SNV S533S 0.598 0.609 0.619 210 702 234 0.538 182 273 99 75 87 7.687 47251 chr5 71491568 71491568 G A rs35473133 MAP1B Nonsynonymous SNV A670T 0.031 0.013 0.017 7 36 5 0.018 5 0 0 0 0 0.699 47252 chrX 70324157 70324157 C T rs1130009 CXorf65 Synonymous SNV A139A 0.405 0.404 0.371 194 476 155 0.497 109 165 55 44 74 12.13 47253 chrX 70349947 70349947 A C rs5030619 MED12 Synonymous SNV P1310P 0.394 0.385 0.367 184 463 148 0.472 108 154 53 45 70 Benign 0.262 47254 chr5 71492779 71492779 T C rs374296149 MAP1B Synonymous SNV D1073D 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 0.02 47255 chrX 70460814 70460814 G A rs142437272 ZMYM3 Synonymous SNV R1343R 0.004 0 0.014 0 5 0 0 4 2 0 1 0 Conflicting interpretations of pathogenicity 9.998 47256 chr5 71494931 71494931 A C rs13153166 MAP1B Nonsynonymous SNV S1791R 0.056 0.044 0.024 10 66 17 0.026 7 1 0 0 0 0.004 47257 chrX 71349753 71349753 G A rs12397326 RTL5 Synonymous SNV R546R 0.731 0.75 0.67 294 858 288 0.754 197 369 122 87 129 7.186 47258 chrX 71349774 71349774 T C rs12393722 RTL5 Synonymous SNV G539G 0.739 0.76 0.687 296 867 292 0.759 202 373 124 89 130 0.225 47259 chrX 71363415 71363415 C T rs6624597 NHSL2 Synonymous SNV P1223P 0.996 1 0.99 389 1169 384 0.997 291 584 192 145 194 10.66 47260 chrX 71379702 71379702 T C rs7884806 FLJ44635 Nonsynonymous SNV I8T 0.744 0.75 0.67 288 874 288 0.738 197 378 124 86 126 5.066 47261 chr5 71756670 71756670 C T rs2278600 ZNF366 Synonymous SNV E218E 0.191 0.169 0.177 76 224 65 0.195 52 23 5 7 12 6.24 47262 chr5 140176064 140176064 G T rs139738142 PCDHA2 Synonymous SNV S505S 0.017 0.008 0.014 4 20 3 0.01 4 0 0 0 0 10.56 47263 chrX 71379853 71379853 C T rs7880917 FLJ44635 Synonymous SNV S58S 0.744 0.75 0.67 287 874 288 0.736 197 378 124 86 125 9.477 47264 chr5 140552585 140552585 G C rs28470552 PCDHB7 Nonsynonymous SNV G57R 0.035 0.013 0.027 15 41 5 0.038 8 0 0 0 1 4.022 47265 chrX 71401607 71401607 G A rs6525589 PIN4 Nonsynonymous SNV R16Q 0.947 0.938 0.752 357 1112 360 0.915 221 539 172 109 173 9.452 47266 chr5 140552975 140552975 G A rs17096946 PCDHB7 Nonsynonymous SNV E187K 0.026 0.005 0.027 13 30 2 0.033 8 0 0 0 1 12.15 47267 chr5 72348272 72348272 A G rs185435 FCHO2 Nonsynonymous SNV M338V 0.155 0.154 0.146 57 182 59 0.146 43 20 6 1 6 4.26 47268 chrX 71401614 71401614 C A rs7058353 PIN4 Nonsynonymous SNV S18R 0.947 0.938 0.793 357 1112 360 0.915 233 539 172 115 173 0.222 47269 chr17 74387455 74387455 C T rs34070229 UBE2O Nonsynonymous SNV A1150T 0.007 0.016 0.02 6 8 6 0.015 6 0 0 0 0 17.8 47270 chr5 112384814 112384814 G A rs374781912 MCC Synonymous SNV S687S 0 0.005 0 0 0 2 0 0 0 0 0 0 8.576 47271 chrX 71493691 71493691 C T rs7580 RPS4X Synonymous SNV L164L 0.744 0.75 0.728 289 874 288 0.741 214 377 124 96 127 14.34 47272 chr5 112406814 112406814 C T rs35555142 MCC Synonymous SNV A444A 0.006 0.01 0.007 5 7 4 0.013 2 0 0 0 0 Benign 19.88 47273 chrX 71521867 71521867 G C rs3012627 CITED1 Nonsynonymous SNV H96Q 0.924 0.896 0.922 369 1085 344 0.946 271 514 166 131 180 0.224 47274 chr17 74387650 74387650 C T rs368318418 UBE2O Nonsynonymous SNV D1085N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 34 47275 chrX 73641569 73641569 T C rs6647476 SLC16A2 Nonsynonymous SNV S33P 0.266 0.297 0.378 104 312 114 0.267 111 108 38 41 38 Benign 0.271 47276 chr5 156770117 156770117 G A rs144888112 FNDC9 Nonsynonymous SNV P143L 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 24.9 47277 chr5 112406928 112406928 C A rs62373350 MCC Synonymous SNV R406R 0.006 0.01 0.007 5 7 4 0.013 2 0 0 0 0 Benign 11.39 47278 chr5 140579367 140579367 G A rs917535 PCDHB11 Nonsynonymous SNV R7H 0.034 0.013 0.027 15 40 5 0.038 8 0 0 0 1 10.54 47279 chrX 73960569 73960569 T C rs201434271 NEXMIF Nonsynonymous SNV S1275G 0.002 0.008 0.003 6 2 3 0.015 1 1 1 0 2 Conflicting interpretations of pathogenicity 0.01 47280 chr5 112437438 112437438 T G rs62374708 MCC Synonymous SNV R276R 0.011 0.013 0.01 6 13 5 0.015 3 0 0 0 0 12.96 47281 chr5 140579834 140579834 G A rs61743184 PCDHB11 Nonsynonymous SNV G163R 0.025 0.005 0.027 10 29 2 0.026 8 0 0 0 0 28.2 47282 chr5 72868447 72868447 T C rs16870610 UTP15 Synonymous SNV D79D 0.06 0.057 0.044 22 70 22 0.056 13 1 1 1 0 11.06 47283 chrX 74494470 74494470 T G rs4892396 UPRT Synonymous SNV R127R 1 1 0.99 388 1174 384 0.995 291 587 192 145 193 12.51 47284 chr5 140603923 140603923 C T rs61978583 PCDHB14 Synonymous SNV F282F 0.011 0.005 0.014 3 13 2 0.008 4 0 0 0 0 10.21 47285 chrX 74961968 74961968 G A rs5938183 TTC3P1 0 0 0.782 0 0 0 0 230 0 0 106 0 9.496 47286 chr5 176637471 176637471 G A rs28932177 NSD1 Nonsynonymous SNV A691T 0.025 0.018 0.027 6 29 7 0.015 8 0 0 0 0 Benign 10.74 47287 chrX 77298857 77298857 G A rs4826245 ATP7A Nonsynonymous SNV E1272K 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 Benign 10.98 47288 chr5 158750329 158750329 C T rs3213096 IL12B Nonsynonymous SNV V33I 0.022 0.023 0.027 6 26 9 0.015 8 0 0 0 0 Benign 15.52 47289 chrX 77528317 77528317 G A rs320995 CYSLTR1 Synonymous SNV F309F 0.773 0.755 0.714 284 907 290 0.728 210 400 130 91 120 0.17 47290 chr5 73072501 73072501 G T rs184555497 ARHGEF28 Nonsynonymous SNV D274Y 0.016 0.01 0.003 3 19 4 0.008 1 0 0 0 0 29 47291 chrX 77913569 77913569 G A rs4077512 RTL3 Nonsynonymous SNV P117S 0.166 0.141 0.139 77 195 54 0.197 41 52 13 14 24 0.009 47292 chr5 176638506 176638506 G C rs28932179 NSD1 Nonsynonymous SNV A1036P 0.025 0.018 0.031 6 29 7 0.015 9 0 0 0 0 Benign 0.006 47293 chrX 78426988 78426988 T C rs3827440 GPR174 Nonsynonymous SNV S162P 0.571 0.596 0.626 211 670 229 0.541 184 254 90 79 80 0.002 47294 chr5 112888882 112888882 A T rs72805422 YTHDC2 Nonsynonymous SNV T265S 0.047 0.039 0.211 10 55 15 0.026 62 12 3 7 2 6.187 47295 chr5 176721119 176721119 G A rs35848863 NSD1 Nonsynonymous SNV M2250I 0.049 0.036 0.051 17 57 14 0.044 15 2 0 0 0 Benign 15.51 47296 chr5 32786389 32786389 A G rs2270915 NPR3 Nonsynonymous SNV N265D 0.192 0.174 0.143 84 225 67 0.215 42 21 9 6 4 13.39 47297 chrX 79698593 79698593 C G rs1113265 TENT5D Nonsynonymous SNV D185E 0.702 0.688 0.616 264 824 264 0.677 181 351 106 74 114 0.001 47298 chr5 176721151 176721151 T C rs34165241 NSD1 Nonsynonymous SNV M2261T 0.049 0.036 0.051 17 57 14 0.044 15 2 0 0 0 Benign 0.001 47299 chrX 79932387 79932387 C A rs146425236 BRWD3 Synonymous SNV G1710G 0.012 0.018 0.003 1 14 7 0.003 1 3 2 0 0 Benign 9.238 47300 chr5 159703394 159703394 C T rs58686609 CCNJL Synonymous SNV R102R 0.026 0.036 0 16 31 14 0.041 0 6 1 0 2 7.104 47301 chrX 79943569 79943569 T C rs3122407 BRWD3 Nonsynonymous SNV K1288R 1 1 0.99 389 1174 384 0.997 291 587 192 145 194 Benign 7.363 47302 chrX 82764040 82764040 A G rs5921978 POU3F4 Synonymous SNV E236E 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 10.92 47303 chr5 33549350 33549350 C G rs112196098 ADAMTS12 Nonsynonymous SNV E1337Q 0.015 0.013 0.003 7 18 5 0.018 1 0 0 0 0 11.95 47304 chrX 82764042 82764042 G C rs5921979 POU3F4 Nonsynonymous SNV G237A 1 1 0.997 389 1174 384 0.997 293 587 192 146 194 Benign 10.04 47305 chr5 140856058 140856058 C T rs143278253 PCDHGC3 Synonymous SNV I125I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 47306 chr5 33549374 33549374 G T rs77581578 ADAMTS12 Nonsynonymous SNV P1329T 0.015 0.013 0.003 7 18 5 0.018 1 0 0 0 0 25.9 47307 chr5 160033864 160033864 C T rs184625643 ATP10B Nonsynonymous SNV R1023Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 29.5 47308 chrX 83723541 83723541 A G rs35161124 HDX Nonsynonymous SNV F339S 0.2 0.216 0.184 86 235 83 0.221 54 64 25 20 28 19.46 47309 chrX 84363140 84363140 A G rs10126146 SATL1 Nonsynonymous SNV W279R 0.712 0.727 0.731 308 836 279 0.79 215 363 122 96 138 0.001 47310 chr5 73179672 73179672 C T rs3749645 ARHGEF28 Synonymous SNV Y693Y 0.129 0.141 0.146 58 152 54 0.149 43 8 5 2 5 Benign 11.69 47311 chrX 84563135 84563135 T A rs363774 POF1B Nonsynonymous SNV M349L 0.794 0.758 0.786 323 932 291 0.828 231 416 129 106 149 Benign 10.56 47312 chr5 141029021 141029021 G A FCHSD1 Stop gain R106X 0 0 0 0 0 0 0 0 0 0 0 0 36 47313 chr5 115177207 115177207 T C rs74844425 ATG12 Nonsynonymous SNV I15V 0.036 0.029 0.031 8 42 11 0.021 9 0 0 0 0 0.003 47314 chrX 86887244 86887244 C T rs222084 KLHL4 Synonymous SNV T453T 0.785 0.779 0.745 287 922 299 0.736 219 413 135 101 129 10.87 47315 chrX 88008423 88008423 A C rs5940915 CPXCR1 Nonsynonymous SNV Y3S 0.819 0.813 0.864 323 962 312 0.828 254 457 150 121 152 10.34 47316 chrX 96139406 96139406 G A rs2642219 RPA4 Nonsynonymous SNV A33T 0.302 0.326 0.286 97 354 125 0.249 84 109 42 31 29 0.538 47317 chr17 76162029 76162029 C A rs200942539 C17orf99 Nonsynonymous SNV P234T 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 0.327 47318 chrX 96139459 96139459 T C rs2642218 RPA4 Synonymous SNV N50N 0.302 0.326 0.286 97 354 125 0.249 84 109 42 31 29 0.013 47319 chr5 179200909 179200909 C G rs62406189 MAML1 Synonymous SNV A694A 0.014 0.016 0.031 6 17 6 0.015 9 0 0 0 0 11.19 47320 chrX 96139729 96139729 T A rs61752459 RPA4 Synonymous SNV L140L 0.018 0.031 0.02 1 21 12 0.003 6 5 3 1 0 0.642 47321 chrX 9859098 9859098 A G rs6640543 SHROOM2 Synonymous SNV P133P 0.873 0.867 0.905 349 1025 333 0.895 266 475 155 128 166 0.445 47322 chrX 9935526 9935526 G T rs5934730 CLDN34 Synonymous SNV S43S 0.43 0.526 0.568 181 505 202 0.464 167 173 74 68 70 0.079 47323 chr5 141236929 141236929 C T rs150884992 PCDH1 Synonymous SNV P1069P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.05 47324 chrX 9935844 9935844 C T rs5934731 CLDN34 Synonymous SNV Y149Y 0.445 0.529 0.582 185 523 203 0.474 171 180 74 71 73 4.639 47325 chrX 9935851 9935851 G A rs141064697 CLDN34 Nonsynonymous SNV V152I 0.009 0.013 0.017 13 10 5 0.033 5 2 1 1 4 0.002 47326 chr5 141248963 141248963 T G rs12515587 PCDH1 Nonsynonymous SNV H41P 0.132 0.125 0.15 73 155 48 0.187 44 11 3 4 6 5.237 47327 chrX 99849017 99849017 G A rs2073162 TNMD Synonymous SNV V102V 0.358 0.372 0.381 161 420 143 0.413 112 138 54 41 58 7.199 47328 chrX 99890204 99890204 C T rs1802288 TSPAN6 Nonsynonymous SNV A20T 0.17 0.19 0.252 64 200 73 0.164 74 58 20 27 14 29.9 47329 chrX 99941705 99941705 T C rs2022039 SYTL4 Nonsynonymous SNV I420V 0.993 0.997 0.986 387 1166 383 0.992 290 580 191 144 192 0.001 47330 chr5 74400386 74400386 G C rs961098 ANKRD31 Nonsynonymous SNV D1609E 0.244 0.26 0.228 94 287 100 0.241 67 35 11 8 11 8.663 47331 chr5 140347703 140347703 C T rs141928119 PCDHAC2 Nonsynonymous SNV S451F 0.013 0.005 0.01 1 15 2 0.003 3 0 0 0 0 26.3 47332 chr5 140562739 140562739 G A rs61743469 PCDHB16 Nonsynonymous SNV R202Q 0.043 0.057 0.051 23 50 22 0.059 15 2 0 0 0 34 47333 chr5 121356189 121356189 T A rs61734326 SRFBP1 Nonsynonymous SNV F253L 0.028 0.026 0.031 4 33 10 0.01 9 0 0 0 0 0.698 47334 chr5 74506658 74506658 C T rs2219745 ANKRD31 Synonymous SNV L107L 0.267 0.279 0.065 104 314 107 0.267 19 42 12 4 13 11.64 47335 chr5 140580102 140580102 G T rs369767792 PCDHB11 Nonsynonymous SNV R252L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.074 47336 chr5 180219304 180219304 C T rs7726005 MGAT1 Nonsynonymous SNV R223Q 0.11 0.099 0.143 47 129 38 0.121 42 6 3 3 2 17.14 47337 chr5 1443162 1443162 G A rs778617693 SLC6A3 Nonsynonymous SNV R51W 0 0 0 0 0 0 0 0 0 0 0 0 20.8 47338 chr5 167858371 167858371 G T rs3822660 WWC1 Nonsynonymous SNV M734I 0.051 0.047 0.105 22 60 18 0.056 31 2 0 4 1 10.31 47339 chr5 74951901 74951901 G A rs7717355 ANKDD1B Synonymous SNV T315T 0.138 0.141 0.126 48 162 54 0.123 37 10 6 1 2 11.14 47340 chr5 1443199 1443199 G A rs6350 SLC6A3 Synonymous SNV N38N 0.072 0.096 0.095 41 84 37 0.105 28 0 1 1 2 Benign 1.919 47341 chr5 167858372 167858372 T G rs3822659 WWC1 Nonsynonymous SNV S735A 0.051 0.047 0.105 22 60 18 0.056 31 2 0 4 1 23 47342 chr5 122361517 122361517 C T rs143084462 PPIC Nonsynonymous SNV G158S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 35 47343 chr5 140724888 140724888 C G rs200111367 PCDHGA3 Nonsynonymous SNV P430A 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 23.1 47344 chr5 180376937 180376937 C T rs151174174 BTNL8 Nonsynonymous SNV P183L 0.009 0.008 0.01 6 10 3 0.015 3 2 0 1 2 23.8 47345 chr5 35965970 35965970 A C rs3756669 UGT3A1 Nonsynonymous SNV C121G 0.162 0.117 0.112 44 190 45 0.113 33 17 3 2 3 23.5 47346 chr10 101455814 101455814 C T rs61744356 ENTPD7 Synonymous SNV F315F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 16.74 47347 chr5 180627085 180627085 T C rs749832431 TRIM7 Synonymous SNV G23G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 47348 chr17 76557943 76557943 G A rs1108366 DNAH17 Synonymous SNV Y563Y 0.14 0.122 0.116 59 164 47 0.151 34 16 3 3 4 0.185 47349 chr5 178460597 178460597 A G rs530641022 ZNF879 Nonsynonymous SNV S550G 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 47350 chr5 38933482 38933482 C G rs34080825 OSMR Nonsynonymous SNV P959R 0.022 0.031 0.024 5 26 12 0.013 7 0 0 1 0 17.21 47351 chr5 168244447 168244447 C G rs4867964 SLIT3 Synonymous SNV L217L 0.132 0.161 0.143 51 155 62 0.131 42 9 7 2 2 14.48 47352 chr5 145719414 145719414 G T POU4F3 Nonsynonymous SNV A142S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.415 47353 chr5 1235627 1235627 C T rs74919274 SLC6A18 Synonymous SNV A157A 0.018 0.018 0.02 10 21 7 0.026 6 0 0 0 0 Benign 18.96 47354 chr5 19473428 19473428 T G rs557328287 CDH18 Synonymous SNV S760S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.84 47355 chr5 145895394 145895394 G A rs114285050 GPR151 Stop gain R95X 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign 36 47356 chr5 146258290 146258290 - GCTGCTGCTGCTGCT rs142461655 PPP2R2B S19_C20insSSSSS 0.086 0.094 0 45 101 36 0.115 0 8 3 0 3 47357 chr5 40841572 40841573 TT - rs141244584 CARD6 L30Rfs*11 0.037 0.06 0.014 13 43 23 0.033 4 0 0 0 0 47358 chr5 140812373 140812373 A G rs755248654 PCDHGA12 Nonsynonymous SNV N683D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 47359 chr10 102116502 102116502 G A rs140338666 SCD Synonymous SNV L287L 0 0 0.01 0 0 0 0 3 0 0 0 0 9.714 47360 chr5 126791256 126791256 G A rs56157640 MEGF10 Synonymous SNV E1063E 0.018 0.008 0.003 6 21 3 0.015 1 0 0 0 0 Benign/Likely benign 9.343 47361 chr5 7835555 7835555 C G rs6883562 C5orf49 Nonsynonymous SNV Q68H 0.232 0.208 0.262 109 272 80 0.279 77 31 12 9 12 25.8 47362 chr5 31294069 31294069 T C rs72749696 CDH6 Synonymous SNV L77L 0.016 0.016 0.01 8 19 6 0.021 3 1 1 0 0 12.68 47363 chr5 32037369 32037369 C T rs150538926 PDZD2 Synonymous SNV C480C 0.009 0.018 0.017 6 11 7 0.015 5 0 0 0 1 10.6 47364 chr5 147499891 147499891 G T rs2303070 SPINK5 Nonsynonymous SNV E825D 0.133 0.13 0.122 51 156 50 0.131 36 12 3 2 4 Benign 11.84 47365 chr5 141059360 141059360 G T rs77275946 ARAP3 Nonsynonymous SNV P185H 0.026 0.039 0.048 4 30 15 0.01 14 0 0 0 0 24.6 47366 chr5 7867478 7867480 ATA - rs559182247 FASTKD3 I240del 0.015 0.013 0.007 5 18 5 0.013 2 0 0 0 0 47367 chr5 170239112 170239112 C A rs1063310 GABRP Nonsynonymous SNV F391L 0.245 0.279 0.221 99 288 107 0.254 65 41 14 9 12 18.07 47368 chr5 33462034 33462034 G A rs3736393 TARS Synonymous SNV A551A 0.036 0.029 0.048 5 42 11 0.013 14 1 0 0 0 15.22 47369 chr17 77768981 77768981 G A rs143202450 CBX8 Nonsynonymous SNV P208L 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 0.047 47370 chr5 141307833 141307833 T C rs10036567 DELE1 Nonsynonymous SNV F128L 0.101 0.104 0.085 38 119 40 0.097 25 8 3 1 0 7.344 47371 chr17 77807917 77807917 - GCCGCC rs754126884 CBX4 A510_P511insAA 0.089 0.099 0.126 42 105 38 0.108 37 4 3 1 1 47372 chr5 33549387 33549387 G A rs61748195 ADAMTS12 Synonymous SNV A1324A 0.114 0.133 0.078 38 134 51 0.097 23 7 1 1 0 13.52 47373 chr5 141309265 141309265 C T rs10078802 DELE1 Synonymous SNV N177N 0.101 0.104 0.078 38 119 40 0.097 23 8 3 1 0 13.77 47374 chr5 79027734 79027734 C T rs115180914 CMYA5 Nonsynonymous SNV T1049I 0.024 0.026 0.017 6 28 10 0.015 5 0 1 0 0 10.53 47375 chr5 173371980 173371980 A C rs151173872 CPEB4 Synonymous SNV S406S 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 0.944 47376 chr5 141335011 141335011 C T rs145015864 PCDH12 Synonymous SNV A802A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.73 47377 chr17 78041353 78041353 C T rs572933884 CCDC40 Nonsynonymous SNV R538C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.315 47378 chr5 173416495 173416495 G T rs201509743 C5orf47 Nonsynonymous SNV V77F 0.009 0.005 0.017 6 11 2 0.015 5 0 0 0 0 22.9 47379 chr5 42695025 42695025 T A rs138491809 GHR Synonymous SNV T69T 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.51 47380 chr17 78063996 78063996 A T CCDC40 Nonsynonymous SNV H964L 0.011 0.008 0.01 4 13 3 0.01 3 0 0 0 0 1.286 47381 chr17 78069097 78069097 G A rs1982243 CCDC40 Synonymous SNV K956K 0.029 0.026 0.041 6 34 10 0.015 12 1 0 1 0 Benign 14.72 47382 chr5 43294192 43294192 C T rs56257144 HMGCS1 Synonymous SNV L341L 0.124 0.18 0.129 42 146 69 0.108 38 16 6 3 1 16.1 47383 chr17 78073485 78073485 G A rs61740509 CCDC40 Nonsynonymous SNV V1114M 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign/Likely benign 24 47384 chr5 176004471 176004471 G A rs35538480 CDHR2 Synonymous SNV R422R 0.012 0.008 0.01 6 14 3 0.015 3 0 0 0 0 0.912 47385 chr5 148618835 148618835 T A rs114548064 ABLIM3 Nonsynonymous SNV S357T 0.012 0.013 0.003 6 14 5 0.015 1 0 0 0 0 16.47 47386 chr5 131911535 131911535 A C rs28903085 RAD50 Nonsynonymous SNV I94L 0.005 0.01 0 0 6 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.606 47387 chr5 148687152 148687152 G A rs17854053 AFAP1L1 Synonymous SNV T208T 0.048 0.029 0.037 23 56 11 0.059 11 2 1 0 0 13.99 47388 chr5 43656024 43656024 T C rs56193661 NNT Synonymous SNV A583A 0.04 0.036 0.065 26 47 14 0.067 19 0 1 0 3 8.583 47389 chr10 105178380 105178380 G A rs61751510 PDCD11 Nonsynonymous SNV E699K 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 10.05 47390 chr5 176079877 176079877 T C rs17624798 TSPAN17 Nonsynonymous SNV I74T 0.015 0.013 0.003 7 18 5 0.018 1 0 0 0 0 24.3 47391 chr5 132042146 132042146 C T rs3798130 KIF3A Nonsynonymous SNV A412T 0.078 0.068 0.075 28 91 26 0.072 22 10 2 2 1 19.12 47392 chr5 132083458 132083458 G C rs803056 CCNI2 Nonsynonymous SNV A91P 0.082 0.073 0.095 25 96 28 0.064 28 10 1 1 0 1.973 47393 chr5 176316455 176316455 C T rs35610191 HK3 Nonsynonymous SNV G281R 0.02 0.013 0.014 8 24 5 0.021 4 1 0 0 0 not provided 16.04 47394 chr5 132099999 132099999 A G rs30507 SEPTIN8 Synonymous SNV Y88Y 0.119 0.112 0.109 36 140 43 0.092 32 10 1 1 0 1.082 47395 chr5 176382995 176382995 G A rs3733876 UIMC1 Nonsynonymous SNV P435L 0.069 0.076 0.095 26 81 29 0.067 28 3 1 0 0 22.9 47396 chr5 79950724 79950724 - CCGCAGCGC rs758718643 MSH3 P63_P64insAAP 0.064 0.099 0.112 23 75 38 0.059 33 10 3 0 1 47397 chr5 146258290 146258290 - GCTGCTGCTGCT rs142461655 PPP2R2B S19_C20insSSSS 0.09 0.109 0.01 39 106 42 0.1 3 4 3 1 2 47398 chr5 180631778 180631778 A G rs2770944 TRIM7 Synonymous SNV A111A 0.049 0.078 0.017 23 57 30 0.059 5 0 2 1 0 6.751 47399 chr5 180651231 180651231 G A rs6601178 TRIM41 Nonsynonymous SNV A78T 0.037 0.052 0.051 14 43 20 0.036 15 0 2 1 0 18.41 47400 chr5 82815170 82815170 A G rs61749613 VCAN Nonsynonymous SNV K349E 0.049 0.044 0.051 18 58 17 0.046 15 0 0 0 0 Benign 23.5 47401 chr10 105807909 105807909 C T rs140657237 MIR936 0.018 0.003 0.017 8 21 1 0.021 5 0 0 0 0 7.171 47402 chr5 82815408 82815408 G A rs2287926 VCAN Nonsynonymous SNV G428D 0.156 0.161 0.109 72 183 62 0.185 32 11 5 3 8 Benign 8.011 47403 chr10 105815637 105815637 C T rs150738577 COL17A1 Synonymous SNV A530A 0.012 0.003 0.014 6 14 1 0.015 4 0 0 0 0 Benign/Likely benign 12.58 47404 chr5 52240810 52240810 A G rs988574 ITGA1 Nonsynonymous SNV E1108G 0.045 0.039 0.02 11 53 15 0.028 6 3 0 0 0 23.2 47405 chr5 52351377 52351377 T C rs1139484 ITGA2 Synonymous SNV A263A 0.144 0.125 0.133 47 169 48 0.121 39 7 3 4 2 Benign 3.831 47406 chr5 1477557 1477557 G A rs76112807 LPCAT1 Synonymous SNV P287P 0.014 0.016 0.007 3 16 6 0.008 2 0 0 0 0 14.28 47407 chr5 52358757 52358757 G A rs1801106 ITGA2 Nonsynonymous SNV E534K 0.132 0.115 0.119 45 155 44 0.115 35 7 3 4 2 Benign 15.94 47408 chr5 37875419 37875419 G A rs79184697 GDNF-AS1 0.036 0.026 0.041 11 42 10 0.028 12 1 0 0 0 4.06 47409 chr5 134785500 134785500 C T rs768116532 TIFAB Nonsynonymous SNV A44T 0 0.005 0 0 0 2 0 0 0 0 0 0 4.331 47410 chr5 147778631 147778631 A G rs74863106 FBXO38 Synonymous SNV L66L 0.014 0.013 0.024 5 16 5 0.013 7 0 0 0 0 Benign 7.048 47411 chr5 52368472 52368472 C T rs3212583 ITGA2 Synonymous SNV D792D 0.138 0.122 0.112 45 162 47 0.115 33 8 3 4 2 Benign 16.35 47412 chr5 52369002 52369002 G A rs3212327 ITGA2 Synonymous SNV T828T 0.136 0.12 0.102 43 160 46 0.11 30 7 3 4 2 Benign 11.06 47413 chr5 52369086 52369086 G A rs3213805 ITGA2 Synonymous SNV L856L 0.133 0.12 0.109 42 156 46 0.108 32 7 3 4 1 Benign 2.217 47414 chr5 38486065 38486065 C T rs3110234 LIFR Nonsynonymous SNV V785I 0.141 0.146 0.167 56 165 56 0.144 49 5 2 6 7 Benign 19.09 47415 chr10 1081882 1081882 T C rs7075695 IDI2-AS1 0 0 0.211 0 0 0 0 62 0 0 10 0 0.944 47416 chr5 176893942 176893942 C T rs146597348 DBN1 Nonsynonymous SNV R226Q 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 Benign 29.5 47417 chr5 89703641 89703641 C G rs4873 CETN3 Nonsynonymous SNV V10L 0.25 0.255 0.065 86 294 98 0.221 19 45 13 4 8 18.24 47418 chr5 39134417 39134417 G A rs78841904 FYB1 Synonymous SNV D580D 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 5.979 47419 chr5 148596547 148596547 C T rs116226381 ABLIM3 Nonsynonymous SNV T232I 0.015 0.016 0.01 3 18 6 0.008 3 0 0 0 0 23.6 47420 chr5 40681254 40681254 C T rs2228058 PTGER4 Synonymous SNV T53T 0.06 0.039 0.034 30 70 15 0.077 10 4 0 0 0 12.65 47421 chr5 40843493 40843493 A T rs61748215 CARD6 Nonsynonymous SNV T175S 0.008 0.013 0.024 2 9 5 0.005 7 0 0 0 0 0.002 47422 chr5 176936590 176936590 T C rs2112181 DOK3 Synonymous SNV S40S 0.08 0.086 0.088 21 94 33 0.054 26 4 1 1 1 5.677 47423 chr5 176936819 176936819 C G rs3749728 DOK3 Nonsynonymous SNV R12P 0.08 0.086 0.065 21 94 33 0.054 19 4 1 0 1 7.573 47424 chr10 112724573 112724573 C T rs34081996 SHOC2 Synonymous SNV L153L 0.009 0.005 0.024 4 10 2 0.01 7 0 0 0 0 Benign 0.563 47425 chr5 93722050 93722050 G T rs29913 KIAA0825 Synonymous SNV I1172I 0.164 0.151 0.18 76 193 58 0.195 53 11 8 2 7 12.57 47426 chr10 1130477 1130477 C T rs145160560 WDR37 Synonymous SNV A177A 0.036 0.031 0.007 9 42 12 0.023 2 0 2 0 0 8.677 47427 chr5 40964852 40964852 A C rs13157656 C7 Nonsynonymous SNV T587P 0.278 0.229 0.218 95 326 88 0.244 64 49 9 5 12 2.804 47428 chr5 93753017 93753017 C T rs29910 KIAA0825 Nonsynonymous SNV A851T 0.341 0.352 0.354 135 400 135 0.346 104 59 23 19 25 22.4 47429 chr17 39925713 39925713 C T rs41283425 JUP Nonsynonymous SNV R142H 0.101 0.112 0.085 29 118 43 0.074 25 7 2 3 1 Benign/Likely benign 34 47430 chr5 177548196 177548196 G A rs115186199 N4BP3 Nonsynonymous SNV R317H 0.021 0.031 0.041 16 25 12 0.041 12 0 0 0 0 32 47431 chr10 115381896 115381896 A G rs112597942 NRAP Nonsynonymous SNV I798T 0.004 0.01 0.01 4 5 4 0.01 3 0 0 0 0 25.3 47432 chr5 177565255 177565255 C T rs61749659 RMND5B Synonymous SNV S45S 0.024 0.031 0.041 16 28 12 0.041 12 0 0 0 0 12.5 47433 chr5 177569969 177569969 C G rs61751560 RMND5B Synonymous SNV L121L 0.024 0.031 0.041 16 28 12 0.041 12 0 0 0 0 11.74 47434 chr5 33963870 33963870 C T rs26722 SLC45A2 Nonsynonymous SNV E272K 0.061 0.031 0.061 19 72 12 0.049 18 2 0 2 2 Benign/Likely benign 14.35 47435 chr5 177574561 177574561 T C rs61751561 RMND5B Synonymous SNV P283P 0.043 0.057 0.054 21 51 22 0.054 16 0 1 1 0 6.083 47436 chr5 149449827 149449827 C T rs34951517 CSF1R Nonsynonymous SNV G413S 0.013 0.016 0.014 9 15 6 0.023 4 0 0 0 0 Benign 20.9 47437 chr5 151771838 151771838 T C rs4958531 NMUR2 Nonsynonymous SNV M388V 0.181 0.169 0.16 69 212 65 0.177 47 26 4 4 4 0.001 47438 chr5 151771852 151771852 G A rs4958532 NMUR2 Nonsynonymous SNV P383L 0.181 0.169 0.16 69 212 65 0.177 47 26 4 4 4 16.53 47439 chr5 151772055 151772055 G T rs1895245 NMUR2 Nonsynonymous SNV F315L 0.181 0.169 0.16 69 212 65 0.177 47 26 4 4 4 9.487 47440 chr5 151775064 151775064 C G rs4958535 NMUR2 Nonsynonymous SNV S298T 0.181 0.169 0.16 69 212 65 0.177 47 26 4 4 4 9.796 47441 chr5 35084647 35084647 T C rs2228482 PRLR Nonsynonymous SNV I100V 0.041 0.039 0.054 20 48 15 0.051 16 0 0 1 0 0.004 47442 chr5 149919778 149919778 G A rs61732050 NDST1 Synonymous SNV A567A 0.106 0.102 0.085 39 125 39 0.1 25 4 0 1 2 14.34 47443 chr5 178540975 178540975 G A rs1054480 ADAMTS2 Nonsynonymous SNV P1177S 0.332 0.326 0.34 113 390 125 0.29 100 73 20 17 15 Benign 6.685 47444 chr5 178555097 178555097 C T rs35445112 ADAMTS2 Nonsynonymous SNV R827Q 0.055 0.086 0.037 26 64 33 0.067 11 2 1 0 1 Benign/Likely benign 21.9 47445 chr5 58726120 58726120 C T rs181294274 PDE4D Nonsynonymous SNV R42H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 19.29 47446 chr5 178578135 178578135 C T rs139658049 ADAMTS2 Nonsynonymous SNV A566T 0.01 0.008 0 11 12 3 0.028 0 0 0 0 1 0.148 47447 chr5 475338 475355 GGAAAGTTAGGGTCACCG - rs200907923 SLC9A3-AS1 0.224 0.24 0.119 104 263 92 0.267 35 36 8 5 18 47448 chr5 178581859 178581859 G A rs2278221 ADAMTS2 Synonymous SNV D398D 0.261 0.258 0.286 90 307 99 0.231 84 41 16 13 11 Benign 11.62 47449 chr5 179195867 179195867 G A rs41285557 MAML1 Nonsynonymous SNV S583N 0.034 0.042 0.034 20 40 16 0.051 10 0 1 0 2 9.158 47450 chr5 150647156 150647156 T C rs9324686 GM2A Synonymous SNV I172I 0.028 0.031 0.031 14 33 12 0.036 9 1 0 0 1 Benign 3.804 47451 chr5 96478218 96478218 C T rs377513606 LIX1 Synonymous SNV P21P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 13.48 47452 chr5 63991473 63991473 G C rs2305962 SHISAL2B Nonsynonymous SNV A111P 0.244 0.221 0.241 77 286 85 0.197 71 38 8 8 7 4.05 47453 chr5 36171780 36171780 A G rs61755301 SKP2 Synonymous SNV S68S 0.04 0.047 0.048 19 47 18 0.049 14 2 0 2 1 7.877 47454 chr17 80544018 80544018 C T rs11558342 FOXK2 Synonymous SNV A506A 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 Benign 13.46 47455 chr5 150723155 150723155 C A rs77010315 SLC36A2 Nonsynonymous SNV G87V 0.027 0.031 0.017 12 32 12 0.031 5 1 0 0 0 Conflicting interpretations of pathogenicity 29.9 47456 chr5 64892939 64892939 T G rs33945461 TRIM23 Synonymous SNV G416G 0.075 0.07 0.061 46 88 27 0.118 18 3 1 0 3 6.915 47457 chr5 64926104 64926104 A G rs6874425 SHLD3 Synonymous SNV R230R 0.066 0.065 0.061 43 78 25 0.11 18 2 0 0 3 0.262 47458 chr5 156589660 156589660 C T rs147753755 FAM71B Nonsynonymous SNV R539K 0.017 0.013 0.003 5 20 5 0.013 1 1 0 0 1 7.285 47459 chr5 39134957 39134957 A G rs760720606 FYB1 Nonsynonymous SNV Y569H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 47460 chr5 139422232 139422232 G A rs144634106 NRG2 Synonymous SNV A141A 0.087 0.099 0.058 27 102 38 0.069 17 4 3 3 0 11.85 47461 chr5 156671437 156671437 G T rs17595896 ITK Synonymous SNV V466V 0.021 0.026 0.01 7 25 10 0.018 3 1 0 0 1 Benign 11.18 47462 chr5 65350044 65350044 A G rs35278406 ERBIN Synonymous SNV Q966Q 0.032 0.026 0.027 9 37 10 0.023 8 0 0 0 1 0.078 47463 chr5 140011468 140011468 C G rs4914 CD14 Synonymous SNV L367L 0.123 0.125 0.112 53 144 48 0.136 33 10 2 4 0 7.391 47464 chr5 179734200 179734200 A G rs73343449 GFPT2 Synonymous SNV Y550Y 0.221 0.211 0.214 94 260 81 0.241 63 28 10 6 11 1.228 47465 chr6 105726036 105726036 C T rs1051484 PREP Nonsynonymous SNV V706I 0.231 0.208 0.194 67 271 80 0.172 57 30 5 5 7 19.53 47466 chr6 105776866 105776866 A C rs12192054 PREP Nonsynonymous SNV L351V 0.161 0.164 0.133 58 189 63 0.149 39 17 6 2 5 5.384 47467 chr5 140048707 140048707 A G rs35983033 WDR55 Nonsynonymous SNV Y235C 0.08 0.078 0.092 39 94 30 0.1 27 2 2 3 1 24.1 47468 chr5 150924962 150924962 G A rs142001888 FAT2 Nonsynonymous SNV T1909I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 12.98 47469 chr18 335099 335099 T C rs8098850 COLEC12 Nonsynonymous SNV I487V 0.083 0.083 0.071 22 97 32 0.056 21 4 1 0 1 0.001 47470 chr5 180166599 180166599 C T rs11954074 OR2Y1 Nonsynonymous SNV V154M 0.009 0.018 0.024 4 11 7 0.01 7 0 0 0 0 1.151 47471 chr6 106547372 106547372 C G rs811925 PRDM1 Nonsynonymous SNV D69E 0.173 0.169 0.177 52 203 65 0.133 52 20 7 3 7 not provided 9.973 47472 chr5 180166677 180166677 G A rs11960429 OR2Y1 Nonsynonymous SNV R128C 0.009 0.013 0.024 4 11 5 0.01 7 0 0 0 0 24.4 47473 chr6 106727570 106727570 T C rs34601838 ATG5 Synonymous SNV K70K 0.027 0.034 0.034 16 32 13 0.041 10 0 0 1 0 3.117 47474 chr6 106808839 106808839 C G rs111350805 CRYBG1 Nonsynonymous SNV P19R 0.039 0.039 0.048 19 46 15 0.049 14 1 0 1 0 11.26 47475 chr6 106808944 106808944 C T rs78956787 CRYBG1 Nonsynonymous SNV A54V 0.037 0.031 0.048 17 43 12 0.044 14 1 0 1 0 10.53 47476 chr6 106959348 106959348 T G rs564032091 CRYBG1 Nonsynonymous SNV L119W 0.006 0.01 0.003 6 7 4 0.015 1 0 0 0 0 23.3 47477 chr10 121662335 121662335 G T rs34157476 SEC23IP Nonsynonymous SNV A241S 0.045 0.039 0.051 11 53 15 0.028 15 1 0 0 0 0.001 47478 chr10 12172775 12172775 G A rs7070684 MIR548AK 0 0 0.507 0 0 0 0 149 0 0 33 0 8.525 47479 chr6 106967778 106967778 T C rs3747787 CRYBG1 Nonsynonymous SNV C491R 0.227 0.258 0.228 80 266 99 0.205 67 27 10 7 8 0.148 47480 chr5 180432564 180432564 G T rs73815153 BTNL3 Nonsynonymous SNV G365W 0.078 0.07 0.068 30 92 27 0.077 20 4 1 0 3 0.247 47481 chr10 122666300 122666300 T G rs139007744 WDR11 Nonsynonymous SNV F1150L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.82 47482 chr5 180432662 180432662 C G rs7726604 BTNL3 Nonsynonymous SNV S397R 0.078 0.07 0.071 30 92 27 0.077 21 4 1 0 3 5.635 47483 chr5 180432666 180432666 C G rs7726607 BTNL3 Nonsynonymous SNV P399A 0.078 0.07 0.071 30 92 27 0.077 21 4 1 0 3 0.001 47484 chr6 107100396 107100396 A G rs34221917 QRSL1 Nonsynonymous SNV N263S 0.083 0.078 0.048 32 98 30 0.082 14 5 1 0 0 0.006 47485 chr5 180432747 180432747 C G rs59220426 BTNL3 Nonsynonymous SNV Q426E 0.078 0.07 0.071 30 92 27 0.077 21 4 1 0 3 0.002 47486 chr5 152871804 152871804 G A rs3811982 GRIA1 Nonsynonymous SNV G16S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.001 47487 chr5 5461553 5461553 C T rs150379834 ICE1 Synonymous SNV S702S 0.01 0.021 0.007 4 12 8 0.01 2 0 0 0 0 Benign 7.661 47488 chr5 162868910 162868910 T G rs11541970 CCNG1 Nonsynonymous SNV F45L 0.048 0.055 0.044 19 56 21 0.049 13 2 1 0 1 12.25 47489 chr5 5461696 5461696 G C rs200171752 ICE1 Nonsynonymous SNV G750A 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 10.75 47490 chr5 180485353 180485353 G A rs3806869 BTNL9 Synonymous SNV E319E 0.043 0.052 0.058 10 50 20 0.026 17 1 1 0 1 12.98 47491 chr5 162896650 162896650 C T rs299284 HMMR Nonsynonymous SNV R6C 0.147 0.138 0.167 49 172 53 0.126 49 15 4 2 1 34 47492 chr5 140795212 140795212 A T rs200555070 PCDHGA10 Stop gain K824X 0.005 0.01 0.007 3 6 4 0.008 2 0 0 0 0 0.281 47493 chr5 5464533 5464533 C A rs201780270 ICE1 Nonsynonymous SNV P1696T 0.009 0.021 0.007 4 11 8 0.01 2 0 0 0 0 Likely benign 0.518 47494 chr6 108882830 108882830 C T rs111556510 FOXO3 Nonsynonymous SNV A140V 0.089 0.094 0.034 26 104 36 0.067 10 5 0 1 0 Benign 19.62 47495 chr5 153783753 153783753 C T rs6580076 GALNT10 Synonymous SNV A382A 0.187 0.174 0.18 79 219 67 0.203 53 20 5 6 8 17.85 47496 chr5 54645411 54645411 G A rs2061242 MTREX Synonymous SNV K417K 0.118 0.12 0.122 39 138 46 0.1 36 10 3 3 4 12.54 47497 chr5 1409193 1409193 C T rs750649054 SLC6A3 Synonymous SNV T482T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.14 47498 chr5 154214232 154214232 C T rs62382170 FAXDC2 Nonsynonymous SNV R66K 0.014 0.016 0.034 11 16 6 0.028 10 0 0 0 0 5.658 47499 chr6 109282823 109282823 C T rs150814535 ARMC2 Nonsynonymous SNV A490V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 29 47500 chr6 109315686 109315686 T A rs371879536 SESN1 Nonsynonymous SNV S308C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 17.36 47501 chr17 44952531 44952531 G T rs34072914 WNT9B Synonymous SNV R133R 0.033 0.076 0.044 25 39 29 0.064 13 0 1 0 2 6.636 47502 chr18 6824937 6824937 C T rs138818443 ARHGAP28 Nonsynonymous SNV P100L 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 7.389 47503 chr10 123988893 123988893 C T rs61753076 TACC2 Synonymous SNV D721D 0.011 0.008 0.014 8 13 3 0.021 4 0 0 0 1 15.56 47504 chr6 109589031 109589031 T C rs4142466 CCDC162P 0.029 0.021 0.041 10 34 8 0.026 12 0 0 0 0 10.14 47505 chr5 55248135 55248135 C T rs34417936 IL6ST Nonsynonymous SNV V167I 0.039 0.06 0.027 12 46 23 0.031 8 0 1 0 0 22.2 47506 chr5 167674472 167674472 G A rs17070023 TENM2 Synonymous SNV T1937T 0.081 0.057 0.078 23 95 22 0.059 23 3 0 1 3 10.6 47507 chr5 167674988 167674988 C T rs73391717 TENM2 Synonymous SNV Y2109Y 0.019 0.018 0.017 4 22 7 0.01 5 0 0 0 0 8.235 47508 chr5 156464261 156464261 T C rs370221161 HAVCR1 Nonsynonymous SNV K317E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.13 47509 chr5 31297424 31297424 G A rs143211210 CDH6 Synonymous SNV T184T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.924 47510 chr5 167850877 167850877 C T rs139884736 WWC1 Synonymous SNV S538S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.56 47511 chr5 141335594 141335594 A G rs61737137 PCDH12 Nonsynonymous SNV L608P 0.02 0.034 0.037 10 24 13 0.026 11 0 0 0 0 0.778 47512 chr10 124436375 124436375 G A rs72836153 LOC112577516 Synonymous SNV G60G 0 0 0.078 0 0 0 0 23 0 0 0 0 1.306 47513 chr6 110007240 110007240 C T rs6917383 AK9 Synonymous SNV L4L 0.03 0.021 0 10 35 8 0.026 0 1 0 0 1 2.814 47514 chr5 167956719 167956719 C A rs111777993 FBLL1 Nonsynonymous SNV D70E 0.036 0.034 0.003 17 42 13 0.044 1 8 2 0 2 12.91 47515 chr17 46620973 46620973 G C rs776013064 HOXB2 Nonsynonymous SNV I176M 0 0 0 3 0 0 0.008 0 0 0 0 0 26.5 47516 chr5 142780337 142780337 C T rs6190 NR3C1 Nonsynonymous SNV R23K 0.032 0.029 0.027 10 38 11 0.026 8 0 0 1 0 Likely benign 11.69 47517 chr5 142780339 142780339 C T rs6189 NR3C1 Synonymous SNV E22E 0.032 0.029 0.027 10 38 11 0.026 8 0 0 1 0 Benign/Likely benign 6.385 47518 chr5 32074392 32074392 G A rs2291114 PDZD2 Synonymous SNV T1060T 0.223 0.24 0.163 93 262 92 0.238 48 31 13 5 12 9.239 47519 chr6 111543412 111543412 A C rs17072442 SLC16A10 Nonsynonymous SNV K508Q 0.011 0.016 0.01 13 13 6 0.033 3 0 0 0 0 23.6 47520 chr5 14316642 14316642 G A rs55920001 TRIO Synonymous SNV S507S 0.016 0.016 0.044 9 19 6 0.023 13 0 0 0 0 12.82 47521 chr5 14330940 14330940 T C rs2277045 TRIO Synonymous SNV G595G 0.016 0.016 0.044 9 19 6 0.023 13 0 0 0 0 5.389 47522 chr5 56777677 56777677 G A rs16886992 ACTBL2 Synonymous SNV C286C 0.068 0.055 0.058 38 80 21 0.097 17 3 1 0 2 10.42 47523 chr6 111588188 111588188 C T rs17072508 MFSD4B Synonymous SNV L475L 0.013 0.016 0.01 14 15 6 0.036 3 0 0 0 0 9.831 47524 chr5 14389469 14389469 C T rs7715916 TRIO Synonymous SNV I1340I 0.03 0.044 0.031 10 35 17 0.026 9 0 0 0 0 14.3 47525 chr5 54948481 54948481 T C rs918578412 SLC38A9 Synonymous SNV T213T 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 0.032 47526 chr5 33576602 33576602 A G rs3813474 ADAMTS12 Nonsynonymous SNV W1092R 0.114 0.096 0.112 48 134 37 0.123 33 6 2 2 2 2.373 47527 chr5 61847073 61847073 G C rs32170 IPO11 Synonymous SNV T830T 0.037 0.039 0.061 12 43 15 0.031 18 1 0 1 0 9.67 47528 chr5 33643532 33643532 C T rs759738672 ADAMTS12 Nonsynonymous SNV R508H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.4 47529 chr5 158743808 158743808 G A rs367828574 IL12B Nonsynonymous SNV T291M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.625 47530 chr18 9583156 9583156 A G PPP4R1 Nonsynonymous SNV S293P 0 0 0 0 0 0 0 0 0 0 0 0 32 47531 chr5 73992881 73992881 A G rs10805890 HEXB Nonsynonymous SNV I207V 0.13 0.122 0.129 68 153 47 0.174 38 7 2 1 4 Benign 16.64 47532 chr5 74017590 74017590 G C rs35080306 GFM2 Nonsynonymous SNV R697G 0.031 0.026 0.027 11 36 10 0.028 8 0 0 1 0 Benign 34 47533 chr10 12695177 12695177 A G rs7896283 MIR4481 0 0 0.31 0 0 0 0 91 0 0 13 0 0.852 47534 chr5 55479444 55479444 C G ANKRD55 Nonsynonymous SNV V26L 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 17.79 47535 chr5 74077474 74077474 C T rs16872269 FAM169A Synonymous SNV K608K 0.034 0.031 0.031 10 40 12 0.026 9 0 0 1 0 12.5 47536 chr5 65004328 65004328 A G rs148051517 SGTB Synonymous SNV L88L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.689 47537 chr6 11538564 11538564 C T rs76140838 TMEM170B Synonymous SNV V18V 0.027 0.023 0.027 10 32 9 0.026 8 1 0 0 0 16.24 47538 chr17 48263738 48263738 G A rs766059440 COL1A1 Synonymous SNV S1315S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.15 47539 chr10 128147954 128147954 T C rs76537259 LOC728158 0 0 0.051 0 0 0 0 15 0 0 1 0 2.438 47540 chr10 128148056 128148056 T C rs7098669 LOC728158 0 0 0.374 0 0 0 0 110 0 0 18 0 0.133 47541 chr5 147889348 147889348 A G rs55727780 HTR4 Synonymous SNV H249H 0.032 0.039 0.034 11 37 15 0.028 10 0 1 0 0 0.004 47542 chr5 172110833 172110833 C T rs142447086 NEURL1B Nonsynonymous SNV P148L 0.046 0.039 0.037 22 54 15 0.056 11 3 0 0 0 20.5 47543 chr10 128974587 128974587 C A rs76646118 INSYN2A Nonsynonymous SNV A25S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 47544 chr5 57751443 57751443 A G rs1042994 PLK2 Synonymous SNV F516F 0.065 0.047 0.078 21 76 18 0.054 23 1 0 1 1 2.335 47545 chr5 57753116 57753116 C T rs17710502 PLK2 Synonymous SNV P300P 0.065 0.047 0.078 21 76 18 0.054 23 1 0 1 1 17.5 47546 chr5 57753149 57753149 A G rs17767072 PLK2 Synonymous SNV Y289Y 0.065 0.047 0.078 21 76 18 0.054 23 1 0 1 1 1.55 47547 chr10 129869113 129869113 G A rs772381129 PTPRE Synonymous SNV T225T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 47548 chr17 48598741 48598741 A G rs143473433 MYCBPAP Nonsynonymous SNV Y381C 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.057 47549 chr6 116943975 116943975 G A rs41289942 RSPH4A Nonsynonymous SNV R244H 0.041 0.052 0.017 25 48 20 0.064 5 2 0 0 0 Benign/Likely benign 25.6 47550 chr5 63256995 63256995 G A rs34118353 HTR1A Synonymous SNV P184P 0.028 0.023 0.031 11 33 9 0.028 9 0 0 0 0 11.09 47551 chr5 149212298 149212298 C A rs139476696 PPARGC1B Nonsynonymous SNV T182N 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 23.7 47552 chr5 64036905 64036905 A G rs61997180 SREK1IP1 Synonymous SNV L62L 0.03 0.021 0.01 5 35 8 0.013 3 1 0 0 0 9.879 47553 chr5 149212927 149212935 GAGGAAGAC - rs757491083 PPARGC1B D394_E396del 0 0.003 0 0 0 1 0 0 0 0 0 0 47554 chr5 70800475 70800475 C T rs3761966 BDP1 Nonsynonymous SNV R757C 0.36 0.357 0.364 142 423 137 0.364 107 84 26 22 25 Benign 10.09 47555 chr17 48618360 48618360 C T rs78111408 EPN3 Nonsynonymous SNV H396Y 0.044 0.029 0.027 9 52 11 0.023 8 3 1 0 0 14.4 47556 chr5 75996909 75996909 G A rs34592828 IQGAP2 Nonsynonymous SNV R955Q 0.025 0.018 0.024 8 29 7 0.021 7 3 0 1 0 26.5 47557 chr5 65350250 65350250 A G rs137933401 ERBIN Nonsynonymous SNV N1035S 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 22.6 47558 chr6 117243260 117243260 T C rs7764347 RFX6 Synonymous SNV T461T 0.189 0.185 0.201 78 222 71 0.2 59 19 5 7 7 Likely benign 2.561 47559 chr6 117244374 117244374 T C rs7770158 RFX6 Synonymous SNV N514N 0.189 0.188 0.201 78 222 72 0.2 59 18 5 7 7 Likely benign 4.853 47560 chr5 65350481 65350481 C T rs3805466 ERBIN Nonsynonymous SNV S1112L 0.046 0.047 0.027 7 54 18 0.018 8 2 1 0 0 24.5 47561 chr6 117246719 117246719 C T rs4946206 RFX6 Synonymous SNV H594H 0.189 0.188 0.201 78 222 72 0.2 59 18 5 7 7 Likely benign 11.19 47562 chr5 36052004 36052004 A T rs138403099 UGT3A2 Nonsynonymous SNV F59L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.001 47563 chr6 117248218 117248218 T C rs611349 RFX6 Synonymous SNV G638G 0.189 0.188 0.201 78 222 72 0.2 59 18 5 7 7 Likely benign 0.055 47564 chr5 70858194 70858194 C T rs277941 BDP1 Synonymous SNV R2530R 0.358 0.352 0.327 142 420 135 0.364 96 84 26 22 25 Benign 8.241 47565 chr17 48628160 48628160 A G rs62621401 SPATA20 Nonsynonymous SNV K406R 0.051 0.034 0.041 12 60 13 0.031 12 3 1 0 0 10.41 47566 chr5 66461363 66461363 C T rs55882716 MAST4 Nonsynonymous SNV P1858L 0.066 0.044 0.044 25 78 17 0.064 13 1 3 0 1 17.59 47567 chr5 71609959 71609959 A G rs41271119 MRPS27 Nonsynonymous SNV Y34H 0.01 0.021 0.01 4 12 8 0.01 3 0 0 0 0 26 47568 chr5 6663022 6663022 C T rs371216913 SRD5A1 Nonsynonymous SNV A172V 0.003 0 0 0 3 0 0 0 0 0 0 0 4.431 47569 chr6 119245024 119245024 C T rs12197931 MCM9 Synonymous SNV S191S 0.08 0.063 0.068 25 94 24 0.064 20 3 2 2 0 18.35 47570 chr18 20573556 20573556 G A rs111445733 RBBP8 Nonsynonymous SNV R589H 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign 4.628 47571 chr5 37299565 37299565 C A NUP155 Nonsynonymous SNV D1159Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 47572 chr17 51900780 51900780 A G rs117796484 KIF2B Nonsynonymous SNV D129G 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 14.67 47573 chr5 78181577 78181577 T C rs72762973 ARSB Synonymous SNV G324G 0.057 0.044 0.041 13 67 17 0.033 12 4 2 0 0 Benign 3.222 47574 chr6 12124587 12124587 C G rs2228212 HIVEP1 Nonsynonymous SNV A1520G 0.359 0.323 0.33 125 422 124 0.321 97 79 21 11 19 Benign 0.054 47575 chr5 37727077 37727077 C A WDR70 Synonymous SNV R581R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 47576 chr5 68616079 68616079 G A rs10471773 CCDC125 Stop gain R97X 0.037 0.042 0.034 18 43 16 0.046 10 0 0 0 1 35 47577 chr10 133107496 133107496 C T rs61732111 TCERG1L Nonsynonymous SNV V137I 0.035 0.026 0.051 4 41 10 0.01 15 0 0 1 0 0.052 47578 chr10 133607937 133607937 G A rs4897782 LINC01164 0 0 0.398 0 0 0 0 117 0 0 34 0 12.5 47579 chr5 150413202 150413202 C T rs62382331 TNIP1 Synonymous SNV P529P 0.005 0.008 0.027 2 6 3 0.005 8 0 0 0 0 Benign 16.53 47580 chr6 12296255 12296255 G T rs5370 EDN1 Nonsynonymous SNV K197N 0.224 0.247 0.248 87 263 95 0.223 73 30 14 14 11 Benign 7.712 47581 chr18 21140367 21140367 G A rs80358251 NPC1 Nonsynonymous SNV P237S 0.007 0.016 0.003 0 8 6 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 11.86 47582 chr10 133608237 133608237 G A rs4897783 LINC01164 0 0 0.459 0 0 0 0 135 0 0 35 0 16.67 47583 chr5 73144890 73144890 A T rs202147794 ARHGEF28 Nonsynonymous SNV L262F 0.007 0.01 0 0 8 4 0 0 0 0 0 0 0.002 47584 chr10 133608291 133608291 T G rs4897742 LINC01164 0 0 0.459 0 0 0 0 135 0 0 36 0 0.003 47585 chr10 133608292 133608292 T G rs4897743 LINC01164 0 0 0.459 0 0 0 0 135 0 0 36 0 0.003 47586 chr5 150603444 150603444 C G rs248461 LOC105378230 0.15 0.154 0.177 60 176 59 0.154 52 29 11 8 8 8.575 47587 chr17 53851237 53851237 C T rs34608946 PCTP Synonymous SNV D92D 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 17.4 47588 chr5 41042204 41042204 T A rs16870720 MROH2B Nonsynonymous SNV D648V 0.016 0.018 0.014 8 19 7 0.021 4 0 0 1 1 23.7 47589 chr5 7867327 7867327 G A rs76873746 FASTKD3 Synonymous SNV N290N 0.047 0.057 0.024 9 55 22 0.023 7 1 0 0 0 0.686 47590 chr5 70858342 70858342 A G rs115185087 BDP1 Nonsynonymous SNV T2580A 0.068 0.07 0.058 23 80 27 0.059 17 4 2 0 1 Benign 0.002 47591 chr5 79282798 79282798 G C rs9293796 MTX3 Nonsynonymous SNV S177R 0.152 0.107 0.078 36 179 41 0.092 23 17 3 1 1 13.56 47592 chr18 22029819 22029819 C G rs147492242 IMPACT Nonsynonymous SNV R266G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 47593 chr5 74077767 74077767 C T rs76455982 FAM169A Nonsynonymous SNV E511K 0.009 0.016 0.007 0 10 6 0 2 0 0 0 0 26 47594 chr5 79361265 79361265 G C rs1866389 THBS4 Nonsynonymous SNV A296P 0.217 0.174 0.18 51 255 67 0.131 53 29 5 3 1 24.9 47595 chr10 134161641 134161641 A G rs780030454 LRRC27 Nonsynonymous SNV E109G 0 0 0.007 0 0 0 0 2 0 0 0 0 20.7 47596 chr5 74652199 74652199 A G rs5908 HMGCR Nonsynonymous SNV I585V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 6.039 47597 chr5 72192358 72192358 A G rs61749606 TNPO1 Synonymous SNV A689A 0.01 0.013 0 3 12 5 0.008 0 0 0 0 0 11.19 47598 chr18 25593713 25593713 G C rs41274322 CDH2 Synonymous SNV T80T 0.054 0.052 0.058 21 63 20 0.054 17 2 0 2 0 5.676 47599 chr5 75906851 75906851 T C rs7722711 IQGAP2 Nonsynonymous SNV V8A 0.049 0.065 0.068 23 58 25 0.059 20 1 0 0 1 10.92 47600 chr5 176316461 176316461 C T rs143604141 HK3 Nonsynonymous SNV D279N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.8 47601 chr5 178507004 178507004 A G rs149489106 ZNF354C Nonsynonymous SNV Y524C 0.02 0.01 0.034 8 24 4 0.021 10 1 0 0 0 15.22 47602 chr5 43161351 43161351 G A rs71627581 ZNF131 Synonymous SNV R124R 0.068 0.06 0.048 22 80 23 0.056 14 2 1 2 0 10.69 47603 chr5 176396684 176396684 G A rs72813116 UIMC1 Synonymous SNV S127S 0.018 0.013 0.01 5 21 5 0.013 3 0 0 0 0 10.04 47604 chr5 79950724 79950724 G C rs2001675 MSH3 Nonsynonymous SNV A60P 0.015 0.021 0.003 6 18 8 0.015 1 0 0 0 1 Benign 10.61 47605 chr5 179160402 179160402 G C rs61751563 MAML1 Nonsynonymous SNV G97R 0.072 0.076 0.048 36 84 29 0.092 14 12 0 0 4 Benign 17.44 47606 chr5 453583 453583 C T rs6871053 EXOC3 Synonymous SNV L155L 0.051 0.034 0.041 18 60 13 0.046 12 1 1 0 0 13.09 47607 chr5 73985215 73985215 A G rs11556045 HEXB Nonsynonymous SNV K121R 0.175 0.169 0.143 62 206 65 0.159 42 12 5 5 4 Benign 0.001 47608 chr5 482738 482738 A G rs3777231 SLC9A3 Synonymous SNV D427D 0.056 0.042 0.034 18 66 16 0.046 10 1 1 0 0 0.004 47609 chr5 77311370 77311370 C T rs146503597 AP3B1 Nonsynonymous SNV V950M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.41 47610 chr6 132781909 132781909 T G rs150661329 STX7 Synonymous SNV G258G 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 0.194 47611 chr5 82815447 82815447 C T VCAN Nonsynonymous SNV P441L 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 23.7 47612 chr5 74400324 74400324 C T rs62622770 ANKRD31 Nonsynonymous SNV G1630E 0.052 0.06 0.061 19 61 23 0.049 18 2 0 0 0 4.699 47613 chr18 29793380 29793380 G A rs143349103 MEP1B Synonymous SNV L479L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.29 47614 chr17 56664961 56664961 C T rs377621577 TEX14 Synonymous SNV K929K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.07 47615 chr5 77784845 77784845 C T rs146852158 LHFPL2 Nonsynonymous SNV A188T 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 29.1 47616 chr5 82834009 82834009 G A rs35648048 VCAN Synonymous SNV E742E 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 Benign/Likely benign 5.236 47617 chr6 133072576 133072576 T C rs775874023 VNN2 Nonsynonymous SNV E303G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.32 47618 chr5 74526441 74526441 C T rs971055487 ANKRD31 Nonsynonymous SNV A42T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.326 47619 chr6 13321097 13321097 G A rs2496132 TBC1D7 Nonsynonymous SNV R115C 0.22 0.206 0.238 87 258 79 0.223 70 26 2 11 12 3.402 47620 chr5 154299581 154299581 A G rs61758976 GEMIN5 Synonymous SNV L514L 0.014 0.01 0.003 13 17 4 0.033 1 0 0 0 0 10.86 47621 chr5 74930795 74930795 A T rs1049702880 ANKDD1B Nonsynonymous SNV N225Y 0.002 0 0 0 2 0 0 0 0 0 0 0 3.178 47622 chr10 135269955 135269955 C T rs11101759 SCART1 0 0 0.153 0 0 0 0 45 0 0 3 0 6.917 47623 chr10 135270838 135270838 C - rs144029024 SCART1 0 0 0.099 0 0 0 0 29 0 0 2 0 47624 chr18 30926284 30926284 G A rs35283321 CCDC178 Synonymous SNV D183D 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 7.341 47625 chr10 135273085 135273085 C T rs117139762 SCART1 0 0 0.02 0 0 0 0 6 0 0 0 0 3.831 47626 chr6 133849868 133849868 C T rs142721902 EYA4 Synonymous SNV N561N 0.014 0.013 0.027 7 17 5 0.018 8 0 0 0 0 Benign/Likely benign 7.285 47627 chr5 154346325 154346325 G A rs7965 MRPL22 Synonymous SNV K83K 0.123 0.138 0.095 59 144 53 0.151 28 8 2 2 2 11.32 47628 chr10 135278203 135278203 A G rs150611227 SCART1 0 0 0.02 0 0 0 0 6 0 0 0 0 4.895 47629 chr10 135278245 135278251 TGGGGTG - rs111769579 SCART1 0 0 0.095 0 0 0 0 28 0 0 3 0 47630 chr18 31326012 31326012 T G rs144534810 ASXL3 Nonsynonymous SNV L2067R 0.013 0.013 0.017 3 15 5 0.008 5 0 0 0 0 Benign/Likely benign 23.1 47631 chr6 136589425 136589425 G T rs77081633 BCLAF1 Nonsynonymous SNV P756T 0.101 0.094 0.075 35 119 36 0.09 22 0 0 0 0 Benign 23.9 47632 chr10 135281637 135281637 A C rs10776682 SCART1 0 0 0.238 0 0 0 0 70 0 0 8 0 0.893 47633 chr5 75923301 75923301 G A rs368255249 IQGAP2 Nonsynonymous SNV V83M 0.003 0 0 0 3 0 0 0 0 0 0 0 1.29 47634 chr6 136687065 136687065 C T rs35350783 MAP7 Nonsynonymous SNV V267I 0.048 0.063 0.054 15 56 24 0.038 16 2 1 0 1 14.26 47635 chr5 180420151 180420151 C T rs148701737 BTNL3 Nonsynonymous SNV R130W 0.01 0.01 0 5 12 4 0.013 0 3 0 0 1 Benign 23.5 47636 chr10 14425204 14425204 T A rs12780876 MIR4293 0 0 0.299 0 0 0 0 88 0 0 14 0 5.038 47637 chr10 15115112 15115112 G A rs747622040 OLAH Nonsynonymous SNV A228T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 47638 chr17 60742307 60742307 C T rs113859572 MRC2 Nonsynonymous SNV H173Y 0.002 0.005 0.007 3 2 2 0.008 2 0 0 0 0 3.381 47639 chr18 33709977 33709977 G C rs8084554 ELP2 Synonymous SNV G27G 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 10.52 47640 chr5 180622354 180622354 G A rs61751566 TRIM7 Nonsynonymous SNV R268W 0.005 0.005 0.02 7 6 2 0.018 6 0 0 0 0 23.4 47641 chr6 13801615 13801615 T C rs3180196 MCUR1 Nonsynonymous SNV T216A 0.14 0.112 0.075 47 164 43 0.121 22 13 4 3 3 15.66 47642 chr5 79286419 79286419 C T rs61998228 MTX3 Nonsynonymous SNV R50K 0.034 0.057 0.044 17 40 22 0.044 13 0 0 0 1 18.89 47643 chr18 33726295 33726295 A G rs16967474 ELP2 Nonsynonymous SNV H289R 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 25.3 47644 chr5 180669275 180669275 C T rs59085681 RACK1 Synonymous SNV R60R 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 Benign 8.665 47645 chr6 139202137 139202137 T C rs138935097 ECT2L Nonsynonymous SNV V570A 0.011 0.013 0.003 5 13 5 0.013 1 0 0 0 0 not provided 3.975 47646 chr5 79616573 79616573 C A rs184214819 SPZ1 Nonsynonymous SNV A180D 0.014 0.023 0.01 6 17 9 0.015 3 0 0 0 0 1.031 47647 chr6 139206937 139206937 A G rs17067993 ECT2L Synonymous SNV Q743Q 0.027 0.034 0.027 14 32 13 0.036 8 0 0 0 0 0.014 47648 chr5 77477403 77477403 C T rs566729844 AP3B1 Synonymous SNV P241P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.8 47649 chr5 7766864 7766864 C T rs139446665 ADCY2 Nonsynonymous SNV S720L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.92 47650 chr6 139488160 139488160 C T rs34476011 HECA Synonymous SNV F337F 0.031 0.047 0.027 8 36 18 0.021 8 0 2 0 1 7.41 47651 chr6 142397030 142397030 G A rs142626832 NMBR Nonsynonymous SNV R162W 0.012 0.01 0.003 3 14 4 0.008 1 0 0 0 0 Likely benign 32 47652 chr6 142399873 142399873 G A rs140322909 NMBR Nonsynonymous SNV A49V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.5 47653 chr5 9063141 9063141 C T rs77204181 SEMA5A Synonymous SNV S792S 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 Benign 16.86 47654 chr5 205565 205565 G A rs10060089 CCDC127 Synonymous SNV T210T 0.1 0.112 0.136 46 117 43 0.118 40 4 2 3 2 3.489 47655 chr5 26881537 26881537 A G CDH9 Nonsynonymous SNV M693T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.09 47656 chr6 143755086 143755086 A G rs41289843 ADAT2 Synonymous SNV D31D 0.011 0.01 0.007 5 13 4 0.013 2 0 0 0 0 8.857 47657 chr18 42643458 42643458 C T SETBP1 Nonsynonymous SNV P1529L 0 0 0 0 0 0 0 0 0 0 0 0 21.1 47658 chr5 95115959 95115959 C T rs41276257 RHOBTB3 Nonsynonymous SNV T429M 0.155 0.135 0.126 67 182 52 0.172 37 21 9 1 8 17.66 47659 chr17 62290699 62290699 G A rs115209976 TEX2 Synonymous SNV R293R 0.022 0.029 0.037 5 26 11 0.013 11 0 0 0 0 6.396 47660 chr6 144081768 144081768 C A rs2073215 PHACTR2 Synonymous SNV R229R 0.111 0.112 0.102 48 130 43 0.123 30 8 2 1 2 18.68 47661 chr5 80600619 80600619 C G rs16878594 ZCCHC9 Nonsynonymous SNV P15A 0.122 0.122 0.105 46 143 47 0.118 31 5 0 1 2 3.113 47662 chr6 145956316 145956319 AGAC - rs200066315 EPM2A Y263Ifs*2 0.029 0.034 0.024 10 34 13 0.026 7 0 0 0 0 47663 chr6 146127029 146127029 T C rs6914746 FBXO30 Synonymous SNV L171L 0.03 0.036 0.037 12 35 14 0.031 11 0 0 0 0 0.061 47664 chr5 31552895 31552895 T A rs16901277 C5orf22 Nonsynonymous SNV D405E 0.049 0.057 0.024 22 57 22 0.056 7 1 0 0 2 15.94 47665 chr5 82491674 82491674 T C rs28360135 XRCC4 Nonsynonymous SNV I134T 0.049 0.055 0.027 25 57 21 0.064 8 3 0 0 0 21.3 47666 chr6 147636753 147636753 A G rs148830578 STXBP5 Nonsynonymous SNV Y502C 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Benign 13.5 47667 chr5 168139380 168139380 C G LOC101927969 0 0.003 0 0 0 1 0 0 0 0 0 0 4.881 47668 chr17 65907503 65907503 A G rs112921129 BPTF Nonsynonymous SNV D1168G 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 0.004 47669 chr18 44140280 44140282 TCT - rs142960762 LOXHD1 K942del 0.032 0.042 0.034 20 37 16 0.051 10 0 0 0 0 47670 chr5 89769999 89769999 G A rs2115501 MBLAC2 Synonymous SNV G37G 0.072 0.104 0.105 32 84 40 0.082 31 4 1 1 2 10.13 47671 chr6 149068627 149068627 A T rs9498146 UST Nonsynonymous SNV M21L 0.035 0.034 0.014 15 41 13 0.038 4 2 0 0 0 0.153 47672 chr5 89791509 89791509 G A rs762093499 POLR3G Nonsynonymous SNV S88N 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 24.3 47673 chr5 79048562 79048562 C T rs1366272 CMYA5 Synonymous SNV F3685F 0.079 0.068 0.075 34 93 26 0.087 22 3 0 0 2 17.48 47674 chr5 96219561 96219561 C T rs3733905 ERAP2 Nonsynonymous SNV P214L 0.012 0.01 0.017 7 14 4 0.018 5 0 0 0 0 32 47675 chr6 149700491 149700491 G A rs3734296 TAB2 Synonymous SNV V480V 0.131 0.135 0.102 45 154 52 0.115 30 13 2 3 3 0.173 47676 chr6 149730846 149730846 G A rs652921 TAB2 Synonymous SNV R691R 0.13 0.135 0.102 45 153 52 0.115 30 13 2 3 3 7.128 47677 chr18 47318626 47318626 T C rs11549285 ACAA2 Nonsynonymous SNV M217V 0.015 0.023 0.01 3 18 9 0.008 3 0 0 0 0 0.018 47678 chr5 90012379 90012379 G A rs13157270 ADGRV1 Nonsynonymous SNV V3094I 0.083 0.07 0.092 32 97 27 0.082 27 6 0 1 1 Benign 2.888 47679 chr17 66596463 66596463 C T rs986099 FAM20A Synonymous SNV S115S 0.137 0.122 0.119 47 161 47 0.121 35 8 2 4 1 Benign 22 47680 chr6 149772190 149772190 G A rs112722576 ZC3H12D Nonsynonymous SNV P405S 0.158 0.141 0.133 60 186 54 0.154 39 25 8 6 6 0.217 47681 chr5 191992 191992 G A rs34710524 LRRC14B Synonymous SNV T113T 0.038 0.036 0.058 22 45 14 0.056 17 1 0 0 0 1.824 47682 chr5 9629529 9629529 G A rs2234233 TAS2R1 Nonsynonymous SNV R206W 0.193 0.177 0.143 60 226 68 0.154 42 22 6 4 4 7.085 47683 chr6 150211953 150211953 C A rs199529072 RAET1E Nonsynonymous SNV G29C 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 21.2 47684 chr5 67586574 67586574 G T rs144312303 PIK3R1 Nonsynonymous SNV W6C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.19 47685 chr5 79817898 79817898 A G rs2431224 FAM151B Synonymous SNV R204R 0.069 0.049 0.068 26 81 19 0.067 20 3 0 1 4 5.537 47686 chr18 47803354 47803354 C T rs140686 MBD1 Synonymous SNV A80A 0.077 0.115 0.133 32 90 44 0.082 39 5 1 2 0 11.07 47687 chr6 151161825 151161825 C T rs803400 PLEKHG1 Synonymous SNV S1278S 0.023 0.031 0.017 13 27 12 0.033 5 0 0 0 0 9.162 47688 chr5 32058127 32058127 C T rs34236643 PDZD2 Synonymous SNV S706S 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 8.501 47689 chr5 68568858 68568858 C T rs34584424 CDK7 Nonsynonymous SNV T228M 0.015 0.018 0.014 8 18 7 0.021 4 0 0 0 0 34 47690 chr5 99897866 99897866 G A rs6874840 FAM174A Synonymous SNV T181T 0.294 0.302 0.296 120 345 116 0.308 87 51 18 19 19 14.65 47691 chr5 33614467 33614467 C A rs61748197 ADAMTS12 Synonymous SNV V716V 0.018 0.013 0.024 3 21 5 0.008 7 0 0 0 0 15.16 47692 chr10 26508143 26508143 C A rs2839672 GAD2 Nonsynonymous SNV P153Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 28.3 47693 chr18 48447462 48447462 A C rs59409558 ME2 Nonsynonymous SNV N321H 0.021 0.034 0.034 5 25 13 0.013 10 0 0 0 0 23.3 47694 chr10 27009219 27009219 T C rs146170591 PDSS1 Synonymous SNV D180D 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign/Likely benign 2.118 47695 chr6 102483356 102483356 C A rs3213607 GRIK2 Synonymous SNV I742I 0.051 0.044 0.048 18 60 17 0.046 14 2 0 0 0 Likely benign 20.1 47696 chr5 35072712 35072712 T G rs72478580 PRLR Nonsynonymous SNV I69L 0.049 0.042 0.034 19 57 16 0.049 10 2 0 0 0 Conflicting interpretations of pathogenicity 2.555 47697 chr17 68172326 68172326 C T rs173135 KCNJ2 Synonymous SNV L382L 0.11 0.096 0.112 41 129 37 0.105 33 8 3 0 2 Benign 5.586 47698 chr18 51820209 51820209 T C rs3218786 POLI Nonsynonymous SNV F411S 0.023 0.034 0.048 5 27 13 0.013 14 0 0 0 0 27.5 47699 chr5 176074643 176074643 G A rs74793226 TSPAN17 Synonymous SNV Q9Q 0.022 0.029 0.02 5 26 11 0.013 6 0 0 0 0 10.31 47700 chr6 10587056 10587056 A G rs71548508 GCNT2 Synonymous SNV L278L 0.13 0.135 0.099 50 153 52 0.128 29 14 4 0 5 1.133 47701 chr5 70818130 70818130 C A rs34529158 BDP1 Nonsynonymous SNV P1669Q 0.02 0.008 0.034 11 23 3 0.028 10 0 0 0 0 Benign 7.079 47702 chr5 70834892 70834892 C A rs35131626 BDP1 Synonymous SNV I1972I 0.02 0.008 0.037 11 23 3 0.028 11 0 0 0 0 Benign 17.72 47703 chr6 152443761 152443761 C T rs2295192 SYNE1 Nonsynonymous SNV R913Q 0.049 0.06 0.044 21 57 23 0.054 13 1 1 0 0 Benign 13.99 47704 chr5 176522562 176522562 C T rs351854 FGFR4 Synonymous SNV A513A 0.018 0.021 0.017 7 21 8 0.018 5 0 0 0 0 14.6 47705 chr5 89943433 89943433 A G rs950692 ADGRV1 Synonymous SNV A1047A 0.14 0.128 0.173 38 164 49 0.097 51 12 3 5 3 Benign 0.904 47706 chr5 176639105 176639105 T C rs28932181 NSD1 Synonymous SNV N1235N 0.072 0.076 0.071 30 84 29 0.077 21 4 1 3 0 Benign 0.259 47707 chr18 55273189 55273189 G A rs373175625 NARS1 Nonsynonymous SNV P384L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26 47708 chr6 152470752 152470752 C A rs17082236 SYNE1 Nonsynonymous SNV A323S 0.089 0.115 0.122 37 104 44 0.095 36 5 2 1 3 Benign/Likely benign 21.3 47709 chr5 71494906 71494906 G A rs61734262 MAP1B Synonymous SNV K1782K 0.154 0.141 0.133 82 181 54 0.21 39 14 2 4 6 8.062 47710 chr5 89979691 89979691 A G rs41303352 ADGRV1 Nonsynonymous SNV N1985D 0.145 0.128 0.177 39 170 49 0.1 52 12 3 5 3 Benign 23.6 47711 chr5 176734657 176734657 C T rs113162836 MXD3 Nonsynonymous SNV E185K 0.029 0.021 0.027 12 34 8 0.031 8 0 0 0 0 21.5 47712 chr5 35695844 35695844 T C rs78576797 SPEF2 Synonymous SNV N661N 0.037 0.036 0.061 22 43 14 0.056 18 3 0 1 0 Benign 0.032 47713 chr5 89979750 89979750 G T rs16868972 ADGRV1 Nonsynonymous SNV L2004F 0.153 0.141 0.201 46 180 54 0.118 59 17 4 7 4 Benign 23.5 47714 chr10 30658470 30658470 C T rs552900258 GOLGA2P6 0 0 0.01 0 0 0 0 3 0 0 0 0 3.285 47715 chr5 37182862 37182862 C T rs149313666 CPLANE1 Synonymous SNV K1807K 0.016 0.047 0.014 5 19 18 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 11.79 47716 chr5 37348686 37348686 C T NUP155 Nonsynonymous SNV G306R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 34 47717 chr6 109468136 109468136 A G rs61738623 CEP57L1 Synonymous SNV K112K 0.028 0.034 0.034 5 33 13 0.013 10 1 1 0 0 1.168 47718 chr5 90001368 90001368 T G rs6880570 ADGRV1 Synonymous SNV L2846L 0.143 0.128 0.177 40 168 49 0.103 52 11 3 5 3 Benign 9.46 47719 chr5 38496637 38496637 C T rs3729740 LIFR Nonsynonymous SNV D578N 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 Benign 12.98 47720 chr6 109886005 109886005 T C rs7757895 AK9 Synonymous SNV P796P 0.279 0.299 0.255 95 328 115 0.244 75 50 20 11 12 1.65 47721 chr6 109894773 109894773 T A rs12175588 AK9 Nonsynonymous SNV D739V 0.279 0.299 0.255 95 328 115 0.244 75 50 20 11 12 8.777 47722 chr5 90016871 90016871 G A rs16869032 ADGRV1 Nonsynonymous SNV G3248D 0.143 0.128 0.177 41 168 49 0.105 52 11 3 5 3 Benign 33 47723 chr10 3176389 3176389 C T rs2306311 SNORD142 0 0 0.146 0 0 0 0 43 0 0 9 0 5.89 47724 chr10 3176456 3176456 G A rs2306312 SNORD142 0 0 0.673 0 0 0 0 198 0 0 71 0 0.007 47725 chr5 38925370 38925370 C T rs2289925 OSMR Synonymous SNV N703N 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 6.059 47726 chr5 38933455 38933455 C A rs142014556 OSMR Nonsynonymous SNV A950E 0.018 0.013 0.017 3 21 5 0.008 5 0 0 0 1 Benign 26.5 47727 chr6 109954518 109954518 T C rs9374111 AK9 Synonymous SNV L314L 0.275 0.297 0.241 96 323 114 0.246 71 50 20 11 12 0.27 47728 chr5 38950072 38950072 G C rs190447147 RICTOR Nonsynonymous SNV S1293C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.9 47729 chr10 3188058 3188058 G A rs45534440 PITRM1-AS1 0 0 0.16 0 0 0 0 47 0 0 5 0 3.88 47730 chr10 3188071 3188071 T G rs3758630 PITRM1-AS1 0 0 0.616 0 0 0 0 181 0 0 63 0 4.355 47731 chr6 110760008 110760008 A G rs12210538 SLC22A16 Nonsynonymous SNV M409T 0.279 0.286 0.306 120 328 110 0.308 90 42 14 10 18 23.6 47732 chr5 39376988 39376988 C T rs3733801 DAB2 Nonsynonymous SNV S613N 0.15 0.12 0.133 49 176 46 0.126 39 11 2 3 3 15.27 47733 chr5 90150008 90150008 G A ADGRV1 Nonsynonymous SNV A5862T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26 47734 chr6 111493953 111493953 C T rs33965856 SLC16A10 Synonymous SNV S133S 0.074 0.073 0.099 35 87 28 0.09 29 1 1 1 3 18.42 47735 chr6 154567863 154567863 C T rs34427887 IPCEF1, OPRM1 Stop gain R401X 0.073 0.07 0.099 24 86 27 0.062 29 2 1 1 0 drug response 34 47736 chr5 90449154 90449154 G A rs13158963 ADGRV1 Synonymous SNV G6247G 0.156 0.122 0.146 59 183 47 0.151 43 13 3 1 3 Benign 12.63 47737 chr18 56204794 56204794 C T rs56390741 ALPK2 Synonymous SNV T875T 0.04 0.026 0.037 8 47 10 0.021 11 1 0 0 0 11.94 47738 chr18 56204796 56204796 T G rs34109891 ALPK2 Nonsynonymous SNV T875P 0.037 0.023 0.027 8 43 9 0.021 8 1 0 0 0 4.137 47739 chr5 93731957 93731957 C A rs556550987 KIAA0825 Nonsynonymous SNV G1049C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.5 47740 chr6 15524687 15524687 C A rs141441189 DTNBP1 Nonsynonymous SNV R294L 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 Uncertain significance 1.448 47741 chr6 111696091 111696091 T C rs458017 REV3L Nonsynonymous SNV Y1156C 0.085 0.102 0.095 41 100 39 0.105 28 3 1 1 4 0.005 47742 chr6 155465777 155465777 T A rs150082754 TIAM2 Nonsynonymous SNV N556K 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 6.571 47743 chr5 39153688 39153688 G A rs762792496 FYB1 Nonsynonymous SNV T395M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 8.519 47744 chr5 93987532 93987532 C A rs6891545 SLF1 Nonsynonymous SNV S288R 0.095 0.112 0.02 48 111 43 0.123 6 3 1 3 7 0.001 47745 chr5 94230358 94230358 C T rs9885412 MCTP1 Nonsynonymous SNV R345K 0.098 0.099 0.126 48 115 38 0.123 37 6 1 1 3 24.6 47746 chr6 106967185 106967185 A C rs1159148 CRYBG1 Nonsynonymous SNV Q293P 0.244 0.255 0.224 114 287 98 0.292 66 33 7 3 15 0.074 47747 chr5 94259682 94259682 C T rs72775394 MCTP1 Synonymous SNV K198K 0.084 0.081 0.054 43 99 31 0.11 16 6 0 1 4 16.66 47748 chr6 155569168 155569168 C T rs41284218 TIAM2 Synonymous SNV D154D 0.078 0.109 0.116 29 91 42 0.074 34 3 1 2 1 17.33 47749 chr17 72539068 72539068 C T rs16978106 CD300C Synonymous SNV T153T 0.031 0.031 0.051 13 36 12 0.033 15 0 0 1 0 10.05 47750 chr6 111913070 111913070 G A rs13190932 TRAF3IP2 Nonsynonymous SNV R74W 0.078 0.083 0.095 39 92 32 0.1 28 3 2 2 1 Benign 13.95 47751 chr17 72540936 72540936 G A rs11870245 CD300C Nonsynonymous SNV T71I 0.034 0.031 0.058 14 40 12 0.036 17 0 0 1 0 22.7 47752 chr6 106999822 106999822 G A rs2297970 CRYBG1 Nonsynonymous SNV C1395Y 0.268 0.271 0.289 113 315 104 0.29 85 43 8 7 15 18.22 47753 chr18 56246682 56246682 T G rs114432784 ALPK2 Synonymous SNV S442S 0.018 0.013 0.02 7 21 5 0.018 6 1 0 0 0 0.322 47754 chr6 111913262 111913262 C T rs33980500 TRAF3IP2 Nonsynonymous SNV D10N 0.101 0.099 0.105 49 119 38 0.126 31 7 4 2 1 Benign 29 47755 chr10 35897125 35897125 G C rs75803523 GJD4 Synonymous SNV P228P 0.039 0.047 0.058 16 46 18 0.041 17 0 1 1 0 7.18 47756 chr6 112457383 112457383 G C rs1050349 LAMA4 Nonsynonymous SNV P1119R 0.235 0.294 0.241 98 276 113 0.251 71 27 18 12 4 Benign 23.7 47757 chr5 179201298 179201298 C T rs61753466 MAML1 Nonsynonymous SNV P824L 0.022 0.016 0.02 8 26 6 0.021 6 0 1 0 0 Benign 17.73 47758 chr17 72916431 72916431 C T rs745992000 USH1G Nonsynonymous SNV R64H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 26.6 47759 chr6 109762332 109762332 C T rs1048197 SMPD2 Nonsynonymous SNV P3L 0.078 0.063 0.068 34 92 24 0.087 20 5 0 1 3 23.1 47760 chr10 44345353 44345353 C T rs74420036 LINC00619 0 0 0.065 0 0 0 0 19 0 0 1 0 0.916 47761 chr10 44868465 44868465 C T rs12258838 CXCL12 Synonymous SNV L61L 0.052 0.039 0.061 19 61 15 0.049 18 1 0 1 2 5.682 47762 chr5 96228072 96228072 C T rs75263594 ERAP2 Nonsynonymous SNV T302M 0.031 0.044 0.031 15 36 17 0.038 9 1 0 0 1 26.8 47763 chr18 60241579 60241579 T C rs6567290 ZCCHC2 Synonymous SNV P755P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.105 47764 chr5 45696156 45696156 G T HCN1 Synonymous SNV R14R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 9.519 47765 chr10 45799065 45799065 - A rs35302355 OR13A1 Frameshift insertion Y269Lfs*66 0.051 0.042 0.044 29 60 16 0.074 13 1 1 0 1 47766 chr6 159458006 159458006 G T rs148545546 TAGAP Nonsynonymous SNV A287D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 3.98 47767 chr18 61022505 61022505 T C KDSR Nonsynonymous SNV M117V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 47768 chr5 96232568 96232568 - TAAGTCATATGTTGGGTAACGATAGACTGTTATTTAATCTAGAAAGTAACAGAATAATTGTGAATGTTTATAAATAGCTATATATTGTCAGTCAACCATA ERAP2 0.011 0.031 0.01 2 13 12 0.005 3 0 2 1 0 47769 chr6 109837147 109837147 A G rs150078049 AK9 Synonymous SNV C1326C 0.054 0.042 0.024 14 63 16 0.036 7 4 0 0 0 7.074 47770 chr10 46967337 46967337 G A rs151124154 LOC101927699 0.02 0.029 0.014 7 24 11 0.018 4 0 0 0 0 12.98 47771 chr5 96315320 96315320 C G rs61752351 LNPEP Nonsynonymous SNV I166M 0.023 0.034 0.024 13 27 13 0.033 7 0 0 0 0 0.001 47772 chr6 110064928 110064928 A T rs2295837 FIG4 Nonsynonymous SNV M364L 0.078 0.063 0.071 33 91 24 0.085 21 5 0 1 3 Benign/Likely benign 11.48 47773 chr6 111346701 111346701 G A rs41289886 RPF2 Synonymous SNV R216R 0.017 0.016 0.014 6 20 6 0.015 4 0 0 0 0 12.21 47774 chr5 52201722 52201722 C T rs4145748 ITGA1 Nonsynonymous SNV T480M 0.051 0.07 0.051 22 60 27 0.056 15 1 1 0 0 32 47775 chr5 52214581 52214581 G A rs2279587 ITGA1 Nonsynonymous SNV V670I 0.05 0.07 0.051 21 59 27 0.054 15 1 1 0 0 23.3 47776 chr5 52229745 52229745 T G rs12520591 ITGA1 Nonsynonymous SNV I961M 0.041 0.057 0.051 19 48 22 0.049 15 1 1 0 0 24.2 47777 chr5 52367773 52367773 C T rs41366951 ITGA2 Synonymous SNV P747P 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Likely benign 14.75 47778 chr5 180631778 180631778 A T rs2770944 TRIM7 Synonymous SNV A111A 0.012 0.021 0.003 6 14 8 0.015 1 0 1 0 0 1.687 47779 chr6 117714449 117714449 G A rs1002056236 ROS1 Synonymous SNV I400I 0.003 0 0 0 4 0 0 0 0 0 0 0 14.03 47780 chr6 117725578 117725578 T A rs2243378 ROS1 Synonymous SNV L101L 0.432 0.484 0.459 180 507 186 0.462 135 107 42 33 38 0.661 47781 chr18 61587044 61587044 C T rs145764045 SERPINB10 Nonsynonymous SNV T132I 0.013 0.005 0.007 3 15 2 0.008 2 0 0 0 0 23.5 47782 chr5 53815219 53815219 G A rs35241631 SNX18 Synonymous SNV E479E 0.07 0.076 0.041 26 82 29 0.067 12 1 1 0 0 5.101 47783 chr6 116574703 116574703 G T rs182432245 TSPYL4 Nonsynonymous SNV R157S 0.009 0.016 0.01 1 10 6 0.003 3 0 0 0 0 1.744 47784 chr6 160543123 160543123 T C rs1867351 SLC22A1 Synonymous SNV S52S 0.206 0.185 0.221 73 242 71 0.187 65 23 7 7 8 0.065 47785 chr6 160543229 160543229 T C rs55918055 SLC22A1 Nonsynonymous SNV C88R 0.02 0.013 0.014 4 23 5 0.01 4 1 0 0 0 24.8 47786 chr17 74014228 74014228 G A rs8071298 EVPL Synonymous SNV G517G 0.041 0.036 0.044 19 48 14 0.049 13 1 0 0 1 4.405 47787 chr5 54277826 54277826 C T rs142604597 ESM1 Synonymous SNV T150T 0.006 0.013 0.007 7 7 5 0.018 2 0 0 0 0 Benign 11.06 47788 chr6 12125565 12125565 T G rs201148381 HIVEP1 Nonsynonymous SNV F1846C 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 15.34 47789 chr10 4889403 4889403 C T rs12240276 AKR1E2 Stop gain R203X 0.106 0.141 0.126 52 125 54 0.133 37 3 3 1 3 39 47790 chr18 66504341 66504341 A G rs1034040221 CCDC102B Nonsynonymous SNV N114S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 47791 chr6 160560881 160560883 ATG - rs202220802 SLC22A1 M420del 0.158 0.151 0.133 58 185 58 0.149 39 19 2 3 6 47792 chr5 54527476 54527476 G A rs139167004 CCNO Synonymous SNV A260A 0.011 0.008 0.017 7 13 3 0.018 5 0 0 0 0 Benign 7.702 47793 chr6 10906256 10906256 A G rs4713039 SYCP2L Synonymous SNV K215K 0.215 0.188 0.19 88 252 72 0.226 56 36 9 9 6 2.227 47794 chr6 109322554 109322554 C T rs12214121 SESN1 Synonymous SNV Q102Q 0.141 0.138 0.146 51 166 53 0.131 43 16 5 3 4 3.253 47795 chr6 109323519 109323519 G T rs2273668 SESN1 Nonsynonymous SNV L44I 0.141 0.138 0.146 51 166 53 0.131 43 16 5 3 4 23 47796 chr6 10942964 10942964 A G rs3798751 SYCP2L Nonsynonymous SNV N647D 0.033 0.023 0.034 14 39 9 0.036 10 1 1 0 0 22.8 47797 chr5 54468450 54468450 T C rs138811807 CDC20B Nonsynonymous SNV D31G 0.015 0.016 0.014 5 18 6 0.013 4 0 0 0 0 2.224 47798 chr6 109480562 109480562 T C rs61743581 CEP57L1 Nonsynonymous SNV W184R 0.135 0.143 0.136 52 159 55 0.133 40 9 6 4 5 0.056 47799 chr17 74276788 74276788 T C rs61759535 QRICH2 Nonsynonymous SNV K1304E 0.007 0.016 0.003 5 8 6 0.013 1 0 0 0 0 24.9 47800 chr6 117658337 117658337 T G rs537810933 ROS1 Nonsynonymous SNV K1749T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 47801 chr6 161139857 161139857 A G rs13231 PLG Synonymous SNV Q361Q 0.318 0.299 0.316 135 373 115 0.346 93 55 13 17 26 0.005 47802 chr5 55412471 55412471 C T rs60779428 ANKRD55 Synonymous SNV A312A 0.049 0.055 0.082 22 57 21 0.056 24 0 0 0 1 18.1 47803 chr6 161152240 161152240 G A rs4252125 PLG Nonsynonymous SNV D472N 0.317 0.292 0.316 136 372 112 0.349 93 55 13 17 26 Benign 0.104 47804 chr6 127767954 127767954 G A rs139745911 KIAA0408 Nonsynonymous SNV P504S 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 18.84 47805 chr5 56168712 56168712 C T rs2229882 MAP3K1 Synonymous SNV T522T 0.083 0.07 0.048 35 98 27 0.09 14 2 1 0 1 Benign 8.304 47806 chr6 161807855 161807855 C G rs1801582 PRKN Nonsynonymous SNV V231L 0.196 0.18 0.15 67 230 69 0.172 44 17 9 2 4 Benign 3.433 47807 chr6 110567409 110567409 G A rs2334321 METTL24 Nonsynonymous SNV L84F 0.049 0.029 0.051 13 58 11 0.033 15 1 0 0 0 27 47808 chr18 72226578 72226578 C A rs9807352 CNDP1 Synonymous SNV A58A 0.023 0.034 0.034 8 27 13 0.021 10 0 0 0 0 15.74 47809 chr6 166572045 166572045 C T rs3127328 TBXT Nonsynonymous SNV G298S 0.1 0.102 0.088 31 117 39 0.079 26 4 2 1 1 8.842 47810 chr5 34042977 34042977 G A rs531769358 C1QTNF3 Nonsynonymous SNV P85L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 47811 chr17 74878259 74878259 G A rs571264 MGAT5B Nonsynonymous SNV V81I 0.096 0.094 0.133 51 113 36 0.131 39 9 3 3 3 12.95 47812 chr18 72344052 72344052 A G rs77148611 ZNF407 Synonymous SNV V359V 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Likely benign 0.632 47813 chr5 34823604 34823604 G A rs147963481 RAI14 Nonsynonymous SNV V524M 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 23.5 47814 chr6 129762112 129762112 G A rs2297738 LAMA2 Synonymous SNV T2079T 0.159 0.169 0.143 74 187 65 0.19 42 12 2 4 5 Benign/Likely benign 10.32 47815 chr18 74090864 74090864 A G rs140499406 ZNF516 Nonsynonymous SNV F1069L 0.004 0.013 0.01 4 5 5 0.01 3 0 0 0 0 5.407 47816 chr18 74153258 74153258 G A rs114279579 ZNF516 Synonymous SNV L585L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 0.143 47817 chr18 74154141 74154141 G A rs7233640 ZNF516 Synonymous SNV F290F 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 5.646 47818 chr18 74154762 74154762 G A rs116023282 ZNF516 Synonymous SNV S83S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 6.58 47819 chr10 50732139 50732139 C T rs4253047 ERCC6 Nonsynonymous SNV G446D 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign/Likely benign 22.9 47820 chr6 166739646 166739646 T C rs11551053 SFT2D1 Nonsynonymous SNV I109V 0.058 0.07 0.051 20 68 27 0.051 15 3 2 0 1 0.001 47821 chr5 82837897 82837897 G A rs113014073 VCAN Synonymous SNV T2038T 0.047 0.06 0.044 16 55 23 0.041 13 3 2 0 0 Benign 10.82 47822 chr5 57754851 57754851 A G rs702722 PLK2 Synonymous SNV I113I 0.101 0.102 0.068 38 119 39 0.097 20 6 2 1 4 8.185 47823 chr6 123594510 123594510 - A rs147062785 TRDN 0.17 0.112 0.031 62 199 43 0.159 9 23 5 1 8 47824 chr5 60628154 60628159 GGCGGC - rs864309617 ZSWIM6 G25_G26del 0.014 0.016 0.01 8 16 6 0.021 3 1 1 0 0 47825 chr5 60839535 60839535 G A rs374621238 ZSWIM6 Synonymous SNV A1013A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 5.544 47826 chr5 63665448 63665448 G A rs76090587 RNF180 Nonsynonymous SNV R529H 0.114 0.104 0.099 31 134 40 0.079 29 6 1 0 1 15.07 47827 chr6 167369650 167369650 G A rs12193095 RNASET2 Synonymous SNV R7R 0.057 0.094 0.044 15 67 36 0.038 13 3 1 0 0 Likely benign 11.57 47828 chr6 130761867 130761867 T C rs12207253 TMEM200A Synonymous SNV N100N 0.051 0.057 0.037 24 60 22 0.062 11 0 1 0 1 0.053 47829 chr6 167549775 167549775 T C rs3093007 CCR6 Synonymous SNV F19F 0.167 0.18 0.153 63 196 69 0.162 45 11 8 1 0 2.241 47830 chr5 637637 637637 A G rs62000999 CEP72 Nonsynonymous SNV M304V 0.007 0.008 0.007 5 8 3 0.013 2 1 0 0 0 0.001 47831 chr6 126070949 126070949 C T HEY2 Synonymous SNV T9T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.43 47832 chr18 76870397 76870397 G A rs492657 ATP9B Synonymous SNV E112E 0.043 0.055 0.075 21 50 21 0.054 22 0 1 2 2 9.991 47833 chr18 77097360 77097360 A T rs585033 ATP9B Nonsynonymous SNV M732L 0.043 0.055 0.068 21 50 21 0.054 20 1 1 2 2 9.73 47834 chr6 167728791 167728791 G A rs7739897 UNC93A Nonsynonymous SNV V367I 0.09 0.065 0.068 39 106 25 0.1 20 4 0 0 7 0.012 47835 chr10 52384913 52384913 A G rs74131448 SGMS1-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 9.336 47836 chr10 52390836 52390836 A G rs7904101 SGMS1-AS1 0 0 0.565 0 0 0 0 166 0 0 63 0 6.122 47837 chr5 90000210 90000210 C T rs16869016 ADGRV1 Nonsynonymous SNV S2764L 0.073 0.06 0.075 17 86 23 0.044 22 4 1 2 0 Benign 11.02 47838 chr17 76496345 76496345 A C rs35886523 DNAH17-AS1 0.017 0.018 0.037 7 20 7 0.018 11 1 0 0 0 0.001 47839 chr6 128294167 128294167 C T rs766949693 PTPRK Synonymous SNV P1422P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.32 47840 chr6 167754721 167754721 G A rs9457304 TTLL2 Nonsynonymous SNV G445S 0.072 0.055 0.068 28 85 21 0.072 20 2 0 1 4 1.611 47841 chr6 129419330 129419330 G A rs368349321 LAMA2 Nonsynonymous SNV A137T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 31 47842 chr18 77475187 77475187 - GGA rs3833180 CTDP1 E463_D464insE 0.053 0.047 0.048 25 62 18 0.064 14 1 0 0 0 47843 chr10 5436097 5436097 C T rs115615637 TUBAL3 Nonsynonymous SNV V202I 0.014 0.005 0.003 2 17 2 0.005 1 0 0 0 0 0.536 47844 chr5 66449305 66449305 C T rs56383960 MAST4 Nonsynonymous SNV P921L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 32 47845 chr5 90074759 90074759 G A rs35092519 ADGRV1 Synonymous SNV A4309A 0.03 0.031 0.051 6 35 12 0.015 15 0 0 0 0 Benign 10.74 47846 chr10 5437414 5437414 C G rs141364432 TUBAL3 Nonsynonymous SNV R51P 0.014 0.005 0.003 2 17 2 0.005 1 0 0 0 0 24.9 47847 chr6 132966348 132966348 G A rs8192619 TAAR1 Synonymous SNV C265C 0.034 0.034 0.037 9 40 13 0.023 11 1 0 0 0 2.337 47848 chr6 133045040 133045040 C T rs9483495 VNN3 Nonsynonymous SNV A112T 0.029 0.013 0.031 7 34 5 0.018 9 0 0 1 0 13.94 47849 chr5 66462325 66462325 T A rs3188121 MAST4 Nonsynonymous SNV S2179T 0.054 0.052 0.041 17 63 20 0.044 12 2 1 0 0 17 47850 chr19 372689 372689 G A rs35119230 THEG Nonsynonymous SNV R169C 0.049 0.036 0.082 20 57 14 0.051 24 1 0 0 0 26.3 47851 chr5 36049417 36049417 G A rs765252565 UGT3A2 Synonymous SNV F105F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.86 47852 chr6 129807714 129807714 G A rs2229850 LAMA2 Synonymous SNV P2611P 0.215 0.273 0.194 81 252 105 0.208 57 34 15 7 7 Benign 14.05 47853 chr6 129813053 129813053 A G rs2244008 LAMA2 Nonsynonymous SNV T2632A 0.032 0.055 0.054 11 37 21 0.028 16 1 0 0 0 Benign 17.27 47854 chr5 9122890 9122890 C A rs17238053 SEMA5A Synonymous SNV T553T 0.087 0.089 0.088 19 102 34 0.049 26 7 1 3 0 14.89 47855 chr5 9136646 9136646 C G rs17238609 SEMA5A Synonymous SNV T523T 0.087 0.089 0.085 20 102 34 0.051 25 7 1 3 0 15.07 47856 chr5 92929290 92929290 G A rs201229023 NR2F1 Synonymous SNV A338A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 8.956 47857 chr5 37196028 37196028 C T rs72736758 CPLANE1 Nonsynonymous SNV G1248D 0.06 0.049 0.068 34 70 19 0.087 20 0 1 0 1 Conflicting interpretations of pathogenicity 24 47858 chr5 93159971 93159971 T C rs141777861 FAM172A Synonymous SNV E153E 0.012 0.003 0.01 4 14 1 0.01 3 0 0 0 0 11.29 47859 chr5 67575548 67575548 T C rs61749601 PIK3R1 Synonymous SNV I207I 0.026 0.044 0.051 9 30 17 0.023 15 2 0 0 0 Benign/Likely benign 10.44 47860 chr6 133105120 133105120 C T rs6926101 SLC18B1 Nonsynonymous SNV V204I 0.058 0.049 0.034 25 68 19 0.064 10 3 0 0 1 0.063 47861 chr6 169641865 169641865 T C rs116195540 THBS2 Nonsynonymous SNV K295E 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 10.17 47862 chr6 133118214 133118214 C T rs34688576 SLC18B1 Synonymous SNV S30S 0.055 0.049 0.034 22 65 19 0.056 10 2 0 0 1 10.95 47863 chr5 38350643 38350643 G A rs2561111 EGFLAM Nonsynonymous SNV R111H 0.089 0.094 0.15 32 104 36 0.082 44 4 1 4 2 25.3 47864 chr17 76808978 76808978 G A rs148947886 USP36 Synonymous SNV I457I 0.003 0 0 9 3 0 0.023 0 0 0 0 0 9.406 47865 chr6 170047902 170047902 T A rs61740334 WDR27 Nonsynonymous SNV T351S 0.078 0.078 0.109 39 92 30 0.1 32 1 1 3 5 0.001 47866 chr5 68661548 68661548 G A rs4252233 TAF9 Nonsynonymous SNV T6M 0.018 0.023 0.01 6 21 9 0.015 3 0 1 0 0 16.87 47867 chr5 94756010 94756010 C T rs11555275 FAM81B Nonsynonymous SNV A187V 0.044 0.047 0.034 24 52 18 0.062 10 0 2 0 1 12.68 47868 chr6 170058095 170058095 C A rs9478089 WDR27 Nonsynonymous SNV G416W 0.114 0.089 0.007 30 134 34 0.077 2 12 2 1 0 2.87 47869 chr6 170058374 170058374 C T rs3800544 WDR27 Nonsynonymous SNV R276H 0.078 0.078 0.105 40 92 30 0.103 31 1 1 2 5 10.47 47870 chr6 132211534 132211534 A G rs1804025 ENPP1 Synonymous SNV A887A 0.037 0.042 0.041 18 43 16 0.046 12 2 0 0 0 Benign 9.217 47871 chr6 170068086 170068086 C T rs41265385 WDR27 Nonsynonymous SNV G218S 0.096 0.086 0.102 47 113 33 0.121 30 3 2 2 5 14.83 47872 chr6 137245534 137245534 G C rs150994900 SLC35D3 Nonsynonymous SNV Q317H 0.014 0.008 0.003 5 16 3 0.013 1 0 0 0 0 0.01 47873 chr6 170068180 170068180 A G rs3823465 WDR27 Synonymous SNV V186V 0.167 0.156 0.167 66 196 60 0.169 49 19 5 5 7 1.263 47874 chr6 137519588 137519588 A C rs11914 IFNGR1 Synonymous SNV S350S 0.238 0.247 0.252 95 279 95 0.244 74 38 12 7 10 Benign 0.017 47875 chr6 137536455 137536455 G A rs1327475 IFNGR1 Nonsynonymous SNV L2F 0.235 0.242 0.245 88 276 93 0.226 72 36 12 7 10 7.832 47876 chr6 170155477 170155477 A G rs17860632 ERMARD Nonsynonymous SNV I92V 0.014 0.008 0.007 1 17 3 0.003 2 0 0 0 0 Benign 0.006 47877 chr6 170162537 170162537 C T rs11966349 ERMARD Synonymous SNV C164C 0.101 0.083 0.122 48 118 32 0.123 36 3 1 2 5 Benign 15.37 47878 chr6 138539183 138539183 - G rs3841283 PBOV1 Frameshift insertion L117Pfs*33 0.043 0.016 0.044 9 51 6 0.023 13 2 0 0 0 47879 chr6 170176146 170176146 G A rs41265401 ERMARD Nonsynonymous SNV R376H 0.089 0.089 0.119 43 105 34 0.11 35 3 2 2 5 Benign 0.171 47880 chr6 138539315 138539315 A G rs6927706 PBOV1 Nonsynonymous SNV I73T 0.043 0.016 0.044 9 51 6 0.023 13 2 0 0 0 0.001 47881 chr10 6063508 6063508 G A rs2228149 IL2RA Synonymous SNV H172H 0.063 0.07 0.048 25 74 27 0.064 14 3 0 0 0 Benign 0.529 47882 chr6 138584685 138584685 T G rs7764091 ARFGEF3 Nonsynonymous SNV S689A 0.067 0.052 0.071 28 79 20 0.072 21 5 1 2 0 0.339 47883 chr5 96118811 96118811 G A rs146423238 ERAP1 Synonymous SNV C743C 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Benign 7.809 47884 chr5 70845414 70845414 G A rs780747194 BDP1 Nonsynonymous SNV E2326K 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 15.94 47885 chr17 77708876 77708876 G A ENPP7 Nonsynonymous SNV G145E 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 47886 chr17 77757806 77757806 C T rs146953738 CBX2 Synonymous SNV T188T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 6.305 47887 chr6 139071334 139071334 A C rs9402998 GVQW2 0.037 0.039 0 31 44 15 0.079 0 21 7 0 15 0.212 47888 chr10 61718356 61718356 T G rs183392397 LINC01553 0 0 0.01 0 0 0 0 3 0 0 0 0 0.017 47889 chr5 71491237 71491237 A C MAP1B Nonsynonymous SNV K559N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.852 47890 chr6 137330486 137330486 C T rs143005532 IL20RA Nonsynonymous SNV V72M 0.003 0.01 0 0 3 4 0 0 0 0 0 0 25.6 47891 chr6 125379112 125379112 G A rs475076 RNF217 Nonsynonymous SNV V381I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.7 47892 chr6 139576736 139576736 C T rs17068451 TXLNB Nonsynonymous SNV V348M 0.141 0.159 0.102 55 165 61 0.141 30 10 4 2 6 21.6 47893 chr6 139581461 139581461 C T rs6904970 TXLNB Synonymous SNV K332K 0.067 0.057 0.048 29 79 22 0.074 14 3 1 0 2 16.23 47894 chr17 78059821 78059821 T C rs117203086 CCDC40 Nonsynonymous SNV L752P 0.025 0.036 0.014 17 29 14 0.044 4 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 47895 chr5 42565967 42565967 T C rs201804261 GHR Synonymous SNV G4G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 13.46 47896 chr19 990238 990238 C T rs117300378 WDR18 Synonymous SNV D157D 0.105 0.102 0.065 37 123 39 0.095 19 6 2 2 1 14.43 47897 chr6 170862300 170862300 G C rs12717 PSMB1 Nonsynonymous SNV P11A 0.323 0.328 0.323 128 379 126 0.328 95 67 27 15 20 0.06 47898 chr6 13814340 13814340 T C rs1204145 MCUR1 Nonsynonymous SNV S108G 0.397 0.375 0.422 179 466 144 0.459 124 203 61 45 79 0.004 47899 chr6 142688969 142688969 A G rs17280293 ADGRG6 Nonsynonymous SNV S123G 0.057 0.031 0.027 21 67 12 0.054 8 2 0 0 1 24.7 47900 chr5 73205463 73205463 G A rs17634853 ARHGEF28 Nonsynonymous SNV R1150Q 0.049 0.031 0.041 20 58 12 0.051 12 2 0 1 0 Benign 23.2 47901 chr6 138196066 138196066 T G rs2230926 TNFAIP3 Nonsynonymous SNV F127C 0.037 0.044 0.051 11 43 17 0.028 15 0 1 2 0 not provided 15.6 47902 chr5 99871244 99871244 T A rs142597545 FAM174A Nonsynonymous SNV S4T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.007 47903 chr6 100957344 100957344 T C rs240768 ASCC3 Nonsynonymous SNV Y2176C 0.076 0.083 0.058 28 89 32 0.072 17 5 1 0 0 18.09 47904 chr6 143090803 143090803 C T rs34296594 HIVEP2 Synonymous SNV L1691L 0.069 0.068 0.078 26 81 26 0.067 23 4 0 1 2 6.04 47905 chr6 100964158 100964158 G A rs33988845 ASCC3 Synonymous SNV T1991T 0.07 0.073 0.048 27 82 28 0.069 14 5 1 0 0 10.79 47906 chr6 17675246 17675246 T C rs2228375 NUP153 Nonsynonymous SNV I248V 0.187 0.201 0.197 60 220 77 0.154 58 25 7 6 4 0.001 47907 chr6 100966006 100966006 C T rs3213542 ASCC3 Nonsynonymous SNV V1930M 0.072 0.083 0.054 28 84 32 0.072 16 5 1 0 0 27.1 47908 chr5 74017499 74017499 C T rs1048167 GFM2 Nonsynonymous SNV R727Q 0.141 0.167 0.194 69 165 64 0.177 57 12 5 6 6 Benign 18.27 47909 chr5 74037386 74037386 T A rs16872235 GFM2 Nonsynonymous SNV S300C 0.146 0.172 0.143 73 171 66 0.187 42 14 5 6 6 Benign 28.7 47910 chr6 10529449 10529449 C G rs77616261 GCNT2 Nonsynonymous SNV T102S 0.009 0.023 0.024 5 10 9 0.013 7 0 0 1 0 22.9 47911 chr5 74055209 74055209 T C rs957680 GFM2 Nonsynonymous SNV N64S 0.148 0.172 0.187 73 174 66 0.187 55 15 5 6 6 Benign 6.575 47912 chr6 139564101 139564101 C T rs12529180 TXLNB Synonymous SNV K539K 0.072 0.091 0.051 24 84 35 0.062 15 1 2 0 1 8.13 47913 chr6 144758799 144758799 A G rs4895642 UTRN Synonymous SNV E386E 0.307 0.286 0.279 107 361 110 0.274 82 58 21 12 12 7.179 47914 chr6 144811319 144811319 A G rs77066116 UTRN Nonsynonymous SNV Q1416R 0.015 0.01 0.024 5 18 4 0.013 7 0 0 0 0 Benign 20.4 47915 chr6 144878337 144878337 G T rs2293536 UTRN Synonymous SNV A2393A 0.053 0.057 0.065 17 62 22 0.044 19 2 2 1 0 4.719 47916 chr6 20546697 20546697 G A rs111739077 CDKAL1 Nonsynonymous SNV R39Q 0.008 0.003 0.02 2 9 1 0.005 6 0 0 0 0 Likely benign 29.8 47917 chr6 24403411 24403411 T C rs146260219 MRS2 Nonsynonymous SNV I46T 0.06 0.049 0.075 24 71 19 0.062 22 2 0 1 0 0.055 47918 chr6 24415380 24415380 G A rs3761788 MRS2 Synonymous SNV Q186Q 0.048 0.029 0.034 14 56 11 0.036 10 2 0 0 0 8.086 47919 chr5 5190182 5190182 C T rs34105281 ADAMTS16 Synonymous SNV H382H 0.042 0.036 0.024 22 49 14 0.056 7 2 0 0 0 14.38 47920 chr6 144806604 144806604 G A rs114468544 UTRN Synonymous SNV K1257K 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Benign 16.14 47921 chr6 144835942 144835942 A C rs144388800 UTRN Nonsynonymous SNV I1744L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 32 47922 chr6 24454396 24454396 C A rs61748830 GPLD1 Synonymous SNV G394G 0.066 0.057 0.075 25 77 22 0.064 22 3 0 1 1 14 47923 chr6 24489652 24489652 C T rs1126617 GPLD1 Nonsynonymous SNV V30I 0.27 0.247 0.299 77 317 95 0.197 88 43 10 12 7 0.002 47924 chr5 74907503 74907503 G A rs61164763 ANKDD1B Nonsynonymous SNV G15E 0.07 0.063 0.088 28 82 24 0.072 26 9 2 3 1 2.273 47925 chr6 24489691 24489691 G C rs2235501 GPLD1 Nonsynonymous SNV L17V 0.087 0.07 0.078 30 102 27 0.077 23 3 1 1 1 0.004 47926 chr6 145103215 145103215 C T rs10499236 UTRN Synonymous SNV L2930L 0.066 0.091 0.048 23 78 35 0.059 14 0 2 0 1 13.33 47927 chr6 24495330 24495330 G C rs4646832 ALDH5A1 Nonsynonymous SNV G36R 0.027 0.013 0.014 7 32 5 0.018 4 0 0 0 0 Benign 7.725 47928 chr5 74962768 74962768 C T rs6453139 ANKDD1B Nonsynonymous SNV S448L 0.066 0.07 0.048 18 78 27 0.046 14 1 2 0 1 11.14 47929 chr6 24503590 24503590 C T rs2760118 ALDH5A1 Nonsynonymous SNV H180Y 0.281 0.24 0.299 89 330 92 0.228 88 42 9 12 10 Benign 7.486 47930 chr6 24503597 24503597 C T rs3765310 ALDH5A1 Nonsynonymous SNV P182L 0.051 0.029 0.054 11 60 11 0.028 16 0 0 0 0 Benign/Likely benign 24.6 47931 chr6 131995313 131995313 A G rs9493048 ENPP3 Synonymous SNV P218P 0.15 0.154 0.173 59 176 59 0.151 51 13 5 6 3 5.395 47932 chr6 24559281 24559281 A G rs807541 KIAA0319 Synonymous SNV A309A 0.155 0.167 0.136 45 182 64 0.115 40 14 6 2 1 10.75 47933 chr5 52779510 52779510 G C rs11745088 FST Nonsynonymous SNV E152Q 0.001 0.01 0.003 2 1 4 0.005 1 0 0 0 0 Benign 19.49 47934 chr6 109274276 109274276 C T rs61741720 ARMC2 Nonsynonymous SNV T381M 0.044 0.029 0.024 17 52 11 0.044 7 2 0 0 1 28.6 47935 chr5 52781029 52781029 G A rs11746136 FST Synonymous SNV L308L 0.009 0.023 0.014 4 11 9 0.01 4 1 0 0 0 0.802 47936 chr5 75914003 75914003 T C rs2069700 F2RL2 Nonsynonymous SNV M155V 0.008 0.003 0.014 2 9 1 0.005 4 0 0 0 0 9.591 47937 chr6 149772295 149772295 T C rs142544743 ZC3H12D Nonsynonymous SNV T370A 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 0.001 47938 chr6 149795545 149795545 G A rs73779377 ZC3H12D Synonymous SNV S45S 0.009 0.013 0.017 0 10 5 0 5 0 0 0 0 8.947 47939 chr6 132938842 132938842 C T rs8192646 TAAR2 Stop gain W123X 0.026 0.021 0.02 10 31 8 0.026 6 0 0 0 0 37 47940 chr17 79094758 79094758 C T rs370391415 AATK Nonsynonymous SNV R890Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 35 47941 chr6 133015193 133015193 C T rs150683215 VNN1 Nonsynonymous SNV R157H 0.011 0.005 0.014 5 13 2 0.013 4 0 0 0 0 Likely benign 17.54 47942 chr6 150716533 150716533 T A rs4407723 IYD Nonsynonymous SNV F231I 0.055 0.047 0.054 14 65 18 0.036 16 1 0 0 0 3.66 47943 chr10 71851666 71851666 G C rs115009483 MACROH2A2 Nonsynonymous SNV G145R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.2 47944 chr6 150716697 150716697 G A rs4479949 IYD Nonsynonymous SNV C265Y 0.056 0.047 0.054 14 66 18 0.036 16 1 0 0 0 3.804 47945 chr6 133118216 133118216 A G rs41286192 SLC18B1 Nonsynonymous SNV S30P 0.038 0.034 0.044 23 45 13 0.059 13 2 1 0 1 20.4 47946 chr5 79024779 79024779 A G rs16877109 CMYA5 Nonsynonymous SNV Y64C 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 8.198 47947 chr5 79025317 79025317 A G rs1366270 CMYA5 Synonymous SNV Q243Q 0.093 0.081 0.058 43 109 31 0.11 17 5 2 0 4 0.124 47948 chr6 111587204 111587204 A G rs72939596 MFSD4B Nonsynonymous SNV T147A 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 0.001 47949 chr5 79025634 79025634 G A rs1366271 CMYA5 Nonsynonymous SNV G349D 0.093 0.081 0.054 44 109 31 0.113 16 5 2 0 4 0.094 47950 chr5 79026360 79026360 G A rs16877124 CMYA5 Nonsynonymous SNV G591D 0.093 0.081 0.058 43 109 31 0.11 17 5 2 0 4 12.88 47951 chr6 151671182 151671182 C T rs41289369 AKAP12 Synonymous SNV A447A 0.048 0.047 0.027 21 56 18 0.054 8 2 0 1 0 12.64 47952 chr6 151672812 151672812 G A rs3734797 AKAP12 Nonsynonymous SNV V991I 0.048 0.047 0.027 21 56 18 0.054 8 2 0 1 0 13.08 47953 chr5 79026539 79026539 A C rs57544556 CMYA5 Nonsynonymous SNV S651R 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 0.005 47954 chr6 26056604 26056604 G A rs2230653 H1-2 Nonsynonymous SNV A18V 0.039 0.044 0.031 17 46 17 0.044 9 2 0 0 0 2.958 47955 chr17 79358839 79358839 G A rs4969433 LOC100130370 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.613 47956 chr5 79027605 79027605 T C rs6893869 CMYA5 Nonsynonymous SNV V1006A 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 11.52 47957 chr5 79027700 79027700 T C rs62621915 CMYA5 Nonsynonymous SNV F1038L 0.049 0.049 0.027 28 57 19 0.072 8 1 0 0 2 22.5 47958 chr6 151674593 151674593 G T rs3734795 AKAP12 Nonsynonymous SNV E1584D 0.052 0.049 0.041 20 61 19 0.051 12 3 0 2 0 17.78 47959 chr6 26108168 26108168 G A rs2051542 H1-6 Nonsynonymous SNV L52F 0.068 0.081 0.075 29 80 31 0.074 22 5 1 0 1 11.4 47960 chr6 151789868 151789868 G A rs35972078 ARMT1 Nonsynonymous SNV A198T 0.178 0.161 0.194 63 209 62 0.162 57 27 7 7 4 8.064 47961 chr5 7804706 7804706 C G rs148142196 ADCY2 Synonymous SNV S928S 0.015 0.008 0.014 5 18 3 0.013 4 0 0 0 0 Benign 12.82 47962 chr5 79028513 79028513 A G rs16877133 CMYA5 Nonsynonymous SNV I1309V 0.049 0.049 0.031 28 57 19 0.072 9 1 0 0 2 1.134 47963 chr17 79580457 79580457 C A rs17852306 NPLOC4 Synonymous SNV T91T 0.03 0.013 0.048 13 35 5 0.033 14 0 0 0 0 16.33 47964 chr6 138202365 138202365 G A rs368859219 TNFAIP3 Nonsynonymous SNV R761H 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 25.3 47965 chr5 78076460 78076460 C T rs35757003 ARSB Synonymous SNV P454P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 16.83 47966 chr5 79028586 79028586 C T rs16877135 CMYA5 Nonsynonymous SNV A1333V 0.049 0.049 0.031 28 57 19 0.072 9 1 0 0 2 13.16 47967 chr17 79634774 79634774 A T rs61742303 CCDC137 Nonsynonymous SNV K50N 0.187 0.19 0.173 65 220 73 0.167 51 22 8 6 4 26.1 47968 chr6 26184102 26184102 G A rs7766641 H2BC6 Nonsynonymous SNV G27S 0.25 0.245 0.201 84 294 94 0.215 59 35 13 10 7 17.63 47969 chr5 79029288 79029288 C A rs1428223 CMYA5 Nonsynonymous SNV A1567E 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 8.631 47970 chr5 78181481 78181481 T A rs16876029 ARSB Synonymous SNV T356T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 11.98 47971 chr17 79634813 79634813 T C rs11546632 CCDC137 Synonymous SNV I63I 0.185 0.188 0.173 65 217 72 0.167 51 21 8 6 4 10.57 47972 chr5 79029383 79029383 T G rs1428224 CMYA5 Nonsynonymous SNV S1599A 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 0.509 47973 chr17 79637367 79637367 C G rs7226091 CCDC137 Nonsynonymous SNV H127Q 0.214 0.211 0.238 82 251 81 0.21 70 27 9 9 6 0.005 47974 chr6 26235108 26235108 T C rs138719852 HIST1H1D Synonymous SNV T18T 0.006 0.003 0.01 4 7 1 0.01 3 0 0 0 0 Likely benign 0.027 47975 chr17 79638805 79638805 C T rs11150805 CCDC137 Nonsynonymous SNV R177W 0.184 0.188 0.173 64 216 72 0.164 51 21 8 6 4 26.8 47976 chr5 79029726 79029726 T A rs16877141 CMYA5 Nonsynonymous SNV I1713N 0.049 0.049 0.031 28 57 19 0.072 9 1 0 0 2 16.51 47977 chr10 73121768 73121768 C T rs61737431 SLC29A3 Synonymous SNV P199P 0.032 0.016 0.02 14 37 6 0.036 6 0 0 0 1 Benign 10.18 47978 chr10 73121779 73121779 T C rs79737301 SLC29A3 Nonsynonymous SNV L203P 0.032 0.016 0.02 14 37 6 0.036 6 0 0 0 1 Benign 0.083 47979 chr6 26388372 26388372 G T rs144410497 BTN2A2 Nonsynonymous SNV A76S 0.003 0 0 4 4 0 0.01 0 0 0 0 0 0.001 47980 chr17 79639684 79639684 G A rs61742298 CCDC137 Nonsynonymous SNV G274R 0.034 0.034 0.017 14 40 13 0.036 5 0 0 0 2 7.332 47981 chr5 79029749 79029749 A G rs1428225 CMYA5 Nonsynonymous SNV I1721V 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 0.001 47982 chr6 139591750 139591750 C T rs143937098 TXLNB Nonsynonymous SNV R177H 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 35 47983 chr17 79650828 79650828 T G rs8066889 ARL16 Nonsynonymous SNV S10R 0.226 0.237 0.262 86 265 91 0.221 77 31 11 10 9 14.03 47984 chr5 79030212 79030212 C T rs16877147 CMYA5 Nonsynonymous SNV A1875V 0.049 0.049 0.027 28 57 19 0.072 8 1 0 0 2 3.262 47985 chr17 79661874 79661874 C T rs35078912 HGS Synonymous SNV I322I 0.034 0.034 0.02 14 40 13 0.036 6 0 0 0 2 21.3 47986 chr6 112537599 112537599 G A rs727503114 LAMA4 Synonymous SNV N89N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.76 47987 chr5 79030338 79030338 A G rs16877150 CMYA5 Nonsynonymous SNV D1917G 0.049 0.049 0.027 28 57 19 0.072 8 1 0 0 2 0.005 47988 chr17 79663931 79663931 T C rs8070488 HGS Synonymous SNV P595P 0.221 0.237 0.255 85 259 91 0.218 75 31 11 9 9 0.013 47989 chr6 26408145 26408145 T A rs144114619 BTN3A1 Nonsynonymous SNV L175H 0.021 0.029 0.014 13 25 11 0.033 4 0 0 0 0 Likely benign 22.9 47990 chr10 73406348 73406348 G A rs62622410 CDH23 Nonsynonymous SNV V475M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 24.8 47991 chr5 78379064 78379064 G A rs61058144 BHMT2 Synonymous SNV L152L 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 6.431 47992 chr5 79030346 79030346 A G rs16877151 CMYA5 Nonsynonymous SNV S1920G 0.093 0.081 0.058 44 109 31 0.113 17 5 2 0 4 0.003 47993 chr6 142737048 142737048 C T rs186655757 ADGRG6 Nonsynonymous SNV L901F 0.013 0.005 0.02 5 15 2 0.013 6 0 0 0 0 Benign 27.7 47994 chr6 150464356 150464356 A G rs2297672 PPP1R14C Nonsynonymous SNV T10A 0.269 0.18 0.221 87 316 69 0.223 65 109 19 22 19 0.109 47995 chr6 26413744 26413744 C A rs4712990 BTN3A1 Nonsynonymous SNV P404T 0.105 0.089 0.126 50 123 34 0.128 37 8 0 0 3 14.55 47996 chr5 79031372 79031372 G C rs6859595 CMYA5 Nonsynonymous SNV V2262L 0.093 0.081 0.058 43 109 31 0.11 17 5 2 0 4 0.002 47997 chr19 1371354 1371354 T C rs2668424 PWWP3A Nonsynonymous SNV Y687H 0.129 0.122 0.116 49 151 47 0.126 34 16 4 0 3 1.879 47998 chr10 73472565 73472565 T G rs77821631 CDH23 Nonsynonymous SNV L1122V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.163 47999 chr19 1397443 1397443 G A rs17851582 GAMT Nonsynonymous SNV T209M 0.066 0.065 0.041 27 77 25 0.069 12 2 1 0 0 Benign/Likely benign 10.24 48000 chr10 73490271 73490271 A G rs41281314 CDH23 Nonsynonymous SNV T1209A 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 Benign 23.5 48001 chr5 79032666 79032666 C T rs28362541 CMYA5 Nonsynonymous SNV T2693I 0.049 0.049 0.031 28 57 19 0.072 9 1 0 0 2 1.401 48002 chr5 79032711 79032711 G A rs28362542 CMYA5 Nonsynonymous SNV R2708H 0.049 0.049 0.031 28 57 19 0.072 9 1 0 0 2 7.686 48003 chr6 151204016 151204016 T C MTHFD1L Nonsynonymous SNV V179A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.6 48004 chr6 152651759 152651759 C G rs3734365 SYNE1 Synonymous SNV L4616L 0.055 0.023 0.082 21 65 9 0.054 24 1 0 0 0 Benign 3.643 48005 chr5 78964729 78964729 T G rs10514164 TENT2 Synonymous SNV P319P 0.014 0.008 0.024 3 17 3 0.008 7 0 0 0 0 10.97 48006 chr5 79033306 79033306 A C rs2278239 CMYA5 Nonsynonymous SNV K2906N 0.093 0.081 0.058 43 109 31 0.11 17 5 2 0 4 7.612 48007 chr5 79034662 79034662 C G rs3828611 CMYA5 Nonsynonymous SNV H3358Q 0.049 0.049 0.031 28 57 19 0.072 9 1 0 0 2 0.001 48008 chr6 143749762 143749762 T C rs9321905 ADAT2 Synonymous SNV Q126Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.468 48009 chr10 73539199 73539199 C T rs564555435 CDH23 Nonsynonymous SNV P1788L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 24.1 48010 chr5 79024915 79024915 G C rs16877111 CMYA5 Synonymous SNV R109R 0.044 0.031 0.031 16 52 12 0.041 9 3 0 0 0 0.196 48011 chr5 58334716 58334716 C T rs369034280 PDE4D Synonymous SNV R73R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 15.32 48012 chr6 152671865 152671865 T G rs13210127 SYNE1 Nonsynonymous SNV K3859T 0.026 0.013 0.014 10 30 5 0.026 4 0 0 0 0 Benign 17.71 48013 chr6 116875504 116875504 A G rs12660180 CALHM4 Nonsynonymous SNV Y183C 0.037 0.023 0.024 11 44 9 0.028 7 2 2 0 0 23 48014 chr6 2766465 2766465 T C rs8333 WRNIP1 Synonymous SNV S203S 0.458 0.456 0.534 193 538 175 0.495 157 130 43 52 49 0.03 48015 chr6 2784571 2784571 G A rs160703 WRNIP1 Synonymous SNV P552P 0.204 0.201 0.187 85 239 77 0.218 55 29 13 8 16 14.09 48016 chr6 152763258 152763258 T C rs138705766 SYNE1 Synonymous SNV T1327T 0.025 0.018 0.027 7 29 7 0.018 8 0 0 0 0 Benign/Likely benign 0.166 48017 chr10 75532762 75532762 G A FUT11 Nonsynonymous SNV R224Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 48018 chr5 65892760 65892760 C G MAST4 Nonsynonymous SNV L93V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.356 48019 chr6 153043035 153043035 G A rs17710008 MYCT1 Nonsynonymous SNV G71S 0.129 0.076 0.122 32 151 29 0.082 36 8 1 2 0 23.6 48020 chr17 80109577 80109577 G A rs779485131 CCDC57 Nonsynonymous SNV R280C 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 23.1 48021 chr6 117150057 117150057 A C rs41291914 GPRC6A Synonymous SNV G40G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.119 48022 chr6 117591755 117591755 T C rs13194610 VGLL2 Synonymous SNV N147N 0.109 0.081 0.122 55 128 31 0.141 36 6 0 1 2 9.891 48023 chr6 117622184 117622184 G C rs619203 ROS1 Nonsynonymous SNV S2229C 0.233 0.227 0.18 96 273 87 0.246 53 32 11 7 5 2.711 48024 chr6 147006909 147006909 C T rs553511218 ADGB Nonsynonymous SNV A419V 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 48025 chr6 117622188 117622188 T G rs529156 ROS1 Nonsynonymous SNV K2228Q 0.233 0.227 0.184 95 274 87 0.244 54 32 11 7 5 13.33 48026 chr5 79039740 79039740 A G rs199850208 CMYA5 Nonsynonymous SNV I3577V 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Likely benign 12.99 48027 chr6 117622233 117622233 C T rs529038 ROS1 Nonsynonymous SNV D2213N 0.229 0.227 0.19 95 269 87 0.244 56 32 11 7 5 23 48028 chr6 33643558 33643558 G A rs2229637 ITPR3 Synonymous SNV P1069P 0.359 0.336 0.32 142 421 129 0.364 94 75 24 18 25 1.984 48029 chr6 117710661 117710661 T C rs28639589 ROS1 Nonsynonymous SNV I537M 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 21.5 48030 chr6 152650903 152650903 G A rs35085679 SYNE1 Synonymous SNV L4902L 0.039 0.031 0.003 14 46 12 0.036 1 0 0 0 0 Benign/Likely benign 12.34 48031 chr6 117725448 117725448 T G rs1998206 ROS1 Nonsynonymous SNV T145P 0.089 0.096 0.102 38 105 37 0.097 30 6 3 1 1 22.5 48032 chr6 15496930 15496930 C T rs150448457 JARID2 Nonsynonymous SNV R320C 0.028 0.023 0.037 9 33 9 0.023 11 0 2 0 0 Benign 29.2 48033 chr6 152652599 152652599 G A rs10499268 SYNE1 Synonymous SNV D4336D 0.044 0.034 0.003 14 52 13 0.036 1 0 0 0 0 Benign/Likely benign 3.598 48034 chr6 149903597 149903597 A G rs1137086 GINM1 Nonsynonymous SNV K247E 0.043 0.031 0.024 17 51 12 0.044 7 0 0 0 1 9.802 48035 chr6 152658141 152658141 C A rs28385621 SYNE1 Nonsynonymous SNV K4050N 0.082 0.055 0.044 32 96 21 0.082 13 4 0 0 0 Benign 22.2 48036 chr6 155145436 155145436 T C rs41292928 SCAF8 Synonymous SNV V665V 0.015 0.013 0.003 1 18 5 0.003 1 0 0 0 0 3.298 48037 chr6 155154422 155154422 T C rs570910990 SCAF8 Nonsynonymous SNV Y1237H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 48038 chr5 86564564 86564564 C T rs111840875 RASA1 Nonsynonymous SNV A99V 0.046 0.042 0.014 19 54 16 0.049 4 3 0 0 1 Benign/Likely benign 11.81 48039 chr10 7780646 7780646 C G rs3740217 ITIH2 Nonsynonymous SNV P674A 0.078 0.096 0.095 34 92 37 0.087 28 5 1 1 1 3.622 48040 chr6 119669877 119669877 C T rs3734385 MAN1A1 Synonymous SNV E118E 0.062 0.07 0.075 34 73 27 0.087 22 3 0 2 2 14.19 48041 chr6 153043062 153043062 C A MYCT1 Nonsynonymous SNV H80N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 48042 chr6 158294184 158294184 G C rs9355424 SNX9 Synonymous SNV G50G 0.028 0.049 0.027 17 33 19 0.044 8 1 2 0 1 7.001 48043 chr5 79949842 79949842 T A DHFR Nonsynonymous SNV T41S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.042 48044 chr6 158330765 158330765 G A rs3211067 SNX9 Synonymous SNV R258R 0.204 0.24 0.211 92 240 92 0.236 62 29 14 7 14 9.443 48045 chr6 158502527 158502527 C T rs1744177 SYNJ2 Synonymous SNV D713D 0.077 0.089 0.075 30 90 34 0.077 22 1 2 2 1 16.12 48046 chr10 81838613 81838613 T C rs140099300 TMEM254-AS1 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 6.952 48047 chr10 81838749 81838749 C T rs185539955 TMEM254-AS1 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 8.203 48048 chr10 81838864 81838864 A G rs61748824 TMEM254 Nonsynonymous SNV N28S 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 5.862 48049 chr6 155450948 155450948 G A rs111660228 TIAM2 Synonymous SNV L197L 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 2.03 48050 chr6 158919775 158919775 T C rs146628860 TULP4 Nonsynonymous SNV S649P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 27.6 48051 chr5 90041510 90041510 A G rs17624033 ADGRV1 Synonymous SNV Q3624Q 0.044 0.047 0.071 14 52 18 0.036 21 1 0 0 0 Benign 4.916 48052 chr6 155458682 155458682 G A rs17085981 TIAM2 Synonymous SNV Q522Q 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 7.142 48053 chr6 155469336 155469336 G C rs146947115 TIAM2 Synonymous SNV T632T 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 5.965 48054 chr6 36298376 36298376 G A rs777896318 BNIP5 Nonsynonymous SNV S31L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 19.83 48055 chr19 3278045 3278045 G A rs763518058 CELF5 Synonymous SNV K180K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.95 48056 chr10 82330038 82330038 C T rs145622744 SH2D4B Nonsynonymous SNV R56W 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 28.2 48057 chr6 159650978 159650978 A G rs509648 FNDC1 Nonsynonymous SNV T438A 0.226 0.255 0.15 86 265 98 0.221 44 31 12 5 10 0.048 48058 chr6 157150379 157150379 A G rs147794292 ARID1B Nonsynonymous SNV M521V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.86 48059 chr18 2892017 2892017 A G EMILIN2 Nonsynonymous SNV N631S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 0.001 48060 chr6 36922669 36922669 G A rs753836658 PI16 Nonsynonymous SNV A45T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.546 48061 chr5 93964808 93964808 T C rs182007762 SLF1 Synonymous SNV N42N 0.016 0.021 0.003 5 19 8 0.013 1 0 0 0 0 Benign 1.684 48062 chr10 88277664 88277664 T C rs149203854 WAPL Nonsynonymous SNV I55V 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 1.329 48063 chr6 37186284 37186284 G T rs764102829 TMEM217 Nonsynonymous SNV L175I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.06 48064 chr5 94994467 94994467 T C rs34297786 SPATA9 Nonsynonymous SNV K209E 0.059 0.042 0.071 17 69 16 0.044 21 3 0 1 0 9.617 48065 chr6 159670100 159670100 A G rs7763726 FNDC1 Nonsynonymous SNV T1574A 0.07 0.07 0.027 23 82 27 0.059 8 4 0 0 0 8.1 48066 chr6 38757615 38757615 G A rs45529837 DNAH8 Nonsynonymous SNV V657M 0.044 0.039 0.061 18 52 15 0.046 18 2 0 1 1 Benign 25 48067 chr6 152473181 152473181 T C rs910415 SYNE1 Synonymous SNV A230A 0.05 0.063 0.071 18 59 24 0.046 21 2 0 0 0 Benign/Likely benign 0.082 48068 chr10 90577618 90577618 G C rs759595144 LIPM Nonsynonymous SNV G323R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 48069 chr6 159692405 159692405 C T rs3814448 FNDC1 Synonymous SNV I1872I 0.074 0.076 0.027 26 87 29 0.067 8 6 0 0 0 13.15 48070 chr10 90665355 90665355 G A rs17114071 STAMBPL1 Synonymous SNV A62A 0.092 0.083 0.129 27 108 32 0.069 38 9 0 3 0 8.554 48071 chr10 90767482 90767482 A G rs2229521 FAS Synonymous SNV T74T 0.02 0.026 0.051 11 23 10 0.028 15 1 0 1 0 Benign 0.01 48072 chr6 39034072 39034072 G A rs6923761 GLP1R Nonsynonymous SNV G168S 0.293 0.32 0.276 111 344 123 0.285 81 47 18 10 14 8.216 48073 chr5 76331449 76331449 G A rs34203073 AGGF1 Nonsynonymous SNV E133K 0.012 0.021 0.031 3 14 8 0.008 9 1 0 0 0 Likely benign 2.875 48074 chr6 132047245 132047245 G A rs9321309 ENPP3 Nonsynonymous SNV V620M 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 2.007 48075 chr19 4168437 4168437 C A rs74612303 CREB3L3 Synonymous SNV I267I 0.015 0.005 0.014 10 18 2 0.026 4 1 0 0 0 10.8 48076 chr6 132649202 132649202 G A rs374751992 MOXD1 Nonsynonymous SNV P299L 0.003 0 0 0 3 0 0 0 0 0 0 0 28.5 48077 chr6 13281251 13281251 C T rs7769621 LOC100130357 0.049 0.063 0.024 18 57 24 0.046 7 1 0 0 0 5.346 48078 chr5 77425099 77425099 G A rs17192146 AP3B1 Synonymous SNV L512L 0.047 0.047 0.088 17 55 18 0.044 26 2 0 2 0 Benign/Likely benign 7.752 48079 chr10 93237967 93237967 G A rs369284664 HECTD2 Nonsynonymous SNV V204I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.722 48080 chr10 93668209 93668209 C G rs751166125 FGFBP3 Nonsynonymous SNV R173P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 48081 chr6 135300388 135300388 T G rs199611639 HBS1L Nonsynonymous SNV E497A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.5 48082 chr18 9887877 9887877 G A rs34362649 TXNDC2 Synonymous SNV G467G 0.072 0.07 0.048 28 84 27 0.072 14 4 1 1 2 2.362 48083 chr5 94989878 94989878 A C rs74672963 RFESD Nonsynonymous SNV D38A 0.049 0.07 0.014 27 58 27 0.069 4 0 0 0 1 20.4 48084 chr6 136882715 136882715 C T rs41288957 MAP3K5 Nonsynonymous SNV D1315N 0.005 0.005 0.01 5 6 2 0.013 3 0 0 0 0 23.2 48085 chr6 105198267 105198267 A G rs7752614 HACE1 Synonymous SNV F667F 0.132 0.143 0.129 57 155 55 0.146 38 13 5 1 5 9.671 48086 chr6 160543148 160543148 C T rs12208357 SLC22A1 Nonsynonymous SNV R61C 0.071 0.068 0.061 29 83 26 0.074 18 3 1 0 1 27.6 48087 chr6 106552892 106552892 G C rs17066588 PRDM1 Nonsynonymous SNV R152P 0.01 0.013 0.014 4 12 5 0.01 4 0 0 0 0 Benign 5.688 48088 chr6 137113248 137113248 G C rs114489274 MAP3K5 Nonsynonymous SNV F16L 0.032 0.039 0.051 11 37 15 0.028 15 0 0 0 0 0.002 48089 chr5 78752802 78752802 T C rs35944172 HOMER1 Synonymous SNV Q15Q 0.052 0.047 0.034 21 61 18 0.054 10 1 0 0 0 0.706 48090 chr6 166572005 166572005 T C rs3816300 TBXT Nonsynonymous SNV N311S 0.111 0.091 0.129 46 130 35 0.118 38 4 2 0 7 0.001 48091 chr6 137482840 137482840 A G rs28385692 IL22RA2 Nonsynonymous SNV L16P 0.044 0.044 0.031 22 52 17 0.056 9 0 0 0 0 14.88 48092 chr10 96748752 96748752 G A rs376114904 CYP2C9 Synonymous SNV P480P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.505 48093 chr6 138734029 138734029 A C rs2076279 HEBP2 Nonsynonymous SNV D105A 0.038 0.034 0.065 9 45 13 0.023 19 2 0 2 0 4.817 48094 chr6 138745299 138745299 G A rs9495082 NHSL1 Synonymous SNV P1584P 0.143 0.115 0.143 45 168 44 0.115 42 13 3 3 1 8.963 48095 chr6 42627430 42627430 C T rs6916713 UBR2 Synonymous SNV G1093G 0.297 0.273 0.31 107 349 105 0.274 91 40 13 14 13 12.5 48096 chr6 166904218 166904218 G A rs34259662 RPS6KA2 Synonymous SNV L155L 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 11.63 48097 chr6 166912062 166912062 C T rs2230732 RPS6KA2 Synonymous SNV A129A 0.053 0.034 0.088 15 62 13 0.038 26 1 0 2 0 16.77 48098 chr5 79033391 79033391 G A rs2278240 CMYA5 Nonsynonymous SNV G2935R 0.041 0.044 0.075 17 48 17 0.044 22 0 0 0 0 27 48099 chr10 97373754 97373754 G A rs11541780 ALDH18A1 Synonymous SNV S378S 0.039 0.021 0.058 11 46 8 0.028 17 2 0 1 1 Benign 12.98 48100 chr6 108230164 108230164 A C rs778645054 SEC63 Nonsynonymous SNV F234V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 48101 chr10 97515588 97515588 T C rs3176892 ENTPD1-AS1 0.042 0.021 0.054 11 49 8 0.028 16 2 0 1 1 4.009 48102 chr6 161162406 161162406 T C rs4252170 PLG Synonymous SNV A694A 0.063 0.073 0.085 24 74 28 0.062 25 3 1 1 0 4.312 48103 chr10 97516279 97516279 T - rs398075431 ENTPD1-AS1 0 0 0.408 0 0 0 0 120 0 0 29 0 48104 chr6 139563885 139563885 G A rs61753892 TXLNB Synonymous SNV S611S 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 8.611 48105 chr6 161519354 161519356 CTG - MAP3K4 A1195del 0.016 0.016 0 7 19 6 0.018 0 0 0 0 0 48106 chr6 139563968 139563968 A G rs61741440 TXLNB Synonymous SNV L584L 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 12.8 48107 chr6 161557662 161557662 G A rs3734462 AGPAT4 Synonymous SNV S349S 0.108 0.109 0.126 35 127 42 0.09 37 7 2 3 0 13 48108 chr6 139563972 139563972 G C rs61741439 TXLNB Synonymous SNV A582A 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 7.462 48109 chr10 98109535 98109535 C A rs35821065 OPALIN Nonsynonymous SNV A18S 0.005 0.008 0.01 4 6 3 0.01 3 0 0 0 0 Benign 29.3 48110 chr6 139564117 139564117 G C rs61754935 TXLNB Nonsynonymous SNV A534G 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 0.28 48111 chr6 168376866 168376866 T C rs2015545 HGC6.3 Nonsynonymous SNV N156S 0.085 0.078 0.01 32 100 30 0.082 3 12 2 1 2 1.308 48112 chr19 4511935 4511935 T C rs113821070 PLIN4 Synonymous SNV K679K 0.007 0.005 0.017 0 8 2 0 5 0 0 0 0 0.003 48113 chr6 16327864 16327864 - TGCTGC ATXN1 Q225_H226insQQ 0.024 0.023 0.003 12 28 9 0.031 1 1 0 0 0 48114 chr6 159239096 159239096 A C EZR-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 8.18 48115 chr6 168376869 168376869 C T rs201374833 HGC6.3 Nonsynonymous SNV G155E 0.073 0.076 0.003 30 86 29 0.077 1 8 2 0 2 5.853 48116 chr6 43112216 43112218 CAG - PTK7 A631del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 48117 chr6 10964015 10964015 G A rs115084361 SYCP2L Synonymous SNV R805R 0.039 0.026 0.024 13 46 10 0.033 7 0 0 0 0 2.801 48118 chr10 98778384 98778384 C T rs768016076 SLIT1 Synonymous SNV G976G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.252 48119 chr6 168708793 168708793 C G rs10945500 DACT2 Synonymous SNV R378R 0.227 0.198 0.265 106 266 76 0.272 78 28 8 10 14 5.25 48120 chr18 20735914 20735914 C T rs199865429 CABLES1 Synonymous SNV P16P 0.009 0.018 0 4 10 7 0.01 0 0 0 0 0 11.83 48121 chr19 4516668 4516668 C T rs527449810 PLIN4 Synonymous SNV T73T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.344 48122 chr6 166743003 166743003 C T rs188147900 SFT2D1 Synonymous SNV A75A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.13 48123 chr6 159654829 159654829 G A rs638551 FNDC1 Synonymous SNV A1095A 0.101 0.122 0.082 35 119 47 0.09 24 6 5 1 2 12.35 48124 chr6 169632219 169632219 G A rs35935937 THBS2 Synonymous SNV G669G 0.162 0.156 0.15 61 190 60 0.156 44 19 4 2 6 10.44 48125 chr6 109787476 109787476 C T rs61731736 ZBTB24 Nonsynonymous SNV D558N 0.017 0.016 0.01 11 20 6 0.028 3 0 0 0 1 Benign 22.7 48126 chr6 44084319 44084319 G A rs898562030 MRPL14 Synonymous SNV P10P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.807 48127 chr6 159654913 159654913 C T rs653521 FNDC1 Synonymous SNV G1123G 0.103 0.128 0.078 36 121 49 0.092 23 6 6 1 2 14.14 48128 chr6 169637763 169637763 G C rs9766671 THBS2 Synonymous SNV S419S 0.233 0.182 0.17 86 274 70 0.221 50 32 6 2 12 7.408 48129 chr6 44185264 44185264 T A rs79241016 MYMX Nonsynonymous SNV L19Q 0.171 0.154 0.18 64 201 59 0.164 53 16 5 7 9 11.63 48130 chr6 169637847 169637847 G A rs35631991 THBS2 Synonymous SNV T391T 0.061 0.034 0.017 26 72 13 0.067 5 2 0 0 1 3.019 48131 chr6 44198362 44198362 T C rs45573936 SLC29A1 Nonsynonymous SNV I242T 0.02 0.018 0.007 5 23 7 0.013 2 0 0 0 0 23.3 48132 chr6 100010720 100010720 T C rs147364472 CCNC Nonsynonymous SNV N46S 0.005 0.01 0 11 6 4 0.028 0 0 0 0 0 18.59 48133 chr6 170036466 170036466 C A rs111656694 WDR27 0.012 0.013 0 6 14 5 0.015 0 0 0 0 0 22.8 48134 chr6 170038674 170038674 T C rs115828649 WDR27 Synonymous SNV R419R 0.012 0.013 0 6 14 5 0.015 0 0 0 0 0 0.079 48135 chr6 44223010 44223010 G T rs1875324 SLC35B2 Synonymous SNV T111T 0.168 0.146 0.18 50 197 56 0.128 53 18 5 5 4 5.123 48136 chr6 44243433 44243433 G A rs370858094 TMEM151B Synonymous SNV P290P 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 11.37 48137 chr6 146625877 146625877 A T GRM1 Nonsynonymous SNV T361S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.43 48138 chr6 170059234 170059234 C G rs35895089 WDR27 Nonsynonymous SNV V232L 0.011 0.01 0 2 13 4 0.005 0 0 0 0 0 0.001 48139 chr6 102503401 102503401 T C rs139415092 GRIK2 Synonymous SNV F836F 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Likely benign 1.086 48140 chr6 159672419 159672419 G C rs551392 FNDC1 Synonymous SNV L1640L 0.101 0.12 0.092 41 119 46 0.105 27 5 5 1 1 7.503 48141 chr6 167754710 167754710 A C rs41266331 TTLL2 Nonsynonymous SNV K441T 0.067 0.089 0.082 32 79 34 0.082 24 2 4 2 2 0.023 48142 chr6 159672542 159672542 C T rs550443 FNDC1 Synonymous SNV A1681A 0.101 0.12 0.092 42 119 46 0.108 27 5 5 1 1 13.88 48143 chr6 168315978 168315978 G C rs3213590 AFDN Synonymous SNV V787V 0.083 0.076 0.071 34 97 29 0.087 21 5 2 1 2 1.602 48144 chr6 168317816 168317816 A C rs6906754 AFDN Synonymous SNV P848P 0.083 0.076 0.071 33 97 29 0.085 21 5 2 1 2 5.804 48145 chr6 168376953 168376953 A C rs2516607 HGC6.3 Nonsynonymous SNV V127G 0.111 0.115 0.044 41 130 44 0.105 13 30 8 5 8 1.098 48146 chr6 46604145 46604145 G C rs147866724 CYP39A1 Nonsynonymous SNV S66C 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 25 48147 chr19 5696347 5696347 C T rs779839529 LONP1 Synonymous SNV P407P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 48148 chr6 46658905 46658905 C G rs9381472 TDRD6 Nonsynonymous SNV Q1014E 0.365 0.349 0.344 160 428 134 0.41 101 77 23 18 31 8.933 48149 chr6 168842113 168842113 T G rs73270928 SMOC2 Synonymous SNV A21A 0.107 0.086 0.133 39 126 33 0.1 39 15 3 3 4 10.83 48150 chr6 46660061 46660061 A G rs140133370 TDRD6 Nonsynonymous SNV N1399S 0.007 0.008 0 0 8 3 0 0 0 0 0 0 0.001 48151 chr6 170033086 170033086 G A rs9396946 WDR27 Nonsynonymous SNV A536V 0.049 0.057 0.048 11 58 22 0.028 14 2 0 1 0 13.15 48152 chr6 170871049 170871049 - CAA rs760309917 TBP Q75_A76insQ 0.22 0.227 0.078 96 258 87 0.246 23 13 6 2 5 48153 chr6 170038696 170038696 G A rs41265375 WDR27 Nonsynonymous SNV A412V 0.048 0.052 0.037 11 56 20 0.028 11 2 0 1 0 13.36 48154 chr6 149783095 149783095 T C rs61997220 ZC3H12D Nonsynonymous SNV K106R 0.031 0.039 0.048 27 36 15 0.069 14 1 0 0 0 24.4 48155 chr6 112462037 112462037 C T rs148096716 LAMA4 Synonymous SNV S967S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.5 48156 chr6 17633033 17633033 G C rs61744976 NUP153 Nonsynonymous SNV S794C 0.116 0.13 0.146 45 136 50 0.115 43 12 11 5 3 21.5 48157 chr6 149903669 149903669 G A rs577606517 GINM1 Nonsynonymous SNV V271M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.88 48158 chr19 5867053 5867053 A G rs61730513 FUT5 Synonymous SNV A228A 0.013 0.013 0.017 2 15 5 0.005 5 0 1 0 0 0.011 48159 chr6 160961137 160961137 T C rs3798220 LPA Nonsynonymous SNV I1891M 0.012 0.021 0.003 3 14 8 0.008 1 1 0 0 0 16.65 48160 chr6 170103050 170103050 A G rs41265393 C6orf120 Synonymous SNV E165E 0.048 0.049 0.037 11 56 19 0.028 11 2 0 1 0 5.861 48161 chr6 46976924 46976924 G A rs45511696 ADGRF1 Synonymous SNV V749V 0.06 0.073 0.048 18 70 28 0.046 14 4 2 1 0 4.301 48162 chr6 46977475 46977475 A G rs73480725 ADGRF1 Synonymous SNV L566L 0.038 0.055 0.051 17 45 21 0.044 15 0 0 1 0 0.717 48163 chr6 170871013 170871013 - CAG rs113202486 TBP Q75_A76insQ 0.08 0.089 0.031 40 94 34 0.103 9 5 2 0 1 48164 chr6 46977783 46977783 C T rs45598235 ADGRF1 Nonsynonymous SNV R463H 0.06 0.073 0.048 18 70 28 0.046 14 4 2 1 0 0.465 48165 chr6 161006172 161006172 T G rs41272110 LPA Nonsynonymous SNV T1399P 0.147 0.115 0.092 49 173 44 0.126 27 9 2 1 2 18.9 48166 chr19 5867459 5867459 C T rs61731563 FUT5 Nonsynonymous SNV R93H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.91 48167 chr6 108214694 108214694 C T rs17854547 SEC63 Nonsynonymous SNV V556I 0.047 0.029 0.007 12 55 11 0.031 2 2 0 0 0 Likely benign 19.85 48168 chr6 170871046 170871046 - CAGCAG rs775224229 TBP Q75_A76insQQ 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 48169 chr6 4735035 4735035 T C rs13196069 CDYL Nonsynonymous SNV V48A 0.309 0.299 0.299 127 363 115 0.326 88 49 17 13 22 0.001 48170 chr19 5867566 5867566 C T rs59903004 FUT5 Synonymous SNV G57G 0.008 0.003 0.014 0 9 1 0 4 0 0 1 0 4.825 48171 chr5 90025579 90025579 T C rs756294827 ADGRV1 Nonsynonymous SNV I3516T 0 0.005 0 0 0 2 0 0 0 0 0 0 24.2 48172 chr6 4735071 4735071 C G rs28360500 CDYL Nonsynonymous SNV A60G 0.307 0.299 0.299 127 361 115 0.326 88 49 17 13 22 0.004 48173 chr6 18122506 18122506 G A rs10949483 NHLRC1 Nonsynonymous SNV P111L 0.428 0.383 0.32 150 503 147 0.385 94 108 33 14 31 Benign 18.92 48174 chr19 6187731 6187731 C G rs35609668 ACSBG2 Nonsynonymous SNV P601R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 3.19 48175 chr6 116720514 116720514 C T rs35548455 DSE Nonsynonymous SNV P34L 0.057 0.06 0.085 16 67 23 0.041 25 1 1 0 1 Benign 28.5 48176 chr11 1016978 1016978 T G rs76461263 MUC6 Nonsynonymous SNV K1941N 0.072 0.076 0.112 17 85 29 0.044 33 0 0 0 0 0.001 48177 chr19 6213104 6213104 G A rs2233198 MLLT1 Synonymous SNV D543D 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 11.1 48178 chr19 6312290 6312290 T C rs72981971 ACER1 Nonsynonymous SNV M74V 0.086 0.057 0.044 37 101 22 0.095 13 6 1 0 2 1.806 48179 chr6 18237661 18237661 C T rs1013062 DEK Synonymous SNV K249K 0.161 0.159 0.088 54 189 61 0.138 26 17 2 4 2 16.25 48180 chr6 18264210 18264210 G A rs11544757 DEK Synonymous SNV A3A 0.161 0.159 0.173 54 189 61 0.138 51 17 2 6 2 7.639 48181 chr6 16145473 16145473 C T rs1060901 MYLIP Synonymous SNV C391C 0.062 0.07 0.048 28 73 27 0.072 14 2 1 0 1 14.84 48182 chr19 6333533 6333533 G A rs78590644 ACER1 Synonymous SNV S10S 0.034 0.042 0.034 10 40 16 0.026 10 0 0 0 0 12.38 48183 chr6 18399837 18399837 G A rs61748576 RNF144B Synonymous SNV P24P 0.024 0.005 0.034 9 28 2 0.023 10 0 0 1 0 5.924 48184 chr18 29625685 29625685 G A rs61749945 RNF125 Nonsynonymous SNV R165Q 0.077 0.083 0.071 26 90 32 0.067 21 3 0 1 1 18.04 48185 chr19 6380469 6380469 C T rs17625356 GTF2F1 Synonymous SNV V459V 0.03 0.036 0.027 10 35 14 0.026 8 0 0 0 0 14.99 48186 chr19 6427481 6427481 G T rs191002996 SLC25A41 Nonsynonymous SNV T219K 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 24.1 48187 chr6 22570064 22570064 C T rs2076506 HDGFL1 Nonsynonymous SNV T87M 0.141 0.138 0.112 42 166 53 0.108 33 11 3 1 4 15.01 48188 chr6 116951678 116951678 A C rs9488991 RSPH4A Nonsynonymous SNV N627H 0.046 0.021 0.054 18 54 8 0.046 16 3 0 0 1 Benign 26.5 48189 chr6 162622197 162622197 C T rs1801474 PRKN Nonsynonymous SNV S167N 0.02 0.013 0.014 6 24 5 0.015 4 0 0 0 0 Benign 14.32 48190 chr19 6430106 6430106 C T rs34488963 SLC25A41 Nonsynonymous SNV G144S 0.074 0.063 0.037 17 87 24 0.044 11 4 0 0 0 26.8 48191 chr6 20212410 20212410 T C rs61737148 MBOAT1 Nonsynonymous SNV Y19C 0.03 0.029 0.024 11 35 11 0.028 7 1 0 1 0 24.7 48192 chr19 6433629 6433629 G C rs117420388 SLC25A41 Nonsynonymous SNV L26V 0.025 0.026 0.02 7 29 10 0.018 6 0 0 0 0 1.69 48193 chr6 24146086 24146086 C T rs141247589 NRSN1 Nonsynonymous SNV P167L 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 24.2 48194 chr5 94749787 94749787 C T rs35391433 FAM81B Stop gain Q144X 0.05 0.063 0.058 25 59 24 0.064 17 2 1 1 1 37 48195 chr19 6454651 6454651 T C rs8103745 SLC25A23 Synonymous SNV K187K 0.037 0.039 0.037 8 44 15 0.021 11 1 0 1 0 0.757 48196 chr6 24205236 24205236 G A rs9467075 DCDC2 Synonymous SNV V339V 0.14 0.19 0.16 65 164 73 0.167 47 7 7 5 4 Benign 11.06 48197 chr6 109762600 109762600 A C rs749621 SMPD2 Synonymous SNV R31R 0.043 0.031 0.058 19 51 12 0.049 17 1 0 2 0 8.139 48198 chr6 24551664 24551664 T C rs807534 KIAA0319 Nonsynonymous SNV Y424C 0.099 0.107 0.102 29 116 41 0.074 30 3 2 0 0 23.6 48199 chr19 6681991 6681991 G A rs7951 C3 Synonymous SNV A1437A 0.069 0.049 0.071 23 81 19 0.059 21 6 0 2 2 Benign 6.138 48200 chr6 109775366 109775366 C T rs4946977 MICAL1 Nonsynonymous SNV A12T 0.045 0.031 0.061 20 53 12 0.051 18 2 0 2 0 12.14 48201 chr6 24551729 24551729 T C rs807535 KIAA0319 Nonsynonymous SNV K961R 0.099 0.107 0.105 29 116 41 0.074 31 3 2 0 0 0.044 48202 chr6 117724379 117724379 C T rs2243380 ROS1 Nonsynonymous SNV R167Q 0.109 0.128 0.099 50 128 49 0.128 29 4 4 1 1 28.3 48203 chr19 6731213 6731213 G A rs60463209 GPR108 Synonymous SNV Y477Y 0.002 0 0.003 2 2 0 0.005 1 0 0 0 1 0.306 48204 chr6 49518599 49518599 T C rs45551532 C6orf141 Nonsynonymous SNV F32L 0.026 0.023 0.027 8 31 9 0.021 8 1 0 0 1 8.078 48205 chr19 6731267 6731267 G A rs57717779 GPR108 Synonymous SNV R459R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 1 1.442 48206 chr6 109900765 109900765 C A rs1998813 AK9 Nonsynonymous SNV V727L 0.039 0.021 0.034 18 46 8 0.046 10 1 0 0 0 0.843 48207 chr19 6732125 6732125 C T rs73922480 GPR108 Synonymous SNV E389E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 9.439 48208 chr6 117842698 117842698 A G rs9285421 DCBLD1 Synonymous SNV T157T 0.048 0.057 0.041 12 56 22 0.031 12 5 1 0 0 4.811 48209 chr6 109931580 109931580 T C rs56107923 AK9 Synonymous SNV E610E 0.039 0.021 0.034 18 46 8 0.046 10 1 0 0 0 3.282 48210 chr6 24797640 24797640 A G rs115510384 ARMH2 X231Q 0.019 0.013 0.051 7 22 5 0.018 15 0 0 0 0 11.39 48211 chr6 49519169 49519169 T C rs41273692 C6orf141 Nonsynonymous SNV S222P 0.026 0.023 0.031 8 31 9 0.021 9 1 0 0 1 0.578 48212 chr6 118791804 118791804 T C rs7743702 CEP85L Nonsynonymous SNV M640V 0.013 0.023 0 3 15 9 0.008 0 0 0 0 0 12.85 48213 chr6 49663567 49663567 A G rs36069724 CRISP2 Nonsynonymous SNV C196R 0.02 0.021 0.024 4 23 8 0.01 7 0 0 0 1 27.7 48214 chr6 118803091 118803091 C G rs9489410 CEP85L Nonsynonymous SNV Q532H 0.013 0.023 0 3 15 9 0.008 0 0 0 0 0 23.1 48215 chr6 25661856 25661856 G A rs376721140 SCGN Nonsynonymous SNV R77H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.746 48216 chr6 118812811 118812813 TGT - rs71866282 CEP85L Q491del 0.014 0.023 0.003 3 16 9 0.008 1 0 0 0 0 48217 chr6 50683009 50683009 T C rs78648104 TFAP2D Nonsynonymous SNV F74L 0.108 0.117 0.139 46 127 45 0.118 41 10 4 1 1 12.97 48218 chr6 25773809 25773809 A G rs2275906 SLC17A4 Synonymous SNV L298L 0.148 0.167 0.163 64 174 64 0.164 48 9 3 3 4 8.454 48219 chr6 25726621 25726621 C T rs9467583 H2AC1 Synonymous SNV G45G 0.278 0.281 0.303 104 326 108 0.267 89 38 16 15 13 12.69 48220 chr6 118953755 118953755 T C rs9320659 CEP85L Synonymous SNV A31A 0.014 0.023 0.003 3 16 9 0.008 1 0 0 0 0 2.179 48221 chr19 6755155 6755155 T C rs12608960 SH2D3A Nonsynonymous SNV D223G 0.065 0.068 0.044 37 76 26 0.095 13 4 2 0 2 18.98 48222 chr19 6759631 6759631 C T rs62125124 SH2D3A Nonsynonymous SNV R157Q 0.032 0.034 0.017 18 37 13 0.046 5 2 1 0 0 4.909 48223 chr6 51524403 51524403 G A rs34460237 PKHD1 Synonymous SNV H3507H 0.064 0.07 0.075 15 75 27 0.038 22 2 0 0 0 Benign 4.13 48224 chr6 26091179 26091179 C G rs1799945 HFE Nonsynonymous SNV H63D 0.152 0.167 0.197 61 178 64 0.156 58 10 3 5 4 Conflicting interpretations of pathogenicity, other 24.4 48225 chr6 25914853 25914853 G A rs34525648 SLC17A2 Nonsynonymous SNV S370L 0.096 0.068 0.085 27 113 26 0.069 25 4 0 2 0 24.8 48226 chr6 52144221 52144221 C T rs2307331 MCM3 Synonymous SNV Q190Q 0.089 0.096 0.065 28 104 37 0.072 19 4 3 1 2 12.44 48227 chr6 52334217 52334217 C T rs116134831 EFHC1 Synonymous SNV D408D 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 16.43 48228 chr6 25983777 25983777 C T rs17528178 TRIM38 Synonymous SNV A420A 0.015 0.01 0.027 5 18 4 0.013 8 0 0 0 0 14.1 48229 chr6 52697742 52697742 C G rs143520523 GSTA5 Nonsynonymous SNV S154T 0.015 0.016 0.01 12 18 6 0.031 3 0 0 0 0 24.3 48230 chr6 26017542 26017542 T C rs16891235 HIST1H1A Nonsynonymous SNV K140R 0.111 0.094 0.085 31 130 36 0.079 25 7 0 2 1 0.378 48231 chr6 101049748 101049748 C T rs61746540 ASCC3 Synonymous SNV K1747K 0.049 0.049 0.037 13 57 19 0.033 11 3 0 1 0 14.96 48232 chr6 26045905 26045905 G C rs3752417 HIST1H3C Synonymous SNV A89A 0.099 0.068 0.085 26 116 26 0.067 25 5 0 3 1 10.8 48233 chr18 43262408 43262408 G A rs41301139 SLC14A2 Nonsynonymous SNV R896H 0.008 0.003 0.003 9 9 1 0.023 1 0 0 0 0 33 48234 chr6 101100745 101100745 C T rs41288409 ASCC3 Synonymous SNV K948K 0.048 0.049 0.037 13 56 19 0.033 11 3 0 1 0 14.47 48235 chr19 7163065 7163065 G A rs2962 INSR Synonymous SNV F669F 0.072 0.055 0.088 22 85 21 0.056 26 1 1 1 0 Benign 11.96 48236 chr6 152712440 152712440 G T rs117480635 SYNE1 Nonsynonymous SNV T2666N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.05 48237 chr6 26157049 26157049 C T rs201297264 H1-4 Nonsynonymous SNV A144V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.34 48238 chr6 53883843 53883843 G A rs17625497 MLIP Nonsynonymous SNV R6H 0.309 0.294 0.259 103 363 113 0.264 76 57 17 12 16 17.81 48239 chr6 170144292 170144292 T C rs116980543 TCTE3 Nonsynonymous SNV I67V 0.012 0.008 0.014 2 14 3 0.005 4 0 0 0 0 9.508 48240 chr6 26370707 26370707 T C rs9379862 BTN3A2 Synonymous SNV D197D 0.192 0.203 0.259 84 225 78 0.215 76 17 7 14 10 0.007 48241 chr11 1017877 1017877 A G rs754011964 MUC6 Nonsynonymous SNV S1642P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 3.064 48242 chr6 26370748 26370748 G A rs35183513 BTN3A2 Nonsynonymous SNV R211K 0.115 0.115 0.133 55 135 44 0.141 39 6 2 3 5 7.749 48243 chr11 1017892 1017893 CA - rs766751467 MUC6 A1637Tfs*68 0.02 0.013 0.095 3 24 5 0.008 28 0 0 0 0 48244 chr6 26199903 26199903 C T rs34961555 H2BC7 Synonymous SNV S39S 0.012 0.005 0.02 5 14 2 0.013 6 0 0 0 0 11.58 48245 chr11 1017894 1017894 - GC rs754249101 MUC6 Frameshift insertion H1636Rfs*37 0.018 0.008 0.122 3 21 3 0.008 36 0 0 0 0 48246 chr11 1017898 1017898 T G rs781135233 MUC6 Nonsynonymous SNV T1635P 0.017 0.008 0.092 3 20 3 0.008 27 0 0 0 0 14.5 48247 chr6 153042923 153042923 A T rs34309848 MYCT1 Synonymous SNV V33V 0.01 0.01 0.007 5 12 4 0.013 2 0 0 0 0 0.844 48248 chr6 129612808 129612808 A G rs1027199 LAMA2 Synonymous SNV Q933Q 0.221 0.203 0.228 96 259 78 0.246 67 22 9 8 11 Benign 0.017 48249 chr6 15523448 15523448 G A rs17470454 DTNBP1 Nonsynonymous SNV P237S 0.027 0.023 0.017 6 32 9 0.015 5 0 0 0 1 Benign 19.87 48250 chr6 27799045 27799045 C T rs200488 H4C12 Synonymous SNV V87V 0.029 0.026 0.031 12 34 10 0.031 9 2 0 1 0 12.95 48251 chr18 46284611 46284611 C T rs61729840 CTIF Synonymous SNV T302T 0.042 0.036 0.034 33 49 14 0.085 10 3 0 1 1 11.91 48252 chr6 27833174 27833174 A G rs200981 H2AC16 Synonymous SNV K14K 0.044 0.042 0.061 20 52 16 0.051 18 2 0 1 1 0.008 48253 chr6 56327849 56327849 C T rs11758339 DST Nonsynonymous SNV A5042T 0.37 0.383 0.32 136 434 147 0.349 94 86 28 16 17 13.45 48254 chr6 27834730 27834730 G A rs889847868 H1-5 Nonsynonymous SNV P193L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 48255 chr6 108042072 108042072 T C SCML4 Nonsynonymous SNV K28E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.36 48256 chr6 27835131 27835131 G C rs200947 H1-5 Synonymous SNV G59G 0.027 0.023 0.027 9 32 9 0.023 8 2 0 1 0 0.223 48257 chr6 108197775 108197775 G A rs61733388 SEC63 Nonsynonymous SNV T676I 0.025 0.023 0 7 29 9 0.018 0 0 0 0 0 Benign 16.76 48258 chr6 170871055 170871067 GCAGCAGCAGCAG - rs771725566 TBP Q57Hfs*63 0.008 0.003 0.01 1 9 1 0.003 3 1 0 0 0 48259 chr6 27858421 27858421 A G rs200973 H3C12 Synonymous SNV R50R 0.064 0.042 0.078 21 75 16 0.054 23 3 0 2 1 6.251 48260 chr6 27278020 27278020 C A rs16897515 POM121L2 Nonsynonymous SNV G644C 0.147 0.172 0.153 58 173 66 0.149 45 11 7 3 5 24.3 48261 chr6 28213239 28213239 T C rs1150712 ZKSCAN4 Synonymous SNV P276P 0.027 0.021 0.017 11 32 8 0.028 5 0 0 1 0 0.204 48262 chr6 155581529 155581529 G A rs200471827 TFB1M Synonymous SNV D224D 0.004 0 0 0 5 0 0 0 0 0 0 0 10.95 48263 chr6 27925367 27925367 G A rs7767176 OR2B6 Nonsynonymous SNV V117I 0.113 0.115 0.109 53 133 44 0.136 32 5 0 2 1 8.501 48264 chr19 7698314 7698314 T C PCP2 Synonymous SNV E10E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 48265 chr18 47811528 47811528 C G rs770180783 CXXC1 Synonymous SNV G252G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.551 48266 chr6 28297383 28297383 G A rs853677 ZSCAN31 Synonymous SNV H26H 0.02 0.018 0.014 7 23 7 0.018 4 0 0 1 0 1.132 48267 chr6 28331573 28331573 T A rs213227 ZKSCAN3 Nonsynonymous SNV H98Q 0.039 0.044 0.061 18 46 17 0.046 18 2 0 2 0 14.12 48268 chr6 157528197 157528197 C T rs112703040 ARID1B Synonymous SNV I1264I 0.026 0.013 0.014 11 30 5 0.028 4 0 0 0 0 Benign 12.87 48269 chr6 28264692 28264692 C G rs3800325 PGBD1 Nonsynonymous SNV Q248E 0.135 0.148 0.16 62 158 57 0.159 47 15 3 3 2 12.27 48270 chr6 117631431 117631431 T G rs552183 ROS1 Synonymous SNV R2083R 0.063 0.06 0.133 26 74 23 0.067 39 14 5 2 6 10.52 48271 chr19 7763703 7763703 A G rs2287866 FCER2 Synonymous SNV R19R 0.068 0.063 0.078 23 80 24 0.059 23 3 1 1 2 0.037 48272 chr19 7810709 7810709 T C CD209 Nonsynonymous SNV Q104R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.58 48273 chr6 117869311 117869311 C T rs138240393 DCBLD1 Synonymous SNV S619S 0.02 0.029 0.01 2 23 11 0.005 3 0 0 0 0 18.91 48274 chr6 28270047 28270047 C G rs6456811 PGBD1 Nonsynonymous SNV H806D 0.135 0.148 0.16 62 159 57 0.159 47 15 3 3 2 0.002 48275 chr11 102593273 102593273 T G rs12803000 MMP8 Synonymous SNV P78P 0.056 0.034 0.058 25 66 13 0.064 17 4 1 1 2 7.787 48276 chr6 3015865 3015865 C T rs4149367 NQO2 Synonymous SNV S135S 0.05 0.07 0.041 18 59 27 0.046 12 0 1 0 0 13.26 48277 chr11 102595579 102595579 G C rs17099450 MMP8 Nonsynonymous SNV S3C 0.057 0.039 0.061 25 67 15 0.064 18 4 1 1 2 0.001 48278 chr6 31129542 31129542 G A rs188298136 TCF19 Nonsynonymous SNV R186Q 0.009 0.013 0 4 11 5 0.01 0 4 2 0 2 Benign 11.98 48279 chr19 7997575 7997575 C T rs75137889 TIMM44 Synonymous SNV P308P 0.006 0.005 0.017 2 7 2 0.005 5 0 0 0 0 Benign 15.06 48280 chr6 131900390 131900390 C T rs34504481 ARG1 Synonymous SNV N90N 0.08 0.073 0.078 21 94 28 0.054 23 1 0 1 0 Benign 6.627 48281 chr6 656555 656555 G T rs1766848 HUS1B Nonsynonymous SNV H130Q 0.111 0.115 0.116 48 130 44 0.123 34 5 0 2 4 21.9 48282 chr11 102665973 102665973 C T rs1051121 MMP1 Synonymous SNV A211A 0.039 0.026 0.037 16 46 10 0.041 11 1 0 0 1 Benign 15.89 48283 chr6 2840782 2840782 C T rs34249702 SERPINB1 Synonymous SNV L13L 0.004 0.005 0.007 1 5 2 0.003 2 1 0 0 0 Benign 13.62 48284 chr6 24423918 24423918 G A rs114959453 MRS2 Nonsynonymous SNV R393H 0.007 0.01 0.014 1 8 4 0.003 4 0 1 0 0 26.2 48285 chr18 52265059 52265059 C T rs78303500 DYNAP Nonsynonymous SNV R54C 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 6.992 48286 chr6 33545340 33545340 G A rs2227925 BAK1 Synonymous SNV C14C 0.31 0.286 0.238 98 364 110 0.251 70 52 18 8 19 4.895 48287 chr6 12123049 12123049 G A rs2228219 HIVEP1 Synonymous SNV Q1007Q 0.046 0.044 0.061 20 54 17 0.051 18 0 2 2 2 0.002 48288 chr6 24583912 24583912 G A rs766395204 KIAA0319 Nonsynonymous SNV S293L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 31 48289 chr6 12123538 12123538 G T rs34258344 HIVEP1 Nonsynonymous SNV K1170N 0.048 0.047 0.061 20 56 18 0.051 18 0 2 2 2 10.27 48290 chr6 70963124 70963124 A C rs9346373 COL9A1 Synonymous SNV P333P 0.135 0.135 0.133 58 159 52 0.149 39 8 2 3 4 Benign 2.333 48291 chr6 110448742 110448742 G A rs55817927 WASF1 Synonymous SNV G21G 0.083 0.07 0.085 33 98 27 0.085 25 1 0 2 1 12.33 48292 chr19 8197958 8197958 C T rs36124795 FBN3 Nonsynonymous SNV V542I 0.05 0.034 0.031 11 59 13 0.028 9 0 0 0 0 1.943 48293 chr6 34507311 34507311 A G rs2233645 SPDEF Synonymous SNV P221P 0.05 0.047 0.017 32 59 18 0.082 5 3 0 0 2 4.012 48294 chr6 133092046 133092046 C T rs1128998 SLC18B1 Synonymous SNV E429E 0.072 0.102 0.102 41 84 39 0.105 30 3 1 1 3 11.37 48295 chr6 12164612 12164612 C G rs1042054 HIVEP1 Nonsynonymous SNV A2692G 0.049 0.047 0.061 19 57 18 0.049 18 0 2 2 2 0.004 48296 chr6 12292645 12292645 C A rs200759992 EDN1 Synonymous SNV R45R 0.01 0.003 0 1 12 1 0.003 0 0 0 0 0 19.41 48297 chr6 72922888 72922888 C T rs765324342 RIMS1 Synonymous SNV S21S 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 1.712 48298 chr6 34838731 34838731 C A rs139596861 UHRF1BP1 Synonymous SNV P1273P 0.017 0.008 0.017 1 20 3 0.003 5 0 0 0 0 12.89 48299 chr6 123130436 123130436 C T rs41292584 SMPDL3A Synonymous SNV D284D 0.061 0.052 0.058 24 72 20 0.062 17 2 1 0 2 12.21 48300 chr6 111688942 111688942 C T rs764221471 REV3L Nonsynonymous SNV E2017K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 48301 chr19 8389408 8389408 G A rs529108334 KANK3 Synonymous SNV I769I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.14 48302 chr6 35047371 35047371 G A rs149313840 ANKS1A Nonsynonymous SNV V788I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 10.35 48303 chr19 8389839 8389839 C T rs150685162 KANK3 Nonsynonymous SNV S693N 0.02 0.016 0.02 5 24 6 0.013 6 0 0 0 0 23.4 48304 chr11 105481765 105481765 G C GRIA4 Nonsynonymous SNV G14A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 48305 chr6 137479566 137479566 G A rs201560036 IL22RA2 Stop gain R39X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 36 48306 chr6 35086073 35086073 T G rs112605593 TCP11 Synonymous SNV A354A 0.017 0.008 0.014 1 20 3 0.003 4 0 0 0 0 6.051 48307 chr6 74079464 74079464 C T rs2280286 OOEP Nonsynonymous SNV A18T 0.014 0.005 0.003 2 17 2 0.005 1 0 0 0 0 6.143 48308 chr6 35086272 35086272 C T rs2234051 TCP11 Nonsynonymous SNV R288Q 0.017 0.008 0.014 1 20 3 0.003 4 0 0 0 0 32 48309 chr6 35086275 35086275 T C rs115171214 TCP11 Nonsynonymous SNV Q287R 0.017 0.008 0.014 1 20 3 0.003 4 0 0 0 0 23.8 48310 chr6 7414583 7414583 G A rs56160149 RIOK1 Nonsynonymous SNV R415H 0.014 0.01 0.017 5 16 4 0.013 5 0 0 0 0 13.22 48311 chr6 35391745 35391745 G A rs201884567 PPARD Synonymous SNV P51P 0.003 0 0 0 3 0 0 0 0 0 0 0 2.98 48312 chr6 142455731 142455731 C A rs9376674 GJE1 Nonsynonymous SNV A97E 0.144 0.122 0.156 50 169 47 0.128 46 16 4 2 5 24.2 48313 chr6 35705814 35705814 C G rs35769368 ARMC12 Synonymous SNV V58V 0.009 0.013 0.007 2 11 5 0.005 2 0 0 0 0 14.05 48314 chr6 35443835 35443835 G A rs35080860 TEAD3 Nonsynonymous SNV T254M 0.033 0.036 0.048 19 39 14 0.049 14 0 0 0 0 29 48315 chr6 35716641 35716641 G A rs61731466 ARMC12 Synonymous SNV T339T 0.017 0.016 0.02 6 20 6 0.015 6 0 0 0 0 10.18 48316 chr6 35452346 35452346 C T rs11756089 TEAD3 Synonymous SNV T86T 0.135 0.081 0.136 36 158 31 0.092 40 6 2 2 3 19.29 48317 chr6 74466377 74466377 C T rs6453696 CD109 Synonymous SNV Y138Y 0.514 0.516 0.51 189 603 198 0.485 150 158 43 36 45 8.034 48318 chr6 35467891 35467891 C T rs41270076 TULP1 Synonymous SNV T401T 0.026 0.013 0.02 7 31 5 0.018 6 0 0 0 0 Likely benign 15.82 48319 chr6 74493432 74493432 A C rs10455097 CD109 Nonsynonymous SNV Y626S 0.468 0.487 0.476 181 549 187 0.464 140 127 37 32 40 6.65 48320 chr11 108032139 108032139 G A rs201589987 NPAT Nonsynonymous SNV T1232I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.079 48321 chr6 74497009 74497009 A G rs2351528 CD109 Nonsynonymous SNV N720S 0.366 0.352 0.367 145 430 135 0.372 108 74 21 20 24 0.004 48322 chr6 26446011 26446011 G A rs138065289 BTN3A3 Stop gain W171X 0.043 0.039 0.024 15 51 15 0.038 7 0 0 0 0 27.8 48323 chr6 74497152 74497152 G A rs5023688 CD109 Nonsynonymous SNV V768I 0.354 0.344 0.367 142 416 132 0.364 108 74 21 20 24 0.001 48324 chr6 74517964 74517964 A G rs200052803 CD109 Synonymous SNV E1039E 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 2.338 48325 chr11 108124761 108124761 T C rs4986761 ATM Nonsynonymous SNV S707P 0.01 0.005 0.014 9 12 2 0.023 4 0 0 0 0 Conflicting interpretations of pathogenicity 15.81 48326 chr6 161159619 161159619 T C rs4252195 PLG Synonymous SNV L618L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 0.059 48327 chr6 144508563 144508563 G A rs45574234 STX11 Nonsynonymous SNV V267M 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Benign/Likely benign 24 48328 chr6 36297903 36297903 C T rs763874698 BNIP5 Nonsynonymous SNV A189T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.06 48329 chr19 8808240 8808240 C G rs73507819 ACTL9 Nonsynonymous SNV R271P 0.027 0.042 0.034 13 32 16 0.033 10 1 0 0 0 22.1 48330 chr6 36106712 36106712 G A rs41270090 MAPK13 Nonsynonymous SNV A300T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.78 48331 chr6 144869778 144869778 C T rs144429345 UTRN Nonsynonymous SNV H2200Y 0.004 0 0 7 5 0 0.018 0 0 0 0 0 12.12 48332 chr11 108236150 108236150 G A rs201199629 ATM Nonsynonymous SNV G3029D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.83 48333 chr6 36269725 36269725 A G rs34598813 PNPLA1 Nonsynonymous SNV E202G 0.058 0.063 0.085 20 68 24 0.051 25 2 1 0 1 Likely benign 22.2 48334 chr6 7585670 7585670 C A rs11558731 DSP Synonymous SNV R2126R 0.09 0.076 0.061 35 106 29 0.09 18 10 2 0 3 Benign 11.61 48335 chr6 36688962 36688962 - AGGCTGCCTCCCCTGAGG rs145193181 RAB44 A358_P359insASPEEA 0.076 0.076 0.095 24 89 29 0.062 28 4 0 3 2 48336 chr19 8979223 8979223 G C rs144048376 MUC16 Nonsynonymous SNV P14050A 0.022 0.031 0.014 11 26 12 0.028 4 0 0 0 0 23 48337 chr6 36298264 36298264 A G rs149607586 BNIP5 Synonymous SNV A68A 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 2.503 48338 chr6 36368276 36368276 C T rs62403732 PXT1 Synonymous SNV Q85Q 0.014 0.031 0.01 7 16 12 0.018 3 0 0 0 0 10.07 48339 chr6 76751738 76751738 C T rs140590110 IMPG1 Nonsynonymous SNV R58K 0.019 0.021 0.01 7 22 8 0.018 3 0 0 0 0 Benign 10.32 48340 chr19 8998752 8998752 G A rs746956602 MUC16 Nonsynonymous SNV P13611S 0.013 0.013 0.003 12 15 5 0.031 1 0 0 0 0 3.332 48341 chr11 1092872 1092872 C G rs56219745 MUC2 Nonsynonymous SNV T1564S 0 0 0.065 0 0 0 0 19 0 0 0 0 0.006 48342 chr6 7883386 7883386 G A rs9502656 TXNDC5 Synonymous SNV D322D 0.038 0.034 0.031 16 45 13 0.041 9 1 0 0 0 5.369 48343 chr6 166580257 166580257 G A rs920961 TBXT Synonymous SNV D98D 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 7.354 48344 chr6 32520764 32520764 G C rs67762553 HLA-DRB6 0.164 0.151 0.139 50 193 58 0.128 41 88 25 20 22 1.39 48345 chr6 32520795 32520795 T C rs66969121 HLA-DRB6 0.167 0.151 0.173 52 196 58 0.133 51 89 25 25 23 1.844 48346 chr6 117861923 117861923 A G rs35230921 DCBLD1 Synonymous SNV T398T 0.04 0.063 0.041 15 47 24 0.038 12 0 0 0 0 1.632 48347 chr6 32520832 32520832 G A rs66792445 HLA-DRB6 0.169 0.151 0.187 52 198 58 0.133 55 90 25 27 23 5.777 48348 chr6 32520841 32520841 G T rs71536524 HLA-DRB6 0.169 0.151 0.187 52 198 58 0.133 55 90 25 27 23 2.068 48349 chr6 117869530 117869530 G A rs11757765 DCBLD1 Synonymous SNV T692T 0.035 0.057 0.037 14 41 22 0.036 11 0 0 0 0 8.181 48350 chr6 32609173 32609173 C G rs10093 HLA-DQA1 Nonsynonymous SNV Q57E 0.269 0.273 0.33 103 316 105 0.264 97 132 42 45 42 0.001 48351 chr6 32610436 32610436 T C rs1048372 HLA-DQA1 Synonymous SNV C221C 0.268 0.266 0.33 103 315 102 0.264 97 132 41 45 42 0.002 48352 chr6 32610461 32610461 A G rs9260 HLA-DQA1 Nonsynonymous SNV M230V 0.354 0.336 0.371 151 416 129 0.387 109 183 54 51 69 0.002 48353 chr6 36936697 36936697 T C rs11548576 MTCH1 Synonymous SNV S384S 0.076 0.117 0.092 41 89 45 0.105 27 4 4 0 2 8.752 48354 chr6 149700179 149700179 G A rs34220315 TAB2 Synonymous SNV T376T 0.012 0.01 0.014 4 14 4 0.01 4 0 0 1 0 Benign 8.464 48355 chr6 36938432 36938432 G A rs2293381 MTCH1 Synonymous SNV F315F 0.037 0.036 0.037 10 44 14 0.026 11 0 0 1 0 14.67 48356 chr6 36953920 36953920 G - rs35538959 MTCH1 W11Gfs*82 0.034 0.036 0.014 6 40 14 0.015 4 3 2 0 0 48357 chr6 80749972 80749972 A C rs1801460 TTK Synonymous SNV P788P 0.171 0.154 0.167 79 201 59 0.203 49 19 3 6 11 0.15 48358 chr6 82461728 82461742 CCGCCGAAGTCGCCG - rs771239762 TENT5A D41_G45del 0.292 0.279 0.129 87 343 107 0.223 38 44 12 10 9 48359 chr6 82461742 82461742 - CCGCCGAAGTCGCCG TENT5A G45_G46insDFGGG 0.124 0.122 0 32 146 47 0.082 0 0 0 0 0 48360 chr6 135611585 135611585 T C rs759877397 AHI1 Synonymous SNV A1188A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.775 48361 chr6 168314939 168314939 G A rs149079362 AFDN Nonsynonymous SNV R694Q 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 25.3 48362 chr6 87969341 87969341 G A rs16878809 ZNF292 Synonymous SNV P1998P 0.04 0.042 0.037 19 47 16 0.049 11 1 0 0 1 0.316 48363 chr6 87994101 87994101 G A rs41273281 GJB7 Nonsynonymous SNV T177M 0.042 0.042 0.037 20 49 16 0.051 11 1 0 0 1 0.219 48364 chr6 168352280 168352280 C A rs144643489 AFDN Synonymous SNV R1392R 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 13.99 48365 chr6 87994550 87994550 G A rs41273283 GJB7 Synonymous SNV V27V 0.042 0.042 0.037 20 49 16 0.051 11 1 0 0 1 3.788 48366 chr6 88125581 88125581 G A rs13219364 CFAP206 Nonsynonymous SNV R154K 0.025 0.023 0.037 10 29 9 0.026 11 1 0 0 0 23 48367 chr6 168377178 168377178 T G rs4708616 HGC6.3 Nonsynonymous SNV Q52P 0.013 0.013 0.003 1 15 5 0.003 1 1 0 0 0 2.364 48368 chr6 168377219 168377219 T G rs76543658 HGC6.3 Nonsynonymous SNV Q38H 0.038 0.031 0 10 45 12 0.026 0 0 0 0 0 0.06 48369 chr6 88128089 88128089 G A rs12528249 CFAP206 Synonymous SNV A265A 0.033 0.029 0.037 11 39 11 0.028 11 1 0 0 0 7.313 48370 chr6 88318883 88318883 G A rs2307389 ORC3 Nonsynonymous SNV V74I 0.068 0.076 0.058 32 80 29 0.082 17 2 0 2 1 11.99 48371 chr6 168377220 168377220 T G rs79173693 HGC6.3 Nonsynonymous SNV Q38P 0.011 0.005 0 0 13 2 0 0 0 0 0 0 2.098 48372 chr6 88362943 88362943 C T rs2307393 ORC3 Synonymous SNV L355L 0.068 0.076 0.061 33 80 29 0.085 18 2 0 2 1 15.86 48373 chr19 9002612 9002612 T G rs544501645 MUC16 Nonsynonymous SNV K13402Q 0.082 0.073 0.075 19 96 28 0.049 22 0 0 0 0 8.029 48374 chr6 39880653 39880653 C T rs140243105 MOCS1 Nonsynonymous SNV E198K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 48375 chr6 32632688 32632688 T A rs1071637 HLA-DQB1 Nonsynonymous SNV D89V 0.26 0.245 0.276 73 305 94 0.187 81 129 38 35 31 0.002 48376 chr19 9002613 9002613 G A rs201378021 MUC16 Synonymous SNV P13401P 0.078 0.07 0.071 21 92 27 0.054 21 0 0 0 0 5.145 48377 chr6 138752841 138752841 G A rs142676930 NHSL1 Nonsynonymous SNV P885S 0.013 0.023 0.007 6 15 9 0.015 2 0 1 0 0 8.431 48378 chr19 9002622 9002622 A G rs761086641 MUC16 Synonymous SNV R13398R 0.045 0.055 0.034 16 53 21 0.041 10 0 0 0 0 1.211 48379 chr6 40400288 40400288 C T rs61731040 LRFN2 Nonsynonymous SNV A189T 0.075 0.091 0.112 34 88 35 0.087 33 0 3 2 1 21.1 48380 chr19 9002623 9002623 C T rs764581423 MUC16 Nonsynonymous SNV R13398H 0.047 0.052 0.031 12 55 20 0.031 9 0 0 0 0 5.357 48381 chr6 4069685 4069685 C T rs639905 FAM217A Nonsynonymous SNV A258T 0.143 0.13 0.116 69 168 50 0.177 34 16 1 2 7 0.008 48382 chr6 32632711 32632711 C T rs1049074 HLA-DQB1 Synonymous SNV A81A 0.161 0.151 0.19 49 189 58 0.126 56 76 23 25 19 14.96 48383 chr6 4087934 4087934 G C rs619483 C6orf201 Nonsynonymous SNV R20P 0.153 0.135 0.116 73 180 52 0.187 34 20 2 2 7 9.998 48384 chr19 9002636 9002636 C T rs754730196 MUC16 Nonsynonymous SNV V13394I 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 6.653 48385 chr6 170102284 170102284 G A rs752679970 C6orf120 Nonsynonymous SNV G9E 0.01 0.013 0 0 12 5 0 0 0 0 0 0 10.83 48386 chr6 4087949 4087949 A T rs13200786 C6orf201 Nonsynonymous SNV D25V 0.037 0.049 0.065 17 44 19 0.044 19 1 0 2 1 24.1 48387 chr6 170143300 170143300 A G rs13194101 TCTE3 Nonsynonymous SNV V121A 0.024 0.021 0.034 11 28 8 0.028 10 1 1 0 0 0.002 48388 chr6 32632781 32632781 A C rs1049066 HLA-DQB1 Nonsynonymous SNV L58R 0.195 0.172 0.201 58 229 66 0.149 59 101 30 28 25 5.767 48389 chr6 90340446 90340446 C T rs61739327 ANKRD6 Nonsynonymous SNV P572L 0.179 0.169 0.167 61 210 65 0.156 49 22 7 1 5 6.536 48390 chr6 170871047 170871052 CAGCAG - rs753090727 TBP Q74_Q75del 0.036 0.029 0.014 21 42 11 0.054 4 0 0 0 1 48391 chr6 32632782 32632782 G C rs12722115 HLA-DQB1 Nonsynonymous SNV L58V 0.191 0.169 0.201 54 224 65 0.138 59 99 29 28 23 0.004 48392 chr6 90368380 90368380 G A rs34732313 MDN1 Synonymous SNV A4990A 0.188 0.177 0.146 65 221 68 0.167 43 24 8 0 5 10.83 48393 chr6 32632783 32632783 A C rs1140310 HLA-DQB1 Synonymous SNV R57R 0.186 0.159 0.207 53 218 61 0.136 61 96 27 29 23 0.002 48394 chr6 142630763 142630763 A G rs145672534 ADGRG6 Nonsynonymous SNV M29V 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Likely benign 0.001 48395 chr6 90372574 90372574 A C rs36040566 MDN1 Nonsynonymous SNV D4783E 0.179 0.169 0.167 60 210 65 0.154 49 22 7 1 5 2.878 48396 chr19 9009614 9009614 T C rs36173286 MUC16 Nonsynonymous SNV T13038A 0.029 0.021 0.041 19 34 8 0.049 12 0 0 0 0 8.058 48397 chr6 128134516 128134516 C T rs142642838 THEMIS Nonsynonymous SNV A424T 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 1.308 48398 chr6 90397132 90397132 G C rs34766278 MDN1 Nonsynonymous SNV A3794G 0.179 0.169 0.167 60 210 65 0.154 49 22 7 1 5 0.196 48399 chr6 17637755 17637755 T G NUP153 Nonsynonymous SNV E656A 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 4.948 48400 chr6 17764731 17764731 G C rs6459569 KIF13A Synonymous SNV A1628A 0.101 0.089 0.109 39 118 34 0.1 32 6 1 2 3 6.196 48401 chr6 90408589 90408589 A G rs3736984 MDN1 Synonymous SNV L3055L 0.245 0.227 0.221 86 288 87 0.221 65 45 12 2 6 3.185 48402 chr6 41708938 41708938 C G rs4711690 PGC Nonsynonymous SNV Q241H 0.158 0.167 0.201 47 186 64 0.121 59 25 5 5 1 8.742 48403 chr18 67863844 67863844 T C rs17082206 RTTN Nonsynonymous SNV K245R 0.032 0.049 0.02 12 37 19 0.031 6 0 1 0 0 Benign 4.903 48404 chr6 90455078 90455078 C T rs149847666 MDN1 Synonymous SNV V1364V 0.014 0.031 0.01 3 16 12 0.008 3 0 1 0 0 15.63 48405 chr6 90499502 90499502 G A rs1036853 MDN1 Synonymous SNV D409D 0.189 0.177 0.177 64 222 68 0.164 52 24 8 1 5 8.506 48406 chr6 41129208 41129208 G A rs201258314 TREM2 Nonsynonymous SNV R62C 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 25.5 48407 chr6 90577707 90577707 G - rs527250207 CASP8AP2 T1567Hfs*52 0.181 0.169 0.167 63 213 65 0.162 49 23 6 2 4 48408 chr6 90577712 90577728 CTTTGCCCAGACATGGA - rs537929246 CASP8AP2 Stop gain S1568* 0.181 0.169 0.167 63 213 65 0.162 49 23 6 2 4 48409 chr6 152332825 152332825 C T rs61760169 ESR1 Synonymous SNV H377H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 13.35 48410 chr6 1312998 1312998 T C rs148598230 FOXQ1 Nonsynonymous SNV L20P 0.026 0.021 0.017 11 30 8 0.028 5 0 0 0 0 26.6 48411 chr6 41303995 41303995 A G rs9471577 NCR2 Nonsynonymous SNV M75V 0.131 0.159 0.099 51 154 61 0.131 29 11 9 2 0 0.001 48412 chr6 146007332 146007332 C T rs35230590 EPM2A Synonymous SNV G134G 0.189 0.169 0.173 69 222 65 0.177 51 20 6 4 5 Benign 13.63 48413 chr6 152532702 152532702 T C rs35763277 SYNE1 Nonsynonymous SNV S7435G 0.01 0.016 0.007 1 12 6 0.003 2 0 0 0 0 Benign 27.9 48414 chr18 72180831 72180831 C T rs142604056 CNDP2 Synonymous SNV P176P 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 17.71 48415 chr6 152534768 152534768 C T rs34891041 SYNE1 Synonymous SNV L7420L 0.014 0.021 0.017 1 17 8 0.003 5 0 0 0 0 Benign 16.12 48416 chr19 9012867 9012867 G T rs202204633 MUC16 Synonymous SNV L12859L 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 5.565 48417 chr6 146755132 146755132 G A rs2941 GRM1 Nonsynonymous SNV V929I 0.018 0.018 0.031 16 21 7 0.041 9 0 0 1 1 21.6 48418 chr6 33756532 33756532 G A rs13213889 LEMD2 Nonsynonymous SNV A121V 0.115 0.107 0.102 45 135 41 0.115 30 27 9 7 8 23.4 48419 chr6 152658062 152658062 C G rs117501809 SYNE1 Nonsynonymous SNV D4077H 0.032 0.016 0.024 8 38 6 0.021 7 1 0 0 0 Benign 32 48420 chr6 152686062 152686062 G A rs772459606 SYNE1 Synonymous SNV G3362G 0.006 0.008 0 0 7 3 0 0 0 0 0 0 11.31 48421 chr18 72344238 72344238 C T rs17817969 ZNF407 Synonymous SNV L421L 0.092 0.078 0.078 41 108 30 0.105 23 6 1 0 1 Likely benign 15.4 48422 chr19 9045821 9045821 G A rs61744216 MUC16 Nonsynonymous SNV T11937I 0.047 0.026 0.051 15 55 10 0.038 15 3 0 3 1 11.81 48423 chr18 72344509 72344509 G A rs7227263 ZNF407 Nonsynonymous SNV G512R 0.092 0.078 0.078 41 108 30 0.105 23 6 1 0 1 Likely benign 0.003 48424 chr6 147047296 147047296 T C rs78851618 ADGB Nonsynonymous SNV I772T 0.037 0.031 0.048 11 44 12 0.028 14 2 1 0 0 12.86 48425 chr6 132892215 132892215 G A rs1054529988 TAAR6 Nonsynonymous SNV R252K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.92 48426 chr18 72344553 72344553 G A rs7227391 ZNF407 Synonymous SNV T526T 0.099 0.083 0.078 42 116 32 0.108 23 8 1 0 1 Likely benign 8.548 48427 chr6 97247547 97247547 C T rs35358396 GPR63 Nonsynonymous SNV V21M 0.063 0.073 0.061 17 74 28 0.044 18 0 1 1 1 9.026 48428 chr6 132939071 132939071 G A rs8192647 TAAR2 Synonymous SNV L47L 0.023 0.016 0.024 3 27 6 0.008 7 1 0 0 0 2.188 48429 chr6 148840980 148840980 C T rs116958992 SASH1 Nonsynonymous SNV S148F 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 28.4 48430 chr6 42852357 42852357 C T rs16896142 RPL7L1 Synonymous SNV D106D 0.022 0.016 0.024 10 26 6 0.026 7 0 0 1 0 13.44 48431 chr6 15374428 15374428 T C rs34326651 JARID2 Synonymous SNV N42N 0.02 0.023 0.044 4 23 9 0.01 13 0 0 0 0 6.946 48432 chr6 42858524 42858524 C T rs61732354 C6orf226 Star tloss M1I 0.022 0.016 0.024 9 26 6 0.023 7 0 0 1 0 22.8 48433 chr6 42893121 42893121 G A rs36111725 PTCRA Nonsynonymous SNV A76T 0.023 0.016 0.031 9 27 6 0.023 9 0 0 1 0 0.56 48434 chr6 133119564 133119564 C A rs59989552 SLC18B1 Nonsynonymous SNV R11L 0.037 0.029 0.031 18 43 11 0.046 9 2 0 0 1 21.1 48435 chr6 150022977 150022977 G A rs55945045 LATS1 Nonsynonymous SNV R96W 0.014 0.016 0.01 2 17 6 0.005 3 0 0 0 0 27.4 48436 chr6 24847885 24847885 C T rs150142878 RIPOR2 Nonsynonymous SNV R371Q 0.015 0.018 0.01 8 18 7 0.021 3 0 0 0 0 23.5 48437 chr6 35745305 35745305 G A rs111605439 CLPSL2 Nonsynonymous SNV G52S 0.024 0.023 0.02 10 28 9 0.026 6 0 1 1 0 19.49 48438 chr6 99894086 99894086 C G rs41288947 USP45 Nonsynonymous SNV R463T 0.359 0.346 0.316 141 421 133 0.362 93 78 19 13 28 8.621 48439 chr6 25420350 25420350 A C rs41271807 CARMIL1 Synonymous SNV T49T 0.146 0.138 0.167 59 171 53 0.151 49 15 4 2 4 6.785 48440 chr6 43172529 43172529 G A rs45496798 CUL9 Synonymous SNV S1461S 0.015 0.008 0.007 3 18 3 0.008 2 0 0 0 0 9.384 48441 chr6 25726666 25726666 C G rs77165772 HIST1H2AA Synonymous SNV R30R 0.014 0.013 0.017 3 16 5 0.008 5 0 0 0 0 1.339 48442 chr6 35960390 35960390 C T rs17707331 SLC26A8 Nonsynonymous SNV S230N 0.134 0.148 0.153 47 157 57 0.121 45 6 5 5 4 0.502 48443 chr19 9069303 9069303 A G rs181693567 MUC16 Nonsynonymous SNV M6048T 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 Likely benign 0.028 48444 chr6 43188496 43188496 G A rs143347950 CUL9 Synonymous SNV A2145A 0.01 0.013 0.007 2 12 5 0.005 2 0 0 0 0 Benign 14.22 48445 chr6 35967772 35967772 T C rs17713154 SLC26A8 Nonsynonymous SNV I148V 0.136 0.148 0.153 47 160 57 0.121 45 6 5 5 4 9.947 48446 chr6 43307092 43307092 T C rs151153042 ZNF318 Synonymous SNV E1548E 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 0.016 48447 chr6 35980121 35980121 C T rs743923 SLC26A8 Nonsynonymous SNV V73M 0.214 0.219 0.252 81 251 84 0.208 74 23 10 9 11 4.842 48448 chr6 26017598 26017598 G A rs34877685 H1-1 Synonymous SNV P121P 0.017 0.034 0.031 14 20 13 0.036 9 0 0 0 0 7.646 48449 chr6 26017675 26017675 A G rs62000984 H1-1 Synonymous SNV L96L 0.167 0.164 0.139 67 196 63 0.172 41 19 3 1 6 0.748 48450 chr6 26033641 26033641 G A rs2230654 H2AC4 Synonymous SNV L52L 0.181 0.19 0.184 73 213 73 0.187 54 21 4 4 9 6.39 48451 chr6 158510873 158510873 C A rs61748685 SYNJ2 Synonymous SNV P916P 0.018 0.01 0.014 5 21 4 0.013 4 0 0 0 0 14.52 48452 chr11 119051965 119051965 C T rs756237650 NLRX1 Nonsynonymous SNV R785W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 48453 chr6 44093808 44093808 T G rs7752653 MRPL14 Nonsynonymous SNV Y8S 0.205 0.206 0 78 241 79 0.2 0 26 11 0 9 6.951 48454 chr6 36336764 36336764 G A rs2234080 ETV7 Nonsynonymous SNV A99V 0.013 0.008 0.007 2 15 3 0.005 2 0 0 0 0 29.6 48455 chr6 139229872 139229872 C T rs1044418 REPS1 Nonsynonymous SNV V626I 0.106 0.107 0.099 40 125 41 0.103 29 9 3 1 3 23.1 48456 chr6 26200050 26200050 C G rs61750967 H2BC7 Synonymous SNV S88S 0.023 0.029 0.027 15 27 11 0.038 8 0 0 0 0 9.126 48457 chr6 151673074 151673074 C G rs41289375 AKAP12 Nonsynonymous SNV P1078R 0.058 0.047 0.041 20 68 18 0.051 12 1 0 0 0 0.003 48458 chr6 45390487 45390504 GGCGGCGGCGGCGGCTGC - rs771859643 RUNX2 A70_A75del 0.083 0.068 0.099 24 97 26 0.062 29 6 1 2 0 48459 chr6 36995222 36995222 G A rs2274587 FGD2 Synonymous SNV T541T 0.061 0.063 0.041 11 72 24 0.028 12 2 4 0 0 7.604 48460 chr6 37138220 37138220 C G rs262936 PIM1 Nonsynonymous SNV H48D 0.216 0.201 0.235 79 253 77 0.203 69 29 5 6 7 13.56 48461 chr6 46620252 46620252 C G rs12192544 CYP39A1 Nonsynonymous SNV R23P 0.24 0.242 0.197 117 282 93 0.3 58 36 11 5 19 20.9 48462 chr6 46563817 46563817 A T rs7761731 CYP39A1 Nonsynonymous SNV N152K 0.32 0.305 0.313 119 376 117 0.305 92 65 17 12 20 1.557 48463 chr6 37619830 37619830 G A rs62398393 MDGA1 Synonymous SNV P423P 0.056 0.029 0.044 19 66 11 0.049 13 2 0 0 2 11.7 48464 chr6 144262819 144262819 C T rs72546304 PLAGL1 Synonymous SNV L378L 0.032 0.023 0.01 17 37 9 0.044 3 1 0 0 0 8.937 48465 chr11 120169065 120169065 A G POU2F3 Nonsynonymous SNV N77S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.457 48466 chr6 144743015 144743015 G A rs114750149 UTRN Nonsynonymous SNV S48N 0.015 0.018 0.02 8 18 7 0.021 6 0 0 0 0 24.3 48467 chr6 46684222 46684222 C T rs1805017 PLA2G7 Nonsynonymous SNV R92H 0.279 0.268 0.269 127 328 103 0.326 79 52 13 11 23 not provided 5.542 48468 chr6 27778097 27778097 C T rs2021835 H3C10 Synonymous SNV D82D 0.057 0.057 0.065 23 67 22 0.059 19 0 0 2 0 12.13 48469 chr19 868236 868236 A G rs61738006 MED16 Synonymous SNV R833R 0.014 0.016 0.017 4 16 6 0.01 5 0 0 0 0 0.028 48470 chr7 100550079 100550079 A G rs28379747 MUC3A Synonymous SNV S220S 0.135 0.104 0.003 50 159 40 0.128 1 0 0 0 0 0.88 48471 chr6 38905957 38905957 C T rs61757218 DNAH8 Nonsynonymous SNV T3707M 0.01 0.01 0.003 3 12 4 0.008 1 0 0 0 0 Benign/Likely benign 34 48472 chr6 160198359 160198359 C T rs3464 ACAT2 Synonymous SNV V290V 0.175 0.201 0.201 70 206 77 0.179 59 13 7 6 5 18.33 48473 chr6 38951998 38951998 C T rs1537232 DNAH8 Nonsynonymous SNV T4106M 0.095 0.094 0.116 39 112 36 0.1 34 10 3 1 1 34 48474 chr6 152651971 152651971 T G rs147667464 SYNE1 Nonsynonymous SNV N4546H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.5 48475 chr6 4716016 4716016 A G rs3812179 CDYL Nonsynonymous SNV T2A 0.18 0.156 0.204 76 211 60 0.195 60 30 7 5 11 0.003 48476 chr6 4716037 4716037 T C rs3812178 CDYL Nonsynonymous SNV S9P 0.204 0.174 0.204 83 239 67 0.213 60 31 7 5 11 0.007 48477 chr6 39033593 39033593 G A rs3765468 GLP1R Synonymous SNV K130K 0.081 0.07 0.075 34 95 27 0.087 22 4 2 0 1 10.97 48478 chr11 122742050 122742050 T C rs34242434 CRTAM Synonymous SNV N176N 0.129 0.112 0.119 43 152 43 0.11 35 7 2 4 4 0.026 48479 chr6 33648144 33648144 C T rs11967839 ITPR3 Synonymous SNV Y1421Y 0.044 0.023 0.044 14 52 9 0.036 13 1 0 0 0 12.05 48480 chr6 33694659 33694659 G A rs34252064 IP6K3 Synonymous SNV S146S 0.04 0.021 0.034 13 47 8 0.033 10 1 0 0 0 10.57 48481 chr6 34100968 34100968 G A rs41267667 GRM4 Synonymous SNV G102G 0.065 0.052 0.048 21 76 20 0.054 14 1 1 0 1 11.24 48482 chr6 40360629 40360629 C A rs776145223 LRFN2 Nonsynonymous SNV A475S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 10.68 48483 chr19 1009183 1009183 T A rs751378096 GRIN3B Nonsynonymous SNV V905E 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 2.238 48484 chr6 149699333 149699333 A G rs13215304 TAB2 Synonymous SNV G94G 0.033 0.039 0.031 12 39 15 0.031 9 1 0 1 0 0.002 48485 chr6 4069133 4069133 T C rs10485172 FAM217A Nonsynonymous SNV M442V 0.084 0.073 0.075 44 99 28 0.113 22 3 0 2 5 0.004 48486 chr6 155054967 155054967 C T rs147069918 SCAF8 Nonsynonymous SNV A56V 0.016 0.01 0 1 19 4 0.003 0 0 0 0 0 17.65 48487 chr6 155109132 155109132 A G rs149559791 SCAF8 Synonymous SNV L99L 0.005 0.003 0.007 6 6 1 0.015 2 0 0 0 0 4.433 48488 chr19 9452669 9452670 AA - rs777797342 ZNF559 Q245Rfs*5 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 48489 chr6 4999011 4999011 A G rs12214401 RPP40 Synonymous SNV S143S 0.021 0.023 0.003 7 25 9 0.018 1 1 1 0 0 1.376 48490 chr19 9492071 9492071 T G rs150032661 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV L355R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 26.8 48491 chr6 34985800 34985800 A G rs2820236 ANKS1A Synonymous SNV L658L 0.029 0.023 0.014 20 34 9 0.051 4 0 0 0 1 0.287 48492 chr6 41021108 41021108 G A rs41273358 APOBEC2 Nonsynonymous SNV A8T 0.02 0.016 0.003 6 24 6 0.015 1 0 0 0 0 0.031 48493 chr6 166574346 166574346 G A rs117097130 TBXT Nonsynonymous SNV A280V 0.011 0.003 0.007 2 13 1 0.005 2 0 0 0 0 Likely benign 20.1 48494 chr11 123814439 123814439 A G rs140244798 OR6T1 Nonsynonymous SNV I36T 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 0.036 48495 chr6 150174212 150174212 T A LRP11 Nonsynonymous SNV E233V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 48496 chr6 150174213 150174213 C A LRP11 Stop gain E233X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 37 48497 chr6 157522360 157522360 G A rs61738955 ARID1B Synonymous SNV P834P 0.035 0.039 0.041 10 41 15 0.026 12 3 0 0 0 Benign 9.633 48498 chr6 41250466 41250466 T A rs2234237 TREM1 Nonsynonymous SNV T25S 0.105 0.091 0.099 43 123 35 0.11 29 6 3 3 0 0.001 48499 chr19 10081322 10081322 G A rs61729461 COL5A3 Synonymous SNV G1304G 0.091 0.096 0.133 32 107 37 0.082 39 9 3 4 2 4.544 48500 chr6 52130926 52130926 C T rs564913818 MCM3 Synonymous SNV T444T 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 18.34 48501 chr6 52269046 52269046 C G rs3799274 PAQR8 Synonymous SNV V345V 0.221 0.229 0.235 90 260 88 0.231 69 24 10 4 7 2.639 48502 chr6 52303291 52303291 C T rs3804506 EFHC1 Nonsynonymous SNV R159W 0.226 0.227 0.221 90 265 87 0.231 65 26 8 4 8 Benign/Likely benign 23.1 48503 chr6 159407415 159407415 C T rs34725942 RSPH3 Synonymous SNV R223R 0.019 0.018 0.017 1 22 7 0.003 5 0 0 0 0 Benign 12.37 48504 chr6 159407447 159407447 G A rs41267753 RSPH3 Nonsynonymous SNV R213W 0.023 0.034 0.02 2 27 13 0.005 6 1 0 0 0 Benign 29.3 48505 chr7 100551253 100551253 T C rs77244991 MUC3A Nonsynonymous SNV Y612H 0.04 0.042 0 16 47 16 0.041 0 0 0 0 0 2.226 48506 chr19 1057343 1057343 G A rs117187003 ABCA7 Nonsynonymous SNV V1599M 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Likely benign 27.9 48507 chr6 52878654 52878654 C T rs33936662 CILK1 Nonsynonymous SNV V320I 0.076 0.063 0.085 31 89 24 0.079 25 5 0 1 3 20.1 48508 chr7 100551268 100551268 A T rs75879657 MUC3A Nonsynonymous SNV T617S 0.043 0.042 0 16 50 16 0.041 0 0 0 0 0 0.001 48509 chr6 42185562 42185562 G A rs141744276 MRPS10 Nonsynonymous SNV A9V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 8.928 48510 chr11 123901037 123901037 C T rs959351652 OR10G8 Synonymous SNV A236A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 48511 chr6 159462424 159462424 C T rs41267765 TAGAP Nonsynonymous SNV E84K 0.02 0.021 0.024 5 24 8 0.013 7 0 0 0 0 1.343 48512 chr6 36297893 36297893 C T rs41272160 BNIP5 Nonsynonymous SNV R192H 0.017 0.01 0.003 8 20 4 0.021 1 1 0 0 1 0.141 48513 chr7 100551293 100551293 A C rs74183623 MUC3A Nonsynonymous SNV H625P 0.043 0.042 0 16 50 16 0.041 0 0 0 0 0 0.001 48514 chr6 167571266 167571266 A T rs4569938 GPR31 Synonymous SNV G18G 0.066 0.057 0.092 21 77 22 0.054 27 3 0 1 2 0.004 48515 chr19 1077990 1077990 G A rs376111222 ARHGAP45 Synonymous SNV T75T 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 8.216 48516 chr7 100551297 100551297 T C rs74892555 MUC3A Synonymous SNV F626F 0.043 0.042 0 16 50 16 0.041 0 0 0 0 0 0.013 48517 chr6 159463221 159463221 G A rs35105682 TAGAP Synonymous SNV S5S 0.016 0.018 0.017 3 19 7 0.008 5 0 0 0 0 13.95 48518 chr6 42573513 42573513 T C rs17855250 UBR2 Synonymous SNV Y239Y 0.111 0.143 0.126 32 130 55 0.082 37 7 3 2 2 1.886 48519 chr7 100551304 100551304 T G rs77397007 MUC3A Nonsynonymous SNV S629A 0.043 0.042 0 16 50 16 0.041 0 0 0 0 0 0.008 48520 chr6 159646576 159646576 C T rs200915228 FNDC1 Synonymous SNV T298T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 48521 chr6 42585022 42585022 G A rs62414625 UBR2 Synonymous SNV E409E 0.111 0.141 0.126 32 130 54 0.082 37 7 3 2 2 6.866 48522 chr7 100551314 100551314 C G rs79779043 MUC3A Nonsynonymous SNV A632G 0.034 0.042 0 8 40 16 0.021 0 0 0 0 0 0.001 48523 chr6 168463624 168463624 G A rs902393 FRMD1 Nonsynonymous SNV R206C 0.058 0.06 0.044 28 68 23 0.072 13 2 1 0 0 10.85 48524 chr19 10246944 10246944 G A rs372868127 DNMT1 Synonymous SNV P1490P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.13 48525 chr6 42713787 42713787 C A TBCC Nonsynonymous SNV A9S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.424 48526 chr11 124180359 124180359 A C rs2510433 OR8D1 Nonsynonymous SNV F102V 0.024 0.039 0.041 18 28 15 0.046 12 0 0 0 0 20.2 48527 chr6 52101844 52101844 T C rs2397084 IL17F Nonsynonymous SNV E126G 0.112 0.109 0.065 30 132 42 0.077 19 5 2 0 1 Benign 28.2 48528 chr6 168708763 168708763 C A rs149504015 DACT2 Synonymous SNV G388G 0.01 0.003 0.007 5 12 1 0.013 2 0 0 0 0 10.64 48529 chr6 168709234 168709234 - CCCCTGCCGGCA rs142218608 DACT2 G231_G232insAGRG 0.019 0.005 0.024 6 22 2 0.015 7 1 0 0 0 48530 chr6 56033094 56033094 G A rs35471617 COL21A1 Nonsynonymous SNV T343M 0.078 0.096 0.078 33 92 37 0.085 23 2 2 1 0 13.75 48531 chr6 42995205 42995205 C G RRP36 Nonsynonymous SNV F206L 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 48532 chr19 1467983 1467983 C A rs931804709 APC2 Synonymous SNV P1560P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.82 48533 chr6 42996877 42996877 C T rs934029119 RRP36 Nonsynonymous SNV R226C 0.003 0 0 0 4 0 0 0 0 0 0 0 35 48534 chr6 56346956 56346956 C T rs201115435 DST Synonymous SNV V4518V 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 17.55 48535 chr6 168999670 168999670 C T rs41266325 SMOC2 Synonymous SNV P270P 0.017 0.021 0.024 4 20 8 0.01 7 1 0 1 0 12.78 48536 chr6 152655352 152655352 C T rs149536991 SYNE1 Synonymous SNV K4124K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.922 48537 chr6 6152137 6152137 C G rs5988 F13A1 Nonsynonymous SNV E652Q 0.239 0.273 0.279 88 280 105 0.226 82 32 13 10 7 Benign 17.64 48538 chr6 169648967 169648967 C T rs148267594 THBS2 Nonsynonymous SNV V52M 0.003 0 0 0 3 0 0 0 0 0 0 0 7.266 48539 chr6 6152140 6152140 C T rs5987 F13A1 Nonsynonymous SNV V651I 0.073 0.091 0.085 30 86 35 0.077 25 2 0 1 0 Benign/Likely benign 18.93 48540 chr6 152779933 152779933 G A rs34610829 SYNE1 Nonsynonymous SNV R850C 0.036 0.063 0.051 13 42 24 0.033 15 0 2 0 0 Benign/Likely benign 24.5 48541 chr6 6174856 6174856 T C rs5986 F13A1 Synonymous SNV E568E 0.089 0.12 0.116 42 104 46 0.108 34 2 4 1 5 Benign/Likely benign 4.005 48542 chr6 170144194 170144194 T C rs2274954 TCTE3 Synonymous SNV S99S 0.018 0.005 0.003 7 21 2 0.018 1 0 0 0 0 6.837 48543 chr6 160485912 160485912 A G rs146110381 IGF2R Nonsynonymous SNV D1365G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 48544 chr19 11098596 11098596 T C rs140192268 SMARCA4 Nonsynonymous SNV Y372H 0.017 0.008 0.007 7 20 3 0.018 2 0 0 0 0 Benign 16.29 48545 chr6 43475245 43475245 G A rs769558368 LRRC73 Nonsynonymous SNV R277W 0.003 0 0 0 4 0 0 0 0 0 0 0 18.57 48546 chr6 170871046 170871046 - CAG rs775224229 TBP Q75_A76insQ 0.019 0.01 0.01 3 22 4 0.008 3 0 0 0 0 48547 chr6 43593582 43593582 C T rs201217139 GTPBP2 Nonsynonymous SNV V52I 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 48548 chr6 66053934 66053934 T G rs61753611 EYS Nonsynonymous SNV K532N 0.017 0.021 0.02 8 20 8 0.021 6 0 0 0 0 Benign 0.117 48549 chr11 1254390 1254390 C A rs747846001 MUC5B Nonsynonymous SNV T738N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.04 48550 chr11 125443429 125443429 T C rs1284351 STT3A-AS1 0 0 0.398 0 0 0 0 117 0 0 24 0 1.886 48551 chr19 11226800 11226800 C T rs5929 LDLR Synonymous SNV P371P 0.032 0.042 0.041 16 38 16 0.041 12 1 0 0 1 Benign 12.1 48552 chr6 55924962 55924962 A G rs12209452 COL21A1 Nonsynonymous SNV L219P 0.057 0.057 0.075 27 67 22 0.069 22 2 0 0 1 12.8 48553 chr6 44141088 44141088 G A rs6938938 CAPN11 Nonsynonymous SNV V266M 0.088 0.078 0.065 28 103 30 0.072 19 2 2 0 0 10.47 48554 chr6 18122535 18122535 C A rs187783545 NHLRC1 Synonymous SNV P101P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.65 48555 chr6 157256671 157256671 C T rs149931590 ARID1B Synonymous SNV D653D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 48556 chr6 7229619 7229619 G A rs12192672 RREB1 Synonymous SNV A429A 0.207 0.208 0.231 110 243 80 0.282 68 25 9 7 16 0.113 48557 chr6 44253993 44253993 C T rs114670402 TCTE1 Nonsynonymous SNV R185Q 0.003 0 0 0 3 0 0 0 0 0 0 0 9.173 48558 chr19 2278755 2278755 C T rs73518414 PEAK3 Nonsynonymous SNV R147H 0.077 0.086 0.088 34 90 33 0.087 26 3 2 2 1 10.29 48559 chr19 2280885 2280885 G A rs55662626 PEAK3 Nonsynonymous SNV P16S 0.053 0.052 0.01 24 62 20 0.062 3 2 1 0 0 8.916 48560 chr19 11473358 11473358 C G rs11540666 PLPPR2 Nonsynonymous SNV T253S 0.095 0.109 0.088 43 111 42 0.11 26 7 5 0 5 23.5 48561 chr6 161512446 161512446 T A rs55704622 MAP3K4 Nonsynonymous SNV N1003K 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 15.46 48562 chr6 162206852 162206852 G A rs34424986 PRKN Nonsynonymous SNV R126W 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Pathogenic 34 48563 chr6 5999254 5999254 G A rs140163412 NRN1 Synonymous SNV L128L 0.012 0.023 0.003 5 14 9 0.013 1 0 0 0 0 9.696 48564 chr6 7374207 7374207 T G rs2876098 CAGE1 Nonsynonymous SNV E146A 0.074 0.096 0.112 31 87 37 0.079 33 1 2 2 0 13.5 48565 chr19 11537603 11537603 G A rs35061520 CCDC151 Nonsynonymous SNV T151I 0.025 0.016 0.031 6 29 6 0.015 9 1 1 1 0 Benign 16.8 48566 chr6 44797585 44797585 G A rs573709624 SUPT3H Nonsynonymous SNV R156C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 26.6 48567 chr6 42072692 42072692 G T rs74901308 C6orf132 Synonymous SNV I986I 0.117 0.096 0.15 48 137 37 0.123 44 15 4 5 5 11.92 48568 chr6 64394837 64394837 C T rs140230222 PHF3 Nonsynonymous SNV A317V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 48569 chr6 42196127 42196127 C T rs11751765 TRERF1 Nonsynonymous SNV D1207N 0.056 0.065 0.058 16 66 25 0.041 17 0 1 1 0 24.3 48570 chr6 65300143 65300143 G C rs16895517 EYS Nonsynonymous SNV L1873V 0.107 0.102 0.071 50 126 39 0.128 21 6 3 0 0 Benign 0.002 48571 chr6 24818785 24818785 A G rs9358802 RIPOR2 Synonymous SNV A979A 0.267 0.19 0.272 92 314 73 0.236 80 59 11 8 12 Benign 4.399 48572 chr7 100552547 100552547 C T rs747224681 MUC3A Nonsynonymous SNV P1043L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.93 48573 chr6 65301167 65301167 C T rs62415825 EYS Synonymous SNV E1531E 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 5.659 48574 chr6 65301211 65301211 T C rs62415826 EYS Nonsynonymous SNV S1517G 0.108 0.104 0.071 50 127 40 0.128 21 6 3 0 0 Benign 0.001 48575 chr19 12384411 12384411 G A rs142288021 ZNF44 Nonsynonymous SNV T188I 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 Likely benign 23.4 48576 chr6 65301217 65301217 G A rs62415827 EYS Nonsynonymous SNV R1515W 0.108 0.104 0.071 50 127 40 0.128 21 6 3 0 0 Benign 17.85 48577 chr19 12386800 12386800 C G rs137984148 ZNF44 Nonsynonymous SNV R2P 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 Likely benign 22.4 48578 chr6 65301408 65301408 A G rs62415828 EYS Nonsynonymous SNV I1451T 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 0.003 48579 chr11 126110813 126110813 C A rs74892607 FAM118B Synonymous SNV A71A 0.003 0.01 0.007 2 3 4 0.005 2 0 0 0 0 15.29 48580 chr11 126225439 126225439 C A rs146312020 GSEC 0 0 0.02 0 0 0 0 6 0 0 0 0 10.62 48581 chr6 166721424 166721424 C T rs13205770 PRR18 Synonymous SNV P69P 0.025 0.005 0.024 9 29 2 0.023 7 12 1 3 4 15.52 48582 chr6 65301679 65301679 T C rs17403955 EYS Nonsynonymous SNV I1361V 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 0.002 48583 chr6 65301734 65301734 G A rs12663619 EYS Synonymous SNV S1342S 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 10.8 48584 chr11 126968472 126968472 C T rs11220767 LOC101929473 0 0 0.133 0 0 0 0 39 0 0 1 0 7.106 48585 chr6 65301787 65301787 G C rs12663622 EYS Nonsynonymous SNV Q1325E 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 0.001 48586 chr6 65301824 65301824 T C rs12662610 EYS Synonymous SNV T1312T 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 0.009 48587 chr6 65301854 65301854 G A rs12663916 EYS Synonymous SNV H1302H 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 3.483 48588 chr19 13210339 13210339 G C LYL1 Nonsynonymous SNV L213V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.202 48589 chr6 65303100 65303100 T C rs17404123 EYS Nonsynonymous SNV I1263V 0.108 0.102 0.071 50 127 39 0.128 21 6 3 0 0 Benign 0.001 48590 chr6 167343106 167343106 G T rs140357917 RNASET2 Nonsynonymous SNV F247L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.94 48591 chr6 65612302 65612302 A G rs75634595 EYS Synonymous SNV N911N 0.07 0.049 0.037 23 82 19 0.059 11 1 1 0 1 Benign/Likely benign 0.637 48592 chr11 128839036 128839036 G A rs748364965 ARHGAP32 Synonymous SNV H1661H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.907 48593 chr11 128840872 128840872 G A rs61748829 ARHGAP32 Synonymous SNV R1049R 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 10.06 48594 chr6 43484532 43484532 G A rs2231763 YIPF3 Nonsynonymous SNV A5V 0.042 0.044 0.027 10 49 17 0.026 8 1 0 0 0 22 48595 chr6 75994151 75994151 A G rs240374 TMEM30A Synonymous SNV I68I 0.089 0.081 0.143 24 105 31 0.062 42 2 1 5 1 7.501 48596 chr6 44115169 44115169 G A rs4714759 TMEM63B Nonsynonymous SNV V307M 0.07 0.021 0.071 19 82 8 0.049 21 2 0 0 1 21.7 48597 chr6 44117607 44117607 C T rs4714761 TMEM63B Synonymous SNV I475I 0.043 0.013 0.044 16 51 5 0.041 13 1 0 0 1 16.25 48598 chr6 44117664 44117664 C T rs4714762 TMEM63B Synonymous SNV I494I 0.07 0.021 0.071 19 82 8 0.049 21 2 0 0 1 19.94 48599 chr6 44119676 44119676 A G rs3734697 TMEM63B Synonymous SNV P589P 0.07 0.021 0.071 19 82 8 0.049 21 2 0 0 1 9.192 48600 chr11 130773223 130773223 C G rs79138684 SNX19 Nonsynonymous SNV E174Q 0.007 0.005 0.031 6 8 2 0.015 9 0 0 0 0 19.72 48601 chr6 7231770 7231770 A G rs34561875 RREB1 Synonymous SNV P1146P 0.061 0.078 0.095 35 72 30 0.09 28 3 0 1 1 0.052 48602 chr6 7246998 7246998 G A rs2281833 RREB1 Nonsynonymous SNV G1384R 0.104 0.107 0.119 41 122 41 0.105 35 6 0 3 0 10.05 48603 chr6 44243154 44243154 C T rs12194552 TMEM151B Synonymous SNV R197R 0.105 0.104 0.102 47 123 40 0.121 30 6 1 2 2 13.18 48604 chr19 14554394 14554394 G A rs55814382 PKN1 Synonymous SNV A145A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 16.09 48605 chr6 79711629 79711629 T G PHIP Synonymous SNV G622G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.607 48606 chr11 1331254 1331254 G C rs5743854 TOLLIP-AS1 0 0 0.884 0 0 0 0 260 0 0 116 0 3.851 48607 chr19 14569074 14569074 C T rs35132656 PKN1 Nonsynonymous SNV R436W 0.004 0.005 0 0 5 2 0 0 0 0 0 0 34 48608 chr6 49754446 49754446 G A rs144584193 PGK2 Nonsynonymous SNV A152V 0.003 0 0 0 3 0 0 0 0 0 0 0 15.45 48609 chr19 14590236 14590236 C T rs3815715 GIPC1 Synonymous SNV T155T 0.203 0.24 0.051 70 238 92 0.179 15 24 14 5 8 18.4 48610 chr6 49814379 49814379 T C rs3209304 CRISP1 Nonsynonymous SNV T97A 0.07 0.049 0.071 21 82 19 0.054 21 5 1 1 1 10.63 48611 chr6 49928116 49928116 G A rs17736782 DEFB114 Synonymous SNV Y33Y 0.083 0.065 0.065 25 97 25 0.064 19 6 0 1 2 0.115 48612 chr6 49931783 49931783 A G rs73737276 DEFB114 Synonymous SNV Y12Y 0.074 0.057 0.058 25 87 22 0.064 17 6 0 1 2 0.192 48613 chr6 83767613 83767613 C T rs771453519 UBE3D Nonsynonymous SNV R37H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 48614 chr11 14889208 14889208 G A rs143026894 PDE3B Nonsynonymous SNV E1015K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 25.8 48615 chr19 14866600 14866600 G A rs143281951 ADGRE2 Nonsynonymous SNV L428F 0.01 0.013 0.003 4 12 5 0.01 1 0 0 0 0 4.384 48616 chr6 84894942 84894942 C T rs41271605 CEP162 Synonymous SNV L466L 0.055 0.068 0.041 11 65 26 0.028 12 1 0 0 1 4.875 48617 chr6 166721073 166721073 C A rs372264427 PRR18 Synonymous SNV P186P 0.009 0.013 0.017 7 10 5 0.018 5 0 0 0 1 16.99 48618 chr6 51497503 51497503 C A rs76572975 PKHD1 Nonsynonymous SNV R3842L 0.049 0.021 0.048 18 57 8 0.046 14 1 0 0 1 Benign 23.3 48619 chr6 74354175 74354175 C T rs472294 SLC17A5 Synonymous SNV A82A 0.115 0.107 0.133 52 135 41 0.133 39 7 2 3 7 Benign 18.81 48620 chr6 166826349 166826349 A G rs202121820 RPS6KA2 Synonymous SNV A603A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.223 48621 chr6 87725583 87725583 C T rs6302 HTR1E Synonymous SNV H177H 0.066 0.073 0.071 31 77 28 0.079 21 4 0 1 1 10.71 48622 chr6 87965528 87965528 T C rs6908834 ZNF292 Synonymous SNV C727C 0.399 0.396 0.357 143 469 152 0.367 105 95 31 23 26 0.005 48623 chr6 51920485 51920485 G A rs45500692 PKHD1 Nonsynonymous SNV T579M 0.054 0.031 0.048 25 63 12 0.064 14 2 0 1 0 Benign/Likely benign 24.6 48624 chr6 7542274 7542274 T C rs36087964 DSP Synonymous SNV Y42Y 0.056 0.042 0.065 28 66 16 0.072 19 0 0 0 1 Benign 0.092 48625 chr6 88224016 88224016 C T rs4615353 RARS2 Nonsynonymous SNV R578H 0.026 0.026 0 7 31 10 0.018 0 3 3 0 1 2.083 48626 chr6 88224164 88224164 T C rs8802 RARS2 Synonymous SNV K393K 0.079 0.089 0.075 33 93 34 0.085 22 3 4 1 1 Benign/Likely benign 9.228 48627 chr6 28297368 28297368 G A rs41269297 ZSCAN31 Synonymous SNV N31N 0.072 0.07 0.054 26 85 27 0.067 16 7 0 0 3 8.017 48628 chr7 101891907 101891907 G A rs553811765 CUX1 Nonsynonymous SNV R1379Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.73 48629 chr6 24596526 24596526 G T rs148566925 KIAA0319 Nonsynonymous SNV P81T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 10.11 48630 chr6 3010337 3010337 A G rs17136117 NQO2 Nonsynonymous SNV E29G 0.009 0.008 0.017 5 11 3 0.013 5 0 0 0 0 22.6 48631 chr6 90047956 90047956 G A rs35213866 UBE2J1 Synonymous SNV Y132Y 0.013 0.021 0.01 6 15 8 0.015 3 0 0 0 0 4.205 48632 chr7 1024855 1024855 G A rs3735684 CYP2W1 Nonsynonymous SNV A181T 0.083 0.109 0.095 31 97 42 0.079 28 3 2 2 3 1.855 48633 chr6 76624538 76624538 G A rs41269323 MYO6 Nonsynonymous SNV D1191N 0.01 0.016 0.027 9 12 6 0.023 8 0 0 0 0 Conflicting interpretations of pathogenicity 34 48634 chr6 3118987 3118987 C T rs943190901 BPHL Synonymous SNV L5L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.49 48635 chr6 32629920 32629920 C T rs41544112 HLA-DQB1 Nonsynonymous SNV R162Q 0.098 0.089 0.088 24 115 34 0.062 26 46 13 10 9 16.54 48636 chr6 78172260 78172260 C G rs6296 HTR1B Synonymous SNV V287V 0.245 0.247 0.272 107 288 95 0.274 80 32 15 9 14 10.88 48637 chr6 78172992 78172992 G A rs6298 HTR1B Synonymous SNV S43S 0.245 0.247 0.272 107 288 95 0.274 80 32 15 9 14 7.235 48638 chr6 32632601 32632601 G C rs9274380 HLA-DQB1 Nonsynonymous SNV A118G 0.098 0.089 0.088 24 115 34 0.062 26 46 13 10 9 2.54 48639 chr6 32632650 32632650 C T rs1130386 HLA-DQB1 Nonsynonymous SNV G102R 0.149 0.12 0.119 40 175 46 0.103 35 72 19 14 15 0.427 48640 chr6 79692751 79692751 G A rs11547228 PHIP Nonsynonymous SNV T874I 0.107 0.078 0.092 37 126 30 0.095 27 4 0 0 0 16.22 48641 chr7 106509331 106509331 C A rs17847825 PIK3CG Nonsynonymous SNV S442Y 0.109 0.081 0.119 42 128 31 0.108 35 8 1 2 2 23.2 48642 chr6 549177 549177 G T rs757060314 EXOC2 Nonsynonymous SNV Q746K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 48643 chr6 32632777 32632777 C T rs1049068 HLA-DQB1 Synonymous SNV V59V 0.146 0.125 0.105 70 171 48 0.179 31 72 20 13 30 8.38 48644 chr7 106524689 106524689 C T rs2230460 PIK3CG Synonymous SNV D950D 0.108 0.081 0.119 41 127 31 0.105 35 8 1 2 2 13.41 48645 chr6 32632832 32632832 A T rs9274407 HLA-DQB1 Nonsynonymous SNV F41Y 0.168 0.143 0.109 78 197 55 0.2 32 94 27 15 37 0.001 48646 chr6 80741243 80741243 A T rs1801465 TTK Synonymous SNV I526I 0.124 0.099 0.167 62 145 38 0.159 49 20 3 7 11 1.046 48647 chr6 55925801 55925801 G T rs9464337 COL21A1 Nonsynonymous SNV A145D 0.021 0.016 0.024 8 25 6 0.021 7 0 0 0 0 8.121 48648 chr7 107615506 107615506 C T rs11770141 LAMB1 Synonymous SNV G469G 0.103 0.094 0.088 38 121 36 0.097 26 7 3 0 1 Benign 15.55 48649 chr6 83074937 83074937 A G rs144253219 TPBG Nonsynonymous SNV T87A 0.047 0.034 0.037 18 55 13 0.046 11 0 0 1 0 0.105 48650 chr6 96985311 96985311 T C rs55792562 UFL1 Synonymous SNV Y288Y 0.041 0.039 0.024 9 48 15 0.023 7 0 0 0 0 0.071 48651 chr7 107626770 107626770 G A rs25659 LAMB1 Synonymous SNV S154S 0.129 0.104 0.119 43 152 40 0.11 35 10 3 1 1 Benign 15.09 48652 chr7 107671407 107671407 C G rs2528693 LAMB4 Nonsynonymous SNV R1612S 0.068 0.06 0.065 25 80 23 0.064 19 4 1 1 3 0.5 48653 chr7 107677984 107677984 G A rs1627354 LAMB4 Nonsynonymous SNV H1510Y 0.078 0.076 0.088 32 91 29 0.082 26 4 2 2 4 6.574 48654 chr6 26087856 26087856 T A rs2858993 LOC108783645 0.092 0.096 0.364 30 108 37 0.077 107 39 14 20 12 6.565 48655 chr7 107689844 107689844 G T rs10260756 LAMB4 Nonsynonymous SNV T1350N 0.043 0.042 0.048 13 50 16 0.033 14 1 0 1 0 0.436 48656 chr6 33651129 33651129 C T rs942636 ITPR3 Synonymous SNV P1581P 0.144 0.161 0.156 56 169 62 0.144 46 5 4 2 4 12.66 48657 chr6 56819253 56819253 C T rs139905357 DST Nonsynonymous SNV G45R 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.6 48658 chr7 107696289 107696289 C T rs17154865 LAMB4 Synonymous SNV Q1181Q 0.042 0.042 0.048 13 49 16 0.033 14 1 0 1 0 10.28 48659 chr7 107720162 107720162 C A rs9690688 LAMB4 Nonsynonymous SNV V591F 0.079 0.073 0.078 21 93 28 0.054 23 5 2 1 3 25.2 48660 chr7 1097952 1097952 C T rs6953080 GPR146 Synonymous SNV D267D 0.083 0.104 0.082 31 97 40 0.079 24 4 3 2 1 8.361 48661 chr7 111977790 111977790 G C rs760372336 ZNF277 Nonsynonymous SNV W292S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 33 48662 chr6 34499387 34499387 T C rs149949488 PACSIN1 Nonsynonymous SNV Y350H 0.002 0 0 0 2 0 0 0 0 0 0 0 18.93 48663 chr7 1131411 1131411 C T rs11544331 GPER1 Nonsynonymous SNV P16L 0.267 0.279 0.303 112 313 107 0.287 89 30 13 11 18 1.972 48664 chr6 99729213 99729213 T C rs140876247 FAXC Nonsynonymous SNV K232E 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 15.76 48665 chr7 1132456 1132456 C T rs10246354 GPER1 Synonymous SNV T364T 0.261 0.258 0.316 107 306 99 0.274 93 30 11 13 16 0.615 48666 chr6 54002231 54002231 A C rs2754779 MLIP Nonsynonymous SNV E444A 0.218 0.201 0.279 81 256 77 0.208 82 28 10 12 12 0.033 48667 chr7 114582433 114582433 G A rs138487145 MDFIC Synonymous SNV S66S 0.011 0.013 0.01 10 13 5 0.026 3 0 0 0 0 Likely benign 10.12 48668 chr19 5225802 5225802 G A rs10415592 PTPRS Synonymous SNV A788A 0.05 0.065 0.061 25 59 25 0.064 18 2 0 1 1 16.07 48669 chr7 11521542 11521542 T C rs3735502 THSD7A Synonymous SNV P630P 0.229 0.172 0.194 113 269 66 0.29 57 20 5 9 19 0.01 48670 chr11 19735746 19735746 C T rs7943700 LOC100126784 0 0 0.068 0 0 0 0 20 0 0 1 0 10.98 48671 chr6 54804798 54804798 T C rs9370340 FAM83B Synonymous SNV Y343Y 0.022 0.023 0.048 16 26 9 0.041 14 0 0 0 0 0.001 48672 chr6 35107820 35107820 T A rs113669475 TCP11 Synonymous SNV S9S 0.01 0.023 0.014 1 12 9 0.003 4 0 0 0 0 3.798 48673 chr19 15918654 15918654 G A rs4808382 OR10H1 Nonsynonymous SNV A65V 0.101 0.089 0.109 26 118 34 0.067 32 1 1 0 0 Benign 3.591 48674 chr7 11675855 11675855 C T rs61996273 THSD7A Synonymous SNV R308R 0.116 0.089 0.085 37 136 34 0.095 25 7 2 1 2 14.79 48675 chr6 71377781 71377781 C A rs112439957 SMAP1 Nonsynonymous SNV L19I 0.029 0.013 0.007 9 34 5 0.023 2 0 0 0 0 23.5 48676 chr7 100204137 100204137 G A rs112285224 PCOLCE Nonsynonymous SNV R275Q 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 22.7 48677 chr19 6306857 6306857 C T rs76925618 ACER1 Nonsynonymous SNV M221I 0.017 0.018 0.014 6 20 7 0.015 4 0 0 0 0 Likely benign 2.406 48678 chr7 117188750 117188750 C T rs201880593 CFTR Nonsynonymous SNV S422F 0.011 0.026 0.003 2 13 10 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.07 48679 chr7 100283914 100283914 T C rs143725633 GIGYF1 Synonymous SNV R279R 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 0.009 48680 chr7 117235052 117235052 T C rs1800104 CFTR Synonymous SNV I853I 0.02 0.016 0 6 24 6 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.461 48681 chr6 96034844 96034844 C T rs62619206 MANEA Nonsynonymous SNV R177C 0.06 0.044 0.051 19 71 17 0.049 15 2 0 0 1 22.5 48682 chr7 117243826 117243826 G A rs1800109 CFTR Synonymous SNV T966T 0.015 0.003 0.007 2 18 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.9 48683 chr7 11871496 11871496 - GCAGCT rs748972424 THSD7A L25_L26insQL 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 48684 chr6 96054262 96054262 G A rs75510775 MANEA Nonsynonymous SNV R457H 0.06 0.044 0.051 19 71 17 0.049 15 2 0 0 1 9.044 48685 chr11 2017017 2017017 A C rs2839702 H19 0 0 0.452 0 0 0 0 133 0 0 34 0 3.42 48686 chr6 3284094 3284094 C T rs114632171 SLC22A23 Synonymous SNV T284T 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 Benign 16.22 48687 chr11 2017110 2017110 C G rs2839701 H19 0 0 0.463 0 0 0 0 136 0 0 34 0 3.254 48688 chr11 2018168 2018168 C T rs2067051 H19 0 0 0.463 0 0 0 0 136 0 0 34 0 7.324 48689 chr6 36463627 36463627 C T rs2071809 STK38 Synonymous SNV T444T 0.042 0.039 0.027 10 49 15 0.026 8 2 0 0 0 13.18 48690 chr11 2018336 2018336 A T rs2075745 H19 0 0 0.469 0 0 0 0 138 0 0 37 0 2.823 48691 chr11 2018449 2018449 A G rs2075744 H19 0 0 0.48 0 0 0 0 141 0 0 37 0 6.264 48692 chr11 2018853 2018853 G A rs2839698 H19 0 0 0.483 0 0 0 0 142 0 0 38 0 5.003 48693 chr6 64394066 64394066 A G rs41271581 PHF3 Nonsynonymous SNV K60R 0.016 0.013 0.007 8 19 5 0.021 2 1 0 0 1 Benign 23.2 48694 chr7 121753711 121753711 A G rs61750983 AASS Synonymous SNV C369C 0.012 0.01 0.003 3 14 4 0.008 1 0 0 0 0 Benign 9.256 48695 chr19 6718146 6718146 T G rs147859257 C3 Nonsynonymous SNV K155Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.731 48696 chr6 24780944 24780944 A C rs2307300 GMNN Synonymous SNV G35G 0.022 0.018 0.02 4 26 7 0.01 6 1 0 0 0 3.559 48697 chr19 16790859 16790859 C T rs730120 TMEM38A Synonymous SNV F63F 0.06 0.055 0.068 37 71 21 0.095 20 1 0 1 1 13.65 48698 chr6 99857145 99857153 CTGGAGGTC - rs570196263 PNISR G190_P192del 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 48699 chr6 66042231 66042231 T G rs12207746 EYS Nonsynonymous SNV I616L 0.073 0.065 0.058 20 86 25 0.051 17 3 2 0 0 4.019 48700 chr6 37664563 37664563 G A rs193136982 MDGA1 Synonymous SNV L9L 0.007 0 0.003 0 8 0 0 1 0 0 0 0 11.35 48701 chr7 123514896 123514896 G T rs6949082 HYAL4 Nonsynonymous SNV A346S 0.172 0.172 0.173 67 202 66 0.172 51 19 6 4 5 10.21 48702 chr6 7565727 7565727 A T rs17604693 DSP Nonsynonymous SNV I305F 0.03 0.023 0.037 13 35 9 0.033 11 0 0 0 0 Benign/Likely benign 27.8 48703 chr6 38702283 38702283 G A rs200815756 DNAH8 Nonsynonymous SNV G215E 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 17.06 48704 chr6 25727448 25727448 G A rs16890972 HIST1H2BA Synonymous SNV L104L 0.012 0.021 0.007 3 14 8 0.008 2 1 0 0 0 1.244 48705 chr6 7581641 7581641 G A rs142885240 DSP Nonsynonymous SNV E1740K 0.014 0.018 0.007 2 16 7 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.62 48706 chr6 25777065 25777065 C T rs144139612 SLC17A4 Synonymous SNV L382L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 15.37 48707 chr6 38805735 38805735 G A rs145272110 DNAH8 Synonymous SNV L1244L 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 Benign 6.079 48708 chr6 38854646 38854646 T C rs142328376 DNAH8 Nonsynonymous SNV I2563T 0.011 0.005 0.003 4 13 2 0.01 1 0 0 0 0 Benign 26.4 48709 chr19 17008728 17008728 T A rs199549659 CPAMD8 Synonymous SNV P1642P 0.009 0.01 0.003 3 10 4 0.008 1 0 0 0 0 14.76 48710 chr7 100171788 100171788 C A rs73711136 ZASP Nonsynonymous SNV R131L 0.091 0.065 0.061 29 107 25 0.074 18 4 0 0 0 9.997 48711 chr7 100180060 100180060 G A rs34440977 LRCH4 Synonymous SNV P81P 0.09 0.065 0.058 29 106 25 0.074 17 4 0 0 0 12.79 48712 chr6 35259397 35259397 C T rs33959228 ZNF76 Nonsynonymous SNV R272C 0.01 0.016 0.01 3 12 6 0.008 3 0 0 0 0 30 48713 chr7 127222157 127222157 G A rs3735644 GCC1 Synonymous SNV L747L 0.203 0.216 0.184 80 238 83 0.205 54 21 4 4 6 3.169 48714 chr6 26056399 26056399 G A rs61748580 H1-2 Synonymous SNV S86S 0.017 0.026 0.003 5 20 10 0.013 1 0 0 0 0 0.483 48715 chr7 127224286 127224286 A G rs3735642 GCC1 Synonymous SNV D317D 0.215 0.229 0.18 83 252 88 0.213 53 26 4 4 7 0.789 48716 chr6 26056477 26056477 A C rs41266787 H1-2 Synonymous SNV A60A 0.017 0.026 0.003 5 20 10 0.013 1 0 0 0 0 0.003 48717 chr7 127953243 127953243 T C rs7804796 RBM28 Synonymous SNV Q569Q 0.076 0.076 0.061 23 89 29 0.059 18 2 0 0 1 0.068 48718 chr6 26199454 26199454 C T rs41266803 HIST1H2AD Synonymous SNV K6K 0.086 0.107 0.058 32 101 41 0.082 17 2 3 0 2 9.097 48719 chr7 128394606 128394606 C T rs2307040 CALU Nonsynonymous SNV A82V 0.402 0.385 0.401 157 472 148 0.403 118 89 28 21 26 14.12 48720 chr7 128415195 128415195 T G rs1799922 OPN1SW Synonymous SNV G122G 0.397 0.385 0.401 165 466 148 0.423 118 88 30 24 30 10.73 48721 chr19 7614888 7614888 C G rs62111288 PNPLA6 Synonymous SNV P568P 0.014 0.016 0.01 8 17 6 0.021 3 0 0 0 0 Benign 10.26 48722 chr6 26205052 26205052 G A rs61910695 HIST1H4E Synonymous SNV K60K 0.097 0.117 0.071 37 114 45 0.095 21 4 5 0 2 9.816 48723 chr6 26216584 26216584 C T rs16891427 HIST1H2BG Synonymous SNV Q96Q 0.096 0.115 0.068 37 113 44 0.095 20 4 4 0 2 9.966 48724 chr19 7688649 7688649 G C XAB2 Nonsynonymous SNV R363G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 29 48725 chr7 128475624 128475624 C T rs143942649 FLNC Synonymous SNV A199A 0.008 0.01 0.007 6 9 4 0.015 2 0 0 0 0 Benign/Likely benign 12.06 48726 chr7 128477472 128477472 T C rs2291560 FLNC Synonymous SNV I240I 0.105 0.091 0.071 43 123 35 0.11 21 5 4 1 3 Benign 0.305 48727 chr6 26240752 26240752 C T rs16891477 HIST1H4F Synonymous SNV P33P 0.091 0.094 0.065 33 107 36 0.085 19 3 2 0 1 12.49 48728 chr7 128477547 128477547 T C rs2291561 FLNC Synonymous SNV G265G 0.105 0.091 0.071 43 123 35 0.11 21 5 4 1 3 Benign 3.527 48729 chr6 72974683 72974683 T C rs368839251 RIMS1 Nonsynonymous SNV L514P 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 13.54 48730 chr7 128484816 128484816 A G rs3734973 FLNC Synonymous SNV V1099V 0.159 0.133 0.109 66 187 51 0.169 32 15 6 5 5 Benign 1.414 48731 chr7 128488734 128488734 G A rs2291569 FLNC Nonsynonymous SNV R1567Q 0.095 0.083 0.051 36 111 32 0.092 15 4 4 1 2 Benign 25 48732 chr7 100550286 100550286 T C rs370230558 MUC3A Synonymous SNV T289T 0.122 0.133 0.037 50 143 51 0.128 11 0 0 0 0 0.476 48733 chr6 41001868 41001868 G T rs147669667 UNC5CL Nonsynonymous SNV D146E 0.022 0.018 0.024 6 26 7 0.015 7 0 0 0 0 23.4 48734 chr6 41129216 41129216 G A TREM2 Nonsynonymous SNV P59L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.709 48735 chr7 100550291 100550291 C G rs71540917 MUC3A Nonsynonymous SNV T291S 0.144 0.151 0.031 57 169 58 0.146 9 0 0 0 0 0.001 48736 chr6 36341294 36341294 C T rs3213530 ETV7 Synonymous SNV G68G 0.097 0.107 0.088 40 114 41 0.103 26 8 2 2 2 14.49 48737 chr6 41162562 41162562 G C rs61734887 TREML2 Nonsynonymous SNV T129S 0.037 0.031 0.044 9 44 12 0.023 13 1 0 0 0 15.63 48738 chr6 74123735 74123735 A G rs969850391 DDX43 Synonymous SNV S513S 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 11.68 48739 chr7 128852021 128852021 C G rs116640950 SMO Nonsynonymous SNV P698R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 7.387 48740 chr6 27114910 27114910 G A rs36043209 H2AC12 Star tloss M1I 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 22.5 48741 chr19 17367354 17367354 G A rs141680124 USHBP1 Synonymous SNV L402L 0.011 0.003 0.027 9 13 1 0.023 8 0 0 1 0 8.803 48742 chr6 84417629 84417629 G C rs61739350 SNAP91 Synonymous SNV L6L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 10.54 48743 chr6 27277665 27277665 G A rs2281023 POM121L2 Nonsynonymous SNV P762L 0.029 0.036 0.041 9 34 14 0.023 12 0 0 0 0 22.6 48744 chr19 17397497 17397497 G T rs56209027 ANKLE1 Synonymous SNV V589V 0.018 0.013 0.003 6 21 5 0.015 1 0 0 0 0 3.082 48745 chr6 41318424 41318424 T A rs2273961 NCR2 Nonsynonymous SNV I218K 0.059 0.07 0.051 21 69 27 0.054 15 3 2 1 0 9.273 48746 chr19 8121369 8121369 C T rs1129763 CCL25 Nonsynonymous SNV T104M 0.101 0.076 0.109 43 118 29 0.11 32 10 1 3 1 2.853 48747 chr6 27279632 27279632 C A rs16897557 POM121L2 Nonsynonymous SNV W106C 0.003 0.01 0.014 2 4 4 0.005 4 0 0 0 0 27.1 48748 chr6 27368945 27368945 G T ZNF391 Stop gain E266X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 48749 chr19 17445470 17445470 C T rs200336282 ANO8 Nonsynonymous SNV A4T 0.007 0.003 0.017 8 8 1 0.021 5 0 0 0 0 21.5 48750 chr11 284341 284341 G A rs7108246 NLRP6 Synonymous SNV A770A 0.048 0.055 0.044 18 56 21 0.046 13 2 1 0 1 5.18 48751 chr6 87797904 87797904 T C rs6155 CGA Synonymous SNV R5R 0.023 0.029 0.017 10 27 11 0.026 5 0 0 0 0 0.007 48752 chr6 37138079 37138079 C T rs192449585 PIM1 Synonymous SNV L1L 0.003 0.01 0 0 4 4 0 0 0 0 0 0 8.027 48753 chr7 100549967 100549967 C T rs73714231 MUC3A Nonsynonymous SNV T183M 0.184 0.18 0.177 69 216 69 0.177 52 0 0 0 0 18.08 48754 chr6 7576619 7576619 G A rs142494121 DSP Nonsynonymous SNV R908H 0.01 0.01 0 2 12 4 0.005 0 0 1 0 0 Conflicting interpretations of pathogenicity 34 48755 chr6 41899165 41899165 G A rs41273804 BYSL Nonsynonymous SNV A246T 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 28.1 48756 chr7 130022041 130022041 C T rs968404 CPA1 Synonymous SNV Y158Y 0.187 0.167 0.167 76 219 64 0.195 49 18 7 7 8 Benign 7.409 48757 chr7 130023539 130023539 C T rs12706927 CPA1 Synonymous SNV Y200Y 0.15 0.161 0.153 55 176 62 0.141 45 7 6 5 3 Benign 6.695 48758 chr7 130418525 130418525 G A rs76603546 KLF14 Synonymous SNV S112S 0.395 0.344 0.435 165 464 132 0.423 128 118 27 32 41 14.42 48759 chr7 131196062 131196062 C T rs17744792 PODXL Synonymous SNV S77S 0.261 0.294 0.221 104 307 113 0.267 65 42 15 7 17 13.3 48760 chr7 131817850 131817850 T C rs75848889 PLXNA4 Synonymous SNV A1849A 0.141 0.112 0.163 56 166 43 0.144 48 13 1 1 3 2.467 48761 chr6 28331094 28331094 G A rs17856167 ZKSCAN3 Nonsynonymous SNV V41M 0.049 0.055 0.065 12 58 21 0.031 19 0 0 0 2 5.371 48762 chr11 3242833 3242833 G C rs7929163 MRGPRG-AS1 0 0 0.531 0 0 0 0 156 0 0 54 0 0.497 48763 chr11 3242907 3242907 G A rs11602794 MRGPRG-AS1 0 0 0.425 0 0 0 0 125 0 0 32 0 1.841 48764 chr6 42072728 42072728 C G rs747791855 C6orf132 Nonsynonymous SNV R974S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.67 48765 chr11 3242933 3242933 C T rs10833491 MRGPRG-AS1 0 0 0.588 0 0 0 0 173 0 0 55 0 5.673 48766 chr11 3243346 3243346 C T rs11026004 MRGPRG-AS1 0 0 0.595 0 0 0 0 175 0 0 58 0 6.03 48767 chr6 38750888 38750888 A G rs3823430 DNAH8 Nonsynonymous SNV I573V 0.101 0.109 0.105 48 119 42 0.123 31 4 0 0 3 3.494 48768 chr11 3243367 3243367 G T rs12280457 MRGPRG-AS1 0 0 0.585 0 0 0 0 172 0 0 58 0 1.922 48769 chr7 133979795 133979795 T C rs1421484 SLC35B4 Synonymous SNV T262T 0.434 0.419 0.422 168 509 161 0.431 124 108 32 25 36 0.09 48770 chr7 100550510 100550510 A T rs796842434 MUC3A Nonsynonymous SNV E364V 0.263 0.263 0 104 309 101 0.267 0 0 0 0 0 1.992 48771 chr6 28359073 28359073 A G rs2232432 ZSCAN12 Nonsynonymous SNV C332R 0.011 0.026 0.014 4 13 10 0.01 4 0 0 0 0 25.1 48772 chr6 38800164 38800164 G A rs9357283 DNAH8 Nonsynonymous SNV E1202K 0.1 0.107 0.129 44 117 41 0.113 38 5 0 0 2 15.4 48773 chr7 100550602 100550602 T A rs80036331 MUC3A Nonsynonymous SNV S395T 0.205 0.198 0.133 81 241 76 0.208 39 0 0 0 0 3.967 48774 chr7 100550607 100550607 C A rs77396152 MUC3A Synonymous SNV S396S 0.2 0.193 0.088 77 235 74 0.197 26 0 0 0 0 0.371 48775 chr11 32460676 32460676 C T rs34163689 WT1-AS 0 0 0.133 0 0 0 0 39 0 0 4 0 8.863 48776 chr7 100550619 100550619 C T rs78047302 MUC3A Synonymous SNV P400P 0.18 0.19 0.088 66 211 73 0.169 26 0 0 0 0 6.075 48777 chr7 100550625 100550625 - ACT rs200551861 MUC3A F402_S403insT 0.302 0.32 0.088 116 354 123 0.297 26 0 0 0 0 48778 chr7 100550630 100550630 - A rs879601056 MUC3A Frameshift insertion S405Ifs*142 0.299 0.318 0.088 117 351 122 0.3 26 0 0 0 0 48779 chr7 100550632 100550632 - CG rs879357469 MUC3A Frameshift insertion T406Qfs*52 0.298 0.315 0.088 117 350 121 0.3 26 0 0 0 0 48780 chr7 100550639 100550644 TCTACT - MUC3A I407_S409delinsT 0.298 0.315 0.088 117 350 121 0.3 26 0 0 0 0 48781 chr7 100550646 100550646 - GAG rs879539337 MUC3A S409_T410insE 0.298 0.315 0.088 117 350 121 0.3 26 0 0 0 0 48782 chr7 100550649 100550651 AGT - MUC3A V411del 0.298 0.315 0.088 117 350 121 0.3 26 0 0 0 0 48783 chr6 38851669 38851669 C T rs4714192 DNAH8 Synonymous SNV Y2501Y 0.173 0.182 0.197 74 203 70 0.19 58 24 7 4 6 Benign 13.52 48784 chr7 100551061 100551061 C A rs569409437 MUC3A Nonsynonymous SNV P548T 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 4.112 48785 chr7 100551065 100551065 T C rs78250618 MUC3A Nonsynonymous SNV L549S 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 3.512 48786 chr6 32605284 32605284 G A rs12722039 HLA-DQA1 Nonsynonymous SNV V17M 0.155 0.177 0.16 66 182 68 0.169 47 72 26 19 27 0.026 48787 chr6 32605295 32605295 C T rs1129735 HLA-DQA1 Synonymous SNV P20P 0.113 0.138 0.139 58 133 53 0.149 41 51 20 18 23 8.115 48788 chr6 32605309 32605309 A G rs12722042 HLA-DQA1 Nonsynonymous SNV D25G 0.153 0.177 0.173 66 180 68 0.169 51 71 26 21 27 13.28 48789 chr6 39688534 39688534 T C rs34016507 KIF6 Synonymous SNV L40L 0.013 0.021 0.017 4 15 8 0.01 5 0 0 0 0 3.557 48790 chr6 32610437 32610437 G A rs35087390 HLA-DQA1 Nonsynonymous SNV A222T 0.112 0.133 0.15 58 132 51 0.149 44 51 19 19 23 14.5 48791 chr19 18273013 18273013 G A rs28730848 PIK3R2 Synonymous SNV A301A 0.04 0.042 0.034 22 47 16 0.056 10 2 0 1 1 Benign 12.89 48792 chr6 32628660 32628660 T C rs28688207 HLA-DQB1 0.169 0.174 0.18 74 198 67 0.19 53 80 27 24 31 6.384 48793 chr6 42893415 42893415 G A rs61743125 PTCRA Nonsynonymous SNV A174T 0.018 0.01 0.024 9 21 4 0.023 7 0 0 1 0 22.9 48794 chr6 84884494 84884494 - TCCTGTTGTTTCTTTAGTTCTTCCAACTTATTTTCTAGTTCTTTC rs539790644 CEP162 L586_F587insENKLEELKKQQEKEL 0.048 0.044 0.034 15 56 17 0.038 10 1 2 1 1 48795 chr6 4074822 4074822 C A rs77132955 FAM217A Nonsynonymous SNV G45V 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 21.9 48796 chr6 42933066 42933066 T C rs759682469 PEX6 Nonsynonymous SNV S838G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.45 48797 chr11 36440836 36440836 A G rs11555379 PRR5L Nonsynonymous SNV I12V 0.01 0.016 0.02 3 12 6 0.008 6 0 0 0 0 23.8 48798 chr6 43096983 43096983 C T rs141130398 PTK7 Synonymous SNV N124N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.74 48799 chr6 43230970 43230970 G C rs3800294 TTBK1 Nonsynonymous SNV G623A 0.271 0.318 0.33 108 318 122 0.277 97 43 15 14 12 0.039 48800 chr7 100550595 100550595 T C rs80315860 MUC3A Synonymous SNV T392T 0.086 0.086 0.088 49 101 33 0.126 26 0 0 0 0 0.039 48801 chr7 100550596 100550596 G A rs74991890 MUC3A Nonsynonymous SNV E393K 0.089 0.089 0.088 50 104 34 0.128 26 0 0 0 0 1.674 48802 chr6 41898384 41898384 G A BYSL Synonymous SNV K194K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.09 48803 chr7 139138929 139138929 T C rs199708788 KLRG2 Nonsynonymous SNV H346R 0.004 0 0 0 5 0 0 0 0 0 0 0 1.445 48804 chr19 19329924 19329924 C T rs2228603 NCAN Nonsynonymous SNV P92S 0.034 0.036 0.034 14 40 14 0.036 10 0 0 1 0 23.6 48805 chr7 139138950 139138950 C G rs17160911 KLRG2 Nonsynonymous SNV G339A 0.09 0.102 0.105 36 106 39 0.092 31 10 5 4 3 15.85 48806 chr6 32632717 32632717 G A rs1049073 HLA-DQB1 Synonymous SNV Y79Y 0.165 0.169 0.177 69 194 65 0.177 52 82 26 24 31 0.406 48807 chr19 19379549 19379549 C T rs58542926 TM6SF2 Nonsynonymous SNV E167K 0.037 0.034 0.051 20 43 13 0.051 15 0 0 1 0 23.2 48808 chr6 43418834 43418834 G C rs149484687 DLK2 Nonsynonymous SNV L162V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 11.69 48809 chr7 100016781 100016781 T C rs141450215 ZCWPW1 Nonsynonymous SNV E105G 0.015 0.016 0.017 14 18 6 0.036 5 0 0 0 0 27 48810 chr19 20228941 20228941 A G rs61998186 ZNF90 Nonsynonymous SNV K193R 0.046 0.065 0.031 19 54 25 0.049 9 5 0 0 0 0.006 48811 chr7 140125750 140125750 T C rs2948386 RAB19 Nonsynonymous SNV Y152H 0.267 0.24 0.259 81 314 92 0.208 76 36 8 8 17 4.174 48812 chr19 20808143 20808143 T G rs73002662 ZNF626 Nonsynonymous SNV K180N 0.155 0.138 0.078 59 182 53 0.151 23 15 4 3 2 21.2 48813 chr6 42932835 42932835 C T rs2274516 PEX6 Nonsynonymous SNV V882I 0.013 0.023 0.01 12 15 9 0.031 3 0 0 0 0 Benign 12.36 48814 chr19 20808374 20808374 A G rs61741861 ZNF626 Synonymous SNV Y103Y 0.155 0.138 0.014 59 182 53 0.151 4 15 4 1 2 0.003 48815 chr6 42981051 42981051 C G rs35628750 MEA1 Nonsynonymous SNV E22D 0.012 0.023 0.01 12 14 9 0.031 3 0 0 0 0 23.4 48816 chr19 20828522 20828522 A G rs8106117 ZNF626 Nonsynonymous SNV M65T 0.129 0.094 0.095 50 151 36 0.128 28 12 1 2 3 1.858 48817 chr11 43919778 43919778 C T rs2434474 SEC14L1P1 0 0 0.565 0 0 0 0 166 0 0 49 0 5.284 48818 chr11 43919786 43919786 C G rs2460131 SEC14L1P1 0 0 0.565 0 0 0 0 166 0 0 50 0 4.08 48819 chr6 33703106 33703106 A G IP6K3 Nonsynonymous SNV F50L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 48820 chr7 141837340 141837340 T C rs77600046 MGAM2 Synonymous SNV L319L 0.015 0.021 0.017 8 18 8 0.021 5 1 1 0 0 5.975 48821 chr6 43014022 43014022 G A rs61732148 CUL7 Nonsynonymous SNV A955V 0.012 0.023 0.014 12 14 9 0.031 4 0 0 0 0 Benign 24.1 48822 chr6 45459817 45459817 T C RUNX2 Synonymous SNV S261S 0.017 0.005 0 0 20 2 0 0 0 0 0 0 4.649 48823 chr6 34498108 34498108 C A PACSIN1 Nonsynonymous SNV P293T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 48824 chr7 100465824 100465824 G A rs2437100 TRIP6 Nonsynonymous SNV R111Q 0.021 0.008 0.01 6 25 3 0.015 3 1 0 0 0 24.1 48825 chr7 142479912 142479912 C G rs200484890 PRSS3P2 0.187 0.195 0.01 86 219 75 0.221 3 0 0 0 0 9.446 48826 chr6 43029288 43029288 G A rs11558979 KLC4 Nonsynonymous SNV R72H 0.014 0.023 0.017 12 16 9 0.031 5 0 0 0 0 25.4 48827 chr7 142479917 142479917 C T rs369591097 PRSS3P2 0.169 0.177 0.007 76 198 68 0.195 2 0 0 0 0 11.05 48828 chr19 21606390 21606390 G A rs112511886 ZNF493 Nonsynonymous SNV G182E 0.025 0.029 0.027 8 29 11 0.021 8 0 0 1 0 0.001 48829 chr6 43039951 43039951 T C rs61733494 KLC4 Synonymous SNV A405A 0.014 0.023 0.017 12 16 9 0.031 5 0 0 0 0 7.89 48830 chr19 21720803 21720803 C T rs2562473 ZNF429 Nonsynonymous SNV H586Y 0.183 0.174 0.112 69 215 67 0.177 33 24 5 9 4 0.002 48831 chr6 43252952 43252952 C T rs759066423 TTBK1 Synonymous SNV P1268P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.728 48832 chr7 142724062 142724062 C T rs9885986 OR9A2 Nonsynonymous SNV R53H 0.101 0.109 0.136 37 118 42 0.095 40 6 1 4 1 11.35 48833 chr19 23406742 23406742 T G rs117473206 ZNF724 Nonsynonymous SNV K102T 0.061 0.076 0.058 35 72 29 0.09 17 1 0 1 1 0.051 48834 chr6 43323852 43323852 C A rs34541323 ZNF318 Nonsynonymous SNV S407I 0.055 0.068 0.037 23 65 26 0.059 11 2 1 1 0 25.9 48835 chr7 142749737 142749737 C T rs17164103 OR6V1 Synonymous SNV Y100Y 0.111 0.115 0.139 43 130 44 0.11 41 6 1 3 1 8.642 48836 chr7 142749953 142749953 C T rs11975892 OR6V1 Synonymous SNV I172I 0.317 0.315 0.313 122 372 121 0.313 92 61 17 16 20 8.701 48837 chr7 142750147 142750147 C T rs10245778 OR6V1 Nonsynonymous SNV S237F 0.112 0.115 0.133 43 131 44 0.11 39 6 1 3 1 26.2 48838 chr6 43412865 43412865 T C rs2125739 ABCC10 Nonsynonymous SNV I920T 0.256 0.271 0.241 96 300 104 0.246 71 46 15 10 9 14.45 48839 chr19 23836319 23836319 T A rs775574278 ZNF675 Nonsynonymous SNV K472N 0 0 0 0 0 0 0 0 0 0 0 0 13.2 48840 chr11 45928419 45928422 CCAT - rs551758515 C11orf94 D59del 0 0 0.003 0 0 0 0 1 0 0 0 0 48841 chr7 142836203 142836203 A T rs73170678 PIP Nonsynonymous SNV Q79H 0.096 0.115 0.102 53 113 44 0.136 30 4 3 4 7 0.029 48842 chr6 43418691 43418691 G A rs1214748 DLK2 Synonymous SNV T209T 0.3 0.32 0.303 111 352 123 0.285 89 53 23 13 13 7.617 48843 chr6 35705100 35705100 C G rs774432540 ARMC12 Nonsynonymous SNV P72R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 48844 chr7 142919731 142919731 C A rs10260248 TAS2R40 Nonsynonymous SNV S187Y 0.087 0.089 0.088 28 102 34 0.072 26 2 1 2 0 6.845 48845 chr6 43418733 43418733 G A rs1214749 DLK2 Synonymous SNV H195H 0.299 0.32 0.303 111 351 123 0.285 89 53 23 13 13 4.325 48846 chr11 45949746 45949746 A C rs11038714 LARGE2 Synonymous SNV R591R 0.083 0.099 0.092 36 97 38 0.092 27 3 2 4 1 0.476 48847 chr6 44197131 44197131 A G SLC29A1 Nonsynonymous SNV K38E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 48848 chr11 46407306 46407306 G A rs747938778 CHRM4 Nonsynonymous SNV R268C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 48849 chr19 33095258 33095258 C T rs146477835 ANKRD27 Nonsynonymous SNV V856I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.39 48850 chr19 9061111 9061111 T C rs74364248 MUC16 Nonsynonymous SNV T8779A 0.02 0.018 0.027 9 23 7 0.023 8 0 0 0 0 0.008 48851 chr7 143771408 143771408 G C rs59319753 OR2A25 Synonymous SNV L32L 0.221 0.214 0.228 91 260 82 0.233 67 21 9 6 13 3.733 48852 chr6 4892081 4892081 C T rs61749071 CDYL Synonymous SNV H53H 0.014 0.026 0.01 10 16 10 0.026 3 0 0 0 0 10.91 48853 chr7 143807515 143807515 T G rs2961149 OR2A2 Nonsynonymous SNV F280L 0.394 0.367 0.429 152 462 141 0.39 126 82 25 26 30 4.356 48854 chr19 33349351 33349351 C T rs61730903 SLC7A9 Synonymous SNV A324A 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Uncertain significance 18.35 48855 chr6 46593224 46593224 A G rs17856332 CYP39A1 Nonsynonymous SNV Y116H 0.019 0.01 0.031 7 22 4 0.018 9 2 0 1 0 12.37 48856 chr7 143807518 143807518 T C rs2951315 OR2A2 Synonymous SNV N281N 0.394 0.367 0.429 152 462 141 0.39 126 82 25 26 30 0.012 48857 chr6 49415448 49415448 C T rs2229385 MMUT Nonsynonymous SNV A499T 0.112 0.104 0.112 44 131 40 0.113 33 8 7 4 4 Benign/Likely benign 15.97 48858 chr7 100647511 100647511 C T rs78837976 MUC12 Nonsynonymous SNV T4556I 0.002 0 0 0 2 0 0 0 1 0 0 0 5.516 48859 chr7 100647539 100647539 C T rs79635145 MUC12 Synonymous SNV S4565S 0.01 0.016 0 2 12 6 0.005 0 4 3 0 1 Benign 3.139 48860 chr7 100647548 100647548 G C rs73402837 MUC12 Nonsynonymous SNV L4568F 0.025 0.026 0 8 29 10 0.021 0 13 5 0 4 Benign 0.002 48861 chr7 144150707 144150707 G A rs113536847 TPK1 Synonymous SNV Y115Y 0.018 0.003 0.003 1 21 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.345 48862 chr7 100647553 100647553 G A rs112000879 MUC12 Nonsynonymous SNV R4570H 0.014 0.029 0 7 17 11 0.018 0 7 5 0 3 0.151 48863 chr6 38749064 38749064 C G rs61757621 DNAH8 Nonsynonymous SNV A508G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.1 48864 chr7 100647565 100647565 C T rs74373577 MUC12 Nonsynonymous SNV S4574L 0.043 0.063 0 18 51 24 0.046 0 23 11 0 9 11.13 48865 chr7 148525904 148525904 C G rs2302427 EZH2 Nonsynonymous SNV D146H 0.12 0.083 0.105 41 141 32 0.105 31 14 0 0 2 Benign 24.4 48866 chr7 100647594 100647594 A C rs111391555 MUC12 Nonsynonymous SNV T4584P 0.047 0.06 0.007 27 55 23 0.069 2 23 10 1 12 0.056 48867 chr7 148947279 148947279 A G rs11769362 ZNF212 Synonymous SNV L18L 0.072 0.102 0.065 32 85 39 0.082 19 3 2 1 0 0.764 48868 chr7 100552735 100552735 T C rs765106032 MUC3A Nonsynonymous SNV S1106P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 9.897 48869 chr19 9073888 9073888 C T rs76873427 MUC16 Nonsynonymous SNV A4520T 0.02 0.018 0.027 9 23 7 0.023 8 0 0 0 0 5.201 48870 chr7 100648025 100648025 C T rs201574648 MUC12 Synonymous SNV S4727S 0.008 0.013 0.007 1 9 5 0.003 2 0 0 0 0 2.823 48871 chr7 149462168 149462168 C T rs200292588 ZNF467 Nonsynonymous SNV V475I 0.029 0.031 0.007 16 34 12 0.041 2 0 0 0 0 18.87 48872 chr6 49913927 49913927 C T rs17664085 DEFB133 0.022 0.039 0.048 8 26 15 0.021 14 0 0 0 0 15.02 48873 chr7 149462337 149462337 G A rs855667 ZNF467 Synonymous SNV P418P 0.225 0.208 0.18 111 264 80 0.285 53 26 10 6 11 1.724 48874 chr6 5085998 5085998 G A PPP1R3G Synonymous SNV L93L 0 0 0 0 0 0 0 0 0 0 0 0 12.28 48875 chr7 149462523 149462523 C G rs855668 ZNF467 Synonymous SNV A356A 0.227 0.211 0.255 111 266 81 0.285 75 26 10 9 11 13.16 48876 chr7 149462621 149462621 T C rs6965332 ZNF467 Nonsynonymous SNV T324A 0.112 0.096 0.15 64 132 37 0.164 44 4 1 1 1 2.981 48877 chr7 149474082 149474082 - G rs748030684 SSPO 0.008 0.008 0 6 9 3 0.015 0 0 0 0 0 48878 chr7 149483237 149483237 G A rs77510079 SSPO 0.157 0.148 0.133 62 184 57 0.159 39 15 3 2 6 8.361 48879 chr6 5086628 5086628 G C PPP1R3G Synonymous SNV S303S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.784 48880 chr7 149485059 149485059 T C rs709060 SSPO 0.155 0.156 0.105 62 182 60 0.159 31 16 4 2 7 14.16 48881 chr7 149498893 149498893 A G rs77858430 SSPO 0.106 0.099 0.095 55 124 38 0.141 28 7 1 1 4 4.172 48882 chr7 149498903 149498903 T C rs2074689 SSPO 0.107 0.107 0.099 56 126 41 0.144 29 8 1 2 4 0.753 48883 chr7 100875772 100875772 T G rs1047319 CLDN15 Synonymous SNV P202P 0.247 0.242 0.238 81 290 93 0.208 70 39 12 6 10 0.738 48884 chr7 149499284 149499284 C T rs56163742 SSPO 0.149 0.156 0.058 72 175 60 0.185 17 13 5 1 6 11.75 48885 chr7 149529970 149529970 G T rs55976638 SSPO 0.084 0.117 0.075 37 99 45 0.095 22 4 3 1 1 15.22 48886 chr6 51910905 51910905 T C rs62406032 PKHD1 Nonsynonymous SNV N830S 0.033 0.049 0.048 20 39 19 0.051 14 0 0 0 1 Benign 0.073 48887 chr6 51921703 51921703 A G rs62406036 PKHD1 Synonymous SNV N529N 0.033 0.049 0.048 20 39 19 0.051 14 0 0 0 1 Benign 8.186 48888 chr11 48285686 48285686 C T rs142824107 OR4X1 Nonsynonymous SNV L92F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 48889 chr7 104747094 104747094 C T rs151289792 KMT2E Nonsynonymous SNV P908S 0.011 0.003 0 4 13 1 0.01 0 0 0 0 0 23.9 48890 chr19 35530571 35530571 A T rs780958012 SCN1B Nonsynonymous SNV K208I 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 Uncertain significance 31 48891 chr7 105148593 105148593 G A rs61741425 PUS7 Nonsynonymous SNV H123Y 0.037 0.031 0.037 18 43 12 0.046 11 1 1 1 1 22.6 48892 chr19 35612007 35612007 C T FXYD3 Synonymous SNV D22D 0 0 0 0 0 0 0 0 0 0 0 0 10.42 48893 chr7 105429087 105429087 G C rs28927677 ATXN7L1 Nonsynonymous SNV N106K 0.02 0.034 0.007 12 24 13 0.031 2 0 0 0 0 17.17 48894 chr7 150171710 150171710 T C rs60114833 GIMAP8 Synonymous SNV C431C 0.353 0.365 0.374 154 415 140 0.395 110 106 40 19 35 0.003 48895 chr6 51524014 51524014 C T rs371329493 PKHD1 Nonsynonymous SNV R3637H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 29.9 48896 chr7 100680299 100680299 G C rs111850657 MUC17 Nonsynonymous SNV A1868P 0.011 0.016 0 1 13 6 0.003 0 0 0 0 0 0.009 48897 chr7 100680313 100680313 A G rs201138200 MUC17 Nonsynonymous SNV I1872M 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 0.001 48898 chr7 150500527 150500527 C T rs117401275 TMEM176A Nonsynonymous SNV R109W 0.03 0.016 0.003 11 35 6 0.028 1 0 0 0 0 19.05 48899 chr7 107398672 107398672 A G rs774923870 CBLL1 Synonymous SNV T174T 0.01 0 0 3 12 0 0.008 0 0 0 0 0 0.014 48900 chr6 54254589 54254589 A C rs3736352 TINAG Nonsynonymous SNV I433L 0.053 0.055 0.024 29 62 21 0.074 7 1 1 0 0 3.92 48901 chr7 100681211 100681211 G C rs147094151 MUC17 Nonsynonymous SNV V2172L 0.009 0.005 0.034 2 10 2 0.005 10 3 0 0 0 0.05 48902 chr7 100683036 100683036 T C rs78879527 MUC17 Nonsynonymous SNV I2780T 0.049 0.049 0.034 17 58 19 0.044 10 0 0 0 0 0.606 48903 chr7 100684172 100684172 C T rs59164007 MUC17 Nonsynonymous SNV P3159S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.98 48904 chr19 35832839 35832839 G A rs140037563 CD22 Nonsynonymous SNV R492H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 8.209 48905 chr6 56033069 56033069 T C rs150740016 COL21A1 Synonymous SNV Q351Q 0.014 0.013 0.017 10 17 5 0.026 5 0 0 0 0 2.103 48906 chr6 42933526 42933526 C T rs2274515 PEX6 Synonymous SNV V788V 0.033 0.055 0.041 11 39 21 0.028 12 1 1 0 0 Benign/Likely benign 15.94 48907 chr6 56373536 56373536 C T rs41271862 DST Nonsynonymous SNV D3721N 0.062 0.063 0.068 28 73 24 0.072 20 4 0 1 1 34 48908 chr7 1097183 1097183 G A rs11761941 GPR146 Nonsynonymous SNV G11E 0.188 0.185 0.201 85 221 71 0.218 59 19 4 4 12 0.001 48909 chr7 150783911 150783911 A G rs769408537 AGAP3 Nonsynonymous SNV Q28R 0.165 0.161 0.17 81 194 62 0.208 50 97 31 25 40 0.113 48910 chr7 150783917 150783917 T G rs775200524 AGAP3 Nonsynonymous SNV L30R 0.252 0.276 0.19 97 296 106 0.249 56 148 53 28 48 1.203 48911 chr6 42989414 42989419 GCCGGG - rs200886831 RRP36 G15_A16del 0.041 0.029 0.041 14 48 11 0.036 12 8 1 3 3 48912 chr7 1097394 1097394 T C rs11767527 GPR146 Synonymous SNV P81P 0.188 0.185 0.214 85 221 71 0.218 63 18 4 4 12 0.012 48913 chr19 35941248 35941248 T A rs409093 FFAR2 Nonsynonymous SNV L211H 0.092 0.076 0.088 52 108 29 0.133 26 8 2 3 0 10.2 48914 chr7 1097895 1097895 A G rs61910751 GPR146 Synonymous SNV P248P 0.188 0.185 0.214 84 221 71 0.215 63 18 4 4 12 0.008 48915 chr7 150783920 150783922 TCT - rs776100575 AGAP3 V31_C32delinsG 0.303 0.354 0.19 105 356 136 0.269 56 178 68 28 52 48916 chr7 150783922 150783922 - GGGG rs766984834 AGAP3 Frameshift insertion C32Wfs*99 0.303 0.354 0.19 105 356 136 0.269 56 178 68 28 52 48917 chr7 150812493 150812493 G C rs6971966 AGAP3 Synonymous SNV P212P 0.198 0.195 0.075 79 233 75 0.203 22 109 37 11 37 2.365 48918 chr7 100807806 100807806 C G rs34680114 VGF Nonsynonymous SNV E107Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 9.23 48919 chr7 111368491 111368491 C T rs12705795 DOCK4 Nonsynonymous SNV V1914I 0.071 0.078 0.061 30 83 30 0.077 18 3 1 2 0 22.9 48920 chr6 54191686 54191686 C T rs41276062 TINAG Nonsynonymous SNV P199L 0.049 0.039 0.058 18 58 15 0.046 17 1 0 1 1 19.71 48921 chr6 6145882 6145882 G A rs5989 F13A1 Synonymous SNV D723D 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.93 48922 chr6 43021519 43021519 G A rs3737186 CUL7 Synonymous SNV R26R 0.035 0.034 0.041 6 41 13 0.015 12 2 0 0 0 Benign 11.17 48923 chr6 43034850 43034850 C T rs4714660 KLC4 Nonsynonymous SNV T303M 0.037 0.042 0.051 7 43 16 0.018 15 2 0 0 0 0.14 48924 chr19 36017615 36017615 G A rs116935689 SBSN Synonymous SNV A523A 0.024 0.016 0.027 7 28 6 0.018 8 1 0 0 0 16.04 48925 chr19 36018124 36018124 C T rs746262600 SBSN Nonsynonymous SNV V354I 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 10.05 48926 chr7 102553603 102553603 C G rs17135923 FBXL13 Nonsynonymous SNV G313A 0.04 0.044 0.051 19 47 17 0.049 15 0 0 0 0 26.9 48927 chr6 43152573 43152573 A G rs9472022 CUL9 Synonymous SNV L175L 0.133 0.135 0.163 51 156 52 0.131 48 11 3 5 2 7.955 48928 chr7 102574651 102574651 G A rs35321082 LRRC17 Synonymous SNV K97K 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 12.54 48929 chr6 43155718 43155718 G A rs145911635 CUL9 Nonsynonymous SNV E617K 0.014 0.018 0.02 5 17 7 0.013 6 0 0 0 0 Likely benign 17.01 48930 chr7 102574920 102574920 G C rs1057066 LRRC17 Nonsynonymous SNV G187A 0.105 0.089 0.139 36 123 34 0.092 41 3 0 4 2 25.4 48931 chr19 36018570 36018623 CTCCCAGCCTCATTTCCGGCCTGCCCTGCAGCATGGTGGACTCCCTGGCCAAAC - SBSN V192_G209del 0.019 0.008 0.031 9 22 3 0.023 9 6 0 2 2 48932 chr6 43184132 43184132 A C rs2273709 CUL9 Nonsynonymous SNV H2058P 0.17 0.177 0.228 68 200 68 0.174 67 16 4 10 5 0.391 48933 chr19 36046171 36046171 G A rs146535206 ATP4A Synonymous SNV I741I 0 0 0 0 0 0 0 0 0 0 0 0 12.28 48934 chr7 102616351 102616351 C T rs77574575 NFE4 Nonsynonymous SNV H77Y 0.158 0.146 0.143 61 185 56 0.156 42 7 2 4 5 5.397 48935 chr6 43223588 43223588 C T rs371564967 TTBK1 Synonymous SNV D285D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.547 48936 chr7 102616515 102616515 G A rs2228686 NFE4 Synonymous SNV V131V 0.158 0.143 0.15 61 185 55 0.156 44 7 2 5 5 3.247 48937 chr19 36142187 36142187 C T rs7991 COX6B1 Synonymous SNV T14T 0.066 0.065 0.068 30 77 25 0.077 20 2 0 0 1 Benign 19.31 48938 chr6 55739636 55739636 C A rs752470107 BMP5 Nonsynonymous SNV G10C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 48939 chr7 154735991 154735991 C G rs6970365 PAXIP1-AS2 0.01 0 0.003 5 12 0 0.013 1 0 0 0 0 1.491 48940 chr19 36211375 36211377 AAG - rs199534880 KMT2B K376del 0.035 0.039 0.034 22 41 15 0.056 10 0 0 0 1 48941 chr7 102760511 102760511 A C rs12540583 NAPEPLD Nonsynonymous SNV S152A 0.079 0.06 0.112 33 93 23 0.085 33 0 0 3 2 5.876 48942 chr7 1028448 1028448 C T rs3808348 CYP2W1 Nonsynonymous SNV P488L 0.116 0.089 0.102 49 136 34 0.126 30 12 2 1 6 16.1 48943 chr7 117375430 117375430 A G CTTNBP2 Nonsynonymous SNV I1176T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.9 48944 chr7 11871406 11871406 G C rs140474426 THSD7A Nonsynonymous SNV P56R 0.014 0.013 0 14 16 5 0.036 0 0 0 0 0 12.91 48945 chr6 70647986 70647986 A T COL19A1 Synonymous SNV G310G 0.01 0.01 0 0 12 4 0 0 0 0 0 0 0.854 48946 chr6 56917520 56917520 T C rs36113897 KIAA1586 Nonsynonymous SNV F48L 0.078 0.076 0.099 34 91 29 0.087 29 3 1 2 1 1.307 48947 chr7 103162607 103162607 G A rs2075038 RELN Synonymous SNV P2510P 0.049 0.036 0.051 10 58 14 0.026 15 1 0 1 0 Benign 12.66 48948 chr7 100551799 100551799 A G rs200943429 MUC3A Nonsynonymous SNV I794V 0.104 0.081 0.088 39 122 31 0.1 26 0 0 0 0 0.001 48949 chr7 155755803 155755803 G A rs961766912 LOC389602 Nonsynonymous SNV G94R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.12 48950 chr7 104717517 104717517 C T rs2240455 KMT2E Synonymous SNV Y292Y 0.152 0.151 0.173 53 179 58 0.136 51 13 3 3 4 7.534 48951 chr7 1195215 1195215 A C rs1133116 ZFAND2A Synonymous SNV V52V 0.191 0.201 0.238 88 224 77 0.226 70 19 7 7 11 0.026 48952 chr7 104752798 104752798 G A rs74959149 KMT2E Nonsynonymous SNV S1532N 0.02 0.026 0.01 11 24 10 0.028 3 0 0 0 0 6.931 48953 chr7 105615406 105615406 G A rs35008315 CDHR3 Nonsynonymous SNV V55M 0.175 0.104 0.153 69 206 40 0.177 45 15 3 3 6 26.3 48954 chr7 105615426 105615426 G C rs34426483 CDHR3 Nonsynonymous SNV Q61H 0.175 0.104 0.156 69 206 40 0.177 46 15 3 3 6 10.11 48955 chr6 57512796 57512796 - CA PRIM2 0.014 0.023 0 5 16 9 0.013 0 0 0 0 0 48956 chr7 120972016 120972016 C A rs74389152 WNT16 Nonsynonymous SNV Q201K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 48957 chr19 10794329 10794329 C T rs34462812 ILF3 Synonymous SNV F627F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 19.13 48958 chr19 36435631 36435631 C T rs115982229 LRFN3 Nonsynonymous SNV P533S 0.007 0.016 0.01 10 8 6 0.026 3 0 0 0 0 15.34 48959 chr7 121682694 121682694 T C rs61757819 PTPRZ1 Nonsynonymous SNV V1078A 0.014 0.005 0.017 2 16 2 0.005 5 0 0 0 0 28.1 48960 chr19 10823940 10823940 G T rs11672431 QTRT1 Synonymous SNV L402L 0.017 0.023 0.041 9 20 9 0.023 12 0 0 0 1 3.974 48961 chr6 71378355 71378355 C - rs200042613 SMAP1 Stop gain L9* 0.032 0.021 0.014 21 37 8 0.054 4 0 0 0 0 48962 chr6 71569066 71569066 - CAT rs201201431 SMAP1 I409_S410insI 0.032 0.023 0.014 25 38 9 0.064 4 0 0 0 0 48963 chr7 122342643 122342643 C T rs192276120 RNF148 Synonymous SNV S54S 0.004 0 0 0 5 0 0 0 0 0 0 0 7.991 48964 chr6 63990833 63990833 T C rs147959896 LGSN Nonsynonymous SNV Y208C 0.003 0 0 0 4 0 0 0 1 0 0 0 0.006 48965 chr6 7231843 7231843 G A rs9379084 RREB1 Nonsynonymous SNV D1171N 0.206 0.177 0.136 72 242 68 0.185 40 26 13 1 6 32 48966 chr7 123267186 123267186 G - rs138215101 ASB15 D241Mfs*52 0.032 0.016 0.02 10 37 6 0.026 6 0 0 0 0 48967 chr7 157387984 157387984 G C rs78328889 PTPRN2 Synonymous SNV P776P 0.081 0.068 0.037 28 95 26 0.072 11 4 1 1 1 7.464 48968 chr6 44371714 44371714 C T rs6934058 CDC5L Synonymous SNV D236D 0.094 0.094 0.088 40 110 36 0.103 26 4 3 4 3 11.4 48969 chr6 73102442 73102442 C T rs2815738 RIMS1 Synonymous SNV F43F 0.267 0.276 0.214 102 313 106 0.262 63 41 16 6 13 Benign 14.22 48970 chr6 44413463 44413463 T A rs2273666 CDC5L Synonymous SNV L721L 0.082 0.07 0.065 33 96 27 0.085 19 1 1 1 2 12.48 48971 chr19 37005640 37005640 A G rs201864811 ZNF260 Synonymous SNV N167N 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 2.691 48972 chr7 110763944 110763944 T C rs149429802 LRRN3 Synonymous SNV C372C 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 0.013 48973 chr6 74019376 74019376 T C rs16883573 KHDC1 Nonsynonymous SNV Y21C 0.089 0.081 0.102 33 105 31 0.085 30 5 2 3 1 0.009 48974 chr6 74111630 74111630 A G rs778265887 DDX43 Nonsynonymous SNV N162S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 48975 chr7 16460893 16460893 T G rs7782939 CRPPA Nonsynonymous SNV S19R 0.151 0.122 0.207 75 177 47 0.192 61 34 9 9 15 Benign 0.02 48976 chr11 4842866 4842866 A G rs35003053 OR51F2 Nonsynonymous SNV D72G 0.167 0.172 0.16 70 196 66 0.179 47 11 8 4 6 25.9 48977 chr19 12187708 12187708 G A rs779686589 ZNF844 Synonymous SNV V591V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.774 48978 chr6 66042270 66042270 G T rs879664255 EYS Nonsynonymous SNV H603N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.536 48979 chr7 12433390 12433390 G A rs139605380 VWDE Nonsynonymous SNV P25S 0.02 0.008 0.007 2 24 3 0.005 2 0 0 0 0 23.5 48980 chr19 12463856 12463856 T C rs73921445 ZNF442 Nonsynonymous SNV K51E 0.02 0.029 0.007 10 24 11 0.026 2 1 2 0 0 23.5 48981 chr6 47252045 47252045 G A rs146578369 TNFRSF21 Nonsynonymous SNV T291I 0.012 0.021 0.02 5 14 8 0.013 6 0 0 0 0 16.57 48982 chr11 4870284 4870284 G C rs35918613 OR51S1 Nonsynonymous SNV T52S 0.145 0.154 0.153 60 170 59 0.154 45 12 7 4 4 0.642 48983 chr6 74348142 74348142 T C rs3757112 SLC17A5 Synonymous SNV S202S 0.043 0.044 0.058 16 50 17 0.041 17 1 0 0 0 Benign 5.031 48984 chr7 12644157 12644157 G - SCIN G179Vfs*10 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 48985 chr7 12644161 12644161 C T SCIN Nonsynonymous SNV S180F 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 32 48986 chr11 4936508 4936508 A T OR51G2 Nonsynonymous SNV V129E 0 0 0.003 0 0 0 0 1 0 0 0 0 28 48987 chr7 11871470 11871481 GCAGCGGCAGCG - rs536177295 THSD7A P31_L34del 0.012 0.008 0.003 5 14 3 0.013 1 0 0 0 0 48988 chr7 127669584 127669584 T C rs73238074 LRRC4 Synonymous SNV A370A 0.138 0.13 0.116 54 162 50 0.138 34 9 5 0 5 0.008 48989 chr7 127669857 127669857 A T rs3823994 LRRC4 Synonymous SNV S279S 0.233 0.242 0.238 91 274 93 0.233 70 29 15 7 14 0.005 48990 chr11 5020933 5020933 A T rs61729748 OR51L1 Nonsynonymous SNV N241Y 0.011 0.01 0.01 5 13 4 0.013 3 1 0 0 0 24.6 48991 chr6 47649959 47649968 CCAAGTCAGT - rs751992168 ADGRF2 K556Wfs*42 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 48992 chr6 75855848 75855848 A C COL12A1 Synonymous SNV V346V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.656 48993 chr19 37644489 37644489 A T rs62110074 ZNF585A Nonsynonymous SNV H104Q 0.017 0.018 0.02 8 20 7 0.021 6 0 0 0 0 11.73 48994 chr7 128315889 128315889 A T rs6971819 FAM71F2 Nonsynonymous SNV D114V 0.082 0.089 0.078 45 96 34 0.115 23 4 1 2 3 1.702 48995 chr6 75866124 75866124 A G rs751065518 COL12A1 Synonymous SNV H1033H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 0.019 48996 chr6 72892471 72892471 A G rs996767502 RIMS1 Nonsynonymous SNV T433A 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Uncertain significance 20.7 48997 chr7 128388648 128388648 G A rs2290228 CALU Nonsynonymous SNV R4Q 0.193 0.19 0.187 70 226 73 0.179 55 16 5 8 5 23 48998 chr7 122342769 122342769 A G rs73437705 RNF148 Synonymous SNV S12S 0.029 0.029 0.017 10 34 11 0.026 5 3 1 0 1 0.005 48999 chr19 14164629 14164629 C T rs75841596 PALM3 Nonsynonymous SNV D553N 0.054 0.042 0.027 17 63 16 0.044 8 2 0 0 0 26.8 49000 chr7 21828869 21828869 A T rs72657389 DNAH11 Nonsynonymous SNV D3312V 0.02 0.018 0.007 5 24 7 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 49001 chr7 122635389 122635389 G A rs2233988 TAS2R16 Synonymous SNV T100T 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 8.448 49002 chr7 128480139 128480139 A G rs118056738 FLNC Nonsynonymous SNV K492E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 49003 chr7 21856151 21856151 G A rs2214326 DNAH11 Nonsynonymous SNV A3467T 0.413 0.367 0.364 157 485 141 0.403 107 94 26 16 29 Benign 0.001 49004 chr7 100680521 100680521 G A rs73712043 MUC17 Nonsynonymous SNV E1942K 0.014 0.005 0.02 3 16 2 0.008 6 0 0 0 0 0.886 49005 chr6 76731854 76731854 G A rs41269331 IMPG1 Synonymous SNV N137N 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 7.755 49006 chr7 100681453 100681453 C T rs77440980 MUC17 Synonymous SNV T2252T 0.014 0.005 0.02 3 16 2 0.008 6 0 0 0 0 7.108 49007 chr7 100681751 100681751 A G rs73712044 MUC17 Nonsynonymous SNV S2352G 0.014 0.005 0.02 3 16 2 0.008 6 0 0 0 0 0.028 49008 chr7 129479138 129479138 T C rs12539800 UBE2H Synonymous SNV L81L 0.071 0.089 0.116 31 83 34 0.079 34 3 2 1 1 11.03 49009 chr7 129818356 129818356 T C rs73144800 TMEM209 Nonsynonymous SNV T377A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 49010 chr7 22202046 22202046 G T rs28716840 RAPGEF5 Nonsynonymous SNV P163H 0.049 0.055 0.037 21 57 21 0.054 11 1 0 0 1 18.08 49011 chr6 74406010 74406010 C T CD109 Synonymous SNV P24P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.54 49012 chr7 100684650 100684650 C G rs12673753 MUC17 Nonsynonymous SNV A3318G 0.014 0.005 0.02 3 16 2 0.008 6 0 0 0 0 14.2 49013 chr7 22202111 22202111 C T rs41273957 RAPGEF5 Synonymous SNV P141P 0.049 0.055 0.034 21 57 21 0.054 10 1 0 0 1 16.6 49014 chr6 80626375 80626375 T C rs3812153 ELOVL4 Nonsynonymous SNV M299V 0.104 0.065 0.092 43 122 25 0.11 27 6 3 2 4 Benign 0.002 49015 chr6 82461580 82461580 G C TENT5A Synonymous SNV L93L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.834 49016 chr7 23307590 23307590 C T rs140819013 GPNMB Synonymous SNV V413V 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 Likely benign 11.98 49017 chr6 82461742 82461742 - CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG TENT5A G45_G46insDFGGGDFGGG 0.014 0.016 0 6 17 6 0.015 0 0 0 0 0 49018 chr7 102098010 102098010 G A rs41275227 ALKBH4 Nonsynonymous SNV A247V 0.139 0.125 0.129 43 163 48 0.11 38 12 2 3 1 12.45 49019 chr7 100634302 100634302 C G rs185116753 MUC12 Nonsynonymous SNV P153R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.38 49020 chr7 102106201 102106201 G A rs3823658 MIR5090 0.13 0.112 0.116 37 153 43 0.095 34 10 1 2 1 7.481 49021 chr7 2416682 2416682 C G rs149974474 EIF3B Nonsynonymous SNV P709R 0.023 0.013 0.003 5 27 5 0.013 1 0 0 0 0 21 49022 chr6 83933491 83933491 G A rs116402692 ME1 Synonymous SNV L479L 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 10.74 49023 chr7 102108532 102108532 G A rs73189880 LRWD1 Synonymous SNV R82R 0.136 0.117 0.122 46 160 45 0.118 36 10 2 2 2 9.771 49024 chr7 102110058 102110058 C T rs150030777 LRWD1 Synonymous SNV I270I 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 15.05 49025 chr7 130025024 130025024 C T rs782346209 CPA1 Synonymous SNV Y275Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.228 49026 chr7 130365805 130365805 A G rs117124404 TSGA13 Synonymous SNV H51H 0.023 0.01 0.003 8 27 4 0.021 1 0 0 0 0 0.054 49027 chr7 25207974 25207974 T C rs2717858 C7orf31 Nonsynonymous SNV Y82C 0.166 0.146 0.112 50 195 56 0.128 33 16 3 6 3 0.091 49028 chr19 38872778 38872778 C T rs1131182 PSMD8 Synonymous SNV I275I 0.089 0.099 0.088 43 104 38 0.11 26 3 1 1 4 21.2 49029 chr7 25207994 25207994 G A rs2717857 C7orf31 Synonymous SNV P75P 0.163 0.143 0.099 49 191 55 0.126 29 15 3 5 3 7.128 49030 chr7 25266400 25266400 G A rs2717851 NPVF Synonymous SNV P128P 0.321 0.292 0.276 134 377 112 0.344 81 59 21 5 28 8.687 49031 chr6 53516760 53516760 C G rs200137077 KLHL31 Nonsynonymous SNV R514T 0.004 0.016 0 4 5 6 0.01 0 0 0 0 0 27.1 49032 chr7 2564944 2564944 C T rs139864844 LFNG Synonymous SNV S191S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.86 49033 chr6 87969480 87969480 G A rs6910541 ZNF292 Nonsynonymous SNV V2045I 0.126 0.128 0.136 64 148 49 0.164 40 7 3 6 6 0.002 49034 chr7 2566028 2566028 G A rs12700028 LFNG Synonymous SNV S324S 0.043 0.039 0.027 13 50 15 0.033 8 1 0 1 0 Benign 4.48 49035 chr7 127236036 127236036 C T rs747243388 FSCN3 Nonsynonymous SNV R274W 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 28.2 49036 chr7 100680294 100680294 G - MUC17 S1866Tfs*4 0.031 0.018 0 4 36 7 0.01 0 0 0 0 0 49037 chr7 100680296 100680296 - C MUC17 Frameshift insertion A1868Cfs*16 0.029 0.021 0 4 34 8 0.01 0 0 0 0 0 49038 chr6 78172750 78172750 A C rs130060 HTR1B Nonsynonymous SNV F124C 0.014 0.003 0.014 7 16 1 0.018 4 0 0 0 0 26.4 49039 chr6 87994504 87994504 C T rs35259282 GJB7 Nonsynonymous SNV V43M 0.095 0.086 0.095 42 112 33 0.108 28 3 2 2 5 24.3 49040 chr7 127955072 127955072 T C rs760663325 RBM28 Nonsynonymous SNV Q456R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 27.8 49041 chr6 88853635 88853635 C T rs1049353 CNR1 Synonymous SNV T453T 0.17 0.201 0.177 59 200 77 0.151 52 12 5 5 3 11.43 49042 chr7 103155864 103155864 A G rs56345626 RELN Synonymous SNV P2629P 0.21 0.169 0.207 76 246 65 0.195 61 21 8 8 5 Benign 8.175 49043 chr7 133906576 133906576 A G rs34501262 LRGUK Nonsynonymous SNV Y630C 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 0.021 49044 chr19 39026667 39026667 G A rs142518033 RYR1 Synonymous SNV Q3844Q 0.025 0.018 0.007 9 29 7 0.023 2 1 0 0 0 Benign/Likely benign 8.31 49045 chr7 2645526 2645526 G A rs10950797 IQCE Nonsynonymous SNV R522H 0.112 0.102 0.116 65 131 39 0.167 34 11 3 5 6 5.162 49046 chr7 134717641 134717641 A G AGBL3 Synonymous SNV R155R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.521 49047 chr7 2646950 2646950 T G rs1056568 IQCE Synonymous SNV A621A 0.288 0.271 0.255 129 338 104 0.331 75 52 15 14 22 2.716 49048 chr7 106888867 106888867 G A rs35581984 COG5 Synonymous SNV I619I 0.049 0.031 0.054 16 58 12 0.041 16 0 0 1 0 Benign/Likely benign 13.47 49049 chr19 39516139 39516139 T G rs201679838 FBXO27 Nonsynonymous SNV H255P 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 26.2 49050 chr7 100771717 100771717 G A rs6092 SERPINE1 Nonsynonymous SNV A15T 0.128 0.12 0.095 36 150 46 0.092 28 13 2 3 3 Likely benign 13.61 49051 chr7 107594185 107594185 C T rs61751041 LAMB1 Nonsynonymous SNV D957N 0.01 0.01 0.02 4 12 4 0.01 6 0 0 0 0 Benign 22.7 49052 chr6 90402840 90402840 C A rs9351212 MDN1 Synonymous SNV L3303L 0.108 0.146 0.024 31 127 56 0.079 7 4 5 1 2 10.54 49053 chr7 107800936 107800936 C T rs17155094 NRCAM Synonymous SNV A1019A 0.076 0.073 0.048 24 89 28 0.062 14 2 1 1 0 8.795 49054 chr7 128470838 128470838 C T rs3734972 FLNC Synonymous SNV H49H 0.09 0.078 0.061 34 106 30 0.087 18 5 2 0 1 Benign 15.46 49055 chr7 134882882 134882882 T A rs780600365 WDR91 Nonsynonymous SNV T305S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 49056 chr6 90418331 90418331 A G rs55729223 MDN1 Synonymous SNV P2594P 0.1 0.13 0.099 30 117 50 0.077 29 4 5 1 2 6.839 49057 chr7 102087202 102087202 T C rs1129271 ORAI2 Synonymous SNV L79L 0.032 0.016 0.044 9 38 6 0.023 13 2 0 2 0 0.001 49058 chr7 27183146 27183146 A G rs149964084 HOXA5 Synonymous SNV H27H 0.023 0.029 0.007 3 27 11 0.008 2 0 0 0 0 Benign 1.691 49059 chr7 27194546 27194546 C T rs146964934 HOXA7 Synonymous SNV E225E 0.021 0.026 0.007 3 25 10 0.008 2 0 0 0 0 5.479 49060 chr7 102113226 102113226 C T rs148981077 LRWD1 Nonsynonymous SNV P441L 0.032 0.018 0.037 7 38 7 0.018 11 0 0 0 0 9.258 49061 chr6 84881407 84881407 C A rs374652825 CEP162 Nonsynonymous SNV D657Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 49062 chr19 15298031 15298031 C T rs79926127 NOTCH3 Synonymous SNV T575T 0.02 0.034 0.017 7 23 13 0.018 5 0 0 0 0 Benign/Likely benign 20.3 49063 chr7 1097980 1097980 G A rs546763165 GPR146 Nonsynonymous SNV V277M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.305 49064 chr6 90486325 90486325 T C rs41402447 MDN1 Synonymous SNV R605R 0.108 0.146 0.099 31 127 56 0.079 29 4 5 1 2 3.827 49065 chr6 85446550 85446550 C T rs141651641 TBX18 Synonymous SNV P559P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 8.847 49066 chr7 2748803 2748803 C T rs58726146 AMZ1 Synonymous SNV D232D 0.138 0.13 0.095 38 162 50 0.097 28 25 8 1 4 9.3 49067 chr11 5536309 5536309 G C rs12223282 UBQLNL Nonsynonymous SNV Q455E 0.033 0.016 0.048 18 39 6 0.046 14 1 0 1 1 0.544 49068 chr6 90577602 90577602 C T rs60966143 CASP8AP2 Synonymous SNV A1531A 0.118 0.156 0.112 35 139 60 0.09 33 5 5 1 3 10.22 49069 chr7 135376041 135376041 G A rs36004833 SLC13A4 Nonsynonymous SNV P452S 0.045 0.036 0.027 8 53 14 0.021 8 2 0 0 0 18.4 49070 chr6 56966813 56966813 G T rs201464144 ZNF451 Synonymous SNV G533G 0.006 0.018 0 4 7 7 0.01 0 0 0 0 0 12.31 49071 chr7 128491606 128491606 G A rs58914363 FLNC Synonymous SNV A1889A 0.008 0.013 0.003 3 9 5 0.008 1 0 0 0 0 Likely benign 1.872 49072 chr19 15580658 15580658 G A rs2304200 PGLYRP2 Nonsynonymous SNV R476W 0.097 0.096 0.092 51 114 37 0.131 27 3 2 4 4 27.2 49073 chr7 128607372 128607372 T C rs753856787 TNPO3 Synonymous SNV T827T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 9.172 49074 chr7 11082439 11082439 T C rs61753125 PHF14 Synonymous SNV Y770Y 0.047 0.052 0.054 10 55 20 0.026 16 2 0 3 0 0.422 49075 chr7 111368767 111368767 G T rs10281942 DOCK4 Nonsynonymous SNV Q1822K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 17.02 49076 chr7 29070320 29070320 C T rs1052200 CPVL Nonsynonymous SNV R220H 0.098 0.107 0.119 38 115 41 0.097 35 2 5 4 1 21.1 49077 chr7 29152371 29152371 G A rs323182 CPVL Synonymous SNV T79T 0.133 0.135 0.119 37 156 52 0.095 35 11 5 1 2 13.43 49078 chr7 138268726 138268726 C T rs56055129 TRIM24 Synonymous SNV N941N 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 12.12 49079 chr7 29152416 29152416 G A rs2011337 CPVL Synonymous SNV G64G 0.136 0.138 0.122 37 160 53 0.095 36 13 5 1 2 7.415 49080 chr11 55419265 55419265 A G rs145481399 OR4S2 Nonsynonymous SNV M296V 0.02 0.018 0.02 3 23 7 0.008 6 3 3 1 1 7.838 49081 chr7 138406668 138406668 C T rs376273720 ATP6V0A4 Nonsynonymous SNV G705R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 18.05 49082 chr7 129762004 129762004 G T rs78696877 KLHDC10 Synonymous SNV L247L 0.023 0.026 0.02 11 27 10 0.028 6 1 1 0 0 9.42 49083 chr7 29523563 29523563 G A rs12665897 CHN2 Nonsynonymous SNV R2Q 0.343 0.328 0.34 125 403 126 0.321 100 69 22 18 22 1.439 49084 chr7 2957005 2957005 T C rs3735124 CARD11 Synonymous SNV P874P 0.277 0.276 0.293 109 325 106 0.279 86 42 10 14 10 0.37 49085 chr19 40196627 40196627 G A rs72480733 LGALS14 Nonsynonymous SNV R27H 0.045 0.031 0.078 16 53 12 0.041 23 1 0 0 0 15.67 49086 chr6 99893878 99893878 T C rs12203426 USP45 Synonymous SNV L532L 0.088 0.081 0.119 32 103 31 0.082 35 3 0 1 0 6.182 49087 chr6 656343 656343 T C rs17136239 HUS1B Nonsynonymous SNV Q201R 0.141 0.154 0.18 60 166 59 0.154 53 10 4 4 6 2.809 49088 chr11 55606472 55606472 T C rs62001008 OR5D16 Nonsynonymous SNV M82T 0.099 0.073 0.075 38 116 28 0.097 22 6 1 0 1 15.71 49089 chr7 131866206 131866206 C T rs17166227 PLXNA4 Synonymous SNV P1142P 0.065 0.076 0.031 24 76 29 0.062 9 3 1 0 1 12.99 49090 chr7 30634548 30634548 C T rs62636572 GARS1 Nonsynonymous SNV P4L 0.014 0.016 0.024 8 16 6 0.021 7 0 0 0 1 Benign/Likely benign 22 49091 chr7 106799958 106799958 C T rs76484258 PRKAR2B Synonymous SNV I396I 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Benign 17.47 49092 chr7 30655542 30655542 T C rs11553502 GARS1 Synonymous SNV F300F 0.035 0.034 0.044 8 41 13 0.021 13 1 0 0 0 Benign 8.245 49093 chr7 30671087 30671087 T C rs14270 GARS1 Synonymous SNV V557V 0.035 0.034 0.044 8 41 13 0.021 13 1 0 0 0 Benign 6.856 49094 chr7 120610901 120610901 C T rs2525725 ING3 Synonymous SNV D356D 0.129 0.159 0.119 60 151 61 0.154 35 6 10 3 6 14.98 49095 chr7 30673401 30673401 A G rs4593 GARS1 Synonymous SNV T661T 0.035 0.034 0.048 8 41 13 0.021 14 1 0 0 0 Benign 7.841 49096 chr6 71235002 71235002 C G FAM135A Nonsynonymous SNV P510A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 49097 chr7 134717656 134717656 G A rs9656446 AGBL3 Synonymous SNV Q160Q 0.004 0.005 0.017 4 5 2 0.01 5 0 0 0 0 1.668 49098 chr19 40711893 40711893 - TTTCGG MAP3K10 R422delinsLSG 0.074 0.049 0 35 87 19 0.09 0 0 0 0 0 49099 chr7 139415943 139415943 G A rs4074826 HIPK2 Synonymous SNV P297P 0.099 0.094 0.139 48 116 36 0.123 41 5 1 4 5 2.918 49100 chr7 108155377 108155377 G A rs139626312 PNPLA8 Nonsynonymous SNV R187C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 49101 chr7 135269655 135269655 T C rs58392569 NUP205 Nonsynonymous SNV M15T 0.053 0.052 0.065 18 62 20 0.046 19 3 0 1 0 8.096 49102 chr7 1098120 1098120 G A rs139871108 GPR146 Synonymous SNV P323P 0.007 0 0 0 8 0 0 0 0 0 0 0 1.134 49103 chr7 135269656 135269656 G A rs61459701 NUP205 Nonsynonymous SNV M15I 0.053 0.052 0.065 18 62 20 0.046 19 3 0 1 0 11.52 49104 chr7 100464053 100464053 G A rs199582669 SLC12A9 Synonymous SNV E714E 0.026 0.031 0.003 13 31 12 0.033 1 1 0 0 0 1.051 49105 chr7 31697913 31697913 - T rs35589779 ITPRID1 Frameshift insertion S1036Ffs*6 0.225 0.185 0.238 92 264 71 0.236 70 30 4 11 7 49106 chr7 135292080 135292080 G A rs61734146 NUP205 Synonymous SNV A694A 0.054 0.052 0.065 18 63 20 0.046 19 3 0 1 0 15.68 49107 chr7 140125839 140125839 G A rs4726807 RAB19 Synonymous SNV A181A 0.051 0.047 0.044 17 60 18 0.044 13 2 0 0 0 15.25 49108 chr7 135292098 135292098 G A rs61734151 NUP205 Synonymous SNV Q700Q 0.064 0.057 0.078 22 75 22 0.056 23 3 0 1 0 10.77 49109 chr7 135304215 135304215 C T rs11550518 NUP205 Synonymous SNV A978A 0.056 0.055 0.065 18 66 21 0.046 19 3 0 1 0 12.05 49110 chr6 97580539 97580539 A G rs13208956 KLHL32 Synonymous SNV E403E 0.034 0.031 0.037 21 40 12 0.054 11 1 0 0 0 8.383 49111 chr7 112424650 112424650 G A rs73205167 TMEM168 Synonymous SNV I77I 0.017 0.021 0.007 6 20 8 0.015 2 0 0 0 0 8.503 49112 chr19 41186879 41186879 A G rs2561545 NUMBL Synonymous SNV C120C 0.063 0.065 0.068 26 74 25 0.067 20 2 0 0 1 6.918 49113 chr6 97613299 97613299 G A rs10484830 MMS22L Nonsynonymous SNV P732L 0.037 0.031 0.044 22 43 12 0.056 13 1 0 1 0 23.5 49114 chr7 135333172 135333172 C T rs61740269 NUP205 Synonymous SNV N1611N 0.054 0.055 0.065 18 63 21 0.046 19 3 0 1 0 12.47 49115 chr7 140395555 140395555 T - rs373239942 NDUFB2-AS1 0.011 0.026 0.065 14 13 10 0.036 19 0 0 0 0 49116 chr7 137150695 137150695 T C rs2293545 DGKI Synonymous SNV T857T 0.101 0.089 0.095 40 118 34 0.103 28 8 1 2 0 1.39 49117 chr19 41313437 41313437 C T rs34636581 EGLN2 Synonymous SNV A383A 0.012 0.008 0.003 5 14 3 0.013 1 1 0 0 0 Benign 12.49 49118 chr6 99323424 99323424 C T rs11537982 FBXL4 Synonymous SNV G523G 0.066 0.078 0.051 19 77 30 0.049 15 3 1 0 0 Benign 14.18 49119 chr7 12391268 12391268 - A rs11454536 VWDE Stop gain K1158* 0.118 0.107 0.112 45 139 41 0.115 33 14 3 3 2 49120 chr7 115624478 115624478 C G rs35695387 TFEC Nonsynonymous SNV Q6H 0.014 0.013 0.02 4 17 5 0.01 6 0 0 0 0 23.2 49121 chr7 12400783 12400783 C T rs35171886 VWDE Nonsynonymous SNV C935Y 0.108 0.091 0.048 39 127 35 0.1 14 9 1 1 1 26 49122 chr7 12401021 12401021 C T rs80272295 VWDE Nonsynonymous SNV G894R 0.108 0.091 0.105 39 127 35 0.1 31 9 1 1 1 11.78 49123 chr7 138545946 138545946 C T rs60797311 KIAA1549 Nonsynonymous SNV R1729K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 23.8 49124 chr7 12409263 12409263 C A rs17165906 VWDE Nonsynonymous SNV C775F 0.11 0.094 0.109 39 129 36 0.1 32 10 1 1 1 28.1 49125 chr7 100028352 100028352 C T rs117656893 MEPCE Synonymous SNV D237D 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 7.756 49126 chr7 12409327 12409327 C T rs17165910 VWDE Nonsynonymous SNV E754K 0.11 0.094 0.109 39 129 36 0.1 32 10 1 1 1 20.4 49127 chr7 12409522 12409522 A G rs3823844 VWDE Nonsynonymous SNV Y689H 0.11 0.094 0.119 39 129 36 0.1 35 10 1 2 1 0.001 49128 chr7 36327307 36327307 G A rs142587467 EEPD1 Synonymous SNV G412G 0.02 0.031 0.01 12 24 12 0.031 3 1 0 0 0 2.924 49129 chr7 12409535 12409535 A G rs3801366 VWDE Synonymous SNV S684S 0.11 0.094 0.109 39 129 36 0.1 32 10 1 1 1 7.189 49130 chr7 141854577 141854577 T C rs774919724 MGAM2 Nonsynonymous SNV C619R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.1 49131 chr7 12410362 12410362 C T rs1072557 VWDE Synonymous SNV P457P 0.11 0.094 0.109 39 129 36 0.1 32 10 1 1 1 13.76 49132 chr7 14188806 14188806 C T rs34616903 DGKB Nonsynonymous SNV G770S 0.049 0.063 0.017 11 58 24 0.028 5 2 1 0 1 16.25 49133 chr7 12414725 12414725 G A rs17165936 VWDE Stop gain R385X 0.11 0.094 0.116 39 129 36 0.1 34 10 1 1 1 36 49134 chr7 100460331 100460331 G A rs72615164 SLC12A9 Synonymous SNV P437P 0.01 0.008 0 6 12 3 0.015 0 0 0 0 0 4.653 49135 chr7 100486110 100486110 C T rs11171 SRRT Synonymous SNV D856D 0.108 0.125 0.102 28 127 48 0.072 30 10 2 2 0 12.41 49136 chr7 138761088 138761088 C T rs116955781 ZC3HAV1 Synonymous SNV T669T 0.03 0.018 0.034 10 35 7 0.026 10 0 0 1 0 Benign 12.3 49137 chr7 37934146 37934146 T C rs56128139 NME8 Nonsynonymous SNV I493T 0.34 0.378 0.279 127 399 145 0.326 82 61 29 14 21 Benign 9.785 49138 chr7 138969129 138969129 A G rs764304489 UBN2 Nonsynonymous SNV K1160E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.1 49139 chr7 37934147 37934147 A T rs41276027 NME8 Synonymous SNV I493I 0.34 0.378 0.279 127 399 145 0.326 82 61 29 14 21 Benign 0.002 49140 chr7 12433347 12433347 C T rs17165995 VWDE Nonsynonymous SNV R39H 0.118 0.086 0.143 40 138 33 0.103 42 11 1 2 1 14 49141 chr7 100490077 100490077 G A rs7636 ACHE Synonymous SNV P477P 0.107 0.122 0.102 23 126 47 0.059 30 10 2 2 0 2.25 49142 chr7 100490797 100490797 G T rs1799805 ACHE Nonsynonymous SNV H353N 0.108 0.122 0.095 27 127 47 0.069 28 10 2 2 0 Benign 12.3 49143 chr6 75855899 75855899 C T rs370024636 COL12A1 Synonymous SNV Q329Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 17.07 49144 chr19 17389826 17389826 A G BABAM1 Nonsynonymous SNV D245G 0 0 0 2 0 0 0.005 0 0 0 0 0 18.74 49145 chr7 12675690 12675690 G A rs35385652 SCIN Nonsynonymous SNV R200Q 0.045 0.049 0.02 11 53 19 0.028 6 1 2 0 0 10.23 49146 chr7 122787316 122787316 G A rs139376972 SLC13A1 Nonsynonymous SNV R237C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.96 49147 chr7 12675713 12675713 T C rs17166250 SCIN Nonsynonymous SNV F208L 0.047 0.049 0.02 11 55 19 0.028 6 1 2 0 0 23.8 49148 chr7 142655008 142655008 G A rs8176058 KEL Nonsynonymous SNV T193M 0.055 0.06 0.027 30 65 23 0.077 8 3 0 0 3 Benign 24.7 49149 chr19 42343084 42343084 A G rs139542363 LYPD4 Synonymous SNV L28L 0.01 0.008 0.01 5 12 3 0.013 3 0 0 0 0 0.828 49150 chr7 139288937 139288937 C T rs34093649 HIPK2 Synonymous SNV L688L 0.043 0.049 0.041 18 51 19 0.046 12 1 0 1 2 13.88 49151 chr7 127668769 127668769 G T rs117070316 LRRC4 Nonsynonymous SNV T642N 0.033 0.034 0.027 9 39 13 0.023 8 0 0 0 0 20.5 49152 chr7 143053723 143053723 C T rs17854363 FAM131B Nonsynonymous SNV A241T 0.19 0.198 0.214 84 223 76 0.215 63 15 5 5 14 22.6 49153 chr19 42862324 42862324 C T rs758990105 MEGF8 Synonymous SNV H1613H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.43 49154 chr7 123593633 123593633 G A rs34404662 SPAM1 Synonymous SNV V3V 0.034 0.052 0.037 21 40 20 0.054 11 1 0 0 0 6.518 49155 chr7 123593764 123593764 T C rs34633019 SPAM1 Nonsynonymous SNV V47A 0.034 0.052 0.044 21 40 20 0.054 13 1 0 0 0 0.002 49156 chr7 143092269 143092269 G A rs34372369 EPHA1 Nonsynonymous SNV P697L 0.079 0.076 0.075 30 93 29 0.077 22 3 2 3 1 27.6 49157 chr6 82882103 82882103 C T rs16893967 IBTK Synonymous SNV L1293L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.25 49158 chr7 123595086 123595086 T C rs34978112 SPAM1 Synonymous SNV A330A 0.034 0.052 0.044 21 40 20 0.054 13 1 0 0 0 5.746 49159 chr6 82943970 82943970 A G rs115088772 IBTK Synonymous SNV H108H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.56 49160 chr7 141364712 141364712 G A rs2286150 DENND11 Synonymous SNV N365N 0.144 0.12 0.082 40 169 46 0.103 24 13 5 1 1 9.96 49161 chr6 84563477 84563477 C A rs769198703 RIPPLY2 Nonsynonymous SNV N53K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 49162 chr7 143208782 143208782 G C rs118077835 OR10AC1 Nonsynonymous SNV L75V 0.148 0.133 0.034 49 174 51 0.126 10 11 4 2 2 8.306 49163 chr7 143701516 143701516 C T rs7787378 OR6B1 Nonsynonymous SNV R143C 0.095 0.107 0.082 34 112 41 0.087 24 6 2 1 2 17.12 49164 chr19 17641667 17641667 G A rs74336438 NIBAN3 Synonymous SNV P53P 0.022 0.026 0.031 10 26 10 0.026 9 0 0 0 0 9.359 49165 chr7 128455834 128455834 A T rs189812175 CCDC136 Nonsynonymous SNV E1071V 0.017 0.021 0.007 0 20 8 0 2 0 0 0 0 20.5 49166 chr19 17650229 17650229 C A rs114207587 NIBAN3 Nonsynonymous SNV A19E 0.018 0.026 0.034 9 21 10 0.023 10 0 0 0 0 9.466 49167 chr19 17654182 17654182 G A rs76814516 NIBAN3 Synonymous SNV T219T 0.02 0.029 0.034 10 23 11 0.026 10 0 0 0 0 11.55 49168 chr19 17662616 17662616 G A rs76629753 NIBAN3 Nonsynonymous SNV R555Q 0.02 0.029 0.034 10 23 11 0.026 10 0 0 0 0 3.677 49169 chr7 44282928 44282928 G A rs17172630 CAMK2B Synonymous SNV F174F 0.108 0.122 0.092 31 127 47 0.079 27 8 4 1 2 9.816 49170 chr7 127224437 127224437 C T rs138102764 GCC1 Nonsynonymous SNV R267K 0.011 0.005 0.014 4 13 2 0.01 4 0 0 0 0 12.99 49171 chr7 44579184 44579184 G A rs117724326 NPC1L1 Nonsynonymous SNV A271V 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 0.164 49172 chr7 141724852 141724852 C T rs10255702 MGAM Synonymous SNV N295N 0.023 0.042 0.034 7 27 16 0.018 10 1 0 1 0 5.631 49173 chr7 143771557 143771557 T C rs61731397 OR2A25 Nonsynonymous SNV V82A 0.047 0.039 0.075 20 55 15 0.051 22 1 0 1 1 1.205 49174 chr7 44579185 44579185 C A rs139533378 NPC1L1 Nonsynonymous SNV A271S 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 0.007 49175 chr7 141727526 141727526 G T rs2272330 MGAM Nonsynonymous SNV Q404H 0.023 0.042 0.034 7 27 16 0.018 10 1 0 1 0 17.4 49176 chr7 128845511 128845511 G A rs111694017 SMO Nonsynonymous SNV V270I 0.008 0.01 0.014 0 9 4 0 4 0 0 0 0 Benign 15.14 49177 chr7 44579335 44579335 G A rs114376659 NPC1L1 Nonsynonymous SNV H221Y 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 9.408 49178 chr7 141732665 141732665 C T rs10266732 MGAM Nonsynonymous SNV S542L 0.002 0.003 0.017 2 2 1 0.005 5 0 0 0 0 22.8 49179 chr6 88769299 88769299 G A rs117078336 SPACA1 Synonymous SNV T201T 0.01 0.013 0.01 5 12 5 0.013 3 0 0 0 0 9.836 49180 chr11 5624521 5624521 A C rs61758095 TRIM6, TRIM6-TRIM34 Synonymous SNV A21A 0.037 0.013 0.024 17 44 5 0.044 7 2 0 0 0 4.969 49181 chr7 141853951 141853951 C T rs73158444 MGAM2 Nonsynonymous SNV P590S 0.104 0.099 0.092 47 122 38 0.121 27 4 1 1 5 14.38 49182 chr7 44715730 44715730 C T rs147519663 OGDH Synonymous SNV G396G 0.008 0.003 0 2 9 1 0.005 0 1 0 0 0 Benign 16.95 49183 chr7 100550247 100550247 C A rs77753678 MUC3A Synonymous SNV A276A 0.111 0.138 0.051 46 130 53 0.118 15 0 0 0 0 10.85 49184 chr7 128312463 128312463 C G rs74343948 FAM71F2 Nonsynonymous SNV I4M 0.135 0.117 0.139 56 159 45 0.144 41 9 3 4 3 23.5 49185 chr7 45005795 45005795 G A rs2269969 MYO1G Synonymous SNV H678H 0.177 0.159 0.184 83 208 61 0.213 54 22 6 7 9 11.08 49186 chr7 141955390 141955390 C T rs145731516 PRSS58 Synonymous SNV P48P 0.015 0.01 0.007 5 18 4 0.013 2 0 0 0 0 7.482 49187 chr7 45015107 45015107 G A rs61738857 MYO1G Synonymous SNV H180H 0.186 0.169 0.187 89 218 65 0.228 55 23 6 7 11 8.11 49188 chr7 45016621 45016621 C T rs61739531 MYO1G Nonsynonymous SNV V49M 0.188 0.172 0.19 88 221 66 0.226 56 23 6 7 11 25.7 49189 chr7 100551331 100551331 G T rs77979106 MUC3A Nonsynonymous SNV V638L 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 0.001 49190 chr19 18183095 18183095 C T rs117511121 IL12RB1 Nonsynonymous SNV R283Q 0.006 0.003 0.003 8 7 1 0.021 1 0 0 0 0 Benign 0.013 49191 chr7 100551332 100551332 T C rs77022449 MUC3A Nonsynonymous SNV V638A 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 0.001 49192 chr7 100551334 100551334 A T rs76311216 MUC3A Nonsynonymous SNV T639S 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 0.001 49193 chr7 142562051 142562051 - CCT rs143667567 EPHB6 S176_A177insS 0.026 0.036 0.017 16 30 14 0.041 5 0 0 0 1 49194 chr7 142563253 142563253 T G rs8177146 EPHB6 Nonsynonymous SNV S32A 0.026 0.036 0.014 16 31 14 0.041 4 0 0 0 1 1.07 49195 chr7 142565385 142565385 G A rs8177153 EPHB6 Synonymous SNV P298P 0.026 0.036 0.014 18 31 14 0.046 4 0 0 0 1 14.7 49196 chr7 1482101 1482101 C G rs12540098 MICALL2 Nonsynonymous SNV A480P 0.087 0.104 0.112 23 102 40 0.059 33 4 4 2 0 0.142 49197 chr7 142565776 142565776 G A rs2229873 EPHB6 Synonymous SNV T337T 0.026 0.036 0.014 16 31 14 0.041 4 0 0 0 1 11.76 49198 chr7 142570217 142570217 C T rs4987678 TRPV6 Synonymous SNV T641T 0.027 0.036 0.017 16 32 14 0.041 5 0 0 0 1 13.49 49199 chr7 1484587 1484587 C T rs80020804 MICALL2 Synonymous SNV P373P 0.049 0.057 0.054 10 58 22 0.026 16 0 1 0 0 12.69 49200 chr7 142605869 142605869 C A rs144573341 TRPV5 Nonsynonymous SNV Q667H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.77 49201 chr7 131194251 131194251 G A rs377310580 PODXL Nonsynonymous SNV T267M 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 20.2 49202 chr7 1486451 1486451 G A rs75056037 MICALL2 Nonsynonymous SNV A180V 0.055 0.065 0.071 10 65 25 0.026 21 1 0 0 0 1.489 49203 chr6 90472093 90472093 T C rs114281969 MDN1 Synonymous SNV L767L 0.009 0.01 0.01 5 11 4 0.013 3 0 0 0 0 9.917 49204 chr7 142609749 142609749 C T rs4252499 TRPV5 Nonsynonymous SNV A563T 0.027 0.031 0.014 13 32 12 0.033 4 0 0 0 0 18.31 49205 chr7 142609760 142609760 T C rs150034342 TRPV5 Nonsynonymous SNV N559S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 18.23 49206 chr7 142622714 142622714 G A rs4252435 TRPV5 Synonymous SNV T344T 0.113 0.104 0.082 36 133 40 0.092 24 12 1 1 2 7.513 49207 chr7 148921732 148921732 G A rs11547158 ZNF282 Nonsynonymous SNV R670Q 0.077 0.076 0.075 36 90 29 0.092 22 5 4 0 1 23.5 49208 chr7 142625249 142625249 T C rs4252418 TRPV5 Synonymous SNV T281T 0.114 0.104 0.085 36 134 40 0.092 25 12 1 1 2 0.004 49209 chr7 129110498 129110498 T A rs61746947 STRIP2 Nonsynonymous SNV V629D 0.037 0.023 0.024 15 44 9 0.038 7 2 0 0 0 32 49210 chr7 131241030 131241035 GGCGAC - rs11277659 PODXL P30_S31del 0.198 0.19 0.146 69 233 73 0.177 43 44 15 7 9 49211 chr7 142625882 142625882 G A rs4252412 TRPV5 Synonymous SNV Y222Y 0.113 0.104 0.082 36 133 40 0.092 24 12 1 1 2 7.265 49212 chr7 148936878 148936878 G T rs11548535 ZNF212 Nonsynonymous SNV E3D 0.029 0.036 0.037 12 34 14 0.031 11 4 3 0 1 25 49213 chr7 131241085 131241085 G A rs7780021 PODXL Synonymous SNV L12L 0.205 0.229 0.259 76 241 88 0.195 76 46 16 8 10 9.869 49214 chr7 45960323 45960323 C A rs6950868 IGFBP3 Synonymous SNV A139A 0.11 0.12 0.01 57 129 46 0.146 3 28 10 1 12 23.4 49215 chr7 148979323 148979323 C T rs61735518 ZNF783 Synonymous SNV A510A 0.093 0.086 0.092 41 109 33 0.105 27 6 4 0 1 13.95 49216 chr7 131815315 131815315 G A rs150228337 PLXNA4 Nonsynonymous SNV H1870Y 0.007 0.005 0.027 0 8 2 0 8 0 0 0 0 24.3 49217 chr7 148985897 148985897 C T rs17630156 LOC155060 0.09 0.086 0.092 39 106 33 0.1 27 6 4 0 1 2.804 49218 chr7 142723327 142723327 C T rs116336425 OR9A2 Nonsynonymous SNV R298Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.04 49219 chr7 142723477 142723477 T C rs112919100 OR9A2 Nonsynonymous SNV Y248C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.3 49220 chr7 47453540 47453540 C T rs148426711 TNS3 Synonymous SNV G214G 0.015 0.01 0.034 4 18 4 0.01 10 0 0 0 0 Benign 14.19 49221 chr7 149462642 149462642 G T rs61742446 ZNF467 Synonymous SNV R317R 0.038 0.049 0.041 16 45 19 0.041 12 0 0 0 0 7.727 49222 chr7 149474393 149474393 A G rs709061 SSPO 0.195 0.182 0.194 98 229 70 0.251 57 24 9 6 9 3.649 49223 chr19 18679351 18679351 C T rs11086117 KXD1 Synonymous SNV P147P 0.044 0.065 0.048 28 52 25 0.072 14 2 0 0 1 8.33 49224 chr7 149475926 149475926 G A rs17754559 SSPO 0.018 0.034 0.01 10 21 13 0.026 3 1 0 0 0 14.1 49225 chr7 149479335 149479335 G C rs855680 SSPO 0.091 0.086 0.095 42 107 33 0.108 28 5 2 2 3 9.882 49226 chr7 134645319 134645319 C T rs2230186 CALD1 Synonymous SNV R484R 0.054 0.055 0.075 19 63 21 0.049 22 2 1 2 1 15.44 49227 chr7 149480020 149480020 T C rs7795382 SSPO 0.008 0.008 0 6 9 3 0.015 0 0 0 0 0 7.386 49228 chr19 44590522 44590522 T C rs201406518 ZNF284 Synonymous SNV H297H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.378 49229 chr7 149480042 149480042 G A rs111458363 SSPO 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 16.17 49230 chr7 149480069 149480069 C T rs113627612 SSPO 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 13.51 49231 chr7 149482580 149482580 G A rs28386963 SSPO 0.006 0.01 0.007 7 7 4 0.018 2 0 0 0 0 8.678 49232 chr7 149484590 149484590 T C rs10262505 SSPO 0.061 0.055 0.095 45 72 21 0.115 28 2 0 2 0 11.16 49233 chr7 149484810 149484810 C G rs183605589 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 4.164 49234 chr7 149484818 149484818 A G rs200713309 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 0.739 49235 chr7 149484819 149484819 C T rs540214298 SSPO 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.16 49236 chr7 131193739 131193739 C T rs3212298 PODXL Nonsynonymous SNV V326I 0.057 0.049 0.048 23 67 19 0.059 14 2 1 0 0 0.001 49237 chr7 149484822 149484822 T C rs371360317 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 1.642 49238 chr19 19115131 19115131 G A rs766608654 SUGP2 Synonymous SNV P925P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 7.587 49239 chr7 149484959 149484959 G A rs112418142 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 10.48 49240 chr7 149484986 149484986 G T rs111316969 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 13.06 49241 chr7 149485031 149485031 C T rs112048473 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 11.83 49242 chr7 149485036 149485036 G A rs111557139 SSPO 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 15.89 49243 chr7 149485740 149485740 C T rs112445040 SSPO 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 10.5 49244 chr11 56511354 56511354 G A rs67042258 MIR6128 0 0 0.306 0 0 0 0 90 0 0 11 0 8.767 49245 chr6 99924048 99924048 G A rs75273675 USP45 Synonymous SNV L302L 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 11.62 49246 chr7 149485979 149485981 GAC - rs113462041 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 49247 chr7 149486294 149486294 A G rs855691 SSPO 0.083 0.073 0.092 35 97 28 0.09 27 3 1 2 2 6.49 49248 chr7 149486367 149486367 C A rs855692 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 1.318 49249 chr11 5688940 5688940 C T rs11038628 TRIM5 Nonsynonymous SNV G249D 0.047 0.026 0.068 17 55 10 0.044 20 4 0 1 0 0.178 49250 chr7 100176362 100176362 C T rs52833865 LRCH4 Nonsynonymous SNV V216I 0.01 0.016 0.014 6 12 6 0.015 4 0 0 0 0 Benign 9.77 49251 chr7 149486726 149486726 T C rs855695 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 4.322 49252 chr7 149487608 149487608 T G rs1635798 SSPO 0.112 0.104 0.109 50 131 40 0.128 32 6 2 2 3 20.6 49253 chr7 100226902 100226902 C T rs41303501 TFR2 Nonsynonymous SNV R284Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 49254 chr7 149487612 149487612 G A rs536427528 SSPO 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 9.999 49255 chr7 48313757 48313757 G A rs77190804 ABCA13 Synonymous SNV K1498K 0.081 0.068 0.068 22 95 26 0.056 20 2 1 0 0 3.747 49256 chr7 149487629 149487629 - CATGCG rs199597639 SSPO 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 49257 chr7 48313881 48313881 T C rs17712299 ABCA13 Nonsynonymous SNV F1540L 0.081 0.068 0.082 22 95 26 0.056 24 2 1 0 0 24.9 49258 chr7 135311041 135311041 A G NUP205 Synonymous SNV R1217R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.75 49259 chr7 149488290 149488290 G A rs1620442 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 8.501 49260 chr7 149488686 149488686 T G rs113792223 SSPO 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.744 49261 chr19 19625631 19625631 G A rs61743681 TSSK6 Synonymous SNV L202L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 6.662 49262 chr7 149488922 149488922 A G rs112612562 SSPO 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 8.512 49263 chr7 149488991 149488991 T C rs893601 SSPO 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 13.66 49264 chr7 100417409 100417409 G C rs192640017 EPHB4 Nonsynonymous SNV T356S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 15.44 49265 chr7 149489037 149489037 T C rs1635802 SSPO 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 1.903 49266 chr7 149489443 149489443 C A rs893603 SSPO 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 9.391 49267 chr7 149492732 149492732 C T rs112706894 SSPO 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 16.59 49268 chr7 149503843 149503843 T G rs10260959 SSPO 0.201 0.195 0.173 80 236 75 0.205 51 26 8 1 8 16.59 49269 chr7 100551516 100551516 A G rs113219051 MUC3A Synonymous SNV E699E 0.118 0.12 0.061 57 139 46 0.146 18 0 0 0 0 0.073 49270 chr7 149503917 149503920 GATA - rs66470151 SSPO 0.184 0.185 0.167 76 216 71 0.195 49 21 7 1 8 49271 chr7 100485957 100485957 T C rs747439448 SRRT Synonymous SNV Y835Y 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.07 49272 chr7 1478610 1478610 C T rs4580937 MICALL2 Nonsynonymous SNV R663H 0.02 0.021 0.017 3 23 8 0.008 5 0 0 0 0 Benign 3.402 49273 chr7 149513152 149513152 C T rs7791767 SSPO 0.175 0.169 0.153 73 206 65 0.187 45 19 6 3 10 4.815 49274 chr7 1479659 1479659 T C rs61287564 MICALL2 Nonsynonymous SNV K623R 0.02 0.021 0.017 3 23 8 0.008 5 0 0 0 0 0.094 49275 chr11 575461 575461 T A rs78082951 LOC143666 0 0 0.058 0 0 0 0 17 0 0 0 0 11.01 49276 chr7 1480280 1480280 C T rs58636013 MICALL2 Synonymous SNV P584P 0.02 0.021 0.017 3 23 8 0.008 5 0 0 0 0 11.37 49277 chr7 149515103 149515103 C T rs10250401 SSPO 0.173 0.164 0.143 71 203 63 0.182 42 21 5 2 10 10.75 49278 chr7 1480286 1480286 G A rs61741872 MICALL2 Synonymous SNV D582D 0.019 0.021 0.01 3 22 8 0.008 3 0 0 0 0 1.073 49279 chr7 149515775 149515775 C G rs1557955 SSPO 0.159 0.146 0.133 62 187 56 0.159 39 21 6 1 10 10.01 49280 chr7 149515796 149515796 C T rs1557956 SSPO 0.164 0.151 0.139 67 193 58 0.172 41 21 5 2 10 1.251 49281 chr7 50467941 50467941 C T rs61731356 IKZF1 Synonymous SNV N162N 0.05 0.047 0.068 15 59 18 0.038 20 2 1 0 0 10.13 49282 chr7 149516881 149516881 G T rs1005603 SSPO 0.172 0.167 0.139 72 202 64 0.185 41 19 6 2 10 13.95 49283 chr7 149518533 149518533 C - rs11353848 SSPO 0.17 0.161 0.146 70 200 62 0.179 43 19 6 2 10 49284 chr7 149519184 149519184 C T rs1008336 SSPO 0.156 0.138 0.15 68 183 53 0.174 44 19 5 2 10 10.23 49285 chr7 149521183 149521183 G A rs4389841 SSPO 0.17 0.159 0.15 70 200 61 0.179 44 19 5 2 10 9.94 49286 chr7 149521544 149521544 C T rs12673475 SSPO 0.173 0.159 0.15 70 203 61 0.179 44 19 5 2 10 9.413 49287 chr7 139102335 139102335 A C rs118183173 FMC1-LUC7L2, LUC7L2 Nonsynonymous SNV E287D 0.007 0.008 0.01 0 8 3 0 3 0 0 0 0 15.83 49288 chr7 149522162 149522162 G T rs62617122 SSPO 0.174 0.159 0.15 70 204 61 0.179 44 19 5 2 10 6.771 49289 chr7 149153057 149153057 G C rs73166027 ZNF777 Synonymous SNV T19T 0.032 0.047 0.037 16 38 18 0.041 11 1 0 1 0 1.526 49290 chr19 22154378 22154378 G A ZNF208 Nonsynonymous SNV S1153F 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 49291 chr7 149528262 149528262 C T rs10261977 SSPO 0.171 0.167 0.15 70 201 64 0.179 44 19 5 2 9 10.71 49292 chr7 149522083 149522083 T C rs377450560 SSPO 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.11 49293 chr19 23032037 23032037 G A rs796586734 ZNF723 Synonymous SNV L56L 0.026 0.016 0 10 30 6 0.026 0 0 0 0 0 6.278 49294 chr19 23032041 23032041 C A rs796213263 ZNF723 Nonsynonymous SNV Q58K 0.022 0.016 0 10 26 6 0.026 0 0 0 0 0 8.299 49295 chr11 58034597 58034597 C G rs56302613 OR10W1 Nonsynonymous SNV C245S 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 23.9 49296 chr19 23032045 23032045 G A rs796317212 ZNF723 Nonsynonymous SNV G59E 0.022 0.016 0 9 26 6 0.023 0 0 0 0 0 4.84 49297 chr19 23032050 23032050 G T rs796633262 ZNF723 Stop gain E61X 0.021 0.01 0 8 25 4 0.021 0 0 0 0 0 3.239 49298 chr19 23032052 23032052 G T rs73924714 ZNF723 Nonsynonymous SNV E61D 0.022 0.013 0 8 26 5 0.021 0 0 0 0 0 2.76 49299 chr11 58034651 58034651 C T rs7111538 OR10W1 Nonsynonymous SNV R227Q 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 23.2 49300 chr7 150034645 150034645 A T LRRC61 Nonsynonymous SNV D232V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.4 49301 chr7 150164155 150164155 T C rs61748320 GIMAP8 Synonymous SNV A123A 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 0.14 49302 chr19 45543500 45543500 G A CLASRP Synonymous SNV R10R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.975 49303 chr19 45567668 45567668 C A rs71352251 CLASRP Nonsynonymous SNV R335S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 16.6 49304 chr19 45659155 45659155 G C rs144764378 NKPD1 Nonsynonymous SNV D183E 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 24.9 49305 chr11 58125774 58125774 A G rs55810057 OR5B17 Nonsynonymous SNV Y257H 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 23.3 49306 chr7 138738249 138738249 C T rs61743965 ZC3HAV1 Synonymous SNV S921S 0.012 0.01 0.003 4 14 4 0.01 1 0 0 0 0 12.64 49307 chr7 5414017 5414017 G A rs369944823 TNRC18 Synonymous SNV A966A 0.013 0.01 0 5 15 4 0.013 0 0 0 0 0 Benign 5.94 49308 chr11 58317599 58317599 T C rs1802347 LPXN Synonymous SNV Q149Q 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 0.937 49309 chr7 138761034 138761034 G C rs2297241 ZC3HAV1 Nonsynonymous SNV H687Q 0.204 0.151 0.146 54 240 58 0.138 43 29 4 2 5 0.034 49310 chr7 140394558 140394558 G A rs147782813 ADCK2 Synonymous SNV E612E 0.013 0.005 0.007 3 15 2 0.008 2 0 0 0 0 8.546 49311 chr19 45900177 45900177 G T rs757198050 PPP1R13L Nonsynonymous SNV S113Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.7 49312 chr7 138764060 138764060 G A rs2236424 ZC3HAV1 Nonsynonymous SNV R543C 0.239 0.195 0.194 76 280 75 0.195 57 34 7 5 7 1.026 49313 chr19 46129999 46129999 C A rs1545040 EML2 Nonsynonymous SNV E119D 0.025 0.029 0.037 6 29 11 0.015 11 0 0 0 0 14.36 49314 chr7 138764145 138764145 T C rs2236425 ZC3HAV1 Synonymous SNV V514V 0.239 0.198 0.194 76 281 76 0.195 57 34 7 5 7 1.808 49315 chr7 138764233 138764233 C T rs2236426 ZC3HAV1 Nonsynonymous SNV R485K 0.204 0.148 0.146 55 239 57 0.141 43 29 4 2 5 0.021 49316 chr7 141464348 141464348 G A rs144467469 TAS2R3 Nonsynonymous SNV M130I 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 0.002 49317 chr7 100552452 100552452 T C rs112050489 MUC3A Synonymous SNV S1011S 0.193 0.232 0.17 82 226 89 0.21 50 0 0 0 0 0.04 49318 chr7 6080686 6080686 A T rs34909691 EIF2AK1 Nonsynonymous SNV L318H 0.055 0.049 0.034 15 64 19 0.038 10 3 0 0 0 0.999 49319 chr7 139726121 139726121 G A rs79970126 PARP12 Synonymous SNV N552N 0.097 0.107 0.058 37 114 41 0.095 17 5 3 3 1 8.201 49320 chr19 30018118 30018118 C G rs763904112 VSTM2B Nonsynonymous SNV A28G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23 49321 chr7 6189780 6189780 T C rs3764814 USP42 Synonymous SNV L651L 0.125 0.117 0.078 41 147 45 0.105 23 12 1 2 1 0.021 49322 chr7 6193521 6193521 G C rs61729726 USP42 Nonsynonymous SNV R779P 0.244 0.232 0.224 82 287 89 0.21 66 47 13 9 11 11.14 49323 chr7 151038887 151038887 C T rs113920358 NUB1 Nonsynonymous SNV R9C 0.09 0.115 0.119 41 106 44 0.105 35 11 5 3 6 14.49 49324 chr7 100661892 100661892 C G rs765238360 MUC12 Nonsynonymous SNV P5328R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.42 49325 chr7 6194274 6194274 T C rs6463529 USP42 Nonsynonymous SNV L1030P 0.194 0.182 0.16 65 228 70 0.167 47 29 5 4 9 9.226 49326 chr7 150873664 150873664 G T rs919533 ASB10 Nonsynonymous SNV P402T 0.026 0.031 0.024 8 30 12 0.021 7 0 0 0 0 8.81 49327 chr7 6227341 6227341 A G rs41282682 CYTH3 Synonymous SNV Y43Y 0.058 0.055 0.031 18 68 21 0.046 9 4 0 0 0 6.084 49328 chr19 46915091 46915091 T C rs74516985 CCDC8 Nonsynonymous SNV D326G 0.034 0.026 0.017 19 40 10 0.049 5 2 0 0 1 6.216 49329 chr7 150878106 150878106 G A rs61734407 ASB10 Synonymous SNV L342L 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 not provided 6.056 49330 chr19 46915702 46915702 C T rs35262679 CCDC8 Synonymous SNV R122R 0.068 0.055 0.105 36 80 21 0.092 31 2 1 0 3 7.962 49331 chr19 46997385 46997385 C A rs144644044 PNMA8B Synonymous SNV G446G 0.012 0.01 0.007 6 14 4 0.015 2 0 0 0 0 18.68 49332 chr7 100732852 100732852 G A rs78537898 TRIM56 Synonymous SNV P753P 0.032 0.029 0.031 20 38 11 0.051 9 0 0 0 1 7.149 49333 chr19 46998290 46998290 C T rs148479589 PNMA8B Nonsynonymous SNV G145R 0.012 0.01 0.007 6 14 4 0.015 2 0 0 0 0 5.325 49334 chr7 100855215 100855215 C G rs41281013 PLOD3 Nonsynonymous SNV D382H 0.031 0.021 0.014 4 36 8 0.01 4 0 0 0 0 Benign/Likely benign 20.5 49335 chr7 155150390 155150390 T C rs55989814 BLACE 0.018 0.023 0 6 21 9 0.015 0 0 1 0 0 0.003 49336 chr7 1515602 1515602 G A rs193130310 INTS1 Synonymous SNV A1828A 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 0.74 49337 chr11 59630098 59630098 G A rs144166853 TCN1 Synonymous SNV I119I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.08 49338 chr7 151878144 151878144 C T KMT2C Synonymous SNV R2267R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.71 49339 chr7 152346007 152346007 C T rs3218536 XRCC2 Nonsynonymous SNV R188H 0.092 0.099 0.071 35 108 38 0.09 21 7 1 0 1 Benign 15.95 49340 chr7 6449967 6449967 T G rs77154720 DAGLB Synonymous SNV G409G 0.047 0.06 0.037 17 55 23 0.044 11 3 2 0 0 0.013 49341 chr7 6476104 6476104 G A rs117103601 DAGLB Nonsynonymous SNV A103V 0.047 0.06 0.037 17 55 23 0.044 11 3 2 0 0 13.34 49342 chr7 155755861 155755861 C T rs79910146 LOC389602 Nonsynonymous SNV T113M 0.032 0.039 0.014 11 37 15 0.028 4 0 1 0 0 0.029 49343 chr7 64863392 64863392 C T rs10265083 ZNF92 Nonsynonymous SNV A46V 0.208 0.203 0.194 61 244 78 0.156 57 20 8 7 2 4.155 49344 chr7 100610069 100610069 C A rs10258821 MUC3A Nonsynonymous SNV H1462N 0.037 0.034 0.041 13 43 13 0.033 12 0 0 0 0 9.061 49345 chr7 64864607 64864607 G A rs10239197 ZNF92 Nonsynonymous SNV R451H 0.21 0.203 0.143 61 246 78 0.156 42 21 8 7 2 6.73 49346 chr7 141955128 141955128 C T rs1894317 PRSS58 Synonymous SNV K61K 0.131 0.128 0.146 56 154 49 0.144 43 9 3 3 3 9.797 49347 chr7 14217673 14217673 G A rs6966154 DGKB Synonymous SNV C724C 0.152 0.143 0.15 64 179 55 0.164 44 17 1 3 8 4.59 49348 chr7 105656471 105656471 G A rs143495908 CDHR3 Nonsynonymous SNV A388T 0.017 0.016 0.014 6 20 6 0.015 4 0 0 0 0 20.8 49349 chr7 6731672 6731672 G C rs61731528 ZNF12 Nonsynonymous SNV Q301E 0.044 0.047 0.037 11 52 18 0.028 11 3 1 0 0 10.6 49350 chr11 60184277 60184277 A C rs73481226 MS4A14 Nonsynonymous SNV Q595H 0.016 0.018 0.027 2 19 7 0.005 8 0 0 0 0 13.42 49351 chr7 142625258 142625258 G A rs4252417 TRPV5 Synonymous SNV Y278Y 0.045 0.039 0.027 16 53 15 0.041 8 5 1 0 1 2.971 49352 chr7 155530954 155530954 T C rs2178428 RBM33 Synonymous SNV L532L 0.233 0.237 0.241 101 273 91 0.259 71 32 13 6 11 1.044 49353 chr7 155531080 155531080 A G rs3735576 RBM33 Nonsynonymous SNV T574A 0.233 0.237 0.245 101 273 91 0.259 72 33 13 6 11 0.623 49354 chr19 35250655 35250655 G A rs146248056 ZNF599 Nonsynonymous SNV R351C 0.004 0.016 0.003 5 5 6 0.013 1 0 0 0 0 23.1 49355 chr7 73011552 73011552 C T rs200967567 MLXIPL Synonymous SNV A521A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 14.8 49356 chr19 47984236 47984236 C T rs61743291 KPTN Synonymous SNV P112P 0.026 0.016 0.01 4 31 6 0.01 3 0 0 1 0 Benign 12.52 49357 chr7 142625933 142625933 G A rs4252411 TRPV5 Synonymous SNV L205L 0.045 0.039 0.031 16 53 15 0.041 9 5 1 0 1 9.163 49358 chr7 73012042 73012042 G A rs35332062 MLXIPL Nonsynonymous SNV A358V 0.107 0.13 0.037 54 126 50 0.138 11 7 2 0 4 18.4 49359 chr7 73013901 73013901 C T rs13235543 MLXIPL Synonymous SNV P342P 0.109 0.13 0.058 54 128 50 0.138 17 7 2 0 4 6.53 49360 chr7 142626656 142626656 C T rs4252407 TRPV5 Synonymous SNV Q118Q 0.045 0.039 0.031 16 53 15 0.041 9 5 1 0 1 13.27 49361 chr7 73020337 73020337 C G rs3812316 MLXIPL Nonsynonymous SNV Q241H 0.106 0.13 0.061 54 125 50 0.138 18 7 2 1 4 19.07 49362 chr7 142636704 142636704 T C rs11977017 LLCFC1 Nonsynonymous SNV W21R 0.092 0.076 0.071 28 108 29 0.072 21 9 1 1 2 0.001 49363 chr7 142640596 142640596 T G rs8176036 KEL Synonymous SNV P560P 0.043 0.036 0.024 16 51 14 0.041 7 5 1 0 1 8.377 49364 chr7 1595068 1595068 G A rs17852421 TMEM184A Nonsynonymous SNV A18V 0.149 0.115 0.116 48 175 44 0.123 34 14 4 3 5 0.526 49365 chr19 35501051 35501051 T C rs2290642 GRAMD1A Synonymous SNV S120S 0.085 0.102 0.099 46 100 39 0.118 29 4 3 0 4 4.267 49366 chr7 1476379 1476379 G A rs201856385 MICALL2 Nonsynonymous SNV R864W 0.008 0 0 2 9 0 0.005 0 0 0 0 0 29.7 49367 chr7 142983295 142983295 G A rs146790657 TMEM139 Nonsynonymous SNV R82Q 0.033 0.026 0.003 8 39 10 0.021 1 1 1 0 0 24.9 49368 chr7 1785535 1785535 G A rs768011818 ELFN1 Nonsynonymous SNV A435T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 20 49369 chr7 1785738 1785738 G A rs61236605 ELFN1 Synonymous SNV A502A 0.227 0.216 0.18 87 266 83 0.223 53 35 8 3 10 0.141 49370 chr7 18066569 18066569 C A rs3800962 PRPS1L1 Nonsynonymous SNV E279D 0.362 0.315 0.388 119 425 121 0.305 114 71 12 27 12 7.166 49371 chr7 148990858 148990858 C T rs111503085 LOC155060 0.03 0.031 0.031 13 35 12 0.033 9 0 0 0 1 4.94 49372 chr7 73474825 73474825 G C rs17855988 ELN Nonsynonymous SNV G500R 0.092 0.083 0.088 37 108 32 0.095 26 6 0 3 3 Benign 23.2 49373 chr7 18697589 18697589 A G rs6973063 HDAC9 Nonsynonymous SNV E525G 0.171 0.169 0 70 201 65 0.179 0 18 4 0 7 3.219 49374 chr7 18697666 18697666 G T rs73683127 HDAC9 0.093 0.086 0 25 109 33 0.064 0 6 0 0 1 1.382 49375 chr7 18697667 18697667 T A rs73683128 HDAC9 0.093 0.086 0 25 109 33 0.064 0 6 0 0 1 4.121 49376 chr11 60699533 60699533 C T rs61745629 TMEM132A Synonymous SNV G431G 0.012 0.021 0.01 2 14 8 0.005 3 0 0 0 0 16.39 49377 chr7 143080060 143080060 A T rs11978404 ZYX Nonsynonymous SNV H192L 0.055 0.049 0.024 21 64 19 0.054 7 3 1 0 0 0.024 49378 chr7 18767343 18767343 A G rs1178127 HDAC9 Synonymous SNV P580P 0.267 0.271 0.245 95 313 104 0.244 72 48 11 9 11 Benign 6.433 49379 chr7 19184746 19184746 - TCT rs71017023 FERD3L E81_R82insE 0.278 0.276 0.201 97 326 106 0.249 59 45 22 8 9 49380 chr11 607394 607394 G C rs138408584 PHRF1 Synonymous SNV A646A 0.015 0.01 0.007 1 18 4 0.003 2 0 0 0 0 7.037 49381 chr7 103293165 103293165 C T rs41276154 RELN Synonymous SNV Q532Q 0.023 0.016 0.014 10 27 6 0.026 4 0 0 0 0 Benign 11.72 49382 chr7 74105424 74105424 A G rs143931854 GTF2I Synonymous SNV Q73Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.132 49383 chr7 7493097 7493097 C G rs17167927 COL28A1 Nonsynonymous SNV A472P 0.016 0.005 0.007 3 19 2 0.008 2 0 0 0 0 18.47 49384 chr7 7514235 7514235 C G rs6952195 COL28A1 Nonsynonymous SNV E433D 0.253 0.25 0.272 105 297 96 0.269 80 32 15 10 11 10.15 49385 chr7 7545691 7545691 G C rs10486176 COL28A1 Nonsynonymous SNV T327S 0.128 0.115 0.112 44 150 44 0.113 33 8 4 2 3 4.778 49386 chr7 149561323 149561323 G A rs62621237 ZNF862 Nonsynonymous SNV E1154K 0.038 0.031 0.031 9 45 12 0.023 9 0 0 0 0 10.36 49387 chr7 16655387 16655387 C T rs11540037 ANKMY2 Synonymous SNV T171T 0.253 0.188 0.204 91 297 72 0.233 60 34 8 6 10 13.33 49388 chr11 60906279 60906279 G T rs80029472 VPS37C Nonsynonymous SNV T8N 0.024 0.016 0.044 8 28 6 0.021 13 1 0 0 0 24.8 49389 chr7 75612858 75612858 C T rs72557938 POR Nonsynonymous SNV P284L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 33 49390 chr7 11676107 11676107 G A rs61996270 THSD7A Synonymous SNV P224P 0.057 0.036 0.075 11 67 14 0.028 22 2 0 3 0 9.567 49391 chr7 100552050 100552050 A G rs200797612 MUC3A Synonymous SNV P877P 0.094 0.122 0.082 33 110 47 0.085 24 0 0 0 0 0.823 49392 chr7 21584651 21584651 G C DNAH11 Nonsynonymous SNV V127L 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 12.97 49393 chr19 35828914 35828914 G C rs145621000 CD22 Synonymous SNV L153L 0.025 0.018 0.007 13 29 7 0.033 2 0 0 0 0 0.027 49394 chr7 75958912 75958912 G A rs73703133 YWHAG Synonymous SNV G242G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 7.62 49395 chr7 76019590 76019590 C T rs10227141 SSC4D Nonsynonymous SNV R505Q 0.037 0.047 0.01 24 43 18 0.062 3 1 1 0 2 26 49396 chr19 35940919 35940919 G A rs61744093 FFAR2 Synonymous SNV A101A 0.007 0.008 0.01 5 8 3 0.013 3 0 0 0 0 15.68 49397 chr7 150217335 150217335 G T rs3735079 GIMAP7 Synonymous SNV G91G 0.109 0.12 0.075 40 128 46 0.103 22 10 2 1 1 2.23 49398 chr7 76029760 76029760 G A rs73361550 SSC4D Synonymous SNV P106P 0.037 0.047 0.01 24 43 18 0.062 3 1 1 0 2 6.958 49399 chr7 150269542 150269542 G T rs2293172 GIMAP4 Nonsynonymous SNV E142D 0.128 0.143 0.122 53 150 55 0.136 36 13 2 2 4 7.695 49400 chr11 614367 614367 T C rs11246214 IRF7 Synonymous SNV T175T 0.078 0.06 0.071 26 91 23 0.067 21 5 0 1 1 0.016 49401 chr7 150389593 150389593 T C rs1860871 GIMAP2 Synonymous SNV I73I 0.083 0.081 0.082 34 97 31 0.087 24 6 0 0 2 1.764 49402 chr7 7625367 7625367 A G rs117761453 MIOS Synonymous SNV L583L 0.014 0.005 0.007 3 17 2 0.008 2 0 0 0 0 Benign 1.782 49403 chr7 144094418 144094418 T C rs77802098 NOBOX Nonsynonymous SNV K664R 0.058 0.052 0.095 27 68 20 0.069 28 1 0 3 2 Benign/Likely benign 0.002 49404 chr7 21945958 21945958 G A rs6958820 CDCA7L Synonymous SNV A244A 0.021 0.042 0.034 14 25 16 0.036 10 0 1 1 0 15.14 49405 chr11 615103 615103 G A rs113083699 IRF7 Synonymous SNV I72I 0.078 0.057 0.071 26 91 22 0.067 21 5 0 1 1 9.89 49406 chr7 76828953 76828953 C T rs2075761 FGL2 Nonsynonymous SNV G53E 0.068 0.115 0.082 25 80 44 0.064 24 3 3 2 1 0.929 49407 chr7 150493495 150493495 G A rs11546671 TMEM176B Nonsynonymous SNV P55S 0.033 0.031 0.01 14 39 12 0.036 3 5 1 0 0 11.5 49408 chr11 61645058 61645058 G A rs200549776 FADS3 Synonymous SNV I270I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 49409 chr7 76950686 76950686 C A rs17151689 GSAP Nonsynonymous SNV W406L 0.07 0.049 0.051 28 82 19 0.072 15 2 0 2 2 29.9 49410 chr7 23296513 23296513 G C rs774172804 GPNMB Nonsynonymous SNV A124P 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 0.329 49411 chr7 77256713 77256713 A G rs3750050 PTPN12 Nonsynonymous SNV T443A 0.227 0.201 0.184 77 267 77 0.197 54 27 10 6 5 0.005 49412 chr7 21775387 21775387 T C rs2072220 DNAH11 Synonymous SNV L2524L 0.062 0.034 0.068 19 73 13 0.049 20 7 1 0 0 Benign/Likely benign 0.075 49413 chr7 150645534 150645534 T G rs1805123 KCNH2 Nonsynonymous SNV K557T 0.25 0.25 0.255 91 294 96 0.233 75 33 11 13 9 Benign 16.46 49414 chr7 23775454 23775454 G A rs10264952 STK31 Nonsynonymous SNV E238K 0.204 0.18 0.221 81 240 69 0.208 65 29 7 7 11 11.78 49415 chr7 149133916 149133916 C T rs11762125 ZNF777 Synonymous SNV A363A 0.121 0.141 0.146 51 142 54 0.131 43 9 7 6 2 6.24 49416 chr7 23775477 23775477 G T rs10264967 STK31 Nonsynonymous SNV K245N 0.204 0.18 0.221 81 240 69 0.208 65 29 7 7 11 13.02 49417 chr7 149171907 149171907 C T rs770396912 ZNF746 Synonymous SNV G502G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 7.681 49418 chr7 149473614 149473614 A G rs117048984 SSPO 0.06 0.044 0.041 26 70 17 0.067 12 1 1 0 0 16.09 49419 chr7 80301310 80301310 T G rs56381858 CD36 Stop gain L321X 0.008 0.01 0.01 1 9 4 0.003 3 0 0 0 0 Uncertain significance 39 49420 chr7 150915948 150915948 C T rs7782699 ABCF2, LOC114483834 Synonymous SNV A343A 0.108 0.148 0.143 48 127 57 0.123 42 9 5 0 3 18.59 49421 chr7 2472875 2472875 C T rs150119279 CHST12 Nonsynonymous SNV R201C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.7 49422 chr7 127222278 127222278 G A rs141951933 GCC1 Synonymous SNV I706I 0.003 0.01 0 0 3 4 0 0 0 0 0 0 9.405 49423 chr7 127223059 127223059 G A rs774525979 GCC1 Nonsynonymous SNV A446V 0.003 0 0 0 3 0 0 0 0 0 0 0 28.3 49424 chr7 151877127 151877127 G T rs13231116 KMT2C Nonsynonymous SNV P2412T 0.051 0.049 0.037 12 60 19 0.031 11 1 1 0 0 not provided 3.632 49425 chr19 49838830 49838830 C T rs769571638 CD37 Synonymous SNV I11I 0 0 0 0 0 0 0 0 0 0 0 0 14.83 49426 chr7 25182373 25182373 C T rs17150982 C7orf31 Nonsynonymous SNV A249T 0.045 0.042 0.031 20 53 16 0.051 9 1 0 0 0 28.2 49427 chr7 117188850 117188850 G T rs79074685 CFTR Synonymous SNV A455A 0.09 0.078 0.003 15 106 30 0.038 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.71 49428 chr11 62291953 62291953 A T rs61895404 AHNAK Nonsynonymous SNV D3312E 0.014 0.01 0.017 8 16 4 0.021 5 0 0 0 1 11.82 49429 chr7 128040466 128040466 C T rs745455593 IMPDH1 Nonsynonymous SNV G126D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 49430 chr7 26192337 26192337 C G rs576398496 NFE2L3 Nonsynonymous SNV H73Q 0.011 0.003 0 0 13 1 0 0 0 0 0 0 0.002 49431 chr19 49933899 49933899 G A rs112656149 SLC17A7 Synonymous SNV D520D 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 8.041 49432 chr7 120629916 120629916 A G rs117047013 CPED1 Nonsynonymous SNV T81A 0.009 0.01 0 3 11 4 0.008 0 0 0 0 0 17.04 49433 chr7 2629671 2629671 G A rs113614660 IQCE Nonsynonymous SNV R327H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 4.753 49434 chr7 24742436 24742436 T C rs17149912 GSDME Synonymous SNV A236A 0.171 0.164 0.136 78 201 63 0.2 40 23 3 2 8 Benign 3.749 49435 chr7 2629729 2629729 G A rs61753096 IQCE Synonymous SNV L346L 0.09 0.109 0.105 28 106 42 0.072 31 7 0 0 1 5.308 49436 chr7 86795881 86795883 TGA - rs148453627 DMTF1 D66del 0.037 0.055 0.068 8 43 21 0.021 20 1 1 0 0 49437 chr19 36380804 36380804 C T NFKBID Synonymous SNV P307P 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 16.26 49438 chr7 128478103 128478103 C T rs2291562 FLNC Synonymous SNV V344V 0.052 0.036 0.041 23 61 14 0.059 12 0 1 0 2 Benign 18.94 49439 chr7 25266343 25266343 C A NPVF Nonsynonymous SNV L147F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.27 49440 chr7 128480123 128480123 C A rs2291563 FLNC Synonymous SNV P486P 0.037 0.023 0.034 15 44 9 0.038 10 1 0 0 1 Benign 16.82 49441 chr7 87179809 87179809 C T rs2229109 ABCB1 Nonsynonymous SNV S400N 0.071 0.052 0.054 16 83 20 0.041 16 2 0 2 0 Benign 14.05 49442 chr19 49994109 49994109 G A rs113259739 RPL13A Synonymous SNV P49P 0.011 0.01 0 3 13 4 0.008 0 0 0 0 0 13.61 49443 chr7 128486446 128486446 C T rs75770585 FLNC Synonymous SNV R1352R 0.055 0.036 0.041 24 65 14 0.062 12 0 1 0 2 Benign 9.584 49444 chr19 50100484 50100484 G A rs77535345 PRR12 Synonymous SNV K964K 0.043 0.042 0.051 22 51 16 0.056 15 1 0 0 1 7.217 49445 chr7 128487893 128487893 G A rs2291568 FLNC Synonymous SNV L1477L 0.055 0.039 0.044 23 64 15 0.059 13 0 1 0 2 Benign 10.83 49446 chr19 50104948 50104948 C A rs142810131 PRR12 Nonsynonymous SNV P1516T 0.035 0.031 0.02 20 41 12 0.051 6 1 0 0 1 8.584 49447 chr7 128490046 128490046 C T rs745650222 FLNC Nonsynonymous SNV P1739L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 20.8 49448 chr7 27213827 27213827 C A rs202173149 HOXA10 Synonymous SNV S33S 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 18.65 49449 chr19 50124798 50124798 C T rs60445174 PRR12 Synonymous SNV P1880P 0.011 0.013 0.017 6 13 5 0.015 5 0 0 0 0 9.356 49450 chr7 128491603 128491603 T C rs3816884 FLNC Synonymous SNV T1888T 0.056 0.039 0.044 23 66 15 0.059 13 0 1 0 2 Benign 0.021 49451 chr7 128495338 128495338 C T rs3816885 FLNC Synonymous SNV D2374D 0.054 0.036 0.044 23 63 14 0.059 13 0 1 0 2 Benign 12.87 49452 chr11 6262703 6262703 A G CNGA4 Synonymous SNV V320V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.342 49453 chr7 88963039 88963039 G A rs1916830 ZNF804B Nonsynonymous SNV C248Y 0.01 0.008 0.01 6 12 3 0.015 3 0 0 1 0 7.247 49454 chr7 128612552 128612552 C T rs11538884 TNPO3 Synonymous SNV L722L 0.045 0.031 0.051 13 53 12 0.033 15 1 1 0 0 Benign 16.16 49455 chr7 128614990 128614990 G A rs2293493 TNPO3 Synonymous SNV L671L 0.045 0.031 0.048 13 53 12 0.033 14 1 1 0 0 Benign 12.69 49456 chr11 62751852 62751852 G A rs11568627 SLC22A6 Nonsynonymous SNV P104L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 26.8 49457 chr19 50167726 50167726 C G rs2304207 IRF3 Nonsynonymous SNV V12L 0.17 0.182 0.184 75 200 70 0.192 54 13 9 4 7 5.047 49458 chr19 50212024 50212024 C T rs61747405 CPT1C Synonymous SNV D498D 0.014 0.016 0.01 4 17 6 0.01 3 0 0 0 0 Benign 17.19 49459 chr7 27168882 27168882 G T rs201659767 HOXA4 Nonsynonymous SNV H309N 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 10.55 49460 chr7 129330353 129330353 C T rs3735006 NRF1 Synonymous SNV D30D 0.066 0.099 0.054 17 77 38 0.044 16 4 1 1 0 15.64 49461 chr7 156799081 156799081 T C rs2270210 MNX1-AS2 0.076 0.049 0.054 28 89 19 0.072 16 7 0 1 4 6.207 49462 chr19 50386140 50386140 C T rs146598967 TBC1D17 Synonymous SNV I273I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.45 49463 chr7 12610451 12610451 G A rs76096341 SCIN Synonymous SNV A13A 0.061 0.047 0.051 20 72 18 0.051 15 1 1 0 0 10.52 49464 chr7 299863 299863 C T rs62644536 FAM20C Nonsynonymous SNV R558W 0.07 0.096 0.058 29 82 37 0.074 17 3 3 0 0 Benign 25.6 49465 chr7 2752059 2752059 C T rs55919423 AMZ1 Stop gain R292X 0.03 0.023 0.031 13 35 9 0.033 9 0 0 0 1 11.33 49466 chr7 2752110 2752110 G A rs145061913 AMZ1 Synonymous SNV S365S 0.013 0.016 0.007 5 15 6 0.013 2 0 0 0 0 5.488 49467 chr7 27702390 27702390 C A rs11550134 HIBADH Synonymous SNV R6R 0.205 0.172 0.048 71 241 66 0.182 14 43 11 6 12 17.05 49468 chr19 50455180 50455180 C T rs45438992 SIGLEC11 Nonsynonymous SNV D504N 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 8.654 49469 chr7 127341296 127341296 T G rs144027003 SND1 Nonsynonymous SNV S170A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 9.957 49470 chr7 158531752 158531752 C T rs61747457 ESYT2 Synonymous SNV S722S 0.022 0.034 0.014 8 26 13 0.021 4 0 0 0 0 15.79 49471 chr7 91727479 91727479 A T rs139046510 AKAP9 Nonsynonymous SNV D3555V 0.003 0.016 0 1 3 6 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 49472 chr19 50510972 50510992 CTGGTCTTCTGAGGGCTACAG - rs3217382 VRK3 S77_T83del 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 49473 chr7 91793212 91793212 G A rs117809044 LRRD1 Synonymous SNV D435D 0.02 0.016 0.007 7 23 6 0.018 2 0 0 0 0 0.003 49474 chr7 295960 295960 T A rs144007479 FAM20C Synonymous SNV P406P 0.031 0.026 0.061 12 36 10 0.031 18 1 0 0 0 Benign 12.94 49475 chr7 30695202 30695202 C T rs2240403 CRHR2 Synonymous SNV S348S 0.141 0.125 0.126 59 165 48 0.151 37 9 4 1 5 12.97 49476 chr7 92051544 92051544 A G rs17164547 TMBIM7P 0.014 0.023 0 3 16 9 0.008 0 0 0 0 0 8.454 49477 chr7 92077203 92077203 G A rs10281879 GATAD1 Nonsynonymous SNV G54S 0.115 0.138 0.136 29 135 53 0.074 40 6 5 4 1 Benign 0.228 49478 chr7 29923970 29923970 A T rs174965 WIPF3 Nonsynonymous SNV Q287L 0.037 0.049 0.027 20 43 19 0.051 8 4 1 2 1 0.035 49479 chr7 92098776 92098776 C T rs10266695 ERVW-1 Nonsynonymous SNV S307N 0.178 0.232 0.211 61 209 89 0.156 62 18 10 9 2 0.072 49480 chr7 30831088 30831088 G A rs35897481 MINDY4 Nonsynonymous SNV R324K 0.106 0.117 0.153 38 125 45 0.097 45 8 2 5 0 0.013 49481 chr7 18694434 18694434 C T rs4721715 HDAC9 Nonsynonymous SNV H504Y 0.154 0.122 0 57 181 47 0.146 0 14 3 0 7 3.747 49482 chr19 50905042 50905042 G A rs20582 POLD1 Synonymous SNV A108A 0.123 0.086 0.112 40 144 33 0.103 33 14 0 2 1 Benign 9.177 49483 chr7 18694435 18694435 A C rs4721716 HDAC9 Nonsynonymous SNV H504P 0.154 0.122 0 57 181 47 0.146 0 14 3 0 7 4.896 49484 chr7 150698349 150698349 G A rs150935488 NOS3 Nonsynonymous SNV A422T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 15.14 49485 chr7 103838230 103838230 C T rs145267296 ORC5 Synonymous SNV E128E 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 16.9 49486 chr19 50905074 50905074 G A rs1726801 POLD1 Nonsynonymous SNV R119H 0.123 0.086 0.112 40 144 33 0.103 33 14 0 2 1 Benign 0.032 49487 chr7 30634630 30634630 G C rs2529438 GARS1 Synonymous SNV L31L 0.12 0.104 0.116 55 141 40 0.141 34 9 4 2 5 Benign 1.578 49488 chr7 150732812 150732812 C T rs17545756 ABCB8 Nonsynonymous SNV R216C 0.049 0.036 0.065 12 57 14 0.031 19 2 0 0 0 35 49489 chr7 92099283 92099283 C T rs55903518 ERVW-1 Nonsynonymous SNV R138Q 0.049 0.065 0.065 9 58 25 0.023 19 1 1 1 0 2.487 49490 chr7 150742408 150742408 G T rs59397762 ABCB8 Nonsynonymous SNV G622V 0.047 0.036 0.065 12 55 14 0.031 19 2 0 0 0 12.62 49491 chr7 30649268 30649268 C T rs2230310 GARS1 Nonsynonymous SNV T214I 0.019 0.01 0.007 5 22 4 0.013 2 1 0 0 0 Benign/Likely benign 32 49492 chr7 133906669 133906669 C T rs35149449 LRGUK Nonsynonymous SNV A661V 0.095 0.089 0.078 35 112 34 0.09 23 8 0 0 2 6.581 49493 chr7 150747650 150747650 G T rs62001897 ASIC3 Synonymous SNV G256G 0.049 0.036 0.058 12 58 14 0.031 17 2 0 0 0 6.814 49494 chr7 92132493 92132493 T C rs35996821 PEX1 Nonsynonymous SNV I639M 0.049 0.065 0.065 9 58 25 0.023 19 1 1 1 0 Benign/Likely benign 7.447 49495 chr7 92760738 92760738 T G rs10282508 SAMD9L Nonsynonymous SNV N1516T 0.03 0.029 0.034 14 35 11 0.036 10 1 0 0 1 0.531 49496 chr7 150873754 150873754 G A rs62489646 ASB10 Nonsynonymous SNV R372C 0.081 0.06 0.048 28 95 23 0.072 14 1 1 0 1 Benign 23.2 49497 chr7 92764982 92764982 C T rs1133906 SAMD9L Synonymous SNV Q101Q 0.09 0.112 0.116 41 106 43 0.105 34 6 3 2 1 0.929 49498 chr7 134849209 134849209 C T rs292500 TMEM140 Nonsynonymous SNV P6S 0.032 0.021 0.024 17 38 8 0.044 7 0 0 0 1 5.58 49499 chr7 93518486 93518486 C T rs34489123 TFPI2 Synonymous SNV E96E 0.047 0.044 0.034 6 55 17 0.015 10 0 0 0 0 7.507 49500 chr7 150878332 150878332 G A rs61743170 ASB10 Synonymous SNV A266A 0.086 0.068 0.048 30 101 26 0.077 14 2 1 0 1 Benign 0.045 49501 chr11 6411931 6411954 CTGGTGCTGGCGCTGGCGCTGGCG - rs550067660 SMPD1 V36_L43del 0.001 0.003 0.01 3 1 1 0.008 3 0 0 0 0 49502 chr11 6411934 6411934 - CGC rs767539123 SMPD1 V36delinsAL 0.018 0.005 0.01 1 21 2 0.003 3 0 0 0 0 49503 chr11 6411935 6411935 - GGC rs775568984 SMPD1 V36_L37insA 0 0 0.003 0 0 0 0 1 0 0 0 0 49504 chr7 30951843 30951843 G A rs35804488 AQP1 Nonsynonymous SNV V107I 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 24.1 49505 chr7 21775398 21775398 C T rs753465818 DNAH11 Synonymous SNV L2527L 0.003 0 0 7 4 0 0.018 0 0 0 0 0 9.195 49506 chr7 94539536 94539536 C T rs12536183 PPP1R9A Synonymous SNV P37P 0.106 0.112 0.095 38 125 43 0.097 28 10 2 0 2 9.003 49507 chr7 32997332 32997332 C T rs141599067 FKBP9 Synonymous SNV R49R 0.011 0.005 0.003 1 13 2 0.003 1 0 0 0 0 18.01 49508 chr7 33075573 33075573 A G rs17170223 NT5C3A Synonymous SNV N3N 0.029 0.031 0.017 6 34 12 0.015 5 0 0 0 0 21.6 49509 chr7 21956405 21956405 G A rs1128250 CDCA7L Synonymous SNV C44C 0.234 0.221 0.177 90 275 85 0.231 52 28 11 2 8 12.26 49510 chr7 95125345 95125345 T C rs942276713 ASB4 Nonsynonymous SNV C155R 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 26.5 49511 chr7 2289586 2289586 G A rs4866 NUDT1 Nonsynonymous SNV V83M 0.03 0.016 0.027 8 35 6 0.021 8 1 0 0 0 25.9 49512 chr7 135418881 135418881 C T rs113477191 FAM180A Nonsynonymous SNV D122N 0.011 0.013 0.024 9 13 5 0.023 7 0 0 0 0 33 49513 chr7 34889182 34889182 A G rs6972158 NPSR1 Nonsynonymous SNV Q278R 0.319 0.323 0.354 128 375 124 0.328 104 66 22 17 23 16.15 49514 chr7 34889222 34889222 T C rs10275028 NPSR1 X391R 0.319 0.32 0.354 128 375 123 0.328 104 66 22 17 23 0.802 49515 chr7 23306141 23306141 G A rs75801644 GPNMB Nonsynonymous SNV A354T 0.04 0.042 0.044 9 47 16 0.023 13 0 0 0 1 0.344 49516 chr19 38795550 38795550 - AAGAAGGAGAAGGGC rs147127327 C19orf33 K101_K102insEKGKK 0.043 0.055 0.044 18 50 21 0.046 13 1 0 1 0 49517 chr19 38800176 38800176 G A rs11556992 YIF1B Nonsynonymous SNV P41S 0.042 0.055 0.041 18 49 21 0.046 12 1 0 1 0 9.89 49518 chr7 23313745 23313745 C T rs78340800 GPNMB Synonymous SNV L541L 0.007 0.005 0.017 4 8 2 0.01 5 0 0 0 0 Benign 8.743 49519 chr7 98246958 98246958 C T rs115375965 NPTX2 Nonsynonymous SNV A62V 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 25.7 49520 chr19 51363278 51363278 G A rs61736309 KLK3 Synonymous SNV T184T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.995 49521 chr19 38852453 38852453 C T rs3745954 CATSPERG Synonymous SNV Y642Y 0.043 0.068 0.041 18 50 26 0.046 12 1 0 1 0 14.42 49522 chr7 98257755 98257755 C T rs34517768 NPTX2 Synonymous SNV V370V 0.009 0.016 0.014 2 11 6 0.005 4 0 0 0 0 13.86 49523 chr19 38871622 38871622 C T rs11541756 PSMD8 Synonymous SNV I262I 0.067 0.057 0.048 22 79 22 0.056 14 5 0 0 1 16.66 49524 chr7 36327317 36327317 C T rs196594 EEPD1 Nonsynonymous SNV P416S 0.055 0.042 0.112 30 65 16 0.077 33 1 0 3 0 0.314 49525 chr7 131155616 131155616 C T rs148919939 MKLN1 Synonymous SNV A441A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.49 49526 chr19 38876352 38876352 G A rs56854837 GGN Nonsynonymous SNV A517V 0.046 0.073 0.041 18 54 28 0.046 12 1 0 1 0 10.01 49527 chr7 98552913 98552913 G A TRRAP Nonsynonymous SNV V1950M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.5 49528 chr19 38876464 38876464 C G rs11083455 GGN Nonsynonymous SNV A480P 0.032 0.029 0.048 9 38 11 0.023 14 7 0 3 0 4.594 49529 chr7 36445855 36445855 A C rs61737563 ANLN Synonymous SNV R185R 0.111 0.12 0.065 30 130 46 0.077 19 8 4 1 0 Benign 0.61 49530 chr19 51480840 51480840 C G rs1654528 KLK7 Synonymous SNV V166V 0.124 0.089 0.085 48 145 34 0.123 25 8 1 1 1 13.52 49531 chr19 38893856 38893856 G C rs3745957 FAM98C Synonymous SNV L21L 0.044 0.078 0.031 18 52 30 0.046 9 1 2 1 0 12.49 49532 chr7 155534687 155534687 C T rs139706552 RBM33 Nonsynonymous SNV P742S 0.016 0.005 0 2 19 2 0.005 0 0 0 0 0 10.24 49533 chr7 99032593 99032593 G T rs11555142 ATP5MF-PTCD1, PTCD1 Synonymous SNV T91T 0.073 0.083 0.109 30 86 32 0.077 32 4 2 4 0 1.185 49534 chr19 38910787 38910787 C T rs41465445 RASGRP4 Nonsynonymous SNV G165R 0.042 0.044 0.037 14 49 17 0.036 11 1 0 0 0 13.26 49535 chr19 51503285 51503285 C T rs16988799 KLK8 Nonsynonymous SNV V33I 0.058 0.076 0.027 14 68 29 0.036 8 1 1 0 0 9.181 49536 chr7 37272769 37272769 C T rs35387639 ELMO1 Synonymous SNV T160T 0.051 0.026 0.065 10 60 10 0.026 19 1 0 0 0 17.65 49537 chr7 131859678 131859678 G T rs13232207 PLXNA4 Synonymous SNV A1292A 0.02 0.01 0.014 6 23 4 0.015 4 1 0 0 0 10.36 49538 chr19 38943515 38943515 C T RYR1 Nonsynonymous SNV A434V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.8 49539 chr7 99250365 99250365 T C rs149888520 CYP3A5 Nonsynonymous SNV Y355C 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 26.4 49540 chr7 11871447 11871447 C T rs201614495 THSD7A Synonymous SNV P42P 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 14.92 49541 chr7 99473801 99473801 A G rs73403577 OR2AE1 Nonsynonymous SNV S286P 0.007 0.013 0.003 1 8 5 0.003 1 0 0 0 0 0.008 49542 chr7 99474007 99474007 T C rs60737583 OR2AE1 Nonsynonymous SNV Y217C 0.007 0.013 0.003 1 8 5 0.003 1 0 0 0 0 23.6 49543 chr11 64988541 64988541 C G rs61746998 SLC22A20P 0 0 0.068 0 0 0 0 20 0 0 1 0 11.01 49544 chr19 51527970 51527970 C T rs117268623 KLK11 Nonsynonymous SNV E41K 0.039 0.049 0.01 7 46 19 0.018 3 0 1 0 0 15.24 49545 chr19 38983180 38983180 G T rs35364374 RYR1 Nonsynonymous SNV G2060C 0.093 0.091 0.099 36 109 35 0.092 29 1 2 0 2 Benign 21.2 49546 chr7 99474143 99474143 G A rs114518763 OR2AE1 Nonsynonymous SNV R172W 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 18.21 49547 chr11 65003962 65003962 C T rs61743983 SLC22A20P 0 0 0.071 0 0 0 0 21 0 0 1 0 11.97 49548 chr7 99474158 99474158 G T rs115450325 OR2AE1 Nonsynonymous SNV P167T 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 24.3 49549 chr11 65003983 65003983 G C rs61742143 SLC22A20P 0 0 0.071 0 0 0 0 21 0 0 1 0 14.72 49550 chr7 38431436 38431436 C T rs1058656 AMPH Synonymous SNV T555T 0.202 0.203 0.122 76 237 78 0.195 36 21 8 4 6 13.98 49551 chr7 38431481 38431481 C A rs1058655 AMPH Synonymous SNV P540P 0.181 0.19 0.112 70 212 73 0.179 33 19 7 4 6 12.7 49552 chr7 37053134 37053134 G A rs116819643 ELMO1-AS1 0.014 0.005 0.014 9 16 2 0.023 4 1 0 0 0 3.56 49553 chr7 26678931 26678931 C T rs75706143 LINC02860 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 3.989 49554 chr7 99669802 99669802 A G rs11550034 ZNF3 Nonsynonymous SNV I109T 0.083 0.099 0.078 32 97 38 0.082 23 5 4 1 2 13.31 49555 chr7 99691945 99691945 G A rs28665367 MCM7 Nonsynonymous SNV R391C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 49556 chr19 39421129 39421129 G A rs34050897 SARS2 Nonsynonymous SNV S83L 0.015 0.013 0.014 7 18 5 0.018 4 0 0 0 0 Conflicting interpretations of pathogenicity 15.25 49557 chr7 42187909 42187909 G A GLI3 Nonsynonymous SNV P95S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.92 49558 chr19 39439286 39439286 C G rs199622732 FBXO17 Nonsynonymous SNV G128R 0.013 0.008 0.003 8 15 3 0.021 1 0 0 0 0 33 49559 chr7 27170159 27170159 C T rs6962314 HOXA4 Nonsynonymous SNV G65D 0.042 0.023 0.078 22 49 9 0.056 23 0 0 1 0 23.8 49560 chr7 138946363 138946363 C T rs140343844 UBN2 Nonsynonymous SNV S424L 0.02 0.023 0.024 14 24 9 0.036 7 0 0 0 0 24.9 49561 chr19 51856483 51856483 G A rs139519507 ETFB Nonsynonymous SNV P184L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.19 49562 chr7 27204732 27204732 C A rs35355140 HOXA9 Synonymous SNV T115T 0.07 0.042 0.051 23 82 16 0.059 15 4 0 1 0 16.81 49563 chr19 51871165 51871165 G C rs536390977 CLDND2 Synonymous SNV T95T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.793 49564 chr7 158679717 158679717 C T rs139730326 WDR60 Nonsynonymous SNV A123V 0.031 0.047 0.031 11 36 18 0.028 9 0 0 0 0 Benign 10.94 49565 chr7 40027484 40027484 A G rs3735135 CDK13 Nonsynonymous SNV T500A 0.086 0.078 0.065 38 101 30 0.097 19 8 2 0 1 8.57 49566 chr8 101206459 101206459 - GAC rs56246127 SPAG1 K353_S354insD 0.22 0.227 0.204 94 258 87 0.241 60 30 11 7 11 49567 chr7 139757712 139757712 C A rs61729681 PARP12 Nonsynonymous SNV W150L 0.034 0.036 0.031 15 40 14 0.038 9 0 0 0 1 13.39 49568 chr7 40127767 40127767 G A rs2302341 CDK13 Synonymous SNV K1024K 0.088 0.081 0.065 38 103 31 0.097 19 8 2 0 1 12.73 49569 chr19 40420083 40420083 C T rs35922811 FCGBP Nonsynonymous SNV V971M 0.024 0.026 0.024 16 28 10 0.041 7 1 0 0 0 23 49570 chr8 101960857 101960857 C T rs41473144 YWHAZ Synonymous SNV E87E 0.038 0.047 0.058 17 45 18 0.044 17 1 0 1 0 12.43 49571 chr19 51960940 51960940 A G rs10409962 SIGLEC8 Nonsynonymous SNV S170P 0.074 0.076 0.075 38 87 29 0.097 22 2 1 0 1 0.003 49572 chr8 10285810 10285810 T C rs3750314 MSRA Synonymous SNV G192G 0.06 0.076 0.058 23 70 29 0.059 17 0 1 0 1 0.323 49573 chr7 123516973 123516973 A G rs143985361 HYAL4 Nonsynonymous SNV S404G 0.013 0.01 0.014 4 15 4 0.01 4 0 0 0 0 16.49 49574 chr11 65404018 65404018 G A rs77200859 PCNX3 Nonsynonymous SNV R1917Q 0.025 0.016 0.034 7 29 6 0.018 10 0 0 0 0 22.6 49575 chr8 103573026 103573026 C A rs150771034 ODF1 Nonsynonymous SNV P223T 0.014 0.023 0.01 10 17 9 0.026 3 0 0 0 0 24.3 49576 chr19 40903528 40903528 G A rs118071705 PRX Nonsynonymous SNV A244V 0.012 0.008 0.024 7 14 3 0.018 7 0 0 0 0 Benign/Likely benign 13.11 49577 chr19 40913825 40913825 G C PRX Nonsynonymous SNV S5R 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 Uncertain significance 18.52 49578 chr7 19744417 19744417 T C rs11543308 TWISTNB Synonymous SNV P127P 0.033 0.036 0.027 12 39 14 0.031 8 1 0 0 1 3.554 49579 chr7 12396897 12396897 C T rs1866650 VWDE Synonymous SNV T1058T 0.129 0.104 0.133 51 151 40 0.131 39 9 1 2 7 12.54 49580 chr7 1976415 1976415 C T rs1801500 MAD1L1 Nonsynonymous SNV R28H 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 49581 chr7 29924072 29924072 A G rs3750092 WIPF3 Nonsynonymous SNV E321G 0.055 0.042 0.017 17 64 16 0.044 5 2 0 0 0 11.7 49582 chr11 65546763 65546763 G A rs201041158 AP5B1 Nonsynonymous SNV L401F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 26.1 49583 chr7 44797545 44797545 G A rs117856671 ZMIZ2 Synonymous SNV G217G 0.05 0.031 0.054 19 59 12 0.049 16 1 0 1 0 2.999 49584 chr7 20199427 20199427 - AA MACC1 Frameshift insertion R186Lfs*11 0.003 0 0 0 3 0 0 0 0 0 0 0 49585 chr11 65547075 65547075 G A rs367659364 AP5B1 Synonymous SNV L297L 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 13.2 49586 chr8 10465097 10465097 C T rs4354268 RP1L1 Nonsynonymous SNV E2171K 0.419 0.424 0.388 174 492 163 0.446 114 111 37 23 40 Benign 13.37 49587 chr7 139572123 139572123 G A rs6138 TBXAS1 Nonsynonymous SNV R60H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 14.28 49588 chr7 45121380 45121380 G A NACAD Nonsynonymous SNV P1387S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 23.3 49589 chr7 139793879 139793879 C G rs769521795 KDM7A Nonsynonymous SNV D812H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.5 49590 chr7 141629982 141629982 G T rs118162062 CLEC5A Synonymous SNV T140T 0.043 0.047 0.044 18 51 18 0.046 13 1 1 0 1 9.594 49591 chr7 127223107 127223107 T C rs55695269 GCC1 Nonsynonymous SNV N430S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.727 49592 chr8 10466482 10466482 G A rs13267180 RP1L1 Nonsynonymous SNV A1709V 0.422 0.427 0.388 175 496 164 0.449 114 114 37 23 41 Benign 10.43 49593 chr19 41858876 41858876 C G rs1800471 TGFB1 Nonsynonymous SNV R25P 0.096 0.086 0.071 19 113 33 0.049 21 2 2 2 0 Benign 26.3 49594 chr7 21609691 21609691 C T rs72655982 DNAH11 Nonsynonymous SNV T400I 0.032 0.029 0.051 12 38 11 0.031 15 1 0 0 0 Benign/Likely benign 0.002 49595 chr7 21621631 21621631 G A rs72655988 DNAH11 Nonsynonymous SNV A568T 0.032 0.029 0.051 12 38 11 0.031 15 1 0 0 0 Benign/Likely benign 23 49596 chr7 30795466 30795466 G C rs61741736 INMT X263S 0.015 0.023 0.024 4 18 9 0.01 7 0 0 1 0 Benign 0.175 49597 chr7 43978084 43978084 G A rs61751727 UBE2D4 Nonsynonymous SNV G27S 0.028 0.023 0.024 15 33 9 0.038 7 0 0 0 0 23.4 49598 chr7 31011677 31011677 C T rs740336 GHRHR Synonymous SNV H188H 0.033 0.044 0.041 8 39 17 0.021 12 0 0 0 0 Benign 8.499 49599 chr8 10467589 10467589 - CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC RP1L1 E1339_E1340insGTKVIEGLQEERVQLE 0.106 0.078 0.058 37 124 30 0.095 17 17 4 4 4 49600 chr7 45125665 45125665 G A rs34135761 NACAD Synonymous SNV D38D 0.071 0.068 0.048 18 83 26 0.046 14 5 2 0 1 0.027 49601 chr7 45140914 45140914 C T rs1042984 TBRG4 Synonymous SNV L469L 0.071 0.068 0.061 19 83 26 0.049 18 5 2 0 1 11.94 49602 chr7 21639572 21639572 A G rs17144747 DNAH11 Synonymous SNV Q945Q 0.035 0.036 0.058 12 41 14 0.031 17 0 0 0 0 Benign/Likely benign 0.289 49603 chr7 44104754 44104754 C T rs145985559 PGAM2 Synonymous SNV P125P 0.017 0.01 0.017 4 20 4 0.01 5 0 0 0 0 Benign/Likely benign 9.853 49604 chr19 52249672 52249672 A G rs1042229 FPR1 Synonymous SNV N192N 0.101 0.104 0.054 47 119 40 0.121 16 5 0 1 1 0.004 49605 chr19 52249680 52249680 T A rs5030880 FPR1 Nonsynonymous SNV R190W 0.102 0.109 0.102 47 120 42 0.121 30 5 2 1 1 Benign 21 49606 chr7 45932669 45932669 A G rs4619 IGFBP1 Nonsynonymous SNV I253M 0.302 0.281 0.279 114 355 108 0.292 82 52 14 11 13 0.006 49607 chr19 52376040 52376040 G A rs10407707 ZNF577 Synonymous SNV S401S 0.024 0.034 0.048 4 28 13 0.01 14 0 0 1 0 4.874 49608 chr8 10480679 10480679 C T rs80059299 RP1L1 Synonymous SNV P11P 0.05 0.044 0.02 20 59 17 0.051 6 1 0 0 0 Benign 15.33 49609 chr19 52376119 52376119 G A rs10407911 ZNF577 Nonsynonymous SNV T375I 0.025 0.034 0.048 4 29 13 0.01 14 0 0 1 0 4.84 49610 chr8 105263928 105263928 C T rs61753732 RIMS2 Synonymous SNV I246I 0.022 0.021 0.027 5 26 8 0.013 8 0 0 0 0 12.27 49611 chr19 52376126 52376126 C T rs10407547 ZNF577 Nonsynonymous SNV E373K 0.025 0.034 0.048 4 29 13 0.01 14 0 0 1 0 8.988 49612 chr7 21775369 21775369 G A rs68023059 DNAH11 Nonsynonymous SNV V2518I 0.024 0.013 0.031 11 28 5 0.028 9 0 0 0 0 Benign 13.13 49613 chr7 142562051 142562051 - CCTCCT rs143667567 EPHB6 S176_A177insSS 0.075 0.07 0.075 20 88 27 0.051 22 5 1 1 1 49614 chr7 142569596 142569596 A G rs4987682 TRPV6 Nonsynonymous SNV M721T 0.074 0.07 0.092 20 87 27 0.051 27 5 1 1 1 0.002 49615 chr19 52376172 52376172 T A rs9807853 ZNF577 Nonsynonymous SNV R357S 0.024 0.034 0.048 4 28 13 0.01 14 0 0 1 0 0.003 49616 chr7 142570142 142570142 T C rs4987679 TRPV6 Synonymous SNV G666G 0.074 0.07 0.092 20 87 27 0.051 27 5 1 1 1 5.005 49617 chr19 52376207 52376207 G A rs9807842 ZNF577 Nonsynonymous SNV R346C 0.025 0.034 0.048 4 29 13 0.01 14 0 0 1 0 24.9 49618 chr19 52376226 52376226 C T rs9807840 ZNF577 Synonymous SNV S339S 0.025 0.034 0.048 4 29 13 0.01 14 0 0 1 0 13.68 49619 chr19 52376434 52376434 T C rs34295271 ZNF577 Nonsynonymous SNV Y270C 0.023 0.029 0.037 4 27 11 0.01 11 0 0 1 0 12.95 49620 chr8 107782335 107782335 G A rs11996457 ABRA Synonymous SNV S28S 0.25 0.232 0.252 111 294 89 0.285 74 38 11 9 14 7.458 49621 chr8 108334162 108334162 G T rs141029929 ANGPT1 Nonsynonymous SNV T57K 0.028 0.013 0.031 10 33 5 0.026 9 0 0 0 0 24.1 49622 chr11 65810612 65810612 G T rs35285455 GAL3ST3 Nonsynonymous SNV A221D 0.017 0.016 0.017 5 20 6 0.013 5 0 0 0 0 11.44 49623 chr19 52376448 52376448 A G rs9807843 ZNF577 Synonymous SNV T265T 0.025 0.034 0.048 4 29 13 0.01 14 0 0 1 0 0.072 49624 chr7 142749919 142749919 G A rs28563993 OR6V1 Nonsynonymous SNV R161Q 0.107 0.081 0.078 29 126 31 0.074 23 11 0 2 2 15.57 49625 chr8 110301998 110301998 T C rs2980618 NUDCD1 Nonsynonymous SNV I240V 0.286 0.299 0.289 108 336 115 0.277 85 46 16 12 12 10.85 49626 chr19 52393984 52393984 C T rs1433083 ZNF649 Nonsynonymous SNV A469T 0.016 0.005 0.02 1 19 2 0.003 6 0 0 0 0 7.115 49627 chr7 33674811 33674811 C T rs76100917 BBS9 Synonymous SNV I848I 0.026 0.013 0 5 30 5 0.013 0 0 0 0 0 15.24 49628 chr7 34091570 34091570 T G rs117988035 BMPER Synonymous SNV A258A 0.016 0.016 0.024 9 19 6 0.023 7 0 0 0 0 Benign 0.002 49629 chr7 142561747 142561747 C T rs56087487 EPHB6 Synonymous SNV D63D 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 14.02 49630 chr7 142637604 142637604 T C rs111853478 LLCFC1 Nonsynonymous SNV M125T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.45 49631 chr19 42879956 42879956 A G rs139192223 MEGF8 Nonsynonymous SNV T2456A 0.019 0.021 0.017 12 22 8 0.031 5 0 0 0 0 Uncertain significance 0.042 49632 chr19 52568396 52568396 C T rs113443812 ZNF841 Synonymous SNV P797P 0.011 0.034 0.014 2 13 13 0.005 4 0 0 0 0 11.66 49633 chr7 23561424 23561424 A G rs373107866 TRA2A Synonymous SNV T24T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.996 49634 chr11 66333807 66333807 G A rs143313688 CTSF Nonsynonymous SNV R226C 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 49635 chr19 44031324 44031324 C T rs3810381 ETHE1 Synonymous SNV A2A 0.129 0.122 0.139 56 151 47 0.144 41 10 2 2 4 Benign 15.5 49636 chr11 6644427 6644427 C G rs35599968 DCHS1 Nonsynonymous SNV R2827P 0.049 0.026 0.031 11 58 10 0.028 9 1 0 1 0 19.79 49637 chr11 66457681 66457681 C T rs35532855 SPTBN2 Nonsynonymous SNV R1880H 0.044 0.055 0.017 18 52 21 0.046 5 3 1 0 0 Benign/Likely benign 24.1 49638 chr8 11301601 11301601 G C rs3021512 FAM167A Nonsynonymous SNV T107S 0.188 0.188 0.167 72 221 72 0.185 49 19 7 5 7 0.002 49639 chr7 23871898 23871898 A G rs35517396 STK31 Synonymous SNV L968L 0.067 0.091 0.075 25 79 35 0.064 22 3 1 0 1 0.438 49640 chr7 36459076 36459076 G A rs17213431 ANLN Synonymous SNV V582V 0.09 0.083 0.139 42 106 32 0.108 41 6 3 6 1 11.08 49641 chr7 37890267 37890267 G A rs2722372 NME8 Nonsynonymous SNV R43K 0.22 0.229 0.259 82 258 88 0.21 76 35 12 9 9 Benign 8.169 49642 chr7 4827903 4827903 A C rs186003800 AP5Z1 Nonsynonymous SNV K369Q 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Uncertain significance 1.763 49643 chr7 37890316 37890316 C T rs2598044 NME8 Synonymous SNV D59D 0.22 0.229 0.255 82 258 88 0.21 75 35 12 9 9 Benign 10.99 49644 chr11 66481633 66481633 G A rs34775878 SPTBN2 Synonymous SNV N195N 0.179 0.19 0.19 70 210 73 0.179 56 15 7 8 5 Benign/Likely benign 13.97 49645 chr8 11640784 11640784 A G rs8191642 NEIL2 Synonymous SNV P127P 0.233 0.247 0.235 88 273 95 0.226 69 33 10 6 12 0.005 49646 chr11 6653665 6653665 T G rs756382185 DCHS1 Synonymous SNV A1026A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.474 49647 chr7 37896896 37896896 G A rs3213976 NME8 Synonymous SNV V73V 0.125 0.125 0.122 35 147 48 0.09 36 12 4 3 3 Benign 11.12 49648 chr11 66610418 66610418 G A rs200048907 C11orf80 Nonsynonymous SNV E450K 0.014 0.013 0.003 2 16 5 0.005 1 1 0 0 0 Benign 21.6 49649 chr7 48311563 48311563 T G rs17712293 ABCA13 Nonsynonymous SNV I767S 0.139 0.083 0.112 50 163 32 0.128 33 11 0 1 5 16.38 49650 chr19 52937339 52937339 G A rs17780173 ZNF534 Synonymous SNV E49E 0.117 0.112 0.133 64 137 43 0.164 39 9 3 1 4 2.627 49651 chr7 48314279 48314279 G A rs6955212 ABCA13 Synonymous SNV K1672K 0.139 0.083 0.112 50 163 32 0.128 33 11 0 1 5 3.445 49652 chr7 131241035 131241035 - GGCGAC PODXL S31_Q32insPS 0.06 0.057 0 33 70 22 0.085 0 0 0 0 0 49653 chr7 48315360 48315360 A G rs17661364 ABCA13 Nonsynonymous SNV N2033D 0.014 0.018 0.003 4 17 7 0.01 1 0 0 0 0 12.9 49654 chr7 38431415 38431415 C T rs55969455 AMPH Synonymous SNV G562G 0.022 0.018 0.027 8 26 7 0.021 8 0 0 0 0 9.66 49655 chr7 48494641 48494641 C G rs769282773 ABCA13 Synonymous SNV S4191S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.685 49656 chr8 120859235 120859235 A C rs61753750 DSCC1 Nonsynonymous SNV I191S 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 27.3 49657 chr7 148702362 148702362 G A rs35207074 PDIA4 Synonymous SNV L466L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.38 49658 chr7 42079765 42079765 G A rs35961850 GLI3 Synonymous SNV S300S 0.093 0.065 0.061 16 109 25 0.041 18 6 1 0 0 Benign 9.951 49659 chr7 4821300 4821300 C G rs11549839 AP5Z1 Nonsynonymous SNV S94C 0.031 0.042 0.02 5 36 16 0.013 6 0 0 0 1 Benign/Likely benign 17.19 49660 chr7 2649777 2649777 C T rs1061566 IQCE Nonsynonymous SNV T625M 0.086 0.083 0.088 32 101 32 0.082 26 2 1 1 1 4.229 49661 chr7 4950853 4950853 G C rs77179989 MMD2 Synonymous SNV P130P 0.019 0.021 0.014 6 22 8 0.015 4 0 0 0 0 7.538 49662 chr7 4821352 4821352 G C rs11549840 AP5Z1 Nonsynonymous SNV Q111H 0.031 0.042 0.02 5 36 16 0.013 6 0 0 0 1 Benign/Likely benign 9.137 49663 chr7 42088232 42088232 G A rs3898405 GLI3 Synonymous SNV H179H 0.093 0.065 0.061 16 109 25 0.041 18 6 1 0 0 Benign 9.875 49664 chr7 149129422 149129422 G A rs71532779 ZNF777 Synonymous SNV H647H 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 2.183 49665 chr7 148768570 148768570 T C rs34255334 ZNF786 Nonsynonymous SNV K432E 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 11.44 49666 chr7 4825945 4825945 G A rs117666541 AP5Z1 Synonymous SNV E243E 0.031 0.042 0.024 5 36 16 0.013 7 0 0 0 1 Benign/Likely benign 3.847 49667 chr8 123964011 123964011 G A rs61752912 ZHX2 Synonymous SNV T87T 0.043 0.049 0.058 20 50 19 0.051 17 0 0 1 0 4.081 49668 chr7 4827859 4827859 G A rs77890266 AP5Z1 Nonsynonymous SNV R354Q 0.032 0.042 0.024 5 37 16 0.013 7 0 0 0 1 Benign 21.9 49669 chr8 123965193 123965193 C T rs111726812 ZHX2 Synonymous SNV S481S 0.043 0.049 0.061 21 50 19 0.054 18 0 0 1 0 10.22 49670 chr8 123966085 123966085 G A rs3802264 ZHX2 Nonsynonymous SNV G779S 0.045 0.036 0.034 8 53 14 0.021 10 0 0 0 0 23.3 49671 chr7 148801490 148801490 G T rs61737625 ZNF425 Synonymous SNV V491V 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 0.819 49672 chr7 42974714 42974714 G A rs146026971 MRPL32 Synonymous SNV P97P 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 11.82 49673 chr7 48287840 48287840 G A rs2361519 ABCA13 Nonsynonymous SNV R555H 0.128 0.065 0.112 46 150 25 0.118 33 11 0 1 3 0.016 49674 chr7 148802051 148802051 G A rs61742848 ZNF425 Synonymous SNV C304C 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 6.096 49675 chr7 148875756 148875756 C T rs61732818 ZNF398 Synonymous SNV I264I 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 11.48 49676 chr7 4830971 4830971 G T rs77393809 AP5Z1 Synonymous SNV T637T 0.031 0.042 0.024 5 36 16 0.013 7 0 0 0 1 Benign/Likely benign 8.106 49677 chr7 148876129 148876129 T A rs61732817 ZNF398 Nonsynonymous SNV S389T 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 0.204 49678 chr8 124154697 124154697 G T rs10101626 TBC1D31 0.222 0.19 0.207 90 261 73 0.231 61 30 10 7 10 23.1 49679 chr7 148920947 148920947 - CAGCCC rs769712882 ZNF282 P416_P417insQP 0.002 0 0 0 2 0 0 0 0 0 0 0 49680 chr19 53303745 53303745 T C rs12462522 ZNF28 Synonymous SNV Q398Q 0.038 0.036 0.068 19 45 14 0.049 20 1 0 1 1 0.047 49681 chr7 149473472 149473472 G A rs77871926 SSPO 0.009 0.005 0.01 6 10 2 0.015 3 0 0 0 0 5.772 49682 chr7 48313949 48313949 C T rs6583483 ABCA13 Synonymous SNV Y1562Y 0.124 0.065 0.105 46 145 25 0.118 31 10 0 1 3 0.399 49683 chr8 124214574 124214574 C T rs13271849 FAM83A-AS1 0.216 0.172 0 84 254 66 0.215 0 23 4 0 8 2.239 49684 chr19 44571264 44571264 T G rs145131242 ZNF223 Nonsynonymous SNV F428C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 22.7 49685 chr8 124253562 124253562 C T rs1053106977 C8orf76 Nonsynonymous SNV G9S 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 32 49686 chr7 149482094 149482094 C T rs78769093 SSPO 0.007 0.005 0.01 5 8 2 0.013 3 0 0 0 0 7.431 49687 chr7 51094269 51094269 G A rs61737954 COBL Nonsynonymous SNV H1160Y 0.066 0.057 0.054 21 77 22 0.054 16 0 1 1 0 24.8 49688 chr7 149485716 149485716 G A rs740108 SSPO 0.009 0.005 0.01 8 11 2 0.021 3 0 0 0 0 4.047 49689 chr8 124357253 124357253 G A rs16898247 ATAD2 Synonymous SNV H863H 0.02 0.034 0.027 12 23 13 0.031 8 1 0 1 1 9.629 49690 chr8 124658210 124658210 C T rs16898671 KLHL38 Synonymous SNV A505A 0.106 0.083 0.126 51 124 32 0.131 37 7 3 1 1 15.41 49691 chr7 48349647 48349647 C T rs3931814 ABCA13 Nonsynonymous SNV A3142V 0.136 0.143 0.129 46 160 55 0.118 38 8 5 3 3 0.237 49692 chr7 149500777 149500777 G A rs149826000 SSPO 0.003 0 0 0 4 0 0 0 0 0 0 0 0.405 49693 chr7 4841313 4841313 A G rs6966329 RADIL Nonsynonymous SNV L938P 0.194 0.224 0.133 69 228 86 0.177 39 25 14 8 7 0.057 49694 chr7 44118394 44118394 C G rs28382644 POLM Nonsynonymous SNV G220A 0.011 0.016 0.01 4 13 6 0.01 3 0 0 0 0 25.4 49695 chr7 2951824 2951824 A G rs2301921 CARD11 Synonymous SNV I1042I 0.037 0.021 0.037 16 44 8 0.041 11 0 0 1 0 0.157 49696 chr7 4843213 4843213 - CTGCCAGGG rs533343819 RADIL G820_R821insSPG 0.035 0.049 0.027 5 41 19 0.013 8 0 1 0 1 49697 chr8 124710664 124710664 C T rs6995099 ANXA13 Nonsynonymous SNV V108I 0.07 0.063 0.054 26 82 24 0.067 16 2 2 0 2 12.71 49698 chr7 4843307 4843307 T C rs187128776 RADIL Nonsynonymous SNV N790S 0.029 0.042 0.024 5 34 16 0.013 7 0 0 0 1 0.047 49699 chr7 149512800 149512800 T C rs78758649 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 6.282 49700 chr7 149512845 149512845 - AGGTGGTC rs146626309 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 49701 chr7 2959172 2959172 G A rs3735126 CARD11 Synonymous SNV L782L 0.05 0.039 0.044 17 59 15 0.044 13 1 0 0 1 10.39 49702 chr7 4845312 4845312 T G rs2306919 RADIL Synonymous SNV A725A 0.246 0.263 0.231 89 289 101 0.228 68 31 16 12 8 4.644 49703 chr7 44157579 44157579 G C rs546429678 POLD2 Nonsynonymous SNV P102R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23 49704 chr7 2962293 2962293 C G rs3735131 CARD11 Synonymous SNV T748T 0.049 0.039 0.041 18 58 15 0.046 12 1 0 0 1 15.16 49705 chr7 296671 296671 C T rs141959001 FAM20C Synonymous SNV Y435Y 0.008 0.013 0.017 2 9 5 0.005 5 0 0 0 0 11.41 49706 chr7 137263067 137263067 T A rs61751966 DGKI Synonymous SNV A549A 0.015 0.013 0.003 1 18 5 0.003 1 0 0 0 0 8.745 49707 chr11 68831364 68831364 G A rs72928978 TPCN2 Nonsynonymous SNV V219I 0.088 0.078 0.116 27 103 30 0.069 34 7 2 0 1 23.7 49708 chr19 44661136 44661136 A C ZNF234 Nonsynonymous SNV K323Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.8 49709 chr8 125082790 125082790 C T rs200078281 FER1L6 Nonsynonymous SNV T1306M 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 8.864 49710 chr7 30701812 30701812 C T rs8192498 CRHR2 Nonsynonymous SNV V239I 0.024 0.036 0.048 11 28 14 0.028 14 1 0 0 0 6.11 49711 chr7 30702347 30702347 C G rs34625936 CRHR2 Nonsynonymous SNV E219D 0.023 0.029 0.041 10 27 11 0.026 12 1 0 0 0 11.11 49712 chr7 149576478 149576478 C T rs77523817 ATP6V0E2 Synonymous SNV S118S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.44 49713 chr19 53418471 53418471 A G rs4803021 ZNF888 Synonymous SNV N40N 0.064 0.052 0.007 13 75 20 0.033 2 6 1 0 0 1.156 49714 chr7 552046 552046 A G rs1129401 PDGFA Synonymous SNV H69H 0.196 0.169 0.241 62 230 65 0.159 71 23 7 9 4 0.136 49715 chr7 5104275 5104275 G A rs12674330 RBAK Synonymous SNV T396T 0.124 0.133 0.173 53 145 51 0.136 51 9 3 4 4 8.877 49716 chr11 69625385 69625385 C T rs35420992 FGF3 Synonymous SNV T136T 0.061 0.06 0.061 16 72 23 0.041 18 2 2 1 1 Benign 11.8 49717 chr7 5104359 5104359 G A rs12668616 RBAK Synonymous SNV T424T 0.119 0.13 0.173 51 140 50 0.131 51 8 2 4 3 8.243 49718 chr11 69633633 69633633 C A rs41538178 FGF3 Synonymous SNV A23A 0.044 0.039 0.041 14 52 15 0.036 12 2 2 1 1 Benign 11.71 49719 chr7 5105208 5105208 C T rs36026500 RBAK Synonymous SNV N707N 0.123 0.133 0.173 53 144 51 0.136 51 9 3 4 4 7.87 49720 chr8 12947902 12947902 C T DLC1 Synonymous SNV G800G 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 4.886 49721 chr7 30961790 30961790 G A rs28362731 AQP1 Nonsynonymous SNV G165D 0.049 0.068 0.051 28 58 26 0.072 15 2 1 0 1 23 49722 chr7 45123805 45123805 C T rs762864204 NACAD Synonymous SNV K658K 0.035 0.026 0.061 5 41 10 0.013 18 2 2 4 0 5.917 49723 chr7 150069396 150069407 CCGCCAGGGGCC - rs3832490 REPIN1 G358_P361del 0.083 0.07 0.109 35 98 27 0.09 32 5 0 3 4 49724 chr7 45123818 45123937 GAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT - NACAD I625_T664del 0.032 0.018 0.051 4 37 7 0.01 15 0 0 0 0 49725 chr19 45150763 45150763 G A rs10421291 PVR Synonymous SNV E116E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 6.562 49726 chr7 45217015 45217015 T C rs2074654 RAMP3 Nonsynonymous SNV W56R 0.1 0.107 0.119 32 117 41 0.082 35 5 5 2 1 19.87 49727 chr19 45161070 45161070 G A rs35365841 PVR Nonsynonymous SNV A295T 0.011 0.003 0 2 13 1 0.005 0 0 0 0 0 0.47 49728 chr7 138738204 138738204 G A rs11977775 ZC3HAV1 Synonymous SNV Y936Y 0.037 0.042 0.054 27 44 16 0.069 16 1 0 2 1 7.679 49729 chr11 70265880 70265880 C T rs35414621 CTTN Synonymous SNV Y199Y 0.014 0.013 0.02 3 17 5 0.008 6 0 0 0 0 8.813 49730 chr7 45932600 45932600 C T rs4988515 IGFBP1 Synonymous SNV C230C 0.026 0.016 0.01 5 30 6 0.013 3 0 0 0 0 11.25 49731 chr7 138764481 138764481 G C rs138061005 ZC3HAV1 Synonymous SNV G402G 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.414 49732 chr11 70332113 70332113 C T rs782672433 SHANK2 Nonsynonymous SNV A841T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 49733 chr11 70332118 70332118 C T rs782253326 SHANK2 Nonsynonymous SNV R839Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21 49734 chr7 47343083 47343083 C T rs3807589 TNS3 Synonymous SNV E974E 0.064 0.055 0.058 19 75 21 0.049 17 4 0 1 0 7.777 49735 chr19 45315539 45315539 G A rs3745159 BCAM Synonymous SNV G108G 0.005 0 0.01 7 6 0 0.018 3 0 0 0 0 3.729 49736 chr7 6194213 6194213 G A rs143294703 USP42 Nonsynonymous SNV E1010K 0.021 0.018 0.01 11 25 7 0.028 3 0 0 0 1 22.2 49737 chr7 5410916 5410916 G C rs10215902 TNRC18 Synonymous SNV A1103A 0.098 0.081 0.099 29 115 31 0.074 29 3 0 0 1 1.808 49738 chr7 5417609 5417609 G A rs116929984 TNRC18 Synonymous SNV H733H 0.018 0.034 0.003 14 21 13 0.036 1 1 0 0 1 5.751 49739 chr8 133899160 133899160 C G rs180222 TG Nonsynonymous SNV Q515E 0.043 0.031 0.037 23 50 12 0.059 11 1 1 0 0 Conflicting interpretations of pathogenicity 0.001 49740 chr7 33134883 33134883 T C rs150987618 RP9 Nonsynonymous SNV K210R 0.033 0.029 0.01 16 39 11 0.041 3 3 0 1 2 Benign 17.23 49741 chr7 55233089 55233089 C T rs17290169 EGFR Synonymous SNV A346A 0.103 0.086 0.085 37 121 33 0.095 25 7 1 0 2 Benign/Likely benign 14.7 49742 chr7 150554553 150554553 C T rs1049742 AOC1 Nonsynonymous SNV S332F 0.045 0.047 0.061 15 53 18 0.038 18 2 0 1 0 25.3 49743 chr11 71118639 71118639 G - rs55681125 FLJ42102 0 0 0.289 0 0 0 0 85 0 0 13 0 49744 chr11 71118789 71118789 G C rs1790362 FLJ42102 0 0 0.289 0 0 0 0 85 0 0 13 0 0.473 49745 chr11 71152447 71152447 C T rs11555217 DHCR7 Stop gain W151X 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Pathogenic 36 49746 chr19 45662295 45662295 G A rs75291769 NKPD1 Nonsynonymous SNV S52F 0.029 0.018 0.017 13 34 7 0.033 5 0 0 0 1 16.57 49747 chr7 6066461 6066461 T C rs2639 EIF2AK1 Synonymous SNV P553P 0.164 0.169 0.146 52 193 65 0.133 43 16 6 1 7 8.897 49748 chr19 54377508 54377508 G A rs747451838 MYADM Nonsynonymous SNV G242E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 49749 chr7 6185194 6185194 A G rs10225119 USP42 Synonymous SNV Q346Q 0.076 0.049 0.048 28 89 19 0.072 14 2 0 1 0 12.64 49750 chr7 6189717 6189717 G A rs61753118 USP42 Synonymous SNV T630T 0.051 0.044 0.024 20 60 17 0.051 7 1 0 0 0 11.12 49751 chr7 6189750 6189750 C T rs61750868 USP42 Synonymous SNV A641A 0.052 0.044 0.027 21 61 17 0.054 8 1 0 1 0 14.28 49752 chr19 54496458 54496458 C G rs750723015 CACNG6 Synonymous SNV P109P 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 16.35 49753 chr7 141490602 141490602 A C rs147311596 TAS2R5 Synonymous SNV T147T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 49754 chr7 150746363 150746363 C A ASIC3 Synonymous SNV R131R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.73 49755 chr8 134472035 134472035 T C rs149294559 ST3GAL1 Nonsynonymous SNV N332S 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 14.26 49756 chr7 6193464 6193464 T G rs61732616 USP42 Nonsynonymous SNV L760R 0.087 0.063 0.058 29 102 24 0.074 17 2 0 2 0 0.001 49757 chr7 141619005 141619005 A G rs200870729 OR9A4 Synonymous SNV T110T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.009 49758 chr8 135521970 135521970 G A rs11778717 ZFAT Synonymous SNV A1066A 0.192 0.242 0.15 91 225 93 0.233 44 24 11 3 11 13.92 49759 chr7 6194379 6194379 G C rs112550268 USP42 Nonsynonymous SNV R1065T 0.01 0.018 0.003 12 12 7 0.031 1 0 1 0 0 23.7 49760 chr8 135614326 135614326 G A rs142331855 ZFAT Nonsynonymous SNV R484W 0.011 0.005 0.014 6 13 2 0.015 4 0 0 0 0 Benign 18.67 49761 chr7 141843662 141843662 G A rs76786761 MGAM2 Nonsynonymous SNV E471K 0.023 0.026 0.044 5 27 10 0.013 13 0 1 0 0 7.085 49762 chr11 7324584 7324584 G A rs78477754 SYT9 Nonsynonymous SNV V154M 0.03 0.026 0.037 20 35 10 0.051 11 3 1 0 1 0.87 49763 chr11 73371842 73371842 C G rs147173613 PLEKHB1 Synonymous SNV P126P 0.004 0 0.007 5 5 0 0.013 2 0 0 0 0 9.4 49764 chr7 6732315 6732315 A C rs61227179 ZNF12 Nonsynonymous SNV D86E 0.047 0.039 0.044 25 55 15 0.064 13 1 0 0 0 0.044 49765 chr7 64389067 64389067 G A rs1830080 ZNF273 Nonsynonymous SNV G454E 0.048 0.036 0.078 13 56 14 0.033 23 1 0 0 1 25.4 49766 chr19 54721090 54721090 A G rs141841040 LILRB3 Nonsynonymous SNV S591P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.026 49767 chr7 72861617 72861634 TCTTCTTCCTCCTCCTCC - rs782576946 BAZ1B E1268_E1273del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 49768 chr7 4841318 4841318 G A rs6945581 RADIL Synonymous SNV N936N 0.112 0.133 0.085 45 131 51 0.115 25 10 7 5 2 6.536 49769 chr7 38431430 38431430 A G rs6949992 AMPH Synonymous SNV S557S 0.112 0.104 0.116 48 131 40 0.123 34 7 4 2 3 2.985 49770 chr7 38433726 38433726 T G rs35024632 AMPH Nonsynonymous SNV K454T 0.075 0.073 0.082 40 88 28 0.103 24 4 2 1 1 11.56 49771 chr7 48547511 48547511 C A rs78634768 ABCA13 Nonsynonymous SNV L4464M 0.015 0.008 0 6 18 3 0.015 0 0 0 0 0 Benign 24.6 49772 chr7 142569556 142569556 A G rs4987683 TRPV6 Synonymous SNV N734N 0.046 0.044 0.054 9 54 17 0.023 16 1 1 0 0 0.895 49773 chr19 47219450 47219450 A G rs56034494 PRKD2 Synonymous SNV L60L 0.036 0.049 0.061 22 42 19 0.056 18 0 0 1 1 9.002 49774 chr7 142572908 142572908 T C rs4987667 TRPV6 Nonsynonymous SNV M418V 0.073 0.07 0.092 20 86 27 0.051 27 5 1 1 1 0.001 49775 chr19 47259048 47259048 C G rs143793528 FKRP Nonsynonymous SNV A114G 0.026 0.021 0.014 5 30 8 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 6.593 49776 chr7 142573263 142573263 C T rs4987665 TRPV6 Synonymous SNV T400T 0.073 0.07 0.092 20 86 27 0.051 27 5 1 1 1 9.579 49777 chr8 142154291 142154291 G A rs307761 DENND3 Nonsynonymous SNV S223N 0.112 0.122 0.109 44 131 47 0.113 32 2 4 1 4 0.123 49778 chr7 142574913 142574913 A G rs4987657 TRPV6 Nonsynonymous SNV C197R 0.073 0.07 0.092 20 86 27 0.051 27 5 1 1 1 0.149 49779 chr7 15430352 15430352 T C rs1049254149 AGMO Nonsynonymous SNV K256E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.78 49780 chr8 142161032 142161032 A C rs441914 DENND3 Synonymous SNV R279R 0.118 0.13 0.109 45 139 50 0.115 32 2 4 1 4 0.144 49781 chr8 142161873 142161873 C T rs2304284 DENND3 Synonymous SNV F337F 0.111 0.125 0.099 43 130 48 0.11 29 2 3 0 4 14.99 49782 chr7 6449496 6449496 T C rs2303361 DAGLB Nonsynonymous SNV Q535R 0.152 0.159 0.139 49 179 61 0.126 41 15 6 3 1 0.003 49783 chr8 142161888 142161888 G A rs2304283 DENND3 Synonymous SNV T342T 0.112 0.128 0.088 44 132 49 0.113 26 2 3 0 4 15.07 49784 chr7 6456347 6456347 G T rs1055428 DAGLB Synonymous SNV G317G 0.147 0.154 0.139 47 172 59 0.121 41 13 6 3 1 3.007 49785 chr19 47546074 47546074 C T rs142107333 NPAS1 Stop gain R217X 0.005 0.01 0 7 6 4 0.018 0 0 0 0 0 17.7 49786 chr19 47575256 47575267 GGGTGCATGTCC - rs762005981 ZC3H4 P642_H645del 0.005 0.013 0 7 6 5 0.018 0 0 0 0 0 49787 chr7 50435777 50435777 T G rs12669559 IKZF1 Synonymous SNV P78P 0.399 0.445 0.378 172 469 171 0.441 111 89 35 25 38 11.47 49788 chr7 73944095 73944095 C T rs61744518 GTF2IRD1 Synonymous SNV P406P 0.032 0.034 0.041 14 37 13 0.036 12 0 0 0 1 16.53 49789 chr7 155150443 155150443 G A rs3923205 BLACE 0.04 0.036 0.034 20 47 14 0.051 10 3 1 0 3 5.377 49790 chr7 50595900 50595900 T C rs6263 DDC Nonsynonymous SNV M139V 0.014 0.01 0.007 4 16 4 0.01 2 0 0 0 0 Likely benign 12.61 49791 chr7 155150460 155150460 G T rs3923204 BLACE 0.04 0.036 0.034 20 47 14 0.051 10 3 1 0 3 0.285 49792 chr7 75583325 75583325 A G rs10262966 POR Synonymous SNV G5G 0.013 0.013 0.024 4 15 5 0.01 7 1 0 1 0 Benign/Likely benign 4.278 49793 chr19 55178188 55178188 A G rs144393412 LILRB4 Synonymous SNV E373E 0.009 0.008 0.003 8 11 3 0.021 1 0 0 0 0 0.007 49794 chr7 51094347 51094347 C T rs777875725 COBL Nonsynonymous SNV G1134R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.998 49795 chr7 71142219 71142219 C T rs61740246 GALNT17 Synonymous SNV D476D 0.181 0.164 0.129 67 213 63 0.172 38 20 6 5 10 16.39 49796 chr7 156589149 156589149 A G rs112583005 LMBR1 Synonymous SNV C26C 0.047 0.052 0.065 24 55 20 0.062 19 2 0 0 1 Benign 5.372 49797 chr7 156746890 156746890 C T rs61740447 NOM1 Synonymous SNV S403S 0.042 0.039 0.068 22 49 15 0.056 20 3 0 0 0 12.46 49798 chr7 157449061 157449061 G T rs140851646 PTPRN2 Synonymous SNV G690G 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 7.718 49799 chr7 51287469 51287469 C T rs753398532 COBL Nonsynonymous SNV G72R 0.003 0 0 0 4 0 0 0 0 0 0 0 33 49800 chr8 143746788 143746788 G C rs587615143 JRK Synonymous SNV L230L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 9.288 49801 chr7 43906513 43906513 A G rs670573 MRPS24 Nonsynonymous SNV W97R 0.079 0.091 0.078 25 93 35 0.064 23 6 0 0 1 3.663 49802 chr8 143808940 143808940 T C THEM6 Nonsynonymous SNV L59S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26.7 49803 chr7 76889354 76889354 G C rs17853516 CCDC146 Nonsynonymous SNV E263Q 0.055 0.047 0.017 22 64 18 0.056 5 1 0 0 2 2.58 49804 chr7 43982341 43982341 G A rs2074728 POLR2J4 0.056 0.052 0.037 18 66 20 0.046 11 4 0 0 0 4.739 49805 chr7 14378155 14378155 T C rs186133720 DGKB Nonsynonymous SNV K685E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 49806 chr7 73279659 73279659 G A rs73142829 TMEM270 Nonsynonymous SNV G137S 0.064 0.055 0.061 31 75 21 0.079 18 2 1 0 0 5.377 49807 chr7 158664075 158664077 GAA - rs145233696 WDR60 K59del 0.241 0.227 0.173 107 283 87 0.274 51 34 12 4 12 49808 chr7 17879553 17879553 G A rs12720473 SNX13 Synonymous SNV T412T 0.033 0.036 0.034 16 39 14 0.041 10 0 0 0 0 13.55 49809 chr19 48784844 48784844 G C rs36080665 ZNF114 Synonymous SNV G15G 0.005 0.008 0 7 6 3 0.018 0 1 0 0 2 6.151 49810 chr19 48784914 48784914 G C rs71357813 ZNF114 Nonsynonymous SNV A39P 0.016 0.023 0 13 19 9 0.033 0 1 0 0 1 0.772 49811 chr7 7561580 7561580 T C rs10486180 COL28A1 Nonsynonymous SNV I239V 0.063 0.07 0.051 37 74 27 0.095 15 2 2 0 1 13.22 49812 chr19 48846646 48846646 C T rs11672365 TMEM143 Synonymous SNV G109G 0.029 0.031 0.031 8 34 12 0.021 9 0 0 1 0 14.51 49813 chr7 45103558 45103558 C T rs148244188 CCM2 Synonymous SNV P24P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 13.08 49814 chr8 144620871 144620871 A G rs3750209 ZC3H3 Synonymous SNV S222S 0.126 0.156 0.17 66 148 60 0.169 50 15 3 7 4 0.002 49815 chr8 144621035 144621035 G A rs3750208 ZC3H3 Nonsynonymous SNV R168W 0.124 0.156 0.16 66 146 60 0.169 47 14 3 5 4 19.16 49816 chr7 6098685 6098685 C T rs112759781 EIF2AK1 Synonymous SNV K10K 0.014 0.005 0.01 8 16 2 0.021 3 0 0 0 0 10.32 49817 chr7 1484933 1484933 C T rs145100369 MICALL2 Nonsynonymous SNV R258Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.94 49818 chr11 78482113 78482113 G A rs34863597 TENM4 Synonymous SNV C821C 0.044 0.031 0.044 15 52 12 0.038 13 1 0 0 0 9.833 49819 chr19 49001600 49001600 A G rs61745738 LMTK3 Nonsynonymous SNV V938A 0.091 0.073 0.133 36 107 28 0.092 39 6 2 1 3 0.001 49820 chr8 144621091 144621091 A T rs3750206 ZC3H3 Nonsynonymous SNV F149Y 0.125 0.156 0.16 66 147 60 0.169 47 14 3 5 4 0.001 49821 chr19 49003060 49003060 C A rs201659713 LMTK3 Synonymous SNV P451P 0.019 0.01 0.024 4 22 4 0.01 7 0 0 1 1 14.66 49822 chr7 148709346 148709346 T C rs140513316 PDIA4 Nonsynonymous SNV T241A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Likely benign 9.747 49823 chr19 49004551 49004551 C T rs55953841 LMTK3 Synonymous SNV E359E 0.031 0.021 0.041 8 36 8 0.021 12 0 0 1 1 15.93 49824 chr7 21582917 21582917 C T rs2285942 DNAH11 Synonymous SNV T18T 0.097 0.086 0.085 38 114 33 0.097 25 5 3 0 3 Benign/Likely benign 15.22 49825 chr19 49006229 49006229 G A rs12462340 LMTK3 Synonymous SNV L223L 0.031 0.021 0.041 8 36 8 0.021 12 0 0 1 1 8.853 49826 chr19 55741995 55741995 T A rs373451269 PPP6R1 Synonymous SNV A876A 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 6.852 49827 chr7 148802018 148802018 G C rs752244757 ZNF425 Nonsynonymous SNV C315W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 49828 chr19 49138915 49138915 C T rs948445742 DBP Nonsynonymous SNV G158S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.89 49829 chr11 82443817 82443817 G A rs2291793 FAM181B Synonymous SNV L319L 0.138 0.128 0.255 45 162 49 0.115 75 20 7 7 2 7.981 49830 chr11 82443955 82443955 C T rs142346160 FAM181B Nonsynonymous SNV G273S 0.017 0.018 0.01 5 20 7 0.013 3 0 0 0 0 10.49 49831 chr7 148963652 148963652 C T rs61729506 ZNF783 Nonsynonymous SNV T84I 0.032 0.029 0.041 15 37 11 0.038 12 1 0 0 0 24.2 49832 chr8 144657600 144657600 G A rs2290416 NAPRT Synonymous SNV G401G 0.138 0.12 0.136 53 162 46 0.136 40 14 4 5 4 8.213 49833 chr7 86468717 86468717 A G rs200983283 GRM3 Synonymous SNV T629T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.127 49834 chr7 149490526 149490526 A G rs374370441 SSPO 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.551 49835 chr7 86542455 86542455 C T rs35895874 KIAA1324L Synonymous SNV G359G 0.068 0.078 0.078 35 80 30 0.09 23 1 0 1 1 13.75 49836 chr8 144671244 144671244 C G rs4874160 EEF1D Synonymous SNV R336R 0.094 0.094 0.01 39 110 36 0.1 3 7 2 1 3 4.931 49837 chr7 149506195 149506195 C T rs73727627 SSPO 0.007 0.008 0.01 0 8 3 0 3 0 0 0 0 14.51 49838 chr7 86813831 86813831 C G rs11974238 DMTF1 Synonymous SNV V225V 0.017 0.013 0.027 16 20 5 0.041 8 0 0 1 0 12.77 49839 chr19 49206905 49206905 G A rs368093519 FUT2 Nonsynonymous SNV R231Q 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 25.4 49840 chr7 149509512 149509512 C T rs73727634 SSPO 0.014 0.023 0.01 2 17 9 0.005 3 0 0 0 0 13.02 49841 chr7 149509691 149509691 G A rs73727635 SSPO 0.014 0.023 0.01 2 17 9 0.005 3 0 0 0 0 11.3 49842 chr8 144671956 144671956 G A rs3812447 EEF1D Nonsynonymous SNV A99V 0.095 0.094 0.085 40 112 36 0.103 25 7 2 1 3 0.006 49843 chr7 21784135 21784135 T A rs758449343 DNAH11 Nonsynonymous SNV V2745D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 32 49844 chr8 144681714 144681714 G A rs58573550 TIGD5 Synonymous SNV E547E 0.094 0.094 0.082 40 110 36 0.103 24 7 2 1 4 1.106 49845 chr7 77531113 77531113 T C rs78163487 PHTF2 Synonymous SNV P69P 0.074 0.076 0.088 26 87 29 0.067 26 3 2 1 2 3.04 49846 chr7 87229440 87229440 T C rs9282564 ABCB1 Nonsynonymous SNV N21D 0.062 0.047 0.044 20 73 18 0.051 13 1 0 0 0 drug response 0.005 49847 chr7 77824222 77824222 G A rs368616547 MAGI2 Synonymous SNV Y746Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.137 49848 chr7 7841338 7841338 C G rs11555073 UMAD1 Synonymous SNV G40G 0.098 0.089 0.078 23 115 34 0.059 23 8 3 0 1 1.757 49849 chr11 85396880 85396880 A C rs117983694 CCDC89 Nonsynonymous SNV N98K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.4 49850 chr7 47874839 47874839 G A rs149432210 PKD1L1 Synonymous SNV P1982P 0.009 0.008 0.014 2 10 3 0.005 4 0 0 0 0 Benign 0.078 49851 chr7 8009077 8009077 C A rs144036658 GLCCI1 Synonymous SNV P32P 0.027 0.016 0.031 18 32 6 0.046 9 2 0 0 3 16.88 49852 chr7 21805095 21805095 G A rs35865357 DNAH11 Nonsynonymous SNV R2997Q 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 35 49853 chr7 80141152 80141152 C T rs143118835 GNAT3 Nonsynonymous SNV A31T 0.024 0.031 0.02 12 28 12 0.031 6 0 1 0 0 25.1 49854 chr7 149519649 149519649 G C rs58369703 SSPO 0.014 0.01 0.01 1 16 4 0.003 3 0 0 0 0 12.42 49855 chr7 6547902 6547902 G A rs112305062 GRID2IP Nonsynonymous SNV P753L 0.066 0.057 0.044 32 77 22 0.082 13 8 1 2 5 27.9 49856 chr7 149519705 149519705 G A rs55857423 SSPO 0.013 0.013 0.01 1 15 5 0.003 3 0 0 0 0 10.31 49857 chr19 55967848 55967848 C T rs11555784 ISOC2 Synonymous SNV A2A 0.026 0.034 0.027 12 31 13 0.031 8 0 0 0 0 13.84 49858 chr7 22771038 22771038 A T rs2069860 IL6 Nonsynonymous SNV D86V 0.011 0.01 0 3 13 4 0.008 0 0 0 0 0 Benign 0.045 49859 chr7 6591051 6591051 G A rs201939179 GRID2IP Nonsynonymous SNV T6M 0.007 0 0 0 8 0 0 0 0 0 0 0 8.844 49860 chr7 6630046 6630046 C G rs146606811 C7orf26 Synonymous SNV P44P 0.014 0.005 0.014 1 17 2 0.003 4 0 0 0 0 13.51 49861 chr7 48058152 48058152 T C rs1915963 SUN3 Nonsynonymous SNV H31R 0.261 0.214 0.071 86 306 82 0.221 21 125 34 10 30 0.257 49862 chr11 85437226 85437226 T C rs75207631 SYTL2 Nonsynonymous SNV I1059V 0.004 0.013 0.01 2 5 5 0.005 3 0 0 0 0 0.484 49863 chr8 144877654 144877654 T G rs148494356 SCRIB Nonsynonymous SNV H1217P 0.04 0.026 0.051 15 47 10 0.038 15 1 1 0 0 21.5 49864 chr7 149558932 149558932 G A rs58661955 ZNF862 Nonsynonymous SNV A895T 0.014 0.01 0.007 1 16 4 0.003 2 0 0 0 0 Benign 9.793 49865 chr7 89856413 89856413 A G rs17865520 STEAP2 Synonymous SNV R207R 0.043 0.031 0.044 10 51 12 0.026 13 2 0 1 1 3.43 49866 chr7 48086151 48086151 G A rs111480809 C7orf57 Nonsynonymous SNV D27N 0.015 0.021 0.014 8 18 8 0.021 4 0 0 0 0 23.4 49867 chr7 149571095 149571095 G A rs79377053 ATP6V0E2 Nonsynonymous SNV A30T 0.029 0.029 0.014 4 34 11 0.01 4 0 0 1 0 13.54 49868 chr7 2309209 2309209 C T rs61753092 SNX8 Synonymous SNV L202L 0.025 0.021 0.014 9 29 8 0.023 4 1 0 0 0 11.59 49869 chr7 23309655 23309655 C G rs201324416 GPNMB Nonsynonymous SNV S442R 0.009 0.01 0.003 1 10 4 0.003 1 0 1 0 0 17.08 49870 chr11 86111834 86111834 C A rs117116227 CCDC81 Nonsynonymous SNV T201N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.001 49871 chr7 82997128 82997128 C A rs142204796 SEMA3E Nonsynonymous SNV S641I 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 Benign 8.216 49872 chr7 48142929 48142929 G A rs146593699 UPP1 Synonymous SNV L119L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 8.045 49873 chr7 23821123 23821123 A G rs41273999 STK31 Nonsynonymous SNV H661R 0.014 0.016 0.007 4 16 6 0.01 2 0 0 0 0 0.065 49874 chr7 83098590 83098590 A G rs374941561 SEMA3E Nonsynonymous SNV M42T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 8.268 49875 chr11 86126163 86126163 C A rs118081475 CCDC81 Nonsynonymous SNV P410H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 9.327 49876 chr7 48312084 48312084 G C rs78575608 ABCA13 Nonsynonymous SNV V941L 0.075 0.089 0.065 20 88 34 0.051 19 1 0 0 0 0.086 49877 chr7 7495735 7495735 T C rs55745506 COL28A1 Nonsynonymous SNV I437M 0.25 0.242 0.265 103 294 93 0.264 78 34 15 10 10 11.04 49878 chr7 91630620 91630620 G T rs6964587 AKAP9 Nonsynonymous SNV M463I 0.434 0.422 0.429 192 510 162 0.492 126 119 35 31 49 Benign 0.443 49879 chr7 86394593 86394593 G A rs56763064 GRM3 Synonymous SNV L44L 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 Benign 5.397 49880 chr7 91641928 91641928 A G rs13245393 AKAP9 Synonymous SNV E1168E 0.434 0.422 0.422 192 510 162 0.492 124 119 36 31 49 Benign/Likely benign 8.01 49881 chr7 150094854 150094854 C A rs771105072 ZNF775 Nonsynonymous SNV L429M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 49882 chr7 86817459 86817459 C T rs113752742 DMTF1 Nonsynonymous SNV T330M 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 16.35 49883 chr7 91652178 91652178 - AAC rs10644111 AKAP9 K1335_L1336insQ 0.433 0.422 0.432 191 508 162 0.49 127 120 36 32 49 49884 chr7 91691601 91691601 C T rs10236397 AKAP9 Synonymous SNV G1926G 0.415 0.409 0.388 191 487 157 0.49 114 118 35 30 49 Benign/Likely benign 13.77 49885 chr7 24324916 24324916 C T NPY Synonymous SNV L19L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.4 49886 chr11 8662649 8662649 A G rs61743935 TRIM66 Nonsynonymous SNV Y280H 0.049 0.068 0.048 25 57 26 0.064 14 0 1 0 2 24 49887 chr7 91708898 91708898 A G rs35759833 AKAP9 Nonsynonymous SNV K2484R 0.149 0.167 0.133 56 175 64 0.144 39 16 6 3 3 Benign/Likely benign 0.002 49888 chr11 8668082 8668082 C T rs61741649 TRIM66 Nonsynonymous SNV R145K 0.049 0.068 0.048 25 57 26 0.064 14 0 1 0 2 26.2 49889 chr7 91712698 91712698 A G rs6960867 AKAP9 Nonsynonymous SNV N2792S 0.434 0.419 0.425 192 509 161 0.492 125 118 35 30 49 Benign/Likely benign 1.912 49890 chr7 25218891 25218891 C T rs11980216 C7orf31 Nonsynonymous SNV E13K 0.024 0.018 0.027 9 28 7 0.023 8 1 0 0 0 28.5 49891 chr7 91713972 91713972 C T rs10228334 AKAP9 Synonymous SNV L2889L 0.432 0.417 0.422 192 507 160 0.492 124 118 36 31 49 Benign/Likely benign 6.936 49892 chr19 56329334 56329334 G C rs8113630 NLRP11 Synonymous SNV L69L 0.111 0.099 0.136 35 130 38 0.09 40 10 3 3 2 0.019 49893 chr11 8707083 8707083 G A rs2073686 SNORA3B 0.028 0.021 0.252 10 33 8 0.026 74 13 4 9 4 6.446 49894 chr7 91715662 91715662 C T rs28927678 AKAP9 Synonymous SNV L3049L 0.433 0.424 0.425 192 508 163 0.492 125 118 36 30 49 Benign/Likely benign 12.98 49895 chr8 144995939 144995939 G A rs35723243 PLEC Nonsynonymous SNV R2670W 0.035 0.034 0.024 15 41 13 0.038 7 1 0 0 0 Benign 23.7 49896 chr7 91726927 91726927 A C rs1063243 AKAP9 Synonymous SNV R3476R 0.434 0.424 0.374 192 510 163 0.492 110 119 36 31 49 Benign/Likely benign 0.003 49897 chr7 87822534 87822534 G A rs182800008 ADAM22 Nonsynonymous SNV V857M 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 27.9 49898 chr7 91779971 91779971 T G rs6465353 LRRD1 Nonsynonymous SNV I719L 0.432 0.424 0.449 193 507 163 0.495 132 116 33 34 49 11.34 49899 chr7 2629644 2629644 G T rs180961841 IQCE Nonsynonymous SNV R318L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 7.847 49900 chr7 48626771 48626771 C T rs61737750 ABCA13 Nonsynonymous SNV R4843C 0.016 0.016 0.003 3 19 6 0.008 1 0 0 0 0 24.4 49901 chr7 4899694 4899694 T C rs77680119 PAPOLB Nonsynonymous SNV N583S 0.008 0.008 0.01 9 9 3 0.023 3 0 0 0 0 0.001 49902 chr7 26765596 26765596 C A rs1129771 SKAP2 Nonsynonymous SNV A30S 0.07 0.07 0.099 39 82 27 0.1 29 4 0 1 0 4.565 49903 chr19 49993535 49993535 C G rs1064257 RPL13A Synonymous SNV G45G 0.059 0.076 0.092 20 69 29 0.051 27 3 0 2 1 15.11 49904 chr8 144998052 144998052 T A rs200540800 PLEC Nonsynonymous SNV K2001N 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Uncertain significance 17.74 49905 chr7 88964226 88964226 C A rs79931924 ZNF804B Nonsynonymous SNV P644T 0.086 0.076 0.082 24 101 29 0.062 24 3 1 0 0 0.001 49906 chr7 88964227 88964227 C G rs76870774 ZNF804B Nonsynonymous SNV P644R 0.086 0.076 0.082 24 101 29 0.062 24 3 1 0 0 0.031 49907 chr7 88965141 88965141 A G rs6962993 ZNF804B Nonsynonymous SNV N949D 0.086 0.078 0.082 24 101 30 0.062 24 3 1 0 0 3.705 49908 chr8 144998495 144998495 G A rs200543521 PLEC Nonsynonymous SNV R1854W 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 24.7 49909 chr7 88965609 88965609 A G rs6963781 ZNF804B Nonsynonymous SNV M1105V 0.089 0.076 0.085 24 104 29 0.062 25 4 1 0 0 7.951 49910 chr7 92732769 92732769 T C rs140921998 SAMD9 Nonsynonymous SNV D881G 0.052 0.042 0.031 18 61 16 0.046 9 1 1 0 0 23.2 49911 chr7 79842157 79842157 T C rs10241877 GNAI1 Synonymous SNV P230P 0.081 0.078 0.082 33 95 30 0.085 24 5 1 2 0 3.884 49912 chr7 89856433 89856433 G A rs13228098 STEAP2 Nonsynonymous SNV G214E 0.019 0.008 0.003 12 22 3 0.031 1 0 0 0 1 22.3 49913 chr7 2578924 2578924 G A rs61746940 BRAT1 Synonymous SNV L378L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 6.668 49914 chr7 80302150 80302150 A - rs753754773 CD36 I360Ffs*4 0.008 0.005 0.003 1 9 2 0.003 1 1 0 0 0 49915 chr19 56467375 56467375 C T rs41481648 NLRP8 Nonsynonymous SNV R651W 0.092 0.076 0.088 35 108 29 0.09 26 6 0 0 2 21.9 49916 chr7 26192564 26192564 C T rs200699467 NFE2L3 Nonsynonymous SNV A149V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 23.3 49917 chr7 2625848 2625848 G A rs191503365 IQCE Synonymous SNV L212L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 4.367 49918 chr7 150730999 150730999 G A rs4148844 ABCB8 Nonsynonymous SNV V135I 0.014 0.031 0.048 9 16 12 0.023 14 0 0 0 0 7.408 49919 chr11 9116224 9116224 G T rs2133214 KRT8P41 0 0 0.109 0 0 0 0 32 0 0 12 0 0.147 49920 chr7 150739054 150739054 G A rs56198402 ABCB8 Nonsynonymous SNV V454I 0.011 0.026 0.048 6 13 10 0.015 14 0 0 0 0 18.39 49921 chr7 5232789 5232789 C T rs200241348 WIPI2 Nonsynonymous SNV R39C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.16 49922 chr11 9116836 9116836 G A rs7949022 KRT8P41 0 0 0.19 0 0 0 0 56 0 0 7 0 3.302 49923 chr7 150742388 150742388 A C rs61741011 ABCB8 Synonymous SNV P615P 0.012 0.031 0.048 8 14 12 0.021 14 0 0 0 0 3.819 49924 chr7 150746338 150746338 C T rs62001896 ASIC3 Synonymous SNV H122H 0.044 0.029 0.031 21 52 11 0.054 9 2 0 1 0 8.13 49925 chr19 50393238 50393238 C T rs541635369 IL4I1 Nonsynonymous SNV E465K 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 13.09 49926 chr7 29519929 29519929 A G rs3750103 CHN2 Nonsynonymous SNV H68R 0.082 0.052 0.092 27 96 20 0.069 27 5 0 1 0 10.39 49927 chr19 50393602 50393602 C T rs370733407 IL4I1 Synonymous SNV A343A 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 18.1 49928 chr19 56515426 56515426 G A rs34165304 NLRP5 Nonsynonymous SNV R136Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 1.9 49929 chr7 150768849 150768849 C T rs11542749 SLC4A2 Synonymous SNV C746C 0.02 0.023 0.031 11 24 9 0.028 9 1 0 0 0 7.781 49930 chr7 2671862 2671862 T G rs200607825 TTYH3 Nonsynonymous SNV W25G 0.013 0.013 0.003 7 15 5 0.018 1 0 0 0 0 24.3 49931 chr7 94173803 94173803 T C rs13242090 CASD1 Synonymous SNV F205F 0.106 0.115 0.075 28 124 44 0.072 22 6 2 0 0 0.469 49932 chr19 50484234 50484234 G A rs16981617 VRK3 Synonymous SNV C368C 0.098 0.135 0.085 41 115 52 0.105 25 6 2 1 0 6.794 49933 chr8 145108151 145108151 G A rs61732533 OPLAH Synonymous SNV Y944Y 0.058 0.057 0.027 17 68 22 0.044 8 2 1 0 0 6.912 49934 chr7 150912750 150912750 G T rs12538823 ABCF2, LOC114483834 Synonymous SNV I490I 0.049 0.042 0.044 25 58 16 0.064 13 1 1 0 1 12.35 49935 chr7 150912786 150912786 T C rs7786151 ABCF2, LOC114483834 Synonymous SNV S478S 0.056 0.042 0.048 26 66 16 0.067 14 1 1 0 1 5.461 49936 chr8 145154222 145154222 G A rs34674752 SHARPIN Nonsynonymous SNV P294S 0.058 0.055 0.031 17 68 21 0.044 9 2 1 0 0 Benign 22.1 49937 chr19 56703248 56703248 G A rs527025 ZSCAN5B Nonsynonymous SNV P187S 0.253 0.214 0.238 94 297 82 0.241 70 39 7 9 11 12.2 49938 chr7 94919525 94919525 A G rs61749906 PPP1R9A Synonymous SNV L1061L 0.063 0.068 0.051 25 74 26 0.064 15 4 0 1 1 0.553 49939 chr11 93454832 93454835 GTGT - rs139561015 SCARNA9 0 0 0.092 0 0 0 0 27 0 0 5 0 49940 chr19 56704101 56704101 G A rs11084427 ZSCAN5B Synonymous SNV N107N 0.25 0.201 0.238 96 294 77 0.246 70 39 7 9 12 4.587 49941 chr7 150935430 150935430 G C rs3748098 CHPF2 Nonsynonymous SNV G661A 0.032 0.031 0.041 13 37 12 0.033 12 2 1 0 0 0.006 49942 chr7 55268916 55268916 C T rs2293347 EGFR Synonymous SNV D727D 0.083 0.081 0.078 21 97 31 0.054 23 4 1 2 0 Benign 11.96 49943 chr7 2749361 2749361 G A rs374323243 AMZ1 Nonsynonymous SNV R230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 49944 chr7 89854499 89854499 G A rs544909253 STEAP2 Nonsynonymous SNV V35M 0.007 0.003 0 0 8 1 0 0 1 0 0 0 26.1 49945 chr7 96339061 96339061 C T rs4733 SEM1 Synonymous SNV K5K 0.048 0.065 0.048 24 56 25 0.062 14 1 2 0 0 13.31 49946 chr7 97736577 97736577 C G rs3735252 LMTK2 Nonsynonymous SNV P30A 0.028 0.021 0.034 15 33 8 0.038 10 5 1 1 1 23.5 49947 chr7 90001496 90001496 G C rs35001814 GTPBP10 Nonsynonymous SNV L85F 0.129 0.083 0.126 55 152 32 0.141 37 10 0 1 4 23 49948 chr19 56733417 56733417 T C rs369515811 ZSCAN5A Nonsynonymous SNV S223G 0.003 0 0 5 3 0 0.013 0 0 0 0 0 0.001 49949 chr7 90014408 90014408 G A rs17863999 GTPBP10 Nonsynonymous SNV M289I 0.175 0.141 0.18 83 206 54 0.213 53 16 3 2 10 0.002 49950 chr7 91729127 91729127 A G rs34327395 AKAP9 Nonsynonymous SNV M3614V 0.018 0.023 0.017 8 21 9 0.021 5 0 0 0 0 Benign/Likely benign 12.02 49951 chr7 91700267 91700267 T C rs76177450 AKAP9 Nonsynonymous SNV S2186P 0.004 0 0.014 1 5 0 0.003 4 1 0 0 0 Benign/Likely benign 16.42 49952 chr7 92027808 92027808 T G rs199861630 ANKIB1 Nonsynonymous SNV S939A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 8.704 49953 chr7 98457901 98457901 T C TMEM130 Nonsynonymous SNV Y49C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.7 49954 chr19 57036488 57036488 G C rs148793942 ZNF471 Nonsynonymous SNV C277S 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 24.6 49955 chr8 145541766 145541766 G T rs55962377 DGAT1 Nonsynonymous SNV T248N 0.099 0.081 0.075 26 116 31 0.067 22 6 0 0 0 Benign 17.63 49956 chr7 99084250 99084250 C T rs373861180 ZNF789 Synonymous SNV C122C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.76 49957 chr7 99454482 99454482 G A rs45621431 CYP3A43 Nonsynonymous SNV M165I 0.023 0.029 0.041 9 27 11 0.023 12 1 0 1 0 24.5 49958 chr8 145542021 145542021 G A rs56180335 DGAT1 Synonymous SNV G193G 0.078 0.068 0.054 17 92 26 0.044 16 3 0 0 0 Benign 6.326 49959 chr11 95555086 95555086 C T rs149293164 CEP57 Nonsynonymous SNV P251S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.008 49960 chr7 295867 295867 C T rs149513190 FAM20C Synonymous SNV H375H 0.064 0.06 0.048 33 75 23 0.085 14 3 2 0 0 13.61 49961 chr11 95712558 95712558 A C rs182630516 MAML2 Nonsynonymous SNV F1009V 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 23.3 49962 chr7 99706109 99706109 C G rs770429821 TAF6 Nonsynonymous SNV A484P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.8 49963 chr11 95826485 95826485 T C rs61749253 MAML2 Nonsynonymous SNV Q237R 0.004 0.013 0.01 2 5 5 0.005 3 0 0 0 0 14.36 49964 chr7 94227273 94227273 C T rs183951730 SGCE Nonsynonymous SNV D433N 0.01 0.016 0.007 7 12 6 0.018 2 0 0 0 0 Benign/Likely benign 16.44 49965 chr7 94227275 94227275 C T rs559235992 SGCE Nonsynonymous SNV S432N 0.032 0.026 0.01 11 38 10 0.028 3 0 1 0 0 Benign 0.002 49966 chr8 100844758 100844758 T C rs36074608 VPS13B Synonymous SNV S3189S 0.162 0.177 0.163 75 190 68 0.192 48 21 3 4 4 Benign 0.713 49967 chr7 64389023 64389023 T C rs190100253 ZNF273 Synonymous SNV F439F 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 11.04 49968 chr7 94232664 94232664 C T rs759032005 SGCE Nonsynonymous SNV V214I 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.4 49969 chr11 9830600 9830600 G C rs151111508 SBF2-AS1 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 1.467 49970 chr19 57293429 57293429 C T ZIM2 Nonsynonymous SNV D180N 0.003 0 0 5 3 0 0.013 0 0 0 0 0 24 49971 chr11 9830732 9830732 A T rs10770066 SBF2-AS1 0 0 0.772 0 0 0 0 227 0 0 107 0 Benign 2.113 49972 chr11 9853777 9853777 G C rs12574508 SBF2 Nonsynonymous SNV Q1216E 0.078 0.089 0.085 26 91 34 0.067 25 2 1 2 1 Benign 7.592 49973 chr7 95216421 95216421 G A rs11541299 PDK4 Synonymous SNV Y332Y 0.071 0.073 0.071 30 83 28 0.077 21 4 0 0 2 7.174 49974 chr7 30825575 30825575 C A rs12672184 MINDY4 Synonymous SNV G210G 0.051 0.052 0.044 21 60 20 0.054 13 2 3 1 0 13.61 49975 chr7 30831181 30831181 C T rs12672119 MINDY4 Nonsynonymous SNV A355V 0.051 0.055 0.044 21 60 21 0.054 13 2 3 1 0 0.048 49976 chr8 101718987 101718987 G A rs62513923 PABPC1 Synonymous SNV A498A 0.166 0.208 0.003 59 195 80 0.151 1 0 0 0 0 16.46 49977 chr8 101719004 101719004 G A rs62513924 PABPC1 Nonsynonymous SNV R493C 0.17 0.219 0.003 56 199 84 0.144 1 0 0 0 0 25 49978 chr7 34085921 34085921 G A rs74734392 BMPER Nonsynonymous SNV G194S 0.01 0.01 0.003 4 12 4 0.01 1 1 0 0 0 Benign 25.8 49979 chr7 98779583 98779583 G T rs978701684 KPNA7 Nonsynonymous SNV P414T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Uncertain significance 26.5 49980 chr8 103306033 103306033 T C rs16869352 UBR5 Synonymous SNV V1463V 0.07 0.06 0.078 25 82 23 0.064 23 2 0 1 2 9.216 49981 chr8 103311153 103311153 C T rs61752302 UBR5 Synonymous SNV A1083A 0.033 0.029 0.041 8 39 11 0.021 12 0 0 0 0 18.6 49982 chr7 96650206 96650206 G T rs148894146 DLX5 Nonsynonymous SNV H238N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 49983 chr19 51645726 51645726 G A rs144363592 SIGLEC7 Nonsynonymous SNV V34M 0.009 0.013 0.01 4 10 5 0.01 3 0 0 0 0 23 49984 chr7 99026740 99026740 G A rs140372739 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R301W 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 29.8 49985 chr7 99273810 99273810 - C rs200579169 CYP3A5 Frameshift insertion L32Tfs*3 0.014 0.016 0.014 4 16 6 0.01 4 0 0 0 0 49986 chr7 99273815 99273815 G A rs28383468 CYP3A5 Nonsynonymous SNV H30Y 0.014 0.016 0.014 4 16 6 0.01 4 0 0 0 0 0.001 49987 chr7 99447297 99447297 A G CYP3A43 Nonsynonymous SNV D217G 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.95 49988 chr8 103663912 103663912 T G rs11552577 KLF10 Synonymous SNV T205T 0.176 0.208 0.173 60 207 80 0.154 51 20 11 7 7 0.026 49989 chr7 97933588 97933588 C T rs35637370 BAIAP2L1 Nonsynonymous SNV A448T 0.02 0.031 0.007 5 23 12 0.013 2 0 0 0 0 13.51 49990 chr12 100957261 100957261 G A NR1H4 Synonymous SNV V481V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.821 49991 chr8 145999617 145999619 TTT - rs3830702 ZNF34 K199del 0.037 0.023 0.031 19 44 9 0.049 9 0 0 1 0 49992 chr7 6662599 6662599 G T rs138360276 ZNF853 Synonymous SNV L644L 0.008 0.021 0.037 7 9 8 0.018 11 0 2 0 0 1.938 49993 chr7 98630587 98630587 - A rs139310092 LOC101927550 0.089 0.096 0.092 35 104 37 0.09 27 7 1 0 0 49994 chr8 146035691 146035691 A G rs111602026 LOC100130027 0.025 0.042 0.024 8 29 16 0.021 7 1 0 0 0 2.526 49995 chr7 99445180 99445180 C T rs766855419 CYP3A43 Stop gain R130X 0.003 0 0.007 0 3 0 0 2 0 0 0 0 36 49996 chr7 6692096 6692096 C T rs62439671 ZNF316 Nonsynonymous SNV S290L 0.043 0.049 0.054 22 51 19 0.056 16 1 1 0 3 10.68 49997 chr7 6692105 6692105 C T rs3735302 ZNF316 Nonsynonymous SNV T293I 0.053 0.063 0.082 25 62 24 0.064 24 1 1 1 3 9.236 49998 chr19 51857614 51857614 - G rs141529162 ETFB Frameshift insertion P94Tfs*8 0.062 0.063 0.078 23 73 24 0.059 23 0 1 0 0 49999 chr19 51875060 51875060 C T rs141225092 NKG7 Nonsynonymous SNV G157S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.017 50000 chr8 17125768 17125768 T C rs11555738 VPS37A Synonymous SNV L43L 0.196 0.182 0.003 70 230 70 0.179 1 19 9 0 5 Benign 12.58 50001 chr8 100977644 100977644 T C rs147697097 RGS22 Synonymous SNV Q997Q 0.036 0.026 0.034 15 42 10 0.038 10 0 0 0 0 0.01 50002 chr19 57932294 57932294 C T rs80002670 ZNF17 Synonymous SNV F478F 0.013 0.01 0.017 8 15 4 0.021 5 0 0 0 0 14.45 50003 chr8 101206391 101206391 G A rs17335870 SPAG1 Nonsynonymous SNV E331K 0.176 0.206 0.187 89 207 79 0.228 55 30 11 7 11 Benign 0.104 50004 chr7 19156378 19156378 G A TWIST1 Synonymous SNV V189V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.2 50005 chr19 51995034 51995034 G A rs148583756 SIGLEC12 Nonsynonymous SNV P432L 0.014 0.018 0.007 6 16 7 0.015 2 0 0 0 0 16.37 50006 chr8 100844615 100844615 A G rs113671330 VPS13B Nonsynonymous SNV S3142G 0.014 0.018 0.007 4 16 7 0.01 2 0 0 0 0 Benign 18.7 50007 chr8 100865682 100865682 G T rs61753726 VPS13B Synonymous SNV A3380A 0.033 0.052 0.034 17 39 20 0.044 10 0 1 0 0 Benign 1.106 50008 chr7 36763646 36763646 C T rs2228412 AOAH Synonymous SNV S36S 0.054 0.057 0.031 16 63 22 0.041 9 3 2 0 0 10.48 50009 chr7 2108927 2108927 G A rs199616934 MAD1L1 Nonsynonymous SNV R282W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 50010 chr7 37923923 37923923 T C rs62001870 NME8 Nonsynonymous SNV I338T 0.076 0.094 0.051 16 89 36 0.041 15 5 0 1 1 Benign 23.1 50011 chr8 10396123 10396123 C T rs73195184 PRSS55 Synonymous SNV L293L 0.015 0.016 0.02 3 18 6 0.008 6 0 0 0 0 4.712 50012 chr12 103561974 103561982 CCAATCCAT - rs145528404 LOC101929058 0 0 0.122 0 0 0 0 36 0 0 2 0 50013 chr12 104136289 104136289 G A rs35102665 STAB2 Synonymous SNV A1996A 0.021 0.018 0.003 4 25 7 0.01 1 1 0 0 0 16.49 50014 chr7 21628196 21628196 C T rs200073714 DNAH11 Stop gain Q639X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.5 50015 chr8 104987711 104987711 A T rs34236346 RIMS2 Synonymous SNV S807S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 1.015 50016 chr8 101721756 101721756 A C rs57799615 PABPC1 Synonymous SNV V392V 0.187 0.242 0.211 60 220 93 0.154 62 0 0 0 0 5.46 50017 chr12 104186995 104186995 G A rs61748068 NT5DC3 Synonymous SNV F322F 0.059 0.055 0.044 13 69 21 0.033 13 2 1 1 1 13.9 50018 chr12 104237829 104237829 T G rs1370780 TTC41P 0 0 0.303 0 0 0 0 89 0 0 15 0 3.672 50019 chr12 104254932 104254932 G A rs11111817 TTC41P 0 0 0.381 0 0 0 0 112 0 0 23 0 10.13 50020 chr8 105479134 105479134 C T rs182332679 DPYS Synonymous SNV S5S 0.023 0.029 0.02 10 27 11 0.026 6 0 0 0 1 Benign 15.85 50021 chr12 104260208 104260208 C T rs11612613 TTC41P 0 0 0.269 0 0 0 0 79 0 0 11 0 6.199 50022 chr12 104309383 104309383 C T rs9788014 TTC41P 0 0 0.078 0 0 0 0 23 0 0 1 0 2.037 50023 chr12 104309559 104309559 C T rs73177924 TTC41P 0 0 0.058 0 0 0 0 17 0 0 1 0 1.411 50024 chr7 3991458 3991458 G A rs145487920 SDK1 Synonymous SNV P352P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.97 50025 chr12 104327979 104327979 C T rs6615 HSP90B1 Synonymous SNV T219T 0.064 0.065 0.078 15 75 25 0.038 23 1 2 1 2 14.94 50026 chr12 104341188 104341190 GAA - rs201427769 HSP90B1 E791del 0.055 0.049 0.071 11 65 19 0.028 21 1 1 1 2 50027 chr7 3991479 3991479 A G rs6961589 SDK1 Synonymous SNV P359P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.332 50028 chr8 19192332 19192332 G T rs56005620 SH2D4A Synonymous SNV S114S 0.185 0.182 0.228 81 217 70 0.208 67 20 6 9 10 0.676 50029 chr8 103250839 103250839 - G rs5893603 RRM2B Frameshift insertion R71Pfs*28 0.083 0.068 0.095 28 98 26 0.072 28 3 0 1 2 50030 chr7 4014022 4014022 C T rs6977582 SDK1 Synonymous SNV N613N 0.009 0.013 0.003 1 10 5 0.003 1 0 0 0 0 9.879 50031 chr8 19218766 19218766 A G rs4921637 SH2D4A Nonsynonymous SNV E171G 0.125 0.128 0.163 63 147 49 0.162 48 13 2 7 3 23.7 50032 chr8 103250930 103250930 C T rs1037699 RRM2B Nonsynonymous SNV A41T 0.083 0.068 0.099 27 98 26 0.069 29 3 0 1 2 12.99 50033 chr7 7571115 7571115 C T rs201967894 COL28A1 Nonsynonymous SNV G182E 0.005 0.016 0.017 1 6 6 0.003 5 0 0 1 0 27.5 50034 chr8 19277985 19277985 T C rs146205646 CSGALNACT1 Nonsynonymous SNV E333G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 29 50035 chr8 103250991 103250991 C T rs28999669 RRM2B Synonymous SNV L20L 0.129 0.128 0.133 33 152 49 0.085 39 16 2 1 2 Benign 8.349 50036 chr8 103276753 103276753 T G rs12707772 UBR5 Synonymous SNV L2544L 0.146 0.156 0.071 43 171 60 0.11 21 18 4 2 2 10.9 50037 chr7 43918335 43918335 G T rs752715140 URGCP Nonsynonymous SNV P234T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.224 50038 chr8 103307533 103307533 T C rs9650002 UBR5 Synonymous SNV L1319L 0.126 0.133 0.129 34 148 51 0.087 38 16 2 1 2 4.744 50039 chr8 1951107 1951107 C T rs539748266 KBTBD11 Synonymous SNV G583G 0.008 0.008 0.007 5 9 3 0.013 2 0 0 0 0 11.21 50040 chr19 52568397 52568397 G A rs769211631 ZNF841 Nonsynonymous SNV P797L 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 17.92 50041 chr8 196274 196274 T G rs2072174 ZNF596 Nonsynonymous SNV V476G 0.044 0.039 0.024 21 52 15 0.054 7 2 1 0 0 0.459 50042 chr19 52618506 52618506 C T rs45591734 ZNF616 Synonymous SNV Q637Q 0.043 0.055 0.037 8 50 21 0.021 11 0 1 1 0 8.674 50043 chr8 20005554 20005554 G C rs17092104 SLC18A1 Nonsynonymous SNV L360V 0.101 0.117 0.092 37 118 45 0.095 27 3 1 0 2 26.9 50044 chr19 52619065 52619065 T C rs3764537 ZNF616 Nonsynonymous SNV H451R 0.12 0.148 0.153 55 141 57 0.141 45 4 5 6 4 0.002 50045 chr7 21901593 21901593 G A rs12666072 DNAH11 Synonymous SNV A3775A 0.032 0.034 0.031 14 38 13 0.036 9 1 1 0 1 Benign/Likely benign 14.35 50046 chr7 44154453 44154453 G A rs142305815 POLD2 Synonymous SNV C447C 0.01 0.008 0.007 3 12 3 0.008 2 0 0 0 0 9.416 50047 chr7 21907590 21907590 C T rs72658814 DNAH11 Nonsynonymous SNV P3935L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 34 50048 chr7 44251857 44251857 A G rs777279932 YKT6 Synonymous SNV Q157Q 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 7.326 50049 chr19 52659872 52659872 T C rs61739527 ZNF836 Nonsynonymous SNV E355G 0.059 0.065 0.037 15 69 25 0.038 11 2 1 1 0 18.91 50050 chr8 10480385 10480385 - A rs771427543 RP1L1 Frameshift insertion K111Qfs*27 0.001 0.003 0 0 1 1 0 0 0 0 0 0 50051 chr7 4259898 4259898 C T rs145700710 SDK1 Synonymous SNV A386A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.68 50052 chr7 44579366 44579366 G A rs759111600 NPC1L1 Synonymous SNV G210G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.574 50053 chr8 20107601 20107601 G C rs723874 LZTS1 Nonsynonymous SNV L475V 0.035 0.026 0.048 20 41 10 0.051 14 1 0 1 1 20.5 50054 chr8 105361095 105361095 C T rs3088027 DCSTAMP Synonymous SNV I105I 0.144 0.138 0.109 52 169 53 0.133 32 16 3 2 3 16 50055 chr7 2290522 2290522 C T rs1799832 NUDT1 Synonymous SNV D119D 0.197 0.232 0.211 64 231 89 0.164 62 22 13 7 4 10.33 50056 chr8 105361354 105361354 G C rs67114147 DCSTAMP Nonsynonymous SNV E192Q 0.144 0.138 0.109 52 169 53 0.133 32 16 3 2 3 2.476 50057 chr7 7712942 7712947 AGCAGC - rs56962308 UMAD1 0.026 0.016 0.007 16 31 6 0.041 2 4 0 0 4 50058 chr7 43503363 43503363 G A HECW1 Nonsynonymous SNV S885N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 50059 chr7 2297212 2297212 C T rs62442513 MIR6836 0.179 0.203 0.201 60 210 78 0.154 59 19 7 5 4 4.212 50060 chr8 105367121 105367121 A G rs3802204 DCSTAMP Nonsynonymous SNV D349G 0.15 0.135 0.116 56 176 52 0.144 34 17 3 2 2 3.258 50061 chr8 10464561 10464561 A G rs202213014 RP1L1 Synonymous SNV T2349T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.592 50062 chr8 10464675 10464675 C A rs775735447 RP1L1 Nonsynonymous SNV Q2311H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.54 50063 chr19 59073740 59073740 G C rs150630080 MZF1 Nonsynonymous SNV T635R 0.002 0 0 6 2 0 0.015 0 0 0 0 0 23.1 50064 chr8 21550800 21550800 A T rs1128397 GFRA2 Nonsynonymous SNV L329Q 0.396 0.417 0.425 154 465 160 0.395 125 92 31 27 31 24.8 50065 chr12 10746385 10746385 G A rs2244387 KLRA1P 0 0 0.748 0 0 0 0 220 0 0 81 0 4.694 50066 chr8 117768004 117768004 A G EIF3H Synonymous SNV T11T 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 2.802 50067 chr8 117783975 117783975 C T rs16888728 UTP23 Nonsynonymous SNV P215L 0.062 0.083 0.112 28 73 32 0.072 33 0 2 3 1 11.46 50068 chr7 43992426 43992426 C G rs1045398 POLR2J4 0.09 0.081 0.061 21 106 31 0.054 18 1 0 0 0 13.61 50069 chr8 117864217 117864217 A G rs1050838 RAD21 Synonymous SNV A480A 0.203 0.234 0.17 73 238 90 0.187 50 20 8 6 11 Benign 9.032 50070 chr8 110393640 110393640 G T rs189907709 PKHD1L1 Nonsynonymous SNV A69S 0.021 0.021 0 3 25 8 0.008 0 0 0 0 0 12.85 50071 chr12 108913066 108913066 C T rs145435807 FICD Synonymous SNV S397S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.223 50072 chr8 22021037 22021037 C A rs4715 SFTPC Nonsynonymous SNV T85N 0.322 0.294 0.316 132 378 113 0.338 93 61 12 20 25 Benign/Likely benign 23.4 50073 chr20 278291 278291 G C rs1051991851 ZCCHC3 Nonsynonymous SNV A22P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 50074 chr8 10467637 10467637 - CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC rs369606728 RP1L1 E1323_E1324insGTKVIEGLQEERVQLE 0.241 0.232 0.177 95 283 89 0.244 52 59 16 11 17 50075 chr12 108941679 108941679 G A rs12579216 SART3 Synonymous SNV A176A 0.108 0.107 0.105 38 127 41 0.097 31 8 2 1 1 15.55 50076 chr7 44180652 44180652 G T rs4440539 MYL7 Synonymous SNV R9R 0.02 0.031 0.02 14 23 12 0.036 6 1 0 0 1 10.35 50077 chr8 120744293 120744293 C T rs61753747 TAF2 Synonymous SNV K1157K 0.025 0.029 0.044 8 29 11 0.021 13 0 0 0 0 15.45 50078 chr8 110523018 110523018 A G rs199877442 PKHD1L1 Nonsynonymous SNV H3803R 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 24.2 50079 chr7 87056176 87056176 T C rs2230028 ABCB4 Nonsynonymous SNV R652G 0.065 0.078 0.071 26 76 30 0.067 21 2 2 0 1 Benign 0.044 50080 chr7 45077978 45077978 G A rs2107732 CCM2 Nonsynonymous SNV V74I 0.078 0.068 0.075 35 92 26 0.09 22 3 1 1 0 Benign 14.03 50081 chr7 47860690 47860690 G A rs139293796 PKD1L1 Nonsynonymous SNV R2317W 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Likely benign 31 50082 chr8 10623240 10623240 T C rs17711777 PINX1 Nonsynonymous SNV T220A 0.043 0.026 0.037 11 51 10 0.028 11 0 0 0 0 0.001 50083 chr8 22481483 22481483 T C rs200582557 BIN3 Nonsynonymous SNV Y139C 0.009 0.013 0 9 11 5 0.023 0 0 0 0 0 16.52 50084 chr19 53302942 53302942 C T rs9917044 ZNF28 Synonymous SNV X666X 0.025 0.01 0.874 13 29 4 0.033 257 13 1 120 5 11.41 50085 chr20 1456970 1456970 C T rs41275406 SIRPB2 Nonsynonymous SNV V291M 0.058 0.065 0.044 21 68 25 0.054 13 1 1 0 0 14.08 50086 chr8 124440174 124440174 A G rs6999234 WDYHV1 Nonsynonymous SNV I32V 0.313 0.326 0.371 121 367 125 0.31 109 64 19 25 19 4.055 50087 chr8 124448736 124448736 A G rs7014678 WDYHV1 Nonsynonymous SNV N33S 0.313 0.326 0.384 121 367 125 0.31 113 63 19 25 19 5.581 50088 chr7 881682 881682 C T rs41273066 SUN1 Synonymous SNV V122V 0.012 0.01 0.003 7 14 4 0.018 1 0 0 0 0 Benign 9.453 50089 chr8 124448804 124448804 T A rs6470147 WDYHV1 Nonsynonymous SNV F56I 0.313 0.326 0.384 121 368 125 0.31 113 64 19 25 19 23.7 50090 chr7 48033959 48033959 A G rs368900181 SUN3 Nonsynonymous SNV S272P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 31 50091 chr8 124449466 124449466 C T rs3824250 WDYHV1 Nonsynonymous SNV R74C 0.313 0.326 0.384 121 367 125 0.31 113 64 19 25 19 34 50092 chr7 2748758 2748758 G C rs59438885 AMZ1 Synonymous SNV S217S 0.103 0.099 0.085 30 121 38 0.077 25 14 3 1 4 4.918 50093 chr19 53554075 53554075 A G rs1650983 ERVV-2 Nonsynonymous SNV Q524R 0.135 0.135 0.146 54 158 52 0.138 43 10 3 5 3 7.053 50094 chr8 124664594 124664594 C T rs61730397 KLHL38 Synonymous SNV G191G 0.046 0.068 0.044 11 54 26 0.028 13 0 2 0 0 10.99 50095 chr20 2082767 2082767 G A rs6106228 STK35 Synonymous SNV Q80Q 0.043 0.036 0.037 17 50 14 0.044 11 4 1 1 1 4.618 50096 chr7 48266876 48266876 C A rs17132152 ABCA13 Synonymous SNV T162T 0.014 0.021 0.02 5 17 8 0.013 6 0 1 0 0 12.99 50097 chr20 2188032 2188032 G - rs201989961 LOC388780 0.036 0.036 0.024 16 42 14 0.041 7 0 0 0 0 50098 chr8 124665124 124665124 C T rs61910739 KLHL38 Nonsynonymous SNV D15N 0.046 0.068 0.044 11 54 26 0.028 13 0 2 0 0 3.798 50099 chr7 48285167 48285167 A G rs113452211 ABCA13 Synonymous SNV Q483Q 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.872 50100 chr7 48311602 48311602 G A rs116299940 ABCA13 Nonsynonymous SNV S780N 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 10.09 50101 chr7 48312490 48312490 G A rs116705389 ABCA13 Nonsynonymous SNV R1076H 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 18.88 50102 chr8 117950653 117950653 G A rs774353945 AARD Synonymous SNV E57E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.18 50103 chr7 48313256 48313256 A G rs75846399 ABCA13 Nonsynonymous SNV I1331M 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.001 50104 chr20 2464112 2464112 T C rs61740142 ZNF343 Nonsynonymous SNV R409G 0.058 0.049 0.048 21 68 19 0.054 14 0 1 1 0 4.227 50105 chr7 48313563 48313563 A G rs17132195 ABCA13 Nonsynonymous SNV I1434V 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.001 50106 chr7 30693081 30693081 C T rs77113016 CRHR2 Nonsynonymous SNV V410M 0.004 0.016 0.007 1 5 6 0.003 2 0 0 0 0 Benign 22.8 50107 chr7 48314330 48314330 A G rs17132196 ABCA13 Synonymous SNV L1689L 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.047 50108 chr8 24813363 24813363 G A rs60156239 NEFL Synonymous SNV L223L 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign/Likely benign 14.35 50109 chr7 48314929 48314929 T A rs17132197 ABCA13 Nonsynonymous SNV I1889K 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 8.493 50110 chr8 124359419 124359419 G A rs143969341 ATAD2 Synonymous SNV L709L 0.01 0.005 0.003 5 12 2 0.013 1 0 0 0 0 0.385 50111 chr8 125115420 125115420 G A rs56132579 FER1L6 Nonsynonymous SNV R1720Q 0.114 0.122 0.092 40 134 47 0.103 27 7 5 1 2 33 50112 chr7 48315724 48315724 C T rs17092911 ABCA13 Nonsynonymous SNV S2154L 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 23.7 50113 chr7 48315898 48315898 T C rs17132198 ABCA13 Nonsynonymous SNV L2212S 0.014 0.026 0.014 6 17 10 0.015 4 0 1 0 0 0.004 50114 chr7 48316055 48316055 A G rs17132201 ABCA13 Synonymous SNV T2264T 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.003 50115 chr7 30831144 30831144 C T rs16875355 MINDY4 Synonymous SNV L343L 0.03 0.044 0.024 22 35 17 0.056 7 1 1 1 1 14.68 50116 chr7 48317836 48317836 G A rs111564118 ABCA13 Nonsynonymous SNV G2349R 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 3.184 50117 chr8 125989698 125989698 C T rs16900167 ZNF572 Synonymous SNV S396S 0.107 0.117 0.095 48 126 45 0.123 28 6 4 3 2 8.69 50118 chr7 92735188 92735188 G A rs111780648 SAMD9 Nonsynonymous SNV R75W 0.023 0.036 0.024 9 27 14 0.023 7 0 2 0 0 22.7 50119 chr20 2846896 2846896 C T rs141400236 VPS16 Synonymous SNV Y626Y 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 11.91 50120 chr7 48318098 48318098 A G rs17132206 ABCA13 Nonsynonymous SNV K2436R 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 10.81 50121 chr12 112280773 112280773 G T rs3213628 MAPKAPK5-AS1 0 0 0.16 0 0 0 0 47 0 0 3 0 1.088 50122 chr20 2969015 2969015 C G rs61742610 PTPRA Synonymous SNV S202S 0.009 0.005 0.017 1 10 2 0.003 5 0 0 0 0 14.37 50123 chr12 112338539 112338539 T C rs3742000 ADAM1A 0 0 0.19 0 0 0 0 56 0 0 4 0 2.751 50124 chr7 92826850 92826850 C A rs138500948 HEPACAM2 Nonsynonymous SNV L350F 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 23.5 50125 chr12 112338734 112338734 - A rs3832867 ADAM1A 0 0 0.17 0 0 0 0 50 0 0 3 0 50126 chr7 48318400 48318400 T G rs17132208 ABCA13 Nonsynonymous SNV S2537A 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.003 50127 chr12 112338985 112338985 - ACTT rs147114007 ADAM1A 0 0 0.112 0 0 0 0 33 0 0 0 0 50128 chr12 112339015 112339015 G A rs12321677 ADAM1A 0 0 0.17 0 0 0 0 50 0 0 3 0 2.378 50129 chr7 4829543 4829543 C T rs768113900 AP5Z1 Synonymous SNV Y440Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.968 50130 chr7 48319403 48319403 A C rs113190350 ABCA13 Nonsynonymous SNV K2871T 0.014 0.026 0.017 6 17 10 0.015 5 0 1 0 0 0.14 50131 chr7 48352698 48352698 A G rs112606040 ABCA13 Nonsynonymous SNV N3184S 0.016 0.029 0.017 6 19 11 0.015 5 0 1 0 0 0.001 50132 chr8 26223857 26223857 C T rs34109536 PPP2R2A Synonymous SNV L343L 0.06 0.052 0.082 28 71 20 0.072 24 2 0 0 2 12.31 50133 chr7 4839832 4839832 G A rs143487303 RADIL Synonymous SNV S984S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 10.1 50134 chr7 4839882 4839882 T C rs3816854 RADIL Nonsynonymous SNV T968A 0.055 0.049 0.065 20 64 19 0.051 19 2 0 1 2 0.053 50135 chr7 31692270 31692270 G A rs111514975 ITPRID1 Nonsynonymous SNV D988N 0.024 0.039 0.027 16 28 15 0.041 8 0 0 0 0 0.058 50136 chr8 12879198 12879198 A T rs34995506 TRMT9B Nonsynonymous SNV H211L 0.128 0.143 0.105 44 150 55 0.113 31 13 1 0 1 0.009 50137 chr7 94166974 94166974 C T rs35024967 CASD1 Nonsynonymous SNV T71I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.44 50138 chr7 4998636 4998636 G T rs540100872 MMD2 Synonymous SNV R5R 0.001 0 0.014 1 1 0 0.003 4 0 0 0 0 10.09 50139 chr8 124658214 124658214 C T rs11779866 KLHL38 Nonsynonymous SNV C504Y 0.152 0.159 0.146 56 178 61 0.144 43 13 1 2 1 26.9 50140 chr8 125463428 125463428 C T rs61752958 TRMT12 Nonsynonymous SNV T87M 0.016 0.026 0.01 6 19 10 0.015 3 0 0 0 0 13.09 50141 chr8 27634064 27634064 C T rs4732748 ESCO2 Nonsynonymous SNV A80V 0.128 0.104 0.116 45 150 40 0.115 34 6 3 2 6 Benign 1.389 50142 chr8 130774958 130774958 C T rs149293328 GSDMC Nonsynonymous SNV S197N 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 10.14 50143 chr8 125499363 125499363 G A rs72713066 RNF139 Synonymous SNV S491S 0.07 0.065 0.078 19 82 25 0.049 23 3 0 1 1 7.871 50144 chr8 125528135 125528135 G A rs11542673 TATDN1 Synonymous SNV C66C 0.072 0.065 0.068 19 85 25 0.049 20 3 0 1 1 9.606 50145 chr8 130864456 130864456 A G rs1051893 FAM49B Synonymous SNV T49T 0.081 0.091 0.058 24 95 35 0.062 17 4 1 0 1 9.434 50146 chr8 27679981 27679981 T C rs3779620 PBK Nonsynonymous SNV N107S 0.13 0.107 0.109 45 153 41 0.115 32 6 3 2 6 0.581 50147 chr7 49815474 49815474 C T rs73347631 VWC2 Nonsynonymous SNV P148L 0.03 0.031 0.031 6 35 12 0.015 9 2 0 0 0 33 50148 chr19 54933474 54933474 A G rs77561511 TTYH1 Synonymous SNV R176R 0.044 0.044 0.034 16 52 17 0.041 10 1 0 0 1 0.218 50149 chr8 126033096 126033096 T C rs6989548 SQLE Synonymous SNV P505P 0.04 0.042 0.031 17 47 16 0.044 9 2 0 0 1 7.107 50150 chr7 49815493 49815493 C G rs61390655 VWC2 Synonymous SNV G154G 0.03 0.031 0.031 6 35 12 0.015 9 2 0 0 0 10.87 50151 chr8 126034052 126034052 C T rs2293985 SQLE Synonymous SNV A530A 0.047 0.047 0.041 18 55 18 0.046 12 2 0 0 1 15.86 50152 chr7 98257722 98257722 G T rs142543231 NPTX2 Synonymous SNV V359V 0.008 0 0 3 9 0 0.008 0 0 0 0 0 1.656 50153 chr8 126091094 126091094 T C rs7812319 WASHC5 Synonymous SNV P51P 0.042 0.042 0.031 17 49 16 0.044 9 2 0 0 1 Benign 7.016 50154 chr19 54968038 54968038 A G rs35336528 LENG8 Nonsynonymous SNV I557V 0.038 0.036 0.054 16 45 14 0.041 16 1 0 0 1 13.09 50155 chr20 5843710 5843710 C T rs41282136 SHLD1 Synonymous SNV T73T 0.041 0.026 0.041 7 48 10 0.018 12 1 0 0 0 10.15 50156 chr7 99017019 99017019 C T rs375486823 BUD31 Synonymous SNV R130R 0.006 0 0 3 7 0 0.008 0 0 0 0 0 16.27 50157 chr7 99048404 99048404 G A rs35303224 CPSF4 Synonymous SNV S161S 0.037 0.018 0.041 17 43 7 0.044 12 0 0 0 0 Benign 10.99 50158 chr12 113532897 113532897 G A rs148384072 DTX1 Synonymous SNV T479T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 50159 chr7 50514904 50514904 C T rs62445870 FIGNL1 Nonsynonymous SNV G28R 0.047 0.044 0.034 14 55 17 0.036 10 5 0 0 0 11.08 50160 chr12 113727960 113727960 C T rs142922312 TPCN1 Synonymous SNV R540R 0.018 0.01 0.01 8 21 4 0.021 3 1 0 0 0 14.74 50161 chr8 28206275 28206275 G C rs1046511 ZNF395 Synonymous SNV A501A 0.319 0.32 0.316 116 374 123 0.297 93 64 24 17 20 10.51 50162 chr12 114397192 114397192 C T rs140397506 RBM19 Synonymous SNV E132E 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 13.19 50163 chr12 117160976 117160976 T C rs10507274 C12orf49 Nonsynonymous SNV Q55R 0.079 0.089 0.099 18 93 34 0.046 29 3 1 4 0 14.57 50164 chr8 128750540 128750540 A G rs4645959 MYC Nonsynonymous SNV N25S 0.018 0.029 0.048 7 21 11 0.018 14 0 0 0 0 24.3 50165 chr7 37780626 37780626 C T rs61729277 GPR141 Synonymous SNV L211L 0.017 0.029 0.027 8 20 11 0.021 8 0 0 0 0 10.31 50166 chr19 55501447 55501447 A G rs61735087 NLRP2 Synonymous SNV E786E 0.029 0.044 0.01 6 34 17 0.015 3 2 0 0 0 0.201 50167 chr7 37916455 37916455 A G rs62001868 NME8 Synonymous SNV R280R 0.058 0.052 0.061 24 68 20 0.062 18 1 0 1 1 Benign 0.062 50168 chr8 132999936 132999936 A G rs2270875 EFR3A Synonymous SNV V648V 0.083 0.07 0.122 46 97 27 0.118 36 4 3 3 3 0.207 50169 chr7 55238087 55238087 C T rs10258429 EGFR Synonymous SNV H656H 0.054 0.063 0.058 14 63 24 0.036 17 1 0 0 0 5.768 50170 chr12 118462757 118462757 G A rs764564255 RFC5 Nonsynonymous SNV G175S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 50171 chr7 55238147 55238147 G A rs17336988 EGFR Synonymous SNV P676P 0.032 0.021 0.031 11 38 8 0.028 9 0 0 0 0 1.884 50172 chr20 11900442 11900442 G A rs141676257 BTBD3 Nonsynonymous SNV R14H 0.006 0.005 0 0 7 2 0 0 0 0 0 0 18.85 50173 chr8 134478308 134478308 T C rs116342938 ST3GAL1 Nonsynonymous SNV N111S 0.014 0.013 0.02 4 16 5 0.01 6 0 0 0 0 0.002 50174 chr8 130774897 130774897 T C rs17190932 GSDMC Synonymous SNV R217R 0.193 0.172 0.207 63 226 66 0.162 61 19 2 6 5 0.004 50175 chr7 55229273 55229273 G A rs150477666 EGFR Nonsynonymous SNV R260Q 0.003 0 0 0 4 0 0 0 0 0 0 0 not provided 0.137 50176 chr8 131896879 131896879 G A rs149781974 ADCY8 Synonymous SNV G680G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.09 50177 chr7 42005587 42005587 G A rs79703713 GLI3 Synonymous SNV S1028S 0.032 0.042 0.017 9 37 16 0.023 5 0 0 0 0 Benign/Likely benign 0.531 50178 chr7 6075679 6075679 T C ANKRD61 Synonymous SNV L307L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.407 50179 chr7 42005588 42005588 C A rs79049330 GLI3 Nonsynonymous SNV S1028I 0.032 0.042 0.017 9 37 16 0.023 5 0 0 0 0 Benign/Likely benign 18.85 50180 chr12 120190054 120190054 - GA rs141931278 CIT 0.048 0.044 0.051 11 56 17 0.028 15 2 0 0 0 50181 chr8 131922027 131922027 T G rs12545028 ADCY8 Synonymous SNV R523R 0.146 0.138 0.088 62 171 53 0.159 26 15 2 0 5 2.891 50182 chr12 120569137 120569137 G A rs772762480 GCN1 Nonsynonymous SNV A2472V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.4 50183 chr20 14307019 14307019 T G rs36034779 FLRT3 Nonsynonymous SNV Q378H 0.008 0.008 0.014 0 9 3 0 4 1 0 0 0 23.7 50184 chr7 6193620 6193620 A G rs544070013 USP42 Nonsynonymous SNV D812G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 5.938 50185 chr7 6193621 6193621 C G rs763262511 USP42 Nonsynonymous SNV D812E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.015 50186 chr20 16359472 16359472 C T rs117138500 KIF16B Nonsynonymous SNV A1059T 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 23.5 50187 chr12 120650264 120650264 G A rs25664 PXN Synonymous SNV T557T 0.053 0.039 0.051 16 62 15 0.041 15 2 1 0 1 10.7 50188 chr8 141263015 141263015 G A rs11166965 TRAPPC9 Synonymous SNV G755G 0.112 0.109 0.112 30 131 42 0.077 33 5 3 2 1 Benign 7.759 50189 chr12 120941817 120941817 A C COQ5 Nonsynonymous SNV S280A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22 50190 chr8 103307434 103307434 G A rs34739767 UBR5 Synonymous SNV D1352D 0.03 0.039 0.024 20 35 15 0.051 7 0 0 0 1 9.583 50191 chr20 16730640 16730640 G A rs61752032 OTOR Synonymous SNV K116K 0.043 0.052 0.041 13 50 20 0.033 12 1 0 0 0 14.46 50192 chr12 121151093 121151093 C T rs11829037 UNC119B Synonymous SNV P87P 0.02 0.013 0.017 4 23 5 0.01 5 1 0 0 0 16.76 50193 chr19 55710059 55710059 C T rs368354556 PTPRH Nonsynonymous SNV E370K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 17.13 50194 chr8 38095662 38095662 C T rs2306899 DDHD2 Nonsynonymous SNV T186M 0.175 0.156 0.167 71 205 60 0.182 49 18 2 4 5 Benign 19.14 50195 chr12 121221518 121221518 C T rs60238091 SPPL3 Synonymous SNV P116P 0.016 0.005 0.014 4 19 2 0.01 4 0 0 0 0 18.04 50196 chr8 38126359 38126359 G C rs1149 PLPP5 Nonsynonymous SNV P75R 0.18 0.172 0.177 74 211 66 0.19 52 17 3 6 5 7.179 50197 chr12 121426738 121426738 C T HNF1A Synonymous SNV H143H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 50198 chr8 38695996 38695996 T C rs2292741 TACC1 Synonymous SNV T206T 0.112 0.125 0.143 38 132 48 0.097 42 8 1 2 1 9.778 50199 chr20 18295730 18295730 C T rs34099160 ZNF133 Nonsynonymous SNV L60F 0.097 0.096 0.112 32 114 37 0.082 33 5 4 2 1 0.103 50200 chr8 139701209 139701209 G T rs4909444 COL22A1 Nonsynonymous SNV A938D 0.37 0.383 0.296 150 434 147 0.385 87 75 30 10 35 10.82 50201 chr20 18296076 18296076 G A rs2228273 ZNF133 Nonsynonymous SNV G175E 0.097 0.096 0.112 33 114 37 0.085 33 5 4 2 1 0.001 50202 chr8 39141120 39141120 C A rs28705715 ADAM32 Nonsynonymous SNV D679E 0.014 0.005 0.003 8 16 2 0.021 1 0 0 0 0 9.826 50203 chr12 121476669 121476669 C T rs201238602 OASL Nonsynonymous SNV A36T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.679 50204 chr8 39468070 39468070 A C rs139114737 ADAM18 Nonsynonymous SNV I123L 0.018 0.018 0 7 21 7 0.018 0 0 0 0 0 6.866 50205 chr8 39695677 39695677 C A rs34800519 ADAM2 Nonsynonymous SNV G10W 0.018 0.018 0 8 21 7 0.021 0 0 0 0 0 26.6 50206 chr8 10465012 10465012 G A rs75797924 RP1L1 Nonsynonymous SNV P2199L 0.055 0.073 0.031 21 65 28 0.054 9 0 3 0 2 Benign 0.494 50207 chr8 39871135 39871135 C T rs2001923 IDO2 Synonymous SNV S270S 0.094 0.065 0.075 39 110 25 0.1 22 4 1 2 0 9.611 50208 chr8 142178108 142178108 A G DENND3 Nonsynonymous SNV N587D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.012 50209 chr8 39873053 39873053 G A rs72632016 IDO2 Nonsynonymous SNV A399T 0.094 0.065 0.075 39 110 25 0.1 22 4 1 2 0 8.169 50210 chr20 18506512 18506512 C T rs146917730 SEC23B Nonsynonymous SNV T257I 0.014 0.018 0.01 9 17 7 0.023 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 50211 chr20 18794714 18794714 C T rs1053834 SCP2D1 Synonymous SNV T85T 0.147 0.151 0.177 63 173 58 0.162 52 8 4 4 3 3.279 50212 chr20 18794754 18794754 C T rs1053839 SCP2D1 Nonsynonymous SNV P99S 0.148 0.154 0.19 68 174 59 0.174 56 8 5 4 5 0.035 50213 chr20 19193609 19193609 G T rs750675336 SLC24A3 Synonymous SNV S41S 0 0 0 0 0 0 0 0 0 0 0 0 17.18 50214 chr7 72992858 72992858 C G rs76029572 TBL2 Nonsynonymous SNV E8Q 0.067 0.07 0.075 22 79 27 0.056 22 3 2 1 3 9.196 50215 chr8 139642974 139642974 T C rs4131277 COL22A1 Synonymous SNV A1209A 0.066 0.083 0.105 19 78 32 0.049 31 6 1 1 0 6.571 50216 chr19 55998317 55998317 C A rs118182626 NAT14 Nonsynonymous SNV D205E 0.027 0.039 0.017 20 32 15 0.051 5 0 0 0 0 23.8 50217 chr8 42587065 42587065 C T rs4952 CHRNB3 Synonymous SNV N205N 0.115 0.107 0.082 43 135 41 0.11 24 8 3 1 2 9.32 50218 chr8 42587659 42587659 G C rs4953 CHRNB3 Synonymous SNV S403S 0.12 0.115 0.082 51 141 44 0.131 24 8 3 1 5 3.506 50219 chr7 45006425 45006425 C T rs373796173 MYO1G Nonsynonymous SNV V599I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.7 50220 chr8 10468964 10468964 G A rs148936402 RP1L1 Nonsynonymous SNV R882W 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 50221 chr8 49642357 49642357 G A rs61733121 EFCAB1 Synonymous SNV N79N 0.034 0.034 0.02 13 40 13 0.033 6 1 0 0 2 4.7 50222 chr12 122618103 122618103 T C rs773106076 MLXIP Nonsynonymous SNV M434T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.013 50223 chr8 105261725 105261725 G A rs2028945 RIMS2 Synonymous SNV Q136Q 0.05 0.044 0.065 21 59 17 0.054 19 1 0 2 1 10.34 50224 chr8 10623254 10623254 C A rs17855458 PINX1 Nonsynonymous SNV R215I 0.013 0.016 0.024 10 15 6 0.026 7 1 0 0 0 24.2 50225 chr12 122750686 122750686 C G rs2277333 VPS33A Nonsynonymous SNV G3R 0 0 0.075 0 0 0 0 22 0 0 3 0 3.626 50226 chr7 73731906 73731906 C T rs148561130 CLIP2 Synonymous SNV P10P 0.041 0.036 0.048 16 48 14 0.041 14 1 0 0 0 18.78 50227 chr7 73651743 73651743 T C rs3135688 RFC2 Synonymous SNV V160V 0.01 0.029 0.01 4 12 11 0.01 3 0 1 0 0 8.01 50228 chr7 73663362 73663362 T C rs1805395 RFC2 Synonymous SNV E3E 0.039 0.055 0.061 16 46 21 0.041 18 0 2 0 0 7.454 50229 chr8 110397806 110397806 C T rs201440356 PKHD1L1 Synonymous SNV V172V 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 15.59 50230 chr7 73791029 73791029 C T rs782655740 CLIP2 Synonymous SNV Y731Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 50231 chr8 144642815 144642815 C T rs11551200 GSDMD Synonymous SNV R151R 0.033 0.021 0.007 11 39 8 0.028 2 2 0 0 0 8.782 50232 chr20 23618488 23618488 G A rs1055084 CST3 Synonymous SNV P4P 0.043 0.044 0.027 16 50 17 0.041 8 5 2 0 0 0.709 50233 chr7 75634687 75634687 G A rs1044484 STYXL1 Synonymous SNV I67I 0.171 0.182 0.15 70 201 70 0.179 44 23 8 6 7 9.87 50234 chr7 76029673 76029673 G A rs79960636 SSC4D Synonymous SNV S135S 0.027 0.021 0.017 19 32 8 0.049 5 0 0 0 1 10.91 50235 chr8 62555454 62555454 C T rs148064193 ASPH Synonymous SNV E242E 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 13.65 50236 chr7 7645667 7645667 C T rs138085974 MIOS Synonymous SNV H728H 0.009 0.005 0.01 5 11 2 0.013 3 0 0 0 0 12.33 50237 chr8 62577838 62577838 T C rs145678786 ASPH Nonsynonymous SNV K202R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 6.984 50238 chr8 118834809 118834809 T G EXT1 Nonsynonymous SNV I438L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 21 50239 chr7 76891485 76891485 A G rs1109968 CCDC146 Nonsynonymous SNV N345S 0.054 0.096 0.068 31 63 37 0.079 20 3 2 1 2 11.26 50240 chr12 124821696 124821696 C T rs2229842 NCOR2 Synonymous SNV P1896P 0.08 0.081 0.085 22 94 31 0.056 25 7 0 1 0 14.04 50241 chr8 144689146 144689146 C T rs2242089 PYCR3 Nonsynonymous SNV V105M 0.176 0.156 0.139 67 207 60 0.172 41 12 2 2 7 25 50242 chr7 47917087 47917087 C T rs72601626 PKD1L1 Synonymous SNV P1221P 0.056 0.034 0.037 13 66 13 0.033 11 1 0 0 1 11.14 50243 chr8 120429024 120429024 G A rs2279112 CCN3 Nonsynonymous SNV R42Q 0.269 0.273 0.269 96 316 105 0.246 79 34 17 9 16 6.101 50244 chr12 124950824 124950824 C T rs534424316 NCOR2 Synonymous SNV L200L 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 12.8 50245 chr8 6371291 6371291 A G rs2916747 ANGPT2 Synonymous SNV Y317Y 0.072 0.063 0.068 9 84 24 0.023 20 4 0 0 0 Likely benign 0.035 50246 chr7 47924233 47924233 G A rs79566365 PKD1L1 Synonymous SNV D1076D 0.018 0.023 0.017 9 21 9 0.023 5 0 1 1 0 7.098 50247 chr8 120575184 120575184 G A rs1058913 ENPP2 Synonymous SNV F778F 0.221 0.232 0.221 68 259 89 0.174 65 26 10 5 7 13.45 50248 chr20 30381660 30381660 G A rs61754553 TPX2 Nonsynonymous SNV E507K 0.012 0.01 0.007 7 14 4 0.018 2 0 0 0 0 19.11 50249 chr7 47925485 47925485 T G rs113527998 PKD1L1 Nonsynonymous SNV T1002P 0.018 0.023 0.017 9 21 9 0.023 5 0 1 1 0 0.559 50250 chr7 47925535 47925535 G A rs76044743 PKD1L1 Nonsynonymous SNV T985I 0.017 0.023 0.014 9 20 9 0.023 4 0 1 1 0 Benign 2.57 50251 chr7 47925609 47925609 G A rs78480673 PKD1L1 Synonymous SNV L960L 0.018 0.023 0.017 9 21 9 0.023 5 0 1 1 0 4.373 50252 chr7 47927650 47927650 G A rs79105203 PKD1L1 Nonsynonymous SNV P925L 0.018 0.023 0.017 9 21 9 0.023 5 0 1 1 0 0.526 50253 chr12 125434716 125434716 G A rs4078216 DHX37 Synonymous SNV A1065A 0.201 0.188 0.204 71 236 72 0.182 60 32 6 6 6 8.892 50254 chr7 47930180 47930180 T C rs11972142 PKD1L1 Nonsynonymous SNV T879A 0.018 0.023 0.017 9 21 9 0.023 5 0 1 1 0 0.011 50255 chr8 65494020 65494020 - GCA rs34265378 BHLHE22 S234_K235insS 0.077 0.078 0.034 20 90 30 0.051 10 3 3 0 0 50256 chr8 6673397 6673397 T C rs761561839 XKR5 Nonsynonymous SNV D284G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 4.106 50257 chr7 47930277 47930277 A T rs11975405 PKD1L1 Synonymous SNV A846A 0.018 0.023 0.017 9 21 9 0.023 5 0 1 1 0 0.05 50258 chr8 6682698 6682698 T C XKR5 Nonsynonymous SNV D139G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 1.462 50259 chr7 47955049 47955049 A G rs146750610 PKD1L1 Nonsynonymous SNV L403P 0.016 0.023 0.014 9 19 9 0.023 4 0 1 0 0 Benign 2.448 50260 chr8 67341743 67341743 A G rs3739335 RRS1 Nonsynonymous SNV K126R 0.009 0.013 0.01 1 11 5 0.003 3 0 0 0 0 10.32 50261 chr8 144295183 144295183 G T rs11538389 GPIHBP1 Nonsynonymous SNV C14F 0.056 0.049 0.054 22 66 19 0.056 16 2 1 1 0 22.3 50262 chr12 125453115 125453115 C T rs11057939 DHX37 Nonsynonymous SNV R458Q 0.169 0.182 0.167 72 198 70 0.185 49 17 8 5 6 24.6 50263 chr8 67786633 67786633 C T rs79944926 MCMDC2 Nonsynonymous SNV A56V 0.076 0.099 0.095 40 89 38 0.103 28 5 2 2 3 23.2 50264 chr8 68346382 68346382 C T rs143321447 CPA6 Nonsynonymous SNV R311Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 50265 chr8 68396915 68396915 T C rs17343819 CPA6 Nonsynonymous SNV N249S 0.201 0.203 0.184 82 236 78 0.21 54 20 9 5 13 Benign 12.3 50266 chr7 84636183 84636183 G T rs117730916 SEMA3D Nonsynonymous SNV P615T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 27.1 50267 chr7 83764126 83764126 A G rs963271579 SEMA3A Nonsynonymous SNV I85T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 50268 chr8 144522272 144522272 C T rs764836333 ZC3H3 Synonymous SNV S918S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 10.35 50269 chr7 87004992 87004992 G A CROT Nonsynonymous SNV G234E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 31 50270 chr7 87021023 87021023 G C rs7785206 CROT Nonsynonymous SNV V474L 0.062 0.083 0.075 25 73 32 0.064 22 1 3 0 2 0.003 50271 chr19 56539284 56539284 G A rs34175666 NLRP5 Nonsynonymous SNV R562H 0.019 0.023 0.01 10 22 9 0.026 3 0 0 0 0 Likely benign 23.1 50272 chr7 8791124 8791124 C A rs775786757 NXPH1 Nonsynonymous SNV Q181K 0.003 0.01 0 0 4 4 0 0 0 1 0 0 26.5 50273 chr8 72111599 72111599 A G rs10103397 EYA1 Synonymous SNV H585H 0.376 0.378 0.303 143 442 145 0.367 89 98 22 11 30 Benign 0.079 50274 chr7 48315930 48315930 G C rs74859514 ABCA13 Nonsynonymous SNV A2223P 0.09 0.086 0.102 47 106 33 0.121 30 5 1 2 1 13.53 50275 chr8 72973909 72973909 C T rs35703015 TRPA1 Nonsynonymous SNV V299M 0.02 0.031 0.017 3 24 12 0.008 5 0 0 0 0 Benign 9.288 50276 chr12 130387850 130387850 T A rs142888394 TMEM132D Nonsynonymous SNV H12L 0.008 0.008 0.014 6 9 3 0.015 4 0 0 0 0 8.172 50277 chr7 88424192 88424192 A G rs149269214 TEX47 Nonsynonymous SNV F22S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 7.338 50278 chr7 88423881 88423881 T C rs2293583 TEX47 Nonsynonymous SNV I126V 0.1 0.078 0.105 41 117 30 0.105 31 3 1 2 0 0.001 50279 chr8 124664386 124664386 A G rs199956959 KLHL38 Nonsynonymous SNV S261P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.761 50280 chr12 130521184 130521184 G A rs611963 LINC02418 0 0 0.595 0 0 0 0 175 0 0 80 0 2.209 50281 chr12 130521207 130521207 C T rs622000 LINC02418 0 0 0.701 0 0 0 0 206 0 0 91 0 4.121 50282 chr19 56717604 56717604 G A rs201824207 ZSCAN5C Nonsynonymous SNV G108S 0.009 0.01 0 6 10 4 0.015 0 1 0 0 0 16.85 50283 chr12 13103266 13103266 G T rs3741822 GPRC5D Nonsynonymous SNV A18D 0.063 0.081 0.085 20 74 31 0.051 25 6 2 1 0 0.002 50284 chr19 56717607 56717607 G A rs200274779 ZSCAN5C Nonsynonymous SNV V109M 0.007 0.01 0 6 8 4 0.015 0 1 0 0 0 22.6 50285 chr20 31877713 31877713 A T rs61739245 BPIFB1 Nonsynonymous SNV I94F 0.02 0.036 0.017 5 23 14 0.013 5 0 0 0 1 23.9 50286 chr7 49842377 49842377 A C rs79731913 VWC2 Nonsynonymous SNV Q256P 0.072 0.063 0.065 33 85 24 0.085 19 6 0 0 0 23.3 50287 chr8 125072428 125072428 C T rs776926418 FER1L6 Nonsynonymous SNV P961L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.869 50288 chr8 144996165 144996165 C T rs377752228 PLEC Synonymous SNV A2594A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.862 50289 chr8 125580755 125580755 C T rs74633465 MTSS1 Synonymous SNV Q161Q 0.016 0.021 0.007 2 19 8 0.005 2 0 0 0 0 12.35 50290 chr20 33338114 33338114 G A rs61736332 NCOA6 Synonymous SNV I628I 0.017 0.013 0.027 8 20 5 0.021 8 0 0 0 0 Benign 7.157 50291 chr7 51093049 51093049 C T rs1129262 COBL Synonymous SNV E1175E 0.02 0.013 0.017 6 23 5 0.015 5 0 0 0 0 9.634 50292 chr12 132325376 132325376 C T rs34515698 MMP17 Synonymous SNV D227D 0.064 0.057 0.075 26 75 22 0.067 22 2 0 1 1 9.209 50293 chr12 132326266 132326266 G A rs141989989 MMP17 Synonymous SNV P268P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 10.39 50294 chr8 77765299 77765301 CCT - rs755670320 ZFHX4 P2061del 0.014 0.013 0 7 16 5 0.018 0 2 1 0 1 50295 chr20 33584197 33584197 C T rs61745051 MYH7B Nonsynonymous SNV R1040W 0.016 0.013 0.024 8 19 5 0.021 7 0 0 0 0 35 50296 chr8 80678494 80678500 GGCATGT - rs142613628 HEY1 Star tloss M1? 0.128 0.148 0.163 44 150 57 0.113 48 8 5 2 0 50297 chr20 34526799 34526799 G A rs149353721 PHF20 Synonymous SNV P827P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 3.446 50298 chr8 145057852 145057852 C T rs76806097 PARP10 Synonymous SNV E647E 0.049 0.052 0.024 28 57 20 0.072 7 3 1 0 0 6.444 50299 chr8 144810138 144810138 G A rs1137806 FAM83H Nonsynonymous SNV P498L 0.142 0.128 0.085 50 167 49 0.128 25 9 2 2 2 Benign 24 50300 chr8 8176554 8176554 C T rs12549973 PRAG1 Nonsynonymous SNV A1111T 0.218 0.237 0.228 86 256 91 0.221 67 25 8 10 7 14.9 50301 chr8 144810322 144810322 G A rs28573699 FAM83H Nonsynonymous SNV H437Y 0.087 0.07 0.051 43 102 27 0.11 15 6 1 0 4 4.948 50302 chr12 132852957 132852957 C A rs28561974 LOC100130238 0 0 0.446 0 0 0 0 131 0 0 28 0 4.833 50303 chr8 145058539 145058539 T C rs80304851 PARP10 Nonsynonymous SNV S519G 0.049 0.052 0.037 29 58 20 0.074 11 3 1 1 0 24.4 50304 chr7 91708521 91708521 A G rs150968594 AKAP9 Synonymous SNV K2358K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 5.793 50305 chr8 144997023 144997023 C T rs146381488 PLEC Synonymous SNV A2344A 0.016 0.021 0.01 7 19 8 0.018 3 0 0 0 0 Benign/Likely benign 13.14 50306 chr20 36759521 36759521 C T rs2235581 TGM2 Synonymous SNV L548L 0.022 0.005 0.02 8 26 2 0.021 6 0 0 0 0 4.069 50307 chr12 133196037 133196037 C T rs75585377 P2RX2 Nonsynonymous SNV R40C 0.014 0.018 0.014 7 17 7 0.018 4 0 0 0 0 Benign 18.38 50308 chr8 145086876 145086876 T C rs60050811 SPATC1 Nonsynonymous SNV S65P 0.055 0.052 0.041 30 64 20 0.077 12 2 1 1 0 0.002 50309 chr8 82607068 82607068 C G rs78323957 SLC10A5 Nonsynonymous SNV S47T 0.035 0.031 0.037 11 41 12 0.028 11 2 0 0 0 0.002 50310 chr12 133245032 133245032 A T rs5744799 POLE Nonsynonymous SNV F695I 0.014 0.018 0.014 7 17 7 0.018 4 0 0 0 0 Benign 23 50311 chr8 133108005 133108005 A G rs55906165 HHLA1 Synonymous SNV S103S 0.063 0.034 0.037 19 74 13 0.049 11 1 1 1 1 1.206 50312 chr8 82665477 82665480 GTGA - rs137960856 CHMP4C 0.074 0.073 0.071 24 87 28 0.062 21 6 3 1 0 50313 chr8 133111181 133111181 G A rs72715366 HHLA1 Synonymous SNV S76S 0.109 0.063 0.071 37 128 24 0.095 21 6 1 2 5 13.19 50314 chr12 133257837 133257837 C A rs34047482 POLE Nonsynonymous SNV A31S 0.009 0.01 0.017 3 10 4 0.008 5 0 0 0 0 Benign 11.47 50315 chr7 92132381 92132381 C T rs141510219 PEX1 Nonsynonymous SNV V677I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 4.266 50316 chr12 133319805 133319805 C T rs746049596 ANKLE2 Nonsynonymous SNV V430M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 50317 chr7 925717 925717 G A rs11543222 GET4 Synonymous SNV T60T 0.106 0.094 0.071 55 124 36 0.141 21 6 1 1 5 11.01 50318 chr8 86250493 86250493 C T CA1 Nonsynonymous SNV D75N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.68 50319 chr7 92731586 92731586 A G rs3802064 SAMD9 Synonymous SNV F1275F 0.014 0.029 0.024 6 16 11 0.015 7 0 0 0 0 0.002 50320 chr8 133880375 133880375 C T rs114543085 TG Nonsynonymous SNV A28V 0.011 0.008 0.003 1 13 3 0.003 1 0 0 0 0 24.1 50321 chr8 145164518 145164518 C A rs34324679 WDR97 Nonsynonymous SNV H427Q 0.093 0.065 0.095 38 109 25 0.097 28 5 1 2 1 14.48 50322 chr8 145009036 145009036 C T rs138924815 PLEC Nonsynonymous SNV R282Q 0.038 0.042 0.031 8 45 16 0.021 9 1 0 0 0 Benign 25.4 50323 chr12 13366504 13366504 G A rs34412222 EMP1 Nonsynonymous SNV S57N 0.072 0.099 0.061 30 85 38 0.077 18 5 4 1 1 0.004 50324 chr8 87235273 87235273 C T rs2976189 SLC7A13 Nonsynonymous SNV V249M 0.072 0.096 0.088 19 84 37 0.049 26 3 3 0 1 24 50325 chr7 92764419 92764419 A G rs2073793 SAMD9L Nonsynonymous SNV F289S 0.014 0.031 0.027 6 16 12 0.015 8 0 0 0 0 26.2 50326 chr7 55273186 55273186 C G EGFR Nonsynonymous SNV P903R 0 0.003 0 0 0 1 0 0 0 0 0 0 31 50327 chr12 133732636 133732636 G A rs3763150 ZNF10 Synonymous SNV K268K 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 10.32 50328 chr7 55273201 55273201 A T EGFR Nonsynonymous SNV D908V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 50329 chr8 87588198 87588198 T C rs3735972 CNGB3 Nonsynonymous SNV E755G 0.067 0.063 0.027 18 79 24 0.046 8 1 1 0 0 Benign 9.085 50330 chr7 92875431 92875431 A G rs2214098 VPS50 Star tloss M1? 0.017 0.031 0.02 6 20 12 0.015 6 1 0 0 0 3.379 50331 chr19 57868483 57868483 G A rs45612632 ZNF304 Nonsynonymous SNV A416T 0.023 0.029 0.034 22 27 11 0.056 10 1 0 1 1 27.6 50332 chr8 87588248 87588248 T C rs3735970 CNGB3 Synonymous SNV E738E 0.066 0.063 0.027 18 78 24 0.046 8 1 1 0 0 Benign 0.798 50333 chr20 40049450 40049450 T A rs140143834 CHD6 Nonsynonymous SNV H1942L 0.031 0.021 0.024 18 36 8 0.046 7 0 1 0 0 16.22 50334 chr8 145542375 145542375 T C rs55907012 DGAT1 Nonsynonymous SNV K152R 0.049 0.055 0.02 21 57 21 0.054 6 2 2 0 0 Likely benign 11.4 50335 chr7 931960 931960 G A rs11543218 GET4 Synonymous SNV T217T 0.037 0.052 0.041 24 44 20 0.062 12 0 0 0 0 13.41 50336 chr7 56087292 56087292 C - rs139106189 PSPH 0.055 0.055 0.078 17 64 21 0.044 23 0 0 0 0 50337 chr7 56087300 56087300 C T rs75395437 PSPH Nonsynonymous SNV G90S 0.066 0.06 0.099 20 77 23 0.051 29 0 0 0 0 27.1 50338 chr7 56087319 56087319 T G rs73343757 PSPH Nonsynonymous SNV Q83H 0.103 0.091 0.112 31 121 35 0.079 33 0 0 0 0 Likely benign 0.001 50339 chr7 97852443 97852443 C T rs61745947 TECPR1 Synonymous SNV V929V 0.028 0.029 0.024 10 33 11 0.026 7 0 0 0 0 14.02 50340 chr7 97854393 97854393 G A rs2291745 TECPR1 Synonymous SNV Y845Y 0.177 0.156 0.153 63 208 60 0.162 45 16 7 2 4 5.842 50341 chr7 56087364 56087364 G T rs201644817 PSPH Synonymous SNV L68L 0.158 0.161 0.119 56 186 62 0.144 35 0 0 0 0 Benign 2.095 50342 chr8 91090617 91090617 T C CALB1 Nonsynonymous SNV K72R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.35 50343 chr7 56087365 56087365 A G rs78067484 PSPH Nonsynonymous SNV L68P 0.158 0.161 0.119 57 186 62 0.146 35 0 0 0 0 Benign 23 50344 chr8 13425098 13425098 C T C8orf48 Nonsynonymous SNV P200S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 50345 chr12 14591099 14591099 G A rs61754406 ATF7IP Synonymous SNV A608A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.989 50346 chr7 56087374 56087374 C T rs200442078 PSPH Nonsynonymous SNV R65H 0.166 0.164 0.119 57 195 63 0.146 35 0 0 0 0 Benign 28.5 50347 chr7 95709784 95709784 T C DYNC1I1 Nonsynonymous SNV V567A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.8 50348 chr7 56087379 56087379 T C rs201935398 PSPH Synonymous SNV T63T 0.168 0.169 0.119 58 197 65 0.149 35 0 0 0 0 Benign 0.009 50349 chr7 966260 966260 G A rs142995759 ADAP1 Synonymous SNV N6N 0.01 0.008 0.007 4 12 3 0.01 2 0 0 0 0 34 50350 chr19 58084439 58084439 G T ZNF416 Nonsynonymous SNV S206Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 50351 chr7 56087399 56087399 G A rs79321413 PSPH Nonsynonymous SNV P57S 0.173 0.169 0.122 59 203 65 0.151 36 0 0 0 0 Benign 12.71 50352 chr7 99096438 99096438 C T ZNF394 Nonsynonymous SNV V162M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.718 50353 chr8 145640735 145640735 G A rs565516931 SLC39A4 Synonymous SNV G156G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 10.51 50354 chr7 56087409 56087409 G A rs74874687 PSPH Synonymous SNV G53G 0.171 0.172 0.122 61 201 66 0.156 36 0 0 0 0 Benign 12.68 50355 chr12 1481038 1481038 C T rs35478691 ERC1 Synonymous SNV A940A 0.032 0.036 0.037 16 37 14 0.041 11 0 0 0 0 14.3 50356 chr7 56087423 56087423 G A rs79451216 PSPH Nonsynonymous SNV R49W 0.17 0.161 0.112 61 199 62 0.156 33 0 0 0 0 Benign 24.6 50357 chr7 56088786 56088786 A T rs202027697 PSPH Synonymous SNV V40V 0.17 0.164 0.034 56 200 63 0.144 10 0 0 0 0 Benign 0.006 50358 chr7 99704448 99704448 C T rs4134932 AP4M1 Synonymous SNV N442N 0.023 0.031 0.017 11 27 12 0.028 5 1 0 0 0 Benign 13.16 50359 chr7 56088789 56088789 G A rs199851385 PSPH Synonymous SNV G39G 0.171 0.164 0.034 58 201 63 0.149 10 0 0 0 0 Benign 7.139 50360 chr7 56088811 56088811 T C rs78599516 PSPH Nonsynonymous SNV D32G 0.123 0.115 0.024 44 144 44 0.113 7 0 0 0 0 Benign/Likely benign 23.1 50361 chr7 97937201 97937201 G A rs11540936 BAIAP2L1 Synonymous SNV S321S 0.018 0.013 0.027 10 21 5 0.026 8 0 0 0 0 9.477 50362 chr7 56088825 56088825 T A rs74445297 PSPH Nonsynonymous SNV R27S 0.128 0.117 0.041 44 150 45 0.113 12 0 0 0 0 Benign 6.266 50363 chr7 56088902 56088902 C T rs77329757 PSPH Nonsynonymous SNV V2I 0.141 0.148 0.065 52 165 57 0.133 19 0 0 0 0 13.16 50364 chr8 139606427 139606427 A T rs72727814 COL22A1 Nonsynonymous SNV L1483H 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 22 50365 chr7 99022873 99022873 C T rs147045279 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV A428T 0.013 0.013 0.003 1 15 5 0.003 1 0 0 0 0 5.67 50366 chr8 95538708 95538708 G A rs7835534 VIRMA Synonymous SNV H588H 0.073 0.06 0.058 27 86 23 0.069 17 3 1 1 0 2.302 50367 chr7 99489868 99489868 G C rs33998596 TRIM4 Nonsynonymous SNV S448C 0.078 0.094 0.085 35 92 36 0.09 25 5 3 0 1 18.62 50368 chr7 99490190 99490190 G A rs35432946 TRIM4 Nonsynonymous SNV P341S 0.078 0.094 0.085 35 92 36 0.09 25 5 3 0 1 26 50369 chr8 145737353 145737353 C T rs753620447 RECQL4 Nonsynonymous SNV E1112K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 9.702 50370 chr8 145002096 145002096 C T rs782316766 PLEC Nonsynonymous SNV E1095K 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Uncertain significance 25 50371 chr12 15834192 15834192 T C rs71532816 EPS8 Nonsynonymous SNV H35R 0.003 0.003 0.014 4 4 1 0.01 4 0 0 0 0 Benign/Likely benign 11.75 50372 chr8 100733188 100733188 A G rs61753724 VPS13B Synonymous SNV V2346V 0.024 0.029 0.02 12 28 11 0.031 6 0 1 0 1 Benign 9.614 50373 chr8 100791156 100791156 T C rs7833870 VPS13B Nonsynonymous SNV V2584A 0.025 0.029 0.02 12 29 11 0.031 6 0 0 0 1 Benign 0.001 50374 chr19 58846243 58846243 G A rs147469293 ZSCAN22 Synonymous SNV E25E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.377 50375 chr8 101076166 101076180 TCTTCTTCTTCTCCT - rs538962849 RGS22 G92_E96del 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 50376 chr7 99691013 99691017 TCTCA - MCM7 L443Hfs*12 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 50377 chr20 44036865 44036865 C T rs11541733 DBNDD2 Synonymous SNV L22L 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 13.57 50378 chr7 99755343 99755343 C T rs117793118 MAP11 Nonsynonymous SNV V184I 0.007 0.01 0.003 6 8 4 0.015 1 0 0 0 0 22.9 50379 chr8 98943545 98943545 A G rs2290471 MATN2 Synonymous SNV T169T 0.299 0.271 0.276 125 351 104 0.321 81 45 11 11 16 0.002 50380 chr8 98943598 98943598 C T rs2290472 MATN2 Nonsynonymous SNV T187M 0.16 0.169 0.146 60 188 65 0.154 43 14 3 3 7 31 50381 chr7 99998720 99998720 C T rs202051814 ZCWPW1 Nonsynonymous SNV G622R 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 22 50382 chr8 145689667 145689667 C G rs142152732 CYHR1 Nonsynonymous SNV W141S 0.046 0.031 0.031 15 54 12 0.038 9 1 0 0 1 11.14 50383 chr12 1940513 1940513 C T rs778334335 LRTM2 Synonymous SNV F160F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.021 50384 chr8 99030320 99030320 G A rs35120814 MATN2 Nonsynonymous SNV A558T 0.047 0.044 0.02 22 55 17 0.056 6 1 0 0 0 7.405 50385 chr8 145738644 145738644 C T rs571684398 RECQL4 Nonsynonymous SNV R807H 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Uncertain significance 34 50386 chr8 145154713 145154713 T C rs759264930 SHARPIN Synonymous SNV A184A 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 2.736 50387 chr19 58982447 58982447 A G rs61742224 ZNF324 Synonymous SNV K196K 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 0.037 50388 chr8 17097254 17097254 G A rs182748872 CNOT7 Stop gain R120X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.639 50389 chr7 64452698 64452698 T C rs71539632 ERV3-1 Nonsynonymous SNV Y236C 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 14.39 50390 chr19 59060581 59060581 C T rs761187415 TRIM28 Nonsynonymous SNV P546S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.839 50391 chr19 59067585 59067585 G A rs8105097 UBE2M Synonymous SNV P141P 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 10.87 50392 chr8 103663390 103663390 C T rs149887425 KLF10 Synonymous SNV T379T 0.023 0.023 0.024 13 27 9 0.033 7 0 0 0 0 12.96 50393 chr9 100139101 100139101 T G rs142332421 CCDC180 Synonymous SNV S1677S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 2.105 50394 chr8 10383231 10383231 C G rs79049699 PRSS55 Nonsynonymous SNV P46A 0.057 0.094 0.037 21 67 36 0.054 11 1 0 1 0 0.002 50395 chr8 17512155 17512155 C T rs61999336 MTUS1 Synonymous SNV A115A 0.014 0.008 0.003 5 17 3 0.013 1 0 0 0 0 21.3 50396 chr8 146062872 146062872 C T rs138582829 ZNF7 Nonsynonymous SNV A97V 0.046 0.031 0.027 12 54 12 0.031 8 0 0 1 1 12.05 50397 chr8 10388826 10388826 G A rs4841367 PRSS55 Synonymous SNV V123V 0.055 0.055 0.051 25 65 21 0.064 15 2 3 1 2 6.813 50398 chr8 10396056 10396056 G C rs61743179 PRSS55 Nonsynonymous SNV S271T 0.055 0.055 0.051 25 64 21 0.064 15 2 3 1 2 26.4 50399 chr9 100364993 100364993 A C TSTD2 Nonsynonymous SNV C437G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.9 50400 chr8 146067503 146067503 T C rs374571392 ZNF7 Synonymous SNV R241R 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 0.003 50401 chr9 100418331 100418331 C T rs77602722 NCBP1 Nonsynonymous SNV P76L 0.027 0.023 0.01 9 32 9 0.023 3 0 0 0 0 25.3 50402 chr8 17924739 17924739 A T rs2472205 ASAH1 Nonsynonymous SNV D118E 0.02 0.026 0.048 9 24 10 0.023 14 2 2 0 0 Benign/Likely benign 12.4 50403 chr8 146157725 146157735 CCCCTAAGGGG - rs757384752 ZNF16 P147Efs*6 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 50404 chr8 104417045 104417045 C T rs17803441 SLC25A32 Nonsynonymous SNV R117H 0.048 0.055 0.048 9 56 21 0.023 14 1 1 0 0 24.1 50405 chr8 104432545 104432545 A G rs3134253 DCAF13 Nonsynonymous SNV I42V 0.199 0.18 0.18 75 234 69 0.192 53 20 8 4 5 3.595 50406 chr7 70597884 70597884 G A rs61741535 GALNT17 Synonymous SNV A32A 0.083 0.102 0.068 45 97 39 0.115 20 6 2 0 2 18.04 50407 chr8 145622516 145622516 C T rs782471379 CPSF1 Nonsynonymous SNV R833H 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 50408 chr8 104432631 104432631 T C rs3098238 DCAF13 Synonymous SNV N70N 0.048 0.055 0.048 9 56 21 0.023 14 1 1 0 0 5.24 50409 chr8 145638299 145638299 C G rs143778004 SLC39A4 Synonymous SNV L55L 0.01 0.005 0.003 4 12 2 0.01 1 0 0 0 0 Benign 10.67 50410 chr7 72992867 72992867 G C rs145427595 TBL2 Nonsynonymous SNV Q5E 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 0.001 50411 chr12 250090 250090 T - rs11355066 LOC574538 0 0 0.514 0 0 0 0 151 0 0 47 0 50412 chr20 45131665 45131665 T C rs111517766 ZNF334 Nonsynonymous SNV N67D 0.027 0.018 0.027 16 32 7 0.041 8 1 0 0 0 7.69 50413 chr9 100823135 100823135 G C rs1058446 NANS Nonsynonymous SNV E68D 0.217 0.203 0.197 81 255 78 0.208 58 36 10 7 10 16.15 50414 chr7 73011076 73011076 G T rs199616981 MLXIPL Nonsynonymous SNV T572N 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign 0.868 50415 chr9 100991430 100991430 C A rs1573025 TBC1D2 Nonsynonymous SNV G261V 0.175 0.138 0.177 75 205 53 0.192 52 27 2 5 4 10.94 50416 chr20 45816733 45816733 C T rs41282800 EYA2 Synonymous SNV H444H 0.057 0.047 0.031 35 67 18 0.09 9 0 0 0 0 15.13 50417 chr20 744570 744570 G A rs6054605 SLC52A3 Synonymous SNV P215P 0.112 0.104 0.071 38 131 40 0.097 21 13 5 1 4 Benign 6.055 50418 chr8 10466004 10466024 CTGGGCCTCCCCTTCAGCCTC - rs535482422 RP1L1 E1862_Q1868del 0.078 0.115 0.082 37 91 44 0.095 24 3 1 1 1 50419 chr20 45867852 45867852 A G rs2275801 ZMYND8 Nonsynonymous SNV V700A 0.112 0.073 0.092 64 131 28 0.164 27 8 1 1 5 0.691 50420 chr9 101056122 101056122 T C rs10985765 GABBR2 Nonsynonymous SNV T869A 0.183 0.141 0.18 72 215 54 0.185 53 33 2 5 6 8.922 50421 chr8 18729496 18729496 G A rs13263453 PSD3 Nonsynonymous SNV P260L 0.109 0.122 0.112 31 128 47 0.079 33 5 3 2 0 0.197 50422 chr8 17612562 17612562 T A rs201091356 MTUS1 Nonsynonymous SNV Q252L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 25.5 50423 chr20 47847587 47847587 C T rs6012624 DDX27 Synonymous SNV H384H 0.083 0.078 0 36 98 30 0.092 0 5 1 0 3 5.634 50424 chr8 19218745 19218745 A G rs35647122 SH2D4A Nonsynonymous SNV E164G 0.014 0.021 0.037 16 16 8 0.041 11 1 0 0 0 21.4 50425 chr12 27089540 27089540 A G rs2306852 INTS13 Nonsynonymous SNV M66T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.9 50426 chr8 145697617 145697617 G A rs760288123 KIFC2 Nonsynonymous SNV V528M 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 28.7 50427 chr7 73474515 73474515 G A rs782279081 ELN 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 25.1 50428 chr20 47864872 47864872 C G rs149436860 ZNFX1 Synonymous SNV R1563R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.497 50429 chr9 104079706 104079706 T C rs16920154 PLPPR1 Synonymous SNV P291P 0.011 0.008 0.017 1 13 3 0.003 5 0 0 0 0 6.063 50430 chr8 19809435 19809435 G A rs1121923 LPL Synonymous SNV V135V 0.054 0.044 0.065 21 63 17 0.054 19 2 0 2 0 Benign 9.406 50431 chr8 19810826 19810826 G A rs248 LPL Synonymous SNV E145E 0.051 0.065 0.054 12 60 25 0.031 16 1 1 0 0 Benign/Likely benign 10.73 50432 chr8 18080116 18080116 G A rs4986782 NAT1 Nonsynonymous SNV R187Q 0.016 0.021 0.003 4 19 8 0.01 1 0 0 0 0 21.3 50433 chr9 104302625 104302625 A G rs16920477 RNF20 Synonymous SNV L90L 0.041 0.031 0.037 9 48 12 0.023 11 1 0 1 0 4.693 50434 chr8 1808256 1808256 A G rs749822 ARHGEF10 Synonymous SNV V129V 0.075 0.076 0.034 24 88 29 0.062 10 3 3 0 1 Benign 6.289 50435 chr9 104309445 104309445 T C rs2273976 RNF20 Synonymous SNV Y307Y 0.175 0.177 0.211 73 206 68 0.187 62 19 7 2 5 1.802 50436 chr8 105361584 105361584 G A rs774821780 DCSTAMP Synonymous SNV P268P 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 9.144 50437 chr8 10470148 10470148 G A rs74400517 RP1L1 Nonsynonymous SNV A487V 0.074 0.107 0.088 34 87 41 0.087 26 3 1 2 1 Benign 8.8 50438 chr8 18258370 18258370 G A rs1799931 NAT2 Nonsynonymous SNV G286E 0.041 0.034 0.027 14 48 13 0.036 8 0 0 0 1 drug response 0.002 50439 chr12 27915944 27915944 A G rs11049124 MANSC4 Synonymous SNV P250P 0.144 0.104 0.129 50 169 40 0.128 38 11 1 2 4 0.017 50440 chr8 110283256 110283256 T C rs11550169 NUDCD1 Nonsynonymous SNV N397S 0.112 0.12 0.078 35 131 46 0.09 23 4 4 2 0 0.001 50441 chr12 27916206 27916206 G A rs11049125 MANSC4 Nonsynonymous SNV T163M 0.143 0.104 0.129 50 168 40 0.128 38 10 1 2 4 0.148 50442 chr9 104433347 104433347 G A rs13284303 GRIN3A Synonymous SNV I449I 0.187 0.185 0.173 63 219 71 0.162 51 24 4 7 6 8.465 50443 chr8 110283353 110283353 T G rs34660136 NUDCD1 Nonsynonymous SNV N365H 0.098 0.107 0.088 31 115 41 0.079 26 4 4 2 0 20.3 50444 chr12 27916224 27916224 A G rs11049126 MANSC4 Nonsynonymous SNV L157S 0.143 0.104 0.129 50 168 40 0.128 38 10 1 2 4 12.55 50445 chr9 104449294 104449294 G A rs33945236 GRIN3A Synonymous SNV N296N 0.187 0.182 0.173 63 219 70 0.162 51 24 4 7 6 2.26 50446 chr20 49214188 49214188 C T rs35976890 RIPOR3 Synonymous SNV E573E 0.064 0.089 0.051 26 75 34 0.067 15 6 0 0 3 14.63 50447 chr8 2050519 2050519 C T rs2294071 MYOM2 Synonymous SNV G894G 0.092 0.086 0.105 39 108 33 0.1 31 10 1 2 3 11.81 50448 chr8 110397780 110397780 A G rs62508075 PKHD1L1 Nonsynonymous SNV I164V 0.035 0.036 0.02 7 41 14 0.018 6 0 0 0 0 10.77 50449 chr8 1616640 1616640 G A rs4565482 DLGAP2 Synonymous SNV P652P 0.195 0.182 0.184 77 229 70 0.197 54 26 6 5 7 6.799 50450 chr8 19363029 19363029 A G rs34799877 CSGALNACT1 Nonsynonymous SNV L106P 0.012 0.013 0.01 1 14 5 0.003 3 0 0 0 0 Benign 0.321 50451 chr8 195254 195254 C A rs2074718 ZNF596 Nonsynonymous SNV T136K 0.069 0.073 0.061 29 81 28 0.074 18 2 2 1 1 14.12 50452 chr8 1626460 1626460 - CAC rs200151488 DLGAP2 T792_E793insT 0.048 0.036 0.065 20 56 14 0.051 19 2 0 1 3 50453 chr8 144808572 144808572 C T rs117987215 FAM83H Nonsynonymous SNV R1020Q 0.014 0.013 0 3 16 5 0.008 0 0 0 0 0 Benign 11.23 50454 chr8 1626527 1626527 C A rs200249004 DLGAP2 Synonymous SNV P812P 0.009 0 0.014 1 10 0 0.003 4 0 0 0 0 14.03 50455 chr8 21904126 21904126 G A rs3176295 FGF17 Synonymous SNV R102R 0.028 0.042 0.017 12 33 16 0.031 5 0 0 0 1 10.71 50456 chr12 2974550 2974550 A C rs761695860 FOXM1 Nonsynonymous SNV S331A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 50457 chr12 30948848 30948848 G C rs256653 LINC00941 0 0 0.537 0 0 0 0 158 0 0 42 0 7.108 50458 chr9 107571825 107571825 G A rs199668464 ABCA1 Nonsynonymous SNV T1399M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 11.4 50459 chr20 52612549 52612549 C T rs6022903 BCAS1 Nonsynonymous SNV G255E 0.082 0.068 0.058 19 96 26 0.049 17 9 0 2 0 0.002 50460 chr20 3090942 3090942 A G rs34205880 UBOX5 Nonsynonymous SNV L425P 0.087 0.096 0.061 37 102 37 0.095 18 4 3 0 1 9.578 50461 chr8 144890953 144890953 A G rs111919660 SCRIB Synonymous SNV N647N 0.009 0.013 0 3 10 5 0.008 0 0 0 0 0 Benign 0.292 50462 chr8 110534512 110534512 G A rs1563578 PKHD1L1 Synonymous SNV S4043S 0.095 0.107 0.105 36 111 41 0.092 31 3 2 1 1 12.21 50463 chr20 3090969 3090969 T C rs45482595 UBOX5-AS1 0.087 0.096 0.058 37 102 37 0.095 17 4 3 0 1 5.692 50464 chr8 17611916 17611916 C T rs61740538 MTUS1 Synonymous SNV S467S 0.022 0.026 0.014 12 26 10 0.031 4 0 0 0 0 9.513 50465 chr8 110539186 110539186 G A rs1783174 PKHD1L1 Nonsynonymous SNV V4220I 0.095 0.107 0.109 36 111 41 0.092 32 3 2 1 1 0.003 50466 chr20 3127659 3127659 G C rs118118489 FASTKD5 Synonymous SNV P686P 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 0.04 50467 chr8 21767240 21767240 G A rs34215892 DOK2 Nonsynonymous SNV P120L 0.029 0.042 0.031 5 34 16 0.013 9 0 0 0 0 23.5 50468 chr8 17612043 17612043 G A rs61733694 MTUS1 Nonsynonymous SNV T425M 0.057 0.036 0.037 22 67 14 0.056 11 1 0 0 0 0.001 50469 chr20 3128578 3128578 A C rs41304800 FASTKD5 Nonsynonymous SNV I380R 0.11 0.13 0.095 44 129 50 0.113 28 9 3 0 1 23.2 50470 chr8 110588176 110588176 C T rs33970535 SYBU Synonymous SNV E187E 0.019 0.023 0.017 0 22 9 0 5 0 0 0 0 9.095 50471 chr8 22398155 22398155 A G rs117993834 PPP3CC Nonsynonymous SNV K450R 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 15.86 50472 chr9 111617650 111617650 G A rs11543179 ACTL7B Synonymous SNV Y187Y 0.265 0.232 0.235 94 311 89 0.241 69 51 12 4 11 0.214 50473 chr20 3128930 3128930 T G rs1035069858 FASTKD5 Nonsynonymous SNV N263H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.113 50474 chr8 21847855 21847855 G C rs56062629 XPO7 Synonymous SNV G601G 0.122 0.143 0.133 53 143 55 0.136 39 8 2 3 2 10.8 50475 chr8 110657533 110657533 C T rs138417985 LOC100132813 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 10.35 50476 chr9 111618163 111618163 G A rs3750468 ACTL7B Synonymous SNV D16D 0.263 0.229 0.207 96 309 88 0.246 61 50 12 4 11 0.101 50477 chr7 80427495 80427495 C A rs1880959 SEMA3C Synonymous SNV V366V 0.056 0.073 0.078 26 66 28 0.067 23 2 3 1 0 20.3 50478 chr12 32137881 32137881 C T rs142858754 RESF1 Nonsynonymous SNV S1331L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 5.567 50479 chr9 111618209 111618209 A G rs17728850 ACTL7B Star tloss M1? 0.092 0.133 0.058 35 108 51 0.09 17 3 3 0 1 22.1 50480 chr8 22436681 22436681 C T rs11545016 PDLIM2 Nonsynonymous SNV P130L 0.135 0.172 0.071 41 159 66 0.105 21 27 13 4 7 0.078 50481 chr20 55101085 55101085 G A rs111909024 FAM209A Nonsynonymous SNV V159I 0.039 0.029 0.041 16 46 11 0.041 12 2 0 0 0 0.001 50482 chr9 112225695 112225695 G A rs949617108 PTPN3 Nonsynonymous SNV A7V 0.004 0.01 0 0 5 4 0 0 0 0 0 0 25.6 50483 chr8 11614575 11614575 A G rs3729856 GATA4 Nonsynonymous SNV S378G 0.125 0.143 0.143 51 147 55 0.131 42 12 3 5 5 Benign 9.418 50484 chr7 82582546 82582546 A G rs201752711 PCLO Nonsynonymous SNV S2575P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 14.98 50485 chr8 11666337 11666337 A G rs4731 FDFT1 Nonsynonymous SNV K104R 0.08 0.096 0.082 29 94 37 0.074 24 5 2 1 1 8.324 50486 chr8 22785159 22785159 G A rs2175192 PEBP4 Synonymous SNV D23D 0.198 0.206 0.235 75 232 79 0.192 69 18 6 11 9 1.253 50487 chr8 22064960 22064960 C T rs202166852 BMP1 Nonsynonymous SNV R836C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 35 50488 chr9 113209195 113209195 T G rs1889323 SVEP1 Nonsynonymous SNV K1416Q 0.157 0.172 0.143 73 184 66 0.187 42 8 1 2 10 17.1 50489 chr9 113212454 113212454 A T rs10817021 SVEP1 Nonsynonymous SNV L1330M 0.155 0.172 0.133 73 182 66 0.187 39 8 1 2 10 8.888 50490 chr8 144993249 144993249 G A rs201867859 PLEC Synonymous SNV H3566H 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.097 50491 chr7 83631273 83631273 G A rs137871935 SEMA3A Nonsynonymous SNV R484W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 34 50492 chr8 120793296 120793296 C T rs7002501 TAF2 Synonymous SNV Q750Q 0.259 0.245 0.235 114 304 94 0.292 69 38 9 15 11 13.7 50493 chr8 22428708 22428708 A G rs1047030 SORBS3 Nonsynonymous SNV T231A 0.173 0.154 0.177 57 203 59 0.146 52 18 5 8 4 0.006 50494 chr9 113637839 113637839 G A rs61753623 LPAR1 Synonymous SNV S319S 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 10.92 50495 chr12 41582619 41582619 G A rs74955204 PDZRN4 Nonsynonymous SNV G121E 0.019 0.021 0.017 9 22 8 0.023 5 0 0 0 0 1.309 50496 chr20 3730492 3730492 A C rs151101921 HSPA12B Nonsynonymous SNV K259Q 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 50497 chr8 120803654 120803654 C T rs11996390 TAF2 Synonymous SNV L441L 0.256 0.237 0.252 114 300 91 0.292 74 33 9 13 10 13.34 50498 chr7 87471014 87471014 T C rs200485109 SLC25A40 Nonsynonymous SNV T253A 0 0.003 0 0 0 1 0 0 0 0 0 0 26 50499 chr20 3802913 3802913 G A rs151265745 AP5S1 Nonsynonymous SNV R50Q 0.005 0.016 0 4 6 6 0.01 0 0 0 0 0 25.4 50500 chr8 120844782 120844782 G A rs17818842 TAF2 Nonsynonymous SNV P8L 0.221 0.208 0.197 95 259 80 0.244 58 24 6 10 6 23 50501 chr8 22526559 22526559 G A rs11550509 BIN3 Synonymous SNV S2S 0.277 0.263 0.221 97 325 101 0.249 65 40 13 5 13 18.6 50502 chr8 144998868 144998868 C T rs140406501 PLEC Synonymous SNV A1729A 0.026 0.039 0.014 8 30 15 0.021 4 1 1 0 0 Benign/Likely benign 9.656 50503 chr8 23225745 23225745 C T rs2294133 LOXL2 Synonymous SNV P40P 0.046 0.044 0.061 27 54 17 0.069 18 2 0 0 2 15.57 50504 chr8 120569877 120569877 T G rs2305129 ENPP2 Synonymous SNV R826R 0.058 0.044 0.068 31 68 17 0.079 20 1 0 0 1 7.197 50505 chr20 4229514 4229514 T C rs184418609 ADRA1D Nonsynonymous SNV S31G 0.072 0.07 0.082 25 84 27 0.064 24 28 9 8 7 0.001 50506 chr8 1877480 1877480 T G rs17683288 ARHGEF10 Nonsynonymous SNV S946A 0.09 0.112 0.099 41 106 43 0.105 29 6 3 1 3 11.79 50507 chr8 121256150 121256150 T C rs2305603 COL14A1 Synonymous SNV L794L 0.059 0.039 0.071 26 69 15 0.067 21 1 0 0 2 0.411 50508 chr8 121259862 121259862 G A rs2305605 COL14A1 Synonymous SNV S830S 0.06 0.039 0.071 26 70 15 0.067 21 1 0 0 2 3.019 50509 chr20 4705542 4705542 G A rs145306018 PRND Synonymous SNV A115A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 5.595 50510 chr8 121463425 121463425 T C rs61753755 MTBP Synonymous SNV D96D 0.02 0.016 0.017 3 23 6 0.008 5 0 0 0 0 1.515 50511 chr8 124031541 124031541 T C rs2272722 DERL1 Nonsynonymous SNV I71V 0.057 0.076 0.102 21 67 29 0.054 30 3 0 2 2 6.19 50512 chr8 19819724 19819724 C G rs328 LPL Stop gain S474X 0.137 0.13 0.102 51 161 50 0.131 30 11 1 0 2 Benign 43 50513 chr8 124360487 124360487 G A rs77106954 ATAD2 Synonymous SNV H611H 0.008 0.016 0.017 6 9 6 0.015 5 1 0 0 1 8.899 50514 chr20 5903345 5903345 G A rs146850819 CHGB Synonymous SNV E185E 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 1.864 50515 chr20 60419750 60419750 C T rs34912551 CDH4 Synonymous SNV I164I 0.027 0.018 0.024 10 32 7 0.026 7 1 0 0 0 11.98 50516 chr20 5986950 5986950 G A rs6085343 CRLS1 Nonsynonymous SNV A20T 0.052 0.07 0.024 31 61 27 0.079 7 14 8 1 7 4.42 50517 chr8 124382184 124382184 C T rs117211505 ATAD2 Nonsynonymous SNV D270N 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.29 50518 chr20 60427926 60427926 C T rs139703524 CDH4 Synonymous SNV N246N 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 Benign 15.26 50519 chr12 47758032 47758032 A G rs215383 MIR4494 0 0 0.711 0 0 0 0 209 0 0 89 0 0.009 50520 chr7 90042176 90042176 C T rs17862175 CLDN12 Synonymous SNV D62D 0.019 0.039 0.02 5 22 15 0.013 6 1 1 0 0 10.2 50521 chr20 6033033 6033033 G A rs6107751 LRRN4 Nonsynonymous SNV P138L 0.156 0.195 0.197 75 183 75 0.192 58 21 14 4 9 25.7 50522 chr9 116082647 116082647 C G rs41307479 WDR31 Nonsynonymous SNV C132S 0.132 0.102 0.156 36 155 39 0.092 46 10 1 1 0 28.8 50523 chr8 145113014 145113014 G T OPLAH Nonsynonymous SNV F329L 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 3.047 50524 chr9 116132334 116132334 C T rs3088235 BSPRY Nonsynonymous SNV T379I 0.106 0.102 0.119 35 124 39 0.09 35 6 0 1 0 3.461 50525 chr8 145152221 145152221 A C rs35387134 CYC1 Synonymous SNV A320A 0.011 0.016 0 3 13 6 0.008 0 0 0 0 0 Benign 0.467 50526 chr8 25280800 25280800 C G rs6185 GNRH1 Nonsynonymous SNV W20S 0.189 0.206 0.231 73 222 79 0.187 68 26 9 11 7 Benign 11.54 50527 chr9 116152891 116152891 A G rs8177807 ALAD Synonymous SNV L147L 0.084 0.06 0.065 22 99 23 0.056 19 5 0 0 0 Likely benign 0.194 50528 chr12 48491849 48491849 G A rs370142655 SENP1 Synonymous SNV N21N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 50529 chr9 116152940 116152940 G A rs2228083 ALAD Synonymous SNV N130N 0.084 0.06 0.065 23 99 23 0.059 19 5 0 0 0 Likely benign 9.223 50530 chr9 116153900 116153900 A G rs1139488 ALAD Synonymous SNV Y48Y 0.298 0.328 0.303 122 350 126 0.313 89 56 24 8 22 Benign 2.603 50531 chr20 60887691 60887691 G A rs41307205 LAMA5 Nonsynonymous SNV P3075L 0.043 0.039 0.041 11 50 15 0.028 12 0 1 2 0 8.339 50532 chr9 116191244 116191244 G A rs78738447 C9orf43 0.073 0.044 0.068 17 86 17 0.044 20 3 0 0 0 13.38 50533 chr7 92062621 92062621 G T rs73230461 TMBIM7P 0.038 0.057 0 16 45 22 0.041 0 1 0 0 0 5.235 50534 chr20 60902011 60902011 G A rs45540543 LAMA5 Synonymous SNV Y1708Y 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign 0.086 50535 chr8 26492397 26492397 C T rs78121726 DPYSL2 Synonymous SNV I369I 0.057 0.06 0.041 17 67 23 0.044 12 2 0 1 0 20.5 50536 chr8 26721888 26721888 A C rs2229125 ADRA1A Nonsynonymous SNV I200S 0.012 0.005 0.014 1 14 2 0.003 4 0 0 0 0 27.3 50537 chr8 125989401 125989401 G A rs148366492 ZNF572 Synonymous SNV E297E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.603 50538 chr8 12600720 12600720 T A rs1139354 LONRF1 Nonsynonymous SNV I265L 0.084 0.081 0.126 39 99 31 0.1 37 3 1 2 4 11.84 50539 chr7 92735015 92735015 A G rs200661288 SAMD9 Synonymous SNV A132A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 0.031 50540 chr9 117051020 117051020 A G rs1687410 COL27A1 Synonymous SNV G1361G 0.175 0.151 0.126 44 205 58 0.113 37 17 2 2 2 8.221 50541 chr8 126443437 126443437 C T TRIB1 Nonsynonymous SNV P98L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 50542 chr8 126044527 126044527 C T rs11542889 WASHC5 Synonymous SNV A949A 0.046 0.031 0.078 16 54 12 0.041 23 1 0 0 1 Benign 20.8 50543 chr20 60907761 60907761 G A rs138521932 LAMA5 Nonsynonymous SNV L1099F 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign 23.2 50544 chr8 27291039 27291039 C G rs56175011 PTK2B Nonsynonymous SNV Q359E 0.012 0.018 0 11 14 7 0.028 0 0 0 0 0 Likely benign 0.004 50545 chr8 27301725 27301725 C G rs1128435 PTK2B Synonymous SNV P717P 0.197 0.214 0.214 85 231 82 0.218 63 23 8 6 8 14.58 50546 chr20 60926766 60926766 G A rs78026347 LAMA5 Nonsynonymous SNV P317L 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Benign 24.8 50547 chr12 48919870 48919870 C T OR8S1 Synonymous SNV G152G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 50548 chr8 27321189 27321189 G A rs56229264 CHRNA2 Synonymous SNV Y257Y 0.039 0.057 0.054 21 46 22 0.054 16 1 0 0 1 Benign 0.01 50549 chr20 16352401 16352401 T C rs8123195 KIF16B Nonsynonymous SNV N1068S 0.018 0.018 0.014 15 21 7 0.038 4 0 0 0 1 7.684 50550 chr20 61162289 61162289 G A rs149629841 MIR1-1HG Synonymous SNV S34S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.757 50551 chr20 16729048 16729048 T C rs17686437 OTOR Star tloss M1? 0.062 0.055 0.082 15 73 21 0.038 24 2 0 2 0 Benign 25.5 50552 chr8 2820811 2820811 G A rs372880190 CSMD1 Synonymous SNV L3129L 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 8.278 50553 chr12 49363980 49363980 G A rs151284263 WNT10B Nonsynonymous SNV H77Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24 50554 chr8 145700570 145700570 G A rs771820537 FOXH1 Synonymous SNV H83H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.943 50555 chr12 49495321 49495321 C A rs35541634 LMBR1L Synonymous SNV V256V 0.051 0.044 0.075 30 60 17 0.077 22 2 0 2 1 17.1 50556 chr9 117554791 117554791 C T rs55737197 TNFSF15 Nonsynonymous SNV R7H 0.031 0.021 0.014 6 36 8 0.015 4 0 0 0 0 1.041 50557 chr20 61444629 61444629 A G rs34441521 OGFR Synonymous SNV P554P 0.039 0.029 0.071 11 46 11 0.028 21 12 2 5 0 0.058 50558 chr20 61444665 61444665 G A rs6122314 OGFR Synonymous SNV P566P 0.03 0.021 0.041 8 35 8 0.021 12 11 2 3 1 1.738 50559 chr20 61448466 61448466 G A rs2294984 COL9A3 Nonsynonymous SNV G17E 0.018 0.018 0.054 4 21 7 0.01 16 3 2 1 0 Benign/Likely benign 1.889 50560 chr9 117804544 117804544 T C rs1061495 TNC Synonymous SNV T1734T 0.216 0.214 0.214 65 253 82 0.167 63 24 9 6 6 0.022 50561 chr8 28928091 28928091 A G rs777789673 KIF13B Nonsynonymous SNV L1804P 0.005 0 0 3 6 0 0.008 0 0 0 0 0 27.5 50562 chr12 50305007 50305007 C T rs394119 LINC02396 0 0 0.653 0 0 0 0 192 0 0 87 0 3.896 50563 chr12 50367211 50367211 G A rs143112396 AQP6 Synonymous SNV V85V 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 0.728 50564 chr12 50724444 50724444 G C rs12809349 FAM186A Nonsynonymous SNV Q2316E 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 24.3 50565 chr9 119461730 119461730 C G TRIM32 Nonsynonymous SNV S570W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 30 50566 chr8 3045428 3045428 A G rs142880495 CSMD1 Synonymous SNV G1861G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 7.155 50567 chr7 99490052 99490052 C T rs78599870 TRIM4 Nonsynonymous SNV D387N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.001 50568 chr9 119770495 119770495 G A rs61736198 ASTN2 Synonymous SNV S438S 0.015 0.021 0.014 1 18 8 0.003 4 0 0 0 0 Benign 14.73 50569 chr8 3059147 3059147 C T rs376908643 CSMD1 Synonymous SNV S1695S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.61 50570 chr9 121929575 121929575 T C rs28453 BRINP1 Synonymous SNV S691S 0.112 0.102 0.092 34 132 39 0.087 27 9 1 0 1 0.002 50571 chr7 99627504 99627504 C G rs148669042 ZKSCAN1 Nonsynonymous SNV P201A 0.009 0.016 0.014 8 11 6 0.021 4 0 0 0 1 11.77 50572 chr12 50745821 50745821 T A rs749548250 FAM186A Nonsynonymous SNV E1598D 0.015 0.005 0.048 3 18 2 0.008 14 0 0 0 0 0.001 50573 chr8 30703349 30703349 T C rs781062099 TEX15 Nonsynonymous SNV H1445R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 50574 chr12 50745822 50745822 T G rs768803345 FAM186A Nonsynonymous SNV E1598A 0.015 0.005 0.048 3 18 2 0.008 14 0 0 0 0 0.001 50575 chr8 1513814 1513814 A G rs3815235 DLGAP2-AS1 0.072 0.068 0.024 31 85 26 0.079 7 2 0 0 0 2.395 50576 chr9 123220829 123220829 A G rs2501727 CDK5RAP2 Synonymous SNV D758D 0.102 0.112 0.092 36 120 43 0.092 27 10 4 0 2 Benign/Likely benign 0.05 50577 chr12 50745827 50745827 C G rs12317332 FAM186A Synonymous SNV A1596A 0.015 0.005 0.048 2 18 2 0.005 14 0 0 0 0 1.412 50578 chr7 99705123 99705123 - G rs750417514 TAF6 Frameshift insertion S631Qfs*144 0 0.003 0 1 0 1 0.003 0 0 0 0 0 50579 chr9 123301346 123301346 T G rs3750494 CDK5RAP2 Synonymous SNV L160L 0.08 0.089 0.054 29 94 34 0.074 16 4 3 0 0 Benign/Likely benign 4.951 50580 chr7 99753429 99753429 C T rs139523163 MAP11 Synonymous SNV E151E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.53 50581 chr8 13424541 13424541 C A C8orf48 Nonsynonymous SNV A14D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 50582 chr8 135669810 135669810 C T rs17778003 ZFAT Nonsynonymous SNV G52R 0.092 0.096 0.095 28 108 37 0.072 28 4 1 0 2 23.1 50583 chr20 61981061 61981061 C T CHRNA4 Nonsynonymous SNV V568M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 50584 chr8 17611387 17611387 T G rs144780663 MTUS1 Nonsynonymous SNV K644Q 0.012 0.013 0.007 6 14 5 0.015 2 0 1 0 0 9.109 50585 chr12 50821551 50821551 G T rs146142861 LARP4 Nonsynonymous SNV A9S 0.025 0.031 0.041 14 29 12 0.036 12 0 1 1 0 16.23 50586 chr20 23334781 23334781 C T rs41282288 NXT1 Synonymous SNV L35L 0.034 0.031 0.037 28 40 12 0.072 11 1 0 0 0 12.34 50587 chr20 23421101 23421101 G A rs17757442 CSTL1 Nonsynonymous SNV R66K 0.075 0.094 0.085 40 88 36 0.103 25 3 2 0 1 0.035 50588 chr9 123875921 123875921 C G rs77083332 CNTRL Nonsynonymous SNV L422V 0.026 0.034 0.01 7 30 13 0.018 3 0 0 0 0 4.55 50589 chr8 3200877 3200877 C T rs2161752 CSMD1 Synonymous SNV L1190L 0.2 0.185 0.187 91 235 71 0.233 55 21 9 2 9 15.06 50590 chr20 23424638 23424638 C T rs3746737 CSTL1 Nonsynonymous SNV T96M 0.074 0.091 0.092 38 87 35 0.097 27 2 1 0 1 0.379 50591 chr9 124522400 124522400 G A rs34839326 DAB2IP Synonymous SNV K160K 0.026 0.023 0.007 7 31 9 0.018 2 0 0 0 0 Benign 11.44 50592 chr8 27394334 27394334 - GTC rs2234887 EPHX2 R337_T338insR 0.037 0.034 0.041 10 44 13 0.026 12 0 0 1 1 50593 chr8 32613983 32613983 T C rs10503929 NRG1 Nonsynonymous SNV M135T 0.151 0.161 0.163 65 177 62 0.167 48 15 7 2 5 12.42 50594 chr9 125133507 125133507 C T rs3842787 PTGS1 Nonsynonymous SNV P17L 0.049 0.049 0.01 13 57 19 0.033 3 0 0 0 0 1.234 50595 chr8 17830005 17830005 G A rs17514547 PCM1 Nonsynonymous SNV R1251H 0.028 0.013 0.02 9 33 5 0.023 6 1 0 0 0 16.33 50596 chr8 141310644 141310644 G A rs12549048 TRAPPC9 Synonymous SNV N555N 0.162 0.154 0.163 54 190 59 0.138 48 16 4 6 7 Benign 12.89 50597 chr8 101719034 101719114 CTAAAAAATAAGAACATTTTGTATTTTTATCTTGCTCTTTCAAATTGGTGATCAATTTTTAAAGGAAGGATTAAGACTCAC - PABPC1 0.05 0.063 0 15 59 24 0.038 0 0 0 0 0 50598 chr8 101721709 101721709 T A rs146200489 PABPC1 Nonsynonymous SNV Y408F 0.107 0.122 0.051 30 126 47 0.077 15 0 0 0 0 22.5 50599 chr8 101721727 101721727 G A rs139094790 PABPC1 Nonsynonymous SNV P402L 0.094 0.112 0.088 27 110 43 0.069 26 0 0 0 0 23.2 50600 chr8 37672471 37672471 A G rs16887051 ADGRA2 Synonymous SNV S108S 0.023 0.029 0.017 11 27 11 0.028 5 0 0 1 1 0.753 50601 chr8 37688966 37688966 G A rs111714720 ADGRA2 Nonsynonymous SNV V320M 0.007 0.013 0.01 6 8 5 0.015 3 0 0 0 0 22.9 50602 chr8 141525327 141525327 A G rs2231524 CHRAC1 Nonsynonymous SNV H126R 0.064 0.057 0.092 22 75 22 0.056 27 0 0 2 1 0.003 50603 chr20 25239956 25239956 C T rs143764062 PYGB Synonymous SNV C109C 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 16.35 50604 chr20 62199861 62199861 G A rs371989070 HELZ2 Nonsynonymous SNV A527V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.952 50605 chr8 38385914 38385914 C T rs1378332 C8orf86 Nonsynonymous SNV R81H 0.055 0.06 0.054 26 64 23 0.067 16 2 2 0 0 17.06 50606 chr8 141930944 141930944 T A PTK2 Synonymous SNV G23G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 50607 chr20 62221916 62221916 C T rs144730448 GMEB2 Synonymous SNV S373S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 50608 chr8 37730569 37730569 G A rs137855682 RAB11FIP1 Nonsynonymous SNV A584V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 17.76 50609 chr20 29891242 29891242 A T rs117663474 DEFB116 Nonsynonymous SNV S28T 0.065 0.039 0.051 9 76 15 0.023 15 4 0 0 0 0.294 50610 chr12 52644396 52644396 A C rs12581576 KRT87P 0 0 0.207 0 0 0 0 61 0 0 13 0 7.233 50611 chr8 30700598 30700598 T C rs61740968 TEX15 Nonsynonymous SNV N2362S 0.113 0.117 0.061 36 133 45 0.092 18 6 4 2 1 0.001 50612 chr8 38162945 38162945 G A rs185811622 NSD3 Nonsynonymous SNV S754L 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 Benign 27.4 50613 chr8 30701995 30701995 A C rs61732457 TEX15 Nonsynonymous SNV D1896E 0.102 0.099 0.058 30 120 38 0.077 17 5 2 0 0 16.9 50614 chr8 38678065 38678065 T C rs983161393 TACC1 Synonymous SNV L240L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.349 50615 chr20 30733201 30733201 C T rs148713328 TM9SF4 Synonymous SNV S269S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.19 50616 chr8 20036771 20036771 C T rs140491634 SLC18A1 Nonsynonymous SNV A117T 0.008 0 0.007 0 9 0 0 2 0 0 0 0 7.333 50617 chr8 39646261 39646261 T A rs75268423 ADAM2 0.016 0.016 0.02 8 19 6 0.021 6 0 0 0 0 23.6 50618 chr9 125563142 125563142 T C OR1K1 Synonymous SNV A247A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.688 50619 chr8 104384780 104384780 A G rs6995597 CTHRC1 Star tloss M1? 0.031 0.023 0.034 10 36 9 0.026 10 0 1 0 0 1.468 50620 chr8 41507886 41507886 C G rs1029254638 NKX6-3 Synonymous SNV G42G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.9 50621 chr8 32505615 32505615 G C rs34822181 NRG1 Nonsynonymous SNV A127P 0.012 0.008 0.007 3 14 3 0.008 2 0 0 0 0 9.27 50622 chr8 2021547 2021547 G A rs34316994 MYOM2 Nonsynonymous SNV V363I 0.022 0.026 0.034 13 26 10 0.033 10 0 0 0 0 8.427 50623 chr8 4494905 4494905 T C rs17417724 CSMD1 Synonymous SNV S87S 0.062 0.078 0.092 27 73 30 0.069 27 1 1 0 0 0.042 50624 chr8 41547748 41547748 G A rs7816734 ANK1 Synonymous SNV A1367A 0.032 0.031 0.048 13 37 12 0.033 14 0 0 1 0 Benign 11.27 50625 chr8 41574555 41574555 C T rs28533718 ANK1 Synonymous SNV P440P 0.009 0.021 0.014 3 10 8 0.008 4 0 0 0 0 Benign/Likely benign 16.17 50626 chr8 41583294 41583294 C T rs2304873 ANK1 Synonymous SNV P199P 0.152 0.138 0.139 70 179 53 0.179 41 16 3 4 7 Benign 17.3 50627 chr8 42231786 42231786 G A rs2073664 DKK4 Synonymous SNV V169V 0.076 0.081 0.054 29 89 31 0.074 16 4 2 2 2 10.57 50628 chr8 54792046 54792046 G C rs756131009 RGS20 Nonsynonymous SNV G132R 0.01 0.008 0 6 12 3 0.015 0 0 0 0 0 8.854 50629 chr8 21960096 21960096 C T rs117802113 FAM160B2 Nonsynonymous SNV L683F 0.11 0.115 0.082 53 129 44 0.136 24 7 4 1 4 24.8 50630 chr8 21982991 21982991 T C rs74596676 HR Nonsynonymous SNV Q528R 0.094 0.094 0.099 44 110 36 0.113 29 4 2 1 3 Benign 0.002 50631 chr9 126783426 126783426 C A rs140229756 LHX2 Nonsynonymous SNV P259Q 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 12.89 50632 chr8 21982997 21982997 A G rs56140348 HR Nonsynonymous SNV L526P 0.109 0.122 0.105 59 128 47 0.151 31 4 4 1 4 Benign 0.002 50633 chr8 10467651 10467651 - CTCTCTTCTT rs773894295 RP1L1 Frameshift insertion V1320Rfs*10 0.06 0.083 0.044 32 71 32 0.082 13 2 2 0 1 50634 chr9 12702386 12702386 C T rs145061390 TYRP1 Synonymous SNV D343D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.01 50635 chr8 21984765 21984765 C T rs73549523 HR Nonsynonymous SNV C397Y 0.086 0.091 0.078 39 101 35 0.1 23 2 1 1 3 Benign 23 50636 chr20 62853349 62853349 C G rs78568430 MYT1 Nonsynonymous SNV T782S 0.005 0.003 0.024 5 6 1 0.013 7 0 0 0 0 19.79 50637 chr8 57224826 57224826 C T SDR16C5 Nonsynonymous SNV V119I 0.008 0.005 0 6 9 2 0.015 0 0 0 0 0 21.3 50638 chr8 37914738 37914738 G A rs61753671 EIF4EBP1 Synonymous SNV Q95Q 0.025 0.018 0.014 10 29 7 0.026 4 1 0 0 0 Benign 4.635 50639 chr20 32265009 32265009 C T rs144481343 E2F1 Nonsynonymous SNV R323K 0 0.008 0.003 2 0 3 0.005 1 0 0 0 0 1.254 50640 chr8 22021423 22021423 G C rs202145169 SFTPC Nonsynonymous SNV A102P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Likely benign 8.186 50641 chr8 144618456 144618456 G A rs144112744 ZC3H3 Nonsynonymous SNV P511L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.818 50642 chr8 6296514 6296514 A T rs41313948 MCPH1 Synonymous SNV S159S 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.04 50643 chr20 32664862 32664862 C T rs11538301 RALY Synonymous SNV G213G 0 0.01 0.003 4 0 4 0.01 1 0 0 0 0 11.42 50644 chr8 105368408 105368408 A G rs4734780 DCSTAMP Synonymous SNV A465A 0.083 0.086 0.088 22 98 33 0.056 26 3 2 0 2 0.783 50645 chr20 33329014 33329014 T G rs754852497 NCOA6 Synonymous SNV P1682P 0 0.008 0 2 0 3 0.005 0 0 0 0 0 1.505 50646 chr8 10623138 10623138 T A rs1078543 PINX1 Nonsynonymous SNV S254C 0.145 0.18 0.143 60 170 69 0.154 42 10 3 2 5 18.69 50647 chr9 12775861 12775861 - GGTGGC rs139315731 LURAP1L G55_C56insGG 0.021 0.023 0 8 25 9 0.021 0 0 0 0 0 50648 chr20 33513983 33513983 G C rs45486997 ACSS2 Nonsynonymous SNV G506A 0.001 0.008 0.007 2 1 3 0.005 2 0 0 0 0 16.57 50649 chr20 33577668 33577668 T C rs144507206 MYH7B Synonymous SNV P613P 0 0.008 0 2 0 3 0.005 0 0 0 0 0 Benign 5.091 50650 chr8 6338306 6338306 C A rs12674488 MCPH1 Nonsynonymous SNV T682N 0.213 0.195 0.194 77 250 75 0.197 57 29 9 5 6 Benign 23.3 50651 chr8 10692242 10692242 G A rs1052523 PINX1 Synonymous SNV A21A 0.082 0.117 0.061 32 96 45 0.082 18 4 0 1 1 9.696 50652 chr9 127781451 127781451 G T SCAI Synonymous SNV R215R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 12.9 50653 chr8 144461673 144461673 G A rs199609984 RHPN1 Nonsynonymous SNV A314T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 50654 chr8 107782395 107782395 G A rs11996466 ABRA Synonymous SNV S8S 0.41 0.383 0.401 167 481 147 0.428 118 106 28 19 36 2.953 50655 chr8 6378784 6378784 C A rs55633437 ANGPT2 Synonymous SNV T186T 0.058 0.044 0.048 23 68 17 0.059 14 0 1 1 1 21.1 50656 chr8 144511538 144511538 C A rs62521874 MAFA Nonsynonymous SNV G347C 0.032 0.029 0.007 12 37 11 0.031 2 2 1 1 1 22.4 50657 chr8 108296964 108296964 C T rs146465357 ANGPT1 Nonsynonymous SNV R184Q 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 Likely benign 22.2 50658 chr20 33865576 33865576 - GGGCTC rs202179303 MMP24OS P52_S53insEP 0.026 0.034 0 18 31 13 0.046 0 4 2 0 5 50659 chr8 41791414 41791414 C T rs113195648 KAT6A Nonsynonymous SNV A1442T 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 16.04 50660 chr20 33874784 33874784 A G rs35560631 FAM83C Nonsynonymous SNV Y600H 0.003 0.008 0.017 3 4 3 0.008 5 0 0 1 0 0.002 50661 chr8 42287711 42287711 G A rs145970823 SLC20A2 Nonsynonymous SNV T527M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 13.68 50662 chr12 53167416 53167416 C A rs149868801 KRT76 Stop gain E276X 0.009 0.005 0.02 0 11 2 0 6 0 0 0 0 39 50663 chr8 42302276 42302276 G A rs760241437 SLC20A2 Synonymous SNV L206L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Likely benign 12.69 50664 chr9 130104607 130104607 G A rs759157717 GARNL3 Synonymous SNV L415L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.02 50665 chr9 130165973 130165973 T C rs34064803 SLC2A8 Nonsynonymous SNV I90T 0.146 0.156 0.126 48 171 60 0.123 37 8 6 3 3 23.1 50666 chr8 65527669 65527669 C T rs59035258 CYP7B1 Nonsynonymous SNV R324H 0.056 0.042 0.082 33 66 16 0.085 24 1 0 1 2 Benign/Likely benign 9.562 50667 chr8 43157176 43157176 G A rs76712602 POTEA Synonymous SNV Q252Q 0.045 0.065 0.01 18 53 25 0.046 3 2 0 0 0 2.346 50668 chr8 22900701 22900701 G A rs1047266 TNFRSF10B Nonsynonymous SNV A67V 0.041 0.039 0.058 15 48 15 0.038 17 1 0 2 1 10.5 50669 chr20 34220548 34220548 C T rs142217317 CPNE1 Nonsynonymous SNV R67H 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 20.5 50670 chr8 144651881 144651881 G T rs187831058 MROH6 Nonsynonymous SNV L430M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 50671 chr8 110455212 110455212 T C PKHD1L1 Synonymous SNV H1477H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.987 50672 chr8 67831263 67831263 G A MCMDC2 Synonymous SNV P635P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.63 50673 chr8 110456917 110456917 G A rs73700891 PKHD1L1 Nonsynonymous SNV V1607I 0.019 0.013 0.017 6 22 5 0.015 5 0 0 0 0 9.427 50674 chr8 68115346 68115346 G A rs61753693 ARFGEF1 Synonymous SNV N1700N 0.026 0.029 0.017 13 31 11 0.033 5 0 0 0 0 11.3 50675 chr8 53030923 53030923 G T rs117471862 ST18 Nonsynonymous SNV A863E 0.009 0.008 0 7 10 3 0.018 0 0 0 0 0 Benign 31 50676 chr20 36758762 36758762 G A rs2229472 TGM2 Synonymous SNV P560P 0 0.008 0 2 0 3 0.005 0 0 0 0 0 Benign 7.762 50677 chr8 144732450 144732450 G A rs3750204 ZNF623 Synonymous SNV S136S 0.251 0.221 0.289 114 295 85 0.292 85 44 14 14 11 5.288 50678 chr8 110510993 110510993 C A rs9774677 PKHD1L1 Nonsynonymous SNV D3607E 0.019 0.013 0.014 6 22 5 0.015 4 0 0 0 0 0.001 50679 chr20 36776393 36776393 G C rs45461691 TGM2 Synonymous SNV P136P 0 0.008 0.003 2 0 3 0.005 1 0 0 0 0 Benign 8.176 50680 chr8 110516653 110516653 T C rs73700608 PKHD1L1 Synonymous SNV H3642H 0.019 0.013 0.014 6 22 5 0.015 4 0 0 0 0 1.022 50681 chr8 23294761 23294761 T C rs2272641 ENTPD4 Nonsynonymous SNV K346E 0.045 0.029 0.031 17 53 11 0.044 9 1 1 0 0 7.937 50682 chr8 54163562 54163562 C A rs1051660 OPRK1 Synonymous SNV P12P 0.057 0.068 0.112 24 67 26 0.062 33 2 0 2 1 18.53 50683 chr8 110656375 110656375 C T rs150117041 LOC100132813 0.015 0.01 0.024 6 18 4 0.015 7 0 0 0 1 10.56 50684 chr8 110657355 110657355 T G rs7011702 LOC100132813 0.023 0.013 0.027 8 27 5 0.021 8 0 0 0 0 0.004 50685 chr8 110657643 110657643 C G rs10106169 LOC100132813 0.012 0.008 0.027 6 14 3 0.015 8 0 0 0 0 7.327 50686 chr8 11152805 11152805 C T rs61753804 MTMR9 Synonymous SNV S95S 0.022 0.013 0.014 7 26 5 0.018 4 0 0 0 0 14.59 50687 chr8 56015099 56015099 G A rs77468937 XKR4 Synonymous SNV V17V 0.012 0.018 0.01 2 14 7 0.005 3 0 0 0 0 8.404 50688 chr8 72965973 72965973 G A rs3735942 MSC-AS1 0.284 0.263 0.231 134 334 101 0.344 68 51 13 6 18 5.811 50689 chr20 36982779 36982779 C G rs140791140 LBP Nonsynonymous SNV T155S 0.001 0.008 0.01 5 1 3 0.013 3 0 0 0 0 0.64 50690 chr12 54797022 54797022 G A rs138831238 ITGA5 Synonymous SNV H621H 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 9.613 50691 chr12 54925322 54925322 C T rs921339001 NCKAP1L Synonymous SNV N834N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 50692 chr8 71550832 71550832 T C rs7830986 LACTB2 Synonymous SNV K258K 0.121 0.12 0.034 48 142 46 0.123 10 13 6 1 4 0.658 50693 chr8 144804299 144804299 T C rs56038219 MAPK15 Nonsynonymous SNV S505P 0.026 0.026 0.017 6 31 10 0.015 5 0 0 0 0 22.9 50694 chr8 72211295 72211295 T C rs1445398 EYA1 Synonymous SNV T271T 0.055 0.052 0.061 16 64 20 0.041 18 1 2 1 0 Benign 7.65 50695 chr8 113599314 113599314 G A CSMD3 Nonsynonymous SNV A1159V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.1 50696 chr21 32090908 32090908 C T rs2833031 KRTAP21-3 Nonsynonymous SNV C57Y 0.017 0.031 0.02 9 20 12 0.023 6 1 0 1 0 2.615 50697 chr21 32119495 32119495 C G rs12053674 KRTAP21-2 Nonsynonymous SNV C9S 0.018 0.031 0.027 9 21 12 0.023 8 0 0 0 0 0.038 50698 chr12 55250576 55250576 C T rs146901988 MUCL1 Synonymous SNV A41A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.719 50699 chr8 74893419 74893419 C G rs61732273 TMEM70 Nonsynonymous SNV L116V 0.036 0.021 0.017 16 42 8 0.041 5 2 0 0 0 Benign 0.001 50700 chr8 73850203 73850203 G A rs11782118 KCNB2 Synonymous SNV V871V 0.365 0.378 0.391 157 429 145 0.403 115 79 28 24 29 2.504 50701 chr8 62212465 62212465 C A CLVS1 Nonsynonymous SNV Q27K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 17.16 50702 chr8 74706352 74706352 T - rs144174398 UBE2W 0.072 0.044 0.034 26 84 17 0.067 10 4 0 0 0 50703 chr20 42602012 42602012 T C rs1028201671 TOX2 Synonymous SNV D35D 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 5.32 50704 chr8 76465360 76465360 A G rs1805099 HNF4G Synonymous SNV K191K 0.059 0.068 0.078 29 69 26 0.074 23 2 0 0 1 8.84 50705 chr8 26722025 26722025 G C rs2229124 ADRA1A Synonymous SNV S154S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 5.553 50706 chr9 131483551 131483551 T A rs11539209 ZDHHC12 Nonsynonymous SNV N293I 0.088 0.068 0.078 35 103 26 0.09 23 7 1 0 1 28.3 50707 chr8 77616813 77616813 G A rs147642461 ZFHX4 Nonsynonymous SNV A164T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 22.7 50708 chr8 144941150 144941150 T C EPPK1 Nonsynonymous SNV D2091G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.94 50709 chr8 79609647 79609647 G A rs35904168 ZC2HC1A Synonymous SNV K170K 0.076 0.078 0.078 41 89 30 0.105 23 3 0 0 1 9.964 50710 chr8 6614694 6614694 G C AGPAT5 Nonsynonymous SNV E294Q 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 50711 chr21 33745980 33745980 G A URB1 Synonymous SNV T284T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.871 50712 chr8 77766336 77766336 A G rs113906809 ZFHX4 Synonymous SNV P2393P 0.01 0.018 0.014 8 12 7 0.021 4 0 0 0 0 7.624 50713 chr12 56031611 56031611 A G rs11171631 OR10P1 Synonymous SNV S312S 0.131 0.125 0.122 50 154 48 0.128 36 15 2 4 0 0.027 50714 chr12 56077740 56077740 C T rs11615467 METTL7B Synonymous SNV N214N 0.066 0.076 0.082 31 77 29 0.079 24 1 2 2 0 8.768 50715 chr8 82670412 82670412 G A rs62514262 CHMP4C Synonymous SNV Q173Q 0.072 0.055 0.071 27 84 21 0.069 21 0 0 1 1 3.966 50716 chr12 56082025 56082025 G C rs17117883 ITGA7 Synonymous SNV S558S 0.07 0.073 0.082 31 82 28 0.079 24 1 2 2 0 Conflicting interpretations of pathogenicity 8.944 50717 chr8 67577178 67577178 G A rs61753692 VCPIP1 Synonymous SNV H672H 0.099 0.076 0.116 40 116 29 0.103 34 5 0 1 2 0.401 50718 chr8 80831351 80831351 C T rs200994359 MRPS28 Nonsynonymous SNV R143Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 34 50719 chr8 67748231 67748231 G A rs35809374 C8orf44-SGK3, SGK3 Synonymous SNV P221P 0.039 0.036 0.024 6 46 14 0.015 7 3 1 0 0 12.19 50720 chr8 67813482 67813482 G A rs139959817 MCMDC2 Synonymous SNV L556L 0.022 0.031 0.014 6 26 12 0.015 4 1 1 0 0 9.7 50721 chr12 56437256 56437256 C T rs766621663 RPS26 Synonymous SNV P97P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.83 50722 chr8 67971452 67971452 T C rs11557200 COPS5 Synonymous SNV A124A 0.035 0.036 0.017 6 41 14 0.015 5 3 1 0 0 0.073 50723 chr8 68074137 68074137 G A rs16933182 CSPP1 Nonsynonymous SNV R527H 0.035 0.036 0.017 6 41 14 0.015 5 3 1 0 0 Benign 23.4 50724 chr21 35281421 35281421 T C rs4842 ATP5PO Nonsynonymous SNV K98R 0.095 0.133 0.078 34 112 51 0.087 23 11 4 1 1 18.42 50725 chr12 56664041 56664041 G A rs11543260 COQ10A Synonymous SNV K196K 0.032 0.023 0.024 5 38 9 0.013 7 1 0 0 0 9.484 50726 chr9 13223587 13223587 C T rs758015553 MPDZ Synonymous SNV E172E 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 11.77 50727 chr9 132375432 132375432 C T rs2302779 C9orf50 Nonsynonymous SNV R381Q 0.141 0.159 0.163 59 166 61 0.151 48 11 3 2 3 22.3 50728 chr8 70541799 70541799 G A rs143386315 SULF1 Synonymous SNV R723R 0.009 0.008 0.003 7 11 3 0.018 1 0 0 0 1 Benign 14.02 50729 chr8 92231150 92231150 G A rs374699365 LRRC69 Synonymous SNV V166V 0.003 0 0 0 3 0 0 0 0 0 0 0 2.06 50730 chr8 2800096 2800096 C T rs11984691 CSMD1 Nonsynonymous SNV S3478N 0.031 0.044 0.054 16 36 17 0.041 16 0 1 0 0 0.01 50731 chr8 8560321 8560321 T A rs376115128 CLDN23 Nonsynonymous SNV F138Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.029 50732 chr9 132569553 132569553 C T rs1043178 TOR1B Synonymous SNV P184P 0.321 0.299 0.306 143 377 115 0.367 90 53 15 12 25 16.75 50733 chr8 121502795 121502795 T G rs148151530 MTBP Nonsynonymous SNV L478V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.32 50734 chr8 94746049 94746049 T G rs16916188 RBM12B Nonsynonymous SNV N864H 0.025 0.021 0.031 8 29 8 0.021 9 2 0 1 0 4.034 50735 chr20 44580788 44580788 G T rs11905235 ZNF335 Synonymous SNV R1063R 0.032 0.031 0.02 13 37 12 0.033 6 1 0 0 0 Benign 15.17 50736 chr8 72958799 72958799 G A rs61757563 TRPA1 Synonymous SNV T670T 0.033 0.026 0.054 18 39 10 0.046 16 0 0 0 1 1.8 50737 chr12 57548466 57548466 C T rs1800137 LRP1 Synonymous SNV T403T 0.031 0.036 0.024 11 36 14 0.028 7 1 1 0 0 12.86 50738 chr12 57588433 57588433 G A rs1800141 LRP1 Synonymous SNV T2714T 0.039 0.047 0.031 16 46 18 0.041 9 1 1 0 0 15.79 50739 chr9 132861782 132861782 A G rs762147017 GPR107 Nonsynonymous SNV T304A 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 17.33 50740 chr8 95411727 95411727 G A rs35235038 RAD54B Synonymous SNV D247D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.31 50741 chr9 133553993 133553993 C T rs7021384 PRDM12 Synonymous SNV P216P 0.409 0.411 0.374 169 480 158 0.433 110 108 30 24 34 11.09 50742 chr8 95470511 95470511 C G rs2919661 RAD54B Nonsynonymous SNV D97H 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 9.925 50743 chr9 133884676 133884676 C T rs13286358 LAMC3 Synonymous SNV C25C 0.036 0.057 0.017 13 42 22 0.033 5 0 0 0 0 Benign 14.78 50744 chr8 95680457 95680457 C T rs77276626 ESRP1 Synonymous SNV S404S 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 Benign 14.47 50745 chr21 39493232 39493232 G A rs61731605 DSCR4 0.045 0.047 0.041 17 53 18 0.044 12 1 0 0 0 14.72 50746 chr12 57627074 57627074 G T rs2229717 SHMT2 Synonymous SNV L313L 0.053 0.055 0.088 17 62 21 0.044 26 2 0 2 1 6.431 50747 chr12 57849921 57849921 A T rs139176331 INHBE Nonsynonymous SNV T115S 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 0.025 50748 chr20 45905526 45905526 T C rs780085551 ZMYND8 Nonsynonymous SNV I313V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.997 50749 chr9 134021630 134021630 A G rs2296710 NUP214 Synonymous SNV T617T 0.29 0.297 0.282 109 340 114 0.279 83 55 12 13 12 0.06 50750 chr8 74939035 74939037 ACA - rs527737087 LY96 T86del 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 50751 chr8 98788261 98788261 G T rs2449508 LAPTM4B Synonymous SNV T8T 0.152 0.13 0.143 46 179 50 0.118 42 8 2 4 6 7.377 50752 chr9 134136248 134136248 G A rs9966 FAM78A Synonymous SNV Y271Y 0.186 0.201 0.173 86 218 77 0.221 51 20 12 5 7 3.788 50753 chr20 47361610 47361610 G A rs55952330 PREX1 Synonymous SNV H122H 0.06 0.049 0.051 25 71 19 0.064 15 2 0 1 3 0.113 50754 chr21 40823860 40823860 A G rs61732692 SH3BGR Synonymous SNV T9T 0.037 0.016 0.037 16 43 6 0.041 11 0 0 0 0 0.208 50755 chr8 98991223 98991223 A G rs1869608 MATN2 Synonymous SNV K356K 0.112 0.107 0.126 54 132 41 0.138 37 11 1 6 3 0.055 50756 chr8 36776359 36776359 C A rs918885995 KCNU1 Nonsynonymous SNV T847K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.018 50757 chr12 62777773 62777773 A G rs574065431 USP15 Synonymous SNV P165P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.798 50758 chr9 100092842 100092842 T A rs751417322 CCDC180 Synonymous SNV S733S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 50759 chr20 48523326 48523326 G A rs36022883 SPATA2 Synonymous SNV I131I 0.03 0.018 0.034 9 35 7 0.023 10 0 0 0 0 7.18 50760 chr8 8235148 8235148 C G rs753293031 PRAG1 Synonymous SNV L257L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.879 50761 chr8 8654898 8654898 C T rs3827812 MFHAS1 Synonymous SNV P1034P 0.133 0.133 0.15 56 156 51 0.144 44 8 4 4 4 18.62 50762 chr8 87162515 87162515 G A rs10094744 ATP6V0D2 Nonsynonymous SNV G272R 0.004 0 0 0 5 0 0 0 0 0 0 0 18.57 50763 chr8 145162661 145162661 C G rs190983697 WDR97 Nonsynonymous SNV A3G 0.009 0.01 0.01 8 11 4 0.021 3 0 0 0 0 3.224 50764 chr8 87439926 87439926 C T rs60177164 WWP1 Synonymous SNV T404T 0.052 0.06 0.078 22 61 23 0.056 23 1 0 2 0 14.6 50765 chr9 100862339 100862339 C A rs35830621 TRIM14 Synonymous SNV T137T 0.081 0.073 0.071 43 95 28 0.11 21 7 1 1 5 12.5 50766 chr8 39114859 39114859 G A rs757713976 ADAM32 Nonsynonymous SNV S621N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.416 50767 chr8 98289714 98289714 G C rs2635164 TSPYL5 Nonsynonymous SNV T120S 0.107 0.128 0.129 37 126 49 0.095 38 3 4 2 2 8.07 50768 chr8 12950315 12950315 G T rs568182 DLC1 Synonymous SNV R671R 0.052 0.039 0.075 24 61 15 0.062 22 0 1 2 2 9.527 50769 chr9 101340316 101340316 T C rs3750344 GABBR2 Synonymous SNV A120A 0.211 0.245 0.224 73 248 94 0.187 66 29 12 10 6 no interpretation for the single variant 8.295 50770 chr8 12952293 12952293 C T rs658856 DLC1 Synonymous SNV S656S 0.052 0.036 0.075 23 61 14 0.059 22 0 1 2 2 14.36 50771 chr8 12957179 12957179 G A DLC1 Synonymous SNV S378S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.062 50772 chr9 135703450 135703450 G T rs114347984 AK8 Nonsynonymous SNV T124K 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 20.6 50773 chr8 145771154 145771154 C T rs11994207 ARHGAP39 Nonsynonymous SNV R667Q 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 26.8 50774 chr9 135772717 135772717 G A rs4962081 TSC1 Synonymous SNV A892A 0.064 0.068 0.085 22 75 26 0.056 25 3 0 0 0 Benign 11.3 50775 chr8 90802491 90802491 A G rs16900617 RIPK2 Synonymous SNV L490L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.927 50776 chr8 130760954 130760954 G A rs34385086 GSDMC Synonymous SNV Y440Y 0.043 0.055 0.034 19 51 21 0.049 10 3 0 0 1 0.034 50777 chr8 145268009 145268009 C T rs74345248 MROH1 Synonymous SNV P418P 0.042 0.023 0.024 19 49 9 0.049 7 0 0 0 0 4.028 50778 chr9 101749581 101749581 C T rs80261930 COL15A1 Synonymous SNV S218S 0.018 0.023 0.014 10 21 9 0.026 4 0 0 0 1 Benign 16.34 50779 chr8 99170061 99170061 C T rs373544255 POP1 Synonymous SNV A879A 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 8.904 50780 chr8 91031349 91031349 T C rs138725804 DECR1 Synonymous SNV D122D 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 1.573 50781 chr9 101778272 101778272 A C rs35250850 COL15A1 Nonsynonymous SNV E506D 0.055 0.057 0.044 22 64 22 0.056 13 0 0 0 0 0.065 50782 chr8 13133881 13133881 G T rs144792804 DLC1 Nonsynonymous SNV A10E 0.072 0.091 0.037 25 84 35 0.064 11 2 0 0 0 16.42 50783 chr8 42040350 42040350 G A rs115475531 PLAT Synonymous SNV T141T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 10.29 50784 chr8 94146636 94146636 G A rs79906536 C8orf87 0.051 0.042 0.068 21 60 16 0.054 20 0 0 1 0 19.75 50785 chr8 42323380 42323380 C T rs34124953 SLC20A2 Synonymous SNV T115T 0.011 0.01 0.02 3 13 4 0.008 6 0 0 0 0 Benign/Likely benign 14.03 50786 chr21 43338302 43338302 A G rs2839421 C2CD2 Nonsynonymous SNV V56A 0.078 0.107 0.082 25 91 41 0.064 24 2 4 1 0 0.027 50787 chr9 101831995 101831995 G A rs10519 COL15A1 Nonsynonymous SNV V1332I 0.083 0.068 0.112 29 98 26 0.074 33 8 0 2 2 3.415 50788 chr21 43338328 43338328 C A rs2839422 C2CD2 Synonymous SNV V47V 0.078 0.104 0.078 25 92 40 0.064 23 2 3 1 0 10.69 50789 chr9 102590927 102590927 C T rs140220595 NR4A3 Synonymous SNV P201P 0.052 0.036 0.027 27 61 14 0.069 8 3 0 0 0 12.95 50790 chr20 56094415 56094415 T C CTCFL Nonsynonymous SNV H258R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.001 50791 chr9 136228007 136228007 C T rs61751475 SURF2 Nonsynonymous SNV P254S 0.029 0.021 0.054 14 34 8 0.036 16 0 0 0 0 5.24 50792 chr9 136268912 136268912 A G rs28510482 STKLD1 Synonymous SNV A521A 0.187 0.206 0.177 67 220 79 0.172 52 20 5 5 6 0.01 50793 chr9 136270538 136270538 T G rs41302673 STKLD1 Nonsynonymous SNV L679R 0.087 0.096 0.078 40 102 37 0.103 23 1 1 2 0 16.34 50794 chr9 100364941 100364941 G A rs141485506 TSTD2 Nonsynonymous SNV A454V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27 50795 chr8 17396380 17396380 G A rs13259948 SLC7A2 Nonsynonymous SNV R16Q 0.177 0.135 0.201 45 208 52 0.115 59 19 1 5 2 5.098 50796 chr8 133883671 133883671 C T rs114322847 TG Nonsynonymous SNV P118L 0.006 0.008 0.003 1 7 3 0.003 1 1 0 0 0 Uncertain significance 24.5 50797 chr8 145738349 145738349 G T rs137975310 RECQL4 Nonsynonymous SNV P879H 0.037 0.031 0.007 25 44 12 0.064 2 0 0 0 1 Benign 2.406 50798 chr9 136342178 136342178 C A rs34209214 SLC2A6 Synonymous SNV G147G 0.044 0.039 0.051 20 52 15 0.051 15 5 0 0 0 18.95 50799 chr20 56189985 56189985 C G rs16981187 ZBP1 Nonsynonymous SNV D79H 0.065 0.065 0.071 45 76 25 0.115 21 2 2 1 3 12.12 50800 chr8 95897400 95897400 T G CCNE2 Synonymous SNV T242T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.604 50801 chr9 100675816 100675816 A G rs1127703 TRMO Synonymous SNV N92N 0.292 0.234 0.241 82 343 90 0.21 71 52 12 12 9 8.5 50802 chr8 53079426 53079426 C T rs530029309 ST18 Nonsynonymous SNV R397Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 50803 chr9 100756984 100756984 G A rs146174352 ANP32B Synonymous SNV V42V 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 12.36 50804 chr9 1051647 1051647 G C DMRT2 Nonsynonymous SNV D12H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.8 50805 chr12 67703957 67703957 C T CAND1 Nonsynonymous SNV T1074M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 50806 chr9 101552711 101552711 T C rs200417280 ANKS6 Synonymous SNV Q179Q 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Benign/Likely benign 0.001 50807 chr8 134237635 134237635 G T rs35513885 CCN4 Nonsynonymous SNV A118S 0.026 0.047 0.034 8 30 18 0.021 10 0 1 1 0 0.003 50808 chr9 136662928 136662928 A G rs7865299 VAV2 Synonymous SNV L275L 0.207 0.185 0.214 65 243 71 0.167 63 28 4 10 5 4.243 50809 chr8 99895940 99895940 G A rs16897117 STK3 Synonymous SNV N15N 0.072 0.091 0.041 29 84 35 0.074 12 1 3 0 0 0.824 50810 chr8 62557164 62557164 T C rs117730298 ASPH Nonsynonymous SNV E173G 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 14.17 50811 chr9 107267352 107267352 T C rs7847413 OR13F1 Nonsynonymous SNV I270T 0.152 0.154 0.133 54 179 59 0.138 39 14 7 2 5 10.37 50812 chr8 13424727 13424727 A G rs147132901 C8orf48 Nonsynonymous SNV Y76C 0.022 0.018 0.01 14 26 7 0.036 3 1 0 0 0 0.038 50813 chr20 57429696 57429696 - TGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG GNAS I402_Q403insPTPGRPVTPQPI 0.006 0.008 0.014 6 7 3 0.015 4 0 0 0 0 50814 chr8 17206588 17206588 G A rs2285291 MTMR7 Synonymous SNV V157V 0.062 0.047 0.044 16 73 18 0.041 13 1 0 0 0 12.7 50815 chr12 69326547 69326547 C T rs7978197 CPM Nonsynonymous SNV R24H 0.034 0.044 0.054 21 40 17 0.054 16 1 1 2 0 23.3 50816 chr9 138515991 138515991 A G rs12351198 GLT6D1 Synonymous SNV T261T 0.141 0.154 0.163 61 166 59 0.156 48 10 4 4 3 0.174 50817 chr9 138516128 138516128 C T rs61739510 GLT6D1 Nonsynonymous SNV A216T 0.047 0.042 0.027 14 55 16 0.036 8 2 0 0 1 25.5 50818 chr9 100616712 100616712 C A rs775448711 FOXE1 Synonymous SNV A172A 0.041 0.023 0.075 6 48 9 0.015 22 2 0 2 0 13.53 50819 chr9 104239321 104239321 G C rs11546567 TMEM246 Synonymous SNV L18L 0.089 0.086 0.105 31 104 33 0.079 31 4 1 2 2 7.644 50820 chr9 138516190 138516190 T C rs35762223 GLT6D1 Nonsynonymous SNV H195R 0.151 0.161 0.167 62 177 62 0.159 49 10 5 7 6 22.5 50821 chr12 6954864 6954864 G A rs5442 GNB3 Nonsynonymous SNV G271S 0.05 0.044 0.048 25 59 17 0.064 14 1 0 0 2 33 50822 chr8 1824742 1824742 A G rs749423042 ARHGEF10 Nonsynonymous SNV M230V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 18.22 50823 chr8 17612694 17612694 C G rs73206291 MTUS1 Nonsynonymous SNV W208S 0.088 0.096 0.082 50 103 37 0.128 24 3 1 0 3 14.13 50824 chr9 138516347 138516347 A - rs34217442 GLT6D1 W143Gfs*9 0.17 0.161 0.143 63 200 62 0.162 42 22 4 4 2 50825 chr9 107578529 107578529 T C rs34788556 ABCA1 Synonymous SNV E1211E 0.019 0.008 0.017 7 22 3 0.018 5 0 0 0 0 Benign 4.58 50826 chr12 6993151 6993151 G T rs2269358 RPL13P5 0 0 0.337 0 0 0 0 99 0 0 12 0 2.117 50827 chr9 107589255 107589255 C T rs2066718 ABCA1 Nonsynonymous SNV V771M 0.051 0.031 0.037 19 60 12 0.049 11 3 0 0 0 Benign 14.75 50828 chr8 17731935 17731935 T C rs35311020 FGL1 Nonsynonymous SNV M114V 0.019 0.021 0.024 7 22 8 0.018 7 0 1 0 0 24.8 50829 chr8 139749799 139749799 G T rs10111520 COL22A1 Nonsynonymous SNV P703T 0.07 0.083 0.088 28 82 32 0.072 26 4 1 1 0 7.467 50830 chr9 107602666 107602666 C T rs2246841 ABCA1 Synonymous SNV G316G 0.121 0.138 0.133 53 142 53 0.136 39 9 5 1 3 Benign 13.23 50831 chr8 1846688 1846688 C T rs12681485 ARHGEF10 Synonymous SNV L511L 0.031 0.026 0.041 8 36 10 0.021 12 1 0 0 0 16.73 50832 chr8 17739639 17739639 C A rs78484373 FGL1 Nonsynonymous SNV R38L 0.032 0.036 0.065 11 37 14 0.028 19 0 1 0 1 15.96 50833 chr9 1051793 1051793 A G DMRT2 Synonymous SNV E60E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.308 50834 chr9 138662188 138662188 G A rs764477306 KCNT1 Nonsynonymous SNV R510H 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Uncertain significance 32 50835 chr9 108151319 108151319 G A rs1008873320 SLC44A1 Synonymous SNV S652S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.626 50836 chr9 108230553 108230553 G T rs41316532 FSD1L Nonsynonymous SNV S64I 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 25.8 50837 chr8 17743051 17743051 A T rs61745164 FGL1 Nonsynonymous SNV F5I 0.032 0.036 0.065 12 38 14 0.031 19 0 1 0 1 0.004 50838 chr9 138703437 138703437 G C rs147212718 CAMSAP1 Synonymous SNV A1509A 0.023 0.021 0.003 11 27 8 0.028 1 0 0 0 0 8.688 50839 chr20 60835091 60835091 C T rs73143091 OSBPL2 Nonsynonymous SNV T19M 0.009 0.008 0 4 11 3 0.01 0 1 0 0 0 12.04 50840 chr9 101816909 101816909 A G rs35544077 COL15A1 Nonsynonymous SNV K1001R 0.017 0.005 0.014 7 20 2 0.018 4 0 0 0 0 23.8 50841 chr21 45845692 45845692 C T rs140290337 TRPM2 Synonymous SNV N1259N 0.019 0.026 0.01 4 22 10 0.01 3 0 1 0 0 Benign 14.81 50842 chr9 110249505 110249505 C T rs2236599 KLF4 Synonymous SNV G390G 0.213 0.203 0.241 83 250 78 0.213 71 18 10 10 8 0.553 50843 chr9 138908250 138908250 C T rs2275107 NACC2 Synonymous SNV P304P 0.133 0.112 0.082 52 156 43 0.133 24 9 2 2 5 12.03 50844 chr9 111929420 111929420 C G rs10979723 FRRS1L Nonsynonymous SNV R51P 0.54 0.474 0.224 205 634 182 0.526 66 317 91 33 102 15.32 50845 chr8 72129009 72129009 G A rs4738118 EYA1 Synonymous SNV G426G 0.149 0.122 0.116 52 175 47 0.133 34 14 3 1 2 Benign 11.43 50846 chr9 111929421 111929421 G C rs10979724 FRRS1L Nonsynonymous SNV R51G 0.537 0.474 0.218 201 630 182 0.515 64 315 91 32 100 Benign 11.69 50847 chr8 72246370 72246370 G A rs201434219 EYA1 Nonsynonymous SNV T55M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 50848 chr9 139137523 139137523 C T QSOX2 Nonsynonymous SNV A43T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.63 50849 chr12 72666499 72666499 - AGG rs35448406 TRHDE-AS1 0 0 0.061 0 0 0 0 18 0 0 6 0 50850 chr8 2017399 2017399 C T rs34823600 MYOM2 Nonsynonymous SNV A219V 0.02 0.029 0.017 11 23 11 0.028 5 0 0 0 1 21.8 50851 chr9 139235482 139235482 C - rs145729152 GPSM1 T415Qfs*55 0.081 0.078 0.099 36 95 30 0.092 29 3 1 3 0 50852 chr8 17942204 17942204 C T rs13263632 ASAH1 Nonsynonymous SNV S36N 0.035 0.049 0.01 8 41 19 0.021 3 2 0 0 0 Benign 0.785 50853 chr9 107550222 107550222 G A rs9282537 ABCA1 Synonymous SNV G2061G 0.028 0.029 0.031 8 33 11 0.021 9 1 0 0 0 Benign 12.88 50854 chr8 2017415 2017415 T C rs17064642 MYOM2 Synonymous SNV T224T 0.02 0.029 0.024 11 23 11 0.028 7 0 0 0 1 0.019 50855 chr9 139235606 139235606 G C rs78403475 GPSM1 Nonsynonymous SNV A455P 0.049 0.042 0.075 21 58 16 0.054 22 0 1 1 0 0.563 50856 chr8 2033446 2033446 G A rs75318724 MYOM2 Nonsynonymous SNV S523N 0.031 0.034 0.02 15 36 13 0.038 6 0 0 0 1 20.8 50857 chr9 104238730 104238730 T A rs17187712 PGAP4 Synonymous SNV V215V 0.052 0.055 0.075 15 61 21 0.038 22 3 0 1 2 0.321 50858 chr9 112969745 112969745 T - rs201081105 C9orf152 I39Sfs*11 0.014 0.018 0.01 2 16 7 0.005 3 0 0 0 0 50859 chr9 113132221 113132221 G A rs17204533 SVEP1 Nonsynonymous SNV T3559M 0.101 0.107 0.109 52 119 41 0.133 32 12 3 1 4 25.1 50860 chr21 46117713 46117733 CCGCCCTGTGTGCAGACCCGC - rs782412662 KRTAP10-12 P201_R207del 0 0 0 0 0 0 0 0 0 0 0 0 50861 chr9 113192655 113192655 T G rs2986671 SVEP1 Nonsynonymous SNV E1810A 0.143 0.164 0.15 63 168 63 0.162 44 20 7 4 6 14.71 50862 chr9 113220820 113220820 C T rs10980398 SVEP1 Synonymous SNV A1169A 0.142 0.164 0.146 64 167 63 0.164 43 20 7 3 6 18.15 50863 chr9 113233720 113233720 G A rs10980402 SVEP1 Synonymous SNV A974A 0.138 0.161 0.146 62 162 62 0.159 43 19 7 4 5 9.256 50864 chr8 1900911 1900911 C T rs2272608 ARHGEF10 Synonymous SNV H1108H 0.101 0.107 0.099 37 119 41 0.095 29 6 2 0 3 10.93 50865 chr21 46363607 46363607 G A rs78520285 FAM207A Synonymous SNV A46A 0.014 0.026 0.017 4 17 10 0.01 5 0 0 0 0 5.268 50866 chr8 81399193 81399193 C A rs591989 ZBTB10 Nonsynonymous SNV P50T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 50867 chr9 104499916 104499916 C T rs111415222 GRIN3A Nonsynonymous SNV G116S 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 0.335 50868 chr9 111909340 111909340 G T FRRS1L Nonsynonymous SNV D202E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.3 50869 chr8 81399567 81399567 G A rs593747 ZBTB10 Nonsynonymous SNV M174I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 50870 chr8 21984596 21984596 C T rs78489044 HR Synonymous SNV S453S 0.011 0.003 0.01 3 13 1 0.008 3 0 0 0 0 Benign 0.387 50871 chr21 46875982 46875982 G A rs148957774 COL18A1 Nonsynonymous SNV A180T 0.019 0.013 0.014 4 22 5 0.01 4 0 0 0 0 0.002 50872 chr9 139345847 139345847 G A rs45519739 SEC16A Nonsynonymous SNV T2058M 0.015 0.018 0.01 11 18 7 0.028 3 1 0 0 0 Benign 7.987 50873 chr21 46876717 46876717 G C rs77180157 COL18A1 Nonsynonymous SNV G425R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 6.504 50874 chr21 46896294 46896294 G A rs2230686 COL18A1 Synonymous SNV A456A 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 Benign 10.7 50875 chr9 139370198 139370198 A G SEC16A Nonsynonymous SNV F624L 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 0.274 50876 chr9 114411891 114411891 C T rs1322259 DNAJC25 Synonymous SNV D216D 0.028 0.034 0.034 14 33 13 0.036 10 1 0 0 2 13.42 50877 chr21 46896303 46896303 C G rs2230687 COL18A1 Synonymous SNV P459P 0.113 0.102 0.119 43 133 39 0.11 35 5 1 0 2 Benign 10.68 50878 chr21 46896312 46896312 G T rs2230688 COL18A1 Synonymous SNV T462T 0.113 0.102 0.119 43 133 39 0.11 35 5 1 0 2 Benign 7.752 50879 chr21 46897801 46897801 G A rs2230689 COL18A1 Synonymous SNV A561A 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 5.991 50880 chr9 139378914 139378914 T C rs34376913 C9orf163 Nonsynonymous SNV L5P 0.118 0.109 0.143 50 139 42 0.128 42 31 8 2 7 22.1 50881 chr9 112900466 112900466 C T rs61735424 PALM2-AKAP2 Nonsynonymous SNV A739V 0.021 0.021 0.031 14 25 8 0.036 9 0 0 1 1 8.619 50882 chr20 61299525 61299525 G A rs34985812 SLCO4A1 Synonymous SNV T600T 0.061 0.078 0.068 23 72 30 0.059 20 1 2 1 1 12.73 50883 chr9 139399256 139399256 G A rs61751539 NOTCH1 Synonymous SNV H1629H 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 Benign/Likely benign 1.321 50884 chr9 107266964 107266964 T C rs747174068 OR13F1 Nonsynonymous SNV C141R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.1 50885 chr8 22436724 22436724 T G rs139396206 PDLIM2 Synonymous SNV G144G 0.012 0 0.007 3 14 0 0.008 2 1 0 0 0 11 50886 chr20 61391378 61391378 A G rs139953956 NTSR1 Nonsynonymous SNV Y339C 0.014 0.013 0.007 4 17 5 0.01 2 0 0 0 0 Benign 24.5 50887 chr9 114468966 114468966 A C rs7036568 SHOC1 Nonsynonymous SNV N770K 0.227 0.229 0.18 99 266 88 0.254 53 31 9 8 10 0.007 50888 chr21 46913477 46913477 G C rs2230693 COL18A1 Nonsynonymous SNV Q960H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 7.491 50889 chr9 114476748 114476748 T A rs11791445 SHOC1 Nonsynonymous SNV M695L 0.209 0.216 0.146 82 245 83 0.21 43 29 8 5 6 14.52 50890 chr9 139635348 139635348 C T rs144292696 LCN10 Nonsynonymous SNV G126S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 50891 chr20 61455823 61455823 C T rs150148851 COL9A3 Synonymous SNV P182P 0.015 0.013 0.007 4 18 5 0.01 2 0 0 0 0 Benign 17.41 50892 chr9 114484783 114484783 A G rs12352352 SHOC1 Synonymous SNV P576P 0.206 0.216 0.163 82 242 83 0.21 48 29 8 6 6 2.439 50893 chr8 144406174 144406174 C G rs143769145 TOP1MT Nonsynonymous SNV D221H 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 24.9 50894 chr21 46929331 46929331 C G rs187670025 COL18A1 Nonsynonymous SNV P1281R 0.008 0.005 0.027 2 9 2 0.005 8 0 0 0 0 24 50895 chr9 114490229 114490229 T G rs10512411 SHOC1 Synonymous SNV A403A 0.209 0.216 0.163 82 245 83 0.21 48 29 8 6 6 0.052 50896 chr8 87755776 87755776 T C rs35807406 CNGB3 Nonsynonymous SNV N27S 0.022 0.008 0.031 6 26 3 0.015 9 1 0 0 0 Conflicting interpretations of pathogenicity 0.001 50897 chr9 113704224 113704224 A G rs17788474 LPAR1 Synonymous SNV N90N 0.032 0.031 0.014 11 38 12 0.028 4 0 0 0 0 0.014 50898 chr9 115421605 115421605 C T rs61729758 KIAA1958 Synonymous SNV D469D 0.009 0.013 0.007 1 11 5 0.003 2 1 0 0 0 13.12 50899 chr8 90784979 90784979 T C rs2230801 RIPK2 Nonsynonymous SNV I259T 0.061 0.102 0.095 27 72 39 0.069 28 3 3 0 1 23.5 50900 chr9 115598629 115598629 T C rs200549970 SNX30 Nonsynonymous SNV F252L 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 24.8 50901 chr9 139744524 139744524 C T rs8666 PHPT1 Synonymous SNV L74L 0.052 0.044 0.048 18 61 17 0.046 14 1 0 0 0 17.46 50902 chr21 47423621 47423621 C T rs61735853 COL6A1 Synonymous SNV Y927Y 0.007 0.01 0.01 0 8 4 0 3 1 0 0 0 Benign 9.774 50903 chr9 115950114 115950114 C T rs45559933 FKBP15 Nonsynonymous SNV D448N 0.018 0.021 0.01 4 21 8 0.01 3 0 0 0 0 24.4 50904 chr8 144621294 144621294 C A rs146214248 ZC3H3 Synonymous SNV P81P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.39 50905 chr9 114508557 114508557 G A rs41306457 SHOC1 Nonsynonymous SNV R243C 0.025 0.026 0 4 29 10 0.01 0 0 0 0 0 0.314 50906 chr9 139836694 139836694 C T rs34391108 FBXW5 Synonymous SNV E300E 0.049 0.055 0.061 12 57 21 0.031 18 2 0 1 0 5.721 50907 chr8 21996453 21996453 C T rs79793560 REEP4 Nonsynonymous SNV R180Q 0.011 0.023 0 12 13 9 0.031 0 0 0 0 0 12.48 50908 chr9 115598610 115598610 A G rs76424583 SNX30 Nonsynonymous SNV I245M 0.078 0.044 0.068 35 92 17 0.09 20 3 0 0 3 0.003 50909 chr9 115600827 115600827 C T rs41280189 SNX30 Synonymous SNV S288S 0.078 0.044 0.068 35 92 17 0.09 20 3 0 0 3 10.58 50910 chr9 109687288 109687288 T C rs1000152 ZNF462 Synonymous SNV Y365Y 0.098 0.099 0.102 29 115 38 0.074 30 3 1 3 1 0.023 50911 chr20 61594943 61594943 G A rs151228610 SLC17A9 Nonsynonymous SNV V245I 0.016 0.008 0.003 4 19 3 0.01 1 0 0 0 0 0.002 50912 chr9 111617341 111617341 A G rs3750467 ACTL7B Synonymous SNV T290T 0.072 0.086 0.105 31 85 33 0.079 31 2 1 2 1 0.013 50913 chr9 111659439 111659439 T C rs2230794 ELP1 Nonsynonymous SNV I481M 0.043 0.039 0.048 25 51 15 0.064 14 2 0 1 0 Benign 9.679 50914 chr9 111659483 111659483 T G rs2230793 ELP1 Nonsynonymous SNV I467L 0.173 0.143 0.163 66 203 55 0.169 48 19 4 1 7 Benign 14.17 50915 chr21 47581423 47581423 C T rs14378 SPATC1L Nonsynonymous SNV S144N 0.113 0.122 0.116 41 133 47 0.105 34 13 2 3 3 Benign 15.79 50916 chr9 111660851 111660851 C T rs2230792 ELP1 Nonsynonymous SNV G416E 0.171 0.143 0.082 66 201 55 0.169 24 18 4 1 7 Benign 4.375 50917 chr21 47581835 47581835 C T rs113710653 SPATC1L Nonsynonymous SNV E77K 0.111 0.12 0.092 40 130 46 0.103 27 13 3 2 2 Benign 23.3 50918 chr9 111679872 111679872 G A rs12340246 ELP1 Synonymous SNV L159L 0.037 0.029 0.048 17 43 11 0.044 14 2 0 1 0 Benign 10.3 50919 chr9 116764283 116764283 C T rs4978561 ZNF618 Synonymous SNV Y115Y 0.194 0.234 0.235 82 228 90 0.21 69 25 6 12 13 6.242 50920 chr21 47581949 47581949 C T rs113146399 SPATC1L Nonsynonymous SNV A39T 0.111 0.12 0.092 40 130 46 0.103 27 13 3 2 2 Benign 22.6 50921 chr9 116770776 116770776 C T rs3748183 ZNF618 Synonymous SNV V200V 0.187 0.221 0.228 78 219 85 0.2 67 24 5 11 13 17.53 50922 chr8 144680857 144680857 G A rs141914327 TIGD5 Nonsynonymous SNV G262R 0.032 0.034 0.078 12 37 13 0.031 23 0 3 1 1 0.663 50923 chr9 116770785 116770785 G A rs3748182 ZNF618 Synonymous SNV T203T 0.187 0.221 0.228 78 219 85 0.2 67 24 5 11 13 14.03 50924 chr9 111938926 111938926 C T rs10979729 EPB41L4B Synonymous SNV P846P 0.038 0.034 0.041 23 45 13 0.059 12 2 0 1 0 15.82 50925 chr8 144696808 144696808 G A rs148151871 TSTA3 Synonymous SNV I156I 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 17.36 50926 chr9 112145799 112145799 G A rs2304742 PTPN3 Synonymous SNV P430P 0.03 0.031 0.014 8 35 12 0.021 4 0 1 0 0 5.958 50927 chr8 23002090 23002090 C T rs55636833 TNFRSF10D Nonsynonymous SNV R276H 0.035 0.052 0.024 5 41 20 0.013 7 0 1 0 0 8.92 50928 chr9 116186544 116186544 A G rs41313331 C9orf43 Nonsynonymous SNV D252G 0.061 0.065 0.071 23 72 25 0.059 21 3 1 1 1 24 50929 chr8 25227115 25227115 G C DOCK5 Nonsynonymous SNV G1161A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 50930 chr20 62187517 62187517 G A rs734751 FNDC11 Synonymous SNV S167S 0.017 0.021 0.017 8 20 8 0.021 5 1 0 0 0 3.409 50931 chr9 140066471 140066471 G A rs774561193 TMEM210 Synonymous SNV P3P 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 5.01 50932 chr9 116222555 116222555 C T rs113797410 RGS3 Nonsynonymous SNV L7F 0.049 0.057 0 21 58 22 0.054 0 2 1 0 1 0.633 50933 chr12 9072399 9072399 C T rs140650800 PHC1 Synonymous SNV H54H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.41 50934 chr9 116279880 116279880 T C rs35270441 RGS3 Synonymous SNV Y297Y 0.053 0.06 0.065 21 62 23 0.054 19 2 1 1 1 0.339 50935 chr9 116291514 116291514 C T rs34682731 RGS3 Synonymous SNV D347D 0.048 0.029 0.027 13 56 11 0.033 8 1 0 0 0 12.79 50936 chr9 140123132 140123132 C G rs6606565 RNF224 Nonsynonymous SNV T22R 0.359 0.346 0.323 120 422 133 0.308 95 88 29 12 17 0.007 50937 chr9 116345968 116345968 C T rs140906223 RGS3 Nonsynonymous SNV P80L 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Benign 13.26 50938 chr9 116346118 116346118 G A rs41305473 RGS3 Nonsynonymous SNV R130Q 0.054 0.06 0.068 20 63 23 0.051 20 2 1 2 1 9.454 50939 chr9 116346236 116346236 G A rs41301525 RGS3 Synonymous SNV A169A 0.054 0.06 0.065 20 63 23 0.051 19 2 1 1 1 9.537 50940 chr8 99045866 99045866 G A rs17831160 MATN2 Nonsynonymous SNV V891I 0.018 0.021 0.024 10 21 8 0.026 7 1 1 0 0 24.7 50941 chr8 144886809 144886809 C T rs11542374 SCRIB Nonsynonymous SNV G980R 0.032 0.036 0.051 16 37 14 0.041 15 1 1 0 1 22.9 50942 chr9 140166597 140166597 G A rs61751916 NELFB Synonymous SNV A518A 0.014 0.016 0.027 5 17 6 0.013 8 0 0 0 0 10.58 50943 chr9 113308525 113308525 T A rs41305611 SVEP1 Synonymous SNV S278S 0.086 0.109 0.112 54 101 42 0.138 33 5 1 2 3 5.005 50944 chr9 116356776 116356776 C T rs61749208 RGS3 Synonymous SNV P19P 0.049 0.057 0.058 21 58 22 0.054 17 2 1 1 1 11.31 50945 chr8 23560484 23560484 G T rs143039156 NKX2-6 Nonsynonymous SNV A129E 0.019 0.031 0.017 5 22 12 0.013 5 1 0 0 0 Benign 7.59 50946 chr8 144940290 144940290 C G rs201976887 EPPK1 Nonsynonymous SNV D2378H 0.014 0.026 0.003 9 17 10 0.023 1 0 0 0 0 28.4 50947 chr8 24167472 24167472 - A rs570442888 ADAM28 Frameshift insertion N75Kfs*15 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 50948 chr21 48081768 48081768 C T rs143321526 PRMT2 Synonymous SNV F237F 0.02 0.023 0.024 7 24 9 0.018 7 1 0 0 0 14.68 50949 chr9 116810204 116810204 G A rs12378906 ZNF618 Synonymous SNV Q393Q 0.115 0.104 0.146 50 135 40 0.128 43 9 3 2 2 10.23 50950 chr9 116812084 116812084 C T rs7856141 ZNF618 Synonymous SNV N801N 0.115 0.102 0.143 50 135 39 0.128 42 9 3 2 2 4.883 50951 chr8 144942321 144942321 C T rs199604236 EPPK1 Nonsynonymous SNV V1701M 0.004 0.013 0.007 4 5 5 0.01 2 0 0 0 0 27.1 50952 chr9 140327663 140327663 C T rs34155071 NOXA1 Nonsynonymous SNV P230L 0.309 0.331 0.255 116 363 127 0.297 75 57 22 17 16 0.045 50953 chr22 17625915 17625915 G A rs35665085 HDHD5 Nonsynonymous SNV T149M 0.051 0.076 0.041 32 60 29 0.082 12 2 1 1 1 21 50954 chr8 144990784 144990784 G A rs113513807 PLEC Nonsynonymous SNV T4388M 0.023 0.042 0.01 15 27 16 0.038 3 1 0 0 1 Benign 4.72 50955 chr20 62322290 62322290 G A rs190887884 RTEL1 Nonsynonymous SNV G626D 0.016 0.013 0.007 4 19 5 0.01 2 0 0 0 0 Benign/Likely benign 10.29 50956 chr8 144993931 144993931 C G rs35261863 PLEC Nonsynonymous SNV G3339A 0.012 0.034 0.007 3 14 13 0.008 2 0 0 0 0 Benign 24.2 50957 chr9 101068580 101068580 G A rs2304389 GABBR2 Synonymous SNV P684P 0.23 0.19 0.194 89 270 73 0.228 57 43 11 4 17 10.66 50958 chr12 94955585 94955585 T C rs12314280 MIR5700 0 0 0.088 0 0 0 0 26 0 0 1 0 2.301 50959 chr9 118950208 118950208 G T rs80284365 PAPPA Synonymous SNV V397V 0.016 0.016 0.014 8 19 6 0.021 4 1 0 0 0 3.247 50960 chr12 94955607 94955607 G T rs75258105 MIR5700 0 0 0.078 0 0 0 0 23 0 0 1 0 10.63 50961 chr8 26627672 26627672 T A rs2229126 ADRA1A Nonsynonymous SNV E465D 0.041 0.039 0.041 11 48 15 0.028 12 1 0 0 1 18.55 50962 chr9 116085423 116085423 G A rs10817479 WDR31 Nonsynonymous SNV P113S 0.079 0.057 0.058 22 93 22 0.056 17 5 0 0 0 1.186 50963 chr9 14662260 14662260 A G rs17215796 ZDHHC21 Synonymous SNV C9C 0.145 0.133 0.15 52 170 51 0.133 44 18 2 1 3 1.492 50964 chr22 19175213 19175213 C T rs55790642 CLTCL1 Nonsynonymous SNV D1488N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 50965 chr20 62493175 62493175 - GGCCAGCTCGCTAGCTACGCGCT rs539544290 ABHD16B Frameshift insertion H104Sfs*23 0.015 0.018 0.007 5 18 7 0.013 2 0 0 0 0 50966 chr8 2807783 2807783 G A rs35043129 CSMD1 Synonymous SNV F3428F 0.127 0.102 0.143 53 149 39 0.136 42 13 2 4 2 12.41 50967 chr9 117185705 117185705 C T rs34252199 WHRN Synonymous SNV A154A 0.032 0.044 0.044 17 37 17 0.044 13 0 0 1 1 Benign/Likely benign 18.28 50968 chr9 117429019 117429019 A G rs16930732 TEX48 Synonymous SNV N89N 0.04 0.029 0.041 7 47 11 0.018 12 4 0 0 1 1.8 50969 chr8 28707739 28707739 G A rs138508020 INTS9 Synonymous SNV F63F 0.009 0.003 0.007 5 11 1 0.013 2 0 0 0 0 12.04 50970 chr9 104125056 104125056 A G rs61755096 BAAT Nonsynonymous SNV V304A 0.053 0.036 0.037 17 62 14 0.044 11 1 0 0 0 Benign 0.001 50971 chr9 15214193 15214193 T C rs75713085 TTC39B Synonymous SNV A142A 0.017 0.008 0.017 9 20 3 0.023 5 0 0 0 0 10.51 50972 chr9 116967405 116967405 G T rs13290696 COL27A1 Synonymous SNV P716P 0.107 0.102 0.146 29 126 39 0.074 43 6 2 2 1 13.84 50973 chr9 15564100 15564100 C T rs117579945 CCDC171 Nonsynonymous SNV T5I 0.032 0.018 0.024 15 37 7 0.038 7 0 0 0 0 4.841 50974 chr9 104171523 104171523 A G rs45455902 ZNF189 Synonymous SNV K477K 0.095 0.094 0.065 30 111 36 0.077 19 2 1 0 2 0.063 50975 chr9 16215880 16215880 G T C9orf92 Nonsynonymous SNV P27Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.11 50976 chr9 104171856 104171856 C T rs17772514 ZNF189 Synonymous SNV D588D 0.095 0.094 0.065 29 111 36 0.074 19 2 1 0 2 10.67 50977 chr9 104335682 104335682 C T rs3739722 GRIN3A Nonsynonymous SNV R1041Q 0.095 0.102 0.092 41 111 39 0.105 27 6 4 0 2 12.13 50978 chr9 117143550 117143550 G A rs377546210 AKNA Nonsynonymous SNV R22W 0.006 0 0 0 7 0 0 0 0 0 0 0 21.9 50979 chr12 98849314 98849314 A T rs12827746 SLC9A7P1 0 0 0.078 0 0 0 0 23 0 0 0 0 11.97 50980 chr12 98909696 98909696 G A rs766680931 TMPO Synonymous SNV K17K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 50981 chr22 20939400 20939400 G A rs61741073 MED15 Synonymous SNV V548V 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 0.488 50982 chr9 119461275 119461275 G A rs1661300 TRIM32 Synonymous SNV V418V 0.112 0.13 0.116 53 131 50 0.136 34 6 2 3 4 Benign 5.788 50983 chr9 19087154 19087154 T C rs7875404 HAUS6 Synonymous SNV Q195Q 0.096 0.112 0.116 42 113 43 0.108 34 4 3 2 2 6.529 50984 chr9 19290794 19290794 A C rs41269019 DENND4C Nonsynonymous SNV I241L 0.021 0.016 0.02 6 25 6 0.015 6 0 0 0 0 27 50985 chr22 21330794 21330794 C T rs961355962 AIFM3 Nonsynonymous SNV R333C 0 0.003 0 4 0 1 0.01 0 0 0 0 0 28.6 50986 chr21 19716336 19716336 C G TMPRSS15 Nonsynonymous SNV E405Q 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 15.48 50987 chr13 100543648 100543648 C T rs34411915 CLYBL Nonsynonymous SNV T335I 0.017 0.023 0.017 7 20 9 0.018 5 0 0 0 0 18.12 50988 chr9 121930307 121930307 G A rs1043379 BRINP1 Synonymous SNV C447C 0.094 0.081 0.065 44 110 31 0.113 19 5 2 1 1 5.648 50989 chr8 30938704 30938704 G A rs1800391 WRN Nonsynonymous SNV M387I 0.106 0.099 0.088 35 124 38 0.09 26 6 3 1 0 Benign 9.68 50990 chr13 103288025 103288025 A G TPP2 Synonymous SNV V494V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 50991 chr8 3047495 3047495 G C rs35125470 CSMD1 Synonymous SNV L1779L 0.005 0.003 0.007 2 6 1 0.005 2 1 0 0 0 5.557 50992 chr9 123929770 123929770 C T rs61745682 CNTRL Synonymous SNV L1335L 0.16 0.164 0.15 58 188 63 0.149 44 18 4 2 7 10.95 50993 chr9 214908 214908 T C rs62533313 DOCK8-AS1 0.083 0.104 0.105 31 97 40 0.079 31 6 3 3 1 Benign/Likely benign 0.832 50994 chr13 103384712 103384712 G A rs17507827 CCDC168 Nonsynonymous SNV T6112M 0.026 0.039 0.054 13 31 15 0.033 16 0 0 0 0 10.84 50995 chr9 123945219 123945219 C T rs140790437 RAB14 Synonymous SNV A153A 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 17.59 50996 chr9 124103523 124103523 A G rs41273438 STOM Nonsynonymous SNV M110T 0.031 0.049 0.037 18 36 19 0.046 11 1 0 0 0 23.6 50997 chr9 117853103 117853103 C T rs10982521 TNC Synonymous SNV S65S 0.034 0.036 0.041 19 40 14 0.049 12 1 0 1 0 15.58 50998 chr8 35647960 35647960 A G rs143876791 UNC5D Nonsynonymous SNV D909G 0 0 0 2 0 0 0.005 0 0 0 0 0 29.4 50999 chr9 107556793 107556793 - AAA rs377469216 ABCA1 0.173 0.172 0.112 76 203 66 0.195 33 48 19 10 17 51000 chr8 37555338 37555338 C T rs79707182 ZNF703 Nonsynonymous SNV P307S 0.015 0.013 0.017 17 18 5 0.044 5 0 0 0 0 26.7 51001 chr9 125273574 125273574 G A rs4836891 OR1J2 Nonsynonymous SNV R165Q 0.083 0.086 0.105 42 97 33 0.108 31 3 3 0 3 0.011 51002 chr9 119491277 119491277 C T rs72765708 ASTN2 Nonsynonymous SNV A823T 0.11 0.086 0.099 49 129 33 0.126 29 6 1 1 5 24.5 51003 chr13 103388015 103388015 C G rs17507841 CCDC168 Nonsynonymous SNV G5011A 0.036 0.047 0.048 15 42 18 0.038 14 0 0 0 0 0.011 51004 chr21 30339234 30339234 T C rs61735768 LTN1 Nonsynonymous SNV S527G 0.151 0.148 0.15 60 177 57 0.154 44 14 6 1 8 8.855 51005 chr9 2622147 2622155 CGGCGGCGG - rs369552432 VLDLR-AS1 0.296 0.315 0.194 101 348 121 0.259 57 87 35 20 21 51006 chr9 125315542 125315542 C T rs1831369 OR1N2 Synonymous SNV L18L 0.263 0.268 0.245 101 309 103 0.259 72 38 14 8 13 13.83 51007 chr9 2622155 2622155 - CGG VLDLR-AS1 0.08 0.086 0 42 94 33 0.108 0 0 0 0 0 51008 chr9 120475302 120475302 A G rs4986790 TLR4 Nonsynonymous SNV D99G 0.054 0.034 0.048 18 63 13 0.046 14 0 0 1 0 Benign 6.513 51009 chr9 109773145 109773145 A T rs10217192 ZNF462 Nonsynonymous SNV H1587L 0.075 0.073 0.085 32 88 28 0.082 25 4 1 2 0 21.8 51010 chr9 120475602 120475602 C T rs4986791 TLR4 Nonsynonymous SNV T199I 0.06 0.036 0.048 22 71 14 0.056 14 1 0 1 0 Benign 12.86 51011 chr9 111625629 111625629 C G rs56031956 ACTL7A Nonsynonymous SNV L343V 0.032 0.026 0.034 16 38 10 0.041 10 1 0 1 0 23.6 51012 chr9 27455135 27455135 G A rs34959338 MOB3B Synonymous SNV C138C 0.182 0.219 0.194 67 214 84 0.172 57 20 9 5 8 8.464 51013 chr9 111637230 111637230 A C rs61749202 ELP1 Synonymous SNV T943T 0.034 0.039 0.014 9 40 15 0.023 4 0 0 0 0 Conflicting interpretations of pathogenicity 3.845 51014 chr9 2804393 2804393 A G rs12171 PUM3 Synonymous SNV L629L 0.072 0.076 0.058 32 85 29 0.082 17 2 0 0 3 3.393 51015 chr8 37623076 37623076 G A rs202002761 PLPBP Synonymous SNV A44A 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 Likely benign 14.11 51016 chr9 125330184 125330184 A C rs10985702 OR1L8 Synonymous SNV S191S 0.334 0.323 0.303 125 392 124 0.321 89 63 21 13 19 0.145 51017 chr9 125330325 125330325 C G rs10985703 OR1L8 Synonymous SNV L144L 0.279 0.281 0.272 98 328 108 0.251 80 41 16 12 13 8.888 51018 chr9 3228881 3228881 A C rs769588827 RFX3 Nonsynonymous SNV D659E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.8 51019 chr9 12694274 12694274 G A rs61752937 TYRP1 Nonsynonymous SNV R93H 0.002 0.008 0.02 0 2 3 0 6 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 51020 chr8 38854660 38854660 C A rs148707472 ADAM9 Synonymous SNV V26V 0.061 0.06 0.068 32 72 23 0.082 20 3 1 0 0 Benign 20.3 51021 chr9 127118932 127118932 G A rs117300833 LOC100129034 0.065 0.068 0.051 19 76 26 0.049 15 5 2 0 0 7.611 51022 chr9 32526146 32526146 G A rs10813831 DDX58 Nonsynonymous SNV R7C 0.24 0.237 0.248 102 282 91 0.262 73 30 11 10 17 23.6 51023 chr9 123762321 123762321 G A rs10733649 C5 Synonymous SNV A857A 0.16 0.182 0.065 88 188 70 0.226 19 76 28 9 36 1.087 51024 chr9 112151621 112151621 G A rs140802922 PTPN3 Synonymous SNV I383I 0.013 0.013 0.007 5 15 5 0.013 2 0 0 0 0 Benign 13.83 51025 chr8 39785446 39785446 G A rs75174100 IDO1 Synonymous SNV E318E 0.005 0.013 0.003 5 6 5 0.013 1 0 0 0 0 Benign 6.871 51026 chr9 123762323 123762323 C A rs139479771 C5 Nonsynonymous SNV A857S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.61 51027 chr9 32541532 32541532 A G rs12348918 TOPORS Synonymous SNV D932D 0.229 0.203 0.224 95 269 78 0.244 66 26 8 8 15 Benign 0.932 51028 chr9 32632290 32632290 C T rs56320744 TAF1L Synonymous SNV L1096L 0.065 0.068 0.051 37 76 26 0.095 15 2 0 0 1 13.64 51029 chr9 32635389 32635389 C T rs55895024 TAF1L Synonymous SNV K63K 0.032 0.013 0.027 10 37 5 0.026 8 0 0 0 0 8.115 51030 chr9 112182779 112182779 A G PTPN3 Nonsynonymous SNV F81S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 51031 chr21 33691527 33691527 C T rs183045720 URB1 Nonsynonymous SNV R1931K 0.009 0.018 0.007 5 10 7 0.013 2 0 0 0 0 Benign 32 51032 chr13 108518444 108518444 G A rs1771137 FAM155A Synonymous SNV R167R 0.101 0.128 0.078 45 118 49 0.115 23 7 4 0 2 4.422 51033 chr21 33691546 33691546 C T rs62620710 URB1 Nonsynonymous SNV V1925M 0.014 0.023 0.024 6 17 9 0.015 7 0 0 0 0 15.25 51034 chr9 123914874 123914874 C T rs9408926 CNTRL Synonymous SNV L807L 0.038 0.026 0.058 14 45 10 0.036 17 0 0 1 0 13.16 51035 chr9 127764305 127764305 G A rs764304 SCAI Synonymous SNV S361S 0.216 0.188 0.221 81 253 72 0.208 65 35 5 8 6 12.57 51036 chr9 34125258 34125258 C G rs61735450 DCAF12 Synonymous SNV S32S 0.028 0.042 0.02 5 33 16 0.013 6 0 0 0 0 13.84 51037 chr9 34257979 34257979 C T rs76547823 KIF24 Synonymous SNV R542R 0.02 0 0.014 3 23 0 0.008 4 0 0 0 0 15.91 51038 chr9 125289033 125289033 A G rs41277122 OR1N1 Synonymous SNV T180T 0.095 0.109 0.082 34 111 42 0.087 24 8 4 1 1 0.197 51039 chr8 17447194 17447194 T G rs144184958 PDGFRL Synonymous SNV T91T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.72 51040 chr8 41791283 41791283 G A rs3739365 KAT6A Synonymous SNV S1485S 0.078 0.073 0.075 42 91 28 0.108 22 3 1 0 1 Benign 13.25 51041 chr9 34895598 34895598 A C rs276671 FAM205C Nonsynonymous SNV V41G 0.224 0.24 0 74 263 92 0.19 0 26 13 0 10 10.26 51042 chr8 41798417 41798417 C T rs3824275 KAT6A Synonymous SNV P994P 0.078 0.073 0.082 42 91 28 0.108 24 3 1 1 1 Benign 14.19 51043 chr8 17513414 17513414 G A rs12224 MTUS1 Synonymous SNV Y94Y 0.098 0.07 0.092 24 115 27 0.062 27 7 0 1 1 2.659 51044 chr8 41906095 41906095 A G rs3824276 KAT6A Nonsynonymous SNV L134S 0.078 0.073 0.082 42 91 28 0.108 24 3 1 1 1 Benign 8.934 51045 chr9 130207072 130207072 G A rs151218737 ZNF79 Nonsynonymous SNV A231T 0.016 0.016 0.014 6 19 6 0.015 4 0 0 0 0 16.35 51046 chr9 113562649 113562649 A G rs55963442 MUSK Nonsynonymous SNV N244S 0.009 0.01 0.014 3 10 4 0.008 4 0 0 1 0 Benign 23.5 51047 chr9 35089403 35089403 G A rs2298314 PIGO Synonymous SNV L1038L 0.041 0.026 0.027 20 48 10 0.051 8 1 1 0 0 Benign 11.95 51048 chr22 25301142 25301142 A G rs61742274 SGSM1 Nonsynonymous SNV I875V 0.028 0.023 0.024 4 33 9 0.01 7 0 1 0 0 22.5 51049 chr8 42720581 42720581 C T rs144435181 RNF170 Nonsynonymous SNV S125N 0.018 0.026 0.003 4 21 10 0.01 1 1 0 0 0 Benign/Likely benign 14.67 51050 chr22 25570414 25570414 C T rs151143067 KIAA1671 Synonymous SNV D1619D 0.013 0.013 0.031 7 15 5 0.018 9 0 0 0 0 10.66 51051 chr21 35893642 35893642 A G rs11700452 RCAN1 Synonymous SNV C192C 0.097 0.096 0.099 49 114 37 0.126 29 8 1 3 2 7.311 51052 chr9 35706058 35706058 G A rs35017866 TLN1 Synonymous SNV T1804T 0.014 0.039 0.017 7 17 15 0.018 5 0 0 0 0 11.87 51053 chr8 54742078 54742078 T C rs140317372 ATP6V1H Nonsynonymous SNV I78V 0.022 0.018 0.003 7 26 7 0.018 1 0 0 0 0 13.45 51054 chr8 51569543 51569543 G A rs79666619 SNTG1 Synonymous SNV L308L 0.006 0.013 0.007 1 7 5 0.003 2 0 0 0 0 1.483 51055 chr8 55372067 55372067 T A rs975070450 SOX17 Nonsynonymous SNV Y253N 0.014 0.016 0 7 17 6 0.018 0 0 0 0 0 24.8 51056 chr13 113771900 113771973 CGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGAC - F7 I181Mfs*12 0.001 0 0.007 0 1 0 0 2 0 0 0 0 51057 chr9 126135831 126135831 T C rs7848449 CRB2 Synonymous SNV A1007A 0.132 0.076 0.133 38 155 29 0.097 39 9 1 4 0 0.925 51058 chr9 126135936 126135936 G C rs2488600 CRB2 Synonymous SNV A1042A 0.204 0.169 0.207 67 240 65 0.172 61 23 6 9 3 3.343 51059 chr9 130507125 130507125 T C rs2233512 SH2D3C Synonymous SNV R348R 0.014 0.018 0.017 5 16 7 0.013 5 0 0 0 0 1.486 51060 chr8 52321686 52321686 C T rs11985241 PXDNL Nonsynonymous SNV S833N 0.095 0.073 0.153 25 112 28 0.064 45 5 2 4 2 11.24 51061 chr9 368128 368128 C T rs17673268 DOCK8 Nonsynonymous SNV A529V 0.072 0.065 0.037 37 85 25 0.095 11 4 2 2 0 Benign 30 51062 chr8 52321843 52321843 G C rs11992240 PXDNL Nonsynonymous SNV R781G 0.095 0.076 0.153 25 112 29 0.064 45 5 2 4 2 24.1 51063 chr22 26423161 26423161 G A rs201666386 MYO18B Synonymous SNV Q2408Q 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 Benign 10.51 51064 chr8 52325767 52325767 T G rs16916207 PXDNL Nonsynonymous SNV D616A 0.096 0.073 0.153 24 113 28 0.062 45 5 2 4 1 22.2 51065 chr22 26688838 26688838 C T rs17304075 SEZ6L Synonymous SNV D187D 0.08 0.089 0.105 33 94 34 0.085 31 5 1 3 0 7.253 51066 chr22 26689105 26689105 G A rs17395296 SEZ6L Synonymous SNV Q276Q 0.079 0.086 0.102 33 93 33 0.085 30 5 1 2 0 5.21 51067 chr13 114324067 114324067 T C rs748614557 GRK1 Synonymous SNV Y255Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 51068 chr13 114453605 114453605 - TGTGTGTGCACG rs377161094 LINC00552 0 0 0.037 0 0 0 0 11 0 0 0 0 51069 chr9 114886569 114886569 C T rs146879704 SUSD1 Nonsynonymous SNV G285D 0.01 0.013 0.01 11 12 5 0.028 3 0 0 0 0 29.1 51070 chr9 37489378 37489378 C T rs11542231 POLR1E Nonsynonymous SNV T7I 0.176 0.164 0.224 69 207 63 0.177 66 21 4 6 6 12.5 51071 chr22 26706780 26706780 C T rs140029399 SEZ6L Synonymous SNV S553S 0.015 0.01 0.017 5 18 4 0.013 5 0 0 0 0 Benign 10.9 51072 chr9 37492367 37492367 C T rs10758433 POLR1E Nonsynonymous SNV T43I 0.098 0.096 0.078 31 115 37 0.079 23 7 3 0 1 8.932 51073 chr8 18730030 18730030 C A rs118013117 PSD3 Nonsynonymous SNV R82I 0.029 0.023 0.058 11 34 9 0.028 17 0 0 0 0 16.89 51074 chr9 37492679 37492679 G T rs3739576 POLR1E Synonymous SNV A123A 0.199 0.177 0.197 71 234 68 0.182 58 28 8 5 4 8.529 51075 chr9 37493588 37493588 C T rs10758434 POLR1E Synonymous SNV T145T 0.201 0.177 0.197 71 236 68 0.182 58 28 8 5 4 15.48 51076 chr9 130941451 130941451 C T rs45536439 CIZ1 Synonymous SNV A321A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 20.3 51077 chr9 37500895 37500895 T C rs2277161 POLR1E Synonymous SNV T315T 0.201 0.177 0.204 71 236 68 0.182 60 28 8 5 4 7.895 51078 chr9 130948018 130948018 G A rs45545033 CIZ1 Synonymous SNV L108L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.52 51079 chr9 37503087 37503087 G A rs10814571 POLR1E Nonsynonymous SNV R383K 0.201 0.177 0.194 71 236 68 0.182 57 28 8 5 4 0.793 51080 chr9 131186549 131186549 C G rs146651928 CERCAM Nonsynonymous SNV Q109E 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 22.9 51081 chr9 125637636 125637636 C T rs1046693791 RC3H2 Nonsynonymous SNV R446H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.023 51082 chr21 39775558 39775558 G A rs17230484 ERG Synonymous SNV D62D 0.035 0.026 0.031 9 41 10 0.023 9 0 0 0 0 5.908 51083 chr13 20657120 20657120 C T rs139017565 ZMYM2 Synonymous SNV N1256N 0.009 0.005 0.014 3 10 2 0.008 4 0 0 0 0 Benign 9.528 51084 chr8 59508166 59508166 A G rs149564750 NSMAF Synonymous SNV N646N 0.018 0.023 0.007 2 21 9 0.005 2 0 0 0 0 8.238 51085 chr8 61778137 61778137 C T rs113938624 CHD7 Nonsynonymous SNV P831L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 51086 chr8 2033495 2033495 G C rs137923713 MYOM2 Nonsynonymous SNV K539N 0.013 0.018 0.003 8 15 7 0.021 1 1 0 0 1 24 51087 chr22 26937087 26937087 C A rs5761587 TPST2 Synonymous SNV S170S 0.06 0.063 0.068 34 70 24 0.087 20 0 1 1 0 11.88 51088 chr8 2037833 2037833 G C rs2294061 MYOM2 Synonymous SNV S549S 0.193 0.146 0.17 74 226 56 0.19 50 18 4 6 10 0.862 51089 chr22 27003957 27003957 G A rs147206089 CRYBB1 Nonsynonymous SNV R110C 0.007 0.005 0.01 4 8 2 0.01 3 0 0 0 0 Benign 22.9 51090 chr8 63938764 63938764 G A rs11545078 GGH Nonsynonymous SNV T151I 0.116 0.12 0.082 51 136 46 0.131 24 8 3 0 5 23 51091 chr8 6302106 6302106 C A rs35590577 MCPH1 Nonsynonymous SNV P240H 0.039 0.031 0.01 15 46 12 0.038 3 0 0 0 0 Benign 25.1 51092 chr9 38397154 38397154 T C rs61741825 ALDH1B1 Nonsynonymous SNV V470A 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 Uncertain significance 25.9 51093 chr22 29446695 29446695 G A rs55962108 ZNRF3 Synonymous SNV L842L 0.018 0.026 0.017 6 21 10 0.015 5 0 0 0 0 5.77 51094 chr9 126146138 126146138 T C rs2808410 DENND1A Synonymous SNV A555A 0.032 0.036 0.034 6 38 14 0.015 10 0 0 1 0 4.944 51095 chr8 6302671 6302671 C T rs2920676 MCPH1 Synonymous SNV F428F 0.043 0.042 0.014 16 50 16 0.041 4 0 0 0 0 Benign 7.276 51096 chr9 131515516 131515516 C A rs140371798 ZER1 Nonsynonymous SNV V225L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16.29 51097 chr8 65494007 65494007 - AGCGGC rs763704164 BHLHE22 G224_G225insSG 0.142 0.133 0.112 43 167 51 0.11 33 8 4 2 2 51098 chr8 21608105 21608105 C G rs2229903 GFRA2 Synonymous SNV L130L 0.014 0.01 0.003 3 16 4 0.008 1 0 0 0 0 5.271 51099 chr13 23907404 23907404 T C rs137856939 SACS Synonymous SNV A3390A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.085 51100 chr8 6389889 6389889 C G rs6559167 ANGPT2 Synonymous SNV A136A 0.261 0.26 0.126 128 307 100 0.328 37 38 14 4 18 Likely benign 9.214 51101 chr22 30125188 30125188 G A rs145496920 CABP7 Nonsynonymous SNV D171N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.2 51102 chr9 117130757 117130757 G A rs765817954 AKNA Nonsynonymous SNV P393L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.332 51103 chr22 30415581 30415581 C T rs138823197 MTMR3 Nonsynonymous SNV R645W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 51104 chr9 131670457 131670457 T C rs3750320 LRRC8A Synonymous SNV Y338Y 0.279 0.281 0.279 109 327 108 0.279 82 40 18 10 18 Benign 0.002 51105 chr8 67417718 67417718 G T rs61736270 VXN Nonsynonymous SNV A79S 0.067 0.07 0.071 34 79 27 0.087 21 2 1 0 1 5.77 51106 chr21 42824661 42824661 A G rs1050008 MX1 Synonymous SNV A541A 0.12 0.115 0.105 58 141 44 0.149 31 4 5 1 5 1.788 51107 chr13 24845039 24845039 G A rs200155235 SPATA13 Nonsynonymous SNV S15N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 51108 chr21 42830690 42830690 A G rs1557370 MX1 Synonymous SNV T503T 0.09 0.076 0.082 44 106 29 0.113 24 1 4 1 4 8.77 51109 chr8 21977669 21977669 C T rs778897268 HR Nonsynonymous SNV E932K 0.004 0.008 0 0 5 3 0 0 0 0 0 0 24 51110 chr9 129642097 129642097 C G ZBTB34 Nonsynonymous SNV S136C 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 51111 chr9 130674756 130674756 G C rs35701259 ST6GALNAC4 Synonymous SNV R50R 0.024 0.031 0.037 15 28 12 0.038 11 0 0 0 1 7.547 51112 chr9 131862805 131862805 G A rs1127926 CRAT Synonymous SNV F323F 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Benign 15.84 51113 chr13 25255765 25255765 G C ATP12A Synonymous SNV G25G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.52 51114 chr13 25255788 25255788 G C ATP12A Nonsynonymous SNV G33A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.571 51115 chr8 67986493 67986493 - G CSPP1 Frameshift insertion D3Gfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 51116 chr13 25272826 25272826 G A rs61740542 ATP12A Nonsynonymous SNV G521S 0.01 0.01 0.014 1 12 4 0.003 4 0 0 0 0 17.36 51117 chr13 25280563 25280563 C A rs61998252 ATP12A Nonsynonymous SNV Q717K 0.01 0.013 0.014 1 12 5 0.003 4 0 0 0 0 32 51118 chr9 132382596 132382596 C A rs111606531 C9orf50 Synonymous SNV A86A 0.045 0.039 0.092 18 53 15 0.046 27 12 3 3 4 14.77 51119 chr9 117803271 117803271 C T rs2274750 TNC Nonsynonymous SNV A1781T 0.026 0.029 0.02 6 31 11 0.015 6 1 1 0 0 Benign 33 51120 chr8 70594420 70594420 C A rs34698405 SLCO5A1 Nonsynonymous SNV G539V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.5 51121 chr9 131020153 131020153 T C rs929092003 GOLGA2 Nonsynonymous SNV M804V 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 22.3 51122 chr8 22146113 22146113 A G rs139570286 PIWIL2 Nonsynonymous SNV Q307R 0.016 0.023 0 1 19 9 0.003 0 0 0 0 0 15.09 51123 chr22 31059458 31059458 T C rs764799988 DUSP18 Nonsynonymous SNV Y178C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 51124 chr8 22422794 22422794 G C SORBS3 Nonsynonymous SNV R277T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 25.6 51125 chr9 132719648 132719648 A G rs62637589 FNBP1 Synonymous SNV D168D 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.691 51126 chr9 131115368 131115368 A G rs111417655 SLC27A4 Nonsynonymous SNV N351S 0.072 0.047 0.048 16 85 18 0.041 14 2 1 0 1 not provided 0.004 51127 chr8 22428590 22428590 G A rs11543182 SORBS3 Synonymous SNV L191L 0.014 0.023 0.007 1 17 9 0.003 2 0 0 0 0 Benign 3.231 51128 chr13 26625047 26625047 G A rs4770911 SHISA2 Synonymous SNV L23L 0.131 0.138 0.194 65 154 53 0.167 57 21 8 8 11 11.25 51129 chr8 72936145 72936145 T C rs959976 TRPA1 Nonsynonymous SNV H1018R 0.223 0.224 0.129 71 262 86 0.182 38 32 13 6 5 0.001 51130 chr8 72963071 72963071 G T TRPA1 Nonsynonymous SNV S616Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 51131 chr9 119028233 119028233 A C rs117124330 PAPPA Nonsynonymous SNV S944R 0.022 0.029 0.024 12 26 11 0.031 7 0 0 0 0 17.57 51132 chr9 71841018 71841018 A G rs17062695 TJP2 Synonymous SNV L383L 0.087 0.068 0.061 22 102 26 0.056 18 4 0 2 1 Benign/Likely benign 7.888 51133 chr9 133556930 133556930 C T rs12004652 PRDM12 Synonymous SNV P326P 0.126 0.112 0.102 57 148 43 0.146 30 18 5 2 5 14.24 51134 chr9 133579152 133579152 G A rs34680820 EXOSC2 Synonymous SNV Q265Q 0.013 0.013 0.014 8 15 5 0.021 4 0 0 0 0 10.83 51135 chr9 71851877 71851877 G A rs34774441 TJP2 Nonsynonymous SNV M672I 0.078 0.065 0.068 33 91 25 0.085 20 3 2 0 1 Benign/Likely benign 26.9 51136 chr9 130605385 130605385 C T rs11545664 ENG Synonymous SNV L69L 0.131 0.13 0.119 46 154 50 0.118 35 7 3 3 4 Benign/Likely benign 13.82 51137 chr22 31674324 31674324 C G rs149034313 LIMK2 Nonsynonymous SNV S584C 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 21.9 51138 chr8 74791226 74791226 G T rs371925720 LINC01617 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 5.121 51139 chr9 133914321 133914321 C T rs45603838 LAMC3 Synonymous SNV G349G 0.102 0.091 0.133 28 120 35 0.072 39 8 3 3 1 Likely benign 19.61 51140 chr8 73921283 73921283 - GAG rs149294115 TERF1 E62_D63insE 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 51141 chr9 123476257 123476257 G A rs149898889 MEGF9 Nonsynonymous SNV P127L 0.02 0.029 0.058 11 23 11 0.028 17 0 0 0 0 11.33 51142 chr21 43808627 43808627 C T rs35227181 TMPRSS3 Nonsynonymous SNV G111S 0.094 0.135 0.092 40 110 52 0.103 27 5 3 0 1 Benign 14.23 51143 chr22 32081681 32081681 C T rs8142355 PRR14L Synonymous SNV P2096P 0.062 0.047 0.044 18 73 18 0.046 13 4 0 0 0 15.31 51144 chr9 133943489 133943489 C T rs150207220 LAMC3 Nonsynonymous SNV S873L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 51145 chr9 131483798 131483798 A G rs10988103 ZDHHC12 Nonsynonymous SNV L165P 0.042 0.031 0.044 22 49 12 0.056 13 2 0 0 0 6.162 51146 chr22 32108475 32108475 C T rs16989427 PRR14L Nonsynonymous SNV V1784I 0.062 0.047 0.044 16 73 18 0.041 13 4 0 0 0 13.13 51147 chr8 75262774 75262774 C T rs751856711 GDAP1 Synonymous SNV L26L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 15.47 51148 chr21 43838685 43838685 G C rs761615381 UBASH3A Nonsynonymous SNV R300P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 51149 chr22 32108824 32108824 T A rs131224 PRR14L Synonymous SNV T1667T 0.101 0.078 0.075 27 119 30 0.069 22 8 0 1 0 0.01 51150 chr22 32110943 32110943 G A rs140079 PRR14L Nonsynonymous SNV T961I 0.101 0.078 0.075 26 119 30 0.067 22 8 0 1 0 22.8 51151 chr9 75315438 75315438 G A rs1796993 TMC1 Nonsynonymous SNV E81K 0.16 0.169 0.139 71 188 65 0.182 41 21 6 6 5 Benign 23.1 51152 chr9 131584729 131584729 G T rs61737988 ENDOG Nonsynonymous SNV R245L 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 Benign 24.4 51153 chr9 133981634 133981634 G A rs77108388 AIF1L Synonymous SNV L51L 0.024 0.016 0.007 7 28 6 0.018 2 0 0 0 0 1.136 51154 chr9 77257346 77257346 G A rs2273975 RORB Synonymous SNV R95R 0.21 0.237 0.218 89 246 91 0.228 64 18 11 6 15 9.777 51155 chr9 131584732 131584732 C T rs61737987 ENDOG Nonsynonymous SNV T246I 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 Benign 23.7 51156 chr22 32205632 32205632 A C rs5998135 DEPDC5 Synonymous SNV T413T 0.122 0.104 0.099 37 143 40 0.095 29 13 0 1 1 Benign 3.888 51157 chr9 77416972 77416972 C T rs11144089 TRPM6 Synonymous SNV L612L 0.066 0.068 0.051 39 78 26 0.1 15 3 0 0 2 Benign 12.31 51158 chr9 77435340 77435340 C A rs56155062 TRPM6 Nonsynonymous SNV M333I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign/Likely benign 0.003 51159 chr22 32628900 32628900 C T rs62239049 SLC5A4 Nonsynonymous SNV R336H 0.014 0.013 0.024 7 17 5 0.018 7 0 0 0 0 35 51160 chr9 134183497 134183497 C T rs139237318 PLPP7 Synonymous SNV P213P 0.004 0.003 0.01 7 5 1 0.018 3 0 0 0 0 15.32 51161 chr13 32893344 32893344 A G rs28897700 BRCA2 Synonymous SNV Q66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.047 51162 chr8 81897200 81897200 C T rs7006101 PAG1 Synonymous SNV S229S 0.177 0.156 0.184 63 208 60 0.162 54 23 6 5 5 13.83 51163 chr22 32643448 32643448 C - rs370994036 SLC5A4 V143Sfs*15 0.014 0.013 0.017 4 16 5 0.01 5 0 0 0 0 51164 chr22 32643460 32643460 C A rs62239058 SLC5A4 Stop gain E139X 0.014 0.013 0.024 7 17 5 0.018 7 0 0 0 0 31 51165 chr8 81733727 81733727 C A rs3907424 ZNF704 Nonsynonymous SNV A35S 0.191 0.138 0.156 45 224 53 0.115 46 17 2 0 1 18.66 51166 chr22 32650200 32650200 C T rs2235171 SLC5A4 Nonsynonymous SNV A46T 0.031 0.029 0.048 14 36 11 0.036 14 0 0 1 1 25.1 51167 chr8 8560176 8560176 G A rs201513699 CLDN23 Nonsynonymous SNV A90T 0.003 0.013 0.014 5 4 5 0.013 4 0 0 0 0 2.319 51168 chr9 77761642 77761642 T C rs2146044 OSTF1 Synonymous SNV D210D 0.162 0.154 0.139 55 190 59 0.141 41 18 3 2 2 4.569 51169 chr9 78506145 78506145 G A rs7020560 PCSK5 Synonymous SNV L16L 0.068 0.089 0.068 19 80 34 0.049 20 2 2 0 1 11.13 51170 chr9 78506187 78506187 T C rs7040769 PCSK5 Synonymous SNV C30C 0.146 0.167 0.146 51 171 64 0.131 43 10 9 6 7 5.676 51171 chr8 86021994 86021994 G A rs62525422 LRRCC1 Nonsynonymous SNV C90Y 0.112 0.143 0.102 43 131 55 0.11 30 3 1 2 1 22.6 51172 chr9 78638797 78638797 C T rs34417623 PCSK5 Synonymous SNV Y185Y 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 Uncertain significance 6.871 51173 chr8 86057707 86057707 A G rs62525428 LRRCC1 Synonymous SNV Q641Q 0.112 0.146 0.048 42 131 56 0.108 14 4 1 2 1 3.19 51174 chr9 131909736 131909736 C T rs2480452 PTPA Nonsynonymous SNV S293L 0.08 0.055 0.065 32 94 21 0.082 19 2 1 2 1 23.9 51175 chr8 24193039 24193039 T C rs150239663 ADAM28 Synonymous SNV N484N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 0.011 51176 chr13 33261291 33261291 C T PDS5B Synonymous SNV A408A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 51177 chr9 134360124 134360124 A G PRRC2B Nonsynonymous SNV R1838G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 51178 chr9 13219603 13219603 C G rs34911705 MPDZ Nonsynonymous SNV L347F 0.014 0.021 0.003 3 17 8 0.008 1 0 0 0 0 Benign/Likely benign 16.07 51179 chr9 13224491 13224491 G A rs17273542 MPDZ Nonsynonymous SNV S92L 0.022 0.031 0.014 4 26 12 0.01 4 0 0 0 0 Benign 23.7 51180 chr9 132400660 132400660 C T rs151279028 ASB6 Stop gain W189X 0.011 0.005 0 6 13 2 0.015 0 0 0 0 0 12.95 51181 chr9 131591131 131591131 C T rs141898678 SPOUT1 Nonsynonymous SNV E31K 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 23.1 51182 chr8 82357149 82357149 A G rs113226355 PMP2 Nonsynonymous SNV I50T 0.014 0.023 0.014 8 17 9 0.021 4 0 1 0 0 Benign 26.4 51183 chr8 82670771 82670771 G A rs35094336 CHMP4C Nonsynonymous SNV A232T 0.058 0.073 0.061 23 68 28 0.059 18 5 3 1 0 26.4 51184 chr8 8560151 8560151 G A rs61754959 CLDN23 Synonymous SNV R81R 0.023 0.031 0.007 8 27 12 0.021 2 1 0 0 0 6.574 51185 chr22 36055406 36055406 A C rs34014315 APOL6 Synonymous SNV T265T 0.067 0.055 0.054 20 79 21 0.051 16 5 0 0 1 0.001 51186 chr9 132637691 132637691 C T rs35071307 USP20 Synonymous SNV L717L 0.027 0.039 0.048 6 32 15 0.015 14 0 1 0 0 14.28 51187 chr21 45746685 45746685 C T rs146583875 PFKL Synonymous SNV Y761Y 0.003 0.008 0.003 6 3 3 0.015 1 0 0 0 0 10.21 51188 chr8 87076415 87076415 C T rs36074412 PSKH2 Nonsynonymous SNV G211R 0.004 0 0 0 5 0 0 0 0 0 0 0 17.23 51189 chr21 45750145 45750145 T C rs11552066 CFAP410 Nonsynonymous SNV Q235R 0.122 0.156 0.136 55 143 60 0.141 40 10 5 3 3 Benign 4.305 51190 chr8 87076651 87076651 T C rs16879427 PSKH2 Nonsynonymous SNV Q132R 0.009 0.01 0.003 0 10 4 0 1 0 0 0 0 0.002 51191 chr8 87076810 87076810 C T rs35315725 PSKH2 Nonsynonymous SNV R79K 0.044 0.039 0.014 19 52 15 0.049 4 2 1 0 0 23.5 51192 chr9 135374764 135374764 G A rs7047726 CFAP77 Nonsynonymous SNV G101R 0.082 0.06 0.065 44 96 23 0.113 19 2 2 0 4 27.6 51193 chr9 132848699 132848699 G C rs640343 GPR107 Nonsynonymous SNV A189P 0.036 0.057 0.054 12 42 22 0.031 16 1 1 0 0 14.15 51194 chr21 45876913 45876913 C T LRRC3 Nonsynonymous SNV P129L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 26.3 51195 chr13 39422624 39422624 C T rs9548505 FREM2 Nonsynonymous SNV R2066C 0.089 0.073 0.095 33 105 28 0.085 28 1 2 1 0 Benign 35 51196 chr22 36897427 36897427 T C rs5756223 FOXRED2 Synonymous SNV A269A 0.064 0.065 0.095 29 75 25 0.074 28 1 0 3 0 0.73 51197 chr13 39424253 39424253 C G rs9548506 FREM2 Nonsynonymous SNV T2153S 0.089 0.073 0.095 33 104 28 0.085 28 1 2 1 0 Benign 0.464 51198 chr9 132637608 132637608 A G rs35781520 USP20 Nonsynonymous SNV M690V 0.027 0.01 0.024 5 32 4 0.013 7 0 0 0 0 10.39 51199 chr9 135493810 135493810 G A rs143693078 DDX31 Nonsynonymous SNV P506S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.4 51200 chr13 39424254 39424254 T C rs9548507 FREM2 Synonymous SNV T2153T 0.089 0.073 0.095 33 104 28 0.085 28 1 2 1 0 Benign 0.094 51201 chr9 133511393 133511393 C T rs76482042 FUBP3 Synonymous SNV A530A 0.034 0.023 0.003 8 40 9 0.021 1 0 0 0 0 14.4 51202 chr22 36902272 36902272 G A FOXRED2 Synonymous SNV G66G 0 0 0 0 0 0 0 0 0 0 0 0 9.723 51203 chr13 39450435 39450435 C G rs138775857 FREM2 Synonymous SNV A2820A 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 Benign/Likely benign 8.08 51204 chr22 37162411 37162411 A G rs78430121 LOC105373021 0.021 0.031 0.031 8 25 12 0.021 9 4 0 0 1 2.477 51205 chr13 39454771 39454771 G C rs41306664 FREM2 Synonymous SNV T3119T 0.014 0.023 0.037 16 17 9 0.041 11 0 0 0 0 Likely benign 5.485 51206 chr8 94746898 94746918 GCCTGAAGTCCTCTGGGGAGT - rs760608044 RBM12B H574_R580del 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 51207 chr8 94792887 94792887 G A rs35793208 TMEM67 Nonsynonymous SNV D261N 0.017 0.029 0.014 9 20 11 0.023 4 1 0 0 0 Benign/Likely benign 9.599 51208 chr9 136227304 136227304 C T rs74713084 SURF2 Synonymous SNV R227R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 51209 chr13 40362472 40362472 G A rs375175785 COG6 Synonymous SNV K609K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.335 51210 chr9 136253304 136253304 G A rs973498188 STKLD1 Nonsynonymous SNV R123K 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 20.3 51211 chr9 8485834 8485834 G A rs35929428 PTPRD Nonsynonymous SNV R995C 0.101 0.076 0.088 35 118 29 0.09 26 6 1 1 1 25.3 51212 chr13 41515221 41515221 T A rs151034333 ELF1 Synonymous SNV P340P 0.007 0.013 0.003 7 8 5 0.018 1 0 0 0 0 Benign 3.667 51213 chr8 95399331 95399331 G A rs28605692 RAD54B Synonymous SNV G438G 0.024 0.031 0.034 12 28 12 0.031 10 0 0 0 0 11.31 51214 chr8 27396208 27396208 G A rs4149253 EPHX2 Synonymous SNV A359A 0.066 0.044 0.071 24 78 17 0.062 21 4 1 1 1 8.174 51215 chr9 125563212 125563212 T C rs7046603 OR1K1 Nonsynonymous SNV W271R 0.008 0.013 0.017 5 9 5 0.013 5 0 0 0 0 0.022 51216 chr9 88692336 88692336 C T rs3750390 GOLM1 Synonymous SNV Q100Q 0.014 0.021 0.037 6 17 8 0.015 11 0 0 0 0 13.74 51217 chr9 133945210 133945210 G A rs150155891 LAMC3 Synonymous SNV P1014P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.647 51218 chr9 88694179 88694179 G T rs3750389 GOLM1 Synonymous SNV A19A 0.096 0.138 0.122 30 113 53 0.077 36 5 4 5 1 13.03 51219 chr13 42245134 42245134 C T rs751311007 VWA8 Nonsynonymous SNV R1520Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 51220 chr9 125681507 125681507 T C rs7856488 ZBTB26 Nonsynonymous SNV H236R 0.003 0 0 0 3 0 0 0 0 0 0 0 3.527 51221 chr9 125797479 125797479 T G rs61736065 GPR21 Nonsynonymous SNV F212V 0.003 0 0 0 3 0 0 0 0 0 0 0 4.582 51222 chr9 134074288 134074288 G A rs139339892 NUP214 Nonsynonymous SNV A629T 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 11.17 51223 chr9 133954548 133954548 C T rs11244275 LAMC3 Nonsynonymous SNV R1264W 0.111 0.099 0.092 35 130 38 0.09 27 8 2 1 1 Benign 7.714 51224 chr9 125797591 125797591 G A rs770473320 GPR21 Nonsynonymous SNV R249H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.87 51225 chr8 95444797 95444797 C T rs770279073 FSBP Synonymous SNV V154V 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 9.025 51226 chr8 96037319 96037319 G C rs201223057 NDUFAF6 Nonsynonymous SNV G28A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 0.014 51227 chr9 134020086 134020086 A G rs61751470 NUP214 Nonsynonymous SNV M572V 0.042 0.034 0.041 18 49 13 0.046 12 0 1 0 0 0.001 51228 chr8 98943205 98943205 C T rs138635803 MATN2 Nonsynonymous SNV A56V 0.019 0.016 0.02 3 22 6 0.008 6 0 0 0 0 21.2 51229 chr9 136522426 136522426 T C rs3025422 DBH-AS1 0.029 0.018 0.017 16 34 7 0.041 5 1 0 0 1 0.494 51230 chr9 90585760 90585760 G A rs759844599 CDK20 Nonsynonymous SNV A144V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 26.9 51231 chr13 44411563 44411563 T C rs7332503 CCDC122 Synonymous SNV V104V 0.039 0.018 0.041 11 46 7 0.028 12 0 0 0 0 8.484 51232 chr22 38028046 38028046 C T rs55740624 GGA1 Synonymous SNV R437R 0.008 0 0.014 2 9 0 0.005 4 0 0 0 0 14.58 51233 chr22 38039128 38039128 A G rs74516928 SH3BP1 Synonymous SNV K140K 0.064 0.063 0.065 30 75 24 0.077 19 3 1 1 1 0.85 51234 chr8 95746907 95746907 G A rs139618366 DPY19L4 Synonymous SNV A59A 0.011 0.003 0.007 6 13 1 0.015 2 0 0 0 0 14.89 51235 chr9 136555540 136555540 G A rs145933501 SARDH Synonymous SNV S677S 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 13.8 51236 chr9 91996196 91996196 C T rs148298809 SEMA4D Synonymous SNV G504G 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 10.65 51237 chr22 38039634 38039634 C G rs1894528 LOC101927051 0.06 0.057 0.061 28 71 22 0.072 18 3 1 1 0 7.469 51238 chr13 45148093 45148093 T C rs142800671 TSC22D1 Synonymous SNV A706A 0.004 0.01 0.027 2 5 4 0.005 8 0 0 1 0 Benign 0.78 51239 chr13 45149695 45149695 G A rs138186764 TSC22D1 Synonymous SNV S172S 0.004 0.01 0.027 2 5 4 0.005 8 0 0 1 0 Benign 6.329 51240 chr22 38039708 38039708 T C rs1894529 SH3BP1 Synonymous SNV G177G 0.066 0.063 0.065 31 77 24 0.079 19 3 1 1 1 1.29 51241 chr22 38046718 38046718 A G rs762987 SH3BP1 Synonymous SNV A528A 0.066 0.06 0.075 31 77 23 0.079 22 3 1 2 1 0.907 51242 chr21 47532440 47532440 C T rs59531343 COL6A2 Synonymous SNV P221P 0.062 0.055 0.071 21 73 21 0.054 21 4 2 1 0 Benign 17.13 51243 chr22 38109227 38109227 C G rs199646135 TRIOBP Nonsynonymous SNV P89A 0.014 0.018 0.014 6 17 7 0.015 4 1 0 0 0 Benign/Likely benign 0.002 51244 chr9 94499797 94499797 A G rs16907720 ROR2 Synonymous SNV D166D 0.063 0.083 0.054 23 74 32 0.059 16 5 2 1 0 Benign 1.138 51245 chr9 136599146 136599146 C T rs573904 SARDH Synonymous SNV Q50Q 0.24 0.279 0.296 111 282 107 0.285 87 27 18 7 16 1.897 51246 chr9 95179071 95179071 G A rs34607425 OMD Nonsynonymous SNV P257L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 26.5 51247 chr9 136643908 136643908 G A rs56233098 VAV2 Synonymous SNV G612G 0.077 0.057 0.095 24 90 22 0.062 28 4 1 1 1 9.349 51248 chr21 47552209 47552209 G A rs35548026 COL6A2 Nonsynonymous SNV G935R 0.063 0.057 0.071 23 74 22 0.059 21 4 2 1 1 Benign/Likely benign 21.8 51249 chr9 134357947 134357947 A C rs45572436 PRRC2B Nonsynonymous SNV K1725Q 0.005 0 0.003 0 6 0 0 1 0 0 0 0 11.34 51250 chr9 136915643 136915643 G A rs56302096 BRD3 Synonymous SNV T189T 0.026 0.023 0.034 14 30 9 0.036 10 0 0 0 1 11.44 51251 chr8 98954108 98954108 G T rs35407519 MATN2 Synonymous SNV S272S 0.061 0.083 0.051 31 72 32 0.079 15 5 0 1 1 11.19 51252 chr9 137979919 137979919 G A OLFM1 Synonymous SNV S28S 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 19.19 51253 chr8 33354235 33354235 - GAT rs376700753 MAK16 D211_E212insD 0.025 0.034 0.054 6 29 13 0.015 16 0 0 0 0 51254 chr9 96407983 96407983 C T rs9695734 PHF2 Synonymous SNV T124T 0.178 0.12 0.17 66 209 46 0.169 50 18 3 3 6 19.53 51255 chr8 99006787 99006787 C T rs16896514 MATN2 Synonymous SNV C387C 0.061 0.073 0.051 27 72 28 0.069 15 6 0 1 1 14.85 51256 chr13 47469968 47469968 G T rs1805055 HTR2A Nonsynonymous SNV T25N 0.03 0.016 0.014 13 35 6 0.033 4 1 0 0 1 13.79 51257 chr9 130119549 130119549 G A rs144269969 GARNL3 Nonsynonymous SNV A663T 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 7.337 51258 chr9 138392889 138392889 C A rs140165953 MRPS2 Nonsynonymous SNV T30N 0.03 0.044 0.027 15 35 17 0.038 8 0 1 0 0 11.76 51259 chr13 48653958 48653959 AC - rs138539860 MED4-AS1 0.111 0.102 0.177 55 130 39 0.141 52 13 4 4 8 51260 chr22 38219570 38219570 C G rs78650836 GALR3 Nonsynonymous SNV P53A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.31 51261 chr13 49089358 49089358 A G RCBTB2 Nonsynonymous SNV I87T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 51262 chr13 49830003 49830003 - A rs750881234 CDADC1 Frameshift insertion G70Rfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 51263 chr9 135224757 135224757 C T rs79740039 SETX Nonsynonymous SNV R20H 0.02 0.01 0.014 7 24 4 0.018 4 0 0 0 0 Benign/Likely benign 2.044 51264 chr9 98011497 98011497 G A rs1800361 FANCC Nonsynonymous SNV S26F 0.016 0.013 0.003 10 19 5 0.026 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 51265 chr21 47786950 47786950 C T rs138361417 PCNT Nonsynonymous SNV R903W 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Uncertain significance 23.5 51266 chr9 100616706 100616706 - GCC FOXE1 A179_I180insA 0.002 0 0 0 2 0 0 0 0 0 0 0 51267 chr8 37729746 37729746 G A rs17362412 RAB11FIP1 Synonymous SNV H858H 0.016 0.023 0.02 10 19 9 0.026 6 0 0 0 0 Benign 4.425 51268 chr9 130270782 130270782 G A rs11545937 NIBAN2 Synonymous SNV L438L 0.052 0.034 0.048 26 61 13 0.067 14 2 1 0 1 11.6 51269 chr9 135413085 135413085 A C rs34650498 CFAP77 Nonsynonymous SNV K208Q 0.073 0.049 0.051 28 86 19 0.072 15 2 0 0 0 18.71 51270 chr9 135521303 135521303 C T rs306537 DDX31 Synonymous SNV L558L 0.045 0.044 0.051 23 53 17 0.059 15 3 0 1 0 15.15 51271 chr9 138836942 138836944 CCT - rs140946801 UBAC1 E269del 0.263 0.224 0.235 109 309 86 0.279 69 51 8 7 19 51272 chr9 135546021 135546021 G A rs146201597 GTF3C4 Synonymous SNV A12A 0.045 0.044 0.031 23 53 17 0.059 9 3 0 1 0 10.84 51273 chrX 100490933 100490933 G C rs7066252 DRP2 Nonsynonymous SNV V68L 0.154 0.156 0.204 67 181 60 0.172 60 50 16 22 25 10.56 51274 chrX 100507675 100507675 G T rs41304462 DRP2 Synonymous SNV L571L 0.023 0.023 0.027 6 27 9 0.015 8 5 3 3 2 Benign 5.835 51275 chrX 100524197 100524197 C T rs41310729 TAF7L Nonsynonymous SNV R372H 0.026 0.029 0.027 8 30 11 0.021 8 6 4 3 3 3.128 51276 chr22 38710156 38710156 G A CSNK1E, TPTEP2-CSNK1E Synonymous SNV L3L 0 0 0 0 0 0 0 0 0 0 0 0 9.747 51277 chrX 100538568 100538568 T C rs138089236 TAF7L Nonsynonymous SNV D50G 0.006 0.005 0 2 7 2 0.005 0 1 1 0 1 22.7 51278 chr9 135786904 135786904 A G rs1073123 TSC1 Nonsynonymous SNV M271T 0.123 0.141 0.133 53 144 54 0.136 39 12 3 2 3 Benign 6.707 51279 chrX 100547853 100547853 C T rs147493489 TAF7L Nonsynonymous SNV E61K 0.028 0.031 0.02 9 33 12 0.023 6 7 4 2 3 Benign 3.469 51280 chr9 135985796 135985796 C T rs3761824 RALGDS Synonymous SNV V70V 0.244 0.263 0.31 96 286 101 0.246 91 36 13 14 8 14.15 51281 chr9 136216882 136216882 G A rs7700 RPL7A Synonymous SNV T130T 0.078 0.063 0.068 25 91 24 0.064 20 4 0 3 1 8.681 51282 chr13 52509077 52509077 C T rs189601972 ATP7B Nonsynonymous SNV G1198S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 51283 chr9 136219564 136219564 G C rs28715079 SURF1 Synonymous SNV T82T 0.047 0.049 0.041 21 55 19 0.054 12 4 0 0 1 Benign/Likely benign 7.081 51284 chr9 135977366 135977366 T G rs34170541 RALGDS Nonsynonymous SNV I669L 0.013 0.008 0.014 8 15 3 0.021 4 0 0 0 0 10.55 51285 chr9 136221557 136221557 A G rs28615629 SURF1 Synonymous SNV L94L 0.047 0.047 0.041 21 55 18 0.054 12 4 0 0 1 Benign/Likely benign 10.03 51286 chr9 136228006 136228006 G A rs34939258 SURF2 Synonymous SNV Q253Q 0.078 0.063 0.068 25 91 24 0.064 20 4 0 3 1 1.115 51287 chr9 101748234 101748234 G A rs2075662 COL15A1 Nonsynonymous SNV R163H 0.193 0.208 0.197 69 227 80 0.177 58 24 7 3 6 15.92 51288 chrX 102962181 102962181 A G rs7064350 GLRA4 0.326 0.328 0 158 383 126 0.405 0 128 47 0 61 12.62 51289 chr9 136268897 136268897 G A rs36079470 STKLD1 Synonymous SNV A516A 0.067 0.06 0.065 22 79 23 0.056 19 2 0 3 1 10.47 51290 chr9 136268952 136268952 G T rs33919837 STKLD1 Nonsynonymous SNV G535C 0.077 0.063 0.068 22 90 24 0.056 20 4 0 3 1 27 51291 chrX 103042882 103042882 T C rs1126707 PLP1 Synonymous SNV D203D 0.314 0.313 0.231 143 369 120 0.367 68 129 38 22 53 Benign 0.107 51292 chr22 39884847 39884847 G C rs141441163 MGAT3 Nonsynonymous SNV D499H 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 18.52 51293 chr9 101767315 101767315 G A rs35934703 COL15A1 Nonsynonymous SNV G446R 0.115 0.135 0.116 55 135 52 0.141 34 10 2 0 8 1.546 51294 chr8 41355096 41355096 C T rs17656952 GOLGA7 Synonymous SNV L60L 0.155 0.122 0.112 41 182 47 0.105 33 21 2 2 3 17.05 51295 chr9 136269143 136269143 G A rs17150554 STKLD1 Nonsynonymous SNV R568Q 0.078 0.06 0.065 24 92 23 0.062 19 4 0 3 1 23.1 51296 chr22 39907368 39907368 G A rs17400681 MIEF1 Synonymous SNV V23V 0.009 0.016 0.003 4 10 6 0.01 1 0 0 0 0 12.97 51297 chr13 52660472 52660472 G A rs35465612 NEK5 Nonsynonymous SNV R474C 0.003 0.005 0.014 4 3 2 0.01 4 0 0 0 0 32 51298 chr8 41566438 41566438 C T rs2304877 ANK1 Nonsynonymous SNV R619H 0.023 0.018 0.037 7 27 7 0.018 11 0 0 0 0 Benign/Likely benign 23.1 51299 chr8 41573182 41573182 G A rs61758865 ANK1 Synonymous SNV A530A 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.98 51300 chr9 136277482 136277482 T C rs2285487 REXO4 Nonsynonymous SNV T146A 0.078 0.063 0.068 25 92 24 0.064 20 4 0 3 1 10.53 51301 chr8 41583441 41583441 T C rs6982971 ANK1 Synonymous SNV V150V 0.022 0.021 0.037 7 26 8 0.018 11 0 0 0 0 Benign/Likely benign 7.847 51302 chr9 136279935 136279935 C T rs6597630 REXO4 Nonsynonymous SNV G82R 0.083 0.065 0.065 26 98 25 0.067 19 4 0 3 1 0.004 51303 chrX 107037795 107037795 C A rs5962885 NCBP2L Synonymous SNV V115V 0.19 0.19 0.19 51 223 73 0.131 56 65 24 20 13 13.97 51304 chr9 136287582 136287582 C T rs34024143 ADAMTS13 Nonsynonymous SNV R7W 0.118 0.099 0.116 43 139 38 0.11 34 12 1 4 4 Benign/Likely benign 7.668 51305 chrX 107417730 107417730 G A rs5973851 COL4A6 Synonymous SNV G1026G 0.218 0.216 0.18 85 256 83 0.218 53 77 24 18 28 Benign 7.462 51306 chr9 136290672 136290672 G A rs28571612 ADAMTS13 Synonymous SNV P118P 0.069 0.06 0.061 24 81 23 0.062 18 3 0 2 2 Benign/Likely benign 11.29 51307 chr9 136291361 136291361 C T rs34054981 ADAMTS13 Synonymous SNV G194G 0.077 0.065 0.068 27 90 25 0.069 20 3 0 3 2 Benign/Likely benign 10.86 51308 chr8 48353090 48353090 G C rs201957494 SPIDR Synonymous SNV R119R 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Likely benign 4.393 51309 chrX 107976940 107976940 G C rs1801164 IRS4 Nonsynonymous SNV H879D 0.174 0.193 0.146 64 204 74 0.164 43 60 25 13 19 0.028 51310 chr13 70549906 70549906 G A rs35781936 KLHL1 Nonsynonymous SNV P176S 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 1.107 51311 chr9 136305530 136305530 C G rs28647808 ADAMTS13 Nonsynonymous SNV P618A 0.077 0.065 0.068 27 90 25 0.069 20 3 0 3 2 Benign/Likely benign 24.9 51312 chrX 107979512 107979512 C T rs2073114 IRS4 Synonymous SNV A21A 0.176 0.193 0.146 66 207 74 0.169 43 61 24 13 20 21.1 51313 chrX 107979515 107979515 C T rs2073115 IRS4 Synonymous SNV A20A 0.135 0.143 0.099 45 158 55 0.115 29 45 17 10 14 22.3 51314 chr9 136314952 136314952 C T rs28641026 ADAMTS13 Synonymous SNV V970V 0.032 0.029 0.027 15 37 11 0.038 8 3 0 0 0 Benign/Likely benign 12.7 51315 chr9 136319589 136319589 G A rs28503257 ADAMTS13 Nonsynonymous SNV A1033T 0.032 0.029 0.041 15 37 11 0.038 12 3 0 0 0 Benign/Likely benign 32 51316 chr9 109689972 109689972 C T rs41277821 ZNF462 Nonsynonymous SNV T1260M 0.009 0.003 0.007 3 11 1 0.008 2 0 0 0 0 Benign 24.7 51317 chr9 104335586 104335586 T A rs62000403 GRIN3A Nonsynonymous SNV N1073I 0.035 0.021 0.02 18 41 8 0.046 6 1 0 0 0 20.9 51318 chr9 136319600 136319600 G A rs34934621 ADAMTS13 Synonymous SNV S1036S 0.053 0.044 0.054 21 62 17 0.054 16 3 0 2 2 Benign/Likely benign 11.64 51319 chrX 11316742 11316742 C T rs2106416 AMELX Synonymous SNV H57H 0.233 0.211 0.224 82 274 81 0.21 66 73 27 22 22 Benign 6.494 51320 chr9 104335690 104335690 C T rs16920497 GRIN3A Synonymous SNV L1038L 0.041 0.026 0.034 19 48 10 0.049 10 1 0 1 0 14.05 51321 chr9 136339181 136339181 C T rs28584627 SLC2A6 Synonymous SNV G319G 0.053 0.044 0.054 21 62 17 0.054 16 3 0 2 2 11.61 51322 chrX 114424711 114424711 G C rs182342906 RBMXL3 Nonsynonymous SNV G236A 0.101 0.078 0.102 45 118 30 0.115 30 27 7 12 15 0.049 51323 chr9 111641825 111641825 G A rs1538660 ELP1 Nonsynonymous SNV P809L 0.19 0.141 0.15 59 223 54 0.151 44 20 4 3 5 Benign 7.563 51324 chr13 74993000 74993000 G A rs953905 LOC100288208 0 0 0.116 0 0 0 0 34 0 0 4 0 3.415 51325 chr22 17280822 17280822 G A rs5748648 XKR3 Nonsynonymous SNV T143M 0.059 0.052 0.065 20 69 20 0.051 19 4 0 0 1 0.05 51326 chr9 111651620 111651620 A T rs3204145 ELP1 Nonsynonymous SNV C723S 0.189 0.138 0.15 56 222 53 0.144 44 20 4 3 5 Benign 17.8 51327 chr13 75915261 75915261 A C rs9565152 TBC1D4 Synonymous SNV S537S 0.018 0.008 0.017 4 21 3 0.01 5 0 0 0 0 Likely benign 2.569 51328 chr22 41257393 41257393 C A rs61756762 DNAJB7 Nonsynonymous SNV K202N 0.019 0.034 0.017 12 22 13 0.031 5 0 0 0 0 13.79 51329 chrX 114426765 114426765 C T rs11795689 RBMXL3 Nonsynonymous SNV P921S 0.121 0.117 0.088 44 142 45 0.113 26 35 12 9 12 22 51330 chr9 139748048 139748048 C T MAMDC4 Nonsynonymous SNV A127V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.025 51331 chrX 114427149 114427149 A G rs6643947 RBMXL3 Nonsynonymous SNV R1049G 0.12 0.117 0.088 44 141 45 0.113 26 35 12 9 12 14.83 51332 chr13 76395464 76395464 C T rs41286126 LMO7 Nonsynonymous SNV P460S 0.071 0.068 0.092 30 83 26 0.077 27 1 0 1 0 0.016 51333 chr9 139749788 139749788 C T rs145077934 MAMDC4 Nonsynonymous SNV S427L 0.011 0.013 0.024 9 13 5 0.023 7 0 0 0 0 0.087 51334 chrX 114541027 114541027 A G rs2232736 LUZP4 Synonymous SNV Q118Q 0.113 0.109 0.092 51 133 42 0.131 27 32 11 9 15 0.026 51335 chr9 136645059 136645059 G A rs111868428 VAV2 Synonymous SNV D571D 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 Benign 7.953 51336 chrX 115568993 115568993 T A rs12720074 SLC6A14 Synonymous SNV G28G 0.101 0.115 0.095 47 119 44 0.121 28 27 11 10 15 7.801 51337 chrX 115945211 115945211 A G rs1567134 LOC100126447 1 1 0 389 1174 384 0.997 0 587 192 0 194 4.097 51338 chr9 111938878 111938878 T C rs200395948 EPB41L4B Synonymous SNV T862T 0.02 0.023 0.003 4 23 9 0.01 1 1 1 0 0 8 51339 chrX 117528142 117528142 C T rs6603401 WDR44 Synonymous SNV T292T 0.205 0.188 0.214 68 241 72 0.174 63 63 23 23 21 18.24 51340 chr9 139835558 139835558 C T rs45559439 FBXW5 Nonsynonymous SNV R508Q 0.049 0.049 0.058 25 57 19 0.064 17 1 1 1 1 21 51341 chr9 136915508 136915508 C T rs2301576 BRD3 Synonymous SNV P234P 0.075 0.104 0.061 35 88 40 0.09 18 4 3 0 0 12.14 51342 chrX 117722176 117722176 G A rs41312765 DOCK11 Synonymous SNV E624E 0.127 0.133 0.075 66 149 51 0.169 22 40 13 7 22 7.187 51343 chrX 118108785 118108785 T C rs3813933 LONRF3 Synonymous SNV A14A 0.452 0.427 0.432 167 531 164 0.428 127 194 62 51 61 0.255 51344 chr9 137017126 137017126 A G rs34523253 WDR5 Synonymous SNV S202S 0.041 0.044 0.048 15 48 17 0.038 14 0 0 1 1 1.156 51345 chr9 136633606 136633606 G A rs9722384 VAV2 Synonymous SNV I810I 0.03 0.008 0.051 11 35 3 0.028 15 0 0 1 0 14.84 51346 chr8 61654909 61654909 C G CHD7 Nonsynonymous SNV N306K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 51347 chr8 623809 623809 T C rs143270935 ERICH1 Synonymous SNV A181A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.051 51348 chr22 42076330 42076330 G A rs6002436 SNU13 Synonymous SNV A14A 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 14.86 51349 chr13 92003654 92003654 G A MIR17HG 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 51350 chr9 139905141 139905141 G A rs112887513 ABCA2 Synonymous SNV A2035A 0.087 0.102 0.071 35 102 39 0.09 21 2 3 0 2 0.211 51351 chrX 118763406 118763406 C T rs3088376 SEPTIN6 Synonymous SNV K385K 0.038 0.034 0.003 22 45 13 0.056 1 9 4 0 7 14.82 51352 chr9 139911983 139911983 T G rs12348881 ABCA2 Synonymous SNV A791A 0.127 0.133 0.133 51 149 51 0.131 39 8 4 3 3 0.559 51353 chr9 137591923 137591923 C T rs369971694 COL5A1 Nonsynonymous SNV P149L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 51354 chr22 42089659 42089659 C T rs2839716 C22orf46 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 0.099 51355 chr9 132642528 132642528 C T rs61999273 USP20 Synonymous SNV I907I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.46 51356 chr22 42095711 42095711 G C rs191014345 MEI1 Nonsynonymous SNV V57L 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 21 51357 chr9 107267420 107267420 C T rs7858601 OR13F1 Nonsynonymous SNV R293W 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.3 51358 chr9 139916833 139916833 T G rs35590326 ABCA2 Synonymous SNV A179A 0.106 0.104 0.102 36 125 40 0.092 30 5 2 2 1 4.418 51359 chr9 139916879 139916879 C T rs34039859 ABCA2 Nonsynonymous SNV R164H 0.084 0.083 0.092 31 99 32 0.079 27 3 2 1 1 16.67 51360 chr22 42177317 42177317 A G rs73163330 MEI1 Nonsynonymous SNV T949A 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 0.194 51361 chrX 119590533 119590533 T A rs12097 LAMP2 Synonymous SNV V52V 0.445 0.484 0.364 144 523 186 0.369 107 186 63 38 51 Benign/Likely benign 1.129 51362 chr13 95859035 95859035 C A rs2274407 ABCC4 Nonsynonymous SNV K229N 0.063 0.068 0.078 31 74 26 0.079 23 2 2 1 1 20.9 51363 chr22 42177816 42177816 C A rs6002481 MEI1 Synonymous SNV S1018S 0.02 0.018 0.027 12 24 7 0.031 8 1 0 0 0 12.04 51364 chr9 139925927 139925927 G C rs1139444 FUT7 Synonymous SNV A88A 0.086 0.091 0.099 33 101 35 0.085 29 3 2 2 0 5.852 51365 chr9 133759717 133759717 C T rs200800111 ABL1 Synonymous SNV G680G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 6.563 51366 chr22 42191540 42191540 C T rs6002488 MEI1 Synonymous SNV F1220F 0.02 0.018 0.024 12 24 7 0.031 7 1 0 0 0 6.095 51367 chrX 123466811 123466811 A G rs12393728 TEX13D Nonsynonymous SNV N15S 0.06 0.039 0.034 29 71 15 0.074 10 13 2 3 10 1.254 51368 chr9 139929435 139929435 A G rs12337910 C9orf139 Nonsynonymous SNV K168E 0.102 0.104 0.102 35 120 40 0.09 30 5 2 2 0 1.119 51369 chr9 133759793 133759793 G A rs143837301 ABL1 Nonsynonymous SNV G706S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.007 51370 chrX 123467158 123467158 G T rs113812713 TEX13D Nonsynonymous SNV A131S 0.062 0.049 0.02 32 73 19 0.082 6 13 4 2 11 2.153 51371 chr22 19165478 19165478 A G rs2070255 SLC25A1 Synonymous SNV G100G 0.106 0.112 0.095 51 124 43 0.131 28 7 4 2 5 Benign/Likely benign 10.16 51372 chrX 123467743 123467743 G A rs775432134 TEX13D Nonsynonymous SNV G326R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 4.639 51373 chrX 123468578 123468578 G T rs112652307 TEX13D Nonsynonymous SNV R604L 0.055 0.044 0 29 64 17 0.074 0 11 3 0 10 0.529 51374 chr22 19183787 19183787 A G rs1633399 CLTCL1 Nonsynonymous SNV I1394T 0.094 0.104 0.092 45 110 40 0.115 27 6 4 2 3 15.45 51375 chrX 123554646 123554646 T C rs12013090 TENM1 Synonymous SNV A1492A 0.149 0.089 0.143 69 175 34 0.177 42 48 11 14 18 1.308 51376 chr8 65493947 65493947 - GGC rs1056194036 BHLHE22 G207_S208insG 0 0.003 0 0 0 1 0 0 0 0 0 0 51377 chr9 138831567 138831567 T C rs1044193 UBAC1 Synonymous SNV K305K 0.111 0.151 0.095 54 130 58 0.138 28 7 5 0 4 0.111 51378 chr22 19195680 19195680 T C rs807547 CLTCL1 Nonsynonymous SNV N1195S 0.095 0.104 0.092 45 112 40 0.115 27 7 4 2 3 6.367 51379 chr9 113704059 113704059 C T rs41279057 LPAR1 Synonymous SNV E145E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.57 51380 chr22 19197949 19197949 G A rs712952 CLTCL1 Nonsynonymous SNV R1046C 0.095 0.104 0.092 45 111 40 0.115 27 7 4 2 3 32 51381 chr22 19223352 19223352 T C rs807459 CLTCL1 Nonsynonymous SNV Y279C 0.094 0.104 0.095 45 110 40 0.115 28 6 4 2 3 21.5 51382 chr22 19420109 19420109 T C rs1128399 MRPL40 Nonsynonymous SNV L11P 0.119 0.128 0.105 47 140 49 0.121 31 8 5 2 3 5.413 51383 chr9 108234207 108234207 A G rs28503319 FSD1L Nonsynonymous SNV N89S 0.022 0.029 0.034 8 26 11 0.021 10 0 1 1 0 8.411 51384 chrX 129201179 129201179 C T rs2181440 ELF4 Synonymous SNV T503T 0.281 0.242 0.282 114 330 93 0.292 83 92 32 31 40 Benign 13.99 51385 chr9 140066158 140066158 C T rs181179986 TMEM210 Synonymous SNV A53A 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 17.02 51386 chr9 139270901 139270901 G A rs61745672 SNAPC4 Synonymous SNV S1439S 0.083 0.078 0.109 17 97 30 0.044 32 4 2 2 0 1.97 51387 chrX 129283520 129283520 A G rs1139851 AIFM1 Synonymous SNV D91D 0.445 0.508 0.459 171 523 195 0.438 135 188 68 55 64 Benign 0.377 51388 chr9 139272045 139272045 C A rs79283598 SNAPC4 Nonsynonymous SNV A1412S 0.028 0.044 0.031 5 33 17 0.013 9 0 1 0 0 0.001 51389 chrX 129349295 129349295 T G rs209238 ZNF280C Synonymous SNV G617G 0.422 0.445 0.49 172 495 171 0.441 144 181 63 58 66 6.666 51390 chr9 140100317 140100317 C G rs113809617 NDOR1 Nonsynonymous SNV R30G 0.154 0.128 0.146 70 181 49 0.179 43 11 1 3 2 26.6 51391 chr9 138839673 138839673 G A rs762695333 UBAC1 Nonsynonymous SNV R138W 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 51392 chr9 139370217 139370217 G A rs76562693 SEC16A Synonymous SNV H617H 0.045 0.042 0.027 18 53 16 0.046 8 0 1 0 0 0.437 51393 chrX 130416480 130416480 A C rs139140137 IGSF1 Nonsynonymous SNV L386R 0.02 0.008 0.014 3 24 3 0.008 4 3 0 2 1 Benign 0.102 51394 chr14 100706058 100706058 C T YY1 Synonymous SNV S159S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 51395 chr9 140128914 140128914 C T rs113568956 SLC34A3 Synonymous SNV L380L 0.016 0.016 0.01 7 19 6 0.018 3 0 1 0 0 Benign/Likely benign 11.56 51396 chr22 43447891 43447891 C T rs9607998 TTLL1 Synonymous SNV P298P 0.034 0.034 0.031 8 40 13 0.021 9 0 0 0 0 Benign 13.06 51397 chr8 70981451 70981451 G A rs9969435 PRDM14 Synonymous SNV H215H 0.045 0.047 0.054 14 53 18 0.036 16 2 0 0 0 9.698 51398 chr9 139642089 139642146 CAGCCTCCAGCCTCCAAACCTCCAGCCTCAGCCTCCACCCTCCAACCATCCAGCCCTC - LOC100128593 0.114 0.115 0.136 47 134 44 0.121 40 10 3 6 7 51399 chrX 132437337 132437337 G A rs1048369 GPC4 Nonsynonymous SNV A442V 0.34 0.349 0.31 103 399 134 0.264 91 126 47 35 33 24.2 51400 chrX 132438872 132438872 C A rs1129980 GPC4 Nonsynonymous SNV E391D 0.341 0.349 0.282 103 400 134 0.264 83 126 47 31 33 24.8 51401 chr14 101301012 101301012 T C rs10132552 MEG3 0 0 0.197 0 0 0 0 58 0 0 5 0 0.598 51402 chr22 43557156 43557156 C T rs142445069 TSPO Nonsynonymous SNV A94V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 51403 chr22 20114518 20114518 G A rs147326480 RANBP1 Synonymous SNV K260K 0.018 0.013 0.007 7 21 5 0.018 2 0 0 0 0 9.319 51404 chrX 134994005 134994005 T C rs4829799 SAGE1 Nonsynonymous SNV L805S 0.209 0.221 0.204 93 245 85 0.238 60 67 27 19 30 0.004 51405 chr22 20780296 20780296 G A rs9680797 SCARF2 Nonsynonymous SNV P661L 0.03 0.029 0.017 16 35 11 0.041 5 0 0 1 1 Likely benign 23.6 51406 chrX 134994054 134994054 G A rs4829584 SAGE1 Synonymous SNV K821K 0.169 0.182 0.156 74 198 70 0.19 46 53 24 12 21 9.11 51407 chr9 140243968 140243968 C T rs79140116 EXD3 Nonsynonymous SNV V504M 0.075 0.086 0.075 36 88 33 0.092 22 5 1 0 4 0.93 51408 chr14 101349454 101349454 G T rs41286560 RTL1 Nonsynonymous SNV P558T 0.026 0.021 0.027 10 31 8 0.026 8 0 0 0 0 0.391 51409 chrX 135310785 135310785 T C rs2273221 MAP7D3 Nonsynonymous SNV Q593R 0.434 0.461 0.435 176 510 177 0.451 128 189 71 54 68 0.001 51410 chr14 101429459 101429459 G C rs72700530 SNORD114-7 0 0 0.269 0 0 0 0 79 0 0 5 0 2.123 51411 chr14 101442218 101442218 A G rs12893444 SNORD114-18 0 0 0.554 0 0 0 0 163 0 0 37 0 0.658 51412 chr14 101447373 101447373 T C rs34158896 SNORD114-20 0 0 0.269 0 0 0 0 79 0 0 5 0 0.96 51413 chr9 140262424 140262424 C T rs11507683 EXD3 Synonymous SNV A160A 0.058 0.06 0.044 27 68 23 0.069 13 1 1 0 3 14.06 51414 chr14 101522556 101522556 T C rs56103835 MIR323B 0 0 0.204 0 0 0 0 60 0 0 12 0 3.166 51415 chrX 135730555 135730555 T C rs1126535 CD40LG Synonymous SNV L50L 0.129 0.141 0.116 55 151 54 0.141 34 43 14 13 17 Benign 0.186 51416 chrX 136112707 136112707 A G rs5931046 GPR101 Nonsynonymous SNV L376P 0.171 0.156 0.105 57 201 60 0.146 31 51 17 6 16 22.1 51417 chrX 136113464 136113464 C A rs1190736 GPR101 Nonsynonymous SNV V124L 0.429 0.432 0.456 161 504 166 0.413 134 182 61 54 58 23.5 51418 chr22 43870800 43870800 G A rs6003217 MPPED1 Synonymous SNV S197S 0.014 0.01 0.017 4 17 4 0.01 5 0 0 0 0 12.98 51419 chr9 135172412 135172412 A G rs2296869 SETX Synonymous SNV D1937D 0.202 0.266 0.163 101 237 102 0.259 48 17 10 9 7 Benign 8.057 51420 chr9 135173685 135173685 T C rs2296871 SETX Nonsynonymous SNV T1855A 0.202 0.266 0.163 100 237 102 0.256 48 17 10 9 7 Benign 0.002 51421 chr9 139889162 139889162 C A rs149417490 CLIC3 Nonsynonymous SNV A228S 0.018 0.023 0.014 4 21 9 0.01 4 0 0 0 0 23.8 51422 chr9 140509075 140509075 A C rs72765183 ARRDC1 Nonsynonymous SNV N287T 0.036 0.042 0.058 15 42 16 0.038 17 1 0 1 0 24.3 51423 chr22 44178103 44178103 T C rs74957153 EFCAB6 Synonymous SNV V32V 0.073 0.078 0.116 47 86 30 0.121 34 4 1 4 1 7.789 51424 chrX 138679712 138679712 T A rs1051619 MCF2 Synonymous SNV G615G 0.523 0.536 0.486 191 614 206 0.49 143 225 78 61 74 6.578 51425 chr9 135203530 135203530 A C rs3739922 SETX Nonsynonymous SNV F1152C 0.035 0.042 0.034 22 41 16 0.056 10 2 1 1 0 Benign/Likely benign 6.452 51426 chrX 138897130 138897130 A C rs2491014 ATP11C Nonsynonymous SNV C114W 0.945 0.958 0.667 372 1110 368 0.954 196 549 184 96 182 14.73 51427 chr9 139617626 139617626 G A rs7038042 DIPK1B Synonymous SNV E232E 0.179 0.188 0.16 64 210 72 0.164 47 21 5 3 1 0.217 51428 chr9 113196674 113196674 G A rs7853155 SVEP1 Synonymous SNV N1667N 0.059 0.044 0.048 19 69 17 0.049 14 0 0 0 0 9.365 51429 chrX 140714231 140714231 A G rs2239834 LOC645188 Nonsynonymous SNV I54V 0.328 0.328 0.296 121 385 126 0.31 87 117 40 36 39 1.059 51430 chr9 135204050 135204050 C T rs138287942 SETX Nonsynonymous SNV D979N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 51431 chr22 44287629 44287629 G A rs74445350 PNPLA5 Synonymous SNV R44R 0.079 0.081 0.109 49 93 31 0.126 32 4 0 2 3 12.78 51432 chrX 140714251 140714251 A G rs2239835 LOC645188 Synonymous SNV E60E 0.328 0.328 0.296 121 385 126 0.31 87 117 40 36 39 2.455 51433 chr22 44335885 44335885 A G rs144233415 PNPLA3 Nonsynonymous SNV E331G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.38 51434 chr9 135205006 135205006 G C rs882709 SETX Nonsynonymous SNV A660G 0.072 0.086 0.054 37 85 33 0.095 16 3 1 1 1 Benign 8.046 51435 chr9 139641933 139641933 C T rs73554091 LCN6 Nonsynonymous SNV G58E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 20.7 51436 chrX 140994095 140994095 - ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT MAGEC1 S308_S309insRSFSSTLLSIFQSSPERTQSTFEGFPQSLLQIPVS 0.012 0.034 0.031 2 14 13 0.005 9 4 4 4 1 51437 chrX 140994115 140994115 T C rs138660605 MAGEC1 Nonsynonymous SNV S309P 0.046 0.068 0.071 24 54 26 0.062 21 13 7 7 9 0.126 51438 chr9 135277130 135277130 C A rs3739915 TTF1 Nonsynonymous SNV G360V 0.04 0.039 0.044 27 47 15 0.069 13 1 1 0 0 23.4 51439 chrX 140994122 140994122 C T rs1055491 MAGEC1 Nonsynonymous SNV S311F 0.044 0.076 0.078 22 52 29 0.056 23 12 7 8 8 0.003 51440 chr9 113275227 113275227 C T rs10980419 SVEP1 Nonsynonymous SNV G428S 0.01 0.008 0.01 4 12 3 0.01 3 0 0 0 0 24.3 51441 chr9 135458234 135458234 C T rs141976331 BARHL1 Nonsynonymous SNV A17V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 51442 chrX 140994200 140994200 T C rs57227275 MAGEC1 Nonsynonymous SNV L337P 0.025 0.055 0.044 20 29 21 0.051 13 9 7 6 5 0.002 51443 chr9 114090548 114090548 T C rs367920491 OR2K2 Nonsynonymous SNV K56E 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 12.29 51444 chr9 117063396 117063396 G A rs73656040 COL27A1 Synonymous SNV S1582S 0.057 0.063 0.034 17 67 24 0.044 10 2 1 1 0 15.15 51445 chr9 135545995 135545995 G A rs143172300 GTF3C4 Nonsynonymous SNV A4T 0.014 0.01 0.007 0 17 4 0 2 0 0 0 0 17.04 51446 chrX 140994407 140994407 C G rs62611965 MAGEC1 Nonsynonymous SNV S406C 0.052 0.06 0.041 36 61 23 0.092 12 19 8 4 11 20.5 51447 chrX 140994419 140994419 T C rs138268726 MAGEC1 Nonsynonymous SNV I410T 0.052 0.06 0.041 36 61 23 0.092 12 19 8 4 11 7.857 51448 chr9 114453925 114453925 G T rs1322254 SHOC1 Nonsynonymous SNV N1341K 0.011 0.01 0.01 12 13 4 0.031 3 0 0 0 0 6.938 51449 chr9 135977511 135977511 G A rs35267131 RALGDS Synonymous SNV S620S 0.022 0.008 0.02 6 26 3 0.015 6 0 0 0 0 10.07 51450 chrX 140994517 140994517 C G rs62611966 MAGEC1 Nonsynonymous SNV L443V 0.055 0.065 0.048 36 64 25 0.092 14 21 9 5 11 2.566 51451 chr9 14801687 14801687 T C rs10738380 FREM1 Synonymous SNV A1219A 0.247 0.216 0.19 69 290 83 0.177 56 41 7 8 8 Benign 1.626 51452 chrX 140995315 140995315 C T rs56256227 MAGEC1 Nonsynonymous SNV H709Y 0.055 0.07 0.041 36 64 27 0.092 12 20 10 5 11 0.005 51453 chr14 104710518 104710518 C T rs61997090 LINC02691 0 0 0.051 0 0 0 0 15 0 0 0 0 0.483 51454 chr9 139750061 139750061 G A rs138811323 MAMDC4 Synonymous SNV E487E 0.026 0.021 0.014 6 31 8 0.015 4 0 0 0 0 2.088 51455 chr9 136029138 136029138 G A rs35902535 GBGT1 Nonsynonymous SNV A284V 0.08 0.065 0.061 20 94 25 0.051 18 3 2 0 1 9.99 51456 chr9 136029645 136029645 G T rs35898523 GBGT1 Stop gain Y104X 0.089 0.073 0.065 22 105 28 0.056 19 3 2 0 1 35 51457 chr9 114454732 114454732 C T rs12343237 SHOC1 Synonymous SNV P1072P 0.011 0.01 0.01 11 13 4 0.028 3 0 0 0 0 12.03 51458 chr9 136030573 136030573 G A rs35039208 GBGT1 Synonymous SNV A100A 0.018 0.013 0.024 1 21 5 0.003 7 0 0 0 0 23.2 51459 chrX 147088249 147088249 C T rs764631 FMR1NB Nonsynonymous SNV A142V 0.419 0.365 0.306 164 492 140 0.421 90 175 44 31 65 0.003 51460 chrX 148582549 148582549 G A rs1141608 IDS Synonymous SNV T146T 0.342 0.435 0.306 153 402 167 0.392 90 133 61 34 56 Benign 9.299 51461 chrX 148798223 148798223 T C rs2233050 MAGEA11 Synonymous SNV L330L 0.444 0.487 0.364 197 521 187 0.505 107 181 72 43 77 0.079 51462 chr9 114470138 114470138 C T rs7868266 SHOC1 Nonsynonymous SNV R749K 0.013 0.01 0.01 13 15 4 0.033 3 0 0 0 0 17.36 51463 chr9 114475404 114475404 T G rs28551718 SHOC1 Nonsynonymous SNV I719L 0.013 0.01 0.007 14 15 4 0.036 2 0 0 0 0 19.12 51464 chr22 45790596 45790596 C G rs200945078 SMC1B Nonsynonymous SNV E436Q 0 0.01 0 0 0 4 0 0 0 0 0 0 24.5 51465 chr9 114480562 114480562 A G rs1322257 SHOC1 Nonsynonymous SNV I610T 0.013 0.01 0.01 14 15 4 0.036 3 0 0 0 0 12.08 51466 chrX 150817094 150817094 C G rs5924658 PASD1 Nonsynonymous SNV Q213E 0.293 0.336 0.265 98 344 129 0.251 78 100 43 30 30 17.3 51467 chr9 18777422 18777422 G A rs45579937 ADAMTSL1 Synonymous SNV L1065L 0.132 0.133 0.116 50 155 51 0.128 34 11 5 2 2 0.082 51468 chr9 117386731 117386731 G T TMEM268 Nonsynonymous SNV G70C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 51469 chr9 140356721 140356721 C T rs78453847 PNPLA7 Synonymous SNV E1160E 0.006 0.023 0.003 0 7 9 0 1 0 0 0 0 8.018 51470 chr9 139909918 139909918 G A rs189266662 ABCA2 Synonymous SNV D1215D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 0.973 51471 chr9 114510473 114510473 G C rs10981047 SHOC1 Nonsynonymous SNV T187S 0.013 0.01 0.01 13 15 4 0.033 3 0 0 0 0 0.369 51472 chrX 150840916 150840916 C T rs41299110 PASD1 Synonymous SNV L567L 0.342 0.307 0.327 156 402 118 0.4 96 126 36 35 58 1.487 51473 chrX 150912962 150912962 G A rs714147 CNGA2 Nonsynonymous SNV E663K 0.111 0.076 0.068 39 130 29 0.1 20 29 5 6 13 0.1 51474 chr22 24121521 24121521 T C rs28363648 MMP11 Nonsynonymous SNV S86P 0.01 0.016 0.01 4 12 6 0.01 3 0 0 0 0 2.184 51475 chr9 140373607 140373607 C T rs61747526 PNPLA7 Synonymous SNV A863A 0.014 0.031 0.01 7 16 12 0.018 3 0 0 0 0 14.19 51476 chr9 139973582 139973582 C G rs75127829 UAP1L1 Synonymous SNV G275G 0.059 0.049 0.037 22 69 19 0.056 11 2 0 0 0 12.15 51477 chr22 24122877 24122877 G A rs28363661 MMP11 Synonymous SNV E197E 0.01 0.016 0.01 4 12 6 0.01 3 0 0 0 0 8.623 51478 chr22 24125689 24125689 T C rs28382575 MMP11 Synonymous SNV P475P 0.01 0.016 0.01 4 12 6 0.01 3 0 0 0 0 0.016 51479 chr9 136380643 136380643 C G rs149445183 MYMK Synonymous SNV A162A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.4 51480 chr8 94817064 94817064 T C rs117195541 TMEM67 Synonymous SNV D799D 0.025 0.031 0.027 9 29 12 0.023 8 0 0 0 0 Benign 6.228 51481 chr14 105457923 105457923 T A rs61745867 CLBA1 Nonsynonymous SNV F222Y 0.006 0.008 0.017 1 7 3 0.003 5 0 0 0 0 7.05 51482 chr9 140110555 140110555 G A rs62587579 NDOR1 Nonsynonymous SNV V488I 0.039 0.044 0.048 11 46 17 0.028 14 0 0 0 0 6.285 51483 chr9 119065048 119065048 G A rs867538153 PAPPA Nonsynonymous SNV R989Q 0.009 0 0 5 10 0 0.013 0 0 0 0 0 24 51484 chr9 140917779 140917779 G T rs7873074 CACNA1B Nonsynonymous SNV A862S 0.158 0.143 0.085 56 185 55 0.144 25 26 10 3 5 0.843 51485 chr9 21333254 21333254 T C rs41270133 KLHL9 Synonymous SNV Q535Q 0.071 0.073 0.065 29 83 28 0.074 19 4 1 0 1 0.003 51486 chr14 105722829 105722829 A T BRF1 Nonsynonymous SNV F166Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.978 51487 chrX 152663377 152663377 G C rs11156587 PNMA6E Nonsynonymous SNV P311A 0.558 0.57 0 213 655 219 0.546 0 253 90 0 86 0.408 51488 chr9 140123103 140123103 C T rs750218981 RNF224 Synonymous SNV L12L 0.003 0 0 0 4 0 0 0 0 0 0 0 12.19 51489 chrX 152721728 152721728 T C rs41311378 HAUS7 Nonsynonymous SNV T244A 0.026 0.042 0.02 10 30 16 0.026 6 6 5 2 1 0.002 51490 chrX 152770230 152770230 G A rs4833 BGN Synonymous SNV S47S 0.46 0.414 0.32 165 540 159 0.423 94 184 55 32 60 5.425 51491 chr9 214804 214804 A G rs76707254 DOCK8-AS1 0.152 0.167 0.112 54 179 64 0.138 33 11 3 5 8 Benign 12.66 51492 chr14 105954687 105954687 G T rs7824 CRIP1 Nonsynonymous SNV C52F 0.004 0.005 0.017 2 5 2 0.005 5 0 0 0 0 Benign 26.8 51493 chr9 14720357 14720357 C T rs7036635 CER1 Nonsynonymous SNV V179I 0.102 0.076 0.078 34 120 29 0.087 23 8 0 1 1 23.5 51494 chr9 137642654 137642654 G A rs61735045 COL5A1 Nonsynonymous SNV G530S 0.062 0.057 0.051 17 73 22 0.044 15 2 0 0 0 Benign/Likely benign 24.9 51495 chr9 140138212 140138212 G A rs4073101 FAM166A Synonymous SNV F298F 0.02 0.013 0.017 7 23 5 0.018 5 0 0 0 0 0.026 51496 chr9 137686951 137686951 G A rs41310207 COL5A1 Synonymous SNV P908P 0.046 0.042 0.054 11 54 16 0.028 16 0 0 0 0 Benign/Likely benign 13.9 51497 chr9 14722616 14722616 G A rs10115703 CER1 Nonsynonymous SNV R19W 0.103 0.076 0.078 34 121 29 0.087 23 8 0 1 1 0.381 51498 chr9 2191309 2191309 C G rs2296212 SMARCA2 Nonsynonymous SNV D204E 0.135 0.146 0.139 47 158 56 0.121 41 8 6 2 1 Benign 16.74 51499 chr9 140174257 140174257 C T rs138639039 TOR4A Synonymous SNV V372V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 8.958 51500 chr9 140242564 140242564 G A rs28671254 EXD3 Nonsynonymous SNV R653C 0.04 0.057 0.054 15 47 22 0.038 16 2 2 0 1 23.1 51501 chrX 153041868 153041868 T A rs146832392 PLXNB3 Nonsynonymous SNV V1596E 0.049 0.055 0.065 30 57 21 0.077 19 15 4 8 8 23.5 51502 chr22 46760102 46760102 C T rs6008778 CELSR1 Synonymous SNV T2942T 0.014 0.018 0.02 6 16 7 0.015 6 0 0 0 0 13.81 51503 chr8 97156855 97156855 G A rs140782427 GDF6 Nonsynonymous SNV A435V 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 51504 chr9 124794020 124794020 G T rs61740840 TTLL11 Nonsynonymous SNV F315L 0.018 0.005 0 2 21 2 0.005 0 1 0 0 0 22.8 51505 chr9 14797516 14797516 A T rs7025814 FREM1 Nonsynonymous SNV D1273E 0.022 0.023 0.02 11 26 9 0.028 6 0 0 0 0 Benign 26.5 51506 chr22 46761135 46761135 G T rs9627424 CELSR1 Synonymous SNV T2849T 0.015 0.018 0.017 5 18 7 0.013 5 1 0 0 0 1.486 51507 chrX 153170995 153170995 G A rs2071126 AVPR2 Nonsynonymous SNV G12E 0.033 0.018 0.01 21 39 7 0.054 3 8 2 0 7 Benign 0.01 51508 chrX 153171993 153171993 A G rs5201 AVPR2 Synonymous SNV L309L 0.36 0.346 0.289 116 423 133 0.297 85 135 42 32 38 Benign 0.004 51509 chr9 2635545 2635545 G A rs6149 VLDLR Nonsynonymous SNV V59I 0.012 0.013 0.007 5 14 5 0.013 2 0 0 0 0 Benign/Likely benign 16.1 51510 chrX 153172059 153172059 C T rs5202 AVPR2 Synonymous SNV S331S 0.032 0.018 0.02 20 38 7 0.051 6 8 2 1 7 Benign 9.415 51511 chr9 26995787 26995787 G A rs41272237 LRRC19 Nonsynonymous SNV T282M 0.065 0.039 0.088 26 76 15 0.067 26 2 0 0 2 4.1 51512 chr9 27009100 27009100 T C rs17694549 IFT74 Nonsynonymous SNV F224L 0.066 0.042 0.085 27 78 16 0.069 25 2 0 0 2 16.74 51513 chr9 14842658 14842658 C G rs41298151 FREM1 Nonsynonymous SNV G465A 0.021 0.023 0.031 5 25 9 0.013 9 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 51514 chr9 117044843 117044843 C T rs116496505 COL27A1 Nonsynonymous SNV T1293M 0.012 0.018 0.027 6 14 7 0.015 8 0 0 1 0 25 51515 chr9 140323353 140323353 C T rs775727901 NOXA1 Nonsynonymous SNV S130L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.5 51516 chrX 153284454 153284454 G A IRAK1 Nonsynonymous SNV P171L 0.012 0.003 0 9 14 1 0.023 0 2 0 0 4 6.252 51517 chr8 99039774 99039774 C T rs2290466 MATN2 Synonymous SNV A650A 0.104 0.104 0.092 34 122 40 0.087 27 8 2 1 2 16.66 51518 chr9 138587028 138587028 G A rs550754812 SOHLH1 Nonsynonymous SNV S248L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.064 51519 chr22 46859752 46859752 G A rs372301409 CELSR1 Synonymous SNV N1345N 0 0.01 0 0 0 4 0 0 0 0 0 0 6.607 51520 chrX 153418541 153418541 T G rs949431 OPN1LW Nonsynonymous SNV S180A 0.147 0.172 0.279 75 172 66 0.192 82 50 20 29 26 Benign 0.002 51521 chr22 26348337 26348337 G A MYO18B Nonsynonymous SNV C1974Y 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 26.3 51522 chrX 153667176 153667176 T C rs4834 GDI1 Synonymous SNV N73N 0.112 0.081 0.126 30 132 31 0.077 37 38 8 12 8 Benign 5.363 51523 chr9 140468827 140468827 C T DPH7 Nonsynonymous SNV G24E 0.003 0 0 0 3 0 0 0 0 0 0 0 7.313 51524 chrX 153693153 153693153 C T PLXNA3 Nonsynonymous SNV T662M 0.003 0.008 0 2 4 3 0.005 0 1 1 0 0 not provided 13.5 51525 chr22 47059056 47059056 C T rs145387351 GRAMD4 Synonymous SNV L222L 0.004 0.013 0.003 3 5 5 0.008 1 0 0 0 0 11.3 51526 chr22 47108189 47108189 C T rs9616101 CERK Synonymous SNV T127T 0.053 0.078 0.061 20 62 30 0.051 18 3 1 0 0 0.359 51527 chr9 139273339 139273339 T G rs117208709 SNAPC4 Nonsynonymous SNV R980S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 51528 chr9 332450 332450 C T rs367543787 DOCK8 Nonsynonymous SNV T298M 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Likely benign 9.689 51529 chr22 26899695 26899695 G A rs74334826 TFIP11 Synonymous SNV S164S 0.01 0.01 0.017 9 12 4 0.023 5 0 0 0 0 8.678 51530 chrX 16168467 16168467 T C rs4986945 GRPR Synonymous SNV S151S 0.284 0.279 0.293 138 333 107 0.354 86 98 36 33 50 2.004 51531 chr9 101797330 101797330 C T rs41308900 COL15A1 Nonsynonymous SNV P705L 0.013 0.018 0.02 5 15 7 0.013 6 0 0 0 0 24.5 51532 chr9 19446327 19446327 G A ACER2 Stop gain W184X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 42 51533 chrX 16887655 16887655 C T rs67984110 RBBP7 Nonsynonymous SNV R37H 0.491 0.51 0.429 182 577 196 0.467 126 207 80 50 70 23.3 51534 chrX 17743822 17743822 G A rs146437542 NHS Synonymous SNV E334E 0.004 0.01 0 2 5 4 0.005 0 0 1 0 1 Benign 0.031 51535 chr9 117810651 117810651 G A rs146504512 TNC Synonymous SNV T1580T 0.006 0.018 0.01 2 7 7 0.005 3 0 0 0 0 Benign 1.089 51536 chr9 102590615 102590615 - CAC rs754845671 NR4A3 H108_Q109insH 0.003 0.003 0 0 3 1 0 0 0 0 0 0 51537 chr9 33971740 33971740 A G rs3739690 UBAP2 Synonymous SNV P158P 0.266 0.292 0.255 112 312 112 0.287 75 42 14 9 13 6.317 51538 chrX 18342034 18342034 G A rs3213544 SCML2 Synonymous SNV D114D 0.267 0.305 0.289 79 314 117 0.203 85 90 38 34 28 5.495 51539 chr9 2073292 2073292 A G rs13288443 SMARCA2 Synonymous SNV P609P 0.062 0.057 0.075 30 73 22 0.077 22 2 1 0 1 Benign 9.405 51540 chr9 14784389 14784389 G A rs41265306 FREM1 Nonsynonymous SNV T1474I 0.026 0.039 0.024 6 31 15 0.015 7 0 1 0 0 Benign 11.42 51541 chrX 18638082 18638082 A C rs35478150 CDKL5 Nonsynonymous SNV Q791P 0.06 0.052 0.041 21 70 20 0.054 12 15 7 2 7 Benign 23.1 51542 chr9 139358899 139358899 C T rs142408856 SEC16A Synonymous SNV P1473P 0.042 0.016 0.041 5 49 6 0.013 12 1 0 0 0 12.62 51543 chr14 20924167 20924167 G C rs1048945 APEX1 Nonsynonymous SNV Q51H 0.015 0.026 0.034 10 18 10 0.026 10 1 0 0 0 17.36 51544 chr22 50488547 50488547 G A rs117334902 TTLL8 Nonsynonymous SNV R97W 0.03 0.029 0.027 9 35 11 0.023 8 0 1 0 0 20.3 51545 chr9 34107505 34107505 C T rs11557154 DCAF12 Nonsynonymous SNV R131Q 0.15 0.161 0.156 75 176 62 0.192 46 16 1 3 7 26.9 51546 chr9 102991994 102991994 T C rs374420212 INVS Nonsynonymous SNV L167P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 27.1 51547 chrX 20071046 20071046 T C rs34519770 MAP7D2 Nonsynonymous SNV N182S 0.244 0.271 0.211 115 287 104 0.295 62 86 35 23 41 0.521 51548 chr9 34257095 34257095 G A rs41274041 KIF24 Nonsynonymous SNV S837F 0.139 0.141 0.146 50 163 54 0.128 43 14 8 3 4 16.69 51549 chr9 139369212 139369212 G A rs17567909 SEC16A Synonymous SNV P952P 0.149 0.167 0.167 60 175 64 0.154 49 17 9 5 6 9.927 51550 chrX 20134980 20134980 G A rs17523345 MAP7D2 Synonymous SNV G6G 0.2 0.208 0.116 101 235 80 0.259 34 70 25 11 39 9.237 51551 chr9 21008064 21008064 T C rs763208548 HACD4 Nonsynonymous SNV Y191C 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 18.18 51552 chr14 21074397 21074397 G A rs34721081 LOC254028 0 0 0.126 0 0 0 0 37 0 0 2 0 8.184 51553 chr9 21029330 21029330 T C rs2298260 HACD4 Nonsynonymous SNV T36A 0.319 0.315 0.354 122 375 121 0.313 104 57 21 19 22 10.14 51554 chr14 21074427 21074427 C A rs75294609 LOC254028 0 0 0.102 0 0 0 0 30 0 0 1 0 8.655 51555 chrX 22291606 22291606 C A rs5951426 CBLL2 Nonsynonymous SNV D166E 0.134 0.148 0.211 51 157 57 0.131 62 45 14 24 17 0.065 51556 chr9 34311020 34311020 T C rs41274845 KIF24 Nonsynonymous SNV R109G 0.07 0.068 0.082 33 82 26 0.085 24 3 2 0 2 8.545 51557 chrX 22291732 22291732 C T rs6629461 CBLL2 Synonymous SNV I208I 0.147 0.167 0.201 59 172 64 0.151 59 49 16 22 20 7.097 51558 chr9 34379692 34379692 C T rs3737242 C9orf24 Nonsynonymous SNV C61Y 0.137 0.138 0.156 50 161 53 0.128 46 14 8 4 4 19.64 51559 chrX 23722835 23722835 A G rs11175 ACOT9 Synonymous SNV L343L 0.187 0.167 0.16 84 220 64 0.215 47 57 20 17 31 8.486 51560 chr9 16435714 16435714 T C rs3739715 BNC2 Synonymous SNV L784L 0.135 0.141 0.156 61 158 54 0.156 46 8 7 1 3 not provided 0.789 51561 chr9 23762176 23762176 G A rs73654364 ELAVL2 Synonymous SNV T19T 0.026 0.031 0.044 10 31 12 0.026 13 0 0 0 0 1.188 51562 chr9 125512943 125512943 C T rs117703463 OR1L6 Nonsynonymous SNV R273W 0.014 0.018 0.007 4 17 7 0.01 2 0 0 0 0 23.2 51563 chr9 1051930 1051930 C G rs112585712 DMRT2 Nonsynonymous SNV T106S 0.077 0.089 0.034 40 90 34 0.103 10 3 1 1 1 1.611 51564 chr9 35560352 35560357 GAAGAG - rs145749994 RUSC2 E367_E368del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 51565 chrX 27839572 27839572 T C rs1368769 MAGEB10 Nonsynonymous SNV F50S 0.556 0.56 0.578 239 653 215 0.613 170 247 81 69 93 0.002 51566 chrX 27839617 27839617 G A rs12557898 MAGEB10 Nonsynonymous SNV R65Q 0.527 0.536 0.561 223 619 206 0.572 165 230 77 67 86 0.001 51567 chr9 19093287 19093287 A G rs41269011 HAUS6 Synonymous SNV S106S 0.092 0.089 0.129 24 108 34 0.062 38 12 2 1 1 7.276 51568 chr9 27190655 27190655 G A rs1334811 TEK Nonsynonymous SNV V339I 0.132 0.112 0.112 59 155 43 0.151 33 8 1 4 3 Benign 20.4 51569 chr22 30890886 30890886 G A rs55650691 SEC14L4 Synonymous SNV H162H 0.02 0.042 0.041 12 24 16 0.031 12 0 1 0 0 10.49 51570 chr22 30891300 30891300 G A rs77679347 SEC14L4 Nonsynonymous SNV R122W 0.02 0.042 0.037 11 24 16 0.028 11 0 1 0 0 28 51571 chrX 2867372 2867372 A T rs760193495 ARSL Nonsynonymous SNV L222Q 0.003 0.005 0 0 4 2 0 0 0 1 0 0 23.1 51572 chr9 20414376 20414376 - CTG MLLT3 S187_T188insS 0.003 0 0.003 0 4 0 0 1 0 0 0 0 51573 chr22 50927694 50927694 G A rs369422809 MIOX Nonsynonymous SNV D186N 0.003 0 0 4 4 0 0.01 0 0 0 0 0 16.22 51574 chr9 2076255 2076255 G A rs151212782 SMARCA2 Synonymous SNV Q654Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 10.72 51575 chr9 35740222 35740222 C T rs79325774 GBA2 Nonsynonymous SNV G423S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 15.86 51576 chr14 21793226 21793226 A G rs774600464 RPGRIP1 Nonsynonymous SNV I738V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 51577 chr9 35818996 35818996 G A rs10972591 FAM221B Synonymous SNV C354C 0.014 0.018 0.031 6 16 7 0.015 9 0 0 1 0 7.623 51578 chr9 35819261 35819261 G A rs368030948 FAM221B Synonymous SNV A328A 0.003 0 0 0 4 0 0 0 0 0 0 0 9.863 51579 chr9 32542204 32542204 A G rs10971019 TOPORS Synonymous SNV S708S 0.231 0.219 0.231 84 271 84 0.215 68 28 13 7 15 Benign 0.59 51580 chr9 35825982 35825982 C T rs77160300 FAM221B Synonymous SNV V59V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.86 51581 chr9 32630472 32630472 T C rs10758145 TAF1L Synonymous SNV K1702K 0.209 0.206 0.18 67 245 79 0.172 53 28 11 5 7 2.941 51582 chr9 139911571 139911571 G A rs144508979 ABCA2 Synonymous SNV L853L 0.014 0.005 0.007 4 17 2 0.01 2 0 0 0 0 0.37 51583 chr9 2110400 2110400 G A rs886041299 SMARCA2 Nonsynonymous SNV D1147N 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 34 51584 chr9 32631369 32631369 C T rs10971047 TAF1L Synonymous SNV T1403T 0.095 0.107 0.068 23 111 41 0.059 20 3 1 0 0 14.46 51585 chr9 33240216 33240216 C T rs141303226 SPINK4 Nonsynonymous SNV R4C 0.012 0.016 0.003 1 14 6 0.003 1 0 0 0 0 23.8 51586 chr9 139915940 139915940 A C rs80138802 ABCA2 Synonymous SNV A267A 0.022 0.029 0.014 5 26 11 0.013 4 0 1 0 0 0.004 51587 chr9 35906592 35906592 - CCT rs748727626 HRCT1 H103_H104insL 0.005 0.003 0 0 6 1 0 0 0 0 0 0 51588 chr9 35906595 35906595 - CCACCACCC HRCT1 H105_P106insHPH 0.006 0.003 0 0 7 1 0 0 0 0 0 0 51589 chr9 215228 215228 C G rs112809777 DOCK8-AS1 0.012 0.008 0 2 14 3 0.005 0 0 0 0 0 22.7 51590 chr9 33369943 33369943 G A rs2230122 NFX1 Synonymous SNV E1111E 0.113 0.081 0.112 48 133 31 0.123 33 8 0 3 5 12.29 51591 chr9 108234294 108234294 A G rs34998811 FSD1L Nonsynonymous SNV K118R 0.089 0.096 0.102 50 104 37 0.128 30 7 0 2 5 2.428 51592 chr14 22887730 22887730 A G rs2301201 LOC105370401 0 0 0.194 0 0 0 0 57 0 0 3 0 4.304 51593 chr14 23025946 23025946 C T rs74036418 LINC02332 0 0 0.095 0 0 0 0 28 0 0 4 0 5.999 51594 chr9 36846910 36846910 C T rs35469494 PAX5 Nonsynonymous SNV G266E 0.033 0.036 0.041 11 39 14 0.028 12 0 0 0 0 not provided 12.5 51595 chrX 37701048 37701048 G A rs11771 DYNLT3 Synonymous SNV A61A 0.13 0.138 0.143 87 153 53 0.223 42 38 13 12 28 Benign 7.767 51596 chr9 34306378 34306378 G A rs775329733 KIF24 Stop gain R229X 0.005 0.003 0 0 6 1 0 0 0 0 0 0 37 51597 chr9 25678177 25678177 - CGC TUSC1 G47_V48insG 0.061 0.052 0.051 24 72 20 0.062 15 1 1 0 1 51598 chrX 3002687 3002687 A G rs5983003 ARSF Synonymous SNV E270E 0.673 0.682 0.609 231 790 262 0.592 179 318 110 79 94 0.588 51599 chrX 37967868 37967868 T C rs5918476 SYTL5 Synonymous SNV Y472Y 0.319 0.315 0.327 110 374 121 0.282 96 119 39 37 40 0.103 51600 chrX 38009121 38009121 G A rs35318931 SRPX Nonsynonymous SNV S393F 0.038 0.031 0.027 8 45 12 0.021 8 10 4 3 2 23.1 51601 chr22 32110988 32110988 G A rs117343825 PRR14L Nonsynonymous SNV P946L 0.025 0.029 0.017 5 29 11 0.013 5 0 0 0 0 0.15 51602 chrX 40450585 40450585 C G rs9014 ATP6AP2 Nonsynonymous SNV P90A 0.072 0.06 0.037 29 84 23 0.074 11 21 7 2 7 Benign 0.208 51603 chr9 111665889 111665889 T C rs138192941 ELP1 Synonymous SNV S219S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.447 51604 chrX 6995417 6995417 C T rs2379207 PUDP Synonymous SNV A118A 0.21 0.208 0.201 75 246 80 0.192 59 65 22 18 20 14.16 51605 chrX 6995438 6995438 C T rs1803675 PUDP Synonymous SNV L111L 0.227 0.227 0.224 81 266 87 0.208 66 74 25 21 22 7.227 51606 chr9 34649442 34649442 A G rs2070074 GALT Nonsynonymous SNV N205D 0.114 0.104 0.122 36 134 40 0.092 36 6 1 3 1 Conflicting interpretations of pathogenicity, other 10.35 51607 chr22 32113164 32113164 T G rs117519233 PRR14L Nonsynonymous SNV S221R 0.039 0.031 0.024 10 46 12 0.026 7 2 0 0 0 24.5 51608 chrX 7023678 7023678 G A rs1131197 PUDP Nonsynonymous SNV T88M 0.21 0.206 0.146 75 246 79 0.192 43 65 22 14 20 23.5 51609 chr9 34661994 34661994 G A rs11575584 CCL27 Nonsynonymous SNV L96F 0.067 0.057 0.058 19 79 22 0.049 17 2 0 1 0 10.17 51610 chr22 32211412 32211412 A C rs5749334 DEPDC5 Synonymous SNV G559G 0.105 0.078 0.099 42 123 30 0.108 29 57 13 7 16 0.028 51611 chrX 9914947 9914947 G C rs2073942 SHROOM2 Nonsynonymous SNV L442F 0.365 0.305 0.282 139 428 117 0.356 83 139 37 32 49 0.022 51612 chr22 32239739 32239739 G A rs118001924 DEPDC5 Synonymous SNV E836E 0.026 0.031 0.02 7 31 12 0.018 6 0 0 0 0 Benign 9.577 51613 chrX 44929077 44929077 C A rs2230018 KDM6A Nonsynonymous SNV T647K 0.084 0.094 0.085 26 99 36 0.067 25 23 11 8 7 Benign 12.91 51614 chr9 34889374 34889374 G A rs2242429 FAM205C Nonsynonymous SNV A335V 0.155 0.154 0 59 182 59 0.151 0 15 5 0 6 3.003 51615 chr9 35403994 35403994 C G UNC13B Synonymous SNV L1210L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.799 51616 chrX 45051111 45051111 C T rs1132201 DIPK2B Nonsynonymous SNV R128K 0.305 0.302 0.327 127 358 116 0.326 96 120 38 35 41 10.21 51617 chr9 35906583 35906583 - CCACCACCA HRCT1 H105_P106insHHH 0 0.003 0 0 0 1 0 0 0 0 0 0 51618 chr9 36083541 36083541 A G rs144022766 RECK Nonsynonymous SNV M207V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 5.869 51619 chrX 47444985 47444985 T C rs4898 TIMP1 Synonymous SNV F124F 0.436 0.411 0.425 165 512 158 0.423 125 178 56 50 57 0.167 51620 chrX 12924826 12924826 A G rs3764880 TLR8 Star tloss M1? 0.372 0.38 0.429 135 437 146 0.346 126 139 53 49 46 0.001 51621 chrX 47919485 47919485 A T rs193081656 ZNF630 Nonsynonymous SNV L116I 0.02 0.016 0 6 24 6 0.015 0 5 2 0 3 0.169 51622 chr22 33828243 33828243 C G rs145594612 LARGE1 Nonsynonymous SNV V266L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Uncertain significance 25.9 51623 chrX 12937513 12937513 C T rs2159377 TLR8 Synonymous SNV D118D 0.215 0.234 0.231 82 252 90 0.21 68 72 27 26 26 9.764 51624 chr9 36191149 36191149 T C rs2274524 CLTA Synonymous SNV A32A 0.088 0.057 0.061 45 103 22 0.115 18 9 0 0 3 10.88 51625 chrX 48317386 48317386 A G rs17281188 SLC38A5 Nonsynonymous SNV M451T 0.091 0.083 0.071 38 107 32 0.097 21 27 10 6 10 Benign 22.9 51626 chr9 32634467 32634467 T C rs17219559 TAF1L Nonsynonymous SNV M371V 0.124 0.112 0.116 42 145 43 0.108 34 8 2 2 2 16.47 51627 chr9 125863896 125863896 C T rs145451585 RABGAP1 Nonsynonymous SNV R981C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 24.8 51628 chr9 4662394 4662394 A G rs34250374 PLPP6 Nonsynonymous SNV S7G 0.116 0.086 0.048 42 136 33 0.108 14 19 1 1 4 6.527 51629 chr9 3271018 3271018 G A rs41314211 RFX3 Nonsynonymous SNV T396I 0.017 0.008 0.024 0 20 3 0 7 0 0 0 0 Benign 20.4 51630 chrX 13645396 13645396 G C EGFL6 0.003 0.005 0 0 4 2 0 0 0 1 0 0 19.96 51631 chr9 126132760 126132760 T G rs142345530 CRB2 Synonymous SNV T476T 0.013 0.021 0.014 1 15 8 0.003 4 0 0 0 0 Benign 1.544 51632 chrX 48924896 48924896 C A rs55654138 CCDC120 Nonsynonymous SNV L416M 0.039 0.049 0.031 14 46 19 0.036 9 11 6 2 4 11.78 51633 chr22 35660648 35660648 G A rs61752255 HMGXB4 Synonymous SNV S89S 0.008 0.013 0.02 6 9 5 0.015 6 0 0 0 0 7.666 51634 chr22 35743178 35743178 T C rs140465923 TOM1 Synonymous SNV D440D 0.008 0.016 0.017 6 9 6 0.015 5 0 0 0 0 0.719 51635 chr22 35813767 35813767 G A rs138322887 MCM5 Nonsynonymous SNV V541M 0 0.003 0 3 0 1 0.008 0 0 0 0 0 17.8 51636 chr14 23574113 23574113 A - rs57331962 LMLN2 L6Rfs*9 0 0 0.622 0 0 0 0 183 0 0 67 0 51637 chrX 15381416 15381416 C G VEGFD Nonsynonymous SNV R39P 0.003 0.005 0 0 3 2 0 0 0 1 0 0 23.1 51638 chr14 23574115 23574116 CA - rs55686792 LMLN2 L5Pfs*21 0 0 0.626 0 0 0 0 184 0 0 67 0 51639 chrX 50350674 50350674 T C rs3747282 SHROOM4 Synonymous SNV E1156E 0.407 0.401 0.303 144 478 154 0.369 89 160 57 35 55 Benign 0.035 51640 chrX 15768105 15768105 C - rs755418977 CA5BP1-CA5B 0.003 0 0 5 3 0 0.013 0 1 0 0 2 51641 chr9 33470111 33470111 G A rs143770889 NOL6 Nonsynonymous SNV R153C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.1 51642 chrX 50350728 50350728 - TCC rs143151534 SHROOM4 E1151_A1152insE 0.37 0.357 0.092 136 434 137 0.349 27 148 50 9 52 51643 chr9 37948724 37948724 T C rs3827519 SHB Synonymous SNV G418G 0.124 0.117 0.15 51 145 45 0.131 44 7 0 2 1 1.212 51644 chrX 50350758 50350758 - TGCTGCTGCTGT rs201922875 SHROOM4 Q1128_K1129insQQQQ 0.423 0.414 0.235 144 497 159 0.369 69 174 58 28 54 51645 chr9 140777299 140777299 G T rs71238527 CACNA1B Nonsynonymous SNV G165V 0.102 0.107 0.112 45 120 41 0.115 33 0 0 0 0 11.35 51646 chrX 53277307 53277307 G T rs146979083 IQSEC2 Synonymous SNV I857I 0.009 0.005 0 5 10 2 0.013 0 1 1 0 1 Benign/Likely benign 8.643 51647 chrX 18230715 18230715 A C rs17274127 BEND2 Nonsynonymous SNV F154L 0.221 0.263 0.235 76 259 101 0.195 69 74 32 26 28 0.001 51648 chrX 54209302 54209302 - GGCGGC rs781789688 FAM120C P111_Q112insPP 0.226 0.177 0.221 70 265 68 0.179 65 79 19 23 23 51649 chr9 34256375 34256375 G T rs34101674 KIF24 Nonsynonymous SNV T1077K 0.046 0.026 0.024 8 54 10 0.021 7 0 0 0 1 0.019 51650 chr9 34256539 34256539 A G rs36025573 KIF24 Synonymous SNV T1022T 0.049 0.026 0.051 16 58 10 0.041 15 0 0 0 1 0.002 51651 chr9 72131141 72131141 G A rs754033623 APBA1 Nonsynonymous SNV A329V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.004 51652 chr9 34306262 34306262 T C rs549145016 KIF24 Synonymous SNV Q267Q 0.003 0 0 0 3 0 0 0 0 0 0 0 1.506 51653 chr9 72517293 72517293 G T rs11140833 C9orf135 Nonsynonymous SNV K111N 0.063 0.052 0.027 19 74 20 0.049 8 1 0 0 1 0.959 51654 chrX 55514818 55514818 C T rs3126255 USP51 Synonymous SNV E185E 0.514 0.529 0.459 210 604 203 0.538 135 214 76 56 84 1.222 51655 chrX 21886620 21886620 A G rs369520528 MBTPS2 Nonsynonymous SNV I236V 0.003 0.005 0 0 4 2 0 0 0 1 0 0 Uncertain significance 11.69 51656 chrX 23353085 23353085 G A rs12014412 PTCHD1 Synonymous SNV A31A 0.034 0.052 0.027 26 40 20 0.067 8 9 8 2 9 Benign 12.72 51657 chr9 34400980 34400980 G A rs117759827 FAM219A Synonymous SNV T180T 0.013 0.005 0.027 8 15 2 0.021 8 0 0 0 0 15.19 51658 chr9 34500821 34500821 G A rs11793196 DNAI1 Nonsynonymous SNV V339I 0.123 0.12 0.126 33 144 46 0.085 37 11 3 3 2 Benign/Likely benign 24.8 51659 chrX 57475132 57475132 T C rs1367830 FAAH2 Synonymous SNV P428P 0.536 0.589 0.473 234 629 226 0.6 139 229 91 58 95 Benign 0.597 51660 chr14 24567486 24567486 G A rs749499634 PCK2 Nonsynonymous SNV R117Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 51661 chrX 25025355 25025355 - GGC rs398124508 ARX A440_F441insA 0 0.005 0 0 0 2 0 0 0 1 0 0 51662 chr9 4618874 4618874 G C rs147973115 SPATA6L Nonsynonymous SNV A175G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.6 51663 chrX 30254361 30254361 G A rs2071308 MAGEB3 Nonsynonymous SNV R107H 0.497 0.539 0.548 195 584 207 0.5 161 210 80 66 76 0.001 51664 chrX 66765627 66765627 G A rs6152 AR Synonymous SNV E213E 0.136 0.141 0.167 61 160 54 0.156 49 35 14 18 22 Benign 3.768 51665 chr14 24606949 24606949 G T rs150529650 PSME1 Synonymous SNV V111V 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 7.037 51666 chrX 68381165 68381165 G C rs142769836 PJA1 Nonsynonymous SNV F584L 0.012 0.01 0 1 14 4 0.003 0 1 1 0 0 Benign 0.413 51667 chrX 30254530 30254530 A G rs2071310 MAGEB3 Synonymous SNV V163V 0.497 0.542 0.548 195 584 208 0.5 161 210 81 66 76 0.465 51668 chrX 68381264 68381264 C A rs11539157 PJA1 Nonsynonymous SNV E551D 0.193 0.211 0.204 79 227 81 0.203 60 59 26 20 25 8.918 51669 chr9 116130593 116130593 T C rs577779388 BSPRY Synonymous SNV F209F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 7.561 51670 chrX 68381787 68381787 C T rs5937160 PJA1 Nonsynonymous SNV S377N 0.195 0.211 0.204 79 229 81 0.203 60 59 26 20 25 6.803 51671 chrX 30326983 30326983 C T rs2269345 NR0B1 Synonymous SNV R166R 0.193 0.19 0.201 70 227 73 0.179 59 54 25 24 21 Benign 7.949 51672 chrX 68382836 68382836 G A rs7067170 PJA1 Synonymous SNV S27S 0.193 0.208 0.204 80 226 80 0.205 60 59 25 20 25 3.648 51673 chrX 68725383 68725383 G A rs187723921 FAM155B Synonymous SNV R86R 0.05 0.052 0.024 26 59 20 0.067 7 17 6 2 9 0.049 51674 chr9 35704150 35704150 C T rs10814270 TLN1 Synonymous SNV A2023A 0.061 0.049 0.061 27 72 19 0.069 18 2 1 1 0 17.14 51675 chr9 116191187 116191187 C T rs143283507 C9orf43 Nonsynonymous SNV T372M 0.014 0.026 0.014 11 17 10 0.028 4 0 1 0 0 22.8 51676 chr9 35825596 35825596 C T rs907721681 FAM221B Nonsynonymous SNV S188N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.976 51677 chr9 6015178 6015178 G A rs770136669 RANBP6 Nonsynonymous SNV L144F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.8 51678 chrX 69645230 69645230 C T rs45513993 GDPD2 Synonymous SNV L44L 0.096 0.125 0.058 58 113 48 0.149 17 24 15 5 16 13.68 51679 chrX 69647169 69647169 T C rs5980939 GDPD2 Synonymous SNV D185D 0.101 0.141 0.058 59 118 54 0.151 17 25 18 5 16 0.003 51680 chrX 32380996 32380996 C T rs1801187 DMD Nonsynonymous SNV R404H 0.481 0.474 0.367 174 565 182 0.446 108 197 70 44 66 Benign 32 51681 chr9 710966 710966 G A rs7860464 KANK1 Nonsynonymous SNV R67Q 0.006 0.013 0.024 6 7 5 0.015 7 0 0 1 0 19.31 51682 chr9 75407159 75407159 T C rs17058153 TMC1 Nonsynonymous SNV M486T 0.03 0.044 0.031 17 35 17 0.044 9 0 0 0 1 Benign/Likely benign 13.94 51683 chr9 711396 711396 C G rs28374506 KANK1 Nonsynonymous SNV H52Q 0.006 0.013 0.024 6 7 5 0.015 7 0 0 1 0 0.307 51684 chr14 24806902 24806902 G A rs34106261 RIPK3 Nonsynonymous SNV T300M 0.06 0.023 0.078 16 70 9 0.041 23 0 0 1 0 0.001 51685 chr9 36058897 36058897 T C rs761385581 RECK Nonsynonymous SNV M78T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.15 51686 chr14 24807221 24807221 G A rs56337365 RIPK3 Synonymous SNV Y230Y 0.059 0.023 0.078 16 69 9 0.041 23 0 0 1 0 0.533 51687 chr9 71606067 71606067 C T rs138209413 PIP5K1B Nonsynonymous SNV P505L 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 23.8 51688 chr14 24808388 24808388 A G rs3181247 RIPK3 Synonymous SNV L102L 0.06 0.023 0.078 17 71 9 0.044 23 0 0 1 0 3.293 51689 chr9 130476667 130476667 G C rs61745122 PTRH1 Stop gain S118X 0.052 0.07 0.024 13 61 27 0.033 7 1 3 0 0 9.676 51690 chr14 24845543 24845543 T C rs2228232 NFATC4 Synonymous SNV G700G 0.083 0.047 0.071 26 97 18 0.067 21 4 0 1 3 1.854 51691 chrX 70323923 70323923 G A CXorf65 Nonsynonymous SNV R156C 0.002 0 0 5 2 0 0.013 0 0 0 0 2 25.9 51692 chr9 78925765 78925765 G A rs61744750 PCSK5 Synonymous SNV P1267P 0.056 0.063 0.054 21 66 24 0.054 16 0 2 0 1 1.39 51693 chr9 72132085 72132085 G A rs377302674 APBA1 Synonymous SNV D14D 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 5.048 51694 chrX 70367777 70367777 A G NLGN3 Nonsynonymous SNV S60G 0.002 0 0 5 2 0 0.013 0 0 0 0 2 22.5 51695 chrX 70601705 70601705 C G rs28382162 TAF1 Synonymous SNV A491A 0.03 0.026 0.031 12 35 10 0.031 9 9 4 4 3 12.34 51696 chrX 70888484 70888484 G A rs6418435 LOC101059915 Synonymous SNV P277P 0.997 1 0.439 389 1171 384 0.997 129 584 192 64 194 2.23 51697 chr9 37501752 37501752 T C rs17412622 POLR1E Synonymous SNV T337T 0.032 0.021 0.014 14 38 8 0.036 4 0 1 0 0 10.06 51698 chrX 35966543 35966543 G A rs11798799 CFAP47 Synonymous SNV Q210Q 0.047 0.042 0.054 11 55 16 0.028 16 13 3 5 4 0.005 51699 chrX 35969297 35969297 G A rs2336029 CFAP47 Nonsynonymous SNV V236M 0.132 0.091 0.18 47 155 35 0.121 53 44 9 18 15 24.4 51700 chr9 116940594 116940594 A G rs3810930 COL27A1 Synonymous SNV L644L 0.061 0.047 0.054 25 72 18 0.064 16 1 0 1 0 12.76 51701 chr9 21481556 21481556 T G rs1125488 IFNE Nonsynonymous SNV Q46H 0.05 0.057 0.031 25 59 22 0.064 9 0 0 0 0 1.116 51702 chr9 730054 730054 A G rs12352313 KANK1 Nonsynonymous SNV N743S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.001 51703 chr9 117002538 117002538 C T rs6478073 COL27A1 Synonymous SNV G922G 0.006 0.01 0.007 1 7 4 0.003 2 0 0 0 0 Benign 17.09 51704 chrX 37953620 37953620 C T rs57226394 SYTL5 Nonsynonymous SNV R302C 0.123 0.122 0.122 35 144 47 0.09 36 37 15 13 12 13.46 51705 chr9 79318402 79318402 C G rs41288765 PRUNE2 Synonymous SNV P2709P 0.008 0.018 0.007 2 9 7 0.005 2 0 0 0 0 Benign 11.52 51706 chr9 37733752 37733752 G A rs140800271 FRMPD1 Nonsynonymous SNV R383H 0.008 0.003 0.01 2 9 1 0.005 3 0 0 1 0 34 51707 chr9 37733792 37733792 T C FRMPD1 Synonymous SNV Y396Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.405 51708 chr9 130885323 130885323 C T rs201491985 PTGES2 Synonymous SNV A259A 0.003 0 0 0 4 0 0 0 0 0 0 0 14.29 51709 chr9 740885 740885 T C rs116440714 KANK1 Nonsynonymous SNV I960T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 9.515 51710 chr22 38373998 38373998 G A rs369439585 SOX10 Synonymous SNV P191P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Likely benign 0.045 51711 chr9 130932373 130932373 T G rs45611034 CIZ1 Synonymous SNV R552R 0.047 0.042 0.051 25 55 16 0.064 15 2 0 0 1 Benign 9.843 51712 chr9 27213580 27213580 T C rs3737188 TEK Synonymous SNV Y844Y 0.164 0.195 0.163 60 193 75 0.154 48 17 8 4 4 Benign 0.27 51713 chr14 29261309 29261309 - AAC rs56025822 LINC01551 0 0 0.204 0 0 0 0 60 0 0 10 0 51714 chr9 27220066 27220066 G A rs2273719 TEK Synonymous SNV G893G 0.121 0.146 0.129 41 142 56 0.105 38 9 3 1 1 Benign 11.7 51715 chr9 133948176 133948176 C T rs113259170 LAMC3 Nonsynonymous SNV S1124F 0.017 0.016 0.01 7 20 6 0.018 3 0 1 0 0 Benign 32 51716 chrX 47065186 47065186 G A rs4339766 INE1 0.31 0.313 0.214 131 364 120 0.336 63 122 36 26 39 Benign 2.641 51717 chr9 117267063 117267063 C G rs572671060 WHRN Nonsynonymous SNV G7R 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 51718 chr9 74315589 74315589 C T rs201553900 CEMIP2 Nonsynonymous SNV E1053K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.72 51719 chr22 39034786 39034786 C T rs16999173 FAM227A Nonsynonymous SNV E113K 0.03 0.044 0.02 16 35 17 0.041 6 0 1 0 0 19.07 51720 chrX 48417680 48417680 C A rs781809662 TBC1D25 Synonymous SNV P233P 0 0 0 0 0 0 0 0 0 0 0 0 7.445 51721 chrX 83591866 83591866 C T rs5922966 HDX Synonymous SNV P503P 0.201 0.216 0.156 89 236 83 0.228 46 63 27 16 33 12.35 51722 chr22 39095987 39095987 A G rs2072800 JOSD1 Synonymous SNV S2S 0.031 0.039 0.017 16 36 15 0.041 5 0 1 0 0 8.458 51723 chr22 39122038 39122038 C T rs16999297 GTPBP1 Synonymous SNV N367N 0.031 0.039 0.017 16 36 15 0.041 5 0 1 0 0 14.18 51724 chrX 84520143 84520143 A G rs72549428 ZNF711 Synonymous SNV T266T 0.013 0.01 0.01 7 15 4 0.018 3 3 1 1 2 Benign 1.635 51725 chr22 39125529 39125529 G A rs16999301 GTPBP1 Synonymous SNV S593S 0.031 0.039 0.017 16 36 15 0.041 5 0 1 0 0 13.39 51726 chr14 31637553 31637553 A G rs74649331 HECTD1 Synonymous SNV L525L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.472 51727 chrX 84561270 84561270 G A POF1B Synonymous SNV L412L 0.002 0 0 6 2 0 0.015 0 0 0 0 2 7.443 51728 chr9 32457189 32457189 T C rs10970987 DDX58 Synonymous SNV T903T 0.055 0.065 0.054 18 65 25 0.046 16 3 2 0 0 0.295 51729 chr9 441974 441974 A G DOCK8 Nonsynonymous SNV I1719V 0.013 0.008 0 1 15 3 0.003 0 0 0 0 0 Uncertain significance 27.6 51730 chrX 48823056 48823056 G C rs3027482 KCND1 Nonsynonymous SNV L466V 0.01 0.026 0.007 12 12 10 0.031 2 1 2 0 4 Benign 0.263 51731 chr22 39138332 39138332 G A rs138708 SUN2 Nonsynonymous SNV R369C 0.029 0.039 0.017 16 34 15 0.041 5 0 1 0 0 Benign 30 51732 chr14 31790886 31790886 T G rs28396248 HEATR5A Nonsynonymous SNV N1263T 0.072 0.065 0.088 20 85 25 0.051 26 3 1 2 0 1.955 51733 chr9 79792739 79792739 C T rs376153095 VPS13A-AS1 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 8.355 51734 chr9 117819436 117819436 C T rs17819466 TNC Synonymous SNV T1525T 0.175 0.188 0.139 81 205 72 0.208 41 19 10 4 8 10.65 51735 chr9 79897117 79897117 G A rs11145366 VPS13A Synonymous SNV P1015P 0.088 0.096 0.102 31 103 37 0.079 30 3 2 3 2 Likely benign 9.321 51736 chrX 88008807 88008807 G A rs5984611 CPXCR1 Nonsynonymous SNV R131H 0.375 0.292 0.401 147 440 112 0.377 118 144 32 48 54 18.02 51737 chrX 92927634 92927634 G C rs1045686 NAP1L3 Nonsynonymous SNV P224A 0.647 0.633 0.578 262 760 243 0.672 170 302 96 76 110 0.952 51738 chr9 80040566 80040566 C T rs1801259 GNA14 Synonymous SNV S263S 0.087 0.091 0.105 26 102 35 0.067 31 3 2 3 1 18.18 51739 chr9 33443328 33443328 G T AQP3 Nonsynonymous SNV L122M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.301 51740 chr9 5921844 5921844 G T rs117286418 KIAA2026 Nonsynonymous SNV H1384Q 0.057 0.044 0.054 24 67 17 0.062 16 2 0 0 1 0.064 51741 chrX 99663194 99663194 G T rs41300169 PCDH19 Synonymous SNV I134I 0.054 0.055 0.068 22 63 21 0.056 20 19 8 4 7 Benign 4.339 51742 chrX 52891653 52891653 C T rs73206488 XAGE3 Synonymous SNV Q110Q 0.378 0.396 0.099 150 444 152 0.385 29 0 0 0 0 0.668 51743 chr9 5969268 5969268 T C rs149472002 KIAA2026 Synonymous SNV P321P 0.009 0.003 0.003 2 11 1 0.005 1 1 0 0 0 0.313 51744 chr9 121930416 121930416 C T rs141766717 BRINP1 Nonsynonymous SNV R411Q 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 Likely benign 23.6 51745 chrX 53575169 53575169 C T rs41306894 HUWE1 Synonymous SNV R3367R 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 12.34 51746 chr9 6534753 6534753 G A rs146339375 GLDC Synonymous SNV S958S 0.008 0.003 0.003 0 9 1 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 11.66 51747 chrX 54784768 54784768 C T rs146289175 ITIH6 Nonsynonymous SNV R580H 0.022 0.026 0.01 8 26 10 0.021 3 9 2 1 2 8.173 51748 chrX 55479375 55479375 G A MAGEH1 Nonsynonymous SNV D190N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 51749 chr9 34649559 34649559 C T rs111033818 GALT Stop gain Q244X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 39 51750 chr22 40061919 40061919 G A rs901787176 CACNA1I Nonsynonymous SNV V1303M 0 0.003 0 3 0 1 0.008 0 0 0 0 0 23.9 51751 chr9 34660864 34660864 C T rs11575580 IL11RA Nonsynonymous SNV R395W 0.018 0.021 0.003 14 21 8 0.036 1 0 0 0 0 18.8 51752 chr9 7103751 7103751 C A KDM4C Nonsynonymous SNV R576S 0.003 0 0 0 3 0 0 0 0 0 0 0 34 51753 chr9 135140020 135140020 A G rs151117904 SETX Nonsynonymous SNV I2547T 0.009 0.013 0.014 3 10 5 0.008 4 0 0 0 0 Benign/Likely benign 0.165 51754 chrX 55779877 55779877 T C RRAGB Nonsynonymous SNV M184T 0 0 0 0 0 0 0 0 0 0 0 0 0.755 51755 chr9 71820148 71820148 G A rs4493966 TJP2 Nonsynonymous SNV R24H 0.049 0.016 0.051 8 58 6 0.021 15 2 0 0 0 Benign 11.23 51756 chr14 37641430 37641430 G T rs188235584 SLC25A21-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.581 51757 chr9 90585783 90585783 G A rs780512832 CDK20 Synonymous SNV S136S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.95 51758 chr9 71866026 71866026 G T rs201317427 TJP2 Nonsynonymous SNV A915S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.856 51759 chr9 71866027 71866027 C T rs199767035 TJP2 Nonsynonymous SNV A915V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 11.93 51760 chr9 132630589 132630589 C T rs41279150 USP20 Synonymous SNV F332F 0.017 0.013 0.014 7 20 5 0.018 4 0 0 0 1 13.23 51761 chr14 38092025 38092025 G C rs117711529 TTC6 Nonsynonymous SNV E268D 0.086 0.109 0.092 30 101 42 0.077 27 5 2 2 1 7.296 51762 chr9 94087622 94087622 T G rs7874056 AUH Synonymous SNV I161I 0.101 0.122 0.112 44 119 47 0.113 33 5 1 4 3 Benign/Likely benign 12.78 51763 chr14 38092026 38092026 A T rs140258566 TTC6 Nonsynonymous SNV S269C 0.086 0.109 0.092 30 101 42 0.077 27 5 2 2 1 11.34 51764 chr9 94172975 94172975 C T rs33973463 NFIL3 Synonymous SNV A14A 0.095 0.107 0.071 33 112 41 0.085 21 5 2 1 2 15.44 51765 chr14 38092027 38092027 G C rs117168426 TTC6 Nonsynonymous SNV S269T 0.086 0.109 0.092 30 101 42 0.077 27 5 2 2 1 3.017 51766 chr14 38194107 38194107 A G rs34543736 TTC6 Nonsynonymous SNV Y589C 0.089 0.104 0.085 35 105 40 0.09 25 5 2 2 2 8.851 51767 chr9 124929161 124929161 C T rs7466389 MORN5 Synonymous SNV Y54Y 0.027 0.023 0.041 19 32 9 0.049 12 2 0 1 0 4.65 51768 chr14 38256769 38256769 A G rs12878846 TTC6 Synonymous SNV L1137L 0.033 0.044 0.051 12 39 17 0.031 15 0 0 1 1 0.69 51769 chr9 135458198 135458198 A G rs776516014 BARHL1 Nonsynonymous SNV N5S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.057 51770 chr9 94486622 94486622 G A rs2230577 ROR2 Synonymous SNV P718P 0.072 0.065 0.051 26 84 25 0.067 15 2 0 0 1 Benign 0.449 51771 chr9 124975994 124975994 C G rs11789619 LHX6 Synonymous SNV S99S 0.019 0.031 0.037 21 22 12 0.054 11 0 0 0 1 17.98 51772 chr9 36108061 36108061 T C rs41277085 RECK Synonymous SNV Y555Y 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 0.146 51773 chr14 38273954 38273954 G A rs17768654 TTC6 Nonsynonymous SNV A98T 0.032 0.044 0.054 12 37 17 0.031 16 0 0 1 1 0.879 51774 chr9 95237024 95237024 - TCA rs113747060 ASPN D50_E51insD 0.158 0.122 0.109 72 185 47 0.185 32 42 12 13 14 51775 chr9 95274338 95274338 A G rs2296667 ECM2 Synonymous SNV S353S 0.439 0.372 0.384 174 515 143 0.446 113 113 29 26 48 9.338 51776 chrX 69262201 69262201 G A AWAT2 Nonsynonymous SNV T228M 0 0 0 0 0 0 0 0 0 0 0 0 24.7 51777 chr9 95279985 95279985 C A rs968040 ECM2 Synonymous SNV P155P 0.373 0.305 0.313 154 438 117 0.395 92 86 20 19 40 12.64 51778 chr9 95284873 95284873 A G rs9299405 ECM2 Synonymous SNV S92S 0.377 0.307 0.303 154 443 118 0.395 89 89 21 19 40 7.668 51779 chrX 69354501 69354501 G A rs143163513 IGBP1 Nonsynonymous SNV R106Q 0.004 0.008 0.007 1 5 3 0.003 2 2 1 1 0 Benign/Likely benign 23.6 51780 chr22 42322280 42322280 G A rs529563231 TNFRSF13C Synonymous SNV G64G 0.018 0.031 0.031 8 21 12 0.021 9 2 0 1 1 Benign/Likely benign 12.43 51781 chr22 42322281 42322281 C A rs547352394 TNFRSF13C Nonsynonymous SNV G64V 0.018 0.031 0.031 8 21 12 0.021 9 2 0 1 1 Benign/Likely benign 24.1 51782 chr9 84200529 84200529 T C rs2228172 TLE1 Synonymous SNV A683A 0.086 0.081 0.085 32 101 31 0.082 25 3 2 0 0 8.668 51783 chr9 77397690 77397690 G A rs757650755 TRPM6 Nonsynonymous SNV S995L 0.005 0 0 0 6 0 0 0 0 0 0 0 24.1 51784 chrX 70888572 70888572 G A rs73552734 LOC101059915 Nonsynonymous SNV A307T 0.056 0.049 0 15 66 19 0.038 0 15 5 0 5 10.78 51785 chr9 8497250 8497250 T C rs72694737 PTPRD Nonsynonymous SNV T781A 0.032 0.026 0.024 29 38 10 0.074 7 1 0 1 0 11.66 51786 chr9 37731007 37731007 C T rs2274324 FRMPD1 Synonymous SNV D255D 0.032 0.029 0.044 10 37 11 0.026 13 1 0 0 0 13.15 51787 chr9 8518143 8518143 T C rs7026388 PTPRD Synonymous SNV A406A 0.141 0.154 0.15 54 165 59 0.138 44 12 6 5 4 0.039 51788 chrX 71379881 71379881 G A rs6624600 FLJ44635 Nonsynonymous SNV E68K 0.19 0.188 0.221 84 223 72 0.215 65 60 20 27 26 11.92 51789 chr9 96212813 96212813 C T rs41274386 FAM120AOS Nonsynonymous SNV S29N 0.042 0.044 0.044 19 49 17 0.049 13 2 0 0 0 2.362 51790 chr9 77752510 77752510 C T rs2273769 OSTF1 Synonymous SNV I155I 0.091 0.089 0.085 41 107 34 0.105 25 4 1 0 1 19.07 51791 chr10 102054823 102054823 G A rs147426900 PKD2L1 Nonsynonymous SNV R425C 0.037 0.036 0.041 5 44 14 0.013 12 0 0 0 0 33 51792 chr9 37780831 37780831 A G rs3208406 EXOSC3 Nonsynonymous SNV Y225H 0.078 0.096 0.058 30 92 37 0.077 17 0 2 1 1 Benign 23.9 51793 chr9 86900926 86900926 G A rs7853758 SLC28A3 Synonymous SNV L461L 0.191 0.195 0.15 72 224 75 0.185 44 25 8 3 8 drug response 7.917 51794 chr9 96259883 96259883 - A rs35062269 FAM120A 0.141 0.138 0.122 50 166 53 0.128 36 12 3 1 4 51795 chrX 71417349 71417349 T C rs35470967 PIN4 Synonymous SNV H123H 0.006 0.029 0.027 3 7 11 0.008 8 2 3 3 0 3.983 51796 chrX 71426341 71426341 C T rs45448501 ERCC6L Nonsynonymous SNV S759N 0.051 0.039 0.027 19 60 15 0.049 8 20 3 2 6 0.261 51797 chr9 96714491 96714491 C G rs11793856 BARX1 Synonymous SNV P240P 0.242 0.24 0.276 86 284 92 0.221 81 37 10 10 7 8.738 51798 chrX 76937963 76937963 G C rs3088074 ATRX Nonsynonymous SNV Q891E 0.334 0.289 0.405 142 392 111 0.364 119 130 40 49 49 Benign 0.001 51799 chrX 77268502 77268502 G C rs2227291 ATP7A Nonsynonymous SNV V767L 0.227 0.229 0.265 109 267 88 0.279 78 80 29 27 34 Benign 26.7 51800 chr10 102684536 102684536 T C rs759137846 SLF2 Nonsynonymous SNV L593P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 51801 chr9 92017824 92017824 C T rs13284404 SEMA4D Nonsynonymous SNV A72T 0.024 0.016 0.031 4 28 6 0.01 9 0 0 0 0 28.5 51802 chr10 102738691 102738691 G A rs781655724 SEMA4G Synonymous SNV T243T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.28 51803 chr9 94171922 94171922 G A rs201995681 NFIL3 Synonymous SNV L365L 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 6.17 51804 chrX 100743826 100743826 A G rs5951332 ARMCX4 Nonsynonymous SNV R84G 0.777 0.792 0.704 317 912 304 0.813 207 401 138 93 144 0.001 51805 chr9 79318995 79318995 C T rs11145014 PRUNE2 Nonsynonymous SNV E2512K 0.066 0.083 0.085 25 77 32 0.064 25 2 1 2 0 23.6 51806 chrX 100745825 100745825 T C rs5951333 ARMCX4 Nonsynonymous SNV L750P 0.784 0.792 0.704 317 920 304 0.813 207 406 138 93 144 1.202 51807 chr10 102778895 102778895 G A rs144469613 PDZD7 Synonymous SNV P336P 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 Benign 10.66 51808 chr9 6007767 6007767 C A rs2773341 KIAA2026 Synonymous SNV P7P 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 11.53 51809 chr22 44286950 44286950 G A rs2071883 PNPLA5 Nonsynonymous SNV L140F 0.118 0.12 0.109 40 138 46 0.103 32 2 2 1 0 21.2 51810 chr9 6015011 6015011 T C rs343500 RANBP6 Synonymous SNV T199T 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 0.401 51811 chrX 100749127 100749127 A G rs5951336 ARMCX4 Nonsynonymous SNV I1851V 0.773 0.781 0.69 315 908 300 0.808 203 401 136 92 143 0.001 51812 chr9 136523449 136523449 C T rs45446891 DBH Synonymous SNV N578N 0.031 0.013 0.02 12 36 5 0.031 6 0 1 0 0 Benign 10.18 51813 chrX 100749585 100749585 C T rs3174476 ARMCX4 Synonymous SNV H2003H 0.759 0.732 0.663 308 891 281 0.79 195 387 123 88 138 0.082 51814 chr9 95610530 95610530 G A rs138246830 ZNF484 Nonsynonymous SNV S144L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.05 51815 chrX 101858308 101858308 A G rs35168882 ARMCX5 Synonymous SNV G413G 0.032 0.023 0.044 15 37 9 0.038 13 13 3 4 4 0.013 51816 chr9 125512861 125512861 C A rs150308775 OR1L6 Nonsynonymous SNV H245Q 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 25.6 51817 chr9 96021254 96021254 G A rs55768771 WNK2 Synonymous SNV A808A 0.024 0.016 0.01 8 28 6 0.021 3 0 0 0 0 6.749 51818 chr10 103990413 103990413 T A PITX3 Nonsynonymous SNV Y256F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 51819 chr9 96021876 96021876 G A WNK2 Nonsynonymous SNV A1016T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 5.773 51820 chrX 105152282 105152282 G A rs209373 NRK Nonsynonymous SNV V358M 0.246 0.214 0.259 107 289 82 0.274 76 83 24 30 32 7.733 51821 chr9 135203838 135203838 G A rs3739921 SETX Synonymous SNV H1049H 0.113 0.151 0.095 57 133 58 0.146 28 6 3 3 2 Benign/Likely benign 3.875 51822 chr22 45312306 45312306 C T rs114948338 PHF21B Nonsynonymous SNV A128T 0.012 0.01 0.02 8 14 4 0.021 6 0 0 0 0 0.547 51823 chr10 104353395 104353395 C T rs149513330 SUFU Synonymous SNV I200I 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.92 51824 chrX 107462929 107462929 G A rs139802816 COL4A6 Nonsynonymous SNV P108L 0.006 0.013 0 3 7 5 0.008 0 3 2 0 0 Benign 22.8 51825 chr9 97333824 97333824 C T rs61753274 FBP2 Nonsynonymous SNV A163T 0.013 0.01 0 6 15 4 0.015 0 0 0 0 0 28.6 51826 chrX 107978342 107978342 T A rs80131334 IRS4 Synonymous SNV R411R 0.038 0.049 0.041 20 45 19 0.051 12 12 6 2 6 0.029 51827 chrX 107978343 107978343 C T rs41307415 IRS4 Nonsynonymous SNV R411Q 0.038 0.049 0.041 20 45 19 0.051 12 12 6 2 6 9.808 51828 chrX 100880857 100880857 G A rs3205455 ARMCX3 Synonymous SNV K296K 0.163 0.177 0.139 71 191 68 0.182 41 56 17 12 21 5.989 51829 chrX 107979437 107979437 G A rs73253702 IRS4 Synonymous SNV T46T 0.039 0.049 0.041 20 46 19 0.051 12 12 6 2 6 16.56 51830 chrX 107979475 107979475 G A rs1801162 IRS4 Nonsynonymous SNV L34F 0.038 0.049 0.041 20 45 19 0.051 12 12 6 2 6 17.45 51831 chr9 98231008 98231008 A G rs16909898 LOC100507346 0.057 0.081 0.065 14 67 31 0.036 19 1 1 1 0 Benign 6.002 51832 chr9 135976976 135976976 C T rs78318344 RALGDS Synonymous SNV Q740Q 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 Benign 12.12 51833 chr14 53197247 53197247 G A rs145994294 STYX Nonsynonymous SNV E19K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 51834 chr9 894044 894044 A G rs140506267 DMRT1 Nonsynonymous SNV N66S 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 Likely benign 25.4 51835 chr9 98238379 98238379 A G rs1805155 PTCH1 Synonymous SNV N503N 0.078 0.091 0.085 19 92 35 0.049 25 4 2 1 0 Benign/Likely benign 2.492 51836 chr9 138774738 138774738 C T rs187172909 CAMSAP1 Nonsynonymous SNV R116Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 22.2 51837 chr9 99180258 99180258 - GGC ZNF367 P19_V20insP 0.02 0.01 0.02 5 23 4 0.013 6 1 0 0 0 51838 chrX 110494277 110494277 A G rs17882616 CAPN6 Synonymous SNV N342N 0.066 0.078 0.071 19 78 30 0.049 21 22 7 9 4 0.215 51839 chr9 90321136 90321136 C T rs36220445 DAPK1 Synonymous SNV S1050S 0.023 0.016 0.01 5 27 6 0.013 3 0 0 0 0 12.35 51840 chr9 74319576 74319576 A T rs25696 CEMIP2 Synonymous SNV G980G 0.064 0.039 0.061 17 75 15 0.044 18 5 0 0 0 0.625 51841 chr9 74319677 74319677 T C rs17057133 CEMIP2 Nonsynonymous SNV I947V 0.063 0.039 0.054 17 74 15 0.044 16 5 0 0 0 16.23 51842 chr9 128064686 128064686 A G GAPVD1 Nonsynonymous SNV I204V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.2 51843 chrX 111698613 111698613 T C rs7053563 RTL4 Synonymous SNV H219H 0.243 0.232 0.197 90 285 89 0.231 58 78 30 20 28 0.004 51844 chr10 105344690 105344690 G A rs150625492 NEURL1 Synonymous SNV R349R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.181 51845 chrX 114249053 114249053 A G rs17095919 IL13RA2 Nonsynonymous SNV W111R 0.014 0.005 0 3 17 2 0.008 0 6 0 0 1 0.002 51846 chrX 106396402 106396402 A G rs1298577 NUP62CL Nonsynonymous SNV I177T 0.232 0.258 0.296 91 272 99 0.233 87 78 30 34 30 0.008 51847 chrX 106396455 106396455 A G rs1285590 NUP62CL Synonymous SNV R159R 0.232 0.258 0.296 91 272 99 0.233 87 78 30 34 30 0.007 51848 chr9 75315434 75315436 AGA - rs376040866 TMC1 E83del 0.032 0.018 0.02 9 37 7 0.023 6 0 0 0 0 51849 chr14 55618524 55618524 C G rs35954941 DLGAP5 Nonsynonymous SNV E753Q 0.02 0.026 0.027 4 24 10 0.01 8 0 0 0 0 23.6 51850 chrX 106482177 106482177 A T rs772148210 PIH1D3 Nonsynonymous SNV N152I 0.007 0.008 0 12 8 3 0.031 0 3 1 0 3 3.833 51851 chr22 46657308 46657308 T C rs41302599 PKDREJ Nonsynonymous SNV M638V 0.035 0.055 0.014 19 41 21 0.049 4 0 0 0 0 0.001 51852 chr14 55818275 55818275 A G rs35342573 FBXO34 Synonymous SNV L389L 0.02 0.026 0.027 4 24 10 0.01 8 0 0 0 0 0.002 51853 chrX 107159291 107159291 C A rs12849510 MID2 Nonsynonymous SNV A378D 0.093 0.099 0.095 32 109 38 0.082 28 28 13 10 10 24.4 51854 chr22 46658926 46658926 G A rs142494214 PKDREJ Synonymous SNV S98S 0.007 0.018 0 9 8 7 0.023 0 0 0 0 0 12.2 51855 chr9 139256495 139256495 G T rs3812553 DNLZ Nonsynonymous SNV P169H 0.026 0.031 0.01 12 30 12 0.031 3 0 0 0 0 22.9 51856 chr22 46664412 46664412 C T rs117135869 TTC38 Nonsynonymous SNV A12V 0.035 0.055 0.014 19 41 21 0.049 4 0 0 0 0 26.6 51857 chrX 117700141 117700141 A G rs2286977 DOCK11 Synonymous SNV A289A 0.415 0.419 0.429 157 487 161 0.403 126 158 59 48 58 0.491 51858 chr9 139265088 139265088 C T rs59902911 CARD9 Synonymous SNV T231T 0.029 0.031 0.017 12 34 12 0.031 5 0 0 0 0 Benign/Likely benign 12.27 51859 chr9 139265870 139265870 G A rs11145769 CARD9 Synonymous SNV Y76Y 0.028 0.031 0.017 12 33 12 0.031 5 0 0 0 0 Benign 5.899 51860 chrX 110406205 110406205 G A rs56270341 PAK3 Synonymous SNV E177E 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 7.996 51861 chr9 139270876 139270876 G A rs3812561 SNAPC4 Nonsynonymous SNV P1448S 0.029 0.031 0.017 12 34 12 0.031 5 0 0 0 0 0.016 51862 chrX 119760629 119760629 A T rs17261572 C1GALT1C1 Nonsynonymous SNV D131E 0.197 0.208 0.184 68 231 80 0.174 54 65 25 17 25 Pathogenic 0.137 51863 chr9 139273288 139273288 C T rs3829112 SNAPC4 Synonymous SNV E997E 0.118 0.112 0.133 58 139 43 0.149 39 8 2 2 2 8.983 51864 chr22 47054148 47054148 C T rs145906275 GRAMD4 Synonymous SNV R142R 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 19.61 51865 chrX 123467615 123467615 T C rs5911810 TEX13D Nonsynonymous SNV L283P 0.479 0.492 0 163 562 189 0.418 0 193 70 0 62 0.059 51866 chrX 123526031 123526031 T C rs2076165 TENM1 Synonymous SNV S1846S 0.101 0.154 0.065 45 118 59 0.115 19 32 19 6 12 4.66 51867 chr22 47085924 47085924 G A rs35318967 CERK Synonymous SNV D502D 0.058 0.06 0.034 37 68 23 0.095 10 2 2 0 2 9.932 51868 chr9 136507444 136507444 A G rs45465204 DBH Nonsynonymous SNV N201S 0.025 0.021 0.027 11 29 8 0.028 8 0 0 0 0 Likely benign 0.027 51869 chr10 105820028 105820028 T C rs142852551 COL17A1 Synonymous SNV T330T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.192 51870 chrX 114879399 114879399 T C rs2108099 PLS3 Synonymous SNV P414P 0.036 0.034 0.014 14 42 13 0.036 4 8 3 0 5 Benign 4.596 51871 chr9 139301960 139301960 G A rs3812580 ENTR1 Synonymous SNV T79T 0.029 0.031 0.007 12 34 12 0.031 2 0 0 0 0 5.419 51872 chrX 114880423 114880423 T C rs871774 PLS3 Synonymous SNV L432L 0.036 0.034 0.014 14 42 13 0.036 4 8 3 0 5 Benign 4.348 51873 chr22 49042476 49042476 G A rs35316568 TAFA5 Synonymous SNV T60T 0.023 0.034 0.017 16 27 13 0.041 5 0 0 0 0 Benign 14.03 51874 chrX 115945154 115945154 C T rs6655485 LOC100126447 0.284 0.227 0 109 334 87 0.279 0 104 29 0 37 1.434 51875 chrX 125954964 125954964 C G rs12835991 PRR32 Nonsynonymous SNV L115V 0.072 0.083 0.105 28 85 32 0.072 31 21 10 10 8 9.011 51876 chr9 97055327 97055327 G A rs35177967 ZNF169 Nonsynonymous SNV E78K 0.089 0.096 0.133 27 104 37 0.069 39 6 2 3 0 0.324 51877 chr9 139571430 139571430 G A rs142993240 AGPAT2 Nonsynonymous SNV R159C 0.033 0.044 0.017 8 39 17 0.021 5 0 0 0 1 Benign 25.5 51878 chr14 59939719 59939719 A T rs748305023 L3HYPDH Nonsynonymous SNV D172E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 51879 chr9 97063628 97063628 G C rs12350212 ZNF169 Nonsynonymous SNV Q405H 0.093 0.089 0.099 28 109 34 0.072 29 4 2 3 1 0.359 51880 chr9 97221463 97221463 G A rs7863750 MFSD14B Synonymous SNV P430P 0.1 0.099 0.099 30 117 38 0.077 29 4 2 3 1 7.438 51881 chr9 130630749 130630749 C G rs8192462 AK1 Nonsynonymous SNV E139Q 0.033 0.034 0.024 16 39 13 0.041 7 0 0 0 0 Benign 22.3 51882 chr14 60027862 60027862 C G rs180781165 CCDC175 Nonsynonymous SNV D310H 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 0.038 51883 chrX 114426193 114426193 G A rs186877600 RBMXL3 Nonsynonymous SNV R730Q 0.07 0.078 0.058 38 82 30 0.097 17 24 8 5 10 12.76 51884 chrX 133963268 133963268 C T rs45447592 FAM122C Nonsynonymous SNV P68S 0.057 0.047 0.044 18 67 18 0.046 13 19 3 3 6 0.002 51885 chrX 134707971 134707971 T C rs782808043 INTS6L Synonymous SNV I538I 0.006 0.005 0.003 3 7 2 0.008 1 2 0 0 1 5.108 51886 chrX 11780303 11780303 A G rs777091019 MSL3 Nonsynonymous SNV I25V 0.007 0.018 0 1 8 7 0.003 0 2 3 0 0 11.65 51887 chr9 99580835 99580835 C T rs146368566 ZNF782 Nonsynonymous SNV M466I 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 15.26 51888 chrX 124454311 124454311 C T rs145576211 TEX13C Nonsynonymous SNV R115C 0 0 0 1 0 0 0.003 0 0 0 0 0 2.599 51889 chrX 124456452 124456452 C T rs28657589 TEX13C Synonymous SNV P828P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.811 51890 chr9 99581568 99581568 T C rs34763627 ZNF782 Nonsynonymous SNV N222S 0.117 0.096 0.099 50 137 37 0.128 29 3 3 1 3 0.005 51891 chr9 138516119 138516119 G A rs17040344 GLT6D1 Nonsynonymous SNV P219S 0.083 0.078 0.078 31 97 30 0.079 23 5 0 1 3 15.03 51892 chrX 124456694 124456694 T C rs3135238 TEX13C Nonsynonymous SNV V909A 0.129 0.099 0.136 33 152 38 0.085 40 41 9 15 9 0.54 51893 chrX 125954753 125954753 C T rs41309538 PRR32 Synonymous SNV D44D 0.074 0.086 0.119 26 87 33 0.067 35 21 9 12 8 10.28 51894 chrX 100486744 100486744 C T rs774659178 DRP2 Synonymous SNV P36P 0.007 0.005 0 1 8 2 0.003 0 2 1 0 0 13.53 51895 chr10 115357829 115357829 G A rs777292364 NRAP Nonsynonymous SNV R1375C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 51896 chr9 139751879 139751879 G A rs200778498 MAMDC4 Nonsynonymous SNV V723M 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 11.32 51897 chrX 130412680 130412680 T G rs146462069 IGSF1 Nonsynonymous SNV N590T 0.023 0.013 0.003 6 27 5 0.015 1 8 1 0 2 Benign 19.23 51898 chr9 139836657 139836657 G A rs201344198 FBXW5 Nonsynonymous SNV R313W 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 11.21 51899 chr14 62213929 62213929 - T rs397897404 HIF1A-AS2 0 0 0.463 0 0 0 0 136 0 0 56 0 51900 chrX 10085227 10085227 T C rs7058143 WWC3 Synonymous SNV R376R 0.049 0.052 0.027 11 57 20 0.028 8 13 5 3 3 0.007 51901 chr9 138713750 138713750 C T rs762762617 CAMSAP1 Synonymous SNV V919V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.781 51902 chr9 85613354 85613354 A G rs34303676 RASEF Synonymous SNV D577D 0.04 0.039 0.034 24 47 15 0.062 10 0 0 0 1 7.41 51903 chr9 138847255 138847255 G A rs142001879 UBAC1 Nonsynonymous SNV H49Y 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Benign 16.03 51904 chrX 131212512 131212512 A G rs5977623 FRMD7 Synonymous SNV I496I 0.368 0.305 0.296 141 432 117 0.362 87 145 36 32 49 Benign 0.015 51905 chrX 131212944 131212944 A G rs7051368 FRMD7 Synonymous SNV N352N 0.109 0.083 0.105 36 128 32 0.092 31 36 7 11 11 Benign 0.006 51906 chrX 10180554 10180554 G A rs34148950 CLCN4 Synonymous SNV A385A 0.057 0.049 0.014 15 67 19 0.038 4 15 4 1 6 14.51 51907 chrX 132161159 132161159 G A rs35397110 USP26 Nonsynonymous SNV L364F 0.055 0.055 0.058 28 65 21 0.072 17 18 6 6 7 7.862 51908 chrX 101909785 101909785 C G rs17339512 GPRASP1 Nonsynonymous SNV A315G 0.129 0.115 0.054 28 152 44 0.072 16 33 11 5 7 4.51 51909 chrX 134427785 134427785 T C rs376249449 ZNF75D Synonymous SNV L94L 0.002 0 0 0 2 0 0 0 1 0 0 0 1.585 51910 chrX 140993842 140993842 - CTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT MAGEC1 S240_S241insFSSTLLSLFQSFSERTQSTFEGFAQSPLQIPVSPS 0.015 0.018 0.003 7 18 7 0.018 1 8 3 0 3 51911 chr9 87325623 87325623 C A rs76950094 NTRK2 Nonsynonymous SNV S11Y 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 22.1 51912 chr9 139944736 139944736 C G rs4880083 ENTPD2 Synonymous SNV V343V 0.025 0.034 0.014 11 29 13 0.028 4 6 2 1 2 Benign 0.463 51913 chrX 131188749 131188749 C T rs56044451 STK26 Nonsynonymous SNV R45C 0.014 0.026 0.007 13 17 10 0.033 2 4 3 1 4 Benign 35 51914 chr9 13190292 13190292 C T rs77838108 MPDZ Nonsynonymous SNV V659I 0.019 0.021 0 6 22 8 0.015 0 0 0 0 0 Likely benign 11.47 51915 chrX 10437792 10437792 G A rs16986145 MID1 Synonymous SNV S410S 0.038 0.029 0.003 8 45 11 0.021 1 8 1 0 2 Benign 15.05 51916 chr10 115973809 115973809 A G rs141875070 TDRD1 Synonymous SNV V716V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 7.647 51917 chrX 10474513 10474513 C T rs7065297 MID1 Nonsynonymous SNV V219I 0.041 0.026 0.003 10 48 10 0.026 1 9 1 0 3 1.223 51918 chr9 139401818 139401818 G A rs746547529 NOTCH1 Synonymous SNV N1194N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 9.301 51919 chr14 64625344 64625344 T C rs142660236 SYNE2 Nonsynonymous SNV V5265A 0.028 0.026 0.034 10 33 10 0.026 10 0 0 0 0 Benign 23.9 51920 chr9 90501980 90501980 G A rs145699645 SPATA31E1 Nonsynonymous SNV V860I 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 0.544 51921 chrX 135474417 135474417 C T rs144800387 ADGRG4 Synonymous SNV T2646T 0.001 0.008 0 0 1 3 0 0 0 1 0 0 11.29 51922 chr9 139612080 139612080 G A rs752961190 DIPK1B Nonsynonymous SNV V39I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 51923 chrX 151129822 151129822 G A rs2256882 GABRE Synonymous SNV A193A 0.11 0.086 0.082 31 129 33 0.079 24 32 7 7 8 14.82 51924 chrX 13635937 13635937 C T rs5978653 EGFL6 Synonymous SNV S289S 0.057 0.07 0.061 33 67 27 0.085 18 18 7 6 11 14.03 51925 chr9 91606522 91606522 T A rs11795137 C9orf47 Synonymous SNV S128S 0.069 0.07 0.075 31 81 27 0.079 22 2 2 1 2 3.535 51926 chrX 107315933 107315933 G A rs17254305 VSIG1 Nonsynonymous SNV V147I 0.026 0.031 0.041 11 30 12 0.028 12 6 3 6 3 7.595 51927 chrX 135593629 135593629 C T rs3027849 HTATSF1 Synonymous SNV D575D 0.159 0.133 0.092 79 187 51 0.203 27 49 12 7 25 11.28 51928 chr9 140008769 140008769 C G rs199586193 DPP7 Nonsynonymous SNV A83P 0.015 0.013 0 2 18 5 0.005 0 0 0 0 0 8.357 51929 chr22 50725553 50725553 T C rs28513473 PLXNB2 Synonymous SNV T583T 0.059 0.052 0.088 34 69 20 0.087 26 0 2 2 0 0.053 51930 chrX 107977775 107977775 G T rs141325963 IRS4 Synonymous SNV S600S 0.012 0.01 0.014 1 14 4 0.003 4 3 1 2 0 0.002 51931 chrX 108708552 108708552 A G rs12008095 GUCY2F Nonsynonymous SNV L284P 0.243 0.276 0.316 110 285 106 0.282 93 86 33 34 38 27.5 51932 chr9 95068046 95068046 C T rs1133908 NOL8 Synonymous SNV K926K 0.429 0.359 0.364 170 504 138 0.436 107 109 27 24 44 12.92 51933 chrX 152584765 152584765 C T rs66739507 PNMA6F Synonymous SNV P456P 0.043 0.031 0 22 50 12 0.056 0 14 3 0 7 3.075 51934 chr9 95237027 95237027 - TCA ASPN 0.109 0.099 0 36 128 38 0.092 0 0 0 0 0 51935 chrX 152735959 152735959 C T rs2032436 HAUS7 Synonymous SNV E29E 0.245 0.266 0.207 102 288 102 0.262 61 87 31 20 34 12.01 51936 chrX 110963338 110963338 T C rs5985637 ALG13 Synonymous SNV G422G 0.028 0.029 0.024 14 33 11 0.036 7 9 3 3 4 Benign 6.61 51937 chrX 140994032 140994136 TGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTAT - MAGEC1 Q292_T326del 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 51938 chr14 65270391 65270391 G A rs11623956 SPTB Synonymous SNV H136H 0.055 0.073 0.085 27 65 28 0.069 25 0 1 1 0 Benign/Likely benign 7.544 51939 chrX 140994037 140994037 C A rs176045 MAGEC1 Nonsynonymous SNV L283I 0.083 0.073 0.071 35 98 28 0.09 21 40 11 9 13 0.016 51940 chr9 95405048 95405048 A C rs35248147 IPPK Synonymous SNV L183L 0.039 0.029 0.044 13 46 11 0.033 13 1 0 1 0 0.45 51941 chrX 140993852 140993852 C G rs176038 MAGEC1 Nonsynonymous SNV T221S 0.055 0.044 0.014 21 64 17 0.054 4 4 1 1 0 0.002 51942 chrX 112022618 112022644 CTGGAGCAGCAGCAGCAGCAACAGCAA - rs759763058 AMOT V913_P921del 0.016 0.034 0.027 9 19 13 0.023 8 5 2 2 2 51943 chr9 139749554 139749554 C T rs61745456 MAMDC4 Nonsynonymous SNV P397S 0.004 0.003 0.017 6 5 1 0.015 5 0 0 0 0 22.9 51944 chr14 67769177 67769177 A C rs10146663 MPP5 Synonymous SNV V250V 0.054 0.052 0.065 25 63 20 0.064 19 2 0 1 2 3.508 51945 chrX 140993859 140993859 T A rs6634333 MAGEC1 Nonsynonymous SNV S223R 0.055 0.039 0.014 21 64 15 0.054 4 4 0 1 0 10.74 51946 chrX 114424148 114424148 G A rs62601525 RBMXL3 Synonymous SNV S48S 0.14 0.161 0.167 49 164 62 0.126 49 42 17 17 14 6.865 51947 chrX 140993864 140993864 T C rs34836042 MAGEC1 Nonsynonymous SNV F225S 0.055 0.039 0.014 21 64 15 0.054 4 4 0 1 0 0.006 51948 chrX 114424438 114424438 C G rs62601527 RBMXL3 Nonsynonymous SNV P145R 0.14 0.161 0.167 49 164 62 0.126 49 42 17 17 14 9.716 51949 chrX 153176254 153176254 A G rs2070097 ARHGAP4 Synonymous SNV H572H 0.411 0.404 0.344 125 483 155 0.321 101 168 55 38 43 Benign 0.005 51950 chrX 140993876 140994085 CCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC - MAGEC1 P239_S308del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 51951 chrX 114424505 114424505 G A rs62601528 RBMXL3 Synonymous SNV P167P 0.139 0.161 0.167 49 163 62 0.126 49 42 17 17 14 0.082 51952 chrX 140993877 140993877 C A rs176039 MAGEC1 Synonymous SNV A229A 0.051 0.039 0.014 21 60 15 0.054 4 1 0 1 0 10.06 51953 chrX 140993905 140993905 C T rs176040 MAGEC1 Nonsynonymous SNV P239S 0.063 0.049 0.031 27 74 19 0.069 9 14 1 3 8 0.008 51954 chrX 114424941 114424941 G A rs62601530 RBMXL3 Nonsynonymous SNV A313T 0.139 0.161 0.167 49 163 62 0.126 49 42 17 17 14 22.2 51955 chrX 149638920 149638920 C T rs41313406 MAMLD1 Nonsynonymous SNV P334S 0.131 0.115 0.092 59 154 44 0.151 27 44 12 10 17 7.744 51956 chrX 140993913 140993913 C G rs176041 MAGEC1 Synonymous SNV S241S 0.055 0.039 0.014 21 64 15 0.054 4 10 0 1 2 6.162 51957 chrX 149642019 149642019 A G rs2073043 MAMLD1 Nonsynonymous SNV N637S 0.158 0.125 0.112 70 185 48 0.179 33 52 14 12 20 6.828 51958 chrX 114425238 114425238 G A rs55718100 RBMXL3 Nonsynonymous SNV G412S 0.14 0.161 0.167 49 164 62 0.126 49 42 17 17 14 10.82 51959 chrX 140993945 140993945 T C rs145765891 MAGEC1 Nonsynonymous SNV F252S 0.052 0.042 0.027 20 61 16 0.051 8 17 2 3 8 0.009 51960 chrX 140993947 140993947 T C rs148942485 MAGEC1 Nonsynonymous SNV S253P 0.049 0.034 0.027 18 58 13 0.046 8 16 1 3 7 0.001 51961 chrX 114425923 114425923 C A rs142223554 RBMXL3 Nonsynonymous SNV A640D 0.139 0.161 0.167 49 163 62 0.126 49 42 17 17 14 16.33 51962 chrX 153420112 153420112 C T rs138979991 OPN1LW Synonymous SNV P214P 0.002 0.01 0 0 2 4 0 0 1 2 0 0 14.03 51963 chrX 150349533 150349533 G A rs62620754 GPR50 Nonsynonymous SNV S493N 0.124 0.161 0.109 47 145 62 0.121 32 36 21 8 16 22.4 51964 chr10 119774598 119774598 T A rs58533443 RAB11FIP2 Nonsynonymous SNV N430I 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 15.55 51965 chr9 96407953 96407953 G A rs35505758 PHF2 Synonymous SNV T114T 0.026 0.013 0.014 7 30 5 0.018 4 0 0 0 0 11.88 51966 chrX 114426385 114426385 G A rs80194951 RBMXL3 Nonsynonymous SNV R794H 0.139 0.161 0.167 49 163 62 0.126 49 42 17 17 14 24.2 51967 chr10 11997468 11997468 A G rs750732689 UPF2 Synonymous SNV S871S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.302 51968 chr9 139904722 139904722 C G ABCA2 Synonymous SNV A2092A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 51969 chr9 96411414 96411414 G A rs16912641 PHF2 Synonymous SNV L174L 0.026 0.013 0.017 6 30 5 0.015 5 0 0 0 0 11.11 51970 chr9 96422788 96422788 C T rs73523907 PHF2 Synonymous SNV L548L 0.026 0.013 0.014 7 30 5 0.018 4 0 0 0 0 15.88 51971 chrX 150565330 150565330 G C rs176451 VMA21 Nonsynonymous SNV G7R 0.554 0.516 0.524 205 650 198 0.526 154 252 77 64 77 3.322 51972 chrX 150791503 150791503 A G rs5924977 PASD1 Synonymous SNV G171G 0.159 0.224 0.139 54 187 86 0.138 41 49 28 14 14 0.095 51973 chr14 70234306 70234306 C T rs34496118 LOC100289511 0 0 0.19 0 0 0 0 56 0 0 7 0 3.592 51974 chrX 150791512 150791512 C T rs5924978 PASD1 Synonymous SNV C174C 0.145 0.206 0.146 47 170 79 0.121 43 44 25 14 12 0.964 51975 chrX 118112336 118112336 T C rs41300317 LONRF3 Synonymous SNV N282N 0.018 0.003 0.014 9 21 1 0.023 4 6 0 1 2 1.844 51976 chrX 2773183 2773183 C T rs145067198 GYG2 Synonymous SNV H3H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 10.41 51977 chrX 150911107 150911107 G A rs12013494 CNGA2 Synonymous SNV L194L 0.123 0.164 0.095 50 144 63 0.128 28 42 20 10 16 3.373 51978 chr9 134350957 134350957 C G rs200966997 PRRC2B Synonymous SNV R1147R 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 7.625 51979 chrX 2832668 2832668 A G rs139484145 ARSD X383Q 0.204 0.211 0.007 97 240 81 0.249 2 0 0 0 0 0.673 51980 chr9 140056456 140056456 G A rs75783429 GRIN1 Synonymous SNV P516P 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign 9.782 51981 chrX 2832696 2832696 T C rs113031742 ARSD Synonymous SNV P373P 0.211 0.224 0.007 101 248 86 0.259 2 0 0 0 0 2.196 51982 chr9 98997810 98997810 C T rs2066479 HSD17B3 Nonsynonymous SNV G289S 0.076 0.078 0.075 21 89 30 0.054 22 4 3 0 1 Benign/Likely benign 0.552 51983 chr10 121571297 121571297 A G rs373644016 INPP5F Synonymous SNV E572E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.131 51984 chrX 20134902 20134902 C G rs142065916 MAP7D2 Synonymous SNV A32A 0.031 0.005 0.031 9 36 2 0.023 9 9 0 3 2 11.33 51985 chrX 2832708 2832708 G T rs112408163 ARSD Synonymous SNV P369P 0.212 0.224 0.007 101 249 86 0.259 2 0 0 0 0 1.062 51986 chrX 2832715 2832715 T C rs73632953 ARSD Nonsynonymous SNV K367R 0.212 0.224 0.007 101 249 86 0.259 2 0 0 0 0 0.387 51987 chr14 73581011 73581011 A G rs362414 RBM25 Synonymous SNV S803S 0.058 0.055 0.126 20 68 21 0.051 37 11 5 3 2 7.642 51988 chrX 20204461 20204461 G T rs2230488 RPS6KA3 Synonymous SNV L266L 0.159 0.156 0.102 75 187 60 0.192 30 56 15 9 27 Benign 9.421 51989 chr10 12162221 12162221 G A rs139445220 DHTKD1 Synonymous SNV P871P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.11 51990 chrX 123775824 123775824 T C rs16999334 TENM1 Nonsynonymous SNV M632V 0.003 0 0.003 0 4 0 0 1 1 0 0 0 12.16 51991 chr9 15695278 15695278 G A rs139248677 CCDC171 Nonsynonymous SNV V421M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.37 51992 chr14 73720581 73720581 A T rs775749286 PAPLN Nonsynonymous SNV E405V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.86 51993 chrX 2832771 2832771 C T rs78142040 ARSD Synonymous SNV A348A 0.21 0.221 0.007 101 247 85 0.259 2 0 0 0 0 1.325 51994 chrX 123805589 123805589 A G rs2213591 TENM1 Nonsynonymous SNV M371T 0.014 0.016 0.024 2 17 6 0.005 7 2 1 3 0 4.473 51995 chrX 2832787 2832787 A G rs73632954 ARSD Nonsynonymous SNV V343A 0.21 0.219 0.007 101 247 84 0.259 2 0 0 0 0 3.115 51996 chr14 73731294 73731295 AG - rs564215769 PAPLN 0.001 0 0.003 0 1 0 0 1 0 0 0 0 51997 chrX 2833605 2833605 C T rs111939179 ARSD Stop gain W331X 0.209 0.203 0.007 99 245 78 0.254 2 0 0 0 0 36 51998 chrX 2833628 2833628 A C rs373216270 ARSD Synonymous SNV G323G 0.211 0.208 0.007 101 248 80 0.259 2 0 0 0 0 Likely benign 0.002 51999 chrX 2833631 2833631 A G rs377542415 ARSD Synonymous SNV Y322Y 0.212 0.208 0.007 100 249 80 0.256 2 0 0 0 0 Likely benign 0.01 52000 chrX 2833638 2833638 C T rs370769167 ARSD Nonsynonymous SNV G320D 0.212 0.211 0.007 100 249 81 0.256 2 0 0 0 0 24.4 52001 chrX 2833643 2833643 C A rs115332247 ARSD Nonsynonymous SNV Q318H 0.21 0.211 0.007 100 246 81 0.256 2 0 0 0 0 0.056 52002 chrX 152663150 152663150 G A rs187538574 PNMA6E Synonymous SNV S386S 0.044 0.049 0 22 52 19 0.056 0 12 5 0 6 0.114 52003 chr9 18622274 18622274 G A rs146511703 ADAMTSL1 Nonsynonymous SNV V170I 0.004 0.008 0 6 5 3 0.015 0 0 0 0 0 21.9 52004 chr14 74086415 74086415 G A rs17782052 ACOT6 Nonsynonymous SNV E166K 0.072 0.07 0.034 28 85 27 0.072 10 0 2 0 3 0.003 52005 chrX 2835863 2835863 G T rs78034736 ARSD Nonsynonymous SNV A282D 0.21 0.216 0.007 101 247 83 0.259 2 0 0 0 0 25.6 52006 chrX 152686781 152686781 G A rs781922208 ZFP92 Nonsynonymous SNV G316S 0 0 0 0 0 0 0 0 0 0 0 0 19.48 52007 chr9 18775807 18775807 G A rs751667336 ADAMTSL1 Nonsynonymous SNV G822S 0 0.005 0 0 0 2 0 0 0 0 0 0 26.2 52008 chrX 2835964 2835964 G A rs73632972 ARSD Synonymous SNV F248F 0.212 0.224 0.007 101 249 86 0.259 2 0 0 0 0 8.021 52009 chrX 2835985 2835985 G A rs748243474 ARSD Synonymous SNV F241F 0.212 0.224 0.007 101 249 86 0.259 2 0 0 0 0 6.217 52010 chr10 123659458 123659458 G C ATE1 Nonsynonymous SNV L174V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.76 52011 chrX 129148812 129148812 C T rs35645526 BCORL1 Synonymous SNV V688V 0.005 0.008 0.007 0 6 3 0 2 2 1 1 0 Benign 0.097 52012 chrX 2835989 2835989 A C rs143238998 ARSD Nonsynonymous SNV F240C 0.212 0.224 0.007 101 249 86 0.259 2 0 0 0 0 4.109 52013 chr10 123670505 123670505 G A rs148095496 ATE1 Nonsynonymous SNV L71F 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 2.688 52014 chrX 2835993 2835993 G A rs755296450 ARSD Synonymous SNV L239L 0.212 0.221 0.007 101 249 85 0.259 2 0 0 0 0 2.805 52015 chrX 2835995 2835995 C A rs150899882 ARSD Nonsynonymous SNV C238F 0.212 0.221 0.007 101 249 85 0.259 2 0 0 0 0 0.015 52016 chrX 2835999 2836007 CCACGCCGG - rs113556864 ARSD A234_V236del 0.212 0.221 0.007 101 249 85 0.259 2 0 0 0 0 52017 chr9 140328793 140328793 A G rs138695705 NOXA1 Nonsynonymous SNV Q422R 0.01 0.008 0.007 8 12 3 0.021 2 0 0 0 1 0.004 52018 chr14 74409084 74409084 G A rs778992673 FAM161B Synonymous SNV T420T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.123 52019 chrX 2836041 2836041 A T rs67272620 ARSD Nonsynonymous SNV F223I 0.212 0.216 0.007 100 249 83 0.256 2 0 0 0 0 0.004 52020 chrX 2836047 2836047 C T rs67359049 ARSD Nonsynonymous SNV G221S 0.212 0.214 0.007 101 249 82 0.259 2 0 0 0 0 11.63 52021 chrX 153070999 153070999 G A rs3747312 PDZD4 Synonymous SNV N95N 0.089 0.081 0.041 28 105 31 0.072 12 30 8 3 7 9.651 52022 chrX 153135929 153135929 C T rs35151382 L1CAM Synonymous SNV P235P 0.016 0.005 0 3 19 2 0.008 0 6 0 0 0 Benign 13.96 52023 chrX 2836060 2836060 G A rs113318393 ARSD Synonymous SNV A216A 0.211 0.211 0.007 100 248 81 0.256 2 0 0 0 0 9.069 52024 chrX 104992963 104992963 T C rs3764765 IL1RAPL2 Synonymous SNV Y353Y 0.11 0.094 0.156 48 129 36 0.123 46 33 8 18 13 0.036 52025 chrX 2836084 2836084 C G rs73632973 ARSD Synonymous SNV A208A 0.208 0.203 0.007 100 244 78 0.256 2 0 0 0 0 9.925 52026 chrX 153179028 153179028 C T rs782547689 ARHGAP4 Synonymous SNV L387L 0.021 0.016 0 4 25 6 0.01 0 7 2 0 0 11.44 52027 chrX 2836138 2836138 G A rs73632974 ARSD Synonymous SNV P190P 0.208 0.214 0.007 100 244 82 0.256 2 0 0 0 0 9.451 52028 chrX 2836181 2836181 A T rs73632975 ARSD Nonsynonymous SNV M176K 0.209 0.219 0.007 101 245 84 0.259 2 0 0 0 0 20.3 52029 chr9 140705999 140705999 C T rs573774002 EHMT1 Synonymous SNV H926H 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Likely benign 17.85 52030 chrX 153218365 153218365 C A rs3027878 HCFC1 Synonymous SNV L1514L 0.255 0.206 0.201 85 299 79 0.218 59 82 23 20 26 Benign 9.105 52031 chr9 20948311 20948311 A G rs35470485 FOCAD Synonymous SNV G1239G 0.04 0.044 0.071 16 47 17 0.041 21 0 0 1 2 8.958 52032 chrX 153219665 153219665 C T rs2071133 HCFC1 Synonymous SNV A1395A 0.264 0.221 0.204 90 310 85 0.231 60 86 25 22 27 Benign 7.963 52033 chrX 2836184 2836184 C T rs73632976 ARSD Nonsynonymous SNV G175D 0.209 0.216 0.007 101 245 83 0.259 2 0 0 0 0 27.2 52034 chrX 153220360 153220360 A G rs1051152 HCFC1 Nonsynonymous SNV S1164P 0.276 0.232 0.207 94 324 89 0.241 61 91 26 22 29 Benign 0.023 52035 chrX 2836211 2836211 A T rs73632977 ARSD Nonsynonymous SNV L166Q 0.209 0.208 0.007 100 245 80 0.256 2 0 0 0 0 17.46 52036 chrX 153221657 153221657 T C rs730106 HCFC1 Synonymous SNV P947P 0.278 0.234 0.221 94 326 90 0.241 65 91 26 23 29 Benign 0.004 52037 chr14 75230837 75230837 A G rs12885527 YLPM1 Synonymous SNV Q215Q 0.037 0.055 0.058 7 44 21 0.018 17 1 1 0 0 0.243 52038 chrX 2836238 2836238 G A rs73632978 ARSD Nonsynonymous SNV S157F 0.204 0.211 0.007 99 239 81 0.254 2 0 0 0 0 2.104 52039 chrX 153222835 153222835 G C rs2071134 HCFC1 Synonymous SNV T761T 0.255 0.214 0.146 85 299 82 0.218 43 82 24 14 26 Benign 3.979 52040 chrX 153247722 153247722 C T rs2266890 TMEM187 Nonsynonymous SNV S70L 0.265 0.219 0.218 90 311 84 0.231 64 87 25 22 27 8.271 52041 chr9 140952690 140952690 G A rs2229950 CACNA1B Synonymous SNV L1432L 0.024 0.013 0.02 5 28 5 0.013 6 0 0 1 0 1.334 52042 chrX 131212642 131212642 C T rs6637934 FRMD7 Nonsynonymous SNV R453H 0.075 0.049 0.041 16 88 19 0.041 12 20 5 4 4 Benign 24 52043 chr9 21816758 21816758 G A rs7023954 MTAP Nonsynonymous SNV V56I 0.285 0.281 0.218 114 335 108 0.292 64 47 16 13 17 Benign 23.4 52044 chrX 2867704 2867704 A G rs35274634 ARSL Synonymous SNV H111H 0.004 0.003 0.007 5 5 1 0.013 2 0 0 1 2 Benign 0.039 52045 chrX 153247745 153247745 A G rs7350355 TMEM187 Nonsynonymous SNV M78V 0.279 0.229 0.224 93 327 88 0.238 66 92 26 23 28 0.005 52046 chrX 131216454 131216454 G A rs5977625 FRMD7 Nonsynonymous SNV S266L 0.063 0.073 0.061 43 74 28 0.11 18 20 6 7 13 Benign 25.2 52047 chrX 153247954 153247954 C T rs6571303 TMEM187 Synonymous SNV C147C 0.266 0.221 0.214 90 312 85 0.231 63 87 25 22 27 8.841 52048 chrX 153248248 153248248 G A rs13397 TMEM187 Synonymous SNV T245T 0.246 0.208 0.194 79 289 80 0.203 57 76 24 19 24 8.678 52049 chrX 132351703 132351703 C A rs35745873 TFDP3 Nonsynonymous SNV Q195H 0.051 0.083 0.051 16 60 32 0.041 15 12 9 7 3 18.24 52050 chrX 132352230 132352230 C G rs28455963 TFDP3 Nonsynonymous SNV E20Q 0.06 0.089 0.065 19 70 34 0.049 19 14 9 9 4 0.007 52051 chr10 124358498 124358498 T G rs144489236 DMBT1 Nonsynonymous SNV I556M 0.009 0.018 0.007 2 11 7 0.005 2 0 0 0 0 12.46 52052 chr9 2622134 2622134 C T rs34881325 VLDLR-AS1 0.281 0.302 0.255 93 330 116 0.238 75 82 32 17 20 Benign 16.47 52053 chrX 153296244 153296244 T C rs61752362 MECP2 Synonymous SNV K357K 0.023 0.016 0 4 27 6 0.01 0 7 2 0 0 Benign 0.006 52054 chr9 14775917 14775917 T A rs2101770 FREM1 Nonsynonymous SNV N112I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 2.54 52055 chrX 12906030 12906030 G A rs864058 TLR7 Synonymous SNV T801T 0.095 0.112 0.156 60 112 43 0.154 46 31 13 16 18 7.111 52056 chrX 153418514 153418514 G A rs5986963 OPN1LW Nonsynonymous SNV V171M 0.086 0.065 0.071 18 101 25 0.046 21 31 6 7 5 0.001 52057 chrX 132887665 132887665 A G rs61754633 GPC3 Synonymous SNV I238I 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 2.967 52058 chrX 153418516 153418516 G T rs5986964 OPN1LW Synonymous SNV V171V 0.088 0.065 0.071 18 103 25 0.046 21 32 6 7 5 0.082 52059 chr10 124595830 124595830 A G rs36212072 CUZD1 Nonsynonymous SNV I285T 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 22.9 52060 chrX 2867651 2867651 C T rs34412194 ARSL Nonsynonymous SNV R129H 0.005 0 0 4 6 0 0.01 0 2 0 0 1 Benign 0.05 52061 chr9 27455295 27455295 C T rs79546166 MOB3B Nonsynonymous SNV R85Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 14.03 52062 chrX 24637193 24637193 A C rs7060616 PCYT1B Synonymous SNV T24T 0.024 0.039 0.031 28 28 15 0.072 9 7 5 2 8 0.035 52063 chrX 153698372 153698372 C T PLXNA3 Synonymous SNV P1616P 0 0 0 0 0 0 0 0 0 0 0 0 15.1 52064 chrX 153760654 153760654 G A rs2230037 G6PD Synonymous SNV Y467Y 0.164 0.169 0.16 60 192 65 0.154 47 46 16 17 16 Benign/Likely benign 6.988 52065 chrX 135428531 135428531 A G ADGRG4 Nonsynonymous SNV D889G 0.003 0 0 0 4 0 0 0 0 0 0 0 1.11 52066 chrX 15332558 15332558 A G rs5935944 ASB11 Synonymous SNV R17R 0.352 0.385 0.347 158 413 148 0.405 102 132 50 39 62 6.359 52067 chrX 154157107 154157107 C A rs782477672 F8 Nonsynonymous SNV R1653M 0.021 0.016 0 4 25 6 0.01 0 6 2 0 0 Uncertain significance 22.8 52068 chr14 77333729 77333729 G T LRRC74A Nonsynonymous SNV V464F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 52069 chrX 154158201 154158201 T G rs1800292 F8 Synonymous SNV S1288S 0.135 0.135 0.153 52 158 52 0.133 45 37 12 15 15 Benign 0.105 52070 chrX 38158290 38158290 C T rs1801686 RPGR Synonymous SNV A388A 0.127 0.148 0.139 54 149 57 0.138 41 42 13 13 18 Benign 11.94 52071 chrX 117521338 117521338 G A rs17318100 WDR44 Synonymous SNV E49E 0.117 0.135 0.112 46 137 52 0.118 33 34 16 11 13 7.798 52072 chrX 135430803 135430803 C G rs111880833 ADGRG4 Synonymous SNV L1646L 0.006 0.013 0.037 8 7 5 0.021 11 1 1 4 1 1.067 52073 chr9 33135238 33135238 G A rs1065765 B4GALT1 Synonymous SNV H199H 0.074 0.07 0.099 31 87 27 0.079 29 2 1 0 0 Benign 8.142 52074 chrX 117528056 117528056 G A rs17271416 WDR44 Nonsynonymous SNV A264T 0.117 0.135 0.112 45 137 52 0.115 33 34 16 11 12 5.831 52075 chr9 33347707 33347707 T C NFX1 Nonsynonymous SNV M824T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.57 52076 chrX 117566782 117566782 C T rs10521584 WDR44 Synonymous SNV N567N 0.117 0.135 0.112 46 137 52 0.118 33 34 16 11 13 14.3 52077 chrX 47058461 47058461 C T rs368727585 UBA1 Synonymous SNV N44N 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign/Likely benign 14.85 52078 chrX 118250601 118250601 G T rs148521556 KIAA1210 Nonsynonymous SNV L170I 0.019 0.008 0.01 2 22 3 0.005 3 5 1 0 0 4.799 52079 chr9 138395969 138395969 A G rs3748199 MRPS2 Nonsynonymous SNV H294R 0.069 0.083 0.054 34 81 32 0.087 16 2 1 0 1 0.001 52080 chrX 48980008 48980008 C G GPKOW Nonsynonymous SNV G22A 0.002 0 0 0 2 0 0 0 1 0 0 0 8.205 52081 chrX 140967165 140967165 T C rs11095909 MAGEC3 Nonsynonymous SNV S155P 0.124 0.107 0.105 52 146 41 0.133 31 39 13 8 17 0.001 52082 chrX 140967195 140967195 T A rs11095910 MAGEC3 Nonsynonymous SNV L165M 0.118 0.107 0.105 52 139 41 0.133 31 38 13 8 17 0.001 52083 chr10 127684052 127684052 G A rs147888723 FANK1 Nonsynonymous SNV R122Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.57 52084 chrX 38079979 38079981 GCA - SRPX L23del 0 0 0 2 0 0 0.005 0 0 0 0 0 52085 chrX 38145181 38145192 TCCCCTTCCACT - rs199896738 RPGR V1025_E1028del 0.072 0.083 0 47 84 32 0.121 0 24 7 0 14 52086 chrX 140994017 140994017 T C rs75148863 MAGEC1 Nonsynonymous SNV F276S 0.007 0.016 0.01 3 8 6 0.008 3 1 2 1 0 0.043 52087 chr10 127693479 127693479 A G rs41302923 FANK1 Nonsynonymous SNV H183R 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 24.8 52088 chr9 215060 215060 G T rs141134256 DOCK8-AS1 0.037 0.055 0.031 13 43 21 0.033 9 3 0 0 1 11.65 52089 chr10 102016148 102016148 A G rs17112805 CWF19L1 Synonymous SNV G125G 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 Benign 2.51 52090 chrX 53115044 53115044 C T rs782104812 TSPYL2 Synonymous SNV N490N 0.002 0 0 0 2 0 0 0 1 0 0 0 13.65 52091 chr10 1279672 1279672 C T rs200268465 ADARB2 Nonsynonymous SNV A493T 0 0.003 0 0 0 1 0 0 0 0 0 0 31 52092 chrX 47308795 47308795 A C rs17147624 ZNF41 Nonsynonymous SNV I39R 0.021 0.034 0.034 12 25 13 0.031 10 6 3 4 4 Benign 4.542 52093 chr9 21854752 21854752 G A rs372861176 MTAP Synonymous SNV A191A 0.007 0.003 0 0 8 1 0 0 0 0 0 0 13.25 52094 chrX 129765459 129765459 C T rs200194256 ENOX2 Nonsynonymous SNV R504H 0.005 0 0 3 6 0 0.008 0 1 0 0 1 35 52095 chr9 35397166 35397166 C G rs41276043 UNC13B Nonsynonymous SNV F726L 0.009 0.016 0.014 7 10 6 0.018 4 0 0 0 0 Benign 24.6 52096 chrX 47326734 47326734 C G rs11797900 ZNF41 Nonsynonymous SNV K49N 0.021 0.034 0.027 12 25 13 0.031 8 6 3 3 4 5.829 52097 chrX 130408773 130408773 C T rs146525641 IGSF1 Nonsynonymous SNV R1175Q 0.005 0 0 3 6 0 0.008 0 1 0 0 1 24.9 52098 chr10 128807018 128807018 A C rs35541322 DOCK1 Synonymous SNV I336I 0.073 0.068 0.112 34 86 26 0.087 33 2 1 3 2 0.018 52099 chr9 35562393 35562393 - TAGT rs142582869 FAM166B Frameshift insertion M226Nfs*37 0.041 0.039 0.058 16 48 15 0.041 17 2 0 0 1 52100 chrX 130412018 130412018 C G rs146715796 IGSF1 Nonsynonymous SNV G702A 0.006 0.003 0.003 4 7 1 0.01 1 1 0 0 1 0.171 52101 chrX 30327367 30327367 G A rs6150 NR0B1 Synonymous SNV C38C 0.158 0.128 0.15 58 185 49 0.149 44 50 10 18 18 Benign 5.408 52102 chrX 130417174 130417174 C T rs147441841 IGSF1 Synonymous SNV L235L 0.005 0.016 0.017 2 6 6 0.005 5 1 3 2 0 Benign 11.59 52103 chrX 57515249 57515249 G A rs139175109 FAAH2 Nonsynonymous SNV G455R 0.009 0.008 0 5 10 3 0.013 0 2 1 0 2 25 52104 chrX 150349744 150349744 G A rs187995722 GPR50 Synonymous SNV S563S 0.022 0.008 0.017 4 26 3 0.01 5 8 1 1 0 Benign 8.503 52105 chrX 130678940 130678940 G A rs57328754 OR13H1 Nonsynonymous SNV R298Q 0.006 0.003 0.003 4 7 1 0.01 1 1 0 0 1 Benign 16.51 52106 chr9 35719608 35719608 C T TLN1 Nonsynonymous SNV R532H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 28.8 52107 chrX 31697636 31697636 A G rs1801188 DMD Synonymous SNV N116N 0.183 0.154 0.153 66 215 59 0.169 45 59 15 14 20 Benign 7.022 52108 chrX 132092485 132092485 G A rs181526961 HS6ST2 Nonsynonymous SNV S49L 0.019 0.008 0.014 5 22 3 0.013 4 6 0 2 2 22.9 52109 chr9 35819896 35819896 T C rs766891221 FAM221B Nonsynonymous SNV I282V 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 12.73 52110 chrX 66765158 66765158 - GCA rs3032358 AR Q80_E81insQ 0.009 0.034 0.007 4 11 13 0.01 2 3 5 1 2 52111 chrX 133923139 133923139 T C rs17317849 FAM122B Synonymous SNV Q84Q 0.038 0.029 0.031 12 45 11 0.031 9 11 3 3 4 6.438 52112 chrX 67652748 67652748 C T rs41303733 OPHN1 Nonsynonymous SNV V39I 0.081 0.083 0.075 40 95 32 0.103 22 22 6 8 14 Benign 22.3 52113 chrX 150791523 150791523 C T PASD1 Nonsynonymous SNV T178I 0.004 0 0 1 5 0 0.003 0 1 0 0 0 18.78 52114 chr14 88934592 88934592 T G rs151002751 PTPN21 Nonsynonymous SNV R1138S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 18.96 52115 chrX 134713855 134713855 G A rs2298301 INTS6L Synonymous SNV L717L 0.163 0.193 0.139 66 191 74 0.169 41 53 22 16 21 0.011 52116 chrX 54951464 54951464 C T rs45448595 TRO Nonsynonymous SNV P14L 0.032 0.055 0.044 23 37 21 0.059 13 8 7 5 6 24.1 52117 chrX 38079976 38079978 GCA - rs139109693 SRPX L23del 0.252 0.286 0.279 115 296 110 0.295 82 91 36 29 38 52118 chr14 88946053 88946053 G T rs28617592 PTPN21 Synonymous SNV P574P 0.04 0.026 0.065 20 47 10 0.051 19 5 1 0 2 1.84 52119 chr10 104163651 104163651 C T rs760161159 PSD Nonsynonymous SNV R931Q 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 25.5 52120 chr9 27524364 27524364 - TGTT rs144060127 IFNK Frameshift insertion W13Ffs*4 0.032 0.021 0.014 9 37 8 0.023 4 3 0 0 0 52121 chr10 104176471 104176471 C T rs117436403 PSD Nonsynonymous SNV A109T 0.018 0.021 0.024 15 21 8 0.038 7 0 0 0 1 27.6 52122 chr14 89085118 89085118 C G EML5 Nonsynonymous SNV S1805T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 52123 chr9 27556780 27556780 G A rs10122902 C9orf72 Synonymous SNV S290S 0.198 0.208 0.201 78 232 80 0.2 59 28 4 6 12 Benign 12.26 52124 chr9 139694613 139694613 C A rs35342663 CCDC183 Nonsynonymous SNV L144M 0.014 0.013 0.017 6 16 5 0.015 5 0 0 0 1 12.46 52125 chr9 27561628 27561628 T C rs17769294 C9orf72 Nonsynonymous SNV N207S 0.129 0.13 0.139 53 152 50 0.136 41 11 1 3 6 Likely benign 13.91 52126 chr14 90420298 90420298 C T rs3736860 EFCAB11 Synonymous SNV E41E 0.025 0.034 0.041 15 29 13 0.038 12 0 0 0 0 17.41 52127 chr14 90429749 90429749 A G rs3825663 TDP1 Synonymous SNV Q97Q 0.04 0.047 0.065 24 47 18 0.062 19 1 0 1 0 Benign 3.83 52128 chrX 48382174 48382174 G T rs3048 EBP Synonymous SNV A5A 0.229 0.279 0.248 81 269 107 0.208 73 77 36 29 23 Benign 3.315 52129 chrX 66766357 66766368 GGCGGCGGCGGC - rs746853821 AR G470_G473del 0.047 0.07 0.007 33 55 27 0.085 2 12 8 1 11 52130 chrX 48417710 48417710 C T rs146316025 TBC1D25 Synonymous SNV G243G 0.026 0.008 0.034 6 31 3 0.015 10 7 1 3 1 12.39 52131 chrX 67937275 67937275 C T rs41310627 STARD8 Synonymous SNV P93P 0.116 0.128 0.109 58 136 49 0.149 32 34 13 10 20 2.57 52132 chr9 37525118 37525118 G A rs79835897 FBXO10 Synonymous SNV N586N 0.018 0.023 0.007 14 21 9 0.036 2 0 1 0 0 17.19 52133 chr9 139734624 139734624 C T rs199511338 RABL6 Nonsynonymous SNV P651L 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 22.2 52134 chr10 13230915 13230915 C T rs35114749 MCM10 Nonsynonymous SNV A417V 0.005 0.01 0.01 10 6 4 0.026 3 0 0 0 0 25.3 52135 chrX 135618224 135618224 A G rs3027859 VGLL1 Synonymous SNV K15K 0.07 0.055 0.041 23 82 21 0.059 12 22 6 3 7 0.036 52136 chrX 152482824 152482824 C T rs2233044 MAGEA1 Nonsynonymous SNV A63T 0.027 0.023 0.031 20 32 9 0.051 9 6 1 3 6 0.141 52137 chrX 48771474 48771474 G A rs138305860 PIM2 Synonymous SNV A290A 0.015 0.018 0.014 7 18 7 0.018 4 5 2 2 2 0.422 52138 chrX 152584860 152584860 C A rs114536331 PNMA6F Nonsynonymous SNV A425S 0.239 0.201 0 79 281 77 0.203 0 83 22 0 24 7.003 52139 chrX 48838048 48838048 T G rs35608115 GRIPAP1 Nonsynonymous SNV E578A 0.016 0.018 0.014 7 19 7 0.018 4 5 2 2 2 19.79 52140 chrX 70888096 70888096 C T rs768974505 LOC101059915 Nonsynonymous SNV A148V 0.006 0.005 0 5 7 2 0.013 0 2 0 0 2 4.28 52141 chrX 152584951 152584951 G C rs147545699 PNMA6F Nonsynonymous SNV S394R 0.239 0.201 0 79 281 77 0.203 0 83 22 0 24 2.169 52142 chrX 78616923 78616923 C T rs138551324 ITM2A Synonymous SNV V158V 0.026 0.013 0.014 6 30 5 0.015 4 9 1 1 2 Benign 11.17 52143 chrX 50350726 50350726 - C rs587780460 SHROOM4 Frameshift insertion E1139Gfs*39 0.021 0.023 0.034 3 25 9 0.008 10 8 2 5 0 52144 chrX 50350728 50350728 - CC rs143151534 SHROOM4 Frameshift insertion E1140Kfs*42 0.02 0.023 0.041 3 24 9 0.008 12 8 2 6 0 52145 chrX 51644748 51644748 C A rs3199687 MAGED1 Synonymous SNV R687R 0.121 0.161 0.163 52 142 62 0.133 48 35 17 17 15 16.49 52146 chr9 3937160 3937160 C T rs149545036 GLIS3 Synonymous SNV R425R 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Uncertain significance 10.36 52147 chrX 139866477 139866477 T C rs41299075 CDR1 Nonsynonymous SNV I19V 0.119 0.135 0.071 41 140 52 0.105 21 42 14 8 10 0.001 52148 chrX 140983103 140983103 C T rs176025 MAGEC3 Synonymous SNV L320L 0.273 0.297 0.276 116 321 114 0.297 81 98 38 32 39 2.61 52149 chr9 4118758 4118758 G A rs752839353 GLIS3 Synonymous SNV H85H 0.007 0 0 0 8 0 0 0 0 0 0 0 Likely benign 0.015 52150 chrX 71915583 71915583 G A rs138066694 PHKA1 Synonymous SNV L143L 0.039 0.042 0.017 32 46 16 0.082 5 10 3 2 10 Benign 10.31 52151 chrX 54836361 54836361 A G rs1043031 MAGED2 Synonymous SNV S84S 0.295 0.297 0.33 103 346 114 0.264 97 112 37 37 36 3.28 52152 chrX 85219021 85219021 T C rs10217950 CHM Synonymous SNV A117A 0.325 0.352 0.286 126 382 135 0.323 84 119 50 33 47 Benign 3.864 52153 chrX 54836505 54836505 A G rs1043034 MAGED2 Synonymous SNV T132T 0.294 0.294 0.33 102 345 113 0.262 97 112 37 37 35 0.002 52154 chrX 86877348 86877348 G T rs2273050 KLHL4 Synonymous SNV G354G 0.187 0.161 0.116 60 219 62 0.154 34 61 19 12 18 3.529 52155 chrX 54837340 54837340 C T rs1043044 MAGED2 Synonymous SNV A208A 0.291 0.292 0.33 100 342 112 0.256 97 111 37 37 34 14.76 52156 chrX 15306063 15306063 T C rs35859007 ASB11 Nonsynonymous SNV S242G 0.034 0.029 0.058 6 40 11 0.015 17 12 3 5 2 7.809 52157 chrX 54838077 54838077 C T rs2071932 MAGED2 Synonymous SNV S327S 0.291 0.292 0.33 100 342 112 0.256 97 110 37 37 34 11.8 52158 chrX 140994591 140994591 C G rs176048 MAGEC1 Nonsynonymous SNV H467Q 0.202 0.201 0.265 92 237 77 0.236 78 59 24 31 27 0.001 52159 chr14 93412743 93412743 G A rs2295394 ITPK1 Synonymous SNV F159F 0.032 0.036 0.034 18 37 14 0.046 10 0 0 0 1 13.91 52160 chrX 144904192 144904192 C G rs376893929 SLITRK2 Synonymous SNV V83V 0.007 0 0.007 0 8 0 0 2 3 0 1 0 8.573 52161 chrX 147010320 147010320 G A rs25707 FMR1 Synonymous SNV R138R 0.098 0.133 0.139 32 115 51 0.082 41 32 13 13 8 Benign 8.543 52162 chr9 34107504 34107504 C T rs1378 DCAF12 Synonymous SNV R131R 0.069 0.083 0.068 23 81 32 0.059 20 3 1 2 1 11.96 52163 chrX 83128470 83128470 G A rs146830604 CYLC1 Nonsynonymous SNV G252R 0.004 0.013 0 3 5 5 0.008 0 2 1 0 1 16.05 52164 chrX 153296689 153296689 G A rs61749714 MECP2 Nonsynonymous SNV T209M 0.009 0.005 0 3 11 2 0.008 0 1 1 0 1 Benign/Likely benign 10.51 52165 chrX 83128514 83128514 G A rs145752404 CYLC1 Synonymous SNV R266R 0.004 0.013 0 3 5 5 0.008 0 2 1 0 1 1.484 52166 chrX 83129189 83129189 G T rs148458786 CYLC1 Nonsynonymous SNV E491D 0.004 0.013 0 3 5 5 0.008 0 2 1 0 1 6.859 52167 chr10 105762972 105762972 T C rs34326537 SLK Nonsynonymous SNV I679T 0.032 0.039 0.054 16 37 15 0.041 16 2 0 1 1 0.235 52168 chr9 34459025 34459025 G T rs11547035 DNAI1 Nonsynonymous SNV A8S 0.043 0.044 0.034 8 51 17 0.021 10 1 0 0 0 Benign/Likely benign 0.004 52169 chr9 140001755 140001755 C G rs766747336 MAN1B1 Synonymous SNV G540G 0 0.005 0 0 0 2 0 0 0 0 0 0 10.72 52170 chrX 83320017 83320017 C T rs6616890 RPS6KA6 Nonsynonymous SNV D692N 0.053 0.073 0.058 14 62 28 0.036 17 15 7 6 4 16.46 52171 chrX 153689642 153689642 C T rs188710474 PLXNA3 Synonymous SNV C266C 0.008 0 0 3 9 0 0.008 0 1 0 0 1 5.718 52172 chr14 94526467 94526467 C T rs201264775 DDX24 Synonymous SNV L630L 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 11.06 52173 chr14 94526885 94526885 A G rs199686333 DDX24 Nonsynonymous SNV M491T 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 23.2 52174 chrX 153694365 153694365 C T rs782794636 PLXNA3 Synonymous SNV L874L 0.005 0 0 0 6 0 0 0 1 0 0 0 10.92 52175 chr10 134594361 134594361 C T rs200446352 INPP5A Synonymous SNV S302S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.8 52176 chrX 92928102 92928102 - GCTGCCGCTGCTGCTGCTGCTGCTGCC NAP1L3 S67_T68insGSSSSSSGS 0.003 0.005 0 3 3 2 0.008 0 1 0 0 1 52177 chrX 99661969 99661969 G A rs1953337 PCDH19 Synonymous SNV L543L 0.161 0.143 0.167 71 189 55 0.182 49 52 16 18 24 Benign 1.561 52178 chr9 7046917 7046917 A G rs1417290 KDM4C Nonsynonymous SNV K517R 0.025 0.026 0.068 12 29 10 0.031 20 0 2 1 0 1.543 52179 chr9 140110748 140110748 C T rs145104982 NDOR1 Nonsynonymous SNV T517M 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 10.79 52180 chrX 15582209 15582209 C T rs35803318 ACE2 Synonymous SNV V749V 0.048 0.057 0.027 9 56 22 0.023 8 13 4 1 2 4.684 52181 chr9 140151498 140151498 C A rs757894574 NELFB Nonsynonymous SNV Q245K 0 0.005 0 0 0 2 0 0 0 0 0 0 29.9 52182 chr9 71869212 71869212 G A rs111595785 TJP2 Synonymous SNV E1057E 0.011 0.021 0.014 12 13 8 0.031 4 1 0 0 1 Benign/Likely benign 7.87 52183 chr10 134942615 134942615 G A rs144212964 ADGRA1 Nonsynonymous SNV R331Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 52184 chrX 74334588 74334588 C T rs61323727 ABCB7 0.016 0.026 0.01 7 19 10 0.018 3 6 3 1 1 Conflicting interpretations of pathogenicity 25.2 52185 chrX 152482796 152482796 C T rs2008144 MAGEA1 Nonsynonymous SNV R72Q 0.043 0.07 0.065 27 50 27 0.069 19 7 8 8 6 0.009 52186 chrX 100749088 100749088 G A rs200930975 ARMCX4 Nonsynonymous SNV G1838R 0.014 0.008 0.014 3 17 3 0.008 4 3 0 2 1 16.24 52187 chr9 140243880 140243880 G A rs35097575 EXD3 Nonsynonymous SNV T533M 0.055 0.057 0.024 23 65 22 0.059 7 2 0 0 1 Benign 22.8 52188 chr9 35906584 35906586 CCA - rs143611048 HRCT1 H105del 0.072 0.063 0 38 84 24 0.097 0 7 1 0 1 52189 chr9 368030 368030 T C rs10972587 DOCK8 Synonymous SNV Y496Y 0.027 0.029 0.02 7 32 11 0.018 6 0 0 0 1 Benign 0.364 52190 chr9 140268046 140268046 C T rs7389250 EXD3 Synonymous SNV R42R 0.101 0.094 0.085 36 119 36 0.092 25 6 2 2 4 15.76 52191 chrX 152821553 152821553 G A rs782587313 ATP2B3 Nonsynonymous SNV R702H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 52192 chr9 72912914 72912914 G A rs61752954 SMC5 Synonymous SNV K362K 0.034 0.023 0.024 8 40 9 0.021 7 0 0 0 0 13.06 52193 chr9 72933774 72933774 A G rs11142365 SMC5 Nonsynonymous SNV H682R 0.066 0.049 0.085 16 78 19 0.041 25 1 1 1 0 0.072 52194 chr14 95110017 95110017 G T rs1884084 SERPINA13P 0 0 0.418 0 0 0 0 123 0 0 27 0 3.37 52195 chrX 23019317 23019317 G T rs5925720 DDX53 Nonsynonymous SNV M381I 0.143 0.138 0.099 54 168 53 0.138 29 49 15 10 15 25.3 52196 chrX 153005605 153005605 G A rs41314153 ABCD1 Synonymous SNV L516L 0.093 0.099 0.122 32 109 38 0.082 36 30 9 12 8 Benign 8.374 52197 chrX 23019346 23019346 G T rs5926203 DDX53 Nonsynonymous SNV R391M 0.152 0.138 0.116 54 179 53 0.138 34 51 15 12 15 3.511 52198 chr1 1149480 1149480 G A rs35304565 TNFRSF4 Nonsynonymous SNV R10C 0.01 0.005 0.014 5 12 2 0.013 4 0 0 0 0 Benign 22 52199 chr10 115348046 115348046 G A rs7080536 HABP2 Nonsynonymous SNV G508E 0.027 0.021 0.017 5 32 8 0.013 5 1 0 0 0 Likely benign 26.4 52200 chrX 107413851 107413851 T C rs34466065 COL4A6 Nonsynonymous SNV I1161V 0.103 0.112 0.085 40 121 43 0.103 25 29 14 9 12 Benign 0.026 52201 chr1 1221011 1221011 C A rs780589894 SCNN1D Synonymous SNV P175P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.286 52202 chrX 24760172 24760172 T C rs755711146 POLA1 Synonymous SNV H800H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.248 52203 chr1 1222267 1222267 G C rs11260579 SCNN1D Nonsynonymous SNV R344P 0.018 0.008 0.031 8 21 3 0.021 9 1 0 0 0 20.6 52204 chr1 1223385 1223385 G C rs2228579 SCNN1D Nonsynonymous SNV E544Q 0.021 0.008 0.031 8 25 3 0.021 9 1 0 0 0 0.003 52205 chr14 98217929 98217929 T C rs12893126 LINC02312 0 0 0.714 0 0 0 0 210 0 0 76 0 2.071 52206 chrY 14832620 14832620 G T rs7067496 USP9Y Nonsynonymous SNV E65D 0.073 0.104 0.088 31 86 40 0.079 26 43 20 13 15 1.944 52207 chrY 15467824 15467824 A G rs2032654 UTY Synonymous SNV S368S 0.073 0.099 0.068 26 86 38 0.067 20 43 19 10 13 4.99 52208 chrY 15591537 15591537 G C rs2032653 UTY Synonymous SNV S3S 0.073 0.104 0.088 29 86 40 0.074 26 43 20 13 14 8.284 52209 chr9 140646793 140646793 A C rs773281152 EHMT1 Nonsynonymous SNV E363A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 52210 chrX 114424508 114424508 G T rs12848233 RBMXL3 Synonymous SNV S168S 0.073 0.065 0.044 21 86 25 0.054 13 19 5 3 5 0.987 52211 chr9 386414 386414 A T rs117610764 DOCK8 Synonymous SNV P886P 0.014 0.016 0 3 17 6 0.008 0 0 0 0 0 Benign 9.002 52212 chr9 78804093 78804093 T C rs138949162 PCSK5 Nonsynonymous SNV Y822H 0.006 0 0 0 7 0 0 0 0 0 0 0 23.2 52213 chr9 449798 449798 G A rs10491684 DOCK8 Synonymous SNV P1844P 0.069 0.065 0.058 16 81 25 0.041 17 10 1 1 0 Benign 11.71 52214 chr10 13699234 13699239 CTGCCT - rs763778182 FRMD4A Q478_R479del 0 0.003 0 0 0 1 0 0 0 0 0 0 52215 chr10 14574589 14574589 G A rs145779254 FAM107B Stop gain R20X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.754 52216 chrX 153420159 153420159 T C rs148583295 OPN1LW Nonsynonymous SNV I230T 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 1.998 52217 chr15 100889442 100889442 A G rs4965642 SPATA41 0 0 0.218 0 0 0 0 64 0 0 8 0 5.711 52218 chr10 116889272 116889272 A G rs77597486 ATRNL1 Synonymous SNV L268L 0.027 0.023 0.024 14 32 9 0.036 7 1 0 0 0 5.581 52219 chrX 153580576 153580576 G A rs113510895 FLNA Synonymous SNV L2240L 0.021 0.008 0.02 5 25 3 0.013 6 5 1 2 1 Benign/Likely benign 5.764 52220 chr10 15146020 15146020 T C rs145152071 RPP38 Nonsynonymous SNV F236S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.506 52221 chr15 101094174 101094174 C T rs35852295 PRKXP1 0 0 0.272 0 0 0 0 80 0 0 9 0 5.625 52222 chr9 5462979 5462979 C T rs200229222 CD274 Synonymous SNV T66T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.867 52223 chr15 101099076 101099076 G A rs12916563 PRKXP1 0 0 0.238 0 0 0 0 70 0 0 8 0 3.835 52224 chr9 5770273 5770273 A G rs147192288 RIC1 Nonsynonymous SNV N1167S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.41 52225 chr10 101147720 101147720 C T rs17490682 CNNM1 Synonymous SNV D828D 0.019 0.021 0.02 13 22 8 0.033 6 0 2 1 0 13.78 52226 chr9 79117770 79117770 C G rs11546569 GCNT1 Nonsynonymous SNV S158C 0.013 0.01 0.01 2 15 4 0.005 3 0 0 0 0 26.2 52227 chr9 5968670 5968670 T C rs777928055 KIAA2026 Nonsynonymous SNV N521D 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 24.4 52228 chr10 118228763 118228763 T C rs7077408 PNLIPRP3 Nonsynonymous SNV F332L 0.049 0.044 0.065 20 57 17 0.051 19 1 2 0 2 0.357 52229 chrX 35938045 35938045 C T rs6629019 CFAP47 Synonymous SNV I43I 0.124 0.107 0.204 56 146 41 0.144 60 41 12 21 17 8.938 52230 chr9 18684731 18684731 G T rs149221350 ADAMTSL1 Nonsynonymous SNV A503S 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 31 52231 chr9 18928210 18928210 G A rs34243148 SAXO1 Nonsynonymous SNV A357V 0.05 0.057 0.034 14 59 22 0.036 10 1 0 0 0 25.6 52232 chr9 18928441 18928441 T C rs34044510 SAXO1 Nonsynonymous SNV K280R 0.05 0.057 0.034 14 59 22 0.036 10 1 0 0 0 13.58 52233 chr9 18928536 18928536 G C rs34932739 SAXO1 Nonsynonymous SNV C248W 0.05 0.057 0.037 14 59 22 0.036 11 1 0 0 0 22.9 52234 chr9 71861685 71861685 G A rs11788754 TJP2 Synonymous SNV A886A 0.034 0.047 0.031 16 40 18 0.041 9 0 0 0 0 Benign/Likely benign 14.87 52235 chr15 21936715 21936715 G A rs4984138 LOC646214 0 0 0.272 0 0 0 0 80 0 0 0 0 13.75 52236 chr10 11911986 11911986 C A rs775942718 PROSER2 Nonsynonymous SNV P297T 0.008 0.005 0.003 8 9 2 0.021 1 0 0 0 0 7.485 52237 chr15 21936801 21936801 T C rs61999620 LOC646214 0 0 0.102 0 0 0 0 30 0 0 0 0 0.329 52238 chrX 23723711 23723711 C G rs56378612 ACOT9 Nonsynonymous SNV E243Q 0.06 0.047 0.078 21 70 18 0.054 23 13 5 8 5 18.17 52239 chr9 71863038 71863038 C T rs140442228 TJP2 Synonymous SNV D930D 0.034 0.047 0.031 16 40 18 0.041 9 0 0 0 0 Benign/Likely benign 16.87 52240 chr10 119799848 119799848 G A rs181778356 RAB11FIP2 Synonymous SNV P194P 0.003 0 0.003 5 3 0 0.013 1 0 0 0 0 0.04 52241 chrX 44703935 44703935 T C rs1045031 DUSP21 Nonsynonymous SNV M186T 0.076 0.073 0.058 46 89 28 0.118 17 17 7 7 13 0.002 52242 chr10 120446114 120446114 A G rs12440 CACUL1 Synonymous SNV A355A 0.041 0.044 0.02 15 48 17 0.038 6 0 0 0 0 10.42 52243 chrX 44938563 44938563 G A rs20539 KDM6A Synonymous SNV Q958Q 0.198 0.185 0.221 69 233 71 0.177 65 70 16 22 23 Benign 4.678 52244 chr10 102248695 102248695 C G rs747121095 SEC31B Nonsynonymous SNV E1070Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 25.6 52245 chr1 2435738 2435738 G A rs114371513 PLCH2 Nonsynonymous SNV A1113T 0.042 0.023 0.051 15 49 9 0.038 15 0 1 0 0 1.624 52246 chrX 46332301 46332301 A C rs144294150 KRBOX4 Synonymous SNV R124R 0.01 0.005 0.024 1 12 2 0.003 7 3 0 2 0 0.073 52247 chr9 20414310 20414310 A G rs148318848 MLLT3 Synonymous SNV S175S 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 0.321 52248 chr1 2436303 2436303 A C rs79405490 PLCH2 Nonsynonymous SNV E1301A 0.042 0.023 0.054 15 49 9 0.038 16 0 1 1 0 3.252 52249 chrX 47272480 47272480 G A rs61736399 ZNF157 Synonymous SNV G336G 0.016 0.016 0.01 4 19 6 0.01 3 5 2 1 1 Benign 8.265 52250 chr15 25231988 25231988 C G rs59131251 PWAR5 0 0 0.122 0 0 0 0 36 0 0 2 0 0.031 52251 chrX 47272970 47272970 A G rs61736398 ZNF157 Nonsynonymous SNV T500A 0.018 0.016 0.01 4 21 6 0.01 3 5 2 1 1 Benign 0.008 52252 chr9 84208039 84208039 G A rs61733324 TLE1 Synonymous SNV N504N 0.014 0.016 0.027 6 16 6 0.015 8 0 0 0 0 10.49 52253 chrX 140994610 140994610 C G rs144000269 MAGEC1 Nonsynonymous SNV P474A 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.008 52254 chr15 25415759 25415759 G A rs2714734 SNHG14 0 0 0.575 0 0 0 0 169 0 0 75 0 4.343 52255 chr15 25415809 25415809 C T rs2739838 SNHG14 0 0 0.65 0 0 0 0 191 0 0 83 0 6.401 52256 chrX 140994640 140994640 T - rs776837695 MAGEC1 S484Pfs*9 0.001 0 0 1 1 0 0.003 0 0 0 0 0 52257 chr15 25442757 25442757 G C rs72546352 SNORD115-15 0 0 0.003 0 0 0 0 1 0 0 0 0 6.948 52258 chrX 140994642 140994643 CT - rs760003974 MAGEC1 S485Lfs*15 0.001 0 0 1 1 0 0.003 0 0 0 0 0 52259 chrX 140994650 140994650 C T rs780956948 MAGEC1 Nonsynonymous SNV S487F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.58 52260 chr15 25514778 25514778 T C rs117051492 SNHG14 0 0 0.112 0 0 0 0 33 0 0 2 0 8.375 52261 chrX 2945477 2945477 C T rs61751925 ARSH Nonsynonymous SNV T387M 0.078 0.068 0.092 37 91 26 0.095 27 14 6 11 10 Benign 25.1 52262 chrX 140994664 140994664 T G MAGEC1 Nonsynonymous SNV L492V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.361 52263 chrX 140994670 140994670 C A rs773398250 MAGEC1 Nonsynonymous SNV L494I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.227 52264 chr15 25926198 25926198 C G rs2076742 ATP10A Nonsynonymous SNV W1172C 0.123 0.109 0.133 51 144 42 0.131 39 5 3 3 5 24.2 52265 chr15 25926204 25926204 C G rs2076741 ATP10A Synonymous SNV T1170T 0.123 0.109 0.133 51 144 42 0.131 39 5 3 3 5 9.926 52266 chrX 147800737 147800737 G A rs140788054 AFF2 Synonymous SNV P11P 0.023 0.042 0.024 26 27 16 0.067 7 6 6 3 9 1.6 52267 chr9 85958172 85958172 G A rs200748713 FRMD3 Synonymous SNV D135D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 9.154 52268 chr9 26997968 26997968 A G rs149572117 LRRC19 Nonsynonymous SNV L118S 0.01 0.021 0.01 4 12 8 0.01 3 0 0 0 0 0.158 52269 chr1 2938569 2938569 C T rs35806103 ACTRT2 Synonymous SNV L107L 0.02 0.003 0.044 5 24 1 0.013 13 0 0 0 0 0.318 52270 chr9 88661459 88661459 G A rs373928322 GOLM1 Synonymous SNV Y131Y 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 8.497 52271 chr1 2938924 2938924 T G rs72629486 ACTRT2 Nonsynonymous SNV L225W 0.02 0.003 0.044 5 24 1 0.013 13 0 0 0 0 12.62 52272 chrX 150840239 150840239 T G rs145547891 PASD1 Synonymous SNV V475V 0.003 0.01 0 3 4 4 0.008 0 1 1 0 1 0.108 52273 chr10 22862282 22862282 T C rs10508649 PIP4K2A Synonymous SNV V140V 0.01 0.021 0.003 4 12 8 0.01 1 0 0 0 0 9.527 52274 chr9 90343505 90343505 G A rs11541204 CTSL Synonymous SNV Q134Q 0.036 0.036 0.024 10 42 14 0.026 7 1 0 0 0 10.05 52275 chr9 27197368 27197368 T C rs35357088 TEK Synonymous SNV N413N 0.036 0.036 0.024 12 42 14 0.031 7 0 0 0 0 Benign 5.006 52276 chrX 50654091 50654091 A G rs41308602 BMP15 Nonsynonymous SNV N103S 0.089 0.081 0.058 37 105 31 0.095 17 24 9 3 11 Benign 0.001 52277 chrX 32490403 32490403 G A rs199986217 DMD Nonsynonymous SNV R935C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.9 52278 chr9 91978397 91978397 C T rs13295305 SEMA4D Nonsynonymous SNV R713K 0.078 0.099 0.082 27 91 38 0.069 24 0 3 1 1 14.97 52279 chr15 30053844 30053844 A G rs17671751 TJP1 Synonymous SNV L274L 0.032 0.016 0.031 4 37 6 0.01 9 0 0 0 0 0.004 52280 chr9 91978783 91978783 G A rs45515192 SEMA4D Synonymous SNV P655P 0.076 0.094 0.082 23 89 36 0.059 24 0 2 1 1 8.414 52281 chr10 23578875 23578875 A G rs186852463 C10orf67 Nonsynonymous SNV I289T 0.003 0.005 0.014 4 3 2 0.01 4 0 0 0 0 11.89 52282 chr9 94487066 94487066 C T rs41277837 ROR2 Synonymous SNV P570P 0.024 0.036 0.02 13 28 14 0.033 6 0 0 0 1 Benign 10.34 52283 chrX 152037592 152037592 C T rs142351862 NSDHL Synonymous SNV L352L 0.013 0.026 0.003 11 15 10 0.028 1 3 2 0 3 Benign 10.28 52284 chrX 53654402 53654402 T C rs41307640 HUWE1 Nonsynonymous SNV N483S 0.026 0.029 0.02 3 30 11 0.008 6 6 3 3 0 Benign 0.009 52285 chr15 31775728 31775728 G C OTUD7A Synonymous SNV T850T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.973 52286 chr15 33091103 33091105 CTT - rs145013933 FMN1 K1121del 0.032 0.023 0.017 10 37 9 0.026 5 1 0 0 0 52287 chr10 25313367 25313367 A G rs34206149 THNSL1 Synonymous SNV A405A 0.006 0.01 0 10 7 4 0.026 0 0 0 0 0 4.434 52288 chr9 32488096 32488096 G A rs45471397 DDX58 Synonymous SNV N353N 0.009 0.013 0 1 11 5 0.003 0 0 0 0 0 Benign 9.2 52289 chrX 37518806 37518806 C T rs12009345 LANCL3 Synonymous SNV S263S 0.138 0.174 0.15 57 162 67 0.146 44 43 20 16 19 16.48 52290 chr10 123846339 123846339 C A TACC2 Nonsynonymous SNV L1442I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.4 52291 chrX 37527659 37527659 T C rs28503960 LANCL3 Nonsynonymous SNV L381P 0.11 0.148 0.15 51 129 57 0.131 44 32 17 16 17 2.532 52292 chrX 37850263 37850263 C T rs17146924 H2AP Synonymous SNV L57L 0.025 0.021 0.027 15 29 8 0.038 8 8 0 2 6 10.27 52293 chrX 38145021 38145021 A T rs62636730 RPGR Nonsynonymous SNV N1077K 0.036 0.016 0.065 7 42 6 0.018 19 13 1 6 2 Likely benign 19.62 52294 chrX 38147170 38147170 C T rs1801688 RPGR Nonsynonymous SNV G504E 0.059 0.023 0.068 16 69 9 0.041 20 22 2 6 4 Benign 15.37 52295 chrX 38147269 38147269 G A rs41312104 RPGR Nonsynonymous SNV T471M 0.036 0.016 0.058 7 42 6 0.018 17 13 1 5 2 Benign 0.006 52296 chr10 27475445 27475445 G A rs138288481 MASTL Nonsynonymous SNV V835I 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 Benign/Likely benign 16.82 52297 chr9 96214972 96214972 A G FAM120AOS Nonsynonymous SNV I7T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.024 52298 chr10 105361900 105361900 G A rs3781364 SH3PXD2A Synonymous SNV A906A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.248 52299 chrX 38147286 38147288 TTG - rs62653033 RPGR Q465del 0.036 0.016 0.037 6 42 6 0.015 11 13 1 3 1 52300 chrX 38156677 38156677 C T rs1801687 RPGR Nonsynonymous SNV R363K 0.053 0.023 0.068 12 62 9 0.031 20 20 2 6 2 Benign 0.002 52301 chrX 69478432 69478432 C T rs41310667 P2RY4 Stop gain W348X 0.055 0.073 0.027 15 65 28 0.038 8 15 6 3 5 36 52302 chrX 38226603 38226603 A G rs1800321 OTC Nonsynonymous SNV K46R 0.285 0.224 0.286 114 335 86 0.292 84 111 28 31 38 Benign 10.08 52303 chrX 69478749 69478749 G T rs3829708 P2RY4 Synonymous SNV R242R 0.086 0.081 0.058 15 101 31 0.038 17 26 7 5 5 0.002 52304 chrX 69478775 69478775 A C rs3829709 P2RY4 Nonsynonymous SNV S234A 0.088 0.083 0.058 16 103 32 0.041 17 26 7 5 5 0.001 52305 chrX 69478942 69478942 T G rs1152187 P2RY4 Nonsynonymous SNV N178T 0.207 0.182 0.17 68 243 70 0.174 50 69 20 19 20 0.003 52306 chrX 69489530 69489530 C T rs3818862 ARR3 Synonymous SNV S9S 0.084 0.081 0.058 15 99 31 0.038 17 25 7 5 5 11.14 52307 chrX 69550098 69550098 T C rs41305391 KIF4A Synonymous SNV Y329Y 0.089 0.102 0.058 19 104 39 0.049 17 26 10 5 6 0.256 52308 chr1 6228328 6228330 TCT - rs781102956 CHD5 E29del 0.002 0 0 0 2 0 0 0 0 0 0 0 52309 chr15 39544512 39544512 C T rs11853050 C15orf54 0 0 0.068 0 0 0 0 20 0 0 0 0 0.027 52310 chr9 86292817 86292817 T C rs745925260 UBQLN1 Synonymous SNV Q310Q 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 3.777 52311 chr9 86570525 86570525 G A rs200742205 C9orf64 Nonsynonymous SNV A123V 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 29 52312 chr10 106401380 106401380 G A rs117144385 SORCS3 Nonsynonymous SNV G99S 0.035 0.031 0.037 10 41 12 0.026 11 2 0 1 0 0.274 52313 chr10 124895953 124895953 C A rs375516651 HMX3 Synonymous SNV L129L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.74 52314 chrX 47308383 47308383 C T rs2498490 ZNF41 Synonymous SNV Q176Q 0.014 0.013 0.01 2 16 5 0.005 3 5 0 1 0 Benign 11.6 52315 chr10 125780754 125780754 G - CHST15 R456Vfs*28 0.034 0.023 0 26 40 9 0.067 0 0 0 0 0 52316 chr9 35612978 35612978 G A rs34791102 CD72 Nonsynonymous SNV P234L 0.046 0.047 0.051 16 54 18 0.041 15 1 0 1 1 13.48 52317 chr1 6521503 6521503 G A rs1059332 TNFRSF25 Synonymous SNV R232R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.09 52318 chr9 91793085 91793085 C G rs61755089 SHC3 Synonymous SNV S97S 0.009 0.005 0.048 4 10 2 0.01 14 0 0 1 1 9.463 52319 chr1 6524649 6524649 T C rs35137293 TNFRSF25 Synonymous SNV L97L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 3.645 52320 chrX 48547317 48547317 G A rs375356111 WAS Synonymous SNV P400P 0.005 0.003 0 0 6 1 0 0 2 0 0 0 Benign/Likely benign 1.788 52321 chr1 902108 902108 C T rs62639981 PLEKHN1 Synonymous SNV A36A 0.014 0.021 0.014 11 16 8 0.028 4 0 0 0 0 12.08 52322 chr1 6525257 6525257 C T rs45438594 TNFRSF25 Synonymous SNV T62T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.81 52323 chr1 6525592 6525592 C T rs35771371 TNFRSF25 Nonsynonymous SNV R23Q 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.41 52324 chr9 35853517 35853517 C T rs148540551 TMEM8B Nonsynonymous SNV R819C 0.032 0.036 0.014 12 37 14 0.031 4 0 0 0 0 35 52325 chrX 101912681 101912681 G A rs148062032 GPRASP1 Synonymous SNV G1280G 0.003 0 0 2 4 0 0.005 0 1 0 0 1 Benign 8.299 52326 chr9 35869801 35869801 G A rs150584050 OR13J1 Synonymous SNV L200L 0.032 0.036 0.014 12 37 14 0.031 4 0 0 0 0 1.057 52327 chr15 40565817 40565817 G T rs35644942 BUB1B-PAK6, PAK6 Synonymous SNV L561L 0.006 0 0.003 4 7 0 0.01 1 0 0 0 0 10.93 52328 chr1 6536076 6536076 C T rs112530241 PLEKHG5 Nonsynonymous SNV V22M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 52329 chr10 3172145 3172145 C T rs1052337 PFKP Synonymous SNV F339F 0.11 0.12 0.095 58 129 46 0.149 28 9 2 3 4 11.81 52330 chrX 103267974 103267974 G A rs17332043 H2BW1 Nonsynonymous SNV R87W 0.019 0.01 0.017 4 22 4 0.01 5 6 1 1 0 21.3 52331 chr15 40656141 40656141 T C rs12443160 DISP2 Synonymous SNV H145H 0.049 0.052 0.044 18 57 20 0.046 13 2 0 0 0 0.471 52332 chr15 40661013 40661013 G T rs61734053 DISP2 Synonymous SNV L900L 0.026 0.039 0.027 15 31 15 0.038 8 0 0 0 0 0.208 52333 chr1 6615444 6615444 G A rs35375392 TAS1R1 Nonsynonymous SNV C4Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 52334 chr1 977473 977473 G A rs758713569 AGRN Nonsynonymous SNV D439N 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Uncertain significance 23.6 52335 chr15 40662501 40662501 G A rs4514650 DISP2 Synonymous SNV T1396T 0.048 0.052 0.044 17 56 20 0.044 13 1 0 0 0 3.759 52336 chr10 3190013 3190013 G C rs10508248 PITRM1-AS1 0.078 0.073 0.119 44 91 28 0.113 35 8 3 3 7 3.724 52337 chr10 3190166 3190166 C A rs59486411 PITRM1-AS1 0.13 0.133 0.112 61 153 51 0.156 33 8 3 3 7 9.074 52338 chr9 36169894 36169894 A G rs117143733 CCIN Nonsynonymous SNV N132S 0.028 0.026 0.014 9 33 10 0.023 4 0 0 0 0 23.2 52339 chr1 6662194 6662194 G A rs772702741 KLHL21 Synonymous SNV F228F 0.002 0 0 0 2 0 0 0 0 0 0 0 12 52340 chr10 3191823 3191823 C T rs2388556 PITRM1 Nonsynonymous SNV V589I 0.132 0.141 0.112 62 155 54 0.159 33 8 3 3 6 24.2 52341 chr1 1116231 1116231 T C rs13374146 TTLL10 Nonsynonymous SNV V176A 0.067 0.047 0.065 46 79 18 0.118 19 5 2 0 1 0.001 52342 chrX 55054238 55054238 C T rs189947718 ALAS2 Star tloss M1? 0.007 0.01 0 5 8 4 0.013 0 1 1 0 2 Benign 3.585 52343 chr1 1118275 1118275 C T rs61733845 TTLL10 Synonymous SNV C239C 0.044 0.034 0.058 35 52 13 0.09 17 3 1 0 0 10.37 52344 chr9 37486049 37486049 C A rs767691203 POLR1E Nonsynonymous SNV A2E 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 20.2 52345 chrX 110987996 110987996 - CCT rs754237367 ALG13 P945_A946insP 0.032 0.044 0 17 37 17 0.044 0 7 4 0 4 52346 chr10 3207632 3207632 A G rs3814596 PITRM1 Nonsynonymous SNV F137S 0.176 0.156 0.136 78 207 60 0.2 40 23 3 6 5 24.8 52347 chr9 37588898 37588898 T C rs200232709 TOMM5 Nonsynonymous SNV I51M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.73 52348 chrX 111698463 111698463 C T rs112035132 RTL4 Synonymous SNV L169L 0.095 0.128 0.088 34 112 49 0.087 26 22 16 9 10 10.34 52349 chrX 9905342 9905342 A G rs2073945 SHROOM2 Synonymous SNV T87T 0.043 0.031 0.027 9 51 12 0.023 8 13 2 3 2 0.002 52350 chrX 9905440 9905440 G T rs150369562 SHROOM2 Nonsynonymous SNV G120V 0.033 0.023 0 6 39 9 0.015 0 9 1 0 2 0.006 52351 chr10 129904286 129904286 G A rs146273614 MKI67 Nonsynonymous SNV R1580W 0.012 0.01 0.01 3 14 4 0.008 3 0 0 0 0 Likely benign 10.63 52352 chrX 67283825 67283825 G T rs143713841 OPHN1 Nonsynonymous SNV L677M 0.008 0.01 0.003 0 9 4 0 1 1 1 0 0 Conflicting interpretations of pathogenicity 8.355 52353 chr1 9034483 9034483 C T rs74050967 CA6 Synonymous SNV L308L 0.01 0.013 0.027 11 12 5 0.028 8 1 0 0 0 8.064 52354 chr9 98734269 98734269 C G rs4742801 ERCC6L2 Nonsynonymous SNV L757V 0.029 0.034 0.024 12 34 13 0.031 7 1 0 0 0 8.762 52355 chr9 406999 406999 C T rs34390308 DOCK8 Nonsynonymous SNV R1054C 0.011 0.005 0.003 0 13 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 52356 chr9 98775235 98775235 T C rs3739756 ERCC6L2 Nonsynonymous SNV M1479T 0.028 0.031 0.024 12 33 12 0.031 7 1 0 0 0 2.757 52357 chr15 42138199 42138199 G A JMJD7-PLA2G4B, PLA2G4B Synonymous SNV E518E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 52358 chr1 1550992 1550992 C A rs199741261 MIB2 Stop gain C51X 0.009 0.005 0 6 11 2 0.015 0 0 0 0 0 Likely benign 24.4 52359 chrX 117032973 117032973 C G rs6645983 KLHL13 Synonymous SNV L616L 0.073 0.068 0.078 39 86 26 0.1 23 23 5 8 14 0.878 52360 chrX 117053499 117053499 C T rs6645994 KLHL13 Synonymous SNV V179V 0.073 0.07 0.078 37 86 27 0.095 23 24 6 8 14 2.73 52361 chr9 4286139 4286139 G A rs143425492 GLIS3 Nonsynonymous SNV P96L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.031 52362 chr1 1560793 1560793 C T rs369835622 MIB2 Synonymous SNV N333N 0.015 0.01 0.003 9 18 4 0.023 1 0 0 0 0 Benign 0.417 52363 chr15 42150801 42150801 C T rs55649878 SPTBN5 Nonsynonymous SNV R2742Q 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 0.011 52364 chrX 117764343 117764343 C T rs753862087 DOCK11 Nonsynonymous SNV T1259I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 52365 chrX 117817083 117817083 A T DOCK11 Nonsynonymous SNV E2002V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 52366 chrX 118219347 118219347 T C rs2305570 KIAA1210 Nonsynonymous SNV E1616G 0.078 0.099 0.112 37 91 38 0.095 33 21 12 12 13 7.843 52367 chr9 5065003 5065003 C G rs2230723 JAK2 Nonsynonymous SNV L244V 0.015 0.016 0.003 3 18 6 0.008 1 0 1 0 0 Benign 12.33 52368 chr10 101439619 101439619 C T rs139519525 ENTPD7 Nonsynonymous SNV L179F 0.002 0 0 0 2 0 0 0 0 0 0 0 28 52369 chrX 118220720 118220720 A G rs3813932 KIAA1210 Synonymous SNV S1491S 0.078 0.099 0.102 36 91 38 0.092 30 21 12 11 13 0.262 52370 chrX 118222360 118222360 T A rs3761592 KIAA1210 Nonsynonymous SNV I945F 0.077 0.104 0.102 37 90 40 0.095 30 21 13 11 13 0.001 52371 chr10 45430553 45430553 T C rs759085092 TMEM72 Nonsynonymous SNV S149P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.269 52372 chrX 110978328 110978328 C T rs892500399 ALG13 Nonsynonymous SNV T674I 0.006 0 0 1 7 0 0.003 0 3 0 0 0 21.3 52373 chr1 1690551 1690551 G A rs146614907 NADK Synonymous SNV G188G 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 2.228 52374 chr10 134021634 134021634 G C rs146688423 STK32C Synonymous SNV L460L 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 Benign 0.51 52375 chr9 5921340 5921340 C T rs77465944 KIAA2026 Synonymous SNV P1552P 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Benign 12.13 52376 chrX 124456399 124456399 A G rs3135237 TEX13C Nonsynonymous SNV S811G 0.126 0.094 0.116 29 148 36 0.074 34 39 9 12 8 0.356 52377 chrX 118920677 118920677 T C rs139139562 RPL39 Synonymous SNV R42R 0.012 0.021 0 6 14 8 0.015 0 3 2 0 1 7.092 52378 chr10 118425132 118425132 G A rs149617229 C10orf82 Synonymous SNV H87H 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 1.261 52379 chr10 118969346 118969346 T C rs363315 KCNK18 Nonsynonymous SNV S231P 0.032 0.034 0.034 11 37 13 0.028 10 0 0 1 0 7.249 52380 chr1 1896333 1896333 G A rs61734005 CFAP74 Synonymous SNV H523H 0.008 0.013 0.014 6 9 5 0.015 4 0 0 0 0 0.452 52381 chrX 92964617 92964617 G A rs34123774 FAM133A Nonsynonymous SNV E67K 0.048 0.047 0.024 16 56 18 0.041 7 12 7 2 4 25.2 52382 chrX 9863266 9863266 G A rs151274823 SHROOM2 Nonsynonymous SNV A440T 0.017 0.01 0.007 3 20 4 0.008 2 5 0 1 1 0.07 52383 chr10 11912065 11912065 C G rs17857360 PROSER2 Nonsynonymous SNV P323R 0.017 0.016 0.037 17 20 6 0.044 11 1 0 0 0 Benign 7.395 52384 chrX 125686536 125686536 T C rs11095722 DCAF12L1 Nonsynonymous SNV D19G 0.043 0.01 0.017 18 51 4 0.046 5 17 1 1 4 0.001 52385 chr1 11839033 11839033 G T rs55668272 C1orf167 Nonsynonymous SNV W849C 0.024 0.031 0.024 22 28 12 0.056 7 1 0 0 1 23.4 52386 chr15 43531411 43531411 G C rs28756768 TGM5 Nonsynonymous SNV A270G 0.066 0.073 0.058 24 77 28 0.062 17 3 1 2 0 Benign 5.94 52387 chr10 120354109 120354109 G T rs8192521 PRLHR Synonymous SNV G216G 0.002 0 0.02 1 2 0 0.003 6 0 0 0 0 0.006 52388 chr10 134726635 134726635 G A rs1021784434 CFAP46 Nonsynonymous SNV H750Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 52389 chr15 43621947 43621947 A G rs3742969 LCMT2 Synonymous SNV R247R 0.174 0.154 0.163 61 204 59 0.156 48 13 4 3 4 0.45 52390 chr15 43622265 43622265 C A rs3742970 LCMT2 Nonsynonymous SNV R141S 0.109 0.104 0.099 37 128 40 0.095 29 3 2 0 1 0.002 52391 chrX 131234733 131234733 G A rs5930546 FRMD7 Synonymous SNV S23S 0.121 0.099 0.088 47 142 38 0.121 26 33 9 7 11 Benign 8.373 52392 chr1 11850750 11850750 G A rs35737219 MTHFR Nonsynonymous SNV T694M 0.013 0.013 0.01 6 15 5 0.015 3 0 0 0 0 Benign 2.158 52393 chr15 43762196 43762196 C T rs689647 TP53BP1 Nonsynonymous SNV G417S 0.17 0.156 0.156 57 200 60 0.146 46 14 3 3 4 15.65 52394 chr10 104228906 104228906 C T rs138592266 MFSD13A Synonymous SNV T40T 0.008 0.008 0.003 7 9 3 0.018 1 0 0 0 0 14.04 52395 chr9 742252 742252 C T rs762794892 KANK1 Synonymous SNV D992D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.66 52396 chr15 43818052 43818052 G A rs2245715 MAP1A Nonsynonymous SNV D1461N 0.164 0.148 0.143 54 193 57 0.138 42 12 3 4 3 25.1 52397 chr15 44069069 44069069 G C rs2277531 ELL3 Nonsynonymous SNV Q11E 0.152 0.138 0.122 53 179 53 0.136 36 9 3 2 3 9.04 52398 chr9 74360128 74360128 C T rs148738602 CEMIP2 Synonymous SNV L280L 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 10.77 52399 chr15 44093927 44093927 T C rs12702 HYPK Nonsynonymous SNV S97P 0.153 0.138 0.126 53 180 53 0.136 37 9 3 2 3 23.1 52400 chr10 104678350 104678350 G A rs76057237 CNNM2 Nonsynonymous SNV R38Q 0.035 0.034 0.041 11 41 13 0.028 12 1 0 1 0 Benign 20.2 52401 chr15 44102010 44102010 A C rs2228368 MFAP1 Synonymous SNV A330A 0.152 0.138 0.122 54 179 53 0.138 36 9 3 2 3 0.137 52402 chr15 44198049 44198049 A G rs2306674 FRMD5 Synonymous SNV A141A 0.066 0.065 0.075 29 77 25 0.074 22 2 1 1 2 7.999 52403 chr9 75435891 75435891 A G TMC1 Nonsynonymous SNV N633D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 52404 chrX 139038443 139038443 G A rs5955139 CXorf66 Nonsynonymous SNV P233L 0.118 0.12 0.105 29 139 46 0.074 31 35 17 9 9 0.002 52405 chrX 135579867 135579867 G C rs45563032 HTATSF1 Synonymous SNV G8G 0.004 0.005 0.003 3 5 2 0.008 1 1 1 0 1 7.499 52406 chrX 140993770 140993770 C G rs78963072 MAGEC1 Nonsynonymous SNV P194A 0.005 0.005 0 1 6 2 0.003 0 2 0 0 0 0.002 52407 chrX 140993912 140993912 C T rs12558365 MAGEC1 Nonsynonymous SNV S241F 0.04 0.031 0.02 8 47 12 0.021 6 14 3 1 3 2.732 52408 chr1 12837619 12837619 A G rs199506940 PRAMEF12 Synonymous SNV L443L 0.012 0.021 0.058 7 14 8 0.018 17 0 0 0 0 0.609 52409 chrX 142121809 142121811 AGA - rs368252596 SPANXN4 K27Rfs*15 0.081 0.042 0.051 22 95 16 0.056 15 30 4 6 4 52410 chr1 6190315 6190315 C T rs17029184 CHD5 Synonymous SNV A1112A 0.037 0.023 0.037 15 44 9 0.038 11 1 0 1 0 12.52 52411 chr15 45440600 45440600 C T rs145668427 DUOX1 Nonsynonymous SNV R925W 0.011 0.005 0.003 7 13 2 0.018 1 0 0 0 0 34 52412 chrX 144905438 144905438 C T rs7884685 SLITRK2 Synonymous SNV L499L 0.011 0.008 0.01 1 13 3 0.003 3 4 1 1 0 4.903 52413 chr1 6202245 6202245 G A rs2273032 CHD5 Synonymous SNV N793N 0.078 0.063 0.068 38 92 24 0.097 20 5 1 1 1 11.56 52414 chrX 144905744 144905744 T C rs2295336 SLITRK2 Nonsynonymous SNV S601P 0.007 0 0.003 0 8 0 0 1 2 0 0 0 7.14 52415 chrX 138642995 138642995 T C rs1800455 F9 Synonymous SNV V235V 0.005 0.005 0.007 3 6 2 0.008 2 1 1 1 1 Benign/Likely benign 0.055 52416 chrX 14622449 14622449 C T rs111946619 GLRA2 Synonymous SNV T169T 0.049 0.026 0.058 11 57 10 0.028 17 16 3 7 4 12.23 52417 chr15 45554214 45554214 A C rs149922452 SLC28A2 Synonymous SNV R58R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.007 52418 chr10 50373832 50373832 G A rs12257132 TMEM273 Nonsynonymous SNV P83L 0.015 0.008 0.003 3 18 3 0.008 1 0 0 0 0 0.076 52419 chr10 15145569 15145569 A G rs3814171 RPP38 Nonsynonymous SNV I86V 0.026 0.01 0.017 6 31 4 0.015 5 1 0 0 0 0.001 52420 chr10 124380869 124380869 C A rs201533269 DMBT1 Nonsynonymous SNV H1104N 0.077 0.06 0.071 24 90 23 0.062 21 7 0 1 1 0.002 52421 chr10 124380870 124380870 A G rs199679394 DMBT1 Nonsynonymous SNV H1104R 0.077 0.06 0.071 24 90 23 0.062 21 7 0 1 1 0.001 52422 chr10 15146061 15146061 C G rs34040166 RPP38 Nonsynonymous SNV R250G 0.074 0.044 0.058 22 87 17 0.056 17 6 0 0 0 7.749 52423 chr10 124380871 124380871 C T rs200490714 DMBT1 Synonymous SNV H1104H 0.077 0.06 0.071 24 90 23 0.062 21 7 0 1 1 8.797 52424 chr10 1088692 1088692 C T rs118002486 IDI1 Synonymous SNV T53T 0.015 0.018 0.01 7 18 7 0.018 3 0 0 0 0 10.59 52425 chr1 6641057 6641057 C T rs759268001 ZBTB48 Synonymous SNV L130L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.07 52426 chrX 150348610 150348610 C T rs182926090 GPR50 Synonymous SNV N185N 0.005 0.005 0.014 1 6 2 0.003 4 1 1 1 0 Benign 6.597 52427 chrX 152586036 152586036 C A rs782324082 PNMA6F Stop gain E33X 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 6.815 52428 chr1 15768967 15768967 C T rs763210990 CTRC Synonymous SNV A85A 0.004 0 0 0 5 0 0 0 0 0 0 0 13.62 52429 chr10 114925407 114925407 C G rs149031135 TCF7L2 Synonymous SNV P472P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.65 52430 chr10 114925415 114925415 A C rs772831726 TCF7L2 Nonsynonymous SNV N475T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.937 52431 chrX 152027352 152027352 C T rs141089248 NSDHL Synonymous SNV F102F 0.002 0 0.003 2 2 0 0.005 1 0 0 0 1 Benign 16.16 52432 chr1 8403906 8403906 G C rs145801852 SLC45A1 Nonsynonymous SNV V694L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 21.2 52433 chr10 52913038 52913038 C T rs55754654 PRKG1 Synonymous SNV D127D 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 12.96 52434 chrX 154158285 154158285 G C rs1800291 F8 Nonsynonymous SNV D1260E 0.114 0.125 0.085 63 134 48 0.162 25 31 12 9 21 Benign 0.002 52435 chr10 127668854 127668854 G C rs17153882 FANK1 Nonsynonymous SNV R46S 0.032 0.029 0.02 9 38 11 0.023 6 1 0 0 0 11.85 52436 chr10 19454715 19454715 G A rs78786296 MALRD1 Synonymous SNV A602A 0.058 0.073 0.065 16 68 28 0.041 19 2 0 1 1 Benign 1.032 52437 chr10 127705856 127705856 T C rs41303603 ADAM12 Nonsynonymous SNV I905V 0.032 0.021 0.02 8 38 8 0.021 6 2 0 0 0 0.002 52438 chr10 19546660 19546660 G A rs191065615 MALRD1 Synonymous SNV A1013A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.97 52439 chr1 9804691 9804691 C T rs143048460 CLSTN1 Synonymous SNV A322A 0.003 0 0 5 4 0 0.013 0 0 0 0 0 13.68 52440 chr10 115804956 115804956 C A rs141633952 ADRB1 Synonymous SNV P355P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.36 52441 chr10 115805283 115805283 C T ADRB1 Synonymous SNV D464D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 52442 chr1 10705110 10705110 G A rs4845941 CASZ1 Synonymous SNV C1244C 0.006 0.003 0.003 6 7 1 0.015 1 0 0 0 0 11.17 52443 chrX 153587458 153587458 G A rs782080545 FLNA Synonymous SNV P1456P 0.008 0.003 0 4 9 1 0.01 0 3 0 0 0 Likely benign 5.974 52444 chr10 23250826 23250826 G A rs35798093 ARMC3 Nonsynonymous SNV R184Q 0.018 0.029 0.014 4 21 11 0.01 4 1 0 0 0 29.1 52445 chrX 153762563 153762563 T C rs782754619 G6PD Nonsynonymous SNV M242V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 52446 chrX 2832739 2832739 C T rs34494682 ARSD Nonsynonymous SNV R359H 0.111 0.096 0.048 29 130 37 0.074 14 8 2 1 2 0.456 52447 chr1 11017141 11017141 G A rs75810903 C1orf127 Synonymous SNV L100L 0.006 0 0 6 7 0 0.015 0 0 0 0 0 7.069 52448 chr1 3644291 3644291 C A rs115639865 TP73 Synonymous SNV A265A 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 12.35 52449 chr15 56923895 56923895 C A rs61741526 ZNF280D Nonsynonymous SNV G901V 0.014 0.01 0.014 4 17 4 0.01 4 0 0 0 0 25.3 52450 chr9 95237027 95237027 - TCATCA ASPN 0.034 0.023 0 5 40 9 0.013 0 0 0 0 0 52451 chr1 3672048 3672048 G A rs146403079 CCDC27 Nonsynonymous SNV G157E 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.001 52452 chr10 118633635 118633635 G A ENO4 Nonsynonymous SNV E422K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 52453 chr1 11771988 11771988 A G rs17037327 DRAXIN Synonymous SNV L241L 0.127 0.091 0.119 51 149 35 0.131 35 10 5 1 5 3.548 52454 chr9 95797811 95797811 G A rs149091212 FGD3 Synonymous SNV T657T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 9.631 52455 chr10 27353007 27353007 T C rs12359281 ANKRD26 Nonsynonymous SNV I425V 0.026 0.026 0.007 7 31 10 0.018 2 1 0 0 0 Benign 0.009 52456 chr9 96030961 96030961 C T rs55821719 WNK2 Synonymous SNV P1322P 0.009 0.005 0.003 9 10 2 0.023 1 0 0 0 0 Benign 12.26 52457 chr9 96051266 96051266 G A rs143326467 WNK2 Synonymous SNV A1410A 0.009 0.005 0.003 9 10 2 0.023 1 0 0 0 0 Benign 6.594 52458 chr1 6285298 6285298 C T rs181532322 ICMT Nonsynonymous SNV G233S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.3 52459 chr10 27462061 27462061 G A rs41282228 MASTL Synonymous SNV Q713Q 0.025 0.021 0.003 9 29 8 0.023 1 1 0 0 0 Benign 10.22 52460 chr9 96070669 96070669 G A rs61753907 WNK2 Nonsynonymous SNV V2107I 0.009 0.008 0.003 9 10 3 0.023 1 0 0 0 0 22.4 52461 chr15 59910649 59910649 C G rs138620928 GCNT3 Stop gain S71X 0.002 0.003 0.014 6 2 1 0.015 4 0 0 0 0 35 52462 chr15 60644664 60644664 G A rs138364945 ANXA2 Synonymous SNV D218D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.12 52463 chr15 60771438 60771438 - C rs11389291 RORA-AS1 0 0 0.718 0 0 0 0 211 0 0 75 0 52464 chr10 134495442 134495442 G A rs117909412 INPP5A Nonsynonymous SNV R34K 0.017 0.016 0 6 20 6 0.015 0 1 0 0 0 1.526 52465 chr10 64968179 64968179 C T rs200952020 JMJD1C Nonsynonymous SNV V865M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 52466 chrX 34150150 34150150 A G rs190385471 FAM47A Synonymous SNV S82S 0.024 0.052 0.014 12 28 20 0.031 4 6 6 0 5 Benign/Likely benign 0.005 52467 chrX 37518734 37518734 G A rs35042954 LANCL3 Synonymous SNV S239S 0.008 0 0 0 9 0 0 0 3 0 0 0 7.876 52468 chr9 96437261 96437261 G A rs34854229 PHF2 Synonymous SNV S893S 0.021 0.01 0 10 25 4 0.026 0 0 0 0 0 Benign 10.03 52469 chr10 134663933 134663933 A G rs151247898 CFAP46 Nonsynonymous SNV W1923R 0.039 0.034 0.014 20 46 13 0.051 4 6 1 0 2 24.3 52470 chr10 134671148 134671148 C T rs144154094 CFAP46 Nonsynonymous SNV M1840I 0.042 0.034 0.031 20 49 13 0.051 9 6 1 0 2 0.514 52471 chr10 134671150 134671150 T C rs148181302 CFAP46 Nonsynonymous SNV M1840V 0.042 0.034 0.031 20 49 13 0.051 9 6 1 0 2 0.001 52472 chr1 12061598 12061598 C T rs41278632 MFN2 Synonymous SNV G319G 0.007 0 0 6 8 0 0.015 0 0 0 0 0 Benign 16.14 52473 chr10 29747308 29747308 G A rs549909221 SVIL-AS1 0.021 0.008 0 1 25 3 0.003 0 0 0 0 0 0.847 52474 chr10 134671154 134671154 G A rs189775198 CFAP46 Synonymous SNV G1838G 0.042 0.034 0.031 20 49 13 0.051 9 6 1 0 2 7.728 52475 chr10 29747313 29747313 T - rs5784138 SVIL-AS1 0.113 0.12 0.119 55 133 46 0.141 35 6 3 3 8 52476 chr10 134674286 134674286 C G rs78376398 CFAP46 Synonymous SNV T1697T 0.019 0.029 0.014 10 22 11 0.026 4 0 0 0 0 1.473 52477 chr10 29747315 29747315 C T rs2368409 SVIL-AS1 0.113 0.12 0.119 55 133 46 0.141 35 6 3 3 8 6.61 52478 chrX 39932808 39932808 G A rs144606152 BCOR Synonymous SNV H597H 0.082 0.031 0.034 13 96 12 0.033 10 29 3 1 2 Benign 0.985 52479 chr10 134680921 134680921 A G rs141926275 CFAP46 Synonymous SNV P1567P 0.043 0.034 0.02 21 51 13 0.054 6 6 1 0 2 0.012 52480 chr10 696838 696838 C T rs577637683 PRR26 Nonsynonymous SNV R111W 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 52481 chr10 134680995 134680995 C T rs150661681 CFAP46 Nonsynonymous SNV A1543T 0.041 0.034 0.027 20 48 13 0.051 8 6 1 0 2 23.3 52482 chr10 29754644 29754644 T C rs7921306 SVIL Nonsynonymous SNV I1579V 0.113 0.117 0.119 55 133 45 0.141 35 6 3 3 8 18.03 52483 chr1 12198362 12198362 C A rs144498730 TNFRSF8 Nonsynonymous SNV T359N 0.013 0.005 0.017 4 15 2 0.01 5 0 0 0 0 3.315 52484 chr10 134682802 134682802 C T rs7084629 CFAP46 Nonsynonymous SNV C1529Y 0.054 0.039 0.044 29 63 15 0.074 13 6 1 0 2 0.111 52485 chr10 134682833 134682833 C T rs149742494 CFAP46 Nonsynonymous SNV A1519T 0.043 0.034 0.031 20 50 13 0.051 9 6 1 0 2 3.209 52486 chrX 34149267 34149267 C A rs1811716 FAM47A Nonsynonymous SNV A377S 0.098 0.102 0.112 36 115 39 0.092 33 30 11 12 8 0.002 52487 chr10 134682864 134682864 C T rs144551659 CFAP46 Synonymous SNV A1508A 0.04 0.034 0.017 20 47 13 0.051 5 6 1 0 2 13.87 52488 chrX 44094685 44094685 G T rs2208592 EFHC2 Nonsynonymous SNV S430Y 0.044 0.044 0.092 28 52 17 0.072 27 6 3 8 7 0.001 52489 chr10 134693092 134693092 G A rs139343897 CFAP46 Synonymous SNV S1281S 0.043 0.034 0.034 19 51 13 0.049 10 6 1 0 2 7.712 52490 chr10 134693118 134693118 C G rs149909284 CFAP46 Nonsynonymous SNV E1273Q 0.043 0.034 0.031 19 50 13 0.049 9 6 1 0 2 0.01 52491 chr10 124036328 124036328 G A rs11200524 BTBD16 Nonsynonymous SNV R15Q 0.006 0.01 0.01 3 7 4 0.008 3 0 0 0 0 10.75 52492 chr10 134694391 134694391 A G rs145022957 CFAP46 Nonsynonymous SNV V1258A 0.042 0.034 0.031 20 49 13 0.051 9 6 1 0 2 0.001 52493 chr15 64592603 64592603 T C rs35105746 CSNK1G1 Synonymous SNV S32S 0 0 0.01 0 0 0 0 3 0 0 0 0 0.033 52494 chr10 134694526 134694526 A G rs148582169 CFAP46 Nonsynonymous SNV M1213T 0.043 0.034 0.031 20 50 13 0.051 9 6 1 0 2 0.002 52495 chr10 124066731 124066731 T G rs7100442 BTBD16 Synonymous SNV L274L 0.009 0.01 0.014 4 11 4 0.01 4 0 0 0 0 1.232 52496 chr9 98231084 98231084 T C rs2227970 PTCH1 Synonymous SNV S681S 0.021 0.016 0.02 5 25 6 0.013 6 0 0 0 0 Benign 6.795 52497 chr10 134698626 134698626 T C rs73393250 CFAP46 Nonsynonymous SNV N1203S 0.054 0.039 0.041 29 63 15 0.074 12 6 1 0 2 0.009 52498 chr10 124094467 124094467 T C rs10887135 BTBD16 Synonymous SNV D413D 0.009 0.01 0.014 3 10 4 0.008 4 0 0 0 0 0.036 52499 chr10 3143667 3143667 C T rs11542777 PFKP Synonymous SNV I98I 0.025 0.042 0.007 6 29 16 0.015 2 0 2 0 0 13.27 52500 chrX 100105195 100105195 C T rs34688635 NOX1 Nonsynonymous SNV D323N 0.038 0.057 0.003 6 45 22 0.015 1 10 6 0 1 25.1 52501 chrX 35988996 35988996 T C rs6632446 CFAP47 Synonymous SNV L642L 0.081 0.047 0.112 30 95 18 0.077 33 24 3 11 7 0.035 52502 chr1 20224152 20224152 G A rs61769077 OTUD3 Synonymous SNV T201T 0.083 0.073 0.037 25 98 28 0.064 11 3 1 0 0 16.82 52503 chrX 35993454 35993454 C T rs6632450 CFAP47 Synonymous SNV D815D 0.082 0.049 0.122 35 96 19 0.09 36 24 3 13 9 0.349 52504 chrX 36007614 36007614 T G rs6629027 CFAP47 Nonsynonymous SNV F964L 0.082 0.049 0.139 35 96 19 0.09 41 24 3 15 9 0.002 52505 chr10 134740088 134740088 T A rs118132336 CFAP46 Nonsynonymous SNV N350I 0.101 0.073 0.088 45 119 28 0.115 26 10 1 1 2 0.091 52506 chrX 36057261 36057261 A G rs6632464 CFAP47 Synonymous SNV V1324V 0.082 0.049 0.133 35 96 19 0.09 39 24 3 14 9 0.101 52507 chrX 36371719 36371719 T A rs41309695 CFAP47 Nonsynonymous SNV F2925Y 0.069 0.042 0.109 22 81 16 0.056 32 21 3 11 6 0.002 52508 chr1 20656801 20656801 C G VWA5B1 Nonsynonymous SNV F461L 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 26.6 52509 chrX 36385156 36385156 A G rs6632593 CFAP47 Synonymous SNV E3033E 0.071 0.055 0.109 15 83 21 0.038 32 22 5 11 4 0.011 52510 chrX 36403036 36403036 A G rs6527569 CFAP47 Nonsynonymous SNV H3160R 0.145 0.125 0.18 45 170 48 0.115 53 43 13 20 12 0.001 52511 chrX 100747453 100747453 G A rs73563076 ARMCX4 Nonsynonymous SNV A1293T 0.017 0.057 0.034 9 20 22 0.023 10 2 8 3 3 0.031 52512 chrX 100747694 100747694 G C rs61736018 ARMCX4 Nonsynonymous SNV S1373T 0.019 0.06 0.041 9 22 23 0.023 12 3 8 4 3 18.91 52513 chr10 3208567 3208567 - GCACGCTAGGGAAGAGAGAGGAATG rs148472807 PITRM1 Stop gain Q59Pfs*7 0.003 0.005 0.02 0 3 2 0 6 0 0 0 0 52514 chrX 38144822 38144822 C T rs12688514 RPGR Nonsynonymous SNV V1144I 0.067 0.06 0.041 25 79 23 0.064 12 23 7 5 6 Benign 23.8 52515 chrX 38144856 38144856 G A rs12687163 RPGR Synonymous SNV N1132N 0.067 0.06 0.041 25 79 23 0.064 12 23 7 5 6 Benign 1.933 52516 chrX 101911337 101911337 C T rs2073116 GPRASP1 Synonymous SNV S832S 0.008 0.021 0.024 7 9 8 0.018 7 0 2 2 2 8.515 52517 chr15 68583382 68583382 C T rs34021140 FEM1B Synonymous SNV A562A 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 13.73 52518 chrX 101970316 101970316 A C rs6616421 ARMCX5-GPRASP2, GPRASP2 Nonsynonymous SNV R173S 0.008 0.021 0.024 7 9 8 0.018 7 0 2 2 2 0.227 52519 chrX 102529190 102529190 C G rs6621640 TCEAL5 Nonsynonymous SNV R101P 0.014 0.031 0.02 4 17 12 0.01 6 2 4 3 0 17.66 52520 chrX 66766356 66766356 - GGC rs760580125 AR G473_E474insG 0.031 0.036 0.15 28 36 14 0.072 44 15 7 16 13 52521 chrX 46433880 46433880 G A rs773697310 CHST7 Nonsynonymous SNV A172T 0.003 0 0 13 3 0 0.033 0 0 0 0 5 10.45 52522 chrX 103294818 103294818 T C rs782616912 H2BW2 Nonsynonymous SNV I92T 0.005 0.005 0 5 6 2 0.013 0 1 0 0 1 Likely benign 22.5 52523 chr10 126136013 126136013 G A rs574415739 NKX1-2 Synonymous SNV Y306Y 0.005 0 0 0 6 0 0 0 0 0 0 0 10.83 52524 chr10 44052382 44052382 C T rs753462647 ZNF239 Synonymous SNV K382K 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 15.06 52525 chr10 135215667 135215667 C T rs144012069 MTG1 Synonymous SNV P196P 0.026 0.026 0.027 11 31 10 0.028 8 0 0 0 0 Benign 14.08 52526 chrX 106096795 106096795 A G rs147370648 TBC1D8B Nonsynonymous SNV N723S 0.012 0.005 0 2 14 2 0.005 0 3 0 0 1 8.236 52527 chr10 126694170 126694170 C T rs41303611 CTBP2 Nonsynonymous SNV G70R 0.02 0.026 0.031 10 23 10 0.026 9 0 1 0 0 1.914 52528 chrX 107084075 107084075 A C rs2236083 MID2 Synonymous SNV S60S 0.071 0.06 0.078 15 83 23 0.038 23 22 5 8 3 0.047 52529 chr1 11840031 11840031 C T C1orf167 Stop gain R942X 0.007 0 0 0 8 0 0 0 0 0 0 0 36 52530 chr1 16459832 16459832 C T rs55655135 EPHA2 Synonymous SNV L578L 0.009 0.016 0.007 3 11 6 0.008 2 0 0 0 0 Benign 5.673 52531 chr10 127458940 127458940 G A rs149458277 MMP21 Synonymous SNV I400I 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 12.37 52532 chr10 15175066 15175066 G A rs35558698 NMT2 Synonymous SNV P196P 0.009 0.013 0 8 10 5 0.021 0 0 0 0 1 10.38 52533 chr1 17303255 17303255 C A MFAP2 Nonsynonymous SNV Q62H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 52534 chrX 113965735 113965735 G C rs6318 HTR2C Nonsynonymous SNV C23S 0.141 0.135 0.129 37 166 52 0.095 38 43 14 13 9 Benign 4.349 52535 chr10 46122051 46122051 C T rs80042909 ZFAND4 Nonsynonymous SNV G407E 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 21.8 52536 chr15 74220084 74220084 G T rs41435250 LOXL1 Synonymous SNV A320A 0.032 0.036 0.031 10 37 14 0.026 9 0 0 1 0 3.528 52537 chrX 54781530 54781530 C G rs17316491 ITIH6 Nonsynonymous SNV W1041S 0.102 0.081 0.122 33 120 31 0.085 36 32 9 14 9 18.79 52538 chr15 74836475 74836475 A G rs150630579 ARID3B Synonymous SNV L66L 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 0.014 52539 chr1 12382751 12382751 C T rs35102018 VPS13D Synonymous SNV R2621R 0.015 0.01 0.01 3 18 4 0.008 3 0 0 0 0 17.11 52540 chrX 54841737 54841737 G A rs11555927 MAGED2 Synonymous SNV A481A 0.131 0.099 0.146 43 154 38 0.11 43 40 9 13 11 12.53 52541 chr10 46970751 46970751 G C rs575596196 LOC102724488 Nonsynonymous SNV A21G 0.02 0.005 0.003 4 23 2 0.01 1 0 0 0 0 10.25 52542 chr1 12406664 12406664 T C rs41279460 VPS13D Synonymous SNV I2983I 0.02 0.018 0.014 7 24 7 0.018 4 0 0 0 0 12.72 52543 chr1 17914057 17914057 G A rs34417109 ARHGEF10L Nonsynonymous SNV S47N 0.056 0.034 0.031 25 66 13 0.064 9 2 0 1 0 10.27 52544 chrX 55513567 55513567 T C USP51 Synonymous SNV V602V 0.001 0 0 3 1 0 0.008 0 0 0 0 1 0.094 52545 chr1 17949562 17949562 C T rs55693639 ARHGEF10L Synonymous SNV F142F 0.072 0.044 0.075 43 84 17 0.11 22 2 0 3 2 13.76 52546 chr1 12836101 12836101 C A rs41303871 PRAMEF12 Nonsynonymous SNV L235I 0.027 0.018 0.01 6 32 7 0.015 3 0 0 0 0 23.8 52547 chr10 46999208 46999208 C T rs201151081 GPRIN2 Nonsynonymous SNV R110W 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 19.04 52548 chrX 118221932 118221932 C T rs780807426 KIAA1210 Synonymous SNV P1087P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 52549 chr10 75013923 75013923 G A rs530006768 DNAJC9-AS1 0.003 0.008 0 0 4 3 0 0 0 0 0 0 3.299 52550 chrX 69672821 69672821 T C rs139888124 DLG3-AS1 0.014 0.005 0.024 12 17 2 0.031 7 3 0 1 3 7.115 52551 chr15 77938853 77938853 G A rs72546308 LINGO1-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 4.172 52552 chr10 133109602 133109602 G A rs148913526 TCERG1L Synonymous SNV S99S 0.1 0.135 0.129 37 117 52 0.095 38 30 16 8 14 9.759 52553 chr10 133786586 133786586 T C rs1050704 BNIP3 Synonymous SNV R143R 0.15 0.138 0.139 54 176 53 0.138 41 15 2 2 4 0.782 52554 chrX 70361151 70361151 - CAGCAACACCAG rs398124200 MED12 Q2119_Q2120insHQQQ 0.038 0.042 0.037 19 45 16 0.049 11 11 6 4 6 52555 chrX 70889451 70889451 C T rs190105368 LOC101059915 Nonsynonymous SNV R427C 0.009 0.008 0 2 11 3 0.005 0 1 1 0 1 3.878 52556 chr1 15642912 15642912 T C rs10927771 FHAD1 Synonymous SNV A403A 0.011 0.01 0 7 13 4 0.018 0 0 0 0 0 1.771 52557 chr10 101993033 101993033 C T rs35490714 CWF19L1 Nonsynonymous SNV R386H 0.038 0.031 0.024 10 45 12 0.026 7 1 0 0 0 25 52558 chr10 76429980 76429980 A T ADK Stop gain R268X 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 19.17 52559 chrX 71350133 71350133 T G rs6624595 RTL5 Nonsynonymous SNV S420R 0.047 0.029 0.058 16 55 11 0.041 17 12 2 6 3 2.946 52560 chr10 76780454 76780456 ACC - KAT6B H137del 0 0.003 0 0 0 1 0 0 0 0 0 0 52561 chrX 128633717 128633717 T C rs61752969 SMARCA1 Synonymous SNV Q423Q 0.028 0.008 0.007 6 33 3 0.015 2 10 0 0 2 0.224 52562 chr10 76855421 76855421 G A rs3740316 DUSP13 Synonymous SNV I152I 0.176 0.203 0.18 80 207 78 0.205 53 20 6 5 8 14.02 52563 chr1 15679393 15679393 G A rs35368057 FHAD1 Synonymous SNV A803A 0.009 0.016 0.003 5 11 6 0.013 1 0 0 0 0 5.242 52564 chr15 78880752 78880752 G A rs2229961 CHRNA5 Nonsynonymous SNV V134I 0.011 0.008 0.017 0 13 3 0 5 0 0 0 0 33 52565 chrX 129054446 129054446 G A rs35183830 UTP14A Nonsynonymous SNV V204M 0.024 0.013 0.058 10 28 5 0.026 17 7 1 7 3 7.673 52566 chr1 19201928 19201928 C T rs2230709 ALDH4A1 Nonsynonymous SNV V419I 0.103 0.083 0.061 51 121 32 0.131 18 8 0 1 5 Likely benign 18.56 52567 chr1 19203961 19203961 C T rs41310410 ALDH4A1 Synonymous SNV P302P 0.056 0.044 0.041 23 66 17 0.059 12 2 0 1 0 Benign 20.5 52568 chr10 49658842 49658842 C G rs34940331 ARHGAP22 Nonsynonymous SNV G354R 0.014 0.026 0.034 3 17 10 0.008 10 0 0 0 0 2.781 52569 chr15 79298523 79298523 G A rs894780 RASGRF1 Synonymous SNV L707L 0.143 0.146 0.133 39 168 56 0.1 39 16 5 2 1 7.433 52570 chr1 19635011 19635011 C T rs1043657 AKR7A2 Nonsynonymous SNV A142T 0.105 0.115 0.116 41 123 44 0.105 34 6 9 1 0 23.9 52571 chr1 16273489 16273489 T A rs145800378 ZBTB17 Nonsynonymous SNV S23C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27 52572 chr1 19652874 19652874 G A rs41264079 SLC66A1 Nonsynonymous SNV G173D 0.108 0.122 0.136 60 127 47 0.154 40 8 5 1 6 8.072 52573 chr15 80215300 80215300 T C rs2733102 ST20-AS1 0 0 0.408 0 0 0 0 120 0 0 24 0 0.032 52574 chr10 102740714 102740714 G A rs761371562 SEMA4G Nonsynonymous SNV A535T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 52575 chrX 131762658 131762658 C T rs145272508 HS6ST2 Nonsynonymous SNV E471K 0.015 0.008 0.007 4 18 3 0.01 2 5 0 1 1 17.42 52576 chr15 81591816 81591816 A G rs34460207 IL16 Nonsynonymous SNV I16V 0.003 0.01 0.014 2 4 4 0.005 4 0 0 0 0 23.4 52577 chr10 50121526 50121526 C T rs148385977 LRRC18 Synonymous SNV K225K 0.014 0.016 0.003 12 16 6 0.031 1 0 0 0 0 5.347 52578 chr1 20501581 20501582 CG - rs762935509 PLA2G2C R33Kfs*18 0 0 0 1 0 0 0.003 0 0 0 0 0 52579 chr1 20501584 20501584 C A rs774288154 PLA2G2C Nonsynonymous SNV G32V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 52580 chrX 135314249 135314249 C T rs55819163 MAP7D3 Synonymous SNV E254E 0.048 0.039 0.041 20 56 15 0.051 12 12 3 5 5 9.059 52581 chr1 20680271 20680271 G A rs372798836 VWA5B1 Nonsynonymous SNV G1055R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 52582 chr10 135003139 135003139 C T rs193150293 KNDC1 Synonymous SNV D493D 0.004 0 0 0 5 0 0 0 0 0 0 0 16.02 52583 chr10 50531214 50531214 C G rs4838383 C10orf71 Nonsynonymous SNV N208K 0.04 0.021 0.024 23 47 8 0.059 7 0 0 0 0 2.241 52584 chr1 21267993 21267993 G C rs35176330 EIF4G3 Nonsynonymous SNV P496A 0.032 0.057 0.031 22 38 22 0.056 9 0 0 0 2 1.713 52585 chr10 135086766 135086766 G A rs45451297 ADAM8 Nonsynonymous SNV R150W 0.053 0.042 0.034 21 62 16 0.054 10 2 0 0 0 12.31 52586 chr15 85188839 85188839 C T rs11073619 WDR73 Nonsynonymous SNV R249H 0.064 0.063 0.065 22 75 24 0.056 19 2 0 0 0 12.03 52587 chr10 871745 871745 C T rs41289275 LARP4B Synonymous SNV A397A 0.025 0.036 0.02 11 29 14 0.028 6 0 0 0 1 17.57 52588 chr10 100016700 100016700 C T rs142861581 LOXL4 Nonsynonymous SNV R422H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 52589 chrX 140993989 140993989 T C rs77648555 MAGEC1 Nonsynonymous SNV S267P 0.02 0.021 0.031 6 24 8 0.015 9 10 2 3 2 0.001 52590 chr10 50534395 50534395 G A rs41301109 C10orf71 Nonsynonymous SNV A1269T 0.036 0.016 0.02 21 42 6 0.054 6 0 0 0 0 5.818 52591 chr1 22154387 22154387 G A rs11552570 HSPG2 Synonymous SNV S4187S 0.048 0.052 0.037 27 56 20 0.069 11 2 1 0 1 Benign/Likely benign 14.85 52592 chr10 50534646 50534646 C T rs12415544 C10orf71 Synonymous SNV S1352S 0.037 0.016 0.02 21 44 6 0.054 6 0 0 0 0 13.67 52593 chr15 85402610 85402610 G A rs34122391 ALPK3 Synonymous SNV E1520E 0.033 0.029 0.027 18 39 11 0.046 8 3 0 0 1 Benign 11.04 52594 chr1 22157545 22157545 G A rs112494360 HSPG2 Synonymous SNV Y3868Y 0.048 0.052 0.037 26 56 20 0.067 11 2 1 0 0 Benign/Likely benign 9.731 52595 chr1 22158157 22158157 A G rs2229488 HSPG2 Synonymous SNV N3781N 0.069 0.07 0.058 36 81 27 0.092 17 2 1 1 1 Benign/Likely benign 1.001 52596 chr1 22159774 22159774 G A rs2229486 HSPG2 Synonymous SNV P3695P 0.078 0.083 0.061 39 91 32 0.1 18 3 1 1 1 Benign 16.58 52597 chr1 22160043 22160043 C T rs2229493 HSPG2 Nonsynonymous SNV R3633Q 0.078 0.083 0.061 39 91 32 0.1 18 3 1 1 1 Benign 4.684 52598 chr15 85657120 85657120 A G rs62019510 PDE8A Nonsynonymous SNV N355S 0.038 0.021 0.037 9 45 8 0.023 11 1 0 0 1 11.6 52599 chr1 22163390 22163390 G A rs35444472 HSPG2 Synonymous SNV H3421H 0.076 0.083 0.061 39 89 32 0.1 18 3 1 1 1 Benign 10.1 52600 chr1 22167605 22167605 C T rs2228349 HSPG2 Nonsynonymous SNV A3169T 0.078 0.083 0.061 40 91 32 0.103 18 3 1 1 2 Benign 13.43 52601 chr1 22168801 22168801 T C rs2229491 HSPG2 Nonsynonymous SNV S2996G 0.079 0.083 0.061 40 93 32 0.103 18 4 1 1 2 Benign 0.004 52602 chr10 105971911 105971911 C T rs117768807 CFAP43 Nonsynonymous SNV V197M 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 Benign 24 52603 chr1 22168845 22168845 A T rs2229489 HSPG2 Nonsynonymous SNV L2981H 0.061 0.065 0.044 30 72 25 0.077 13 3 1 0 0 Benign 7.972 52604 chr10 90353833 90353833 C T rs41298235 LIPJ Synonymous SNV S87S 0.022 0.023 0.017 5 26 9 0.013 5 1 0 0 0 13.85 52605 chr10 106022830 106022832 GAG - rs113200905 GSTO1 E127del 0.027 0.01 0.037 12 32 4 0.031 11 0 0 0 0 52606 chr10 90354423 90354423 G C rs74777687 LIPJ 0.022 0.023 0.017 5 26 9 0.013 5 1 0 0 0 23.8 52607 chr1 22174518 22174518 G T rs12737091 HSPG2 Synonymous SNV V2603V 0.061 0.065 0.044 30 72 25 0.077 13 3 1 0 0 Benign 8.734 52608 chr10 106027059 106027059 G A rs11509438 GSTO1 Nonsynonymous SNV E175K 0.039 0.021 0.037 16 46 8 0.041 11 0 0 0 0 10.95 52609 chr1 22179244 22179244 C T rs35669711 HSPG2 Nonsynonymous SNV G2226S 0.061 0.065 0.041 30 72 25 0.077 12 3 1 0 0 Benign 12.31 52610 chr10 90354430 90354430 T C rs76589440 LIPJ Synonymous SNV D112D 0.022 0.023 0.017 5 26 9 0.013 5 1 0 0 0 1.411 52611 chr10 90356555 90356555 A T rs41299155 LIPJ Synonymous SNV S195S 0.022 0.023 0.007 5 26 9 0.013 2 1 0 0 0 0.005 52612 chr1 22179451 22179451 C T rs34443576 HSPG2 Synonymous SNV T2185T 0.061 0.065 0.041 31 72 25 0.079 12 3 1 0 1 Benign 17.79 52613 chr1 22180723 22180723 C T rs12742444 HSPG2 Synonymous SNV V2135V 0.061 0.065 0.044 30 72 25 0.077 13 3 1 0 0 Benign 13.22 52614 chr1 22181895 22181895 C T rs2229475 HSPG2 Nonsynonymous SNV V1968I 0.061 0.065 0.044 31 72 25 0.079 13 3 1 0 1 Benign 24.3 52615 chrX 150911010 150911010 C T CNGA2 Nonsynonymous SNV A162V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 52616 chr15 86124616 86124616 A G rs61731243 AKAP13 Nonsynonymous SNV E1106G 0.037 0.052 0.027 8 43 20 0.021 8 1 0 0 0 16.55 52617 chr1 27671849 27671849 G A rs759044527 SYTL1 Synonymous SNV S8S 0.009 0.005 0 7 10 2 0.018 0 0 0 0 0 3.538 52618 chrX 151131056 151131056 G A rs200914254 GABRE Synonymous SNV N134N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.52 52619 chr10 16942704 16942704 T C rs757561186 CUBN Nonsynonymous SNV N2777S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 52620 chr10 114045861 114045861 C T rs530455117 TECTB Synonymous SNV H100H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.74 52621 chr1 19684006 19684006 G C rs3748755 CAPZB Synonymous SNV G127G 0.008 0.005 0.01 0 9 2 0 3 0 0 0 0 7.829 52622 chr1 19923313 19923313 T A rs4912130 LOC105378614 0.003 0 0.272 2 4 0 0.005 80 2 0 12 1 6.366 52623 chrX 152158979 152158979 T C rs56350208 PNMA5 Synonymous SNV P388P 0.098 0.125 0.082 34 115 48 0.087 24 23 14 7 10 0.106 52624 chr10 11505268 11505268 G A rs779869414 USP6NL Synonymous SNV N570N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.06 52625 chr1 23280076 23280076 G A rs114648887 LACTBL1 Synonymous SNV D400D 0.046 0.055 0.041 15 54 21 0.038 12 2 1 0 1 11.47 52626 chr15 89169484 89169484 C T rs3743477 AEN Nonsynonymous SNV P15L 0.046 0.034 0.051 19 54 13 0.049 15 0 0 0 0 16.37 52627 chr10 54531226 54531226 C T rs1800451 MBL2 Nonsynonymous SNV G57E 0.018 0.018 0.024 10 21 7 0.026 7 0 0 0 0 Benign/Likely benign 27.3 52628 chr1 23280491 23280491 G T rs138431960 LACTBL1 Stop gain S262X 0.022 0.042 0.034 8 26 16 0.021 10 0 1 0 0 41 52629 chrX 152686990 152686990 G C rs782668910 ZFP92 Synonymous SNV A385A 0.004 0.003 0.007 2 5 1 0.005 2 0 0 1 1 4.277 52630 chr1 28880160 28880160 C G rs371541706 TRNAU1AP Synonymous SNV P12P 0.009 0.008 0 7 10 3 0.018 0 0 0 0 0 10.26 52631 chrX 152710845 152710845 A T rs201756523 TREX2 Nonsynonymous SNV L15Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 52632 chr10 3183883 3183883 G A rs74623103 PITRM1-AS1 0.022 0.016 0.02 5 26 6 0.013 6 0 0 0 0 0.863 52633 chr10 102896508 102896508 G A rs373379278 TLX1 Synonymous SNV Q277Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 52634 chr10 103298099 103298099 G T rs4151060 BTRC Nonsynonymous SNV A517S 0.016 0.021 0.027 17 19 8 0.044 8 0 0 0 0 21.4 52635 chr10 103825454 103825454 C T rs281865107 HPS6 Stop gain Q75X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 34 52636 chr10 17363315 17363315 T C rs61734560 ST8SIA6 Synonymous SNV L253L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.558 52637 chr10 93221077 93221077 G A rs7920604 HECTD2 Synonymous SNV T158T 0.085 0.081 0.058 31 100 31 0.079 17 5 1 1 2 13 52638 chrX 153176284 153176284 C T rs62620965 ARHGAP4 Synonymous SNV E562E 0.02 0.031 0.041 4 23 12 0.01 12 7 3 5 0 10.69 52639 chr15 89442711 89442711 G A rs775984272 MFGE8 Nonsynonymous SNV T308M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.94 52640 chr10 5929984 5929984 G C ANKRD16 Nonsynonymous SNV Q121E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 52641 chr10 116059095 116059095 C T rs41314501 AFAP1L2 Synonymous SNV K596K 0.009 0.005 0.007 5 10 2 0.013 2 1 0 0 0 15.97 52642 chr10 105209413 105209413 C T rs2232659 CALHM2 Nonsynonymous SNV A96T 0.021 0.031 0.014 9 25 12 0.023 4 0 0 0 0 18.39 52643 chr1 22182115 22182115 G A rs2229474 HSPG2 Nonsynonymous SNV R1920C 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 27.6 52644 chrX 153689893 153689893 G A rs35285799 PLXNA3 Nonsynonymous SNV R350Q 0.017 0.026 0.037 7 20 10 0.018 11 5 2 4 2 22.4 52645 chr10 96025697 96025697 G A rs41291134 PLCE1 Synonymous SNV S1113S 0.048 0.039 0.034 27 56 15 0.069 10 1 0 0 4 Benign/Likely benign 8.466 52646 chr10 61832131 61832131 A G rs11815168 ANK3 Synonymous SNV H2836H 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Benign/Likely benign 0.012 52647 chr10 61833062 61833062 C G ANK3 Nonsynonymous SNV G2526A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 52648 chr10 11784633 11784633 C T rs11558855 ECHDC3 Nonsynonymous SNV R20C 0.043 0.039 0.051 26 51 15 0.067 15 6 2 0 6 22.6 52649 chrX 153695778 153695778 G A rs150943884 PLXNA3 Synonymous SNV V1135V 0 0.008 0 0 0 3 0 0 0 1 0 0 Benign 3.231 52650 chrX 153696805 153696805 C A rs199905351 PLXNA3 Synonymous SNV R1375R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.23 52651 chr10 63829539 63829539 C T rs76296217 ARID5B Synonymous SNV T151T 0.041 0.031 0.044 15 48 12 0.038 13 1 0 1 1 13.61 52652 chr15 90393949 90393949 - T rs11435035 MIR5094 0 0 0.497 0 0 0 0 146 0 0 22 0 52653 chr1 35476602 35476602 C T rs144450277 ZMYM6 Synonymous SNV S366S 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 16.26 52654 chrX 18221951 18221951 C T rs755322755 BEND2 Nonsynonymous SNV A193T 0.006 0.01 0 4 7 4 0.01 0 1 1 0 1 19.36 52655 chr1 26162313 26162313 T G rs34449716 AUNIP Nonsynonymous SNV K82T 0.032 0.031 0.037 15 37 12 0.038 11 1 0 0 1 7.871 52656 chr10 1065710 1065710 C T rs1044261 IDI2 Stop gain W144X 0.07 0.063 0.075 20 82 24 0.051 22 3 0 3 0 37 52657 chr15 91184370 91184370 T C rs377546701 CRTC3 Synonymous SNV S530S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.332 52658 chrX 21863371 21863371 G A rs146730876 MBTPS2 Nonsynonymous SNV A103T 0.003 0.005 0 2 4 2 0.005 0 1 0 0 0 Benign 13.01 52659 chr10 98133462 98133462 G A rs61740993 TLL2 Synonymous SNV C851C 0.018 0.013 0.01 12 21 5 0.031 3 0 0 0 0 8.356 52660 chrX 21900620 21900620 A G rs151074204 MBTPS2 Synonymous SNV Q469Q 0.003 0.005 0 2 4 2 0.005 0 1 0 0 0 Benign 3.736 52661 chr15 91455455 91455455 C T rs140404658 MAN2A2 Synonymous SNV A764A 0.007 0.005 0.02 2 8 2 0.005 6 0 0 0 0 16.62 52662 chr1 23519593 23519593 G A rs147605856 HTR1D Nonsynonymous SNV R374W 0.009 0.01 0.007 0 11 4 0 2 0 0 0 0 24 52663 chr10 112667507 112667507 G A rs866047769 BBIP1 Nonsynonymous SNV S42F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 52664 chr10 70716061 70716061 C T rs17556220 DDX21 Nonsynonymous SNV T27I 0.012 0.013 0.014 10 14 5 0.026 4 0 0 0 0 14.16 52665 chr15 95398666 95398666 G - rs3840026 LOC440311 0 0 0.612 0 0 0 0 180 0 0 65 0 52666 chr15 97970963 97970963 T C rs4128671 LINC02254 0 0 0.391 0 0 0 0 115 0 0 24 0 1.441 52667 chr10 99422724 99422724 G A rs61760983 PI4K2A Nonsynonymous SNV R328Q 0.003 0.01 0.027 1 4 4 0.003 8 0 0 0 0 24.1 52668 chr10 71025447 71025447 C T rs138235256 HKDC1 Nonsynonymous SNV R827W 0.009 0.01 0.007 5 11 4 0.013 2 0 0 0 0 35 52669 chr10 115374606 115374606 T C rs138179101 NRAP Nonsynonymous SNV I1024V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.345 52670 chr15 99459278 99459278 C T rs45506098 IGF1R Synonymous SNV N638N 0.02 0.021 0.017 4 23 8 0.01 5 0 0 0 0 Benign 17.62 52671 chr15 99459314 99459314 G T rs56294552 IGF1R Synonymous SNV R650R 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 Benign/Likely benign 11.9 52672 chr1 26670781 26670781 G A rs150982279 CRYBG2 Nonsynonymous SNV R790C 0.022 0.031 0.041 19 26 12 0.049 12 0 0 0 1 22.1 52673 chrX 34149658 34149693 ATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG - rs772223766 FAM47A L235_H246del 0.001 0.005 0.007 0 1 2 0 2 0 0 1 0 52674 chr10 99968670 99968670 A G rs34530959 R3HCC1L Nonsynonymous SNV T267A 0.013 0.018 0.007 0 15 7 0 2 0 0 0 0 0.002 52675 chr15 99798405 99798405 C T rs34471005 HSP90B2P 0 0 0.068 0 0 0 0 20 0 0 2 0 5.529 52676 chr10 49440168 49440168 C T rs11816450 FRMPD2 Synonymous SNV A362A 0.013 0.01 0.003 7 15 4 0.018 1 1 0 0 1 16.38 52677 chr10 115413821 115413821 C T rs141144397 NRAP Nonsynonymous SNV E142K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.38 52678 chr10 49984825 49984833 GGCCCTGGC - rs574411066 WDFY4 G965_P968delinsA 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 52679 chr10 71690231 71690231 G A rs58566350 COL13A1 Nonsynonymous SNV V468M 0.005 0.016 0 4 6 6 0.01 0 0 0 0 0 1.841 52680 chr1 27683991 27683991 C T rs764513259 MAP3K6 Nonsynonymous SNV R1045Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 52681 chr1 40961645 40961645 G A rs148293066 ZFP69 Nonsynonymous SNV E500K 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 26.1 52682 chr10 71695147 71695147 G A rs114352207 COL13A1 Synonymous SNV P507P 0.005 0.016 0 4 6 6 0.01 0 0 0 0 0 Benign 7.606 52683 chr16 10783180 10783180 C G rs767645978 TEKT5 Nonsynonymous SNV E217Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.9 52684 chr1 26487960 26487960 C A rs889423612 FAM110D Nonsynonymous SNV P60T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.082 52685 chr16 11001421 11001421 C A rs78108426 CIITA Nonsynonymous SNV A691D 0.008 0.005 0.024 1 9 2 0.003 7 0 0 0 0 Benign 5.317 52686 chr1 26488019 26488019 G A rs3748857 FAM110D Synonymous SNV P79P 0.081 0.081 0.065 35 95 31 0.09 19 4 2 0 1 10.36 52687 chr10 7213999 7213999 C T rs201053114 SFMBT2 Nonsynonymous SNV R758Q 0.005 0.018 0.007 1 6 7 0.003 2 0 0 1 0 23.8 52688 chrX 46857675 46857675 C T JADE3 Nonsynonymous SNV L94F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.19 52689 chr10 124459248 124459248 G T rs41448048 C10orf120 Nonsynonymous SNV T20K 0.026 0.013 0.014 9 30 5 0.023 4 1 0 0 0 0.004 52690 chr10 72434602 72434602 C T rs147617019 ADAMTS14 Nonsynonymous SNV R125W 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 24.3 52691 chr16 1115843 1115846 GGCA - rs143173222 SSTR5-AS1 0 0 0.354 0 0 0 0 104 0 0 16 0 52692 chrX 48457775 48457775 G A rs782723344 WDR13 Nonsynonymous SNV R14H 0 0.003 0.007 0 0 1 0 2 0 0 1 0 27.3 52693 chr10 33474644 33474644 G A rs61760432 NRP1 Synonymous SNV F775F 0.027 0.018 0.037 6 32 7 0.015 11 0 0 0 0 14.14 52694 chr10 116091629 116091629 T C rs117043677 AFAP1L2 Nonsynonymous SNV N83S 0.024 0.065 0.024 4 28 25 0.01 7 1 1 0 0 22.5 52695 chrX 48547112 48547112 T C rs2737799 WAS Nonsynonymous SNV V332A 0.014 0.01 0.014 1 16 4 0.003 4 3 1 2 0 Benign/Likely benign 0.026 52696 chr10 117884755 117884755 G A rs76248338 GFRA1 Synonymous SNV S128S 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 Benign 11.93 52697 chr10 126670356 126670356 G A rs17152433 ZRANB1 Synonymous SNV Q502Q 0.152 0.151 0.173 77 178 58 0.197 51 16 6 5 8 9.699 52698 chr10 73048407 73048407 G A rs141237466 UNC5B Synonymous SNV A328A 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 16.6 52699 chr16 1250436 1250436 G A rs755428254 CACNA1H Synonymous SNV E328E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.657 52700 chr10 126671767 126671767 G T rs75293113 ZRANB1 Synonymous SNV T524T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 11.05 52701 chrX 49032208 49032208 G A rs12557970 PRICKLE3 Synonymous SNV S486S 0.068 0.091 0.048 31 80 35 0.079 14 20 11 5 10 10.47 52702 chr1 31349642 31349642 C T rs41269521 SDC3 Synonymous SNV R209R 0.051 0.052 0.061 20 60 20 0.051 18 1 0 0 0 8.383 52703 chrX 49458781 49458781 G A rs143224517 PAGE1 Synonymous SNV D29D 0.036 0.023 0.014 9 42 9 0.023 4 12 2 1 3 0.096 52704 chr16 1259337 1259337 C T rs59954346 CACNA1H Synonymous SNV A1223A 0.016 0.016 0.007 6 19 6 0.015 2 1 0 0 0 Benign 11.56 52705 chr10 118434408 118434408 C T rs41284376 HSPA12A Nonsynonymous SNV A638T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 1.85 52706 chr10 50822265 50822265 G A CHAT Synonymous SNV G10G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.213 52707 chr10 127668864 127668866 GAA - rs146106149 FANK1 E52del 0.017 0.013 0.02 3 20 5 0.008 6 0 0 0 0 52708 chr10 127730715 127730715 G C ADAM12 Nonsynonymous SNV L734V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.217 52709 chr1 32158076 32158076 T C rs115606583 COL16A1 Nonsynonymous SNV K398R 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Likely benign 13.63 52710 chr10 120914656 120914656 C T rs200465740 SFXN4 Nonsynonymous SNV R217Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 52711 chr10 5136622 5136638 GACAAGTGACAGGGAAT - rs755897118 AKR1C3 Star tloss M1? 0.004 0 0 2 5 0 0.005 0 0 0 0 0 52712 chrX 54324800 54324800 A G rs41300632 WNK3 Synonymous SNV H402H 0.037 0.034 0.034 11 44 13 0.028 10 10 2 4 4 1.186 52713 chr16 1273581 1273581 C T TPSG1 Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.749 52714 chr10 121196264 121196264 C T rs2230348 GRK5 Synonymous SNV N280N 0.014 0.023 0.027 7 16 9 0.018 8 0 0 0 0 12.16 52715 chr10 129172393 129172393 G A rs138926927 DOCK1 Nonsynonymous SNV R1197H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.9 52716 chr10 75860849 75860849 A C VCL Synonymous SNV T672T 0.009 0.008 0 7 10 3 0.018 0 0 0 0 0 0.353 52717 chr1 29010147 29010147 T G rs150937827 GMEB1 Nonsynonymous SNV V8G 0.012 0.008 0.014 9 14 3 0.023 4 0 0 0 0 27.3 52718 chr10 121551566 121551566 T C rs201550509 INPP5F Synonymous SNV R210R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.008 52719 chr10 76789193 76789193 C T rs371945178 KAT6B Synonymous SNV I756I 0.009 0.008 0 7 10 3 0.018 0 0 0 0 0 13.09 52720 chr10 5791895 5791895 G A rs147954390 TASOR2 Nonsynonymous SNV V2090I 0.012 0 0.003 5 14 0 0.013 1 0 0 0 0 0.937 52721 chr1 34090751 34090751 T A rs35761029 CSMD2 Nonsynonymous SNV E1800D 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 19.38 52722 chr1 44604879 44604879 T C rs2993249 KLF18 Nonsynonymous SNV R809G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 1.732 52723 chrX 67937976 67937976 G A rs55962426 STARD8 Nonsynonymous SNV R327Q 0.108 0.094 0.068 56 127 36 0.144 20 32 7 5 20 10.57 52724 chr10 129914025 129914025 C T rs41306648 MKI67 Nonsynonymous SNV G216E 0.021 0.023 0.024 9 25 9 0.023 7 0 0 0 0 2.382 52725 chr1 34112303 34112303 G A rs10798976 CSMD2 Synonymous SNV L1573L 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 13.41 52726 chrX 67940796 67940796 T G rs753983080 STARD8 Nonsynonymous SNV S614A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 23.9 52727 chrX 68382422 68382422 C T rs149179614 PJA1 Synonymous SNV S165S 0.003 0.008 0.007 0 4 3 0 2 1 0 0 0 10.69 52728 chr16 1621518 1621518 G T rs141542834 IFT140 Synonymous SNV L514L 0.001 0.01 0.01 1 1 4 0.003 3 0 0 0 0 Benign/Likely benign 6.205 52729 chr16 1621519 1621519 A T rs150903791 IFT140 Nonsynonymous SNV L514H 0.001 0.01 0.01 1 1 4 0.003 3 0 0 0 0 Benign/Likely benign 23.8 52730 chrX 69561780 69561780 T G rs1199457 KIF4A Nonsynonymous SNV L422W 0.095 0.078 0.082 36 112 30 0.092 24 32 8 10 10 25.4 52731 chrX 69573639 69573639 C T rs1199429 KIF4A Synonymous SNV P552P 0.084 0.076 0.082 35 99 29 0.09 24 27 8 10 10 12.09 52732 chr10 13213232 13213232 C G rs138949311 MCM10 Synonymous SNV P106P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.791 52733 chr16 1660274 1660274 A G rs1057983 LOC105371046 0 0 0.347 0 0 0 0 102 0 0 19 0 2.401 52734 chr11 1017755 1017755 C T rs376067175 MUC6 Synonymous SNV L1682L 0.03 0.026 0.126 8 35 10 0.021 37 0 0 0 0 3.733 52735 chr16 1822372 1822372 G A rs147183681 MRPS34 Synonymous SNV L176L 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 5.231 52736 chrX 70147659 70147659 A G rs113512004 SLC7A3 Synonymous SNV A344A 0.045 0.063 0.058 18 53 24 0.046 17 11 6 6 4 1.266 52737 chr1 35656297 35656297 C T rs140545880 SFPQ Synonymous SNV T439T 0 0 0 3 0 0 0.008 0 0 0 0 0 11.15 52738 chrX 70147836 70147836 C T rs45446793 SLC7A3 Synonymous SNV P285P 0.045 0.063 0.058 18 53 24 0.046 17 11 6 6 4 5.789 52739 chr10 124345688 124345688 C T rs3013216 DMBT1 Synonymous SNV D514D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.09 52740 chr10 83635108 83635108 G A NRG3 Synonymous SNV G4G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.709 52741 chr10 85944485 85944485 G A rs144656005 C10orf99 Nonsynonymous SNV R70H 0.008 0.008 0.024 7 9 3 0.018 7 0 0 0 0 0.01 52742 chr1 36921408 36921408 G A rs35544556 MRPS15 Nonsynonymous SNV T252I 0.012 0.023 0.01 8 14 9 0.021 3 0 0 0 0 0.642 52743 chr1 33957130 33957130 C T rs3795419 ZSCAN20 Synonymous SNV A424A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.4 52744 chr10 124712465 124712465 C A rs139420611 C10orf88 Nonsynonymous SNV G83V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 52745 chr10 85974231 85974231 C T rs45584033 CDHR1 Nonsynonymous SNV P812S 0.021 0.013 0.027 3 25 5 0.008 8 0 0 0 0 Benign/Likely benign 28.4 52746 chr10 124793997 124793997 A G rs34221067 ACADSB Synonymous SNV T56T 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 0.824 52747 chr10 6262702 6262702 C T rs2230271 PFKFB3 Synonymous SNV I215I 0.027 0.034 0.027 14 32 13 0.036 8 0 0 0 0 20.8 52748 chr10 49420126 49420126 G A rs145152474 FRMPD2 Synonymous SNV H469H 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 7.602 52749 chr1 38227722 38227722 G A rs139705028 EPHA10 Nonsynonymous SNV R69C 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 25.2 52750 chr10 49934020 49934020 G A rs34731704 WDFY4 Nonsynonymous SNV R229Q 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 23.1 52751 chr10 86004865 86004865 C T rs11200938 RGR Synonymous SNV L7L 0.066 0.049 0.061 26 78 19 0.067 18 2 0 0 0 Benign/Likely benign 8.922 52752 chr1 36638205 36638205 C T rs368982084 MAP7D1 Nonsynonymous SNV R201W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 52753 chr1 39305246 39305246 G A RRAGC Synonymous SNV G359G 0 0 0 3 0 0 0.008 0 0 0 0 0 2.148 52754 chr10 127350536 127350536 A T rs199568733 TEX36 Nonsynonymous SNV I21N 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 22.3 52755 chr10 127441439 127441439 G A rs17153510 EDRF1 Nonsynonymous SNV A1083T 0.089 0.096 0.099 26 105 37 0.067 29 5 0 1 1 24.2 52756 chr10 69793819 69793819 T G rs35224629 HERC4 Synonymous SNV A196A 0.013 0.013 0.01 3 15 5 0.008 3 0 0 0 0 9.15 52757 chrX 86880630 86880630 C G rs748134809 KLHL4 Synonymous SNV T386T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.619 52758 chr10 127693474 127693474 G A rs149457380 FANK1 Synonymous SNV A181A 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 Benign 14.62 52759 chr10 89623724 89623724 - GCG PTEN A17_P18insA 0.004 0 0 1 5 0 0.003 0 0 0 0 0 52760 chr16 20948148 20948148 G A rs565300409 DNAH3 Synonymous SNV L3848L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.089 52761 chr1 52289445 52289445 C T rs200248005 NRDC Synonymous SNV T350T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.39 52762 chr1 38227268 38227268 G T rs56276182 EPHA10 Nonsynonymous SNV T220K 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 10.43 52763 chr1 52838992 52838992 A G rs34521609 ORC1 Nonsynonymous SNV M816T 0.034 0.021 0.02 16 40 8 0.041 6 0 1 0 1 Benign 13.55 52764 chr10 90433345 90433345 T A rs6586145 LIPF Nonsynonymous SNV F191I 0.075 0.083 0.075 30 88 32 0.077 22 3 2 2 1 3.03 52765 chr10 70066553 70066553 G A rs12359690 PBLD Nonsynonymous SNV R17C 0.037 0.034 0.031 10 44 13 0.026 9 2 0 0 0 20.9 52766 chr16 2125834 2125834 T C rs13337626 TSC2 Synonymous SNV F660F 0.046 0.049 0.058 15 54 19 0.038 17 5 1 2 0 Benign 1.989 52767 chr10 128936198 128936198 G A rs763035367 INSYN2A Nonsynonymous SNV P448L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 52768 chr10 90591738 90591738 G A rs117613865 ANKRD22 Nonsynonymous SNV R23W 0.01 0.01 0.003 4 12 4 0.01 1 0 0 0 0 24.8 52769 chr10 90695265 90695265 G T rs3781211 ACTA2-AS1 0.083 0.096 0.102 34 97 37 0.087 30 4 3 1 1 5.186 52770 chr1 39463967 39463967 A G AKIRIN1 Synonymous SNV T115T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.803 52771 chr10 135083400 135083400 C T ADAM8 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 52772 chr1 39876573 39876573 A C rs74607331 KIAA0754 Nonsynonymous SNV L212F 0.005 0.005 0.014 3 6 2 0.008 4 0 0 0 0 11.09 52773 chr16 2231210 2231210 G A rs188507692 CASKIN1 Nonsynonymous SNV P720L 0.004 0.008 0.01 3 5 3 0.008 3 0 0 0 0 10.19 52774 chr16 2233892 2233892 G A rs200768705 CASKIN1 Synonymous SNV Y489Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.223 52775 chr16 2259393 2259393 C G rs1129185 BRICD5 Synonymous SNV V219V 0.072 0.068 0.088 30 84 26 0.077 26 3 2 1 0 8.571 52776 chr10 70968505 70968505 C T rs28932172 SUPV3L1 Nonsynonymous SNV P363L 0.026 0.031 0.034 19 30 12 0.049 10 0 0 0 0 11.36 52777 chr10 135099030 135099030 C T rs142228780 TUBGCP2 Nonsynonymous SNV A479T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.34 52778 chr16 2285437 2285437 G A rs138375156 E4F1 Nonsynonymous SNV R563Q 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 17.03 52779 chr10 131761693 131761693 T G rs75074888 EBF3 Synonymous SNV R77R 0.031 0.042 0.054 15 36 16 0.038 16 2 0 0 2 8.543 52780 chr10 13234486 13234486 A G rs146982076 MCM10 Nonsynonymous SNV I555V 0.004 0 0 5 5 0 0.013 0 0 0 0 0 11.03 52781 chr16 23203690 23203690 C T rs5739 SCNN1G Synonymous SNV S212S 0.027 0.039 0.027 10 32 15 0.026 8 1 0 0 0 Benign/Likely benign 10.38 52782 chr16 23403744 23403744 A G rs8057712 COG7 Synonymous SNV P701P 0.052 0.055 0.061 22 61 21 0.056 18 3 0 1 1 Benign/Likely benign 0.154 52783 chr16 23409440 23409440 G A rs16940094 COG7 Nonsynonymous SNV T605M 0.059 0.052 0.065 26 69 20 0.067 19 2 0 1 1 Benign/Likely benign 15.03 52784 chr16 23672560 23672560 A T rs11545871 DCTN5 Synonymous SNV A102A 0.074 0.06 0.058 23 87 23 0.059 17 4 0 0 0 4.045 52785 chr16 23703368 23703368 T C rs56029718 ERN2 Synonymous SNV P712P 0.032 0.026 0.024 8 37 10 0.021 7 0 0 0 0 0.018 52786 chr1 43885904 43885904 A G rs572219499 SZT2 Nonsynonymous SNV T391A 0 0 0 4 0 0 0.01 0 0 0 0 0 22 52787 chr10 95849097 95849097 G A rs41291124 PLCE1 Synonymous SNV K82K 0.026 0.029 0.02 13 31 11 0.033 6 0 0 0 0 16.76 52788 chr1 1247943 1247943 - CCCTGCCCTG rs562147098 MIR6727 0.018 0.021 0 6 21 8 0.015 0 0 0 0 0 52789 chr1 43896217 43896217 G A rs76675748 SZT2 Nonsynonymous SNV V1454I 0.003 0 0.007 8 4 0 0.021 2 0 0 0 0 Benign/Likely benign 24.4 52790 chr10 51568373 51568373 C A NCOA4 Nonsynonymous SNV T6N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.303 52791 chr16 24803045 24803045 A G rs201134729 TNRC6A Nonsynonymous SNV N1028D 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 10.57 52792 chr1 41626567 41626567 G A rs755866378 SCMH1 Nonsynonymous SNV A29V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.14 52793 chr1 1354538 1354538 G A rs185838741 ANKRD65 Nonsynonymous SNV A381V 0.018 0.016 0 5 21 6 0.013 0 0 0 0 0 0.006 52794 chr1 55181281 55181284 TAAG - rs147253229 MROH7-TTC4 0.065 0.049 0.061 23 76 19 0.059 18 3 0 1 1 52795 chr1 55188382 55188382 C T rs11550481 TTC4 Synonymous SNV A168A 0.068 0.057 0.092 25 80 22 0.064 27 4 0 1 1 15.51 52796 chr1 55197320 55197320 G A rs1062700 TTC4 Synonymous SNV L281L 0.062 0.049 0.051 23 73 19 0.059 15 2 0 1 1 13.18 52797 chr1 55207216 55207216 T C rs41297863 MROH7-TTC4 0.061 0.055 0.082 24 72 21 0.062 24 3 0 1 1 6.007 52798 chr1 42047300 42047300 A T rs41269473 HIVEP3 Nonsynonymous SNV S1057T 0.035 0.023 0.034 8 41 9 0.021 10 1 0 0 0 0.001 52799 chr1 44415424 44415424 A G rs41270385 IPO13 Synonymous SNV P140P 0.028 0.042 0.027 16 33 16 0.041 8 0 0 0 0 2.396 52800 chr1 55451989 55451989 C T rs367544152 TMEM61 Synonymous SNV L79L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 9.448 52801 chr1 44423203 44423203 A T IPO13 Nonsynonymous SNV T508S 0 0 0 3 0 0 0.008 0 0 0 0 0 22.8 52802 chr10 134674442 134674442 G A rs12249250 CFAP46 Synonymous SNV L1645L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 5.842 52803 chr10 97698356 97698356 T C rs7907476 CC2D2B Nonsynonymous SNV M189T 0.031 0.026 0.024 10 36 10 0.026 7 0 0 0 0 8.798 52804 chr1 44440769 44440769 G C rs2286241 ATP6V0B Synonymous SNV A19A 0.054 0.068 0.051 27 63 26 0.069 15 3 0 0 1 14.02 52805 chr1 44447413 44447413 G C rs1859728 B4GALT2 Nonsynonymous SNV Q122H 0.06 0.078 0.061 32 71 30 0.082 18 3 0 0 1 23.5 52806 chr1 44461822 44461822 C T rs2301983 CCDC24 Nonsynonymous SNV A171V 0.031 0.039 0.044 16 36 15 0.041 13 0 0 0 0 24.8 52807 chr1 44685762 44685762 C T rs116279448 DMAP1 Synonymous SNV Y375Y 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 9.634 52808 chr1 45797228 45797228 C T rs36053993 MUTYH Nonsynonymous SNV G253D 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Pathogenic/Likely pathogenic 29.4 52809 chr1 45974886 45974886 G C rs201025783 MMACHC X226S 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.481 52810 chr10 5998364 5998364 G C IL15RA Nonsynonymous SNV L155V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.212 52811 chr1 57489239 57489239 C T rs34341631 DAB1 Nonsynonymous SNV S287N 0.026 0.026 0.037 13 30 10 0.033 11 0 0 0 0 19.81 52812 chr1 43675499 43675499 C T rs41301054 CFAP57 Nonsynonymous SNV S614L 0.038 0.039 0.054 19 45 15 0.049 16 1 1 1 0 28.1 52813 chr10 135077265 135077265 A G rs3008319 ADAM8 Nonsynonymous SNV I775T 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 11.76 52814 chr16 30128021 30128021 G A rs756047833 MAPK3 Nonsynonymous SNV R326C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 52815 chr10 99093820 99093820 G A rs772380383 FRAT2 Synonymous SNV A170A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.68 52816 chr16 30544041 30544041 C A rs11545007 ZNF747 Nonsynonymous SNV V259F 0.026 0.023 0.014 3 31 9 0.008 4 0 0 0 0 21.2 52817 chr16 30567190 30567190 A G rs148876938 ZNF764 Synonymous SNV F183F 0.029 0.026 0.014 3 34 10 0.008 4 0 0 0 0 4.358 52818 chr1 46660034 46660034 C G POMGNT1 Nonsynonymous SNV R242P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.1 52819 chr16 30567217 30567217 A G rs143534634 ZNF764 Synonymous SNV H174H 0.029 0.026 0.014 3 34 10 0.008 4 0 0 0 0 0.01 52820 chr10 74881951 74881951 G A rs34284214 NUDT13 Nonsynonymous SNV G81D 0.031 0.023 0.01 17 36 9 0.044 3 1 0 0 0 8.03 52821 chr16 30749742 30749742 G T SRCAP Nonsynonymous SNV R2794L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.167 52822 chr10 135193945 135193945 T C rs117600655 PAOX Synonymous SNV F208F 0.014 0.018 0.003 7 17 7 0.018 1 0 0 0 0 0.012 52823 chr1 47131319 47131319 A T rs597221 ATPAF1 Star tloss M1? 0.013 0.021 0.027 10 15 8 0.026 8 1 0 1 0 2.297 52824 chr10 26455090 26455090 G A rs34918608 MYO3A Nonsynonymous SNV A1032T 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign/Likely benign 24.4 52825 chr11 1079757 1079757 G A rs72652900 MUC2 Nonsynonymous SNV R325H 0.008 0.016 0.017 9 9 6 0.023 5 0 0 0 0 14.84 52826 chr16 31090269 31090269 C T rs75586809 ZNF646 Nonsynonymous SNV A875V 0.032 0.029 0.014 5 38 11 0.013 4 0 0 0 0 16.02 52827 chr1 62703977 62703977 G A rs34591898 KANK4 Nonsynonymous SNV A359V 0.034 0.039 0.061 15 40 15 0.038 18 1 0 1 0 23.7 52828 chr11 108032233 108032233 C A rs181187590 NPAT Nonsynonymous SNV G1201C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 52829 chr1 44458048 44458048 C T rs74657675 CCDC24 Synonymous SNV I97I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 12.63 52830 chr11 1080391 1080391 G A rs41521547 MUC2 Nonsynonymous SNV E371K 0.09 0.091 0.082 39 106 35 0.1 24 6 2 1 2 21.2 52831 chr11 1080954 1080954 G A rs11245929 MUC2 Synonymous SNV T446T 0.093 0.091 0.095 39 109 35 0.1 28 6 2 2 2 13.86 52832 chr10 78709020 78709020 C T rs142004793 KCNMA1 Synonymous SNV P755P 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 17.39 52833 chr1 45293318 45293318 G A rs11573587 PTCH2 Synonymous SNV D709D 0.014 0.021 0.007 7 17 8 0.018 2 0 0 0 0 Benign 6.229 52834 chr1 3646645 3646645 C T rs768655603 TP73 Synonymous SNV S377S 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 9.467 52835 chr11 1081141 1081141 C T rs41375149 MUC2 Synonymous SNV T479T 0.093 0.091 0.085 39 109 35 0.1 25 6 2 1 2 10.3 52836 chr11 108115587 108115587 C T rs3218674 ATM Synonymous SNV V245V 0.01 0.023 0 5 12 9 0.013 0 0 0 0 0 Benign/Likely benign 11.67 52837 chr10 79814319 79814319 T C rs72642283 RPS24 Synonymous SNV L141L 0.031 0.044 0.017 11 36 17 0.028 5 0 0 0 0 0.012 52838 chr16 31580530 31580530 A C rs4889548 YBX3P1 0 0 0.378 0 0 0 0 111 0 0 24 0 8.032 52839 chr11 108345575 108345575 C G rs138414935 POGLUT3 Nonsynonymous SNV K363N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.44 52840 chr10 81371698 81371698 C T rs72659390 SFTPA1 Synonymous SNV H39H 0.158 0.133 0.184 61 185 51 0.156 54 15 5 4 6 Benign 8.894 52841 chr1 51753904 51753904 G A rs17392930 TTC39A Synonymous SNV I130I 0.039 0.026 0.075 19 46 10 0.049 22 3 0 0 0 11.55 52842 chr11 108380620 108380620 T C rs143096226 EXPH5 Nonsynonymous SNV T1684A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 0.001 52843 chr16 3335152 3335152 A G rs550664600 ZNF263 Nonsynonymous SNV M161V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 52844 chr1 6304449 6304449 C T HES3 Synonymous SNV R8R 0.024 0.016 0 7 28 6 0.018 0 2 0 0 0 17.12 52845 chr11 1084362 1084362 G A rs11245936 MUC2 Nonsynonymous SNV G832S 0.091 0.089 0.082 37 107 34 0.095 24 6 1 1 1 23.2 52846 chr1 53099276 53099276 C G rs202139774 SHISAL2A Synonymous SNV R37R 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 20.3 52847 chr11 1088815 1088815 A G rs7103978 MUC2 Synonymous SNV A1200A 0.083 0.083 0.085 30 97 32 0.077 25 4 0 1 1 2.51 52848 chr11 1088835 1088835 C T rs41389046 MUC2 Nonsynonymous SNV T1207I 0.083 0.081 0.085 30 97 31 0.077 25 4 0 1 1 0.07 52849 chr11 1090343 1090343 T C rs12221966 MUC2 Synonymous SNV C1213C 0.106 0.096 0.095 39 125 37 0.1 28 6 1 2 1 0.006 52850 chr11 1092388 1092388 A C rs111520984 MUC2 Nonsynonymous SNV T1403P 0.066 0.07 0.065 26 78 27 0.067 19 4 0 0 1 0.003 52851 chr1 46501258 46501258 C T rs200705901 MAST2 Synonymous SNV P1638P 0.003 0.013 0 2 4 5 0.005 0 0 0 0 0 5.874 52852 chr11 1093472 1093472 C G rs758913852 MUC2 Nonsynonymous SNV T1764S 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 0.037 52853 chr11 1093473 1093473 C T rs764563945 MUC2 Synonymous SNV T1764T 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 8.836 52854 chr10 19392925 19392925 A G rs57243552 MALRD1 Synonymous SNV Q205Q 0.035 0.042 0.061 24 41 16 0.062 18 1 0 0 1 Benign 10.19 52855 chr11 1093479 1093479 - CTG rs753053232 MUC2 T1766_T1767insL 0.017 0.008 0 3 20 3 0.008 0 0 0 0 0 52856 chr11 1093482 1093484 GGT - rs778068446 MUC2 V1768del 0.016 0.008 0 3 19 3 0.008 0 0 0 0 0 52857 chr16 34404560 34404560 T G rs7206496 UBE2MP1 0 0 0.847 0 0 0 0 249 0 0 123 0 4.705 52858 chr1 6635306 6635306 G A rs34160967 TAS1R1 Nonsynonymous SNV A372T 0.057 0.065 0.075 21 67 25 0.054 22 2 0 0 1 0.558 52859 chr11 1093769 1093769 G A rs41361144 MUC2 Nonsynonymous SNV R1863Q 0.066 0.068 0.068 27 78 26 0.069 20 4 0 0 2 3.484 52860 chr10 85984444 85984444 T G rs11200927 LRIT2 Nonsynonymous SNV K179N 0.014 0.021 0.01 8 17 8 0.021 3 0 0 0 0 17.55 52861 chr11 1101078 1101078 A G rs11245954 MUC2 Nonsynonymous SNV S2493G 0.059 0.07 0.068 26 69 27 0.067 20 3 0 0 2 0.825 52862 chr11 1103296 1103296 T C rs7126405 MUC2 Synonymous SNV F2682F 0.083 0.081 0.099 43 98 31 0.11 29 6 0 2 4 0.006 52863 chr11 1103873 1103873 C T rs11245957 MUC2 Synonymous SNV Y2724Y 0.074 0.078 0.088 40 87 30 0.103 26 5 0 1 3 4.102 52864 chr11 1104123 1104123 C T rs12270802 MUC2 Synonymous SNV L2772L 0.074 0.078 0.085 40 87 30 0.103 25 5 0 1 3 9.082 52865 chr10 86017740 86017740 C T rs61730895 RGR Nonsynonymous SNV S241F 0.011 0.021 0.014 10 13 8 0.026 4 0 0 0 0 Benign 14.17 52866 chr1 54060378 54060378 G A rs76197693 GLIS1 Synonymous SNV C66C 0.024 0.021 0.014 9 28 8 0.023 4 0 0 0 0 4.757 52867 chr10 86198279 86198279 A G CCSER2 Nonsynonymous SNV Y54C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.7 52868 chr1 54203608 54203608 C T rs797905 GLIS1 Nonsynonymous SNV G44S 0.033 0.021 0 22 39 8 0.056 0 3 1 0 3 10.95 52869 chr10 871226 871226 C T rs772963374 LARP4B Synonymous SNV A421A 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 14.29 52870 chr1 54348892 54348892 A G rs140167010 YIPF1 Nonsynonymous SNV I30T 0 0 0 4 0 0 0.01 0 0 0 0 0 20.4 52871 chr1 8074334 8074334 C T rs34781518 ERRFI1 Nonsynonymous SNV D109N 0.03 0.031 0.024 11 35 12 0.028 7 1 0 0 0 23.1 52872 chr1 68512441 68512441 A G rs61736596 DIRAS3 Synonymous SNV I180I 0.057 0.055 0.105 27 67 21 0.069 31 2 1 1 0 3.854 52873 chr1 68512899 68512899 C A rs35600387 DIRAS3 Nonsynonymous SNV A28S 0.056 0.049 0.095 25 66 19 0.064 28 2 0 1 0 0.008 52874 chr16 3795292 3795292 G T rs129974 CREBBP Synonymous SNV I1262I 0.008 0 0.017 3 9 0 0.008 5 0 0 0 0 Benign 11.6 52875 chr16 3820667 3820667 C T rs3025694 CREBBP Synonymous SNV P890P 0.007 0 0.01 3 8 0 0.008 3 0 0 0 0 Benign 11.76 52876 chr10 88446830 88446830 G A rs121908338 LDB3 Nonsynonymous SNV D117N 0.011 0.008 0.017 7 13 3 0.018 5 0 0 0 0 Benign/Likely benign 23.2 52877 chr16 417757 417757 T C rs13226 MRPL28 Nonsynonymous SNV Y230C 0.072 0.096 0.061 30 85 37 0.077 18 4 3 0 0 9.496 52878 chr1 10166309 10166309 G T rs146983740 UBE4B Synonymous SNV V288V 0.009 0.018 0.007 3 11 7 0.008 2 0 0 0 0 9.651 52879 chr1 51439777 51439777 C T rs1043141 CDKN2C Synonymous SNV G114G 0.101 0.089 0.065 35 119 34 0.09 19 4 1 0 2 12.78 52880 chr1 75685503 75685503 T C SLC44A5 Nonsynonymous SNV Y381C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.9 52881 chr16 46602819 46602819 C T rs12934443 ANKRD26P1 0 0 0.425 0 0 0 0 125 0 0 20 0 5.695 52882 chr1 55279486 55279486 - A rs200062276 LEXM 0.01 0.003 0.007 8 12 1 0.021 2 0 0 0 0 52883 chr1 11575551 11575551 G A rs768871813 DISP3 Nonsynonymous SNV V527M 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 29.3 52884 chr1 54060109 54060109 A G rs139516969 GLIS1 Nonsynonymous SNV L156P 0.023 0.008 0.007 6 27 3 0.015 2 0 1 0 0 Benign 24.6 52885 chr16 48145742 48145742 T A rs34135219 ABCC12 Nonsynonymous SNV E690V 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 17.53 52886 chr1 11839971 11839971 C T rs41275460 C1orf167 Nonsynonymous SNV R922W 0.055 0.078 0.031 22 65 30 0.056 9 2 1 0 0 27.6 52887 chr1 79403803 79403803 A C rs367935699 ADGRL4 Synonymous SNV L186L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.038 52888 chr10 73476021 73476021 G A rs200093795 C10orf105 Nonsynonymous SNV T25I 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 23.5 52889 chr10 95287792 95287792 C G rs200014799 CEP55 Nonsynonymous SNV P426R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.2 52890 chr16 48577065 48577065 C T rs148110587 N4BP1 Nonsynonymous SNV R814Q 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 24.5 52891 chr1 85040025 85040033 AGCAGCGCT - rs757082869 CTBS L31_L33del 0.063 0.065 0.061 20 74 25 0.051 18 1 1 1 0 52892 chr16 4935636 4935636 G A rs2075639 PPL Nonsynonymous SNV A1007V 0.063 0.086 0.048 15 74 33 0.038 14 2 2 0 0 15.94 52893 chr10 29821965 29821965 C A rs139737891 SVIL Nonsynonymous SNV C444F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 52894 chr16 49669923 49669923 G A rs111229124 ZNF423 Nonsynonymous SNV A930V 0.013 0.003 0.007 2 15 1 0.005 2 0 0 0 0 Benign/Likely benign 21 52895 chr16 50187896 50187896 G A rs111797270 TENT4B Nonsynonymous SNV A122T 0.04 0.036 0.054 20 47 14 0.051 16 1 0 0 0 14.34 52896 chr16 5061113 5061113 G A rs116849014 SEC14L5 Synonymous SNV R606R 0.007 0.013 0.02 3 8 5 0.008 6 0 0 0 0 17.17 52897 chr10 73768142 73768142 C T rs76803307 CHST3 Synonymous SNV F451F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.97 52898 chr1 85656421 85656421 C T rs192842795 SYDE2 Nonsynonymous SNV A254T 0.009 0.005 0 0 10 2 0 0 0 0 0 0 23.9 52899 chr16 50745493 50745493 C T rs35422070 NOD2 Synonymous SNV G530G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 52900 chr16 50841386 50841386 C T rs74753645 LINC02168 0 0 0.122 0 0 0 0 36 0 0 2 0 0.837 52901 chr16 53076131 53076131 T C rs62049054 LOC105371267 0 0 0.163 0 0 0 0 48 0 0 5 0 2.696 52902 chr11 117302392 117302392 G A rs368312707 DSCAML1 Synonymous SNV Y1744Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.219 52903 chr10 97386497 97386497 G T rs3765571 ALDH18A1 Nonsynonymous SNV S160Y 0.035 0.042 0.041 6 41 16 0.015 12 1 0 1 0 Benign/Likely benign 24.8 52904 chr11 117352823 117352823 G C rs376602423 DSCAML1 Nonsynonymous SNV A805G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.81 52905 chr10 97445357 97445357 C A rs55859130 TCTN3 Nonsynonymous SNV A309S 0.033 0.036 0.041 6 39 14 0.015 12 1 0 1 0 Benign 0.03 52906 chr10 97515948 97515948 - G rs149930011 ENTPD1-AS1 0.032 0.01 0.01 10 37 4 0.026 3 1 0 0 0 52907 chr1 60506762 60506762 G A rs74843231 C1orf87 Synonymous SNV T128T 0.074 0.086 0.065 16 87 33 0.041 19 4 1 0 1 8.424 52908 chr10 49420066 49420066 A G rs17011019 FRMPD2 Synonymous SNV V489V 0.046 0.049 0.051 14 54 19 0.036 15 2 0 0 0 0.16 52909 chr16 56227909 56227909 G A rs76026714 DKFZP434H168 0 0 0.037 0 0 0 0 11 0 0 0 0 9.435 52910 chr16 56227965 56227965 T G rs59779556 DKFZP434H168 0 0 0.466 0 0 0 0 137 0 0 34 0 12.04 52911 chr10 98744846 98744846 G T rs148799844 LCOR Nonsynonymous SNV K1543N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 52912 chr1 66101898 66101898 A G rs142647085 LEPR Nonsynonymous SNV I900V 0 0.005 0.007 3 0 2 0.008 2 0 0 0 0 Uncertain significance 1.356 52913 chr10 98762051 98762051 T G rs3740528 SLIT1 Synonymous SNV A1410A 0.06 0.057 0.044 26 70 22 0.067 13 2 0 0 0 4.93 52914 chr10 99025673 99025673 C G rs138934575 ARHGAP19 Nonsynonymous SNV G89A 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 16.37 52915 chr10 34620193 34620193 G A rs116709084 PARD3 Synonymous SNV A823A 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 12.9 52916 chr1 15986574 15986574 C G rs145936844 RSC1A1 Nonsynonymous SNV H71D 0.011 0.005 0 2 13 2 0.005 0 0 0 0 0 12.87 52917 chr11 118889620 118889620 C A TRAPPC4 Nonsynonymous SNV L39M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 52918 chr1 67705958 67705958 G A rs11209026 IL23R Nonsynonymous SNV R381Q 0.066 0.076 0.092 36 78 29 0.092 27 4 1 1 1 protective 32 52919 chr16 57017319 57017319 G A rs1800777 CETP Nonsynonymous SNV R408Q 0.025 0.018 0.02 6 29 7 0.015 6 0 0 0 0 Benign 0.085 52920 chr11 119045951 119045951 C T rs145779362 NLRX1 Nonsynonymous SNV R547W 0.009 0.005 0.02 4 10 2 0.01 6 0 0 0 0 31 52921 chr1 74506942 74506942 G A rs79435376 LRRIQ3 Nonsynonymous SNV A558V 0.047 0.052 0.01 15 55 20 0.038 3 1 0 0 0 0.894 52922 chr10 85902480 85902480 T C rs573389924 GHITM Synonymous SNV L67L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.445 52923 chr1 64095111 64095111 A G rs855314 PGM1 Nonsynonymous SNV I106V 0.126 0.133 0.187 63 148 51 0.162 55 15 5 5 8 Benign/Likely benign 22.8 52924 chr11 119508867 119508867 C A rs780910043 NECTIN1 Nonsynonymous SNV V440F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 52925 chr10 46969248 46969248 C G rs537991234 LOC102724488, SYT15 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 23 52926 chr1 91845734 91845734 T C rs144947710 HFM1 Synonymous SNV V311V 0.03 0.031 0.014 10 35 12 0.026 4 1 0 0 1 9.55 52927 chr10 86273605 86273605 C T rs117675200 CCSER2 Nonsynonymous SNV P336L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.021 52928 chr10 46970747 46970755 GGGCGCCAG - rs201254597 LOC102724488 L20_P22del 0.01 0.018 0.003 3 12 7 0.008 1 0 0 0 0 52929 chr1 65867519 65867519 G A rs4915691 DNAJC6 Nonsynonymous SNV S728N 0.036 0.047 0.065 16 42 18 0.041 19 2 0 1 0 4.757 52930 chr10 52913020 52913020 G A rs55806342 PRKG1 Synonymous SNV P121P 0.02 0.023 0.054 6 23 9 0.015 16 0 0 0 0 Benign 13.24 52931 chr1 66713206 66713206 C T rs143755153 PDE4B Synonymous SNV S100S 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 15.94 52932 chr1 76775246 76775246 G A rs12408380 ST6GALNAC3 Star tloss M1? 0.011 0.013 0 6 13 5 0.015 0 0 0 0 0 0.806 52933 chr16 58557342 58557342 G A rs11644694 CNOT1 Synonymous SNV Y2278Y 0.017 0.016 0.065 7 20 6 0.018 19 0 0 1 0 6.701 52934 chr16 58616997 58616997 C T rs34830321 CNOT1 Nonsynonymous SNV R299Q 0.005 0.003 0.02 6 6 1 0.015 6 0 0 0 0 24.2 52935 chr11 120831678 120831678 C T rs764485323 GRIK4 Synonymous SNV T645T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.54 52936 chr1 67558756 67558756 C T rs41313272 C1orf141 Nonsynonymous SNV E379K 0.04 0.055 0.051 12 47 21 0.031 15 1 1 0 0 0.034 52937 chr1 67558763 67558763 A G rs41299551 C1orf141 Synonymous SNV Y376Y 0.04 0.055 0.051 12 47 21 0.031 15 1 1 0 0 0.003 52938 chr11 1016924 1016924 G A MUC6 Synonymous SNV S1959S 0.014 0.003 0.163 1 16 1 0.003 48 0 0 0 0 1.646 52939 chr16 593293 593293 C T MIR3176 0 0 0.003 0 0 0 0 1 0 0 0 0 1.824 52940 chr1 67561090 67561090 T C rs72933970 C1orf141 Nonsynonymous SNV Q144R 0.043 0.055 0.051 13 50 21 0.033 15 1 1 0 0 0.006 52941 chr10 5791052 5791052 G A rs200299323 TASOR2 Nonsynonymous SNV E1809K 0.012 0.013 0.01 2 14 5 0.005 3 0 0 0 0 18 52942 chr11 1016947 1016947 C T MUC6 Nonsynonymous SNV A1952T 0.003 0.003 0.116 1 4 1 0.003 34 0 0 0 0 17.08 52943 chr1 19166243 19166243 G A rs12075191 TAS1R2 Synonymous SNV I790I 0.053 0.047 0.051 21 62 18 0.054 15 2 1 0 0 10.75 52944 chr1 19166893 19166893 C T rs6662276 TAS1R2 Nonsynonymous SNV A574T 0.057 0.049 0.051 21 67 19 0.054 15 2 1 0 0 0.039 52945 chr11 10555586 10555586 C G rs72859181 RNF141 Synonymous SNV G40G 0.012 0.013 0.014 4 14 5 0.01 4 0 0 0 0 10.67 52946 chr1 68512523 68512523 T G DIRAS3 Nonsynonymous SNV K153T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 52947 chr1 70541879 70541879 G A rs143842567 LRRC7 Synonymous SNV L1404L 0.004 0 0 0 5 0 0 0 0 0 0 0 9.442 52948 chr1 70618171 70618171 A C LRRC40 Nonsynonymous SNV S462A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 15.66 52949 chr11 12281537 12281537 G T rs113124121 MICAL2 Nonsynonymous SNV A896S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.312 52950 chr1 85666472 85666474 GCG - rs991559698 SYDE2 P69del 0 0 0 1 0 0 0.003 0 0 0 0 0 52951 chr10 49937561 49937561 G A WDFY4 Synonymous SNV R352R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.1 52952 chr1 20664156 20664156 C A rs199572586 VWA5B1 Synonymous SNV R654R 0.014 0.013 0.02 6 17 5 0.015 6 0 0 0 0 16.83 52953 chr1 75038964 75038964 C T rs41289214 ERICH3 Synonymous SNV R810R 0.022 0.003 0.024 7 26 1 0.018 7 0 0 0 0 11.61 52954 chr1 75065441 75065441 C T rs696698 ERICH3 Nonsynonymous SNV R555H 0.077 0.034 0.061 25 90 13 0.064 18 1 0 0 1 2.989 52955 chr11 108380804 108380804 G T EXPH5 Nonsynonymous SNV S1622R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 20.6 52956 chr11 10876279 10876279 C T ZBED5 Nonsynonymous SNV D72N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.57 52957 chr1 21625357 21625357 G A rs138305492 ECE1-AS1 0.034 0.036 0.041 17 40 14 0.044 12 0 0 0 0 7.329 52958 chr1 77334277 77334288 GCAGCAGCAGCA - rs746986093 ST6GALNAC5 Q46_Q49del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 52959 chr1 21924912 21924912 A G rs61775974 RAP1GAP Synonymous SNV T684T 0.036 0.039 0.024 10 42 15 0.026 7 0 0 0 0 7.729 52960 chr16 68026063 68026063 C T rs142359415 DPEP2 Nonsynonymous SNV D142N 0.006 0.008 0.031 2 7 3 0.005 9 0 0 0 0 11.08 52961 chr16 68337948 68337948 T C rs11548855 SLC7A6OS Nonsynonymous SNV Y220C 0.045 0.044 0.041 7 53 17 0.018 12 0 0 1 0 26.1 52962 chr16 683547 683547 G A rs148648187 WFIKKN1 Synonymous SNV P379P 0.015 0.023 0.01 9 18 9 0.023 3 0 0 0 0 8.852 52963 chr11 123893765 123893765 C T rs141446565 OR10G9 Nonsynonymous SNV P16S 0.003 0.01 0.007 1 4 4 0.003 2 0 0 0 0 4.241 52964 chr16 68395522 68395522 C T rs71395853 SMPD3 Nonsynonymous SNV C617Y 0.061 0.057 0.071 28 72 22 0.072 21 1 0 1 3 12.73 52965 chr11 1017757 1017757 G A rs79198757 MUC6 Synonymous SNV L1682L 0.014 0.005 0.139 4 16 2 0.01 41 0 0 0 0 2.97 52966 chr10 50830171 50830171 C T rs8178990 CHAT Nonsynonymous SNV L125F 0.027 0.049 0.044 12 32 19 0.031 13 0 0 0 0 Benign 29.9 52967 chr11 1017782 1017782 C T rs75684592 MUC6 Synonymous SNV L1673L 0.006 0.003 0.068 7 7 1 0.018 20 0 0 0 0 7.882 52968 chr1 89582702 89582702 A G rs2230336 GBP2 Nonsynonymous SNV S281P 0.031 0.052 0.044 18 36 20 0.046 13 0 2 1 0 0.09 52969 chr11 1017786 1017786 G A rs757263289 MUC6 Nonsynonymous SNV T1672M 0.007 0.005 0.065 7 8 2 0.018 19 0 0 0 0 16.15 52970 chr1 89652052 89652052 G T GBP4 Synonymous SNV L557L 0.008 0.018 0 2 9 7 0.005 0 0 0 0 0 0.253 52971 chr1 89652053 89652053 A T GBP4 Nonsynonymous SNV L557H 0.008 0.018 0 2 9 7 0.005 0 0 0 0 0 21.9 52972 chr10 70100987 70100987 A G rs144723762 HNRNPH3 Synonymous SNV R124R 0.003 0.005 0.01 1 3 2 0.003 3 0 0 1 0 1.477 52973 chr11 1017935 1017935 A C rs138784536 MUC6 Synonymous SNV S1622S 0.04 0.031 0.017 17 47 12 0.044 5 0 0 0 0 0.002 52974 chr10 50959965 50959965 C T rs7090775 OGDHL Synonymous SNV Q10Q 0.055 0.023 0.048 17 64 9 0.044 14 1 0 0 0 13.92 52975 chr16 70602239 70602239 A G rs199740211 SF3B3 Synonymous SNV V1002V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 52976 chr10 52566594 52566594 G C rs34190540 A1CF Synonymous SNV L552L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 10.03 52977 chr1 85647966 85647966 G A SYDE2 Nonsynonymous SNV L787F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.6 52978 chr11 124793776 124793776 G T HEPACAM Synonymous SNV P186P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.09 52979 chr11 124856781 124856781 T A CCDC15 Synonymous SNV V299V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.253 52980 chr10 71144659 71144659 G A rs148999865 HK1 Synonymous SNV T577T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 52981 chr1 86249179 86249179 T A COL24A1 Nonsynonymous SNV R728S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.3 52982 chr11 125301193 125301195 GAG - rs3832749 PKNOX2 E447del 0.075 0.096 0.078 44 88 37 0.113 23 2 2 0 3 52983 chr16 72130737 72130737 C T rs370388859 DHX38 Nonsynonymous SNV R114W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 23.1 52984 chr1 110586443 110586443 T C rs112456881 STRIP1 Synonymous SNV T322T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 2.128 52985 chr11 125482982 125482982 T C rs34079079 STT3A Synonymous SNV I396I 0.027 0.031 0.024 8 32 12 0.021 7 1 0 0 0 Benign 3.513 52986 chr16 74709610 74709610 G A rs34389205 MLKL Nonsynonymous SNV T364M 0.016 0.01 0.02 12 19 4 0.031 6 0 0 0 0 5.472 52987 chr16 74729262 74729262 A G rs35589326 MLKL Nonsynonymous SNV S132P 0.015 0.018 0.024 7 18 7 0.018 7 0 0 0 0 6.381 52988 chr1 94473846 94473846 G A rs56142141 ABCA4 Nonsynonymous SNV P1948L 0.054 0.044 0.037 11 63 17 0.028 11 1 0 0 0 Benign/Likely benign 23 52989 chr10 72532314 72532314 G A rs12415264 TBATA Nonsynonymous SNV P310L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.002 52990 chr11 115088647 115088647 C T rs113893105 CADM1 Synonymous SNV A262A 0.035 0.023 0.031 10 41 9 0.026 9 1 0 0 2 Benign 16.68 52991 chr11 116631542 116631542 G C rs35004487 BUD13 Nonsynonymous SNV S254C 0.027 0.021 0.017 6 32 8 0.015 5 1 0 0 0 Benign 31 52992 chr11 1016555 1016555 T A rs368231951 MUC6 Synonymous SNV T2082T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 4.669 52993 chr1 100154899 100154899 T C rs41285728 PALMD Synonymous SNV D361D 0.024 0.029 0.027 11 28 11 0.028 8 0 0 0 0 0.001 52994 chr11 117392009 117392009 C T rs200932029 DSCAML1 Nonsynonymous SNV R350H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.1 52995 chr11 1016869 1016869 A C rs35469308 MUC6 Nonsynonymous SNV F1978V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.002 52996 chr11 102465470 102465470 C T rs748718656 MMP20 Synonymous SNV Q324Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.78 52997 chr10 73521779 73521779 C T rs146801768 VSIR Synonymous SNV P29P 0.025 0.013 0.027 7 29 5 0.018 8 0 0 0 0 18.06 52998 chr1 24663184 24663184 T C rs34637004 GRHL3 Nonsynonymous SNV V114A 0.029 0.034 0.037 19 34 13 0.049 11 0 0 0 1 Benign 9.393 52999 chr16 81058342 81058342 C T rs200191233 CENPN Nonsynonymous SNV T199M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.2 53000 chr11 102482626 102482626 T G rs61753771 MMP20 Nonsynonymous SNV K128T 0.009 0.01 0 2 10 4 0.005 0 0 0 0 1 Uncertain significance 23.4 53001 chr11 1016891 1016891 G A MUC6 Synonymous SNV S1970S 0.009 0.003 0.099 1 10 1 0.003 29 0 0 0 0 8.638 53002 chr10 73544093 73544093 C G rs74145660 CDH23 Nonsynonymous SNV D1806E 0.016 0.005 0.017 9 19 2 0.023 5 0 0 0 0 Benign 22.4 53003 chr11 1016900 1016900 G T MUC6 Synonymous SNV T1967T 0.012 0.005 0.126 1 14 2 0.003 37 0 0 0 0 5.272 53004 chr1 92948938 92948938 C T rs34631763 GFI1 Nonsynonymous SNV S36N 0.056 0.065 0.051 23 66 25 0.059 15 0 1 0 0 Benign 20.7 53005 chr11 102575459 102575459 A G rs145299242 MMP27 Synonymous SNV L50L 0.003 0.003 0.02 5 3 1 0.013 6 0 0 0 0 0.362 53006 chr1 93302919 93302919 T C rs77093817 SNORD21 0.003 0 0 4 4 0 0.01 0 0 0 0 0 10.96 53007 chr11 129739590 129739590 G A rs373932545 NFRKB Synonymous SNV H1135H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.617 53008 chr10 70731744 70731744 A G DDX21 Nonsynonymous SNV N427S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 53009 chr11 129785615 129785615 C T rs3734071 PRDM10 Synonymous SNV T736T 0.029 0.044 0.037 10 34 17 0.026 11 1 0 1 0 16.89 53010 chr1 94033042 94033042 G A rs148402464 BCAR3 Nonsynonymous SNV T374I 0.011 0.029 0 4 13 11 0.01 0 0 0 0 0 11.66 53011 chr16 814090 814090 C T rs201419641 MSLN Nonsynonymous SNV R83W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.15 53012 chr10 71025536 71025536 T G rs143913672 HKDC1 Synonymous SNV T856T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 5.949 53013 chr11 119181096 119181096 T G rs375856085 MCAM Nonsynonymous SNV Q625P 0.014 0.008 0 0 16 3 0 0 0 0 0 0 24.3 53014 chr10 71168778 71168778 A G rs144577707 TACR2 Nonsynonymous SNV F214S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 15.83 53015 chr11 103229010 103229010 G C DYNC2H1 Nonsynonymous SNV A4027P 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 22.9 53016 chr10 81109458 81109458 C T rs2233719 PPIF Synonymous SNV F88F 0.033 0.034 0.051 12 39 13 0.031 15 0 0 0 0 12.64 53017 chr11 13734555 13734555 T C rs12798176 FAR1 Synonymous SNV T310T 0.036 0.042 0.054 19 42 16 0.049 16 2 0 0 0 9.519 53018 chr11 1472605 1472605 G A rs3793971 BRSK2 Synonymous SNV P500P 0.013 0.013 0.01 2 15 5 0.005 3 0 0 0 0 9.515 53019 chr11 1017273 1017273 A G rs200476918 MUC6 Nonsynonymous SNV F1843S 0.008 0.013 0.041 4 9 5 0.01 12 0 0 0 0 10.76 53020 chr11 1017277 1017277 A G rs111373859 MUC6 Nonsynonymous SNV S1842P 0.009 0.013 0.041 4 10 5 0.01 12 0 0 0 0 0.001 53021 chr10 81702538 81702538 C T rs17885228 SFTPD Synonymous SNV K99K 0.026 0.029 0.037 15 30 11 0.038 11 0 0 0 0 Benign 13.93 53022 chr16 84182715 84182715 C T rs61743547 DNAAF1 Synonymous SNV H76H 0.023 0.021 0.041 10 27 8 0.026 12 0 0 0 0 Benign/Likely benign 5.029 53023 chr1 118530796 118530796 C T rs12040811 SPAG17 Synonymous SNV Q1851Q 0.08 0.076 0.041 36 94 29 0.092 12 5 0 0 1 7.902 53024 chr1 118537074 118537074 A G rs12031260 SPAG17 Synonymous SNV P1711P 0.079 0.073 0.041 36 93 28 0.092 12 4 0 0 1 8.403 53025 chr1 118624123 118624123 C T rs2298176 SPAG17 Synonymous SNV P635P 0.079 0.073 0.041 36 93 28 0.092 12 4 0 0 1 11.44 53026 chr1 118629599 118629599 G A rs12142616 SPAG17 Synonymous SNV P464P 0.078 0.073 0.041 34 92 28 0.087 12 4 0 0 1 8.928 53027 chr1 109801121 109801121 C T rs684138 CELSR2 Synonymous SNV T1126T 0.087 0.076 0.095 33 102 29 0.085 28 5 1 0 2 10.92 53028 chr1 109806313 109806313 T C rs653635 CELSR2 Nonsynonymous SNV Y1639H 0.088 0.076 0.095 34 103 29 0.087 28 5 1 0 1 15.83 53029 chr1 118657952 118657952 C T rs12133381 SPAG17 Nonsynonymous SNV R143Q 0.074 0.073 0.041 35 87 28 0.09 12 2 0 0 1 22.5 53030 chr1 109816189 109816189 C T rs41279720 CELSR2 Nonsynonymous SNV R2881C 0.026 0.031 0.027 8 30 12 0.021 8 0 1 0 0 27.5 53031 chr11 122659918 122659918 T G rs955051 UBASH3B Synonymous SNV G259G 0.211 0.201 0.207 87 248 77 0.223 61 17 10 10 10 0.735 53032 chr1 108185301 108185301 C G rs12403266 VAV3 Nonsynonymous SNV Q58H 0.144 0.172 0.119 83 169 66 0.213 35 9 7 3 11 0.32 53033 chr1 108185309 108185309 G A rs12410676 VAV3 Nonsynonymous SNV P56S 0.139 0.167 0.112 82 163 64 0.21 33 7 7 2 11 0.086 53034 chr1 28477192 28477192 T C rs138629813 PTAFR Nonsynonymous SNV N114S 0.014 0.013 0.003 8 16 5 0.021 1 0 0 0 0 22.5 53035 chr16 84472787 84472787 C T rs62640931 ATP2C2 Synonymous SNV A183A 0.012 0.013 0.02 8 14 5 0.021 6 0 0 0 0 Benign 12.46 53036 chr11 107799426 107799426 C A rs77818165 RAB39A Synonymous SNV T44T 0.049 0.091 0.024 20 58 35 0.051 7 1 2 0 0 23 53037 chr1 110299691 110299691 G A rs11102001 EPS8L3 Nonsynonymous SNV P323S 0.064 0.073 0.071 26 75 28 0.067 21 3 0 1 1 13.41 53038 chr10 88416963 88416963 G A rs7901458 OPN4 Nonsynonymous SNV R101H 0.02 0.013 0.007 17 23 5 0.044 2 0 0 0 0 2.654 53039 chr1 109268441 109268441 G A rs11582005 FNDC7 Nonsynonymous SNV S309N 0.132 0.117 0.119 47 155 45 0.121 35 6 2 3 4 0.004 53040 chr10 88421041 88421041 C T rs7478092 OPN4 Synonymous SNV Y323Y 0.02 0.016 0.007 17 24 6 0.044 2 0 0 0 0 11 53041 chr16 84872329 84872329 C T CRISPLD2 Synonymous SNV N76N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 53042 chr11 17517220 17517220 A G rs200779709 USH1C Nonsynonymous SNV S851P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 53043 chr11 12379949 12379949 C T rs34898047 MICALCL Nonsynonymous SNV R671C 0.032 0.026 0.037 10 38 10 0.026 11 0 0 0 0 34 53044 chr16 86371037 86371037 G A rs61744045 LINC00917 0 0 0.099 0 0 0 0 29 0 0 1 0 1.689 53045 chr10 75185956 75185956 G A rs773350186 MSS51 Synonymous SNV L228L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.094 53046 chr10 75265315 75265315 G A rs117664956 PPP3CB-AS1 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 3.813 53047 chr16 86588993 86588993 T C rs3751796 FLJ30679 0 0 0.201 0 0 0 0 59 0 0 2 0 3.177 53048 chr16 87339390 87339390 C T rs61741503 C16orf95 Nonsynonymous SNV R151H 0.011 0.003 0.014 2 13 1 0.005 4 0 0 0 0 14.13 53049 chr10 91098877 91098877 G A rs34847428 IFIT3 Synonymous SNV A155A 0.012 0.013 0.024 3 14 5 0.008 7 0 0 0 0 12.57 53050 chr1 32674817 32674817 C T rs370188556 DCDC2B Synonymous SNV C41C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 10.9 53051 chr1 109878903 109878903 C G rs2228606 SORT1 Nonsynonymous SNV E307Q 0.03 0.018 0.017 11 35 7 0.028 5 0 0 0 1 12.85 53052 chr11 18254071 18254071 T A rs147763538 SAA2-SAA4, SAA4 Nonsynonymous SNV D34V 0.007 0.008 0 0 8 3 0 0 0 0 0 0 23.4 53053 chr11 1103876 1103876 C T rs41532344 MUC2 Synonymous SNV A2725A 0.051 0.039 0.051 26 60 15 0.067 15 0 0 0 2 12.56 53054 chr11 1104194 1104194 C T rs187442933 MUC2 Synonymous SNV T2795T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.91 53055 chr1 114380656 114380656 G C rs72650672 PTPN22 Nonsynonymous SNV Q401E 0.006 0.008 0.007 7 7 3 0.018 2 0 0 0 0 Likely benign 21.1 53056 chr1 114394689 114394689 C T rs33996649 PTPN22 Nonsynonymous SNV R239Q 0.02 0.021 0.02 7 23 8 0.018 6 1 0 0 0 15.77 53057 chr11 18735465 18735465 G A rs11024769 IGSF22 Nonsynonymous SNV L677F 0.009 0.013 0.014 8 10 5 0.021 4 0 0 0 0 2.649 53058 chr1 34011702 34011702 C T rs140218591 CSMD2 Nonsynonymous SNV R2868Q 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 27.4 53059 chr1 114439025 114439025 A G rs114201291 AP4B1 Synonymous SNV Y287Y 0.02 0.021 0.027 13 24 8 0.033 8 0 0 0 1 Benign/Likely benign 0.031 53060 chr10 94246992 94246992 C A rs35426658 IDE Synonymous SNV P500P 0.01 0.013 0.003 1 12 5 0.003 1 0 0 0 0 13.3 53061 chr10 94450061 94450061 G A rs113121942 HHEX Synonymous SNV T106T 0.011 0.016 0.007 3 13 6 0.008 2 0 0 0 0 13.57 53062 chr10 76867753 76867753 C G rs41280430 DUSP13 Nonsynonymous SNV G122R 0.037 0.026 0.02 20 43 10 0.051 6 0 1 0 0 22.6 53063 chr10 94757245 94757245 G A rs34159839 EXOC6 Synonymous SNV Q553Q 0.02 0.013 0.007 3 24 5 0.008 2 0 0 0 0 10.06 53064 chr1 115110764 115110764 C T rs757678095 BCAS2 Nonsynonymous SNV R222Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 53065 chr1 151506526 151506526 G A rs41272467 CGN Nonsynonymous SNV A940T 0.014 0.023 0.017 4 17 9 0.01 5 0 0 0 0 14.08 53066 chr11 124294213 124294213 C A rs61736181 OR8B4 Nonsynonymous SNV Q185H 0.029 0.021 0.041 8 34 8 0.021 12 0 0 2 0 25.5 53067 chr1 36788160 36788160 G A rs565642335 EVA1B Synonymous SNV D78D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.81 53068 chr11 124413265 124413265 A G rs200633098 OR8B12 Nonsynonymous SNV C96R 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 23.6 53069 chr16 88729788 88729788 C T rs3794628 SNAI3-AS1 0 0 0.02 0 0 0 0 6 0 0 1 0 4.736 53070 chr1 152057914 152057914 A G rs140803281 TCHHL1 Synonymous SNV D748D 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 Benign 0.042 53071 chr11 124742385 124742385 G A rs4935898 ROBO3 Nonsynonymous SNV V423M 0.043 0.049 0.034 21 51 19 0.054 10 2 0 0 1 Likely benign 23.9 53072 chr11 124746180 124746180 C T rs55706177 ROBO3 Nonsynonymous SNV P868L 0.054 0.06 0.041 30 63 23 0.077 12 2 0 0 4 Benign 22.3 53073 chr1 36940984 36940984 C T rs142999683 CSF3R Nonsynonymous SNV A119T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 34 53074 chr11 113570385 113570385 C T rs11601425 TMPRSS5 Nonsynonymous SNV R2Q 0.043 0.044 0.061 13 50 17 0.033 18 0 0 1 0 Benign 15.08 53075 chr11 124794712 124794712 C T rs74570840 HEPACAM Synonymous SNV Q113Q 0.026 0.021 0.02 8 31 8 0.021 6 0 0 0 0 Benign 9.012 53076 chr10 97698647 97698647 C A rs41291584 CC2D2B Nonsynonymous SNV P256T 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 18.81 53077 chr10 85956349 85956349 C T rs11593005 CDHR1 Synonymous SNV V80V 0.02 0.031 0.02 13 23 12 0.033 6 0 1 0 1 Conflicting interpretations of pathogenicity 13.36 53078 chr11 11374440 11374440 T C rs751470342 CSNK2A3 Nonsynonymous SNV K76R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.98 53079 chr1 38446315 38446315 C T rs143971922 SF3A3 Synonymous SNV G158G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 16.52 53080 chr1 115137144 115137144 A T rs773075931 DENND2C Nonsynonymous SNV I737N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.7 53081 chr10 99186098 99186098 G A PGAM1 Nonsynonymous SNV G12S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 53082 chr16 89017550 89017550 C G LOC100129697 Nonsynonymous SNV L342V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.472 53083 chr11 116629815 116629815 C T rs200301153 BUD13 Synonymous SNV Q311Q 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.6 53084 chr11 2168931 2168931 G A rs1006881751 INS-IGF2 Stop gain Q172X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 53085 chr1 116937809 116937809 A G rs77217304 ATP1A1 Nonsynonymous SNV I580V 0.038 0.021 0.051 10 45 8 0.026 15 1 0 0 0 1.352 53086 chr16 89234676 89234676 A G rs12597281 LINC02138 0 0 0.224 0 0 0 0 66 0 0 8 0 2.169 53087 chr16 89234948 89234948 C A rs12922670 LINC02138 0 0 0.099 0 0 0 0 29 0 0 1 0 7.348 53088 chr11 117063027 117063027 G T rs118183792 SIDT2 Nonsynonymous SNV A644S 0.014 0.016 0 7 17 6 0.018 0 0 0 0 0 17.14 53089 chr1 153303252 153303252 G A rs41310915 PGLYRP4 Synonymous SNV F371F 0.013 0.018 0.017 6 15 7 0.015 5 0 0 0 0 10.5 53090 chr1 145021150 145021150 T C rs11538401 PDE4DIP Nonsynonymous SNV D13G 0.017 0.036 0.02 11 20 14 0.028 6 0 0 0 0 27.5 53091 chr1 153923799 153923799 G A CRTC2 Synonymous SNV S447S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.122 53092 chr1 117618024 117618024 G C rs17036832 TTF2 Nonsynonymous SNV S273T 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 Benign 0.005 53093 chr1 145539008 145539008 G A ITGA10 Nonsynonymous SNV S840N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.74 53094 chr1 117637966 117637966 A G rs34079217 TTF2 Synonymous SNV Q1004Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.332 53095 chr11 117789242 117789242 C G rs3802870 TMPRSS13 Synonymous SNV S111S 0.024 0.021 0.037 10 28 8 0.026 11 0 0 0 0 10.16 53096 chr1 40704571 40704571 C T rs892063799 RLF Synonymous SNV S1399S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 11.15 53097 chr16 89352586 89352586 C T rs369870047 ANKRD11 Synonymous SNV K251K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.698 53098 chr16 89390790 89390790 G A LOC100287036 Nonsynonymous SNV A59T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.669 53099 chr1 145561116 145561116 G A rs11578772 ANKRD35 Synonymous SNV Q178Q 0.037 0.055 0.065 24 43 21 0.062 19 1 0 1 0 0.002 53100 chr1 117660820 117660820 C T rs34863850 TRIM45 Nonsynonymous SNV R353Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 32 53101 chr11 100999579 100999579 G T rs147067970 PGR Nonsynonymous SNV Q75K 0.002 0 0.003 5 2 0 0.013 1 0 0 0 0 Likely benign 4.437 53102 chr16 89965022 89965022 G A rs77077602 TCF25 Synonymous SNV P360P 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 12.33 53103 chr16 89965023 89965023 C A rs144328773 TCF25 Nonsynonymous SNV R361S 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 34 53104 chr11 107393090 107393090 A C rs914480436 ALKBH8 Nonsynonymous SNV S411A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.661 53105 chr16 90095561 90095561 C T rs3785183 GAS8-AS1 0 0 0.371 0 0 0 0 109 0 0 21 0 1.618 53106 chr1 147092112 147092112 G A rs61754125 BCL9 Synonymous SNV K717K 0.025 0.018 0.014 12 29 7 0.031 4 0 0 1 0 7.462 53107 chr16 90095597 90095597 - GGGGCAGCCTACGGGGCAGGCTGC rs71137702 GAS8-AS1 0 0 0.439 0 0 0 0 129 0 0 31 0 53108 chr1 41483139 41483139 T G rs143876138 SLFNL1-AS1 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 5.949 53109 chr10 92678728 92678728 G A rs142354133 ANKRD1 Nonsynonymous SNV T116M 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.3 53110 chr1 120468425 120468425 G A rs17024525 NOTCH2 Synonymous SNV S1338S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 1.911 53111 chr1 154904840 154904840 T C rs1891805 PMVK Nonsynonymous SNV N14S 0.07 0.083 0.088 33 82 32 0.085 26 3 2 0 0 1.958 53112 chr10 94294385 94294385 G A IDE Synonymous SNV T147T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.46 53113 chr1 120483280 120483280 A G NOTCH2 Synonymous SNV N1027N 0.003 0 0 0 3 0 0 0 0 0 0 0 8.724 53114 chr1 42046491 42046491 A G rs35624100 HIVEP3 Synonymous SNV N1326N 0.01 0.01 0.01 2 12 4 0.005 3 0 0 0 0 0.002 53115 chr11 119045915 119045915 C T rs772019341 NLRX1 Synonymous SNV L535L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.759 53116 chr10 95347041 95347041 G A rs116454156 FFAR4 Nonsynonymous SNV R254H 0.014 0.023 0.01 9 16 9 0.023 3 0 0 1 0 risk factor 23.2 53117 chr11 1260252 1260252 C T rs78681629 MUC5B Nonsynonymous SNV T1150I 0.017 0.021 0 8 20 8 0.021 0 0 0 0 0 12.1 53118 chr11 126075384 126075384 C T rs200634474 RPUSD4 Nonsynonymous SNV V228M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.016 53119 chr1 43201576 43201576 C T rs116804195 CLDN19 Nonsynonymous SNV G172S 0.02 0.018 0.02 5 23 7 0.013 6 0 0 0 0 Benign 22.9 53120 chr1 151115007 151115007 G A rs35817752 SEMA6C Nonsynonymous SNV L31F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 12.57 53121 chr11 126276006 126276006 C T rs190884962 ST3GAL4 Nonsynonymous SNV R7W 0.006 0 0 0 7 0 0 0 0 0 0 0 20.3 53122 chr1 151498143 151498143 G A rs142913144 CGN Nonsynonymous SNV R547K 0.009 0.018 0 10 11 7 0.026 0 0 0 0 0 Benign 17.01 53123 chr17 12639568 12639568 G A rs148826320 MYOCD Nonsynonymous SNV S169N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 53124 chr17 12820632 12820632 A C rs12451747 MIR1269B 0 0 0.517 0 0 0 0 152 0 0 42 0 0.044 53125 chr11 27720937 27720937 C T rs66866077 BDNF Nonsynonymous SNV E6K 0.044 0.029 0.044 20 52 11 0.051 13 2 1 0 1 Benign 12.28 53126 chr1 149871905 149871905 G C rs1044808 BOLA1 Nonsynonymous SNV G98A 0.038 0.044 0.041 22 45 17 0.056 12 1 0 0 0 0.477 53127 chr11 28110163 28110163 C T rs375670952 KIF18A Nonsynonymous SNV G269S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.01 53128 chr1 149906167 149906167 T G rs41302101 MTMR11 Nonsynonymous SNV E128D 0.049 0.055 0.058 20 58 21 0.051 17 2 1 0 0 23.3 53129 chr11 130275572 130275572 C T rs199626173 ADAMTS8 Nonsynonymous SNV G851S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 53130 chr1 149916106 149916106 C T rs201225347 OTUD7B Nonsynonymous SNV A728T 0.003 0 0 0 3 0 0 0 0 0 0 0 28.6 53131 chr11 112050057 112050057 C G rs35361223 BCO2 Nonsynonymous SNV R15G 0.016 0.016 0.024 10 19 6 0.026 7 0 0 1 0 8.445 53132 chr1 150337289 150337289 G T rs72696841 RPRD2 Synonymous SNV S33S 0.092 0.099 0.068 32 108 38 0.082 20 6 3 1 0 11.36 53133 chr17 15973774 15973774 T G rs61753150 NCOR1 Nonsynonymous SNV L1422F 0.003 0.016 0.007 2 4 6 0.005 2 0 0 0 0 Benign 25.2 53134 chr1 150429944 150429944 A G rs41273537 RPRD2 Nonsynonymous SNV M325V 0.092 0.099 0.068 32 108 38 0.082 20 6 3 1 0 0.001 53135 chr1 150477156 150477156 C A TARS2 Synonymous SNV L459L 0.003 0 0 0 3 0 0 0 0 0 0 0 19.39 53136 chr11 12241903 12241903 G A rs147143035 MICAL2 Nonsynonymous SNV M368I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 53137 chr17 16327072 16327072 C T rs769919734 TRPV2 Synonymous SNV G305G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 53138 chr11 12261007 12261007 T C rs61733868 MICAL2 Synonymous SNV L697L 0.026 0.029 0.037 9 30 11 0.023 11 0 1 0 0 0.05 53139 chr1 152636671 152636671 C T rs28576017 LCE2D Synonymous SNV P30P 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 4.913 53140 chr1 44603577 44603577 C T rs142282113 KLF18 Synonymous SNV L1025L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 6.826 53141 chr1 152648707 152648707 C A rs12074920 LCE2C Synonymous SNV S72S 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 9.81 53142 chr1 44818529 44818529 T C rs747247749 ERI3 Synonymous SNV V68V 0.006 0.005 0 0 7 2 0 0 0 0 0 0 8.152 53143 chr1 152671436 152671436 G A rs58733562 LCE2A Nonsynonymous SNV C20Y 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 12.73 53144 chr11 122805431 122805431 A G rs147942957 JHY Nonsynonymous SNV R390G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.165 53145 chr1 152681560 152681560 C A rs147765240 LCE4A Stop gain C3X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 53146 chr11 101762013 101762013 T C rs77442670 ANGPTL5 Synonymous SNV K388K 0.042 0.029 0.048 17 49 11 0.044 14 1 0 0 0 0.312 53147 chr17 16828650 16828650 A G rs62065424 TBC1D27P 0 0 0.041 0 0 0 0 12 0 0 4 0 0.68 53148 chr17 16832577 16832577 A G rs3794774 TBC1D27P 0 0 0.228 0 0 0 0 67 0 0 18 0 0.051 53149 chr17 16893462 16893462 T C rs9889250 LINC02090 0 0 0.099 0 0 0 0 29 0 0 1 0 2.244 53150 chr11 113699955 113699955 A C rs61760221 USP28 Synonymous SNV L8L 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 0.026 53151 chr1 151282707 151282707 T C rs762969703 PI4KB Nonsynonymous SNV I312V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.732 53152 chr1 152785261 152785261 C G rs76754774 LCE1B Nonsynonymous SNV H113Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.39 53153 chr17 17069585 17069585 G A rs943080588 MPRIP Synonymous SNV E1592E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 53154 chr1 152883620 152883620 G A rs61731340 IVL Synonymous SNV Q449Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.035 53155 chr1 152883621 152883621 T A rs116373638 IVL Nonsynonymous SNV L450M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 13.46 53156 chr1 46874247 46874247 G A rs45476901 FAAH Synonymous SNV A356A 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 15.83 53157 chr17 17697738 17697738 C T rs200887225 RAI1 Synonymous SNV P492P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.689 53158 chr1 46978076 46978076 C A rs11211298 DMBX1 Synonymous SNV T353T 0.02 0.016 0.014 5 23 6 0.013 4 0 0 0 0 16.25 53159 chr1 47028362 47028362 C T rs55791614 MKNK1 Nonsynonymous SNV D255N 0.014 0.008 0.003 0 17 3 0 1 0 0 0 0 23.1 53160 chr1 152195729 152195730 TT - rs561299511 HRNR Star tloss M1? 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 53161 chr1 153085151 153085151 G A rs115474664 SPRR2F Nonsynonymous SNV A20V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.459 53162 chr17 18052157 18052157 G A rs776576057 MYO15A Nonsynonymous SNV V2283M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 53163 chr1 153085152 153085152 C T rs151137674 SPRR2F Nonsynonymous SNV A20T 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 7.865 53164 chr11 1018187 1018187 G T rs796905108 MUC6 Synonymous SNV T1538T 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 0.829 53165 chr11 1018191 1018191 A G rs796499929 MUC6 Nonsynonymous SNV V1537A 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 0.122 53166 chr1 153745128 153745128 G C rs6663011 INTS3 Synonymous SNV T945T 0.11 0.099 0.112 47 129 38 0.121 33 6 4 0 0 12.05 53167 chr1 153748219 153748219 C T rs36064263 SLC27A3 Synonymous SNV T82T 0.109 0.096 0.095 46 128 37 0.118 28 6 4 0 0 13.23 53168 chr1 153748242 153748242 G A rs139923577 SLC27A3 Nonsynonymous SNV R90H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21 53169 chr1 153946450 153946450 A G rs78109101 CREB3L4 Nonsynonymous SNV N366S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.03 53170 chr11 36057669 36057669 C A rs149080200 LDLRAD3 Synonymous SNV P21P 0.003 0.018 0.003 3 4 7 0.008 1 0 0 0 0 Likely benign 13.55 53171 chr1 153954646 153954646 C T rs2230324 RAB13 Nonsynonymous SNV G100S 0.018 0.013 0.007 11 21 5 0.028 2 0 0 0 0 14.5 53172 chr11 17531146 17531146 G A rs17776775 USH1C Synonymous SNV A590A 0.069 0.042 0.058 32 81 16 0.082 17 6 0 1 2 Benign 1.071 53173 chr11 1016978 1016978 T A rs76461263 MUC6 Nonsynonymous SNV K1941N 0.026 0.021 0.078 7 31 8 0.018 23 0 0 0 0 0.001 53174 chr11 1016995 1016995 T C rs772715258 MUC6 Nonsynonymous SNV T1936A 0.032 0.016 0.02 12 37 6 0.031 6 0 0 0 0 13.05 53175 chr11 1774757 1774757 G T rs138733377 CTSD Synonymous SNV G405G 0.019 0.018 0.01 7 22 7 0.018 3 0 0 0 0 Benign 6.536 53176 chr11 1017044 1017044 A C rs199728912 MUC6 Synonymous SNV P1919P 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.003 53177 chr11 124135516 124135516 A C rs141463061 OR8G5 Nonsynonymous SNV Y265S 0.02 0.008 0.034 3 23 3 0.008 10 1 0 0 0 0.01 53178 chr11 3685325 3685325 T C rs147582309 ART1 Nonsynonymous SNV M297T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.002 53179 chr1 153631943 153631943 G A rs8532 SNAPIN Synonymous SNV E70E 0.032 0.023 0.034 14 37 9 0.036 10 0 0 0 0 11.72 53180 chr1 52854179 52854179 A G rs61756136 ORC1 Nonsynonymous SNV S440P 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 Uncertain significance 10.71 53181 chr17 19646750 19646750 C T rs59102760 ALDH3A1 Synonymous SNV E63E 0.043 0.042 0.027 20 51 16 0.051 8 2 0 0 1 12.03 53182 chr11 18303533 18303533 G A rs61884288 HPS5 Nonsynonymous SNV T984I 0.032 0.036 0.034 10 37 14 0.026 10 0 1 0 0 Benign 18.61 53183 chr11 392634 392634 T C rs111447834 PKP3 Nonsynonymous SNV S3P 0.006 0.01 0.003 10 7 4 0.026 1 0 0 0 0 2.068 53184 chr17 1985191 1985191 G A rs143629359 SMG6 Synonymous SNV G109G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 13.84 53185 chr11 403764 403764 C T rs113114984 PKP3 Synonymous SNV D690D 0.01 0.023 0.02 8 12 9 0.021 6 0 1 1 0 13.89 53186 chr1 154934665 154934665 C T rs7528548 LOC101928120 Synonymous SNV L193L 0.05 0.06 0 28 59 23 0.072 0 2 1 0 0 10.09 53187 chr11 406954 406954 G A rs112731199 SIGIRR Synonymous SNV P256P 0.01 0.023 0.014 8 12 9 0.021 4 0 1 1 0 13.59 53188 chr11 102248377 102248377 C T rs34510872 BIRC2 Nonsynonymous SNV A506V 0.103 0.094 0.095 52 121 36 0.133 28 8 2 0 2 23.3 53189 chr11 118769604 118769604 C T rs61751532 BCL9L Synonymous SNV Q1340Q 0.029 0.029 0.02 13 34 11 0.033 6 1 0 0 0 Benign 10.8 53190 chr1 155263331 155263331 G A rs772465237 PKLR Synonymous SNV S389S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 11.3 53191 chr11 43464976 43464976 G A rs376602366 TTC17 Nonsynonymous SNV A785T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 53192 chr11 18740268 18740268 C T rs74743312 IGSF22 Nonsynonymous SNV R235Q 0.014 0.018 0.003 3 16 7 0.008 1 0 0 0 0 21.9 53193 chr11 43465025 43465025 G A rs533471959 TTC17 Nonsynonymous SNV R801H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 53194 chr11 44636833 44636833 G A rs2303865 CD82 Synonymous SNV E91E 0.149 0.13 0.194 60 175 50 0.154 57 18 3 7 4 14.02 53195 chr1 54661254 54661254 C T rs149914770 CYB5RL Synonymous SNV E12E 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 13.3 53196 chr11 102650042 102650042 A G rs144660356 MMP10 Nonsynonymous SNV I133T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.8 53197 chr11 125495839 125495839 A G CHEK1 Nonsynonymous SNV T62A 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 15.07 53198 chr11 19955194 19955194 G C rs16937251 NAV2 Nonsynonymous SNV Q404H 0.025 0.023 0.031 9 29 9 0.023 9 2 0 0 0 23 53199 chr11 45277280 45277280 G A SYT13 Nonsynonymous SNV P116S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.696 53200 chr11 103040882 103040882 T C DYNC2H1 Nonsynonymous SNV Y1672H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.4 53201 chr11 46886077 46886077 A T rs117936904 LRP4 Nonsynonymous SNV L1722H 0.032 0.034 0.017 16 38 13 0.041 5 0 0 0 0 Benign/Likely benign 29.4 53202 chr11 46916179 46916179 T G rs72897663 LRP4 Nonsynonymous SNV N501H 0.072 0.076 0.071 30 85 29 0.077 21 2 0 0 0 Benign/Likely benign 21.2 53203 chr11 4703430 4703430 T C rs200790172 OR51E2 Nonsynonymous SNV N171S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.28 53204 chr1 55572991 55572991 C T rs61760214 USP24 Synonymous SNV A1561A 0.039 0.044 0.003 11 46 17 0.028 1 3 0 0 0 Benign 18.6 53205 chr1 55643658 55643658 T C rs186427081 USP24 Nonsynonymous SNV T158A 0.021 0.021 0.003 7 25 8 0.018 1 3 0 0 0 Benign 15.89 53206 chr11 47358997 47358997 G A rs3729953 MYBPC3 Synonymous SNV V849V 0.032 0.036 0.031 13 37 14 0.033 9 0 0 0 0 Benign 12.52 53207 chr1 156504520 156504520 G A rs1003099016 IQGAP3 Synonymous SNV V1171V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.24 53208 chr11 125889526 125889526 C T rs3740909 CDON Nonsynonymous SNV E162K 0.063 0.063 0.037 34 74 24 0.087 11 0 2 0 2 Benign 20.6 53209 chr11 121393684 121393684 G A rs2298813 SORL1 Nonsynonymous SNV A528T 0.027 0.034 0.048 13 32 13 0.033 14 0 0 2 0 26.5 53210 chr11 47505981 47505981 T C CELF1 Synonymous SNV E135E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.666 53211 chr1 156843439 156843439 C A rs137979116 NTRK1 Nonsynonymous SNV Q289K 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.915 53212 chr17 26574820 26574820 G A rs61141479 PPY2P 0 0 0.075 0 0 0 0 22 0 0 0 0 4.592 53213 chr1 167865871 167865871 G A rs16859886 ADCY10 Nonsynonymous SNV T81M 0.098 0.115 0.092 40 115 44 0.103 27 6 3 1 1 10.42 53214 chr11 47767773 47767773 T C rs184083336 FNBP4 Synonymous SNV T362T 0.023 0.026 0.02 9 27 10 0.023 6 0 0 0 0 Benign 4.294 53215 chr1 157497597 157497597 C T rs73011545 FCRL5 Synonymous SNV P590P 0.011 0.01 0.017 4 13 4 0.01 5 0 0 0 0 9.382 53216 chr11 108099999 108099999 A G rs864622758 ATM Nonsynonymous SNV M94V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 15.09 53217 chr1 157803125 157803125 T C rs1021217912 CD5L Nonsynonymous SNV K299R 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.028 53218 chr1 158299756 158299756 G A rs62642467 CD1B Synonymous SNV L165L 0.014 0.013 0.017 8 17 5 0.021 5 1 0 0 0 1.385 53219 chr11 126278203 126278203 T C rs2298475 ST3GAL4 Synonymous SNV L146L 0.073 0.086 0.078 29 86 33 0.074 23 2 3 0 1 Benign 2.393 53220 chr17 27308729 27308729 C T rs61737976 SEZ6 Synonymous SNV A128A 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 10.84 53221 chr11 2434731 2434731 C T rs149949624 TRPM5 Nonsynonymous SNV V660I 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 0.006 53222 chr11 108384661 108384661 C A rs12146448 EXPH5 Nonsynonymous SNV V337F 0.049 0.036 0.037 16 57 14 0.041 11 2 0 0 1 21.1 53223 chr11 108385251 108385251 C T rs11212684 EXPH5 Nonsynonymous SNV R140Q 0.049 0.036 0.037 16 57 14 0.041 11 2 0 0 1 11.62 53224 chr1 156883242 156883242 G A rs55864969 PEAR1 Synonymous SNV G857G 0.012 0.003 0.003 6 14 1 0.015 1 1 0 0 0 10.82 53225 chr1 62672889 62672889 A G rs142530179 L1TD1 Nonsynonymous SNV R197G 0.011 0.013 0.007 6 13 5 0.015 2 0 0 0 0 0.136 53226 chr1 158045965 158045965 G A rs191487619 KIRREL1 Nonsynonymous SNV V39M 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 25.1 53227 chr1 158263066 158263066 C A rs36012320 CD1C Synonymous SNV V318V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 9.278 53228 chr1 158368392 158368392 C T rs61818748 OR10T2 Nonsynonymous SNV V289I 0.098 0.078 0.088 32 115 30 0.082 26 4 1 2 1 16.48 53229 chr1 158549029 158549029 A C rs140204457 OR10X1 Nonsynonymous SNV S221A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.18 53230 chr11 128843131 128843131 C T rs141213420 ARHGAP32 Synonymous SNV A727A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.03 53231 chr11 128844298 128844298 G A rs766006286 ARHGAP32 Nonsynonymous SNV R569W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 53232 chr11 25098911 25098911 C T rs116821457 LUZP2 Nonsynonymous SNV P257S 0.051 0.055 0.068 16 60 21 0.041 20 2 0 4 0 0.007 53233 chr11 111431006 111431006 C T rs150801225 LAYN Synonymous SNV P171P 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 8.293 53234 chr1 158624528 158624528 G T rs35948326 SPTA1 Nonsynonymous SNV A970D 0.044 0.044 0.034 17 52 17 0.044 10 1 0 0 0 Benign/Likely benign 24.4 53235 chr1 158631192 158631192 G A rs35856400 SPTA1 Synonymous SNV D824D 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign/Likely benign 7.45 53236 chr1 158639300 158639300 C A rs34211240 SPTA1 Nonsynonymous SNV L577F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.03 53237 chr1 158644397 158644397 T C rs111834376 SPTA1 Nonsynonymous SNV N394S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.94 53238 chr11 124096214 124096214 C G OR8G2P Nonsynonymous SNV L273V 0.004 0 0 0 5 0 0 0 0 0 0 0 16 53239 chr1 158669980 158669980 G A rs111363268 OR6K2 Nonsynonymous SNV P155S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 17.7 53240 chr1 158724722 158724722 G C rs16840974 OR6K6 Nonsynonymous SNV E39D 0.005 0.01 0 0 6 4 0 0 0 0 0 0 23.8 53241 chr1 158724750 158724750 C T rs16840976 OR6K6 Nonsynonymous SNV H49Y 0.005 0.013 0 0 6 5 0 0 0 0 0 0 0.032 53242 chr1 158724844 158724844 G A rs16840980 OR6K6 Nonsynonymous SNV G80D 0.005 0.013 0 0 6 5 0 0 0 0 0 0 1.127 53243 chr1 169824104 169824104 G A rs12135726 SCYL3 Synonymous SNV G438G 0.101 0.091 0.105 34 119 35 0.087 31 5 3 1 1 5.814 53244 chr11 113101937 113101937 G A rs143883407 NCAM1 Stop gain W370X 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 11 53245 chr1 158724965 158724965 T C rs16840986 OR6K6 Synonymous SNV I120I 0.005 0.013 0 0 6 5 0 0 0 0 0 0 0.091 53246 chr1 158724988 158724988 A G rs74122455 OR6K6 Nonsynonymous SNV Q128R 0.005 0.013 0 0 6 5 0 0 0 0 0 0 25 53247 chr1 158725006 158725006 C T rs16840991 OR6K6 Nonsynonymous SNV S134L 0.005 0.013 0 0 6 5 0 0 0 0 0 0 24.1 53248 chr1 158725194 158725194 T C rs16841009 OR6K6 Nonsynonymous SNV C197R 0.005 0.013 0 0 6 5 0 0 0 0 0 0 25 53249 chr1 158725237 158725237 C T rs16841017 OR6K6 Nonsynonymous SNV P211L 0.005 0.013 0 0 6 5 0 0 0 0 0 0 24.6 53250 chr1 158725269 158725269 C T rs74122456 OR6K6 Synonymous SNV L222L 0.005 0.013 0 0 6 5 0 0 0 0 0 0 8.6 53251 chr1 158725301 158725301 G A rs16841025 OR6K6 Synonymous SNV A232A 0.005 0.013 0 0 6 5 0 0 0 0 0 0 0.934 53252 chr1 158725310 158725310 A T rs16841033 OR6K6 Synonymous SNV V235V 0.005 0.013 0 0 6 5 0 0 0 0 0 0 0.002 53253 chr1 158725345 158725345 G A rs16841038 OR6K6 Nonsynonymous SNV R247Q 0.005 0.013 0 0 6 5 0 0 0 0 0 0 16.25 53254 chr1 158725564 158725564 A G rs16841045 OR6K6 Nonsynonymous SNV K320R 0.005 0.013 0 0 6 5 0 0 0 0 0 0 7.441 53255 chr17 33875284 33875284 G A rs9907259 SLFN14 Nonsynonymous SNV L905F 0.091 0.083 0.078 41 107 32 0.105 23 3 0 0 4 19.6 53256 chr17 33880499 33880499 - A rs36064799 LOC107985033 0.051 0.049 0.078 28 60 19 0.072 23 2 2 0 4 53257 chr17 33881770 33881772 AAA - rs10578465 LOC107985033 0.028 0.013 0.354 15 33 5 0.038 104 16 2 28 7 53258 chr11 10521749 10521749 C T rs114718879 AMPD3 Synonymous SNV Y399Y 0.036 0.052 0.048 10 42 20 0.026 14 1 0 0 0 Likely benign 11.26 53259 chr17 33998904 33998904 T C rs17670584 AP2B1 Synonymous SNV Y707Y 0.13 0.115 0.088 52 153 44 0.133 26 12 0 1 6 0.029 53260 chr11 17118730 17118730 A G rs113662142 PIK3C2A Synonymous SNV G1020G 0.014 0.021 0.02 8 16 8 0.021 6 0 1 0 0 6.049 53261 chr17 34310702 34310702 A G rs41341749 CCL15-CCL14 0.032 0.031 0.109 16 38 12 0.041 32 2 1 1 2 5.456 53262 chr11 113803666 113803666 G A rs17116138 HTR3B Nonsynonymous SNV V172I 0.016 0.013 0.027 4 19 5 0.01 8 0 0 0 0 9.661 53263 chr1 160011512 160011512 G A rs1130183 KCNJ10 Nonsynonymous SNV R271C 0.02 0.018 0.024 12 23 7 0.031 7 0 0 0 0 Benign/Likely benign 29.8 53264 chr11 32781773 32781773 T C rs117530589 CCDC73 Nonsynonymous SNV N6S 0.015 0.005 0.007 3 18 2 0.008 2 1 0 0 0 3.521 53265 chr17 34884029 34884029 T C rs61738887 MYO19 Nonsynonymous SNV N6S 0.025 0.01 0.024 14 29 4 0.036 7 0 0 0 0 10.75 53266 chr17 3495374 3495374 G A rs222749 TRPV1 Nonsynonymous SNV P91S 0.031 0.047 0.041 8 36 18 0.021 12 1 0 0 1 12.61 53267 chr11 32954887 32954887 A G rs763910469 QSER1 Nonsynonymous SNV M695V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.153 53268 chr1 160323977 160323977 A T rs143039637 NCSTN Nonsynonymous SNV N279Y 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 23.4 53269 chr1 175048734 175048734 G A rs61744341 TNN Synonymous SNV S225S 0.017 0.013 0.01 6 20 5 0.015 3 0 0 0 0 5.922 53270 chr17 3526637 3526637 C T rs150857 SHPK Nonsynonymous SNV E215K 0.076 0.094 0.099 26 89 36 0.067 29 5 3 2 1 23.4 53271 chr1 75037007 75037007 C G rs12131196 ERICH3 Nonsynonymous SNV D1463H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 53272 chr1 160580549 160580549 G T rs3796504 SLAMF1 Nonsynonymous SNV P333T 0.102 0.112 0.088 51 120 43 0.131 26 3 5 1 3 27.2 53273 chr11 33565518 33565518 C G rs146549664 KIAA1549L Synonymous SNV P803P 0.015 0.026 0.024 10 18 10 0.026 7 0 0 0 0 0.358 53274 chr11 33566584 33566584 A G rs754158503 KIAA1549L Synonymous SNV T1015T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.014 53275 chr11 116708092 116708092 C T rs368534370 APOA1 Synonymous SNV A4A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.42 53276 chr11 117186506 117186506 G A rs28917234 BACE1 Synonymous SNV A2A 0.007 0.008 0.027 3 8 3 0.008 8 1 1 0 0 9.898 53277 chr1 161167989 161167989 G A rs12740751 ADAMTS4 Synonymous SNV H143H 0.026 0.031 0.037 11 31 12 0.028 11 0 0 0 0 1.887 53278 chr11 17667139 17667139 G C rs61997203 OTOG Nonsynonymous SNV K2842N 0.036 0.039 0.014 17 42 15 0.044 4 1 0 0 0 Benign/Likely benign 27.2 53279 chr17 36718301 36718301 G A rs147420193 SRCIN1 Synonymous SNV S366S 0.014 0.018 0.01 8 17 7 0.021 3 0 0 0 0 12.69 53280 chr1 161693199 161693199 C T rs35002732 FCRLB Nonsynonymous SNV T25I 0.028 0.023 0.068 20 33 9 0.051 20 0 0 0 0 28 53281 chr11 18044410 18044410 A G rs56151798 TPH1 Synonymous SNV L365L 0.014 0.008 0.01 8 17 3 0.021 3 0 0 0 0 Benign 9.374 53282 chr11 1260248 1260248 G A MUC5B Nonsynonymous SNV D1149N 0.025 0.026 0 12 29 10 0.031 0 0 0 0 0 10.61 53283 chr11 18102014 18102014 G A rs35394666 SAAL1 Nonsynonymous SNV R453C 0.033 0.052 0.034 11 39 20 0.028 10 4 0 0 0 16.67 53284 chr11 1260249 1260249 A G rs77875446 MUC5B Nonsynonymous SNV D1149G 0.02 0.026 0 7 23 10 0.018 0 0 0 0 0 9.34 53285 chr1 161761203 161761203 G A rs141465868 ATF6 Synonymous SNV E120E 0.012 0.018 0.007 14 14 7 0.036 2 0 0 0 0 Benign 11.55 53286 chr1 85624661 85624661 A G rs74980814 SYDE2 Synonymous SNV D1119D 0.034 0.021 0.037 15 40 8 0.038 11 1 0 0 0 0.013 53287 chr1 162344186 162344186 C T rs150773743 SPATA46 Synonymous SNV E146E 0.017 0.008 0.007 10 20 3 0.026 2 0 0 0 0 8.799 53288 chr1 85634892 85634892 A G rs61752463 SYDE2 Synonymous SNV Y896Y 0.034 0.021 0.037 15 40 8 0.038 11 1 0 0 0 0.321 53289 chr1 85647868 85647868 T C rs17122989 SYDE2 Synonymous SNV Q819Q 0.034 0.021 0.037 15 40 8 0.038 11 1 0 0 0 0.009 53290 chr1 85655931 85655931 C T rs61756695 SYDE2 Nonsynonymous SNV R417Q 0.034 0.021 0.037 15 40 8 0.038 11 1 0 0 0 0.004 53291 chr11 118402869 118402869 G C rs35915434 TMEM25 Nonsynonymous SNV W25C 0.007 0.01 0.027 10 8 4 0.026 8 0 0 0 1 14.65 53292 chr1 86249206 86249206 T C rs7520146 COL24A1 Synonymous SNV S719S 0.037 0.057 0.048 24 43 22 0.062 14 2 1 0 1 8.579 53293 chr1 165532746 165532746 T A rs17407838 LRRC52 Nonsynonymous SNV D209E 0.061 0.083 0.075 21 72 32 0.054 22 3 3 0 1 0.001 53294 chr11 3681054 3681054 G A rs2280133 ART1 Nonsynonymous SNV R102H 0.012 0.021 0.017 7 14 8 0.018 5 0 0 0 0 3.255 53295 chr11 118764497 118764497 A C rs202087123 CXCR5 Nonsynonymous SNV T37P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 19 53296 chr1 167042762 167042762 C T rs2274531 GPA33 Nonsynonymous SNV D20N 0.068 0.052 0.061 23 80 20 0.059 18 5 0 1 2 0.003 53297 chr11 118881481 118881481 A G rs199859594 CCDC84 Nonsynonymous SNV K131E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.85 53298 chr17 3844345 3844345 G A rs9895012 ATP2A3 Nonsynonymous SNV R674C 0.037 0.044 0.014 23 43 17 0.059 4 2 0 0 1 Likely benign 19.81 53299 chr1 167830144 167830144 A G ADCY10 Nonsynonymous SNV F439L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.434 53300 chr11 13032055 13032055 C A rs200457508 RASSF10 Nonsynonymous SNV A311D 0.02 0.026 0.017 4 23 10 0.01 5 0 1 0 0 2.261 53301 chr11 397218 397218 G A rs200871031 PKP3 Synonymous SNV P239P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.582 53302 chr17 38786990 38786990 C T rs767569116 SMARCE1 Nonsynonymous SNV D335N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.8 53303 chr1 167871265 167871265 A G ADCY10 Nonsynonymous SNV L94P 0 0 0 3 0 0 0.008 0 0 0 0 0 28.5 53304 chr11 130340962 130340962 A G rs11222114 ADAMTS15 Nonsynonymous SNV N623S 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 15.74 53305 chr11 119213319 119213319 C A rs145881139 MFRP Nonsynonymous SNV L458F 0.018 0.021 0.017 3 21 8 0.008 5 1 0 0 0 Benign/Likely benign 23.5 53306 chr11 18956124 18956124 C T rs567589026 MRGPRX1 Nonsynonymous SNV A70T 0.01 0.01 0 4 12 4 0.01 0 0 0 0 0 1.698 53307 chr1 87031656 87031656 A C rs2231592 CLCA4 Nonsynonymous SNV S303R 0.021 0.021 0.01 7 25 8 0.018 3 0 0 0 0 3.887 53308 chr11 113258787 113258787 G A rs181883517 ANKK1 Nonsynonymous SNV A61T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.089 53309 chr17 38975470 38975470 T C rs189586291 TMEM99 0 0 0.007 0 0 0 0 2 0 0 0 0 4.478 53310 chr1 182555149 182555149 C A rs74315364 RNASEL Stop gain E265X 0.013 0.005 0.007 0 15 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 35 53311 chr11 134062764 134062764 C T rs12292394 NCAPD3 Nonsynonymous SNV R484Q 0.031 0.044 0.054 9 36 17 0.023 16 1 1 0 0 0.002 53312 chr1 182555767 182555767 C T rs151296858 RNASEL Nonsynonymous SNV G59S 0.013 0.005 0.007 0 15 2 0 2 0 0 0 0 Likely benign 25.3 53313 chr1 182569627 182569627 G A rs140444624 RGS16 Nonsynonymous SNV H137Y 0.002 0 0 0 2 0 0 0 0 0 0 0 18.58 53314 chr11 4388820 4388820 A G rs188379419 OR52B4 Nonsynonymous SNV C236R 0.017 0.008 0.014 5 20 3 0.013 4 0 0 0 0 0.005 53315 chr11 134226278 134226278 C T rs3802928 GLB1L2 Synonymous SNV Y214Y 0.056 0.068 0.065 23 66 26 0.059 19 0 2 1 1 7.22 53316 chr1 89848352 89848352 G T rs113532469 GBP6 Nonsynonymous SNV V298F 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 22.5 53317 chr1 89850843 89850843 G A rs76159539 GBP6 Nonsynonymous SNV A443T 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 Benign 10.45 53318 chr1 91406734 91406734 T C rs145653093 ZNF644 Synonymous SNV P59P 0.011 0.018 0.003 3 13 7 0.008 1 0 0 0 0 Likely benign 0.035 53319 chr11 1491489 1491489 G A rs374393740 MOB2 Synonymous SNV S240S 0.004 0 0 3 5 0 0.008 0 0 0 0 0 9.505 53320 chr1 184702052 184702052 A T rs200598664 EDEM3 Nonsynonymous SNV D177E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 53321 chr1 170135693 170135693 A G rs41272485 METTL11B Nonsynonymous SNV I127M 0.051 0.055 0.024 15 60 21 0.038 7 1 0 0 0 24.9 53322 chr1 170129701 170129701 T C rs147253400 METTL11B Nonsynonymous SNV M66T 0.009 0.01 0.014 7 11 4 0.018 4 0 0 0 0 11.58 53323 chr1 170135828 170135828 C T rs41272487 METTL11B Synonymous SNV Y172Y 0.081 0.086 0.088 35 95 33 0.09 26 5 3 1 4 8.273 53324 chr1 170136787 170136787 C T rs12075997 METTL11B Synonymous SNV S247S 0.081 0.086 0.088 35 95 33 0.09 26 5 3 1 4 13.95 53325 chr1 170967395 170967395 G A rs151291051 MROH9 Nonsynonymous SNV V526I 0.017 0.021 0.027 12 20 8 0.031 8 0 0 1 0 1.806 53326 chr1 92442695 92442695 A C rs1156281 BRDT Nonsynonymous SNV K192N 0.087 0.13 0.092 33 102 50 0.085 27 1 2 1 2 22.6 53327 chr11 2169077 2169077 T C rs377731345 IGF2-AS 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 1.267 53328 chr1 171553625 171553625 A G rs144691554 PRRC2C Nonsynonymous SNV N2568S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.56 53329 chr1 171557600 171557600 A G rs2421847 PRRC2C Nonsynonymous SNV T2717A 0.051 0.029 0.037 15 60 11 0.038 11 3 2 0 0 8.184 53330 chr1 196928188 196928188 A G rs41310132 CFHR2 Nonsynonymous SNV Y140C 0.026 0.008 0.024 9 31 3 0.023 7 0 0 0 0 23.2 53331 chr1 172387433 172387433 T G rs112122140 DNM3 Synonymous SNV P851P 0.063 0.049 0.02 16 74 19 0.041 6 3 1 0 0 8.791 53332 chr1 94037347 94037347 G A rs138808523 BCAR3 Synonymous SNV G294G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.748 53333 chr11 116691634 116691634 C A rs5110 APOA4 Nonsynonymous SNV Q380H 0.074 0.065 0.065 21 87 25 0.054 19 3 1 1 1 Pathogenic 7.976 53334 chr17 39538371 39538371 T C rs376283081 KRT34 Nonsynonymous SNV N85S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 53335 chr1 94497412 94497412 C G rs141004967 ABCA4 Synonymous SNV L1350L 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.551 53336 chr17 39538593 39538593 T C KRT34 Nonsynonymous SNV N11S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 53337 chr1 197411409 197411409 G A rs62636285 CRB1 Nonsynonymous SNV R1219H 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign/Likely benign 21.9 53338 chr11 117105034 117105034 C T rs139503238 RNF214 Nonsynonymous SNV P16S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 23.1 53339 chr1 174418179 174418179 T C rs143410373 GPR52 Synonymous SNV S310S 0.021 0.01 0.007 14 25 4 0.036 2 0 0 0 0 0.187 53340 chr1 198248154 198248154 G C rs149889960 NEK7 Synonymous SNV R184R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 13.72 53341 chr11 17742970 17742970 G A rs146220306 MYOD1 Nonsynonymous SNV S293N 0.01 0.008 0.01 7 12 3 0.018 3 0 0 0 0 0.092 53342 chr1 174983841 174983841 A G rs36081614 MRPS14 Synonymous SNV H117H 0.011 0.018 0.017 2 13 7 0.005 5 0 0 0 0 3.468 53343 chr11 5529995 5529995 A G rs2234447 UBQLN3 Nonsynonymous SNV M265T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.1 53344 chr11 117252437 117252437 A G rs117083334 CEP164 Nonsynonymous SNV H480R 0.022 0.031 0.034 24 26 12 0.062 10 0 0 1 0 Benign 0.001 53345 chr1 200522621 200522621 G A rs12024960 KIF14 Synonymous SNV D1123D 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 3.207 53346 chr1 175092637 175092637 C T rs116607864 TNN Nonsynonymous SNV R918C 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 22.7 53347 chr11 18568542 18568542 A T rs34242612 UEVLD Synonymous SNV G127G 0.007 0.013 0.01 4 8 5 0.01 3 0 1 0 0 11.54 53348 chr17 39620385 39620385 T A KRT32 Nonsynonymous SNV D314V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 53349 chr11 47361309 47361309 G A rs397515939 MYBPC3 Nonsynonymous SNV R654C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.7 53350 chr11 18600283 18600283 T C rs61752314 UEVLD Star tloss M39V 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 10.67 53351 chr17 39623431 39623431 C T rs117028403 KRT32 Synonymous SNV S49S 0.044 0.042 0.034 16 52 16 0.041 10 0 0 0 0 10.78 53352 chr1 100206478 100206478 C A rs143957192 FRRS1 Nonsynonymous SNV K149N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.7 53353 chr1 201047119 201047119 C T rs140246559 CACNA1S Nonsynonymous SNV V503M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 33 53354 chr11 5537245 5537245 G T rs3802978 UBQLNL Nonsynonymous SNV Q143K 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 0.001 53355 chr11 18735677 18735677 G A rs148308967 IGSF22 Nonsynonymous SNV P606L 0.016 0.023 0.024 5 19 9 0.013 7 0 0 0 0 21.4 53356 chr1 100950015 100950015 T G rs747507053 CDC14A Nonsynonymous SNV F382C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.893 53357 chr17 39881396 39881396 G A rs139997915 HAP1 Nonsynonymous SNV R456C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.75 53358 chr1 178063756 178063756 C T rs73049352 RASAL2 Synonymous SNV A43A 0.024 0.023 0.034 13 28 9 0.033 10 0 0 0 0 21.4 53359 chr1 179077613 179077613 T C rs17277288 ABL2 Nonsynonymous SNV K909R 0.028 0.026 0.02 13 33 10 0.033 6 1 0 1 0 Benign 22.6 53360 chr11 55735776 55735776 C T rs200905105 OR10AG1 Nonsynonymous SNV S55N 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 0.347 53361 chr17 39925274 39925274 C T rs112105828 JUP Synonymous SNV G218G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 15.53 53362 chr11 55761729 55761729 C T rs751091302 OR5F1 Nonsynonymous SNV A125T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 53363 chr11 3249183 3249183 G A rs768307884 MRGPRE Nonsynonymous SNV R283W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.2 53364 chr11 55761731 55761731 G A rs780899733 OR5F1 Nonsynonymous SNV A124V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.033 53365 chr1 180022935 180022935 T C rs377517461 CEP350 Synonymous SNV T1680T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 8.914 53366 chr11 124493068 124493068 A G TBRG1 Nonsynonymous SNV Q30R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 53367 chr11 33563599 33563599 G A rs76672414 KIAA1549L Nonsynonymous SNV G164R 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 13.09 53368 chr11 34378381 34378381 G C rs1925368 ABTB2 Nonsynonymous SNV H250Q 0.093 0.083 0.078 33 109 32 0.085 23 11 0 0 2 9.345 53369 chr1 180914505 180914505 C T rs200225289 KIAA1614 Synonymous SNV R1118R 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 14.49 53370 chr17 41131645 41131645 C A rs35444712 PTGES3L, PTGES3L-AARSD1 Nonsynonymous SNV R58M 0.101 0.12 0.078 40 119 46 0.103 23 5 2 2 4 26.9 53371 chr1 110163879 110163879 G A rs28362581 AMPD2 Nonsynonymous SNV A28T 0.067 0.065 0.082 27 79 25 0.069 24 3 0 2 0 21.2 53372 chr11 56086560 56086560 C T rs117366703 OR8K3 Stop gain Q260X 0.028 0.029 0.017 5 33 11 0.013 5 0 0 0 0 36 53373 chr17 41245471 41245471 C T rs4986850 BRCA1 Nonsynonymous SNV D646N 0.089 0.102 0.075 32 104 39 0.082 22 5 1 2 3 Benign 12.27 53374 chr1 110302450 110302450 C T rs17598321 EPS8L3 Star tloss M1? 0.037 0.044 0.034 16 44 17 0.041 10 0 0 0 0 24.5 53375 chr1 182443110 182443110 G A rs34319448 RGSL1 Synonymous SNV V288V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.179 53376 chr1 182509389 182509389 C T rs61749260 RGSL1 Synonymous SNV T834T 0.012 0.008 0.003 8 14 3 0.021 1 0 0 0 0 2.045 53377 chr17 41454935 41454935 T C rs2061873 LINC00910 0 0 0.17 0 0 0 0 50 0 0 8 0 3.709 53378 chr17 41465823 41465823 T A rs1000007962 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 0.721 53379 chr17 41465829 41465829 A G rs1035232118 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 1.177 53380 chr17 41465830 41465830 A G rs961143638 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 2.131 53381 chr17 41465968 41465968 T C rs377041387 LINC00910 0 0 0.041 0 0 0 0 12 0 0 0 0 2.051 53382 chr1 182775637 182775637 C T rs16859679 NPL Synonymous SNV P48P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.876 53383 chr17 41465970 41465970 A G rs371420425 LINC00910 0 0 0.041 0 0 0 0 12 0 0 0 0 0.424 53384 chr17 41465973 41465973 A C rs766794904 LINC00910 0 0 0.041 0 0 0 0 12 0 0 0 0 2.063 53385 chr1 182785865 182785865 C T rs1128759 NPL Synonymous SNV F108F 0.02 0.031 0.024 8 24 12 0.021 7 0 2 0 0 18.44 53386 chr17 41465975 41465975 T C rs142037739 LINC00910 0 0 0.041 0 0 0 0 12 0 0 0 0 3.658 53387 chr17 41465989 41465989 A G rs147059896 LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 0.625 53388 chr17 41465993 41465993 T C rs145825652 LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 2.923 53389 chr1 182787951 182787951 C T rs10911142 NPL Synonymous SNV L185L 0.019 0.031 0.024 8 22 12 0.021 7 0 2 0 0 14.28 53390 chr11 1258184 1258184 C T rs55703838 MUC5B Synonymous SNV F1029F 0.011 0.018 0.014 16 13 7 0.041 4 0 0 0 0 12.13 53391 chr17 41465994 41465994 T C rs780374180 LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 3.371 53392 chr17 41466000 41466000 - GAGGGG LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 53393 chr17 41466002 41466002 - GAG LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 53394 chr17 41466003 41466003 T G LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 0.573 53395 chr17 41466007 41466007 - G LINC00910 0 0 0.044 0 0 0 0 13 0 0 0 0 53396 chr17 41466010 41466010 C - LINC00910 0 0 0.061 0 0 0 0 18 0 0 0 0 53397 chr17 41466019 41466019 T G rs756100328 LINC00910 0 0 0.068 0 0 0 0 20 0 0 0 0 4.726 53398 chr1 182909515 182909515 T C SHCBP1L Nonsynonymous SNV E240G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 53399 chr17 41466022 41466022 G C rs79526563 LINC00910 0 0 0.068 0 0 0 0 20 0 0 0 0 2.311 53400 chr17 41466035 41466035 A C rs79889672 LINC00910 0 0 0.051 0 0 0 0 15 0 0 0 0 0.005 53401 chr1 182920465 182920465 A G rs11555585 SHCBP1L Synonymous SNV G181G 0.012 0.018 0.014 6 14 7 0.015 4 0 1 0 0 3.419 53402 chr17 41466049 41466049 A G rs62080661 LINC00910 0 0 0.116 0 0 0 0 34 0 0 0 0 0.133 53403 chr17 41466055 41466055 G C rs62080662 LINC00910 0 0 0.119 0 0 0 0 35 0 0 0 0 0.237 53404 chr17 41466096 41466096 A G rs62080664 LINC00910 0 0 0.388 0 0 0 0 114 0 0 0 0 6.164 53405 chr1 184671958 184671958 T C rs114249880 EDEM3 Synonymous SNV K792K 0.016 0.031 0.003 6 19 12 0.015 1 0 0 0 0 7.475 53406 chr17 41466108 41466108 G C rs62080665 LINC00910 0 0 0.371 0 0 0 0 109 0 0 0 0 0.183 53407 chr1 184723721 184723721 T G rs193034365 EDEM3 Nonsynonymous SNV R20S 0.016 0.031 0.007 6 19 12 0.015 2 0 0 0 0 15.42 53408 chr17 41466121 41466131 CGGCGCATGGA - rs201706976 LINC00910 0 0 0.452 0 0 0 0 133 0 0 0 0 53409 chr17 41466210 41466210 T G rs4792984 LINC00910 0 0 0.228 0 0 0 0 67 0 0 1 0 8.365 53410 chr17 41561468 41561468 A G rs757157533 DHX8 Synonymous SNV E21E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.09 53411 chr1 184868333 184868333 C T rs762653796 NIBAN1 Synonymous SNV T55T 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 12.13 53412 chr1 111702020 111702020 A G rs146158422 CEPT1 Nonsynonymous SNV I120V 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 Benign 10.83 53413 chr1 184702008 184702008 G A rs41264582 EDEM3 Nonsynonymous SNV P192L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 53414 chr17 42475670 42475670 T C rs760339 GPATCH8 Nonsynonymous SNV S1181G 0.003 0 0.02 3 3 0 0.008 6 0 0 0 0 0.002 53415 chr1 111957688 111957688 T C rs3767607 OVGP1 Nonsynonymous SNV M479V 0.055 0.057 0.061 29 65 22 0.074 18 3 0 1 3 2.683 53416 chr11 43423027 43423027 G A rs369155231 TTC17 Synonymous SNV Q417Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.5 53417 chr1 184863330 184863330 G A rs78908040 NIBAN1 Nonsynonymous SNV A66V 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 23.6 53418 chr1 111962256 111962256 G T rs17027633 OVGP1 Nonsynonymous SNV D332E 0.043 0.044 0.048 20 51 17 0.051 14 2 0 1 1 23.6 53419 chr1 197026289 197026289 A G rs17514281 F13B Nonsynonymous SNV I342T 0.024 0.018 0.017 4 28 7 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 53420 chr1 111964262 111964262 G A rs2275794 OVGP1 Synonymous SNV D214D 0.043 0.044 0.048 20 50 17 0.051 14 2 0 1 1 3.574 53421 chr1 111991768 111991768 G A rs11548427 WDR77 Synonymous SNV P8P 0.037 0.039 0.041 19 44 15 0.049 12 1 0 1 1 6.694 53422 chr17 42979026 42979026 T C rs74349463 CCDC103 0.187 0.154 0.201 72 219 59 0.185 59 18 5 4 7 Benign/Likely benign 7.809 53423 chr1 112269677 112269677 C T rs34772471 INKA2 Synonymous SNV R269R 0.024 0.013 0.02 9 28 5 0.023 6 0 0 0 0 9.998 53424 chr11 1262540 1262540 C T rs201894106 MUC5B Nonsynonymous SNV T1477M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.378 53425 chr17 42987523 42987523 G A rs9908084 GFAP Nonsynonymous SNV T426M 0.189 0.154 0.201 72 222 59 0.185 59 18 5 4 7 9.573 53426 chr1 186300683 186300683 C T TPR Nonsynonymous SNV G1879R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 53427 chr11 123908942 123908942 A G rs148603378 OR10G7 Nonsynonymous SNV F256S 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 25.5 53428 chr11 4471130 4471130 G A rs775195171 OR52K2 Synonymous SNV V187V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.856 53429 chr1 200376695 200376695 C T rs35342093 ZNF281 Synonymous SNV T713T 0.045 0.057 0.024 16 53 22 0.041 7 1 0 0 0 11.43 53430 chr11 123909008 123909008 T C rs763765989 OR10G7 Nonsynonymous SNV H234R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 53431 chr17 43973418 43973418 C G MAPT-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.805 53432 chr11 123909311 123909311 T C rs472442 OR10G7 Nonsynonymous SNV N133S 0.012 0.008 0.027 11 14 3 0.028 8 0 0 0 1 0.002 53433 chr17 4457116 4457116 T C rs78557985 MYBBP1A Nonsynonymous SNV I184V 0.035 0.034 0.017 18 41 13 0.046 5 1 0 0 2 3.475 53434 chr17 44952521 44952521 C A rs371468509 WNT9B Nonsynonymous SNV T130N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 53435 chr11 45945812 45945812 A G rs372238008 LARGE2 Nonsynonymous SNV H159R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.116 53436 chr1 200877908 200877908 C T rs201225979 INAVA Nonsynonymous SNV R209W 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 33 53437 chr11 130275999 130275999 G A rs34003913 ADAMTS8 Synonymous SNV T708T 0.032 0.029 0.034 9 38 11 0.023 10 1 0 0 0 11.22 53438 chr11 3249598 3249598 G A rs778797737 MRGPRE Synonymous SNV C144C 0.007 0 0 3 8 0 0.008 0 0 0 0 0 0.44 53439 chr11 499120 499120 G A rs17585 RNH1 Nonsynonymous SNV P170L 0.178 0.125 0.156 51 209 48 0.131 46 21 4 4 3 15.88 53440 chr17 4648153 4648153 C G rs775529554 ZMYND15 Nonsynonymous SNV S617C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 53441 chr1 118166385 118166385 G A rs145471785 TENT5C Nonsynonymous SNV E299K 0.029 0.034 0 17 34 13 0.044 0 1 0 0 0 not provided 23 53442 chr11 125366454 125366454 A G rs11220101 LOC403312 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 0.012 53443 chr1 120379932 120379932 G T rs115348036 NBPF7 Nonsynonymous SNV Q297K 0.032 0.036 0.044 18 38 14 0.046 13 0 0 0 1 2.603 53444 chr11 5364295 5364295 C T rs12273630 OR51B5 Nonsynonymous SNV V154I 0.023 0.013 0.027 11 27 5 0.028 8 0 0 0 0 3.153 53445 chr1 201453847 201453847 A G rs144563126 CSRP1 Synonymous SNV S186S 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 11.16 53446 chr11 5364431 5364431 G A rs58233587 OR51B5 Synonymous SNV L108L 0.022 0.013 0.027 11 26 5 0.028 8 0 0 0 0 6.814 53447 chr11 5364476 5364476 C T rs61738485 OR51B5 Synonymous SNV A93A 0.022 0.013 0.027 11 26 5 0.028 8 0 0 0 0 16.18 53448 chr17 48148852 48148852 C T rs61730088 ITGA3 Nonsynonymous SNV A310V 0.011 0.01 0.014 2 13 4 0.005 4 0 0 0 0 Benign 33 53449 chr11 5364493 5364493 T C rs57900141 OR51B5 Nonsynonymous SNV R88G 0.022 0.013 0.027 11 26 5 0.028 8 0 0 0 0 24.4 53450 chr11 5364522 5364522 G T rs57273781 OR51B5 Nonsynonymous SNV T78K 0.022 0.013 0.027 11 26 5 0.028 8 0 0 0 0 23.1 53451 chr11 16837754 16837754 C T rs370828870 PLEKHA7 Nonsynonymous SNV V642I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.3 53452 chr11 5364542 5364558 CAGCCCCAGGTCTGTGG - rs147062602 OR51B5 A66Gfs*48 0.021 0.013 0.027 11 25 5 0.028 8 0 0 0 0 53453 chr1 212873074 212873074 C T rs2202683 BATF3 Nonsynonymous SNV V11I 0.055 0.049 0.051 30 64 19 0.077 15 5 0 1 4 23.1 53454 chr17 48450503 48450503 G A MRPL27 Nonsynonymous SNV T10I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 53455 chr11 36597217 36597217 T C RAG1 Nonsynonymous SNV I788T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 53456 chr17 48614674 48614674 T C rs9914894 LOC105371824 0 0 0.67 0 0 0 0 197 0 0 72 0 2.786 53457 chr11 5475505 5475505 C T rs75620804 OR51I2 Nonsynonymous SNV R263C 0.01 0.003 0.017 7 12 1 0.018 5 0 0 0 0 25.6 53458 chr17 48629375 48629375 G T rs151234453 SPATA20 Synonymous SNV V581V 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 10.96 53459 chr17 48916935 48916935 G A rs35300894 WFIKKN2 Nonsynonymous SNV V3M 0.026 0.016 0.037 5 30 6 0.013 11 0 0 0 0 23.1 53460 chr17 48917609 48917609 C T rs36031777 WFIKKN2 Synonymous SNV G227G 0.027 0.016 0.034 5 32 6 0.013 10 0 0 0 0 0.627 53461 chr1 203317029 203317029 C T rs200131296 FMOD Nonsynonymous SNV V124I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.8 53462 chr17 48917645 48917645 A C rs35114322 WFIKKN2 Synonymous SNV P239P 0.036 0.029 0.048 10 42 11 0.026 14 0 0 0 0 0.002 53463 chr17 49257946 49257946 T C rs3803887 MBTD1 Synonymous SNV Q626Q 0.01 0.026 0.02 4 12 10 0.01 6 0 0 0 0 0.012 53464 chr11 126176478 126176478 - TGGGGA rs201095573 DCPS G84_E85insDG 0.011 0.021 0.007 12 13 8 0.031 2 0 0 0 0 53465 chr11 126343227 126343227 T C rs111418068 KIRREL3 Nonsynonymous SNV I190V 0.079 0.068 0.085 30 93 26 0.077 25 5 1 0 0 Likely benign 10.02 53466 chr11 1263687 1263687 C T rs55933911 MUC5B Synonymous SNV N1859N 0.031 0.021 0.024 3 36 8 0.008 7 0 0 0 0 7.812 53467 chr1 204978704 204978704 G A rs55678495 NFASC Synonymous SNV A925A 0.105 0.12 0.126 43 123 46 0.11 37 6 2 2 0 15.05 53468 chr1 151027587 151027587 G A rs768114309 CDC42SE1 Nonsynonymous SNV R24W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 53469 chr11 130297748 130297748 G C rs35468629 ADAMTS8 Nonsynonymous SNV A145G 0.042 0.044 0.051 16 49 17 0.041 15 0 0 0 0 0.024 53470 chr1 204951138 204951138 C T rs61741829 NFASC Synonymous SNV S831S 0.041 0.042 0.061 24 48 16 0.062 18 0 0 0 1 18.5 53471 chr1 151748992 151748992 T C rs184923169 TDRKH Nonsynonymous SNV I323V 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 23.5 53472 chr17 56381747 56381749 CTC - rs547841194 TSPOAP1 R1794del 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 53473 chr17 56429673 56429673 A G rs2680703 TSPOAP1-AS1 0 0 0.357 0 0 0 0 105 0 0 19 0 12.38 53474 chr11 19735230 19735230 C A LOC100126784 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 53475 chr17 56585893 56585893 G A rs370947346 MTMR4 Nonsynonymous SNV L163F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 53476 chr1 206821569 206821569 C T rs3813963 DYRK3 Synonymous SNV L342L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 10.51 53477 chr1 152382287 152382287 C T rs150002541 CRNN Nonsynonymous SNV R424H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.49 53478 chr1 205901026 205901026 C T rs146704092 SLC26A9 Nonsynonymous SNV V172M 0.008 0.016 0.014 8 9 6 0.021 4 0 0 0 0 24.9 53479 chr1 225506294 225506294 A G rs10495237 DNAH14 Nonsynonymous SNV N3084D 0.056 0.044 0.068 21 66 17 0.054 20 1 0 0 1 Benign 16.79 53480 chr11 15096656 15096656 G A rs200666060 CALCB Nonsynonymous SNV A46T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 53481 chr1 225533731 225533731 T A rs12742757 DNAH14 Synonymous SNV I3582I 0.056 0.047 0.068 23 66 18 0.059 20 1 0 0 1 Benign 15.53 53482 chr11 47363612 47363612 G A rs61897383 MYBPC3 Nonsynonymous SNV R574W 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 53483 chr17 59668517 59668517 C A rs61748812 NACA2 Nonsynonymous SNV V9F 0.042 0.034 0.065 11 49 13 0.028 19 2 0 0 0 22.8 53484 chr11 5878609 5878609 G C rs148345924 OR52E8 Nonsynonymous SNV F108L 0.012 0.016 0.01 3 14 6 0.008 3 0 0 0 0 23 53485 chr1 209788728 209788728 C T rs777498798 LAMB3 Nonsynonymous SNV G1136D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 53486 chr11 58940278 58940278 G T rs12796683 DTX4 Synonymous SNV T70T 0.2 0.18 0.099 80 235 69 0.205 29 23 2 3 10 11.97 53487 chr1 153085153 153085153 G A rs558657056 SPRR2F Synonymous SNV P19P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 8.361 53488 chr1 209907731 209907731 G T rs41283132 HSD11B1 Synonymous SNV G248G 0.009 0.005 0.003 0 11 2 0 1 0 0 0 0 10.54 53489 chr11 2190925 2190925 C T rs76240471 TH Synonymous SNV R89R 0.019 0.013 0.014 4 22 5 0.01 4 0 0 0 0 Benign/Likely benign 11.76 53490 chr1 207110888 207110888 G A rs291097 PIGR Synonymous SNV G199G 0.02 0.018 0.048 3 24 7 0.008 14 0 0 0 0 1.84 53491 chr1 210857138 210857138 A T rs139659266 KCNH1 Nonsynonymous SNV S792T 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Benign 4.691 53492 chr1 207642050 207642050 C G rs61759494 CR2 Synonymous SNV P208P 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 Benign 3.425 53493 chr1 207760804 207760804 C T rs12144461 CR1 Synonymous SNV V1418V 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 11.48 53494 chr11 48266831 48266831 C T OR4X2 Nonsynonymous SNV S59F 0.002 0 0 0 2 0 0 0 0 0 0 0 17.29 53495 chr1 213349747 213349747 C T rs56369827 RPS6KC1 Nonsynonymous SNV P22L 0.014 0.008 0 4 16 3 0.01 0 0 0 0 0 23.9 53496 chr17 62152578 62152578 C T rs75995183 ERN1 Synonymous SNV V104V 0.054 0.039 0.075 26 63 15 0.067 22 0 0 0 1 14.81 53497 chr1 214814747 214814747 A G rs757915333 CENPF Synonymous SNV K1022K 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.017 53498 chr11 18636504 18636504 T C rs61884737 SPTY2D1 Synonymous SNV A439A 0.034 0.049 0.065 21 40 19 0.054 19 1 0 1 0 0.003 53499 chr1 209936914 209936914 C T rs17015169 TRAF3IP3 Synonymous SNV A228A 0.14 0.12 0.214 69 164 46 0.177 63 9 3 5 2 16 53500 chr1 154125299 154125299 C A rs191237997 NUP210L Nonsynonymous SNV G85C 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 28.4 53501 chr11 2631610 2631610 C T rs72847701 KCNQ1OT1 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.86 53502 chr11 2631622 2631622 C T rs72850203 KCNQ1OT1 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.33 53503 chr11 2632730 2632730 C G rs146407692 KCNQ1OT1 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Likely benign 8.555 53504 chr1 154296812 154296812 C T rs41304552 AQP10 Synonymous SNV T254T 0.037 0.052 0.041 17 44 20 0.044 12 1 1 1 0 14.86 53505 chr1 154542754 154542754 C T CHRNB2 Synonymous SNV L92L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.78 53506 chr1 216011442 216011442 C T rs56056328 USH2A Nonsynonymous SNV E3088K 0.015 0.021 0.02 9 18 8 0.023 6 0 0 0 0 Benign/Likely benign 23.2 53507 chr1 212558679 212558679 C T rs11556401 PACC1 Synonymous SNV P144P 0.028 0.042 0.024 14 33 16 0.036 7 0 1 0 0 13.91 53508 chr11 27389739 27389739 T C rs34804482 LGR4 Nonsynonymous SNV D820G 0.019 0.023 0.017 2 22 9 0.005 5 1 0 0 0 25.8 53509 chr1 216363590 216363590 C T rs56013136 USH2A Synonymous SNV S1457S 0.005 0.018 0.007 2 6 7 0.005 2 0 0 0 0 Benign 11.77 53510 chr11 60496822 60496822 C T MS4A18 Nonsynonymous SNV P12S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.671 53511 chr1 155002634 155002634 G A rs138589439 DCST2 Nonsynonymous SNV A368V 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 12.34 53512 chr11 60561549 60561549 G C rs150419681 MS4A10 Synonymous SNV P155P 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 1.251 53513 chr11 20065348 20065348 - A rs374421095 NAV2-AS2 0 0 0 1 0 0 0.003 0 0 0 0 0 53514 chr1 217856626 217856626 G A rs12068167 SPATA17 Synonymous SNV R106R 0.141 0.141 0.156 52 165 54 0.133 46 18 3 3 4 11.13 53515 chr17 65736913 65736913 T C rs61602831 SNORA38B 0 0 0.16 0 0 0 0 47 0 0 5 0 0.63 53516 chr17 65914911 65914911 T C rs80201495 BPTF Synonymous SNV D1795D 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Benign 0.734 53517 chr17 65919092 65919092 G A rs59088743 BPTF Synonymous SNV R1898R 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Benign 12.29 53518 chr1 213061308 213061308 T C rs17677416 FLVCR1 Synonymous SNV Y424Y 0.051 0.039 0.031 24 60 15 0.062 9 2 0 0 0 Benign 0.026 53519 chr17 67108362 67108362 C T rs9282553 ABCA6 Nonsynonymous SNV M698I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.139 53520 chr1 155448878 155448878 G A rs138639058 ASH1L Synonymous SNV S1261S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.329 53521 chr1 214814059 214814059 T G rs61732042 CENPF Nonsynonymous SNV M793R 0.048 0.044 0.034 18 56 17 0.046 10 2 0 0 0 0.608 53522 chr17 67149972 67149972 C T rs72852601 ABCA10 Nonsynonymous SNV R1322Q 0.009 0.008 0.027 1 10 3 0.003 8 0 0 0 0 24.7 53523 chr1 214815492 214815492 A G rs62000407 CENPF Nonsynonymous SNV K1271E 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.096 53524 chr11 3114190 3114190 C T rs35733103 OSBPL5 Nonsynonymous SNV R612Q 0.009 0.005 0.017 3 11 2 0.008 5 0 0 0 0 12.8 53525 chr11 60775280 60775280 G C CD6 Nonsynonymous SNV G123R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.346 53526 chr17 6917703 6917703 C T rs7338 RNASEK-C17orf49 0 0 0.629 0 0 0 0 185 0 0 89 0 19.82 53527 chr1 156347147 156347147 C G rs150963900 RHBG Nonsynonymous SNV F81L 0.01 0.013 0.003 4 12 5 0.01 1 0 0 0 0 26.5 53528 chr1 215853697 215853697 G A rs141528682 USH2A Synonymous SNV L4030L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 10.31 53529 chr1 215990479 215990479 C T rs11120645 USH2A Nonsynonymous SNV D3144N 0.026 0.021 0.034 26 30 8 0.067 10 0 0 0 0 Benign 24.7 53530 chr1 216011408 216011408 T C rs41277194 USH2A Nonsynonymous SNV N3099S 0.026 0.021 0.034 26 31 8 0.067 10 0 0 0 0 Benign 20.2 53531 chr11 5373095 5373095 T C rs77989044 OR51B6 Nonsynonymous SNV C120R 0.047 0.078 0.071 24 55 30 0.062 21 5 3 0 0 0.002 53532 chr1 216465694 216465694 G C rs35818432 USH2A Nonsynonymous SNV L555V 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 53533 chr1 156551399 156551399 C T rs751453760 TTC24 Synonymous SNV C81C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.32 53534 chr11 5373309 5373309 C A rs115333544 OR51B6 Nonsynonymous SNV T191N 0.045 0.078 0.071 24 53 30 0.062 21 4 3 0 0 24 53535 chr11 61725963 61725963 C T rs773753792 BEST1 Nonsynonymous SNV R354W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.892 53536 chr17 71391319 71391319 C T rs375688906 SDK2 Synonymous SNV T1189T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 53537 chr17 71418561 71418561 G C rs766752337 SDK2 Nonsynonymous SNV T637S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.11 53538 chr11 24750779 24750779 C T rs150458536 LUZP2 Nonsynonymous SNV R43C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 53539 chr17 71746574 71746574 T A LINC00469 0 0 0.003 0 0 0 0 1 0 0 0 0 8.294 53540 chr1 158226667 158226667 C T rs1042388 CD1A Synonymous SNV P221P 0.083 0.102 0.041 31 98 39 0.079 12 5 1 0 1 13.68 53541 chr1 158324413 158324413 A G rs2873587 CD1E Nonsynonymous SNV H102R 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Benign 0.003 53542 chr11 62292053 62292053 G T rs746983608 AHNAK Nonsynonymous SNV P3279Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 53543 chr1 158368794 158368794 A G rs12062580 OR10T2 Nonsynonymous SNV F155L 0.009 0.005 0 0 10 2 0 0 0 0 0 0 0.002 53544 chr1 158435704 158435704 T C rs145698229 OR10K1 Nonsynonymous SNV M118T 0.009 0.005 0 0 10 2 0 0 0 0 0 0 17.82 53545 chr11 6239890 6239890 G A rs77726581 FAM160A2 Nonsynonymous SNV R459C 0.007 0.016 0.007 1 8 6 0.003 2 0 0 0 0 22 53546 chr17 72759575 72759575 G A rs119486097 SLC9A3R1 Nonsynonymous SNV E225K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 33 53547 chr11 62455692 62455692 C A rs756704962 LRRN4CL Stop gain E97X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 53548 chr1 158548802 158548802 G A rs36102561 OR10X1 Synonymous SNV P296P 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 Benign 4.969 53549 chr17 7286627 7286627 C T rs186306654 TNK1 Synonymous SNV N74N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 53550 chr1 227843003 227843003 G A rs61740826 ZNF678 Nonsynonymous SNV C375Y 0.046 0.018 0.034 7 54 7 0.018 10 1 0 1 0 24.1 53551 chr17 72927027 72927027 G A rs146656559 OTOP2 Nonsynonymous SNV E433K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.094 53552 chr1 228346053 228346053 C T rs116557768 GJC2 Synonymous SNV H198H 0.027 0.013 0.031 4 32 5 0.01 9 0 0 0 0 Benign 6.786 53553 chr11 6291466 6291466 A G rs77873910 CCKBR Synonymous SNV L100L 0.024 0.034 0.027 10 28 13 0.026 8 0 0 0 0 7.028 53554 chr1 158627315 158627315 T C rs16840450 SPTA1 Synonymous SNV E919E 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 Benign 4.301 53555 chr1 158631106 158631106 G C rs35121052 SPTA1 Nonsynonymous SNV T853R 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 Benign 23.1 53556 chr11 62948219 62948219 A G rs201321403 SLC22A25 Nonsynonymous SNV L328P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 14.45 53557 chr1 228407059 228407059 G T rs141906801 OBSCN Synonymous SNV A896A 0.022 0.013 0.034 5 26 5 0.013 10 0 0 0 0 0.411 53558 chr1 240990455 240990455 T C rs35467041 RGS7 Synonymous SNV T156T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.1 53559 chr1 158632531 158632531 T C rs7547313 SPTA1 Nonsynonymous SNV I809V 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 Benign 25.6 53560 chr11 44639881 44639881 G T rs200514878 CD82 Nonsynonymous SNV G178V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.566 53561 chr1 228467072 228467072 C G rs185248802 OBSCN Synonymous SNV T2441T 0.017 0.013 0.003 7 20 5 0.018 1 0 0 0 1 Benign 8.074 53562 chr11 33121166 33121166 G A rs78085398 CSTF3 Synonymous SNV L308L 0.022 0.031 0.014 10 26 12 0.026 4 0 0 0 0 9.48 53563 chr11 55541019 55541019 G A rs147031394 OR5D13 Nonsynonymous SNV V36I 0.037 0.047 0.037 14 43 18 0.036 11 0 0 0 0 0.001 53564 chr17 73493202 73493202 T C TMEM94 Synonymous SNV S1120S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.004 53565 chr1 158747336 158747336 C T rs115461210 OR6N2 Synonymous SNV L30L 0.009 0.005 0 0 10 2 0 0 0 0 0 0 0.515 53566 chr11 63532464 63532464 G A rs80244664 C11orf95 Synonymous SNV I300I 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 12.92 53567 chr11 4674282 4674282 A G rs61746313 OR51E1 Nonsynonymous SNV I176V 0.025 0.018 0.014 7 29 7 0.018 4 0 0 0 0 0.001 53568 chr11 637570 637570 C T rs530031052 DRD4 Nonsynonymous SNV P89L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 53569 chr11 46749648 46749648 G A rs5898 F2 Synonymous SNV P411P 0.061 0.039 0.065 31 72 15 0.079 19 4 0 0 1 Conflicting interpretations of pathogenicity 11.92 53570 chr17 73519758 73519758 C G rs150169668 TSEN54 Nonsynonymous SNV S443C 0.015 0.01 0.017 0 18 4 0 5 0 0 0 0 Benign/Likely benign 22.9 53571 chr11 46784697 46784697 A C rs7928445 CKAP5 Synonymous SNV G1240G 0.056 0.031 0.082 29 66 12 0.074 24 4 0 1 1 6.929 53572 chr11 55595424 55595424 C T OR5L2 Nonsynonymous SNV H244Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.6 53573 chr11 46812122 46812122 T C rs145005311 CKAP5 Synonymous SNV P554P 0.013 0.005 0.017 3 15 2 0.008 5 0 0 0 0 2.713 53574 chr11 63884747 63884747 C T rs35247680 FLRT1 Synonymous SNV L336L 0.042 0.034 0.027 18 49 13 0.046 8 1 0 0 0 Benign 6.398 53575 chr11 46880602 46880602 T C rs377204138 LRP4 Nonsynonymous SNV R1884G 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Uncertain significance 23.6 53576 chr1 227920314 227920314 C T rs41270155 JMJD4 Nonsynonymous SNV A375T 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 25.3 53577 chr11 34991758 34991758 A G rs146262415 PDHX Nonsynonymous SNV T282A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.1 53578 chr11 34999682 34999682 G C rs35560997 PDHX Nonsynonymous SNV V311L 0.014 0.005 0.003 6 16 2 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 53579 chr11 46958299 46958299 G T rs17787930 C11orf49 Nonsynonymous SNV G7C 0.057 0.042 0.078 29 67 16 0.074 23 3 0 0 1 5.566 53580 chr17 7369371 7369371 C T rs185495992 ZBTB4 Synonymous SNV Q250Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.108 53581 chr11 4703726 4703726 T C rs559781305 OR51E2 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.269 53582 chr11 640099 640099 A G rs34662058 DRD4 Nonsynonymous SNV S284G 0.055 0.065 0.027 22 65 25 0.056 8 12 6 2 3 0.032 53583 chr11 57512187 57512187 C T rs755552092 BTBD18 Nonsynonymous SNV E520K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.22 53584 chr17 73843932 73843932 G A rs374107026 WBP2 Synonymous SNV V159V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 53585 chr17 73872068 73872068 A C TRIM47 Nonsynonymous SNV M372R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.737 53586 chr1 160000820 160000820 G A PIGM Nonsynonymous SNV T237M 0.007 0.003 0 0 8 1 0 0 0 0 0 0 24.2 53587 chr17 74011148 74011148 G A rs747747355 EVPL Nonsynonymous SNV R713W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 53588 chr1 229730691 229730691 T C rs41304137 TAF5L Nonsynonymous SNV T375A 0.008 0.016 0.01 5 9 6 0.013 3 0 0 0 0 21.7 53589 chr11 3690558 3690558 G T rs55719530 CHRNA10 Nonsynonymous SNV T77N 0.008 0.01 0.017 8 9 4 0.021 5 0 0 0 0 26.5 53590 chr11 5602157 5602157 C A OR52B6 Nonsynonymous SNV N17K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.403 53591 chr1 230561627 230561627 G C rs138134082 PGBD5 Synonymous SNV L16L 0.083 0.063 0.041 30 98 24 0.077 12 4 2 2 2 3.625 53592 chr1 229631651 229631651 G A rs34881534 NUP133 Synonymous SNV T321T 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 13.38 53593 chr17 74381682 74381682 C T rs56342542 SPHK1 Nonsynonymous SNV T72I 0.01 0.005 0.014 3 12 2 0.008 4 1 0 0 0 23.4 53594 chr11 57958698 57958698 A G rs554668816 OR9Q2 Nonsynonymous SNV T246A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.36 53595 chr17 74401335 74401335 G A rs140923805 UBE2O Synonymous SNV T180T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 53596 chr11 4790605 4790605 A G rs112024216 OR51F1 Synonymous SNV C188C 0.026 0.039 0.041 13 31 15 0.033 12 0 0 1 0 0.015 53597 chr1 229771536 229771536 C T rs73101784 URB2 Synonymous SNV H392H 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 2.778 53598 chr11 6458835 6458835 G A rs36070033 HPX Nonsynonymous SNV R180C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 53599 chr1 231320923 231320923 C T rs149096976 LOC149373 Nonsynonymous SNV R70H 0.015 0.013 0.014 7 18 5 0.018 4 1 0 0 0 7.03 53600 chr17 74555106 74555106 T C rs4647885 SNHG16 0 0 0.241 0 0 0 0 71 0 0 9 0 4.416 53601 chr1 231339713 231339713 C T rs11806609 TRIM67 Synonymous SNV D545D 0.06 0.068 0.078 31 71 26 0.079 23 2 2 1 0 17.38 53602 chr11 430339 430339 C G rs113926353 ANO9 Nonsynonymous SNV V58L 0.041 0.039 0.051 15 48 15 0.038 15 2 0 0 0 14.79 53603 chr1 160920441 160920441 A G rs79889663 ITLN2 Nonsynonymous SNV S168P 0.048 0.055 0.068 14 56 21 0.036 20 1 0 0 0 23.5 53604 chr1 161012432 161012432 G C rs199606185 USF1 Synonymous SNV T29T 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 7.746 53605 chr1 231298937 231298937 C T rs113255684 TRIM67 Synonymous SNV G74G 0.024 0.008 0.01 11 28 3 0.028 3 0 0 0 0 8.123 53606 chr17 7477965 7477965 C T rs147090597 EIF4A1 Synonymous SNV I58I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.17 53607 chr17 74857676 74857676 A G rs13342029 LINC00868 0 0 0.19 0 0 0 0 56 0 0 6 0 4.08 53608 chr11 48266736 48266736 C T rs7120775 OR4X2 Synonymous SNV Y27Y 0.012 0.016 0.01 2 14 6 0.005 3 0 0 0 0 0.887 53609 chr17 75202387 75202387 C A rs2280271 SEC14L1 Synonymous SNV R382R 0.038 0.052 0.054 11 45 20 0.028 16 2 1 0 0 21.8 53610 chr11 64940257 64940257 C T rs149911369 SPDYC Nonsynonymous SNV R207W 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 26.9 53611 chr11 64956134 64956134 G A rs777274863 CAPN1 Nonsynonymous SNV R361Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.57 53612 chr1 235345115 235345115 C T rs114272232 ARID4B Nonsynonymous SNV R954Q 0.008 0.01 0.014 10 9 4 0.026 4 0 0 0 0 15.85 53613 chr1 232941754 232941754 C T rs571270704 MAP10 Nonsynonymous SNV R329C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 13.19 53614 chr17 7579579 7579579 C T rs1800370 TP53 Synonymous SNV P36P 0.02 0.023 0.027 8 24 9 0.021 8 0 0 0 0 Benign 13.45 53615 chr1 235345346 235345346 C T rs61730876 ARID4B Nonsynonymous SNV G877E 0.034 0.049 0.044 25 40 19 0.064 13 1 1 0 1 0.002 53616 chr1 235345357 235345357 G A rs61730875 ARID4B Synonymous SNV A873A 0.02 0.016 0.01 8 23 6 0.021 3 0 0 0 0 0.04 53617 chr1 233122172 233122172 G A rs151123406 PCNX2 Nonsynonymous SNV T1969M 0.015 0.01 0.01 5 18 4 0.013 3 0 0 0 0 13.66 53618 chr1 162557419 162557419 A G rs34942806 UAP1 Nonsynonymous SNV N330S 0.008 0.003 0.003 8 9 1 0.021 1 0 0 0 0 24.1 53619 chr1 235622071 235622071 G A rs185213208 B3GALNT2 Nonsynonymous SNV L289F 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Uncertain significance 28.4 53620 chr1 163307846 163307846 G A rs61747498 NUF2 Nonsynonymous SNV A158T 0.019 0.016 0.031 3 22 6 0.008 9 0 0 0 0 19.68 53621 chr1 235918870 235918870 T G rs61738992 LYST Synonymous SNV L2379L 0.017 0.016 0.027 5 20 6 0.013 8 0 0 0 0 Benign/Likely benign 9.256 53622 chr11 45987091 45987091 A T rs151169176 PHF21A Synonymous SNV A256A 0.009 0.008 0.01 6 10 3 0.015 3 1 0 0 0 Benign 5.25 53623 chr1 167653143 167653143 C T rs142962082 RCSD1 Nonsynonymous SNV P5S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 11.36 53624 chr1 168105496 168105496 T A rs73030230 GPR161 Nonsynonymous SNV S47C 0.11 0.104 0.088 48 129 40 0.123 26 8 3 1 4 20.3 53625 chr1 236702270 236702270 A G rs751002127 LGALS8 Nonsynonymous SNV I76V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 11.37 53626 chr1 248185951 248185951 A G rs12753585 OR2L5 Synonymous SNV K234K 0.012 0.018 0.014 3 14 7 0.008 4 0 0 0 0 0.001 53627 chr17 76498393 76498393 A G rs73380870 DNAH17-AS1 0 0 0.238 0 0 0 0 70 0 0 6 0 0.221 53628 chr11 47303233 47303233 G C rs370257808 MADD Nonsynonymous SNV Q466H 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 23.9 53629 chr1 235938388 235938388 - A rs557545474 LYST 0.017 0.01 0.01 3 20 4 0.008 3 3 0 0 0 53630 chr11 47371414 47371414 C T rs11570052 MYBPC3 Nonsynonymous SNV V189I 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 Benign/Likely benign 20 53631 chr1 248845356 248845356 G T rs41311583 OR14I1 Nonsynonymous SNV L84M 0.067 0.083 0.054 37 79 32 0.095 16 0 2 1 1 8.194 53632 chr17 76533456 76533456 G A rs61741432 DNAH17 Synonymous SNV I928I 0.02 0.008 0.017 11 24 3 0.028 5 0 0 0 0 8.114 53633 chr17 77757845 77757845 C T rs8080971 CBX2 Synonymous SNV P201P 0.005 0.003 0.017 2 6 1 0.005 5 0 0 0 0 7.413 53634 chr17 77758597 77758597 C T rs76915888 CBX2 Nonsynonymous SNV A452V 0.005 0.003 0.017 2 6 1 0.005 5 0 0 0 0 10.51 53635 chr11 48387238 48387238 G A rs200811929 OR4C5 Synonymous SNV V260V 0.026 0.016 0.003 9 30 6 0.023 1 0 0 0 0 6.009 53636 chr17 78064186 78064248 AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA - rs71163918 CCDC40 T1027T 0.1 0.12 0.252 52 117 46 0.133 74 38 18 11 16 53637 chr17 78069140 78069140 G A rs746632559 CCDC40 Nonsynonymous SNV V971I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Uncertain significance 0.036 53638 chr11 48387284 48387284 - AGTCTTTAGTA rs747433867 OR4C5 Frameshift insertion S245Lfs*19 0.085 0.094 0.065 35 100 36 0.09 19 0 0 0 0 53639 chr1 237811766 237811766 C T rs72549416 RYR2 Synonymous SNV D2455D 0.008 0 0.01 0 9 0 0 3 0 0 0 0 Benign/Likely benign 12.93 53640 chr17 78086452 78086452 C T rs61736896 GAA Synonymous SNV A610A 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.75 53641 chr11 65811100 65811100 C T rs147282818 GAL3ST3 Synonymous SNV P58P 0.039 0.031 0.031 8 46 12 0.021 9 1 0 0 0 10.02 53642 chr17 78264464 78264466 GAG - rs368221664 RNF213 G405del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 53643 chr2 9637331 9637331 A G rs56237316 ADAM17 Synonymous SNV T565T 0.023 0.029 0.024 7 27 11 0.018 7 0 0 0 0 Benign 1.229 53644 chr1 242122328 242122328 G A rs184515322 BECN2 Stop gain W420X 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 5.582 53645 chr1 172017788 172017788 G A rs199794360 DNM3 Synonymous SNV A411A 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 13.92 53646 chr11 608503 608514 GGACGCGCTCTG - rs144630030 PHRF1 G1020_S1023del 0.078 0.065 0.071 25 92 25 0.064 21 6 1 1 1 53647 chr1 244715897 244715897 C T rs753650352 CATSPERE Synonymous SNV T119T 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 3.564 53648 chr1 245849993 245849993 C T rs61740108 KIF26B Synonymous SNV S1236S 0.03 0.029 0.01 9 35 11 0.023 3 0 0 0 0 12.51 53649 chr1 245865810 245865810 C T rs61734433 KIF26B Synonymous SNV L2077L 0.017 0.013 0 6 20 5 0.015 0 0 0 0 0 Benign 11.85 53650 chr2 10784491 10784491 A G rs3732111 NOL10 Synonymous SNV L301L 0.047 0.049 0.082 18 55 19 0.046 24 4 1 0 1 1.688 53651 chr11 66360080 66360080 A G rs138577027 CCDC87 Nonsynonymous SNV V136A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.76 53652 chr1 240492414 240492414 T C rs6677726 FMN2 Synonymous SNV H725H 0.043 0.052 0.044 17 51 20 0.044 13 1 1 0 1 0.006 53653 chr11 6637577 6637577 G A rs35706972 TPP1 Synonymous SNV A348A 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 Benign/Likely benign 4.974 53654 chr17 79093270 79093270 C T rs55713566 AATK Nonsynonymous SNV A1229T 0.037 0.039 0.017 13 44 15 0.033 5 0 1 0 1 15.73 53655 chr11 4843164 4843164 C T rs113211514 OR51F2 Synonymous SNV C171C 0.026 0.042 0.044 13 31 16 0.033 13 0 0 1 0 6.331 53656 chr11 66617790 66617790 G A rs2229745 PC Synonymous SNV N873N 0.026 0.029 0.034 8 30 11 0.021 10 0 0 1 0 Uncertain significance 5.031 53657 chr1 176760568 176760568 C G rs34602579 PAPPA2 Nonsynonymous SNV P1657R 0.028 0.018 0.017 8 33 7 0.021 5 0 0 0 0 23.2 53658 chr11 67176972 67176972 G A rs149140675 TBC1D10C Nonsynonymous SNV R262Q 0.016 0.018 0.014 4 19 7 0.01 4 0 0 0 0 2.721 53659 chr11 67191572 67191572 C T rs200939791 CARNS1 Nonsynonymous SNV R662C 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 33 53660 chr17 79507856 79507856 T G rs11552307 FAAP100 Nonsynonymous SNV I879L 0.014 0.01 0.01 3 17 4 0.008 3 0 0 0 0 0.158 53661 chr17 7984043 7984043 A G rs200516538 ALOX12B Nonsynonymous SNV F195L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.4 53662 chr2 16080250 16080250 G A MYCNOS 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 10.02 53663 chr1 247040571 247040571 T C rs61734012 AHCTF1 Synonymous SNV Q898Q 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.095 53664 chr2 17876420 17876420 T G rs35604590 SMC6 Synonymous SNV R893R 0.01 0.013 0.01 0 12 5 0 3 0 0 0 0 12.46 53665 chr17 80040034 80040034 A G rs2228306 FASN Nonsynonymous SNV V2005A 0.004 0 0.01 4 5 0 0.01 3 0 0 0 0 Benign 11.3 53666 chr11 62156608 62156608 C T rs3741244 ASRGL1 Synonymous SNV N165N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.63 53667 chr17 80393618 80393618 G C HEXD Nonsynonymous SNV Q75H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.269 53668 chr17 80439004 80439004 A G rs113870312 NARF Nonsynonymous SNV Y181C 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 26.4 53669 chr11 62416641 62416641 C G rs144971464 INTS5 Nonsynonymous SNV R304P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 53670 chr17 80626176 80626176 C T rs902995471 MIR4525 0 0 0.003 0 0 0 0 1 0 0 0 0 5.264 53671 chr17 8076874 8076874 G A rs116658491 SNORD118 0 0 0.031 0 0 0 0 9 0 0 0 0 10.4 53672 chr11 5345039 5345039 T A rs747396901 OR51B2 Synonymous SNV S163S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 53673 chr17 813068 813068 G A rs2940810 LOC101927727 0 0 0.544 0 0 0 0 160 0 0 41 0 8.069 53674 chr17 813132 813132 A G rs7218626 LOC101927727 0 0 0.548 0 0 0 0 161 0 0 41 0 0.11 53675 chr17 813140 813140 G A rs931358437 LOC101927727 0 0 0.003 0 0 0 0 1 0 0 0 0 5.081 53676 chr1 180974596 180974596 C T rs12125196 STX6 Synonymous SNV E13E 0.026 0.013 0.037 10 30 5 0.026 11 1 0 0 0 12.96 53677 chr1 182026052 182026052 G C rs115402112 ZNF648 Nonsynonymous SNV P365R 0.032 0.026 0.024 5 38 10 0.013 7 1 0 0 0 25.8 53678 chr11 63487475 63487475 G C rs7936660 RTN3 Nonsynonymous SNV D389H 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 27.1 53679 chr11 63531094 63531094 C G rs372788202 C11orf95 Synonymous SNV T611T 0.011 0.01 0.02 4 13 4 0.01 6 0 0 0 0 6.74 53680 chr11 63885287 63885287 C T rs947939 FLRT1 Synonymous SNV Y516Y 0.102 0.133 0.122 48 120 51 0.123 36 7 1 4 0 0.004 53681 chr2 25536827 25536827 G A rs41284843 DNMT3A Synonymous SNV P9P 0.101 0.12 0.041 28 118 46 0.072 12 8 5 0 2 15.3 53682 chr1 248039294 248039294 G A rs1339847 TRIM58 Nonsynonymous SNV V322I 0.086 0.099 0.088 37 101 38 0.095 26 4 2 2 0 22.7 53683 chr17 9760828 9760828 G A rs61730822 GLP2R Nonsynonymous SNV V234I 0.001 0.005 0.02 0 1 2 0 6 0 0 0 0 7.035 53684 chr18 10699129 10699129 G T rs113682091 PIEZO2 Nonsynonymous SNV A2050D 0.039 0.039 0.065 17 46 15 0.044 19 0 0 1 0 Benign 6.611 53685 chr1 183072701 183072701 C T rs2296289 LAMC1 Synonymous SNV N219N 0.057 0.06 0.105 25 67 23 0.064 31 1 1 1 0 13.89 53686 chr11 64022873 64022873 C T rs199645363 PLCB3 Nonsynonymous SNV T91M 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 Likely benign 33 53687 chr18 11999115 11999115 T C rs11545506 IMPA2 Synonymous SNV L53L 0.105 0.083 0.095 32 123 32 0.082 28 3 1 1 2 5.431 53688 chr11 64026634 64026634 C T rs61755082 PLCB3 Synonymous SNV A414A 0.029 0.065 0.037 21 34 25 0.054 11 0 1 0 0 14.04 53689 chr11 64026639 64026639 G A rs12146487 PLCB3 Nonsynonymous SNV R416H 0.144 0.143 0.136 55 169 55 0.141 40 11 1 4 1 26.1 53690 chr1 248224398 248224398 A G rs55937620 OR2L3 Nonsynonymous SNV M139V 0.01 0.005 0.112 3 12 2 0.008 33 5 1 2 1 0.001 53691 chr11 64039175 64039175 G A rs2286615 BAD Synonymous SNV R96R 0.142 0.141 0.133 54 167 54 0.138 39 10 1 4 1 11.54 53692 chr1 183253173 183253173 A G rs141330511 NMNAT2 Synonymous SNV D177D 0.005 0.008 0 0 6 3 0 0 0 0 0 0 10.99 53693 chr11 71949171 71949171 A G rs763639436 INPPL1 Nonsynonymous SNV Y1213C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 53694 chr11 5255582 5255582 C A rs35152987 HBD Nonsynonymous SNV A28S 0.004 0.013 0.007 4 5 5 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 53695 chr11 64496357 64496357 G T rs2230414 RASGRP2 Synonymous SNV G583G 0.08 0.063 0.116 45 94 24 0.115 34 6 0 2 1 Benign 10.74 53696 chr11 64563757 64563757 C T rs34264803 MAP4K2 Nonsynonymous SNV R572H 0.015 0.008 0.034 11 18 3 0.028 10 0 0 0 0 Benign 34 53697 chr18 19408891 19408891 A G rs78641532 MIR133A1HG 0 0 0.129 0 0 0 0 38 0 0 2 0 0.56 53698 chr18 20513374 20513374 C T rs7227168 MIR4741 0 0 0.112 0 0 0 0 33 0 0 1 0 Benign 11.92 53699 chr11 64569546 64569546 C A rs115646677 MAP4K2 Nonsynonymous SNV A120S 0.01 0.005 0.031 8 12 2 0.021 9 0 0 0 0 Benign 23.6 53700 chr11 5686266 5686266 G A rs28381981 TRIM5 Nonsynonymous SNV H419Y 0.023 0.036 0.041 10 27 14 0.026 12 0 0 0 1 0.001 53701 chr18 21128032 21128032 G A rs373094778 NPC1 Synonymous SNV F565F 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 11.84 53702 chr11 73768553 73768553 C T rs12419308 C2CD3 Nonsynonymous SNV S1663N 0.097 0.081 0.061 35 114 31 0.09 18 5 0 2 2 23 53703 chr11 56949691 56949691 G A rs12364102 LRRC55 Nonsynonymous SNV M65I 0.106 0.086 0.085 32 124 33 0.082 25 1 1 0 0 22.7 53704 chr2 27666283 27666283 T A KRTCAP3 Nonsynonymous SNV W167R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 53705 chr11 5701281 5701281 G A rs3740996 TRIM5 Nonsynonymous SNV H43Y 0.104 0.086 0.095 30 122 33 0.077 28 7 0 3 2 0.002 53706 chr11 58891962 58891962 T - rs199851144 FAM111B Y102Mfs*6 0.037 0.047 0.044 17 44 18 0.044 13 2 1 0 0 53707 chr18 22020467 22020467 T A rs582234 IMPACT Nonsynonymous SNV D125E 0.119 0.138 0.126 46 140 53 0.118 37 14 3 0 2 0.008 53708 chr11 74883577 74883577 G A rs12422149 SLCO2B1 Nonsynonymous SNV R168Q 0.137 0.099 0.143 58 161 38 0.149 42 9 4 5 6 10.09 53709 chr18 2554696 2554696 G C rs150860712 METTL4 Nonsynonymous SNV D267E 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 53710 chr11 64863748 64863748 C G rs758537539 VPS51 Nonsynonymous SNV P9R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.69 53711 chr11 75153437 75153437 C T rs377131289 GDPD5 Nonsynonymous SNV V242M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 53712 chr18 28968349 28968349 C T rs36040686 DSG4 Nonsynonymous SNV S79L 0.007 0.008 0.024 4 8 3 0.01 7 0 0 1 0 Conflicting interpretations of pathogenicity 9.626 53713 chr18 28979427 28979427 G A rs35378785 DSG4 Nonsynonymous SNV G400R 0.007 0.008 0.024 4 8 3 0.01 7 0 0 1 0 Conflicting interpretations of pathogenicity 23.8 53714 chr11 65338944 65338944 T G rs2236684 ZNRD2 Synonymous SNV P76P 0.043 0.042 0.044 18 50 16 0.046 13 1 1 0 0 0.149 53715 chr18 30969567 30969567 G T rs76952832 CCDC178 Nonsynonymous SNV L49I 0.01 0.003 0.044 2 12 1 0.005 13 1 0 0 0 5.9 53716 chr11 551204 551204 C T rs118033321 LRRC56 Nonsynonymous SNV P233L 0.056 0.036 0.071 20 66 14 0.051 21 2 0 1 1 25 53717 chr2 32740138 32740138 T C rs34757266 BIRC6 Synonymous SNV C3550C 0.114 0.115 0.143 42 134 44 0.108 42 7 2 2 2 0.502 53718 chr18 31325578 31325578 C T rs752156735 ASXL3 Synonymous SNV D1922D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.937 53719 chr2 3685163 3685163 T C rs34347618 COLEC11 Synonymous SNV R31R 0.043 0.047 0.095 9 50 18 0.023 28 0 1 1 0 4.992 53720 chr2 33172827 33172827 G A rs147166401 LTBP1 Nonsynonymous SNV E146K 0.011 0.008 0.024 5 13 3 0.013 7 0 0 0 0 12.52 53721 chr18 32886528 32886528 - AGTC rs147217916 ZNF271P 0 0 0.799 0 0 0 0 235 0 0 105 0 53722 chr18 32887933 32887933 A G rs9963614 ZNF271P 0 0 0.724 0 0 0 0 213 0 0 99 0 1.466 53723 chr18 33171746 33171746 T A MIR3975 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 53724 chr1 201330429 201330429 T C rs3730238 TNNT2 Nonsynonymous SNV K247R 0.014 0.021 0.01 4 16 8 0.01 3 0 0 0 0 Benign/Likely benign 17.6 53725 chr11 76979550 76979550 T C rs2729772 GDPD4 Nonsynonymous SNV K220R 0.032 0.034 0.041 17 38 13 0.044 12 1 0 0 0 26.3 53726 chr18 33779705 33779705 G A rs3744900 MOCOS Nonsynonymous SNV S120N 0.055 0.057 0.058 24 64 22 0.062 17 1 0 0 1 23.2 53727 chr2 9048799 9048799 G A MBOAT2 Nonsynonymous SNV T27I 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.3 53728 chr2 36825055 36825055 C G rs774996553 FEZ2 Synonymous SNV R77R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.99 53729 chr1 201356001 201356001 C - rs35016536 LAD1 G163Afs*56 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 53730 chr1 201356005 201356006 CC - rs552300739 LAD1 L161Ffs*31 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 53731 chr1 201617936 201617936 C G rs776139888 NAV1 Nonsynonymous SNV A47G 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 26.2 53732 chr11 65632507 65632507 G A rs61754785 MUS81 Nonsynonymous SNV R432H 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 23.6 53733 chr2 37494591 37494591 A G rs2302650 PRKD3 Synonymous SNV N622N 0.158 0.172 0.102 48 186 66 0.123 30 15 4 4 2 9.091 53734 chr2 10188669 10188669 G A rs34762805 KLF11 Nonsynonymous SNV R385Q 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Benign/Likely benign 23.1 53735 chr11 58919813 58919813 A G rs10896928 FAM111A Synonymous SNV A224A 0.153 0.128 0.16 59 180 49 0.151 47 10 2 3 7 6.523 53736 chr2 38177507 38177507 C T rs183549525 RMDN2-AS1 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 6.176 53737 chr18 34385466 34385466 C T rs780607810 TPGS2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 53738 chr2 10192598 10192598 G A rs36091043 KLF11 Synonymous SNV P484P 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Likely benign 4.59 53739 chr2 10262892 10262892 C T rs68002429 RRM2 Synonymous SNV S49S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 12.42 53740 chr18 35237129 35237129 A G rs11873400 MIR4318 0 0 0.01 0 0 0 0 3 0 0 0 0 4.799 53741 chr1 202126900 202126900 C T rs149783764 PTPN7 Nonsynonymous SNV A120T 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 23.8 53742 chr11 556063 556063 C T rs144614541 LMNTD2 Nonsynonymous SNV S437N 0.048 0.029 0.061 17 56 11 0.044 18 2 0 1 1 11.24 53743 chr2 38916970 38916970 A T rs6741892 GALM Nonsynonymous SNV N190Y 0.112 0.12 0.092 33 132 46 0.085 27 8 6 2 1 13.3 53744 chr2 15519924 15519924 C T rs116210837 NBAS Nonsynonymous SNV R1131H 0.02 0.021 0.041 10 24 8 0.026 12 0 0 1 0 24.7 53745 chr11 556531 556531 C G rs115226534 LMNTD2 Nonsynonymous SNV C345S 0.058 0.034 0.068 20 68 13 0.051 20 2 0 1 1 0.001 53746 chr11 78449583 78449583 G A rs76283314 TENM4 Nonsynonymous SNV T930I 0.014 0.021 0.02 13 16 8 0.033 6 0 0 0 1 Benign 28.4 53747 chr18 43418689 43418689 C G rs200427190 SIGLEC15 Nonsynonymous SNV P168R 0 0 0.007 0 0 0 0 2 0 0 0 0 26 53748 chr18 44104677 44104677 G A rs376338995 LOXHD1 Synonymous SNV Y371Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.586 53749 chr11 7982016 7982016 G A rs143970775 NLRP10 Synonymous SNV S381S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.933 53750 chr11 5566751 5566751 C A rs114189564 OR52H1 Star tloss M1? 0.009 0.008 0.003 7 10 3 0.018 1 0 0 0 0 9.747 53751 chr2 43451957 43451957 G A rs149290349 ZFP36L2 Nonsynonymous SNV A329V 0.02 0.005 0.014 4 23 2 0.01 4 5 0 1 0 7.126 53752 chr1 203024767 203024767 C T rs3736314 PPFIA4 Synonymous SNV A679A 0.161 0.143 0.133 54 189 55 0.138 39 12 2 2 4 15.82 53753 chr11 60889260 60889260 G A rs143050269 CD5 Nonsynonymous SNV R271Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.026 53754 chr11 557617 557617 C T rs115430352 LMNTD2 Nonsynonymous SNV M193I 0.059 0.036 0.065 20 69 14 0.051 19 2 0 1 1 14.47 53755 chr11 59244944 59244944 C T rs137857607 OR4D10 Synonymous SNV F14F 0.013 0.013 0.003 10 15 5 0.026 1 0 0 0 0 8.339 53756 chr2 15378808 15378808 C G rs34080125 NBAS Synonymous SNV L1909L 0.033 0.036 0.024 12 39 14 0.031 7 1 1 0 0 0.298 53757 chr1 203740024 203740024 C T rs115825386 LAX1 Nonsynonymous SNV A37V 0.007 0.013 0.007 3 8 5 0.008 2 0 0 0 0 0.394 53758 chr11 55904886 55904886 C A rs148614083 OR8J3 Synonymous SNV G103G 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 17.9 53759 chr18 47581748 47581748 A C rs16951438 MYO5B Nonsynonymous SNV C10G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 8.691 53760 chr1 203768702 203768702 A G ZBED6 Synonymous SNV L684L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.117 53761 chr1 204161947 204161947 C T rs12998 KISS1 Nonsynonymous SNV E20K 0.038 0.036 0.044 10 45 14 0.026 13 0 1 1 0 23.7 53762 chr1 204210604 204210604 C T rs61755452 PLEKHA6 Nonsynonymous SNV V770I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 2.987 53763 chr11 61511133 61511133 G A rs3741251 DAGLA Synonymous SNV A767A 0.082 0.096 0.116 21 96 37 0.054 34 3 2 4 0 4.087 53764 chr11 61511271 61511271 G A rs34365114 DAGLA Synonymous SNV L813L 0.016 0.008 0.031 3 19 3 0.008 9 0 0 0 0 4.861 53765 chr1 204429727 204429727 C T rs61755372 PIK3C2B Nonsynonymous SNV R458Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 26.9 53766 chr2 20402964 20402964 G A rs140034717 SDC1 Nonsynonymous SNV S216L 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 23.3 53767 chr2 17998001 17998001 C T rs201149255 MSGN1 Synonymous SNV G72G 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 6.175 53768 chr18 54293658 54293658 T C rs14387 TXNL1 Synonymous SNV A43A 0.048 0.029 0.044 11 56 11 0.028 13 1 1 1 2 12.87 53769 chr1 205272962 205272962 G A rs55679125 NUAK2 Synonymous SNV I501I 0.014 0.008 0.003 1 16 3 0.003 1 0 0 0 0 5.123 53770 chr2 20647241 20647241 C T rs7043 RHOB Synonymous SNV R5R 0.043 0.036 0.044 12 50 14 0.031 13 0 0 0 0 17.45 53771 chr1 205548956 205548956 G A rs112374673 MFSD4A Nonsynonymous SNV R103H 0.032 0.021 0.034 10 38 8 0.026 10 0 0 0 0 0.255 53772 chr11 62296319 62296319 A T rs747109362 AHNAK Nonsynonymous SNV M1857K 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 15.06 53773 chr2 23980315 23980315 C T rs115642848 ATAD2B Nonsynonymous SNV V1346I 0.016 0.018 0.003 6 19 7 0.015 1 0 0 0 0 12.88 53774 chr2 21229446 21229446 G C rs1042023 APOB Nonsynonymous SNV Q3432E 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign/Likely benign 5.286 53775 chr11 8660299 8660299 C T TRIM66 Nonsynonymous SNV A593T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 6.14 53776 chr11 6816792 6816792 T C rs61741824 OR6A2 Nonsynonymous SNV I50V 0.049 0.042 0.037 8 57 16 0.021 11 4 1 1 0 0.001 53777 chr2 21249716 21249716 C T rs12691202 APOB Nonsynonymous SNV V730I 0.037 0.039 0.02 12 44 15 0.031 6 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 53778 chr18 56892947 56892947 T C rs15526 GRP Synonymous SNV D121D 0.008 0.003 0.031 2 9 1 0.005 9 0 0 0 0 3.862 53779 chr2 26695500 26695500 A C rs41288773 OTOF Nonsynonymous SNV C561G 0.036 0.031 0.014 13 42 12 0.033 4 1 1 0 0 Benign/Likely benign 0.003 53780 chr18 5840810 5840810 G A rs72855836 MIR3976 0 0 0.061 0 0 0 0 18 0 0 2 0 14.76 53781 chr2 26702412 26702412 G A rs13004993 OTOF Synonymous SNV D674D 0.032 0.018 0.027 10 37 7 0.026 8 0 0 0 0 Benign/Likely benign 0.409 53782 chr2 25781204 25781204 T C DTNB Nonsynonymous SNV T317A 0 0 0 2 0 0 0.005 0 0 0 0 0 1.723 53783 chr18 59931247 59931247 G A rs151191309 RELCH Synonymous SNV S792S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.25 53784 chr1 208252652 208252652 C T rs201952593 PLXNA2 Nonsynonymous SNV D847N 0.009 0.005 0 0 10 2 0 0 0 0 0 0 22.5 53785 chr2 26536410 26536410 C T rs144802277 ADGRF3 Synonymous SNV S237S 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 11.6 53786 chr2 61719197 61719197 A G rs140996808 XPO1 Synonymous SNV T620T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.406 53787 chr2 27604540 27604540 C T PPM1G Nonsynonymous SNV E523K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.73 53788 chr11 6190850 6190850 C T rs77344022 OR52B2 Nonsynonymous SNV R236Q 0.016 0.021 0.01 9 19 8 0.023 3 0 0 0 0 11.81 53789 chr1 210267894 210267896 GAA - rs2307890 SYT14 E225del 0.109 0.107 0.109 34 128 41 0.087 32 8 3 1 2 53790 chr1 210577831 210577831 C T rs34772809 HHAT Synonymous SNV N165N 0.176 0.141 0.153 64 207 54 0.164 45 27 3 2 4 14.64 53791 chr11 93456335 93456335 G C rs113577083 CEP295 Nonsynonymous SNV V2026L 0.003 0.013 0.01 2 3 5 0.005 3 0 0 0 0 0.541 53792 chr1 210577901 210577901 T C rs34228541 HHAT Nonsynonymous SNV C189R 0.179 0.141 0.146 65 210 54 0.167 43 27 3 2 4 27.8 53793 chr1 210856818 210856818 T A rs114571785 KCNH1 Synonymous SNV T898T 0.037 0.036 0.037 21 44 14 0.054 11 2 1 0 0 8.4 53794 chr2 27293041 27293041 C T rs80197776 AGBL5 Synonymous SNV S857S 0.045 0.047 0.017 29 53 18 0.074 5 2 0 0 2 11.04 53795 chr11 62295549 62295549 C T rs1298288 AHNAK Nonsynonymous SNV A2114T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.004 53796 chr11 62366109 62366109 C G rs919027697 MTA2 Nonsynonymous SNV E65Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23 53797 chr18 674320 674320 A G rs3744962 ENOSF1 Synonymous SNV P410P 0.039 0.068 0.044 18 46 26 0.046 13 0 1 0 0 8.641 53798 chr18 6927348 6927348 G A rs2282629 LINC00668 0 0 0.316 0 0 0 0 93 0 0 17 0 1.522 53799 chr18 6927352 6927352 T C rs2282630 LINC00668 0 0 0.316 0 0 0 0 93 0 0 17 0 1.859 53800 chr18 6927353 6927353 G A rs2282631 LINC00668 0 0 0.316 0 0 0 0 93 0 0 17 0 0.765 53801 chr18 6956263 6956263 T - rs34931978 LOC101927188 0 0 0.085 0 0 0 0 25 0 0 1 0 53802 chr18 6956393 6956393 T C rs11875257 LOC101927188 0 0 0.276 0 0 0 0 81 0 0 10 0 3.561 53803 chr2 31573087 31573087 A G rs146994573 XDH Synonymous SNV I878I 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.52 53804 chr1 214813695 214813695 A C rs61732045 CENPF Synonymous SNV R672R 0.006 0.01 0 0 7 4 0 0 0 0 0 0 0.059 53805 chr11 993817 993817 G A rs201859072 AP2A2 Synonymous SNV A539A 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 14.29 53806 chr2 31606625 31606625 G A rs138246330 XDH Synonymous SNV P294P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.867 53807 chr11 72533092 72533092 G T rs761102070 ATG16L2 Synonymous SNV L26L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 4.918 53808 chr11 56144022 56144022 A G rs746007807 OR8U1 Nonsynonymous SNV K308R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 53809 chr11 64559740 64559740 G A rs17854520 MAP4K2 Synonymous SNV N598N 0.01 0.005 0.014 3 12 2 0.008 4 0 0 0 0 Benign 9.2 53810 chr2 29052131 29052131 G A rs149516033 SPDYA Synonymous SNV Q166Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 7.379 53811 chr18 72264639 72264639 C T rs28476707 LINC00909 0 0 0.146 0 0 0 0 43 0 0 4 0 5.371 53812 chr18 74090931 74090931 C T rs690353 ZNF516 Synonymous SNV P1046P 0.014 0.018 0.024 2 16 7 0.005 7 0 0 0 0 16.68 53813 chr11 63357749 63357749 C T rs185240523 PLAAT3 Synonymous SNV G70G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.7 53814 chr18 74091235 74091235 G C rs621265 ZNF516 Synonymous SNV A945A 0.017 0.023 0.034 4 20 9 0.01 10 0 0 0 0 0.005 53815 chr2 37041480 37041480 G A rs17441812 VIT Synonymous SNV E650E 0.039 0.034 0.037 10 46 13 0.026 11 0 0 1 0 11.1 53816 chr18 74091961 74091961 C T rs634493 ZNF516 Synonymous SNV T703T 0.013 0.021 0.02 1 15 8 0.003 6 0 0 0 0 13.48 53817 chr1 217604654 217604654 T C rs35737297 GPATCH2 Nonsynonymous SNV M474V 0.054 0.057 0.058 18 63 22 0.046 17 2 1 2 1 25.5 53818 chr11 7509385 7509385 A G rs146594846 OLFML1 Nonsynonymous SNV T53A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 18.33 53819 chr18 74962810 74962810 G T rs5375 GALR1 Synonymous SNV V102V 0.032 0.026 0.031 15 37 10 0.038 9 1 0 0 0 7.403 53820 chr11 64815642 64815642 - GTTGA NAALADL1 Frameshift insertion V444Sfs*40 0.002 0 0 2 2 0 0.005 0 0 0 0 0 53821 chr11 75526481 75526481 C A rs7118567 UVRAG Nonsynonymous SNV P10H 0.057 0.023 0.01 30 67 9 0.077 3 9 1 0 3 9.782 53822 chr18 77221349 77221349 C T rs774653931 NFATC1 Nonsynonymous SNV R176W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 53823 chr11 75526482 75526482 C G rs7118569 UVRAG Synonymous SNV P10P 0.057 0.023 0.01 30 67 9 0.077 3 9 1 0 3 12.36 53824 chr11 75852448 75852448 C T rs636420 UVRAG Synonymous SNV S697S 0.064 0.063 0.075 29 75 24 0.074 22 3 1 0 0 10.37 53825 chr12 103234177 103234177 C T rs5030861 PAH 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 25.7 53826 chr18 77439532 77439532 T C rs3826573 LOC284241 0 0 0.602 0 0 0 0 177 0 0 59 0 4.768 53827 chr11 76506690 76506690 C T rs148573319 TSKU Synonymous SNV A10A 0.015 0.008 0.003 8 18 3 0.021 1 0 0 0 0 13.26 53828 chr12 1040410 1040410 G A rs146108101 RAD52 Synonymous SNV S54S 0.002 0.008 0.007 5 2 3 0.013 2 0 0 0 0 10.56 53829 chr12 104136332 104136332 C A rs143211432 STAB2 Nonsynonymous SNV P2011T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 53830 chr2 73613037 73613037 - GGA ALMS1 E28_A29insE 0.141 0.135 0 46 165 52 0.118 0 0 0 0 0 53831 chr2 73716810 73716810 G A rs3820700 ALMS1 Nonsynonymous SNV S2574N 0.154 0.122 0.116 56 181 47 0.144 34 15 3 5 6 Benign 26.6 53832 chr2 73717103 73717103 G C rs2017116 ALMS1 Nonsynonymous SNV D2672H 0.161 0.125 0.122 57 189 48 0.146 36 15 3 5 7 Benign 3.135 53833 chr11 65303581 65303581 C T rs372352176 SCYL1 Nonsynonymous SNV T515I 0.009 0 0 2 10 0 0.005 0 0 0 0 0 29.5 53834 chr1 223285200 223285200 G A rs5744168 TLR5 Stop gain R392X 0.036 0.057 0.051 20 42 22 0.051 15 1 1 0 1 protective, risk factor 38 53835 chr2 32740295 32740295 C G rs61754200 BIRC6 Nonsynonymous SNV L3603V 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 Benign 12.39 53836 chr12 104379506 104379506 - TTGAGAGCGTGGAGTTAAGAG rs765686214 TDG R227_G228insVESVELR 0.022 0.016 0 14 26 6 0.036 0 0 0 0 0 53837 chr1 223285833 223285833 G T rs45528236 TLR5 Nonsynonymous SNV Q181K 0.036 0.057 0.051 20 42 22 0.051 15 1 1 0 1 0.017 53838 chr19 1003158 1003158 C T rs35163060 GRIN3B Synonymous SNV A152A 0.05 0.042 0.078 15 59 16 0.038 23 1 0 0 3 14.55 53839 chr11 65360852 65360852 - A rs747697567 KCNK7 Frameshift insertion G241Wfs*22 0.009 0 0 2 10 0 0.005 0 0 0 0 0 53840 chr11 56756561 56756561 T C rs746623982 OR5AK2 Nonsynonymous SNV L58P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 53841 chr2 74689078 74689078 C T rs142032474 MOGS Nonsynonymous SNV R613Q 0.007 0.021 0.02 9 8 8 0.023 6 0 0 0 0 Benign/Likely benign 0.003 53842 chr1 224482084 224482084 C T rs34631151 NVL Nonsynonymous SNV V215I 0.054 0.034 0.048 26 63 13 0.067 14 2 0 0 3 29.7 53843 chr11 76895645 76895645 C T rs782397974 MYO7A Synonymous SNV L1130L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.21 53844 chr11 56756564 56756564 C T rs371241737 OR5AK2 Nonsynonymous SNV T59M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.335 53845 chr11 76909559 76909559 C T rs56174006 MYO7A Synonymous SNV N1487N 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 8.809 53846 chr11 56757114 56757114 T C OR5AK2 Synonymous SNV A242A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 53847 chr11 56757127 56757127 G A rs539655163 OR5AK2 Nonsynonymous SNV A247T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 53848 chr11 56757133 56757133 A G OR5AK2 Nonsynonymous SNV T249A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.806 53849 chr2 44201376 44201376 T C rs4953042 LRPPRC Synonymous SNV Q356Q 0.126 0.143 0.119 38 148 55 0.097 35 9 4 3 6 Benign 0.053 53850 chr2 44206994 44206994 T C LRPPRC Nonsynonymous SNV H147R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 53851 chr11 6541303 6541303 C G rs756242298 DNHD1 Nonsynonymous SNV L586V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 53852 chr2 44993652 44993652 C T rs150667583 CAMKMT Synonymous SNV I282I 0.01 0.008 0.003 5 12 3 0.013 1 0 0 0 0 Benign 10.45 53853 chr2 39406361 39406361 T C rs145529780 CDKL4 Synonymous SNV A298A 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 0.217 53854 chr11 57182533 57182533 G T rs145287776 SLC43A3 Nonsynonymous SNV S272R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.81 53855 chr11 57182534 57182534 C A rs141277946 SLC43A3 Nonsynonymous SNV S272I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.2 53856 chr12 108011952 108011952 T A BTBD11 Nonsynonymous SNV L287Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 53857 chr2 48808125 48808125 G T rs72824125 STON1, STON1-GTF2A1L Nonsynonymous SNV G118V 0.006 0.008 0.014 6 7 3 0.015 4 0 0 0 0 Benign 14.25 53858 chr12 108911019 108911019 G A rs146248286 FICD Synonymous SNV T90T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.186 53859 chr2 84831486 84831486 G A rs188063631 DNAH6 Synonymous SNV R964R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 2.105 53860 chr11 5730584 5730584 T C rs183243171 TRIM22 Synonymous SNV Y397Y 0.013 0.021 0.007 7 15 8 0.018 2 0 1 0 0 0.034 53861 chr19 1043103 1043103 G A rs72973581 ABCA7 Nonsynonymous SNV G215S 0.043 0.047 0.044 13 51 18 0.033 13 0 1 0 0 0.004 53862 chr1 226555301 226555301 C T rs200801740 PARP1 Synonymous SNV V762V 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 15.28 53863 chr11 65361197 65361197 C T rs150369027 KCNK7 Synonymous SNV A156A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.16 53864 chr12 10954724 10954724 G C TAS2R7 Nonsynonymous SNV T149S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 53865 chr2 54117338 54117338 T G rs758193312 PSME4 Nonsynonymous SNV K1400T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 20.4 53866 chr11 65810239 65810239 G A rs78578425 GAL3ST3 Synonymous SNV A345A 0.175 0.201 0.163 66 206 77 0.169 48 25 12 5 7 8.822 53867 chr11 57947163 57947163 G A rs111629598 OR9Q1 Nonsynonymous SNV A83T 0.054 0.06 0.065 18 63 23 0.046 19 1 2 0 1 20.4 53868 chr2 54163245 54163245 A G rs148331400 PSME4 Synonymous SNV D271D 0.01 0.016 0.017 3 12 6 0.008 5 0 0 1 0 8.224 53869 chr2 46313481 46313481 C T rs1143691 PRKCE Synonymous SNV H524H 0.089 0.094 0.061 29 104 36 0.074 18 5 0 0 0 11.49 53870 chr11 66136961 66136961 T C rs146937376 SLC29A2 Nonsynonymous SNV R52G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.781 53871 chr1 228004967 228004967 C T rs142282956 PRSS38 Synonymous SNV A123A 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 13.85 53872 chr11 6623433 6623433 G A rs146487650 RRP8 Nonsynonymous SNV R38C 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 23.7 53873 chr2 48896967 48896967 G A rs148943401 GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV G328E 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 0.134 53874 chr1 228363037 228363037 G A rs142711871 IBA57 Synonymous SNV T298T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.731 53875 chr2 48915166 48915166 G A LHCGR Synonymous SNV I590I 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 5.909 53876 chr1 228399514 228399514 C G OBSCN Synonymous SNV P10P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.481 53877 chr12 110345457 110345457 G A rs111431053 TCHP Nonsynonymous SNV E218K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.2 53878 chr19 11169514 11169514 C T rs9105 SMARCA4 Synonymous SNV D1498D 0.03 0.034 0.031 11 35 13 0.028 9 0 1 0 0 Benign 19.62 53879 chr2 61413590 61413592 AAG - rs140643401 AHSA2P 0.036 0.039 0.024 8 42 15 0.021 7 1 0 0 0 53880 chr2 97361515 97361515 G T rs201835531 FER1L5 Nonsynonymous SNV V1311L 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 14.07 53881 chr11 5922293 5922293 T G rs117829843 OR52E5 Nonsynonymous SNV F100C 0.018 0.036 0.02 15 21 14 0.038 6 0 0 0 0 11.01 53882 chr11 66062023 66062023 G A rs34837704 TMEM151A Synonymous SNV P102P 0.037 0.013 0.034 15 43 5 0.038 10 1 0 0 0 2.503 53883 chr11 66638540 66638540 C A rs147945506 PC Nonsynonymous SNV V206L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign/Likely benign 25.2 53884 chr2 98427633 98427633 C T rs61729688 TMEM131 Synonymous SNV E642E 0.043 0.036 0.024 16 50 14 0.041 7 1 1 0 0 14.04 53885 chr19 12126932 12126932 C T ZNF433 Synonymous SNV G250G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 53886 chr2 64778749 64778749 C A rs113401509 AFTPH Nonsynonymous SNV F47L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.5 53887 chr12 112097057 112097057 C T rs151101195 BRAP Synonymous SNV T355T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign 17.7 53888 chr2 64778986 64778986 T C rs35121285 AFTPH Synonymous SNV D126D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.001 53889 chr11 86666030 86666030 G T rs756119359 FZD4 Nonsynonymous SNV P33Q 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 18.53 53890 chr12 112237763 112237763 T C rs138505396 ALDH2 Synonymous SNV V387V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.099 53891 chr2 64779509 64779509 G A rs3770740 AFTPH Nonsynonymous SNV E301K 0.012 0.013 0.014 3 14 5 0.008 4 0 0 0 0 14.65 53892 chr12 112673390 112673390 G A rs776499420 HECTD4 Synonymous SNV N1891N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.745 53893 chr11 67232144 67232144 A T rs371583185 TMEM134 Nonsynonymous SNV C162S 0.009 0 0 2 11 0 0.005 0 0 0 0 0 17.43 53894 chr2 64780257 64780257 A G rs3770739 AFTPH Nonsynonymous SNV N550S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.003 53895 chr2 99260498 99260498 G A rs147564347 MGAT4A Nonsynonymous SNV P175L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.9 53896 chr2 65299766 65299766 T C rs55952639 CEP68 Synonymous SNV D512D 0.065 0.057 0.044 23 76 22 0.059 13 1 1 1 0 0.177 53897 chr2 56145071 56145071 T C rs35447389 EFEMP1 Synonymous SNV E82E 0.003 0.013 0.003 4 4 5 0.01 1 0 0 0 0 Benign 1.291 53898 chr11 8734260 8734260 G A rs61756193 DENND2B Synonymous SNV H250H 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 Benign 10.3 53899 chr1 228527685 228527685 C T rs142093978 OBSCN Synonymous SNV D5766D 0.012 0.01 0.007 5 14 4 0.013 2 0 0 0 1 Benign 17.73 53900 chr2 100009472 100009472 G A EIF5B Nonsynonymous SNV V931I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.2 53901 chr11 88027209 88027209 T C rs3888798 CTSC Nonsynonymous SNV I453V 0.024 0.029 0.031 8 28 11 0.021 9 1 0 0 0 Benign/Likely benign 23.6 53902 chr1 228559967 228559967 C T rs72762066 OBSCN Nonsynonymous SNV P7163L 0.031 0.021 0.02 14 36 8 0.036 6 0 0 0 0 22 53903 chr11 88027393 88027393 A C rs17594 CTSC Synonymous SNV T391T 0.023 0.029 0.031 8 27 11 0.021 9 1 0 0 0 Benign 0.867 53904 chr1 229667408 229667408 C T rs138740992 ABCB10 Synonymous SNV E470E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 15.32 53905 chr19 13947292 13947292 T C rs895819 LOC284454, MIR27A 0 0 0.238 0 0 0 0 70 0 0 10 0 8.38 53906 chr2 69093312 69093312 A G rs2231344 BMP10 Synonymous SNV D242D 0.053 0.052 0.041 18 62 20 0.046 12 2 0 0 0 0.362 53907 chr2 69204671 69204671 A T rs9808077 GKN1 Synonymous SNV L33L 0.085 0.068 0.082 26 100 26 0.067 24 3 2 3 2 0.015 53908 chr2 64114553 64114553 G A rs147051654 UGP2 Synonymous SNV L352L 0.022 0.029 0.01 10 26 11 0.026 3 0 0 0 0 11.32 53909 chr1 231298898 231298898 C A rs61750990 TRIM67 Synonymous SNV A61A 0.025 0.023 0.034 10 29 9 0.026 10 2 0 0 0 11.72 53910 chr19 1466252 1466252 C A rs10413634 APC2 Synonymous SNV T983T 0.006 0.003 0.014 0 7 1 0 4 0 0 1 0 4.793 53911 chr2 64863751 64863751 C T rs138140032 SERTAD2 Nonsynonymous SNV M85I 0.011 0.016 0 3 13 6 0.008 0 0 0 0 0 2.184 53912 chr12 113629468 113629468 A C RITA1 Nonsynonymous SNV H243P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 53913 chr19 1491330 1491330 T C rs746879220 REEP6 Nonsynonymous SNV V21A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 53914 chr11 92623748 92623748 T C rs188175143 FAT3 Synonymous SNV S4381S 0.013 0.01 0.007 3 15 4 0.008 2 1 0 0 0 2.349 53915 chr12 117665264 117665264 A G rs9658501 NOS1 Synonymous SNV T860T 0.024 0.016 0.027 17 28 6 0.044 8 0 0 0 0 0.451 53916 chr12 117909032 117909032 G A rs183400641 KSR2 Synonymous SNV P892P 0 0.003 0.01 3 0 1 0.008 3 0 0 0 0 10.91 53917 chr2 70096862 70096862 T C rs114517801 GMCL1 Synonymous SNV R410R 0.037 0.049 0.037 9 43 19 0.023 11 0 0 0 0 2.352 53918 chr11 93456349 93456349 G A CEP295 Synonymous SNV L2030L 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 1.758 53919 chr2 71036482 71036482 T C rs2287101 CLEC4F Nonsynonymous SNV K564R 0.064 0.06 0.031 26 75 23 0.067 9 4 2 0 0 0.002 53920 chr12 119583248 119583248 G A rs78239403 SRRM4 Synonymous SNV S278S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.069 53921 chr2 71058230 71058230 T A rs57302492 CD207 Nonsynonymous SNV K313I 0.078 0.081 0.051 14 91 31 0.036 15 3 1 0 0 0.001 53922 chr12 119592103 119592103 G C rs555479589 SRRM4 Nonsynonymous SNV A483P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 53923 chr2 71058306 71058306 T C rs13383830 CD207 Nonsynonymous SNV N288D 0.078 0.081 0.051 14 91 31 0.036 15 3 1 0 0 23 53924 chr12 119916900 119916900 A G rs2519540 CCDC60 Nonsynonymous SNV T115A 0.106 0.091 0.105 44 124 35 0.113 31 11 1 1 2 0.002 53925 chr2 71058906 71058906 G T rs3213749 CD207 Synonymous SNV G254G 0.078 0.081 0.051 14 91 31 0.036 15 3 1 0 0 3.963 53926 chr2 71060037 71060037 A G rs6712863 CD207 Synonymous SNV S237S 0.104 0.115 0.078 21 122 44 0.054 23 10 3 0 0 8.337 53927 chr2 71061001 71061001 T A rs72836219 CD207 Nonsynonymous SNV E114V 0.102 0.112 0.071 21 120 43 0.054 21 10 3 0 0 0.057 53928 chr11 94261297 94261297 G A rs12802057 C11orf97 Nonsynonymous SNV G100S 0.04 0.039 0.048 13 47 15 0.033 14 0 0 0 0 14.7 53929 chr11 94278062 94278062 A G rs2230273 FUT4 Nonsynonymous SNV I255V 0.042 0.039 0.048 13 49 15 0.033 14 0 0 0 0 0.002 53930 chr2 71061051 71061051 C T rs41285965 CD207 Synonymous SNV K97K 0.078 0.078 0.051 14 91 30 0.036 15 3 1 0 0 6.706 53931 chr11 61109305 61109305 G A rs117064389 TKFC Synonymous SNV G192G 0.014 0.008 0.01 4 17 3 0.01 3 0 0 0 0 11.96 53932 chr11 94326720 94326720 A G rs34492831 PIWIL4 Nonsynonymous SNV M355V 0.022 0.026 0.01 12 26 10 0.031 3 1 0 0 0 Benign 0.079 53933 chr11 94335037 94335037 C A rs35885673 PIWIL4 Nonsynonymous SNV T486N 0.022 0.026 0.01 12 26 10 0.031 3 1 0 0 0 0.04 53934 chr1 236645609 236645609 C T rs114632254 EDARADD Nonsynonymous SNV S93F 0.027 0.031 0.054 11 32 12 0.028 16 0 1 0 0 Benign/Likely benign 27.8 53935 chr11 94602414 94602414 C T rs11020968 AMOTL1 Nonsynonymous SNV P797L 0.047 0.049 0.027 23 55 19 0.059 8 1 0 0 0 12.37 53936 chr2 106497856 106497856 C T NCK2 Nonsynonymous SNV P100L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 28 53937 chr11 61310122 61310122 C T rs113038217 SYT7 Nonsynonymous SNV G22S 0.019 0.018 0.014 2 22 7 0.005 4 1 0 0 0 16.68 53938 chr19 1581240 1581240 C T MBD3 Synonymous SNV T176T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 53939 chr2 107429612 107429612 A G rs200605446 ST6GAL2 Nonsynonymous SNV W463R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 2.309 53940 chr2 73680580 73680580 C T rs147001219 ALMS1 Nonsynonymous SNV T2308M 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.5 53941 chr2 107459974 107459974 C T rs3796110 ST6GAL2 Nonsynonymous SNV G154R 0.073 0.065 0.071 30 86 25 0.077 21 4 2 1 2 0.438 53942 chr19 15890625 15890625 C G rs11673423 CYP4F24P 0 0 0.701 0 0 0 0 206 0 0 74 0 5.913 53943 chr19 15890626 15890626 G A rs55782900 CYP4F24P 0 0 0.139 0 0 0 0 41 0 0 2 0 6.417 53944 chr11 71806057 71806057 G C rs149637884 LRTOMT Nonsynonymous SNV G100R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.74 53945 chr2 73188374 73188374 C T rs147436584 SFXN5 Nonsynonymous SNV R210Q 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 17.37 53946 chr11 70007770 70007770 T C rs2186797 ANO1 Nonsynonymous SNV F608S 0.055 0.055 0.041 20 64 21 0.051 12 1 0 1 0 29 53947 chr11 70189916 70189916 C T rs17160805 PPFIA1 Synonymous SNV L617L 0.034 0.034 0.02 10 40 13 0.026 6 1 0 1 0 9.225 53948 chr2 73491461 73491461 C T rs538832777 FBXO41 Nonsynonymous SNV R584H 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 34 53949 chr19 16146400 16146400 A G rs17683335 LINC00905 0 0 0.493 0 0 0 0 145 0 0 34 0 4.868 53950 chr2 109408159 109408159 G T rs35794776 CCDC138 Nonsynonymous SNV D94Y 0.085 0.104 0.065 45 100 40 0.115 19 6 2 0 4 18.06 53951 chr12 122018761 122018761 T C rs191586330 KDM2B Nonsynonymous SNV H19R 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 Likely benign 8.955 53952 chr11 62285402 62285402 C T rs141151380 AHNAK Nonsynonymous SNV G5496E 0.015 0.018 0 2 18 7 0.005 0 0 0 0 0 Benign 23.3 53953 chr2 75425764 75425764 - TACC TACR1 Stop gain Y99* 0.003 0 0 0 3 0 0 0 0 0 0 0 53954 chr11 73022632 73022632 T C rs772861401 ARHGEF17 Synonymous SNV A983A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.811 53955 chr2 80782876 80782876 G A rs34741453 CTNNA2 Synonymous SNV V212V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 12.01 53956 chr11 73105746 73105746 G C rs147659360 RELT Nonsynonymous SNV R338P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 53957 chr19 16314299 16314299 C T rs117647142 AP1M1 Synonymous SNV D24D 0.007 0.01 0.003 9 8 4 0.023 1 0 0 0 0 15.76 53958 chr19 16593573 16593573 G A rs10403020 CALR3 Synonymous SNV D234D 0.147 0.13 0.122 57 172 50 0.146 36 15 3 0 5 Benign 9.913 53959 chr2 110959026 110959026 G T rs33958626 NPHP1 Nonsynonymous SNV P39T 0.035 0.049 0.048 19 41 19 0.049 14 1 0 0 4 Benign 11.1 53960 chr2 74166053 74166053 G A rs62641680 DGUOK Synonymous SNV T53T 0.006 0.018 0.007 9 7 7 0.023 2 0 1 0 1 Benign 13.91 53961 chr2 84806753 84806753 A G rs140577999 DNAH6 Nonsynonymous SNV T727A 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 22.5 53962 chr2 74177777 74177777 A G rs74874677 DGUOK Nonsynonymous SNV Q73R 0.03 0.016 0.014 15 35 6 0.038 4 0 0 0 0 Benign 24.7 53963 chr2 74687781 74687781 G A rs61733470 WBP1 Synonymous SNV L261L 0.048 0.031 0.024 20 56 12 0.051 7 0 0 0 0 1.324 53964 chr19 16855892 16855892 G C rs148288566 NWD1 Nonsynonymous SNV G9R 0.007 0.013 0.017 3 8 5 0.008 5 0 0 0 0 3.657 53965 chr11 6238844 6238844 C T rs145525932 FAM160A2 Nonsynonymous SNV G658R 0.001 0 0.007 5 1 0 0.013 2 0 0 0 0 11.53 53966 chr2 75185808 75185808 - GGC rs528770146 POLE4 A7_G8insA 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 53967 chr12 101711340 101711340 C T rs138126922 UTP20 Synonymous SNV I879I 0.009 0.01 0.01 11 10 4 0.028 3 0 0 0 1 11.13 53968 chr1 240071318 240071318 C T rs201321896 CHRM3 Synonymous SNV I189I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.94 53969 chr1 240071834 240071834 G C rs113991226 CHRM3 Synonymous SNV T361T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.895 53970 chr12 101750757 101750757 A G UTP20 Nonsynonymous SNV D1863G 0.002 0.003 0 3 2 1 0.008 0 0 0 0 1 32 53971 chr12 122481879 122481879 A C rs34821485 BCL7A Nonsynonymous SNV N120T 0.043 0.044 0.071 13 50 17 0.033 21 0 0 2 0 0.001 53972 chr11 618675 618675 G A rs142670659 CDHR5 Synonymous SNV P622P 0.013 0.026 0.017 14 15 10 0.036 5 0 0 0 1 6.408 53973 chr19 17091356 17091356 C T rs61741489 CPAMD8 Synonymous SNV A512A 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 Benign 12.26 53974 chr11 62559351 62559351 T C rs118167825 TMEM223 Nonsynonymous SNV H39R 0.019 0.023 0.014 4 22 9 0.01 4 0 0 0 0 23.8 53975 chr19 17091381 17091381 G A rs61741485 CPAMD8 Nonsynonymous SNV T504I 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 0.215 53976 chr2 85981528 85981528 A C rs60333657 ATOH8 Synonymous SNV V72V 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 5.172 53977 chr19 17108052 17108052 C T rs62622858 CPAMD8 Nonsynonymous SNV V322M 0.052 0.055 0.058 8 61 21 0.021 17 3 0 0 0 Benign 25 53978 chr12 123466226 123466226 C T rs201978657 ARL6IP4 Nonsynonymous SNV S266F 0 0.003 0 0 0 1 0 0 0 0 0 0 28 53979 chr19 17108094 17108094 C T rs143454938 CPAMD8 Nonsynonymous SNV V308I 0.053 0.055 0.058 8 62 21 0.021 17 3 0 0 0 14.21 53980 chr11 74716517 74716517 C G rs199660611 NEU3 Nonsynonymous SNV L52V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.863 53981 chr19 17108098 17108098 C T rs112680414 CPAMD8 Synonymous SNV A306A 0.053 0.055 0.065 8 62 21 0.021 19 3 0 0 0 13.74 53982 chr11 74800176 74800176 A G rs759492299 OR2AT4 Nonsynonymous SNV S195P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 53983 chr2 88383970 88383970 G A rs61748137 SMYD1 Synonymous SNV S91S 0.074 0.047 0.054 20 87 18 0.051 16 2 0 0 0 7.793 53984 chr2 119604547 119604547 G A EN1 Nonsynonymous SNV P66L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 53985 chr2 119751997 119751997 T C rs34536804 MARCO Synonymous SNV C488C 0.021 0.021 0.017 12 25 8 0.031 5 0 0 0 0 0.014 53986 chr11 6291120 6291120 G A rs1805002 CCKBR Nonsynonymous SNV V125I 0.041 0.044 0.041 20 48 17 0.051 12 1 0 0 2 21.7 53987 chr1 247040261 247040261 A C rs142727111 AHCTF1 Nonsynonymous SNV I976M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.071 53988 chr12 104379506 104379506 - TTGAGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGT rs765686214 TDG Frameshift insertion G234Lfs*6 0.001 0.008 0 0 1 3 0 0 0 0 0 0 53989 chr12 104393227 104393227 A G rs1050116852 GLT8D2 Nonsynonymous SNV V117A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 53990 chr12 124422262 124422262 G A rs35794481 CCDC92 Synonymous SNV N96N 0.047 0.055 0.034 16 55 21 0.041 10 1 0 0 1 4.507 53991 chr11 62415271 62415271 G A INTS5 Nonsynonymous SNV P761S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.45 53992 chr19 17516142 17516142 A G rs34737311 BST2 Synonymous SNV F81F 0.015 0.003 0.017 15 18 1 0.038 5 0 0 0 0 1.243 53993 chr11 6341397 6341397 C T rs10839551 CAVIN3 Nonsynonymous SNV A104T 0.012 0.01 0.014 6 14 4 0.015 4 0 0 0 0 25.9 53994 chr2 120221698 120221698 C T rs751678260 SCTR 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 53995 chr2 95943170 95943170 G A rs73625087 PROM2 Synonymous SNV Q277Q 0.02 0.01 0.027 5 24 4 0.013 8 0 0 0 0 Benign 0.114 53996 chr2 86272758 86272758 G A rs1561328 POLR1A Synonymous SNV L956L 0.07 0.112 0.088 23 82 43 0.059 26 4 2 1 0 12.46 53997 chr19 17679370 17679370 G A rs147899199 COLGALT1 Nonsynonymous SNV R226Q 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 15.33 53998 chr2 86406556 86406556 C T rs17027011 IMMT Synonymous SNV S103S 0.064 0.091 0.075 21 75 35 0.054 22 3 2 1 0 13.48 53999 chr2 122489685 122489685 T C rs61740132 NIFK Synonymous SNV E113E 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 4.455 54000 chr1 247978135 247978135 C A rs12734733 OR14A16 Synonymous SNV G299G 0.162 0.135 0.16 52 190 52 0.133 47 23 5 4 6 11.81 54001 chr19 17922768 17922768 C T rs76106223 B3GNT3 Nonsynonymous SNV T319M 0.014 0.005 0.02 4 17 2 0.01 6 0 0 0 0 Benign 23.8 54002 chr2 98810904 98810904 A G rs139485698 VWA3B Synonymous SNV E219E 0.009 0.01 0.01 4 11 4 0.01 3 0 0 0 0 Benign 4.805 54003 chr2 99232993 99232993 A G rs114644306 UNC50 Nonsynonymous SNV S214G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 54004 chr11 64359151 64359151 G A rs144313367 SLC22A12 Synonymous SNV S41S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Likely benign 8.598 54005 chr11 63992349 63992349 T - rs777676465 TRPT1 K84Sfs*32 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 54006 chr2 100170858 100170858 C T rs141110020 AFF3 Synonymous SNV A1183A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.5 54007 chr2 97526872 97526872 C T rs145704940 SEMA4C Nonsynonymous SNV V665M 0.008 0.016 0.003 6 9 6 0.015 1 0 0 0 0 16.94 54008 chr2 97526963 97526963 C T rs71427097 SEMA4C Synonymous SNV A634A 0.028 0.042 0.024 13 33 16 0.033 7 0 0 0 0 10.95 54009 chr11 64023270 64023270 C T rs12419663 PLCB3 Synonymous SNV D158D 0.011 0.013 0.01 5 13 5 0.013 3 0 0 0 0 12.1 54010 chr11 78369573 78369573 C T rs75922333 TENM4 Nonsynonymous SNV V2614M 0.008 0.016 0 4 9 6 0.01 0 0 0 0 0 10.99 54011 chr12 109831196 109831196 G A rs377328976 MYO1H Nonsynonymous SNV V63M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 4.662 54012 chr2 99160392 99160392 C A rs377398401 INPP4A Synonymous SNV R291R 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 21 54013 chr11 7981261 7981261 C T rs116880092 NLRP10 Nonsynonymous SNV G633E 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 0.225 54014 chr12 110231780 110231780 G A rs141295418 TRPV4 Synonymous SNV G406G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 14.03 54015 chr12 110385079 110385079 G T rs2063388 GIT2 Synonymous SNV L490L 0.025 0.029 0.048 13 29 11 0.033 14 1 0 0 0 0.846 54016 chr11 64854545 64854545 C T rs148806624 ZFPL1 Synonymous SNV H209H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.018 54017 chr12 110474070 110474070 T C rs2287174 ANKRD13A Nonsynonymous SNV L505P 0.025 0.029 0.048 13 29 11 0.033 14 1 0 0 0 15.09 54018 chr11 8132301 8132301 C T rs11826236 RIC3 Nonsynonymous SNV D170N 0.032 0.026 0.024 13 37 10 0.033 7 1 0 0 0 12.03 54019 chr11 8159857 8159857 C T rs55990541 RIC3 Nonsynonymous SNV C130Y 0.032 0.026 0.024 13 37 10 0.033 7 1 0 0 0 20.2 54020 chr2 136533827 136533827 C G rs559209921 UBXN4 Nonsynonymous SNV A320G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 54021 chr11 8159884 8159884 C G rs80168649 RIC3 Nonsynonymous SNV G121A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 25.1 54022 chr12 110841439 110841439 C G rs138457092 ANAPC7 Nonsynonymous SNV Q32H 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 21.4 54023 chr19 19017862 19017862 G A rs10330 COPE Nonsynonymous SNV T117I 0.12 0.117 0.122 50 141 45 0.128 36 5 3 4 5 19.04 54024 chr12 133354313 133354313 T C rs148310828 GOLGA3 Nonsynonymous SNV K1221E 0.05 0.055 0.044 13 59 21 0.033 13 2 0 1 0 24.7 54025 chr12 110922929 110922929 G T rs7956133 FAM216A Synonymous SNV L77L 0.022 0.026 0.044 14 26 10 0.036 13 1 0 0 0 8.641 54026 chr11 64972251 64972251 C G rs377683527 CAPN1 Synonymous SNV L421L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.34 54027 chr12 110960196 110960196 G A rs34513555 RAD9B Nonsynonymous SNV G172R 0.022 0.026 0.044 14 26 10 0.036 13 1 0 0 0 2.514 54028 chr12 133384516 133384516 T C rs118103768 GOLGA3 Nonsynonymous SNV N380S 0.025 0.036 0.031 8 29 14 0.021 9 0 0 0 0 0.969 54029 chr11 64985072 64985072 G A rs76431162 SLC22A20P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.256 54030 chr19 1952841 1952841 T C rs2396366 CSNK1G2-AS1 0 0 0.575 0 0 0 0 169 0 0 45 0 1.403 54031 chr19 1954126 1954126 - A rs34622118 CSNK1G2-AS1 0 0 0.561 0 0 0 0 165 0 0 51 0 54032 chr19 1954128 1954128 T C rs34797288 CSNK1G2-AS1 0 0 0.558 0 0 0 0 164 0 0 51 0 1.683 54033 chr11 64706033 64706033 C T rs551760263 MAJIN Synonymous SNV P165P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.51 54034 chr12 11214360 11214360 C T rs73260771 TAS2R46 Synonymous SNV T178T 0.127 0.138 0.173 45 149 53 0.115 51 0 0 4 0 8.792 54035 chr12 13364484 13364484 G A rs147023177 EMP1 Nonsynonymous SNV A14T 0.011 0.01 0.014 5 13 4 0.013 4 0 0 0 0 24.1 54036 chr12 11214392 11214392 G A rs200937291 TAS2R46 Synonymous SNV L168L 0.026 0.01 0.003 1 31 4 0.003 1 0 0 0 0 0.718 54037 chr19 1997354 1997354 G A rs143677178 BTBD2 Synonymous SNV L172L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.472 54038 chr12 11214437 11214437 T C rs72477410 TAS2R46 Nonsynonymous SNV I153V 0.045 0.029 0 7 53 11 0.018 0 0 0 0 0 0.001 54039 chr12 11214455 11214455 T C rs72477411 TAS2R46 Nonsynonymous SNV I147V 0.055 0.047 0.003 10 65 18 0.026 1 0 0 0 0 0.001 54040 chr2 112779952 112779952 G C rs55924349 MERTK Nonsynonymous SNV E823Q 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Uncertain significance 24.3 54041 chr2 152220510 152220510 A G rs75961064 TNFAIP6 Nonsynonymous SNV T50A 0.019 0.016 0.024 2 22 6 0.005 7 0 0 0 0 25.7 54042 chr2 102781629 102781629 G A rs3917286 IL1R1 Synonymous SNV E117E 0.02 0.021 0.017 7 24 8 0.018 5 0 0 0 0 9.688 54043 chr2 102791086 102791086 C T rs28362304 IL1R1 Nonsynonymous SNV T200M 0.021 0.021 0.017 7 25 8 0.018 5 0 0 0 0 2.125 54044 chr2 113482465 113482465 G A rs72823531 NT5DC4 Synonymous SNV T273T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 9.62 54045 chr2 102851470 102851470 G A rs75091099 IL1RL2 Nonsynonymous SNV A329T 0.021 0.018 0.017 7 25 7 0.018 5 0 0 0 0 22 54046 chr11 8642028 8642028 G A rs138444298 TRIM66 Nonsynonymous SNV R1037W 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 24.4 54047 chr2 152226616 152226616 A G rs78264792 TNFAIP6 Synonymous SNV Q159Q 0.019 0.016 0.024 2 22 6 0.005 7 0 0 0 0 2.519 54048 chr11 65363137 65363137 G T rs935705943 KCNK7 Nonsynonymous SNV A36E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.146 54049 chr19 21606230 21606230 A G rs148183266 ZNF493 Nonsynonymous SNV R129G 0.027 0.018 0.027 4 32 7 0.01 8 0 0 0 0 23.3 54050 chr19 21606231 21606231 G T rs142910830 ZNF493 Nonsynonymous SNV R129I 0.027 0.018 0.027 4 32 7 0.01 8 0 0 0 0 3.42 54051 chr12 15102790 15102790 G A rs576972797 ARHGDIB Nonsynonymous SNV R71W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 54052 chr2 105954140 105954140 G A rs55772482 C2orf49 Synonymous SNV E32E 0.055 0.052 0.044 17 64 20 0.044 13 8 1 1 0 9.573 54053 chr11 8751898 8751898 C T DENND2B Synonymous SNV G313G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.421 54054 chr12 113533150 113533150 C T rs61758446 DTX1 Synonymous SNV P523P 0.015 0.018 0.01 5 18 7 0.013 3 0 0 0 0 12.85 54055 chr11 88300677 88300677 C T rs767750927 GRM5 Nonsynonymous SNV S725N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 54056 chr12 113612574 113612574 G A rs12811662 DDX54 Synonymous SNV T313T 0.014 0.008 0.007 3 17 3 0.008 2 0 0 0 0 5.161 54057 chr12 1137170 1137170 G A rs745911310 ERC1 Nonsynonymous SNV R34Q 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 33 54058 chr19 22784349 22784349 C T rs62121319 GOLGA2P9 0 0 0.044 0 0 0 0 13 0 0 0 0 4.14 54059 chr19 22785134 22785134 T C rs11670207 GOLGA2P9 0 0 0.156 0 0 0 0 46 0 0 6 0 1.189 54060 chr19 22785299 22785299 T G rs11670278 GOLGA2P9 0 0 0.105 0 0 0 0 31 0 0 2 0 5.099 54061 chr19 22786041 22786041 A G rs62121323 GOLGA2P9 0 0 0.048 0 0 0 0 14 0 0 0 0 0.226 54062 chr19 22786126 22786126 T A rs2304143 GOLGA2P9 0 0 0.156 0 0 0 0 46 0 0 5 0 4.148 54063 chr12 1702912 1702912 C T rs35466364 FBXL14 Synonymous SNV G107G 0.06 0.065 0.071 22 70 25 0.056 21 1 2 0 1 10.92 54064 chr19 23543107 23543107 T A rs188927670 ZNF91 Nonsynonymous SNV I860F 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 0.003 54065 chr12 1755001 1755001 C T rs771908570 WNT5B Synonymous SNV G221G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.88 54066 chr2 272051 272051 C T rs11553742 ACP1 Synonymous SNV S44S 0.074 0.047 0.048 19 87 18 0.049 14 4 0 0 0 17.77 54067 chr12 116403920 116403920 G A rs3088260 MED13L Synonymous SNV P2118P 0.083 0.13 0.099 42 98 50 0.108 29 3 2 1 5 10.86 54068 chr2 109400267 109400267 C T rs10185197 RANBP2 Synonymous SNV G3195G 0.003 0 0.01 4 4 0 0.01 3 0 0 1 0 Benign 10.96 54069 chr2 109411147 109411147 C T rs13424880 CCDC138 Synonymous SNV D177D 0.007 0 0.017 4 8 0 0.01 5 0 0 1 0 9.598 54070 chr12 1940590 1940590 C G rs775676089 LRTM2 Nonsynonymous SNV P186R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 54071 chr19 2733328 2733328 G A rs375353023 SLC39A3 Synonymous SNV N122N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.53 54072 chr11 89880604 89880604 G A rs11018879 NAALAD2 Nonsynonymous SNV V101I 0.016 0.013 0.027 12 19 5 0.031 8 0 0 1 0 18.13 54073 chr19 28296516 28296516 T C rs4638713 LOC101927151 0 0 0.054 0 0 0 0 16 0 0 8 0 1.99 54074 chr19 2834595 2834595 C T rs61744481 ZNF554 Synonymous SNV H454H 0.028 0.049 0.037 12 33 19 0.031 11 0 1 0 0 12.37 54075 chr11 65425804 65425804 G A rs147357241 RELA Synonymous SNV D274D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.519 54076 chr2 1946771 1946776 TCCTCC - rs148009982 MYT1L E166_E167del 0.025 0.029 0.031 11 29 11 0.028 9 0 0 0 0 54077 chr11 92087933 92087933 C T rs184000863 FAT3 Synonymous SNV I885I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.42 54078 chr2 120209633 120209633 C T rs140893531 SCTR Nonsynonymous SNV A292T 0.015 0.013 0.017 6 18 5 0.015 5 1 0 0 0 Likely benign 10.75 54079 chr2 120221711 120221711 G A rs141567872 SCTR Synonymous SNV C208C 0.015 0.013 0.017 6 18 5 0.015 5 1 0 0 0 Benign 5.743 54080 chr2 113332592 113332592 G A rs149946383 POLR1B Synonymous SNV P687P 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 3.944 54081 chr19 307502 307502 G A rs138293433 MIER2 Synonymous SNV L375L 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 5.777 54082 chr2 160289279 160289279 T C rs953905982 BAZ2B Nonsynonymous SNV D567G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 54083 chr19 3204667 3204667 G A rs779583401 NCLN Nonsynonymous SNV A376T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 54084 chr11 92895874 92895874 T C rs146679457 SLC36A4 Synonymous SNV V210V 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 9.877 54085 chr2 7179879 7179879 G A rs116762840 RNF144A Synonymous SNV P206P 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 7.573 54086 chr12 21069022 21069022 A G SLCO1B3 Synonymous SNV K622K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 54087 chr12 121174938 121174938 C T rs76543640 ACADS Synonymous SNV N120N 0.02 0.016 0.007 8 24 6 0.021 2 0 0 0 0 Benign 4.744 54088 chr2 10188124 10188124 G A rs756085879 KLF11 Synonymous SNV T203T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.251 54089 chr11 65733230 65733230 G A rs370631644 SART1 Nonsynonymous SNV E240K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 31 54090 chr11 66101603 66101603 C T rs202010918 RIN1 Nonsynonymous SNV G432S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.3 54091 chr2 163002166 163002166 G A rs756760173 GCG Synonymous SNV H92H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.265 54092 chr12 21689995 21689995 C T rs142656537 GYS2 Nonsynonymous SNV D669N 0.007 0.01 0 0 8 4 0 0 0 0 0 0 Benign 17.98 54093 chr2 128464116 128464116 G A rs34550770 WDR33 Synonymous SNV G1264G 0.131 0.115 0.078 48 154 44 0.123 23 13 3 2 1 9.466 54094 chr2 10580967 10580967 G A rs1049500 ODC1 Synonymous SNV P294P 0.043 0.052 0.041 17 51 20 0.044 12 0 1 0 0 6.487 54095 chr2 128938626 128938626 C G rs990854990 UGGT1 Nonsynonymous SNV L1355V 0.005 0 0 0 6 0 0 0 0 0 0 0 23.7 54096 chr19 33584352 33584352 G C rs150894192 GPATCH1 Nonsynonymous SNV A128P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 24 54097 chr12 121605373 121605373 G A rs7958316 P2RX7 Nonsynonymous SNV R276H 0.03 0.034 0.024 17 35 13 0.044 7 0 0 0 0 24.2 54098 chr2 131672686 131672686 G A ARHGEF4 Synonymous SNV P389P 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 6.673 54099 chr19 34263200 34263200 - AGC rs758685180 CHST8 S172_R173insS 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 54100 chr2 11927238 11927238 G A rs33997857 LPIN1 Nonsynonymous SNV V494M 0.035 0.034 0.034 13 41 13 0.033 10 1 0 0 1 Benign/Likely benign 27 54101 chr19 35487055 35487055 C T rs118155315 GRAMD1A Synonymous SNV A43A 0.013 0.021 0.014 4 15 8 0.01 4 0 0 0 0 4.749 54102 chr19 35510304 35510304 C T rs73038384 GRAMD1A Nonsynonymous SNV R441W 0.026 0.021 0.01 6 30 8 0.015 3 0 0 0 0 35 54103 chr11 6648137 6648137 G A rs147594191 DCHS1 Nonsynonymous SNV R2045C 0.012 0.005 0 12 14 2 0.031 0 0 0 0 0 29.8 54104 chr11 96116637 96116637 C T rs368959188 CCDC82 Nonsynonymous SNV D263N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.3 54105 chr2 135470781 135470781 A G TMEM163 Nonsynonymous SNV V104A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 54106 chr12 27628637 27628637 T - SMCO2 I162Kfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 54107 chr11 66611069 66611069 C G rs189678026 RCE1 Nonsynonymous SNV S48C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.71 54108 chr11 67075131 67075131 C T rs57238619 SSH3 Synonymous SNV S238S 0.023 0.01 0.014 6 27 4 0.015 4 0 0 0 0 15.22 54109 chr11 67160961 67160961 A G rs2066496 RAD9A Star tloss M1? 0.069 0.063 0.058 19 81 24 0.049 17 4 2 0 0 0.184 54110 chr11 9595574 9595574 G T WEE1 Nonsynonymous SNV D32Y 0.009 0.005 0 0 10 2 0 0 0 0 0 0 26.3 54111 chr2 128263014 128263014 G A rs139177686 IWS1 Synonymous SNV P155P 0 0 0 3 0 0 0.008 0 0 0 0 0 2.541 54112 chr11 67200812 67200812 C T rs55987642 RPS6KB2 Nonsynonymous SNV P267L 0.044 0.052 0.034 15 52 20 0.038 10 2 1 0 0 19.89 54113 chr19 3612819 3612819 G A rs62130601 CACTIN-AS1 0 0 0.126 0 0 0 0 37 0 0 3 0 1.717 54114 chr2 20130259 20130259 G A rs56395266 WDR35 Nonsynonymous SNV R1007C 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Benign 25.3 54115 chr12 123345509 123345509 G T rs34149579 HIP1R Nonsynonymous SNV C938F 0.01 0.013 0.02 4 12 5 0.01 6 0 0 0 0 24.9 54116 chr2 128393862 128393862 G A rs200072803 MYO7B Nonsynonymous SNV R2003Q 0.007 0.005 0.003 7 8 2 0.018 1 0 0 0 0 26.8 54117 chr11 67203442 67203442 C T rs60969594 PTPRCAP Nonsynonymous SNV G128E 0.022 0.013 0.02 5 26 5 0.013 6 1 0 0 0 0.007 54118 chr11 99941283 99941283 C T rs61749257 CNTN5 Synonymous SNV L356L 0.029 0.013 0.034 17 34 5 0.044 10 1 0 0 0 6.806 54119 chr19 36339247 36339247 C T rs33950747 NPHS1 Nonsynonymous SNV R408Q 0.035 0.031 0.024 20 41 12 0.051 7 0 0 0 1 Benign/Likely benign 32 54120 chr2 128528436 128528436 C T rs140087774 WDR33 Synonymous SNV Q40Q 0.024 0.013 0.014 9 28 5 0.023 4 1 0 0 0 10.25 54121 chr12 30906445 30906445 C A CAPRIN2 Nonsynonymous SNV A85S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 54122 chr2 141072519 141072519 C G rs17386226 LRP1B Nonsynonymous SNV V4264L 0.023 0.013 0.024 8 27 5 0.021 7 0 0 1 0 6.057 54123 chr12 101603483 101603483 G T rs147835898 SLC5A8 Synonymous SNV G48G 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 12.96 54124 chr2 171627648 171627648 G A rs988734136 ERICH2 Nonsynonymous SNV A153T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.889 54125 chr12 101703546 101703546 G A rs139171605 UTP20 Synonymous SNV P720P 0.032 0.023 0.017 15 38 9 0.038 5 0 0 0 0 11.5 54126 chr2 152108045 152108045 A - RBM43 I150Tfs*18 0.006 0 0 1 7 0 0.003 0 0 0 0 0 54127 chr2 152127207 152127207 C T rs762712324 NMI Synonymous SNV X308X 0.006 0 0 1 7 0 0.003 0 0 0 0 0 14.78 54128 chr19 36912179 36912179 A - rs58875323 LOC644189 0 0 0.282 0 0 0 0 83 0 0 18 0 54129 chr12 124821666 124821666 G A rs61751354 NCOR2 Synonymous SNV C1906C 0.02 0.023 0.017 8 23 9 0.021 5 0 0 0 0 6.378 54130 chr2 21226158 21226158 G A rs200222843 APOB Nonsynonymous SNV R4046W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 22.6 54131 chr2 173900873 173900873 G A rs34253418 RAPGEF4 Synonymous SNV R687R 0.018 0.023 0.02 4 21 9 0.01 6 0 0 0 0 12.66 54132 chr19 37065732 37065732 A C rs2912406 ZNF529-AS1 0 0 0.32 0 0 0 0 94 0 0 13 0 1.08 54133 chr11 6790087 6790087 T C rs751713265 OR2AG2 Synonymous SNV L34L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.016 54134 chr2 21238323 21238323 G A rs72653077 APOB Nonsynonymous SNV P1143S 0.011 0.003 0.003 3 13 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.009 54135 chr2 174131392 174131392 T C rs35608243 MAP3K20 Nonsynonymous SNV Y773H 0.075 0.094 0.105 23 88 36 0.059 31 3 0 1 0 13.2 54136 chr2 21365673 21365673 G T TDRD15 Nonsynonymous SNV Q1778H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.471 54137 chr12 10339178 10339178 C T rs4764308 TMEM52B Synonymous SNV S79S 0.022 0.013 0.014 10 26 5 0.026 4 2 0 0 0 12.9 54138 chr2 23916383 23916383 C A rs61729937 KLHL29 Synonymous SNV P509P 0.005 0.005 0.027 3 6 2 0.008 8 0 0 0 0 20.5 54139 chr2 176043097 176043097 A G rs8106 ATP5MC3 Synonymous SNV Y116Y 0.039 0.036 0.02 10 46 14 0.026 6 2 0 0 0 Benign 0.709 54140 chr2 24056876 24056876 A G rs200008134 ATAD2B Synonymous SNV A547A 0.009 0.003 0.007 0 11 1 0 2 0 0 0 0 9.328 54141 chr2 176995137 176995145 GCGGCGGCT - rs764664828 HOXD8 A21_A23del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 54142 chr12 104379508 104379508 - GGAGTTAAGAGGAGAATCAGCTTTCAGTGGC TDG 0.015 0.016 0 7 18 6 0.018 0 0 0 0 0 54143 chr12 104697761 104697761 A G rs766144686 EID3 Nonsynonymous SNV S17G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.019 54144 chr2 136594119 136594119 G T rs369174474 LCT Nonsynonymous SNV H207Q 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 0.006 54145 chr2 155566118 155566118 C T KCNJ3 Nonsynonymous SNV R236W 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 34 54146 chr12 104099449 104099449 A G rs141268508 STAB2 Nonsynonymous SNV M1314V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.011 54147 chr2 25047331 25047331 C T ADCY3 Nonsynonymous SNV M885I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 54148 chr12 104373710 104373710 A G rs150152878 TDG Nonsynonymous SNV K90E 0.008 0.008 0 0 9 3 0 0 0 0 0 0 9.506 54149 chr2 140992440 140992440 C T rs143263597 LRP1B Nonsynonymous SNV G4525E 0.001 0 0.007 5 1 0 0.013 2 0 0 0 0 23 54150 chr12 104487253 104487253 G A rs142462488 HCFC2 Synonymous SNV T458T 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 13.46 54151 chr2 25973060 25973060 C T rs33994557 ASXL2 Synonymous SNV P195P 0.075 0.078 0.065 32 88 30 0.082 19 3 0 1 3 5.518 54152 chr2 26022277 26022277 T C rs34816614 ASXL2 Nonsynonymous SNV K69R 0.076 0.078 0.065 32 89 30 0.082 19 4 0 1 3 3.325 54153 chr12 4479752 4479752 G A rs143050343 FGF23 Synonymous SNV T171T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.73 54154 chr12 106632991 106632991 T C rs370175498 CKAP4 Synonymous SNV K540K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.011 54155 chr2 148696810 148696810 G A rs75002266 ORC4 Nonsynonymous SNV A202V 0.008 0.021 0.007 4 9 8 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.79 54156 chr19 38189694 38189694 G A rs117357379 ZNF607 Synonymous SNV Y445Y 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 5.82 54157 chr12 4724995 4724995 C T rs34215645 AKAP3 Synonymous SNV V824V 0.009 0.016 0.003 3 10 6 0.008 1 0 0 0 0 Benign 10.76 54158 chr11 6942394 6942394 C T rs372928530 OR2D3 Synonymous SNV T54T 0.004 0 0 0 5 0 0 0 0 0 0 0 9.909 54159 chr11 7063792 7063792 G A rs149541731 NLRP14 Nonsynonymous SNV V179M 0.013 0.016 0.017 2 15 6 0.005 5 0 0 0 0 24.2 54160 chr12 107712880 107712880 C T rs10082935 BTBD11 Synonymous SNV L55L 0.149 0.13 0.16 68 175 50 0.174 47 12 3 5 5 11.45 54161 chr2 160604514 160604514 C T rs76774368 MARCHF7 Nonsynonymous SNV T182M 0.014 0.013 0.017 12 16 5 0.031 5 0 0 0 0 15.88 54162 chr12 132402044 132402044 C A rs55693180 ULK1 Synonymous SNV G757G 0.011 0.008 0.003 1 13 3 0.003 1 0 0 0 0 Benign 12.65 54163 chr2 160604541 160604541 G A rs148440689 MARCHF7 Nonsynonymous SNV S191N 0.012 0.013 0.014 10 14 5 0.026 4 0 0 0 0 9.356 54164 chr12 108686549 108686549 A G rs192034694 CMKLR1 Nonsynonymous SNV I64T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 25.5 54165 chr12 132624434 132624434 T C rs61729150 DDX51 Nonsynonymous SNV Q604R 0.011 0.005 0.007 4 13 2 0.01 2 0 0 0 0 0.518 54166 chr2 160690656 160690656 G A rs78446341 LY75, LY75-CD302 Nonsynonymous SNV P1247L 0.01 0.013 0.014 10 12 5 0.026 4 0 0 0 0 24.1 54167 chr11 71627159 71627159 C A rs80164817 LOC100133315 0.049 0.042 0.041 19 58 16 0.049 12 1 0 1 1 10.08 54168 chr12 107713674 107713674 C G BTBD11 Synonymous SNV A319A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 54169 chr11 71701763 71701763 G A rs35844388 RNF121 Synonymous SNV G177G 0.041 0.031 0.034 15 48 12 0.038 10 0 0 1 1 14.53 54170 chr12 48359984 48359984 C T rs2286025 TMEM106C Nonsynonymous SNV S175F 0.06 0.086 0.092 33 70 33 0.085 27 2 1 1 1 24.1 54171 chr11 71706544 71706544 A G rs34075366 RNF121 Nonsynonymous SNV K197R 0.05 0.042 0.041 19 59 16 0.049 12 1 0 1 1 4.918 54172 chr12 48367976 48367976 C T rs2070739 COL2A1 Nonsynonymous SNV G1336S 0.058 0.083 0.088 33 68 32 0.085 26 2 1 1 1 Benign 26.1 54173 chr11 71717106 71717106 G A rs61745941 NUMA1 Synonymous SNV A1875A 0.043 0.031 0.034 15 50 12 0.038 10 0 0 1 0 12.13 54174 chr12 48368085 48368085 G A rs12721379 COL2A1 Synonymous SNV P1299P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 11.2 54175 chr11 71726168 71726168 G C rs3750913 NUMA1 Nonsynonymous SNV A794G 0.042 0.031 0.034 15 49 12 0.038 10 0 0 1 0 23.2 54176 chr11 71728914 71728914 C T rs111660939 LOC100128494 0.042 0.039 0.02 18 49 15 0.046 6 1 1 1 1 0.789 54177 chr12 48391657 48391657 T A rs34392760 COL2A1 Nonsynonymous SNV E73D 0.066 0.049 0.058 18 78 19 0.046 17 5 0 0 1 Benign 14.6 54178 chr12 133226035 133226035 C T rs200398117 POLE Nonsynonymous SNV A1288T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 54179 chr11 71821236 71821236 A G rs17161980 ANAPC15 Synonymous SNV D72D 0.066 0.049 0.061 26 77 19 0.067 18 1 0 1 0 Likely benign 0.316 54180 chr12 133226313 133226313 C T rs762626359 POLE Nonsynonymous SNV V1249M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 15.73 54181 chr19 39694816 39694816 C T rs200026329 SYCN Nonsynonymous SNV A27T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 54182 chr11 72404376 72404376 C T rs770901352 ARAP1 Synonymous SNV E1010E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.95 54183 chr11 71146837 71146837 C T rs72954276 DHCR7 Nonsynonymous SNV V338M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.578 54184 chr12 48543237 48543237 C T rs75959434 ASB8 Nonsynonymous SNV R260H 0.05 0.047 0.051 25 59 18 0.064 15 4 0 0 1 14.43 54185 chr11 73019982 73019982 G A rs190347430 ARHGEF17 Nonsynonymous SNV G100E 0.021 0.034 0.034 13 25 13 0.033 10 0 1 0 0 12.64 54186 chr12 133698398 133698398 G A rs61749570 ZNF891 Nonsynonymous SNV T36I 0.029 0.023 0.01 5 34 9 0.013 3 2 0 0 0 1.58 54187 chr11 71727609 71727609 G A rs150792074 LOC100128494 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.127 54188 chr2 28847975 28847975 C T rs778113518 PLB1 Synonymous SNV P1182P 0.008 0.003 0 0 9 1 0 0 0 0 0 0 5.94 54189 chr11 71942104 71942104 C T rs17162091 INPPL1 Synonymous SNV D456D 0.007 0.013 0.024 4 8 5 0.01 7 0 0 0 0 10.64 54190 chr11 71943960 71943960 C A rs61749194 INPPL1 Synonymous SNV L631L 0.007 0.013 0.024 4 8 5 0.01 7 0 0 0 0 12.72 54191 chr11 71943961 71943961 C A rs61749195 INPPL1 Nonsynonymous SNV L632I 0.007 0.013 0.024 4 8 5 0.01 7 0 0 0 0 29.2 54192 chr11 71945332 71945332 A G rs61736312 INPPL1 Synonymous SNV S740S 0.059 0.047 0.071 20 69 18 0.051 21 3 0 1 0 0.024 54193 chr11 71948536 71948536 C G rs11548491 INPPL1 Nonsynonymous SNV A1083G 0.058 0.047 0.071 20 68 18 0.051 21 3 0 1 0 1.075 54194 chr12 49065606 49065606 G A rs762185782 KANSL2 Nonsynonymous SNV R229C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 54195 chr12 111353556 111353556 A G rs2301610 MYL2 Synonymous SNV I44I 0.079 0.065 0.099 42 93 25 0.108 29 6 0 1 2 Benign 10.11 54196 chr2 167141109 167141109 G T rs41268673 SCN9A Nonsynonymous SNV P610T 0.044 0.029 0.048 24 52 11 0.062 14 1 0 1 0 Benign/Likely benign 0.62 54197 chr2 29296971 29296971 C T PCARE Nonsynonymous SNV A53T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.012 54198 chr12 49437990 49437990 G A rs201686029 KMT2D Synonymous SNV P1727P 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.74 54199 chr11 76503806 76503806 G A rs147288846 TSKU Synonymous SNV T9T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.524 54200 chr11 76506911 76506911 C T rs989267290 TSKU Nonsynonymous SNV T84M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 54201 chr11 73716974 73716974 G A rs138565412 UCP3 Synonymous SNV S114S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.065 54202 chr12 111785663 111785663 A G rs544531932 CUX2 Nonsynonymous SNV H1270R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.004 54203 chr2 167313451 167313451 T C rs11888208 SCN7A Nonsynonymous SNV I407V 0.162 0.174 0.156 72 190 67 0.185 46 16 5 3 6 0.094 54204 chr2 31562412 31562412 C T rs207440 XDH Synonymous SNV E1239E 0.047 0.042 0.044 13 55 16 0.033 13 0 0 0 0 Benign/Likely benign 13.57 54205 chr12 112369434 112369434 G C TMEM116 Synonymous SNV T300T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.863 54206 chr12 112460215 112460215 A G rs147970597 ERP29 Nonsynonymous SNV K182R 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 4.574 54207 chr12 112605639 112605639 G A rs762963748 HECTD4 Synonymous SNV S4107S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.29 54208 chr2 172337549 172337549 A G DCAF17 Synonymous SNV R429R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 3.663 54209 chr2 33447170 33447170 A G LTBP1 Nonsynonymous SNV M284V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.433 54210 chr2 168104370 168104370 A C rs61748715 XIRP2 Synonymous SNV T1934T 0.058 0.102 0.082 43 68 39 0.11 24 3 1 0 1 0.003 54211 chr11 76922868 76922868 C T rs41298757 MYO7A Synonymous SNV S2080S 0.06 0.049 0.051 26 70 19 0.067 15 1 1 0 1 Benign/Likely benign 7.02 54212 chr2 173423458 173423458 G A rs149724601 PDK1 Synonymous SNV K73K 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.39 54213 chr11 76944178 76944178 G A rs17751194 GDPD4 Synonymous SNV T427T 0.016 0.018 0.014 9 19 7 0.023 4 0 1 0 0 8.867 54214 chr11 7530973 7530973 G C rs145126964 OLFML1 Nonsynonymous SNV G119R 0.005 0 0 0 6 0 0 0 0 0 0 0 23.7 54215 chr11 75439166 75439166 C T rs3740845 MOGAT2 Synonymous SNV F209F 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 17.37 54216 chr19 43031324 43031324 C T rs758867188 CEACAM1 Nonsynonymous SNV R98Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 54217 chr11 75905782 75905782 G A rs113693154 WNT11 Synonymous SNV P142P 0.011 0.003 0 1 13 1 0.003 0 0 0 0 0 12.12 54218 chr11 77412646 77412646 G A rs72947646 RSF1 Nonsynonymous SNV S543F 0.015 0.018 0.027 8 18 7 0.021 8 0 0 0 0 16.65 54219 chr11 77412755 77412755 C T rs141555749 RSF1 Nonsynonymous SNV A507T 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 0.001 54220 chr11 77727684 77727684 G A rs368467821 KCTD14 Synonymous SNV N241N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.971 54221 chr11 77835098 77835098 T C rs140499974 ALG8 Nonsynonymous SNV M113V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 19.63 54222 chr12 113616968 113616968 T C rs992734125 DDX54 Nonsynonymous SNV T182A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.3 54223 chr12 113623217 113623217 G C rs141235407 DDX54 Nonsynonymous SNV R14G 0.032 0.034 0.048 14 37 13 0.036 14 1 0 1 0 0.292 54224 chr2 178969039 178969039 G A rs75672043 PDE11A Nonsynonymous SNV T51I 0.117 0.102 0.119 51 137 39 0.131 35 8 1 2 4 5.619 54225 chr2 169851916 169851916 A G rs759605607 ABCB11 Nonsynonymous SNV M185T 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 27 54226 chr2 169869901 169869901 A G rs4148777 ABCB11 Synonymous SNV F90F 0.031 0.029 0.041 14 36 11 0.036 12 1 0 0 0 Benign 0.208 54227 chr2 179203724 179203724 C T rs148663743 OSBPL6 Nonsynonymous SNV A245V 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 28.2 54228 chr12 115112444 115112444 C A rs62640916 TBX3 Synonymous SNV S412S 0.02 0.023 0.017 8 23 9 0.021 5 0 0 0 0 Benign 19.32 54229 chr11 78383336 78383336 G A rs111604043 TENM4 Synonymous SNV R1845R 0.013 0.018 0.034 5 15 7 0.013 10 0 0 0 0 0.892 54230 chr2 179412452 179412452 C T rs67665715 TTN Nonsynonymous SNV V22236I 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 7.414 54231 chr2 170059363 170059363 G T rs148473513 LRP2 Synonymous SNV S2704S 0.008 0.008 0 8 9 3 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.028 54232 chr2 179414318 179414318 C T rs747122 TTN Nonsynonymous SNV V21646M 0.055 0.026 0.037 20 65 10 0.051 11 0 0 1 0 Benign/Likely benign 22 54233 chr2 179416556 179416556 A C rs11897366 TTN Synonymous SNV T21292T 0.055 0.026 0.044 20 65 10 0.051 13 0 0 1 0 Benign/Likely benign 0.095 54234 chr2 179416659 179416659 C T rs11887722 TTN Nonsynonymous SNV R21258K 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 21.6 54235 chr11 7716846 7716846 C G rs3925027 OVCH2 Nonsynonymous SNV G413R 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 24.2 54236 chr2 179425509 179425509 C G rs373453778 TTN Nonsynonymous SNV K19385N 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 19.68 54237 chr2 200828526 200828526 T A rs2118548 MAIP1 Nonsynonymous SNV L290I 0.009 0.005 0.02 9 10 2 0.023 6 1 0 0 0 14.52 54238 chr2 170377377 170377377 T C rs373954289 KLHL41 Synonymous SNV D523D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 0.548 54239 chr2 179428061 179428061 C T rs11896637 TTN Nonsynonymous SNV A18535T 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 23.8 54240 chr2 179428284 179428284 C T rs11896779 TTN Synonymous SNV T18460T 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Benign/Likely benign 12.59 54241 chr2 179435337 179435337 T G rs6732060 TTN Synonymous SNV A16109A 0.055 0.026 0.041 20 65 10 0.051 12 0 0 0 0 Benign/Likely benign 6.977 54242 chr2 201515700 201515700 C T rs140878478 AOX1 Stop gain R951X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 47 54243 chr2 179436945 179436945 C T rs376382707 TTN Synonymous SNV E15573E 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.522 54244 chr2 179441917 179441917 T C rs72646881 TTN Nonsynonymous SNV I13984V 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 8.86 54245 chr12 26220591 26220591 C T rs34873759 RASSF8 Synonymous SNV T361T 0.022 0.029 0.01 12 26 11 0.031 3 0 0 0 0 16.46 54246 chr11 7817857 7817857 G A rs1976626 OR5P2 Synonymous SNV A211A 0.017 0.016 0.007 5 20 6 0.013 2 2 0 0 0 10.28 54247 chr2 179443540 179443540 A G rs10497517 TTN Synonymous SNV H13674H 0.055 0.026 0.041 20 65 10 0.051 12 0 0 0 0 Benign/Likely benign 9.629 54248 chr12 26809412 26809412 T G rs2230378 ITPR2 Synonymous SNV T754T 0.061 0.052 0.092 15 72 20 0.038 27 2 1 1 1 5.008 54249 chr12 26812075 26812075 G A rs148110312 ITPR2 Synonymous SNV V619V 0.005 0.013 0.003 7 6 5 0.018 1 0 0 0 0 11.32 54250 chr2 179463292 179463292 A C rs367822879 TTN Nonsynonymous SNV S9953A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 17.34 54251 chr2 202574646 202574646 T G rs769992582 ALS2 Nonsynonymous SNV K1413T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.97 54252 chr12 27066930 27066930 A G rs149253141 INTS13 Synonymous SNV G517G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.992 54253 chr2 179468673 179468673 C T rs368858337 TTN Nonsynonymous SNV M9182I 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Uncertain significance 21 54254 chr2 179472597 179472597 A G rs73036398 TTN Synonymous SNV D8574D 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 1.135 54255 chr2 179549717 179549717 C T rs371725574 TTN 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Uncertain significance 27.6 54256 chr2 171822576 171822576 C T rs3770436 GORASP2 Nonsynonymous SNV S364F 0.017 0.013 0.014 7 20 5 0.018 4 0 0 0 0 19.19 54257 chr2 179560847 179560847 C T rs73038324 TTN Nonsynonymous SNV E9074K 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 23.7 54258 chr2 203157538 203157538 A G rs16839032 NOP58 Synonymous SNV E273E 0.032 0.021 0.01 12 38 8 0.031 3 0 0 0 1 9.918 54259 chr2 44566406 44566406 C T rs770447445 PREPL Synonymous SNV L283L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 15.39 54260 chr2 179576880 179576880 C T rs369108107 TTN Nonsynonymous SNV C7982Y 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Uncertain significance 21.6 54261 chr12 2944049 2944049 G A rs149902882 NRIP2 Nonsynonymous SNV S34L 0.008 0.005 0 6 9 2 0.015 0 0 0 0 0 16.39 54262 chr2 46803354 46803354 C T rs41281473 RHOQ Synonymous SNV Y110Y 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 11.98 54263 chr2 179604732 179604732 C T rs374312091 TTN Nonsynonymous SNV E4047K 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Uncertain significance 21 54264 chr12 2994577 2994577 G A rs150099344 RHNO1 Synonymous SNV P15P 0.02 0.018 0.027 10 23 7 0.026 8 1 0 0 1 12.54 54265 chr12 2994578 2994578 C G rs138375075 RHNO1 Nonsynonymous SNV L16V 0.02 0.018 0.027 10 23 7 0.026 8 1 0 0 1 25.4 54266 chr2 179610477 179610477 A G rs16866488 TTN Synonymous SNV D5550D 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Benign 11.79 54267 chr12 52940168 52940168 C T rs603193 KRT71 Synonymous SNV A409A 0.025 0.021 0.014 3 29 8 0.008 4 0 0 0 0 19.06 54268 chr11 8494772 8494772 G A rs771875782 STK33 Nonsynonymous SNV R93W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 54269 chr2 179395554 179395554 G A rs66961115 TTN Nonsynonymous SNV A26198V 0.018 0.01 0.024 9 21 4 0.023 7 0 0 1 0 Benign/Likely benign 20.8 54270 chr2 179395555 179395555 C A rs67254537 TTN Nonsynonymous SNV A26198S 0.018 0.01 0.024 9 21 4 0.023 7 0 0 1 0 Benign/Likely benign 18 54271 chr2 179395573 179395573 C T rs56324595 TTN Nonsynonymous SNV E26192K 0.027 0.029 0.024 13 32 11 0.033 7 0 0 1 0 Benign/Likely benign 23.6 54272 chr11 8752598 8752598 G C rs61751342 ST5 Nonsynonymous SNV P80R 0.047 0.049 0.071 26 55 19 0.067 21 1 0 1 0 8.17 54273 chr2 179403750 179403750 C T rs4894028 TTN Nonsynonymous SNV R23906H 0.049 0.023 0.02 17 58 9 0.044 6 0 0 0 0 Benign/Likely benign 24 54274 chr2 179408713 179408713 A G rs62621236 TTN Nonsynonymous SNV I22988T 0.051 0.023 0.041 17 60 9 0.044 12 0 0 1 0 Benign/Likely benign 18.61 54275 chr12 53045626 53045626 T C rs2634041 KRT2 Nonsynonymous SNV S101G 0.048 0.039 0.075 12 56 15 0.031 22 2 1 1 0 Benign 0.02 54276 chr11 85610035 85610035 G A rs772485823 CCDC83 Nonsynonymous SNV E217K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 54277 chr2 55277226 55277226 C T rs117465650 RTN4 Nonsynonymous SNV A71T 0.072 0.089 0.068 29 85 34 0.074 20 5 3 1 1 24.6 54278 chr2 179421609 179421609 C T rs9808036 TTN Synonymous SNV E20359E 0.049 0.023 0.02 17 58 9 0.044 6 0 0 0 0 Benign/Likely benign 10.37 54279 chr11 86123464 86123464 T C rs11234644 CCDC81 Synonymous SNV P328P 0.055 0.063 0.034 23 65 24 0.059 10 3 0 1 1 3.718 54280 chr2 179438866 179438866 C T rs10164753 TTN Nonsynonymous SNV R14933H 0.051 0.023 0.027 17 60 9 0.044 8 0 0 0 0 Benign/Likely benign 23.6 54281 chr2 208994274 208994274 C T rs61751949 CRYGC Nonsynonymous SNV R48H 0.012 0.018 0.003 4 14 7 0.01 1 0 0 0 0 Benign 22.4 54282 chr12 53183951 53183951 - GCTGCCACCGCTGAAACCGCT rs570613061 KRT3 S587_G588insSGFSGGS 0.045 0.044 0.044 17 53 17 0.044 13 4 0 0 0 54283 chr19 45127012 45127012 T C IGSF23 Nonsynonymous SNV L45P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 54284 chr2 58387258 58387258 A G rs11539575 FANCL Synonymous SNV C364C 0.014 0.018 0.02 8 17 7 0.021 6 0 0 0 0 Benign 8.629 54285 chr2 179474668 179474668 G A rs16866412 TTN Nonsynonymous SNV A8096V 0.036 0.013 0.014 12 42 5 0.031 4 0 0 0 0 Benign/Likely benign 23 54286 chr19 45322099 45322099 G A rs757677631 BCAM Synonymous SNV P432P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 54287 chr11 9113042 9113042 C G rs777859883 SCUBE2 Nonsynonymous SNV A12P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 54288 chr2 179477717 179477717 A G rs2115558 TTN Synonymous SNV H7512H 0.037 0.016 0.014 13 44 6 0.033 4 0 0 0 0 Benign 5.984 54289 chr2 179479245 179479245 C T rs72677244 TTN Synonymous SNV E7267E 0.035 0.013 0.014 12 41 5 0.031 4 0 0 0 0 Benign 12.13 54290 chr2 179514942 179514959 TTTCCTCTTCAGGAGCAA - rs139512154 TTN I10816_E10821del 0.014 0.008 0.007 8 16 3 0.021 2 0 0 0 0 54291 chr19 45575629 45575629 G A rs747141674 ZNF296 Nonsynonymous SNV R220C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 54292 chr12 123477170 123477170 G A rs754885083 PITPNM2 Synonymous SNV H760H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.432 54293 chr2 65216798 65216798 C A rs73934898 SLC1A4 Synonymous SNV T7T 0.019 0.018 0.01 14 22 7 0.036 3 0 0 0 0 19.4 54294 chr19 45656588 45656588 G A rs776879459 NKPD1 Synonymous SNV H369H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.132 54295 chr2 65248271 65248271 G A rs7563131 SLC1A4 Synonymous SNV S232S 0.141 0.104 0.177 52 166 40 0.133 52 12 1 2 4 12.52 54296 chr19 45815163 45815163 G A rs17357122 CKM Nonsynonymous SNV T166M 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 24.6 54297 chr2 65298647 65298649 AAC - rs147392467 CEP68 T142del 0.108 0.112 0.15 64 127 43 0.164 44 7 2 2 5 54298 chr2 65299298 65299298 C A rs2723088 CEP68 Nonsynonymous SNV N356K 0.108 0.112 0.15 65 127 43 0.167 44 7 2 2 5 19.18 54299 chr2 179582824 179582824 C T rs72648983 TTN Synonymous SNV K7059K 0.02 0.013 0.003 10 23 5 0.026 1 0 0 0 0 Benign/Likely benign 9.15 54300 chr2 65299300 65299300 G C rs2723089 CEP68 Nonsynonymous SNV C357S 0.108 0.112 0.15 65 127 43 0.167 44 7 2 2 5 21.6 54301 chr2 67630476 67630476 T C rs13036061 ETAA1 Nonsynonymous SNV M221T 0.093 0.073 0.088 44 109 28 0.113 26 3 2 2 3 0.001 54302 chr2 179605180 179605180 C T rs746578 TTN Synonymous SNV A3897A 0.19 0.188 0.15 65 223 72 0.167 44 28 7 4 6 Benign 6.993 54303 chr19 45988974 45988974 C T rs201387324 RTN2 Nonsynonymous SNV A204T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 54304 chr12 53345296 53345296 G C rs58472472 KRT18 Nonsynonymous SNV S230T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 17.49 54305 chr2 186625767 186625767 G A rs183605884 FSIP2 Synonymous SNV T377T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 5.376 54306 chr2 186626721 186626721 A T rs115046550 FSIP2 Nonsynonymous SNV N406I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.005 54307 chr2 179621184 179621184 G A rs72955212 TTN Synonymous SNV C3502C 0.017 0.01 0.024 9 20 4 0.023 7 0 0 1 0 Benign 2.189 54308 chr2 179621503 179621503 C T rs72955213 TTN Nonsynonymous SNV S3396N 0.022 0.021 0.024 13 26 8 0.033 7 0 0 1 0 Benign 18.73 54309 chr11 93103330 93103330 C T rs34205920 DEUP1 Nonsynonymous SNV S175F 0.016 0.013 0 4 19 5 0.01 0 0 0 0 1 31 54310 chr2 215645989 215645989 T G rs28997574 BARD1 Synonymous SNV G184G 0.028 0.034 0.037 11 33 13 0.028 11 0 0 0 0 Benign/Likely benign 0.263 54311 chr12 126136998 126136998 G A rs147741654 TMEM132B Synonymous SNV P149P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 2.965 54312 chr2 186656889 186656889 A T rs80073781 FSIP2 Nonsynonymous SNV T1676S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 1.662 54313 chr2 69204629 69204629 T C rs35624281 GKN1 Synonymous SNV I19I 0.047 0.049 0.041 15 55 19 0.038 12 1 2 2 0 8.114 54314 chr2 179642589 179642589 C G rs72647876 TTN Nonsynonymous SNV R1395P 0.019 0.013 0.003 10 22 5 0.026 1 0 0 0 0 Benign/Likely benign 23.9 54315 chr11 94758981 94758981 A G rs61742819 KDM4E Nonsynonymous SNV H87R 0.013 0.013 0.02 10 15 5 0.026 6 0 0 0 0 24.4 54316 chr12 129100757 129100757 C G rs117965239 TMEM132C Nonsynonymous SNV S394R 0.016 0.016 0.034 6 19 6 0.015 10 0 0 0 0 23.1 54317 chr2 186658786 186658786 A T rs76311269 FSIP2 Nonsynonymous SNV D2308V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 21.5 54318 chr2 179659912 179659912 G A rs16866538 TTN Nonsynonymous SNV R328C 0.045 0.052 0.041 21 53 20 0.054 12 1 1 0 0 Benign/Likely benign 17.56 54319 chr11 94760223 94760223 T A rs138237692 KDM4E Nonsynonymous SNV M501K 0.013 0.013 0.017 10 15 5 0.026 5 0 0 0 0 14.79 54320 chr12 12618690 12618690 G A rs3751262 BORCS5 Nonsynonymous SNV D143N 0.043 0.039 0.031 15 51 15 0.038 9 0 1 0 0 23.3 54321 chr2 179666982 179666982 C A rs35683768 TTN Nonsynonymous SNV D60Y 0.02 0.013 0.003 10 23 5 0.026 1 0 0 0 0 Benign/Likely benign 23.4 54322 chr19 46825067 46825067 C T rs61750958 HIF3A Synonymous SNV H324H 0.012 0.005 0.007 2 14 2 0.005 2 0 0 0 0 13.82 54323 chr2 186660741 186660741 T C rs80269489 FSIP2 Nonsynonymous SNV F2960L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.024 54324 chr12 54063056 54063056 C T rs145981161 ATP5MC2 Nonsynonymous SNV A79T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.007 54325 chr19 4714275 4714275 G A rs147966989 DPP9 Nonsynonymous SNV A44V 0.02 0.026 0.037 7 24 10 0.018 11 0 0 0 0 0.1 54326 chr11 95568531 95568531 A G rs116750638 MTMR2 Nonsynonymous SNV S619P 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 54327 chr2 186665191 186665191 G C rs11892184 FSIP2 Nonsynonymous SNV G3720R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 19.13 54328 chr2 186666746 186666746 G A rs144573167 FSIP2 Nonsynonymous SNV R4238Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.061 54329 chr12 130834461 130834461 C A rs920519606 PIWIL1 Synonymous SNV T331T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 13.05 54330 chr19 4769740 4769740 C A rs11878617 MIR7-3HG 0 0 0.316 0 0 0 0 93 0 0 17 0 6.626 54331 chr19 4772463 4772463 C T rs3760951 MIR7-3HG 0 0 0.299 0 0 0 0 88 0 0 27 0 8.228 54332 chr2 186670821 186670821 G A rs140781933 FSIP2 Synonymous SNV E5596E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.417 54333 chr12 12974273 12974273 G A rs759909940 DDX47 Nonsynonymous SNV A105T 0.003 0 0 0 3 0 0 0 0 0 0 0 33 54334 chr2 186671114 186671114 C T rs76069343 FSIP2 Nonsynonymous SNV S5694F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 17.41 54335 chr2 186671231 186671231 A T rs143041186 FSIP2 Nonsynonymous SNV K5733I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.92 54336 chr2 183593313 183593313 T A rs754885947 DNAJC10 Synonymous SNV V143V 0.009 0 0 2 10 0 0.005 0 0 0 0 0 12.83 54337 chr19 47883096 47883096 C T rs78657998 DHX34 Nonsynonymous SNV L946F 0.012 0.005 0.007 5 14 2 0.013 2 0 0 0 0 27.2 54338 chr2 186673485 186673485 C T rs144702237 FSIP2 Synonymous SNV D6484D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 10.74 54339 chr12 50344958 50344958 C T rs60629501 AQP2 Synonymous SNV D115D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 12.75 54340 chr19 48048900 48048900 C A rs146808728 ZNF541 Nonsynonymous SNV G296W 0.015 0.008 0.014 5 18 3 0.013 4 0 0 0 0 24.5 54341 chr2 71780248 71780248 C T rs35721373 DYSF Synonymous SNV Y606Y 0.06 0.057 0.041 16 70 22 0.041 12 2 0 0 1 Benign/Likely benign 12.81 54342 chr2 73613032 73613034 GGA - rs70965731 ALMS1 E28del 0.02 0.013 0 7 23 5 0.018 0 1 0 0 0 54343 chr2 73613034 73613034 - GGA ALMS1 E28_A29insE 0.013 0.013 0 5 15 5 0.013 0 0 0 0 0 54344 chr19 48495306 48495306 C T rs61022739 BSPH1 Synonymous SNV T11T 0.065 0.057 0.048 21 76 22 0.054 14 0 1 0 1 9.607 54345 chr2 219528760 219528760 G A rs11686957 RNF25 Nonsynonymous SNV R434C 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 31 54346 chr12 132393305 132393305 C T rs769816645 ULK1 Synonymous SNV L145L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.79 54347 chr19 48523128 48523128 G A rs35362679 ELSPBP1 Nonsynonymous SNV D170N 0.038 0.026 0.048 22 45 10 0.056 14 1 0 1 2 26.2 54348 chr12 132403083 132403083 G T rs775533457 ULK1 Nonsynonymous SNV V790L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.583 54349 chr2 74489318 74489318 G A rs55651232 SLC4A5 Nonsynonymous SNV H253Y 0.045 0.052 0.048 20 53 20 0.051 14 1 1 0 0 6.874 54350 chr12 133102403 133102403 C T rs61529021 FBRSL1 Synonymous SNV L191L 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 9.814 54351 chr12 133146701 133146701 C T rs3751315 FBRSL1 Nonsynonymous SNV P294L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 3.474 54352 chr12 132502855 132502855 T C rs747670517 EP400 Nonsynonymous SNV M1404T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 22.2 54353 chr12 101295602 101295602 C G rs34182255 ANO4 Synonymous SNV T13T 0.058 0.068 0.071 23 68 26 0.059 21 2 3 1 1 7.716 54354 chr12 133146732 133146732 G A rs3751314 FBRSL1 Synonymous SNV P304P 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 5.805 54355 chr12 50749554 50749554 G T rs74090114 FAM186A Nonsynonymous SNV P354H 0.02 0.016 0.02 5 24 6 0.013 6 0 0 0 0 22.1 54356 chr12 133149168 133149168 C T rs117416619 FBRSL1 Nonsynonymous SNV P515L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 29.8 54357 chr2 190532183 190532183 G A rs34986680 ASNSD1 Nonsynonymous SNV R442K 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 5.392 54358 chr2 75893101 75893101 G C rs141965995 GCFC2 Nonsynonymous SNV Q559E 0.006 0.003 0 0 7 1 0 0 0 0 0 0 21.4 54359 chr12 51457720 51457720 G C rs140038570 CSRNP2 Nonsynonymous SNV L481V 0.004 0 0 0 5 0 0 0 0 0 0 0 1.984 54360 chr2 196825256 196825256 G C rs115124743 DNAH7 Synonymous SNV V873V 0.055 0.083 0.061 21 65 32 0.054 18 0 0 1 0 Benign 0.297 54361 chr12 133698377 133698377 A G rs11147241 ZNF891 Nonsynonymous SNV M43T 0.017 0.021 0.01 9 20 8 0.023 3 0 0 0 0 16.57 54362 chr12 102869434 102869434 C T rs147960415 IGF1 Synonymous SNV R69R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.83 54363 chr2 85820146 85820146 G A rs201201551 VAMP5 Nonsynonymous SNV V73M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.826 54364 chr12 103352171 103352171 - GCAGCAGCAGCA rs3832799 ASCL1 Q62_A63insQQQQ 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 54365 chr2 85981877 85981877 G A rs201773606 ATOH8 Nonsynonymous SNV E189K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 22.8 54366 chr2 85981878 85981878 A G rs527369972 ATOH8 Nonsynonymous SNV E189G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.35 54367 chr19 49318380 49318380 G A rs35299026 HSD17B14 Nonsynonymous SNV R130W 0.052 0.068 0.071 20 61 26 0.051 21 1 1 0 0 34 54368 chr2 86352925 86352925 A G rs139474497 PTCD3 Synonymous SNV V291V 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 0.294 54369 chr19 49360679 49360679 C G PLEKHA4 Nonsynonymous SNV L349F 0 0 0.003 0 0 0 0 1 0 0 0 0 22 54370 chr19 49363672 49363672 G C rs33993078 PLEKHA4 Synonymous SNV T137T 0.04 0.034 0.058 14 47 13 0.036 17 0 0 0 0 9.317 54371 chr12 15262359 15262359 C T rs11056357 RERG Synonymous SNV V76V 0.021 0.016 0.014 9 25 6 0.023 4 0 0 0 0 Benign 13.74 54372 chr12 106641490 106641492 GGC - rs368519473 CKAP4 P47del 0.077 0.078 0.068 22 90 30 0.056 20 41 14 10 10 54373 chr2 86707448 86707448 C T rs35269985 KDM3A Synonymous SNV A825A 0.014 0.018 0.007 2 16 7 0.005 2 0 0 0 0 20.5 54374 chr12 57909119 57909119 A C rs140573721 MARS1 Synonymous SNV T797T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.666 54375 chr19 49619561 49619561 T C rs28446007 LIN7B Synonymous SNV H90H 0.006 0.013 0.014 5 7 5 0.013 4 0 0 0 0 3.511 54376 chr12 10782116 10782116 G A rs4763567 STYK1 Synonymous SNV L203L 0.049 0.018 0.01 27 58 7 0.069 3 1 0 0 0 10.76 54377 chr2 202900983 202900983 T C rs766517331 FZD7 Nonsynonymous SNV M538T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.8 54378 chr2 88482287 88482288 TC - rs756080294 THNSL2 I133Tfs*13 0.005 0.003 0 0 6 1 0 0 0 0 0 0 54379 chr12 108169412 108169412 C T rs201325749 ASCL4 Synonymous SNV A140A 0.012 0.01 0.007 2 14 4 0.005 2 0 0 0 0 15.44 54380 chr12 10675271 10675271 A G rs771230307 EIF2S3B Nonsynonymous SNV R460G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.068 54381 chr2 196866433 196866433 A C rs144390858 DNAH7 Nonsynonymous SNV M380R 0.012 0.01 0.014 7 14 4 0.018 4 0 0 0 0 Benign/Likely benign 23.7 54382 chr2 204073435 204073435 G A rs182855092 NBEAL1 Nonsynonymous SNV G2499S 0.013 0.01 0.003 1 15 4 0.003 1 0 0 0 0 Benign 17.26 54383 chr12 20852546 20852546 C T rs34243130 SLCO1C1 Synonymous SNV F12F 0.02 0.008 0.024 11 23 3 0.028 7 0 0 0 0 14.67 54384 chr2 198669871 198669871 G C rs770658 PLCL1 Synonymous SNV A16A 0.155 0.102 0.085 79 182 39 0.203 25 80 18 12 36 9.505 54385 chr2 204591513 204591513 G A rs56087636 CD28 Synonymous SNV G70G 0.015 0.008 0.01 1 18 3 0.003 3 0 0 0 0 0.312 54386 chr2 200684250 200684250 A - rs769243363 FTCDNL1 *148delinsKLEVPFMSHTLLMQEEL* 0.002 0 0.041 3 2 0 0.008 12 0 0 0 0 54387 chr2 96874307 96874307 C G rs7559215 STARD7-AS1 0.046 0.029 0.075 16 54 11 0.041 22 4 0 0 3 16.92 54388 chr12 1940514 1940514 G A rs41276696 LRTM2 Nonsynonymous SNV D161N 0.04 0.021 0.044 19 47 8 0.049 13 2 0 1 1 25.5 54389 chr12 108985976 108985976 G A rs112073168 TMEM119 Nonsynonymous SNV L62F 0.046 0.036 0.054 21 54 14 0.054 16 0 0 1 0 2.359 54390 chr2 223389692 223389692 C T rs111981491 SGPP2 Synonymous SNV A68A 0.026 0.013 0.007 7 30 5 0.018 2 1 0 0 0 15.99 54391 chr2 97317629 97317629 G A rs551147801 FER1L5 Nonsynonymous SNV V169I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.23 54392 chr12 21713320 21713320 C G rs762667150 GYS2 Nonsynonymous SNV W390S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 25.4 54393 chr2 202065178 202065178 - TT rs756462271 CASP10 Frameshift insertion L235Ffs*2 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 54394 chr2 202149696 202149696 G A rs1045487 CASP8 Synonymous SNV K305K 0.053 0.065 0.071 29 62 25 0.074 21 2 0 0 0 Benign 10.92 54395 chr2 98373842 98373842 A T rs149630938 TMEM131 Nonsynonymous SNV V1791D 0.034 0.031 0.02 15 40 12 0.038 6 1 1 0 0 24.1 54396 chr12 250239 250239 A G rs2291928 LOC574538 0.124 0.086 0.221 43 146 33 0.11 65 28 5 5 8 4.007 54397 chr19 50365718 50365718 A G rs149731642 PNKP Synonymous SNV F313F 0.003 0.01 0.003 3 3 4 0.008 1 0 0 0 0 Benign/Likely benign 14.4 54398 chr2 207460865 207460865 C G rs113518350 ADAM23 Nonsynonymous SNV P780A 0.009 0.013 0.007 6 10 5 0.015 2 0 0 0 0 Benign 13.47 54399 chr2 99169414 99169414 C T rs137960574 INPP4A Synonymous SNV L443L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.69 54400 chr19 50394693 50394693 G A rs61730216 IL4I1 Nonsynonymous SNV A202V 0.003 0.01 0.003 3 3 4 0.008 1 0 0 0 0 12.42 54401 chr2 202626386 202626386 C T rs61745503 ALS2 Nonsynonymous SNV V111I 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.02 54402 chr2 207619779 207619779 A G rs59358632 MDH1B Synonymous SNV G190G 0.076 0.047 0.082 25 89 18 0.064 24 3 1 1 0 0.126 54403 chr12 109883344 109883346 AAG - rs372231088 MYO1H E992del 0.006 0.013 0 5 7 5 0.013 0 0 0 0 0 54404 chr2 203052947 203052947 G A rs35468542 KIAA2012 Nonsynonymous SNV E817K 0.076 0.057 0.085 31 89 22 0.079 25 5 0 1 1 22.1 54405 chr2 207631461 207631461 G A rs3762568 FASTKD2 Nonsynonymous SNV S15N 0.075 0.047 0.082 24 88 18 0.062 24 2 1 1 0 Benign 11.77 54406 chr19 50862768 50862768 C T rs11670727 NAPSA Nonsynonymous SNV A310T 0.05 0.039 0.034 17 59 15 0.044 10 2 0 0 0 4.363 54407 chr12 53201516 53201516 G A rs192699667 KRT4 Nonsynonymous SNV R420C 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 Benign 33 54408 chr19 50905586 50905586 G A rs149096523 POLD1 Synonymous SNV T238T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.35 54409 chr2 228163453 228163453 C A rs57611801 COL4A3 Nonsynonymous SNV D1269E 0.026 0.018 0.037 8 30 7 0.021 11 0 0 0 0 Benign/Likely benign 12.04 54410 chr19 50940778 50940778 C T rs61731791 MYBPC2 Nonsynonymous SNV T171M 0.054 0.044 0.024 16 63 17 0.041 7 1 0 1 0 8.365 54411 chr2 228398422 228398422 A G rs13015491 AGFG1 Synonymous SNV A284A 0.048 0.044 0.044 16 56 17 0.041 13 1 1 1 1 7.478 54412 chr19 50967686 50967686 G A rs34339443 MYBPC2 Synonymous SNV T1104T 0.045 0.034 0.017 13 53 13 0.033 5 1 0 0 0 15.79 54413 chr2 204735525 204735525 G A rs144988077 CTLA4 Nonsynonymous SNV G109E 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 Uncertain significance 13.64 54414 chr12 53227788 53227788 C T rs139252457 KRT79 Nonsynonymous SNV G86E 0.019 0.021 0.014 18 22 8 0.046 4 0 0 0 0 25.2 54415 chr12 111169656 111169656 T C PPP1CC Nonsynonymous SNV R36G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 54416 chr2 101591844 101591844 G T rs17025128 LOC101927142 0.034 0.034 0.017 12 40 13 0.031 5 2 0 0 0 0.016 54417 chr19 51391121 51391121 A C rs66651444 KLKP1 0 0 0.085 0 0 0 0 25 0 0 1 0 0.444 54418 chr12 2760755 2760755 C T rs202216172 CACNA1C Nonsynonymous SNV H1321Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 9.253 54419 chr19 51412013 51412013 G T rs45623731 KLK4 Synonymous SNV A4A 0 0 0.014 1 0 0 0.003 4 0 0 0 0 Benign 1.19 54420 chr2 101879023 101879023 G A rs1007752 CNOT11 Synonymous SNV T234T 0.02 0.026 0.024 6 23 10 0.015 7 0 0 0 0 13.24 54421 chr12 31814925 31814925 A G rs780503955 ETFBKMT Nonsynonymous SNV H13R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.001 54422 chr12 111892911 111892911 C A rs939701714 ATXN2 Nonsynonymous SNV A988S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 54423 chr12 67699536 67699536 G A rs17781675 CAND1 Synonymous SNV E696E 0.078 0.086 0.041 33 92 33 0.085 12 3 2 0 1 1.48 54424 chr19 51584858 51584858 C T rs2569490 KLK14 Nonsynonymous SNV R48H 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 9.559 54425 chr12 112688792 112688792 C T HECTD4 Synonymous SNV R1243R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 54426 chr19 51628622 51628622 A C rs16988910 SIGLEC9 Nonsynonymous SNV K131Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 0.001 54427 chr19 51630485 51630485 C A rs273688 SIGLEC9 Nonsynonymous SNV A316D 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 1.161 54428 chr19 51631236 51631236 T C rs273690 SIGLEC9 Nonsynonymous SNV V349A 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 0.002 54429 chr12 6936296 6936296 G C rs141374776 GPR162 Nonsynonymous SNV G281A 0.014 0.013 0.003 4 16 5 0.01 1 0 0 0 0 0.001 54430 chr12 32893426 32893426 C T rs148634653 DNM1L Synonymous SNV L453L 0.041 0.063 0.031 14 48 24 0.036 9 0 0 0 0 Benign/Likely benign 14.53 54431 chr2 233390199 233390199 C G rs61744404 PRSS56 Nonsynonymous SNV P599A 0.069 0.047 0.027 36 81 18 0.092 8 4 0 1 3 Benign 4.696 54432 chr12 54350333 54350333 G A rs76569642 HOXC12 Nonsynonymous SNV A278T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 54433 chr19 518957 518957 C A rs117112129 TPGS1 Nonsynonymous SNV P136Q 0.021 0.026 0.041 9 25 10 0.023 12 0 1 0 0 23.2 54434 chr2 210560189 210560189 A G rs17745550 MAP2 Nonsynonymous SNV M1095V 0.043 0.057 0.031 17 51 22 0.044 9 1 1 0 0 0.001 54435 chr12 54394337 54394337 C T rs11829948 HOXC9 Nonsynonymous SNV A122V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 20.2 54436 chr2 210595034 210595034 G A MAP2 Synonymous SNV S443S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.923 54437 chr2 210679999 210679999 A G UNC80 Nonsynonymous SNV N407D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.9 54438 chr12 3765493 3765493 G T rs71534241 CRACR2A Nonsynonymous SNV T281N 0.016 0.013 0.01 5 19 5 0.013 3 0 0 0 0 11.4 54439 chr2 210837858 210837858 G A rs1027593125 UNC80 Synonymous SNV P2751P 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 10.84 54440 chr12 54798011 54798011 C T rs112896207 ITGA5 Nonsynonymous SNV A495T 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 Benign 22.3 54441 chr12 54798541 54798541 A T rs777310978 ITGA5 Nonsynonymous SNV F455I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 54442 chr12 54967000 54967000 G A rs115481291 PDE1B Synonymous SNV T64T 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 15.56 54443 chr2 213921685 213921685 T C rs16849611 IKZF2 Nonsynonymous SNV N93S 0.02 0.026 0.01 5 23 10 0.013 3 0 0 0 0 Benign 0.007 54444 chr2 111850515 111850515 C T rs17041850 ACOXL Nonsynonymous SNV P505L 0.033 0.034 0.02 15 39 13 0.038 6 1 1 0 0 23.6 54445 chr12 113874568 113874568 C - rs573188148 SDSL L229Wfs*30 0.014 0.023 0.01 9 17 9 0.023 3 1 0 0 0 54446 chr12 3806157 3806157 G A rs71579247 CRACR2A Synonymous SNV A3A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.799 54447 chr12 114384229 114384229 C T rs759482164 RBM19 Nonsynonymous SNV D487N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.1 54448 chr12 115117337 115117337 G A rs34627348 TBX3 Synonymous SNV I259I 0.014 0.013 0.01 4 17 5 0.01 3 0 0 0 1 Benign 12.95 54449 chr12 117187919 117187919 C T rs116754010 RNFT2 Synonymous SNV G119G 0.012 0.008 0.014 7 14 3 0.018 4 1 0 0 0 12.63 54450 chr12 75698584 75698584 T C rs144151792 CAPS2 Synonymous SNV S158S 0.009 0.005 0.01 1 10 2 0.003 3 0 0 0 0 1.64 54451 chr12 75785047 75785047 G A rs146467128 GLIPR1L2 Nonsynonymous SNV V51I 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 20.2 54452 chr19 52130488 52130488 G A rs17740650 SIGLEC5 Synonymous SNV L432L 0.06 0.065 0.044 21 71 25 0.054 13 1 3 0 0 3.216 54453 chr19 52131119 52131119 A G rs2278831 SIGLEC5 Nonsynonymous SNV F322S 0.045 0.06 0.034 21 53 23 0.054 10 0 3 0 0 1.567 54454 chr19 52196453 52196453 T C rs12976445 SPACA6P-AS 0 0 0.337 0 0 0 0 99 0 0 18 0 3.226 54455 chr12 118465820 118465820 T C rs5745873 RFC5 Synonymous SNV L283L 0.06 0.036 0.075 15 70 14 0.038 22 3 0 0 0 6.336 54456 chr2 219503113 219503113 C T rs1803383 ZNF142 Synonymous SNV E1671E 0.051 0.034 0.02 8 60 13 0.021 6 2 0 0 0 12.56 54457 chr2 219507302 219507302 C T rs3821033 ZNF142 Nonsynonymous SNV A1313T 0.051 0.034 0.027 8 60 13 0.021 8 2 0 0 0 8.6 54458 chr2 219508263 219508263 G T rs3770212 ZNF142 Synonymous SNV P992P 0.051 0.034 0.027 8 60 13 0.021 8 2 0 0 0 2.35 54459 chr12 119909961 119909961 C T rs17482508 CCDC60 Synonymous SNV T111T 0.023 0.031 0.024 11 27 12 0.028 7 0 0 0 0 7.266 54460 chr19 52569084 52569084 T C rs180894663 ZNF841 Nonsynonymous SNV N568S 0.009 0.013 0.01 0 10 5 0 3 0 0 0 0 0.156 54461 chr2 219520895 219520895 T C rs3731872 ZNF142 Synonymous SNV P86P 0.051 0.034 0.017 9 60 13 0.023 5 2 0 0 0 6.807 54462 chr2 219527712 219527712 C T rs33946522 BCS1L Synonymous SNV N165N 0.051 0.034 0.027 8 60 13 0.021 8 2 0 0 0 Benign 9.689 54463 chr12 120530858 120530858 C T rs201376334 BICDL1 Nonsynonymous SNV R539W 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 25.1 54464 chr2 219529247 219529247 A C rs2303562 RNF25 Synonymous SNV P271P 0.051 0.034 0.027 8 60 13 0.021 8 2 0 0 0 0.053 54465 chr2 219529881 219529881 G A rs2303564 RNF25 Synonymous SNV P221P 0.05 0.031 0.027 8 59 12 0.021 8 2 0 0 0 3.421 54466 chr2 218713174 218713174 G A rs143912099 TNS1 Nonsynonymous SNV A564V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.78 54467 chr12 56359787 56359787 C T rs372307182 PMEL Synonymous SNV L3L 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 4.1 54468 chr2 238486767 238486767 A G rs11542159 RAB17 Synonymous SNV G63G 0.037 0.047 0.031 12 43 18 0.031 9 2 0 1 0 0.016 54469 chr12 120882691 120882691 G A rs144518718 TRIAP1 Nonsynonymous SNV P72L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.3 54470 chr12 120884291 120884291 C T rs17431446 GATC Nonsynonymous SNV S3L 0.092 0.104 0.085 43 108 40 0.11 25 3 1 0 0 23.2 54471 chr2 219129896 219129896 G A rs139083943 AAMP Nonsynonymous SNV S359L 0.004 0 0 4 5 0 0.01 0 0 0 0 0 26.5 54472 chr12 120907332 120907332 C T rs11548264 SRSF9 Synonymous SNV E27E 0.092 0.104 0.085 43 108 40 0.11 25 3 1 0 0 18.04 54473 chr19 52937283 52937283 G C rs777624514 ZNF534 Nonsynonymous SNV A31P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.41 54474 chr12 46758462 46758462 G A rs61748367 SLC38A2 Nonsynonymous SNV L124F 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 5.501 54475 chr12 5685147 5685147 G A rs144224656 ANO2 Nonsynonymous SNV P825L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 33 54476 chr2 219754822 219754822 G A rs77583146 WNT10A Nonsynonymous SNV G165R 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24 54477 chr12 4736955 4736955 T A rs138422998 AKAP3 Synonymous SNV T371T 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 0.008 54478 chr2 219755011 219755011 T A rs121908120 WNT10A Nonsynonymous SNV F228I 0.022 0.029 0.024 8 26 11 0.021 7 0 0 0 0 Conflicting interpretations of pathogenicity 32 54479 chr12 81610702 81610702 G A rs61742651 ACSS3 Synonymous SNV A458A 0.028 0.047 0.037 11 33 18 0.028 11 0 1 0 0 3.034 54480 chr12 48137441 48137441 C T rs202109036 RAPGEF3 Nonsynonymous SNV R524Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.8 54481 chr2 239049602 239049602 C T rs147827992 KLHL30 Synonymous SNV S69S 0.026 0.029 0.017 13 31 11 0.033 5 0 1 0 0 4.133 54482 chr2 122007190 122007190 C T rs147774691 TFCP2L1 Nonsynonymous SNV R83Q 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 33 54483 chr19 53100323 53100323 A G rs7250630 ZNF137P 0 0 0.259 0 0 0 0 76 0 0 12 0 3.795 54484 chr19 53100377 53100377 G A rs7250969 ZNF137P 0 0 0.231 0 0 0 0 68 0 0 12 0 3.679 54485 chr19 53100585 53100585 G T rs1802617 ZNF137P 0 0 0.459 0 0 0 0 135 0 0 35 0 3.644 54486 chr12 48143315 48143315 A G rs145878042 RAPGEF3 Nonsynonymous SNV L258P 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign 28.9 54487 chr12 57132236 57132236 C T rs143246089 PRIM1 Nonsynonymous SNV V376I 0.007 0.008 0.007 6 8 3 0.015 2 0 0 0 0 16.15 54488 chr19 532066 532066 C T rs6507 CDC34 Synonymous SNV I45I 0.083 0.089 0.075 32 98 34 0.082 22 6 3 0 3 17.1 54489 chr12 57146069 57146069 T G rs2277339 PRIM1 Nonsynonymous SNV D5A 0.093 0.104 0.112 61 109 40 0.156 33 2 2 2 11 29 54490 chr12 121678327 121678327 - TT rs778701848 CAMKK2 Frameshift insertion G539Kfs*6 0.021 0.023 0.003 14 25 9 0.036 1 0 0 0 0 54491 chr12 57175843 57175843 G A rs376817921 HSD17B6 Nonsynonymous SNV M133I 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 0.048 54492 chr2 128914866 128914866 G T rs199996529 UGGT1 Synonymous SNV G767G 0.009 0.005 0 0 11 2 0 0 0 0 0 0 9.82 54493 chr12 122199636 122199636 C T rs61735145 TMEM120B Synonymous SNV N181N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.34 54494 chr2 220250237 220250237 G A rs149936277 DNPEP Nonsynonymous SNV S236L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 24.8 54495 chr12 57871437 57871437 C T rs34160414 ARHGAP9 Synonymous SNV E3E 0.039 0.042 0.041 14 46 16 0.036 12 1 0 1 0 12.62 54496 chr12 9074268 9074268 C T rs1805780 PHC1 Synonymous SNV T126T 0.009 0.016 0.027 0 11 6 0 8 0 0 0 0 11.39 54497 chr12 9083164 9083164 C T rs200063610 PHC1 Nonsynonymous SNV A249V 0.031 0.029 0.031 13 36 11 0.033 9 0 0 1 0 24.2 54498 chr2 220331957 220331957 C T rs372494202 SPEG Synonymous SNV A981A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 17.48 54499 chr2 220349447 220349447 C T rs376076241 SPEG Nonsynonymous SNV P2421L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.1 54500 chr12 58022024 58022024 G A rs11616065 B4GALNT1 Synonymous SNV L287L 0.022 0.029 0.02 17 26 11 0.044 6 0 0 0 0 Benign 11.3 54501 chr19 53786079 53786079 G A rs201240639 FAM90A27P 0 0 0.156 0 0 0 0 46 0 0 1 0 2.076 54502 chr2 135206340 135206340 C A rs2230908 MGAT5 Synonymous SNV A716A 0.074 0.081 0.099 25 87 31 0.064 29 5 0 2 1 19.02 54503 chr19 53786081 53786081 G A rs199718400 FAM90A27P 0 0 0.16 0 0 0 0 47 0 0 1 0 1.84 54504 chr12 92380427 92380427 G A rs61744626 LINC01619 0.024 0.029 0.037 12 28 11 0.031 11 0 0 1 0 6.956 54505 chr19 53786082 53786082 A G rs200669069 FAM90A27P 0 0 0.156 0 0 0 0 46 0 0 1 0 0.465 54506 chr19 53786091 53786091 C A rs112045296 FAM90A27P 0 0 0.163 0 0 0 0 48 0 0 1 0 6.457 54507 chr2 220361819 220361819 G C rs148415235 SPEGNB Synonymous SNV S139S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 16.02 54508 chr12 59313248 59313248 G A rs12426969 LRIG3 Synonymous SNV L6L 0.06 0.06 0.061 40 71 23 0.103 18 2 1 0 1 5.392 54509 chr12 59313936 59313936 T G rs61754220 LRIG3 Synonymous SNV S27S 0.051 0.052 0.061 38 60 20 0.097 18 2 1 0 1 1.039 54510 chr19 53793596 53793596 A G rs144639389 BIRC8 0 0.005 0.007 0 0 2 0 2 0 0 0 0 23.6 54511 chr2 135920394 135920394 C T rs61748693 RAB3GAP1 Synonymous SNV F821F 0.049 0.034 0.031 13 58 13 0.033 9 1 0 0 0 Benign 13.33 54512 chr19 54191743 54191743 A G rs57111412 MIR1283-1 0 0 0.116 0 0 0 0 34 0 0 2 0 2.579 54513 chr19 54313707 54313707 G C rs34971363 NLRP12 Nonsynonymous SNV F402L 0.091 0.07 0.105 28 107 27 0.072 31 9 0 0 0 Benign 23.1 54514 chr12 50561023 50561023 G A rs143484198 CERS5 Nonsynonymous SNV R20C 0.012 0.008 0 6 14 3 0.015 0 0 1 0 0 33 54515 chr12 124496864 124496864 T G rs80197353 ZNF664 Nonsynonymous SNV V58G 0.049 0.055 0.092 23 58 21 0.059 27 0 0 0 0 22.8 54516 chr19 54403703 54403703 C G rs35079513 PRKCG Synonymous SNV L468L 0.023 0.026 0.024 9 27 10 0.023 7 1 0 0 0 Benign 13.21 54517 chr12 9334571 9334571 C T rs3741849 PZP Synonymous SNV K563K 0.108 0.091 0.126 34 127 35 0.087 37 11 2 1 2 12.83 54518 chr12 124497113 124497113 A G rs150362388 ZNF664 Nonsynonymous SNV K141R 0.014 0.026 0.031 4 16 10 0.01 9 0 0 0 0 24.3 54519 chr12 64502747 64502747 C T rs114817817 SRGAP1 Nonsynonymous SNV R594C 0.009 0.008 0.017 4 10 3 0.01 5 0 0 0 0 risk factor 35 54520 chr12 94658920 94658920 C T rs2230759 PLXNC1 Synonymous SNV P1172P 0.014 0.023 0.01 5 16 9 0.013 3 0 0 0 0 19.59 54521 chr2 138434130 138434130 A G rs61750799 THSD7B Synonymous SNV Q1592Q 0.043 0.052 0.058 18 50 20 0.046 17 1 0 0 1 1.053 54522 chr19 54579492 54579492 T C rs117001579 TARM1 Synonymous SNV R12R 0.049 0.039 0.061 12 57 15 0.031 18 4 0 2 0 0.745 54523 chr19 54598604 54598604 T G rs8106130 OSCAR Nonsynonymous SNV Y214S 0.034 0.018 0.082 7 40 7 0.018 24 4 1 2 0 11.62 54524 chr2 220422126 220422126 G A rs375716830 OBSL1 Synonymous SNV D1335D 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign/Likely benign 11.47 54525 chr2 141457945 141457945 T C LRP1B Nonsynonymous SNV I2225V 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 14.79 54526 chr12 49434742 49434742 G A rs199802471 KMT2D Nonsynonymous SNV P2271S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.296 54527 chr12 6494240 6494240 A G rs41480749 LTBR Synonymous SNV T63T 0.015 0.01 0.007 3 18 4 0.008 2 0 0 0 0 Benign 0.048 54528 chr2 141458182 141458182 C A rs145744070 LRP1B Nonsynonymous SNV V2146F 0.024 0.026 0.01 9 28 10 0.023 3 1 0 0 0 Benign 23.1 54529 chr12 49689991 49689991 C T rs751432262 PRPH Synonymous SNV D192D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.83 54530 chr12 49997088 49997088 C T rs139836554 FAM186B Nonsynonymous SNV E129K 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 26.4 54531 chr2 223536541 223536541 G A rs35959734 MOGAT1 Nonsynonymous SNV A13T 0.039 0.029 0.037 14 46 11 0.036 11 2 0 0 0 12.68 54532 chr19 54677886 54677886 C T rs775218388 MBOAT7 Nonsynonymous SNV R351Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23 54533 chr19 54695720 54695720 C T rs202245444 TSEN34 Nonsynonymous SNV S131L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Uncertain significance 8.295 54534 chr12 97038030 97038030 A G rs139585468 CFAP54 Nonsynonymous SNV Y1464C 0.011 0.01 0.007 8 13 4 0.021 2 0 0 0 0 6.899 54535 chr12 6601619 6601619 G A rs141891222 MRPL51 Nonsynonymous SNV H69Y 0.008 0.003 0 0 9 1 0 0 0 0 0 0 31 54536 chr2 152476130 152476130 C T rs6717213 NEB Synonymous SNV K3326K 0.038 0.021 0.02 13 45 8 0.033 6 1 0 0 0 Benign 16.9 54537 chr2 225672460 225672460 G A rs12328236 DOCK10 Synonymous SNV Y1203Y 0.147 0.148 0.146 55 172 57 0.141 43 14 2 2 0 1.817 54538 chr12 6619402 6619402 T C rs714775 SCARNA10 0.095 0.068 0.095 51 111 26 0.131 28 3 1 1 3 13.28 54539 chr2 225709926 225709926 A G rs7577271 DOCK10 Synonymous SNV S819S 0.146 0.156 0.146 54 171 60 0.138 43 12 4 2 0 3.362 54540 chr2 225727431 225727431 T C rs7589474 DOCK10 Synonymous SNV Q539Q 0.09 0.107 0.116 34 106 41 0.087 34 5 1 1 0 0.826 54541 chr2 225740784 225740784 C T rs180691490 DOCK10 Nonsynonymous SNV R295K 0.005 0 0.024 2 6 0 0.005 7 0 0 0 0 8.255 54542 chr12 51753018 51753018 A C GALNT6 Nonsynonymous SNV S422R 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 6.67 54543 chr12 129028586 129028586 C T rs73426420 TMEM132C Synonymous SNV S353S 0.098 0.083 0.129 41 115 32 0.105 38 4 0 5 1 16.19 54544 chr12 6639981 6639981 C G rs2240871 NCAPD2 Nonsynonymous SNV T1321S 0.096 0.073 0.092 50 113 28 0.128 27 4 1 1 3 0.056 54545 chr12 129189833 129189833 A G rs1038073940 TMEM132C Nonsynonymous SNV T774A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.874 54546 chr2 227661396 227661398 TGC - rs138975702 IRS1 S686del 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 54547 chr12 665814 665814 G A rs140633399 B4GALNT3 Nonsynonymous SNV R721H 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 22.8 54548 chr12 994324 994324 A G rs142543401 WNK1 Nonsynonymous SNV T1205A 0.002 0.008 0.007 5 2 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.12 54549 chr12 52435691 52435691 G A rs7316491 NR4A1 Synonymous SNV K5K 0.156 0.18 0.085 72 183 69 0.185 25 8 5 1 5 9.602 54550 chr12 129299435 129299435 C T rs35580712 SLC15A4 Nonsynonymous SNV G243S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.6 54551 chr12 130184612 130184612 C T rs140064887 TMEM132D Synonymous SNV G237G 0.019 0.013 0.014 13 22 5 0.033 4 0 0 0 0 11.41 54552 chr12 994953 994953 T C rs149852592 WNK1 Synonymous SNV S1414S 0.002 0.008 0.007 5 2 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.138 54553 chr12 129399528 129399528 C T rs79317403 GLT1D1 Nonsynonymous SNV R113C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 5.536 54554 chr12 6690653 6690653 G A rs77843719 SCARNA11 0.025 0.016 0.024 8 29 6 0.021 7 1 0 0 1 16.37 54555 chr3 9032444 9032444 C G rs371675684 SRGAP3 Nonsynonymous SNV G856R 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 24.4 54556 chr13 100199291 100199291 G A rs34326229 TM9SF2 Synonymous SNV T401T 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 16.03 54557 chr12 13061453 13061453 C T rs12366842 GPRC5A Synonymous SNV D90D 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 4.253 54558 chr13 100543576 100543576 C T rs145710863 CLYBL Nonsynonymous SNV A311V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 54559 chr12 13061727 13061727 A G rs12368599 GPRC5A Nonsynonymous SNV T182A 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 23.1 54560 chr12 131616321 131616321 G A rs143902981 ADGRD1 Nonsynonymous SNV A743T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 19.98 54561 chr13 103343256 103343256 G A rs140891650 METTL21C Synonymous SNV Y63Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.625 54562 chr2 228194500 228194500 - GTGAGCAGGGCAGCATTTCCTTCTCCCACTGCTGCTGAGATGGCAGAAATTAGTCGAAT MFF 0.011 0.01 0 4 13 4 0.01 0 0 0 0 0 54563 chr2 228882970 228882970 T C rs3828161 SPHKAP Nonsynonymous SNV Q867R 0.101 0.122 0.129 43 118 47 0.11 38 6 5 3 4 0.001 54564 chr3 9957033 9957033 C A rs200521188 IL17RE Nonsynonymous SNV L400M 0.009 0.013 0 3 10 5 0.008 0 0 0 0 0 24.9 54565 chr2 230450646 230450646 T A rs72987941 DNER Nonsynonymous SNV T259S 0.021 0.036 0.027 11 25 14 0.028 8 0 0 0 0 19.09 54566 chr2 230841011 230841011 C T rs61753284 FBXO36 Nonsynonymous SNV P51S 0.019 0.008 0.01 4 22 3 0.01 3 0 0 0 0 29.2 54567 chr12 70087524 70087524 C T rs149119659 BEST3 Synonymous SNV L31L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.805 54568 chr12 132399004 132399004 C G rs74749868 ULK1 Nonsynonymous SNV T452S 0.008 0.005 0.014 5 9 2 0.013 4 0 0 0 0 Benign 0.081 54569 chr12 132547093 132547093 - CAGCAGCAG EP400 Q2748_T2749insQQQ 0.01 0.008 0.003 5 12 3 0.013 1 0 0 0 0 54570 chr12 132547161 132547161 C T rs143981004 EP400 Nonsynonymous SNV T2750M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 54571 chr12 132549362 132549362 G A rs56003133 EP400 Synonymous SNV T2828T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.57 54572 chr12 71960684 71960684 C G LGR5 Synonymous SNV L330L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.415 54573 chr12 133250232 133250232 C T rs140566004 POLE Nonsynonymous SNV A430T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 54574 chr12 72026160 72026160 T C rs34775036 ZFC3H1 Synonymous SNV K984K 0.012 0 0.01 3 14 0 0.008 3 0 0 0 0 0.078 54575 chr2 165404201 165404201 G C rs75035263 GRB14 Synonymous SNV T63T 0.017 0.013 0 7 20 5 0.018 0 0 0 0 0 9.146 54576 chr12 133304640 133304640 A G rs200148522 ANKLE2 Nonsynonymous SNV Y865H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.1 54577 chr12 133354262 133354262 C T rs143232411 GOLGA3 Nonsynonymous SNV D1238N 0.021 0.029 0.02 5 25 11 0.013 6 0 0 0 0 23.8 54578 chr12 75444201 75444201 T G KCNC2 Nonsynonymous SNV K528N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.01 54579 chr2 166901590 166901590 C T rs121918817 SCN1A Nonsynonymous SNV R542Q 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 54580 chr2 167056337 167056337 C A rs149207258 SCN9A Synonymous SNV V1604V 0.061 0.073 0.061 26 72 28 0.067 18 2 1 1 1 Benign 12.03 54581 chr13 111109618 111109618 - ATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTC COL4A2-AS2 H151_Q152insEPHGRLGSHADAGHEPHGRLGSHADAGH 0.012 0.013 0.014 6 14 5 0.015 4 6 2 2 3 54582 chr2 168099144 168099144 C T rs201745859 XIRP2 Synonymous SNV C192C 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 13.22 54583 chr19 56228126 56228126 C A NLRP9 Synonymous SNV L766L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.475 54584 chr12 53343225 53343225 C T KRT18 Nonsynonymous SNV R90C 0.072 0.039 0.027 28 84 15 0.072 8 0 0 0 0 23.5 54585 chr12 53343231 53343231 G C KRT18 Nonsynonymous SNV A92P 0.051 0.029 0.024 20 60 11 0.051 7 0 0 0 0 29.9 54586 chr12 1702852 1702852 G A rs150585689 FBXL14 Synonymous SNV C127C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 4.564 54587 chr12 53343236 53343236 T C KRT18 Synonymous SNV S93S 0.038 0.018 0.02 18 45 7 0.046 6 0 0 0 0 15.15 54588 chr12 53421593 53421604 GGTATCGGGATG - rs577970499 EIF4B Y202_G205del 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 54589 chr12 15794680 15794680 C T rs75362705 EPS8 Synonymous SNV S551S 0.011 0.008 0.031 3 13 3 0.008 9 0 0 0 0 Benign/Likely benign 18.14 54590 chr13 113140349 113140349 A G rs41288614 TUBGCP3 Synonymous SNV R884R 0.095 0.081 0.088 26 111 31 0.067 26 2 0 0 0 0.061 54591 chr12 7970583 7970583 G A rs758666405 SLC2A14 Synonymous SNV V287V 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 11.36 54592 chr19 56515334 56515334 C T rs1560691 NLRP5 Synonymous SNV N105N 0.069 0.052 0.092 30 81 20 0.077 27 2 0 0 0 8.703 54593 chr12 80878273 80878273 T C rs773429164 PTPRQ Synonymous SNV T244T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.384 54594 chr12 80887129 80887129 G C PTPRQ Nonsynonymous SNV E307Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.9 54595 chr2 237103530 237103530 C T rs59098347 ASB18 Synonymous SNV Q462Q 0.013 0.005 0.01 7 15 2 0.018 3 0 0 0 0 2.43 54596 chr2 238243369 238243369 G A rs10201909 COL6A3 Synonymous SNV R2436R 0.026 0.031 0.037 10 31 12 0.026 11 1 0 0 0 Benign 9.736 54597 chr13 114504668 114504668 C T rs775063208 TMEM255B Synonymous SNV S184S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 54598 chr12 54767812 54767812 G A rs2887875 ZNF385A Synonymous SNV D102D 0.127 0.099 0.071 52 149 38 0.133 21 9 0 2 3 5.389 54599 chr2 238267717 238267717 C T rs2646254 COL6A3 Synonymous SNV L1516L 0.171 0.193 0.201 85 201 74 0.218 59 20 3 3 10 Benign 14.8 54600 chr2 238277379 238277379 C T rs61729839 COL6A3 Nonsynonymous SNV R969Q 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 Benign 23 54601 chr12 55356258 55356258 C T rs61733025 TESPA1 Nonsynonymous SNV R266Q 0.03 0.039 0.034 14 35 15 0.036 10 0 1 0 0 1.292 54602 chr2 173352458 173352458 C G rs61748247 ITGA6 Synonymous SNV V749V 0.033 0.029 0.003 8 39 11 0.021 1 1 0 0 0 Benign/Likely benign 8.462 54603 chr2 237489297 237489297 C T rs35767135 ACKR3 Synonymous SNV S63S 0.04 0.034 0.024 13 47 13 0.033 7 1 1 0 1 14 54604 chr2 238234285 238234285 A G rs112290343 COL6A3 Synonymous SNV C2530C 0.026 0.031 0.027 5 31 12 0.013 8 1 0 1 0 Benign/Likely benign 1.569 54605 chr3 33155648 33155680 CAATACGAACGCTACAGCTTCCGCAGCTTCCCA - CRTAP Q27_P37del 0.002 0 0 0 2 0 0 0 0 0 0 0 54606 chr12 26217567 26217567 T C rs1495660 RASSF8 Synonymous SNV T80T 0.004 0 0.007 1 5 0 0.003 2 1 0 0 0 0.002 54607 chr13 21729290 21729290 - AG SKA3 0.016 0.029 0.007 7 19 11 0.018 2 0 0 0 0 54608 chr13 21729291 21729291 - TTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTG SKA3 0.016 0.029 0.007 7 19 11 0.018 2 0 0 0 0 54609 chr2 239355121 239355121 A T ASB1 Nonsynonymous SNV D225V 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.3 54610 chr13 21734127 21734127 - ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG SKA3 0.006 0.018 0.02 3 7 7 0.008 6 0 0 0 0 54611 chr12 26749945 26749945 G A rs2230374 ITPR2 Synonymous SNV H1375H 0.046 0.034 0.01 13 54 13 0.033 3 1 0 0 0 8.839 54612 chr2 239059610 239059610 C T rs61736173 KLHL30 Synonymous SNV G547G 0.054 0.036 0.048 11 63 14 0.028 14 3 1 0 0 17.77 54613 chr12 53839830 53839830 G A PRR13 Nonsynonymous SNV S95N 0.002 0 0 4 2 0 0.01 0 0 0 0 0 22 54614 chr12 2921780 2921780 G C rs143545275 ITFG2-AS1 0.005 0 0 2 6 0 0.005 0 0 0 0 0 7.022 54615 chr12 29617643 29617643 G A rs117893886 OVCH1-AS1 0.022 0.036 0.02 12 26 14 0.031 6 0 0 0 0 7.991 54616 chr12 2910488 2910489 AT - FKBP4 M414Vfs*2 0.003 0 0 0 4 0 0 0 0 0 0 0 54617 chr12 56233518 56233518 G A rs2291267 MMP19 Synonymous SNV V176V 0.021 0.016 0.027 6 25 6 0.015 8 0 0 0 0 2.462 54618 chr12 94243921 94243921 G A rs201944383 CRADD Synonymous SNV S158S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.5 54619 chr12 301749 301749 C T rs75000134 SLC6A12 Synonymous SNV P532P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 17.52 54620 chr3 38833607 38833607 C T rs141278729 SCN10A Nonsynonymous SNV R108Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 23.6 54621 chr2 179467100 179467100 C T rs62178963 TTN Synonymous SNV R9278R 0.026 0.018 0.01 9 30 7 0.023 3 0 0 0 0 Benign/Likely benign 12.13 54622 chr19 58131799 58131799 A C rs200015279 ZNF134 Nonsynonymous SNV Q104H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 19.74 54623 chr12 56092668 56092668 C T rs74867235 ITGA7 Nonsynonymous SNV R279H 0.027 0.026 0.02 12 32 10 0.031 6 0 0 1 0 Benign 23.3 54624 chr12 313839 313839 G A rs188610 SLC6A12 Synonymous SNV I80I 0.004 0.008 0.014 1 5 3 0.003 4 0 0 0 0 15.39 54625 chr3 39170247 39170247 G A TTC21A Nonsynonymous SNV A533T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 54626 chr13 26436460 26436460 G A rs768202781 ATP8A2 Nonsynonymous SNV G968R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 54627 chr2 242743357 242743357 G A rs78253117 GAL3ST2 Nonsynonymous SNV G325S 0.026 0.026 0.034 6 31 10 0.015 10 1 2 1 0 10.28 54628 chr12 31825299 31825299 T C AMN1 Nonsynonymous SNV E239G 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 54629 chr2 179598228 179598228 A G rs12993099 TTN Synonymous SNV I4020I 0.145 0.135 0.102 43 170 52 0.11 30 16 3 1 3 Benign/Likely benign 5.05 54630 chr2 242003487 242003487 C T rs17852471 SNED1 Synonymous SNV G848G 0.17 0.177 0.139 66 199 68 0.169 41 18 7 5 6 15.11 54631 chr19 58774060 58774060 C A ZNF544 Synonymous SNV S668S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 54632 chr19 58791254 58791254 A T rs77570482 ZNF8-ERVK3-1 0 0 0.156 0 0 0 0 46 0 0 0 0 1.103 54633 chr19 58806456 58806456 C T rs761083726 ZNF8 Nonsynonymous SNV R428C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 54634 chr3 4345184 4345184 C T rs60314351 SETMAR Nonsynonymous SNV P44S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.24 54635 chr2 242163538 242163538 G A rs115620538 ANO7 Synonymous SNV T870T 0.023 0.029 0.017 11 27 11 0.028 5 0 0 0 0 10.19 54636 chr3 42133047 42133047 C T TRAK1 Nonsynonymous SNV A29V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.152 54637 chr19 59084181 59084181 G C rs1867727 MZF1-AS1 0 0 0.235 0 0 0 0 69 0 0 4 0 11.09 54638 chr19 59084306 59084306 T G rs1867726 MZF1-AS1 0 0 0.235 0 0 0 0 69 0 0 4 0 8.286 54639 chr19 59093239 59093239 T C rs10448 CENPBD1P1 0 0 0.384 0 0 0 0 113 0 0 32 0 1.356 54640 chr19 59093464 59093464 C T rs7910 CENPBD1P1 0 0 0.497 0 0 0 0 146 0 0 35 0 6.161 54641 chr13 103382660 103382660 A G rs144153566 CCDC168 Nonsynonymous SNV V6796A 0.014 0.021 0.01 8 16 8 0.021 3 0 0 0 0 22 54642 chr19 59093484 59093484 G T rs3499 CENPBD1P1 0 0 0.497 0 0 0 0 146 0 0 35 0 2.331 54643 chr3 9066966 9066966 T C SRGAP3 Nonsynonymous SNV I529V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 26.4 54644 chr13 32906480 32906480 A C rs766173 BRCA2 Nonsynonymous SNV N289H 0.043 0.021 0.037 17 51 8 0.044 11 2 0 0 0 Benign 0.118 54645 chr13 32906980 32906980 A G rs1801439 BRCA2 Synonymous SNV S455S 0.043 0.021 0.051 16 51 8 0.041 15 2 0 0 0 Benign 0.465 54646 chr13 32910721 32910721 T C rs1801499 BRCA2 Synonymous SNV H743H 0.043 0.021 0.051 17 51 8 0.044 15 2 0 0 0 Benign 0.003 54647 chr3 1337371 1337371 T C rs150338565 CNTN6 Synonymous SNV L109L 0.02 0.01 0.01 3 23 4 0.008 3 0 0 0 0 Benign 2.37 54648 chr2 182400233 182400233 C T rs61731209 ITGA4 Synonymous SNV N1026N 0.019 0.016 0.01 10 22 6 0.026 3 0 0 0 1 9.211 54649 chr13 32911463 32911463 A G rs1799944 BRCA2 Nonsynonymous SNV N991D 0.043 0.021 0.051 17 51 8 0.044 15 2 0 0 0 Benign 0.002 54650 chr12 42481732 42481732 G A rs7972986 GXYLT1 Synonymous SNV D362D 0.039 0.044 0.027 11 46 17 0.028 8 12 4 3 1 0.08 54651 chr12 58015264 58015264 A - rs143869435 LOC101927583 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 54652 chr12 58021929 58021929 C T rs61649746 B4GALNT1 Synonymous SNV V318V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 13.75 54653 chr13 103399313 103399313 G A rs145707243 CCDC168 Nonsynonymous SNV T1245I 0.013 0.005 0.007 7 15 2 0.018 2 0 0 0 0 1.738 54654 chr13 103399456 103399456 T C rs138353836 CCDC168 Synonymous SNV K1197K 0.014 0.021 0.01 8 16 8 0.021 3 0 0 0 0 14.33 54655 chr12 44177511 44177511 G A rs55944915 IRAK4 Nonsynonymous SNV R267H 0.019 0.021 0.024 7 22 8 0.018 7 0 0 0 0 Benign 31 54656 chr12 62959137 62959137 A G rs11174549 MON2 Nonsynonymous SNV I1385V 0.06 0.063 0.054 9 70 24 0.023 16 0 1 1 0 8.697 54657 chr3 10334449 10334449 A - rs1038349625 GHRLOS 0.002 0 0 2 2 0 0.005 0 0 0 0 0 54658 chr12 59284551 59284551 G T rs11172799 LRIG3 Synonymous SNV L77L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 6.2 54659 chr12 42538371 42538371 G C GXYLT1 Synonymous SNV L26L 0.017 0.026 0.003 18 20 10 0.046 1 0 0 0 0 9.79 54660 chr3 9099989 9099989 A G rs61747289 SRGAP3 Synonymous SNV N323N 0.039 0.044 0.041 12 46 17 0.031 12 0 0 0 0 5.634 54661 chr12 43823449 43823449 C T rs755614729 ADAMTS20 Nonsynonymous SNV A1154T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 54662 chr3 9729540 9729540 T C rs768166936 MTMR14 Synonymous SNV I400I 0.003 0 0 0 4 0 0 0 0 0 0 0 10.03 54663 chr19 6972357 6972357 C T rs252579 ADGRE4P 0 0 0.221 0 0 0 0 65 0 0 7 0 8.7 54664 chr13 39262435 39262435 C G rs9576597 FREM2 Synonymous SNV P318P 0.012 0.005 0.007 4 14 2 0.01 2 0 0 0 0 Benign 6.579 54665 chr19 6981763 6981763 G A rs2035970 ADGRE4P 0 0 0.082 0 0 0 0 24 0 0 2 0 0.191 54666 chr19 7005905 7005905 T A rs6510941 FLJ25758 0 0 0.156 0 0 0 0 46 0 0 23 0 3.966 54667 chr3 9952667 9952667 C T rs779959781 IL17RE Synonymous SNV H191H 0.007 0.01 0 0 8 4 0 0 0 0 0 0 4.371 54668 chr12 6554328 6554328 G A rs975388482 CD27 Nonsynonymous SNV A23T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 23.4 54669 chr3 44881909 44881909 A G rs76526953 KIF15 Synonymous SNV Q1127Q 0.049 0.044 0.082 24 57 17 0.062 24 1 1 0 2 7.281 54670 chr3 44903434 44903434 G C rs2292181 TMEM42 Synonymous SNV G6G 0.06 0.055 0.065 25 71 21 0.064 19 1 1 0 2 7.336 54671 chr2 186668344 186668344 G A rs1002167654 FSIP2 Nonsynonymous SNV D4771N 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.01 54672 chr12 47629856 47629856 C T PCED1B Nonsynonymous SNV P337L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 54673 chr12 48137373 48137373 A G rs149913457 RAPGEF3 Synonymous SNV L547L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.126 54674 chr13 111290628 111290628 G C rs41275124 NAXD Nonsynonymous SNV E311D 0.032 0.049 0.034 8 38 19 0.021 10 1 1 0 0 4.859 54675 chr13 42385446 42385446 T C rs9562353 VWA8 Nonsynonymous SNV R660G 0.045 0.047 0.041 20 53 18 0.051 12 0 1 0 0 25.5 54676 chr13 111340101 111340101 T A rs72661692 CARS2 Nonsynonymous SNV I180F 0.076 0.089 0.092 22 89 34 0.056 27 5 2 1 0 Benign 13.93 54677 chr19 7998386 7998386 G C rs118048213 TIMM44 Nonsynonymous SNV N251K 0.043 0.07 0.075 18 51 27 0.046 22 1 2 1 0 Benign 24.2 54678 chr3 45988525 45988525 C T rs61751654 CXCR6 Synonymous SNV D184D 0.013 0.016 0.02 10 15 6 0.026 6 0 0 0 0 Benign 6.42 54679 chr2 187693155 187693155 A T rs10195758 ZSWIM2 Nonsynonymous SNV D486E 0.089 0.091 0.078 31 105 35 0.079 23 7 2 0 0 0.003 54680 chr12 668548 668548 G A rs112805900 B4GALNT3 Nonsynonymous SNV R950Q 0.009 0.013 0.01 6 10 5 0.015 3 0 0 0 0 34 54681 chr2 187697883 187697883 A G rs10164815 ZSWIM2 Nonsynonymous SNV I302T 0.089 0.091 0 30 105 35 0.077 0 7 2 0 0 6.372 54682 chr12 6690909 6690909 C T rs34863790 CHD4 Synonymous SNV K1522K 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 15.02 54683 chr13 113814468 113814468 G C PROZ Nonsynonymous SNV V71L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.2 54684 chr12 6729956 6729956 G A rs3741924 LPAR5 Synonymous SNV A153A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 12.27 54685 chr3 14801402 14801402 G A rs200775120 C3orf20 Nonsynonymous SNV R628Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 10.6 54686 chr13 114624033 114624033 C T rs140065392 LINC00452 0.001 0 0 0 1 0 0 0 0 0 0 0 8.949 54687 chr13 114765082 114765082 C T rs148651994 RASA3 Synonymous SNV E605E 0.006 0 0.003 2 7 0 0.005 1 1 0 0 0 8.634 54688 chr3 13383315 13383315 G C rs142731621 NUP210 Nonsynonymous SNV T1054S 0.008 0.008 0.01 1 9 3 0.003 3 0 0 0 0 25.2 54689 chr13 21549350 21549350 T C rs140059642 LATS2 Nonsynonymous SNV I976V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.108 54690 chr12 48962869 48962869 A G rs2232566 LALBA Synonymous SNV C96C 0.053 0.06 0.034 12 62 23 0.031 10 3 1 0 0 3.432 54691 chr12 6976694 6976694 C T rs375321131 TPI1 Synonymous SNV R25R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 54692 chr13 49076863 49076863 C T rs151299421 RCBTB2 Nonsynonymous SNV V98M 0.01 0.013 0.014 8 12 5 0.021 4 0 0 0 0 24.8 54693 chr3 47045846 47045846 C T rs2305637 NBEAL2 Nonsynonymous SNV S2020F 0.145 0.135 0.143 48 170 52 0.123 42 12 5 2 3 Benign 29.4 54694 chr3 47046485 47046485 C T rs141569354 NBEAL2 Synonymous SNV Y2072Y 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 11.82 54695 chr12 50028981 50028981 G A rs200033753 PRPF40B Synonymous SNV E345E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.288 54696 chr19 886001 886001 G C rs12462823 MED16 Synonymous SNV A216A 0.019 0.023 0.017 11 22 9 0.028 5 0 0 0 0 9.134 54697 chr12 7045891 7045891 - CAGCAGCAG rs782630098 ATN1 Q502_H503insQQQ 0.014 0.016 0 9 17 6 0.023 0 0 0 0 0 54698 chr12 71928923 71928923 G A rs750993587 LGR5 Nonsynonymous SNV V129I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25 54699 chr12 71977787 71977787 T C rs17109924 LGR5 Nonsynonymous SNV V642A 0.066 0.055 0.065 30 78 21 0.077 19 3 0 0 3 12.03 54700 chr12 72008421 72008421 T C rs11541286 ZFC3H1 Nonsynonymous SNV K1807R 0.062 0.057 0.071 30 73 22 0.077 21 2 0 0 3 11.75 54701 chr3 47458997 47458997 C T rs527747059 SCAP Nonsynonymous SNV E667K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 54702 chr13 50656504 50656504 G C rs41284818 DLEU1 0.026 0.029 0.02 15 30 11 0.038 6 0 0 0 0 4.157 54703 chr12 72070506 72070508 GTT - rs140783391 THAP2 C103del 0.047 0.055 0.068 26 55 21 0.067 20 1 0 0 3 54704 chr3 25639828 25639828 T A rs61739570 TOP2B Nonsynonymous SNV E1612D 0.045 0.036 0.02 17 53 14 0.044 6 1 1 0 1 0.001 54705 chr3 47551736 47551736 T C rs868607556 ELP6 Nonsynonymous SNV K48E 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 54706 chr3 14180731 14180731 C T rs113449357 TMEM43 Nonsynonymous SNV R312W 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign/Likely benign 34 54707 chr3 25705758 25705758 C T rs145455403 TOP2B Nonsynonymous SNV A11T 0.032 0.026 0.02 15 38 10 0.038 6 0 0 0 1 15.72 54708 chr12 72307637 72307637 C G rs11178983 TBC1D15 Synonymous SNV S444S 0.083 0.094 0.099 34 98 36 0.087 29 4 1 1 2 13.23 54709 chr12 72026265 72026265 A G rs74812753 ZFC3H1 Synonymous SNV S949S 0.027 0.031 0.02 12 32 12 0.031 6 1 0 0 0 6.666 54710 chr3 47891036 47891036 C T rs9871162 DHX30 Synonymous SNV T1061T 0.018 0.008 0 7 21 3 0.018 0 0 0 0 0 11.02 54711 chr12 72666618 72666618 A C rs11179139 TRHDE Synonymous SNV A20A 0.02 0.018 0.037 9 23 7 0.023 11 0 0 0 0 11.48 54712 chr12 7280880 7280880 C G rs7969705 RBP5 Nonsynonymous SNV E70Q 0.09 0.096 0.061 30 106 37 0.077 18 8 2 0 0 22.2 54713 chr3 14214524 14214524 G A rs2229089 XPC Nonsynonymous SNV L48F 0.015 0.013 0.02 12 18 5 0.031 6 0 0 0 2 Benign 0.026 54714 chr12 7287956 7287956 C T rs34933247 CLSTN3 Synonymous SNV N139N 0.09 0.091 0.054 31 106 35 0.079 16 7 2 0 1 14.02 54715 chr3 48228212 48228212 G A rs3731494 CDC25A Synonymous SNV S76S 0.013 0.016 0.01 7 15 6 0.018 3 0 0 0 0 4.919 54716 chr12 7527284 7527284 C T rs36206713 CD163L1 Nonsynonymous SNV G1065S 0.019 0.021 0.003 5 22 8 0.013 1 0 0 0 0 23.9 54717 chr3 27760367 27760367 G A rs147676215 EOMES Synonymous SNV S392S 0.008 0.01 0.02 6 9 4 0.015 6 0 0 0 0 Likely benign 12.05 54718 chr19 9046885 9046885 T C rs62118304 MUC16 Synonymous SNV A11582A 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 1.493 54719 chr3 48668685 48668685 C T rs199885045 SLC26A6 Nonsynonymous SNV V213I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.09 54720 chr3 48682936 48682936 T C rs146926962 CELSR3 Synonymous SNV A2579A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 9.174 54721 chr3 49050117 49050117 C T WDR6 Synonymous SNV L358L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.053 54722 chr3 49055902 49055902 G T rs375207499 DALRD3 Synonymous SNV T32T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.421 54723 chr13 67205537 67205537 G A rs776798396 PCDH9 Nonsynonymous SNV R1015C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 54724 chr13 73346881 73346881 G A DIS3 Stop gain Q323X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 54725 chr3 33552155 33552155 G A rs61735757 CLASP2 Synonymous SNV Y1192Y 0.034 0.034 0.01 16 40 13 0.041 3 2 0 0 0 4.619 54726 chr3 33759390 33759390 G C rs115396290 CLASP2 Synonymous SNV P35P 0.034 0.034 0.01 17 40 13 0.044 3 2 0 0 0 9.97 54727 chr13 76374870 76374870 C T rs41286124 LMO7 Synonymous SNV Y129Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 18.61 54728 chr3 36949828 36949828 C T TRANK1 Synonymous SNV Q47Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.2 54729 chr12 52408888 52408888 C G rs7974426 GRASP Nonsynonymous SNV L222V 0.022 0.023 0.014 4 26 9 0.01 4 1 0 0 0 14.62 54730 chr13 77748559 77748559 T C rs149196565 MYCBP2 Synonymous SNV G1846G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.956 54731 chr3 38158482 38158482 G A rs915645 DLEC1 Nonsynonymous SNV G1402D 0.001 0 0 4 1 0 0.01 0 0 0 0 0 24.2 54732 chr2 204305899 204305899 G A rs137979008 RAPH1 Nonsynonymous SNV R672W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26.5 54733 chr13 78216915 78216915 C T rs2813739 SCEL Synonymous SNV H632H 0.119 0.117 0.139 57 140 45 0.146 41 12 5 3 4 12.69 54734 chr13 78272267 78272267 - GG rs201380414 SLAIN1 Frameshift insertion L75Afs*125 0.141 0.115 0.218 106 165 44 0.272 64 82 22 32 53 54735 chr3 49934174 49934174 T G rs149428633 MST1R Nonsynonymous SNV N672T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.47 54736 chr13 78272276 78272276 - C rs542815284 SLAIN1 Frameshift insertion L78Ffs*35 0.163 0.146 0.224 108 191 56 0.277 66 95 28 33 54 54737 chr13 86368706 86368706 C T SLITRK6 Synonymous SNV E646E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.725 54738 chr3 38591853 38591853 A G rs41311117 SCN5A Nonsynonymous SNV F1986L 0.003 0 0 6 4 0 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.354 54739 chr3 51428887 51428887 C G rs57700326 RBM15B Synonymous SNV S19S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 1 16.25 54740 chr2 207173390 207173390 G A rs79484112 ZDBF2 Nonsynonymous SNV E1380K 0.027 0.018 0.054 9 32 7 0.023 16 0 0 0 0 10.63 54741 chr3 51430657 51430657 A C rs3804766 RBM15B Synonymous SNV S609S 0.041 0.029 0.024 18 48 11 0.046 7 6 0 0 1 0.003 54742 chr3 51737965 51737965 G A rs11553574 TEX264 Nonsynonymous SNV G218E 0.041 0.031 0.031 18 48 12 0.046 9 6 0 0 1 0.024 54743 chr2 207175070 207175070 G A rs138061259 ZDBF2 Nonsynonymous SNV A1940T 0.027 0.018 0.054 9 32 7 0.023 16 0 0 0 0 17.98 54744 chr12 85674230 85674230 G T rs115596276 ALX1 Nonsynonymous SNV R64L 0.008 0.005 0.014 4 9 2 0.01 4 0 0 0 0 Benign/Likely benign 23 54745 chr12 52284274 52284274 G A rs7303111 ANKRD33 0.21 0.224 0.194 89 247 86 0.228 57 28 8 6 11 3.345 54746 chr12 52962050 52962050 G A rs139723680 KRT74 Nonsynonymous SNV R420W 0.029 0.01 0.007 8 34 4 0.021 2 0 0 0 0 Likely benign 26.2 54747 chr3 52245566 52245566 G A rs200922726 ALAS1 Nonsynonymous SNV R533Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 54748 chr3 33194757 33194757 T C rs191836311 SUSD5 Nonsynonymous SNV E456G 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 12.08 54749 chr19 966584 966584 C T rs145850291 ARID3A Nonsynonymous SNV A404V 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 23.2 54750 chr12 52642536 52642536 C T rs375500391 KRT7 Nonsynonymous SNV R468C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 54751 chr19 990265 990265 C T rs774196977 WDR18 Synonymous SNV H166H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 54752 chr12 53045759 53045759 G A rs637247 KRT2 Synonymous SNV G56G 0.013 0 0.01 2 15 0 0.005 3 0 0 0 0 Benign 11.59 54753 chr19 9921880 9921880 G A rs140944467 FBXL12 Nonsynonymous SNV R192C 0.003 0 0.01 0 3 0 0 3 0 0 0 0 23.9 54754 chr13 37583420 37583420 G C rs36027220 EXOSC8 Nonsynonymous SNV S272T 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 14.01 54755 chr12 53074058 53074058 G A rs828367 KRT1 Synonymous SNV I25I 0.049 0.052 0.051 16 57 20 0.041 15 0 0 0 0 Benign 9.125 54756 chr3 52523625 52523625 G T NISCH Synonymous SNV P1129P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.214 54757 chr12 53086626 53086626 G A rs828109 KRT77 Synonymous SNV D373D 0.055 0.057 0.054 18 64 22 0.046 16 5 1 1 2 4.549 54758 chr12 53088525 53088525 G A rs585664 KRT77 Nonsynonymous SNV S322F 0.05 0.055 0.051 16 59 21 0.041 15 0 0 0 0 28.4 54759 chr12 53091676 53091676 C T rs668313 KRT77 Nonsynonymous SNV R183Q 0.05 0.055 0.051 16 59 21 0.041 15 0 0 0 0 34 54760 chr12 52818419 52818419 C T rs61735042 KRT75 Nonsynonymous SNV G513D 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 22.6 54761 chr3 38052725 38052725 C T rs933135 PLCD1 Nonsynonymous SNV R278H 0.039 0.049 0.014 17 46 19 0.044 4 1 0 0 0 26.3 54762 chr3 38053062 38053062 G A rs368360654 PLCD1 Synonymous SNV D198D 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 1.931 54763 chr1 10238770 10238770 A G rs7546642 UBE4B Synonymous SNV T1069T 0.035 0.044 0.048 13 41 17 0.033 14 1 0 0 0 5.714 54764 chr1 103345315 103345315 C T rs140250347 COL11A1 Nonsynonymous SNV R1617H 0.007 0 0.007 0 8 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 54765 chr3 42727840 42727840 G A KLHL40 Nonsynonymous SNV V244M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.2 54766 chr1 10364526 10364526 C G rs757702990 KIF1B Nonsynonymous SNV Q1095E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.81 54767 chr1 10421878 10421878 A G rs12125492 KIF1B Synonymous SNV P1387P 0.126 0.128 0.129 48 148 49 0.123 38 11 3 3 4 Benign 9.592 54768 chr2 210558134 210558134 G T rs41265969 MAP2 Nonsynonymous SNV A410S 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 Benign 0.239 54769 chr14 102467991 102467991 G A rs186932188 DYNC1H1 Synonymous SNV S1505S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.19 54770 chr13 41835039 41835039 T C rs9532758 MTRF1 Nonsynonymous SNV N2S 0.078 0.094 0.095 24 91 36 0.062 28 1 1 1 1 6.781 54771 chr3 52857709 52857709 C T rs779357305 ITIH4 Nonsynonymous SNV E468K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 54772 chr12 94620432 94620432 G T rs75674989 PLXNC1 Nonsynonymous SNV R614S 0.025 0.042 0.034 6 29 16 0.015 10 1 1 1 0 8.291 54773 chr12 94631496 94631496 C T rs2230755 PLXNC1 Synonymous SNV N679N 0.022 0.036 0.034 6 26 14 0.015 10 0 1 1 0 10.97 54774 chr14 103396060 103396060 A G rs146499374 AMN Nonsynonymous SNV T277A 0.008 0.021 0.02 5 9 8 0.013 6 0 0 0 0 Benign 0.023 54775 chr2 214160817 214160817 G A rs61752198 SPAG16 Nonsynonymous SNV D56N 0.02 0.016 0.014 7 24 6 0.018 4 1 0 0 0 25.6 54776 chr2 214354811 214354811 G A rs61752199 SPAG16 Nonsynonymous SNV S356N 0.02 0.016 0.007 7 24 6 0.018 2 1 0 0 0 26.2 54777 chr12 95879734 95879734 C T rs2305293 METAP2 Synonymous SNV C112C 0.048 0.06 0.071 20 56 23 0.051 21 1 0 1 1 15.33 54778 chr3 53912396 53912396 C T rs115414098 ACTR8 Synonymous SNV V131V 0.01 0.008 0.01 6 12 3 0.015 3 0 0 0 0 17.41 54779 chr12 53164847 53164847 C T rs61730596 KRT76 Nonsynonymous SNV V474I 0.007 0.003 0.01 4 8 1 0.01 3 0 0 0 0 25 54780 chr1 109801345 109801345 C T rs75237799 CELSR2 Nonsynonymous SNV P1201L 0.008 0.016 0.003 7 9 6 0.018 1 0 0 0 0 26.1 54781 chr13 46840996 46840996 A C rs41284167 LRRC63 Nonsynonymous SNV Y480S 0.067 0.049 0.048 32 79 19 0.082 14 5 2 2 2 0.02 54782 chr2 217293442 217293442 A T rs2066520 SMARCAL1 Nonsynonymous SNV D424V 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Benign/Likely benign 29.4 54783 chr12 99119209 99119209 T C rs138188210 APAF1 Nonsynonymous SNV L1062P 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 Likely benign 0.048 54784 chr3 58395842 58395842 A T rs140203295 PXK Nonsynonymous SNV N337I 0.026 0.016 0.014 6 30 6 0.015 4 1 0 0 0 Benign 20.8 54785 chr3 45267016 45267033 GGCGGCGGCGGCGCTGGG - TMEM158 P163_A168del 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 54786 chr13 100807260 100807260 G C rs150788587 PCCA Nonsynonymous SNV V84L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Uncertain significance 22.6 54787 chr2 218762663 218762665 TCC - rs200962764 TNS1 E8del 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 54788 chr12 55641811 55641811 C T rs79165229 OR6C74 Nonsynonymous SNV S247F 0.022 0.016 0.014 5 26 6 0.013 4 0 0 0 0 25.4 54789 chr3 45817417 45817417 C T rs200334820 SLC6A20 Nonsynonymous SNV E140K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 54790 chr12 55641920 55641920 G A rs73322883 OR6C74 Synonymous SNV L283L 0.066 0.07 0.054 28 77 27 0.072 16 1 1 0 1 9.56 54791 chr1 111144661 111144661 A G rs12407942 KCNA2 Synonymous SNV D342D 0.049 0.063 0.068 17 57 24 0.044 20 2 1 1 0 1.961 54792 chr2 219508107 219508107 G C ZNF142 Nonsynonymous SNV H1044Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.03 54793 chr13 53313271 53313271 G C rs370831362 CNMD Synonymous SNV P36P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.26 54794 chr3 44488656 44488656 C A rs137928809 ZNF445 Nonsynonymous SNV G824V 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 23 54795 chr13 60435660 60435660 G T rs377702851 DIAPH3 Nonsynonymous SNV T610K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 29.8 54796 chr1 112533790 112533790 A T rs770291476 LINC01750 0 0 0.003 0 0 0 0 1 0 0 0 0 7.829 54797 chr1 11291032 11291032 C T MTOR Nonsynonymous SNV R910Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 54798 chr3 46751074 46751079 AAGAAG - rs544504092 TMIE K77_K78del 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 54799 chr3 46751077 46751079 AAG - TMIE K78del 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 54800 chr14 20483009 20483009 A G rs370671406 OR4K14 Nonsynonymous SNV L115P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 54801 chr1 113252852 113252854 TTG - rs138165734 PPM1J N483del 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 54802 chr13 103701690 103701690 G A rs56398830 SLC10A2 Nonsynonymous SNV P290S 0.03 0.031 0.041 25 35 12 0.064 12 0 1 0 1 Conflicting interpretations of pathogenicity 28.3 54803 chr12 57004268 57004268 G A rs34393899 BAZ2A Synonymous SNV S568S 0.036 0.021 0.027 11 42 8 0.028 8 1 0 0 0 11.02 54804 chr3 45869972 45869972 C T rs1129183 LZTFL1 Nonsynonymous SNV D246N 0.08 0.081 0.037 31 94 31 0.079 11 7 0 0 0 26.2 54805 chr14 20585924 20585924 A G rs61733476 OR4K17 Nonsynonymous SNV Q92R 0.014 0.016 0.01 2 16 6 0.005 3 0 0 0 0 0.001 54806 chr3 47161832 47161832 C T rs779275813 SETD2 Nonsynonymous SNV E1388K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 54807 chr3 47308746 47308746 G A rs115200348 KIF9 Nonsynonymous SNV T200I 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 25.2 54808 chr14 20711192 20711192 T A rs375864796 OR11H4 Nonsynonymous SNV I81N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 54809 chr1 116206423 116206423 G A rs4839469 VANGL1 Nonsynonymous SNV A114T 0.158 0.164 0.119 55 185 63 0.141 35 20 4 1 1 Benign 13.9 54810 chr3 47467593 47467593 C T rs142984933 SCAP Synonymous SNV A13A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 18.02 54811 chr12 57648626 57648626 C T R3HDM2 Nonsynonymous SNV S936N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 54812 chr3 47957596 47957596 T G rs140928289 MAP4 Nonsynonymous SNV K574T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 54813 chr1 116941613 116941613 C T rs144039896 ATP1A1 Synonymous SNV P785P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 19.21 54814 chr1 117078826 117078826 G A CD58 Nonsynonymous SNV T130I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 54815 chr12 57867836 57867836 C T rs141789438 ARHGAP9 Nonsynonymous SNV R325H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 54816 chr1 117487392 117487392 C T rs148769134 PTGFRN Synonymous SNV T170T 0.014 0.013 0.014 6 17 5 0.015 4 0 0 0 0 17.83 54817 chr2 220470740 220470740 C T STK11IP Nonsynonymous SNV R270W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.3 54818 chr3 46539699 46539699 C T rs35430846 RTP3 Synonymous SNV T49T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 9.008 54819 chr12 56385916 56385918 GGA - rs546890334 RAB5B G150del 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 54820 chr3 48463799 48463799 T G rs114964512 PLXNB1 Nonsynonymous SNV S454R 0.009 0.016 0.017 8 11 6 0.021 5 0 0 0 0 27.2 54821 chr13 111938511 111938511 T C rs72653559 ARHGEF7 Synonymous SNV P421P 0.016 0.003 0.014 3 19 1 0.008 4 0 0 0 0 6.964 54822 chr2 220502903 220502903 G A rs387907534 SLC4A3 Synonymous SNV G955G 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Uncertain significance 12.68 54823 chr13 112722658 112722663 CGCACC - rs764819870 SOX1 P233_H234del 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 54824 chr2 223085955 223085955 G T rs2234675 PAX3 Nonsynonymous SNV T314K 0.024 0.023 0.017 19 28 9 0.049 5 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 54825 chr13 111267970 111267970 G A NAXD Stop gain W11X 0.01 0.003 0 0 12 1 0 0 0 0 0 0 7.928 54826 chr3 46775313 46775313 C T rs183295296 PRSS46P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.74 54827 chr3 48965078 48965078 A C rs34221642 ARIH2 Nonsynonymous SNV E29D 0.025 0.021 0.024 15 29 8 0.038 7 0 1 0 0 0.001 54828 chr14 100795834 100795844 ACTGTATGGTG - SLC25A47 C115Qfs*33 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 54829 chr13 111563052 111563052 C T rs34628205 ANKRD10 Synonymous SNV A92A 0.041 0.023 0.031 12 48 9 0.031 9 1 0 0 0 16.71 54830 chr14 21216128 21216128 A G rs200901073 EDDM3A Nonsynonymous SNV D130G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.9 54831 chr12 56994170 56994170 C T rs1527140 BAZ2A Synonymous SNV E1569E 0.029 0.021 0.037 9 34 8 0.023 11 0 0 1 0 9.942 54832 chr12 57006998 57006998 T C rs7974600 BAZ2A Synonymous SNV L312L 0.025 0.016 0.034 8 29 6 0.021 10 0 0 0 0 7.123 54833 chr14 21469136 21469136 T A rs72684072 SLC39A2 Nonsynonymous SNV S110T 0.003 0.003 0 7 3 1 0.018 0 0 0 0 0 25.7 54834 chr3 49689487 49689487 G A rs368276734 BSN Nonsynonymous SNV R833Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.11 54835 chr13 114061634 114061634 C T rs564314253 LOC101928841 Nonsynonymous SNV V291M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.324 54836 chr12 57111539 57111539 G A rs200567357 NACA Nonsynonymous SNV P1259S 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 1.625 54837 chr13 114175013 114175013 G A rs148880361 TMCO3 Synonymous SNV P372P 0.01 0.01 0.02 4 12 4 0.01 6 0 0 0 0 Benign 10.77 54838 chr12 57345982 57345982 G A RDH16 Nonsynonymous SNV S117L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.322 54839 chr12 57501984 57501984 C T rs150870444 STAT6 Synonymous SNV L26L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 54840 chr1 120458122 120458122 A T rs35586704 NOTCH2 Nonsynonymous SNV L2408H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Likely benign 25.5 54841 chr3 49946577 49946577 G A rs200619339 MON1A Nonsynonymous SNV A448V 0 0 0 1 0 0 0.003 0 0 0 0 0 31 54842 chr12 57861785 57861785 T C rs61734545 GLI1 Synonymous SNV Y234Y 0.019 0.023 0.014 7 22 9 0.018 4 0 0 0 0 0.003 54843 chr3 50327010 50327010 T C rs34364099 IFRD2 Nonsynonymous SNV Y280C 0.007 0.005 0.014 5 8 2 0.013 4 0 0 0 0 0.624 54844 chr1 1246303 1246303 G A rs41285824 PUSL1 Synonymous SNV T261T 0.032 0.034 0.037 15 37 13 0.038 11 0 0 0 1 6.457 54845 chr12 57919573 57919573 G A MBD6 Synonymous SNV P274P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.612 54846 chr12 57920935 57920935 C A rs76917839 MBD6 Synonymous SNV A669A 0.003 0 0.003 7 4 0 0.018 1 0 0 0 0 Benign 11.4 54847 chr12 57987816 57987816 G A rs61754175 PIP4K2C Synonymous SNV E61E 0.004 0 0.007 7 5 0 0.018 2 0 0 0 0 8.872 54848 chr13 20637071 20637071 A G rs185714432 ZMYM2 Synonymous SNV P999P 0.014 0.005 0 5 17 2 0.013 0 0 0 0 0 9.328 54849 chr2 228173944 228173944 G A rs200858199 COL4A3 Synonymous SNV A1555A 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 Benign/Likely benign 13.43 54850 chr12 58007121 58007121 G A rs145818840 ARHGEF25 Synonymous SNV E129E 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 0.214 54851 chr1 1342394 1342394 G A rs11548045 MRPL20 Synonymous SNV F31F 0.032 0.034 0.037 15 38 13 0.038 11 0 0 0 1 10.37 54852 chr3 48689446 48689446 C A CELSR3 Synonymous SNV P1929P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.8 54853 chr1 14075880 14075880 C T rs75417771 PRDM2 Synonymous SNV L137L 0.043 0.023 0.037 8 50 9 0.021 11 0 0 0 0 18.12 54854 chr13 21734127 21734127 - ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTGTA SKA3 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 54855 chr3 52282458 52282458 C G rs116696868 PPM1M Nonsynonymous SNV H89Q 0.003 0.003 0.014 5 3 1 0.013 4 0 0 0 0 22.2 54856 chr2 230341855 230341855 C A DNER 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 25.5 54857 chr12 66245426 66245426 C T rs112457656 HMGA2-AS1 0.017 0.01 0.007 7 20 4 0.018 2 0 0 0 0 1.699 54858 chr13 24234628 24234628 C T rs138676880 TNFRSF19 Synonymous SNV C113C 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 10.04 54859 chr3 52475880 52475880 G A rs149481070 SEMA3G Nonsynonymous SNV R169W 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 24.2 54860 chr1 145039831 145039831 A G rs1343582 LOC100996724 0 0 0.35 0 0 0 0 103 0 0 0 0 11.22 54861 chr1 145039866 145039866 A G rs1445033 LOC100996724 0 0 0.405 0 0 0 0 119 0 0 0 0 7.062 54862 chr13 24823894 24823894 C T rs7330736 SPATA13 Nonsynonymous SNV R20W 0.043 0.063 0.027 20 51 24 0.051 8 2 1 0 0 23.9 54863 chr12 6664824 6664824 C T rs191501072 IFFO1 Synonymous SNV Q124Q 0.011 0.005 0.003 2 13 2 0.005 1 1 0 0 0 11.74 54864 chr14 23374340 23374340 C T rs183387471 RBM23 Nonsynonymous SNV R196Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.2 54865 chr2 231973567 231973567 A G rs781406222 HTR2B Synonymous SNV Y370Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.01 54866 chr3 52557445 52557445 G A rs116423614 STAB1 Synonymous SNV T2381T 0.068 0.063 0.078 31 80 24 0.079 23 4 0 2 0 10.27 54867 chr13 25283596 25283596 C T rs2289909 ATP12A Nonsynonymous SNV P869L 0.037 0.039 0.037 14 44 15 0.036 11 0 2 0 0 22.7 54868 chr14 105344823 105344823 G A rs41314519 CEP170B Synonymous SNV P36P 0.064 0.06 0.031 31 75 23 0.079 9 0 1 1 1 12.64 54869 chr14 105346632 105346632 G A rs72700176 CEP170B Synonymous SNV K44K 0.063 0.063 0.031 31 74 24 0.079 9 0 1 1 1 10.3 54870 chr2 233660846 233660846 G A rs2305138 GIGYF2 Synonymous SNV E512E 0.039 0.034 0.031 14 46 13 0.036 9 1 0 0 0 Benign 10.08 54871 chr14 105398392 105398392 G A rs74316182 PLD4 Nonsynonymous SNV G375S 0.055 0.068 0.02 30 65 26 0.077 6 1 2 0 1 6.047 54872 chr12 69233215 69233215 A G rs769412 MDM2 Synonymous SNV E158E 0.05 0.065 0.065 29 59 25 0.074 19 2 3 0 1 0.759 54873 chr3 51429170 51429170 C T rs538902846 RBM15B Nonsynonymous SNV P114S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.124 54874 chr3 52813491 52813491 G A rs147534607 ITIH1 Nonsynonymous SNV V10I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.061 54875 chr14 105407327 105407327 G A rs77215854 AHNAK2 Nonsynonymous SNV P4721S 0.056 0.068 0.02 31 66 26 0.079 6 1 2 0 2 0.002 54876 chr12 6602076 6602076 T A rs1007178680 MRPL51 Nonsynonymous SNV N48Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28 54877 chr14 105407525 105407525 G A rs76611205 AHNAK2 Nonsynonymous SNV P4655S 0.055 0.068 0.02 31 65 26 0.079 6 1 2 0 2 0.028 54878 chr12 662878 662878 G A rs202219145 B4GALNT3 Nonsynonymous SNV A597T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.12 54879 chr12 66308644 66308644 A G rs10878345 HMGA2 Nonsynonymous SNV R132G 0.023 0.039 0.088 27 27 15 0.069 26 9 6 9 9 0.275 54880 chr13 29599410 29599410 C T rs116224145 MTUS2 Nonsynonymous SNV P192L 0.041 0.031 0.034 15 48 12 0.038 10 0 0 0 0 0.003 54881 chr13 29600415 29600415 A G rs2987346 MTUS2 Nonsynonymous SNV D527G 0.043 0.031 0.048 16 51 12 0.041 14 0 0 0 0 1.093 54882 chr14 23991678 23991678 T A ZFHX2 Synonymous SNV P2404P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.847 54883 chr12 7045892 7045894 CAG - ATN1 Q502del 0.045 0.055 0.014 28 53 21 0.072 4 1 2 0 3 54884 chr3 52883862 52883862 C T rs137874007 STIMATE, STIMATE-MUSTN1 Nonsynonymous SNV V125I 0 0 0 1 0 0 0.003 0 0 0 0 0 26 54885 chr12 6760367 6760367 C T rs76327967 ING4 Synonymous SNV K224K 0.017 0.016 0.017 11 20 6 0.028 5 0 0 0 0 14.46 54886 chr3 52553301 52553301 T G rs201913248 STAB1 Nonsynonymous SNV F1686V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 20.6 54887 chr3 52837989 52837989 G A rs190544531 ITIH3 Nonsynonymous SNV E610K 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 23.2 54888 chr3 52858965 52858965 C T ITIH4 Nonsynonymous SNV G257S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 34 54889 chr2 234725513 234725513 - CA rs558902793 MROH2A Frameshift insertion S983Tfs*9 0.009 0.018 0 6 11 7 0.015 0 0 1 0 0 54890 chr1 152324397 152324397 G A rs79983774 FLG2 Synonymous SNV H1955H 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 0.199 54891 chr1 152325456 152325456 G A rs73007787 FLG2 Synonymous SNV A1602A 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 7.663 54892 chr12 6953100 6953100 T A rs45476395 GNB3 Synonymous SNV R218R 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Benign 6.729 54893 chr1 152326516 152326516 T C rs16833974 FLG2 Nonsynonymous SNV H1249R 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 8.848 54894 chr1 152327405 152327405 A G rs138718549 FLG2 Nonsynonymous SNV S953P 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 10.5 54895 chr3 55922566 55922566 C T ERC2 Synonymous SNV L803L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.45 54896 chr1 152329758 152329758 T A rs61749580 FLG2 Nonsynonymous SNV L168F 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 15.84 54897 chr1 152382436 152382436 C G rs6695830 CRNN Nonsynonymous SNV Q374H 0.004 0.008 0.014 1 5 3 0.003 4 0 0 0 0 17.12 54898 chr1 152383382 152383382 C T rs145120458 CRNN Nonsynonymous SNV R59H 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 15.31 54899 chr3 121415370 121415370 T C rs61730221 GOLGB1 Nonsynonymous SNV T1254A 0.015 0.013 0.024 3 18 5 0.008 7 0 0 0 0 0.001 54900 chr13 33703666 33703666 C G rs34425674 STARD13 Nonsynonymous SNV R375P 0.02 0.018 0.031 4 23 7 0.01 9 0 0 0 0 13.44 54901 chr1 152487917 152487917 G A rs73004856 CRCT1 Nonsynonymous SNV G20S 0.002 0.01 0.01 0 2 4 0 3 0 0 0 0 21.2 54902 chr13 35770025 35770025 C T rs757420837 NBEA Nonsynonymous SNV T1651I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.515 54903 chr13 36396914 36396914 C T rs139958301 DCLK1 Synonymous SNV L195L 0.006 0 0.01 2 7 0 0.005 3 0 0 0 0 Benign 12.08 54904 chr14 24910076 24910076 A T rs11538184 SDR39U1 Nonsynonymous SNV F47I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 24.7 54905 chr12 76425476 76425476 G A rs3747549 PHLDA1 Nonsynonymous SNV P16S 0.054 0.026 0.071 21 63 10 0.054 21 4 1 1 0 10.34 54906 chr1 152733090 152733090 G A rs73016707 KPRP Synonymous SNV R342R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.008 54907 chr13 36909721 36909721 C G SPART Nonsynonymous SNV E83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 54908 chr3 57139894 57139894 G C rs143892890 IL17RD Synonymous SNV T246T 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 7.315 54909 chr1 153004926 153004926 C G rs17880894 SPRR1B Synonymous SNV P35P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 1.024 54910 chr1 153122563 153122563 G A rs115633843 SPRR2G Synonymous SNV C8C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.194 54911 chr3 58133973 58133973 C T rs201723447 FLNB Synonymous SNV A1899A 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 18.38 54912 chr3 58149077 58149077 C G rs201580886 FLNB-AS1 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Likely benign 6.176 54913 chr3 58186727 58186727 C T rs61730077 DNASE1L3 Synonymous SNV A151A 0.009 0.005 0 9 10 2 0.023 0 0 0 0 0 Benign 15.16 54914 chr13 41340992 41340992 T A rs199933450 MRPS31 Nonsynonymous SNV L110F 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 25.1 54915 chr12 80648868 80648868 G A OTOGL Nonsynonymous SNV R488Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 54916 chr12 75804273 75804273 G A rs35066273 GLIPR1L2 Synonymous SNV T98T 0.017 0.023 0.034 18 20 9 0.046 10 0 0 1 1 9.635 54917 chr3 58135716 58135716 C T rs145280904 FLNB Synonymous SNV D2053D 0.025 0.018 0.003 5 29 7 0.013 1 1 0 0 0 Benign/Likely benign 9.721 54918 chr13 42189142 42189142 C T rs73464952 VWA8 Nonsynonymous SNV V1564M 0.008 0 0 1 9 0 0.003 0 0 0 0 0 28.5 54919 chr3 63981657 63981657 C G rs770877170 ATXN7 Nonsynonymous SNV S575C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.19 54920 chr14 21269990 21269990 C G rs142457376 RNASE1 Nonsynonymous SNV V80L 0.009 0.01 0 6 10 4 0.015 0 0 0 0 0 12.1 54921 chr1 154310050 154310050 C T rs372285298 ATP8B2 Nonsynonymous SNV S355F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.389 54922 chr3 66432749 66432749 G A rs142801454 LRIG1 Synonymous SNV T855T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.34 54923 chr1 154459095 154459095 C T rs751242507 SHE Synonymous SNV Q363Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 54924 chr2 241463304 241463304 G A rs139230988 ANKMY1 Synonymous SNV I291I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.635 54925 chr2 241496735 241496735 G A rs144867069 ANKMY1 Synonymous SNV A6A 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 5.634 54926 chr3 66550657 66550657 G T rs541731135 LRIG1 Nonsynonymous SNV L59M 0.002 0 0 0 2 0 0 0 0 0 0 0 25 54927 chr3 69031963 69031963 T C rs35545453 EOGT Nonsynonymous SNV R321G 0.009 0.01 0.01 7 10 4 0.018 3 0 0 0 0 Benign 22.9 54928 chr14 39650824 39650824 C T rs1050136 PNN Synonymous SNV G637G 0.095 0.109 0.126 28 111 42 0.072 37 3 3 1 0 9.59 54929 chr14 39650924 39650924 A G rs13021 PNN Nonsynonymous SNV S671G 0.127 0.138 0.173 39 149 53 0.1 51 8 3 1 0 22 54930 chr3 88205579 88205579 G T rs146014849 C3orf38 Nonsynonymous SNV V262L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.17 54931 chr3 69246129 69246129 A G rs78327349 FRMD4B Synonymous SNV A338A 0.01 0.018 0.007 1 12 7 0.003 2 0 0 0 0 8.647 54932 chr12 83251099 83251099 G A TMTC2 Nonsynonymous SNV A132T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 54933 chr3 127379708 127379708 C T rs114235935 PODXL2 Synonymous SNV F279F 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 13.27 54934 chr13 46801792 46801792 C T rs41284161 LRRC63 Synonymous SNV H77H 0.023 0.036 0.034 21 27 14 0.054 10 1 2 1 1 3.397 54935 chr12 86270455 86270455 C A rs148367587 NTS Nonsynonymous SNV F37L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.325 54936 chr13 46935652 46935652 C T rs139968164 RUBCNL Nonsynonymous SNV R133H 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 20.8 54937 chr13 50589929 50589929 A - rs576707522 KCNRG Y101Tfs*15 0.001 0.003 0 0 1 1 0 0 0 0 0 0 54938 chr3 78655923 78655923 T G rs35148826 ROBO1 Synonymous SNV A1468A 0.015 0.023 0.017 7 18 9 0.018 5 0 0 0 0 0.723 54939 chr3 78735032 78735032 G A rs35506479 ROBO1 Synonymous SNV S366S 0.028 0.026 0.024 6 33 10 0.015 7 1 0 0 0 9.467 54940 chr3 128751762 128751762 A C rs6772392 EFCC1 Synonymous SNV A412A 0.007 0 0.003 0 8 0 0 1 0 0 0 0 0.026 54941 chr3 98503792 98503792 A G rs112115496 ST3GAL6 Nonsynonymous SNV I166M 0.027 0.047 0.065 10 32 18 0.026 19 1 1 1 1 4.731 54942 chr3 98512540 98512540 G A rs28489284 ST3GAL6 Nonsynonymous SNV A167T 0.042 0.07 0.065 10 49 27 0.026 19 1 1 1 1 25.3 54943 chr3 98600385 98600385 T C rs9838238 DCBLD2 Nonsynonymous SNV I144M 0.042 0.07 0.061 10 49 27 0.026 18 1 1 1 1 22.3 54944 chr13 53617309 53617309 C T rs34067666 OLFM4 Stop gain R214X 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 38 54945 chr3 100084432 100084432 G A rs277644 TOMM70 Synonymous SNV Y601Y 0.044 0.057 0.027 34 52 22 0.087 8 5 0 1 0 6.607 54946 chr3 100119548 100119548 T C rs7645509 TOMM70 Synonymous SNV E82E 0.014 0.013 0 10 17 5 0.026 0 1 0 0 0 4.223 54947 chr1 156823934 156823934 G T rs774518493 INSRR Nonsynonymous SNV L83M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 54948 chr14 51489582 51489582 C T rs61755582 TRIM9 Nonsynonymous SNV V338I 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 23.1 54949 chr3 8607307 8607307 C T rs8363 LMCD1 Nonsynonymous SNV R232W 0.022 0.034 0.014 6 26 13 0.015 4 0 0 0 0 24.2 54950 chr1 157062575 157062575 T C rs12126791 ETV3L Nonsynonymous SNV M318V 0.083 0.083 0.065 31 98 32 0.079 19 6 1 0 0 0.001 54951 chr3 105264176 105264176 G T rs34926152 ALCAM Nonsynonymous SNV M367I 0.08 0.081 0.041 36 94 31 0.092 12 0 1 0 2 16.85 54952 chr12 94603406 94603406 G C rs34565975 PLXNC1 Nonsynonymous SNV E494Q 0.017 0.018 0.014 6 20 7 0.015 4 0 0 0 0 Benign 3.138 54953 chr14 24002887 24002887 G T rs3742489 ZFHX2 Nonsynonymous SNV P550T 0.118 0.104 0.153 46 138 40 0.118 45 9 3 2 3 4.641 54954 chr3 9965582 9965582 G A rs75692599 IL17RC Nonsynonymous SNV V174M 0.02 0.016 0.01 12 24 6 0.031 3 1 0 0 0 Benign 23.7 54955 chr12 96437140 96437140 C T rs956655111 LTA4H Nonsynonymous SNV R5K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 54956 chr3 9969994 9969994 C T rs199673084 IL17RC Nonsynonymous SNV R255C 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 Uncertain significance 25.6 54957 chr14 55903716 55903716 C A rs45612333 TBPL2 Nonsynonymous SNV R57S 0.075 0.089 0.085 29 88 34 0.074 25 2 0 2 0 2.817 54958 chr3 111312489 111312489 G A rs149370111 ZBED2 Nonsynonymous SNV A187V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 54959 chr3 10081411 10081411 A G rs34936017 FANCD2 Nonsynonymous SNV T193A 0.013 0.013 0 5 15 5 0.013 0 0 0 0 0 Benign 13.36 54960 chr13 80911729 80911729 C G rs771050581 SPRY2 Nonsynonymous SNV V38L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.32 54961 chr3 111426858 111426858 G A rs149378405 PLCXD2 Synonymous SNV R83R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.795 54962 chr3 111432825 111432825 G A rs146970589 PLCXD2 Nonsynonymous SNV S239N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.01 54963 chr3 111681145 111681145 A T rs712520 PHLDB2 Synonymous SNV P978P 0 0.008 0.02 4 0 3 0.01 6 0 0 1 0 1.369 54964 chr3 111775891 111775891 G A rs115010615 TMPRSS7 Nonsynonymous SNV G282D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 54965 chr14 24898547 24898547 G C rs76835855 KHNYN Nonsynonymous SNV E14Q 0.095 0.07 0.095 32 112 27 0.082 28 4 2 1 0 11.75 54966 chr3 111780741 111780741 C T rs16859132 TMPRSS7 Nonsynonymous SNV A347V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 22.8 54967 chr3 111782404 111782404 G A rs116542268 TMPRSS7 Nonsynonymous SNV G368S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 54968 chr12 9875323 9875323 T C rs118152239 CLECL1 Nonsynonymous SNV T135A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.028 54969 chr3 11064091 11064091 G T rs6344 SLC6A1 Synonymous SNV T39T 0.054 0.057 0.065 25 63 22 0.064 19 2 0 2 0 Benign 10.69 54970 chr3 111799862 111799862 T C rs78489211 TMPRSS7 Synonymous SNV F695F 0.003 0 0 4 3 0 0.01 0 0 0 0 0 1.826 54971 chr13 98645253 98645253 A G rs626716 IPO5 Synonymous SNV L259L 0.049 0.055 0.051 17 57 21 0.044 15 5 1 0 1 10.67 54972 chr1 159170649 159170649 G A rs35256099 CADM3 Synonymous SNV T378T 0.031 0.055 0.044 11 36 21 0.028 13 1 0 1 0 15.97 54973 chr3 111831909 111831909 G C rs111954756 C3orf52 Nonsynonymous SNV G189A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 19.59 54974 chr12 99446977 99446977 C T rs80197475 ANKS1B Synonymous SNV S138S 0.021 0.026 0.041 1 25 10 0.003 12 0 1 0 0 15.17 54975 chr3 12780059 12780059 C T rs34632635 TMEM40 Synonymous SNV G52G 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 13.5 54976 chr3 111845838 111845838 G A rs34566009 GCSAM Synonymous SNV N47N 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.937 54977 chr3 111760812 111760812 G C rs11914332 TMPRSS7 Nonsynonymous SNV R3P 0.05 0.039 0.075 14 59 15 0.036 22 1 0 0 0 33 54978 chr1 159912899 159912899 C T rs3747617 IGSF9 Nonsynonymous SNV G34E 0.069 0.049 0.054 27 81 19 0.069 16 2 0 0 1 32 54979 chr14 100317272 100317272 C T rs34803725 EML1 Synonymous SNV D50D 0.016 0.008 0.017 6 19 3 0.015 5 0 0 0 0 15.79 54980 chr12 9847364 9847364 T C rs150263662 CLEC2D Nonsynonymous SNV I120T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 54981 chr14 60574362 60574362 T G PCNX4 Nonsynonymous SNV S2R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.57 54982 chr3 139279900 139279900 A G rs760406141 NMNAT3 Synonymous SNV S148S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.902 54983 chr14 60574448 60574448 A G rs2296700 PCNX4 Nonsynonymous SNV K31R 0.036 0.044 0.014 16 42 17 0.041 4 1 0 0 0 15.58 54984 chr14 100793702 100793702 G A rs74616664 SLC25A47 Nonsynonymous SNV V108I 0.009 0.005 0.01 0 11 2 0 3 0 0 0 0 20.2 54985 chr3 12877704 12877704 G A rs6497 RPL32 Synonymous SNV I99I 0.017 0.016 0.031 3 20 6 0.008 9 0 0 0 0 15.25 54986 chr12 99007657 99007657 G A rs760314864 IKBIP Synonymous SNV F253F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.99 54987 chr14 100795821 100795821 C T rs148360182 SLC25A47 Nonsynonymous SNV R110W 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 32 54988 chr12 9906179 9906179 G A rs11052883 CD69 Synonymous SNV N166N 0.021 0.034 0.037 9 25 13 0.023 11 0 0 0 1 10.15 54989 chr14 100847437 100847437 A G rs2273801 WDR25 Nonsynonymous SNV K59R 0.03 0.029 0.031 12 35 11 0.031 9 1 0 0 0 0.244 54990 chr12 99548098 99548098 A C rs747472715 ANKS1B Star tloss M58R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 54991 chr14 100847617 100847617 C T rs34331240 WDR25 Nonsynonymous SNV T119M 0.031 0.031 0.031 12 36 12 0.031 9 1 0 0 0 12.35 54992 chr14 32257065 32257065 A C rs11558436 NUBPL Nonsynonymous SNV N15T 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Likely benign 24 54993 chr3 112256630 112256630 A G rs2969896 ATG3 Synonymous SNV Y206Y 0.053 0.031 0.051 13 62 12 0.033 15 3 0 2 0 3.949 54994 chr12 99837570 99837570 C T rs148678454 ANKS1B Nonsynonymous SNV A486T 0.01 0.01 0.02 8 12 4 0.021 6 0 0 0 0 16.18 54995 chr3 112299732 112299732 A G rs2292442 SLC35A5 Synonymous SNV E138E 0.053 0.031 0.054 13 62 12 0.033 16 3 0 2 0 4.909 54996 chr3 112545875 112545875 G A rs61740125 CD200R1L Nonsynonymous SNV T215I 0.017 0.016 0 8 20 6 0.021 0 0 0 0 1 26.2 54997 chr12 9984965 9984965 G A rs146460124 KLRF1 Nonsynonymous SNV V47M 0.014 0.005 0.007 6 17 2 0.015 2 0 0 0 0 0.013 54998 chr3 112989763 112989763 C T rs9819129 BOC Synonymous SNV S213S 0.037 0.049 0.044 13 43 19 0.033 13 0 0 0 0 19.64 54999 chr14 101349726 101349726 A G rs989415398 RTL1 Nonsynonymous SNV I467T 0.005 0 0 0 6 0 0 0 0 0 0 0 9.041 55000 chr14 102471465 102471465 C T rs767537085 DYNC1H1 Synonymous SNV A1775A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.06 55001 chr1 161132821 161132821 C A rs1127525 USP21 Nonsynonymous SNV P365T 0.025 0.044 0.037 12 29 17 0.031 11 0 0 0 1 8.44 55002 chr3 113251875 113251875 G A rs9879313 SIDT1 Nonsynonymous SNV G3S 0.05 0.081 0.068 23 59 31 0.059 20 0 3 1 0 24.3 55003 chr3 112718352 112718352 G T rs1054263 GTPBP8 Nonsynonymous SNV Q209H 0.057 0.023 0.031 17 67 9 0.044 9 1 0 0 0 22.3 55004 chr3 113251935 113251935 G A rs13327031 SIDT1 Nonsynonymous SNV G23R 0.037 0.065 0.051 17 44 25 0.044 15 0 2 0 0 23.2 55005 chr3 112724619 112724619 A G rs7628368 NEPRO Nonsynonymous SNV S323P 0.057 0.023 0.031 17 67 9 0.044 9 1 0 0 0 23.3 55006 chr14 64408852 64408852 G C rs33976862 SYNE2 Synonymous SNV L133L 0.029 0.021 0.051 17 34 8 0.044 15 0 0 0 1 Benign 7.576 55007 chr14 64469828 64469828 C T rs17751301 SYNE2 Nonsynonymous SNV R1393W 0.026 0.016 0.048 17 30 6 0.044 14 0 0 0 1 Benign 10.05 55008 chr14 102807671 102807671 C T rs9464 ZNF839 Nonsynonymous SNV P531S 0.043 0.049 0.051 10 51 19 0.026 15 0 1 0 0 0.663 55009 chr3 112969725 112969725 C A rs80206038 BOC Nonsynonymous SNV H141N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.059 55010 chr14 102808273 102808273 C A rs1053019 ZNF839 Nonsynonymous SNV F731L 0.043 0.049 0.051 10 51 19 0.026 15 0 1 0 0 0.212 55011 chr13 103438652 103438652 C T rs143926182 POGLUT2 Nonsynonymous SNV R474Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 31 55012 chr13 103383312 103383312 G A CCDC168 Nonsynonymous SNV H6579Y 0 0 0 1 0 0 0.003 0 0 0 0 0 15.41 55013 chr14 102825773 102825773 G C rs11544426 CINP Nonsynonymous SNV N53K 0.022 0.018 0.024 10 26 7 0.026 7 0 0 0 0 28.7 55014 chr3 113002475 113002475 G C rs35536878 BOC Nonsynonymous SNV K884N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 23.4 55015 chr3 113376119 113376119 - TGC USF3 Q1478_A1479insQ 0.024 0.044 0 10 28 17 0.026 0 0 0 0 0 55016 chr3 15115374 15115374 C T RBSN Nonsynonymous SNV G757D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 31 55017 chr14 102901023 102901023 G A rs45605932 TECPR2 Synonymous SNV G623G 0.057 0.065 0.061 15 67 25 0.038 18 0 1 0 0 Benign 3.012 55018 chr14 102909991 102909991 C T rs17100923 TECPR2 Synonymous SNV S920S 0.045 0.047 0.051 10 53 18 0.026 15 0 1 0 0 Benign 15.32 55019 chr3 15311232 15311232 G A rs770599854 SH3BP5 Synonymous SNV H4H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.96 55020 chr14 103556122 103556122 G A rs151023840 LBHD2 Synonymous SNV P105P 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.54 55021 chr3 15686776 15686776 T C rs3817641 BTD Synonymous SNV C451C 0.062 0.052 0.051 32 73 20 0.082 15 1 0 0 3 Benign 1.405 55022 chr14 64604595 64604595 G A rs12881815 SYNE2 Nonsynonymous SNV E4913K 0.017 0.008 0.024 7 20 3 0.018 7 0 0 0 0 Benign 25.2 55023 chr3 16242229 16242229 G A rs7638396 GALNT15 Synonymous SNV G270G 0.034 0.042 0.02 21 40 16 0.054 6 0 1 0 1 9.763 55024 chr3 113623020 113623020 G A rs57338076 GRAMD1C Synonymous SNV G25G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.86 55025 chr3 113729787 113729787 G - rs201851070 CCDC191 E394Sfs*3 0.019 0.016 0.017 12 22 6 0.031 5 1 0 0 0 55026 chr1 165322317 165322317 C G rs141657804 LMX1A Nonsynonymous SNV E87Q 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 18.45 55027 chr14 104407788 104407788 A G rs78523783 RD3L Nonsynonymous SNV L82P 0.034 0.029 0.027 8 40 11 0.021 8 0 1 0 0 26.1 55028 chr1 1663958 1663958 G A rs149746326 SLC35E2A Nonsynonymous SNV P246L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.905 55029 chr14 65209970 65209970 G A rs201046500 PLEKHG3 Nonsynonymous SNV R1070Q 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 14.56 55030 chr14 65239316 65239316 G A rs17180252 SPTB Synonymous SNV L1845L 0.038 0.047 0.058 16 45 18 0.041 17 0 0 1 0 Benign/Likely benign 6.121 55031 chr13 103400909 103400909 A T CCDC168 Nonsynonymous SNV M713K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 55032 chr14 65241867 65241867 G A rs4899145 SPTB Synonymous SNV Y1606Y 0.038 0.047 0.065 16 45 18 0.041 19 0 0 1 0 Benign/Likely benign 5.065 55033 chr3 16645993 16645993 C T rs188966680 DAZL Nonsynonymous SNV C6Y 0.014 0.01 0.027 3 16 4 0.008 8 0 0 1 0 0.045 55034 chr3 119373405 119373405 T C rs775903396 POPDC2 Nonsynonymous SNV M183V 0.007 0 0 3 8 0 0.008 0 0 0 0 0 20.9 55035 chr14 65241906 65241906 T C rs4902310 SPTB Synonymous SNV A1593A 0.037 0.047 0.065 16 43 18 0.041 19 0 0 1 0 Benign/Likely benign 0.976 55036 chr14 65241933 65241933 G A rs4902311 SPTB Synonymous SNV N1584N 0.037 0.047 0.065 16 43 18 0.041 19 0 0 1 0 Benign/Likely benign 14.2 55037 chr14 65249066 65249066 C T rs17180350 SPTB Nonsynonymous SNV R1403Q 0.054 0.07 0.082 23 63 27 0.059 24 1 1 1 0 Conflicting interpretations of pathogenicity 20.5 55038 chr3 119421963 119421963 C T rs7612861 MAATS1 Synonymous SNV T6T 0.103 0.115 0.095 39 121 44 0.1 28 7 2 2 2 12.21 55039 chr3 156266774 156266774 C T rs9296 SSR3 Synonymous SNV E93E 0.106 0.13 0.044 37 125 50 0.095 13 6 2 0 2 16.2 55040 chr3 119422106 119422106 C A rs7612954 MAATS1 Nonsynonymous SNV P18T 0.103 0.115 0.126 39 121 44 0.1 37 7 2 2 2 9.349 55041 chr1 167097070 167097070 G A rs61748781 DUSP27 Nonsynonymous SNV R901H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 17.42 55042 chr1 167097544 167097544 G A rs376876805 DUSP27 Nonsynonymous SNV R1059H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.324 55043 chr13 103718308 103718308 C T rs55971546 SLC10A2 Nonsynonymous SNV V98I 0.05 0.039 0.041 12 59 15 0.031 12 3 1 0 0 Benign 20.8 55044 chr3 119301139 119301139 C T rs20568 ADPRH Synonymous SNV G41G 0.057 0.044 0.078 25 67 17 0.064 23 1 0 0 0 16.2 55045 chr1 168054869 168054869 C T rs147976800 GPR161 Nonsynonymous SNV G419D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.244 55046 chr1 168683471 168683471 G A rs78032017 DPT Nonsynonymous SNV P140L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 32 55047 chr13 111294754 111294754 C T rs147216443 CARS2 Nonsynonymous SNV A511T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign/Likely benign 16.53 55048 chr14 105352715 105352715 G A rs62641736 CEP170B Synonymous SNV A643A 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 9.096 55049 chr3 121410988 121410988 C T rs767764931 GOLGB1 Nonsynonymous SNV R2328H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.09 55050 chr14 69520743 69520743 T G rs200458341 DCAF5 Nonsynonymous SNV E886A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 19.73 55051 chr3 121100283 121100283 G A rs17740066 STXBP5L Nonsynonymous SNV V831I 0.086 0.099 0.099 31 101 38 0.079 29 1 4 1 0 24.8 55052 chr3 33155782 33155782 G A rs11558338 CRTAP Synonymous SNV L71L 0.073 0.081 0.088 21 86 31 0.054 26 2 2 0 0 Benign 12.07 55053 chr3 33161898 33161898 C T rs4076086 CRTAP Synonymous SNV D178D 0.069 0.081 0.102 21 81 31 0.054 30 3 2 2 0 Benign 17.77 55054 chr3 33255437 33255437 T C rs745330968 SUSD5 Synonymous SNV L91L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.147 55055 chr3 169496581 169496581 G A MYNN Nonsynonymous SNV A98T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.6 55056 chr13 114060687 114060687 A - rs561234742 LOC101928841 P607Lfs*15 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 55057 chr13 114060690 114060690 C - rs532845932 LOC101928841 N606Ifs*16 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 55058 chr14 105846480 105846480 A G rs782331454 PACS2 Nonsynonymous SNV T372A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.294 55059 chr3 36778776 36778776 T C rs775498135 DCLK3 Nonsynonymous SNV M459V 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 4.839 55060 chr13 113481088 113481088 C T rs144248225 ATP11A Synonymous SNV V368V 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 14.12 55061 chr13 114839279 114839279 G A RASA3 Nonsynonymous SNV P30L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 55062 chr3 38167095 38167095 A G rs2229528 ACAA1 Nonsynonymous SNV V294A 0.032 0.042 0.048 6 37 16 0.015 14 1 2 1 0 29.1 55063 chr13 114525079 114525079 G A rs34975371 GAS6 Synonymous SNV T578T 0.043 0.016 0.037 15 51 6 0.038 11 1 0 0 0 9.94 55064 chr14 58598357 58598357 C T rs45465593 ARMH4 Synonymous SNV V568V 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 13.44 55065 chr1 173915909 173915909 G C rs61741479 RC3H1 Nonsynonymous SNV P935A 0.038 0.055 0.051 11 45 21 0.028 15 2 2 0 0 20.6 55066 chr13 20763234 20763234 T C rs80338949 GJB2 Nonsynonymous SNV M163V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Uncertain significance 14.13 55067 chr3 122128637 122128637 C T rs200828064 FAM162A Nonsynonymous SNV R142C 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 0 25.3 55068 chr13 19748038 19748038 C T rs1803092 TUBA3C Nonsynonymous SNV V440M 0.062 0.052 0.082 16 73 20 0.041 24 7 0 1 1 19.85 55069 chr13 19751229 19751229 T C rs36216108 TUBA3C Synonymous SNV P298P 0.057 0.052 0.082 16 67 20 0.041 24 5 0 1 1 1.645 55070 chr3 123368043 123368043 - G rs200371896 MYLK 0.051 0.042 0.037 22 60 16 0.056 11 1 0 0 1 55071 chr13 19751657 19751657 G T rs9507566 TUBA3C Synonymous SNV R156R 0.056 0.049 0.082 15 66 19 0.038 24 5 0 1 1 3.549 55072 chr1 174517053 174517053 A G RABGAP1L Nonsynonymous SNV T560A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.809 55073 chr3 123376067 123376067 G A rs17298941 MYLK Synonymous SNV H1222H 0.054 0.049 0.041 22 63 19 0.056 12 1 0 0 1 Benign 4.277 55074 chr13 19751694 19751694 A G rs9507567 TUBA3C Synonymous SNV G143G 0.056 0.049 0.082 15 66 19 0.038 24 5 0 1 1 6.278 55075 chr13 19753554 19753554 C T rs36215076 TUBA3C Synonymous SNV T51T 0.056 0.047 0.082 15 66 18 0.038 24 5 0 1 1 15.75 55076 chr13 19753575 19753575 A G rs36215075 TUBA3C Synonymous SNV G44G 0.056 0.047 0.082 15 66 18 0.038 24 5 0 1 1 8.726 55077 chr1 175049405 175049405 C A rs61742080 TNN Synonymous SNV P297P 0.059 0.068 0.065 24 69 26 0.062 19 0 1 0 0 17.81 55078 chr13 21563311 21563311 G A rs77919685 LATS2 Nonsynonymous SNV A203V 0.02 0.01 0.034 13 23 4 0.033 10 0 0 1 0 6.056 55079 chr13 20411939 20411939 T G rs144354836 ZMYM5 Nonsynonymous SNV N299H 0.004 0.003 0.003 6 5 1 0.015 1 0 0 0 0 0.082 55080 chr3 122419083 122419083 C A rs13093808 PARP14 Nonsynonymous SNV A561E 0.081 0.083 0.133 27 95 32 0.069 39 5 2 6 0 18.97 55081 chr3 122459477 122459477 A G rs61732313 HSPBAP1 Synonymous SNV P366P 0.086 0.086 0.129 27 101 33 0.069 38 5 2 5 0 1.564 55082 chr3 122630372 122630372 T C rs61996303 SEMA5B Synonymous SNV P925P 0.027 0.023 0.024 9 32 9 0.023 7 1 0 0 0 8.565 55083 chr1 17604437 17604437 C T rs72646786 MIR3972 0 0 0.126 0 0 0 0 37 0 0 2 0 1.709 55084 chr3 122632436 122632436 A G rs2276781 SEMA5B Nonsynonymous SNV M684T 0.073 0.065 0.071 35 86 25 0.09 21 3 2 1 4 17.56 55085 chr13 23909993 23909993 A G rs34928783 SACS Synonymous SNV F2527F 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.847 55086 chr3 122645304 122645304 G A rs2276776 SEMA5B Synonymous SNV N299N 0.066 0.06 0.041 33 77 23 0.085 12 3 2 0 4 10.31 55087 chr3 122821630 122821630 C G PDIA5 Nonsynonymous SNV A125G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 55088 chr14 77304292 77304292 T C rs4903497 LRRC74A Synonymous SNV S191S 0.135 0.12 0.133 55 159 46 0.141 39 11 2 3 1 0.167 55089 chr13 21732265 21732265 - AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG SKA3 0.015 0.021 0.014 7 18 8 0.018 4 0 0 0 0 55090 chr3 39179859 39179859 T C rs77110687 TTC21A Synonymous SNV H1218H 0.019 0.016 0.014 5 22 6 0.013 4 0 0 0 0 4.129 55091 chr14 20978721 20978721 A G rs79798350 RNASE10 Nonsynonymous SNV T31A 0.03 0.036 0.044 16 35 14 0.041 13 0 0 0 0 0.006 55092 chr3 126132999 126132999 C A rs75744986 CFAP100 Nonsynonymous SNV Q68K 0.023 0.005 0 2 27 2 0.005 0 1 0 0 0 0.978 55093 chr14 20978888 20978888 C G rs75463308 RNASE10 Synonymous SNV L86L 0.027 0.031 0.044 15 32 12 0.038 13 0 0 0 0 2.216 55094 chr14 20979022 20979022 G A rs2067648 RNASE10 Nonsynonymous SNV S131N 0.03 0.036 0.044 16 35 14 0.041 13 0 0 0 0 0.003 55095 chr1 178062359 178062359 G A rs964993 RASAL2-AS1 0 0 0.231 0 0 0 0 68 0 0 7 0 7.505 55096 chr3 124369744 124369744 C T rs12106716 KALRN Synonymous SNV N188N 0.074 0.068 0.065 26 87 26 0.067 19 12 1 1 0 6.83 55097 chr14 61747144 61747144 T C TMEM30B Nonsynonymous SNV N241S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.204 55098 chr1 178514622 178514622 C T rs12568310 C1orf220 0 0 0.439 0 0 0 0 129 0 0 27 0 15.58 55099 chr14 77843361 77843361 G C TMED8 Synonymous SNV S12S 0 0.005 0 0 0 2 0 0 0 1 0 0 10.5 55100 chr13 25453423 25453423 A G rs149693483 RNF17 Synonymous SNV X1620X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.387 55101 chr1 178875917 178875917 C T rs762927733 RALGPS2 Nonsynonymous SNV S520L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 55102 chr3 124418879 124418879 T C rs56047676 KALRN Synonymous SNV Y967Y 0.071 0.063 0.058 31 83 24 0.079 17 7 1 1 1 1.609 55103 chr3 124515496 124515496 C T rs61736433 ITGB5 Nonsynonymous SNV G325R 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 22.6 55104 chr1 18021668 18021668 G T rs147568878 ARHGEF10L Nonsynonymous SNV C770F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 55105 chr13 30054441 30054441 G A rs541276278 MTUS2 Synonymous SNV A92A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.897 55106 chr14 65210089 65210089 G A rs775128910 PLEKHG3 Nonsynonymous SNV G1110R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.242 55107 chr3 188327256 188327256 C T rs146472491 LPP Nonsynonymous SNV S246L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.4 55108 chr3 126160641 126160641 G A rs139202046 ZXDC Synonymous SNV C787C 0.009 0.016 0.01 4 11 6 0.01 3 0 0 0 0 6.639 55109 chr14 65519990 65519990 C T rs34156365 CHURC1-FNTB, FNTB Synonymous SNV F330F 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 16.96 55110 chr13 32912956 32912956 C A rs786203743 BRCA2 Nonsynonymous SNV H1488Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.41 55111 chr1 182545390 182545390 C - rs760148408 RNASEL 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 55112 chr13 33016603 33016603 G T rs34539888 N4BP2L2 Nonsynonymous SNV R676S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.007 55113 chr13 31835149 31835149 G A rs748104539 B3GLCT Nonsynonymous SNV E176K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.3 55114 chr13 33017937 33017937 T A rs35108810 N4BP2L2 Nonsynonymous SNV D231V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.8 55115 chr14 22138385 22138385 A C rs79581521 OR4E1 Nonsynonymous SNV L255R 0.051 0.036 0 15 60 14 0.038 0 1 0 0 1 7.663 55116 chr13 33018088 33018088 T C N4BP2L2 Nonsynonymous SNV I181V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 55117 chr13 33110351 33110351 A G rs34062461 N4BP2L2 Nonsynonymous SNV Y272H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.682 55118 chr13 33110898 33110898 A G rs61733776 N4BP2L2 Synonymous SNV N89N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.17 55119 chr3 126270897 126270897 G A rs145199781 C3orf22 Nonsynonymous SNV T53M 0 0 0 3 0 0 0.008 0 0 0 0 0 0.003 55120 chr14 89205265 89205265 T C rs17188228 EML5 Nonsynonymous SNV I269V 0.136 0.143 0.177 60 160 55 0.154 52 15 3 5 4 13.82 55121 chr14 69347589 69347589 C T rs763573834 ACTN1 Nonsynonymous SNV D691N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.6 55122 chr14 23371268 23371268 A G rs56708790 RBM23 Synonymous SNV A355A 0.053 0.044 0.044 16 62 17 0.041 13 1 1 0 0 2.815 55123 chr14 90650514 90650514 C T rs55730840 KCNK13 Nonsynonymous SNV L132F 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 22.9 55124 chr3 126723549 126723549 C T rs28710010 PLXNA1 Synonymous SNV H538H 0.072 0.07 0.109 27 84 27 0.069 32 4 2 1 3 12.81 55125 chr13 32813873 32813873 A G rs193120945 FRY Nonsynonymous SNV K2181R 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 Likely benign 25.1 55126 chr3 126726705 126726705 A G rs9876615 PLXNA1 Synonymous SNV T687T 0.097 0.089 0.116 38 114 34 0.097 34 5 4 1 3 0.03 55127 chr3 126735453 126735453 C T rs9858521 PLXNA1 Synonymous SNV T1036T 0.072 0.07 0.112 27 84 27 0.069 33 4 2 1 3 15 55128 chr3 130282501 130282501 T C rs141494444 COL6A6 Synonymous SNV F218F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.087 55129 chr3 126741011 126741011 G A rs9289290 PLXNA1 Synonymous SNV T1374T 0.044 0.049 0.054 14 52 19 0.036 16 1 2 0 1 12.25 55130 chr14 90769257 90769257 T C rs778544809 NRDE2 Synonymous SNV K406K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.324 55131 chr14 70038670 70038670 C T rs764554800 CCDC177 Nonsynonymous SNV R557Q 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 26.2 55132 chr13 32906766 32906766 C T rs41293475 BRCA2 Nonsynonymous SNV S384F 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 23.4 55133 chr13 32911741 32911741 T C rs876659029 BRCA2 Synonymous SNV N1083N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 0.004 55134 chr3 127788442 127788442 G A SEC61A1 Synonymous SNV Q456Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.197 55135 chr3 132221139 132221139 C T rs55825559 DNAJC13 Nonsynonymous SNV P1515S 0.037 0.021 0.041 15 43 8 0.038 12 1 0 0 0 21.8 55136 chr1 186057341 186057341 A G rs770099100 HMCN1 Synonymous SNV T3170T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.637 55137 chr3 45999910 45999910 T C rs41289618 FYCO1 Synonymous SNV T1263T 0.05 0.047 0.078 13 59 18 0.033 23 1 2 0 0 Benign 0.073 55138 chr1 186084076 186084076 A T rs149914246 HMCN1 Nonsynonymous SNV H3801L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 55139 chr13 33628089 33628089 T C rs749183356 KL Synonymous SNV G335G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.028 55140 chr14 92174570 92174570 A T rs145585757 CATSPERB Synonymous SNV A127A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 55141 chr1 186158725 186158725 C G rs151256828 HMCN1 Synonymous SNV L5541L 0.007 0.01 0.014 3 8 4 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 12.52 55142 chr13 38320358 38320358 T A TRPC4 Nonsynonymous SNV S205C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 26.8 55143 chr3 133475812 133475812 G A rs1799899 TF Nonsynonymous SNV G150S 0.063 0.06 0.054 35 74 23 0.09 16 0 0 1 1 Benign 24.4 55144 chr14 73412635 73412635 A C rs17856582 DCAF4 Nonsynonymous SNV K132T 0.044 0.052 0.037 30 52 20 0.077 11 0 2 0 1 2.564 55145 chr3 133538590 133538590 T C rs369392814 SRPRB Nonsynonymous SNV W266R 0.004 0 0 0 5 0 0 0 0 0 0 0 28.1 55146 chr14 24527220 24527220 C T rs4982853 CARMIL3 Synonymous SNV Y423Y 0.065 0.031 0.078 31 76 12 0.079 23 1 0 1 1 7.814 55147 chr14 73989389 73989389 G A rs17128375 HEATR4 Synonymous SNV T156T 0.051 0.047 0.037 25 60 18 0.064 11 0 0 0 2 8.837 55148 chr14 24529209 24529209 C T rs61564890 CARMIL3 Synonymous SNV P633P 0.063 0.031 0.075 31 74 12 0.079 22 1 0 1 1 17.28 55149 chr14 24529260 24529260 C T rs58283036 CARMIL3 Synonymous SNV D650D 0.104 0.068 0.119 51 122 26 0.131 35 3 1 2 2 16.9 55150 chr3 46945000 46945000 G A rs77048718 PTH1R Nonsynonymous SNV E546K 0.022 0.031 0.02 8 26 12 0.021 6 1 0 0 0 Benign 17.14 55151 chr13 41134707 41134707 A G rs45624735 FOXO1 Synonymous SNV F307F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.823 55152 chr3 47286320 47286320 T C rs115610071 KIF9 Nonsynonymous SNV K492R 0.018 0.018 0.014 3 21 7 0.008 4 1 0 0 0 8.609 55153 chr14 24653947 24653947 C T rs199521914 IPO4 Synonymous SNV L515L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.2 55154 chr3 195517909 195517909 G T rs729593 MUC4 Nonsynonymous SNV T181K 0.076 0.086 0.095 39 89 33 0.1 28 4 2 2 1 0.859 55155 chr13 42385433 42385433 C T rs149571852 VWA8 Nonsynonymous SNV R664Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 32 55156 chr14 24799164 24799164 G T rs79553843 ADCY4 Nonsynonymous SNV S373R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.6 55157 chr3 48451052 48451052 C T rs769608602 PLXNB1 Nonsynonymous SNV D1956N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 32 55158 chr13 44411421 44411421 C T rs79782223 CCDC122 Nonsynonymous SNV E152K 0.055 0.049 0.068 19 65 19 0.049 20 0 0 0 0 23.5 55159 chr13 45533678 45533678 T C rs147694502 NUFIP1 Nonsynonymous SNV M287V 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 0.016 55160 chr3 48600331 48600331 A T rs780430031 UCN2 Nonsynonymous SNV L76Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26.2 55161 chr3 48716075 48716075 G A rs114786792 NCKIPSD Synonymous SNV A629A 0.038 0.039 0.034 9 45 15 0.023 10 0 1 0 2 12.32 55162 chr13 45970147 45970147 A G rs138358301 SLC25A30 Nonsynonymous SNV F229L 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 25.5 55163 chr13 46115707 46115707 G A rs118131230 ERICH6B Nonsynonymous SNV L661F 0.014 0.013 0.014 2 17 5 0.005 4 0 0 0 0 7.237 55164 chr3 49158763 49158763 C T rs74951356 LAMB2 Nonsynonymous SNV A1765T 0.033 0.031 0.034 10 39 12 0.026 10 0 0 0 2 Benign 18.25 55165 chr14 24976635 24976635 C G rs5246 CMA1 Nonsynonymous SNV G46R 0.013 0.018 0.02 7 15 7 0.018 6 0 0 0 1 Likely benign 10.65 55166 chr3 197482687 197482687 C G rs7624719 FYTTD1 Nonsynonymous SNV P3A 0.014 0.005 0.02 4 17 2 0.01 6 0 0 0 0 1.29 55167 chr3 49693208 49693208 C T rs369339131 BSN Synonymous SNV Y2073Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.642 55168 chr14 96944878 96944878 G A rs76293597 AK7 Synonymous SNV A478A 0.043 0.068 0.027 11 50 26 0.028 8 1 1 0 0 4.579 55169 chr4 289251 289251 G A rs138314261 ZNF732 Nonsynonymous SNV H68Y 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 5.329 55170 chr3 49743010 49743010 C G rs76989089 RNF123 Synonymous SNV P734P 0.045 0.049 0.048 18 53 19 0.046 14 2 0 0 2 14.13 55171 chr3 49840843 49840843 T C rs115355405 INKA1 Synonymous SNV L6L 0.034 0.034 0.031 13 40 13 0.033 9 2 0 0 0 7.124 55172 chr4 466410 466410 C T rs375997978 ABCA11P 0.054 0.055 0.014 27 63 21 0.069 4 0 0 0 0 3.163 55173 chr3 148599344 148599344 C G rs78356818 CPA3 Synonymous SNV T204T 0.009 0.003 0 0 10 1 0 0 0 0 0 0 Benign 10.38 55174 chr4 466424 466424 C A rs782416410 ABCA11P 0.041 0.049 0.01 19 48 19 0.049 3 0 0 0 0 6.743 55175 chr13 46946488 46946488 T C rs778010754 RUBCNL Synonymous SNV Q41Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 55176 chr4 466427 466427 G T rs782671201 ABCA11P 0.037 0.049 0.01 16 44 19 0.041 3 0 0 0 0 0.695 55177 chr4 466434 466434 G A rs782195844 ABCA11P 0.034 0.042 0.003 16 40 16 0.041 1 0 0 0 0 2.458 55178 chr14 31782394 31782394 G A rs61754286 HEATR5A Synonymous SNV V1407V 0.015 0.008 0.014 10 18 3 0.026 4 0 0 0 0 5.7 55179 chr13 47279258 47279258 G T rs11617392 LRCH1 Nonsynonymous SNV A486S 0.011 0.016 0.003 4 13 6 0.01 1 0 0 0 0 12.87 55180 chr3 50326883 50326883 A G rs78165652 IFRD2 Synonymous SNV L322L 0.02 0.021 0.027 3 23 8 0.008 8 0 0 0 0 3.378 55181 chr13 49281554 49281554 A G rs41347648 CYSLTR2 Nonsynonymous SNV M201V 0.028 0.031 0.044 20 33 12 0.051 13 0 0 0 1 Uncertain significance 4.498 55182 chr14 81259254 81259254 A T rs45535733 CEP128 Synonymous SNV A470A 0.06 0.055 0.058 18 70 21 0.046 17 4 2 1 1 0.044 55183 chr13 50129660 50129660 G C rs139714193 RCBTB1 Nonsynonymous SNV D198E 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 Likely benign 19.89 55184 chr3 138176419 138176419 G A rs150550932 ESYT3 Nonsynonymous SNV V172I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 2.491 55185 chr13 50205029 50205029 G A rs34301344 ARL11 Stop gain W149X 0.029 0.018 0.017 8 34 7 0.021 5 0 0 0 0 Benign 36 55186 chr13 50237255 50237255 G A rs34505073 EBPL Synonymous SNV V106V 0.003 0.003 0.017 1 3 1 0.003 5 0 0 0 0 13.25 55187 chr13 52313195 52313195 C T rs1885854 WDFY2 Synonymous SNV T203T 0.096 0.117 0.126 39 113 45 0.1 37 6 4 2 1 14.79 55188 chr13 52372020 52372020 C A rs370315872 DHRS12 Nonsynonymous SNV R72L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.9 55189 chr13 50587140 50587140 G C rs1056543 TRIM13 Nonsynonymous SNV S355T 0.021 0.016 0.02 11 25 6 0.028 6 0 0 0 0 0.006 55190 chr13 52520575 52520575 G A rs774028495 ATP7B Nonsynonymous SNV R762W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 27.9 55191 chr15 101791605 101791605 G A rs7175303 CHSY1 Synonymous SNV G19G 0.09 0.07 0 40 106 27 0.103 0 26 3 0 10 Benign 11.95 55192 chr15 102226241 102226241 T G rs201848828 TARS3 Nonsynonymous SNV T449P 0 0.005 0 0 0 2 0 0 0 0 0 0 22.7 55193 chr15 23086364 23086364 - GCC rs549007670 NIPA1 A16_G17insA 0.003 0.005 0 6 3 2 0.015 0 0 0 0 1 55194 chr14 90528797 90528797 G A rs7157583 KCNK13 Nonsynonymous SNV R83Q 0.037 0.034 0.017 9 44 13 0.023 5 0 0 1 0 19.84 55195 chr4 1729887 1729887 G T rs139849008 TACC3 Nonsynonymous SNV G253V 0.013 0.016 0.003 4 15 6 0.01 1 0 0 0 0 6.241 55196 chr1 201437832 201437832 C T rs35383942 PHLDA3 Nonsynonymous SNV R28Q 0.024 0.049 0.058 15 28 19 0.038 17 0 1 0 0 26 55197 chr1 201489286 201489286 C G rs4310467 RPS10P7 0 0 0.327 0 0 0 0 96 0 0 12 0 7.226 55198 chr3 52475283 52475283 G A rs148318432 SEMA3G Synonymous SNV C270C 0.006 0.008 0 0 7 3 0 0 0 0 0 0 4.245 55199 chr1 201618264 201618264 C T rs1267119 NAV1 Synonymous SNV G156G 0.047 0.052 0.068 19 55 20 0.049 20 1 0 0 1 14.56 55200 chr13 53418940 53418940 T C rs201885126 PCDH8 Nonsynonymous SNV S990G 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 25 55201 chr3 155481454 155481454 G T rs201584610 C3orf33 Nonsynonymous SNV T246K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.008 55202 chr4 1957848 1957848 G A rs62287053 NSD2 Synonymous SNV P938P 0.009 0.005 0.014 3 10 2 0.008 4 0 0 0 0 Likely benign 12.51 55203 chr3 155571433 155571433 G C SLC33A1 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.873 55204 chr3 155571434 155571434 G C SLC33A1 Nonsynonymous SNV P118R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 55205 chr13 61103155 61103155 G A rs147499826 TDRD3 Nonsynonymous SNV R599Q 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 24.8 55206 chr3 147128352 147128352 C G rs151126720 ZIC1 Synonymous SNV A151A 0.014 0.008 0.007 8 16 3 0.021 2 0 0 0 0 Benign 13.37 55207 chr3 157178135 157178135 G A rs551368277 VEPH1 Stop gain R122X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 36 55208 chr4 2460955 2460955 G A rs80041146 CFAP99 Synonymous SNV T475T 0.102 0.068 0.054 32 120 26 0.082 16 5 1 0 1 9.855 55209 chr3 52860889 52860889 T C ITIH4 Nonsynonymous SNV Y146C 0.006 0.008 0 0 7 3 0 0 0 0 0 0 27 55210 chr4 2746567 2746567 C T rs116412781 TNIP2 Nonsynonymous SNV E148K 0.057 0.039 0.017 22 67 15 0.056 5 3 0 0 0 25.4 55211 chr14 92258796 92258796 A G rs148609061 TC2N Nonsynonymous SNV I321T 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 25.7 55212 chr3 149619941 149619941 T C rs148516101 RNF13 Synonymous SNV Y45Y 0.02 0.021 0 17 23 8 0.044 0 0 0 0 0 1.454 55213 chr3 160155862 160155865 AGAT - rs543903709 TRIM59 S370Ffs*12 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 55214 chr3 160818950 160818950 G A rs189375137 B3GALNT1 Stop gain R62X 0.003 0 0 3 4 0 0.008 0 0 0 0 0 3.024 55215 chr3 53322206 53322206 C T rs782496513 DCP1A Synonymous SNV S356S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.83 55216 chr15 31295151 31295151 T G rs17227996 TRPM1 Nonsynonymous SNV N1268T 0.037 0.029 0.051 24 44 11 0.062 15 1 0 2 1 Benign/Likely benign 8.042 55217 chr15 31329944 31329944 G A rs12911350 TRPM1 Synonymous SNV N864N 0.147 0.115 0.146 57 173 44 0.146 43 10 1 2 5 Benign 3.543 55218 chr1 203025583 203025583 G A rs61748818 PPFIA4 Synonymous SNV T729T 0.093 0.091 0.105 29 109 35 0.074 31 1 0 1 0 13.31 55219 chr3 151056174 151056174 A G rs62283053 P2RY12 Synonymous SNV L154L 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Benign 0.55 55220 chr4 3117828 3117828 C T rs199509618 HTT Synonymous SNV V302V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 11.16 55221 chr1 203452873 203452873 G A rs531394874 PRELP Synonymous SNV P187P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.745 55222 chr3 54905639 54905639 G A rs776470130 CACNA2D3 Nonsynonymous SNV R567Q 0.006 0.003 0 0 7 1 0 0 0 0 0 0 22.7 55223 chr15 31619607 31619607 G A rs11537749 KLF13 Synonymous SNV V64V 0.062 0.052 0.184 48 73 20 0.123 54 23 9 12 15 11.19 55224 chr3 56114861 56114861 T C rs12488237 ERC2 Nonsynonymous SNV N542S 0.036 0.034 0.037 9 42 13 0.023 11 0 0 0 0 23.8 55225 chr3 151164174 151164174 A C rs16863403 IGSF10 Nonsynonymous SNV S1199A 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 0.028 55226 chr15 31776837 31776837 C G rs76704217 OTUD7A Nonsynonymous SNV V481L 0.011 0.031 0.01 15 13 12 0.038 3 0 2 0 0 17.03 55227 chr13 99630104 99630104 C T rs147408595 DOCK9 Synonymous SNV E20E 0.013 0.029 0.007 6 15 11 0.015 2 0 0 0 0 14.78 55228 chr13 99907141 99907141 T A rs202154292 GPR18 Nonsynonymous SNV E329V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.33 55229 chr4 3494847 3494847 G A rs6831659 DOK7 Synonymous SNV A68A 0.16 0.172 0.112 47 188 66 0.121 33 11 5 2 1 Benign 6.265 55230 chr15 33842400 33842400 A T rs41279202 RYR3 Synonymous SNV R285R 0.033 0.016 0.044 4 39 6 0.01 13 0 0 1 0 Benign 4.219 55231 chr13 99907350 99907350 C G rs143074994 GPR18 Synonymous SNV T259T 0.008 0.008 0 6 9 3 0.015 0 0 0 0 0 2.064 55232 chr1 205180578 205180578 C T rs200780796 DSTYK Nonsynonymous SNV R29Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign/Likely benign 24.3 55233 chr1 205277831 205277831 C T rs746380943 NUAK2 Nonsynonymous SNV V128I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 55234 chr13 99554548 99554548 C T rs75205686 DOCK9 Synonymous SNV P459P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 12.1 55235 chr14 53010267 53010267 G A rs146639994 TXNDC16 Synonymous SNV S3S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 4.212 55236 chr14 52509063 52509063 G A rs17831525 NID2 Nonsynonymous SNV P529S 0.014 0.026 0.017 12 17 10 0.031 5 0 0 0 0 26.9 55237 chr14 100070030 100070030 G A rs78667152 CCDC85C Synonymous SNV C89C 0.021 0.023 0.017 9 25 9 0.023 5 0 0 0 0 10.53 55238 chr14 102493523 102493523 A G rs149753029 DYNC1H1 Synonymous SNV Q2928Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 13.91 55239 chr3 164905688 164905688 G A rs17449404 SLITRK3 Synonymous SNV F977F 0.055 0.047 0.088 17 64 18 0.044 26 2 0 2 0 4.492 55240 chr3 58834906 58834906 G C rs144641115 C3orf67 Nonsynonymous SNV T553S 0.018 0.013 0.007 3 21 5 0.008 2 0 0 0 0 5.272 55241 chr14 95660242 95660242 A G rs1128468 CLMN Synonymous SNV Y928Y 0.122 0.117 0.109 44 143 45 0.113 32 8 3 0 2 0.133 55242 chr15 40628857 40628857 C T rs138396559 CCDC9B Nonsynonymous SNV G313R 0.003 0.005 0.017 5 4 2 0.013 5 0 0 0 0 27.5 55243 chr3 180328027 180328027 C G rs34873940 TTC14 Synonymous SNV T670T 0.061 0.089 0.082 20 72 34 0.051 24 1 2 2 0 1.839 55244 chr4 6302816 6302816 C G rs35031397 WFS1 Nonsynonymous SNV L432V 0.013 0.008 0.01 10 15 3 0.026 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 55245 chr3 64133182 64133182 G A rs34460293 PRICKLE2 Synonymous SNV N328N 0.078 0.057 0.078 31 92 22 0.079 23 2 1 0 0 Likely benign 3.927 55246 chr3 167322205 167322205 G T rs549363512 WDR49 Nonsynonymous SNV T337K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.516 55247 chr14 58048142 58048142 A G rs61746391 SLC35F4 Synonymous SNV S198S 0.059 0.068 0.037 23 69 26 0.059 11 4 4 0 2 9.751 55248 chr14 96730718 96730718 G A rs33925361 BDKRB1 Synonymous SNV E233E 0.089 0.086 0.048 28 105 33 0.072 14 4 2 0 3 0.057 55249 chr14 103447257 103447257 A G rs34750098 CDC42BPB Synonymous SNV N331N 0.009 0.016 0 7 11 6 0.018 0 0 0 0 1 Benign 9.653 55250 chr3 183752964 183752964 A C rs77099580 HTR3D, HTR3D Synonymous SNV R80R 0.018 0.018 0.02 6 21 7 0.015 6 1 0 1 0 0.009 55251 chr3 183754278 183754278 C G rs73183412 HTR3D Nonsynonymous SNV P31A 0.072 0.099 0.095 46 84 38 0.118 28 4 0 2 2 15.59 55252 chr3 171431726 171431726 C G rs142070781 PLD1 Nonsynonymous SNV E290Q 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Likely benign 23.9 55253 chr1 20991238 20991238 G A KIF17 Nonsynonymous SNV P976S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 55254 chr15 100252703 100252703 G A rs3730059 MEF2A Synonymous SNV S339S 0.048 0.055 0.02 15 56 21 0.038 6 1 0 0 1 2.449 55255 chr15 100252713 100252715 CAG - MEF2A Q352del 0.033 0.029 0 13 39 11 0.033 0 0 0 0 0 55256 chr1 210024735 210024735 G A rs11589904 UTP25 Synonymous SNV A738A 0.015 0.01 0.017 4 18 4 0.01 5 1 0 0 0 10.15 55257 chr14 60433392 60433392 C T rs35533709 LRRC9 Nonsynonymous SNV R433C 0.02 0.01 0.02 7 24 4 0.018 6 1 0 0 0 34 55258 chr3 183908982 183908982 C T rs11706273 ABCF3 Nonsynonymous SNV P497L 0.076 0.068 0.041 26 89 26 0.067 12 2 0 1 0 23.2 55259 chr1 210407031 210407031 G T rs624706 SERTAD4-AS1 0 0 0.398 0 0 0 0 117 0 0 20 0 6.996 55260 chr3 69928477 69928477 C T rs767050369 MITF Synonymous SNV N47N 0.009 0.008 0 0 10 3 0 0 0 0 0 0 13.81 55261 chr15 41819663 41819665 TTC - rs772873764 RPAP1 E523del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 55262 chr14 104473128 104473128 G A rs35030451 TDRD9 Synonymous SNV V651V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 11.98 55263 chr3 89468528 89468530 GTT - rs780931092 EPHA3 V689del 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 55264 chr3 184049385 184049385 C T rs112718796 EIF4G1 Synonymous SNV D1267D 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 13.45 55265 chr3 182583338 182583338 T A rs111933747 ATP11B Nonsynonymous SNV I432N 0.035 0.029 0.02 20 41 11 0.051 6 1 0 0 2 22.6 55266 chr14 104642489 104642489 G T rs117573425 KIF26A Nonsynonymous SNV A1122S 0.032 0.031 0.024 30 38 12 0.077 7 1 0 1 0 0.003 55267 chr14 63447926 63447926 C T rs961145593 KCNH5 Synonymous SNV T202T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.6 55268 chr14 64066326 64066326 C T rs201238690 WDR89 Nonsynonymous SNV G112D 0.013 0.021 0 8 15 8 0.021 0 0 0 0 0 22.3 55269 chr14 64066328 64066328 C T rs766626787 WDR89 Synonymous SNV K111K 0.02 0.023 0 11 24 9 0.028 0 0 0 0 0 11.85 55270 chr3 185236964 185236964 G A rs144288709 LIPH Synonymous SNV C284C 0.063 0.06 0.048 30 74 23 0.077 14 3 0 0 0 5.702 55271 chr14 64066424 64066424 T C rs200323309 WDR89 Synonymous SNV A79A 0.04 0.068 0 23 47 26 0.059 0 0 0 0 0 0.148 55272 chr14 64066431 64066431 C T rs75569502 WDR89 Nonsynonymous SNV R77K 0.029 0.055 0 18 34 21 0.046 0 0 0 0 0 0.002 55273 chr15 42235316 42235316 C T rs11549015 EHD4 Nonsynonymous SNV V154I 0.141 0.146 0.136 62 166 56 0.159 40 16 4 4 4 15.88 55274 chr14 105461050 105461050 C T rs34350817 CLBA1 Nonsynonymous SNV T311I 0.018 0.016 0.031 9 21 6 0.023 9 0 0 0 0 7.294 55275 chr14 65054966 65054966 C T rs116953714 PPP1R36 Synonymous SNV A345A 0.05 0.044 0.031 18 59 17 0.046 9 5 0 0 0 12.58 55276 chr15 24922680 24922680 A G rs145986160 NPAP1 Nonsynonymous SNV T556A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.15 55277 chr15 26812780 26812780 C T rs76812964 GABRB3 Synonymous SNV S176S 0.03 0.036 0.02 12 35 14 0.031 6 1 1 0 0 Benign 8.148 55278 chr14 105931154 105931154 G A rs80078427 MTA1 Synonymous SNV A496A 0.017 0.013 0.003 3 20 5 0.008 1 0 0 0 0 6.417 55279 chr14 67589080 67589080 T C rs77465022 GPHN Synonymous SNV G545G 0.011 0.003 0.003 7 13 1 0.018 1 0 0 0 0 Benign 5.292 55280 chr14 105459395 105459395 G A rs763587137 CLBA1 Synonymous SNV Q270Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 55281 chr1 221509335 221509335 A C rs72746037 C1orf140 0 0 0.218 0 0 0 0 64 0 0 8 0 6.154 55282 chr14 68220861 68220861 G A rs151166497 ZFYVE26 Nonsynonymous SNV T2352I 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 55283 chr15 43502557 43502557 G A rs756167313 EPB42 Synonymous SNV H240H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 55284 chr14 68250112 68250112 G A rs34296097 ZFYVE26 Synonymous SNV L1253L 0.018 0.026 0.01 14 21 10 0.036 3 0 0 0 0 Benign 1.692 55285 chr1 22183824 22183824 A G rs1031570794 HSPG2 Nonsynonymous SNV V1784A 0 0 0.003 0 0 0 0 1 0 0 0 0 26 55286 chr3 108719436 108719436 C G rs35276036 MORC1 Nonsynonymous SNV D719H 0.013 0.026 0.014 8 15 10 0.021 4 0 0 0 0 10.27 55287 chr14 64989274 64989274 A T ZBTB1 Nonsynonymous SNV D351V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 55288 chr14 69727121 69727121 G A rs150774678 GALNT16 Synonymous SNV R38R 0.068 0.078 0.102 32 80 30 0.082 30 3 2 3 1 18.06 55289 chr14 70039442 70039442 C T rs112597196 CCDC177 Nonsynonymous SNV G300S 0.014 0.021 0.02 7 16 8 0.018 6 0 0 0 0 16.69 55290 chr3 111342667 111342667 A T rs148659928 CD96 Nonsynonymous SNV Q416L 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Likely benign 16.92 55291 chr3 193052806 193052806 A G rs149585597 ATP13A5 Synonymous SNV Y342Y 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.818 55292 chr14 20824184 20824184 G A rs748750325 PARP2 Synonymous SNV E365E 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 5.12 55293 chr14 71201179 71201179 C G rs45600331 MAP3K9 Synonymous SNV S369S 0.033 0.016 0.024 11 39 6 0.028 7 0 0 0 0 17.03 55294 chr14 71201192 71201192 T C rs34322726 MAP3K9 Nonsynonymous SNV Y365C 0.033 0.016 0.024 11 39 6 0.028 7 0 0 0 0 14.52 55295 chr15 45412333 45412333 T C rs146181954 DUOXA1 Nonsynonymous SNV H202R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.458 55296 chr14 72169130 72169130 T C rs79937396 SIPA1L1 Nonsynonymous SNV I1185T 0.039 0.042 0.024 13 46 16 0.033 7 0 0 1 0 11.52 55297 chr14 69006916 69006916 G A rs55670604 RAD51B 0.01 0.01 0 3 12 4 0.008 0 1 1 0 1 11.34 55298 chr3 194061810 194061810 C A rs150510546 CPN2 Nonsynonymous SNV R541L 0.025 0.026 0.007 2 29 10 0.005 2 0 0 0 0 0.06 55299 chr3 190347247 190347247 C A rs148996090 IL1RAP Synonymous SNV A337A 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 Benign 17.72 55300 chr1 224606057 224606057 C T rs770848836 WDR26 Synonymous SNV A292A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 55301 chr15 38233913 38233913 T C rs138530451 TMCO5A Synonymous SNV D162D 0.015 0.008 0.014 1 18 3 0.003 4 0 0 0 0 2.126 55302 chr1 225268106 225268106 C A rs115366080 DNAH14 Nonsynonymous SNV A931D 0.056 0.036 0.054 17 66 14 0.044 16 3 0 1 0 Benign 10.78 55303 chr3 112647783 112647783 T C rs34985808 CD200R1 Nonsynonymous SNV S194G 0.02 0.013 0.014 4 24 5 0.01 4 0 0 0 0 0.001 55304 chr1 225340420 225340420 C G rs188496398 DNAH14 Synonymous SNV L1677L 0.012 0.003 0.01 3 14 1 0.008 3 0 0 0 0 Benign 9.426 55305 chr1 225458508 225458508 A G rs200968726 DNAH14 Synonymous SNV K2537K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 9.394 55306 chr14 21463050 21463050 G C rs2297717 METTL17 Nonsynonymous SNV G289A 0.014 0.013 0.014 2 16 5 0.005 4 0 0 0 0 0.727 55307 chr15 50769520 50769520 G A rs61733869 USP8 Nonsynonymous SNV A271T 0.023 0.026 0.034 9 27 10 0.023 10 0 0 0 0 Benign 0.015 55308 chr14 74727367 74727367 G A rs62006815 VSX2 Synonymous SNV L277L 0.03 0.039 0.024 10 35 15 0.026 7 0 0 0 0 Benign/Likely benign 8.831 55309 chr3 113046640 113046640 A G rs13064411 CFAP44 Synonymous SNV D1381D 0.135 0.117 0.143 39 159 45 0.1 42 17 4 2 2 7.226 55310 chr14 75230555 75230555 G A rs200074627 YLPM1 Synonymous SNV Q121Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 2.542 55311 chr3 113115543 113115543 C G rs77501585 CFAP44 Nonsynonymous SNV G534A 0.022 0.029 0.007 5 26 11 0.013 2 0 0 0 1 23.7 55312 chr1 226027659 226027659 C T rs2292568 EPHX1 Synonymous SNV P284P 0.053 0.047 0.034 15 62 18 0.038 10 1 0 0 0 12.73 55313 chr1 226033030 226033030 G C rs4149230 EPHX1 Synonymous SNV S450S 0.052 0.047 0.034 15 61 18 0.038 10 1 0 0 0 3.606 55314 chr1 226034774 226034774 C T rs2292559 TMEM63A Synonymous SNV T797T 0.053 0.047 0.034 15 62 18 0.038 10 1 0 0 0 12.9 55315 chr14 74970041 74970041 A G rs139932140 LTBP2 Nonsynonymous SNV V1590A 0.012 0.016 0.007 2 14 6 0.005 2 1 0 0 0 Benign 23.8 55316 chr1 226041438 226041438 C T rs2292556 TMEM63A Synonymous SNV S563S 0.053 0.047 0.034 15 62 18 0.038 10 1 0 0 0 16.77 55317 chr1 226046974 226046974 T C rs2292561 TMEM63A Synonymous SNV L433L 0.054 0.047 0.034 15 63 18 0.038 10 1 0 0 0 11.17 55318 chr4 39064365 39064365 A G rs150673156 KLHL5 Synonymous SNV T77T 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 0.004 55319 chr15 52505467 52505467 C T rs75728881 MYO5C Synonymous SNV S1353S 0.01 0.01 0.01 4 12 4 0.01 3 0 0 0 0 13.47 55320 chr15 52527951 52527951 T C rs55753304 MYO5C Nonsynonymous SNV K960E 0.022 0.023 0.01 11 26 9 0.028 3 0 0 0 0 12.84 55321 chr14 22133899 22133899 C G rs117936299 OR4E2 Synonymous SNV T201T 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 1.558 55322 chr15 41062922 41062922 C T rs115347345 C15orf62 Synonymous SNV L77L 0.035 0.031 0.037 15 41 12 0.038 11 0 0 0 0 11.44 55323 chr15 41224382 41224382 G A rs61757617 DLL4 Synonymous SNV S224S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 16.56 55324 chr15 41384310 41384310 T C rs145473172 INO80 Nonsynonymous SNV N151S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.002 55325 chr15 52672051 52672051 G C rs111806567 MYO5A Synonymous SNV T689T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 8.785 55326 chr14 23239694 23239694 A C rs35143092 OXA1L Nonsynonymous SNV I232L 0.01 0.013 0.024 5 12 5 0.013 7 0 0 0 0 13.16 55327 chr14 76905777 76905777 C A rs35544003 ESRRB Synonymous SNV I27I 0.05 0.047 0.037 15 59 18 0.038 11 0 2 2 1 Benign 19.94 55328 chr15 41797171 41797171 G A rs201289718 LTK Nonsynonymous SNV R543W 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 32 55329 chr3 197241286 197241286 G C rs35089738 BDH1 Synonymous SNV G137G 0.092 0.068 0.109 30 108 26 0.077 32 4 2 4 0 7.541 55330 chr3 119256020 119256020 G A rs2229098 CD80 Nonsynonymous SNV H222Y 0.017 0.01 0.007 11 20 4 0.028 2 2 0 0 0 Benign 11.93 55331 chr15 54542456 54542456 C T rs34909598 UNC13C Synonymous SNV L1088L 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 11.37 55332 chr14 77493810 77493815 TGCTGT - rs745897352 IRF2BPL Q126_Q127del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 55333 chr15 41859715 41859715 C T rs144221692 TYRO3 Nonsynonymous SNV P269L 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 20.8 55334 chr3 195594872 195594872 C T rs200430444 TNK2 Nonsynonymous SNV R783H 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 19.99 55335 chr4 438084 438084 C T rs192147896 ZNF721 Nonsynonymous SNV V58M 0.012 0.013 0.01 1 14 5 0.003 3 0 0 0 0 18.94 55336 chr3 195597000 195597000 G C rs199636920 TNK2 Nonsynonymous SNV L534V 0.009 0.016 0.017 8 10 6 0.021 5 0 0 0 0 16.3 55337 chr4 41748008 41748028 GCCGCCGCCGCCGCTGCCGCG - rs780971967 PHOX2B A254_A260del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 55338 chr1 228391591 228391591 G C rs12022917 OBSCN-AS1 0 0 0.391 0 0 0 0 115 0 0 17 0 0.341 55339 chr3 120952486 120952486 G A rs61996323 STXBP5L Nonsynonymous SNV V379M 0.017 0.013 0.02 3 20 5 0.008 6 0 1 0 0 Uncertain significance 28.6 55340 chr15 42034872 42034872 C T MGA Nonsynonymous SNV P1572S 0.008 0.005 0 2 9 2 0.005 0 1 0 0 0 26.2 55341 chr4 675772 675772 A G rs139852524 MYL5, SLC49A3 Nonsynonymous SNV K171E 0.004 0.008 0 6 5 3 0.015 0 0 0 0 0 24.4 55342 chr15 56207723 56207723 T C rs777790906 NEDD4 Nonsynonymous SNV N436S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 55343 chr3 196051088 196051089 TC - rs147354585 TM4SF19-AS1 0.058 0.081 0.078 36 68 31 0.092 23 0 0 0 0 55344 chr14 23549256 23549256 C T rs749891515 ACIN1 Nonsynonymous SNV A448T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.9 55345 chr4 995537 995537 C A IDUA Synonymous SNV G88G 0.003 0 0 0 4 0 0 0 0 0 0 0 5.661 55346 chr14 77950765 77950765 C T rs190117570 ISM2 Synonymous SNV T176T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 10.9 55347 chr1 22924201 22924201 C T rs746416885 EPHA8 Nonsynonymous SNV R655W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 55348 chr3 196674290 196674290 C G rs746647462 PIGZ Nonsynonymous SNV W493S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.005 55349 chr4 47589203 47589203 G A rs1316874 ATP10D Synonymous SNV T1307T 0.099 0.091 0.068 26 116 35 0.067 20 4 3 1 1 10.28 55350 chr3 121500720 121500720 G A rs138646990 IQCB1 Nonsynonymous SNV A294V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 2.011 55351 chr1 230810756 230810756 T A rs6681346 COG2 Nonsynonymous SNV N304K 0.026 0.016 0.037 9 30 6 0.023 11 0 0 0 0 Benign 15.49 55352 chr3 196743239 196743239 C T rs140428837 MELTF Nonsynonymous SNV R301H 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 22.7 55353 chr4 47945295 47945295 C T rs28642966 CNGA1 Nonsynonymous SNV D187N 0.11 0.086 0.041 31 129 33 0.079 12 7 1 1 2 Benign 13.91 55354 chr1 231403582 231403582 T C rs143205045 GNPAT Synonymous SNV A343A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.485 55355 chr14 81743617 81743617 C T rs35650607 STON2 Nonsynonymous SNV V680M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 55356 chr14 23891481 23891481 C T rs45540831 MYH7 Synonymous SNV A1051A 0.02 0.013 0.007 5 23 5 0.013 2 0 0 0 0 Benign 16.02 55357 chr1 231954427 231954427 C T rs1535530 TSNAX-DISC1 0 0 0.568 0 0 0 0 167 0 0 48 0 10.48 55358 chr14 81744602 81744602 C T STON2 Synonymous SNV T351T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.301 55359 chr15 60748900 60748900 T C rs774816183 ICE2 Nonsynonymous SNV R71G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 55360 chr15 43641232 43641232 G A rs118163361 ADAL Nonsynonymous SNV R254Q 0.009 0.003 0 1 10 1 0.003 0 1 0 0 0 12.06 55361 chr15 43730543 43730543 T C rs758395248 TP53BP1 Nonsynonymous SNV D1057G 0.009 0.003 0 1 10 1 0.003 0 1 0 0 0 1.504 55362 chr14 23993874 23993874 C A ZFHX2 Nonsynonymous SNV E1759D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.6 55363 chr15 62265675 62265675 T C rs149417696 VPS13C Synonymous SNV L822L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Likely benign 5.662 55364 chr3 122296638 122296638 G A rs1875272 PARP15 Nonsynonymous SNV V42M 0.17 0.135 0.109 61 200 52 0.156 32 23 0 2 1 10.2 55365 chr15 62283239 62283239 C T rs201047478 VPS13C Nonsynonymous SNV G470D 0 0.003 0 0 0 1 0 0 0 0 0 0 32 55366 chr14 23994895 23994895 C A ZFHX2 Nonsynonymous SNV G1419V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 55367 chr4 1720312 1720312 G T rs798752 TMEM129 Nonsynonymous SNV L83I 0.038 0.023 0.027 19 45 9 0.049 8 1 0 0 0 0.423 55368 chr1 233498026 233498026 C T rs56052041 MAP3K21 Synonymous SNV I513I 0.022 0.023 0.01 10 26 9 0.026 3 1 0 0 0 14.92 55369 chr4 1729765 1729800 CAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG - rs745892211 TACC3 K225_C236del 0.039 0.023 0.034 19 46 9 0.049 10 1 0 0 0 55370 chr1 2340212 2340212 G A rs1143016 PEX10 Synonymous SNV G93G 0.046 0.042 0.048 14 54 16 0.036 14 3 0 0 0 Benign/Likely benign 10.19 55371 chr14 88477968 88477968 A G rs1046028021 GPR65 Synonymous SNV E259E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.005 55372 chr14 89181432 89181432 A G EML5 Nonsynonymous SNV V432A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 55373 chr4 1730254 1730254 A G rs798758 TACC3 Synonymous SNV Q375Q 0.04 0.023 0.034 19 47 9 0.049 10 1 0 0 0 0.011 55374 chr15 63089545 63089545 G A rs762232623 TLN2 Nonsynonymous SNV A2060T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 55375 chr4 983014 983014 G C rs36069160 SLC26A1 Synonymous SNV A571A 0.023 0.021 0.024 19 27 8 0.049 7 0 0 0 1 0.008 55376 chr14 24569423 24569423 G T rs138881435 PCK2, PCK2 Nonsynonymous SNV G412V 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Uncertain significance 25.1 55377 chr15 63908647 63908647 G A rs76465062 HERC1 Synonymous SNV T4641T 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Benign 14.32 55378 chr3 122869147 122869147 G C rs114278681 PDIA5 Synonymous SNV V403V 0.013 0.008 0.003 2 15 3 0.005 1 1 0 0 0 10.99 55379 chr14 89206861 89206861 G A rs139652502 EML5 Nonsynonymous SNV T194M 0.007 0.003 0.003 10 8 1 0.026 1 0 0 0 0 Benign 22.8 55380 chr15 64204147 64204147 G A rs200773863 DAPK2 Nonsynonymous SNV S331L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 55381 chr14 24802187 24802187 G C rs151010600 ADCY4 Nonsynonymous SNV T56S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.63 55382 chr15 45968402 45968402 G A rs182326393 SQOR Nonsynonymous SNV R253Q 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 35 55383 chr15 48441554 48441554 T C rs36075490 MYEF2 Nonsynonymous SNV S441G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 18.93 55384 chr14 91700681 91700681 C G rs139914562 GPR68 Synonymous SNV L238L 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 6.305 55385 chr14 92159558 92159558 A G rs72629402 CATSPERB Nonsynonymous SNV V248A 0.054 0.049 0.034 17 63 19 0.044 10 1 0 0 1 15.37 55386 chr14 24878370 24878370 C T rs12437434 NYNRIN Nonsynonymous SNV T457M 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 2.06 55387 chr4 3015553 3015553 G A rs1140085 GRK4 Nonsynonymous SNV V53I 0.049 0.036 0.058 14 57 14 0.036 17 3 0 0 0 23 55388 chr15 65321938 65321938 A G rs2946655 MTFMT Nonsynonymous SNV V5A 0.026 0.021 0.007 9 31 8 0.023 2 0 0 0 1 Benign 0.041 55389 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQ 0.009 0.031 0 2 10 12 0.005 0 0 2 0 0 55390 chr1 236717022 236717022 C T rs147173215 HEATR1 Synonymous SNV G2032G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.63 55391 chr14 92530690 92530690 C A rs1037710267 ATXN3 Nonsynonymous SNV D233Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.28 55392 chr15 65447288 65447288 A G rs145651001 CLPX Synonymous SNV H481H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.739 55393 chr4 1643064 1643064 G A rs765267471 FAM53A Nonsynonymous SNV R385W 0.003 0.008 0 6 3 3 0.015 0 0 0 0 1 22.3 55394 chr4 3443769 3443769 C T rs150750289 HGFAC Nonsynonymous SNV P14L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.001 55395 chr1 236737999 236737999 C T rs139477120 HEATR1 Nonsynonymous SNV A1097T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 55396 chr15 65917349 65917349 G C rs34363823 SLC24A1 Nonsynonymous SNV V311L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 0.083 55397 chr14 93398031 93398031 G C rs9658655 CHGA Nonsynonymous SNV E264D 0.054 0.031 0.061 36 63 12 0.092 18 2 1 0 2 14.17 55398 chr15 66220799 66220799 C T rs137866207 MEGF11 Nonsynonymous SNV V547I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.96 55399 chr4 4861703 4861703 G C rs567549350 MSX1 Nonsynonymous SNV G26A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.397 55400 chr1 236758923 236758923 C T rs148138589 HEATR1 Nonsynonymous SNV G336E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.886 55401 chr15 52186051 52186051 A G rs139938664 TMOD3 Nonsynonymous SNV E179G 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 30 55402 chr4 5624614 5624614 G A rs144584049 EVC2 Synonymous SNV H637H 0.014 0.008 0.01 4 16 3 0.01 3 0 0 0 0 Benign/Likely benign 0.014 55403 chr14 31647343 31647343 C T rs117846831 HECTD1 Synonymous SNV A86A 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 16.73 55404 chr1 236907966 236907966 G A rs35956798 ACTN2 Synonymous SNV A432A 0.028 0.01 0.027 7 33 4 0.018 8 1 0 0 1 Benign/Likely benign 7.334 55405 chr3 125775321 125775321 G C rs58595496 SLC41A3 Synonymous SNV T25T 0.023 0.023 0.014 9 27 9 0.023 4 1 0 0 0 6.936 55406 chr3 125786852 125786852 C T rs11543283 SLC41A3 Nonsynonymous SNV V71M 0.023 0.023 0.017 11 27 9 0.028 5 1 0 0 0 9.822 55407 chr3 126139000 126139000 G A rs59283185 CFAP100 Nonsynonymous SNV R337Q 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.649 55408 chr1 238090514 238090514 T A rs545540 LOC100130331 0 0 0.228 0 0 0 0 67 0 0 12 0 7.085 55409 chr1 23845623 23845623 G A rs145585855 E2F2 0 0 0.007 0 0 0 0 2 0 0 0 0 26 55410 chr14 33069942 33069942 G A rs34572259 AKAP6 Nonsynonymous SNV E892K 0.022 0.031 0.024 10 26 12 0.026 7 1 0 1 0 Benign 23.2 55411 chr4 5961228 5961228 G A rs777642048 C4orf50 Synonymous SNV V1288V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.643 55412 chr1 24078962 24078962 A C rs114897920 ELOA Synonymous SNV P523P 0.021 0.021 0.02 3 25 8 0.008 6 1 0 0 0 1.416 55413 chr14 35782253 35782253 A G rs4665 PSMA6 Synonymous SNV E113E 0.057 0.055 0.075 18 67 21 0.046 22 2 1 0 1 9.638 55414 chr15 69238392 69238392 T C rs3743092 SPESP1 Synonymous SNV Y173Y 0.005 0.008 0.027 3 6 3 0.008 8 0 0 0 0 0.002 55415 chr15 69325606 69325606 A C rs150003957 NOX5 Nonsynonymous SNV S254R 0.009 0.005 0.027 3 11 2 0.008 8 0 0 0 0 23.9 55416 chr14 34931378 34931378 C T rs371299315 SPTSSA Synonymous SNV Q12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 55417 chr14 94931131 94931131 G A rs779655716 SERPINA9 Synonymous SNV I241I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.76 55418 chr3 128707607 128707607 T C rs73865525 KIAA1257 Synonymous SNV P27P 0.012 0.013 0 0 14 5 0 0 0 0 0 0 0.025 55419 chr14 35264033 35264033 G A rs145022216 BAZ1A Synonymous SNV L429L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 11.14 55420 chr14 35783656 35783656 A G rs13393 PSMA6 Synonymous SNV K147K 0.034 0.036 0.044 11 40 14 0.028 13 0 0 1 0 8.473 55421 chr4 6302889 6302889 G A rs1801208 WFS1 Nonsynonymous SNV R456H 0.052 0.073 0.041 24 61 28 0.062 12 2 0 1 1 Benign/Likely benign 23.8 55422 chr3 129130087 129130087 C T rs75410160 EFCAB12 Nonsynonymous SNV D317N 0.009 0.008 0 0 10 3 0 0 0 0 0 0 8.242 55423 chr15 70979983 70979983 G A rs575135370 UACA Synonymous SNV D153D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 55424 chr4 3444503 3444503 G A rs2073505 HGFAC Synonymous SNV A54A 0.141 0.128 0.126 54 165 49 0.138 37 9 3 4 2 9.742 55425 chr15 71184308 71184308 C T THAP10 Nonsynonymous SNV E102K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.796 55426 chr4 6610889 6610889 G A rs61733402 MAN2B2 Nonsynonymous SNV G573R 0.074 0.052 0.041 21 87 20 0.054 12 1 0 0 0 23.5 55427 chr4 3449652 3449652 G A rs16844401 HGFAC Nonsynonymous SNV R509H 0.112 0.099 0.078 53 131 38 0.136 23 5 4 1 3 25 55428 chr15 72170400 72170400 G A rs148435644 MYO9A Nonsynonymous SNV S1971L 0.034 0.039 0.037 19 40 15 0.049 11 0 0 0 2 18.95 55429 chr15 57565432 57565432 C T rs77034126 TCF12 Synonymous SNV V390V 0.021 0.023 0.01 13 25 9 0.033 3 1 0 0 0 Benign 14.19 55430 chr15 72190760 72190760 A G rs55738821 MYO9A Nonsynonymous SNV S1362P 0.04 0.042 0.041 19 47 16 0.049 12 0 0 0 2 0.096 55431 chr4 5016883 5016883 G A rs11722554 CYTL1 Nonsynonymous SNV R136C 0.036 0.049 0.027 8 42 19 0.021 8 4 0 0 0 23.5 55432 chr14 44974267 44974267 C T rs8009274 FSCB Nonsynonymous SNV A642T 0.004 0.005 0.007 6 5 2 0.015 2 0 0 0 0 4.444 55433 chr14 96829302 96829302 C T rs72706804 ATG2B Synonymous SNV P4P 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 18.41 55434 chr4 5021021 5021021 G A rs35755546 CYTL1 Nonsynonymous SNV S51L 0.047 0.031 0.017 11 55 12 0.028 5 3 0 0 0 3.931 55435 chr14 99865252 99865252 A T rs369683209 SETD3 Nonsynonymous SNV S517T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 55436 chr1 245850296 245850296 C T rs114792430 KIF26B Synonymous SNV P1337P 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Benign 8.966 55437 chr15 73562532 73562532 C T rs2680348 NEO1 Synonymous SNV T892T 0.055 0.063 0.071 20 64 24 0.051 21 3 0 1 1 12.14 55438 chr14 50074502 50074502 A G rs61754305 LRR1 Nonsynonymous SNV T223A 0.011 0 0.017 2 13 0 0.005 5 0 0 0 0 6.07 55439 chr1 24669464 24669464 C T rs114678222 GRHL3 Synonymous SNV P410P 0.02 0.026 0.027 15 24 10 0.038 8 0 0 0 1 Benign 12.95 55440 chr4 5754579 5754579 C T rs28483498 EVC Nonsynonymous SNV T372M 0.05 0.047 0.051 28 59 18 0.072 15 1 0 0 1 Benign 23.5 55441 chr3 130098565 130098565 C T rs76775308 COL6A5 Synonymous SNV D324D 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 6.616 55442 chr15 74219903 74219903 - GCC rs776481735 LOXL1 P267_D268insP 0.003 0.01 0.007 0 3 4 0 2 0 0 0 0 55443 chr14 50074787 50074787 C T LRR1 Stop gain Q318X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 55444 chr15 59359102 59359102 A G rs151224376 RNF111 Synonymous SNV T502T 0.009 0.021 0.014 4 10 8 0.01 4 0 0 0 0 0.072 55445 chr3 130114082 130114082 C G rs1353613 COL6A5 Nonsynonymous SNV I1114M 0.014 0.013 0.01 3 16 5 0.008 3 0 0 0 0 17.64 55446 chr15 75093389 75093389 C T rs2229730 CSK Synonymous SNV G253G 0.049 0.078 0.068 21 57 30 0.054 20 1 2 1 1 19.59 55447 chr15 75108636 75108636 G A rs3803568 LMAN1L Nonsynonymous SNV R105Q 0.048 0.078 0.058 21 56 30 0.054 17 1 2 1 1 22.7 55448 chr15 75113083 75113083 A G rs1531163 LMAN1L Synonymous SNV K294K 0.053 0.086 0.071 24 62 33 0.062 21 1 2 1 1 0.526 55449 chr15 100821479 100821479 G A rs140918730 ADAMTS17 Synonymous SNV H248H 0.01 0 0 1 12 0 0.003 0 0 0 0 0 10.71 55450 chr14 45650718 45650718 C T FANCM Synonymous SNV N1410N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.92 55451 chr15 101606082 101606082 G A rs35787282 LRRK1 Nonsynonymous SNV A1814T 0.008 0.013 0.007 10 9 5 0.026 2 0 0 0 1 18.55 55452 chr4 8584303 8584303 C T rs35460303 GPR78 Synonymous SNV R238R 0.011 0.005 0.014 10 13 2 0.026 4 0 0 0 0 10.19 55453 chr15 101606006 101606006 C T rs370640930 LRRK1 Synonymous SNV P1788P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.206 55454 chr14 50929434 50929434 G C rs560808619 MAP4K5 Nonsynonymous SNV N295K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.69 55455 chr15 101717888 101717888 C T rs62621399 CHSY1 Nonsynonymous SNV R705Q 0.112 0.154 0.139 50 132 59 0.128 41 8 3 2 5 20.2 55456 chr15 63889934 63889934 G C rs8035931 FBXL22 Nonsynonymous SNV V115L 0.111 0.125 0.116 54 130 48 0.138 34 6 4 2 6 27.5 55457 chr4 8869850 8869852 TCT - HMX1 K205del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 55458 chr15 63918307 63918307 G C rs1140422 HERC1 Synonymous SNV P4384P 0.1 0.083 0.092 37 117 32 0.095 27 4 0 1 1 5.527 55459 chr15 77134137 77134137 G A rs777282101 SCAPER Nonsynonymous SNV R111C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 55460 chr15 77325246 77325246 G A rs200796501 PSTPIP1 Synonymous SNV P294P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 6.723 55461 chr4 10099381 10099381 G A rs182603736 WDR1 Nonsynonymous SNV A171V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.14 55462 chr15 63950887 63950887 G A rs2228513 HERC1 Nonsynonymous SNV S3152F 0.058 0.078 0.058 32 68 30 0.082 17 5 2 0 2 27.2 55463 chr15 78401620 78401620 C T rs77370542 CIB2 Synonymous SNV S52S 0.017 0.023 0.02 6 20 9 0.015 6 0 0 0 0 Benign 21.4 55464 chr15 64452322 64452322 G A rs2307247 PPIB Synonymous SNV T108T 0.031 0.052 0.054 14 36 20 0.036 16 0 0 0 0 Benign 10.79 55465 chr4 15005076 15005076 C A rs537061668 CPEB2 Nonsynonymous SNV P260Q 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 21.4 55466 chr4 7435996 7435996 A G rs61741341 PSAPL1 Nonsynonymous SNV L204S 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 13.4 55467 chr4 15516389 15516389 C T rs2286976 CC2D2A Synonymous SNV H259H 0.036 0.044 0.051 22 42 17 0.056 15 1 1 0 1 Benign/Likely benign 9.977 55468 chr4 7436432 7436432 C T rs56737582 PSAPL1 Nonsynonymous SNV A59T 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 17.1 55469 chr14 52495481 52495481 C T rs7144523 NID2 Nonsynonymous SNV R830Q 0.002 0.003 0.02 4 2 1 0.01 6 0 0 0 0 22.5 55470 chr4 15709252 15709252 G A rs2302464 BST1 Nonsynonymous SNV R145Q 0.042 0.042 0.051 19 49 16 0.049 15 1 0 0 2 25.9 55471 chr4 84230033 84230033 C T rs139839221 HPSE Synonymous SNV A294A 0.03 0.026 0.041 21 35 10 0.054 12 1 0 0 0 21 55472 chr4 15713446 15713446 C T rs2302463 BST1 Synonymous SNV S156S 0.042 0.047 0.051 20 49 18 0.051 15 1 0 0 2 12 55473 chr4 15733454 15733454 A C rs1058212 BST1 Synonymous SNV R315R 0.036 0.036 0.061 23 42 14 0.059 18 1 0 0 2 0.01 55474 chr3 134090265 134090265 A G rs762146817 AMOTL2 Nonsynonymous SNV L62P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.3 55475 chr14 52535553 52535553 C T NID2 Nonsynonymous SNV E54K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 55476 chr15 78921762 78921762 G A rs3743072 CHRNB4 Synonymous SNV I295I 0.003 0.008 0.02 4 3 3 0.01 6 0 0 0 0 6.098 55477 chr15 29429347 29429347 G A rs61741714 FAM189A1 Synonymous SNV H227H 0.049 0.034 0.051 24 58 13 0.062 15 1 1 1 0 2.875 55478 chr15 78922229 78922229 T C rs56218866 CHRNB4 Nonsynonymous SNV S140G 0.003 0.008 0.017 4 3 3 0.01 5 0 0 0 0 15.83 55479 chr4 15964574 15964574 C T rs62617788 FGFBP2 Nonsynonymous SNV R60H 0.02 0.021 0.024 7 23 8 0.018 7 0 1 0 0 17.56 55480 chr4 85617141 85617141 G A rs143808972 WDFY3 Synonymous SNV F2961F 0.004 0.008 0.003 6 5 3 0.015 1 0 0 0 0 12.48 55481 chr4 17503433 17503433 C T rs3733570 QDPR Synonymous SNV S84S 0.037 0.029 0.048 8 44 11 0.021 14 1 0 0 0 Benign 10.4 55482 chr14 52981664 52981664 G C rs117463339 TXNDC16 Nonsynonymous SNV A175G 0.028 0.031 0.014 10 33 12 0.026 4 2 0 0 0 28.5 55483 chr15 79296193 79296193 G A rs111385391 RASGRF1 Synonymous SNV G32G 0.009 0.021 0.01 1 10 8 0.003 3 0 0 0 0 Benign 6.094 55484 chr4 17660051 17660051 G A rs2302392 FAM184B Synonymous SNV H653H 0.008 0.018 0.017 2 9 7 0.005 5 1 0 0 0 2.448 55485 chr3 135720572 135720572 G A rs145130777 PPP2R3A Nonsynonymous SNV G78R 0.02 0.029 0.01 4 23 11 0.01 3 0 1 0 0 23.5 55486 chr15 31294343 31294343 A T rs12898290 TRPM1 Nonsynonymous SNV H1537Q 0.061 0.081 0.075 33 72 31 0.085 22 2 2 0 1 Benign 0.001 55487 chr15 31294714 31294714 C A rs3784589 TRPM1 Stop gain E1414X 0.061 0.081 0.071 33 72 31 0.085 21 2 2 0 1 Benign 36 55488 chr15 31352749 31352749 G T rs141540242 TRPM1 Nonsynonymous SNV P438T 0.023 0.005 0.01 5 27 2 0.013 3 0 0 0 0 Benign 26.6 55489 chr14 57046769 57046769 C T TMEM260 Nonsynonymous SNV P46L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 55490 chr15 31727654 31727654 G A rs76241746 KLF13 Nonsynonymous SNV R220H 0.018 0.016 0 6 21 6 0.015 0 0 0 0 0 7.936 55491 chr15 31362148 31362148 C G rs138133192 TRPM1 Nonsynonymous SNV G100A 0.024 0.005 0.01 5 28 2 0.013 3 0 0 0 0 6.635 55492 chr4 25315754 25315754 G C rs144236014 ZCCHC4 Nonsynonymous SNV D72H 0.03 0.031 0.017 10 35 12 0.026 5 0 0 0 0 28.5 55493 chr4 89053780 89053780 T C rs148475733 ABCG2 Nonsynonymous SNV M71V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23 55494 chr4 25669530 25669530 T C rs77319279 SLC34A2 Synonymous SNV I183I 0.034 0.023 0.048 26 40 9 0.067 14 0 1 1 1 Benign 11.44 55495 chr15 83718867 83718867 T C rs115033616 BTBD1 Nonsynonymous SNV M208V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.267 55496 chr4 30725696 30725696 G A rs1047012 PCDH7 Synonymous SNV V884V 0.111 0.083 0.109 52 130 32 0.133 32 6 4 2 5 2.536 55497 chr4 30725987 30725987 G A rs977931 PCDH7 Synonymous SNV R981R 0.113 0.083 0.112 52 133 32 0.133 33 7 4 2 5 0.245 55498 chr15 84324543 84324543 G A rs759088864 ADAMTSL3 Synonymous SNV V10V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.14 55499 chr3 138191246 138191246 A G rs61361298 ESYT3 Synonymous SNV T594T 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 1.568 55500 chr15 33446503 33446503 A C rs530336921 FMN1 Nonsynonymous SNV S205A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.228 55501 chr4 91230579 91230579 G A rs12647859 CCSER1 Nonsynonymous SNV G382S 0.086 0.076 0.112 34 101 29 0.087 33 2 1 2 0 9.214 55502 chr3 138347957 138347957 G A rs641320 FAIM Nonsynonymous SNV A117T 0.072 0.063 0.071 22 84 24 0.056 21 5 0 2 0 17.79 55503 chr3 138347968 138347968 A G rs61753268 FAIM Synonymous SNV V120V 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 11.59 55504 chr3 138347988 138347988 T C rs13043 FAIM Nonsynonymous SNV L127S 0.019 0.018 0.02 6 22 7 0.015 6 0 0 1 0 22.7 55505 chr3 139077081 139077081 C T rs141832843 COPB2 Synonymous SNV P862P 0.007 0.003 0 0 8 1 0 0 0 0 0 0 18.07 55506 chr1 248550977 248550977 G T rs114783918 OR2T6 Nonsynonymous SNV C23F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.003 55507 chr1 248551194 248551194 C T rs6693133 OR2T6 Synonymous SNV I95I 0.015 0.003 0.003 3 18 1 0.008 1 2 0 0 0 8.117 55508 chr15 68628163 68628163 C T rs2306022 ITGA11 Nonsynonymous SNV V433M 0.059 0.039 0.051 21 69 15 0.054 15 1 1 0 1 23 55509 chr14 57858203 57858203 G A rs147403736 NAA30 Synonymous SNV E176E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.629 55510 chr15 34647812 34647812 C T rs78073896 NUTM1 Nonsynonymous SNV R525W 0.021 0.01 0.031 5 25 4 0.013 9 0 0 0 0 19.43 55511 chr15 85504762 85504762 A T rs112431612 SLC28A1 Synonymous SNV R529R 0.059 0.057 0.041 14 69 22 0.036 12 2 2 1 0 0.083 55512 chr1 248569843 248569843 C T rs115710461 OR2T1 Nonsynonymous SNV P183L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.5 55513 chr4 38799539 38799539 T A rs3923647 TLR1 Nonsynonymous SNV H305L 0.042 0.039 0.044 22 49 15 0.056 13 0 0 0 1 21.1 55514 chr4 10566361 10566361 C T rs368333254 CLNK Synonymous SNV P111P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.6 55515 chr14 58047905 58047905 C T rs117786916 SLC35F4 Synonymous SNV A275A 0.011 0.01 0.01 11 13 4 0.028 3 0 0 1 0 8.432 55516 chr14 58563642 58563642 T C rs140057603 ARMH4 Nonsynonymous SNV D630G 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 22.8 55517 chr15 69548196 69548196 C T rs150155724 GLCE Synonymous SNV C17C 0.023 0.042 0.01 10 27 16 0.026 3 0 1 0 0 12.75 55518 chr4 38800339 38800339 G A rs5743610 TLR1 Synonymous SNV H38H 0.049 0.039 0.041 23 57 15 0.059 12 0 0 0 0 2.048 55519 chr15 86123462 86123462 T C rs745192 AKAP13 Synonymous SNV P721P 0.056 0.026 0.085 19 66 10 0.049 25 3 1 1 1 0.117 55520 chr14 58909435 58909435 T C rs61735931 KIAA0586 Star tloss M1? 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign/Likely benign 12.75 55521 chr4 38893435 38893435 A G FAM114A1 Nonsynonymous SNV S15G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.027 55522 chr14 61180336 61180336 C T rs112624131 SIX4 Nonsynonymous SNV R712H 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 23.6 55523 chr15 40328597 40328605 TGCTGCTGC - rs377432895 SRP14 A114_A116del 0.003 0.013 0.003 3 4 5 0.008 1 0 0 0 1 55524 chr3 146234853 146234853 C T rs61737861 PLSCR1 Synonymous SNV Q199Q 0.06 0.068 0.068 23 70 26 0.059 20 4 2 0 0 13.61 55525 chr14 61448049 61448049 C G rs17097938 SLC38A6 Synonymous SNV V18V 0.039 0.031 0.024 12 46 12 0.031 7 0 0 0 0 13.25 55526 chr15 40564566 40564566 C T rs143993282 BUB1B-PAK6, PAK6 Nonsynonymous SNV R334C 0.005 0.013 0.007 5 6 5 0.013 2 0 0 0 0 24 55527 chr4 16008270 16008270 C T rs200620291 PROM1 Nonsynonymous SNV V440M 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 55528 chr15 40630073 40630073 G A rs78494549 CCDC9B Nonsynonymous SNV R223W 0.079 0.076 0.061 41 93 29 0.105 18 3 0 0 1 23.1 55529 chr4 17625256 17625256 G A MED28 Synonymous SNV R124R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.15 55530 chr3 148727114 148727115 AT - GYG1 I179Qfs*9 0.006 0.003 0 0 7 1 0 0 0 0 0 0 55531 chr15 40648396 40648396 T C rs371153968 PHGR1 Synonymous SNV P47P 0.07 0.036 0.088 30 82 14 0.077 26 15 1 4 3 0.002 55532 chr15 40660038 40660038 G A rs75662097 DISP2 Synonymous SNV S575S 0.006 0.016 0 4 7 6 0.01 0 0 0 0 0 4.352 55533 chr15 40648397 40648397 G C rs374256648 PHGR1 Nonsynonymous SNV G48R 0.069 0.034 0.088 29 81 13 0.074 26 15 1 4 3 1.423 55534 chr15 40648398 40648398 G A rs759512760 PHGR1 Nonsynonymous SNV G48D 0.069 0.034 0.085 28 81 13 0.072 25 15 1 4 3 5.93 55535 chr15 40648405 40648405 C T rs9707826 PHGR1 Synonymous SNV G50G 0.049 0.021 0.088 19 57 8 0.049 26 15 1 4 3 4.203 55536 chr4 39510264 39510264 A G rs1129052 UGDH Synonymous SNV C209C 0.118 0.141 0.139 51 138 54 0.131 41 9 4 6 5 6.412 55537 chr4 39515736 39515736 A G rs10019532 UGDH Synonymous SNV D77D 0.117 0.154 0.095 53 137 59 0.136 28 8 4 5 5 9.227 55538 chr14 60194375 60194375 C G rs1132362 RTN1 Nonsynonymous SNV A343P 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 21.7 55539 chr15 87531283 87531283 A G rs114992033 AGBL1 Nonsynonymous SNV N1096S 0.011 0.01 0.014 8 13 4 0.021 4 0 0 0 0 0.511 55540 chr15 40661496 40661496 C T rs758121804 DISP2 Synonymous SNV C1061C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.22 55541 chr15 88799174 88799174 T C rs200923715 NTRK3 Nonsynonymous SNV I71V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 0.318 55542 chr3 150690490 150690490 T G rs111033422 CLRN1 Synonymous SNV P2P 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Benign 6.621 55543 chr15 74623630 74623630 C A rs137878325 CCDC33 Synonymous SNV P181P 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 7.569 55544 chr15 74625077 74625077 C T rs77396610 CCDC33 Nonsynonymous SNV P203L 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 Likely benign 26.9 55545 chr14 60976137 60976137 G A rs61746410 SIX6 Synonymous SNV L7L 0.02 0.01 0.017 7 23 4 0.018 5 0 0 0 0 Likely benign 9.162 55546 chr1 27215578 27215578 T G rs767953675 GPN2 Synonymous SNV T150T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.797 55547 chr15 89417149 89417149 C T rs190361551 ACAN Synonymous SNV S2470S 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 Benign 9.429 55548 chr15 89421350 89421350 C T rs565658414 HAPLN3 Nonsynonymous SNV D312N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 55549 chr15 75640168 75640168 A C rs909952235 NEIL1 Nonsynonymous SNV K13Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.85 55550 chr15 89430544 89430544 G A rs62620238 HAPLN3 Nonsynonymous SNV P58S 0.049 0.063 0.048 29 57 24 0.074 14 0 1 0 0 7.726 55551 chr1 27699671 27699671 G - rs532781899 FCN3 L106Sfs*65 0.033 0.031 0.027 20 39 12 0.051 8 1 0 0 0 55552 chr15 41803754 41803754 G A rs55739813 LTK Nonsynonymous SNV P227L 0.035 0.057 0.041 19 41 22 0.049 12 1 0 1 0 26.1 55553 chr3 155200563 155200563 G T rs1816522 PLCH1 Synonymous SNV P1084P 0.032 0.044 0.044 15 38 17 0.038 13 2 0 1 1 2.975 55554 chr15 89803950 89803950 C T rs62020347 FANCI Nonsynonymous SNV P55L 0.05 0.078 0.061 31 59 30 0.079 18 3 0 1 0 Benign 33 55555 chr15 41822163 41822163 C T rs61753586 RPAP1 Nonsynonymous SNV V320M 0.036 0.06 0.061 21 42 23 0.054 18 1 0 1 0 7.177 55556 chr15 89876827 89876827 - TGC rs41550117 POLG Q55_P56insQ 0.099 0.141 0.088 51 116 54 0.131 26 7 3 2 2 55557 chr14 64519861 64519861 C T rs200742016 SYNE2 Nonsynonymous SNV P3077L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 55558 chr14 67671482 67671482 - T rs151256654 FAM71D Frameshift insertion T197Yfs*30 0.029 0.039 0.037 14 34 15 0.036 11 0 0 0 1 55559 chr14 67671483 67671483 A C rs56352800 FAM71D Nonsynonymous SNV T197P 0.029 0.039 0.037 14 34 15 0.036 11 0 0 0 1 23.3 55560 chr1 29379679 29379679 G A rs138888144 EPB41 Nonsynonymous SNV G532D 0.005 0.005 0.01 7 6 2 0.018 3 0 0 0 0 24.2 55561 chr14 67671485 67671485 A T rs55981040 FAM71D Synonymous SNV T197T 0.029 0.039 0.037 14 34 15 0.036 11 0 0 0 1 0.001 55562 chr14 67790463 67790463 C A rs775657615 MPP5 Synonymous SNV I561I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 55563 chr3 158450080 158450080 T C rs7621322 RARRES1 Nonsynonymous SNV D42G 0.111 0.096 0.133 47 130 37 0.121 39 20 5 8 4 6.146 55564 chr15 42160721 42160721 C T SPTBN5 Nonsynonymous SNV G1978S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.015 55565 chr14 64692063 64692063 G A rs759174521 SYNE2 Nonsynonymous SNV R370H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.3 55566 chr4 111434683 111434683 T C rs138193515 ENPEP Nonsynonymous SNV F474S 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 29.9 55567 chr15 42179621 42179621 G A rs768818543 SPTBN5 Synonymous SNV Y226Y 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 0.211 55568 chr14 67759282 67759282 C A rs61744208 MPP5 Nonsynonymous SNV S107Y 0.03 0.034 0.037 20 35 13 0.051 11 1 0 1 0 27 55569 chr15 42182365 42182365 G A rs772371519 SPTBN5 Synonymous SNV D141D 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 9.156 55570 chr4 113539391 113539391 A G rs78381215 ZGRF1 Nonsynonymous SNV F603L 0.009 0.013 0.017 6 11 5 0.015 5 0 0 0 0 11.24 55571 chr1 32659687 32659687 C T rs750164552 TXLNA Synonymous SNV L425L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 55572 chr1 32682947 32682947 T C rs79700000 TMEM234 Nonsynonymous SNV T81A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 22.6 55573 chr1 32936427 32936427 T C rs895080901 ZBTB8B Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.245 55574 chr15 80847565 80847565 T C rs575434441 LOC101929586 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.522 55575 chr14 68043180 68043180 G A rs45515191 PLEKHH1 Synonymous SNV E807E 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 12.49 55576 chr15 82444663 82444663 T C rs2292071 EFL1 Nonsynonymous SNV K660R 0.087 0.065 0.068 27 102 25 0.069 20 2 1 0 1 9.176 55577 chr1 33944908 33944908 T C rs770808630 ZSCAN20 Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.133 55578 chr15 42386638 42386638 C A rs144471740 PLA2G4D Nonsynonymous SNV G7V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 9.104 55579 chr15 82456227 82456227 T C rs1128431 EFL1 Nonsynonymous SNV I566V 0.093 0.065 0.068 28 109 25 0.072 20 4 1 0 1 26.1 55580 chr3 174951912 174951912 C T rs572064594 NAALADL2 Nonsynonymous SNV P246L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.3 55581 chr15 84442353 84442353 A G rs61733167 ADAMTSL3 Nonsynonymous SNV T90A 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 26.5 55582 chr14 74205510 74205510 G A rs748631406 ELMSAN1 Nonsynonymous SNV P401L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.83 55583 chr15 84561468 84561468 T C rs141912251 ADAMTSL3 Nonsynonymous SNV V432A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 22.7 55584 chr1 35442779 35442779 G A rs72896074 LOC653160 0 0 0.027 0 0 0 0 8 0 0 1 0 8.324 55585 chr15 99456369 99456369 G A rs2228531 IGF1R Synonymous SNV V562V 0.028 0.023 0.02 5 33 9 0.013 6 1 0 0 0 Conflicting interpretations of pathogenicity 1.865 55586 chr1 35447598 35447598 C G rs3892091 TMEM35B Nonsynonymous SNV V138L 0.007 0.013 0.027 0 8 5 0 8 0 0 1 0 7.216 55587 chr14 74757018 74757018 C T rs746653976 ABCD4 Nonsynonymous SNV G172S 0 0 0 2 0 0 0.005 0 0 0 0 0 19.82 55588 chr1 35452986 35452986 C T rs16837147 ZMYM6 Nonsynonymous SNV E1233K 0.008 0.018 0.027 1 9 7 0.003 8 0 0 1 0 29.4 55589 chr14 74757084 74757084 C T rs374984401 ABCD4 Nonsynonymous SNV E150K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.77 55590 chr15 42980731 42980731 C A rs139461243 STARD9 Synonymous SNV R2319R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.79 55591 chr1 35477551 35477551 T C rs35847987 ZMYM6 Synonymous SNV L334L 0.008 0.018 0.027 1 9 7 0.003 8 0 0 1 0 6.604 55592 chr15 43020434 43020434 G A rs114779238 CDAN1 Nonsynonymous SNV R946W 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Benign/Likely benign 34 55593 chr4 68510422 68510422 T C rs111297978 UBA6 Synonymous SNV K490K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 4.28 55594 chr14 74976852 74976852 G A rs45473602 LTBP2 Synonymous SNV S1031S 0.027 0.039 0.024 11 32 15 0.028 7 0 0 0 0 Benign/Likely benign 12.72 55595 chr4 123280860 123280860 T C rs1127348 KIAA1109 Synonymous SNV H4928H 0.135 0.148 0.163 58 158 57 0.149 48 7 4 7 4 3.862 55596 chr15 99762052 99762052 A G rs76007555 TTC23 Synonymous SNV H66H 0.06 0.063 0.027 24 71 24 0.062 8 2 0 0 1 1.001 55597 chr15 84651731 84651731 G A rs34729455 ADAMTSL3 Synonymous SNV A1117A 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 4.64 55598 chr1 3680345 3680345 C T rs144028564 CCDC27 Nonsynonymous SNV T466M 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 11.04 55599 chr3 180328194 180328194 T C rs143783615 TTC14 Nonsynonymous SNV V726A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.001 55600 chr1 36937878 36937878 C T rs3918018 CSF3R Nonsynonymous SNV D320N 0.029 0.013 0.017 11 34 5 0.028 5 0 0 0 0 Benign 9.27 55601 chr3 180359874 180359874 G A rs140505857 CCDC39 Nonsynonymous SNV T594I 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 55602 chr14 75513826 75513826 T C rs28756992 MLH3 Nonsynonymous SNV S845G 0.01 0.005 0.007 4 12 2 0.01 2 0 0 0 1 Benign/Likely benign 0.001 55603 chr4 47916150 47916150 G A NFXL1 Nonsynonymous SNV S24L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.97 55604 chr15 43018559 43018559 C T rs28661826 CDAN1 Synonymous SNV E1051E 0.019 0.018 0.027 8 22 7 0.021 8 0 0 0 0 Benign 14.2 55605 chr14 75514138 75514138 C A rs28756990 MLH3 Nonsynonymous SNV V741F 0.01 0.005 0.007 4 12 2 0.01 2 0 0 0 1 Benign/Likely benign 21.4 55606 chr15 43023163 43023163 G C rs139202766 CDAN1 Nonsynonymous SNV T656S 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Likely benign 14.33 55607 chr15 85403133 85403133 G C rs778715401 ALPK3 Nonsynonymous SNV E1364D 0.009 0 0 2 10 0 0.005 0 0 0 0 0 20.4 55608 chr14 75515693 75515693 C T rs28756980 MLH3 Synonymous SNV K222K 0.01 0.005 0.007 4 12 2 0.01 2 0 0 0 1 Benign/Likely benign 8.024 55609 chr14 75052587 75052587 G A rs149952751 LTBP2 Nonsynonymous SNV S267L 0.003 0.008 0.01 1 3 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 2.346 55610 chr14 75190002 75190002 T C rs41309250 FCF1 Nonsynonymous SNV M95T 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 23.7 55611 chr4 71115045 71115045 G A rs115386969 CSN3 Nonsynonymous SNV V140I 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 0.286 55612 chr15 43762078 43762083 GGGATA - rs540564502 TP53BP1 I455_P456del 0.014 0.01 0.01 7 17 4 0.018 3 0 0 0 0 55613 chr14 75230278 75230278 A C rs201738923 YLPM1 Nonsynonymous SNV E29A 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 22.8 55614 chr3 183521939 183521939 C T rs34612765 YEATS2 Synonymous SNV S1249S 0.084 0.083 0.071 31 99 32 0.079 21 5 1 1 2 8.017 55615 chr14 76107629 76107629 C T rs768605943 FLVCR2 Synonymous SNV A277A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.89 55616 chr15 86122765 86122765 C T rs114358244 AKAP13 Nonsynonymous SNV P489L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.88 55617 chr1 38485007 38485007 C T rs144179856 UTP11 Synonymous SNV T173T 0.017 0.013 0.007 3 20 5 0.008 2 0 1 0 0 14.59 55618 chr15 44918690 44918690 C T rs78183930 SPG11 Nonsynonymous SNV A695T 0.019 0.01 0.007 6 22 4 0.015 2 1 0 0 0 Benign 34 55619 chr15 45697636 45697636 A G rs549149186 SPATA5L1 Nonsynonymous SNV Y403C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.4 55620 chr15 44944037 44944037 C T rs77697105 SPG11 Nonsynonymous SNV E370K 0.035 0.021 0.027 16 41 8 0.041 8 1 0 1 0 Benign 25 55621 chr14 76957815 76957815 C T rs201417586 ESRRB Synonymous SNV D271D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 10.77 55622 chr15 44962188 44962188 G A rs143691336 PATL2 Nonsynonymous SNV P63L 0.032 0.018 0.024 16 38 7 0.041 7 0 0 0 0 19.95 55623 chr4 71471985 71471985 C A rs113506649 AMBN Nonsynonymous SNV H294Q 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Benign 0.005 55624 chr1 39758439 39758439 G T rs139995582 MACF1 Nonsynonymous SNV G644V 0.004 0.013 0.014 3 5 5 0.008 4 0 0 0 0 Benign 21.7 55625 chr1 39879517 39879517 G A rs587523 KIAA0754 Nonsynonymous SNV E1194K 0.015 0.026 0.014 8 18 10 0.021 4 1 0 0 0 11.71 55626 chr4 56502304 56502304 G T rs35771241 NMU Nonsynonymous SNV A19E 0.041 0.029 0.014 20 48 11 0.051 4 3 0 0 1 22.8 55627 chr4 71554462 71554462 C T rs16845385 UTP3 Nonsynonymous SNV T23M 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign 1.474 55628 chr4 71554478 71554478 T C rs16845387 UTP3 Synonymous SNV N28N 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign 0.001 55629 chr15 50152665 50152665 C T rs746086865 ATP8B4 Nonsynonymous SNV R1102Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.28 55630 chr14 77494013 77494013 G A rs144119177 IRF2BPL Synonymous SNV Y41Y 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.8 55631 chr3 183963381 183963381 T C rs2233463 ALG3 Nonsynonymous SNV I59V 0.02 0.023 0.034 9 24 9 0.023 10 0 0 0 0 Benign/Likely benign 10.67 55632 chr1 40366768 40366768 G A rs61751008 MYCL Synonymous SNV L113L 0.024 0.031 0.017 7 28 12 0.018 5 0 0 0 0 9.647 55633 chr4 72622566 72622566 A G rs4752 GC Synonymous SNV C299C 0.009 0.016 0.003 9 11 6 0.023 1 0 0 0 0 4.385 55634 chr4 143033778 143033778 T C rs3822141 INPP4B Synonymous SNV L731L 0.037 0.026 0.058 13 43 10 0.033 17 0 0 0 0 0.144 55635 chr15 86283483 86283483 G A rs150081112 AKAP13 Nonsynonymous SNV E1151K 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 16.15 55636 chr14 76249759 76249759 A G rs148677697 TTLL5 Nonsynonymous SNV T958A 0.043 0.047 0.01 24 51 18 0.062 3 1 0 0 0 0.069 55637 chr16 1258048 1258048 G A rs748550409 CACNA1H Nonsynonymous SNV G1064R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 55638 chr4 147561654 147561654 C G rs3827594 POU4F2 Synonymous SNV S308S 0.085 0.096 0.095 23 100 37 0.059 28 3 2 0 0 7.124 55639 chr15 49917401 49917401 G A rs11539519 DTWD1 Nonsynonymous SNV E13K 0.02 0.01 0.007 8 23 4 0.021 2 0 0 1 1 13.13 55640 chr3 185407241 185407241 A G rs369580066 IGF2BP2 Synonymous SNV D57D 0.009 0.008 0 0 11 3 0 0 0 0 0 0 0.659 55641 chr14 81662494 81662494 T C rs34999597 GTF2A1 Synonymous SNV P190P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.087 55642 chr4 68780407 68780407 T C rs148395045 TMPRSS11A Nonsynonymous SNV I332V 0.009 0 0.014 8 10 0 0.021 4 0 0 0 0 23.8 55643 chr16 1397545 1397545 G A rs761773035 BAIAP3 0 0.003 0 0 0 1 0 0 0 0 0 0 24 55644 chr14 86088667 86088667 C T FLRT2 Nonsynonymous SNV T270I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.96 55645 chr1 43215930 43215930 C T rs11581921 P3H1 Nonsynonymous SNV M549I 0.069 0.091 0.051 24 81 35 0.062 15 4 3 1 1 Conflicting interpretations of pathogenicity 20.6 55646 chr1 43353134 43353134 G T rs6674019 LOC339539 0 0 0.187 0 0 0 0 55 0 0 18 0 6.63 55647 chr1 43353213 43353213 G A rs6600428 LOC339539 0 0 0.656 0 0 0 0 193 0 0 96 0 0.704 55648 chr15 55664073 55664073 T C rs145070689 CCPG1 Synonymous SNV K208K 0.032 0.031 0.017 4 38 12 0.01 5 0 0 0 0 6.063 55649 chr4 77662125 77662125 C T rs36036308 SHROOM3 Synonymous SNV S933S 0.077 0.07 0.085 37 90 27 0.095 25 2 1 0 0 9.471 55650 chr14 88429775 88429775 C A rs759286485 GALC Nonsynonymous SNV A349S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.1 55651 chr4 77662486 77662486 G T rs71607374 SHROOM3 Nonsynonymous SNV V1054L 0.077 0.07 0.085 37 90 27 0.095 25 2 1 0 0 23.9 55652 chr1 43919081 43919081 T C rs142369206 HYI Nonsynonymous SNV Y96C 0.045 0.055 0.037 13 53 21 0.033 11 2 0 0 1 23.5 55653 chr14 88729603 88729603 C T rs137908592 KCNK10 Synonymous SNV A110A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 55654 chr14 79423644 79423644 G A rs139593796 NRXN3 Nonsynonymous SNV V406I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 55655 chr16 1536466 1536466 C T rs61751878 PTX4 Nonsynonymous SNV R299H 0.005 0.01 0.014 3 6 4 0.008 4 0 0 0 0 23.4 55656 chr15 52611493 52611493 C T MYO5A Synonymous SNV V1614V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.52 55657 chr1 44069494 44069494 C T rs767075536 PTPRF Nonsynonymous SNV R882W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 55658 chr4 79258862 79258862 G T rs396790 FRAS1 Synonymous SNV P771P 0.035 0.042 0.041 17 41 16 0.044 12 2 0 0 0 Benign 4.564 55659 chr3 188242555 188242555 T - LPP Y137Ifs*36 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 55660 chr4 79295322 79295322 G A rs17459809 FRAS1 Nonsynonymous SNV G1023E 0.035 0.049 0.037 16 41 19 0.041 11 2 0 0 0 Benign 0.001 55661 chr4 79295378 79295378 G A rs114077522 FRAS1 Nonsynonymous SNV A1042T 0.035 0.049 0.037 16 41 19 0.041 11 2 0 0 0 Benign 9.607 55662 chr3 190366144 190366144 T C rs34698427 IL1RAP Synonymous SNV L455L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 16.87 55663 chr14 91763720 91763720 G A rs142539336 CCDC88C Nonsynonymous SNV R1299C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 55664 chr15 90023558 90023558 G A rs17807723 RHCG Nonsynonymous SNV R202C 0.13 0.125 0.102 56 153 48 0.144 30 10 3 1 1 27 55665 chr14 88936327 88936327 T C PTPN21 Nonsynonymous SNV D980G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 32 55666 chr14 92537354 92537354 - CTGCTGCTGCTG rs763541221 ATXN3 A22_G23insAAAA 0.008 0 0 6 9 0 0.015 0 0 0 0 0 55667 chr14 90651111 90651111 G A rs116117726 KCNK13 Nonsynonymous SNV G331R 0.012 0.008 0.01 3 14 3 0.008 3 0 0 0 0 17.67 55668 chr4 79792163 79792163 G C rs2114202 BMP2K Nonsynonymous SNV Q486H 0.023 0.026 0.037 11 27 10 0.028 11 1 0 0 0 0.015 55669 chr14 90755015 90755015 G A rs142250129 NRDE2 Nonsynonymous SNV R902C 0.006 0.013 0.003 5 7 5 0.013 1 0 0 0 0 13.82 55670 chr4 81967150 81967150 G A rs3733549 BMP3 Nonsynonymous SNV R192Q 0.086 0.06 0.061 44 101 23 0.113 18 5 0 0 1 11.67 55671 chr15 90209135 90209135 G A rs8179074 PLIN1 Synonymous SNV F416F 0.072 0.068 0.051 24 84 26 0.062 15 2 1 1 0 Benign 12.53 55672 chr14 91655404 91655404 C G rs201585097 DGLUCY Nonsynonymous SNV A362G 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 22.3 55673 chr15 62456487 62456487 G A rs147804873 C2CD4B Nonsynonymous SNV L233F 0.044 0.034 0.02 13 52 13 0.033 6 0 1 0 1 7.911 55674 chr14 91792320 91792320 G A rs17127245 CCDC88C Synonymous SNV G377G 0.069 0.068 0.068 28 81 26 0.072 20 4 1 2 1 Benign 7.017 55675 chr16 18863690 18863690 C T rs200804039 SMG1 Synonymous SNV A1621A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 55676 chr1 47655599 47655599 C T rs11801079 PDZK1IP1 Synonymous SNV S2S 0.052 0.086 0.051 17 61 33 0.044 15 0 3 0 0 16.43 55677 chr4 84348761 84348761 A T rs139048661 HELQ Nonsynonymous SNV D810E 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 1.701 55678 chr1 47716889 47716889 C T rs146387723 STIL Synonymous SNV T1262T 0.009 0.01 0.007 6 11 4 0.015 2 0 1 0 0 Benign/Likely benign 12.41 55679 chr14 92560097 92560097 C T rs746205070 ATXN3 Nonsynonymous SNV D35N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 20.5 55680 chr16 19195010 19195010 C T rs11641594 SYT17 Synonymous SNV L160L 0.011 0.005 0.007 2 13 2 0.005 2 0 0 0 0 9.101 55681 chr15 59350686 59350686 T A rs142293140 RNF111 Nonsynonymous SNV S435T 0.009 0 0 6 10 0 0.015 0 0 0 0 0 Likely benign 16.97 55682 chr4 77305566 77305566 C T rs80162610 CCDC158 Nonsynonymous SNV R134Q 0.043 0.044 0.034 23 50 17 0.059 10 2 1 0 1 25.6 55683 chr4 85612894 85612894 T C rs17368018 WDFY3 Nonsynonymous SNV I3032V 0.026 0.013 0.031 6 30 5 0.015 9 0 0 0 0 3.614 55684 chr3 195300740 195300740 C T rs76929107 APOD Nonsynonymous SNV V76M 0.014 0.013 0.01 1 17 5 0.003 3 0 0 0 0 26.6 55685 chr14 94754645 94754645 A G rs779524045 SERPINA10 Nonsynonymous SNV W324R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 55686 chr14 94756362 94756362 C G rs771637964 SERPINA10 Nonsynonymous SNV C190S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.216 55687 chr15 91548289 91548289 C T rs145070485 VPS33B Nonsynonymous SNV R362Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 32 55688 chr1 49511311 49511311 C T rs72895659 AGBL4 Nonsynonymous SNV S192N 0.007 0.023 0.024 6 8 9 0.015 7 0 0 0 0 15.37 55689 chr4 78873732 78873732 A C MRPL1 Nonsynonymous SNV N317H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.008 55690 chr1 51796662 51796662 C T rs74080536 TTC39A-AS1 0.003 0.008 0.014 1 4 3 0.003 4 0 0 0 0 12.75 55691 chr16 20371972 20371972 A C rs4500734 PDILT Nonsynonymous SNV L475R 0.026 0.021 0.031 13 31 8 0.033 9 1 0 0 0 0.077 55692 chr1 52344111 52344111 G A rs78294602 NRDC Synonymous SNV T59T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.797 55693 chr14 94933664 94933664 C G rs940046636 SERPINA9 Synonymous SNV L148L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.086 55694 chr1 52861899 52861899 T G rs3087482 ORC1 Nonsynonymous SNV Q180H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.946 55695 chr1 52876825 52876825 C T rs114841001 PRPF38A Synonymous SNV L151L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.38 55696 chr1 52891130 52891130 C T rs556682070 TUT4 Synonymous SNV P1587P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.05 55697 chr1 52991569 52991569 T C rs61739318 TUT4 Synonymous SNV A128A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.136 55698 chr1 53262456 53262456 G A rs11206020 ZYG11B Synonymous SNV R495R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.91 55699 chr15 95013580 95013580 C T rs375490719 MCTP2 Synonymous SNV V738V 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 14.17 55700 chr1 53279378 53279378 C T rs61503874 ZYG11B Synonymous SNV S622S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.43 55701 chr1 53282255 53282255 T C rs12065861 ZYG11B Synonymous SNV V666V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.324 55702 chr4 79403000 79403000 C A rs376788346 FRAS1 Nonsynonymous SNV S2829Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 28.2 55703 chr1 53322784 53322784 G A rs12088002 ZYG11A Nonsynonymous SNV R124H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.4 55704 chr15 98513169 98513169 C T rs61741967 ARRDC4 Synonymous SNV I313I 0.012 0.013 0.01 3 14 5 0.008 3 0 0 0 0 18.03 55705 chr3 195944736 195944736 T C SLC51A Nonsynonymous SNV V21A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.86 55706 chr1 53535478 53535478 G A rs1288386 PODN Nonsynonymous SNV R32H 0 0 0.415 0 0 0 0 122 0 0 26 0 11.45 55707 chr4 94344032 94344032 C T rs72668716 GRID2 Synonymous SNV Y391Y 0.021 0.021 0.02 8 25 8 0.021 6 0 0 0 0 11.92 55708 chr15 99514335 99514335 A G rs116915938 PGPEP1L Nonsynonymous SNV L25P 0.027 0.021 0.02 8 32 8 0.021 6 0 0 0 0 22.8 55709 chr14 94953823 94953823 G C rs146053420 SERPINA12 Nonsynonymous SNV H354Q 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 24.5 55710 chr16 20996525 20996525 G A rs139502385 DNAH3 Synonymous SNV D2467D 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 7.714 55711 chr14 95080795 95080795 C T rs138583013 SERPINA3 Nonsynonymous SNV P6L 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 5.343 55712 chr4 96762158 96762158 G C rs147966234 PDHA2 Nonsynonymous SNV R286P 0.018 0.008 0.01 5 21 3 0.013 3 0 0 0 0 32 55713 chr16 21261685 21261685 C G rs17707647 ANKS4B Synonymous SNV L266L 0.04 0.031 0.061 10 47 12 0.026 18 1 0 0 0 5.081 55714 chr16 21654892 21654892 C T rs77836477 IGSF6 Nonsynonymous SNV E188K 0.011 0.018 0.027 7 13 7 0.018 8 0 0 1 0 19.71 55715 chr15 66779598 66779598 A G MAP2K1 Nonsynonymous SNV I310V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.7 55716 chr4 266124 266124 C T rs114394748 ZNF732 Synonymous SNV K174K 0.034 0.021 0.054 8 40 8 0.021 16 1 0 2 0 10.11 55717 chr4 266147 266147 T C rs202099832 ZNF732 Nonsynonymous SNV K167E 0.008 0.013 0.003 1 9 5 0.003 1 0 0 0 0 23 55718 chr15 67457698 67457698 A G rs35874463 SMAD3 Nonsynonymous SNV I65V 0.041 0.057 0.054 12 48 22 0.031 16 0 0 0 0 Benign/Likely benign 13.45 55719 chr14 99865151 99865151 G A rs755211423 SETD3 Synonymous SNV N550N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.025 55720 chr15 101718927 101718927 G A rs3743193 CHSY1 Nonsynonymous SNV P359S 0.079 0.036 0.068 36 93 14 0.092 20 3 1 1 4 7.747 55721 chr4 100571808 100571808 C G C4orf54 Nonsynonymous SNV R1333P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 55722 chr16 1251760 1251760 G A rs59461207 CACNA1H Nonsynonymous SNV R437Q 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 27.3 55723 chr16 2511114 2511114 G A rs199831316 TEDC2 Nonsynonymous SNV R165H 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 6.981 55724 chr16 25228722 25228722 C T rs138117795 AQP8 Synonymous SNV H72H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.313 55725 chr15 73615786 73615786 G C rs148398509 HCN4 Nonsynonymous SNV P883R 0.014 0.008 0.01 4 16 3 0.01 3 0 0 0 0 Benign/Likely benign 4.529 55726 chr4 985418 985418 C T rs35719765 SLC26A1 Nonsynonymous SNV R25Q 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 0.002 55727 chr16 1447282 1447282 - GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT UNKL Frameshift insertion P250Hfs*36 0.021 0.026 0 6 25 10 0.015 0 1 0 0 0 55728 chr1 59042181 59042181 G T rs14008 TACSTD2 Nonsynonymous SNV D216E 0.043 0.039 0.027 16 50 15 0.041 8 0 0 0 0 Benign 14 55729 chr1 59042388 59042388 C G rs1062964 TACSTD2 Nonsynonymous SNV E147D 0.036 0.031 0.02 6 42 12 0.015 6 0 0 0 0 Benign 23 55730 chr4 106395144 106395144 T C rs35571699 PPA2 Nonsynonymous SNV T22A 0.037 0.044 0.017 10 43 17 0.026 5 0 1 0 0 not provided 0.002 55731 chr4 106848524 106848524 A G rs35253385 NPNT Synonymous SNV E68E 0.025 0.021 0.037 7 29 8 0.018 11 0 0 0 0 3.516 55732 chr15 72545783 72545783 C G rs140971620 PARP6 Synonymous SNV L398L 0.008 0.021 0.007 5 9 8 0.013 2 0 0 0 0 11.02 55733 chr15 74176557 74176557 G A rs16958445 TBC1D21 Nonsynonymous SNV R77Q 0.018 0.005 0.014 5 21 2 0.013 4 0 0 1 0 15.21 55734 chr4 106863655 106863655 A C rs144959760 NPNT Nonsynonymous SNV T319P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.105 55735 chr1 62120303 62120303 G A rs7554821 MGC34796 0 0 0.173 0 0 0 0 51 0 0 2 0 1.671 55736 chr1 62120581 62120581 A G rs7532358 MGC34796 0 0 0.16 0 0 0 0 47 0 0 4 0 3.849 55737 chr15 74220000 74220000 C T rs41429348 LOXL1 Synonymous SNV D292D 0.03 0.044 0.024 15 35 17 0.038 7 0 0 0 0 1.005 55738 chr4 110454764 110454764 G A SEC24B Nonsynonymous SNV V1136I 0.007 0.003 0 0 8 1 0 0 0 0 0 0 11.86 55739 chr15 75199043 75199043 T G rs145289460 FAM219B Synonymous SNV P33P 0.014 0.008 0.007 5 17 3 0.013 2 1 0 0 0 5.624 55740 chr15 74337073 74337073 C G rs61751124 PML Synonymous SNV P791P 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Benign 3.77 55741 chr16 16244584 16244584 C T rs58668703 ABCC6 Synonymous SNV R1418R 0.009 0.016 0.007 9 11 6 0.023 2 0 0 0 0 Benign 16.08 55742 chr1 62626699 62626699 G A rs552165666 PATJ Synonymous SNV G1874G 0 0 0.007 0 0 0 0 2 0 0 0 0 14.06 55743 chr16 28509509 28509509 G A rs61738759 APOBR Synonymous SNV P1021P 0.018 0.01 0.014 5 21 4 0.013 4 1 0 0 0 3.146 55744 chr15 75644504 75644504 G A rs751830203 NEIL1 Nonsynonymous SNV E249K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 55745 chr4 114286282 114286282 G T rs556640912 ANK2 Nonsynonymous SNV R750L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 55746 chr1 65045603 65045603 A - rs397808274 MIR4794 0 0 0.83 0 0 0 0 244 0 0 98 0 55747 chr15 78317679 78317679 C T rs148026593 TBC1D2B Synonymous SNV P336P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.27 55748 chr1 6524688 6524688 T C rs3170675 TNFRSF25 Synonymous SNV Q84Q 0.018 0.018 0.02 10 21 7 0.026 6 0 0 0 1 0.03 55749 chr4 3076657 3076657 - CAGCAGCAGCAGCAA HTT Q38_P39insQQQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 55750 chr4 3076693 3076693 - CCT rs547233813 HTT P49_Q50insP 0.017 0.026 0.014 11 20 10 0.028 4 1 0 1 0 55751 chr1 66102617 66102617 A G rs61781316 LEPR Synonymous SNV A1139A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.211 55752 chr16 30408961 30408961 C T rs61978578 ZNF48 Synonymous SNV H7H 0.073 0.068 0.048 34 86 26 0.087 14 3 2 0 0 7.257 55753 chr15 78474476 78474476 C T rs2304823 ACSBG1 Synonymous SNV T298T 0.026 0.026 0.027 12 30 10 0.031 8 0 0 0 0 12.01 55754 chr16 19693627 19693627 C T rs117014682 VPS35L Synonymous SNV S721S 0.014 0.026 0.034 7 16 10 0.018 10 0 0 1 0 20.2 55755 chr16 19883565 19883565 C T rs747508519 GPRC5B Synonymous SNV V332V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 8.352 55756 chr4 3424231 3424231 C T rs16844330 RGS12 Synonymous SNV S341S 0.102 0.096 0.092 29 120 37 0.074 27 7 2 2 0 13.81 55757 chr16 30964859 30964859 C T rs148850385 ORAI3 Synonymous SNV P194P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.676 55758 chr4 3521837 3521837 C T rs138080464 LRPAP1 Nonsynonymous SNV G145R 0.01 0.008 0.003 4 12 3 0.01 1 0 0 0 0 16.47 55759 chr4 4411392 4411392 C T rs146160425 NSG1 Synonymous SNV P113P 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 15.42 55760 chr4 5578101 5578101 G C rs73074138 EVC2 Nonsynonymous SNV S966R 0.021 0.013 0.01 8 25 5 0.021 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 55761 chr1 67816729 67816729 T G rs775348317 IL12RB2 Nonsynonymous SNV S405R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.383 55762 chr5 6751208 6751208 G A rs113180271 TENT4A Synonymous SNV A639A 0.009 0.008 0.017 3 10 3 0.008 5 0 0 0 0 7.464 55763 chr4 5624530 5624530 T C rs60121553 EVC2 Synonymous SNV E665E 0.025 0.016 0.014 13 29 6 0.033 4 0 0 0 0 Benign 0.036 55764 chr16 31089341 31089341 A G rs35041466 ZNF646 Nonsynonymous SNV T566A 0.025 0.023 0.024 5 29 9 0.013 7 1 0 0 0 0.001 55765 chr4 123855553 123855553 G T rs17006342 SPATA5 Synonymous SNV L268L 0.013 0.023 0.017 11 15 9 0.028 5 0 0 0 0 Benign 3.977 55766 chr1 68943605 68943605 G A rs769937008 DEPDC1 Synonymous SNV Y437Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.041 55767 chr4 5630442 5630442 A G rs113869406 EVC2 Nonsynonymous SNV M497T 0.015 0.01 0.01 8 18 4 0.021 3 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 55768 chr16 31091521 31091521 G A rs760725312 ZNF646 Synonymous SNV A1292A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.804 55769 chr16 20944654 20944654 - T rs752386692 DNAH3 Frameshift insertion M4012Nfs*36 0.002 0 0 0 2 0 0 0 0 0 0 0 55770 chr16 31146797 31146797 C T rs148529565 PRSS8 Nonsynonymous SNV G8E 0.033 0.029 0.02 3 39 11 0.008 6 0 1 0 0 Benign 7.293 55771 chr4 114214679 114214681 CAC - rs786205730 ANK2 T35del 0 0 0.007 3 0 0 0.008 2 0 0 0 0 55772 chr4 5894586 5894586 G A rs143304363 CRMP1 Synonymous SNV A37A 0.055 0.068 0.058 26 65 26 0.067 17 1 0 0 2 15.9 55773 chr4 6290780 6290780 G T rs71524350 WFS1 Nonsynonymous SNV D128Y 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 14.49 55774 chr16 20975325 20975325 T A rs138753702 DNAH3 Nonsynonymous SNV Y3248F 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 24.3 55775 chr16 31470886 31470886 T A rs151069962 ARMC5 Nonsynonymous SNV F14Y 0.042 0.042 0.061 12 49 16 0.031 18 1 0 1 0 17.99 55776 chr4 6864122 6864122 T C rs142571687 KIAA0232 Synonymous SNV N671N 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 0.151 55777 chr4 119661857 119661857 G A rs140046192 SEC24D Synonymous SNV H734H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.8 55778 chr15 41046883 41046883 C A rs11558807 RMDN3 Nonsynonymous SNV Q33H 0.02 0.021 0.017 9 24 8 0.023 5 0 0 0 0 16.53 55779 chr4 119978796 119978796 C T rs61529635 SYNPO2 Nonsynonymous SNV R1134W 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 26.2 55780 chr16 22149688 22149688 T C rs145806753 VWA3A Nonsynonymous SNV F716S 0.014 0.01 0.01 6 17 4 0.015 3 0 0 0 0 23.7 55781 chr15 41247629 41247629 A G rs147487857 CHAC1 Nonsynonymous SNV K109R 0.009 0.013 0.007 3 11 5 0.008 2 0 0 0 0 4.008 55782 chr15 41388452 41388452 G A rs144276063 INO80 Synonymous SNV P19P 0.024 0.021 0.017 4 28 8 0.01 5 2 0 0 0 5.333 55783 chr1 7913004 7913004 A G rs45512694 UTS2 Synonymous SNV S20S 0.043 0.042 0.061 21 51 16 0.054 18 2 0 0 1 1.785 55784 chr16 2223357 2223357 G A rs377382568 TRAF7 Synonymous SNV S323S 0.007 0.008 0 2 8 3 0.005 0 1 0 0 0 6.851 55785 chr4 122682720 122682720 C T rs138330999 TMEM155 Nonsynonymous SNV R36H 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 18.73 55786 chr4 8230053 8230053 C T rs116515695 SH3TC1 Nonsynonymous SNV R802W 0.023 0.023 0.024 8 27 9 0.021 7 0 0 0 0 23.3 55787 chr1 8030994 8030994 G A rs71653619 PARK7 Nonsynonymous SNV R98Q 0.021 0.021 0.02 9 25 8 0.023 6 0 0 0 0 Benign/Likely benign 13.6 55788 chr4 140811463 140811463 G A rs191558574 MAML3 Nonsynonymous SNV A376V 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 8.518 55789 chr4 8230148 8230148 C T rs147408044 SH3TC1 Synonymous SNV F833F 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 8.157 55790 chr4 123140555 123140555 G A rs373369660 KIAA1109 Nonsynonymous SNV V770I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.6 55791 chr4 8233750 8233750 A G rs146877451 SH3TC1 Nonsynonymous SNV M924V 0.027 0.026 0.02 9 32 10 0.023 6 0 0 0 0 0.094 55792 chr15 41308365 41308365 A C rs34178030 INO80 Nonsynonymous SNV V1108G 0.02 0.016 0.003 4 24 6 0.01 1 0 0 0 0 18.86 55793 chr16 3613327 3613327 G A rs146476058 NLRC3 Synonymous SNV G537G 0.009 0.023 0 4 11 9 0.01 0 0 0 0 0 5.736 55794 chr4 8401319 8401319 G A rs114063923 ACOX3 Synonymous SNV D279D 0.013 0.01 0 0 15 4 0 0 0 0 0 0 9.189 55795 chr4 144619314 144619314 T G rs61745865 FREM3 Nonsynonymous SNV I839L 0.037 0.049 0.054 25 43 19 0.064 16 0 0 0 2 17.68 55796 chr4 144620134 144620134 A G rs144048977 FREM3 Synonymous SNV F565F 0.014 0.01 0.01 4 16 4 0.01 3 0 0 0 0 0.003 55797 chr4 123748086 123748086 C T rs1449683 FGF2 Synonymous SNV S52S 0.065 0.049 0.014 34 76 19 0.087 4 7 2 0 2 15.55 55798 chr16 4165257 4165257 C A rs147045155 ADCY9 Nonsynonymous SNV V63F 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 12.09 55799 chr15 89056292 89056292 G T rs75714837 DET1 Synonymous SNV R515R 0.049 0.042 0.061 29 58 16 0.074 18 2 0 0 0 13.03 55800 chr16 427498 427498 G A rs143579905 PGAP6 Synonymous SNV V129V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.182 55801 chr16 24802331 24802331 C T rs72770409 TNRC6A Synonymous SNV L790L 0.089 0.089 0.075 30 104 34 0.077 22 5 1 0 0 5.665 55802 chr16 24802572 24802572 A G rs150912811 TNRC6A Nonsynonymous SNV N870S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Likely benign 6.688 55803 chr4 148944528 148944528 G A rs756362452 ARHGAP10 Nonsynonymous SNV V611M 0.012 0.008 0 3 14 3 0.008 0 0 0 0 0 20.7 55804 chr4 8613762 8613762 G T rs147588134 CPZ Nonsynonymous SNV K401N 0.015 0.008 0.017 4 18 3 0.01 5 0 0 0 0 26.7 55805 chr16 2550466 2550466 G A rs201059992 TBC1D24 Synonymous SNV A494A 0.007 0.008 0 2 8 3 0.005 0 1 0 0 0 Benign/Likely benign 5.12 55806 chr16 2580279 2580279 G A rs373215016 AMDHD2 Nonsynonymous SNV G435D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.96 55807 chr16 460976 460976 G A rs140561403 DECR2 Synonymous SNV A187A 0.019 0.018 0.024 12 22 7 0.031 7 0 0 0 0 9.048 55808 chr4 128722347 128722347 G A rs145179103 HSPA4L Nonsynonymous SNV V121I 0 0 0 2 0 0 0.005 0 0 0 0 0 13.98 55809 chr16 4638271 4638271 C T rs140406650 C16orf96 Nonsynonymous SNV T844M 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 20.8 55810 chr16 4659660 4659660 G A UBALD1 Nonsynonymous SNV H145Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.683 55811 chr4 153691014 153691014 T C rs922671560 TIGD4 Synonymous SNV K381K 0.01 0.013 0 2 12 5 0.005 0 0 0 0 0 0.002 55812 chr4 153896765 153896765 G C rs7688776 FHDC1 Synonymous SNV S774S 0.046 0.042 0.044 23 54 16 0.059 13 0 1 1 0 2.629 55813 chr16 2820446 2820446 C G rs35899615 SRRM2 Synonymous SNV P2705P 0.049 0.057 0.034 15 58 22 0.038 10 3 1 0 1 0.164 55814 chr16 2834711 2834711 G A rs45570838 PRSS33 Synonymous SNV N259N 0.107 0.076 0.109 48 126 29 0.123 32 5 1 3 3 5.94 55815 chr1 87716226 87716226 T A rs11161953 LINC02801 Stop gain Y22X 0.102 0.112 0.156 63 120 43 0.162 46 4 4 3 6 6.576 55816 chr4 15004499 15004499 C T rs116150154 CPEB2 Nonsynonymous SNV P68S 0.078 0.052 0.058 26 91 20 0.067 17 6 1 0 0 23.1 55817 chr15 43501546 43501546 C T rs200979505 EPB42 Nonsynonymous SNV R283Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 55818 chr4 15004876 15004876 G A rs146101385 CPEB2 Synonymous SNV S193S 0.069 0.049 0.054 24 81 19 0.062 16 6 1 0 0 9.66 55819 chr16 28837687 28837687 G A rs117987062 ATXN2L Nonsynonymous SNV V198I 0.02 0.026 0.01 6 23 10 0.015 3 0 0 0 0 22.8 55820 chr15 44093971 44093971 C T HYPK Synonymous SNV N111N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.55 55821 chr15 45249121 45249121 C G rs11638723 TERB2 Nonsynonymous SNV P31R 0.022 0.034 0.02 10 26 13 0.026 6 0 0 0 0 6.775 55822 chr16 2980006 2980006 A G rs146665306 FLYWCH1 Nonsynonymous SNV D107G 0.008 0.031 0 4 9 12 0.01 0 0 0 0 0 7.159 55823 chr4 155459158 155459158 T C PLRG1 Synonymous SNV T409T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.921 55824 chr1 90459982 90459982 G A rs7556257 GEMIN8P4 0 0 0.901 0 0 0 0 265 0 0 126 0 3.681 55825 chr1 914318 914318 C G rs764219592 PERM1 Nonsynonymous SNV G698R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.494 55826 chr15 89753546 89753546 G C rs144615495 RLBP1 Synonymous SNV P308P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.635 55827 chr15 90334184 90334184 T G ANPEP Nonsynonymous SNV D890A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 55828 chr4 144434975 144434975 C A rs764003771 SMARCA5-AS1 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 10.04 55829 chr4 144435155 144435155 C T rs370709174 SMARCA5 Synonymous SNV S26S 0.005 0.013 0 6 6 5 0.015 0 0 0 0 0 Benign 16.34 55830 chr15 42749394 42749394 C G ZNF106 Nonsynonymous SNV G4R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 55831 chr4 146018410 146018410 A G rs33945846 ANAPC10 Nonsynonymous SNV M26T 0.099 0.107 0 45 116 41 0.115 0 5 1 0 1 7.284 55832 chr4 146080703 146080703 G C rs36225458 OTUD4 Nonsynonymous SNV A129G 0.009 0.013 0.014 3 11 5 0.008 4 0 0 0 0 Uncertain significance 15.57 55833 chr16 52473512 52473512 - TGC rs539707755 TOX3 Q455_M456insQ 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 55834 chr4 25125703 25125703 C G rs2302566 SEPSECS Nonsynonymous SNV K452N 0.063 0.073 0.054 22 74 28 0.056 16 5 0 0 1 Benign 18.75 55835 chr4 25235801 25235801 G A rs10021593 PI4K2B Nonsynonymous SNV E6K 0.037 0.049 0.031 19 43 19 0.049 9 4 1 0 1 27.1 55836 chr4 148796198 148796198 G A rs113611599 ARHGAP10 Synonymous SNV R243R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 14.01 55837 chr4 160266350 160266350 A G rs757531615 RAPGEF2 Nonsynonymous SNV N963S 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 23.7 55838 chr15 91035827 91035827 G A rs112274735 IQGAP1 Synonymous SNV V1504V 0.028 0.026 0.017 16 33 10 0.041 5 0 1 0 0 4.278 55839 chr16 30567396 30567396 C T rs137968351 ZNF764 Nonsynonymous SNV E115K 0.003 0 0 0 3 0 0 0 0 0 0 0 7.283 55840 chr15 49917375 49917375 A G rs768241776 DTWD1 Nonsynonymous SNV N4S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 55841 chr16 55519607 55519607 C T rs1053605 MMP2 Synonymous SNV T200T 0.072 0.083 0.061 18 84 32 0.046 18 4 1 1 0 Benign 8.276 55842 chr15 51014367 51014367 A T rs116939379 SPPL2A Nonsynonymous SNV D427E 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 28 55843 chr4 164507052 164507052 C T rs113790828 MARCHF1 Nonsynonymous SNV S74N 0.012 0.016 0.007 4 14 6 0.01 2 0 0 0 0 15.62 55844 chr15 91449190 91449190 C T rs373746196 MAN2A2 Synonymous SNV S217S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.68 55845 chr15 43821037 43821037 C T rs778664356 MAP1A Nonsynonymous SNV P2456S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.63 55846 chr4 27000881 27000881 G A rs142156031 STIM2 Nonsynonymous SNV M179I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 55847 chr15 91491964 91491964 C A rs199723045 UNC45A Nonsynonymous SNV D461E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.8 55848 chr15 51748564 51748564 A G rs76659258 DMXL2 Synonymous SNV L2122L 0.038 0.036 0.031 14 45 14 0.036 9 1 2 0 2 10.35 55849 chr15 51828890 51828890 G C rs143850714 DMXL2 Nonsynonymous SNV S596C 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 6.104 55850 chr5 43650654 43650654 C T rs771085413 NNT Nonsynonymous SNV A430V 0.005 0 0 0 6 0 0 0 0 0 0 0 23 55851 chr4 169060675 169060675 C T rs111362741 ANXA10 Nonsynonymous SNV R47C 0.012 0.01 0.014 4 14 4 0.01 4 0 0 0 0 29.4 55852 chr5 43656074 43656074 C T rs75710404 NNT Nonsynonymous SNV T600M 0.018 0.005 0.02 5 21 2 0.013 6 0 0 1 0 Benign 13.95 55853 chr15 52404866 52404866 - GGTGCGCTCCCGCAGCGGGTCGGCCATGGT rs776409251 BCL2L10 T19_E20insTMADPLRERT 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 55854 chr4 169183895 169183895 C T rs74374731 DDX60 Nonsynonymous SNV R1028Q 0.003 0 0 0 4 0 0 0 0 0 0 0 24 55855 chr16 30999434 30999434 T C rs34212827 HSD3B7 Nonsynonymous SNV L347P 0.023 0.008 0.007 5 27 3 0.013 2 0 0 0 0 Benign 27.4 55856 chr15 90800413 90800413 T C rs144574787 TTLL13P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 55857 chr1 96488272 96488272 C A rs15686 LINC02790 0 0 0.384 0 0 0 0 113 0 0 20 0 1.184 55858 chr1 9811618 9811618 C T rs145314187 CLSTN1 Nonsynonymous SNV V178M 0.004 0.005 0.007 4 5 2 0.01 2 1 0 0 0 23.5 55859 chr15 54786879 54786879 T C rs78088948 UNC13C Synonymous SNV N1669N 0.004 0.01 0.01 3 5 4 0.008 3 0 0 0 0 3.475 55860 chr16 57093436 57093436 G T rs117950337 NLRC5 Nonsynonymous SNV K1297N 0.035 0.052 0.037 12 41 20 0.031 11 3 0 1 0 23 55861 chr4 170994350 170994350 A G rs12640652 AADAT Synonymous SNV V197V 0.003 0 0 0 4 0 0 0 0 0 0 0 5.742 55862 chr15 56035093 56035093 G A rs35718474 PRTG Nonsynonymous SNV P13S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 18.89 55863 chr4 174292529 174292529 C G rs201052655 SAP30 Nonsynonymous SNV L66V 0.003 0 0 0 4 0 0 0 0 0 0 0 4.688 55864 chr16 31232235 31232235 A G TRIM72 Nonsynonymous SNV S246G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 55865 chr16 57732012 57732012 G A rs55645458 DRC7 Nonsynonymous SNV D51N 0.04 0.044 0.031 21 47 17 0.054 9 0 0 0 1 23 55866 chr15 56285721 56285721 G A rs77914199 NEDD4 Synonymous SNV L11L 0.023 0.018 0.041 8 27 7 0.021 12 0 0 1 0 13.09 55867 chr20 126156 126159 CAAA - rs11467497 DEFB126 Q55Gfs*28 0.174 0.211 0.187 73 204 81 0.187 55 22 8 7 4 55868 chr20 1286662 1286662 G A rs62187495 SNPH Synonymous SNV P483P 0.016 0.029 0.044 2 19 11 0.005 13 1 0 0 0 0.032 55869 chr16 108408 108408 C T rs57236135 RHBDF1 Synonymous SNV E833E 0.009 0.005 0.01 8 10 2 0.021 3 0 0 0 0 8.827 55870 chr15 57730292 57730292 C G CGNL1 Nonsynonymous SNV S32C 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 17.48 55871 chr15 51634150 51634150 C T rs186935606 GLDN Nonsynonymous SNV A90V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.44 55872 chr16 108735 108735 G A rs566058949 RHBDF1 Synonymous SNV F724F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.166 55873 chr4 38945078 38945078 G A rs981096656 FAM114A1 Nonsynonymous SNV G404D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 27 55874 chr16 57937856 57937856 G T rs413562 CNGB1 Synonymous SNV A882A 0.08 0.089 0.027 43 94 34 0.11 8 5 1 1 0 Benign 6.344 55875 chr16 57954420 57954420 T G rs774536610 CNGB1 Nonsynonymous SNV S552R 0 0.003 0.01 0 0 1 0 3 0 0 0 0 25.6 55876 chr4 162307000 162307000 T C rs17040982 FSTL5 Nonsynonymous SNV K805E 0.047 0.029 0.041 11 55 11 0.028 12 0 0 0 0 10.68 55877 chr16 113177 113177 T C rs139750325 RHBDF1 Nonsynonymous SNV I156V 0.011 0.016 0.007 1 13 6 0.003 2 0 0 0 0 0.002 55878 chr16 58537691 58537691 C T rs201024708 NDRG4 Nonsynonymous SNV S22F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.432 55879 chr15 52497324 52497324 C T rs1024104735 MYO5C Nonsynonymous SNV E1520K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 55880 chr16 1034930 1034930 C A rs56253414 SOX8 Synonymous SNV A295A 0.02 0.018 0.014 14 23 7 0.036 4 0 0 0 0 5.395 55881 chr16 58752466 58752466 C T rs11076256 GOT2 Nonsynonymous SNV G145S 0.041 0.044 0.034 23 48 17 0.059 10 0 0 0 1 24.6 55882 chr15 52543615 52543615 G T rs72734946 MYO5C Nonsynonymous SNV S545Y 0.019 0.026 0.034 7 22 10 0.018 10 0 0 0 0 27.9 55883 chr5 56778496 56778496 A G rs114700949 ACTBL2 Synonymous SNV N13N 0.01 0.023 0.007 1 12 9 0.003 2 0 0 0 0 0.029 55884 chr16 1144892 1144892 G A rs199555950 C1QTNF8 Synonymous SNV L11L 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 0.13 55885 chr15 62219337 62219337 G A rs75341202 VPS13C Nonsynonymous SNV L2114F 0.004 0.01 0.024 1 5 4 0.003 7 0 0 0 0 Benign 24.9 55886 chr16 66422318 66422318 A G rs112140637 CDH5 Synonymous SNV K197K 0.012 0.01 0.014 5 14 4 0.013 4 0 0 0 0 6.315 55887 chr4 169343044 169343044 A G rs61740705 DDX60L Nonsynonymous SNV V754A 0.138 0.19 0.177 65 162 73 0.167 52 12 4 3 7 22.6 55888 chr16 66503778 66503778 C T rs72788593 BEAN1-AS1 0.027 0.018 0.003 10 32 7 0.026 1 0 0 0 0 4.415 55889 chr16 11362819 11362819 G A rs34904070 TNP2 Nonsynonymous SNV R101C 0.031 0.021 0.048 11 36 8 0.028 14 0 1 1 1 21.9 55890 chr4 169382991 169382991 C A rs17612630 DDX60L Synonymous SNV T155T 0.122 0.182 0.15 60 143 70 0.154 44 11 5 3 5 13.83 55891 chr5 67588148 67588148 G A rs3730089 PIK3R1 Nonsynonymous SNV M56I 0.136 0.115 0.126 63 160 44 0.162 37 12 2 5 9 Benign/Likely benign 17.51 55892 chr16 66656102 66656102 C T rs35837672 CMTM4 Synonymous SNV A162A 0.022 0.021 0.003 6 26 8 0.015 1 0 0 0 0 11.61 55893 chr16 11864756 11864756 T C rs150823676 ZC3H7A Nonsynonymous SNV I331V 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 0.086 55894 chr4 47663736 47663736 T C rs144941289 CORIN Nonsynonymous SNV Y472C 0.005 0.008 0 0 6 3 0 0 0 0 0 0 10.76 55895 chr15 64419374 64419374 G T rs34257057 SNX1 Synonymous SNV G153G 0.068 0.078 0.054 38 80 30 0.097 16 4 2 0 2 13.57 55896 chr4 174235304 174235304 C A rs144873913 GALNT7 Nonsynonymous SNV P529T 0.009 0.01 0.007 6 11 4 0.015 2 0 0 0 0 30 55897 chr4 187026626 187026626 C T rs13146756 FAM149A Synonymous SNV G132G 0.06 0.029 0.037 29 70 11 0.074 11 6 0 1 1 12.16 55898 chr4 47676433 47676433 G A rs373873941 CORIN Nonsynonymous SNV P341L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.281 55899 chr16 67262278 67262278 G A rs376219954 TMEM208 Synonymous SNV T41T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 55900 chr16 1250433 1250433 C T rs761021717 CACNA1H Synonymous SNV A327A 0.004 0 0 6 5 0 0.015 0 0 0 0 1 12.47 55901 chr4 47953415 47953415 C A rs201031527 CNGA1 Nonsynonymous SNV G133V 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Uncertain significance 14.88 55902 chr4 177138055 177138055 A G rs376945841 ASB5 Nonsynonymous SNV I259T 0.004 0 0 6 5 0 0.015 0 0 0 0 0 10.5 55903 chr16 67695483 67695483 T C rs139372052 PARD6A Synonymous SNV D63D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.171 55904 chr16 67840417 67840417 G A rs765025030 RANBP10 Nonsynonymous SNV P8L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 55905 chr15 65628287 65628287 C T rs117357415 IGDCC3 Synonymous SNV S139S 0.066 0.06 0.037 22 78 23 0.056 11 3 1 0 0 17.27 55906 chr15 65715153 65715153 G C rs576529626 IGDCC4 Synonymous SNV T16T 0 0 0 2 0 0 0.005 0 0 0 0 0 1.787 55907 chr15 62212312 62212312 T C rs779861822 VPS13C Synonymous SNV L2434L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.966 55908 chr15 66206204 66206204 G A rs3803414 MEGF11 Nonsynonymous SNV L861F 0.071 0.068 0.082 34 83 26 0.087 24 3 0 2 0 25.9 55909 chr16 68071946 68071946 C G DUS2 Nonsynonymous SNV S7C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 55910 chr4 55979558 55979558 C T rs2305948 KDR Nonsynonymous SNV V297I 0.098 0.107 0.099 52 115 41 0.133 29 5 0 2 3 not provided 25.6 55911 chr5 72427404 72427404 C G rs61746311 TMEM171 Nonsynonymous SNV D273E 0.088 0.083 0.075 26 103 32 0.067 22 4 1 2 0 0.004 55912 chr15 66729107 66729107 C T rs144166521 MAP2K1 Synonymous SNV P105P 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Benign 17.13 55913 chr15 67473790 67473790 C T rs117185005 SMAD3 Synonymous SNV I95I 0.01 0.01 0.007 6 12 4 0.015 2 0 0 0 0 Benign/Likely benign 8.05 55914 chr16 1510422 1510422 T C CLCN7 Nonsynonymous SNV I173M 0.004 0 0 6 5 0 0.015 0 0 0 0 1 7.949 55915 chr20 20033316 20033316 G A rs142988900 CRNKL1 Nonsynonymous SNV R40W 0.006 0.005 0.014 1 7 2 0.003 4 0 0 0 0 20.5 55916 chr20 20079360 20079360 A G rs6075614 CFAP61 Nonsynonymous SNV H254R 0.097 0.12 0.109 48 114 46 0.123 32 5 5 1 2 0.023 55917 chr20 210306 210306 C G rs1053783 DEFB129 Nonsynonymous SNV T149S 0.121 0.112 0.119 32 142 43 0.082 35 11 3 2 2 12.21 55918 chr16 69177268 69177268 C T rs2288036 UTP4 Synonymous SNV D155D 0.056 0.034 0.041 15 66 13 0.038 12 3 0 0 0 Benign 8.914 55919 chr4 57976487 57976487 G A rs11573021 IGFBP7 Nonsynonymous SNV L11F 0.059 0.063 0.051 22 69 24 0.056 15 10 4 5 3 10.17 55920 chr4 62845461 62845461 C G rs12509110 ADGRL3 Nonsynonymous SNV L910V 0.014 0.013 0.007 2 17 5 0.005 2 0 0 0 0 23.9 55921 chr20 23028728 23028728 G A THBD Nonsynonymous SNV L472F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 55922 chr15 65350778 65350778 T C rs557042448 RASL12 Nonsynonymous SNV M119V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 55923 chr16 15809117 15809117 C T rs28505375 MYH11 Synonymous SNV A1839A 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 Benign/Likely benign 13.16 55924 chr5 465838 465838 C T rs13162508 EXOC3 Synonymous SNV F648F 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 12.88 55925 chr16 15818653 15818653 G A rs12907 MYH11 Synonymous SNV L1323L 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 Benign 10.1 55926 chr5 75964507 75964507 C T rs34950321 IQGAP2 Nonsynonymous SNV T390I 0.032 0.036 0.017 13 37 14 0.033 5 1 0 0 0 32 55927 chr16 55883552 55883552 C A rs139759367 CES5A Synonymous SNV G469G 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 16.26 55928 chr16 55905536 55905536 C T rs117887370 CES5A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 55929 chr15 72063463 72063468 ATGACT - rs577772364 THSD4 M584_T585del 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 55930 chr15 65676385 65676385 G A rs143179618 IGDCC4 Nonsynonymous SNV P1239S 0.01 0 0.003 3 12 0 0.008 1 0 0 0 0 27.4 55931 chr16 1822443 1822443 C G rs139953295 MRPS34 Nonsynonymous SNV E153Q 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 25.6 55932 chr5 76373593 76373593 - GGCGTC rs543481899 ZBED3 P37_P38insTP 0.003 0.005 0 0 3 2 0 0 0 0 0 0 55933 chr15 65804838 65804838 C T rs61744938 DPP8 Synonymous SNV A18A 0.026 0.023 0.02 9 31 9 0.023 6 1 0 0 0 16.05 55934 chr20 25187224 25187224 C A rs142436071 ENTPD6 Nonsynonymous SNV Q18K 0.01 0.005 0.02 6 12 2 0.015 6 0 0 0 0 1.961 55935 chr15 66170128 66170128 T C rs11556462 RAB11A Synonymous SNV L89L 0.008 0.008 0.003 3 9 3 0.008 1 1 0 0 0 1.182 55936 chr20 25282967 25282967 C T rs746748 ABHD12 Nonsynonymous SNV A349T 0.055 0.031 0.061 19 64 12 0.049 18 0 0 0 0 Benign/Likely benign 23.1 55937 chr16 56920969 56920969 C T rs5803 SLC12A3 Synonymous SNV A714A 0.083 0.107 0.129 30 98 41 0.077 38 4 1 0 1 Benign/Likely benign 14.68 55938 chr16 56928519 56928519 C T rs5804 SLC12A3 Synonymous SNV G875G 0.086 0.109 0.129 31 101 42 0.079 38 4 1 1 1 Benign/Likely benign 15.61 55939 chr16 56936319 56936319 C T rs12708965 SLC12A3 Nonsynonymous SNV R928C 0.03 0.023 0.024 14 35 9 0.036 7 0 0 0 2 Benign/Likely benign 35 55940 chr15 74315358 74315358 C T rs17849259 PML Synonymous SNV A264A 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 12.65 55941 chr15 66612915 66612915 A G DIS3L Nonsynonymous SNV R265G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 55942 chr16 56938244 56938244 G A rs12708966 MIR6863 0.03 0.023 0.024 14 35 9 0.036 7 0 0 0 2 3.324 55943 chr16 19087167 19087167 C T rs34688983 COQ7 Synonymous SNV Y126Y 0.027 0.047 0.024 13 32 18 0.033 7 0 0 1 1 Benign 11.77 55944 chr16 57007353 57007353 C T rs5883 CETP Synonymous SNV F287F 0.046 0.044 0.088 18 54 17 0.046 26 2 0 2 0 Benign 10.28 55945 chr4 187510319 187510319 T C rs34174591 FAT1 Synonymous SNV Q4398Q 0.031 0.018 0.02 9 36 7 0.023 6 0 0 0 0 0.016 55946 chr15 66850204 66850204 A G rs16953566 LCTL Synonymous SNV L87L 0.025 0.018 0.02 7 29 7 0.018 6 1 0 0 0 0.087 55947 chr16 57180158 57180158 C A rs2279407 CPNE2 Synonymous SNV R488R 0.022 0.013 0.024 4 26 5 0.01 7 0 0 1 0 15.27 55948 chr15 67555487 67555487 G C rs62014646 IQCH Nonsynonymous SNV V68L 0.008 0.013 0.003 2 9 5 0.005 1 0 0 0 0 18.2 55949 chr16 19702744 19702744 C T rs141552703 VPS35L Nonsynonymous SNV T773M 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 24.2 55950 chr4 187527314 187527314 T C rs74424517 FAT1 Synonymous SNV R3420R 0.031 0.018 0.017 9 36 7 0.023 5 0 0 0 0 Benign 1.479 55951 chr16 2051060 2051060 T A rs61743532 ZNF598 Synonymous SNV G382G 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 0.435 55952 chr5 5209210 5209210 G A rs16875054 ADAMTS16 Nonsynonymous SNV A486T 0.037 0.044 0.037 21 43 17 0.054 11 0 1 0 0 16.06 55953 chr15 68609647 68609647 G T rs2271725 ITGA11 Nonsynonymous SNV Q891K 0.022 0.018 0.031 12 26 7 0.031 9 0 0 0 0 0.521 55954 chr16 2024947 2024947 G A rs12921076 TBL3 Synonymous SNV P161P 0.003 0.005 0.007 8 3 2 0.021 2 0 0 0 1 Benign 12.14 55955 chr4 71654620 71654620 C T rs757481318 RUFY3 Nonsynonymous SNV A390V 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 34 55956 chr16 72130103 72130103 C G rs35794819 DHX38 Nonsynonymous SNV T16S 0.009 0.005 0.02 4 11 2 0.01 6 0 0 0 0 8.177 55957 chr20 306733 306733 G A rs73071018 SOX12 Synonymous SNV R55R 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 6.373 55958 chr20 30777860 30777860 A G rs11907235 TSPY26P 0 0 0.486 0 0 0 0 143 0 0 43 0 7.527 55959 chr15 75641390 75641390 A G NEIL1 Synonymous SNV S134S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.162 55960 chr5 6742686 6742686 G A rs537967470 TENT4A Synonymous SNV A364A 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 14.98 55961 chr20 31097860 31097860 A G rs293565 LOC101929698 0.045 0.039 0.085 13 53 15 0.033 25 6 1 1 1 8.302 55962 chr20 31097877 31097877 T C rs293566 LOC101929698 0 0 0.269 0 0 0 0 79 0 0 7 0 3.541 55963 chr20 31196471 31196471 A G rs8114375 NOL4L-DT 0 0 0.463 0 0 0 0 136 0 0 35 0 0.06 55964 chr16 72821594 72821602 GCCGCCGCC - rs780140830 ZFHX3 G2611_G2613del 0.023 0.026 0.027 10 27 10 0.026 8 0 0 0 0 55965 chr15 70350607 70350607 C T rs2291981 TLE3 Synonymous SNV G258G 0.016 0.016 0.01 12 19 6 0.031 3 1 1 0 0 10.52 55966 chr16 2107113 2107113 G A rs45502703 TSC2 Nonsynonymous SNV R61Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 55967 chr20 31549237 31549237 G A rs369072708 EFCAB8 Nonsynonymous SNV R1230Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.434 55968 chr16 20648076 20648076 G T rs61739414 ACSM1 Synonymous SNV L428L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.613 55969 chr5 9052140 9052140 T C rs199709959 SEMA5A Nonsynonymous SNV E897G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 21.9 55970 chr20 31890802 31890802 T C rs147404662 BPIFB1 Synonymous SNV H354H 0.003 0.003 0.014 3 3 1 0.008 4 0 0 0 0 0.004 55971 chr16 20948142 20948142 A G rs140126023 DNAH3 Synonymous SNV N3850N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.056 55972 chr16 602481 602481 C T rs146988309 CAPN15 Synonymous SNV C896C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.91 55973 chr16 75200807 75200807 T C rs144579719 ZFP1 Nonsynonymous SNV F52S 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 7.668 55974 chr15 78911230 78911230 C T rs8192475 CHRNA3 Nonsynonymous SNV R37H 0.033 0.044 0.024 12 39 17 0.031 7 0 0 0 0 29.2 55975 chr16 2286876 2286876 C A rs191517595 DNASE1L2 Nonsynonymous SNV A20D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.22 55976 chr16 22128153 22128153 T G rs143979988 VWA3A Nonsynonymous SNV F297V 0.009 0.003 0.003 5 10 1 0.013 1 0 0 0 0 0.001 55977 chr15 78923505 78923505 G A rs12914008 CHRNB4 Nonsynonymous SNV T91I 0.025 0.044 0.017 11 29 17 0.028 5 0 0 0 0 23.5 55978 chr16 22142942 22142942 C T rs377674494 VWA3A Synonymous SNV N588N 0.004 0 0 4 5 0 0.01 0 0 0 0 0 11.6 55979 chr20 33577660 33577660 C G rs747363710 MYH7B Nonsynonymous SNV P611A 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 55980 chr15 79603654 79603654 C G rs151007867 TMED3 Synonymous SNV A21A 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 11.61 55981 chr5 13914743 13914743 A T rs140782270 DNAH5 Nonsynonymous SNV N402K 0.014 0.021 0.017 6 16 8 0.015 5 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 55982 chr16 67469647 67469647 T G HSD11B2 Nonsynonymous SNV C128G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 55983 chr15 79750419 79750419 A T rs117500630 MINAR1 Nonsynonymous SNV I644L 0.014 0.01 0.003 4 17 4 0.01 1 0 0 0 0 0.013 55984 chr5 16701717 16701717 C T rs149110 MYO10 Synonymous SNV R929R 0.023 0.018 0.024 6 27 7 0.015 7 1 1 1 0 12.72 55985 chr15 80472526 80472526 C T rs11555096 FAH Nonsynonymous SNV R341W 0.009 0.003 0.02 4 11 1 0.01 6 0 0 1 0 Benign/Likely benign, other 29.4 55986 chr20 34173046 34173046 C T rs1536147 FER1L4 0 0 0.612 0 0 0 0 180 0 0 54 0 8.526 55987 chr20 35507558 35507558 G A rs3748460 TLDC2 Nonsynonymous SNV G102R 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 23.4 55988 chr16 23200809 23200809 C T rs62639702 SCNN1G Synonymous SNV S145S 0.022 0.018 0.02 13 26 7 0.033 6 0 0 1 0 Benign/Likely benign 10.57 55989 chr20 3562866 3562866 A G rs118065662 ATRN Nonsynonymous SNV N761D 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 24 55990 chr20 3564706 3564706 T C ATRN Nonsynonymous SNV W860R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 55991 chr5 26885964 26885964 T G rs35328154 CDH9 Synonymous SNV A547A 0.025 0.016 0.014 7 29 6 0.018 4 0 0 0 0 8.341 55992 chr15 82564060 82564060 A G rs149445041 SAXO2 Nonsynonymous SNV Y57C 0.003 0.008 0.007 3 3 3 0.008 2 0 0 0 0 15.38 55993 chr5 31552951 31552951 G A rs139349218 C5orf22 Nonsynonymous SNV R424H 0.004 0 0 0 5 0 0 0 0 0 0 0 10.83 55994 chr5 6604338 6604338 T C rs780042180 NSUN2 Nonsynonymous SNV M589V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.246 55995 chr16 80642046 80642046 G C rs181063533 CDYL2 Synonymous SNV T435T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.704 55996 chr16 69184602 69184602 A G UTP4 Nonsynonymous SNV I218V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.469 55997 chr16 80718946 80718946 G A rs146891288 CDYL2 Synonymous SNV T35T 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 10.5 55998 chr16 2521796 2521796 G A rs139072382 NTN3 Nonsynonymous SNV D32N 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 19.83 55999 chr20 3687141 3687141 C A rs150358287 SIGLEC1 Stop gain E88X 0.015 0.018 0.014 2 18 7 0.005 4 0 0 0 0 26.4 56000 chr20 368866 368866 A G rs534352037 TRIB3 Nonsynonymous SNV Y71C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 56001 chr16 27472772 27472772 C T rs2228248 GTF3C1 Nonsynonymous SNV E2052K 0.156 0.151 0.143 67 183 58 0.172 42 14 5 5 5 23.6 56002 chr16 27474910 27474910 A G rs12919017 GTF3C1 Nonsynonymous SNV F1934S 0.157 0.154 0.143 71 184 59 0.182 42 14 6 5 6 2.119 56003 chr16 71220744 71220744 T G rs751399376 HYDIN Nonsynonymous SNV N46H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.29 56004 chr16 27692835 27692835 G A rs12923861 KIAA0556 Synonymous SNV Q308Q 0.149 0.146 0.129 67 175 56 0.172 38 14 4 4 5 2.678 56005 chr15 85341848 85341848 C T rs146530529 ZNF592 Synonymous SNV D922D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.22 56006 chr16 27720201 27720201 C T rs12930355 KIAA0556 Nonsynonymous SNV T522M 0.149 0.146 0.129 67 175 56 0.172 38 14 4 4 5 6.535 56007 chr16 27752135 27752135 C T rs12447120 KIAA0556 Synonymous SNV D839D 0.152 0.146 0.133 66 178 56 0.169 39 15 4 4 5 10.62 56008 chr16 71220794 71220794 G T rs78964247 HYDIN Nonsynonymous SNV T29K 0.009 0.008 0.003 3 10 3 0.008 1 1 0 0 0 24.7 56009 chr4 86643105 86643105 T C ARHGAP24 Nonsynonymous SNV F83S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.83 56010 chr16 30381303 30381303 C G rs12930787 TBC1D10B Nonsynonymous SNV E68Q 0.066 0.107 0.194 32 77 41 0.082 57 21 14 13 7 0.002 56011 chr20 39831546 39831546 C T rs41277006 ZHX3 Nonsynonymous SNV E671K 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 16.97 56012 chr16 81320924 81320924 A G rs755750511 BCO1 Nonsynonymous SNV K443E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 56013 chr5 96358063 96358063 C T rs368076075 LNPEP Synonymous SNV G812G 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 13.2 56014 chr5 14488185 14488196 GCTCCTTCTGGA - TRIO F2485_S2488del 0 0 0 2 0 0 0.005 0 0 0 0 0 56015 chr5 35670303 35670303 G A rs34708521 SPEF2 Nonsynonymous SNV D500N 0.051 0.055 0.037 18 60 21 0.046 11 4 0 1 0 Benign 24.9 56016 chr16 813248 813248 C G MSLN Nonsynonymous SNV S34W 0 0.003 0 0 0 1 0 0 0 0 0 0 8.24 56017 chr16 2854507 2854507 T G rs61747737 PRSS41 Nonsynonymous SNV F233C 0.042 0.029 0.048 25 49 11 0.064 14 3 1 2 0 14.85 56018 chr16 817407 817407 C T rs72773454 MSLN Synonymous SNV L519L 0.024 0.016 0.054 9 28 6 0.023 16 0 0 0 0 10.67 56019 chr5 19571783 19571783 A C rs78589740 CDH18 Synonymous SNV P386P 0.009 0.003 0.017 5 11 1 0.013 5 1 0 0 0 Benign 0.047 56020 chr5 19721517 19721517 G A rs147239335 CDH18 Synonymous SNV S194S 0.009 0.003 0.014 5 11 1 0.013 4 1 0 0 0 Benign 11.78 56021 chr16 81922781 81922781 A T rs45443101 PLCG2 Nonsynonymous SNV H257L 0.026 0.026 0.02 15 31 10 0.038 6 1 0 0 1 Benign 7.36 56022 chr5 98193990 98193990 G A rs138351327 CHD1 Nonsynonymous SNV H1561Y 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 16.88 56023 chr16 30990895 30990895 C G SETD1A Nonsynonymous SNV P1263R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.13 56024 chr16 820215 820215 T A rs74656628 MIR662 0.019 0.008 0.054 8 22 3 0.021 16 0 0 1 0 6.629 56025 chr16 31051082 31051082 C T STX4 Synonymous SNV V206V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 12.06 56026 chr5 32090279 32090279 G C rs750611301 PDZD2 Nonsynonymous SNV S2242T 0.003 0 0 5 4 0 0.013 0 0 0 0 0 3.499 56027 chr16 72831111 72831111 G C rs79037957 ZFHX3 Nonsynonymous SNV L910V 0.013 0.013 0.024 6 15 5 0.015 7 0 0 0 1 17.41 56028 chr16 837155 837155 G A rs780813075 RPUSD1 Nonsynonymous SNV R111W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 56029 chr16 72993841 72993841 G A rs774660681 ZFHX3 Synonymous SNV A68A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 1.584 56030 chr20 43280227 43280227 C T rs73598374 ADA Nonsynonymous SNV D8N 0.033 0.039 0.105 21 39 15 0.054 31 3 2 2 2 Benign/Likely benign 17.96 56031 chr16 83992961 83992961 G A rs143490160 OSGIN1 Nonsynonymous SNV R55K 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 9.899 56032 chr5 38924525 38924525 T C rs146032550 OSMR Synonymous SNV A624A 0.027 0.026 0.01 9 32 10 0.023 3 0 0 0 0 12.23 56033 chr16 30492823 30492823 C T rs1064524 ITGAL Nonsynonymous SNV R131W 0.038 0.026 0.027 24 45 10 0.062 8 1 0 0 0 16.58 56034 chr15 80452172 80452172 G C rs33929922 FAH Synonymous SNV L89L 0.072 0.076 0.065 27 84 29 0.069 19 4 2 1 1 Benign 1.386 56035 chr16 30615733 30615733 G T rs140674594 ZNF689 Nonsynonymous SNV T452K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.5 56036 chr16 30680528 30680528 T C rs750199842 FBRS Synonymous SNV A835A 0.008 0.003 0.003 9 9 1 0.023 1 0 0 0 0 0.001 56037 chr16 30772988 30772988 C T rs201918052 CCDC189 Nonsynonymous SNV A28T 0.023 0.023 0.007 12 27 9 0.031 2 0 0 0 0 1.191 56038 chr20 43837144 43837144 T C rs7270676 SEMG1 Synonymous SNV N402N 0.074 0.063 0.078 21 87 24 0.054 23 5 3 1 1 0.014 56039 chr4 99393703 99393703 G A rs201278827 TSPAN5 Synonymous SNV S259S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 11.57 56040 chr20 43940495 43940495 A G rs61759891 RBPJL Synonymous SNV E115E 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 0.088 56041 chr20 43942676 43942676 T C rs2076026 RBPJL Synonymous SNV A253A 0.032 0.031 0.031 18 38 12 0.046 9 2 0 0 3 Benign 7.333 56042 chr16 75573952 75573952 C T rs149888762 TMEM231 Synonymous SNV V350V 0.018 0.008 0.02 5 21 3 0.013 6 0 0 0 0 Conflicting interpretations of pathogenicity 10.74 56043 chr16 3085326 3085326 C T rs71386699 BICDL2 Nonsynonymous SNV E58K 0.014 0.016 0.014 12 17 6 0.031 4 0 0 0 0 28.6 56044 chr5 41049480 41049480 T A rs17198125 MROH2B Nonsynonymous SNV E468V 0.058 0.063 0.051 25 68 24 0.064 15 2 1 0 1 7.101 56045 chr15 89400080 89400080 A G rs35546357 ACAN Nonsynonymous SNV T1422A 0.02 0.013 0.01 17 24 5 0.044 3 0 0 0 0 Likely benign 0.014 56046 chr5 35705844 35705844 A C rs72738833 SPEF2 Nonsynonymous SNV K867Q 0.031 0.01 0.037 10 36 4 0.026 11 1 0 0 0 1.724 56047 chr5 41850155 41850155 C T OXCT1 Nonsynonymous SNV A181T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.1 56048 chr5 35727783 35727783 C T rs116248955 SPEF2 Nonsynonymous SNV P974L 0.009 0.008 0.024 7 10 3 0.018 7 0 0 0 0 24 56049 chr5 43245886 43245886 A T rs752186291 NIM1K Synonymous SNV A3A 0.006 0.018 0 8 7 7 0.021 0 0 0 0 0 0.784 56050 chr16 84256619 84256619 C T rs17736370 KCNG4 Nonsynonymous SNV C255Y 0.068 0.102 0.119 28 80 39 0.072 35 1 2 1 0 23.2 56051 chr20 44520579 44520579 C G rs742035 CTSA Synonymous SNV P73P 0.051 0.031 0.061 15 60 12 0.038 18 1 0 1 1 Benign 16.31 56052 chr16 78466437 78466437 C G rs3764340 WWOX Nonsynonymous SNV P169A 0.059 0.052 0.061 33 69 20 0.085 18 2 1 0 2 Benign 13.29 56053 chr20 44577697 44577697 G C ZNF335 Synonymous SNV A1308A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.221 56054 chr15 89450003 89450003 G A rs2271714 MFGE8 Synonymous SNV L88L 0.038 0.042 0.044 11 45 16 0.028 13 1 0 1 0 11.02 56055 chr16 84482279 84482279 G A rs62640930 ATP2C2 Synonymous SNV G397G 0.01 0.016 0.01 4 12 6 0.01 3 0 0 0 0 7.586 56056 chr20 45194904 45194904 C G rs202391 SLC13A3 Synonymous SNV A436A 0.087 0.073 0.095 29 102 28 0.074 28 6 2 1 0 14.49 56057 chr5 52379179 52379179 A T rs150997093 ITGA2 Nonsynonymous SNV T1052S 0.009 0.023 0 8 11 9 0.021 0 0 0 0 0 Benign/Likely benign 8.023 56058 chr20 45717957 45717957 G A rs143429707 EYA2 Synonymous SNV G247G 0.012 0.008 0.014 3 14 3 0.008 4 0 0 0 0 10.97 56059 chr15 90172778 90172778 G C rs142032413 KIF7 Nonsynonymous SNV H1115Q 0.012 0.003 0.01 5 14 1 0.013 3 0 0 0 0 Benign/Likely benign 24.6 56060 chr4 103556169 103556169 C T rs150554352 MANBA Nonsynonymous SNV V731M 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.36 56061 chr20 45717967 45717967 G T rs780344200 EYA2 Nonsynonymous SNV G251C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 56062 chr16 84623789 84623789 C T rs146053531 COTL1 Synonymous SNV T80T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.97 56063 chr16 3187372 3187372 G C rs143487323 ZNF213 Nonsynonymous SNV E31Q 0.006 0.003 0 6 7 1 0.015 0 0 0 0 0 23.6 56064 chr16 85141661 85141661 G A rs17200833 FAM92B Synonymous SNV Y100Y 0.136 0.128 0.126 58 160 49 0.149 37 10 2 3 3 7.551 56065 chr15 90764702 90764702 C T rs61761864 SEMA4B Nonsynonymous SNV T156I 0.005 0 0.003 2 6 0 0.005 1 1 0 0 0 12.22 56066 chr5 42759295 42759295 C T rs200364347 CCDC152 Synonymous SNV F24F 0.021 0.016 0.007 10 25 6 0.026 2 0 0 0 0 15.33 56067 chr5 42783581 42783581 T C rs116791965 CCDC152 Synonymous SNV Y111Y 0.005 0.003 0.014 7 6 1 0.018 4 0 0 0 0 0.582 56068 chr15 91025250 91025250 C T rs188700089 IQGAP1 Nonsynonymous SNV R1130W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 56069 chr16 82131813 82131813 G A rs8191245 HSD17B2 Synonymous SNV S312S 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 Benign 10.42 56070 chr16 8739977 8739977 A G rs1060541 METTL22 Nonsynonymous SNV I398V 0.019 0.013 0.003 7 22 5 0.018 1 0 0 0 0 0.979 56071 chr5 55168257 55168257 A G rs148785939 IL31RA Synonymous SNV T125T 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 Benign 0.063 56072 chr16 4405299 4405299 G C rs150440383 CORO7, CORO7-PAM16 Nonsynonymous SNV D835E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.5 56073 chr4 109810400 109810400 C G rs202026836 COL25A1 Nonsynonymous SNV E314Q 0.008 0.003 0 0 9 1 0 0 0 0 0 0 25 56074 chr16 839600 839600 G A rs61745756 CHTF18 Nonsynonymous SNV R164H 0.033 0.039 0.068 12 39 15 0.031 20 1 0 2 0 10.39 56075 chr20 49411689 49411689 G T rs117388674 BCAS4 Synonymous SNV L53L 0.03 0.018 0.041 14 35 7 0.036 12 2 0 1 0 8.424 56076 chr16 4465714 4465714 A T rs79615494 CORO7 0.046 0.036 0 11 54 14 0.028 0 0 0 0 1 2.793 56077 chr5 56233490 56233490 G A rs35386984 MIER3 Synonymous SNV D122D 0.08 0.104 0.041 31 94 40 0.079 12 2 2 1 0 11.35 56078 chr5 60240770 60240770 C T rs149130938 ERCC8 Synonymous SNV E22E 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.13 56079 chr16 84212779 84212779 G A rs2230131 TAF1C Nonsynonymous SNV P461L 0.118 0.099 0.126 44 139 38 0.113 37 7 2 2 1 11.88 56080 chr16 4519586 4519586 G A rs11862204 NMRAL1 Synonymous SNV I3I 0.035 0.029 0.027 7 41 11 0.018 8 0 0 0 1 3.806 56081 chr16 4556911 4556911 G A rs25685 HMOX2 Synonymous SNV S5S 0.034 0.031 0.02 7 40 12 0.018 6 0 0 0 1 14.32 56082 chr16 84212928 84212928 G A rs3743642 TAF1C Synonymous SNV P411P 0.118 0.099 0.129 46 139 38 0.118 38 7 2 2 1 7.716 56083 chr16 4644390 4644392 AGG - rs139232890 C16orf96 E970del 0.037 0.034 0.014 15 43 13 0.038 4 0 0 0 1 56084 chr16 4649300 4649300 C G rs7195763 C16orf96 Nonsynonymous SNV S1048C 0.043 0.034 0.024 15 51 13 0.038 7 0 0 0 1 11.76 56085 chr5 56219641 56219641 C G rs750946349 MIER3 Nonsynonymous SNV V363L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 18.5 56086 chr5 56233423 56233423 A G rs759344295 MIER3 Nonsynonymous SNV F145L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 26.9 56087 chr15 89424765 89424765 C T rs140982817 HAPLN3 Nonsynonymous SNV G106R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.4 56088 chr20 54970643 54970643 A T CSTF1 Nonsynonymous SNV Q12L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 56089 chr4 113568544 113568544 G A rs62317770 LARP7 Nonsynonymous SNV R279Q 0.044 0.021 0.034 14 52 8 0.036 10 0 0 0 0 Likely benign 18.7 56090 chr5 68578806 68578806 G A rs143293466 CCDC125 Nonsynonymous SNV A429V 0.006 0 0.01 4 7 0 0.01 3 0 0 0 0 29.3 56091 chr15 89848573 89848573 A T rs142756279 FANCI Nonsynonymous SNV D1003V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 27.2 56092 chr20 56087800 56087800 T C rs41305825 CTCFL Nonsynonymous SNV M185V 0.071 0.06 0.075 33 83 23 0.085 22 4 1 0 3 0.002 56093 chr16 1035291 1035291 G A rs201602067 SOX8 Nonsynonymous SNV A416T 0.007 0.01 0.007 5 8 4 0.013 2 0 0 0 0 9.174 56094 chr16 4933690 4933690 G A rs140094738 PPL Nonsynonymous SNV R1656C 0.005 0 0 5 6 0 0.013 0 0 0 0 0 33 56095 chr16 88697656 88697656 C T rs759913601 ZC3H18 Synonymous SNV A937A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.89 56096 chr5 68487643 68487643 A T rs149837292 CENPH Nonsynonymous SNV Q52H 0.008 0.008 0 6 9 3 0.015 0 0 0 0 1 18.04 56097 chr16 11260273 11260273 G A rs72650686 CLEC16A Synonymous SNV Q890Q 0 0 0 2 0 0 0.005 0 0 0 0 0 10.05 56098 chr16 48221137 48221137 T C rs41280943 ABCC11 Nonsynonymous SNV M970V 0.015 0.01 0.01 12 18 4 0.031 3 0 0 0 0 Benign 0.001 56099 chr16 50118125 50118125 G A rs34805615 HEATR3 Nonsynonymous SNV G174R 0.021 0.013 0.01 9 25 5 0.023 3 0 0 0 0 9.355 56100 chr16 50368663 50368663 G A rs1062348 BRD7 Synonymous SNV A282A 0.052 0.099 0.058 25 61 38 0.064 17 2 2 1 0 11.72 56101 chr16 84900645 84900645 G A rs149615348 CRISPLD2 Nonsynonymous SNV M284I 0.004 0.003 0.02 4 5 1 0.01 6 0 0 0 0 23.9 56102 chr16 88782217 88782217 G A rs35544968 PIEZO1 Synonymous SNV F2454F 0.171 0.133 0.139 60 201 51 0.154 41 13 2 3 3 Benign 8.721 56103 chr5 135385172 135385172 C T rs34334509 TGFBI Synonymous SNV N272N 0.025 0.021 0.02 16 29 8 0.041 6 0 0 0 1 Likely benign 9.05 56104 chr20 56822536 56822536 G A rs4811972 PPP4R1L 0 0 0.531 0 0 0 0 156 0 0 43 0 10.97 56105 chr16 855449 855449 C T rs184383320 PRR25 Stop gain R3X 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 26 56106 chr16 88789666 88789666 - CCTGCT rs11281795 PIEZO1 Q1468_A1469insEQ 0.171 0.135 0.126 59 201 52 0.151 37 17 2 4 3 56107 chr20 57429541 57429541 C G rs200430001 GNAS Nonsynonymous SNV P345R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.86 56108 chr5 72383471 72383471 G A rs147677243 FCHO2 Synonymous SNV T734T 0.029 0.018 0.024 16 34 7 0.041 7 1 1 0 1 Benign 12.07 56109 chr5 72419287 72419287 C T rs35987724 TMEM171 Synonymous SNV G29G 0.038 0.042 0.037 13 45 16 0.033 11 2 0 0 0 13.71 56110 chr16 85954866 85954866 A G IRF8 Nonsynonymous SNV E216G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.7 56111 chr20 57429548 57429574 GATCCCGACTCCGGGACAGCACCAGCC - rs587778382 GNAS P349_I357del 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 56112 chr20 57430006 57430006 C T rs747759524 GNAS Nonsynonymous SNV A500V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 56113 chr5 73048875 73048875 A G rs202122468 ARHGEF28 Nonsynonymous SNV N108S 0.006 0.01 0.003 9 7 4 0.023 1 0 0 0 0 Uncertain significance 0.063 56114 chr16 52484384 52484384 G A rs147678931 TOX3 Synonymous SNV T161T 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 6.586 56115 chr4 122735142 122735142 A G rs1803183 EXOSC9 Nonsynonymous SNV I366V 0.032 0.029 0.037 6 38 11 0.015 11 1 0 0 0 12.03 56116 chr4 122741807 122741807 C T rs769243 CCNA2 Synonymous SNV Q228Q 0.037 0.031 0.044 7 44 12 0.018 13 1 0 0 0 12.21 56117 chr16 86588318 86588318 C T rs200273062 MTHFSD Nonsynonymous SNV G19D 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 4.072 56118 chr20 57766389 57766389 G A rs760841956 ZNF831 Synonymous SNV V105V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.188 56119 chr20 58883534 58883534 T C rs6513496 MIR646 0 0 0.231 0 0 0 0 68 0 0 8 0 2.183 56120 chr16 53468630 53468630 C T rs79388287 RBL2 Synonymous SNV S54S 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 Benign 16.67 56121 chr4 123192240 123192240 A C rs45608936 KIAA1109 Nonsynonymous SNV S2521R 0.013 0.016 0.003 5 15 6 0.013 1 0 0 0 0 19.99 56122 chr16 53528079 53528079 T C rs9927310 AKTIP Synonymous SNV Q227Q 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 1.632 56123 chr20 5937833 5937833 A G rs16991591 MCM8 Nonsynonymous SNV N183S 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Benign 6.378 56124 chr16 53532393 53532393 G A rs751715236 AKTIP Nonsynonymous SNV P53L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 21 56125 chr5 74651321 74651321 A T rs777278395 HMGCR Synonymous SNV I565I 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 1.038 56126 chr20 6025245 6025245 A G rs143224850 LRRN4 Synonymous SNV T314T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.412 56127 chr16 55562359 55562359 G A rs61739979 LPCAT2 Nonsynonymous SNV V128I 0.019 0.013 0.037 7 22 5 0.018 11 0 0 1 0 Benign 17.73 56128 chr20 60294246 60294246 - T rs11440327 LOC100128310 0 0 0.364 0 0 0 0 107 0 0 14 0 56129 chr16 87678165 87678165 G A rs3751725 JPH3 Synonymous SNV S228S 0.135 0.13 0.119 49 159 50 0.126 35 8 2 1 5 11.09 56130 chr20 60294388 60294388 C T rs6089489 LOC100128310 0 0 0.378 0 0 0 0 111 0 0 19 0 14.24 56131 chr20 6032882 6032882 C T rs6053858 LRRN4 Synonymous SNV G188G 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 8.988 56132 chr5 75884759 75884759 C A rs202016097 IQGAP2 Nonsynonymous SNV P113T 0.002 0 0 4 2 0 0.01 0 0 0 0 0 29.6 56133 chr5 74091908 74091908 C T rs181875341 FAM169A Nonsynonymous SNV A403T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 5.922 56134 chr16 53674978 53674978 T C rs144313291 RPGRIP1L Synonymous SNV V975V 0.021 0.01 0.003 5 25 4 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.713 56135 chr16 88495367 88495367 G A rs28723506 ZNF469 Nonsynonymous SNV G497R 0.125 0.117 0.136 50 147 45 0.128 40 12 4 3 2 Benign/Likely benign 0.001 56136 chr16 89293550 89293550 A C rs377516187 ZNF778 Nonsynonymous SNV E257A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 56137 chr16 89294595 89294595 C T rs74466939 ZNF778 Synonymous SNV I605I 0.06 0.044 0.085 19 70 17 0.049 25 5 1 0 1 12.12 56138 chr5 74807615 74807615 A C rs202137230 CERT1 Nonsynonymous SNV F19V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.07 56139 chr16 89347612 89347612 C T rs75362060 ANKRD11 Nonsynonymous SNV A1780T 0.021 0.016 0.024 10 25 6 0.026 7 1 0 0 0 Benign 0.024 56140 chr16 14340628 14340628 C G rs754671358 MRTFB Nonsynonymous SNV P493R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 56141 chr4 128753930 128753930 T C rs150262621 HSPA4L Synonymous SNV N766N 0.011 0.013 0.003 2 13 5 0.005 1 0 0 0 0 0.002 56142 chr16 8953030 8953030 C T rs2231706 CARHSP1 Synonymous SNV S52S 0.012 0.016 0.017 4 14 6 0.01 5 0 0 0 0 13.16 56143 chr4 128815030 128815030 T C rs13129689 PLK4 Synonymous SNV N820N 0.022 0.016 0.02 12 26 6 0.031 6 0 0 0 0 0.869 56144 chr16 56906626 56906626 C T rs2229209 SLC12A3 Synonymous SNV F341F 0.016 0.01 0.003 8 19 4 0.021 1 0 0 0 0 Benign 14.72 56145 chr20 60968547 60968547 A G rs41284972 CABLES2 Nonsynonymous SNV S277P 0.065 0.052 0.058 11 76 20 0.028 17 1 1 2 0 7.203 56146 chr20 61050379 61050379 T G rs6142775 GATA5 Nonsynonymous SNV T67P 0.14 0.138 0.129 56 164 53 0.144 38 14 9 4 7 3.744 56147 chr20 61143945 61143945 T G rs3934573 MIR1-1HG-AS1 0 0 0.5 0 0 0 0 147 0 0 39 0 0.735 56148 chr20 61143951 61143951 G C rs45612436 MIR1-1HG-AS1 0 0 0.255 0 0 0 0 75 0 0 12 0 0.11 56149 chr20 61144012 61144012 G A rs45553940 MIR1-1HG-AS1 0 0 0.255 0 0 0 0 75 0 0 12 0 3.145 56150 chr5 78610361 78610361 C T rs61751239 JMY Synonymous SNV P782P 0.018 0.01 0.017 11 21 4 0.028 5 0 0 0 0 8.6 56151 chr16 57714213 57714213 C T rs373345629 ADGRG3 Nonsynonymous SNV T115M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.3 56152 chr20 61440971 61440971 G A rs1048792 OGFR Synonymous SNV T118T 0.049 0.044 0.054 21 58 17 0.054 16 1 1 2 0 14.92 56153 chr16 88778510 88778510 G A rs72811472 CTU2 Nonsynonymous SNV A129T 0.129 0.172 0.173 80 152 66 0.205 51 9 6 6 2 2.183 56154 chr20 61511626 61511626 C T rs41282982 DIDO1 Synonymous SNV R1894R 0.06 0.07 0.054 24 70 27 0.062 16 2 1 1 1 11.99 56155 chr4 140394221 140394221 C T RAB33B Nonsynonymous SNV P211S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 56156 chr20 61511856 61511856 G A rs774425979 DIDO1 Nonsynonymous SNV P1818S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 56157 chr16 88779032 88779032 G C rs2290896 CTU2 Synonymous SNV V65V 0.111 0.164 0.129 69 130 63 0.177 38 9 6 6 2 10.1 56158 chr16 15781238 15781238 G A rs771008516 NDE1 Synonymous SNV T131T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 56159 chr5 79735832 79735832 C T rs114761271 ZFYVE16 Synonymous SNV C800C 0.01 0.005 0.007 2 12 2 0.005 2 0 0 0 0 11.45 56160 chr20 61711649 61711649 C T rs77448481 LINC01749 0 0 0.051 0 0 0 0 15 0 0 0 0 0.372 56161 chr17 10295914 10295914 T G rs111567318 MYH8 Nonsynonymous SNV E1838A 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Benign/Likely benign 28.2 56162 chr20 61870167 61870167 C A rs744591 MIR3196 0 0 0.395 0 0 0 0 116 0 0 33 0 3.08 56163 chr20 61944156 61944156 G A rs199754091 COL20A1 Nonsynonymous SNV S649N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20.4 56164 chr5 140720954 140720954 T C rs66823521 PCDHGA2 Nonsynonymous SNV F806L 0.153 0.161 0.133 73 180 62 0.187 39 10 6 3 1 0.014 56165 chr5 79966029 79966029 G A rs1805355 MSH3 Synonymous SNV P231P 0.026 0.026 0.085 17 31 10 0.044 25 0 0 1 0 Benign 10.51 56166 chr5 140723835 140723835 C T rs11575947 PCDHGA3 Nonsynonymous SNV P79S 0.137 0.146 0.126 69 161 56 0.177 37 7 4 3 1 0.002 56167 chr5 140739874 140739874 G A rs13171859 PCDHGB2 Nonsynonymous SNV V58I 0.141 0.151 0.129 71 166 58 0.182 38 8 5 3 2 1.263 56168 chr20 61998443 61998443 T C rs6062905 LOC100130587 0 0 0.007 0 0 0 0 2 0 0 1 0 0.537 56169 chr5 140740233 140740233 C T rs79500662 PCDHGB2 Synonymous SNV Y177Y 0.018 0.026 0.007 8 21 10 0.021 2 0 0 0 0 0.045 56170 chr4 144621175 144621175 G A rs759999565 FREM3 Synonymous SNV G218G 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 3.158 56171 chr20 62044847 62044847 G A rs61737409 KCNQ2 Synonymous SNV A545A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 12.67 56172 chr20 62119708 62119708 G A rs372257864 EEF1A2 Synonymous SNV S445S 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign 13.95 56173 chr5 140769293 140769293 C T rs150721796 PCDHGB4 Synonymous SNV L614L 0.062 0.073 0.078 33 73 28 0.085 23 3 1 1 0 13.01 56174 chr16 602063 602063 C T rs9930306 CAPN15 Synonymous SNV S786S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.949 56175 chr17 10429052 10429052 G A rs61739663 MYH2 Synonymous SNV A1443A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 10.75 56176 chr16 1825605 1825605 C T rs139103048 EME2 Synonymous SNV D233D 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 10.14 56177 chr17 10538728 10538728 G A rs112569418 MYH3 Synonymous SNV Y1376Y 0.024 0.047 0.01 11 28 18 0.028 3 0 1 0 0 Benign 2.848 56178 chr17 10551910 10551910 G A rs16943604 MYH3 Synonymous SNV N233N 0.024 0.047 0.01 11 28 18 0.028 3 0 1 0 0 Benign 9.304 56179 chr17 10551919 10551919 G C rs147148934 MYH3 Synonymous SNV A230A 0.02 0.047 0.007 11 24 18 0.028 2 0 1 0 0 Benign/Likely benign 5.914 56180 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAG MYH3 T202_G203insSYPSWPPAEAQAQASALTLPSCQQEFCYEIKH 0.006 0.01 0 0 7 4 0 0 0 0 0 0 56181 chr16 66887317 66887317 C T rs144059543 CA7 Synonymous SNV D181D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.44 56182 chr16 67876788 67876796 CAGCAGCAA - rs758739417 THAP11 Q130_Q132del 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 56183 chr20 62197540 62197540 G A HELZ2 Stop gain Q310X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 32 56184 chr17 11757355 11757355 G A rs117483481 DNAH9 Synonymous SNV P3181P 0.003 0.005 0.014 0 4 2 0 4 0 0 1 0 Benign 6.74 56185 chr5 88047807 88047807 G A MEF2C Synonymous SNV H10H 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 6.553 56186 chr16 129423 129423 G T rs146600185 MPG 0.003 0 0 0 4 0 0 0 0 0 0 0 17.12 56187 chr20 62328267 62328267 C T rs2257440 TNFRSF6B Synonymous SNV C49C 0.2 0.198 0.187 84 235 76 0.215 55 19 7 3 10 10.91 56188 chr16 19621692 19621692 C T rs763905574 VPS35L Nonsynonymous SNV R7W 0 0 0 2 0 0 0.005 0 0 0 0 0 17 56189 chr16 68842734 68842734 C T rs200310662 CDH1 Nonsynonymous SNV R224C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 11.3 56190 chr20 62328453 62328453 T C rs2258056 TNFRSF6B Synonymous SNV R111R 0.2 0.201 0.187 84 235 77 0.215 55 19 7 3 10 0.294 56191 chr17 12656330 12656330 T C rs908695977 MYOCD Synonymous SNV A575A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.531 56192 chr17 12656417 12656417 T C rs28730824 MYOCD Synonymous SNV A604A 0.04 0.031 0.044 13 47 12 0.033 13 0 0 0 0 0.016 56193 chr20 62328742 62328742 C T rs909341 TNFRSF6B Synonymous SNV S162S 0.198 0.195 0.177 83 232 75 0.213 52 19 7 2 10 14.88 56194 chr20 62328829 62328829 C G rs1291205 TNFRSF6B Synonymous SNV T191T 0.201 0.201 0.18 83 236 77 0.213 53 20 7 3 10 8.408 56195 chr20 62574006 62574006 A C rs73147065 MIR647 0 0 0.007 0 0 0 0 2 0 0 0 0 4.281 56196 chr20 62664208 62664208 G T rs140112205 PRPF6 Nonsynonymous SNV E896D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.3 56197 chr16 1545589 1545589 T C rs141647559 TELO2 Nonsynonymous SNV V193A 0.011 0.003 0.003 0 13 1 0 1 0 0 0 0 Benign 14.09 56198 chr20 6759706 6759706 C T rs13037675 BMP2 Synonymous SNV D387D 0.031 0.042 0.048 12 36 16 0.031 14 0 0 0 0 Benign 8.123 56199 chr16 705873 705873 G A rs144333089 WDR90 Synonymous SNV S650S 0.019 0.023 0.007 11 22 9 0.028 2 0 0 0 0 7.151 56200 chr17 1540027 1540027 C T rs34297715 SCARF1 Nonsynonymous SNV A537T 0.037 0.039 0.041 16 44 15 0.041 12 1 1 0 0 15.55 56201 chr5 148626067 148626067 G A rs61999264 ABLIM3 Synonymous SNV S392S 0.017 0.023 0.031 11 20 9 0.028 9 0 0 0 0 13.25 56202 chr20 7864284 7864284 T C rs34249643 HAO1 Nonsynonymous SNV K357E 0.028 0.031 0.017 9 33 12 0.023 5 2 0 0 0 18.56 56203 chr5 94749725 94749725 G A rs550788124 FAM81B Nonsynonymous SNV R123H 0.002 0 0 6 2 0 0.015 0 0 0 0 0 23 56204 chr16 67701406 67701406 G A rs778341499 C16orf86 Nonsynonymous SNV G104S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 56205 chr17 1548956 1548956 - AGC rs142617742 SCARF1 L12_W13insL 0.026 0.021 0.024 8 31 8 0.021 7 0 0 0 0 56206 chr16 16259579 16259579 G A rs60975032 ABCC6 Synonymous SNV Y1069Y 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Benign 0.497 56207 chr16 90078022 90078022 T C rs77381714 DBNDD1 Star tloss M1? 0.035 0.021 0.031 9 41 8 0.023 9 3 0 0 0 1.665 56208 chr16 16276292 16276292 T C rs59593133 ABCC6 Nonsynonymous SNV I742V 0.043 0.057 0.027 18 51 22 0.046 8 2 0 0 0 Benign 0.007 56209 chr16 16276341 16276341 T A rs59757815 ABCC6 Synonymous SNV V725V 0.043 0.057 0.027 18 51 22 0.046 8 2 0 0 0 Benign 2.571 56210 chr16 16276345 16276345 C T rs58073789 ABCC6 Nonsynonymous SNV R724K 0.043 0.055 0.027 18 50 21 0.046 8 2 0 0 0 Benign 0.645 56211 chr21 15663705 15663706 AA - rs766948621 ABCC13 0 0 0.024 0 0 0 0 7 0 0 0 0 56212 chr16 71683759 71683759 G A rs142287063 PHLPP2 Synonymous SNV H935H 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 Benign 6.995 56213 chr5 96117477 96117477 A G rs142985224 ERAP1 Synonymous SNV Y789Y 0.002 0.003 0.003 6 2 1 0.015 1 0 0 0 0 Benign 3.229 56214 chr16 71884369 71884369 G T rs140112104 ATXN1L Nonsynonymous SNV L242F 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 12.43 56215 chr21 17443633 17443633 G A rs117994222 MIR99AHG 0 0 0.027 0 0 0 0 8 0 0 0 0 10.45 56216 chr5 86703952 86703952 A C rs753302898 CCNH Nonsynonymous SNV S69R 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 23.4 56217 chr21 28296457 28296457 T C rs367684090 ADAMTS5 Nonsynonymous SNV Q903R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 56218 chr17 17039613 17039613 A G rs147247641 MPRIP Synonymous SNV K227K 0.009 0.01 0.01 3 11 4 0.008 3 0 0 0 0 1.191 56219 chr16 72984595 72984595 C A rs2213978 ZFHX3 Nonsynonymous SNV A83S 0.012 0.01 0.007 8 14 4 0.021 2 0 0 0 0 24.3 56220 chr17 10534960 10534960 C T rs34393601 MYH3 Nonsynonymous SNV A1752T 0.02 0.01 0 8 23 4 0.021 0 0 0 0 0 Benign 24.2 56221 chr21 30255347 30255347 C A rs61735765 N6AMT1 Nonsynonymous SNV A61S 0.122 0.109 0.129 42 143 42 0.108 38 16 2 4 6 19.95 56222 chr17 10542709 10542709 G A rs34088014 MYH3 Nonsynonymous SNV A1003V 0.02 0.01 0 8 23 4 0.021 0 0 0 0 0 Benign 25 56223 chr5 109125181 109125181 A G MAN2A1 Synonymous SNV Q632Q 0 0 0 3 0 0 0.008 0 0 0 0 0 6.181 56224 chr5 90079811 90079811 C T rs41311745 ADGRV1 Synonymous SNV P4530P 0.009 0.008 0.003 7 10 3 0.018 1 0 0 0 0 Benign/Likely benign 16.26 56225 chr17 10558376 10558376 A G rs17817203 MYH3 Synonymous SNV S2S 0.02 0.01 0 8 23 4 0.021 0 0 0 0 0 Benign 0.176 56226 chr5 110428060 110428060 T C rs145437203 WDR36 Nonsynonymous SNV L25P 0.015 0.018 0.01 19 18 7 0.049 3 0 1 0 0 Likely benign 9.746 56227 chr16 23494284 23494284 G T rs763821574 GGA2 Nonsynonymous SNV F280L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 56228 chr16 19451987 19451987 C T rs148052684 TMC5 Synonymous SNV G209G 0.017 0.016 0.017 7 20 6 0.018 5 1 0 0 0 12.68 56229 chr17 11597289 11597289 T G rs200681631 DNAH9 Stop gain Y1573X 0.006 0 0 1 7 0 0.003 0 0 0 0 0 37 56230 chr17 17696987 17696987 C T rs150563155 RAI1 Nonsynonymous SNV P242L 0.011 0.01 0.01 3 13 4 0.008 3 0 0 0 0 Benign/Likely benign 24.3 56231 chr17 17750992 17750992 C T rs371456416 TOM1L2 Nonsynonymous SNV R376Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 56232 chr17 17919397 17919397 C T rs78556652 DRC3 Nonsynonymous SNV T449M 0.013 0.008 0.014 3 15 3 0.008 4 0 0 0 0 32 56233 chr16 75573943 75573943 A G rs199628375 TMEM231 Synonymous SNV I353I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 2.75 56234 chr16 19627474 19627474 A C rs140203828 VPS35L Synonymous SNV L354L 0.011 0.01 0.007 9 13 4 0.023 2 0 0 0 0 0.891 56235 chr17 18003923 18003923 C T rs17855350 DRG2 Nonsynonymous SNV T194M 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 24.3 56236 chr21 32519269 32519269 T C TIAM1 Nonsynonymous SNV K173R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 56237 chr17 18039075 18039075 C T rs114328138 MYO15A Synonymous SNV A1511A 0.009 0.008 0.017 2 11 3 0.005 5 0 0 0 0 Benign/Likely benign 15.01 56238 chr17 18067119 18067119 A G rs147458358 MYO15A Nonsynonymous SNV N3252D 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 56239 chr17 18133277 18133277 A G rs115967277 LLGL1 Nonsynonymous SNV N35S 0.011 0.008 0.014 3 13 3 0.008 4 0 0 0 0 Benign 12.37 56240 chr16 2050011 2050011 G A ZNF598 Synonymous SNV S513S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.561 56241 chr21 33765560 33765560 C T rs11702306 URB1-AS1 0 0 0.122 0 0 0 0 36 0 0 2 0 12.28 56242 chr17 18217958 18217958 C T rs2230153 TOP3A Synonymous SNV A45A 0.011 0.008 0.017 3 13 3 0.008 5 0 0 0 0 22.6 56243 chr21 34924228 34924228 G A rs61746013 SON Synonymous SNV A897A 0.02 0.016 0.027 12 24 6 0.031 8 1 0 0 0 Benign 4.08 56244 chr17 18243418 18243418 C G rs141575508 SHMT1 Synonymous SNV V113V 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 Benign 11.31 56245 chr21 34926043 34926043 G A rs61743204 SON Nonsynonymous SNV M1502I 0.066 0.063 0.085 24 78 24 0.062 25 5 0 1 0 1.116 56246 chr5 153792490 153792490 C T rs35448914 GALNT10 Synonymous SNV H476H 0.037 0.042 0.051 15 43 16 0.038 15 1 1 0 1 15.54 56247 chr5 118484603 118484603 A G rs1029381930 DMXL1 Synonymous SNV P1027P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.489 56248 chr16 20827445 20827445 G T rs369092546 REXO5 Nonsynonymous SNV R129L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 56249 chr21 35284683 35284683 A G rs78234759 ATP5PO Synonymous SNV G36G 0.086 0.07 0.061 35 101 27 0.09 18 3 4 0 0 2.822 56250 chr5 102282583 102282583 G A rs145099851 PAM Nonsynonymous SNV R190H 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 24.8 56251 chr16 28950051 28950051 G A rs34763945 CD19 Nonsynonymous SNV R515H 0.06 0.034 0.034 24 71 13 0.062 10 2 0 1 0 Benign 21.1 56252 chr21 38592773 38592773 G T rs192289086 DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 4.076 56253 chr21 38593461 38593461 G T rs1888464 DSCR9 0 0 0.204 0 0 0 0 60 0 0 6 0 4.218 56254 chr21 38593609 38593609 C T rs2835677 DSCR9 0 0 0.204 0 0 0 0 60 0 0 6 0 10.32 56255 chr21 40250763 40250763 A - rs5843936 LOC400867 0 0 0.639 0 0 0 0 188 0 0 58 0 56256 chr21 40250766 40250766 G A rs1569306 LOC400867 0 0 0.575 0 0 0 0 169 0 0 45 0 2.034 56257 chr16 21281179 21281179 T C rs141595341 CRYM Nonsynonymous SNV I141V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 56258 chr16 21976762 21976762 G A rs4850 UQCRC2 Nonsynonymous SNV R183Q 0.054 0.036 0.041 17 63 14 0.044 12 1 0 0 2 Benign 23.6 56259 chr5 157002695 157002695 C T rs11465228 ADAM19 Nonsynonymous SNV G4S 0.044 0.029 0.027 26 52 11 0.067 8 3 1 1 3 20.5 56260 chr16 22092067 22092067 A C rs72784938 MOSMO Nonsynonymous SNV N124H 0.052 0.034 0.037 16 61 13 0.041 11 1 0 0 2 10.86 56261 chr16 30006486 30006486 T C rs148268876 HIRIP3 Nonsynonymous SNV K80R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.2 56262 chr5 131398362 131398362 C T rs373251020 IL3 Stop gain R113X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 56263 chr16 83999548 83999548 T C rs62640905 OSGIN1 Nonsynonymous SNV V457A 0.024 0.021 0.034 14 28 8 0.036 10 0 0 0 0 22.9 56264 chr4 186379286 186379286 A T rs34800518 CCDC110 Nonsynonymous SNV L782M 0.032 0.031 0.014 5 37 12 0.013 4 1 0 0 0 0.005 56265 chr21 40969620 40969620 G A rs2091883 B3GALT5-AS1 0 0 0.299 0 0 0 0 88 0 0 14 0 2.499 56266 chr5 112177426 112177426 C T rs187297940 APC Synonymous SNV S2027S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Benign/Likely benign 11.16 56267 chr16 3023159 3023159 G C rs144946970 PKMYT1 Nonsynonymous SNV P469R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.487 56268 chr17 17720319 17720319 C T rs36215896 SREBF1 Nonsynonymous SNV V556M 0.029 0.029 0.007 10 34 11 0.026 2 0 0 0 0 27.6 56269 chr21 41033062 41033062 G A rs734412 B3GALT5 Synonymous SNV R192R 0.053 0.052 0.054 15 62 20 0.038 16 3 0 0 0 6.508 56270 chr16 84163692 84163692 A G rs377039417 HSDL1 Synonymous SNV L189L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.185 56271 chr16 30680765 30680765 C T FBRS Synonymous SNV R914R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.95 56272 chr5 132161255 132161255 C T rs201403774 SHROOM1 Nonsynonymous SNV G193D 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 0.015 56273 chr16 3074336 3074336 A C rs116159486 THOC6 Synonymous SNV R3R 0.024 0.023 0.017 8 28 9 0.021 5 1 0 0 0 0.707 56274 chr16 30779775 30779775 G T RNF40 Nonsynonymous SNV D535Y 0 0 0 1 0 0 0.003 0 0 0 0 0 19.8 56275 chr16 24046861 24046861 T C rs116345778 PRKCB Synonymous SNV I174I 0.016 0.016 0.014 3 19 6 0.008 4 0 0 0 0 Benign 0.834 56276 chr5 162932716 162932716 C G rs780300465 MAT2B Synonymous SNV L8L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.07 56277 chr5 134782396 134782396 T A rs67187482 DCANP1 Nonsynonymous SNV S135C 0.012 0.01 0.027 10 14 4 0.026 8 0 0 0 0 10.16 56278 chr5 134782443 134782443 T C rs113429044 DCANP1 Nonsynonymous SNV K119R 0.012 0.01 0.027 10 14 4 0.026 8 0 0 0 0 5.395 56279 chr4 187455399 187455399 C T rs28383653 MTNR1A Nonsynonymous SNV G166E 0.016 0.016 0.007 1 19 6 0.003 2 0 1 0 0 15.54 56280 chr17 1943818 1943818 G A rs61757361 DPH1 Nonsynonymous SNV R174Q 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.313 56281 chr16 31090666 31090666 C G rs143403072 ZNF646 Synonymous SNV V1007V 0.007 0 0 4 8 0 0.01 0 0 0 0 0 0.952 56282 chr21 43539287 43539287 G A rs118104890 UMODL1 Nonsynonymous SNV V904I 0.042 0.042 0.034 23 49 16 0.059 10 3 0 1 1 0.002 56283 chr16 84495825 84495825 G A rs12448746 ATP2C2-AS1 0.135 0.096 0.156 59 159 37 0.151 46 59 13 10 18 3.244 56284 chr16 28145177 28145177 G A rs201774423 XPO6 Synonymous SNV H507H 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 7.936 56285 chr5 171639152 171639152 C T rs17074452 UBTD2 Nonsynonymous SNV M129I 0.02 0.016 0.014 7 23 6 0.018 4 0 0 0 0 18.33 56286 chr16 3117607 3117607 G A rs145687578 IL32 Nonsynonymous SNV R36H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 0.324 56287 chr21 43710279 43710279 C T rs138421137 ABCG1 Synonymous SNV F460F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 13.46 56288 chr21 43770099 43770099 C T rs140059138 TFF2 Synonymous SNV T40T 0.008 0.003 0.014 6 9 1 0.015 4 0 0 0 0 17.26 56289 chr16 28508892 28508892 G A rs34395441 APOBR Nonsynonymous SNV E844K 0.035 0.029 0.027 13 41 11 0.033 8 1 0 0 0 17.38 56290 chr16 31341424 31341424 C A rs41321249 ITGAM Nonsynonymous SNV T1000N 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 Benign 12.05 56291 chr21 43974226 43974226 T C rs2839550 SLC37A1 Synonymous SNV L275L 0.093 0.081 0.136 35 109 31 0.09 40 8 1 1 1 0.994 56292 chr16 29690461 29690461 C G rs750514527 QPRT Nonsynonymous SNV P15R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.557 56293 chr16 84115504 84115504 C A MBTPS1 Nonsynonymous SNV Q432H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23.3 56294 chr16 29899123 29899123 G T rs75331747 SEZ6L2 Nonsynonymous SNV T238N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.09 56295 chr5 139422602 139422602 C T rs188534354 NRG2 Nonsynonymous SNV R18Q 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Likely benign 21.5 56296 chr16 30001072 30001072 G C rs146674095 TAOK2 Synonymous SNV A797A 0.017 0.023 0.007 5 20 9 0.013 2 0 0 0 0 14.08 56297 chr16 30006759 30006759 G A rs775605788 HIRIP3 Nonsynonymous SNV R31W 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 33 56298 chr17 26883895 26883895 C A rs35452097 PIGS Nonsynonymous SNV A344S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 16.97 56299 chr16 30124363 30124363 G A rs187844693 GDPD3 Synonymous SNV N54N 0.016 0.023 0 5 19 9 0.013 0 0 0 0 0 4.932 56300 chr16 336362 336362 C T rs190260612 PDIA2 Synonymous SNV L377L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.218 56301 chr5 176915143 176915143 C T rs2306764 PDLIM7 Nonsynonymous SNV A326T 0.028 0.036 0.027 9 33 14 0.023 8 0 0 0 0 19.44 56302 chr5 134126198 134126198 T C rs34125601 DDX46 Synonymous SNV L528L 0.008 0 0.003 3 9 0 0.008 1 0 0 0 0 0.143 56303 chr5 134332123 134332123 A G CATSPER3 Nonsynonymous SNV Q138R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.772 56304 chr17 27945979 27945979 A G rs61732667 CORO6 Synonymous SNV N154N 0.025 0.021 0.065 8 29 8 0.021 19 1 0 0 0 0.313 56305 chr17 28088245 28088245 G - rs111727573 SSH2 C18Afs*8 0.024 0.018 0.061 6 28 7 0.015 18 1 0 0 0 56306 chr5 176936646 176936646 C T rs41275297 DOK3 Nonsynonymous SNV G22R 0.017 0.031 0.01 6 20 12 0.015 3 0 0 0 0 7.547 56307 chr17 28268817 28268817 G A rs79556405 EFCAB5 Star tloss M1? 0.027 0.021 0.071 7 32 8 0.018 21 1 0 0 0 24.3 56308 chr5 134724622 134724622 T C rs11548903 MACROH2A1 Synonymous SNV E54E 0.027 0.031 0.024 5 32 12 0.013 7 0 0 0 0 0.786 56309 chr17 28380655 28380655 G T rs9900546 EFCAB5 Nonsynonymous SNV R505S 0.035 0.031 0.082 8 41 12 0.021 24 1 0 0 0 0.76 56310 chr16 88504585 88504585 C T rs760186083 ZNF469 Synonymous SNV C3569C 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 7.52 56311 chr16 88504853 88504853 G A rs3812951 ZNF469 Nonsynonymous SNV G3659R 0.024 0.039 0.007 7 28 15 0.018 2 0 1 0 0 Benign/Likely benign 3.252 56312 chr21 46841398 46841398 G A rs2838920 COL18A1-AS1 0 0 0.133 0 0 0 0 39 0 0 1 0 6.288 56313 chr17 29298304 29298304 C G rs7225888 RNF135 Nonsynonymous SNV H71Q 0.014 0.013 0.014 4 16 5 0.01 4 0 0 1 0 1.571 56314 chr21 46842443 46842443 C T rs8131523 COL18A1-AS1 0 0 0.133 0 0 0 0 39 0 0 1 0 0.834 56315 chr17 29298413 29298413 T C rs7211440 RNF135 Nonsynonymous SNV S108P 0.011 0.013 0.014 4 13 5 0.01 4 0 0 1 0 4.826 56316 chr5 9122926 9122926 C T rs6894626 SEMA5A Synonymous SNV G541G 0.062 0.055 0.058 27 73 21 0.069 17 3 1 0 0 9.576 56317 chr16 31120834 31120834 C T rs766543783 BCKDK Synonymous SNV P66P 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 14.32 56318 chr17 29298451 29298451 G T rs7224960 RNF135 Synonymous SNV P120P 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 9.155 56319 chr5 137089197 137089197 C T rs201091840 HNRNPA0 Nonsynonymous SNV G187S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 12.26 56320 chr21 46898243 46898243 C G rs13046486 COL18A1 Synonymous SNV G588G 0.098 0.109 0.099 48 115 42 0.123 29 5 1 2 3 Benign 5.12 56321 chr21 46950863 46950863 C T rs79091853 SLC19A1 Synonymous SNV A284A 0.023 0.021 0.017 15 27 8 0.038 5 0 0 0 0 11.55 56322 chr16 4431373 4431373 G C rs740374 VASN Synonymous SNV P165P 0.02 0.026 0.014 3 23 10 0.008 4 0 0 0 0 0.091 56323 chr17 3119149 3119149 C A rs149529151 OR1A1 Nonsynonymous SNV P79T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.6 56324 chr21 47581387 47581395 ACGTCGATG - rs756622846 SPATC1L I154_V156del 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 56325 chr5 140778472 140778472 A G rs200564636 PCDHGB5 Nonsynonymous SNV T260A 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 0.017 56326 chr16 3165478 3165478 G A rs149393048 ZNF205 Synonymous SNV G60G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.644 56327 chr5 13737444 13737444 G A rs17263496 DNAH5 Nonsynonymous SNV T3791I 0.097 0.073 0.105 43 114 28 0.11 31 4 2 0 2 Benign/Likely benign 29.4 56328 chr5 138456772 138456772 C T rs147194912 SIL1 Nonsynonymous SNV V66I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 3.128 56329 chr5 179036457 179036457 G C rs11541392 RUFY1 Synonymous SNV P580P 0.106 0.102 0.088 42 125 39 0.108 26 8 3 1 3 7.54 56330 chr21 47685951 47685951 G A rs777655746 MCM3AP Synonymous SNV P973P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.609 56331 chr17 32647357 32647357 A T rs34202026 CCL8 Nonsynonymous SNV E49V 0.008 0.013 0.017 1 9 5 0.003 5 0 0 0 0 9.026 56332 chr5 14270947 14270947 C T rs55664610 TRIO Synonymous SNV N57N 0.017 0.016 0.014 2 20 6 0.005 4 0 0 0 0 Benign 16.05 56333 chr5 14316843 14316843 C T rs371966763 TRIO Synonymous SNV D574D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.13 56334 chr17 3301626 3301626 A G rs62091316 OR1E1 Nonsynonymous SNV C27R 0.032 0.047 0.024 13 37 18 0.033 7 0 1 0 0 18.71 56335 chr16 88790287 88790287 C T PIEZO1 Nonsynonymous SNV A1443T 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 26.3 56336 chr5 14508411 14508411 G T rs138380178 TRIO Synonymous SNV T3058T 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 0.107 56337 chr17 3324720 3324720 A G rs12939997 OR3A3 Nonsynonymous SNV M287V 0.033 0.042 0.027 9 39 16 0.023 8 0 1 0 0 1.804 56338 chr16 4764117 4764117 A C rs78384770 ANKS3 Nonsynonymous SNV M42R 0.026 0.026 0.02 8 31 10 0.021 6 1 0 0 0 12.68 56339 chr17 27044482 27044482 C A rs11545700 RAB34 Nonsynonymous SNV R82L 0.069 0.057 0.085 23 81 22 0.059 25 1 0 1 1 20.9 56340 chr17 27381621 27381621 C T rs146599491 PIPOX Nonsynonymous SNV S240F 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.5 56341 chr5 180030313 180030313 C A rs307821 FLT4 Nonsynonymous SNV R1324L 0.102 0.128 0.099 37 120 49 0.095 29 3 4 3 4 Benign 3.268 56342 chr5 180057231 180057231 C A rs3736061 FLT4 Synonymous SNV L169L 0.062 0.065 0.078 32 73 25 0.082 23 4 1 1 0 Benign 7.828 56343 chr5 140025192 140025192 C T rs142478462 NDUFA2 Nonsynonymous SNV V94I 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 23.2 56344 chr17 27893169 27893169 G A rs147908255 ABHD15 Synonymous SNV F272F 0.005 0 0 2 6 0 0.005 0 0 0 0 0 15.03 56345 chr5 140176592 140176592 G A rs149822412 PCDHA2 Synonymous SNV R681R 0.028 0.029 0.007 10 33 11 0.026 2 0 0 0 0 3.915 56346 chr16 88967995 88967995 C T rs150762076 CBFA2T3 Nonsynonymous SNV R74Q 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 23.7 56347 chr16 3639827 3639827 G A rs3810813 SLX4 Nonsynonymous SNV S1271F 0.059 0.065 0.051 22 69 25 0.056 15 2 0 0 1 Benign/Likely benign 26.6 56348 chr17 33497250 33497250 G T rs139081277 UNC45B Synonymous SNV L555L 0.009 0.023 0.007 6 11 9 0.015 2 0 0 0 0 Benign 9.442 56349 chr22 18021936 18021936 A G rs62623401 CECR2 Nonsynonymous SNV M539V 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 0.003 56350 chr22 18301508 18301508 T C rs148613283 MICAL3 Nonsynonymous SNV R1307G 0.006 0.005 0.017 1 7 2 0.003 5 0 0 0 0 10.7 56351 chr5 140720003 140720003 T C rs145901587 PCDHGA2 Nonsynonymous SNV Y489H 0.005 0 0 0 6 0 0 0 0 0 0 0 22 56352 chr16 49670525 49670525 G T rs12599354 ZNF423 Synonymous SNV P729P 0.011 0.018 0.003 4 13 7 0.01 1 0 0 0 0 Benign 0.149 56353 chr6 592566 592566 C T rs62385137 EXOC2 Synonymous SNV A365A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.82 56354 chr6 656380 656380 T C rs192257165 HUS1B Nonsynonymous SNV M189V 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 14.32 56355 chr17 29187497 29187497 A G rs9896095 ATAD5 Synonymous SNV V1001V 0.068 0.039 0.075 31 80 15 0.079 22 10 2 0 2 0.279 56356 chr5 147807362 147807367 TGGGAG - rs201449897 FBXO38 S839_G840del 0.009 0.013 0.007 1 10 5 0.003 2 0 0 0 0 56357 chr16 50709827 50709827 G A rs753600606 SNX20 Nonsynonymous SNV H46Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.387 56358 chr16 88788805 88788805 A G rs539832134 PIEZO1 Synonymous SNV S1592S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.484 56359 chr6 1390444 1390444 G A rs72667003 FOXF2 Nonsynonymous SNV A88T 0.061 0.06 0.041 16 72 23 0.041 12 0 0 0 0 10.66 56360 chr5 140763100 140763100 C T rs2240698 PCDHGA7 Nonsynonymous SNV L212F 0.011 0.008 0.01 4 13 3 0.01 3 0 0 0 0 24.4 56361 chr17 34106250 34106250 G A rs566497354 MMP28 Synonymous SNV I63I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.54 56362 chr16 46781894 46781894 C T rs780172365 MYLK3 Nonsynonymous SNV R71Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.503 56363 chr16 50763778 50763778 - C rs2066847 NOD2 Frameshift insertion L980Pfs*2 0.023 0.01 0.027 7 27 4 0.018 8 0 0 0 0 56364 chr5 140774391 140774391 G C rs200702899 PCDHGA8 Nonsynonymous SNV V671L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 56365 chr16 89799779 89799779 G A rs775039914 ZNF276 Synonymous SNV P413P 0.007 0.01 0 6 8 4 0.015 0 0 0 0 0 9.384 56366 chr16 47536996 47536996 G A rs144486825 PHKB Nonsynonymous SNV D134N 0.012 0.01 0.007 6 14 4 0.015 2 1 0 0 0 Conflicting interpretations of pathogenicity 26.4 56367 chr17 10216537 10216537 G A rs190159101 MYH13 Synonymous SNV A1373A 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.705 56368 chr5 140802724 140802726 GTG - rs776903094 PCDHGA11 V645del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 56369 chr17 32904484 32904484 T C rs72817878 C17orf102 0.039 0.042 0.02 19 46 16 0.049 6 0 0 0 0 1.474 56370 chr5 149500514 149500514 C T rs41287108 PDGFRB Synonymous SNV K777K 0.02 0.018 0.01 5 23 7 0.013 3 1 1 0 0 Benign/Likely benign 17.65 56371 chr17 3514054 3514054 T C rs35091524 SHPK Nonsynonymous SNV M413V 0.003 0.01 0.007 0 3 4 0 2 0 0 0 0 Likely benign 24.4 56372 chr5 149504348 149504348 C T rs56072663 PDGFRB Synonymous SNV T554T 0.051 0.07 0.051 27 60 27 0.069 15 1 0 0 3 Benign 20.2 56373 chr16 88927346 88927346 G A TRAPPC2L Synonymous SNV S140S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.724 56374 chr5 140953564 140953566 GGA - rs767100040 DIAPH1 P611del 0.072 0.042 0.02 20 85 16 0.051 6 3 0 0 0 56375 chr5 140953566 140953566 - GGA DIAPH1 P611_L612insP 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 56376 chr16 55518043 55518043 G A rs147947052 MMP2 Nonsynonymous SNV E116K 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 24 56377 chr22 21347142 21347142 C T rs145833752 LZTR1 Synonymous SNV F403F 0.001 0.005 0.017 0 1 2 0 5 0 0 0 0 Benign 19.13 56378 chr22 21356549 21356549 T C rs385427 THAP7-AS1 0 0 0.197 0 0 0 0 58 0 0 4 0 5.775 56379 chr22 21356566 21356566 A G rs369250 THAP7-AS1 0 0 0.381 0 0 0 0 112 0 0 24 0 6.712 56380 chr22 21356824 21356824 G A rs28372939 THAP7-AS1 0 0 0.194 0 0 0 0 57 0 0 4 0 6.592 56381 chr22 21356893 21356896 AGAC - rs59698086 THAP7-AS1 0 0 0.194 0 0 0 0 57 0 0 4 0 56382 chr17 10428275 10428275 G A MYH2 Synonymous SNV D1590D 0.001 0 0 6 1 0 0.015 0 0 0 0 0 Likely benign 0.168 56383 chr22 21356925 21356925 T A rs9625292 THAP7-AS1 0 0 0.184 0 0 0 0 54 0 0 5 0 5.79 56384 chr5 38884071 38884071 T G rs34675408 OSMR Nonsynonymous SNV H187Q 0.064 0.081 0.051 35 75 31 0.09 15 6 2 0 2 0.004 56385 chr5 40998760 40998760 C T rs61745464 MROH2B Synonymous SNV L1535L 0.057 0.057 0.054 26 67 22 0.067 16 1 2 0 1 11.27 56386 chr5 40998779 40998779 T C rs74393302 MROH2B Nonsynonymous SNV D1529G 0.056 0.057 0.051 26 66 22 0.067 15 1 2 0 1 9.608 56387 chr16 56913089 56913089 G C rs780273313 SLC12A3 Nonsynonymous SNV E429Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 56388 chr5 150666843 150666843 A C rs6579846 SLC36A3 Synonymous SNV L224L 0.124 0.125 0.095 67 145 48 0.172 28 6 4 2 5 0.228 56389 chr22 22843469 22843469 T C rs78270162 ZNF280B Synonymous SNV K85K 0.016 0.013 0.01 1 19 5 0.003 3 0 0 0 0 1.678 56390 chr5 150666962 150666962 G A rs12520516 SLC36A3 Nonsynonymous SNV P185S 0.117 0.12 0.088 67 137 46 0.172 26 6 4 2 5 18.93 56391 chr17 33772550 33772550 C T rs76192030 SLFN13 Synonymous SNV A50A 0.151 0.12 0.085 58 177 46 0.149 25 10 3 1 4 11.08 56392 chr5 145393315 145393315 C T rs9325001 SH3RF2 Synonymous SNV N250N 0.013 0.003 0 5 15 1 0.013 0 0 0 0 0 12.01 56393 chr17 11774931 11774931 C T rs146871107 DNAH9 Nonsynonymous SNV S3357F 0.001 0 0 6 1 0 0.015 0 0 0 0 0 34 56394 chr17 36830572 36830572 C T rs184645580 EPOP Synonymous SNV G59G 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 7.387 56395 chr16 89807233 89807233 C G rs11649210 FANCA Synonymous SNV L1269L 0.061 0.063 0.058 17 72 24 0.044 17 2 2 1 0 Benign 8.643 56396 chr5 145464015 145464015 T C rs79446742 PLAC8L1 Nonsynonymous SNV T172A 0.013 0 0 5 15 0 0.013 0 0 0 0 0 0.006 56397 chr16 89809319 89809319 T C rs1800358 FANCA Synonymous SNV P1218P 0.073 0.068 0.075 19 86 26 0.049 22 4 2 1 0 Benign 0.021 56398 chr17 36878150 36878150 C T rs771668714 MLLT6 Nonsynonymous SNV P821L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 56399 chr5 145483790 145483790 A T rs75987140 PLAC8L1 Nonsynonymous SNV S29T 0.013 0 0 5 15 0 0.013 0 0 0 0 0 0.001 56400 chr5 42700021 42700021 C T rs121909362 GHR Nonsynonymous SNV R157C 0.016 0.023 0.007 6 19 9 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 26 56401 chr16 89920717 89920717 C T rs12921652 SPIRE2 Synonymous SNV D223D 0.028 0.031 0.027 7 33 12 0.018 8 0 0 0 0 11.57 56402 chr16 89977604 89977604 G A rs17850490 TCF25 Synonymous SNV A663A 0.026 0.031 0.034 6 31 12 0.015 10 0 0 0 0 4.556 56403 chr22 22892342 22892342 A G rs34101420 PRAME Synonymous SNV S237S 0.027 0.018 0.031 5 32 7 0.013 9 1 0 0 0 0.898 56404 chr17 3719447 3719447 G A rs61731024 NCBP3 Synonymous SNV H476H 0.007 0.008 0.02 6 8 3 0.015 6 0 0 0 0 9.007 56405 chr22 23237778 23237778 G A rs761292005 IGLL5 Synonymous SNV T108T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.769 56406 chr16 89986608 89986608 A G rs2228478 MC1R Synonymous SNV T314T 0.084 0.073 0.105 21 99 28 0.054 31 3 1 2 0 Benign 0.69 56407 chr17 37262117 37262117 C T rs17705646 PLXDC1 Synonymous SNV P267P 0.046 0.047 0.034 15 54 18 0.038 10 1 0 0 0 15.35 56408 chr5 43277270 43277270 G A rs767682166 NIM1K Nonsynonymous SNV R135H 0.008 0.003 0 0 9 1 0 0 0 0 0 0 27.4 56409 chr16 57608955 57608955 C T rs7196203 ADGRG5 Nonsynonymous SNV S440F 0.005 0.003 0.01 5 6 1 0.013 3 0 0 0 0 12.34 56410 chr22 23615946 23615946 G A rs34646520 BCR Synonymous SNV T700T 0.014 0.031 0.014 8 16 12 0.021 4 1 0 0 0 16.07 56411 chr22 23627256 23627256 G A rs35727393 BCR Synonymous SNV P758P 0.011 0.026 0.014 6 13 10 0.015 4 1 0 0 0 11.86 56412 chr6 13801586 13801586 C T rs141962734 MCUR1 Synonymous SNV A225A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.55 56413 chr5 151052694 151052694 C T rs143533525 SPARC Synonymous SNV A67A 0.006 0 0.01 7 7 0 0.018 3 0 0 0 0 Benign 15.71 56414 chr22 24313531 24313532 GA - rs199896117 DDTL E115Dfs*5 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 56415 chr17 10354727 10354727 T G rs34610503 MYH4 Nonsynonymous SNV S1261R 0.02 0.036 0 10 24 14 0.026 0 0 0 0 0 Benign 23.9 56416 chr5 153857492 153857492 G A HAND1 Nonsynonymous SNV P26L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 56417 chr6 17601213 17601213 C T rs61736671 FAM8A1 Synonymous SNV A191A 0.048 0.049 0.054 25 56 19 0.064 16 1 0 0 0 13.24 56418 chr16 57180026 57180026 C T rs149575340 CPNE2 Synonymous SNV D444D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 56419 chr6 17675553 17675553 T C rs61748704 NUP153 Synonymous SNV P210P 0.051 0.057 0.058 24 60 22 0.062 17 1 0 0 0 3.761 56420 chr17 3627663 3627663 G A rs55991903 HASPIN Nonsynonymous SNV R145H 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 4.319 56421 chr5 156741411 156741411 C T rs139943836 CYFIP2 Synonymous SNV F364F 0.013 0.003 0.01 2 15 1 0.005 3 0 0 0 0 14.87 56422 chr17 38933388 38933388 A C rs62622790 KRT27 Nonsynonymous SNV S415A 0.043 0.047 0.051 11 50 18 0.028 15 2 1 1 1 10.26 56423 chr5 157073747 157073747 G T rs12188040 SOX30 Nonsynonymous SNV Q429K 0.043 0.016 0.048 19 51 6 0.049 14 1 1 0 0 24.9 56424 chr5 55412572 55412572 C T rs146546015 ANKRD55 Nonsynonymous SNV E279K 0.021 0.013 0.003 7 25 5 0.018 1 0 0 0 0 Benign 24.5 56425 chr5 157098676 157098676 C A C5orf52 Synonymous SNV I18I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 19.39 56426 chr5 149212845 149212845 C T rs141686848 PPARGC1B Synonymous SNV T364T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.411 56427 chr5 157161696 157161696 G T rs752537583 THG1L Nonsynonymous SNV V29L 0.004 0 0 5 5 0 0.013 0 0 0 0 0 26.8 56428 chr22 26906216 26906216 C T rs34764403 TFIP11 Nonsynonymous SNV R8Q 0.006 0.003 0.01 4 7 1 0.01 3 0 0 0 0 Benign 22.8 56429 chr17 1265285 1265285 C T rs34137556 YWHAE Synonymous SNV K94K 0.018 0 0 4 21 0 0.01 0 0 0 0 0 Likely benign 16.18 56430 chr22 26937321 26937321 G A rs17851532 TPST2 Synonymous SNV P92P 0.057 0.055 0.061 39 67 21 0.1 18 2 2 2 2 11.01 56431 chr22 28501414 28501414 C T rs77885044 TTC28 Nonsynonymous SNV E1054K 0.005 0.016 0.007 2 6 6 0.005 2 0 0 0 0 26.7 56432 chr17 38975200 38975200 G T KRT10 Synonymous SNV G529G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.942 56433 chr17 38975208 38975208 T C rs201576759 KRT10 Nonsynonymous SNV S527G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.742 56434 chr5 159686752 159686752 C T rs139134014 CCNJL Nonsynonymous SNV V103I 0.01 0.018 0.007 10 12 7 0.026 2 0 0 0 0 23.5 56435 chr17 38975212 38975212 A G rs780490580 KRT10 Synonymous SNV S525S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.197 56436 chr16 66974490 66974490 G A rs149179989 CES2 Synonymous SNV S236S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.077 56437 chr17 38975217 38975221 CGCCG - KRT10 H522Qfs*57 0 0.003 0 0 0 1 0 0 0 0 0 0 56438 chr17 38975223 38975223 G - KRT10 H522Tfs*97 0 0.003 0 0 0 1 0 0 0 0 0 0 56439 chr16 67264052 67264052 C T rs746584932 FHOD1 Nonsynonymous SNV R1044Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.475 56440 chr16 67470505 67470505 G A rs140385822 HSD11B2 Nonsynonymous SNV V273M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.329 56441 chr16 67680370 67680370 G A rs201619990 CARMIL2 Nonsynonymous SNV R139Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 56442 chr17 36943098 36943098 C G rs199776451 PIP4K2B Nonsynonymous SNV V79L 0.003 0.01 0 4 3 4 0.01 0 0 0 0 0 29.1 56443 chr17 37094899 37094899 T C rs776035859 FBXO47 Synonymous SNV R390R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.091 56444 chr16 68264310 68264310 G A rs369636981 ESRP2 Synonymous SNV S692S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.308 56445 chr22 30770893 30770893 G - rs35859610 KIAA1656 0 0 0.765 0 0 0 0 225 0 0 99 0 56446 chr5 66084559 66084559 C G rs150823922 MAST4 Synonymous SNV S193S 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 14.53 56447 chr16 68405816 68405816 G A rs758377560 SMPD3 Nonsynonymous SNV S90L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.697 56448 chr22 30857612 30857612 A G SEC14L3 Nonsynonymous SNV S281P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 56449 chr5 167645401 167645401 G A rs747267609 TENM2 Nonsynonymous SNV R1263H 0 0 0 3 0 0 0.008 0 0 0 0 0 33 56450 chr5 150436422 150436422 C T rs52817781 TNIP1 Nonsynonymous SNV G125S 0.032 0.044 0.014 17 37 17 0.044 4 0 1 0 0 5.612 56451 chr16 618273 618273 C T rs201891065 NHLRC4 Nonsynonymous SNV P76S 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 19.26 56452 chr5 168098250 168098250 G A rs150953871 SLIT3 Synonymous SNV T1367T 0.012 0.023 0.003 7 14 9 0.018 1 0 0 0 0 Benign 8.324 56453 chr17 1552171 1552171 C T rs76453306 RILP Synonymous SNV G199G 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 10.6 56454 chr17 1552787 1552787 C T rs9909321 RILP Nonsynonymous SNV A81T 0.005 0 0.007 0 6 0 0 2 0 0 1 0 23.6 56455 chr17 18862056 18862056 C T rs750420490 SLC5A10 Nonsynonymous SNV T58M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 56456 chr6 26234521 26234521 T C rs199618509 H1-3 Nonsynonymous SNV K214R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.6 56457 chr17 19232091 19232091 C G EPN2 Synonymous SNV P120P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.133 56458 chr17 19463578 19463578 G A rs368319000 SLC47A1 Synonymous SNV R333R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 5.376 56459 chr16 70285377 70285377 G C rs900160805 EXOSC6 Nonsynonymous SNV Q143E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.75 56460 chr22 32667573 32667573 T C rs4821044 SLC5A4-AS1 0 0 0.932 0 0 0 0 274 0 0 136 0 0.148 56461 chr17 39458772 39458772 G A rs117847625 KRTAP29-1 Nonsynonymous SNV S111L 0.022 0.023 0.048 5 26 9 0.013 14 0 0 0 0 0.158 56462 chr5 171789779 171789779 G A rs76299613 SH3PXD2B Synonymous SNV S174S 0.021 0.008 0.024 12 25 3 0.031 7 0 0 0 0 Benign 14.67 56463 chr6 26597384 26597384 G A rs114752296 ABT1 Synonymous SNV R58R 0.026 0.026 0.034 9 30 10 0.023 10 1 0 0 0 13.67 56464 chr16 66730270 66730270 C T rs192164111 CMTM4 Synonymous SNV A53A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.3 56465 chr17 38640752 38640752 A G rs141133643 TNS4 Synonymous SNV S495S 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 0.343 56466 chr5 72424269 72424269 T G rs34728034 TMEM171 Synonymous SNV S231S 0.009 0.01 0.003 5 11 4 0.013 1 0 0 0 0 5.14 56467 chr16 67208570 67208570 G C rs200144674 NOL3 Nonsynonymous SNV R111P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Likely benign 25.6 56468 chr16 67220499 67220499 T C rs147432381 EXOC3L1 Nonsynonymous SNV H449R 0.009 0.003 0.01 3 10 1 0.008 3 0 0 0 0 0.645 56469 chr6 27368209 27368209 C T rs41269263 ZNF391 Synonymous SNV N20N 0.038 0.047 0.051 16 45 18 0.041 15 0 1 0 0 10.5 56470 chr16 67236259 67236259 A G MIR328 0.001 0 0 0 1 0 0 0 0 0 0 0 0.321 56471 chr16 67236292 67236292 C G rs188892061 MIR328 0.009 0.003 0.01 3 10 1 0.008 3 0 0 0 0 6.387 56472 chr5 150945448 150945448 A G rs370592223 FAT2 Synonymous SNV H1015H 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 0.003 56473 chr5 74109693 74109693 C A rs61729972 FAM169A Synonymous SNV R214R 0.021 0.021 0.01 6 25 8 0.015 3 0 1 0 0 16.41 56474 chr22 36892168 36892168 G A rs113645261 FOXRED2 Synonymous SNV H400H 0.007 0.013 0.003 0 8 5 0 1 0 0 0 0 1.703 56475 chr16 68719113 68719113 G A rs34494880 CDH3 Nonsynonymous SNV R422H 0.043 0.026 0.027 15 50 10 0.038 8 1 0 0 1 Benign 14.24 56476 chr17 38975293 38975328 GCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG - rs770927933 KRT10 H487_G498del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 56477 chr5 153030023 153030023 G T rs750118305 GRIA1 Synonymous SNV R118R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.582 56478 chr5 74807200 74807200 G C rs5744540 CERT1 Nonsynonymous SNV R73G 0.018 0.016 0.014 5 21 6 0.013 4 0 0 0 0 Benign 24.8 56479 chr17 39118708 39118708 A G rs143164542 KRT39 Synonymous SNV Y272Y 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.419 56480 chr22 37915100 37915100 A G rs7287804 CARD10 Synonymous SNV H36H 0.06 0.065 0.061 20 70 25 0.051 18 1 2 1 0 9.421 56481 chr22 37915145 37915145 C T rs79861380 CARD10 Synonymous SNV E21E 0.049 0.063 0.058 18 57 24 0.046 17 1 2 1 0 20 56482 chr5 75505576 75505576 A G rs754523861 SV2C Nonsynonymous SNV I259M 0.007 0.005 0 0 8 2 0 0 0 0 0 0 17.39 56483 chr22 38120041 38120041 G A rs4821700 TRIOBP Nonsynonymous SNV S493N 0.001 0.003 0.071 0 1 1 0 21 0 0 0 0 Benign/Likely benign 0.006 56484 chr16 72143406 72143406 G C rs111734496 DHX38 Synonymous SNV R1158R 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 Benign 11.14 56485 chr17 18923681 18923681 C T rs117355297 SLC5A10 Synonymous SNV V549V 0.047 0.044 0.051 11 55 17 0.028 15 1 0 1 1 15.91 56486 chr17 39183012 39183012 G - rs200596096 KRTAP1-5 C133Afs*4 0.048 0.055 0.044 19 56 21 0.049 13 0 0 0 0 56487 chr5 157171069 157171069 C T LSM11 Nonsynonymous SNV A104V 0.003 0 0 0 4 0 0 0 0 0 0 0 16.87 56488 chr16 72830539 72830539 C G rs62051555 ZFHX3 Nonsynonymous SNV Q1100H 0.023 0.013 0.003 6 27 5 0.015 1 0 0 0 0 18.56 56489 chr22 39530540 39530540 T G rs771568603 CBX7 Nonsynonymous SNV K155T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 56490 chr5 78610174 78610174 A G rs16876657 JMY Nonsynonymous SNV H720R 0.011 0.018 0.01 6 13 7 0.015 3 0 0 0 0 0.084 56491 chr5 79041161 79041161 G A rs140350207 CMYA5 Synonymous SNV K3617K 0.014 0.026 0.007 9 16 10 0.023 2 0 0 0 0 Benign 13.95 56492 chr16 72822376 72822376 C G ZFHX3 Nonsynonymous SNV A2353P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 56493 chr16 72992581 72992581 - TCTTCCTCCTCCTCT rs757896772 ZFHX3 E487_D488insEEEEE 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 56494 chr17 40028410 40028410 T A rs41275673 ACLY Nonsynonymous SNV I934F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 56495 chr17 21207813 21207813 T G rs74575904 MAP2K3 Nonsynonymous SNV L186W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 29 56496 chr6 37349066 37349066 G A rs34150698 RNF8 Synonymous SNV K459K 0.078 0.083 0.085 31 91 32 0.079 25 6 2 0 0 14.34 56497 chr5 79950727 79950727 - CAGCGCCCC rs747419370 MSH3 P69_A70insPAP 0.011 0.003 0.014 6 13 1 0.015 4 1 0 0 1 56498 chr17 39411673 39411673 C A rs199748566 KRTAP9-9 Synonymous SNV T12T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 15.05 56499 chr17 40481472 40481472 G A rs146946014 STAT3 Synonymous SNV L413L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Likely benign 14.29 56500 chr22 42354389 42354389 A C rs62240996 LINC00634 0 0 0.344 0 0 0 0 101 0 0 17 0 1.038 56501 chr5 180030328 180030328 C T rs145806915 FLT4 Nonsynonymous SNV R1319Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.2 56502 chr16 74729219 74729219 C T rs34515646 MLKL Nonsynonymous SNV R146Q 0.009 0.013 0.003 1 11 5 0.003 1 0 0 0 0 0.407 56503 chr5 180166141 180166141 C T rs9329115 OR2Y1 Synonymous SNV R306R 0.028 0.039 0.017 14 33 15 0.036 5 0 0 0 0 9.254 56504 chr16 77245139 77245139 T C rs61746433 SYCE1L Nonsynonymous SNV L89P 0.039 0.031 0.031 10 46 12 0.026 9 2 0 1 0 15.43 56505 chr17 40716103 40716103 C T rs148652390 COASY Synonymous SNV P275P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 19.09 56506 chr16 75513243 75513243 G C rs117435647 CHST6 Nonsynonymous SNV R162G 0.044 0.044 0.041 16 52 17 0.041 12 1 0 0 0 Benign 18.51 56507 chr17 40725379 40725379 A T rs2292754 PSMC3IP Nonsynonymous SNV Y100N 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 Benign 19.26 56508 chr5 180277343 180277343 T C rs149387085 ZFP62 Synonymous SNV K384K 0.029 0.01 0.017 12 34 4 0.031 5 0 0 0 0 0.007 56509 chr22 43455432 43455432 G A rs5759125 TTLL1 Synonymous SNV D283D 0.092 0.096 0.092 40 108 37 0.103 27 5 0 3 0 Benign 12.2 56510 chr17 40926695 40926695 A T rs2305218 VPS25 Synonymous SNV V77V 0.004 0.018 0.014 3 5 7 0.008 4 1 0 1 0 8.06 56511 chr16 774957 774957 C T rs763959604 CCDC78 Nonsynonymous SNV R198Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.345 56512 chr17 27442710 27442710 G C rs28587908 MYO18A Synonymous SNV P733P 0.044 0.042 0.037 8 52 16 0.021 11 0 1 0 0 9.33 56513 chr5 173473866 173473866 A G rs776037656 NSG2 Synonymous SNV L36L 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 1.699 56514 chr22 43576880 43576880 C A rs11090144 TTLL12 Synonymous SNV V138V 0.112 0.112 0.15 41 132 43 0.105 44 7 3 5 2 16.86 56515 chr22 43579049 43579049 T C rs13058467 TTLL12 Nonsynonymous SNV N95S 0.112 0.112 0.15 43 132 43 0.11 44 7 3 5 2 0.004 56516 chr22 43610106 43610106 C T rs34893532 SCUBE1 Synonymous SNV S681S 0.122 0.13 0.16 55 143 50 0.141 47 10 5 4 4 14.84 56517 chr5 180684328 180684328 G A rs17658015 CTC-338M12.4 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 0.182 56518 chr6 1313241 1313241 G A rs199626291 FOXQ1 Nonsynonymous SNV G101D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.76 56519 chr17 39645676 39645676 G A rs117481918 KRT36 Synonymous SNV I147I 0.019 0.023 0.007 8 22 9 0.021 2 0 0 0 0 13.55 56520 chr16 81060197 81060197 C T rs184140976 CENPN Nonsynonymous SNV T235I 0.015 0.021 0.007 5 18 8 0.013 2 0 0 0 0 17.32 56521 chr6 2749631 2749631 T G rs78647583 MYLK4 Nonsynonymous SNV K22N 0.037 0.039 0.024 9 43 15 0.023 7 0 2 0 0 6.809 56522 chr5 176309082 176309082 C T rs34127573 HK3 Synonymous SNV A700A 0.027 0.018 0.027 10 32 7 0.026 8 0 0 0 1 9.427 56523 chr6 2766132 2766132 C T rs17851691 WRNIP1 Synonymous SNV S92S 0.021 0.031 0.014 7 25 12 0.018 4 0 3 0 0 19.68 56524 chr5 176315822 176315822 G T rs61749652 HK3 Synonymous SNV R320R 0.037 0.021 0.037 10 44 8 0.026 11 0 1 0 0 9.862 56525 chr16 81211587 81211587 T C rs148177245 PKD1L2 Synonymous SNV A69A 0.011 0.013 0.017 1 13 5 0.003 5 0 0 0 0 8.85 56526 chr16 81129851 81129851 G A rs760969799 GCSH Synonymous SNV A11A 0.011 0.005 0 0 13 2 0 0 0 0 0 0 Likely benign 6.554 56527 chr17 29645994 29645994 T C rs144746834 EVI2A Nonsynonymous SNV H13R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 18.3 56528 chr6 42627516 42627516 G A UBR2 Nonsynonymous SNV R1122K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 56529 chr6 3118998 3118998 G T rs2231357 BPHL Synonymous SNV R8R 0.028 0.013 0.034 13 33 5 0.033 10 0 0 0 0 1.7 56530 chr22 45198034 45198034 C T rs41278883 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV R53W 0.012 0.013 0.014 11 14 5 0.028 4 0 0 1 0 33 56531 chr17 39846184 39846184 G A rs149009383 EIF1 Synonymous SNV A62A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.73 56532 chr17 42475557 42475557 C T rs61746719 GPATCH8 Synonymous SNV G1218G 0.016 0.013 0.017 4 19 5 0.01 5 2 0 0 0 10.08 56533 chr22 45279003 45279003 G A rs78473374 PHF21B Nonsynonymous SNV T466I 0.009 0.005 0.007 0 11 2 0 2 0 0 0 0 12.49 56534 chr16 814683 814683 G A rs150589803 MSLN Nonsynonymous SNV E113K 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 1.092 56535 chr5 176958397 176958397 G A rs2306761 FAM193B Synonymous SNV P354P 0.014 0.018 0.024 2 17 7 0.005 7 0 0 0 0 14.24 56536 chr17 26646320 26646320 C G rs202198126 TMEM97 Nonsynonymous SNV L19V 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 6.77 56537 chr17 4436614 4436614 C T rs368400793 SPNS2 Nonsynonymous SNV R389C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 56538 chr22 46156446 46156446 G A rs60308683 MIR4762 0 0 0.126 0 0 0 0 37 0 0 1 0 0.555 56539 chr22 46493852 46493852 C T rs3747243 MIRLET7BHG 0 0 0.276 0 0 0 0 81 0 0 10 0 14.62 56540 chr17 4448104 4448104 C T rs138231393 MYBBP1A Nonsynonymous SNV R808Q 0.001 0.016 0.003 4 1 6 0.01 1 0 0 0 0 19.43 56541 chr22 46499120 46499120 G C rs9616125 MIRLET7BHG 0 0 0.238 0 0 0 0 70 0 0 10 0 4.173 56542 chr22 46508765 46508765 C G rs731085 MIRLET7BHG 0 0 0.289 0 0 0 0 85 0 0 8 0 3.45 56543 chr5 94805488 94805488 C A rs954965292 TTC37 Nonsynonymous SNV A1498S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.5 56544 chr6 5404830 5404830 G A rs770650914 FARS2 Nonsynonymous SNV R223H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 34 56545 chr17 40253924 40253924 G A rs368613039 DHX58 Nonsynonymous SNV P631L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 56546 chr22 47193404 47193404 C T rs141698918 TBC1D22A Nonsynonymous SNV T128M 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign 9.434 56547 chr17 40255749 40255749 C T rs371252206 DHX58 Nonsynonymous SNV R544Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.93 56548 chr16 840597 840597 C T rs3765265 CHTF18 Synonymous SNV D275D 0.012 0.016 0.007 6 14 6 0.015 2 0 0 0 0 11.48 56549 chr17 40277900 40277900 C T rs112146440 RAB5C Synonymous SNV K184K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.07 56550 chr17 33504041 33504041 G A rs779699146 UNC45B Synonymous SNV L598L 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 11.47 56551 chr16 84203737 84203737 G A rs149158199 DNAAF1 Nonsynonymous SNV D199N 0.054 0.068 0.037 33 63 26 0.085 11 0 1 0 1 Benign/Likely benign 17.56 56552 chr17 40735586 40735586 G A rs371460668 RETREG3 Nonsynonymous SNV A247V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 56553 chr22 50318061 50318061 G C rs113168785 CRELD2 Nonsynonymous SNV E248Q 0.071 0.091 0.071 28 83 35 0.072 21 2 2 0 1 4.486 56554 chr6 46190889 46190889 C A rs138769310 RCAN2 Nonsynonymous SNV V195L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 22.7 56555 chr16 84209609 84209609 C T rs34777958 DNAAF1 Nonsynonymous SNV T354M 0.011 0.005 0.024 4 13 2 0.01 7 0 0 0 0 Benign 4.089 56556 chr6 46659663 46659663 C T rs12199679 TDRD6 Synonymous SNV P1266P 0.024 0.023 0.054 9 28 9 0.023 16 0 0 0 0 0.05 56557 chr6 7727668 7727668 C T rs138813685 BMP6 Synonymous SNV S160S 0.012 0.01 0.017 9 14 4 0.023 5 0 0 0 0 Benign 12.96 56558 chr17 40845553 40845553 C T rs761083082 CNTNAP1 Synonymous SNV H997H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.06 56559 chr17 40879667 40879667 G T rs146736585 EZH1 Nonsynonymous SNV P84T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.9 56560 chr5 96139464 96139464 C T rs3734016 ERAP1 Nonsynonymous SNV E56K 0.027 0.031 0.027 16 32 12 0.041 8 0 0 0 2 9.899 56561 chr16 84212749 84212749 C T TAF1C Nonsynonymous SNV C471Y 0 0 0 3 0 0 0.008 0 0 0 0 0 9.262 56562 chr5 96231056 96231056 T G rs34261036 ERAP2 Nonsynonymous SNV L366R 0.017 0.005 0.024 5 20 2 0.013 7 0 0 1 0 Benign 28.8 56563 chr17 33879970 33879970 G A rs888841638 SLFN14 Synonymous SNV D561D 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 4.07 56564 chr5 179734230 179734230 C G rs117316494 GFPT2 Synonymous SNV S540S 0.011 0.013 0.007 1 13 5 0.003 2 0 0 0 0 7.252 56565 chr5 179740875 179740875 T G rs148353512 GFPT2 Nonsynonymous SNV I455L 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 23.6 56566 chr16 84215867 84215867 C T rs79432776 TAF1C Nonsynonymous SNV G221E 0.01 0.005 0.02 4 12 2 0.01 6 0 0 0 0 23.1 56567 chr17 33904939 33904939 T A rs147530802 PEX12 Nonsynonymous SNV R34S 0.01 0.016 0.007 4 12 6 0.01 2 0 0 0 0 Benign/Likely benign 26.5 56568 chr5 180166291 180166291 G A rs775165515 OR2Y1 Synonymous SNV Y256Y 0.009 0.003 0.003 7 10 1 0.018 1 0 0 0 0 0.032 56569 chr17 46877063 46877063 G A rs61739953 TTLL6 Nonsynonymous SNV P224L 0.031 0.026 0.037 15 36 10 0.038 11 0 0 0 0 34 56570 chr16 84227901 84227901 C T rs80156688 LOC654780 0.01 0.005 0.02 3 12 2 0.008 6 0 0 0 0 4.75 56571 chr5 180275896 180275896 A G rs150247342 ZFP62 Nonsynonymous SNV S867P 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.033 56572 chr17 46929908 46929908 T C rs2303015 CALCOCO2 Nonsynonymous SNV V206A 0.042 0.031 0.048 12 49 12 0.031 14 1 0 1 0 20.3 56573 chr16 84230347 84230347 G T rs112789102 ADAD2 Nonsynonymous SNV A541S 0.05 0.07 0.041 29 59 27 0.074 12 2 0 0 0 17.12 56574 chr17 4701402 4701402 C T rs7468 PSMB6 Synonymous SNV Y177Y 0.034 0.034 0.024 15 40 13 0.038 7 1 0 1 0 10.54 56575 chr6 15496908 15496908 C T rs147755173 JARID2 Synonymous SNV H312H 0.007 0 0 1 8 0 0.003 0 0 0 0 0 11.24 56576 chr16 84691434 84691434 G A rs117873154 KLHL36 Nonsynonymous SNV A341T 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 23.6 56577 chr17 34951458 34951458 T A rs143529065 DHRS11 Nonsynonymous SNV C69S 0.006 0 0.007 5 7 0 0.013 2 0 0 0 0 27.5 56578 chr17 3495391 3495391 T C rs55916885 TRPV1 Nonsynonymous SNV Q85R 0.022 0.026 0.044 13 26 10 0.033 13 0 1 0 1 0.015 56579 chr22 51159798 51159798 G A rs145196448 SHANK3 Synonymous SNV K1240K 0.002 0.008 0.01 2 2 3 0.005 3 0 0 0 0 Benign 2.227 56580 chr6 16327909 16327909 A C rs59310777 ATXN1 Nonsynonymous SNV H211Q 0.044 0.047 0.014 11 52 18 0.028 4 1 0 0 0 Likely benign 0.071 56581 chr6 16327916 16327918 TGC - rs797045409 ATXN1 Q208del 0.032 0.039 0.007 10 37 15 0.026 2 0 0 0 0 56582 chr6 16327918 16327918 - TGC ATXN1 Q208_H209insQ 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 56583 chr5 112128202 112128202 A G rs147036141 APC Synonymous SNV L245L 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 Benign/Likely benign 9.259 56584 chr16 84695301 84695301 C T rs73259550 KLHL36 Synonymous SNV D408D 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 14.75 56585 chr17 48355968 48355968 C T rs55649994 TMEM92 Synonymous SNV N49N 0.051 0.039 0.051 21 60 15 0.054 15 0 1 1 1 10.34 56586 chr17 3599205 3599205 A T rs142863822 P2RX5 Nonsynonymous SNV L32Q 0.009 0.008 0.003 5 10 3 0.013 1 1 0 0 0 26.7 56587 chr17 48433306 48433306 C T rs72832454 XYLT2 Nonsynonymous SNV P418L 0.026 0.042 0.037 14 30 16 0.036 11 1 1 0 2 19.39 56588 chr17 48433458 48433458 A G XYLT2 Nonsynonymous SNV T440A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 56589 chr6 3019927 3019927 G C rs6955 HTATSF1P2 0.091 0.057 0.15 30 107 22 0.077 44 11 1 2 2 2.46 56590 chr16 87637893 87637893 - CTG JPH3 A157_V158insA 0.061 0.086 0.031 33 72 33 0.085 9 2 3 0 1 56591 chr17 48447918 48447918 T C rs17776919 MRPL27 Nonsynonymous SNV T24A 0.026 0.042 0.037 14 30 16 0.036 11 1 1 0 2 0.011 56592 chr16 863422 863422 G A rs142195552 PRR25 Nonsynonymous SNV R257Q 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 21.6 56593 chr17 43322719 43322719 A G FMNL1 Nonsynonymous SNV K943R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 56594 chr17 48452756 48452756 T C rs17714854 EME1 Nonsynonymous SNV F63L 0.026 0.042 0.037 12 30 16 0.031 11 1 1 0 1 0.011 56595 chr17 48456251 48456251 C T rs17714940 EME1 Synonymous SNV C369C 0.026 0.042 0.037 12 30 16 0.031 11 1 1 0 1 14.01 56596 chr17 48470190 48470190 T C rs17715299 LRRC59 Synonymous SNV P78P 0.026 0.042 0.037 12 30 16 0.031 11 1 1 0 1 7.508 56597 chr16 88495963 88495963 C T rs74547407 ZNF469 Synonymous SNV P695P 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.08 56598 chr16 88497528 88497528 C T rs115183769 ZNF469 Nonsynonymous SNV P1217L 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 Benign/Likely benign 22.8 56599 chr2 102476221 102476221 G A rs55844421 MAP4K4 Synonymous SNV P533P 0.011 0.008 0.003 7 13 3 0.018 1 0 0 0 0 Benign 12.65 56600 chr17 36873818 36873818 G A rs753548345 MLLT6 Synonymous SNV P595P 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 11.14 56601 chr16 88500348 88500348 G A rs13334190 ZNF469 Nonsynonymous SNV R2157K 0.083 0.07 0.048 24 98 27 0.062 14 3 0 0 0 Benign/Likely benign 0.002 56602 chr17 36962567 36962567 A G rs374775353 CWC25 Synonymous SNV H328H 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 0.094 56603 chr5 114469808 114469808 T C rs79290430 TRIM36 Nonsynonymous SNV K273R 0.019 0.01 0.02 6 22 4 0.015 6 0 0 0 0 8.782 56604 chr17 36971154 36971154 T C rs184206612 CWC25 Nonsynonymous SNV M130V 0.033 0.031 0.007 10 39 12 0.026 2 0 0 0 0 21.6 56605 chr5 115249078 115249078 C T rs7733604 AP3S1 Nonsynonymous SNV P90L 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign 24.1 56606 chr6 7248990 7248990 G A rs116683035 RREB1 Nonsynonymous SNV R1618Q 0.011 0.013 0.01 2 13 5 0.005 3 0 0 0 0 26.2 56607 chr17 48616658 48616658 G A rs72835716 EPN3 Synonymous SNV E291E 0.052 0.089 0.054 19 61 34 0.049 16 2 2 1 1 5.628 56608 chr17 37295935 37295935 G T rs114494148 PLXDC1 Nonsynonymous SNV T76K 0.02 0.01 0 13 23 4 0.033 0 0 0 0 1 18.33 56609 chr2 103236395 103236395 G C SLC9A2 Nonsynonymous SNV G30R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 56610 chr17 48619274 48619274 T C rs145267208 EPN3 Nonsynonymous SNV M552T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.3 56611 chr17 37353686 37353686 C T rs199687687 CACNB1 Synonymous SNV E21E 0.009 0.005 0.003 8 11 2 0.021 1 1 0 0 0 13.57 56612 chr6 26017617 26017617 G A rs34541321 H1-1 Nonsynonymous SNV S115F 0.021 0.018 0.01 17 25 7 0.044 3 1 0 0 0 14.6 56613 chr6 26020936 26020936 C T rs2229766 HIST1H3A Synonymous SNV R73R 0.035 0.034 0.017 22 41 13 0.056 5 1 0 0 1 13.37 56614 chr17 37879585 37879585 A G rs1801201 ERBB2 Nonsynonymous SNV I654V 0.013 0.018 0.014 8 15 7 0.021 4 0 0 0 0 Benign 18.79 56615 chr5 118500264 118500264 A G rs116379331 DMXL1 Nonsynonymous SNV M1589V 0.029 0.021 0.048 9 34 8 0.023 14 1 0 0 0 22.8 56616 chr6 7862556 7862556 C T rs61733611 BMP6 Synonymous SNV A343A 0.063 0.065 0.065 13 74 25 0.033 19 2 0 1 1 14.26 56617 chr2 10595578 10595578 T C rs6432097 ODC1-DT 0 0 0.265 0 0 0 0 78 0 0 10 0 3.517 56618 chr16 88722551 88722551 C T rs569320748 MVD Nonsynonymous SNV E189K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 56619 chr2 1079280 1079280 A C rs142024310 SNTG2 Nonsynonymous SNV E50A 0.017 0.008 0.007 5 20 3 0.013 2 1 0 0 0 Benign 23.9 56620 chr17 4642627 4642627 C G rs151229852 CXCL16 Nonsynonymous SNV R22P 0.023 0.013 0.027 3 27 5 0.008 8 1 1 0 0 6.147 56621 chr5 122152681 122152681 C T rs141703385 SNX2 Synonymous SNV D173D 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 12.6 56622 chr16 88601360 88601360 C T rs72807438 ZFPM1 Synonymous SNV S998S 0.025 0.029 0.017 11 29 11 0.028 5 0 0 0 0 10.98 56623 chr16 88705496 88705496 G A rs181811362 IL17C Synonymous SNV S38S 0.009 0.01 0.01 3 10 4 0.008 3 0 0 0 0 7.199 56624 chr17 46655230 46655230 C G rs141788098 HOXB4 Nonsynonymous SNV S151T 0.004 0.01 0 0 5 4 0 0 0 0 0 0 2.29 56625 chr16 88778524 88778524 C G CTU2 Synonymous SNV P133P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.974 56626 chr17 38320394 38320394 T C rs190057952 CASC3 Synonymous SNV S482S 0.005 0.003 0 9 6 1 0.023 0 0 0 0 0 0.562 56627 chr17 3839733 3839733 G A rs151095860 ATP2A3 Synonymous SNV P784P 0.006 0 0 4 7 0 0.01 0 0 0 0 0 15.75 56628 chr17 54450122 54450122 A C rs761872808 ANKFN1 Synonymous SNV T242T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 56629 chr16 88782050 88782050 G A rs61745086 PIEZO1 Nonsynonymous SNV P2510L 0.009 0.016 0.014 5 10 6 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 56630 chr6 17541305 17541305 C A rs75982837 CAP2 Nonsynonymous SNV P198T 0.008 0.008 0 0 9 3 0 0 0 0 0 0 17.45 56631 chr5 126993282 126993282 G A rs2280170 CTXN3 Nonsynonymous SNV M23I 0.036 0.026 0.048 5 42 10 0.013 14 0 0 1 0 22.1 56632 chr16 88782079 88782079 G A rs1061228 PIEZO1 Synonymous SNV Y2500Y 0.121 0.169 0.167 81 142 65 0.208 49 7 6 5 3 Benign 7.157 56633 chr6 17551781 17551781 C T rs2296251 CAP2 Synonymous SNV I320I 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 17.92 56634 chr2 112813190 112813190 G C rs145486099 TMEM87B Nonsynonymous SNV V8L 0.014 0.021 0.014 7 16 8 0.018 4 0 0 0 1 2.058 56635 chr2 112944907 112944907 G A rs200992956 FBLN7 Nonsynonymous SNV G336S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.8 56636 chr16 88788060 88788060 G A rs72811487 PIEZO1 Synonymous SNV Y1763Y 0.026 0.034 0.024 18 31 13 0.046 7 0 0 0 0 Benign 10.08 56637 chr5 128359369 128359369 A G rs768005524 SLC27A6 Synonymous SNV R407R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.642 56638 chr6 18212739 18212739 G A rs141200089 KDM1B Synonymous SNV L397L 0.007 0.008 0 7 8 3 0.018 0 0 0 0 0 12.34 56639 chr6 32609094 32609094 C T rs1129737 HLA-DQA1 Synonymous SNV H30H 0.086 0.063 0.041 48 101 24 0.123 12 42 9 4 21 10.91 56640 chr16 89220556 89220556 C T rs141090143 ACSF3 Nonsynonymous SNV R293W 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Pathogenic/Likely pathogenic 27.8 56641 chr6 32609147 32609147 A T rs12722051 HLA-DQA1 Nonsynonymous SNV Y48F 0.086 0.063 0.041 48 101 24 0.123 12 42 9 4 21 0.002 56642 chr6 32609195 32609195 G A rs36219699 HLA-DQA1 Nonsynonymous SNV R64K 0.086 0.063 0.041 48 101 24 0.123 12 42 9 4 21 0.003 56643 chr17 56283365 56283365 G A rs35184412 MKS1 Nonsynonymous SNV R558C 0.09 0.068 0.007 32 106 26 0.082 2 6 2 0 3 Benign 8.845 56644 chr6 83838673 83838673 G A rs4706980 DOP1A Nonsynonymous SNV R587Q 0.087 0.065 0.102 25 102 25 0.064 30 1 0 2 0 22.7 56645 chr6 32610535 32610535 A C rs1130116 HLA-DQA1 Synonymous SNV P254P 0.086 0.063 0.041 48 101 24 0.123 12 42 9 4 21 0.004 56646 chr6 32629161 32629161 A G rs1130430 HLA-DQB1 Synonymous SNV L245L 0.028 0.01 0 8 33 4 0.021 0 16 2 0 4 0.008 56647 chr6 32629193 32629193 C T rs1049163 HLA-DQB1 Nonsynonymous SNV V235I 0.021 0.01 0 6 25 4 0.015 0 12 2 0 3 0.018 56648 chr6 32629210 32629210 C T rs1130429 HLA-DQB1 Nonsynonymous SNV S229N 0.021 0.005 0 4 25 2 0.01 0 12 1 0 2 18.99 56649 chr6 32629802 32629802 A G rs1049092 HLA-DQB1 Synonymous SNV D201D 0.034 0.026 0.007 16 40 10 0.041 2 17 5 1 6 0.002 56650 chr6 32629809 32629809 C T rs701564 HLA-DQB1 Nonsynonymous SNV R199H 0.023 0.021 0 13 27 8 0.033 0 11 4 0 5 6.444 56651 chr6 32632642 32632642 C T rs3204379 HLA-DQB1 Synonymous SNV R104R 0.051 0.031 0.031 16 60 12 0.041 9 25 5 4 6 12.38 56652 chr16 89598954 89598954 G A rs779792728 SPG7 Nonsynonymous SNV A412T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 27.9 56653 chr17 3912964 3912964 G A rs76915727 ZZEF1 Synonymous SNV P2889P 0.018 0.003 0.024 7 21 1 0.018 7 1 0 0 0 12.47 56654 chr6 32632659 32632659 C T rs9274390 HLA-DQB1 Nonsynonymous SNV V99I 0.051 0.031 0.034 16 60 12 0.041 10 25 5 4 6 0.001 56655 chr6 32632660 32632660 T G HLA-DQB1 Nonsynonymous SNV E98D 0.051 0.031 0.034 16 60 12 0.041 10 25 5 4 6 0.002 56656 chr16 89825107 89825107 G C rs149112292 FANCA Nonsynonymous SNV D953E 0.002 0.008 0.003 5 2 3 0.013 1 0 0 0 1 Conflicting interpretations of pathogenicity 11.05 56657 chr17 37340336 37340336 G A rs78894589 CACNB1 Synonymous SNV N282N 0.006 0.016 0.007 6 7 6 0.015 2 0 0 0 0 11.56 56658 chr2 120003780 120003780 A G rs10188946 STEAP3-AS1 0 0 0.31 0 0 0 0 91 0 0 16 0 6.02 56659 chr17 37563760 37563760 C A rs759208651 MED1 Nonsynonymous SNV D1572Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 56660 chr6 25669783 25669783 T C rs149172182 SCGN Synonymous SNV A127A 0.017 0.01 0.01 6 20 4 0.015 3 0 0 0 1 6.19 56661 chr17 57647913 57647913 A G rs141519169 DHX40 Synonymous SNV Q105Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.4 56662 chr2 120194674 120194674 C T rs72833258 TMEM37 Synonymous SNV G77G 0.033 0.036 0.024 9 39 14 0.023 7 0 1 0 0 8.049 56663 chr6 33690691 33690691 C T rs36101795 IP6K3 Nonsynonymous SNV E347K 0.009 0.01 0.003 5 11 4 0.013 1 0 0 0 0 6.744 56664 chr2 120194680 120194680 C G rs72833259 TMEM37 Synonymous SNV A79A 0.033 0.036 0.024 9 39 14 0.023 7 0 1 0 0 8.11 56665 chr17 58678032 58678032 C A rs201612900 PPM1D Nonsynonymous SNV P86Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 8.035 56666 chr16 9858502 9858502 C G rs61731465 GRIN2A Nonsynonymous SNV V967L 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Benign/Likely benign 4.751 56667 chr17 37903020 37903020 G A rs757265772 GRB7 Nonsynonymous SNV R490H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 56668 chr17 59489707 59489707 C T rs77617620 C17orf82 0.07 0.091 0.109 29 82 35 0.074 32 2 1 1 1 18.13 56669 chr5 137088945 137088945 - GCT rs548286503 HNRNPA0 S270_G271insS 0.03 0.021 0.02 7 35 8 0.018 6 0 0 0 0 56670 chr2 120734635 120734635 A T rs3189128 PTPN4 Nonsynonymous SNV T924S 0.016 0.034 0.027 8 19 13 0.021 8 0 1 0 0 17.77 56671 chr17 10317762 10317762 G A rs200214136 MYH8 Nonsynonymous SNV A282V 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 56672 chr17 48618909 48618909 G C rs138924150 EPN3 Nonsynonymous SNV G480A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 56673 chr17 39165038 39165038 G A rs375741947 KRTAP3-1 Nonsynonymous SNV R97C 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 22 56674 chr17 5993673 5993673 C A WSCD1 Nonsynonymous SNV A192E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 56675 chr17 38240216 38240216 C T rs2230701 THRA Synonymous SNV A117A 0.023 0.031 0.024 9 27 12 0.023 7 0 0 0 1 Benign 19.91 56676 chr2 128408550 128408550 G A rs141840938 GPR17 Nonsynonymous SNV V81M 0.004 0 0.007 0 5 0 0 2 0 0 0 0 26.4 56677 chr6 26405816 26405816 T C rs55676749 BTN3A1 Nonsynonymous SNV F9L 0.034 0.034 0.031 15 40 13 0.038 9 1 0 0 1 0.622 56678 chr17 60813550 60813550 G A rs147046907 MARCHF10 Nonsynonymous SNV T560I 0.017 0.013 0.027 1 20 5 0.003 8 0 0 0 0 3.766 56679 chr6 26444375 26444375 G A rs1057923 BTN3A3 Synonymous SNV P50P 0.049 0.026 0.027 12 58 10 0.031 8 1 0 2 0 6.762 56680 chr5 139231255 139231255 C T rs75431091 NRG2 Nonsynonymous SNV R503H 0.082 0.081 0.092 32 96 31 0.082 27 4 1 1 0 22.9 56681 chr16 904551 904551 G C rs4984948 LMF1 Nonsynonymous SNV P453R 0.008 0.008 0.003 4 9 3 0.01 1 0 0 0 0 20.3 56682 chr2 128608165 128608165 T C rs141939117 POLR2D Nonsynonymous SNV S117G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 56683 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGGGG MYH3 Frameshift insertion G203Pfs*78 0.043 0.047 0 12 51 18 0.031 0 0 0 0 0 56684 chr6 26598798 26598798 G A rs3800304 ABT1 Synonymous SNV G248G 0.049 0.026 0.027 12 58 10 0.031 8 1 0 2 0 9.84 56685 chr2 128622723 128622723 T G AMMECR1L Nonsynonymous SNV H293P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 56686 chr17 49067846 49067846 G A rs148911088 SPAG9 Nonsynonymous SNV T704I 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 22.8 56687 chr6 27115069 27115069 G C rs7756481 H2AC12 Synonymous SNV A54A 0.049 0.021 0.031 11 58 8 0.028 9 1 0 2 0 13.8 56688 chr17 61559019 61559019 G C rs34680431 ACE Synonymous SNV S346S 0.014 0.01 0.007 10 16 4 0.026 2 0 0 0 0 Benign/Likely benign 12.27 56689 chr6 27222539 27222539 A G rs1062834 PRSS16 Synonymous SNV L406L 0.05 0.021 0.031 12 59 8 0.031 9 1 0 2 0 10.11 56690 chr17 1132887 1132887 G T ABR Nonsynonymous SNV A13D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 56691 chr6 27278634 27278634 C G rs12191414 POM121L2 Nonsynonymous SNV S439T 0.044 0.023 0.031 11 52 9 0.028 9 0 0 2 0 3.192 56692 chr17 11543588 11543588 G A rs17600516 DNAH9 Synonymous SNV G596G 0.026 0.026 0.01 6 30 10 0.015 3 0 0 0 0 8.412 56693 chr6 36293083 36293083 G A rs76331220 BNIP5 Nonsynonymous SNV P382L 0.024 0.013 0.01 8 28 5 0.021 3 0 0 0 0 7.712 56694 chr6 28117331 28117331 C T rs62620225 ZKSCAN8 Nonsynonymous SNV P163L 0.066 0.057 0.058 29 78 22 0.074 17 1 0 1 0 15.54 56695 chr17 10415269 10415269 A G rs117790102 MYH1 Nonsynonymous SNV Y435H 0.015 0.016 0.014 14 18 6 0.036 4 1 0 0 0 25.4 56696 chr17 53237192 53237192 G T STXBP4 Nonsynonymous SNV V528L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 56697 chr17 62133286 62133286 A C rs186305118 ERN1 Nonsynonymous SNV L474R 0.009 0.01 0.01 6 11 4 0.015 3 0 0 0 0 20.1 56698 chr6 38705682 38705682 C T rs9470924 DNAH8 Synonymous SNV A133A 0.014 0.008 0.017 4 16 3 0.01 5 0 0 0 0 Benign 12.45 56699 chr6 31106500 31106500 - C rs138474986 PSORS1C1 Frameshift insertion H40Pfs*3 0.07 0.065 0.048 12 82 25 0.031 14 32 10 6 5 56700 chr2 136107777 136107777 G A rs61744510 ZRANB3 Nonsynonymous SNV S123L 0.111 0.109 0.109 43 130 42 0.11 32 5 2 3 2 22.5 56701 chr6 107390955 107390955 G A rs75435915 BEND3 Synonymous SNV L480L 0.018 0.01 0.014 5 21 4 0.013 4 1 0 0 0 Benign 6.391 56702 chr17 11701104 11701104 G A rs61740362 DNAH9 Nonsynonymous SNV R2805H 0.007 0.018 0.014 4 8 7 0.01 4 0 0 0 0 3.254 56703 chr17 54588393 54588393 C T rs186058348 ANKFN1 Synonymous SNV H1000H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.46 56704 chr17 54588401 54588401 G A rs146104146 ANKFN1 Nonsynonymous SNV S1003N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 19.18 56705 chr17 39593722 39593722 C T rs56120541 KRT38 Nonsynonymous SNV G438D 0.021 0.034 0.017 16 25 13 0.041 5 0 0 0 0 1.299 56706 chr5 140236552 140236552 A G rs782128989 PCDHA10 Nonsynonymous SNV I307V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 12.39 56707 chr6 33695905 33695905 G C rs200081230 IP6K3 Synonymous SNV A124A 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.095 56708 chr6 33744814 33744814 G A rs139504669 LEMD2 Synonymous SNV Y124Y 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 9.584 56709 chr17 64125930 64125930 C T rs375548825 CEP112 Synonymous SNV S192S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 56710 chr17 1183662 1183662 C T TRARG1 Nonsynonymous SNV P123S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 56711 chr2 139655338 139655338 T - rs34348924 YY1P2 0 0 0.252 0 0 0 0 74 0 0 35 0 56712 chr17 55822342 55822342 T G rs145543944 CCDC182 Synonymous SNV R98R 0.009 0.01 0.014 3 11 4 0.008 4 0 0 0 0 5.67 56713 chr5 140254984 140254984 C T rs62622796 LOC112267934 0.01 0.01 0 8 12 4 0.021 0 0 0 0 0 7.242 56714 chr17 13504276 13504276 G T rs111255219 HS3ST3A1 Synonymous SNV S57S 0.003 0.013 0.017 2 3 5 0.005 5 0 0 0 0 16.51 56715 chr6 41533573 41533573 G A rs34730847 FOXP4 Synonymous SNV G25G 0.071 0.052 0.054 20 83 20 0.051 16 3 0 0 0 5.193 56716 chr17 13504408 13504408 C A rs28663356 HS3ST3A1 Synonymous SNV S13S 0.003 0.013 0.02 2 4 5 0.005 6 0 0 0 0 13.05 56717 chr17 56348226 56348226 T G rs35897051 MPO 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 Pathogenic 25.1 56718 chr5 140308681 140308681 C T rs113293568 PCDHAC1 Nonsynonymous SNV P735L 0.01 0.01 0.01 8 12 4 0.021 3 0 0 0 0 6.608 56719 chr2 149227542 149227542 G A rs114314967 MBD5 Nonsynonymous SNV S677N 0.007 0.008 0.02 0 8 3 0 6 0 0 0 0 Benign/Likely benign 8.143 56720 chr17 14248376 14248376 A G rs62056073 HS3ST3B1 Nonsynonymous SNV I196V 0.019 0.031 0.014 4 22 12 0.01 4 0 0 0 0 12.08 56721 chr17 39642805 39642805 A G rs72832087 KRT36 Synonymous SNV C409C 0.023 0.034 0.014 16 27 13 0.041 4 0 0 0 0 0.05 56722 chr5 140755510 140755510 C T rs111303338 PCDHGA6 Synonymous SNV G620G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.448 56723 chr5 140755901 140755901 C A rs11575955 PCDHGA6 Nonsynonymous SNV Q751K 0.009 0.008 0.01 0 10 3 0 3 0 0 0 0 23 56724 chr6 35705853 35705853 G A rs151133317 ARMC12 Synonymous SNV R71R 0.02 0.01 0.017 2 23 4 0.005 5 0 0 0 0 12.5 56725 chr17 15234553 15234553 G A rs376822371 TEKT3 Nonsynonymous SNV S117L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 56726 chr6 35763551 35763551 C T rs142530335 CLPS Nonsynonymous SNV R55H 0.026 0.016 0.007 10 31 6 0.026 2 0 0 0 0 25.7 56727 chr17 6545083 6545083 C A rs534123177 TXNDC17 Synonymous SNV V52V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 56728 chr17 65733661 65733661 A G rs142174717 NOL11 Nonsynonymous SNV K237R 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 22.8 56729 chr2 152417767 152417767 C A rs115631125 NEB Synonymous SNV T4651T 0.017 0.018 0.014 3 20 7 0.008 4 0 0 0 0 Benign/Likely benign 12.04 56730 chr5 140800956 140800956 G A rs200646513 PCDHGA11 Synonymous SNV G54G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.755 56731 chr17 66270082 66270082 A G rs35397826 SLC16A6 Nonsynonymous SNV I121T 0.111 0.107 0.109 51 130 41 0.131 32 3 3 3 1 21.6 56732 chr2 152515585 152515585 C T rs184262608 NEB Nonsynonymous SNV M2023I 0.003 0.003 0.014 3 3 1 0.008 4 0 0 0 0 Benign/Likely benign 17.95 56733 chr17 59482723 59482723 G A rs140610908 TBX2 Synonymous SNV R404R 0.018 0.016 0.01 3 21 6 0.008 3 0 0 0 0 Benign 12.93 56734 chr2 152520258 152520258 C T rs141930814 NEB Nonsynonymous SNV R1856Q 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 Benign/Likely benign 26.2 56735 chr6 36651971 36651971 C A rs1801270 CDKN1A Nonsynonymous SNV S31R 0.073 0.076 0.065 26 86 29 0.067 19 0 0 0 1 Benign 0.002 56736 chr6 36685843 36685843 A G rs866946644 RAB44 Nonsynonymous SNV Y227C 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 22.5 56737 chr17 59489871 59489877 GGCCTCG - rs201168857 C17orf82 0.02 0.016 0.017 4 23 6 0.01 5 0 0 0 0 56738 chr2 152536299 152536299 T C rs187343008 NEB Nonsynonymous SNV Y1064C 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 Benign/Likely benign 24.4 56739 chr17 6665338 6665338 G A rs774793013 XAF1 Nonsynonymous SNV A38T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.843 56740 chr6 36689981 36689981 - TCAGAGCAG RAB44 S697_V698insEQS 0.001 0.005 0 0 1 2 0 0 0 0 0 0 56741 chr17 17069199 17069199 C A rs79436844 MPRIP Nonsynonymous SNV Q1464K 0.029 0.039 0.051 12 34 15 0.031 15 1 0 1 0 22 56742 chr2 153378462 153378462 T C rs138926754 FMNL2 Synonymous SNV A41A 0.007 0.013 0.007 1 8 5 0.003 2 0 0 0 0 9.127 56743 chr2 15468407 15468407 G A rs746384730 NBAS Synonymous SNV I1459I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.401 56744 chr6 116784850 116784850 C G rs41289932 CALHM6 Nonsynonymous SNV N138K 0.038 0.029 0.031 8 45 11 0.021 9 2 2 0 0 0.951 56745 chr6 43166412 43166414 GGG - rs3215697 CUL9 G958del 0.046 0.047 0.051 16 54 18 0.041 15 2 0 2 0 56746 chr6 43167790 43167790 C A rs767001216 CUL9 Nonsynonymous SNV Q1094K 0 0 0 2 0 0 0.005 0 0 0 0 0 15.27 56747 chr6 43172734 43172734 T A CUL9 Nonsynonymous SNV Y1505N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 31 56748 chr6 37616846 37616846 G C rs142960358 MDGA1 Synonymous SNV L602L 0.011 0.01 0.007 2 13 4 0.005 2 0 0 0 0 12.12 56749 chr17 61570992 61570992 C A rs142947404 ACE Nonsynonymous SNV N462K 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Uncertain significance 23.2 56750 chr6 117113315 117113315 G A rs41290852 GPRC6A Nonsynonymous SNV S853L 0.014 0.008 0.007 3 16 3 0.008 2 0 0 0 0 23.1 56751 chr6 117113761 117113761 - GG rs550458778 GPRC6A Frameshift insertion E705Lfs*19 0.064 0.039 0.071 24 75 15 0.062 21 2 0 1 0 56752 chr6 117113762 117113762 - A rs371464745 GPRC6A Frameshift insertion Y704Lfs*2 0.064 0.039 0.071 24 75 15 0.062 21 2 0 1 0 56753 chr6 117113765 117113765 - TCC rs111974433 GPRC6A G702_K703insR 0.064 0.039 0.071 24 75 15 0.062 21 2 0 1 0 56754 chr5 145523876 145523876 G A rs114307562 LARS Synonymous SNV T518T 0.01 0.023 0.007 5 12 9 0.013 2 0 0 0 0 Benign 11.46 56755 chr5 145887453 145887453 G A rs12186370 TCERG1 Synonymous SNV T955T 0.117 0.122 0.102 49 137 47 0.126 30 10 0 2 3 10.98 56756 chr6 43400342 43400342 T G rs45535935 ABCC10 Nonsynonymous SNV D165E 0.044 0.044 0.058 14 52 17 0.036 17 2 1 2 0 0.001 56757 chr2 160005762 160005762 T C rs193207814 TANC1 Synonymous SNV I123I 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 8.351 56758 chr6 117150008 117150008 G A rs6907580 GPRC6A Stop gain R57X 0.052 0.031 0.065 19 61 12 0.049 19 1 0 0 0 35 56759 chr17 18039138 18039138 C T rs188269446 MYO15A Synonymous SNV T1532T 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.06 56760 chr5 145895558 145895558 G A rs17104742 GPR151 Nonsynonymous SNV P40L 0.117 0.122 0.109 49 137 47 0.126 32 9 0 3 3 16.35 56761 chr17 4045986 4045986 G A rs111724159 ZZEF1 Synonymous SNV P68P 0.018 0.003 0.017 7 21 1 0.018 5 1 0 0 0 10.08 56762 chr6 117686840 117686840 T C rs2229078 ROS1 Synonymous SNV E959E 0.033 0.034 0.031 13 39 13 0.033 9 0 0 0 0 1.268 56763 chr17 6920257 6920257 C T rs11078662 C17orf49 Synonymous SNV S112S 0.027 0.029 0.031 9 32 11 0.023 9 1 0 1 0 15.54 56764 chr6 39278756 39278756 C T rs143146161 KCNK17 Nonsynonymous SNV A89T 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 10.58 56765 chr17 70645032 70645032 G A rs61736066 SLC39A11 Nonsynonymous SNV A287V 0.037 0.023 0.041 18 43 9 0.046 12 0 0 0 0 23.2 56766 chr17 17718150 17718150 G A rs143021204 SREBF1 Synonymous SNV T843T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.335 56767 chr2 162821644 162821644 C T rs61748243 SLC4A10 Synonymous SNV P961P 0.007 0 0.003 5 8 0 0.013 1 0 0 0 0 Benign 17.68 56768 chr17 4109722 4109722 G A rs3744671 ANKFY1 Synonymous SNV L306L 0.027 0.016 0.031 11 32 6 0.028 9 1 0 0 1 11.5 56769 chr2 162876768 162876768 G A rs2302872 DPP4 Synonymous SNV I405I 0.003 0 0.003 7 4 0 0.018 1 0 0 0 0 14.68 56770 chr17 41108454 41108454 T G rs147982581 AARSD1, PTGES3L-AARSD1 Synonymous SNV R171R 0.008 0.01 0.003 10 9 4 0.026 1 0 0 0 0 7.536 56771 chr6 45916999 45916999 G T rs35822882 CLIC5 Nonsynonymous SNV P257H 0.014 0.026 0.01 7 17 10 0.018 3 0 0 0 0 Benign/Likely benign 31 56772 chr6 122773119 122773119 T C rs17260829 SERINC1 Nonsynonymous SNV S225G 0.029 0.034 0.037 7 34 13 0.018 11 0 0 0 0 8.546 56773 chr17 18024532 18024532 C T rs564053026 MYO15A Synonymous SNV F806F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.922 56774 chr17 18862551 18862551 A T rs148178887 SLC5A10 Nonsynonymous SNV N96I 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 28.8 56775 chr17 18047819 18047819 C A rs141475629 MYO15A Synonymous SNV A2062A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.47 56776 chr17 18881091 18881091 G A rs201046878 FAM83G Nonsynonymous SNV R630W 0.01 0.013 0.01 4 12 5 0.01 3 0 0 0 0 29.8 56777 chr17 41165632 41165632 G A rs150695787 IFI35 Nonsynonymous SNV R172Q 0.042 0.052 0.031 18 49 20 0.046 9 1 1 0 0 Benign 24.5 56778 chr17 650206 650206 C T rs3744742 GEMIN4 Synonymous SNV A359A 0.052 0.057 0.085 17 61 22 0.044 25 0 0 1 1 3.676 56779 chr2 166535615 166535615 C G rs61747278 CSRNP3 Nonsynonymous SNV D370E 0.032 0.036 0.061 19 38 14 0.049 18 0 0 0 0 0.001 56780 chr17 1943099 1943099 C G rs80150196 DPH1 Nonsynonymous SNV P109R 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Benign 28.4 56781 chr17 18141807 18141807 G A rs111836247 LLGL1 Nonsynonymous SNV C697Y 0 0.005 0.014 3 0 2 0.008 4 0 0 0 0 Benign 23.8 56782 chr6 127837067 127837067 G A rs201019413 SOGA3 Synonymous SNV S231S 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 9.747 56783 chr17 18144013 18144013 C T rs112697370 LLGL1 Synonymous SNV A776A 0 0.005 0.007 3 0 2 0.008 2 0 0 0 0 Benign 16.59 56784 chr17 18144172 18144172 T C rs76973089 LLGL1 Synonymous SNV S829S 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 Benign 8.493 56785 chr17 18148965 18148965 G A rs77506546 FLII Synonymous SNV N1116N 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Likely benign 6.811 56786 chr17 18181592 18181592 C T rs9909732 TOP3A Nonsynonymous SNV D647N 0 0.005 0.014 3 0 2 0.008 4 0 0 0 0 22.5 56787 chr6 129571330 129571330 G A rs3816665 LAMA2 Nonsynonymous SNV R619H 0.116 0.133 0.15 61 136 51 0.156 44 11 4 2 7 Benign 0.771 56788 chr17 18194248 18194248 C T rs28671051 TOP3A Nonsynonymous SNV D364N 0.007 0.01 0.02 3 8 4 0.008 6 0 0 0 0 23.5 56789 chr17 18220761 18220761 G A rs9911649 SMCR8 Nonsynonymous SNV G553E 0.006 0.01 0.02 7 7 4 0.018 6 0 0 0 0 0.151 56790 chr5 149212510 149212510 C A rs11959820 PPARGC1B Nonsynonymous SNV R253S 0.053 0.052 0.024 21 62 20 0.054 7 2 0 0 2 33 56791 chr2 168100911 168100911 A C rs375898861 XIRP2 Synonymous SNV T781T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 56792 chr5 149360630 149360630 C T rs78676079 SLC26A2 Nonsynonymous SNV R492W 0.02 0.013 0.014 9 24 5 0.023 4 0 0 0 0 Benign/Likely benign 34 56793 chr17 71752586 71752586 A C rs532127858 LOC100134391 0 0.003 0 0 0 1 0 0 0 0 0 0 0.849 56794 chr2 168105758 168105758 G A rs115922984 XIRP2 Nonsynonymous SNV R2397Q 0.003 0.008 0.01 3 3 3 0.008 3 0 0 0 0 Benign 8.06 56795 chr17 6683871 6683871 C A rs10401001 FBXO39 Synonymous SNV S228S 0.01 0.005 0.01 2 12 2 0.005 3 0 0 0 0 7.209 56796 chr17 19607432 19607432 C T rs34169093 SLC47A2 Synonymous SNV A323A 0.026 0.026 0.034 7 30 10 0.018 10 1 0 0 0 12.69 56797 chr17 66925324 66925324 C T rs4147979 ABCA8 Nonsynonymous SNV G331S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 20.5 56798 chr6 43096872 43096872 C T rs370691630 PTK7 Synonymous SNV F87F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.86 56799 chr6 49705091 49705091 G A rs151190811 CRISP3 Synonymous SNV L30L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.698 56800 chr2 169312974 169312974 G A rs4496303 CERS6 Nonsynonymous SNV A6T 0.012 0.021 0.007 2 14 8 0.005 2 0 0 0 0 24.7 56801 chr5 149584133 149584133 C T rs370172070 SLC6A7 Synonymous SNV S457S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.1 56802 chr17 21101734 21101734 C T rs757380574 TMEM11 Nonsynonymous SNV R161Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 56803 chr2 169824983 169824983 T C rs11568364 ABCB11 Nonsynonymous SNV M677V 0.03 0.023 0.034 12 35 9 0.031 10 1 0 1 1 Benign/Likely benign 0.002 56804 chr17 42925608 42925608 C T rs79451908 HIGD1B Synonymous SNV L30L 0.01 0.005 0.007 11 12 2 0.028 2 0 0 0 0 13.64 56805 chr2 169842746 169842746 T C rs7563233 ABCB11 Synonymous SNV G319G 0.028 0.023 0.037 13 33 9 0.033 11 1 0 0 0 Benign 6.396 56806 chr17 42989063 42989063 C T rs1126642 GFAP Nonsynonymous SNV D295N 0.019 0.021 0.024 16 22 8 0.041 7 3 0 0 0 Benign 29.3 56807 chr17 67280137 67280137 G A rs373892252 ABCA5 Synonymous SNV D783D 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 11.4 56808 chr17 7246851 7246851 C T rs3809828 ACAP1 Synonymous SNV Y166Y 0.042 0.06 0.061 19 49 23 0.049 18 0 1 1 0 8.609 56809 chr6 135716008 135716008 T C rs41287054 AHI1 Synonymous SNV S1005S 0.043 0.036 0.044 20 50 14 0.051 13 2 0 0 1 Benign/Likely benign 6.553 56810 chr17 72588801 72588801 C T rs148306662 C17orf77 Nonsynonymous SNV P206S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 56811 chr17 6930139 6930139 C T rs61731750 BCL6B Synonymous SNV G390G 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 13.42 56812 chr17 6945940 6945940 A G rs13342232 SLC16A11 Synonymous SNV L163L 0.009 0.01 0.041 2 10 4 0.005 12 1 0 1 0 0.023 56813 chr17 44061025 44061025 C T rs63750222 MAPT Synonymous SNV D285D 0.118 0.115 0.085 42 138 44 0.108 25 30 7 4 6 Benign 8.599 56814 chr17 6946287 6946287 T C rs13342692 SLC16A11 Nonsynonymous SNV D103G 0.01 0.01 0.041 2 12 4 0.005 12 1 0 1 0 13.23 56815 chr17 72851153 72851153 C T rs546290434 GRIN2C Nonsynonymous SNV E27K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.633 56816 chr17 4462176 4462176 - G GGT6 Frameshift insertion T174Hfs*34 0.001 0 0 2 1 0 0.005 0 0 0 0 0 56817 chr6 54804879 54804879 C T rs13208146 FAM83B Synonymous SNV N370N 0.014 0.023 0.017 7 17 9 0.018 5 0 1 0 0 0.64 56818 chr6 139071275 139071275 T C rs77069059 GVQW2 0.011 0.016 0 3 13 6 0.008 0 6 3 0 1 4.739 56819 chr6 54804998 54804998 A G rs13211183 FAM83B Nonsynonymous SNV N410S 0.014 0.023 0.017 7 17 9 0.018 5 0 1 0 0 0.131 56820 chr5 150928934 150928934 C T rs10044879 FAT2 Nonsynonymous SNV G1571S 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 27.1 56821 chr5 150932802 150932802 C T rs2304023 FAT2 Synonymous SNV V1364V 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 13.01 56822 chr6 55988870 55988870 G C rs192244210 COL21A1 Nonsynonymous SNV P580R 0.009 0.01 0 6 11 4 0.015 0 1 1 0 1 Benign 22.9 56823 chr2 171627219 171627219 C T rs73019479 ERICH2 Nonsynonymous SNV P10S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.23 56824 chr2 171627317 171627317 G C rs112043822 ERICH2 Synonymous SNV A42A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.873 56825 chr2 171713564 171713564 C T rs769392 GAD1 Synonymous SNV L484L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 15.31 56826 chr6 46977277 46977277 G A rs16875406 ADGRF1 Synonymous SNV L632L 0.057 0.057 0.027 21 67 22 0.054 8 3 1 0 1 4.779 56827 chr2 171822525 171822525 C T rs116256976 GORASP2 Nonsynonymous SNV T347M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.161 56828 chr2 172325498 172325498 G A rs61731491 DCAF17 Synonymous SNV Q313Q 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Benign/Likely benign 9.806 56829 chr2 173600898 173600898 C T rs746615890 RAPGEF4-AS1 0.003 0 0.01 1 3 0 0.003 3 1 0 0 0 21.5 56830 chr17 46000406 46000406 T C rs62067380 SP2 Nonsynonymous SNV S380P 0.139 0.18 0.133 67 163 69 0.172 39 20 8 3 4 18.36 56831 chr5 150946434 150946434 T C rs150891608 FAT2 Nonsynonymous SNV I687V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 56832 chr6 56918243 56918243 A G rs770800805 KIAA1586 Nonsynonymous SNV I289V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.004 56833 chr17 7320874 7320874 C T rs62061174 NLGN2 Nonsynonymous SNV A755V 0.049 0.049 0.041 22 58 19 0.056 12 1 0 1 1 19.92 56834 chr17 2275635 2275635 - G rs902394330 SGSM2 0.001 0 0 0 1 0 0 0 0 0 0 0 56835 chr5 151043027 151043027 C T rs574793836 SPARC Nonsynonymous SNV V339M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.8 56836 chr17 46628323 46628323 G A HOXB3 Synonymous SNV N223N 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 6.984 56837 chr5 153857101 153857101 A C rs34402828 HAND1 Synonymous SNV S156S 0.089 0.104 0.068 31 104 40 0.079 20 4 2 0 0 Benign 0.723 56838 chr17 73512653 73512653 G T rs7216673 TSEN54 Nonsynonymous SNV E4D 0.13 0.125 0.037 46 153 48 0.118 11 72 20 5 20 Benign 0.062 56839 chr17 27031091 27031091 C T rs199919141 PROCA1 Nonsynonymous SNV A50T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 0.172 56840 chr17 45232126 45232126 G T rs138789655 CDC27 Nonsynonymous SNV P187Q 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 26.3 56841 chr17 72365698 72365698 G A rs145323799 GPR142 Nonsynonymous SNV G7R 0.009 0 0.003 2 11 0 0.005 1 0 0 0 0 18.61 56842 chr2 179469715 179469715 A G rs2303834 TTN Synonymous SNV Y8998Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.28 56843 chr6 74063070 74063070 G C rs73754622 DPPA5 Synonymous SNV A108A 0.024 0.023 0.007 7 28 9 0.018 2 0 0 0 0 0.784 56844 chr17 72368383 72368383 C A rs144235997 GPR142 Synonymous SNV R257R 0.022 0.029 0.02 7 26 11 0.018 6 1 0 0 0 Benign 11.07 56845 chr5 156514189 156514189 G A rs72805186 HAVCR2 Nonsynonymous SNV P277L 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Benign 20.3 56846 chr5 156590154 156590154 C T rs151157730 FAM71B Synonymous SNV A374A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.44 56847 chr17 2290222 2290222 G A rs61733100 MNT Synonymous SNV F574F 0.08 0.07 0.068 33 94 27 0.085 20 3 0 1 1 7.589 56848 chr17 47788755 47788755 G A rs34759387 FAM117A Synonymous SNV P408P 0.028 0.021 0.034 12 33 8 0.031 10 1 0 0 0 1.316 56849 chr17 73870977 73870977 A C rs140656782 TRIM47 Nonsynonymous SNV F502V 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 21.7 56850 chr17 72758210 72758210 C T rs2305216 SLC9A3R1 Synonymous SNV N167N 0.041 0.047 0.044 23 48 18 0.059 13 2 1 0 1 13.81 56851 chr17 25877722 25877722 G A rs56367532 KSR1 Synonymous SNV P120P 0.007 0.005 0.014 9 8 2 0.023 4 0 0 0 0 19.82 56852 chr17 72769739 72769739 A G rs2305213 NAT9 Nonsynonymous SNV C25R 0.071 0.083 0.061 31 83 32 0.079 18 4 1 1 2 6.021 56853 chr17 29298395 29298395 C T RNF135 Nonsynonymous SNV P102S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.034 56854 chr17 4797305 4797305 G A rs2302319 MINK1 Nonsynonymous SNV V826I 0.095 0.094 0.071 38 111 36 0.097 21 5 3 1 2 20.3 56855 chr17 4802144 4802144 T C CHRNE Nonsynonymous SNV I457V 0.001 0 0 7 1 0 0.018 0 0 0 0 1 2.799 56856 chr17 48072207 48072207 C T rs772919297 DLX3 Synonymous SNV S52S 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 19.34 56857 chr6 75834971 75834971 T A rs35523808 COL12A1 Nonsynonymous SNV E996V 0.043 0.047 0.051 20 50 18 0.051 15 2 1 1 0 Benign 26.8 56858 chr6 75844458 75844458 C T rs77425231 COL12A1 Synonymous SNV T672T 0.002 0.013 0 4 2 5 0.01 0 0 0 0 0 Benign 16.76 56859 chr2 179645957 179645957 T C rs777365068 TTN Synonymous SNV E1092E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 4.556 56860 chr6 75875326 75875326 C T rs374531525 COL12A1 Synonymous SNV T960T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 14.46 56861 chr6 151790071 151790071 A C rs142746071 ARMT1 Synonymous SNV P265P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.257 56862 chr17 27044004 27044004 C T rs11545699 RAB34 Nonsynonymous SNV E169K 0.01 0.013 0.007 3 12 5 0.008 2 0 0 0 0 16.34 56863 chr17 4837118 4837195 AGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC - GP1BA S428_T453del 0.083 0.073 0.014 28 97 28 0.072 4 6 1 0 2 56864 chr6 79577412 79577412 C G rs41269339 IRAK1BP1 Nonsynonymous SNV P40R 0.059 0.047 0.044 19 69 18 0.049 13 4 0 0 1 1.121 56865 chr17 46894356 46894356 G A rs201192910 TTLL6 Stop gain R27X 0.006 0.003 0 0 7 1 0 0 0 0 0 0 35 56866 chr17 48594691 48594691 G A rs61749930 MYCBPAP Nonsynonymous SNV R81H 0.036 0.036 0.031 11 42 14 0.028 9 0 0 0 0 6.708 56867 chr2 182399073 182399073 A G ITGA4 Synonymous SNV L953L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 56868 chr2 182542624 182542624 C T rs754458532 NEUROD1 Nonsynonymous SNV A322T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 56869 chr17 74208560 74208560 C T rs145563025 RNF157 Nonsynonymous SNV S31N 0.008 0.013 0.01 11 9 5 0.028 3 0 0 0 0 13.04 56870 chr17 27957939 27957939 C T rs61737980 SSH2 Nonsynonymous SNV G1398S 0.02 0.016 0.051 5 23 6 0.013 15 1 0 0 0 21.4 56871 chr17 32904430 32904430 C T rs118150413 C17orf102 0.022 0.005 0.031 5 26 2 0.013 9 1 0 0 0 6.338 56872 chr6 83848858 83848858 C T rs79185992 DOP1A Synonymous SNV Y1690Y 0.01 0.005 0.014 3 12 2 0.008 4 1 1 0 0 0.765 56873 chr2 183608374 183608374 A G rs11681366 DNAJC10 Nonsynonymous SNV Y368C 0.013 0.01 0.014 2 15 4 0.005 4 0 0 0 0 26 56874 chr6 86324792 86324792 G A rs149887697 SYNCRIP Synonymous SNV R420R 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 7.698 56875 chr17 4883588 4883588 G A rs117276029 CAMTA2 Synonymous SNV H345H 0.026 0.023 0.017 14 31 9 0.036 5 0 0 0 1 Benign 0.473 56876 chr6 153315695 153315695 C T rs3192723 MTRF1L Nonsynonymous SNV V214I 0.114 0.104 0.109 54 134 40 0.138 32 6 2 2 4 11.41 56877 chr6 153316326 153316326 A G rs3734467 MTRF1L Synonymous SNV Y156Y 0.059 0.055 0.044 36 69 21 0.092 13 2 0 1 4 0.106 56878 chr17 33445549 33445549 G A rs9901455 RAD51D Synonymous SNV S78S 0.089 0.112 0.112 27 105 43 0.069 33 5 1 2 0 Benign/Likely benign 22.8 56879 chr6 89790742 89790742 C G rs145119263 PNRC1 Synonymous SNV P43P 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 11.42 56880 chr6 89793894 89793894 G C rs1130809 PNRC1 Synonymous SNV T321T 0.115 0.104 0.136 41 135 40 0.105 40 13 5 2 3 5.8 56881 chr5 171533665 171533665 G A rs115634318 STK10 Synonymous SNV I249I 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 8.747 56882 chr6 70733547 70733547 C G rs2273426 COL19A1 Nonsynonymous SNV A352G 0.084 0.102 0.109 36 99 39 0.092 32 4 4 2 4 22.9 56883 chr5 172750392 172750392 G A rs6861827 STC2 Synonymous SNV H112H 0.054 0.055 0.054 14 63 21 0.036 16 0 1 0 0 3.694 56884 chr6 158450045 158450045 A G rs529031448 SYNJ2 Nonsynonymous SNV N158D 0.005 0 0 0 6 0 0 0 0 0 0 0 9.295 56885 chr17 7484790 7484790 C T rs140596584 CD68 Synonymous SNV C315C 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 18.51 56886 chr17 3195529 3195529 G C rs764736374 OR3A1 Nonsynonymous SNV F116L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 56887 chr2 186671423 186671423 A G rs200489982 FSIP2 Nonsynonymous SNV Q5797R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.45 56888 chr17 5329606 5329606 C G RPAIN Nonsynonymous SNV S159C 0.001 0 0 7 1 0 0.018 0 0 0 0 1 22.9 56889 chr17 5354204 5354204 G C rs11653658 DHX33 Nonsynonymous SNV H310D 0.101 0.091 0.082 29 118 35 0.074 24 7 3 1 2 13.96 56890 chr17 5356913 5356913 C T rs16954697 DHX33 Synonymous SNV S288S 0.17 0.161 0.156 49 200 62 0.126 46 14 6 4 6 18.43 56891 chr6 96034560 96034560 C T rs62417812 MANEA Nonsynonymous SNV T82I 0.052 0.078 0.088 22 61 30 0.056 26 0 4 4 0 11.67 56892 chr17 5404062 5404062 C T rs116516994 LOC728392 Nonsynonymous SNV R72H 0.132 0.117 0.116 44 155 45 0.113 34 9 3 1 3 17.07 56893 chr6 96034612 96034612 G A rs62417813 MANEA Synonymous SNV L99L 0.052 0.076 0.088 22 61 29 0.056 26 0 3 4 0 7.663 56894 chr17 74383601 74383601 C T rs346802 SPHK1 Synonymous SNV S363S 0.048 0.047 0.054 20 56 18 0.051 16 2 0 0 1 8.873 56895 chr2 189849623 189849623 G C rs200246388 COL3A1 Nonsynonymous SNV D73H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 56896 chr17 74465916 74465916 C T rs72466448 AANAT Nonsynonymous SNV A163V 0.017 0.013 0.01 5 20 5 0.013 3 0 0 0 0 1.186 56897 chr17 74901387 74901387 T G MGAT5B Nonsynonymous SNV L287R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.6 56898 chr6 99936565 99936565 C G USP45 Nonsynonymous SNV V204L 0.007 0 0 2 8 0 0.005 0 0 0 0 0 27.7 56899 chr2 196673569 196673569 G C rs144112024 DNAH7 Nonsynonymous SNV T3307S 0.006 0 0.01 3 7 0 0.008 3 0 0 0 0 28.3 56900 chr6 87725837 87725837 C T rs6303 HTR1E Nonsynonymous SNV S262F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 56901 chr6 106959424 106959424 A G rs4946758 CRYBG1 Synonymous SNV S144S 0.129 0.083 0.184 51 152 32 0.131 54 16 1 4 5 4.865 56902 chr6 88231226 88231226 T C rs3757370 RARS2 Nonsynonymous SNV I156V 0.009 0.01 0.037 2 11 4 0.005 11 0 0 1 0 Benign 16.44 56903 chr6 106960039 106960039 G A rs4945755 CRYBG1 Synonymous SNV E349E 0.129 0.086 0.177 51 152 33 0.131 52 17 1 4 5 9.521 56904 chr17 58508618 58508618 T C rs3760332 C17orf64 Synonymous SNV T234T 0.023 0.018 0.054 18 27 7 0.046 16 0 1 1 1 0.011 56905 chr6 106960447 106960447 G A rs11152999 CRYBG1 Synonymous SNV E77E 0.129 0.081 0.18 50 152 31 0.128 53 17 1 4 5 12.39 56906 chr17 56388416 56388416 C T rs3744098 TSPOAP1 Synonymous SNV P1020P 0.012 0.026 0.014 4 14 10 0.01 4 0 0 0 0 9.215 56907 chr6 161137725 161137725 G A PLG Synonymous SNV R239R 0.005 0 0 0 6 0 0 0 0 0 0 0 9.574 56908 chr17 59924512 59924512 C T rs4988346 BRIP1 Nonsynonymous SNV V193I 0.011 0.008 0.027 6 13 3 0.015 8 0 0 0 0 Benign/Likely benign 0.002 56909 chr17 6013070 6013070 C T rs145271508 WSCD1 Synonymous SNV Y331Y 0.009 0.008 0.007 8 10 3 0.021 2 0 0 0 0 11.87 56910 chr2 202245423 202245423 A T rs34594680 TRAK2 Nonsynonymous SNV I863N 0.069 0.065 0.051 23 81 25 0.059 15 4 1 0 1 2.204 56911 chr17 59533955 59533955 C T rs148424252 TBX4 Nonsynonymous SNV A35V 0.009 0.01 0.007 5 10 4 0.013 2 0 0 0 1 Benign 15.64 56912 chr17 77709195 77709195 C T rs78253818 ENPP7 Synonymous SNV T251T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.68 56913 chr17 77755903 77755903 G C rs140051415 CBX2 Nonsynonymous SNV R197S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.61 56914 chr5 180477254 180477254 C - rs367635312 BTNL9 L208Cfs*27 0.019 0.01 0.01 4 22 4 0.01 3 0 0 0 0 56915 chr2 202358395 202358395 T C rs6743951 C2CD6 Nonsynonymous SNV N890S 0.068 0.065 0.054 23 80 25 0.059 16 4 1 0 1 0.439 56916 chr17 3664361 3664361 T C rs140947594 ITGAE Nonsynonymous SNV K182E 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 0.001 56917 chr2 202358589 202358589 G A rs73991611 C2CD6 Synonymous SNV F825F 0.067 0.065 0.054 23 79 25 0.059 16 4 1 0 1 5.446 56918 chr6 110620177 110620177 T C rs41288584 METTL24 Nonsynonymous SNV H48R 0.034 0.036 0.01 11 40 14 0.028 3 0 0 0 0 0.737 56919 chr2 202430584 202430584 G A rs73991652 C2CD6 Nonsynonymous SNV T282I 0.054 0.049 0.051 20 63 19 0.051 15 2 0 0 1 0.003 56920 chr17 36666258 36666258 C A ARHGAP23 Nonsynonymous SNV R1176S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 56921 chr6 166779464 166779464 G A rs12205572 MPC1 Synonymous SNV H58H 0.07 0.068 0.082 28 82 26 0.072 24 1 2 4 0 Benign 0.489 56922 chr2 204000407 204000407 A G rs771367200 NBEAL1 Nonsynonymous SNV Q1245R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.145 56923 chr17 77073901 77073901 G A rs117502073 ENGASE Nonsynonymous SNV R124Q 0.028 0.029 0.02 12 33 11 0.031 6 0 0 0 1 33 56924 chr6 167755148 167755148 T C rs149701744 TTLL2 Nonsynonymous SNV M587T 0.013 0.008 0.017 4 15 3 0.01 5 0 0 0 0 0.002 56925 chr6 1611802 1611802 - GGC rs545470261 FOXC1 G380_A381insG 0.075 0.057 0.136 44 88 22 0.113 40 20 5 7 11 56926 chr17 38927426 38927426 G A rs138515308 KRT26 Synonymous SNV T168T 0.009 0.008 0.02 3 10 3 0.008 6 0 0 0 1 11.02 56927 chr17 77710990 77710990 C T rs139719997 ENPP7 Nonsynonymous SNV R393W 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 28.4 56928 chr17 37627387 37627387 A G rs56158954 CDK12 Synonymous SNV S434S 0.013 0.023 0.01 8 15 9 0.021 3 0 0 0 0 0.307 56929 chr2 206305262 206305262 A G rs61741390 PARD3B Synonymous SNV R901R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.111 56930 chr2 206480353 206480353 C A rs80119103 PARD3B Nonsynonymous SNV P1076H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 26.2 56931 chr17 63189687 63189687 C T rs12452285 RGS9 Nonsynonymous SNV S255L 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 Benign 9.265 56932 chr6 105776792 105776792 G A rs6902415 PREP Synonymous SNV F375F 0.07 0.102 0.095 32 82 39 0.082 28 5 2 1 0 5.709 56933 chr17 78318717 78318717 G A rs140158248 RNF213 Synonymous SNV P2194P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.13 56934 chr17 62518978 62518978 G A rs782087429 CEP95 Nonsynonymous SNV V128I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 56935 chr6 170169688 170169688 A G rs61738268 ERMARD Nonsynonymous SNV H245R 0.024 0.018 0.027 7 28 7 0.018 8 0 0 0 0 Benign 0.001 56936 chr6 5431340 5431340 A G rs11243011 FARS2 Nonsynonymous SNV N280S 0.197 0.224 0.197 68 231 86 0.174 58 22 8 6 4 Benign 12.8 56937 chr17 63554572 63554572 C T AXIN2 Nonsynonymous SNV R56K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.5 56938 chr6 108645099 108645099 C T rs847595 AFG1L Synonymous SNV A70A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 12.94 56939 chr6 170700170 170700170 C T rs138440511 FAM120B Nonsynonymous SNV R186C 0.009 0.005 0 0 11 2 0 0 0 0 0 0 24.7 56940 chr17 78166326 78166326 G A rs61751629 CARD14 Nonsynonymous SNV E185K 0.038 0.026 0.051 20 45 10 0.051 15 2 1 0 0 Benign 8.682 56941 chr2 208866349 208866349 T C rs75145077 PLEKHM3 Synonymous SNV E5E 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 1.06 56942 chr6 7373537 7373537 C T rs181758123 CAGE1 Synonymous SNV L369L 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 2.205 56943 chr6 7404756 7404756 T C rs56019062 RIOK1 Synonymous SNV L216L 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 3.463 56944 chr17 78195485 78195485 C T rs144562896 SLC26A11 Synonymous SNV S42S 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 11.41 56945 chr17 79167873 79167873 C A rs148653755 CEP131 Nonsynonymous SNV R725M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.8 56946 chr17 38715186 38715186 T C rs2228015 CCR7 Star tloss M1? 0.081 0.068 0.061 27 95 26 0.069 18 7 0 2 2 4.81 56947 chr2 209108317 209108317 C T rs34218846 IDH1 Nonsynonymous SNV V178I 0.058 0.042 0.109 16 68 16 0.041 32 1 1 1 0 Benign 23.5 56948 chr2 209113192 209113192 G A rs11554137 IDH1 Synonymous SNV G105G 0.058 0.042 0.109 16 68 16 0.041 32 1 1 1 0 Benign 11.39 56949 chr6 7578729 7578729 A G rs375412541 DSP Synonymous SNV L1006L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 11.76 56950 chr6 7581196 7581196 G A rs28763968 DSP Synonymous SNV R1591R 0.017 0.018 0.007 5 20 7 0.013 2 0 1 0 0 Benign/Likely benign 4.619 56951 chr6 121447551 121447551 A G rs182549460 TBC1D32 Nonsynonymous SNV C986R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 56952 chr17 6544421 6544421 G A rs142294143 TXNDC17 Nonsynonymous SNV V7M 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 Benign 23.4 56953 chr6 121642851 121642851 C T rs7767455 TBC1D32 Nonsynonymous SNV R82Q 0.075 0.081 0.082 32 88 31 0.082 24 4 1 1 0 10.3 56954 chr2 209353800 209353800 A G rs16841294 PTH2R Synonymous SNV V269V 0.078 0.057 0.082 35 92 22 0.09 24 2 0 1 1 12.01 56955 chr17 65907278 65907278 A G rs34038380 BPTF Nonsynonymous SNV K1093R 0.01 0.01 0.007 8 12 4 0.021 2 0 0 0 0 9.676 56956 chr2 210559865 210559865 G A rs35927101 MAP2 Nonsynonymous SNV G987R 0.007 0.003 0.014 9 8 1 0.023 4 0 0 0 0 24.7 56957 chr17 79504073 79504073 C T rs143561119 FSCN2 Synonymous SNV D506D 0.051 0.06 0.061 17 60 23 0.044 18 2 1 2 0 Benign 10.85 56958 chr2 210808171 210808171 A G rs549727900 UNC80 Nonsynonymous SNV Y2262C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 56959 chr6 126080616 126080616 A G rs139750401 HEY2 Nonsynonymous SNV T228A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 5.174 56960 chr17 79671332 79671332 T C rs112518314 MRPL12 Nonsynonymous SNV C45R 0.023 0.026 0.01 12 27 10 0.031 3 1 0 0 0 Benign 0.117 56961 chr17 39383323 39383334 CTGCTGCCAGCC - rs542786200 KRTAP9-2 Q142_C145del 0.031 0.042 0.044 19 36 16 0.049 13 0 0 0 0 56962 chr17 79769169 79769169 C G rs5386 GCGR Synonymous SNV A155A 0.064 0.083 0.054 27 75 32 0.069 16 4 1 0 1 11.76 56963 chr6 126332554 126332554 A G rs116913944 TRMT11 Nonsynonymous SNV I108V 0.032 0.042 0.027 14 37 16 0.036 8 1 0 0 0 19.09 56964 chr17 79089600 79089600 G A rs117102084 BAIAP2 Synonymous SNV P522P 0.009 0.013 0.007 7 11 5 0.018 2 0 0 0 0 Benign 12.33 56965 chr6 127608633 127608633 C T rs546749357 RNF146 Nonsynonymous SNV A292V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.98 56966 chr17 79169670 79169670 C T rs61741549 CEP131 Nonsynonymous SNV E661K 0.045 0.034 0.044 8 53 13 0.021 13 0 0 0 0 9.882 56967 chr6 13584360 13584360 T C rs778193163 SIRT5 Synonymous SNV I6I 0.01 0.003 0 0 12 1 0 0 0 0 0 0 0.285 56968 chr7 2566484 2566484 C T rs61743870 LFNG Synonymous SNV Y334Y 0.029 0.042 0.034 11 34 16 0.028 10 1 2 0 0 Benign 12.41 56969 chr2 215852417 215852417 G A rs145550325 ABCA12 Synonymous SNV G992G 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.96 56970 chr6 14131804 14131804 G A rs7743206 CD83 Synonymous SNV R69R 0.11 0.128 0.116 34 129 49 0.087 34 7 4 2 5 4.971 56971 chr2 218674614 218674614 C T rs13417442 TNS1 Synonymous SNV T1610T 0.097 0.076 0.075 35 114 29 0.09 22 7 2 0 4 19.32 56972 chr17 39551099 39551099 C T rs117612447 KRT31 0.015 0.018 0.02 5 18 7 0.013 6 0 0 0 0 26.7 56973 chr17 79564304 79564304 G T rs62074671 NPLOC4 Synonymous SNV T320T 0.113 0.125 0.122 35 133 48 0.09 36 13 2 2 1 12.2 56974 chr17 39577180 39577180 G A rs17737019 KRT37 Nonsynonymous SNV P434S 0.03 0.031 0.041 19 35 12 0.049 12 0 0 0 0 15.28 56975 chr17 79571751 79571751 C T rs112716983 NPLOC4 Synonymous SNV K219K 0.02 0.013 0.01 9 23 5 0.023 3 1 0 0 0 14.83 56976 chr6 132891675 132891675 C T rs41298393 TAAR6 Nonsynonymous SNV A72V 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 11.77 56977 chr17 79660595 79660595 T C rs200174222 HGS Nonsynonymous SNV L242P 0.004 0 0 5 5 0 0.013 0 0 0 0 0 32 56978 chr17 80332223 80332223 C G rs41344948 UTS2R Nonsynonymous SNV P8R 0.003 0.018 0 5 4 7 0.013 0 0 0 0 1 6.432 56979 chr6 121602785 121602785 T A rs79221470 TBC1D32 Nonsynonymous SNV S505C 0.016 0.008 0.007 5 19 3 0.013 2 0 0 0 0 11.83 56980 chr17 39465253 39465253 C T rs777158668 KRTAP16-1 Nonsynonymous SNV V85M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 56981 chr6 121602795 121602795 C T rs79788801 TBC1D32 Synonymous SNV L501L 0.015 0.008 0.007 5 18 3 0.013 2 0 0 0 0 11.37 56982 chr17 39521091 39521091 C G rs777408710 KRT33B Nonsynonymous SNV R346P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.8 56983 chr6 24454313 24454313 T C rs61748577 GPLD1 Nonsynonymous SNV N422S 0.015 0.008 0.01 5 18 3 0.013 3 0 0 0 0 0.001 56984 chr6 121625945 121625945 A G rs79040695 TBC1D32 Nonsynonymous SNV L242S 0.016 0.008 0 5 19 3 0.013 0 0 0 0 0 8.775 56985 chr17 7123838 7123838 C T rs28934585 ACADVL Nonsynonymous SNV P65L 0.003 0 0 6 3 0 0.015 0 0 0 0 0 Benign/Likely benign 5.22 56986 chr6 121638666 121638666 G A rs75747353 TBC1D32 Nonsynonymous SNV S157F 0.016 0.008 0.007 5 19 3 0.013 2 0 0 0 0 29.9 56987 chr17 39633881 39633881 C T KRT35 Nonsynonymous SNV R370Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 33 56988 chr7 5417093 5417093 G T rs60530083 TNRC18 Synonymous SNV R790R 0.02 0.01 0 4 23 4 0.01 0 0 0 0 0 6.929 56989 chr6 121638682 121638682 G A rs75540618 TBC1D32 Nonsynonymous SNV R152C 0.016 0.008 0.007 5 19 3 0.013 2 0 0 0 0 19.87 56990 chr17 79986366 79986366 C T rs767680794 LRRC45 Nonsynonymous SNV R407W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29 56991 chr17 39538184 39538184 G C rs3744390 KRT34 Synonymous SNV S147S 0.039 0.031 0.061 14 46 12 0.036 18 0 0 1 0 0.095 56992 chr17 39551763 39551763 G A rs112544857 KRT31 Nonsynonymous SNV A234V 0.037 0.031 0.054 14 43 12 0.036 16 0 0 1 0 23.3 56993 chr6 121642790 121642790 T C rs10499110 TBC1D32 Synonymous SNV Q102Q 0.016 0.01 0.01 5 19 4 0.013 3 0 0 0 0 0.003 56994 chr6 121642916 121642916 C T rs75082736 TBC1D32 Synonymous SNV R60R 0.016 0.01 0.01 5 19 4 0.013 3 0 0 0 0 14.19 56995 chr17 71434153 71434153 C T rs185450102 SDK2 Nonsynonymous SNV R289H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 34 56996 chr6 123698874 123698874 C T TRDN Synonymous SNV K412K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 15.04 56997 chr17 80045047 80045047 G C rs34179714 FASN Synonymous SNV A1102A 0.014 0.005 0.017 9 17 2 0.023 5 0 0 0 0 Benign 3.471 56998 chr17 80046726 80046726 C T rs778784961 FASN Synonymous SNV P777P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.597 56999 chr6 126210797 126210797 G A rs35223550 NCOA7 Nonsynonymous SNV G418R 0.007 0.005 0.007 5 8 2 0.013 2 0 0 0 0 22.9 57000 chr6 138201240 138201240 A C rs142253225 TNFAIP3 Nonsynonymous SNV T647P 0.019 0.005 0.02 5 22 2 0.013 6 0 0 0 0 Likely benign 9.304 57001 chr17 7189048 7189048 G A rs121434581 SLC2A4 Nonsynonymous SNV V383I 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 Uncertain significance 15.5 57002 chr17 39633978 39633978 C G rs376804357 KRT35 Nonsynonymous SNV E338Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 57003 chr6 26033608 26033608 G T rs145481087 HIST1H2AB Synonymous SNV I63I 0.019 0.01 0.007 3 22 4 0.008 2 0 0 0 0 9.94 57004 chr6 129571272 129571272 G A rs36044314 LAMA2 Nonsynonymous SNV G600R 0.033 0.026 0.01 2 39 10 0.005 3 0 0 0 0 Benign/Likely benign 32 57005 chr7 6548868 6548868 C T rs770312601 GRID2IP Synonymous SNV S616S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.87 57006 chr17 39974516 39974516 C G rs782684364 FKBP10 Synonymous SNV T189T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.009 57007 chr18 10487999 10487999 C T rs60421789 APCDD1 Synonymous SNV C503C 0.009 0.005 0.007 3 10 2 0.008 2 0 0 0 0 7.697 57008 chr17 39880966 39880966 G T rs34381648 HAP1 Stop gain S599X 0 0 0.007 1 0 0 0.003 2 0 0 0 0 35 57009 chr17 72771766 72771766 C G rs4788850 NAT9 Synonymous SNV V24V 0.055 0.06 0.061 26 65 23 0.067 18 0 1 1 1 12.95 57010 chr7 11521428 11521428 A G rs61996277 THSD7A Synonymous SNV Y668Y 0.06 0.055 0.065 34 70 21 0.087 19 1 0 0 2 4.321 57011 chr18 10759507 10759507 C T rs73946020 PIEZO2 Nonsynonymous SNV V1219M 0.009 0.01 0.003 8 10 4 0.021 1 0 0 0 0 Benign 22 57012 chr6 27216699 27216699 G T rs5030965 PRSS16 Nonsynonymous SNV S104I 0.072 0.06 0.088 27 84 23 0.069 26 3 1 1 0 20.8 57013 chr18 10759634 10759634 T G rs1050071254 MIR6788 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 57014 chr17 72851039 72851039 G A rs78349823 GRIN2C Nonsynonymous SNV L65F 0.009 0.003 0.003 8 11 1 0.021 1 0 0 0 0 Likely benign 24.5 57015 chr17 8215927 8215927 C T rs62637603 ARHGEF15 Synonymous SNV T190T 0.03 0.026 0.027 13 35 10 0.033 8 1 0 0 0 Benign 8.585 57016 chr17 4020432 4020432 C T rs117738178 ZZEF1 Synonymous SNV K176K 0.017 0.031 0.024 12 20 12 0.031 7 0 1 0 0 8.827 57017 chr17 8219113 8219113 C A rs147556222 ARHGEF15 Nonsynonymous SNV H488N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.3 57018 chr17 8221935 8221935 A G rs35204656 ARHGEF15 Synonymous SNV E609E 0.025 0.023 0.031 20 29 9 0.051 9 0 0 0 0 Benign 13.34 57019 chr17 72931898 72931898 T C rs368367098 OTOP3 Star tloss M1? 0.015 0.01 0.007 8 18 4 0.021 2 0 0 0 0 23.2 57020 chr17 39925733 39925733 G A rs17850807 JUP Synonymous SNV D135D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 8.697 57021 chr6 150184722 150184722 C T rs187967019 LRP11 Synonymous SNV V145V 0.035 0.023 0.024 18 41 9 0.046 7 0 0 0 0 12.1 57022 chr17 40717778 40717778 C T rs151074271 COASY Synonymous SNV H529H 0.018 0.021 0.017 1 21 8 0.003 5 2 0 0 0 Benign 17.48 57023 chr2 223160278 223160278 G A PAX3 Synonymous SNV D140D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 57024 chr17 72943253 72943253 G A rs36036654 OTOP3 Nonsynonymous SNV V417M 0.008 0 0 4 9 0 0.01 0 0 0 0 0 26.8 57025 chr6 138601300 138601300 C G ARFGEF3 Synonymous SNV T820T 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 0.043 57026 chr18 12955587 12955587 A G rs145679761 SEH1L Synonymous SNV K96K 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.835 57027 chr6 139170443 139170443 T C rs200148930 ECT2L Nonsynonymous SNV V314A 0.009 0.023 0 4 11 9 0.01 0 0 0 0 0 10.71 57028 chr17 40263477 40263477 G A rs16967493 DHX58 Synonymous SNV R69R 0.034 0.036 0.031 8 40 14 0.021 9 0 0 1 0 9.689 57029 chr17 40269816 40269816 G A rs79405527 KAT2A Synonymous SNV L436L 0.033 0.036 0.031 8 39 14 0.021 9 0 0 1 0 9.801 57030 chr17 41222975 41222975 C T rs1799967 BRCA1 Nonsynonymous SNV M1605I 0.014 0.013 0.014 6 17 5 0.015 4 0 0 0 0 Benign 21.2 57031 chr17 7319325 7319325 C T rs76733190 NLGN2 Synonymous SNV P511P 0.016 0.023 0.014 14 19 9 0.036 4 0 0 0 0 11.86 57032 chr7 17879484 17879484 T C rs35507251 SNX13 Synonymous SNV K435K 0.071 0.073 0.068 17 83 28 0.044 20 3 1 2 0 3.007 57033 chr6 151914265 151914265 T C rs17081470 CCDC170 Synonymous SNV L439L 0.06 0.044 0.088 25 70 17 0.064 26 1 0 1 1 1.931 57034 chr18 19154233 19154233 T C rs35087820 ESCO1 Nonsynonymous SNV N191S 0.023 0.036 0.024 9 27 14 0.023 7 0 0 0 1 0.005 57035 chr6 152464786 152464786 G A rs148376885 SYNE1 Nonsynonymous SNV P542L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 57036 chr6 152510429 152510429 G A rs139590550 SYNE1 Synonymous SNV R7682R 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 Benign/Likely benign 16.28 57037 chr2 228173675 228173675 A G rs200512461 COL4A3 Nonsynonymous SNV N1508S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.3 57038 chr18 21131654 21131654 C G NPC1 Nonsynonymous SNV D531H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 57039 chr17 41244429 41244429 C T rs4986852 BRCA1 Nonsynonymous SNV S993N 0.032 0.026 0.027 17 38 10 0.044 8 0 0 0 0 Benign 12.64 57040 chr6 153296370 153296370 G A rs7763565 FBXO5 Nonsynonymous SNV L118F 0.04 0.031 0.027 18 47 12 0.046 8 0 1 0 0 6.206 57041 chr2 230096675 230096675 G T rs528156607 PID1 Synonymous SNV R32R 0.029 0.044 0.003 8 34 17 0.021 1 0 0 0 0 0.319 57042 chr18 21750298 21750298 C T rs145164093 OSBPL1A Nonsynonymous SNV S291N 0.022 0.003 0.003 6 26 1 0.015 1 0 0 0 0 19.35 57043 chr2 230096676 230096676 C G rs540348737 PID1 Nonsynonymous SNV R32P 0.029 0.044 0.003 8 34 17 0.021 1 0 0 0 0 2.057 57044 chr17 73929161 73929161 G A rs187976260 FBF1 Nonsynonymous SNV P28S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.2 57045 chr18 12420423 12420423 C T rs150928266 PRELID3A Synonymous SNV D23D 0.018 0.016 0.007 5 21 6 0.013 2 0 0 0 0 11.07 57046 chr18 23731929 23731929 A G PSMA8 Nonsynonymous SNV I113V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.43 57047 chr7 23306155 23306155 C T GPNMB Synonymous SNV P358P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.565 57048 chr17 7400251 7400251 C T rs148413593 POLR2A Synonymous SNV L236L 0.007 0.005 0 0 8 2 0 0 0 0 0 0 13.08 57049 chr17 7400726 7400726 C T rs201628232 POLR2A Nonsynonymous SNV R291W 0.007 0.005 0 0 8 2 0 0 0 0 0 0 33 57050 chr2 231077683 231077683 C T rs41309088 SP110 Nonsynonymous SNV G126S 0.02 0.016 0.031 7 23 6 0.018 9 0 0 0 0 Benign/Likely benign 18.32 57051 chr17 41738823 41738823 G A rs9898682 MEOX1 Nonsynonymous SNV S27L 0.078 0.081 0.034 33 92 31 0.085 10 3 1 2 2 Benign 23.7 57052 chr17 41955315 41955315 G A rs118165424 MPP2 Nonsynonymous SNV R496C 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 29.3 57053 chr17 73931743 73931743 C A rs117554064 FBF1 Nonsynonymous SNV D15Y 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 19.7 57054 chr18 13055915 13055915 A C rs11080623 CEP192 Nonsynonymous SNV Q1109P 0.046 0.042 0.024 14 54 16 0.036 7 0 0 0 0 0.727 57055 chr6 36098434 36098434 C A rs151226715 MAPK13 Stop gain Y25X 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 35 57056 chr17 74093934 74093934 C T rs151088510 EXOC7 Nonsynonymous SNV V154M 0.01 0.008 0.014 1 12 3 0.003 4 0 0 0 0 25.6 57057 chr6 36193085 36193085 G A rs142171063 BRPF3 Nonsynonymous SNV E1075K 0.019 0.01 0.02 7 22 4 0.018 6 0 0 0 0 32 57058 chr18 25593694 25593694 C T rs17445840 CDH2 Nonsynonymous SNV A87T 0.054 0.052 0.058 20 63 20 0.051 17 2 0 2 0 13.98 57059 chr2 233251068 233251068 G C rs55781386 ECEL1P2 0 0 0.259 0 0 0 0 76 0 0 9 0 6.582 57060 chr18 211227 211227 C T rs143109234 USP14 Synonymous SNV Y441Y 0.009 0.01 0.003 5 10 4 0.013 1 1 0 0 0 Likely benign 8.801 57061 chr6 36690283 36690283 A G rs566180074 RAB44 Nonsynonymous SNV H791R 0.014 0.005 0.007 2 17 2 0.005 2 0 0 0 0 0.003 57062 chr17 42991449 42991449 C T rs59291670 GFAP Nonsynonymous SNV D157N 0.016 0.016 0.024 1 19 6 0.003 7 0 0 0 0 Benign 29.4 57063 chr18 29038536 29038536 C T rs7240789 DSG3 Synonymous SNV V115V 0.037 0.026 0.027 13 44 10 0.033 8 0 0 0 0 16.19 57064 chr7 30496434 30496434 C A rs764315889 NOD1 Nonsynonymous SNV R35L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 57065 chr18 21747400 21747400 A G rs35693789 OSBPL1A Nonsynonymous SNV S297P 0.008 0.013 0.02 3 9 5 0.008 6 0 0 0 0 15.59 57066 chr6 152631566 152631566 G A rs145899734 SYNE1 Nonsynonymous SNV R5591C 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 57067 chr17 7479892 7479892 C T rs11078698 EIF4A1 Synonymous SNV H132H 0.01 0.008 0.024 10 12 3 0.026 7 0 0 0 0 13.95 57068 chr17 42982107 42982107 C T rs139603380 FAM187A Nonsynonymous SNV R304C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.41 57069 chr17 75401191 75401191 C T rs12601411 SEPTIN9 Synonymous SNV C6C 0.005 0.003 0.003 2 6 1 0.005 1 1 0 0 0 4.058 57070 chr17 75471762 75471762 G A rs312821 SEPTIN9 Synonymous SNV T54T 0.006 0 0.01 4 7 0 0.01 3 1 0 1 0 5.062 57071 chr17 45234303 45234303 G C rs200611688 CDC27 Nonsynonymous SNV A170G 0.026 0.036 0 4 31 14 0.01 0 0 0 0 0 21.7 57072 chr2 234702346 234702346 A G rs190909927 MROH2A Nonsynonymous SNV Q233R 0.014 0.01 0.017 8 17 4 0.021 5 0 0 0 0 18.52 57073 chr17 45447802 45447802 G A rs76299620 EFCAB13 0.022 0.01 0.034 10 26 4 0.026 10 0 0 0 0 24.1 57074 chr6 41001859 41001859 G A rs114639063 UNC5CL Synonymous SNV D149D 0.026 0.039 0.034 15 31 15 0.038 10 1 0 0 0 2.043 57075 chr18 33702024 33702024 C T rs61741419 SLC39A6 Synonymous SNV K175K 0.017 0.021 0.037 2 20 8 0.005 11 1 0 1 0 15.61 57076 chr6 41117594 41117594 A T rs138237630 TREML1 Nonsynonymous SNV D117E 0.007 0.005 0 0 8 2 0 0 0 0 0 0 13.09 57077 chr17 76157093 76157093 G A rs73375792 C17orf99 Nonsynonymous SNV R43H 0.004 0 0 4 5 0 0.01 0 0 0 0 0 23.4 57078 chr17 4448350 4448350 T G rs138647967 MYBBP1A Nonsynonymous SNV M761L 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 24.6 57079 chr17 4457571 4457571 C T rs78992572 MYBBP1A Synonymous SNV L99L 0.041 0.063 0.044 10 48 24 0.026 13 2 1 0 0 16.95 57080 chr6 155504495 155504495 G C rs145603552 TIAM2 Synonymous SNV P975P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.77 57081 chr7 32956941 32956941 C T rs2278817 RP9P 0.089 0.081 0 50 104 31 0.128 0 12 5 0 7 5.063 57082 chr17 45822139 45822139 A G rs12721471 TBX21 Nonsynonymous SNV I339V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.331 57083 chr17 76481820 76481820 G A rs78765826 DNAH17 Nonsynonymous SNV T2432M 0.004 0 0 4 5 0 0.01 0 0 0 0 0 18.38 57084 chr17 46134798 46134798 C T rs2229368 NFE2L1 Synonymous SNV T272T 0.015 0.018 0.017 16 18 7 0.041 5 0 0 0 0 16.84 57085 chr17 45369794 45369794 G T rs761924225 ITGB3 Nonsynonymous SNV G517V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 57086 chr18 3452030 3452030 C T rs111896914 TGIF1 Nonsynonymous SNV S18L 0.032 0.036 0.02 7 37 14 0.018 6 1 0 0 0 Benign 14.52 57087 chr6 42204016 42204016 G A rs34528654 TRERF1 Nonsynonymous SNV T1018M 0.017 0.01 0 7 20 4 0.018 0 0 0 0 0 23.3 57088 chr2 237374254 237374254 A T rs746178269 IQCA1 Nonsynonymous SNV Y274N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 57089 chr7 36466571 36466571 C T rs148635845 ANLN Synonymous SNV F902F 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 Benign 14.38 57090 chr17 76497930 76497930 G A rs61743998 DNAH17 Nonsynonymous SNV T1739M 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 Benign 17.45 57091 chr17 4586245 4586245 G C rs370267840 PELP1 Synonymous SNV T141T 0.02 0.018 0.007 12 23 7 0.031 2 0 0 0 0 12.7 57092 chr6 42631066 42631066 G A UBR2 Nonsynonymous SNV V1203I 0.008 0.003 0 0 9 1 0 0 0 0 0 0 22.9 57093 chr18 42530344 42530344 A G SETBP1 Nonsynonymous SNV I347V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 57094 chr6 159654963 159654963 G T rs151137756 FNDC1 Nonsynonymous SNV R1140L 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 17.22 57095 chr6 42893254 42893254 G A rs146531157 PTCRA Nonsynonymous SNV R120Q 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 Benign 3.238 57096 chr17 76540041 76540041 A G rs61746088 DNAH17 Synonymous SNV N810N 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 7.313 57097 chr17 46053279 46053279 G A rs200963209 CDK5RAP3 Nonsynonymous SNV R8Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 57098 chr18 31324282 31324282 C T rs185893902 ASXL3 Synonymous SNV S1490S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.29 57099 chr17 76562802 76562802 C T rs112807670 DNAH17 Nonsynonymous SNV R488H 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 10.36 57100 chr18 43319274 43319274 G A rs17675299 SLC14A1 Synonymous SNV A138A 0.062 0.065 0.058 23 73 25 0.059 17 1 1 1 0 5.918 57101 chr2 239013472 239013472 G A rs116142311 ESPNL Nonsynonymous SNV V221I 0.006 0.005 0.024 2 7 2 0.005 7 0 0 0 0 21.9 57102 chr6 43305520 43305520 C T rs35650765 ZNF318 Synonymous SNV P2072P 0.037 0.039 0.037 9 43 15 0.023 11 0 1 1 0 8.158 57103 chr7 42951646 42951646 C T rs28372722 C7orf25 Synonymous SNV A7A 0.056 0.06 0.054 17 66 23 0.044 16 2 0 2 0 18.38 57104 chr18 3215156 3215156 C G rs1662316 MYOM1 Synonymous SNV V22V 0.08 0.068 0.051 34 94 26 0.087 15 3 1 0 1 Benign 4.849 57105 chr6 168709147 168709147 G A rs41266321 DACT2 Synonymous SNV S260S 0.066 0.057 0.051 37 77 22 0.095 15 1 1 1 1 3.124 57106 chr17 7750177 7750177 - ACC rs771743551 KDM6B P264_L265insP 0.009 0.016 0.007 1 11 6 0.003 2 2 0 0 0 57107 chr18 3215158 3215158 C G rs1791085 MYOM1 Nonsynonymous SNV V22L 0.08 0.068 0.051 34 94 26 0.087 15 3 1 0 1 Benign 11.48 57108 chr6 43320175 43320175 C A rs372157289 ZNF318 Nonsynonymous SNV A904S 0.008 0.003 0 0 9 1 0 0 0 0 0 0 29.9 57109 chr17 7750744 7750744 C T rs377714300 KDM6B Nonsynonymous SNV R411W 0.007 0.005 0 0 8 2 0 0 0 0 0 0 25.3 57110 chr17 76888041 76888041 T C rs8077028 CEP295NL Nonsynonymous SNV E182G 0.006 0 0.01 4 7 0 0.01 3 0 0 0 0 13.88 57111 chr6 168711107 168711107 G A rs111574499 DACT2 Synonymous SNV D133D 0.05 0.042 0.037 35 59 16 0.09 11 1 0 0 1 5.17 57112 chr17 77708970 77708970 C T rs76811489 ENPP7 Synonymous SNV I176I 0.023 0.021 0.02 14 27 8 0.036 6 1 0 0 0 11.8 57113 chr6 43418328 43418328 G A rs35056042 DLK2 Synonymous SNV L330L 0.037 0.039 0.041 11 44 15 0.028 12 0 1 1 0 6.718 57114 chr18 32834095 32834095 T C rs2289037 ZSCAN30 Synonymous SNV T81T 0.046 0.044 0.024 19 54 17 0.049 7 1 1 0 1 0.237 57115 chr18 32834186 32834186 T G rs2249769 ZSCAN30 Nonsynonymous SNV Q51P 0.062 0.06 0.044 19 73 23 0.049 13 2 1 0 1 2.707 57116 chr6 43418528 43418528 C T rs35192247 DLK2 Nonsynonymous SNV G264R 0.037 0.039 0.041 11 44 15 0.028 12 0 1 1 0 15.13 57117 chr2 239133843 239133843 A G rs35648651 LINC02610 0 0 0.109 0 0 0 0 32 0 0 2 0 0.026 57118 chr18 47363963 47363963 T C rs112417235 MYO5B Nonsynonymous SNV M1688V 0.02 0.026 0.02 8 24 10 0.021 6 0 0 0 1 Benign 8.82 57119 chr6 44195014 44195014 G C rs772949790 SLC29A1 Synonymous SNV G14G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 5.694 57120 chr2 240323905 240323905 - G rs3215239 HDAC4-AS1 0 0 0.466 0 0 0 0 137 0 0 28 0 57121 chr2 240721598 240721598 T G rs12613844 LOC150935 0 0 0.248 0 0 0 0 73 0 0 11 0 4.723 57122 chr18 47566647 47566647 A G rs78626055 MYO5B Nonsynonymous SNV L59P 0.037 0.029 0.01 6 43 11 0.015 3 2 0 0 0 Benign 28.8 57123 chr2 241447037 241447037 C T rs144808565 ANKMY1 Synonymous SNV L509L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.304 57124 chr7 44747514 44747514 C T rs61756583 OGDH Synonymous SNV T992T 0.06 0.063 0.082 22 70 24 0.056 24 2 3 1 1 Benign 15.96 57125 chr7 44747578 44747578 G A rs2070607 OGDH Nonsynonymous SNV V1014I 0.061 0.063 0.082 22 72 24 0.056 24 2 3 1 1 Benign 15.91 57126 chr7 44747589 44747589 C T rs61756584 OGDH Synonymous SNV N1017N 0.06 0.063 0.082 22 70 24 0.056 24 2 3 1 1 Benign 8.792 57127 chr18 42532223 42532223 G C rs140321570 SETBP1 Nonsynonymous SNV S973T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.93 57128 chr7 45125700 45125700 C T rs141784618 NACAD Nonsynonymous SNV D27N 0.023 0.013 0.031 5 27 5 0.013 9 0 0 0 0 24.5 57129 chr6 46761403 46761403 T C rs777418834 MEP1A Nonsynonymous SNV V32A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 57130 chr17 78081515 78081515 G A rs142626724 GAA Synonymous SNV A284A 0.022 0.013 0.027 7 26 5 0.018 8 0 0 1 0 Benign 8.087 57131 chr7 1539137 1539137 C T rs374291920 INTS1 Synonymous SNV A272A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.68 57132 chr7 45701762 45701762 C T rs61729596 ADCY1 Synonymous SNV F518F 0.027 0.021 0.02 12 32 8 0.031 6 0 0 0 1 Benign 12.72 57133 chr7 1785033 1785033 C T rs190923920 ELFN1 Synonymous SNV S267S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.015 57134 chr7 1785075 1785075 G A rs765758519 ELFN1 Synonymous SNV P281P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.003 57135 chr17 4836829 4836829 T C rs181987848 GP1BA Synonymous SNV T310T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.018 57136 chr6 167711559 167711559 G C rs113906647 UNC93A 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 23 57137 chr17 48437445 48437445 C T rs141527159 XYLT2 Synonymous SNV A797A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 10.37 57138 chr18 51880889 51880889 G A rs17292725 STARD6 Stop gain R19X 0.055 0.063 0.058 25 65 24 0.064 17 2 2 1 0 35 57139 chr17 78087131 78087131 G T rs143324027 GAA Nonsynonymous SNV A719S 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 Uncertain significance 0.013 57140 chr7 47408443 47408443 C G rs2293362 TNS3 Nonsynonymous SNV Q600H 0.037 0.031 0.034 16 44 12 0.041 10 2 0 1 0 0.328 57141 chr6 47563608 47563608 A G rs138727736 CD2AP Nonsynonymous SNV T374A 0.007 0.008 0.017 2 8 3 0.005 5 0 0 0 0 Benign 0.167 57142 chr7 2581807 2581807 A C rs150942467 BRAT1 Nonsynonymous SNV L146R 0.009 0.018 0.007 6 11 7 0.015 2 0 0 0 0 Benign/Likely benign 27.7 57143 chr18 43329841 43329841 T C rs28898897 SLC14A1 Synonymous SNV S233S 0.014 0.01 0.007 5 17 4 0.013 2 0 0 0 0 0.454 57144 chr2 242065926 242065926 C T rs151042801 PASK Nonsynonymous SNV G802S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 57145 chr7 47847877 47847877 T C rs140233929 PKD1L1 Nonsynonymous SNV M2599V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 57146 chr17 78172292 78172292 G A rs34367357 CARD14 Nonsynonymous SNV V348I 0.066 0.065 0.085 23 78 25 0.059 25 2 1 2 2 0.002 57147 chr18 44036029 44036029 T G rs61744490 RNF165 Nonsynonymous SNV D111E 0.009 0.016 0.034 7 11 6 0.018 10 0 0 0 0 22.7 57148 chr2 242396308 242396308 G C rs141474478 FARP2 Nonsynonymous SNV G520R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 57149 chr17 78261730 78261730 G A rs17853714 RNF213 Synonymous SNV P126P 0.102 0.091 0.109 48 120 35 0.123 32 6 1 1 3 7.687 57150 chr2 242402016 242402016 G A rs139008133 FARP2 Nonsynonymous SNV V556I 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign 25.6 57151 chr6 47649849 47649849 T G rs184516434 ADGRF2 Nonsynonymous SNV C518W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.8 57152 chr17 78261805 78261805 A G rs7215243 RNF213 Synonymous SNV P151P 0.146 0.143 0.146 62 171 55 0.159 43 14 4 2 5 0.058 57153 chr17 78262161 78262161 T C rs17857135 RNF213 Nonsynonymous SNV M270T 0.101 0.096 0.116 49 118 37 0.126 34 6 0 1 3 0.001 57154 chr7 2742385 2742385 C T rs370075217 AMZ1 Synonymous SNV L112L 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 8.462 57155 chr18 5419723 5419723 C T rs117538203 EPB41L3 Nonsynonymous SNV R516Q 0.003 0.01 0.01 3 4 4 0.008 3 0 0 0 0 Likely benign 32 57156 chr17 78263486 78263486 T C rs17853989 RNF213 Nonsynonymous SNV M321T 0.108 0.109 0.095 49 127 42 0.126 28 8 1 1 3 0.001 57157 chr17 78263514 78263514 G A rs17853713 RNF213 Synonymous SNV K330K 0.108 0.109 0.092 49 127 42 0.126 27 8 1 1 3 7.105 57158 chr7 2752506 2752506 G A rs74388321 AMZ1 Synonymous SNV E497E 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 2.715 57159 chr18 46447850 46447850 C G rs34151545 SMAD7 Synonymous SNV T203T 0.012 0.003 0.02 3 14 1 0.008 6 0 0 0 0 11.06 57160 chr17 48604679 48604679 G C rs61754788 MYCBPAP Nonsynonymous SNV R749T 0.018 0.026 0.024 14 21 10 0.036 7 0 0 0 0 23.4 57161 chr2 242659520 242659520 G A rs150207390 ING5 Nonsynonymous SNV A250T 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 4.568 57162 chr6 170102268 170102268 G A rs536635998 C6orf120 Nonsynonymous SNV A4T 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 7.465 57163 chr2 242690726 242690726 G A rs139321130 D2HGDH Nonsynonymous SNV G221S 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign/Likely benign 8.14 57164 chr18 55103512 55103512 C T rs79019704 ONECUT2 Synonymous SNV S188S 0.063 0.083 0.082 35 74 32 0.09 24 3 0 0 2 11.86 57165 chr18 55104016 55104016 T C rs61735644 ONECUT2 Synonymous SNV F356F 0.063 0.083 0.085 34 74 32 0.087 25 3 0 0 2 0.926 57166 chr7 4116699 4116699 C T rs61735696 SDK1 Nonsynonymous SNV T1027M 0.006 0.016 0.024 10 7 6 0.026 7 0 0 0 1 23.4 57167 chr18 55143913 55143913 A - ONECUT2 G493Afs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 57168 chr18 55217997 55217997 C T FECH Nonsynonymous SNV V374I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.3 57169 chr6 49580247 49580247 C T rs16879498 RHAG Nonsynonymous SNV V270I 0.009 0.013 0.034 10 11 5 0.026 10 0 0 0 0 Benign 30 57170 chr7 4824629 4824629 G A rs200957609 AP5Z1 Nonsynonymous SNV R138Q 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 57171 chr6 49808642 49808642 G A rs138062744 CRISP1 Stop gain R168X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 57172 chr2 25972936 25972936 C T rs192716734 ASXL2 Nonsynonymous SNV A237T 0.023 0.021 0.02 8 27 8 0.021 6 0 0 0 0 Benign 15.31 57173 chr7 883105 883105 C T rs113652875 SUN1 Nonsynonymous SNV P50L 0.049 0.047 0.054 26 58 18 0.067 16 3 1 0 1 Benign 13.56 57174 chr17 79207236 79207236 G A rs56161914 TEPSIN Synonymous SNV R174R 0.033 0.016 0.02 8 39 6 0.021 6 1 0 0 0 5.372 57175 chr18 51818252 51818252 T C rs776678419 POLI Synonymous SNV F295F 0.004 0 0 0 5 0 0 0 0 0 0 0 6.376 57176 chr7 943868 943868 G A rs61730955 ADAP1 Synonymous SNV N86N 0.071 0.073 0.075 34 83 28 0.087 22 5 1 0 2 5.71 57177 chr7 5529513 5529513 T C rs149457829 FBXL18 Synonymous SNV Q777Q 0.04 0.036 0.02 18 47 14 0.046 6 1 0 1 0 7.795 57178 chr2 26679362 26679362 G A rs35313480 DRC1 Nonsynonymous SNV V734M 0.087 0.091 0.112 39 102 35 0.1 33 7 4 0 3 Benign 21.8 57179 chr6 52303361 52303361 G A rs3804505 EFHC1 Nonsynonymous SNV R182H 0.052 0.047 0.034 19 61 18 0.049 10 2 1 0 0 Benign 15.63 57180 chr2 26683777 26683777 G A rs45442103 OTOF Synonymous SNV R1195R 0.087 0.081 0.112 35 102 31 0.09 33 9 3 0 3 Benign/Likely benign 14.76 57181 chr18 5423453 5423453 C T rs200289520 EPB41L3 Synonymous SNV A421A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.99 57182 chr17 7984203 7984203 C T rs149039053 ALOX12B Nonsynonymous SNV E176K 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Uncertain significance 19.18 57183 chr17 5358547 5358547 G A DHX33 Synonymous SNV S187S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.14 57184 chr17 7999967 7999967 A G rs138511327 ALOXE3 Nonsynonymous SNV I704T 0.011 0.021 0.003 1 13 8 0.003 1 0 0 0 0 Likely benign 24.3 57185 chr2 27375574 27375574 C T rs764247804 TCF23 Nonsynonymous SNV R162C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 57186 chr17 79225014 79225074 TTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTG - SLC38A10 H762Tfs*10 0.053 0.063 0.054 18 62 24 0.046 16 2 0 0 0 57187 chr2 27423966 27423966 C T rs578154608 SLC5A6 Nonsynonymous SNV R555Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 57188 chr17 79225092 79225092 C G rs66961966 SLC38A10 Nonsynonymous SNV A756P 0.059 0.063 0.058 19 69 24 0.049 17 2 0 0 0 1.163 57189 chr18 59170238 59170238 C T rs370206160 CDH20 Synonymous SNV Y238Y 0 0.005 0 0 0 2 0 0 0 0 0 0 13.24 57190 chr17 80012449 80012449 G A rs11077966 GPS1 Synonymous SNV T124T 0.099 0.073 0.099 40 116 28 0.103 29 3 2 4 1 12.38 57191 chr17 80019207 80019207 G C rs11542331 DUS1L Synonymous SNV A240A 0.097 0.076 0.102 37 114 29 0.095 30 4 3 4 0 3.193 57192 chr7 6639520 6639520 C G rs767840684 C7orf26 Nonsynonymous SNV P195R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 57193 chr7 4841553 4841553 G A rs149880583 RADIL Nonsynonymous SNV P858L 0.014 0.008 0 4 16 3 0.01 0 0 0 0 0 0.002 57194 chr17 7950394 7950394 G A rs9895916 ALOX15B Nonsynonymous SNV R457H 0.045 0.031 0.034 17 53 12 0.044 10 4 0 0 1 22.3 57195 chr7 6662111 6662111 A T ZNF853 Nonsynonymous SNV S482C 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 57196 chr17 57775172 57775172 T C rs142925288 PTRH2 Synonymous SNV A56A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 4.841 57197 chr2 27693802 27693802 G C rs61743977 IFT172 Nonsynonymous SNV T562S 0.014 0.005 0.017 7 16 2 0.018 5 1 0 0 0 Conflicting interpretations of pathogenicity 16.48 57198 chr17 58525018 58525018 C T rs34146848 APPBP2 Nonsynonymous SNV S490N 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 12.39 57199 chr6 55739660 55739660 G A rs9475437 BMP5 Nonsynonymous SNV H2Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.361 57200 chr7 56088780 56088780 G A rs75497420 PSPH Synonymous SNV D42D 0.084 0.06 0.007 23 99 23 0.059 2 0 0 0 0 Benign 1.975 57201 chr17 56233428 56233428 T C rs202247369 OR4D1 Nonsynonymous SNV L305P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.66 57202 chr2 29073949 29073949 T G rs749379957 TRMT61B Nonsynonymous SNV E434A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 57203 chr7 5270480 5270480 C T rs35062616 WIPI2 Synonymous SNV L353L 0.015 0.003 0.02 6 18 1 0.015 6 0 0 0 0 Benign 11.69 57204 chr17 79682051 79682051 C T rs3204270 SLC25A10 Synonymous SNV T54T 0.11 0.102 0.119 39 129 39 0.1 35 9 0 5 1 12.74 57205 chr7 5540482 5540482 G C FBXL18 Nonsynonymous SNV S473C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.9 57206 chr17 80398180 80398180 - GGCAGGCAC HEXD A250delinsGQAP 0.002 0 0 0 2 0 0 0 0 0 0 0 57207 chr17 79952713 79952713 C A rs752745576 ASPSCR1 Nonsynonymous SNV P54T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.36 57208 chr6 64401825 64401825 A G PHF3 Synonymous SNV G708G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.818 57209 chr6 64401877 64401877 G C rs752366381 PHF3 Nonsynonymous SNV D726H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 57210 chr18 5890584 5890584 C T rs369822552 TMEM200C Synonymous SNV A493A 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 16.19 57211 chr17 61559950 61559950 C T rs138521921 ACE Synonymous SNV P414P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.41 57212 chr7 64451709 64451709 C T rs71534243 ERV3-1 Nonsynonymous SNV G566R 0.037 0.021 0.024 14 44 8 0.036 7 0 0 1 0 23.4 57213 chr17 80545076 80545076 A G rs35870621 FOXK2 Nonsynonymous SNV I572V 0.037 0.034 0.014 27 44 13 0.069 4 3 1 0 1 1.035 57214 chr7 64452678 64452678 T - ERV3-1 T243Lfs*41 0.003 0.003 0 0 3 1 0 0 0 0 0 0 57215 chr18 59899576 59899576 T C rs3764493 RELCH Synonymous SNV I512I 0.024 0.021 0.007 11 28 8 0.028 2 0 0 0 0 4.025 57216 chr7 6193930 6193930 C T USP42 Synonymous SNV D915D 0.01 0.003 0 5 12 1 0.013 0 0 0 0 0 11.76 57217 chr7 6470174 6470174 T C rs746686098 DAGLB Nonsynonymous SNV Y289C 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 26.2 57218 chr17 80274113 80274113 G A rs138637115 CD7 Synonymous SNV L190L 0.004 0 0.003 4 5 0 0.01 1 1 0 0 0 10.22 57219 chr7 73097720 73097720 G C rs28494095 DNAJC30 Nonsynonymous SNV L12V 0.109 0.099 0.112 39 128 38 0.1 33 6 1 2 0 0.003 57220 chr7 73122977 73122977 G A rs2229854 STX1A Synonymous SNV N50N 0.103 0.096 0.112 55 121 37 0.141 33 6 1 2 1 11.25 57221 chr17 8135444 8135444 C G rs62620189 CTC1 Nonsynonymous SNV G721A 0.032 0.026 0.027 12 38 10 0.031 8 1 0 0 0 Benign 0.002 57222 chr17 62504736 62504736 C T CEP95 Nonsynonymous SNV L16F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 57223 chr17 8138569 8138569 C G rs62624978 CTC1 Nonsynonymous SNV G414A 0.032 0.026 0.027 12 37 10 0.031 8 1 0 0 0 Conflicting interpretations of pathogenicity 22.5 57224 chr17 60484531 60484531 C A rs147273266 EFCAB3 Nonsynonymous SNV F275L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 57225 chr7 20795202 20795202 T A rs765326483 ABCB5 Nonsynonymous SNV N798K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.698 57226 chr17 80888475 80888475 C T rs112074039 TBCD Synonymous SNV S1023S 0.005 0.008 0.003 5 6 3 0.013 1 0 0 0 0 Benign 15.57 57227 chr6 74516631 74516631 G A rs35630075 CD109 Nonsynonymous SNV V932M 0.016 0.005 0.01 1 19 2 0.003 3 0 0 0 0 28.7 57228 chr17 8166498 8166498 G A rs34778863 PFAS Synonymous SNV K494K 0.028 0.044 0.061 15 33 17 0.038 18 0 1 1 0 14.12 57229 chr17 934930 934930 G T rs146613429 ABR Nonsynonymous SNV P18T 0.027 0.042 0.048 16 32 16 0.041 14 5 4 2 3 13.28 57230 chr7 22985355 22985355 C A rs760232343 FAM126A Synonymous SNV G473G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 57231 chr2 38301503 38301503 G A CYP1B1 Synonymous SNV L343L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 57232 chr6 75893004 75893004 C T COL12A1 Synonymous SNV G551G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.97 57233 chr7 23794029 23794029 G A rs4722266 STK31 Nonsynonymous SNV G387E 0.095 0.073 0.126 26 111 28 0.067 37 5 2 2 0 4.452 57234 chr17 6515392 6515392 T G rs79173884 KIAA0753 Synonymous SNV I165I 0.037 0.029 0.031 13 43 11 0.033 9 2 0 1 0 3.668 57235 chr17 62476429 62476429 G A rs61733782 POLG2 Synonymous SNV S423S 0.071 0.065 0.048 22 83 25 0.056 14 5 3 0 1 Benign 7.929 57236 chr7 24892221 24892221 T C rs11768296 OSBPL3 Nonsynonymous SNV M323V 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 10.46 57237 chr6 76640803 76640803 G A rs10943299 IMPG1 Nonsynonymous SNV R626W 0.169 0.161 0.201 56 198 62 0.144 59 17 7 4 1 0.033 57238 chr17 6531552 6531552 A C rs16955985 KIAA0753 Nonsynonymous SNV H201Q 0.037 0.029 0.031 13 43 11 0.033 9 2 0 1 0 0.002 57239 chr18 691252 691252 T C rs143796568 ENOSF1 Nonsynonymous SNV I68V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.37 57240 chr7 77789403 77789403 A G rs1009524 MAGI2 Synonymous SNV N914N 0.092 0.07 0.105 39 108 27 0.1 31 4 1 0 3 Benign 7.147 57241 chr17 63554116 63554116 G A rs201531372 AXIN2 Nonsynonymous SNV A208V 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 57242 chr18 7231467 7231467 A G rs200750520 LRRC30 Nonsynonymous SNV R111G 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 0.005 57243 chr2 43452334 43452334 G A rs8098 ZFP36L2 Synonymous SNV I203I 0.066 0.047 0.058 29 77 18 0.074 17 5 1 1 0 0.735 57244 chr7 21603886 21603886 A G rs4392792 DNAH11 Synonymous SNV P355P 0.037 0.063 0.048 19 44 24 0.049 14 0 2 1 0 Benign/Likely benign 0.307 57245 chr18 72775754 72775754 A G rs202203566 ZNF407 Nonsynonymous SNV Q2026R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Uncertain significance 4.392 57246 chr2 43452618 43452618 C T rs11675632 ZFP36L2 Nonsynonymous SNV G109S 0.061 0.047 0.054 29 72 18 0.074 16 5 1 1 0 18.06 57247 chr2 43452793 43452793 C G rs77160973 ZFP36L2 Synonymous SNV P50P 0.05 0.031 0.044 23 59 12 0.059 13 2 0 0 0 6.506 57248 chr2 43455064 43455065 CA - rs578036129 LINC01126 0 0 0.173 0 0 0 0 51 0 0 7 0 57249 chr7 27224149 27224149 C A rs757627620 HOXA11 Synonymous SNV A205A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.01 57250 chr7 27224261 27224261 C A HOXA11 Nonsynonymous SNV G168V 0 0 0 3 0 0 0.008 0 0 0 0 0 16.22 57251 chr2 44513202 44513202 T C rs141587158 SLC3A1 Nonsynonymous SNV F266S 0.006 0.008 0.01 0 7 3 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 57252 chr7 29440195 29440195 C T rs34045356 CHN2 Synonymous SNV H74H 0.082 0.057 0.065 40 96 22 0.103 19 4 1 1 2 11.18 57253 chr6 87725841 87725841 C T rs146302872 HTR1E Synonymous SNV I263I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.968 57254 chr2 47045321 47045321 A G rs17773492 LINC01118 0 0 0.337 0 0 0 0 99 0 0 17 0 12.69 57255 chr2 47049409 47049409 C T rs2278715 LINC01118 0 0 0.469 0 0 0 0 138 0 0 33 0 0.842 57256 chr2 47049453 47049453 A G rs1053952 LINC01118 0 0 0.636 0 0 0 0 187 0 0 61 0 4.911 57257 chr18 10787126 10787126 A G rs76488076 PIEZO2 Synonymous SNV I742I 0.047 0.044 0.058 17 55 17 0.044 17 2 0 1 1 Benign 8.202 57258 chr18 72997846 72997846 A C rs745870098 TSHZ1 Nonsynonymous SNV T162P 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 0.043 57259 chr17 65955758 65955758 - CCTCCAGCCCCTCCAGCC rs139709271 BPTF P2684_P2685insAPPAPP 0.037 0.029 0.014 8 44 11 0.021 4 1 0 0 0 57260 chr18 10807167 10807167 C T rs61750910 PIEZO2 Synonymous SNV L341L 0.047 0.044 0.068 17 55 17 0.044 20 2 0 1 1 Benign 11.99 57261 chr18 72997849 72997850 TG - TSHZ1 C163Pfs*56 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 57262 chr6 88123549 88123549 G A rs35438647 CFAP206 Nonsynonymous SNV D72N 0.023 0.031 0.02 13 27 12 0.033 6 0 0 0 0 24.2 57263 chr7 31018852 31018852 T C rs2228078 GHRHR Nonsynonymous SNV M422T 0.009 0.013 0.014 6 11 5 0.015 4 0 0 0 0 Benign/Likely benign 7.404 57264 chr18 76753491 76753491 C T rs7233194 SALL3 Synonymous SNV G500G 0.072 0.049 0.044 16 84 19 0.041 13 2 0 0 0 8.997 57265 chr18 12836807 12836807 T C rs74163638 PTPN2 Nonsynonymous SNV S53G 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 21.1 57266 chr18 77895474 77895474 A G rs768041415 ADNP2 Synonymous SNV K726K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 57267 chr7 25266570 25266572 TAA - rs3216928 NPVF I71del 0.089 0.078 0.119 41 105 30 0.105 35 4 1 2 2 57268 chr7 27135314 27135316 CGA - rs368428758 HOXA1 R73del 0.056 0.06 0.044 18 66 23 0.046 13 5 1 0 0 57269 chr7 27135319 27135319 G A rs2074398 HOXA1 Synonymous SNV H71H 0.056 0.06 0.044 18 66 23 0.046 13 5 1 0 0 Benign/Likely benign 0.298 57270 chr18 13826007 13826007 G T rs2236699 MC5R Synonymous SNV A81A 0.04 0.039 0.017 14 47 15 0.036 5 2 0 0 0 6.426 57271 chr6 90573283 90573283 G A CASP8AP2 Nonsynonymous SNV V619I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.47 57272 chr6 96034330 96034330 G A rs117960842 MANEA Synonymous SNV R5R 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 7.656 57273 chr18 9255310 9255310 C T ANKRD12 Nonsynonymous SNV A659V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.852 57274 chr7 34867182 34867182 C T rs17170011 NPSR1 Synonymous SNV F150F 0.082 0.094 0.061 34 96 36 0.087 18 3 1 1 1 12.88 57275 chr7 29135801 29135801 C T CPVL Stop gain W47X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 57276 chr18 9886988 9886988 C T rs34812912 TXNDC2 Nonsynonymous SNV P171L 0.118 0.109 0.136 45 138 42 0.115 40 12 2 2 0 8.472 57277 chr18 9887149 9887149 G C rs11662946 TXNDC2 Nonsynonymous SNV A225P 0.119 0.112 0.136 47 140 43 0.121 40 13 3 2 0 0.001 57278 chr7 30492598 30492598 C A rs5743340 NOD1 Synonymous SNV L145L 0.021 0.008 0.01 7 25 3 0.018 3 0 0 0 0 12.37 57279 chr2 6114738 6114738 G A rs11690052 SILC1 0 0 0.265 0 0 0 0 78 0 0 11 0 5.86 57280 chr6 99283172 99283172 - CAG rs564719242 POU3F2 Q149_R150insQ 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 57281 chr18 9888027 9888027 C T rs11664080 TXNDC2 Synonymous SNV C517C 0.118 0.109 0.136 45 138 42 0.115 40 12 2 2 0 8.151 57282 chr7 92062516 92062516 T C rs61125233 TMBIM7P 0.028 0.042 0 19 33 16 0.049 0 0 0 0 0 0.841 57283 chr7 92098478 92098478 A G rs75275313 ERVW-1 Synonymous SNV Y406Y 0.032 0.044 0.027 20 38 17 0.051 8 0 0 1 0 0.024 57284 chr18 28672148 28672148 C T rs138643506 DSC2 Synonymous SNV E90E 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.23 57285 chr2 61705976 61705976 A C XPO1 Nonsynonymous SNV I1065M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.196 57286 chr7 92763720 92763720 G A rs151304501 SAMD9L Nonsynonymous SNV A522V 0.032 0.029 0.031 18 37 11 0.046 9 1 0 0 0 25.4 57287 chr7 31746837 31746837 C T rs2072409 PPP1R17 Synonymous SNV D85D 0.073 0.052 0.082 31 86 20 0.079 24 3 0 0 1 15.35 57288 chr2 63282952 63282952 C G OTX1 Nonsynonymous SNV A189G 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 57289 chr7 94175010 94175010 A G rs745758637 CASD1 Nonsynonymous SNV N270D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 57290 chr19 1008645 1008645 C A rs78914045 GRIN3B Nonsynonymous SNV A832E 0.02 0.021 0.003 10 24 8 0.026 1 1 0 0 1 24.5 57291 chr19 10247822 10247822 A C rs142647321 DNMT1 Nonsynonymous SNV H1460Q 0.005 0.013 0.01 2 6 5 0.005 3 0 0 0 0 Benign/Likely benign 5.026 57292 chr19 10092774 10092774 A G COL5A3 Synonymous SNV G809G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 57293 chr6 106555025 106555025 G A rs1010273 PRDM1 Synonymous SNV P580P 0.129 0.125 0.167 53 152 48 0.136 49 9 2 7 5 0.08 57294 chr18 29125854 29125854 A G rs1042769 DSG2 Synonymous SNV T835T 0.121 0.117 0.112 47 142 45 0.121 33 11 5 2 2 Benign 14.95 57295 chr19 10398681 10398681 A G rs539994937 ICAM4 Nonsynonymous SNV S214G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.6 57296 chr7 43830888 43830888 T C rs1802846 BLVRA Synonymous SNV L59L 0.105 0.091 0.102 31 123 35 0.079 30 3 2 5 1 5.134 57297 chr7 43843423 43843423 G A rs1131372 BLVRA Synonymous SNV V203V 0.103 0.091 0.102 30 121 35 0.077 30 3 2 5 1 12.4 57298 chr18 28612233 28612233 G T rs114988341 DSC3 Nonsynonymous SNV R27S 0.012 0.005 0 6 14 2 0.015 0 0 0 0 0 22.4 57299 chr17 71357830 71357830 G A rs748684023 SDK2 Synonymous SNV P1820P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.04 57300 chr17 71384169 71384169 C T rs139527427 SDK2 Synonymous SNV P1400P 0.008 0.016 0.017 5 9 6 0.013 5 0 1 0 0 17.79 57301 chr7 44097842 44097842 C T DBNL Nonsynonymous SNV R120C 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 24.3 57302 chr6 108687502 108687502 C G rs370599565 AFG1L Synonymous SNV V238V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.32 57303 chr6 108831463 108831463 A G rs138360237 AFG1L Nonsynonymous SNV I371V 0.012 0.005 0.01 5 14 2 0.013 3 0 0 0 0 4.672 57304 chr19 10370444 10370444 A C rs2304236 MRPL4 Synonymous SNV L297L 0.024 0.034 0.041 5 28 13 0.013 12 0 0 0 1 0.819 57305 chr2 71175371 71175374 TTTT - rs397984964 ATP6V1B1-AS1 0 0 0.367 0 0 0 0 108 0 0 39 0 57306 chr2 71175716 71175716 A G rs12620379 ATP6V1B1-AS1 0 0 0.218 0 0 0 0 64 0 0 9 0 3.773 57307 chr7 38816370 38816370 T C VPS41 Nonsynonymous SNV Q239R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 18.83 57308 chr17 72368371 72368371 C T rs199810778 GPR142 Nonsynonymous SNV R253W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 22.7 57309 chr19 10394792 10394792 G A rs1799969 ICAM1 Nonsynonymous SNV G241R 0.044 0.031 0.037 13 52 12 0.033 11 2 0 0 0 23.8 57310 chr7 41739682 41739682 C T rs753760792 INHBA Synonymous SNV E97E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.25 57311 chr2 71429687 71429687 C G rs13001756 PAIP2B Synonymous SNV P11P 0.063 0.065 0.092 24 74 25 0.062 27 4 1 0 1 12.47 57312 chr6 116442559 116442559 C T rs112875740 COL10A1 Synonymous SNV P240P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.562 57313 chr17 72578386 72578386 G T rs77765423 CD300LD Synonymous SNV A148A 0.016 0.01 0.024 6 19 4 0.015 7 0 0 0 0 1.488 57314 chr7 47408782 47408782 C T rs143062302 TNS3 Synonymous SNV L487L 0.014 0.016 0.024 7 16 6 0.018 7 0 0 0 0 Benign 10.53 57315 chr17 72588806 72588806 C A rs545652 C17orf77 Stop gain C207X 0.145 0.128 0.146 61 170 49 0.156 43 9 2 3 3 35 57316 chr19 1114407 1114407 G A rs749757173 SBNO2 Nonsynonymous SNV R577C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 57317 chr19 10464843 10464843 G A rs35018800 TYK2 Nonsynonymous SNV A928V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign/Likely benign 35 57318 chr7 47840310 47840310 C G rs146576726 PKD1L1 Nonsynonymous SNV Q2710H 0.026 0.031 0.037 17 30 12 0.044 11 1 0 0 1 0.209 57319 chr7 47882608 47882608 C T rs548476706 PKD1L1 Synonymous SNV A1799A 0.004 0.003 0.003 1 5 1 0.003 1 1 0 0 0 11.59 57320 chr18 34376861 34376861 T G rs151245757 TPGS2 Synonymous SNV A227A 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 5.621 57321 chr17 73724501 73724501 T C rs148048907 ITGB4 Synonymous SNV F171F 0.026 0.031 0.037 3 30 12 0.008 11 0 0 0 0 Benign 8.9 57322 chr17 73732669 73732669 C T rs140078827 ITGB4 Synonymous SNV D628D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 57323 chr19 11436221 11436221 A G rs12981706 RAB3D Synonymous SNV N171N 0.025 0.023 0.024 13 29 9 0.033 7 0 1 0 0 1.723 57324 chr19 10624735 10624735 A T rs35483143 S1PR5 Nonsynonymous SNV L318Q 0.026 0.018 0.034 10 30 7 0.026 10 0 0 1 0 24 57325 chr19 11558340 11558340 - GAG rs754387112 PRKCSH E325_A326insE 0.014 0.023 0 9 16 9 0.023 0 0 1 0 0 57326 chr19 11569316 11569316 G A rs2242112 ELAVL3 Synonymous SNV Y148Y 0.031 0.042 0.027 14 36 16 0.036 8 0 1 0 0 7.684 57327 chr17 72943252 72943252 C T rs376609781 OTOP3 Synonymous SNV I416I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.53 57328 chr19 12059467 12059467 C G rs73509026 ZNF700 Nonsynonymous SNV R213G 0.036 0.026 0.037 10 42 10 0.026 11 1 0 0 0 20.4 57329 chr19 12089903 12089903 G A rs112017572 ZNF763 Synonymous SNV A266A 0.036 0.029 0.037 11 42 11 0.028 11 1 0 0 0 8.076 57330 chr19 12146370 12146370 T C rs3745672 ZNF433-AS1 0.035 0.029 0.041 10 41 11 0.026 12 1 0 0 0 3.355 57331 chr19 12186732 12186732 A G rs76842919 ZNF844 Nonsynonymous SNV N266S 0.064 0.052 0.075 22 75 20 0.056 22 4 0 0 0 0.001 57332 chr2 79385857 79385857 G T rs141740162 REG3A Nonsynonymous SNV R39S 0.006 0.003 0.058 0 7 1 0 17 0 0 0 0 0.059 57333 chr7 48314896 48314896 C T rs200132906 ABCA13 Nonsynonymous SNV S1878F 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 0.928 57334 chr17 7330274 7330274 G A SPEM2 Nonsynonymous SNV E322K 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 23.8 57335 chr17 7406544 7406544 G T rs778868376 POLR2A Nonsynonymous SNV R954L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.6 57336 chr2 85059255 85059255 T C rs186398327 TRABD2A Nonsynonymous SNV N287D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.32 57337 chr7 45122911 45122911 T C rs765177591 NACAD Synonymous SNV P956P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.03 57338 chr19 10961024 10961024 C G rs73009507 C19orf38 Nonsynonymous SNV P41A 0.043 0.047 0.027 12 51 18 0.031 8 2 0 0 0 24.4 57339 chr17 73499196 73499196 G A rs112206208 CASKIN2 Synonymous SNV N571N 0.02 0.031 0.034 11 23 12 0.028 10 1 1 0 0 0.726 57340 chr19 12791871 12791873 CTC - rs767088890 DHPS E19del 0 0.003 0 0 0 1 0 0 0 0 0 0 57341 chr7 45125466 45125466 G C rs11760885 NACAD Nonsynonymous SNV L105V 0.055 0.052 0.044 15 65 20 0.038 13 5 2 0 1 0.001 57342 chr19 13211821 13211821 C T rs151073349 LYL1 Synonymous SNV R55R 0.032 0.034 0.054 10 37 13 0.026 16 1 0 2 0 10.4 57343 chr17 7366348 7366348 A C rs78260319 ZBTB4 Nonsynonymous SNV D651E 0.026 0.029 0.014 9 31 11 0.023 4 2 0 0 0 0.001 57344 chr2 86271391 86271391 C T rs199606560 POLR1A Synonymous SNV Q1002Q 0.008 0.003 0.02 4 9 1 0.01 6 0 0 0 0 Benign 13.95 57345 chr17 73725481 73725481 C T rs61751843 ITGB4 Synonymous SNV G234G 0.039 0.026 0.041 24 46 10 0.062 12 0 0 1 0 Likely benign 18.7 57346 chr6 129635800 129635800 G A rs2306942 LAMA2 Nonsynonymous SNV V1138M 0.049 0.044 0.044 14 57 17 0.036 13 1 0 0 0 Benign 20.9 57347 chr2 86344237 86344237 A G rs3764948 PTCD3 Synonymous SNV S123S 0.017 0.018 0.031 6 20 7 0.015 9 0 1 0 0 6.721 57348 chr18 43573649 43573649 A G rs116067668 PSTPIP2 Synonymous SNV C221C 0.025 0.018 0.027 13 29 7 0.033 8 1 0 0 1 4.36 57349 chr18 44102126 44102126 G A rs201060702 LOXHD1 Nonsynonymous SNV R468C 0.006 0 0 5 7 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 57350 chr18 44109144 44109144 C T rs187587197 LOXHD1 Nonsynonymous SNV G302E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 57351 chr19 13930270 13930270 C T rs80004758 ZSWIM4 Nonsynonymous SNV P558L 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 23.7 57352 chr7 100550340 100550340 T A rs748329732 MUC3A Synonymous SNV G307G 0.038 0.034 0 8 45 13 0.021 0 0 0 0 0 2.536 57353 chr7 100550355 100550355 C A rs77135444 MUC3A Synonymous SNV T312T 0.036 0.047 0 15 42 18 0.038 0 0 0 0 0 11.65 57354 chr19 12060627 12060627 A G rs78201704 ZNF700 Synonymous SNV Q599Q 0.009 0.026 0.003 2 11 10 0.005 1 0 1 0 0 0.929 57355 chr6 131914247 131914247 G A rs764339208 MED23 Synonymous SNV N1099N 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 9.943 57356 chr19 14232379 14232379 G A rs147599228 ASF1B Nonsynonymous SNV R123C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 57357 chr17 76198587 76198587 A G rs72897838 AFMID Synonymous SNV T54T 0.088 0.07 0.075 24 103 27 0.062 22 2 0 1 0 1.593 57358 chr17 76200965 76200965 C T rs72897843 AFMID Nonsynonymous SNV R151W 0.088 0.073 0.071 24 103 28 0.062 21 2 0 1 0 29.4 57359 chr19 14267780 14267780 T C rs61741129 ADGRL1 Nonsynonymous SNV I975V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 6.437 57360 chr19 12187316 12187317 CA - rs201088213 ZNF844 T462Lfs*181 0.008 0.026 0.003 2 9 10 0.005 1 0 1 0 0 57361 chr19 14268799 14268799 G A rs2242222 ADGRL1 Synonymous SNV Y810Y 0.072 0.086 0.116 22 85 33 0.056 34 1 2 3 2 2.448 57362 chr19 14273641 14273641 A G rs3745462 ADGRL1 Synonymous SNV R324R 0.089 0.104 0.133 27 104 40 0.069 39 5 3 5 2 0.007 57363 chr6 133014413 133014413 C T rs45530734 VNN1 Synonymous SNV K192K 0.023 0.031 0.01 8 27 12 0.021 3 2 0 0 0 10.07 57364 chr7 48315041 48315041 G A ABCA13 Synonymous SNV P1926P 0.009 0.003 0 2 10 1 0.005 0 1 0 0 0 6.275 57365 chr19 1440090 1440090 C T rs778995103 RPS15 Synonymous SNV H54H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.745 57366 chr2 9616161 9616161 C G rs61732203 IAH1 Nonsynonymous SNV L43V 0.016 0.008 0.014 8 19 3 0.021 4 0 0 0 0 24.7 57367 chr7 70255245 70255245 C T rs144860288 AUTS2 Nonsynonymous SNV H991Y 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23.4 57368 chr2 96798356 96798356 A G rs139152188 ASTL Nonsynonymous SNV V187A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 16.59 57369 chr19 1235884 1235884 G A rs554502107 CBARP Synonymous SNV L47L 0.007 0 0 7 8 0 0.018 0 0 0 0 1 9.411 57370 chr19 14749132 14749132 G A rs201350463 ADGRE3 Synonymous SNV A297A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.93 57371 chr18 54423841 54423841 T A WDR7 Nonsynonymous SNV S673T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.55 57372 chr7 72848499 72848499 G C rs61749861 FZD9 Synonymous SNV L54L 0.041 0.042 0.031 22 48 16 0.056 9 2 0 0 0 4.113 57373 chr7 73010754 73010754 C T rs61738649 MLXIPL Synonymous SNV L626L 0.041 0.047 0.027 22 48 18 0.056 8 2 0 0 0 2.706 57374 chr7 73097082 73097082 A G rs79849491 DNAJC30 Synonymous SNV F224F 0.032 0.036 0.017 19 37 14 0.049 5 0 0 0 0 0.66 57375 chr19 12692328 12692328 G A rs59612032 ZNF490 Synonymous SNV H187H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.154 57376 chr7 73097713 73097713 G A rs61751896 DNAJC30 Nonsynonymous SNV P14L 0.032 0.036 0.017 19 37 14 0.049 5 0 0 0 0 7.218 57377 chr19 12759091 12759091 G C rs10410289 MAN2B1 Synonymous SNV A854A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.552 57378 chr2 97270008 97270008 A C rs116798525 KANSL3 Nonsynonymous SNV S508A 0.012 0.01 0.051 6 14 4 0.015 15 0 0 0 0 16.21 57379 chr19 12790506 12790506 C G rs10425108 DHPS Nonsynonymous SNV E132D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.414 57380 chr19 12792377 12792377 G A rs11541391 DHPS Synonymous SNV A68A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.51 57381 chr19 14877857 14877857 G A rs10418770 ADGRE2 Synonymous SNV L140L 0.261 0.234 0 71 307 90 0.182 0 147 43 0 29 5.079 57382 chr19 12812169 12812169 A G rs16978628 TNPO2 Synonymous SNV Y895Y 0.015 0.023 0.037 5 18 9 0.013 11 0 0 1 0 0.362 57383 chr19 14884751 14884751 G A rs78992533 ADGRE2 Synonymous SNV D66D 0.034 0.031 0.051 17 40 12 0.044 15 1 0 1 0 0.141 57384 chr19 12812262 12812262 G A rs185580176 TNPO2 Synonymous SNV L864L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 8.952 57385 chr6 138751629 138751629 G C rs61747081 NHSL1 Nonsynonymous SNV P1289A 0.02 0.023 0.017 10 23 9 0.026 5 0 0 0 0 19.51 57386 chr19 14884841 14884841 G A rs41360944 ADGRE2 Synonymous SNV D36D 0.033 0.031 0.051 17 39 12 0.044 15 1 0 1 0 0.032 57387 chr7 73279413 73279413 C T rs118088869 TMEM270 Nonsynonymous SNV R55W 0.058 0.044 0.027 16 68 17 0.041 8 2 0 0 0 15.49 57388 chr19 14910251 14910251 C T rs77999564 OR7C1 Nonsynonymous SNV R233K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 13.95 57389 chr19 14910444 14910446 AGA - rs138624161 OR7C1 F168del 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 57390 chr19 14910474 14910474 C T rs74700010 OR7C1 Nonsynonymous SNV E159K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.84 57391 chr7 73929826 73929826 C T rs111256098 GTF2IRD1 Synonymous SNV G139G 0.031 0.042 0.031 11 36 16 0.028 9 1 2 0 0 12.93 57392 chr17 74300497 74300497 G A rs73996306 QRICH2 Nonsynonymous SNV A69V 0.025 0.023 0.01 8 29 9 0.021 3 0 1 0 0 0.063 57393 chr3 10044457 10044457 C T rs55962400 EMC3-AS1 0 0 0.211 0 0 0 0 62 0 0 6 0 5.48 57394 chr3 10044626 10044626 T C rs13088350 EMC3-AS1 0 0 0.214 0 0 0 0 63 0 0 6 0 0.511 57395 chr3 10045030 10045030 C A rs13066757 EMC3-AS1 0 0 0.214 0 0 0 0 63 0 0 6 0 5.516 57396 chr19 13919761 13919761 A G rs149065965 ZSWIM4 Nonsynonymous SNV Y275C 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 23.2 57397 chr19 13919899 13919899 C A rs142098147 ZSWIM4 Synonymous SNV R293R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 17.81 57398 chr6 144875865 144875865 G A rs757500422 UTRN Nonsynonymous SNV V2324I 0.009 0.016 0 0 11 6 0 0 0 0 0 0 25.7 57399 chr19 14499614 14499614 G C rs150665764 ADGRE5 Synonymous SNV P58P 0.015 0.018 0.014 10 18 7 0.026 4 0 0 0 0 5.601 57400 chr19 14499616 14499616 C T rs139113505 ADGRE5 Nonsynonymous SNV T59M 0.015 0.018 0.014 10 18 7 0.026 4 0 0 0 0 1.027 57401 chr3 101431468 101431468 T C rs2317941 PDCL3P4 0 0 0.024 0 0 0 0 7 0 0 0 0 5.001 57402 chr3 101431521 101431521 T C rs2317942 PDCL3P4 0 0 0.024 0 0 0 0 7 0 0 0 0 2.12 57403 chr3 101431528 101431528 T C rs2317943 PDCL3P4 0 0 0.024 0 0 0 0 7 0 0 0 0 1.618 57404 chr3 101431537 101431537 G A rs4060652 PDCL3P4 0 0 0.024 0 0 0 0 7 0 0 0 0 0.237 57405 chr3 101431543 101431543 A G rs4060653 PDCL3P4 0 0 0.024 0 0 0 0 7 0 0 0 0 0.351 57406 chr3 101431546 101431546 A G rs3968285 PDCL3P4 0 0 0.024 0 0 0 0 7 0 0 0 0 2.47 57407 chr17 7754810 7754810 C G rs913824018 KDM6B Nonsynonymous SNV P1320R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.5 57408 chr3 10183789 10183789 C G rs781063331 VHL Synonymous SNV P86P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.69 57409 chr7 77552058 77552058 G A rs182350515 PHTF2 Nonsynonymous SNV R323K 0.007 0.008 0.01 6 8 3 0.015 3 0 0 0 0 25.6 57410 chr18 56940291 56940291 T G rs150622912 RAX Nonsynonymous SNV T50P 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign 8.422 57411 chr19 14772878 14772878 C T rs61729084 ADGRE3 Synonymous SNV V84V 0.047 0.034 0.044 17 55 13 0.044 13 1 0 0 0 5.004 57412 chr17 7483342 7483342 C T rs140285995 CD68 Synonymous SNV N61N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.87 57413 chr19 14827830 14827830 C A rs3885179 ZNF333 Nonsynonymous SNV A251E 0.054 0.042 0.051 17 63 16 0.044 15 1 0 0 0 23.1 57414 chr6 148854066 148854066 C T rs149897928 SASH1 Synonymous SNV T327T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.76 57415 chr7 73601998 73601998 G A rs201237184 EIF4H Synonymous SNV E39E 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 11.44 57416 chr3 108723983 108723983 C T rs35421732 MORC1 Nonsynonymous SNV M649I 0.027 0.021 0.041 11 32 8 0.028 12 1 0 0 0 0.272 57417 chr7 86539229 86539229 A G rs34321015 KIAA1324L Nonsynonymous SNV V513A 0.009 0.003 0.01 4 11 1 0.01 3 0 0 0 0 25.3 57418 chr3 108867128 108867128 A G rs4855697 C3orf85 Synonymous SNV E26E 0 0 0.333 0 0 0 0 98 0 0 17 0 14.72 57419 chr7 87060844 87060844 C T rs45575636 ABCB4 Nonsynonymous SNV R590Q 0.008 0 0.01 5 9 0 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 35 57420 chr18 61390365 61390365 T C rs192457429 SERPINB11 Nonsynonymous SNV L129P 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 25.4 57421 chr7 87846445 87846445 C A SRI Nonsynonymous SNV G66V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 57422 chr7 91646406 91646406 G A rs146797353 AKAP9 Nonsynonymous SNV R1276Q 0.013 0 0.017 5 15 0 0.013 5 0 0 0 0 Benign/Likely benign 6.202 57423 chr6 152686071 152686071 A G rs140861713 SYNE1 Synonymous SNV S3359S 0.02 0.029 0 6 24 11 0.015 0 0 2 0 0 Benign/Likely benign 11.98 57424 chr6 152686090 152686090 G T rs150170988 SYNE1 Nonsynonymous SNV S3353Y 0.02 0.029 0 6 24 11 0.015 0 0 2 0 0 Benign/Likely benign 17.84 57425 chr17 79169727 79169727 T C rs143331394 CEP131 Nonsynonymous SNV S642G 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 3.398 57426 chr7 82784831 82784831 - GTG rs762371134 PCLO Q375_T376insH 0.06 0.057 0.088 9 71 22 0.023 26 1 1 1 0 57427 chr7 82784833 82784833 - GAGCTGGAGGCTTAGCAGGACCAAGAG PCLO Q374_Q375insPLGPAKPPA 0.063 0.06 0.085 9 74 23 0.023 25 1 1 1 0 57428 chr7 83610726 83610726 C G rs10487865 SEMA3A Synonymous SNV G521G 0.025 0.023 0.031 12 29 9 0.031 9 1 0 0 0 13.78 57429 chr19 16860392 16860392 C T rs706763 NWD1 Synonymous SNV C107C 0.061 0.083 0.051 27 72 32 0.069 15 3 0 0 1 8.644 57430 chr3 113049270 113049270 T A rs6768642 CFAP44 Nonsynonymous SNV K1287N 0.03 0.042 0.044 8 35 16 0.021 13 0 0 1 0 0.001 57431 chr19 16890243 16890243 C G rs773930 NWD1 Nonsynonymous SNV Q694E 0.071 0.086 0.054 27 83 33 0.069 16 3 0 1 1 0.001 57432 chr17 76851794 76851794 G A rs377028476 TIMP2 Synonymous SNV G206G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.02 57433 chr3 113165480 113165480 T G rs57006145 SPICE1 Nonsynonymous SNV T824P 0.025 0.039 0.037 6 29 15 0.015 11 0 0 1 0 27 57434 chr19 16899865 16899865 A G rs2608738 NWD1 Nonsynonymous SNV H729R 0.083 0.089 0.065 32 97 34 0.082 19 7 0 1 1 0.057 57435 chr18 72223591 72223591 - TGCTGC CNDP1 L20_E21insLL 0.037 0.031 0.031 17 44 12 0.044 9 1 0 0 1 57436 chr19 16918660 16918660 C T NWD1 Nonsynonymous SNV P1128S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 57437 chr17 77079575 77079575 G A rs117024973 ENGASE Nonsynonymous SNV R385Q 0.008 0.013 0.024 3 9 5 0.008 7 0 0 0 0 23.6 57438 chr17 7751993 7751993 C A KDM6B Nonsynonymous SNV P796Q 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 8.645 57439 chr7 89856643 89856643 A G rs138124501 STEAP2 Nonsynonymous SNV Y284C 0.006 0 0 4 7 0 0.01 0 0 0 0 0 24.8 57440 chr6 158487551 158487551 T C rs140670406 SYNJ2 Nonsynonymous SNV M297T 0.009 0.008 0.01 6 11 3 0.015 3 0 0 0 0 11.99 57441 chr7 99022909 99022909 T C rs779285962 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV T416A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.003 57442 chr7 99032801 99032801 T C rs140634486 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV Q22R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.001 57443 chr19 17108136 17108136 G A rs61744196 CPAMD8 Nonsynonymous SNV R294W 0.049 0.049 0.044 7 58 19 0.018 13 3 0 0 0 27.3 57444 chr7 99081755 99081755 G A rs201356437 ZNF789 Nonsynonymous SNV S68N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.267 57445 chr18 77227554 77227554 C T rs35099556 NFATC1 Synonymous SNV Y216Y 0.023 0.016 0.014 9 27 6 0.023 4 1 0 0 0 6.042 57446 chr7 107002504 107002504 T C rs34087251 COG5 Nonsynonymous SNV I365V 0.046 0.044 0.041 19 54 17 0.049 12 2 1 0 0 Benign 0.943 57447 chr17 80141798 80141798 C T rs752746987 CCDC57 Nonsynonymous SNV D355N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 57448 chr7 92099310 92099310 A G rs142852059 ERVW-1 Nonsynonymous SNV V129A 0.02 0.026 0.014 6 23 10 0.015 4 0 0 0 0 11.78 57449 chr7 107217020 107217020 G A rs6957510 DUS4L, DUS4L-BCAP29 Nonsynonymous SNV R230Q 0.037 0.031 0.034 14 43 12 0.036 10 2 1 0 0 22.3 57450 chr3 119219579 119219579 T C rs149492706 TIMMDC1 Nonsynonymous SNV C78R 0.03 0.021 0.017 7 35 8 0.018 5 1 0 0 0 5.32 57451 chr17 78091484 78091484 C T rs139850074 GAA Nonsynonymous SNV T806M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 57452 chr7 107420206 107420206 G A rs117703371 SLC26A3 Synonymous SNV S438S 0.026 0.021 0.014 16 31 8 0.041 4 2 0 0 0 Benign/Likely benign 14.94 57453 chr19 17373785 17373785 A G rs768501914 USHBP1 Nonsynonymous SNV M9T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.007 57454 chr18 77805778 77805778 C G rs140828193 RBFA Nonsynonymous SNV P219A 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.003 57455 chr7 92985292 92985292 C T VPS50 Nonsynonymous SNV T892I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 32 57456 chr3 119428734 119428734 C T rs114121988 MAATS1 Synonymous SNV A38A 0.029 0.026 0.041 8 34 10 0.021 12 1 0 1 0 14.33 57457 chr17 80400211 80400211 C T rs780539275 HEXD Nonsynonymous SNV P379L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 57458 chr7 113518434 113518434 C A rs1799999 PPP1R3A Nonsynonymous SNV D905Y 0.126 0.172 0.146 45 148 66 0.115 43 13 7 5 2 Uncertain significance 24.7 57459 chr17 80544055 80544102 GGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGG - FOXK2 Stop gain G519* 0.001 0 0.003 0 1 0 0 1 0 0 0 0 57460 chr19 17278842 17278842 G A rs200288190 MYO9B Synonymous SNV T587T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.94 57461 chr7 96635421 96635429 GCCGCCGCC - rs752782873 DLX6 P51_P53del 0.014 0.008 0 5 16 3 0.013 0 0 0 0 0 57462 chr7 96635429 96635429 - GCC DLX6 P53_Q54insP 0.003 0 0 1 4 0 0.003 0 0 0 0 0 57463 chr19 17651266 17651266 G A rs201443040 NIBAN3 Nonsynonymous SNV V106M 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 13.72 57464 chr3 121410603 121410603 T C GOLGB1 Synonymous SNV A2456A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.076 57465 chr3 121416813 121416813 G A rs114420009 GOLGB1 Nonsynonymous SNV L773F 0.011 0.016 0.01 11 13 6 0.028 3 0 0 0 0 Benign 24 57466 chr7 98655066 98655066 G A rs773571487 SMURF1 Synonymous SNV A104A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.551 57467 chr7 99459256 99459256 C T rs17342647 CYP3A43 Synonymous SNV A239A 0.05 0.044 0.065 18 59 17 0.046 19 0 0 0 1 10.75 57468 chr7 122634843 122634843 C T rs1204014 TAS2R16 Synonymous SNV T282T 0.03 0.047 0.017 9 35 18 0.023 5 1 0 0 0 12.2 57469 chr17 78857278 78857278 G A rs34848699 RPTOR Synonymous SNV T548T 0.018 0.01 0.014 7 21 4 0.018 4 0 0 0 0 Benign 9.844 57470 chr6 160829801 160829801 T C rs147615801 SLC22A3 Synonymous SNV G235G 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 3.052 57471 chr6 160962185 160962185 A G rs200086599 LPA Synonymous SNV L1850L 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 7.033 57472 chr19 1003162 1003162 C T rs113181909 GRIN3B Nonsynonymous SNV P154S 0.028 0.023 0.01 13 33 9 0.033 3 0 0 0 0 13.82 57473 chr19 1003657 1003657 G A rs61744452 GRIN3B Nonsynonymous SNV A319T 0.034 0.031 0.031 11 40 12 0.028 9 0 0 0 0 0.042 57474 chr17 79093275 79093275 G A rs8082016 AATK Nonsynonymous SNV T1227M 0.044 0.036 0.041 16 52 14 0.041 12 1 0 0 0 23.5 57475 chr7 100276355 100276355 C T rs17850902 GNB2 Synonymous SNV L318L 0.009 0.008 0.01 3 10 3 0.008 3 0 0 0 0 10.24 57476 chr3 122545722 122545722 G A rs764800886 SLC49A4 Synonymous SNV T171T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.33 57477 chr19 17597661 17597661 A T rs61743602 SLC27A1 Nonsynonymous SNV M153L 0.026 0.026 0.027 12 30 10 0.031 8 0 1 0 1 20.8 57478 chr3 123046510 123046510 C G rs61734561 ADCY5 Nonsynonymous SNV E284D 0.02 0.018 0.014 5 23 7 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 15.1 57479 chr7 127979372 127979372 T G rs61733108 RBM28 Nonsynonymous SNV N94T 0.014 0.029 0.01 7 16 11 0.018 3 0 0 0 0 10.38 57480 chr7 127983761 127983761 C T rs144136436 RBM28 Synonymous SNV P29P 0.014 0.023 0.01 6 16 9 0.015 3 0 0 0 0 Benign 21.6 57481 chr19 10116777 10116777 G A rs148135999 COL5A3 Synonymous SNV L73L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.385 57482 chr3 124352728 124352728 G A rs652863 KALRN Synonymous SNV P134P 0.067 0.057 0.031 33 79 22 0.085 9 2 2 0 2 14.23 57483 chr6 168458002 168458002 G A rs55991596 FRMD1 Synonymous SNV A407A 0.066 0.057 0.031 24 78 22 0.062 9 2 0 1 0 9.309 57484 chr19 10397845 10397845 A C ICAM4 Nonsynonymous SNV S53R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 57485 chr7 128491324 128491324 C T rs181067717 FLNC Nonsynonymous SNV R1827C 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign/Likely benign 34 57486 chr6 168910752 168910752 G A rs146188888 SMOC2 Nonsynonymous SNV R81Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26 57487 chr19 10426597 10426597 T C rs62640397 FDX2 Nonsynonymous SNV R29G 0.051 0.034 0.024 20 60 13 0.051 7 1 0 0 2 Benign 0.017 57488 chr19 10439501 10439501 C T rs3745263 RAVER1 Synonymous SNV S191S 0.052 0.034 0.024 22 61 13 0.056 7 1 0 0 2 14.41 57489 chr19 10439540 10439540 A G rs3745262 RAVER1 Synonymous SNV A178A 0.051 0.034 0.024 20 60 13 0.051 7 1 0 0 2 2.569 57490 chr19 18562438 18562438 C T rs2303694 ELL Nonsynonymous SNV S297N 0.089 0.078 0.095 24 105 30 0.062 28 6 0 2 0 0.019 57491 chr19 10439711 10439711 A G rs3745261 RAVER1 Synonymous SNV R121R 0.051 0.034 0.024 20 60 13 0.051 7 1 0 0 2 0.479 57492 chr19 18685892 18685892 G T UBA52 Nonsynonymous SNV A78S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 57493 chr19 18707795 18707795 G T rs780915776 CRLF1 Nonsynonymous SNV S254R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 57494 chr17 80042792 80042792 C T rs2228305 FASN Nonsynonymous SNV V1483I 0.027 0.021 0.034 15 32 8 0.038 10 1 0 0 0 5.326 57495 chr19 10600418 10600418 G A rs35074907 KEAP1 Synonymous SNV D479D 0.025 0.044 0.041 15 29 17 0.038 12 0 0 0 0 3.407 57496 chr19 1052252 1052252 G A rs758401262 ABCA7 Nonsynonymous SNV E1063K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 6.401 57497 chr19 1912986 1912986 C T rs76159002 ADAT3 Synonymous SNV L298L 0.081 0.076 0.116 26 95 29 0.067 34 3 1 2 0 12.42 57498 chr6 170627174 170627174 C T rs61733632 FAM120B Synonymous SNV D244D 0.01 0.013 0.003 4 12 5 0.01 1 0 0 0 0 6.379 57499 chr19 19304899 19304899 G C rs34282046 RFXANK Nonsynonymous SNV E48D 0.045 0.044 0.044 17 53 17 0.044 13 0 0 0 0 Benign/Likely benign 0.383 57500 chr19 10574477 10574477 G A rs201862606 PDE4A Synonymous SNV R345R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.441 57501 chr3 127649010 127649010 G A rs142019537 KBTBD12 Nonsynonymous SNV S459N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 57502 chr19 19431690 19431704 GCGGCCCAGGCGGCG - rs771066544 MAU2 A13_A17del 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 57503 chr3 128292063 128292063 T - rs200346912 LINC01565 0 0 0.197 0 0 0 0 58 0 0 0 0 57504 chr19 19760739 19760739 G A rs755270116 ATP13A1 Synonymous SNV C782C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.906 57505 chr3 128525253 128525253 C T rs4548 RAB7A Synonymous SNV L73L 0.049 0.06 0.075 14 58 23 0.036 22 4 1 1 0 Benign/Likely benign 14.18 57506 chr19 20117685 20117685 G A rs2075090 ZNF682 Nonsynonymous SNV T177I 0.041 0.052 0.092 21 48 20 0.054 27 0 0 1 1 13.15 57507 chr19 11101993 11101993 G A rs17001073 SMARCA4 Synonymous SNV K471K 0.023 0.013 0.031 6 27 5 0.015 9 0 0 0 0 Benign 13.65 57508 chr19 11105593 11105593 A G rs17001075 SMARCA4 Synonymous SNV A503A 0.023 0.013 0.031 6 27 5 0.015 9 0 0 0 0 Benign 12.77 57509 chr7 100550438 100550438 C T MUC3A Nonsynonymous SNV P340L 0.02 0.029 0 8 24 11 0.021 0 0 0 0 0 6.213 57510 chr3 129112552 129112552 C T rs73202263 RPL32P3 0 0 0.051 0 0 0 0 15 0 0 1 0 0.419 57511 chr7 100550445 100550445 C T rs761179735 MUC3A Synonymous SNV S342S 0.022 0.029 0 7 26 11 0.018 0 0 0 0 0 3.891 57512 chr7 100550446 100550446 A G rs769060224 MUC3A Nonsynonymous SNV T343A 0.023 0.029 0 8 27 11 0.021 0 0 0 0 0 3.514 57513 chr7 100550449 100550449 G C rs765526058 MUC3A Nonsynonymous SNV V344L 0.024 0.029 0 10 28 11 0.026 0 0 0 0 0 0.661 57514 chr19 18976575 18976575 G A rs151048153 UPF1 Synonymous SNV P1086P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.82 57515 chr7 100550457 100550457 C T rs781058334 MUC3A Synonymous SNV D346D 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 4.321 57516 chr3 129196984 129196984 C T rs61744639 IFT122 Nonsynonymous SNV R314W 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign/Likely benign 34 57517 chr7 100550468 100550468 A G rs77331562 MUC3A Nonsynonymous SNV K350R 0.078 0.099 0.259 37 91 38 0.095 76 0 0 0 0 3.106 57518 chr7 100550471 100550471 T C rs769206651 MUC3A Nonsynonymous SNV I351T 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 2.323 57519 chr7 100550484 100550484 A C MUC3A Synonymous SNV T355T 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 0.858 57520 chr7 100550486 100550486 G A MUC3A Nonsynonymous SNV S356N 0.01 0.003 0 0 12 1 0 0 0 0 0 0 4.368 57521 chr3 129289978 129289978 G A rs144843366 PLXND1 Nonsynonymous SNV R1169C 0.004 0 0.014 0 5 0 0 4 0 0 0 0 Benign 22.9 57522 chr7 100550543 100550543 C T rs76777205 MUC3A Nonsynonymous SNV P375L 0.036 0.018 0.014 1 42 7 0.003 4 0 0 0 0 8.202 57523 chr7 100550544 100550544 A C rs75037819 MUC3A Synonymous SNV P375P 0.033 0.021 0.014 3 39 8 0.008 4 0 0 0 0 2.98 57524 chr7 100550552 100550552 A T rs77957081 MUC3A Nonsynonymous SNV E378V 0.034 0.018 0.02 4 40 7 0.01 6 0 0 0 0 2.346 57525 chr17 8093240 8093240 C T rs183207665 BORCS6 Synonymous SNV P73P 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 9.215 57526 chr7 100550564 100550564 C T rs75269566 MUC3A Nonsynonymous SNV T382I 0.05 0.029 0.065 9 59 11 0.023 19 0 0 0 0 5.201 57527 chr7 100550568 100550568 T A rs78115301 MUC3A Synonymous SNV P383P 0.053 0.044 0.078 20 62 17 0.051 23 0 0 0 0 5.931 57528 chr7 100550570 100550570 T C rs76035900 MUC3A Nonsynonymous SNV M384T 0.07 0.055 0.139 26 82 21 0.067 41 0 0 0 0 0.704 57529 chr7 100550571 100550571 G A rs146166922 MUC3A Nonsynonymous SNV M384I 0.067 0.044 0.078 22 79 17 0.056 23 0 0 0 0 3.224 57530 chr7 100550589 100550589 C G rs80123018 MUC3A Synonymous SNV T390T 0.078 0.068 0.088 43 91 26 0.11 26 0 0 0 0 2.233 57531 chr19 11437473 11437473 - G rs150288932 TSPAN16 Frameshift insertion S233Vfs*10 0.063 0.057 0 20 74 22 0.051 0 13 6 0 4 57532 chr19 21476807 21476807 A C rs146185092 ZNF708 Nonsynonymous SNV S257A 0.01 0.026 0 4 12 10 0.01 0 0 0 0 0 2.42 57533 chr19 11305178 11305178 C T rs139512726 KANK2 Nonsynonymous SNV V4I 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 Likely benign 23.4 57534 chr17 8134785 8134785 T C rs200643329 CTC1 Synonymous SNV T826T 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 57535 chr19 20002439 20002439 G T rs75543118 ZNF253 Nonsynonymous SNV G52V 0.019 0.021 0.034 7 22 8 0.018 10 0 0 0 0 12.27 57536 chr19 11348911 11348911 A G rs7252937 DOCK6 Synonymous SNV A571A 0.048 0.07 0.065 17 56 27 0.044 19 1 2 0 0 0.099 57537 chr19 11348960 11348960 G A rs12609039 DOCK6 Nonsynonymous SNV P555L 0.042 0.057 0.051 15 49 22 0.038 15 1 1 0 0 32 57538 chr19 11361618 11361618 G A rs751649365 DOCK6 Nonsynonymous SNV R218C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 20.5 57539 chr7 4153824 4153824 A G rs2141076 SDK1 Synonymous SNV E1247E 0.135 0.122 0.116 70 159 47 0.179 34 19 3 3 8 3.631 57540 chr19 2230451 2230451 G A rs144983547 PLEKHJ1 Nonsynonymous SNV A182V 0.026 0.031 0.01 6 31 12 0.015 3 0 0 0 0 5.909 57541 chr19 12780204 12780204 T C rs117131055 WDR83OS Nonsynonymous SNV N5S 0.016 0.013 0.007 2 19 5 0.005 2 1 0 0 0 0.03 57542 chr19 12805424 12805424 C T rs117566511 FBXW9 Nonsynonymous SNV R221Q 0.016 0.013 0.007 2 19 5 0.005 2 1 0 0 0 2.052 57543 chr19 12978655 12978655 C T rs56114354 MAST1 Synonymous SNV P810P 0.014 0.013 0.003 6 17 5 0.015 1 1 0 0 0 15.9 57544 chr19 23329081 23329081 C T rs140123624 ZNF730 Nonsynonymous SNV T412I 0.045 0.068 0.024 16 53 26 0.041 7 0 2 0 1 17.64 57545 chr3 132218621 132218621 G A rs61748103 DNAJC13 Nonsynonymous SNV R1462H 0.003 0.005 0.024 5 4 2 0.013 7 0 0 0 0 Benign 23.2 57546 chr19 12383540 12383540 G C rs56056044 ZNF44 Synonymous SNV G478G 0.164 0.148 0.167 70 192 57 0.179 49 24 5 5 5 4.464 57547 chr19 23542408 23542408 T C rs759136034 ZNF91 Nonsynonymous SNV K1093E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.62 57548 chr19 14003969 14003969 G C rs62622787 C19orf57 Nonsynonymous SNV L231V 0.029 0.021 0.048 11 34 8 0.028 14 4 0 0 1 13.22 57549 chr19 2222325 2222325 G A rs144165419 DOT1L Nonsynonymous SNV A1053T 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 0.136 57550 chr18 32720315 32720315 G A rs140836474 MAPRE2 Synonymous SNV P269P 0.025 0.016 0.007 10 29 6 0.026 2 0 0 0 0 Benign 0.445 57551 chr19 1460193 1460193 C T rs34953512 APC2 Synonymous SNV A438A 0.026 0.034 0.051 10 30 13 0.026 15 0 0 0 0 19.19 57552 chr19 24115369 24115369 T C rs56014490 ZNF726 Synonymous SNV L151L 0.094 0.07 0.041 36 110 27 0.092 12 17 2 1 5 0.005 57553 chr3 134089758 134089758 C T rs143351962 AMOTL2 Nonsynonymous SNV R231Q 0.009 0.003 0.01 5 11 1 0.013 3 1 0 0 0 Benign 29.5 57554 chr19 24309080 24309080 A G rs17854260 ZNF254 Nonsynonymous SNV D8G 0.041 0.049 0.031 17 48 19 0.044 9 0 1 0 0 20.2 57555 chr19 24310413 24310413 G C rs12611425 ZNF254 Nonsynonymous SNV K452N 0.045 0.052 0.024 18 53 20 0.046 7 0 1 0 0 15.69 57556 chr7 6193752 6193752 G A rs61753119 USP42 Nonsynonymous SNV S856N 0.057 0.052 0.061 15 67 20 0.038 18 4 0 2 0 16.15 57557 chr7 6194383 6194383 C T rs73058659 USP42 Synonymous SNV Y1066Y 0.056 0.052 0.061 16 66 20 0.041 18 4 0 2 0 11.51 57558 chr7 6210473 6210473 C A CYTH3 Nonsynonymous SNV E66D 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.8 57559 chr7 6449591 6449591 A G rs141846216 DAGLB Synonymous SNV G503G 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 Benign 9.667 57560 chr3 13612107 13612107 C T rs17038305 FBLN2 Synonymous SNV P84P 0.011 0.01 0.044 7 13 4 0.018 13 0 0 1 0 6.323 57561 chr3 13612286 13612286 A G rs28587534 FBLN2 Nonsynonymous SNV H144R 0.012 0.013 0.044 7 14 5 0.018 13 0 0 1 0 0.001 57562 chr3 13613015 13613015 A C rs3796318 FBLN2 Nonsynonymous SNV N387T 0.012 0.013 0.044 7 14 5 0.018 13 0 0 1 0 0.076 57563 chr3 13613064 13613064 A G rs7623097 FBLN2 Synonymous SNV R403R 0.012 0.013 0.044 7 14 5 0.018 13 0 0 1 0 0.662 57564 chr19 2422034 2422034 C A rs553359939 TMPRSS9 Synonymous SNV P745P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.523 57565 chr7 6647760 6647760 G A rs534448358 C7orf26 Nonsynonymous SNV G440S 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 23.9 57566 chr7 101921289 101921289 A G rs2230103 CUX1 Nonsynonymous SNV I529V 0.068 0.083 0.051 29 80 32 0.074 15 0 2 0 1 7.655 57567 chr3 13659897 13659897 A C rs4596126 SNORA93 0 0 0.119 0 0 0 0 35 0 0 5 0 0.188 57568 chr3 13661267 13661267 G C rs372072676 FBLN2 Synonymous SNV G697G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.166 57569 chr19 1457002 1457002 G C rs143870588 APC2 Nonsynonymous SNV G322R 0.009 0.016 0.007 7 11 6 0.018 2 0 0 0 0 29.7 57570 chr3 139108716 139108716 T A rs11706576 LOC100507291 0 0 0.259 0 0 0 0 76 0 0 21 0 8.684 57571 chr7 7613039 7613039 C T rs61744397 MIOS Synonymous SNV P311P 0.099 0.112 0.109 44 116 43 0.113 32 5 3 3 2 7.169 57572 chr19 1496348 1496348 G A rs150955785 REEP6 Nonsynonymous SNV R138H 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 20.2 57573 chr19 14991439 14991439 T G rs34590588 OR7A17 Synonymous SNV S243S 0.026 0.026 0.031 14 30 10 0.036 9 0 0 0 0 0.042 57574 chr19 14991459 14991459 C T rs13345394 OR7A17 Nonsynonymous SNV A237T 0.026 0.026 0.031 14 30 10 0.036 9 0 0 0 0 24.4 57575 chr19 3006535 3006535 G A rs368584499 TLE2 Synonymous SNV C339C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.88 57576 chr19 1490285 1490285 G A rs73516829 PCSK4 Nonsynonymous SNV P21S 0.05 0.055 0.054 13 59 21 0.033 16 1 3 1 0 0.066 57577 chr7 107341628 107341628 T C rs55638457 SLC26A4 Nonsynonymous SNV L597S 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 57578 chr7 107569900 107569900 T C LAMB1 Nonsynonymous SNV I1568V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.477 57579 chr3 142133024 142133024 C T XRN1 Nonsynonymous SNV A516T 0 0 0.007 0 0 0 0 2 0 0 0 0 33 57580 chr19 327207 327207 T C rs150312475 MIER2 Nonsynonymous SNV Q104R 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 21.3 57581 chr19 15052420 15052420 C T rs146850577 OR7C2 Synonymous SNV I40I 0.023 0.013 0.024 7 27 5 0.018 7 0 0 0 0 11.06 57582 chr7 111368454 111368454 G A rs34597439 DOCK4 Nonsynonymous SNV S1926L 0.055 0.057 0.058 9 65 22 0.023 17 2 2 0 1 7.976 57583 chr19 33696597 33696597 C T rs113839017 LRP3 Synonymous SNV Y307Y 0.026 0.021 0.003 4 31 8 0.01 1 0 0 0 0 2.837 57584 chr18 44137400 44137400 C T rs118174674 LOXHD1 Nonsynonymous SNV R1090Q 0.016 0.005 0.024 3 19 2 0.008 7 1 0 1 0 Conflicting interpretations of pathogenicity 20.2 57585 chr19 1528051 1528051 G A rs943611813 PLK5 Nonsynonymous SNV R40H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.635 57586 chr7 100649758 100649758 G T rs555137488 MUC12 Nonsynonymous SNV C4988F 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 15.96 57587 chr19 34302362 34302362 G A rs376123855 KCTD15 Nonsynonymous SNV V200I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 57588 chr18 45566996 45566996 C A rs201261592 ZBTB7C Nonsynonymous SNV E161D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 57589 chr3 148786085 148786085 T C rs2305868 HLTF Nonsynonymous SNV N311S 0.033 0.047 0.058 12 39 18 0.031 17 0 0 0 1 23.2 57590 chr19 35250691 35250692 AG - rs148227520 ZNF599 Stop gain Y339* 0.014 0.018 0.014 3 16 7 0.008 4 0 0 0 0 57591 chr7 149485018 149485018 G A rs62617120 SSPO 0.012 0.005 0.014 5 14 2 0.013 4 0 0 0 0 6.185 57592 chr19 15569378 15569378 G C rs58123634 RASAL3 Nonsynonymous SNV L251V 0.031 0.044 0.071 12 36 17 0.031 21 1 0 0 0 17.89 57593 chr19 3539220 3539220 G A rs573806279 C19orf71 Synonymous SNV S15S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.586 57594 chr7 100883145 100883145 A T FIS1 Nonsynonymous SNV L134Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 57595 chr19 15580694 15580694 G A rs61734899 PGLYRP2 Nonsynonymous SNV H464Y 0.009 0.01 0.024 3 11 4 0.008 7 0 0 0 0 16.42 57596 chr19 15586440 15586440 C T rs749410944 PGLYRP2 Synonymous SNV E347E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 5.228 57597 chr7 149505703 149505703 A G rs144228485 SSPO 0.008 0 0.014 1 9 0 0.003 4 0 0 0 0 15.98 57598 chr19 15587067 15587067 T A rs35927052 PGLYRP2 Synonymous SNV I138I 0.009 0.01 0.024 3 11 4 0.008 7 0 0 0 0 1.443 57599 chr7 101892307 101892307 C T rs202056533 CUX1 Synonymous SNV I1512I 0.004 0.018 0.003 0 5 7 0 1 0 0 0 0 Likely benign 13.76 57600 chr19 15587103 15587103 C T rs35973013 PGLYRP2 Synonymous SNV A126A 0.009 0.01 0.024 3 11 4 0.008 7 0 0 0 0 11.32 57601 chr19 3478456 3478456 G A rs145723843 SMIM24 Nonsynonymous SNV T67I 0.014 0.016 0.007 2 17 6 0.005 2 0 0 0 0 8.206 57602 chr19 3492318 3492318 G C rs78287632 DOHH Synonymous SNV R177R 0.026 0.042 0.02 5 31 16 0.013 6 0 0 0 0 8.119 57603 chr7 18631140 18631140 G T HDAC9 Nonsynonymous SNV R105S 0.012 0.013 0 2 14 5 0.005 0 1 0 0 0 6.976 57604 chr19 35250350 35250350 C T rs61730324 ZNF599 Synonymous SNV E452E 0.021 0.031 0.014 9 25 12 0.023 4 0 0 0 0 13.8 57605 chr7 104717489 104717489 G A rs775980757 KMT2E Nonsynonymous SNV R283Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.7 57606 chr7 105658451 105658451 G A rs6967330 CDHR3 Nonsynonymous SNV C441Y 0.166 0.148 0.207 67 195 57 0.172 61 12 2 7 2 3.451 57607 chr7 149523785 149523785 G A rs368194421 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 0.408 57608 chr19 35450111 35450111 C T rs35715851 ZNF792 Synonymous SNV G216G 0.041 0.034 0.027 11 48 13 0.028 8 0 0 0 2 7.624 57609 chr7 105658460 105658460 C G rs73195662 CDHR3 Nonsynonymous SNV T444S 0.07 0.063 0.071 32 82 24 0.082 21 1 0 1 2 6.889 57610 chr7 105662690 105662690 T C rs10258293 CDHR3 Synonymous SNV N536N 0.178 0.167 0.218 72 209 64 0.185 64 13 4 8 3 4.57 57611 chr18 51053071 51053071 T C rs781160141 DCC Nonsynonymous SNV V1399A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 57612 chr7 21675666 21675666 C G rs878854443 DNAH11 Nonsynonymous SNV L1560V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 27.8 57613 chr7 106522592 106522592 A G rs28763991 PIK3CG Nonsynonymous SNV T857A 0.053 0.06 0.099 31 62 23 0.079 29 4 1 1 1 11.74 57614 chr7 150217309 150217309 C T rs3735080 GIMAP7 Nonsynonymous SNV R83C 0.198 0.159 0.204 79 233 61 0.203 60 23 4 7 5 23.2 57615 chr7 150325175 150325175 C T rs13234724 GIMAP6 Nonsynonymous SNV G241S 0.158 0.117 0.163 64 186 45 0.164 48 15 1 5 5 24.5 57616 chr19 36024445 36024445 A G rs772564460 GAPDHS Nonsynonymous SNV I6V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.238 57617 chr19 36041959 36041959 C T rs149744668 ATP4A Synonymous SNV L980L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.83 57618 chr19 16688252 16688252 C T rs769267106 MED26 Nonsynonymous SNV R130H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 57619 chr7 107746432 107746432 G A rs2074749 LAMB4 Nonsynonymous SNV H234Y 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 26.6 57620 chr19 36051820 36051820 G A rs60726757 ATP4A Synonymous SNV I145I 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 11.66 57621 chr19 16860084 16860084 C T rs11668502 NWD1 Nonsynonymous SNV L5F 0.04 0.026 0.017 16 47 10 0.041 5 0 0 0 0 24.5 57622 chr19 36053448 36053448 G A rs10422358 ATP4A Synonymous SNV F103F 0.015 0.008 0.007 1 18 3 0.003 2 0 0 0 0 7.905 57623 chr19 16860558 16860558 G A rs61733271 NWD1 Nonsynonymous SNV V163I 0.041 0.026 0.017 16 48 10 0.041 5 0 0 0 0 12.69 57624 chr3 15628040 15628040 T A rs74637339 HACL1 Nonsynonymous SNV I124F 0.014 0.023 0.024 4 17 9 0.01 7 0 0 0 0 23.8 57625 chr19 16860602 16860602 T C rs61731252 NWD1 Synonymous SNV R177R 0.04 0.026 0.017 16 47 10 0.041 5 0 0 0 0 0.004 57626 chr3 156697055 156697055 - T rs200834448 LEKR1 Frameshift insertion E273Dfs*6 0.007 0.008 0.014 6 8 3 0.015 4 0 0 0 0 57627 chr19 36231288 36231288 C T rs140952221 IGFLR1 Nonsynonymous SNV C112Y 0.01 0.01 0.003 5 12 4 0.013 1 0 0 0 0 23.9 57628 chr7 23793953 23793953 C T rs35995607 STK31 Nonsynonymous SNV R362C 0.021 0.018 0.014 7 25 7 0.018 4 1 0 0 1 24 57629 chr19 17301935 17301935 G A rs55959020 MYO9B Synonymous SNV L906L 0.044 0.044 0.034 19 52 17 0.049 10 0 0 0 0 9.295 57630 chr19 362338 362338 G A rs145779146 THEG Synonymous SNV P310P 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 4.404 57631 chr19 17014386 17014386 G A rs144798490 CPAMD8 Synonymous SNV G1485G 0.009 0.003 0.003 4 11 1 0.01 1 1 0 0 0 Benign 12.08 57632 chr19 17108128 17108128 G A rs201540910 CPAMD8 Synonymous SNV F296F 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 13.29 57633 chr19 17346441 17346441 A T rs146497684 NR2F6 Synonymous SNV P269P 0.063 0.057 0.031 21 74 22 0.054 9 1 0 0 0 0.004 57634 chr7 116533077 116533077 C A CAPZA2 Nonsynonymous SNV L45I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 57635 chr7 150747896 150747896 C T rs114024820 ASIC3 Nonsynonymous SNV P289S 0.014 0.013 0.014 1 17 5 0.003 4 0 0 0 0 Benign 12.18 57636 chr7 117199709 117199709 G A rs1800095 CFTR Synonymous SNV E528E 0.007 0.008 0.01 6 8 3 0.015 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.1 57637 chr7 150773255 150773255 C T rs55913625 SLC4A2 Synonymous SNV T1200T 0.015 0.013 0.014 2 18 5 0.005 4 0 0 0 0 16.58 57638 chr7 117375374 117375374 A C rs62617115 CTTNBP2 Nonsynonymous SNV L1195V 0.026 0.031 0.048 11 30 12 0.028 14 1 0 0 1 22.7 57639 chr19 36530428 36530428 G A rs34250145 THAP8 Nonsynonymous SNV P157S 0.068 0.065 0.065 28 80 25 0.072 19 4 0 0 0 0.113 57640 chr19 36050971 36050971 G A rs138829362 ATP4A Synonymous SNV T264T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 6.039 57641 chr7 151078719 151078719 C A rs4726019 WDR86 Nonsynonymous SNV G187V 0.038 0.036 0.048 14 45 14 0.036 14 8 2 0 1 16.42 57642 chr7 120901720 120901720 G A rs62621839 CPED1 Nonsynonymous SNV R782H 0.01 0.016 0.01 5 12 6 0.013 3 0 0 0 0 1.342 57643 chr3 164735391 164735391 T C rs769650732 SI Nonsynonymous SNV N1235S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.65 57644 chr7 121513570 121513570 G T rs11980387 PTPRZ1 Nonsynonymous SNV R6L 0.031 0.034 0.024 8 36 13 0.021 7 2 1 0 0 21.4 57645 chr7 121699928 121699928 G A rs769053570 PTPRZ1 Nonsynonymous SNV V1398I 0.006 0.005 0 0 7 2 0 0 0 0 0 0 23.2 57646 chr18 43496508 43496508 G A rs72918350 EPG5 Synonymous SNV S1093S 0.014 0.013 0.01 4 16 5 0.01 3 0 0 0 0 Benign 14 57647 chr7 154746119 154746119 A G rs753510380 PAXIP1 Synonymous SNV L889L 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 0.062 57648 chr7 123268961 123268961 C A ASB15 Synonymous SNV R305R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.97 57649 chr19 37368887 37368887 T A rs4806370 ZNF345 Synonymous SNV L385L 0.043 0.042 0.048 17 51 16 0.044 14 0 0 0 0 1.532 57650 chr7 127240344 127240344 A G rs201485979 FSCN3 Nonsynonymous SNV N463S 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 16.45 57651 chr19 17412218 17412218 C T rs3745186 ABHD8 Nonsynonymous SNV G70R 0.049 0.07 0.054 25 57 27 0.064 16 1 0 0 1 14.18 57652 chr19 3641744 3641744 C T rs73920193 PIP5K1C Synonymous SNV A582A 0.012 0.01 0.007 7 14 4 0.018 2 0 0 0 0 Benign 19.14 57653 chr7 127292433 127292433 - TCCTCCGCGCAGAGCGGCGGC rs552710042 SND1 S11_G12insAQSGGSS 0.01 0.005 0.017 8 12 2 0.021 5 0 0 0 0 57654 chr18 57013170 57013170 G A rs145829103 LMAN1 Synonymous SNV P312P 0.014 0.008 0 9 17 3 0.023 0 0 0 0 1 Likely benign 12.56 57655 chr7 30951658 30951658 C T rs28362692 AQP1 Nonsynonymous SNV A45V 0.026 0.018 0.014 11 31 7 0.028 4 0 0 0 0 Benign 14.19 57656 chr19 17746940 17746940 C T rs77267738 UNC13A Synonymous SNV E1036E 0.095 0.081 0.075 32 111 31 0.082 22 5 1 1 0 14.83 57657 chr3 170198268 170198268 A G rs141092007 SLC7A14 Synonymous SNV V601V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.209 57658 chr7 133932334 133932334 C T rs2598264 LRGUK Synonymous SNV H670H 0.011 0.003 0.007 13 13 1 0.033 2 0 0 0 0 13.12 57659 chr3 171320907 171320907 C T rs6766336 PLD1 Synonymous SNV G1024G 0.012 0.005 0.007 1 14 2 0.003 2 1 0 0 0 13.77 57660 chr19 37005808 37005808 A G rs147985036 ZNF260 Synonymous SNV Y111Y 0.036 0.042 0.003 14 42 16 0.036 1 2 0 0 1 0.002 57661 chr7 33102227 33102227 A G rs72555707 NT5C3A Nonsynonymous SNV F31L 0.022 0.029 0.01 7 26 11 0.018 3 0 0 0 0 17.9 57662 chr19 37440805 37440805 C T rs138526239 ZNF568 Synonymous SNV Y186Y 0.032 0.018 0.01 7 37 7 0.018 3 1 0 0 0 9.072 57663 chr19 38028608 38028608 C A ZNF793 Nonsynonymous SNV Q350K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 57664 chr3 178952020 178952020 C T rs17849079 PIK3CA Synonymous SNV T1025T 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign/Likely benign 9.063 57665 chr3 178968660 178968660 T C rs1170672 KCNMB3 Nonsynonymous SNV D40G 0.035 0.044 0.041 15 41 17 0.038 12 0 1 0 1 13.2 57666 chr19 17994573 17994573 A C rs73520743 SLC5A5 Synonymous SNV T442T 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 0.002 57667 chr19 3827507 3827507 C T rs757720623 ZFR2 Nonsynonymous SNV A333T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 57668 chr3 179424862 179424862 A G rs16830742 USP13 Synonymous SNV P206P 0.034 0.047 0.054 23 40 18 0.059 16 1 1 0 1 12.64 57669 chr3 180334719 180334719 C T rs11914833 CCDC39 Synonymous SNV L767L 0.067 0.094 0.095 23 79 36 0.059 28 2 0 3 0 Benign 8.391 57670 chr7 138761058 138761058 T C rs149884603 ZC3HAV1 Synonymous SNV K679K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.025 57671 chr3 180366067 180366067 T C rs2338436 CCDC39 Synonymous SNV E416E 0.046 0.068 0.082 19 54 26 0.049 24 0 1 2 0 Benign 1.403 57672 chr18 55359082 55359082 T C rs34315917 ATP8B1 Nonsynonymous SNV I343V 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 Benign/Likely benign 22.9 57673 chr3 182165734 182165734 T G rs9850537 LINC01994 0 0 0.163 0 0 0 0 48 0 0 7 0 2.801 57674 chr3 182165738 182165738 A C rs9868038 LINC01994 0 0 0.17 0 0 0 0 50 0 0 7 0 2.495 57675 chr18 56246748 56246748 G A rs75412529 ALPK2 Synonymous SNV H420H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.229 57676 chr19 38857909 38857909 C T rs144017491 CATSPERG Synonymous SNV C869C 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 8.557 57677 chr19 19431686 19431697 GGCAGCGGCCCA - rs550594758 MAU2 Q10_A13del 0.003 0.01 0 0 3 4 0 0 0 0 0 0 57678 chr18 56247744 56247744 C T rs115018482 ALPK2 Synonymous SNV S88S 0 0.008 0 1 0 3 0.003 0 0 0 0 0 19.53 57679 chr19 20044886 20044886 T C rs10401345 ZNF93 Synonymous SNV C374C 0.026 0.018 0.058 14 30 7 0.036 17 0 0 2 0 3.993 57680 chr18 59166517 59166517 C T rs533224326 CDH20 Synonymous SNV D115D 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 11.54 57681 chr18 71930600 71930600 A G rs372780821 CYB5A Nonsynonymous SNV I81T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 57682 chr19 18895865 18895865 C T rs34467947 COMP Synonymous SNV T585T 0.02 0.023 0.041 5 24 9 0.013 12 0 0 0 0 Benign 18.07 57683 chr19 18967721 18967721 C T rs34677724 UPF1 Synonymous SNV A631A 0.02 0.021 0.024 5 24 8 0.013 7 0 0 0 0 14.92 57684 chr7 138968813 138968813 G A rs61729573 UBN2 Synonymous SNV S1054S 0.013 0.01 0.027 4 15 4 0.01 8 0 0 0 0 8.516 57685 chr19 18979447 18979447 G A GDF1 Stop gain Q360X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 40 57686 chr18 59828420 59828420 G A rs61755362 PIGN Nonsynonymous SNV A56V 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 Benign 29.5 57687 chr19 19030571 19030571 C T rs2231992 DDX49 Synonymous SNV L7L 0.019 0.016 0.031 4 22 6 0.01 9 0 0 0 0 13.17 57688 chr19 19030611 19030611 G A rs139869066 DDX49 Nonsynonymous SNV G21S 0.018 0.005 0.007 7 21 2 0.018 2 0 0 0 0 31 57689 chr18 74207575 74207575 C T rs3813102 C18orf65 0.068 0.102 0 17 80 39 0.044 0 7 3 0 0 11.98 57690 chr19 38966016 38966016 C G RYR1 Nonsynonymous SNV L1407V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.976 57691 chr19 19168228 19168228 C A rs36039745 ARMC6 Nonsynonymous SNV Q408K 0.01 0.018 0.003 7 12 7 0.018 1 0 0 0 0 32 57692 chr3 184603910 184603910 G A rs61742617 VPS8 Nonsynonymous SNV V570I 0.008 0.008 0.007 5 9 3 0.013 2 0 0 0 0 Likely benign 20.6 57693 chr7 140227293 140227293 A G rs6464833 DENND2A Nonsynonymous SNV I777T 0.065 0.063 0.082 27 76 24 0.069 24 3 0 1 0 14.91 57694 chr19 19351431 19351431 G A rs2229851 NCAN Synonymous SNV T1143T 0.028 0.029 0.024 13 33 11 0.033 7 1 0 0 0 15.08 57695 chr7 140267023 140267023 G T rs17161631 DENND2A Synonymous SNV R548R 0.032 0.026 0.037 17 38 10 0.044 11 0 0 0 0 12.67 57696 chr7 45140965 45140965 C T rs17452697 TBRG4 Synonymous SNV A452A 0.009 0.003 0.014 1 10 1 0.003 4 0 0 0 0 20.2 57697 chr19 39421947 39421947 G A rs143032757 MRPS12 Nonsynonymous SNV G5S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.9 57698 chr19 1979811 1979811 A G rs148408595 CSNK1G2 Nonsynonymous SNV T355A 0.046 0.042 0.031 8 54 16 0.021 9 1 0 1 0 0.005 57699 chr19 3964961 3964961 G A rs199986718 DAPK3 Nonsynonymous SNV R31W 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 33 57700 chr19 23032002 23032002 G A rs186722169 ZNF723 Nonsynonymous SNV V45I 0.014 0.003 0 4 17 1 0.01 0 0 0 0 0 0.039 57701 chr19 23032006 23032006 G C rs796490145 ZNF723 Nonsynonymous SNV G46A 0.02 0.003 0 6 23 1 0.015 0 0 0 0 0 0.114 57702 chr19 2078176 2078176 C T rs35452475 MOB3A Synonymous SNV A128A 0.072 0.063 0.082 28 84 24 0.072 24 1 2 1 0 15.36 57703 chr18 77894470 77894470 A G rs36083942 ADNP2 Nonsynonymous SNV I392V 0.025 0.029 0.01 4 29 11 0.01 3 0 0 0 0 0.002 57704 chr18 77918221 77918221 C T rs2280349 PARD6G Synonymous SNV E188E 0.061 0.065 0.034 28 72 25 0.072 10 3 0 1 0 14.28 57705 chr3 187897283 187897283 G A rs13096994 FLJ42393 0 0 0.102 0 0 0 0 30 0 0 4 0 7.63 57706 chr7 141736052 141736052 G A rs114296423 MGAM Synonymous SNV P681P 0.005 0 0 0 6 0 0 0 0 0 0 0 14.56 57707 chr3 189547735 189547735 T C rs75715827 MIR944 0 0 0.061 0 0 0 0 18 0 0 1 0 1.537 57708 chr19 40424399 40424399 G A rs145115634 FCGBP Nonsynonymous SNV R602C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.41 57709 chr19 40433200 40433200 C T rs139397827 FCGBP Nonsynonymous SNV V357M 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 18.31 57710 chr7 148851039 148851039 A G rs148018436 ZNF398 Synonymous SNV T9T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.101 57711 chr18 9255718 9255718 G A rs2298546 ANKRD12 Nonsynonymous SNV S795N 0.027 0.013 0.01 15 32 5 0.038 3 1 0 0 0 4.064 57712 chr7 149129829 149129829 C T rs17852167 ZNF777 Nonsynonymous SNV A512T 0.068 0.042 0.099 24 80 16 0.062 29 4 0 1 0 0.138 57713 chr7 142561786 142561786 T C rs56300555 EPHB6 Synonymous SNV H76H 0.014 0.01 0.024 4 17 4 0.01 7 0 0 0 0 0.146 57714 chr7 142573571 142573571 G A rs147743048 TRPV6 Synonymous SNV I323I 0.015 0.01 0 5 18 4 0.013 0 0 0 0 0 Likely benign 11.9 57715 chr7 48317708 48317708 A C rs78334925 ABCA13 Nonsynonymous SNV K2306T 0.036 0.042 0.034 12 42 16 0.031 10 3 1 0 0 18.8 57716 chr3 194325103 194325103 G A rs745169 TMEM44 Nonsynonymous SNV P362L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.932 57717 chr18 6958609 6958609 T C rs543355 LAMA1 Nonsynonymous SNV T2611A 0.052 0.049 0.037 16 61 19 0.041 11 1 0 1 0 0.002 57718 chr19 2435155 2435155 C T rs145894724 LMNB2 Synonymous SNV T233T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 57719 chr19 40366095 40366095 A G rs112558191 FCGBP Synonymous SNV A4713A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.523 57720 chr19 40366197 40366197 T C rs4029192 FCGBP Synonymous SNV A4679A 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 1.846 57721 chr19 40366356 40366356 A C rs4029188 FCGBP Synonymous SNV A4626A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.002 57722 chr8 12957633 12957633 G A rs149472569 DLC1 Nonsynonymous SNV T227M 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 57723 chr18 6978345 6978345 G A rs9955616 LAMA1 Synonymous SNV L2014L 0.049 0.044 0.044 17 57 17 0.044 13 1 0 1 0 10.42 57724 chr3 194373577 194373577 G A rs34690286 LSG1 Nonsynonymous SNV P352S 0 0 0.007 0 0 0 0 2 0 0 0 0 6.909 57725 chr19 2877365 2877365 C T rs10421121 ZNF556 Nonsynonymous SNV R136C 0.074 0.089 0.095 17 87 34 0.044 28 2 2 1 1 10.76 57726 chr19 40366414 40366414 G C rs4029187 FCGBP Nonsynonymous SNV A4607G 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 0.237 57727 chr3 194408716 194408716 G C rs11914982 FAM43A Synonymous SNV T387T 0.032 0.042 0.041 15 37 16 0.038 12 1 0 0 0 11.5 57728 chr19 40521203 40521203 C T rs114212675 ZNF546 Nonsynonymous SNV R650W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.7 57729 chr19 40580426 40580426 A G rs399405 ZNF780A Synonymous SNV S641S 0.02 0.018 0.017 9 23 7 0.023 5 1 0 0 0 5.513 57730 chr8 13356860 13356860 G C rs61757614 DLC1 Nonsynonymous SNV P241A 0.012 0.018 0.003 3 14 7 0.008 1 0 0 0 0 Likely benign 4.61 57731 chr19 40581677 40581677 G A rs337795 ZNF780A Synonymous SNV N224N 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 11.78 57732 chr7 150033986 150033986 C T rs761974091 LRRC61 Synonymous SNV G12G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 9.394 57733 chr19 41703793 41703793 G A rs57266494 CYP2S1 Synonymous SNV A151A 0.031 0.031 0.024 8 36 12 0.021 7 1 0 0 0 12.26 57734 chr19 40886756 40886756 G A rs55760165 HIPK4 Nonsynonymous SNV T381M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.395 57735 chr7 150490238 150490238 G A rs17256042 TMEM176B Nonsynonymous SNV R143W 0.051 0.055 0.078 11 60 21 0.028 23 1 0 0 0 22.5 57736 chr19 41018832 41018832 A G rs814533 SPTBN4 Synonymous SNV R712R 0.09 0.12 0.092 37 106 46 0.095 27 10 4 2 2 1.173 57737 chr19 41018911 41018911 G A rs112677742 SPTBN4 Nonsynonymous SNV V739M 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Benign 0.514 57738 chr7 150171600 150171634 AGATATAGTGCCTTCAACTACCGGGCAACAGGAGA - rs536291210 GIMAP8 Y396Rfs*13 0.022 0.016 0.003 12 26 6 0.031 1 0 0 0 0 57739 chr19 2936535 2936535 G A rs35699176 ZNF77 Stop gain Q100X 0.027 0.023 0.027 16 32 9 0.041 8 1 0 0 0 24.2 57740 chr7 150325454 150325454 T C rs144748380 GIMAP6 Nonsynonymous SNV T148A 0.019 0.021 0.017 16 22 8 0.041 5 0 0 0 1 0.001 57741 chr19 41292601 41292601 A T rs35573002 RAB4B Synonymous SNV T154T 0.006 0 0.01 3 7 0 0.008 3 0 0 0 0 0.036 57742 chr19 30020752 30020752 C T rs61731469 VSTM2B Synonymous SNV I108I 0.018 0.018 0.048 13 21 7 0.033 14 0 0 2 0 16.09 57743 chr19 3005565 3005565 G T rs982586741 TLE2 Nonsynonymous SNV T467K 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 25.2 57744 chr19 30101339 30101339 G A rs11556817 POP4 Synonymous SNV E28E 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 7.68 57745 chr19 10431799 10431799 G T rs281425 RAVER1 Synonymous SNV P466P 0.06 0.049 0.177 24 70 19 0.062 52 19 6 5 5 4.509 57746 chr7 63981559 63981559 T C rs17852813 ZNF680 Nonsynonymous SNV N525D 0.062 0.055 0.027 22 73 21 0.056 8 2 2 0 1 11.24 57747 chr3 197410187 197410187 G A rs148884163 RUBCN Synonymous SNV A657A 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign 5.425 57748 chr18 76757173 76757173 C A rs138463518 SALL3 Nonsynonymous SNV P1252T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.039 57749 chr19 3110151 3110151 G A rs61731117 GNA11 Synonymous SNV T47T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 7.942 57750 chr7 150554584 150554584 C T rs41465145 AOC1 Synonymous SNV G342G 0.038 0.031 0.054 5 45 12 0.013 16 0 0 0 0 5.074 57751 chr19 42600318 42600318 G T rs775709527 POU2F2 Nonsynonymous SNV H193Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 57752 chr19 3148650 3148650 C T rs145476417 GNA15 Synonymous SNV G69G 0.003 0.003 0.003 7 3 1 0.018 1 0 0 0 0 6.947 57753 chr19 33698018 33698018 C T rs11539586 LRP3 Nonsynonymous SNV A617V 0.056 0.039 0.051 14 66 15 0.036 15 1 0 0 1 4.729 57754 chr18 77171388 77171390 CTC - rs757200440 NFATC1 S373del 0.001 0.003 0.014 2 1 1 0.005 4 0 0 1 0 57755 chr18 77171480 77171480 T C rs200663312 NFATC1 Nonsynonymous SNV L402P 0.01 0.008 0.017 5 12 3 0.013 5 0 0 1 0 Likely benign 7.232 57756 chr7 150557578 150557578 G A rs11771771 AOC1 Nonsynonymous SNV V635M 0.095 0.081 0.102 26 112 31 0.067 30 5 0 2 0 1.281 57757 chr19 42797233 42797233 C T rs759679186 CIC Nonsynonymous SNV R1199W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 57758 chr19 33701478 33701478 C T rs150600610 SLC7A10 Synonymous SNV T386T 0.005 0 0.007 0 6 0 0 2 0 0 0 0 14.06 57759 chr19 42818446 42818446 T A TMEM145 Nonsynonymous SNV F48Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 57760 chr19 42857931 42857931 G A rs763633644 MEGF8 Nonsynonymous SNV G1189S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 57761 chr8 21560455 21560455 G A rs61740069 GFRA2 Synonymous SNV D227D 0.005 0.018 0.017 4 6 7 0.01 5 0 0 0 0 8.7 57762 chr19 33183191 33183191 G A rs201969564 NUDT19 Nonsynonymous SNV D109N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.761 57763 chr19 33183367 33183367 G C rs371803324 NUDT19 Nonsynonymous SNV W167C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 57764 chr7 65579838 65579838 A G rs17138089 CRCP Nonsynonymous SNV E8G 0.028 0.039 0.037 10 33 15 0.026 11 0 0 0 0 8.494 57765 chr19 33183380 33183380 C T rs375826824 NUDT19 Nonsynonymous SNV R172C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.4 57766 chr7 72849221 72849221 A C rs73134914 FZD9 Nonsynonymous SNV D295A 0.015 0.008 0.031 6 18 3 0.015 9 0 0 0 0 24.5 57767 chr19 33291675 33291675 T G rs200960504 TDRD12 Nonsynonymous SNV C692W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 22.4 57768 chr7 151078993 151078993 C T rs151255248 WDR86 Nonsynonymous SNV G334E 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 34 57769 chr3 25671941 25671941 C A rs746161334 TOP2B Nonsynonymous SNV E470D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.7 57770 chr7 154645534 154645534 A C rs140460765 DPP6 Nonsynonymous SNV K464Q 0.01 0.003 0.01 1 12 1 0.003 3 0 0 0 0 Uncertain significance 5.423 57771 chr3 30713842 30713842 C T rs2228048 TGFBR2 Synonymous SNV N389N 0.003 0.008 0.007 4 4 3 0.01 2 0 0 0 0 Benign 12.81 57772 chr8 22481858 22481858 C T rs368036401 BIN3 Synonymous SNV P71P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.88 57773 chr7 154863176 154863176 C T rs149473122 HTR5A Synonymous SNV S189S 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 Benign 12.56 57774 chr18 9255884 9255884 A G rs116236183 ANKRD12 Synonymous SNV L850L 0.017 0.018 0 6 20 7 0.015 0 0 0 0 0 0.012 57775 chr3 33055688 33055688 T C rs73826339 GLB1 Nonsynonymous SNV S401G 0.095 0.086 0.082 36 112 33 0.092 24 5 1 2 3 Benign/Likely benign 0.004 57776 chr18 9258053 9258053 C T rs143265899 ANKRD12 Synonymous SNV A1573A 0.017 0.018 0.014 6 20 7 0.015 4 0 0 0 0 8 57777 chr19 44351298 44351298 A G rs201560248 ZNF283 Nonsynonymous SNV Y43C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.91 57778 chr19 42858147 42858147 T - MEGF8 F1261Sfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 57779 chr7 73814702 73814702 C A rs17145468 CLIP2 Nonsynonymous SNV D926E 0.014 0.01 0.017 9 17 4 0.023 5 0 0 0 0 17.3 57780 chr19 44351815 44351815 G A rs61745999 ZNF283 Synonymous SNV K215K 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 9.592 57781 chr19 33902652 33902652 A G rs74988985 PEPD Synonymous SNV G207G 0.031 0.023 0.031 12 36 9 0.031 9 1 0 0 0 Likely benign 1.098 57782 chr7 155534653 155534653 C G rs73167165 RBM33 Synonymous SNV P730P 0.044 0.042 0.037 24 52 16 0.062 11 3 1 0 3 7.401 57783 chr18 9944924 9944924 A G rs113598754 VAPA Nonsynonymous SNV I141V 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 0.18 57784 chr19 3624140 3624140 C T rs117491710 CACTIN Nonsynonymous SNV R63Q 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 10.91 57785 chr7 156974354 156974354 G A rs17646047 UBE3C Synonymous SNV P253P 0.066 0.068 0.058 26 78 26 0.067 17 3 1 1 2 11.3 57786 chr19 36340187 36340187 G C rs34982899 NPHS1 Nonsynonymous SNV P264R 0.035 0.034 0.017 16 41 13 0.041 5 0 0 0 0 Benign 13.67 57787 chr3 37584049 37584049 G A rs17827605 ITGA9 Synonymous SNV T554T 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 13.82 57788 chr19 1233597 1233597 G A rs3746102 CBARP Synonymous SNV P269P 0.091 0.081 0.105 52 107 31 0.133 31 5 1 2 5 7.262 57789 chr7 158528254 158528254 G A rs34974906 ESYT2 Synonymous SNV L794L 0.122 0.117 0.133 25 143 45 0.064 39 6 10 3 2 6.582 57790 chr7 158528269 158528269 C G rs35914882 ESYT2 Synonymous SNV V789V 0.122 0.117 0.133 25 143 45 0.064 39 6 10 3 2 7.986 57791 chr8 2041894 2041894 G A rs35335787 MYOM2 Nonsynonymous SNV V701I 0.065 0.083 0.088 28 76 32 0.072 26 2 3 2 0 8.194 57792 chr7 77649085 77649085 C T rs117054456 MAGI2 Synonymous SNV Q1291Q 0.039 0.036 0.031 12 46 14 0.031 9 1 2 1 0 Benign 15.28 57793 chr7 158590740 158590740 A T rs13233513 ESYT2 Nonsynonymous SNV C134S 0.092 0.099 0.085 19 108 38 0.049 25 5 6 1 1 12.79 57794 chr7 158672515 158672515 G T rs150548113 WDR60 Nonsynonymous SNV E192D 0.008 0 0 0 9 0 0 0 0 0 0 0 Likely benign 0.001 57795 chr19 1010755 1010755 G A rs10401738 TMEM259 Nonsynonymous SNV S486L 0.009 0.008 0.02 4 11 3 0.01 6 0 0 1 0 9.797 57796 chr19 44223667 44223667 G C rs34051422 IRGC Synonymous SNV V319V 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 6.011 57797 chr19 35718891 35718891 C T rs35001809 FAM187B Stop gain W231X 0.02 0.026 0.031 13 23 10 0.033 9 1 0 0 0 36 57798 chr7 82583658 82583658 T C rs746211252 PCLO Nonsynonymous SNV D2204G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.37 57799 chr8 687814 687814 G T rs112628444 DLGAP2 Nonsynonymous SNV A3S 0.005 0.013 0 7 6 5 0.018 0 0 0 0 0 14.62 57800 chr19 35804236 35804236 G A rs201094395 MAG Nonsynonymous SNV R562Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Uncertain significance 18.74 57801 chr8 8185424 8185424 G C rs770486196 PRAG1 Synonymous SNV L956L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 7.149 57802 chr3 3887171 3887171 C T rs75655400 LRRN1 Synonymous SNV D282D 0.028 0.026 0.054 13 33 10 0.033 16 0 0 1 0 10.65 57803 chr8 8185889 8185889 G A rs201882445 PRAG1 Synonymous SNV D801D 0.009 0.013 0.01 2 10 5 0.005 3 0 0 0 0 10.65 57804 chr3 39139869 39139869 G A GORASP1 Nonsynonymous SNV S239F 0 0 0.007 0 0 0 0 2 0 0 0 0 16.99 57805 chr19 1482150 1482150 - C PCSK4 Frameshift insertion R626Afs*71 0.001 0 0 0 1 0 0 0 0 0 0 0 57806 chr8 8234980 8234980 G C rs35273161 PRAG1 Nonsynonymous SNV S313R 0.009 0.018 0.017 6 10 7 0.015 5 0 0 0 0 8.375 57807 chr8 27516839 27516839 C T SCARA3 Synonymous SNV S384S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 57808 chr8 8560350 8560350 C G rs778041621 CLDN23 Nonsynonymous SNV P148A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.937 57809 chr19 14877848 14877848 G A rs10418767 ADGRE2 Synonymous SNV Y143Y 0.01 0.016 0.003 9 12 6 0.023 1 2 1 0 0 0.012 57810 chr3 39230912 39230912 C T rs200072362 XIRP1 Nonsynonymous SNV A9T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.752 57811 chr19 1506031 1506031 G A rs144153954 ADAMTSL5 Nonsynonymous SNV R467W 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 26.9 57812 chr8 29102946 29102946 C G KIF13B Nonsynonymous SNV L22F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25 57813 chr19 44981862 44981862 A G rs74472964 ZNF180 Nonsynonymous SNV I254T 0.017 0.016 0.017 6 20 6 0.015 5 0 0 0 0 0.164 57814 chr3 39543648 39543648 T C rs147204877 MOBP Nonsynonymous SNV F30L 0 0 0.007 0 0 0 0 2 0 0 0 0 28.4 57815 chr3 40523409 40523409 T G rs9852518 ZNF619 Nonsynonymous SNV V27G 0.017 0.016 0.02 5 20 6 0.013 6 0 0 0 0 25.5 57816 chr3 40528547 40528547 G A rs61733800 ZNF619 Synonymous SNV L138L 0.009 0.008 0.014 6 10 3 0.015 4 0 0 0 0 9.635 57817 chr19 10657871 10657871 C T rs138606386 ATG4D Synonymous SNV A196A 0.008 0.021 0.031 3 9 8 0.008 9 0 0 0 0 Benign 17.8 57818 chr19 4508905 4508905 C T rs77763884 PLIN4 Nonsynonymous SNV V1193I 0.014 0.01 0.024 6 16 4 0.015 7 0 0 0 0 19.64 57819 chr19 15484638 15484638 G A rs375090323 AKAP8 Synonymous SNV G110G 0.003 0 0 0 4 0 0 0 0 0 0 0 14.99 57820 chr19 37005298 37005298 A G rs76808668 ZNF260 Synonymous SNV C281C 0.074 0.091 0.051 25 87 35 0.064 15 6 0 0 2 1.473 57821 chr19 15636350 15636350 T C rs774374262 CYP4F22 Nonsynonymous SNV L68P 0.003 0 0 0 4 0 0 0 0 0 0 0 28.4 57822 chr8 9564485 9564485 G A rs33944167 TNKS Synonymous SNV P478P 0.061 0.063 0.037 24 72 24 0.062 11 0 1 0 1 14.05 57823 chr8 9567700 9567700 C A rs35052906 TNKS Synonymous SNV V573V 0.064 0.065 0.048 31 75 25 0.079 14 0 1 0 2 16.98 57824 chr19 37310223 37310223 C G ZNF790 Nonsynonymous SNV K341N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.13 57825 chr19 4511646 4511646 A C rs75876308 PLIN4 Nonsynonymous SNV L776V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 57826 chr7 94540416 94540416 A G rs10230714 PPP1R9A Nonsynonymous SNV M331V 0.037 0.029 0.048 8 44 11 0.021 14 4 0 1 0 0.001 57827 chr3 42916001 42916001 G T rs138292874 CYP8B1 Synonymous SNV G436G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 7.079 57828 chr3 42916283 42916283 G T rs150329640 CYP8B1 Nonsynonymous SNV S342R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.1 57829 chr3 42916411 42916411 T A CYP8B1 Stop gain K300X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 57830 chr19 37441546 37441546 G A rs140144622 ZNF568 Synonymous SNV T433T 0.034 0.039 0.02 11 40 15 0.028 6 0 0 0 0 11.31 57831 chr7 97821139 97821139 G A rs750890663 LMTK2 Synonymous SNV R454R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 10.49 57832 chr8 37791895 37791895 G A rs369494599 GOT1L1 Synonymous SNV G394G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.475 57833 chr8 37791988 37791988 G A rs115857959 GOT1L1 Synonymous SNV Y363Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.499 57834 chr8 37792665 37792665 T C rs28379463 GOT1L1 Nonsynonymous SNV Q333R 0.002 0.003 0.01 0 2 1 0 3 0 0 1 0 10.59 57835 chr8 12956995 12956995 G A rs147130694 DLC1 Nonsynonymous SNV H440Y 0 0.003 0 3 0 1 0.008 0 0 0 0 0 17.42 57836 chr8 38194987 38195092 TACAGGAAAGGGTCAAAAAACTTCATCAGAAATTCAAAAAAAGAAACTATGTATAAAGTACATTAAAAATGCTAACAATGTAATTTTATCTTCAGTTATACTTTGA - NSD3 0.002 0.003 0 0 2 1 0 0 0 0 0 0 57837 chr8 38272342 38272342 G A rs756586457 FGFR1 Synonymous SNV L555L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.81 57838 chr7 99032529 99032529 G A rs35556439 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R113W 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 23.6 57839 chr19 45021210 45021210 G A rs10414398 CEACAM20 Nonsynonymous SNV S369F 0.076 0.089 0.139 23 89 34 0.059 41 3 3 6 0 8.072 57840 chr7 99161485 99161485 G A rs62619783 ZNF655 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 15.5 57841 chr19 45682698 45682698 C A rs182286598 BLOC1S3 Synonymous SNV R48R 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Benign 22 57842 chr19 45728059 45728059 T C rs10411314 EXOC3L2 Nonsynonymous SNV N173D 0.028 0.031 0.034 20 33 12 0.051 10 0 0 0 2 1.531 57843 chr19 45728123 45728123 C T rs10410003 EXOC3L2 Synonymous SNV P151P 0.028 0.029 0.034 20 33 11 0.051 10 0 0 0 2 13.09 57844 chr19 12186971 12186975 TTATC - rs372628445 ZNF844 Stop gain Y348* 0.023 0.013 0.027 17 27 5 0.044 8 0 0 1 2 57845 chr8 16012648 16012648 G C rs2229388 MSR1 Nonsynonymous SNV P293A 0.066 0.063 0.078 29 78 24 0.074 23 4 0 0 0 25.9 57846 chr8 10755686 10755686 T C rs559409974 XKR6 Nonsynonymous SNV M568V 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 2.398 57847 chr8 16043686 16043686 G C rs76917531 MSR1 Nonsynonymous SNV S11C 0.049 0.044 0.058 27 58 17 0.069 17 0 0 0 0 5.075 57848 chr19 37619567 37619567 A T rs61745776 ZNF420 Synonymous SNV P558P 0.024 0.018 0.01 5 28 7 0.013 3 2 0 0 0 0.036 57849 chr3 44673652 44673652 A G ZNF197, ZNF660-ZNF197 Synonymous SNV Q202Q 0 0 0.007 0 0 0 0 2 0 0 0 0 6.378 57850 chr3 44762905 44762905 T C rs146073542 ZNF502 Nonsynonymous SNV V199A 0 0.003 0.02 0 0 1 0 6 0 0 0 0 0.754 57851 chr19 12774196 12774196 G A rs45576136 MAN2B1 Nonsynonymous SNV P282S 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 57852 chr19 46124564 46124564 G A rs146103183 EML2 Synonymous SNV R225R 0.012 0.023 0.02 7 14 9 0.018 6 0 0 0 0 3.936 57853 chr19 4511540 4511737 TTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGTCTGGACAGTCCCTTTGGCCAACTTCACAGCCCCTGTGAGCCCAGTGGACACAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCCTTGGATGGCCCCT - PLIN4 I748_A813del 0.02 0.026 0.272 4 24 10 0.01 80 0 0 0 0 57854 chr8 17491590 17491590 T G rs368609460 PDGFRL Nonsynonymous SNV S269R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.007 57855 chr19 12917520 12917520 A G rs11554400 RNASEH2A Synonymous SNV T11T 0.022 0.039 0.031 6 26 15 0.015 9 2 0 0 0 Benign 3.756 57856 chr19 12920935 12920935 G A rs7257575 RNASEH2A Synonymous SNV Q154Q 0.022 0.039 0.031 6 26 15 0.015 9 2 0 0 0 Benign 8.04 57857 chr19 12921186 12921186 T C rs7247284 RNASEH2A Nonsynonymous SNV L202S 0.022 0.039 0.031 6 26 15 0.015 9 2 0 0 0 Benign 0.198 57858 chr19 17104379 17104379 G A rs75991134 CPAMD8 Synonymous SNV P371P 0.058 0.057 0.054 18 68 22 0.046 16 2 1 2 0 7.143 57859 chr19 12924157 12924157 C T rs76634951 RNASEH2A Synonymous SNV S259S 0.014 0.016 0.007 4 16 6 0.01 2 1 0 0 0 Benign 10.97 57860 chr7 100483913 100483913 C T rs372466447 SRRT Nonsynonymous SNV R501W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 29.8 57861 chr19 39398092 39398092 C T rs375163007 NFKBIB Synonymous SNV A168A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 57862 chr8 53569680 53569680 C T rs62499947 RB1CC1 Synonymous SNV E903E 0.02 0.026 0.007 8 23 10 0.021 2 0 0 0 0 0.862 57863 chr19 46271177 46271177 G T rs3745802 DM1-AS 0.079 0.102 0.085 39 93 39 0.1 25 42 18 11 15 8.556 57864 chr8 17731611 17731611 T A rs35431851 FGL1 Nonsynonymous SNV Y140F 0.026 0.034 0.02 12 30 13 0.031 6 0 0 0 0 31 57865 chr19 17111272 17111272 T C rs61740405 CPAMD8 Synonymous SNV V273V 0.018 0.01 0.02 5 21 4 0.013 6 0 0 0 0 0.345 57866 chr19 12984240 12984240 T C rs148457369 MAST1 Synonymous SNV D1122D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.733 57867 chr19 46299138 46299138 - CTCCTCGCCCTCCTCCTC rs3217398 RSPH6A E714_T715insEEEGEE 0.108 0.099 0.003 37 127 38 0.095 1 4 3 0 1 57868 chr19 39873858 39873858 T G rs140996761 SAMD4B Synonymous SNV V661V 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 4.927 57869 chr19 46330809 46330809 G A rs35490979 SYMPK Synonymous SNV L714L 0.041 0.039 0.051 13 48 15 0.033 15 0 0 0 1 13.1 57870 chr19 45179567 45179567 C T rs78626419 CEACAM19 Nonsynonymous SNV T150I 0.034 0.034 0.027 12 40 13 0.031 8 0 1 0 0 11.67 57871 chr8 55540141 55540141 C T rs114557304 RP1 Synonymous SNV S1233S 0.027 0.023 0.02 6 32 9 0.015 6 0 1 0 0 Benign 5.148 57872 chr8 55541226 55541226 G A rs35084330 RP1 Nonsynonymous SNV R1595Q 0.027 0.023 0.02 6 32 9 0.015 6 0 1 0 0 Benign 23.6 57873 chr19 13318217 13318217 G A rs16059 CACNA1A Synonymous SNV Y2477Y 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 Benign 4.503 57874 chr19 46387792 46387792 G C rs60158447 IRF2BP1 Nonsynonymous SNV A414G 0.01 0.01 0.02 2 12 4 0.005 6 0 0 0 0 0.085 57875 chr8 13357502 13357502 G A rs34575560 DLC1 Nonsynonymous SNV R27C 0.037 0.031 0.044 17 43 12 0.044 13 1 1 1 1 12.63 57876 chr19 45389449 45389449 T C rs182813625 NECTIN2 Synonymous SNV F440F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.866 57877 chr8 56708701 56708701 T C rs10100659 TGS1 Nonsynonymous SNV I418T 0.106 0.096 0.095 48 124 37 0.123 28 4 0 0 0 5.763 57878 chr8 56711713 56711713 A G rs10109493 TGS1 Nonsynonymous SNV T502A 0.106 0.102 0.099 47 124 39 0.121 29 4 0 0 0 0.001 57879 chr8 56723557 56723557 T G rs7823773 TGS1 Nonsynonymous SNV F661C 0.106 0.099 0.099 48 124 38 0.123 29 4 0 0 0 9.659 57880 chr8 18080391 18080391 C T NAT1 Nonsynonymous SNV L279F 0.003 0 0 5 3 0 0.013 0 0 0 0 0 5.276 57881 chr3 46492150 46492150 G A rs139100229 LTF Synonymous SNV D195D 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 2.331 57882 chr19 13936385 13936385 C T rs62620757 ZSWIM4 Nonsynonymous SNV T629M 0.104 0.091 0.088 42 122 35 0.108 26 3 2 1 1 22.9 57883 chr19 13941597 13941597 C T rs112676900 ZSWIM4 Synonymous SNV A901A 0.092 0.065 0.088 29 108 25 0.074 26 5 2 1 1 10.7 57884 chr19 1397399 1397399 C T rs141471799 GAMT Nonsynonymous SNV A224T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 57885 chr19 46974003 46974003 C T rs7248888 PNMA8A Nonsynonymous SNV C97Y 0.052 0.055 0.085 29 61 21 0.074 25 1 1 1 2 23.4 57886 chr19 45682893 45682893 G A rs546645333 BLOC1S3 Synonymous SNV L113L 0.013 0.005 0.007 2 15 2 0.005 2 0 0 0 0 Benign 7.159 57887 chr3 46852678 46852678 A - rs201186489 PRSS44P 0 0 0.044 0 0 0 0 13 0 0 1 0 57888 chr19 14045039 14045066 CCCGGGGTGGGACCTACAGCAGGGCTAC - rs768597065 PODNL1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 57889 chr19 38877410 38877410 A G rs776859130 GGN Synonymous SNV F164F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.088 57890 chr19 14077267 14077267 G C rs144971619 RFX1 Nonsynonymous SNV L643V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.19 57891 chr19 45867014 45867014 G A rs974354644 ERCC2 Nonsynonymous SNV R345C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 34 57892 chr19 47424071 47424071 T C rs2228163 ARHGAP35 Synonymous SNV T713T 0.031 0.049 0.027 10 36 19 0.026 8 1 1 0 0 0.049 57893 chr19 38910816 38910816 C T rs777144681 RASGRP4 Nonsynonymous SNV R155Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.8 57894 chr19 38976294 38976294 C T rs144157950 RYR1 Nonsynonymous SNV R1667C 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 57895 chr19 47858489 47858489 C G rs34802163 DHX34 Nonsynonymous SNV P300R 0.03 0.023 0.048 14 35 9 0.036 14 0 0 0 0 23.3 57896 chr19 41029399 41029399 C A rs148009574 SPTBN4 Nonsynonymous SNV A1237D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.1 57897 chr19 4117528 4117528 G A rs8157 MAP2K2 Synonymous SNV V64V 0.041 0.057 0.051 17 48 22 0.044 15 1 0 0 0 Benign 14.19 57898 chr19 39401254 39401254 G T CCER2 Nonsynonymous SNV H220Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.79 57899 chr19 46457160 46457160 A G rs142009312 NOVA2 Synonymous SNV L92L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 4.379 57900 chr19 48253524 48253524 A G rs538970171 NOP53 Nonsynonymous SNV K127E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.08 57901 chr8 22421999 22421999 G A SORBS3 Nonsynonymous SNV D261N 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 25.1 57902 chr3 49169782 49169782 G A rs79448908 LAMB2 Synonymous SNV N102N 0.044 0.034 0.037 25 52 13 0.064 11 3 0 1 0 Benign/Likely benign 7.691 57903 chr19 3981412 3981412 T C EEF2 Synonymous SNV T312T 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 2.058 57904 chr19 18085918 18085918 C T rs376230668 KCNN1 Synonymous SNV F140F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 17.4 57905 chr19 46914921 46914921 G A rs34186470 CCDC8 Nonsynonymous SNV H383Y 0.107 0.107 0.048 28 126 41 0.072 14 5 3 2 2 15.79 57906 chr3 49548030 49548030 G C rs776146096 DAG1 Synonymous SNV L21L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.489 57907 chr3 49694041 49694041 G A rs147218044 BSN Nonsynonymous SNV R2351Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 57908 chr8 21883209 21883209 C A NPM2 Nonsynonymous SNV P66T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 8.162 57909 chr19 47425424 47425424 G T rs147079247 ARHGAP35 Synonymous SNV R1164R 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Benign 2.484 57910 chr19 47700611 47700611 C T rs11083864 SAE1 Synonymous SNV D285D 0.02 0.018 0.027 5 24 7 0.013 8 1 0 0 0 16.3 57911 chr19 47735818 47735818 C T rs139316960 BBC3 Synonymous SNV Q14Q 0.009 0.003 0.014 1 11 1 0.003 4 0 0 0 0 2.872 57912 chr19 47767922 47767922 C T rs771763612 CCDC9 Synonymous SNV A175A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.94 57913 chr3 49940566 49940566 C T rs201186157 MST1R Synonymous SNV A159A 0 0 0.007 0 0 0 0 2 0 0 0 0 16.01 57914 chr19 48790007 48790007 T C ZNF114 Nonsynonymous SNV Y376H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 13.75 57915 chr19 47920155 47920155 C T rs150969429 MEIS3 Nonsynonymous SNV R84H 0.004 0.01 0 9 5 4 0.023 0 1 0 0 0 26.8 57916 chr19 47935653 47935653 C T rs149881406 SLC8A2 Synonymous SNV S720S 0.014 0.013 0.007 8 17 5 0.021 2 1 0 0 0 19.85 57917 chr3 50289853 50289853 C T rs762707 GNAI2 Synonymous SNV S25S 0.055 0.047 0.048 30 65 18 0.077 14 2 0 0 1 17.19 57918 chr3 50329715 50329715 C A rs199593825 IFRD2 Synonymous SNV P61P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 17.76 57919 chr19 48946405 48946405 A G rs112893228 GRIN2D Synonymous SNV P1074P 0.041 0.063 0.265 22 48 24 0.056 78 23 12 38 11 0.002 57920 chr8 23174481 23174481 G A rs7357444 LOXL2 Synonymous SNV A539A 0.009 0.008 0.01 6 11 3 0.015 3 0 0 0 0 12.2 57921 chr8 23198661 23198661 C T rs747347225 LOXL2 Nonsynonymous SNV R196H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.7 57922 chr8 23225708 23225708 C A rs138503568 LOXL2 Nonsynonymous SNV V53L 0.009 0.005 0.01 6 10 2 0.015 3 0 0 0 0 Benign 10.23 57923 chr19 48305357 48305357 G A rs77144450 TPRX1 Nonsynonymous SNV P304L 0.04 0.034 0.017 13 47 13 0.033 5 1 1 1 1 23.7 57924 chr3 52015019 52015019 T G rs752801678 ABHD14A Synonymous SNV L267L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.185 57925 chr19 48305674 48305674 T C rs78381908 TPRX1 Synonymous SNV P198P 0.052 0.052 0.031 19 61 20 0.049 9 4 2 1 1 0.012 57926 chr8 94747496 94747496 A C rs111589624 RBM12B Nonsynonymous SNV D381E 0.029 0.036 0.037 10 34 14 0.026 11 0 1 0 0 0.001 57927 chr3 52256453 52256453 G A rs140145383 TLR9 Synonymous SNV L627L 0.003 0 0.007 0 4 0 0 2 0 0 0 0 2.166 57928 chr8 23049327 23049327 - A TNFRSF10A Frameshift insertion D430Gfs*53 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 57929 chr8 26366181 26366181 C T PNMA2 Nonsynonymous SNV E31K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.013 57930 chr19 18779863 18779863 C T rs747100013 KLHL26 Synonymous SNV A581A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.87 57931 chr8 23290451 23290451 C T rs17089244 ENTPD4 Synonymous SNV P605P 0.048 0.065 0.068 34 56 25 0.087 20 2 2 0 1 11.32 57932 chr8 27094399 27094399 C T rs73239446 STMN4 Synonymous SNV R178R 0.02 0.018 0.014 8 23 7 0.021 4 0 0 0 0 Benign 10.95 57933 chr8 23292985 23292985 A G rs3736652 ENTPD4 Synonymous SNV Y452Y 0.049 0.065 0.068 33 57 25 0.085 20 2 2 0 1 4.671 57934 chr19 48608598 48608598 C G rs2307279 PLA2G4C Nonsynonymous SNV A48P 0.064 0.076 0.075 28 75 29 0.072 22 0 1 2 2 17.22 57935 chr19 19032729 19032729 C T DDX49 Synonymous SNV L135L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.15 57936 chr19 4432011 4432011 G A rs11556317 CHAF1A Synonymous SNV E670E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.372 57937 chr8 98817630 98817630 C T rs144980954 LAPTM4B Nonsynonymous SNV P50L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 25.1 57938 chr19 16625375 16625377 GCA - C19orf44 Q571del 0 0 0 1 0 0 0.003 0 0 0 0 0 57939 chr8 24349395 24349395 C G rs12542421 LOC101929315 0.089 0.112 0.102 22 105 43 0.056 30 4 2 2 1 4.809 57940 chr8 24350715 24350715 G A rs12547971 ADAM7 Synonymous SNV A605A 0.089 0.112 0.102 22 105 43 0.056 30 4 2 2 1 5.452 57941 chr19 41932310 41932310 C T rs201750978 B3GNT8 Nonsynonymous SNV R125Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 33 57942 chr19 16855411 16855411 - G rs535227776 NWD1 Frameshift insertion E128Gfs*4 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 57943 chr8 27779296 27779296 G A rs61737296 SCARA5 Synonymous SNV Y236Y 0.016 0.026 0.017 10 19 10 0.026 5 1 0 0 0 0.352 57944 chr19 49671815 49671815 G A rs142788545 TRPM4 Synonymous SNV S91S 0.004 0.01 0.007 2 5 4 0.005 2 0 1 0 0 Benign/Likely benign 10.34 57945 chr19 16977261 16977261 C T rs753502048 SIN3B Nonsynonymous SNV A157V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 57946 chr8 104336788 104336788 C G rs61753730 FZD6 Nonsynonymous SNV Q152E 0.02 0.013 0.014 5 24 5 0.013 4 0 0 0 0 0.313 57947 chr3 53911679 53911681 CTC - ACTR8 G168del 0 0 0.003 0 0 0 0 1 0 0 0 0 57948 chr19 49445794 49445794 C T rs144807999 DHDH Synonymous SNV S239S 0.018 0.01 0.014 4 21 4 0.01 4 1 0 0 0 12.61 57949 chr8 30502975 30502975 T C rs188901748 SMIM18 Nonsynonymous SNV V50A 0.014 0.008 0.003 5 16 3 0.013 1 0 0 0 0 22.5 57950 chr8 27633945 27633945 T G ESCO2 Nonsynonymous SNV S40R 0.003 0.01 0 3 3 4 0.008 0 0 0 0 0 7.654 57951 chr3 56653467 56653467 T C rs138121210 CCDC66 Synonymous SNV Y816Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.202 57952 chr19 42931022 42931022 C T rs145456377 LIPE Nonsynonymous SNV A94T 0.006 0.01 0.007 5 7 4 0.013 2 0 0 0 0 Likely benign 19.72 57953 chr3 57135309 57135309 C T rs572268742 IL17RD Synonymous SNV P354P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 57954 chr19 50139932 50139932 C T rs61760904 RRAS Nonsynonymous SNV D133N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 24 57955 chr3 57542456 57542456 T C rs143228955 PDE12 Nonsynonymous SNV V117A 0.01 0.01 0.027 1 12 4 0.003 8 0 0 1 0 0.001 57956 chr8 110492352 110492352 C T rs117952538 PKHD1L1 Nonsynonymous SNV T3104I 0.017 0.016 0.017 8 20 6 0.021 5 0 0 0 0 32 57957 chr8 36703323 36703323 C G rs61752585 KCNU1 Synonymous SNV A599A 0.009 0.016 0.01 3 11 6 0.008 3 0 0 0 0 11.68 57958 chr19 50193163 50193163 A G rs201107314 ADM5 Synonymous SNV A23A 0.014 0.013 0.007 6 17 5 0.015 2 0 0 0 0 1.45 57959 chr3 62358185 62358185 A C rs537807713 FEZF2 Nonsynonymous SNV V120G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.5 57960 chr3 66430870 66430870 G A rs61754218 LRIG1 Synonymous SNV S1033S 0.079 0.057 0.058 32 93 22 0.082 17 1 1 0 3 6.577 57961 chr19 4493990 4493990 C T rs200731789 HDGFL2 Nonsynonymous SNV L284F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 57962 chr19 2444514 2444514 C T LMNB2 Nonsynonymous SNV E97K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 57963 chr19 50435998 50435998 C T rs34877198 ATF5 Synonymous SNV C166C 0.096 0.102 0.082 47 113 39 0.121 24 4 1 1 3 5.552 57964 chr19 50475872 50475872 A G rs78102241 SIGLEC16 Nonsynonymous SNV M428V 0.026 0.049 0.02 8 30 19 0.021 6 0 1 0 0 1.569 57965 chr8 37794902 37794902 G C rs61735752 GOT1L1 Nonsynonymous SNV L138V 0.043 0.057 0.054 8 51 22 0.021 16 0 0 0 0 2.771 57966 chr7 100683053 100683053 A G rs200821451 MUC17 Nonsynonymous SNV T2786A 0.03 0.034 0.034 12 35 13 0.031 10 0 0 0 0 0.002 57967 chr19 2939289 2939289 A C rs12608916 ZNF77 Synonymous SNV L40L 0.017 0.013 0.034 5 20 5 0.013 10 0 0 1 0 Likely benign 0.012 57968 chr3 73437185 73437185 A G rs61732653 PDZRN3 Synonymous SNV A182A 0.016 0.018 0.024 9 19 7 0.023 7 0 0 1 0 Benign 5.779 57969 chr19 2939396 2939396 T C rs12609268 ZNF77 Nonsynonymous SNV I5V 0.1 0.096 0.102 44 117 37 0.113 30 4 3 2 2 0.002 57970 chr19 2939401 2939401 C G rs12610412 ZNF77 Nonsynonymous SNV C3S 0.1 0.096 0.099 44 117 37 0.113 29 4 3 2 2 0.001 57971 chr8 48352954 48352954 T A rs201125764 SPIDR Nonsynonymous SNV M74K 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 Likely benign 13.13 57972 chr8 48878772 48878772 C T rs17334388 MCM4 Synonymous SNV S286S 0.013 0.005 0.01 5 15 2 0.013 3 0 0 0 0 Benign 17.87 57973 chr8 48882392 48882392 A G rs17287656 MCM4 Synonymous SNV P403P 0.013 0.005 0.01 5 15 2 0.013 3 0 0 0 0 Benign 2.71 57974 chr8 52232544 52232544 C T rs571386178 PXDNL Synonymous SNV P1433P 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 11.69 57975 chr19 51159502 51159502 G C rs117025012 C19orf81 Nonsynonymous SNV V54L 0.04 0.034 0.027 12 47 13 0.031 8 0 0 0 0 21.7 57976 chr19 51165918 51165918 G A rs139140465 SHANK1 Synonymous SNV S1930S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Likely benign 5.225 57977 chr8 41812900 41812900 T C rs200828764 KAT6A Synonymous SNV P504P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.183 57978 chr19 3198841 3198841 G C rs11671067 NCLN Nonsynonymous SNV E214D 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 17.44 57979 chr8 55540031 55540031 A G rs201446128 RP1 Nonsynonymous SNV S1197G 0.011 0.013 0.003 2 13 5 0.005 1 0 0 0 0 Uncertain significance 14.42 57980 chr3 97593540 97593540 G A rs190589534 CRYBG3 Nonsynonymous SNV G1168S 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 0.002 57981 chr7 102574715 102574715 A G rs3800939 LRRC17 Nonsynonymous SNV K119E 0.052 0.06 0.024 25 61 23 0.064 7 2 0 0 1 20.8 57982 chr8 42911592 42911592 C T rs752144653 FNTA Nonsynonymous SNV H35Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.654 57983 chr3 97595078 97595078 C A rs184877908 CRYBG3 Synonymous SNV G1680G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 57984 chr19 51361775 51361775 C T rs554107787 KLK3 Nonsynonymous SNV A185V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.913 57985 chr3 97618089 97618089 G A rs831894 CRYBG3 Synonymous SNV S2651S 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 7.718 57986 chr7 102665620 102665620 C G rs61749912 FBXL13 Nonsynonymous SNV A129P 0.049 0.055 0.024 26 57 21 0.067 7 2 0 0 2 0.004 57987 chr8 49832952 49832952 G A rs757995996 SNAI2 Nonsynonymous SNV P43L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.6 57988 chr3 97680493 97680493 C A rs112696353 RIOX2 Synonymous SNV S164S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 57989 chr7 102715804 102715804 C T rs7798381 ARMC10 Nonsynonymous SNV R29W 0.043 0.055 0.02 26 50 21 0.067 6 3 0 0 2 25.3 57990 chr19 50464076 50464076 C T rs149081611 SIGLEC11 Nonsynonymous SNV E65K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.458 57991 chr19 17999239 17999239 C T rs45602038 SLC5A5 Synonymous SNV C542C 0.044 0.049 0.054 15 52 19 0.038 16 3 0 1 0 Uncertain significance 10.85 57992 chr8 61178567 61178567 G A rs61743130 CA8 Synonymous SNV L112L 0.014 0.003 0.02 4 16 1 0.01 6 0 0 0 0 Benign 11.13 57993 chr3 97887957 97887957 T C rs143003334 OR5H15 Synonymous SNV N138N 0.012 0.01 0.003 4 14 4 0.01 1 0 0 0 0 0.011 57994 chr7 102993350 102993350 C T SLC26A5 Nonsynonymous SNV R332K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.99 57995 chr19 50550013 50550013 A G rs139532569 ZNF473 Synonymous SNV S759S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.665 57996 chr8 61769195 61769195 A G rs2272727 CHD7 Synonymous SNV T2452T 0.051 0.044 0.071 16 60 17 0.041 21 1 0 0 0 Benign/Likely benign 3.744 57997 chr7 105739674 105739674 T A rs147668753 SYPL1 Nonsynonymous SNV I42F 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 18.46 57998 chr3 98188798 98188798 A C rs112214721 OR5K1 Synonymous SNV I126I 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 0.016 57999 chr8 133981760 133981760 T C rs56230101 TG Nonsynonymous SNV M1974T 0.076 0.065 0.129 29 89 25 0.074 38 3 1 1 1 Benign/Likely benign 0.002 58000 chr19 45213778 45213778 A G rs146757817 CEACAM16 Synonymous SNV X426X 0.026 0.021 0.024 6 30 8 0.015 7 1 0 0 0 Benign 1.658 58001 chr7 106791447 106791447 G A rs3729878 PRKAR2B Synonymous SNV L274L 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 13.01 58002 chr7 107204371 107204371 C T rs73419464 COG5 Nonsynonymous SNV A22T 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Benign 24.1 58003 chr3 9950932 9950932 G A rs143031647 IL17RE Nonsynonymous SNV R140H 0.022 0.016 0.037 9 26 6 0.023 11 0 0 0 0 13.44 58004 chr7 107342294 107342294 T G rs17154335 SLC26A4 Nonsynonymous SNV V609G 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Benign/Likely benign 18.12 58005 chr7 107542820 107542820 T C rs2228664 DLD Synonymous SNV V83V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 9.534 58006 chr7 107556043 107556043 A G rs1065762 DLD Synonymous SNV K160K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 0.608 58007 chr7 107572775 107572775 G A rs76420489 LAMB1 Synonymous SNV G1412G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 15.34 58008 chr3 9965636 9965636 C A rs146883038 IL17RC Nonsynonymous SNV H192N 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.083 58009 chr19 33439187 33439187 G A rs3764633 CEP89 Nonsynonymous SNV R194W 0.039 0.068 0.19 24 46 26 0.062 56 8 5 5 6 10.12 58010 chr7 107601751 107601751 A G rs20555 LAMB1 Nonsynonymous SNV V670A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 26.2 58011 chr19 50967667 50967667 A G MYBPC2 Nonsynonymous SNV N1098S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.842 58012 chr7 107616188 107616188 G A rs28750165 LAMB1 Nonsynonymous SNV P379S 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign 28.4 58013 chr3 9988144 9988144 C G rs1006339133 PRRT3 Nonsynonymous SNV D905H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 58014 chr19 45731515 45731515 G T rs75426681 EXOC3L2 Synonymous SNV R34R 0.028 0.01 0.02 7 33 4 0.018 6 0 0 0 0 0.653 58015 chr19 4501243 4501243 G C rs201841861 HDGFL2 Nonsynonymous SNV K610N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.4 58016 chr7 107710240 107710240 C G LAMB4 Nonsynonymous SNV A739P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.7 58017 chr19 33792731 33792731 - GCGGGT rs762459325 CEBPA P77_P78insHP 0.016 0.031 0.014 7 19 12 0.018 4 1 0 0 1 58018 chr8 70501317 70501317 C T rs77728226 SULF1 Synonymous SNV H225H 0.011 0.016 0.034 9 13 6 0.023 10 0 0 0 0 Benign 10.94 58019 chr4 100010010 100010010 C T rs1154400 LOC100507053 0.203 0.216 0.126 105 238 83 0.269 37 106 39 18 43 8.798 58020 chr19 34991078 34991078 T C rs775451380 WTIP Synonymous SNV Y399Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 58021 chr8 63973945 63973945 G C TTPA Nonsynonymous SNV Q235E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.05 58022 chr19 35435001 35435001 C T rs78688282 ZNF30 Synonymous SNV C378C 0.036 0.036 0.048 14 42 14 0.036 14 0 0 0 0 12.42 58023 chr19 51986451 51986451 G A rs185908180 CEACAM18 Nonsynonymous SNV S285N 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 0.069 58024 chr19 52000151 52000151 T A rs61743147 SIGLEC12 Nonsynonymous SNV R410W 0.038 0.049 0.065 19 45 19 0.049 19 1 1 1 1 23.6 58025 chr7 112112892 112112892 G A rs11542468 IFRD1 Synonymous SNV T364T 0.1 0.094 0.105 30 117 36 0.077 31 5 0 2 2 16.4 58026 chr19 1848243 1848243 A G rs12984809 REXO1 Nonsynonymous SNV S39P 0.119 0.078 0.156 68 140 30 0.174 46 69 15 23 32 12 58027 chr19 46262206 46262206 C T rs186063381 BHMG1 Synonymous SNV L361L 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 9.763 58028 chr8 143425354 143425354 C T rs79460462 TSNARE1 Nonsynonymous SNV E240K 0.016 0.023 0.034 4 19 9 0.01 10 0 0 0 0 15.14 58029 chr19 51501016 51501016 G A rs769185260 KLK8 Synonymous SNV D65D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.279 58030 chr8 143425406 143425406 C T rs80309837 TSNARE1 Synonymous SNV T222T 0.016 0.023 0.034 4 19 9 0.01 10 0 0 0 0 10.72 58031 chr19 19038842 19038842 G C rs45538835 DDX49 Synonymous SNV G420G 0.014 0.01 0.017 12 16 4 0.031 5 0 0 0 0 7.523 58032 chr19 46394187 46394187 C T rs62111265 MYPOP Synonymous SNV L298L 0.054 0.068 0.105 26 63 26 0.067 31 9 3 4 2 11.96 58033 chr7 117024820 117024820 T G rs1029396 ASZ1 Nonsynonymous SNV K8T 0.05 0.036 0.051 12 59 14 0.031 15 1 1 0 0 22.5 58034 chr19 46394322 46394322 G A rs114387602 MYPOP Synonymous SNV L253L 0.022 0.016 0.037 16 26 6 0.041 11 6 2 2 5 0.284 58035 chr19 19380516 19380516 A G rs202188864 TM6SF2 Nonsynonymous SNV F155S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 27.3 58036 chr19 5222831 5222831 G A rs2230610 PTPRS Nonsynonymous SNV A969V 0.011 0.016 0 1 13 6 0.003 0 1 0 0 0 18.55 58037 chr19 3600198 3600198 C T rs5748 TBXA2R Synonymous SNV S145S 0.066 0.052 0.054 28 78 20 0.072 16 2 0 0 1 Benign 14.66 58038 chr8 79598772 79598772 C T rs150032736 ZC2HC1A Nonsynonymous SNV A94V 0.001 0 0 7 1 0 0.018 0 0 0 0 0 32 58039 chr19 51841364 51841364 G A rs201452734 VSIG10L Nonsynonymous SNV R610W 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 26.3 58040 chr8 81399180 81399180 A G rs150539196 ZBTB10 Synonymous SNV R45R 0.027 0.042 0.017 11 32 16 0.028 5 1 0 0 0 0.033 58041 chr19 19737915 19737915 T C rs750878148 LPAR2 Nonsynonymous SNV N60S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.3 58042 chr19 51843858 51843858 C A rs543197299 VSIG10L Stop gain G340X 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 35 58043 chr19 52468292 52468292 A G rs4986771 ZNF350 Nonsynonymous SNV S472P 0.042 0.039 0.044 17 49 15 0.044 13 1 1 0 0 6.288 58044 chr19 52468551 52468551 T G rs4986772 ZNF350 Synonymous SNV T385T 0.042 0.039 0.044 17 49 15 0.044 13 1 1 0 0 0.26 58045 chr7 123302102 123302102 T C rs61999290 LMOD2 Synonymous SNV D154D 0.014 0.003 0.014 2 17 1 0.005 4 0 0 0 0 0.032 58046 chr19 51958713 51958713 T C rs769030556 SIGLEC8 Nonsynonymous SNV Q244R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.648 58047 chr19 3620786 3620786 C T rs139224809 CACTIN Synonymous SNV K219K 0.005 0 0 1 6 0 0.003 0 0 0 0 0 13.54 58048 chr19 36211418 36211418 T C rs191195577 KMT2B Nonsynonymous SNV M390T 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 0.002 58049 chr8 91953100 91953100 T G NECAB1 Nonsynonymous SNV S278R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 58050 chr19 46148586 46148586 G A rs748017783 EML2 Synonymous SNV R39R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 15.31 58051 chr4 110791416 110791416 G A rs761583843 LRIT3 Stop gain W504X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 38 58052 chr8 144658630 144658630 G A rs35975875 NAPRT Nonsynonymous SNV R104C 0.009 0.003 0.003 7 10 1 0.018 1 0 0 0 0 33 58053 chr7 128582309 128582309 C T rs191243474 IRF5 Synonymous SNV D58D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.88 58054 chr8 95384436 95384436 T C rs150017319 RAD54B Nonsynonymous SNV I715V 0.002 0 0 9 2 0 0.023 0 0 0 0 0 1.579 58055 chr19 4652362 4652362 G A rs149894858 TNFAIP8L1 Nonsynonymous SNV G161S 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 12.15 58056 chr7 128852242 128852242 C T rs140172891 SMO Nonsynonymous SNV R772C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 not provided 34 58057 chr19 5210762 5210762 G A rs1143699 PTPRS Synonymous SNV D1316D 0.071 0.086 0.095 30 83 33 0.077 28 1 2 2 0 1.968 58058 chr19 2291501 2291501 T A rs201142184 LINGO3 Nonsynonymous SNV H92L 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 11.72 58059 chr19 47164271 47164271 C G DACT3 Synonymous SNV R17R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.37 58060 chr4 119200274 119200274 C T rs658642 SNHG8 0 0 0.452 0 0 0 0 133 0 0 30 0 10.1 58061 chr19 48537513 48537513 C T rs3745747 CABP5 Nonsynonymous SNV R152Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 58062 chr19 37238758 37238758 C T rs145117923 ZNF850 Nonsynonymous SNV E1030K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.7 58063 chr19 37239188 37239188 G A rs139002175 ZNF850 Synonymous SNV I886I 0.014 0.023 0.007 8 17 9 0.021 2 0 0 0 0 8.569 58064 chr19 53345143 53345143 C T rs61729957 ZNF468 Nonsynonymous SNV R135H 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 0.036 58065 chr19 47569842 47569842 G C rs309195 ZC3H4 Nonsynonymous SNV A1228G 0.007 0.003 0.02 2 8 1 0.005 6 0 0 2 0 2.071 58066 chr19 53410373 53410373 A G rs2870128 ZNF888 Nonsynonymous SNV I401T 0.216 0.169 0.133 65 254 65 0.167 39 27 6 5 4 0.742 58067 chr8 144892984 144892984 C T rs148555909 SCRIB Nonsynonymous SNV D426N 0.027 0.016 0.01 8 32 6 0.021 3 0 0 0 1 18.52 58068 chr19 53410828 53410828 T C rs6509702 ZNF888 Synonymous SNV K249K 0.216 0.169 0.109 65 254 65 0.167 32 27 6 5 4 0.382 58069 chr19 53411166 53411166 A C rs7255668 ZNF888 Nonsynonymous SNV Y137D 0.216 0.169 0.173 65 254 65 0.167 51 27 6 6 4 0.229 58070 chr19 53411347 53411347 C A rs7256037 ZNF888 Synonymous SNV L76L 0.216 0.169 0.163 65 254 65 0.167 48 27 6 6 4 0.284 58071 chr19 52448461 52448461 G A ZNF613 Nonsynonymous SNV C442Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.77 58072 chr19 53411368 53411368 G A rs7256260 ZNF888 Synonymous SNV H69H 0.216 0.169 0.146 65 254 65 0.167 43 27 6 6 4 1.264 58073 chr19 23556605 23556605 A G rs34740519 ZNF91 Synonymous SNV Y64Y 0.004 0.018 0.003 5 5 7 0.013 1 0 0 0 0 Benign 0.002 58074 chr19 48699054 48699054 G A rs780490656 ZSWIM9 Nonsynonymous SNV R578K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 58075 chr8 144895893 144895893 G A rs143514418 SCRIB Synonymous SNV L120L 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 0.469 58076 chr19 23836322 23836322 C T rs117986084 ZNF675 Synonymous SNV K471K 0.038 0.034 0.014 23 45 13 0.059 4 1 0 0 0 8.96 58077 chr4 1211038 1211038 C G rs1009901 CTBP1-AS 0 0 0.078 0 0 0 0 23 0 0 0 0 7.753 58078 chr7 133884009 133884009 G A rs61753513 LRGUK Nonsynonymous SNV R528H 0.014 0.01 0.007 3 17 4 0.008 2 0 0 0 0 35 58079 chr4 123175966 123175966 G A rs80034298 KIAA1109 Synonymous SNV L2027L 0 0 0.01 2 0 0 0.005 3 0 0 0 0 Benign 9.499 58080 chr19 48953685 48953685 C T rs144047399 GRWD1 Nonsynonymous SNV A195V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 58081 chr19 2799757 2799757 C T rs143179443 THOP1 Nonsynonymous SNV T186M 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.1 58082 chr4 123277021 123277021 G A rs142747603 KIAA1109 Synonymous SNV L4792L 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 11.5 58083 chr8 105010471 105010471 G A rs182266368 RIMS2 Nonsynonymous SNV D827N 0.012 0.013 0.017 5 14 5 0.013 5 0 0 0 0 21.1 58084 chr19 49129486 49129486 G A rs61748787 SPHK2 Synonymous SNV G90G 0.055 0.057 0.078 23 65 22 0.059 23 1 1 0 0 8.535 58085 chr7 134879721 134879721 G T rs201718417 WDR91 Nonsynonymous SNV L454M 0.007 0.005 0 0 8 2 0 0 0 0 0 0 22.5 58086 chr19 2853130 2853130 G A rs763224777 ZNF555 Nonsynonymous SNV R355Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.6 58087 chr19 48517495 48517495 T C rs117586587 ELSPBP1 Synonymous SNV I46I 0.021 0.016 0.014 11 25 6 0.028 4 0 0 0 0 0.065 58088 chr8 144994033 144994033 G A rs782592296 PLEC Nonsynonymous SNV A3305V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 58089 chr8 117950758 117950758 G T rs111477672 AARD Nonsynonymous SNV Q92H 0.016 0.029 0.037 11 19 11 0.028 11 1 0 0 1 11.98 58090 chr4 1244879 1244879 A G rs1564508 CTBP1-DT 0 0 0.446 0 0 0 0 131 0 0 27 0 2.698 58091 chr7 134896167 134896167 C A rs140576013 WDR91 Nonsynonymous SNV A30S 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 23.2 58092 chr19 53761764 53761764 A G rs200264390 VN1R2 Nonsynonymous SNV T46A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.145 58093 chr4 126336850 126336850 G A rs138078089 FAT4 Synonymous SNV T2244T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 2.372 58094 chr19 52888076 52888076 - TGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG ZNF880 Stop gain K415_R577delinsMRSGDRDHPG 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 58095 chr19 53761766 53761766 C T rs113873413 VN1R2 Synonymous SNV T46T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.07 58096 chr19 53762633 53762633 C T rs201104873 VN1R2 Synonymous SNV Y335Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 5.78 58097 chr4 126412154 126412154 G A rs72675395 FAT4 Nonsynonymous SNV R4727K 0.018 0.021 0.017 8 21 8 0.021 5 0 0 0 0 Benign 14.88 58098 chr8 105160955 105160955 C T rs188924401 RIMS2 Synonymous SNV D1046D 0.008 0 0 0 9 0 0 0 0 0 0 0 18.93 58099 chr19 54140132 54140132 C T rs201435914 DPRX Stop gain R156X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Pathogenic 36 58100 chr4 128741710 128741710 T C rs35518193 HSPA4L Nonsynonymous SNV I560T 0.054 0.057 0.085 22 63 22 0.056 25 3 1 0 0 18.37 58101 chr19 48733756 48733756 G C rs73573000 CARD8 Nonsynonymous SNV P275R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.004 58102 chr19 48733863 48733863 A G rs59334088 CARD8 Synonymous SNV A239A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.007 58103 chr8 107782065 107782065 A G rs13259080 ABRA Synonymous SNV Y118Y 0.17 0.164 0.16 59 199 63 0.151 47 24 7 3 2 0.266 58104 chr19 48734195 48734195 T G rs59878320 CARD8 Nonsynonymous SNV E154A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.002 58105 chr19 5455735 5455735 G A rs2240744 ZNRF4 Nonsynonymous SNV R78Q 0.186 0.193 0.201 68 218 74 0.174 59 20 6 6 3 0.003 58106 chr19 48734942 48734942 T C rs11881179 CARD8 Nonsynonymous SNV I123V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.001 58107 chr19 48741734 48741734 A G rs12463023 CARD8 Nonsynonymous SNV S39P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.002 58108 chr19 49436980 49436980 T A rs61742557 DHDH Star tloss M1? 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.6 58109 chr19 3823292 3823292 G A rs61744821 ZFR2 Synonymous SNV P441P 0.036 0.021 0.003 13 42 8 0.033 1 0 0 0 0 7.622 58110 chr19 48965664 48965664 T C KCNJ14 Nonsynonymous SNV V228A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 58111 chr4 13605166 13605166 T C rs144356606 BOD1L1 Nonsynonymous SNV M1120V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 58112 chr7 138943330 138943330 G C rs202078043 UBN2 Nonsynonymous SNV E254Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 58113 chr7 138978705 138978705 A G rs146645750 UBN2 Synonymous SNV A1324A 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 7.155 58114 chr19 50100192 50100192 G A rs181265966 PRR12 Nonsynonymous SNV R867H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 58115 chr8 125076754 125076754 G C FER1L6 Synonymous SNV P1165P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 9.408 58116 chr8 125094581 125094581 A T rs755375349 FER1L6 Nonsynonymous SNV I1425F 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 26.8 58117 chr19 33953912 33953912 A G rs3745969 PEPD Synonymous SNV Y156Y 0.025 0.021 0.02 11 29 8 0.028 6 0 0 0 0 Benign/Likely benign 1.21 58118 chr7 139715645 139715645 C A rs5763 TBXAS1 Nonsynonymous SNV T389N 0.033 0.029 0.034 6 39 11 0.015 10 0 0 0 0 Likely benign 2.437 58119 chr7 139724555 139724555 C G rs3735352 PARP12 Synonymous SNV P637P 0.054 0.055 0.051 13 63 21 0.033 15 2 0 1 0 11.39 58120 chr7 139746793 139746793 C T rs34111764 PARP12 Nonsynonymous SNV V293I 0.055 0.052 0.075 13 64 20 0.033 22 2 0 1 0 12.12 58121 chr19 501714 501714 C A rs78071082 MADCAM1 Nonsynonymous SNV P238Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.13 58122 chr8 125555427 125555427 C T rs142579814 NDUFB9 Synonymous SNV A11A 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 Benign/Likely benign 10.17 58123 chr8 125562029 125562029 C T rs10195 NDUFB9 Nonsynonymous SNV P90S 0.062 0.06 0.092 16 73 23 0.041 27 2 1 1 0 Benign 13.31 58124 chr19 38610014 38610014 G A rs139903780 SIPA1L3 Nonsynonymous SNV R787H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 58125 chr19 50339023 50339023 G A rs369707406 MED25 Nonsynonymous SNV V596I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.1 58126 chr8 125989460 125989460 A C rs10104558 ZNF572 Nonsynonymous SNV K317T 0.024 0.042 0.027 16 28 16 0.041 8 0 0 1 0 22.7 58127 chr19 3544901 3544901 G A rs141551845 MFSD12 Synonymous SNV Y433Y 0.009 0.008 0.01 3 10 3 0.008 3 0 0 0 0 6.987 58128 chr8 125989649 125989649 G A rs10105106 ZNF572 Nonsynonymous SNV G380E 0.03 0.042 0.027 16 35 16 0.041 8 0 0 1 0 24.5 58129 chr4 141206162 141206162 G A rs143586748 SCOC-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.117 58130 chr4 141320081 141320081 G A rs114046582 CLGN Nonsynonymous SNV P270S 0.027 0.026 0.017 11 32 10 0.028 5 0 0 0 1 23.2 58131 chr8 125989852 125989852 A T rs10107774 ZNF572 Nonsynonymous SNV S448C 0.03 0.042 0.027 16 35 16 0.041 8 0 0 1 0 7.156 58132 chr8 125990079 125990079 C T rs73706181 ZNF572 Synonymous SNV S523S 0.026 0.042 0.027 16 31 16 0.041 8 0 0 1 0 1.63 58133 chr4 144480634 144480634 G A rs17017911 GUSBP5 0 0 0.136 0 0 0 0 40 0 0 5 0 6.771 58134 chr19 50720940 50720940 T C rs34796700 MYH14 Synonymous SNV I158I 0.037 0.039 0.071 6 43 15 0.015 21 1 1 0 0 Benign 6.641 58135 chr8 133015528 133015528 A G rs147579193 EFR3A Nonsynonymous SNV I750V 0.013 0.016 0.027 3 15 6 0.008 8 0 0 1 0 11.95 58136 chr8 133759318 133759318 A G rs74775484 TMEM71 Synonymous SNV S119S 0.13 0.133 0.122 46 153 51 0.118 36 10 3 4 2 7.43 58137 chr8 121824063 121824063 C A rs190526297 SNTB1 Synonymous SNV A7A 0.05 0.07 0.078 20 59 27 0.051 23 0 1 1 2 20.5 58138 chr8 123965484 123965484 G A rs34092125 ZHX2 Synonymous SNV S578S 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 Benign 6.106 58139 chr19 39915733 39915733 C T rs138077206 PLEKHG2 Synonymous SNV P1320P 0.026 0.026 0.027 11 31 10 0.028 8 1 0 0 0 3.723 58140 chr8 124195352 124195352 G T rs148011353 FAM83A Stop gain G86X 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 26.2 58141 chr19 35832703 35832703 G A rs187566490 CD22 Nonsynonymous SNV V447I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.03 58142 chr8 136561137 136561137 C T rs16905401 KHDRBS3 Synonymous SNV L155L 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 12.42 58143 chr4 154624316 154624316 A G rs142041844 TLR2 Nonsynonymous SNV N86S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.123 58144 chr8 145730760 145730760 C T rs762385509 GPT Synonymous SNV D209D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 58145 chr19 49993116 49993116 C T rs750179690 RPL13A Nonsynonymous SNV L9F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 58146 chr19 5455800 5455800 G A rs2240745 ZNRF4 Nonsynonymous SNV V100I 0.071 0.073 0.082 22 83 28 0.056 24 2 1 1 1 15.57 58147 chr19 35941252 35941252 G A rs753316084 FFAR2 Synonymous SNV V212V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.388 58148 chr19 50099359 50099359 C T rs146167986 PRR12 Synonymous SNV Y589Y 0.028 0.026 0.037 16 33 10 0.041 11 1 0 0 1 3.017 58149 chr8 124818447 124818447 C G rs2272684 FAM91A1 Synonymous SNV L428L 0.055 0.06 0.051 17 64 23 0.044 15 2 0 1 0 12.18 58150 chr19 3611846 3611846 C T rs575613511 CACTIN-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.941 58151 chr8 124968243 124968243 T C rs74403458 FER1L6 Nonsynonymous SNV F2S 0.022 0.005 0.01 6 26 2 0.015 3 1 0 0 0 27 58152 chr19 55743286 55743286 G A rs111560071 PPP6R1 Synonymous SNV S730S 0 0.008 0 4 0 3 0.01 0 0 0 0 0 9.157 58153 chr19 36211742 36211742 C A rs80216638 KMT2B Nonsynonymous SNV T498N 0.033 0.026 0.034 11 39 10 0.028 10 1 0 0 0 11.49 58154 chr19 40729096 40729096 C G rs147729392 CNTD2 Nonsynonymous SNV D263H 0.042 0.016 0.041 10 49 6 0.026 12 1 0 0 0 6.493 58155 chr8 125565760 125565760 T C rs143860749 MTSS1 Nonsynonymous SNV M516V 0.011 0.005 0.003 0 13 2 0 1 0 0 0 0 1.765 58156 chr19 408275 408275 C T rs774595559 C2CD4C Synonymous SNV G29G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.179 58157 chr19 36255965 36255965 C G rs7252936 PROSER3 Synonymous SNV L219L 0.055 0.065 0.065 24 64 25 0.062 19 2 1 1 0 10.07 58158 chr8 142441114 142441114 C A rs146888819 PTP4A3 Nonsynonymous SNV H139Q 0.003 0.008 0 5 4 3 0.013 0 0 0 0 0 13.87 58159 chr19 55914424 55914424 A G rs150863082 RPL28 Synonymous SNV P146P 0.028 0.023 0.017 12 33 9 0.031 5 1 0 0 1 0.179 58160 chr19 36271139 36271139 C T rs231233 ARHGAP33 Synonymous SNV L40L 0.06 0.068 0.075 29 70 26 0.074 22 2 1 1 0 12.88 58161 chr19 36290977 36290977 C T rs3761097 PRODH2 Nonsynonymous SNV R525Q 0.046 0.057 0.054 23 54 22 0.059 16 0 1 0 1 24.5 58162 chr8 143747172 143747172 G A rs150164684 JRK Synonymous SNV S102S 0.014 0.016 0.014 6 17 6 0.015 4 0 0 0 0 7.533 58163 chr9 2824760 2824760 C G PUM3 Nonsynonymous SNV G364A 0.002 0 0 0 2 0 0 0 0 0 0 0 32 58164 chr9 2828742 2828742 C A rs2270891 PUM3 Nonsynonymous SNV V297L 0.049 0.052 0.01 20 57 20 0.051 3 1 2 0 0 18.6 58165 chr8 133111166 133111166 T C rs76625657 HHLA1 Synonymous SNV T81T 0.037 0.026 0.037 13 44 10 0.033 11 0 0 0 2 0.711 58166 chr19 55420629 55420629 G A rs367914877 NCR1 Synonymous SNV S32S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 9.753 58167 chr9 2838470 2838470 C T rs10968457 PUM3 Nonsynonymous SNV S13N 0.057 0.052 0.027 21 67 20 0.054 8 1 2 0 0 6.218 58168 chr19 41704755 41704755 C T rs199907167 CYP2S1 Nonsynonymous SNV R266C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.3 58169 chr8 133854762 133854762 A G PHF20L1 Nonsynonymous SNV N771S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 14.92 58170 chr19 55493651 55493651 C T rs10403648 NLRP2 Synonymous SNV F173F 0.054 0.049 0.054 30 63 19 0.077 16 3 0 0 0 7.226 58171 chr19 50949163 50949163 G A rs35449474 MYBPC2 Nonsynonymous SNV R387Q 0.026 0.021 0.003 6 31 8 0.015 1 0 0 0 0 26.2 58172 chr7 148863288 148863288 C T rs758144356 ZNF398 Synonymous SNV S153S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.74 58173 chr9 4685008 4685008 C T rs2295967 CDC37L1 Synonymous SNV S88S 0.083 0.083 0.078 30 98 32 0.077 23 2 1 2 1 14.45 58174 chr8 144403449 144403449 G A rs61631623 TOP1MT Synonymous SNV G258G 0.091 0.089 0.065 38 107 34 0.097 19 4 2 1 0 2.501 58175 chr19 56369084 56369084 C T NLRP4 Nonsynonymous SNV R109C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.571 58176 chr8 144413416 144413416 G A rs2450772 TOP1MT Synonymous SNV D72D 0.1 0.102 0.078 42 117 39 0.108 23 4 3 2 0 3.646 58177 chr8 144457746 144457746 C A rs34876718 RHPN1 Synonymous SNV I28I 0.092 0.094 0.051 41 108 36 0.105 15 5 2 1 2 9.339 58178 chr9 5920886 5920886 G A rs17579502 KIAA2026 Nonsynonymous SNV L1704F 0.073 0.07 0.068 18 86 27 0.046 20 1 2 2 0 9.822 58179 chr8 144511954 144511959 TGGTGG - rs758856279 MAFA H207_H208del 0.088 0.065 0.014 25 103 25 0.064 4 16 3 1 1 58180 chr8 144511957 144511959 TGG - MAFA H208del 0.053 0.049 0 27 62 19 0.069 0 0 0 0 0 58181 chr8 144589985 144589985 G A rs149025999 ZC3H3 Nonsynonymous SNV S549L 0.017 0.023 0.01 10 20 9 0.026 3 1 0 0 0 26.3 58182 chr19 41938222 41938222 C T rs2231943 DMAC2 Nonsynonymous SNV E203K 0.023 0.013 0.003 8 27 5 0.021 1 0 0 0 0 not provided 0.013 58183 chr8 139712355 139712355 G A rs77613350 COL22A1 Synonymous SNV P864P 0.013 0.01 0.014 2 15 4 0.005 4 1 0 0 0 0.172 58184 chr9 12775861 12775861 - GGCGGC rs139315731 LURAP1L G55_C56insGG 0.075 0.083 0.02 28 88 32 0.072 6 3 0 2 1 58185 chr8 144642881 144642881 G A rs112103340 GSDMD Synonymous SNV T173T 0.049 0.055 0.041 25 57 21 0.064 12 1 1 0 0 3.526 58186 chr8 144642932 144642932 G A rs62000422 GSDMD Synonymous SNV T190T 0.047 0.049 0.037 25 55 19 0.064 11 1 1 0 0 9.215 58187 chr7 150434689 150434689 C T rs9657892 GIMAP1-GIMAP5 Nonsynonymous SNV R39C 0.024 0.039 0.024 11 28 15 0.028 7 0 0 0 0 9.819 58188 chr19 55672055 55672055 A G rs890871 DNAAF3 Nonsynonymous SNV L402P 0.026 0.018 0.014 18 31 7 0.046 4 0 0 0 0 Benign/Likely benign 5.652 58189 chr9 13121811 13121811 C A rs751842122 MPDZ Nonsynonymous SNV V1687L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.24 58190 chr19 51503331 51503331 G A rs10409072 KLK8 Synonymous SNV P17P 0.049 0.034 0.044 18 57 13 0.046 13 3 0 1 0 12.11 58191 chr19 42126994 42126994 - C CEACAM4 Frameshift insertion A144Gfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 58192 chr19 51504415 51504415 G C rs34542531 KLK8 Synonymous SNV R3R 0.047 0.029 0.044 15 55 11 0.038 13 4 0 1 0 10.74 58193 chr9 13196195 13196195 T C MPDZ Nonsynonymous SNV I527M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.32 58194 chr19 55673164 55673164 T C rs56726774 DNAAF3 Synonymous SNV V238V 0.026 0.016 0.014 18 30 6 0.046 4 0 0 0 0 Benign/Likely benign 1.762 58195 chr19 55673654 55673654 T C rs3848618 DNAAF3 Synonymous SNV R177R 0.026 0.018 0.017 18 31 7 0.046 5 0 0 0 0 Benign/Likely benign 0.045 58196 chr19 51518038 51518060 TGGAGCGTAGCATCTGGATCAGT - rs534291554 KLK10 N276Sfs*2 0.04 0.021 0.027 16 47 8 0.041 8 2 0 1 0 58197 chr19 55686705 55686705 G T rs1128712 SYT5 Synonymous SNV V178V 0.028 0.018 0.02 17 33 7 0.044 6 0 0 0 0 12.01 58198 chr19 55690424 55690424 G A rs2301278 SYT5 Synonymous SNV S50S 0.026 0.016 0.024 17 31 6 0.044 7 0 0 1 0 7.064 58199 chr19 55693123 55693123 T C rs2288420 PTPRH Synonymous SNV X938X 0.026 0.018 0.02 17 31 7 0.044 6 0 0 0 0 0.456 58200 chr19 3760130 3760130 C T rs199883480 APBA3 Nonsynonymous SNV G45S 0 0 0 2 0 0 0.005 0 0 0 0 0 8.589 58201 chr8 144689289 144689289 C T rs11549789 PYCR3 Nonsynonymous SNV R57Q 0.06 0.065 0.082 27 71 25 0.069 24 2 2 0 1 8.91 58202 chr19 55710021 55710021 A G rs2288518 PTPRH Synonymous SNV T382T 0.026 0.018 0.017 17 31 7 0.044 5 0 0 0 0 0.094 58203 chr19 42777603 42777603 G A rs139892484 CIC Synonymous SNV T556T 0.02 0.013 0.02 10 24 5 0.026 6 0 0 0 0 9.207 58204 chr19 52619977 52619977 C T rs143649418 ZNF616 Nonsynonymous SNV R147H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.205 58205 chr19 55751238 55751238 A C rs115694218 PPP6R1 Nonsynonymous SNV S507A 0.011 0.003 0.01 4 13 1 0.01 3 0 0 0 0 0.311 58206 chr19 55753536 55753536 C A rs7507792 PPP6R1 Synonymous SNV P281P 0.01 0.003 0.007 4 12 1 0.01 2 0 0 0 0 14.85 58207 chr4 17590587 17590587 A G rs778487994 LAP3 Nonsynonymous SNV I284V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 58208 chr19 55756992 55756992 A G rs61737174 PPP6R1 Synonymous SNV D94D 0.009 0.003 0.01 4 11 1 0.01 3 0 0 0 0 4.745 58209 chr19 4311942 4311942 C T rs34953789 FSD1 Synonymous SNV Y198Y 0.046 0.031 0.041 16 54 12 0.041 12 1 0 1 0 13.42 58210 chr4 17690076 17690076 G A rs375027395 FAM184B Nonsynonymous SNV R523C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 11.18 58211 chr7 150884171 150884171 G A rs775187150 ASB10 Nonsynonymous SNV P16L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.37 58212 chr19 51984727 51984727 A G rs12610545 CEACAM18 Nonsynonymous SNV T161A 0.025 0.008 0.014 4 29 3 0.01 4 0 0 0 0 8.099 58213 chr8 144942796 144942796 C A rs142520085 EPPK1 Nonsynonymous SNV K1542N 0.009 0.021 0 11 10 8 0.028 0 0 1 0 0 22.9 58214 chr9 19346451 19346451 G A rs145080434 DENND4C Synonymous SNV R1179R 0.021 0.013 0.01 4 25 5 0.01 3 1 0 0 0 0.659 58215 chr8 143762807 143762807 G A rs3736001 PSCA Nonsynonymous SNV E30K 0.016 0.018 0.007 5 19 7 0.013 2 0 0 0 0 0.006 58216 chr9 20414310 20414310 - CTGCTG MLLT3 S187_T188insSS 0.001 0 0 0 1 0 0 0 0 0 0 0 58217 chr9 20414343 20414343 A G rs372894655 MLLT3 Synonymous SNV S164S 0.026 0.013 0.003 7 31 5 0.018 1 0 0 0 0 0.019 58218 chr9 20414376 20414376 A G rs1761445 MLLT3 Synonymous SNV S153S 0.062 0.078 0.017 29 73 30 0.074 5 3 0 0 0 Benign 0.082 58219 chr8 143784275 143784275 C T rs2294012 LY6K Synonymous SNV P77P 0.016 0.018 0.01 5 19 7 0.013 3 0 0 0 0 7.703 58220 chr8 143784971 143784971 A C rs2294011 LNCOC1 0.016 0.018 0 5 19 7 0.013 0 0 0 0 0 0.42 58221 chr4 178881982 178881982 G T rs13109967 LINC01098 0 0 0.483 0 0 0 0 142 0 0 38 0 0.937 58222 chr19 38673353 38673353 G A rs61729145 SIPA1L3 Nonsynonymous SNV R1468Q 0.037 0.047 0.034 22 44 18 0.056 10 0 0 0 3 25.4 58223 chr19 56002329 56002329 C T rs4801305 SSC5D Synonymous SNV P259P 0.048 0.055 0.051 25 56 21 0.064 15 1 2 1 1 13.11 58224 chr7 155150442 155150442 C T rs78285540 BLACE 0.014 0.018 0 4 17 7 0.01 0 0 0 0 0 2.076 58225 chr19 38876405 38876405 - GCCGGGGATGGGGCCGGGGCCGGG rs539043327 GGN P502_T503insAPSPAPAP 0.012 0.005 0.058 7 14 2 0.018 17 3 0 0 0 58226 chr19 5218482 5218482 G A rs367722276 PTPRS Nonsynonymous SNV H902Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.5 58227 chr4 184931514 184931514 C T rs375884130 STOX2 Nonsynonymous SNV T508M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 58228 chr8 144996965 144996965 T C rs79121794 PLEC Nonsynonymous SNV M2364V 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 Uncertain significance 9.677 58229 chr19 53117559 53117559 T A ZNF83 Nonsynonymous SNV N87Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.183 58230 chr8 144999499 144999499 C T rs201430180 PLEC Nonsynonymous SNV R1519Q 0.011 0.008 0.007 11 13 3 0.028 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 58231 chr9 32631966 32631966 G A rs45559233 TAF1L Synonymous SNV V1204V 0.055 0.052 0.044 21 65 20 0.054 13 4 2 0 0 13.96 58232 chr7 157903582 157903582 G A rs141762019 PTPRN2 Nonsynonymous SNV R490W 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 24.7 58233 chr4 186336465 186336465 T C rs2289722 UFSP2 Synonymous SNV Q176Q 0.058 0.052 0.088 24 68 20 0.062 26 2 0 0 0 1.25 58234 chr8 144654217 144654217 G A rs755778371 MROH6 Nonsynonymous SNV R145W 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 22.1 58235 chr19 39226873 39226873 - GGCGGGCGCTGAGG rs766614584 CAPN12 Frameshift insertion R487Pfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 58236 chr19 39226927 39226927 T C rs62120074 CAPN12 Nonsynonymous SNV H469R 0.052 0.034 0.01 13 61 13 0.033 3 5 0 0 1 0.304 58237 chr4 186544342 186544342 T C rs149353219 SORBS2 Synonymous SNV K647K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.002 58238 chr8 145101758 145101758 G A rs142323007 SPATC1 Synonymous SNV V559V 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 Benign 0.154 58239 chr4 186544595 186544595 C T rs772119014 SORBS2 Nonsynonymous SNV G563D 0 0 0.007 0 0 0 0 2 0 0 0 0 27.1 58240 chr7 158711439 158711439 C T rs41271220 WDR60 Synonymous SNV A409A 0.015 0.021 0.014 8 18 8 0.021 4 0 0 0 0 Benign 10.45 58241 chr19 44605324 44605324 A G rs118149610 ZNF224 Nonsynonymous SNV R61G 0.015 0.008 0.007 6 18 3 0.015 2 0 0 0 0 2.94 58242 chr9 34385757 34385757 C T rs112332239 C9orf24 Nonsynonymous SNV R53Q 0.028 0.026 0.027 13 33 10 0.033 8 1 0 0 1 17.14 58243 chr4 187112310 187112310 G A rs35641294 FLJ38576 0 0 0.303 0 0 0 0 89 0 0 14 0 12.15 58244 chr4 187112394 187112394 A T rs6814261 FLJ38576 0 0 0.313 0 0 0 0 92 0 0 16 0 5.341 58245 chr8 145134899 145134899 A G rs111633196 EXOSC4 Synonymous SNV Q75Q 0.009 0.008 0 6 11 3 0.015 0 0 0 0 0 Benign 1.608 58246 chr8 145135498 145135498 G A rs113319063 EXOSC4 Synonymous SNV G244G 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 2.276 58247 chr8 145140564 145140564 G A rs112521600 GPAA1 Nonsynonymous SNV A514T 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 Benign 15.04 58248 chr19 5827765 5827765 G A rs79744308 NRTN Nonsynonymous SNV A59T 0.03 0.036 0.048 8 35 14 0.021 14 1 1 0 1 Benign 23.2 58249 chr19 5828064 5828064 G C rs7255720 NRTN Synonymous SNV R158R 0.03 0.036 0.051 8 35 14 0.021 15 1 1 0 1 Benign 12.71 58250 chr19 58601452 58601452 G A rs61736354 ZSCAN18 Synonymous SNV A117A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.16 58251 chr19 5661801 5661801 G A SAFB Nonsynonymous SNV R554Q 0.004 0.01 0 0 5 4 0 0 0 0 0 0 28.7 58252 chr8 144945905 144945905 C T rs531865050 EPPK1 Nonsynonymous SNV R506Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.11 58253 chr8 145577618 145577618 G A rs145236969 TMEM249 Stop gain R115X 0.009 0.013 0 6 11 5 0.015 0 0 0 0 0 8.785 58254 chr8 144947117 144947117 C A rs150047119 EPPK1 Nonsynonymous SNV G102V 0.013 0.021 0.01 12 15 8 0.031 3 0 0 0 0 26.7 58255 chr8 144990540 144990540 G A rs782187551 PLEC Synonymous SNV S4469S 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.381 58256 chr19 56896483 56896483 T C rs371543023 ZNF582 Synonymous SNV Q132Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 58257 chr8 144991995 144991995 G A rs113137721 PLEC Synonymous SNV P3984P 0.014 0.016 0.024 8 17 6 0.021 7 0 0 1 0 Conflicting interpretations of pathogenicity 0.772 58258 chr19 40900460 40900460 C T rs542711361 PRX Nonsynonymous SNV G1267R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.8 58259 chr19 53792954 53792954 G A rs34683072 BIRC8 0.059 0.042 0.082 33 69 16 0.085 24 1 1 2 0 13.12 58260 chr19 53792955 53792955 C T rs35700345 BIRC8 0.059 0.042 0.082 33 69 16 0.085 24 1 1 2 0 0.234 58261 chr19 621076 621076 G A rs144035257 POLRMT Synonymous SNV S874S 0.06 0.065 0.065 18 71 25 0.046 19 7 6 3 3 2.435 58262 chr19 6222353 6222353 C T rs11880101 MLLT1 Nonsynonymous SNV A297T 0.007 0.008 0.003 6 8 3 0.015 1 0 0 0 0 24.8 58263 chr19 5711930 5711930 C T rs11085147 LONP1 Nonsynonymous SNV R45Q 0.021 0.034 0.02 9 25 13 0.023 6 0 0 0 0 Benign 22.4 58264 chr19 6368688 6368688 G A rs112620134 CLPP Synonymous SNV A267A 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 Benign/Likely benign 9.113 58265 chr19 57176096 57176096 C G rs77114013 ZNF835 Nonsynonymous SNV Q157H 0.025 0.016 0.017 6 29 6 0.015 5 0 0 0 0 23 58266 chr19 6416443 6416443 - T rs146253337 MIR3940 0.037 0.055 0.034 10 43 21 0.026 10 1 0 0 0 58267 chr19 6468907 6468907 G A rs35001260 DENND1C Nonsynonymous SNV R445C 0.017 0.031 0.017 5 20 12 0.013 5 0 0 0 0 24 58268 chr8 145741787 145741787 G A rs146709578 RECQL4 Nonsynonymous SNV A239V 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.032 58269 chr19 41205996 41205996 G A rs56056214 COQ8B Synonymous SNV F332F 0.01 0.013 0.01 6 12 5 0.015 3 0 0 0 0 Benign 9.809 58270 chr19 54848759 54848759 G A rs150520656 LILRA4 Synonymous SNV S288S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.724 58271 chr8 145001205 145001205 C T rs148465219 PLEC Synonymous SNV P1281P 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 16.61 58272 chr19 5455543 5455543 G C rs144624511 ZNRF4 Nonsynonymous SNV S14T 0.016 0.013 0.014 12 19 5 0.031 4 0 0 0 0 0.001 58273 chr8 9622282 9622282 - AGAT TNKS Stop gain Y1145* 0.005 0.003 0 0 6 1 0 0 0 0 0 0 58274 chr19 57328916 57328916 T G rs762779366 PEG3 Synonymous SNV S143S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.816 58275 chr19 45295664 45295664 A G rs149074838 CBLC Nonsynonymous SNV M298V 0.014 0.005 0.024 7 17 2 0.018 7 0 0 0 0 23.2 58276 chr19 45575663 45575663 T G rs61753954 ZNF296 Synonymous SNV A208A 0.009 0.018 0.003 0 10 7 0 1 0 0 0 0 4.357 58277 chr19 4558431 4558431 C G rs2304213 SEMA6B Synonymous SNV L13L 0.071 0.063 0.099 39 83 24 0.1 29 32 10 9 15 11.8 58278 chr8 145140003 145140003 G A rs782630422 GPAA1 Nonsynonymous SNV G408S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.196 58279 chr19 45852789 45852789 - G rs763155527 KLC3 Frameshift insertion A359Gfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 58280 chr19 41931660 41931660 G T rs117658014 B3GNT8 Synonymous SNV R342R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.393 58281 chr4 3475166 3475166 C T rs62272670 DOK7 Nonsynonymous SNV S45L 0 0.003 0.014 0 0 1 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 17.53 58282 chr19 55179128 55179128 A C rs2764337 LILRB4 Nonsynonymous SNV K392Q 0.037 0.044 0 10 44 17 0.026 0 0 0 0 0 0.001 58283 chr8 10467647 10467647 G C rs200373757 RP1L1 Nonsynonymous SNV Q1321E 0.054 0.055 0.054 21 63 21 0.054 16 1 0 0 0 Benign 0.033 58284 chr19 55179129 55179129 A C rs11574589 LILRB4 Nonsynonymous SNV K392T 0.042 0.047 0 11 49 18 0.028 0 0 0 0 0 0.608 58285 chr19 55179145 55179145 A T rs61738946 LILRB4 Nonsynonymous SNV R397S 0.03 0.029 0 7 35 11 0.018 0 0 0 0 0 4.428 58286 chr19 5778645 5778645 G A rs369350856 CATSPERD Synonymous SNV P785P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 6.5 58287 chr8 145166829 145166829 G A rs150852940 WDR97 Nonsynonymous SNV G893R 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 2.83 58288 chr4 3590824 3590827 ACAC - rs66807249 LINC00955 0 0 0.102 0 0 0 0 30 0 0 3 0 58289 chr9 77377410 77377410 C T rs3750425 TRPM6 Nonsynonymous SNV V1388I 0.1 0.099 0.156 30 117 38 0.077 46 5 1 4 0 Benign 0.129 58290 chr9 2622167 2622167 - CGGCGGCAC rs557391935 VLDLR-AS1 0.018 0.016 0.02 8 21 6 0.021 6 1 0 0 1 58291 chr4 3590911 3590911 A C rs34447251 LINC00955 0 0 0.466 0 0 0 0 137 0 0 0 0 0.003 58292 chr19 7762440 7762440 C T rs72558007 FCER2 Nonsynonymous SNV G75S 0.036 0.039 0.034 23 42 15 0.059 10 1 1 0 1 0.272 58293 chr19 4217510 4217510 A T rs12980998 ANKRD24 Nonsynonymous SNV T785S 0.044 0.042 0.102 20 52 16 0.051 30 5 3 3 1 0.001 58294 chr19 4217919 4217919 G A rs142674065 ANKRD24 Nonsynonymous SNV R921Q 0.016 0 0.031 8 19 0 0.021 9 1 0 0 0 24.6 58295 chr8 11666224 11666224 - TCCCACTCCCACTCCCAC FDFT1 S77_C78insHSHSHS 0.017 0.031 0 10 20 12 0.026 0 0 0 0 0 58296 chr8 11683622 11683622 T C rs2229247 FDFT1 Synonymous SNV D33D 0.03 0.042 0.048 12 35 16 0.031 14 0 1 0 1 1.925 58297 chr8 11695935 11695935 C G rs748342272 FDFT1 Nonsynonymous SNV S190R 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.025 58298 chr8 11706581 11706581 T C rs13332 CTSB Synonymous SNV T140T 0.026 0.039 0.01 12 31 15 0.031 3 0 1 0 1 6.355 58299 chr4 38016372 38016372 G A rs61731587 TBC1D1 Synonymous SNV A220A 0.022 0.01 0.054 4 26 4 0.01 16 0 0 0 0 7.925 58300 chr8 145693328 145693328 C T rs761767975 KIFC2 Synonymous SNV L256L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.185 58301 chr9 8504334 8504334 G C rs149726933 PTPRD Nonsynonymous SNV F573L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25 58302 chr19 4234809 4234809 G A rs150368083 EBI3 Synonymous SNV A175A 0.011 0.01 0.014 3 13 4 0.008 4 1 0 0 0 7.143 58303 chr19 58491382 58491382 G A rs142503772 ZNF606 Synonymous SNV N132N 0.033 0.029 0.01 7 39 11 0.018 3 0 0 0 0 0.207 58304 chr19 46997522 46997522 C T rs3745790 PNMA8B Nonsynonymous SNV V401I 0.059 0.094 0.061 24 69 36 0.062 18 2 4 1 0 24.7 58305 chr4 39482440 39482440 G A rs2276891 LOC401127 0 0 0.082 0 0 0 0 24 0 0 1 0 1.646 58306 chr4 40044833 40044833 C A rs28550618 LOC344967 0 0 0.245 0 0 0 0 72 0 0 9 0 7.506 58307 chr4 40044926 40044926 G A LOC344967 0 0 0.003 0 0 0 0 1 0 0 0 0 5.539 58308 chr4 40045340 40045340 G C rs17439810 LOC344967 0 0 0.245 0 0 0 0 72 0 0 9 0 2.084 58309 chr4 40045727 40045727 T G rs1704151 LOC344967 0 0 0.925 0 0 0 0 272 0 0 131 0 3.998 58310 chr4 40356031 40356031 G A rs56210055 CHRNA9 Nonsynonymous SNV A312T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 25.8 58311 chr8 16859310 16859310 G C rs112951749 FGF20 Nonsynonymous SNV Q78E 0.055 0.063 0 21 64 24 0.054 0 0 0 0 0 11.51 58312 chr9 14776178 14776178 C T rs61732355 FREM1 Nonsynonymous SNV R25Q 0.017 0.018 0.027 6 20 7 0.015 8 0 0 0 0 Conflicting interpretations of pathogenicity 17.09 58313 chr8 16859332 16859332 A G rs112352647 FGF20 Synonymous SNV Y70Y 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 7.92 58314 chr8 16859341 16859341 C G rs796822276 FGF20 Synonymous SNV R67R 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 15.01 58315 chr8 16859347 16859347 G C rs796448091 FGF20 Synonymous SNV R65R 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 14.14 58316 chr9 80039011 80039011 T C GNA14 Nonsynonymous SNV K318E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.7 58317 chr9 15564102 15564102 T G rs140379406 CCDC171 Nonsynonymous SNV S6A 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 1.805 58318 chr9 16738403 16738403 T A rs76485966 BNC2 Synonymous SNV A28A 0.017 0.029 0.014 4 20 11 0.01 4 0 0 0 0 not provided 9.206 58319 chr4 419955 419955 G T rs17720399 ABCA11P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.311 58320 chr19 47856569 47856569 C A rs143813328 DHX34 Synonymous SNV A94A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 58321 chr19 44117191 44117191 T C rs71362667 SRRM5 Synonymous SNV S306S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.612 58322 chr19 47979936 47979936 C T rs201351395 KPTN Synonymous SNV S289S 0.006 0 0 0 7 0 0 0 0 0 0 0 Likely benign 12.48 58323 chr19 48048515 48048515 T C rs56162770 ZNF541 Nonsynonymous SNV K424R 0.023 0.023 0.007 3 27 9 0.008 2 0 0 0 0 21.3 58324 chr19 48255828 48255828 C T rs149754833 NOP53 Synonymous SNV A243A 0.011 0.01 0.01 4 13 4 0.01 3 0 0 0 0 13.08 58325 chr19 48257968 48257968 G C NOP53 Nonsynonymous SNV E291D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 58326 chr9 91652995 91652995 C T rs1054566528 SHC3 Synonymous SNV K523K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.86 58327 chr4 47839939 47839939 C T rs61758484 CORIN Nonsynonymous SNV E10K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.67 58328 chr4 48091768 48091768 G A rs17470585 TXK Synonymous SNV Y261Y 0.026 0.01 0.027 7 31 4 0.018 8 1 0 0 0 5.545 58329 chr19 880010 880010 G A rs183780401 MED16 Nonsynonymous SNV P427L 0 0.005 0 0 0 2 0 0 0 0 0 0 22.7 58330 chr9 5361143 5361143 G C rs72703655 PLGRKT Nonsynonymous SNV P86R 0.021 0.034 0.014 3 25 13 0.008 4 0 1 0 0 28.1 58331 chr19 6664955 6664955 G A rs79452416 TNFSF14 Synonymous SNV F199F 0.007 0.008 0.003 6 8 3 0.015 1 0 0 0 0 Benign 8.772 58332 chr19 6697436 6697436 G A rs2230208 C3 Synonymous SNV T905T 0.007 0.008 0.003 5 8 3 0.013 1 0 0 0 0 Benign 7.29 58333 chr19 6702148 6702148 C T rs2230207 C3 Synonymous SNV S810S 0.007 0.008 0.003 5 8 3 0.013 1 0 0 0 0 Benign 9.005 58334 chr19 8953581 8953581 C T MBD3L1 Nonsynonymous SNV A76V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 58335 chr9 95993326 95993326 T C rs11787888 WNK2 Synonymous SNV S337S 0.152 0.177 0.18 69 179 68 0.177 53 19 7 4 8 6.329 58336 chr9 5832719 5832719 G C rs13302671 ERMP1 Nonsynonymous SNV H103Q 0.027 0.018 0.017 7 32 7 0.018 5 1 0 0 0 5.815 58337 chr9 96024182 96024182 G C rs12000967 WNK2 Synonymous SNV S1051S 0.135 0.125 0.133 61 158 48 0.156 39 15 4 4 7 10.21 58338 chr9 96026243 96026243 G A rs55981123 WNK2 Synonymous SNV T1208T 0.148 0.146 0.146 62 174 56 0.159 43 16 7 4 7 14.68 58339 chr9 5832840 5832840 C T rs62638713 ERMP1 Nonsynonymous SNV G63D 0.02 0.016 0.007 12 23 6 0.031 2 0 0 0 0 0.554 58340 chr4 5577986 5577986 G A rs112554914 EVC2 Synonymous SNV L1005L 0.036 0.034 0.034 19 42 13 0.049 10 2 0 0 0 Benign 3.021 58341 chr9 96080699 96080699 C T rs36081907 C9orf129 Nonsynonymous SNV R191H 0.138 0.133 0.15 61 162 51 0.156 44 15 5 4 7 18.85 58342 chr9 96407920 96407920 C T rs7038310 PHF2 Synonymous SNV D103D 0.055 0.055 0.037 22 64 21 0.056 11 3 0 0 1 16.23 58343 chr9 96415482 96415482 A T rs56134753 PHF2 Synonymous SNV P208P 0.024 0.029 0.02 7 28 11 0.018 6 0 0 0 0 0.027 58344 chr9 13112024 13112024 C T rs34605667 MPDZ Nonsynonymous SNV R1846K 0.035 0.034 0.048 8 41 13 0.021 14 0 0 0 0 Benign 19.32 58345 chr19 56133203 56133203 C G rs7251008 ZNF784 Nonsynonymous SNV G296R 0.021 0.021 0.007 5 25 8 0.013 2 0 0 0 0 22.6 58346 chr19 4902680 4902680 C T rs138665621 ARRDC5 Nonsynonymous SNV S53N 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.002 58347 chr9 13193230 13193230 G C rs149265684 MPDZ Nonsynonymous SNV S580C 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 28.7 58348 chr19 56175097 56175097 C T rs139711814 U2AF2 Synonymous SNV S243S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.32 58349 chr8 22273687 22273687 T C rs6558052 SLC39A14 Synonymous SNV H347H 0.056 0.039 0.088 7 66 15 0.018 26 0 0 1 1 3.898 58350 chr8 22449181 22449181 C T rs73229817 PDLIM2 Nonsynonymous SNV A294V 0.057 0.049 0.085 27 67 19 0.069 25 1 0 2 1 19.28 58351 chr4 57467227 57467227 A C rs189562677 THEGL Nonsynonymous SNV H412P 0.013 0.026 0.034 5 15 10 0.013 10 0 0 0 0 20.6 58352 chr9 34256579 34256579 C T rs117856906 KIF24 Nonsynonymous SNV R1009K 0.003 0.008 0.003 8 4 3 0.021 1 0 0 0 1 0.114 58353 chr8 22675196 22675196 T C rs34057411 PEBP4 Nonsynonymous SNV E104G 0.055 0.052 0.027 10 64 20 0.026 8 2 0 0 0 6.74 58354 chr9 99522404 99522404 A C rs61735010 ZNF510 Nonsynonymous SNV N174K 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 1.147 58355 chr19 56466969 56466969 G A rs61734783 NLRP8 Synonymous SNV A515A 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 9.507 58356 chr9 15571630 15571630 T A rs443563 CCDC171 Nonsynonymous SNV I17N 0.054 0.065 0.034 23 63 25 0.059 10 1 0 1 0 0.075 58357 chr9 35075022 35075022 C T rs17885240 FANCG Nonsynonymous SNV R513Q 0.003 0.005 0.01 9 3 2 0.023 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 58358 chr19 56473561 56473561 C A rs147934431 NLRP8 Nonsynonymous SNV A724E 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 19.89 58359 chr19 9002576 9002576 T C rs80214581 MUC16 Nonsynonymous SNV K13414E 0.073 0.068 0.252 17 86 26 0.044 74 0 0 0 0 0.517 58360 chr19 9002588 9002588 G T rs375626523 MUC16 Synonymous SNV R13410R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.373 58361 chr4 6234934 6234934 G A rs572821812 LINC02495 0 0 0.024 0 0 0 0 7 0 0 0 0 3.977 58362 chr9 35717179 35717179 C T rs147636996 TLN1 Nonsynonymous SNV V808I 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 25.4 58363 chr19 45021252 45021252 G A rs16959164 CEACAM20 Nonsynonymous SNV S355L 0.025 0.029 0.014 10 29 11 0.026 4 1 1 0 0 3.474 58364 chr19 56735015 56735015 T C rs4801692 ZSCAN5A Synonymous SNV A74A 0.047 0.06 0.048 26 55 23 0.067 14 2 1 1 1 0.151 58365 chr8 23540249 23540249 G A rs2228013 NKX3-1 Nonsynonymous SNV R52C 0.066 0.078 0.071 20 78 30 0.051 21 2 0 0 1 17.98 58366 chr19 49621905 49621905 A G rs2232004 C19orf73 Synonymous SNV P125P 0.032 0.036 0.02 3 38 14 0.008 6 1 1 0 0 10.09 58367 chr9 24543296 24543296 C T rs984029105 IZUMO3 Synonymous SNV E211E 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 8.477 58368 chr19 49631698 49631698 G A rs76397153 PPFIA3 Synonymous SNV E105E 0.031 0.034 0.024 3 36 13 0.008 7 1 1 0 0 11.89 58369 chr4 6616056 6616056 C T rs61729241 MAN2B2 Nonsynonymous SNV T841M 0.025 0.029 0.044 14 29 11 0.036 13 0 0 1 0 23.2 58370 chr19 49632230 49632230 A G rs35298280 PPFIA3 Synonymous SNV L156L 0.031 0.01 0.037 7 36 4 0.018 11 1 0 1 0 8.39 58371 chr8 24256930 24256930 T C rs76140263 ADAMDEC1 Synonymous SNV R239R 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.073 58372 chr19 49641651 49641651 C T rs117880896 PPFIA3 Synonymous SNV P681P 0.029 0.034 0.007 3 34 13 0.008 2 0 1 0 0 14.84 58373 chr9 102677589 102677589 T C rs41305451 STX17 Nonsynonymous SNV I23T 0.081 0.096 0.037 40 95 37 0.103 11 6 1 0 3 23.4 58374 chr19 49652905 49652905 C T rs975221820 PPFIA3 Synonymous SNV P1152P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 12.6 58375 chr19 7986933 7986933 C G SNAPC2 Nonsynonymous SNV A129G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 58376 chr9 71114202 71114202 T G rs144017764 PGM5 Nonsynonymous SNV S513R 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 23.8 58377 chr9 33062128 33062128 G A rs2274764 SMU1 Synonymous SNV T183T 0.029 0.021 0.024 15 34 8 0.038 7 0 0 0 0 12.43 58378 chr9 104433274 104433274 C T GRIN3A Nonsynonymous SNV G474R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 30 58379 chr19 9059912 9059912 G A rs368168869 MUC16 Synonymous SNV L9178L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.785 58380 chr9 71844152 71844152 T C rs139354927 TJP2 Synonymous SNV D506D 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 Uncertain significance 8.56 58381 chr8 25720267 25720267 C T rs28454030 EBF2 Synonymous SNV K352K 0.009 0.013 0.01 2 10 5 0.005 3 0 0 0 0 Benign 12.25 58382 chr19 9067890 9067890 G T rs200135063 MUC16 Nonsynonymous SNV A6519E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.463 58383 chr19 5772897 5772897 C T rs78536254 CATSPERD Nonsynonymous SNV S621L 0.043 0.036 0.02 18 50 14 0.046 6 1 0 0 0 10.69 58384 chr9 107298444 107298444 C T rs41305445 OR13C3 Synonymous SNV L217L 0.129 0.122 0.133 50 151 47 0.128 39 9 0 3 3 9.653 58385 chr9 107299001 107299001 C A rs41304943 OR13C3 Nonsynonymous SNV G32C 0.127 0.125 0.119 50 149 48 0.128 35 8 1 3 3 19.97 58386 chr19 45150616 45150616 G A rs745682626 PVR Synonymous SNV A67A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.967 58387 chr4 71232496 71232496 C T rs77807337 SMR3A Nonsynonymous SNV P64S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.841 58388 chr19 57839203 57839203 G A ZNF543 Nonsynonymous SNV D125N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.821 58389 chr19 9073193 9073193 G C rs763778085 MUC16 Synonymous SNV V4751V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 58390 chr8 27361241 27361241 C T rs17057255 EPHX2 Nonsynonymous SNV R37C 0.02 0.018 0.017 10 24 7 0.026 5 0 0 0 1 12.85 58391 chr4 71389594 71389594 T C rs34803339 AMTN Nonsynonymous SNV S49P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 58392 chr19 8555991 8555991 C G rs749046246 PRAM1 Nonsynonymous SNV A543P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.53 58393 chr9 35736099 35736099 C T rs34745689 CREB3 Synonymous SNV N222N 0.007 0 0 6 8 0 0.015 0 0 0 0 0 Benign 4.57 58394 chr4 73149251 73149251 A G rs35864003 ADAMTS3 Nonsynonymous SNV S1074P 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign 5.889 58395 chr8 28206677 28206677 G A rs75444725 ZNF395 Synonymous SNV I465I 0.02 0.003 0.003 5 24 1 0.013 1 0 0 0 0 17.36 58396 chr4 73185147 73185147 C T rs35860396 ADAMTS3 Synonymous SNV E418E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 11.88 58397 chr4 73205253 73205253 G T rs7690711 ADAMTS3 Synonymous SNV G273G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.04 58398 chr9 111688828 111688828 C T rs2230788 ELP1 Synonymous SNV Q33Q 0.124 0.083 0.085 38 146 32 0.097 25 6 0 1 2 Benign 10.19 58399 chr8 28989938 28989938 G C KIF13B Synonymous SNV S943S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.11 58400 chr9 36669341 36669341 A G rs56176668 MELK Synonymous SNV K350K 0.008 0 0.014 10 9 0 0.026 4 0 0 0 0 4.922 58401 chr8 29202907 29202907 C T DUSP4 Nonsynonymous SNV C47Y 0.005 0.003 0 0 6 1 0 0 0 0 0 0 4.058 58402 chr4 73963837 73963837 T C rs73827469 ANKRD17 Synonymous SNV T1407T 0 0 0.007 0 0 0 0 2 0 0 0 0 4.239 58403 chr19 58600109 58600109 C T rs45544138 ZSCAN18 Nonsynonymous SNV A32T 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 8.24 58404 chr19 46145661 46145661 C T rs35384424 EML2-AS1 0.042 0.06 0.031 25 49 23 0.064 9 2 1 0 4 10.41 58405 chr19 8996460 8996460 A C rs115933306 MUC16 Nonsynonymous SNV D13704E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 11.71 58406 chr8 30921935 30921935 G A rs2230009 WRN Nonsynonymous SNV V114I 0.049 0.044 0.02 10 58 17 0.026 6 1 1 0 0 Benign 9.236 58407 chr9 113169198 113169198 - G SVEP1 Frameshift insertion P2895Afs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 58408 chr9 88270218 88270218 C T rs201333759 AGTPBP1 Synonymous SNV R361R 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 21.1 58409 chr8 32505633 32505633 G C rs35641374 NRG1 Nonsynonymous SNV V133L 0.076 0.063 0.058 25 89 24 0.064 17 1 0 0 0 Likely benign 13.04 58410 chr8 35093314 35093314 G T rs530295412 UNC5D Synonymous SNV A4A 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 Likely benign 16.62 58411 chr9 113221309 113221309 C T SVEP1 Nonsynonymous SNV G1136E 0.004 0 0 0 5 0 0 0 0 0 0 0 28.1 58412 chr9 71844140 71844140 T C TJP2 Synonymous SNV P502P 0.002 0.003 0 6 2 1 0.015 0 0 0 0 1 11 58413 chr19 51227323 51227323 C A rs141783525 CLEC11A Synonymous SNV T103T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.6 58414 chr19 58983344 58983344 C T rs534694901 ZNF324 Synonymous SNV A495A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.259 58415 chr19 605093 605093 G A rs55839339 HCN2 Synonymous SNV A363A 0.019 0.01 0 3 22 4 0.008 0 0 0 0 0 9.539 58416 chr9 114688677 114688677 G A rs17853855 UGCG Synonymous SNV T153T 0.028 0.016 0.024 10 33 6 0.026 7 0 0 1 1 14.22 58417 chr19 51506993 51506993 C T rs61752563 KLK9 Synonymous SNV A190A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 14.25 58418 chr8 42295022 42295022 G A rs111553899 SLC20A2 Synonymous SNV H336H 0.017 0.023 0.007 4 20 9 0.01 2 0 0 0 0 Benign 0.034 58419 chr4 77675925 77675925 G A rs61741104 SHROOM3 Nonsynonymous SNV R1430Q 0.054 0.065 0.048 20 63 25 0.051 14 2 1 2 0 Benign 9.252 58420 chr19 621456 621473 GCGGCAGGTGGGCCTCGG - rs748846799 POLRMT P742_P747del 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 58421 chr1 101005471 101005471 G C rs772352894 GPR88 Nonsynonymous SNV V317L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.79 58422 chr8 42742895 42742895 G A rs148611952 RNF170 Nonsynonymous SNV A38V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 21.6 58423 chr9 78547360 78547360 G A rs753996764 PCSK5 Synonymous SNV S86S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.228 58424 chr19 9009641 9009641 G A rs115200029 MUC16 Nonsynonymous SNV R13029C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 21.7 58425 chr19 47823810 47823810 A T rs201835088 C5AR1 Nonsynonymous SNV Q259L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 25.6 58426 chr19 9019315 9019315 A C rs796746912 MUC16 Synonymous SNV L12524L 0.043 0.031 0.003 14 51 12 0.036 1 0 0 0 0 0.018 58427 chr8 53574205 53574205 G A rs372856333 RB1CC1 Synonymous SNV H416H 0.011 0.01 0 0 13 4 0 0 1 0 0 0 6.171 58428 chr9 96429439 96429439 G A rs41297181 PHF2 Synonymous SNV K755K 0.022 0.021 0.017 10 26 8 0.026 5 0 0 0 0 9.907 58429 chr9 96717287 96717287 C T rs191789925 BARX1 Nonsynonymous SNV A48T 0.094 0.081 0.051 38 110 31 0.097 15 13 3 0 3 20.2 58430 chr1 10714221 10714221 C T rs115296720 CASZ1 Synonymous SNV K631K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 14.59 58431 chr4 79440523 79440523 G A rs768886770 FRAS1 Synonymous SNV V3476V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.486 58432 chr8 61765560 61765560 G A rs2068096 CHD7 Synonymous SNV E2092E 0.031 0.023 0.051 9 36 9 0.023 15 0 0 0 0 Benign 8.308 58433 chr8 62489334 62489334 C T rs16927574 ASPH Synonymous SNV A353A 0.072 0.07 0.095 24 84 27 0.062 28 4 1 2 1 11.34 58434 chr19 48565303 48565303 C T rs761021795 PLA2G4C Synonymous SNV E413E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.98 58435 chr9 99227724 99227724 C T rs142219564 HABP4 Synonymous SNV D206D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.72 58436 chr19 7521229 7521229 G C rs139103954 ARHGEF18 Synonymous SNV L465L 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 5.79 58437 chr19 48613763 48613763 G A rs138105821 PLA2G4C Nonsynonymous SNV R4C 0.025 0.008 0.024 14 29 3 0.036 7 0 0 0 1 4.28 58438 chr9 82323665 82323665 C T rs117550856 TLE4 Synonymous SNV A315A 0.036 0.029 0.02 10 42 11 0.026 6 1 0 0 0 13.17 58439 chr19 6901961 6901961 G C rs61733001 ADGRE1 Nonsynonymous SNV C145S 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 23.3 58440 chr9 100971114 100971114 G A rs41305493 TBC1D2 Synonymous SNV R202R 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 0.545 58441 chr19 48806094 48806094 C T rs35361179 CCDC114 Nonsynonymous SNV R329H 0.009 0.01 0.02 3 11 4 0.008 6 0 0 0 0 Benign 11.84 58442 chr19 52034887 52034887 C T rs199699519 SIGLEC6 Nonsynonymous SNV E6K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.2 58443 chr9 87570373 87570373 C T rs75380746 NTRK2 Synonymous SNV L677L 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign 14.2 58444 chr8 71646461 71646461 C T rs74975207 XKR9 Synonymous SNV C308C 0.043 0.029 0.037 15 51 11 0.038 11 0 0 0 1 1.609 58445 chr19 7975183 7975183 C T rs34562033 MAP2K7 Synonymous SNV G124G 0.03 0.026 0.02 9 35 10 0.023 6 3 0 0 0 15.54 58446 chr19 49090548 49090548 C T rs149116557 SULT2B1 Nonsynonymous SNV R78C 0.006 0.021 0.007 6 7 8 0.015 2 0 0 0 0 Likely benign 29.7 58447 chr9 101980335 101980335 G A rs56393253 ALG2 Nonsynonymous SNV R378C 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 33 58448 chr19 49113168 49113168 C T rs141803504 FAM83E Synonymous SNV L241L 0.007 0.005 0 8 8 2 0.021 0 0 0 0 0 15.07 58449 chr4 861166 861166 G A rs891675867 GAK Nonsynonymous SNV S738F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 58450 chr19 7712270 7712270 G A rs148868283 STXBP2 Synonymous SNV K520K 0.014 0 0.01 2 16 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 6.662 58451 chr19 5245977 5245977 G A rs61757816 PTPRS Synonymous SNV C253C 0.014 0.029 0.02 11 17 11 0.028 6 0 1 0 1 8.907 58452 chr8 77775910 77775910 A G rs187554888 ZFHX4 Synonymous SNV Q3320Q 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 0.324 58453 chr1 110740931 110740931 G A rs6685009 SLC6A17 Synonymous SNV E683E 0.022 0.013 0.014 10 26 5 0.026 4 0 0 0 0 8.343 58454 chr1 110766466 110766466 G A rs12411176 KCNC4 Nonsynonymous SNV C520Y 0.02 0.016 0.014 9 24 6 0.023 4 0 0 0 0 4.046 58455 chr8 80942341 80942341 C G rs78308259 MRPS28 Nonsynonymous SNV R48P 0.015 0.013 0.007 8 18 5 0.021 2 0 0 0 0 22.9 58456 chr4 88537420 88537420 C T rs111205185 DSPP Synonymous SNV S1202S 0 0 0.32 0 0 0 0 94 0 0 33 0 11.82 58457 chr19 8587411 8587411 C T rs201982814 MYO1F Nonsynonymous SNV V1020M 0.004 0.003 0.003 3 5 1 0.008 1 1 0 0 0 15.27 58458 chr8 86021932 86021932 T A rs16913589 LRRCC1 Nonsynonymous SNV H69Q 0.034 0.031 0.02 8 40 12 0.021 6 1 0 0 0 24.8 58459 chr19 5262979 5262979 G C rs118081237 PTPRS Synonymous SNV T191T 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 Benign 7.644 58460 chr8 86027418 86027418 A G rs3736038 LRRCC1 Nonsynonymous SNV T117A 0.043 0.034 0.027 8 51 13 0.021 8 1 0 0 0 0.003 58461 chr19 52825413 52825413 C T rs201847817 ZNF480 Stop gain R261X 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 58462 chr1 11106666 11106666 T C rs72550870 MASP2 Nonsynonymous SNV D120G 0.014 0.021 0.01 4 17 8 0.01 3 0 1 0 0 Conflicting interpretations of pathogenicity 27.2 58463 chr9 96860048 96860048 G A rs148734737 PTPDC1 Synonymous SNV P400P 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.105 58464 chr9 97062295 97062295 C T rs34433105 ZNF169 Nonsynonymous SNV S153L 0.034 0.042 0.051 8 40 16 0.021 15 0 0 0 0 6.356 58465 chr4 89013429 89013429 G T rs752456520 ABCG2 Nonsynonymous SNV T642K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 58466 chr8 89131038 89131038 C T rs61753716 MMP16 Synonymous SNV L254L 0.009 0.005 0.007 6 11 2 0.015 2 0 0 0 0 14.67 58467 chr19 8976309 8976309 G A rs373993469 MUC16 Synonymous SNV V14173V 0.003 0.003 0 3 3 1 0.008 0 1 0 0 0 6.184 58468 chr8 91657843 91657843 G A rs570814726 TMEM64 Synonymous SNV G97G 0.015 0.013 0.02 1 18 5 0.003 6 0 0 0 0 8.077 58469 chr4 89300241 89300241 C A rs61978650 HERC6 Synonymous SNV G56G 0.114 0.135 0.194 56 134 52 0.144 57 12 6 4 6 15.45 58470 chr9 126133160 126133160 C T rs145286619 CRB2 Nonsynonymous SNV R610W 0.008 0.005 0.02 2 9 2 0.005 6 0 0 0 0 Benign 24 58471 chr4 93511396 93511396 C T rs34144324 GRID2 Nonsynonymous SNV T68M 0.06 0.07 0.095 23 70 27 0.059 28 1 1 1 1 30 58472 chr9 100692330 100692330 A G rs35223978 HEMGN Synonymous SNV Y449Y 0.038 0.021 0.014 3 45 8 0.008 4 0 0 0 0 Benign 0.012 58473 chr9 100972970 100972970 G A rs141653495 TBC1D2 Synonymous SNV A87A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.133 58474 chr19 8468310 8468310 C T rs199957705 RAB11B Synonymous SNV I175I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.88 58475 chr19 49978979 49978979 C T rs139145933 FLT3LG Nonsynonymous SNV S22L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 58476 chr9 101797679 101797679 C G rs35494947 COL15A1 Synonymous SNV L756L 0.02 0.013 0.02 4 24 5 0.01 6 0 0 0 0 Benign 4.132 58477 chr19 50154459 50154459 G C rs142052897 SCAF1 Nonsynonymous SNV E271D 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 0.403 58478 chr4 985369 985369 G C rs143974931 SLC26A1 Nonsynonymous SNV C41W 0.013 0.008 0.01 8 15 3 0.021 3 0 0 0 0 22.8 58479 chr8 101287284 101287284 G A RNF19A Synonymous SNV P260P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.34 58480 chr8 101721705 101721705 G T rs201017624 PABPC1 Nonsynonymous SNV F409L 0.101 0.117 0.048 30 118 45 0.077 14 0 0 0 0 23.1 58481 chr5 10505467 10505467 A G rs62362463 LINC02213 0 0 0.279 0 0 0 0 82 0 0 15 0 3.265 58482 chr5 10505585 10505585 A G rs17816571 LINC02213 0 0 0.354 0 0 0 0 104 0 0 14 0 1.088 58483 chr5 1076312 1076312 G A rs368434483 SLC12A7 Synonymous SNV C596C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.612 58484 chr19 50412516 50412516 C T rs1984656 NUP62 Synonymous SNV T183T 0.012 0.016 0.031 14 14 6 0.036 9 0 0 0 0 Likely benign 11.45 58485 chr9 107298285 107298285 C T rs41312212 OR13C3 Synonymous SNV T270T 0.044 0.029 0.031 18 52 11 0.046 9 1 0 0 1 14.26 58486 chr5 108714681 108714681 A G rs35039318 PJA2 Synonymous SNV D169D 0.059 0.052 0.051 21 69 20 0.054 15 2 0 0 0 2.387 58487 chr5 108714936 108714936 T C PJA2 Synonymous SNV Q84Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.111 58488 chr1 116577919 116577919 T A rs41275548 SLC22A15 Synonymous SNV P352P 0.049 0.052 0.065 22 57 20 0.056 19 0 1 1 0 8.125 58489 chr8 105025696 105025696 C G rs756343731 RIMS2 Nonsynonymous SNV P863R 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 11.1 58490 chr5 109220429 109220429 G A rs34826583 LINC01848 0 0 0.412 0 0 0 0 121 0 0 26 0 2.681 58491 chr1 11718859 11718859 C T rs150816569 FBXO44 Nonsynonymous SNV R144C 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 9.071 58492 chr9 107599376 107599376 A G rs9282543 ABCA1 Nonsynonymous SNV V399A 0.022 0.01 0.003 10 26 4 0.026 1 0 0 0 1 Conflicting interpretations of pathogenicity 12.01 58493 chr1 11733846 11733846 C A rs148957324 FBXO6 Nonsynonymous SNV Q274K 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 0.001 58494 chr9 131019738 131019738 T C rs2240961 GOLGA2 Nonsynonymous SNV R890G 0.071 0.081 0.065 36 83 31 0.092 19 3 0 1 2 23.4 58495 chr19 50940938 50940938 G T rs35209148 MYBPC2 Nonsynonymous SNV A179S 0.042 0.039 0.041 21 49 15 0.054 12 2 0 0 1 8.431 58496 chr9 131027963 131027963 A G rs12335848 GOLGA2 Synonymous SNV S239S 0.069 0.07 0.065 34 81 27 0.087 19 3 0 1 2 1.064 58497 chr19 50945512 50945512 G A rs35951152 MYBPC2 Nonsynonymous SNV D282N 0.042 0.039 0.048 22 49 15 0.056 14 2 0 0 1 24.5 58498 chr1 117554411 117554411 G C rs117050713 CD101 Nonsynonymous SNV V222L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.948 58499 chr19 50957412 50957412 G A rs35215508 MYBPC2 Nonsynonymous SNV A629T 0.042 0.039 0.048 24 49 15 0.062 14 2 0 0 1 17.32 58500 chr1 11008102 11008102 G A rs1281018 C1orf127 Nonsynonymous SNV A558V 0.039 0.029 0.041 15 46 11 0.038 12 1 0 1 0 6.089 58501 chr8 110454337 110454337 G A rs202087705 PKHD1L1 Nonsynonymous SNV G1436R 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 28.7 58502 chr1 11008594 11008594 A T rs1281016 C1orf127 Nonsynonymous SNV V394D 0.036 0.026 0.034 15 42 10 0.038 10 1 0 0 0 18.39 58503 chr9 131671561 131671561 C G rs35266233 LRRC8A Synonymous SNV L706L 0.007 0.018 0.003 4 8 7 0.01 1 0 0 0 0 Benign 0.955 58504 chr9 119124960 119124960 G C rs149279887 PAPPA Synonymous SNV S1479S 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 5.482 58505 chr9 119448979 119448979 C T rs10983304 ASTN2 Nonsynonymous SNV E36K 0.038 0.042 0.054 26 45 16 0.067 16 0 1 0 0 7.199 58506 chr8 113249426 113249426 T C CSMD3 Synonymous SNV L3340L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.073 58507 chr9 123215959 123215959 C T rs144723485 CDK5RAP2 Synonymous SNV Q856Q 0.004 0.005 0.014 8 5 2 0.021 4 0 0 0 0 Conflicting interpretations of pathogenicity 3.483 58508 chr9 113457799 113457799 A G rs35176182 MUSK Nonsynonymous SNV S159G 0.125 0.122 0.146 65 147 47 0.167 43 9 4 3 7 Benign 5.412 58509 chr19 9084209 9084209 T C rs769255890 MUC16 Nonsynonymous SNV I2536V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.441 58510 chr19 51329141 51329141 C T rs201054965 KLK15 Nonsynonymous SNV V227I 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 14.52 58511 chr9 113459655 113459655 C T rs41279051 MUSK Synonymous SNV N179N 0.164 0.159 0.163 74 192 61 0.19 48 16 5 4 10 Benign 15.19 58512 chr9 113563143 113563143 G T rs578430 MUSK Nonsynonymous SNV V409L 0.032 0.052 0.061 17 38 20 0.044 18 0 2 1 0 Benign 0.015 58513 chr19 51330990 51330990 C G rs200999769 KLK15 Nonsynonymous SNV R41P 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 24.2 58514 chr8 120583047 120583047 A C rs61753743 ENPP2 Synonymous SNV L605L 0.009 0.016 0.003 3 11 6 0.008 1 0 0 0 0 0.001 58515 chr9 114089882 114089882 C T rs61748723 OR2K2 Nonsynonymous SNV G278R 0.055 0.047 0.082 37 64 18 0.095 24 0 0 1 2 24 58516 chr19 54672316 54672316 A G rs149646954 TMC4 Nonsynonymous SNV M184T 0.012 0.021 0.02 2 14 8 0.005 6 0 0 0 0 23.6 58517 chr8 120793332 120793332 T C rs28619538 TAF2 Synonymous SNV T738T 0.009 0.016 0.01 0 10 6 0 3 0 0 0 0 Benign 4.288 58518 chr1 11169420 11169420 G A rs41274506 MTOR Synonymous SNV D2485D 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 Benign 11.72 58519 chr8 121160121 121160121 C T rs760270804 COL14A1 Nonsynonymous SNV P14S 0.006 0.008 0 0 7 3 0 0 0 0 0 0 9.639 58520 chr9 133901752 133901752 C T rs45628035 LAMC3 Nonsynonymous SNV R152C 0.026 0.026 0.024 3 30 10 0.008 7 3 0 0 0 Benign 24.5 58521 chr9 125140206 125140206 G A rs3842788 PTGS1, PTGS1 Synonymous SNV Q41Q 0.037 0.026 0.048 13 44 10 0.033 14 0 0 0 0 10.88 58522 chr19 9297381 9297381 A C rs61733545 OR7D2 Synonymous SNV A308A 0.049 0.049 0.065 21 57 19 0.054 19 1 0 0 0 0.012 58523 chr8 121239515 121239515 G A rs61753754 COL14A1 Synonymous SNV T687T 0.023 0.018 0.014 2 27 7 0.005 4 0 0 0 0 Benign 12.83 58524 chr9 125240175 125240175 C T rs147391208 OR1J1 Nonsynonymous SNV E11K 0.027 0.023 0.031 12 32 9 0.031 9 0 0 0 0 22.7 58525 chr8 121500554 121500554 A G rs73705079 MTBP Nonsynonymous SNV T441A 0.007 0.01 0 0 8 4 0 0 0 0 0 0 0.057 58526 chr8 121528385 121528385 T C rs35511242 MTBP Synonymous SNV L734L 0.094 0.081 0.092 37 110 31 0.095 27 6 0 1 0 0.263 58527 chr9 125281550 125281550 T C rs758813140 OR1J4 Nonsynonymous SNV L44P 0 0 0 4 0 0 0.01 0 0 0 0 0 26 58528 chr19 9407202 9407202 G A rs202023274 ZNF699 Nonsynonymous SNV S293L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.26 58529 chr19 51628988 51628988 T C rs147995854 SIGLEC9 Nonsynonymous SNV S186P 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 0.089 58530 chr1 1221489 1221490 AA - rs555847974 SCNN1D K248Dfs*24 0.002 0.003 0 0 2 1 0 0 0 0 0 0 58531 chr1 12339639 12339639 C T rs777440194 VPS13D Nonsynonymous SNV L1512F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.95 58532 chr9 133987041 133987041 G A rs368676925 AIF1L Nonsynonymous SNV A51T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 58533 chr9 116019431 116019431 A G rs114287263 SLC31A1 Synonymous SNV L56L 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 1.425 58534 chr19 55451721 55451721 G A rs367827849 NLRP7 Nonsynonymous SNV R156W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 58535 chr1 1268344 1268344 T A rs142484921 TAS1R3 Nonsynonymous SNV L440Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.544 58536 chr19 51984798 51984798 C G rs199689750 CEACAM18 Synonymous SNV S184S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 5.132 58537 chr9 134497321 134497321 C T rs2274600 RAPGEF1 Synonymous SNV T589T 0.011 0.005 0.02 2 13 2 0.005 6 0 0 0 0 16.68 58538 chr1 1149104 1149104 C T rs555467061 TNFRSF4 Synonymous SNV P69P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 8.945 58539 chr1 103491461 103491461 T G rs12731843 COL11A1 Nonsynonymous SNV K276N 0.083 0.094 0.075 27 98 36 0.069 22 5 4 2 2 Benign 16.01 58540 chr9 135206709 135206709 G A SETX Nonsynonymous SNV A322V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 58541 chr1 103496792 103496792 A G rs71664966 COL11A1 Synonymous SNV I220I 0.083 0.094 0.061 27 98 36 0.069 18 5 4 2 2 Benign 11.33 58542 chr5 137144441 137144441 G A rs2228647 NPY6R 0 0 0.024 0 0 0 0 7 0 0 0 0 0.759 58543 chr9 135285802 135285802 G A rs111465967 CFAP77 Synonymous SNV E48E 0.035 0.044 0.031 22 41 17 0.056 9 1 0 0 2 12.21 58544 chr19 52146847 52146847 G A rs190074952 SIGLEC14 Nonsynonymous SNV A364V 0.003 0.01 0 2 3 4 0.005 0 0 1 0 0 9.433 58545 chr1 145589254 145589254 G A rs140457339 NUDT17 Synonymous SNV S58S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.6 58546 chr1 145589314 145589314 A G rs149964397 NUDT17 Synonymous SNV I38I 0.003 0.013 0.01 0 3 5 0 3 0 0 0 0 4.138 58547 chr8 133806796 133806798 AAG - PHF20L1 E76del 0.008 0.013 0 0 9 5 0 0 0 0 0 0 58548 chr9 127561725 127561725 C T rs368326922 OLFML2A Synonymous SNV A208A 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 17.79 58549 chr1 147091689 147091689 G A rs61751617 BCL9 Synonymous SNV P576P 0.018 0.021 0.02 8 21 8 0.021 6 0 0 0 0 2.521 58550 chr1 109268615 109268615 A G rs3006870 FNDC7 Nonsynonymous SNV N367S 0.003 0.003 0.017 1 3 1 0.003 5 0 0 2 0 24.3 58551 chr5 138209404 138209404 G T rs11744283 LRRTM2 Synonymous SNV L282L 0.011 0.005 0.02 8 13 2 0.021 6 0 0 1 0 0.026 58552 chr19 55948975 55948975 G A SHISA7 Synonymous SNV L325L 0.007 0 0 1 8 0 0.003 0 0 0 0 0 4.138 58553 chr9 123239643 123239643 A G rs41296081 CDK5RAP2 Nonsynonymous SNV L571P 0.026 0.026 0.003 7 30 10 0.018 1 1 0 0 0 Benign 29.8 58554 chr19 56000809 56000809 C T rs142097230 SSC5D Synonymous SNV D47D 0.026 0.008 0.027 11 30 3 0.028 8 0 0 0 0 10.18 58555 chr9 130474100 130474100 T C rs200892376 CFAP157 Nonsynonymous SNV I286T 0 0 0 4 0 0 0.01 0 0 0 0 0 22.5 58556 chr9 123675801 123675801 G A rs3747841 TRAF1 Synonymous SNV S48S 0.021 0.029 0.007 5 25 11 0.013 2 1 0 0 0 12.75 58557 chr9 123725971 123725971 C T rs12237774 C5 Synonymous SNV A1428A 0.019 0.026 0.01 5 22 10 0.013 3 1 0 1 0 19.79 58558 chr9 137328442 137328442 G A rs1805348 RXRA Synonymous SNV A360A 0.014 0.01 0.024 2 16 4 0.005 7 0 0 0 0 15.01 58559 chr5 139887565 139887565 T C rs114577754 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV N1249N 0 0 0.007 0 0 0 0 2 0 0 0 0 4.985 58560 chr1 150737220 150737220 A G rs41271951 CTSS Nonsynonymous SNV V7A 0.046 0.073 0.034 20 54 28 0.051 10 0 0 0 1 0.054 58561 chr9 123929920 123929920 G A rs145379701 CNTRL Nonsynonymous SNV E1385K 0.013 0.016 0 1 15 6 0.003 0 0 0 0 0 23.1 58562 chr19 56052282 56052282 C T rs73067164 SBK3 Nonsynonymous SNV R337K 0.019 0.018 0.054 11 22 7 0.028 16 0 0 0 0 14.14 58563 chr5 140027448 140027448 C T rs139482464 MIR3655 0 0 0.007 0 0 0 0 2 0 0 0 0 9.589 58564 chr19 56052400 56052400 G T rs35844194 SBK3 Nonsynonymous SNV L298M 0.032 0.018 0.034 13 37 7 0.033 10 1 0 0 0 7.865 58565 chr9 125148995 125148995 G A rs144142084 PTGS1 Nonsynonymous SNV R379H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.7 58566 chr5 140057535 140057535 G A rs2230361 HARS1 Synonymous SNV C82C 0.054 0.044 0.058 17 63 17 0.044 17 0 1 1 1 Benign 13.77 58567 chr5 140167220 140167220 A C rs3733712 PCDHA1 Nonsynonymous SNV N449H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 58568 chr1 151015816 151015816 G A rs144320596 BNIPL Nonsynonymous SNV G127S 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 32 58569 chr1 110151287 110151287 C T rs149421007 GNAT2 Nonsynonymous SNV A143T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Uncertain significance 33 58570 chr1 10720305 10720305 A G rs138985539 CASZ1 Nonsynonymous SNV V265A 0.02 0.018 0.003 4 24 7 0.01 1 0 0 0 0 Benign 0.001 58571 chr1 151131598 151131598 G A rs374820143 TNFAIP8L2 Nonsynonymous SNV R142H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 58572 chr19 56320763 56320763 G A rs146794456 NLRP11 Synonymous SNV L306L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 1.355 58573 chr8 142367246 142367246 G A rs36092215 GPR20 Nonsynonymous SNV R260C 0.046 0.055 0.02 11 54 21 0.028 6 1 1 0 0 22.5 58574 chr1 109394445 109394445 G A rs530225574 AKNAD1 Nonsynonymous SNV A281V 0.004 0 0 0 5 0 0 0 0 0 0 0 2.281 58575 chr1 120056982 120056982 G A rs144711345 HSD3B1 Nonsynonymous SNV R279H 0.015 0 0.003 10 18 0 0.026 1 0 0 0 0 4.709 58576 chr19 53116748 53116748 T C rs139303117 ZNF83 Nonsynonymous SNV N357S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.001 58577 chr5 140250095 140250095 A G rs185967358 PCDHA11 Synonymous SNV P469P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.002 58578 chr5 140263489 140263489 G A rs146827381 PCDHA13 Nonsynonymous SNV G546S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 8.786 58579 chr9 125486387 125486387 C T rs146545088 OR1L4 Nonsynonymous SNV A40V 0.014 0.023 0.014 5 17 9 0.013 4 0 0 0 0 0.013 58580 chr5 140480475 140480475 C T rs61739886 PCDHB3 Nonsynonymous SNV T81I 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 24.7 58581 chr9 131584631 131584631 C T rs2280844 ENDOG Synonymous SNV Y212Y 0.054 0.068 0.044 11 63 26 0.028 13 2 1 0 0 11.04 58582 chr1 109793273 109793273 C T rs201031007 CELSR2 Nonsynonymous SNV P191L 0.004 0 0 0 5 0 0 0 0 0 0 0 23.1 58583 chr1 1115503 1115503 T C rs111751804 TTLL10 Nonsynonymous SNV C24R 0.022 0.013 0.01 11 26 5 0.028 3 1 0 0 0 0.001 58584 chr19 53453530 53453530 G C rs138196750 ZNF816 Nonsynonymous SNV H500D 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 Likely benign 17.28 58585 chr19 53454087 53454087 T C rs140118973 ZNF816 Nonsynonymous SNV K314R 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 Likely benign 22.4 58586 chr5 140614307 140614307 G C rs184425682 PCDHB18P 0 0 0.014 0 0 0 0 4 0 0 0 0 0.373 58587 chr19 56669884 56669884 G A rs61736532 ZNF444 Nonsynonymous SNV G107R 0.009 0.01 0.014 3 10 4 0.008 4 0 0 0 0 0.038 58588 chr5 140762672 140762672 G C rs775672220 PCDHGA7 Nonsynonymous SNV R69T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 58589 chr5 140767492 140767497 TGCCAG - rs145222727 PCDHGB4 P15_V16del 0.029 0.021 0.044 9 34 8 0.023 13 0 1 0 1 58590 chr5 140774689 140774689 T C rs72790033 PCDHGA8 Nonsynonymous SNV F770S 0.004 0 0.02 3 5 0 0.008 6 0 0 0 0 25.1 58591 chr1 12726366 12726366 G A rs149204349 AADACL4 Nonsynonymous SNV E282K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.591 58592 chr9 132636920 132636920 C T rs35899714 USP20 Synonymous SNV H602H 0.081 0.091 0.116 25 95 35 0.064 34 3 0 2 1 17.16 58593 chr1 113162500 113162500 G A rs149653791 CAPZA1 Nonsynonymous SNV E12K 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 24 58594 chr19 53668697 53668697 T C rs45499997 ZNF665 Nonsynonymous SNV N349S 0.028 0.029 0.014 12 33 11 0.031 4 0 0 0 0 0.534 58595 chr5 141033838 141033838 G A rs143252437 ARAP3 Synonymous SNV P1438P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.19 58596 chr1 113257782 113257782 C T rs202014134 PPM1J Nonsynonymous SNV A48T 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 11 58597 chr1 13839914 13839914 G A rs775910726 LRRC38 Nonsynonymous SNV R59C 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 29 58598 chr19 5699145 5699145 G A rs373491173 LONP1 Synonymous SNV G330G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 58599 chr9 139699038 139699038 G A rs200507112 CCDC183 Nonsynonymous SNV D251N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 58600 chr1 15438828 15438841 TGTGTGTGTGTGTG - TMEM51-AS1 0.024 0.018 0 10 28 7 0.026 0 0 0 0 0 58601 chr1 14105886 14105886 G A rs201284354 PRDM2 Synonymous SNV Q331Q 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 0.027 58602 chr9 129856101 129856101 C T rs147237909 ANGPTL2 Nonsynonymous SNV D308N 0.008 0.013 0.003 0 9 5 0 1 0 0 0 0 26.4 58603 chr19 57286624 57286624 G A rs113812503 ZIM2 Nonsynonymous SNV T339M 0.012 0.01 0.017 2 14 4 0.005 5 0 0 0 0 15.84 58604 chr1 115272916 115272916 T C rs149300730 CSDE1 Nonsynonymous SNV N409S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.685 58605 chr1 145039594 145039594 T C rs111958438 PDE4DIP Nonsynonymous SNV T6A 0.017 0.008 0.024 5 20 3 0.013 7 0 0 0 0 7.115 58606 chr19 5748257 5748257 A G rs139627891 CATSPERD Nonsynonymous SNV I299V 0.014 0.016 0.034 10 17 6 0.026 10 0 0 0 0 0.001 58607 chr1 155171811 155171811 G A rs41264917 THBS3 Synonymous SNV I251I 0.011 0.021 0.007 5 13 8 0.013 2 0 0 0 0 14.66 58608 chr1 111891170 111891170 A C rs15396 PIFO Nonsynonymous SNV K64N 0.037 0.026 0.017 9 43 10 0.023 5 1 0 0 0 0.006 58609 chr19 54755955 54755955 C G rs3848614 LILRB5 Nonsynonymous SNV D431H 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 11.7 58610 chr5 148406198 148406198 C T rs140307699 SH3TC2 Nonsynonymous SNV R997Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.3 58611 chr9 134504631 134504631 G C rs200382304 RAPGEF1 Nonsynonymous SNV L251V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.94 58612 chr8 144942718 144942718 C A rs201781964 EPPK1 Nonsynonymous SNV E1568D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.173 58613 chr19 548612 548612 G A rs114537924 GZMM Nonsynonymous SNV A56T 0.02 0.036 0.027 14 24 14 0.036 8 0 0 0 1 0.151 58614 chr1 155912200 155912200 C T rs41264991 RXFP4 Nonsynonymous SNV R234W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.2 58615 chr1 15599021 15599021 C T rs6679905 FHAD1 Nonsynonymous SNV P99L 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 21 58616 chr9 135251366 135251366 G A rs1752676 TTF1 Nonsynonymous SNV A370V 0.009 0.01 0.01 5 11 4 0.013 3 0 0 0 0 9.462 58617 chr1 156021558 156021558 G A rs895851644 UBQLN4 Synonymous SNV L67L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.43 58618 chr5 149514363 149514363 A G rs2229560 PDGFRB Nonsynonymous SNV I130T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.7 58619 chr8 144997849 144997849 G A rs781878105 PLEC Nonsynonymous SNV A2069V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.21 58620 chr1 115053498 115053498 A G rs6691166 TRIM33 Nonsynonymous SNV V67A 0.035 0.029 0.034 15 41 11 0.038 10 1 0 0 1 10.19 58621 chr1 151380706 151380706 C T POGZ Nonsynonymous SNV G654S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 58622 chr5 150175004 150175004 T A rs369432252 SMIM3 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 58623 chr5 150323428 150323428 A G rs17800987 ZNF300P1 0 0 0.119 0 0 0 0 35 0 0 2 0 1.97 58624 chr1 115537367 115537367 A C rs61730058 SYCP1 Nonsynonymous SNV N893H 0.006 0.01 0.024 0 7 4 0 7 0 0 0 0 0.096 58625 chr1 152084405 152084405 C G rs76166158 TCHH Nonsynonymous SNV E430Q 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 11.6 58626 chr19 58639635 58639635 C G rs77572421 ZNF329 Synonymous SNV A412A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 58627 chr8 145058398 145058398 A G rs74677817 PARP10 Synonymous SNV L566L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.196 58628 chr19 5867086 5867086 C T rs189013086 FUT5 Synonymous SNV S217S 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 12.66 58629 chr1 156616602 156616602 C T BCAN Nonsynonymous SNV A34V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 58630 chr9 137711997 137711997 G A rs2228560 COL5A1 Synonymous SNV P1494P 0.033 0.023 0.044 20 39 9 0.051 13 0 0 0 0 Benign/Likely benign 13.68 58631 chr10 5435741 5435741 C T rs45492393 TUBAL3 Synonymous SNV V320V 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 9.806 58632 chr19 55817676 55817676 G A rs12973169 BRSK1 Synonymous SNV K649K 0.094 0.094 0.109 44 110 36 0.113 32 3 2 1 3 12.47 58633 chr1 15708557 15708557 G A rs35816204 FHAD1 Synonymous SNV S1330S 0.043 0.042 0.02 18 51 16 0.046 6 1 0 0 0 9.618 58634 chr19 55823344 55823344 G A rs12978445 BRSK1 Nonsynonymous SNV G749S 0.082 0.076 0.102 37 96 29 0.095 30 3 2 1 3 12.54 58635 chr1 1271853 1271853 G C rs113005319 DVL1 Nonsynonymous SNV P586R 0.016 0.008 0.01 13 19 3 0.033 3 0 0 0 1 0.431 58636 chr9 138585617 138585617 T C rs150576747 SOHLH1 Synonymous SNV P330P 0.007 0.016 0.014 2 8 6 0.005 4 0 0 0 0 0.008 58637 chr5 154065383 154065383 A - rs33982250 MIR1303 0 0 0.418 0 0 0 0 123 0 0 15 0 58638 chr1 158262061 158262061 C T rs142044323 CD1C Synonymous SNV G172G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 58639 chr1 158299307 158299307 C T rs61745679 CD1B Nonsynonymous SNV G247S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.4 58640 chr9 134395574 134395574 G A rs34954751 POMT1 Synonymous SNV R412R 0.03 0.023 0.027 16 35 9 0.041 8 0 0 0 1 Benign 12.09 58641 chr19 55872591 55872591 C T rs2124920 FAM71E2 Nonsynonymous SNV R202H 0.097 0.07 0.129 39 114 27 0.1 38 3 1 3 5 9.375 58642 chr1 158435406 158435406 T C rs139366634 OR10K1 Nonsynonymous SNV S19P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.59 58643 chr9 139252603 139252603 C T rs139501733 GPSM1 Synonymous SNV A144A 0.035 0.042 0.031 16 41 16 0.041 9 0 0 0 0 16.18 58644 chr5 156482234 156482234 G A rs201210672 HAVCR1 Synonymous SNV T119T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 58645 chr9 139276407 139276407 C T rs34569521 SNAPC4 Nonsynonymous SNV R729Q 0.103 0.107 0.085 40 121 41 0.103 25 7 5 1 4 20.2 58646 chr1 158517143 158517143 G A rs115504694 OR6Y1 Synonymous SNV T251T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.94 58647 chr9 139306467 139306467 C T rs10870144 PMPCA Synonymous SNV Y30Y 0.131 0.133 0.163 63 154 51 0.162 48 6 2 1 4 2.349 58648 chr1 158532605 158532605 C A rs115786820 OR6P1 Nonsynonymous SNV A264S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.52 58649 chr9 139324740 139324740 C T rs10870182 INPP5E Synonymous SNV P596P 0.096 0.102 0.133 43 113 39 0.11 39 6 1 0 0 Benign/Likely benign 16.39 58650 chr9 139326304 139326304 G A rs10870188 INPP5E Synonymous SNV H506H 0.095 0.102 0.136 43 112 39 0.11 40 6 1 0 0 Benign/Likely benign 1.203 58651 chr1 158532908 158532908 T C rs114056876 OR6P1 Nonsynonymous SNV I163V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.93 58652 chr1 118455209 118455209 C T rs765915543 GDAP2 Nonsynonymous SNV R138H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 58653 chr1 158533219 158533219 A C rs114956415 OR6P1 Nonsynonymous SNV M59R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.48 58654 chr9 139328551 139328551 T C rs10870199 INPP5E Synonymous SNV P324P 0.095 0.099 0.133 42 112 38 0.108 39 6 2 0 0 Benign/Likely benign 0.232 58655 chr1 158549082 158549082 A T rs61755876 OR10X1 Nonsynonymous SNV L203Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 58656 chr9 139368681 139368681 G A rs45459100 SEC16A Synonymous SNV S1129S 0.05 0.063 0.071 24 59 24 0.062 21 0 0 0 0 8.79 58657 chr9 139371234 139371234 G A rs10781497 SEC16A Synonymous SNV D278D 0.099 0.104 0.136 45 116 40 0.115 40 7 1 0 1 1.849 58658 chr1 158576472 158576472 C T rs76424590 OR10Z1 Nonsynonymous SNV L82F 0 0.005 0.003 0 0 2 0 1 0 0 0 0 25.2 58659 chr9 135523933 135523933 C T rs143806652 DDX31 Nonsynonymous SNV R354H 0.005 0.008 0 2 6 3 0.005 0 1 0 0 0 35 58660 chr1 158605747 158605747 C T rs61140046 SPTA1 Synonymous SNV Q1796Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.818 58661 chr1 145583938 145583938 C G rs17354559 PIAS3 Nonsynonymous SNV S390C 0.015 0.008 0.017 4 18 3 0.01 5 0 0 0 0 19.19 58662 chr5 157170787 157170787 C G rs749367595 LSM11 Nonsynonymous SNV S10W 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 58663 chr9 135919225 135919225 C A rs150056568 GTF3C5 Nonsynonymous SNV Q162K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 21.4 58664 chr5 160212590 160212590 T C rs13190543 ATP10B Nonsynonymous SNV T30A 0 0 0.207 0 0 0 0 61 0 0 9 0 0.367 58665 chr5 162868905 162868905 A C rs2069352 CCNG1 Nonsynonymous SNV N44H 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 14.9 58666 chr1 158724794 158724794 C T rs57046052 OR6K6 Synonymous SNV Y63Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.085 58667 chr9 710818 710818 A G rs61737970 KANK1 Nonsynonymous SNV I18V 0.016 0.023 0.003 5 19 9 0.013 1 0 0 0 0 0.001 58668 chr9 136507577 136507577 C T rs5322 DBH Synonymous SNV H245H 0.02 0.018 0.014 7 23 7 0.018 4 0 0 0 1 Benign 6.749 58669 chr9 136509370 136509370 G T rs4531 DBH Nonsynonymous SNV A318S 0.049 0.039 0.041 21 57 15 0.054 12 0 0 0 3 Benign 11.99 58670 chr9 136633699 136633699 G C rs61751477 VAV2 Nonsynonymous SNV I779M 0.032 0.031 0.044 12 38 12 0.031 13 0 0 1 0 23.4 58671 chr1 158813810 158813810 T A rs35417083 MNDA Nonsynonymous SNV S156R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.35 58672 chr9 139943498 139943498 G A rs374463317 ENTPD2 Synonymous SNV A393A 0.01 0.008 0 11 12 3 0.028 0 0 0 0 1 2.522 58673 chr9 136640116 136640116 G A rs56006146 VAV2 Synonymous SNV S682S 0.031 0.026 0.048 9 36 10 0.023 14 0 0 0 0 10.87 58674 chr10 16563000 16563000 T C C1QL3 Nonsynonymous SNV Y22C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 58675 chr9 2729475 2729475 C T rs41312842 KCNV2 Synonymous SNV D462D 0.027 0.034 0.037 13 32 13 0.033 11 0 0 0 0 Benign 13.61 58676 chr9 2729686 2729686 C G rs12352254 KCNV2 Nonsynonymous SNV L533V 0.027 0.039 0.044 13 32 15 0.033 13 0 0 0 0 Benign 0.539 58677 chr1 159043041 159043041 C T rs34479821 AIM2 Synonymous SNV E83E 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 Benign 13.26 58678 chr19 56717325 56717325 T G rs45544034 ZSCAN5C Nonsynonymous SNV C15G 0.041 0.034 0.02 15 48 13 0.038 6 0 0 0 0 0.003 58679 chr9 2831341 2831341 C T PUM3 Nonsynonymous SNV A174T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26 58680 chr1 156290656 156290656 T C rs11548200 CCT3 Nonsynonymous SNV I157V 0.051 0.049 0.024 19 60 19 0.049 7 0 1 0 1 23.9 58681 chr5 168690612 168690612 A G rs62376934 MIR585 0 0 0.517 0 0 0 0 152 0 0 52 0 1.636 58682 chr9 140094605 140094605 C A rs9411313 TPRN Nonsynonymous SNV A187S 0.026 0.01 0 8 31 4 0.021 0 12 2 0 2 Benign 0.002 58683 chr19 7927064 7927064 C T rs770000111 EVI5L Synonymous SNV G556G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 58684 chr10 17130184 17130184 G A rs201938886 CUBN Synonymous SNV D642D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.13 58685 chr1 1396238 1396238 G A ATAD3C Synonymous SNV A307A 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 10.7 58686 chr9 140128107 140128107 G A rs142918575 SLC34A3 Nonsynonymous SNV S260N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign/Likely benign 0.22 58687 chr9 5090524 5090524 G A rs777544455 JAK2 Nonsynonymous SNV R798Q 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 28.4 58688 chr9 5126343 5126343 G A rs41316003 JAK2 Nonsynonymous SNV R914H 0.01 0.016 0.003 4 12 6 0.01 1 0 0 0 0 Benign 26.4 58689 chr5 169535194 169535194 C T rs371025378 FOXI1 Nonsynonymous SNV P239L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 58690 chr19 8006059 8006059 T C rs35992331 TIMM44 Synonymous SNV Q23Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.003 58691 chr1 159922092 159922092 G A rs35541552 SLAMF9 Synonymous SNV N208N 0.042 0.023 0.065 11 49 9 0.028 19 1 1 1 0 0.619 58692 chr1 159922194 159922194 A G rs71628159 SLAMF9 Synonymous SNV D174D 0.043 0.023 0.061 11 50 9 0.028 18 1 1 1 0 0.007 58693 chr1 15654715 15654715 C T FHAD1-AS1 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 6.121 58694 chr5 170597190 170597190 G A rs36104512 RANBP17 Synonymous SNV E589E 0.068 0.034 0.078 25 80 13 0.064 23 4 0 0 1 10.73 58695 chr5 1708983 1708983 G A rs12523324 MIR4277 0 0 0.66 0 0 0 0 194 0 0 59 0 4.615 58696 chr1 160063017 160063017 G A rs765060403 IGSF8 Nonsynonymous SNV R337C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 58697 chr9 6250546 6250546 A G rs138513976 IL33 Nonsynonymous SNV K14R 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 7.358 58698 chr5 172110722 172110722 C T NEURL1B Nonsynonymous SNV S111L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 58699 chr5 172359509 172359509 G T rs144844076 ERGIC1 Synonymous SNV R204R 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 12.67 58700 chr1 160141532 160141532 C A rs61734682 ATP1A4 Synonymous SNV R613R 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 13.26 58701 chr19 8171068 8171068 G A rs7258713 FBN3 Synonymous SNV C1579C 0.015 0.01 0.014 4 18 4 0.01 4 0 0 0 0 9.74 58702 chr19 57175796 57175796 C T rs11881738 ZNF835 Synonymous SNV K257K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.18 58703 chr1 160321065 160321065 A G rs12239747 NCSTN Synonymous SNV L212L 0.052 0.036 0.065 17 61 14 0.044 19 3 0 1 0 Benign 1.769 58704 chr19 57175955 57175955 C A rs11882271 ZNF835 Synonymous SNV T204T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.53 58705 chr19 8182446 8182446 C A rs76321590 FBN3 Nonsynonymous SNV G1122V 0.013 0.01 0.01 4 15 4 0.01 3 0 0 0 0 17.77 58706 chr19 57328877 57328877 G A rs35291043 PEG3 Synonymous SNV H156H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 4.069 58707 chr5 175812257 175812257 G A rs35916027 NOP16 Nonsynonymous SNV R115C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 16.18 58708 chr9 139642999 139642999 G A rs111432548 LOC100128593 0.112 0.112 0.088 30 132 43 0.077 26 10 2 1 2 0.151 58709 chr5 176011444 176011444 C T rs115050587 CDHR2 Nonsynonymous SNV A721V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 23.4 58710 chr19 8319455 8319455 C T rs11881630 CERS4 Synonymous SNV A82A 0.018 0.029 0.031 7 21 11 0.018 9 1 0 1 0 8.596 58711 chr19 8320555 8320555 G A rs17159388 CERS4 Nonsynonymous SNV R119Q 0.018 0.031 0.031 7 21 12 0.018 9 1 0 1 0 33 58712 chr1 160917765 160917765 T C rs139105648 ITLN2 Nonsynonymous SNV N260S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.035 58713 chr1 161018422 161018422 C G rs61733353 ARHGAP30 Nonsynonymous SNV D620H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.566 58714 chr9 14662278 14662278 T C rs16932133 ZDHHC21 Synonymous SNV P3P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 4.694 58715 chr5 176734179 176734179 C T rs149685981 MXD3 Nonsynonymous SNV G175R 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 6.984 58716 chr9 139754349 139754349 G A rs780296587 MAMDC4 Nonsynonymous SNV A1069T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.061 58717 chr19 57867599 57867599 T C rs862708 ZNF304 Nonsynonymous SNV L121P 0.042 0.044 0.034 22 49 17 0.056 10 2 1 0 0 0.09 58718 chr5 176919607 176919607 C A rs113574636 PDLIM7 Nonsynonymous SNV E56D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 58719 chr9 139838363 139838363 C T rs202112452 FBXW5 Nonsynonymous SNV R58H 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 27.7 58720 chr10 3143673 3143673 G A rs41288715 PFKP Synonymous SNV G100G 0.053 0.057 0.027 15 62 22 0.038 8 2 0 0 0 3.789 58721 chr10 3146038 3146038 C T rs79051586 PFKP Synonymous SNV I147I 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 Benign 11.95 58722 chr1 154316453 154316453 C T rs140373193 ATP8B2 Nonsynonymous SNV R634C 0.012 0.003 0.003 4 14 1 0.01 1 0 0 0 0 24.3 58723 chr1 162469859 162469859 A G UHMK1 Nonsynonymous SNV Q54R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.761 58724 chr19 58089461 58089461 G A rs75440348 ZNF416 Synonymous SNV P13P 0.001 0 0.01 4 1 0 0.01 3 0 0 0 0 7.884 58725 chr9 17415873 17415873 A G rs200826065 CNTLN Nonsynonymous SNV T961A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.692 58726 chr5 178194296 178194296 T A rs60234391 AACSP1 0 0 0.082 0 0 0 0 24 0 0 5 0 6.239 58727 chr9 19576929 19576929 G A rs112508827 SLC24A2 Synonymous SNV N390N 0.013 0.023 0 2 15 9 0.005 0 0 1 0 0 8.177 58728 chr5 178224547 178224547 A G rs6877160 AACSP1 0 0 0.289 0 0 0 0 85 0 0 21 0 3.632 58729 chr1 154842202 154842202 - GCTGCTGCT KCNN3 Q80_P81insQQQ 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 58730 chr1 154996385 154996385 T G rs116667331 DCST2 Nonsynonymous SNV Y598S 0.009 0.008 0.003 8 11 3 0.021 1 0 0 0 1 15.9 58731 chr19 58199291 58199291 C T rs12611105 ZNF551 Nonsynonymous SNV R522W 0.01 0.01 0.003 4 12 4 0.01 1 0 0 0 0 23.8 58732 chr19 58490347 58490347 T C rs200197635 ZNF606 Synonymous SNV P477P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.172 58733 chr5 179251253 179251253 T C rs1012558582 SQSTM1 Synonymous SNV G201G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.014 58734 chr10 5951007 5951007 G A rs750785992 FBH1 Synonymous SNV L217L 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 11.13 58735 chr10 6019546 6019546 C T rs8177763 IL15RA Synonymous SNV G5G 0.01 0.008 0.003 6 12 3 0.015 1 1 0 0 0 Likely benign 9.262 58736 chr19 58861744 58861744 T C rs2241788 A1BG Nonsynonymous SNV H395R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.952 58737 chr9 34254463 34254463 C T KIF24 Nonsynonymous SNV C1341Y 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 29.5 58738 chr5 179287597 179287597 C G rs248253 LOC100996419 0 0 0.214 0 0 0 0 63 0 0 5 0 7.082 58739 chr19 58908276 58908276 G A rs184542349 RNF225 Nonsynonymous SNV A274T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 58740 chr5 180276925 180276925 T G rs1007502032 ZFP62 Nonsynonymous SNV K524Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 58741 chr1 1563434 1563434 C G rs376455318 MIB2 Nonsynonymous SNV I622M 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 23.7 58742 chr9 35561071 35561071 A T rs146446376 RUSC2 Synonymous SNV P564P 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 0.027 58743 chr19 58991831 58991831 G C rs61731808 ZNF446 Nonsynonymous SNV G364A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 58744 chr9 35608962 35608962 C T rs148341917 TESK1 Synonymous SNV P208P 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 9.539 58745 chr1 160252826 160252826 G A rs11550119 PEX19 Nonsynonymous SNV A85V 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 58746 chr1 160295402 160295402 C T rs758990058 COPA Synonymous SNV S179S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 17.21 58747 chr1 156450719 156450719 G A rs1185700 MEF2D Synonymous SNV P101P 0.189 0.201 0.139 74 222 77 0.19 41 21 7 3 11 14.66 58748 chr1 1564779 1564779 G A rs889515301 MIB2 Nonsynonymous SNV G849D 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 5.745 58749 chr1 156507054 156507054 C T rs138382649 IQGAP3 Nonsynonymous SNV R1114Q 0.009 0.003 0.003 7 10 1 0.018 1 0 0 0 0 24.6 58750 chr19 605090 605090 C T rs56279131 HCN2 Synonymous SNV S362S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 12.61 58751 chr1 16070844 16070844 C T rs761097888 TMEM82 Nonsynonymous SNV R176C 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 22.8 58752 chr1 153907306 153907306 - GCTGC rs375088543 DENND4B Frameshift insertion Q914Hfs*48 0.009 0 0 4 10 0 0.01 0 0 0 0 0 58753 chr9 35906583 35906583 - CCACCA rs79156963 HRCT1 H105_P106insHH 0.014 0.016 0 6 16 6 0.015 0 0 0 0 0 58754 chr5 32010445 32010445 G A rs139951158 PDZD2 Nonsynonymous SNV A422T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 58755 chr5 32053877 32053877 C T rs138367957 PDZD2 Synonymous SNV G596G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 58756 chr10 13699134 13699142 CGCCCCCCG - rs556055601 FRMD4A A507_G509del 0.014 0.018 0.031 11 17 7 0.028 9 0 0 2 0 58757 chr10 14862082 14862082 C G rs61738953 CDNF Nonsynonymous SNV W154S 0.054 0.055 0.037 23 63 21 0.059 11 2 0 0 2 33 58758 chr1 154960891 154960891 G A rs144986636 FLAD1 Nonsynonymous SNV R228H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.8 58759 chr1 157556046 157556046 G C rs139766122 FCRL4 Nonsynonymous SNV I349M 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 20.8 58760 chr1 157648543 157648543 T C rs2282284 FCRL3 Nonsynonymous SNV N721S 0.038 0.042 0.048 18 45 16 0.046 14 0 0 0 1 0.158 58761 chr10 5790757 5790757 C T TASOR2 Synonymous SNV H1710H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.93 58762 chr1 158299298 158299298 G A rs140569765 CD1B Synonymous SNV L250L 0.014 0.005 0.007 4 16 2 0.01 2 0 0 0 0 0.341 58763 chr19 7141775 7141775 G A rs2229431 INSR Synonymous SNV N853N 0.047 0.049 0.058 20 55 19 0.051 17 1 0 0 0 Benign 8.687 58764 chr10 6520981 6520981 C T rs17301189 PRKCQ Synonymous SNV T317T 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 Benign 14.2 58765 chr1 16272806 16272806 G A rs112062500 ZBTB17 Synonymous SNV C44C 0.008 0 0.014 2 9 0 0.005 4 0 0 0 0 12.87 58766 chr19 746409 746409 G A rs2238567 PALM Synonymous SNV A209A 0.015 0.013 0.017 4 18 5 0.01 5 0 0 0 0 8.29 58767 chr1 162824960 162824960 G A rs190249067 CCDC190 Synonymous SNV D168D 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 6.95 58768 chr10 48390752 48390752 C T rs146175391 RBP3 Synonymous SNV P42P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.852 58769 chr10 49392726 49392726 - TAGAAAAAT rs766850468 FRMPD2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 58770 chr9 74361144 74361144 C T rs369275561 CEMIP2 Nonsynonymous SNV V149M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.4 58771 chr1 17312592 17312592 G A rs15786 ATP13A2 Nonsynonymous SNV P1122L 0.025 0.029 0.044 8 29 11 0.021 13 0 0 0 0 Benign 15.37 58772 chr9 78947501 78947501 G A rs201074605 PCSK5 Nonsynonymous SNV E1548K 0.009 0.01 0.01 1 11 4 0.003 3 0 0 0 0 18.02 58773 chr5 3599791 3599791 G A rs367825706 IRX1 Synonymous SNV E243E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.236 58774 chr5 37169169 37169169 T C rs143147192 CPLANE1 Synonymous SNV Q2319Q 0.008 0.013 0.02 4 9 5 0.01 6 0 0 0 0 Benign/Likely benign 1.045 58775 chr1 165380027 165380027 C T rs185905 RXRG Synonymous SNV K152K 0.015 0.018 0.014 6 18 7 0.015 4 0 1 0 0 13.88 58776 chr5 37875682 37875682 C G rs80161909 GDNF-AS1 0.042 0.057 0.054 12 49 22 0.031 16 1 0 0 0 3.169 58777 chr19 757606 757606 T C rs3746174 MISP Synonymous SNV P220P 0.049 0.057 0.078 28 58 22 0.072 23 0 1 0 0 0.023 58778 chr10 12043790 12043790 T G rs11595168 UPF2 Synonymous SNV S513S 0.078 0.081 0.068 27 92 31 0.069 20 3 4 1 0 7.346 58779 chr19 7754194 7754194 C T rs8102872 FCER2 Nonsynonymous SNV R283Q 0.011 0.005 0 9 13 2 0.023 0 0 0 0 0 11.95 58780 chr1 167815030 167815030 A G rs12048517 ADCY10 Synonymous SNV I773I 0.043 0.026 0.027 13 51 10 0.033 8 0 1 0 0 0.527 58781 chr9 79938131 79938131 C T rs41289971 VPS13A Synonymous SNV R1954R 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 Benign/Likely benign 15.19 58782 chr19 7992126 7992126 G A rs11542188 TIMM44 Synonymous SNV Y435Y 0.066 0.063 0.071 18 77 24 0.046 21 1 0 2 0 Benign 9.55 58783 chr10 26377331 26377331 C T rs72787346 MYO3A Nonsynonymous SNV A520V 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 58784 chr1 159904270 159904270 C T rs34790966 IGSF9 Synonymous SNV V302V 0.015 0.016 0.01 7 18 6 0.018 3 0 0 0 0 11.13 58785 chr1 100340279 100340279 A G AGL Nonsynonymous SNV H332R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.763 58786 chr19 8000001 8000001 C T rs11542189 TIMM44 Synonymous SNV T114T 0.061 0.063 0.085 16 72 24 0.041 25 1 0 2 0 Benign 12.13 58787 chr1 17672615 17672615 T G PADI4 Nonsynonymous SNV M343R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.43 58788 chr5 428044 428044 C T rs72717408 AHRR Synonymous SNV S281S 0.019 0.013 0.02 5 22 5 0.013 6 0 0 0 0 11.74 58789 chr10 15014613 15014613 C A rs940880430 MEIG1 Synonymous SNV V80V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.59 58790 chr5 43066712 43066712 G A rs13167991 LOC100132356 0 0 0.126 0 0 0 0 37 0 0 2 0 3.988 58791 chr1 178492444 178492444 C T rs374633801 TEX35 Synonymous SNV Y206Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.604 58792 chr5 442438 442438 T A rs1056465 EXOC3-AS1 0 0 0.252 0 0 0 0 74 0 0 12 0 5.175 58793 chr5 442571 442571 A C rs56146525 EXOC3-AS1 0 0 0.262 0 0 0 0 77 0 0 12 0 1.652 58794 chr5 443059 443059 G T rs77101200 EXOC3-AS1 0 0 0.248 0 0 0 0 73 0 0 11 0 4.924 58795 chr5 443148 443148 T A rs2721029 EXOC3-AS1 0 0 0.551 0 0 0 0 162 0 0 75 0 6.123 58796 chr5 45695987 45695995 CCGCCGCCA - rs56064803 HCN1 G72_G74del 0.027 0.016 0.024 8 32 6 0.021 7 1 1 0 0 58797 chr1 179312009 179312009 T C rs143910632 SOAT1 Nonsynonymous SNV I233T 0.016 0.016 0.044 2 19 6 0.005 13 0 0 1 0 20 58798 chr10 55996608 55996608 T C rs41274634 PCDH15 Synonymous SNV P283P 0.009 0.016 0.02 0 10 6 0 6 0 0 0 0 Conflicting interpretations of pathogenicity 1.29 58799 chr1 169697268 169697268 A G rs141518098 SELE Synonymous SNV L404L 0.016 0.008 0 2 19 3 0.005 0 0 0 0 0 Benign 5.348 58800 chr1 169820962 169820962 G A rs74523449 C1orf112 Nonsynonymous SNV G427E 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 11.04 58801 chr10 16975162 16975162 G A rs770723197 CUBN Synonymous SNV T2016T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 10.65 58802 chr19 8186263 8186263 G A rs7247560 FBN3 Synonymous SNV D1030D 0.023 0.01 0.02 9 27 4 0.023 6 0 0 0 0 7.316 58803 chr9 95279986 95279986 G A rs147710026 ECM2 Nonsynonymous SNV P155L 0.005 0.008 0 0 6 3 0 0 0 0 0 0 29.9 58804 chr1 109242392 109242392 A G rs34748332 PRPF38B Nonsynonymous SNV K319R 0.009 0.016 0 7 11 6 0.018 0 0 0 0 1 12.9 58805 chr9 95396712 95396712 G A rs2277170 IPPK Nonsynonymous SNV L376F 0.041 0.07 0.037 17 48 27 0.044 11 1 1 1 0 22.1 58806 chr1 180013235 180013235 T G rs12124336 CEP350 Nonsynonymous SNV S1517A 0.031 0.013 0.041 6 36 5 0.015 12 3 0 0 0 17.25 58807 chr10 63851683 63851683 C G rs147521761 ARID5B Nonsynonymous SNV H578D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 58808 chr10 30625857 30625857 C A MTPAP Nonsynonymous SNV A219S 0.004 0 0 4 5 0 0.01 0 0 0 0 0 12.25 58809 chr1 16332731 16332731 G - SRARP E134Rfs*7 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 58810 chr5 54468124 54468124 A T rs35770269 MIR449C 0 0 0.252 0 0 0 0 74 0 0 5 0 7.183 58811 chr9 96860820 96860820 G A rs61755091 PTPDC1 Nonsynonymous SNV V658I 0.019 0.01 0.02 2 22 4 0.005 6 0 0 0 0 11.2 58812 chr10 18931433 18931433 C T rs61737266 NSUN6 Nonsynonymous SNV V43M 0.004 0 0 3 5 0 0.008 0 0 0 0 0 23.5 58813 chr1 181767596 181767598 GAG - rs755426393 CACNA1E E2129del 0 0.003 0 0 0 1 0 0 0 0 0 0 58814 chr19 8649788 8649788 C T rs80046653 ADAMTS10 Nonsynonymous SNV G552S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 14.08 58815 chr9 97062137 97062137 G A rs62620753 ZNF169 Synonymous SNV V100V 0.044 0.034 0.027 20 52 13 0.051 8 1 0 0 0 5.341 58816 chr9 97221514 97221514 A C rs776061575 MFSD14B Nonsynonymous SNV L447F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.54 58817 chr19 8670115 8670115 C T rs61750006 ADAMTS10 Nonsynonymous SNV E73K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 23.8 58818 chr5 54826721 54826721 A G rs113060814 RNF138P1 0 0 0.01 0 0 0 0 3 0 0 0 0 6.109 58819 chr5 54941617 54941617 A G rs35361432 SLC38A9 Synonymous SNV N326N 0.039 0.036 0.037 24 46 14 0.062 11 1 2 0 1 8.078 58820 chr1 182525175 182525175 A G rs757095039 RGSL1 Nonsynonymous SNV I1072V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.659 58821 chr19 8841793 8841793 C T rs61746164 OR2Z1 Nonsynonymous SNV L135F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.63 58822 chr5 55210702 55210702 C T rs17701253 IL31RA Synonymous SNV T569T 0.032 0.021 0.031 8 37 8 0.021 9 1 0 0 0 7.732 58823 chr5 55248148 55248148 T C IL6ST Nonsynonymous SNV I162M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 58824 chr1 183093911 183093911 C T rs35635292 LAMC1 Synonymous SNV C849C 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 15.4 58825 chr1 158943483 158943483 G A rs139161219 PYHIN1 Nonsynonymous SNV R469K 0.015 0 0.01 6 18 0 0.015 3 0 0 0 0 14.69 58826 chr1 183101582 183101582 A G rs61749262 LAMC1 Nonsynonymous SNV N1205S 0.017 0.029 0.017 11 20 11 0.028 5 0 1 0 1 10.83 58827 chr10 70987060 70987060 A G rs10823320 HKDC1 Nonsynonymous SNV D54G 0.049 0.049 0.048 10 58 19 0.026 14 1 0 0 0 23.7 58828 chr1 110211111 110211111 C T GSTM2 Nonsynonymous SNV T34M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.34 58829 chr1 167097279 167097280 AC - rs572127797 DUSP27 T971Rfs*3 0.003 0 0 2 4 0 0.005 0 0 0 0 0 58830 chr19 8997515 8997515 A G MUC16 Nonsynonymous SNV L13636P 0.049 0.06 0 24 58 23 0.062 0 0 0 0 0 0.543 58831 chr5 64881894 64881894 A T rs945584313 PPWD1 Nonsynonymous SNV E405D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 58832 chr1 168066374 168066374 G A rs139781021 GPR161 Synonymous SNV I79I 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 1.461 58833 chr5 64954243 64954243 C A rs768283426 TRAPPC13 Nonsynonymous SNV P42T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 58834 chr1 185119614 185119614 C T rs149481073 TRMT1L Synonymous SNV Q119Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.26 58835 chr1 1855346 1855346 C G rs759068125 CFAP74 Nonsynonymous SNV Q1419H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 58836 chr5 66459906 66459906 C T MAST4 Synonymous SNV G1372G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 58837 chr5 66460352 66460352 G A rs114551553 MAST4 Nonsynonymous SNV R1521K 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 31 58838 chr9 100961704 100961704 C T rs34769888 TBC1D2 Nonsynonymous SNV E456K 0.018 0.023 0.007 7 21 9 0.018 2 0 0 0 0 Benign 23.3 58839 chr9 100962627 100962627 G A rs199893959 TBC1D2 Synonymous SNV F369F 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 15 58840 chr9 100971024 100971024 G A rs148143158 TBC1D2 Synonymous SNV P232P 0.014 0.016 0.01 2 17 6 0.005 3 0 0 0 0 12.09 58841 chr1 169845128 169845128 G T rs56066424 SCYL3 Synonymous SNV A152A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.555 58842 chr5 68471247 68471247 G A rs1128761 CCNB1 Synonymous SNV L269L 0.111 0.104 0.122 32 130 40 0.082 36 2 4 2 3 10.63 58843 chr1 176833466 176833466 G A rs758760092 ASTN1 Nonsynonymous SNV T1288I 0.003 0 0 8 3 0 0.021 0 0 0 0 0 22.3 58844 chr1 160803892 160803892 C T rs139236348 CD244 Synonymous SNV T211T 0.007 0 0.003 0 8 0 0 1 0 0 0 0 9.787 58845 chr10 73046617 73046617 A G rs34957097 UNC5B Nonsynonymous SNV I242V 0.055 0.047 0.071 7 65 18 0.018 21 1 1 0 0 7.129 58846 chr1 171076935 171076935 C T rs1800822 FMO3 Synonymous SNV S84S 0.085 0.068 0.099 19 100 26 0.049 29 4 1 2 0 Benign 10.34 58847 chr10 73046625 73046625 C T rs7069294 UNC5B Synonymous SNV Y244Y 0.056 0.047 0.071 7 66 18 0.018 21 2 1 0 0 3.038 58848 chr10 48370783 48370783 G A rs782281616 ZNF488 Nonsynonymous SNV R84Q 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 3.622 58849 chr1 16133987 16133987 T C rs7417535 UQCRHL Nonsynonymous SNV Y53C 0.086 0.081 0.099 31 101 31 0.079 29 7 1 1 1 Benign 7.737 58850 chr10 31810679 31810679 A G rs141194628 ZEB1 Nonsynonymous SNV T732A 0.013 0.021 0.003 5 15 8 0.013 1 0 0 0 0 Benign 3.05 58851 chr1 16134072 16134072 C T rs61744357 UQCRHL Nonsynonymous SNV E25K 0.086 0.081 0.099 31 101 31 0.079 29 7 1 1 1 17.9 58852 chr1 16134129 16134129 C T rs61738972 UQCRHL Nonsynonymous SNV E6K 0.032 0.034 0.024 8 38 13 0.021 7 1 0 0 0 8.818 58853 chr1 113652940 113652940 G A rs775382438 LRIG2 Synonymous SNV T518T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.08 58854 chr1 19228971 19228971 G A rs146450609 ALDH4A1 Nonsynonymous SNV P16L 0.026 0.044 0.048 3 30 17 0.008 14 4 2 1 0 Benign/Likely benign 17.72 58855 chr9 107331644 107331644 C T OR13C8 Nonsynonymous SNV L66F 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 25.7 58856 chr1 173962104 173962104 T C RC3H1 Nonsynonymous SNV Q7R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 58857 chr9 107360758 107360758 T G OR13C5 Synonymous SNV R313R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.051 58858 chr1 174219702 174219702 C T rs142774633 RABGAP1L Synonymous SNV P232P 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 14.91 58859 chr10 78709083 78709083 G A rs41274568 KCNMA1 Synonymous SNV V734V 0.02 0.021 0.007 5 23 8 0.013 2 0 0 0 1 Conflicting interpretations of pathogenicity 14.01 58860 chr1 163313539 163313539 C T rs11802875 NUF2 Nonsynonymous SNV S229L 0.028 0.023 0.139 14 33 9 0.036 41 8 2 7 4 22.1 58861 chr1 197062222 197062222 A G rs138138436 ASPM Nonsynonymous SNV I1500T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.081 58862 chr10 54076118 54076118 G T rs143388912 DKK1 Nonsynonymous SNV S157I 0.003 0.005 0.01 4 3 2 0.01 3 0 0 0 0 15.93 58863 chr10 45939617 45939617 A G rs2229136 ALOX5 Synonymous SNV P576P 0.024 0.034 0.044 13 28 13 0.033 13 0 0 1 0 11.28 58864 chr10 55582905 55582905 G T rs10825114 PCDH15 Synonymous SNV P1487P 0.039 0.031 0.051 36 46 12 0.092 15 1 0 0 2 Benign/Likely benign 0.077 58865 chr10 45958676 45958676 G A rs17157825 MARCHF8 Synonymous SNV S337S 0.017 0.023 0.034 10 20 9 0.026 10 0 0 1 0 14.5 58866 chr10 45958881 45958881 A G rs2291429 MARCHF8 Nonsynonymous SNV L269S 0.022 0.029 0.034 13 26 11 0.033 10 0 0 1 0 1.142 58867 chr10 45959385 45959385 G A rs12769244 MARCHF8 Nonsynonymous SNV S101L 0.022 0.029 0.041 13 26 11 0.033 12 0 0 1 0 17.53 58868 chr10 60146061 60146061 T C rs78325627 TFAM Synonymous SNV S61S 0.032 0.013 0.051 23 37 5 0.059 15 0 0 0 0 Likely benign 8.206 58869 chr10 82276043 82276043 T C rs35179410 TSPAN14 Synonymous SNV I112I 0.011 0.008 0.003 2 13 3 0.005 1 1 0 0 0 6.914 58870 chr19 9073817 9073817 C T rs144982930 MUC16 Synonymous SNV G4543G 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 7.597 58871 chr9 113168932 113168932 C T rs771823091 SVEP1 Nonsynonymous SNV G2983E 0.009 0.005 0 0 11 2 0 0 0 0 0 0 28.3 58872 chr1 118479423 118479423 A C rs780952651 WDR3 Nonsynonymous SNV N138T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 58873 chr10 88419091 88419091 C T rs7911340 OPN4 Synonymous SNV S222S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 14.19 58874 chr10 88659788 88659788 G A rs11818239 BMPR1A Synonymous SNV P145P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 11.62 58875 chr10 89264736 89264736 G T MINPP1 Nonsynonymous SNV A22S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 58876 chr5 83433087 83433087 G A rs58219060 EDIL3 Synonymous SNV G137G 0.014 0.01 0.007 1 16 4 0.003 2 0 0 0 0 14.77 58877 chr10 89475596 89475596 A G rs150727538 PAPSS2 Synonymous SNV L287L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 7.888 58878 chr1 11918519 11918519 C T rs5229 NPPB Nonsynonymous SNV R47H 0.015 0.01 0.014 1 18 4 0.003 4 0 0 0 0 11.63 58879 chr5 86659294 86659294 A G rs145752649 RASA1 Nonsynonymous SNV Y528C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 58880 chr5 87968913 87968913 A - rs758467101 LINC00461 0 0 0.344 0 0 0 0 101 0 0 0 0 58881 chr5 87968953 87968953 C T rs3814424 LINC00461 0 0 0.184 0 0 0 0 54 0 0 2 0 8.963 58882 chr1 179966044 179966044 C T rs149644649 CEP350 Nonsynonymous SNV A251V 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 9.949 58883 chr1 12026355 12026355 A C rs2230898 PLOD1 Synonymous SNV A544A 0.095 0.073 0.065 31 112 28 0.079 19 6 0 0 3 Benign/Likely benign 4.649 58884 chr1 120468201 120468201 A T rs41313282 NOTCH2 Nonsynonymous SNV L1413H 0.014 0.005 0.007 4 16 2 0.01 2 0 0 0 0 Benign/Likely benign 9.443 58885 chr10 90537864 90537864 G C rs78574732 LIPN Nonsynonymous SNV R354S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 22.3 58886 chr1 12065841 12065841 C T rs1042837 MFN2 Synonymous SNV S523S 0.075 0.063 0.054 23 88 24 0.059 16 3 0 0 1 Benign/Likely benign 15.11 58887 chr10 90580238 90580238 C T rs11202862 LIPM Nonsynonymous SNV R418W 0.008 0.003 0 1 9 1 0.003 0 1 0 0 0 18 58888 chr10 90582744 90582744 C A rs7912706 ANKRD22 Nonsynonymous SNV R177I 0.008 0.003 0 1 9 1 0.003 0 1 0 0 0 31 58889 chr5 90106798 90106798 G T ADGRV1 Nonsynonymous SNV A5241S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 58890 chr1 12348340 12348340 T G rs749034754 VPS13D Nonsynonymous SNV S1899A 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 20.8 58891 chr5 9053945 9053945 C T rs257095 MIR4636 0 0 0.796 0 0 0 0 234 0 0 100 0 3.144 58892 chr19 9089205 9089205 C T rs367768036 MUC16 Synonymous SNV S870S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.659 58893 chr5 93722036 93722036 G A rs72771666 KIAA0825 Nonsynonymous SNV T1177M 0.03 0.039 0.034 12 35 15 0.031 10 0 1 1 0 8.014 58894 chr19 9204358 9204358 C T rs7259007 OR1M1 Synonymous SNV G146G 0.036 0.044 0.041 14 42 17 0.036 12 0 0 0 0 8.503 58895 chr5 94749757 94749757 C T rs76962324 FAM81B Nonsynonymous SNV R134C 0.016 0.021 0.027 7 19 8 0.018 8 0 0 0 1 35 58896 chr19 9225940 9225940 G A rs7246969 OR7G1 Nonsynonymous SNV S167F 0.052 0.065 0.085 20 61 25 0.051 25 0 0 2 1 22 58897 chr10 70992659 70992659 C T rs138133608 HKDC1 Synonymous SNV N122N 0 0 0 3 0 0 0.008 0 0 0 0 0 12.04 58898 chr19 9225973 9225973 G A rs7246980 OR7G1 Nonsynonymous SNV A156V 0.052 0.068 0.085 20 61 26 0.051 25 0 0 2 1 23.5 58899 chr5 95194571 95194571 T C rs13168014 LINC01554 0 0 0.612 0 0 0 0 180 0 0 56 0 0.014 58900 chr19 9226017 9226017 C A rs2217657 OR7G1 Nonsynonymous SNV W141C 0.034 0.044 0.024 14 40 17 0.036 7 0 0 0 0 0.007 58901 chr19 9226265 9226265 T C rs75711758 OR7G1 Nonsynonymous SNV M59V 0.034 0.044 0.037 14 40 17 0.036 11 0 0 0 0 23.7 58902 chr10 93390158 93390158 C T rs35530640 PPP1R3C Synonymous SNV E160E 0.015 0.018 0.017 9 18 7 0.023 5 0 0 0 1 10.01 58903 chr19 9449888 9449888 A G rs77267061 ZNF559 Nonsynonymous SNV D82G 0.064 0.063 0.068 21 75 24 0.054 20 2 0 0 0 23.1 58904 chr19 9639822 9639822 C T rs745424017 ZNF426 Nonsynonymous SNV R262Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.125 58905 chr1 183196688 183196688 T G rs760957428 LAMC2 Nonsynonymous SNV C442G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.7 58906 chr1 183497137 183497137 T C rs770102980 SMG7 Synonymous SNV H135H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.357 58907 chr1 183510207 183510207 A G rs368030706 SMG7 Nonsynonymous SNV I420V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.16 58908 chr10 71874013 71874013 C T rs200384144 AIFM2 Nonsynonymous SNV R348Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.1 58909 chr1 196965241 196965241 G A rs201084185 CFHR5 Nonsynonymous SNV E294K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 13.92 58910 chr1 172547459 172547459 G T rs114255403 SUCO Synonymous SNV V417V 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 11.81 58911 chr1 146736137 146736137 A G rs36008075 CHD1L Synonymous SNV Q59Q 0.037 0.021 0.024 11 43 8 0.028 7 1 0 0 0 7.329 58912 chr1 183920191 183920191 T G rs16861794 COLGALT2 Synonymous SNV T362T 0.033 0.034 0.051 15 39 13 0.038 15 0 0 0 0 10.45 58913 chr1 100361925 100361925 G A rs2230307 AGL Nonsynonymous SNV G1115R 0.019 0.029 0.024 12 22 11 0.031 7 1 0 1 0 Benign 34 58914 chr1 147095730 147095730 A G BCL9 Nonsynonymous SNV Q1084R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 58915 chr10 72434387 72434387 T C ADAMTS14 Nonsynonymous SNV L53P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.2 58916 chr1 17354297 17354297 A G rs33927012 SDHB Nonsynonymous SNV S163P 0.014 0.01 0.017 5 17 4 0.013 5 0 0 0 0 Conflicting interpretations of pathogenicity 14.04 58917 chr1 100515497 100515497 T C rs17121792 MFSD14A Synonymous SNV H39H 0.029 0.031 0.034 22 34 12 0.056 10 2 0 1 2 3.772 58918 chr1 203708710 203708710 G A rs142468420 ATP2B4 Nonsynonymous SNV E1116K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.6 58919 chr10 96121505 96121505 T C rs140289143 NOC3L Nonsynonymous SNV E45G 0.008 0.003 0.01 1 9 1 0.003 3 0 0 0 0 28.1 58920 chr6 10415006 10415006 G C rs654351 TFAP2A-AS1 0 0 0.595 0 0 0 0 175 0 0 60 0 10.7 58921 chr1 100609639 100609639 C T rs6681721 TRMT13 Synonymous SNV L253L 0.029 0.031 0.037 21 34 12 0.054 11 2 0 1 2 11.72 58922 chr1 197102632 197102632 T C rs201066146 ASPM Nonsynonymous SNV Y756C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign/Likely benign 26.8 58923 chr10 96484145 96484145 G A rs41286880 CYP2C18 Nonsynonymous SNV R276Q 0.021 0.013 0.014 7 25 5 0.018 4 1 0 0 0 20.8 58924 chr9 120475468 120475468 A G rs56070048 TLR4 Synonymous SNV K154K 0.016 0.008 0.007 9 19 3 0.023 2 0 0 0 0 Benign 0.058 58925 chr1 204378624 204378624 T C PPP1R15B Nonsynonymous SNV K639R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 58926 chr1 186057377 186057377 G A rs140049629 HMCN1 Synonymous SNV T3182T 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 Likely benign 14.63 58927 chr6 107420474 107420474 A C rs139589887 BEND3 Nonsynonymous SNV F6V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 20.3 58928 chr10 68687179 68687179 C T rs35733981 LRRTM3 Synonymous SNV L169L 0.016 0.021 0.007 4 19 8 0.01 2 0 0 1 0 8.269 58929 chr1 10386322 10386322 C T rs745644299 KIF1B Synonymous SNV A897A 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 18.87 58930 chr1 20072032 20072032 G T rs202123603 TMCO4 Synonymous SNV G290G 0.013 0.013 0 1 15 5 0.003 0 0 0 0 0 4.684 58931 chr9 124441035 124441035 C T rs201300206 DAB2IP Nonsynonymous SNV S40L 0.013 0.01 0 0 15 4 0 0 0 0 0 0 25.4 58932 chr6 109274418 109274418 G A rs41287540 ARMC2 Synonymous SNV A428A 0.04 0.049 0.037 10 47 19 0.026 11 1 0 0 0 9.382 58933 chr9 125007584 125007584 T C rs200837960 RBM18 Nonsynonymous SNV I122V 0.008 0.01 0 0 9 4 0 0 0 0 0 0 15.39 58934 chr1 201079344 201079344 G C rs12406479 CACNA1S Nonsynonymous SNV A69G 0.04 0.021 0.041 11 47 8 0.028 12 0 0 1 0 Benign 24.6 58935 chr6 109674055 109674055 C T rs11153174 CCDC162P 0 0 0.34 0 0 0 0 100 0 0 20 0 14.32 58936 chr6 109775361 109775361 G C MICAL1 Nonsynonymous SNV H13Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 58937 chr1 19202916 19202916 G A rs552705007 ALDH4A1 Nonsynonymous SNV P351S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.1 58938 chr10 73572538 73572538 G A rs140884994 CDH23 Nonsynonymous SNV R72H 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Uncertain significance 34 58939 chr1 201177210 201177210 A G rs145259930 IGFN1 Synonymous SNV A1063A 0.01 0.013 0 7 12 5 0.018 0 0 0 0 0 0.014 58940 chr1 193029046 193029046 C A rs41265201 UCHL5 Nonsynonymous SNV R28L 0.02 0.016 0.007 9 23 6 0.023 2 1 0 0 0 9.87 58941 chr10 73767924 73767924 C T rs564028722 CHST3 Synonymous SNV L379L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.845 58942 chr10 74767998 74767998 C G rs34162681 P4HA1 Synonymous SNV T511T 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 16.42 58943 chr1 152058209 152058209 T C rs200319700 TCHHL1 Nonsynonymous SNV N650S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 58944 chr6 111912641 111912641 G T rs139282334 TRAF3IP2 Nonsynonymous SNV P217T 0.009 0.005 0.01 6 11 2 0.015 3 1 0 0 0 Benign 14.03 58945 chr10 74923670 74923670 G T rs34275727 ECD Nonsynonymous SNV T9K 0.003 0 0 4 4 0 0.01 0 0 0 0 0 15.55 58946 chr6 112390565 112390565 A G rs17219737 CCN6 Synonymous SNV Q287Q 0.079 0.068 0.078 34 93 26 0.087 23 4 1 1 3 Likely benign 12.19 58947 chr10 71151988 71151988 A T HK1 Nonsynonymous SNV N683Y 0.005 0 0 7 6 0 0.018 0 0 0 0 0 25.6 58948 chr1 196309523 196309523 C T rs142546287 KCNT2 Synonymous SNV S527S 0.026 0.023 0.041 8 31 9 0.021 12 0 0 0 0 13.79 58949 chr1 20639345 20639345 C A rs61743984 VWA5B1 Synonymous SNV P52P 0.034 0.021 0.024 19 40 8 0.049 7 1 1 0 0 14.54 58950 chr1 152328471 152328471 C T rs143961355 FLG2 Synonymous SNV G597G 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 8.04 58951 chr1 109805568 109805568 T C rs202022169 CELSR2 Nonsynonymous SNV I1562T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 25.2 58952 chr6 116690849 116690849 C T rs9488914 LOC100287467 0 0 0.354 0 0 0 0 104 0 0 34 0 7.313 58953 chr10 71640274 71640274 G A rs144774788 COL13A1 Nonsynonymous SNV A130T 0.018 0.018 0.003 6 21 7 0.015 1 0 0 0 0 Benign 23.4 58954 chr10 75185860 75185862 TCC - rs755232369 MSS51 R259del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 58955 chr10 75407887 75407887 G T rs57006992 SYNPO2L Nonsynonymous SNV P284H 0.024 0.013 0.01 12 28 5 0.031 3 0 0 0 0 20.1 58956 chr10 75413947 75413947 T A rs143434981 SYNPO2L Nonsynonymous SNV H66L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.1 58957 chr10 75556500 75556502 CTT - rs764780365 ZSWIM8-AS1 0.001 0 0 2 1 0 0.005 0 0 0 0 0 58958 chr6 116953474 116953474 A G rs368369580 RSPH4A Nonsynonymous SNV E674G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.5 58959 chr10 75562523 75562523 T C rs73274599 NDST2 Nonsynonymous SNV I800V 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 14.52 58960 chr1 201974712 201974712 G C rs12712 RNPEP Synonymous SNV L317L 0.06 0.047 0.031 26 71 18 0.067 9 3 0 0 2 9.12 58961 chr1 153615820 153615820 G A rs74844193 CHTOP Nonsynonymous SNV R175H 0.012 0.005 0.007 3 14 2 0.008 2 0 0 0 0 21.4 58962 chr1 198704294 198704294 C T rs7540378 PTPRC Synonymous SNV G611G 0.104 0.12 0.143 50 122 46 0.128 42 4 2 1 3 10.78 58963 chr1 180886140 180886140 C T rs79485039 KIAA1614 Nonsynonymous SNV R301C 0.048 0.052 0.02 7 56 20 0.018 6 2 0 1 0 35 58964 chr1 209800219 209800219 T C LAMB3 Synonymous SNV G530G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.252 58965 chr10 77161101 77161106 CCGCCT - rs374168185 ZNF503 G26_G27del 0.009 0.005 0.003 8 10 2 0.021 1 0 0 0 1 58966 chr10 102016134 102016134 G A CWF19L1 Nonsynonymous SNV P130L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.72 58967 chr6 120336327 120336327 C A rs68035463 MIR3144 0 0 0.228 0 0 0 0 67 0 0 3 0 8.253 58968 chr10 81065938 81065938 C T rs148342874 ZMIZ1 Synonymous SNV D835D 0.005 0.01 0.014 3 6 4 0.008 4 0 0 0 0 15.54 58969 chr6 120336384 120336384 G A rs67106263 MIR3144 0 0 0.228 0 0 0 0 67 0 0 3 0 7.143 58970 chr1 201035429 201035429 G A rs16847623 CACNA1S Synonymous SNV S891S 0.02 0.016 0.017 20 23 6 0.051 5 0 0 0 0 Benign 14.56 58971 chr1 201046058 201046058 C T rs142356235 CACNA1S Nonsynonymous SNV S606N 0.005 0.005 0.01 2 6 2 0.005 3 0 0 1 0 Benign/Likely benign 26.8 58972 chr6 121491622 121491622 A G rs55813785 TBC1D32 Synonymous SNV A874A 0.012 0.013 0.02 6 14 5 0.015 6 0 0 0 0 20.2 58973 chr1 203652386 203652386 G A rs771059469 ATP2B4 Nonsynonymous SNV R18H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.012 58974 chr1 211848807 211848807 A C rs55635245 NEK2 Synonymous SNV A5A 0.055 0.052 0.024 20 65 20 0.051 7 1 2 0 0 Benign 5.785 58975 chr1 155058663 155058663 G A rs17723260 EFNA3 Nonsynonymous SNV V190M 0.151 0.12 0.16 45 177 46 0.115 47 7 1 2 2 25.4 58976 chr6 125229856 125229856 C T rs781734 RNF217-AS1 0 0 0.663 0 0 0 0 195 0 0 79 0 3.429 58977 chr1 183102632 183102632 G A rs34995260 LAMC1 Nonsynonymous SNV E1266K 0.004 0.01 0.007 2 5 4 0.005 2 0 0 0 0 Likely benign 16.41 58978 chr6 125230965 125230965 A G rs1761559 RNF217-AS1 0 0 0.741 0 0 0 0 218 0 0 87 0 0.867 58979 chr6 125231037 125231037 G A rs1761560 RNF217-AS1 0 0 0.65 0 0 0 0 191 0 0 83 0 6.266 58980 chr10 82098881 82098881 A T rs35605779 DYDC1 Nonsynonymous SNV V124D 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 0.003 58981 chr10 103558746 103558746 G C rs114282663 OGA Synonymous SNV T501T 0.03 0.026 0.01 3 35 10 0.008 3 0 0 0 0 2.684 58982 chr10 103899871 103899871 A G rs17114388 PPRC1 Nonsynonymous SNV S536G 0.029 0.023 0.014 4 34 9 0.01 4 0 0 0 0 0.004 58983 chr10 103901083 103901083 C G rs767991832 PPRC1 Nonsynonymous SNV P940A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.39 58984 chr1 155173095 155173095 C T rs200369709 THBS3 Synonymous SNV G105G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.43 58985 chr10 84738730 84738730 A G rs374586409 NRG3 Synonymous SNV P479P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 7.171 58986 chr1 212798443 212798443 G A rs144501668 FAM71A Nonsynonymous SNV R75H 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 23.8 58987 chr6 127768472 127768472 G A rs2236026 KIAA0408 Nonsynonymous SNV S331L 0.081 0.065 0.102 18 95 25 0.046 30 5 1 0 0 0.971 58988 chr9 131185483 131185483 A T CERCAM Nonsynonymous SNV M45L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24 58989 chr1 155450838 155450838 C T rs149565722 ASH1L Nonsynonymous SNV S608N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.58 58990 chr10 104230683 104230683 G C rs17094549 MFSD13A Synonymous SNV A171A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.684 58991 chr1 155629483 155629483 C G rs7539 YY1AP1 Nonsynonymous SNV E729Q 0.053 0.047 0.061 21 62 18 0.054 18 1 0 0 0 6.809 58992 chr10 104572881 104572881 T C rs17115061 WBP1L Synonymous SNV D295D 0.034 0.031 0.051 10 40 12 0.026 15 0 0 1 0 0.039 58993 chr6 129511373 129511373 T C rs2306220 LAMA2 Synonymous SNV C497C 0.014 0.016 0.024 2 16 6 0.005 7 0 0 0 0 Benign/Likely benign 5.276 58994 chr1 205492679 205492679 G A rs4623769 CDK18 Nonsynonymous SNV G67R 0.055 0.052 0.054 13 64 20 0.033 16 1 1 0 0 15.36 58995 chr9 131609731 131609731 G A rs138949483 KYAT1 Nonsynonymous SNV T26I 0.009 0.008 0.01 1 10 3 0.003 3 0 0 0 0 Benign 7.079 58996 chr1 156182816 156182816 G A rs146867902 PMF1, PMF1-BGLAP Nonsynonymous SNV A4T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 27.2 58997 chr10 76735607 76735607 C A rs769903041 KAT6B Nonsynonymous SNV S504R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 25.4 58998 chr9 131847002 131847002 C T rs140369009 DOLPP1 Synonymous SNV I44I 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 15.49 58999 chr6 131220709 131220709 C A rs150838163 EPB41L2 Synonymous SNV S386S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.9 59000 chr1 205884188 205884188 G T rs9438399 SLC26A9 Synonymous SNV T832T 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.158 59001 chr1 156206158 156206158 C T rs62001899 PMF1, PMF1-BGLAP Nonsynonymous SNV R81C 0.019 0.016 0.024 10 22 6 0.026 7 0 0 0 0 13.68 59002 chr9 132382699 132382699 C G rs146618124 C9orf50 Nonsynonymous SNV W52S 0.008 0.005 0 6 9 2 0.015 0 1 0 0 0 0.412 59003 chr9 132382702 132382702 T C rs141348351 C9orf50 Nonsynonymous SNV D51G 0.008 0.008 0 6 9 3 0.015 0 1 0 0 0 0.001 59004 chr6 132006568 132006568 C A ENPP3 Nonsynonymous SNV F395L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 59005 chr10 87966282 87966282 G A rs143664937 GRID1 Nonsynonymous SNV P120L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 59006 chr6 132206079 132206079 C T rs28933977 ENPP1 Nonsynonymous SNV R774C 0.03 0.026 0.02 11 35 10 0.028 6 1 0 0 0 Benign/Likely benign 34 59007 chr10 105816862 105816862 C T rs149983875 COL17A1 Nonsynonymous SNV G446S 0.008 0.005 0.014 2 9 2 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 7.912 59008 chr10 89264847 89264847 G A rs146209573 MINPP1 Nonsynonymous SNV V59M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.5 59009 chr6 134142442 134142442 A G rs17062904 LINC01312 0 0 0.265 0 0 0 0 78 0 0 14 0 1.493 59010 chr6 134436078 134436078 G A rs73556745 HMGA1P7 0 0 0.126 0 0 0 0 37 0 0 2 0 0.064 59011 chr6 134436262 134436262 G C rs75616547 HMGA1P7 0 0 0.122 0 0 0 0 36 0 0 1 0 2.533 59012 chr6 134436296 134436296 G A rs76686063 HMGA1P7 0 0 0.122 0 0 0 0 36 0 0 1 0 6.17 59013 chr6 134436347 134436347 C G rs76082410 HMGA1P7 0 0 0.112 0 0 0 0 33 0 0 1 0 2.202 59014 chr6 134493397 134493397 G A rs1057293 SGK1 Synonymous SNV D196D 0.046 0.06 0.051 19 54 23 0.049 15 1 0 0 2 9.668 59015 chr6 134786163 134786163 A G rs9402608 LINC01010 0 0 0.061 0 0 0 0 18 0 0 0 0 2.477 59016 chr1 208073205 208073205 C A rs35359362 CD34 Nonsynonymous SNV V75L 0.01 0.01 0.014 5 12 4 0.013 4 0 0 0 0 0.758 59017 chr1 156627996 156627996 T C rs2298135 BCAN Synonymous SNV H790H 0.056 0.06 0.071 20 66 23 0.051 21 1 1 1 0 3.933 59018 chr6 136590640 136590640 A C rs62431286 BCLAF1 Nonsynonymous SNV S716R 0.006 0.01 0.054 3 7 4 0.008 16 0 0 0 0 22.6 59019 chr6 136590698 136590698 C T rs62431287 BCLAF1 Nonsynonymous SNV R697H 0.006 0.008 0.031 1 7 3 0.003 9 0 0 0 0 Benign 29.8 59020 chr1 203020946 203020946 A G rs759684492 PPFIA4 Nonsynonymous SNV T521A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.001 59021 chr6 136590712 136590712 C T rs62431288 BCLAF1 Synonymous SNV R692R 0.004 0.005 0.031 1 5 2 0.003 9 0 0 0 0 11.69 59022 chr1 20964545 20964545 G A PINK1 Nonsynonymous SNV A200T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.015 59023 chr1 116675909 116675909 A G rs74884121 MAB21L3 Nonsynonymous SNV T338A 0.033 0.057 0.044 7 39 22 0.018 13 0 1 1 0 0.002 59024 chr1 220341006 220341006 C T rs759498054 RAB3GAP2 Nonsynonymous SNV D940N 0 0.003 0 0 0 1 0 0 0 0 0 0 35 59025 chr10 112660249 112660249 G C BBIP1 Nonsynonymous SNV L25V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 59026 chr6 139013015 139013015 G A rs9321669 FLJ46906 0 0 0.184 0 0 0 0 54 0 0 5 0 7.959 59027 chr6 139017815 139017815 A G rs9399249 FLJ46906 0 0 0.527 0 0 0 0 155 0 0 38 0 1.579 59028 chr1 117560036 117560036 G A rs17235766 CD101 Nonsynonymous SNV R518Q 0.014 0.01 0.014 7 16 4 0.018 4 1 0 0 0 7.004 59029 chr6 139017832 139017832 C T rs9399250 FLJ46906 0 0 0.177 0 0 0 0 52 0 0 5 0 0.607 59030 chr1 203455902 203455902 A C rs9439 PRELP Nonsynonymous SNV N348H 0.031 0.029 0.054 21 36 11 0.054 16 0 0 1 1 12.34 59031 chr6 139164272 139164272 C T rs374082032 ECT2L Synonymous SNV L167L 0 0 0.01 0 0 0 0 3 0 0 0 0 13.18 59032 chr1 1567614 1567614 G A rs979717776 MMP23B Nonsynonymous SNV R6H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.007 59033 chr1 1956488 1956488 T C GABRD Nonsynonymous SNV I59T 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 19 59034 chr10 91497207 91497207 A G rs78963463 KIF20B Nonsynonymous SNV N870S 0.003 0 0.003 1 4 0 0.003 1 1 0 0 0 0.001 59035 chr10 91497912 91497912 A G rs79579856 KIF20B Nonsynonymous SNV K1105R 0.003 0 0.003 1 4 0 0.003 1 1 0 0 0 0.001 59036 chr10 92631778 92631778 G A rs11544145 RPP30 Nonsynonymous SNV G12D 0.03 0.036 0.044 8 35 14 0.021 13 2 0 0 0 4.571 59037 chr1 118166379 118166379 G A rs149654076 TENT5C Nonsynonymous SNV A297T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 not provided 16.25 59038 chr6 143091063 143091063 C G rs202211977 HIVEP2 Nonsynonymous SNV V1605L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.869 59039 chr6 143093527 143093527 T C rs147571754 HIVEP2 Synonymous SNV S783S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.186 59040 chr10 90695243 90695243 G A rs3781212 ACTA2-AS1 0.016 0.016 0.01 8 19 6 0.021 3 0 0 0 0 Benign 3.331 59041 chr1 204438205 204438205 C T rs146926130 PIK3C2B Synonymous SNV S242S 0.001 0 0 5 1 0 0.013 0 0 0 0 0 6.698 59042 chr1 205028229 205028229 C T rs142502980 CNTN2 Nonsynonymous SNV L169F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 59043 chr10 95441272 95441272 G A rs11187583 FRA10AC1 Nonsynonymous SNV S251F 0.114 0.073 0.126 51 134 28 0.131 37 13 2 4 5 28.8 59044 chr1 158449749 158449749 A G rs61739693 OR10R2 Nonsynonymous SNV M28V 0.029 0.031 0.037 11 34 12 0.028 11 0 0 0 0 7.525 59045 chr6 148792617 148792617 A G rs1883625 SASH1 Synonymous SNV G119G 0.101 0.104 0.116 28 118 40 0.072 34 3 2 2 1 9.779 59046 chr9 135204010 135204010 T C rs61742937 SETX Nonsynonymous SNV K992R 0.026 0.042 0.014 10 30 16 0.026 4 0 0 0 0 Benign 3.054 59047 chr1 158592781 158592781 G A rs75931146 SPTA1 Synonymous SNV L2038L 0.04 0.042 0.041 16 47 16 0.041 12 1 0 0 0 Benign 3.917 59048 chr9 135554962 135554962 G A rs61998251 GTF3C4 Synonymous SNV S652S 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 0.063 59049 chr1 158592847 158592847 G A rs78394850 SPTA1 Nonsynonymous SNV R2016C 0.04 0.042 0.041 16 47 16 0.041 12 1 0 0 0 Benign 29.6 59050 chr1 158592901 158592901 C G rs77877855 SPTA1 Nonsynonymous SNV A1998P 0.04 0.042 0.041 16 47 16 0.041 12 1 0 0 0 Benign 24.5 59051 chr1 158604391 158604391 T C rs16830483 SPTA1 Nonsynonymous SNV N1836S 0.04 0.042 0.041 16 47 16 0.041 12 1 0 0 0 Benign 0.27 59052 chr9 136198932 136198932 G C rs140866414 SURF6 Nonsynonymous SNV R287G 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 18.01 59053 chr10 119003564 119003564 T G rs363387 SLC18A2 Synonymous SNV T68T 0.083 0.091 0.068 31 98 35 0.079 20 6 0 0 1 0.044 59054 chr10 95993979 95993979 G A rs61751496 PLCE1 Synonymous SNV V400V 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign 9.387 59055 chr1 20066380 20066380 C A rs41303893 TMCO4 Synonymous SNV V372V 0.018 0.023 0.024 1 21 9 0.003 7 0 0 0 0 18.92 59056 chr1 20072082 20072082 C T rs35760408 TMCO4 Nonsynonymous SNV G274S 0.018 0.023 0.024 1 21 9 0.003 7 0 0 0 0 29.2 59057 chr1 20073019 20073019 C T rs34281331 TMCO4 Synonymous SNV A229A 0.019 0.023 0.024 1 22 9 0.003 7 0 0 0 0 13.74 59058 chr10 120931928 120931928 C A rs11554923 PRDX3 Nonsynonymous SNV G173C 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 35 59059 chr1 216011349 216011349 G A rs576236830 USH2A Nonsynonymous SNV R3119C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.8 59060 chr6 152453291 152453291 G A rs35591210 SYNE1 Nonsynonymous SNV T865I 0.063 0.06 0.054 25 74 23 0.064 16 0 1 0 1 Benign 14.97 59061 chr6 152529122 152529122 G A rs34630198 SYNE1 Synonymous SNV L7532L 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 14.73 59062 chr1 216143987 216143987 C A rs199840367 USH2A Nonsynonymous SNV G2313C 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 34 59063 chr1 1309405 1309405 T C rs150194697 AURKAIP1 Nonsynonymous SNV Q158R 0.017 0.016 0.007 12 20 6 0.031 2 0 0 0 0 0.001 59064 chr6 152711428 152711428 C T rs151091241 SYNE1 Nonsynonymous SNV V2729I 0.015 0.016 0.007 9 18 6 0.023 2 0 1 0 0 Benign/Likely benign 0.703 59065 chr1 226041489 226041489 G A rs61753643 TMEM63A Synonymous SNV C546C 0.022 0.021 0.017 4 26 8 0.01 5 0 0 0 0 7.366 59066 chr6 152847284 152847284 A G rs139156106 SYNE1 Synonymous SNV D52D 0.017 0.013 0.01 7 20 5 0.018 3 0 1 0 0 Benign/Likely benign 0.726 59067 chr1 159825862 159825862 C T rs150813505 VSIG8 Nonsynonymous SNV R261H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 59068 chr1 145530990 145530990 G A rs193013948 ITGA10 Nonsynonymous SNV R98Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 26.4 59069 chr6 15468876 15468876 C G rs7768621 JARID2 Synonymous SNV T27T 0.097 0.096 0.139 36 114 37 0.092 41 4 3 2 0 12.13 59070 chr9 136594913 136594913 C T rs137999690 SARDH Nonsynonymous SNV V297I 0.006 0.005 0 0 7 2 0 0 0 0 0 0 26.7 59071 chr1 145581455 145581455 C T rs114124194 PIAS3 Synonymous SNV L346L 0.004 0.016 0 4 5 6 0.01 0 0 0 0 0 14.01 59072 chr1 22186489 22186489 T C rs961373575 HSPG2 Nonsynonymous SNV Q1675R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.083 59073 chr1 212120045 212120045 G A rs41275374 INTS7 Synonymous SNV H724H 0.007 0.008 0.017 6 8 3 0.015 5 0 0 0 0 7.598 59074 chr1 2126139 2126139 C G rs6662296 FAAP20 Nonsynonymous SNV R17P 0.145 0.188 0.007 66 170 72 0.169 2 85 36 1 33 13.23 59075 chr6 159462416 159462416 G A TAGAP Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.602 59076 chr9 138664688 138664688 C T rs377516058 KCNT1 Synonymous SNV P667P 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Likely benign 12.24 59077 chr6 159653631 159653631 C A rs199926859 FNDC1 Nonsynonymous SNV P696Q 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 22.6 59078 chr9 138664762 138664762 C T rs61744696 KCNT1 Nonsynonymous SNV T692M 0.037 0.021 0.003 10 43 8 0.026 1 1 0 0 0 Benign 17.27 59079 chr10 101964267 101964267 C T rs2862988 CHUK Synonymous SNV G501G 0.016 0.016 0.014 9 19 6 0.023 4 0 0 0 0 Benign 14.31 59080 chr1 150997094 150997094 A G rs745466022 PRUNE1 Nonsynonymous SNV T115A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 59081 chr9 139256468 139256468 C G rs3812552 DNLZ Nonsynonymous SNV S178T 0.059 0.055 0.068 32 69 21 0.082 20 2 1 1 0 22.8 59082 chr1 20233051 20233051 A G rs2298110 OTUD3 Nonsynonymous SNV N321S 0.009 0.016 0.007 2 10 6 0.005 2 0 0 0 0 0.001 59083 chr1 20233086 20233086 G A rs10916668 OTUD3 Nonsynonymous SNV A333T 0.04 0.063 0.034 13 47 24 0.033 10 0 0 0 0 19.46 59084 chr9 139256577 139256577 C T rs147703592 DNLZ Nonsynonymous SNV E142K 0.009 0.013 0 7 11 5 0.018 0 0 0 0 0 23 59085 chr1 151105831 151105831 T C rs146921438 SEMA6C Nonsynonymous SNV E633G 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 26.2 59086 chr6 160182617 160182617 C T rs2273818 SOD2-OT1 0 0 0.201 0 0 0 0 59 0 0 6 0 6.278 59087 chr1 216166454 216166454 T G rs41277212 USH2A Nonsynonymous SNV E2238A 0.003 0.005 0.01 4 4 2 0.01 3 0 0 0 0 Benign 27.1 59088 chr10 102268787 102268787 T C rs760564485 SEC31B Nonsynonymous SNV M158V 0.003 0 0 0 4 0 0 0 0 0 0 0 10.42 59089 chr6 160206716 160206716 T C rs3818298 SNORA29 0 0 0.19 0 0 0 0 56 0 0 6 0 15.82 59090 chr1 223971862 223971862 C T rs61749335 TP53BP2 Synonymous SNV A1106A 0.029 0.016 0.014 8 34 6 0.021 4 2 0 0 0 16.5 59091 chr1 151501841 151501841 C G rs12044926 CGN Nonsynonymous SNV Q638E 0.025 0.013 0.031 7 29 5 0.018 9 1 0 0 0 9.204 59092 chr9 139298580 139298580 C T rs1131992 ENTR1 Nonsynonymous SNV V306M 0.093 0.086 0.126 46 109 33 0.118 37 4 1 1 1 13.93 59093 chr1 151502427 151502427 C T rs34834099 CGN Nonsynonymous SNV R717W 0.023 0.036 0.02 13 27 14 0.033 6 2 0 0 1 29.3 59094 chr6 160471555 160471555 C T rs756634162 IGF2R Synonymous SNV T855T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 59095 chr1 151751274 151751274 C G rs17853082 TDRKH Nonsynonymous SNV G257A 0.029 0.016 0.024 5 34 6 0.013 7 0 0 0 0 21 59096 chr1 162724471 162724471 T C rs138537887 DDR2 Synonymous SNV D81D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.858 59097 chr6 160514283 160514283 A G rs80254170 LOC729603 0 0 0.065 0 0 0 0 19 0 0 0 0 1.086 59098 chr9 139348749 139348749 G A rs79974534 SEC16A Nonsynonymous SNV A1963V 0.034 0.039 0.01 10 40 15 0.026 3 1 1 1 0 22.6 59099 chr1 225495168 225495168 G A rs112172758 DNAH14 Nonsynonymous SNV R3004H 0.048 0.063 0.054 34 56 24 0.087 16 0 0 0 1 17.47 59100 chr10 103906612 103906612 G A rs118161359 PPRC1 Nonsynonymous SNV R1168Q 0.02 0.021 0.017 10 23 8 0.026 5 0 0 0 0 22.4 59101 chr9 139371562 139371562 G A rs7852966 SEC16A Nonsynonymous SNV T169M 0.023 0.018 0.014 16 27 7 0.041 4 0 0 0 0 7.355 59102 chr10 103988265 103988265 G A rs36103207 ELOVL3 Nonsynonymous SNV D109N 0.032 0.029 0.027 11 38 11 0.028 8 0 0 0 0 0.034 59103 chr1 225521101 225521101 G C rs41268715 DNAH14 Nonsynonymous SNV E3325Q 0.054 0.065 0.061 35 63 25 0.09 18 0 0 0 1 23.9 59104 chr1 220344453 220344453 T C rs12045447 RAB3GAP2 Nonsynonymous SNV T863A 0.039 0.026 0.051 15 46 10 0.038 15 1 0 1 1 Benign 0.027 59105 chr6 160864758 160864758 A G rs8187722 SLC22A3 Synonymous SNV L498L 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 16.02 59106 chr10 104121574 104121574 C T rs140964970 GBF1 Nonsynonymous SNV R531C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 35 59107 chr6 161006105 161006105 C T rs41272112 LPA Nonsynonymous SNV R1421Q 0.018 0.008 0.027 3 21 3 0.008 8 0 0 0 0 4.922 59108 chr9 139410467 139410467 G A rs11574889 NOTCH1 Synonymous SNV D545D 0.01 0.026 0.007 9 12 10 0.023 2 0 0 0 0 Benign 8.692 59109 chr10 104173894 104173894 C T PSD Synonymous SNV S395S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.47 59110 chr6 161152206 161152206 T A rs116573785 PLG Nonsynonymous SNV S460R 0.014 0.016 0.02 4 17 6 0.01 6 0 0 0 0 Benign 7.855 59111 chr10 105110575 105110575 - TCCTCG PCGF6 E82_E83insDE 0.003 0.005 0 0 3 2 0 0 0 0 0 0 59112 chr6 163149361 163149361 C T rs372677454 PACRG Nonsynonymous SNV H32Y 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 19.94 59113 chr9 139697169 139697169 C T CCDC183 Synonymous SNV N199N 0.01 0.016 0 2 12 6 0.005 0 0 0 0 0 4.445 59114 chr1 222713502 222713502 G A rs141478102 HHIPL2 Nonsynonymous SNV R434C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.7 59115 chr9 139904722 139904722 C T rs34125425 ABCA2 Synonymous SNV A2092A 0.041 0.047 0.041 15 48 18 0.038 12 1 0 1 0 18.92 59116 chr1 228113073 228113073 C G rs8192628 WNT9A Synonymous SNV T81T 0.009 0.003 0.014 4 10 1 0.01 4 0 0 0 0 12.18 59117 chr1 20680270 20680270 C T rs116705730 VWA5B1 Synonymous SNV S1054S 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 14.01 59118 chr1 153662423 153662423 G A rs35479618 NPR1 Nonsynonymous SNV E967K 0.013 0.023 0.017 14 15 9 0.036 5 0 0 0 1 Benign 24.8 59119 chr6 168440826 168440826 C T rs6928620 KIF25 Synonymous SNV H192H 0.021 0.023 0.027 7 25 9 0.018 8 0 0 0 0 9.601 59120 chr9 140120188 140120188 T A rs182088466 CYSRT1 Nonsynonymous SNV S39T 0.006 0.008 0 0 7 3 0 0 0 0 0 0 10.02 59121 chr1 169500210 169500210 T C rs6010 F5 Synonymous SNV G1674G 0.053 0.042 0.037 29 62 16 0.074 11 4 0 0 3 Likely benign 5.058 59122 chr6 170592510 170592510 C T rs755646568 DLL1 Synonymous SNV A619A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 59123 chr1 169510118 169510118 G A rs9332608 F5 Nonsynonymous SNV P1404S 0.052 0.047 0.034 29 61 18 0.074 10 4 0 0 3 Likely benign 7.427 59124 chr10 106166506 106166506 C G rs750649657 CFAP58 Synonymous SNV L737L 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 11.14 59125 chr1 233388242 233388242 A G rs6682865 PCNX2 Synonymous SNV F662F 0.011 0.005 0.014 0 13 2 0 4 0 0 0 0 8.946 59126 chr1 233393994 233393994 A G rs147287858 PCNX2 Synonymous SNV D538D 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 8.129 59127 chr1 228479802 228479802 G A rs367744340 OBSCN Nonsynonymous SNV A3515T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.88 59128 chr1 233397909 233397909 T C rs78404265 PCNX2 Nonsynonymous SNV N121S 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 0.066 59129 chr9 140130697 140130697 T C rs545784124 SLC34A3 Synonymous SNV P543P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 0.009 59130 chr1 22903102 22903102 C T rs55844027 EPHA8 Synonymous SNV A184A 0.046 0.021 0.058 6 54 8 0.015 17 0 0 0 0 12.91 59131 chr6 22136879 22136879 G T rs6921113 NBAT1 0 0 0.405 0 0 0 0 119 0 0 20 0 12.49 59132 chr1 23418803 23418803 G C rs35645814 LUZP1 Nonsynonymous SNV S651C 0.009 0.008 0.024 5 11 3 0.013 7 0 0 0 0 Benign 16.58 59133 chr11 236328 236328 T A SIRT3 Star tloss M1? 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.7 59134 chr1 154934306 154934306 A - rs200005432 LOC101928120 G74Dfs*8 0.042 0.047 0 13 49 18 0.033 0 1 1 0 1 59135 chr10 115365534 115365534 T C NRAP Nonsynonymous SNV D1265G 0.009 0 0 0 10 0 0 0 0 0 0 0 23.6 59136 chr1 229771899 229771899 G C URB2 Synonymous SNV T513T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 5.096 59137 chr1 20964567 20964567 G A rs759468742 PINK1 Nonsynonymous SNV R207Q 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Uncertain significance 0.003 59138 chr1 20975463 20975463 T C rs2298300 PINK1-AS 0.016 0.01 0.003 4 19 4 0.01 1 0 0 0 0 1.448 59139 chr6 24653283 24653283 T C rs11559067 TDP2 Synonymous SNV L245L 0.025 0.034 0.027 11 29 13 0.028 8 0 1 0 0 8.452 59140 chr1 20977224 20977224 G A rs115768147 PINK1-AS 0.016 0.01 0.003 5 19 4 0.013 1 0 0 0 0 Likely benign 4.037 59141 chr6 24798960 24798962 CTT - rs75474054 ARMH2 K42del 0.026 0.031 0.041 12 31 12 0.031 12 0 0 0 0 59142 chr6 24828449 24828449 C T rs61741706 RIPOR2 Nonsynonymous SNV V861I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 12.13 59143 chr1 169698442 169698442 G T rs79478039 SELE Nonsynonymous SNV F325L 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 Uncertain significance 2.296 59144 chr9 140865989 140865989 A T rs2229951 CACNA1B Synonymous SNV T496T 0.056 0.042 0.048 25 66 16 0.064 14 1 0 0 1 0.001 59145 chr11 290494 290494 C T rs3809110 PGGHG Nonsynonymous SNV R122C 0.041 0.026 0.031 14 48 10 0.036 9 3 1 1 0 29.3 59146 chr1 20980231 20980231 G A rs6692016 DDOST Synonymous SNV A294A 0.016 0.01 0.007 4 19 4 0.01 2 0 0 0 0 Benign/Likely benign 13.5 59147 chr1 155291431 155291431 C T rs12741581 RUSC1-AS1 0.044 0.052 0.044 25 52 20 0.064 13 3 2 0 1 6.371 59148 chr6 25773902 25773902 T C rs202048905 SLC17A4 Synonymous SNV D329D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.532 59149 chr1 20987778 20987778 C T rs17837938 DDOST Synonymous SNV A39A 0.016 0.01 0.003 5 19 4 0.013 1 0 0 0 0 Benign 18.08 59150 chr1 231902912 231902912 C T rs78792190 DISC1 Nonsynonymous SNV P82L 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 Likely benign 0.578 59151 chr10 115885699 115885699 G A rs200793776 CCDC186 Synonymous SNV N853N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.851 59152 chr6 26216869 26216869 C A rs148814957 HIST1H2BG Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 59153 chr1 171514729 171514729 T C PRRC2C Synonymous SNV D1623D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.451 59154 chr1 227261648 227261648 C T rs35017425 CDC42BPA Synonymous SNV S803S 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Benign 14.41 59155 chr1 155887459 155887459 G A rs745737785 KHDC4 Nonsynonymous SNV P424L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 24.3 59156 chr6 2623930 2623930 G A rs9503233 LINC01600 0 0 0.221 0 0 0 0 65 0 0 5 0 8.759 59157 chr6 26271600 26271600 T A rs770969115 HIST1H3G Stop gain K5X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 59158 chr10 3183003 3183003 G A rs71477812 PITRM1 Nonsynonymous SNV L785F 0.022 0.031 0.014 10 26 12 0.026 4 1 0 0 0 not provided 25.7 59159 chr1 156046664 156046664 G T rs751761933 MEX3A Nonsynonymous SNV P422T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 4.842 59160 chr1 233394338 233394338 C T rs554474695 PCNX2 Nonsynonymous SNV E424K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.8 59161 chr10 118357676 118357676 C T rs2305205 PNLIPRP1 Nonsynonymous SNV A271V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.8 59162 chr11 499066 499066 C T rs17849355 RNH1 Nonsynonymous SNV R188H 0.037 0.034 0.031 9 43 13 0.023 9 1 0 0 0 13.33 59163 chr10 3207705 3207705 G C rs9423502 PITRM1 Nonsynonymous SNV L113V 0.051 0.055 0.061 24 60 21 0.062 18 2 0 1 0 7.843 59164 chr6 27327579 27327579 G T rs189170916 ZNF204P 0 0 0.02 0 0 0 0 6 0 0 0 0 1.437 59165 chr10 118620338 118620338 C T rs757371245 ENO4 Nonsynonymous SNV A223V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 3.564 59166 chr1 17292496 17292496 C T rs149931312 CROCC Synonymous SNV D1526D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.508 59167 chr10 3208512 3208512 G A rs1127047 PITRM1 Synonymous SNV T77T 0.051 0.055 0.061 24 60 21 0.062 18 2 0 1 0 7.62 59168 chr1 228433336 228433336 A C rs758725573 OBSCN Nonsynonymous SNV E1235A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 59169 chr10 119044800 119044800 C T rs151173634 PDZD8 Nonsynonymous SNV A482T 0.009 0.003 0.003 5 11 1 0.013 1 0 0 0 0 0.011 59170 chr6 28251956 28251956 A C rs139734956 PGBD1 Synonymous SNV L122L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 59171 chr11 558660 558660 G A rs146543744 LMNTD2 Nonsynonymous SNV R89W 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 16.73 59172 chr1 228461097 228461097 C G rs116320185 OBSCN Nonsynonymous SNV D2037E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.86 59173 chr1 23743812 23743812 C T rs373490559 TCEA3 Nonsynonymous SNV E104K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.653 59174 chr10 121275057 121275057 T C rs763756183 RGS10 Synonymous SNV E121E 0.003 0.008 0.003 6 4 3 0.015 1 0 0 0 0 4.312 59175 chr1 237604747 237604747 C T rs193922621 RYR2 Synonymous SNV D378D 0 0.003 0.014 0 0 1 0 4 0 0 0 0 Benign/Likely benign 13.84 59176 chr10 121579040 121579040 T C rs17099318 INPP5F Synonymous SNV F15F 0.043 0.047 0.058 16 51 18 0.041 17 3 0 0 1 11.7 59177 chr1 237829823 237829823 C T rs144876996 RYR2 Synonymous SNV D2816D 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 12.38 59178 chr10 121671651 121671651 T C rs17099368 SEC23IP Synonymous SNV D429D 0.039 0.044 0.054 15 46 17 0.038 16 2 0 0 1 0.038 59179 chr10 121685559 121685559 G A rs12771873 SEC23IP Synonymous SNV A711A 0.037 0.044 0.054 15 44 17 0.038 16 2 0 0 1 8.513 59180 chr10 121693246 121693246 A G rs34826964 SEC23IP Synonymous SNV T990T 0.039 0.044 0.054 15 46 17 0.038 16 2 0 0 1 3.525 59181 chr10 7239630 7239630 G A rs139470763 SFMBT2 Synonymous SNV Y526Y 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 3.172 59182 chr10 123325158 123325158 G A rs56226109 FGFR2 Nonsynonymous SNV S57L 0.009 0.013 0 5 11 5 0.013 0 0 0 0 0 Benign/Likely benign 22.4 59183 chr1 156627500 156627500 A G BCAN Nonsynonymous SNV N748S 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 59184 chr6 34850826 34850826 G C rs15922 TAF11 Nonsynonymous SNV T68R 0.06 0.065 0.051 35 71 25 0.09 15 3 0 1 1 15.72 59185 chr1 228509681 228509681 G T rs41305122 OBSCN Nonsynonymous SNV D5047Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 59186 chr1 241695792 241695792 T C rs3819976 KMO Synonymous SNV G16G 0.019 0.016 0.027 18 22 6 0.046 8 0 0 0 1 8.859 59187 chr10 123842498 123842498 T A rs41288000 TACC2 Synonymous SNV S161S 0.021 0.021 0.017 12 25 8 0.031 5 0 0 0 1 2.693 59188 chr6 35201057 35201057 A G rs79753406 SCUBE3 Nonsynonymous SNV T230A 0.018 0.034 0.02 5 21 13 0.013 6 1 0 0 0 Benign 13.65 59189 chr1 236990141 236990141 G A rs2229274 MTR Nonsynonymous SNV D314N 0.028 0.034 0.027 11 33 13 0.028 8 0 0 0 0 Benign 22.6 59190 chr1 156902677 156902677 C T rs112423332 LRRC71 Synonymous SNV Y532Y 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 4.229 59191 chr6 36099050 36099050 C T rs55776345 MAPK13 Nonsynonymous SNV S41L 0.021 0.031 0.024 12 25 12 0.031 7 1 0 0 1 Benign 33 59192 chr1 156918137 156918137 C T rs12138039 ARHGEF11 Synonymous SNV S653S 0.026 0.005 0.01 10 30 2 0.026 3 1 0 0 0 14.21 59193 chr6 36343721 36343721 G A rs2234075 ETV7 Nonsynonymous SNV R6W 0.06 0.063 0.058 34 71 24 0.087 17 2 0 0 0 3.049 59194 chr10 126172872 126172872 G A rs147232465 LHPP Nonsynonymous SNV R97Q 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 34 59195 chr6 36452603 36452603 - A rs11450552 KCTD20 0.049 0.042 0.126 12 58 16 0.031 37 1 0 0 0 59196 chr6 36688985 36688985 C G RAB44 Synonymous SNV A358A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.819 59197 chr10 13325784 13325784 C T rs62619919 PHYH Nonsynonymous SNV R157Q 0.02 0.023 0.02 6 24 9 0.015 6 0 0 1 0 Conflicting interpretations of pathogenicity 27.4 59198 chr6 37247127 37247127 A G rs769122440 TBC1D22B Nonsynonymous SNV K54R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 59199 chr1 24082402 24082402 G A rs78642828 ELOA Nonsynonymous SNV E647K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.2 59200 chr10 124806770 124806770 A G rs1131430 ACADSB Nonsynonymous SNV I214V 0.058 0.057 0.041 23 68 22 0.059 12 2 1 1 0 Likely benign 1.119 59201 chr1 244803264 244803264 G A rs187893816 CATSPERE Nonsynonymous SNV V762I 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 0.009 59202 chr10 13699126 13699126 G A rs769681727 FRMD4A Synonymous SNV Y512Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.062 59203 chr10 13699200 13699200 T C rs867446041 FRMD4A Nonsynonymous SNV S488G 0.009 0.005 0 0 11 2 0 0 0 0 0 0 12.55 59204 chr10 129676641 129676641 C T rs377323256 CLRN3 Synonymous SNV T151T 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 10.45 59205 chr1 158725556 158725556 T C rs182482479 OR6K6 Synonymous SNV Y317Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.009 59206 chr1 2338308 2338308 C T rs141430704 PEX10 Synonymous SNV E209E 0.003 0.008 0.01 2 3 3 0.005 3 0 0 0 0 Benign/Likely benign 11.64 59207 chr1 24671406 24671406 C A rs142369311 GRHL3 Nonsynonymous SNV P434H 0.02 0.026 0.014 15 24 10 0.038 4 0 0 0 1 Benign 16.52 59208 chr1 23419283 23419283 G A rs35917050 LUZP1 Nonsynonymous SNV T491I 0.057 0.049 0.051 12 67 19 0.031 15 2 0 0 0 0.021 59209 chr6 41035140 41035140 A C OARD1 Nonsynonymous SNV M74R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.735 59210 chr10 134040367 134040367 C T rs12413251 STK32C Synonymous SNV T205T 0.087 0.102 0.082 39 102 39 0.1 24 9 1 0 1 16.11 59211 chr11 1017528 1017528 T A rs111594665 MUC6 Nonsynonymous SNV H1758L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.089 59212 chr1 247597507 247597507 C T rs147154764 NLRP3 Synonymous SNV L753L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.504 59213 chr6 41903798 41903798 C A rs33966734 CCND3 Nonsynonymous SNV E181D 0.013 0.023 0.034 10 15 9 0.026 10 0 0 0 0 19.67 59214 chr1 235866186 235866186 C T rs148409403 LYST Nonsynonymous SNV R3412H 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Uncertain significance 35 59215 chr1 159899494 159899494 T C rs773050518 IGSF9 Nonsynonymous SNV I754V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.37 59216 chr1 160098806 160098806 C T ATP1A2 Nonsynonymous SNV A418V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 59217 chr10 134672609 134672609 C T rs73391295 CFAP46 Nonsynonymous SNV V1781I 0.012 0.005 0.014 9 14 2 0.023 4 0 0 0 0 1.681 59218 chr10 134712601 134712601 G A rs74161925 CFAP46 Synonymous SNV S1027S 0.011 0.008 0.014 9 13 3 0.023 4 0 0 0 0 4.963 59219 chr10 134748273 134748273 G A rs138074856 CFAP46 Synonymous SNV P283P 0.007 0.01 0 6 8 4 0.015 0 0 0 0 0 2.667 59220 chr6 44144374 44144374 C T rs376356895 CAPN11 Nonsynonymous SNV T353M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.658 59221 chr1 226573274 226573274 G A rs61750984 PARP1 Synonymous SNV D314D 0.009 0 0.014 3 10 0 0.008 4 0 0 0 0 Benign 13.25 59222 chr10 24762465 24762465 A G rs3748215 KIAA1217 Synonymous SNV A103A 0.056 0.065 0.048 21 66 25 0.054 14 1 2 0 0 0.344 59223 chr1 1860298 1860298 G A rs111261748 CFAP74 Synonymous SNV F1104F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.557 59224 chr10 26286159 26286159 G T rs12257119 MYO3A Synonymous SNV T160T 0.056 0.042 0.065 25 66 16 0.064 19 5 0 0 1 Benign/Likely benign 3.487 59225 chr6 46655878 46655878 C T rs73471190 TDRD6 Nonsynonymous SNV P5S 0.003 0 0.014 0 3 0 0 4 0 0 0 0 24.7 59226 chr10 26385578 26385578 G A rs41279908 MYO3A Synonymous SNV E581E 0.067 0.06 0.075 32 79 23 0.082 22 4 0 0 2 Benign/Likely benign 9.001 59227 chr1 186277527 186277527 T C rs75928540 PRG4 Synonymous SNV S758S 0.013 0.018 0.02 7 15 7 0.018 6 0 0 0 0 0.747 59228 chr6 46658250 46658250 A G rs9463234 TDRD6 Nonsynonymous SNV I795M 0.011 0 0.014 4 13 0 0.01 4 1 0 0 0 0.007 59229 chr1 186324810 186324810 A G rs145363119 TPR Nonsynonymous SNV I660T 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 14.84 59230 chr6 46679303 46679303 A G rs1805018 PLA2G7 Nonsynonymous SNV I198T 0.062 0.055 0.054 22 73 21 0.056 16 2 1 0 0 risk factor 0.002 59231 chr1 247902070 247902070 C T rs151028061 OR14K1 Nonsynonymous SNV R52C 0.025 0.016 0.048 5 29 6 0.013 14 0 0 0 0 8.191 59232 chr6 46717652 46717652 T A rs144807779 ANKRD66 Nonsynonymous SNV M30K 0.01 0.005 0.024 3 12 2 0.008 7 1 0 0 0 0.11 59233 chr11 1093274 1093274 C T rs11245949 MUC2 Nonsynonymous SNV S1698L 0.009 0.016 0.051 4 10 6 0.01 15 0 0 0 0 3.734 59234 chr6 46979818 46979818 C T rs150392596 ADGRF1 Synonymous SNV S347S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.45 59235 chr1 23847537 23847537 G A rs116694174 E2F2 Nonsynonymous SNV T202I 0.009 0.01 0.014 6 11 4 0.015 4 0 0 0 0 Likely benign 10.08 59236 chr10 28378613 28378613 G A rs11006853 MPP7 Synonymous SNV L370L 0.053 0.07 0.078 21 62 27 0.054 23 1 1 2 2 13.44 59237 chr1 228463653 228463653 T C OBSCN Nonsynonymous SNV V2049A 0.004 0 0 0 5 0 0 0 0 0 0 0 21.6 59238 chr1 228495174 228495174 G A rs769240841 OBSCN Synonymous SNV T4136T 0.004 0 0 0 5 0 0 0 0 0 0 0 10.63 59239 chr10 30317272 30317272 T C JCAD Nonsynonymous SNV D602G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.1 59240 chr11 1263021 1263021 G T rs56257795 MUC5B Synonymous SNV P1637P 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 5.304 59241 chr10 32197768 32197768 T G rs61748334 ARHGAP12 Synonymous SNV R6R 0.026 0.018 0.024 8 30 7 0.021 7 2 0 0 0 Benign 5.325 59242 chr11 563590 563590 C T rs374791179 RASSF7 Nonsynonymous SNV A356V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 18.68 59243 chr6 53517035 53517035 G A rs3823111 KLHL31 Synonymous SNV Y422Y 0.031 0.021 0.061 14 36 8 0.036 18 2 0 1 1 9.556 59244 chr11 1775352 1775352 C T rs147278302 CTSD Nonsynonymous SNV G282R 0.022 0.01 0.031 5 26 4 0.013 9 0 0 0 0 Benign/Likely benign 22.6 59245 chr1 25558942 25558942 G A rs777375170 SYF2 Nonsynonymous SNV A6V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.902 59246 chr10 43597827 43597827 C A rs1800859 RET Synonymous SNV V125V 0.014 0.021 0.007 4 16 8 0.01 2 1 0 0 0 Benign/Likely benign 17.28 59247 chr1 170934292 170934292 G A rs202063984 MROH9 Nonsynonymous SNV E126K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.6 59248 chr1 24669459 24669459 C G rs141193530 GRHL3 Nonsynonymous SNV P409A 0.006 0 0.003 12 7 0 0.031 1 0 0 0 0 Benign 15.55 59249 chr11 624874 624874 G C rs761162220 CDHR5 Nonsynonymous SNV P10R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.94 59250 chr11 640091 640138 CCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCC - rs750129422 DRD4 S284_P299del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 59251 chr11 2638194 2638194 - T KCNQ1OT1 0.002 0.008 0 0 2 3 0 0 0 0 0 0 59252 chr10 45799452 45799452 C T rs114434897 OR13A1 Nonsynonymous SNV R140Q 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 33 59253 chr6 57015590 57015590 T A rs752177088 ZNF451 Nonsynonymous SNV D894E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 59254 chr6 57061300 57061300 T C rs138803099 RAB23 Nonsynonymous SNV T116A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 59255 chr11 792955 792955 C T rs141975755 SLC25A22 Synonymous SNV A109A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.115 59256 chr6 57254939 57254939 G T rs4994089 MIR548U 0 0 0.16 0 0 0 0 47 0 0 0 0 6.625 59257 chr1 26510311 26510311 C - rs879255394 CNKSR1 P291Hfs*74 0.02 0.013 0.02 0 24 5 0 6 1 0 0 0 59258 chr11 609577 609577 C T rs7123948 PHRF1 Nonsynonymous SNV A1374V 0.056 0.036 0.061 19 66 14 0.049 18 2 0 1 1 0.098 59259 chr1 27189762 27189762 A G SFN Nonsynonymous SNV E20G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 59260 chr1 26620806 26620806 T C rs56039743 UBXN11 Nonsynonymous SNV Y117C 0.014 0.023 0.017 10 17 9 0.026 5 0 1 0 0 27.5 59261 chr1 17322635 17322635 G A rs371445094 ATP13A2 Nonsynonymous SNV R455W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 59262 chr11 4107874 4107874 G A rs548943505 STIM1 Nonsynonymous SNV G548R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.64 59263 chr1 27660731 27660731 G C rs6663062 TMEM222 Synonymous SNV V166V 0.042 0.052 0.048 20 49 20 0.051 14 0 1 0 0 11.18 59264 chr1 201181070 201181070 C T rs149196335 IGFN1 Nonsynonymous SNV T2350M 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.036 59265 chr1 232940953 232940953 T C rs10797593 MAP10 Nonsynonymous SNV S62P 0.059 0.076 0.051 27 69 29 0.069 15 3 1 0 0 3.346 59266 chr6 7231796 7231796 G A rs35521383 RREB1 Nonsynonymous SNV R1155Q 0.006 0.008 0.017 0 7 3 0 5 0 0 0 0 Benign 34 59267 chr1 232941215 232941215 A G rs41271527 MAP10 Nonsynonymous SNV E149G 0.056 0.073 0.051 27 66 28 0.069 15 3 1 0 0 23.7 59268 chr10 47000217 47000217 G A rs72780221 GPRIN2 Nonsynonymous SNV R446H 0.096 0.135 0.054 52 113 52 0.133 16 0 0 0 0 19.98 59269 chr1 27682530 27682530 C G rs17162549 MAP3K6 Nonsynonymous SNV G1225A 0.052 0.049 0.058 23 61 19 0.059 17 0 0 0 0 12.9 59270 chr1 232941677 232941677 G T rs3766497 MAP10 Nonsynonymous SNV R303L 0.058 0.073 0.051 27 68 28 0.069 15 3 1 0 0 7.588 59271 chr1 232942251 232942251 A G rs12048236 MAP10 Synonymous SNV L494L 0.058 0.073 0.051 26 68 28 0.067 15 3 1 0 0 0.633 59272 chr11 830044 830044 G A rs35567200 CRACR2B Nonsynonymous SNV G173S 0.059 0.044 0.037 28 69 17 0.072 11 0 0 0 1 0.016 59273 chr11 830120 830120 A G rs145926870 CRACR2B Nonsynonymous SNV Q198R 0.053 0.036 0.037 23 62 14 0.059 11 0 0 0 1 22.1 59274 chr1 175046835 175046835 C T rs41266080 TNN Nonsynonymous SNV T94M 0.009 0.005 0.014 5 10 2 0.013 4 0 0 0 0 25.4 59275 chr1 28138683 28138683 G C rs989027836 STX12 Nonsynonymous SNV E160D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.46 59276 chr10 48371277 48371277 C T rs3814160 ZNF488 Nonsynonymous SNV P249S 0.117 0.12 0.133 37 137 46 0.095 39 9 3 7 0 3.69 59277 chr1 201334795 201334795 C T rs3729845 TNNT2 Synonymous SNV S64S 0.056 0.057 0.082 11 66 22 0.028 24 3 0 0 0 Benign/Likely benign 18.06 59278 chr1 201355653 201355653 G T rs11805972 LAD1 Nonsynonymous SNV P279Q 0.033 0.023 0.037 9 39 9 0.023 11 1 0 0 0 0.037 59279 chr1 28286608 28286610 CTT - rs113646118 XKR8 L10del 0.011 0.01 0.014 5 13 4 0.013 4 0 0 0 0 59280 chr1 201355761 201355761 A G rs12088790 LAD1 Nonsynonymous SNV L243P 0.038 0.034 0.037 11 45 13 0.028 11 1 0 0 0 5.407 59281 chr6 74475675 74475675 G A rs7741152 CD109 Nonsynonymous SNV G300D 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 14.83 59282 chr1 247978768 247978768 G A rs61740923 OR14A16 Synonymous SNV N88N 0.004 0.008 0.007 6 5 3 0.015 2 0 0 0 1 0.568 59283 chr10 50098740 50098740 T A rs41283285 WDFY4 Synonymous SNV G2428G 0.041 0.049 0.048 15 48 19 0.038 14 1 0 0 1 12.8 59284 chr1 17597423 17597423 C T rs144080386 PADI3 Nonsynonymous SNV A294V 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Pathogenic 34 59285 chr6 76005633 76005633 G A rs77313832 FILIP1 Nonsynonymous SNV S1176F 0.011 0.021 0.017 1 13 8 0.003 5 0 0 0 0 24.1 59286 chr1 31901860 31901860 G A rs146752481 SERINC2 Synonymous SNV S276S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 13.42 59287 chr1 202733178 202733178 A G rs61749325 KDM5B Synonymous SNV N224N 0.033 0.026 0.037 12 39 10 0.031 11 0 0 0 0 12.38 59288 chr1 31902279 31902279 G A rs34728687 SERINC2 Nonsynonymous SNV G307S 0.036 0.044 0.051 13 42 17 0.033 15 0 0 0 0 0.808 59289 chr6 78172467 78172467 G A rs200517746 HTR1B Synonymous SNV Y218Y 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 7.884 59290 chr10 50824106 50824106 C T rs41306415 CHAT Nonsynonymous SNV P3L 0.032 0.052 0.017 12 37 20 0.031 5 0 0 1 0 3.86 59291 chr1 31422976 31422976 T C rs146226392 PUM1 Nonsynonymous SNV I952V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 18.95 59292 chr1 32636430 32636430 G A rs773466240 KPNA6 Nonsynonymous SNV D516N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 59293 chr1 248224746 248224746 G T rs6697812 OR2L3 Nonsynonymous SNV V255F 0.081 0.094 0.078 48 95 36 0.123 23 3 2 1 4 0.001 59294 chr1 248263471 248263471 G A rs45577033 OR2L13 Nonsynonymous SNV R265H 0.035 0.021 0.031 16 41 8 0.041 9 0 1 0 1 0.263 59295 chr1 32674742 32674742 - G rs200086869 DCDC2B Frameshift insertion D18Gfs*66 0.014 0.008 0 1 16 3 0.003 0 0 0 0 0 59296 chr1 178483868 178483868 C T rs144999625 TEX35 Nonsynonymous SNV R50W 0.019 0.01 0.007 5 22 4 0.013 2 0 0 0 0 25 59297 chr1 33134925 33134925 T C rs7538661 RBBP4 Synonymous SNV S284S 0.014 0.013 0.017 6 16 5 0.015 5 1 0 0 0 5.02 59298 chr1 204418369 204418369 G A rs748516800 PIK3C2B Nonsynonymous SNV P764S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.63 59299 chr11 1017945 1017945 A G rs748946578 MUC6 Nonsynonymous SNV F1619S 0.036 0.042 0.017 18 42 16 0.046 5 0 0 0 0 0.004 59300 chr1 248487701 248487701 G A rs41304036 OR2M7 Nonsynonymous SNV T57I 0.019 0.021 0.031 12 22 8 0.031 9 0 1 1 1 16.3 59301 chr1 32280063 32280063 G A rs61741268 SPOCD1 Nonsynonymous SNV T291I 0.01 0.013 0.007 5 12 5 0.013 2 0 0 0 0 9.995 59302 chr1 3328828 3328828 C T rs371813954 PRDM16 Synonymous SNV A689A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 6.015 59303 chr1 32669645 32669645 C T rs41263993 CCDC28B Synonymous SNV F110F 0.033 0.026 0.027 9 39 10 0.023 8 0 0 1 0 Uncertain significance, risk factor 12 59304 chr1 32673382 32673382 G A rs149820318 IQCC Nonsynonymous SNV R447Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.007 59305 chr1 32681129 32681129 G C rs142243330 DCDC2B Nonsynonymous SNV E313D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 59306 chr1 179783009 179783009 T G FAM163A Nonsynonymous SNV N63K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.1 59307 chr10 61941168 61941168 G A rs142415903 ANK3 Synonymous SNV L684L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign/Likely benign 9.326 59308 chr6 97058477 97058477 T C rs146882451 FHL5 Synonymous SNV C178C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.144 59309 chr1 180062869 180062869 T C rs34398436 CEP350 Synonymous SNV D2543D 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 0.871 59310 chr1 33478920 33478920 G A rs111261425 AK2 Synonymous SNV T152T 0.015 0.034 0 4 18 13 0.01 0 0 0 0 0 7.273 59311 chr1 33478931 33478931 G C rs80324279 AK2 Nonsynonymous SNV H149D 0.015 0.036 0 4 18 14 0.01 0 0 0 0 0 Benign 26.4 59312 chr10 64927837 64927837 C T rs71508957 JMJD1C Nonsynonymous SNV E2312K 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Likely benign 26.5 59313 chr6 97247209 97247209 C A rs551022873 GPR63 Synonymous SNV L133L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.768 59314 chr6 97717794 97717794 C T rs141038891 MMS22L Nonsynonymous SNV M227I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.932 59315 chr1 180843064 180843064 A G XPR1 Synonymous SNV P533P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.826 59316 chr1 249142169 249142169 C T rs58906520 ZNF672 Synonymous SNV C232C 0.04 0.036 0.065 15 47 14 0.038 19 0 0 0 0 12.98 59317 chr1 249211350 249211350 T C rs34013644 PGBD2 Synonymous SNV S189S 0.009 0.018 0.027 9 11 7 0.023 8 0 0 0 0 5.234 59318 chr1 34066506 34066506 C T rs141079785 CSMD2 Nonsynonymous SNV R2272H 0.001 0.003 0.003 5 1 1 0.013 1 0 0 0 0 23.9 59319 chr1 3410410 3410410 C T rs61910697 MEGF6 Nonsynonymous SNV G1438R 0.038 0.034 0.027 11 45 13 0.028 8 0 0 0 0 19.86 59320 chr1 181058733 181058733 C G rs769045753 IER5 Nonsynonymous SNV P232R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 16.61 59321 chr1 3410973 3410973 C T rs12075570 MEGF6 Nonsynonymous SNV R1364H 0.037 0.034 0.031 11 44 13 0.028 9 0 0 1 0 9.491 59322 chr1 3417211 3417211 G A rs61742846 MEGF6 Nonsynonymous SNV P898L 0.043 0.039 0.027 11 50 15 0.028 8 0 0 0 0 8.793 59323 chr1 35453771 35453771 T G rs61743186 ZMYM6 Nonsynonymous SNV N971T 0.009 0.003 0.007 6 10 1 0.015 2 0 0 0 0 23.8 59324 chr1 3424388 3424388 G A rs947345 MEGF6 Nonsynonymous SNV P587L 0.065 0.063 0.044 24 76 24 0.062 13 2 0 0 0 25.6 59325 chr10 70450805 70450805 C G rs759636615 TET1 Nonsynonymous SNV T1882R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.6 59326 chr7 100463492 100463492 G A rs34433055 SLC12A9 Synonymous SNV R527R 0.009 0.003 0.01 0 10 1 0 3 0 0 0 0 7.994 59327 chr1 182442981 182442981 G A rs200246535 RGSL1 Synonymous SNV R245R 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 6.071 59328 chr1 3440753 3440753 G A rs41307039 MEGF6 Nonsynonymous SNV P180L 0.009 0.01 0.01 5 11 4 0.013 3 0 0 0 0 0.002 59329 chr1 244583585 244583585 T C rs55648210 ADSS2 Nonsynonymous SNV K226R 0.021 0.023 0.024 2 25 9 0.005 7 1 0 0 0 9.874 59330 chr1 34667833 34667833 G A rs564773544 C1orf94 Synonymous SNV T473T 0.001 0.008 0.007 2 1 3 0.005 2 0 0 0 0 12.41 59331 chr1 35260515 35260515 G A rs766402668 GJA4 Nonsynonymous SNV R234H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.87 59332 chr10 71025440 71025440 C T rs143547587 HKDC1 Synonymous SNV A824A 0.005 0.013 0.003 4 6 5 0.01 1 0 0 0 0 Benign 14.16 59333 chr1 182922003 182922003 G T rs13373887 SHCBP1L Nonsynonymous SNV A89E 0.009 0.01 0.007 2 10 4 0.005 2 0 1 0 0 0.038 59334 chr1 36820939 36820939 A G rs145965967 STK40 Synonymous SNV A151A 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 8.46 59335 chr1 207286381 207286381 C A rs55867570 C4BPA Nonsynonymous SNV P4Q 0.037 0.026 0.031 19 43 10 0.049 9 0 0 1 1 3.051 59336 chr1 36823881 36823881 G T rs138605255 STK40 Nonsynonymous SNV H106N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.74 59337 chr1 183079650 183079650 G A rs12086878 LAMC1 Synonymous SNV E294E 0.005 0.005 0.007 2 6 2 0.005 2 0 0 1 0 12.64 59338 chr1 245850947 245850947 C T KIF26B Synonymous SNV S1554S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.98 59339 chr1 183079662 183079662 C T rs12066326 LAMC1 Synonymous SNV N298N 0.005 0.005 0.007 2 6 2 0.005 2 0 0 1 0 17.56 59340 chr1 183079767 183079767 G A rs12086925 LAMC1 Synonymous SNV A333A 0.005 0.005 0.007 2 6 2 0.005 2 0 0 1 0 13.96 59341 chr1 36934805 36934805 C G rs3917991 CSF3R Nonsynonymous SNV D510H 0.024 0.036 0.037 8 28 14 0.021 11 0 0 0 0 Benign 23 59342 chr1 207782707 207782707 A G rs17259045 CR1 Nonsynonymous SNV N1540S 0.05 0.055 0.044 20 59 21 0.051 13 1 1 0 0 0.003 59343 chr1 27210722 27210722 G A rs78109142 GPN2 Synonymous SNV F263F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.79 59344 chr1 183101625 183101625 G A rs12095652 LAMC1 Synonymous SNV L1219L 0.005 0.005 0.007 2 6 2 0.005 2 0 0 1 0 11.27 59345 chr1 207958446 207958446 C T rs35366573 CD46 Nonsynonymous SNV A309V 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.021 59346 chr1 183201807 183201807 C T rs62640910 LAMC2 Nonsynonymous SNV L679F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 18.05 59347 chr1 38079517 38079517 T G rs36043533 RSPO1 Nonsynonymous SNV K162Q 0.058 0.068 0.061 21 68 26 0.054 18 1 1 2 1 23.8 59348 chr11 1018348 1018348 G A rs202193006 MUC6 Nonsynonymous SNV P1485S 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 1.255 59349 chr1 38184439 38184439 C T rs200181512 EPHA10 Nonsynonymous SNV G936S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.97 59350 chr1 183212320 183212320 C T rs587281 LAMC2 Synonymous SNV L1123L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 9.298 59351 chr1 209797304 209797304 T G rs764993973 LAMB3 Nonsynonymous SNV E673A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.21 59352 chr1 38355296 38355296 G A INPP5B Stop gain R80X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 59353 chr1 29528531 29528531 C T rs11544658 MECR Nonsynonymous SNV R151K 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 Benign 21.7 59354 chr7 100550562 100550562 G A rs78069287 MUC3A Synonymous SNV T381T 0.035 0.021 0.051 4 41 8 0.01 15 0 0 0 0 0.877 59355 chr7 100550563 100550563 A G rs77561545 MUC3A Nonsynonymous SNV T382A 0.033 0.021 0.051 4 39 8 0.01 15 0 0 0 0 4.128 59356 chr1 31194345 31194345 T - rs777805757 MATN1 G117Afs*3 0.001 0 0 3 1 0 0.008 0 0 0 0 0 59357 chr7 100550653 100550653 A C MUC3A Nonsynonymous SNV T412P 0.027 0.013 0.088 5 32 5 0.013 26 0 0 0 0 3.583 59358 chr7 100550737 100550737 T A rs66606045 MUC3A Nonsynonymous SNV F440I 0 0 0.201 0 0 0 0 59 0 0 29 0 6.861 59359 chr7 100550766 100550766 A C rs28654698 MUC3A Nonsynonymous SNV R449S 0 0 0.19 0 0 0 0 56 0 0 26 0 1.417 59360 chr1 31349983 31349983 C T rs41269523 SDC3 Nonsynonymous SNV A96T 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Benign 28.7 59361 chr7 100550786 100550786 T C rs79714278 MUC3A Nonsynonymous SNV L456S 0 0 0.146 0 0 0 0 43 0 0 13 0 0.794 59362 chr7 100550799 100550799 G C rs28705341 MUC3A Synonymous SNV T460T 0 0 0.119 0 0 0 0 35 0 0 5 0 0.706 59363 chr7 100550808 100550808 C A rs368043565 MUC3A Synonymous SNV T463T 0 0 0.102 0 0 0 0 30 0 0 1 0 7.978 59364 chr7 100550811 100550811 A C rs371970072 MUC3A Synonymous SNV S464S 0 0 0.099 0 0 0 0 29 0 0 0 0 4.381 59365 chr7 100550816 100550816 G A rs62483690 MUC3A Nonsynonymous SNV S466N 0 0 0.099 0 0 0 0 29 0 0 0 0 4.3 59366 chr7 100550827 100550827 T C rs760531164 MUC3A Nonsynonymous SNV F470L 0 0 0.095 0 0 0 0 28 0 0 1 0 4.728 59367 chr7 100550838 100550838 G A rs372391962 MUC3A Synonymous SNV S473S 0 0 0.088 0 0 0 0 26 0 0 0 0 0.21 59368 chr1 19166100 19166100 C T rs9988418 TAS1R2 Nonsynonymous SNV R838K 0.012 0.021 0.01 4 14 8 0.01 3 0 0 0 0 0.002 59369 chr1 19166894 19166894 G A rs11805253 TAS1R2 Synonymous SNV A573A 0.013 0.021 0.01 4 15 8 0.01 3 0 0 0 0 2.585 59370 chr11 1262525 1262525 C T rs55669609 MUC5B Nonsynonymous SNV P1472L 0.041 0.034 0.051 17 48 13 0.044 15 0 1 0 1 9.005 59371 chr1 32647120 32647120 C T rs536471811 TXLNA Synonymous SNV D149D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.03 59372 chr1 32672932 32672932 G A rs12032332 IQCC Nonsynonymous SNV C297Y 0.026 0.034 0.034 15 31 13 0.038 10 0 0 0 0 4.48 59373 chr1 212977685 212977685 A G rs757077492 TATDN3 Synonymous SNV R94R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.302 59374 chr1 32714006 32714006 G C rs11576019 FAM167B Nonsynonymous SNV G99A 0.011 0.018 0.01 4 13 7 0.01 3 0 0 0 0 16.4 59375 chr11 1769085 1769085 G A rs190833491 IFITM10 Nonsynonymous SNV R117W 0.029 0.023 0.017 14 34 9 0.036 5 0 0 0 0 27.8 59376 chr1 41327407 41327407 G A rs116373577 CITED4 Synonymous SNV G131G 0.041 0.047 0.037 19 48 18 0.049 11 0 2 0 0 13.95 59377 chr1 32740399 32740399 C T rs761633690 LCK Nonsynonymous SNV P56L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.6 59378 chr1 41327705 41327705 A T rs117660625 CITED4 Nonsynonymous SNV L32Q 0.032 0.047 0 15 37 18 0.038 0 0 2 0 0 24.1 59379 chr1 193150219 193150219 A G rs28930674 B3GALT2 Synonymous SNV A158A 0.056 0.055 0.058 18 66 21 0.046 17 2 1 0 0 1.013 59380 chr1 41482976 41482976 A G rs79974017 SLFNL1 Nonsynonymous SNV V344A 0.012 0.026 0.007 6 14 10 0.015 2 0 0 0 0 24.4 59381 chr1 213414090 213414090 C T rs56183862 RPS6KC1 Nonsynonymous SNV P127L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 22.9 59382 chr1 41990461 41990461 G A rs35122733 HIVEP3 Synonymous SNV H1776H 0.079 0.073 0.054 24 93 28 0.062 16 3 1 1 0 0.194 59383 chr1 42045747 42045747 T C rs35730380 HIVEP3 Synonymous SNV S1574S 0.078 0.073 0.058 24 92 28 0.062 17 3 1 1 0 0.52 59384 chr1 42047208 42047208 C G rs17363472 HIVEP3 Nonsynonymous SNV Q1087H 0.084 0.076 0.071 26 99 29 0.067 21 4 1 2 0 0.318 59385 chr11 2549230 2549230 G A rs148121889 KCNQ1 Synonymous SNV T153T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.95 59386 chr1 34035130 34035130 G C rs34850622 CSMD2 Nonsynonymous SNV L2659V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 21.8 59387 chr11 1951056 1951114 CAAGTGAGTGTGGGGTCCTGGCAGGCCCGCTGCTGAGTGTGTTCTGGGGTGGGGGTGGT - TNNT3 K23del 0.015 0.016 0 4 18 6 0.01 0 0 0 0 0 59388 chr11 1956104 1956104 T C rs16927166 TNNT3 Synonymous SNV I144I 0.02 0.018 0.017 8 24 7 0.021 5 0 0 0 0 Benign/Likely benign 0.101 59389 chr1 42049469 42049469 A G rs200099470 HIVEP3 Nonsynonymous SNV S334P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.19 59390 chr11 6646898 6646898 C T rs116909245 DCHS1 Synonymous SNV T2264T 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Benign 12.07 59391 chr10 82122273 82122273 G A rs144349892 DYDC2 Nonsynonymous SNV R25Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 15.49 59392 chr10 82298174 82298174 C T rs141893264 SH2D4B Synonymous SNV Y29Y 0.012 0.008 0.007 1 14 3 0.003 2 0 0 0 0 8.141 59393 chr1 43119661 43119661 C A rs16829829 CCDC30 Nonsynonymous SNV H772N 0.073 0.065 0.051 36 86 25 0.092 15 2 3 0 0 7.698 59394 chr1 34330200 34330200 C G rs74067992 HMGB4 Nonsynonymous SNV D62E 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.001 59395 chr1 35260208 35260208 C T rs61777220 GJA4 Nonsynonymous SNV R132C 0.022 0.023 0.003 6 26 9 0.015 1 0 0 0 0 Benign 23.4 59396 chr1 200544752 200544752 G A rs762558497 KIF14 Nonsynonymous SNV T687I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 59397 chr1 35370550 35370550 T C DLGAP3 Synonymous SNV P145P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.53 59398 chr1 200867572 200867572 T A rs41269923 INAVA Nonsynonymous SNV I15N 0.008 0.008 0.017 7 9 3 0.018 5 0 0 0 0 Benign 33 59399 chr1 36291571 36291571 A G AGO4 Nonsynonymous SNV M224V 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 4.943 59400 chr11 3113719 3113719 C T rs111371897 OSBPL5 Synonymous SNV Q666Q 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 7.949 59401 chr1 200974705 200974705 C T rs771821901 KIF21B Nonsynonymous SNV V189I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 59402 chr11 3239366 3239366 G A rs145777944 MRGPRG Synonymous SNV F226F 0.011 0.018 0.01 2 13 7 0.005 3 0 0 0 0 3.368 59403 chr1 36479290 36479290 G A rs41267265 AGO3 Synonymous SNV R169R 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Benign 11.38 59404 chr11 3249972 3249972 C A rs200284450 MRGPRE Nonsynonymous SNV D20Y 0.01 0.018 0.007 1 12 7 0.003 2 0 0 0 0 23.6 59405 chr11 4608564 4608570 GAGTATG - rs139794951 OR52I2 S175Pfs*8 0.004 0.01 0.01 5 5 4 0.013 3 0 0 0 0 59406 chr1 44467987 44467987 G A rs61733181 SLC6A9 Synonymous SNV Y255Y 0.015 0.008 0.007 6 18 3 0.015 2 0 0 0 0 Benign 13.04 59407 chr11 4825527 4825527 C T rs117852117 OR52R1 Synonymous SNV L28L 0.012 0.013 0.003 5 14 5 0.013 1 0 0 0 1 1.253 59408 chr1 22169926 22169926 G A rs62642513 HSPG2 Synonymous SNV H2875H 0.014 0.018 0.017 8 17 7 0.021 5 0 0 1 0 Benign 12.81 59409 chr11 4389257 4389257 C T rs186519914 OR52B4 Nonsynonymous SNV R90H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.35 59410 chr1 44415586 44415586 G A rs148762679 IPO13 Synonymous SNV L194L 0.006 0.013 0.007 5 7 5 0.013 2 0 0 0 0 2.941 59411 chr11 4406774 4406774 G A rs531361182 TRIM21 Nonsynonymous SNV A390V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.3 59412 chr1 22200473 22200473 C T rs28546127 HSPG2 Nonsynonymous SNV G1231S 0.026 0.031 0.041 10 31 12 0.026 12 2 0 0 0 Benign/Likely benign 25.8 59413 chr1 22200998 22200998 C T rs2229481 HSPG2 Nonsynonymous SNV R1187Q 0.026 0.031 0.041 10 31 12 0.026 12 2 0 0 0 Benign/Likely benign 19.28 59414 chr11 4567185 4567185 T C rs12295898 OR52M1 Synonymous SNV Y255Y 0.119 0.102 0.065 57 140 39 0.146 19 7 2 2 3 0.024 59415 chr1 3712694 3712694 G C rs772391933 LRRC47 Nonsynonymous SNV P116R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.2 59416 chr1 46159006 46159006 T C TMEM69 Nonsynonymous SNV M58T 0.01 0.008 0 0 12 3 0 0 0 0 0 0 0.003 59417 chr11 5248004 5248004 G A rs11549407 HBB Stop gain Q40X 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 Pathogenic 36 59418 chr7 100680978 100680978 T G rs779347352 MUC17 Nonsynonymous SNV I2094S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 59419 chr1 201182056 201182056 G A rs182559666 IGFN1 Nonsynonymous SNV G2679S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 23.8 59420 chr1 222801868 222801868 G A rs200640492 MIA3 Nonsynonymous SNV D436N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 59421 chr7 100681965 100681965 A C rs138402996 MUC17 Nonsynonymous SNV D2423A 0.011 0.021 0.037 7 13 8 0.018 11 0 0 0 0 0.333 59422 chr10 93741980 93741980 C T rs764187439 BTAF1 Synonymous SNV A682A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.28 59423 chr11 8008934 8008934 C T rs61734576 EIF3F Nonsynonymous SNV P12L 0.031 0.034 0.037 20 36 13 0.051 11 0 0 0 0 22.6 59424 chr10 94834568 94834568 C G rs35355587 CYP26A1 Synonymous SNV L149L 0.015 0.021 0.02 3 18 8 0.008 6 0 0 0 0 Benign 10.25 59425 chr7 102782113 102782113 T C rs111278816 RPL19P12 0 0 0.364 0 0 0 0 107 0 0 0 0 0.796 59426 chr7 102782179 102782179 A G rs879158376 RPL19P12 0 0 0.442 0 0 0 0 130 0 0 0 0 6.594 59427 chr1 48690428 48690428 C T rs367753896 SLC5A9 Synonymous SNV G65G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.67 59428 chr7 103004703 103004703 G A rs144680798 PSMC2 Synonymous SNV A235A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 59429 chr7 107384849 107384849 C T rs756872 LOC101927974 0 0 0.418 0 0 0 0 123 0 0 32 0 8.619 59430 chr1 41300690 41300690 G A rs55964611 KCNQ4 Synonymous SNV P501P 0.031 0.042 0.007 16 36 16 0.041 2 1 1 0 0 Benign 11.97 59431 chr1 47717094 47717094 G A rs144746030 STIL Nonsynonymous SNV P1194L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 59432 chr11 4881508 4881508 A G rs186873226 OR51H1 Nonsynonymous SNV F96S 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 21.5 59433 chr1 47834209 47834209 G T rs35687416 CMPK1 Nonsynonymous SNV Q48H 0.034 0.034 0.044 10 40 13 0.026 13 0 0 0 0 26.2 59434 chr1 52499099 52499099 C T rs144575218 KTI12 Nonsynonymous SNV G112D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.08 59435 chr7 1132483 1132483 T G rs138657567 GPER1 Nonsynonymous SNV S373R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 4.961 59436 chr1 42050055 42050055 G T rs61773680 HIVEP3 Synonymous SNV L138L 0.006 0 0.014 3 7 0 0.008 4 0 0 0 0 0.012 59437 chr10 98115019 98115019 G A rs41306852 OPALIN Nonsynonymous SNV A11V 0.02 0.018 0.02 5 24 7 0.013 6 1 0 0 0 15.92 59438 chr1 225611688 225611688 G A rs2230416 LBR Synonymous SNV H30H 0.017 0 0.01 5 20 0 0.013 3 0 0 0 0 Benign 9.975 59439 chr1 226032928 226032928 G A rs4149229 EPHX1 Synonymous SNV K416K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.53 59440 chr1 52306027 52306027 G A rs114314660 NRDC Synonymous SNV D167D 0.04 0.07 0.054 21 47 27 0.054 16 0 2 1 0 10.83 59441 chr1 226553735 226553735 C T rs754194824 PARP1 Nonsynonymous SNV E809K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 59442 chr1 52840491 52840491 C T rs146844078 ORC1 Synonymous SNV T794T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 13.92 59443 chr1 42902142 42902142 T C rs143810024 ZMYND12 Nonsynonymous SNV I113V 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 2.802 59444 chr1 204218006 204218006 C T rs61749327 PLEKHA6 Synonymous SNV K589K 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 9.841 59445 chr1 43687883 43687883 G A rs746181988 CFAP57 Nonsynonymous SNV D817N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 59446 chr1 227152761 227152761 C T rs76249490 COQ8A Nonsynonymous SNV H80Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.669 59447 chr1 43738543 43738543 G A rs191085603 TMEM125 Synonymous SNV A50A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.16 59448 chr1 227152778 227152778 T G rs2297411 COQ8A Nonsynonymous SNV H85Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 1.331 59449 chr1 43787352 43787352 C T rs35573981 TIE1 Nonsynonymous SNV A1059V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 59450 chr1 54717358 54717358 G A rs761614929 SSBP3 Synonymous SNV P167P 0.011 0.01 0 3 13 4 0.008 0 0 0 0 0 11.06 59451 chr1 227174408 227174408 C T rs56043893 COQ8A Synonymous SNV S638S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.091 59452 chr10 99416592 99416592 G A PI4K2A Synonymous SNV Q261Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.802 59453 chr1 227182674 227182674 G A rs16846779 CDC42BPA Synonymous SNV S1598S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.6 59454 chr1 227219076 227219076 C T rs961490 CDC42BPA Nonsynonymous SNV R1170H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 24.9 59455 chr1 228003871 228003871 G A rs80247201 PRSS38 Nonsynonymous SNV V77M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.8 59456 chr1 29606026 29606026 G A PTPRU Nonsynonymous SNV R541H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 27.5 59457 chr1 55472940 55472940 G A BSND Stop gain W181X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 59458 chr1 228399519 228399519 T A rs191837710 OBSCN Nonsynonymous SNV F12Y 0.003 0.005 0.007 5 4 2 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 59459 chr1 20517632 20517632 C T rs144941949 UBXN10 Nonsynonymous SNV S193L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 59460 chr1 228402666 228402666 G A OBSCN Synonymous SNV E565E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 59461 chr7 127223082 127223082 C T rs34836950 GCC1 Synonymous SNV K438K 0.014 0.023 0.003 2 16 9 0.005 1 0 0 0 0 8.608 59462 chr1 205238131 205238131 C T rs768191600 TMCC2 Synonymous SNV T42T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.828 59463 chr1 228494810 228494810 G A rs117625801 OBSCN Synonymous SNV A4045A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.836 59464 chr10 101715063 101715063 T C rs774442127 DNMBP Nonsynonymous SNV Q723R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.5 59465 chr1 57254770 57254770 T G rs1031163693 FYB2 Nonsynonymous SNV K265N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.453 59466 chr1 205689674 205689674 T C NUCKS1 Nonsynonymous SNV S113G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 59467 chr10 102568872 102568872 C T rs1800897 PAX2 Synonymous SNV N266N 0.068 0.055 0.068 13 80 21 0.033 20 3 1 0 1 Benign 9.404 59468 chr11 5462105 5462105 T C rs60832895 OR51I1 Nonsynonymous SNV T214A 0.012 0.013 0.01 3 14 5 0.008 3 0 0 0 0 0.103 59469 chr11 5462374 5462374 C T rs16930982 OR51I1 Nonsynonymous SNV R124H 0.04 0.034 0.037 11 47 13 0.028 11 1 0 0 0 23.9 59470 chr11 5462702 5462702 G A rs16930998 OR51I1 Stop gain Q15X 0.04 0.034 0.037 11 47 13 0.028 11 1 0 0 0 35 59471 chr7 128486138 128486138 C T rs778413094 FLNC Synonymous SNV P1295P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.55 59472 chr10 102824292 102824292 G A rs11190812 KAZALD1 Nonsynonymous SNV G98D 0.038 0.031 0.024 12 45 12 0.031 7 2 0 0 1 29.2 59473 chr1 55505552 55505552 - CTG rs113330492 PCSK9 L23_G24insL 0.118 0.128 0.122 45 139 49 0.115 36 11 4 2 2 59474 chr1 55505552 55505552 - CTGCTG rs35574083 PCSK9 L23_G24insLL 0.012 0.021 0 2 14 8 0.005 0 0 0 0 0 59475 chr1 55505668 55505668 C T rs11583680 PCSK9 Nonsynonymous SNV A53V 0.11 0.125 0.156 44 129 48 0.113 46 10 4 2 2 Benign/Likely benign 18.29 59476 chr1 230895279 230895279 C T rs12562749 CAPN9 Nonsynonymous SNV A102V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 59477 chr11 5969465 5969465 G A rs200484578 OR56A3 Nonsynonymous SNV G297R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 27.1 59478 chr1 230898397 230898397 A G rs28359631 CAPN9 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.4 59479 chr1 6111683 6111683 G A rs767578775 KCNAB2 Synonymous SNV T29T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.48 59480 chr10 105127816 105127816 C T rs189802876 TAF5 Synonymous SNV L24L 0.014 0.003 0 4 17 1 0.01 0 0 0 0 0 13.34 59481 chr1 207782769 207782769 G A rs41274768 CR1 Nonsynonymous SNV V1561M 0.01 0 0.003 5 12 0 0.013 1 0 0 0 0 5.7 59482 chr7 133502211 133502211 G A rs149782824 EXOC4 Nonsynonymous SNV G550R 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 Benign 25.3 59483 chr1 48241061 48241061 G A rs58366003 TRABD2B Nonsynonymous SNV P377L 0.03 0.044 0.037 10 35 17 0.026 11 0 0 0 0 22.9 59484 chr11 5663706 5663706 G C rs3740997 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV D282H 0.012 0.005 0.024 5 14 2 0.013 7 0 0 1 0 25.2 59485 chr7 134878013 134878013 C T WDR91 Synonymous SNV L569L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 59486 chr1 210591512 210591512 G A rs150402482 HHAT Synonymous SNV E96E 0.026 0.008 0.017 8 31 3 0.021 5 1 0 0 0 5.26 59487 chr7 138967814 138967814 G A rs61995684 UBN2 Synonymous SNV V721V 0.044 0.06 0.031 15 52 23 0.038 9 0 2 1 0 0.071 59488 chr1 211545707 211545707 - AT TRAF5 Frameshift insertion L448Tfs*2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 59489 chr7 139734069 139734069 C T rs35456446 PARP12 Nonsynonymous SNV V463M 0.049 0.063 0.068 17 58 24 0.044 20 2 1 0 1 27.6 59490 chr7 139791645 139791645 G A rs192601953 KDM7A Nonsynonymous SNV P897L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 23.5 59491 chr1 21231453 21231453 T C rs200085032 EIF4G3 Nonsynonymous SNV I503V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 59492 chr1 38006163 38006163 G A rs147613529 SNIP1 Nonsynonymous SNV A174V 0.018 0.023 0.007 7 21 9 0.018 2 0 0 0 0 Likely benign 6.287 59493 chr1 55144466 55144466 A G rs75269200 MROH7 Nonsynonymous SNV K181R 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 24.3 59494 chr1 236760181 236760181 G A rs12135515 HEATR1 Synonymous SNV D233D 0.018 0.026 0.01 14 21 10 0.036 3 0 0 0 1 11.29 59495 chr7 141478702 141478702 G A TAS2R4 Synonymous SNV L138L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.994 59496 chr1 240421302 240421302 C A rs146873580 FMN2 Nonsynonymous SNV L682I 0.017 0.016 0 5 20 6 0.013 0 0 0 0 0 Uncertain significance 25.9 59497 chr1 66713196 66713196 C G rs75398902 PDE4B Nonsynonymous SNV A97G 0.043 0.031 0.041 10 51 12 0.026 12 2 0 0 0 25.1 59498 chr1 21936621 21936621 G A rs776859702 RAP1GAP Nonsynonymous SNV L395F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 59499 chr7 142566065 142566065 C T rs35984674 EPHB6 Nonsynonymous SNV A370V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 59500 chr10 116213225 116213225 C T rs143815431 ABLIM1 Nonsynonymous SNV G145S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.5 59501 chr7 142630489 142630489 A G rs118026031 TRPV5 Nonsynonymous SNV L23P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.06 59502 chr7 142637614 142637614 A - LLCFC1 G129Efs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 59503 chr11 6413167 6413167 G A rs1803161 SMPD1 Nonsynonymous SNV R291H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 59504 chr10 116702425 116702425 A C rs34393297 TRUB1 Nonsynonymous SNV E103A 0.014 0.013 0.02 4 16 5 0.01 6 0 0 0 0 20.5 59505 chr11 6500377 6500377 G A ARFIP2 Nonsynonymous SNV T65I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 59506 chr1 67306243 67306243 A G rs1054776654 WDR78 Nonsynonymous SNV I468T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.37 59507 chr10 118236218 118236218 C T rs61729315 PNLIPRP3 Synonymous SNV N409N 0.011 0.013 0.003 4 13 5 0.01 1 0 0 0 0 9.287 59508 chr1 40627095 40627095 C T rs752116841 RLF Synonymous SNV A8A 0.007 0 0 3 8 0 0.008 0 0 0 0 0 20.6 59509 chr10 118451895 118451895 C T rs111526003 HSPA12A Synonymous SNV P210P 0.006 0.008 0.017 2 7 3 0.005 5 0 0 0 0 16.98 59510 chr10 120789595 120789606 GGCGCTGGGGCC - rs762815077 NANOS1 A99_P102del 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 59511 chr1 62579809 62579809 G A rs144983546 PATJ Nonsynonymous SNV V1516M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.1 59512 chr1 7887605 7887605 G A rs17031614 PER3 Synonymous SNV S872S 0.02 0.021 0.031 7 24 8 0.018 9 0 0 0 0 11.13 59513 chr1 6271107 6271107 C T rs200379375 RNF207 Synonymous SNV F346F 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 11.68 59514 chr1 7909737 7909737 C T rs2890565 UTS2 Nonsynonymous SNV S74N 0.02 0.021 0.034 7 23 8 0.018 10 0 0 0 0 0.788 59515 chr1 6273206 6273206 C T rs55823245 RNF207 Nonsynonymous SNV R539C 0.026 0.036 0.017 14 31 14 0.036 5 0 1 0 1 34 59516 chr1 82402521 82402521 A G rs139190382 ADGRL2 Nonsynonymous SNV I133V 0.008 0.005 0 0 9 2 0 0 0 0 0 0 0.71 59517 chr11 45970461 45970461 T C rs745469384 PHF21A Nonsynonymous SNV M421V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.25 59518 chr1 223568377 223568377 C T rs749893943 CCDC185 Synonymous SNV H520H 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 8.166 59519 chr1 43664311 43664311 C T rs151041991 CFAP57 Synonymous SNV C474C 0.013 0.005 0 7 15 2 0.018 0 0 0 0 0 12.63 59520 chr7 150389574 150389574 G T rs143364322 GIMAP2 Nonsynonymous SNV S67I 0.012 0.01 0.007 9 14 4 0.023 2 0 0 0 0 10.18 59521 chr11 6913281 6913281 T C rs74917712 OR2D2 Nonsynonymous SNV S151G 0.013 0.008 0.003 2 15 3 0.005 1 0 0 0 0 15.22 59522 chr10 124045735 124045735 C A rs201413524 BTBD16 Synonymous SNV P120P 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 11.51 59523 chr1 78601403 78601403 T C rs138341195 GIPC2 Synonymous SNV G234G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.847 59524 chr10 124096160 124096160 A G rs10510108 BTBD16 Nonsynonymous SNV Q473R 0.054 0.055 0.044 21 63 21 0.054 13 2 2 0 1 24.4 59525 chr10 124221270 124221270 C T rs1049331 HTRA1 Synonymous SNV A34A 0.02 0.018 0 2 24 7 0.005 0 7 3 0 0 Benign/Likely benign 16.32 59526 chr10 124221276 124221276 G T rs2293870 HTRA1 Synonymous SNV G36G 0.019 0.005 0 2 22 2 0.005 0 7 1 0 0 Benign/Likely benign 8.401 59527 chr7 151504100 151504100 C T rs62478243 LOC644090 Nonsynonymous SNV A40V 0 0 0.139 0 0 0 0 41 0 0 5 0 6.534 59528 chr7 151504459 151504459 G A rs13224758 LOC644090 Nonsynonymous SNV R48Q 0 0 0.105 0 0 0 0 31 0 0 6 0 4.274 59529 chr7 151504498 151504498 C T rs12703159 LOC644090 Nonsynonymous SNV T61M 0 0 0.15 0 0 0 0 44 0 0 6 0 5.418 59530 chr7 151859683 151859683 G A rs74483926 KMT2C Nonsynonymous SNV S3660L 0.027 0.026 0.054 16 32 10 0.041 16 0 0 0 1 not provided 8.146 59531 chr1 247588152 247588152 C T rs141637807 NLRP3 Synonymous SNV L469L 0.009 0.008 0 5 10 3 0.013 0 0 0 0 0 Benign/Likely benign 2.442 59532 chr7 151878993 151878993 T G rs61730539 KMT2C Synonymous SNV L1984L 0.004 0.003 0.01 7 5 1 0.018 3 0 0 0 0 0.914 59533 chr7 151879358 151879358 G C rs142070663 KMT2C Nonsynonymous SNV P1863A 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 not provided 0.002 59534 chr1 85128191 85128191 G A rs776814808 SSX2IP Synonymous SNV V205V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.15 59535 chr7 154795624 154795624 G A rs143800139 PAXIP1-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 8.071 59536 chr7 154860691 154860691 A G rs2698501 HTR5A-AS1 0 0 0.201 0 0 0 0 59 0 0 8 0 2.458 59537 chr1 6614188 6614188 C T rs537179799 NOL9 Synonymous SNV L125L 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 5.921 59538 chr7 155757393 155757393 G A rs73738966 LOC389602 Nonsynonymous SNV G232R 0.014 0.021 0.014 4 17 8 0.01 4 0 1 0 0 0.02 59539 chr1 46546370 46546370 C G rs115423425 LOC110117498-PIK3R3, PIK3R3 Nonsynonymous SNV M99I 0.01 0.005 0 6 12 2 0.015 0 0 0 0 0 12.84 59540 chr7 156743157 156743157 C G rs61740418 NOM1 Synonymous SNV A242A 0.012 0.018 0.01 4 14 7 0.01 3 0 0 0 0 14.89 59541 chr11 8739331 8739331 A G rs760417952 DENND2B Nonsynonymous SNV M109T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.91 59542 chr7 157929370 157929370 C T rs55645575 PTPRN2 Nonsynonymous SNV D346N 0.009 0.005 0.034 0 11 2 0 10 0 0 0 0 Benign 0.314 59543 chr11 8942867 8942867 C T rs146809873 C11orf16 Nonsynonymous SNV R467H 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 11.55 59544 chr11 16824599 16824599 C T rs34556458 PLEKHA7 Nonsynonymous SNV V693I 0.014 0.016 0.014 11 16 6 0.028 4 0 1 0 0 Likely benign 31 59545 chr11 16824783 16824783 G A rs61133161 PLEKHA7 Synonymous SNV S689S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 13.27 59546 chr7 1626835 1626835 G A rs73289427 PSMG3-AS1 0 0 0.187 0 0 0 0 55 0 0 6 0 1.827 59547 chr7 1627632 1627632 T C rs7800178 PSMG3-AS1 0 0 0.629 0 0 0 0 185 0 0 60 0 0.534 59548 chr7 1627726 1627726 C G rs62436912 PSMG3-AS1 0 0 0.102 0 0 0 0 30 0 0 4 0 3.743 59549 chr10 131506278 131506278 C T rs761952141 MGMT Nonsynonymous SNV P82L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.8 59550 chr11 9101028 9101028 A G rs141220103 SCUBE2 Synonymous SNV N95N 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 7.741 59551 chr1 248084980 248084980 G T rs4362017 OR2T8 Nonsynonymous SNV A221S 0.015 0 0 6 18 0 0.015 0 9 0 0 3 7.249 59552 chr11 9321173 9321173 A G rs77852767 TMEM41B Nonsynonymous SNV F66S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.2 59553 chr11 10647977 10647977 T C rs74898367 MRVI1 Nonsynonymous SNV T294A 0.042 0.031 0.031 14 49 12 0.036 9 1 0 0 0 0.002 59554 chr7 21600745 21600745 C T rs72655977 DNAH11 Synonymous SNV S313S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.56 59555 chr1 52823499 52823499 C A rs62000427 CC2D1B Synonymous SNV L511L 0.009 0.01 0.003 4 10 4 0.01 1 0 0 0 0 Benign 9.876 59556 chr11 10785697 10785697 T C rs143491141 CTR9 Synonymous SNV D411D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.814 59557 chr11 10786238 10786238 G A rs116218770 CTR9 Synonymous SNV L519L 0.003 0 0 0 3 0 0 0 0 0 0 0 6 59558 chr11 10821185 10821185 G A rs11542384 EIF4G2 Synonymous SNV S708S 0.006 0.008 0 2 7 3 0.005 0 1 0 0 0 11.82 59559 chr7 21678643 21678643 A G rs17144835 DNAH11 Nonsynonymous SNV D1635G 0.055 0.06 0.044 13 64 23 0.033 13 2 1 0 0 Benign/Likely benign 32 59560 chr1 92646474 92646474 T A KIAA1107 Nonsynonymous SNV D565E 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.001 59561 chr7 2290320 2290320 C - rs373496719 NUDT1 Stop gain L115* 0 0 0.517 0 0 0 0 152 0 0 58 0 59562 chr1 228548360 228548360 G A rs141233508 OBSCN Synonymous SNV E6589E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 5.809 59563 chr7 23221797 23221797 - CGGCAGCAACCG rs200880793 NUP42 P35_Q36insRQQP 0.053 0.057 0.037 20 62 22 0.051 11 1 0 0 0 59564 chr10 134980953 134980953 C T rs140318541 KNDC1 Synonymous SNV A57A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.7 59565 chr7 2472517 2472517 C T rs17793768 CHST12 Synonymous SNV S81S 0.015 0.01 0.017 8 18 4 0.021 5 1 0 0 0 6.175 59566 chr7 24903139 24903139 C T rs17851558 OSBPL3 Synonymous SNV S251S 0.069 0.073 0.068 37 81 28 0.095 20 3 2 1 1 20.2 59567 chr7 24910408 24910408 T C rs41275970 OSBPL3 Synonymous SNV V108V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.161 59568 chr11 13716324 13716324 C T rs117395380 FAR1 Synonymous SNV I4I 0.026 0.018 0.034 12 30 7 0.031 10 0 0 0 1 16.42 59569 chr11 20065673 20065673 G T rs3802799 NAV2 Nonsynonymous SNV E104D 0.197 0.159 0.15 74 231 61 0.19 44 19 6 5 5 23.5 59570 chr7 2578246 2578246 C T rs2917726 BRAT1 Synonymous SNV A466A 0.054 0.06 0.068 12 63 23 0.031 20 0 0 2 0 Benign 13.43 59571 chr7 26576535 26576535 T C rs740182 KIAA0087 0 0 0.697 0 0 0 0 205 0 0 73 0 0.002 59572 chr1 26608812 26608889 CCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA - UBXN11 G370_P395del 0.003 0 0.044 7 4 0 0.018 13 0 0 0 0 59573 chr7 27192088 27192088 - GGCCT rs145281130 HOXA-AS3 0 0 0.282 0 0 0 0 83 0 0 16 0 59574 chr10 135195148 135195148 G A rs78367010 PAOX Nonsynonymous SNV V285I 0.058 0.047 0.041 15 68 18 0.038 12 0 2 1 0 10.83 59575 chr1 55523041 55523041 C T rs762169784 PCSK9 Nonsynonymous SNV P345L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 59576 chr1 85816215 85816215 G A rs35758461 DDAH1 Synonymous SNV D60D 0.021 0.026 0.007 10 25 10 0.026 2 0 0 0 0 9.687 59577 chr1 86047909 86047909 G A rs9658586 CCN1 Synonymous SNV L192L 0.014 0.018 0.007 12 17 7 0.031 2 0 0 0 0 2.362 59578 chr1 86334472 86334472 C A rs200013419 COL24A1 Nonsynonymous SNV G362V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.1 59579 chr7 29152426 29152426 C T rs138216401 CPVL Nonsynonymous SNV S61N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 26.5 59580 chr1 55622981 55622981 G A USP24 Synonymous SNV D430D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.376 59581 chr1 986732 986732 G A rs144245019 AGRN Nonsynonymous SNV D1785N 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.216 59582 chr7 299940 299940 G A rs143027699 FAM20C Synonymous SNV A583A 0.051 0.039 0.041 19 60 15 0.049 12 2 0 0 1 9.617 59583 chr1 95330440 95330440 C T rs142406496 SLC44A3 Synonymous SNV N424N 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 11.66 59584 chr1 59148136 59148136 T C rs141778225 MYSM1 Nonsynonymous SNV K194E 0.018 0.008 0.014 6 21 3 0.015 4 0 0 0 0 0.025 59585 chr1 9804623 9804623 T C rs41300106 CLSTN1 Nonsynonymous SNV N345S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.954 59586 chr1 59248678 59248678 T A rs774129209 JUN Nonsynonymous SNV E22V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.727 59587 chr7 3180657 3180657 C T rs6964682 LOC100129603 0 0 0.816 0 0 0 0 240 0 0 100 0 1.764 59588 chr7 3197867 3197867 T C rs4634530 LOC100129603 0 0 0.459 0 0 0 0 135 0 0 37 0 0.325 59589 chr11 56020111 56020111 G T rs116934598 OR5T3 Nonsynonymous SNV A146S 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 22.4 59590 chr1 234603322 234603322 A T rs60079444 TARBP1 Nonsynonymous SNV S392T 0.031 0.031 0.037 11 36 12 0.028 11 0 0 0 0 7.677 59591 chr1 60503762 60503762 T C rs17560663 C1orf87 Synonymous SNV L255L 0.102 0.068 0.184 32 120 26 0.082 54 21 4 3 7 7.581 59592 chr1 234606998 234606998 A G rs3754307 TARBP1 Synonymous SNV H345H 0.034 0.023 0.037 13 40 9 0.033 11 1 0 1 0 3.758 59593 chr1 234614390 234614390 G C rs117698521 TARBP1 Nonsynonymous SNV R154G 0.052 0.047 0.048 18 61 18 0.046 14 1 0 0 2 3.395 59594 chr20 10389422 10389422 T C rs137853909 MKKS Nonsynonymous SNV I339V 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 Benign/Likely benign 0.002 59595 chr1 6181605 6181605 C A rs138962606 CHD5 Nonsynonymous SNV M1576I 0.011 0.016 0.003 3 13 6 0.008 1 0 0 0 0 12.33 59596 chr20 1221038 1221038 T C rs16992733 RAD21L1 Synonymous SNV T272T 0.069 0.07 0.071 17 81 27 0.044 21 1 1 0 0 7.783 59597 chr11 33054856 33054856 C T rs17852859 DEPDC7 Nonsynonymous SNV T464I 0.029 0.013 0.02 15 34 5 0.038 6 2 0 0 0 0.748 59598 chr11 33083263 33083263 G A rs61889262 TCP11L1 Synonymous SNV P321P 0.03 0.016 0.02 17 35 6 0.044 6 2 0 0 0 4.122 59599 chr20 1286148 1286148 G A rs373195415 SNPH Nonsynonymous SNV R312H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 59600 chr1 236189209 236189209 A C rs199655594 NID1 Nonsynonymous SNV I657M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.01 59601 chr1 32256590 32256590 G A rs35252813 SPOCD1 Nonsynonymous SNV P569S 0.021 0.008 0.014 8 25 3 0.021 4 0 0 0 0 2.813 59602 chr1 32673249 32673249 C T rs779839965 IQCC Stop gain Q403X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 59603 chr7 38803099 38803099 T C VPS41 Nonsynonymous SNV I435V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 59604 chr1 32678164 32678164 G A rs201407418 DCDC2B Nonsynonymous SNV G201R 0.003 0 0 0 3 0 0 0 0 0 0 0 29 59605 chr1 32849533 32849533 G A rs35849659 BSDC1 Synonymous SNV I102I 0.009 0.003 0 0 11 1 0 0 0 0 0 0 13.91 59606 chr1 91782031 91782031 T C rs11584478 HFM1 Nonsynonymous SNV I939V 0.21 0.195 0.16 68 246 75 0.174 47 31 9 5 10 6.488 59607 chr20 1610918 1610918 T A rs34442420 SIRPG Synonymous SNV I155I 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 5.459 59608 chr1 34208948 34208948 G A rs117716479 CSMD2 Synonymous SNV H702H 0.017 0.018 0.02 5 20 7 0.013 6 0 0 0 0 7.593 59609 chr7 44153474 44153474 G A rs146344486 AEBP1 Nonsynonymous SNV A1031T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 24.5 59610 chr1 93306281 93306281 A G rs115931438 SNORA66 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 15.01 59611 chr11 32112841 32112841 G A rs762250805 RCN1 Synonymous SNV V33V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.863 59612 chr1 237947000 237947000 C T rs56226196 RYR2 Synonymous SNV G3996G 0.023 0.026 0.02 11 27 10 0.028 6 0 1 0 1 Benign/Likely benign 12.23 59613 chr11 45937306 45937306 C T rs11553094 PEX16 Nonsynonymous SNV V103M 0.051 0.06 0.061 20 60 23 0.051 18 1 0 2 1 Benign 22.9 59614 chr11 1016609 1016609 C G rs73403291 MUC6 Nonsynonymous SNV M2064I 0.111 0.143 0 34 130 55 0.087 0 0 0 0 0 0.003 59615 chr1 94512565 94512565 C T rs1801581 ABCA4 Nonsynonymous SNV R943Q 0.036 0.018 0.031 10 42 7 0.026 9 1 0 0 0 Benign/Likely benign 22.7 59616 chr1 6641060 6641060 G C rs200132214 ZBTB48 Nonsynonymous SNV G131R 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 10.67 59617 chr11 46880592 46880592 G C rs149082597 LRP4 Nonsynonymous SNV S1887C 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 59618 chr7 45954465 45954465 G A rs145188037 IGFBP3 Nonsynonymous SNV T277I 0.008 0 0.01 1 9 0 0.003 3 0 0 0 0 8.42 59619 chr1 36643701 36643703 AGA - rs141305015 MAP7D1 K500del 0.009 0.008 0.01 5 10 3 0.013 3 1 0 0 0 59620 chr11 1016732 1016732 T C rs527248643 MUC6 Synonymous SNV T2023T 0.058 0.042 0.088 23 68 16 0.059 26 0 0 0 0 0.084 59621 chr11 47297564 47297564 A G rs74698331 MADD Synonymous SNV P258P 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 7.104 59622 chr20 20168686 20168686 G A rs139564644 CFAP61 Nonsynonymous SNV A500T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 59623 chr11 36458997 36458997 A G rs62621409 PRR5L Nonsynonymous SNV T58A 0.032 0.034 0.031 14 37 13 0.036 9 2 0 0 0 25.6 59624 chr1 38047062 38047062 C G rs112076625 GNL2 Nonsynonymous SNV V332L 0.029 0.029 0.017 19 34 11 0.049 5 0 0 1 2 3.307 59625 chr20 21284236 21284236 T C rs2295412 XRN2 Synonymous SNV P20P 0.098 0.115 0.003 48 115 44 0.123 1 6 2 0 3 7.428 59626 chr20 21376675 21376675 C T NKX2-4 Synonymous SNV E313E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.3 59627 chr20 21687344 21687344 G A rs17861031 PAX1 Synonymous SNV K185K 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 5.579 59628 chr11 47611940 47611940 C G rs142453721 C1QTNF4 Nonsynonymous SNV Q141H 0.041 0.036 0.044 12 48 14 0.031 13 0 0 0 0 12.39 59629 chr20 22562990 22562990 G A rs200459003 FOXA2 Nonsynonymous SNV A297V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 15.64 59630 chr20 1294073 1294073 G A rs141976631 SDCBP2 Stop gain R14X 0.007 0.003 0.003 8 8 1 0.021 1 0 0 0 0 37 59631 chr11 44129290 44129290 C A rs4755228 EXT2 Synonymous SNV R43R 0.01 0.003 0 0 12 1 0 0 1 0 0 0 Benign 18.38 59632 chr7 48284184 48284184 T A rs59913576 ABCA13 Nonsynonymous SNV L425Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 59633 chr11 48188872 48188872 G A rs12809012 PTPRJ Synonymous SNV A1324A 0.067 0.057 0.068 17 79 22 0.044 20 2 0 0 0 0.094 59634 chr11 48239071 48239071 C A rs12292056 OR4B1 Nonsynonymous SNV T237N 0.067 0.057 0.065 17 79 22 0.044 19 2 0 0 0 27.1 59635 chr7 48314151 48314151 C G rs142391487 ABCA13 Nonsynonymous SNV L1630V 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 Benign 22.8 59636 chr7 48319307 48319307 C G rs77189868 ABCA13 Nonsynonymous SNV T2839S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.428 59637 chr20 24944506 24944506 C A rs148619824 APMAP Synonymous SNV L398L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 11.16 59638 chr1 76365333 76365333 C T rs762304277 MSH4 Nonsynonymous SNV P854L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 27.3 59639 chr20 20177288 20177288 C T rs148749465 CFAP61 Synonymous SNV H555H 0.004 0 0 0 5 0 0 0 0 0 0 0 13.97 59640 chr1 245847622 245847622 C T rs61831276 KIF26B Synonymous SNV V782V 0.011 0.021 0.014 11 13 8 0.028 4 0 0 0 0 15.04 59641 chr20 21376894 21376894 G A rs199964105 NKX2-4 Synonymous SNV H240H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.552 59642 chr7 50571757 50571757 T A rs11575376 DDC Nonsynonymous SNV M161L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 10.89 59643 chr11 47259728 47259728 G A rs143049891 DDB2 Nonsynonymous SNV A221T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 17.47 59644 chr20 25436372 25436372 C T rs115168225 NINL Synonymous SNV A949A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.58 59645 chr20 25457428 25457428 C G rs115216034 NINL Synonymous SNV G833G 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 7.221 59646 chr1 40775937 40775937 G A rs2228565 COL9A2 Nonsynonymous SNV T246M 0.023 0.021 0.02 8 27 8 0.021 6 0 0 0 1 Benign 17.52 59647 chr7 51096117 51096117 G A rs117980855 COBL Synonymous SNV A892A 0.004 0 0.014 2 5 0 0.005 4 0 0 0 0 9.978 59648 chr20 25459603 25459603 C T rs35707716 NINL Synonymous SNV L719L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 9.262 59649 chr20 25666720 25666720 G A rs61750884 ZNF337 Synonymous SNV T22T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 11.85 59650 chr20 25666737 25666737 C T rs926487 ZNF337 Nonsynonymous SNV V17I 0.081 0.078 0.082 26 95 30 0.067 24 3 0 0 0 22.7 59651 chr1 7909738 7909738 T C rs368059001 UTS2 Nonsynonymous SNV S74G 0.01 0.008 0 6 12 3 0.015 0 0 0 0 0 0.018 59652 chr11 47431764 47431764 G A rs35741412 SLC39A13 Nonsynonymous SNV R40Q 0.01 0.016 0.007 7 12 6 0.018 2 0 0 0 0 Benign 15.89 59653 chr1 41979249 41979249 C T rs12744227 HIVEP3 Synonymous SNV A1881A 0.02 0.031 0.014 5 24 12 0.013 4 1 0 0 0 13.31 59654 chr11 47612314 47612330 GGGCCCAGCAGGCCGCT - rs759933879 C1QTNF4 A12Gfs*10 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 59655 chr20 2845214 2845214 G A rs61729230 VPS16 Nonsynonymous SNV E470K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23.1 59656 chr1 84876680 84876680 T C rs149919241 DNASE2B Nonsynonymous SNV I182T 0.003 0 0.01 0 3 0 0 3 0 0 0 0 25.9 59657 chr20 30408306 30408306 C G rs34396614 MYLK2 Nonsynonymous SNV P144A 0.016 0.023 0.024 6 19 9 0.015 7 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 59658 chr20 17608171 17608171 G A rs550361889 RRBP1 Nonsynonymous SNV A969V 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 20.8 59659 chr11 1018075 1018075 G A rs772154136 MUC6 Nonsynonymous SNV H1576Y 0.003 0 0 0 4 0 0 0 0 0 0 0 5.562 59660 chr20 25472059 25472059 C T rs45529236 NINL Synonymous SNV A471A 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 13.1 59661 chr1 43162888 43162888 C A YBX1 Nonsynonymous SNV P232Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 59662 chr20 17956347 17956347 C T rs143417446 MGME1 Nonsynonymous SNV R98W 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 59663 chr1 43201614 43201614 C T rs9660973 CLDN19 Nonsynonymous SNV R159Q 0.077 0.06 0.041 39 90 23 0.1 12 3 2 0 0 Benign 13.51 59664 chr7 64139463 64139463 G A rs7804972 MIR6839 0 0 0.316 0 0 0 0 93 0 0 16 0 3.94 59665 chr7 64151627 64151627 A G rs567229986 ZNF107 Nonsynonymous SNV E2G 0 0 0.007 0 0 0 0 2 0 0 0 0 9.145 59666 chr1 43212926 43212926 G A rs67014447 P3H1 Nonsynonymous SNV A691V 0.077 0.06 0.058 38 90 23 0.097 17 3 2 0 0 Benign 9.299 59667 chr1 43223489 43223489 C T rs6700677 P3H1 Nonsynonymous SNV G349R 0.078 0.06 0.058 38 91 23 0.097 17 4 2 0 0 Conflicting interpretations of pathogenicity 31 59668 chr20 31549123 31549123 C T rs36022156 EFCAB8 Nonsynonymous SNV T1192M 0.038 0.044 0.044 17 45 17 0.044 13 1 0 0 1 3.297 59669 chr1 43232504 43232504 C A rs55716016 P3H1 Nonsynonymous SNV A47S 0.058 0.047 0.041 28 68 18 0.072 12 2 2 0 0 Conflicting interpretations of pathogenicity 21.3 59670 chr1 43239261 43239261 A G C1orf50 Nonsynonymous SNV T75A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 22.6 59671 chr7 64388472 64388472 C A rs62455581 ZNF273 Nonsynonymous SNV H256N 0.044 0.036 0.027 12 52 14 0.031 8 0 0 0 0 23.7 59672 chr1 43649324 43649324 T A rs779329412 CFAP57 Synonymous SNV L179L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.88 59673 chr1 85666206 85666206 G A rs184497601 SYDE2 Synonymous SNV F158F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 59674 chr20 2820493 2820493 C A rs2274670 PCED1A Nonsynonymous SNV Q22H 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 13.52 59675 chr20 2841495 2841495 G A rs116927511 VPS16 Nonsynonymous SNV A206T 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 1.694 59676 chr20 2843961 2843961 C T rs78044640 VPS16 Synonymous SNV L321L 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 15.61 59677 chr20 2844911 2844911 C T rs2274671 VPS16 Synonymous SNV I422I 0.01 0.005 0.007 3 12 2 0.008 2 0 0 0 0 12.76 59678 chr20 2969081 2969081 A G rs61742722 PTPRA Synonymous SNV R224R 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 3.75 59679 chr11 57947505 57947505 G C rs138122197 OR9Q1 Nonsynonymous SNV V197L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 59680 chr7 6456302 6456302 C T rs2288152 DAGLB Synonymous SNV P332P 0.029 0.018 0.034 7 34 7 0.018 10 2 0 0 0 12.79 59681 chr7 6590693 6590693 G A rs6463571 GRID2IP Synonymous SNV R125R 0.086 0.081 0.194 44 101 31 0.113 57 50 15 28 22 3.561 59682 chr20 30193226 30193226 C G rs11545368 ID1 Synonymous SNV A12A 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 17.39 59683 chr20 3025330 3025330 G A rs61729220 GNRH2 Nonsynonymous SNV A54T 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 Benign 0.502 59684 chr7 7106636 7106636 A G rs6977967 MIR3683 0 0 0.231 0 0 0 0 68 0 0 10 0 3.538 59685 chr20 30365374 30365374 C G rs764501401 TPX2 Nonsynonymous SNV P272R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.6 59686 chr20 33570322 33570322 C T rs145840864 MYH7B Synonymous SNV I238I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.97 59687 chr7 73150938 73150938 G A ABHD11 Nonsynonymous SNV A243V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 59688 chr1 44160490 44160490 T C rs770859517 KDM4A Synonymous SNV G865G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.351 59689 chr1 87043733 87043733 C T rs2231601 CLCA4 Synonymous SNV Y700Y 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.56 59690 chr20 34022184 34022184 C T rs536732632 GDF5 Synonymous SNV L343L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.864 59691 chr7 73482987 73482987 G A rs41511151 ELN Nonsynonymous SNV G604D 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Benign/Likely benign 21.5 59692 chr20 3103967 3103967 G A rs6115798 UBOX5 Synonymous SNV H15H 0.006 0.005 0 0 7 2 0 0 0 0 0 0 7.334 59693 chr20 3127579 3127579 T C rs73573808 FASTKD5 Nonsynonymous SNV D713G 0.015 0.01 0.003 1 18 4 0.003 1 1 0 0 0 10.58 59694 chr20 34220131 34220131 T C rs150959550 CPNE1 Nonsynonymous SNV N137S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.906 59695 chr1 45163900 45163900 T C rs771284782 ARMH1 Synonymous SNV Y147Y 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 9.09 59696 chr11 58378422 58378422 G A rs79135825 ZFP91 0.013 0.016 0.017 3 15 6 0.008 5 0 0 0 0 25 59697 chr1 45809017 45809017 G A rs149142910 TOE1 Synonymous SNV L392L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Benign 0.242 59698 chr20 34319925 34319925 C A rs765947818 RBM39 Nonsynonymous SNV E78D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.34 59699 chr7 7459554 7459554 G T rs115211979 COL28A1 Nonsynonymous SNV P677T 0.014 0.005 0.027 4 17 2 0.01 8 0 0 0 0 23 59700 chr11 48387278 48387278 - ACT rs139139147 OR4C5 R247delinsQW 0.048 0.052 0.051 19 56 20 0.049 15 0 0 0 0 59701 chr11 48387279 48387279 - TCCTT rs779563500 OR4C5 Frameshift insertion R247Kfs*15 0.063 0.073 0.048 21 74 28 0.054 14 0 0 0 0 59702 chr11 48387284 48387284 - ATGTGAGTCTTTAGTA rs747433867 OR4C5 Frameshift insertion S245Lfs*42 0.08 0.091 0.061 26 94 35 0.067 18 0 0 0 0 59703 chr11 59574126 59574126 G A rs146680546 MRPL16 Synonymous SNV Y150Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.58 59704 chr20 371958 371958 G A rs138380491 TRIB3 Nonsynonymous SNV V107M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.4 59705 chr1 47685411 47685411 T A TAL1 Nonsynonymous SNV D167V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 25.1 59706 chr20 3208967 3208967 C T rs34224785 SLC4A11 Nonsynonymous SNV M794I 0.009 0.005 0 0 11 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 59707 chr20 3732225 3732225 G A rs60858447 HSPA12B Synonymous SNV E405E 0.036 0.044 0.048 10 42 17 0.026 14 1 0 0 0 8.418 59708 chr20 3209072 3209072 A C rs7262506 SLC4A11 Synonymous SNV T759T 0.009 0.005 0 0 11 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 59709 chr20 3782702 3782702 G A rs2228465 CDC25B Synonymous SNV R159R 0.027 0.036 0.024 13 32 14 0.033 7 1 0 0 0 12.54 59710 chr20 32245789 32245789 T C rs148298666 NECAB3 Nonsynonymous SNV H374R 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 21.8 59711 chr20 32264676 32264676 G A rs142009843 E2F1 Synonymous SNV S392S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 10.33 59712 chr20 32266134 32266134 C T rs35385772 E2F1 Nonsynonymous SNV G200S 0.025 0.023 0.044 15 29 9 0.038 13 0 0 0 1 0.042 59713 chr7 82544510 82544510 C T rs61995908 PCLO Synonymous SNV L4264L 0.014 0.008 0.014 4 17 3 0.01 4 0 0 0 0 6.956 59714 chr20 32664917 32664917 G A rs200948404 RALY Nonsynonymous SNV G232S 0.013 0.003 0.027 6 15 1 0.015 8 0 0 0 0 0.135 59715 chr20 39974502 39974502 G A rs75620173 LPIN3 Nonsynonymous SNV R20Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 19.74 59716 chr20 40049579 40049579 T A rs55864139 CHD6 Nonsynonymous SNV N1899I 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 6.866 59717 chr20 2397883 2397883 C T rs147979536 TGM6 Nonsynonymous SNV R448W 0.02 0.026 0.017 12 23 10 0.031 5 0 0 0 1 Likely benign 33 59718 chr20 239936 239936 G A rs74420259 DEFB132 Nonsynonymous SNV V93I 0.044 0.034 0.031 18 52 13 0.046 9 0 0 0 1 0.008 59719 chr20 239937 239937 T C rs73570482 DEFB132 Nonsynonymous SNV V93A 0.009 0.013 0.01 4 10 5 0.01 3 0 0 0 0 0.001 59720 chr1 50884774 50884779 CGGCGG - rs4027495 DMRTA2 A396_A397del 0.038 0.052 0.02 15 45 20 0.038 6 14 8 0 4 59721 chr1 50884784 50884784 G A rs368034286 DMRTA2 Synonymous SNV A394A 0.041 0.057 0.024 19 48 22 0.049 7 15 8 0 5 14.82 59722 chr1 53072370 53072370 G A rs150021014 GPX7 Synonymous SNV V51V 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 11.51 59723 chr20 43851320 43851320 A G rs2233904 SEMG2 Synonymous SNV Q349Q 0 0.005 0 0 0 2 0 0 0 0 0 0 0.051 59724 chr11 60899701 60899701 T C rs2232143 VPS37C Nonsynonymous SNV H220R 0.012 0.005 0.007 4 14 2 0.01 2 0 0 0 1 8.965 59725 chr20 3641868 3641868 A T rs146579049 GFRA4 Nonsynonymous SNV C39S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.7 59726 chr20 43940952 43940952 G C rs149866429 RBPJL Nonsynonymous SNV R179P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 59727 chr11 55563602 55563602 G A rs68042892 OR5D14 Nonsynonymous SNV G191S 0.071 0.078 0.085 30 83 30 0.077 25 2 0 1 0 8.582 59728 chr11 55563738 55563738 G A rs67863827 OR5D14 Nonsynonymous SNV R236H 0.072 0.078 0.082 30 84 30 0.077 24 2 0 1 0 10.26 59729 chr11 1260780 1260780 - GT MUC5B Frameshift insertion L1190Vfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 59730 chr7 89937093 89937093 G A rs374396434 CFAP69 Synonymous SNV T759T 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 13.13 59731 chr1 9188989 9188989 A G rs114206792 GPR157 Nonsynonymous SNV V33A 0.028 0.021 0.01 20 33 8 0.051 3 1 0 0 0 24.2 59732 chr1 53995515 53995515 G A rs12021912 GLIS1 Synonymous SNV A302A 0.008 0.016 0.017 1 9 6 0.003 5 0 0 0 0 12.01 59733 chr11 55578987 55578987 T C rs67727364 OR5L1 Synonymous SNV L15L 0.072 0.078 0.085 30 84 30 0.077 25 2 0 1 0 0.009 59734 chr11 55578991 55578991 C T rs61732387 OR5L1 Synonymous SNV L17L 0.072 0.078 0.085 30 84 30 0.077 25 2 0 1 0 7.313 59735 chr11 55579102 55579102 C T rs34961497 OR5L1 Nonsynonymous SNV R54W 0.072 0.078 0.085 30 84 30 0.077 25 2 0 1 0 16.76 59736 chr20 30433139 30433139 G A rs6089096 FOXS1 Synonymous SNV N69N 0.14 0.125 0.133 61 164 48 0.156 39 14 5 1 5 4.701 59737 chr1 92430257 92430257 C T rs781375003 BRDT Nonsynonymous SNV A89V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.704 59738 chr1 54605318 54605318 - GC CDCP2 Frameshift insertion M409Afs*2 0.009 0.016 0.003 6 11 6 0.015 1 0 0 0 1 59739 chr11 55579419 55579419 T C rs34948392 OR5L1 Synonymous SNV H159H 0.072 0.078 0.085 30 84 30 0.077 25 2 0 1 0 0.002 59740 chr11 55579801 55579801 T C rs12790505 OR5L1 Nonsynonymous SNV S287P 0.071 0.078 0.085 30 83 30 0.077 25 2 0 1 0 5.242 59741 chr20 44417593 44417593 C A rs73122754 WFDC3 Nonsynonymous SNV R63L 0.078 0.068 0.078 33 91 26 0.085 23 2 0 1 0 19.32 59742 chr11 55594869 55594869 G A rs56711116 OR5L2 Nonsynonymous SNV V59M 0.07 0.078 0.085 29 82 30 0.074 25 2 0 1 0 7.089 59743 chr20 31024028 31024028 G A rs150391716 ASXL1 Synonymous SNV R1110R 0.018 0.005 0.01 5 21 2 0.013 3 0 0 0 0 Benign 9.821 59744 chr1 55060362 55060362 G A rs1702003 ACOT11 Nonsynonymous SNV G202D 0.049 0.034 0.034 15 57 13 0.038 10 3 0 1 0 7.188 59745 chr11 55595012 55595012 A T rs35645945 OR5L2 Synonymous SNV T106T 0.071 0.076 0.085 28 83 29 0.072 25 2 0 1 0 0.001 59746 chr1 26517811 26517811 A G rs142583631 CATSPER4 Nonsynonymous SNV M83V 0.009 0.008 0.01 9 11 3 0.023 3 0 0 0 0 10.56 59747 chr11 55595017 55595017 G T rs117277709 OR5L2 Nonsynonymous SNV G108V 0.071 0.078 0.085 29 83 30 0.074 25 2 0 1 0 0.001 59748 chr11 55595018 55595018 A G rs61745634 OR5L2 Synonymous SNV G108G 0.071 0.078 0.085 29 83 30 0.074 25 2 0 1 0 0.004 59749 chr11 62286660 62286660 A T AHNAK Nonsynonymous SNV S5077T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.5 59750 chr20 44511533 44511533 G A rs3746500 ZSWIM1 Nonsynonymous SNV R101Q 0.014 0.016 0.027 11 16 6 0.028 8 0 0 0 0 12.9 59751 chr11 55595114 55595114 G T rs34929168 OR5L2 Synonymous SNV L140L 0.071 0.078 0.085 29 83 30 0.074 25 2 0 1 0 0.011 59752 chr11 55595115 55595115 C T rs71490506 OR5L2 Nonsynonymous SNV R141C 0.071 0.078 0.085 29 83 30 0.074 25 2 0 1 0 0.171 59753 chr20 3686512 3686512 G A rs6052021 SIGLEC1 Synonymous SNV G195G 0.023 0.021 0.014 8 27 8 0.021 4 0 0 0 0 8.801 59754 chr11 55595116 55595116 G C rs75822385 OR5L2 Nonsynonymous SNV R141P 0.071 0.078 0.085 29 83 30 0.074 25 2 0 1 0 23.4 59755 chr20 44637624 44637624 C T rs1805088 MMP9 Nonsynonymous SNV A20V 0.02 0.021 0.031 9 23 8 0.023 9 0 0 0 0 Likely benign 9.445 59756 chr20 44637678 44637678 A G rs41427445 MMP9 Nonsynonymous SNV N38S 0.016 0.01 0.02 8 19 4 0.021 6 0 0 0 0 Benign 0.014 59757 chr7 93551468 93551468 G C rs758905574 GNG11 Nonsynonymous SNV E7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 59758 chr11 55681566 55681566 G A rs61749302 OR5W2 Nonsynonymous SNV R165C 0.071 0.078 0.082 30 83 30 0.077 24 2 0 1 0 13.01 59759 chr20 44664491 44664491 C A rs3848724 SLC12A5 Synonymous SNV R142R 0.02 0.029 0.034 10 24 11 0.026 10 0 0 0 1 Benign 18.93 59760 chr20 37202908 37202908 G A rs139334617 RALGAPB Nonsynonymous SNV V1420M 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 29 59761 chr20 44665946 44665946 T C rs3746519 SLC12A5 Synonymous SNV G201G 0.02 0.029 0.034 10 24 11 0.026 10 0 0 0 1 Benign 3.59 59762 chr20 44671853 44671853 G A rs6073997 SLC12A5 Synonymous SNV S399S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.81 59763 chr20 44671880 44671880 C T rs35804246 SLC12A5 Synonymous SNV I408I 0.02 0.031 0.031 10 24 12 0.026 9 0 0 0 1 Benign 10.97 59764 chr11 55703728 55703728 A G rs4367963 OR5I1 Nonsynonymous SNV L50S 0.071 0.078 0.082 30 83 30 0.077 24 2 0 1 0 25.5 59765 chr20 37278445 37278445 G A rs200034668 ARHGAP40 Nonsynonymous SNV R660H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 21.4 59766 chr11 55761251 55761251 A G rs66470326 OR5F1 Nonsynonymous SNV M284T 0.01 0.023 0.014 3 12 9 0.008 4 0 0 0 0 16.43 59767 chr11 55761528 55761528 T C rs35607186 OR5F1 Nonsynonymous SNV T192A 0.072 0.078 0.082 31 84 30 0.079 24 2 0 1 1 23.3 59768 chr1 94490571 94490571 G A rs774957381 ABCA4 Synonymous SNV L1525L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 11.07 59769 chr20 46279918 46279918 C T rs138733364 NCOA3 Nonsynonymous SNV P1281S 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 23 59770 chr20 3765490 3765490 G A rs116448673 CENPB Synonymous SNV A547A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 9.059 59771 chr20 31825579 31825579 T A rs760652134 BPIFA1 Nonsynonymous SNV F21Y 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 12.42 59772 chr20 376857 376857 G A rs11537605 TRIB3 Synonymous SNV L200L 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 10.59 59773 chr1 26899801 26899801 A G RPS6KA1 Synonymous SNV K687K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.492 59774 chr20 47244450 47244450 G A rs6125402 PREX1 Synonymous SNV H1606H 0.143 0.117 0.088 55 168 45 0.141 26 10 2 1 2 9.349 59775 chr7 98628333 98628333 G A rs377620339 LOC101927550 0 0 0.007 0 0 0 0 2 0 0 0 0 4.49 59776 chr20 47246077 47246077 C G rs3936192 PREX1 Nonsynonymous SNV S1559T 0.143 0.117 0.088 55 168 45 0.141 26 10 2 1 2 0.063 59777 chr20 47246127 47246127 G A rs3936193 PREX1 Synonymous SNV L1542L 0.143 0.117 0.088 54 168 45 0.138 26 10 2 1 1 11.82 59778 chr1 27677409 27677409 G A rs113120872 SYTL1 Nonsynonymous SNV G377D 0.043 0.039 0.051 23 50 15 0.059 15 0 2 1 0 0.06 59779 chr11 56128673 56128673 - T rs34649252 OR8J1 X317delinsX 0.068 0.076 0.071 29 80 29 0.074 21 2 0 0 0 59780 chr1 5934581 5934581 C T rs143020939 NPHP4 Nonsynonymous SNV V549I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.401 59781 chr7 99751521 99751521 G A rs11540426 LAMTOR4 Synonymous SNV T51T 0.014 0.021 0.034 1 16 8 0.003 10 0 1 1 0 16.73 59782 chr20 4776526 4776526 G A rs148149429 RASSF2 Synonymous SNV N74N 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.318 59783 chr20 48164503 48164503 G A rs45498106 PTGIS Synonymous SNV D84D 0.019 0.021 0.014 7 22 8 0.018 4 1 0 0 0 9.143 59784 chr20 35422960 35422960 G A rs41276994 SOGA1 Synonymous SNV L1175L 0.017 0.018 0.027 6 20 7 0.015 8 0 0 0 0 7.494 59785 chr11 4510342 4510342 T C rs138616789 OR52K1 Nonsynonymous SNV I71T 0.031 0.029 0.034 5 36 11 0.013 10 1 0 1 0 0.002 59786 chr8 102381419 102381419 C T rs10108277 NACA4P 0 0 0.017 0 0 0 0 5 0 0 0 0 10.44 59787 chr20 35675512 35675512 G A rs149999468 RBL1 Nonsynonymous SNV R90C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 59788 chr8 103664023 103664023 G A rs772180069 KLF10 Synonymous SNV N168N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.755 59789 chr8 103819681 103819681 G A rs10108226 GASAL1 0 0 0.044 0 0 0 0 13 0 0 0 0 6.344 59790 chr8 103845372 103845372 G A rs2304347 AZIN1 Synonymous SNV P272P 0.013 0.013 0.02 4 15 5 0.01 6 0 0 0 0 7.223 59791 chr8 10411495 10411495 T C rs79196981 PRSS55 Nonsynonymous SNV S262P 0.035 0.055 0.058 24 41 21 0.062 17 4 4 1 3 2.098 59792 chr1 29475709 29475709 C T rs758539230 SRSF4 Nonsynonymous SNV R233Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 59793 chr11 56143424 56143424 A G rs12788990 OR8U1, OR8U8 Nonsynonymous SNV I109V 0.059 0.07 0.075 27 69 27 0.069 22 0 0 0 0 0.001 59794 chr20 5086915 5086915 T C rs6107576 TMEM230 Synonymous SNV A47A 0.017 0.026 0.031 12 20 10 0.031 9 1 0 0 0 0.228 59795 chr1 3102852 3102852 G A rs199614349 PRDM16 Synonymous SNV P67P 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Benign/Likely benign 7.103 59796 chr20 1532665 1532665 A G rs145271590 SIRPD Synonymous SNV H31H 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 0.453 59797 chr8 104897660 104897660 C T rs17854256 RIMS2 Nonsynonymous SNV S86F 0.018 0.01 0.007 11 21 4 0.028 2 0 0 0 0 23.5 59798 chr8 104948947 104948947 C G rs17854257 RIMS2 Synonymous SNV G687G 0.018 0.01 0.007 11 21 4 0.028 2 0 0 0 0 14.46 59799 chr11 64809072 64809072 A - SAC3D1 D103Afs*32 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 59800 chr8 105080740 105080740 G A rs749705604 RIMS2 Nonsynonymous SNV G915D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 59801 chr20 55108506 55108506 - AATA rs756419294 FAM209B Frameshift insertion P37Qfs*45 0.067 0.065 0.058 24 79 25 0.062 17 3 0 0 0 59802 chr20 55108508 55108511 GTGT - rs780605931 FAM209B C38Efs*33 0.067 0.065 0.058 24 79 25 0.062 17 3 0 0 0 59803 chr20 55206401 55206401 C G rs140675668 TFAP2C Synonymous SNV P63P 0.017 0.016 0.017 4 20 6 0.01 5 0 0 0 0 10.8 59804 chr20 37258265 37258265 C T rs73101927 ARHGAP40 Nonsynonymous SNV T251I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 4.24 59805 chr8 10920326 10920326 C T rs6601555 LOC101929269 0 0 0.527 0 0 0 0 155 0 0 40 0 4.763 59806 chr8 110131553 110131553 G A rs147019235 TRHR Nonsynonymous SNV V356I 0.007 0.01 0.01 4 8 4 0.01 3 0 0 0 0 Likely benign 18.23 59807 chr20 46331275 46331275 G A rs61730619 SULF2 Synonymous SNV S185S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 12.97 59808 chr20 56285540 56285540 T C rs2273534 NKILA 0.06 0.089 0.061 30 71 34 0.077 18 1 1 1 1 6.287 59809 chr11 57076384 57076384 C T rs35378326 TNKS1BP1 Synonymous SNV E1267E 0.035 0.023 0.01 12 41 9 0.031 3 0 0 0 0 Benign 9.23 59810 chr20 47268002 47268002 C T rs140630822 PREX1 Nonsynonymous SNV A863T 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 29.4 59811 chr20 40052133 40052133 G A rs141301311 CHD6 Synonymous SNV G1518G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.84 59812 chr1 66075770 66075770 A G rs775755358 LEPR Synonymous SNV T631T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 59813 chr20 42355169 42355169 G C rs17826038 GTSF1L Nonsynonymous SNV L56V 0.038 0.047 0.044 23 45 18 0.059 13 0 0 0 1 23.9 59814 chr8 11296049 11296049 T A rs3021518 FAM167A-AS1 0 0 0.173 0 0 0 0 51 0 0 6 0 0.007 59815 chr11 65547791 65547791 A G rs200798182 AP5B1 Nonsynonymous SNV M58T 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 18.1 59816 chr20 58646134 58646134 A G rs41303929 C20orf197 0.007 0.005 0 0 8 2 0 0 0 0 0 0 2.2 59817 chr8 11619205 11619205 C G rs13281294 C8orf49 Nonsynonymous SNV R95G 0 0 0.116 0 0 0 0 34 0 0 4 0 23.2 59818 chr1 35227362 35227362 C G rs79193415 GJB4 Nonsynonymous SNV C169W 0.026 0.026 0.027 6 30 10 0.015 8 0 0 0 0 Benign 25.8 59819 chr8 119938782 119938782 T C rs2228568 TNFRSF11B Synonymous SNV L256L 0.11 0.081 0.156 43 129 31 0.11 46 5 0 1 2 Benign 9.193 59820 chr20 44005936 44005936 C T rs2231616 TP53TG5 Nonsynonymous SNV R57H 0.12 0.102 0.156 48 141 39 0.123 46 4 1 6 1 14.03 59821 chr8 120101938 120101938 A G rs16891987 COLEC10 Synonymous SNV G56G 0.04 0.049 0.044 16 47 19 0.041 13 0 0 0 0 0.551 59822 chr1 36181813 36181813 G C rs41267257 C1orf216 Nonsynonymous SNV A37G 0.016 0.031 0.01 13 19 12 0.033 3 1 0 0 1 5.081 59823 chr20 60768573 60768573 C T rs41284984 MTG2 Nonsynonymous SNV R33W 0.044 0.055 0.048 15 52 21 0.038 14 2 0 0 0 11.23 59824 chr11 58275465 58275465 A C rs757185035 OR5B21 Synonymous SNV L38L 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 0.002 59825 chr1 36644376 36644376 A G MAP7D1 Synonymous SNV R622R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.8 59826 chr20 44575021 44575021 C T rs369977635 PCIF1 Synonymous SNV R537R 0.006 0 0 2 7 0 0.005 0 0 0 0 0 10.04 59827 chr20 56083773 56083773 T C rs73625093 CTCFL Synonymous SNV K377K 0.012 0.01 0.003 6 14 4 0.015 1 1 0 0 1 3.249 59828 chr20 44664493 44664493 G T rs77659338 SLC12A5 Synonymous SNV R142R 0.141 0.138 0.143 48 165 53 0.123 42 11 3 2 4 7.39 59829 chr20 20349555 20349555 T G rs200158934 INSM1 Nonsynonymous SNV V215G 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 8.922 59830 chr8 126021414 126021414 A T rs118130263 SQLE Nonsynonymous SNV N313Y 0.006 0 0.027 1 7 0 0.003 8 0 0 0 0 24.5 59831 chr8 128098561 128098561 T A rs56311652 PRNCR1 0 0 0.269 0 0 0 0 79 0 0 14 0 17.02 59832 chr8 128098838 128098838 G A rs55905282 PRNCR1 0 0 0.269 0 0 0 0 79 0 0 13 0 15.39 59833 chr8 129021179 129021179 G A rs2114358 MIR1206 0 0 0.595 0 0 0 0 175 0 0 53 0 4.977 59834 chr1 78187783 78187783 T C rs139512047 USP33 Nonsynonymous SNV I496M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.935 59835 chr8 130789839 130789839 T C rs200453679 GSDMC 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 22.4 59836 chr8 132052342 132052342 C T rs2228949 ADCY8 Nonsynonymous SNV A80T 0.051 0.031 0.044 20 60 12 0.051 13 1 1 1 0 21.8 59837 chr8 133036872 133036872 G A rs757460789 OC90 Synonymous SNV H430H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.059 59838 chr11 60183189 60183189 C T rs117801657 MS4A14 Nonsynonymous SNV P233S 0.071 0.055 0.065 34 83 21 0.087 19 4 1 0 2 0.004 59839 chr8 133912568 133912568 G C rs115789271 TG Synonymous SNV S1139S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.506 59840 chr20 58564053 58564053 C G CDH26 Nonsynonymous SNV P373R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 59841 chr20 61908597 61908597 C T rs112090089 ARFGAP1 Nonsynonymous SNV S75L 0.006 0.01 0.017 4 7 4 0.01 5 0 0 0 0 23.6 59842 chr11 5730705 5730705 C T rs187416296 TRIM22 Nonsynonymous SNV R438C 0.014 0.01 0.007 5 17 4 0.013 2 0 0 0 0 23.8 59843 chr8 134042112 134042112 G T rs116723711 TG Synonymous SNV A2361A 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 Benign/Likely benign 13.59 59844 chr1 84764249 84764249 A G rs1156085 SAMD13 Synonymous SNV G3G 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 12.03 59845 chr1 41483780 41483780 G T rs34386830 SLFNL1 Nonsynonymous SNV P162T 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 9.461 59846 chr1 85014547 85014547 G A rs143138172 SPATA1 Nonsynonymous SNV R342Q 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 14.24 59847 chr1 41483851 41483851 A G rs372325772 SLFNL1-AS1 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.755 59848 chr20 62163942 62163942 C T PTK6 Nonsynonymous SNV G257R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 59849 chr11 60718658 60718658 G A rs549604580 SLC15A3 Synonymous SNV A122A 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 15.78 59850 chr20 62191937 62191937 G A rs11551685 HELZ2 Synonymous SNV C1896C 0.129 0.117 0.133 34 151 45 0.087 39 15 4 5 2 7.989 59851 chr8 141461017 141461017 G A rs61740786 TRAPPC9 Synonymous SNV I152I 0.019 0.018 0.01 5 22 7 0.013 3 1 0 0 0 Likely benign 8.767 59852 chr1 86497579 86497579 C T rs187962051 COL24A1 Synonymous SNV P677P 0.002 0.005 0.024 1 2 2 0.003 7 0 0 0 0 16.77 59853 chr1 86611815 86611815 A G rs780892212 COL24A1 Synonymous SNV H36H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.859 59854 chr8 142225950 142225950 C T rs200395774 SLC45A4 Nonsynonymous SNV A566T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 59855 chr20 55758929 55758929 C T rs61733436 BMP7 Synonymous SNV G269G 0.014 0.016 0.003 3 17 6 0.008 1 0 0 0 0 14.54 59856 chr11 61544816 61544816 C T MYRF Synonymous SNV H557H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 17.24 59857 chr20 3147804 3147804 C T rs767793870 LZTS3 Synonymous SNV A2A 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 16.58 59858 chr8 143546315 143546315 C G rs139171909 ADGRB1 Synonymous SNV T252T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.85 59859 chr8 143559561 143559561 T C rs57661143 ADGRB1 Synonymous SNV D467D 0.032 0.026 0.041 14 37 10 0.036 12 1 0 0 1 2.595 59860 chr20 31607551 31607551 G C rs61734341 BPIFB2 Nonsynonymous SNV D359H 0.027 0.047 0.01 8 32 18 0.021 3 0 0 0 0 26.1 59861 chr20 61443716 61443716 G A rs41309371 OGFR Nonsynonymous SNV R250Q 0.01 0.01 0.014 3 12 4 0.008 4 0 0 0 0 26.9 59862 chr20 61444523 61444523 C T rs116876380 OGFR Nonsynonymous SNV S519L 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 9.068 59863 chr20 61451333 61451333 G A rs142639450 COL9A3 Nonsynonymous SNV R103Q 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 Benign 23.5 59864 chr20 62715318 62715318 T G rs77021907 LKAAEAR1 Nonsynonymous SNV E85D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.237 59865 chr11 74715418 74715418 G C rs11236283 NEU3 Nonsynonymous SNV W125C 0.022 0.029 0.01 6 26 11 0.015 3 0 0 0 0 8.405 59866 chr20 57767727 57767727 T A rs61743785 ZNF831 Synonymous SNV T551T 0.06 0.057 0.068 22 71 22 0.056 20 2 1 1 2 0.16 59867 chr11 62343057 62343057 C T rs35639864 TUT1 Nonsynonymous SNV G712R 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 23.2 59868 chr8 144063784 144063784 G A rs28540461 LY6E-DT 0 0 0.116 0 0 0 0 34 0 0 4 0 2.638 59869 chr8 144126087 144126087 C A rs73717943 C8orf31 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 0.001 59870 chr20 58467097 58467097 T G rs117549957 SYCP2 Nonsynonymous SNV E771A 0.014 0.01 0.01 4 16 4 0.01 3 0 0 0 0 0.003 59871 chr20 61513427 61513438 GCTGCTGTTGTG - rs374696200 DIDO1 T1291_A1294del 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 59872 chr20 58514494 58514494 C T rs149736385 PPP1R3D Nonsynonymous SNV A165T 0.014 0.01 0.01 4 16 4 0.01 3 0 0 0 0 8.877 59873 chr11 62569103 62569103 G C rs191516295 NXF1 Nonsynonymous SNV L214V 0.009 0.013 0.01 1 10 5 0.003 3 0 0 0 0 Likely benign 11.96 59874 chr1 45469342 45469342 T G HECTD3 Nonsynonymous SNV S834R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 30 59875 chr1 45475881 45475881 T C rs146960255 HECTD3 Synonymous SNV Q205Q 0.009 0.005 0.007 3 10 2 0.008 2 0 0 0 0 Benign 0.238 59876 chr20 32664869 32664869 G A rs779745009 RALY Nonsynonymous SNV G216S 0.009 0.01 0.003 5 10 4 0.013 1 0 0 0 0 7.341 59877 chr20 5921937 5921937 G A rs147963963 TRMT6 Synonymous SNV D219D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.686 59878 chr11 60699165 60699165 C G rs138156166 TMEM132A Nonsynonymous SNV L342V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.107 59879 chr20 62192768 62192768 C T rs79448470 HELZ2 Synonymous SNV S1727S 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 11.64 59880 chr8 144732143 144732143 C T rs775106918 ZNF623 Nonsynonymous SNV T34M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.883 59881 chr1 46655645 46655645 C T rs74374973 POMGNT1 Nonsynonymous SNV D534N 0.014 0.013 0.003 4 17 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 27 59882 chr8 144732319 144732319 A G rs141901810 ZNF623 Nonsynonymous SNV T93A 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 10.72 59883 chr1 46658217 46658217 C T rs41292143 POMGNT1 Synonymous SNV L397L 0.002 0.008 0.003 5 2 3 0.013 1 0 0 0 0 Benign/Likely benign 12.95 59884 chr11 6561220 6561234 GAGCCCCCAGCCTCA - DNHD1 P1180_E1184del 0.008 0.003 0 0 9 1 0 0 0 0 0 0 59885 chr1 46768864 46768864 G C rs201408120 LRRC41 Nonsynonymous SNV P44R 0.001 0.005 0.003 5 1 2 0.013 1 0 0 0 0 17.62 59886 chr20 34214723 34214723 T C rs2425068 CPNE1, CPNE1 Synonymous SNV Q418Q 0.039 0.047 0.027 10 46 18 0.026 8 0 0 0 1 11.03 59887 chr20 60768615 60768615 G A rs6062133 MTG2 Nonsynonymous SNV G47S 0.111 0.083 0.065 31 130 32 0.079 19 4 0 1 1 0.003 59888 chr11 77920964 77920964 C T rs118006862 USP35 Nonsynonymous SNV T688M 0.023 0.021 0.027 3 27 8 0.008 8 2 0 0 0 2.441 59889 chr20 62221682 62221682 C T rs144783295 GMEB2 Synonymous SNV A451A 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 10.89 59890 chr20 60891986 60891986 G C rs41296211 LAMA5 Synonymous SNV A2535A 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 6.844 59891 chr8 144896014 144896014 C T rs367987093 SCRIB Synonymous SNV A110A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.64 59892 chr11 60899600 60899600 C A rs201088253 VPS37C Nonsynonymous SNV G254C 0.002 0 0 0 2 0 0 0 0 0 0 0 13.08 59893 chr8 144904081 144904081 G A PUF60 Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 59894 chr11 64010748 64010748 C A rs111312054 FKBP2 Synonymous SNV G83G 0.016 0.016 0.014 9 19 6 0.023 4 0 0 0 0 18.3 59895 chr21 28338581 28338581 G T rs3746840 ADAMTS5 Nonsynonymous SNV R44S 0.026 0.036 0.037 10 30 14 0.026 11 1 0 0 0 23.3 59896 chr20 62328721 62328721 A G rs41304826 TNFRSF6B Synonymous SNV P155P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 3.684 59897 chr8 144990427 144990427 G C PLEC Nonsynonymous SNV S4507C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 59898 chr8 145000021 145000021 C T rs574482100 PLEC Nonsynonymous SNV R1345H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 59899 chr20 62378531 62378531 C T rs376393528 ZBTB46 Nonsynonymous SNV G508S 0.003 0.01 0 5 3 4 0.013 0 0 0 0 0 12.96 59900 chr8 145065613 145065613 C T GRINA Synonymous SNV Y74Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 59901 chr21 31587859 31587859 T C rs685967 CLDN8 Nonsynonymous SNV T129A 0.043 0.034 0.078 20 51 13 0.051 23 3 0 0 0 0.643 59902 chr20 60966460 60966460 C G rs61742254 CABLES2 Nonsynonymous SNV V381L 0.026 0.023 0.017 13 31 9 0.033 5 0 0 0 0 25.1 59903 chr20 656181 656181 G A rs76595598 SCRT2 Nonsynonymous SNV A22V 0.056 0.036 0.054 25 66 14 0.064 16 3 0 0 2 22.5 59904 chr21 31655176 31655176 A G rs369673545 KRTAP24-1 Synonymous SNV Y25Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.002 59905 chr11 64564481 64564481 G A rs763743342 MAP4K2 Synonymous SNV H452H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 10.81 59906 chr20 61528090 61528090 G A rs141286941 DIDO1 Nonsynonymous SNV P616L 0.009 0.016 0.01 6 11 6 0.015 3 0 0 0 0 6.977 59907 chr11 62434279 62434279 T C rs368690203 CSKMT Nonsynonymous SNV L160P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 24.3 59908 chr20 10030280 10030280 A G rs139125291 ANKEF1 Nonsynonymous SNV S355G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 59909 chr8 145641417 145641417 G A rs117535951 SLC39A4 Nonsynonymous SNV P59L 0.045 0.023 0.048 11 53 9 0.028 14 1 0 0 0 Benign/Likely benign 9.082 59910 chr21 33044378 33044378 G A rs73201505 SCAF4 Synonymous SNV G911G 0.038 0.021 0.02 7 45 8 0.018 6 1 0 0 0 6.557 59911 chr11 64809030 64809030 G C rs990773041 SAC3D1 Nonsynonymous SNV S89T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 1.346 59912 chr21 33074633 33074633 A G rs2202128 SCAF4 Synonymous SNV I112I 0.049 0.023 0.027 9 57 9 0.023 8 1 0 0 0 6.332 59913 chr21 15599299 15599299 T A rs188004661 RBM11 Synonymous SNV V184V 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 9.19 59914 chr8 145737065 145737065 G A rs746323102 RECQL4 Synonymous SNV I1167I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.909 59915 chr20 61943803 61943803 C T rs6011729 COL20A1 Nonsynonymous SNV T612M 0.076 0.099 0.024 38 89 38 0.097 7 5 2 1 0 0.26 59916 chr20 43090825 43090825 A C rs138536641 LINC01620 0.012 0.008 0.02 7 14 3 0.018 6 0 0 0 0 0.004 59917 chr8 145738813 145738813 C T rs559066300 RECQL4 Nonsynonymous SNV R751Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.8 59918 chr11 65270090 65270090 - T rs764692373 MALAT1, TALAM1 0.024 0.036 0.007 11 28 14 0.028 2 1 0 0 0 59919 chr11 8641037 8641037 T C rs117879704 TRIM66 Nonsynonymous SNV I1089V 0.014 0.018 0.007 3 17 7 0.008 2 0 0 0 0 23 59920 chr21 28210549 28210549 G A rs144090766 ADAMTS1 Synonymous SNV I751I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.04 59921 chr1 55464922 55464922 C T rs141611486 BSND Synonymous SNV L21L 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 Benign/Likely benign 10.49 59922 chr21 28211991 28211991 T C rs201060642 ADAMTS1 Nonsynonymous SNV K648R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 59923 chr8 146203412 146203412 A G rs2979109 ZNF252P 0 0 0.432 0 0 0 0 127 0 0 26 0 0.823 59924 chr11 63884923 63884923 C T rs138676741 FLRT1 Nonsynonymous SNV T395M 0.003 0.018 0 3 4 7 0.008 0 0 0 0 0 Likely benign 22.3 59925 chr21 34922173 34922173 A G rs79746820 SON Synonymous SNV A212A 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 3.878 59926 chr11 63885572 63885572 C T rs147439962 FLRT1 Synonymous SNV I611I 0.005 0.018 0 3 6 7 0.008 0 0 0 0 0 Benign 7.732 59927 chr21 35260544 35260544 C T rs2834286 ITSN1 Synonymous SNV H1697H 0.017 0.013 0.014 2 20 5 0.005 4 2 0 0 0 17.04 59928 chr21 30318207 30318207 T C rs2250574 LTN1 Synonymous SNV L1216L 0.074 0.06 0.099 41 87 23 0.105 29 3 0 2 4 4.538 59929 chr1 57431589 57431589 C T rs766065295 C8B Synonymous SNV A11A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.85 59930 chr11 64056629 64056629 C T rs112280262 GPR137 Nonsynonymous SNV A349V 0.021 0.029 0.003 8 25 11 0.021 1 1 0 0 0 10.15 59931 chr20 1592048 1592048 G - rs372728073 SIRPB1 H130Tfs*36 0.023 0.021 0.014 4 27 8 0.01 4 13 4 2 2 59932 chr21 37660316 37660316 C T rs148850314 DOP1B Synonymous SNV R2055R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 59933 chr20 62331989 62331989 T G rs1048665 ARFRP1 Synonymous SNV R114R 0.203 0.206 0.17 86 238 79 0.221 50 20 8 3 10 0.068 59934 chr11 64503429 64503429 C T rs746833917 RASGRP2 Synonymous SNV T373T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 59935 chr20 45133290 45133290 A G rs41283034 ZNF334 Nonsynonymous SNV C15R 0.011 0.008 0.017 2 13 3 0.005 5 0 0 0 0 6.802 59936 chr20 16354949 16354949 C A rs61738023 KIF16B Nonsynonymous SNV L1101F 0.018 0.01 0.014 12 21 4 0.031 4 0 0 0 0 0.252 59937 chr21 33044590 33044590 G A SCAF4 Nonsynonymous SNV L841F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 59938 chr11 64678098 64678098 C T rs77833427 ATG2A Nonsynonymous SNV R566H 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 22.8 59939 chr20 16360177 16360177 G T rs2236144 KIF16B Nonsynonymous SNV R824S 0.018 0.01 0.014 12 21 4 0.031 4 0 0 0 0 10.42 59940 chr20 16360219 16360219 C T rs2236145 KIF16B Nonsynonymous SNV G810R 0.018 0.01 0.014 12 21 4 0.031 4 0 0 0 0 9.287 59941 chr8 2092718 2092718 C T rs147501499 MYOM2 Nonsynonymous SNV T1404I 0.003 0 0.014 0 3 0 0 4 0 0 0 0 28.3 59942 chr20 7963041 7963041 C T rs2076015 TMX4 Nonsynonymous SNV G303R 0.085 0.07 0.088 24 100 27 0.062 26 3 0 2 2 0.104 59943 chr11 64875429 64875429 C T VPS51 Synonymous SNV R220R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 59944 chr20 17639893 17639893 T C rs12481263 RRBP1 Synonymous SNV K420K 0.057 0.052 0.044 25 67 20 0.064 13 0 0 0 0 0.133 59945 chr20 17639947 17639947 A G rs112484631 RRBP1 Synonymous SNV A402A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.315 59946 chr8 22447151 22447151 G A rs146059951 PDLIM2 Synonymous SNV S220S 0.006 0.01 0.02 2 7 4 0.005 6 0 0 0 0 15.08 59947 chr11 67414352 67414352 G C rs138978537 ACY3 Nonsynonymous SNV P55A 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 22.4 59948 chr21 43169357 43169357 C T rs2838114 RIPK4 Synonymous SNV A210A 0.065 0.047 0.051 25 76 18 0.064 15 2 1 0 0 Likely benign 17.66 59949 chr21 43187043 43187043 C T rs6586238 RIPK4 Synonymous SNV S53S 0.078 0.086 0.071 35 92 33 0.09 21 5 5 0 0 Likely benign 22.8 59950 chr21 43187167 43187167 G C rs6586239 RIPK4 Nonsynonymous SNV A12G 0.114 0.128 0.136 51 134 49 0.131 40 6 6 3 3 Benign 16.89 59951 chr21 35468746 35468746 T G rs769874431 SLC5A3 Nonsynonymous SNV F417V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.52 59952 chr21 43224766 43224766 C T rs61744413 PRDM15 Synonymous SNV A924A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 14.13 59953 chr20 18414309 18414309 C T rs79400176 DZANK1 Nonsynonymous SNV S110N 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 9.094 59954 chr21 19687506 19687506 G A rs148711749 TMPRSS15 Synonymous SNV D663D 0.009 0.016 0.007 4 11 6 0.01 2 0 0 0 0 Benign 1.023 59955 chr21 19726138 19726138 G A rs34162864 TMPRSS15 Nonsynonymous SNV S308F 0.021 0.029 0.031 14 25 11 0.036 9 0 0 2 1 28.9 59956 chr11 65350826 65350826 A T rs185157950 EHBP1L1 Nonsynonymous SNV S895C 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 21.3 59957 chr11 65359535 65359535 C G rs14199 EHBP1L1 Synonymous SNV V724V 0.017 0.036 0.027 5 20 14 0.013 8 0 1 1 0 16.04 59958 chr11 68527074 68527074 T C rs151271754 CPT1A Nonsynonymous SNV N733S 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.43 59959 chr1 65849887 65849887 G A rs61753391 DNAJC6 Synonymous SNV A226A 0.027 0.023 0.037 16 32 9 0.041 11 1 0 1 1 Benign 13.36 59960 chr1 65858151 65858151 C T rs11208644 DNAJC6 Synonymous SNV H502H 0.007 0.008 0.02 2 8 3 0.005 6 0 0 0 0 15.88 59961 chr11 65387052 65387052 C T rs147420979 PCNX3 Nonsynonymous SNV R584W 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 33 59962 chr1 65860660 65860660 T C rs12077111 DNAJC6 Synonymous SNV S661S 0.007 0.008 0.02 2 8 3 0.005 6 0 0 0 0 0.017 59963 chr21 27284187 27284187 G A rs754790092 APP Nonsynonymous SNV A461V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 59964 chr11 65414368 65414368 G A rs75894763 SIPA1 Synonymous SNV V621V 0.027 0.039 0.031 10 32 15 0.026 9 2 0 0 0 11.86 59965 chr11 17544429 17544429 C T rs778447994 USH1C Synonymous SNV A288A 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.73 59966 chr1 67105498 67105498 A G SGIP1 Synonymous SNV E46E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.714 59967 chr21 43735517 43735517 C T rs200980991 TFF3 Nonsynonymous SNV V4I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.01 59968 chr21 43809092 43809092 C T rs45598239 TMPRSS3 Nonsynonymous SNV A90T 0.04 0.039 0.007 15 47 15 0.038 2 2 0 0 0 Benign/Likely benign 22.9 59969 chr20 19665854 19665854 A C rs762077074 SLC24A3 Synonymous SNV P391P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.353 59970 chr20 19915769 19915769 C T rs181853315 RIN2 Synonymous SNV I28I 0.003 0.005 0.007 5 4 2 0.013 2 0 0 0 0 Likely benign 18.37 59971 chr11 112085537 112085537 G A rs139612323 BCO2 Nonsynonymous SNV G389D 0.009 0 0.003 3 10 0 0.008 1 0 0 0 0 28.3 59972 chr21 40641858 40641858 T G rs61740760 BRWD1 Synonymous SNV T499T 0.023 0.029 0.014 10 27 11 0.026 4 0 0 0 0 6.072 59973 chr20 20177304 20177304 T C CFAP61 Nonsynonymous SNV F561L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 59974 chr20 57290395 57290395 G A rs368572124 STX16-NPEPL1 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 1.856 59975 chr8 29924436 29924436 - GTGAACTCAGACTTAAAGCCTGGGGGAGGAGGTCCTGCTGAGTTGGTGAATCTCTGG SARAF 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 59976 chr11 74208359 74208359 C T rs80140351 LOC100287896 Nonsynonymous SNV R137C 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 3.372 59977 chr21 45733894 45733894 G T rs61737076 PFKL Nonsynonymous SNV R246M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 59978 chr11 67074880 67074880 T C rs756397595 SSH3 Nonsynonymous SNV F192S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 26.4 59979 chr11 75907721 75907721 G A rs200871564 WNT11 Nonsynonymous SNV T42M 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 27.9 59980 chr8 328775 328775 G A rs77056034 FAM87A 0 0 0.01 0 0 0 0 3 0 0 0 0 3.392 59981 chr21 43523966 43523966 C A UMODL1-AS1 0.004 0 0 1 5 0 0.003 0 0 0 0 0 16.28 59982 chr21 36042579 36042579 C G rs13049028 CLIC6 Nonsynonymous SNV Q298E 0.075 0.083 0.068 24 88 32 0.062 20 13 8 0 1 0.002 59983 chr21 36042584 36042584 G A rs13049239 CLIC6 Synonymous SNV S299S 0.073 0.086 0.068 24 86 33 0.062 20 14 8 0 1 12.36 59984 chr11 76507403 76507403 G A rs11236938 TSKU Nonsynonymous SNV S248N 0.012 0.013 0.027 8 14 5 0.021 8 0 0 0 0 0.342 59985 chr21 37510194 37510194 A G CBR3 Nonsynonymous SNV M121V 0.001 0 0 6 1 0 0.015 0 0 0 0 0 0.003 59986 chr8 37963239 37963239 C T rs2073351 ASH2L Synonymous SNV S57S 0.013 0.01 0.007 10 15 4 0.026 2 1 0 0 0 17.61 59987 chr8 38034402 38034402 G A rs61731143 BAG4 Synonymous SNV R5R 0.015 0.023 0.01 6 18 9 0.015 3 0 0 0 0 13.39 59988 chr21 46387009 46387009 C T rs138283625 FAM207A Nonsynonymous SNV T138M 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 23.2 59989 chr21 37758481 37758481 T C rs143543321 CHAF1B Nonsynonymous SNV V16A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 27 59990 chr11 77413429 77413429 T C rs149599829 RSF1 Nonsynonymous SNV D282G 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 13.12 59991 chr8 39311600 39311600 C T rs7813010 ADAM3A 0 0 0.796 0 0 0 0 234 0 0 117 0 8.857 59992 chr11 30433063 30433063 C T rs75132287 MPPED2 Synonymous SNV P279P 0.005 0.005 0.014 0 6 2 0 4 0 0 0 0 13.23 59993 chr1 86826169 86826169 G A rs12758659 ODF2L Synonymous SNV L238L 0.05 0.016 0.007 10 59 6 0.026 2 0 0 0 0 11.61 59994 chr11 118502172 118502172 C T rs35435609 PHLDB1 Synonymous SNV S692S 0.055 0.029 0.082 22 64 11 0.056 24 1 0 0 0 15.3 59995 chr11 31653913 31653913 T A ELP4 Synonymous SNV L297L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.68 59996 chr8 48102786 48102786 C T rs13259872 LOC100287846 0 0 0.493 0 0 0 0 145 0 0 47 0 1.958 59997 chr21 38600591 38600591 C A VPS26C Synonymous SNV L72L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.03 59998 chr11 32953584 32953584 T C rs766717922 QSER1 Synonymous SNV S260S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.052 59999 chr8 52339311 52339311 T C rs184738185 PXDNL Synonymous SNV A511A 0.009 0.008 0.007 6 11 3 0.015 2 1 0 0 0 0.476 60000 chr20 60909030 60909030 G A LAMA5 Synonymous SNV V935V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 6.852 60001 chr11 32955122 32955122 A G rs2297781 QSER1 Nonsynonymous SNV Q773R 0.072 0.073 0.075 26 85 28 0.067 22 3 1 0 1 3.288 60002 chr8 54141893 54141893 G T rs777121921 OPRK1 Stop gain Y369X 0 0 0.007 0 0 0 0 2 0 0 0 0 35 60003 chr1 86959205 86959205 A C CLCA1 Nonsynonymous SNV S535R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 60004 chr11 33049341 33049341 G A rs34161108 DEPDC7 Nonsynonymous SNV A192T 0.053 0.076 0.051 9 62 29 0.023 15 3 1 1 0 10.17 60005 chr8 56365787 56365787 G - rs150438620 SBF1P1 0 0 0.119 0 0 0 0 35 0 0 1 0 60006 chr20 31385028 31385028 C T rs6119965 DNMT3B Synonymous SNV D375D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.32 60007 chr21 41684090 41684090 C T rs34336407 DSCAM Synonymous SNV S660S 0.084 0.065 0.037 47 99 25 0.121 11 5 1 0 2 16.52 60008 chr8 57358682 57358682 G C rs1975285 LOC101929415 0 0 0.622 0 0 0 0 183 0 0 69 0 8.102 60009 chr20 31481077 31481077 C T rs73904069 EFCAB8 Nonsynonymous SNV R286C 0.01 0.01 0.027 0 12 4 0 8 0 0 0 0 23.9 60010 chr21 47717508 47717508 G A rs547409551 YBEY Nonsynonymous SNV R112Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 60011 chr20 31497682 31497682 G T rs78951406 EFCAB8 Nonsynonymous SNV R501M 0.013 0.008 0.031 2 15 3 0.005 9 0 0 0 0 2.288 60012 chr8 61878921 61878921 T A rs35585682 LOC100130298 0 0 0.15 0 0 0 0 44 0 0 4 0 6.999 60013 chr11 73020027 73020027 C T rs138821110 ARHGEF17 Nonsynonymous SNV A115V 0.019 0.005 0.017 7 22 2 0.018 5 0 0 0 0 23.4 60014 chr11 73073258 73073258 G T rs148923147 ARHGEF17 Synonymous SNV V1556V 0.018 0.005 0.017 7 21 2 0.018 5 0 0 0 0 10.76 60015 chr11 73105341 73105341 C T rs141813904 RELT Nonsynonymous SNV T256M 0.019 0.005 0.017 6 22 2 0.015 5 0 0 0 0 31 60016 chr11 73106186 73106186 G A rs34304845 RELT Synonymous SNV V367V 0.021 0.005 0.02 6 25 2 0.015 6 0 0 0 0 12.84 60017 chr20 31628100 31628100 T A rs73904431 BPIFB6 Nonsynonymous SNV L373Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.5 60018 chr11 73584369 73584369 C T rs35586999 COA4 Nonsynonymous SNV D19N 0.014 0.018 0.014 4 17 7 0.01 4 0 0 0 0 21.9 60019 chr20 31644436 31644436 A C rs35539872 BPIFB3 Synonymous SNV G71G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.624 60020 chr8 6371303 6371303 A G rs17063434 ANGPT2 Synonymous SNV N313N 0.05 0.047 0.065 16 59 18 0.041 19 0 0 0 1 Likely benign 7.41 60021 chr11 73739420 73739420 T C rs199993353 C2CD3 Nonsynonymous SNV N2278S 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 Uncertain significance 23.2 60022 chr21 46896381 46896381 G T rs17338853 COL18A1 Synonymous SNV V485V 0.047 0.031 0.088 23 55 12 0.059 26 1 0 0 0 Benign 0.618 60023 chr8 65494231 65494231 T C BHLHE22 Nonsynonymous SNV M295T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 60024 chr11 89896537 89896537 A G rs80078229 NAALAD2 Nonsynonymous SNV T346A 0.017 0.016 0.01 3 20 6 0.008 3 1 0 0 0 22.4 60025 chr20 31812206 31812206 A G rs112731808 BPIFA3 Nonsynonymous SNV I108M 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 0.031 60026 chr20 31814277 31814277 C T rs74640466 BPIFA3 Nonsynonymous SNV P165L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.8 60027 chr8 68204326 68204326 C A ARFGEF1 Nonsynonymous SNV R224S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 60028 chr11 74547232 74547232 C T rs117602103 RNF169 Synonymous SNV T528T 0.013 0.016 0.01 7 15 6 0.018 3 0 0 0 0 9.502 60029 chr11 44297081 44297081 G T rs61737295 ALX4 Synonymous SNV L198L 0.004 0.005 0.02 0 5 2 0 6 0 0 0 0 Benign 6.434 60030 chr11 92914937 92914937 T C rs76786276 SLC36A4 Synonymous SNV T125T 0.008 0.008 0.007 7 9 3 0.018 2 0 0 0 0 7.263 60031 chr21 47419603 47419603 G A rs74852641 COL6A1 Synonymous SNV P591P 0.003 0 0.01 1 4 0 0.003 3 0 0 1 0 Benign 11.88 60032 chr20 31967273 31967273 A G rs6057835 CDK5RAP1 Synonymous SNV P367P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.881 60033 chr11 44931340 44931340 C T rs141562867 TSPAN18 Synonymous SNV L50L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 14.74 60034 chr20 31984599 31984599 A G rs35633148 CDK5RAP1 Nonsynonymous SNV M91T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 60035 chr11 93212245 93212245 C T rs3207348 SMCO4 Synonymous SNV T37T 0.127 0.13 0.129 51 149 50 0.131 38 13 2 3 3 17.3 60036 chr20 32000483 32000483 A G rs73270015 SNTA1 Synonymous SNV N269N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.026 60037 chr11 122944293 122944293 C T rs142456942 CLMP Synonymous SNV G337G 0.005 0.003 0 5 6 1 0.013 0 1 0 0 0 Benign 7.859 60038 chr20 32439897 32439897 G A rs370101047 CHMP4B Synonymous SNV A166A 0.007 0.005 0 6 8 2 0.015 0 0 0 0 1 15.11 60039 chr21 47704253 47704253 G C rs138591880 MCM3AP Synonymous SNV S316S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 0.134 60040 chr11 123754822 123754822 C T rs185003678 TMEM225 Nonsynonymous SNV M141I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.302 60041 chr11 46387843 46387843 G A rs191462113 DGKZ Nonsynonymous SNV V13M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21 60042 chr20 33337979 33337979 C T NCOA6 Synonymous SNV S673S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.28 60043 chr21 47754471 47754471 - TGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA rs797045878 PCNT Q50_R51insHGMFTVSDHPPEQ 0.112 0.107 0.078 48 132 41 0.123 23 23 4 0 10 60044 chr20 33575434 33575434 C T rs45522831 MYH7B Nonsynonymous SNV R450C 0.013 0.005 0.01 3 15 2 0.008 3 0 0 0 0 Likely benign 34 60045 chr21 43979127 43979127 C T rs118032072 SLC37A1 Synonymous SNV H303H 0.051 0.047 0.082 24 60 18 0.062 24 3 0 0 1 10.72 60046 chr11 76826545 76826545 A G rs143460583 CAPN5 Synonymous SNV L268L 0.009 0.016 0.007 2 11 6 0.005 2 0 0 0 0 Benign 7.755 60047 chr11 77091030 77091030 T C PAK1 Nonsynonymous SNV K67R 0.004 0.018 0 0 5 7 0 0 0 0 0 0 14.56 60048 chr11 123813720 123813720 C T rs139333041 OR6T1 Nonsynonymous SNV V276I 0.037 0.023 0.044 20 44 9 0.051 13 0 0 1 1 8.254 60049 chr20 33703677 33703677 C T rs758206614 EDEM2, MMP24-AS1-EDEM2 Synonymous SNV E395E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 60050 chr8 77896133 77896133 T A rs140963177 PEX2 Nonsynonymous SNV R94S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.361 60051 chr8 80677527 80677527 A G rs61753715 HEY1 Nonsynonymous SNV F181L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.57 60052 chr21 48081808 48081808 G A rs142055128 PRMT2 Nonsynonymous SNV G251R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 25.3 60053 chr22 17589825 17589825 C G rs549305543 IL17RA Nonsynonymous SNV D538E 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 0.001 60054 chr22 17590235 17590235 C T rs757383824 IL17RA Nonsynonymous SNV P675L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Uncertain significance 0.005 60055 chr11 78482155 78482155 G A rs116862565 TENM4 Synonymous SNV N807N 0.013 0.023 0.027 2 15 9 0.005 8 0 0 0 0 9.32 60056 chr22 17600689 17600689 G A rs61741012 TMEM121B Synonymous SNV L443L 0.042 0.021 0.02 9 49 8 0.023 6 0 0 0 0 8.434 60057 chr11 47753091 47753091 C A FNBP4 Nonsynonymous SNV V617L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.5 60058 chr11 82959238 82959238 C G rs71465535 ANKRD42 Nonsynonymous SNV L526V 0.004 0 0.017 1 5 0 0.003 5 0 0 0 0 3.637 60059 chr22 17670877 17670877 C T rs146597836 ADA2 Nonsynonymous SNV M68I 0.019 0.01 0.003 5 22 4 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.643 60060 chr20 36641871 36641871 G A rs117364049 TTI1 Synonymous SNV S116S 0.011 0.016 0.01 9 13 6 0.023 3 0 0 0 0 1.281 60061 chr21 45502870 45502870 C T rs78000952 TRAPPC10 Nonsynonymous SNV A175V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 60062 chr22 20103263 20103263 G T rs9605067 TRMT2A Nonsynonymous SNV L214I 0.02 0.023 0.014 10 23 9 0.026 4 0 0 0 0 3.068 60063 chr22 20103264 20103264 C T rs9605068 TRMT2A Synonymous SNV L213L 0.02 0.023 0.014 10 23 9 0.026 4 0 0 0 0 11.6 60064 chr21 45705952 45705952 C T rs371796437 AIRE Synonymous SNV A21A 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 Benign/Likely benign 17.19 60065 chr11 95825755 95825755 G C rs61749251 MAML2 Nonsynonymous SNV I480M 0.047 0.065 0.027 16 55 25 0.041 8 1 0 0 0 9.6 60066 chr22 20779822 20779822 G C rs874100 SCARF2 Nonsynonymous SNV R819G 0.163 0.156 0.299 84 191 60 0.215 88 59 16 13 26 Benign 6.899 60067 chr21 45746115 45746115 C A rs148807445 PFKL Synonymous SNV P721P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.7 60068 chr1 94467548 94467548 C G rs41292677 ABCA4 Nonsynonymous SNV V2050L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 60069 chr21 45825819 45825819 G A rs200076130 TRPM2 Nonsynonymous SNV V897I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.814 60070 chr22 19903312 19903312 G A rs752481782 TXNRD2 Synonymous SNV C168C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 4.407 60071 chr20 944718 944718 T G rs191521473 RSPO4 Nonsynonymous SNV H152P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.728 60072 chr22 21376997 21376997 C T rs572865965 P2RX6 Synonymous SNV V114V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.82 60073 chr20 36954670 36954670 G A rs137967923 BPI Nonsynonymous SNV A333T 0.014 0.005 0.003 4 16 2 0.01 1 0 0 0 1 Likely benign 17.25 60074 chr21 15524921 15524921 C T rs74369337 LIPI Nonsynonymous SNV G334E 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 26.8 60075 chr11 102272884 102272884 C T rs2155587 TMEM123 Nonsynonymous SNV V71M 0.044 0.049 0.024 17 52 19 0.044 7 0 1 0 0 6.118 60076 chr8 96313367 96313367 C A rs72666123 C8orf37-AS1 0 0 0.238 0 0 0 0 70 0 0 10 0 12.68 60077 chr1 9642424 9642424 G C rs61741102 SLC25A33 Synonymous SNV L277L 0.049 0.039 0.061 15 58 15 0.038 18 0 0 0 0 5.176 60078 chr1 9670820 9670820 T C rs1029002834 TMEM201 Synonymous SNV H574H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 60079 chr22 19969495 19969495 G T rs33992092 ARVCF Synonymous SNV V110V 0.009 0.013 0.007 2 11 5 0.005 2 0 0 0 0 Benign 2.726 60080 chr22 20074006 20074006 A G rs35987994 DGCR8 Nonsynonymous SNV I174V 0.033 0.049 0.031 11 39 19 0.028 9 1 1 0 0 0.001 60081 chr11 124624616 124624616 G A rs116076022 ESAM Synonymous SNV S217S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 13.01 60082 chr22 20126741 20126741 G T rs61737216 ZDHHC8 Synonymous SNV V43V 0.032 0.049 0.031 11 38 19 0.028 9 1 1 0 0 11.09 60083 chr20 37659414 37659414 C T rs149376135 DHX35 Nonsynonymous SNV R620C 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 35 60084 chr8 99608338 99608338 G A rs779880596 STK3 Synonymous SNV S137S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 60085 chr21 47423688 47423688 G A rs771844518 COL6A1 Nonsynonymous SNV A950T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 23.3 60086 chr22 21407656 21407656 T C rs59837066 LRRC74B Nonsynonymous SNV I247T 0.015 0.023 0.027 11 18 9 0.028 8 0 0 0 0 23.1 60087 chr9 100245206 100245206 C T rs140697341 TDRD7 Nonsynonymous SNV R756C 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Uncertain significance 34 60088 chr22 22277571 22277571 A C rs2070507 PPM1F Nonsynonymous SNV L420R 0.034 0.018 0.051 12 40 7 0.031 15 1 0 1 0 26.5 60089 chr20 40049698 40049698 C T rs151251513 CHD6 Synonymous SNV L1859L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.403 60090 chr9 100840540 100840540 G A rs758657004 NANS Nonsynonymous SNV V172M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 60091 chr9 100889003 100889003 C T rs146552729 CORO2A Nonsynonymous SNV R425Q 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 0.011 60092 chr20 42744601 42744601 G A rs377366285 JPH2 Nonsynonymous SNV R572C 0.012 0.008 0 4 14 3 0.01 0 0 0 0 0 Uncertain significance 27.2 60093 chr21 47738004 47738004 C T rs141733450 C21orf58 Synonymous SNV S77S 0.014 0.018 0.007 11 16 7 0.028 2 0 0 0 0 13.23 60094 chr9 101748382 101748382 C T rs753527788 COL15A1 Synonymous SNV L212L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.641 60095 chr9 102730785 102730785 A T STX17 Nonsynonymous SNV I247F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 60096 chr22 24237189 24237189 C T rs33958703 MIF-AS1 0.037 0.034 0.041 24 43 13 0.062 12 2 0 0 1 9.902 60097 chr22 24717860 24717860 C T rs200945850 SPECC1L Synonymous SNV S304S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 60098 chr11 108047013 108047013 A C rs200595874 NPAT Synonymous SNV T364T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 0.64 60099 chr22 17566001 17566001 C T rs143652002 IL17RA Nonsynonymous SNV P7L 0.009 0.018 0.003 5 10 7 0.013 1 0 0 0 0 Likely benign 3.005 60100 chr21 33642808 33642808 G A rs200789498 MIS18A Nonsynonymous SNV S145L 0.007 0.01 0 0 8 4 0 0 0 0 0 0 21.3 60101 chr22 24109583 24109583 G A rs775332895 CHCHD10 Nonsynonymous SNV P80L 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 60102 chr21 33984477 33984477 T G rs138178722 C21orf59-TCP10L, CFAP298 Nonsynonymous SNV E26A 0.006 0.003 0.014 4 7 1 0.01 4 0 0 0 0 Benign 18.12 60103 chr9 109690850 109690850 G C rs769096951 ZNF462 Nonsynonymous SNV E1553Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 60104 chr21 34011412 34011412 G A rs2230766 SYNJ1 Synonymous SNV L1194L 0.075 0.057 0.068 27 88 22 0.069 20 4 0 2 2 Benign 10.2 60105 chr9 111668652 111668652 C T rs838827 ELP1 Nonsynonymous SNV R176Q 0.06 0.049 0.051 25 70 19 0.064 15 4 0 0 1 Benign 7.603 60106 chr11 103026146 103026146 T C rs118191062 DYNC2H1 Synonymous SNV P1220P 0.033 0.023 0.02 5 39 9 0.013 6 0 1 0 0 Conflicting interpretations of pathogenicity 0.595 60107 chr11 133790592 133790592 G C rs377729899 IGSF9B Nonsynonymous SNV P1010A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.169 60108 chr22 25124155 25124155 C T rs148034582 PIWIL3 Nonsynonymous SNV V641M 0.014 0.016 0.01 2 16 6 0.005 3 0 0 0 0 24.6 60109 chr20 45216784 45216784 A T rs35393013 SLC13A3 Synonymous SNV V295V 0.03 0.029 0.017 10 35 11 0.026 5 0 0 0 0 0.007 60110 chr21 35469405 35469405 A G rs141909962 SLC5A3 Synonymous SNV A636A 0.012 0.01 0.017 2 14 4 0.005 5 0 0 0 0 3.454 60111 chr9 113244732 113244732 G T rs41296069 SVEP1 Nonsynonymous SNV D693E 0.083 0.068 0.099 33 98 26 0.085 29 5 2 0 3 9.692 60112 chr22 19839418 19839418 C A rs34027839 RTL10 Nonsynonymous SNV D123Y 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 23.8 60113 chr11 113675654 113675654 T C rs61760222 USP28 Nonsynonymous SNV K506E 0.007 0.013 0 5 8 5 0.013 0 0 0 0 0 22.2 60114 chr20 46300969 46300969 C T rs753997475 SULF2 Nonsynonymous SNV G517R 0.014 0.008 0 5 16 3 0.013 0 1 0 0 0 22.2 60115 chr22 29976979 29976979 C T NIPSNAP1 Synonymous SNV A31A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 60116 chr20 21493018 21493018 C G rs8192563 NKX2-2 Nonsynonymous SNV G122A 0.035 0.039 0.024 12 41 15 0.031 7 2 0 0 0 12.3 60117 chr22 30688488 30688488 T C rs61730760 TBC1D10A Nonsynonymous SNV H475R 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 0.002 60118 chr9 114371322 114371322 T A rs4978450 LRRC37A5P 0 0 0.245 0 0 0 0 72 0 0 10 0 6.107 60119 chr9 114371493 114371493 C T rs12351897 LRRC37A5P 0 0 0.272 0 0 0 0 80 0 0 10 0 2.238 60120 chr20 47847651 47847651 A C rs556675382 DDX27 Synonymous SNV R406R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.428 60121 chr22 26422651 26422651 G A rs199593757 MYO18B Synonymous SNV P2238P 0.003 0 0.02 2 4 0 0.005 6 0 0 0 0 Benign 12.95 60122 chr22 26423477 26423477 G A rs7284177 MYO18B Nonsynonymous SNV G2514S 0.032 0.018 0.041 14 37 7 0.036 12 0 0 2 0 15.39 60123 chr22 20920813 20920813 - CAGCAGCAG MED15 Q191_A192insQQQ 0.002 0 0 3 2 0 0.008 0 0 0 0 0 60124 chr22 30769997 30769997 G A rs147092496 CCDC157 Nonsynonymous SNV R530Q 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 12.46 60125 chr22 30770334 30770335 AC - KIAA1656 0 0.003 0 0 0 1 0 0 0 0 0 0 60126 chr22 30776106 30776106 G C rs139785680 RNF215 Nonsynonymous SNV P318R 0.012 0.016 0.01 3 14 6 0.008 3 1 0 0 0 5.986 60127 chr11 117376425 117376425 G A rs144469984 DSCAML1 Synonymous SNV F602F 0 0 0 3 0 0 0.008 0 0 0 0 0 12.73 60128 chr20 49196284 49196284 C T rs2230604 PTPN1 Synonymous SNV P230P 0.057 0.044 0.061 32 67 17 0.082 18 1 1 1 0 17.06 60129 chr20 49446910 49446910 G A rs958729390 BCAS4 Nonsynonymous SNV R116Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.32 60130 chr9 116832007 116832007 T C rs141738059 AMBP Nonsynonymous SNV E192G 0.014 0.013 0.02 9 17 5 0.023 6 0 0 0 0 24.8 60131 chr11 111784401 111784401 G A rs4252589 HSPB2 Nonsynonymous SNV G111S 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Benign 32 60132 chr22 29913033 29913033 T C rs76322387 THOC5 Nonsynonymous SNV I556V 0.015 0.034 0 9 18 13 0.023 0 1 0 0 0 5.214 60133 chr22 30123751 30123751 C T rs4820812 CABP7 Synonymous SNV N70N 0.02 0.042 0.014 12 23 16 0.031 4 1 1 0 0 16.14 60134 chr22 30189642 30189642 C T rs61736786 ASCC2 Nonsynonymous SNV R393Q 0.016 0.021 0.024 5 19 8 0.013 7 0 1 0 0 23 60135 chr22 30198025 30198025 C T rs4823054 ASCC2 Nonsynonymous SNV R331Q 0.035 0.06 0.034 21 41 23 0.054 10 2 1 0 0 24.8 60136 chr20 53267003 53267003 C T rs150282152 DOK5 Synonymous SNV Y302Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.936 60137 chr21 42752030 42752030 G A rs142234167 MX2 Nonsynonymous SNV E177K 0.003 0 0 0 4 0 0 0 0 0 0 0 20.5 60138 chr12 4702211 4702211 A T rs55825154 DYRK4 Nonsynonymous SNV Q54H 0.015 0.029 0.01 7 18 11 0.018 3 0 0 0 0 6.973 60139 chr20 2552884 2552884 A G rs11908093 TMC2 Nonsynonymous SNV Q205R 0.09 0.078 0.054 40 106 30 0.103 16 6 3 2 4 0.019 60140 chr20 55982813 55982813 G A rs201066490 RBM38 Nonsynonymous SNV V211M 0.014 0.008 0.01 2 17 3 0.005 3 0 0 0 0 0.91 60141 chr11 113675703 113675703 A G rs373280942 USP28 Synonymous SNV D489D 0.005 0 0 3 6 0 0.008 0 0 0 0 0 7.281 60142 chr22 24717510 24717510 C T rs56168869 SPECC1L Nonsynonymous SNV L188F 0.014 0.013 0.007 6 17 5 0.015 2 0 0 0 0 Benign/Likely benign 25.6 60143 chr22 32109928 32109928 G A rs540348802 PRR14L Synonymous SNV S1299S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 60144 chr22 32445946 32445946 A G rs17683011 SLC5A1 Nonsynonymous SNV N51S 0.04 0.047 0.024 17 47 18 0.044 7 1 0 0 0 Benign 9.424 60145 chr20 2776975 2776975 C T rs41310169 CPXM1 Nonsynonymous SNV R387Q 0.009 0 0.01 3 10 0 0.008 3 0 0 0 0 34 60146 chr22 32487700 32487700 G A rs17683430 SLC5A1 Nonsynonymous SNV A284T 0.04 0.047 0.024 17 47 18 0.044 7 1 0 0 0 Benign 22.4 60147 chr22 32487744 32487744 C T rs17683448 SLC5A1 Synonymous SNV A298A 0.04 0.047 0.024 18 47 18 0.046 7 1 0 0 0 Benign 12.46 60148 chr22 32506041 32506041 A G rs17683704 SLC5A1 Synonymous SNV L485L 0.04 0.047 0.024 19 47 18 0.049 7 1 0 0 0 Benign 4.175 60149 chr22 24981938 24981938 C T rs41277315 LRRC75B Synonymous SNV A288A 0.015 0.016 0.014 7 18 6 0.018 4 0 0 0 0 12.18 60150 chr9 119160758 119160758 - A rs3040235 PAPPA-AS1 0 0 0.282 0 0 0 0 83 0 0 1 0 60151 chr22 32506050 32506050 C G rs33954001 SLC5A1 Nonsynonymous SNV H488Q 0.04 0.047 0.024 19 47 18 0.049 7 1 0 0 0 Benign 4.434 60152 chr22 32506143 32506143 C T rs33954397 SLC5A1 Synonymous SNV N519N 0.04 0.047 0.024 18 47 18 0.046 7 1 0 0 0 Benign 15.92 60153 chr22 32545762 32545762 C T rs45494991 C22orf42 Synonymous SNV K220K 0.041 0.049 0.027 18 48 19 0.046 8 2 0 0 0 7.263 60154 chr22 32554996 32554996 C T rs12160688 C22orf42 Synonymous SNV T69T 0.043 0.052 0.027 20 51 20 0.051 8 2 0 0 0 10.87 60155 chr11 116633513 116633513 G A BUD13 Synonymous SNV L264L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.809 60156 chr22 25155953 25155953 G - rs747731185 PIWIL3 Q36Rfs*41 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 60157 chr22 25251572 25251572 C A rs372141292 SGSM1 Synonymous SNV R242R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 19.99 60158 chr22 32630920 32630920 T C SLC5A4 Synonymous SNV P275P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.217 60159 chr11 123065629 123065629 A C CLMP Nonsynonymous SNV L7R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 60160 chr11 123513243 123513243 G C SCN3B Nonsynonymous SNV T119S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23 60161 chr22 26224825 26224825 A G rs200316291 MYO18B Nonsynonymous SNV K957E 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 17.37 60162 chr22 35734779 35734779 G A rs149877665 TOM1 Nonsynonymous SNV A363T 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 60163 chr22 32831711 32831711 C G rs5994570 BPIFC Nonsynonymous SNV V302L 0.052 0.07 0.071 26 61 27 0.067 21 0 0 2 2 12.82 60164 chr22 32831809 32831809 A G rs2076051 BPIFC Nonsynonymous SNV V269A 0.022 0.026 0.044 18 26 10 0.046 13 2 0 1 0 0.212 60165 chr11 117779376 117779376 G A rs3741293 TMPRSS13 Synonymous SNV D376D 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 5.747 60166 chr9 125239544 125239544 A G rs75911175 OR1J1 Nonsynonymous SNV I221T 0.045 0.036 0.054 18 53 14 0.046 16 0 0 0 0 12.75 60167 chr9 125273331 125273331 A G rs747242295 OR1J2 Nonsynonymous SNV D84G 0 0 0.007 2 0 0 0.005 2 0 0 0 0 11.38 60168 chr20 57290408 57290408 G A rs141349429 STX16-NPEPL1 0.017 0.021 0.027 3 20 8 0.008 8 0 0 0 0 3.498 60169 chr20 58567492 58567492 T C rs34866303 CDH26 Nonsynonymous SNV V448A 0.011 0.005 0.007 6 13 2 0.015 2 0 0 0 0 17.16 60170 chr20 58576449 58576449 T G rs41314912 CDH26 Nonsynonymous SNV C50G 0.015 0.023 0.017 9 18 9 0.023 5 0 0 0 0 0.026 60171 chr22 37326794 37326794 G A rs117805308 CSF2RB Nonsynonymous SNV D312N 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign 9.903 60172 chr22 28194895 28194900 TGCTGT - rs202212250 MN1 Q549_Q550del 0.049 0.063 0.048 28 58 24 0.072 14 0 1 0 0 60173 chr22 28378409 28378409 G A TTC28 Synonymous SNV L2416L 0.002 0 0 5 2 0 0.013 0 0 0 0 0 8.055 60174 chr22 36685292 36685292 G A rs139134727 MYH9 Nonsynonymous SNV R1466W 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 60175 chr20 3209012 3209012 C T rs58757394 SLC4A11 Synonymous SNV T779T 0.01 0.008 0.007 2 12 3 0.005 2 1 0 0 0 Benign/Likely benign 13.95 60176 chr22 29628260 29628260 C G rs76367973 EMID1 Nonsynonymous SNV P229R 0.035 0.042 0.017 23 41 16 0.059 5 0 1 0 2 18.3 60177 chr20 3214895 3214895 C T rs34460295 SLC4A11 Synonymous SNV A135A 0.01 0.01 0.02 3 12 4 0.008 6 0 0 0 0 Benign 16.97 60178 chr20 5935825 5935825 A G rs145133959 MCM8 Nonsynonymous SNV I138M 0.014 0.016 0.031 3 17 6 0.008 9 0 0 0 0 Benign 1.466 60179 chr20 32273924 32273924 G C rs751858610 E2F1 Synonymous SNV T49T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 2.519 60180 chr12 6934804 6934804 C T rs148277722 GPR162 Synonymous SNV C57C 0.006 0.013 0.014 4 7 5 0.01 4 0 0 0 0 17.84 60181 chr22 38026109 38026109 C T rs45440996 GGA1 Synonymous SNV D334D 0.005 0.018 0.01 1 6 7 0.003 3 0 0 0 0 18.17 60182 chr22 31008962 31008962 G A rs115272037 TCN2 Synonymous SNV R120R 0.003 0 0.003 5 3 0 0.013 1 0 0 0 0 Benign/Likely benign 2.923 60183 chr12 7090193 7090193 A G rs1984564 LPCAT3 Nonsynonymous SNV I217T 0.095 0.112 0.095 36 112 43 0.092 28 4 2 1 3 12.93 60184 chr12 7091918 7091918 C T rs3764031 LPCAT3 Synonymous SNV L95L 0.086 0.107 0.078 34 101 41 0.087 23 4 2 0 3 18.72 60185 chr21 45815307 45815307 T C rs149930126 TRPM2 Nonsynonymous SNV V602A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.27 60186 chr12 7092665 7092665 A G rs34196984 LPCAT3 Nonsynonymous SNV F63L 0.045 0.063 0.017 23 53 24 0.059 5 2 2 0 1 23 60187 chr22 31218657 31218657 T A rs557364786 OSBP2 Nonsynonymous SNV S14T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.3 60188 chr22 37900771 37900771 A G rs3817806 CARD10 Synonymous SNV C463C 0.072 0.086 0.082 29 84 33 0.074 24 4 0 1 1 5.202 60189 chr21 45817713 45817713 G A rs45622331 TRPM2 Synonymous SNV S672S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.82 60190 chr12 7125672 7125672 C G rs61733160 LPCAT3 Synonymous SNV L19L 0.045 0.063 0.024 23 53 24 0.059 7 2 2 0 1 4.224 60191 chr21 45821582 45821582 T G rs9974927 TRPM2 Nonsynonymous SNV D780E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.001 60192 chr21 45825105 45825105 C T rs149066607 TRPM2 Synonymous SNV V873V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 12.16 60193 chr20 35262953 35262953 G A rs145656453 SLA2 Nonsynonymous SNV P44L 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign 29.5 60194 chr21 45845568 45845568 C A rs200807570 TRPM2 Nonsynonymous SNV A1218E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 60195 chr20 35438474 35438474 C T rs73598376 SOGA1 Nonsynonymous SNV D832N 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 26.3 60196 chr21 45877269 45877269 G A rs75162911 LRRC3 Nonsynonymous SNV A248T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.522 60197 chr21 45928749 45928749 C T rs113161491 TSPEAR-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.01 60198 chr21 45949803 45949803 G A rs149481227 TSPEAR Nonsynonymous SNV S223L 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 60199 chr21 45953767 45953767 C T rs144586270 TSPEAR Nonsynonymous SNV D115N 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.142 60200 chr11 126141370 126141370 A C rs148346044 FOXRED1 Nonsynonymous SNV K42Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 60201 chr21 46066417 46066417 C T rs199741274 KRTAP10-11 Synonymous SNV S14S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.464 60202 chr20 61448933 61448933 C A rs2273078 COL9A3 Synonymous SNV P31P 0.097 0.07 0.092 35 114 27 0.09 27 15 1 0 1 Benign 14.32 60203 chr21 46117364 46117364 C T rs200497262 KRTAP10-12 Nonsynonymous SNV S83L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.45 60204 chr22 32784051 32784051 T C rs11635 RTCB Synonymous SNV V482V 0.043 0.07 0.048 25 50 27 0.064 14 0 0 1 0 9.732 60205 chr22 40364122 40364122 G A rs61752259 GRAP2 Nonsynonymous SNV R66Q 0.014 0.021 0.003 8 16 8 0.021 1 0 0 0 0 Benign 22.7 60206 chr9 131084628 131084628 C A rs11539570 TRUB2 Synonymous SNV G20G 0.022 0.021 0.024 14 26 8 0.036 7 0 0 0 0 22.9 60207 chr22 40036908 40036908 G A rs149938037 CACNA1I Synonymous SNV P259P 0.024 0.029 0.017 11 28 11 0.028 5 0 0 0 0 Benign/Likely benign 13.13 60208 chr22 40045537 40045537 G A rs60658758 CACNA1I Synonymous SNV A498A 0.013 0.018 0.003 9 15 7 0.023 1 0 0 0 0 Benign 7.14 60209 chr20 37199443 37199443 G A rs139543103 RALGAPB Synonymous SNV E1365E 0.012 0.016 0.007 6 14 6 0.015 2 1 0 0 0 Benign 13.43 60210 chr22 37466565 37466565 G A rs145814440 TMPRSS6 Synonymous SNV D600D 0.012 0.013 0.007 3 14 5 0.008 2 0 0 0 0 Benign 8.953 60211 chr12 10104003 10104003 T C rs118182007 CLEC12A-AS1 0.056 0.063 0.061 25 66 24 0.064 18 1 0 0 0 0.249 60212 chr22 41723218 41723218 T C ZC3H7B Synonymous SNV Y98Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.006 60213 chr20 3870079 3870079 T A rs71647828 PANK2 Nonsynonymous SNV L111Q 0.065 0.044 0.034 23 76 17 0.059 10 3 1 0 0 Benign 23.2 60214 chr9 13183486 13183486 T C rs34704118 MPDZ Synonymous SNV L860L 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 7.482 60215 chr11 58170793 58170793 G - rs200799158 OR5B3 F31Sfs*16 0.045 0.049 0.054 10 53 19 0.026 16 2 1 0 0 60216 chr22 41985797 41985797 C A rs143715682 PMM1 Nonsynonymous SNV A5S 0.041 0.018 0.003 8 48 7 0.021 1 0 0 0 0 10.74 60217 chr11 124761297 124761297 T A rs750044288 ROBO4 Nonsynonymous SNV S471C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.8 60218 chr22 42981890 42981890 G A rs137088 POLDIP3 Synonymous SNV A362A 0.142 0.154 0.167 62 167 59 0.159 49 19 4 4 3 9.85 60219 chr22 42000049 42000049 G A rs763546525 DESI1 Stop gain R97X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 38 60220 chr22 43010817 43010817 G A rs28627172 POLDIP3 Nonsynonymous SNV A16V 0.141 0.154 0.163 62 166 59 0.159 48 19 4 3 3 13.33 60221 chr20 42194989 42194989 T A rs33969356 SGK2 Nonsynonymous SNV S12T 0.03 0.021 0.031 10 35 8 0.026 9 0 0 0 0 9.833 60222 chr20 62309640 62309640 G A rs41310197 RTEL1 Synonymous SNV E103E 0.021 0.013 0.02 8 25 5 0.021 6 0 0 0 1 Benign 3.691 60223 chr22 42564719 42564719 G C rs371360841 TCF20 Synonymous SNV P1941P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 8.989 60224 chr20 42744802 42744802 C T rs140740776 JPH2 Nonsynonymous SNV G505S 0.003 0.013 0.014 4 4 5 0.01 4 0 0 0 0 Benign 4.698 60225 chr20 62321691 62321693 AGA - rs558133631 RTEL1 E548del 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 60226 chr9 132903768 132903768 A - rs11299315 GPRACR 0 0 0.207 0 0 0 0 61 0 0 0 0 60227 chr22 43572354 43572354 C T rs11704935 TTLL12 Nonsynonymous SNV V297M 0.116 0.12 0.143 35 136 46 0.09 42 5 3 5 1 11.39 60228 chr9 133511390 133511390 C T rs117877479 FUBP3 Synonymous SNV H529H 0.003 0.008 0.014 0 4 3 0 4 0 0 0 0 10.46 60229 chr20 62328480 62328480 C T rs55765053 TNFRSF6B Synonymous SNV F120F 0.02 0.029 0.034 9 23 11 0.023 10 0 0 0 1 13.05 60230 chr22 43579006 43579006 G A rs141712485 TTLL12 Synonymous SNV L109L 0.02 0.021 0.041 7 24 8 0.018 12 1 0 0 0 9.282 60231 chr20 43723573 43723573 C T rs142180542 KCNS1 Nonsynonymous SNV G507R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.6 60232 chr22 43539233 43539233 T A rs755221042 MCAT Nonsynonymous SNV D41V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 60233 chr20 62521335 62521335 A G rs41278202 TPD52L2 Synonymous SNV Q203Q 0.007 0.016 0 1 8 6 0.003 0 0 0 0 0 8.102 60234 chr12 2224511 2224511 C T rs34419050 CACNA1C Synonymous SNV D57D 0.037 0.044 0.034 13 43 17 0.033 10 3 0 1 0 Benign 13.24 60235 chr20 44004193 44004193 C T rs768421746 TP53TG5 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 60236 chr9 13408212 13408212 G A rs139407885 LINC01235 0 0 0.02 0 0 0 0 6 0 0 0 0 0.322 60237 chr9 13408341 13408341 C G rs76333404 LINC01235 0 0 0.037 0 0 0 0 11 0 0 0 0 5.193 60238 chr12 12334006 12334006 G C rs10082834 LRP6 Synonymous SNV P448P 0.067 0.078 0.082 25 79 30 0.064 24 2 3 2 2 5.718 60239 chr12 12336966 12336966 A G rs7978064 LRP6 Synonymous SNV C308C 0.064 0.073 0.088 27 75 28 0.069 26 2 3 2 3 2.444 60240 chr20 826127 826127 C T rs74457967 FAM110A Nonsynonymous SNV A227V 0.024 0.016 0.02 3 28 6 0.008 6 1 0 1 0 24.3 60241 chr20 44351095 44351095 C A rs16990631 SPINT4 Nonsynonymous SNV A30E 0.072 0.07 0.068 30 84 27 0.077 20 2 0 0 0 2.76 60242 chr22 40816543 40816543 G T rs753496354 MRTFA Nonsynonymous SNV P307T 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 0.007 60243 chr22 41257815 41257815 G A rs149771105 DNAJB7 Nonsynonymous SNV R62W 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.9 60244 chr9 134398337 134398337 C G rs768264284 POMT1 Nonsynonymous SNV S522R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.632 60245 chr20 9546554 9546554 G A rs6133723 PAK5 Synonymous SNV L490L 0.026 0.021 0.034 7 31 8 0.018 10 0 0 0 0 2.952 60246 chr12 13243536 13243536 C T rs144983335 GSG1 Nonsynonymous SNV V89M 0.01 0.013 0.007 5 12 5 0.013 2 0 1 0 0 23.8 60247 chr22 41742139 41742139 G A rs113935023 ZC3H7B Nonsynonymous SNV G531D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25 60248 chr12 14613947 14613947 G A rs777617129 ATF7IP Nonsynonymous SNV G892S 0.009 0.013 0 4 10 5 0.01 0 0 1 0 0 22.6 60249 chr12 6078424 6078424 A T rs35335161 VWF Nonsynonymous SNV F2561Y 0.037 0.049 0.027 16 43 19 0.041 8 0 0 0 0 Benign/Likely benign 22.1 60250 chr22 42307253 42307253 C T rs953888482 SHISA8 Nonsynonymous SNV G211S 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 11.91 60251 chr9 135487545 135487545 G A rs746543127 DDX31 Synonymous SNV S673S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 60252 chr9 135821099 135821099 C T rs56195815 MIR548AW 0 0 0.238 0 0 0 0 70 0 0 6 0 2.188 60253 chr11 134038928 134038928 A T rs919936802 NCAPD3 Synonymous SNV A903A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.761 60254 chr22 42611265 42611265 C G rs143525991 TCF20 Nonsynonymous SNV S16T 0.021 0.026 0.02 4 25 10 0.01 6 0 0 0 0 13.57 60255 chr22 46652736 46652736 C T rs76372072 PKDREJ Nonsynonymous SNV V2162I 0.007 0.01 0.014 2 8 4 0.005 4 0 0 0 0 2.482 60256 chr22 43089400 43089400 G A rs139550090 A4GALT Synonymous SNV F186F 0.021 0.013 0.014 3 25 5 0.008 4 0 0 0 1 11.04 60257 chr12 333225 333225 C T rs145646067 SLC6A13 Nonsynonymous SNV R323Q 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign 23.6 60258 chr12 333248 333248 A G rs138250879 SLC6A13 Synonymous SNV P315P 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign 0.221 60259 chr22 21133831 21133831 C A rs5903 SERPIND1 Nonsynonymous SNV D77E 0.009 0.003 0.01 4 10 1 0.01 3 0 0 0 0 Benign 0.065 60260 chr9 136901254 136901254 G A rs448698 BRD3 Synonymous SNV D612D 0.009 0.026 0.024 6 11 10 0.015 7 0 0 0 0 1.496 60261 chr12 665894 665894 C T rs113571884 B4GALNT3 Nonsynonymous SNV R748W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 60262 chr11 61914282 61914282 G A rs113981632 INCENP Synonymous SNV E700E 0.023 0.031 0.017 9 27 12 0.023 5 1 0 0 1 4.854 60263 chr9 137741153 137741153 - ATATCACACCTCCCAGGAACCACG MIR3689C 0 0 0.517 0 0 0 0 152 0 0 67 0 60264 chr22 43579081 43579081 C T rs59963284 TTLL12 Synonymous SNV R84R 0.02 0.029 0.017 10 24 11 0.026 5 0 2 0 0 Benign 13.13 60265 chr11 62189736 62189736 C T rs41465250 SCGB1A1 Synonymous SNV T33T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 9.243 60266 chr22 43607031 43607031 G A rs76683475 SCUBE1 Synonymous SNV P760P 0.02 0.029 0.017 10 24 11 0.026 5 0 2 0 0 10.08 60267 chr22 43608531 43608531 C T rs7284575 SCUBE1 Synonymous SNV T707T 0.045 0.086 0.037 23 53 33 0.059 11 1 3 1 0 17.28 60268 chr22 21348473 21348473 C T rs190714197 LZTR1 Synonymous SNV H510H 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 14.57 60269 chr11 62285571 62285571 C T rs112663036 AHNAK Nonsynonymous SNV V5440M 0.007 0.013 0.01 2 8 5 0.005 3 0 0 0 0 Benign 13.95 60270 chr11 62288410 62288410 T G rs149351029 AHNAK Synonymous SNV V4493V 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 11.03 60271 chr22 43616565 43616565 G C rs111740697 SCUBE1 Synonymous SNV L526L 0.023 0.029 0.01 12 27 11 0.031 3 0 2 0 0 Benign 8.974 60272 chr12 999638 999638 C T rs17755373 WNK1 Nonsynonymous SNV P1576L 0.016 0.01 0.031 9 19 4 0.023 9 0 0 0 0 Benign 19.3 60273 chr22 44028100 44028100 G A rs141654739 EFCAB6 Nonsynonymous SNV P554L 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 4.713 60274 chr21 32638963 32638963 G A rs34882418 TIAM1 Nonsynonymous SNV T109I 0.02 0.008 0.01 11 24 3 0.028 3 0 0 0 0 22.8 60275 chr12 1023218 1023218 G T rs4987207 RAD52 Stop gain S269X 0.016 0.01 0.031 9 19 4 0.023 9 0 0 0 0 32 60276 chr9 138656897 138656897 C G rs116691849 KCNT1 Synonymous SNV L307L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.96 60277 chr9 138660705 138660705 G T KCNT1 Nonsynonymous SNV V433L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 60278 chr21 33719731 33719731 G A rs371288693 URB1 Synonymous SNV H1134H 0.01 0.003 0 0 12 1 0 0 0 0 0 0 7.934 60279 chr20 48565831 48565831 G A rs41303809 RNF114 Nonsynonymous SNV R187H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 28.1 60280 chr12 7045906 7045906 - CAGCAGCAGCAG ATN1 Q502_H503insQQQQ 0 0.005 0 2 0 2 0.005 0 0 0 0 0 60281 chr22 47095235 47095235 C A rs13057352 CERK Nonsynonymous SNV L306F 0.054 0.034 0.054 13 63 13 0.033 16 1 0 1 1 25.3 60282 chr9 139621168 139621168 G A rs2275160 SNHG7 0 0 0.493 0 0 0 0 145 0 0 36 0 0.654 60283 chr22 50018311 50018311 C G rs11704583 C22orf34 Synonymous SNV L50L 0.043 0.057 0.078 16 51 22 0.041 23 0 1 2 0 0.448 60284 chr22 45132687 45132687 G A rs36082900 PRR5 Nonsynonymous SNV V148M 0.037 0.047 0.024 18 44 18 0.046 7 1 0 0 0 16.88 60285 chr22 50313894 50313894 C T rs1037578379 CRELD2 Synonymous SNV L138L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.104 60286 chr20 5283151 5283151 G A rs377074263 PROKR2 Synonymous SNV V230V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.047 60287 chr20 54824260 54824260 G T rs368205448 MC3R Nonsynonymous SNV D121Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 28.6 60288 chr11 63173982 63173982 A G rs182247457 SLC22A9 Nonsynonymous SNV M363V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.002 60289 chr22 24313746 24313746 A G rs762755472 DDT Synonymous SNV F117F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.055 60290 chr11 63585316 63585316 C T rs200041555 SPINDOC Nonsynonymous SNV P56L 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 0.029 60291 chr9 139972966 139972966 C T rs113582148 UAP1L1 Synonymous SNV T169T 0.001 0.005 0.014 0 1 2 0 4 0 0 0 0 10.79 60292 chr12 6428243 6428243 C T rs61753335 PLEKHG6 Nonsynonymous SNV A466V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.63 60293 chr22 46318883 46318883 C T rs151338959 WNT7B Synonymous SNV A301A 0.005 0.008 0 6 6 3 0.015 0 0 0 0 0 Benign 13.81 60294 chr22 46614274 46614274 C G rs1800206 PPARA Nonsynonymous SNV L162V 0.063 0.07 0.058 16 74 27 0.041 17 2 1 1 0 risk factor 22.7 60295 chr21 37418164 37418164 C A rs750918820 SETD4 Nonsynonymous SNV V148L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 60296 chr21 37418165 37418165 C G rs758942319 SETD4 Synonymous SNV V147V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 60297 chr20 5556512 5556512 G A rs2273373 GPCPD1 Nonsynonymous SNV T273I 0.03 0.026 0.051 14 35 10 0.036 15 2 0 0 0 24.1 60298 chr9 140064161 140064161 C A rs200394432 LRRC26 Nonsynonymous SNV D79Y 0.002 0 0.014 2 2 0 0.005 4 0 0 0 0 23.2 60299 chr22 50635729 50635729 C T rs141382688 TRABD Synonymous SNV T160T 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 17.23 60300 chr22 50686371 50686371 C T rs34402301 HDAC10 Nonsynonymous SNV V409I 0.076 0.068 0.095 35 89 26 0.09 28 4 2 3 0 11.55 60301 chr11 64112394 64112394 G A rs143386417 CCDC88B Nonsynonymous SNV R794Q 0.012 0.005 0.003 5 14 2 0.013 1 1 0 0 0 22.2 60302 chr12 32135236 32135236 C T rs149845190 RESF1 Synonymous SNV A449A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.6 60303 chr22 46725350 46725350 T C rs113301628 GTSE1 Synonymous SNV D674D 0.032 0.034 0.034 3 38 13 0.008 10 0 0 1 0 0.08 60304 chr9 140329478 140329478 T C rs375074535 ENTPD8 Nonsynonymous SNV Q422R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 60305 chr22 50753263 50753263 G A rs113856947 DENND6B Synonymous SNV P282P 0.007 0.008 0.02 4 8 3 0.01 6 0 0 0 0 14.5 60306 chr20 58442826 58442826 C A rs6070981 SYCP2 Synonymous SNV G1355G 0.032 0.016 0.031 16 38 6 0.041 9 2 0 0 1 11.32 60307 chr20 58452582 58452582 A G rs61733222 SYCP2 Nonsynonymous SNV M1003T 0.028 0.016 0.01 16 33 6 0.041 3 2 0 0 1 0.001 60308 chr20 58467157 58467157 G A rs6071006 SYCP2 Nonsynonymous SNV T751I 0.033 0.016 0.031 16 39 6 0.041 9 2 0 0 1 23.5 60309 chr20 58476774 58476774 G A rs6027186 SYCP2 Synonymous SNV D375D 0.038 0.023 0.027 16 45 9 0.041 8 2 0 1 1 10.79 60310 chr20 58558082 58558082 A G rs76721730 CDH26 Synonymous SNV P166P 0.014 0.01 0.017 10 17 4 0.026 5 1 0 0 0 3.072 60311 chr20 58562571 58562571 C G rs11086690 CDH26 Nonsynonymous SNV R301G 0.014 0.01 0.017 10 17 4 0.026 5 1 0 0 0 4.473 60312 chr20 58564146 58564146 A G rs28409250 CDH26 Nonsynonymous SNV N404S 0.014 0.01 0.017 10 17 4 0.026 5 1 0 0 0 0.001 60313 chr20 58576432 58576432 A G rs41310817 CDH26 Nonsynonymous SNV Q44R 0.022 0.029 0.037 14 26 11 0.036 11 1 1 0 0 0.001 60314 chr22 50943506 50943506 C T rs9616787 LMF2 Nonsynonymous SNV A387T 0.004 0.003 0.017 1 5 1 0.003 5 0 0 0 0 10.87 60315 chr22 50964259 50964259 G A rs373893793 TYMP Synonymous SNV D463D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 5.605 60316 chr22 50944518 50944518 C T rs147072080 LMF2 Synonymous SNV P215P 0.01 0.016 0.024 6 12 6 0.015 7 0 0 0 0 10.62 60317 chr22 51159293 51159293 G T rs767058690 SHANK3 Nonsynonymous SNV G1072V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 22.8 60318 chr20 5943962 5943962 C T rs146490315 MCM8 Nonsynonymous SNV R278C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 60319 chr9 14842557 14842557 T C rs1353223 FREM1 Nonsynonymous SNV I499V 0.064 0.07 0.068 37 75 27 0.095 20 2 0 3 1 Benign 23.8 60320 chr22 51064068 51064068 G A rs6151425 ARSA Synonymous SNV D383D 0.045 0.039 0.031 17 53 15 0.044 9 0 1 0 0 Benign/Likely benign 11.05 60321 chr12 45108480 45108480 T C rs17574839 NELL2 Nonsynonymous SNV N347D 0.027 0.018 0.031 7 32 7 0.018 9 3 0 0 1 12.9 60322 chr2 100210260 100210260 G A rs767880726 AFF3 Synonymous SNV P646P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.628 60323 chr11 64889034 64889034 G A rs13807 FAU Nonsynonymous SNV T53I 0.012 0.016 0.007 3 14 6 0.008 2 0 0 0 0 4.07 60324 chr11 64897510 64897510 G T rs201677782 SYVN1 Nonsynonymous SNV P457T 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 14.77 60325 chr9 18573360 18573360 G A rs13299349 MIR3152 0 0 0.272 0 0 0 0 80 0 0 12 0 0.57 60326 chr20 6069723 6069723 G A rs35413391 FERMT1 Synonymous SNV L385L 0.096 0.096 0.088 41 113 37 0.105 26 6 2 2 3 Benign 7.19 60327 chr9 18777196 18777196 A C rs41268983 ADAMTSL1 Nonsynonymous SNV E990A 0.107 0.122 0.109 43 126 47 0.11 32 7 4 2 1 12.09 60328 chr11 65168284 65168284 C T rs61740646 FRMD8 Synonymous SNV D283D 0.014 0.016 0.007 3 17 6 0.008 2 0 0 0 0 12.38 60329 chr21 43733628 43733628 C T rs118095917 TFF3 Nonsynonymous SNV V80M 0.012 0.01 0.014 0 14 4 0 4 0 0 0 0 Benign 25.8 60330 chr21 43771047 43771047 T G rs116946921 TFF2 Nonsynonymous SNV Q7P 0.009 0.01 0.01 0 10 4 0 3 0 0 0 0 13.63 60331 chr11 65366882 65366882 C T rs35487354 MAP3K11 Nonsynonymous SNV R730H 0.017 0.018 0.007 3 20 7 0.008 2 0 0 0 0 23.1 60332 chr9 21278463 21278463 A G rs10120675 IFNA22P 0 0 0.395 0 0 0 0 116 0 0 26 0 2.131 60333 chr2 102480389 102480389 C T rs757272406 MAP4K4 Nonsynonymous SNV S573F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.3 60334 chr9 27950655 27950655 G A LINGO2 Synonymous SNV A5A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 60335 chr11 65650147 65650147 T C rs41302419 CTSW Synonymous SNV T202T 0.017 0.018 0.003 6 20 7 0.015 1 0 0 0 0 1.274 60336 chr12 10959210 10959210 A C rs147209838 TAS2R8 Nonsynonymous SNV W124G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.004 60337 chr9 32500832 32500832 C T rs72710678 DDX58 Nonsynonymous SNV R71H 0.009 0.018 0.02 4 11 7 0.01 6 0 0 0 0 Benign 32 60338 chr11 65733821 65733821 C G SART1 Nonsynonymous SNV Q328E 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 3.971 60339 chr12 15731798 15731798 G A rs61754412 PTPRO Synonymous SNV L108L 0.014 0.013 0.003 4 17 5 0.01 1 0 0 0 0 Benign 10.91 60340 chr12 15776095 15776095 C T rs1126786 EPS8 Synonymous SNV L784L 0.024 0.026 0.027 8 28 10 0.021 8 0 0 0 0 Benign 12.3 60341 chr21 45928632 45928632 T G rs782451119 TSPEAR-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.461 60342 chr20 61386232 61386232 G A rs2273075 NTSR1 Nonsynonymous SNV V304I 0.025 0.01 0.01 7 29 4 0.018 3 0 0 0 0 22.7 60343 chr22 31533796 31533796 G C rs2072193 PLA2G3 Nonsynonymous SNV S322R 0.075 0.089 0.082 30 88 34 0.077 24 4 3 0 0 16.71 60344 chr20 61391522 61391522 G A rs144593693 NTSR1 Nonsynonymous SNV R387Q 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 5.673 60345 chr22 31535872 31535872 G C rs2074735 PLA2G3 Nonsynonymous SNV L157V 0.077 0.089 0.085 30 90 34 0.077 25 5 3 0 0 25.8 60346 chr12 11214336 11214336 A T rs371367179 TAS2R46 Synonymous SNV V186V 0.02 0.01 0 0 23 4 0 0 0 0 0 0 0.003 60347 chr12 11214351 11214351 G C rs748842122 TAS2R46 Nonsynonymous SNV I181M 0.02 0.008 0 0 24 3 0 0 0 0 0 0 0.001 60348 chr20 61444233 61444233 C A rs6010751 OGFR Synonymous SNV G422G 0.016 0.016 0.037 8 19 6 0.021 11 0 0 0 0 14.48 60349 chr22 31668689 31668689 C G rs201696320 LIMK2 Nonsynonymous SNV N498K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.3 60350 chr12 11214363 11214363 T C rs760466097 TAS2R46 Synonymous SNV T177T 0.021 0.005 0 0 25 2 0 0 0 0 0 0 0.004 60351 chr12 11214368 11214368 T C rs766258006 TAS2R46 Nonsynonymous SNV N176D 0.024 0.005 0.003 0 28 2 0 1 0 0 0 0 0.002 60352 chr12 11214386 11214386 T G rs200171449 TAS2R46 Nonsynonymous SNV S170R 0.025 0.008 0.003 0 29 3 0 1 0 0 0 0 0.629 60353 chr2 110310749 110310749 C A rs370265320 SEPTIN10 Nonsynonymous SNV R169L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 8.104 60354 chr11 66238831 66238831 C T rs769000410 PELI3 Nonsynonymous SNV L8F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.2 60355 chr9 35398573 35398573 G T rs201084997 UNC13B Nonsynonymous SNV S833I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 60356 chr11 67021066 67021066 A G rs34925153 KDM2A Synonymous SNV P586P 0.026 0.029 0.02 8 31 11 0.021 6 0 0 0 0 14.39 60357 chr2 10187895 10187895 T C rs753049849 KLF11 Nonsynonymous SNV V127A 0.006 0 0 4 7 0 0.01 0 0 0 0 1 Uncertain significance 0.001 60358 chr12 13102576 13102576 G A rs149059133 GPRC5D Nonsynonymous SNV T248I 0.021 0.036 0.01 9 25 14 0.023 3 0 0 0 0 23.6 60359 chr21 46924426 46924443 GGCCCCCCAGGCCCCCCA - rs766237690 COL18A1 P1124_P1126del 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 60360 chr21 46924435 46924443 GGCCCCCCA - COL18A1 P1124Tfs*137 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 60361 chr2 111887754 111887754 T G rs113135335 BCL2L11 Nonsynonymous SNV L57R 0.068 0.094 0 34 80 36 0.087 0 2 2 0 3 5.989 60362 chr9 37305609 37305609 C T rs137880533 ZCCHC7 Synonymous SNV C283C 0.016 0.013 0.02 6 19 5 0.015 6 0 1 0 0 9.26 60363 chr21 47614528 47614528 C T rs61735802 LSS Nonsynonymous SNV R542Q 0.006 0.008 0.01 1 7 3 0.003 3 0 0 1 0 Benign 23.1 60364 chr2 103095494 103095494 C T rs61731285 SLC9A4 Synonymous SNV F151F 0.003 0 0.007 6 3 0 0.015 2 0 0 0 0 11.84 60365 chr2 103130597 103130597 G A rs60883579 SLC9A4 Synonymous SNV K536K 0.003 0 0.003 6 3 0 0.015 1 0 0 0 0 11.69 60366 chr2 103324820 103324820 G A rs56156264 SLC9A2 Nonsynonymous SNV D771N 0.01 0.003 0.003 5 12 1 0.013 1 0 0 0 0 10.86 60367 chr2 118579599 118579599 A G rs149582535 DDX18 Nonsynonymous SNV I305V 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 14.79 60368 chr2 106713273 106713273 G A rs536068070 UXS1 Synonymous SNV S176S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.29 60369 chr11 68704549 68704549 - AAAGCC IGHMBP2 K870_G871insAK 0.005 0.005 0 0 6 2 0 0 0 0 0 0 60370 chr22 37469634 37469634 G A rs138915369 TMPRSS6 Nonsynonymous SNV P498L 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Uncertain significance 0.003 60371 chr12 52652243 52652243 A T rs2078294 KRT87P 0.08 0.044 0.136 32 94 17 0.082 40 29 5 6 8 14.15 60372 chr2 10915156 10915156 G A rs772489644 ATP6V1C2 Nonsynonymous SNV E262K 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 23.1 60373 chr9 69002304 69002304 C A rs78546776 MIR1299 0 0 0.405 0 0 0 0 119 0 0 0 0 6.359 60374 chr12 19472957 19472957 C T rs749201941 PLEKHA5 Synonymous SNV F707F 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 14.34 60375 chr2 109492579 109492579 A T CCDC138 Nonsynonymous SNV I577F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.01 60376 chr2 109745977 109745977 C T rs117032261 SH3RF3-AS1 0.014 0.013 0.017 8 17 5 0.021 5 1 0 0 0 18.25 60377 chr22 37906262 37906262 C T rs9610775 CARD10 Nonsynonymous SNV R289Q 0.154 0.185 0.109 53 181 71 0.136 32 18 7 4 3 23.8 60378 chr9 73225639 73225639 C G rs117283138 TRPM3 Nonsynonymous SNV E829D 0.006 0.008 0.041 0 7 3 0 12 0 0 0 0 15.7 60379 chr12 21531213 21531213 A T IAPP Synonymous SNV A41A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.019 60380 chr12 21624546 21624546 C G rs6499 RECQL Nonsynonymous SNV D495H 0.013 0.021 0.003 8 15 8 0.021 1 0 0 0 0 Benign/Likely benign 26.7 60381 chr9 74300311 74300311 - A rs36080695 CEMIP2 0 0 0.214 0 0 0 0 63 0 0 3 0 60382 chr2 113483037 113483037 A T rs13417956 NT5DC4 Nonsynonymous SNV D322V 0.029 0.021 0.01 10 34 8 0.026 3 2 0 0 0 25 60383 chr12 52827847 52827847 C T rs139460759 KRT75 Nonsynonymous SNV R81Q 0.003 0 0 0 3 0 0 0 0 0 0 0 13.36 60384 chr12 21794941 21794941 G A LDHB Synonymous SNV G180G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14.63 60385 chr2 120848049 120848049 C T rs28930677 EPB41L5 Nonsynonymous SNV H334Y 0.034 0.031 0.041 11 40 12 0.028 12 1 0 0 0 16.79 60386 chr12 52828004 52828004 G A rs200180540 KRT75 Nonsynonymous SNV R29C 0.003 0 0 0 4 0 0 0 0 0 0 0 26 60387 chr12 22015964 22015964 A G rs145561881 ABCC9 Synonymous SNV Y754Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 2.139 60388 chr2 127816695 127816695 C T rs2228955 BIN1 Synonymous SNV S243S 0.022 0.026 0.051 8 26 10 0.021 15 1 0 0 0 Benign/Likely benign 13.8 60389 chr22 18300278 18300278 C T rs200164491 MICAL3 Nonsynonymous SNV E1717K 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 26.9 60390 chr11 72319746 72319746 C T PDE2A Nonsynonymous SNV R58H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.25 60391 chr12 40657700 40657700 C G rs7308720 LRRK2 Nonsynonymous SNV N551K 0.058 0.063 0.037 24 68 24 0.062 11 3 0 0 1 Benign 27.3 60392 chr11 72415107 72415107 G A rs117520345 ARAP1-AS2 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 2.117 60393 chr12 40702911 40702911 G A rs7133914 LRRK2 Nonsynonymous SNV R1398H 0.057 0.063 0.037 24 67 24 0.062 11 3 0 0 1 Likely benign 23.1 60394 chr11 72554239 72554239 C T rs142624444 FCHSD2 Synonymous SNV T554T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.47 60395 chr12 40702987 40702987 G A rs11175964 LRRK2 Synonymous SNV K1423K 0.055 0.063 0.034 24 65 24 0.062 10 3 0 0 1 Benign/Likely benign 10.24 60396 chr2 122286263 122286263 G A rs199865832 CLASP1 Nonsynonymous SNV A123V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 60397 chr11 73019814 73019814 G A rs774469941 ARHGEF17 Nonsynonymous SNV C44Y 0.007 0.016 0.007 1 8 6 0.003 2 1 0 0 0 22.9 60398 chr2 128767869 128767869 C T rs141032229 SAP130 Synonymous SNV A307A 0.02 0.018 0.003 5 23 7 0.013 1 0 0 0 0 18.29 60399 chr11 73588068 73588068 T G PAAF1 Star tloss M1? 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.7 60400 chr22 20100158 20100158 G C rs447017 TRMT2A Nonsynonymous SNV S620R 0.016 0.023 0.02 14 19 9 0.036 6 0 0 0 2 0.002 60401 chr2 131674329 131674329 C T ARHGEF4 Nonsynonymous SNV S937F 0.005 0 0 2 6 0 0.005 0 0 0 0 0 11.82 60402 chr22 20229339 20229339 G A rs372029905 RTN4R Synonymous SNV G439G 0.003 0.003 0 5 3 1 0.013 0 0 0 0 1 6.113 60403 chr11 74207969 74207969 C T rs565775420 LOC100287896 Nonsynonymous SNV R7C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.339 60404 chr22 39773692 39773692 G A rs146506026 SYNGR1 Synonymous SNV P191P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.64 60405 chr12 42863262 42863262 A G rs34837068 PRICKLE1 Nonsynonymous SNV V125A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 15.96 60406 chr22 40058393 40058393 A T rs58021347 CACNA1I Nonsynonymous SNV M1074L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Likely benign 15.44 60407 chr2 133540714 133540714 G A rs72847214 NCKAP5 Nonsynonymous SNV P1224S 0.031 0.023 0.003 9 36 9 0.023 1 0 0 0 0 Benign 4.224 60408 chr12 43862432 43862432 A C rs759293015 ADAMTS20 Synonymous SNV A398A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.005 60409 chr11 74459985 74459985 - CGGCGGGGC rs764200799 RNF169 R27_C28insRGR 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 60410 chr9 89625073 89625073 A T rs77351971 LOC440173 0 0 0.024 0 0 0 0 7 0 0 0 0 5.398 60411 chr22 21096608 21096608 C G PI4KA Nonsynonymous SNV G1186R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.6 60412 chr9 90317982 90317982 C T rs943587975 DAPK1 Synonymous SNV I970I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 60413 chr12 47471393 47471393 T G rs34333961 AMIGO2 Synonymous SNV R465R 0.007 0.01 0.017 13 8 4 0.033 5 0 0 0 0 0.264 60414 chr11 75140969 75140969 G A KLHL35 Stop gain R236X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 36 60415 chr12 53240018 53240018 C T rs61753522 KRT78 Nonsynonymous SNV R130K 0.008 0.013 0.003 1 9 5 0.003 1 0 0 0 0 2.261 60416 chr12 48191247 48191247 C T rs148755202 HDAC7 Nonsynonymous SNV R149H 0.005 0.008 0.01 5 6 3 0.013 3 0 0 0 0 25.8 60417 chr9 95477585 95477585 G A rs778940849 BICD2 Nonsynonymous SNV R807W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 35 60418 chr9 95599839 95599839 G A rs61743154 ANKRD19P 0 0 0.031 0 0 0 0 9 0 0 0 0 1.472 60419 chr22 21800277 21800277 G A rs149799345 HIC2 Nonsynonymous SNV E365K 0.006 0.005 0.007 5 7 2 0.013 2 0 0 0 0 12.81 60420 chr11 75442301 75442301 C A rs139594944 MOGAT2 Synonymous SNV I325I 0.014 0.013 0.014 3 16 5 0.008 4 1 0 0 0 16.14 60421 chr2 133542991 133542991 G A rs61746268 NCKAP5 Nonsynonymous SNV H465Y 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 19.24 60422 chr2 135095867 135095867 T C MGAT5 Nonsynonymous SNV M228T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.75 60423 chr2 135470804 135470804 G A rs13399359 TMEM163 Synonymous SNV I96I 0.011 0.016 0.031 7 13 6 0.018 9 0 0 0 0 11.06 60424 chr22 22843435 22843435 C G ZNF280B Nonsynonymous SNV E97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 60425 chr2 135743508 135743508 T C rs56319025 MAP3K19 Synonymous SNV L865L 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 2.338 60426 chr2 138727744 138727744 C T rs756228964 HNMT Synonymous SNV D49D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.613 60427 chr2 141055451 141055451 G C rs139037100 LRP1B Nonsynonymous SNV T4298S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 12.86 60428 chr11 76883816 76883816 C T rs782598897 MYO7A Nonsynonymous SNV S607L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.6 60429 chr11 76890901 76890901 C T rs797044493 MYO7A Nonsynonymous SNV R830C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 35 60430 chr21 33044408 33044408 A G rs73201506 SCAF4 Synonymous SNV V901V 0.053 0.039 0.037 18 62 15 0.046 11 2 0 0 1 0.879 60431 chr2 128775453 128775453 G A rs200545000 SAP130 Nonsynonymous SNV A76V 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 21.9 60432 chr9 98244242 98244242 T C rs1805154 PTCH1 Synonymous SNV T245T 0.025 0.042 0.041 13 29 16 0.033 12 0 0 0 1 Benign 0.017 60433 chr21 33355876 33355876 G A rs201538233 HUNK Nonsynonymous SNV R404Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 15.66 60434 chr2 138329991 138329991 G A rs556330194 THSD7B Synonymous SNV A1096A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.318 60435 chr9 99012176 99012176 C T rs529937876 HSD17B3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.667 60436 chr12 45410288 45410288 C T rs117073125 DBX2 Synonymous SNV R267R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 14.24 60437 chrUn_gl000220 118418 118421 CGCG - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.211 0 0 0 0 62 0 0 0 0 60438 chrUn_gl000220 118436 118436 C T RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.446 0 0 0 0 131 0 0 51 0 60439 chr12 45444431 45444431 G C rs200382293 DBX2 Nonsynonymous SNV P94A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.454 60440 chr21 34053882 34053882 C T SYNJ1 Nonsynonymous SNV R426Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 60441 chr12 49427919 49427919 T C rs61942218 KMT2D Synonymous SNV P3557P 0.056 0.031 0.034 17 66 12 0.044 10 2 1 0 0 Benign/Likely benign 2.745 60442 chr12 50471064 50471064 C G rs749854315 ASIC1 Synonymous SNV T243T 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 11.92 60443 chr12 48187329 48187329 G A rs77196719 HDAC7 Nonsynonymous SNV R464W 0.016 0.01 0.003 5 19 4 0.013 1 0 0 0 0 23.7 60444 chr22 24226520 24226520 G C rs36026871 SLC2A11 Synonymous SNV L396L 0.014 0.01 0.007 8 16 4 0.021 2 1 0 0 0 11.69 60445 chr2 149227856 149227856 G T MBD5 Nonsynonymous SNV G782C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 60446 chrX 111195591 111195591 G A rs148777982 TRPC5 Synonymous SNV L20L 0.003 0.003 0.017 2 3 1 0.005 5 1 0 2 1 2.685 60447 chr2 152468776 152468776 T C rs35740585 NEB Nonsynonymous SNV D3667G 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 Benign/Likely benign 17.71 60448 chr22 45750920 45750920 A G rs61748560 SMC1B Synonymous SNV L1013L 0.016 0.021 0.017 6 19 8 0.015 5 0 0 0 0 0.299 60449 chr21 37444218 37444218 T G rs61759823 CBR1 Stop gain L168X 0.015 0.01 0.014 5 18 4 0.013 4 0 0 0 0 3.285 60450 chr12 50748127 50748127 C T rs201058635 FAM186A Nonsynonymous SNV G830S 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 5.295 60451 chr22 25158398 25158398 T C rs146213051 PIWIL3 Synonymous SNV A23A 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 0.15 60452 chr12 56090761 56090761 G C rs144052152 ITGA7 Synonymous SNV P105P 0.014 0.016 0 5 17 6 0.013 0 0 0 0 0 Benign/Likely benign 5.589 60453 chrX 12739294 12739294 A G rs3827468 FRMPD4 Nonsynonymous SNV M1538V 0 0 0.248 0 0 0 0 73 0 0 24 0 0.035 60454 chrX 12939900 12939900 T A rs774857349 TLR8 Nonsynonymous SNV L914H 0 0 0.007 0 0 0 0 2 0 0 1 0 21.5 60455 chr12 51736468 51736468 C T rs145791288 CELA1 Nonsynonymous SNV V73M 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 25.5 60456 chr22 26743875 26743875 G A rs141923405 SEZ6L Synonymous SNV E801E 0.003 0.005 0 3 4 2 0.008 0 0 1 0 0 10.26 60457 chr12 49333799 49333799 G A rs2228417 ARF3 Synonymous SNV H80H 0.077 0.07 0.122 30 90 27 0.077 36 2 0 3 2 6.89 60458 chr11 92258106 92258106 T G FAT3 Nonsynonymous SNV I1200S 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 20.4 60459 chr12 56630764 56630764 G A rs17118409 SLC39A5 Synonymous SNV A419A 0.02 0.031 0.027 13 23 12 0.033 8 0 0 0 0 14.72 60460 chr12 56636975 56636975 C G rs59626664 ANKRD52 Nonsynonymous SNV S1061T 0.018 0.029 0.027 13 21 11 0.033 8 0 0 0 0 0.045 60461 chr12 49430947 49430947 T C rs75937132 KMT2D Nonsynonymous SNV M3398V 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign/Likely benign 4.385 60462 chr12 56679751 56679751 A G rs1802236 CS Synonymous SNV T50T 0.018 0.031 0.024 13 21 12 0.033 7 0 0 0 0 5.363 60463 chrX 131212809 131212809 G A FRMD7 Synonymous SNV S397S 0 0 0.007 0 0 0 0 2 0 0 1 0 3.909 60464 chr12 56718422 56718422 T C rs11171803 PAN2 Synonymous SNV A557A 0.018 0.031 0.031 13 21 12 0.033 9 0 0 0 0 11.65 60465 chr2 15534391 15534391 G A rs147322367 NBAS Nonsynonymous SNV R1073C 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 Benign/Likely benign 31 60466 chr12 52284620 52284620 C T rs117498175 ANKRD33 Nonsynonymous SNV P103L 0.016 0.013 0.014 9 19 5 0.023 4 0 0 0 0 9.607 60467 chr12 52408873 52408873 C T rs139529598 GRASP Synonymous SNV L217L 0.037 0.031 0.048 21 44 12 0.054 14 1 0 0 0 9.234 60468 chr12 56733531 56733531 G A rs11171806 IL23A Synonymous SNV S106S 0.018 0.031 0.031 13 21 12 0.033 9 0 0 0 0 Benign 12.17 60469 chr12 49500466 49500466 C T LMBR1L Nonsynonymous SNV V2I 0.003 0 0 0 3 0 0 0 0 0 0 0 4.808 60470 chr12 56740682 56740682 C G rs2066807 STAT2 Nonsynonymous SNV M594I 0.018 0.031 0.031 13 21 12 0.033 9 0 0 0 0 Benign 1.492 60471 chr22 28378688 28378688 C G rs9613558 TTC28 Nonsynonymous SNV A2323P 0.024 0.016 0.027 13 28 6 0.033 8 0 1 0 0 28.4 60472 chr2 144728257 144728257 G A rs370764973 GTDC1 Synonymous SNV H316H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 8.085 60473 chr22 29130458 29130458 T C rs1805129 CHEK2 Synonymous SNV E84E 0.032 0.036 0.058 9 38 14 0.023 17 0 0 1 0 Benign/Likely benign 2.59 60474 chr21 42694878 42694878 C T rs61734881 FAM3B Synonymous SNV F16F 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Benign 9.128 60475 chr21 42778676 42778676 G A rs61730267 MX2 Synonymous SNV T552T 0.009 0.008 0.014 6 11 3 0.015 4 0 0 0 0 10.45 60476 chr2 160035215 160035215 C T rs200216556 TANC1 Nonsynonymous SNV A483V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 60477 chrX 149680843 149680843 C A rs782701412 MAMLD1 Nonsynonymous SNV Q833K 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.018 60478 chr2 160182374 160182374 T C rs148382881 BAZ2B Nonsynonymous SNV N1964S 0.03 0.021 0.027 8 35 8 0.021 8 0 0 0 0 8.286 60479 chr2 160714957 160714957 G A LY75, LY75-CD302 Nonsynonymous SNV H767Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.628 60480 chrX 152989470 152989470 C A rs184707396 BCAP31 0 0 0.122 0 0 0 0 36 0 0 12 0 7.934 60481 chr11 101454192 101454192 G A rs3802829 TRPC6 Nonsynonymous SNV P15S 0.075 0.078 0.116 26 88 30 0.067 34 5 1 2 0 Benign 16.15 60482 chr2 163124596 163124596 C T rs35732034 IFIH1 0.014 0.008 0.007 1 17 3 0.003 2 1 0 0 0 Benign 26.8 60483 chr22 50518815 50518815 C T rs11568172 MLC1 Synonymous SNV S93S 0.008 0.01 0.024 6 9 4 0.015 7 0 0 0 0 Conflicting interpretations of pathogenicity 17.04 60484 chr2 163133953 163133953 T - rs773033563 IFIH1 D673Ifs*5 0.001 0 0 1 1 0 0.003 0 0 0 0 0 60485 chrX 153132849 153132849 G A rs781918761 L1CAM Nonsynonymous SNV P695L 0 0 0.007 0 0 0 0 2 0 0 1 0 21.6 60486 chr2 166606326 166606326 C T rs146521644 GALNT3 Nonsynonymous SNV V569I 0.007 0.01 0.01 1 8 4 0.003 3 0 0 0 0 Benign 15.48 60487 chr12 52710276 52710276 G A rs143467763 KRT83 Synonymous SNV A339A 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Likely benign 13.75 60488 chrX 153420176 153420176 A G rs1065426 OPN1LW Nonsynonymous SNV M236V 0.051 0.049 0.075 19 60 19 0.049 22 16 6 8 7 0.002 60489 chr22 31655196 31655196 G A rs55638065 LIMK2 Synonymous SNV V93V 0.025 0.021 0.02 13 29 8 0.033 6 0 0 0 1 9.369 60490 chr22 31658205 31658205 C T rs34930775 LIMK2 Nonsynonymous SNV R192C 0.028 0.023 0.027 16 33 9 0.041 8 0 0 0 1 32 60491 chrX 153421912 153421912 T C rs1065439 OPN1LW Synonymous SNV G296G 0.051 0.049 0.071 17 60 19 0.044 21 16 6 8 6 0.738 60492 chr22 31942898 31942898 G A rs146504169 SFI1 Synonymous SNV E48E 0.023 0.021 0.024 13 27 8 0.033 7 0 0 0 0 10.48 60493 chr22 31971305 31971305 C T rs144068624 SFI1 Synonymous SNV Y255Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.491 60494 chr22 31976299 31976299 T C rs55894054 SFI1 Synonymous SNV A317A 0.089 0.068 0.065 34 104 26 0.087 19 5 0 0 4 0.113 60495 chrX 16852429 16852429 G A rs182238854 TXLNG Synonymous SNV S204S 0 0 0.007 0 0 0 0 2 0 0 1 0 13.39 60496 chr2 167262592 167262592 C T rs34799257 SCN7A Nonsynonymous SNV R1516K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 22.7 60497 chr22 31979911 31979911 G T rs140987552 SFI1 Nonsynonymous SNV K378N 0.023 0.021 0.024 13 27 8 0.033 7 0 0 0 0 23.2 60498 chr12 53227927 53227927 G A rs762650014 KRT79 Nonsynonymous SNV R40W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.4 60499 chr2 167327177 167327177 C T rs200792579 SCN7A Synonymous SNV T204T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.71 60500 chr2 167060894 167060894 T A SCN9A Synonymous SNV P1493P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.823 60501 chr22 31998739 31998739 C T rs61742595 SFI1 Synonymous SNV L536L 0.023 0.021 0.02 13 27 8 0.033 6 0 0 0 0 11.8 60502 chr21 43959676 43959676 C T rs116869533 SLC37A1 Synonymous SNV L135L 0.014 0.005 0.02 6 17 2 0.015 6 0 0 0 0 Benign 14.02 60503 chr2 168099316 168099316 T C rs143400009 XIRP2 Nonsynonymous SNV S250P 0.007 0.005 0.017 3 8 2 0.008 5 0 0 0 0 Benign 27.3 60504 chrX 19364644 19364644 C T rs7883320 PDHA1 Nonsynonymous SNV T25M 0.062 0.086 0.071 31 73 33 0.079 21 16 13 6 9 0.577 60505 chr22 32111553 32111553 G A rs140450525 PRR14L Synonymous SNV L758L 0.026 0.021 0.034 12 31 8 0.031 10 0 0 0 0 0.312 60506 chr11 102816476 102816476 T C rs190896822 MMP13 Nonsynonymous SNV Y405C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.7 60507 chr22 32200161 32200161 T C rs79070552 DEPDC5 Synonymous SNV D337D 0.029 0.029 0.031 13 34 11 0.033 9 0 0 0 1 Benign 1.721 60508 chr22 32218727 32218727 C A rs61731667 DEPDC5 Nonsynonymous SNV F657L 0.027 0.021 0.031 12 32 8 0.031 9 0 0 0 0 Benign 18.06 60509 chr22 32234797 32234797 G A rs61731664 DEPDC5 Synonymous SNV P749P 0.027 0.021 0.031 12 32 8 0.031 9 0 0 0 0 Benign 5.749 60510 chr22 32266603 32266603 A G rs61731662 DEPDC5 Nonsynonymous SNV M1020V 0.031 0.023 0.041 13 36 9 0.033 12 0 0 0 0 Benign 0.001 60511 chr2 168105695 168105695 T G rs16853326 XIRP2 Nonsynonymous SNV L2376R 0.037 0.039 0.037 14 44 15 0.036 11 0 1 0 0 4.36 60512 chr22 32302045 32302045 C T rs146449468 DEPDC5 Synonymous SNV H1404H 0.027 0.021 0.031 12 32 8 0.031 9 0 0 0 0 Benign 16.3 60513 chr11 103153788 103153788 C A rs117178504 DYNC2H1 Synonymous SNV R3622R 0.015 0.013 0.007 7 18 5 0.018 2 2 0 0 0 Benign/Likely benign 22.4 60514 chr2 168108032 168108032 G A rs16853333 XIRP2 Nonsynonymous SNV G3155E 0.037 0.039 0.037 13 44 15 0.033 11 0 1 0 0 23.2 60515 chr22 50961786 50961786 C T rs41282347 NCAPH2 Synonymous SNV P601P 0.034 0.036 0.034 10 40 14 0.026 10 0 0 0 0 13.4 60516 chr2 169313084 169313084 T C rs371457284 CERS6 Synonymous SNV F42F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.802 60517 chr2 160709785 160709785 G A rs34442850 LY75, LY75-CD302 Synonymous SNV I914I 0.01 0.01 0.003 4 12 4 0.01 1 0 0 0 0 8.841 60518 chr2 169404124 169404124 C T rs112644047 CERS6 Synonymous SNV C63C 0.008 0.005 0 0 9 2 0 0 0 0 0 0 15.8 60519 chr12 53451849 53451849 G C rs11170389 TNS2 Nonsynonymous SNV S363T 0.032 0.026 0.024 11 38 10 0.028 7 0 0 0 0 6.989 60520 chr22 50970068 50970068 C T rs141953471 ODF3B Nonsynonymous SNV D82N 0.028 0.023 0.024 10 33 9 0.026 7 0 0 0 0 23.6 60521 chr11 107219690 107219692 CAA - rs368279169 CWF19L2 L725del 0.007 0.005 0.014 0 8 2 0 4 0 0 0 0 60522 chr11 107286943 107286943 C T rs17106909 CWF19L2 Nonsynonymous SNV G537R 0.023 0.023 0.01 12 27 9 0.031 3 0 0 0 0 19.91 60523 chr12 53680530 53680530 G T rs140972771 ESPL1 Nonsynonymous SNV G1337V 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 9.761 60524 chr2 162762381 162762381 C T rs61732696 SLC4A10 Synonymous SNV L582L 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 12.6 60525 chr21 45789221 45789221 C - TRPM2 T257Rfs*18 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 60526 chr2 170387132 170387132 - T rs566862006 FASTKD1 Frameshift insertion R737Tfs*17 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 60527 chr22 51018204 51018204 T C rs141381896 CHKB Nonsynonymous SNV Q328R 0.029 0.016 0.01 9 34 6 0.023 3 0 0 1 0 Conflicting interpretations of pathogenicity 0.534 60528 chrX 39932907 39932907 T C rs6520618 BCOR Synonymous SNV A564A 0.154 0.18 0.136 71 181 69 0.182 40 44 20 13 23 Benign 0.002 60529 chr12 53681963 53681963 G A rs61752572 ESPL1 Nonsynonymous SNV A1462T 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 10.31 60530 chrX 47342920 47342920 - A LINC01560 0 0 0.177 0 0 0 0 52 0 0 22 0 60531 chr2 170684548 170684548 G A rs79036304 UBR3 Synonymous SNV V177V 0.027 0.029 0.027 5 32 11 0.013 8 0 0 0 0 11.5 60532 chrX 47918682 47918682 G A rs145045975 ZNF630 Synonymous SNV A383A 0.004 0.003 0.01 4 5 1 0.01 3 1 0 1 1 2.611 60533 chr22 36537770 36537770 C T rs146525352 APOL3 Synonymous SNV A229A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.71 60534 chr2 166771749 166771749 C T rs368202285 TTC21B Synonymous SNV K700K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.21 60535 chr12 73056956 73056956 G A rs147640323 TRHDE Nonsynonymous SNV G1019E 0.005 0.005 0.014 0 6 2 0 4 0 0 0 0 20.8 60536 chr12 53823307 53823307 G A rs784890 AMHR2 Synonymous SNV S346S 0.004 0.005 0.017 5 5 2 0.013 5 0 0 0 0 10.7 60537 chrX 49454026 49454026 T C rs151117508 PAGE1 Nonsynonymous SNV E138G 0.017 0.026 0.027 5 20 10 0.013 8 3 4 3 1 Benign 22 60538 chr2 172188320 172188320 G A rs115186437 METTL8 Synonymous SNV L193L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 10.01 60539 chrX 64772100 64772100 C T rs562290235 FRMD8P1 0 0 0.014 0 0 0 0 4 0 0 2 0 1.31 60540 chr2 167301500 167301500 T C rs201383035 SCN7A Synonymous SNV K466K 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Likely benign 5.917 60541 chr2 176805795 176805795 A C rs2360059 LNPK Synonymous SNV P240P 0.025 0.029 0.007 11 29 11 0.028 2 1 2 1 0 0.814 60542 chr2 1687460 1687460 C T rs545134354 PXDN Synonymous SNV G176G 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 11.92 60543 chr12 53680011 53680011 T G rs111320105 ESPL1 Nonsynonymous SNV V1164G 0.014 0.013 0.01 5 16 5 0.013 3 0 0 0 1 15.51 60544 chr2 176983923 176983923 G C rs33913965 HOXD10 Synonymous SNV R329R 0.033 0.016 0.031 12 39 6 0.031 9 0 0 0 0 Benign/Likely benign 4.863 60545 chr2 177202294 177202294 C G MTX2 Nonsynonymous SNV L209V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 60546 chr2 170009391 170009391 G T rs148356370 LRP2 Nonsynonymous SNV R4127S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 5.278 60547 chrX 84189813 84189813 A G rs6623210 UBE2DNL 0 0 0.231 0 0 0 0 68 0 0 26 0 2.387 60548 chr2 170048492 170048492 G A rs780122177 LRP2 Nonsynonymous SNV P2961L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 60549 chr2 179253796 179253796 G C rs116608280 OSBPL6 Synonymous SNV G708G 0.009 0.013 0.01 5 11 5 0.013 3 0 0 0 0 5.513 60550 chr12 55715248 55715248 A C rs141094641 OR6C1 Nonsynonymous SNV S289R 0.028 0.023 0.02 10 33 9 0.026 6 0 0 0 0 24 60551 chr2 170063685 170063685 C T rs199813044 LRP2 Nonsynonymous SNV R2182H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.6 60552 chr2 179393859 179393859 A G rs55880440 TTN Nonsynonymous SNV I26475T 0.027 0.016 0.01 8 32 6 0.021 3 0 0 0 0 Benign/Likely benign 16.28 60553 chr2 170089934 170089934 C T rs145384264 LRP2 Synonymous SNV S1695S 0.01 0.008 0.014 3 12 3 0.008 4 0 0 0 0 Benign/Likely benign 14.25 60554 chr12 54379355 54379369 TGTCAAGGAGGAGAA - HOXC10 K106_V110del 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 60555 chr2 179396782 179396782 C G rs55866005 TTN Nonsynonymous SNV V25789L 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 19.49 60556 chr12 54423563 54423563 C T rs151083984 HOXC6 Synonymous SNV A175A 0.015 0.018 0.014 2 18 7 0.005 4 1 0 0 0 9.871 60557 chr11 116692324 116692324 G A rs2234668 APOA4 Synonymous SNV A150A 0.044 0.036 0.054 11 52 14 0.028 16 2 0 0 0 3.281 60558 chr2 179486037 179486037 C A rs72677225 TTN Nonsynonymous SNV K6071N 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 60559 chr21 47684061 47684061 G A rs142784252 MCM3AP Nonsynonymous SNV A1102V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.6 60560 chr2 170354138 170354138 G A rs35487251 BBS5 Nonsynonymous SNV R207H 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 Benign 27.3 60561 chr2 170367151 170367151 T G rs139415849 KLHL41 Nonsynonymous SNV L288R 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 Benign 26.5 60562 chr22 38221156 38221156 C T rs761040811 GALR3 Synonymous SNV R262R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.71 60563 chr22 38251629 38251629 C G rs11551384 EIF3L Synonymous SNV A117A 0.042 0.034 0.034 19 49 13 0.049 10 1 1 0 2 14.3 60564 chr22 38328597 38328597 A G rs34834842 MICALL1 Nonsynonymous SNV H685R 0.013 0.008 0.003 6 15 3 0.015 1 0 0 0 0 24.1 60565 chr12 56233313 56233313 G A rs1056784 MMP19 Nonsynonymous SNV P245S 0.015 0.005 0.014 7 18 2 0.018 4 0 0 0 0 Benign 0.024 60566 chr21 47783655 47783655 C G rs61407822 PCNT Synonymous SNV A687A 0.02 0.018 0.037 3 23 7 0.008 11 0 0 1 0 Benign 13.53 60567 chr22 38379774 38379774 G A rs149435516 SOX10 Synonymous SNV D6D 0.035 0.026 0.024 16 41 10 0.041 7 1 1 0 2 Benign 6.271 60568 chr2 179623772 179623772 G A rs45447891 TTN Synonymous SNV Y3368Y 0.006 0.01 0.014 2 7 4 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 60569 chr22 38617522 38617522 C T rs201164895 TMEM184B Nonsynonymous SNV R393H 0.01 0 0 3 12 0 0.008 0 0 0 0 0 23.5 60570 chr22 38690132 38690132 G A rs778170734 CSNK1E, TPTEP2-CSNK1E Nonsynonymous SNV R401W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 60571 chr21 47831522 47831522 G A rs61735543 PCNT Synonymous SNV R1727R 0.016 0.016 0.027 2 19 6 0.005 8 0 0 0 0 Benign/Likely benign 9.555 60572 chr2 179640298 179640298 C T rs565791174 TTN Nonsynonymous SNV R2052Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23 60573 chr2 179575625 179575625 T C TTN Nonsynonymous SNV D8156G 0.003 0 0 0 4 0 0 0 0 0 0 0 12.01 60574 chr12 56350977 56350977 C G rs17118154 PMEL Nonsynonymous SNV E284D 0.013 0.01 0.01 0 15 4 0 3 0 0 0 0 Benign 4.614 60575 chr22 39477566 39477566 A G rs8177832 APOBEC3G Nonsynonymous SNV H119R 0.048 0.047 0.034 24 56 18 0.062 10 1 0 0 3 0.001 60576 chr12 56486795 56486795 G A rs760334728 ERBB3 Synonymous SNV P403P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 13.3 60577 chr2 173355800 173355800 G A rs61737182 ITGA6 Nonsynonymous SNV D910N 0.013 0.005 0.007 4 15 2 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.91 60578 chr21 47836426 47836426 T C rs57108405 PCNT Synonymous SNV G2080G 0.02 0.018 0.037 3 23 7 0.008 11 0 0 1 0 Benign 0.039 60579 chr21 47836571 47836571 C T rs61735812 PCNT Nonsynonymous SNV H2129Y 0.015 0.013 0.02 2 18 5 0.005 6 0 0 0 0 Benign/Likely benign 0.002 60580 chr12 99071283 99071283 A C rs73142307 APAF1 Nonsynonymous SNV E614A 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 Benign 11.21 60581 chr22 39884357 39884357 C G rs142504494 MGAT3 Synonymous SNV G335G 0.012 0.003 0 2 14 1 0.005 0 0 0 0 0 Benign 8.521 60582 chr2 175614716 175614716 G A rs2229957 CHRNA1 Synonymous SNV H320H 0.085 0.102 0.082 22 100 39 0.056 24 8 1 0 0 Benign/Likely benign 9.752 60583 chr10 105127782 105127782 G A TAF5 Synonymous SNV A12A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 60584 chr2 183051221 183051221 G A rs748224570 PDE1A Synonymous SNV A416A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.76 60585 chr11 119182623 119182623 A G rs115730438 MCAM Synonymous SNV L394L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.1 60586 chr11 119210419 119210419 C T rs779390261 C1QTNF5 Synonymous SNV P118P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 16.47 60587 chr2 113514171 113514171 C T rs765291620 CKAP2L Synonymous SNV Q94Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 9.215 60588 chr22 18028507 18028507 G A rs200418423 CECR2 Nonsynonymous SNV R1013H 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 28.9 60589 chr2 179412966 179412966 G A rs35445420 TTN Synonymous SNV S22064S 0.032 0.052 0.014 5 37 20 0.013 4 1 1 0 0 Benign/Likely benign 12.69 60590 chr12 58138971 58138971 G A rs147996581 TSPAN31 Nonsynonymous SNV A12T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26 60591 chr12 57860046 57860046 C T rs7973381 GLI1 Synonymous SNV H134H 0.035 0.039 0.048 10 41 15 0.026 14 1 0 0 0 10.26 60592 chr12 58217708 58217708 G A rs12822897 CTDSP2 Synonymous SNV Y223Y 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 1.423 60593 chr10 105978601 105978601 T C rs201403671 MIR609 0 0 0.007 0 0 0 0 2 0 0 0 0 0.095 60594 chr12 57868243 57868243 G A rs34133632 ARHGAP9 Synonymous SNV S271S 0.033 0.036 0.044 9 39 14 0.023 13 1 0 0 0 14.12 60595 chr2 179441038 179441038 C T rs201043950 TTN Nonsynonymous SNV G14209D 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.61 60596 chr10 106074895 106074895 C T rs141252425 ITPRIP Synonymous SNV Q305Q 0 0 0.007 0 0 0 0 2 0 0 0 0 8.086 60597 chr10 106118217 106118217 A G rs368634585 CFAP58 Nonsynonymous SNV Y43C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 60598 chr22 19195771 19195771 G A rs190351859 CLTCL1 Nonsynonymous SNV R1165C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 33 60599 chr22 19221123 19221123 G A rs200317892 CLTCL1 Nonsynonymous SNV T397M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 60600 chr2 186659026 186659026 T C FSIP2 Nonsynonymous SNV I2388T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.46 60601 chr12 105282893 105282893 T C rs17036463 SLC41A2 Synonymous SNV P266P 0.029 0.018 0.034 8 34 7 0.021 10 0 0 0 0 4.698 60602 chr10 113926224 113926224 A G rs35019520 GPAM Nonsynonymous SNV I386T 0.016 0.021 0.027 2 19 8 0.005 8 0 0 0 0 23.3 60603 chr12 66260716 66260716 G A rs73119894 HMGA2-AS1 0.047 0.042 0.051 19 55 16 0.049 15 0 0 0 0 0.541 60604 chr12 106633585 106633585 G A rs138167410 CKAP4 Synonymous SNV A342A 0.028 0.034 0.044 4 33 13 0.01 13 0 0 1 0 11.22 60605 chr22 44280184 44280184 G C rs148896213 PNPLA5 Nonsynonymous SNV R217G 0.01 0.013 0.01 5 12 5 0.013 3 0 1 0 0 10.86 60606 chr12 107713764 107713764 G A BTBD11 Synonymous SNV E349E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.457 60607 chr22 20100652 20100652 C T rs773237048 TRMT2A Nonsynonymous SNV R513H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 60608 chr10 115971677 115971677 T C TDRD1 Synonymous SNV S571S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.967 60609 chr2 179634961 179634961 C A rs33917087 TTN Nonsynonymous SNV V2777F 0.038 0.049 0.007 6 45 19 0.015 2 0 1 0 0 Benign/Likely benign 21.9 60610 chr12 70037520 70037520 G A rs61747221 BEST3 Nonsynonymous SNV P383L 0.043 0.047 0.048 21 50 18 0.054 14 0 1 0 0 12.41 60611 chr10 118363612 118363612 T C rs116610181 PNLIPRP1 Synonymous SNV F378F 0.012 0.005 0.017 3 14 2 0.008 5 0 0 0 1 3.294 60612 chr10 119043458 119043458 T G rs140922572 PDZD8 Nonsynonymous SNV N929T 0.005 0.01 0.01 3 6 4 0.008 3 0 0 0 0 0.11 60613 chr12 75717011 75717011 C A rs11835996 CAPS2 Nonsynonymous SNV M12I 0.021 0.023 0.034 15 25 9 0.038 10 0 0 1 1 11.43 60614 chr10 11997372 11997372 A G rs145418095 UPF2 Synonymous SNV P903P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.088 60615 chr12 75902186 75902186 T C rs3782225 KRR1 Synonymous SNV E42E 0.02 0.023 0.027 17 24 9 0.044 8 0 0 1 1 4.189 60616 chr12 111729274 111729274 C T rs367783595 CUX2 Synonymous SNV P56P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.56 60617 chr2 197854356 197854356 G A rs775193645 ANKRD44 Nonsynonymous SNV P981S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 60618 chr12 112036776 112036776 - TGT rs769170503 ATXN2 Q28_P29insQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 60619 chr12 112036782 112036782 T C rs76696028 ATXN2 Synonymous SNV Q19Q 0.009 0.01 0 3 11 4 0.008 0 0 0 0 0 Likely benign 0.002 60620 chr12 77191258 77191258 T C rs17813691 ZDHHC17 Synonymous SNV P36P 0.042 0.034 0.037 9 49 13 0.023 11 0 0 1 0 1.425 60621 chr22 46327188 46327188 G A rs146315543 WNT7B Synonymous SNV T120T 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 4.355 60622 chr12 77458409 77458409 C A rs61744271 E2F7 Nonsynonymous SNV V3L 0.014 0.005 0 3 16 2 0.008 0 0 0 0 0 23.9 60623 chr11 128680466 128680466 C G rs61733405 FLI1 Synonymous SNV P121P 0.027 0.026 0.027 12 32 10 0.031 8 1 0 0 0 10.21 60624 chr12 113405328 113405328 G A rs61732395 OAS3 Nonsynonymous SNV R932Q 0.016 0.01 0.007 6 19 4 0.015 2 0 0 0 0 24.3 60625 chr2 185803480 185803480 A G rs138277674 ZNF804A Synonymous SNV A1119A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign 2.743 60626 chr22 46658883 46658888 CGAGCG - rs59275213 PKDREJ A111_L112del 0.026 0.01 0 5 30 4 0.013 0 4 0 0 0 60627 chr2 20240668 20240668 C A rs3731673 LAPTM4A Synonymous SNV S72S 0.101 0.12 0.102 35 118 46 0.09 30 10 1 1 1 22.2 60628 chr22 26165204 26165204 C T rs762886452 MYO18B Nonsynonymous SNV R441C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.01 60629 chr10 123996970 123996970 G A rs61753077 TACC2 Nonsynonymous SNV G778R 0.034 0.039 0.02 11 40 15 0.028 6 1 0 0 1 23.3 60630 chr11 129775599 129775599 C T rs3734076 PRDM10 Synonymous SNV Q934Q 0.028 0.034 0.02 2 33 13 0.005 6 1 0 1 0 13.73 60631 chr11 130298117 130298117 - GCA rs55808430 ADAMTS8 L21_P22insL 0.021 0.039 0.014 5 25 15 0.013 4 8 5 1 1 60632 chr2 203072624 203072624 G A rs7609311 SUMO1 Synonymous SNV N113N 0.023 0.023 0.007 8 27 9 0.021 2 0 0 0 1 2.769 60633 chr2 196640685 196640685 G A rs369186716 DNAH7 Nonsynonymous SNV T3696I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.63 60634 chr22 26849364 26849364 G A rs9625029 HPS4 Nonsynonymous SNV L574F 0.005 0.005 0.02 11 6 2 0.028 6 0 0 0 0 Benign 5.927 60635 chr2 203420712 203420712 G A rs2228545 BMPR2 Nonsynonymous SNV S775N 0.032 0.036 0.017 9 38 14 0.023 5 0 0 0 1 Benign 5.428 60636 chr22 26860760 26860760 C T rs143294921 HPS4 Nonsynonymous SNV G274D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.556 60637 chr10 124909256 124909256 G T rs745515890 HMX2 Nonsynonymous SNV A147S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 5.512 60638 chr2 204305333 204305333 C T rs114111739 RAPH1 Synonymous SNV S860S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.49 60639 chr12 266266 266266 T C rs76437618 IQSEC3 Synonymous SNV R440R 0.027 0.036 0.041 8 32 14 0.021 12 0 1 1 0 0.659 60640 chr22 50278810 50278810 T C rs116893184 ZBED4 Synonymous SNV H500H 0.013 0 0.01 3 15 0 0.008 3 0 0 0 0 0.009 60641 chr10 126716115 126716115 G A rs146900874 CTBP2 Nonsynonymous SNV R72W 0.007 0.01 0.007 4 8 4 0.01 2 0 0 0 0 26.9 60642 chr22 50278879 50278879 T C rs61731525 ZBED4 Synonymous SNV S523S 0.013 0 0.01 3 15 0 0.008 3 0 0 0 0 0.643 60643 chr10 127265427 127265427 G A rs77774010 TEX36 Nonsynonymous SNV T94M 0.013 0.005 0.017 4 15 2 0.01 5 1 0 0 0 8.602 60644 chr22 50313452 50313452 C T rs149112831 CRELD2 Nonsynonymous SNV A96V 0.014 0 0.01 4 16 0 0.01 3 0 0 0 0 21.7 60645 chr22 30228309 30228309 T C rs150260524 ASCC2 Synonymous SNV P2P 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 5.588 60646 chr22 50316015 50316015 C T rs111939483 CRELD2 Synonymous SNV H221H 0.011 0 0.01 2 13 0 0.005 3 0 0 0 0 10.65 60647 chr22 50316906 50316906 C T rs145684970 CRELD2 Nonsynonymous SNV P238L 0.014 0 0.01 3 16 0 0.008 3 0 0 0 0 11.56 60648 chr2 207041914 207041914 C G GPR1 Nonsynonymous SNV D20H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.54 60649 chr22 30660417 30660417 C G rs139835173 OSM Nonsynonymous SNV E51Q 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 15.86 60650 chr2 196913082 196913082 A C rs199626467 DNAH7 Nonsynonymous SNV L63W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 60651 chr22 50355183 50355183 G C PIM3 Nonsynonymous SNV E114Q 0.003 0.013 0 8 3 5 0.021 0 0 0 0 0 23.6 60652 chr2 207170026 207170026 T C rs77622365 ZDBF2 Synonymous SNV N258N 0.008 0.005 0.01 2 9 2 0.005 3 1 0 0 0 0.239 60653 chr2 207170242 207170242 T C rs112075178 ZDBF2 Synonymous SNV H330H 0.008 0.005 0.01 2 9 2 0.005 3 1 0 0 0 0.025 60654 chr2 207174559 207174559 A G rs13408088 ZDBF2 Synonymous SNV K1769K 0.008 0.005 0.01 2 9 2 0.005 3 1 0 0 0 0.818 60655 chr12 1702561 1702561 G A rs35524129 FBXL14 Synonymous SNV S224S 0.008 0.016 0.01 0 9 6 0 3 0 0 0 0 3.273 60656 chr22 50487679 50487679 A T TTLL8 Nonsynonymous SNV M124K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 60657 chr2 201284059 201284059 C A rs776901767 SPATS2L Synonymous SNV P35P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.01 60658 chr2 201397724 201397724 G A rs1036533 SGO2 Nonsynonymous SNV G9D 0.049 0.042 0.051 20 58 16 0.051 15 3 0 0 0 7.078 60659 chr22 30887919 30887919 G A rs61741444 SEC14L4 Synonymous SNV C271C 0.049 0.057 0.071 23 58 22 0.059 21 1 1 1 1 4.846 60660 chr12 99640159 99640159 G C rs77436242 ANKS1B Nonsynonymous SNV S747C 0.042 0.042 0.014 18 49 16 0.046 4 0 0 0 0 24.3 60661 chr12 100431425 100431425 T C rs144439125 UHRF1BP1L Nonsynonymous SNV T1462A 0.01 0.01 0.007 0 12 4 0 2 0 0 0 0 1.485 60662 chr12 2721131 2721131 C A rs201258230 CACNA1C Synonymous SNV G1260G 0.014 0.018 0.003 4 17 7 0.01 1 0 1 0 0 Conflicting interpretations of pathogenicity 16.48 60663 chr12 2788615 2788615 C T rs113595214 CACNA1C Synonymous SNV A1707A 0.033 0.029 0.014 10 39 11 0.026 4 2 0 0 1 Benign 16.44 60664 chr12 2968078 2968078 G A rs28919870 FOXM1 Nonsynonymous SNV P658L 0.014 0.021 0.01 1 17 8 0.003 3 0 0 0 0 Likely benign 26.8 60665 chr2 202900133 202900133 C T rs140897513 FZD7 Nonsynonymous SNV L255F 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 13.39 60666 chr12 3120206 3120206 G A rs750064191 TEAD4 Nonsynonymous SNV R88Q 0.009 0.008 0 0 10 3 0 0 0 0 0 0 34 60667 chr12 101760476 101760476 G A rs139993869 UTP20 Nonsynonymous SNV R2089Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 23 60668 chr2 204591408 204591408 G A rs41272649 CD28 Synonymous SNV A35A 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 Benign 3.678 60669 chr12 122801306 122801306 T C CLIP1 Nonsynonymous SNV R1109G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21 60670 chr12 123466146 123466146 A G rs145642193 ARL6IP4 Synonymous SNV R239R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.78 60671 chr2 210742752 210742752 C T rs1040212766 UNC80 Synonymous SNV Y1305Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 60672 chr10 134690358 134690358 G A rs768595628 CFAP46 Synonymous SNV D1440D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 60673 chr22 50894987 50894987 G A rs79468232 SBF1 Synonymous SNV P1315P 0.05 0.065 0.041 16 59 25 0.041 12 2 0 0 0 Benign 2.963 60674 chr10 134942841 134942841 G A rs188455096 ADGRA1 Synonymous SNV E406E 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 0.008 60675 chr22 31867903 31867903 C T rs11544091 EIF4ENIF1 Nonsynonymous SNV E33K 0.012 0.008 0 4 14 3 0.01 0 0 0 0 0 33 60676 chr2 207173388 207173388 A G rs766671988 ZDBF2 Nonsynonymous SNV D1379G 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 8.058 60677 chr2 207564546 207564546 C A rs116493063 DYTN Synonymous SNV L208L 0.003 0.01 0.007 3 4 4 0.008 2 0 0 0 0 17.69 60678 chr2 207827220 207827220 G A rs62617140 CPO Nonsynonymous SNV S220N 0.057 0.052 0.037 21 67 20 0.054 11 2 1 1 0 7.534 60679 chr2 21233999 21233999 T C rs1801699 APOB Nonsynonymous SNV N1914S 0.009 0.008 0.01 7 10 3 0.018 3 0 0 0 0 Benign/Likely benign 11.79 60680 chr22 50989742 50989742 C T rs55829948 SYCE3 Nonsynonymous SNV V67I 0.006 0.016 0.007 5 7 6 0.013 2 0 0 0 0 18.56 60681 chr22 32766985 32766985 C G rs73166382 RFPL3S 0.066 0.055 0.058 28 77 21 0.072 17 2 1 1 1 3.225 60682 chr10 135269788 135269788 G A rs68174897 SCART1 0 0 0.048 0 0 0 0 14 0 0 0 0 6.933 60683 chr12 106477663 106477663 G A rs55690695 NUAK1 Synonymous SNV L186L 0.011 0.01 0.024 6 13 4 0.015 7 0 0 1 0 12.88 60684 chr22 32914312 32914312 C T rs150768274 SYN3 Nonsynonymous SNV R442H 0.014 0.016 0.014 11 16 6 0.028 4 0 0 0 0 Benign 24.4 60685 chr12 107372251 107372251 G C rs35548605 MTERF2 Nonsynonymous SNV A81G 0.013 0.01 0.007 6 15 4 0.015 2 0 0 0 0 Benign 23.6 60686 chr12 106890589 106890589 C T rs148708579 POLR3B Synonymous SNV H901H 0.026 0.029 0.017 4 30 11 0.01 5 0 0 0 0 Benign 13.53 60687 chr2 209179939 209179939 A G rs16840913 PIKFYVE Nonsynonymous SNV M617V 0.043 0.042 0.02 26 50 16 0.067 6 1 0 0 1 Benign 18.16 60688 chr12 107372453 107372453 G C rs34238336 MTERF2 Nonsynonymous SNV L14V 0.013 0.01 0.007 6 15 4 0.015 2 0 0 0 0 Benign 13.08 60689 chr12 6632115 6632115 C T rs772482234 NCAPD2 Synonymous SNV A692A 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 19.98 60690 chr12 6981442 6981442 G A rs146823015 SPSB2 Synonymous SNV G208G 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 12.97 60691 chr12 7045892 7045897 CAGCAG - ATN1 Q501_Q502del 0.015 0.021 0 9 18 8 0.023 0 0 0 0 0 60692 chr2 217279850 217279850 T C rs35907255 SMARCAL1 Synonymous SNV Y141Y 0.017 0.036 0.024 6 20 14 0.015 7 0 0 1 0 Benign 0.003 60693 chr12 7053672 7053672 C T rs139938808 C12orf57 Nonsynonymous SNV A16V 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 60694 chr2 217364013 217364013 C T rs137960636 RPL37A Synonymous SNV V8V 0.045 0.078 0.044 19 53 30 0.049 13 0 1 1 0 20.1 60695 chr2 209215571 209215571 T C rs13020468 PIKFYVE Synonymous SNV I1837I 0.044 0.042 0.02 26 52 16 0.067 6 1 0 0 1 Benign 10.33 60696 chr2 169764546 169764546 C G rs2232328 G6PC2 Nonsynonymous SNV S342C 0.095 0.086 0.133 36 112 33 0.092 39 4 2 1 0 0.078 60697 chr12 109221123 109221123 G A rs117096112 SSH1 Nonsynonymous SNV T20M 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 6.257 60698 chr12 109665242 109665242 G A rs60293430 ACACB Nonsynonymous SNV G1317S 0.06 0.055 0.082 17 71 21 0.044 24 0 2 3 2 26.1 60699 chr10 18816565 18816565 G A rs76956014 CACNB2 Synonymous SNV S276S 0.003 0.008 0.01 2 3 3 0.005 3 0 0 0 0 Benign 14.2 60700 chr10 19355772 19355772 C T rs191919962 MALRD1 Synonymous SNV H108H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 60701 chr12 109725663 109725663 G A rs75148933 FOXN4 Nonsynonymous SNV P152S 0.063 0.049 0.054 16 74 19 0.041 16 1 0 1 0 0.031 60702 chr12 7842587 7842587 C G rs2302516 GDF3 Nonsynonymous SNV V328L 0.012 0.013 0.024 3 14 5 0.008 7 1 0 0 0 Benign 21.8 60703 chr2 219900233 219900233 G A rs201531418 CFAP65 Stop gain R106X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 60704 chr12 132496166 132496166 A G rs144638841 EP400 Nonsynonymous SNV K1143R 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Likely benign 13.49 60705 chr22 37603745 37603745 G A rs4988466 SSTR3 Nonsynonymous SNV A33V 0.041 0.049 0.044 19 48 19 0.049 13 0 0 0 0 0.012 60706 chr2 215645503 215645523 TGGTGAAGAACATTCAGGCAA - rs28997575 BARD1 L340_P346del 0.016 0.013 0.02 12 19 5 0.031 6 0 0 0 1 60707 chr2 220097286 220097286 G A rs200506719 ANKZF1 Nonsynonymous SNV E147K 0.023 0.023 0.01 6 27 9 0.015 3 0 1 0 0 Benign 16.93 60708 chr2 220099713 220099713 C T rs140395841 ANKZF1 Nonsynonymous SNV T247I 0.023 0.023 0.01 6 27 9 0.015 3 0 1 0 0 Benign 11.66 60709 chr2 215839570 215839570 C T rs16853022 ABCA12 Synonymous SNV T1482T 0.036 0.021 0.024 7 42 8 0.018 7 1 0 0 1 Benign 10.17 60710 chr12 111319008 111319008 G T CCDC63 Nonsynonymous SNV R175L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 60711 chr12 112757207 112757207 A T HECTD4 Nonsynonymous SNV L173M 0.013 0.005 0 4 15 2 0.01 0 0 0 0 0 24.2 60712 chr12 8975911 8975911 C T rs185519272 A2ML1 Synonymous SNV L66L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 14.33 60713 chr22 37964794 37964794 G A rs376964841 CDC42EP1 Synonymous SNV A381A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.09 60714 chr2 210683777 210683777 A G rs1048032721 UNC80 Nonsynonymous SNV N585S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.3 60715 chr2 210882585 210882585 C T rs2215825 RPE Synonymous SNV L212L 0.013 0.021 0.061 4 15 8 0.01 18 7 4 8 1 7.19 60716 chr22 38119869 38119869 G A rs75659869 TRIOBP Nonsynonymous SNV D436N 0.024 0.018 0.044 9 28 7 0.023 13 0 0 0 0 Benign 9.513 60717 chr12 133146722 133146722 C T rs569313226 FBRSL1 Nonsynonymous SNV P301L 0.01 0.005 0 7 12 2 0.018 0 0 0 0 1 16.72 60718 chr10 27322257 27322257 T A rs765506121 ANKRD26 Nonsynonymous SNV Q1234L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.5 60719 chr2 173460640 173460640 T C rs12693005 PDK1 Synonymous SNV D418D 0.087 0.096 0.116 19 102 37 0.049 34 6 0 4 1 5.394 60720 chr10 27537769 27537769 T C LRRC37A6P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.649 60721 chr2 218682923 218682923 G T rs140195511 TNS1 Synonymous SNV R1253R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 9.038 60722 chr12 113723754 113723754 C A rs769123051 TPCN1 Nonsynonymous SNV S437Y 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 31 60723 chr10 29698541 29698541 G A rs34503423 SVIL-AS1 0 0 0.095 0 0 0 0 28 0 0 3 0 9.103 60724 chr2 219128095 219128095 G C rs116219220 GPBAR1 Synonymous SNV R216R 0.046 0.039 0.034 18 54 15 0.046 10 2 0 0 1 1.935 60725 chr12 115120945 115120945 G A rs142592809 TBX3 Synonymous SNV L21L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 8.818 60726 chr2 219146724 219146724 G A rs116439217 TMBIM1 Synonymous SNV Y47Y 0.033 0.026 0.024 17 39 10 0.044 7 2 0 0 1 7.023 60727 chr2 17697948 17697948 G A rs769015809 RAD51AP2 Synonymous SNV L579L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.42 60728 chr12 10234008 10234008 A G rs35543384 CLEC1A Synonymous SNV F40F 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 6.818 60729 chr12 116429242 116429242 C T rs201987892 MED13L Nonsynonymous SNV G1173S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Uncertain significance 22.4 60730 chr12 117013756 117013756 G A rs147123589 MAP1LC3B2 Synonymous SNV S3S 0.024 0.036 0.01 19 28 14 0.049 3 0 0 0 0 9.667 60731 chr2 219247721 219247721 G A SLC11A1 Nonsynonymous SNV G16S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.7 60732 chr12 117665330 117665330 C T rs34375182 NOS1 Synonymous SNV L838L 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Benign 13.12 60733 chr2 216914068 216914068 T G PECR Nonsynonymous SNV E211A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.051 60734 chr2 217026751 217026751 A C rs778076339 XRCC5 Nonsynonymous SNV K605T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 28.1 60735 chr12 118636853 118636853 T A rs760652254 TAOK3 Synonymous SNV V399V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.327 60736 chr2 111875388 111875388 C T rs193151657 ACOXL Nonsynonymous SNV L580F 0.011 0.013 0.014 5 13 5 0.013 4 0 0 0 0 28.5 60737 chr22 39711468 39711468 G A rs368072771 RPL3 Synonymous SNV R198R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 60738 chr2 218937527 218937527 G A rs56214433 RUFY4 Nonsynonymous SNV R102H 0.009 0.008 0.017 4 11 3 0.01 5 0 0 0 0 29.4 60739 chr2 227915847 227915847 C T rs13027659 COL4A4 Nonsynonymous SNV G999E 0.015 0.016 0.01 5 18 6 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 60740 chr2 219846749 219846749 G A rs860573 FEV Synonymous SNV G119G 0.031 0.023 0.034 5 36 9 0.013 10 1 0 0 0 12.19 60741 chr10 33469280 33469280 T A NRP1 Synonymous SNV G815G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.519 60742 chr2 219204562 219204562 G T rs201495280 PNKD Nonsynonymous SNV R74L 0.002 0 0 5 2 0 0.013 0 0 0 0 1 Uncertain significance 24.2 60743 chr2 113480121 113480121 G A rs1021036424 NT5DC4 Nonsynonymous SNV D116N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 8.736 60744 chr2 228384735 228384735 A G rs1135969 AGFG1 Synonymous SNV Q111Q 0.027 0.055 0.051 14 32 21 0.036 15 1 2 0 0 1.14 60745 chr10 35819098 35819098 A G rs373953848 CCNY Nonsynonymous SNV K36R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 60746 chr10 38121743 38121743 A G rs74514409 ZNF248 Synonymous SNV H180H 0.016 0.026 0.02 7 19 10 0.018 6 0 1 0 0 0.019 60747 chr2 219411698 219411698 C T rs773661362 USP37 Synonymous SNV T182T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.76 60748 chr22 41940063 41940063 G A POLR3H Nonsynonymous SNV P15S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 60749 chr2 228860349 228860349 C T rs112749989 SPHKAP Nonsynonymous SNV D1504N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 60750 chr2 228884530 228884530 G A rs61752225 SPHKAP Nonsynonymous SNV S347F 0.008 0.008 0.014 5 9 3 0.013 4 0 0 0 0 15.85 60751 chr10 44345331 44345331 G A rs116903743 LINC00619 0 0 0.003 0 0 0 0 1 0 0 0 0 5.576 60752 chr2 229890579 229890579 G A rs147550577 PID1 Synonymous SNV N92N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.11 60753 chr12 121471532 121471532 C A rs28360476 OASL Synonymous SNV G71G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 15.12 60754 chr12 121600252 121600252 G A rs28360448 P2RX7 Synonymous SNV V154V 0.019 0.021 0.024 4 22 8 0.01 7 0 0 0 0 5.982 60755 chr2 219695480 219695480 C T rs1013713457 PRKAG3 Nonsynonymous SNV G73D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.087 60756 chr2 113940730 113940730 T C rs12472091 PSD4 Nonsynonymous SNV S233P 0.032 0.055 0.024 7 38 21 0.018 7 1 2 0 0 16.42 60757 chr2 231110601 231110601 A G rs778173710 SP140 Nonsynonymous SNV I230V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 60758 chr12 121711962 121711962 C T rs35403710 CAMKK2 Nonsynonymous SNV C123Y 0.025 0.018 0.014 8 29 7 0.021 4 0 0 0 0 0.002 60759 chr2 113958973 113958973 G A rs143129434 PSD4 Nonsynonymous SNV R1051Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 34 60760 chr12 122247838 122247838 T C SETD1B Synonymous SNV Y329Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.001 60761 chr12 122260947 122260947 G A rs144871159 SETD1B Nonsynonymous SNV A1488T 0.022 0.013 0.024 5 26 5 0.013 7 0 0 0 0 7.977 60762 chr12 122246136 122246136 T C rs145928437 SETD1B Synonymous SNV Y189Y 0.016 0.003 0.014 4 19 1 0.01 4 0 0 0 0 0.243 60763 chr12 122247853 122247853 C T rs61736010 SETD1B Synonymous SNV P334P 0.016 0.003 0.014 4 19 1 0.01 4 0 0 0 0 6.079 60764 chr12 122260549 122260549 T C rs58801491 SETD1B Nonsynonymous SNV L1355P 0.023 0.023 0.024 8 27 9 0.021 7 0 0 0 0 0.145 60765 chr2 220096678 220096678 A C rs13007650 ANKZF1 Nonsynonymous SNV R59S 0.015 0.008 0.014 4 18 3 0.01 4 0 0 0 0 Benign 7.059 60766 chr22 43539309 43539309 C A rs200527554 MCAT Nonsynonymous SNV A16S 0.009 0.013 0 10 10 5 0.026 0 0 0 0 0 5.479 60767 chr13 26156087 26156087 T C rs142872070 ATP8A2 Nonsynonymous SNV I673T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 28.1 60768 chr12 13061583 13061583 A G rs146456083 GPRC5A Nonsynonymous SNV I134V 0.023 0.023 0.024 11 27 9 0.028 7 0 0 0 0 0.532 60769 chr10 46999209 46999209 G A rs140015219 GPRIN2 Nonsynonymous SNV R110Q 0.013 0.01 0.02 7 15 4 0.018 6 0 0 0 0 12.45 60770 chr12 122848540 122848540 C A CLIP1 Nonsynonymous SNV A258S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 60771 chr12 123297902 123297902 C T rs55716280 CCDC62 Nonsynonymous SNV T646M 0.009 0.018 0.027 5 11 7 0.013 8 0 0 0 0 32 60772 chr12 123285785 123285785 G A rs61735889 CCDC62 Synonymous SNV Q364Q 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign 8.209 60773 chr12 123339915 123339915 T C rs184197853 HIP1R Nonsynonymous SNV I319T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.4 60774 chr2 118577277 118577277 C T rs41279754 DDX18 Synonymous SNV A141A 0.007 0.008 0.014 0 8 3 0 4 0 0 0 0 14.07 60775 chr12 123341771 123341771 T C rs911642971 HIP1R Synonymous SNV P608P 0.003 0 0 4 4 0 0.01 0 0 0 0 0 1.065 60776 chr2 233399048 233399048 A G rs144433265 CHRND Nonsynonymous SNV N262S 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 Uncertain significance 22.6 60777 chr12 124092065 124092065 G A rs61756271 DDX55 Synonymous SNV E111E 0.006 0.01 0.003 4 7 4 0.01 1 0 0 0 0 6.921 60778 chr12 124171433 124171433 C T rs147485641 TCTN2 Synonymous SNV G204G 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.07 60779 chr10 47087499 47087499 G A rs114592738 NPY4R, NPY4R2 Nonsynonymous SNV R239Q 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 5.613 60780 chr2 234360615 234360615 C T rs373455625 DGKD Nonsynonymous SNV R681W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 60781 chr12 124323029 124323029 C A rs58292766 DNAH10 Synonymous SNV P1525P 0.008 0.013 0.01 5 9 5 0.013 3 0 0 0 0 14.73 60782 chr12 124323081 124323081 G A rs60509888 DNAH10 Nonsynonymous SNV V1543I 0.008 0.013 0.01 5 9 5 0.013 3 0 0 0 0 Benign 0.3 60783 chr2 220431802 220431802 G A rs115194510 OBSL1 Synonymous SNV Y628Y 0.03 0.057 0.048 18 35 22 0.046 14 1 3 0 2 Likely benign 3.555 60784 chr12 124330532 124330532 G A rs56096831 DNAH10 Nonsynonymous SNV R1764Q 0.008 0.01 0.014 5 9 4 0.013 4 0 0 0 0 Benign 20.7 60785 chr2 220439916 220439916 G A rs12720062 INHA Nonsynonymous SNV A257T 0.03 0.057 0.048 16 35 22 0.041 14 1 3 0 2 Benign 7.567 60786 chr12 124352505 124352505 T A rs61730202 DNAH10 Nonsynonymous SNV L2335H 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 1.082 60787 chr12 124352590 124352590 C T rs61735933 DNAH10 Synonymous SNV D2363D 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 8.855 60788 chr2 234688327 234688327 A G rs17863803 MROH2A Synonymous SNV Q35Q 0.032 0.029 0.041 11 37 11 0.028 12 0 1 0 0 3.125 60789 chr2 122176275 122176275 A G rs186502681 CLASP1 Nonsynonymous SNV M748T 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 12.3 60790 chr12 124358121 124358121 A G rs11835416 DNAH10 Nonsynonymous SNV N2483S 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 16.98 60791 chr2 179721046 179721046 G A rs17362588 CCDC141 Nonsynonymous SNV R935W 0.066 0.065 0.065 35 78 25 0.09 19 3 2 2 1 29.1 60792 chr12 124360032 124360032 C T rs11834289 DNAH10 Synonymous SNV H2613H 0.015 0.013 0.017 9 18 5 0.023 5 1 0 0 0 10.57 60793 chr10 50364232 50364232 G A rs559844625 TMEM273 Nonsynonymous SNV S112L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.181 60794 chr13 35923326 35923326 G A rs151318906 NBEA Synonymous SNV E1995E 0.008 0.01 0.007 0 9 4 0 2 0 0 0 0 Benign 8.695 60795 chr2 18112338 18112338 G - KCNS3 G23Afs*58 0.001 0 0 0 1 0 0 0 0 0 0 0 60796 chr12 124887058 124887058 - GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT NCOR2 Q509_P510insQQQQQQQQQQ 0.003 0 0 1 4 0 0.003 0 0 0 0 0 60797 chr12 124826598 124826598 T C rs2230942 NCOR2 Synonymous SNV R1643R 0.024 0.042 0.014 14 28 16 0.036 4 1 0 0 1 2.316 60798 chr2 235950667 235950667 C T rs755732006 SH3BP4 Synonymous SNV S418S 0 0.005 0 0 0 2 0 0 0 0 0 0 12.01 60799 chr12 124856830 124856830 C T rs142292731 NCOR2 Nonsynonymous SNV E831K 0.01 0.008 0.017 5 12 3 0.013 5 0 0 0 0 11.93 60800 chr22 47062747 47062747 G C rs776790001 GRAMD4 Nonsynonymous SNV V305L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 60801 chr10 53059406 53059406 T C rs2043556 MIR605 0 0 0.16 0 0 0 0 47 0 0 9 0 2.44 60802 chr12 126138953 126138953 C T rs142308513 TMEM132B Synonymous SNV F490F 0.016 0.01 0.007 2 19 4 0.005 2 0 0 0 0 11.98 60803 chr22 47134013 47134013 T C rs151275636 CERK Synonymous SNV Q11Q 0.004 0.01 0.003 4 5 4 0.01 1 1 0 0 0 0.03 60804 chr12 22048230 22048230 A G rs370463895 ABCC9 Synonymous SNV I546I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 9.788 60805 chr2 239002511 239002511 C A SCLY Nonsynonymous SNV L311M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.5 60806 chr12 131484942 131484942 C T rs138575002 ADGRD1 Synonymous SNV A327A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.55 60807 chr12 25267613 25267613 T C rs34164267 CASC1 Nonsynonymous SNV T359A 0.019 0.013 0.02 3 22 5 0.008 6 0 0 0 0 2.833 60808 chr2 139316900 139316900 G A rs145753116 SPOPL Nonsynonymous SNV S236N 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 19.73 60809 chr2 232325439 232325441 TCG - rs534320031 NCL D250del 0.005 0.013 0.003 6 6 5 0.015 1 0 0 0 0 60810 chr2 232393423 232393423 G A rs113159138 NMUR1 Synonymous SNV A103A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.2 60811 chr12 132402026 132402026 G A rs55770096 ULK1 Synonymous SNV P751P 0.048 0.044 0.048 25 56 17 0.064 14 2 1 0 0 9.372 60812 chr12 132404675 132404675 G A rs754491040 ULK1 Synonymous SNV V985V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.804 60813 chr2 231406070 231406070 G A rs17275036 SP100 Nonsynonymous SNV A796T 0.103 0.099 0.122 35 121 38 0.09 36 8 4 2 2 24 60814 chr12 132529368 132529368 G A rs141740536 EP400 Synonymous SNV P2218P 0.009 0.005 0.01 12 10 2 0.031 3 0 0 0 0 Benign 5.905 60815 chr22 50659598 50659598 C T rs149231425 TUBGCP6 Nonsynonymous SNV G1064R 0.038 0.036 0.041 14 45 14 0.036 12 1 1 0 0 29.5 60816 chr10 6392848 6392848 G A rs744254 LINC02656 0 0 0.69 0 0 0 0 203 0 0 72 0 3.768 60817 chr2 233712225 233712225 - CG rs371622656 GIGYF2 Frameshift insertion Q1205Hfs*25 0.031 0.018 0.024 13 36 7 0.033 7 1 0 0 0 60818 chr2 233712227 233712227 - G rs775324034 GIGYF2 Frameshift insertion Q1205Afs*46 0.031 0.018 0.027 13 36 7 0.033 8 1 0 1 0 60819 chr12 133146697 133146697 G A rs185543325 FBRSL1 Nonsynonymous SNV A293T 0.036 0.018 0.02 8 42 7 0.021 6 0 0 0 0 14.12 60820 chr2 232879671 232879671 C T rs723044 DIS3L2 Nonsynonymous SNV P12S 0.02 0.021 0.027 9 24 8 0.023 8 0 0 0 0 Benign 0.075 60821 chr12 133146805 133146805 G A rs139566867 FBRSL1 Nonsynonymous SNV A329T 0.037 0.026 0.027 9 44 10 0.023 8 0 0 0 0 0.385 60822 chr2 233348851 233348851 C G rs41265123 ECEL1 Nonsynonymous SNV E423Q 0.042 0.01 0.027 10 49 4 0.026 8 1 0 0 0 Benign 22 60823 chr2 191848443 191848443 C T rs144704615 STAT1 Synonymous SNV V457V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.7 60824 chr2 241696843 241696843 - TCC KIF1A E917_D918insE 0.009 0.01 0 4 11 4 0.01 0 0 0 0 0 60825 chr2 234229320 234229320 A G rs7565275 SAG Nonsynonymous SNV I76V 0.035 0.042 0.041 13 41 16 0.033 12 0 1 1 0 Benign 11.83 60826 chr2 234255548 234255548 T C rs1046976 SAG Nonsynonymous SNV V403A 0.068 0.065 0.065 30 80 25 0.077 19 2 2 1 3 Benign 0.001 60827 chr2 234371351 234371351 G A rs2228939 DGKD Synonymous SNV T1008T 0.089 0.086 0.095 35 105 33 0.09 28 5 2 2 5 15.99 60828 chr22 50901036 50901036 G A rs199672732 SBF1 Synonymous SNV H694H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.675 60829 chr12 133331514 133331514 A T rs201151374 ANKLE2 Synonymous SNV A129A 0.009 0.016 0.003 7 11 6 0.018 1 0 0 0 0 Likely benign 0.003 60830 chr2 234581003 234581003 T G rs138301590 UGT1A9 Synonymous SNV S141S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.506 60831 chr10 70696818 70696818 C T rs61743874 DDX50 Synonymous SNV S574S 0.024 0.018 0.041 14 28 7 0.036 12 0 0 0 0 14.18 60832 chr2 152663406 152663406 C T rs61737675 ARL5A Synonymous SNV Q103Q 0.016 0.023 0.02 7 19 9 0.018 6 0 1 0 0 13.56 60833 chr2 152717331 152717331 A T rs61736804 CACNB4 Synonymous SNV I220I 0.025 0.021 0.041 10 29 8 0.026 12 0 1 0 0 Benign 5.746 60834 chr22 51065361 51065361 C A rs6151415 ARSA Nonsynonymous SNV W195C 0.062 0.073 0.092 21 73 28 0.054 27 2 1 0 1 Benign/Likely benign 27 60835 chr13 20716885 20716885 G A rs74607195 GJA3 Synonymous SNV C181C 0.015 0.021 0.031 8 18 8 0.021 9 0 0 0 0 Benign 9.432 60836 chr2 242572950 242572950 C G rs146241024 THAP4 Nonsynonymous SNV G208R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.652 60837 chr13 21306140 21306140 A G rs35948132 EEF1AKMT1 Synonymous SNV I116I 0.035 0.029 0.024 10 41 11 0.026 7 0 0 0 0 0.022 60838 chr13 21374333 21374333 A G rs9579954 XPO4 Synonymous SNV T703T 0.075 0.086 0.075 26 88 33 0.067 22 2 1 1 1 1.332 60839 chr2 201355043 201355043 T C KCTD18 Nonsynonymous SNV N354S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.17 60840 chr2 236403462 236403462 C T rs8178993 AGAP1 Synonymous SNV N44N 0.032 0.034 0.017 13 38 13 0.033 5 2 0 0 0 12.83 60841 chr13 21729289 21729289 - CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA SKA3 K374Cfs*46 0.015 0.021 0.037 13 18 8 0.033 11 0 0 0 0 60842 chr13 24242165 24242165 C T rs61745191 TNFRSF19 Synonymous SNV S129S 0.083 0.055 0.068 36 97 21 0.092 20 4 2 0 2 10.26 60843 chr13 21746644 21746644 - GCTTTCCTCTCCGTCCAGCGCTCACTGCAGCCGGGCCGTCTCGCAG rs763038733 SKA3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 60844 chr2 24435599 24435599 G A rs41281481 ITSN2 Nonsynonymous SNV R1297W 0.025 0.034 0.024 14 29 13 0.036 7 0 0 0 0 29 60845 chr12 48723575 48723575 G A H1-7 Synonymous SNV K167K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.732 60846 chr2 26203943 26203966 CACCACCACCACTGCCTCCACCGC - rs770285846 KIF3C G274_G281del 0 0.003 0 0 0 1 0 0 0 0 0 0 60847 chr2 160698826 160698826 C T rs6721024 LY75, LY75-CD302 Synonymous SNV P1070P 0.008 0.008 0.007 0 9 3 0 2 0 0 0 0 19.39 60848 chr2 26534041 26534041 T C rs115282281 ADGRF3 Nonsynonymous SNV Y653C 0.009 0.016 0.017 1 10 6 0.003 5 0 0 0 0 25.1 60849 chr2 160710934 160710934 G A rs116391174 LY75, LY75-CD302 Synonymous SNV H844H 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 9.929 60850 chr10 75397607 75397607 C T rs144920278 MYOZ1 Synonymous SNV L49L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 60851 chr2 160755272 160755272 T C rs114308056 LY75, LY75-CD302 Synonymous SNV T131T 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 0.042 60852 chr13 28240021 28240021 C T rs41291680 POLR1D Synonymous SNV S72S 0.026 0.042 0.027 21 30 16 0.054 8 0 1 0 2 Benign 9.961 60853 chr12 49164684 49164684 A C rs772680766 ADCY6 Nonsynonymous SNV S1041A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24 60854 chr13 28712740 28712740 - GGCGGCGGC rs779468176 PAN3-AS1 0.044 0.055 0.163 26 52 21 0.067 48 5 4 6 0 60855 chr13 28712743 28712743 T C rs111938639 PAN3-AS1 0.052 0.065 0.163 31 61 25 0.079 48 6 4 7 0 13.91 60856 chr2 103281690 103281690 A G rs761952938 SLC9A2 Nonsynonymous SNV I295M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 60857 chr2 27308159 27308159 G A rs36045790 EMILIN1 Nonsynonymous SNV E903K 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 11.66 60858 chr13 28896979 28896979 C T rs56314249 FLT1 Synonymous SNV A967A 0.02 0.008 0.01 5 23 3 0.013 3 0 0 0 0 not provided 13.25 60859 chr10 79396126 79396126 G C rs570212657 KCNMA1 Synonymous SNV R231R 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 15.29 60860 chr2 105696476 105696476 T G rs202077550 MRPS9 Nonsynonymous SNV Y149D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 60861 chr13 28964198 28964198 C T rs17537350 FLT1 Synonymous SNV T568T 0.042 0.029 0.051 12 49 11 0.031 15 1 0 1 1 12.5 60862 chr2 239051448 239051448 C T rs372601997 KLHL30 Synonymous SNV L261L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.96 60863 chr2 23926203 23926203 C T rs186841907 KLHL29 Synonymous SNV Y751Y 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 11.03 60864 chr2 239253177 239253177 A C rs61756349 TRAF3IP1 Nonsynonymous SNV D400A 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 Likely benign 22.8 60865 chr12 50747757 50747757 G A rs781428935 FAM186A Nonsynonymous SNV A953V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.002 60866 chr2 241404058 241404058 G A rs141626394 GPC1 Synonymous SNV K303K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.21 60867 chr2 241570284 241570284 C T rs142918765 GPR35 Synonymous SNV C305C 0.019 0.021 0.024 8 22 8 0.021 7 0 0 0 0 8.606 60868 chr2 241661934 241661934 G A rs141441058 KIF1A Nonsynonymous SNV A1434V 0.006 0.008 0 1 7 3 0.003 0 1 0 0 0 Conflicting interpretations of pathogenicity 16.56 60869 chr10 85992390 85992390 G T rs12262099 LRIT1 Nonsynonymous SNV P389T 0.025 0.013 0.044 8 29 5 0.021 13 0 0 0 0 0.011 60870 chr2 241526428 241526428 C G rs138005500 CAPN10 Nonsynonymous SNV L34V 0.01 0.005 0.003 5 12 2 0.013 1 0 0 0 0 Benign 18.84 60871 chr2 169103865 169103865 - GCC STK39 A27_P28insA 0.012 0.01 0 2 14 4 0.005 0 1 1 0 0 60872 chr10 88466465 88466465 C T rs45459491 LDB3 Synonymous SNV A358A 0.014 0.021 0.034 6 16 8 0.015 10 0 0 0 0 Benign 4.185 60873 chr2 11052660 11052660 G T rs146949759 KCNF1 Synonymous SNV L36L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 3.624 60874 chr13 37014167 37014167 C T rs150999500 CCNA1 Synonymous SNV T314T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.244 60875 chr2 11053923 11053923 G A rs115526526 KCNF1 Synonymous SNV A457A 0.011 0.016 0.007 5 13 6 0.013 2 0 0 0 0 0.009 60876 chr2 170013904 170013904 A C rs79723119 LRP2 Nonsynonymous SNV V3999G 0.01 0.021 0.003 2 12 8 0.005 1 0 0 0 0 Benign 0.005 60877 chr2 242035468 242035470 TCC - rs781212965 MTERF4 E175del 0.005 0.008 0 1 6 3 0.003 0 1 0 0 0 60878 chr2 24205852 24205852 C T rs141503335 UBXN2A Nonsynonymous SNV S125F 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 27 60879 chr2 242039064 242039064 G C rs116089745 MTERF4 Synonymous SNV S89S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.7 60880 chr2 31600017 31600017 C T rs45471294 XDH Synonymous SNV K443K 0.014 0.021 0.01 11 17 8 0.028 3 0 0 0 1 Benign 14.31 60881 chr2 170411698 170411698 C G rs12618227 FASTKD1 Nonsynonymous SNV E361Q 0.035 0.036 0.01 8 41 14 0.021 3 0 2 0 0 12.75 60882 chr2 113831941 113831941 G A rs72827872 IL1F10 Nonsynonymous SNV R23K 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 5.507 60883 chr10 94264628 94264628 T A IDE Synonymous SNV T412T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 60884 chr13 39542626 39542626 G A rs202188494 STOML3 Stop gain R188X 0.003 0 0 0 4 0 0 0 0 0 0 0 41 60885 chr2 170417031 170417031 T C rs35933910 FASTKD1 Synonymous SNV Q256Q 0.035 0.036 0.017 8 41 14 0.021 5 0 2 0 0 0.009 60886 chr2 32666411 32666411 T C rs41291167 BIRC6 Synonymous SNV N1275N 0.037 0.039 0.061 9 43 15 0.023 18 0 1 0 0 0.098 60887 chr2 170510651 170510651 C T rs61741435 CCDC173 Nonsynonymous SNV R298K 0.035 0.036 0.017 8 41 14 0.021 5 0 2 0 0 23.2 60888 chr13 42876647 42876649 ATT - rs201337751 AKAP11 L1256del 0.008 0.008 0.003 5 9 3 0.013 1 0 0 0 0 60889 chr2 242373730 242373730 G A rs202141587 FARP2 Nonsynonymous SNV R342K 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 32 60890 chr13 109704760 109704760 C T rs2303965 MYO16 Synonymous SNV L995L 0.029 0.021 0.003 13 34 8 0.033 1 0 1 0 0 8.356 60891 chr10 95093619 95093619 G A rs61861290 MYOF Nonsynonymous SNV P1526S 0.014 0.031 0.034 10 17 12 0.026 10 0 0 0 0 26.2 60892 chr13 109793177 109793177 G A rs150813880 MYO16 Synonymous SNV K1539K 0.032 0.021 0.017 14 37 8 0.036 5 0 0 0 0 7.317 60893 chr2 24244721 24244721 C T rs112498523 MFSD2B Nonsynonymous SNV P259S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.042 60894 chr2 242610729 242610729 G A rs147409061 ATG4B Synonymous SNV L339L 0.005 0.026 0.007 4 6 10 0.01 2 0 0 0 0 4.036 60895 chr12 52793859 52793859 G A rs748948979 KRT82 Synonymous SNV D284D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.234 60896 chr12 52799941 52799941 C T rs763665856 KRT82 Nonsynonymous SNV G41R 0.007 0.01 0 0 8 4 0 0 0 0 0 0 22.4 60897 chr13 46559703 46559703 T C rs17067518 ZC3H13 Synonymous SNV R483R 0.02 0.021 0.017 8 24 8 0.021 5 0 0 1 0 1.036 60898 chr10 96828323 96828323 T C rs2071426 CYP2C8 0 0 0.293 0 0 0 0 86 0 0 17 0 Benign 0.907 60899 chr2 24413473 24413473 C T rs146891535 FAM228A Synonymous SNV H198H 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 4.468 60900 chr10 97174306 97174306 G A rs34507864 SORBS1 Nonsynonymous SNV P243L 0.034 0.023 0.02 7 40 9 0.018 6 1 0 0 0 23.2 60901 chr2 26174744 26174744 C T rs71441005 KIF3C Synonymous SNV P640P 0.032 0.029 0.031 16 38 11 0.041 9 0 0 0 2 14.74 60902 chr10 97387248 97387248 A G rs41291566 ALDH18A1 Synonymous SNV I131I 0.021 0.018 0.031 10 25 7 0.026 9 0 0 0 0 Benign 8.207 60903 chr10 97687049 97687049 G C rs41291582 CC2D2B Nonsynonymous SNV S99T 0.029 0.003 0.027 5 34 1 0.013 8 0 0 0 0 20.2 60904 chr13 113201853 113201882 TGGGAAAGTCGCGCGTGGGAAAGTCGCGCG - rs753558203 TUBGCP3 T407_P416del 0.037 0.039 0.007 7 44 15 0.018 2 3 0 0 1 60905 chr10 97726004 97726004 T C rs41306856 CC2D2B Synonymous SNV L471L 0.032 0.01 0.037 10 37 4 0.026 11 1 0 0 0 1.083 60906 chr2 26501615 26501615 G T HADHB Nonsynonymous SNV M177I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.82 60907 chr13 113508800 113508800 G A ATP11A Synonymous SNV T733T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.28 60908 chr2 26532911 26532911 C T rs753868847 ADGRF3 Synonymous SNV L848L 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 10.86 60909 chr2 26532916 26532916 A T rs778891223 ADGRF3 Nonsynonymous SNV S847T 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 13.3 60910 chr10 98742043 98742043 A G rs112594620 LCOR Nonsynonymous SNV E609G 0.033 0.036 0.037 16 39 14 0.041 11 0 0 0 0 0.005 60911 chr2 178936994 178936994 A - rs529789124 PDE11A T58Pfs*41 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 60912 chr2 179392277 179392277 A G rs72629793 TTN Nonsynonymous SNV M26794T 0.008 0.018 0 2 9 7 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.53 60913 chr2 179424388 179424388 G A rs200709344 TTN Nonsynonymous SNV T19759I 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.2 60914 chr2 217526640 217526640 G C rs771107802 IGFBP2 Synonymous SNV P244P 0.004 0 0 0 5 0 0 0 0 0 0 0 12.25 60915 chr13 114112389 114112389 T C rs41286638 DCUN1D2 Synonymous SNV E245E 0.013 0.008 0.031 6 15 3 0.015 9 0 0 0 0 0.33 60916 chr2 27282229 27282229 T A rs34931609 AGBL5 Synonymous SNV S682S 0.02 0.003 0.02 7 24 1 0.018 6 0 0 0 0 Benign 8.954 60917 chr13 115090582 115090582 C T rs782510090 CHAMP1 Nonsynonymous SNV P422L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.13 60918 chr14 20389606 20389606 G A rs77615110 OR4K5 Nonsynonymous SNV V281I 0.007 0.01 0.01 1 8 4 0.003 3 0 0 0 0 0.065 60919 chr11 100556133 100556133 T G rs646240 LOC100128386 0 0 0.129 0 0 0 0 38 0 0 3 0 7.773 60920 chr14 20389721 20389721 G A rs17242341 OR4K5 Nonsynonymous SNV R319K 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 1.495 60921 chr14 20404238 20404238 G A rs3916626 OR4K1 Nonsynonymous SNV R138Q 0.009 0.01 0.007 1 11 4 0.003 2 0 0 0 0 6.969 60922 chr13 53240958 53240958 G T rs61756205 SUGT1 Nonsynonymous SNV L177F 0.014 0.021 0.007 3 16 8 0.008 2 0 0 0 0 20.7 60923 chr2 131116531 131116531 A G rs150560639 PTPN18 Nonsynonymous SNV Y62C 0 0 0 4 0 0 0.01 0 0 0 0 0 24.5 60924 chr2 43927374 43927374 A G rs115528845 PLEKHH2 Nonsynonymous SNV K426R 0.011 0.01 0.01 7 13 4 0.018 3 0 0 0 0 3.869 60925 chr2 179547967 179547967 G A rs773225325 TTN Nonsynonymous SNV A9709V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 13.54 60926 chr2 219206738 219206738 C A rs34745867 PNKD Synonymous SNV R194R 0.015 0.01 0.01 7 18 4 0.018 3 1 0 0 0 Benign 21.8 60927 chr11 1016842 1016842 T G rs34490696 MUC6 Nonsynonymous SNV T1987P 0.013 0.013 0.099 5 15 5 0.013 29 0 0 0 0 23.3 60928 chr2 27461368 27461368 T C rs144692793 CAD Nonsynonymous SNV F1581L 0.018 0.005 0.007 7 21 2 0.018 2 0 0 0 0 Likely benign 27.7 60929 chr13 61989175 61989175 G T rs3812874 PCDH20 Nonsynonymous SNV S39R 0.043 0.039 0.071 20 50 15 0.051 21 1 1 0 0 17.04 60930 chr11 1016881 1016881 C T MUC6 Nonsynonymous SNV G1974R 0.007 0.003 0.071 1 8 1 0.003 21 0 0 0 0 19.33 60931 chr13 67477723 67477723 G T rs149470963 PCDH9 Nonsynonymous SNV S1017R 0.005 0.01 0.007 4 6 4 0.01 2 0 0 0 0 22.5 60932 chr11 1016882 1016882 T G MUC6 Synonymous SNV T1973T 0.007 0 0.071 1 8 0 0.003 21 0 0 0 0 5.253 60933 chr2 44589196 44589196 C T CAMKMT Nonsynonymous SNV A17V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.08 60934 chr2 27799773 27799773 A C rs115018606 C2orf16 Nonsynonymous SNV N112H 0.02 0.003 0.014 9 24 1 0.023 4 1 0 0 0 0.011 60935 chr2 179599473 179599473 C G rs72648929 TTN Nonsynonymous SNV V3816L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.38 60936 chr2 48018236 48018236 G T rs3211299 MSH6 Nonsynonymous SNV S144I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 24.4 60937 chr12 53454763 53454763 G A rs200449214 TNS2 Nonsynonymous SNV D1035N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.2 60938 chr2 27802145 27802145 T C rs139381292 C2orf16 Synonymous SNV T902T 0.012 0.01 0.003 1 14 4 0.003 1 0 0 0 0 5.899 60939 chr2 179615844 179615844 C G rs200816462 TTN Nonsynonymous SNV K3761N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.871 60940 chr11 1016967 1016967 G C MUC6 Nonsynonymous SNV T1945R 0.002 0 0.085 0 2 0 0 25 0 0 0 0 7.443 60941 chr2 27802746 27802746 C A rs760303267 C2orf16 Nonsynonymous SNV P1103T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25 60942 chr11 1016973 1016976 GTGT - MUC6 H1942Pfs*42 0 0 0.037 0 0 0 0 11 0 0 0 0 60943 chr2 27852264 27852264 A G rs115359167 GPN1 Synonymous SNV P10P 0.022 0.003 0.014 9 26 1 0.023 4 2 0 0 0 5.942 60944 chr2 220037608 220037608 A C rs151183191 CNPPD1 Nonsynonymous SNV S311R 0.028 0.016 0.037 9 33 6 0.023 11 2 0 0 0 25.1 60945 chr11 1016987 1016987 G C MUC6 Nonsynonymous SNV I1938M 0 0 0.061 0 0 0 0 18 0 0 0 0 10.21 60946 chr2 28824803 28824803 G A rs72793588 PLB1 Nonsynonymous SNV R871H 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 23.7 60947 chr11 1016989 1016989 T C MUC6 Nonsynonymous SNV I1938V 0.002 0 0.058 0 2 0 0 17 0 0 0 0 0.601 60948 chr2 28802544 28802544 C T rs114238908 PLB1 Synonymous SNV G523G 0.007 0 0 5 8 0 0.013 0 0 0 0 0 Benign 14.07 60949 chr13 73346905 73346905 C T rs35288597 DIS3 Nonsynonymous SNV D315N 0.009 0.01 0.017 4 11 4 0.01 5 0 0 0 0 34 60950 chr2 220045902 220045902 C T rs2293073 RETREG2 Synonymous SNV A46A 0.03 0.026 0.034 9 35 10 0.023 10 2 0 1 0 16.33 60951 chr13 73401237 73401237 G A rs61999297 PIBF1 Nonsynonymous SNV R299Q 0.009 0.013 0.017 4 11 5 0.01 5 0 0 0 0 25.7 60952 chr13 76445363 76445363 C T LMO7DN 0.005 0 0 2 6 0 0.005 0 0 0 0 0 22.6 60953 chr13 77625946 77625946 C T rs117836900 MYCBP2 Synonymous SNV Q4585Q 0.024 0.026 0.017 13 28 10 0.033 5 0 0 0 0 Benign 12.26 60954 chr2 54858146 54858146 C T rs572718999 SPTBN1 Synonymous SNV L975L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 60955 chr13 95275394 95275394 A G rs139988296 GPR180 Nonsynonymous SNV D309G 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 23.7 60956 chr12 53946410 53946410 G A rs33921258 ATF7, ATF7-NPFF Synonymous SNV N20N 0.077 0.078 0.071 32 90 30 0.082 21 0 0 3 1 6.336 60957 chr2 32463248 32463248 A G rs747331080 NLRC4 Nonsynonymous SNV I160T 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Uncertain significance 26.8 60958 chr2 30974063 30974063 C G rs201335752 CAPN13 Nonsynonymous SNV G381A 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 13.96 60959 chr13 100962156 100962156 A G rs35719359 PCCA Nonsynonymous SNV I401V 0.035 0.044 0.027 18 41 17 0.046 8 0 0 0 0 Benign/Likely benign 19.1 60960 chr2 62065773 62065773 T A FAM161A Stop gain R551X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 60961 chr13 101184563 101184563 C T GGACT Nonsynonymous SNV V95I 0.003 0 0 0 4 0 0 0 0 0 0 0 0.029 60962 chr13 102220193 102220193 G T rs1140605 ITGBL1 Nonsynonymous SNV A13S 0.03 0.047 0.027 16 35 18 0.041 8 1 0 0 0 23.2 60963 chr11 1017834 1017834 G A rs201440145 MUC6 Nonsynonymous SNV P1656L 0.03 0.029 0.082 6 35 11 0.015 24 0 0 0 0 17.45 60964 chr11 1017891 1017891 G T MUC6 Nonsynonymous SNV A1637E 0.025 0.018 0.075 6 29 7 0.015 22 0 0 0 0 0.255 60965 chr11 1017892 1017892 C G rs75500881 MUC6 Nonsynonymous SNV A1637P 0.022 0.018 0.088 6 26 7 0.015 26 0 0 0 0 0.222 60966 chr2 224760311 224760311 C T rs141890749 WDFY1 Nonsynonymous SNV R212Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 60967 chr2 226378339 226378339 C T rs181736689 NYAP2 Synonymous SNV V158V 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 9.66 60968 chr2 37032669 37032669 G A rs72785023 VIT Synonymous SNV V381V 0.013 0.01 0.007 4 15 4 0.01 2 0 0 0 0 12.31 60969 chr2 32582241 32582241 T C rs115758817 BIRC6 Synonymous SNV G4G 0.015 0.005 0.024 3 18 2 0.008 7 0 0 0 0 8.42 60970 chr2 32656153 32656153 C T rs150059343 BIRC6 Synonymous SNV T1081T 0.018 0.008 0.024 3 21 3 0.008 7 0 0 0 0 Benign 11.5 60971 chr2 32689842 32689842 C T rs61754195 BIRC6 Nonsynonymous SNV P1736L 0.018 0.008 0.024 3 21 3 0.008 7 0 0 0 0 Benign 27.4 60972 chr2 32702561 32702561 G A rs61754196 BIRC6 Synonymous SNV E2326E 0.018 0.008 0.024 3 21 3 0.008 7 0 0 0 0 Benign 9.368 60973 chr11 1019355 1019355 G A rs755584547 MUC6 Nonsynonymous SNV T1317M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 60974 chr2 32718615 32718615 T C rs61754197 BIRC6 Synonymous SNV P2783P 0.035 0.026 0.041 21 41 10 0.054 12 1 0 0 0 0.277 60975 chr2 69650730 69650730 G A rs74637005 NFU1 Nonsynonymous SNV R96C 0.018 0.01 0.017 8 21 4 0.021 5 0 0 0 0 Benign/Likely benign 23.5 60976 chr2 32774505 32774505 C T rs61754202 BIRC6 Synonymous SNV S4367S 0.019 0.01 0.027 3 22 4 0.008 8 0 0 0 0 Benign 16.94 60977 chr2 32819010 32819010 G A rs61754241 BIRC6 Nonsynonymous SNV V4462I 0.019 0.01 0.027 3 22 4 0.008 8 0 0 0 0 Benign 15.91 60978 chr12 56862376 56862376 A G rs747866281 SPRYD4 Star tloss M1? 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.6 60979 chr2 69734636 69734636 G A rs55889248 AAK1 Nonsynonymous SNV T694M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 27.4 60980 chr12 56994482 56994482 A T BAZ2A Nonsynonymous SNV S1529T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.6 60981 chr11 102667447 102667447 A - rs17879749 MMP1 I125Mfs*45 0.007 0.01 0.014 1 8 4 0.003 4 0 0 0 0 60982 chr11 102711201 102711201 C T rs148047905 MMP3 Nonsynonymous SNV R250H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.262 60983 chr12 57111520 57111588 GTGGGGGCCCCTTTGGGGGGTGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGTT - NACA T1243_T1265del 0.026 0.01 0.01 11 30 4 0.028 3 3 0 0 0 60984 chr2 70387787 70387787 G A rs148563389 C2orf42 Nonsynonymous SNV P496S 0 0.003 0 0 0 1 0 0 0 0 0 0 28 60985 chr2 160636688 160636688 A T CD302, LY75-CD302 Nonsynonymous SNV D62E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.4 60986 chr13 110435728 110435728 C G rs75172981 IRS2 Synonymous SNV T891T 0.022 0.036 0.031 14 26 14 0.036 9 0 0 1 0 3.688 60987 chr2 37304070 37304070 G A HEATR5B Nonsynonymous SNV S144F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.2 60988 chr2 162091931 162091931 C G rs56075631 TANK Nonsynonymous SNV R394G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 60989 chr12 57501519 57501519 G - STAT6 L42Wfs*52 0.004 0.003 0 0 5 1 0 0 0 0 0 0 60990 chr2 42909702 42909702 A G rs370192354 MTA3 Synonymous SNV K232K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.257 60991 chr2 44059195 44059195 G C rs145164937 ABCG5 Nonsynonymous SNV A98G 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 60992 chr2 44116871 44116871 A G LRPPRC 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 60993 chr14 23548783 23548783 - GAACGAGAACGT ACIN1 S607_A608insRSRS 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 60994 chr2 39029908 39029908 G A rs146662521 DHX57 Synonymous SNV F1220F 0.01 0.005 0.003 5 12 2 0.013 1 0 0 0 0 13.48 60995 chr13 111143601 111143601 A G rs117412802 COL4A2 Nonsynonymous SNV E1123G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 25.1 60996 chr2 1668743 1668743 G T PXDN Synonymous SNV A465A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 60997 chr11 1078627 1078627 G A rs750847605 MUC2 Nonsynonymous SNV G279S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 60998 chr2 48722897 48722897 G T rs142541304 PPP1R21 Nonsynonymous SNV G560V 0.013 0.008 0.01 8 15 3 0.021 3 0 0 0 0 Benign 29.9 60999 chr14 23829153 23829153 C A rs115947674 EFS Synonymous SNV P85P 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 10.25 61000 chr2 196740524 196740524 T C rs62623377 DNAH7 Nonsynonymous SNV Y2054C 0.015 0.005 0.01 4 18 2 0.01 3 0 0 0 0 Likely benign 27 61001 chr2 196749512 196749512 T C rs62623593 DNAH7 Nonsynonymous SNV I1854V 0.018 0.005 0.014 5 21 2 0.013 4 0 0 0 0 Benign 7.287 61002 chr13 113718723 113718723 T G rs201672761 MCF2L Nonsynonymous SNV C161G 0.003 0.003 0.003 8 3 1 0.021 1 0 0 0 1 13.27 61003 chr13 113980025 113980025 T C rs200423762 GRTP1 Nonsynonymous SNV K291R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.534 61004 chr12 62784700 62784700 G T rs202037541 USP15 Nonsynonymous SNV C385F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 17.43 61005 chr12 62894636 62894636 T A rs17120341 MON2 Synonymous SNV A213A 0.088 0.065 0.109 32 103 25 0.082 32 8 1 4 1 12.33 61006 chr11 1090933 1090933 C A rs41455844 MUC2 Synonymous SNV T1276T 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 12.43 61007 chr14 24522938 24522938 A C rs118132597 CARMIL3 Nonsynonymous SNV S21R 0.009 0.013 0.007 2 10 5 0.005 2 0 0 0 0 23 61008 chr2 197530375 197530375 A G rs749977575 CCDC150 Nonsynonymous SNV M244V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 61009 chr11 1093569 1093569 A C rs72842460 MUC2 Synonymous SNV T1796T 0.025 0.031 0.051 13 29 12 0.033 15 0 0 0 0 0.002 61010 chr11 1093575 1093575 G C rs201450769 MUC2 Synonymous SNV T1798T 0.015 0.018 0.034 8 18 7 0.021 10 0 0 0 0 2.216 61011 chr2 197735679 197735679 G C rs62185645 PGAP1 Nonsynonymous SNV Q196E 0.006 0.005 0.01 8 7 2 0.021 3 0 0 0 0 Benign/Likely benign 15.78 61012 chr2 74689670 74689670 C T rs751395514 MOGS Nonsynonymous SNV G416R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 61013 chr11 1093610 1093610 C G rs200926577 MUC2 Nonsynonymous SNV T1810S 0.02 0.026 0.031 8 24 10 0.021 9 0 0 0 0 0.003 61014 chr13 114498154 114498154 G C rs150323609 TMEM255B Nonsynonymous SNV V96L 0.012 0.01 0.007 5 14 4 0.013 2 0 0 0 0 24.8 61015 chr11 1093611 1093611 C T rs751414957 MUC2 Synonymous SNV T1810T 0.02 0.026 0.031 8 24 10 0.021 9 0 0 0 0 5.555 61016 chr14 24613224 24613224 C T rs147705721 PSME2 Nonsynonymous SNV R171H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.3 61017 chr11 110451885 110451885 A G rs10488765 ARHGAP20 Synonymous SNV D572D 0.062 0.047 0.099 23 73 18 0.059 29 1 0 1 2 0.065 61018 chr13 114502374 114502374 C T rs140209642 TMEM255B Synonymous SNV Y135Y 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 3.485 61019 chr13 114537716 114537716 G A rs997105138 GAS6-AS1 0 0 0 3 0 0 0.008 0 0 0 0 0 0.603 61020 chr13 114541133 114541133 G A GAS6 Synonymous SNV G166G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.41 61021 chr13 114622491 114622491 G T LINC00452 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.843 61022 chr12 66717784 66717784 T A rs35536133 HELB Synonymous SNV V773V 0.023 0.021 0.017 5 27 8 0.013 5 0 0 0 0 0.941 61023 chr12 66717910 66717910 G T rs34109029 HELB Synonymous SNV T815T 0.024 0.023 0.017 5 28 9 0.013 5 0 0 0 0 1.93 61024 chr2 74757554 74757554 G T rs72470544 HTRA2 Nonsynonymous SNV A141S 0.036 0.049 0.034 16 42 19 0.041 10 0 2 0 0 Benign 0.008 61025 chr2 169711899 169711899 G A rs773928664 NOSTRIN Nonsynonymous SNV R270Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 61026 chr11 111747725 111747725 C T rs144833582 FDXACB1 Nonsynonymous SNV V114I 0.015 0.023 0.01 5 18 9 0.013 3 0 0 0 0 22.8 61027 chr2 75107420 75107420 C T rs148796379 HK2 Nonsynonymous SNV R432W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 61028 chr2 47278952 47278952 C G rs139460494 TTC7A Synonymous SNV P341P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 12.47 61029 chr2 55771169 55771169 A T rs1045920 CFAP36 Nonsynonymous SNV I246F 0.055 0.047 0.031 16 65 18 0.041 9 3 1 0 0 17.09 61030 chr2 55777083 55777088 TTCTTC - rs750697639 PPP4R3B E752_E753del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 61031 chr12 69083373 69083373 G A rs139991199 NUP107 Nonsynonymous SNV E16K 0.014 0.01 0 3 16 4 0.008 0 0 0 0 0 23.3 61032 chr2 55872538 55872538 T C rs7594497 PNPT1 Nonsynonymous SNV N590D 0.061 0.044 0.007 17 72 17 0.044 2 3 1 0 0 Benign 20.5 61033 chr14 20665878 20665878 G C rs77418176 OR11G2 Nonsynonymous SNV K128N 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 23.5 61034 chr14 20666041 20666041 G A rs76496435 OR11G2 Nonsynonymous SNV V183M 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 4.85 61035 chr14 25042909 25042909 G A rs61737118 CTSG Synonymous SNV F234F 0.012 0.013 0 7 14 5 0.018 0 0 0 0 0 9.711 61036 chr11 113283484 113283484 G C rs1801028 DRD2 Nonsynonymous SNV S282C 0.017 0.023 0.02 6 20 9 0.015 6 0 1 0 0 Benign 25.2 61037 chr14 25100364 25100364 A G rs142875748 GZMB Synonymous SNV Y207Y 0.011 0.01 0 8 13 4 0.021 0 0 0 0 0 Benign 0.031 61038 chr14 20692305 20692305 G A rs17106351 OR11H6 Nonsynonymous SNV R146H 0.035 0.044 0.01 18 41 17 0.046 3 1 0 0 0 11.78 61039 chr2 53955982 53955982 T A rs1127767 ASB3, GPR75-ASB3 Nonsynonymous SNV E84D 0.037 0.016 0.024 18 43 6 0.046 7 0 0 1 1 21.3 61040 chr14 20844010 20844010 G A rs140076747 TEP1 Synonymous SNV D1981D 0.007 0.023 0.003 2 8 9 0.005 1 0 0 0 0 7.629 61041 chr14 20779822 20779822 C T rs147146951 CCNB1IP1 Nonsynonymous SNV G241S 0.003 0.008 0.003 5 3 3 0.013 1 0 0 0 0 18.42 61042 chr2 202672632 202672632 C T rs199758419 CDK15 Synonymous SNV L109L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 61043 chr14 20848415 20848415 C T rs34401320 TEP1 Nonsynonymous SNV R1553Q 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 Benign 9.195 61044 chr14 20850156 20850156 C G rs1713457 TEP1 Nonsynonymous SNV S1339T 0.02 0.018 0.027 6 23 7 0.015 8 0 0 0 0 0.022 61045 chr14 20920309 20920309 C A OSGEP 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.5 61046 chr2 55252795 55252795 G T rs80121116 RTN4 Nonsynonymous SNV L608M 0.013 0.013 0.014 4 15 5 0.01 4 0 0 0 0 Likely benign 1.65 61047 chr11 116729123 116729123 G T SIK3 Nonsynonymous SNV L912M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 61048 chr2 172935797 172935797 A G rs143265099 METAP1D Nonsynonymous SNV S117G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 61049 chr2 238249550 238249550 G A rs142851023 COL6A3 Nonsynonymous SNV A2063V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Uncertain significance 13.06 61050 chr2 174062736 174062736 A G rs146924556 MAP3K20-AS1 0 0 0.007 3 0 0 0.008 2 0 0 0 0 9.601 61051 chr2 238296769 238296769 G A rs79606264 COL6A3 Synonymous SNV V50V 0.043 0.039 0.027 15 50 15 0.038 8 2 1 0 0 Benign 7.346 61052 chr12 81503375 81503375 C T rs770447768 ACSS3 Synonymous SNV A115A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.62 61053 chr2 239009074 239009074 G A rs7578912 ESPNL Nonsynonymous SNV R5Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.38 61054 chr11 118067494 118067494 C T rs150082618 JAML Nonsynonymous SNV E311K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 61055 chr2 61431488 61431488 C T rs188105570 USP34 Nonsynonymous SNV R3096Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 31 61056 chr2 70057253 70057253 G A rs148875956 GMCL1 Nonsynonymous SNV E77K 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 23.6 61057 chr14 21167907 21167907 C T rs143629764 RNASE4 Nonsynonymous SNV A126V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.36 61058 chr2 70406718 70406718 C A rs141350086 C2orf42 Nonsynonymous SNV A294S 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 15.75 61059 chr2 61706051 61706051 T C rs1031122650 XPO1 Nonsynonymous SNV I1040M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.35 61060 chr11 118215174 118215174 G A rs181713283 CD3G Synonymous SNV L12L 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Uncertain significance 1.736 61061 chr2 70933491 70933491 C T rs34241538 ADD2 Nonsynonymous SNV G33E 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 Benign 18.87 61062 chr2 64780404 64780404 G A rs145180972 AFTPH Nonsynonymous SNV R599Q 0.008 0.003 0.014 1 9 1 0.003 4 0 0 0 0 18.54 61063 chr11 118873910 118873910 - G rs372996397 RPL23AP64 0 0 0.908 0 0 0 0 267 0 0 133 0 61064 chr2 71351575 71351575 G A rs111033538 MCEE Stop gain R47X 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Pathogenic 35 61065 chr12 94769769 94769769 G A rs74340001 CEP83 Nonsynonymous SNV R201W 0.037 0.042 0 19 44 16 0.049 0 1 0 0 1 31 61066 chr14 22038731 22038731 C G rs12886819 OR10G3 Nonsynonymous SNV V49L 0.044 0.039 0.044 27 52 15 0.069 13 0 1 0 1 17.62 61067 chr11 119064502 119064502 C T rs200128781 CCDC153 Nonsynonymous SNV R77Q 0.001 0.005 0.01 4 1 2 0.01 3 0 0 0 0 13.28 61068 chr2 209180073 209180073 C A rs41305979 PIKFYVE Synonymous SNV I661I 0.015 0.026 0.01 5 18 10 0.013 3 1 0 0 0 Likely benign 20.5 61069 chr2 70165316 70165316 G A rs150336449 MXD1 Nonsynonymous SNV R179Q 0.01 0.003 0.01 8 12 1 0.021 3 0 0 0 0 25.6 61070 chr12 97334265 97334265 A G rs758218672 NEDD1 Nonsynonymous SNV D310G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.5 61071 chr2 73679013 73679013 A G rs45608038 ALMS1 Nonsynonymous SNV N1786D 0.025 0.026 0.031 7 29 10 0.018 9 0 0 1 0 Benign 0.001 61072 chr14 51352608 51352608 T C rs2297893 ABHD12B Synonymous SNV G142G 0.029 0.049 0.037 11 34 19 0.028 11 0 1 0 0 10.05 61073 chr12 100444984 100444984 G A rs7296162 UHRF1BP1L Nonsynonymous SNV S1147L 0.078 0.068 0.058 15 92 26 0.038 17 2 1 1 1 4.828 61074 chr2 179612913 179612913 G A rs147513899 TTN Synonymous SNV T4738T 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 Benign/Likely benign 2.83 61075 chr2 242033696 242033696 T C rs57117519 MTERF4 Synonymous SNV A224A 0.112 0.115 0.065 40 131 44 0.103 19 10 3 1 2 2.53 61076 chr3 101401692 101401692 A C rs141408063 RPL24 Synonymous SNV G84G 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 3.168 61077 chr14 23373495 23373495 C T rs557116761 RBM23 Nonsynonymous SNV R268H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.3 61078 chr11 121008606 121008606 A - TECTA K1140Sfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 61079 chr2 242035544 242035544 G C rs2240539 MTERF4 Nonsynonymous SNV L151V 0.112 0.115 0.061 40 132 44 0.103 18 10 3 1 2 0.366 61080 chr2 242039198 242039198 T C rs3796093 MTERF4 Nonsynonymous SNV T45A 0.112 0.115 0.061 40 131 44 0.103 18 10 3 1 2 14.54 61081 chr2 21231278 21231278 G A rs72653095 APOB Nonsynonymous SNV P2821L 0.014 0.01 0.003 11 17 4 0.028 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.98 61082 chr2 242063448 242063448 G A rs2302052 PASK Synonymous SNV A940A 0.11 0.115 0.058 40 129 44 0.103 17 9 3 0 2 15.42 61083 chr14 23587838 23587838 G T rs141903485 CEBPE Nonsynonymous SNV L155M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 24.8 61084 chr14 23586795 23586795 G A rs55722931 CEBPE Synonymous SNV R249R 0.023 0.026 0.017 6 27 10 0.015 5 1 0 0 0 Benign 13.24 61085 chr2 242065944 242065944 C T rs35129131 PASK Nonsynonymous SNV E796K 0.043 0.039 0.01 18 50 15 0.046 3 3 0 0 1 25.6 61086 chr2 242066830 242066830 G A rs2240544 PASK Synonymous SNV H500H 0.109 0.109 0.061 38 128 42 0.097 18 10 3 1 2 1.65 61087 chr11 122775089 122775089 C A rs751629509 JHY Synonymous SNV T267T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 61088 chr11 122829964 122829964 A T rs145581972 JHY Nonsynonymous SNV E689D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 22.1 61089 chr12 104056737 104056737 G A rs148397037 STAB2 Synonymous SNV L661L 0.054 0.052 0.058 22 63 20 0.056 17 0 0 0 1 7.58 61090 chr14 52781341 52781341 A T rs1353410 PTGER2 Synonymous SNV P25P 0.046 0.065 0.048 17 54 25 0.044 14 1 1 0 0 1.437 61091 chr14 53080437 53080437 G A rs557086463 GPR137C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.971 61092 chr2 84880939 84880939 C T rs533261870 DNAH6 Nonsynonymous SNV L1859F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 61093 chr3 108117534 108117534 C T MYH15 Nonsynonymous SNV E1715K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 61094 chr2 73435601 73435601 T C rs17008862 NOTO Synonymous SNV T152T 0.065 0.052 0.068 25 76 20 0.064 20 2 0 1 1 0.226 61095 chr2 73492463 73492463 G A rs188487265 FBXO41 Nonsynonymous SNV A504V 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 0.232 61096 chr14 24035159 24035159 G A rs181392829 AP1G2 Nonsynonymous SNV R99C 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 7.213 61097 chr2 185801311 185801311 C T rs34345078 ZNF804A Synonymous SNV P396P 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Benign 6.573 61098 chr14 24629744 24629744 G A rs2277484 RNF31 Nonsynonymous SNV V910I 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 23.5 61099 chr3 109052829 109052829 T C rs141397323 DPPA4 Synonymous SNV T22T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 61100 chr2 186653679 186653679 G C FSIP2 Nonsynonymous SNV V606L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.035 61101 chr14 24845185 24845185 C T rs45570732 NFATC4 Nonsynonymous SNV T645M 0.016 0.018 0.031 6 19 7 0.015 9 0 0 1 0 27 61102 chr2 186658089 186658089 C A rs74508015 FSIP2 Nonsynonymous SNV L2076M 0.009 0.005 0.02 4 10 2 0.01 6 1 0 0 0 6 61103 chr12 109186023 109186023 G T rs149188196 SSH1 Synonymous SNV S655S 0.014 0.01 0.034 2 16 4 0.005 10 0 0 0 0 1.847 61104 chr2 218713469 218713469 G A rs3815849 TNS1 Nonsynonymous SNV R466C 0.006 0.008 0.017 5 7 3 0.013 5 0 0 0 0 22.1 61105 chr2 219028932 219028932 G A rs16858808 CXCR1 Nonsynonymous SNV R335C 0.044 0.042 0.037 14 52 16 0.036 11 2 0 0 0 25.4 61106 chr2 219029843 219029843 A C rs16858811 CXCR1 Nonsynonymous SNV M31R 0.044 0.042 0.044 14 52 16 0.036 13 2 0 0 0 0.001 61107 chr2 186661399 186661399 A G rs115715789 FSIP2 Nonsynonymous SNV N3179S 0.009 0.005 0.02 4 10 2 0.01 6 1 0 0 0 0.002 61108 chr2 219204534 219204534 G A rs147259983 PNKD Nonsynonymous SNV G65R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign/Likely benign 34 61109 chr14 31495346 31495346 C T rs2281563 STRN3 Nonsynonymous SNV A16T 0.082 0.083 0.082 36 96 32 0.092 24 4 0 2 1 18.7 61110 chr2 74881514 74881514 C G rs187477207 SEMA4F Nonsynonymous SNV S4C 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.261 61111 chr14 31578762 31578762 C T rs17097735 HECTD1 Synonymous SNV E2107E 0.104 0.133 0.099 46 122 51 0.118 29 4 1 2 2 14.95 61112 chr2 95824624 95824624 G T rs77501534 ZNF514 Synonymous SNV G35G 0.01 0.01 0.007 4 12 4 0.01 2 0 0 0 0 6.486 61113 chr14 31598248 31598248 A G rs17097743 HECTD1 Synonymous SNV S1443S 0.101 0.13 0.088 46 118 50 0.118 26 3 1 2 2 0.397 61114 chr2 219496909 219496909 A G rs61752210 PLCD4 Synonymous SNV E441E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.447 61115 chr14 31619392 31619392 T C rs11620816 HECTD1 Synonymous SNV Q656Q 0.104 0.133 0.105 46 122 51 0.118 31 4 1 2 2 0.106 61116 chr2 27278906 27278906 C G rs140111286 AGBL5 Nonsynonymous SNV P422R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 61117 chr2 219513947 219513947 C T rs61733647 ZNF142 Synonymous SNV A228A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 13.54 61118 chr12 110573210 110573210 C G rs79498242 IFT81 Nonsynonymous SNV L222V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 23.2 61119 chr12 110944445 110944445 T C rs199732022 RAD9B Nonsynonymous SNV I40T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26 61120 chr12 110950584 110950584 G T rs142054907 RAD9B Nonsynonymous SNV G58V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.8 61121 chr2 219903756 219903756 G A rs201461858 CFAP65 Synonymous SNV T5T 0.003 0 0 0 3 0 0 0 0 0 0 0 3.871 61122 chr12 111078238 111078238 C T rs16940927 TCTN1 Synonymous SNV L298L 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign/Likely benign 7.554 61123 chr3 112727222 112727222 G T rs62265060 NEPRO Nonsynonymous SNV S177Y 0.005 0.01 0.01 4 6 4 0.01 3 0 0 0 0 13.78 61124 chr12 111082836 111082836 G T rs118096349 TCTN1 Nonsynonymous SNV G417C 0.017 0.013 0.007 5 20 5 0.013 2 0 0 0 0 Benign 24.5 61125 chr2 220034277 220034277 T C SLC23A3 Nonsynonymous SNV M96V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 61126 chr3 112729503 112729503 T C rs369216017 NEPRO Nonsynonymous SNV H154R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 61127 chr3 112993292 112993292 C T rs13093741 BOC Synonymous SNV L435L 0.016 0.023 0.027 5 19 9 0.013 8 0 0 0 0 8.929 61128 chr2 84816015 84816015 A G rs1006244 DNAH6 Synonymous SNV Q849Q 0.053 0.052 0.031 11 62 20 0.028 9 4 1 0 0 Benign 0.029 61129 chr2 84897501 84897501 A G rs17025409 DNAH6 Nonsynonymous SNV Y2119C 0.045 0.044 0.024 8 53 17 0.021 7 4 1 0 0 Benign 24 61130 chr2 220078006 220078006 C T rs145526996 ABCB6 Nonsynonymous SNV G542S 0.002 0 0 0 2 0 0 0 0 0 0 0 32 61131 chr2 189898847 189898847 G A rs78905646 COL5A2 Synonymous SNV G1483G 0.014 0.008 0.017 7 16 3 0.018 5 0 0 0 0 Benign/Likely benign 11.39 61132 chr2 84932720 84932720 A G rs61750773 DNAH6 Nonsynonymous SNV K2859R 0.05 0.06 0.037 10 59 23 0.026 11 5 2 0 0 18.02 61133 chr12 112696326 112696326 C A rs149620143 HECTD4 Nonsynonymous SNV Q1034H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.7 61134 chr2 189918622 189918622 G A rs116298748 COL5A2 Nonsynonymous SNV P833L 0.014 0.008 0.02 6 16 3 0.015 6 0 0 0 0 Benign/Likely benign 25.9 61135 chr2 85039563 85039563 C T rs2276610 DNAH6 Synonymous SNV P3946P 0.052 0.065 0.037 12 61 25 0.031 11 5 2 0 0 17.21 61136 chr2 189931144 189931144 A G rs35852101 COL5A2 Nonsynonymous SNV V512A 0.015 0.008 0.02 6 18 3 0.015 6 0 0 0 0 Benign/Likely benign 22.8 61137 chr2 220115512 220115512 T C rs141922502 TUBA4A Synonymous SNV V288V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.053 61138 chr3 113376113 113376113 - TGC USF3 Q1478_A1479insQ 0.026 0.031 0 11 31 12 0.028 0 0 0 0 0 61139 chr2 85059227 85059227 C T rs61744273 TRABD2A Nonsynonymous SNV R296H 0.042 0.057 0.031 9 49 22 0.023 9 3 2 0 0 23.7 61140 chr2 190320083 190320083 C A rs6737615 WDR75 Synonymous SNV S137S 0.023 0.018 0.027 8 27 7 0.021 8 1 1 1 0 15.9 61141 chr2 190329873 190329873 A G rs13429203 WDR75 Synonymous SNV A394A 0.024 0.018 0.027 8 28 7 0.021 8 1 1 1 0 12.09 61142 chr14 38208319 38208319 C T rs877126 TTC6 Synonymous SNV F790F 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 9.17 61143 chr2 27802206 27802206 C G rs373269581 C2orf16 Nonsynonymous SNV Q923E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 61144 chr14 38724041 38724043 GAG - rs530380827 CLEC14A S396del 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 61145 chr2 190626322 190626322 T G rs371744999 OSGEPL1 Synonymous SNV S26S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.552 61146 chr14 64537498 64537498 A C rs35203186 SYNE2 Nonsynonymous SNV K3523Q 0.037 0.031 0.017 8 44 12 0.021 5 0 0 0 0 Benign 0.027 61147 chr12 113515832 113515832 C A rs190645916 DTX1 Nonsynonymous SNV T288N 0.012 0.008 0.017 5 14 3 0.013 5 1 0 1 0 15.46 61148 chr3 101384038 101384038 T C rs765543633 ZBTB11 Nonsynonymous SNV I465V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.001 61149 chr3 101483899 101483899 C T rs368747293 CEP97 Nonsynonymous SNV S642F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 61150 chr3 119134391 119134391 C T rs3732414 ARHGAP31 Synonymous SNV P1205P 0.033 0.039 0.044 17 39 15 0.044 13 1 0 0 0 Benign 6.434 61151 chr12 113821966 113821966 G T rs746605375 PLBD2 Synonymous SNV R338R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.416 61152 chr3 101568494 101568494 G A NFKBIZ Nonsynonymous SNV D8N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 61153 chr3 119219573 119219573 A G rs11539377 TIMMDC1 Nonsynonymous SNV N76D 0.032 0.039 0.051 17 38 15 0.044 15 1 0 0 0 0.25 61154 chr14 45481271 45481271 C T rs144530053 TOGARAM1 Synonymous SNV P1077P 0.022 0.016 0.01 7 26 6 0.018 3 0 1 0 0 8.06 61155 chr3 119236104 119236104 G A rs57168946 TIMMDC1 Nonsynonymous SNV V217I 0.032 0.039 0.044 17 37 15 0.044 13 1 0 0 0 0.057 61156 chr14 37153962 37153962 - G SLC25A21 Frameshift insertion Y258Lfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 61157 chr14 45521707 45521707 A G rs376344740 TOGARAM1 Nonsynonymous SNV Y1408C 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 23.4 61158 chr2 196681546 196681546 G A rs139963761 DNAH7 Synonymous SNV A3189A 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Benign 14.36 61159 chr14 45716333 45716335 AGG - rs573451535 MIS18BP1 S52del 0.005 0 0 3 6 0 0.008 0 0 0 0 0 61160 chr2 220404484 220404484 G C rs62191582 CHPF Nonsynonymous SNV A488G 0.02 0.016 0.037 6 23 6 0.015 11 0 0 0 0 12.63 61161 chr14 64954187 64954187 C T rs61743629 ZBTB25 Synonymous SNV R254R 0.025 0.029 0.027 10 29 11 0.026 8 0 0 0 0 11.16 61162 chr14 38206919 38206919 G A rs149657043 TTC6 Nonsynonymous SNV A671T 0.017 0.01 0.007 1 20 4 0.003 2 1 0 0 0 0.52 61163 chr2 198338579 198338579 A T rs61745365 COQ10B Synonymous SNV A166A 0.014 0.01 0.01 1 17 4 0.003 3 0 0 0 0 5.692 61164 chr11 126969206 126969206 A G LOC101929473 0 0 0.003 0 0 0 0 1 0 0 0 0 4.27 61165 chr11 128781257 128781257 G A rs142140011 KCNJ5 Nonsynonymous SNV R30H 0 0 0.003 0 0 0 0 1 0 0 0 0 28 61166 chr2 96950323 96950323 C T rs143898031 SNRNP200 Nonsynonymous SNV V1389I 0.014 0.021 0.01 8 17 8 0.021 3 1 0 0 0 Benign/Likely benign 22.6 61167 chr14 50923249 50923249 C T rs12881869 MAP4K5 Nonsynonymous SNV A334T 0.045 0.031 0.041 19 53 12 0.049 12 1 0 0 0 22.2 61168 chr2 201354938 201354945 GGCGCGGT - rs565245989 KCTD18 T387Lfs*30 0.014 0.018 0.017 7 16 7 0.018 5 0 0 0 0 61169 chr11 129817139 129817139 C T rs146674256 PRDM10 Nonsynonymous SNV D55N 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 23.4 61170 chr2 97543641 97543641 G C FAM178B Nonsynonymous SNV H124D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25 61171 chr2 223386557 223386557 A G rs3739000 SGPP2 Synonymous SNV V22V 0.019 0.008 0.017 8 22 3 0.021 5 0 0 0 0 5.859 61172 chr2 223386578 223386578 C T rs3738999 SGPP2 Synonymous SNV I29I 0.019 0.008 0.017 8 22 3 0.021 5 0 0 0 0 15.45 61173 chr2 223559987 223559987 G - rs199514206 MOGAT1 A280Pfs*16 0.011 0.008 0.017 8 13 3 0.021 5 0 0 0 0 61174 chr2 98809432 98809432 T C rs74735968 VWA3B Nonsynonymous SNV I170T 0.04 0.016 0.024 21 47 6 0.054 7 1 0 0 0 24.5 61175 chr3 10974860 10974860 C G rs202074163 SLC6A11 Synonymous SNV L465L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.76 61176 chr14 71455317 71455317 G A rs34655198 PCNX1 Nonsynonymous SNV R782H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 26 61177 chr11 133806073 133806073 G A IGSF9B Synonymous SNV V232V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 61178 chr11 1471906 1471906 G A rs144438382 BRSK2 Synonymous SNV T459T 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 11.54 61179 chr14 50789476 50789476 G A rs17122388 DMAC2L Nonsynonymous SNV D119N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.257 61180 chr3 100174634 100174634 G A rs188444196 LNP1 Nonsynonymous SNV R134K 0.005 0.013 0.003 1 6 5 0.003 1 0 0 0 0 1.362 61181 chr14 50901768 50901768 G A rs17780143 MAP4K5 Nonsynonymous SNV T633M 0.039 0.036 0.027 12 46 14 0.031 8 2 0 0 0 33 61182 chr2 36737128 36737128 G A rs12997487 CRIM1 Nonsynonymous SNV E502K 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 28.3 61183 chr12 122332664 122332664 A C rs531015929 PSMD9 Nonsynonymous SNV N53T 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 14.11 61184 chr2 228157954 228157954 G A rs147085074 COL4A3 Synonymous SNV G1086G 0.009 0 0.007 1 10 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.92 61185 chr14 55864146 55864146 G A rs61743178 ATG14 Synonymous SNV I76I 0.049 0.07 0.068 22 58 27 0.056 20 4 0 2 0 14.33 61186 chr3 123303824 123303824 A G rs112371142 HACD2 Synonymous SNV G17G 0.014 0.016 0.007 2 17 6 0.005 2 0 0 0 0 11.9 61187 chr3 123453061 123453061 A G rs3796164 MYLK Nonsynonymous SNV V85A 0.021 0.005 0.01 2 25 2 0.005 3 0 0 1 0 Benign/Likely benign 11.83 61188 chr11 17436865 17436865 G A rs1801261 ABCC8 Synonymous SNV T759T 0.016 0.023 0.017 2 19 9 0.005 5 1 0 0 0 Benign/Likely benign 8.592 61189 chr3 105266106 105266106 G C rs201544285 ALCAM Nonsynonymous SNV E406D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.85 61190 chr14 52534758 52534758 C G rs61734508 NID2 Nonsynonymous SNV G118R 0.006 0.008 0 7 7 3 0.018 0 0 0 0 0 34 61191 chr12 123950153 123950153 C T rs73412248 SNRNP35 Synonymous SNV T22T 0.009 0.01 0 8 10 4 0.021 0 0 0 0 0 8.504 61192 chr14 60212781 60212781 C T rs147824671 RTN1 Synonymous SNV L220L 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 9.78 61193 chr14 77493605 77493605 C T rs372608089 IRF2BPL Synonymous SNV P177P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.12 61194 chr14 55227103 55227103 C T rs12879706 SAMD4A Synonymous SNV A58A 0.095 0.076 0.092 20 111 29 0.051 27 6 0 1 0 15.07 61195 chr14 55604902 55604902 C A rs201924703 LGALS3 Nonsynonymous SNV A53D 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 8.89 61196 chr11 18472525 18472525 A G rs117703340 LDHC Nonsynonymous SNV K284E 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 13.72 61197 chr3 12544924 12544924 G A rs763286358 TSEN2 Nonsynonymous SNV V158I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.661 61198 chr2 210543361 210543361 C A rs138065981 MAP2 Nonsynonymous SNV Q110K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 31 61199 chr11 18636405 18636405 T C rs148648653 SPTY2D1 Synonymous SNV P472P 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 0.199 61200 chr14 77896048 77896048 C T rs45447095 VIPAS39 Synonymous SNV L365L 0.009 0.016 0.007 5 10 6 0.013 2 0 0 0 0 Benign 13.77 61201 chr14 62213865 62213865 T - rs750111993 HIF1A-AS2 0 0 0.003 1 0 0 0.003 1 0 0 0 0 61202 chr2 210810599 210810599 A G rs10178327 UNC80 Synonymous SNV T2340T 0.033 0.031 0.041 12 39 12 0.031 12 0 0 2 0 6.74 61203 chr2 210810644 210810644 G A rs10202111 UNC80 Synonymous SNV A2355A 0.033 0.031 0.037 12 39 12 0.031 11 0 0 1 0 1.494 61204 chr2 233323014 233323014 C T rs146257849 ALPI Nonsynonymous SNV A360V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 61205 chr2 210818971 210818971 G A rs16843977 UNC80 Synonymous SNV L2412L 0.028 0.026 0.034 10 33 10 0.026 10 0 0 1 0 9.759 61206 chr3 126724042 126724042 G A rs116047844 PLXNA1 Nonsynonymous SNV R618H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.67 61207 chr2 21230828 21230828 T G rs72653098 APOB Nonsynonymous SNV N2971T 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.03 61208 chr3 127327309 127327309 G A rs3087450 MCM2 Nonsynonymous SNV A396T 0.009 0.018 0.014 3 11 7 0.008 4 0 0 0 0 Benign/Likely benign 26.1 61209 chr14 64593355 64593355 A C rs886042291 SYNE2 Nonsynonymous SNV S4583R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 11.33 61210 chr2 46607644 46607644 C T rs41281469 EPAS1 Synonymous SNV A611A 0.009 0.013 0.007 1 10 5 0.003 2 0 0 0 0 Benign 8.331 61211 chr2 46609572 46609572 A C rs59901247 EPAS1 Nonsynonymous SNV T766P 0.01 0.013 0.024 2 12 5 0.005 7 0 0 2 0 Benign 0.043 61212 chr14 64600800 64600800 T A rs141488398 SYNE2 Nonsynonymous SNV F4843Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 61213 chr3 112666731 112666731 C T rs149835762 CD200R1 Synonymous SNV L36L 0.009 0.008 0.014 0 11 3 0 4 0 0 0 0 4.275 61214 chr14 64746728 64746728 C T ESR2 Nonsynonymous SNV C169Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 61215 chr14 62229285 62229285 T G rs74810099 SNAPC1 Nonsynonymous SNV M36R 0.016 0.031 0.02 4 19 12 0.01 6 1 0 0 0 22 61216 chr3 128634099 128634100 AG - rs149138641 KIAA1257 L757Vfs*3 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 61217 chr12 132326206 132326206 C T rs74716970 MMP17 Synonymous SNV H248H 0.01 0.008 0 0 12 3 0 0 0 0 0 0 Benign 16.91 61218 chr2 216251538 216251538 G A rs139078629 FN1 Nonsynonymous SNV R1405W 0.011 0.008 0.003 10 13 3 0.026 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 61219 chr2 216262556 216262556 T G rs138709133 FN1 Nonsynonymous SNV S1122R 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 29.2 61220 chr3 128991030 128991030 C T rs769010324 MIR6826 0 0.003 0 0 0 1 0 0 0 0 0 0 7.329 61221 chr14 68053899 68053899 C T rs111462449 PLEKHH1 Stop gain R1348X 0.023 0.021 0.007 18 27 8 0.046 2 0 0 0 0 Benign 41 61222 chr3 129155938 129155938 C T rs779323026 MBD4 Synonymous SNV K183K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.42 61223 chr3 129275262 129275262 C T rs371220331 PLXND1 Nonsynonymous SNV A1891T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.7 61224 chr12 132504639 132504639 C T rs147615479 EP400 Synonymous SNV T1441T 0.01 0.008 0.007 0 12 3 0 2 0 0 0 0 Benign 18.06 61225 chr11 22296266 22296266 C T rs61910685 ANO5 Nonsynonymous SNV S795L 0.009 0.01 0.02 5 11 4 0.013 6 0 0 0 0 Benign/Likely benign 9.83 61226 chr3 118647438 118647438 G A rs61744389 IGSF11 Synonymous SNV D114D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.011 61227 chr12 133242016 133242016 C T rs5744822 POLE Synonymous SNV S780S 0.035 0.023 0.037 9 41 9 0.023 11 3 0 0 0 Benign 10.54 61228 chr14 70991193 70991193 C T rs144800201 ADAM20 Synonymous SNV E94E 0 0 0 2 0 0 0.005 0 0 0 0 0 12.4 61229 chr2 237272522 237272522 G A rs367546535 IQCA1 Synonymous SNV T549T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 61230 chr2 237405961 237405961 C T rs149361092 IQCA1 Nonsynonymous SNV D61N 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 27.3 61231 chr14 92537354 92537356 CCT - rs759967732 ATXN3 G24del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 61232 chr2 238233427 238233427 A G rs148183839 COL6A3 Nonsynonymous SNV M2568T 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.836 61233 chr11 2439574 2439574 G A rs769573056 TRPM5 Synonymous SNV A243A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 61234 chr3 130285880 130285880 C T rs112472535 COL6A6 Synonymous SNV C539C 0.012 0.008 0.014 6 14 3 0.015 4 0 0 0 0 3.438 61235 chr14 73726133 73726133 G A rs550033960 PAPLN Nonsynonymous SNV R622Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.076 61236 chr3 130318621 130318621 C A rs112135798 COL6A6 Synonymous SNV G1540G 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 14.83 61237 chr3 130380970 130380970 G A rs114298837 COL6A6 Nonsynonymous SNV R2107Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 61238 chr14 73743631 73743631 G A rs748146173 NUMB Synonymous SNV N478N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.946 61239 chr2 238253152 238253152 C T rs34181055 COL6A3 Synonymous SNV R1896R 0.037 0.036 0.01 10 44 14 0.026 3 1 1 0 0 Benign 7.69 61240 chr14 93652754 93652754 A G TMEM251 Nonsynonymous SNV H77R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.658 61241 chr2 62449865 62449865 C T rs142907987 B3GNT2 Synonymous SNV N170N 0.015 0.016 0.017 6 18 6 0.015 5 0 0 0 0 3.502 61242 chr2 64779195 64779195 G A rs114044411 AFTPH Nonsynonymous SNV G196E 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.5 61243 chr14 68157137 68157137 A C rs146872574 RDH11 Synonymous SNV G152G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.16 61244 chr14 69061259 69061259 C G rs28908468 RAD51B Nonsynonymous SNV P365R 0.033 0.021 0.017 10 39 8 0.026 5 0 0 0 0 drug response 0.243 61245 chr13 20216261 20216261 G A rs142067434 MPHOSPH8 Nonsynonymous SNV V74I 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 0.028 61246 chr14 94528727 94528727 T C rs199917054 DDX24 Nonsynonymous SNV K320R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.425 61247 chr14 74433689 74433689 G A rs149673221 ENTPD5 Nonsynonymous SNV T410M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.4 61248 chr14 70489920 70489920 G T rs146934835 SMOC1 Nonsynonymous SNV R349S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 21.8 61249 chr2 239050070 239050070 C T rs186644946 KLHL30 Synonymous SNV D225D 0.007 0.008 0 0 8 3 0 0 0 0 0 0 5.131 61250 chr2 23914569 23914569 G A rs184843294 KLHL29 Nonsynonymous SNV G369S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.769 61251 chr11 3141744 3141744 C T rs34950527 OSBPL5 Synonymous SNV L171L 0.082 0.089 0.112 31 96 34 0.079 33 0 1 3 1 13.71 61252 chr3 126194463 126194463 C T ZXDC Synonymous SNV P82P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.57 61253 chr11 315073 315073 A G rs199539158 IFITM1 Nonsynonymous SNV H113R 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 0.955 61254 chr14 71570366 71570366 C T rs113361961 PCNX1 Synonymous SNV F1914F 0.007 0.005 0.003 2 8 2 0.005 1 1 0 0 0 Likely benign 13.5 61255 chr14 72090809 72090809 G A rs113082664 SIPA1L1 Synonymous SNV S558S 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Benign 11.86 61256 chr14 73137882 73137882 G A rs202093453 DPF3 Nonsynonymous SNV R401W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.4 61257 chr2 24042689 24042689 T C rs62125899 ATAD2B Nonsynonymous SNV N732S 0.025 0.031 0.024 8 29 12 0.021 7 3 1 0 0 0.35 61258 chr14 95028084 95028084 G T rs764301319 SERPINA4 Nonsynonymous SNV G11V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.55 61259 chr14 95029945 95029945 A G SERPINA4 Synonymous SNV T79T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.016 61260 chr14 95053861 95053861 G A SERPINA5 Synonymous SNV R54R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.756 61261 chr13 24868919 24868919 T C rs35793500 SPATA13 Synonymous SNV N276N 0.037 0.047 0.048 9 43 18 0.023 14 1 0 1 0 3.027 61262 chr11 33211922 33211922 A G rs7929507 CSTF3-DT 0 0 0.027 0 0 0 0 8 0 0 4 0 11.66 61263 chr3 138665029 138665029 G C rs7432551 FOXL2 Nonsynonymous SNV A179G 0.029 0.021 0.037 15 34 8 0.038 11 0 0 1 0 Benign 23.1 61264 chr14 96178688 96178688 C T rs17093294 TCL1A Nonsynonymous SNV V56I 0.011 0.013 0.003 7 13 5 0.018 1 0 0 0 0 0.457 61265 chr3 138665064 138665064 G A rs61750361 FOXL2 Synonymous SNV F167F 0.031 0.026 0.037 17 36 10 0.044 11 0 0 1 0 Benign 14.83 61266 chr3 139297857 139297857 G A rs79043406 NMNAT3 Synonymous SNV N50N 0.014 0.01 0.01 4 16 4 0.01 3 0 0 0 0 11.07 61267 chr2 241865199 241865199 A - CROCC2 K183Rfs*13 0.002 0 0 0 2 0 0 0 0 0 0 0 61268 chr2 220500412 220500412 G A rs55910611 SLC4A3 Nonsynonymous SNV G691R 0.006 0.013 0 5 7 5 0.013 0 0 0 0 0 21.8 61269 chr2 242054718 242054718 G A rs61748659 PASK Synonymous SNV H1061H 0.027 0.047 0.031 5 32 18 0.013 9 0 0 0 0 1.539 61270 chr14 75142606 75142606 G A rs35864766 AREL1 Synonymous SNV G292G 0.031 0.042 0.054 28 36 16 0.072 16 1 0 1 3 13.44 61271 chr2 220502900 220502900 C A rs34173245 SLC4A3 Synonymous SNV I954I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 22.6 61272 chr14 75416238 75416238 A T PGF Nonsynonymous SNV V46E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 61273 chr2 73450631 73450631 T C rs140748262 SMYD5 Nonsynonymous SNV I285T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 61274 chr3 130293232 130293232 T C rs200274210 COL6A6 Nonsynonymous SNV I1137T 0.021 0.029 0.003 7 25 11 0.018 1 0 0 0 0 25.5 61275 chr2 227729713 227729713 A C rs35800367 RHBDD1 Synonymous SNV R102R 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 0.25 61276 chr2 227729737 227729737 G A rs35731955 RHBDD1 Nonsynonymous SNV A110T 0.008 0.003 0.003 5 9 1 0.013 1 0 0 0 0 8.515 61277 chr2 227729791 227729791 G A rs35327472 RHBDD1 Nonsynonymous SNV E128K 0.003 0 0 5 4 0 0.013 0 0 0 0 0 21.9 61278 chr11 43919411 43919411 A G rs11037720 SEC14L1P1 0 0 0.224 0 0 0 0 66 0 0 7 0 0.775 61279 chr3 132213034 132213034 A G rs61748101 DNAJC13 Nonsynonymous SNV E1291G 0.007 0.01 0 10 8 4 0.026 0 0 0 0 1 Conflicting interpretations of pathogenicity 28.8 61280 chr2 227895261 227895261 G C rs34728338 COL4A4 Nonsynonymous SNV P1291A 0.003 0 0 5 4 0 0.013 0 0 0 0 0 Benign/Likely benign 14.33 61281 chr3 126157255 126157255 A T rs191515346 ZXDC Nonsynonymous SNV F847Y 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 17.73 61282 chr14 77718238 77718238 C T rs61752542 TMEM63C Synonymous SNV Y715Y 0.022 0.013 0.027 11 26 5 0.028 8 0 0 0 0 6.414 61283 chr2 227945181 227945181 T C rs35998949 COL4A4 Nonsynonymous SNV E594G 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 Benign/Likely benign 20.6 61284 chr13 32972626 32972626 A T rs11571833 BRCA2 Stop gain K3326X 0.014 0.021 0.01 3 17 8 0.008 3 0 1 0 0 Benign 38 61285 chr2 228118867 228118867 G A rs80109666 COL4A3 Nonsynonymous SNV E269K 0.012 0.01 0.017 8 14 4 0.021 5 0 0 0 1 Benign/Likely benign 0.007 61286 chr2 24980955 24980955 A G rs150066931 NCOA1 Nonsynonymous SNV N1332S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.3 61287 chr11 4470939 4470939 C T rs11032296 OR52K2 Nonsynonymous SNV R124C 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 23.4 61288 chr2 228195563 228195563 - AAATAATGAAGATGTTTCATTTTCAAGACCAGCAGATCTTGACCT rs749103517 MFF 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 61289 chr2 228230836 228230836 T C rs80305648 TM4SF20 Nonsynonymous SNV N125S 0.012 0.01 0.014 8 14 4 0.021 4 0 0 0 1 0.001 61290 chr14 90769116 90769116 G A rs571338345 NRDE2 Synonymous SNV D453D 0 0 0 2 0 0 0.005 0 0 0 0 0 6.476 61291 chr2 228563493 228563493 G A SLC19A3 Nonsynonymous SNV S313F 0.004 0 0 5 5 0 0.013 0 0 0 0 0 8.265 61292 chr11 45924551 45924551 C T rs61731887 MAPK8IP1 Synonymous SNV T411T 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 14.23 61293 chr14 91739122 91739122 C T rs200816634 CCDC88C Synonymous SNV P1978P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Likely benign 13.17 61294 chr11 4615949 4615949 G A rs200573064 OR52I1 Synonymous SNV R227R 0.008 0.016 0.017 6 9 6 0.015 5 0 0 0 0 3.754 61295 chr11 46329489 46329489 G A rs199951144 CREB3L1 Nonsynonymous SNV A152T 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 3.186 61296 chr3 12858092 12858092 C T rs369765807 CAND2 Nonsynonymous SNV P461L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27.6 61297 chr13 39586241 39586241 C T rs41286141 PROSER1 Synonymous SNV A875A 0.026 0.016 0.02 5 31 6 0.013 6 0 1 0 0 13.99 61298 chr13 39608335 39608335 - A rs768981793 PROSER1 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 61299 chr14 92470716 92470716 T G rs41301481 TRIP11 Nonsynonymous SNV N1201H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.95 61300 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*70 0.039 0.065 0.017 30 46 25 0.077 5 2 0 0 0 61301 chr11 46917501 46917501 G A rs118009068 LRP4 Nonsynonymous SNV R373W 0.021 0.013 0.024 10 25 5 0.026 7 0 0 0 0 Benign/Likely benign 33 61302 chr14 105268522 105268522 G A rs948929093 ZBTB42 Nonsynonymous SNV D330N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.05 61303 chr14 93263982 93263982 C G rs17128572 GOLGA5 Nonsynonymous SNV A67G 0.039 0.018 0.024 13 46 7 0.033 7 1 0 0 1 24.5 61304 chr14 93275841 93275841 A G rs17128583 GOLGA5 Synonymous SNV E323E 0.039 0.018 0.041 13 46 7 0.033 12 1 0 0 1 7.938 61305 chr14 105353405 105353405 G A rs45563833 CEP170B Synonymous SNV P873P 0.016 0.008 0.017 7 19 3 0.018 5 0 0 0 0 0.202 61306 chr14 93712317 93712317 G A rs143877217 BTBD7 Nonsynonymous SNV P462S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 13.97 61307 chr14 105360127 105360127 G A rs61731617 CEP170B Synonymous SNV P1369P 0.021 0.008 0.024 7 25 3 0.018 7 0 0 0 0 16.08 61308 chr3 129308209 129308209 G A rs2285373 PLXND1 Synonymous SNV N491N 0.098 0.109 0.034 36 115 42 0.092 10 6 3 0 0 0.222 61309 chr2 233345861 233345861 G A rs61731716 ECEL1 Synonymous SNV N663N 0.012 0.008 0.007 2 14 3 0.005 2 0 0 0 0 Benign 7.992 61310 chr14 91805665 91805665 G A rs183742506 CCDC88C Synonymous SNV L256L 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 Benign/Likely benign 12.26 61311 chr13 46594619 46594619 T C rs41284155 ZC3H13 Nonsynonymous SNV E138G 0.031 0.018 0.01 9 36 7 0.023 3 1 0 0 1 24.5 61312 chr2 234229302 234229302 C T rs777934036 SAG Nonsynonymous SNV R70C 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Uncertain significance 35 61313 chr3 141163074 141163074 C T rs17787670 ZBTB38 Nonsynonymous SNV T615M 0.016 0.01 0.02 6 19 4 0.015 6 0 0 0 0 14.26 61314 chr3 130300680 130300680 C T COL6A6 Nonsynonymous SNV L1275F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 61315 chr13 47409149 47409149 T A rs35224115 HTR2A Synonymous SNV T329T 0.008 0.016 0.007 1 9 6 0.003 2 0 0 0 0 9.325 61316 chr13 47409434 47409434 C T rs146528709 HTR2A Synonymous SNV E234E 0.008 0.016 0.007 1 9 6 0.003 2 0 0 0 0 10.79 61317 chr3 132211285 132211285 C T rs61748100 DNAJC13 Synonymous SNV A1217A 0.02 0.013 0.017 4 24 5 0.01 5 1 0 0 0 16.55 61318 chr3 132435622 132435622 G A rs773343458 NPHP3 Nonsynonymous SNV P268S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 61319 chr15 28171294 28171294 T G rs1800416 OCA2 Synonymous SNV A662A 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 Benign 9.324 61320 chr3 17520888 17520888 C T rs7628126 TBC1D5 0.012 0.018 0 5 14 7 0.013 0 0 0 0 1 2.816 61321 chr3 178748707 178748707 G A rs149985781 ZMAT3 Synonymous SNV V117V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.082 61322 chr3 133667799 133667799 G A SLCO2A1 Nonsynonymous SNV A293V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.1 61323 chr14 94844885 94844885 G A rs143329723 SERPINA1 Synonymous SNV P386P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 4.875 61324 chr14 97018927 97018927 C T rs149879119 PAPOLA Synonymous SNV T294T 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign 15.15 61325 chr2 237032566 237032566 G A rs150946814 AGAP1 Nonsynonymous SNV G739R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.2 61326 chr2 3447577 3447577 T C rs150167013 TRAPPC12 Nonsynonymous SNV I482T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.3 61327 chr2 3518619 3518619 G A rs534346788 ADI1 Nonsynonymous SNV S21L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.393 61328 chr2 98375485 98375485 C T rs11674151 TMEM131 Synonymous SNV S1746S 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 15.7 61329 chr2 37230728 37230728 T C rs1007823 HEATR5B Synonymous SNV V1669V 0.085 0.094 0.092 33 100 36 0.085 27 3 0 1 1 10.11 61330 chr3 13546167 13546167 C A rs148470263 HDAC11 Nonsynonymous SNV P264H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Likely benign 25.9 61331 chr3 135720539 135720539 G A rs57374999 PPP2R3A Nonsynonymous SNV D67N 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 18.5 61332 chr2 37336403 37336403 G C rs2307469 EIF2AK2 Synonymous SNV L430L 0.031 0.026 0.061 16 36 10 0.041 18 2 0 0 0 10.94 61333 chr2 238296761 238296761 G A rs149924028 COL6A3 Nonsynonymous SNV A53V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 61334 chr3 135721469 135721469 T G rs140301479 PPP2R3A Nonsynonymous SNV L377V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 4.817 61335 chr3 13612786 13612786 G A rs111389908 FBLN2 Nonsynonymous SNV A311T 0.006 0.008 0.014 6 7 3 0.015 4 0 0 0 0 Benign 9.609 61336 chr14 96730740 96730740 G A rs45528332 BDKRB1 Nonsynonymous SNV G241R 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 21.5 61337 chr13 76101979 76101979 G A rs77512031 COMMD6 Synonymous SNV L72L 0.052 0.047 0.092 25 61 18 0.064 27 1 2 1 0 0.723 61338 chr3 152553628 152553628 C T rs1065776 P2RY1 Synonymous SNV A19A 0.037 0.034 0.034 15 43 13 0.038 10 1 1 0 0 12.56 61339 chr14 101351011 101351011 T G rs186046088 RTL1 Nonsynonymous SNV S39R 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 Likely benign 2.585 61340 chr13 76395620 76395620 C T rs9593132 LMO7 Nonsynonymous SNV R512C 0.089 0.086 0.051 23 104 33 0.059 15 8 3 0 0 34 61341 chr3 156192587 156192587 G A rs143939458 KCNAB1 Synonymous SNV P201P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.07 61342 chr13 92345964 92345964 G A rs147274494 GPC5 Synonymous SNV A283A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.77 61343 chr13 95858921 95858921 G A rs778747419 ABCC4 Synonymous SNV L267L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.458 61344 chr2 43451739 43451739 - CTGCTG rs556928050 ZFP36L2 Q401_G402insQQ 0.008 0.016 0.003 7 9 6 0.018 1 0 0 0 0 61345 chr2 239072916 239072916 G A rs139530631 ERFE Nonsynonymous SNV G268R 0.051 0.044 0.037 23 60 17 0.059 11 2 0 0 1 7.578 61346 chr15 40633036 40633036 C T rs367890530 CCDC9B Synonymous SNV S39S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.39 61347 chr2 239165633 239165633 C T rs2304671 PER2 Synonymous SNV S665S 0.06 0.044 0.044 23 71 17 0.059 13 1 0 0 1 16.42 61348 chr2 43571347 43571347 G A rs35422033 THADA Synonymous SNV D1419D 0.01 0.023 0.007 4 12 9 0.01 2 0 1 0 0 8.136 61349 chr2 43805674 43805674 G A rs563970271 THADA Nonsynonymous SNV P265L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 61350 chr2 239307411 239307411 G A rs199907968 TRAF3IP1 Nonsynonymous SNV V577M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 61351 chr11 490035 490035 C T rs61742833 PTDSS2 Nonsynonymous SNV A214V 0.076 0.094 0.092 41 89 36 0.105 27 3 4 0 1 22.4 61352 chr13 99461668 99461668 C T DOCK9 Nonsynonymous SNV E1750K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 61353 chr3 186338540 186338540 T C rs35799453 AHSG Synonymous SNV L281L 0.025 0.016 0.024 5 29 6 0.013 7 0 1 0 0 0.002 61354 chr11 502130 502144 CTGGATGTCCAGGCT - rs71022920 RNH1 S7_Q11del 0.083 0.091 0.109 43 97 35 0.11 32 3 4 0 1 61355 chr14 104166994 104166994 C T rs3212102 KLC1 Nonsynonymous SNV A595V 0.012 0.003 0.017 3 14 1 0.008 5 0 0 0 0 14.11 61356 chr15 40914279 40914279 A G rs371943910 KNL1 Nonsynonymous SNV K606R 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Uncertain significance 9.529 61357 chr13 99948097 99948097 A G rs2230343 GPR183 Synonymous SNV D101D 0.053 0.052 0.044 14 62 20 0.036 13 2 0 0 0 0.103 61358 chr3 143691672 143691672 C T rs151261436 DIPK2A Synonymous SNV D166D 0.017 0.003 0.01 9 20 1 0.023 3 1 0 0 0 11.06 61359 chr2 45169333 45169333 G T rs78018362 SIX3 Synonymous SNV A30A 0.042 0.044 0.01 15 49 17 0.038 3 2 1 0 0 Benign 12.86 61360 chr2 45169795 45169795 A G rs200844888 SIX3 Synonymous SNV P184P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.495 61361 chr3 14770044 14770044 A G rs749410699 C3orf20 Nonsynonymous SNV S475G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.52 61362 chr2 242148763 242148763 G A rs144537389 ANO7 Nonsynonymous SNV V381M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 61363 chr2 48822365 48822365 A C STON1 0.002 0 0 0 2 0 0 0 0 0 0 0 24 61364 chr2 48896897 48896897 A G rs33987892 GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV T305A 0.02 0.008 0.003 8 24 3 0.021 1 1 0 0 0 0.097 61365 chr13 103395769 103395769 G C rs117896704 CCDC168 Synonymous SNV T2426T 0.019 0.01 0.02 3 22 4 0.008 6 0 0 0 0 2.578 61366 chr3 187443314 187443314 G A rs61732778 BCL6 Synonymous SNV C548C 0.07 0.102 0.082 41 82 39 0.105 24 4 1 1 1 13.66 61367 chr3 150384801 150384801 C A rs79104645 ERICH6 Nonsynonymous SNV V355L 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 24.5 61368 chr3 190322002 190322002 T C rs146492458 IL1RAP Synonymous SNV F50F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 4.68 61369 chr3 192973579 192973579 G A rs116653160 PLAAT1 0.003 0.008 0 0 3 3 0 0 0 0 0 0 26.7 61370 chr3 193036783 193036783 G A rs73888252 ATP13A5 Nonsynonymous SNV A677V 0.086 0.089 0.065 31 101 34 0.079 19 10 1 1 0 15.26 61371 chr3 151163316 151163316 C G IGSF10 Nonsynonymous SNV A1485P 0.007 0.008 0 0 8 3 0 0 0 0 0 0 6.482 61372 chr3 172428724 172428724 A G rs761392975 NCEH1 Synonymous SNV Y17Y 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.016 61373 chr3 193183946 193183946 A G rs549370932 ATP13A4 Synonymous SNV L380L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.54 61374 chr15 22867569 22867569 G A rs202246817 TUBGCP5 Nonsynonymous SNV R882H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 61375 chr3 193272445 193272456 GTGTGTGTGTGT - ATP13A4-AS1 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 61376 chr3 154033066 154033066 G A rs71308484 DHX36 Synonymous SNV Y124Y 0.034 0.036 0.027 19 40 14 0.049 8 2 0 0 0 2.771 61377 chr15 42289325 42289325 G A rs111816863 PLA2G4E Synonymous SNV D369D 0.006 0.01 0.01 8 7 4 0.021 3 0 0 0 0 1.482 61378 chr15 42360938 42360938 G A rs370314190 PLA2G4D Nonsynonymous SNV A811V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.103 61379 chr15 25953198 25953198 C T rs17555920 ATP10A Nonsynonymous SNV E834K 0.018 0.005 0.017 2 21 2 0.005 5 0 0 0 0 25 61380 chr15 27193125 27193125 A G rs2229942 GABRA5 Synonymous SNV T378T 0.016 0.008 0.02 18 19 3 0.046 6 0 0 0 1 0.002 61381 chr3 119256119 119256119 C T rs755620230 CD80 Nonsynonymous SNV V189I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.717 61382 chr3 156983375 156983375 C T rs75175345 VEPH1 Synonymous SNV R690R 0.015 0.016 0.031 11 18 6 0.028 9 0 0 1 0 18.04 61383 chr13 111138182 111138182 G A rs200275883 COL4A2 Nonsynonymous SNV R1069Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 61384 chr15 42652186 42652186 C T rs146069933 CAPN3 Synonymous SNV F61F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.62 61385 chr15 42720268 42720268 C T rs149732932 ZNF106 Nonsynonymous SNV R811Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 61386 chr3 160155866 160155869 AGAG - rs557840155 TRIM59 S368Yfs*14 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 61387 chr3 183056598 183056598 G A rs12632177 MCF2L2 Nonsynonymous SNV T159M 0.051 0.047 0.051 25 60 18 0.064 15 1 1 1 0 0.008 61388 chr3 160942809 160942809 A G rs1038610293 NMD3 Nonsynonymous SNV I46V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.96 61389 chr15 30012910 30012910 C T rs147136553 TJP1 Synonymous SNV A805A 0.009 0.016 0.02 8 11 6 0.021 6 0 0 0 0 13.61 61390 chr13 113140348 113140348 C G rs540629621 TUBGCP3 Nonsynonymous SNV V885L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 10.75 61391 chr15 31233731 31233731 T C rs186418869 MTMR10 Nonsynonymous SNV K759R 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 24.4 61392 chr13 113765158 113765158 G A rs36208758 F7 Synonymous SNV E73E 0.014 0.013 0.014 5 16 5 0.013 4 0 0 0 0 Benign 6.288 61393 chr11 558713 558713 C T rs148047813 LMNTD2 Nonsynonymous SNV R71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 61394 chr15 45444133 45444133 T C rs16939752 DUOX1 Nonsynonymous SNV C1026R 0.134 0.161 0.153 64 157 62 0.164 45 10 6 1 7 15.44 61395 chr2 27719780 27719780 C T rs147430554 GCKR Synonymous SNV G3G 0.001 0.008 0.007 3 1 3 0.008 2 0 0 0 0 5.98 61396 chr13 114469112 114469112 C T rs146258632 TMEM255B Nonsynonymous SNV T24M 0.006 0.005 0 0 7 2 0 0 0 0 0 0 23.5 61397 chr3 167035332 167035332 T C rs34465133 ZBBX Nonsynonymous SNV H346R 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 0.008 61398 chr3 122255004 122255004 T C rs370408322 PARP9 Synonymous SNV Q697Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.046 61399 chr3 172046841 172046841 G T rs35409041 FNDC3B Nonsynonymous SNV A452S 0.013 0.008 0.007 15 15 3 0.038 2 0 0 0 0 22.5 61400 chr3 20212227 20212227 C T rs77194360 SGO1 Nonsynonymous SNV R249H 0.036 0.029 0.017 7 42 11 0.018 5 1 0 0 0 11.12 61401 chr15 38746370 38746370 G A rs149112827 FAM98B Nonsynonymous SNV G3E 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 22 61402 chr3 23942527 23942527 G A rs201045582 NKIRAS1 Synonymous SNV C36C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.73 61403 chr3 186364113 186364113 G C FETUB Nonsynonymous SNV C159S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 61404 chr3 17349498 17349498 T C rs79960281 TBC1D5 Nonsynonymous SNV Y239C 0.027 0.023 0.024 15 32 9 0.038 7 0 0 1 0 27.3 61405 chr15 52553112 52553112 C T rs761246521 MYO5C Synonymous SNV A420A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.56 61406 chr2 73477527 73477527 C T rs2231437 CCT7 Synonymous SNV S184S 0.059 0.063 0.051 16 69 24 0.041 15 4 1 0 0 19.63 61407 chr14 20822308 20822308 A G rs3093921 PARP2 Nonsynonymous SNV D222G 0.015 0.021 0.01 7 18 8 0.018 3 0 0 1 0 26.4 61408 chr14 20851756 20851756 T C rs74369960 TEP1 Nonsynonymous SNV E1145G 0.016 0.021 0.01 7 19 8 0.018 3 0 0 1 0 18.54 61409 chr2 33482568 33482568 G A LTBP1 Synonymous SNV A469A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.39 61410 chr15 40656150 40656150 C T rs769496877 DISP2 Synonymous SNV S148S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.18 61411 chr3 183225982 183225982 G A rs150275293 KLHL6 Synonymous SNV L258L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.233 61412 chr2 3691324 3691324 C T rs141691492 COLEC11 Synonymous SNV A70A 0.019 0.01 0.01 5 22 4 0.013 3 0 0 0 0 Benign 5.445 61413 chr3 33109765 33109765 C T GLB1 Stop gain W138X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 61414 chr3 183245793 183245793 A G KLHL6 Nonsynonymous SNV M100T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 61415 chr2 73800404 73800404 C T ALMS1 Synonymous SNV C3799C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.507 61416 chr3 183753872 183753872 G A rs188854019 HTR3D Nonsynonymous SNV V61I 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 0.002 61417 chr14 21460770 21460770 G T rs72661115 METTL17 Nonsynonymous SNV A173S 0.009 0.013 0.003 1 11 5 0.003 1 0 0 0 0 28.8 61418 chr3 38038982 38038982 T C rs6809649 VILL Synonymous SNV A20A 0.172 0.159 0.16 68 202 61 0.174 47 20 5 4 2 0.309 61419 chr3 38040537 38040537 G A rs199499422 VILL Synonymous SNV G156G 0.013 0.018 0.007 6 15 7 0.015 2 0 0 0 0 3.242 61420 chr3 183778075 183778075 T C rs142232052 HTR3C Nonsynonymous SNV F427L 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 23.6 61421 chr3 38047954 38047954 G C rs9816693 VILL Nonsynonymous SNV L537F 0.17 0.159 0.156 68 200 61 0.174 46 19 5 4 2 5.676 61422 chr2 75879359 75879359 G A rs41382847 MRPL19 Nonsynonymous SNV V105I 0.018 0.016 0.014 7 21 6 0.018 4 0 1 0 0 12.58 61423 chr15 41227149 41227149 T C rs28568593 DLL4 Synonymous SNV H358H 0.014 0.013 0.01 11 16 5 0.028 3 0 0 0 0 Benign 0.097 61424 chr3 38061692 38061692 C T rs73825466 PLCD1 Synonymous SNV P83P 0.013 0.016 0.003 2 15 6 0.005 1 0 0 0 0 11.95 61425 chr2 38537579 38537579 T C rs34873284 ATL2 Nonsynonymous SNV N101S 0.026 0.021 0.037 13 31 8 0.033 11 1 0 0 0 16.7 61426 chr15 41663884 41663884 - A rs745504415 NUSAP1 0.009 0.003 0.01 3 10 1 0.008 3 0 0 0 0 61427 chr2 80530453 80530453 G A LRRTM1 Synonymous SNV T164T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.054 61428 chr3 127872469 127872469 C A rs76829052 EEFSEC Nonsynonymous SNV P40Q 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 33 61429 chr15 42145585 42145585 C T rs187263353 SPTBN5 Synonymous SNV A3347A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.39 61430 chr3 195456545 195456545 C T rs11923495 MUC20 Nonsynonymous SNV R666W 0.027 0.023 0.017 14 32 9 0.036 5 0 0 0 0 23.7 61431 chr3 39142562 39142562 G A rs61743223 GORASP1 Nonsynonymous SNV A32V 0.005 0.005 0.014 4 6 2 0.01 4 0 0 0 0 26.5 61432 chr15 42160683 42160683 C T rs375029179 SPTBN5 Synonymous SNV A1990A 0.001 0 0 6 1 0 0.015 0 0 0 0 0 11.83 61433 chr14 23282336 23282336 G A rs11568438 SLC7A7 Nonsynonymous SNV A91V 0.018 0.018 0.01 4 21 7 0.01 3 0 0 0 0 Benign 32 61434 chr3 130104153 130104153 G A rs149308947 COL6A5 Nonsynonymous SNV D603N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 61435 chr15 65110217 65110217 G A rs148690720 PIF1 Synonymous SNV T534T 0.013 0.008 0.01 2 15 3 0.005 3 0 0 0 0 8.823 61436 chr15 42439874 42439874 G A rs79092213 PLA2G4F Synonymous SNV L382L 0.017 0.018 0.017 1 20 7 0.003 5 0 0 0 0 12.68 61437 chr11 575408 575408 C G rs56333810 LOC143666 0 0 0.299 0 0 0 0 88 0 0 11 0 8.711 61438 chr14 23450548 23450548 C G rs117656327 AJUBA Nonsynonymous SNV E310Q 0.055 0.036 0.041 24 64 14 0.062 12 3 0 1 0 22.7 61439 chr15 42743265 42743265 A G rs137908783 ZNF106 Nonsynonymous SNV L379P 0.008 0.008 0 0 9 3 0 0 0 0 0 0 7.254 61440 chr15 43653966 43653967 CT - ZSCAN29 G626Kfs*11 0.003 0 0 1 4 0 0.003 0 0 0 0 0 61441 chr3 19575232 19575232 C T rs34561654 KCNH8 Nonsynonymous SNV P989S 0.014 0.026 0.014 6 17 10 0.015 4 0 0 0 0 7.131 61442 chr3 40553904 40553904 A G rs779976616 ZNF620 Nonsynonymous SNV T55A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.293 61443 chr3 41723090 41723090 C T rs188590896 ULK4 Nonsynonymous SNV V661M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 24.3 61444 chr3 41831290 41831290 C T rs77615850 ULK4 Nonsynonymous SNV V384I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 22.8 61445 chr2 54001292 54001292 G C CHAC2 Nonsynonymous SNV G62A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 61446 chr3 130368089 130368089 A T rs766344785 COL6A6 Nonsynonymous SNV N1806Y 0.002 0 0 0 2 0 0 0 0 0 0 0 18.72 61447 chr15 43654127 43654127 C A rs142581706 ZSCAN29 Nonsynonymous SNV G568V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 61448 chr15 43658846 43658846 T G rs144725049 ZSCAN29 Nonsynonymous SNV R228S 0 0 0.003 6 0 0 0.015 1 0 0 0 0 0.864 61449 chr11 58207036 58207036 T - rs201567144 OR5B12 I197Ffs*15 0.032 0.016 0.01 9 38 6 0.023 3 1 0 0 1 61450 chr15 45491082 45491082 G A rs80131405 SHF Nonsynonymous SNV S64L 0.052 0.052 0.065 21 61 20 0.054 19 2 0 0 0 19.3 61451 chr15 44856750 44856750 G A rs747227352 SPG11 Synonymous SNV S2269S 0 0 0 6 0 0 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.46 61452 chr15 66857095 66857095 G A rs76150906 LCTL Synonymous SNV D67D 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 Benign 11.67 61453 chr15 45561710 45561710 G C rs116547844 SLC28A2 Nonsynonymous SNV E515Q 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 9.509 61454 chr2 97482236 97482236 C T CNNM3 Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.492 61455 chr2 97508139 97508139 C T rs143372458 ANKRD23 Nonsynonymous SNV R46Q 0.02 0.023 0.003 6 23 9 0.015 1 0 0 0 0 5.843 61456 chr3 133376750 133376750 T C rs200912205 TOPBP1 Nonsynonymous SNV I85M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.1 61457 chr3 193272443 193272450 GTGTGTGT - rs879083326 ATP13A4-AS1 0.045 0.057 0 32 53 22 0.082 0 0 0 0 1 61458 chr15 48060915 48060915 T A rs770963209 SEMA6D Nonsynonymous SNV F635I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.6 61459 chr3 194061955 194061955 C T rs111646477 CPN2 Nonsynonymous SNV A493T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 24.5 61460 chr2 64778662 64778662 T C rs35894006 AFTPH Synonymous SNV N18N 0.026 0.023 0.02 20 30 9 0.051 6 0 1 0 1 0.036 61461 chr11 59516411 59516411 G T rs11230067 OR10V2P 0 0 0.065 0 0 0 0 19 0 0 0 0 0.014 61462 chr3 32409409 32409409 G A rs778580928 CMTM8 Nonsynonymous SNV A65T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 61463 chr3 100595368 100595368 T C ABI3BP Nonsynonymous SNV I252V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.402 61464 chr3 195515550 195515550 G C rs59408218 MUC4 Synonymous SNV T967T 0.02 0.013 0.034 9 24 5 0.023 10 0 0 0 0 0.065 61465 chr3 137843709 137843709 G A rs151221028 A4GNT Synonymous SNV S140S 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 7.58 61466 chr14 25101166 25101166 T G GZMB Synonymous SNV T154T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.022 61467 chr3 138153731 138153731 C T ESYT3 Synonymous SNV L31L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.97 61468 chr3 196050728 196050728 T C rs146878860 TM4SF19 Nonsynonymous SNV N171S 0.036 0.031 0.017 7 42 12 0.018 5 1 0 0 0 22.4 61469 chr3 37458785 37458785 T C C3orf35 Nonsynonymous SNV C10R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 61470 chr15 51041909 51041909 C T rs145832874 SPPL2A Nonsynonymous SNV G34E 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 22 61471 chr3 196388023 196388023 C G rs62636585 NRROS Synonymous SNV L503L 0.014 0.018 0.007 7 17 7 0.018 2 1 0 0 0 0.171 61472 chr3 38316922 38316922 C G rs748821782 SLC22A13 Nonsynonymous SNV L290V 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.002 61473 chr15 55710744 55710744 T C C15orf65 Synonymous SNV F114F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.452 61474 chr3 196807928 196807928 A C rs35430440 DLG1 Nonsynonymous SNV D550E 0.02 0.016 0.007 4 24 6 0.01 2 0 0 0 0 Benign 15.73 61475 chr3 14199940 14199940 C A rs182616621 XPC Nonsynonymous SNV K288N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 23.2 61476 chr14 34398305 34398305 T C rs45570637 EGLN3 Synonymous SNV E103E 0.026 0.018 0.007 15 31 7 0.038 2 0 0 0 1 Benign 8.636 61477 chr3 110853057 110853057 G A rs143220633 NECTIN3 Nonsynonymous SNV V549I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 61478 chr3 111356092 111356092 A G rs34636484 CD96 Synonymous SNV A457A 0.027 0.026 0.031 8 32 10 0.021 9 1 0 0 0 Likely benign 1.024 61479 chr3 4732914 4732914 C T rs923372943 ITPR1 Synonymous SNV F1290F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 61480 chr3 38888227 38888227 C T rs4640498 SCN11A Synonymous SNV L1778L 0.016 0.013 0.01 4 19 5 0.01 3 0 0 0 0 Benign 8.418 61481 chr3 38888735 38888735 G A rs72869687 SCN11A Nonsynonymous SNV T1609I 0.016 0.013 0.01 4 19 5 0.01 3 0 0 0 0 Benign 8.7 61482 chr14 38061513 38061513 - CGTCGC FOXA1 D158_A159insGD 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 61483 chr3 38908944 38908944 T C rs148945365 SCN11A Synonymous SNV E1273E 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 Benign 0.026 61484 chr3 111927110 111927110 G C rs776872549 SLC9C1 Nonsynonymous SNV S586C 0.002 0 0 0 2 0 0 0 0 0 0 0 23 61485 chr3 39139776 39139776 G A rs1109643 GORASP1 Nonsynonymous SNV T270M 0.017 0.013 0.01 4 20 5 0.01 3 0 0 0 0 0.369 61486 chr15 78917316 78917316 C T rs55952530 CHRNB4 Nonsynonymous SNV G226D 0.022 0.023 0.044 14 26 9 0.036 13 1 0 2 0 17.63 61487 chr11 61253294 61253294 G A rs148713373 PPP1R32 Nonsynonymous SNV G200S 0.001 0.01 0.007 0 1 4 0 2 0 0 0 0 23.9 61488 chr3 39180219 39180219 C T rs2293313 TTC21A Synonymous SNV P1253P 0.017 0.013 0.01 4 20 5 0.01 3 0 0 0 0 17.85 61489 chr15 59417010 59417010 C T rs61751104 CCNB2 Synonymous SNV S377S 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 14.75 61490 chr3 39229044 39229044 C T rs11129816 XIRP1 Synonymous SNV K631K 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 8.579 61491 chr11 61669964 61669964 G A rs370497170 RAB3IL1 Nonsynonymous SNV L291F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 61492 chr3 39230610 39230610 G A rs80147433 XIRP1 Synonymous SNV H109H 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 0.017 61493 chr3 48623124 48623124 G A rs35761247 COL7A1 Nonsynonymous SNV P1277L 0.032 0.029 0.02 12 38 11 0.031 6 1 0 0 1 Benign 25.6 61494 chr3 33135592 33135592 T C rs61749982 TMPPE Synonymous SNV A32A 0.021 0.01 0.027 14 25 4 0.036 8 0 0 0 0 0.005 61495 chr15 62939599 62939599 G A rs753666948 TLN2 Synonymous SNV A30A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.661 61496 chr3 49138810 49138810 T C rs11539148 QARS1 Nonsynonymous SNV N274S 0.024 0.039 0.02 9 28 15 0.023 6 0 0 0 0 Benign 14.5 61497 chr3 112724661 112724661 T C rs3732813 NEPRO Nonsynonymous SNV T309A 0.007 0 0 0 8 0 0 0 0 0 0 0 21.2 61498 chr3 33414815 33414815 G A rs199990568 FBXL2 Synonymous SNV V57V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.92 61499 chr3 112727199 112727199 G A rs2306858 NEPRO Nonsynonymous SNV P185S 0.007 0 0 0 8 0 0 0 0 0 0 0 0.067 61500 chr3 35756952 35756952 C G rs74492876 ARPP21 Nonsynonymous SNV L273V 0.02 0.01 0.014 8 24 4 0.021 4 0 0 0 0 22.4 61501 chr3 151535273 151535273 C T rs370635119 AADAC Synonymous SNV F86F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.24 61502 chr14 50074673 50074673 G A LRR1 Nonsynonymous SNV A280T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 21.2 61503 chr15 83296073 83296073 C T rs61733713 CPEB1 Nonsynonymous SNV A21T 0.014 0.018 0.003 3 16 7 0.008 1 0 0 0 0 13.9 61504 chr2 74732492 74732492 T G rs72818086 PCGF1 Nonsynonymous SNV I236L 0 0 0 3 0 0 0.008 0 0 0 0 0 15.59 61505 chr3 113251962 113251962 C A rs61738949 SIDT1 Nonsynonymous SNV P32T 0.018 0.031 0.031 6 21 12 0.015 9 0 0 0 0 6.538 61506 chr15 63017183 63017183 A C rs148931336 TLN2 Nonsynonymous SNV E1045D 0.018 0.018 0.02 13 21 7 0.033 6 0 0 0 0 19.95 61507 chr11 62591982 62591982 G A rs145410346 STX5 Synonymous SNV I245I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 61508 chr3 38592019 38592019 G A rs13324293 SCN5A Synonymous SNV I1930I 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Benign/Likely benign 8.77 61509 chr3 38739622 38739622 C T rs77804526 SCN10A Nonsynonymous SNV V1599I 0.015 0.018 0.034 9 18 7 0.023 10 0 1 0 0 Benign 5.435 61510 chr3 155571275 155571275 T C rs3804769 SLC33A1 Nonsynonymous SNV D171G 0.048 0.034 0.061 19 56 13 0.049 18 0 0 1 3 Benign 10.9 61511 chr15 84611680 84611680 C A rs765360814 ADAMTSL3 Nonsynonymous SNV T779N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 61512 chr3 113755502 113755502 T C rs138419795 CCDC191 Nonsynonymous SNV K161E 0.002 0 0 0 2 0 0 0 0 0 0 0 24 61513 chr3 38740001 38740001 C T rs78425180 SCN10A Synonymous SNV T1472T 0.016 0.018 0.034 9 19 7 0.023 10 0 1 0 0 Benign 8.563 61514 chr3 50327725 50327725 A G IFRD2 Synonymous SNV S152S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 61515 chr3 38768334 38768334 T C rs7374804 SCN10A Synonymous SNV K852K 0.054 0.068 0.071 34 63 26 0.087 21 1 0 0 1 Benign 8.387 61516 chr15 64365130 64365133 TCAG - CIAO2A *161delinsSCFKSHWPVIV* 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 61517 chr3 38805069 38805069 T C rs74717885 SCN10A Nonsynonymous SNV I206M 0.015 0.016 0.024 7 18 6 0.018 7 0 0 0 0 Benign 15.03 61518 chr3 158363463 158363463 A G rs35942089 GFM1 Nonsynonymous SNV N43D 0.014 0.01 0.003 4 16 4 0.01 1 0 0 0 0 Benign/Likely benign 16.79 61519 chr3 118621485 118621485 C T IGSF11 Nonsynonymous SNV S393N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.2 61520 chr2 85823724 85823724 A T rs139155037 RNF181 Nonsynonymous SNV T57S 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 0.018 61521 chr2 85852667 85852667 G A rs2304564 USP39 Synonymous SNV V89V 0.014 0.008 0.01 8 16 3 0.021 3 0 0 0 1 12.37 61522 chr15 67073573 67073573 C T rs551875695 SMAD6 Synonymous SNV P397P 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Likely benign 14.24 61523 chr14 52955182 52955182 A G rs761885206 TXNDC16 Nonsynonymous SNV V331A 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 16.2 61524 chr11 63672479 63672479 G A rs151049341 MARK2 Nonsynonymous SNV S579N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.93 61525 chr15 67813968 67813968 C A rs570918226 IQCH-AS1 0.008 0.003 0.003 5 9 1 0.013 1 0 0 0 0 12.61 61526 chr3 52414112 52414112 C T rs73072968 DNAH1 Synonymous SNV S2523S 0.026 0.023 0.017 11 30 9 0.028 5 0 1 0 0 Benign 16.56 61527 chr11 63974966 63974966 G A rs149000560 FERMT3 Nonsynonymous SNV G44R 0.014 0.013 0.01 3 17 5 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 34 61528 chr3 52448051 52448051 G A rs73072983 PHF7 Synonymous SNV P27P 0.042 0.031 0.024 19 49 12 0.049 7 0 1 0 0 11.49 61529 chr14 55369314 55369314 G A rs41298432 GCH1 Nonsynonymous SNV P23L 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 Benign/Likely benign 0.014 61530 chr11 63978534 63978534 C T rs78810429 FERMT3 Synonymous SNV H135H 0.009 0.01 0.007 9 11 4 0.023 2 0 0 0 0 Benign 12.6 61531 chr3 39307832 39307832 T C rs199811198 CX3CR1 Nonsynonymous SNV T57A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Likely benign 1.092 61532 chr11 63994230 63994230 G T rs2286612 NUDT22 Nonsynonymous SNV G36C 0.047 0.036 0.027 14 55 14 0.036 8 3 0 0 0 23.3 61533 chr15 66172040 66172040 G A rs372602014 RAB11A Synonymous SNV S154S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 13.87 61534 chr14 57938245 57938245 A G rs141059426 CCDC198 Nonsynonymous SNV I239T 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 0.001 61535 chr3 119886108 119886108 G C rs147315768 GPR156 Nonsynonymous SNV S735C 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 23 61536 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAAAAA 0.003 0 0 2 4 0 0.005 0 0 0 0 0 61537 chr3 52549450 52549450 G A rs148964293 STAB1 Synonymous SNV R1292R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.235 61538 chr15 66793433 66793433 C T rs143293188 RPL4 Synonymous SNV L229L 0.008 0 0 6 9 0 0.015 0 0 0 0 0 10.57 61539 chr2 88402651 88402651 C A rs61748138 SMYD1 Synonymous SNV S308S 0.023 0.016 0.007 7 27 6 0.018 2 0 0 0 0 13.78 61540 chr14 58910784 58910784 G A rs193056942 KIAA0586 Nonsynonymous SNV R93K 0.009 0.008 0.003 0 10 3 0 1 1 0 0 0 Benign 0.314 61541 chr3 167191539 167191539 G A rs185827542 SERPINI2 Synonymous SNV I2I 0.012 0.013 0.01 6 14 5 0.015 3 1 0 0 0 2.244 61542 chr3 42680000 42680000 C T rs35770315 NKTR Nonsynonymous SNV S935L 0.029 0.042 0.041 7 34 16 0.018 12 1 0 0 0 9.464 61543 chr11 6432517 6432517 C T rs367708086 APBB1 Nonsynonymous SNV A21T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 61544 chr3 42729678 42729678 C T rs773889729 KLHL40 Synonymous SNV P399P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.82 61545 chr3 42777347 42777347 G A rs148765643 CCDC13 Nonsynonymous SNV T408M 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 0.274 61546 chr2 9624643 9624643 C T rs61737635 IAH1 Synonymous SNV D63D 0.015 0.008 0.014 6 18 3 0.015 4 0 0 0 0 16.24 61547 chr15 73076149 73076149 C - rs549074989 ADPGK-AS1 0.003 0 0.003 0 3 0 0 1 0 0 0 0 61548 chr3 52860876 52860876 G A rs143427404 ITIH4 Synonymous SNV L150L 0.014 0.018 0.01 11 17 7 0.028 3 1 0 0 0 Benign 8.91 61549 chr2 97270095 97270095 C T rs34406082 KANSL3 Nonsynonymous SNV V479I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 9.999 61550 chr3 52876853 52876853 C T rs138500617 STIMATE, STIMATE-MUSTN1 Nonsynonymous SNV A248T 0.022 0.021 0.02 13 26 8 0.033 6 1 0 0 0 26.2 61551 chr3 4716811 4716811 A C rs2306877 ITPR1 Synonymous SNV L871L 0.175 0.151 0.156 70 205 58 0.179 46 18 3 2 7 Benign 0.111 61552 chr11 64948277 64948277 A C rs3953797 LOC728975 0 0 0.248 0 0 0 0 73 0 0 13 0 0.003 61553 chr15 89844664 89844664 C T rs138675752 FANCI Synonymous SNV S939S 0.008 0.013 0.003 7 9 5 0.018 1 0 0 0 0 Benign/Likely benign 17.36 61554 chr2 98274698 98274698 T C ACTR1B Nonsynonymous SNV S247G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.4 61555 chr3 44488438 44488438 G T rs140972586 ZNF445 Nonsynonymous SNV H897N 0.01 0.021 0 6 12 8 0.015 0 0 0 0 0 6.182 61556 chr3 44488439 44488439 T A rs151292035 ZNF445 Nonsynonymous SNV R896S 0.01 0.021 0 6 12 8 0.015 0 0 0 0 0 9.39 61557 chr3 47957996 47957996 C G rs2230169 MAP4 Nonsynonymous SNV E441Q 0.035 0.034 0.051 14 41 13 0.036 15 1 0 2 0 24.3 61558 chr3 48040283 48040283 C T rs11711953 MAP4 Nonsynonymous SNV R23Q 0.043 0.052 0.061 20 51 20 0.051 18 1 0 2 1 34 61559 chr11 65271832 65271832 C T rs3200401 MALAT1, TALAM1 0 0 0.228 0 0 0 0 67 0 0 9 0 12.68 61560 chr3 122459434 122459434 T C rs61996313 HSPBAP1 Nonsynonymous SNV I381V 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 0.001 61561 chr3 58092528 58092528 C T rs2140104 FLNB Synonymous SNV D623D 0.014 0.01 0.031 3 16 4 0.008 9 0 0 0 0 Benign 14.63 61562 chr3 58117664 58117664 G A rs9832565 FLNB Synonymous SNV T1467T 0.018 0.016 0.051 9 21 6 0.023 15 0 0 0 0 Benign 12.4 61563 chr15 75188506 75188506 C T rs139190144 MPI Synonymous SNV N178N 0.017 0.018 0.024 5 20 7 0.013 7 2 0 0 0 Benign/Likely benign 12.58 61564 chr3 48638801 48638801 C T rs62618742 UQCRC1 Nonsynonymous SNV R269H 0.019 0.023 0.02 6 22 9 0.015 6 0 0 1 0 29.2 61565 chr15 75248565 75248565 G T rs368818408 RPP25 Synonymous SNV G120G 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign 1.136 61566 chr3 58154177 58154177 G A rs13079906 FLNB Synonymous SNV S2379S 0.02 0.029 0.068 11 23 11 0.028 20 1 0 0 0 Benign 15.61 61567 chr3 183755964 183755964 C T rs55684978 HTR3D Synonymous SNV S99S 0.045 0.016 0.014 8 53 6 0.021 4 3 0 0 0 12.94 61568 chr3 49701246 49701246 T C rs747322551 BSN Synonymous SNV S3845S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.09 61569 chr11 65561574 65561574 C T rs138566993 OVOL1 Nonsynonymous SNV P58L 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 23.1 61570 chr15 75969335 75969335 C T rs77237106 CSPG4 Nonsynonymous SNV R1842Q 0.108 0.094 0.102 42 127 36 0.108 30 12 3 2 2 16.99 61571 chr3 108147510 108147510 A G rs201473403 MYH15 Synonymous SNV F1197F 0.008 0 0.01 2 9 0 0.005 3 0 0 0 0 Benign 3.956 61572 chr3 69047210 69047210 G A rs147327086 EOGT Synonymous SNV H261H 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 Benign/Likely benign 4.761 61573 chr15 91459475 91459475 G A rs12909056 MAN2A2 Nonsynonymous SNV V995M 0.062 0.073 0.082 22 73 28 0.056 24 1 0 0 0 0.22 61574 chr15 91461545 91461545 G A rs52828316 MAN2A2 Nonsynonymous SNV R1039H 0.057 0.068 0.061 22 67 26 0.056 18 1 0 0 0 23 61575 chr15 91486305 91486305 C T rs8034551 UNC45A Synonymous SNV I195I 0.071 0.096 0.088 33 83 37 0.085 26 1 0 0 0 18.59 61576 chr15 91489919 91489919 A G rs12911432 UNC45A Synonymous SNV P280P 0.064 0.073 0.082 28 75 28 0.072 24 1 0 0 0 5.233 61577 chr15 91513674 91513674 T C rs12911192 PRC1 Nonsynonymous SNV Y470C 0.063 0.078 0.078 28 74 30 0.072 23 2 0 1 0 Uncertain significance 0.327 61578 chr3 124826596 124826596 C A rs76714073 SLC12A8 Nonsynonymous SNV R478S 0.008 0.01 0.007 5 9 4 0.013 2 0 0 0 0 5.171 61579 chr3 50151623 50151623 C T rs150564071 RBM5 Nonsynonymous SNV A593V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 21.8 61580 chr3 7503376 7503376 G T rs987790166 GRM7 Synonymous SNV L494L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.879 61581 chr3 50294936 50294936 C A rs375264138 GNAI2 Synonymous SNV A213A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.42 61582 chr11 66083591 66083591 G A rs150281243 CD248 Nonsynonymous SNV A303V 0.009 0.018 0.014 6 10 7 0.015 4 0 0 0 0 Likely benign 10.65 61583 chr15 78882797 78882797 T C rs201995384 CHRNA5 Nonsynonymous SNV I355T 0.01 0.005 0 0 12 2 0 0 0 0 0 0 22.4 61584 chr3 51863701 51863701 T C rs374602428 IQCF3 Synonymous SNV D13D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.004 61585 chr3 51908050 51908050 A G rs371431499 IQCF5 Nonsynonymous SNV L49P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.6 61586 chr11 66130847 66130847 G A rs117647993 LOC102724064 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 27.7 61587 chr11 66204624 66204624 G A rs145756140 MRPL11 Nonsynonymous SNV R142C 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 34 61588 chr3 9483315 9483315 G A rs17050347 SETD5 Synonymous SNV R283R 0.032 0.026 0.027 12 38 10 0.031 8 2 0 0 0 8.154 61589 chr3 126741041 126741041 C T rs150052583 PLXNA1 Synonymous SNV R1384R 0.014 0.016 0.01 3 17 6 0.008 3 0 0 0 0 Benign 20.6 61590 chr3 47098328 47098328 T C rs771957568 SETD2 Nonsynonymous SNV T2272A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 61591 chr3 4716915 4716915 A T rs753192870 ITPR1 Nonsynonymous SNV D906V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 61592 chr15 81188221 81188221 C G rs144349326 CEMIP Nonsynonymous SNV L411V 0.017 0.005 0.01 5 20 2 0.013 3 0 0 1 0 Benign/Likely benign 19.94 61593 chr15 79750638 79750638 A G rs548856566 MINAR1 Nonsynonymous SNV S717G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23 61594 chr3 52443865 52443865 G A rs766423600 BAP1 Synonymous SNV S10S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 15.24 61595 chr15 80762646 80762646 C T rs112846421 ARNT2 Synonymous SNV S94S 0.047 0.052 0.048 12 55 20 0.031 14 3 0 0 0 11.86 61596 chr11 67267636 67267636 G C rs59249357 PITPNM1 Synonymous SNV A299A 0.036 0.034 0.037 17 42 13 0.044 11 0 0 0 0 0.052 61597 chr11 67275063 67275063 C T rs144468375 CDK2AP2 Synonymous SNV Q5Q 0.025 0.018 0.017 11 29 7 0.028 5 0 0 0 0 Benign 13.09 61598 chr15 81624929 81624929 G T rs150843673 TMC3 Stop gain S1045X 0.029 0.018 0.044 3 34 7 0.008 13 2 0 0 0 Benign 42 61599 chr15 81625336 81625336 G A rs77430896 TMC3 Synonymous SNV F909F 0.061 0.036 0.037 16 72 14 0.041 11 2 0 1 1 11.62 61600 chr11 6735869 6735869 A G rs7937911 GVINP1 0 0 0.293 0 0 0 0 86 0 0 9 0 0.102 61601 chr3 52536242 52536242 C T rs202059385 STAB1 Nonsynonymous SNV S162L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.3 61602 chr11 6736745 6736745 G A rs7130858 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 14 61603 chr11 6737138 6737138 T C rs3741274 GVINP1 0 0 0.088 0 0 0 0 26 0 0 2 0 0.643 61604 chr11 6737258 6737258 C T rs3741273 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 4.659 61605 chr11 6737893 6737893 C T rs11040980 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 12.94 61606 chr11 6737927 6737927 G A rs11040981 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 0.051 61607 chr11 6738291 6738291 C T rs11040983 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 11.16 61608 chr3 52548830 52548830 C T rs372965499 STAB1 Synonymous SNV H1264H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.53 61609 chr11 6738728 6738728 T C rs17262495 GVINP1 0 0 0.293 0 0 0 0 86 0 0 9 0 0.115 61610 chr3 9800957 9800957 C T rs757163092 OGG1 Synonymous SNV S279S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.412 61611 chr11 6739551 6739551 T C rs11040984 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 0.01 61612 chr3 48717048 48717048 C T rs35583437 NCKIPSD Synonymous SNV L483L 0.02 0.018 0.003 14 24 7 0.036 1 0 0 0 0 13.89 61613 chr11 6739809 6739809 C T rs11040985 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 0.061 61614 chr11 6739841 6739841 G A rs79708590 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 0.018 61615 chr11 6740136 6740136 G A rs10839601 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 11.87 61616 chr11 6740206 6740206 C T rs10839602 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 16.81 61617 chr14 73973254 73973254 C T rs143649458 HEATR4 Nonsynonymous SNV A635T 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 33 61618 chr11 6740285 6740285 G A rs10839603 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 6.53 61619 chr11 6740462 6740462 G C rs10839604 GVINP1 0 0 0.092 0 0 0 0 27 0 0 2 0 5.229 61620 chr3 52563199 52563199 A T rs35920544 NT5DC2 Nonsynonymous SNV S128R 0.021 0.029 0.024 16 25 11 0.041 7 0 0 0 0 16.33 61621 chr3 49462410 49462410 T C rs61729946 NICN1 Nonsynonymous SNV H191R 0.021 0.018 0 15 25 7 0.038 0 0 0 0 0 6.261 61622 chr15 101551007 101551007 C A rs55739947 LRRK1 Nonsynonymous SNV L416M 0.014 0.008 0.014 15 17 3 0.038 4 0 0 0 0 Benign 25.7 61623 chr3 52668638 52668638 G A rs17052357 PBRM1 Synonymous SNV P427P 0.021 0.031 0.027 15 25 12 0.038 8 0 0 0 0 7.805 61624 chr3 52668776 52668776 A G rs34173244 PBRM1 Synonymous SNV D381D 0.02 0.026 0.024 16 23 10 0.041 7 0 0 0 0 4.73 61625 chr15 83544138 83544138 T C rs201330165 HOMER2 Nonsynonymous SNV I61V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Likely benign 11.45 61626 chr11 67810297 67810297 C T rs3808973 TCIRG1 Synonymous SNV H128H 0.022 0.039 0.017 9 26 15 0.023 5 0 0 0 0 Benign 10.8 61627 chr3 52727736 52727736 A G rs4532127 GNL3 Synonymous SNV E471E 0.022 0.034 0.027 16 26 13 0.041 8 0 0 0 0 9.68 61628 chr3 50005916 50005916 C T rs61731329 RBM6 Nonsynonymous SNV S353F 0.025 0.023 0.014 17 29 9 0.044 4 0 0 0 0 17.4 61629 chr15 85382307 85382307 G A rs34407151 ALPK3 Nonsynonymous SNV R134H 0.016 0.023 0.01 3 19 9 0.008 3 0 0 0 0 Likely benign 25.1 61630 chr3 130871343 130871343 T G rs6765954 NEK11 Synonymous SNV P105P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.794 61631 chr3 131100699 131100699 G T rs16836554 NUDT16 Synonymous SNV S17S 0.002 0 0.014 2 2 0 0.005 4 0 0 0 0 4.32 61632 chr3 131102173 131102173 A T rs16836565 NUDT16 Synonymous SNV P192P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.29 61633 chr15 85383458 85383458 G A rs151107093 ALPK3 Synonymous SNV K316K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 13.31 61634 chr3 132050522 132050522 A G rs780865621 ACPP Nonsynonymous SNV E83G 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 12.53 61635 chr3 51458183 51458183 G A rs79512508 DCAF1 Synonymous SNV P612P 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 6.037 61636 chr15 85666326 85666326 G A rs140486977 PDE8A Nonsynonymous SNV D617N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 34 61637 chr14 77294729 77294729 C T rs117254981 LRRC74A Nonsynonymous SNV R62W 0.018 0.01 0.017 4 21 4 0.01 5 0 0 0 0 10.75 61638 chr3 195591056 195591056 C T rs13433937 TNK2 Nonsynonymous SNV R1040H 0.028 0.026 0.037 3 33 10 0.008 11 0 1 1 0 Benign 29.8 61639 chr15 86122648 86122648 T C rs760053210 AKAP13 Nonsynonymous SNV L450S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.23 61640 chr3 54604029 54604029 C T rs2359855 CACNA2D3 Synonymous SNV D262D 0.036 0.055 0.051 13 42 21 0.033 15 2 0 0 0 14.28 61641 chr3 52326392 52326392 C T rs147241453 GLYCTK Nonsynonymous SNV R216W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.97 61642 chr3 56667896 56667896 G T rs200904014 TASOR Nonsynonymous SNV Q975K 0.009 0.005 0.007 6 10 2 0.015 2 0 0 0 0 Benign 16.54 61643 chr16 718491 718491 C T RHOT2 Nonsynonymous SNV P34S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.5 61644 chr3 121186451 121186451 T C rs532326 POLQ Synonymous SNV R2294R 0.028 0.031 0.02 11 33 12 0.028 6 2 0 0 0 0.238 61645 chr4 102751014 102751014 G C rs35978636 BANK1 Nonsynonymous SNV W10C 0.014 0.008 0.01 4 17 3 0.01 3 0 0 0 0 Benign 28.3 61646 chr3 57494165 57494165 C G rs10510794 DNAH12 Synonymous SNV L215L 0.049 0.055 0.044 12 58 21 0.031 13 2 0 0 0 10.49 61647 chr16 1034756 1034756 G A rs183697287 SOX8 Synonymous SNV Q237Q 0.012 0.013 0.003 3 14 5 0.008 1 0 0 0 0 Benign 0.011 61648 chr3 57902639 57902639 G A rs17745496 SLMAP Synonymous SNV Q166Q 0.045 0.052 0.048 12 53 20 0.031 14 1 0 0 0 Benign 5.832 61649 chr3 52546871 52546871 C T rs748986896 STAB1 Nonsynonymous SNV R1019C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 61650 chr3 133647387 133647387 G C rs149700585 C3orf36 0.027 0.021 0.02 14 32 8 0.036 6 0 0 0 0 5.88 61651 chr15 86312198 86312198 C T rs139814429 KLHL25 Nonsynonymous SNV V282M 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 21.8 61652 chr3 13383322 13383322 C T rs151008831 NUP210 Nonsynonymous SNV G1052S 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 27.2 61653 chr4 10446079 10446079 T A rs148998910 ZNF518B Nonsynonymous SNV N625I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 61654 chr11 71816044 71816044 G C rs12272086 LRTOMT Synonymous SNV L23L 0.014 0.008 0.024 7 17 3 0.018 7 0 0 0 0 Benign/Likely benign 5.682 61655 chr3 134339626 134339626 A G rs188233679 KY Nonsynonymous SNV V144A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.1 61656 chr3 197687174 197687174 C G LMLN Nonsynonymous SNV R28G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 61657 chr15 87066168 87066168 G A rs144777747 AGBL1 Nonsynonymous SNV V895M 0.008 0.01 0.02 5 9 4 0.013 6 0 0 0 0 22.1 61658 chr11 72281941 72281941 A G rs79982683 LINC01537 0 0 0.099 0 0 0 0 29 0 0 0 0 2.436 61659 chr4 106580342 106580342 G A rs191767409 ARHGEF38 Synonymous SNV T455T 0.006 0.005 0.003 7 7 2 0.018 1 0 0 0 0 13.95 61660 chr4 107154787 107154787 G A rs56118383 TBCK Synonymous SNV Y427Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 8.744 61661 chr11 73724508 73724508 C A rs61733219 C2CD3 Synonymous SNV S2328S 0.01 0.016 0.024 4 12 6 0.01 7 0 0 0 0 21.4 61662 chr3 137822657 137822657 C T DZIP1L Nonsynonymous SNV A53T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 61663 chr3 54914833 54914833 G A rs770910729 CACNA2D3 Nonsynonymous SNV A619T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 61664 chr3 55508644 55508644 C A rs147104982 WNT5A Synonymous SNV T120T 0.024 0.01 0.014 8 28 4 0.021 4 0 0 0 1 Benign 21.7 61665 chr3 73111503 73111503 - TGG rs143235716 EBLN2 L91_E92insV 0.031 0.021 0.051 12 36 8 0.031 15 0 0 0 0 61666 chr3 122420050 122420050 C T rs61732765 PARP14 Synonymous SNV P883P 0.025 0.021 0.02 11 29 8 0.028 6 0 0 0 0 14.78 61667 chr3 73433539 73433539 G A PDZRN3 Synonymous SNV F424F 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 5.027 61668 chr16 1537588 1537588 C G rs12932893 PTX4 Synonymous SNV L170L 0.062 0.044 0.044 18 73 17 0.046 13 3 0 0 1 1.324 61669 chr3 78663949 78663949 G A rs4443127 ROBO1 Synonymous SNV G1328G 0.031 0.034 0.054 17 36 13 0.044 16 0 1 0 1 0.754 61670 chr3 78688958 78688958 G A rs35926083 ROBO1 Synonymous SNV S946S 0.032 0.039 0.061 19 38 15 0.049 18 0 1 0 1 8.975 61671 chr4 110791088 110791090 TCT - rs794727660 LRIT3 S396del 0.043 0.049 0.048 18 50 19 0.046 14 2 0 0 1 61672 chr14 91671138 91671138 C T rs114953496 DGLUCY Synonymous SNV C511C 0.006 0.013 0.017 3 7 5 0.008 5 0 0 0 0 12.59 61673 chr11 76400254 76400254 T C rs11236860 GUCY2EP 0 0 0.102 0 0 0 0 30 0 0 2 0 0.098 61674 chr3 3197918 3197918 A G rs17027638 CRBN Synonymous SNV Y244Y 0.007 0.01 0.027 1 8 4 0.003 8 1 0 1 0 Likely benign 3.173 61675 chr3 141205942 141205942 C T rs201352230 RASA2 Nonsynonymous SNV P6L 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Uncertain significance 23.7 61676 chr16 1573890 1573890 G A rs2235638 IFT140 Nonsynonymous SNV A1070V 0.051 0.039 0.048 18 60 15 0.046 14 1 0 0 0 Benign 15.46 61677 chr3 124540185 124540185 T C rs144233055 ITGB5 Nonsynonymous SNV N198S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 61678 chr3 9691409 9691409 G A rs756733484 MTMR14 Nonsynonymous SNV G48R 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 24.2 61679 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAA 0.022 0.016 0 5 26 6 0.013 0 1 1 0 0 61680 chr16 1616201 1616201 C T rs11648609 IFT140 Nonsynonymous SNV R621Q 0.055 0.042 0.027 23 64 16 0.059 8 0 0 0 0 Benign 0.437 61681 chr3 33099712 33099712 C T rs189115557 GLB1 Nonsynonymous SNV R201H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Pathogenic 33 61682 chr14 92922782 92922782 G A rs62623445 SLC24A4 Nonsynonymous SNV S362N 0.042 0.049 0.051 13 49 19 0.033 15 2 0 0 0 9.282 61683 chr4 119158345 119158345 C T rs138955155 NDST3 Synonymous SNV D696D 0.026 0.034 0.027 7 30 13 0.018 8 0 0 0 0 12.02 61684 chr3 124826956 124826956 T C rs182863165 SLC12A8 Synonymous SNV K358K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.819 61685 chr4 119610606 119610606 A G rs62328061 METTL14 Synonymous SNV E79E 0.081 0.083 0.068 15 95 32 0.038 20 5 2 1 0 10.14 61686 chr4 119652606 119652606 G T rs76459466 SEC24D Synonymous SNV S912S 0.029 0.026 0.017 4 34 10 0.01 5 0 0 0 0 11.36 61687 chr3 97806205 97806205 A G OR5AC2 Synonymous SNV L63L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.91 61688 chr3 147114032 147114032 C G rs34676558 ZIC4 Nonsynonymous SNV G149R 0.01 0.013 0.024 2 12 5 0.005 7 0 0 0 0 25.5 61689 chr3 97888177 97888177 G A rs148481518 OR5H15 Nonsynonymous SNV V212M 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 0.001 61690 chr14 94083581 94083581 C T rs200366006 UNC79 Synonymous SNV C1385C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.39 61691 chr3 98072962 98072962 G A rs111341876 OR5K4 Nonsynonymous SNV D89N 0.018 0.021 0.031 11 21 8 0.028 9 0 0 1 1 0.012 61692 chr15 90611818 90611818 C A rs75398740 ZNF710 Synonymous SNV L483L 0.007 0.005 0.007 5 8 2 0.013 2 0 0 1 0 10.79 61693 chr3 69171290 69171290 C T rs35740823 LMOD3 Nonsynonymous SNV R83H 0.032 0.029 0.031 12 38 11 0.031 9 0 0 0 0 Benign 26.9 61694 chr15 90904154 90904154 C T rs764269024 ZNF774 Nonsynonymous SNV T364M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 17.93 61695 chr3 148896200 148896200 A G rs771277095 CP 0.001 0 0 0 1 0 0 0 0 0 0 0 23 61696 chr3 148916215 148916215 G A rs61733458 CP Nonsynonymous SNV T551I 0.018 0.026 0.031 8 21 10 0.021 9 0 0 0 0 Benign/Likely benign 29.7 61697 chr3 126208186 126208186 G A rs199637482 UROC1 Synonymous SNV D547D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.01 61698 chr3 149498132 149498132 C A rs77152758 ANKUB1 Synonymous SNV L115L 0.016 0.018 0.017 3 19 7 0.008 5 0 0 0 0 16.17 61699 chr14 94849388 94849388 G A rs28931570 SERPINA1 Nonsynonymous SNV R63C 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Pathogenic/Likely pathogenic 26.5 61700 chr4 123249429 123249429 G A rs74414351 KIAA1109 Synonymous SNV L3722L 0.037 0.047 0.027 15 44 18 0.038 8 1 0 0 0 11.21 61701 chr11 7817736 7817736 T G rs762072377 OR5P2 Nonsynonymous SNV T252P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 61702 chr15 91769533 91769533 G A rs148343244 SV2B Nonsynonymous SNV A14T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 6.94 61703 chr15 93486206 93486206 A T rs149632554 CHD2 Synonymous SNV T320T 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 Benign/Likely benign 0.762 61704 chr3 97594345 97594345 T C rs76578061 CRYBG3 Nonsynonymous SNV L1436S 0.009 0.021 0.007 1 11 8 0.003 2 0 0 0 0 0.04 61705 chr3 97686019 97686019 G A rs41265444 RIOX2 Nonsynonymous SNV P140L 0.009 0.021 0.007 1 11 8 0.003 2 0 0 0 0 31 61706 chr3 97888302 97888302 C A rs115424559 OR5H15 Synonymous SNV G253G 0.01 0.016 0.01 10 12 6 0.026 3 1 0 0 0 6.441 61707 chr16 3433311 3433311 G A rs143429189 ZSCAN32 Synonymous SNV G256G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 5.742 61708 chr16 3534831 3534831 C G rs17793994 NAA60 Nonsynonymous SNV H160D 0.021 0.013 0.024 8 25 5 0.021 7 1 0 0 0 11.45 61709 chr4 10444986 10444986 A G rs140377421 ZNF518B Synonymous SNV H989H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.003 61710 chr4 13600953 13600953 C T rs61995952 BOD1L1 Nonsynonymous SNV R2524H 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 0.692 61711 chr15 101109683 101109683 T C rs1047320 LINS1 Synonymous SNV P678P 0.03 0.021 0.027 9 35 8 0.023 8 1 0 0 0 Likely benign 3.964 61712 chr15 101529012 101529012 A G rs35985016 LRRK1 Nonsynonymous SNV K203E 0.006 0.003 0 0 7 1 0 0 0 0 0 0 18.52 61713 chr4 106155199 106155199 C T rs111948941 TET2 Nonsynonymous SNV L34F 0.018 0.018 0.007 6 21 7 0.015 2 0 0 0 0 not provided 23 61714 chr4 106197000 106197000 A G rs62621450 TET2 Nonsynonymous SNV H1778R 0.045 0.029 0.037 14 53 11 0.036 11 0 0 0 0 not provided 23.5 61715 chr4 140641419 140641419 C T rs762539903 MAML3 Synonymous SNV T825T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 14.63 61716 chr16 4431457 4431457 C T rs369854738 VASN Synonymous SNV N193N 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.075 61717 chr15 101608975 101608975 C T rs199664807 LRRK1 Synonymous SNV G1990G 0.006 0.013 0 7 7 5 0.018 0 0 0 0 0 18.72 61718 chr4 144359490 144359490 C T rs28925904 GAB1 Nonsynonymous SNV P311L 0.016 0.008 0.01 5 19 3 0.013 3 0 0 0 0 23.1 61719 chr16 427765 427765 G A rs143766173 PGAP6 Nonsynonymous SNV R69C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 33 61720 chr11 89911247 89911247 A G NAALAD2 Nonsynonymous SNV K574R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.61 61721 chr4 146697063 146697063 A G rs6818581 ZNF827 Synonymous SNV R857R 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 8.143 61722 chr14 104220547 104220547 C T rs201621603 PPP1R13B Nonsynonymous SNV R164H 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 23.8 61723 chr16 618196 618196 G C rs753935484 NHLRC4 Nonsynonymous SNV C50S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 61724 chr16 112593 112593 G A rs149482835 RHBDF1 Nonsynonymous SNV A299V 0.009 0.016 0.02 11 11 6 0.028 6 0 1 0 0 7.31 61725 chr16 242991 242993 CTC - rs756058279 LUC7L E237del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 61726 chr11 92534181 92534181 C A rs781266855 FAT3 Nonsynonymous SNV Q2668K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 61727 chr4 110897315 110897315 C T rs11568993 EGF Synonymous SNV C617C 0.08 0.102 0.082 31 94 39 0.079 24 5 3 2 0 Benign 16.05 61728 chr16 848755 848755 G A rs36073541 GNG13 Synonymous SNV N56N 0.022 0.018 0.017 4 26 7 0.01 5 0 0 0 0 10.49 61729 chr16 920870 920870 C T rs35168378 LMF1 Nonsynonymous SNV R255Q 0.037 0.036 0.051 7 43 14 0.018 15 1 0 2 0 27.3 61730 chr16 921179 921179 G A rs143076454 LMF1 Nonsynonymous SNV R245W 0.024 0.031 0.02 4 28 12 0.01 6 1 0 0 0 13.3 61731 chr16 7759119 7759119 G A rs145873257 RBFOX1 Nonsynonymous SNV G374S 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Likely benign 16.56 61732 chr3 45000626 45000626 G A rs35142429 ZDHHC3 Synonymous SNV D101D 0.011 0.003 0.007 1 13 1 0.003 2 0 0 0 0 7.386 61733 chr16 449653 449653 C T rs148062522 NME4 Synonymous SNV R84R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.2 61734 chr3 136019898 136019898 C T rs147538201 PCCB Nonsynonymous SNV T304I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.9 61735 chr4 119631448 119631448 A G rs143516551 METTL14 Synonymous SNV P454P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.38 61736 chr4 107230100 107230100 G A rs139587868 TBCK Synonymous SNV D6D 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 9.132 61737 chr16 10565979 10565981 TGT - rs566280429 ATF7IP2 V456del 0.02 0.016 0.02 9 24 6 0.023 6 0 0 0 0 61738 chr16 10574796 10574796 C T rs9932051 ATF7IP2 Nonsynonymous SNV P515S 0.044 0.031 0.048 16 52 12 0.041 14 0 1 0 1 0.242 61739 chr4 120221878 120221878 C T rs566499624 C4orf3 Nonsynonymous SNV R71K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.791 61740 chr16 10574813 10574813 G A rs9931441 ATF7IP2 Nonsynonymous SNV M520I 0.043 0.031 0.048 16 51 12 0.041 14 0 1 0 1 16.8 61741 chr16 1252152 1252152 G A rs61056448 CACNA1H Nonsynonymous SNV D568N 0.002 0.013 0.007 2 2 5 0.005 2 0 0 0 0 Benign 5.439 61742 chr16 1272298 1272298 G A rs146081704 TPSG1 Synonymous SNV S185S 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 7.037 61743 chr4 108925994 108925994 A G rs17510991 HADH Nonsynonymous SNV H22R 0.043 0.039 0.061 21 50 15 0.054 18 0 0 0 2 1.373 61744 chr4 155411721 155411721 G A rs199621086 DCHS2 Nonsynonymous SNV R263W 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 25.9 61745 chr16 1252274 1252274 G A rs57260464 CACNA1H Synonymous SNV L608L 0.002 0.013 0.007 2 2 5 0.005 2 0 0 0 0 Benign 0.698 61746 chr16 10775857 10775857 C G rs35557541 TEKT5 Nonsynonymous SNV D286H 0.023 0.021 0.024 14 27 8 0.036 7 0 0 0 0 25.2 61747 chr11 9879838 9879838 C T rs7102464 SBF2 Nonsynonymous SNV E679K 0.048 0.021 0.037 7 56 8 0.018 11 1 0 1 0 Benign 20.7 61748 chr4 121739667 121739667 T A rs146268537 PRDM5 Nonsynonymous SNV K164I 0.015 0.008 0.007 7 18 3 0.018 2 1 0 0 0 Benign 23.2 61749 chr16 1484836 1484836 G A CCDC154 Synonymous SNV A570A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.471 61750 chr3 46449863 46449863 G A rs111863112 CCRL2 Nonsynonymous SNV G110E 0.038 0.029 0.044 19 45 11 0.049 13 0 0 0 0 0.002 61751 chr15 22939186 22939186 G A rs142622793 CYFIP1 Synonymous SNV V182V 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 Benign/Likely benign 12.26 61752 chr12 100550996 100550996 G A rs12370675 GOLGA2P5 0 0 0.031 0 0 0 0 9 0 0 1 0 6.399 61753 chr16 11260278 11260278 G A rs72650687 CLEC16A Nonsynonymous SNV S892N 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Likely benign 19.68 61754 chr3 46491985 46491985 C T rs61740470 LTF Synonymous SNV Q250Q 0.026 0.023 0.024 7 30 9 0.018 7 0 0 0 0 8.753 61755 chr16 1826148 1826148 G A rs61753376 EME2 Nonsynonymous SNV R350H 0.02 0.021 0.017 8 23 8 0.021 5 1 0 1 0 11.04 61756 chr3 46497369 46497369 C T rs142920270 LTF Nonsynonymous SNV R95H 0.003 0 0 0 3 0 0 0 0 0 0 0 16.35 61757 chr3 142741813 142741813 C T rs190778086 U2SURP Synonymous SNV S379S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 61758 chr3 184071984 184071984 G A rs115803480 CLCN2 Synonymous SNV N498N 0.035 0.021 0.051 21 41 8 0.054 15 0 0 0 0 9.895 61759 chr3 142840775 142840775 G A rs139876859 CHST2 Nonsynonymous SNV G373S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.94 61760 chr15 28326976 28326976 C T rs202091837 OCA2 Synonymous SNV P15P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.2 61761 chr4 125593332 125593332 G A rs140232140 ANKRD50 Nonsynonymous SNV T188M 0.005 0.013 0.003 7 6 5 0.018 1 0 0 0 0 10.71 61762 chr16 14015932 14015932 C T rs3136056 ERCC4 Synonymous SNV L84L 0.009 0.01 0.007 2 10 4 0.005 2 0 0 0 0 Benign/Likely benign 14.85 61763 chr4 114186067 114186067 A G rs142159132 ANK2 Synonymous SNV A397A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 7.384 61764 chr16 1997077 1997077 G A rs35067006 RPL3L Synonymous SNV T237T 0.018 0.016 0.01 5 21 6 0.013 3 0 0 0 0 4.787 61765 chr4 164394543 164394543 - G rs542641888 TKTL2 Frameshift insertion R115Pfs*6 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 61766 chr15 30008977 30008977 T G rs2291166 TJP1 Nonsynonymous SNV D1267A 0.044 0.06 0.024 26 52 23 0.067 7 1 0 0 0 29.5 61767 chr12 102036240 102036240 G A rs746275195 MYBPC1 Nonsynonymous SNV E186K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 61768 chr16 2025587 2025587 C T rs140355892 TBL3 Nonsynonymous SNV P288L 0.019 0.018 0.007 5 22 7 0.013 2 1 0 0 0 0.477 61769 chr16 1825962 1825966 TCCCC - rs745411622 EME2 S317Pfs*29 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 61770 chr16 1837991 1837991 C T rs111886912 NUBP2 Nonsynonymous SNV T39M 0.026 0.031 0.014 9 30 12 0.023 4 1 0 0 0 Benign 19.16 61771 chr4 120177489 120177489 A G rs61736682 USP53 Nonsynonymous SNV K154R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 28.2 61772 chr15 31776213 31776213 - GGCGGCGGCGGC OTUD7A A689_T690insAAAA 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 61773 chr12 103246653 103246653 C T rs5030849 PAH Nonsynonymous SNV R261Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 35 61774 chr16 2134492 2134492 G A rs45438898 TSC2 Synonymous SNV L1179L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 1.397 61775 chr16 2259410 2259410 G A rs111384111 BRICD5 Nonsynonymous SNV P214S 0.006 0.008 0 0 7 3 0 0 0 0 0 0 29.1 61776 chr12 104153051 104153051 G A rs201025236 STAB2 Synonymous SNV P2416P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.452 61777 chr12 104238021 104238021 T C rs73386107 TTC41P 0 0 0.037 0 0 0 0 11 0 0 1 0 3.03 61778 chr12 104277572 104277572 C T rs2583237 TTC41P 0 0 0.119 0 0 0 0 35 0 0 0 0 10.61 61779 chr12 104345384 104345384 G A rs2293624 C12orf73 Nonsynonymous SNV R45C 0.031 0.031 0.027 8 36 12 0.021 8 0 0 1 0 28 61780 chr12 104376693 104376693 G A rs4135113 TDG Nonsynonymous SNV G56S 0.032 0.031 0.041 9 38 12 0.023 12 0 0 1 0 22.8 61781 chr12 104390525 104390525 G A rs3817602 GLT8D2 Synonymous SNV L196L 0.032 0.031 0.041 10 38 12 0.026 12 0 0 1 0 13.22 61782 chr12 104522206 104522206 A G rs61755993 NFYB Synonymous SNV H32H 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 5.562 61783 chr3 48716536 48716536 G A rs75577765 NCKIPSD Nonsynonymous SNV P551S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 26.5 61784 chr3 151105949 151105949 T C rs140793301 MED12L Nonsynonymous SNV S1779P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.93 61785 chr3 48716537 48716537 C A rs76815705 NCKIPSD Synonymous SNV L550L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 14.06 61786 chr4 13603591 13603591 C T rs17807493 BOD1L1 Nonsynonymous SNV V1645I 0.038 0.031 0.048 14 45 12 0.036 14 0 0 0 0 6.321 61787 chr16 2906117 2906117 G C PRSS22 Nonsynonymous SNV R83G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 61788 chr3 49153935 49153935 G T rs200252720 USP19 Nonsynonymous SNV T295N 0.003 0 0 0 4 0 0 0 0 0 0 0 17.75 61789 chr16 3021712 3021712 G C rs35149676 PAQR4 Synonymous SNV L121L 0.017 0.013 0.014 3 20 5 0.008 4 0 0 0 0 0.146 61790 chr15 34546704 34546704 G A rs35583475 SLC12A6 Synonymous SNV Y306Y 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Benign/Likely benign 7.457 61791 chr16 2510639 2510639 C T rs778389569 TEDC2 Synonymous SNV T47T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.243 61792 chr3 151531989 151531989 C A rs35544417 AADAC Synonymous SNV I13I 0.003 0 0.007 6 4 0 0.015 2 0 0 0 0 13.35 61793 chr16 2813210 2813210 C T rs750449689 SRRM2 Nonsynonymous SNV S894F 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 9.691 61794 chr3 187386972 187386972 C T rs35517186 SST Nonsynonymous SNV E78K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 61795 chr15 35174718 35174718 G A rs17237242 AQR Synonymous SNV V1050V 0.026 0.013 0.02 11 30 5 0.028 6 0 0 0 1 12.24 61796 chr16 21008629 21008629 C T rs143704696 DNAH3 Nonsynonymous SNV G2147R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 29.6 61797 chr16 2990062 2990062 A T rs200567618 FLYWCH1 Nonsynonymous SNV T694S 0.011 0.018 0.007 3 13 7 0.008 2 0 0 0 0 Benign 6.967 61798 chr4 141583176 141583176 C T rs28465061 TBC1D9 Synonymous SNV E558E 0.079 0.07 0.075 38 93 27 0.097 22 8 1 1 1 14.17 61799 chr3 49691675 49691675 A G rs75625777 BSN Synonymous SNV A1562A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.21 61800 chr3 49698115 49698115 G A rs116113662 BSN Nonsynonymous SNV R2946Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.3 61801 chr16 3119326 3119326 G A rs140102091 IL32 Synonymous SNV Q170Q 0.014 0.013 0.017 7 16 5 0.018 5 0 0 0 0 0.248 61802 chr3 158289136 158289136 C T rs763171016 MLF1 Nonsynonymous SNV R6C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.85 61803 chr4 177114198 177114198 A G rs140439880 SPATA4 Synonymous SNV P126P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.279 61804 chr3 193080417 193080417 T G rs151276318 ATP13A5 Nonsynonymous SNV M132L 0.014 0.021 0.027 2 17 8 0.005 8 0 0 1 0 9.242 61805 chr4 17805379 17805379 G A rs7690457 DCAF16 Nonsynonymous SNV T129I 0.038 0.073 0.041 19 45 28 0.049 12 0 0 0 0 11.73 61806 chr12 108589758 108589758 C T rs61737703 WSCD2 Nonsynonymous SNV A50V 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 19.34 61807 chr3 193272398 193272398 A G ATP13A4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 61808 chr12 108603943 108603943 C T rs200772431 WSCD2 Synonymous SNV C181C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.7 61809 chr3 50144245 50144245 T C rs145275102 RBM5 Synonymous SNV L301L 0.003 0 0 0 4 0 0 0 0 0 0 0 7.507 61810 chr15 40544531 40544531 C G rs117614422 C15orf56 Synonymous SNV T147T 0.037 0.031 0.044 5 44 12 0.013 13 3 0 1 0 10.65 61811 chr16 23540895 23540895 - GAG rs753414156 EARS2 T426_R427insP 0.003 0 0 1 3 0 0.003 0 0 0 0 0 61812 chr4 1801511 1801511 C T rs3135867 FGFR3 Synonymous SNV D139D 0.061 0.083 0.071 21 72 32 0.054 21 4 2 0 0 Benign 15.03 61813 chr16 3361817 3361817 T C rs921949365 ZNF75A Nonsynonymous SNV F158S 0.003 0.013 0 4 3 5 0.01 0 0 0 0 0 2.262 61814 chr15 40656047 40656047 G A rs35070171 DISP2 Nonsynonymous SNV R114Q 0.065 0.047 0.017 9 76 18 0.023 5 5 0 0 1 17.51 61815 chr15 40699921 40699921 C T rs143807229 IVD Synonymous SNV L61L 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 Benign/Likely benign 13.95 61816 chr4 183603091 183603091 C T rs113845624 TENM3 Synonymous SNV S653S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.83 61817 chr3 164700043 164700043 G A rs146830505 SI Synonymous SNV D1801D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 0.055 61818 chr3 194174465 194174465 C T rs370845183 ATP13A3 Nonsynonymous SNV V270I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 61819 chr4 184203990 184203990 C T rs17291770 WWC2 Synonymous SNV D938D 0.045 0.044 0.048 30 53 17 0.077 14 0 0 0 3 11.22 61820 chr3 52027859 52027859 - CCTTGG RPL29 K130_D131insAK 0.015 0.013 0 5 18 5 0.013 0 0 0 0 0 61821 chr4 184236868 184236868 G A rs4862155 WWC2 Nonsynonymous SNV A1189T 0.044 0.044 0.051 31 52 17 0.079 15 0 0 0 3 24.9 61822 chr4 13583894 13583894 C T rs114343018 BOD1L1 Synonymous SNV E2853E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.42 61823 chr3 52379656 52379656 C T rs142935638 DNAH1 Synonymous SNV H530H 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Benign 10.23 61824 chr4 184427443 184427447 GCTCG - ING2 L9Tfs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 61825 chr15 40949339 40949339 A G rs202065324 KNL1 Nonsynonymous SNV Q2195R 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 23.2 61826 chr12 109936056 109936056 T C rs61748069 UBE3B Nonsynonymous SNV S280P 0.006 0.018 0.014 4 7 7 0.01 4 0 0 0 1 22.9 61827 chr3 195487874 195487874 A C MUC4 Nonsynonymous SNV I623S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 61828 chr15 41036410 41036410 G T rs117862109 RMDN3 Nonsynonymous SNV Q275K 0.01 0.008 0.003 1 12 3 0.003 1 0 0 0 0 11.96 61829 chr4 138450774 138450774 G A rs375416110 PCDH18 Synonymous SNV H823H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.731 61830 chr12 109948150 109948150 G A rs905507212 UBE3B Synonymous SNV E581E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 61831 chr4 186361829 186361829 A G C4orf47 Nonsynonymous SNV K98E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 61832 chr15 41372055 41372055 G T rs34467689 INO80 Synonymous SNV A325A 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Benign 0.065 61833 chr12 110207046 110207046 C T rs142286258 FAM222A Synonymous SNV L438L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.988 61834 chr15 41483640 41483640 C T rs7168916 EXD1 Synonymous SNV Q230Q 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 8.642 61835 chr12 110383141 110383141 G A rs11068997 GIT2 Nonsynonymous SNV A501V 0.018 0.016 0.041 10 21 6 0.026 12 1 0 0 0 23 61836 chr3 52651353 52651353 A G rs776036109 PBRM1 Synonymous SNV A581A 0.003 0 0 0 4 0 0 0 0 0 0 0 4.618 61837 chr3 17056271 17056271 G A rs61755446 PLCL2 Synonymous SNV A836A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.01 61838 chr15 41749916 41749916 T C rs35588442 RTF1 Synonymous SNV D168D 0.01 0.003 0.007 3 12 1 0.008 2 0 0 0 0 2.911 61839 chr4 155490344 155490344 G T rs6058 FGB Synonymous SNV V222V 0.007 0.005 0.003 5 8 2 0.013 1 0 0 0 0 Benign 7.695 61840 chr4 155505291 155505291 G A rs2070033 FGA Synonymous SNV P862P 0.011 0.008 0 8 13 3 0.021 0 0 0 0 0 Benign 0.101 61841 chr16 5050720 5050720 G T rs111249494 SEC14L5 Synonymous SNV V345V 0.013 0.013 0.01 4 15 5 0.01 3 0 0 0 0 11.2 61842 chr4 147560454 147560454 - GGC POU4F2 G68_R69insG 0.002 0 0 0 2 0 0 0 0 0 0 0 61843 chr3 17520888 17520888 C G rs7628126 TBC1D5 0.02 0.018 0 4 24 7 0.01 0 0 0 0 0 1.986 61844 chr15 42134416 42134416 C T rs117260632 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV A216V 0.027 0.026 0.014 20 32 10 0.051 4 0 0 0 0 17.19 61845 chr4 187113175 187113175 G A CYP4V2 Nonsynonymous SNV M66I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.74 61846 chr4 148550841 148550841 T C rs151036604 TMEM184C Synonymous SNV L222L 0.021 0.026 0.01 7 25 10 0.018 3 0 0 0 0 10.69 61847 chr15 42145049 42145049 C T rs55978013 SPTBN5 Synonymous SNV E3440E 0.1 0.099 0.095 42 117 38 0.108 28 2 3 0 1 9.937 61848 chr15 42146987 42146987 C T rs376322805 SPTBN5 Nonsynonymous SNV R3204H 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 23.9 61849 chr4 15004803 15004803 - GCA rs576522935 CPEB2 Q173_L174insQ 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 61850 chr3 196869603 196869603 T C rs562094599 DLG1 Nonsynonymous SNV I109V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.34 61851 chr12 112194170 112194170 C T rs748666716 ACAD10 Nonsynonymous SNV P1025S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 61852 chr16 5050717 5050717 C T rs770075768 SEC14L5 Synonymous SNV A344A 0 0.003 0 4 0 1 0.01 0 0 0 0 0 18.35 61853 chr16 5061181 5061181 C T rs199930404 SEC14L5 Nonsynonymous SNV P629L 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 24 61854 chr16 30518096 30518096 C T rs2230434 ITGAL Synonymous SNV N725N 0.049 0.039 0.027 26 58 15 0.067 8 0 0 0 0 7.968 61855 chr3 55108149 55108149 A G rs17054785 CACNA2D3 Synonymous SNV A1064A 0.091 0.089 0.092 25 107 34 0.064 27 9 0 3 0 2.12 61856 chr4 152577397 152577397 C T rs61744219 FAM160A1 Synonymous SNV S855S 0.007 0.013 0 4 8 5 0.01 0 0 0 0 0 13.34 61857 chr3 183107557 183107557 C T rs61752076 MCF2L2 Nonsynonymous SNV M29I 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 25.2 61858 chr15 42379523 42379523 C T rs757985311 PLA2G4D Nonsynonymous SNV R77H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.038 61859 chr4 189060803 189060803 T A rs62618670 TRIML1 Nonsynonymous SNV C31S 0.028 0.026 0.02 9 33 10 0.023 6 0 1 0 0 27.7 61860 chr4 189068280 189068280 C T rs756458995 TRIML1 Synonymous SNV Y387Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 61861 chr16 11944177 11944177 C T rs11554653 RSL1D1 Synonymous SNV V68V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 14.61 61862 chr16 11945350 11945350 G A rs150419519 RSL1D1 Nonsynonymous SNV A7V 0.012 0.008 0.003 0 14 3 0 1 0 0 0 0 2.951 61863 chr3 183754585 183754585 C T rs56365132 HTR3D Synonymous SNV T139T 0.074 0.081 0.058 25 87 31 0.064 17 4 2 1 1 6.994 61864 chr4 167020644 167020644 A G rs2291822 TLL1 Nonsynonymous SNV T958A 0.033 0.026 0.024 14 39 10 0.036 7 1 0 1 0 0.022 61865 chr3 183756391 183756391 C G rs75040538 HTR3D Nonsynonymous SNV L197V 0.074 0.081 0.058 25 87 31 0.064 17 4 2 1 1 14.51 61866 chr3 183756637 183756637 C T rs56203055 HTR3D Synonymous SNV A238A 0.074 0.081 0.058 26 87 31 0.067 17 4 2 1 1 10.13 61867 chr12 116586415 116586416 TA - rs10549054 MIR620 0 0 0.071 0 0 0 0 21 0 0 5 0 61868 chr4 2252845 2252845 C T rs2233042 MXD4 Synonymous SNV T146T 0.069 0.042 0.031 18 81 16 0.046 9 2 0 0 1 12.3 61869 chr3 57542199 57542199 G T rs61747701 PDE12 Synonymous SNV A31A 0.026 0.018 0.017 15 30 7 0.038 5 0 0 0 0 0.816 61870 chr16 14042077 14042077 A G rs1800124 ERCC4 Nonsynonymous SNV E875G 0.031 0.031 0.02 13 36 12 0.033 6 0 0 0 0 Benign/Likely benign 27.7 61871 chr15 43486656 43486656 C A rs377272929 CCNDBP1 Nonsynonymous SNV T322K 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 27.5 61872 chr3 57898376 57898376 T A rs35219531 SLMAP Synonymous SNV L107L 0.02 0.013 0.01 9 24 5 0.023 3 0 0 0 0 Benign 12.05 61873 chr15 43495396 43495396 C T rs376680136 EPB42 Nonsynonymous SNV A596T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 26.4 61874 chr3 183948663 183948663 G A rs1687225 VWA5B2 Nonsynonymous SNV G90S 0.066 0.073 0.034 42 77 28 0.108 10 13 6 3 10 15.11 61875 chr15 43512954 43512954 G A rs144428415 EPB42 Nonsynonymous SNV P24S 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 Uncertain significance 0.002 61876 chr4 155468910 155468910 T C PLRG1 Nonsynonymous SNV Q71R 0.005 0 0 2 6 0 0.005 0 0 0 0 0 11 61877 chr12 118517275 118517275 C T rs79975193 VSIG10 Synonymous SNV V267V 0 0 0.007 0 0 0 0 2 0 0 0 0 16.49 61878 chr15 43544969 43544969 C T rs144575810 TGM5 Nonsynonymous SNV V202I 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 Uncertain significance 24.4 61879 chr15 43819150 43819150 C G rs2229014 MAP1A Nonsynonymous SNV P1827A 0.015 0.01 0.007 10 18 4 0.026 2 0 0 0 0 1.963 61880 chr4 15570997 15570997 G T rs771914973 CC2D2A Synonymous SNV L1160L 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.114 61881 chr12 119722134 119722134 C - rs200971796 LINC00934 0 0 0.085 0 0 0 0 25 0 0 2 0 61882 chr12 119722135 119722135 A T rs116014361 LINC00934 0 0 0.085 0 0 0 0 25 0 0 2 0 6.838 61883 chr12 120139701 120139701 T G rs34140357 CIT Synonymous SNV G1747G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.332 61884 chr4 156135784 156135784 T C rs780129798 NPY2R Synonymous SNV P231P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.032 61885 chr12 120145987 120145987 G C rs56158046 CIT Synonymous SNV G1694G 0.025 0.016 0.031 11 29 6 0.028 9 0 0 0 0 0.994 61886 chr16 50338322 50338322 G A rs78286739 ADCY7 Nonsynonymous SNV A474T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.97 61887 chr12 120271975 120271975 G C rs138095441 CIT Nonsynonymous SNV Q192E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 61888 chr4 170913321 170913321 A C rs148676508 MFAP3L Synonymous SNV S43S 0.022 0.023 0.014 12 26 9 0.031 4 0 0 0 0 0.005 61889 chr3 184049382 184049382 C T rs111921843 EIF4G1 Synonymous SNV F1266F 0.014 0.016 0.017 11 17 6 0.028 5 0 0 0 0 Benign 15.62 61890 chr4 26484904 26484904 G A rs41267457 CCKAR Nonsynonymous SNV H210Y 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 8.889 61891 chr4 158057804 158057804 A T GLRB Nonsynonymous SNV I161F 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 25.7 61892 chr16 15961351 15961351 T C rs15784 FOPNL Synonymous SNV E83E 0.049 0.049 0.024 21 57 19 0.054 7 0 0 0 0 0.017 61893 chr16 15961356 15961356 C T rs12598966 FOPNL Nonsynonymous SNV E82K 0.049 0.049 0.024 21 57 19 0.054 7 0 0 0 0 17.45 61894 chr16 15961369 15961369 G A rs60244915 FOPNL Synonymous SNV D77D 0.048 0.049 0.024 21 56 19 0.054 7 0 0 0 0 0.076 61895 chr3 38349147 38349150 TTTG - rs138257211 SLC22A14 L238Sfs*25 0.021 0.023 0.003 5 25 9 0.013 1 0 0 0 0 61896 chr16 15967361 15967361 - CTA rs10656021 FOPNL S78_R79insS 0.048 0.049 0.031 21 56 19 0.054 9 0 0 0 0 61897 chr4 2990487 2990487 C T rs140178959 GRK4 Nonsynonymous SNV P29L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 61898 chr4 3076603 3076603 - CAG rs763773724 HTT Q38_P39insQ 0.029 0.034 0.007 12 34 13 0.031 2 4 1 0 2 61899 chr3 186006602 186006602 G A rs190526753 DGKG Synonymous SNV P147P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.845 61900 chr16 56530895 56530895 G A rs200021475 BBS2 Nonsynonymous SNV R632C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 35 61901 chr16 16278880 16278880 C T ABCC6 Nonsynonymous SNV D627N 0 0 0 2 0 0 0.005 0 0 0 0 0 12.12 61902 chr4 17812796 17812796 C T rs16895792 NCAPG Synonymous SNV S32S 0.034 0.06 0.031 18 40 23 0.046 9 0 0 0 0 15.9 61903 chr4 36317965 36317965 T C rs60640167 DTHD1 Nonsynonymous SNV Y443H 0.042 0.023 0.044 8 49 9 0.021 13 3 0 1 0 15.85 61904 chr4 3769266 3769266 G C rs181208952 ADRA2C Synonymous SNV A311A 0.008 0.013 0.041 0 9 5 0 12 1 1 1 0 Likely benign 0.428 61905 chr4 3769296 3769307 GGGGGCGGGGCC - rs61767072 ADRA2C G324_A327del 0.02 0.026 0.031 7 23 10 0.018 9 0 2 1 0 61906 chr4 185339801 185339801 G A rs148758064 IRF2 Synonymous SNV C83C 0.005 0.016 0 1 6 6 0.003 0 0 0 0 0 11.26 61907 chr3 39225585 39225585 C T rs146284335 XIRP1 Nonsynonymous SNV M467I 0.015 0.005 0.014 2 18 2 0.005 4 1 0 0 0 Benign 13.59 61908 chr3 39229011 39229011 C T rs74827471 XIRP1 Synonymous SNV R642R 0.015 0.005 0.014 2 18 2 0.005 4 1 0 0 0 Benign 11.45 61909 chr15 52073262 52073262 T G TMOD2 Nonsynonymous SNV V172G 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 17.57 61910 chr3 190167564 190167564 G A rs141346662 TMEM207 Nonsynonymous SNV A12V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.091 61911 chr16 57735868 57735868 G A rs116262472 DRC7 Synonymous SNV S175S 0.007 0 0 0 8 0 0 0 0 0 0 0 12.88 61912 chr16 23570881 23570881 A G UBFD1 Nonsynonymous SNV I150V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 10.38 61913 chr16 23695383 23695383 C A rs150139246 PLK1 Synonymous SNV R337R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 22.8 61914 chr3 40503506 40503506 C T rs148931839 RPL14 Nonsynonymous SNV P144L 0.022 0.026 0.014 8 26 10 0.021 4 0 0 0 0 14.14 61915 chr4 186382305 186382305 C T rs141194686 CCDC110 Synonymous SNV S82S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 17.24 61916 chr12 124317874 124317874 C T rs78764267 DNAH10 Synonymous SNV L1469L 0.049 0.042 0.061 23 57 16 0.059 18 1 1 0 0 10.64 61917 chr16 25239809 25239809 G A rs111840156 AQP8 Nonsynonymous SNV R261Q 0.049 0.052 0.024 20 58 20 0.051 7 1 0 0 1 11.21 61918 chr15 53081859 53081859 G C rs74805019 ONECUT1 Nonsynonymous SNV P75A 0.015 0.01 0 5 18 4 0.013 0 0 0 0 0 9.13 61919 chr16 58074601 58074601 C T rs141397712 MMP15 Synonymous SNV Y303Y 0.004 0 0 0 5 0 0 0 0 0 0 0 10.71 61920 chr12 124870315 124870315 G A rs376278752 NCOR2 Synonymous SNV I664I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.41 61921 chr16 24946807 24946807 C T rs9921633 ARHGAP17 Synonymous SNV P548P 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 11.47 61922 chr12 12509865 12509865 C T rs11054842 LOH12CR2 0 0 0.061 0 0 0 0 18 0 0 0 0 3.126 61923 chr4 40245150 40245150 T C rs76788449 RHOH Synonymous SNV D48D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 0.374 61924 chr3 9787527 9787527 C T rs17050543 BRPF1 Synonymous SNV G978G 0.065 0.055 0.037 18 76 21 0.046 11 2 1 0 0 10.47 61925 chr12 125397061 125397061 G A rs17840844 UBC Synonymous SNV D419D 0.05 0.068 0.299 4 59 26 0.01 88 19 10 27 1 Benign 0.256 61926 chr16 25258629 25258629 G A rs149436235 ZKSCAN2 Synonymous SNV N296N 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 0.019 61927 chr4 187455329 187455329 G A rs8192549 MTNR1A Synonymous SNV I189I 0.017 0.013 0.02 5 20 5 0.013 6 2 0 0 0 6.519 61928 chr15 57384061 57384061 A G rs34560099 TCF12 Synonymous SNV P99P 0.017 0.016 0.01 5 20 6 0.013 3 2 0 0 0 Benign 7.016 61929 chr16 28847720 28847720 G A rs755564486 ATXN2L Synonymous SNV P1071P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.561 61930 chr12 125461976 125461976 C T rs33931896 DHX37 Nonsynonymous SNV E267K 0.043 0.047 0.037 24 51 18 0.062 11 3 1 0 0 29.3 61931 chr3 42784480 42784480 A G CCDC13 Nonsynonymous SNV S299P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 61932 chr16 28925724 28925724 C T rs745787339 RABEP2 Nonsynonymous SNV V243I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.259 61933 chr4 185138911 185138911 G A rs201609614 ENPP6 Nonsynonymous SNV S21F 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 12.72 61934 chr15 59911217 59911217 C G rs62014427 GCNT3 Nonsynonymous SNV H260Q 0.024 0.029 0.034 11 28 11 0.028 10 0 0 1 0 0.041 61935 chr4 185650132 185650132 C A CENPU Nonsynonymous SNV V52F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.68 61936 chr15 60794974 60794974 C T rs140807738 RORA Nonsynonymous SNV V335I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.13 61937 chr4 42895308 42895308 G A rs78136490 GRXCR1 Nonsynonymous SNV E9K 0.039 0.021 0.051 24 46 8 0.062 15 0 0 0 0 Benign/Likely benign 12.36 61938 chr12 13128263 13128263 C G rs1941 HEBP1 Nonsynonymous SNV E183D 0.021 0.013 0.061 11 25 5 0.028 18 0 0 0 0 26.5 61939 chr4 437221 437221 G A rs114734668 ZNF721 Synonymous SNV S345S 0.06 0.06 0.037 24 71 23 0.062 11 2 0 1 1 7.481 61940 chr4 438067 438067 C T rs73070365 ZNF721 Synonymous SNV K63K 0.061 0.063 0.017 24 72 24 0.062 5 2 0 1 1 8.727 61941 chr12 13136930 13136930 A G rs758276798 GPRC5D-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.389 61942 chr4 2233709 2233709 A G rs11937432 HAUS3 Nonsynonymous SNV I586T 0.078 0.042 0.017 22 92 16 0.056 5 3 0 0 1 17.72 61943 chr3 44943164 44943164 G A rs139860990 TGM4 Stop gain W269X 0.024 0.021 0.037 10 28 8 0.026 11 0 0 0 0 34 61944 chr16 30734930 30734930 G A SRCAP Synonymous SNV L1395L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.15 61945 chr15 63908025 63908025 T C HERC1 Nonsynonymous SNV N4679S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 25.8 61946 chr12 132326242 132326242 C T rs17854024 MMP17 Synonymous SNV A260A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 11.97 61947 chr3 196215499 196215499 T C RNF168 Synonymous SNV E119E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.529 61948 chr16 30980700 30980700 G C rs373299816 SETD1A Nonsynonymous SNV G949R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.41 61949 chr16 31089532 31089532 A T rs72785532 ZNF646 Synonymous SNV S629S 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 0.001 61950 chr15 64792103 64792103 A G rs370778220 ZNF609 Nonsynonymous SNV N162S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 1.537 61951 chr12 133198293 133198293 C T rs148054613 P2RX2 Nonsynonymous SNV P312L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 61952 chr12 133291510 133291510 G T rs146099818 PGAM5 Synonymous SNV A86A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 61953 chr4 52938281 52938281 G C rs1051926894 SPATA18 Nonsynonymous SNV E14D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.1 61954 chr12 133297338 133297338 G A rs974833110 PGAM5 Nonsynonymous SNV R265Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 61955 chr4 26750117 26750117 C T rs368501527 TBC1D19 Synonymous SNV I403I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.59 61956 chr4 1902579 1902579 C T rs140040537 NSD2 Synonymous SNV N66N 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 12.88 61957 chr4 1936970 1936970 A G NSD2 Nonsynonymous SNV D552G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 61958 chr4 2934168 2934168 T C rs748324046 MFSD10 Synonymous SNV E201E 0.003 0.003 0 8 4 1 0.021 0 0 0 0 1 0.014 61959 chr12 13526328 13526328 G T rs17821405 LINC01559 0 0 0.262 0 0 0 0 77 0 0 6 0 0.588 61960 chr15 66030189 66030189 C T rs200649914 DENND4A Nonsynonymous SNV G299E 0.017 0.008 0.003 6 20 3 0.015 1 0 0 0 0 11.39 61961 chr4 22389806 22389806 C T rs771076973 ADGRA3 Nonsynonymous SNV R1163Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 27.5 61962 chr16 48221331 48221331 C T rs375180799 ABCC11 Nonsynonymous SNV R905H 0.002 0 0 0 2 0 0 0 0 0 0 0 21 61963 chr15 66273187 66273187 G T rs145333107 MEGF11 Nonsynonymous SNV R231S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 23.3 61964 chr3 46724750 46724750 C T rs368302960 ALS2CL Nonsynonymous SNV V327M 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 12.07 61965 chr16 52473449 52473449 G T rs117772184 TOX3 Synonymous SNV I473I 0.011 0.01 0.003 0 13 4 0 1 0 0 0 0 1.978 61966 chr15 66850362 66850362 C T rs1030986 LCTL Nonsynonymous SNV A67T 0.024 0.018 0.02 7 28 7 0.018 6 1 0 0 0 23.5 61967 chr16 54319850 54319850 G A rs538043692 IRX3 Nonsynonymous SNV A38V 0.009 0.023 0.003 3 11 9 0.008 1 0 0 0 0 12.24 61968 chr16 53639438 53639438 C T rs3213758 RPGRIP1L Nonsynonymous SNV D1184N 0.036 0.049 0.054 22 42 19 0.056 16 0 1 0 0 Benign/Likely benign 15.72 61969 chr16 54319851 54319851 C A rs556340325 IRX3 Nonsynonymous SNV A38S 0.009 0.023 0.003 3 11 9 0.008 1 0 0 0 0 6.325 61970 chr15 69003913 69003913 G A rs36077420 CORO2B Synonymous SNV P167P 0.042 0.042 0.075 22 49 16 0.056 22 4 1 2 2 13.81 61971 chr12 1908849 1908849 A G rs55971855 CACNA2D4 Nonsynonymous SNV F996S 0.009 0.016 0.027 2 10 6 0.005 8 0 0 0 0 Benign 15.54 61972 chr4 108969883 108969883 G A rs4365796 LEF1 Nonsynonymous SNV T369M 0.006 0.013 0 0 7 5 0 0 0 0 0 0 12.55 61973 chr3 36893686 36893686 A G rs373039567 TRANK1 Nonsynonymous SNV L1523P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 61974 chr16 55516916 55516916 G A MMP2 Synonymous SNV L33L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.425 61975 chr3 47455419 47455419 G A rs112830289 SCAP Synonymous SNV N999N 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 Benign 7.344 61976 chr3 37067357 37067357 G A rs370687064 MLH1 Nonsynonymous SNV R65K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.654 61977 chr4 38775794 38775794 A G rs11466657 TLR10 Nonsynonymous SNV I473T 0.072 0.078 0.061 26 84 30 0.067 18 3 1 0 0 13.36 61978 chr16 55562410 55562410 C T rs376754389 LPCAT2 Nonsynonymous SNV P145S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 29.7 61979 chr4 3123074 3123074 C T rs1065745 HTT Synonymous SNV T396T 0.02 0.029 0.044 8 23 11 0.021 13 0 0 0 0 13 61980 chr3 38047428 38047428 T C rs142814627 VILL Nonsynonymous SNV I496T 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 3.144 61981 chr15 71507543 71507543 G A rs999302233 THSD4 Nonsynonymous SNV G90D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.053 61982 chr3 38307656 38307656 G A rs113229654 SLC22A13 Nonsynonymous SNV R102H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 17.82 61983 chr3 48716065 48716065 G A rs142430903 NCKIPSD Nonsynonymous SNV H633Y 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 22.5 61984 chr12 21690035 21690035 C G rs117639846 GYS2 Nonsynonymous SNV Q655H 0.048 0.052 0.078 18 56 20 0.046 23 1 0 2 0 Conflicting interpretations of pathogenicity 10.45 61985 chr3 48716573 48716573 G C NCKIPSD Synonymous SNV V538V 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 2.948 61986 chr4 39450305 39450305 A G rs146348775 KLB Synonymous SNV X1045X 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 0.484 61987 chr3 49049636 49049636 G C rs775284091 WDR6 Nonsynonymous SNV L197F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 61988 chr16 56686916 56686916 C T MT1B Nonsynonymous SNV A42V 0 0 0 3 0 0 0.008 0 0 0 0 0 24.2 61989 chr16 56902213 56902213 G A rs374324018 SLC12A3 Nonsynonymous SNV R145H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely pathogenic 34 61990 chr3 38565576 38565576 G T rs1141223 EXOG Nonsynonymous SNV G227V 0.01 0.005 0.007 1 12 2 0.003 2 0 0 0 0 28.5 61991 chr3 49163437 49163437 G A rs147076626 LAMB2 Synonymous SNV L769L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.168 61992 chr12 24970966 24970966 G A rs117200620 BCAT1 Synonymous SNV S318S 0.02 0.023 0.024 14 23 9 0.036 7 0 0 0 0 14.9 61993 chr4 6865859 6865859 T G rs528329904 KIAA0232 Nonsynonymous SNV C1250W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27 61994 chr3 49699168 49699168 A G rs141288834 BSN Nonsynonymous SNV D3297G 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 12.27 61995 chr15 74425410 74425410 T C rs3743207 ISLR2 Synonymous SNV D105D 0.037 0.021 0.044 14 43 8 0.036 13 1 0 0 1 0.042 61996 chr3 39180100 39180100 G A rs80238762 TTC21A Nonsynonymous SNV E1243K 0.019 0.039 0.014 3 22 15 0.008 4 1 0 0 0 29 61997 chr15 74425505 74425505 C T rs3889598 ISLR2 Nonsynonymous SNV S137F 0.036 0.021 0.037 13 42 8 0.033 11 1 0 0 0 22.8 61998 chr16 57147274 57147274 C T rs13334474 CPNE2 Synonymous SNV F85F 0.02 0.023 0.034 12 24 9 0.031 10 1 1 0 1 13.61 61999 chr3 39225916 39225916 G A rs201915775 XIRP1 Nonsynonymous SNV S357F 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 32 62000 chr12 2760898 2760898 C T rs56180838 CACNA1C Synonymous SNV I1335I 0.036 0.049 0.082 20 42 19 0.051 24 1 1 1 1 Benign 15.55 62001 chr3 49899525 49899525 G T rs762723290 CAMKV Synonymous SNV G60G 0.003 0 0 0 4 0 0 0 0 0 0 0 3.428 62002 chr3 39228081 39228081 C T rs147804386 XIRP1 Synonymous SNV P952P 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 Benign 2.064 62003 chr4 42457545 42457545 G A rs61735691 ATP8A1 Synonymous SNV N882N 0.041 0.055 0.065 11 48 21 0.028 19 1 0 0 0 5.731 62004 chr16 57717852 57717852 G A rs200448755 ADGRG3 Nonsynonymous SNV R177Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.08 62005 chr12 28636997 28636997 G A rs183056381 CCDC91 Nonsynonymous SNV A210T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 62006 chr15 75182424 75182424 C T rs143982014 MPI Nonsynonymous SNV P4S 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.515 62007 chr4 40103817 40103817 G A rs61748746 N4BP2 Nonsynonymous SNV E118K 0.053 0.057 0.058 19 62 22 0.049 17 4 0 1 1 23.4 62008 chr4 40123790 40123790 T G rs61748749 N4BP2 Nonsynonymous SNV S1353R 0.052 0.057 0.058 18 61 22 0.046 17 4 0 1 1 11.98 62009 chr4 47570876 47570876 G A rs17462252 ATP10D Nonsynonymous SNV S959N 0.042 0.036 0.037 23 49 14 0.059 11 2 0 0 0 8.968 62010 chr16 58313656 58313656 A G rs371518457 CCDC113 Nonsynonymous SNV Q316R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 19.18 62011 chr12 30948824 30948824 G C rs73082102 LINC00941 0 0 0.255 0 0 0 0 75 0 0 11 0 11.59 62012 chr15 75651981 75651981 G A rs78610801 MAN2C1 Nonsynonymous SNV P544L 0.017 0.016 0.007 9 20 6 0.023 2 0 0 0 0 10.08 62013 chr15 77348407 77348407 G A rs143800573 TSPAN3 Nonsynonymous SNV T85M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.7 62014 chr15 77906890 77906890 C T rs370042281 LINGO1 Synonymous SNV P453P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.32 62015 chr3 52420842 52420842 C G rs372111356 DNAH1 Nonsynonymous SNV F2992L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 62016 chr16 66638804 66638804 G A rs3743718 CMTM3 Synonymous SNV P32P 0.026 0.042 0.02 17 31 16 0.044 6 1 0 0 0 12.33 62017 chr4 48859320 48859320 C T rs112327139 OCIAD1 Nonsynonymous SNV S213F 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 24.3 62018 chr12 32458756 32458756 C T rs11051922 BICD1 Synonymous SNV L235L 0.014 0.013 0.014 2 17 5 0.005 4 0 0 0 0 14.08 62019 chr12 32480886 32480886 T C rs12369637 BICD1 Synonymous SNV S499S 0.014 0.013 0.014 2 17 5 0.005 4 0 0 0 0 0.073 62020 chr4 74964603 74964603 A C CXCL2 Nonsynonymous SNV L46W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 62021 chr16 67166731 67166731 G A rs34017457 C16orf70 Nonsynonymous SNV A95T 0.013 0.021 0.01 6 15 8 0.015 3 0 0 0 0 21.8 62022 chr4 42895423 42895423 C T rs57655409 GRXCR1 Nonsynonymous SNV A47V 0.065 0.052 0.071 25 76 20 0.064 21 1 1 0 1 Benign 20.7 62023 chr16 67229794 67229811 CAGCAGCAGCAGCAGCAG - rs562856782 E2F4 S314_S319del 0.009 0.016 0.007 6 11 6 0.015 2 0 0 0 0 62024 chr4 52945957 52945957 T C rs142966719 SPATA18 Synonymous SNV P184P 0.005 0.003 0.003 8 6 1 0.021 1 0 0 0 0 5.108 62025 chr16 67763231 67763231 T A rs756625027 RANBP10 Nonsynonymous SNV D318V 0.009 0 0 2 10 0 0.005 0 0 0 0 0 25.2 62026 chr4 53610955 53610955 G A rs140180540 ERVMER34-1 Nonsynonymous SNV R245C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26.1 62027 chr15 79310238 79310238 G A rs139426512 RASGRF1 Synonymous SNV S539S 0.015 0.029 0 7 18 11 0.018 0 0 0 0 0 Benign 11.39 62028 chr3 44285300 44285300 G A rs144334708 TOPAZ1 Synonymous SNV P434P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.036 62029 chr16 67516605 67516605 G C rs34730014 AGRP Synonymous SNV R111R 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 Benign 8.502 62030 chr3 44670753 44670753 C T rs142398783 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV S36F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 62031 chr4 55156496 55156496 A G rs200042995 PDGFRA Nonsynonymous SNV H966R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 18.92 62032 chr16 67680806 67680806 G A rs117556162 CARMIL2 Nonsynonymous SNV V181M 0.02 0.023 0.017 3 24 9 0.008 5 0 0 0 0 25.2 62033 chr16 67859940 67859940 C T rs1027064328 TSNAXIP1 Nonsynonymous SNV R23C 0.009 0.013 0 4 11 5 0.01 0 0 0 0 0 33 62034 chr16 68713815 68713815 A C rs36038900 CDH3 Nonsynonymous SNV M214L 0.02 0.013 0.003 6 24 5 0.015 1 1 0 0 0 Benign/Likely benign 23.1 62035 chr12 47581629 47581629 T C rs832733 MIR4698 0 0 0.629 0 0 0 0 185 0 0 74 0 1.383 62036 chr12 48090118 48090118 G A rs12368459 RPAP3 Synonymous SNV A3A 0.013 0.005 0.024 8 15 2 0.021 7 0 0 0 0 11.19 62037 chr4 517600 517600 C T rs61749092 PIGG Nonsynonymous SNV A523V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 22.4 62038 chr4 52860789 52860803 TCAGATCTATCAGTG - rs552894125 LRRC66 D795_S799del 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 62039 chr4 52917913 52917913 C A rs111604705 SPATA18 Synonymous SNV R15R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.64 62040 chr3 57232242 57232242 T C rs28936704 HESX1 Nonsynonymous SNV T181A 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 4.633 62041 chr4 139993175 139993175 G A rs17322140 ELF2 Nonsynonymous SNV P64L 0.003 0.008 0.003 8 4 3 0.021 1 0 0 0 0 20.7 62042 chr16 68719119 68719119 T C rs138190335 CDH3 Nonsynonymous SNV L424P 0.01 0.013 0.003 4 12 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 62043 chr12 48866585 48866585 A C rs7956679 ANP32D Nonsynonymous SNV L46F 0.032 0.029 0.061 15 37 11 0.038 18 0 1 2 1 0.002 62044 chr12 48866792 48866792 C T rs7966826 ANP32D Synonymous SNV L115L 0.032 0.029 0.061 15 37 11 0.038 18 0 1 2 1 16.61 62045 chr4 5624704 5624704 A G rs73198153 EVC2 Synonymous SNV R607R 0.066 0.055 0.105 28 78 21 0.072 31 5 3 2 1 Benign 0.009 62046 chr16 70711707 70711707 G A rs140332054 MTSS2 Synonymous SNV P240P 0.01 0.01 0.007 4 12 4 0.01 2 0 0 0 0 14.64 62047 chr3 46399126 46399126 C T rs778812407 CCR2 Synonymous SNV D36D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.819 62048 chr12 48920006 48920006 G A rs12425518 OR8S1 Nonsynonymous SNV A198T 0.037 0.031 0.061 16 43 12 0.041 18 0 2 2 1 11.18 62049 chr3 62257105 62257105 C G PTPRG Nonsynonymous SNV I1019M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 20.9 62050 chr4 57356558 57356558 T C rs73818109 SRP72 Synonymous SNV Y399Y 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 2.977 62051 chr16 71885173 71885173 C T rs149640121 ATXN1L Synonymous SNV V510V 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 12.37 62052 chr12 49724015 49724015 C T rs758928739 TROAP Synonymous SNV L463L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 62053 chr3 69230224 69230224 C A rs192984298 FRMD4B Nonsynonymous SNV A893S 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Likely benign 29.5 62054 chr15 86163336 86163336 A G rs562375295 AKAP13 Nonsynonymous SNV H5R 0.014 0.013 0.014 1 17 5 0.003 4 0 0 0 0 23 62055 chr16 72170628 72170628 C T rs149368238 PMFBP1 Nonsynonymous SNV E337K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.1 62056 chr3 47451678 47451678 C T rs137987776 PTPN23 Nonsynonymous SNV S671L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22 62057 chr4 68499985 68499985 T C rs145837626 UBA6 Nonsynonymous SNV Y663C 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 22.9 62058 chr16 72993860 72993860 G A rs62639999 ZFHX3 Nonsynonymous SNV A62V 0.03 0.01 0.024 14 35 4 0.036 7 1 0 0 0 14.97 62059 chr4 62758596 62758596 C T rs76798812 ADGRL3 Nonsynonymous SNV A495V 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 25.3 62060 chr15 89182702 89182702 T C rs35008759 ISG20 Synonymous SNV G35G 0.019 0.01 0.017 6 22 4 0.015 5 0 0 0 0 0.204 62061 chr3 87018099 87018099 T A rs79345443 VGLL3 Nonsynonymous SNV H193L 0.015 0.008 0.017 5 18 3 0.013 5 1 0 0 0 24.3 62062 chr16 88798869 88798869 C T rs35597347 PIEZO1 Synonymous SNV Q955Q 0.01 0.021 0.014 14 12 8 0.036 4 0 1 0 0 Benign 13.52 62063 chr16 88800372 88800372 - TCC rs577469073 PIEZO1 E756_D757insE 0.011 0.016 0.007 14 13 6 0.036 2 0 1 1 0 62064 chr3 49051105 49051105 T C rs369371226 WDR6 Nonsynonymous SNV I687T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.4 62065 chr16 75654536 75654536 C T rs117176260 ADAT1 Synonymous SNV P54P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.68 62066 chr16 75665388 75665388 C T rs149772470 KARS1 Nonsynonymous SNV R393Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 62067 chr4 862363 862363 C A rs34585705 GAK Nonsynonymous SNV D708Y 0.01 0.013 0.01 8 12 5 0.021 3 0 0 0 0 24.1 62068 chr16 76482001 76482001 A G rs35363016 CNTNAP4 Nonsynonymous SNV K82E 0.018 0.018 0.017 7 21 7 0.018 5 0 0 0 0 27.1 62069 chr12 51585471 51585471 G T rs150600315 POU6F1 Synonymous SNV I466I 0 0 0.007 0 0 0 0 2 0 0 0 0 11.46 62070 chr3 49463786 49463786 T C rs142395210 NICN1 Nonsynonymous SNV T70A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.001 62071 chr3 49691856 49691856 G A rs200708484 BSN Nonsynonymous SNV A1623T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 0.005 62072 chr16 89017167 89017167 C G rs12924553 LOC100129697 Nonsynonymous SNV A214G 0.053 0.063 0.034 24 62 24 0.062 10 4 2 2 2 2.739 62073 chr3 49720357 49720357 G A rs41290718 APEH Synonymous SNV S655S 0.003 0.005 0.014 5 3 2 0.013 4 0 0 0 0 11.55 62074 chr4 71509314 71509314 C T rs3796703 ENAM Nonsynonymous SNV P506L 0.004 0.016 0.003 4 5 6 0.01 1 0 0 0 1 Benign 9.156 62075 chr12 52638988 52638988 C T rs2608008 KRT7-AS 0 0 0.738 0 0 0 0 217 0 0 92 0 1.983 62076 chr4 6865727 6865727 G A rs776651797 KIAA0232 Synonymous SNV K1206K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.85 62077 chr4 88929305 88929305 G A rs2728118 PKD2 Synonymous SNV G140G 0.026 0.026 0.031 14 30 10 0.036 9 0 1 0 1 Benign/Likely benign 9.546 62078 chr15 90210333 90210333 G A rs8179071 PLIN1 Nonsynonymous SNV S348L 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 Benign 31 62079 chr4 159894277 159894277 T C rs17037858 C4orf45 Nonsynonymous SNV Y84C 0.03 0.039 0.031 17 35 15 0.044 9 1 0 1 1 9.783 62080 chr3 50289969 50289969 C T rs112497464 GNAI2 Nonsynonymous SNV A20V 0.004 0.003 0.01 7 5 1 0.018 3 0 0 0 0 Uncertain significance 16.61 62081 chr3 98518339 98518339 C T rs75797963 DCBLD2 Synonymous SNV P735P 0.031 0.018 0.014 10 36 7 0.026 4 1 0 0 0 13.95 62082 chr15 90293806 90293806 C A rs2305439 MESP1 Synonymous SNV P219P 0.059 0.063 0.024 19 69 24 0.049 7 4 0 0 0 15.34 62083 chr12 52967436 52967436 G A rs11836189 KRT74 Synonymous SNV G42G 0.08 0.07 0.102 36 94 27 0.092 30 2 0 0 2 4.341 62084 chr4 70462042 70462042 C T rs4148301 UGT2A1, UGT2A2 Nonsynonymous SNV G317R 0.137 0.117 0.109 61 161 45 0.156 32 18 5 3 2 34 62085 chr12 52994896 52994896 A G rs56207115 KRT72 Nonsynonymous SNV M114T 0.037 0.021 0.027 15 43 8 0.038 8 0 0 0 1 23.3 62086 chr12 52995020 52995020 C T rs57242225 KRT72 Nonsynonymous SNV G73S 0.037 0.018 0.031 15 43 7 0.038 9 0 0 0 1 25.9 62087 chr12 53010024 53010024 C T rs61736101 KRT73 Synonymous SNV T196T 0.037 0.021 0.027 15 43 8 0.038 8 0 0 0 1 11.68 62088 chr4 169299627 169299627 C T rs192148683 DDX60L 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 9.27 62089 chr3 52021045 52021045 C T rs140738368 ABHD14A-ACY1, ACY1 Nonsynonymous SNV R137C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.5 62090 chr15 90771256 90771256 C T rs116125380 SEMA4B Nonsynonymous SNV S494L 0.005 0.01 0 0 6 4 0 0 0 0 0 0 23 62091 chr16 80642076 80642076 C T rs117351184 CDYL2 Synonymous SNV R425R 0.019 0.01 0.01 8 22 4 0.021 3 0 0 0 0 17.88 62092 chr4 169317279 169317279 C T rs3857035 DDX60L 0.033 0.016 0.371 15 39 6 0.038 109 19 3 38 7 0.633 62093 chr4 951791 951791 T C rs80114247 TMEM175 Nonsynonymous SNV M259T 0.028 0.031 0.034 14 33 12 0.036 10 0 0 0 1 23.5 62094 chr4 95506827 95506827 G A rs11722955 PDLIM5 Synonymous SNV R152R 0.034 0.044 0.071 15 40 17 0.038 21 0 1 0 0 11.84 62095 chr3 52394055 52394055 G A rs61734638 DNAH1 Nonsynonymous SNV V1511M 0.018 0.021 0.037 11 21 8 0.028 11 0 0 0 0 Benign 27 62096 chr3 52409413 52409413 C G rs144580984 DNAH1 Nonsynonymous SNV I2381M 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 Benign 25.5 62097 chr4 95972917 95972917 A G rs772519413 BMPR1B Nonsynonymous SNV T23A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.07 62098 chr3 52424953 52424953 C T rs61734628 DNAH1 Synonymous SNV I3208I 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 Benign 11.57 62099 chr16 81946278 81946278 A G rs150833842 PLCG2 Nonsynonymous SNV I671V 0.012 0.023 0.01 8 14 9 0.021 3 0 0 0 0 Benign 4.682 62100 chr3 52507782 52507782 G A rs56114678 NISCH Synonymous SNV G234G 0.026 0.023 0.024 11 30 9 0.028 7 0 0 0 1 11.3 62101 chr12 53189414 53189431 CCAAAGCCACCAGCCCCT - rs148531142 KRT3 A134_G139del 0.01 0.005 0.027 6 12 2 0.015 8 0 0 0 0 62102 chr4 983221 983221 G A rs753883088 SLC26A1 Synonymous SNV A502A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.189 62103 chr4 100460518 100460518 A T rs754598695 C4orf17 Nonsynonymous SNV Q276L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.6 62104 chr4 78830434 78830434 G C rs1801350 MRPL1 Nonsynonymous SNV D229H 0.034 0.039 0.034 23 40 15 0.059 10 2 0 1 0 26.6 62105 chr3 52545746 52545746 C T rs369834953 STAB1 Synonymous SNV G956G 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 12.09 62106 chr16 83941821 83941821 G A rs2278038 MLYCD Synonymous SNV S244S 0.027 0.031 0.007 9 32 12 0.023 2 1 1 0 0 Benign 3.088 62107 chr12 53439139 53439139 T A rs12368925 LOC283335 0 0 0.571 0 0 0 0 168 0 0 47 0 4.98 62108 chr4 102816560 102816560 A G rs150616221 BANK1 Synonymous SNV Q201Q 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 0.189 62109 chr4 74277800 74277800 G A rs11538224 ALB Synonymous SNV T267T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.18 62110 chr3 52726942 52726942 C G rs147065672 GNL3 Nonsynonymous SNV S308R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.4 62111 chr3 52780205 52780205 A G rs34986855 NEK4 Nonsynonymous SNV F478L 0.024 0.023 0.024 7 28 9 0.018 7 0 0 0 0 0.002 62112 chr16 84225119 84225119 C G ADAD2 Nonsynonymous SNV P95A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.35 62113 chr4 74354363 74354363 A C rs773595643 AFM Nonsynonymous SNV S244R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 62114 chr3 52954555 52954555 C T rs752497833 SFMBT1 Nonsynonymous SNV R457Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.3 62115 chr4 10445207 10445207 T C rs75487798 ZNF518B Nonsynonymous SNV I916V 0.013 0.018 0.024 4 15 7 0.01 7 0 0 0 0 0.654 62116 chr12 53800369 53800369 G A rs149625987 SP1 Nonsynonymous SNV G511D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.6 62117 chr4 79786856 79786856 G A rs2288255 BMP2K Nonsynonymous SNV G405S 0.072 0.073 0.034 24 85 28 0.062 10 2 1 1 0 2.231 62118 chr4 79800080 79800080 G A rs10518205 BMP2K Synonymous SNV Q662Q 0.072 0.068 0.034 23 84 26 0.059 10 2 1 1 0 16.38 62119 chr12 54394284 54394284 C T rs34079606 HOXC9 Synonymous SNV V104V 0.013 0.018 0.01 4 15 7 0.01 3 0 0 0 0 10.74 62120 chr16 84212874 84212874 C T TAF1C Synonymous SNV S429S 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 11.94 62121 chr12 55039035 55039035 C T rs36031159 DCD Nonsynonymous SNV D71N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.12 62122 chr5 1081855 1081855 G A rs148022833 SLC12A7 Synonymous SNV N378N 0.013 0.01 0.017 2 15 4 0.005 5 0 0 0 0 Benign 5.24 62123 chr15 100252893 100252893 A G rs111748677 MEF2A Nonsynonymous SNV I403V 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 0 Benign 0.002 62124 chr3 55043415 55043415 G T rs142687394 CACNA2D3 Nonsynonymous SNV L940F 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 22.6 62125 chr3 56330368 56330368 C T rs56227347 ERC2 Synonymous SNV A251A 0.028 0.029 0.024 12 33 11 0.031 7 1 0 0 0 8.79 62126 chr4 1808981 1808981 C T rs369758941 FGFR3 Nonsynonymous SNV R693W 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 Uncertain significance 23.5 62127 chr4 107845198 107845198 G A rs34830201 DKK2 Synonymous SNV C231C 0.024 0.021 0.034 14 28 8 0.036 10 3 0 0 0 6.533 62128 chr4 83294793 83294793 - GCCGCC rs770021782 HNRNPD A15_T16insAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 62129 chr4 107847043 107847043 C G rs35290077 DKK2 Nonsynonymous SNV G96R 0.024 0.021 0.034 14 28 8 0.036 10 3 0 0 0 33 62130 chr4 77204610 77204610 A G rs573597519 FAM47E X394W 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 14.14 62131 chr16 84492984 84492984 G A rs7187624 ATP2C2 Synonymous SNV P624P 0.013 0.026 0.034 5 15 10 0.013 10 0 0 0 0 4.791 62132 chr3 57898929 57898929 G A rs147989677 SLMAP Nonsynonymous SNV E140K 0.008 0.005 0 7 9 2 0.018 0 0 0 0 0 Uncertain significance 29.7 62133 chr16 86575716 86575716 G A rs530887125 MTHFSD Synonymous SNV H182H 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 10.09 62134 chr3 58121848 58121848 G A rs201630300 FLNB Nonsynonymous SNV R1605H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 62135 chr4 84216649 84216649 G A rs144185023 HPSE Stop gain Q420X 0.005 0.005 0.003 8 6 2 0.021 1 0 0 0 0 35 62136 chr16 87637725 87637725 C G JPH3 Nonsynonymous SNV A138G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.32 62137 chr16 87678402 87678402 C T rs35304352 JPH3 Synonymous SNV D307D 0.001 0.005 0.01 5 1 2 0.013 3 0 0 0 0 Benign 9.32 62138 chr3 58552997 58552997 C A rs1043942 FAM107A Nonsynonymous SNV A89S 0.072 0.078 0.054 29 85 30 0.074 16 5 1 1 2 25.5 62139 chr15 102358451 102358451 G A rs142759394 OR4F15 Nonsynonymous SNV R21Q 0.025 0.013 0.007 4 29 5 0.01 2 0 0 0 0 12.65 62140 chr5 114952011 114952011 T A rs1058047 TMED7 Synonymous SNV S190S 0.028 0.018 0.02 8 33 7 0.021 6 1 0 0 0 13.47 62141 chr12 56818922 56818922 C T rs774050 TIMELESS Synonymous SNV K530K 0.055 0.06 0.054 15 64 23 0.038 16 0 1 0 0 17.92 62142 chr3 64587857 64587857 G A rs61754852 ADAMTS9 Synonymous SNV T1232T 0.009 0.005 0.02 3 11 2 0.008 6 0 0 0 0 Benign 11.7 62143 chr3 65415253 65415253 C T rs61754217 MAGI1 Synonymous SNV V703V 0.011 0.016 0.014 6 13 6 0.015 4 0 0 0 0 8.744 62144 chr16 87723568 87723568 G C rs200796473 JPH3 Nonsynonymous SNV E534D 0.015 0.018 0.014 8 18 7 0.021 4 0 0 0 1 0.06 62145 chr12 56827209 56827209 C A rs72478986 TIMELESS Nonsynonymous SNV A129S 0.005 0.008 0.014 3 6 3 0.008 4 0 0 0 0 Benign 22.9 62146 chr16 624101 624101 G A rs61753370 PIGQ Synonymous SNV T9T 0.011 0.008 0.02 3 13 3 0.008 6 0 0 0 0 Benign 12.32 62147 chr16 88503433 88503433 C G rs273585636 ZNF469 Synonymous SNV A3185A 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Likely benign 15.24 62148 chr4 8228943 8228943 G A rs34994651 SH3TC1 Nonsynonymous SNV A432T 0.089 0.089 0.095 31 105 34 0.079 28 7 3 0 1 4.068 62149 chr4 189067987 189067987 C T rs77324985 TRIML1 Synonymous SNV L290L 0.014 0.021 0.027 9 17 8 0.023 8 0 0 0 0 7.397 62150 chr4 121966916 121966916 T A NDNF Nonsynonymous SNV D26V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 62151 chr3 8677501 8677501 G A rs60723042 SSUH2 Nonsynonymous SNV P24L 0 0 0.014 1 0 0 0.003 4 0 0 0 0 Benign 27.1 62152 chr5 1232408 1232408 G A rs113861454 SLC6A18 Nonsynonymous SNV G79S 0.029 0.042 0.024 15 34 16 0.038 7 0 0 0 1 29.2 62153 chr5 123983954 123983954 T C rs141500782 ZNF608 Nonsynonymous SNV K708R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24 62154 chr3 8809795 8809795 G A OXTR Nonsynonymous SNV R27C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.91 62155 chr4 123113434 123113434 G A KIAA1109 Nonsynonymous SNV E318K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.1 62156 chr5 124080316 124080316 C T ZNF608 Nonsynonymous SNV A123T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.97 62157 chr5 1243873 1243873 T C rs149337877 SLC6A18 Synonymous SNV T445T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.01 62158 chr3 9408659 9408659 A G rs201935778 THUMPD3 Nonsynonymous SNV K107R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.84 62159 chr17 4648175 4648175 C T rs61743945 ZMYND15 Synonymous SNV S577S 0.029 0.013 0.027 10 34 5 0.026 8 0 0 0 0 12.2 62160 chr4 123747942 123747942 G C rs308400 FGF2 Synonymous SNV V4V 0.006 0.003 0 8 7 1 0.021 0 0 0 0 0 7.558 62161 chr16 88800396 88800398 CTG - rs144777557 PIEZO1 Q749del 0.089 0.081 0.014 27 104 31 0.069 4 6 2 1 0 62162 chr16 1779570 1779619 CGGGGCGGAGGTACGCGGGGCGCGGCGGGGTGGAGGTACGCGGGGCGCGG - rs759514260 MAPK8IP3 P198Rfs*8 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 62163 chr5 129520679 129520679 G A rs10068403 CHSY3 Nonsynonymous SNV G615E 0.013 0.013 0.017 1 15 5 0.003 5 1 0 0 0 0.005 62164 chr4 959063 959063 G A rs143484618 DGKQ Synonymous SNV D545D 0.034 0.052 0.037 14 40 20 0.036 11 2 1 1 0 2.94 62165 chr4 123900457 123900457 G T rs62324113 SPATA5 Synonymous SNV V594V 0.009 0.031 0.017 6 10 12 0.015 5 0 0 0 0 Benign 10.5 62166 chr4 870941 870941 T C rs41286651 GAK Synonymous SNV Q558Q 0.036 0.047 0.041 20 42 18 0.051 12 0 0 0 0 0.021 62167 chr4 126238090 126238090 G T rs143534324 FAT4 Nonsynonymous SNV R175L 0.01 0.01 0.007 3 12 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 62168 chr5 131007604 131007604 C T rs377590143 FNIP1 Nonsynonymous SNV E817K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 26 62169 chr16 1869147 1869147 G A rs56316151 HAGH Synonymous SNV P170P 0.024 0.023 0.027 9 28 9 0.023 8 0 0 0 0 8.573 62170 chr4 96761869 96761869 A G rs143994593 PDHA2 Nonsynonymous SNV T190A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.062 62171 chr4 2709969 2709969 C T rs112277114 FAM193A Nonsynonymous SNV S1199L 0.019 0.008 0.003 11 22 3 0.028 1 0 0 0 0 12.49 62172 chr4 87967331 87967331 G A rs767123281 AFF1 Nonsynonymous SNV D11N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 33 62173 chr17 4806314 4806314 G A rs34563587 CHRNE Synonymous SNV L15L 0.009 0 0.003 3 10 0 0.008 1 0 0 0 0 Benign 9.516 62174 chr16 89245890 89245890 G T rs2287359 CDH15 Nonsynonymous SNV A37S 0.103 0.104 0.088 33 121 40 0.085 26 7 2 0 1 Likely benign 0.001 62175 chr17 4844242 4844242 C T rs34430513 RNF167 Nonsynonymous SNV A13V 0.009 0 0.003 3 11 0 0.008 1 0 0 0 0 Benign 13.22 62176 chr4 126370709 126370709 C T rs139132509 FAT4 Synonymous SNV S2848S 0.005 0 0.014 0 6 0 0 4 0 0 0 0 Benign 12.93 62177 chr12 6626648 6626648 A G rs200578810 NCAPD2 Nonsynonymous SNV N435D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 62178 chr4 983625 983625 C T rs3796623 SLC26A1 Nonsynonymous SNV G368S 0.058 0.086 0.051 23 68 33 0.059 15 4 2 1 1 25.1 62179 chr12 66417482 66417482 G A rs11176006 MIR6074 0 0 0.303 0 0 0 0 89 0 0 12 0 3.335 62180 chr4 3076606 3076606 - CAGCAGCAG HTT Q38_P39insQQQ 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 62181 chr12 66417493 66417493 C A rs10878362 MIR6074 0 0 0.337 0 0 0 0 99 0 0 18 0 3.852 62182 chr16 89293281 89293281 G A rs74033442 ZNF778 Synonymous SNV E167E 0.022 0.023 0.007 8 26 9 0.021 2 0 0 0 0 5.206 62183 chr16 89293525 89293525 G A rs7201172 ZNF778 Nonsynonymous SNV V249I 0.022 0.023 0.007 8 26 9 0.021 2 0 0 0 0 0.162 62184 chr16 89293890 89293890 C T rs7197077 ZNF778 Synonymous SNV C370C 0.021 0.021 0.007 7 25 8 0.018 2 0 0 0 0 8.646 62185 chr16 89294044 89294044 A G rs74033443 ZNF778 Nonsynonymous SNV T422A 0.021 0.021 0.007 7 25 8 0.018 2 0 0 0 0 0.046 62186 chr5 132652324 132652324 C T rs753084443 FSTL4 Nonsynonymous SNV G144S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.82 62187 chr5 102295585 102295585 G A rs142765293 PAM Synonymous SNV T304T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.05 62188 chr4 3318412 3318412 C T rs139336898 RGS12 Nonsynonymous SNV S172L 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 26.8 62189 chr5 135272373 135272373 - A rs140125393 FBXL21P 0.054 0.06 0.061 18 63 23 0.046 18 1 2 0 0 62190 chr17 5424936 5424936 C T rs114529583 NLRP1 Nonsynonymous SNV V1201I 0.009 0.008 0.017 3 11 3 0.008 5 0 0 0 0 Benign 0.006 62191 chr5 135385251 135385251 G A rs202239395 TGFBI Nonsynonymous SNV D299N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 26.4 62192 chr4 135121721 135121721 T C rs116807401 PABPC4L Nonsynonymous SNV R152G 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 15.6 62193 chr12 69080616 69080616 A G rs12831591 LOC100507250 0 0 0.037 0 0 0 0 11 0 0 0 0 6.784 62194 chr16 89349527 89349527 G A rs142005632 ANKRD11 Synonymous SNV S1141S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 5.344 62195 chr16 89350911 89350911 G C rs145694621 ANKRD11 Nonsynonymous SNV T680S 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 Benign 0.042 62196 chr17 559113 559113 G A rs746064358 VPS53 Synonymous SNV H122H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 9.783 62197 chr5 110784900 110784900 C T rs199946284 CAMK4 Synonymous SNV C11C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.6 62198 chr16 89779140 89779142 GCT - rs111488775 VPS9D1-AS1 0.064 0.073 0.095 26 75 28 0.067 28 3 1 3 1 62199 chr16 89799950 89799950 C T rs17177891 ZNF276 Synonymous SNV G447G 0.033 0.018 0.034 9 39 7 0.023 10 1 0 1 0 13.42 62200 chr17 6674016 6674016 G A rs34625877 XAF1 Nonsynonymous SNV E118K 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 0.002 62201 chr16 89805914 89805914 T C rs9282681 FANCA Nonsynonymous SNV T1328A 0.033 0.021 0.034 10 39 8 0.026 10 1 0 1 0 Benign 0.005 62202 chr17 650372 650372 G A rs201643179 GEMIN4 Nonsynonymous SNV S304L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.3 62203 chr16 89815152 89815152 G A rs17233497 FANCA Nonsynonymous SNV S1088F 0.033 0.021 0.034 10 39 8 0.026 10 1 0 1 0 Benign 21.8 62204 chr5 138729872 138729872 A G PROB1 Nonsynonymous SNV L300P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 62205 chr17 934898 934898 G A rs9903778 ABR Synonymous SNV R28R 0.056 0.063 0.058 27 66 24 0.069 17 19 5 4 4 7.34 62206 chr12 71971766 71971766 C G rs138215571 LGR5 Nonsynonymous SNV L400V 0.013 0.01 0.034 5 15 4 0.013 10 0 0 0 0 Benign 26.6 62207 chr16 89825065 89825065 G A rs17226980 FANCA Synonymous SNV S967S 0.033 0.021 0.034 10 39 8 0.026 10 1 0 1 0 Benign 4.51 62208 chr16 3658876 3658876 G A rs118089506 SLX4 Synonymous SNV S30S 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 Benign 0.199 62209 chr16 3777746 3777746 C T rs144609433 CREBBP Synonymous SNV T2396T 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign/Likely benign 16.8 62210 chr16 89839766 89839766 G C rs17232910 FANCA Nonsynonymous SNV P643A 0.033 0.021 0.034 10 39 8 0.026 10 1 0 1 0 Benign 0.006 62211 chr17 6927504 6927504 C T rs115411695 BCL6B Synonymous SNV D94D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.3 62212 chr12 7520771 7520771 G A rs7961164 CD163L1 Synonymous SNV S1375S 0.028 0.039 0.044 15 33 15 0.038 13 1 3 0 0 3.503 62213 chr12 7521563 7521563 - GAGA rs756092467 CD163L1 0.027 0.042 0.031 16 32 16 0.041 9 1 0 0 0 62214 chr16 89857935 89857935 G A rs11646374 FANCA Nonsynonymous SNV A412V 0.033 0.021 0.034 10 39 8 0.026 10 1 0 1 0 Benign 23.2 62215 chr16 89858417 89858417 C A rs1800331 FANCA Synonymous SNV T381T 0.033 0.021 0.034 10 39 8 0.026 10 1 0 1 0 Benign 12.32 62216 chr17 1465837 1465837 C T rs142675143 PITPNA Synonymous SNV E6E 0.018 0.023 0.02 13 21 9 0.033 6 2 0 0 0 19.5 62217 chr16 89916879 89916879 - GAG rs146569219 SPIRE2 E157_A158insE 0.032 0.021 0.037 10 37 8 0.026 11 1 0 1 0 62218 chr16 89920957 89920957 A G rs12598737 SPIRE2 Synonymous SNV Q263Q 0.032 0.021 0.034 10 37 8 0.026 10 1 0 1 0 4.231 62219 chr16 89965055 89965055 G A rs11648433 TCF25 Synonymous SNV L371L 0.033 0.021 0.037 11 39 8 0.028 11 1 0 1 0 11.94 62220 chr4 148575453 148575453 G T PRMT9 Nonsynonymous SNV P227Q 0.005 0 0 0 6 0 0 0 0 0 0 0 1.862 62221 chr16 89985940 89985940 G A rs2228479 MC1R Nonsynonymous SNV V92M 0.033 0.021 0.037 11 39 8 0.028 11 1 0 1 0 Benign 1.411 62222 chr5 107559915 107559915 T C rs112049764 FBXL17 Synonymous SNV S507S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 4.911 62223 chr5 139227629 139227629 G C rs567807950 NRG2 Nonsynonymous SNV S743W 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 28 62224 chr4 15005250 15005250 A G CPEB2 Nonsynonymous SNV N318S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.05 62225 chr5 109941937 109941937 G A rs763386855 TMEM232 Synonymous SNV N318N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.78 62226 chr12 78604189 78604189 A G NAV3 Synonymous SNV L2328L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.639 62227 chr17 7319208 7319208 C T rs142497106 NLGN2 Synonymous SNV A472A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 15.59 62228 chr5 110456263 110456263 C G rs17624563 WDR36 Synonymous SNV V714V 0.11 0.102 0.119 48 129 39 0.123 35 11 1 1 2 Benign 8.885 62229 chr17 673330 673330 T C rs116072465 GLOD4 Nonsynonymous SNV D177G 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 62230 chr5 118485298 118485298 C T rs539203658 DMXL1 Nonsynonymous SNV T1259I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.19 62231 chr17 7329684 7329684 G A rs193081398 SPEM2 Nonsynonymous SNV R125H 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 0.183 62232 chr5 111754732 111754732 C T rs200648466 EPB41L4A Nonsynonymous SNV G2D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.9 62233 chr5 121758612 121758612 G A rs754791570 SNCAIP Synonymous SNV T60T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 10.49 62234 chr17 1939340 1939340 G A rs372069295 DPH1 Nonsynonymous SNV A124T 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 27.9 62235 chr16 8906914 8906914 A C rs34258285 PMM2 Nonsynonymous SNV E197A 0.031 0.021 0.02 3 36 8 0.008 6 0 0 0 0 Benign/Likely benign 14.24 62236 chr5 124080062 124080062 C A ZNF608 Synonymous SNV A207A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 62237 chr17 7671259 7671259 C A rs146539788 DNAH2 Nonsynonymous SNV D1239E 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 Benign 13.11 62238 chr12 8281910 8281910 C A rs149587652 CLEC4A Nonsynonymous SNV L45M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 62239 chr5 112770431 112770431 A G rs375540062 TSSK1B Nonsynonymous SNV F36L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.27 62240 chr4 110667451 110667451 G A CFI Synonymous SNV A445A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.998 62241 chr17 1637492 1637492 G A rs143022530 WDR81 Nonsynonymous SNV V518I 0.009 0.01 0.007 8 11 4 0.021 2 0 1 0 0 Benign/Likely benign 19.67 62242 chr12 86198594 86198594 A G rs11831336 RASSF9 Synonymous SNV T398T 0.02 0.01 0.027 4 24 4 0.01 8 0 0 0 0 0.017 62243 chr12 86198935 86198935 C T rs7397266 RASSF9 Nonsynonymous SNV A285T 0.02 0.01 0.027 4 24 4 0.01 8 0 0 0 0 12.23 62244 chr5 140532 140532 T C rs12516846 PLEKHG4B Nonsynonymous SNV V393A 0.118 0.122 0.133 46 139 47 0.118 39 16 4 1 4 0.001 62245 chr17 7832599 7832599 T C rs200100920 KCNAB3 Nonsynonymous SNV K52R 0.009 0.013 0.007 4 11 5 0.01 2 0 0 0 0 0.023 62246 chr5 140712223 140712223 G A rs144494457 PCDHGA1 Nonsynonymous SNV V658I 0.015 0.021 0.007 4 18 8 0.01 2 0 0 0 0 12.26 62247 chr17 1731221 1731221 A G rs72822491 SMYD4 Nonsynonymous SNV V23A 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 0.005 62248 chr17 7990719 7990719 G A rs3027308 ALOX12B Synonymous SNV L14L 0.009 0.008 0.01 3 11 3 0.008 3 0 0 0 0 Benign 10.67 62249 chr16 11868137 11868137 T C rs144120543 ZC3H7A Synonymous SNV L286L 0.023 0.016 0.01 8 27 6 0.021 3 0 0 0 0 9.721 62250 chr5 140788 140788 A G rs12516245 PLEKHG4B Synonymous SNV P478P 0.124 0.133 0.129 48 146 51 0.123 38 15 4 1 4 0.071 62251 chr17 2202493 2202493 G A rs200081265 SMG6 Synonymous SNV S518S 0.003 0.005 0 2 3 2 0.005 0 0 1 0 0 0.107 62252 chr5 122515955 122515955 C T rs138552072 PRDM6 Synonymous SNV A537A 0.005 0.005 0 2 6 2 0.005 0 0 1 0 0 16.08 62253 chr5 140813 140813 G T rs73022563 PLEKHG4B Nonsynonymous SNV G487C 0.05 0.055 0.031 19 59 21 0.049 9 4 0 0 0 16.06 62254 chr4 114279674 114279674 C A rs34270799 ANK2 Nonsynonymous SNV S3300R 0.028 0.018 0.014 7 33 7 0.018 4 0 0 0 0 Benign/Likely benign 18.63 62255 chr5 133887780 133887780 G A rs12163993 JADE2 Synonymous SNV P64P 0.073 0.094 0.092 32 86 36 0.082 27 0 2 4 1 13.06 62256 chr12 9254241 9254241 G A rs2228222 A2M Synonymous SNV Y282Y 0.09 0.081 0.112 26 106 31 0.067 33 6 1 2 1 0.739 62257 chr5 122729025 122729025 C T rs189429890 CEP120 Nonsynonymous SNV R234H 0.005 0.008 0 3 6 3 0.008 0 0 1 0 0 Benign 23.4 62258 chr5 140953563 140953563 - GGA rs3075570 DIAPH1 P611_L612insP 0.04 0.029 0.01 9 47 11 0.023 3 0 1 0 0 62259 chr5 135186141 135186141 G A rs10455057 SLC25A48 Nonsynonymous SNV G40R 0.007 0.018 0.007 3 8 7 0.008 2 0 1 0 0 0.201 62260 chr5 135229756 135229756 T G IL9 Nonsynonymous SNV S90R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.323 62261 chr17 3729129 3729129 C T rs202092875 NCBP3 Nonsynonymous SNV E207K 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 22.8 62262 chr17 9725122 9725122 A G rs181176643 GSG1L2 Synonymous SNV H89H 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 0.098 62263 chr4 119626966 119626966 A G rs112726268 METTL14 Synonymous SNV T352T 0.014 0.005 0.003 4 16 2 0.01 1 0 0 0 0 4.357 62264 chr16 19896574 19896574 C T rs118036357 GPRC5B Nonsynonymous SNV G115R 0.017 0.01 0 2 20 4 0.005 0 0 0 0 0 8.19 62265 chr5 13717471 13717471 T C rs2277046 DNAH5 Nonsynonymous SNV T4220A 0.063 0.055 0.041 20 74 21 0.051 12 2 0 0 0 Benign 23.5 62266 chr16 20331737 20331737 C G rs73541251 GP2 Synonymous SNV V88V 0.052 0.052 0.037 14 61 20 0.036 11 2 0 0 0 10.34 62267 chr17 10397671 10397671 C T rs145273788 MYH1 Synonymous SNV A1889A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.35 62268 chr16 20335361 20335361 C T rs79104004 GP2 Synonymous SNV S104S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 14.83 62269 chr12 96883686 96883686 A G CFAP54 Nonsynonymous SNV H100R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.37 62270 chr16 20361136 20361136 G A rs74778184 UMOD Synonymous SNV G48G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.445 62271 chr5 143197 143197 G A rs11949577 PLEKHG4B Nonsynonymous SNV G505S 0.124 0.133 0.133 47 146 51 0.121 39 15 4 1 4 0.051 62272 chr5 143534 143534 G A rs13436090 PLEKHG4B Nonsynonymous SNV R576H 0.124 0.133 0.133 47 146 51 0.121 39 15 4 1 4 14.13 62273 chr12 97147615 97147615 G A rs115766786 CFAP54 Synonymous SNV K2593K 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 7.024 62274 chr16 21073933 21073933 G A rs144617499 DNAH3 Nonsynonymous SNV P1151L 0.033 0.016 0.027 15 39 6 0.038 8 2 0 0 0 33 62275 chr16 21098323 21098323 C G rs117470111 DNAH3 Nonsynonymous SNV R862S 0.011 0.008 0.01 1 13 3 0.003 3 0 0 0 0 25.1 62276 chr5 131915046 131915046 G A rs762674380 RAD50 Nonsynonymous SNV E135K 0.002 0.01 0 1 2 4 0.003 0 0 1 0 0 Uncertain significance 32 62277 chr4 5758054 5758054 G A rs143971158 EVC Nonsynonymous SNV V510I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 62278 chr4 170913443 170913443 C T rs760906723 MFAP3L Nonsynonymous SNV D3N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 62279 chr5 132362202 132362202 C A rs143508297 ZCCHC10 Nonsynonymous SNV A10S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.2 62280 chr17 4802317 4802317 T C rs55681486 CHRNE Synonymous SNV R435R 0.067 0.07 0.061 37 79 27 0.095 18 6 2 0 3 Benign 2.855 62281 chr17 12666403 12666403 C T rs369905898 MYOCD Synonymous SNV D753D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.16 62282 chr5 138775115 138775115 C T DNAJC18 Nonsynonymous SNV S7N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 62283 chr5 147041078 147041078 T C JAKMIP2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 10.54 62284 chr5 134907552 134907552 G A rs2547 CXCL14 Synonymous SNV Y97Y 0.097 0.086 0.143 26 114 33 0.067 42 8 1 3 1 10.44 62285 chr4 17805624 17805624 C T rs780388370 DCAF16 Synonymous SNV S47S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.67 62286 chr5 135288632 135288632 A G rs62623707 LECT2 Nonsynonymous SNV I24T 0.038 0.076 0.034 15 45 29 0.038 10 1 2 0 0 22.6 62287 chr17 17697094 17697108 CAGCAGCAGCAGCAG - RAI1 Q287_Q291del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 62288 chr17 17697097 17697108 CAGCAGCAGCAG - RAI1 Q288_Q291del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 62289 chr16 27517247 27517247 G A rs35776875 GTF3C1 Synonymous SNV I581I 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 Benign 16.11 62290 chr17 5392791 5392791 A G rs74577983 MIS12 Synonymous SNV K203K 0.048 0.042 0.027 9 56 16 0.023 8 1 0 0 0 0.056 62291 chr17 5418799 5418799 G A rs2137722 NLRP1 Nonsynonymous SNV R1292C 0.097 0.089 0.085 29 114 34 0.074 25 5 3 1 0 11.01 62292 chr17 5424906 5424906 C G rs11653832 NLRP1 Nonsynonymous SNV V1211L 0.097 0.086 0.082 27 114 33 0.069 24 5 3 1 0 0.019 62293 chr17 5424991 5424991 G A rs11653580 NLRP1 Synonymous SNV F1182F 0.097 0.086 0.082 27 114 33 0.069 24 5 3 1 0 12.34 62294 chr17 5433841 5433841 A G rs56872041 NLRP1 Synonymous SNV A1130A 0.097 0.086 0.082 27 114 33 0.069 24 5 3 1 0 0.005 62295 chr17 5433966 5433966 T C rs35596958 NLRP1 Nonsynonymous SNV M1089V 0.097 0.086 0.078 27 114 33 0.069 23 5 3 1 0 0.002 62296 chr17 5437285 5437285 G A rs34733791 NLRP1 Nonsynonymous SNV T965I 0.097 0.089 0.082 28 114 34 0.072 24 5 3 1 0 9.606 62297 chr17 5440197 5440197 T C rs7215856 NLRP1 Synonymous SNV K978K 0.099 0.083 0.075 29 116 32 0.074 22 5 3 1 0 0.03 62298 chr13 110438371 110438371 G C rs771264370 IRS2 Synonymous SNV P10P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.955 62299 chr17 5440221 5440221 T C rs7215868 NLRP1 Synonymous SNV E970E 0.095 0.086 0.068 28 112 33 0.072 20 5 3 1 0 0.008 62300 chr17 5440248 5440248 T C rs11657249 NLRP1 Synonymous SNV T961T 0.095 0.086 0.068 28 112 33 0.072 20 5 3 1 0 0.003 62301 chr17 5445243 5445243 G A rs11657747 NLRP1 Nonsynonymous SNV T878M 0.092 0.091 0.075 27 108 35 0.069 22 4 4 1 0 0.113 62302 chr17 5445314 5445314 G A rs12942931 NLRP1 Synonymous SNV C854C 0.092 0.089 0.075 27 108 34 0.069 22 4 3 1 0 1.186 62303 chr17 5461671 5461671 G C rs52795654 NLRP1 Nonsynonymous SNV T782S 0.09 0.089 0.082 27 106 34 0.069 24 4 3 1 0 0.002 62304 chr17 5461847 5461847 G A rs61753136 NLRP1 Synonymous SNV Y723Y 0.092 0.089 0.082 27 108 34 0.069 24 4 3 1 0 0.444 62305 chr17 5461895 5461895 C A rs61753137 NLRP1 Synonymous SNV L707L 0.091 0.089 0.082 27 107 34 0.069 24 4 3 1 0 7.869 62306 chr17 19584752 19584752 G C rs34416664 SLC47A2 Synonymous SNV A440A 0.016 0.018 0.017 3 19 7 0.008 5 1 0 0 0 7.042 62307 chr17 5462135 5462135 T C rs12950235 NLRP1 Synonymous SNV Q627Q 0.092 0.089 0.078 27 108 34 0.069 23 4 3 0 0 0.321 62308 chr17 5462654 5462654 G A rs2001363 NLRP1 Synonymous SNV F454F 0.09 0.089 0.082 27 106 34 0.069 24 4 3 1 0 0.264 62309 chr5 1494935 1494935 T C rs28715640 LPCAT1 Nonsynonymous SNV T125A 0.033 0.036 0.037 19 39 14 0.049 11 0 2 0 0 0.009 62310 chr17 5463279 5463279 G C rs11651595 NLRP1 Nonsynonymous SNV T246S 0.094 0.086 0.068 27 110 33 0.069 20 5 3 1 0 0.001 62311 chr5 149546530 149546530 G A rs757763760 CDX1 Nonsynonymous SNV G31S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.889 62312 chr16 29891206 29891206 C T rs113753753 SEZ6L2 Nonsynonymous SNV D404N 0.013 0.008 0.017 3 15 3 0.008 5 0 0 0 0 34 62313 chr4 141294814 141294814 G C rs2271430 SCOC Nonsynonymous SNV V42L 0.092 0.086 0.065 34 108 33 0.087 19 3 2 1 2 15.98 62314 chr5 149755744 149755744 G C rs2071240 TCOF1 Nonsynonymous SNV A588P 0.046 0.039 0.058 20 54 15 0.051 17 1 1 0 0 Benign 21.6 62315 chr13 111532401 111532401 T C rs777051024 ANKRD10 Synonymous SNV G282G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 5.314 62316 chr4 142053791 142053793 CGG - rs781565960 RNF150 A57del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 62317 chr13 113201798 113201798 A C rs553127646 TUBGCP3 Nonsynonymous SNV F435C 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 4.719 62318 chr4 143033777 143033777 G T INPP4B Nonsynonymous SNV Q732K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 62319 chr4 186583330 186583330 A G rs61734841 SORBS2 Nonsynonymous SNV F77L 0.01 0.01 0.01 5 12 4 0.013 3 0 0 0 0 25.3 62320 chr5 150410219 150410219 C A rs2233311 TNIP1 Nonsynonymous SNV R578I 0.106 0.115 0.15 54 125 44 0.138 44 9 1 4 5 14 62321 chr17 6547796 6547796 C T rs145202728 MED31 Synonymous SNV S129S 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 15.32 62322 chr5 13914743 13914743 A C rs140782270 DNAH5 Nonsynonymous SNV N402K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 62323 chr13 114453605 114453605 - TGTGTGCACG rs370235956 LINC00552 0 0 0.405 0 0 0 0 119 0 0 29 0 62324 chr4 146650323 146650323 A G rs377437853 C4orf51 Synonymous SNV A123A 0 0.008 0.01 3 0 3 0.008 3 0 0 0 0 8.842 62325 chr5 150715047 150715047 G A rs146604514 SLC36A2 Nonsynonymous SNV T196I 0.008 0.003 0 0 9 1 0 0 0 0 0 0 8.146 62326 chr13 20409754 20409754 C T rs200196724 ZMYM5 Nonsynonymous SNV A372T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 62327 chr17 7004927 7004927 C T rs11653054 ASGR2 Synonymous SNV E282E 0.026 0.018 0.034 10 30 7 0.026 10 0 0 0 0 13.12 62328 chr13 21729952 21729952 - GG SKA3 0.01 0.016 0.014 1 12 6 0.003 4 0 0 0 0 62329 chr13 21867759 21867759 T C rs17064778 LOC101928764 Nonsynonymous SNV H3R 0 0 0.007 0 0 0 0 2 0 0 0 0 4.066 62330 chr16 46940821 46940821 G A rs116619352 GPT2 Synonymous SNV R70R 0.022 0.021 0.02 8 26 8 0.021 6 0 0 0 0 Benign 5.824 62331 chr17 6604410 6604410 G A rs150517372 SLC13A5 Nonsynonymous SNV A208V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Uncertain significance 15.63 62332 chr5 142779317 142779317 T C rs56149945 NR3C1 Nonsynonymous SNV N363S 0.014 0.016 0.027 9 17 6 0.023 8 0 0 0 0 Likely benign 0.01 62333 chr17 6616593 6616593 G A rs141481217 SLC13A5 Synonymous SNV T20T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Likely benign 14.74 62334 chr5 145252239 145252239 C T rs71594518 GRXCR2 Nonsynonymous SNV G98D 0.043 0.068 0.037 12 50 26 0.031 11 0 0 0 0 Benign 27.6 62335 chr5 145252377 145252377 C T rs34892428 GRXCR2 Nonsynonymous SNV S52N 0.043 0.068 0.037 12 50 26 0.031 11 0 0 0 0 Benign 25.8 62336 chr5 151208500 151208500 C T rs75463357 GLRA1 Synonymous SNV R264R 0.02 0.029 0.017 5 24 11 0.013 5 0 0 1 0 Benign/Likely benign 15.15 62337 chr16 48258198 48258198 C T rs17822931 ABCC11 Nonsynonymous SNV G180R 0.072 0.073 0.092 19 85 28 0.049 27 3 2 1 1 Benign 27.5 62338 chr4 155156542 155156542 G A rs61741046 DCHS2 Nonsynonymous SNV H3088Y 0.016 0.01 0.027 8 19 4 0.021 8 0 0 0 1 19.03 62339 chr5 147024476 147024476 C A rs2116766 JAKMIP2 Synonymous SNV L298L 0.047 0.055 0.058 18 55 21 0.046 17 0 2 0 0 16.88 62340 chr5 154199950 154199950 C T rs199528595 FAXDC2 Nonsynonymous SNV E310K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 62341 chr4 155157015 155157015 T C rs61743677 DCHS2 Nonsynonymous SNV K2930R 0.017 0.01 0.027 8 20 4 0.021 8 0 0 0 1 7.443 62342 chr13 25265121 25265121 C T rs751786331 ATP12A Synonymous SNV G273G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.916 62343 chr16 50744525 50744525 C T rs104895422 NOD2 Nonsynonymous SNV R208C 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.65 62344 chr4 155219318 155219318 C G rs28561984 DCHS2 Nonsynonymous SNV E2050Q 0.02 0.018 0.02 9 24 7 0.023 6 0 0 0 1 0.006 62345 chr4 155219373 155219373 A G rs17031391 DCHS2 Synonymous SNV V2031V 0.02 0.018 0.027 9 24 7 0.023 8 0 0 0 1 11.18 62346 chr17 7133187 7133187 A G rs372715697 DVL2 Nonsynonymous SNV M199T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 23.1 62347 chr5 156287 156287 G A rs6554830 PLEKHG4B Synonymous SNV A770A 0.124 0.133 0.133 47 146 51 0.121 39 15 4 1 4 14.2 62348 chr16 53321892 53321892 A G rs61754093 CHD9 Nonsynonymous SNV K1738R 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 21.8 62349 chr4 25005356 25005356 T C rs2232027 LGI2 Nonsynonymous SNV Q452R 0.021 0.029 0.031 6 25 11 0.015 9 0 0 0 0 16.63 62350 chr16 53504536 53504536 A T rs61747629 RBL2 Nonsynonymous SNV R829S 0.008 0.016 0.007 3 9 6 0.008 2 0 0 0 0 Benign 15.13 62351 chr5 140625767 140625767 G A PCDHB15 Synonymous SNV E207E 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 8.139 62352 chr4 265663 265663 T A rs199890262 ZNF732 Nonsynonymous SNV H328L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 62353 chr4 155412141 155412141 C A rs148953504 DCHS2 Nonsynonymous SNV G123C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 33 62354 chr13 28794511 28794511 G A rs45530141 PAN3 Synonymous SNV A332A 0.02 0.026 0.02 8 23 10 0.021 6 0 0 0 0 11.57 62355 chr13 29898783 29898783 C T rs61999321 MTUS2 Nonsynonymous SNV T947M 0.035 0.039 0.044 13 41 15 0.033 13 1 1 1 0 23 62356 chr4 159048604 159048604 G A rs139005471 GASK1B Synonymous SNV T505T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.256 62357 chr17 26861877 26861877 C T rs61749867 FOXN1 Nonsynonymous SNV P430S 0.02 0.005 0.031 4 23 2 0.01 9 0 0 0 0 Benign/Likely benign 11.22 62358 chr5 159992785 159992785 C G ATP10B Nonsynonymous SNV R1354T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 62359 chr5 160034041 160034041 C G rs201819244 ATP10B Nonsynonymous SNV R964P 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 19.09 62360 chr13 31231778 31231778 G C rs17609459 USPL1 Nonsynonymous SNV A193P 0.034 0.029 0.048 10 40 11 0.026 14 0 0 0 0 5.894 62361 chr4 2994002 2994002 A C rs142478577 GRK4 Synonymous SNV R76R 0.016 0.01 0.003 2 19 4 0.005 1 0 0 0 0 0.002 62362 chr5 160067559 160067559 C T rs754622611 ATP10B Synonymous SNV R275R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 62363 chr5 140772386 140772386 C A PCDHGA8 Synonymous SNV A2A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 14.9 62364 chr5 148680717 148680717 G A rs61734415 AFAP1L1 Nonsynonymous SNV R84Q 0.028 0.023 0.01 16 33 9 0.041 3 0 0 0 0 17.93 62365 chr17 8136312 8136312 A C CTC1 Synonymous SNV G619G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.3 62366 chr5 148754136 148754136 G A rs2227460 IL17B Synonymous SNV P61P 0.02 0.029 0.01 11 24 11 0.028 3 0 0 0 0 2.691 62367 chr17 7468277 7468277 C T rs35596387 SENP3 Synonymous SNV S319S 0.058 0.039 0.054 15 68 15 0.038 16 1 1 0 0 13.59 62368 chr17 8192282 8192282 G T rs781125251 RANGRF Nonsynonymous SNV R29L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 32 62369 chr4 3372021 3372021 C T rs116426883 RGS12 Synonymous SNV N9N 0.013 0.013 0.003 0 15 5 0 1 0 0 0 0 8.742 62370 chr5 140795208 140795208 - A rs113784532 PCDHGA10 Frameshift insertion I827Dfs*6 0.058 0.078 0.037 30 68 30 0.077 11 1 1 0 2 62371 chr17 7673930 7673930 A G rs140035206 DNAH2 Nonsynonymous SNV Y1385C 0.007 0.01 0.007 5 8 4 0.013 2 0 0 0 0 27.3 62372 chr13 32821627 32821627 C T rs199701884 FRY Synonymous SNV F2332F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.87 62373 chr17 7699865 7699865 C T rs150114403 DNAH2 Synonymous SNV N2586N 0.008 0.013 0.007 5 9 5 0.013 2 0 1 0 0 15.66 62374 chr16 57113168 57113168 G A rs117555414 NLRC5 Nonsynonymous SNV R1705H 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 0.733 62375 chr17 7710874 7710874 G A rs146334962 DNAH2 Synonymous SNV A3233A 0.008 0.013 0.007 5 9 5 0.013 2 0 1 0 0 12.27 62376 chr4 1656992 1656992 C T rs752191120 FAM53A Nonsynonymous SNV E199K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.4 62377 chr5 149431704 149431704 A G rs61733366 HMGXB3 Synonymous SNV T1110T 0.012 0.005 0.017 7 14 2 0.018 5 0 0 0 0 0.299 62378 chr4 166999164 166999164 T C rs17047232 TLL1 Synonymous SNV P808P 0.026 0.026 0.048 11 31 10 0.028 14 1 0 0 0 0.256 62379 chr13 36700050 36700050 G A rs770858785 DCLK1 Synonymous SNV A75A 0 0.005 0.007 0 0 2 0 2 0 0 0 0 12.66 62380 chr5 167933156 167933156 A G rs61744940 RARS1 Synonymous SNV L396L 0.075 0.068 0.044 25 88 26 0.064 13 3 2 1 0 Benign 11.58 62381 chr4 36340755 36340755 C A rs56412718 DTHD1 Nonsynonymous SNV P498T 0.02 0.034 0.027 8 23 13 0.021 8 0 0 0 0 28.2 62382 chr16 57789123 57789123 C T rs372101330 KATNB1 Synonymous SNV I463I 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 12.38 62383 chr5 149677392 149677392 G A rs76556550 ARSI Synonymous SNV A365A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.074 62384 chr13 39266653 39266653 A G FREM2 Synonymous SNV Q1724Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.377 62385 chr4 38054737 38054737 C T rs58983546 TBC1D1 Nonsynonymous SNV R695C 0.114 0.089 0.15 47 134 34 0.121 44 8 3 5 1 20.7 62386 chr17 10236496 10236496 T A MYH13 Nonsynonymous SNV H690L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.4 62387 chr4 170477225 170477225 C G NEK1 Nonsynonymous SNV G405R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 62388 chr4 845629 845629 G C rs772120961 GAK Synonymous SNV P1060P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.535 62389 chr5 145551522 145551522 T C rs112954500 LARS Nonsynonymous SNV K28R 0.009 0.013 0.007 4 10 5 0.01 2 0 0 0 0 Benign 19.49 62390 chr4 174254781 174254781 T C rs200731505 HMGB2 Nonsynonymous SNV N7S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.014 62391 chr17 8159165 8159165 G A rs74720216 PFAS Nonsynonymous SNV R206H 0.026 0.031 0.017 10 31 12 0.026 5 0 0 0 1 25.4 62392 chr5 146833124 146833124 G T rs137909376 DPYSL3 Synonymous SNV I9I 0.01 0 0.003 2 12 0 0.005 1 0 0 0 0 17.35 62393 chr5 175956604 175956604 G C rs766475134 RNF44 Synonymous SNV P352P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.909 62394 chr17 11520780 11520780 C T rs769256686 DNAH9 Synonymous SNV H319H 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 9.456 62395 chr17 11642231 11642231 A G rs61739481 DNAH9 Nonsynonymous SNV K1950R 0.013 0.021 0.024 7 15 8 0.018 7 0 0 0 0 18.52 62396 chr17 8638731 8638731 C - rs760621171 CCDC42 A231Pfs*34 0.004 0.003 0 0 5 1 0 0 0 0 0 0 62397 chr5 176025321 176025321 G A rs763343040 GPRIN1 Synonymous SNV P505P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.683 62398 chr5 176316559 176316559 C T rs61749653 HK3 Nonsynonymous SNV G246D 0.014 0.016 0.01 6 17 6 0.015 3 0 1 0 0 25 62399 chr5 150923714 150923714 T C rs146381949 FAT2 Nonsynonymous SNV N2325S 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 21.3 62400 chr16 68387335 68387335 C A rs56365255 PRMT7 Nonsynonymous SNV L507M 0.01 0.01 0 6 12 4 0.015 0 0 0 0 0 4.741 62401 chr5 176831589 176831589 G A rs17876047 F12 Synonymous SNV P237P 0.04 0.044 0.037 9 47 17 0.023 11 1 0 0 1 Benign 3.692 62402 chr17 15878110 15878112 CAA - rs3064500 ADORA2B N153del 0.05 0.034 0.027 17 59 13 0.044 8 3 0 0 0 62403 chr13 52520435 52520435 C T rs1801248 ATP7B Synonymous SNV L808L 0.036 0.049 0.071 17 42 19 0.044 21 1 1 2 0 Benign/Likely benign 13.55 62404 chr16 68855966 68855966 G A rs35187787 CDH1 Nonsynonymous SNV A531T 0.01 0.003 0.007 1 12 1 0.003 2 1 0 0 0 Benign 23.9 62405 chr17 16203203 16203203 G T rs114670807 PIGL Nonsynonymous SNV D113Y 0.008 0.01 0.003 6 9 4 0.015 1 1 0 0 0 Conflicting interpretations of pathogenicity 17.88 62406 chr17 10543385 10543385 T C rs56163389 MYH3 Synonymous SNV K870K 0.014 0.021 0.014 8 17 8 0.021 4 0 0 0 0 Benign/Likely benign 0.111 62407 chr17 10544461 10544461 G A rs56259391 MYH3 Synonymous SNV G702G 0.014 0.021 0.017 8 17 8 0.021 5 0 0 0 0 Benign/Likely benign 10.15 62408 chr4 89618479 89618479 C T rs187220478 NAP1L5 Nonsynonymous SNV E143K 0.02 0.018 0.017 3 24 7 0.008 5 0 0 0 0 Likely benign 13.57 62409 chr5 176931064 176931064 G A rs748836235 DOK3 Stop gain Q415X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 62410 chr4 436848 436848 T C rs202092769 ZNF721 Nonsynonymous SNV K470E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 62411 chr17 37576163 37576163 A G rs61749873 MED1 Synonymous SNV P368P 0.026 0.023 0.024 6 31 9 0.015 7 1 0 1 0 3.13 62412 chr17 37604153 37604153 T A rs73294997 MED1 Synonymous SNV S10S 0.026 0.023 0.024 6 31 9 0.015 7 1 0 1 0 6.978 62413 chr17 11650958 11650958 G A rs61743635 DNAH9 Nonsynonymous SNV R2162K 0.079 0.091 0.068 36 93 35 0.092 20 5 3 1 3 8.757 62414 chr17 37792090 37792090 G A rs35797948 PPP1R1B Nonsynonymous SNV R160H 0.037 0.029 0.037 8 44 11 0.021 11 1 1 1 0 9.616 62415 chr17 37826249 37826249 A G rs5638 PNMT Synonymous SNV K152K 0.037 0.031 0.051 12 43 12 0.031 15 1 1 1 0 5.075 62416 chr13 55748673 55748673 T C rs1572687 MIR5007 0 0 0.575 0 0 0 0 169 0 0 48 0 2.828 62417 chr17 37898909 37898909 A C rs36079893 GRB7 Synonymous SNV P82P 0.056 0.049 0.068 15 66 19 0.038 20 2 0 1 0 0.008 62418 chr5 156191 156191 C T rs746721813 PLEKHG4B Synonymous SNV V738V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.08 62419 chr16 70503095 70503095 A G rs113497209 FCSK Nonsynonymous SNV N275S 0.014 0.016 0.007 3 17 6 0.008 2 0 0 0 0 13.73 62420 chr5 150413184 150413184 C T rs200926279 TNIP1 Synonymous SNV S535S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.95 62421 chr17 17700177 17700177 C T rs373267008 RAI1 Synonymous SNV A1305A 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 6.691 62422 chr13 77531996 77531996 T C rs116937385 ACOD1 Nonsynonymous SNV I441T 0 0.003 0.01 0 0 1 0 3 0 0 0 0 0.021 62423 chr4 187026557 187026557 - T rs199623729 FAM149A Frameshift insertion P110Sfs*64 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 62424 chr17 38928019 38928019 T C rs73985745 KRT26 Nonsynonymous SNV K116R 0.014 0.013 0.017 1 16 5 0.003 5 0 0 0 0 4.221 62425 chr5 159398923 159398923 G A rs139037965 ADRA1B Synonymous SNV V329V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.27 62426 chr5 159437621 159437621 C G rs41275305 TTC1 Nonsynonymous SNV A29G 0.011 0.01 0.01 8 13 4 0.021 3 0 0 0 0 4.809 62427 chr17 17067638 17067638 T A rs200022863 MPRIP Synonymous SNV A943A 0.003 0.003 0.017 0 4 1 0 5 0 0 0 0 0.004 62428 chr5 159546183 159546183 T C rs368799133 PWWP2A Synonymous SNV P71P 0.009 0.008 0.01 7 11 3 0.018 3 0 0 0 0 Benign 2.698 62429 chr5 179229032 179229032 G A rs75359599 MGAT4B Nonsynonymous SNV T27I 0.014 0.026 0.014 5 16 10 0.013 4 0 1 0 1 9.075 62430 chr5 161116672 161116672 C T rs3811993 GABRA6 Nonsynonymous SNV T187M 0.02 0.021 0.02 11 24 8 0.028 6 0 0 0 0 Benign 25.7 62431 chr5 179260238 179260238 C T rs140226523 SQSTM1 Nonsynonymous SNV R321C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 22.8 62432 chr4 187209702 187209702 G T rs5971 F11 Synonymous SNV R604R 0.069 0.052 0.054 19 81 20 0.049 16 3 0 0 0 Benign 15.01 62433 chr4 187209729 187209729 G A rs5976 F11 Synonymous SNV E613E 0.067 0.049 0.054 18 79 19 0.046 16 1 0 0 0 Benign 16.47 62434 chr16 72831358 72831360 TTG - rs372909378 ZFHX3 Q827del 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 62435 chr13 99340771 99340771 G A rs8187832 SLC15A1 Synonymous SNV N509N 0.04 0.042 0.065 8 47 16 0.021 19 2 0 0 0 3.234 62436 chr5 162901156 162901156 G A rs2303078 HMMR Nonsynonymous SNV R246H 0.037 0.044 0.017 25 44 17 0.064 5 1 0 0 2 0.441 62437 chr17 18874945 18874945 G A rs200181954 FAM83G Synonymous SNV N733N 0.002 0 0 4 2 0 0.01 0 0 0 0 0 1.164 62438 chr17 19285485 19285485 T G rs572641529 MAPK7 Synonymous SNV S484S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 0.002 62439 chr5 10236693 10236693 A G rs17360625 ATPSCKMT Nonsynonymous SNV V114A 0.048 0.049 0.044 19 56 19 0.049 13 0 0 0 0 12.49 62440 chr14 100847461 100847461 A C rs143858584 WDR25 Nonsynonymous SNV H67P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 62441 chr4 187628341 187628341 G A rs201450896 FAT1 Nonsynonymous SNV R881C 0.005 0.005 0.01 6 6 2 0.015 3 0 0 0 0 Likely benign 23.2 62442 chr5 180277292 180277292 T G rs371401262 ZFP62 Synonymous SNV A401A 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 3.999 62443 chr5 180335743 180335743 C T rs112784813 BTNL8 Synonymous SNV D69D 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 9.933 62444 chr14 101036074 101036074 C G rs10140554 BEGAIN 0 0 0.095 0 0 0 0 28 0 0 0 0 3.623 62445 chr14 101348572 101348572 C T rs112608318 RTL1 Nonsynonymous SNV A852T 0.011 0.01 0.014 5 13 4 0.013 4 0 0 0 0 27.1 62446 chr14 102446257 102446257 A T DYNC1H1 Synonymous SNV T240T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 62447 chr5 169483706 169483706 C T rs17647491 DOCK2 Synonymous SNV Y1438Y 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 Benign 14.81 62448 chr16 76482747 76482747 C G rs34251012 CNTNAP4 Nonsynonymous SNV L147V 0.018 0.01 0.02 8 21 4 0.021 6 0 0 0 0 13.23 62449 chr14 102698131 102698131 G A rs7152550 MOK Synonymous SNV S64S 0.084 0.094 0.075 20 99 36 0.051 22 5 3 0 0 3.147 62450 chr14 102729881 102729881 A G rs56377169 MOK 0.083 0.094 0.068 20 98 36 0.051 20 5 3 0 0 25.3 62451 chr5 170338070 170338070 T C rs139981430 RANBP17 Nonsynonymous SNV I231T 0.02 0.018 0.02 9 24 7 0.023 6 0 0 0 0 23 62452 chr5 205939 205939 C T rs145153903 CCDC127 Nonsynonymous SNV A86T 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 25.3 62453 chr5 171777393 171777393 G A rs75198607 SH3PXD2B Nonsynonymous SNV P329L 0.023 0.005 0.02 9 27 2 0.023 6 0 0 0 0 Benign 1.922 62454 chr5 156592657 156592657 G A FAM71B Synonymous SNV L175L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.576 62455 chr4 24801834 24801834 C G rs1799895 SOD3 Nonsynonymous SNV R231G 0.02 0.021 0 7 24 8 0.018 0 1 0 0 0 Pathogenic 29.4 62456 chr5 156890116 156890116 C A NIPAL4 Nonsynonymous SNV L80I 0.003 0 0 0 4 0 0 0 0 0 0 0 18.59 62457 chr5 171777495 171777495 G T rs77955907 SH3PXD2B Nonsynonymous SNV P295Q 0.025 0.005 0.02 10 29 2 0.026 6 0 0 0 0 Benign 0.612 62458 chr5 160042905 160042905 T C rs150012142 ATP10B Nonsynonymous SNV N865D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 62459 chr5 176011579 176011579 T C rs752138 CDHR2 Nonsynonymous SNV L766P 0.068 0.057 0.071 27 80 22 0.069 21 3 1 1 0 24.7 62460 chr5 176026491 176026491 G A rs35847475 GPRIN1 Synonymous SNV A115A 0.01 0.013 0.024 7 12 5 0.018 7 0 0 0 0 0.39 62461 chr5 33630963 33630963 C A ADAMTS12 Nonsynonymous SNV M648I 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 62462 chr5 16682075 16682075 T C rs143433432 MYO10 Nonsynonymous SNV N1365S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.1 62463 chr5 176520253 176520253 G A rs375466821 FGFR4 Nonsynonymous SNV R391Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.5 62464 chr5 176722005 176722005 G A rs78247455 NSD1 Nonsynonymous SNV A2546T 0.024 0.018 0.02 11 28 7 0.028 6 1 0 0 0 Benign 22.1 62465 chr16 81411037 81411037 G A rs200071978 GAN Nonsynonymous SNV V544M 0.009 0.003 0 0 10 1 0 0 0 0 0 0 Uncertain significance 32 62466 chr16 81944293 81944293 T G PLCG2 Synonymous SNV P634P 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 10.23 62467 chr5 169025499 169025499 A T rs143453400 SPDL1 Nonsynonymous SNV E351V 0.013 0.008 0.017 10 15 3 0.026 5 0 0 0 0 25.6 62468 chr4 37846036 37846036 G A PGM2 Synonymous SNV G257G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.882 62469 chr5 169111345 169111345 C T rs78243868 DOCK2 Nonsynonymous SNV T251M 0.017 0.018 0.014 15 20 7 0.038 4 0 0 0 1 Benign 10.18 62470 chr14 105954682 105954682 C G rs1128308 CRIP1 Synonymous SNV P50P 0.028 0.016 0.065 10 33 6 0.026 19 1 0 1 0 9.588 62471 chr5 178413523 178413523 G A rs62638210 GRM6 Nonsynonymous SNV R578C 0.002 0.013 0.014 4 2 5 0.01 4 0 0 0 0 Benign 23.3 62472 chr5 178413842 178413842 C T GRM6 Synonymous SNV L499L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.272 62473 chr4 71465307 71465307 C G AMBN Nonsynonymous SNV L80V 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 25 62474 chr5 172752907 172752907 C A rs146441603 STC2 Nonsynonymous SNV M86I 0.007 0.003 0.007 5 8 1 0.013 2 0 0 0 0 27.1 62475 chr17 27229718 27229718 G T rs553376241 DHRS13 Synonymous SNV G43G 0.003 0.008 0.02 3 3 3 0.008 6 0 0 0 0 13.54 62476 chr5 38407060 38407060 C T rs138323038 EGFLAM Nonsynonymous SNV T86M 0.025 0.042 0.037 8 29 16 0.021 11 0 0 0 0 17.8 62477 chr17 27086517 27086517 G A rs748336987 FAM222B Nonsynonymous SNV R154C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24 62478 chr5 179221105 179221105 G A rs75759006 LTC4S Synonymous SNV L8L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 9.57 62479 chr16 84516214 84516214 G A rs140439420 MEAK7 Nonsynonymous SNV T354M 0.013 0.023 0.007 6 15 9 0.015 2 0 0 0 0 30 62480 chr5 131008093 131008093 C A FNIP1 Nonsynonymous SNV V654F 0.003 0 0 0 3 0 0 0 0 0 0 0 15.55 62481 chr5 131543541 131543541 G A rs141800760 P4HA2 Nonsynonymous SNV H314Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 22.1 62482 chr5 176831563 176831563 G C F12 Nonsynonymous SNV T246S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.13 62483 chr4 76809396 76809396 G A rs61756411 PPEF2 Nonsynonymous SNV T168I 0.02 0.052 0.01 7 24 20 0.018 3 1 0 0 0 26 62484 chr16 87339443 87339443 T A rs746296878 C16orf95 Stop gain K195X 0.01 0.003 0 0 12 1 0 0 0 0 0 0 35 62485 chr5 44809369 44809369 C T rs35601455 MRPS30 Nonsynonymous SNV A102V 0.003 0.008 0.017 2 4 3 0.005 5 0 0 0 0 34 62486 chr17 32953207 32953207 G A rs745351904 TMEM132E Synonymous SNV L43L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.906 62487 chr5 178503472 178503472 C T rs116407910 ZNF354C Synonymous SNV A18A 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 13.82 62488 chr5 195318 195318 T C rs6886707 LRRC14B Synonymous SNV A465A 0.106 0.115 0.112 38 125 44 0.097 33 7 1 0 0 0.002 62489 chr5 19571904 19571904 T G rs150989071 CDH18 Nonsynonymous SNV N346T 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 17.23 62490 chr14 21865508 21865508 C G rs188164714 SNORD8 0 0 0.007 0 0 0 0 2 0 0 0 0 16.92 62491 chr17 34072898 34072898 C T rs12602590 GAS2L2 Nonsynonymous SNV A540T 0.022 0.029 0.041 13 26 11 0.033 12 0 0 0 0 8.941 62492 chr4 48542817 48542817 G A FRYL Stop gain R1950X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 62493 chr5 52397311 52397311 T C rs2233216 MOCS2 Synonymous SNV K85K 0.057 0.049 0.031 15 67 19 0.038 9 3 0 1 1 Likely benign 0.328 62494 chr4 48588709 48588709 A G rs200159502 FRYL Synonymous SNV T559T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 4.617 62495 chr5 52398005 52398005 T C rs2233213 MOCS2 Nonsynonymous SNV T50A 0.057 0.049 0.031 15 67 19 0.038 9 3 0 1 1 Likely benign 12.85 62496 chr16 88705462 88705462 A G rs200429002 IL17C Nonsynonymous SNV H27R 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.001 62497 chr5 31299653 31299653 C T rs150406388 CDH6 Synonymous SNV G242G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 18.43 62498 chr4 55130078 55130078 T C rs2229307 PDGFRA Synonymous SNV N204N 0.083 0.07 0.068 33 98 27 0.085 20 7 2 1 3 Benign 0.843 62499 chr4 55133726 55133726 T G rs4358459 PDGFRA Synonymous SNV G313G 0.08 0.068 0.068 33 94 26 0.085 20 6 2 1 3 Benign 1.804 62500 chr4 8230329 8230329 G A rs757610243 SH3TC1 Nonsynonymous SNV E894K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 62501 chr4 55139771 55139771 T C rs35597368 PDGFRA Nonsynonymous SNV S478P 0.078 0.063 0.065 31 91 24 0.079 19 7 2 1 3 Benign 0.142 62502 chr4 55143577 55143577 G A rs10028020 PDGFRA Synonymous SNV A603A 0.079 0.057 0.058 31 93 22 0.079 17 6 2 1 3 Benign 7.426 62503 chr5 5463055 5463055 G A ICE1 Nonsynonymous SNV S1203N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 62504 chr4 56502307 56502307 G T rs3828555 NMU Nonsynonymous SNV A18E 0.018 0.013 0.007 7 21 5 0.018 2 1 0 1 0 22.3 62505 chr14 23571371 23571371 G A rs77224306 LMLN2 Synonymous SNV L413L 0 0 0.024 0 0 0 0 7 0 0 0 0 15.81 62506 chr5 55178976 55178976 G A rs13184107 IL31RA Nonsynonymous SNV D168N 0.04 0.029 0.017 18 47 11 0.046 5 1 1 0 0 0.002 62507 chr17 48270373 48270373 G A rs148275339 COL1A1 Synonymous SNV P601P 0.02 0.023 0.024 15 23 9 0.038 7 0 1 0 0 Benign/Likely benign 16.73 62508 chr14 23571609 23571609 G A rs74593981 LMLN2 Synonymous SNV L360L 0 0 0.024 0 0 0 0 7 0 0 0 0 18.51 62509 chr14 23574096 23574098 GCA - rs3044822 LMLN2 L11del 0 0 0.017 0 0 0 0 5 0 0 0 0 62510 chr5 55251931 55251931 G C rs2228043 IL6ST Nonsynonymous SNV L65V 0.122 0.128 0.204 58 143 49 0.149 60 7 6 6 7 0.007 62511 chr17 36484901 36484901 - A rs756928373 GPR179 Frameshift insertion M1517Ifs*43 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 62512 chr4 5690908 5690908 C T EVC2 Nonsynonymous SNV A148T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 62513 chr5 55264153 55264153 C G rs2228044 IL6ST Nonsynonymous SNV G148R 0.122 0.128 0.18 58 143 49 0.149 53 7 6 7 7 23.4 62514 chr14 23829220 23829220 C T rs2231804 EFS Nonsynonymous SNV R63Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 18.41 62515 chr5 1815987 1815987 C T rs1017334604 NDUFS6 Nonsynonymous SNV T111I 0.002 0 0 0 2 0 0 0 0 0 0 0 23 62516 chr17 37813338 37813338 T C rs2941515 STARD3 Synonymous SNV F99F 0.027 0.023 0.037 17 32 9 0.044 11 0 0 0 1 12.32 62517 chr14 23945565 23945565 G A rs143858822 NGDN Nonsynonymous SNV R221H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.5 62518 chr17 37815749 37815749 G A rs73296109 STARD3 Synonymous SNV T228T 0.027 0.023 0.037 17 32 9 0.044 11 0 0 0 1 16.72 62519 chr17 37818561 37818561 T C rs2941513 STARD3 Synonymous SNV V381V 0.027 0.023 0.034 17 32 9 0.044 10 0 0 0 1 7.665 62520 chr5 35779447 35779447 A C rs2277044 SPEF2 Nonsynonymous SNV K1482N 0.003 0 0.014 1 3 0 0.003 4 0 0 1 0 23.1 62521 chr4 57314764 57314778 GTACAGATAAAACAA - rs112629919 PAICS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 62522 chr5 21760698 21760698 G C CDH12 Nonsynonymous SNV I310M 0.003 0 0 0 3 0 0 0 0 0 0 0 14.73 62523 chr17 38557224 38557224 C A rs201279322 TOP2A Nonsynonymous SNV V848L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 31 62524 chr4 57797218 57797265 GAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA - rs770752350 REST Q746_V761del 0.04 0.042 0.027 25 47 16 0.064 8 0 0 0 0 62525 chr4 57797308 57797308 A C rs2227903 REST Nonsynonymous SNV K762Q 0.04 0.042 0.027 25 47 16 0.064 8 0 0 0 0 0.006 62526 chr5 38921788 38921788 G A rs2278329 OSMR Nonsynonymous SNV D553N 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 9.642 62527 chr4 57897491 57897491 C T rs140470135 IGFBP7 Nonsynonymous SNV E281K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 62528 chr5 140731159 140731159 T C rs78745319 PCDHGB1 Synonymous SNV N444N 0.02 0.026 0.051 6 23 10 0.015 15 0 0 0 0 0.016 62529 chr4 5795333 5795333 A G rs909612975 EVC 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 23.6 62530 chr5 40681710 40681710 T C rs34902673 PTGER4 Synonymous SNV L205L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.031 62531 chr5 140736814 140736814 G C rs11575951 PCDHGA4 Nonsynonymous SNV D714H 0.02 0.026 0.051 6 23 10 0.015 15 0 0 0 0 2.575 62532 chr5 65344568 65344568 T C rs146472115 ERBIN Nonsynonymous SNV I621T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 62533 chr5 41033163 41033163 T C rs10067611 MROH2B Nonsynonymous SNV M781V 0.041 0.055 0.041 14 48 21 0.036 12 1 1 0 0 0.001 62534 chr5 140745333 140745333 C T rs6882138 PCDHGA5 Nonsynonymous SNV P479L 0.02 0.026 0.051 6 23 10 0.015 15 0 0 0 0 10.63 62535 chr5 140754392 140754392 C A rs11575953 PCDHGA6 Nonsynonymous SNV R248S 0.019 0.026 0.044 5 22 10 0.013 13 0 0 0 0 13.61 62536 chr17 56274406 56274406 A G EPX Nonsynonymous SNV N303S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 62537 chr5 41912223 41912223 C T rs151191974 C5orf51 Nonsynonymous SNV P180L 0.003 0 0.014 4 4 0 0.01 4 0 0 0 0 33 62538 chr5 34863034 34863034 A T rs3906383 TTC23L Synonymous SNV T146T 0.055 0.047 0.092 24 64 18 0.062 27 2 0 0 0 0.002 62539 chr5 34915948 34915948 A G rs2069465 BRIX1 Synonymous SNV T35T 0.062 0.057 0.095 27 73 22 0.069 28 2 0 0 0 0.009 62540 chr5 34945122 34945122 A G rs17304200 DNAJC21 Synonymous SNV P378P 0.074 0.063 0.105 27 87 24 0.069 31 3 0 1 0 7.844 62541 chr5 34949719 34949719 G A rs181888042 DNAJC21 Synonymous SNV L419L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.95 62542 chr5 34954079 34954079 C G rs17244979 DNAJC21 Synonymous SNV V469V 0.072 0.063 0.085 26 85 24 0.067 25 3 0 1 0 10.4 62543 chr5 140789971 140789971 G A rs79498912 PCDHGB6 Synonymous SNV K734K 0.02 0.026 0.051 6 23 10 0.015 15 0 0 0 0 11.79 62544 chr5 71494420 71494420 A G rs150098917 MAP1B Synonymous SNV Q1620Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.077 62545 chr17 39305911 39305911 - GCAGCAGGTGGTCCT rs557154279 KRTAP4-5 R37_P38insTTCCR 0.023 0.026 0.014 11 27 10 0.028 4 0 0 0 1 62546 chr17 694847 694847 T C rs34081574 MRM3 Synonymous SNV N71N 0.016 0.005 0.017 5 19 2 0.013 5 0 0 0 0 4.553 62547 chr17 694958 694958 C T rs773145335 MRM3 Synonymous SNV D108D 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 3.169 62548 chr5 140869884 140869884 C A rs2233604 PCDHGC5 Synonymous SNV V359V 0.02 0.026 0.051 6 24 10 0.015 15 0 0 0 0 8.695 62549 chr5 52344487 52344487 A G rs55973669 ITGA2 Nonsynonymous SNV I173V 0.015 0.023 0.017 14 18 9 0.036 5 1 1 0 0 Likely benign 12.81 62550 chr4 9922170 9922170 C G rs73225891 SLC2A9 Nonsynonymous SNV D281H 0.01 0.005 0.007 2 12 2 0.005 2 0 0 0 0 Benign 24.2 62551 chr17 39458604 39458604 G A rs139703499 KRTAP29-1 Nonsynonymous SNV P167L 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 14.54 62552 chr17 39521180 39521180 G T rs142638263 KRT33B Nonsynonymous SNV S316R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.808 62553 chr5 102894730 102894730 C T rs34399362 NUDT12 Nonsynonymous SNV V198I 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 8.017 62554 chr5 54558674 54558674 G A rs61748222 DHX29 Synonymous SNV A1153A 0.02 0.029 0.024 4 23 11 0.01 7 0 0 0 0 12.41 62555 chr5 41051142 41051142 A G rs6893131 MROH2B Synonymous SNV S427S 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.02 62556 chr4 71469604 71469604 C T rs7439186 AMBN Nonsynonymous SNV A255V 0.098 0.12 0.109 33 115 46 0.085 32 8 3 2 1 25.2 62557 chr5 54771166 54771166 C T rs150488241 PLPP1 Synonymous SNV A57A 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 17.45 62558 chr14 50100796 50100796 C T rs1060503179 DNAAF2 Nonsynonymous SNV A358T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.008 62559 chr5 108717328 108717328 A G rs10052801 PJA2 Synonymous SNV Y36Y 0.019 0.026 0.014 7 22 10 0.018 4 0 0 0 0 3.469 62560 chr17 39642658 39642660 GGA - rs565828637 KRT36 S458del 0.032 0.031 0.01 8 38 12 0.021 3 0 0 0 0 62561 chr5 55212756 55212756 A G IL31RA Synonymous SNV Q682Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.042 62562 chr5 110411700 110411700 A G rs146834103 TSLP Synonymous SNV K40K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.642 62563 chr14 50469628 50469628 C A rs7155104 LINC01588 0 0 0.245 0 0 0 0 72 0 0 11 0 5.541 62564 chr14 50472405 50472405 G A rs6572635 LINC01588 0 0 0.255 0 0 0 0 75 0 0 11 0 16.92 62565 chr14 50474062 50474062 C G rs11623184 LINC01588, LINC01599 0 0 0.248 0 0 0 0 73 0 0 11 0 2.915 62566 chr4 74442349 74442349 G C rs17804499 RASSF6 Nonsynonymous SNV A240G 0.064 0.052 0.051 20 75 20 0.051 15 0 0 0 1 22.9 62567 chr17 1840357 1840357 G A rs74644325 RTN4RL1 Synonymous SNV N253N 0.014 0.018 0.02 13 16 7 0.033 6 0 0 0 1 0.188 62568 chr17 1961035 1961035 C G rs182733310 HIC1 Nonsynonymous SNV P370A 0.042 0.034 0.014 16 49 13 0.041 4 1 0 0 1 8.359 62569 chr4 75248505 75248505 G T rs78803121 EREG Nonsynonymous SNV C141F 0.06 0.06 0.054 37 70 23 0.095 16 2 0 0 4 18.29 62570 chr17 39674990 39674990 A G KRT15 Synonymous SNV F30F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.735 62571 chr5 60628153 60628153 - GGC rs565100893 ZSWIM6 G26_S27insG 0.037 0.036 0.061 22 44 14 0.056 18 9 4 3 6 62572 chr4 76442079 76442079 G T rs770187364 THAP6 Nonsynonymous SNV V60L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 62573 chr17 66391235 66391235 T C rs139410112 ARSG Synonymous SNV T355T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.269 62574 chr17 39728082 39728082 C A rs772792541 KRT9 Nonsynonymous SNV G55W 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 22.7 62575 chr5 64766903 64766903 G A ADAMTS6 Nonsynonymous SNV A55V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 19.53 62576 chr5 112178795 112178795 G A rs2229995 APC Nonsynonymous SNV G2484S 0.017 0.013 0.034 10 20 5 0.026 10 0 0 0 1 Benign/Likely benign 20.2 62577 chr17 2583565 2583565 G A rs147983048 PAFAH1B1 Synonymous SNV K370K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Likely benign 12.78 62578 chr5 65364726 65364726 A T rs547628959 ERBIN Nonsynonymous SNV N1219Y 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 24.6 62579 chr5 54424366 54424366 C T rs78692665 CDC20B Synonymous SNV E259E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 11.25 62580 chr17 39975584 39975584 G A rs372214186 FKBP10 Nonsynonymous SNV G284R 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 Uncertain significance 9.409 62581 chr14 52936852 52936852 T C TXNDC16 Synonymous SNV Q502Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 62582 chr5 68390134 68390134 G T rs896254742 SLC30A5 Nonsynonymous SNV G18C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.7 62583 chr4 77818108 77818108 G A rs79047696 SOWAHB Synonymous SNV L299L 0.009 0.008 0.014 4 11 3 0.01 4 0 0 0 0 8.745 62584 chr4 78079772 78079772 G A rs4150052 CCNG2 Synonymous SNV E29E 0.058 0.065 0.088 26 68 25 0.067 26 1 0 2 2 11.72 62585 chr5 118556760 118556760 G A rs140340763 DMXL1 Nonsynonymous SNV G2560D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 28.6 62586 chr14 58831936 58831936 G A ARID4A Synonymous SNV R1043R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.032 62587 chr17 3445964 3445964 G T TRPV3 Synonymous SNV S165S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.238 62588 chr17 72248482 72248482 C A rs9892705 TTYH2 Nonsynonymous SNV A88E 0.023 0.016 0.007 5 27 6 0.013 2 0 0 0 0 22.9 62589 chr17 40838024 40838024 C T rs62001916 CNTNAP1 Synonymous SNV G255G 0.014 0.021 0.003 5 17 8 0.013 1 0 1 0 0 Benign 16.66 62590 chr4 79792137 79792139 CAG - rs755543999 BMP2K Q486del 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 62591 chr5 82816190 82816190 A G rs61754531 VCAN Nonsynonymous SNV T689A 0.014 0.013 0.017 8 16 5 0.021 5 0 0 0 0 Benign 0.467 62592 chr4 81196113 81196113 G A rs200472889 FGF5 Nonsynonymous SNV V136I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.8 62593 chr17 3729502 3729502 T A rs117759016 NCBP3 Synonymous SNV V163V 0.015 0.013 0.017 8 18 5 0.021 5 0 0 0 0 15.34 62594 chr5 149932879 149932879 C T rs550785219 NDST1 Synonymous SNV L821L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.53 62595 chr17 4060233 4060233 G A rs118123280 CYB5D2 Nonsynonymous SNV V106M 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 32 62596 chr5 126250738 126250738 A C MARCHF3 Nonsynonymous SNV L93V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 62597 chr5 89989752 89989752 C T rs111033429 ADGRV1 Synonymous SNV D2393D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 9.55 62598 chr5 89990096 89990096 G A ADGRV1 Nonsynonymous SNV R2508K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 62599 chr14 63735877 63735877 C T rs144360251 RHOJ Synonymous SNV T76T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.53 62600 chr17 42288685 42288685 G A rs143885512 UBTF Synonymous SNV Y317Y 0.007 0.008 0 0 8 3 0 0 0 0 0 0 10.73 62601 chr17 4607235 4607235 G A rs202011755 PELP1 Nonsynonymous SNV P58S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.8 62602 chr17 73096860 73096860 C T rs149503044 SLC16A5 Nonsynonymous SNV L368F 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 25.9 62603 chr4 84380908 84380908 G A rs149425576 MRPS18C Nonsynonymous SNV V56I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.376 62604 chr5 71492734 71492734 C T rs7716079 MAP1B Synonymous SNV N1058N 0.074 0.096 0.082 41 87 37 0.105 24 2 2 2 2 0.38 62605 chr5 131607494 131607494 C T rs162884 PDLIM4 Synonymous SNV P227P 0.025 0.031 0 8 29 12 0.021 0 0 0 0 0 11.95 62606 chr17 73236144 73236144 C T rs377214878 GGA3 Nonsynonymous SNV A315T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.906 62607 chr17 42992696 42992696 G A rs201451094 GFAP Synonymous SNV S53S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 10.11 62608 chr17 43044922 43044922 C T rs145281382 C1QL1 Synonymous SNV K165K 0.013 0.01 0.017 1 15 4 0.003 5 0 0 0 0 17.19 62609 chr5 95757592 95757592 G A rs6231 PCSK1 Synonymous SNV N204N 0.023 0.016 0.027 10 27 6 0.026 8 0 0 2 0 Likely benign 11.82 62610 chr5 72171537 72171537 G A rs769750657 TNPO1 Synonymous SNV L208L 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 9.838 62611 chr5 131877524 131877524 G T rs2069818 IL5 Synonymous SNV T128T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.222 62612 chr5 131977963 131977963 T C rs1804670 RAD50 Synonymous SNV Y1282Y 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 13.95 62613 chr5 96121496 96121496 C T rs111363347 ERAP1 Nonsynonymous SNV V647I 0.005 0.003 0.02 3 6 1 0.008 6 0 0 0 0 27.8 62614 chr17 45044066 45044066 A G rs76094883 GOSR2 Synonymous SNV L250L 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 5.185 62615 chr17 45219354 45219354 A G rs7220394 CDC27 Synonymous SNV G375G 0.041 0.036 0.051 16 48 14 0.041 15 1 0 1 0 8.53 62616 chr5 153857038 153857038 C G rs34198899 HAND1 Synonymous SNV R177R 0.034 0.026 0.027 14 40 10 0.036 8 1 0 0 1 Benign 11.89 62617 chr5 73153552 73153552 G A rs115243197 ARHGEF28 Nonsynonymous SNV R308Q 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign 35 62618 chr5 132197558 132197558 C T rs61758975 GDF9 Nonsynonymous SNV S363N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 62619 chr14 69521288 69521288 A G rs779789894 DCAF5 Synonymous SNV S704S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.96 62620 chr5 132652163 132652163 G A rs150612886 FSTL4 Synonymous SNV S197S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.515 62621 chr17 45822308 45822308 A G rs140598127 TBX21 Nonsynonymous SNV Y395C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.7 62622 chr5 134670741 134670741 C T rs3733728 MACROH2A1 Synonymous SNV T347T 0.06 0.047 0.058 39 70 18 0.1 17 2 0 0 3 15.13 62623 chr5 134782076 134782076 G T rs147422825 DCANP1 Nonsynonymous SNV H241Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.986 62624 chr5 79473173 79473173 C T rs199907400 SERINC5 Nonsynonymous SNV A141T 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 34 62625 chr5 75596600 75596600 G A rs199778431 SV2C Synonymous SNV S561S 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 10.65 62626 chr6 100395802 100395802 A G rs74531963 MCHR2 Synonymous SNV A76A 0.052 0.034 0.037 21 61 13 0.054 11 0 0 1 0 2.254 62627 chr5 79733596 79733596 A G ZFYVE16 Synonymous SNV L364L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.006 62628 chr14 73726151 73726151 A G rs17182244 PAPLN Nonsynonymous SNV H628R 0.048 0.049 0.054 7 56 19 0.018 16 2 1 0 0 0.002 62629 chr17 74073448 74073457 GTCCTGGCCC - rs66906990 GALR2 P370Rfs*10 0.01 0.016 0.031 7 12 6 0.018 9 0 1 1 0 62630 chr5 135286946 135286946 A G rs78234114 LECT2 Synonymous SNV N85N 0.014 0.013 0.01 7 16 5 0.018 3 0 0 1 0 14.73 62631 chr14 74079486 74079486 A C rs12587206 ACOT6 Nonsynonymous SNV S71R 0 0 0.238 0 0 0 0 70 0 0 26 0 16.47 62632 chr4 92520043 92520043 A G rs377349774 CCSER1 Synonymous SNV P846P 0.013 0.003 0 6 15 1 0.015 0 0 0 0 0 0.294 62633 chr5 78301172 78301172 C T rs41272262 DMGDH Nonsynonymous SNV R770Q 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 Likely benign 27.5 62634 chr17 48158685 48158685 C T rs55893410 ITGA3 Synonymous SNV D944D 0.02 0.021 0.02 17 24 8 0.044 6 0 0 0 0 15.17 62635 chr6 109518400 109518400 A T rs7757073 CCDC162P 0.054 0.052 0 26 63 20 0.067 0 2 0 0 1 24.7 62636 chr6 109520846 109520846 G A rs7744035 CCDC162P 0.054 0.052 0 26 63 20 0.067 0 2 0 0 1 0.091 62637 chr6 109548272 109548272 G T rs139075921 CCDC162P 0.032 0.026 0 16 37 10 0.041 0 0 0 0 1 5.797 62638 chr5 82948520 82948520 T C HAPLN1 Nonsynonymous SNV H75R 0.009 0.003 0 1 11 1 0.003 0 1 0 0 0 2.951 62639 chr14 76045194 76045195 TC - rs796164911 LOC102724153 0 0 0.19 0 0 0 0 56 0 0 6 0 62640 chr5 89914925 89914925 T G rs41311333 ADGRV1 Nonsynonymous SNV L127R 0.025 0.005 0.01 4 29 2 0.01 3 2 0 0 0 Benign 26.4 62641 chr5 167894861 167894861 A C WWC1 Nonsynonymous SNV E1062A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.62 62642 chr5 13894773 13894773 G A rs766649400 DNAH5 Nonsynonymous SNV T806I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Uncertain significance 11.3 62643 chr5 79033978 79033978 C G CMYA5 Synonymous SNV T3130T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.19 62644 chr5 79054599 79054599 C T rs61744879 CMYA5 Nonsynonymous SNV P3712S 0.009 0.005 0.034 4 11 2 0.01 10 0 0 0 0 Conflicting interpretations of pathogenicity 33 62645 chr17 48750978 48750978 C A rs200413276 ABCC3 Nonsynonymous SNV A853D 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 20 62646 chr5 139251380 139251380 G A rs149924764 NRG2 Synonymous SNV N346N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 62647 chr17 48913478 48913478 C T rs77632597 WFIKKN2 Synonymous SNV S60S 0.055 0.07 0.065 21 64 27 0.054 19 1 1 0 0 12.15 62648 chr5 139740438 139740438 G A rs144340674 SLC4A9 Nonsynonymous SNV R91Q 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 26.6 62649 chr17 49043640 49043640 T C rs9896965 SPAG9 Nonsynonymous SNV N1176S 0.013 0.01 0.017 9 15 4 0.023 5 0 0 1 0 0.001 62650 chr17 49197883 49197883 C T rs79125706 SPAG9 Synonymous SNV E45E 0.009 0.01 0.01 4 11 4 0.01 3 0 0 0 0 13.36 62651 chr5 139937041 139937041 C T SRA1 Synonymous SNV V11V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 62652 chr14 77873878 77873878 C T rs141189280 NOXRED1 Nonsynonymous SNV V154I 0.034 0.021 0.024 10 40 8 0.026 7 0 0 0 0 0.004 62653 chr17 7330658 7330658 C A rs201127764 SPEM2 Synonymous SNV R450R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 20.9 62654 chr5 139946953 139946953 T C rs140110376 SLC35A4 Nonsynonymous SNV F67L 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 0.315 62655 chr6 111696171 111696171 C A rs763718329 REV3L Nonsynonymous SNV W1129C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 62656 chr5 169695440 169695440 G C rs56325561 LCP2 Synonymous SNV P190P 0.017 0.021 0.024 8 20 8 0.021 7 2 1 1 1 0.008 62657 chr5 1078124 1078124 - GCAG rs200032397 SLC12A7 0.022 0.018 0.048 1 26 7 0.003 14 0 0 0 0 62658 chr17 51901797 51901797 G A rs116955880 KIF2B Nonsynonymous SNV G468E 0.015 0.01 0 8 18 4 0.021 0 1 0 0 0 27.3 62659 chr17 7466384 7466384 G A rs144678797 SENP3-EIF4A1 0.011 0.005 0.017 4 13 2 0.01 5 1 0 0 0 10.64 62660 chr5 175959412 175959412 C T rs117169793 RNF44 Nonsynonymous SNV R21Q 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 23.1 62661 chr5 140187189 140187189 C T rs533567659 PCDHA4 Synonymous SNV N139N 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 2.221 62662 chr5 140187194 140187194 C T rs554905188 PCDHA4 Nonsynonymous SNV S141F 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 0.002 62663 chr17 76496294 76496294 G A rs73387148 DNAH17-AS1 0.028 0.016 0.058 11 33 6 0.028 17 2 0 1 0 0.008 62664 chr17 76496330 76496330 G A rs73380861 DNAH17-AS1 0.052 0.029 0.058 12 61 11 0.031 17 2 0 1 0 0.036 62665 chr17 53900140 53900140 C T rs2290433 PCTP Nonsynonymous SNV R200W 0.033 0.047 0.051 25 39 18 0.064 15 1 1 2 1 24 62666 chr6 116574002 116574002 C T rs2232473 TSPYL4 Synonymous SNV G390G 0.029 0.039 0.024 4 34 15 0.01 7 1 0 0 0 14.52 62667 chr6 116600453 116600453 C T rs3749894 TSPYL1 Nonsynonymous SNV A181T 0.14 0.13 0.088 54 164 50 0.138 26 9 4 2 4 0.286 62668 chr14 91773387 91773387 G A rs560210398 CCDC88C Nonsynonymous SNV R1064W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 62669 chr17 56693677 56693677 G T rs79813370 TEX14 Nonsynonymous SNV P215H 0.024 0.018 0.044 20 28 7 0.051 13 1 0 0 1 16.02 62670 chr17 56357818 56357818 C A rs7208693 MPO Nonsynonymous SNV V53F 0.048 0.049 0.031 13 56 19 0.033 9 1 1 1 0 14.26 62671 chr5 90111521 90111521 A G rs41304884 ADGRV1 Synonymous SNV R5388R 0.034 0.034 0.031 9 40 13 0.023 9 0 0 0 0 Benign 0.683 62672 chr5 140537885 140537885 G A rs151003300 PCDHB17P 0.014 0.029 0 15 17 11 0.038 0 0 0 0 0 0.373 62673 chr5 9108333 9108333 C T rs34874986 SEMA5A Synonymous SNV R664R 0.047 0.034 0.044 23 55 13 0.059 13 1 0 0 0 15.29 62674 chr17 56388303 56388303 T A rs3744099 TSPOAP1 Nonsynonymous SNV H1058L 0.037 0.039 0.02 12 44 15 0.031 6 1 1 0 0 0.442 62675 chr17 56389631 56389631 A G rs9905604 TSPOAP1 Nonsynonymous SNV W791R 0.05 0.052 0.027 13 59 20 0.033 8 1 1 0 0 2.209 62676 chr5 140683373 140683373 C A SLC25A2 Synonymous SNV G20G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.644 62677 chr5 93964581 93964581 G A rs760254088 SLF1 Synonymous SNV A22A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 11.82 62678 chr17 8526539 8526539 T C rs372687399 MYH10 Nonsynonymous SNV D9G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.2 62679 chr6 12123232 12123232 C T rs114781166 HIVEP1 Synonymous SNV P1068P 0.009 0.016 0.01 2 10 6 0.005 3 0 0 0 0 Benign 0.262 62680 chr6 12294253 12294253 C A EDN1 Nonsynonymous SNV R104S 0 0.005 0 0 0 2 0 0 0 0 0 0 4.463 62681 chr5 178384105 178384105 G C rs192541208 ZNF454 Nonsynonymous SNV R150P 0.042 0.044 0 21 49 17 0.054 0 1 0 0 1 0.255 62682 chr5 121413205 121413205 G T rs41407546 LOX Nonsynonymous SNV P159Q 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign/Likely benign 12.81 62683 chr17 9783810 9783810 C A GLP2R Nonsynonymous SNV Q421K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 62684 chr17 58121453 58121453 G A rs16943991 HEATR6 Nonsynonymous SNV S1006L 0.07 0.06 0.071 35 82 23 0.09 21 7 0 1 2 14.66 62685 chr5 140764245 140764245 G A rs770501792 PCDHGA7 Synonymous SNV A593A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.212 62686 chr17 63554626 63554626 G A AXIN2 Nonsynonymous SNV P38L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 0.004 62687 chr17 60042787 60042787 G T rs199700127 MED13 Nonsynonymous SNV S1475Y 0.009 0.003 0.003 1 10 1 0.003 1 2 0 0 0 18.83 62688 chr14 96552961 96552961 G A rs61746546 C14orf132 Synonymous SNV Q47Q 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 12.88 62689 chr17 78923340 78923340 G A rs764973913 RPTOR Synonymous SNV T963T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.15 62690 chr17 61466889 61466889 G A rs925382164 TANC2 Nonsynonymous SNV C938Y 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 21.9 62691 chr5 140802466 140802466 G A PCDHGA11 Nonsynonymous SNV D558N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 62692 chr17 66878099 66878099 C T rs34987539 ABCA8 Nonsynonymous SNV C1244Y 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 25.4 62693 chr17 66981032 66981032 T G rs117967396 ABCA9 Nonsynonymous SNV Q1458P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 62694 chr6 130762309 130762309 T C TMEM200A Nonsynonymous SNV S248P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 62695 chr17 11597237 11597237 A T rs372509153 DNAH9 Nonsynonymous SNV D1556V 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 15.52 62696 chr6 110746262 110746262 C T rs41288592 SLC22A16 Synonymous SNV L516L 0.043 0.057 0.02 12 50 22 0.031 6 0 0 0 0 4.252 62697 chr5 141053031 141053031 A G ARAP3 Synonymous SNV Y303Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.275 62698 chr6 111587310 111587310 T A rs117505745 MFSD4B Stop gain L182X 0.013 0.013 0.037 6 15 5 0.015 11 0 0 0 0 35 62699 chr6 100403871 100403871 G T rs753093935 MCHR2 Synonymous SNV G51G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.208 62700 chr6 131914232 131914232 A G rs77187818 MED23 Synonymous SNV A1104A 0.035 0.018 0.041 11 41 7 0.028 12 0 0 0 0 Benign 6.7 62701 chr6 111587311 111587311 A T rs117701011 MFSD4B Nonsynonymous SNV L182F 0.013 0.013 0.037 6 15 5 0.015 11 0 0 0 0 0.001 62702 chr17 62038602 62038602 T C rs187401185 SCN4A Nonsynonymous SNV H599R 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 62703 chr5 131257602 131257602 G C rs769013130 MEIKIN Nonsynonymous SNV Q171E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.547 62704 chr6 102516260 102516260 G A rs2235076 GRIK2 Nonsynonymous SNV M867I 0.044 0.034 0.034 14 52 13 0.036 10 2 0 0 1 Benign 14.62 62705 chr17 62076509 62076509 G T rs3181027 PRR29-AS1 0.022 0.031 0.048 17 26 12 0.044 14 2 0 0 2 3.569 62706 chr6 10586929 10586929 A G rs594495 GCNT2 Nonsynonymous SNV H236R 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 1.288 62707 chr15 101110096 101110096 T C rs12915007 LINS1 Nonsynonymous SNV I541V 0.014 0.016 0.037 13 16 6 0.033 11 0 0 0 0 Benign 2.976 62708 chr5 180661980 180661980 T C rs17714046 TRIM41 Nonsynonymous SNV Y506H 0.028 0.026 0.048 12 33 10 0.031 14 1 0 0 0 1.907 62709 chr15 101589972 101589972 T A rs41339845 LRRK1 Synonymous SNV I1141I 0.009 0.018 0.014 8 11 7 0.021 4 0 0 0 0 13.03 62710 chr5 143539969 143539969 C T rs147304369 YIPF5 Nonsynonymous SNV V202I 0.014 0.005 0.003 1 16 2 0.003 1 0 0 0 0 14.46 62711 chr5 143586755 143586755 G A rs148158462 KCTD16 Nonsynonymous SNV D160N 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 19.26 62712 chr17 16335119 16335119 C T TRPV2 Nonsynonymous SNV R537C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 62713 chr17 16456614 16456614 T G rs7224723 ZNF287 Nonsynonymous SNV K233T 0.03 0.044 0.048 10 35 17 0.026 14 0 0 0 0 0.005 62714 chr17 16472315 16472315 A G rs145057251 ZNF287 Synonymous SNV P70P 0.024 0.042 0 10 28 16 0.026 0 0 1 0 0 18.06 62715 chr17 16525824 16525824 T C rs62072858 ZNF624 Synonymous SNV L792L 0.062 0.06 0.095 22 73 23 0.056 28 2 2 2 1 1.221 62716 chr6 136710582 136710582 C T rs144407106 MAP7 Synonymous SNV R128R 0.009 0.008 0 6 11 3 0.015 0 0 0 0 0 16.42 62717 chr17 16527357 16527357 G A rs62072859 ZNF624 Synonymous SNV C281C 0.062 0.06 0.095 22 73 23 0.056 28 2 2 2 1 0.111 62718 chr15 21936925 21936925 C T rs28423023 LOC646214 0 0 0.282 0 0 0 0 83 0 0 0 0 4.648 62719 chr5 146258171 146258171 G T rs115018751 PPP2R2B Nonsynonymous SNV S59R 0.043 0.036 0.027 15 51 14 0.038 8 1 0 0 0 12.95 62720 chr5 146258291 146258293 GCT - rs10591869 PPP2R2B S19del 0.048 0.042 0.01 13 56 16 0.033 3 1 0 0 0 62721 chr6 137540425 137540425 C T rs11575936 IFNGR1 Nonsynonymous SNV V14M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 22.3 62722 chr15 25319288 25319288 T - rs750586945 SNORD116-10 0 0 0.105 0 0 0 0 31 0 0 0 0 62723 chr6 138642307 138642307 G A rs3736706 ARFGEF3 Nonsynonymous SNV A1571T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.6 62724 chr15 28375699 28375699 G A rs61756151 HERC2 Synonymous SNV C4204C 0.016 0.018 0.034 10 19 7 0.026 10 0 0 0 0 Benign 15.18 62725 chr6 11723636 11723636 C T rs2076185 ADTRP Nonsynonymous SNV V202I 0.03 0.042 0.048 18 35 16 0.046 14 0 0 1 0 0.004 62726 chr5 137275968 137275968 C G rs201094212 FAM13B Nonsynonymous SNV K870N 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 27 62727 chr17 18024676 18024676 C T rs182293382 MYO15A Synonymous SNV C854C 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.847 62728 chr6 139233939 139233939 T C rs200320051 REPS1 Nonsynonymous SNV Q554R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.75 62729 chr17 18049198 18049198 A T MYO15A Nonsynonymous SNV M2096L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.5 62730 chr6 13977698 13977698 C T rs35050766 RNF182 Synonymous SNV A116A 0.044 0.026 0.044 12 52 10 0.031 13 1 0 0 2 12.85 62731 chr6 142399709 142399709 C A rs145581958 NMBR Stop gain E104X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 44 62732 chr17 80914641 80914641 C G rs200907245 B3GNTL1 Nonsynonymous SNV R134T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.82 62733 chr6 143074720 143074720 C T rs773094071 HIVEP2 Nonsynonymous SNV A2289T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 62734 chr6 119234579 119234579 T C rs78231991 MCM9 Nonsynonymous SNV N304S 0.023 0.021 0.003 10 27 8 0.026 1 0 0 0 1 Likely benign 26.4 62735 chr6 119510904 119510904 C T rs117089274 MAN1A1 Nonsynonymous SNV E491K 0.013 0.013 0.014 4 15 5 0.01 4 0 0 0 0 3.932 62736 chr15 33010412 33010412 G A rs2293582 LOC100131315 0 0 0.204 0 0 0 0 60 0 0 8 0 9.039 62737 chr17 71027833 71027833 A G rs8079757 SLC39A11 Synonymous SNV Y56Y 0.018 0.021 0.02 9 21 8 0.023 6 1 0 0 0 1.494 62738 chr17 71084844 71084844 C T rs146208211 SLC39A11 Synonymous SNV G20G 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 13.55 62739 chr5 137902795 137902795 C T rs41295717 HSPA9 Synonymous SNV Q258Q 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 Benign 12.64 62740 chr5 138209344 138209344 G A rs201021876 LRRTM2 Synonymous SNV S302S 0 0 0 3 0 0 0.008 0 0 0 0 0 2.141 62741 chr5 149003626 149003626 G A rs113997100 ARHGEF37 Nonsynonymous SNV A463T 0.029 0.047 0.024 19 34 18 0.049 7 0 0 0 1 0.002 62742 chr5 138658658 138658658 - GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA MATR3 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 62743 chr6 146720360 146720360 C A rs41305288 GRM1 Nonsynonymous SNV P729T 0.034 0.039 0.031 15 40 15 0.038 9 0 1 0 1 24.4 62744 chr5 13867949 13867949 T C rs146191243 DNAH5 Synonymous SNV K1329K 0.019 0.031 0.031 10 22 12 0.026 9 1 0 0 0 Benign 2.13 62745 chr6 146977963 146977963 A C rs79354452 ADGB Synonymous SNV G153G 0.018 0.01 0.014 9 21 4 0.023 4 0 0 0 1 2.85 62746 chr17 72943434 72943434 G A rs35702634 OTOP3 Nonsynonymous SNV R477H 0.024 0.021 0.017 12 28 8 0.031 5 0 0 0 0 18.35 62747 chr6 146993392 146993392 A G rs77104188 ADGB Synonymous SNV K292K 0.043 0.065 0.048 24 51 25 0.062 14 1 1 0 2 0.118 62748 chr6 146997565 146997565 T A ADGB Nonsynonymous SNV S402T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 62749 chr17 19643699 19643699 C T rs142078447 ALDH3A1 Nonsynonymous SNV G300D 0.024 0.013 0.01 12 28 5 0.031 3 0 0 0 0 Benign 24 62750 chr15 34080645 34080645 C T rs61996336 RYR3 Synonymous SNV Y3272Y 0.013 0.018 0.017 10 15 7 0.026 5 0 0 0 0 Benign 13.91 62751 chr5 149278987 149278987 T C rs145107955 PDE6A Nonsynonymous SNV N405S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.6 62752 chr15 34159941 34159941 T G rs61729119 AVEN Nonsynonymous SNV E243A 0.024 0.021 0.024 6 28 8 0.015 7 1 0 0 0 22.4 62753 chr5 3599853 3599853 A G IRX1 Nonsynonymous SNV D264G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.596 62754 chr6 125379126 125379126 G A rs36014454 RNF217 Synonymous SNV K385K 0.009 0.003 0.01 5 10 1 0.013 3 0 0 0 0 13.38 62755 chr17 73498469 73498469 T C rs202153032 CASKIN2 Nonsynonymous SNV K814E 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 0.156 62756 chr5 37169221 37169221 G A rs34737149 CPLANE1 Nonsynonymous SNV T2302M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23.2 62757 chr5 139002976 139002976 T C rs61760192 UBE2D2 Synonymous SNV L110L 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 5.206 62758 chr17 21092112 21092112 C A DHRS7B Nonsynonymous SNV S221R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 29.9 62759 chr6 151054790 151054790 G T rs201661785 PLEKHG1 Nonsynonymous SNV R50S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.96 62760 chr6 151151762 151151762 G A rs76807130 PLEKHG1 Synonymous SNV P466P 0.043 0.036 0.044 10 50 14 0.026 13 0 0 1 0 1.792 62761 chr5 139422557 139422557 C T rs545945148 NRG2 Nonsynonymous SNV S33N 0.002 0 0.01 4 2 0 0.01 3 0 0 0 0 9.081 62762 chr6 151672185 151672185 A T rs61748676 AKAP12 Nonsynonymous SNV S782C 0.009 0.026 0.031 9 10 10 0.023 9 0 0 0 0 16.56 62763 chr17 73738664 73738664 C T rs201900480 ITGB4 Synonymous SNV D928D 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.91 62764 chr5 140038538 140038538 T C rs34433858 IK Nonsynonymous SNV I322T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21 62765 chr6 151687043 151687043 G A rs533502451 ZBTB2 Synonymous SNV T386T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 62766 chr6 151785645 151785645 G A rs74881777 ARMT1 Synonymous SNV G31G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.439 62767 chr6 131148699 131148699 T C SMLR1 Nonsynonymous SNV L49P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.3 62768 chr17 73900661 73900661 G A rs200937889 MRPL38 Synonymous SNV H69H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.539 62769 chr17 72859001 72859001 T C rs35769464 FDXR Nonsynonymous SNV T432A 0.02 0.018 0.003 3 24 7 0.008 1 1 0 0 0 Benign 0.001 62770 chr17 72860090 72860090 C T rs746364915 FDXR Nonsynonymous SNV D328N 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 23.9 62771 chr17 74898683 74898683 C G rs151190900 MGAT5B Nonsynonymous SNV Q137E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 62772 chr5 140207688 140207688 C G PCDHA6 Synonymous SNV T4T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.286 62773 chr18 10855478 10855478 C T PIEZO2 Nonsynonymous SNV D264N 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 62774 chr17 76083023 76083023 G A rs34543719 TNRC6C Synonymous SNV P1214P 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 10.1 62775 chr6 133789885 133789885 C G rs201985955 EYA4 Nonsynonymous SNV P275R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 19.86 62776 chr6 155141313 155141313 C T rs17552819 SCAF8 Synonymous SNV I546I 0.045 0.034 0.058 16 53 13 0.041 17 2 0 0 0 10.3 62777 chr17 76170996 76170996 G A rs34529187 TK1 Synonymous SNV S216S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 16.36 62778 chr5 140516042 140516042 C T rs148040037 PCDHB5 Synonymous SNV N342N 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 7.076 62779 chr17 73499256 73499256 G A rs551316249 CASKIN2 Synonymous SNV S551S 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 5.891 62780 chr18 13029986 13029986 G A rs116020861 CEP192 Nonsynonymous SNV E459K 0.02 0.021 0.01 2 23 8 0.005 3 0 0 0 0 21.8 62781 chr5 54275219 54275221 CTT - rs576725927 ESM1 E115del 0.001 0 0 0 1 0 0 0 0 0 0 0 62782 chr18 13057655 13057655 C T rs61740922 CEP192 Nonsynonymous SNV L1394F 0.025 0.026 0.02 11 29 10 0.028 6 0 0 0 0 27.7 62783 chr6 139097233 139097233 G A rs371434427 CCDC28A Synonymous SNV P82P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.47 62784 chr17 76456017 76456017 C G rs34438166 DNAH17 Nonsynonymous SNV V3168L 0.055 0.065 0.044 17 64 25 0.044 13 3 1 0 1 26.9 62785 chr15 42289675 42289675 C T rs1627062 PLA2G4E-AS1 0 0 0.633 0 0 0 0 186 0 0 74 0 7.197 62786 chr6 131229962 131229962 T A EPB41L2 Nonsynonymous SNV R284S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 62787 chr6 14131854 14131854 A G rs35118414 CD83 Nonsynonymous SNV N86S 0.042 0.031 0.041 16 49 12 0.041 12 0 0 1 0 0.002 62788 chr5 140801426 140801426 T C rs138408376 PCDHGA11 Nonsynonymous SNV L211P 0.014 0.013 0.01 10 16 5 0.026 3 0 0 0 0 24.7 62789 chr17 26851602 26851602 C T rs2071587 FOXN1 Nonsynonymous SNV R69C 0.077 0.063 0.085 28 90 24 0.072 25 1 2 0 1 Benign 23.2 62790 chr5 140856338 140856338 G C rs112156044 PCDHGC3 Nonsynonymous SNV G219R 0 0 0 3 0 0 0.008 0 0 0 0 0 25.5 62791 chr17 26857788 26857788 T C rs12449554 FOXN1 Synonymous SNV L284L 0.076 0.063 0.082 28 89 24 0.072 24 1 2 0 1 Benign 6.218 62792 chr5 159707623 159707623 G C rs140468741 CCNJL Synonymous SNV A63A 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 13.34 62793 chr15 43820468 43820468 C T rs376048980 MAP1A Nonsynonymous SNV P2266L 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 62794 chr6 133093284 133093284 T C rs200825659 SLC18B1 Nonsynonymous SNV M383V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.19 62795 chr6 146207866 146207866 C T rs754660416 SHPRH Synonymous SNV L1671L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14.37 62796 chr6 133802708 133802708 C A rs765773822 EYA4 Nonsynonymous SNV P306T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 62797 chr17 77918877 77918877 G A rs747368486 TBC1D16 Nonsynonymous SNV R205C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 62798 chr17 74208466 74208466 A G rs61760884 RNF157 Synonymous SNV F62F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 3.03 62799 chr6 136560948 136560948 G A rs10484485 MTFR2 Synonymous SNV G175G 0.002 0 0.01 0 2 0 0 3 0 0 0 0 7.455 62800 chr5 14389493 14389493 C T rs143311108 TRIO Synonymous SNV Y1348Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 62801 chr5 167850769 167850769 C T rs149414696 WWC1 Synonymous SNV H502H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 62802 chr17 29653227 29653227 A G rs745407845 NF1 Nonsynonymous SNV N1721S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 13.13 62803 chr15 49118181 49118181 T G rs145281560 SHC4 Nonsynonymous SNV H627P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.23 62804 chr15 50646251 50646252 AC - rs71747715 GABPB1-IT1 0 0 0.201 0 0 0 0 59 0 0 15 0 62805 chr6 161006077 161006077 C T rs41272114 LPA 0.038 0.039 0.024 7 45 15 0.018 7 3 2 0 0 Benign 22.1 62806 chr6 139094937 139094937 C T rs11154999 CCDC28A Synonymous SNV S42S 0.013 0.023 0.014 10 15 9 0.026 4 0 0 0 0 11.86 62807 chr18 33706235 33706235 C T rs117497867 SLC39A6 Nonsynonymous SNV E246K 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 21.9 62808 chr17 33476001 33476001 G A rs16970659 UNC45B Nonsynonymous SNV V60I 0.014 0.023 0.007 7 17 9 0.018 2 0 0 0 0 12.35 62809 chr6 151670289 151670289 C T rs887652361 AKAP12 Nonsynonymous SNV P150S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.348 62810 chr17 33592194 33592194 C G rs117695297 SLFN5 Nonsynonymous SNV R655G 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 24.4 62811 chr5 175919324 175919324 G A rs78597771 FAF2 Synonymous SNV T158T 0.02 0.021 0.024 15 23 8 0.038 7 0 0 0 0 14.3 62812 chr5 148421065 148421065 G A rs80227512 SH3TC2 Synonymous SNV S215S 0.017 0.029 0.031 5 20 11 0.013 9 0 0 0 0 Conflicting interpretations of pathogenicity 6.75 62813 chr6 167754975 167754975 G T rs12528714 TTLL2 Nonsynonymous SNV Q529H 0.015 0.018 0.014 7 18 7 0.018 4 0 0 0 0 21.9 62814 chr5 149242788 149242788 G A rs4705390 PDE6A Synonymous SNV D800D 0.035 0.044 0.02 13 41 17 0.033 6 0 0 0 0 Benign 7.853 62815 chr6 168377008 168377008 G T rs777554838 HGC6.3 Nonsynonymous SNV H109N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 1.536 62816 chr5 149245754 149245754 A G rs17110644 PDE6A Synonymous SNV F779F 0.035 0.044 0.02 13 41 17 0.033 6 0 0 0 0 Benign 0.993 62817 chr17 34171590 34171590 A G rs4251785 TAF15 Synonymous SNV G426G 0.07 0.078 0.054 23 82 30 0.059 16 0 0 3 1 9.266 62818 chr6 168377009 168377009 T G rs373603930 HGC6.3 Synonymous SNV P108P 0.036 0.049 0.014 12 42 19 0.031 4 10 5 1 1 0.201 62819 chr5 149265875 149265875 G A rs61733360 PDE6A Synonymous SNV F597F 0.031 0.039 0.02 10 36 15 0.026 6 0 0 0 0 Benign 11.9 62820 chr6 168377022 168377022 A G rs112006230 HGC6.3 Nonsynonymous SNV V104A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.119 62821 chr5 149404179 149404179 G T rs35341726 HMGXB3 Nonsynonymous SNV V300L 0.052 0.068 0.051 15 61 26 0.038 15 0 1 0 0 0.002 62822 chr17 76525592 76525592 C T rs61736293 DNAH17 Nonsynonymous SNV G1157R 0.018 0.01 0.037 3 21 4 0.008 11 1 1 0 0 34 62823 chr17 79769646 79769646 C T rs371527112 GCGR Synonymous SNV P259P 0.005 0.01 0.007 3 6 4 0.008 2 0 0 0 0 Likely benign 5.959 62824 chr5 149459839 149459839 G C rs140924076 CSF1R Nonsynonymous SNV A123G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 6.743 62825 chr17 76533555 76533555 G T rs141979513 DNAH17 Synonymous SNV I895I 0.026 0.016 0.044 3 30 6 0.008 13 1 1 0 0 8.663 62826 chr5 149509508 149509508 G A rs74943037 PDGFRB Nonsynonymous SNV T400M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 11.66 62827 chr6 169634896 169634896 G A rs34987335 THBS2 Synonymous SNV Y528Y 0.059 0.063 0.041 29 69 24 0.074 12 2 0 0 3 10.26 62828 chr5 149515397 149515397 T A rs17110944 PDGFRB Nonsynonymous SNV I29F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 1.079 62829 chr17 76568881 76568881 A G rs72920975 DNAH17 Synonymous SNV N147N 0.014 0.013 0.007 4 16 5 0.01 2 0 0 0 0 0.047 62830 chr17 79941511 79941511 C T rs11539917 ASPSCR1 Synonymous SNV P3P 0.027 0.023 0.01 12 32 9 0.031 3 2 1 0 0 15.18 62831 chr6 170871055 170871070 GCAGCAGCAGCAGCAG - TBP Q57Hfs*62 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 62832 chr15 60715916 60715916 A T rs748874467 ICE2 Nonsynonymous SNV S819T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 62833 chr6 149862510 149862510 T C rs115372734 PPIL4 Nonsynonymous SNV I66V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 62834 chr6 155153835 155153835 G A rs150578605 SCAF8 Nonsynonymous SNV R1041Q 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 23.4 62835 chr5 149827189 149827189 G C rs112432829 RPS14 Synonymous SNV S36S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.64 62836 chr6 157528506 157528506 G C rs3812233 ARID1B Synonymous SNV S1367S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.385 62837 chr6 150210539 150210539 G T rs112453646 RAET1E Stop gain C153X 0.003 0 0 2 3 0 0.005 0 0 0 0 0 33 62838 chr15 62932556 62932556 G C rs35757182 MGC15885 0 0 0.078 0 0 0 0 23 0 0 1 0 34 62839 chr6 150210662 150210662 G A rs200404534 RAET1E Synonymous SNV L112L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.218 62840 chr17 77082311 77082311 C T rs199968843 ENGASE Synonymous SNV A704A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.28 62841 chr15 63340416 63340416 A G rs73431508 TPM1-AS 0 0 0.109 0 0 0 0 32 0 0 3 0 Benign 7.212 62842 chr17 77987239 77987239 C T rs34603877 TBC1D16 Synonymous SNV E36E 0.023 0.029 0.031 14 27 11 0.036 9 1 0 0 0 15.23 62843 chr17 37885887 37885887 A G rs770825763 MIEN1 Synonymous SNV S105S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.734 62844 chr15 63340607 63340607 T C rs4075047 TPM1-AS 0 0 0.088 0 0 0 0 26 0 0 3 0 12.9 62845 chr15 63341073 63341073 C A rs11856618 TPM1-AS 0.003 0.005 0.044 3 3 2 0.008 13 0 0 1 1 12.77 62846 chr15 63341262 63341262 T C rs78880342 TPM1-AS 0 0 0.041 0 0 0 0 12 0 0 1 0 12.81 62847 chr6 24563624 24563624 T C rs994186582 KIAA0319 Nonsynonymous SNV I263V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 62848 chr15 63866278 63866278 C T rs61751107 USP3 Synonymous SNV F270F 0.011 0.013 0.02 11 13 5 0.028 6 0 0 0 0 17.56 62849 chr5 179195903 179195903 C T rs148671273 MAML1 Nonsynonymous SNV T595I 0.009 0.01 0.007 3 10 4 0.008 2 0 0 0 0 18.28 62850 chr6 159206423 159206423 C T rs528409234 EZR Nonsynonymous SNV A129T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 33 62851 chr17 78063995 78063995 C T CCDC40 Nonsynonymous SNV H964Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.074 62852 chr6 159331260 159331260 C T rs78995442 C6orf99 0.02 0.013 0.044 10 24 5 0.026 13 0 0 0 1 14.03 62853 chr5 179290970 179290970 C T rs140668514 TBC1D9B Synonymous SNV R1060R 0.01 0 0.007 7 12 0 0.018 2 0 0 0 0 9.399 62854 chr5 150930205 150930205 C T rs35489594 FAT2 Synonymous SNV T1508T 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Benign 8.844 62855 chr18 3457606 3457606 C T rs4468717 TGIF1 Nonsynonymous SNV P166S 0.102 0.151 0.092 55 120 58 0.141 27 5 3 0 3 Benign/Likely benign 12.27 62856 chr17 38956072 38956072 T C rs371614922 KRT28 Nonsynonymous SNV N25S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 62857 chr17 38975103 38975103 - GCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT KRT10 G565_H566insGYGGGSSSGGGYGGGSSSGG 0.032 0.031 0.044 15 37 12 0.038 13 3 0 0 0 62858 chr18 5890571 5890571 T C rs7506026 TMEM200C Nonsynonymous SNV S498G 0.042 0.029 0.065 14 49 11 0.036 19 2 1 1 0 5.467 62859 chr6 26043668 26043668 C G H2BC3 Nonsynonymous SNV R73P 0 0.003 0 0 0 1 0 0 0 0 0 0 33 62860 chr6 159655190 159655190 G A rs192765104 FNDC1 Nonsynonymous SNV D1216N 0.009 0.018 0.014 2 11 7 0.005 4 0 0 0 0 13.72 62861 chr17 78184601 78184601 C T rs62620232 SGSH Nonsynonymous SNV V387M 0.019 0.018 0.007 6 22 7 0.015 2 0 0 0 0 Benign 25 62862 chr5 180218820 180218820 C A rs2070925 MGAT1 Synonymous SNV V384V 0.053 0.052 0.058 23 62 20 0.059 17 1 0 0 0 12.68 62863 chr6 26056096 26056096 T C H1-2 Synonymous SNV K187K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 62864 chr5 180218831 180218831 G A rs2070924 MGAT1 Synonymous SNV L381L 0.057 0.052 0.058 23 67 20 0.059 17 1 0 0 0 6.749 62865 chr5 79026886 79026886 G C rs747914795 CMYA5 Nonsynonymous SNV Q766H 0.009 0 0 1 11 0 0.003 0 0 0 0 0 12.07 62866 chr6 26108033 26108033 G A rs770745936 H1-6 Synonymous SNV L97L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.097 62867 chr6 26124823 26124823 C G rs116440410 H2AC6 Synonymous SNV T121T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.11 62868 chr6 152629631 152629631 C T rs76160752 SYNE1 Nonsynonymous SNV R5709Q 0.013 0.013 0.034 3 15 5 0.008 10 0 0 0 0 Benign 28.5 62869 chr6 26205178 26205178 C A rs116339316 H4C5 Synonymous SNV G102G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.78 62870 chr15 67234340 67234340 G A rs7183187 LINC02206 0 0 0.099 0 0 0 0 29 0 0 1 0 5.383 62871 chr6 26392515 26392515 G C rs2072803 BTN2A2 Nonsynonymous SNV A255P 0.059 0.063 0.095 24 69 24 0.062 28 3 0 1 1 0.667 62872 chr18 9254281 9254281 C G rs773550646 ANKRD12 Nonsynonymous SNV S316C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.1 62873 chr5 180480213 180480213 C T rs145061568 BTNL9 Synonymous SNV P250P 0.038 0.029 0.027 24 45 11 0.062 8 0 0 0 1 15.92 62874 chr18 9255539 9255539 C T rs116726679 ANKRD12 Synonymous SNV S735S 0.024 0.016 0.014 6 28 6 0.015 4 2 0 0 0 9.574 62875 chr6 27278741 27278741 A T rs139203721 POM121L2 Synonymous SNV P403P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.009 62876 chr6 160966559 160966559 G A rs139145675 LPA Nonsynonymous SNV R1771C 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 27.4 62877 chr17 79104961 79104961 C T rs144434820 AATK Synonymous SNV A78A 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 11.5 62878 chr6 15524679 15524679 G A rs16876571 DTNBP1 Nonsynonymous SNV H297Y 0.016 0.008 0.007 2 19 3 0.005 2 0 0 0 0 Benign 1.943 62879 chr5 157053610 157053610 T C rs142156325 SOX30 Nonsynonymous SNV N667S 0.022 0.018 0.01 7 26 7 0.018 3 1 0 0 0 22.9 62880 chr15 71839770 71839770 T C rs188002691 THSD4 Synonymous SNV L8L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.82 62881 chr18 10540393 10540393 G A rs143915056 NAPG Nonsynonymous SNV R168H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 62882 chr6 28227860 28227860 G A rs3734564 NKAPL Synonymous SNV K237K 0.034 0.044 0.017 12 40 17 0.031 5 0 0 0 1 0.232 62883 chr6 161152819 161152819 C T rs4252128 PLG Nonsynonymous SNV A494V 0.014 0.008 0.014 3 17 3 0.008 4 0 0 0 0 Benign 26.8 62884 chr6 28297090 28297090 G A rs142223162 ZSCAN31 Nonsynonymous SNV P124L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 62885 chr6 157099186 157099186 - GCGGCGGCA rs775061368 ARID1B A47_S48insAAA 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 62886 chr5 160016598 160016598 C A ATP10B 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 62887 chr18 10979655 10979655 T G rs145948919 PIEZO2 Nonsynonymous SNV H55P 0.011 0.01 0.014 3 13 4 0.008 4 0 0 0 0 Benign 25 62888 chr6 157739931 157739931 T C rs140795384 TMEM242 Synonymous SNV A70A 0.034 0.036 0.017 13 40 14 0.033 5 1 1 0 0 6.13 62889 chr6 16290756 16290756 A C rs199783538 GMPR Nonsynonymous SNV E254A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 22.7 62890 chr6 16327915 16327915 - TGCTGCTGCTGCTGCTGC ATXN1 Q208_H209insQQQQQQ 0.006 0 0 3 7 0 0.008 0 0 0 0 0 62891 chr6 31113030 31113030 A G rs3132539 CCHCR1 Synonymous SNV L561L 0.037 0.042 0.041 12 43 16 0.031 12 17 6 6 5 10.07 62892 chr6 158540076 158540076 C T rs73797641 SERAC1 Synonymous SNV T431T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.828 62893 chr5 32087829 32087829 G A rs145909412 PDZD2 Synonymous SNV T1425T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.63 62894 chr18 72009544 72009544 C T rs79548281 C18orf63 Synonymous SNV L259L 0.036 0.039 0.014 13 42 15 0.033 4 2 0 0 0 12.75 62895 chr5 167553835 167553835 C T rs113328312 TENM2 Synonymous SNV G530G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.86 62896 chr6 159058804 159058804 G A rs111276200 DYNLT1 Synonymous SNV I50I 0.028 0.023 0.01 11 33 9 0.028 3 0 0 0 0 11.5 62897 chr5 167689243 167689243 G A rs60051254 TENM2 Nonsynonymous SNV V2346M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.6 62898 chr5 168127655 168127655 G A rs140275746 SLIT3 Synonymous SNV T965T 0.001 0.003 0.014 6 1 1 0.015 4 0 0 0 0 10.67 62899 chr18 21338476 21338476 G A LAMA3 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.3 62900 chr6 33658780 33658780 C T rs35506178 ITPR3 Synonymous SNV A2373A 0.031 0.034 0.037 10 36 13 0.026 11 0 1 0 0 17.16 62901 chr6 168461474 168461474 G A rs138998311 FRMD1 Nonsynonymous SNV R369C 0.009 0.008 0 8 10 3 0.021 0 0 0 0 0 9.194 62902 chr18 21529777 21529777 G C rs139393524 LAMA3 Nonsynonymous SNV D1469H 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Uncertain significance 25.1 62903 chr5 169141139 169141139 T C rs34864600 DOCK2 Synonymous SNV V589V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.386 62904 chr15 78475094 78475094 C T rs768276737 ACSBG1 Nonsynonymous SNV V229M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 62905 chr6 34826921 34826921 G C rs61732793 UHRF1BP1 Nonsynonymous SNV E930Q 0.06 0.065 0.044 12 71 25 0.031 13 3 0 0 1 0.088 62906 chr15 78526835 78526835 G A rs375363803 ACSBG1 Synonymous SNV R3R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.823 62907 chr5 169508902 169508902 C T rs149343589 DOCK2 Nonsynonymous SNV R1782C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 35 62908 chr6 34857311 34857311 C T rs190026995 ANKS1A Synonymous SNV G44G 0.058 0.057 0.014 10 68 22 0.026 4 4 1 0 1 11.61 62909 chr5 170345819 170345819 G C rs145822469 RANBP17 Nonsynonymous SNV E353Q 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 22.8 62910 chr5 171509966 171509966 T G rs146527200 STK10 Nonsynonymous SNV N603T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.016 62911 chr18 77440133 77440133 G C rs79644263 CTDP1 Synonymous SNV G62G 0.034 0.029 0 8 40 11 0.021 0 4 3 0 0 Benign 0.079 62912 chr5 17275799 17275799 C T rs374321272 BASP1 Synonymous SNV A158A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.62 62913 chr15 80216165 80216165 G T rs17214656 ST20-AS1 0 0 0.133 0 0 0 0 39 0 0 0 0 4.628 62914 chr19 440882 440882 G A rs113455631 SHC2 Synonymous SNV N173N 0.009 0.003 0.014 4 11 1 0.01 4 0 0 0 0 0.044 62915 chr19 440918 440918 G A rs61754498 SHC2 Synonymous SNV I161I 0.009 0.003 0.014 4 11 1 0.01 4 0 0 0 0 14.6 62916 chr19 474688 474688 T G rs75055948 ODF3L2 Synonymous SNV R20R 0.009 0 0.007 6 10 0 0.015 2 0 0 0 0 0.045 62917 chr15 81271642 81271642 C A rs144118294 MESD Nonsynonymous SNV G208V 0 0 0.007 0 0 0 0 2 0 0 0 0 19.01 62918 chr6 24357701 24357701 G T rs776415168 DCDC2 Nonsynonymous SNV A93D 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24 62919 chr6 24437408 24437408 G A rs61733145 GPLD1 Synonymous SNV S710S 0.031 0.042 0.017 15 36 16 0.038 5 0 0 0 1 16.55 62920 chr15 82387862 82387862 G C rs3087595 LINC01583 0 0 0.269 0 0 0 0 79 0 0 12 0 0.191 62921 chr18 3188927 3188927 G A rs142735495 MYOM1 Nonsynonymous SNV T197M 0.008 0.005 0.007 6 9 2 0.015 2 0 0 0 0 Benign 0.348 62922 chr6 36689198 36689198 T A rs75667310 RAB44 Nonsynonymous SNV D429E 0.025 0.021 0.037 9 29 8 0.023 11 0 0 1 0 4.585 62923 chr6 24454392 24454392 C T rs6924628 GPLD1 Nonsynonymous SNV G396S 0.02 0.026 0.003 5 23 10 0.013 1 0 0 0 0 8.39 62924 chr6 161152820 161152820 G A rs745998201 PLG Synonymous SNV A494A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.213 62925 chr6 16143390 16143390 A C rs79992066 MYLIP Nonsynonymous SNV I202L 0.02 0.023 0.037 9 24 9 0.023 11 0 0 0 0 20.4 62926 chr6 36839598 36839598 C G rs12194408 PPIL1 Nonsynonymous SNV C36S 0.03 0.042 0.024 8 35 16 0.021 7 0 0 0 0 28.2 62927 chr19 757197 757197 C T rs141160817 MISP Nonsynonymous SNV S84L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.132 62928 chr19 758613 758613 G A rs142890248 MISP Nonsynonymous SNV R556H 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 27.4 62929 chr18 34647296 34647296 T G rs370899316 KIAA1328 Synonymous SNV L232L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 2.039 62930 chr6 37140899 37140899 C T rs56213408 PIM1 Synonymous SNV D336D 0.003 0.013 0.003 1 4 5 0.003 1 0 0 0 0 Benign 14.03 62931 chr6 108029194 108029194 G A rs200680801 SCML4 Nonsynonymous SNV A90V 0.012 0.018 0.01 1 14 7 0.003 3 0 0 0 0 Benign 6.266 62932 chr17 41174190 41174190 G A rs758718649 VAT1 Synonymous SNV C50C 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 9.281 62933 chr15 86122970 86122970 T C rs17557307 AKAP13 Synonymous SNV N557N 0.02 0.021 0.024 14 23 8 0.036 7 0 0 0 0 5.251 62934 chr15 86123851 86123851 C T rs35624420 AKAP13 Nonsynonymous SNV S851F 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 6.964 62935 chr6 26235134 26235134 T C rs150822634 H1-3 Nonsynonymous SNV T10A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 62936 chr6 26368279 26368279 G A rs71557335 BTN3A2 0.06 0.063 0.105 23 70 24 0.059 31 2 0 3 1 0.026 62937 chr6 26370572 26370572 C T rs34878490 BTN3A2 Synonymous SNV V152V 0.06 0.063 0.105 23 70 24 0.059 31 2 0 3 1 10.21 62938 chr6 26370657 26370657 A G rs9358936 BTN3A2 Nonsynonymous SNV N181D 0.06 0.063 0.105 23 70 24 0.059 31 2 0 3 1 0.001 62939 chr6 170871040 170871040 A G rs55736770 TBP Synonymous SNV Q52Q 0.037 0.047 0.02 14 44 18 0.036 6 1 1 0 0 Likely benign 0.19 62940 chr5 179193049 179193049 C T rs200781660 MAML1 Synonymous SNV T346T 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 7.787 62941 chr6 170871046 170871046 A G rs62430309 TBP Synonymous SNV Q54Q 0.045 0.049 0.031 16 53 19 0.041 9 1 1 0 0 0.471 62942 chr6 39869235 39869235 G T rs199589116 DAAM2 Nonsynonymous SNV R990L 0 0.005 0 0 0 2 0 0 0 0 0 0 27.1 62943 chr6 26370659 26370659 C T rs9393711 BTN3A2 Synonymous SNV N181N 0.06 0.063 0.105 23 70 24 0.059 31 2 0 3 1 7.06 62944 chr6 170871049 170871049 G A rs56241301 TBP Synonymous SNV Q55Q 0.032 0.031 0.024 12 37 12 0.031 7 1 1 0 0 2.214 62945 chr17 42254236 42254236 G A rs74491716 ASB16 Nonsynonymous SNV A234T 0.027 0.018 0.024 11 32 7 0.028 7 1 0 0 1 24.2 62946 chr6 26373150 26373150 C T rs12174631 BTN3A2 Synonymous SNV P247P 0.06 0.063 0.105 23 70 24 0.059 31 2 0 3 1 9.367 62947 chr5 5464246 5464246 A G rs201904453 ICE1 Nonsynonymous SNV Q1600R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23 62948 chr6 170871055 170871055 G A rs112928724 TBP Synonymous SNV Q57Q 0.045 0.052 0.027 16 53 20 0.041 8 1 1 0 0 2.353 62949 chr6 26373507 26373507 G A rs13216828 BTN3A2 Nonsynonymous SNV S307N 0.056 0.063 0.102 20 66 24 0.051 30 2 0 3 1 11.52 62950 chr6 26409890 26409890 G C rs41266839 BTN3A1 Nonsynonymous SNV R230T 0.011 0.005 0.024 4 13 2 0.01 7 0 0 0 0 0.003 62951 chr17 42398802 42398802 G A rs34365655 SLC25A39 Synonymous SNV L150L 0.034 0.029 0.048 12 40 11 0.031 14 0 0 0 0 6.664 62952 chr6 26463574 26463574 G T rs13195401 BTN2A1 Nonsynonymous SNV W117L 0.011 0.005 0.027 4 13 2 0.01 8 0 0 0 0 24.4 62953 chr6 111983038 111983038 G C rs28763975 FYN Nonsynonymous SNV D451E 0.025 0.018 0.003 11 29 7 0.028 1 0 0 0 0 Benign 11.14 62954 chr6 17796932 17796932 A G rs758503405 KIF13A Synonymous SNV S970S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.254 62955 chr6 26463575 26463575 G T rs13195402 BTN2A1 Nonsynonymous SNV W117C 0.011 0.005 0.027 4 13 2 0.01 8 0 0 0 0 24.6 62956 chr6 26463660 26463660 G A rs13195509 BTN2A1 Nonsynonymous SNV V146M 0.021 0.018 0.051 7 25 7 0.018 15 1 0 1 0 23.6 62957 chr6 26468326 26468326 G A rs3734542 BTN2A1 Nonsynonymous SNV R317Q 0.021 0.018 0.051 7 25 7 0.018 15 1 0 1 0 7.515 62958 chr6 26468545 26468545 G C rs3734543 BTN2A1 Nonsynonymous SNV G390A 0.021 0.018 0.051 7 25 7 0.018 15 1 0 1 0 6.663 62959 chr5 180030376 180030376 C G rs146806202 FLT4 Nonsynonymous SNV G1303A 0.002 0.013 0.01 5 2 5 0.013 3 0 0 0 0 Benign 0.215 62960 chr6 18212778 18212778 G A rs200412946 KDM1B Synonymous SNV P410P 0.006 0 0 3 7 0 0.008 0 0 0 0 0 9.306 62961 chr6 42232509 42232509 T C rs61758087 TRERF1 Nonsynonymous SNV N523S 0.019 0.034 0.02 7 22 13 0.018 6 0 0 0 0 Benign 12.49 62962 chr17 42882167 42882167 C T rs546650725 GJC1 Nonsynonymous SNV R340Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 62963 chr6 21000533 21000533 G A rs145084016 CDKAL1 Nonsynonymous SNV V329I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23 62964 chr6 26509382 26509382 C T rs35555795 BTN1A1 Nonsynonymous SNV P521S 0.021 0.018 0.044 7 25 7 0.018 13 1 0 1 0 0.03 62965 chr18 12817305 12817305 G T rs145894346 PTPN2 Synonymous SNV V156V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 8.481 62966 chr6 24480113 24480113 T C rs61748579 GPLD1 Synonymous SNV K76K 0.013 0.008 0.007 12 15 3 0.031 2 0 0 0 0 3.767 62967 chr6 24489733 24489733 C G rs116789689 GPLD1 Nonsynonymous SNV A3P 0.013 0.008 0.01 12 15 3 0.031 3 0 0 0 0 14.41 62968 chr15 89424870 89424870 G T rs141308595 HAPLN3 Nonsynonymous SNV R71S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.8 62969 chr6 27835218 27835218 G A rs17763089 H1-5 Synonymous SNV G30G 0.015 0.016 0.027 7 18 6 0.018 8 0 0 0 0 6.328 62970 chr6 24520719 24520719 G A rs115784602 ALDH5A1 Nonsynonymous SNV V273M 0.005 0.003 0.003 8 6 1 0.021 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 62971 chr6 27879200 27879200 C A rs34788973 OR2B2 Nonsynonymous SNV A300S 0.013 0.005 0.027 4 15 2 0.01 8 0 0 0 0 22.3 62972 chr6 27879982 27879982 A G rs61742093 OR2B2 Nonsynonymous SNV I39T 0.013 0.005 0.027 4 15 2 0.01 8 0 0 0 0 13.66 62973 chr18 13681962 13681962 A T rs35493157 FAM210A Nonsynonymous SNV Y39N 0.06 0.057 0.088 25 70 22 0.064 26 3 0 0 1 0.005 62974 chr18 55816774 55816774 C T rs746580879 NEDD4L Nonsynonymous SNV R3C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.039 62975 chr6 43305097 43305097 C T rs139964158 ZNF318 Synonymous SNV S2213S 0.023 0.021 0.01 2 27 8 0.005 3 0 0 0 0 Benign 4.057 62976 chr5 6610007 6610007 T C NSUN2 Nonsynonymous SNV T384A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 62977 chr6 24780892 24780892 A C rs1923185 GMNN Nonsynonymous SNV N18T 0.022 0.016 0.034 11 26 6 0.028 10 0 0 0 0 16.48 62978 chr6 28268824 28268824 A G rs33932084 PGBD1 Nonsynonymous SNV N398S 0.019 0.005 0.024 6 22 2 0.015 7 0 0 0 0 3.914 62979 chr5 66460317 66460317 G A rs375185733 MAST4 Synonymous SNV E1509E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.533 62980 chr6 43970719 43970719 G T rs146391418 C6orf223 0.013 0.018 0.02 4 15 7 0.01 6 0 0 0 0 14.86 62981 chr6 43970720 43970720 C T rs138503303 C6orf223 0.013 0.018 0.02 4 15 7 0.01 6 0 0 0 0 22.9 62982 chr18 21109997 21109997 C T rs34136453 RMC1 Synonymous SNV Y343Y 0.018 0.013 0.01 5 21 5 0.013 3 0 0 0 0 Benign 10.63 62983 chr6 28366151 28366151 A G rs2232423 ZSCAN12 Nonsynonymous SNV M11T 0.012 0.005 0.024 5 14 2 0.013 7 0 0 0 0 0.003 62984 chr6 119297143 119297143 T A rs41292558 FAM184A Nonsynonymous SNV H721L 0.007 0 0.007 4 8 0 0.01 2 0 0 0 0 15.97 62985 chr6 3152760 3152760 T C rs2231370 BPHL Nonsynonymous SNV L276S 0.018 0.005 0.017 5 21 2 0.013 5 0 0 1 0 25.1 62986 chr6 26156843 26156843 G A rs150948103 H1-4 Synonymous SNV K75K 0.012 0.005 0.01 7 14 2 0.018 3 0 0 0 0 Benign 9.84 62987 chr6 3232342 3232342 G A rs7748598 LOC100422781 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.009 62988 chr19 1528365 1528365 C T rs116095010 PLK5 Nonsynonymous SNV P89L 0.011 0.008 0.014 2 13 3 0.005 4 0 0 0 0 Benign 0.103 62989 chr15 90342752 90342752 C G rs143245843 ANPEP Nonsynonymous SNV V620L 0.003 0 0.01 0 3 0 0 3 0 0 0 0 8.512 62990 chr6 46135319 46135319 C T rs35570105 ENPP5 Synonymous SNV L133L 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 0.632 62991 chr18 24497190 24497190 C T rs17694469 CHST9 Nonsynonymous SNV S122N 0.026 0.016 0.031 11 31 6 0.028 9 0 0 0 0 8.459 62992 chr18 25532304 25532304 T C rs2289664 CDH2 Nonsynonymous SNV N814S 0.019 0.039 0.017 13 22 15 0.033 5 0 0 0 0 22.6 62993 chr5 70858268 70858268 A G rs17276250 BDP1 Nonsynonymous SNV N2555S 0.034 0.026 0.031 13 40 10 0.033 9 1 0 0 0 Benign 4.721 62994 chr6 26406424 26406424 T C rs111540572 BTN3A1 Synonymous SNV L125L 0.007 0 0 1 8 0 0.003 0 4 0 0 0 2.134 62995 chr19 1918145 1918145 C T SCAMP4 Synonymous SNV G8G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.83 62996 chr5 72419659 72419659 A G rs141994801 TMEM171 Synonymous SNV S153S 0.014 0.016 0.02 5 17 6 0.013 6 0 0 0 0 Benign 0.052 62997 chr18 59854886 59854886 G A rs146488728 RELCH Nonsynonymous SNV G50S 0.008 0.008 0.02 5 9 3 0.013 6 0 0 0 0 23.5 62998 chr17 48183471 48183471 G T rs11237 PDK2 Synonymous SNV G185G 0.038 0.034 0.024 13 45 13 0.033 7 1 0 1 0 1.174 62999 chr6 128150718 128150718 A G rs140145051 THEMIS Synonymous SNV D204D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.85 63000 chr15 91035940 91035940 G A IQGAP1 Nonsynonymous SNV G1542D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 63001 chr5 73207339 73207339 C G rs149607856 ARHGEF28 Synonymous SNV A1316A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.44 63002 chr6 27278179 27278179 G T rs41269261 POM121L2 Nonsynonymous SNV P591T 0.041 0.044 0.051 15 48 17 0.038 15 0 1 0 0 17.62 63003 chr6 27279021 27279021 C G rs61736094 POM121L2 Nonsynonymous SNV G310A 0.042 0.044 0.051 15 49 17 0.038 15 0 1 0 0 0.002 63004 chr6 27279805 27279805 G T rs61736098 POM121L2 Nonsynonymous SNV P49T 0.041 0.044 0.051 15 48 17 0.038 15 0 1 0 0 22.8 63005 chr5 74877232 74877232 G A rs151251843 POLK Nonsynonymous SNV R232H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 63006 chr6 32632818 32632818 T G rs1130368 HLA-DQB1 Nonsynonymous SNV M46L 0.109 0.081 0.031 28 128 31 0.072 9 57 12 4 11 0.003 63007 chr15 93557954 93557954 G C rs56227200 CHD2 Nonsynonymous SNV G1574A 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 Benign 6.335 63008 chr5 35965686 35965686 C T rs754514609 UGT3A1 Stop gain W215X 0.002 0.016 0 1 2 6 0.003 0 0 0 0 0 34 63009 chr6 131222232 131222232 T C rs117767635 EPB41L2 Nonsynonymous SNV T340A 0.007 0.016 0.003 1 8 6 0.003 1 0 0 0 0 17.55 63010 chr5 36241643 36241643 C T rs6891700 NADK2 Synonymous SNV R86R 0.002 0.016 0.003 2 2 6 0.005 1 0 0 0 0 Benign 17.89 63011 chr19 3543880 3543880 G A rs115888985 C19orf71 Nonsynonymous SNV V168M 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 25.4 63012 chr6 131490292 131490292 A G rs779460663 AKAP7 Synonymous SNV E156E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.213 63013 chr19 3544725 3544725 G A rs7252640 MFSD12 Nonsynonymous SNV R467C 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 7.167 63014 chr5 38409190 38409190 C T rs777891092 EGFLAM Nonsynonymous SNV R211C 0.006 0 0 1 7 0 0.003 0 0 0 0 0 34 63015 chr6 5086791 5086791 C G rs989446139 PPP1R3G Nonsynonymous SNV L358V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 63016 chr5 38485920 38485920 C A rs758055364 LIFR 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.8 63017 chr5 38485971 38485971 T C rs74856317 LIFR Nonsynonymous SNV D816G 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Benign/Likely benign 8.946 63018 chr6 13228195 13228195 T C rs371583810 PHACTR1 Synonymous SNV N286N 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 2.135 63019 chr17 48917627 48917627 C T rs139168532 WFIKKN2 Synonymous SNV A233A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.427 63020 chr5 7766875 7766875 A T ADCY2 Nonsynonymous SNV N724Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.229 63021 chr5 7802468 7802468 C T rs140943409 ADCY2 Synonymous SNV D922D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 14.4 63022 chr16 10769943 10769943 G A rs78451460 TEKT5 Nonsynonymous SNV A320V 0.01 0.003 0.017 3 12 1 0.008 5 0 0 0 0 16.94 63023 chr6 51917940 51917940 G A rs772555705 PKHD1 Nonsynonymous SNV P692S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.033 63024 chr18 34174837 34174837 G A rs766647000 FHOD3 Nonsynonymous SNV V232I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.101 63025 chr6 52288777 52288777 T C rs374402088 EFHC1 Nonsynonymous SNV Y33H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 63026 chr6 32628141 32628141 G A rs281864446 HLA-DQB1-AS1 0.016 0.005 0.031 2 19 2 0.005 9 9 1 4 0 0.932 63027 chr19 3771586 3771586 G A rs76076446 RAX2 Nonsynonymous SNV P98L 0.022 0.042 0.017 12 26 16 0.031 5 0 2 0 0 Benign 29.6 63028 chr6 32628145 32628145 T C rs281864445 HLA-DQB1-AS1 0.016 0.005 0.031 1 19 2 0.003 9 9 1 4 0 0.338 63029 chr16 1115377 1115377 C T rs11649498 SSTR5-AS1 0 0 0.282 0 0 0 0 83 0 0 12 0 7.09 63030 chr5 41055888 41055888 C T rs61609768 MROH2B Nonsynonymous SNV R330Q 0.021 0.013 0.01 15 25 5 0.038 3 0 0 0 0 27.1 63031 chr6 32628146 32628146 G A rs2647082 HLA-DQB1-AS1 0.016 0.005 0.031 1 19 2 0.003 9 9 1 4 0 0.166 63032 chr19 3806021 3806021 G A rs199859071 ZFR2 Nonsynonymous SNV R916W 0.005 0.018 0 2 6 7 0.005 0 0 0 0 0 22.8 63033 chr6 32628160 32628160 C T rs117578558 HLA-DQB1-AS1 0.01 0.005 0.024 1 12 2 0.003 7 6 1 3 0 4.608 63034 chr16 1115493 1115493 - T rs200810931 SSTR5-AS1 0 0 0.085 0 0 0 0 25 0 0 0 0 63035 chr6 32628176 32628176 G A rs34983499 HLA-DQB1-AS1 0.009 0.005 0.01 1 10 2 0.003 3 5 1 1 0 0.578 63036 chr6 54002457 54002457 T G rs368911145 MLIP Synonymous SNV T519T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.911 63037 chr18 43243802 43243802 G A rs143263878 SLC14A2 Synonymous SNV S468S 0.03 0.023 0.01 8 35 9 0.021 3 1 0 0 0 8.649 63038 chr5 79027921 79027921 G A rs202024565 CMYA5 Synonymous SNV Q1111Q 0.003 0.01 0.01 0 4 4 0 3 0 0 0 0 Benign 3.833 63039 chr17 56345220 56345220 C T LPO Synonymous SNV R585R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.5 63040 chr6 36710109 36710109 G C rs139281125 CPNE5 Nonsynonymous SNV T223S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 63041 chr5 434146 434146 C T rs111768223 AHRR Nonsynonymous SNV R435C 0.012 0.003 0.003 2 14 1 0.005 1 0 0 0 0 Benign 23.9 63042 chr18 74980601 74980601 A T rs77169818 GALR1 Nonsynonymous SNV I265F 0.033 0.018 0.041 13 39 7 0.033 12 0 0 1 1 22.8 63043 chr18 43577718 43577718 G A rs138987468 PSTPIP2 Synonymous SNV C213C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.54 63044 chr6 56047380 56047380 C A COL21A1 Nonsynonymous SNV V13L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.048 63045 chr6 36926952 36926952 A G rs113848006 PI16 Nonsynonymous SNV K68R 0.019 0.021 0.007 11 22 8 0.028 2 0 0 0 1 24 63046 chr17 56396587 56396587 T C rs2072146 TSPOAP1 Synonymous SNV E461E 0.047 0.039 0.031 9 55 15 0.023 9 1 1 0 0 4.569 63047 chr6 36976798 36976798 G A rs202027789 FGD2 Nonsynonymous SNV R86K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 20.7 63048 chr19 4442325 4442325 C G rs376178380 CHAF1A Synonymous SNV V919V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.746 63049 chr16 1270166 1270166 C T rs59844753 CACNA1H Synonymous SNV C2072C 0.014 0.013 0.024 6 16 5 0.015 7 0 0 0 0 Benign 11.43 63050 chr17 56598438 56598438 G A rs140207841 SEPTIN4 Nonsynonymous SNV R301W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.2 63051 chr18 44626630 44626630 T G rs2289130 KATNAL2 Synonymous SNV T316T 0.023 0.026 0.037 10 27 10 0.026 11 1 0 0 0 Benign 11.9 63052 chr6 37443950 37443950 G A rs9462313 CMTR1 Synonymous SNV R695R 0.035 0.034 0.075 9 41 13 0.023 22 1 0 2 1 11.01 63053 chr6 38562053 38562053 G A rs762816839 BTBD9 Nonsynonymous SNV P20L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.3 63054 chr18 47777228 47777228 A C rs575195344 CFAP53 Nonsynonymous SNV I299S 0.002 0 0 6 2 0 0.015 0 0 0 0 0 0.306 63055 chr5 82817326 82817326 G A rs201157092 VCAN Synonymous SNV E1067E 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign/Likely benign 0.033 63056 chr6 65300250 65300250 C G rs199689193 EYS Nonsynonymous SNV W1837S 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 63057 chr16 14041570 14041570 T C rs1800069 ERCC4 Nonsynonymous SNV I706T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 63058 chr19 434718 434718 G A rs61749991 SHC2 Synonymous SNV A367A 0.037 0.057 0.034 10 43 22 0.026 10 1 1 0 0 6.541 63059 chr6 69684737 69684737 A G rs777875005 ADGRB3 Synonymous SNV Q536Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.312 63060 chr5 52405693 52405693 C A rs62621806 LOC257396 0.02 0.021 0.017 11 24 8 0.028 5 0 0 0 0 9.278 63061 chr6 35716319 35716319 A C rs112217683 ARMC12 Nonsynonymous SNV H232P 0.015 0.005 0.003 3 18 2 0.008 1 0 0 0 0 3.77 63062 chr16 1573864 1573864 C T rs146537096 IFT140 Nonsynonymous SNV V1079M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.202 63063 chr18 51855721 51855721 C T rs2917782 STARD6 Nonsynonymous SNV E100K 0.046 0.036 0.041 12 54 14 0.031 12 1 0 0 0 13.32 63064 chr18 51887123 51887123 C T rs1657904 C18orf54 Synonymous SNV L61L 0.051 0.039 0.044 13 60 15 0.033 13 1 0 0 0 7.679 63065 chr6 39163668 39163668 G A rs369643262 KCNK5 Synonymous SNV T94T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.016 63066 chr18 51888169 51888169 G C rs1657907 C18orf54 Nonsynonymous SNV R147P 0.051 0.039 0.044 13 60 15 0.033 13 1 0 0 0 14.45 63067 chr16 15833945 15833945 A G rs770004584 MYH11 Nonsynonymous SNV I987T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 63068 chr18 51888173 51888173 G A rs79359715 C18orf54 Synonymous SNV T148T 0.044 0.034 0.037 13 52 13 0.033 11 1 0 0 0 2.302 63069 chr19 964330 964330 C T rs143636573 ARID3A Synonymous SNV G283G 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 18.09 63070 chr5 94230426 94230426 T C rs140944775 MCTP1 Synonymous SNV T322T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 2.232 63071 chr18 55024330 55024330 T C rs1153632 ST8SIA3 Synonymous SNV A163A 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 0.198 63072 chr5 94860229 94860229 G A rs142058280 TTC37 Synonymous SNV Y464Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 4.438 63073 chr6 4044109 4044109 G A rs12195092 PRPF4B Synonymous SNV Q571Q 0.016 0.013 0.024 12 19 5 0.031 7 0 0 1 0 11.54 63074 chr6 4044214 4044214 A G rs35085092 PRPF4B Synonymous SNV S606S 0.092 0.081 0.065 43 108 31 0.11 19 6 0 2 6 8.273 63075 chr16 1718110 1718110 C T rs61746451 CRAMP1 Nonsynonymous SNV P1084S 0.014 0.013 0.017 6 17 5 0.015 5 0 0 0 0 27 63076 chr19 1008704 1008704 G A rs61744375 GRIN3B Nonsynonymous SNV E852K 0.004 0 0.01 0 5 0 0 3 0 0 1 0 Benign 34 63077 chr5 96224904 96224904 T G rs117041256 ERAP2 Nonsynonymous SNV S244A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 10.57 63078 chr17 64222164 64222164 C T rs1801692 APOH Nonsynonymous SNV S107N 0.055 0.036 0.075 12 64 14 0.031 22 3 0 1 0 0.002 63079 chr16 19194908 19194908 C T rs78637824 SYT17 Synonymous SNV G126G 0.017 0.016 0.02 5 20 6 0.013 6 0 0 0 0 12.75 63080 chr16 19590444 19590444 T C rs11866050 VPS35L Synonymous SNV F168F 0.016 0.026 0.02 5 19 10 0.013 6 0 0 0 0 2.602 63081 chr5 6377293 6377293 C T rs17831958 MED10 Synonymous SNV P64P 0.06 0.049 0.058 30 71 19 0.077 17 4 2 1 1 16.23 63082 chr16 1961866 1961866 G A rs61742747 HS3ST6 Synonymous SNV L252L 0.043 0.034 0.041 18 51 13 0.046 12 0 0 1 1 0.122 63083 chr6 7606393 7606393 G C SNRNP48 Nonsynonymous SNV K312N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 63084 chr17 66352836 66352836 G A rs186474907 ARSG Nonsynonymous SNV V183M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22.2 63085 chr5 98106253 98106253 G C rs117626350 RGMB-AS1 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 3.53 63086 chr18 57363878 57363878 C T rs116673304 CCBE1 Synonymous SNV E65E 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign/Likely benign 19.28 63087 chr6 152668215 152668215 C T rs144596829 SYNE1 Synonymous SNV A3948A 0.016 0.005 0.007 9 19 2 0.023 2 0 0 0 0 Benign/Likely benign 16.75 63088 chr19 1047336 1047336 G A rs59851484 ABCA7 Nonsynonymous SNV A676T 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 27.1 63089 chr18 57567451 57567451 C T rs61736947 PMAIP1 Synonymous SNV P14P 0.032 0.023 0.027 16 37 9 0.041 8 3 0 0 0 9.273 63090 chr17 66928460 66928460 T C rs16973446 ABCA8 Nonsynonymous SNV T256A 0.014 0.013 0.017 2 16 5 0.005 5 0 0 0 0 7.307 63091 chr17 66928468 66928468 G C rs62638729 ABCA8 Nonsynonymous SNV A253G 0.014 0.013 0.017 3 16 5 0.008 5 0 0 0 0 3.159 63092 chr17 66928470 66928470 C T rs28385895 ABCA8 Synonymous SNV K252K 0.014 0.013 0.017 2 16 5 0.005 5 0 0 0 0 13.34 63093 chr6 102266322 102266322 C G rs34747916 GRIK2 Synonymous SNV S427S 0.048 0.049 0.048 27 56 19 0.069 14 1 0 0 3 Likely benign 9.085 63094 chr17 67012450 67012450 G A rs73370041 ABCA9 Nonsynonymous SNV L995F 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 25 63095 chr19 1058635 1058635 C T rs73505232 ABCA7 Nonsynonymous SNV S1723L 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 33 63096 chr6 10405026 10405026 C - rs138809786 TFAP2A-AS2 0.02 0.01 0.051 8 23 4 0.021 15 1 0 2 0 63097 chr17 67045452 67045452 G T rs61741903 ABCA9 Nonsynonymous SNV N92K 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 11 63098 chr6 43013028 43013028 C T rs200300352 CUL7 Nonsynonymous SNV R1076Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 63099 chr16 20966291 20966291 G T rs34771199 DNAH3 Nonsynonymous SNV L3593I 0.029 0.031 0.027 12 34 12 0.031 8 0 1 0 0 26.2 63100 chr19 6751068 6751068 T A TRIP10 Nonsynonymous SNV S505T 0.018 0.013 0.037 11 21 5 0.028 11 0 0 0 0 9.979 63101 chr16 20975505 20975505 T C rs61735055 DNAH3 Nonsynonymous SNV H3188R 0.029 0.031 0.027 12 34 12 0.031 8 0 1 0 0 8.4 63102 chr17 67210856 67210856 C T rs150115601 ABCA10 Nonsynonymous SNV R332Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 16.86 63103 chr16 2105504 2105504 A G rs148325559 TSC2 Nonsynonymous SNV I158V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.665 63104 chr16 2110795 2110795 G A rs1800725 TSC2 Nonsynonymous SNV R167Q 0.02 0.042 0.031 5 23 16 0.013 9 0 1 0 0 Benign 23.8 63105 chr6 15524866 15524866 G A rs78181071 DTNBP1 Synonymous SNV N199N 0.014 0.013 0.007 4 17 5 0.01 2 0 1 0 0 Conflicting interpretations of pathogenicity 14.47 63106 chr16 2259552 2259552 A G rs201273931 BRICD5 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 23.6 63107 chr6 10874846 10874846 G A rs77910271 GCM2 Synonymous SNV D301D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 2.271 63108 chr19 1467560 1467560 G C rs148212035 APC2 Synonymous SNV G1419G 0.003 0 0.007 0 4 0 0 2 0 0 1 0 Benign 2.656 63109 chr19 1469093 1469093 G A rs200464281 APC2 Synonymous SNV P1930P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 12.01 63110 chr6 42074357 42074357 T C rs188670180 C6orf132 Synonymous SNV T431T 0.017 0.018 0.027 8 20 7 0.021 8 1 0 0 0 0.003 63111 chr19 1483753 1483753 G A rs149306857 PCSK4 Synonymous SNV Y429Y 0.008 0.008 0 0 9 3 0 0 0 0 0 0 3.173 63112 chr19 1487058 1487058 C T rs371814869 PCSK4 Nonsynonymous SNV G288S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 22.3 63113 chr19 1508061 1508061 G A rs74669101 ADAMTSL5 Synonymous SNV R179R 0.007 0 0 0 8 0 0 0 0 0 0 0 10.79 63114 chr19 1510721 1510721 G A rs113094765 ADAMTSL5 Synonymous SNV G36G 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 11.87 63115 chr19 1535105 1535105 C T rs73919227 PLK5 Synonymous SNV G289G 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 Benign 17.43 63116 chr6 42646397 42646397 C T rs575822442 UBR2 Synonymous SNV P1533P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 17.13 63117 chr19 1621904 1621904 G A rs34203855 TCF3 Synonymous SNV A296A 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 Benign/Likely benign 9.023 63118 chr6 159184507 159184507 C T rs2291386 SYTL3 Synonymous SNV N357N 0.065 0.034 0.048 33 76 13 0.085 14 1 0 1 3 8.94 63119 chr6 109770869 109770869 G A rs752261 MICAL1 Synonymous SNV T389T 0.049 0.057 0.065 19 57 22 0.049 19 1 0 0 1 11.85 63120 chr6 90605130 90605130 C T rs61730677 GJA10 Nonsynonymous SNV P315S 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 11.91 63121 chr6 109802651 109802651 C T rs2227263 ZBTB24 Synonymous SNV Q193Q 0.007 0.01 0.01 5 8 4 0.013 3 0 0 0 0 Benign 8.561 63122 chr16 2523062 2523062 C T rs149335787 NTN3 Synonymous SNV G398G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 63123 chr19 1969882 1969882 G T rs56218768 CSNK1G2 Synonymous SNV S37S 0.041 0.036 0.031 9 48 14 0.023 9 1 0 1 0 10.66 63124 chr6 46851296 46851296 C T rs78333594 ADGRF5 Synonymous SNV A204A 0.018 0.01 0.017 10 21 4 0.026 5 0 0 1 2 19.04 63125 chr17 72440049 72440049 C A rs142708564 GPRC5C Nonsynonymous SNV P382T 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 11.57 63126 chr16 2546328 2546328 G A rs200226466 TBC1D24 Nonsynonymous SNV R60Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.842 63127 chr16 2546851 2546851 G A rs188739853 TBC1D24 Synonymous SNV V234V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.609 63128 chr6 43188600 43188600 C T rs11962520 CUL9 Nonsynonymous SNV T2180I 0.015 0.018 0.003 7 18 7 0.018 1 0 0 0 0 24.5 63129 chr19 2425093 2425093 G C rs758450955 TMPRSS9 Nonsynonymous SNV K903N 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 23.8 63130 chr6 43535018 43535018 C T rs34324334 XPO5 Nonsynonymous SNV S241N 0.037 0.052 0.037 17 44 20 0.044 11 1 1 0 1 13.03 63131 chr6 43604167 43604167 A G rs35679149 MAD2L1BP Synonymous SNV E32E 0.019 0.016 0.017 5 22 6 0.013 5 0 0 0 0 8.394 63132 chr6 43968814 43968814 A G rs2295333 C6orf223, LOC101929705 0.076 0.049 0.061 22 89 19 0.056 18 4 0 0 1 3.147 63133 chr17 72999671 72999671 C A rs36057512 CDR2L Nonsynonymous SNV D300E 0.014 0.016 0.017 6 16 6 0.015 5 1 0 0 0 0.027 63134 chr16 28330317 28330317 C A rs56276220 SBK1 Synonymous SNV G76G 0.007 0.01 0.017 2 8 4 0.005 5 0 0 0 0 13.85 63135 chr6 43970602 43970602 G C rs117880737 C6orf223 0.024 0.031 0.044 12 28 12 0.031 13 0 0 0 1 11.92 63136 chr16 2849409 2849409 C T rs200162423 PRSS41 Nonsynonymous SNV A140V 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 4.997 63137 chr6 159692411 159692411 C T rs576926782 FNDC1 Synonymous SNV F1874F 0.006 0 0 0 7 0 0 0 0 0 0 0 12.55 63138 chr17 73016489 73016489 C T rs34496172 MRPL58 Nonsynonymous SNV T122M 0.025 0.023 0.027 7 29 9 0.018 8 1 0 0 0 1.933 63139 chr5 74949002 74949002 C T rs112912188 ANKDD1B Synonymous SNV N278N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.36 63140 chr5 74949005 74949005 C T rs200314468 ANKDD1B Synonymous SNV G279G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.47 63141 chr16 2891212 2891212 G A rs17854132 PRSS30P 0 0 0.218 0 0 0 0 64 0 0 8 0 5.724 63142 chr17 73235478 73235478 C G rs34008167 GGA3 Synonymous SNV V464V 0.043 0.042 0.017 13 50 16 0.033 5 1 1 0 0 12.3 63143 chr17 73236462 73236462 G A rs376390518 GGA3 Synonymous SNV P286P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.19 63144 chr19 3544877 3544877 C T rs373903338 MFSD12 Synonymous SNV T441T 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 13.08 63145 chr17 73481541 73481541 G A rs369565336 TMEM94 Synonymous SNV T29T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 9.026 63146 chr18 74153268 74153268 C T rs112916164 ZNF516 Synonymous SNV P581P 0.01 0.016 0.017 5 12 6 0.013 5 0 0 0 0 1.431 63147 chr7 100481990 100481990 C T rs143459147 SRRT Synonymous SNV A253A 0 0.008 0 0 0 3 0 0 0 0 0 0 14.3 63148 chr7 100491753 100491753 C T rs17881553 ACHE Nonsynonymous SNV R34Q 0 0.008 0 0 0 3 0 0 0 0 0 0 Benign 11.53 63149 chr6 51512887 51512887 A G rs17667728 PKHD1 Synonymous SNV P3780P 0.037 0.031 0.041 21 43 12 0.054 12 1 1 0 1 Benign 8.489 63150 chr16 30566907 30566907 G A rs779552906 ZNF764 Nonsynonymous SNV R278C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 63151 chr6 52101758 52101758 C T rs11465553 IL17F Nonsynonymous SNV V155I 0.013 0.018 0.014 12 15 7 0.031 4 1 0 0 1 Benign/Likely benign 26.3 63152 chr6 46830808 46830808 G A rs139946395 ADGRF5 Synonymous SNV P672P 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 9.626 63153 chr16 30990624 30990624 A T SETD1A Nonsynonymous SNV I1173F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 63154 chr16 30999198 30999198 C T rs17849880 HSD3B7 Synonymous SNV Y268Y 0.076 0.073 0.068 30 89 28 0.077 20 2 0 1 1 Benign 13.25 63155 chr16 30999369 30999369 C T rs149918713 HSD3B7 Synonymous SNV A325A 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 Benign 11.42 63156 chr19 3868999 3868999 T C rs199514567 ZFR2 Nonsynonymous SNV Y6C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.038 63157 chr19 3976669 3976669 C G rs145279867 EEF2 Synonymous SNV L820L 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Benign 11.33 63158 chr6 47575744 47575744 G T rs762462951 CD2AP Nonsynonymous SNV D538Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27 63159 chr6 121402024 121402024 G A rs200000443 TBC1D32 Nonsynonymous SNV H1223Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 22.6 63160 chr5 7867027 7867027 A G rs77130393 FASTKD3 Synonymous SNV N390N 0.014 0.01 0.017 4 16 4 0.01 5 1 0 1 0 0.499 63161 chr17 74006208 74006208 G A rs371295003 EVPL Synonymous SNV P1048P 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 8.402 63162 chr19 501743 501743 T C rs1140822 MADCAM1 Nonsynonymous SNV S248P 0.015 0.016 0.017 8 18 6 0.021 5 1 1 1 0 2.15 63163 chr17 74014634 74014634 G T rs7218767 EVPL Nonsynonymous SNV D444E 0.051 0.036 0.031 15 60 14 0.038 9 1 0 0 2 13.68 63164 chr19 4207852 4207852 C T rs7251041 ANKRD24 Nonsynonymous SNV P240L 0.023 0.026 0.01 7 27 10 0.018 3 1 0 0 0 15.96 63165 chr19 4207964 4207964 C T rs61742016 ANKRD24 Synonymous SNV S277S 0.023 0.026 0.017 7 27 10 0.018 5 1 0 0 0 13.12 63166 chr6 166904212 166904212 C T rs35257815 RPS6KA2 Synonymous SNV G157G 0.017 0.021 0.017 3 20 8 0.008 5 0 0 0 0 16.64 63167 chr5 7892933 7892933 A G rs35890938 MTRR Synonymous SNV V488V 0.014 0.01 0.02 4 17 4 0.01 6 1 0 1 0 Benign 9.299 63168 chr5 7893005 7893005 C T rs34172797 MTRR Synonymous SNV S512S 0.014 0.01 0.02 4 16 4 0.01 6 1 0 1 0 Benign 13.07 63169 chr5 7897061 7897061 T C rs6874544 MTRR Synonymous SNV Y587Y 0.014 0.01 0.02 4 16 4 0.01 6 1 0 1 0 Benign 2.185 63170 chr16 3199713 3199713 C T rs2735514 CASP16P 0 0 0.367 0 0 0 0 108 0 0 16 0 13.16 63171 chr17 74387377 74387377 C T rs368720072 UBE2O Nonsynonymous SNV E1176K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.8 63172 chr19 639943 639943 G T rs901656218 FGF22 Nonsynonymous SNV W6C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 63173 chr6 49754848 49754848 C T rs149194608 PGK2 Nonsynonymous SNV R18Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.4 63174 chr16 3705479 3705479 G C rs34907394 DNASE1 Nonsynonymous SNV E35D 0.009 0.01 0.007 11 10 4 0.028 2 0 0 0 0 8.484 63175 chr19 815319 815319 C T rs735657 PLPPR3 Synonymous SNV V90V 0.014 0.016 0.02 4 16 6 0.01 6 1 0 0 0 12.28 63176 chr16 3707751 3707751 C T rs201756002 DNASE1 Synonymous SNV G245G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.29 63177 chr16 3801732 3801732 G C CREBBP Synonymous SNV P1220P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.251 63178 chr17 76446872 76446872 A G rs35957404 DNAH17 Synonymous SNV D3597D 0.054 0.055 0.051 13 63 21 0.033 15 0 0 0 0 7.784 63179 chr16 4164337 4164337 C T rs887248 ADCY9 Synonymous SNV R369R 0.044 0.042 0.078 27 52 16 0.069 23 2 1 0 0 9.875 63180 chr6 51890852 51890852 C G rs9689306 PKHD1 Synonymous SNV L1252L 0.02 0.034 0.031 15 23 13 0.038 9 0 0 0 0 Benign/Likely benign 1.403 63181 chr19 968475 968475 G A rs146132253 ARID3A Synonymous SNV S522S 0.024 0.023 0.017 5 28 9 0.013 5 1 0 0 0 Benign 5.347 63182 chr6 52268446 52268446 T G rs139194968 PAQR8 Nonsynonymous SNV F145L 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 24 63183 chr5 891310 891310 C T rs141678469 BRD9 Nonsynonymous SNV R69H 0.016 0.008 0.007 5 19 3 0.013 2 0 0 0 0 14.3 63184 chr6 69703767 69703767 C G rs144610317 ADGRB3 Synonymous SNV G614G 0.009 0.016 0.017 7 10 6 0.018 5 0 0 0 0 13.58 63185 chr6 53387242 53387242 C A rs2066508 GCLC Synonymous SNV L78L 0.026 0.016 0.014 3 30 6 0.008 4 1 0 0 0 14.12 63186 chr17 76503678 76503678 C T rs59853990 DNAH17 Synonymous SNV A1482A 0.007 0.003 0 0 8 1 0 0 0 0 0 0 9.418 63187 chr17 76511038 76511038 T C rs17655792 DNAH17 Nonsynonymous SNV I1311V 0.053 0.049 0.027 12 62 19 0.031 8 5 1 0 1 0.227 63188 chr6 135777041 135777041 T C rs561883150 AHI1 Nonsynonymous SNV Y392C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 63189 chr19 1009186 1009188 AGC - rs142853420 GRIN3B Q912del 0.04 0.073 0.007 29 47 28 0.074 2 1 5 0 3 63190 chr17 76887344 76887344 C T rs117542112 CEP295NL Synonymous SNV A414A 0.023 0.029 0.02 8 27 11 0.021 6 0 0 0 0 13.52 63191 chr6 13814338 13814338 G A rs12206286 MCUR1 Synonymous SNV S108S 0.025 0.034 0.054 14 29 13 0.036 16 6 3 1 1 10.85 63192 chr5 92929293 92929293 C G rs149123352 NR2F1 Synonymous SNV A339A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.645 63193 chr6 25538140 25538140 G C rs41271819 CARMIL1 Nonsynonymous SNV G709R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.9 63194 chr5 93812885 93812885 C T rs10057902 KIAA0825 Synonymous SNV E386E 0.041 0.029 0.058 25 48 11 0.064 17 1 0 0 0 9.34 63195 chr5 93820568 93820568 C T rs77357740 KIAA0825 Synonymous SNV S346S 0.009 0.008 0.01 11 10 3 0.028 3 0 0 0 0 11.92 63196 chr6 56489412 56489412 C T rs41271870 DST Synonymous SNV R1078R 0.028 0.026 0.017 8 33 10 0.021 5 1 0 0 0 Benign 17.51 63197 chr6 56918748 56918748 G A KIAA1586 Stop gain W457X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 63198 chr5 94852092 94852092 A C rs75433043 TTC37 Nonsynonymous SNV L867V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.4 63199 chr16 4936043 4936043 C T rs780719168 PPL Synonymous SNV P871P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 63200 chr6 139609755 139609755 T C rs6933125 TXLNB Synonymous SNV S94S 0.008 0.005 0.01 6 9 2 0.015 3 0 0 0 0 0.125 63201 chr17 78032751 78032751 C - CCDC40 R472Gfs*3 0.006 0.003 0 0 7 1 0 0 0 0 0 0 63202 chr16 50703016 50703016 C T rs74017766 SNX20 Nonsynonymous SNV R109H 0.01 0.005 0.017 4 12 2 0.01 5 0 1 0 0 1.372 63203 chr16 50711334 50711334 G A rs1131716 SNX20 Nonsynonymous SNV P35L 0.015 0.021 0.01 4 18 8 0.01 3 0 0 0 0 1.3 63204 chr5 96117414 96117414 A G rs766710538 ERAP1 Synonymous SNV N810N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 0.081 63205 chr19 6151804 6151804 C T rs267605695 ACSBG2 Synonymous SNV A128A 0.006 0 0 3 7 0 0.008 0 0 0 0 0 8.939 63206 chr6 145093052 145093052 A G rs80110270 UTRN Synonymous SNV T2835T 0.039 0.039 0.041 12 46 15 0.031 12 1 2 0 1 2.852 63207 chr17 78110056 78110056 G A rs138300359 EIF4A3 Synonymous SNV L354L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 6.471 63208 chr6 76388558 76388558 G A rs200061055 SENP6 Nonsynonymous SNV G657R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 63209 chr19 6707142 6707142 G A rs142455019 C3 Synonymous SNV Y730Y 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Likely benign 0.643 63210 chr6 70890224 70890224 G A rs2273948 COL19A1 Synonymous SNV G896G 0.019 0.023 0.02 9 22 9 0.023 6 0 1 0 1 4.428 63211 chr5 96245289 96245289 C T rs773995844 ERAP2 Synonymous SNV Y680Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 11.53 63212 chr5 96443187 96443187 G A rs536009189 LIX1 Synonymous SNV A88A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.4 63213 chr6 149700224 149700224 G A rs201153759 TAB2 Synonymous SNV A391A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.505 63214 chr17 78362439 78362439 G A rs758341034 RNF213 Nonsynonymous SNV D4984N 0.006 0.003 0 0 7 1 0 0 0 0 0 0 34 63215 chr16 57003424 57003424 T C CETP Synonymous SNV T120T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 63216 chr6 150023163 150023163 T C rs754711137 LATS1 Nonsynonymous SNV I34V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 63217 chr19 10085049 10085049 - G COL5A3 Frameshift insertion G1127Rfs*9 0.002 0.003 0 0 2 1 0 0 0 0 0 0 63218 chr16 57481455 57481455 C G COQ9 Nonsynonymous SNV A13G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.81 63219 chr19 6926560 6926560 G C rs10406580 ADGRE1 Nonsynonymous SNV V583L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 12.33 63220 chr6 105730456 105730456 A G rs147742121 PREP Synonymous SNV G517G 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 15.51 63221 chr19 7505332 7505332 C A rs28489511 ARHGEF18 Nonsynonymous SNV P115Q 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 Benign 27.1 63222 chr19 10225335 10225335 G A rs147646315 P2RY11, PPAN-P2RY11 Nonsynonymous SNV S349N 0.011 0.008 0 5 13 3 0.013 0 0 0 0 0 Benign 0.072 63223 chr6 106959613 106959613 T - rs1004115689 CRYBG1 D208Tfs*28 0 0 0 1 0 0 0.003 0 0 0 0 0 63224 chr6 107103510 107103510 G T rs118029715 QRSL1 Nonsynonymous SNV V355L 0.013 0.018 0 9 15 7 0.023 0 0 1 0 0 9.229 63225 chr6 90362783 90362783 A C rs4707557 MDN1 Nonsynonymous SNV N5251K 0.02 0.003 0.031 13 23 1 0.033 9 0 0 1 0 5.584 63226 chr16 58079127 58079127 A G rs41504346 MMP15 Nonsynonymous SNV D596G 0.039 0.018 0.027 13 46 7 0.033 8 1 0 0 0 0.025 63227 chr6 90374283 90374283 A G rs16882046 MDN1 Nonsynonymous SNV I4720T 0.074 0.076 0.048 28 87 29 0.072 14 5 0 1 0 Benign 13.72 63228 chr6 10796531 10796531 G A rs55950618 MAK Synonymous SNV H281H 0.029 0.013 0.027 17 34 5 0.044 8 0 0 1 1 Uncertain significance 8.293 63229 chr6 90384274 90384274 T C rs41273327 MDN1 Nonsynonymous SNV R4266G 0.066 0.07 0.048 26 78 27 0.067 14 5 0 1 0 Benign 23.9 63230 chr16 58537686 58537686 G A rs62040071 NDRG4 Synonymous SNV T20T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.9 63231 chr19 7705886 7705886 C T rs948303875 STXBP2 Synonymous SNV A139A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14.45 63232 chr6 75890733 75890733 A G rs116691242 COL12A1 Synonymous SNV L696L 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign 7.638 63233 chr6 75890812 75890812 C T rs77790445 COL12A1 Synonymous SNV A669A 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign 14.21 63234 chr6 151789709 151789709 A G rs35989216 ARMT1 Nonsynonymous SNV I145V 0.017 0.01 0.007 9 20 4 0.023 2 0 0 0 0 0.017 63235 chr6 75893106 75893106 T C rs34767467 COL12A1 Synonymous SNV T517T 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign 0.002 63236 chr19 3637579 3637579 G C PIP5K1C Synonymous SNV P651P 0 0 0 2 0 0 0.005 0 0 0 0 0 20.4 63237 chr6 75898241 75898241 A C rs16886258 COL12A1 Synonymous SNV A278A 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign 0.336 63238 chr6 109538531 109538531 A G rs149211843 CCDC162P 0.011 0.013 0 2 13 5 0.005 0 0 0 0 0 8.966 63239 chr6 90642292 90642292 G A rs78688236 BACH2 Synonymous SNV S787S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.588 63240 chr16 628810 628810 C T rs773413031 PIGQ Synonymous SNV F365F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 63241 chr6 109771691 109771691 G A rs61731700 MICAL1 Nonsynonymous SNV R354W 0.018 0.021 0.024 5 21 8 0.013 7 0 0 0 0 32 63242 chr6 82461785 82461785 C T rs200972669 TENT5A Nonsynonymous SNV G25D 0.016 0.016 0.01 7 19 6 0.018 3 0 0 0 0 Benign 24.7 63243 chr16 66801379 66801382 TTTA - TERB1 N572Kfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 63244 chr16 66957498 66957498 T C RRAD Synonymous SNV A190A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.623 63245 chr16 67201759 67201759 G A rs199773890 HSF4 Nonsynonymous SNV A331T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 63246 chr7 100771723 100771723 G A rs6090 SERPINE1 Nonsynonymous SNV V17I 0.007 0.016 0.003 2 8 6 0.005 1 0 0 0 0 Benign 0.001 63247 chr16 67304654 67304654 G A rs143000650 SLC9A5 Nonsynonymous SNV C619Y 0.003 0 0.014 1 4 0 0.003 4 0 0 0 0 8.162 63248 chr16 67338357 67338357 A T rs143573730 KCTD19 Nonsynonymous SNV S140T 0.003 0 0.014 1 4 0 0.003 4 0 0 0 0 23.4 63249 chr19 11362905 11362905 C T rs757564101 DOCK6 Nonsynonymous SNV A133T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 9.083 63250 chr7 102575018 102575018 T A rs36040681 LRRC17 Nonsynonymous SNV L220M 0.021 0.021 0.024 6 25 8 0.015 7 0 0 1 0 1.098 63251 chr6 33660654 33660654 G A rs75810069 ITPR3 Synonymous SNV T2536T 0.01 0.01 0.01 6 12 4 0.015 3 0 0 0 0 Benign 13.57 63252 chr7 100224437 100224437 C G rs150303632 TFR2 Synonymous SNV S524S 0.009 0.008 0.02 5 11 3 0.013 6 0 0 0 0 Benign/Likely benign 10.34 63253 chr6 87966524 87966524 T C rs143504993 ZNF292 Synonymous SNV N1059N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.006 63254 chr6 33690597 33690597 T G rs34343647 IP6K3 Nonsynonymous SNV Y378S 0.016 0.013 0.02 9 19 5 0.023 6 0 0 0 0 17.75 63255 chr6 33690749 33690749 A G rs35862579 IP6K3 Synonymous SNV L327L 0.016 0.013 0.02 9 19 5 0.023 6 0 0 0 0 1.773 63256 chr6 33690807 33690807 G A rs34573836 IP6K3 Nonsynonymous SNV A308V 0.016 0.013 0.02 9 19 5 0.023 6 0 0 0 0 22.7 63257 chr6 154771261 154771261 C T rs41292920 CNKSR3 Nonsynonymous SNV V68M 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 32 63258 chr19 8618110 8618110 G A rs35778736 MYO1F Synonymous SNV H139H 0.035 0.029 0.017 9 41 11 0.023 5 1 0 0 0 Likely benign 4.221 63259 chr19 8651082 8651082 C A rs10418929 ADAMTS10 Nonsynonymous SNV A349S 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Benign 20.4 63260 chr6 157150450 157150450 G A rs142939952 ARID1B Synonymous SNV P544P 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.86 63261 chr19 8651335 8651335 A C rs10420313 ADAMTS10 Nonsynonymous SNV L295R 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Benign/Likely benign 26.1 63262 chr16 70508448 70508448 G A rs762940591 FCSK Nonsynonymous SNV R669Q 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 35 63263 chr6 159190936 159190936 C T rs112461897 EZR Synonymous SNV E377E 0.002 0.008 0.007 5 2 3 0.013 2 0 0 0 0 Benign 9.807 63264 chr7 112090795 112090795 G T rs767342314 IFRD1 Nonsynonymous SNV G18C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 63265 chr6 117198500 117198500 C A rs146773792 RFX6 Nonsynonymous SNV S21Y 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 Uncertain significance 22.4 63266 chr6 90642493 90642493 G A rs72923904 BACH2 Synonymous SNV P720P 0.026 0.023 0.007 6 30 9 0.015 2 0 0 0 0 8.446 63267 chr6 90660954 90660954 G C rs61754114 BACH2 Nonsynonymous SNV L291V 0.021 0.021 0.007 5 25 8 0.013 2 0 0 0 0 23.9 63268 chr18 3814148 3814148 C G rs3786431 DLGAP1 Synonymous SNV T59T 0.049 0.047 0.027 17 58 18 0.044 8 1 1 0 0 7.803 63269 chr18 5416221 5416221 C T rs9966357 EPB41L3 Nonsynonymous SNV A555T 0.04 0.023 0.037 16 47 9 0.041 11 0 0 0 1 0.001 63270 chr6 12124017 12124017 C T rs201788958 HIVEP1 Nonsynonymous SNV T1330M 0.004 0.005 0 9 5 2 0.023 0 0 0 0 0 7.698 63271 chr7 116339672 116339672 C T rs35775721 MET Synonymous SNV S178S 0.053 0.057 0.054 19 62 22 0.049 16 1 0 0 0 Benign 11.66 63272 chr6 160227053 160227053 A C rs146392472 PNLDC1 Nonsynonymous SNV E167A 0.012 0.018 0.01 5 14 7 0.013 3 0 0 0 0 11.37 63273 chr16 72992609 72992611 TCT - rs749251328 ZFHX3 E487del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 63274 chr16 72993799 72993799 G A rs62640000 ZFHX3 Synonymous SNV N82N 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 Uncertain significance 3.312 63275 chr6 160230052 160230052 A G rs73781672 PNLDC1 Synonymous SNV V215V 0.058 0.044 0.031 24 68 17 0.062 9 1 2 0 0 4.992 63276 chr19 9006684 9006684 G A rs200235837 MUC16 Synonymous SNV G13188G 0.01 0 0 2 12 0 0.005 0 0 0 0 0 4.432 63277 chr19 9006693 9006693 A T MUC16 Synonymous SNV G13185G 0.01 0 0 1 12 0 0.003 0 0 0 0 0 0.01 63278 chr19 9006694 9006694 C T MUC16 Nonsynonymous SNV G13185D 0.01 0 0 1 12 0 0.003 0 0 0 0 0 11.19 63279 chr7 121011451 121011451 C G rs140177929 FAM3C Nonsynonymous SNV G59R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 63280 chr19 15514491 15514491 - GCCATA rs757450061 AKAP8L G52_Q53insYG 0.015 0.026 0 7 18 10 0.018 0 0 1 0 0 63281 chr19 9006695 9006695 C G MUC16 Nonsynonymous SNV G13185R 0.011 0 0 1 13 0 0.003 0 0 0 0 0 0.004 63282 chr19 9006702 9006702 C T MUC16 Synonymous SNV E13182E 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 9.469 63283 chr19 9006705 9006705 C T MUC16 Synonymous SNV E13181E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.12 63284 chr19 9006711 9006711 C A MUC16 Nonsynonymous SNV Q13179H 0.009 0 0 0 10 0 0 0 0 0 0 0 11.39 63285 chr19 9006714 9006714 T C MUC16 Synonymous SNV L13178L 0.009 0.003 0 0 11 1 0 0 0 0 0 0 0.069 63286 chr19 9006720 9006720 A G rs201154170 MUC16 Synonymous SNV T13176T 0.01 0 0 2 12 0 0.005 0 0 0 0 0 0.049 63287 chr19 9006729 9006729 G A rs752894188 MUC16 Synonymous SNV F13173F 0.013 0.005 0 2 15 2 0.005 0 0 0 0 0 9.269 63288 chr19 9006738 9006738 T G rs201950797 MUC16 Synonymous SNV T13170T 0.014 0.003 0 4 16 1 0.01 0 0 0 0 0 0.765 63289 chr19 9006747 9006747 C T rs749440880 MUC16 Synonymous SNV V13167V 0.023 0.016 0 10 27 6 0.026 0 0 0 0 0 10.27 63290 chr19 9006752 9006752 G A MUC16 Synonymous SNV L13166L 0.014 0.008 0 2 16 3 0.005 0 0 0 0 0 2.317 63291 chr19 9006760 9006760 C A MUC16 Nonsynonymous SNV G13163V 0.014 0.008 0 2 16 3 0.005 0 0 0 0 0 14.62 63292 chr19 9006764 9006764 T G rs796438418 MUC16 Nonsynonymous SNV T13162P 0.023 0.008 0 4 27 3 0.01 0 0 0 0 0 0.001 63293 chr16 76523731 76523731 A G CNTNAP4 Synonymous SNV E548E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.833 63294 chr16 77228841 77228841 C T rs201669108 MON1B Nonsynonymous SNV A216V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.2 63295 chr7 12376818 12376818 T A VWDE Nonsynonymous SNV R1368W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 63296 chr6 163983061 163983061 G A rs762194004 QKI Synonymous SNV A198A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.16 63297 chr19 7174676 7174676 G A INSR Synonymous SNV T347T 0 0 0 3 0 0 0.008 0 0 0 0 0 8.701 63298 chr16 78005765 78005765 C T VAT1L Nonsynonymous SNV R366W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 63299 chr7 127251732 127251732 - A rs35434068 PAX4 0.041 0.049 0.037 19 48 19 0.049 11 0 0 0 1 63300 chr16 81056441 81056441 T G rs3743503 CENPN X205E 0.05 0.052 0.102 19 59 20 0.049 30 1 2 2 1 3.795 63301 chr16 81094951 81094951 A G rs10459872 C16orf46 Nonsynonymous SNV Y335H 0.054 0.065 0.085 18 63 25 0.046 25 2 2 3 0 0.038 63302 chr16 81095099 81095099 C G rs2287995 C16orf46 Synonymous SNV A285A 0.055 0.065 0.085 18 64 25 0.046 25 2 2 3 0 8.902 63303 chr19 16872794 16872794 C T rs61995711 NWD1 Synonymous SNV L454L 0.022 0.042 0.003 7 26 16 0.018 1 0 1 0 0 5.312 63304 chr16 81124275 81124275 G A rs8177876 GCSH Synonymous SNV F53F 0.046 0.052 0.065 15 54 20 0.038 19 1 0 2 0 11.23 63305 chr18 13001577 13001577 G C rs374489828 CEP192 Nonsynonymous SNV D96H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 63306 chr6 167754501 167754501 G A rs200555638 TTLL2 Synonymous SNV G371G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 63307 chr7 100551673 100551673 G A rs201454622 MUC3A Nonsynonymous SNV G752R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 14.44 63308 chr19 7743821 7743821 A G rs72996468 MCEMP1 Nonsynonymous SNV I167V 0.077 0.091 0.037 34 90 35 0.087 11 11 5 2 4 0.003 63309 chr6 133073844 133073844 C T rs33980664 VNN2 Synonymous SNV P194P 0.024 0.042 0.037 8 28 16 0.021 11 1 1 2 0 13.74 63310 chr6 135644431 135644431 C G rs544992761 AHI1 Nonsynonymous SNV R1066P 0 0 0 1 0 0 0.003 0 0 0 0 0 34 63311 chr16 839569 839569 G C rs201215455 CHTF18 Nonsynonymous SNV V154L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 63312 chr16 84050259 84050259 C G rs113733057 SLC38A8 Nonsynonymous SNV G343R 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Benign 23.4 63313 chr6 44222664 44222664 C T rs142711071 SLC35B2 Nonsynonymous SNV G227R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 20.2 63314 chr6 142468446 142468446 C A rs137966407 VTA1 Nonsynonymous SNV P8T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.8 63315 chr18 21461956 21461956 T C rs140561492 LAMA3 Synonymous SNV Y114Y 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.513 63316 chr6 170871047 170871049 CAG - rs758734033 TBP Q75del 0.008 0.013 0.003 5 9 5 0.013 1 0 0 0 0 63317 chr19 8367359 8367359 G C rs2227289 CD320 Synonymous SNV T237T 0.045 0.068 0.044 36 53 26 0.092 13 2 0 0 3 Benign 0.061 63318 chr19 8367709 8367709 C T rs2336573 CD320 Nonsynonymous SNV G178R 0.046 0.068 0.044 36 54 26 0.092 13 2 0 0 3 Benign 7.506 63319 chr6 17637958 17637958 G A rs2229509 NUP153 Synonymous SNV T588T 0.008 0.013 0.027 9 9 5 0.023 8 0 0 0 0 12.06 63320 chr16 84486748 84486748 A G rs767896887 ATP2C2 Synonymous SNV R461R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 63321 chr19 8368758 8368758 G A rs2232784 CD320 Synonymous SNV S119S 0.046 0.068 0.044 37 54 26 0.095 13 2 0 0 3 Benign 1.868 63322 chr6 17637979 17637979 A C rs61748574 NUP153 Nonsynonymous SNV D581E 0.006 0.01 0.014 5 7 4 0.013 4 0 0 0 0 Likely benign 0.002 63323 chr19 8368794 8368794 C A rs2232783 CD320 Synonymous SNV T107T 0.046 0.068 0.044 37 54 26 0.095 13 2 0 0 3 Benign 19.95 63324 chr19 8373152 8373152 T C rs2232775 CD320 Nonsynonymous SNV Q8R 0.044 0.06 0.051 36 52 23 0.092 15 2 0 0 3 Benign 0.001 63325 chr6 144854342 144854342 G A rs35676466 UTRN Nonsynonymous SNV G2060D 0.014 0.003 0.003 1 17 1 0.003 1 0 0 0 0 Benign 10.31 63326 chr7 134819951 134819951 G A rs199898448 AGBL3 Nonsynonymous SNV E342K 0 0.005 0 0 0 2 0 0 0 0 0 0 9.401 63327 chr6 144860448 144860448 G A rs144822430 UTRN Nonsynonymous SNV E2130K 0.034 0.036 0.051 13 40 14 0.033 15 1 0 1 0 Benign 14.9 63328 chr6 147013962 147013962 G A rs940261634 ADGB Synonymous SNV E496E 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.203 63329 chr18 28919784 28919784 G A DSG1 Nonsynonymous SNV E495K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 63330 chr19 8564288 8564288 C T rs58466313 PRAM1 Nonsynonymous SNV G135E 0.02 0.018 0.02 7 23 7 0.018 6 1 0 0 0 0.038 63331 chr6 18256625 18256625 A G rs17336208 DEK Nonsynonymous SNV V106A 0.075 0.052 0.065 17 88 20 0.044 19 0 2 0 1 0.048 63332 chr19 8564560 8564560 C G rs78618855 PRAM1 Synonymous SNV L44L 0.002 0 0 3 2 0 0.008 0 1 0 0 0 0.451 63333 chr6 20212370 20212370 G A rs144286877 MBOAT1 Synonymous SNV D32D 0.02 0.013 0.017 8 24 5 0.021 5 0 0 0 0 20.3 63334 chr19 8587307 8587307 G A rs187225042 MYO1F Synonymous SNV D1054D 0 0 0 3 0 0 0.008 0 0 0 0 0 10.39 63335 chr19 8587418 8587418 C A rs55920976 MYO1F Nonsynonymous SNV K1017N 0 0 0 3 0 0 0.008 0 0 0 0 0 18.01 63336 chr7 100550505 100550505 C T rs74715834 MUC3A Synonymous SNV S362S 0.03 0.023 0.296 10 35 9 0.026 87 0 0 0 0 6.063 63337 chr7 100550507 100550507 C T rs139308151 MUC3A Nonsynonymous SNV T363I 0.027 0.018 0.299 6 32 7 0.015 88 0 0 0 0 6.577 63338 chr19 8591778 8591778 G T rs114946243 MYO1F Nonsynonymous SNV A835D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 16.46 63339 chr6 22287745 22287745 C T rs6239 PRL Synonymous SNV E190E 0.045 0.036 0.024 13 53 14 0.033 7 3 0 0 0 15.4 63340 chr19 8591779 8591779 C T rs115485773 MYO1F Nonsynonymous SNV A835T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 22.7 63341 chr7 100551235 100551235 C T rs73163756 MUC3A Nonsynonymous SNV L606F 0.016 0.018 0 3 19 7 0.008 0 0 0 0 0 2.907 63342 chr7 100551239 100551239 G C rs76539110 MUC3A Nonsynonymous SNV S607T 0.025 0.034 0 7 29 13 0.018 0 0 0 0 0 0.175 63343 chr6 149922850 149922850 C T rs141033986 KATNA1 Synonymous SNV T180T 0.018 0.034 0.007 9 21 13 0.023 2 0 2 0 0 12.48 63344 chr6 24357796 24357796 G A rs33943110 DCDC2 Synonymous SNV A61A 0.071 0.055 0.071 33 83 21 0.085 21 3 0 2 1 Benign 11.51 63345 chr19 18180447 18180447 C T rs61734350 IL12RB1 Synonymous SNV T366T 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign/Likely benign 11.6 63346 chr18 30804839 30804839 C G rs144365664 CCDC178 Nonsynonymous SNV R573T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.62 63347 chr19 11034553 11034553 C T rs778397143 YIPF2 Nonsynonymous SNV V164M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 63348 chr19 11304389 11304389 G A rs766779587 KANK2 Nonsynonymous SNV R123W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 63349 chr19 11516007 11516007 T G rs10416704 RGL3 Synonymous SNV A364A 0.062 0.07 0.071 32 73 27 0.082 21 2 1 2 0 3.781 63350 chr7 100815816 100815816 C T rs12540617 NAT16 Synonymous SNV E218E 0.03 0.026 0.034 17 35 10 0.044 10 1 0 0 0 16.3 63351 chr19 11979305 11979305 C G rs72994214 ZNF439 Nonsynonymous SNV A338G 0.035 0.039 0.041 13 41 15 0.033 12 0 0 1 0 16.16 63352 chr19 9009323 9009323 C A rs36191915 MUC16 Nonsynonymous SNV L13050F 0.076 0.07 0 24 89 27 0.062 0 0 0 0 0 21.1 63353 chr19 12146456 12146456 C A rs145945929 ZNF433-AS1 0.028 0.034 0.02 7 33 13 0.018 6 0 0 0 0 2.06 63354 chr18 39613801 39613801 A G rs61755376 PIK3C3 Synonymous SNV L510L 0.003 0.003 0 2 3 1 0.005 0 1 0 0 0 9.404 63355 chr6 154360864 154360864 - CGG rs576853670 OPRM1 G63_S64insG 0.016 0.008 0.007 16 19 3 0.041 2 0 0 0 0 63356 chr6 54735144 54735144 A T FAM83B Nonsynonymous SNV I34F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.96 63357 chr6 155153123 155153123 C T rs776257155 SCAF8 Nonsynonymous SNV P804S 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 15.17 63358 chr6 27114425 27114425 G A rs202101103 HIST1H2BK Synonymous SNV P51P 0.01 0.016 0.034 4 12 6 0.01 10 0 0 0 0 13.96 63359 chr7 106938638 106938638 T C rs35393416 COG5 Nonsynonymous SNV H452R 0.014 0.021 0.007 7 17 8 0.018 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 63360 chr6 27114488 27114488 G C rs12207760 H2BC12 Synonymous SNV R30R 0.013 0.013 0.037 7 15 5 0.018 11 0 0 0 0 7.923 63361 chr7 106938653 106938653 T C rs41276187 COG5 Nonsynonymous SNV Y447C 0.014 0.016 0.007 8 17 6 0.021 2 0 1 0 0 Conflicting interpretations of pathogenicity 3.951 63362 chr19 13220749 13220749 C T rs117741379 TRMT1 Synonymous SNV A101A 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Benign 13.14 63363 chr19 20728636 20728636 C A rs9653154 ZNF737 Nonsynonymous SNV V125L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 7.678 63364 chr6 157505418 157505418 C T rs142391292 ARID1B Synonymous SNV T423T 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign/Likely benign 11.68 63365 chr6 157522171 157522171 T G rs141783755 ARID1B Synonymous SNV P771P 0.009 0.013 0.01 7 11 5 0.018 3 0 0 0 0 Benign 0.885 63366 chr7 143018908 143018908 G A rs147317366 CLCN1 Synonymous SNV A221A 0.01 0.01 0.01 2 12 4 0.005 3 0 0 0 0 Benign/Likely benign 12.77 63367 chr7 143021536 143021536 G A rs141521078 CLCN1 Synonymous SNV T268T 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign/Likely benign 16.12 63368 chr7 107600211 107600211 G C rs80095409 LAMB1 Nonsynonymous SNV R795G 0.036 0.023 0.02 14 42 9 0.036 6 0 0 0 0 Benign 34 63369 chr6 599209 599209 T C rs61748570 EXOC2 Synonymous SNV A253A 0.032 0.042 0.054 27 38 16 0.069 16 2 0 0 1 0.083 63370 chr6 27834917 27834917 C G rs779982283 H1-5 Nonsynonymous SNV A131P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 63371 chr18 46284569 46284569 C T rs146792603 CTIF Synonymous SNV D288D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.497 63372 chr19 21476792 21476792 G A rs549040753 ZNF708 Nonsynonymous SNV H262Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.5 63373 chr7 1097430 1097430 G A rs61742514 GPR146 Synonymous SNV A93A 0.016 0.013 0.014 5 19 5 0.013 4 0 0 0 0 1.313 63374 chr7 143208225 143208225 G A rs10260451 OR10AC1 Nonsynonymous SNV T260I 0.075 0.076 0 26 88 29 0.067 0 4 2 0 0 2.174 63375 chr7 111398794 111398794 C T rs370815463 DOCK4 Synonymous SNV Q1396Q 0.012 0.008 0 9 14 3 0.023 0 0 0 0 0 Likely benign 14.09 63376 chr6 656810 656810 A G rs61748571 HUS1B Synonymous SNV G45G 0.062 0.052 0.088 20 73 20 0.051 26 3 1 2 2 1.094 63377 chr19 21992247 21992247 T C rs570770557 ZNF43 Nonsynonymous SNV R133G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.073 63378 chr16 89656321 89656321 G A rs777532913 CPNE7 Nonsynonymous SNV A360T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 63379 chr16 89940090 89940090 C G rs1036047523 TCF25 Synonymous SNV A5A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 63380 chr16 89940232 89940232 A C rs13338056 TCF25 Nonsynonymous SNV K53Q 0.006 0.01 0.014 0 7 4 0 4 0 1 0 0 14.64 63381 chr19 14951950 14951950 A T rs139821292 OR7A10 Nonsynonymous SNV V247D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 63382 chr6 3111166 3111166 C T rs55861377 RIPK1 Nonsynonymous SNV A523V 0.014 0.016 0.014 12 17 6 0.031 4 0 1 0 0 7.05 63383 chr16 90025640 90025640 G C rs8166 DEF8 Nonsynonymous SNV M197I 0.046 0.049 0.027 17 54 19 0.044 8 0 0 0 0 0.694 63384 chr16 90037882 90037882 C T rs149486753 CENPBD1 Nonsynonymous SNV C150Y 0.033 0.031 0.01 11 39 12 0.028 3 0 0 0 0 20.5 63385 chr6 3111167 3111167 T C rs55782213 RIPK1 Synonymous SNV A523A 0.014 0.016 0.014 12 17 6 0.031 4 0 1 0 0 1.464 63386 chr16 90038228 90038228 - A rs151289005 CENPBD1 Stop gain E35* 0.033 0.034 0.014 12 39 13 0.031 4 0 0 0 0 63387 chr7 100647774 100647774 C G rs111307353 MUC12 Nonsynonymous SNV P4644A 0.015 0.008 0.02 10 18 3 0.026 6 0 0 0 0 0.001 63388 chr16 984444 984444 G A rs73483809 LMF1-AS1 0 0 0.051 0 0 0 0 15 0 0 1 0 4.58 63389 chr16 9858758 9858760 CTT - rs766019656 GRIN2A K881del 0 0 0.007 0 0 0 0 2 0 0 0 0 63390 chr7 100647976 100647976 C G rs76020410 MUC12 Nonsynonymous SNV S4711C 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 12.66 63391 chr19 15131276 15131276 C G rs117318288 CCDC105 Nonsynonymous SNV L227V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.8 63392 chr17 10441114 10441114 A G rs958742650 MYH2 Synonymous SNV N485N 0 0 0.007 0 0 0 0 2 0 0 0 0 11.27 63393 chr7 117232249 117232249 T C rs751504707 CFTR Synonymous SNV P676P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 2.366 63394 chr7 117251780 117251780 A T rs1800118 CFTR Synonymous SNV T1095T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.013 63395 chr6 160484463 160484463 G A rs151070125 IGF2R Synonymous SNV V1229V 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 14.38 63396 chr7 150217073 150217073 G T rs559144497 GIMAP7 Nonsynonymous SNV S4I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 63397 chr19 9213594 9213594 C T rs143603997 OR7G2 Nonsynonymous SNV G130D 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 1.631 63398 chr18 56182269 56182269 G A rs775566451 ALPK2 Synonymous SNV Y1995Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.118 63399 chr6 160575837 160575837 G A rs34059508 SLC22A1 Nonsynonymous SNV G465R 0.014 0.016 0.017 4 17 6 0.01 5 0 0 0 0 29.1 63400 chr18 56204489 56204489 C G rs3809975 ALPK2 Nonsynonymous SNV S977T 0.039 0.034 0.054 15 46 13 0.038 16 1 0 1 0 16.98 63401 chr17 14110236 14110236 G A rs2230355 COX10 Synonymous SNV S346S 0.004 0.016 0.017 6 5 6 0.015 5 0 0 0 0 Benign/Likely benign 14.73 63402 chr17 1438508 1438508 G A rs200171855 PITPNA Synonymous SNV L205L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.382 63403 chr17 1489236 1489236 G A rs117776467 SLC43A2 Synonymous SNV S259S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 9.984 63404 chr7 150700291 150700291 G A rs79467411 NOS3 Nonsynonymous SNV C602Y 0.008 0.021 0 13 9 8 0.033 0 3 1 0 3 Benign 1.965 63405 chr19 9967957 9967957 C T rs141742593 OLFM2 Nonsynonymous SNV A110T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.4 63406 chr19 10076990 10076990 G C rs3745581 COL5A3 Nonsynonymous SNV I1594M 0.012 0.018 0.007 3 14 7 0.008 2 0 1 0 0 3.365 63407 chr7 124386655 124386655 G A rs149031046 GPR37 Nonsynonymous SNV T589M 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 25.7 63408 chr6 35918965 35918965 C T rs116200048 SLC26A8 Nonsynonymous SNV R711Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 15.56 63409 chr7 150764046 150764046 G A rs139095314 SLC4A2 Nonsynonymous SNV R302Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24 63410 chr6 16327903 16327903 - TGA rs780549091 ATXN1 Q212_Q213insH 0.02 0.013 0.003 6 24 5 0.015 1 0 0 0 0 63411 chr17 16221167 16221167 T C rs766819075 PIGL Nonsynonymous SNV L202P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 63412 chr19 15965621 15965621 G A rs568107292 CLEC4O Nonsynonymous SNV A33V 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 3.935 63413 chr19 34706531 34706531 A G rs73929373 LSM14A Nonsynonymous SNV N249S 0.031 0.021 0.017 11 36 8 0.028 5 1 0 0 0 9.9 63414 chr17 16342833 16342833 T C rs11871958 SNORD49B 0 0 0.269 0 0 0 0 79 0 0 14 0 8.58 63415 chr6 86181052 86181052 T C rs772487574 NT5E Synonymous SNV H220H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.154 63416 chr17 16344524 16344524 A - rs146361133 SNHG29 0 0 0.139 0 0 0 0 41 0 0 2 0 63417 chr6 36334732 36334732 G A rs2234081 ETV7 Synonymous SNV Y125Y 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 6.173 63418 chr6 166571866 166571866 G A rs375588439 TBXT Synonymous SNV Y357Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.165 63419 chr7 1523680 1523680 G A rs200026887 INTS1 Nonsynonymous SNV R1130C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.2 63420 chr7 111580166 111580166 T C rs144867634 DOCK4 Nonsynonymous SNV M326V 0.02 0.013 0.017 5 23 5 0.013 5 2 0 0 0 12.82 63421 chr19 35646481 35646481 C T rs781491924 FXYD5 Nonsynonymous SNV L10F 0.018 0.016 0 4 21 6 0.01 0 0 0 0 0 26.5 63422 chr6 36867376 36867376 C T rs73732050 C6orf89 Synonymous SNV P59P 0.026 0.016 0.041 5 31 6 0.013 12 0 0 1 0 5.891 63423 chr7 128491390 128491390 A G rs184018403 FLNC Nonsynonymous SNV I1849V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.28 63424 chr6 37183026 37183026 G T rs72849694 TMEM217 Nonsynonymous SNV P213Q 0.017 0.01 0.01 6 20 4 0.015 3 0 0 0 0 0.068 63425 chr19 16977364 16977364 C T rs138346712 SIN3B Synonymous SNV D191D 0.019 0.013 0 1 22 5 0.003 0 0 0 0 0 10.69 63426 chr19 36003962 36003962 T C rs7247001 DMKN Nonsynonymous SNV N139S 0.083 0.065 0.102 40 98 25 0.103 30 4 0 1 1 0.02 63427 chr19 17115168 17115168 G A rs62126004 CPAMD8 Synonymous SNV S196S 0.021 0.016 0.037 10 25 6 0.026 11 1 0 0 0 9.714 63428 chr6 168376930 168376971 AGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG - rs758303668 HGC6.3 S121_S134del 0.026 0.021 0.01 9 31 8 0.023 3 10 2 1 2 63429 chr17 18030426 18030426 C T rs146245515 MYO15A Synonymous SNV L1327L 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.59 63430 chr6 168377029 168377029 G A rs762609622 HGC6.3 Nonsynonymous SNV P102S 0.034 0.042 0.024 17 40 16 0.044 7 10 4 1 2 2.265 63431 chr19 10886473 10886473 C T rs140036663 DNM2 Synonymous SNV I160I 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 15.87 63432 chr7 11871469 11871469 - GCAGCG rs759853992 THSD7A L34_L35insPL 0.032 0.034 0.01 15 37 13 0.038 3 1 0 0 1 63433 chr19 17311226 17311226 G A rs117099942 MYO9B Nonsynonymous SNV G1455S 0.048 0.034 0.048 22 56 13 0.056 14 2 0 0 2 Benign 3.498 63434 chr7 157931003 157931003 C T rs77347072 PTPRN2 Nonsynonymous SNV R334H 0.014 0.021 0.003 3 17 8 0.008 1 0 0 0 0 Benign 0.034 63435 chr6 96990826 96990826 A T rs142021059 UFL1 Stop gain K446X 0.007 0.003 0 0 8 1 0 0 0 0 0 0 41 63436 chr7 121653177 121653177 A G rs61732006 PTPRZ1 Synonymous SNV T1359T 0.039 0.049 0.031 22 46 19 0.056 9 2 1 0 1 3.451 63437 chr7 121653250 121653250 G A rs61732005 PTPRZ1 Nonsynonymous SNV D1384N 0.037 0.042 0.031 20 43 16 0.051 9 2 0 0 0 16.13 63438 chr19 11471990 11471990 C T rs143046204 PLPPR2 Synonymous SNV R138R 0.014 0.023 0.024 11 17 9 0.028 7 0 0 0 0 18.25 63439 chr6 170592563 170592565 TGT - rs573197356 DLL1 D601_I602delinsV 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 63440 chr6 17541340 17541340 T C rs35654321 CAP2 Synonymous SNV H209H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.004 63441 chr6 99849204 99849204 G A rs752885417 PNISR Nonsynonymous SNV R526C 0.01 0.003 0 0 12 1 0 0 0 0 0 0 22.7 63442 chr7 12395932 12395932 A G VWDE Synonymous SNV L1069L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 9.833 63443 chr7 100013663 100013663 A G rs752439815 ZCWPW1 Nonsynonymous SNV L230P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.057 63444 chr19 11891230 11891230 A G rs747871413 ZNF441 Nonsynonymous SNV I197M 0 0 0 3 0 0 0.008 0 0 0 0 0 0.631 63445 chr7 16445813 16445813 G A rs61734789 CRPPA Nonsynonymous SNV A136V 0.015 0.013 0.007 9 18 5 0.023 2 0 0 0 0 Benign 22.8 63446 chr19 12224192 12224192 C T rs17001773 ZNF788P Synonymous SNV G610G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.3 63447 chr6 18212794 18212794 A T rs41267732 KDM1B Nonsynonymous SNV M416L 0.055 0.036 0.041 9 65 14 0.023 12 0 2 0 0 11.11 63448 chr19 12800796 12800796 T C rs750290672 FBXW9 Nonsynonymous SNV S338G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.64 63449 chr19 12814439 12814439 A C rs118055629 SNORD135 0.017 0.016 0.003 9 20 6 0.023 1 0 0 0 0 8.671 63450 chr19 17638121 17638121 G A rs138735905 NIBAN3 Nonsynonymous SNV G22E 0.056 0.047 0.024 27 66 18 0.069 7 0 0 0 4 0.32 63451 chr19 13318489 13318489 C A CACNA1A Nonsynonymous SNV G2387W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 63452 chr19 17752216 17752216 G C UNC13A Nonsynonymous SNV I874M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 25 63453 chr19 13419235 13419235 G C rs16012 CACNA1A Synonymous SNV V593V 0.003 0 0.014 5 4 0 0.013 4 0 0 0 0 Benign 10.36 63454 chr6 42832901 42832901 T C rs115631038 BICRAL Nonsynonymous SNV L986S 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 11.16 63455 chr7 140179061 140179061 G T rs542039727 MKRN1 Synonymous SNV P28P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 12.87 63456 chr7 128320161 128320161 G C rs371631002 FAM71F2 Nonsynonymous SNV S231T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.192 63457 chr19 14044067 14044067 G A rs10423549 PODNL1 Synonymous SNV A239A 0.013 0.005 0.017 4 15 2 0.01 5 0 0 0 0 12.89 63458 chr19 14048728 14048728 A G rs138002759 PODNL1 Nonsynonymous SNV L37S 0.013 0.005 0.017 4 15 2 0.01 5 0 0 0 0 0.868 63459 chr19 14067016 14067016 G A rs77916080 DCAF15 Synonymous SNV V185V 0.014 0.005 0.017 4 16 2 0.01 5 0 0 0 0 7.541 63460 chr19 14070085 14070085 T C rs7245761 DCAF15 Nonsynonymous SNV V338A 0.014 0.005 0.024 4 17 2 0.01 7 0 0 1 0 0.067 63461 chr7 128441545 128441545 G C rs3816887 CCDC136 Nonsynonymous SNV D218H 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 29.2 63462 chr6 43250565 43250565 G C rs578249848 TTBK1 Nonsynonymous SNV R696P 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 26.5 63463 chr7 128441556 128441556 G C rs3816886 CCDC136 Synonymous SNV G221G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 12.45 63464 chr7 140378958 140378958 G C rs777714947 ADCK2 Nonsynonymous SNV D362H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 27.4 63465 chr7 128454866 128454866 G A rs61730174 CCDC136 Nonsynonymous SNV G980R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 25.9 63466 chr7 128829152 128829152 G A rs541359801 SMO Nonsynonymous SNV V54M 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 23.5 63467 chr6 25819768 25819768 C T rs146175657 SLC17A1 Nonsynonymous SNV R167Q 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 11.58 63468 chr6 43481121 43481121 C T rs2231767 YIPF3 Synonymous SNV G170G 0.025 0.01 0.017 5 29 4 0.013 5 0 0 0 0 10.39 63469 chr19 281468 281468 G A rs34708574 PLPP2 Nonsynonymous SNV R263W 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 23.6 63470 chr6 43497064 43497064 G A rs1111785 POLR1C Nonsynonymous SNV G334R 0.055 0.068 0.007 21 65 26 0.054 2 2 0 1 0 0.265 63471 chr6 43581935 43581935 A G rs9333555 POLH Nonsynonymous SNV M471V 0.025 0.01 0.017 5 29 4 0.013 5 0 0 0 0 Benign/Likely benign 0.001 63472 chr6 25966765 25966765 C T rs150720187 TRIM38 Synonymous SNV T5T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 5.599 63473 chr6 43590408 43590408 G A rs16896609 GTPBP2 Synonymous SNV L389L 0.059 0.068 0.078 21 69 26 0.054 23 2 0 1 0 9.727 63474 chr19 14877845 14877845 C G rs10420288 ADGRE2 Synonymous SNV T144T 0.007 0.013 0.003 12 8 5 0.031 1 2 1 0 1 10.06 63475 chr6 43608048 43608048 C T rs35249206 MAD2L1BP Synonymous SNV S201S 0.025 0.01 0.017 5 29 4 0.013 5 0 0 0 0 14.87 63476 chr19 14951889 14951889 A G rs3752194 OR7A10 Synonymous SNV N267N 0.072 0.063 0.078 32 85 24 0.082 23 5 0 2 3 0.023 63477 chr7 142563866 142563866 C T rs55991560 EPHB6 Synonymous SNV S126S 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 10.21 63478 chr17 2202478 2202478 C T rs147802850 SMG6 Synonymous SNV T523T 0 0 0.007 0 0 0 0 2 0 0 0 0 8.203 63479 chr19 15198363 15198363 A C rs76524797 OR1I1 Nonsynonymous SNV M163L 0.009 0.013 0 5 10 5 0.013 0 0 0 0 0 20.4 63480 chr6 26384106 26384106 G A rs115247877 BTN2A2 Synonymous SNV L19L 0.02 0.01 0.027 9 24 4 0.023 8 1 0 0 0 7.397 63481 chr6 26392629 26392629 G A rs142803339 BTN2A2 Nonsynonymous SNV A126T 0.02 0.01 0.027 9 24 4 0.023 8 1 0 0 0 25.8 63482 chr19 15198720 15198720 A T rs75323205 OR1I1 Nonsynonymous SNV I282F 0.009 0.013 0 5 10 5 0.013 0 0 0 0 0 24.5 63483 chr7 143095153 143095153 C T rs11768549 EPHA1 Nonsynonymous SNV R492Q 0.015 0.01 0.007 9 18 4 0.023 2 0 0 0 0 17.39 63484 chr6 26452036 26452036 C G rs139835450 BTN3A3 Synonymous SNV V174V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.236 63485 chr6 26452050 26452050 A G BTN3A3 Nonsynonymous SNV N179S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 63486 chr6 26452056 26452056 C T rs755373159 BTN3A3 Nonsynonymous SNV T181I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.45 63487 chr6 26452057 26452057 A G BTN3A3 Synonymous SNV T181T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 63488 chr6 26452062 26452062 G A rs779329350 BTN3A3 Nonsynonymous SNV G183E 0 0 0 1 0 0 0.003 0 0 0 0 0 25 63489 chr6 26452069 26452069 T C rs142830190 BTN3A3 Synonymous SNV H185H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 63490 chr6 26459997 26459997 G A rs143104579 BTN2A1 Nonsynonymous SNV R63H 0.021 0.023 0.017 13 25 9 0.033 5 1 0 0 1 18.01 63491 chr7 143747904 143747904 G A OR2A5 Nonsynonymous SNV R137K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.44 63492 chr19 19256735 19256735 G A BORCS8-MEF2B, MEF2B Nonsynonymous SNV P289L 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 63493 chr6 26505357 26505357 C T BTN1A1 Nonsynonymous SNV T211I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.051 63494 chr19 15349764 15349764 C G rs113881069 BRD4 Nonsynonymous SNV E1270D 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Likely benign 16.14 63495 chr19 19369615 19369615 G T HAPLN4 Nonsynonymous SNV F178L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 63496 chr19 39214633 39214633 C T rs139575917 ACTN4 Synonymous SNV R536R 0.021 0.018 0.017 4 25 7 0.01 5 0 0 0 0 Benign 15.34 63497 chr7 137092657 137092657 C T rs1019720808 DGKI Nonsynonymous SNV G962S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 63498 chr19 19414176 19414176 C A rs146659898 SUGP1 Synonymous SNV S248S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.07 63499 chr6 28213660 28213660 A G rs138392767 ZKSCAN4 Nonsynonymous SNV I136T 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 0.002 63500 chr19 19651183 19651183 C T rs200679414 CILP2 Nonsynonymous SNV R112C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.6 63501 chr7 138417791 138417791 A G rs3807153 ATP6V0A4 Nonsynonymous SNV M580T 0.049 0.029 0.054 11 57 11 0.028 16 2 0 1 1 Benign 24.1 63502 chr19 39669105 39669105 G T rs34569811 PAK4 Synonymous SNV V401V 0.051 0.073 0.027 35 60 28 0.09 8 1 0 0 1 0.425 63503 chr7 148921721 148921721 G T rs530338727 ZNF282 Synonymous SNV P666P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.659 63504 chr7 148947363 148947363 C A rs144451687 ZNF212 Synonymous SNV A46A 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 14.16 63505 chr6 3259296 3259296 C G rs201036341 PSMG4 Nonsynonymous SNV L14V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 63506 chr7 149499026 149499026 C T rs114803807 SSPO 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 10.68 63507 chr17 2995572 2995572 G A rs4300683 OR1D2 Nonsynonymous SNV T240I 0.043 0.034 0.041 18 50 13 0.046 12 0 0 0 0 25.7 63508 chr17 30678838 30678838 C T rs367749268 ZNF207 Synonymous SNV I25I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 63509 chr17 30695031 30695031 C T ZNF207 Synonymous SNV L357L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 63510 chr17 3214181 3214181 T G rs231678 OR3A4P 0 0 0.35 0 0 0 0 103 0 0 19 0 12.31 63511 chr19 22270882 22270882 T C rs78380474 ZNF257 Synonymous SNV N34N 0.012 0.008 0 3 14 3 0.008 0 0 0 0 0 0.007 63512 chr17 33475426 33475426 C T rs16970656 UNC45B Synonymous SNV N48N 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 11.72 63513 chr6 3264045 3264045 T C rs775190675 PSMG4 Nonsynonymous SNV L101S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.509 63514 chr19 1622138 1622138 G A rs370087169 TCF3 Nonsynonymous SNV P246L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.3 63515 chr6 33626599 33626599 G A rs376271118 ITPR3 Synonymous SNV G174G 0.002 0.005 0 6 2 2 0.015 0 0 0 0 0 5.34 63516 chr19 32083223 32083223 A G rs11880125 THEG5 Nonsynonymous SNV N13D 0.014 0.021 0.014 8 17 8 0.021 4 0 0 0 0 4.77 63517 chr19 32083250 32083250 T C rs79323410 THEG5 0.014 0.021 0.01 7 16 8 0.018 3 0 0 0 0 1.33 63518 chr19 2226655 2226655 C A rs113164803 DOT1L Nonsynonymous SNV L1379M 0.033 0.026 0.024 13 39 10 0.033 7 1 0 0 0 15.81 63519 chr19 17366391 17366391 G A rs750844210 USHBP1 Nonsynonymous SNV R435W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.2 63520 chr19 2247826 2247826 G T rs139182118 SF3A2 Nonsynonymous SNV G226C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23.2 63521 chr19 17384818 17384818 C T rs376718985 BABAM1 Synonymous SNV N150N 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 10.73 63522 chr7 150741107 150741107 C T rs772265141 ABCB8 Synonymous SNV I517I 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 17.1 63523 chr6 55639028 55639028 G A rs41271330 BMP5 Synonymous SNV N282N 0.04 0.063 0.061 24 47 24 0.062 18 1 1 0 2 3.459 63524 chr7 4185457 4185457 G A rs147404205 SDK1 Synonymous SNV P1444P 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 10.81 63525 chr7 143095835 143095835 G A rs769791439 EPHA1 Nonsynonymous SNV L399F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.2 63526 chr6 56328406 56328406 G A rs201429821 DST Nonsynonymous SNV A4992V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.91 63527 chr19 2796094 2796094 G A THOP1 Nonsynonymous SNV D132N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.01 63528 chr7 151878606 151878606 T G rs73161892 KMT2C Synonymous SNV S2113S 0.009 0 0.007 3 10 0 0.008 2 0 0 0 0 Benign 2.757 63529 chr6 56485023 56485023 T C rs35497571 DST Nonsynonymous SNV K1270R 0.012 0.021 0.017 2 14 8 0.005 5 0 0 0 0 Benign/Likely benign 11.87 63530 chr19 42342293 42342293 G T rs142921466 LYPD4 Nonsynonymous SNV S50Y 0.018 0.016 0 11 21 6 0.028 0 0 0 0 1 21.4 63531 chr6 65016935 65016935 A T rs201580493 EYS Nonsynonymous SNV V2040D 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 63532 chr19 3449124 3449124 C T rs149374084 NFIC Synonymous SNV I357I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.39 63533 chr19 3734399 3734399 C T rs146845184 TJP3 Nonsynonymous SNV R318W 0.004 0.005 0 0 5 2 0 0 0 0 0 0 18.7 63534 chr19 42914764 42914764 C T rs1018338752 LIPE Nonsynonymous SNV G372R 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 27.5 63535 chr7 44611157 44611157 C T rs41279636 DDX56 Nonsynonymous SNV R275H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 63536 chr7 149133762 149133762 T C rs199689278 ZNF777 Nonsynonymous SNV M415V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.996 63537 chr6 7189454 7189454 G A rs56233031 RREB1 Synonymous SNV S108S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 13.73 63538 chr17 3749444 3749444 G T rs535761775 NCBP3 Nonsynonymous SNV S25Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.6 63539 chr7 149484881 149484881 G A rs373484169 SSPO 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.569 63540 chr6 7329417 7329417 C T rs62387870 CAGE1 Nonsynonymous SNV R819Q 0.105 0.12 0.041 45 123 46 0.115 12 9 3 3 3 7.606 63541 chr19 18368259 18368259 C T rs947889138 IQCN Nonsynonymous SNV G1279R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.537 63542 chr17 37884099 37884099 C T rs149815705 ERBB2 Synonymous SNV A1190A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 63543 chr17 38062390 38062390 C T rs35266519 GSDMB Nonsynonymous SNV D266N 0.004 0.008 0.014 6 5 3 0.015 4 0 0 0 0 10.76 63544 chr17 3808223 3808223 C T rs142687602 P2RX1 Nonsynonymous SNV G96R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 63545 chr17 38244509 38244509 C T rs41283431 THRA Synonymous SNV D246D 0.014 0.005 0.017 2 16 2 0.005 5 0 0 0 0 Benign 13.48 63546 chr7 16606021 16606021 C G LRRC72 Nonsynonymous SNV R171G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 63547 chr6 75836079 75836079 A G rs200450866 COL12A1 Nonsynonymous SNV Y986H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 25.2 63548 chr7 17379110 17379110 G A rs2066853 AHR Nonsynonymous SNV R554K 0.078 0.065 0.126 26 92 25 0.067 37 2 0 2 2 0.478 63549 chr6 7602857 7602857 C T rs9502622 SNRNP48 Synonymous SNV D199D 0.017 0.021 0.071 4 20 8 0.01 21 2 0 0 0 10.76 63550 chr7 150066900 150066900 A G rs10237887 REPIN1 Nonsynonymous SNV R34G 0.026 0.036 0.024 14 30 14 0.036 7 1 0 0 1 19.65 63551 chr17 38956007 38956007 A G rs142165420 KRT28 Nonsynonymous SNV C47R 0.028 0.023 0.024 10 33 9 0.026 7 1 0 0 0 18.48 63552 chr19 19741292 19741292 C G rs138816376 GMIP Nonsynonymous SNV G814R 0.013 0.008 0.014 3 15 3 0.008 4 0 0 0 0 12.49 63553 chr7 20682884 20682884 C T rs17143212 ABCB5 Nonsynonymous SNV T131I 0.034 0.021 0.031 10 40 8 0.026 9 1 1 0 0 23.7 63554 chr19 36244128 36244128 C T rs961580293 LIN37 Synonymous SNV L126L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.38 63555 chr19 36259415 36259415 G A rs35178229 PROSER3 Nonsynonymous SNV E471K 0.049 0.052 0.068 26 58 20 0.067 20 2 1 1 0 20.6 63556 chr7 102109034 102109034 G C LRWD1 Nonsynonymous SNV G166A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 63557 chr6 39847153 39847153 C A rs150676991 DAAM2 Nonsynonymous SNV P582H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 22.8 63558 chr19 21240722 21240722 T C rs61744905 ZNF430 Synonymous SNV T535T 0.01 0.018 0.01 13 12 7 0.033 3 0 0 0 1 4.195 63559 chr19 21476155 21476155 C G ZNF708 Nonsynonymous SNV G474A 0.003 0 0 6 3 0 0.015 0 0 0 0 0 25.5 63560 chr7 48407424 48407424 G A ABCA13 Synonymous SNV L3574L 0 0.008 0 0 0 3 0 0 0 0 0 0 10.27 63561 chr7 103197603 103197603 G A rs41275239 RELN Nonsynonymous SNV T1873I 0.011 0.013 0.01 5 13 5 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 63562 chr7 48411861 48411861 A C ABCA13 Nonsynonymous SNV I3634L 0 0.008 0 0 0 3 0 0 0 0 0 0 1.076 63563 chr19 36530228 36530228 G C rs552791190 THAP8 Synonymous SNV R180R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.151 63564 chr7 103244816 103244816 G A rs41276148 RELN Synonymous SNV G1041G 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 3.615 63565 chr7 104753264 104753264 C T rs149720943 KMT2E Synonymous SNV A1687A 0.009 0.016 0.017 7 11 6 0.018 5 0 0 0 0 11.58 63566 chr6 8422724 8422724 G A rs138267484 SLC35B3 Synonymous SNV L153L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.2 63567 chr7 48450212 48450212 G A rs141118156 ABCA13 Nonsynonymous SNV G4056S 0 0.008 0 0 0 3 0 0 0 0 0 0 26.5 63568 chr7 150644489 150644489 G C KCNH2 Nonsynonymous SNV L687V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.839 63569 chr7 21907523 21907523 A G DNAH11 Nonsynonymous SNV R3913G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.36 63570 chr6 41755481 41755481 G A rs183107025 TOMM6 Nonsynonymous SNV E16K 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 25 63571 chr19 23926483 23926483 A G rs142653731 ZNF681 Synonymous SNV C623C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.122 63572 chr7 107572737 107572737 C T rs752713744 LAMB1 Nonsynonymous SNV C1425Y 0.002 0 0 0 2 0 0 0 0 0 0 0 34 63573 chr7 150730809 150730809 G T rs554774186 ABCB8 Nonsynonymous SNV W71C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.3 63574 chr7 23235483 23235483 A G rs1728327 NUP42 Synonymous SNV E157E 0.045 0.049 0.048 15 53 19 0.038 14 2 0 0 0 6.708 63575 chr7 23239133 23239133 C T rs858238 NUP42 Synonymous SNV S219S 0.045 0.049 0.048 15 53 19 0.038 14 2 0 0 0 11.82 63576 chr7 23296572 23296572 C T rs199354 GPNMB Synonymous SNV D143D 0.039 0.042 0.024 9 46 16 0.023 7 3 0 0 0 10.59 63577 chr7 23340618 23340618 C T rs156404 MALSU1 Synonymous SNV A139A 0.033 0.036 0.024 9 39 14 0.023 7 2 0 0 0 12.96 63578 chr7 23390952 23390952 G T rs274055 IGF2BP3 Synonymous SNV R219R 0.033 0.036 0.02 9 39 14 0.023 6 2 0 0 0 11.76 63579 chr19 5593958 5593958 C A SAFB2 Nonsynonymous SNV E717D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 23.2 63580 chr7 150783900 150783900 - G rs539642617 AGAP3 Frameshift insertion A25Gfs*105 0.014 0.005 0.041 12 16 2 0.031 12 8 1 6 6 63581 chr7 150783903 150783903 T G rs555651682 AGAP3 Synonymous SNV A25A 0.049 0.036 0.088 30 58 14 0.077 26 29 7 13 15 0.275 63582 chr7 23871861 23871861 C G rs138652787 STK31 Stop gain S956X 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 36 63583 chr19 30101494 30101494 A C rs201177789 POP4 Nonsynonymous SNV Q80P 0.001 0 0 6 1 0 0.015 0 0 0 0 0 25.3 63584 chr7 150783906 150783906 C G rs572361798 AGAP3 Synonymous SNV A26A 0.082 0.078 0.095 48 96 30 0.123 28 48 15 14 24 7.97 63585 chr7 150783908 150783908 - G rs552859803 AGAP3 Frameshift insertion Q28Afs*102 0.101 0.099 0.109 58 118 38 0.149 32 59 19 16 29 63586 chr6 90368573 90368573 C T rs199716281 MDN1 Nonsynonymous SNV G4926E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.136 63587 chr17 39521142 39521142 C T rs34771886 KRT33B Nonsynonymous SNV R329H 0.022 0.016 0.02 10 26 6 0.026 6 0 0 0 1 34 63588 chr7 150864494 150864494 T G rs971015580 GBX1 Nonsynonymous SNV M48L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.5 63589 chr19 6415251 6415251 G A rs374452832 KHSRP Synonymous SNV A676A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.538 63590 chr19 6415711 6415711 G A rs62107578 KHSRP Synonymous SNV A574A 0.036 0.055 0.034 8 42 21 0.021 10 2 0 0 0 11.5 63591 chr6 90455226 90455226 C G rs764187999 MDN1 Nonsynonymous SNV V1342L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.13 63592 chr6 42977092 42977092 T C rs114970216 PPP2R5D Synonymous SNV N322N 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Benign 3.927 63593 chr19 45900054 45900054 - CGAGGGAGCTGCCTGCGCCAT PPP1R13L L153_G154insDGAGSSL 0.002 0 0 0 2 0 0 0 0 0 0 0 63594 chr6 90642433 90642433 C T rs147908828 BACH2 Synonymous SNV T740T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.27 63595 chr19 37643935 37643935 C T rs368991030 ZNF585A Nonsynonymous SNV R289Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 5.723 63596 chr19 6744633 6744633 C T rs372480513 TRIP10 Synonymous SNV A237A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 13.03 63597 chr7 550467 550467 G A rs149090369 PDGFA Synonymous SNV R144R 0.004 0.01 0 0 5 4 0 0 1 0 0 0 7.069 63598 chr7 2611241 2611241 G A rs61736920 IQCE Nonsynonymous SNV R6Q 0.009 0.008 0.014 1 10 3 0.003 4 0 0 0 0 not provided 22.6 63599 chr19 46257954 46257954 C T rs117739601 BHMG1 Synonymous SNV A258A 0.02 0.01 0.003 2 23 4 0.005 1 0 0 0 0 13.77 63600 chr7 155755802 155755802 C T LOC389602 Synonymous SNV I93I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.51 63601 chr19 34832676 34832676 A G rs34493050 KIAA0355 Nonsynonymous SNV T613A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 3.379 63602 chr7 117171122 117171122 T C rs35516286 CFTR Nonsynonymous SNV I148T 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.85 63603 chr19 7125518 7125518 C T rs1799816 INSR Nonsynonymous SNV V1000M 0.018 0.008 0.007 4 21 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 63604 chr7 27239193 27239193 C T rs34185333 HOXA13 Synonymous SNV A168A 0.017 0.01 0.003 8 20 4 0.021 1 0 0 0 0 18.37 63605 chr7 27239201 27239201 G T rs34398255 HOXA13 Nonsynonymous SNV P166T 0.013 0.005 0.003 7 15 2 0.018 1 0 0 0 0 12.36 63606 chr19 35260442 35260442 C T rs117610843 ZNF599 Nonsynonymous SNV D13N 0.013 0.018 0.014 3 15 7 0.008 4 0 0 0 0 24.2 63607 chr7 27239550 27239550 C T rs35042646 HOXA13 Synonymous SNV A49A 0.012 0.005 0 7 14 2 0.018 0 0 0 0 0 18.11 63608 chr7 100033476 100033476 G A rs201890174 PPP1R35 Nonsynonymous SNV S149F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.7 63609 chr7 158727230 158727230 C A rs73167274 WDR60 Nonsynonymous SNV P732Q 0.014 0.01 0.01 3 17 4 0.008 3 0 0 0 0 Likely benign 32 63610 chr19 7585338 7585364 GCAGCTGCCGCGGCCGCTGCAGCTGCA - rs552712605 ZNF358 A408_A416del 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 63611 chr7 29552213 29552213 T C rs3750099 CHN2 Synonymous SNV N215N 0.017 0.013 0.017 11 20 5 0.028 5 0 0 0 0 0.262 63612 chr6 44336222 44336222 A T rs113812994 SPATS1 Synonymous SNV P227P 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.161 63613 chr7 100174925 100174925 G A rs779503954 LRCH4 Synonymous SNV S422S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.62 63614 chr19 47278938 47278938 G A rs1060043 SLC1A5 Synonymous SNV Y283Y 0.126 0.122 0.112 50 148 47 0.128 33 6 2 3 3 4.82 63615 chr17 40270030 40270068 CTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG - rs781885483 KAT2A A394_S395del 0.02 0.013 0.027 6 23 5 0.015 8 0 0 1 1 63616 chr19 38861362 38861362 T C rs2286550 CATSPERG Nonsynonymous SNV M1097T 0.022 0.018 0.058 9 26 7 0.023 17 0 0 0 0 0.001 63617 chr17 40282377 40282377 C T rs141821743 RAB5C Synonymous SNV E48E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 63618 chr19 38894102 38894102 G A rs3745961 FAM98C Nonsynonymous SNV A64T 0.018 0.016 0.044 7 21 6 0.018 13 0 0 0 0 19.4 63619 chr17 40632729 40632729 C T rs41283429 ATP6V0A1 Synonymous SNV G233G 0.043 0.049 0.061 14 51 19 0.036 18 0 1 0 2 21.5 63620 chr19 38896244 38896244 C A rs3745962 FAM98C Nonsynonymous SNV T214K 0.022 0.016 0.058 9 26 6 0.023 17 0 0 0 0 24.3 63621 chr19 38899501 38899501 - AAG rs142977446 FAM98C *268delinsK* 0.027 0.021 0.051 9 32 8 0.023 15 0 0 0 0 63622 chr7 31011602 31011602 C T rs147098353 GHRHR Synonymous SNV Y163Y 0.013 0.018 0.007 5 15 7 0.013 2 0 0 0 0 Uncertain significance 12.81 63623 chr17 40842762 40842762 C A rs1553469 CNTNAP1 Synonymous SNV R621R 0.055 0.083 0.092 20 64 32 0.051 27 0 3 2 3 21.3 63624 chr7 70255576 70255576 - CCA rs1057518870 AUTS2 H1109_P1110insH 0.02 0.026 0.024 10 24 10 0.026 7 0 0 0 1 63625 chr7 72861623 72861625 TCC - rs782106743 BAZ1B E1273del 0 0.003 0 0 0 1 0 0 0 0 0 0 63626 chr19 36002370 36002370 - CCACTGCTGCCG rs773012007 DMKN G291_N292insGSSG 0.007 0.016 0.003 3 8 6 0.008 1 0 0 0 0 63627 chr19 48519241 48519241 C G rs3745751 ELSPBP1 Nonsynonymous SNV C100W 0.07 0.055 0.109 35 82 21 0.09 32 2 1 3 0 25.4 63628 chr19 48542481 48542481 C T rs34362586 CABP5 Nonsynonymous SNV R111Q 0.011 0.01 0.007 0 13 4 0 2 0 0 0 0 34 63629 chr19 36124696 36124696 G A RBM42 Synonymous SNV A235A 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 7.52 63630 chr19 39994769 39994769 C - DLL3 R238Dfs*3 0.008 0.008 0 0 9 3 0 0 0 0 0 0 63631 chr7 75651253 75651253 C T rs61740075 STYXL1 Nonsynonymous SNV V75M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.4 63632 chr19 49206524 49206524 C T rs149356814 FUT2 Nonsynonymous SNV A104V 0.014 0.01 0.01 2 16 4 0.005 3 1 0 0 0 23.4 63633 chr19 36486509 36486509 C G rs76336581 SDHAF1 Synonymous SNV R111R 0.046 0.039 0.044 21 54 15 0.054 13 1 0 0 2 Benign/Likely benign 9.4 63634 chr6 51637536 51637536 G T rs142522748 PKHD1 Nonsynonymous SNV T2869K 0.014 0.013 0.01 9 17 5 0.023 3 0 0 0 0 Benign/Likely benign 29.6 63635 chr19 40419939 40419939 C T rs34254649 FCGBP Nonsynonymous SNV G1019R 0.009 0.013 0.007 1 10 5 0.003 2 0 0 0 0 29.1 63636 chr7 100550293 100550293 A G MUC3A Nonsynonymous SNV I292V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 63637 chr17 42852821 42852821 C T rs763720775 ADAM11 Synonymous SNV C260C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.67 63638 chr19 36594853 36594853 G A rs17851503 WDR62 Nonsynonymous SNV G1375S 0.074 0.06 0.065 32 87 23 0.082 19 1 0 0 2 Benign 0.02 63639 chr17 43011467 43011467 C A rs774463542 KIF18B Nonsynonymous SNV G296C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 63640 chr19 40900953 40900953 G A rs774667067 PRX Synonymous SNV V1102V 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Likely benign 0.025 63641 chr17 44060859 44060859 A G rs63750072 MAPT Nonsynonymous SNV Q230R 0.044 0.026 0.01 2 52 10 0.005 3 14 1 1 0 Benign 4.652 63642 chr19 8922721 8922721 C T rs141831046 ZNF558 Nonsynonymous SNV V78M 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 22.3 63643 chr19 41255489 41255489 C T rs756630513 C19orf54 Nonsynonymous SNV G74S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 63644 chr7 100550432 100550432 C T rs111924697 MUC3A Nonsynonymous SNV T338I 0.031 0.018 0.007 8 36 7 0.021 2 0 0 0 0 2.26 63645 chr17 4513974 4513974 - AAAG rs111699059 LINC01996 0 0 0.408 0 0 0 0 120 0 0 27 0 63646 chr19 41774140 41774140 A G rs114670612 HNRNPUL1 Nonsynonymous SNV N14S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 11.97 63647 chr7 134849457 134849457 C T rs572695038 TMEM140 Synonymous SNV Y88Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.559 63648 chr17 45895692 45895692 G A rs35767160 OSBPL7 Nonsynonymous SNV R181W 0.015 0.016 0.01 2 18 6 0.005 3 0 0 0 0 28.5 63649 chr7 87082273 87082273 T C rs58238559 ABCB4 Nonsynonymous SNV T175A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 24.4 63650 chr7 44606096 44606096 C T rs141049623 DDX56 Nonsynonymous SNV R466H 0.014 0.01 0 2 16 4 0.005 0 0 0 0 0 21.2 63651 chr7 44714125 44714125 G A rs775737016 OGDH Nonsynonymous SNV V302M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28 63652 chr7 44736134 44736134 G A rs200061061 OGDH Synonymous SNV V622V 0.014 0.01 0 2 16 4 0.005 0 0 0 0 0 Likely benign 13.25 63653 chr7 44799030 44799030 G A rs780157636 ZMIZ2 Nonsynonymous SNV V322M 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 11.22 63654 chr6 65300869 65300869 G A rs200935518 EYS Nonsynonymous SNV P1631S 0.015 0.008 0.003 3 18 3 0.008 1 1 0 0 0 Uncertain significance 20.1 63655 chr7 31018855 31018855 G A rs139763309 GHRHR Nonsynonymous SNV C423Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26 63656 chr19 50391459 50391459 A T rs368282616 MIR4750 0.009 0.005 0 0 11 2 0 0 0 0 0 0 0.122 63657 chr19 42753303 42753303 C T ERF Nonsynonymous SNV V246I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.3 63658 chr7 45124708 45124708 C T rs13438759 NACAD Synonymous SNV T357T 0.042 0.044 0.051 17 49 17 0.044 15 1 1 0 0 10.36 63659 chr19 44099390 44099390 G A rs754190954 IRGQ Nonsynonymous SNV T34M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.26 63660 chr7 91794432 91794432 C T rs186877597 LRRD1 Nonsynonymous SNV E29K 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 16.72 63661 chr7 141137475 141137475 C T rs112679326 TMEM178B Synonymous SNV I188I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 19.59 63662 chr19 39006775 39006775 G C rs373611044 RYR1 Nonsynonymous SNV M3201I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 21.6 63663 chr17 48248906 48248906 C G rs1046329 HILS1 0 0 0.177 0 0 0 0 52 0 0 4 0 6.259 63664 chr7 92098717 92098717 C T rs757474712 ERVW-1 Nonsynonymous SNV A327T 0.02 0.021 0.007 2 24 8 0.005 2 0 0 0 0 23.2 63665 chr7 92098721 92098721 T G rs779021269 ERVW-1 Synonymous SNV I325I 0.017 0.021 0.007 1 20 8 0.003 2 0 0 0 0 0.63 63666 chr19 39087026 39087026 C T rs201235545 MAP4K1 Nonsynonymous SNV R681Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 22.9 63667 chr19 9019306 9019306 T A rs796820920 MUC16 Synonymous SNV S12527S 0.035 0.023 0.003 11 41 9 0.028 1 0 0 0 0 5.232 63668 chr19 9019320 9019320 C G rs796881038 MUC16 Nonsynonymous SNV D12523H 0.04 0.034 0.003 16 47 13 0.041 1 0 0 0 0 10.67 63669 chr19 39306937 39306937 T A rs762862638 ECH1 Nonsynonymous SNV S240C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 1.967 63670 chr7 92098932 92098932 A G ERVW-1 Nonsynonymous SNV V255A 0.014 0.013 0.007 5 16 5 0.013 2 0 0 0 0 5.852 63671 chr6 72975689 72975689 C T RIMS1 Nonsynonymous SNV A500V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 63672 chr6 74019338 74019338 G A rs16883571 KHDC1 Stop gain Q34X 0.066 0.065 0.068 29 78 25 0.074 20 1 2 1 1 32 63673 chr7 42004062 42004062 G A rs35364414 GLI3 Nonsynonymous SNV R1537C 0.053 0.052 0.031 14 62 20 0.036 9 2 0 0 0 Benign 34 63674 chr7 42004600 42004600 G A rs34089404 GLI3 Synonymous SNV Y1357Y 0.073 0.073 0.061 16 86 28 0.041 18 2 0 2 0 Benign 0.313 63675 chr7 42004651 42004651 G A rs35139358 GLI3 Synonymous SNV P1340P 0.053 0.052 0.031 14 62 20 0.036 9 2 0 0 0 Benign 5.753 63676 chr7 931987 931987 C T rs755934178 GET4 Synonymous SNV I226I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 63677 chr7 42004664 42004664 C T rs35280470 GLI3 Nonsynonymous SNV G1336E 0.053 0.052 0.031 14 62 20 0.036 9 2 0 0 0 Benign 13.9 63678 chr7 42005845 42005845 C G rs34245321 GLI3 Synonymous SNV P942P 0.054 0.052 0.031 15 63 20 0.038 9 2 0 0 0 Benign 13.1 63679 chr7 94054488 94054488 T C COL1A2 Synonymous SNV A911A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.162 63680 chr7 42018336 42018336 G A rs34020684 GLI3 Synonymous SNV N503N 0.054 0.052 0.031 15 63 20 0.038 9 2 0 0 0 Benign 10.19 63681 chr7 943832 943832 G A rs191140366 ADAP1 Synonymous SNV H98H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.26 63682 chr19 39976232 39976232 A T rs143636898 TIMM50 Nonsynonymous SNV D121V 0.005 0.005 0 9 6 2 0.023 0 0 0 0 0 21.4 63683 chr7 143018525 143018525 C G rs149729531 CLCN1 Nonsynonymous SNV F167L 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.26 63684 chr17 4873042 4873042 T A rs778034655 MIR6864 0 0 0.003 0 0 0 0 1 0 0 0 0 5.487 63685 chr7 4874729 4874729 C G rs144507770 RADIL Nonsynonymous SNV G309R 0.032 0.018 0.024 10 38 7 0.026 7 1 0 0 1 0.202 63686 chr7 4876064 4876064 G A rs150209652 RADIL Synonymous SNV P236P 0.032 0.018 0.024 10 37 7 0.026 7 1 0 0 1 5.825 63687 chr7 4876100 4876100 G A rs138811640 RADIL Synonymous SNV N224N 0.032 0.018 0.024 10 38 7 0.026 7 1 0 0 1 4.821 63688 chr7 96639323 96639323 A G rs373065383 DLX6 Synonymous SNV P282P 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 6.354 63689 chr17 51900886 51900886 G A rs139063282 KIF2B Synonymous SNV R164R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 6.963 63690 chr17 5271763 5271763 G C rs61735455 RABEP1 Nonsynonymous SNV M585I 0.037 0.039 0.034 13 44 15 0.033 10 0 1 0 0 22.6 63691 chr7 98951655 98951655 C T rs73710441 ARPC1A Synonymous SNV H194H 0 0.008 0 0 0 3 0 0 0 0 0 0 14.65 63692 chr7 99017737 99017737 G A rs114658645 ATP5MF-PTCD1, PTCD1 Synonymous SNV D652D 0.033 0.031 0.027 16 39 12 0.041 8 1 0 0 0 9.649 63693 chr7 100686777 100686777 C T rs138142210 MUC17 Nonsynonymous SNV T4027M 0.032 0.044 0.024 14 38 17 0.036 7 0 0 1 0 14.17 63694 chr7 99022852 99022852 G C rs113135408 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV P435A 0 0.008 0 0 0 3 0 0 0 0 0 0 0.064 63695 chr19 40541039 40541039 C T rs61737024 ZNF780B Nonsynonymous SNV R576Q 0.03 0.029 0.01 15 35 11 0.038 3 0 0 0 0 11.93 63696 chr7 43982792 43982792 A G rs41279603 POLR2J4 0.013 0.023 0.014 4 15 9 0.01 4 0 0 1 0 5.767 63697 chr7 99032517 99032517 G A rs34943973 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R117W 0.033 0.031 0.027 16 39 12 0.041 8 1 0 0 0 23.3 63698 chr7 144075886 144075886 C T rs62485531 ARHGEF5 Synonymous SNV Y1521Y 0.008 0.003 0.014 3 9 1 0.008 4 0 0 0 0 5.091 63699 chr7 99050039 99050039 G A rs17854665 CPSF4 Nonsynonymous SNV R151H 0.033 0.031 0.034 16 39 12 0.041 10 1 0 1 0 14.34 63700 chr7 99091599 99091599 C T rs78336331 ZNF394 Synonymous SNV P413P 0.013 0.01 0.007 4 15 4 0.01 2 0 0 0 0 10.87 63701 chr7 102106462 102106462 C T rs140741148 LRWD1 Synonymous SNV L93L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 12.67 63702 chr6 84233985 84233985 T C rs146852080 PRSS35 Synonymous SNV Y275Y 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 0.283 63703 chr7 44154492 44154492 C T rs3087368 POLD2 Synonymous SNV T434T 0.024 0.034 0.031 7 28 13 0.018 9 0 0 0 0 16.13 63704 chr7 99654719 99654719 G C rs767526646 ZSCAN21 Nonsynonymous SNV E30D 0 0.005 0 0 0 2 0 0 0 0 0 0 8.512 63705 chr17 56429523 56429523 A G rs143298862 TSPOAP1-AS1 0.005 0.01 0.014 3 6 4 0.008 4 0 0 0 0 8.07 63706 chr7 149488591 149488591 G T rs150628355 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.636 63707 chr7 55259450 55259450 C T rs2229066 EGFR Synonymous SNV R569R 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 Benign 18.3 63708 chr19 45296767 45296767 G A rs35457630 CBLC Nonsynonymous SNV E346K 0.007 0 0.027 1 8 0 0.003 8 0 0 1 0 14.35 63709 chr19 41235167 41235167 G A rs112628847 ITPKC Nonsynonymous SNV R439H 0.037 0.044 0.037 12 44 17 0.031 11 2 0 0 0 22.4 63710 chr8 100789120 100789120 C T rs748588048 VPS13B Synonymous SNV C2480C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 63711 chr7 106685530 106685530 G C PRKAR2B Nonsynonymous SNV D60H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 63712 chr17 56599408 56599408 G A rs148226154 SEPTIN4 Synonymous SNV D140D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.657 63713 chr17 56604185 56604185 T C rs202073845 SEPTIN4 Nonsynonymous SNV Y64C 0.005 0 0.003 0 6 0 0 1 0 0 0 0 0.305 63714 chr7 55902230 55902230 T C rs146004414 SEPTIN14 Nonsynonymous SNV D203G 0.038 0.023 0.02 9 45 9 0.023 6 0 0 1 0 28.2 63715 chr8 101271373 101271373 C T rs563127836 RNF19A Nonsynonymous SNV R643Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 63716 chr19 52729030 52729030 C T rs10413435 PPP2R1A Synonymous SNV D395D 0.085 0.073 0.092 25 100 28 0.064 27 3 2 1 1 15.9 63717 chr7 45125445 45125445 G C rs781059449 NACAD Nonsynonymous SNV P112A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16.75 63718 chr17 58151241 58151241 C T rs757665724 HEATR6 Nonsynonymous SNV V112I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.76 63719 chr7 45614376 45614376 C G rs74641956 ADCY1 Synonymous SNV A78A 0.017 0.023 0.007 18 20 9 0.046 2 1 0 0 1 9.107 63720 chr19 52919199 52919199 G A rs142156816 ZNF528 Nonsynonymous SNV R365H 0.026 0.029 0.01 8 31 11 0.021 3 2 0 0 0 9.48 63721 chr19 9086184 9086184 G A rs74999347 MUC16 Synonymous SNV N1877N 0.04 0.036 0.031 16 47 14 0.041 9 1 2 0 0 3.212 63722 chr19 46259293 46259293 G A rs77185077 BHMG1 Nonsynonymous SNV V290M 0.043 0.039 0.037 13 51 15 0.033 11 0 0 0 1 14.76 63723 chr17 60766320 60766320 G A rs144406119 MRC2 Synonymous SNV T1111T 0.012 0.016 0.027 6 14 6 0.015 8 0 0 1 0 8.99 63724 chr17 61560006 61560006 A G rs763905584 ACE Nonsynonymous SNV H433R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 63725 chr7 11500372 11500372 C T rs118134876 THSD7A Nonsynonymous SNV R841H 0.072 0.076 0.044 28 85 29 0.072 13 2 1 0 0 32 63726 chr19 42703740 42703740 G A rs145639797 DEDD2 Synonymous SNV G277G 0.013 0.01 0 8 15 4 0.021 0 0 0 0 0 15.04 63727 chr8 10464604 10464604 T C rs117007660 RP1L1 Nonsynonymous SNV H2335R 0.049 0.031 0.054 9 57 12 0.023 16 1 0 0 0 Benign 0.005 63728 chr7 6660922 6660922 G A rs376257434 ZNF853 Synonymous SNV P85P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.027 63729 chr19 44130287 44130287 A G CADM4 Nonsynonymous SNV L218P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 27.2 63730 chr7 117267592 117267592 G T rs1800120 CFTR Nonsynonymous SNV R1162L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 63731 chr7 100403131 100403131 C A rs35638378 EPHB4 Nonsynonymous SNV E890D 0.02 0.016 0 9 24 6 0.023 0 1 0 0 0 Benign 14.98 63732 chr8 10466464 10466464 G A rs370477638 RP1L1 Nonsynonymous SNV T1715M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.369 63733 chr17 63681 63681 C T rs765228020 RPH3AL Nonsynonymous SNV D275N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 63734 chr7 72987191 72987191 A T TBL2 Synonymous SNV A71A 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 0.151 63735 chr7 72987681 72987681 C T rs141209031 TBL2 Synonymous SNV A24A 0.009 0.008 0.01 9 11 3 0.023 3 0 0 0 0 Benign 19.48 63736 chr19 47259134 47259134 C A rs148206382 FKRP Nonsynonymous SNV R143S 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Benign/Likely benign 11.04 63737 chr17 64049870 64049870 G A rs147020220 CEP112 Nonsynonymous SNV A359V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 63738 chr19 10225071 10225071 A G rs75945356 P2RY11, PPAN-P2RY11 Nonsynonymous SNV Y261C 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Likely benign 25 63739 chr19 47575144 47575144 G A rs116366877 ZC3H4 Synonymous SNV S679S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 8.694 63740 chr8 10480225 10480225 G C rs187140236 RP1L1 Nonsynonymous SNV R163G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.122 63741 chr7 50611688 50611688 G A rs11575290 DDC Synonymous SNV D32D 0.009 0.008 0.01 3 10 3 0.008 3 0 0 0 0 Benign/Likely benign 10.41 63742 chr17 648916 648916 T C rs12942598 GEMIN4 Synonymous SNV T789T 0.054 0.081 0.034 23 63 31 0.059 10 1 2 0 1 0.11 63743 chr7 122338852 122338852 A G rs769542252 RNF133 Nonsynonymous SNV Y41H 0.003 0 0 0 4 0 0 0 0 0 0 0 18.75 63744 chr7 151874581 151874581 G C rs149373512 KMT2C Nonsynonymous SNV L2653V 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 Benign 0.001 63745 chr7 151875047 151875047 G A rs117187677 KMT2C Synonymous SNV R2497R 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 Benign 6.789 63746 chr17 649698 649698 T A rs35172207 GEMIN4 Nonsynonymous SNV T529S 0.011 0.013 0.007 0 13 5 0 2 0 0 0 0 Likely benign 5.27 63747 chr7 73480029 73480029 C T rs142316834 ELN Nonsynonymous SNV P586S 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.488 63748 chr17 65014360 65014360 C T rs34743848 CACNG4 Synonymous SNV Y92Y 0.027 0.016 0.024 9 32 6 0.023 7 0 0 0 0 11.16 63749 chr19 10445805 10445805 T C rs143084546 ICAM3 Nonsynonymous SNV I31V 0.009 0.01 0.027 2 10 4 0.005 8 0 0 0 0 0.107 63750 chr7 7421223 7421223 G A rs202213416 COL28A1 Synonymous SNV G719G 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 12.22 63751 chr19 10527645 10527645 C G rs117320342 PDE4A Synonymous SNV S9S 0.061 0.07 0.061 30 72 27 0.077 18 3 1 0 2 7.511 63752 chr19 53854948 53854948 A C rs73935563 ZNF845 Synonymous SNV S340S 0.035 0.06 0.024 16 41 23 0.041 7 0 0 0 0 2.74 63753 chr7 75612904 75612904 C T rs180683888 POR Synonymous SNV T299T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.68 63754 chr19 53856409 53856409 A G rs145598405 ZNF845 Synonymous SNV G827G 0.03 0.049 0.02 13 35 19 0.033 6 0 0 0 0 3.522 63755 chr17 65907914 65907914 A G rs79076582 BPTF Nonsynonymous SNV D1305G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 17.06 63756 chr17 66391232 66391232 A G rs7342975 ARSG Synonymous SNV P354P 0.026 0.029 0.034 4 30 11 0.01 10 1 0 1 0 0.846 63757 chr8 110478964 110478964 G A rs370858555 PKHD1L1 Synonymous SNV L2857L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.142 63758 chr19 10798066 10798066 G A rs200928937 ILF3 Nonsynonymous SNV G702S 0.009 0.023 0.01 1 11 9 0.003 3 0 0 0 0 22 63759 chr8 110592108 110592108 G A rs10085994 SYBU Synonymous SNV I88I 0.034 0.034 0.01 15 40 13 0.038 3 2 0 0 0 10.51 63760 chr17 66596769 66596769 C T rs2907388 FAM20A Synonymous SNV L13L 0.009 0.01 0.027 16 11 4 0.041 8 0 0 0 0 Benign 10.31 63761 chr17 66872807 66872807 A C rs150780497 ABCA8 Nonsynonymous SNV S1373A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 63762 chr7 127233977 127233977 G T rs3779536 FSCN3 Nonsynonymous SNV A24S 0.014 0.008 0.017 6 16 3 0.015 5 0 0 0 0 23.7 63763 chr8 113702131 113702131 A G rs16883953 CSMD3 Synonymous SNV N577N 0.025 0.018 0.041 14 29 7 0.036 12 0 0 1 1 2.903 63764 chr19 11326101 11326101 G A rs370567682 DOCK6 Synonymous SNV S1356S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 14.02 63765 chr7 128037043 128037043 C T rs72624961 IMPDH1 Nonsynonymous SNV A260T 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 63766 chr19 48968015 48968015 C T rs73050908 KCNJ14 Nonsynonymous SNV A431V 0.021 0.026 0.014 11 25 10 0.028 4 0 0 0 1 22.9 63767 chr19 11447886 11447886 C T rs3969860 RAB3D Nonsynonymous SNV V64I 0.019 0.018 0.02 9 22 7 0.023 6 0 1 0 0 13.91 63768 chr19 11488976 11488976 G C rs974933030 EPOR Nonsynonymous SNV S404C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.5 63769 chr19 11558343 11558343 - GAG PRKCSH E325_A326insE 0.013 0.008 0 3 15 3 0.008 0 0 0 0 0 63770 chr19 11565392 11565392 G C ELAVL3 Synonymous SNV G351G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.436 63771 chr19 49228059 49228059 C T rs34354498 RASIP1 Synonymous SNV E762E 0.032 0.042 0.031 11 37 16 0.028 9 0 1 0 0 12.6 63772 chr19 49230379 49230379 A G rs640794 RASIP1 Synonymous SNV P636P 0.025 0.01 0.031 6 29 4 0.015 9 1 0 0 0 7.492 63773 chr8 120608222 120608222 A G rs61753745 ENPP2 Synonymous SNV P331P 0.013 0.01 0.007 2 15 4 0.005 2 0 0 0 0 Benign 0.069 63774 chr7 82785304 82785304 G A rs61738783 PCLO Nonsynonymous SNV P218L 0.018 0.013 0.007 15 21 5 0.038 2 0 0 0 0 Benign 6.957 63775 chr7 20823947 20823947 G A SP8 Stop gain Q497X 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 41 63776 chr7 128845210 128845210 C T rs142599757 SMO Nonsynonymous SNV A235V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 63777 chr19 45543560 45543560 T C rs746486921 CLASRP Synonymous SNV Y30Y 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 1.074 63778 chr7 129668746 129668746 G A rs34752500 ZC3HC1 Nonsynonymous SNV T206I 0.02 0.016 0.017 7 24 6 0.018 5 0 0 0 0 10.34 63779 chr19 45818825 45818825 G C rs17875653 CKM Nonsynonymous SNV L127V 0.007 0.01 0.014 11 8 4 0.028 4 0 0 0 0 Uncertain significance 6.388 63780 chr8 124219863 124219863 C A rs199759565 FAM83A Nonsynonymous SNV L414M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.37 63781 chr17 71746479 71746479 C G rs2683163 LINC00469 0 0 0.568 0 0 0 0 167 0 0 49 0 5.049 63782 chr17 71746508 71746508 T C rs2683162 LINC00469 0 0 0.568 0 0 0 0 167 0 0 49 0 8.46 63783 chr7 88965873 88965873 T C rs147794726 ZNF804B Nonsynonymous SNV S1193P 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 0.194 63784 chr17 71746560 71746560 G A rs4416068 LINC00469 0 0 0.051 0 0 0 0 15 0 0 0 0 2.539 63785 chr17 7219567 7219567 G T rs771652550 NEURL4 Nonsynonymous SNV P1520T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 63786 chr19 46124517 46124517 C T rs3816045 EML2 Nonsynonymous SNV R241H 0.015 0.008 0.003 2 18 3 0.005 1 0 0 0 0 33 63787 chr19 49671919 49671919 G T TRPM4 Nonsynonymous SNV G126V 0.009 0.016 0 0 10 6 0 0 0 1 0 0 23.9 63788 chr19 14736316 14736316 T C rs61729083 ADGRE3 Synonymous SNV S510S 0.052 0.052 0.027 21 61 20 0.054 8 2 1 1 0 5.77 63789 chr17 72613302 72613302 A T CD300E Nonsynonymous SNV W115R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 63790 chr7 73932494 73932494 G T rs145535993 GTF2IRD1 Synonymous SNV V181V 0.011 0.013 0.014 5 13 5 0.013 4 0 0 0 0 10.27 63791 chr17 72929560 72929560 G A rs34788249 OTOP2 Nonsynonymous SNV V537I 0.015 0.023 0.014 2 18 9 0.005 4 0 2 0 0 28.7 63792 chr19 50393270 50393270 A G IL4I1 Nonsynonymous SNV F454S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 63793 chr8 132051970 132051970 C A rs75246765 ADCY8 Nonsynonymous SNV A204S 0.006 0.003 0.014 2 7 1 0.005 4 0 0 0 0 23.4 63794 chr19 55899503 55899503 G T rs199739944 RPL28 Nonsynonymous SNV W137C 0.004 0 0 0 5 0 0 0 0 0 0 0 0.476 63795 chr19 15198666 15198666 T A rs144766527 OR1I1 Nonsynonymous SNV S264T 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 2.953 63796 chr19 47653467 47653467 A G rs141328358 SAE1 Synonymous SNV P73P 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 0.852 63797 chr17 73494390 73494390 C T rs374927720 TMEM94 Synonymous SNV S1218S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 17.58 63798 chr7 98461021 98461021 G A TMEM130 Synonymous SNV L30L 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 11.79 63799 chr7 98508227 98508227 T C rs34648627 TRRAP Synonymous SNV Y603Y 0.01 0.008 0.017 9 12 3 0.023 5 0 0 0 0 Benign 0.326 63800 chr7 98992084 98992084 C T rs144187782 ARPC1B Nonsynonymous SNV S364L 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 27.2 63801 chr7 99128918 99128918 A G rs61735344 ZKSCAN5 Synonymous SNV L449L 0.02 0.008 0.031 8 24 3 0.021 9 0 0 0 1 0.014 63802 chr7 82387960 82387960 G A rs62465931 PCLO Synonymous SNV D5120D 0.026 0.023 0.024 8 30 9 0.021 7 0 0 0 1 9.38 63803 chr19 48184167 48184167 C G rs1020527316 BICRA Synonymous SNV T580T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.01 63804 chr19 48197706 48197706 T A rs370979982 BICRA Nonsynonymous SNV L873Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 19.98 63805 chr8 135596206 135596206 C G rs760488147 ZFAT Nonsynonymous SNV R857P 0 0.003 0 0 0 1 0 0 0 0 0 0 35 63806 chr7 31124387 31124387 G A rs775319900 ADCYAP1R1 Synonymous SNV T137T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.16 63807 chr7 99996946 99996946 A C rs201639628 PILRA Nonsynonymous SNV E174A 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.3 63808 chr8 100779103 100779103 G A rs61753725 VPS13B Synonymous SNV P2409P 0.01 0.005 0.017 14 12 2 0.036 5 1 0 0 0 Benign/Likely benign 12.25 63809 chr17 74015655 74015655 G A rs767660869 EVPL Nonsynonymous SNV P364L 0 0 0.003 3 0 0 0.008 1 0 0 0 0 1.601 63810 chr7 87229457 87229459 TTC - rs781599319 ABCB1 K14del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 63811 chr7 878592 878592 A G rs199999269 SUN1 Nonsynonymous SNV S79G 0.005 0.01 0 0 6 4 0 0 0 0 0 0 Likely benign 7.986 63812 chr17 74274071 74274071 G A rs143270448 QRICH2 Nonsynonymous SNV R1540W 0.001 0.005 0.007 5 1 2 0.013 2 0 0 0 0 32 63813 chr19 16861141 16861141 C T rs141300843 NWD1 Nonsynonymous SNV T357M 0.02 0.026 0.007 11 24 10 0.028 2 1 1 0 0 2.03 63814 chr19 48698455 48698455 G A rs758903126 ZSWIM9 Synonymous SNV E378E 0 0.003 0 4 0 1 0.01 0 0 0 0 0 9.034 63815 chr8 141285852 141285852 T C rs758181432 TRAPPC9 Nonsynonymous SNV N719S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 63816 chr19 48863416 48863416 C T rs761556996 TMEM143 Synonymous SNV P94P 0 0.003 0 4 0 1 0.01 0 0 0 0 0 15.53 63817 chr7 37780091 37780091 G T rs73691196 GPR141 Synonymous SNV L32L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.504 63818 chr7 143027910 143027910 G A rs118066140 CLCN1 Nonsynonymous SNV R300Q 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 32 63819 chr7 38424482 38424482 C T rs34477056 AMPH Synonymous SNV Q633Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.5 63820 chr19 49216607 49216607 G A rs73057542 MAMSTR Nonsynonymous SNV P221S 0.012 0.013 0 8 14 5 0.021 0 0 0 0 0 18.19 63821 chr7 38431439 38431439 G A rs146370454 AMPH Synonymous SNV P554P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.373 63822 chr7 38502680 38502680 T C rs62001875 AMPH Synonymous SNV P261P 0.004 0 0 0 5 0 0 0 0 0 0 0 1.937 63823 chr19 57157140 57157140 C T rs61749984 SMIM17 Synonymous SNV P35P 0.021 0.013 0.003 6 25 5 0.015 1 0 0 0 0 11.84 63824 chr7 107353039 107353039 C T rs150597240 SLC26A4 Nonsynonymous SNV T764M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 9.902 63825 chr8 143556898 143556898 C G ADGRB1 Nonsynonymous SNV T283R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 63826 chr8 10468345 10468345 G A rs200477735 RP1L1 Nonsynonymous SNV A1088V 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Benign 8.679 63827 chr7 148823288 148823288 C G rs151128388 ZNF425 Synonymous SNV S6S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.67 63828 chr7 149473146 149473146 C T rs199876239 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 5.257 63829 chr19 57641799 57641799 G A rs3795003 USP29 Nonsynonymous SNV E586K 0.032 0.049 0.031 12 38 19 0.031 9 2 1 0 1 6.18 63830 chr8 143763531 143763531 G A rs138377917 PSCA Stop gain W109X 0.008 0.018 0.007 7 9 7 0.018 2 0 0 0 0 36 63831 chr7 149500327 149500327 G A rs374883423 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 10.48 63832 chr7 111512589 111512589 G A rs10257550 DOCK4 Synonymous SNV T592T 0.097 0.096 0.116 41 114 37 0.105 34 7 1 3 1 9.633 63833 chr19 57649901 57649901 G A rs17305556 ZIM3 Synonymous SNV P27P 0.023 0.029 0.024 9 27 11 0.023 7 2 0 0 0 8.148 63834 chr19 57649940 57649940 A T rs17305563 ZIM3 Synonymous SNV T14T 0.023 0.029 0.024 9 27 11 0.023 7 2 0 0 0 0.003 63835 chr19 57802911 57802911 G A rs36032958 ZNF460 Synonymous SNV R293R 0.083 0.115 0.099 32 97 44 0.082 29 3 1 3 1 14.38 63836 chr7 117149125 117149125 A G rs397508332 CFTR Nonsynonymous SNV K68E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.8 63837 chr7 117182116 117182116 C T rs143860237 CFTR Nonsynonymous SNV T388M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 63838 chr8 114290825 114290825 G A rs17608189 CSMD3 Synonymous SNV Y170Y 0.041 0.049 0.041 20 48 19 0.051 12 0 1 0 0 0.018 63839 chr19 17749893 17749893 G A rs200328448 UNC13A Nonsynonymous SNV P1027L 0.012 0.008 0.014 0 14 3 0 4 0 0 0 0 24.6 63840 chr7 99032458 99032458 C T rs940336 ATP5MF-PTCD1, PTCD1 Synonymous SNV P136P 0.04 0.042 0.024 14 47 16 0.036 7 0 0 0 0 18.17 63841 chr17 76571044 76571044 G A rs61744326 DNAH17 Synonymous SNV G32G 0.016 0.01 0.02 15 19 4 0.038 6 0 0 0 0 7.834 63842 chr7 117865028 117865028 G A rs10487391 ANKRD7 Synonymous SNV K48K 0.021 0.008 0.003 13 25 3 0.033 1 0 0 0 0 5.502 63843 chr7 99159522 99159522 C G rs141089610 ZNF655 Nonsynonymous SNV P50A 0.027 0.031 0.024 8 32 12 0.021 7 0 0 0 0 13.9 63844 chr17 7749954 7749954 C G rs60738318 KDM6B Nonsynonymous SNV P203A 0.026 0.029 0.044 8 31 11 0.021 13 0 0 0 0 22.1 63845 chr19 17946010 17946010 C T rs138645044 JAK3 Synonymous SNV L643L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.44 63846 chr19 50093248 50093248 A T rs144521999 PRRG2 Nonsynonymous SNV T177S 0.025 0.008 0 7 29 3 0.018 0 8 1 0 2 22.3 63847 chr17 7750936 7750936 A G rs73233606 KDM6B Nonsynonymous SNV S444G 0.026 0.029 0.037 8 31 11 0.021 11 0 0 0 0 1.341 63848 chr17 7751778 7751778 G A rs3744249 KDM6B Synonymous SNV P724P 0.076 0.076 0.092 20 89 29 0.051 27 2 0 2 0 0.72 63849 chr17 7760397 7760397 G A rs4724 NAA38 Synonymous SNV F115F 0.072 0.06 0.092 21 84 23 0.054 27 2 0 2 0 11.19 63850 chr17 7761512 7761512 C A rs12453250 CYB5D1 Nonsynonymous SNV F20L 0.072 0.063 0.092 21 84 24 0.054 27 2 0 2 0 24.1 63851 chr7 47408718 47408718 G A rs139781998 TNS3 Nonsynonymous SNV P509S 0.011 0.008 0.01 4 13 3 0.01 3 0 0 0 0 Likely benign 9.143 63852 chr19 58084588 58084588 G C rs145794172 ZNF416 Nonsynonymous SNV H156Q 0.02 0.023 0.01 6 24 9 0.015 3 0 0 0 0 0.001 63853 chr17 77984254 77984254 C T rs147667815 TBC1D16 Nonsynonymous SNV E162K 0.006 0.005 0.017 1 7 2 0.003 5 0 0 0 0 12.22 63854 chr7 99797878 99797878 G A STAG3 Nonsynonymous SNV R508H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.6 63855 chr17 78069129 78069129 G A rs61686936 CCDC40 Nonsynonymous SNV R967H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.64 63856 chr8 100831065 100831065 C T rs145890213 VPS13B Nonsynonymous SNV P2882L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 63857 chr19 50657969 50657969 G A rs200853476 IZUMO2 Nonsynonymous SNV R171C 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 27.7 63858 chr17 78087041 78087041 G A rs1800309 GAA Nonsynonymous SNV E689K 0.026 0.021 0.041 3 30 8 0.008 12 1 0 1 0 Benign/Likely benign, other 18.31 63859 chr19 50881054 50881054 G A rs55671147 NR1H2 Synonymous SNV E36E 0.009 0.021 0 8 10 8 0.021 0 0 0 0 0 10.57 63860 chr7 151668063 151668063 A G rs35868297 GALNTL5 Nonsynonymous SNV H94R 0.016 0.021 0.024 3 19 8 0.008 7 1 1 1 0 0.001 63861 chr19 53518747 53518747 G T rs1650925 ERVV-1 Synonymous SNV L468L 0.011 0.013 0 5 13 5 0.013 0 0 0 0 0 0.475 63862 chr8 144940222 144940222 A C rs6990098 EPPK1 Synonymous SNV L2400L 0.032 0.039 0.027 11 38 15 0.028 8 0 0 0 0 0.002 63863 chr8 144940230 144940230 G C rs7005697 EPPK1 Nonsynonymous SNV L2398V 0.017 0.023 0.027 7 20 9 0.018 8 0 0 0 0 0.001 63864 chr19 50985170 50985170 C T rs144996610 EMC10 Nonsynonymous SNV A244V 0.009 0.016 0.003 9 10 6 0.023 1 1 0 0 2 20.2 63865 chr8 144940267 144940267 G A rs28441354 EPPK1 Synonymous SNV G2385G 0.036 0.026 0.003 10 42 10 0.026 1 0 0 0 0 11.82 63866 chr8 144942413 144942413 T C rs201641573 EPPK1 Nonsynonymous SNV D1670G 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 0.2 63867 chr7 154684175 154684175 C T rs775703973 DPP6 Synonymous SNV D754D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 63868 chr19 58867732 58867732 G A rs553543399 ZNF497 Nonsynonymous SNV R424C 0.003 0 0 0 3 0 0 0 0 0 0 0 18.36 63869 chr19 19165024 19165024 G T ARMC6 Nonsynonymous SNV R281L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 33 63870 chr7 127991183 127991195 GAGTCCGCAGAAC - PRRT4 F806Rfs*81 0.003 0 0 1 3 0 0.003 0 0 0 0 0 63871 chr19 19744762 19744762 G A rs141571813 GMIP Synonymous SNV S745S 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 5.329 63872 chr19 19744763 19744763 C A rs141276910 GMIP Nonsynonymous SNV S745I 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 24.9 63873 chr8 144996111 144996111 C T rs34803322 PLEC Synonymous SNV L2612L 0.069 0.073 0.065 25 81 28 0.064 19 4 0 0 0 Benign 3.491 63874 chr8 145006992 145006992 C T rs3135103 PLEC Nonsynonymous SNV R555Q 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 Benign 26.3 63875 chr7 156556404 156556404 G A rs779445709 LMBR1 Nonsynonymous SNV A77V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 63876 chr8 104383896 104383896 G A rs533547163 CTHRC1 Synonymous SNV Q4Q 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 4.581 63877 chr7 128829066 128829066 A G rs41304185 SMO Nonsynonymous SNV D25G 0.016 0.013 0.017 7 19 5 0.018 5 0 0 1 1 Benign 9.877 63878 chr8 145111615 145111615 C A rs10107332 OPLAH Nonsynonymous SNV G584C 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 27 63879 chr7 128845223 128845223 C T rs111482521 SMO Synonymous SNV A239A 0.013 0.008 0.007 3 15 3 0.008 2 1 0 0 0 Benign 15.5 63880 chr8 145140008 145140008 C T rs76463479 GPAA1 Synonymous SNV A409A 0 0.008 0 1 0 3 0.003 0 0 0 0 0 10.69 63881 chr17 79073773 79073773 G A rs372635764 BAIAP2 Nonsynonymous SNV V179M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 63882 chr20 168625 168625 - T rs11396059 DEFB128 Frameshift insertion H62Tfs*5 0.04 0.029 0.037 16 47 11 0.041 11 0 0 0 1 63883 chr7 158534568 158534568 C T rs201371173 ESYT2 Nonsynonymous SNV R584Q 0.003 0 0 0 3 0 0 0 0 0 0 0 7.99 63884 chr19 21720232 21720232 C A rs200312692 ZNF429 Synonymous SNV G395G 0.009 0.005 0 0 10 2 0 0 0 0 0 0 14.32 63885 chr19 54756246 54756246 A G rs117421142 LILRB5 Nonsynonymous SNV I420T 0.031 0.026 0.031 16 36 10 0.041 9 0 0 0 0 0.001 63886 chr7 16642050 16642050 T C rs144175206 ANKMY2 Nonsynonymous SNV K366E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 63887 chr7 5521468 5521468 G A rs10951956 FBXL18 Synonymous SNV L599L 0.154 0.141 0.109 58 181 54 0.149 32 15 2 2 4 11 63888 chr7 17379653 17379653 T C rs763912356 AHR Nonsynonymous SNV L735S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 63889 chr17 79983379 79983379 C T rs72861735 LRRC45 Synonymous SNV A219A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.54 63890 chr19 55179128 55179128 A G rs2764337 LILRB4 Nonsynonymous SNV K392E 0.055 0.029 0.017 18 64 11 0.046 5 1 0 0 0 0.012 63891 chr7 5530954 5530954 G A rs11975313 FBXL18 Synonymous SNV F636F 0.158 0.151 0.129 65 185 58 0.167 38 14 3 3 4 7.752 63892 chr8 133851798 133851798 C T rs199702503 PHF20L1 Synonymous SNV H760H 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 13.28 63893 chr7 5540244 5540244 A C rs33941092 FBXL18 Nonsynonymous SNV N552K 0.026 0.039 0.01 4 31 15 0.01 3 0 0 0 1 12.13 63894 chr7 5541009 5541009 C A rs12667381 FBXL18 Synonymous SNV L297L 0.147 0.138 0.088 55 172 53 0.141 26 13 2 1 3 11.91 63895 chr7 20668424 20668424 T C rs201282210 ABCB5 Synonymous SNV D74D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.924 63896 chr7 20683170 20683170 T C rs150545949 ABCB5 Nonsynonymous SNV V198A 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 18.68 63897 chr8 120233910 120233910 C T rs34920533 MAL2 Synonymous SNV S72S 0.061 0.063 0.088 27 72 24 0.069 26 2 2 1 1 19.14 63898 chr8 1616675 1616675 C T rs7463888 DLGAP2 Nonsynonymous SNV T664M 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 22.5 63899 chr17 80356187 80356187 G A rs4789767 OGFOD3 Synonymous SNV Y236Y 0.014 0.021 0.024 12 17 8 0.031 7 0 0 1 0 10.03 63900 chr17 80401946 80401946 A G rs2306758 CYBC1 Synonymous SNV L152L 0.089 0.099 0.102 34 104 38 0.087 30 4 1 0 1 0.037 63901 chr8 16859298 16859298 C T FGF20 Nonsynonymous SNV D82N 0.052 0.063 0 20 61 24 0.051 0 0 0 0 0 20.2 63902 chr8 16859302 16859302 C G FGF20 Synonymous SNV L80L 0.054 0.063 0 19 63 24 0.049 0 0 0 0 0 15.9 63903 chr8 16859304 16859304 G A FGF20 Synonymous SNV L80L 0.054 0.063 0 19 63 24 0.049 0 0 0 0 0 14.59 63904 chr8 136657324 136657324 G A rs150184893 KHDRBS3 Nonsynonymous SNV G305R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 63905 chr19 33311992 33311992 C T rs10408300 TDRD12 Nonsynonymous SNV T1146M 0.052 0.057 0.041 19 61 22 0.049 12 3 0 0 0 0.378 63906 chr17 8076871 8076871 G A rs77558339 SNORD118 0 0 0.051 0 0 0 0 15 0 0 1 0 2.817 63907 chr8 120977489 120977489 A G rs34057546 DEPTOR Nonsynonymous SNV N47S 0.019 0.026 0.027 7 22 10 0.018 8 0 0 0 0 8.355 63908 chr8 17541957 17541957 C T rs74754090 MTUS1 Synonymous SNV T72T 0.015 0.029 0.031 7 18 11 0.018 9 0 0 0 0 14.63 63909 chr8 17611959 17611959 T G rs17690844 MTUS1 Nonsynonymous SNV K453T 0.014 0.021 0.014 7 17 8 0.018 4 0 1 0 0 11.8 63910 chr7 139762488 139762488 G A PARP12 Nonsynonymous SNV R54W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 63911 chr7 23213734 23213734 T C rs113256550 KLHL7 Synonymous SNV V526V 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 2.497 63912 chr8 17726069 17726069 C A rs2653414 FGL1 Nonsynonymous SNV W256L 0.027 0.029 0.024 5 32 11 0.013 7 2 0 0 0 33 63913 chr8 17731961 17731961 G A rs2653406 FGL1 Nonsynonymous SNV P105L 0.116 0.107 0.088 22 136 41 0.056 26 10 3 2 0 18.26 63914 chr7 23236842 23236842 C T rs1637214 NUP42 Nonsynonymous SNV P3L 0.042 0.039 0.048 13 49 15 0.033 14 2 0 0 0 7.88 63915 chr7 23286525 23286525 T C rs35519567 GPNMB Synonymous SNV L17L 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.475 63916 chr7 23299648 23299648 C T rs17147995 GPNMB Synonymous SNV N197N 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 11.41 63917 chr7 23300184 23300184 T A rs35019508 GPNMB Synonymous SNV P270P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 10.86 63918 chr8 17814826 17814826 A G rs557039054 PCM1 Nonsynonymous SNV Q567R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.695 63919 chr7 23300345 23300345 C T rs35363287 GPNMB Nonsynonymous SNV P324L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 22.8 63920 chr7 23313738 23313738 C A rs35878037 GPNMB Nonsynonymous SNV S538R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 0.951 63921 chr8 17849147 17849147 C T rs370429 PCM1 Nonsynonymous SNV T1488I 0.059 0.042 0.068 11 69 16 0.028 20 3 1 1 0 21.8 63922 chr7 73280019 73280019 C T rs200681954 TMEM270 Nonsynonymous SNV T205I 0.003 0 0 0 3 0 0 0 0 0 0 0 28.8 63923 chr7 73631177 73631177 C G rs144269935 LAT2 Nonsynonymous SNV I39M 0.021 0.023 0.014 4 25 9 0.01 4 0 0 0 0 25.9 63924 chr8 18080001 18080001 G A rs4987076 NAT1 Nonsynonymous SNV V149I 0.069 0.055 0.048 18 81 21 0.046 14 5 2 0 0 Benign 0.071 63925 chr19 55992992 55992992 C T rs74442469 ZNF628 Synonymous SNV G144G 0.069 0.055 0.061 15 81 21 0.038 18 4 0 0 1 9.788 63926 chr8 18080015 18080015 G A rs4986990 NAT1 Synonymous SNV T153T 0.069 0.055 0.048 18 81 21 0.046 14 5 2 0 0 11.65 63927 chr8 18080196 18080196 T G rs4986783 NAT1 Nonsynonymous SNV S214A 0.069 0.055 0.048 18 81 21 0.046 14 5 2 0 0 0.002 63928 chr19 53454321 53454321 T C rs147910359 ZNF816 Nonsynonymous SNV K236R 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 15.72 63929 chr17 902802 902802 G A rs62640032 TIMM22 Synonymous SNV T162T 0.011 0.013 0.01 4 13 5 0.01 3 0 0 0 0 14.51 63930 chr17 925764 925764 A G rs2663345 MIR3183 0 0 0.306 0 0 0 0 90 0 0 17 0 13.67 63931 chr19 55994708 55994708 A G rs114775834 ZNF628 Synonymous SNV Q716Q 0.069 0.055 0.058 16 81 21 0.041 17 4 0 0 1 0.635 63932 chr19 55994823 55994823 G A rs115143283 ZNF628 Nonsynonymous SNV G755S 0.067 0.055 0.048 16 79 21 0.041 14 4 0 0 1 6.519 63933 chr19 35610288 35610288 A G rs62120434 FXYD3 Nonsynonymous SNV K3R 0.009 0.005 0.01 1 10 2 0.003 3 0 0 0 0 11.19 63934 chr20 3669165 3669165 T G rs671650 SIGLEC1 Nonsynonymous SNV N1700T 0.009 0.01 0.007 1 11 4 0.003 2 0 0 0 0 5.256 63935 chr19 56009465 56009465 G A rs11672130 SSC5D Nonsynonymous SNV G536S 0.078 0.057 0.044 38 92 22 0.097 13 3 0 1 1 10.78 63936 chr19 53573236 53573236 C T rs74897323 ZNF160 Nonsynonymous SNV S184N 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 0.127 63937 chr20 3675136 3675136 G A rs709020 SIGLEC1 Synonymous SNV G996G 0.009 0.01 0.007 1 11 4 0.003 2 0 0 0 0 Benign 11.59 63938 chr18 10672851 10672851 A G rs142605748 PIEZO2 Synonymous SNV I2614I 0.048 0.042 0.082 19 56 16 0.049 24 2 0 1 0 7.626 63939 chr8 12878843 12878843 C A rs505480 TRMT9B Nonsynonymous SNV P93T 0.026 0.029 0.051 15 31 11 0.038 15 0 0 0 1 14.29 63940 chr8 195879 195879 C T rs116191154 ZNF596 Synonymous SNV F344F 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 15.73 63941 chr7 2752241 2752241 G A rs373933360 AMZ1 Nonsynonymous SNV R409Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 9.192 63942 chr8 143816828 143816828 G A rs11540544 THEM6 Nonsynonymous SNV G147R 0.01 0.01 0.007 4 12 4 0.01 2 0 0 0 0 17.62 63943 chr19 36050725 36050725 C T rs201471725 ATP4A Synonymous SNV G346G 0.006 0.003 0 0 7 1 0 0 0 0 0 0 13.71 63944 chr8 2033415 2033415 C T rs142749566 MYOM2 Nonsynonymous SNV P513S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 63945 chr19 36050783 36050783 G C rs201382109 ATP4A Nonsynonymous SNV T327S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 10.33 63946 chr20 3846662 3846662 C T rs112658509 MAVS Synonymous SNV A356A 0.02 0.013 0.02 3 23 5 0.008 6 0 0 0 0 Benign 14.26 63947 chr7 29160646 29160646 G A rs36074676 CPVL Nonsynonymous SNV S11L 0.019 0.026 0.024 16 22 10 0.041 7 0 0 0 1 0.021 63948 chr19 36430504 36430504 C T rs373149661 LRFN3 Synonymous SNV R59R 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 7.264 63949 chr19 56388527 56388527 T A rs117456828 NLRP4 Synonymous SNV I897I 0.044 0.029 0.037 23 52 11 0.059 11 0 0 0 2 9.43 63950 chr19 36431128 36431128 C T rs113686388 LRFN3 Synonymous SNV D267D 0.012 0.018 0.007 1 14 7 0.003 2 0 0 0 0 8.647 63951 chr8 21977355 21977355 G C rs766467180 HR Synonymous SNV L965L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 63952 chr18 13055843 13055843 G A rs554880129 CEP192 Nonsynonymous SNV R1085Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 63953 chr8 133584558 133584558 A G rs9297853 LRRC6 Nonsynonymous SNV I384T 0.108 0.102 0.109 35 127 39 0.09 32 8 3 3 0 Benign/Likely benign 24 63954 chr18 19284605 19284605 G A rs140723099 ABHD3 Synonymous SNV L8L 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 12.01 63955 chr8 144662230 144662230 C T rs10090485 EEF1D Synonymous SNV K229K 0.057 0.044 0.037 27 67 17 0.069 11 2 0 1 2 17.56 63956 chr7 143772136 143772136 T G OR2A25 Nonsynonymous SNV L275R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 63957 chr19 37129806 37129806 G A rs61746529 ZNF461 Nonsynonymous SNV H458Y 0.02 0.018 0.024 4 23 7 0.01 7 0 0 0 0 14.09 63958 chr19 37209866 37209866 T C rs34642314 ZNF567 Synonymous SNV A49A 0.038 0.039 0.031 17 45 15 0.044 9 6 0 0 1 0.063 63959 chr18 21393025 21393025 C T LAMA3 Synonymous SNV S582S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 63960 chr18 21441698 21441698 C T rs373710114 LAMA3 Nonsynonymous SNV A1504V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 63961 chr19 54968943 54968943 G A rs371522173 LENG8 Synonymous SNV L583L 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 9.887 63962 chr8 139163622 139163622 G A rs117634087 FAM135B Synonymous SNV N1032N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.376 63963 chr20 16360654 16360654 T C rs112875458 KIF16B Nonsynonymous SNV I665V 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 23.9 63964 chr7 148987069 148987071 AGG - rs565273255 LOC155060 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 63965 chr20 16712954 16712954 A G rs141440350 SNRPB2 Synonymous SNV Q70Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.101 63966 chr20 17606220 17606220 C T rs145483952 RRBP1 Synonymous SNV S997S 0.03 0.029 0.034 6 35 11 0.015 10 1 0 0 0 Benign 20.8 63967 chr20 17705676 17705676 C T rs777318190 BANF2 Synonymous SNV D2D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.519 63968 chr19 55494856 55494856 C G NLRP2 Stop gain S575X 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.1 63969 chr20 18037391 18037391 G C rs779008318 OVOL2 Synonymous SNV P77P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.33 63970 chr7 38860809 38860809 G T rs77229707 VPS41 Synonymous SNV P101P 0.009 0.003 0.014 6 10 1 0.015 4 0 0 0 0 8.958 63971 chr8 144994028 144994028 C T rs34132016 PLEC Nonsynonymous SNV G3307R 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.192 63972 chr7 3991418 3991418 - CCT rs557107791 SDK1 L340_H341insL 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 63973 chr7 42005007 42005007 G A rs118149040 GLI3 Nonsynonymous SNV P1222S 0.014 0.01 0.017 13 17 4 0.033 5 0 0 0 0 Benign/Likely benign 0.001 63974 chr8 143816794 143816794 C T rs775156752 THEM6 Synonymous SNV N135N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.34 63975 chr19 55595001 55595001 C T EPS8L1 Synonymous SNV V331V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 19.28 63976 chr7 92844758 92844758 G - rs755911264 HEPACAM2 P212Lfs*23 0.003 0.003 0 0 4 1 0 0 0 0 0 0 63977 chr19 38652962 38652962 C T rs61729129 SIPA1L3 Nonsynonymous SNV P1244L 0.01 0.018 0 1 12 7 0.003 0 0 0 0 0 17.57 63978 chr19 55673145 55673145 C T rs58824375 DNAAF3 Nonsynonymous SNV G245S 0.025 0.013 0.014 18 29 5 0.046 4 0 0 0 0 Benign/Likely benign 10.88 63979 chr8 28210909 28210909 G A rs758797339 ZNF395 Synonymous SNV C200C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.981 63980 chr8 29990283 29990283 C T rs151282168 MBOAT4 Nonsynonymous SNV A162T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.007 63981 chr19 55857665 55857665 G C KMT5C Nonsynonymous SNV E219Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.8 63982 chr19 58596112 58596112 G A rs367790148 ZSCAN18 Synonymous SNV G355G 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 8.604 63983 chr18 42456591 42456591 A G rs962566688 SETBP1 Nonsynonymous SNV K201R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.604 63984 chr19 58773014 58773014 C T rs142898242 ZNF544 Stop gain Q320X 0.009 0.005 0.003 5 10 2 0.013 1 0 0 0 0 36 63985 chr8 32621630 32621630 C T rs80127039 NRG1 Nonsynonymous SNV R388W 0.023 0.023 0.014 6 27 9 0.015 4 1 0 0 0 33 63986 chr19 58861821 58861821 G A rs147512196 A1BG Synonymous SNV S369S 0.017 0.01 0.003 10 20 4 0.026 1 0 0 0 0 15.23 63987 chr8 145581866 145581866 G A FBXL6 Nonsynonymous SNV P81L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.54 63988 chr19 55997114 55997114 A G rs145478522 NAT14 Synonymous SNV E13E 0.014 0.023 0 4 16 9 0.01 0 0 0 0 0 7.872 63989 chr8 35583692 35583692 T C rs6983275 UNC5D Synonymous SNV S437S 0.023 0.034 0.027 8 27 13 0.021 8 1 0 1 0 3.096 63990 chr19 58928751 58928751 G A rs35111737 ZNF584 Nonsynonymous SNV R244Q 0.012 0.005 0.014 5 14 2 0.013 4 0 0 0 0 10.3 63991 chr8 35583815 35583815 G C rs6996645 UNC5D Synonymous SNV V478V 0.023 0.034 0.027 8 27 13 0.021 8 1 0 1 0 8.73 63992 chr8 35606168 35606168 T C rs1436615 UNC5D Synonymous SNV H625H 0.02 0.018 0.02 9 23 7 0.023 6 1 0 1 0 4.125 63993 chr8 35624434 35624434 C A rs16884404 UNC5D Synonymous SNV S771S 0.02 0.021 0.02 9 23 8 0.023 6 1 0 1 0 17.31 63994 chr8 145659636 145659636 C T TONSL Nonsynonymous SNV V1038M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.669 63995 chr7 150934827 150934827 G A rs144589067 CHPF2 Nonsynonymous SNV R460Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 19.52 63996 chr18 43668153 43668153 T G rs202149613 ATP5F1A Nonsynonymous SNV K191Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 63997 chr7 45123738 45123857 CGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAA - NACAD V641_S680del 0.005 0 0.003 0 6 0 0 1 1 0 0 0 63998 chr7 45753418 45753418 G A rs76737937 ADCY1 Nonsynonymous SNV G1062S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 19.08 63999 chr18 44639376 44639376 G A rs748903283 HDHD2 Synonymous SNV V126V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 64000 chr8 39862893 39862893 T A rs35212142 IDO2 Nonsynonymous SNV S252T 0.024 0.021 0.017 16 28 8 0.041 5 0 0 0 0 23.6 64001 chr19 56181019 56181019 C T rs147666260 U2AF2 Synonymous SNV P414P 0.03 0.026 0.024 5 35 10 0.013 7 1 0 0 0 17.12 64002 chr8 41530332 41530332 C T rs1060130 ANK1 Nonsynonymous SNV V1546I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 17.69 64003 chr8 10411513 10411513 G - rs142551217 PRSS55 S269Lfs*33 0.031 0.023 0.054 17 36 9 0.044 16 2 0 1 1 64004 chr18 47566678 47566678 C G rs141998504 MYO5B Nonsynonymous SNV E49Q 0.003 0 0.007 7 3 0 0.018 2 0 0 0 0 Benign 13.76 64005 chr20 1293370 1293370 C G rs777399533 SDCBP2 Nonsynonymous SNV A56P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 64006 chr19 40929204 40929204 C T rs145548575 SERTAD1 Nonsynonymous SNV A84T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.006 64007 chr7 4798762 4798762 G A FOXK1 Nonsynonymous SNV R442Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 34 64008 chr18 51807260 51807260 A G rs3218784 POLI Nonsynonymous SNV I219M 0.02 0.031 0.01 5 24 12 0.013 3 0 0 0 0 24.4 64009 chr18 5238230 5238230 G - rs11363931 LINC00667 0 0 0.024 0 0 0 0 7 0 0 0 0 64010 chr18 5238507 5238507 G C rs79570056 LINC00667 0 0 0.024 0 0 0 0 7 0 0 0 0 6.563 64011 chr20 2591098 2591098 T C TMC2 Nonsynonymous SNV C483R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.3 64012 chr7 1784274 1784274 G A rs545520580 ELFN1 Synonymous SNV A14A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 4.259 64013 chr8 6302033 6302033 A G rs34121009 MCPH1 Nonsynonymous SNV I216V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.001 64014 chr7 48559666 48559666 G A rs62447309 ABCA13 Synonymous SNV K4609K 0.03 0.031 0.031 13 35 12 0.033 9 2 1 0 1 11.57 64015 chr7 20739465 20739465 T C rs11772720 ABCB5 Synonymous SNV D279D 0.013 0.01 0.007 2 15 4 0.005 2 0 0 0 0 3.465 64016 chr7 48559696 48559696 T C rs61378229 ABCA13 Synonymous SNV C4619C 0.03 0.031 0.031 13 35 12 0.033 9 2 1 0 1 1.134 64017 chr7 48563913 48563913 A G rs61705907 ABCA13 Synonymous SNV R4707R 0.03 0.031 0.031 13 35 12 0.033 9 2 1 0 1 0.249 64018 chr19 57036725 57036725 C G rs117330176 ZNF471 Nonsynonymous SNV P356R 0.02 0.029 0.02 7 24 11 0.018 6 1 0 0 0 26.2 64019 chr8 110464510 110464510 G A rs72687022 PKHD1L1 0.018 0.01 0.024 8 21 4 0.021 7 0 0 0 1 Benign 24.3 64020 chr19 57050444 57050444 C A rs61730414 ZFP28 Synonymous SNV G19G 0.006 0.008 0.014 4 7 3 0.01 4 0 0 0 0 17.99 64021 chr8 110505957 110505957 G A rs367693243 PKHD1L1 Nonsynonymous SNV R3435H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 64022 chr20 36624780 36624780 C T rs34900517 TTI1 Nonsynonymous SNV R1028K 0.04 0.039 0.041 20 47 15 0.051 12 1 0 1 1 19.17 64023 chr8 2005883 2005883 C T rs17064618 MYOM2 Nonsynonymous SNV T182M 0.062 0.076 0.051 14 73 29 0.036 15 0 2 0 0 23.5 64024 chr8 2040181 2040181 T G rs17064685 MYOM2 Synonymous SNV P612P 0.047 0.034 0.044 22 55 13 0.056 13 2 0 2 1 0.723 64025 chr19 57133954 57133954 C T rs144893950 ZNF71 Synonymous SNV T433T 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 12.48 64026 chr7 21639520 21639520 A T rs201386161 DNAH11 Nonsynonymous SNV D928V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 20.4 64027 chr8 145163540 145163540 G A rs535489249 WDR97 Nonsynonymous SNV V191M 0.013 0.01 0.007 6 15 4 0.015 2 0 0 0 0 0.496 64028 chr20 37275756 37275756 A G ARHGAP40 Nonsynonymous SNV S622G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.024 64029 chr7 50660787 50660787 G A rs3807550 GRB10 Synonymous SNV D503D 0.039 0.023 0.048 12 46 9 0.031 14 2 0 1 0 9.218 64030 chr19 42485704 42485704 G A rs150785666 ATP1A3 Nonsynonymous SNV R474C 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 64031 chr19 57325727 57325727 - TCT rs572444111 PEG3 E1205_D1206insE 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 64032 chr8 6669004 6669004 G A rs536136130 XKR5 Synonymous SNV P592P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.689 64033 chr7 51096147 51096147 A G rs61739182 COBL Synonymous SNV H882H 0.066 0.057 0.082 20 78 22 0.051 24 2 1 0 1 0.083 64034 chr19 44057574 44057574 G A rs1799782 XRCC1 Nonsynonymous SNV R194W 0.092 0.086 0.078 30 108 33 0.077 23 7 3 3 1 not provided 32 64035 chr8 145171113 145171113 C T rs528459469 WDR97 Nonsynonymous SNV R1596C 0.009 0.008 0.007 6 11 3 0.015 2 0 0 0 0 28 64036 chr7 51097193 51097193 C T rs146340138 COBL Nonsynonymous SNV G534S 0.012 0.003 0.014 0 14 1 0 4 0 0 0 0 0.003 64037 chr20 3731479 3731479 G A rs149601399 HSPA12B Nonsynonymous SNV G358R 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 33 64038 chr7 53103401 53103401 G A rs373793681 POM121L12 Nonsynonymous SNV G13R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.584 64039 chr7 2317934 2317934 G A rs117886084 SNX8 Nonsynonymous SNV P34L 0.027 0.031 0.014 8 32 12 0.021 4 1 0 0 0 Benign 22.1 64040 chr8 70585299 70585299 C T rs61733912 SLCO5A1 Synonymous SNV V729V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 13.01 64041 chr7 24839891 24839891 C T rs139154799 OSBPL3 Nonsynonymous SNV D792N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.016 64042 chr19 57932561 57932561 C T rs146783001 ZNF17 Synonymous SNV S567S 0.012 0.01 0.003 8 14 4 0.021 1 0 0 0 0 18.17 64043 chr8 145725661 145725661 G A rs536282328 PPP1R16A Nonsynonymous SNV D198N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 29 64044 chr8 73951417 73951417 C T rs148824563 TERF1 Nonsynonymous SNV P349L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.48 64045 chr20 5903563 5903563 G A rs73894084 CHGB Nonsynonymous SNV R258Q 0.009 0.003 0.007 6 11 1 0.015 2 0 0 0 0 0.21 64046 chr7 6071115 6071115 A G rs12334093 ANKRD61 Nonsynonymous SNV M37V 0.041 0.029 0.041 7 48 11 0.018 12 2 0 0 0 0.003 64047 chr7 2611867 2611867 C A rs11976972 IQCE Nonsynonymous SNV H36N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 11.33 64048 chr18 6588865 6588865 T C rs12326052 LINC01387 0 0 0.088 0 0 0 0 26 0 0 2 0 12.21 64049 chr20 5943956 5943956 G C rs61752028 MCM8 Nonsynonymous SNV A276P 0.009 0.003 0.003 5 11 1 0.013 1 0 0 0 0 0.071 64050 chr20 5948542 5948542 G A rs28403619 MCM8 Nonsynonymous SNV S365N 0.009 0.003 0.003 5 11 1 0.013 1 0 0 0 0 13.71 64051 chr18 67718651 67718651 C G rs35439940 RTTN Synonymous SNV A861A 0.022 0.005 0.017 7 26 2 0.018 5 1 0 0 0 Benign 11.5 64052 chr20 6022529 6022529 C G rs139701837 LRRN4 Nonsynonymous SNV R454S 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 0.004 64053 chr19 58213055 58213055 G A rs200741090 ZNF154 Nonsynonymous SNV S421F 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 20.4 64054 chr7 2687228 2687228 G T rs62439525 TTYH3 Synonymous SNV S194S 0.014 0.013 0.017 4 16 5 0.01 5 1 0 0 0 10.76 64055 chr8 26227800 26227800 A G rs147228155 PPP2R2A Synonymous SNV K415K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.032 64056 chr18 6956238 6956238 C A rs16950868 LOC101927188 0 0 0.211 0 0 0 0 62 0 0 16 0 7.415 64057 chr8 8185746 8185746 T C rs56215812 PRAG1 Nonsynonymous SNV H849R 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 24.4 64058 chr20 10628750 10628750 G A rs1801139 JAG1 Synonymous SNV I526I 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign/Likely benign 14.48 64059 chr18 6983194 6983194 G T rs11661974 LAMA1 Synonymous SNV T1900T 0.051 0.039 0.061 12 60 15 0.031 18 1 0 0 1 11.15 64060 chr8 82370880 82370880 T C rs61729473 FABP9 Nonsynonymous SNV E102G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 64061 chr7 2751987 2751987 G A rs61745221 AMZ1 Nonsynonymous SNV G268S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 8.889 64062 chr19 58788583 58788630 GGCCAGAAGGATCTGAGAGAGTGTGGCCAGCTTGAGCCCTCAGGAGTC - rs570026104 ZNF544 R93R 0.128 0.141 0.201 44 150 54 0.113 59 19 9 9 6 64063 chr8 87226700 87226700 A G rs9656982 SLC7A13 Nonsynonymous SNV M452T 0.075 0.068 0.044 38 88 26 0.097 13 3 0 1 2 23 64064 chr8 87229890 87229890 G A rs72688509 SLC7A13 Nonsynonymous SNV L330F 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 23.9 64065 chr19 44680489 44680489 G A rs2178342 ZNF226 Synonymous SNV T358T 0.018 0.013 0.024 5 21 5 0.013 7 1 0 0 0 10.35 64066 chr8 87229948 87229948 T A rs4621787 SLC7A13 Synonymous SNV S310S 0.075 0.068 0.044 38 88 26 0.097 13 3 0 1 2 6.757 64067 chr19 44681717 44681717 T G rs199815905 ZNF226 Nonsynonymous SNV S768A 0.011 0.01 0.007 1 13 4 0.003 2 1 0 0 0 12.68 64068 chr19 44740602 44740602 G A rs3810137 ZNF227 Synonymous SNV S594S 0.018 0.013 0.024 5 21 5 0.013 7 1 0 0 0 2.493 64069 chr8 28974449 28974449 G T rs192711591 KIF13B Synonymous SNV R1246R 0.015 0.008 0.01 4 18 3 0.01 3 0 0 0 0 7.637 64070 chr18 7231881 7231881 A G rs144753731 LRRC30 Nonsynonymous SNV S249G 0.011 0.021 0.024 3 13 8 0.008 7 1 0 0 0 0.033 64071 chr18 72343154 72343154 A G rs753684840 ZNF407 Nonsynonymous SNV D60G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.024 64072 chr20 49221303 49221303 T C rs116905185 RIPOR3 Nonsynonymous SNV D322G 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 27.3 64073 chr7 73753191 73753191 C T rs61739991 CLIP2 Nonsynonymous SNV P179S 0.026 0.016 0.007 8 30 6 0.021 2 0 0 0 0 Benign 20.9 64074 chr8 134072363 134072363 G T rs4486183 SLA Nonsynonymous SNV P55T 0.03 0.013 0.02 7 35 5 0.018 6 0 0 0 0 11.13 64075 chr18 74631811 74631811 G A rs949088817 ZNF236 Synonymous SNV T1118T 0 0 0.003 0 0 0 0 1 0 0 0 0 15 64076 chr19 45029232 45029232 G T rs368383252 CEACAM20 Nonsynonymous SNV T33N 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 1.022 64077 chr8 98289721 98289721 C T rs118032326 TSPYL5 Nonsynonymous SNV A118T 0.005 0.01 0.014 1 6 4 0.003 4 0 0 0 0 6.289 64078 chr19 45262848 45262848 C A rs139295630 BCL3 Synonymous SNV P447P 0.039 0.068 0.027 21 46 26 0.054 8 0 2 0 0 13.46 64079 chr8 33310796 33310796 C G rs377377311 FUT10 Nonsynonymous SNV C105S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 26.7 64080 chr7 32909425 32909425 A G KBTBD2 Synonymous SNV G468G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.221 64081 chr20 944649 944649 T G rs61740632 RSPO4 Nonsynonymous SNV H175P 0.035 0.044 0.044 12 41 17 0.031 13 0 0 0 1 0.018 64082 chr19 45491394 45491394 C T rs142558080 CLPTM1 Synonymous SNV I351I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.36 64083 chr19 45575251 45575251 C T rs138866921 ZNF296 Nonsynonymous SNV G346S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 18.14 64084 chr19 45720827 45720827 G A EXOC3L2 Nonsynonymous SNV R260W 0.006 0.003 0 0 7 1 0 0 0 0 0 0 32 64085 chr7 7712942 7712953 AGCAGCAGCAGC - rs148595964 UMAD1 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 64086 chr7 36459862 36459862 C T rs569378477 ANLN Nonsynonymous SNV R615C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 64087 chr19 45853977 45853977 C T rs551647275 KLC3 Stop gain R451X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 40 64088 chr19 46119728 46119728 G T rs376045352 EML2 Synonymous SNV G384G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.663 64089 chr8 22548790 22548790 G T rs3750192 EGR3 Synonymous SNV L82L 0.058 0.049 0.092 22 68 19 0.056 27 3 0 2 2 2.161 64090 chr9 103002451 103002451 C T rs2491097 INVS Nonsynonymous SNV S242L 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign/Likely benign 33 64091 chr20 25439036 25439036 G A rs41310175 NINL Nonsynonymous SNV R927C 0.014 0.01 0.024 1 16 4 0.003 7 0 0 0 0 12.99 64092 chr7 40132656 40132656 G A rs3204309 CDK13 Nonsynonymous SNV V1170M 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Benign 24.3 64093 chr9 104032338 104032338 C T rs7847596 PLPPR1 Synonymous SNV T80T 0.037 0.042 0.031 10 43 16 0.026 9 0 0 0 0 13.93 64094 chr20 25485604 25485604 C T rs143641080 NINL Nonsynonymous SNV V210M 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 24.3 64095 chr19 10091500 10091500 T C rs76527273 COL5A3 Synonymous SNV T847T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.197 64096 chr20 58348458 58348458 C T rs144199420 PHACTR3 Synonymous SNV R181R 0.009 0.01 0.027 5 10 4 0.013 8 0 0 0 0 16 64097 chr19 10104322 10104322 A C rs62638740 COL5A3 Synonymous SNV P556P 0.033 0.029 0.027 20 39 11 0.051 8 2 1 0 0 0.319 64098 chr20 58467643 58467643 G A rs374000934 SYCP2 Nonsynonymous SNV S636L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.2 64099 chr8 42036464 42036464 C G rs61755432 PLAT Nonsynonymous SNV G405A 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 Uncertain significance 23.4 64100 chr8 43027522 43027522 T G HGSNAT Nonsynonymous SNV S271R 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 15.08 64101 chr8 23002107 23002107 C T rs35763670 TNFRSF10D Synonymous SNV G270G 0.012 0.005 0.01 6 14 2 0.015 3 0 0 0 0 11.73 64102 chr7 87138760 87138760 T G rs55852620 ABCB1 Nonsynonymous SNV Q1107P 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 21.6 64103 chr20 30496398 30496398 G A rs184016363 TTLL9 Nonsynonymous SNV G71R 0.032 0.013 0.02 4 37 5 0.01 6 0 0 0 0 24.1 64104 chr20 60886987 60886987 G A rs944896 LAMA5 Synonymous SNV S3208S 0.053 0.049 0.027 22 62 19 0.056 8 1 1 0 0 12.64 64105 chr9 107266694 107266694 C T rs61748307 OR13F1 Synonymous SNV L51L 0.017 0.026 0.041 16 20 10 0.041 12 0 0 0 0 8.486 64106 chr19 46823803 46823803 C T rs61755707 HIF3A Nonsynonymous SNV P308S 0.02 0.016 0.027 13 23 6 0.033 8 0 0 0 0 8.306 64107 chr8 56698830 56698830 A G TGS1 Nonsynonymous SNV K32E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.2 64108 chr8 57876576 57876576 T C rs112433249 IMPAD1 Nonsynonymous SNV K286E 0.007 0.008 0.017 7 8 3 0.018 5 0 0 0 0 Benign 6.649 64109 chr9 107583760 107583760 C T rs778090330 ABCA1 Synonymous SNV P952P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 64110 chr20 60911471 60911471 C T rs201119098 LAMA5 Nonsynonymous SNV V750M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.6 64111 chr7 89854754 89854754 A G rs140606206 STEAP2 Nonsynonymous SNV M120V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.913 64112 chr9 108234242 108234242 G T rs117347201 FSD1L Nonsynonymous SNV A101S 0.013 0.021 0.017 6 15 8 0.015 5 0 0 0 0 25.1 64113 chr9 108397495 108397495 A G rs41313301 FKTN Nonsynonymous SNV N446D 0.02 0.026 0.02 8 23 10 0.021 6 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 64114 chr20 31813013 31813013 G A rs142257117 BPIFA3 Nonsynonymous SNV D130N 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 0.046 64115 chr8 143927918 143927918 A G rs142273167 GML Nonsynonymous SNV N97D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.65 64116 chr9 111651621 111651621 C G rs140024352 ELP1 Nonsynonymous SNV E722D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.28 64117 chr19 10742166 10742166 C T rs147820753 SLC44A2 Nonsynonymous SNV L151F 0.006 0 0.01 3 7 0 0.008 3 0 0 0 0 23.9 64118 chr7 90042282 90042282 A G rs76988207 CLDN12 Nonsynonymous SNV M98V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.177 64119 chr20 33118004 33118004 C T rs17091880 DYNLRB1 Synonymous SNV H22H 0.016 0.013 0.02 7 19 5 0.018 6 0 0 0 0 4.194 64120 chr9 111755014 111755014 T G rs148455751 CTNNAL1 Synonymous SNV T139T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.627 64121 chr19 11034582 11034582 C T rs77275750 YIPF2 Nonsynonymous SNV R154H 0.011 0.005 0.024 4 13 2 0.01 7 0 0 1 0 15.93 64122 chr20 33588193 33588193 G A rs201963394 MYH7B Nonsynonymous SNV G1669S 0.022 0.018 0.02 7 26 7 0.018 6 0 0 0 0 Benign 20.3 64123 chr8 68421768 68421768 G C rs17853192 CPA6 Nonsynonymous SNV S173C 0.087 0.104 0.065 30 102 40 0.077 19 4 0 0 3 Benign/Likely benign 28.4 64124 chr20 33591353 33591353 G A rs200035230 TRPC4AP Nonsynonymous SNV P706S 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 23.5 64125 chr9 111956668 111956668 G A rs41278379 EPB41L4B Synonymous SNV D685D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.793 64126 chr9 113148181 113148181 C G rs145193955 SVEP1 Nonsynonymous SNV E3412Q 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 24.3 64127 chr20 33868487 33868487 G A rs138400954 EIF6 Synonymous SNV Y113Y 0.02 0.016 0.02 7 23 6 0.018 6 0 0 0 0 10.41 64128 chr8 144680469 144680469 C T rs571709743 TIGD5 Synonymous SNV F132F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.975 64129 chr19 12187621 12187621 T C rs79709447 ZNF844 Synonymous SNV N562N 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.674 64130 chr19 48741730 48741730 C T rs200821759 CARD8 Nonsynonymous SNV R40Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 10.01 64131 chr8 144801303 144801303 G A rs56142513 MAPK15 Synonymous SNV P186P 0.028 0.029 0.031 14 33 11 0.036 9 0 0 0 0 9.901 64132 chr8 144801593 144801593 C A rs60732298 MAPK15 Nonsynonymous SNV T221K 0.032 0.029 0.068 14 38 11 0.036 20 0 0 0 0 28.2 64133 chr19 1257136 1257136 C T rs142058269 MIDN Synonymous SNV A424A 0.009 0.008 0.014 4 11 3 0.01 4 0 0 0 0 Benign 16.23 64134 chr8 77690582 77690582 C T rs372702433 ZFHX4 Nonsynonymous SNV R1078W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.2 64135 chr7 98506375 98506375 C T rs782303409 TRRAP Synonymous SNV A380A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 64136 chr8 144809268 144809268 C T rs56148058 FAM83H Nonsynonymous SNV S788N 0.026 0.023 0.034 12 30 9 0.031 10 0 0 0 0 24 64137 chr19 12637648 12637648 A G ZNF564 Nonsynonymous SNV V425A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 64138 chr20 62195645 62195645 C T rs45625632 HELZ2 Synonymous SNV P941P 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 8.546 64139 chr8 77754904 77754904 G A rs1825366 ZFHX4 Synonymous SNV E1136E 0.047 0.055 0.119 28 55 21 0.072 35 1 0 1 0 1.344 64140 chr7 98507898 98507898 G A rs113402444 TRRAP Nonsynonymous SNV V524M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 18.9 64141 chr8 77767797 77767797 C T rs16939379 ZFHX4 Synonymous SNV G2880G 0.056 0.063 0.133 31 66 24 0.079 39 3 0 1 1 13.31 64142 chr19 12767849 12767849 C A rs34544747 MAN2B1 Nonsynonymous SNV A481S 0.016 0.026 0.037 5 19 10 0.013 11 0 0 1 0 Benign 13.17 64143 chr7 98515113 98515113 C T rs35145380 TRRAP Synonymous SNV L811L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.718 64144 chr9 115760433 115760433 A C ZNF883 Nonsynonymous SNV I36S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.448 64145 chr7 98951612 98951612 T C rs150009166 ARPC1A Nonsynonymous SNV L180P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 64146 chr19 49206625 49206625 C T rs1800022 FUT2 Nonsynonymous SNV R138C 0.014 0.018 0.007 7 17 7 0.018 2 0 0 0 0 28.5 64147 chr19 12800597 12800597 T C rs73921601 FBXW9 Nonsynonymous SNV N375S 0.012 0.021 0.034 4 14 8 0.01 10 0 0 1 0 0.001 64148 chr7 99022991 99022991 C T rs115063018 ATP5MF-PTCD1, PTCD1 Synonymous SNV L388L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 64149 chr7 99026729 99026729 G C rs145752109 ATP5MF-PTCD1, PTCD1 Synonymous SNV L304L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 64150 chr19 12805431 12805431 T C rs10424623 FBXW9 Nonsynonymous SNV T219A 0.014 0.023 0.037 5 17 9 0.013 11 0 0 1 0 0.362 64151 chr19 12805525 12805525 G C rs10416965 FBXW9 Synonymous SNV L187L 0.014 0.023 0.037 5 17 9 0.013 11 0 0 1 0 3.466 64152 chr19 12807066 12807066 G C rs6511832 FBXW9 Synonymous SNV L110L 0.014 0.023 0.037 4 17 9 0.01 11 0 0 1 0 1.971 64153 chr19 12807187 12807187 C T rs6511833 FBXW9 Nonsynonymous SNV R70K 0.014 0.023 0.037 4 16 9 0.01 11 0 0 1 0 0.072 64154 chr7 99091458 99091458 C T rs114413880 ZNF394 Synonymous SNV Q460Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 64155 chr7 99110213 99110213 T C rs61735345 ZKSCAN5 Synonymous SNV N184N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.18 64156 chr19 12813683 12813683 T C rs16978630 TNPO2 Synonymous SNV E753E 0.014 0.023 0.037 4 16 9 0.01 11 0 0 1 0 8.113 64157 chr7 99145020 99145020 G A rs570574827 FAM200A Synonymous SNV D337D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.435 64158 chr8 3263571 3263571 G A rs146267457 CSMD1 Synonymous SNV S748S 0.024 0.018 0.014 4 28 7 0.01 4 0 0 0 0 Benign 9.891 64159 chr19 12921196 12921196 T A rs62619782 RNASEH2A Nonsynonymous SNV D205E 0.009 0.023 0.02 2 10 9 0.005 6 0 0 0 0 Benign 14.56 64160 chr19 12958673 12958673 G A rs113777003 MAST1 Synonymous SNV Q192Q 0.009 0.023 0.024 3 10 9 0.008 7 0 0 0 0 8.214 64161 chr8 37696542 37696542 C T rs747771804 ADGRA2 Synonymous SNV C776C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.547 64162 chr19 12996929 12996929 T G rs112631212 KLF1 Nonsynonymous SNV M39L 0.01 0.023 0.024 3 12 9 0.008 7 0 0 0 0 Benign 5.012 64163 chr7 99691912 99691912 C T MCM7 Nonsynonymous SNV A402T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 64164 chr8 144992900 144992900 G A rs17062686 PLEC Synonymous SNV L3683L 0.028 0.023 0.044 14 33 9 0.036 13 0 0 0 0 Benign/Likely benign 0.004 64165 chr19 13010516 13010516 G A rs113720193 GCDH Nonsynonymous SNV V416I 0.011 0.023 0.024 3 13 9 0.008 7 0 0 0 0 6.864 64166 chr7 51096074 51096074 G A COBL Nonsynonymous SNV P907S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.15 64167 chr7 51096121 51096121 T C rs151276908 COBL Nonsynonymous SNV Y891C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.101 64168 chr8 88365919 88365919 G A CNBD1 Nonsynonymous SNV G403D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 64169 chr7 99700577 99700577 A G AP4M1 Synonymous SNV E122E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.737 64170 chr8 88365974 88365974 A G rs923580200 CNBD1 Synonymous SNV K421K 0.002 0 0 5 2 0 0.013 0 0 0 0 0 0.015 64171 chr19 13029078 13029078 C A rs199712923 SYCE2 Nonsynonymous SNV W30L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.302 64172 chr19 13067792 13067792 G C rs140839998 GADD45GIP1 Nonsynonymous SNV P79A 0.011 0.023 0.024 3 13 9 0.008 7 0 0 0 0 0.004 64173 chr7 99998750 99998750 G A rs145308367 ZCWPW1 Synonymous SNV L612L 0.019 0.016 0.003 10 22 6 0.026 1 0 0 0 0 5.478 64174 chr8 9413594 9413594 A G rs201993870 TNKS Nonsynonymous SNV T49A 0.011 0.008 0.007 3 13 3 0.008 2 0 0 0 0 16.81 64175 chr20 62505153 62505153 G A rs146221163 TPD52L2 Nonsynonymous SNV V75M 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Benign 11.95 64176 chr19 1395487 1395487 - CGC rs3065757 NDUFS7 X214delinsX 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 64177 chr20 18511442 18511442 G A rs778179818 SEC23B Nonsynonymous SNV V410I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 19.02 64178 chr19 14194353 14194353 A G C19orf67 Nonsynonymous SNV F182S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 64179 chr20 43977020 43977020 G A rs200474606 SDC4 Nonsynonymous SNV A2V 0.003 0 0 0 3 0 0 0 0 0 0 0 19.86 64180 chr19 14273977 14273977 C T ADGRL1 Synonymous SNV V212V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.406 64181 chr8 41575626 41575626 C T ANK1 Nonsynonymous SNV E402K 0.003 0 0 0 4 0 0 0 0 0 0 0 34 64182 chr7 55229202 55229202 C T rs17336800 EGFR Synonymous SNV G236G 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 10.23 64183 chr19 49671980 49671980 G A rs111930830 TRPM4 Synonymous SNV K146K 0.041 0.044 0.027 12 48 17 0.031 8 1 0 0 0 Benign/Likely benign 9.785 64184 chr19 49793509 49793509 G A rs34486225 SLC6A16 Synonymous SNV D694D 0.008 0.005 0 0 9 2 0 0 0 0 0 0 0.909 64185 chr20 20620529 20620529 T C rs61761203 RALGAPA2 Nonsynonymous SNV E189G 0.019 0.026 0.027 14 22 10 0.036 8 0 0 0 0 17.52 64186 chr9 119583059 119583059 G C ASTN2 Nonsynonymous SNV P631A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 64187 chr20 45644842 45644842 G A EYA2 Synonymous SNV L107L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.28 64188 chr19 15226431 15226431 G A rs374158124 ILVBL Nonsynonymous SNV R556W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 64189 chr7 6474619 6474619 A G rs766265972 DAGLB Nonsynonymous SNV I151T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.1 64190 chr8 145692696 145692696 C T KIFC2 Synonymous SNV A147A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.5 64191 chr7 70255639 70255639 G T rs150926322 AUTS2 Nonsynonymous SNV G1122V 0.019 0.01 0.01 5 22 4 0.013 3 0 0 0 0 Likely benign 12.33 64192 chr20 48156249 48156249 G A rs61322884 PTGIS Synonymous SNV Y177Y 0.028 0.039 0.031 8 33 15 0.021 9 0 0 0 0 9.941 64193 chr19 15882871 15882871 A G rs188199948 CYP4F24P 0.005 0.008 0.007 3 6 3 0.008 2 1 0 0 0 15.65 64194 chr20 48565889 48565889 T C rs138067227 RNF114 Synonymous SNV F206F 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.009 64195 chr9 102713432 102713432 G A rs41273937 STX17 Nonsynonymous SNV V94I 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 15.34 64196 chr8 6669086 6669086 G A rs376128988 XKR5 Nonsynonymous SNV T565M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.518 64197 chr20 31518229 31518229 G A rs117765537 EFCAB8 Nonsynonymous SNV R813H 0.015 0.005 0.014 9 18 2 0.023 4 0 0 0 0 25.6 64198 chr8 16032753 16032753 T C rs137879156 MSR1 Nonsynonymous SNV I72V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.483 64199 chr19 51297835 51297835 G C rs143398878 ACP4 Nonsynonymous SNV G328A 0.016 0.01 0.014 3 19 4 0.008 4 0 0 0 0 Benign 1.4 64200 chr9 125512438 125512438 C G rs117995259 OR1L6 Nonsynonymous SNV F104L 0.025 0.023 0.024 15 29 9 0.038 7 0 0 0 1 23.3 64201 chr8 72184119 72184119 G T rs55972891 EYA1 Synonymous SNV I280I 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 Benign/Likely benign 10.18 64202 chr8 110472066 110472066 G C rs17368310 PKHD1L1 0.023 0.023 0.027 6 27 9 0.015 8 0 0 0 0 23.5 64203 chr19 51359566 51359566 G A rs7252245 KLK3 Synonymous SNV Q39Q 0.016 0.01 0.01 5 19 4 0.013 3 0 0 0 0 0.136 64204 chr8 72968098 72968098 A - rs33967604 MSC-AS1 0.107 0.102 0.099 31 126 39 0.079 29 4 3 4 1 64205 chr20 31671374 31671374 G T rs779054648 BPIFB4 Nonsynonymous SNV R124L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 17.19 64206 chr8 72977703 72977703 C T rs920829 TRPA1 Nonsynonymous SNV E179K 0.106 0.094 0.092 31 125 36 0.079 27 4 3 4 1 32 64207 chr19 16855875 16855875 C T rs146905478 NWD1 Nonsynonymous SNV S3L 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 3.949 64208 chr8 73921259 73921259 G C rs373985315 TERF1 Nonsynonymous SNV E46D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 64209 chr20 54945309 54945309 T C rs33923703 AURKA Nonsynonymous SNV M373V 0.019 0.021 0.01 1 22 8 0.003 3 0 0 0 0 9.094 64210 chr7 76062798 76062798 G A rs74676082 ZP3 Nonsynonymous SNV A183T 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Benign 0.001 64211 chr8 11407734 11407734 C T rs7836533 BLK Synonymous SNV A74A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.16 64212 chr20 32268180 32268180 C T rs145741678 E2F1 Nonsynonymous SNV A102T 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 Likely benign 24.1 64213 chr7 76828599 76828603 TTTTC - rs749954047 FGL2 E170Lfs*3 0 0 0.003 2 0 0 0.005 1 0 0 0 0 64214 chr8 11660362 11660362 T C rs1047643 FDFT1 Nonsynonymous SNV W3R 0.133 0.125 0.119 60 156 48 0.154 35 13 2 5 1 1.833 64215 chr7 77256805 77256805 T C rs112995142 PTPN12 Synonymous SNV S473S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.999 64216 chr8 11710174 11710174 T C rs1803250 CTSB Nonsynonymous SNV S53G 0.101 0.094 0.112 43 119 36 0.11 33 7 1 5 3 14.71 64217 chr9 107589238 107589238 C G rs138880920 ABCA1 Nonsynonymous SNV K776N 0.012 0.008 0.01 3 14 3 0.008 3 0 0 0 0 Benign 27.6 64218 chr7 77648671 77648671 G C rs13438302 MAGI2 Synonymous SNV P1429P 0.097 0.086 0.051 43 114 33 0.11 15 15 4 4 5 Benign 1.982 64219 chr8 79629586 79629586 C T rs77219198 ZC2HC1A Nonsynonymous SNV S279F 0.011 0.016 0.02 3 13 6 0.008 6 0 0 1 0 25.1 64220 chr8 81399152 81399152 C T rs201355421 ZBTB10 Nonsynonymous SNV S36L 0.013 0.01 0.01 5 15 4 0.013 3 0 0 0 0 20.6 64221 chr9 127618752 127618752 C T rs61738476 WDR38 Nonsynonymous SNV T115I 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 28.5 64222 chr7 80418689 80418689 A G rs17275986 SEMA3C Synonymous SNV Y447Y 0.128 0.135 0.126 50 150 52 0.128 37 9 4 2 3 1.133 64223 chr8 18656820 18656820 G A rs150513733 PSD3 Synonymous SNV T155T 0.008 0 0.01 0 9 0 0 3 0 0 0 0 9.167 64224 chr7 81599241 81599241 C G rs151327713 CACNA2D1 Nonsynonymous SNV S755T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign/Likely benign 21.7 64225 chr20 34220531 34220531 T C rs772964150 CPNE1 Nonsynonymous SNV K73E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.4 64226 chr8 121467700 121467700 G C rs570548354 MTBP Synonymous SNV L170L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.32 64227 chr8 121644718 121644718 C T rs368696113 SNTB1 Nonsynonymous SNV R321Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.2 64228 chr19 52216722 52216722 C T rs45580238 HAS1 Synonymous SNV R564R 0.017 0.013 0.01 10 20 5 0.026 3 0 0 0 0 12.48 64229 chr19 52220435 52220435 C T rs61736495 HAS1 Synonymous SNV S237S 0.019 0.016 0.014 10 22 6 0.026 4 0 0 0 0 13.13 64230 chr8 122626868 122626868 C T rs35989566 HAS2 Synonymous SNV A380A 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 11.63 64231 chr9 130511522 130511522 G A rs201301256 SH2D3C Synonymous SNV D211D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.356 64232 chr7 87816004 87816004 G A rs201928330 ADAM22 Nonsynonymous SNV G848E 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 15.51 64233 chr9 113148239 113148239 G A rs10817003 SVEP1 Synonymous SNV G3392G 0.055 0.081 0.034 28 64 31 0.072 10 2 2 0 0 11.15 64234 chr20 57768607 57768607 G C rs181984 ZNF831 Nonsynonymous SNV G845R 0.036 0.021 0.061 13 42 8 0.033 18 0 1 0 0 0.117 64235 chr9 130653157 130653157 C T rs138204383 ST6GALNAC6 Nonsynonymous SNV V121I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 64236 chr20 37168469 37168469 G T rs6070521 RALGAPB Synonymous SNV V810V 0.032 0.039 0.034 21 37 15 0.054 10 0 0 0 1 10.53 64237 chr9 113169775 113169775 T C rs111245230 SVEP1 Nonsynonymous SNV D2702G 0.05 0.086 0.037 27 59 33 0.069 11 2 2 0 0 24.1 64238 chr8 22067022 22067022 C A rs77242743 BMP1 Synonymous SNV G880G 0.089 0.083 0.048 30 105 32 0.077 14 6 2 0 1 Benign 19.27 64239 chr20 37612384 37612384 G A DHX35 Nonsynonymous SNV G73R 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 29.6 64240 chr19 52538278 52538278 A C rs6509616 ZNF432 Synonymous SNV S218S 0.027 0.029 0.031 4 32 11 0.01 9 0 1 0 0 0.025 64241 chr19 52568422 52568422 T G rs61743893 ZNF841 Nonsynonymous SNV T789P 0.032 0.029 0.031 7 38 11 0.018 9 0 1 0 0 14.19 64242 chr19 52569465 52569465 G A rs771279769 ZNF841 Nonsynonymous SNV S441L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.28 64243 chr8 95448744 95448744 C G FSBP Nonsynonymous SNV R118T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 64244 chr20 40079655 40079655 G C rs41278126 CHD6 Nonsynonymous SNV A1205G 0.032 0.016 0.02 17 37 6 0.044 6 1 0 0 0 21.7 64245 chr9 131261359 131261359 G A rs144521735 ODF2 Nonsynonymous SNV S796N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 31 64246 chr9 114184259 114184259 G C rs16916091 ECPAS Nonsynonymous SNV T466S 0.031 0.031 0.051 21 36 12 0.054 15 0 0 0 0 12.67 64247 chr8 125711789 125711789 A G rs140625723 MTSS1 Synonymous SNV A62A 0.008 0.008 0.014 4 9 3 0.01 4 0 0 0 0 8.992 64248 chr20 43034783 43034783 C T rs736823 HNF4A Synonymous SNV A67A 0.022 0.044 0.02 6 26 17 0.015 6 1 0 0 0 Benign/Likely benign 13.9 64249 chr9 114190337 114190337 G A rs16916100 ECPAS Synonymous SNV F345F 0.047 0.044 0.071 33 55 17 0.085 21 0 0 0 2 10.43 64250 chr20 60904915 60904915 C T rs371144423 LAMA5 Nonsynonymous SNV C1346Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.9 64251 chr9 114195587 114195587 G A rs2297530 ECPAS Synonymous SNV H258H 0.047 0.044 0.071 34 55 17 0.087 21 0 0 0 2 1.025 64252 chr7 91503914 91503914 G A rs144315661 MTERF1 Nonsynonymous SNV T45I 0.016 0.023 0.007 5 19 9 0.013 2 0 0 0 0 0.127 64253 chr21 43274690 43274690 C T rs150432488 PRDM15 Nonsynonymous SNV G212S 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 10.24 64254 chr8 99162823 99162823 G C rs142987843 POP1 Synonymous SNV L671L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 10.83 64255 chr20 43803606 43803606 G A rs41282752 PI3 Nonsynonymous SNV A15T 0.026 0.049 0.017 8 30 19 0.021 5 0 1 0 0 8.523 64256 chr9 100616781 100616781 C T rs537210706 FOXE1 Synonymous SNV A195A 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 18.49 64257 chr7 92733975 92733975 G A rs78564070 SAMD9 Nonsynonymous SNV T479M 0.034 0.052 0.037 17 40 20 0.044 11 0 0 0 1 3.945 64258 chr7 92734051 92734051 C T rs117649834 SAMD9 Nonsynonymous SNV A454T 0.034 0.052 0.037 17 40 20 0.044 11 0 0 0 1 0.006 64259 chr19 18727860 18727860 C T TMEM59L Synonymous SNV R204R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 64260 chr9 100961731 100961731 G A rs201119281 TBC1D2 Nonsynonymous SNV R447W 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 24.5 64261 chr8 133036842 133036842 G A rs61753621 OC90 Synonymous SNV S440S 0.026 0.021 0.027 7 30 8 0.018 8 0 0 0 0 9.939 64262 chr20 61444484 61444484 G T OGFR Nonsynonymous SNV G506V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 64263 chr19 53116643 53116643 T C rs11545619 ZNF83 Nonsynonymous SNV H392R 0.074 0.107 0.071 30 87 41 0.077 21 8 2 1 0 0.048 64264 chr9 132630544 132630544 G A rs35868738 USP20 Synonymous SNV A317A 0.01 0.01 0.007 0 12 4 0 2 0 0 0 0 8 64265 chr19 19260102 19260102 C T rs371035718 BORCS8-MEF2B, MEF2B Nonsynonymous SNV R64H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 64266 chr8 24350065 24350065 G T rs200911914 ADAM7 Nonsynonymous SNV G537V 0.009 0.008 0 0 10 3 0 0 0 0 0 0 26.3 64267 chr19 19345802 19345802 C T rs2228600 NCAN Synonymous SNV D1049D 0.051 0.039 0.027 9 60 15 0.023 8 3 2 0 1 14.1 64268 chr9 117051216 117051216 T A rs1027203347 COL27A1 Nonsynonymous SNV L1374H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 22.7 64269 chr9 132838016 132838016 C T rs73539696 GPR107 Synonymous SNV D81D 0.071 0.099 0.095 25 83 38 0.064 28 2 0 1 2 9.137 64270 chr8 24813594 24813594 G C NEFL Nonsynonymous SNV L146V 0.005 0.008 0 0 6 3 0 0 0 0 0 0 14.31 64271 chr9 133760592 133760592 C T rs2229067 ABL1 Nonsynonymous SNV S972L 0.036 0.044 0.034 9 42 17 0.023 10 1 0 0 0 not provided 13.44 64272 chr9 101798485 101798485 A C rs139815955 COL15A1 Nonsynonymous SNV K775Q 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 18.02 64273 chr21 44324329 44324329 G A rs61746238 NDUFV3 Nonsynonymous SNV E403K 0.018 0.026 0.01 11 21 10 0.028 3 0 1 0 0 0.208 64274 chr20 44511927 44511927 C G rs765511705 ZSWIM1 Nonsynonymous SNV H232Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 17.2 64275 chr19 20117453 20117453 T C ZNF682 Synonymous SNV T254T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.282 64276 chr9 133799182 133799182 C T rs114210057 FIBCD1 Synonymous SNV P266P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.6 64277 chr19 53553651 53553651 G A rs370885226 ERVV-2 Nonsynonymous SNV D383N 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 14.6 64278 chr7 97920433 97920433 C T rs145484995 BRI3 Synonymous SNV L86L 0.006 0.016 0 2 7 6 0.005 0 0 0 0 0 9.896 64279 chr19 53553712 53553712 A G rs377417317 ERVV-2 Nonsynonymous SNV N403S 0.011 0.01 0.007 0 13 4 0 2 0 0 0 0 6.823 64280 chr7 98609113 98609113 G A rs55637395 TRRAP Synonymous SNV A3721A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 8.8 64281 chr7 99032559 99032559 G A rs150504114 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R103C 0.016 0.01 0.003 10 19 4 0.026 1 0 0 0 0 Benign 28 64282 chr8 26721990 26721990 C T rs56233953 ADRA1A Nonsynonymous SNV R166K 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 12.71 64283 chr7 99720515 99720515 T C rs764020432 CNPY4 Nonsynonymous SNV Y151H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.06 64284 chr9 134151559 134151559 C A rs760208083 FAM78A Nonsynonymous SNV G3V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.53 64285 chr9 1057204 1057204 A G rs4741029 DMRT2 Synonymous SNV E365E 0.089 0.099 0.105 22 104 38 0.056 31 3 4 2 3 0.044 64286 chr8 139163744 139163744 A T rs374106478 FAM135B Nonsynonymous SNV S992T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.651 64287 chr19 2413775 2413775 C T rs10153477 TMPRSS9 Synonymous SNV I410I 0.01 0.018 0.044 10 12 7 0.026 13 0 0 1 0 8.59 64288 chr9 107298481 107298481 T C rs768300926 OR13C3 Nonsynonymous SNV N205S 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 19.71 64289 chr19 2413911 2413911 G A rs10153474 TMPRSS9 Nonsynonymous SNV A456T 0.01 0.018 0.044 10 12 7 0.026 13 0 0 1 0 0.661 64290 chr19 2416796 2416796 A G rs45546534 TMPRSS9 Nonsynonymous SNV Q635R 0.011 0.023 0.044 11 13 9 0.028 13 0 0 1 0 3.507 64291 chr9 123163053 123163053 G A rs3739822 CDK5RAP2 Synonymous SNV P1576P 0.037 0.034 0.027 8 43 13 0.021 8 1 1 0 0 Benign/Likely benign 9.402 64292 chr9 134357894 134357894 C T rs573289081 PRRC2B Nonsynonymous SNV A1707V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 64293 chr8 101719121 101719121 G A rs79986761 PABPC1 Nonsynonymous SNV R481C 0.013 0.018 0.02 8 15 7 0.021 6 0 0 0 0 27.6 64294 chr9 123182202 123182202 C T rs6478475 CDK5RAP2 Synonymous SNV L1117L 0.034 0.031 0.031 8 40 12 0.021 9 1 1 0 0 Benign/Likely benign 9.201 64295 chr9 123205912 123205912 C G rs3780679 CDK5RAP2 Nonsynonymous SNV R815T 0.034 0.031 0.031 8 40 12 0.021 9 1 1 0 0 Benign/Likely benign 3.095 64296 chr9 123205981 123205981 C T rs34523498 CDK5RAP2 Nonsynonymous SNV G792E 0.034 0.031 0.027 8 40 12 0.021 8 1 1 0 0 Benign 23.2 64297 chr19 2917528 2917528 G A rs138103869 ZNF57 Synonymous SNV T271T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.58 64298 chr8 103357685 103357685 A T rs149428571 UBR5 Synonymous SNV I275I 0.004 0.013 0.017 2 5 5 0.005 5 1 0 0 0 6.384 64299 chr9 135042352 135042352 G A rs56128215 NTNG2 Nonsynonymous SNV R45H 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 Benign 25.2 64300 chr8 30702991 30702991 A G rs1362912 TEX15 Synonymous SNV D1564D 0.044 0.034 0.041 12 52 13 0.031 12 2 0 1 0 1.709 64301 chr8 142202847 142202847 G A rs28446884 DENND3 Nonsynonymous SNV A1241T 0.071 0.057 0.109 28 83 22 0.072 32 3 1 1 1 1.054 64302 chr9 123912733 123912733 A G rs371707228 CNTRL Nonsynonymous SNV H760R 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 23.5 64303 chr8 30717575 30717575 - A rs565854014 TEX15 0.039 0.029 0.031 10 46 11 0.026 9 2 0 0 0 64304 chr20 62669512 62669512 - GGGACGGCG C20orf204 R84_P85insRGR 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 64305 chr8 142228349 142228349 G T SLC45A4 Synonymous SNV R413R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.196 64306 chr8 30732494 30732494 C A rs929917 TEX15 Synonymous SNV L87L 0.044 0.034 0.041 12 52 13 0.031 12 2 0 1 0 15.75 64307 chr8 3076880 3076880 G A rs775580199 CSMD1 Synonymous SNV G1523G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.288 64308 chr9 111881888 111881888 C T rs754403354 TMEM245 Synonymous SNV T102T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 18.23 64309 chr20 50140627 50140627 G C rs3746420 NFATC2 Synonymous SNV V31V 0.094 0.076 0.078 38 110 29 0.097 23 6 0 0 2 6.74 64310 chr19 31770213 31770213 G A rs61742321 TSHZ3 Synonymous SNV S162S 0.038 0.026 0.031 12 45 10 0.031 9 1 0 0 0 8.392 64311 chr19 3179310 3179310 G A rs147876709 S1PR4 Nonsynonymous SNV A174T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 64312 chr8 143745949 143745949 C T rs147803227 JRK Synonymous SNV A509A 0.006 0.005 0.017 7 7 2 0.018 5 0 0 0 0 Benign 5.221 64313 chr20 51870213 51870213 T C rs201372486 TSHZ2 Synonymous SNV S69S 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.019 64314 chr8 10467589 10467589 - CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC RP1L1 E1339_E1340insGTKTEEGLQEEGVQLEGTKTEEGLQEEGVQLE 0.009 0.003 0 2 10 1 0.005 0 1 0 0 0 64315 chr8 10467652 10467652 - CAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC rs750925370 RP1L1 Frameshift insertion A1319Gfs*17 0.039 0.06 0.024 20 46 23 0.051 7 1 1 0 0 64316 chr21 19629088 19629088 C T rs148388759 CHODL Synonymous SNV A95A 0.003 0.005 0 6 3 2 0.015 0 0 0 0 0 14.68 64317 chr9 125330379 125330379 G A rs539296060 OR1L8 Synonymous SNV A126A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 15.78 64318 chr21 28210030 28210030 A G rs3183693 ADAMTS1 Synonymous SNV C924C 0.003 0.016 0.014 3 4 6 0.008 4 0 1 0 0 3.445 64319 chr19 55420771 55420771 T A rs147784405 NCR1 Nonsynonymous SNV F80I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.3 64320 chr8 10755654 10755654 G A rs142109502 XKR6 Synonymous SNV Y578Y 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 0.105 64321 chr9 125486542 125486542 A G rs143746640 OR1L4 Nonsynonymous SNV I92V 0.042 0.042 0.041 9 49 16 0.023 12 0 0 0 0 0.001 64322 chr8 38871509 38871509 G A rs146980702 ADAM9 Nonsynonymous SNV V94I 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 64323 chr9 136338632 136338632 T C rs782595298 SLC2A6 Nonsynonymous SNV E376G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.536 64324 chr9 125512424 125512424 G A rs745782960 OR1L6 Nonsynonymous SNV A100T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.068 64325 chr9 125512425 125512425 C T rs771790798 OR1L6 Nonsynonymous SNV A100V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.42 64326 chr9 125512441 125512441 T C rs545225625 OR1L6 Synonymous SNV F105F 0.013 0.021 0.003 0 15 8 0 1 1 1 0 0 0.65 64327 chr21 31587963 31587963 G A rs61743791 CLDN8 Nonsynonymous SNV A94V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 27.6 64328 chr8 144652486 144652486 T A MROH6 Nonsynonymous SNV M324L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 64329 chr19 55672513 55672513 C T rs200775946 DNAAF3 Nonsynonymous SNV A346T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 64330 chr19 55711704 55711704 C T rs142951925 PTPRH Synonymous SNV V262V 0.009 0.005 0 0 11 2 0 0 0 0 0 0 4.485 64331 chr9 125621155 125621155 A G rs754000071 RC3H2 Synonymous SNV A692A 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 6.696 64332 chr9 136918402 136918402 G T rs140746159 BRD3 Synonymous SNV I66I 0 0.005 0 0 0 2 0 0 0 0 0 0 2.085 64333 chr21 31874240 31874240 T C rs117415039 KRTAP19-5 Nonsynonymous SNV S57G 0.006 0.013 0.014 3 7 5 0.008 4 0 0 0 0 1.675 64334 chr20 57244409 57244409 G T rs138647604 STX16 Nonsynonymous SNV E148D 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.2 64335 chr21 31874241 31874241 G T rs150340950 KRTAP19-5 Synonymous SNV R56R 0.006 0.013 0.014 3 7 5 0.008 4 0 0 0 0 1.41 64336 chr9 138395624 138395624 C T rs34149047 MRPS2 Nonsynonymous SNV A179V 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 25 64337 chr8 53062412 53062412 T C rs16917324 ST18 Synonymous SNV P644P 0.037 0.031 0.014 10 43 12 0.026 4 1 0 0 0 5.049 64338 chr8 144803531 144803531 G A rs34115313 MAPK15 Nonsynonymous SNV G385D 0.026 0.016 0.014 15 31 6 0.038 4 1 0 0 0 0.005 64339 chr9 116854836 116854836 C T rs376000496 KIF12 Synonymous SNV K423K 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 14.94 64340 chr9 126219706 126219706 A G rs3829851 DENND1A Synonymous SNV D337D 0.039 0.047 0.034 13 46 18 0.033 10 1 0 1 0 9.961 64341 chr21 47987412 47987412 G A rs146953731 DIP2A Synonymous SNV V1527V 0.02 0.026 0.048 3 23 10 0.008 14 0 0 1 0 Benign 8.867 64342 chr21 33887491 33887491 G A rs564813412 EVA1C Synonymous SNV Q332Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 6.09 64343 chr8 61765419 61765419 G A rs6999971 CHD7 Synonymous SNV P2045P 0.047 0.039 0.061 14 55 15 0.036 18 0 0 1 0 Benign/Likely benign 11.54 64344 chr19 35898796 35898796 - C rs112270905 LINC01531 0 0 0.092 0 0 0 0 27 0 0 1 0 64345 chr22 17601199 17601199 G A rs150392725 TMEM121B Synonymous SNV P273P 0.004 0.008 0.01 4 5 3 0.01 3 0 0 0 0 2.157 64346 chr19 35898899 35898899 A G rs16970294 LINC01531 0 0 0.092 0 0 0 0 27 0 0 1 0 0.254 64347 chr19 56297019 56297019 G A rs11671248 NLRP11 Nonsynonymous SNV S926L 0.03 0.021 0.031 7 35 8 0.018 9 2 0 1 1 Benign 13.63 64348 chr19 36050866 36050866 G A rs147230647 ATP4A Synonymous SNV I299I 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 5.812 64349 chr21 35821823 35821823 C G KCNE1, KCNE1B Nonsynonymous SNV S37T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.002 64350 chr22 19163685 19163685 A G rs144180074 SLC25A1 Synonymous SNV D305D 0.011 0.005 0.01 8 13 2 0.021 3 0 0 0 0 Benign 3.386 64351 chr9 139351941 139351941 C T rs114480732 SEC16A Synonymous SNV T1835T 0.006 0.005 0.003 6 7 2 0.015 1 0 0 0 0 14.37 64352 chr8 124382158 124382158 - TCA rs113064839 ATAD2 D277_E278insD 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 64353 chr19 36218397 36218397 G A rs374868218 KMT2B Synonymous SNV P1392P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.037 64354 chr9 117793893 117793893 G A TNC Synonymous SNV A1953A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 64355 chr9 130616621 130616621 G A rs35400405 ENG Nonsynonymous SNV T5M 0.024 0.023 0.01 9 28 9 0.023 3 2 0 0 0 Benign/Likely benign 3.86 64356 chr8 69002816 69002816 A T rs61738008 PREX2 Nonsynonymous SNV T706S 0.013 0.01 0.003 4 15 4 0.01 1 0 0 0 0 21.6 64357 chr8 69033212 69033212 A G rs61753702 PREX2 Nonsynonymous SNV I1218V 0.015 0.01 0.01 4 18 4 0.01 3 0 0 0 0 12.51 64358 chr8 71646275 71646275 A T rs72667746 XKR9 Synonymous SNV A246A 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 0.125 64359 chr9 139686410 139686410 G T rs200899903 TMEM141 Nonsynonymous SNV A45S 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 14.8 64360 chr8 125569956 125569956 C A rs200181819 MTSS1 Nonsynonymous SNV G398V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 64361 chr8 128751201 128751201 G A rs2070582 MYC Synonymous SNV P245P 0.037 0.034 0.031 11 44 13 0.028 9 2 0 0 1 11.35 64362 chr19 37117733 37117733 A G rs142141543 ZNF382 Nonsynonymous SNV I311V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 64363 chr9 139925383 139925383 C T rs61730153 FUT7 Nonsynonymous SNV A270T 0.019 0.016 0.017 5 22 6 0.013 5 0 0 0 0 11.48 64364 chr8 145154257 145154257 C G rs11541804 SHARPIN Nonsynonymous SNV S282T 0.059 0.047 0.048 19 69 18 0.049 14 1 0 0 0 23.2 64365 chr9 140109141 140109141 C T rs117332028 NDOR1 Nonsynonymous SNV P247L 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 25.6 64366 chr9 140123535 140123535 C G rs80009402 RNF224 Synonymous SNV V156V 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 9.965 64367 chr9 140128577 140128577 G C rs34664302 SLC34A3 Synonymous SNV A314A 0.012 0.029 0 9 14 11 0.023 0 0 0 0 0 5.972 64368 chr8 145541635 145541635 T C rs146196839 DGAT1 Nonsynonymous SNV N266S 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 Uncertain significance 25.8 64369 chr9 140139184 140139184 A G rs4073074 FAM166A Synonymous SNV Y219Y 0.026 0.042 0.041 18 31 16 0.046 12 0 0 0 0 2.495 64370 chr9 132637709 132637709 C T rs200207618 USP20 Synonymous SNV F723F 0.014 0.016 0.007 2 17 6 0.005 2 1 0 0 0 11.89 64371 chr9 140147161 140147161 C T rs367914828 STPG3 Synonymous SNV P180P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.6 64372 chr19 3753842 3753842 C T rs376259600 APBA3 Nonsynonymous SNV R311Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 64373 chr21 43547165 43547165 G A rs80040922 UMODL1 Nonsynonymous SNV E1171K 0.027 0.029 0.01 4 32 11 0.01 3 0 1 0 0 25.9 64374 chr8 89130990 89130990 G A rs372051366 MMP16 Synonymous SNV Y270Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.325 64375 chr8 90785005 90785005 C A rs35004667 RIPK2 Nonsynonymous SNV L268I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 64376 chr22 24717413 24717413 C A rs1009778712 SPECC1L Synonymous SNV R155R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 64377 chr9 140865971 140865971 C T rs78326958 CACNA1B Synonymous SNV C490C 0.013 0.016 0.003 3 15 6 0.008 1 1 0 0 0 11.34 64378 chr20 62658490 62658490 G A rs755425584 PRPF6 Synonymous SNV A728A 0.015 0.003 0 8 18 1 0.021 0 1 0 0 0 6.993 64379 chr8 146029544 146029544 A G rs764439870 ZNF517 Synonymous SNV L58L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.281 64380 chr9 140918181 140918181 A G rs11137342 CACNA1B Nonsynonymous SNV T996A 0.016 0.016 0.003 4 19 6 0.01 1 1 0 0 0 Benign 0.002 64381 chr20 62839710 62839710 G C rs61746505 MYT1 Synonymous SNV L387L 0.058 0.047 0.078 31 68 18 0.079 23 2 1 2 3 1.644 64382 chr9 140972590 140972590 C T rs201534051 CACNA1B Synonymous SNV H1658H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 64383 chr19 38865577 38865577 C T rs999785032 PSMD8 Synonymous SNV C112C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 64384 chr21 15561623 15561623 C T rs11909217 LIPI Nonsynonymous SNV C55Y 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 Uncertain significance 27.3 64385 chr21 15954553 15954553 T C rs375632704 SAMSN1 Synonymous SNV Q55Q 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 7.706 64386 chr19 39389033 39389033 C T SIRT2 Nonsynonymous SNV V17M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 64387 chr19 39397904 39397904 G A rs147785336 NFKBIB Synonymous SNV E135E 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 8.706 64388 chr21 45560145 45560145 G A rs17264865 GATD3A, GATD3B Nonsynonymous SNV V62M 0.017 0.013 0.007 4 20 5 0.01 2 0 0 0 0 25.1 64389 chr9 129143387 129143387 C T rs372034264 MVB12B Synonymous SNV D83D 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 17.13 64390 chr9 15723664 15723664 A G rs192857827 CCDC171 Nonsynonymous SNV M479V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.478 64391 chr8 17447095 17447095 C A rs147541353 PDGFRL Synonymous SNV A58A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.89 64392 chr9 16437479 16437479 C T rs188643589 BNC2 Nonsynonymous SNV R196Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 64393 chr19 39899177 39899177 T C rs17885410 ZFP36 Synonymous SNV S273S 0.037 0.039 0.044 8 43 15 0.021 13 1 0 0 1 0.002 64394 chr19 39911451 39911451 C G rs34975345 PLEKHG2 Nonsynonymous SNV P394R 0.023 0.018 0.037 14 27 7 0.036 11 1 0 0 0 26.4 64395 chr8 142266731 142266731 G A rs761364199 LOC105375787 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.609 64396 chr19 39914002 39914002 G A rs111487768 PLEKHG2 Nonsynonymous SNV A711T 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 Likely benign 33 64397 chr8 143396417 143396417 G A rs148208760 TSNARE1 Nonsynonymous SNV R121W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 64398 chr21 46058034 46058034 G A rs142158982 KRTAP10-10 Nonsynonymous SNV V234M 0.028 0.021 0.003 6 33 8 0.015 1 0 0 0 0 0.223 64399 chr8 17824641 17824641 A G rs200319059 PCM1 Nonsynonymous SNV N1125S 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Likely benign 9.421 64400 chr22 29706919 29706919 G A rs61737777 GAS2L1 Nonsynonymous SNV R314Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 64401 chr8 143833840 143833840 C G rs78400087 LYPD2 Synonymous SNV A10A 0.023 0.018 0.01 5 27 7 0.013 3 2 0 0 0 9.304 64402 chr8 143857096 143857096 G A rs34798388 LYNX1, LYNX1-SLURP2 Synonymous SNV C23C 0.011 0.003 0.02 5 13 1 0.013 6 0 0 0 0 7.315 64403 chr9 19332162 19332162 G C rs919577437 DENND4C Nonsynonymous SNV D814H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.5 64404 chr9 136221752 136221752 G C rs116779216 SURF1 Nonsynonymous SNV A56G 0.006 0 0.007 6 7 0 0.015 2 0 0 0 0 Benign 3.413 64405 chr19 4037629 4037629 A G rs112334040 PIAS4 Nonsynonymous SNV N430S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 64406 chr19 40541066 40541066 C T rs61730564 ZNF780B Nonsynonymous SNV R567H 0.015 0.005 0.007 2 18 2 0.005 2 0 0 0 0 18.95 64407 chr9 21974795 21974818 GGCTCCATGCTGCTCCCCGCCGCC - rs751570838 CDKN2A A4_P11del 0 0.003 0 0 0 1 0 0 0 0 0 0 64408 chr9 22451229 22451229 G T rs34324424 DMRTA1 Synonymous SNV L278L 0.014 0.005 0.014 3 16 2 0.008 4 0 0 0 0 0.141 64409 chr8 144522457 144522457 G A rs36083358 ZC3H3 Nonsynonymous SNV P857S 0.016 0.013 0.01 3 19 5 0.008 3 1 1 0 0 5.614 64410 chr21 32492757 32492757 C T rs146645440 TIAM1 Nonsynonymous SNV A602T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 2.672 64411 chr20 1286057 1286057 G T rs150050410 SNPH Nonsynonymous SNV G282C 0.015 0.026 0.017 3 18 10 0.008 5 0 0 0 0 12.1 64412 chr9 26984324 26984324 G A rs202120896 IFT74 Synonymous SNV E125E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.94 64413 chr9 136918426 136918426 G A rs138440778 BRD3 Synonymous SNV P58P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 4.456 64414 chr21 47686037 47686037 A C rs144904756 MCM3AP Nonsynonymous SNV L945V 0.024 0.026 0.02 13 28 10 0.033 6 0 1 0 0 Benign 0.051 64415 chr21 34109582 34109582 C T rs143382738 PAXBP1 Synonymous SNV V873V 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 13.56 64416 chr20 1551564 1551564 T C rs41297640 SIRPB1 Nonsynonymous SNV D324G 0.01 0.018 0.007 6 12 7 0.015 2 0 0 0 0 13.02 64417 chr22 31090052 31090052 - CAGACAGGT rs532801857 OSBP2 Q4_R5insVRQ 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 64418 chr22 31090244 31090244 G C rs79925406 OSBP2 Nonsynonymous SNV R21P 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 13.92 64419 chr22 31090971 31090971 G C rs182152986 OSBP2 Synonymous SNV T25T 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 Benign 15.28 64420 chr20 1592120 1592120 G T rs1135201 SIRPB1 Nonsynonymous SNV R106S 0.025 0.016 0.01 4 29 6 0.01 3 7 2 0 1 1.245 64421 chr20 1592139 1592139 G T rs149722469 SIRPB1 Nonsynonymous SNV N99K 0.036 0.013 0.034 8 42 5 0.021 10 12 1 1 3 21.8 64422 chr20 1592141 1592141 T C rs141518677 SIRPB1 Nonsynonymous SNV N99D 0.038 0.026 0.041 9 45 10 0.023 12 12 2 0 3 0.143 64423 chr9 32550912 32550912 G A rs112527210 TOPORS Nonsynonymous SNV P20S 0.009 0.01 0.027 4 11 4 0.01 8 0 0 0 0 Benign 8.857 64424 chr8 22570904 22570904 C T rs61732772 PEBP4 Synonymous SNV Q221Q 0.007 0.013 0.014 9 8 5 0.023 4 0 0 0 0 3.759 64425 chr8 22570905 22570905 T G rs79936857 PEBP4 Nonsynonymous SNV Q221P 0.009 0.016 0.017 9 11 6 0.023 5 0 0 0 0 10.46 64426 chr9 138709897 138709897 G A rs41309387 CAMSAP1 Synonymous SNV G1399G 0.014 0.023 0.014 3 17 9 0.008 4 0 0 0 0 Benign 9.576 64427 chr9 113141772 113141772 G A rs200790939 SVEP1 Synonymous SNV H3421H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.544 64428 chr9 132982006 132982006 C T rs142005773 NCS1 Synonymous SNV D59D 0.01 0.01 0.014 7 12 4 0.018 4 1 0 0 0 6.131 64429 chr8 144942343 144942343 G A rs112235569 EPPK1 Synonymous SNV P1693P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.88 64430 chr8 23059322 23059322 C T rs146469828 TNFRSF10A Nonsynonymous SNV G210R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 64431 chr9 34379084 34379084 C T rs149463848 C9orf24 Nonsynonymous SNV R109H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.364 64432 chr9 139686761 139686761 C T rs149076749 TMEM141 Synonymous SNV N88N 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 10.84 64433 chr9 34648418 34648418 C T rs2070075 GALT Synonymous SNV L109L 0.048 0.049 0.068 17 56 19 0.044 20 2 0 0 0 Benign, other 10.4 64434 chr9 34658593 34658593 A G rs140455675 IL11RA Synonymous SNV T241T 0.008 0.01 0.014 2 9 4 0.005 4 0 0 0 0 Benign 5.209 64435 chr9 34661980 34661980 C T rs34352067 CCL27 Synonymous SNV L100L 0.048 0.049 0.071 17 56 19 0.044 21 2 0 0 0 5.639 64436 chr9 35044205 35044205 C T rs147472233 C9orf131 Nonsynonymous SNV P492S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.041 64437 chr8 145163621 145163621 A G rs72695434 WDR97 Nonsynonymous SNV S218G 0.035 0.042 0.031 10 41 16 0.026 9 0 0 0 0 0.001 64438 chr22 36698665 36698665 G A rs113285582 MYH9 Synonymous SNV C816C 0.008 0.01 0 5 9 4 0.013 0 0 0 0 0 Benign/Likely benign 15.45 64439 chr9 35811228 35811228 T C rs41277075 SPAG8 Nonsynonymous SNV Y272C 0.014 0.005 0.007 7 17 2 0.018 2 0 0 0 0 0.001 64440 chr22 19222211 19222211 C T rs199652160 CLTCL1 Nonsynonymous SNV E330K 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Likely pathogenic 25.9 64441 chr9 139903857 139903857 C T ABCA2 Synonymous SNV L2264L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.184 64442 chr9 116222581 116222581 G A rs141143019 RGS3 Synonymous SNV S15S 0.014 0.01 0 7 16 4 0.018 0 0 0 0 0 1.391 64443 chr21 40630448 40630448 C G rs145883608 BRWD1 Nonsynonymous SNV R679T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 0.303 64444 chr8 145625621 145625621 G A CPSF1 Synonymous SNV S292S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.964 64445 chr20 3268357 3268357 G A C20orf194 Synonymous SNV L803L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.261 64446 chr21 41117438 41117438 T C IGSF5 Star tloss M1? 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.009 64447 chr9 140123496 140123496 T C rs555517023 RNF224 Synonymous SNV C143C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 1.878 64448 chr8 145694975 145694975 G A rs746227255 KIFC2 Nonsynonymous SNV R442H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.88 64449 chr8 145698758 145698758 G A rs201074786 KIFC2 Nonsynonymous SNV G788S 0.012 0.013 0.003 6 14 5 0.015 1 0 0 0 0 7.043 64450 chr8 145737701 145737701 C T rs34666647 RECQL4 Nonsynonymous SNV R1021Q 0.011 0.013 0.01 5 13 5 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 2.375 64451 chr8 2820009 2820009 C T CSMD1 Nonsynonymous SNV G3203S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 64452 chr19 44590009 44590009 A G rs201402981 ZNF284 Synonymous SNV Q126Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.027 64453 chr22 38131395 38131395 G T rs41283241 TRIOBP Synonymous SNV T1684T 0.016 0.021 0.014 7 19 8 0.018 4 0 0 0 1 Benign/Likely benign 6.852 64454 chr21 43412741 43412741 C T rs79977760 ZBTB21 Synonymous SNV A488A 0.015 0.005 0.003 12 18 2 0.031 1 0 0 0 0 7.036 64455 chr9 6984172 6984172 G A rs10815499 KDM4C Synonymous SNV Q193Q 0.02 0.013 0.027 14 24 5 0.036 8 0 0 0 1 4.721 64456 chr9 7013909 7013909 A G rs35389625 KDM4C Nonsynonymous SNV N442S 0.021 0.013 0.02 13 25 5 0.033 6 0 0 0 1 9.499 64457 chr9 14759892 14759892 G T rs138267253 FREM1 Nonsynonymous SNV L274M 0.011 0.005 0 4 13 2 0.01 0 0 0 0 0 Benign/Likely benign 13.12 64458 chr9 136522274 136522274 C T rs6271 DBH Nonsynonymous SNV R549C 0.062 0.044 0.071 24 73 17 0.062 21 2 0 0 0 Likely benign 23.5 64459 chr9 123932018 123932018 A G rs34633370 CNTRL Nonsynonymous SNV K1515R 0.009 0.003 0.007 6 11 1 0.015 2 0 0 0 0 Likely benign 20.3 64460 chr9 124048461 124048461 T C rs12343736 GSN Nonsynonymous SNV W14R 0.021 0.01 0.017 11 25 4 0.028 5 1 0 0 0 2.013 64461 chr20 5935815 5935815 - T MCM8 Stop gain N136* 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 64462 chr9 124065224 124065224 G A rs2230287 GSN Nonsynonymous SNV A129T 0.02 0.01 0.017 9 24 4 0.023 5 1 0 0 0 Benign 34 64463 chr9 124094800 124094800 T C rs9102 GSN Synonymous SNV F756F 0.014 0.01 0.017 6 17 4 0.015 5 1 0 0 0 Benign 0.995 64464 chr19 45284266 45284266 A C rs35106910 CBLC Nonsynonymous SNV K153T 0.049 0.042 0.065 21 58 16 0.054 19 1 0 0 0 27.4 64465 chr22 41542753 41542753 A G rs61756763 EP300 Synonymous SNV L688L 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 Benign/Likely benign 16.14 64466 chr9 21016009 21016009 G A rs61736077 HACD4 Nonsynonymous SNV L91F 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 23.9 64467 chr22 24217318 24217318 T G rs757716491 SLC2A11 Nonsynonymous SNV L99R 0.007 0.003 0 0 8 1 0 0 0 0 0 0 28 64468 chr9 78808173 78808173 G A rs148131474 PCSK5 Nonsynonymous SNV E883K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.09 64469 chr22 24225971 24225971 G A rs79905160 SLC2A11 Nonsynonymous SNV E333K 0.004 0.013 0.017 2 5 5 0.005 5 0 0 0 0 28.4 64470 chr22 41723239 41723239 C T rs777565169 ZC3H7B Synonymous SNV S105S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.8 64471 chr19 46265222 46265222 C T rs76618306 BHMG1 Nonsynonymous SNV T487M 0.009 0.018 0.003 1 10 7 0.003 1 0 0 0 0 0.893 64472 chr20 13251325 13251325 C T rs76665689 ISM1 Nonsynonymous SNV L105F 0.016 0.016 0 7 19 6 0.018 0 1 0 0 0 23.7 64473 chr21 45547913 45547913 C A rs9978109 LOC102724159, PWP2 Synonymous SNV P747P 0.011 0.013 0.01 8 13 5 0.021 3 0 0 0 0 12.49 64474 chr8 39606900 39606900 C T rs202043487 ADAM2 Nonsynonymous SNV D630N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.109 64475 chr21 45564766 45564766 C G rs2838497 GATD3A, GATD3B Nonsynonymous SNV L217V 0.011 0.013 0.01 8 13 5 0.021 3 0 0 0 0 4.99 64476 chr20 13756669 13756669 T C ESF1 Synonymous SNV K295K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.488 64477 chr19 46388726 46388726 C A IRF2BP1 Nonsynonymous SNV G103C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.724 64478 chr20 16360083 16360083 T C rs201539410 KIF16B Nonsynonymous SNV Q855R 0.014 0.008 0.003 7 16 3 0.018 1 1 0 0 0 0.001 64479 chr8 19263441 19263441 G A rs35971700 CSGALNACT1 Synonymous SNV D483D 0.081 0.089 0.088 30 95 34 0.077 26 5 1 2 0 7.504 64480 chr8 41469750 41469750 G A rs117841352 GPAT4 Synonymous SNV P251P 0.009 0 0 1 11 0 0.003 0 0 0 0 0 6.029 64481 chr19 46733409 46733409 G A rs75105417 IGFL1 Nonsynonymous SNV G24R 0.06 0.076 0.082 32 71 29 0.082 24 6 1 1 1 24 64482 chr21 45978366 45978366 G A rs181734444 KRTAP10-3 Nonsynonymous SNV S78L 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 11.8 64483 chr9 79836205 79836205 A G rs146265794 VPS13A Nonsynonymous SNV Y365C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 27.3 64484 chr9 32542363 32542363 G A rs74328058 TOPORS Synonymous SNV Y655Y 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign/Likely benign 0.067 64485 chr9 32632664 32632664 C A rs55906071 TAF1L Nonsynonymous SNV V972L 0.007 0 0 1 8 0 0.003 0 1 0 0 0 17.47 64486 chr9 8518395 8518395 G A rs3763653 PTPRD Synonymous SNV T322T 0.072 0.076 0.075 27 84 29 0.069 22 5 1 1 1 8.497 64487 chr8 21965274 21965274 C T rs79448203 NUDT18 Nonsynonymous SNV R170H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.9 64488 chr19 4772343 4772343 T C rs3760954 MIR7-3HG 0 0 0.133 0 0 0 0 39 0 0 2 0 0.308 64489 chr9 12821511 12821511 G A rs138837043 LURAP1L Nonsynonymous SNV G147S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 64490 chr19 48024496 48024496 G A ZNF541 Synonymous SNV G1342G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.787 64491 chr19 48032847 48032847 G A ZNF541 Synonymous SNV D1156D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.355 64492 chr9 86900369 86900369 T A rs56350726 SLC28A3 Nonsynonymous SNV Y513F 0.061 0.052 0.034 27 72 20 0.069 10 0 0 0 1 23.6 64493 chr22 28194529 28194529 G A rs201191310 MN1 Nonsynonymous SNV P668L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.08 64494 chr9 86917301 86917301 T C rs10868138 SLC28A3 Nonsynonymous SNV Y113C 0.06 0.044 0.051 30 71 17 0.077 15 2 0 2 2 24.7 64495 chr20 19941419 19941419 C T rs45488002 RIN2 Nonsynonymous SNV P143S 0.013 0.008 0.024 5 15 3 0.013 7 0 0 0 0 Likely benign 3.637 64496 chr22 29195086 29195086 T C rs765182289 XBP1 Nonsynonymous SNV M95V 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 23.5 64497 chr9 88650378 88650378 G A rs149739829 GOLM1 Nonsynonymous SNV S307L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.642 64498 chr9 90219920 90219920 G A rs36207428 DAPK1 Synonymous SNV Q38Q 0.043 0.042 0.058 15 51 16 0.038 17 2 0 0 0 9.591 64499 chr21 46888226 46888226 G A rs779044009 COL18A1 Synonymous SNV T239T 0.003 0.008 0 7 4 3 0.018 0 0 0 0 0 8.198 64500 chr8 61654298 61654298 T A rs41272435 CHD7 Nonsynonymous SNV S103T 0.01 0.01 0.017 6 12 4 0.015 5 0 0 0 0 Benign 19.78 64501 chr9 91652977 91652977 G A rs56005403 SHC3 Synonymous SNV G529G 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 9.894 64502 chr9 91993724 91993724 C T rs45483393 SEMA4D Synonymous SNV T828T 0.035 0.026 0.024 13 41 10 0.033 7 1 0 0 0 13.4 64503 chr20 21362656 21362656 G A rs780184330 XRN2 Nonsynonymous SNV R948Q 0.007 0.003 0 0 8 1 0 0 0 0 0 0 21 64504 chr9 35618053 35618053 C A rs35185125 CD72 Nonsynonymous SNV V50L 0.01 0.01 0.003 10 12 4 0.026 1 0 0 0 0 10.31 64505 chr9 95009749 95009749 G A rs369618278 IARS1 Synonymous SNV L873L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 64506 chr9 35661145 35661145 G A rs377274752 CCDC107 Synonymous SNV T271T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.614 64507 chr8 63161660 63161660 C T rs751886092 NKAIN3 Nonsynonymous SNV L10F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 64508 chr9 35748669 35748669 G A rs34312177 GBA2 Synonymous SNV T11T 0.025 0.021 0.037 10 29 8 0.026 11 0 0 0 0 Benign 10.88 64509 chr9 139753522 139753522 G A rs61745176 MAMDC4 Nonsynonymous SNV G1008R 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 26.3 64510 chr20 23432556 23432556 A G rs747708496 CST11 Nonsynonymous SNV V77A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 21.9 64511 chr19 49102599 49102599 C T rs17842463 SULT2B1 Nonsynonymous SNV P330L 0.011 0.005 0.024 6 13 2 0.015 7 0 0 0 0 21.3 64512 chr9 139903294 139903294 G A rs201625278 ABCA2 Synonymous SNV Y2319Y 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 5.002 64513 chr9 130931421 130931421 G A rs41276236 CIZ1 Synonymous SNV D634D 0.01 0.016 0.017 5 12 6 0.013 5 0 0 0 0 Benign 9.231 64514 chr19 49132541 49132541 A T SPHK2 Synonymous SNV V456V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 64515 chr8 66992704 66992704 C T rs78575551 DNAJC5B Synonymous SNV P142P 0.003 0 0 0 4 0 0 0 0 0 0 0 15.03 64516 chr21 47855949 47855949 G A rs542238990 PCNT Nonsynonymous SNV G2765S 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 0.007 64517 chr9 96080176 96080176 G A rs535240023 WNK2 Nonsynonymous SNV R2254Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.841 64518 chr8 67590023 67590023 G - rs377182380 C8orf44 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 64519 chr9 377066 377066 C T rs12348944 DOCK8 Synonymous SNV S697S 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 Benign 15.96 64520 chr9 97333767 97333767 C G rs775781859 FBP2 Nonsynonymous SNV V182L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 64521 chr20 25261605 25261605 C T rs2228978 PYGB Synonymous SNV P420P 0.009 0.018 0.007 0 10 7 0 2 0 0 0 0 13.36 64522 chr22 31011644 31011644 G A rs61748898 TCN2 Synonymous SNV A270A 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.23 64523 chr20 25657745 25657745 T G rs981441 ZNF337-AS1 0.03 0.013 0.027 10 35 5 0.026 8 5 0 0 0 0.176 64524 chr22 31328671 31328671 C G MORC2 Nonsynonymous SNV E870Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.4 64525 chr20 30354417 30354417 G A rs13044019 TPX2 Synonymous SNV P96P 0.045 0.021 0.058 20 53 8 0.051 17 2 0 0 1 6.122 64526 chr20 30412101 30412101 C T rs41293106 MYLK2 Synonymous SNV A306A 0.022 0.003 0.02 11 26 1 0.028 6 1 0 0 0 Benign 14.37 64527 chrX 100276147 100276147 C T rs56176072 TRMT2B Nonsynonymous SNV G337R 0.019 0.026 0.024 14 22 10 0.036 7 4 1 2 4 8.589 64528 chr22 18609642 18609642 C T rs362203 TUBA8 Synonymous SNV N233N 0.02 0.016 0.02 6 23 6 0.015 6 1 0 0 0 Benign 10.13 64529 chr8 73849950 73849950 G T KCNB2 Nonsynonymous SNV R787M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.68 64530 chr22 31533855 31533855 G A rs151265075 PLA2G3 Stop gain R303X 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 34 64531 chr22 46795689 46795689 G A rs750903620 CELSR1 Synonymous SNV I1779I 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 64532 chr9 132623223 132623223 C T rs772434088 USP20 Nonsynonymous SNV P113L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 64533 chr20 31596430 31596430 T A rs149889663 BPIFB2 Nonsynonymous SNV V17E 0.019 0.008 0.014 8 22 3 0.021 4 0 0 0 0 16.96 64534 chr22 47189678 47189678 C G rs112995262 TBC1D22A Nonsynonymous SNV P115A 0.02 0.01 0 3 24 4 0.008 0 0 0 0 0 0.002 64535 chr8 27528698 27528698 C T rs35928641 SCARA3 Nonsynonymous SNV P551S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 23.3 64536 chr22 31969137 31969137 C T rs76914885 SFI1 Nonsynonymous SNV R205W 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 14.06 64537 chr19 50161091 50161091 A G rs61743199 SCAF1 Nonsynonymous SNV K1231R 0.032 0.021 0.054 13 37 8 0.033 16 0 0 0 0 24.6 64538 chr9 140773612 140773612 - ACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTT CACNA1B 0.072 0.039 0.088 44 85 15 0.113 26 0 0 0 0 64539 chr9 71549847 71549847 G A rs55897616 PIP5K1B Nonsynonymous SNV A415T 0.026 0.031 0.027 12 30 12 0.031 8 1 0 0 0 13.67 64540 chr19 50366987 50366987 G A rs368301643 PNKP Nonsynonymous SNV R259W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 64541 chr9 14737497 14737497 T C rs377147206 FREM1 Nonsynonymous SNV K682R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.65 64542 chr22 20229786 20229786 C T rs938497859 RTN4R Synonymous SNV P290P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.793 64543 chr8 86053753 86053753 G T LRRCC1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 64544 chrX 107381208 107381208 T C rs188786829 ATG4A Nonsynonymous SNV V164A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.74 64545 chr20 31805436 31805436 G C rs181900900 BPIFA3 Nonsynonymous SNV A32P 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 22.9 64546 chr8 29006207 29006207 C A rs200170374 KIF13B Nonsynonymous SNV S567I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 64547 chr19 50412873 50412873 G A rs145084636 NUP62 Synonymous SNV T64T 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.16 64548 chr8 29023260 29023260 C A KIF13B Synonymous SNV R396R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.65 64549 chr20 31894789 31894789 C G rs17856249 BPIFB1 Nonsynonymous SNV T464S 0.024 0.021 0.024 13 28 8 0.033 7 0 0 0 0 3.694 64550 chr9 15307211 15307211 A T rs77031199 TTC39B Synonymous SNV L37L 0.047 0.034 0.02 14 55 13 0.036 6 2 0 0 0 0.011 64551 chr9 74344821 74344821 T C rs25693 CEMIP2 Synonymous SNV S600S 0.058 0.096 0.078 16 68 37 0.041 23 0 0 0 0 2.557 64552 chr9 74345158 74345158 G A rs25694 CEMIP2 Synonymous SNV T532T 0.058 0.096 0.078 16 68 37 0.041 23 0 0 0 0 12.17 64553 chr22 22039199 22039199 C T rs861833 PPIL2 Synonymous SNV N237N 0.188 0.203 0.17 57 221 78 0.146 50 23 7 6 4 16.58 64554 chr9 74349846 74349846 A T rs25695 CEMIP2 Nonsynonymous SNV D423E 0.058 0.096 0.078 16 68 37 0.041 23 0 0 0 0 0.319 64555 chr9 74354983 74354983 A G rs25691 CEMIP2 Synonymous SNV I400I 0.058 0.096 0.078 16 68 37 0.041 23 0 0 0 0 1.672 64556 chr9 74355028 74355028 A G rs25690 CEMIP2 Synonymous SNV T385T 0.058 0.096 0.078 16 68 37 0.041 23 0 0 0 0 2.428 64557 chr9 74360234 74360234 C T rs25688 CEMIP2 Nonsynonymous SNV R245K 0.056 0.091 0.075 14 66 35 0.036 22 0 0 0 0 0.017 64558 chr8 92097062 92097062 G A rs3210518 OTUD6B Nonsynonymous SNV R283Q 0.01 0.008 0.014 8 12 3 0.021 4 0 0 0 0 11.92 64559 chrX 111914244 111914244 A G rs7064462 LHFPL1 Synonymous SNV F125F 0.064 0.073 0.109 30 75 28 0.077 32 19 8 10 9 0.001 64560 chr19 51162367 51162367 G A rs377132289 C19orf81 Nonsynonymous SNV A189T 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 25.8 64561 chrX 112022297 112022297 - AGG rs147791784 AMOT P1028_A1029insP 0.058 0.065 0.092 31 68 25 0.079 27 17 9 8 9 64562 chrX 114424597 114424597 G A rs12009026 RBMXL3 Nonsynonymous SNV R198H 0.089 0.102 0.085 29 104 39 0.074 25 26 13 8 9 13.47 64563 chr19 51228371 51228371 - G rs562569155 CLEC11A Frameshift insertion G209Rfs*94 0 0.003 0.003 0 0 1 0 1 0 0 0 0 64564 chr9 20414311 20414313 CTG - rs747298605 MLLT3 S187del 0.007 0 0 0 8 0 0 0 0 0 0 0 64565 chr19 51321919 51321919 - CAGCCTTCGCAGGCCACACCCTGAAGCCACTCTCCACCCGCT rs3212841 LINC01869 0 0 0.5 0 0 0 0 147 0 0 56 0 64566 chr9 135522272 135522272 T C rs35140383 DDX31 Nonsynonymous SNV T486A 0.018 0.016 0.031 14 21 6 0.036 9 0 0 0 0 1.253 64567 chr22 37273856 37273856 G A rs28669668 NCF4 Synonymous SNV T337T 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 Likely benign 5.723 64568 chr8 38003911 38003911 G A rs34908868 STAR Nonsynonymous SNV R121W 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 64569 chr8 98289238 98289238 T C rs151015596 TSPYL5 Nonsynonymous SNV S279G 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 17.38 64570 chr20 37555322 37555322 - GCG rs534813259 FAM83D A86_E87insA 0.06 0.055 0.068 27 70 21 0.069 20 3 0 0 1 64571 chr22 37447855 37447855 G A rs113687833 KCTD17 Nonsynonymous SNV A26T 0.022 0.042 0.048 14 26 16 0.036 14 1 1 0 0 23.4 64572 chr8 38265755 38265755 C T rs150451779 LETM2 Nonsynonymous SNV T432M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26 64573 chr8 38370154 38370154 A G rs2461325 C8orf86 Synonymous SNV H113H 0.023 0.034 0.01 6 27 13 0.015 3 1 0 0 0 Benign 0.031 64574 chrX 119070328 119070330 GAT - rs10577974 NKAP S202del 0.053 0.07 0 14 62 27 0.036 0 16 9 0 5 64575 chr9 26892654 26892654 G A rs3739548 CAAP1 Synonymous SNV A20A 0.037 0.031 0.02 13 44 12 0.033 6 1 0 1 0 12.33 64576 chr9 26978170 26978170 A G rs10812505 IFT74 Nonsynonymous SNV I55M 0.031 0.026 0.027 10 36 10 0.026 8 0 0 1 0 0.036 64577 chr9 26978259 26978259 A G rs11555693 IFT74 Nonsynonymous SNV K85R 0.037 0.029 0.027 13 43 11 0.033 8 1 0 1 0 14.29 64578 chr19 51840622 51840622 G A rs201032606 VSIG10L Synonymous SNV I725I 0.002 0.008 0.01 7 2 3 0.018 3 0 0 0 0 11.87 64579 chr8 39442827 39442827 C T rs150907859 ADAM18 Nonsynonymous SNV P30S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 23.8 64580 chr22 24761521 24761521 A G rs200511260 SPECC1L Nonsynonymous SNV M35V 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 14.06 64581 chr8 41582031 41582031 G T rs61735313 ANK1 Nonsynonymous SNV N218K 0.013 0.026 0.017 4 15 10 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 29.6 64582 chr22 38211140 38211140 G A rs754662294 GCAT Nonsynonymous SNV R221Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 64583 chr9 79326058 79326058 G C rs185829648 PRUNE2 Nonsynonymous SNV L378V 0.007 0.013 0.007 7 8 5 0.018 2 0 0 0 0 23.7 64584 chr9 80020886 80020886 T C rs34255276 VPS13A Synonymous SNV L3089L 0.035 0.029 0.037 11 41 11 0.028 11 0 1 0 0 Uncertain significance 3.575 64585 chrX 2928170 2928170 C T rs77183343 ARSH Synonymous SNV T64T 0.119 0.112 0.126 55 140 43 0.141 37 38 9 14 15 Benign 8.58 64586 chr9 80262613 80262613 G A rs138686336 GNA14 Nonsynonymous SNV R33C 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 Benign 32 64587 chr22 25581054 25581054 C T rs779266035 KIAA1671 Synonymous SNV R1770R 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 17.34 64588 chr9 103348208 103348208 A T rs28623148 CAVIN4 Synonymous SNV S190S 0.031 0.016 0.037 7 36 6 0.018 11 0 0 0 0 Benign 1.299 64589 chr9 85620347 85620347 T C rs781201987 RASEF Nonsynonymous SNV K366R 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 20.1 64590 chr9 34255988 34255988 A C rs41274039 KIF24 Nonsynonymous SNV L1206R 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 0.061 64591 chr22 38519145 38519145 C T rs1031583350 PLA2G6 Synonymous SNV A462A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 19.04 64592 chr22 39137513 39137513 C T rs139004902 SUN2 Nonsynonymous SNV V399I 0.011 0.023 0.007 3 13 9 0.008 2 0 0 0 0 Benign 21.9 64593 chr9 88650320 88650320 G A rs139831634 GOLM1 Synonymous SNV P326P 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 Benign 10.92 64594 chr9 88651370 88651370 T C rs2297002 GOLM1 Nonsynonymous SNV H217R 0.015 0.018 0.01 8 18 7 0.021 3 1 0 0 0 0.001 64595 chr22 26272244 26272244 C T rs35578357 MYO18B Nonsynonymous SNV S1391F 0.067 0.049 0.044 24 79 19 0.062 13 4 0 0 2 24.6 64596 chrX 13677862 13677862 G A rs5935646 TCEANC Synonymous SNV S19S 0.015 0.021 0 6 18 8 0.015 0 9 4 0 3 6.496 64597 chr22 26422454 26422454 T C rs117270969 MYO18B Synonymous SNV L2173L 0.004 0.005 0.003 6 5 2 0.015 1 0 0 0 0 0.022 64598 chr19 52403516 52403516 T C rs1549931 ZNF649-AS1 0 0 0.412 0 0 0 0 121 0 0 21 0 5.832 64599 chrX 18348756 18348758 CTT - rs746775174 SCML2 K14del 0.008 0.005 0 3 9 2 0.008 0 3 1 0 1 64600 chrX 13803884 13803884 G A rs36050008 GPM6B Synonymous SNV Y16Y 0.013 0.026 0.01 2 15 10 0.005 3 4 2 1 0 9.291 64601 chr8 59508211 59508211 C T rs117413256 NSMAF Synonymous SNV E631E 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 14.15 64602 chrX 138908933 138908933 T C rs577732149 ATP11C Nonsynonymous SNV N29S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 9.181 64603 chr9 91616843 91616843 G A rs34075341 S1PR3 Nonsynonymous SNV R243Q 0.048 0.055 0.041 18 56 21 0.046 12 1 0 0 0 27.2 64604 chrX 139586494 139586494 T G rs45451393 SOX3 Synonymous SNV A244A 0.009 0.005 0.01 6 10 2 0.015 3 2 0 1 2 Benign 0.157 64605 chrX 139586617 139586617 A G rs45586631 SOX3 Synonymous SNV Y203Y 0.009 0.01 0.01 6 10 4 0.015 3 2 1 1 2 Benign 0.215 64606 chr22 41077832 41077832 G A rs190547628 MCHR1 Nonsynonymous SNV R390H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.9 64607 chr22 27012254 27012254 C A CRYBB1 Synonymous SNV S10S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.54 64608 chr9 35906601 35906601 - CCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA HRCT1 H107_R108insHTPHHLHHHHHHHH 0.003 0.005 0 3 4 2 0.008 0 1 0 0 0 64609 chr22 27026325 27026325 G A rs117467748 CRYBA4 Synonymous SNV P155P 0.009 0.013 0 5 11 5 0.013 0 0 0 0 0 Benign 7.6 64610 chr9 107546652 107546652 C T rs144588452 ABCA1 Nonsynonymous SNV V2244I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 14.64 64611 chr22 28559516 28559516 G A rs184677006 TTC28 Synonymous SNV A335A 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 7.752 64612 chr22 29454778 29454778 G A rs2072775 C22orf31 Synonymous SNV H275H 0.026 0.018 0.044 7 31 7 0.018 13 1 0 0 0 0.731 64613 chr22 42307226 42307226 T C rs76140449 SHISA8 Nonsynonymous SNV S220G 0.025 0.034 0.017 34 29 13 0.087 5 0 0 1 1 7.788 64614 chr9 107651444 107651444 T C rs141151519 ABCA1 Synonymous SNV L33L 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.739 64615 chr8 65494020 65494020 - GCAGCA BHLHE22 S234_K235insSS 0.005 0 0 3 6 0 0.008 0 0 0 0 0 64616 chr22 29660142 29660142 G C RHBDD3 Nonsynonymous SNV L72V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 64617 chrX 148568477 148568477 C T rs376725292 IDS Nonsynonymous SNV A387T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.92 64618 chr22 42322716 42322716 G C rs77874543 TNFRSF13C Nonsynonymous SNV P21R 0.008 0.008 0 13 9 3 0.033 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.496 64619 chr8 6668887 6668887 C A rs370198356 XKR5 Nonsynonymous SNV E631D 0.003 0 0.007 5 3 0 0.013 2 0 0 0 0 7.41 64620 chrX 14877404 14877404 C T rs41309679 FANCB Nonsynonymous SNV G335E 0.101 0.091 0.085 33 119 35 0.085 25 27 9 9 9 Benign 24.7 64621 chr9 139369833 139369833 C T rs375445642 SEC16A Synonymous SNV P745P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.38 64622 chr20 48467309 48467309 T G rs73271123 SLC9A8 Nonsynonymous SNV F182C 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 16.15 64623 chr20 48522560 48522560 C T rs138901287 SPATA2 Nonsynonymous SNV G387R 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 25.5 64624 chrX 150817101 150817101 A G rs144905518 PASD1 Nonsynonymous SNV Q215R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.042 64625 chr22 42610344 42610346 TGT - rs552166978 TCF20 Q322del 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 64626 chr9 111665215 111665215 A C rs35054425 ELP1 Synonymous SNV P237P 0.014 0.021 0.017 7 17 8 0.018 5 0 0 0 0 Conflicting interpretations of pathogenicity 0.19 64627 chrX 150912760 150912760 C T rs745437546 CNGA2 Synonymous SNV V595V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 64628 chrX 49104943 49104943 G A rs144632022 CCDC22 Nonsynonymous SNV A430T 0.026 0.034 0.027 2 31 13 0.005 8 8 4 3 1 Benign 25.6 64629 chrX 151337024 151337024 T G GABRA3 Synonymous SNV P385P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.547 64630 chr20 50408377 50408377 G C rs61737139 SALL4 Synonymous SNV L215L 0.028 0.016 0.024 10 33 6 0.026 7 0 0 0 0 Benign 4.694 64631 chr9 112969767 112969767 A C rs774193978 C9orf152 Synonymous SNV P31P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.085 64632 chr22 30977014 30977014 C G rs2108110 PES1 Nonsynonymous SNV E299D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 13.99 64633 chrX 100106259 100106259 C T rs143127702 NOX1 Nonsynonymous SNV R250Q 0.006 0.003 0 2 7 1 0.005 0 1 0 0 0 33 64634 chr22 43575935 43575935 C T rs33970602 TTLL12 Synonymous SNV V206V 0.035 0.065 0.041 15 41 25 0.038 12 2 1 1 0 10.06 64635 chr9 139818416 139818416 G A rs556228371 TRAF2 Synonymous SNV P417P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 64636 chr9 4626449 4626449 C T rs28548276 SPATA6L Nonsynonymous SNV G13R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.407 64637 chr9 113173530 113173530 T C rs138943441 SVEP1 Nonsynonymous SNV N2154S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 64638 chr9 4833154 4833154 G A rs34215378 RCL1 Nonsynonymous SNV V129I 0.007 0.005 0.007 9 8 2 0.023 2 0 0 0 0 23.1 64639 chr19 53517928 53517928 G C rs915693785 ERVV-1 Nonsynonymous SNV R195S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 64640 chr19 53573187 53573187 T G rs77816404 ZNF160 Nonsynonymous SNV K200N 0.012 0.018 0.031 5 14 7 0.013 9 1 0 0 0 1.988 64641 chrX 153050585 153050585 C T rs55812039 SRPK3 Synonymous SNV F491F 0.004 0.013 0.027 0 5 5 0 8 2 1 4 0 15.22 64642 chr20 55027704 55027704 G A rs16979936 CASS4 Nonsynonymous SNV R437K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 5.07 64643 chr20 55033782 55033782 G T rs7272702 CASS4 Nonsynonymous SNV Q343H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11 64644 chr20 55059188 55059188 C T rs58782641 RTF2 Synonymous SNV C140C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.02 64645 chr8 8234140 8234140 G T rs199749191 PRAG1 Synonymous SNV P593P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.089 64646 chr9 114174359 114174359 T C rs61748002 ECPAS Nonsynonymous SNV T717A 0.014 0.005 0.017 3 17 2 0.008 5 0 0 0 0 15.03 64647 chr22 31845471 31845473 AGA - rs754072166 EIF4ENIF1 L369del 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 64648 chr19 53787375 53787375 C T rs111531670 FAM90A27P 0 0 0.109 0 0 0 0 32 0 0 2 0 0.711 64649 chr22 31946296 31946296 A G rs369986616 SFI1 Nonsynonymous SNV Q87R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.354 64650 chrX 106885667 106885667 C T rs61752962 PRPS1 Synonymous SNV I159I 0.012 0.016 0.014 3 14 6 0.008 4 2 2 2 0 Benign 16.39 64651 chrX 153690631 153690631 G A rs141197316 PLXNA3 Nonsynonymous SNV R433H 0.013 0.008 0.003 4 15 3 0.01 1 5 0 0 1 Benign 26.6 64652 chrX 153693126 153693126 C T rs139336954 PLXNA3 Nonsynonymous SNV P653L 0.001 0.008 0.014 2 1 3 0.005 4 0 0 2 1 Benign 28.3 64653 chr19 54228742 54228742 - AAAGA rs10670323 MIR516B2 0 0 0.095 0 0 0 0 28 0 0 2 0 64654 chr19 54245839 54245839 - GT rs111745142 MIR520H 0 0 0.068 0 0 0 0 20 0 0 0 0 64655 chrX 153696759 153696759 C T rs144393472 PLXNA3 Synonymous SNV R1359R 0.001 0.008 0.014 2 1 3 0.005 4 0 0 2 1 Benign 11.07 64656 chr22 32113036 32113036 T C rs147348699 PRR14L Synonymous SNV T263T 0.004 0.003 0.017 7 5 1 0.018 5 0 0 0 0 1.901 64657 chr22 32651262 32651262 A G rs12169024 SLC5A4 Synonymous SNV L19L 0.058 0.073 0.075 31 68 28 0.079 22 2 2 0 1 0.55 64658 chr9 140128923 140128923 C T rs199536442 SLC34A3 Synonymous SNV A383A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.22 64659 chr9 71865988 71865988 C T rs41277907 TJP2 Nonsynonymous SNV S902F 0.118 0.081 0.112 37 139 31 0.095 33 7 1 5 4 Benign 22.9 64660 chr9 114820741 114820741 G A rs2296213 SUSD1 Synonymous SNV C692C 0.022 0.013 0.017 7 26 5 0.018 5 0 0 0 0 9.184 64661 chrX 18824596 18824596 G A rs11796620 PPEF1 Nonsynonymous SNV G381S 0.037 0.039 0.044 16 44 15 0.041 13 9 4 5 5 9.088 64662 chrX 19418700 19418700 G A rs56177884 MAP3K15 Synonymous SNV T642T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 64663 chr22 45218339 45218339 G A rs55849456 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV E159K 0.011 0.018 0.01 6 13 7 0.015 3 0 0 0 0 24.6 64664 chr8 92092954 92092954 T C rs150848976 OTUD6B Nonsynonymous SNV L229P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely pathogenic 31 64665 chrX 119760720 119760720 C T rs149340486 C1GALT1C1 Nonsynonymous SNV S101N 0.004 0.005 0.003 2 5 2 0.005 1 2 0 0 0 Benign 22.2 64666 chr19 54965619 54965619 C G LENG8 Nonsynonymous SNV P146R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 64667 chr20 58476856 58476856 G A rs766701626 SYCP2 Nonsynonymous SNV S348L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 28.4 64668 chr9 116185655 116185655 G A rs148106673 C9orf43 Nonsynonymous SNV R178Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.022 64669 chr19 54967290 54967290 C A LENG8 Synonymous SNV A390A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.4 64670 chr22 37414468 37414468 T G rs35156365 TST Nonsynonymous SNV E102D 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 3.415 64671 chr22 37457648 37457648 G A rs765037421 KCTD17 Nonsynonymous SNV R268H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22 64672 chr22 37770210 37770210 G A rs7292855 ELFN2 Synonymous SNV A455A 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 8.333 64673 chrX 111195610 111195610 C T rs150908311 TRPC5 Synonymous SNV P13P 0.009 0.016 0 2 11 6 0.005 0 3 3 0 0 Benign 14.12 64674 chrX 30686141 30686141 G A rs34795481 GK Synonymous SNV Q55Q 0.095 0.091 0 38 111 35 0.097 0 24 7 0 12 Benign 2.299 64675 chrX 134713861 134713861 C T rs2298302 INTS6L Synonymous SNV D719D 0.007 0.005 0.017 7 8 2 0.018 5 2 0 2 2 7.194 64676 chr22 37966649 37966649 G A rs115686288 LGALS2 Synonymous SNV D61D 0.01 0.01 0.024 7 12 4 0.018 7 0 0 0 0 5.607 64677 chrX 135122262 135122262 C T rs2307131 SLC9A6 Synonymous SNV S585S 0.014 0.018 0.007 6 16 7 0.015 2 3 2 1 2 Benign/Likely benign 14.36 64678 chr22 38026059 38026059 G A rs140112498 GGA1 Nonsynonymous SNV E318K 0.022 0.016 0.027 5 26 6 0.013 8 0 0 0 0 8.238 64679 chr22 38028045 38028045 G A rs143909159 GGA1 Nonsynonymous SNV R437H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 34 64680 chrX 31986607 31986607 G A rs1800273 DMD Nonsynonymous SNV R814W 0.024 0.026 0.034 9 28 10 0.023 10 8 2 4 2 Benign/Likely benign 25.3 64681 chr22 38041472 38041472 C T rs779047496 SH3BP1 Synonymous SNV I293I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 17.33 64682 chr9 17273754 17273754 A C rs3808794 CNTLN Nonsynonymous SNV E291D 0.01 0.005 0.014 2 12 2 0.005 4 0 0 0 0 23.4 64683 chr22 50521526 50521526 C G MLC1 Nonsynonymous SNV C85S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27 64684 chrX 37850192 37850192 C T rs767109332 HYPM Nonsynonymous SNV R34C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.73 64685 chr22 38165269 38165269 G A rs138139146 TRIOBP Nonsynonymous SNV E533K 0.01 0.008 0.007 3 12 3 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 64686 chr22 50659275 50659275 C T rs61745994 TUBGCP6 Synonymous SNV L1171L 0.036 0.055 0.024 10 42 21 0.026 7 2 0 0 0 3.706 64687 chr9 100777705 100777705 G A rs76167314 ANP32B Nonsynonymous SNV D250N 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 24.9 64688 chr22 50659380 50659380 G A rs17013247 TUBGCP6 Synonymous SNV H1136H 0.035 0.049 0.02 10 41 19 0.026 6 2 0 0 0 2.938 64689 chr9 100777710 100777710 T A rs112073824 ANP32B Nonsynonymous SNV D251E 0.015 0.016 0 3 18 6 0.008 0 0 0 0 0 13.51 64690 chr19 55823389 55823389 C G rs55796422 BRSK1 Nonsynonymous SNV P764A 0.005 0.016 0.007 6 6 6 0.015 2 0 0 0 0 2.643 64691 chrX 140993264 140993264 G A rs176036 MAGEC1 Nonsynonymous SNV C25Y 0.184 0.169 0.194 74 216 65 0.19 57 56 20 23 23 0.008 64692 chr22 38627339 38627339 G A rs61737782 TMEM184B Synonymous SNV A120A 0.036 0.021 0.02 7 42 8 0.018 6 0 0 0 0 13.46 64693 chr19 55895539 55895539 C A rs189206666 TMEM238 Nonsynonymous SNV G30V 0.014 0.013 0.024 4 16 5 0.01 7 0 0 0 0 23.7 64694 chrX 47836782 47836782 T G rs139610962 ZNF182 Nonsynonymous SNV E216A 0.003 0.003 0.007 0 3 1 0 2 1 0 1 0 22.9 64695 chr19 56009504 56009504 G A rs1033275721 SSC5D Nonsynonymous SNV A549T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 64696 chrX 132826404 132826404 C T rs11539789 GPC3 Nonsynonymous SNV V375M 0.004 0 0 2 5 0 0.005 0 1 0 0 0 Benign/Likely benign 33 64697 chr20 61879029 61879029 G A rs149980372 NKAIN4 Synonymous SNV L62L 0.003 0.013 0.003 2 4 5 0.005 1 0 0 0 0 7.368 64698 chr22 50962078 50962078 G T rs112793292 SCO2 Synonymous SNV R255R 0.01 0.005 0.007 0 12 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.518 64699 chrX 152663606 152663606 G T rs782556220 PNMA6E Synonymous SNV G234G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 64700 chr22 40075307 40075307 G A rs368234927 CACNA1I Nonsynonymous SNV E1716K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 26.1 64701 chrX 152663607 152663607 C G rs868914505 PNMA6E Nonsynonymous SNV G234A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.176 64702 chrX 153040366 153040366 C T rs149518255 PLXNB3 Synonymous SNV S1321S 0.002 0 0 1 2 0 0.003 0 1 0 0 0 13 64703 chr22 51159595 51159595 C T rs376858991 SHANK3 Synonymous SNV L1173L 0.014 0.003 0 4 16 1 0.01 0 0 0 0 0 Likely benign 10.68 64704 chrX 49061742 49061742 C T rs33910054 CACNA1F Nonsynonymous SNV R1919H 0.076 0.107 0.075 34 89 41 0.087 22 22 13 6 9 Benign 22.9 64705 chr20 62194510 62194510 T C rs34980032 HELZ2 Nonsynonymous SNV T1320A 0.031 0.029 0.048 9 36 11 0.023 14 0 0 0 1 0.001 64706 chr19 56228156 56228156 G A rs140305977 NLRP9 Synonymous SNV D756D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.356 64707 chrX 49070676 49070676 G A rs150205903 CACNA1F Synonymous SNV V1217V 0.004 0.005 0 0 5 2 0 0 1 0 0 0 Benign/Likely benign 12.26 64708 chrX 49113312 49113312 G A rs2232367 FOXP3 Synonymous SNV S146S 0.045 0.049 0.068 5 53 19 0.013 20 12 4 7 2 Benign/Likely benign 8.745 64709 chrX 153175295 153175295 C A rs2070099 ARHGAP4 Nonsynonymous SNV V772L 0.051 0.057 0.058 16 60 22 0.041 17 11 6 4 3 0.1 64710 chr22 41574351 41574351 G A rs142673005 EP300 Synonymous SNV Q2186Q 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 0.833 64711 chr9 95237024 95237024 - TCATCATCATCA ASPN D50_E51insDDDD 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 64712 chrX 50658966 50658966 G A rs104894767 BMP15 Nonsynonymous SNV A180T 0.003 0.005 0 2 4 2 0.005 0 1 0 0 1 Conflicting interpretations of pathogenicity 0.077 64713 chrX 139038553 139038553 A G rs146749052 CXorf66 Synonymous SNV Y196Y 0.003 0.005 0 0 3 2 0 0 1 1 0 0 0.003 64714 chr9 95872996 95872996 C T rs33945538 CARD19 Synonymous SNV H99H 0.035 0.021 0.048 13 41 8 0.033 14 2 0 0 0 10.05 64715 chrX 15349998 15349998 G A rs34422225 PIGA Nonsynonymous SNV R19W 0.037 0.034 0.054 15 44 13 0.038 16 11 3 6 3 Benign 6.874 64716 chr22 42321451 42321451 G A rs61756766 TNFRSF13C Nonsynonymous SNV H159Y 0.013 0.016 0.017 12 15 6 0.031 5 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 64717 chrX 55033116 55033116 C T rs145122391 APEX2 Nonsynonymous SNV H98Y 0.003 0.01 0 1 3 4 0.003 0 1 1 0 0 21.7 64718 chr19 56539732 56539732 G A NLRP5 Stop gain W711X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 64719 chr9 125562651 125562651 G A rs55961642 OR1K1 Nonsynonymous SNV A84T 0.006 0.008 0.01 7 7 3 0.018 3 0 0 0 0 13.73 64720 chrX 2867413 2867413 C T rs17325750 ARSE Synonymous SNV T208T 0.067 0.042 0.068 24 79 16 0.062 20 23 5 5 6 Benign 10.75 64721 chr19 56888450 56888450 A G rs2304124 ZNF542P 0 0 0.112 0 0 0 0 33 0 0 2 0 0.629 64722 chrX 9863286 9863286 G T rs140533569 SHROOM2 Nonsynonymous SNV E446D 0.003 0.003 0.007 1 3 1 0.003 2 1 0 1 0 0.118 64723 chr22 43442557 43442557 G A rs183712594 TTLL1 Nonsynonymous SNV T334M 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 29.4 64724 chrX 12725701 12725701 C G rs6641078 FRMPD4 Synonymous SNV V427V 0.078 0.073 0.044 26 91 28 0.067 13 23 6 5 6 Likely benign 7.999 64725 chr9 34648167 34648167 A G rs75391579 GALT Nonsynonymous SNV Q79R 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 Pathogenic 25.3 64726 chrX 12904662 12904662 G A rs5743780 TLR7 Synonymous SNV L345L 0.018 0.034 0.01 0 21 13 0 3 5 2 1 0 0.402 64727 chrX 69640072 69640072 G C rs369147441 KIF4A Nonsynonymous SNV S1219T 0.003 0.003 0 6 3 1 0.015 0 0 0 0 1 24.3 64728 chr9 99404115 99404115 T C rs142681714 PRXL2C Nonsynonymous SNV I203V 0.014 0.005 0.014 7 17 2 0.018 4 0 0 0 1 23.3 64729 chrX 69672557 69672557 A G DLG3 Nonsynonymous SNV Q29R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.28 64730 chr19 57062047 57062047 C T rs1990575 ZFP28 Nonsynonymous SNV S324F 0.048 0.036 0.058 18 56 14 0.046 17 1 1 0 0 7.607 64731 chr9 35546923 35546923 C T rs41277049 RUSC2 Synonymous SNV G135G 0.014 0.026 0.017 7 17 10 0.018 5 0 0 0 0 6.769 64732 chrX 15838411 15838411 C T rs148608893 ZRSR2 Synonymous SNV P303P 0.028 0.023 0.024 8 33 9 0.021 7 9 2 2 1 Benign 16.69 64733 chr21 19770562 19770562 T C rs2824804 TMPRSS15 Nonsynonymous SNV K77R 0.051 0.039 0.037 19 60 15 0.049 11 4 0 0 0 4.755 64734 chr22 44064796 44064796 T G rs755569176 EFCAB6 Nonsynonymous SNV E438D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.011 64735 chrX 101911045 101911045 C T rs200940188 GPRASP1 Nonsynonymous SNV T735I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.76 64736 chrX 153592487 153592487 T C rs375038091 FLNA Nonsynonymous SNV N728S 0.005 0 0 0 6 0 0 0 2 0 0 0 Uncertain significance 24.5 64737 chrX 153631911 153631911 C T rs34952165 DNASE1L1 Nonsynonymous SNV V122I 0.043 0.055 0.024 20 50 21 0.051 7 12 5 2 4 5.643 64738 chrX 7268041 7268041 C T rs150156359 STS Synonymous SNV H492H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.96 64739 chr22 44322960 44322960 C T rs749684264 PNPLA3 Synonymous SNV S111S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.182 64740 chrX 76939188 76939193 AACAGA - ATRX S481_V482del 0 0.003 0 0 0 1 0 0 0 0 0 0 64741 chrX 76939198 76939198 A C ATRX Nonsynonymous SNV I479S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 64742 chrX 106229396 106229396 G T rs202090135 MORC4 Nonsynonymous SNV Q115K 0.002 0 0 2 2 0 0.005 0 0 0 0 1 23.2 64743 chrX 106229397 106229397 G C rs200086481 MORC4 Nonsynonymous SNV S114R 0.002 0 0 2 2 0 0.005 0 0 0 0 1 24.2 64744 chrX 30260458 30260458 C T rs141706428 MAGEB4 Nonsynonymous SNV T69I 0.014 0.005 0 2 17 2 0.005 0 6 0 0 0 0.289 64745 chr22 44681317 44681317 G A rs62226816 SHISAL1 Nonsynonymous SNV S197L 0.022 0.026 0.01 11 26 10 0.028 3 1 0 0 1 25.9 64746 chr9 130507052 130507052 T G SH2D3C Nonsynonymous SNV N373H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.2 64747 chrX 36178813 36178813 G A rs6632504 CFAP47 Nonsynonymous SNV E1985K 0.003 0 0 1 3 0 0.003 0 1 0 0 0 1.715 64748 chrX 110494841 110494841 C G rs12013711 CAPN6 Nonsynonymous SNV V277L 0.049 0.029 0.041 16 58 11 0.041 12 11 2 4 6 9.531 64749 chrX 38144988 38144988 C T rs78736275 RPGR Synonymous SNV V1088V 0.016 0.008 0.003 9 19 3 0.023 1 6 0 0 2 Benign 7.958 64750 chr21 31538811 31538811 A G rs142016231 CLDN17 Nonsynonymous SNV V42A 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 25.6 64751 chrX 38145033 38145033 G A rs111787313 RPGR Synonymous SNV G1073G 0.016 0.008 0 9 19 3 0.023 0 6 0 0 2 Benign 9.099 64752 chrX 110496391 110496391 G A rs17882737 CAPN6 Synonymous SNV Y117Y 0.014 0.003 0 4 16 1 0.01 0 3 0 0 2 5.078 64753 chrX 111078236 111078236 G C rs61729630 TRPC5 Synonymous SNV T603T 0.049 0.049 0.027 6 58 19 0.015 8 16 3 3 0 5.103 64754 chrX 38156660 38156660 T C rs62635003 RPGR Nonsynonymous SNV I369V 0.015 0.008 0.003 9 18 3 0.023 1 6 0 0 2 Benign 0.001 64755 chr19 58452599 58452599 T G rs141682900 ZNF256 Nonsynonymous SNV K526T 0.018 0.034 0.017 4 21 13 0.01 5 0 0 0 0 26.2 64756 chr9 130658546 130658546 C T rs373832859 ST6GALNAC6 Nonsynonymous SNV R31H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.43 64757 chrX 48846086 48846086 A G GRIPAP1 Synonymous SNV A269A 0.003 0.003 0 0 4 1 0 0 1 0 0 0 10.23 64758 chr9 5557726 5557726 T A rs139007200 PDCD1LG2 Nonsynonymous SNV L247H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.55 64759 chr9 5656610 5656610 G C rs12686794 RIC1 Nonsynonymous SNV E58Q 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 23.4 64760 chrX 47308579 47308579 T C rs148585367 ZNF41 Nonsynonymous SNV K111R 0.007 0.018 0 7 8 7 0.018 0 2 2 0 3 Benign 0.381 64761 chr9 130885324 130885324 G A rs759124178 PTGES2 Nonsynonymous SNV A259V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 64762 chrX 47445940 47445940 C T rs11551797 TIMP1 Synonymous SNV I158I 0.018 0.018 0.003 3 21 7 0.008 1 6 1 0 0 16.53 64763 chrX 117907898 117907898 G A rs775001455 IL13RA1 Nonsynonymous SNV V356I 0.001 0 0 2 1 0 0.005 0 0 0 0 1 7.663 64764 chrX 118533423 118533423 T C rs5957164 SLC25A43 Synonymous SNV A19A 0.032 0.021 0.031 13 38 8 0.033 9 10 3 2 5 0.083 64765 chr21 33723182 33723182 G A rs372046735 URB1 Nonsynonymous SNV S888L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23.4 64766 chrX 50345770 50345770 T G SHROOM4 Nonsynonymous SNV I1269L 0.003 0.01 0 3 3 4 0.008 0 1 1 0 1 17.89 64767 chr9 131379998 131379998 C A rs3750333 SPTAN1 Synonymous SNV R1788R 0.017 0.026 0.031 14 20 10 0.036 9 0 0 1 0 Benign 22.9 64768 chr10 101451194 101451194 A C rs72832512 ENTPD7 Synonymous SNV V254V 0.049 0.034 0.041 21 58 13 0.054 12 1 1 0 0 4.67 64769 chr21 34828050 34828050 C T rs34327244 TMEM50B Nonsynonymous SNV A139T 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 23.6 64770 chrX 123615807 123615807 G A rs145896600 TENM1 Nonsynonymous SNV P1235S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 1 24.5 64771 chrX 124097564 124097564 T C rs143307335 TENM1 Synonymous SNV P13P 0.034 0.049 0.037 12 40 19 0.031 11 9 3 4 3 0.23 64772 chrX 68381797 68381797 C T rs143670774 PJA1 Nonsynonymous SNV A374T 0.026 0.023 0.01 11 30 9 0.028 3 5 3 1 4 Benign 12.2 64773 chr21 34997018 34997018 C T rs13050238 CRYZL1 Nonsynonymous SNV A39T 0.023 0.013 0.007 3 27 5 0.008 2 0 0 0 0 32 64774 chr21 35107352 35107352 A G rs143777464 ITSN1 Synonymous SNV A63A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 8.138 64775 chr19 6151723 6151723 T C rs34245738 ACSBG2 Synonymous SNV G101G 0.015 0.013 0.024 2 18 5 0.005 7 0 1 1 0 2.474 64776 chr10 104118327 104118327 A G rs747107445 GBF1 Synonymous SNV A284A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.93 64777 chr19 6230692 6230692 G A rs2233188 MLLT1 Synonymous SNV D103D 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 10.27 64778 chr19 6467910 6467910 T C rs35173535 DENND1C Nonsynonymous SNV K627E 0.031 0.013 0.017 5 36 5 0.013 5 0 0 0 1 0.001 64779 chr9 131812122 131812122 G A rs143593912 MIGA2 Synonymous SNV E185E 0.019 0.01 0.007 5 22 4 0.013 2 0 0 0 0 6.944 64780 chr19 6472930 6472930 C A rs74800876 DENND1C Synonymous SNV R332R 0.026 0.013 0.017 5 31 5 0.013 5 0 0 0 1 11.96 64781 chrX 129306052 129306052 C G rs11542874 RAB33A Nonsynonymous SNV L6V 0.047 0.063 0.017 9 55 24 0.023 5 13 6 2 3 22 64782 chr9 132571295 132571295 C T rs150064453 TOR1B Synonymous SNV V251V 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 16.52 64783 chrX 74494304 74494304 C T rs144630001 UPRT Nonsynonymous SNV S72F 0.019 0.023 0.007 5 22 9 0.013 2 4 1 1 2 14 64784 chr10 105202091 105202091 G T rs146747336 PDCD11 Nonsynonymous SNV R1610L 0.007 0.008 0.01 7 8 3 0.018 3 0 0 0 0 32 64785 chr9 77611258 77611258 A G rs10869466 CARNMT1-AS1 0.052 0.031 0.119 22 61 12 0.056 35 24 5 8 7 1.957 64786 chr21 38132047 38132047 T C HLCS Synonymous SNV E739E 0.009 0.003 0 0 10 1 0 0 0 0 0 0 6.642 64787 chrX 70468642 70468642 C G rs888358136 ZMYM3 Nonsynonymous SNV R544P 0.003 0.01 0 1 4 4 0.003 0 1 1 0 0 21.2 64788 chrX 140967121 140967121 A T rs12852593 MAGEC3 Nonsynonymous SNV D140V 0.023 0.016 0.014 7 27 6 0.018 4 7 2 1 2 20.9 64789 chr19 7928363 7928363 G T rs149602935 EVI5L Synonymous SNV G720G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 6.682 64790 chrX 140994887 140994887 A G rs58318084 MAGEC1 Nonsynonymous SNV Q566R 0.049 0.049 0.034 10 58 19 0.026 10 13 6 4 2 10.22 64791 chrX 141290724 141290724 G A rs140947271 MAGEC2 Synonymous SNV T350T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 1 7.865 64792 chrX 103431239 103431239 C A FAM199X Synonymous SNV I222I 0.009 0.003 0 0 10 1 0 0 3 0 0 0 16.14 64793 chrX 142121832 142121832 G A rs202204854 SPANXN4 Nonsynonymous SNV A34T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 1 16.37 64794 chr22 50989678 50989678 A G rs6009989 SYCE3 Nonsynonymous SNV L88P 0.032 0.013 0.024 9 38 5 0.023 7 0 0 0 0 1.511 64795 chrX 144906370 144906370 A G rs45540333 SLITRK2 Synonymous SNV K809K 0.044 0.042 0.048 12 52 16 0.031 14 12 3 5 3 0.042 64796 chr10 112667506 112667506 G A rs117419791 BBIP1 Synonymous SNV S42S 0.021 0.016 0.017 5 25 6 0.013 5 0 0 0 0 4.508 64797 chr9 79465455 79465455 C T rs41304230 PRUNE2 Nonsynonymous SNV D90N 0.009 0.013 0.031 7 11 5 0.018 9 0 0 0 0 33 64798 chr22 50989824 50989824 C T rs6009990 SYCE3 Synonymous SNV A39A 0.032 0.013 0.024 9 38 5 0.023 7 0 0 0 0 18.02 64799 chr22 51011348 51011348 G A rs34744246 CPT1B Synonymous SNV L402L 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 14.29 64800 chr22 51016360 51016360 G A rs6520157 CHKB-CPT1B 0.01 0.005 0.01 3 12 2 0.008 3 0 0 0 0 17.94 64801 chr9 79938069 79938069 G A rs41289969 VPS13A Nonsynonymous SNV V1934I 0.022 0.023 0.01 5 26 9 0.013 3 0 0 0 0 Benign/Likely benign 24.2 64802 chrX 107819192 107819192 C G COL4A5 Nonsynonymous SNV P200R 0.004 0.003 0 0 5 1 0 0 1 0 0 0 16.05 64803 chrX 149945942 149945942 G A rs140019374 CD99L2 Synonymous SNV Y97Y 0.004 0.003 0 4 5 1 0.01 0 0 0 0 1 1.975 64804 chr10 101557063 101557063 G A rs56131651 ABCC2 Nonsynonymous SNV S281N 0.018 0.008 0.027 6 21 3 0.015 8 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 64805 chrX 117676909 117676909 A G rs17326744 DOCK11 Synonymous SNV Q80Q 0.112 0.078 0.102 37 132 30 0.095 30 41 7 9 11 3.829 64806 chr9 127083792 127083792 G A rs143094065 NEK6 Nonsynonymous SNV E135K 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 28.6 64807 chrX 117732044 117732044 A T rs16995229 DOCK11 Nonsynonymous SNV I813F 0.072 0.044 0.048 21 84 17 0.054 14 27 3 5 6 25.4 64808 chr9 135538016 135538016 C T rs17402080 DDX31 Nonsynonymous SNV E153K 0.026 0.01 0.024 7 30 4 0.018 7 0 0 0 0 3.731 64809 chrX 152091331 152091331 C T ZNF185 Nonsynonymous SNV P269S 0.007 0.003 0 3 8 1 0.008 0 1 0 0 1 9.278 64810 chr10 102743692 102743692 C T rs772968534 SEMA4G Nonsynonymous SNV P779L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 64811 chr9 136298777 136298777 C T rs145825553 ADAMTS13 Nonsynonymous SNV R421C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Uncertain significance 33 64812 chr10 102891390 102891390 G A rs140202357 TLX1 Nonsynonymous SNV G31D 0.011 0.016 0.003 4 13 6 0.01 1 0 0 0 0 22.8 64813 chr10 103285900 103285900 C T rs17767748 BTRC Synonymous SNV I203I 0.053 0.052 0.048 9 62 20 0.023 14 1 1 0 0 14.01 64814 chrX 153136348 153136348 A G rs375862497 L1CAM Synonymous SNV N192N 0.008 0.003 0 3 9 1 0.008 0 1 0 0 1 Uncertain significance 0.062 64815 chr10 103344589 103344589 T G rs3730463 POLL Nonsynonymous SNV T221P 0.053 0.052 0.048 9 62 20 0.023 14 1 1 0 0 0.197 64816 chr10 115411594 115411594 G A rs140934697 NRAP Nonsynonymous SNV R215W 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 28.4 64817 chr19 8922736 8922736 T C rs781973067 ZNF558 Nonsynonymous SNV R73G 0 0 0.003 0 0 0 0 1 0 0 0 0 21 64818 chr9 95237027 95237027 - TCATCATCA ASPN 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 64819 chrX 15534340 15534340 C A BMX Nonsynonymous SNV T144N 0.008 0 0 5 9 0 0.013 0 3 0 0 2 24 64820 chr19 8993539 8993539 C T rs187392925 MUC16 Synonymous SNV E13850E 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Benign 10.3 64821 chr9 136660845 136660845 T A rs61761612 VAV2 Nonsynonymous SNV H344L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.6 64822 chr10 104126188 104126188 C T rs147857323 GBF1 Synonymous SNV Y786Y 0.006 0.013 0.007 4 7 5 0.01 2 0 0 0 0 13.55 64823 chr10 104162053 104162053 C G NFKB2 Nonsynonymous SNV Q874E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.866 64824 chr21 44838961 44838961 T C SIK1, SIK1B Nonsynonymous SNV T468A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.5 64825 chr9 130494486 130494486 G A rs114990094 TOR2A Nonsynonymous SNV A60V 0.036 0.026 0.024 19 42 10 0.049 7 0 0 0 0 25.9 64826 chr10 116021049 116021049 T G rs774659839 VWA2 Synonymous SNV V122V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 7.75 64827 chrX 23411300 23411300 G A rs146777271 PTCHD1 Synonymous SNV V555V 0.003 0.005 0 4 4 2 0.01 0 1 0 0 1 Likely benign 2.066 64828 chr9 96411411 96411411 G A rs140183485 PHF2 Synonymous SNV K173K 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 13.1 64829 chr9 130509439 130509439 A G rs2233505 SH2D3C Synonymous SNV P259P 0.045 0.036 0.044 23 53 14 0.059 13 1 0 0 0 9.871 64830 chrX 24197822 24197822 A G rs61738363 ZFX Nonsynonymous SNV N194S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.891 64831 chr21 45539365 45539365 C T rs765144760 LOC102724159, PWP2 Synonymous SNV P383P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.62 64832 chr10 111893094 111893094 G A ADD3 Synonymous SNV E581E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.824 64833 chrX 30714750 30714750 A G rs759449259 GK Nonsynonymous SNV M227V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.18 64834 chr9 99797876 99797876 C T rs149543665 CTSV Nonsynonymous SNV A241T 0.007 0 0.003 0 8 0 0 1 0 0 0 0 29 64835 chrX 152770714 152770714 A G rs146073993 BGN Nonsynonymous SNV K86R 0.046 0.044 0.027 12 54 17 0.031 8 15 5 2 3 4.684 64836 chr10 114427978 114427978 G A rs17353359 VTI1A Synonymous SNV E143E 0.049 0.047 0.02 23 58 18 0.059 6 1 1 0 0 12.28 64837 chrX 32613904 32613904 G A DMD Synonymous SNV H516H 0.007 0.003 0.003 0 8 1 0 1 1 0 0 0 Likely benign 8.829 64838 chr10 115372156 115372156 G A rs1539587 NRAP Nonsynonymous SNV A1076V 0.019 0.026 0.031 14 22 10 0.036 9 0 0 0 1 22.3 64839 chr19 9077092 9077092 T C rs770618394 MUC16 Nonsynonymous SNV I3452V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.051 64840 chr19 9082922 9082922 A C MUC16 Nonsynonymous SNV S2965A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 64841 chr9 139909206 139909206 C T rs148980220 ABCA2 Synonymous SNV T1313T 0.012 0.005 0.007 4 14 2 0.01 2 0 0 0 0 8.591 64842 chrX 36053872 36053872 A G CFAP47 Nonsynonymous SNV T1238A 0.001 0 0 2 1 0 0.005 0 0 0 0 1 3.547 64843 chr10 124754060 124754060 T C rs200500907 IKZF5 Nonsynonymous SNV I166V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.785 64844 chr10 100022720 100022720 G A rs142239686 LOXL4 Synonymous SNV P19P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.152 64845 chr9 140069430 140069430 C T rs544312391 ANAPC2 Synonymous SNV S811S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.11 64846 chr10 123310927 123310927 A G rs766869457 FGFR2 Synonymous SNV H52H 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 1.58 64847 chrX 47500670 47500670 G A rs750807633 ELK1 Synonymous SNV Y57Y 0.001 0 0 2 1 0 0.005 0 0 0 0 1 8.849 64848 chrX 48460587 48460587 C T WDR13 Nonsynonymous SNV L291F 0.003 0 0 2 3 0 0.005 0 1 0 0 1 29.2 64849 chrX 48754134 48754134 G T TIMM17B Synonymous SNV R12R 0.002 0.008 0 0 2 3 0 0 0 1 0 0 12.34 64850 chrX 53576155 53576155 C T rs782566959 HUWE1 Nonsynonymous SNV R3267H 0.005 0 0 2 6 0 0.005 0 2 0 0 0 26.5 64851 chrX 53574783 53574785 GTG - rs782446150 HUWE1 T3496del 0.004 0.008 0 0 5 3 0 0 1 1 0 0 64852 chrX 56591689 56591689 G A rs142250604 UBQLN2 Synonymous SNV G461G 0.009 0 0.014 3 11 0 0.008 4 4 0 1 0 Benign/Likely benign 1.174 64853 chr10 104184052 104184052 G A rs200550064 CUEDC2 Nonsynonymous SNV S127L 0.009 0.016 0.007 0 11 6 0 2 1 0 0 0 11.74 64854 chrX 63410123 63410123 T C AMER1 Nonsynonymous SNV E1015G 0.004 0.008 0 0 5 3 0 0 1 1 0 0 12.15 64855 chrX 65244971 65244971 C T rs17315645 VSIG4 Nonsynonymous SNV G185E 0.027 0.047 0.034 12 32 18 0.031 10 5 6 4 3 11.01 64856 chr10 126517348 126517348 C A rs778031890 ABRAXAS2 Nonsynonymous SNV A161D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 64857 chrX 66766162 66766162 C T rs201934623 AR Nonsynonymous SNV P392S 0.002 0 0 7 2 0 0.018 0 0 0 0 1 Conflicting interpretations of pathogenicity 22.9 64858 chr9 135458437 135458437 G A rs757959542 BARHL1 Nonsynonymous SNV A85T 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 23.3 64859 chrX 66863125 66863125 G T rs139524801 AR Nonsynonymous SNV L548F 0.004 0 0 2 5 0 0.005 0 2 0 0 0 6.069 64860 chr22 19198017 19198017 T A rs117542241 CLTCL1 Nonsynonymous SNV N1023I 0.018 0.016 0.014 5 21 6 0.013 4 0 0 0 0 26.1 64861 chr9 135781117 135781117 G A rs752286096 TSC1 Synonymous SNV A565A 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 Benign 9.974 64862 chr1 103364285 103364285 G A rs112577505 COL11A1 Synonymous SNV V1279V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 14.14 64863 chr10 126715772 126715772 G A CTBP2 Nonsynonymous SNV P186L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 64864 chr22 19839438 19839438 C T rs17745302 RTL10 Nonsynonymous SNV R116H 0.051 0.029 0.048 12 60 11 0.031 14 1 0 0 0 15.24 64865 chr9 136208438 136208438 G C rs139806947 MED22 Nonsynonymous SNV P174A 0.007 0.01 0.003 5 8 4 0.013 1 0 0 0 0 11.22 64866 chr9 136227185 136227185 G A rs1017335332 SURF2 Nonsynonymous SNV D188N 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 13.66 64867 chrX 70597546 70597546 C G rs28382158 TAF1 Nonsynonymous SNV L270V 0.019 0 0 7 22 0 0.018 0 7 0 0 2 Benign 15.18 64868 chr10 128193125 128193125 C T rs145052480 C10orf90 Nonsynonymous SNV G215E 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Likely benign 3.739 64869 chrX 71360100 71360100 C T rs7061150 NHSL2 Nonsynonymous SNV T901I 0.061 0.063 0.071 17 72 24 0.044 21 21 4 3 4 0.968 64870 chr10 121556259 121556259 G A rs34239637 INPP5F Nonsynonymous SNV M234I 0.009 0.023 0.017 2 11 9 0.005 5 0 0 0 0 4.486 64871 chr22 20073866 20073866 G A rs777864546 DGCR8 Nonsynonymous SNV S127N 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 22.9 64872 chr22 20918915 20918915 - CAG rs748572492 MED15 Q147_H148insQ 0.009 0.008 0.014 3 11 3 0.008 4 0 0 0 0 64873 chr9 19346710 19346710 A G rs17818730 DENND4C Nonsynonymous SNV T1266A 0.06 0.052 0.044 22 70 20 0.056 13 1 0 0 2 0.001 64874 chr1 109465078 109465078 G A GPSM2 Nonsynonymous SNV D494N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 64875 chr10 123843724 123843724 G C rs749966059 TACC2 Nonsynonymous SNV R570T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.707 64876 chr9 136653551 136653551 G A rs56296048 VAV2 Synonymous SNV Y439Y 0.01 0.008 0 5 12 3 0.013 0 0 0 0 0 Benign 10.46 64877 chr1 109779073 109779073 G A rs140717526 SARS1 Nonsynonymous SNV G387E 0.012 0.003 0.02 7 14 1 0.018 6 0 0 0 0 Benign 22.8 64878 chr1 109793034 109793034 C T rs142746289 CELSR2 Synonymous SNV P111P 0.014 0.003 0.017 7 16 1 0.018 5 0 0 0 0 Benign 9.679 64879 chrX 77913494 77913494 C T rs41306247 RTL3 Nonsynonymous SNV A142T 0.014 0.008 0.02 2 16 3 0.005 6 4 0 2 1 0.003 64880 chr9 137716562 137716562 G A rs755728242 COL5A1 Synonymous SNV A1605A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.646 64881 chr9 26842453 26842453 G A CAAP1 Nonsynonymous SNV S166F 0.001 0 0 0 1 0 0 0 0 0 0 0 27 64882 chr10 133930649 133930649 C T rs557088199 JAKMIP3 Synonymous SNV T68T 0.013 0.01 0 2 15 4 0.005 0 0 0 0 0 2.477 64883 chr10 112838453 112838453 C T rs752576613 ADRA2A Synonymous SNV R233R 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 12.13 64884 chr9 138011814 138011814 C T rs201911261 OLFM1 Synonymous SNV N416N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.81 64885 chrX 88009170 88009170 G C rs41307393 CPXCR1 Nonsynonymous SNV G252A 0.002 0.005 0 2 2 2 0.005 0 0 1 0 0 Benign 0.094 64886 chr9 27206669 27206669 G C rs55789591 TEK Synonymous SNV V670V 0.023 0.018 0.017 4 27 7 0.01 5 2 0 0 0 Benign 8.12 64887 chr1 1102563 1102563 G A rs72563729 MIR200B 0 0 0.01 0 0 0 0 3 0 0 0 0 8.711 64888 chr22 22892449 22892449 T C rs41277507 PRAME Nonsynonymous SNV M202V 0.047 0.044 0.027 15 55 17 0.038 8 1 0 0 0 0.002 64889 chr9 138642861 138642861 C T rs370046449 KCNT1 Synonymous SNV L88L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.24 64890 chr9 32419043 32419043 T C rs145004781 ACO1 Synonymous SNV G222G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.548 64891 chr9 139258684 139258684 C T CARD9 Nonsynonymous SNV A480T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.062 64892 chr9 139289277 139289277 A G rs144236447 SNAPC4 Synonymous SNV A175A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.248 64893 chrX 101912376 101912376 A G rs780010492 GPRASP1 Nonsynonymous SNV M1179V 0.003 0.008 0 3 3 3 0.008 0 1 1 0 0 23.6 64894 chr10 135084409 135084409 G A rs754558649 ADAM8 Stop gain Q475X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 64895 chr9 139412350 139412350 G A rs200562991 NOTCH1 Nonsynonymous SNV T432M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 64896 chr10 14890829 14890829 C A rs45567440 HSPA14 Nonsynonymous SNV T104N 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 24 64897 chr22 24087030 24087030 C T rs138150320 ZNF70 Nonsynonymous SNV D100N 0.01 0.01 0.003 8 12 4 0.021 1 1 0 0 0 19.14 64898 chr9 33467123 33467123 G A rs35291866 NOL6 Synonymous SNV H621H 0.003 0 0 0 4 0 0 0 0 0 0 0 10.27 64899 chr1 899899 899899 G T KLHL17 Nonsynonymous SNV M563I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 64900 chr10 135101657 135101657 A G rs371554618 TUBGCP2 Synonymous SNV T436T 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 0.012 64901 chr1 905770 905770 C T rs769532166 PLEKHN1 Synonymous SNV Y99Y 0.002 0 0 0 2 0 0 0 0 0 0 0 4.905 64902 chr1 909419 909419 C T rs28548431 PLEKHN1 Synonymous SNV D512D 0.112 0.081 0.116 50 131 31 0.128 34 14 2 2 2 10.92 64903 chr9 34343310 34343310 C A NUDT2 Nonsynonymous SNV R106S 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 23.5 64904 chr22 24481006 24481006 C G rs149291554 CABIN1 Nonsynonymous SNV N1005K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 17.49 64905 chr10 127677904 127677904 C T rs115650766 FANK1 Synonymous SNV H124H 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 0.49 64906 chr1 1115548 1115548 G A rs114390380 TTLL10 Nonsynonymous SNV G39R 0.02 0.013 0.014 6 24 5 0.015 4 0 0 0 0 12.77 64907 chr1 1216848 1216848 G A rs34385715 SCNN1D Synonymous SNV S45S 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 6.478 64908 chr10 13708110 13708110 C T rs376826116 FRMD4A Synonymous SNV S221S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 64909 chr1 1262964 1262964 C T rs769727965 CPTP Nonsynonymous SNV R156C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 64910 chr10 15600094 15600094 T C rs368768931 ITGA8 Synonymous SNV R900R 0 0.008 0 1 0 3 0.003 0 0 0 0 0 3.726 64911 chr10 15649710 15649710 G A rs2298033 ITGA8 Nonsynonymous SNV S562F 0.004 0.023 0.02 2 5 9 0.005 6 0 0 0 0 14.31 64912 chr1 1273987 1273987 G A rs374474114 DVL1 Synonymous SNV V418V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.025 64913 chr22 26173598 26173598 G A rs779117592 MYO18B Nonsynonymous SNV A640T 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 23 64914 chr1 114226143 114226143 G A rs61742849 MAGI3 Nonsynonymous SNV G1318D 0.062 0.065 0.048 19 73 25 0.049 14 1 0 0 2 16.33 64915 chr22 26423081 26423081 C T rs769468687 MYO18B Nonsynonymous SNV R2382C 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 23.1 64916 chr10 118351414 118351414 A G rs11197744 PNLIPRP1 Nonsynonymous SNV N61D 0.02 0.029 0.007 11 23 11 0.028 2 0 1 0 0 26.8 64917 chr10 129910468 129910468 C T rs76882822 MKI67 Nonsynonymous SNV R273Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.1 64918 chr10 120883045 120883045 A G rs74157632 DENND10 Nonsynonymous SNV N69D 0.01 0.01 0.017 3 12 4 0.008 5 0 0 0 0 0.008 64919 chr10 19820222 19820222 T C rs7100661 MALRD1 Nonsynonymous SNV M1807T 0.009 0.008 0 0 10 3 0 0 0 0 0 0 5.627 64920 chr9 38068451 38068451 T C rs112858544 SHB Synonymous SNV S64S 0.026 0.023 0.02 18 31 9 0.046 6 1 0 0 1 2.447 64921 chr9 140139855 140139855 G A rs61729154 FAM166A Synonymous SNV G142G 0.009 0 0.003 5 10 0 0.013 1 0 0 0 0 2.53 64922 chr9 140139868 140139868 G A rs149213997 FAM166A Nonsynonymous SNV P138L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.197 64923 chr10 21806056 21806056 G A rs763904059 SKIDA1 Synonymous SNV A232A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.275 64924 chr22 28503580 28503580 T C rs151258536 TTC28 Synonymous SNV R751R 0.016 0.01 0.027 4 19 4 0.01 8 0 0 0 0 Benign 0.276 64925 chr10 21806321 21806321 C T rs7072980 SKIDA1 Nonsynonymous SNV G144E 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 64926 chr10 21157673 21157673 C T rs137973321 NEBL Nonsynonymous SNV G202R 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.89 64927 chr10 22497920 22497920 T C rs539887962 EBLN1 Synonymous SNV T331T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.388 64928 chrX 132092608 132092608 A - rs750023244 HS6ST2 V8Afs*27 0.004 0 0.01 8 5 0 0.021 3 0 0 1 2 64929 chrX 134494824 134494824 G A rs200866322 ZNF449 Synonymous SNV E460E 0.005 0 0.007 8 6 0 0.021 2 1 0 1 2 7.09 64930 chr10 24832428 24832428 A T KIAA1217 Nonsynonymous SNV D1410V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 64931 chr9 140772477 140772477 G T rs201253748 CACNA1B Nonsynonymous SNV G31V 0.014 0.008 0.02 5 17 3 0.013 6 0 0 0 0 15.17 64932 chr9 71835842 71835842 C A rs41305539 TJP2 Nonsynonymous SNV Q132K 0.038 0.031 0.044 9 45 12 0.023 13 2 0 1 0 Benign 0.426 64933 chr10 25886727 25886727 A G rs147599331 GPR158 Synonymous SNV Q724Q 0.004 0.018 0.007 4 5 7 0.01 2 0 0 0 0 0.084 64934 chr22 30770282 30770282 G A rs1018716848 KIAA1656 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.875 64935 chr1 3551792 3551792 G A rs2296034 WRAP73 Synonymous SNV L224L 0.042 0.036 0.044 10 49 14 0.026 13 1 0 0 0 12.35 64936 chrX 140993654 140993654 T C rs139443648 MAGEC1 Nonsynonymous SNV F155S 0.009 0.01 0.003 10 11 4 0.026 1 4 0 0 3 0.015 64937 chr1 3680333 3680333 C T rs75853003 CCDC27 Nonsynonymous SNV T462M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.348 64938 chrX 140994095 140994095 C T rs112191471 MAGEC1 Nonsynonymous SNV P302L 0.014 0.013 0.024 13 17 5 0.033 7 2 2 3 4 23.4 64939 chr1 3745924 3745924 G A rs2275831 CEP104 Nonsynonymous SNV A686V 0.053 0.031 0.068 14 62 12 0.036 20 0 1 0 1 20.4 64940 chr1 12186058 12186058 A G rs2230625 TNFRSF8 Nonsynonymous SNV S291G 0.006 0.01 0.017 7 7 4 0.018 5 0 0 0 0 0.002 64941 chr1 12309350 12309350 G A rs185443968 VPS13D Nonsynonymous SNV G173D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 29 64942 chrX 144905410 144905410 T C rs142510418 SLITRK2 Synonymous SNV N489N 0.007 0 0 4 8 0 0.01 0 2 0 0 1 Benign 0.011 64943 chr22 31011350 31011350 C T rs35838082 TCN2 Nonsynonymous SNV R215W 0.029 0.031 0.031 16 34 12 0.041 9 1 0 1 2 Benign 27.9 64944 chr9 78943040 78943040 C T rs531512702 PCSK5 Synonymous SNV S1458S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.67 64945 chr22 31022461 31022461 A G rs148963479 TCN2 Nonsynonymous SNV R413G 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Uncertain significance 24.8 64946 chr9 20414343 20414343 - CTG rs749239229 MLLT3 S187_T188insS 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 64947 chrX 150912502 150912502 G A rs113295831 CNGA2 Synonymous SNV Q509Q 0.038 0.023 0.024 10 45 9 0.026 7 9 3 3 1 Benign 0.067 64948 chr22 31330144 31330144 G T rs142840638 MORC2 Nonsynonymous SNV S743Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.4 64949 chrX 151303243 151303243 G A rs146467787 MAGEA10 Nonsynonymous SNV R284W 0.002 0.005 0 3 2 2 0.008 0 0 1 0 1 25.7 64950 chr10 127344661 127344661 T A rs199647763 TEX36 Synonymous SNV S123S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.44 64951 chr1 144930977 144930977 A C rs143410813 PDE4DIP Synonymous SNV S244S 0.021 0.003 0.024 6 25 1 0.015 7 0 0 0 0 0.063 64952 chr1 7797350 7797350 C T rs41278950 CAMTA1 Synonymous SNV A169A 0.028 0.031 0.01 15 33 12 0.038 3 0 1 0 0 Benign 15.65 64953 chr10 31750099 31750099 C T rs7918614 ZEB1 Synonymous SNV D47D 0.02 0.023 0.037 10 24 9 0.026 11 0 0 0 0 9.922 64954 chr1 7798485 7798485 G A rs76980367 CAMTA1 Synonymous SNV G418G 0.028 0.034 0.007 15 33 13 0.038 2 0 1 0 0 Benign 8.76 64955 chr1 145584024 145584024 C T PIAS3 Nonsynonymous SNV P419S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 64956 chr1 8421866 8421866 G A rs761875399 RERE Nonsynonymous SNV T104M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.6 64957 chr1 146757108 146757108 A G rs150176851 CHD1L Synonymous SNV R450R 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 0.208 64958 chr9 33062098 33062098 G C SMU1 Synonymous SNV V193V 0 0 0 3 0 0 0.008 0 0 0 0 0 10.1 64959 chr1 9070244 9070244 G A rs374697558 SLC2A7 Synonymous SNV C358C 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.75 64960 chr9 33366682 33366682 G A rs146508853 NFX1 Nonsynonymous SNV R1033Q 0.018 0.01 0.017 9 21 4 0.023 5 0 0 0 0 23.4 64961 chr9 90283514 90283514 C T rs3750538 DAPK1 Synonymous SNV D642D 0.054 0.044 0.075 17 63 17 0.044 22 0 0 1 1 11.98 64962 chr1 9667714 9667714 C T rs1034355677 TMEM201 Synonymous SNV P420P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.73 64963 chr1 150923481 150923481 G A rs761912588 SETDB1 Nonsynonymous SNV E710K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 64964 chr9 34489356 34489356 A G rs77344166 DNAI1 Synonymous SNV Q99Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.661 64965 chr9 93641193 93641193 C T rs34231418 SYK Synonymous SNV F490F 0.045 0.031 0.031 11 53 12 0.028 9 2 2 0 0 15.21 64966 chr9 34610971 34610971 - GG rs768027135 RPP25L Frameshift insertion L108Pfs*69 0 0 0 1 0 0 0.003 0 0 0 0 0 64967 chr10 101294851 101294851 G A rs184601313 NKX2-3 Synonymous SNV S156S 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 16.6 64968 chr9 34648858 34648858 C T GALT Nonsynonymous SNV R154W 0.002 0 0 3 2 0 0.008 0 0 0 0 0 28.1 64969 chrX 154004531 154004533 AAG - rs781922569 DKC1 K467del 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 64970 chr10 101458292 101458292 T C rs201824995 ENTPD7 Synonymous SNV L338L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.875 64971 chrY 16952347 16952347 T C rs764411802 NLGN4Y Synonymous SNV N384N 0.157 0.094 0.007 34 184 36 0.087 2 91 18 1 17 0.674 64972 chr1 151134552 151134552 G A rs768117541 LYSMD1 Nonsynonymous SNV R21C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 64973 chr9 95768448 95768448 G A rs3802384 FGD3 Nonsynonymous SNV V275I 0.078 0.049 0.068 24 91 19 0.062 20 4 0 1 1 0.009 64974 chr22 36537775 36537775 C T rs142057520 APOL3 Nonsynonymous SNV A228T 0.015 0.008 0.027 2 18 3 0.005 8 0 0 0 0 Benign 6.975 64975 chr1 151497202 151497202 G A rs12038198 CGN Nonsynonymous SNV R485Q 0.024 0.023 0.031 6 28 9 0.015 9 0 0 0 1 23.4 64976 chr10 46965119 46965119 G C rs199531397 LOC102724488, SYT15 Nonsynonymous SNV P160A 0.009 0.013 0 2 11 5 0.005 0 0 0 0 0 21.7 64977 chr22 36556836 36556836 C A rs148885226 APOL3 Nonsynonymous SNV G35V 0.015 0.005 0.003 2 18 2 0.005 1 0 0 0 0 Likely benign 12.75 64978 chr10 102770304 102770315 CGGCTGCGGCTA - rs946520837 PDZD7 R781_S784del 0.001 0 0 0 1 0 0 0 0 0 0 0 64979 chr22 36684331 36684331 C T rs5756130 MYH9 Synonymous SNV R1633R 0.055 0.036 0.027 15 65 14 0.038 8 1 0 0 0 Benign 10.21 64980 chr9 35825284 35825284 G A rs750511396 FAM221B Stop gain Q229X 0 0 0 1 0 0 0.003 0 0 0 0 0 32 64981 chr9 35906583 35906583 - CCACCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPH 0.001 0 0 1 1 0 0.003 0 0 0 0 0 64982 chr10 23481503 23481503 C T rs140097468 PTF1A Nonsynonymous SNV A15V 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 64983 chr9 36169723 36169723 G A rs34789048 CCIN Nonsynonymous SNV S75N 0.064 0.091 0.061 28 75 35 0.072 18 5 0 0 0 0.003 64984 chr10 103906768 103906768 C G rs147678394 PPRC1 Nonsynonymous SNV A1220G 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 7.406 64985 chr10 101578952 101578952 T G rs17222617 ABCC2 Nonsynonymous SNV L849R 0.016 0.01 0.02 5 19 4 0.013 6 0 0 0 0 Benign 13.27 64986 chr10 27333121 27333121 - A rs749880815 ANKRD26 0.016 0.026 0.003 9 19 10 0.023 1 0 1 0 1 64987 chr1 11907430 11907430 T G rs61757261 NPPA Nonsynonymous SNV S64R 0.013 0.003 0.007 2 15 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.059 64988 chr10 135012203 135012203 G A rs762357484 KNDC1 Nonsynonymous SNV G731R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.029 64989 chr10 27497191 27497191 G A rs7918793 ACBD5 Nonsynonymous SNV T286M 0.043 0.057 0.041 21 50 22 0.054 12 0 1 0 1 18.1 64990 chr1 12569003 12569003 A G VPS13D Synonymous SNV A4339A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.493 64991 chr10 102250587 102250587 C T rs75529153 SEC31B Synonymous SNV A842A 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 14.01 64992 chr9 98876926 98876926 T C rs745357369 LOC158434 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.411 64993 chr10 46999867 46999867 G T rs41314465 GPRIN2 Synonymous SNV P329P 0.023 0.036 0.031 14 27 14 0.036 9 0 0 0 0 1.536 64994 chr22 38122225 38122225 G A rs200559738 TRIOBP Nonsynonymous SNV R1221Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 64995 chr10 48390041 48390041 C T rs2376635 RBP3 Synonymous SNV T279T 0.099 0.102 0.105 40 116 39 0.103 31 4 0 5 0 Benign/Likely benign 10.11 64996 chr10 1405673 1405673 G A rs114767511 ADARB2 Synonymous SNV G209G 0.011 0.01 0.017 4 13 4 0.01 5 0 0 0 0 0.59 64997 chr1 153635729 153635729 G A ILF2 Synonymous SNV N218N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.205 64998 chrX 101909866 101909866 A C rs187295857 GPRASP1 Nonsynonymous SNV D342A 0.002 0 0 0 2 0 0 0 1 0 0 0 22.8 64999 chr10 15008554 15008554 A G rs7079652 MEIG1 Synonymous SNV Q29Q 0.018 0.026 0.007 4 21 10 0.01 2 0 0 0 0 1.548 65000 chr1 153934820 153934820 C T rs61755890 SLC39A1 Nonsynonymous SNV R65H 0.001 0.003 0.003 5 1 1 0.013 1 0 0 0 1 22.5 65001 chr9 4604259 4604259 G A rs751584566 SPATA6L Nonsynonymous SNV T276I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 17.82 65002 chr1 154309918 154309918 C G rs41299633 ATP8B2 Nonsynonymous SNV P330R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 65003 chr1 15707775 15707775 A G rs113966492 FHAD1 Nonsynonymous SNV M1262V 0.022 0.026 0.027 8 26 10 0.021 8 0 0 0 0 18.25 65004 chr10 105816859 105816859 C A rs200223042 COL17A1 Nonsynonymous SNV G447C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 65005 chr1 16051990 16051990 G C rs61738982 PLEKHM2 Nonsynonymous SNV E297D 0.014 0.018 0.024 1 16 7 0.003 7 0 0 0 0 Benign 0.054 65006 chr22 39621819 39621819 G A rs114786489 PDGFB Nonsynonymous SNV T212M 0.01 0.005 0.01 1 12 2 0.003 3 0 0 0 0 Benign 19.3 65007 chr1 16134028 16134028 C A rs749409697 UQCRHL Nonsynonymous SNV Q39H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.69 65008 chr10 50531931 50531931 G A rs75053680 C10orf71 Synonymous SNV L447L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 8.764 65009 chr9 6329011 6329011 G - rs202244630 TPD52L3 W139Cfs*52 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 65010 chr22 39884942 39884942 G A rs117647351 MGAT3 Synonymous SNV E530E 0.017 0.042 0.027 11 20 16 0.028 8 0 0 1 1 1.146 65011 chr10 50574314 50574314 G A rs183224892 DRGX Synonymous SNV A213A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.13 65012 chr22 40816430 40816430 C T rs148478967 MRTFA Synonymous SNV P344P 0.009 0.008 0 0 11 3 0 0 0 0 0 0 17.7 65013 chr10 112360262 112360262 T C rs112525060 SMC3 Synonymous SNV Y831Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.06 65014 chr1 155162627 155162627 G A rs376608767 MUC1 Nonsynonymous SNV P3L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 65015 chr1 155261709 155261709 G A rs116100695 PKLR Nonsynonymous SNV R486W 0.001 0.003 0.014 1 1 1 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 34 65016 chr9 73028001 73028001 C T rs138055699 KLF9 Nonsynonymous SNV M93I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.54 65017 chr10 44112214 44112214 C T rs7478426 ZNF485 Synonymous SNV P150P 0.108 0.078 0.102 25 127 30 0.064 30 7 1 2 1 12.88 65018 chr10 105792706 105792706 G T rs770139408 COL17A1 Nonsynonymous SNV P1439T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.9 65019 chr10 44112763 44112763 C G rs7069748 ZNF485 Synonymous SNV A333A 0.1 0.076 0.095 24 117 29 0.062 28 7 1 2 1 12.67 65020 chr22 42464570 42464570 G A rs147528904 NAGA Synonymous SNV L9L 0.014 0.023 0.01 1 17 9 0.003 3 1 0 0 0 Benign/Likely benign 8.783 65021 chrX 129147264 129147264 T C rs36043572 BCORL1 Synonymous SNV N172N 0.003 0 0.01 5 4 0 0.013 3 1 0 0 2 Benign/Likely benign 0.078 65022 chr1 156280946 156280946 C T rs758436442 CCT3 Nonsynonymous SNV R361H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 65023 chr10 106074975 106074975 G T ITPRIP Nonsynonymous SNV P279T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 65024 chr10 46999289 46999289 C T rs140859626 GPRIN2 Nonsynonymous SNV R137W 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 20.8 65025 chr10 52587964 52587964 G A rs143315865 A1CF Synonymous SNV I232I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.64 65026 chrX 140994067 140994171 AGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAC - MAGEC1 P302_S336del 0.018 0.031 0.01 9 21 12 0.023 3 6 4 1 4 65027 chr1 156639276 156639276 C T rs60243118 NES Synonymous SNV P1568P 0.019 0.018 0.007 4 22 7 0.01 2 1 0 0 0 11.46 65028 chr10 116057027 116057027 C T rs139572626 AFAP1L2 Synonymous SNV T670T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.12 65029 chr1 156640933 156640933 C T rs2365718 NES Nonsynonymous SNV S1016N 0.02 0.021 0.014 4 24 8 0.01 4 1 0 1 0 19.95 65030 chr10 55582127 55582127 G A rs61862390 PCDH15 Nonsynonymous SNV P1747S 0.009 0.01 0 4 10 4 0.01 0 0 1 0 0 Benign/Likely benign 8.424 65031 chr10 117027870 117027870 C T rs114097459 ATRNL1 Synonymous SNV C683C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.78 65032 chr22 45127662 45127662 C T rs199883341 PRR5 Synonymous SNV D30D 0.009 0.003 0.01 0 10 1 0 3 0 0 0 0 14.03 65033 chr9 79321353 79321353 C T rs200041998 PRUNE2 Nonsynonymous SNV G1946D 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Likely benign 10.22 65034 chrX 150909307 150909307 G T rs35350051 CNGA2 Nonsynonymous SNV W139L 0.105 0.055 0.105 37 123 21 0.095 31 34 4 9 11 14.14 65035 chr10 60148453 60148453 G A rs139514719 TFAM Synonymous SNV A105A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.391 65036 chr10 50121553 50121553 G A rs145432675 LRRC18 Synonymous SNV N216N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.021 65037 chr22 45914634 45914634 C T rs772445995 FBLN1 Nonsynonymous SNV S51L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 65038 chr10 6525521 6525521 C T rs34524148 PRKCQ Nonsynonymous SNV D229N 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 3.753 65039 chr22 45996280 45996280 G A rs138312931 FBLN1 Nonsynonymous SNV R689Q 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 27.2 65040 chr22 46930004 46930004 G A rs372128480 CELSR1 Nonsynonymous SNV R1022C 0.008 0.003 0 0 9 1 0 0 0 0 0 0 11.5 65041 chr10 121429645 121429645 G A rs61756328 BAG3 Nonsynonymous SNV A155T 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.614 65042 chr10 117971148 117971148 T G GFRA1 Nonsynonymous SNV Q143P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 65043 chr9 88938345 88938345 C A rs761801797 TUT7 Nonsynonymous SNV V651F 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 2.196 65044 chr9 90255351 90255351 G C DAPK1 Synonymous SNV L256L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.93 65045 chr9 90322200 90322200 G T rs36220450 DAPK1 Nonsynonymous SNV G1405V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.1 65046 chr22 50187853 50187853 C T rs35331092 BRD1 Nonsynonymous SNV A725T 0.074 0.057 0.088 30 87 22 0.077 26 2 0 1 6 18.09 65047 chr9 90501877 90501877 C T rs34868703 SPATA31E1 Synonymous SNV S825S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.545 65048 chr10 118310690 118310690 G A rs147151438 PNLIP Synonymous SNV S135S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.813 65049 chr1 158590245 158590245 C G rs186987240 SPTA1 Synonymous SNV L2044L 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.71 65050 chr10 64967249 64967249 T A rs139881253 JMJD1C Nonsynonymous SNV T1175S 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 Likely benign 7.753 65051 chr10 50835807 50835807 G A rs75262191 CHAT Nonsynonymous SNV E245K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 19.52 65052 chr22 50320943 50320943 C T rs1608 CRELD2 Synonymous SNV R322R 0.098 0.068 0.109 39 115 26 0.1 32 4 1 0 6 11.18 65053 chr9 95177617 95177617 A G OMD Synonymous SNV Y361Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.089 65054 chr10 123846703 123846703 C G rs141300976 TACC2 Nonsynonymous SNV P1563R 0.012 0.005 0.003 6 14 2 0.015 1 0 0 0 0 Benign 0.054 65055 chr9 96428335 96428335 C T rs139699684 PHF2 Nonsynonymous SNV A727V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.48 65056 chr1 158724650 158724650 T A rs148092938 OR6K6 Nonsynonymous SNV S15R 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 13.68 65057 chr1 23222913 23222913 G A EPHB2 Synonymous SNV G569G 0.003 0 0 0 3 0 0 0 0 0 0 0 13.11 65058 chr10 5415870 5415870 C T rs200179226 UCN3 Nonsynonymous SNV R63C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 65059 chr22 50665478 50665478 C T rs750355124 TUBGCP6 Nonsynonymous SNV A481T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Uncertain significance 0.16 65060 chr1 23291869 23291869 G A rs567091931 LACTBL1 Nonsynonymous SNV P21L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.849 65061 chr10 12209748 12209748 T C NUDT5 Nonsynonymous SNV K202E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.922 65062 chr10 54529019 54529019 G A rs188107846 MBL2 Nonsynonymous SNV R121C 0 0.005 0 0 0 2 0 0 0 0 0 0 12.94 65063 chr1 159175494 159175494 C T rs34599082 ACKR1 Nonsynonymous SNV R91C 0.014 0.013 0.02 7 16 5 0.018 6 0 0 0 0 Pathogenic 24.2 65064 chr1 159175527 159175527 G A rs13962 ACKR1 Nonsynonymous SNV A102T 0.1 0.104 0.126 45 117 40 0.115 37 4 1 1 4 9.049 65065 chr9 98734519 98734519 C T rs188610453 ERCC6L2 Nonsynonymous SNV T840I 0.016 0.013 0.003 3 19 5 0.008 1 0 0 0 0 13.04 65066 chr10 70765671 70765671 G T KIFBP Nonsynonymous SNV K263N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 65067 chr1 160000703 160000703 T C rs368135991 PIGM Nonsynonymous SNV Y276C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 65068 chrX 29417373 29417373 A C rs775759727 IL1RAPL1 Nonsynonymous SNV E217D 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Uncertain significance 21.8 65069 chr10 127496038 127496038 T A rs117926090 UROS Nonsynonymous SNV D113V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 15.08 65070 chr10 124266308 124266308 C T rs149294320 HTRA1 Synonymous SNV T293T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.02 65071 chr10 124339378 124339378 A G rs1969620 DMBT1 Nonsynonymous SNV N322D 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 21.3 65072 chr10 61833170 61833170 G A rs140741466 ANK3 Nonsynonymous SNV P2490L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.06 65073 chr10 61833414 61833414 A G rs148904927 ANK3 Nonsynonymous SNV S2409P 0.005 0.008 0.014 0 6 3 0 4 0 0 0 0 Benign/Likely benign 25.4 65074 chr10 63520736 63520736 C G CABCOCO1 Nonsynonymous SNV T176R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 65075 chrX 105449709 105449709 G A rs12392298 PWWP3B Nonsynonymous SNV G95D 0.008 0.005 0 2 9 2 0.005 0 3 0 0 0 0.463 65076 chr10 63957987 63957987 C G rs373658076 RTKN2 Nonsynonymous SNV A504P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 65077 chr10 73571179 73571179 T C rs770888523 CDH23 Nonsynonymous SNV M822T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.88 65078 chrX 106061970 106061970 C A rs143630640 TBC1D8B Nonsynonymous SNV P70T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 65079 chr10 72300890 72300890 C T rs757426491 PALD1 Synonymous SNV A647A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.28 65080 chrX 107037547 107037547 A G rs372585299 NCBP2L Nonsynonymous SNV K33E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.835 65081 chr10 75849921 75849921 T C rs71579355 VCL Synonymous SNV S439S 0.018 0.008 0 7 21 3 0.018 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.138 65082 chrX 107413930 107413930 G A rs2295912 COL4A6 Synonymous SNV A1134A 0.015 0.023 0.024 6 18 9 0.015 7 4 3 2 0 Benign 8.551 65083 chr10 72537086 72537086 C T rs4747099 TBATA Synonymous SNV E172E 0.022 0.023 0.027 3 26 9 0.008 8 1 0 0 0 8.263 65084 chrX 107844666 107844666 G T rs34077552 COL4A5 Nonsynonymous SNV K664N 0.005 0.018 0 1 6 7 0.003 0 2 3 0 0 Benign 8.494 65085 chr1 16264092 16264092 T A SPEN Synonymous SNV S3487S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.866 65086 chr1 16332665 16332665 C T rs34950166 SRARP Nonsynonymous SNV L112F 0.017 0.008 0.027 9 20 3 0.023 8 0 0 0 0 10.73 65087 chrX 48398231 48398231 C T rs202134988 TBC1D25 Nonsynonymous SNV P16S 0.003 0.005 0 0 4 2 0 0 2 0 0 0 19 65088 chr1 16464919 16464919 G A rs35484156 EPHA2 Nonsynonymous SNV S223L 0.001 0.005 0.007 3 1 2 0.008 2 0 0 0 0 Benign 18.04 65089 chrX 110987953 110987953 - ACC rs797044689 ALG13 P945_A946insP 0.021 0.034 0 8 25 13 0.021 0 3 4 0 2 65090 chr10 48388013 48388013 G A rs148030338 RBP3 Synonymous SNV A955A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.415 65091 chrX 114863593 114863593 T A rs140121121 PLS3 Synonymous SNV G107G 0.012 0.016 0.034 9 14 6 0.023 10 2 1 3 3 Benign 7.931 65092 chr10 49951409 49951409 C G WDFY4 Nonsynonymous SNV R759G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.053 65093 chrX 15270452 15270452 A G rs61751424 ASB9 Synonymous SNV N119N 0.023 0.023 0.007 9 27 9 0.023 2 8 2 1 4 0.007 65094 chr10 50018765 50018765 G A rs61742644 WDFY4 Nonsynonymous SNV V1677M 0.032 0.031 0.031 14 37 12 0.036 9 1 0 0 0 4.781 65095 chr1 16531263 16531263 C T rs61749279 ARHGEF19 Nonsynonymous SNV R633Q 0.009 0.016 0.037 10 11 6 0.026 11 1 0 0 0 Benign 23.8 65096 chr1 27622847 27622847 C A rs140726657 WDTC1 Synonymous SNV R302R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.9 65097 chr1 27706621 27706621 G A rs142703194 CD164L2 Synonymous SNV V146V 0.016 0.01 0.003 2 19 4 0.005 1 0 1 0 0 12.74 65098 chr10 75519551 75519551 T C rs199624470 SEC24C Synonymous SNV F160F 0.002 0.008 0 0 2 3 0 0 0 0 0 0 10.57 65099 chrX 19025428 19025428 C T rs12847500 ADGRG2 Synonymous SNV S500S 0.029 0.016 0.01 11 34 6 0.028 3 9 1 1 3 17.96 65100 chr1 27877301 27877301 G A rs188125472 AHDC1 Synonymous SNV G442G 0.014 0.01 0.007 1 17 4 0.003 2 0 1 0 0 2.529 65101 chrX 23723975 23723975 C A rs763233076 ACOT9 Nonsynonymous SNV K212N 0.009 0.005 0 1 10 2 0.003 0 3 0 0 0 23 65102 chr1 166958607 166958607 C G rs113297248 MAEL Synonymous SNV A6A 0.022 0.036 0.024 9 26 14 0.023 7 0 0 0 0 12.2 65103 chr1 167038171 167038171 G C rs747826424 GPA33 Nonsynonymous SNV L135V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 65104 chr10 134563101 134563101 G A rs143990293 INPP5A Synonymous SNV S207S 0.009 0.005 0.014 6 11 2 0.015 4 0 0 0 0 Benign 14.77 65105 chrX 125955199 125955199 T C rs4289953 PRR32 Nonsynonymous SNV M193T 0.04 0.052 0.048 26 47 20 0.067 14 9 5 6 9 22.9 65106 chr1 28793041 28793041 G A rs11539548 PHACTR4 Synonymous SNV T205T 0.051 0.055 0.078 15 60 21 0.038 23 1 0 0 0 2.913 65107 chrX 30260606 30260606 G A rs61744023 MAGEB4 Synonymous SNV Q118Q 0.014 0.01 0.01 4 16 4 0.01 3 4 0 0 1 Benign 1.156 65108 chr1 28800277 28800277 C A rs36099122 PHACTR4 Synonymous SNV P355P 0.051 0.055 0.075 15 60 21 0.038 22 1 0 0 0 1.064 65109 chrX 129147373 129147373 G A rs5932715 BCORL1 Nonsynonymous SNV G209S 0.06 0.052 0.031 17 70 20 0.044 9 21 6 2 3 4.983 65110 chr10 71871347 71871347 G T rs149708840 MACROH2A2 Nonsynonymous SNV A343S 0.004 0.01 0.003 2 5 4 0.005 1 0 1 0 0 6.346 65111 chr10 71902561 71902561 C G TYSND1 Nonsynonymous SNV G449A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 65112 chr10 7213927 7213927 C T rs201963815 SFMBT2 Nonsynonymous SNV R782H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26.2 65113 chr10 76859006 76859006 A C rs3740314 DUSP13 Nonsynonymous SNV F64V 0.052 0.089 0 27 61 34 0.069 0 0 1 0 2 13.83 65114 chr10 76859104 76859104 G A rs3740313 DUSP13 Nonsynonymous SNV P31L 0.052 0.089 0 27 61 34 0.069 0 0 1 0 2 7.487 65115 chrX 41333984 41333984 G A rs768631690 NYX Synonymous SNV P426P 0.007 0.01 0.007 0 8 4 0 2 2 1 1 0 Likely benign 0.033 65116 chr10 72462080 72462080 C T rs34022601 ADAMTS14 Nonsynonymous SNV R179C 0.002 0.008 0 0 2 3 0 0 0 1 0 0 35 65117 chrX 132160064 132160064 G A USP26 Nonsynonymous SNV P729S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.074 65118 chrX 133930152 133930152 T C rs148497727 FAM122B Synonymous SNV L28L 0 0.005 0 1 0 2 0.003 0 0 1 0 0 1.856 65119 chrX 133988253 133988253 A G rs5975480 FAM122C Nonsynonymous SNV Q192R 0.06 0.052 0.014 28 71 20 0.072 4 17 4 0 8 0.001 65120 chrX 134494512 134494512 T C rs45461393 ZNF449 Synonymous SNV C356C 0.053 0.065 0.068 30 62 25 0.077 20 17 7 6 8 0.177 65121 chr1 169563951 169563951 T G rs6136 SELP Nonsynonymous SNV T756P 0.055 0.07 0.058 23 65 27 0.059 17 2 1 1 0 Benign 0.414 65122 chr10 82298130 82298130 C G rs577059009 SH2D4B Nonsynonymous SNV L15V 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 23.4 65123 chr1 33116103 33116103 C A rs145261649 ZBTB8OS Nonsynonymous SNV D22Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.1 65124 chrX 95993666 95993666 G A rs20374 DIAPH2 Nonsynonymous SNV A83T 0.01 0.01 0.007 5 12 4 0.013 2 1 2 1 1 Benign 19.49 65125 chrX 9862731 9862731 G A rs74461072 SHROOM2 Synonymous SNV S261S 0.01 0.008 0.02 2 12 3 0.005 6 4 1 2 0 7.4 65126 chr10 14909255 14909255 T C rs61751214 HSPA14 Synonymous SNV S389S 0.023 0.026 0.007 8 27 10 0.021 2 2 2 0 0 Benign 0.082 65127 chrX 138686878 138686878 G A rs61751333 MCF2 Nonsynonymous SNV H530Y 0.019 0.018 0.017 10 22 7 0.026 5 4 3 2 3 6.838 65128 chrY 14930454 14930454 G C rs774466018 USP9Y Nonsynonymous SNV G1644R 0.01 0.021 0.007 8 12 8 0.021 2 6 4 1 4 22.9 65129 chr10 90699469 90699469 A G rs776041033 ACTA2-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 11.71 65130 chr10 17087074 17087074 C T rs141740096 CUBN Nonsynonymous SNV A1202T 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.08 65131 chrX 140714079 140714079 A C LOC645188 Nonsynonymous SNV E3A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.37 65132 chrX 70146475 70146475 G C rs6525447 SLC7A3 Nonsynonymous SNV L508V 0.087 0.102 0.133 24 102 39 0.062 39 27 10 14 8 0.494 65133 chr10 17113479 17113479 G A rs17432826 CUBN Synonymous SNV N857N 0.011 0.01 0.024 3 13 4 0.008 7 0 0 0 0 Likely benign 2.797 65134 chr1 171130599 171130603 ACACA - rs145126383 FMO6P 0 0 0.279 0 0 0 0 82 0 0 10 0 65135 chr10 91404388 91404388 C T rs201927435 PANK1 Synonymous SNV R224R 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 17.93 65136 chr1 35370748 35370748 C T rs369732674 DLGAP3 Synonymous SNV G79G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.57 65137 chrX 78618948 78618948 G A rs35056863 ITM2A Nonsynonymous SNV A72V 0.024 0.026 0.027 3 28 10 0.008 8 8 2 3 1 22.6 65138 chr10 88678961 88678961 T A rs983870066 BMPR1A Nonsynonymous SNV S301T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 12.2 65139 chr10 75185767 75185767 G A rs781742879 MSS51 Nonsynonymous SNV P291S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 23.2 65140 chrX 150869273 150869273 C T rs142444421 PRRG3 Nonsynonymous SNV P155L 0 0.003 0.003 7 0 1 0.018 1 0 0 0 2 15.22 65141 chrX 84363646 84363646 G A rs777426142 SATL1 Nonsynonymous SNV S110L 0.009 0.003 0 0 10 1 0 0 3 0 0 0 16.85 65142 chr10 93741459 93741459 A T BTAF1 Synonymous SNV P605P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.19 65143 chr1 37949052 37949052 G A rs17849897 ZC3H12A Nonsynonymous SNV G547D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 8.043 65144 chr10 101716091 101716091 G A rs373627069 DNMBP Synonymous SNV T380T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.265 65145 chr10 90768680 90768680 G A rs28362318 FAS Synonymous SNV Q123Q 0.008 0.008 0.01 3 9 3 0.008 3 1 0 0 0 Benign/Likely benign 11.25 65146 chr10 91066446 91066446 G C rs41284134 IFIT2 Nonsynonymous SNV G245R 0.02 0.029 0.014 6 23 11 0.015 4 0 0 0 0 Benign 0.011 65147 chr10 91099466 91099466 G C rs140549288 IFIT3 Nonsynonymous SNV V352L 0.02 0.031 0.017 7 24 12 0.018 5 0 0 1 0 Benign 0.001 65148 chr10 91099657 91099657 A G rs17119665 IFIT3 Synonymous SNV P415P 0.032 0.034 0.02 12 38 13 0.031 6 1 0 1 0 0.151 65149 chrX 152991321 152991321 C T rs782724538 ABCD1 Synonymous SNV D200D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.576 65150 chr10 15145464 15145464 A G rs143960260 RPP38 Nonsynonymous SNV R51G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 65151 chr10 21906135 21906135 A G rs146946726 MLLT10 Nonsynonymous SNV K233R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 65152 chrX 101857678 101857678 C T rs55673173 ARMCX5 Synonymous SNV I203I 0.015 0.01 0 2 18 4 0.005 0 7 1 0 0 5.017 65153 chr10 91532480 91532480 G A KIF20B Synonymous SNV K1759K 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.33 65154 chrX 103294687 103294687 C T rs200102787 H2BW2 Synonymous SNV H48H 0.015 0.013 0 5 18 5 0.013 0 6 0 0 2 8.211 65155 chrX 103359423 103359423 C G rs139527148 ZCCHC18 Synonymous SNV P207P 0.035 0.031 0.027 14 41 12 0.036 8 11 3 3 5 7.025 65156 chr10 70066600 70066600 A G rs753221009 PBLD Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 65157 chr10 26505771 26505771 C T rs7919405 GAD2 Synonymous SNV F11F 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 18.42 65158 chrX 117480539 117480539 G A rs187698818 WDR44 Nonsynonymous SNV V25M 0.012 0.01 0.003 1 14 4 0.003 1 4 0 0 0 10.03 65159 chrX 153418468 153418468 G C rs731614 OPN1LW Synonymous SNV V155V 0.009 0.005 0.014 5 11 2 0.013 4 3 0 1 0 8.162 65160 chrX 153649337 153649337 G A rs35902788 TAZ Synonymous SNV G247G 0.014 0.008 0.014 5 16 3 0.013 4 4 1 2 1 Benign/Likely benign 6.993 65161 chr1 41327746 41327746 C A rs141320252 CITED4 Synonymous SNV P18P 0.011 0.023 0.007 6 13 9 0.015 2 0 0 0 0 14.7 65162 chr1 41976529 41976529 C T rs11809423 HIVEP3 Nonsynonymous SNV G2271R 0.068 0.052 0.048 26 80 20 0.067 14 2 0 1 0 Benign 14.78 65163 chr10 70986965 70986965 G C rs771051562 HKDC1 Synonymous SNV V22V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.17 65164 chr10 105809186 105809186 G A rs139559170 COL17A1 Synonymous SNV P736P 0.01 0 0.01 1 12 0 0.003 3 0 0 0 0 Benign 15.17 65165 chr1 180772624 180772624 A G XPR1 Synonymous SNV R108R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.704 65166 chr10 21101765 21101765 G A rs375714953 NEBL Synonymous SNV S154S 0.005 0 0 3 6 0 0.008 0 0 0 0 0 15.27 65167 chr10 21178814 21178814 A G rs374218451 NEBL Nonsynonymous SNV M73T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.28 65168 chr10 21784821 21784821 C G rs374846354 MIR1915HG 0.002 0 0 0 2 0 0 0 0 0 0 0 17.09 65169 chr10 31138078 31138078 G A rs564286076 ZNF438 Nonsynonymous SNV P419L 0.004 0 0 0 5 0 0 0 0 0 0 0 9.33 65170 chr10 99338347 99338347 C T rs140424419 ANKRD2 Synonymous SNV A174A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 13.73 65171 chr1 183849869 183849869 C G rs12140352 RGL1 Nonsynonymous SNV S180C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 31 65172 chrX 32583988 32583988 G A rs189896732 DMD Nonsynonymous SNV A600V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.7 65173 chr10 73122156 73122156 G A rs144517514 SLC29A3 Nonsynonymous SNV V329M 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Uncertain significance 23.8 65174 chr1 44422274 44422274 A C IPO13 Synonymous SNV A335A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.043 65175 chr1 44438171 44438171 G A rs145817429 DPH2 Nonsynonymous SNV R249Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 19.87 65176 chr10 95079636 95079636 G A rs146626145 MYOF Nonsynonymous SNV A1851V 0.012 0.01 0.003 0 14 4 0 1 0 0 0 0 23.8 65177 chr1 186031063 186031063 G A HMCN1 Nonsynonymous SNV E2465K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 65178 chrX 36091379 36091379 A C rs74495781 CFAP47 Nonsynonymous SNV H1530P 0.004 0.016 0.003 3 5 6 0.008 1 1 3 0 1 2.429 65179 chr10 35929140 35929140 G A rs73270586 FZD8 Synonymous SNV F406F 0.018 0.013 0.034 12 21 5 0.031 10 0 0 1 0 2.363 65180 chr10 373048 373048 T C rs2288681 DIP2C Synonymous SNV A1274A 0.051 0.049 0.078 15 60 19 0.038 23 4 0 1 0 0.035 65181 chr10 410493 410493 C T rs147998964 DIP2C Synonymous SNV P766P 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 2.948 65182 chrX 38145089 38145115 TTTCTTCTCCTTCCCCCTCCTTTTCCC - RPGR R1046_E1054del 0 0 0 1 0 0 0.003 0 0 0 0 0 65183 chrX 40495957 40495957 G A rs34678039 CXorf38 Nonsynonymous SNV T91M 0.008 0.008 0.014 1 9 3 0.003 4 3 1 1 0 25 65184 chrX 43661493 43661493 T C rs76703559 MAOB Synonymous SNV P134P 0.001 0 0 3 1 0 0.008 0 0 0 0 1 Benign 5.226 65185 chr1 45798269 45798269 T C rs200872702 MUTYH Nonsynonymous SNV I80V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.6 65186 chr1 19203951 19203951 C T rs41306567 ALDH4A1 Nonsynonymous SNV G306R 0.007 0.003 0.014 3 8 1 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 65187 chr11 1016944 1016944 G T rs761437962 MUC6 Nonsynonymous SNV H1953N 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 12.19 65188 chr11 1016945 1016945 G T rs755255075 MUC6 Synonymous SNV A1952A 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.56 65189 chr1 19446769 19446769 C T rs148941537 UBR4 Synonymous SNV K3405K 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 15.04 65190 chr11 1016954 1016954 G C rs747135109 MUC6 Synonymous SNV T1949T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 0.539 65191 chr1 19473423 19473423 A G UBR4 Synonymous SNV P2567P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.579 65192 chr1 19489077 19489077 T A rs150747540 UBR4 Nonsynonymous SNV H1598L 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 21 65193 chr10 7608016 7608016 G A rs950733359 ITIH5 Nonsynonymous SNV S621F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 65194 chr11 1016961 1016961 G A rs773824783 MUC6 Nonsynonymous SNV T1947I 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 23.1 65195 chr1 46182644 46182644 T C IPP Nonsynonymous SNV D411G 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 65196 chrX 153735766 153735766 G A rs139135137 FAM3A Synonymous SNV F130F 0.009 0.003 0 0 11 1 0 0 3 0 0 0 13.86 65197 chr11 1016970 1016970 C T rs758817830 MUC6 Nonsynonymous SNV S1944N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 22.2 65198 chr10 30318345 30318345 C T rs11813359 JCAD Synonymous SNV T244T 0.011 0.005 0.01 2 13 2 0.005 3 0 0 0 0 8.356 65199 chr10 98346579 98346579 G A rs545375633 TM9SF3 Nonsynonymous SNV P5L 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 12.23 65200 chr10 80968156 80968156 C G ZMIZ1 Nonsynonymous SNV P42A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 22.7 65201 chr1 197074168 197074168 G A rs139367209 ASPM Nonsynonymous SNV R1405C 0.003 0.008 0.007 6 4 3 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 65202 chrX 63412377 63412377 C T rs150929706 AMER1 Nonsynonymous SNV A264T 0 0 0.007 3 0 0 0.008 2 0 0 1 0 not provided 0.312 65203 chr1 197398648 197398648 C T rs140648074 CRB1 Nonsynonymous SNV L804F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.89 65204 chr1 198725059 198725059 G A rs150672767 PTPRC Nonsynonymous SNV V1063I 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 65205 chr10 99219987 99219987 G C rs142884935 MMS19 Synonymous SNV L726L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.079 65206 chrX 67935143 67935143 G A rs113844182 STARD8 Synonymous SNV S53S 0.003 0.005 0.014 1 4 2 0.003 4 1 1 1 0 11.17 65207 chrX 67938302 67938304 GAA - rs746829765 STARD8 E437del 0 0 0 1 0 0 0.003 0 0 0 0 0 65208 chrX 67938392 67938392 C T rs58255923 STARD8 Nonsynonymous SNV P466S 0.004 0.005 0.014 1 5 2 0.003 4 1 1 1 0 0.14 65209 chr10 101673711 101673711 T A rs768357209 DNMBP Synonymous SNV A41A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.41 65210 chrX 69772000 69772000 A G rs16991177 TEX11 Synonymous SNV D832D 0.041 0.063 0.034 13 48 24 0.033 10 12 6 3 3 0.404 65211 chr1 48260410 48260410 G C rs545430601 TRABD2B Nonsynonymous SNV T279S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.4 65212 chrX 69890301 69890301 C T rs4844247 TEX11 Nonsynonymous SNV E436K 0.028 0.042 0.027 6 33 16 0.015 8 8 6 3 1 1.915 65213 chrX 71425235 71425235 C T rs142136151 ERCC6L Nonsynonymous SNV E1128K 0.01 0.003 0.003 4 12 1 0.01 1 3 0 0 0 15.88 65214 chr1 52841123 52841123 G A rs759870248 ORC1 Nonsynonymous SNV S761L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 65215 chr11 10014085 10014085 T C rs79470805 SBF2 Synonymous SNV A391A 0.019 0.021 0.017 9 22 8 0.023 5 1 0 0 0 Benign 8.916 65216 chrX 73963917 73963917 G A rs149980277 NEXMIF Nonsynonymous SNV P159S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 65217 chr11 1015798 1015798 C A rs745329337 MUC6 Nonsynonymous SNV V2335L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 9.114 65218 chr10 102770396 102770396 C A rs759725715 PDZD7 Nonsynonymous SNV W750C 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 Uncertain significance 21.2 65219 chr10 45956828 45956828 G A rs3764990 MARCHF8 Nonsynonymous SNV P92S 0.021 0.029 0.041 13 25 11 0.033 12 0 0 1 0 24.6 65220 chr10 88232081 88232081 G A rs33917114 WAPL Synonymous SNV H632H 0.01 0.013 0.007 7 12 5 0.018 2 0 0 0 0 7.93 65221 chr10 88419112 88419112 G A rs142009769 OPN4 Synonymous SNV T229T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.809 65222 chrX 83116204 83116204 G C rs142474490 CYLC1 Nonsynonymous SNV R5T 0.012 0.003 0.041 13 14 1 0.033 12 3 0 4 4 0.885 65223 chrX 84600873 84600873 C G rs147563033 POF1B Nonsynonymous SNV C239S 0.008 0.003 0 3 9 1 0.008 0 3 0 0 1 Benign 0.002 65224 chr10 88447027 88447027 T C rs71473272 LDB3 Synonymous SNV S182S 0.011 0.01 0.007 5 13 4 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.949 65225 chr1 54060428 54060428 C T rs143379552 GLIS1 Nonsynonymous SNV G50S 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 Benign 20.4 65226 chrX 9863031 9863031 G T SHROOM2 Synonymous SNV R361R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.276 65227 chrX 9907376 9907376 C T rs144736449 SHROOM2 Synonymous SNV S262S 0.002 0 0 3 2 0 0.008 0 0 0 0 1 11.7 65228 chr10 89472987 89472987 C A PAPSS2 Nonsynonymous SNV R101S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 65229 chr10 125521435 125521435 T C rs112981683 CPXM2 Nonsynonymous SNV K577R 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 15.38 65230 chr10 105759018 105759018 G A rs55977639 SLK Synonymous SNV V243V 0.019 0.013 0.007 6 22 5 0.015 2 0 0 0 0 11.04 65231 chr11 102593266 102593266 C T rs112188995 MMP8 Nonsynonymous SNV E81K 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Likely benign 24.6 65232 chr1 202842935 202842935 C T rs3795590 LOC148709 0 0 0.224 0 0 0 0 66 0 0 22 0 6.949 65233 chr10 55587245 55587245 T G rs774100942 PCDH15 Synonymous SNV A1354A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Uncertain significance 9.068 65234 chr1 202989965 202989965 C T rs145911054 TMEM183A Nonsynonymous SNV R275C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 65235 chr10 47000193 47000193 G A rs782444605 GPRIN2 Nonsynonymous SNV R438Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 65236 chr11 1030583 1030583 G C rs369364495 MUC6 Synonymous SNV P294P 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 1.344 65237 chr10 105900732 105900732 C T rs45618238 CFAP43 Synonymous SNV Q1433Q 0.007 0.01 0.007 6 8 4 0.015 2 0 0 0 0 11.4 65238 chr1 57140070 57140070 A G rs55717918 PRKAA2 Synonymous SNV L37L 0.029 0.016 0.02 11 34 6 0.028 6 0 0 0 0 7.942 65239 chr1 57409459 57409459 C A rs139498867 C8B Nonsynonymous SNV D382Y 0.008 0.003 0.017 2 9 1 0.005 5 1 0 0 0 Likely benign 28.2 65240 chr1 203743798 203743798 C T rs41264261 LAX1 Nonsynonymous SNV P380S 0.01 0.021 0.014 2 12 8 0.005 4 0 0 0 0 23 65241 chr11 1025316 1025316 G T rs200656236 MUC6 Nonsynonymous SNV P951T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.489 65242 chr10 49659172 49659172 C T rs746211181 ARHGAP22 Nonsynonymous SNV V244I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.89 65243 chr1 204172060 204172060 G C rs6689599 GOLT1A Synonymous SNV L27L 0.072 0.042 0.085 32 85 16 0.082 25 3 1 0 1 5.7 65244 chr1 204172096 204172096 G A rs6689607 GOLT1A Synonymous SNV T15T 0.071 0.042 0.085 32 83 16 0.082 25 3 1 0 1 12.09 65245 chr10 102775529 102775529 C T rs112571971 PDZD7 Nonsynonymous SNV G538E 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign/Likely benign 10.41 65246 chr10 61802477 61802477 C T rs141939315 ANK3 Nonsynonymous SNV R993Q 0.02 0.018 0.007 3 24 7 0.008 2 1 0 0 0 Benign/Likely benign 35 65247 chr11 107673869 107673869 A G rs199857798 SLC35F2 Nonsynonymous SNV V266A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.73 65248 chr10 103917203 103917203 G A rs907473117 NOLC1 Nonsynonymous SNV R111Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.064 65249 chr1 205353492 205353492 A C rs2274702 LEMD1 Nonsynonymous SNV W50G 0.043 0.044 0.041 9 51 17 0.023 12 2 0 0 0 1.94 65250 chr10 13154572 13154572 A G rs113811959 OPTN Synonymous SNV E163E 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.529 65251 chr1 205385412 205385412 A G rs16855539 LEMD1 Nonsynonymous SNV I32T 0.021 0.01 0.014 5 25 4 0.013 4 0 0 0 0 17.05 65252 chr10 105198530 105198530 T C rs41287498 PDCD11 Synonymous SNV Y1330Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.004 65253 chr11 10651134 10651134 C T rs112262864 MRVI1 Synonymous SNV L166L 0 0.005 0 0 0 2 0 0 0 0 0 0 13.49 65254 chr1 65303677 65303677 T C rs200974543 JAK1 Synonymous SNV K1026K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.84 65255 chr11 1093452 1093452 G A rs34136803 MUC2 Synonymous SNV P1757P 0.005 0.01 0.051 2 6 4 0.005 15 0 0 0 0 5.475 65256 chr10 105372923 105372923 C T rs41287516 SH3PXD2A Synonymous SNV A196A 0.011 0.003 0 4 13 1 0.01 0 0 0 0 0 16.79 65257 chr10 115905407 115905407 T C rs149528243 CCDC186 Synonymous SNV K334K 0.009 0.008 0 0 10 3 0 0 0 0 0 0 0.888 65258 chr10 115980422 115980422 G C rs7914059 TDRD1 Nonsynonymous SNV V864L 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 8.193 65259 chr1 66834595 66834595 G A rs114211692 PDE4B Synonymous SNV R424R 0.015 0.01 0 12 18 4 0.031 0 0 0 0 0 Benign 9.597 65260 chr11 107224415 107224415 A G rs35543671 CWF19L2 Synonymous SNV F640F 0.012 0.01 0.003 2 14 4 0.005 1 0 0 0 0 0.616 65261 chr1 207975949 207975949 T C rs56075814 MIR29B2CHG 0 0 0.119 0 0 0 0 35 0 0 1 0 6.694 65262 chr1 207992546 207992546 G A rs12123251 LOC148696 0 0 0.224 0 0 0 0 66 0 0 5 0 14.47 65263 chr11 111156523 111156523 G T rs74649813 C11orf53 Nonsynonymous SNV W204L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25 65264 chr1 67327894 67327894 A G rs34182923 WDR78 Synonymous SNV S344S 0.012 0.008 0.014 7 14 3 0.018 4 0 0 0 0 0.696 65265 chr11 1075832 1075832 G T rs67387045 MUC2 Nonsynonymous SNV E86D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 65266 chr11 111167003 111167003 C T rs61764070 COLCA1 Synonymous SNV K67K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.08 65267 chr11 107920766 107920766 A G rs77918129 CUL5 Synonymous SNV S128S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.775 65268 chr1 20974837 20974837 C - rs148894314 PINK1-AS 0 0 0.058 0 0 0 0 17 0 0 1 0 65269 chr11 108098610 108098610 T G rs786201375 ATM Synonymous SNV V60V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.25 65270 chr10 99400705 99400705 C T rs868850846 PI4K2A Nonsynonymous SNV A69V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 65271 chr10 105824243 105824243 G A rs771954901 COL17A1 Nonsynonymous SNV T240I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.6 65272 chr10 134726261 134726261 A C rs200571172 CFAP46 Nonsynonymous SNV I799M 0.009 0.01 0.017 6 11 4 0.015 5 0 0 0 0 18.28 65273 chr10 106075218 106075218 C T rs899676080 ITPRIP Nonsynonymous SNV E198K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 65274 chr1 68948280 68948280 A C rs3790479 DEPDC1 Nonsynonymous SNV I404R 0.045 0.036 0.034 20 53 14 0.051 10 3 0 0 1 3.796 65275 chr10 99969498 99969498 G C rs148867373 R3HCC1L Nonsynonymous SNV V543L 0.02 0.029 0.017 9 23 11 0.023 5 0 0 0 0 4.411 65276 chr1 68960349 68960349 T C rs78030459 DEPDC1 Synonymous SNV A26A 0.044 0.036 0.007 20 52 14 0.051 2 3 0 1 1 5.091 65277 chr1 70300517 70300517 C T rs35373978 LRRC7 Synonymous SNV D186D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.23 65278 chr10 118236610 118236610 T A rs2116286 PNLIPRP3 Nonsynonymous SNV F450Y 0.015 0.013 0.014 4 18 5 0.01 4 0 0 0 0 25.3 65279 chr10 106802841 106802841 G A rs140617490 SORCS3 Nonsynonymous SNV R328Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.4 65280 chr1 71440054 71440054 G A PTGER3 Synonymous SNV N365N 0.003 0 0 0 3 0 0 0 0 0 0 0 21 65281 chr11 102584135 102584135 G A rs35231465 MMP8 Stop gain Q450X 0.02 0.021 0.017 6 23 8 0.015 5 0 0 0 0 Likely benign 23.4 65282 chr11 10876434 10876434 T C rs769183769 ZBED5 Nonsynonymous SNV N20S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 65283 chr10 118310705 118310705 C T rs138720920 PNLIP Synonymous SNV I140I 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 11.69 65284 chr1 211840519 211840519 C G rs776872046 NEK2 Nonsynonymous SNV R347T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 65285 chr11 1093167 1093167 A C rs12574966 MUC2 Synonymous SNV T1662T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.001 65286 chr10 119305282 119305282 C A rs424112 EMX2 Synonymous SNV A182A 0.003 0 0 0 4 0 0 0 0 0 0 0 22 65287 chr10 115374621 115374621 C T rs139118719 NRAP Nonsynonymous SNV A1019T 0.023 0.01 0.014 10 27 4 0.026 4 0 0 0 0 Likely benign 23.6 65288 chr11 1016802 1016802 T A rs77342817 MUC6 Nonsynonymous SNV H2000L 0.043 0.049 0.024 16 51 19 0.041 7 0 0 0 0 14.5 65289 chr11 1016810 1016810 G T rs75998609 MUC6 Synonymous SNV T1997T 0.036 0.042 0.024 9 42 16 0.023 7 0 0 0 0 3.403 65290 chr10 61828954 61828954 G A rs7923682 ANK3 Synonymous SNV S3895S 0.018 0.018 0.02 11 21 7 0.028 6 0 0 1 0 Likely benign 0.019 65291 chr10 13699420 13699420 G A rs761060429 FRMD4A Synonymous SNV N414N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.949 65292 chr1 82432184 82432184 G T rs141656433 ADGRL2 Nonsynonymous SNV R730L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 22.8 65293 chr11 116652892 116652892 A T rs11550892 ZPR1 Nonsynonymous SNV F333L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.4 65294 chr10 64952834 64952834 C T rs34825545 JMJD1C Synonymous SNV P1761P 0.006 0.01 0 0 7 4 0 0 0 0 0 0 Benign 12.27 65295 chr10 74114536 74114536 C G rs142855784 DNAJB12 Synonymous SNV T40T 0.014 0.008 0.02 4 16 3 0.01 6 0 0 1 0 14.81 65296 chr10 75013891 75013891 G A rs145830698 DNAJC9-AS1 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 12.63 65297 chr1 220180648 220180648 A G rs148863776 EPRS1 Synonymous SNV Y546Y 0.007 0.013 0.017 3 8 5 0.008 5 0 0 0 0 8.002 65298 chr1 220242730 220242730 G A rs34136285 BPNT1 Synonymous SNV T71T 0.005 0.016 0.01 5 6 6 0.013 3 0 0 0 0 12.94 65299 chr10 17373518 17373518 T C rs45579542 ST8SIA6 Synonymous SNV Q137Q 0.039 0.031 0.044 16 46 12 0.041 13 3 0 0 0 4.692 65300 chr1 221509332 221509332 G A rs4382729 C1orf140 0 0 0.126 0 0 0 0 37 0 0 3 0 9.029 65301 chr10 118434709 118434709 G A rs199807148 HSPA12A Synonymous SNV Y537Y 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 0.189 65302 chr10 118641116 118641116 T C rs112447423 ENO4 Nonsynonymous SNV L605P 0.009 0 0.007 7 11 0 0.018 2 0 0 0 0 0.751 65303 chr10 19780551 19780551 A G rs35934077 MALRD1 Nonsynonymous SNV D1712G 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 Benign 23.6 65304 chr10 79769658 79769658 T A rs376753355 POLR3A Nonsynonymous SNV K578N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.1 65305 chr1 223176549 223176549 G A rs375851211 DISP1 Nonsynonymous SNV A604T 0 0 0.007 0 0 0 0 2 0 0 0 0 20.5 65306 chr10 22605364 22605365 TG - COMMD3, COMMD3-BMI1 V7Afs*72 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 65307 chr11 11941765 11941765 T C rs35044288 USP47 Synonymous SNV C276C 0.034 0.023 0.051 13 40 9 0.033 15 0 0 0 1 2.473 65308 chr1 224415342 224415342 A G rs41271483 NVL Nonsynonymous SNV S664P 0.026 0.016 0.01 5 30 6 0.013 3 0 0 0 0 17.46 65309 chr11 11976691 11976691 T C rs17378597 USP47 Synonymous SNV D1223D 0.034 0.023 0.051 13 40 9 0.033 15 0 0 0 1 6.36 65310 chr10 71582128 71582128 T A rs768896398 COL13A1 Nonsynonymous SNV W100R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 65311 chr10 123844036 123844036 C G rs148637680 TACC2 Nonsynonymous SNV P674R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 9.578 65312 chr10 72292400 72292400 C G rs146140803 PALD1 Nonsynonymous SNV S219R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.852 65313 chr1 92568089 92568089 A G rs17131602 BTBD8 Nonsynonymous SNV K136R 0.02 0.01 0.027 6 23 4 0.015 8 0 0 0 0 11.85 65314 chr11 113215124 113215124 C T rs17115380 TTC12 Synonymous SNV S347S 0.003 0.016 0 9 4 6 0.023 0 0 0 0 0 13.75 65315 chr11 118765087 118765087 C T rs2230321 CXCR5 Synonymous SNV V233V 0.016 0.018 0.007 12 19 7 0.031 2 1 0 0 0 8.762 65316 chr1 226026377 226026377 C A rs112721617 EPHX1 Nonsynonymous SNV H129Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 24.6 65317 chr1 226109287 226109287 G A rs199945116 PYCR2 Nonsynonymous SNV R126C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 65318 chr10 124335915 124335915 G C DMBT1 Nonsynonymous SNV G95A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.193 65319 chr10 124377661 124377661 G A rs189221852 DMBT1 Nonsynonymous SNV V917M 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 26.9 65320 chr10 3145991 3145991 G A rs146112401 PFKP Nonsynonymous SNV V132M 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 6.923 65321 chr10 133795332 133795332 C G rs115488341 BNIP3 Synonymous SNV S58S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 65322 chr1 227935835 227935835 T A rs149727487 SNAP47 Nonsynonymous SNV L133Q 0.006 0.013 0.007 8 7 5 0.021 2 0 0 0 0 25.1 65323 chr1 95368998 95368998 T C rs35493443 CNN3 Nonsynonymous SNV N47S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.8 65324 chr10 134017415 134017415 G A rs78238627 DPYSL4 Synonymous SNV S537S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.54 65325 chr10 134040319 134040319 G A rs74161742 STK32C Synonymous SNV R221R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 2.877 65326 chr10 94109550 94109550 T C rs140663239 MARCHF5 Synonymous SNV L226L 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 4.602 65327 chr1 100346327 100346327 G T rs141944878 AGL Synonymous SNV T625T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.672 65328 chr10 134218457 134218457 G A rs373844418 PWWP2B Synonymous SNV T151T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.934 65329 chr11 1020132 1020132 G C MUC6 Nonsynonymous SNV P1256A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 65330 chr10 32573963 32573963 T C rs73245648 EPC1 Synonymous SNV R469R 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 1.077 65331 chr10 32580219 32580219 T C rs73245661 EPC1 Nonsynonymous SNV M283V 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 10.44 65332 chr1 228456397 228456397 C T rs185629086 OBSCN Synonymous SNV A1676A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 65333 chr11 117222691 117222691 C A rs143659874 CEP164 Nonsynonymous SNV P127H 0.003 0.01 0 5 3 4 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 65334 chr1 101427427 101427427 A G rs140829028 SLC30A7 Nonsynonymous SNV R296G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 65335 chr10 75005812 75005812 C A DNAJC9 Synonymous SNV V148V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.25 65336 chr10 134699445 134699445 G A rs767963798 CFAP46 Nonsynonymous SNV A1108V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.88 65337 chr11 117303108 117303108 T C rs76347292 DSCAML1 Synonymous SNV T1713T 0.053 0.049 0.061 19 62 19 0.049 18 3 2 0 0 6.947 65338 chr11 12315838 12315838 A G rs147731149 MICALCL Nonsynonymous SNV N287S 0.007 0.026 0.007 2 8 10 0.005 2 0 0 0 0 0.143 65339 chr11 102585288 102585288 T G rs138686754 MMP8 Synonymous SNV R397R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.4 65340 chr1 108319891 108319891 A G rs17020006 VAV3 Synonymous SNV N136N 0.014 0.021 0.017 1 17 8 0.003 5 0 0 0 0 Benign 3.711 65341 chr10 76865439 76865439 G A rs141536020 DUSP13 Synonymous SNV A185A 0.009 0.013 0.003 7 10 5 0.018 1 1 0 0 0 13.32 65342 chr11 12316344 12316344 - CTCCTCCTCCTC MICALCL P470_T471insPPPP 0.015 0.021 0.003 4 18 8 0.01 1 2 1 0 0 65343 chr10 7751074 7751074 G A ITIH2 Synonymous SNV V94V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.25 65344 chr11 102643718 102643718 G T rs17359286 MMP10 Synonymous SNV I362I 0.018 0.018 0.014 5 21 7 0.013 4 0 0 0 0 7.657 65345 chr10 35896836 35896836 G A rs200962125 GJD4 Nonsynonymous SNV G132D 0.016 0.013 0.007 6 19 5 0.015 2 0 0 0 0 8.507 65346 chr11 118401556 118401556 C T rs140403049 TTC36 Synonymous SNV N73N 0.003 0.016 0.01 1 3 6 0.003 3 0 0 1 0 13.17 65347 chr11 102988504 102988504 A T rs12146610 DYNC2H1 Nonsynonymous SNV Q304L 0.049 0.065 0.054 17 58 25 0.044 16 1 1 2 0 Benign/Likely benign 20.5 65348 chr1 109714604 109714604 A C KIAA1324 Nonsynonymous SNV Y93S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 65349 chr11 103036743 103036743 C G rs72989738 DYNC2H1 Nonsynonymous SNV N1576K 0.037 0.052 0.037 5 43 20 0.013 11 1 0 1 0 Benign 4.92 65350 chr11 118509612 118509612 C G PHLDB1 Nonsynonymous SNV R847G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 65351 chr10 44104135 44104135 G A ZNF485 Nonsynonymous SNV R33Q 0.006 0 0 0 7 0 0 0 0 0 0 0 23.2 65352 chr10 98411293 98411293 G A rs35668691 PIK3AP1 Synonymous SNV A276A 0.023 0.016 0.024 9 27 6 0.023 7 0 0 0 0 Benign 14.41 65353 chr10 46970793 46970793 G A rs752701929 LOC102724488 Nonsynonymous SNV P7L 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 9.571 65354 chr10 98781059 98781059 G T SLIT1 Nonsynonymous SNV D898E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.524 65355 chr1 231299593 231299593 G C rs200729419 TRIM67 Nonsynonymous SNV G293A 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 0.001 65356 chr10 134121297 134121297 G A rs556262993 STK32C Nonsynonymous SNV A14V 0.008 0.003 0.003 3 9 1 0.008 1 1 0 0 0 24.2 65357 chr11 10603483 10603483 G A rs147475878 MRVI1 Nonsynonymous SNV T449I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.231 65358 chr1 231954682 231954682 C T rs2295959 TSNAX-DISC1 0 0 0.095 0 0 0 0 28 0 0 4 0 6.99 65359 chr1 231954872 231954872 C T rs11588937 TSNAX-DISC1 0 0 0.306 0 0 0 0 90 0 0 13 0 2.397 65360 chr1 111060423 111060423 C T rs367703875 KCNA10 Synonymous SNV P329P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.702 65361 chr10 89623716 89623716 G A rs12573787 PTEN Nonsynonymous SNV G4R 0.041 0.031 0 11 48 12 0.028 0 1 0 0 0 Benign 13.24 65362 chr1 111492547 111492547 A G rs2232045 LRIF1 Nonsynonymous SNV S63P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 14.9 65363 chr11 124135688 124135688 C T rs202064362 OR8G5, OR8G1 Synonymous SNV P322P 0.03 0.026 0 3 35 10 0.008 0 0 0 0 0 11.87 65364 chr1 234041317 234041317 C T rs79244900 SLC35F3 Synonymous SNV S32S 0.023 0.034 0.037 5 27 13 0.013 11 0 0 0 0 19.56 65365 chr1 111957525 111957525 G C rs61742558 OVGP1 Nonsynonymous SNV T533S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.15 65366 chr1 234442257 234442257 A T rs877722 MIR4671 0 0 0.092 0 0 0 0 27 0 0 1 0 0.416 65367 chr10 134722049 134722049 C G rs753637047 CFAP46 Synonymous SNV A949A 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 7.678 65368 chr10 90681048 90681048 C T rs34083181 STAMBPL1 Synonymous SNV P350P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 11.91 65369 chr10 134736060 134736060 G T rs41301115 CFAP46 Nonsynonymous SNV T470N 0.011 0.016 0.007 8 13 6 0.021 2 0 0 0 0 0.001 65370 chr10 91162784 91162784 C T rs200260364 IFIT1 Nonsynonymous SNV T251I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.92 65371 chr10 48385983 48385983 C T rs151292277 RBP3 Nonsynonymous SNV V1037M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26 65372 chr1 236154226 236154226 G C rs770413790 NID1 Nonsynonymous SNV T963S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.113 65373 chr1 113162494 113162494 G A rs41283062 CAPZA1 Nonsynonymous SNV D10N 0.028 0.023 0.027 5 33 9 0.013 8 0 0 0 0 25.3 65374 chr1 113616034 113616034 G C rs140301079 LRIG2 Synonymous SNV A2A 0.014 0.008 0 7 16 3 0.018 0 0 0 0 0 Likely benign 13.88 65375 chr11 125489925 125489925 C T rs757234624 STT3A Synonymous SNV D569D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.38 65376 chr11 113141134 113141134 C T rs17115295 NCAM1-AS1 0.014 0.01 0.014 2 17 4 0.005 4 0 0 0 0 7.893 65377 chr1 114442970 114442970 G A rs138216814 AP4B1 Nonsynonymous SNV R56C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 65378 chr1 115277116 115277116 T C rs200868850 CSDE1 Nonsynonymous SNV M146V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.39 65379 chr10 13658436 13658436 G A rs11258476 PRPF18 Synonymous SNV A277A 0.009 0.013 0.007 2 10 5 0.005 2 0 0 0 0 13.98 65380 chr10 13708245 13708245 G A rs7906126 FRMD4A Synonymous SNV D176D 0.008 0.016 0.007 2 9 6 0.005 2 0 0 0 0 5.63 65381 chr11 125871721 125871721 G C rs145983470 CDON Nonsynonymous SNV T684S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign/Likely benign 15.53 65382 chr10 95422373 95422373 T C PDE6C Synonymous SNV I780I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.686 65383 chr1 117635401 117635401 G A rs41306197 TTF2 Nonsynonymous SNV E952K 0.031 0.039 0.02 13 36 15 0.033 6 1 0 0 0 Benign 28.7 65384 chr11 1272038 1272038 C T rs201521453 MUC5B Nonsynonymous SNV P4643L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.487 65385 chr10 53227580 53227580 G A rs1047284968 PRKG1 Synonymous SNV R177R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.381 65386 chr1 2428121 2428121 C T rs149662903 PLCH2 Synonymous SNV A610A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.069 65387 chr11 1017464 1017602 TCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG - MUC6 S1734Pfs*69 0.023 0.003 0.024 6 27 1 0.015 7 0 0 0 0 65388 chr10 55719596 55719596 C A rs41307518 PCDH15 Synonymous SNV V935V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign/Likely benign 17.68 65389 chr10 99094083 99094083 C T rs181573119 FRAT2 Nonsynonymous SNV A83T 0.039 0.031 0.02 19 46 12 0.049 6 11 4 2 2 Benign 23.1 65390 chr10 5784185 5784185 G A rs184573446 TASOR2 Nonsynonymous SNV S737N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 65391 chr10 5788583 5788583 G C rs200675321 TASOR2 Nonsynonymous SNV E986Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 65392 chr10 5790711 5790711 T C rs188774714 TASOR2 Nonsynonymous SNV V1695A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 65393 chr1 246729251 246729251 C T rs143880306 TFB2M Nonsynonymous SNV A64T 0.014 0.023 0.027 3 17 9 0.008 8 1 0 0 0 0.052 65394 chr11 125365418 125365418 C A rs11220100 LOC403312 Nonsynonymous SNV A65E 0.032 0.044 0.031 19 38 17 0.049 9 0 0 0 1 24 65395 chr10 24810808 24810808 T C KIAA1217 Synonymous SNV S485S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.315 65396 chr10 5958347 5958347 C G FBH1 Synonymous SNV T498T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 65397 chr11 14901831 14901831 A G rs200183599 CYP2R1 Nonsynonymous SNV M284T 0.011 0.005 0 7 13 2 0.018 0 0 0 0 0 Uncertain significance 22.8 65398 chr1 247614792 247614792 C T rs139987358 OR2B11 Nonsynonymous SNV V165I 0.003 0.005 0.007 0 3 2 0 2 0 1 0 0 1.573 65399 chr1 150526474 150526474 G A rs142354320 ADAMTSL4 Nonsynonymous SNV G336D 0.004 0.008 0 1 5 3 0.003 0 0 1 0 0 Benign/Likely benign 0.001 65400 chr1 247726936 247726936 A G rs145479022 GCSAML Nonsynonymous SNV K13R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 65401 chr11 17153537 17153537 A C rs145312949 PIK3C2A Nonsynonymous SNV D339E 0.019 0.016 0 8 22 6 0.021 0 0 0 0 0 Uncertain significance 18.09 65402 chr11 134086950 134086950 T C NCAPD3 Nonsynonymous SNV T88A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.015 65403 chr11 13441231 13441231 T G rs754035536 BTBD10 Synonymous SNV P72P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 5.246 65404 chr1 150970120 150970120 T A MINDY1 Nonsynonymous SNV T295S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 65405 chr10 64974156 64974156 T C rs41274072 JMJD1C Nonsynonymous SNV M372V 0.017 0.055 0.014 4 20 21 0.01 4 0 2 0 0 Benign 0.002 65406 chr11 17531156 17531156 T A rs749637571 USH1C Nonsynonymous SNV H587L 0.011 0.003 0 6 13 1 0.015 0 0 0 0 0 17.15 65407 chr10 67680118 67680118 C G CTNNA3 Nonsynonymous SNV M886I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.8 65408 chr11 17531160 17531160 C A USH1C Nonsynonymous SNV G586C 0.012 0.003 0 6 14 1 0.015 0 0 0 0 0 24 65409 chr10 68040240 68040240 G T rs10997034 CTNNA3 Synonymous SNV V624V 0.041 0.049 0.034 12 48 19 0.031 10 1 1 0 0 Benign 7.932 65410 chr11 16863130 16863130 T C rs369819 PLEKHA7 Nonsynonymous SNV Q279R 0.026 0.036 0.02 11 31 14 0.028 6 0 0 0 0 25.8 65411 chr1 151491026 151491026 C T rs144766457 CGN Nonsynonymous SNV R11W 0.012 0.021 0 8 14 8 0.021 0 0 1 0 0 Likely benign 28.9 65412 chr11 1023514 1023514 A T MUC6 Nonsynonymous SNV I1174N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.5 65413 chr1 151787463 151787463 T G rs199793998 RORC Nonsynonymous SNV Q225P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.821 65414 chr11 12315660 12315660 C T rs375396557 MICALCL Nonsynonymous SNV R228C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.27 65415 chr1 152129253 152129253 C T rs143763320 RPTN Nonsynonymous SNV A108T 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.008 65416 chr11 102825003 102825003 G A rs189379640 MMP13 Synonymous SNV G173G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.042 65417 chr11 18735480 18735480 G A rs111397851 IGSF22 Nonsynonymous SNV R672C 0.043 0.039 0.041 21 50 15 0.054 12 3 2 0 1 21.9 65418 chr10 3180288 3180288 C T rs35779348 PITRM1 Nonsynonymous SNV G919S 0.03 0.042 0.02 19 35 16 0.049 6 2 0 0 0 22.1 65419 chr1 152484260 152484260 A T rs56169785 LCE5A Nonsynonymous SNV S84C 0.012 0.003 0.014 1 14 1 0.003 4 0 0 0 0 0.017 65420 chr1 152681689 152681689 - GGCTGCTGTAGCTCTGGC LCE4A C48_G49insCSSGGC 0.025 0.016 0.02 10 29 6 0.026 6 0 0 0 0 65421 chr1 152681835 152681835 G T rs10888510 LCE4A Nonsynonymous SNV G95V 0.031 0.023 0.024 15 36 9 0.038 7 0 0 0 0 1.739 65422 chr10 71902526 71902526 C T rs148847065 TYSND1 Nonsynonymous SNV V461M 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 29.7 65423 chr1 248154224 248154224 C T rs4925586 OR2L1P 0 0 0.092 0 0 0 0 27 0 0 1 0 9.47 65424 chr10 72015277 72015277 G C rs140283186 NPFFR1 Synonymous SNV L243L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Likely benign 0.083 65425 chr10 72015504 72015504 G A rs373480073 NPFFR1 Synonymous SNV L168L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 7.007 65426 chr11 105880760 105880760 G T rs140719237 MSANTD4 Nonsynonymous SNV F180L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 7.544 65427 chr11 133791166 133791166 C T rs150544201 IGSF9B Synonymous SNV S818S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.01 65428 chr10 32143044 32143044 A G rs41289019 ARHGAP12 Synonymous SNV L347L 0.009 0.003 0.014 6 11 1 0.015 4 0 0 0 0 4.185 65429 chr11 134051009 134051009 T G NCAPD3 Nonsynonymous SNV K703T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.72 65430 chr1 248285441 248285441 G T rs6587422 OR2M1P 0 0 0.153 0 0 0 0 45 0 0 5 0 1.968 65431 chr1 248285487 248285487 A G rs6587423 OR2M1P 0 0 0.153 0 0 0 0 45 0 0 5 0 6.313 65432 chr1 153520280 153520280 G C rs116208483 S100A3 Nonsynonymous SNV L62V 0.012 0.003 0.024 2 14 1 0.005 7 0 0 0 0 23.6 65433 chr11 18955941 18955941 G T rs111448117 MRGPRX1 Nonsynonymous SNV R131S 0.004 0.016 0.01 1 5 6 0.003 3 0 0 0 0 25.1 65434 chr1 153751859 153751859 - C rs775999280 SLC27A3 Frameshift insertion H598Pfs*14 0.003 0 0 0 3 0 0 0 0 0 0 0 65435 chr1 153800584 153800584 G A rs180690623 GATAD2B Synonymous SNV N80N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 9.058 65436 chr10 73082639 73082639 T G rs146764905 SLC29A3 Nonsynonymous SNV L43R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 17.28 65437 chr11 14989392 14989392 G A rs148654592 CALCA Nonsynonymous SNV A79V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 15.93 65438 chr1 154184993 154184993 G A rs144385115 C1orf43 Nonsynonymous SNV R98C 0.006 0 0.003 0 7 0 0 1 0 0 0 0 23.4 65439 chr11 108175463 108175463 A T rs1801673 ATM Nonsynonymous SNV D1853V 0.007 0.016 0 1 8 6 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 65440 chr11 1017979 1017979 G A rs754539579 MUC6 Nonsynonymous SNV P1608S 0.032 0.018 0.007 14 37 7 0.036 2 0 0 0 0 0.153 65441 chr11 198510 198510 C T rs3802985 ODF3 Synonymous SNV V153V 0.014 0.023 0.02 5 17 9 0.013 6 0 0 0 0 16.21 65442 chr10 73578797 73578797 G A rs528318545 PSAP Synonymous SNV F476F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 15.25 65443 chr1 2560819 2560821 CAG - rs759174446 MMEL1 L35del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 65444 chr1 155161794 155161794 C T rs147048677 MUC1 Synonymous SNV P113P 0.05 0.018 0.051 10 59 7 0.026 15 0 0 0 0 8.21 65445 chr10 74234889 74234889 C T rs754187624 MICU1 Nonsynonymous SNV R103H 0.003 0.008 0 0 4 3 0 0 0 0 0 0 23.5 65446 chr10 75415614 75415614 C A rs755745146 SYNPO2L Nonsynonymous SNV G23W 0.003 0.008 0 0 4 3 0 0 0 0 0 0 33 65447 chr11 1249834 1249834 C T rs560329506 MUC5B Nonsynonymous SNV A272V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.579 65448 chr10 75549949 75549949 A G rs116051066 ZSWIM8 Synonymous SNV S280S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.254 65449 chr10 75671398 75671398 C A rs1916340 C10orf55 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 9.62 65450 chr10 75673748 75673748 A C rs2227567 PLAU Nonsynonymous SNV K214Q 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign 0.002 65451 chr10 75830527 75830527 G A rs56314318 VCL Synonymous SNV R113R 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Benign 12.92 65452 chr10 75834646 75834646 T C rs56413529 VCL Synonymous SNV D256D 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Benign 7.132 65453 chr11 2638193 2638193 - T KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 65454 chr11 1858479 1858479 G A rs138799724 SYT8 Nonsynonymous SNV V343I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.039 65455 chr11 2424275 2424275 G A rs61743710 TSSC4 Nonsynonymous SNV G138S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 0.286 65456 chr11 101833899 101833899 G A rs77585073 CEP126 Synonymous SNV L711L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.182 65457 chr10 77159503 77159503 C T rs61743304 ZNF503 Synonymous SNV S315S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 9.034 65458 chr1 27949553 27949553 G A rs34597831 FGR Nonsynonymous SNV T110I 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 65459 chr11 292074 292074 C T rs372274607 PGGHG Synonymous SNV N335N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.49 65460 chr10 8006266 8006266 A G rs41290305 TAF3 Nonsynonymous SNV T265A 0.009 0.013 0.01 1 10 5 0.003 3 0 0 0 0 0.004 65461 chr11 1972199 1972199 C T rs149034207 MRPL23 Nonsynonymous SNV R30W 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 33 65462 chr10 48413826 48413826 G A GDF2 Nonsynonymous SNV P348S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 65463 chr10 49654446 49654446 C T rs77852618 ARHGAP22 Synonymous SNV R605R 0.016 0.005 0.007 5 19 2 0.013 2 0 0 0 0 13.04 65464 chr11 102272800 102272800 T G rs112040237 TMEM123 Nonsynonymous SNV T99P 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.722 65465 chr11 2608850 2608850 G T rs12720457 KCNQ1 Nonsynonymous SNV K393N 0.009 0.01 0.003 7 11 4 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.659 65466 chr1 2983963 2983963 G A rs2297828 PRDM16-DT 0 0 0.347 0 0 0 0 102 0 0 16 0 8.155 65467 chr1 2984087 2984087 C A rs2297829 PRDM16-DT 0 0 0.354 0 0 0 0 104 0 0 21 0 8.924 65468 chr1 156647033 156647033 C T rs190174455 NES Synonymous SNV E8E 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 15.45 65469 chr10 82112284 82112284 C T rs368762666 DYDC1 Nonsynonymous SNV R25H 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 21 65470 chr10 6266122 6266122 G A rs368503704 PFKFB3 Synonymous SNV V409V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 65471 chr10 82187167 82187167 G A rs141578885 PRXL2A Nonsynonymous SNV R164Q 0.007 0.016 0 3 8 6 0.008 0 0 0 0 0 35 65472 chr11 1272405 1272405 A T rs553249010 MUC5B Synonymous SNV P4765P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.004 65473 chr10 83635393 83635393 C T rs147245216 NRG3 Synonymous SNV P99P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.28 65474 chr1 158226690 158226690 G A rs141060322 CD1A Nonsynonymous SNV G229D 0.014 0.008 0.02 1 16 3 0.003 6 0 0 0 0 Likely benign 23.1 65475 chr11 116701589 116701589 G A APOC3 Synonymous SNV E52E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.06 65476 chr10 64967951 64967956 CTAAAC - rs139722368 JMJD1C G939_L940del 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 65477 chr10 64974380 64974380 G C rs41274074 JMJD1C Nonsynonymous SNV T297S 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 Benign 0.067 65478 chr11 33374847 33374847 C T rs144710455 HIPK3 Synonymous SNV L1106L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.676 65479 chr11 28106253 28106253 G A rs34913484 KIF18A Nonsynonymous SNV P334S 0.012 0.018 0.017 6 14 7 0.015 5 1 0 0 0 28.5 65480 chr11 130067764 130067764 G T rs583863 ST14 Synonymous SNV T461T 0.023 0.016 0.007 8 27 6 0.021 2 1 0 0 0 1.892 65481 chr1 158577031 158577032 TT - rs764563224 OR10Z1 L268Rfs*18 0.003 0 0 0 3 0 0 0 0 0 0 0 65482 chr11 284580 284580 C T rs369069439 NLRP6 Synonymous SNV A825A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.333 65483 chr10 50740882 50740882 C A ERCC6 Nonsynonymous SNV E43D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 0.153 65484 chr11 103093702 103093702 G A DYNC2H1 Synonymous SNV K3080K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.04 65485 chr11 2929502 2929502 G T rs143044180 SLC22A18 Nonsynonymous SNV G147C 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 25.9 65486 chr11 117982464 117982464 A G rs12270001 TMPRSS4 Nonsynonymous SNV K158E 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 0.006 65487 chr10 89312046 89312046 T C rs2233169 MINPP1 Synonymous SNV A224A 0.006 0.003 0.003 0 7 1 0 1 1 0 0 0 Benign 6.973 65488 chr1 3413874 3413874 G A rs202008315 MEGF6 Nonsynonymous SNV P1135L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.905 65489 chr11 117988105 117988105 C T rs118160252 TMPRSS4 Nonsynonymous SNV P373L 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 25 65490 chr11 31815634 31815634 C T rs145329506 PAX6 Synonymous SNV V36V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 14.11 65491 chr10 90537910 90537910 G T rs41284092 LIPN Nonsynonymous SNV D370Y 0.015 0.01 0.01 3 18 4 0.008 3 0 0 0 0 Benign 22.9 65492 chr1 34677965 34677965 T C C1orf94 Nonsynonymous SNV M560T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 65493 chr11 10580684 10580684 C T rs7948666 LYVE1 Nonsynonymous SNV V315M 0.026 0.021 0.014 9 30 8 0.023 4 1 0 0 0 23.5 65494 chr11 10581437 10581437 G T rs118170201 LYVE1 Synonymous SNV V236V 0.027 0.021 0.014 9 32 8 0.023 4 1 0 0 0 3.299 65495 chr11 118925374 118925374 C T rs35408224 HYOU1 Synonymous SNV K170K 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 15.42 65496 chr1 35227162 35227162 C T rs9426009 GJB4 Nonsynonymous SNV R103C 0.013 0.003 0.024 10 15 1 0.026 7 0 0 0 0 25.5 65497 chr11 134128923 134128923 C G rs113488591 ACAD8 Nonsynonymous SNV S171C 0.014 0.023 0.007 4 16 9 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 65498 chr11 106647222 106647222 G A rs34690080 GUCY1A2 Synonymous SNV A593A 0.032 0.031 0.024 15 37 12 0.038 7 1 1 0 0 12.69 65499 chr1 158985673 158985673 G A rs116270651 IFI16 Nonsynonymous SNV A93T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 8.695 65500 chr1 35370275 35370275 C T DLGAP3 Nonsynonymous SNV R237Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 65501 chr11 3383101 3383101 G A rs542961230 ZNF195 Nonsynonymous SNV A82V 0.003 0.013 0 0 4 5 0 0 0 0 0 0 9.55 65502 chr1 3688030 3688030 C T rs3737592 CCDC27 Synonymous SNV P638P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.41 65503 chr11 10791787 10791787 C T rs200624749 CTR9 Nonsynonymous SNV H714Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.8 65504 chr10 71851653 71851653 G A rs116804623 MACROH2A2 Synonymous SNV T140T 0.023 0.01 0.003 10 27 4 0.026 1 0 0 0 0 15.01 65505 chr10 71905442 71905442 - GGC TYSND1 A300_P301insA 0.003 0 0 5 4 0 0.013 0 0 0 0 0 65506 chr11 108164137 108164137 T C rs140856217 ATM Nonsynonymous SNV V1570A 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.671 65507 chr1 39384826 39384826 A G rs147715012 RHBDL2 Nonsynonymous SNV M100T 0.009 0.013 0.01 5 10 5 0.013 3 0 0 0 0 0.241 65508 chr10 95405723 95405723 G A rs200011594 PDE6C Synonymous SNV T618T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.77 65509 chr11 31329373 31329373 C T rs2761591 DCDC1 Nonsynonymous SNV V83M 0.007 0.008 0.003 0 8 3 0 1 1 0 0 0 Uncertain significance 21.8 65510 chr10 6268205 6268205 G A rs35877496 PFKFB3 Synonymous SNV P444P 0.046 0.026 0.024 13 54 10 0.033 7 2 1 0 0 13.07 65511 chr11 17408496 17408496 C T rs8175351 KCNJ11 Synonymous SNV K381K 0.02 0.029 0.014 14 24 11 0.036 4 0 1 0 0 Conflicting interpretations of pathogenicity 9.714 65512 chr10 64564853 64564853 C G ADO Nonsynonymous SNV R12G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29.7 65513 chr11 17491730 17491730 G A rs8192695 ABCC8 Synonymous SNV A110A 0.036 0.049 0.027 14 42 19 0.036 8 0 2 0 0 Benign 13.91 65514 chr11 43913604 43913604 G A rs16937692 ALKBH3 Synonymous SNV Q128Q 0.035 0.036 0.031 9 41 14 0.023 9 0 0 0 0 9.866 65515 chr1 41094989 41094989 A C rs377357860 RIMS3 Nonsynonymous SNV I176M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 65516 chr11 44071613 44071613 G A ACCSL Nonsynonymous SNV G169D 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 65517 chr11 33566507 33566507 G A rs117590358 KIAA1549L Nonsynonymous SNV A990T 0.024 0.031 0.02 10 28 12 0.026 6 1 1 0 0 10.26 65518 chr10 73574953 73574953 G A rs148475933 CDH23 Nonsynonymous SNV R190H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 65519 chr1 41512229 41512229 C G rs750438486 SCMH1 Nonsynonymous SNV V282L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 65520 chr10 75059382 75059382 C T rs551063949 CFAP70 Nonsynonymous SNV R311Q 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 25.3 65521 chr11 4615721 4615721 C T rs189435268 OR52I1 Synonymous SNV A151A 0.008 0.003 0.014 4 9 1 0.01 4 0 0 0 0 7.959 65522 chr11 18536275 18536275 C T rs753354951 TSG101 Nonsynonymous SNV V103I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 19.26 65523 chr1 162824562 162824562 G A rs187742957 CCDC190 Nonsynonymous SNV P301L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.5 65524 chr10 99218456 99218456 C T rs36023427 MMS19 Nonsynonymous SNV G931D 0.02 0.013 0.027 5 24 5 0.013 8 0 0 0 0 32 65525 chr10 99342090 99342090 C T ANKRD2 Nonsynonymous SNV H338Y 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 26.1 65526 chr11 113222885 113222885 A T rs35852218 TTC12 Nonsynonymous SNV M443L 0.009 0 0.003 6 10 0 0.015 1 0 0 0 0 0.028 65527 chr11 100998536 100998536 C A PGR Synonymous SNV P422P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 65528 chr11 36422701 36422701 C T rs78731804 PRR5L Synonymous SNV P10P 0.045 0.042 0.034 9 53 16 0.023 10 1 1 0 0 11.04 65529 chr1 169102044 169102044 - AAGT rs755143347 NME7 Frameshift insertion F370Lfs*8 0.002 0 0.007 0 2 0 0 2 0 0 0 0 65530 chr11 36597375 36597375 C T rs104894287 RAG1 Nonsynonymous SNV R841W 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 32 65531 chr11 36614202 36614202 C T rs144812762 RAG2 Nonsynonymous SNV R506H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.281 65532 chr1 169701080 169701080 G A SELE Nonsynonymous SNV A142V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 65533 chr11 47858506 47858506 C T NUP160 Nonsynonymous SNV C292Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 65534 chr11 4128739 4128739 T C rs2228121 RRM1 Synonymous SNV L24L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 8.034 65535 chr11 117089270 117089270 G A rs761930719 PCSK7 Synonymous SNV V482V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.53 65536 chr1 45469586 45469586 G A rs41312020 HECTD3 Synonymous SNV R790R 0.037 0.029 0.034 15 44 11 0.038 10 0 0 0 0 12.03 65537 chr1 45479709 45479709 A G rs2228084 UROD Synonymous SNV P201P 0.038 0.029 0.034 15 45 11 0.038 10 0 0 0 0 Benign/Likely benign 8.47 65538 chr11 48238880 48238880 C T rs10838833 OR4B1 Synonymous SNV D173D 0.068 0.073 0.068 28 80 28 0.072 20 0 1 1 1 2.415 65539 chr10 86131036 86131036 A G rs148282462 CCSER2 Synonymous SNV A76A 0.016 0.013 0.007 6 19 5 0.015 2 0 0 0 0 0.002 65540 chr11 48346684 48346684 T G rs1005137673 OR4C3 Synonymous SNV V37V 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 0.019 65541 chr11 48266736 48266736 C G rs7120775 OR4X2 Stop gain Y27X 0.072 0.078 0.065 29 84 30 0.074 19 0 2 1 1 34 65542 chr11 48266994 48266994 C T rs138405403 OR4X2 Synonymous SNV D113D 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 8.223 65543 chr11 4470651 4470651 T A rs144650066 OR52K2 Nonsynonymous SNV W28R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 65544 chr11 48285906 48285906 C T rs16905753 OR4X1 Nonsynonymous SNV P165L 0.07 0.076 0.068 29 82 29 0.074 20 0 2 1 1 26.5 65545 chr11 126162590 126162590 G A rs8177400 TIRAP Nonsynonymous SNV D96N 0.014 0.013 0.01 7 17 5 0.018 3 0 0 0 0 29.4 65546 chr11 4510553 4510553 C T rs3889581 OR52K1 Synonymous SNV S141S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 8.405 65547 chr11 126213242 126213242 G A rs35836343 DCPS Nonsynonymous SNV G233D 0.009 0.018 0.003 13 10 7 0.033 1 0 0 0 0 Benign/Likely benign 13.19 65548 chr1 175087770 175087770 G A rs61742152 TNN Synonymous SNV V820V 0.031 0.013 0.024 8 36 5 0.021 7 1 0 1 0 3.96 65549 chr11 126215507 126215507 G A rs139354381 DCPS Synonymous SNV X345X 0.014 0.029 0.003 17 16 11 0.044 1 0 0 0 0 Benign 13.12 65550 chr1 175105996 175105996 C T rs2072036 TNN Nonsynonymous SNV A1156V 0.085 0.076 0.102 24 100 29 0.062 30 7 2 2 2 10.2 65551 chr11 45935689 45935689 C G rs35214605 PEX16 Nonsynonymous SNV V254L 0.023 0.021 0.037 25 27 8 0.064 11 1 0 0 0 Benign/Likely benign 16.1 65552 chr11 2466656 2466656 G A rs199472677 KCNQ1 Nonsynonymous SNV V110I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 65553 chr10 94825736 94825736 C T rs147253174 CYP26C1 Synonymous SNV F295F 0.01 0.021 0 4 12 8 0.01 0 0 1 0 0 Benign 19.54 65554 chr11 11924883 11924883 A G rs778077764 USP47 Synonymous SNV T97T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.826 65555 chr11 132016374 132016374 C T rs117450810 NTM Synonymous SNV H122H 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 13.05 65556 chr1 53544260 53544260 C T PODN Nonsynonymous SNV R408W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 65557 chr11 14666123 14666123 G A PDE3B Nonsynonymous SNV V168M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.5 65558 chr1 180962526 180962526 C T rs34036241 STX6 Synonymous SNV Q11Q 0.025 0.01 0.027 10 29 4 0.026 8 0 0 0 1 14.2 65559 chr11 2950225 2950233 CGGCGGGTG - rs778576348 PHLDA2 A121_A123del 0 0.003 0 0 0 1 0 0 0 0 0 0 65560 chr10 96098493 96098493 T A rs12259382 NOC3L Nonsynonymous SNV T655S 0.011 0 0.003 2 13 0 0.005 1 0 0 0 0 16.81 65561 chr11 48387275 48387275 T C rs10838881 OR4C5 Nonsynonymous SNV K248R 0.07 0.068 0.065 28 82 26 0.072 19 0 0 0 0 23.8 65562 chr11 47493806 47493806 C T rs145495807 CELF1 Synonymous SNV S479S 0.011 0.021 0.027 4 13 8 0.01 8 0 1 0 0 Benign 15.41 65563 chr11 47521007 47521007 G A rs369642872 CELF1 Synonymous SNV P23P 0.011 0.021 0.027 4 13 8 0.01 8 0 1 0 0 12.74 65564 chr10 96110014 96110014 A G rs142305111 NOC3L Synonymous SNV N328N 0.005 0 0 2 6 0 0.005 0 0 0 0 0 4.134 65565 chr11 47587243 47587243 C G rs143766862 PTPMT1 Synonymous SNV T23T 0.011 0.021 0.027 4 13 8 0.01 8 0 1 0 0 7.787 65566 chr11 47587390 47587390 C T rs193125282 PTPMT1 Synonymous SNV R72R 0.011 0.021 0.027 4 13 8 0.01 8 0 1 0 0 7.874 65567 chr1 182827882 182827882 T G rs73063097 DHX9 Synonymous SNV S305S 0.022 0.036 0.037 11 26 14 0.028 11 1 0 1 0 13.04 65568 chr11 47869855 47869855 C A rs2305984 NUP160 Nonsynonymous SNV A40S 0.013 0.018 0.027 4 15 7 0.01 8 0 0 0 0 0.01 65569 chr11 32956492 32956492 C T rs62618693 QSER1 Nonsynonymous SNV R1230C 0.042 0.057 0.027 32 49 22 0.082 8 1 1 1 1 33 65570 chr1 55224773 55224773 A C rs116816976 PARS2 Nonsynonymous SNV L21R 0.007 0.01 0.01 0 8 4 0 3 0 0 0 0 Benign 0.001 65571 chr1 183204831 183204831 C G rs144355456 LAMC2 Nonsynonymous SNV P808A 0.01 0.036 0.02 2 12 14 0.005 6 0 0 0 0 Benign 0.001 65572 chr10 90673070 90673070 G A rs35493467 STAMBPL1 Synonymous SNV L211L 0.009 0.01 0.01 8 11 4 0.021 3 0 0 0 0 10.01 65573 chr10 90699157 90699157 C T rs1035534571 ACTA2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.266 65574 chr1 184663232 184663232 C G rs948245150 EDEM3 Nonsynonymous SNV E922Q 0.003 0 0 0 3 0 0 0 0 0 0 0 28.4 65575 chr10 91177029 91177029 C G rs59633641 IFIT5 Nonsynonymous SNV L25V 0.014 0.005 0.003 5 17 2 0.013 1 0 0 0 0 19.31 65576 chr1 184680927 184680927 A G EDEM3 Nonsynonymous SNV Y541H 0.002 0.013 0 0 2 5 0 0 0 0 0 0 24.6 65577 chr1 184680979 184680979 G A EDEM3 Synonymous SNV N523N 0.002 0.013 0 0 2 5 0 0 0 0 0 0 8.848 65578 chr1 184765169 184765169 T C rs147077078 NIBAN1 Nonsynonymous SNV S577G 0.002 0.013 0 0 2 5 0 0 0 0 0 0 23.5 65579 chr10 99141192 99141192 C T rs139484717 RRP12 Nonsynonymous SNV V357M 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 16.3 65580 chr1 55691384 55691384 T C rs17111728 MIR4422 0 0 0.088 0 0 0 0 26 0 0 2 0 3.043 65581 chr1 57476377 57476377 G A rs141647150 DAB1 Synonymous SNV A553A 0.009 0.016 0.007 2 11 6 0.005 2 0 0 0 0 Benign 14.12 65582 chr1 185985178 185985178 T C rs115874887 HMCN1 Synonymous SNV A1666A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 5.619 65583 chr1 186024643 186024643 G A rs12067376 HMCN1 Nonsynonymous SNV M2327I 0.015 0.013 0.007 6 18 5 0.015 2 0 0 0 0 Benign 8.846 65584 chr11 1026001 1026001 G A rs191759836 MUC6 Nonsynonymous SNV T896M 0.014 0.01 0 3 16 4 0.008 0 0 0 0 0 22.1 65585 chr1 5951013 5951013 C T rs34248917 NPHP4 Nonsynonymous SNV R228H 0.021 0.016 0.031 9 25 6 0.023 9 0 0 0 1 Benign/Likely benign 2.552 65586 chr10 94333763 94333763 A G rs543210281 IDE Nonsynonymous SNV L5P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.5 65587 chr10 99770906 99770906 G A rs769375314 CRTAC1 Synonymous SNV I71I 0.003 0 0 0 4 0 0 0 0 0 0 0 17.13 65588 chr1 196642171 196642171 C T CFH Nonsynonymous SNV T41I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.937 65589 chr11 35685124 35685124 A G TRIM44 Synonymous SNV G155G 0.001 0.008 0 0 1 3 0 0 0 0 0 0 1.467 65590 chr1 196684751 196684751 T A rs147403664 CFH Nonsynonymous SNV N516K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 16.62 65591 chr11 104825726 104825726 - TTTT rs555193787 CASP4 Frameshift insertion G4Kfs*10 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 65592 chr11 104825730 104825730 - GTG rs558999956 CASP4 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 65593 chr1 196973872 196973872 G A rs144438200 CFHR5 Nonsynonymous SNV G471E 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.3 65594 chr11 3720437 3720437 C A rs774420173 NUP98 Nonsynonymous SNV C1248F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.66 65595 chr10 96039710 96039710 T C rs78085836 PLCE1-AS1 0.02 0.01 0.031 12 24 4 0.031 9 0 0 0 0 2.28 65596 chr10 97709780 97709780 T C rs10159949 CC2D2B Nonsynonymous SNV V310A 0.024 0.031 0 8 28 12 0.021 0 0 0 0 0 20.3 65597 chr1 63789015 63789015 G T rs2274188 FOXD3 Nonsynonymous SNV V96L 0.007 0.01 0.014 1 8 4 0.003 4 0 0 0 0 0.743 65598 chr11 1244408 1244408 G A rs577555918 MUC5B Nonsynonymous SNV V19M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 65599 chr11 10874540 10874540 G A rs2232929 ZBED5 Synonymous SNV Y651Y 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 0.04 65600 chr10 99094164 99094164 C T rs528434717 FRAT2 Nonsynonymous SNV A56T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 16.98 65601 chr1 65247241 65247241 C T rs367937386 RAVER2 Nonsynonymous SNV A322V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 65602 chr11 124749145 124749145 G A rs148372884 ROBO3 Nonsynonymous SNV R247H 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Likely benign 17.22 65603 chr11 1097336 1097336 G C MUC2 Nonsynonymous SNV R2251P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 65604 chr11 111608216 111608216 T A rs61756429 PPP2R1B Nonsynonymous SNV N559Y 0.021 0.016 0.014 2 25 6 0.005 4 1 0 0 0 22.1 65605 chr1 67185083 67185083 A C rs117189863 SGIP1 Synonymous SNV P382P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.265 65606 chr1 201178965 201178965 A G rs12758143 IGFN1 Nonsynonymous SNV I1648M 0.036 0.052 0.027 14 42 20 0.036 8 0 0 0 0 0.004 65607 chr11 20181769 20181769 G C rs539147371 DBX1 Synonymous SNV S34S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.461 65608 chr1 201178977 201178977 C T rs368642483 IGFN1 Synonymous SNV S1652S 0.014 0.01 0.01 6 17 4 0.015 3 0 0 0 0 2.053 65609 chr1 201178984 201178984 G A rs12758581 IGFN1 Nonsynonymous SNV G1655S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 4.733 65610 chr11 4674343 4674343 G A rs139501861 OR51E1 Nonsynonymous SNV R196Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 8.378 65611 chr11 551286 551286 C T rs372968457 LRRC56 Synonymous SNV N260N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.844 65612 chr11 5529041 5529041 A T rs368710348 UBQLN3 Nonsynonymous SNV L583Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 65613 chr1 75097499 75097499 G A rs137917442 ERICH3 Synonymous SNV P239P 0.02 0.026 0.024 6 24 10 0.015 7 0 0 0 0 3.558 65614 chr1 75097578 75097578 A G rs376757975 ERICH3 Nonsynonymous SNV I213T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 65615 chr11 47333391 47333391 C G rs139032053 MADD Nonsynonymous SNV L1320V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.3 65616 chr11 2335748 2335748 C T rs148601311 TSPAN32 Nonsynonymous SNV R164C 0.006 0 0 6 7 0 0.015 0 0 0 0 0 25.1 65617 chr1 201331240 201331240 C T rs11810834 TNNT2 Nonsynonymous SNV A192T 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 Benign 6.607 65618 chr1 76209935 76209935 T C rs1146580 DLSTP1 0 0 0.262 0 0 0 0 77 0 0 10 0 2.897 65619 chr1 76210289 76210289 C T rs11161510 DLSTP1 0 0 0.197 0 0 0 0 58 0 0 6 0 14.36 65620 chr1 76255228 76255228 G A rs11161620 SNORD45B 0 0 0.207 0 0 0 0 61 0 0 5 0 17.5 65621 chr1 76388037 76388037 T C ASB17 Nonsynonymous SNV T137A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 65622 chr11 55406746 55406746 C T rs140324531 OR4P4 Nonsynonymous SNV L305F 0.006 0.008 0.003 0 7 3 0 1 2 0 0 0 0.001 65623 chr11 498921 498921 G A rs553039743 RNH1 Synonymous SNV C209C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.264 65624 chr11 113775667 113775667 T A HTR3B Nonsynonymous SNV S4R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 65625 chr11 4790386 4790386 G T rs142202588 OR51F1 Stop gain Y261X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 65626 chr11 55371381 55371381 G A rs75423534 OR4C11 Stop gain Q157X 0.056 0.057 0.082 22 66 22 0.056 24 15 6 7 5 35 65627 chr1 79121082 79121082 C G rs140087977 IFI44 Synonymous SNV G242G 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 6.357 65628 chr11 55541284 55541284 G A rs11230983 OR5D13 Nonsynonymous SNV R124H 0.045 0.042 0.061 19 53 16 0.049 18 0 1 0 0 20.7 65629 chr1 82453022 82453022 A G rs76995529 ADGRL2 Synonymous SNV L1169L 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 13.39 65630 chr11 5080181 5080181 A G rs72873928 OR52E2 Nonsynonymous SNV V226A 0.061 0.063 0.068 22 72 24 0.056 20 2 1 2 0 23.9 65631 chr1 203672867 203672867 T C rs145963279 ATP2B4 Nonsynonymous SNV V342A 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Benign 0.001 65632 chr11 27398727 27398727 C A rs117543292 LGR4 Nonsynonymous SNV G339C 0.018 0.018 0.014 5 21 7 0.013 4 0 0 0 0 34 65633 chr1 203681255 203681255 C T rs2229565 ATP2B4 Synonymous SNV N733N 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 15.88 65634 chr1 85122127 85122127 T C SSX2IP Synonymous SNV V346V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.711 65635 chr11 55681865 55681865 T C rs12419022 OR5W2 Nonsynonymous SNV H65R 0.045 0.044 0.061 19 53 17 0.049 18 0 1 0 0 10.23 65636 chr11 5322969 5322969 C T rs372411119 OR51B4 Nonsynonymous SNV G70R 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.9 65637 chr11 55798259 55798259 G T rs12224086 OR5AS1 Nonsynonymous SNV R122L 0.047 0.044 0.065 19 55 17 0.049 19 0 1 0 0 24.7 65638 chr11 55904382 55904382 A C rs17150102 OR8J3 Nonsynonymous SNV D271E 0.049 0.044 0.065 19 58 17 0.049 19 0 1 0 0 24.5 65639 chr11 55904828 55904828 A G rs11227321 OR8J3 Nonsynonymous SNV Y123H 0.049 0.044 0.065 19 58 17 0.049 19 0 1 0 0 17.48 65640 chr11 55905078 55905078 C T rs61742348 OR8J3 Nonsynonymous SNV M39I 0.049 0.044 0.065 19 58 17 0.049 19 0 1 0 0 6.401 65641 chr1 86591743 86591743 T C rs752966345 COL24A1 Synonymous SNV T92T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 65642 chr1 204380483 204380483 C G rs34146119 PPP1R15B Synonymous SNV R19R 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 9.121 65643 chr11 55944474 55944474 G A rs4489763 OR5J2 Synonymous SNV V127V 0.048 0.042 0.065 17 56 16 0.044 19 0 1 0 0 5.097 65644 chr11 55999950 55999950 G C rs12221615 OR5T2 Nonsynonymous SNV L238V 0.048 0.042 0.065 17 56 16 0.044 19 0 1 0 0 0.71 65645 chr1 204399115 204399115 C T rs150362646 PIK3C2B Synonymous SNV E1444E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.86 65646 chr1 204402500 204402500 C T rs2271422 PIK3C2B Synonymous SNV V1299V 0.007 0.005 0.007 0 8 2 0 2 1 0 0 0 15.01 65647 chr11 102713203 102713203 T A MMP3 Nonsynonymous SNV Y153F 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 5.712 65648 chr11 56000451 56000451 G A rs11227598 OR5T2 Synonymous SNV L71L 0.048 0.042 0.065 17 56 16 0.044 19 0 1 0 0 1.034 65649 chr1 204408135 204408135 G A rs41302123 PIK3C2B Synonymous SNV T1148T 0.007 0.005 0.007 0 8 2 0 2 1 0 0 0 14.65 65650 chr11 118514720 118514720 G A MIR6716 0.001 0 0 0 1 0 0 0 0 0 0 0 7.288 65651 chr11 1031058 1031058 - G rs71464128 MUC6 0.049 0.023 0.048 11 57 9 0.028 14 6 0 1 1 65652 chr11 118959801 118959801 C G HMBS Nonsynonymous SNV S57C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 65653 chr11 16838641 16838641 G A rs140249022 PLEKHA7 Synonymous SNV Y524Y 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 3.258 65654 chr11 16847726 16847726 C T rs61751349 PLEKHA7 Synonymous SNV R428R 0.039 0.018 0.044 28 46 7 0.072 13 1 0 0 1 14.99 65655 chr1 89479947 89479947 C T rs76475726 GBP3 Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 65656 chr11 104825607 104825607 C A CASP4 Nonsynonymous SNV K43N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.1 65657 chr1 89730606 89730606 A G rs200292717 GBP5 Synonymous SNV S304S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.134 65658 chr1 89755671 89755671 T A rs623771 LOC729930 0 0 0.653 0 0 0 0 192 0 0 68 0 5.159 65659 chr11 33127136 33127136 T G rs145772743 CSTF3 Synonymous SNV R188R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.092 65660 chr11 10506416 10506416 T C AMPD3 Synonymous SNV D54D 0.003 0 0 0 4 0 0 0 0 0 0 0 3.281 65661 chr11 119535677 119535677 - CCT rs137909701 NECTIN1 E444_G445insE 0.04 0.018 0.031 17 47 7 0.044 9 0 0 0 0 65662 chr11 119548369 119548369 C T rs142863092 NECTIN1 Nonsynonymous SNV R210H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.8 65663 chr11 11964530 11964530 A G rs769161878 USP47 Nonsynonymous SNV T814A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 16.09 65664 chr1 206331120 206331120 C A rs572870573 CTSE Nonsynonymous SNV F253L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 19.22 65665 chr11 555411 555411 G C LMNTD2 Nonsynonymous SNV P556R 0 0.003 0 2 0 1 0.005 0 0 0 0 1 0.662 65666 chr1 91989707 91989707 A G rs1046622 CDC7 Synonymous SNV Q480Q 0.014 0.016 0.014 1 17 6 0.003 4 0 0 0 0 0.096 65667 chr11 35338989 35338989 C T rs199599866 SLC1A2 Nonsynonymous SNV R31Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.2 65668 chr11 121028666 121028666 C T rs33981325 TECTA Synonymous SNV N1474N 0.016 0.016 0.014 13 19 6 0.033 4 1 0 0 0 Conflicting interpretations of pathogenicity 13.63 65669 chr11 121414425 121414425 G A rs140739692 SORL1 Synonymous SNV T618T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 65670 chr1 207648290 207648290 A G rs141282665 CR2 Synonymous SNV G756G 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 10.25 65671 chr11 3723941 3723941 C A NUP98 Synonymous SNV P1041P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 65672 chr11 55735436 55735436 G - rs776469051 OR10AG1 C170Vfs*16 0 0.003 0 2 0 1 0.005 0 0 0 0 0 65673 chr1 93735934 93735934 A T rs41292129 CCDC18 Nonsynonymous SNV I1305F 0.032 0.029 0.054 6 37 11 0.015 16 0 0 1 0 23.1 65674 chr1 209783233 209783233 G A rs56379151 CAMK1G Synonymous SNV P262P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.43 65675 chr11 55999634 55999634 - T rs534970555 OR5T2 Frameshift insertion M343Nfs*10 0 0.003 0 2 0 1 0.005 0 0 0 0 0 65676 chr11 123484175 123484175 C G rs62641672 GRAMD1B Nonsynonymous SNV A496G 0.004 0 0.003 0 5 0 0 1 0 0 0 0 20.6 65677 chr11 1103202 1103202 A G MUC2 Nonsynonymous SNV K2651R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.797 65678 chr11 111167185 111167185 C T rs61753533 COLCA1 Nonsynonymous SNV A7T 0.015 0.018 0.031 3 18 7 0.008 9 0 0 0 0 10.71 65679 chr1 211654499 211654499 T C rs200585050 RD3 Nonsynonymous SNV K87E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25.1 65680 chr1 977028 977028 G T rs138031468 AGRN Nonsynonymous SNV A375S 0.008 0.01 0.014 1 9 4 0.003 4 0 0 0 0 Benign/Likely benign 15.01 65681 chr11 56310564 56310564 G A rs200803638 OR5M11 Nonsynonymous SNV T57M 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 14.95 65682 chr1 98510847 98510847 C T rs74904371 MIR2682 0 0 0.088 0 0 0 0 26 0 0 1 0 19.96 65683 chr11 45832845 45832845 C T rs145613857 SLC35C1 Nonsynonymous SNV P352S 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.121 65684 chr11 104034619 104034619 C A PDGFD Nonsynonymous SNV A13S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 12.53 65685 chr20 10622501 10622501 G C rs35761929 JAG1 Nonsynonymous SNV P871R 0.049 0.036 0.027 25 58 14 0.064 8 0 1 0 1 Benign 23.4 65686 chr20 11249077 11249077 C T rs77310695 LOC339593 0 0 0.031 0 0 0 0 9 0 0 0 0 1.557 65687 chr11 124135645 124135645 T C rs200328143 OR8G5 Nonsynonymous SNV V308A 0.003 0 0 0 4 0 0 0 0 0 0 0 19.41 65688 chr20 13763601 13763601 A G rs6131521 ESF1 Synonymous SNV H62H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.036 65689 chr11 46819445 46819445 T C CKAP5 Synonymous SNV T416T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.808 65690 chr11 114451010 114451010 T C rs193088648 NXPE4 Nonsynonymous SNV I315V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 65691 chr1 217947854 217947854 C T rs141925976 SPATA17 Nonsynonymous SNV P233L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.7 65692 chr20 15874189 15874189 A T rs6080011 LOC613266 0 0 0.558 0 0 0 0 164 0 0 61 0 0.527 65693 chr11 124738735 124738735 C A ROBO3 Synonymous SNV I66I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 65694 chr11 5322606 5322606 A G rs57211922 OR51B4 Nonsynonymous SNV F191L 0.003 0.01 0 3 3 4 0.008 0 0 0 0 0 15.58 65695 chr11 1093393 1093393 G A rs199525790 MUC2 Nonsynonymous SNV G1738S 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 2.128 65696 chr11 1093567 1093567 - C rs774060881 MUC2 Frameshift insertion T1797Nfs*50 0.018 0.003 0.003 7 21 1 0.018 1 0 0 0 0 65697 chr11 1093569 1093569 - CCACGGTGACACCAACCCCAACACCCACCGGCACACAGACCCCAACATCGACACCCATCACCACCACC MUC2 Stop gain T1797Pfs*3 0 0 0 2 0 0 0.005 0 0 0 0 0 65698 chr1 223177974 223177974 G A rs76611705 DISP1 Nonsynonymous SNV V1079M 0.013 0.021 0.01 1 15 8 0.003 3 0 0 1 0 14.25 65699 chr11 3249936 3249936 C T rs752304201 MRGPRE Nonsynonymous SNV E32K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.43 65700 chr11 5719649 5719649 T C rs78484876 TRIM22 Synonymous SNV G204G 0.008 0.003 0.02 2 9 1 0.005 6 0 0 0 0 6.299 65701 chr20 17489594 17489594 C T rs140834233 BFSP1 Synonymous SNV L100L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.09 65702 chr1 223178477 223178477 C T rs72744122 DISP1 Synonymous SNV D1246D 0.013 0.021 0.01 1 15 8 0.003 3 0 0 1 0 11.84 65703 chr11 5701079 5701079 C T rs56348930 TRIM5 Nonsynonymous SNV G110E 0.011 0.01 0.014 3 13 4 0.008 4 0 0 0 0 5.797 65704 chr20 17943492 17943492 A T rs753213 SNORD17 0 0 0.221 0 0 0 0 65 0 0 3 0 7.659 65705 chr11 56143943 56143943 A C rs144372898 OR8U1, OR8U8 Nonsynonymous SNV I282L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.96 65706 chr11 57081146 57081146 G C rs12364724 TNKS1BP1 Nonsynonymous SNV P339R 0.06 0.063 0.071 23 70 24 0.059 21 2 2 1 1 1.08 65707 chr11 118373811 118373811 G T rs370812470 KMT2A Nonsynonymous SNV V2402F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.762 65708 chr11 34472623 34472623 C T rs61752922 CAT Synonymous SNV I109I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.28 65709 chr1 225580093 225580093 G C rs61738690 DNAH14 Nonsynonymous SNV K4477N 0.048 0.044 0.058 18 56 17 0.046 17 2 0 1 1 0.004 65710 chr1 225600169 225600169 C T rs112582692 LBR Synonymous SNV S357S 0.048 0.044 0.058 18 56 17 0.046 17 2 0 1 1 Benign/Likely benign 20.3 65711 chr11 58206714 58206714 C T rs117028468 OR5B12 Nonsynonymous SNV G304E 0.013 0.018 0.003 4 15 7 0.01 1 0 0 0 0 0.002 65712 chr1 226549780 226549780 C T PARP1 Synonymous SNV L951L 0.003 0 0 0 3 0 0 0 0 0 0 0 17.73 65713 chr11 120348176 120348176 A T rs201575311 ARHGEF12 Nonsynonymous SNV D1139V 0.01 0.016 0.007 0 12 6 0 2 0 0 0 0 22.8 65714 chr1 226595617 226595617 G A PARP1 Nonsynonymous SNV S5L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.08 65715 chr11 121059789 121059789 A G rs777385557 TECTA Nonsynonymous SNV T2055A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.03 65716 chr11 129306648 129306648 T C rs142822705 BARX2 Nonsynonymous SNV S64P 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 10.21 65717 chr11 58956702 58956702 C T rs2275991 DTX4 Synonymous SNV V249V 0.001 0.01 0.007 1 1 4 0.003 2 0 0 1 0 Benign 16.19 65718 chr11 58980122 58980122 T C rs143527301 MPEG1 Nonsynonymous SNV T73A 0.002 0.01 0.01 1 2 4 0.003 3 0 0 1 0 23.9 65719 chr20 25228980 25228980 C T PYGB Synonymous SNV L56L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 65720 chr11 44074582 44074582 C T ACCSL Synonymous SNV D304D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.88 65721 chr1 227935770 227935770 C T rs747043306 SNAP47 Synonymous SNV D111D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.04 65722 chr11 45924170 45924170 C A MAPK8IP1 Synonymous SNV T284T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.61 65723 chr11 16863259 16863259 G C rs35068039 PLEKHA7 Nonsynonymous SNV T236R 0.022 0.016 0.014 9 26 6 0.023 4 0 0 0 0 25.8 65724 chr11 17156443 17156443 C T rs775426051 PIK3C2A Synonymous SNV K297K 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 13.97 65725 chr11 17408485 17408485 G C rs41282930 KCNJ11 Nonsynonymous SNV S385C 0.02 0.013 0.017 8 23 5 0.021 5 0 0 0 0 Benign/Likely benign 21.6 65726 chr20 31043975 31043975 G A rs577281862 NOL4L Synonymous SNV C111C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.065 65727 chr20 31388080 31388080 C T rs17123657 DNMT3B Synonymous SNV D531D 0.011 0.016 0.027 0 13 6 0 8 0 0 0 0 Benign 16.38 65728 chr11 47187044 47187044 C T rs142683966 ARFGAP2 Nonsynonymous SNV G491S 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 24.2 65729 chr11 60620692 60620692 C A rs41352145 PTGDR2 Synonymous SNV V168V 0.02 0.036 0.02 11 24 14 0.028 6 0 1 0 0 13.2 65730 chr11 47298402 47298402 A G rs34602269 MADD Synonymous SNV A361A 0.017 0.021 0.017 13 20 8 0.033 5 1 0 0 0 11.97 65731 chr20 31892670 31892670 G A rs143134619 BPIFB1 Synonymous SNV L409L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.639 65732 chr11 58170794 58170794 G A rs17152661 OR5B3 Nonsynonymous SNV P30L 0.016 0.021 0.01 9 19 8 0.023 3 0 0 0 0 0.001 65733 chr20 35128751 35128751 G A rs41274714 DLGAP4 Nonsynonymous SNV R43Q 0.021 0.018 0.034 16 25 7 0.041 10 0 1 0 0 21.2 65734 chr11 58979085 58979085 C T rs374806906 MPEG1 Synonymous SNV P418P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.951 65735 chr20 3515983 3515983 A T rs139505141 ATRN Nonsynonymous SNV Q49L 0 0 0.007 0 0 0 0 2 0 0 0 0 15.78 65736 chr11 12315175 12315175 G A rs148792670 MICALCL Nonsynonymous SNV R66Q 0.014 0.023 0.014 13 16 9 0.033 4 0 0 0 0 3.754 65737 chr11 18732256 18732256 G A rs531575688 IGSF22 Stop gain R840X 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 36 65738 chr11 12315256 12315256 A C rs12574273 MICALCL Nonsynonymous SNV Y93S 0.037 0.047 0.048 19 43 18 0.049 14 2 1 0 1 2.494 65739 chr11 12316085 12316085 T A rs3812753 MICALCL Nonsynonymous SNV D369E 0.039 0.049 0.048 18 46 19 0.046 14 2 1 0 1 26 65740 chr11 18762217 18762217 C T rs143710986 PTPN5 Nonsynonymous SNV R259H 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 65741 chr20 3673674 3673674 G A SIGLEC1 Nonsynonymous SNV L1205F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 65742 chr1 229438686 229438686 C T rs779345299 RAB4A Nonsynonymous SNV R102C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 65743 chr11 61674082 61674082 G A rs61746012 RAB3IL1 Synonymous SNV R171R 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 13.84 65744 chr1 231131713 231131713 A C rs141782810 ARV1 Nonsynonymous SNV N219T 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Uncertain significance 26.6 65745 chr11 6190871 6190871 C T rs201845183 OR52B2 Nonsynonymous SNV R229H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.012 65746 chr11 123887118 123887118 G A rs150326783 OR10G4 Synonymous SNV T279T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.711 65747 chr11 62289033 62289033 G A rs150830843 AHNAK Nonsynonymous SNV L4286F 0.002 0.005 0 6 2 2 0.015 0 0 0 0 0 0.044 65748 chr20 3869792 3869792 G A rs764726817 PANK2 Synonymous SNV A15A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 65749 chr20 39832318 39832318 G A rs140805732 ZHX3 Synonymous SNV H413H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 65750 chr1 233231571 233231571 T C rs2295744 PCNX2 Synonymous SNV T1292T 0.021 0.034 0.027 5 25 13 0.013 8 0 0 0 0 0.017 65751 chr20 409622 409622 C T rs372540581 RBCK1 Nonsynonymous SNV R276C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 65752 chr20 4155723 4155723 T G rs138030828 SMOX Nonsynonymous SNV S7R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 26.5 65753 chr20 42907667 42907667 G A rs41282022 GDAP1L1 Synonymous SNV L206L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.569 65754 chr11 62494700 62494700 - CGCCGC rs199865096 HNRNPUL2-BSCL2 0.017 0.013 0.01 13 20 5 0.033 3 0 0 0 2 65755 chr11 6238637 6238637 G A rs141812318 FAM160A2 Nonsynonymous SNV R727W 0 0.003 0.007 0 0 1 0 2 0 0 0 0 28.9 65756 chr11 128839405 128839405 C T rs78856194 ARHGAP32 Synonymous SNV Q1538Q 0.004 0.01 0.014 3 5 4 0.008 4 0 0 0 0 0.023 65757 chr11 5424310 5424310 G A rs149426890 OR51J1 Nonsynonymous SNV V162I 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 0.023 65758 chr20 44048972 44048972 A C rs61753669 PIGT Nonsynonymous SNV D155A 0.035 0.031 0.031 6 41 12 0.015 9 0 1 0 0 Benign 26.5 65759 chr11 124747832 124747832 G A ROBO3 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.3 65760 chr20 44540037 44540037 A G rs151157782 PLTP Nonsynonymous SNV F19L 0 0.005 0.01 1 0 2 0.003 3 0 0 0 0 11.8 65761 chr11 609083 609083 G T rs750525402 PHRF1 Synonymous SNV G1209G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.083 65762 chr11 134226244 134226244 G A rs61740182 GLB1L2 Nonsynonymous SNV G203D 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 32 65763 chr11 640004 640099 GCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA - DRD4 R271_P302del 0.012 0.029 0.007 9 14 11 0.023 2 1 4 0 1 65764 chr11 279558 279558 G A rs199475796 NLRP6 Synonymous SNV R87R 0.013 0.005 0 1 15 2 0.003 0 0 0 0 0 not provided 10.82 65765 chr1 237778082 237778082 G A rs41315858 RYR2 Nonsynonymous SNV G1885E 0.014 0.01 0.014 7 16 4 0.018 4 0 0 0 0 Benign 0.002 65766 chr20 49226184 49226184 C T rs201472238 RIPOR3 Nonsynonymous SNV A168T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.82 65767 chr11 64418999 64418999 C G rs146617701 NRXN2 Synonymous SNV L842L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.559 65768 chr11 30032402 30032402 C G rs200225575 KCNA4 Nonsynonymous SNV K608N 0.004 0 0 0 5 0 0 0 0 0 0 0 25.4 65769 chr20 51871665 51871665 G A rs45544736 TSHZ2 Synonymous SNV P553P 0.004 0.013 0.014 4 5 5 0.01 4 0 0 0 0 0.044 65770 chr20 52583523 52583523 T A rs61749687 BCAS1 Synonymous SNV A410A 0.032 0.026 0.01 6 38 10 0.015 3 2 0 0 0 1.007 65771 chr11 64329581 64329581 C T rs140565683 SLC22A11 Synonymous SNV F201F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.14 65772 chr20 52645167 52645167 C A rs61754122 BCAS1 Nonsynonymous SNV V163F 0.028 0.023 0.007 4 33 9 0.01 2 1 0 0 0 22.9 65773 chr11 31159274 31159274 T C rs545578792 DCDC1 Nonsynonymous SNV M427V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.31 65774 chr11 64521031 64521031 C T rs201042910 PYGM Nonsynonymous SNV G367S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 32 65775 chr11 17438477 17438477 C T ABCC8 Nonsynonymous SNV S752N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 65776 chr1 244724092 244724092 G A rs7544794 CATSPERE Synonymous SNV S233S 0.055 0.057 0.041 14 65 22 0.036 12 2 1 1 0 8.605 65777 chr1 244735858 244735858 A G rs10927267 CATSPERE Synonymous SNV T427T 0.056 0.06 0.044 15 66 23 0.038 13 2 1 1 1 0.022 65778 chr11 64794850 64794850 - C rs146720519 ARL2-SNX15 0.066 0.036 0.044 36 77 14 0.092 13 1 0 0 1 65779 chr11 64802388 64802388 A C rs35982635 SNX15 Nonsynonymous SNV H109P 0.02 0.01 0.01 13 24 4 0.033 3 0 0 0 1 14.05 65780 chr11 64806270 64806270 C T rs542175 SNX15 Synonymous SNV D297D 0.066 0.031 0.048 33 78 12 0.085 14 1 0 0 1 11.46 65781 chr11 64807235 64807235 C T rs495820 SNX15 Nonsynonymous SNV R248C 0.066 0.031 0.048 33 78 12 0.085 14 1 0 0 1 23.5 65782 chr11 64807278 64807278 A C rs495935 ARL2-SNX15 0.066 0.031 0.048 33 78 12 0.085 14 1 0 0 1 1.421 65783 chr20 56140824 56140824 G C PCK1 Nonsynonymous SNV E611D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 65784 chr11 64854812 64854812 G A rs35251366 ZFPL1 Nonsynonymous SNV R218Q 0.02 0.01 0.01 13 24 4 0.033 3 0 0 0 1 27.5 65785 chr11 18633897 18633897 T C rs35411689 SPTY2D1 Nonsynonymous SNV K617R 0.022 0.044 0.048 6 26 17 0.015 14 2 1 1 0 23.1 65786 chr20 56814892 56814892 G T rs614507 PPP4R1L 0 0 0.272 0 0 0 0 80 0 0 10 0 13.01 65787 chr11 55681277 55681277 C T rs202102548 OR5W2 Nonsynonymous SNV R261Q 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 22.3 65788 chr11 62985123 62985123 G A rs117914773 SLC22A25 Synonymous SNV L197L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 8.934 65789 chr11 65043463 65043463 C T rs766679577 POLA2 Nonsynonymous SNV S152F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 65790 chr11 65124184 65124184 G A TIGD3 Nonsynonymous SNV R302Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.65 65791 chr11 63176225 63176225 T C SLC22A9 Nonsynonymous SNV V492A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.378 65792 chr11 557577 557577 C T rs146558617 LMNTD2 Nonsynonymous SNV G207R 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 25.1 65793 chr11 65325325 65325325 - CAGCAG rs535365850 LTBP3 L35_G36insLL 0.112 0.109 0.156 58 131 42 0.149 46 15 4 4 11 65794 chr11 56000079 56000079 C T rs77295387 OR5T2 Nonsynonymous SNV A195T 0.016 0.008 0.017 6 19 3 0.015 5 0 0 0 0 20 65795 chr20 60733802 60733802 G A rs115634416 SS18L1 Synonymous SNV T48T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 65796 chr11 63999986 63999986 G C DNAJC4 Nonsynonymous SNV E89Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 65797 chr20 60885845 60885845 G A rs200093098 LAMA5 Nonsynonymous SNV T3441M 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Likely benign 12.76 65798 chr20 60891045 60891045 G A rs144854790 LAMA5 Nonsynonymous SNV A2609V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 65799 chr20 60894001 60894001 G A rs201303962 LAMA5 Nonsynonymous SNV R2314W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 65800 chr11 64071272 64071272 G C rs117629442 CATSPERZ Nonsynonymous SNV E154Q 0.025 0.018 0.003 9 29 7 0.023 1 2 0 0 0 15.8 65801 chr11 65787627 65787627 C T rs139275824 CATSPER1 Synonymous SNV T703T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 9.752 65802 chr11 64519926 64519926 G C rs114138772 PYGM Synonymous SNV L435L 0.004 0.013 0.01 0 5 5 0 3 0 0 0 0 Benign 9.12 65803 chr11 64577552 64577552 C A rs371192390 MEN1 Synonymous SNV L10L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.52 65804 chr20 61512376 61512376 G A rs114534878 DIDO1 Synonymous SNV P1644P 0.017 0.026 0.041 9 20 10 0.023 12 0 0 1 0 6.784 65805 chr1 248202010 248202010 T C rs768736355 OR2L2 Synonymous SNV S147S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.043 65806 chr11 6586929 6586929 A T rs200883480 DNHD1 Nonsynonymous SNV K3587N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.094 65807 chr11 45891687 45891687 G A CRY2 Synonymous SNV Q365Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.059 65808 chr11 66083816 66083816 G A rs149949198 CD248 Nonsynonymous SNV P228L 0 0.005 0 0 0 2 0 0 0 0 0 0 25.8 65809 chr11 18050739 18050739 A G rs769083743 TPH1 Synonymous SNV L214L 0 0.003 0 3 0 1 0.008 0 0 0 0 1 5.349 65810 chr11 64821817 64821817 G A rs149864250 NAALADL1 Synonymous SNV N299N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.371 65811 chr11 66523865 66523865 G A C11orf80 Nonsynonymous SNV A120T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.026 65812 chr20 61917425 61917425 G A rs78818145 ARFGAP1 Nonsynonymous SNV G310R 0.064 0.07 0.075 26 75 27 0.067 22 1 0 2 0 2.061 65813 chr11 64884303 64884303 C A ZNHIT2 Stop gain E275X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 65814 chr11 67059499 67059499 G T rs35965170 ANKRD13D Synonymous SNV R193R 0.026 0.026 0.041 9 31 10 0.023 12 0 0 1 1 9.604 65815 chr11 61959632 61959632 G A rs35254963 SCGB1D1 Nonsynonymous SNV E54K 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 15.62 65816 chr11 18735547 18735547 C T rs142826555 IGSF22 Synonymous SNV T649T 0.014 0.031 0.02 7 16 12 0.018 6 1 0 0 0 15.65 65817 chr11 47261762 47261762 A G rs145420520 ACP2 Nonsynonymous SNV F330L 0.008 0.005 0.014 5 9 2 0.013 4 0 1 0 0 Benign 17.56 65818 chr11 31811392 31811392 T G rs572377074 PAX6 Nonsynonymous SNV K267T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Uncertain significance 0.125 65819 chr11 18955603 18955603 G A rs368710591 MRGPRX1 Synonymous SNV H243H 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 1.673 65820 chr11 62388103 62388103 G A rs1004649913 B3GAT3 Synonymous SNV A41A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.43 65821 chr11 33090362 33090362 C T rs34745218 TCP11L1 Synonymous SNV I428I 0.019 0.013 0.014 7 22 5 0.018 4 1 0 0 0 15.84 65822 chr11 68682320 68682320 C T rs76707931 IGHMBP2 Synonymous SNV A247A 0.017 0.013 0.017 8 20 5 0.021 5 0 0 0 0 Conflicting interpretations of pathogenicity 9.567 65823 chr11 68696694 68696694 C T rs148157556 IGHMBP2 Synonymous SNV Y368Y 0.017 0.013 0.017 8 20 5 0.021 5 0 0 0 0 Conflicting interpretations of pathogenicity 3.206 65824 chr20 62587762 62587762 G T rs142269879 UCKL1-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.209 65825 chr11 20388866 20388866 A C rs180783675 HTATIP2 Synonymous SNV P114P 0.006 0.01 0.003 4 7 4 0.01 1 1 0 0 0 8.351 65826 chr11 62984850 62984850 G A rs143611231 SLC22A25 Stop gain R256X 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 35 65827 chr11 68216478 68216478 C T rs113442867 LRP5 Synonymous SNV T1015T 0.014 0.023 0.031 10 17 9 0.026 9 0 0 1 0 Benign/Likely benign 9.904 65828 chr11 6942589 6942589 C - rs59264610 OR2D3 L121Ffs*13 0.043 0.023 0.041 28 50 9 0.072 12 1 1 0 1 65829 chr11 2188676 2188676 C T rs11564716 TH Synonymous SNV E228E 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 9.229 65830 chr11 56310497 56310497 C T rs72913727 OR5M11 Synonymous SNV P79P 0.049 0.042 0.061 27 58 16 0.069 18 1 0 1 1 12.47 65831 chr11 63486874 63486874 A G RTN3 Synonymous SNV K188K 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 2.916 65832 chr21 15663705 15663705 A - rs372000716 ABCC13 0 0 0.293 0 0 0 0 86 0 0 0 0 65833 chr11 2291195 2291195 T C rs376558492 ASCL2 Nonsynonymous SNV Q123R 0.01 0.01 0.02 2 12 4 0.005 6 1 0 0 0 0.756 65834 chr11 2321991 2321991 A G rs538060871 C11orf21 Synonymous SNV S38S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.003 65835 chr21 16337129 16337129 T C rs377679599 NRIP1 Nonsynonymous SNV M1129V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 65836 chr11 56431834 56431834 A G rs56067375 OR5AR1 Nonsynonymous SNV I225V 0.044 0.039 0.061 27 52 15 0.069 18 1 0 1 1 0.478 65837 chr2 8934091 8934091 A G rs113991487 KIDINS220 Synonymous SNV A376A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.013 65838 chr11 694886 694886 C G rs141389829 DEAF1 Synonymous SNV S54S 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 Benign/Likely benign 15.34 65839 chr11 66468056 66468056 G A rs752516644 SPTBN2 Nonsynonymous SNV H1172Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.195 65840 chr21 27096969 27096969 G A rs377177728 ATP5PF Synonymous SNV I103I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 65841 chr11 26210781 26210781 C T rs118112197 ANO3 Nonsynonymous SNV H20Y 0.042 0.031 0 13 49 12 0.033 0 3 0 0 0 11.46 65842 chr11 56468258 56468258 C T rs78340277 OR9G1, OR9G9 Nonsynonymous SNV A132V 0.016 0.008 0.007 6 19 3 0.015 2 0 0 0 0 22.8 65843 chr11 64120835 64120835 C T rs61746624 CCDC88B Synonymous SNV L1234L 0.013 0.026 0.007 3 15 10 0.008 2 0 0 0 0 Benign 12.5 65844 chr11 6415616 6415616 G A rs149939736 SMPD1 Nonsynonymous SNV V515I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.65 65845 chr21 31654638 31654638 C T rs78287602 KRTAP24-1 Nonsynonymous SNV V205M 0.023 0.034 0.031 4 27 13 0.01 9 1 0 0 0 0.706 65846 chr11 27147324 27147324 C A rs139242616 BBOX1 Synonymous SNV L320L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.57 65847 chr11 73429873 73429873 G A RAB6A Synonymous SNV Y49Y 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 6.29 65848 chr21 31691792 31691792 G T rs12483584 KRTAP26-1 Nonsynonymous SNV P188T 0.02 0.034 0.031 4 24 13 0.01 9 1 0 0 0 15.91 65849 chr11 4407001 4407001 G T rs368467083 TRIM21 Synonymous SNV T314T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.017 65850 chr21 31692277 31692277 G T rs3804007 KRTAP26-1 Nonsynonymous SNV S26Y 0.06 0.06 0.095 22 70 23 0.056 28 4 0 1 0 23.4 65851 chr2 11706672 11706672 C T rs142882892 GREB1 Nonsynonymous SNV A115V 0.018 0.023 0.02 4 21 9 0.01 6 1 0 0 0 25.5 65852 chr11 64534503 64534505 GGC - rs71581802 SF1 P370del 0.012 0.008 0.01 2 14 3 0.005 3 0 0 0 0 65853 chr11 64568655 64568655 G C rs777422213 MAP4K2 Nonsynonymous SNV A153G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.1 65854 chr21 31709703 31709703 C T rs117534873 KRTAP27-1 Nonsynonymous SNV C95Y 0.02 0.034 0.027 4 24 13 0.01 8 1 0 0 0 15.36 65855 chr11 681078 681078 G C rs35887544 DEAF1 Synonymous SNV V52V 0.014 0.023 0.017 5 16 9 0.013 5 0 0 0 0 Benign 10.73 65856 chr11 64597261 64597261 G A rs71539692 CDC42BPG Nonsynonymous SNV R1217C 0.009 0.01 0.014 3 10 4 0.008 4 0 0 1 0 34 65857 chr11 71628688 71628688 C T rs73527742 LOC100133315 0.009 0.016 0.003 5 10 6 0.013 1 0 0 0 1 23.6 65858 chr11 281692 281692 G C rs148388963 NLRP6 Nonsynonymous SNV R653P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 22.5 65859 chr11 71932697 71932697 C T rs140546240 FOLR2 Nonsynonymous SNV A220V 0 0.003 0 0 0 1 0 0 0 0 0 0 24 65860 chr11 68673630 68673630 C T rs34617762 IGHMBP2 Synonymous SNV Y60Y 0.026 0.023 0.024 24 30 9 0.062 7 0 0 0 0 Conflicting interpretations of pathogenicity 11.77 65861 chr21 33719419 33719419 G A rs776017303 URB1 Synonymous SNV L1238L 0.006 0 0.01 0 7 0 0 3 0 0 0 0 0.062 65862 chr11 57144369 57144369 C T rs756413130 PRG3 Nonsynonymous SNV R211Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.51 65863 chr11 64813935 64813935 C A rs138345812 NAALADL1 Nonsynonymous SNV D555Y 0.009 0.01 0.014 3 11 4 0.008 4 0 0 1 0 23.4 65864 chr11 764414 764414 A G rs11302 TALDO1 Nonsynonymous SNV K321R 0.011 0.003 0.01 1 13 1 0.003 3 0 0 0 0 Benign/Likely benign 26.9 65865 chr11 56143715 56143715 A G rs78460947 OR8U1, OR8U8 Nonsynonymous SNV M206V 0.01 0.008 0.014 5 12 3 0.013 4 0 0 0 0 0.081 65866 chr11 73809278 73809278 G A rs17132707 C2CD3 Synonymous SNV L919L 0.014 0.021 0.01 6 16 8 0.015 3 1 0 0 0 11.03 65867 chr11 73850653 73850653 G A rs149910292 C2CD3 Nonsynonymous SNV P235L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 15.63 65868 chr11 57428528 57428528 C T rs150146614 CLP1 Nonsynonymous SNV R236C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 26.8 65869 chr11 65124183 65124183 C T rs751814813 TIGD3 Nonsynonymous SNV R302W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.4 65870 chr21 34926281 34926281 C A SON Nonsynonymous SNV P1582T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 65871 chr2 20870531 20870531 G A rs192407174 GDF7 Synonymous SNV L233L 0.01 0.018 0.02 3 12 7 0.008 6 1 0 0 0 6.847 65872 chr2 20870532 20870532 C A rs184953707 GDF7 Nonsynonymous SNV L234M 0.01 0.018 0.02 3 12 7 0.008 6 1 0 0 0 23.6 65873 chr2 21224614 21224614 A G rs72654427 APOB Synonymous SNV T4560T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.498 65874 chr11 7083733 7083733 G A rs760582180 NLRP14 Nonsynonymous SNV G992R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 65875 chr11 65346853 65346853 C T rs200668380 EHBP1L1 Synonymous SNV G68G 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 14.13 65876 chr11 76938960 76938960 G A rs549224703 GDPD4 Nonsynonymous SNV R492W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.51 65877 chr11 74883539 74883539 G A rs138672390 SLCO2B1 Synonymous SNV K155K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.239 65878 chr11 562408 562408 T C rs201977289 RASSF7 Nonsynonymous SNV C152R 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Likely benign 0.003 65879 chr11 7723002 7723002 A G rs117143114 OVCH2 Synonymous SNV L194L 0.017 0.01 0.014 7 20 4 0.018 4 0 0 0 1 0.693 65880 chr2 23919231 23919231 T C KLHL29 Synonymous SNV A651A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.251 65881 chr11 65385507 65385507 C T rs780814514 PCNX3 Nonsynonymous SNV A225V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.13 65882 chr11 65414476 65414476 C G rs905362321 SIPA1 Nonsynonymous SNV I657M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.3 65883 chr11 58346938 58346943 GCCGCC - rs570278763 ZFP91 A66_A67del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 65884 chr11 58346953 58346953 G A rs143372783 ZFP91 Nonsynonymous SNV A67T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.9 65885 chr21 40250361 40250361 - A rs11464500 LOC400867 0 0 0.224 0 0 0 0 66 0 0 17 0 65886 chr11 72945651 72945651 C T rs147817701 P2RY2 Synonymous SNV Y149Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.567 65887 chr11 7324501 7324501 C G rs372836186 SYT9 Nonsynonymous SNV S126C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.7 65888 chr21 40984446 40984446 C G rs671324 B3GALT5-AS1 0 0 0.51 0 0 0 0 150 0 0 42 0 7.24 65889 chr2 26663349 26663349 C T rs143181834 DRC1 Nonsynonymous SNV T331I 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 24.2 65890 chr11 74053959 74053959 C G rs769563330 PGM2L1 Nonsynonymous SNV L471F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 65891 chr2 26689997 26689997 G A rs149236286 OTOF Synonymous SNV T754T 0.02 0.013 0.024 6 23 5 0.015 7 1 0 0 0 Benign/Likely benign 11.43 65892 chr2 26697422 26697422 C G rs80356574 OTOF Nonsynonymous SNV A393P 0.02 0.013 0.02 6 23 5 0.015 6 1 0 0 0 Benign/Likely benign 22.6 65893 chr2 26697480 26697480 C T rs80356573 OTOF Synonymous SNV A373A 0.02 0.013 0.02 6 23 5 0.015 6 1 0 0 0 Conflicting interpretations of pathogenicity 19.96 65894 chr2 26700099 26700099 G A rs80356570 OTOF Nonsynonymous SNV R132W 0.02 0.013 0.02 6 23 5 0.015 6 1 0 0 0 Benign/Likely benign 32 65895 chr11 74347277 74347277 C T rs1049213237 POLD3 Synonymous SNV R346R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.03 65896 chr21 43221797 43221797 G C rs2236695 PRDM15 Nonsynonymous SNV T1047S 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 13.18 65897 chr21 43279316 43279316 G A rs116291688 PRDM15 Synonymous SNV H351H 0.008 0.003 0.014 3 9 1 0.008 4 0 0 0 0 2.668 65898 chr11 75509352 75509352 G A rs140793537 DGAT2 Nonsynonymous SNV R254Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 27.9 65899 chr2 27604481 27604483 CTT - rs756332441 PPM1G K542del 0.003 0 0.014 0 4 0 0 4 0 0 0 0 65900 chr11 85437948 85437948 C G SYTL2 Nonsynonymous SNV S818T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.601 65901 chr11 57512571 57512573 CTC - rs771975160 BTBD18 G391del 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 65902 chr11 82642772 82642772 A C rs777825955 DDIAS 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 65903 chr21 44185600 44185600 C T rs151254797 PDE9A Nonsynonymous SNV T234I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.1 65904 chr11 8662219 8662219 G A rs201023559 TRIM66 Nonsynonymous SNV A423V 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 14.78 65905 chr11 85438948 85438948 G A rs151237624 SYTL2 Nonsynonymous SNV R484C 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 22.3 65906 chr11 7721974 7721974 C T rs61759818 OVCH2 Nonsynonymous SNV G257D 0.018 0.021 0.034 5 21 8 0.013 10 0 0 0 0 33 65907 chr21 45557143 45557143 C T rs61737073 GATD3A, GATD3B Synonymous SNV A45A 0.009 0.008 0.014 5 11 3 0.013 4 0 0 0 0 Benign 17.25 65908 chr11 67812456 67812456 G C rs758621844 TCIRG1 Nonsynonymous SNV R135P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 32 65909 chr11 61089771 61089771 C T rs28720291 DDB1 Synonymous SNV G373G 0.009 0.008 0 8 11 3 0.021 0 0 0 0 0 Benign 14.73 65910 chr11 55322818 55322818 G T rs72908448 OR4C15 Stop gain E292X 0.004 0.005 0 0 5 2 0 0 0 0 0 0 39 65911 chr11 47788731 47788731 G C rs112054219 FNBP4 Nonsynonymous SNV T37S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.002 65912 chr2 31606670 31606670 G A rs4407290 XDH Synonymous SNV V279V 0.046 0.052 0.051 14 54 20 0.036 15 1 2 0 1 Likely benign 9.305 65913 chr11 78413100 78413100 T C rs199624205 TENM4 Nonsynonymous SNV N1520D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 15.46 65914 chr11 69063119 69063119 G A rs367657249 MYEOV Nonsynonymous SNV V10M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.341 65915 chr2 37255081 37255081 G C rs747947910 HEATR5B Nonsynonymous SNV L1280V 0.003 0 0 0 4 0 0 0 0 0 0 0 15.87 65916 chr11 8061219 8061219 G A rs75997657 TUB Synonymous SNV K61K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.43 65917 chr11 61897806 61897806 G T rs35656141 INCENP Synonymous SNV S269S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 4.811 65918 chr11 56000072 56000072 A G rs751166185 OR5T2 Nonsynonymous SNV I197T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.259 65919 chr11 59480969 59480969 A G rs472177 OR10V1 Nonsynonymous SNV V117A 0.023 0.021 0.02 7 27 8 0.018 6 0 0 1 0 2.334 65920 chr11 59481119 59481119 G T rs74398490 OR10V1 Nonsynonymous SNV A67E 0.014 0.021 0.01 4 17 8 0.01 3 0 0 1 0 24.5 65921 chr11 59612859 59612859 T C rs35211634 CBLIF Nonsynonymous SNV Q23R 0.018 0.021 0.02 7 21 8 0.018 6 0 0 0 0 Benign 0.002 65922 chr11 5602951 5602951 G A rs201247898 OR52B6 Nonsynonymous SNV R282K 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 16.26 65923 chr2 39088761 39088761 A G rs141972132 DHX57 Nonsynonymous SNV I162T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.14 65924 chr11 62519565 62519565 G C rs544641 ZBTB3 Nonsynonymous SNV I524M 0.04 0.021 0.024 12 47 8 0.031 7 0 0 1 0 11.61 65925 chr11 71729168 71729168 G A rs185422042 LOC100128494 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 3.958 65926 chr11 93554285 93554285 G A VSTM5 Nonsynonymous SNV T99I 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 28.6 65927 chr11 72535805 72535805 T C rs199726953 ATG16L2 Nonsynonymous SNV I199T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 65928 chr22 17528214 17528214 G C rs56040494 CECR7 0 0 0.058 0 0 0 0 17 0 0 0 0 0.672 65929 chr22 17581302 17581302 G A rs552176381 IL17RA Nonsynonymous SNV V161I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 65930 chr11 6265492 6265492 C T rs61733955 CNGA4 Synonymous SNV Y527Y 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 8.796 65931 chr2 42991200 42991200 C G rs34142793 OXER1 Nonsynonymous SNV M40I 0.03 0.018 0.014 10 35 7 0.026 4 0 1 0 0 23.1 65932 chr11 73076450 73076450 G T rs376869192 ARHGEF17 Nonsynonymous SNV G1856C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 65933 chr22 17618937 17618937 G A rs35327402 HDHD5 Nonsynonymous SNV R386C 0.019 0.018 0.014 5 22 7 0.013 4 0 0 0 0 Likely benign 23.1 65934 chr11 62848585 62848585 C A rs142507239 SLC22A24 Nonsynonymous SNV A469S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 65935 chr22 18080962 18080962 G A rs73391487 ATP6V1E1 Synonymous SNV D154D 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 Benign/Likely benign 3.678 65936 chr2 43804334 43804334 C T rs149038509 THADA Synonymous SNV E288E 0.036 0.031 0.02 18 42 12 0.046 6 0 0 0 1 9.087 65937 chr2 43924417 43924417 C T rs142153423 PLEKHH2 Nonsynonymous SNV P204S 0.026 0.023 0.007 10 31 9 0.026 2 0 1 0 0 15.54 65938 chr2 44065090 44065090 G A rs6756629 ABCG5 Nonsynonymous SNV R50C 0.049 0.042 0.085 21 58 16 0.054 25 0 0 2 1 Benign/Likely benign 23 65939 chr2 44066247 44066247 G C rs11887534 ABCG8 Nonsynonymous SNV D19H 0.049 0.042 0.085 22 58 16 0.056 25 0 0 2 1 Benign/Likely benign, risk factor 22.7 65940 chr11 60705470 60705470 G A rs143864458 SLC15A3 Nonsynonymous SNV P488L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 34 65941 chr2 44078853 44078853 G A rs56132765 ABCG8 Synonymous SNV V151V 0.056 0.049 0.078 21 66 19 0.054 23 0 0 1 1 Benign/Likely benign 11.17 65942 chr11 75141477 75141477 G T rs1001299251 KLHL35 Nonsynonymous SNV F66L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 65943 chr11 902208 902208 G A rs147635775 CHID1 Synonymous SNV D128D 0.026 0.018 0.017 7 30 7 0.018 5 0 0 0 1 14.64 65944 chr22 20102205 20102205 C A rs775132876 TRMT2A Nonsynonymous SNV K375N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 65945 chr2 47637301 47637301 T G rs63750124 MSH2 Nonsynonymous SNV I145M 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.74 65946 chr11 55340172 55340172 C A rs200869498 OR4C16 Nonsynonymous SNV T190N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.1 65947 chr11 61257355 61257355 G C rs12787061 PPP1R32 Nonsynonymous SNV S362T 0.03 0.023 0.034 17 35 9 0.044 10 0 0 0 1 0.002 65948 chr2 54001603 54001603 G A rs757140753 CHAC2 Nonsynonymous SNV A166T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.98 65949 chr12 102159882 102159882 G A rs758268022 GNPTAB Synonymous SNV G533G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 65950 chr12 10224073 10224073 T G rs77910243 CLEC1A Nonsynonymous SNV R142S 0.015 0.01 0.003 5 18 4 0.013 1 0 1 0 0 15.51 65951 chr11 64368384 64368384 C T rs138485972 SLC22A12 Synonymous SNV P416P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.1 65952 chr11 76913457 76913457 A G rs77625410 MYO7A Nonsynonymous SNV Y1719C 0.014 0.013 0.003 4 17 5 0.01 1 0 0 0 0 Benign/Likely benign 25.2 65953 chr11 76924985 76924985 C T rs111033230 MYO7A Synonymous SNV N2173N 0.018 0.005 0.007 4 21 2 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.577 65954 chr11 76956467 76956467 A T rs143740353 GDPD4 Synonymous SNV A315A 0.018 0.005 0.007 4 21 2 0.01 2 0 0 0 0 1.851 65955 chr11 76982175 76982175 C G rs143423593 GDPD4 Nonsynonymous SNV V134L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 13.68 65956 chr11 77090939 77090939 C T rs1130059 PAK1 Synonymous SNV T97T 0.02 0.008 0.003 6 23 3 0.015 1 0 0 0 0 15.36 65957 chr11 556938 556938 G A rs754006542 LMNTD2 Synonymous SNV G291G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.504 65958 chr22 23237860 23237860 A G rs28477498 IGLL5 Nonsynonymous SNV T136A 0.033 0.031 0.041 14 39 12 0.036 12 0 0 0 1 0.001 65959 chr2 55812201 55812201 G C rs61762670 PPP4R3B Nonsynonymous SNV Q407E 0.02 0.021 0.01 3 23 8 0.008 3 0 0 0 0 22.2 65960 chr22 24034671 24034671 T C rs149062685 RGL4 Nonsynonymous SNV L110P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 20.2 65961 chr2 61148919 61148919 A G rs778786653 REL Nonsynonymous SNV D338G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.021 65962 chr2 61259051 61259051 G A rs372891216 PEX13 Nonsynonymous SNV R197Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.64 65963 chr11 62378607 62378607 C - EML3 G136Afs*47 0.001 0 0 0 1 0 0 0 0 0 0 0 65964 chr12 107974744 107974744 G A rs147063979 BTBD11 Nonsynonymous SNV G21R 0.015 0.021 0.01 4 18 8 0.01 3 0 0 0 0 21.5 65965 chr22 24238079 24238079 T A rs34383331 MIF-AS1 0 0 0.112 0 0 0 0 33 0 0 1 0 0.152 65966 chr22 24628063 24628063 G A rs200437428 GGT5 Nonsynonymous SNV T160M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 65967 chr12 109182881 109182881 G A rs116903144 SSH1 Nonsynonymous SNV T678I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.1 65968 chr11 56058358 56058358 A G rs114602656 OR8H1 Nonsynonymous SNV F61L 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 23.6 65969 chr12 109617728 109617728 A G rs16940029 ACACB Nonsynonymous SNV I552V 0.014 0.008 0.051 7 17 3 0.018 15 1 0 0 0 8.062 65970 chr22 24810675 24810675 T - rs1015396951 SPECC1L-ADORA2A 0 0 0.003 0 0 0 0 1 0 0 0 0 65971 chr2 65296657 65296657 A G rs12611491 CEP68 Nonsynonymous SNV R27G 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 0.088 65972 chr22 25124143 25124143 C T rs73152579 PIWIL3 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 13.4 65973 chr11 6262909 6262909 G A rs61745230 CNGA4 Nonsynonymous SNV R389Q 0.032 0.023 0.02 7 37 9 0.018 6 1 0 0 0 25.1 65974 chr2 65315711 65315711 G A rs2227268 RAB1A Synonymous SNV P102P 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 8.237 65975 chr12 109644616 109644616 C T rs17848814 ACACB Synonymous SNV N1005N 0.012 0.013 0.034 2 14 5 0.005 10 0 0 0 0 13.98 65976 chr11 63143153 63143153 C A rs200498139 SLC22A9 Nonsynonymous SNV N289K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.83 65977 chr12 111345219 111345219 G T rs116604830 CCDC63 Nonsynonymous SNV R465L 0.012 0.016 0.014 2 14 6 0.005 4 0 0 0 0 9.946 65978 chr11 63742263 63742263 C A rs61759492 COX8A Synonymous SNV I37I 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 Benign 13.86 65979 chr2 71212365 71212365 T C rs755507704 ANKRD53 Nonsynonymous SNV F510L 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 28.3 65980 chr22 30856121 30856121 G A rs35764129 SEC14L3 Nonsynonymous SNV R364C 0.022 0.018 0.024 5 26 7 0.013 7 0 0 0 0 24.3 65981 chr11 57094312 57094312 G C rs535315984 SSRP1 Synonymous SNV S641S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.577 65982 chr11 6568073 6568073 C T rs149659254 DNHD1 Synonymous SNV S1968S 0.007 0 0 1 8 0 0.003 0 0 0 0 0 Benign 1.4 65983 chr2 71740958 71740958 T C rs35392229 DYSF Synonymous SNV P191P 0.043 0.021 0.027 7 51 8 0.018 8 3 0 0 0 Benign/Likely benign 0.143 65984 chr2 73492513 73492513 G A rs377102830 FBXO41 Synonymous SNV S487S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.417 65985 chr11 64129426 64129426 C A rs555307847 RPS6KA4 Synonymous SNV G286G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 19.95 65986 chr22 32651306 32651306 G A rs16990065 SLC5A4 Nonsynonymous SNV T4M 0.016 0.016 0.017 7 19 6 0.018 5 0 0 0 0 23.8 65987 chr22 32665507 32665507 C T rs12158434 SLC5A4-AS1 0 0 0.044 0 0 0 0 13 0 0 0 0 9.667 65988 chr22 32667507 32667507 G A rs5753904 SLC5A4-AS1 0 0 0.357 0 0 0 0 105 0 0 20 0 10.6 65989 chr12 108912399 108912399 A C rs77241670 FICD Nonsynonymous SNV K175T 0.012 0.01 0.003 4 14 4 0.01 1 0 0 0 0 Benign 3.513 65990 chr22 34000460 34000460 G A rs36002910 LARGE1 Synonymous SNV P192P 0.033 0.018 0.034 9 39 7 0.023 10 0 0 0 0 Benign 15.24 65991 chr12 113730816 113730816 C T rs144613390 TPCN1 Nonsynonymous SNV R663W 0.008 0.018 0 4 9 7 0.01 0 0 0 0 0 Benign 20.3 65992 chr11 6636154 6636154 G A rs117942457 TPP1 Synonymous SNV P498P 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 Benign/Likely benign 6.575 65993 chr12 114397024 114397024 G C rs777116966 RBM19 Nonsynonymous SNV D188E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 65994 chr11 67049771 67049771 C T GRK2 Synonymous SNV G329G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.4 65995 chr11 67079076 67079076 C T rs78252461 SSH3 Synonymous SNV H566H 0.015 0.023 0.024 8 18 9 0.021 7 1 1 0 0 9.437 65996 chr11 67173422 67173422 G A rs78320186 TBC1D10C Nonsynonymous SNV R171Q 0.015 0.026 0.027 8 18 10 0.021 8 1 1 0 0 11.19 65997 chr12 118636828 118636828 C T rs370082014 TAOK3 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.969 65998 chr12 109872909 109872909 C T rs34725387 MYO1H Nonsynonymous SNV H695Y 0.073 0.073 0.116 39 86 28 0.1 34 4 1 2 2 26.4 65999 chr11 58980169 58980169 A G MPEG1 Nonsynonymous SNV V57A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 66000 chr11 5906117 5906117 A G rs61876191 OR52E4 Nonsynonymous SNV I199V 0.009 0.005 0.007 0 11 2 0 2 0 0 0 0 13.57 66001 chr12 110434014 110434014 G A rs747587627 GIT2 Nonsynonymous SNV R6W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 66002 chr2 85893842 85893842 C T rs34682912 SFTPB Synonymous SNV E97E 0.01 0.005 0.003 4 12 2 0.01 1 0 0 0 1 Benign/Likely benign 7.862 66003 chr11 59224623 59224623 C T rs147019373 OR4D6 Nonsynonymous SNV R64W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 66004 chr11 94278158 94278158 C T rs970664718 FUT4 Nonsynonymous SNV P287S 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 23 66005 chr11 68193582 68193582 G A rs117289001 LRP5 Synonymous SNV R607R 0.009 0.013 0.017 5 10 5 0.013 5 0 0 0 0 Benign 10.25 66006 chr2 86398377 86398377 A G rs11537825 IMMT Synonymous SNV T171T 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Benign 3.115 66007 chr11 68377475 68377475 A G rs79540432 PPP6R3 Nonsynonymous SNV S732G 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 18.79 66008 chr11 65366077 65366077 C T rs775219665 MAP3K11 Synonymous SNV P743P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 66009 chr11 556333 556335 CTT - rs771566028 LMNTD2 K372del 0 0 0 1 0 0 0.003 0 0 0 0 0 66010 chr11 65408583 65408583 C T rs200828887 SIPA1 Nonsynonymous SNV T64M 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 23.6 66011 chr22 38823838 38823838 C T rs79928737 KCNJ4 Synonymous SNV A100A 0.008 0.01 0.024 10 9 4 0.026 7 0 0 0 0 5.909 66012 chr12 122217439 122217439 G A rs199516995 RHOF Nonsynonymous SNV R201W 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 23.3 66013 chr12 122687884 122687884 G A rs778478524 LRRC43 Synonymous SNV P622P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.65 66014 chr22 39832307 39832307 A - rs370640084 LOC100506472 0 0 0.061 0 0 0 0 18 0 0 1 0 66015 chr11 60636633 60636633 G A rs140966353 ZP1 Nonsynonymous SNV R71Q 0.013 0.013 0.024 4 15 5 0.01 7 0 0 0 0 7.046 66016 chr22 40815089 40815089 G C rs8135911 MRTFA Synonymous SNV P451P 0.034 0.031 0.027 12 40 12 0.031 8 0 1 0 0 0.01 66017 chr22 41075532 41075532 A T rs112405400 MCHR1 Nonsynonymous SNV D28V 0.025 0.018 0.017 4 29 7 0.01 5 0 0 0 0 13.92 66018 chr12 123057792 123057792 A G rs61751322 KNTC1 Nonsynonymous SNV H748R 0.08 0.083 0.075 32 94 32 0.082 22 2 3 1 1 20.2 66019 chr12 123087284 123087284 C A rs755131976 KNTC1 Nonsynonymous SNV L1608I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.29 66020 chr22 41077895 41077895 C T rs149604804 MCHR1 Nonsynonymous SNV T411M 0.029 0.013 0.014 2 34 5 0.005 4 0 0 0 0 23.1 66021 chr11 6578792 6578792 T C rs112656142 DNHD1 Nonsynonymous SNV V2756A 0.015 0.016 0.014 2 18 6 0.005 4 0 0 0 0 0.001 66022 chr22 41634305 41634305 C T rs112498469 CHADL Synonymous SNV R257R 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 15.47 66023 chr12 10066205 10066205 T A rs138914180 CLEC2A Nonsynonymous SNV D162V 0.009 0.021 0.017 2 10 8 0.005 5 0 0 0 0 19.68 66024 chr12 123463674 123463674 G A OGFOD2 Synonymous SNV V114V 0.004 0.013 0.003 1 5 5 0.003 1 0 0 0 0 12.04 66025 chr22 41735125 41735125 C G ZC3H7B Nonsynonymous SNV T249S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.012 66026 chr11 70319538 70319538 C T rs139247945 SHANK2 Synonymous SNV P1074P 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Likely benign 13.96 66027 chr11 6579106 6579106 C T rs11040920 DNHD1 Nonsynonymous SNV H2861Y 0.015 0.016 0.003 2 18 6 0.005 1 0 0 0 0 22.6 66028 chr11 6588256 6588256 G A rs12418976 DNHD1 Synonymous SNV Q3839Q 0.015 0.016 0.014 2 18 6 0.005 4 0 0 0 0 0.374 66029 chr12 124840027 124840029 GAG - NCOR2 S1101del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 66030 chr22 42761039 42761039 T C rs191020909 LINC01315 0 0 0.007 0 0 0 0 2 0 0 0 0 0.091 66031 chr11 66133966 66133966 G A rs146921129 SLC29A2 Nonsynonymous SNV P268L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.827 66032 chr11 72946308 72946308 T A rs17244555 P2RY2 Synonymous SNV G368G 0.022 0.023 0.007 14 26 9 0.036 2 0 0 0 1 0.067 66033 chr12 125348263 125348263 C T rs4238001 SCARB1 Nonsynonymous SNV G2S 0.175 0.161 0.136 54 205 62 0.138 40 18 6 6 2 26.9 66034 chr12 10319485 10319485 G C rs149425676 OLR1 Nonsynonymous SNV Q84E 0 0.003 0 0 0 1 0 0 0 0 0 0 18.95 66035 chr11 73020933 73020933 G A rs374129335 ARHGEF17 Nonsynonymous SNV R417H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.2 66036 chr11 61257987 61257987 C G rs117869943 PPP1R32 Nonsynonymous SNV A388G 0.005 0 0.014 4 6 0 0.01 4 0 0 0 0 6.701 66037 chr12 12630140 12630140 T G rs139231748 DUSP16 Nonsynonymous SNV D542A 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 17.9 66038 chr11 73689045 73689045 G A rs375026723 UCP2 Nonsynonymous SNV P75S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.4 66039 chr12 126139163 126139163 C T rs61756702 TMEM132B Synonymous SNV S560S 0.069 0.063 0.041 31 81 24 0.079 12 3 1 0 0 14.81 66040 chr11 67074393 67074393 G A rs61731165 SSH3 Nonsynonymous SNV D142N 0.02 0.013 0.031 9 24 5 0.023 9 0 0 0 0 11.17 66041 chr11 67172911 67172911 C T rs61734600 TBC1D10C Synonymous SNV R98R 0.035 0.042 0.02 11 41 16 0.028 6 1 1 0 0 10.08 66042 chr2 101670766 101670766 G A rs375402612 TBC1D8 Synonymous SNV L130L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.75 66043 chr11 67191346 67191346 C T rs3741180 CARNS1 Synonymous SNV A586A 0.022 0.042 0.014 9 26 16 0.023 4 1 1 0 0 10.63 66044 chr12 129822317 129822317 C T rs150095683 TMEM132D Synonymous SNV V387V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 6.531 66045 chr12 130927011 130927011 C T rs148429220 RIMBP2 Nonsynonymous SNV D279N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.189 66046 chr12 13211471 13211471 G A rs117039796 FAM234B Nonsynonymous SNV G174R 0.017 0.01 0.007 7 20 4 0.018 2 1 0 0 0 13.17 66047 chr12 132240010 132240010 G A rs34541796 SFSWAP Nonsynonymous SNV G512S 0.005 0.01 0 0 6 4 0 0 0 0 0 0 6.721 66048 chr11 75316921 75316921 C T rs625702 MAP6 Synonymous SNV P416P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 8.878 66049 chr22 46931402 46931402 G C rs11575871 CELSR1 Nonsynonymous SNV L556V 0.028 0.044 0.065 16 33 17 0.041 19 1 2 0 1 0.695 66050 chr11 58893541 58893541 A G rs753344023 FAM111B Synonymous SNV A627A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.064 66051 chr12 123461284 123461284 G A rs36004829 OGFOD2 Synonymous SNV P91P 0.011 0.018 0.014 2 13 7 0.005 4 0 0 0 0 4.711 66052 chr12 108105893 108105893 G A rs11547909 PWP1 Nonsynonymous SNV E406K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24 66053 chr12 123470636 123470636 C T rs537872858 PITPNM2 Nonsynonymous SNV G1324S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 66054 chr12 123480034 123480034 G A rs61751326 PITPNM2 Synonymous SNV N652N 0.011 0.018 0.017 2 13 7 0.005 5 0 0 0 0 5.105 66055 chr12 132464250 132464250 C T rs566675522 EP400 Synonymous SNV L449L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.3 66056 chr12 123738494 123738494 C T rs2280424 C12orf65 Synonymous SNV I91I 0.043 0.044 0.034 22 51 17 0.056 10 1 0 0 1 Benign 16.47 66057 chr12 123794104 123794104 G T rs3825141 SBNO1 Synonymous SNV R1157R 0.043 0.044 0.034 22 50 17 0.056 10 1 0 0 1 10.73 66058 chr2 108921036 108921036 T C rs17036091 SULT1C2 Nonsynonymous SNV Y128H 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 27.6 66059 chr12 123799938 123799938 C T rs61751327 SBNO1 Synonymous SNV R1034R 0.043 0.044 0.027 22 50 17 0.056 8 1 0 0 1 16.53 66060 chr12 132633435 132633435 - CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC NOC4L Frameshift insertion G302Efs*23 0.014 0.023 0.01 15 16 9 0.038 3 3 1 0 2 66061 chr11 59189497 59189497 G A rs368372474 OR5A2 Synonymous SNV P310P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 7.806 66062 chr12 124831330 124831330 C T rs372172146 NCOR2 Nonsynonymous SNV R1370Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 66063 chr22 50699625 50699625 G A rs138533200 MAPK12 Nonsynonymous SNV R76C 0.009 0.003 0.014 3 10 1 0.008 4 0 0 0 0 35 66064 chr11 7721983 7721983 G C OVCH2 Nonsynonymous SNV T254S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 66065 chr12 133295353 133295353 C T rs12423651 PGAM5 Nonsynonymous SNV P242L 0.028 0.023 0.017 19 33 9 0.049 5 0 0 0 0 4.62 66066 chr11 695779 695779 G T TMEM80 Synonymous SNV G57G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.716 66067 chr12 133384641 133384641 C T rs769753415 GOLGA3 Synonymous SNV T338T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 66068 chr22 50941917 50941917 G A rs151011980 LMF2 Nonsynonymous SNV P651L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.944 66069 chr22 50942271 50942271 G A rs143363806 LMF2 Nonsynonymous SNV T569M 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.527 66070 chr12 110565250 110565250 A C rs151311859 IFT81 Nonsynonymous SNV N22T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 22.7 66071 chr11 7111136 7111136 G T rs151210091 RBMXL2 Nonsynonymous SNV G262V 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 24.3 66072 chr11 78433850 78433850 G A rs181990145 TENM4 Synonymous SNV N1221N 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Benign 9.37 66073 chr22 51160617 51160617 C T rs530029288 SHANK3 Synonymous SNV A1438A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 66074 chr11 6023550 6023550 A G rs78629945 OR56A4 Synonymous SNV L225L 0.009 0 0.007 0 10 0 0 2 0 0 0 0 0.574 66075 chr11 71724424 71724424 G A rs34175433 NUMA1 Synonymous SNV A1375A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.313 66076 chr2 10186475 10186475 G A rs200260496 KLF11 Nonsynonymous SNV V64I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 66077 chr2 125281910 125281910 C T rs17727261 CNTNAP5 Nonsynonymous SNV S453L 0.044 0.052 0.078 19 52 20 0.049 23 3 0 1 0 23.1 66078 chr12 18435220 18435220 C T rs201018498 PIK3C2G Nonsynonymous SNV P69S 0 0.005 0 0 0 2 0 0 0 0 0 0 8.04 66079 chr12 2058419 2058419 C T rs747504838 DCP1B Nonsynonymous SNV V536I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 66080 chr2 10350599 10350599 G C rs7423163 C2orf48 0 0 0.068 0 0 0 0 20 0 0 0 0 11.49 66081 chr2 128185995 128185995 G A rs764737827 PROC Nonsynonymous SNV V287I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 66082 chr12 132329723 132329723 G C rs35272225 MMP17 Synonymous SNV R343R 0.078 0.063 0.078 21 91 24 0.054 23 3 0 0 2 3.75 66083 chr11 8435157 8435157 T C rs763109430 STK33 Nonsynonymous SNV E223G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 66084 chr2 128383105 128383105 G A rs368090832 MYO7B Nonsynonymous SNV A1378T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.706 66085 chr11 64600360 64600362 GGA - rs779650631 CDC42BPG L934del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 66086 chr12 132510312 132510312 G A rs113935522 EP400 Synonymous SNV P1659P 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign 7.367 66087 chr2 107460348 107460348 T A rs118018738 ST6GAL2 Nonsynonymous SNV Y29F 0.014 0.013 0.014 8 16 5 0.021 4 0 0 0 0 24.1 66088 chr12 113612455 113612455 T C rs147338699 DDX54 Nonsynonymous SNV Y353C 0.017 0.026 0.017 0 20 10 0 5 0 0 0 0 24.7 66089 chr2 109405384 109405384 A G rs79377757 CCDC138 Synonymous SNV T71T 0.015 0.013 0.027 5 18 5 0.013 8 0 1 0 0 0.004 66090 chr2 109524409 109524409 G A rs3749099 EDAR Synonymous SNV P290P 0.016 0.01 0.024 5 19 4 0.013 7 0 1 0 0 Benign 12 66091 chr2 109524466 109524466 A G rs3749098 EDAR Synonymous SNV D271D 0.014 0.01 0.024 5 17 4 0.013 7 0 1 0 0 Benign 0.042 66092 chr2 109527239 109527239 C T rs3749108 EDAR Synonymous SNV E241E 0.014 0.01 0.024 5 17 4 0.013 7 0 1 0 0 Benign 13.62 66093 chr11 74705770 74705770 C T rs371432968 NEU3 Nonsynonymous SNV T104I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.72 66094 chr11 8646308 8646308 C T rs369429089 TRIM66 Synonymous SNV L781L 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 10.38 66095 chr11 64888456 64888456 A G rs9333579 FAU Synonymous SNV P91P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.129 66096 chr11 75141443 75141443 C T rs1051584646 KLHL35 Nonsynonymous SNV G78S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 66097 chr12 118198833 118198833 G C rs141457085 KSR2 Nonsynonymous SNV D323E 0.018 0.021 0.014 11 21 8 0.028 4 0 0 0 0 11.19 66098 chr11 7530985 7530985 G A rs12803046 OLFML1 Nonsynonymous SNV A123T 0.025 0.036 0.027 9 29 14 0.023 8 0 0 0 1 20.2 66099 chr12 133779616 133779616 T C rs367582508 ZNF268 Synonymous SNV D448D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.021 66100 chr11 65357638 65357638 G A rs114234466 EHBP1L1 Synonymous SNV R622R 0.03 0.016 0.034 7 35 6 0.018 10 0 0 0 0 7.827 66101 chr2 113522159 113522159 G A CKAP2L Nonsynonymous SNV P6L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.234 66102 chr12 120578714 120578714 C T rs111838318 GCN1 Synonymous SNV Q1981Q 0.008 0.018 0.007 8 9 7 0.021 2 0 0 0 1 14.92 66103 chr12 26628290 26628290 C G rs751212031 ITPR2 Nonsynonymous SNV G2094A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.68 66104 chr2 137639841 137639841 A G rs58196670 THSD7B Synonymous SNV A31A 0.031 0.036 0.058 9 36 14 0.023 17 1 0 1 0 7.522 66105 chr12 27156261 27156261 C G rs142802356 TM7SF3 Nonsynonymous SNV E52Q 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 17.92 66106 chr2 114017005 114017005 C T rs75788139 PAX8-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 7.468 66107 chr2 152135415 152135415 C T rs11551174 NMI Synonymous SNV S89S 0.046 0.044 0.051 15 54 17 0.038 15 0 1 1 0 20.1 66108 chr2 118860873 118860873 T C rs35551800 INSIG2 Synonymous SNV F7F 0.015 0.013 0.014 19 18 5 0.049 4 0 0 0 1 Benign 2.792 66109 chr11 5878617 5878617 G A rs117008856 OR52E8 Nonsynonymous SNV H106Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.5 66110 chr12 19653062 19653062 A G rs78073127 AEBP2 Synonymous SNV T402T 0.02 0.016 0.027 8 23 6 0.021 8 0 0 0 0 1.918 66111 chr12 2064666 2064666 T C rs12423058 DCP1B Nonsynonymous SNV N195D 0.026 0.013 0.034 11 31 5 0.028 10 0 0 0 0 27 66112 chr11 93837771 93837771 C A rs148114445 HEPHL1 Nonsynonymous SNV D920E 0.022 0.01 0.017 5 26 4 0.013 5 0 0 1 0 23 66113 chr11 59190120 59190120 A G rs17153691 OR5A2 Nonsynonymous SNV F103L 0.019 0.013 0.02 6 22 5 0.015 6 1 0 0 0 18.95 66114 chr2 127951371 127951371 C T rs138682404 CYP27C1 Synonymous SNV P264P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 19.56 66115 chr12 39745624 39745624 T C rs149219011 KIF21A Nonsynonymous SNV K543R 0.013 0.01 0.01 6 15 4 0.015 3 0 0 0 0 Benign 12.87 66116 chr12 21428307 21428307 G A rs11568565 SLCO1A2 Synonymous SNV C554C 0.032 0.029 0.054 10 37 11 0.026 16 1 1 0 1 9.021 66117 chr12 40114781 40114781 A G rs138966349 C12orf40 Nonsynonymous SNV T563A 0.013 0.01 0.014 5 15 4 0.013 4 0 0 0 0 0.011 66118 chr2 160028693 160028693 T G rs113262393 TANC1 Nonsynonymous SNV S270R 0.021 0.01 0.007 3 25 4 0.008 2 0 0 0 0 10.29 66119 chr11 96117873 96117873 A G rs11549808 CCDC82 Synonymous SNV S13S 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 8.081 66120 chr12 42512817 42512817 A G rs201566551 GXYLT1 Synonymous SNV H126H 0.032 0.042 0 11 37 16 0.028 0 0 0 0 0 3.077 66121 chr11 99827674 99827674 G A CNTN5 Synonymous SNV L196L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.27 66122 chr12 124971022 124971022 G A rs186081475 NCOR2 Synonymous SNV P66P 0.007 0.01 0.017 3 8 4 0.008 5 0 0 0 0 10.23 66123 chr11 67177100 67177100 C T rs201488188 TBC1D10C Nonsynonymous SNV R305W 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 28.5 66124 chr12 101017586 101017586 G A rs146343346 GAS2L3 Nonsynonymous SNV V335M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.546 66125 chr11 83673954 83673954 G A rs55987930 DLG2 Synonymous SNV H282H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 10.05 66126 chr2 136473225 136473225 A T R3HDM1 Nonsynonymous SNV I785F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 66127 chr12 101581197 101581197 A G rs141439838 SLC5A8 Synonymous SNV P310P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 6.034 66128 chr11 86158235 86158235 C T rs3182235 ME3 Nonsynonymous SNV A418T 0.04 0.052 0.027 13 47 20 0.033 8 0 0 0 0 24.3 66129 chr11 86209110 86209110 G A rs35059554 ME3 Synonymous SNV Y200Y 0.043 0.052 0.031 13 51 20 0.033 9 0 0 0 0 8.332 66130 chr11 8660223 8660223 G A rs145246518 TRIM66 Nonsynonymous SNV S618F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.3 66131 chr12 4702173 4702173 C T rs2240763 DYRK4 Synonymous SNV L42L 0.047 0.031 0.048 9 55 12 0.023 14 1 0 0 0 10.18 66132 chr12 4716513 4716513 C T rs2255588 DYRK4 Synonymous SNV A39A 0.045 0.031 0.048 10 53 12 0.026 14 1 0 0 0 12.89 66133 chr12 4735734 4735734 T C rs2072359 AKAP3 Synonymous SNV Q778Q 0.043 0.031 0.044 9 51 12 0.023 13 1 0 0 0 0.031 66134 chr12 4735894 4735894 G A rs2072357 AKAP3 Nonsynonymous SNV S725L 0.051 0.039 0.048 11 60 15 0.028 14 1 0 0 0 17.01 66135 chr12 4736086 4736086 A G rs1990313 AKAP3 Nonsynonymous SNV I661T 0.044 0.034 0.044 10 52 13 0.026 13 1 0 0 0 6.607 66136 chr11 609429 609429 T C rs201564523 PHRF1 Synonymous SNV L1325L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.143 66137 chr2 152317669 152317669 G A rs116443402 RIF1 Synonymous SNV S1031S 0.054 0.049 0.044 13 63 19 0.033 13 4 0 0 0 7.877 66138 chr11 610724 610724 C T rs35482931 PHRF1 Nonsynonymous SNV A1547V 0.015 0.016 0.02 9 18 6 0.023 6 1 1 0 1 18.52 66139 chr2 170048473 170048473 G C rs145179638 LRP2 Synonymous SNV P2967P 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.814 66140 chr12 131471699 131471699 G A rs61732860 ADGRD1 Nonsynonymous SNV V184I 0.024 0.026 0.037 12 28 10 0.031 11 1 0 0 1 12.25 66141 chr11 65321232 65321232 G A rs201590889 LTBP3 Synonymous SNV P268P 0.014 0.008 0 2 16 3 0.005 0 0 0 0 0 Benign 4.065 66142 chr11 6943017 6943017 T C rs764478617 OR2D3 Nonsynonymous SNV I262T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 66143 chr12 132547093 132547093 - CAGCAGCAGCAG EP400 Q2748_T2749insQQQQ 0.01 0.01 0.003 2 12 4 0.005 1 1 0 0 0 66144 chr2 153575347 153575347 G T rs776457567 ARL6IP6 Nonsynonymous SNV R70L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 66145 chr2 15542352 15542352 C T rs16862653 NBAS Nonsynonymous SNV R1004Q 0.032 0.039 0.044 21 37 15 0.054 13 0 0 1 2 25 66146 chr11 65486092 65486092 A G rs11227272 KAT5 Synonymous SNV T380T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.189 66147 chr11 93554179 93554179 G A rs143287726 VSTM5 Synonymous SNV I134I 0.008 0.003 0.007 2 9 1 0.005 2 1 0 0 0 14.41 66148 chr2 175216423 175216423 G A rs766969193 CIR1 Nonsynonymous SNV A172V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 66149 chr11 65631352 65631352 G A rs775065066 MUS81 Nonsynonymous SNV G348S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 66150 chr2 175939488 175939488 G A rs147478928 ATF2 Nonsynonymous SNV S398L 0.003 0 0 0 3 0 0 0 0 0 0 0 29.2 66151 chr12 44148773 44148773 A C rs33999797 PUS7L Nonsynonymous SNV I92M 0.041 0.031 0.044 13 48 12 0.033 13 3 0 0 0 0.002 66152 chr12 133697760 133697760 C T rs7953400 ZNF891 Nonsynonymous SNV E249K 0.034 0.039 0.014 11 40 15 0.028 4 0 0 0 0 8.95 66153 chr12 45169926 45169926 C T rs111769386 NELL2 Nonsynonymous SNV R257Q 0.006 0.01 0 0 7 4 0 0 0 0 0 0 23.4 66154 chr12 49168798 49168798 C A rs3730071 ADCY6 Nonsynonymous SNV A674S 0.049 0.049 0.031 7 58 19 0.018 9 2 0 0 0 23.2 66155 chr12 46322436 46322436 C T rs118114840 SCAF11 Nonsynonymous SNV G350S 0.03 0.036 0.007 13 35 14 0.033 2 0 0 0 1 23.2 66156 chr12 46622959 46622959 T C rs61928115 SLC38A1 Synonymous SNV A97A 0.015 0.021 0.024 9 18 8 0.023 7 0 0 0 0 8.566 66157 chr2 178937010 178937010 C G rs77972073 PDE11A Nonsynonymous SNV R52T 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.292 66158 chr11 62886738 62886738 G A rs117269586 SLC22A24 Synonymous SNV F192F 0.028 0.026 0.014 11 33 10 0.028 4 0 0 0 0 13.06 66159 chr12 49718014 49718014 G A TROAP Nonsynonymous SNV G113D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.676 66160 chr11 73745083 73745083 G A rs145765035 C2CD3 Nonsynonymous SNV A2041V 0.019 0.026 0.02 10 22 10 0.026 6 0 0 0 1 4.751 66161 chr12 50041522 50041522 G A rs192758732 FMNL3 Synonymous SNV F863F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.08 66162 chr2 162273480 162273480 G C TBR1 Nonsynonymous SNV A187P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 66163 chr2 162360692 162360692 C A rs189669473 AHCTF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.111 66164 chr2 179428960 179428960 C T rs55850344 TTN Nonsynonymous SNV R18235H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 66165 chr12 15654574 15654574 A G rs117540301 PTPRO Nonsynonymous SNV I228V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 15.28 66166 chr2 166789554 166789554 C T rs74447004 TTC21B Nonsynonymous SNV D242N 0.012 0.005 0.024 9 14 2 0.023 7 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 66167 chr2 179498303 179498303 T C rs16866425 TTN Synonymous SNV K5196K 0.03 0.013 0.02 7 35 5 0.018 6 0 0 0 0 Benign/Likely benign 1.703 66168 chr2 179518003 179518003 A G rs2562847 TTN Nonsynonymous SNV L12918S 0.044 0.034 0.017 14 52 13 0.036 5 0 0 0 0 Benign 0.05 66169 chr11 74705632 74705632 G A rs377168820 NEU3 Nonsynonymous SNV R58Q 0.003 0 0 0 4 0 0 0 0 0 0 0 34 66170 chr11 63991571 63991571 C T rs779904553 TRPT1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.3 66171 chr2 179559353 179559353 C T rs72650019 TTN Nonsynonymous SNV V9223I 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 22 66172 chr12 52639588 52639588 C T rs116864361 KRT7-AS 0.011 0.005 0 2 13 2 0.005 0 0 0 0 0 1.632 66173 chr11 640146 640146 C T rs565037800 DRD4 Synonymous SNV P299P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 66174 chr11 64054125 64054125 C A rs138065776 GPR137 Synonymous SNV A43A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 17.92 66175 chr2 179587546 179587546 A G rs16866473 TTN Synonymous SNV D6116D 0.032 0.023 0.017 10 38 9 0.026 5 0 0 0 0 Benign/Likely benign 0.768 66176 chr2 179589241 179589241 G A rs17355446 TTN Nonsynonymous SNV A5710V 0.032 0.023 0.017 10 37 9 0.026 5 0 0 0 0 Benign/Likely benign 22.7 66177 chr2 169853214 169853214 G A rs183214630 ABCB11 Synonymous SNV S136S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.756 66178 chr2 179593352 179593352 C T rs11888217 TTN Nonsynonymous SNV S5190N 0.031 0.023 0.017 9 36 9 0.023 5 0 0 0 0 Benign/Likely benign 13.39 66179 chr2 179593862 179593862 G A rs72648950 TTN Synonymous SNV T5057T 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 Benign 8.653 66180 chr11 67135006 67135006 A T rs867193 CLCF1 Synonymous SNV P26P 0.034 0.047 0.027 11 40 18 0.028 8 1 1 0 0 0.117 66181 chr12 104379508 104379508 - GGAGTTAAGAGG TDG 0.012 0.01 0 5 14 4 0.013 0 0 0 0 0 66182 chr11 64111471 64111471 C A CCDC88B Nonsynonymous SNV H486Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.9 66183 chr12 105322262 105322262 C A rs61745056 SLC41A2 Nonsynonymous SNV G15V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.2 66184 chr2 179615278 179615278 A G rs72647897 TTN Nonsynonymous SNV I3950T 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.16 66185 chr11 67187308 67187308 - G CARNS1 Frameshift insertion V249Gfs*194 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 66186 chr12 105629785 105629785 G A rs139867855 APPL2 Synonymous SNV P2P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 66187 chr11 76890169 76890169 C T MYO7A Synonymous SNV Y787Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 66188 chr12 106715298 106715298 G A rs138066544 TCP11L2 Nonsynonymous SNV R150Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 26.8 66189 chr12 49743142 49743142 G A rs146774114 DNAJC22 Nonsynonymous SNV A163T 0.032 0.023 0.02 5 38 9 0.013 6 0 0 0 0 22.7 66190 chr12 22005422 22005422 G A rs144537241 ABCC9 Synonymous SNV A841A 0.006 0.013 0.01 3 7 5 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 66191 chr12 22218149 22218149 C T rs146887115 CMAS Synonymous SNV Y403Y 0.029 0.031 0.01 7 34 12 0.018 3 0 0 0 0 Benign 10.28 66192 chr11 6789492 6789492 C T rs143018775 OR2AG2 Nonsynonymous SNV G233R 0.009 0.008 0 2 10 3 0.005 0 1 0 0 0 24.6 66193 chr2 172928514 172928514 G A rs146517576 METAP1D Nonsynonymous SNV D92N 0.001 0 0.01 0 1 0 0 3 0 0 0 0 25.5 66194 chr11 77907880 77907880 G A rs368901401 USP35 Nonsynonymous SNV G197R 0.002 0.008 0 3 2 3 0.008 0 0 0 0 1 24.5 66195 chr11 77930447 77930447 G A rs61749244 GAB2 Synonymous SNV S596S 0.009 0.008 0.017 2 11 3 0.005 5 0 0 0 0 15.74 66196 chr2 173435460 173435460 A G rs762557515 PDK1 Nonsynonymous SNV M285V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 66197 chr2 173883523 173883523 C T rs61741759 RAPGEF4 Synonymous SNV S496S 0.023 0.031 0.041 8 27 12 0.021 12 0 0 1 0 15.42 66198 chr11 78433793 78433793 G A rs377402929 TENM4 Synonymous SNV D1240D 0.002 0.008 0.003 3 2 3 0.008 1 0 0 0 1 7.146 66199 chr12 26275332 26275332 C G rs140063083 BHLHE41 Synonymous SNV L372L 0.021 0.021 0.01 15 25 8 0.038 3 1 0 0 1 5.153 66200 chr2 175201281 175201281 G A rs775134806 SP9 Synonymous SNV E156E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 66201 chr11 68562279 68562279 A T rs774281699 CPT1A Nonsynonymous SNV I291N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 28.4 66202 chr11 7949538 7949538 G A rs146594517 OR10A6 Synonymous SNV A224A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 3.377 66203 chr12 26868289 26868289 C T rs2230383 ITPR2 Synonymous SNV T266T 0.008 0.01 0.027 4 9 4 0.01 8 0 0 0 0 15.1 66204 chr12 109526189 109526189 C T rs33962311 ALKBH2 Nonsynonymous SNV V137M 0.006 0.016 0.014 2 7 6 0.005 4 0 0 0 0 27.1 66205 chr2 186666707 186666707 C T rs1034659644 FSIP2 Nonsynonymous SNV S4225F 0.003 0 0 0 4 0 0 0 0 0 0 0 16.21 66206 chr2 178977311 178977311 T C rs775074685 RBM45 Nonsynonymous SNV F13S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.5 66207 chr12 120067593 120067593 G A rs757010705 TMEM233 Nonsynonymous SNV R80Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26 66208 chr2 186671256 186671256 T C rs17826498 FSIP2 Synonymous SNV N5741N 0.027 0.026 0.031 12 32 10 0.031 9 1 0 1 0 1.068 66209 chr12 29617570 29617570 A - rs768220826 OVCH1 I700Mfs*3 0.001 0.008 0 0 1 3 0 0 0 0 0 0 66210 chr2 179534966 179534966 G T rs752662529 TTN Nonsynonymous SNV P10488T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 66211 chr12 52215056 52215056 T C FIGNL2 Nonsynonymous SNV K381R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.9 66212 chr11 6976985 6976985 T G rs200791067 ZNF215 Nonsynonymous SNV S21R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.869 66213 chr12 31106941 31106941 A C rs80046313 TSPAN11 Nonsynonymous SNV T6P 0.009 0.008 0.017 3 11 3 0.008 5 0 0 0 0 7.156 66214 chr12 52448188 52448188 C G rs1882118 NR4A1 Nonsynonymous SNV L26V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 19.11 66215 chr12 121175678 121175678 C T rs1800556 ACADS Nonsynonymous SNV R171W 0.03 0.036 0.027 12 35 14 0.031 8 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 66216 chr11 703002 703011 CGGCTGGCAC - TMEM80 A169Pfs*13 0.003 0 0 0 3 0 0 0 0 0 0 0 66217 chr12 32369288 32369288 G A rs144919300 BICD1 Synonymous SNV G107G 0.028 0.031 0.017 9 33 12 0.023 5 1 0 0 0 Benign 10.4 66218 chr11 6578641 6578641 C A rs192678564 DNHD1 Nonsynonymous SNV P2706T 0.006 0 0.003 4 7 0 0.01 1 0 0 0 0 Likely benign 25.4 66219 chr2 196753009 196753009 C T rs201987961 DNAH7 Synonymous SNV S1793S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.44 66220 chr12 3806145 3806147 CCT - rs200051200 CRACR2A R7del 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 66221 chr2 197184364 197184364 T C rs138998510 HECW2 Nonsynonymous SNV N61S 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Likely benign 10.47 66222 chr2 186610166 186610166 C G rs142958348 FSIP2 Nonsynonymous SNV A163G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.155 66223 chr2 198498617 198498617 T C RFTN2 Synonymous SNV E181E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.458 66224 chr12 41410495 41410495 A G CNTN1 Synonymous SNV R721R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 4.66 66225 chr2 200820581 200820581 G A rs747448154 MAIP1 Synonymous SNV G20G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 66226 chr2 201337667 201337667 A C rs6723687 SPATS2L Synonymous SNV S322S 0.036 0.031 0.041 7 42 12 0.018 12 2 0 0 0 0.598 66227 chr12 53002170 53002170 C G rs377281547 KRT73 Nonsynonymous SNV G478A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.013 66228 chr12 123705962 123705962 C T rs36121382 MPHOSPH9 Nonsynonymous SNV G277S 0.035 0.031 0.027 17 41 12 0.044 8 1 0 0 1 13.78 66229 chr12 54576088 54576088 A C rs772157864 SMUG1, SMUG1 Nonsynonymous SNV V100G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.6 66230 chr12 54576392 54576392 C T SMUG1 Nonsynonymous SNV V101I 0 0.003 0 0 0 1 0 0 0 0 0 0 24 66231 chr12 113379390 113379390 C T rs12819767 OAS3 Nonsynonymous SNV R65W 0.01 0.021 0.014 11 12 8 0.028 4 0 0 0 0 32 66232 chr12 43822171 43822171 G A rs7310011 ADAMTS20 Nonsynonymous SNV S1273F 0.039 0.042 0.02 14 46 16 0.036 6 0 0 0 0 15.1 66233 chr12 43826204 43826204 C T rs7297737 ADAMTS20 Nonsynonymous SNV R1000H 0.039 0.042 0.02 14 46 16 0.036 6 0 0 0 0 14.01 66234 chr12 123805261 123805261 G A rs61760909 SBNO1 Nonsynonymous SNV P826S 0.016 0.01 0 2 19 4 0.005 0 1 0 0 0 Benign 10.03 66235 chr12 43828141 43828141 T A rs7302446 ADAMTS20 Nonsynonymous SNV K876M 0.039 0.042 0.02 14 46 16 0.036 6 0 0 0 0 23.7 66236 chr11 74907582 74907582 C T rs2306168 SLCO2B1 Nonsynonymous SNV S342F 0.028 0.026 0.031 12 33 10 0.031 9 1 0 0 1 6.5 66237 chr2 186673618 186673618 C A rs148575803 FSIP2 Nonsynonymous SNV P6529T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.6 66238 chr12 55615319 55615319 C T rs367838102 OR10A7 Nonsynonymous SNV P171S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.008 66239 chr12 124298077 124298077 C T rs117037408 DNAH10 Nonsynonymous SNV H1053Y 0.02 0.026 0 4 24 10 0.01 0 0 0 0 0 Benign 21.3 66240 chr12 113906140 113906140 G A rs139906449 LHX5 Nonsynonymous SNV T156M 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 25.4 66241 chr12 11420893 11420893 C T rs201540020 PRB3 Nonsynonymous SNV G97E 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 2.866 66242 chr2 202490812 202490812 C A rs73989521 TMEM237 Nonsynonymous SNV A366S 0.057 0.044 0.051 18 67 17 0.046 15 2 0 0 1 Benign 20.3 66243 chr12 56660905 56660905 G T rs60542959 COQ10A Star tloss M1? 0.011 0.016 0.007 12 13 6 0.031 2 0 0 0 0 22.6 66244 chr11 9537849 9537851 CTC - rs774706677 ZNF143 S513del 0.001 0 0 0 1 0 0 0 0 0 0 0 66245 chr12 48359980 48359980 G A rs115720444 TMEM106C Nonsynonymous SNV V174I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.78 66246 chr2 190611188 190611188 G T rs79706622 ANKAR Nonsynonymous SNV M1380I 0.023 0.026 0.031 11 27 10 0.028 9 1 0 0 0 10.55 66247 chr11 95712362 95712362 G A rs372556150 MAML2 Nonsynonymous SNV T1074M 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 66248 chr2 190925077 190925077 T C rs1805086 MSTN Nonsynonymous SNV K153R 0.034 0.016 0.044 12 40 6 0.031 13 2 0 1 0 Benign 9.742 66249 chr12 11992168 11992168 G A rs11611479 ETV6 Synonymous SNV T86T 0.112 0.078 0.122 39 132 30 0.1 36 10 0 1 2 12.45 66250 chr11 76925663 76925663 G A rs376900309 MYO7A Nonsynonymous SNV M2190I 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Uncertain significance 26.4 66251 chr2 191114381 191114381 T G rs61752508 HIBCH Nonsynonymous SNV E245D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.55 66252 chr2 191301323 191301323 A T rs138079222 MFSD6 Nonsynonymous SNV T190S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 66253 chr12 129558537 129558537 G A rs74344050 TMEM132D Synonymous SNV T1061T 0.013 0.01 0.02 2 15 4 0.005 6 0 0 0 0 Benign 2.468 66254 chr12 100657469 100657469 C A rs61744210 DEPDC4 Synonymous SNV G120G 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 14.36 66255 chr12 57111922 57112059 GCAGCTGGGGTTGTGGGTGCCCCTTTGTGGGGTGGGGTAGCTAGACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGCATGGGGGCCCCTTTGGGGGATGGGGTAGCTGGGCCTCCTTTTGGGGAGGGAGGAGTC - NACA P1094_G1139del 0 0.003 0 0 0 1 0 0 0 0 0 0 66256 chr2 197948105 197948105 T C rs146056112 ANKRD44 Nonsynonymous SNV D482G 0.003 0 0.01 2 3 0 0.005 3 0 0 1 0 27.3 66257 chr2 207639058 207639058 A G FASTKD2 Nonsynonymous SNV N455S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 66258 chr12 10150961 10150961 G A rs2273987 CLEC1B Nonsynonymous SNV S28F 0.074 0.052 0.082 28 87 20 0.072 24 3 0 0 0 24.6 66259 chr12 121442064 121442064 G A rs3751152 C12orf43 Synonymous SNV N195N 0.014 0.005 0.017 7 16 2 0.018 5 0 0 0 0 6.15 66260 chr12 131616332 131616332 C T ADGRD1 Synonymous SNV Y746Y 0.003 0 0 0 3 0 0 0 0 0 0 0 10.6 66261 chr12 49360194 49360194 A G rs146010731 WNT10B Nonsynonymous SNV I285T 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.6 66262 chr2 198593201 198593201 C T rs151126588 BOLL Nonsynonymous SNV R337Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.46 66263 chr12 49412630 49412630 C T rs201121069 DDN-AS1 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 2.179 66264 chr12 132335555 132335555 G A rs781326116 MMP17 Synonymous SNV T516T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.28 66265 chr12 121655063 121655063 G A rs2303998 P2RX4 Synonymous SNV A87A 0.028 0.016 0.024 11 33 6 0.028 7 1 0 0 0 12.97 66266 chr12 57894222 57894222 G A rs370559405 MARS1 Nonsynonymous SNV V404M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.5 66267 chr12 49994291 49994291 T C rs145067466 FAM186B Nonsynonymous SNV M378V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 66268 chr11 723311 723311 C T rs60889456 EPS8L2 Nonsynonymous SNV P471L 0.017 0.005 0.024 6 20 2 0.015 7 0 0 0 0 Benign 11.19 66269 chr12 13243647 13243647 A G rs2306765 GSG1 Nonsynonymous SNV F52L 0.017 0.008 0.017 6 20 3 0.015 5 0 0 0 0 22.8 66270 chr12 102158764 102158764 G A rs76889468 GNPTAB Nonsynonymous SNV T644I 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign 21.2 66271 chr12 6092386 6092386 C G VWF Synonymous SNV V2337V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.553 66272 chr11 74460148 74460148 C T rs148370424 RNF169 Nonsynonymous SNV P75S 0.005 0.01 0.003 5 6 4 0.013 1 0 0 0 0 23.5 66273 chr12 56350747 56350747 G A rs113995172 PMEL Nonsynonymous SNV T361M 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 Benign 23.7 66274 chr12 6604331 6604331 G T rs61753197 NCAPD2 Nonsynonymous SNV V23L 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 18.19 66275 chr2 210694093 210694093 G A rs200238702 UNC80 Synonymous SNV P872P 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 10.73 66276 chr12 56625190 56625190 T C rs201783933 SLC39A5 Synonymous SNV F44F 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 4.937 66277 chr12 66698837 66698837 G A rs35605829 HELB Nonsynonymous SNV E172K 0.003 0.003 0.007 0 4 1 0 2 0 0 1 0 9.5 66278 chr11 76372064 76372064 G A rs34672185 LRRC32 Synonymous SNV G81G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.021 66279 chr12 106641297 106641297 G A rs61942134 CKAP4 Synonymous SNV L111L 0.021 0.023 0.02 10 25 9 0.026 6 0 0 1 0 6.943 66280 chr12 124408910 124408910 A G DNAH10 Synonymous SNV S3781S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.731 66281 chr2 20701052 20701052 T C rs138351601 LOC107985856 0 0 0.014 0 0 0 0 4 0 0 0 0 2.122 66282 chr12 65122784 65122784 G A rs753238075 GNS Synonymous SNV Y384Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.207 66283 chr12 106824188 106824188 T A rs74390456 POLR3B Synonymous SNV G409G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.48 66284 chr12 57592067 57592067 G A rs143423493 LRP1 Synonymous SNV T3137T 0.022 0.026 0.014 14 26 10 0.036 4 0 0 0 0 Benign 15.47 66285 chr12 57600281 57600281 C T rs1800160 LRP1 Synonymous SNV I3872I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 15.3 66286 chr2 208134114 208134114 A T rs116237969 MIR1302-4 0 0 0.027 0 0 0 0 8 0 0 0 0 6.765 66287 chr11 76813961 76813961 C T rs2233546 OMP Nonsynonymous SNV R26W 0.011 0.018 0.037 6 13 7 0.015 11 0 0 0 0 24.4 66288 chr12 125396377 125396377 A G rs16918544 UBC Synonymous SNV D647D 0.009 0.008 0.01 3 10 3 0.008 3 0 1 0 0 0.033 66289 chr12 15636940 15636940 T C rs17762440 PTPRO Synonymous SNV D36D 0.017 0.01 0.014 10 20 4 0.026 4 1 0 1 0 2.145 66290 chr12 15776217 15776217 C T rs77967764 EPS8 Nonsynonymous SNV V744I 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Likely benign 25.9 66291 chr12 57873042 57873042 T C rs33927108 ARHGAP9 Nonsynonymous SNV R50G 0.045 0.06 0.041 8 53 23 0.021 12 2 2 0 0 25.9 66292 chr12 125509852 125509852 - CCCCAGCAA rs537272428 BRI3BP S219_V220insNPS 0.008 0.005 0 0 9 2 0 0 0 0 0 0 66293 chr12 52452677 52452677 G A rs758466464 NR4A1 Synonymous SNV V582V 0.001 0.01 0 0 1 4 0 0 0 0 0 0 14.58 66294 chr12 10958933 10958933 T C rs141368930 TAS2R8 Nonsynonymous SNV K216R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 66295 chr12 52714995 52714995 C T rs769503856 KRT83 Nonsynonymous SNV C42Y 0.003 0.01 0 0 3 4 0 0 0 0 0 0 23.9 66296 chr12 69222634 69222634 C T rs1795480 MDM2 Synonymous SNV L148L 0.017 0.013 0.031 1 20 5 0.003 9 0 0 0 0 Benign 15.55 66297 chr11 775108 775108 C T rs56345968 GATD1 Synonymous SNV T33T 0.017 0.005 0.024 6 20 2 0.015 7 0 0 0 0 8.996 66298 chr12 129559110 129559110 G A rs751535148 TMEM132D Synonymous SNV S870S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.137 66299 chr12 21201686 21201686 A T SLCO1B7 Synonymous SNV S345S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 66300 chr12 6935872 6935872 C T rs376023985 GPR162 Nonsynonymous SNV R140W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 66301 chr12 71834037 71834037 G A rs117324318 LGR5 Synonymous SNV E59E 0.026 0.026 0.024 8 30 10 0.021 7 0 0 0 0 16.52 66302 chr2 219557017 219557017 G A rs559686721 STK36 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 66303 chr2 219867719 219867719 C T rs73089092 CFAP65 Synonymous SNV L1906L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.85 66304 chr2 219868814 219868814 C T rs73089095 CFAP65 Synonymous SNV K1805K 0.003 0 0 0 3 0 0 0 0 0 0 0 8.803 66305 chr2 219877999 219877999 G A rs151066400 CFAP65 Synonymous SNV D1313D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 66306 chr12 248071 248071 G C rs77474006 IQSEC3 Nonsynonymous SNV Q211H 0.049 0.042 0.044 12 57 16 0.031 13 2 0 0 0 16.62 66307 chr2 219883850 219883850 G A rs80127281 CFAP65 Synonymous SNV F1175F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.98 66308 chr2 219888915 219888915 T A rs9653262 CFAP65 Nonsynonymous SNV K806M 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 15.32 66309 chr12 11061118 11061118 T C rs747923980 TAS2R13 Synonymous SNV T260T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 66310 chr12 7045891 7045891 - CAGCAG rs797045323 ATN1 Q502_H503insQQ 0.02 0.021 0.02 5 23 8 0.013 6 0 0 1 0 66311 chr11 94211916 94211916 C T rs142996063 MRE11 Nonsynonymous SNV A177T 0.011 0.008 0.003 1 13 3 0.003 1 0 0 0 0 Uncertain significance 32 66312 chr2 219892263 219892263 G A rs73090877 CFAP65 Nonsynonymous SNV R709C 0.003 0 0 0 3 0 0 0 0 0 0 0 0.93 66313 chr2 219892626 219892626 C T rs73090878 CFAP65 Nonsynonymous SNV V588I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.002 66314 chr12 52938320 52938320 C T rs2292506 KRT71 Nonsynonymous SNV R523Q 0.028 0.036 0.037 14 33 14 0.036 11 1 0 0 0 32 66315 chr12 25702478 25702478 C T rs146650787 LMNTD1 Nonsynonymous SNV R10K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.153 66316 chr2 215848528 215848528 T C rs149610963 ABCA12 Nonsynonymous SNV I1091V 0.002 0.005 0.014 4 2 2 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 18.45 66317 chr2 220044961 220044961 A G rs73074987 RETREG2 Synonymous SNV P183P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.881 66318 chr2 216211604 216211604 A G rs112288749 ATIC Synonymous SNV G481G 0.009 0.023 0.02 9 11 9 0.023 6 0 0 0 0 10.42 66319 chr11 9769483 9769483 C T rs34696762 SWAP70 Synonymous SNV T420T 0.018 0.005 0.014 4 21 2 0.01 4 1 0 0 0 10.47 66320 chr2 216960828 216960828 C T rs146119140 TMEM169 Nonsynonymous SNV R48C 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 26.6 66321 chr2 217288388 217288388 G C rs2066518 SMARCAL1 Nonsynonymous SNV E377Q 0.009 0.008 0.044 7 11 3 0.018 13 0 0 0 0 Benign/Likely benign 24.9 66322 chr12 80735737 80735737 A G rs61735664 OTOGL Nonsynonymous SNV N1678S 0.083 0.068 0.088 27 98 26 0.069 26 5 1 1 0 Benign 25.7 66323 chr12 53086341 53086341 G T rs150981240 KRT77 Nonsynonymous SNV L431M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 3.573 66324 chr2 220283354 220283354 C T rs372825868 DES Nonsynonymous SNV S57L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 66325 chr12 662412 662412 G C rs35419938 B4GALNT3 Nonsynonymous SNV E441D 0.026 0.021 0.024 9 30 8 0.023 7 0 1 0 0 Benign 13.21 66326 chr2 220283556 220283556 G A rs34365369 DES Synonymous SNV E124E 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign/Likely benign 11.35 66327 chr12 662695 662695 C T rs151321644 B4GALNT3 Nonsynonymous SNV H536Y 0.026 0.021 0.024 9 30 8 0.023 7 0 1 0 0 Benign 7.335 66328 chr2 220313721 220313721 C A rs546598705 SPEG Nonsynonymous SNV P614H 0.003 0 0 0 3 0 0 0 0 0 0 0 12.74 66329 chr12 66275555 66275555 G A rs199566787 HMGA2-AS1 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 13.04 66330 chr12 113376505 113376505 C T rs776183927 OAS3 Nonsynonymous SNV T57I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.002 66331 chr12 78415552 78415552 G A rs372709335 NAV3 Nonsynonymous SNV A645T 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 14.16 66332 chr12 53202599 53202599 C T rs189596654 KRT4 Synonymous SNV T290T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 12.67 66333 chr12 7848202 7848202 G C rs17727707 GDF3 Synonymous SNV P41P 0.05 0.039 0.027 11 59 15 0.028 8 7 0 0 1 0.797 66334 chr12 11339474 11339474 T C rs746753114 TAS2R42 Nonsynonymous SNV N24D 0.003 0 0 3 4 0 0.008 0 0 0 0 0 22 66335 chr12 101769456 101769456 A G UTP20 Nonsynonymous SNV T2440A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 19.6 66336 chr2 220027067 220027067 G T rs375981700 SLC23A3 Synonymous SNV I380I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 66337 chr12 7045912 7045912 - CAG ATN1 Q502_H503insQ 0.024 0.031 0 6 28 12 0.015 0 0 0 0 0 66338 chr12 82750821 82750821 A G rs754891317 CCDC59 Nonsynonymous SNV C128R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 66339 chr12 53427597 53427597 C G rs115214256 EIF4B Synonymous SNV P290P 0.013 0.01 0.007 13 15 4 0.033 2 0 0 0 0 12.36 66340 chr12 14959470 14959470 A G rs11609202 SMCO3 Nonsynonymous SNV C49R 0.05 0.047 0.041 16 59 18 0.041 12 1 1 1 0 25.1 66341 chr2 224463164 224463164 G A rs16864975 SCG2 Synonymous SNV N279N 0.074 0.052 0.082 28 87 20 0.072 24 2 1 2 0 0.019 66342 chr12 86198827 86198827 C T rs201806935 RASSF9 Nonsynonymous SNV D321N 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 26.4 66343 chr2 220400014 220400014 G A rs12477394 ASIC4 Synonymous SNV A507A 0.004 0.005 0.017 2 5 2 0.005 5 0 0 0 0 14.53 66344 chr12 119909960 119909960 C - rs559574757 CCDC60 L112Yfs*2 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 66345 chr12 15800147 15800147 A G rs75560906 EPS8 Synonymous SNV S494S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 1.573 66346 chr12 7252597 7252597 G A rs61917913 C1RL Synonymous SNV S172S 0.049 0.034 0.027 14 57 13 0.036 8 1 0 0 0 4.757 66347 chr12 106464616 106464616 G A rs55667101 NUAK1 Synonymous SNV F256F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 16.16 66348 chr12 16377514 16377514 T C rs61915927 SLC15A5 Synonymous SNV A395A 0.034 0.018 0.034 10 40 7 0.026 10 0 0 0 0 2.33 66349 chr2 227660776 227660776 C G rs35909627 IRS1 Synonymous SNV P893P 0.043 0.031 0.034 6 50 12 0.015 10 1 0 0 0 9.207 66350 chr12 41582855 41582855 A G rs1046418818 PDZRN4 Nonsynonymous SNV M200V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 66351 chr12 120750398 120750398 C T rs138164230 SIRT4 Nonsynonymous SNV R213W 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 33 66352 chr12 9027032 9027032 C T rs371033800 A2ML1 Synonymous SNV N920N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 5.842 66353 chr12 120972762 120972762 C T rs759735188 RNF10 Nonsynonymous SNV P50S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.68 66354 chr12 21054393 21054393 A T rs143827641 SLCO1B3, SLCO1B3-SLCO1B7 Synonymous SNV V591V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 0.191 66355 chr12 431586 431586 T A rs74894801 KDM5A Nonsynonymous SNV H808L 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 18.26 66356 chr12 108169187 108169187 G A ASCL4 Synonymous SNV P65P 0.007 0 0 2 8 0 0.005 0 0 0 0 0 10.47 66357 chr2 222365859 222365859 G A rs200225096 EPHA4 Nonsynonymous SNV T235M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25 66358 chr12 77421778 77421778 A C rs35158210 E2F7 Synonymous SNV V675V 0.008 0.01 0.024 1 9 4 0.003 7 0 0 1 0 1.656 66359 chr11 94731376 94731376 T C rs17617964 KDM4D Synonymous SNV H280H 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 0.115 66360 chr2 228881457 228881457 C T rs139455126 SPHKAP Synonymous SNV P1371P 0.003 0.003 0.02 1 4 1 0.003 6 0 0 0 0 11.51 66361 chr12 96077429 96077429 G A rs2302896 NTN4 Synonymous SNV C413C 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 10.3 66362 chr12 45686703 45686703 T A rs12822001 ANO6 Star tloss M1? 0.004 0 0 0 5 0 0 0 0 0 0 0 16.23 66363 chr12 21926288 21926288 G C rs117808169 KCNJ8 Nonsynonymous SNV A88G 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Uncertain significance 22.4 66364 chr11 95546226 95546226 G C rs117321017 CEP57 Nonsynonymous SNV Q111H 0.01 0.008 0.01 5 12 3 0.013 3 0 0 0 0 Benign 25.1 66365 chr12 7980178 7980178 C T rs1043712 SLC2A14 Synonymous SNV L173L 0.012 0.018 0.003 6 14 7 0.015 1 2 0 0 0 10.18 66366 chr12 47472211 47472211 G A rs769234837 AMIGO2 Nonsynonymous SNV A192V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 66367 chr12 96354264 96354264 G A rs184499535 AMDHD1 Nonsynonymous SNV V226M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 66368 chr12 100649967 100649967 T C rs112288452 DEPDC4 Synonymous SNV Q246Q 0.014 0.018 0.014 9 17 7 0.023 4 0 0 0 0 0.014 66369 chr12 122958545 122958545 G A rs374323937 ZCCHC8 Synonymous SNV S464S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.4 66370 chr2 228883392 228883392 A G rs150102188 SPHKAP Synonymous SNV H726H 0.01 0.01 0.034 6 12 4 0.015 10 0 0 0 0 0.001 66371 chr12 12334156 12334156 G A LRP6 Synonymous SNV V398V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.587 66372 chr2 231050760 231050760 A G rs745495326 SP110 Nonsynonymous SNV M410T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 66373 chr12 88454728 88454728 A G rs117852025 CEP290 Nonsynonymous SNV I2134T 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 66374 chr12 88476817 88476817 A G rs796073911 CEP290 Nonsynonymous SNV I1668T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.279 66375 chr12 112082243 112082243 C T BRAP Synonymous SNV R513R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.969 66376 chr12 57578673 57578673 G A rs34577247 LRP1 Nonsynonymous SNV D2080N 0.023 0.013 0.02 9 27 5 0.023 6 0 0 0 0 22.7 66377 chr12 112601928 112601928 C T rs202119425 HECTD4 Nonsynonymous SNV R4239Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 66378 chr12 103352172 103352180 GCAGCAGCA - rs763302626 ASCL1 Q60_Q62del 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 66379 chr2 232099950 232099950 G C rs201590882 ARMC9 Nonsynonymous SNV Q212H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23 66380 chr12 104379508 104379508 - GGAGTTAAG TDG 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 66381 chr2 232320581 232320581 T G rs13019380 SNORA75 0 0 0.102 0 0 0 0 30 0 0 3 0 16.57 66382 chr12 49432581 49432581 G A rs754988293 KMT2D Nonsynonymous SNV P2853L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.2 66383 chr2 233712109 233712109 A G rs72554081 GIGYF2 Nonsynonymous SNV H1165R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 66384 chr12 125453437 125453437 G A rs112583947 DHX37 Synonymous SNV F423F 0.012 0.01 0.014 7 14 4 0.018 4 0 0 0 0 8.107 66385 chr13 109793009 109793009 C T rs141423536 MYO16 Synonymous SNV H1483H 0.043 0.039 0.044 17 51 15 0.044 13 0 1 0 0 3.571 66386 chr12 118499940 118499940 G A rs541287831 WSB2 Nonsynonymous SNV L10F 0.003 0 0 0 3 0 0 0 0 0 0 0 6.194 66387 chr2 234763137 234763137 T C rs2302154 HJURP Nonsynonymous SNV T4A 0.06 0.094 0.092 22 71 36 0.056 27 2 4 1 1 0.04 66388 chr12 96927729 96927729 T C rs888093338 CFAP54 Nonsynonymous SNV V506A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 66389 chr12 120615341 120615341 C T rs200502780 GCN1 Synonymous SNV L249L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.74 66390 chr2 237103631 237103631 G A rs77949726 ASB18 Nonsynonymous SNV R429C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 35 66391 chr12 45796892 45796892 C G rs200199011 ANO6 Synonymous SNV L550L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.998 66392 chr12 4657293 4657293 A G rs61731949 RAD51AP1 Nonsynonymous SNV M119V 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 0.015 66393 chr2 238820380 238820380 G A rs61752232 RAMP1 Synonymous SNV T134T 0.007 0 0.02 7 8 0 0.018 6 0 0 0 0 Benign 8.149 66394 chr12 6777134 6777134 C A rs138190709 ZNF384 Nonsynonymous SNV A378S 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 14.04 66395 chr13 101747984 101747984 G A rs9513851 NALCN Synonymous SNV N1041N 0.06 0.049 0.051 15 71 19 0.038 15 1 0 1 0 Benign 9.069 66396 chr12 6833967 6833967 A T rs148833801 COPS7A Nonsynonymous SNV M49L 0.02 0.016 0.007 7 24 6 0.018 2 1 0 0 0 12.14 66397 chr12 121670276 121670276 A G rs28360472 P2RX4 Nonsynonymous SNV Y288C 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 26.4 66398 chr13 103383339 103383339 T C rs754544158 CCDC168 Nonsynonymous SNV R6570G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.427 66399 chr2 239134056 239134056 A G rs7572285 LINC02610 0 0 0.34 0 0 0 0 100 0 0 16 0 0.024 66400 chr2 239140403 239140403 T C rs35825433 LOC643387 0 0 0.228 0 0 0 0 67 0 0 15 0 1.384 66401 chr2 239140426 239140426 - C rs372820890 LOC643387 0 0 0.255 0 0 0 0 75 0 0 15 0 66402 chr2 239140434 239140434 C A rs111384196 LOC643387 0 0 0.269 0 0 0 0 79 0 0 15 0 2.506 66403 chr2 23916258 23916258 G A rs369774606 KLHL29 Nonsynonymous SNV A468T 0 0 0.007 0 0 0 0 2 0 0 0 0 18.35 66404 chr12 122107255 122107255 G A rs35343615 MORN3 Synonymous SNV N45N 0.042 0.034 0.031 18 49 13 0.046 9 0 0 0 0 12.42 66405 chr12 122217559 122217559 C T rs34719836 RHOF Nonsynonymous SNV A161T 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 23.3 66406 chr12 111749947 111749947 C T rs199957017 CUX2 Synonymous SNV D586D 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 11.64 66407 chr2 241420373 241420373 G A rs147804085 ANKMY1 Synonymous SNV C699C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 8.471 66408 chr12 122265517 122265517 C T rs61743641 SETD1B Synonymous SNV G1810G 0.015 0.003 0.01 0 18 1 0 3 0 0 0 0 15.55 66409 chr2 241389219 241389219 G A rs13421123 LOC100130449 0 0 0.269 0 0 0 0 79 0 0 10 0 4.089 66410 chr12 111990175 111990175 T C rs754564637 ATXN2 Synonymous SNV K31K 0 0 0 3 0 0 0.008 0 0 0 0 0 1.784 66411 chr12 122277891 122277891 C A rs36023382 HPD Nonsynonymous SNV V340L 0.014 0 0.014 3 16 0 0.008 4 0 0 0 0 Benign/Likely benign 18.82 66412 chr12 11323979 11323979 C A rs148825190 SMIM10L1 Synonymous SNV S8S 0.02 0.023 0.024 7 24 9 0.018 7 0 0 0 0 11.92 66413 chr12 7045531 7045531 A G rs138480639 ATN1 Synonymous SNV P367P 0.009 0.018 0 3 10 7 0.008 0 0 0 0 0 0.01 66414 chr13 19753682 19753682 C A rs139375472 TUBA3C Nonsynonymous SNV V9L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.5 66415 chr2 241685586 241685586 G A rs73102625 KIF1A Synonymous SNV S923S 0.064 0.055 0.065 21 75 21 0.054 19 2 1 0 1 Benign/Likely benign 12.94 66416 chr12 122669310 122669310 G C rs199554806 LRRC43 Nonsynonymous SNV R132P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 66417 chr12 7177488 7177488 C T rs121909582 C1S Nonsynonymous SNV R367W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 34 66418 chr12 15661564 15661564 G A rs71459181 PTPRO Nonsynonymous SNV V443I 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 18.59 66419 chr12 15669742 15669742 C T rs137966245 PTPRO Nonsynonymous SNV T544M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 66420 chr2 241898520 241898520 T C rs11886565 LOC200772 0 0 0.282 0 0 0 0 83 0 0 34 0 3.446 66421 chr13 110817282 110817282 G T COL4A1 Synonymous SNV P1359P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.216 66422 chr12 19427764 19427764 T C rs76626801 PLEKHA5 Nonsynonymous SNV V273A 0.014 0.003 0.014 1 16 1 0.003 4 0 0 0 0 9.005 66423 chr12 123463499 123463499 A G rs372372657 OGFOD2 Nonsynonymous SNV N80S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 66424 chr12 19427766 19427766 A G rs77598867 PLEKHA5 Nonsynonymous SNV S274G 0.014 0.003 0.014 1 16 1 0.003 4 0 0 0 0 13.12 66425 chr12 49426539 49426539 A C rs199578328 KMT2D Synonymous SNV T3983T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 66426 chr12 49484933 49484933 G A rs117527954 DHH Synonymous SNV H181H 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 Benign 9.012 66427 chr12 78452800 78452800 C T rs767660334 NAV3 Synonymous SNV N847N 0 0.003 0 5 0 1 0.013 0 0 0 0 0 11.27 66428 chr12 21174496 21174496 C T rs12824121 SLCO1B7 Nonsynonymous SNV P107L 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 11.36 66429 chr12 119540049 119540049 C T rs182742763 SRRM4 Nonsynonymous SNV P47L 0.008 0.016 0 5 9 6 0.013 0 1 0 0 0 23.2 66430 chr2 242651459 242651459 C T rs150199953 ING5 Nonsynonymous SNV T152I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 19.62 66431 chr13 113669099 113669099 C T rs139777066 MCF2L Synonymous SNV I34I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.86 66432 chr13 32805419 32805419 T C rs55673178 FRY Nonsynonymous SNV F1837L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 23.1 66433 chr2 242839363 242839363 G C rs4973668 LOC285095 0 0 0.415 0 0 0 0 122 0 0 22 0 0.043 66434 chr12 21965027 21965027 A C rs565927065 ABCC9 Synonymous SNV L1389L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.441 66435 chr2 25044453 25044453 C T rs549333173 ADCY3 Synonymous SNV A1021A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 66436 chr12 125834844 125834844 T C rs200555225 TMEM132B Nonsynonymous SNV L305S 0.009 0.01 0 6 11 4 0.015 0 0 0 0 0 8.013 66437 chr13 27847166 27847166 C T rs41291668 RASL11A Synonymous SNV I46I 0.006 0.018 0.01 9 7 7 0.023 3 0 0 0 0 17.36 66438 chr12 250285 250285 T A LOC574538 0.014 0.01 0 5 17 4 0.013 0 0 0 0 0 11.76 66439 chr2 25384169 25384169 G A rs2071345 POMC Synonymous SNV A195A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.713 66440 chr2 25384472 25384472 G A rs28930368 POMC Synonymous SNV S94S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.03 66441 chr12 81028729 81028729 G A rs562981127 PTPRQ Nonsynonymous SNV R1759Q 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 25.3 66442 chr13 35735976 35735976 A G rs17051895 NBEA Synonymous SNV R1317R 0.047 0.057 0.054 19 55 22 0.049 16 3 0 1 0 9.857 66443 chr13 28712689 28712689 C G rs138028125 PAN3-AS1 0.013 0.01 0.007 3 15 4 0.008 2 1 1 0 0 13.39 66444 chr12 26774149 26774149 T C rs61754418 ITPR2 Synonymous SNV V1123V 0.026 0.021 0.014 7 30 8 0.018 4 0 0 0 0 0.282 66445 chr2 26702409 26702409 C T rs61746988 OTOF Synonymous SNV E675E 0.011 0.013 0.014 0 13 5 0 4 0 1 0 0 Benign/Likely benign 6.863 66446 chr13 21331624 21331624 - TTA EEF1AKMT1 D37_K38insN 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 66447 chr3 9885615 9885615 G C rs2290306 RPUSD3 Synonymous SNV V28V 0.083 0.07 0.071 32 98 27 0.082 21 4 1 1 0 0.584 66448 chr12 88523494 88523494 C G rs45502896 CEP290 Nonsynonymous SNV E277Q 0.029 0.029 0 6 34 11 0.015 0 0 0 0 0 Benign/Likely benign 25.1 66449 chr12 52652210 52652210 T A rs117031005 KRT87P 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 16.9 66450 chr2 27529324 27529324 G T rs369827511 TRIM54 Nonsynonymous SNV G331V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.5 66451 chr13 32828460 32828460 A G rs192351218 FRY Nonsynonymous SNV T2449A 0.009 0.008 0.014 3 11 3 0.008 4 0 0 0 0 Benign 8.27 66452 chr13 39587813 39587813 T C rs148669353 PROSER1 Nonsynonymous SNV T504A 0.02 0.013 0.024 9 23 5 0.023 7 2 0 0 0 0.001 66453 chr12 9009779 9009779 C T rs56179521 A2ML1 Synonymous SNV A465A 0.033 0.034 0.031 8 39 13 0.021 9 0 0 0 0 Benign 19 66454 chr3 10491052 10491052 C T rs149328739 ATP2B2 Nonsynonymous SNV R59H 0.003 0 0 0 3 0 0 0 0 0 0 0 24 66455 chr13 33680945 33680945 C T rs117237914 STARD13 Synonymous SNV P940P 0.014 0.01 0.01 1 17 4 0.003 3 0 0 0 0 Benign 16.62 66456 chr12 91449223 91449223 C T rs371954775 KERA Nonsynonymous SNV R279Q 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 16.81 66457 chr12 123282707 123282707 T G CCDC62 Nonsynonymous SNV Y313D 0.008 0.005 0 4 9 2 0.01 0 1 0 0 0 21.4 66458 chr3 12854873 12854873 A T rs138783925 CAND2 Nonsynonymous SNV E238V 0.014 0.005 0.02 11 16 2 0.028 6 0 0 0 0 28.8 66459 chr12 52913925 52913925 C T rs74093478 KRT5 Synonymous SNV A52A 0.003 0.005 0.017 2 3 2 0.005 5 0 0 0 0 Benign/Likely benign 15 66460 chr12 123345900 123345900 C T rs142435037 HIP1R Nonsynonymous SNV R1000W 0.008 0.005 0 5 9 2 0.013 0 1 0 0 0 35 66461 chr13 39261565 39261565 C G rs141718695 FREM2 Synonymous SNV P28P 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.73 66462 chr13 39262731 39262731 T C rs571694324 FREM2 Nonsynonymous SNV L417P 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.804 66463 chr2 33360007 33360007 C T rs776093697 LTBP1 Nonsynonymous SNV T68M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 66464 chr12 57578721 57578721 A G LRP1 Nonsynonymous SNV M2096V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 12.35 66465 chr2 33487845 33487845 G A rs56136117 LTBP1 Synonymous SNV L499L 0.007 0.005 0.017 4 8 2 0.01 5 0 0 1 0 11.28 66466 chr13 27847550 27847550 C G rs148298639 RASL11A Synonymous SNV R174R 0.022 0.026 0.041 4 26 10 0.01 12 0 0 1 0 11.06 66467 chr12 57594552 57594552 C T rs139916336 LRP1 Synonymous SNV C3393C 0.008 0.013 0.01 0 9 5 0 3 0 0 0 0 Benign 16.65 66468 chr12 57624701 57624701 C T rs73338162 SHMT2 Nonsynonymous SNV S50L 0.008 0.013 0.01 0 9 5 0 3 0 0 0 0 23 66469 chr12 95879681 95879681 G C rs148941453 METAP2 Nonsynonymous SNV V95L 0.006 0.008 0 5 7 3 0.013 0 1 0 0 0 23.3 66470 chr2 36706788 36706788 C G rs138940127 CRIM1 Synonymous SNV T441T 0.003 0.003 0.02 1 3 1 0.003 6 0 0 1 0 Benign 15.23 66471 chr12 96181228 96181228 C A rs34684875 NTN4 Nonsynonymous SNV G25V 0.011 0.01 0.02 3 13 4 0.008 6 0 0 0 0 Benign 23.2 66472 chr13 29855847 29855847 C T rs3751336 MTUS2 Nonsynonymous SNV T884I 0.02 0.026 0.01 12 24 10 0.031 3 0 0 0 0 26.2 66473 chr12 53238387 53238387 C T rs61764061 KRT78 Nonsynonymous SNV A183T 0.015 0.01 0.014 0 18 4 0 4 0 0 0 0 22.7 66474 chr12 96422917 96422917 C A LTA4H Nonsynonymous SNV G69V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.7 66475 chr12 53240025 53240025 C T rs10876360 KRT78 Nonsynonymous SNV A128T 0.015 0.01 0.02 1 18 4 0.003 6 0 0 0 0 0.821 66476 chr3 14770001 14770001 C G rs35363400 C3orf20 Nonsynonymous SNV F460L 0.005 0.008 0.003 4 6 3 0.01 1 0 0 0 0 0.224 66477 chr12 53242641 53242641 C T rs11170289 KRT78 Nonsynonymous SNV R25H 0.016 0.01 0.02 0 19 4 0 6 0 0 0 0 12.32 66478 chr13 46104849 46104849 C T rs62637564 COG3 Synonymous SNV H797H 0.014 0.023 0.031 7 17 9 0.018 9 0 0 0 0 11.72 66479 chr12 96992512 96992512 C G rs772845837 CFAP54 Nonsynonymous SNV H1202Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.7 66480 chr3 15520486 15520486 T C rs142980906 COLQ Nonsynonymous SNV K97E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.4 66481 chr12 125576054 125576054 G A rs774728128 AACS Synonymous SNV P185P 0.008 0.005 0 3 9 2 0.008 0 1 0 0 0 9.683 66482 chr12 53447185 53447185 C T rs138594065 LOC283335 0.014 0.008 0 0 17 3 0 0 0 0 0 0 10.7 66483 chr13 32782997 32782997 C T rs182574298 FRY Synonymous SNV S1342S 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 Benign 13.83 66484 chr12 129154069 129154069 G A rs139397925 TMEM132C Synonymous SNV S471S 0.003 0 0.007 4 3 0 0.01 2 0 0 0 0 10.89 66485 chr3 19436783 19436783 G T rs774727569 KCNH8 Nonsynonymous SNV S386I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.1 66486 chr3 19559510 19559510 G C rs148330866 KCNH8 Nonsynonymous SNV V855L 0.02 0.01 0.017 2 23 4 0.005 5 0 0 0 0 15.56 66487 chr2 44099256 44099256 A T rs148185316 ABCG8 Nonsynonymous SNV D369V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.258 66488 chr13 32914236 32914236 C T rs4987117 BRCA2 Nonsynonymous SNV T1915M 0.015 0.031 0.007 6 18 12 0.015 2 1 0 0 0 Benign 6.136 66489 chr12 62783462 62783462 A G rs61760205 USP15 Synonymous SNV E296E 0.009 0.01 0.007 8 11 4 0.021 2 0 0 0 0 4.815 66490 chr2 45801808 45801808 A G rs137971515 SRBD1 Nonsynonymous SNV M376T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 66491 chr13 100188895 100188895 C T rs141451986 TM9SF2 Synonymous SNV Y165Y 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.76 66492 chr3 23848835 23848835 A C rs36060625 UBE2E1 Nonsynonymous SNV E25D 0.055 0.039 0.061 11 64 15 0.028 18 2 1 0 1 7.952 66493 chr13 49762729 49762729 G A rs367719937 FNDC3A Nonsynonymous SNV R579H 0.003 0.01 0 4 3 4 0.01 0 0 0 0 0 25 66494 chr12 53925589 53925589 C T rs199777559 ATF7, ATF7-NPFF Nonsynonymous SNV R234H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 66495 chr3 23934772 23934772 G A rs3762775 NKIRAS1 Synonymous SNV D131D 0.067 0.057 0.085 16 79 22 0.041 25 4 2 0 1 10.82 66496 chr12 54332971 54332971 C A rs35956662 HOXC13 Nonsynonymous SNV T94K 0.009 0 0 4 11 0 0.01 0 0 0 0 0 23.1 66497 chr2 50574047 50574047 G A rs766942777 NRXN1 Nonsynonymous SNV S14L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Uncertain significance 7.953 66498 chr2 52929680 52929680 T C rs6726779 MIR4431 0 0 0.439 0 0 0 0 129 0 0 30 0 2.273 66499 chr12 64746807 64746807 C T rs147571015 C12orf56 Synonymous SNV S94S 0.017 0.01 0.01 8 20 4 0.021 3 0 0 0 1 11.12 66500 chr13 52515357 52515357 G C rs199924281 ATP7B Nonsynonymous SNV A932G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 7.162 66501 chr12 13237908 13237908 T G GSG1 Nonsynonymous SNV K252T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.57 66502 chr12 55688901 55688901 C T OR6C6 Nonsynonymous SNV G39E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 66503 chr12 55726314 55726314 C G OR6C3 Nonsynonymous SNV S277C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 66504 chr13 41905453 41905453 G A rs151077263 NAA16 Synonymous SNV K285K 0.013 0.005 0.007 4 15 2 0.01 2 0 0 0 0 11.38 66505 chr13 61989235 61989235 C T rs114633084 PCDH20 Synonymous SNV P19P 0.012 0.013 0.01 12 14 5 0.031 3 0 0 0 0 13.41 66506 chr12 56117700 56117700 C G rs13193 RDH5 Synonymous SNV V200V 0.051 0.026 0.051 13 60 10 0.033 15 2 0 3 1 Benign 11.81 66507 chr13 73335809 73335809 C T rs144010862 DIS3 Nonsynonymous SNV R706H 0 0.005 0 0 0 2 0 0 0 0 0 0 35 66508 chr12 66517685 66517685 G A rs771222748 LLPH Stop gain R109X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 66509 chr2 63631750 63631750 G A rs374934704 WDPCP Nonsynonymous SNV R131C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.93 66510 chr12 56740283 56740283 A C STAT2 Nonsynonymous SNV F663V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 66511 chr12 6675769 6675771 CTC - rs201706903 NOP2 R55del 0.011 0.008 0.02 0 13 3 0 6 0 0 0 0 66512 chr2 65131288 65131288 T G rs12620069 LINC02245 0 0 0.102 0 0 0 0 30 0 0 3 0 3.666 66513 chr2 65131523 65131523 A T rs12623286 LINC02245 0 0 0.16 0 0 0 0 47 0 0 3 0 6.784 66514 chr13 107145610 107145610 C T rs41275060 EFNB2 Synonymous SNV S260S 0.013 0.01 0.017 7 15 4 0.018 5 0 0 0 0 18.71 66515 chr2 65131732 65131732 G A rs735473 LINC02245 0 0 0.146 0 0 0 0 43 0 0 3 0 7.46 66516 chr12 66838450 66838450 T C rs915390521 GRIP1 Nonsynonymous SNV D482G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.5 66517 chr12 49433883 49433883 G A rs189888707 KMT2D Nonsynonymous SNV P2557L 0.011 0.01 0.014 4 13 4 0.01 4 1 0 0 0 Benign 23.4 66518 chr3 39166915 39166915 C T rs143968783 TTC21A Synonymous SNV H387H 0.01 0.003 0 3 12 1 0.008 0 0 0 0 0 12.21 66519 chr12 32687352 32687352 A G rs17537634 FGD4 Nonsynonymous SNV K4R 0.015 0.008 0.014 2 18 3 0.005 4 0 0 0 0 7.589 66520 chr12 57674246 57674246 G C rs77784795 R3HDM2 Synonymous SNV L381L 0.024 0.018 0.014 5 28 7 0.013 4 0 0 0 0 11.29 66521 chr3 39229781 39229781 C T rs145699338 XIRP1 Nonsynonymous SNV E386K 0.012 0.003 0 3 14 1 0.008 0 0 0 0 0 29.7 66522 chr12 57870726 57870726 T C rs35090815 ARHGAP9 Synonymous SNV Q113Q 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 0.005 66523 chr12 58004070 58004070 G A rs113892147 ARHGEF25 Nonsynonymous SNV R24H 0.018 0.01 0.014 4 21 4 0.01 4 0 0 0 0 27.9 66524 chr13 113720477 113720477 G A rs143965865 MCF2L Nonsynonymous SNV V254M 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 Benign 23.3 66525 chr13 50306528 50306528 T C rs34024081 KPNA3 Nonsynonymous SNV K121R 0.008 0.018 0.003 6 9 7 0.015 1 0 0 0 0 18.05 66526 chr12 59267876 59267876 G A rs750848857 LRIG3 Nonsynonymous SNV P966S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.145 66527 chr13 114058426 114058426 G - LOC101928841 A1360Vfs*35 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 66528 chr13 114058428 114058432 CCGTT - LOC101928841 E1358Gfs*100 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 66529 chr12 59267949 59267949 A G rs61754176 LRIG3 Synonymous SNV S941S 0.009 0.01 0.01 3 11 4 0.008 3 0 0 0 0 1.402 66530 chr12 41967079 41967079 A G rs11181011 PDZRN4 Nonsynonymous SNV Y575C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.97 66531 chr3 42599171 42599171 C T rs146063264 SEC22C Nonsynonymous SNV E182K 0.009 0.01 0.02 4 10 4 0.01 6 0 0 0 0 23.3 66532 chr13 52603896 52603896 G A rs17402034 UTP14C Nonsynonymous SNV R319H 0.054 0.042 0.048 9 63 16 0.023 14 5 1 0 0 23.5 66533 chr12 52285101 52285101 A C rs202069826 ANKRD33 Nonsynonymous SNV I197L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 12.77 66534 chr14 102482736 102482736 A G rs17541179 DYNC1H1 Synonymous SNV L2508L 0.014 0.01 0.007 3 16 4 0.008 2 0 0 0 0 Benign 7.525 66535 chr12 46245799 46245799 A G rs1020912002 ARID2 Nonsynonymous SNV K1298R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24.5 66536 chr14 102792489 102792489 G A rs7157941 ZNF839 Synonymous SNV R36R 0.014 0.018 0.027 7 16 7 0.018 8 0 0 0 0 8.609 66537 chr2 74213609 74213609 G A rs142623499 TET3 Nonsynonymous SNV V27I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 21.4 66538 chr2 74274157 74274157 G A rs146447469 TET3 Synonymous SNV P278P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.867 66539 chr2 74688546 74688546 G A rs575627551 MOGS Synonymous SNV N790N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.985 66540 chr14 102912150 102912150 C A rs62000389 TECPR2 Nonsynonymous SNV Q981K 0.012 0.013 0.01 5 14 5 0.013 3 0 0 0 0 Benign 23.7 66541 chr14 102973900 102973900 G A rs146061439 ANKRD9 Synonymous SNV C109C 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 5.222 66542 chr13 23906983 23906983 G C rs17078601 SACS Nonsynonymous SNV P3531A 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 Benign/Likely benign 25.9 66543 chr14 103449947 103449947 C T rs763081501 CDC42BPB Synonymous SNV T279T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 66544 chr2 74779683 74779683 G C rs146972503 LOXL3 Nonsynonymous SNV P27A 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Benign/Likely benign 22.3 66545 chr2 75105840 75105840 C G HK2 Nonsynonymous SNV R353G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 66546 chr14 103576395 103576395 G A rs729185 EXOC3L4 Synonymous SNV A668A 0.078 0.081 0.139 30 91 31 0.077 41 5 3 5 0 7.621 66547 chr12 48482726 48482726 T C rs112688170 SENP1 Nonsynonymous SNV S80G 0.014 0.013 0.01 7 16 5 0.018 3 0 0 0 0 Benign 22.8 66548 chr12 52913971 52913971 C T rs61747181 KRT5 Nonsynonymous SNV R37Q 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign/Likely benign 21.6 66549 chr14 103601637 103601637 C T rs2234147 TNFAIP2 Synonymous SNV D635D 0.013 0.013 0.027 5 15 5 0.013 8 1 0 1 0 10.75 66550 chr2 79364979 79364979 G A rs892867 REG1CP 0 0 0.405 0 0 0 0 119 0 0 37 0 3.148 66551 chr12 4854722 4854722 G A rs201387598 GALNT8 Nonsynonymous SNV E330K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.93 66552 chr14 105964144 105964144 C G rs138505168 TEDC1 Nonsynonymous SNV L228V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 66553 chr12 667726 667726 G C rs61730392 B4GALNT3 Nonsynonymous SNV G887A 0.015 0.008 0.014 3 18 3 0.008 4 0 0 0 0 8.765 66554 chr13 99083321 99083321 C T rs61730892 FARP1 Nonsynonymous SNV H644Y 0.055 0.042 0.014 17 65 16 0.044 4 1 0 0 0 29.9 66555 chr12 48597051 48597051 T G rs112948514 OR10AD1 Nonsynonymous SNV T9P 0.014 0.016 0.01 8 16 6 0.021 3 0 0 0 0 17.94 66556 chr12 66859181 66859181 C A rs545072949 GRIP1 Nonsynonymous SNV G249V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 66557 chr13 25889495 25889495 G A rs35924025 NUP58 Nonsynonymous SNV G180E 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 24.3 66558 chr12 670545 670545 C T B4GALNT3 Synonymous SNV S975S 0.006 0 0 0 7 0 0 0 0 0 0 0 13.81 66559 chr2 85843348 85843348 C T rs11544042 USP39 Synonymous SNV R10R 0.078 0.063 0.051 26 92 24 0.067 15 5 2 4 4 20.6 66560 chr3 45942554 45942554 A G rs45530037 CCR9 Nonsynonymous SNV I80V 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 0.001 66561 chr12 2944024 2944024 G C rs35645225 NRIP2 Synonymous SNV P42P 0.036 0.023 0.037 17 42 9 0.044 11 2 0 0 0 2.948 66562 chr2 86333454 86333454 T G PTCD3 Nonsynonymous SNV C28W 0 0 0.003 0 0 0 0 1 0 0 0 0 8.755 66563 chr2 86371900 86371902 TAG - IMMT T588del 0 0 0.003 0 0 0 0 1 0 0 0 0 66564 chr12 2973547 2973547 G T rs28990715 FOXM1 Nonsynonymous SNV A387E 0.017 0.01 0.024 14 20 4 0.036 7 1 0 0 1 28.8 66565 chr12 88456549 88456549 C - rs771454167 CEP290 V2093Sfs*4 0.006 0.003 0 0 7 1 0 0 0 0 0 0 66566 chr13 30097417 30097417 G A rs117900613 SLC7A1 Synonymous SNV C345C 0.027 0.049 0.031 13 32 19 0.033 9 1 2 0 0 10.53 66567 chr2 88482317 88482317 C T rs759180679 THNSL2 Nonsynonymous SNV S143F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 66568 chr12 89917230 89917230 T C rs201453476 GALNT4, POC1B-GALNT4 Nonsynonymous SNV K366R 0.008 0.003 0 0 9 1 0 0 0 0 0 0 15.16 66569 chr3 46621450 46621450 G T rs13075468 TDGF1 Synonymous SNV G100G 0.013 0.01 0.017 9 15 4 0.023 5 0 0 0 0 2.654 66570 chr3 46755734 46755734 G A rs149792396 PRSS50 Nonsynonymous SNV T243M 0.003 0 0 0 3 0 0 0 0 0 0 0 23 66571 chr2 96919598 96919598 G A rs373951977 TMEM127 Nonsynonymous SNV A222V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.19 66572 chr12 32137362 32137362 G A rs141047715 RESF1 Nonsynonymous SNV R1158H 0.002 0 0 5 2 0 0.013 0 0 0 0 0 9.039 66573 chr12 71094955 71094955 C T rs35387004 PTPRR Nonsynonymous SNV V141I 0.016 0.005 0.02 1 19 2 0.003 6 0 0 0 0 11.8 66574 chr14 105517675 105517675 C T rs61737948 GPR132 Nonsynonymous SNV A79T 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 16.95 66575 chr14 21238322 21238322 C G rs3827906 EDDM3B Nonsynonymous SNV L5V 0.035 0.026 0.034 12 41 10 0.031 10 0 0 0 0 0.226 66576 chr12 91358072 91358072 G A rs34988585 EPYC Nonsynonymous SNV T277M 0.008 0.005 0 0 9 2 0 0 0 0 0 0 33 66577 chr12 92387267 92387267 T G rs10047661 LINC01619 0.04 0.026 0 21 47 10 0.054 0 2 0 0 0 4.267 66578 chr12 53586255 53586255 G A rs11539433 ITGB7 Nonsynonymous SNV H672Y 0.011 0.01 0.01 6 13 4 0.015 3 0 0 0 0 Benign 12.67 66579 chr12 53588106 53588106 A G rs769728483 ITGB7 Nonsynonymous SNV L395P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 66580 chr2 98928757 98928757 C T rs2271038 VWA3B Nonsynonymous SNV T934I 0.008 0.013 0.014 2 9 5 0.005 4 0 0 0 0 0.584 66581 chr3 48205882 48205882 A G rs146192731 CDC25A Synonymous SNV L373L 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 10.36 66582 chr14 20502044 20502044 G T rs17277025 OR4K13 Nonsynonymous SNV Q292K 0.02 0.018 0.034 7 24 7 0.018 10 1 1 1 0 0.002 66583 chr3 100274154 100274154 G A rs141815205 TMEM45A Synonymous SNV K33K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.78 66584 chr12 52402998 52402998 C T rs73104710 GRASP Nonsynonymous SNV L91F 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 23.8 66585 chr3 101080641 101080641 T C rs778801381 SENP7 Nonsynonymous SNV N350S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 66586 chr13 37678884 37678884 C G rs17773251 CSNK1A1L Nonsynonymous SNV R170S 0.109 0.089 0.102 42 128 34 0.108 30 9 3 3 0 23.1 66587 chr12 41900463 41900463 G A rs35577124 PDZRN4 Nonsynonymous SNV R92H 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 23.2 66588 chr13 38211371 38211371 G C TRPC4 Stop gain S695X 0.003 0.005 0 0 4 2 0 0 0 0 0 0 46 66589 chr12 53805021 53805021 C T rs145573092 SP1 Synonymous SNV F737F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.98 66590 chr13 39541149 39541149 G A rs140319813 STOML3 Nonsynonymous SNV S230F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.3 66591 chr12 43828153 43828153 G A rs370653700 ADAMTS20 Nonsynonymous SNV T872I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.92 66592 chr3 105260524 105260524 T C rs35271455 ALCAM Synonymous SNV D302D 0.006 0.013 0.02 3 7 5 0.008 6 0 0 0 0 7.743 66593 chr3 107646728 107646728 G A rs4855779 LINC00636 0 0 0.473 0 0 0 0 139 0 0 28 0 17.87 66594 chr3 49167684 49167684 C T rs150202979 LAMB2 Nonsynonymous SNV R402Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 28.7 66595 chr3 107646807 107646807 G T rs9837335 LINC00636 0 0 0.361 0 0 0 0 106 0 0 17 0 7.494 66596 chr3 107646895 107646895 T C rs9861097 LINC00636 0 0 0.374 0 0 0 0 110 0 0 18 0 8.578 66597 chr3 107647002 107647002 A - rs35976982 LINC00636 0 0 0.299 0 0 0 0 88 0 0 16 0 66598 chr13 42352171 42352171 T C rs78259398 VWA8 Nonsynonymous SNV M767V 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 24.8 66599 chr12 85264318 85264318 G T rs35772840 SLC6A15 Synonymous SNV T371T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.928 66600 chr12 85277592 85277592 C T rs77477149 SLC6A15 Nonsynonymous SNV G268R 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 4.512 66601 chr3 108897116 108897116 G A rs11552473 LINC00488 0 0 0.065 0 0 0 0 19 0 0 1 0 1.676 66602 chr3 108897123 108897123 G T rs62621254 LINC00488 0 0 0.065 0 0 0 0 19 0 0 1 0 1.073 66603 chr12 85277615 85277615 A G rs79063785 SLC6A15 Nonsynonymous SNV L260P 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 4.625 66604 chr3 109213239 109213239 G A rs709428 LINC01205 0 0 0.204 0 0 0 0 60 0 0 28 0 5.539 66605 chr12 85450426 85450426 G A rs74720621 LRRIQ1 Nonsynonymous SNV E619K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 18.73 66606 chr12 85517977 85517977 A G rs61740038 LRRIQ1 Synonymous SNV E1229E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.964 66607 chr12 9751202 9751202 C T rs141057839 KLRB1 Nonsynonymous SNV E103K 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 11.06 66608 chr13 45517757 45517757 A T rs61742037 NUFIP1 Nonsynonymous SNV D397E 0.017 0.013 0 6 20 5 0.015 0 1 0 0 0 Benign 0.087 66609 chr12 88379715 88379715 C T rs77110438 C12orf50 Synonymous SNV A307A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 10.4 66610 chr12 987490 987490 C T rs141428612 WNK1 Nonsynonymous SNV A778V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 16.13 66611 chr14 21458181 21458181 G A rs140652112 METTL17 Nonsynonymous SNV C7Y 0.003 0.005 0.007 5 4 2 0.013 2 0 0 0 0 0.001 66612 chr12 55886415 55886415 C A OR6C68 Nonsynonymous SNV T85N 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 12.97 66613 chr12 88512485 88512485 A G rs147371999 CEP290 Nonsynonymous SNV F520L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 66614 chr14 21464202 21464202 A G rs10150215 LOC101929718 0.01 0.021 0.014 2 12 8 0.005 4 0 0 0 0 10.09 66615 chr12 53162749 53162749 G A rs140093642 KRT76 Synonymous SNV S555S 0.026 0.034 0.034 8 31 13 0.021 10 1 1 1 0 8.682 66616 chr12 9001338 9001338 G C rs369180298 A2ML1 Nonsynonymous SNV W128S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 17.03 66617 chr13 46562926 46562926 C T rs34502226 ZC3H13 Synonymous SNV R417R 0.005 0.013 0.003 0 6 5 0 1 0 0 0 0 14.43 66618 chr12 53165684 53165684 G A rs147080851 KRT76 Nonsynonymous SNV R412W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 66619 chr13 100511247 100511247 G A rs35680839 CLYBL Nonsynonymous SNV V128I 0.028 0.021 0.027 7 33 8 0.018 8 1 0 0 0 17.76 66620 chr12 48596742 48596742 C T rs139287640 OR10AD1 Nonsynonymous SNV E112K 0.005 0.013 0.003 5 6 5 0.013 1 0 0 0 0 21.3 66621 chr12 53166603 53166603 T C rs61730600 KRT76 Synonymous SNV T312T 0.026 0.034 0.034 8 30 13 0.021 10 1 1 1 0 1.719 66622 chr12 56481419 56481419 C T ERBB3 Synonymous SNV C202C 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 11.83 66623 chr12 53227957 53227957 G A rs142757937 KRT79 Nonsynonymous SNV R30C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 66624 chr13 48528552 48528552 C T rs772228438 SUCLA2 Nonsynonymous SNV D315N 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Uncertain significance 23.9 66625 chr12 91502250 91502250 A G rs17853500 LUM Synonymous SNV N169N 0.026 0.018 0.037 7 31 7 0.018 11 0 0 0 0 0.056 66626 chr3 52398964 52398964 A G DNAH1 Nonsynonymous SNV D1816G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.1 66627 chr12 49220259 49220259 G A rs186654716 CACNB3 Synonymous SNV S243S 0.003 0.008 0.007 4 3 3 0.01 2 0 0 0 0 10.56 66628 chr12 53455961 53455961 G A rs1024819716 TNS2 Nonsynonymous SNV R1210H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 66629 chr12 57858576 57858576 C A rs139570630 GLI1 Nonsynonymous SNV S64Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 27.6 66630 chr12 94729373 94729373 G A rs139046818 CEP83 Synonymous SNV L396L 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 Benign 11.54 66631 chr3 11684957 11684957 C T rs1803489 VGLL4 Synonymous SNV Q12Q 0.017 0.016 0.017 6 20 6 0.015 5 1 0 0 0 16.76 66632 chr14 23524381 23524381 C T rs530370599 CDH24 Nonsynonymous SNV R128Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26 66633 chr12 50048710 50048710 T C rs1000455260 FMNL3 Nonsynonymous SNV S264G 0.002 0.008 0 5 2 3 0.013 0 0 0 0 0 16.63 66634 chr12 50386359 50386359 T C rs747785439 RACGAP1 Synonymous SNV L415L 0.002 0.008 0 5 2 3 0.013 0 0 0 0 0 5.72 66635 chr12 53708910 53708910 A G rs11540353 AAAS Synonymous SNV D138D 0.056 0.063 0.071 19 66 24 0.049 21 0 1 2 0 Likely benign 6.986 66636 chr12 58022000 58022000 T C rs144643461 B4GALNT1 Nonsynonymous SNV K295E 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Uncertain significance 24.4 66637 chr12 58168493 58168493 A G rs149883688 EEF1AKMT3 Nonsynonymous SNV H124R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.561 66638 chr12 6103094 6103094 C A rs34230288 VWF Nonsynonymous SNV A2178S 0.013 0.005 0.007 4 15 2 0.01 2 0 0 0 0 Likely benign 8.584 66639 chr12 6140659 6140659 C T rs33978901 VWF Nonsynonymous SNV R924Q 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 Benign/Likely benign 22.9 66640 chr13 74269696 74269696 C G rs747411673 KLF12 Synonymous SNV A380A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.24 66641 chr13 76197458 76197458 T C rs7982750 LMO7 0.003 0.008 0.01 4 3 3 0.01 3 0 0 0 0 5.937 66642 chr3 53916078 53916078 G A rs138305828 ACTR8 Synonymous SNV G17G 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 12.56 66643 chr13 76445301 76445301 C T rs78397591 LMO7DN Synonymous SNV D13D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 9.744 66644 chr13 111929973 111929973 T C rs141685999 ARHGEF7 Synonymous SNV L252L 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Benign 0.469 66645 chr13 78472425 78472425 G C rs139317762 EDNRB Synonymous SNV S413S 0.007 0.003 0.02 3 8 1 0.008 6 0 0 0 0 Conflicting interpretations of pathogenicity 9.695 66646 chr3 56653424 56653424 A T rs61747991 CCDC66 Nonsynonymous SNV E802V 0.066 0.057 0.085 24 78 22 0.062 25 4 0 2 3 23.4 66647 chr3 56653427 56653427 T C rs61747994 CCDC66 Nonsynonymous SNV L803S 0.066 0.057 0.085 24 78 22 0.062 25 4 0 2 3 0.11 66648 chr13 94482753 94482753 C T GPC6 Synonymous SNV V222V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 66649 chr13 100204484 100204484 T C rs138380577 TM9SF2 Synonymous SNV A464A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 66650 chr14 23532157 23532157 A G ACIN1 Nonsynonymous SNV I286T 0 0.003 0 0 0 1 0 0 0 0 0 0 29 66651 chr13 113818851 113818851 G T rs763340899 PROZ Nonsynonymous SNV R133L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.1 66652 chr12 56075840 56075840 C T rs74421938 METTL7B Nonsynonymous SNV P101L 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 33 66653 chr12 52385678 52385678 C T rs373149746 ACVR1B Synonymous SNV Y431Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.41 66654 chr3 122605701 122605701 T A rs6438769 LINC02035 0 0 0.201 0 0 0 0 59 0 0 9 0 1.198 66655 chr12 56222194 56222194 T G rs77764447 DNAJC14 Synonymous SNV P83P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 3.891 66656 chr14 23770857 23770857 C T PPP1R3E Nonsynonymous SNV G210S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 66657 chr3 58131752 58131752 A G FLNB Nonsynonymous SNV I1820V 0.003 0 0 0 3 0 0 0 0 0 0 0 15.57 66658 chr13 114535377 114535377 G A rs374445149 GAS6 Synonymous SNV I346I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 12.81 66659 chr13 99947649 99947649 C T rs201755595 GPR183 Nonsynonymous SNV V251I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.073 66660 chr3 124093220 124093220 G A rs78790512 MIR6083 0 0 0.139 0 0 0 0 41 0 0 1 0 5.124 66661 chr12 56811937 56811937 C T rs61937716 TIMELESS Synonymous SNV A1144A 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 Benign 12.21 66662 chr12 66641813 66641813 C T rs11465988 IRAK3 Synonymous SNV S490S 0.013 0.008 0.007 0 15 3 0 2 0 0 0 0 11.73 66663 chr3 58852298 58852298 G C rs139315615 C3orf67 Nonsynonymous SNV Q363E 0.005 0.003 0.01 7 6 1 0.018 3 0 0 0 0 Likely benign 10.17 66664 chr3 62543123 62543123 T C rs4396888 CADPS Synonymous SNV L570L 0.047 0.042 0.031 16 55 16 0.041 9 3 0 0 1 1.895 66665 chr14 31358743 31358743 G A rs29001672 LOC100506071 0.003 0.005 0.01 5 4 2 0.013 3 0 0 0 0 6.684 66666 chr3 64008349 64008349 G A rs17069696 PSMD6 Nonsynonymous SNV P92S 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 0.684 66667 chr12 66786171 66786171 A C rs144494437 GRIP1 Nonsynonymous SNV M742R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.058 66668 chr12 52788948 52788948 G A rs146477429 KRT82 Synonymous SNV Y451Y 0.002 0.005 0 8 2 2 0.021 0 0 0 0 0 0.199 66669 chr3 64601084 64601084 G A rs113120327 ADAMTS9 Synonymous SNV D1006D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 1.966 66670 chr14 31922515 31922515 G A rs61754291 DTD2 Synonymous SNV F49F 0.014 0.021 0.031 8 17 8 0.021 9 1 0 0 0 11.84 66671 chr12 6933595 6933595 C T rs782380177 GPR162 Synonymous SNV L177L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.932 66672 chr3 69096928 69096928 A T rs191239433 TMF1 Nonsynonymous SNV F310I 0.003 0 0 0 4 0 0 0 0 0 0 0 18.45 66673 chr14 24769849 24769849 - GAGGAGGAG NOP9 E169_D170insEEE 0.055 0.049 0.027 31 64 19 0.079 8 0 0 2 1 66674 chr3 72891547 72891547 A C rs78491606 SHQ1 Nonsynonymous SNV F72C 0.013 0.01 0.007 3 15 4 0.008 2 0 0 0 0 27 66675 chr14 103059316 103059316 C T rs569399655 RCOR1 Synonymous SNV S31S 0.018 0.023 0.003 12 21 9 0.031 1 1 0 0 0 12.04 66676 chr3 126260995 126260995 C T rs7614066 CHST13 Synonymous SNV Y200Y 0.026 0.029 0.031 7 31 11 0.018 9 1 0 0 0 5.428 66677 chr12 70954464 70954464 C T rs17108344 PTPRB Synonymous SNV A1165A 0.015 0.01 0.003 9 18 4 0.023 1 0 0 0 0 18.08 66678 chr3 78685024 78685024 C T rs35456279 ROBO1 Nonsynonymous SNV S991N 0.044 0.026 0.061 14 52 10 0.036 18 1 0 0 0 20.8 66679 chr3 126916061 126916063 CCT - rs755151731 C3orf56 P178_Y179delinsH 0 0 0.003 0 0 0 0 1 0 0 0 0 66680 chr3 127323772 127323772 G A rs35343063 MCM2 Nonsynonymous SNV R149H 0 0 0.007 0 0 0 0 2 0 0 0 0 27.3 66681 chr12 58350618 58350618 C T rs117230607 ATP23 Nonsynonymous SNV A111V 0.014 0.01 0.02 3 16 4 0.008 6 0 0 0 0 31 66682 chr13 27257004 27257004 C T rs17084492 WASF3 Nonsynonymous SNV S412L 0.018 0.01 0.031 9 21 4 0.023 9 0 0 0 0 18.74 66683 chr3 93769677 93769677 G A rs146264035 ARL13B Nonsynonymous SNV G277E 0.008 0.003 0.01 4 9 1 0.01 3 0 0 0 1 Conflicting interpretations of pathogenicity 22.6 66684 chr13 113508641 113508641 G A rs142008475 ATP11A Synonymous SNV G680G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 9.635 66685 chr3 129130197 129130197 T C rs9836111 EFCAB12 Nonsynonymous SNV H280R 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 0.001 66686 chr13 114061827 114061827 C T LOC101928841 Synonymous SNV V226V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.491 66687 chr13 30107104 30107104 G C rs139070266 SLC7A1 Nonsynonymous SNV A129G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 66688 chr3 129134242 129134242 G A rs16859327 EFCAB12 Synonymous SNV V228V 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 9.041 66689 chr12 6428021 6428021 G A rs769656914 PLEKHG6 Synonymous SNV V430V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 10.96 66690 chr3 129137127 129137127 G A rs3796392 EFCAB12 Synonymous SNV T217T 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 8.477 66691 chr3 129140499 129140499 T C rs3774787 EFCAB12 Nonsynonymous SNV E66G 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 3.985 66692 chr3 129155451 129155451 C T rs140693 MBD4 Nonsynonymous SNV E346K 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 7.088 66693 chr14 34985658 34985658 C T rs17856037 EAPP Nonsynonymous SNV R239Q 0.014 0.016 0.007 5 17 6 0.013 2 0 0 0 0 5.009 66694 chr13 114504663 114504663 G A rs41284482 TMEM255B Nonsynonymous SNV V183I 0.007 0.003 0.01 4 8 1 0.01 3 0 0 0 0 25.6 66695 chr14 34993982 34993982 G C rs17352411 EAPP Nonsynonymous SNV Q168E 0.014 0.016 0.007 5 17 6 0.013 2 0 0 0 0 0.589 66696 chr13 31848657 31848657 C T rs35019745 B3GLCT Synonymous SNV Y224Y 0.014 0.008 0.01 6 17 3 0.015 3 0 0 0 0 Benign 9.133 66697 chr13 114531565 114531565 C G rs8191975 GAS6 Synonymous SNV L421L 0.07 0.063 0.078 25 82 24 0.064 23 3 0 1 1 8.184 66698 chr3 107779614 107779614 A C rs767060992 CD47 Synonymous SNV V192V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.509 66699 chr3 130135644 130135644 C A rs76864445 COL6A5 Nonsynonymous SNV P1623H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24 66700 chr14 38060657 38060657 C T rs150277709 FOXA1 Synonymous SNV V444V 0.011 0.026 0.014 4 13 10 0.01 4 0 0 0 0 Benign 10.15 66701 chr14 38061053 38061053 A G rs1884802 FOXA1 Synonymous SNV G312G 0.007 0.018 0.007 4 8 7 0.01 2 0 0 0 0 0.006 66702 chr13 33016660 33016660 C T rs17077568 N4BP2L2 Nonsynonymous SNV E657K 0.034 0.031 0.027 7 40 12 0.018 8 1 0 0 0 13.1 66703 chr13 33017158 33017158 G T rs17077569 N4BP2L2 Nonsynonymous SNV R491S 0.034 0.031 0.024 7 40 12 0.018 7 1 0 0 0 5.321 66704 chr12 80771734 80771734 G A rs143495342 OTOGL Nonsynonymous SNV R2314Q 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Likely benign 20.8 66705 chr13 33704059 33704059 G A rs199633419 STARD13 Nonsynonymous SNV T244M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.119 66706 chr14 105453123 105453123 T A rs1025543582 CLBA1 Nonsynonymous SNV C119S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 66707 chr3 111603969 111603969 T C rs35404824 PHLDB2 Nonsynonymous SNV C349R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 9.821 66708 chr14 54997751 54997751 C T rs34839928 CGRRF1 Nonsynonymous SNV R185W 0.013 0.016 0.003 4 15 6 0.01 1 0 0 0 0 Benign 34 66709 chr12 8244400 8244400 C T rs201477687 NECAP1 Nonsynonymous SNV R113W 0.003 0 0 3 3 0 0.008 0 0 0 0 0 34 66710 chr14 44975880 44975880 G A rs374018207 FSCB Nonsynonymous SNV A104V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.007 66711 chr12 55038704 55038704 G T rs7301225 DCD Nonsynonymous SNV A106D 0.048 0.036 0.037 16 56 14 0.041 11 2 0 2 0 1.372 66712 chr13 37393904 37393904 T C rs193240312 RFXAP Nonsynonymous SNV M137T 0.022 0.018 0.02 16 26 7 0.041 6 1 1 1 1 Benign/Likely benign 0.015 66713 chr12 6927665 6927665 T C rs11064421 CD4 Nonsynonymous SNV I233T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.002 66714 chr12 55420443 55420443 A G rs996381904 NEUROD4 Nonsynonymous SNV K74E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.1 66715 chr13 23914588 23914588 G T rs144267558 SACS Nonsynonymous SNV Q996K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 66716 chr12 85450551 85450551 A G LRRIQ1 Synonymous SNV T660T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.025 66717 chr14 62249073 62249073 A G rs35009885 SNAPC1 Nonsynonymous SNV R312G 0.009 0.003 0.003 7 11 1 0.018 1 0 0 0 0 1.475 66718 chr12 7045901 7045906 CAGCAG - ATN1 Q501_Q502del 0.004 0 0 0 5 0 0 0 0 0 0 0 66719 chr14 51224944 51224944 T G NIN Nonsynonymous SNV D935A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 66720 chr13 25745098 25745098 G C rs201629500 AMER2 Synonymous SNV P220P 0.026 0.026 0.014 6 30 10 0.015 4 2 0 0 0 8.221 66721 chr12 72316847 72316847 A C TBC1D15 Nonsynonymous SNV N630H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 66722 chr12 56664048 56664048 C T rs3184994 COQ10A Nonsynonymous SNV P199S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 22.6 66723 chr14 52741496 52741496 G A rs41312502 PTGDR Synonymous SNV R298R 0.011 0.008 0.01 2 13 3 0.005 3 0 0 0 0 1.524 66724 chr14 62204819 62204819 G T rs149348765 HIF1A Nonsynonymous SNV D446Y 0.02 0.023 0.007 3 23 9 0.008 2 0 0 0 0 Benign 24.5 66725 chr13 31227339 31227339 G T rs147868952 USPL1 Nonsynonymous SNV L102F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.9 66726 chr14 55243152 55243152 C T rs1951437 SAMD4A Synonymous SNV P237P 0.041 0.026 0.031 17 48 10 0.044 9 0 0 0 1 15.98 66727 chr14 55243209 55243209 G A rs1951438 SAMD4A Synonymous SNV S256S 0.041 0.026 0.034 17 48 10 0.044 10 0 0 0 1 15.2 66728 chr14 69006922 69006922 A G rs2525524 RAD51B Nonsynonymous SNV R348G 0.022 0.016 0 9 26 6 0.023 0 4 2 0 0 16.49 66729 chr3 142402915 142402915 C T rs35435507 PLS1 Nonsynonymous SNV S216L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 16.08 66730 chr12 57910635 57910635 C T rs776822428 DDIT3 Nonsynonymous SNV R179H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 31 66731 chr12 57927083 57927083 C T rs200168725 DCTN2 Nonsynonymous SNV A227T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.5 66732 chr14 71137844 71137844 G T rs45621632 TTC9 Nonsynonymous SNV C214F 0.043 0.039 0.01 13 51 15 0.033 3 0 1 0 0 22.1 66733 chr14 21549035 21549035 C T rs139243448 ARHGEF40 Nonsynonymous SNV R120C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 29.6 66734 chr3 119531709 119531709 C T rs61755051 NR1I2 Synonymous SNV G232G 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 Benign 11.18 66735 chr12 58007824 58007824 A C ARHGEF25 Nonsynonymous SNV Q193P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.6 66736 chr14 65194532 65194534 CAA - PLEKHG3 N64del 0 0.003 0 0 0 1 0 0 0 0 0 0 66737 chr12 58007837 58007837 G T ARHGEF25 Nonsynonymous SNV E197D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.84 66738 chr3 150608769 150608769 C T rs533396251 MINDY4B Nonsynonymous SNV V215I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 66739 chr12 97017613 97017613 A G rs61939382 CFAP54 Synonymous SNV E1280E 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 3.32 66740 chr3 151163297 151163297 G T rs571172994 IGSF10 Nonsynonymous SNV A1491E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 66741 chr3 151598407 151598407 C T rs150010765 SUCNR1 Nonsynonymous SNV L26F 0 0 0.003 0 0 0 0 1 0 0 0 0 28 66742 chr14 70633411 70633411 C T rs41286548 SLC8A3 Nonsynonymous SNV G577S 0.016 0.016 0.031 11 19 6 0.028 9 0 0 0 1 29.8 66743 chr3 151986434 151986434 G C rs61743371 MBNL1-AS1 0 0 0.153 0 0 0 0 45 0 0 6 0 16.25 66744 chr3 15216541 15216541 G A rs17040821 COL6A4P1 0 0 0.092 0 0 0 0 27 0 0 2 0 14.11 66745 chr3 15216615 15216615 C T rs7639807 COL6A4P1 0 0 0.092 0 0 0 0 27 0 0 2 0 14.95 66746 chr3 15216791 15216791 T C rs7651842 COL6A4P1 0 0 0.092 0 0 0 0 27 0 0 2 0 7.79 66747 chr13 42874016 42874016 C T rs139822178 AKAP11 Synonymous SNV P378P 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 3.961 66748 chr13 75861001 75861001 A G rs557337 TBC1D4 Nonsynonymous SNV V1212A 0.057 0.047 0.082 21 67 18 0.054 24 3 1 1 0 Likely benign 0.352 66749 chr3 15467926 15467926 A G rs373785631 METTL6 Synonymous SNV D31D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.339 66750 chr3 15477940 15477940 C T rs34668493 EAF1 Synonymous SNV D206D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 18.82 66751 chr13 43361021 43361021 T A rs781781091 FAM216B 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.9 66752 chr12 91572234 91572234 C T rs780647595 DCN Synonymous SNV E32E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 15.12 66753 chr14 74192791 74192791 C T rs10147537 ELMSAN1 Synonymous SNV L810L 0.04 0.044 0.034 17 47 17 0.044 10 1 0 1 1 15.87 66754 chr3 159943849 159943849 G T rs139484601 C3orf80 Nonsynonymous SNV A143S 0.017 0.016 0.017 8 20 6 0.021 5 1 1 0 0 1.289 66755 chr3 161147239 161147239 C G rs772160885 LINC02067 0 0 0.214 0 0 0 0 63 0 0 0 0 9.795 66756 chr3 161147240 161147240 G A rs761591805 LINC02067 0 0 0.221 0 0 0 0 65 0 0 0 0 13.4 66757 chr3 161147247 161147247 G A rs754702905 LINC02067 0 0 0.197 0 0 0 0 58 0 0 0 0 12.17 66758 chr13 103396135 103396135 C T rs113303771 CCDC168 Synonymous SNV S2304S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 1.003 66759 chr12 6666415 6666415 G A rs200914055 NOP2 Nonsynonymous SNV P724L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.273 66760 chr14 74951269 74951269 T C rs142075589 NPC2 Nonsynonymous SNV K71R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 20.4 66761 chr14 23899793 23899793 G A rs2231124 MYH7 Synonymous SNV D325D 0.033 0.031 0.031 15 39 12 0.038 9 1 0 0 0 Benign 6.49 66762 chr12 94642058 94642058 A T PLXNC1 Nonsynonymous SNV H883L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 66763 chr12 6711145 6711147 TCC - rs71584865 CHD4 E132del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 66764 chr12 94772724 94772724 C T CEP83 Nonsynonymous SNV R140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 66765 chr12 6711150 6711150 C A rs150832622 CHD4 Nonsynonymous SNV E131D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 0.118 66766 chr3 124281844 124281844 C A rs78202770 KALRN Nonsynonymous SNV P1695Q 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 27.8 66767 chr13 99462473 99462473 C T rs61745987 DOCK9 Nonsynonymous SNV D1716N 0.006 0.005 0.01 4 7 2 0.01 3 0 0 0 0 34 66768 chr13 50123628 50123628 G A rs41284794 RCBTB1 Synonymous SNV A337A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.56 66769 chr14 69341650 69341650 C A rs147023729 ACTN1 Nonsynonymous SNV G869C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 66770 chr14 24769222 24769222 G C rs183868211 NOP9 Nonsynonymous SNV R21P 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 23.8 66771 chr13 110838814 110838814 A G rs61749897 COL4A1 Synonymous SNV P605P 0.043 0.055 0.044 22 51 21 0.056 13 0 0 0 1 Benign 0.866 66772 chr3 172224370 172224370 T C rs375691537 TNFSF10 Nonsynonymous SNV N253S 0 0 0.007 0 0 0 0 2 0 0 0 0 5.336 66773 chr3 172241058 172241058 G C rs373320325 TNFSF10 Synonymous SNV T39T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.493 66774 chr3 124731689 124731689 T A rs78680419 HEG1 Nonsynonymous SNV T912S 0.053 0.039 0.058 24 62 15 0.062 17 0 0 0 0 7.022 66775 chr14 71201206 71201206 G A rs55654012 MAP3K9 Synonymous SNV S360S 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 13.2 66776 chr14 71209279 71209279 C G rs1990032 MAP3K9 Synonymous SNV T146T 0.012 0.003 0.007 5 14 1 0.013 2 0 0 0 0 1.897 66777 chr3 124732419 124732419 - GAGGAGGAGGAGGAAGAG rs376430192 HEG1 S672_G673insSSSSSS 0.055 0.047 0.054 25 64 18 0.064 16 0 0 0 0 66778 chr14 71485741 71485741 G A PCNX1 Synonymous SNV L893L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.509 66779 chr13 111110488 111110488 C A rs551939475 COL4A2-AS2 Nonsynonymous SNV G73V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.283 66780 chr13 52603448 52603448 A G rs73184339 UTP14C Nonsynonymous SNV I170V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 8.424 66781 chr3 124826589 124826589 C T rs773907838 SLC12A8 Nonsynonymous SNV E481K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.77 66782 chr12 70965764 70965764 G A rs1561799 PTPRB Synonymous SNV V674V 0.045 0.065 0.058 24 53 25 0.062 17 1 0 1 0 11.01 66783 chr3 179050859 179050859 C T rs59062224 ZNF639 Synonymous SNV Y84Y 0.009 0.01 0.027 1 10 4 0.003 8 0 0 0 0 0.536 66784 chr3 179052195 179052195 C A rs11919840 ZNF639 Synonymous SNV V481V 0.008 0.01 0.027 1 9 4 0.003 8 0 0 0 0 9.853 66785 chr3 180705871 180705871 C T rs142023670 DNAJC19 Synonymous SNV L23L 0.013 0.016 0.014 5 15 6 0.013 4 0 0 0 1 Benign 13.67 66786 chr13 111279817 111279817 A G rs3742191 NAXD Nonsynonymous SNV K30E 0.033 0.049 0.02 16 39 19 0.041 6 1 1 0 1 6.492 66787 chr14 77951143 77951143 T C rs77534020 ISM2 Synonymous SNV A87A 0.036 0.029 0.034 10 42 11 0.026 10 2 1 0 0 0.302 66788 chr13 112722387 112722387 G A rs139160172 SOX1 Nonsynonymous SNV G139S 0.018 0.01 0.003 2 21 4 0.005 1 0 0 0 0 25.3 66789 chr12 72020120 72020120 T C ZFC3H1 Nonsynonymous SNV K1413E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.9 66790 chr3 125879755 125879755 C T rs143122118 ALDH1L1 Nonsynonymous SNV G33D 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 Benign 30 66791 chr13 113030773 113030773 G A rs80048274 SPACA7 Nonsynonymous SNV R25Q 0.026 0.031 0.017 5 31 12 0.013 5 0 0 0 1 7.181 66792 chr14 79117576 79117576 C A rs145345072 NRXN3 Synonymous SNV G3G 0.015 0.005 0.007 3 18 2 0.008 2 0 0 0 0 Benign 13.03 66793 chr12 72057375 72057375 T C rs368259965 ZFC3H1 Nonsynonymous SNV T6A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.404 66794 chr14 91780398 91780398 C T rs377498688 CCDC88C Nonsynonymous SNV V588M 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 66795 chr3 183818222 183818222 G - rs397897677 HTR3E E22Sfs*39 0.136 0.133 0.129 40 160 51 0.103 38 13 4 2 3 66796 chr3 127323905 127323905 G A rs150457733 MCM2 Synonymous SNV L193L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.501 66797 chr13 78472363 78472363 C T rs201243241 EDNRB Nonsynonymous SNV R434H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 66798 chr3 127642561 127642561 A C rs148151101 KBTBD12 Nonsynonymous SNV Q219H 0.014 0.008 0.007 7 17 3 0.018 2 0 0 0 0 0.08 66799 chr3 127788472 127788472 C T rs11926533 SEC61A1 Synonymous SNV S466S 0.008 0.021 0.02 7 9 8 0.018 6 0 0 0 0 Benign 12.99 66800 chr3 128654164 128654164 T G KIAA1257 0.002 0 0 0 2 0 0 0 0 0 0 0 17.78 66801 chr14 93709433 93709433 C T rs183380362 BTBD7 Nonsynonymous SNV R511Q 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 66802 chr13 19752451 19752451 C T rs145210942 TUBA3C Nonsynonymous SNV A104T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 28.1 66803 chr14 76121282 76121282 C T rs115386117 ERG28 Synonymous SNV T57T 0.01 0.01 0.017 4 12 4 0.01 5 0 0 0 0 17.98 66804 chr13 103710635 103710635 C T rs60380298 SLC10A2 Nonsynonymous SNV V159I 0.023 0.01 0.027 9 27 4 0.023 8 0 0 0 0 1.463 66805 chr3 128758604 128758604 G A rs148837972 EFCC1 Synonymous SNV L570L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.771 66806 chr13 103718471 103718471 G A rs41281680 SLC10A2 Synonymous SNV A43A 0.023 0.01 0.024 8 27 4 0.021 7 0 0 0 0 9.355 66807 chr14 38218986 38218986 A G rs143786564 TTC6 Nonsynonymous SNV D981G 0.019 0.016 0.014 3 22 6 0.008 4 0 0 0 0 22.8 66808 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAAAAA 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 66809 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*73 0 0.003 0 0 0 1 0 0 0 0 0 0 66810 chr3 129233373 129233373 C T rs76881473 IFT122 Synonymous SNV R933R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.18 66811 chr13 110830200 110830200 G C rs146134172 COL4A1 Nonsynonymous SNV P902R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 22.6 66812 chr3 187896912 187896912 G A rs13096262 FLJ42393 0 0 0.473 0 0 0 0 139 0 0 34 0 5.144 66813 chr3 189587170 189587170 C T rs1038188765 TP63 Nonsynonymous SNV P217L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 66814 chr14 93299631 93299631 C T rs371855374 GOLGA5 Synonymous SNV S628S 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 16.34 66815 chr14 105173282 105173282 G A rs184709736 INF2 Synonymous SNV S293S 0.004 0 0.014 5 5 0 0.013 4 0 0 0 0 Benign 10.18 66816 chr3 130104015 130104015 G A rs772701943 COL6A5 Nonsynonymous SNV D557N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 66817 chr14 93708759 93708759 A C rs36099812 BTBD7 Nonsynonymous SNV S736A 0.03 0.031 0.041 13 35 12 0.033 12 0 0 0 0 0.001 66818 chr14 94152959 94152959 C T rs76973270 UNC79 Synonymous SNV N2149N 0.043 0.039 0.027 16 51 15 0.041 8 0 1 0 0 11.85 66819 chr14 94394818 94394818 G T rs139773135 FAM181A Nonsynonymous SNV A63S 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 0.002 66820 chr14 94395061 94395061 A C rs77045100 FAM181A Synonymous SNV R144R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.02 66821 chr14 101349282 101349282 G A rs771052719 RTL1 Nonsynonymous SNV P615L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 22.3 66822 chr3 193272487 193272489 GAG - rs199558140 ATP13A4-AS1 0.041 0.031 0.017 13 48 12 0.033 5 1 0 0 1 66823 chr13 113201832 113201861 CGCGCGTGGGAAAGACGTGCATGGGAAAGT - TUBGCP3 D414_R423del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 66824 chr14 101350721 101350721 T C rs139938584 RTL1 Synonymous SNV Q135Q 0.031 0.018 0.031 17 36 7 0.044 9 1 0 0 0 0.002 66825 chr14 50154896 50154896 C G POLE2 Nonsynonymous SNV R9P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 66826 chr13 113748872 113748872 G A rs12429945 MCF2L Nonsynonymous SNV G962R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 66827 chr3 130287192 130287192 C T rs186411715 COL6A6 Synonymous SNV T715T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 6.093 66828 chr13 113973968 113974006 CACGGTAGGGCTGGGGCCTCACCTGGGAGAGGGGGACGG - rs563136954 LAMP1 N249Kfs*3 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 66829 chr3 194180647 194180647 A G rs192437984 ATP13A3 Synonymous SNV T93T 0.014 0.026 0.02 1 17 10 0.003 6 0 0 0 0 1.389 66830 chr14 95081348 95081348 G A rs757020810 SERPINA3 Synonymous SNV G190G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.529 66831 chr14 95590638 95590638 A G rs763512012 DICER1 Nonsynonymous SNV I424T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.15 66832 chr12 89861464 89861464 T C rs955338768 POC1B 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24.7 66833 chr12 8990937 8990937 C A rs61921916 A2ML1 Nonsynonymous SNV D287E 0.007 0.01 0.007 6 8 4 0.015 2 0 0 0 0 Benign 22.5 66834 chr13 28141925 28141925 - T LNX2 Frameshift insertion I236Nfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 66835 chr14 96731073 96731073 C T rs140613086 BDKRB1 Nonsynonymous SNV R352W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.8 66836 chr14 89307227 89307227 A G rs150880478 TTC8 Nonsynonymous SNV K85R 0.015 0.036 0.007 9 18 14 0.023 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 66837 chr14 99640905 99640905 G A rs74649889 BCL11B Synonymous SNV P684P 0.063 0.083 0.075 17 74 32 0.044 22 5 1 0 1 9.827 66838 chr13 23929842 23929842 T C rs41315020 SACS Synonymous SNV A156A 0.016 0.013 0.031 6 19 5 0.015 9 0 0 0 0 Benign/Likely benign 0.698 66839 chr14 92102881 92102881 T C rs144163747 CATSPERB Nonsynonymous SNV T544A 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 8.62 66840 chr13 31495179 31495179 G A rs11841583 MEDAG Synonymous SNV T139T 0.037 0.031 0.037 31 44 12 0.079 11 2 1 0 0 14.12 66841 chr13 31495733 31495733 C T rs6563571 MEDAG Synonymous SNV P179P 0.037 0.031 0.034 31 44 12 0.079 10 2 1 0 0 6.898 66842 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAA 0.073 0.055 0.031 26 86 21 0.067 9 3 1 2 2 66843 chr14 104643105 104643105 C T rs538974492 KIF26A Nonsynonymous SNV T1327M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.138 66844 chr13 31822099 31822099 C T rs775418673 B3GLCT Nonsynonymous SNV S152F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 66845 chr13 32747569 32747569 C T rs116019557 FRY Synonymous SNV H739H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 15.24 66846 chr13 32747593 32747593 T C rs114461962 FRY Synonymous SNV V747V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.362 66847 chr13 32749763 32749763 G A rs774557776 FRY Synonymous SNV S805S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 66848 chr13 32768315 32768315 A G rs111497306 FRY Synonymous SNV L1209L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.557 66849 chr14 105063338 105063338 G A rs567863114 TMEM179 Synonymous SNV T144T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.59 66850 chr14 93119407 93119407 C T rs3818321 RIN3 Synonymous SNV S596S 0.02 0.018 0.02 0 23 7 0 6 0 1 0 0 11.61 66851 chr3 138191347 138191347 C T rs139504758 ESYT3 Nonsynonymous SNV P628L 0.01 0 0.01 0 12 0 0 3 0 0 0 0 7.296 66852 chr15 101565084 101565084 C T LRRK1 Nonsynonymous SNV T715M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 66853 chr15 101433058 101433058 C A rs760137633 LOC101927751 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.682 66854 chr14 93305716 93305716 G C GOLGA5 Nonsynonymous SNV L707F 0 0.003 0 0 0 1 0 0 0 0 0 0 26 66855 chr14 93398849 93398849 G A rs9658664 CHGA Nonsynonymous SNV G164S 0.017 0.036 0.017 7 20 14 0.018 5 1 0 0 0 17.3 66856 chr13 32907403 32907403 T C rs11571642 BRCA2 Synonymous SNV D596D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.477 66857 chr14 93673229 93673229 C T rs373799613 GON7 Nonsynonymous SNV V52I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.487 66858 chr3 23930680 23930680 T C rs140378760 UBE2E1 Synonymous SNV N105N 0.018 0.016 0.003 4 21 6 0.01 1 0 0 0 0 Benign 5.192 66859 chr3 27216215 27216215 T C rs141326474 NEK10 Nonsynonymous SNV Y184C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.542 66860 chr14 58583166 58583166 G A rs111439524 ARMH4 Nonsynonymous SNV P631S 0.003 0.016 0.01 0 4 6 0 3 0 0 0 0 5.508 66861 chr14 94413738 94413738 C T rs753162231 ASB2 Nonsynonymous SNV G289S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 66862 chr13 26793644 26793644 T C rs3910433 RNF6 Nonsynonymous SNV N48S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.002 66863 chr3 141163045 141163045 T C rs11714558 ZBTB38 Synonymous SNV V605V 0.061 0.052 0.034 21 72 20 0.054 10 2 1 0 0 0.326 66864 chr3 141526640 141526640 G A rs150840377 GRK7 Nonsynonymous SNV D402N 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 28.3 66865 chr15 25963456 25963456 C T rs140056195 ATP10A Nonsynonymous SNV G485D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.19 66866 chr14 21491532 21491532 G A rs117650137 MIR6717 0.062 0.052 0.031 24 73 20 0.062 9 6 2 0 0 10.52 66867 chr14 21502110 21502110 G A rs114504351 RNASE13 Nonsynonymous SNV S113F 0.038 0.039 0.031 12 45 15 0.031 9 0 1 0 0 20.7 66868 chr14 21502431 21502431 G A rs113995906 RNASE13 Nonsynonymous SNV T6I 0.039 0.039 0.034 12 46 15 0.031 10 0 1 0 0 1.392 66869 chr3 148765878 148765878 T C rs760286020 HLTF Nonsynonymous SNV D609G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.4 66870 chr3 33431826 33431826 C T rs41285089 UBP1 Synonymous SNV K504K 0.014 0.016 0.031 5 16 6 0.013 9 1 0 0 0 16.54 66871 chr14 60494679 60494679 C T rs368587449 LRRC9 Stop gain R1261X 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 39 66872 chr3 148901300 148901300 C T rs115552500 CP Nonsynonymous SNV R793H 0.015 0.016 0 2 18 6 0.005 0 1 0 0 0 Benign/Likely benign 17.4 66873 chr3 36780080 36780080 C T rs56070233 DCLK3 Nonsynonymous SNV R24Q 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 23.1 66874 chr15 31210406 31210406 C T rs118060760 FAN1 Synonymous SNV S617S 0.016 0.016 0.003 8 19 6 0.021 1 0 0 0 0 13.34 66875 chr3 38347785 38347785 G A rs147752298 SLC22A14 Nonsynonymous SNV V90M 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 0.003 66876 chr15 31359377 31359377 G A rs201157794 TRPM1 Synonymous SNV H186H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.84 66877 chr15 100252710 100252724 CAGCAGCAGCAGCAG - rs748617871 MEF2A Q348_Q352del 0.029 0.018 0.007 12 34 7 0.031 2 1 0 0 0 66878 chr3 38627386 38627386 A G SCN5A Synonymous SNV F861F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.859 66879 chr15 100252722 100252724 CAG - MEF2A Q352del 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 66880 chr15 31521506 31521506 G - rs34406656 LOC283710 R26Gfs*101 0.149 0.174 0.167 47 175 67 0.121 49 85 33 24 23 66881 chr15 100269365 100269365 T G rs143085338 LYSMD4 Nonsynonymous SNV D224A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.757 66882 chr13 45147516 45147516 C T rs61947992 TSC22D1 Nonsynonymous SNV A899T 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 18.6 66883 chr14 64498016 64498016 G A rs200842904 SYNE2 Nonsynonymous SNV E2388K 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 9.562 66884 chr3 151163623 151163623 G A rs139390686 IGSF10 Synonymous SNV A1382A 0.027 0.034 0.017 5 32 13 0.013 5 0 0 0 0 Benign 8.383 66885 chr13 36158038 36158038 A G rs189755961 NBEA Nonsynonymous SNV I140V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Benign 14.77 66886 chr13 100925464 100925464 C G rs146927771 PCCA Nonsynonymous SNV A284G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 66887 chr3 39184884 39184884 G A rs147162469 CSRNP1 Nonsynonymous SNV L498F 0.009 0.013 0.007 4 11 5 0.01 2 0 0 0 0 Likely benign 0.424 66888 chr15 34646653 34646653 T C NUTM1 Nonsynonymous SNV I351T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.75 66889 chr13 46287386 46287386 G A SPERT Nonsynonymous SNV A49T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.05 66890 chr15 38988925 38988925 G T rs146995135 LINC02694 0.009 0.005 0.003 1 11 2 0.003 1 1 0 0 0 6.945 66891 chr15 38990652 38990652 G A LINC02694 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.284 66892 chr3 39307927 39307927 T C rs139019894 CX3CR1 Nonsynonymous SNV D25G 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Likely benign 16.79 66893 chr3 40085760 40085760 G A rs56248790 MYRIP Nonsynonymous SNV R67Q 0.004 0.005 0.014 5 5 2 0.013 4 0 0 0 0 Benign 10.49 66894 chr3 40223808 40223808 C T rs144807590 MYRIP Nonsynonymous SNV P137L 0.007 0.013 0.01 4 8 5 0.01 3 0 0 0 0 Benign 11.5 66895 chr3 157822902 157822902 C A rs770972796 SHOX2 Synonymous SNV T121T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.322 66896 chr14 65266533 65266533 G A rs141060172 SPTB Synonymous SNV N332N 0.021 0.01 0.003 4 25 4 0.01 1 1 0 0 0 Benign/Likely benign 7.24 66897 chr15 40558623 40558623 G A rs61739745 BUB1B-PAK6, PAK6 Nonsynonymous SNV R262Q 0.017 0.016 0.014 2 20 6 0.005 4 2 0 0 0 23.5 66898 chr13 41767779 41767779 T G rs775120950 KBTBD7 Synonymous SNV R205R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 66899 chr13 41767780 41767780 C T rs748762082 KBTBD7 Nonsynonymous SNV R205Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.571 66900 chr15 24924042 24924042 G A rs150300590 NPAP1 Nonsynonymous SNV G1010R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 17.14 66901 chr15 41099853 41099853 C T rs199645685 ZFYVE19 Synonymous SNV S22S 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 14.34 66902 chr14 23996935 23996935 C T rs58400374 ZFHX2 Nonsynonymous SNV V1005M 0.018 0.018 0.014 4 21 7 0.01 4 1 0 0 0 25.6 66903 chr15 41148988 41148988 G A rs142240169 SPINT1 Nonsynonymous SNV A453T 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 Benign 25.2 66904 chr14 21052414 21052414 T A rs35818240 RNASE11 Nonsynonymous SNV T74S 0.068 0.052 0.068 17 80 20 0.044 20 2 1 1 0 0.002 66905 chr3 168834385 168834385 C T rs35594969 MECOM Synonymous SNV R237R 0.019 0.034 0.024 6 22 13 0.015 7 0 0 0 0 7.066 66906 chr14 21052487 21052487 A G rs35238496 RNASE11 Synonymous SNV I49I 0.068 0.055 0.068 17 80 21 0.044 20 2 1 1 0 1.831 66907 chr15 29397663 29397663 G C rs141259161 APBA2 Nonsynonymous SNV E228Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.6 66908 chr15 41795336 41795336 G A rs137962153 ITPKA Nonsynonymous SNV G453D 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 8.612 66909 chr3 169831264 169831264 C T rs563159292 PHC3 Nonsynonymous SNV R734Q 0.004 0 0 0 5 0 0 0 0 0 0 0 26.6 66910 chr15 29416890 29416890 C G rs61736885 FAM189A1 Nonsynonymous SNV A435P 0.023 0.034 0.01 12 27 13 0.031 3 1 0 0 1 13.93 66911 chr14 72055378 72055378 C T rs34631533 SIPA1L1 Synonymous SNV D263D 0.029 0.031 0.048 8 34 12 0.021 14 0 2 0 0 1.393 66912 chr14 73198629 73198629 G C rs35206255 DPF3 Synonymous SNV P105P 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 1.638 66913 chr3 171571439 171571439 G A rs749662386 TMEM212 Synonymous SNV G114G 0.004 0 0 0 5 0 0 0 0 0 0 0 9.447 66914 chr13 110959356 110959356 C G rs9515185 COL4A1 Nonsynonymous SNV V7L 0.099 0.083 0.065 47 116 32 0.121 19 52 14 9 20 Benign 6.307 66915 chr14 24901775 24901775 C T rs145627124 KHNYN Synonymous SNV D477D 0.022 0.021 0.017 5 26 8 0.013 5 1 0 0 0 13.47 66916 chr15 33359950 33359950 C G rs141655944 FMN1 Nonsynonymous SNV E46Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 19.04 66917 chr15 41862801 41862801 G T rs200684350 TYRO3 0.001 0 0 0 1 0 0 0 0 0 0 0 26 66918 chr14 21769193 21769193 C A rs1040904 RPGRIP1 Nonsynonymous SNV P96Q 0.043 0.036 0.058 24 50 14 0.062 17 1 0 1 1 Benign/Likely benign 0.054 66919 chr13 50283795 50283795 G A rs61749883 KPNA3 Synonymous SNV T315T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.64 66920 chr13 51921310 51921310 T C rs369860176 SERPINE3 Nonsynonymous SNV C214R 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 5.391 66921 chr14 30396622 30396622 - CCCGGA rs45471692 PRKD1 G32_P33insSG 0.061 0.063 0.054 24 72 24 0.062 16 1 1 0 3 66922 chr15 42137104 42137104 A C JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV T359P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.3 66923 chr14 21899549 21899549 G A rs886043611 CHD8 Nonsynonymous SNV P85L 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 Uncertain significance 15.02 66924 chr15 34649658 34649658 C T rs144051027 NUTM1 Nonsynonymous SNV T1140M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 66925 chr15 42536333 42536333 A G TMEM87A Synonymous SNV D118D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.004 66926 chr15 40094367 40094367 C T GPR176 Nonsynonymous SNV V127M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 66927 chr14 75513448 75513448 C T rs41555714 MLH3 Nonsynonymous SNV V971I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.51 66928 chr3 46783629 46783629 A G rs59828146 PRSS45P 0 0 0.136 0 0 0 0 40 0 0 3 0 2.142 66929 chr3 46783637 46783637 T C rs59721087 PRSS45P 0 0 0.136 0 0 0 0 40 0 0 3 0 0.421 66930 chr3 46852679 46852679 A G rs7647507 PRSS44P 0 0 0.112 0 0 0 0 33 0 0 2 0 10.2 66931 chr14 76045388 76045405 CCCAGCGTCTCGGTCCAT - rs548569935 FLVCR2 V35_S40del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 66932 chr14 38060768 38060768 G A rs35342092 FOXA1 Synonymous SNV S407S 0.01 0.003 0.01 2 12 1 0.005 3 1 0 0 0 Benign 5.556 66933 chr13 84453768 84453768 C T rs758448851 SLITRK1 Synonymous SNV L625L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 17.63 66934 chr3 47618861 47618861 C G rs373659374 CSPG5 Nonsynonymous SNV E81Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 19.55 66935 chr3 184043485 184043485 T G SNORD66 0.003 0 0 0 3 0 0 0 0 0 0 0 13.17 66936 chr14 77718222 77718222 G A rs778233191 TMEM63C Nonsynonymous SNV R710Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 66937 chr13 24242166 24242166 C T rs35041805 TNFRSF19 Nonsynonymous SNV P130S 0.014 0.005 0.031 8 17 2 0.021 9 0 0 0 0 0.001 66938 chr14 44975918 44975918 G A rs45586531 FSCB Synonymous SNV T91T 0.032 0.01 0.007 8 37 4 0.021 2 0 0 0 0 Benign 5.106 66939 chr14 45606290 45606290 C T rs77374493 FANCM Nonsynonymous SNV T176I 0.007 0 0.007 1 8 0 0.003 2 0 0 0 0 Benign 17.32 66940 chr13 96377442 96377442 A G rs200889479 DNAJC3 Nonsynonymous SNV Q110R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 66941 chr15 44165012 44165012 - TATT rs112441486 FRMD5 Stop gain R478Kfs*2 0.138 0.133 0 52 162 51 0.133 0 8 3 0 3 66942 chr3 184911202 184911202 C T rs372621913 EHHADH Synonymous SNV S232S 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 12.66 66943 chr14 50100462 50100462 C T rs150737854 DNAAF2 Nonsynonymous SNV C469Y 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 Benign/Likely benign 0.003 66944 chr13 98658431 98658431 C T rs962712040 IPO5 Synonymous SNV S515S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14.15 66945 chr3 185997730 185997730 G A rs202148280 DGKG Synonymous SNV Y234Y 0.003 0 0 0 4 0 0 0 0 0 0 0 4.975 66946 chr15 43820717 43820717 C T rs55707100 MAP1A Nonsynonymous SNV P2349L 0.068 0.057 0.065 18 80 22 0.046 19 1 1 0 1 23.4 66947 chr14 24534471 24534471 C T rs116307579 CARMIL3 Nonsynonymous SNV R1129C 0.016 0.021 0.007 10 19 8 0.026 2 0 0 0 0 23.4 66948 chr13 99630071 99630071 G A rs190991512 DOCK9 Synonymous SNV G31G 0.009 0 0 2 11 0 0.005 0 0 0 0 0 Likely benign 2.959 66949 chr14 103570619 103570619 T A rs764316972 EXOC3L4 Nonsynonymous SNV C393S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.5 66950 chr3 186362643 186362643 G A rs78581831 FETUB Synonymous SNV A111A 0.015 0.021 0.017 6 18 8 0.015 5 1 0 1 0 12.96 66951 chr15 44581461 44581461 G A rs148489550 CASC4 Synonymous SNV K78K 0.041 0.039 0.058 13 48 15 0.033 17 1 0 0 0 10.39 66952 chr13 26273431 26273431 C T rs150714658 ATP8A2 Nonsynonymous SNV R738W 0.006 0 0 4 7 0 0.01 0 0 0 0 0 34 66953 chr15 41866015 41866015 - ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG TYRO3 0.026 0.034 0.02 8 30 13 0.021 6 0 0 0 0 66954 chr13 28155826 28155826 A T LNX2 Nonsynonymous SNV S5R 0.005 0 0 4 6 0 0.01 0 0 0 0 0 7.58 66955 chr3 49570580 49570580 G A rs375194967 DAG1 Nonsynonymous SNV R879H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.2 66956 chr14 102452098 102452098 T G rs765277712 DYNC1H1 Nonsynonymous SNV F512L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.229 66957 chr14 104633244 104633244 G A rs376180886 KIF26A Synonymous SNV P324P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.709 66958 chr3 186940954 186940954 C - rs533160857 MASP1 K591Sfs*11 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 66959 chr14 90420288 90420288 T C rs34911716 EFCAB11 Nonsynonymous SNV T45A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.83 66960 chr15 42143977 42143977 C T rs543441525 SPTBN5 Synonymous SNV Q3552Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.046 66961 chr14 90429858 90429858 G A rs28365054 TDP1 Nonsynonymous SNV A134T 0.01 0.016 0.017 8 12 6 0.021 5 0 0 0 0 Benign 0.017 66962 chr14 104646027 104646027 G A rs202007201 KIF26A Nonsynonymous SNV C1850Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.3 66963 chr14 90451500 90451500 A G rs17126522 TDP1 Synonymous SNV P359P 0.004 0.008 0.017 2 5 3 0.005 5 0 0 0 0 Likely benign 0.276 66964 chr14 51489592 51489592 C A rs111730710 TRIM9 Synonymous SNV L334L 0.008 0.003 0.014 0 9 1 0 4 0 0 0 0 17.18 66965 chr14 24806366 24806366 T A rs201121076 RIPK3 Nonsynonymous SNV T401S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 66966 chr14 102675036 102675036 T C rs768503139 WDR20 Nonsynonymous SNV Y116H 0.004 0 0 0 5 0 0 0 0 0 0 0 25 66967 chr14 91084344 91084344 C T rs2296397 TTC7B Synonymous SNV P599P 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 7.58 66968 chr13 30784566 30784566 A G rs11617724 KATNAL1 Synonymous SNV A387A 0.032 0.026 0.051 18 37 10 0.046 15 1 0 0 0 8.47 66969 chr14 102901204 102901204 C G rs45467297 TECPR2 Nonsynonymous SNV L684V 0.016 0.01 0.024 6 19 4 0.015 7 0 0 0 0 Benign 0.064 66970 chr14 91681891 91681891 G T rs756064073 DGLUCY Synonymous SNV S569S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.892 66971 chr14 91773524 91773524 T C CCDC88C Nonsynonymous SNV Q1018R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 66972 chr15 45779755 45779755 T C SLC30A4 Nonsynonymous SNV I324V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.65 66973 chr14 103570354 103570354 G T rs117708804 EXOC3L4 Nonsynonymous SNV A376S 0.008 0.013 0.02 5 9 5 0.013 6 1 0 0 0 18.79 66974 chr14 53177857 53177857 T C rs145411984 PSMC6 Synonymous SNV A99A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.748 66975 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAA 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 66976 chr3 50375066 50375066 C T rs79536844 RASSF1-AS1 0 0 0.058 0 0 0 0 17 0 0 1 0 10.42 66977 chr15 42456633 42456633 C T rs753606380 VPS39 Nonsynonymous SNV R650Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 66978 chr3 192980784 192980784 C T rs35525262 PLAAT1 Synonymous SNV S55S 0.007 0.008 0.007 6 8 3 0.015 2 0 0 0 0 11.23 66979 chr14 31109031 31109031 G A rs372172476 SCFD1 Nonsynonymous SNV V70I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.71 66980 chr14 55611839 55611839 A T rs11125 LGALS3 Nonsynonymous SNV Q201H 0.068 0.078 0.075 22 80 30 0.056 22 2 0 0 0 23.4 66981 chr3 193171981 193171981 C G ATP13A4 Nonsynonymous SNV E646Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 66982 chr14 55818403 55818403 T C rs35070799 FBXO34 Nonsynonymous SNV V432A 0.07 0.076 0.075 27 82 29 0.069 22 2 0 1 0 0.007 66983 chr15 42740370 42740370 G A rs140464950 ZNF106 Nonsynonymous SNV A174V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.1 66984 chr14 104559833 104559833 C A rs61745802 ASPG Nonsynonymous SNV A66D 0.03 0.021 0.027 4 35 8 0.01 8 2 0 0 0 19.6 66985 chr15 42979105 42979105 A G rs28680600 STARD9 Nonsynonymous SNV R1777G 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 18.49 66986 chr15 42980390 42980390 C T rs16957055 STARD9 Nonsynonymous SNV A2205V 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 9.51 66987 chr14 104561879 104561879 G A rs369466318 ASPG Synonymous SNV E105E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.831 66988 chr15 42982819 42982819 A G rs3742995 STARD9 Nonsynonymous SNV R3015G 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 11.74 66989 chr14 105964224 105964224 C T rs782626415 TEDC1 Synonymous SNV G254G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.38 66990 chr15 42983943 42983943 C G rs3742992 STARD9 Synonymous SNV R3389R 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 7.343 66991 chr15 42984182 42984182 A G rs16957061 STARD9 Nonsynonymous SNV Y3469C 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 0.276 66992 chr15 42984288 42984288 A G rs16957063 STARD9 Synonymous SNV T3504T 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 0.008 66993 chr13 38211105 38211105 T C rs73184536 TRPC4 Nonsynonymous SNV I784V 0.056 0.073 0.092 38 66 28 0.097 27 1 1 0 3 0.002 66994 chr15 42984858 42984858 G T rs58237318 STARD9 Synonymous SNV L3694L 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 9.46 66995 chr14 94756823 94756823 G A rs45516698 SERPINA10 Synonymous SNV N36N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 1.393 66996 chr13 39263422 39263422 C T rs41292751 FREM2 Synonymous SNV D647D 0.021 0.026 0.02 6 25 10 0.015 6 1 0 0 0 Benign 2.603 66997 chr15 43028511 43028511 G C rs12594325 CDAN1 Synonymous SNV P186P 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 Benign/Likely benign 9.633 66998 chr15 43028626 43028626 G A rs73410959 CDAN1 Nonsynonymous SNV A148V 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 Benign 8.447 66999 chr13 39265558 39265558 T A rs41292757 FREM2 Synonymous SNV G1359G 0.021 0.026 0.02 6 25 10 0.015 6 1 0 0 0 Benign 0.343 67000 chr14 38218530 38218530 C T rs144956186 TTC6 Nonsynonymous SNV A933V 0.008 0 0 1 9 0 0.003 0 0 0 0 0 24.8 67001 chr14 38295385 38295405 GGAAAATTATTTTAGGCCCAA - rs555569720 TTC6 A293_Q294del 0.014 0.005 0 6 16 2 0.015 0 0 0 0 0 67002 chr15 43820423 43820423 C T rs28438815 MAP1A Nonsynonymous SNV A2251V 0.043 0.047 0.034 16 51 18 0.041 10 0 0 0 2 26.4 67003 chr14 95080999 95081001 TCT - rs748990999 SERPINA3 F75del 0 0.003 0 0 0 1 0 0 0 0 0 0 67004 chr3 196050862 196050862 A G rs36016914 TM4SF19 Nonsynonymous SNV I151T 0.011 0.013 0.014 3 13 5 0.008 4 0 0 0 0 5.144 67005 chr14 105944801 105944801 G A CRIP2 Synonymous SNV P125P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 67006 chr15 63852160 63852160 A G rs371388276 USP3 Nonsynonymous SNV D169G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 67007 chr14 45711638 45711638 T C rs146886516 MIS18BP1 Nonsynonymous SNV K248E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.48 67008 chr14 64194336 64194336 G A rs150004807 SGPP1 Synonymous SNV R109R 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 11.37 67009 chr14 50750629 50750629 A G rs201951588 L2HGDH Synonymous SNV G221G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 3.936 67010 chr15 64496654 64496654 C T rs55699712 CSNK1G1 Nonsynonymous SNV V329I 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 22.3 67011 chr13 46124056 46124056 T C rs138019495 ERICH6B Nonsynonymous SNV T540A 0.012 0.005 0.007 5 14 2 0.013 2 0 0 0 0 23.6 67012 chr3 66434668 66434668 G A rs34993786 LRIG1 Synonymous SNV H606H 0.033 0.034 0.031 18 39 13 0.046 9 0 0 0 0 0.522 67013 chr13 46154749 46154749 A G rs11618506 ERICH6B Nonsynonymous SNV L303P 0.039 0.029 0.058 19 46 11 0.049 17 2 0 0 1 0.664 67014 chr13 46170621 46170621 A T rs17066954 ERICH6B Nonsynonymous SNV S174T 0.056 0.052 0.048 27 66 20 0.069 14 2 0 0 1 0.001 67015 chr15 65157874 65157874 G A rs141176661 PLEKHO2 Synonymous SNV S370S 0 0.008 0 3 0 3 0.008 0 0 0 0 0 14.48 67016 chr15 100273604 100273604 C T rs183900604 LYSMD4 Synonymous SNV A15A 0.002 0.01 0.007 2 2 4 0.005 2 0 0 0 0 10.39 67017 chr15 100514610 100514610 C T rs144817994 ADAMTS17 Synonymous SNV S1095S 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.19 67018 chr14 64867522 64867522 C T rs151019303 MTHFD1 Nonsynonymous SNV A18V 0.009 0.021 0.003 11 10 8 0.028 1 0 0 0 0 Likely benign 15.69 67019 chr3 73673263 73673263 G T PDZRN3 Synonymous SNV P238P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 67020 chr14 51371081 51371081 A C rs17123116 ABHD12B Synonymous SNV S285S 0.012 0.01 0.02 4 14 4 0.01 6 0 0 0 0 9.981 67021 chr14 51372238 51372238 T A rs34313873 PYGL Nonsynonymous SNV I772L 0.012 0.01 0.02 4 14 4 0.01 6 0 0 0 0 Benign 24.8 67022 chr3 8787330 8787330 C T rs72546668 CAV3 Nonsynonymous SNV T78M 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 67023 chr14 20859250 20859250 C T rs143456437 TEP1 Synonymous SNV P593P 0.006 0 0 7 7 0 0.018 0 0 0 0 0 7.508 67024 chr13 49748648 49748648 A C rs138243997 FNDC3A Synonymous SNV A380A 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 6.541 67025 chr14 51411029 51411029 A G rs17123244 PYGL Synonymous SNV S31S 0.029 0.026 0.037 12 34 10 0.031 11 1 0 0 1 Benign 11.71 67026 chr3 96963004 96963004 C T rs9835140 EPHA6 Synonymous SNV S493S 0.018 0.029 0.031 4 21 11 0.01 9 1 0 0 1 14.25 67027 chr3 97194230 97194230 C T rs55642719 EPHA6 Synonymous SNV L35L 0.003 0.013 0.01 1 3 5 0.003 3 0 0 0 0 16.69 67028 chr15 66821230 66821230 A G rs138838416 ZWILCH Nonsynonymous SNV K223R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 14.17 67029 chr13 52971530 52971530 G A rs17610037 THSD1 Synonymous SNV T286T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.026 67030 chr15 23890816 23890816 C T rs200926181 MAGEL2 Nonsynonymous SNV V692I 0.012 0.013 0.003 6 14 5 0.015 1 0 0 0 0 Benign/Likely benign 5.951 67031 chr15 23891505 23891525 GGGGCCTGGCGGATCACGGGT - rs794726941 MAGEL2 P456_P462del 0.012 0.013 0 6 14 5 0.015 0 0 0 0 0 67032 chr15 25924583 25924583 G A rs147041252 ATP10A Nonsynonymous SNV R1469C 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 14.94 67033 chr14 56084714 56084714 A G rs137964512 KTN1 Nonsynonymous SNV T232A 0.01 0.005 0.007 9 12 2 0.023 2 1 0 0 0 Likely benign 0.002 67034 chr13 67801721 67801721 A G rs34881109 PCDH9 Synonymous SNV N284N 0.026 0.016 0.027 8 30 6 0.021 8 0 0 0 0 0.03 67035 chr4 2901099 2901099 G A rs372679891 ADD1 Synonymous SNV S366S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 67036 chr14 21790154 21790154 C T rs147586703 RPGRIP1 Nonsynonymous SNV P585S 0.007 0 0 0 8 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 67037 chr15 27777751 27777751 T C rs16950126 GABRG3 Synonymous SNV Y376Y 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.018 67038 chr14 23731886 23731886 T G RNF212B Synonymous SNV P149P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.934 67039 chr15 72455804 72455804 G A rs377736381 GRAMD2A Synonymous SNV A253A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.732 67040 chr3 9991041 9991041 G A rs116497247 PRRT3 Synonymous SNV G253G 0.011 0.023 0.017 5 13 9 0.013 5 0 0 0 0 0.197 67041 chr14 58955530 58955530 T C rs190271845 KIAA0586 Nonsynonymous SNV L1100S 0.02 0.01 0.051 3 23 4 0.008 15 0 0 0 0 Benign 11.17 67042 chr14 73718784 73718784 G A rs756458214 PAPLN Nonsynonymous SNV R301H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.012 67043 chr15 66021961 66021961 G A rs149121039 DENND4A Synonymous SNV L408L 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 8.312 67044 chr14 74060487 74060487 G C rs45522539 ACOT4 Nonsynonymous SNV G180A 0.026 0.016 0.017 10 30 6 0.026 5 0 0 0 0 23.2 67045 chr14 23869955 23869955 A G rs774807696 MYH6 Nonsynonymous SNV I458T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 27 67046 chr13 77834681 77834681 A G rs35967770 MYCBP2 Synonymous SNV I633I 0 0 0 2 0 0 0.005 0 0 0 0 0 10.91 67047 chr13 78171705 78171705 A G rs36065524 SCEL Nonsynonymous SNV M238V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 67048 chr4 3449915 3449915 A G rs114303452 HGFAC Nonsynonymous SNV K566R 0.015 0.013 0.024 3 18 5 0.008 7 0 1 0 0 17.86 67049 chr14 24002655 24002655 C A ZFHX2 Nonsynonymous SNV S627I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.02 67050 chr4 3768799 3768799 G A ADRA2C Nonsynonymous SNV A156T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 67051 chr14 23103329 23103329 G A rs141476218 OR6J1 Nonsynonymous SNV R130W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.64 67052 chr15 63102176 63102176 G A rs75413920 TLN2 Nonsynonymous SNV R2239H 0.012 0.016 0.017 7 14 6 0.018 5 0 0 0 0 22.8 67053 chr15 75145784 75145784 G A rs745628634 SCAMP2 Synonymous SNV S93S 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 12.98 67054 chr4 102251501 102251501 T C rs28664200 MIR1255A 0 0 0.156 0 0 0 0 46 0 0 5 0 0.581 67055 chr4 102951333 102951333 G A rs76745970 BANK1 Nonsynonymous SNV R471Q 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 24.3 67056 chr14 24709952 24709952 G T rs142777869 TINF2 Nonsynonymous SNV S210Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 22.7 67057 chr15 34520687 34520687 T C rs116858574 EMC4 Nonsynonymous SNV I57T 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 23 67058 chr15 76452476 76452476 C G rs149378942 TMEM266 Nonsynonymous SNV I141M 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 24 67059 chr14 24769850 24769852 GAG - NOP9 E169del 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 67060 chr14 24769852 24769852 - GAGGAG NOP9 E169_D170insEE 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 67061 chr14 23444301 23444301 T C rs141770329 AJUBA Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 67062 chr14 24897577 24897577 G A CBLN3 Nonsynonymous SNV A112V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 67063 chr4 1050653 1050653 G A rs3816474 RNF212 Nonsynonymous SNV P263S 0 0 0.724 0 0 0 0 213 0 0 83 0 1.164 67064 chr4 106157698 106157698 T C rs144386291 TET2 Nonsynonymous SNV Y867H 0.023 0.008 0.02 5 27 3 0.013 6 0 0 0 0 Benign 25.8 67065 chr4 106196834 106196834 C T rs146348065 TET2 Nonsynonymous SNV P1723S 0.022 0.008 0.02 4 26 3 0.01 6 0 0 0 0 Benign 3.37 67066 chr4 106359158 106359158 C T rs139651138 PPA2 Synonymous SNV T159T 0.02 0.005 0.014 5 23 2 0.013 4 0 0 0 0 16.59 67067 chr14 100364624 100364624 A G rs151228442 EML1 Synonymous SNV T294T 0.003 0 0.003 5 3 0 0.013 1 0 0 0 0 9.191 67068 chr4 5975456 5975456 G A rs773393315 C4orf50 Nonsynonymous SNV A1166V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.506 67069 chr14 75746731 75746731 T C rs200018787 FOS Nonsynonymous SNV V98A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.617 67070 chr4 107157623 107157623 G A rs34307452 TBCK Nonsynonymous SNV T362M 0.018 0.008 0.027 10 21 3 0.026 8 0 0 0 1 22.1 67071 chr15 73735679 73735679 A C rs1016959027 REC114 Synonymous SNV T51T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.02 67072 chr4 109477779 109477779 G T rs7686569 RPL34-AS1 0 0 0.415 0 0 0 0 122 0 0 45 0 0.494 67073 chr14 64911416 64911416 T C MTHFD1 Synonymous SNV T714T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.788 67074 chr4 110615762 110615762 G A CASP6 Synonymous SNV I45I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 67075 chr15 79748603 79748603 C T rs7183867 MINAR1 Synonymous SNV F38F 0.064 0.083 0.085 16 75 32 0.041 25 0 1 1 1 15.56 67076 chr15 79749447 79749447 G T rs11634652 MINAR1 Nonsynonymous SNV V320F 0.06 0.073 0.082 16 70 28 0.041 24 0 1 1 1 13.99 67077 chr15 40824574 40824574 A G rs56046472 MRPL42P5 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 5.964 67078 chr15 79750156 79750156 G A rs147754107 MINAR1 Nonsynonymous SNV C556Y 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 17.44 67079 chr14 67746055 67746055 G A rs148122965 MPP5 Synonymous SNV L22L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.169 67080 chr14 33069931 33069931 C A rs147851691 AKAP6 Nonsynonymous SNV T888N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.23 67081 chr4 113568359 113568359 G C rs141178932 LARP7 Nonsynonymous SNV E217D 0.009 0.013 0.01 1 11 5 0.003 3 0 0 0 0 Benign 13.63 67082 chr15 68119700 68119711 GCCGTGGCGGCA - rs760140826 SKOR1 V517_A520del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 67083 chr14 24507116 24507116 G A rs55933233 DHRS4L1 Nonsynonymous SNV R16Q 0.021 0.023 0.027 15 25 9 0.038 8 0 0 0 1 12.25 67084 chr14 24523941 24523941 C T rs769060879 CARMIL3 Synonymous SNV N128N 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 15.16 67085 chr14 103059299 103059299 - CCG rs777590116 RCOR1 A30_S31insA 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 67086 chr14 103187355 103187355 T C rs201688800 RCOR1 Synonymous SNV I355I 0.01 0 0 3 12 0 0.008 0 0 0 0 0 10.28 67087 chr14 68272021 68272021 C A rs35512910 ZFYVE26 Nonsynonymous SNV G395V 0.014 0.005 0.003 5 16 2 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.21 67088 chr15 81572006 81572006 C T rs1021693022 IL16 Synonymous SNV S324S 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 14.5 67089 chr4 118006307 118006307 G A rs17049006 TRAM1L1 Synonymous SNV A81A 0.022 0.016 0.034 7 26 6 0.018 10 1 0 0 0 11.36 67090 chr15 68628045 68628045 C T rs201855561 ITGA11 Nonsynonymous SNV R472Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 21 67091 chr15 41796373 41796373 C T rs367898414 LTK Nonsynonymous SNV G676R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 7.554 67092 chr14 36003618 36003618 C T rs144835486 INSM2 Nonsynonymous SNV P54S 0.007 0.013 0.007 2 8 5 0.005 2 0 0 0 0 0.143 67093 chr14 24675243 24675243 G A rs756478429 TSSK4 Synonymous SNV S38S 0.003 0 0 0 3 0 0 0 0 0 0 0 4.651 67094 chr14 70039662 70039662 T A rs554873304 CCDC177 Synonymous SNV T226T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 5.146 67095 chr14 70039807 70039809 GCG - CCDC177 A180del 0.007 0 0 4 8 0 0.01 0 0 0 0 0 67096 chr14 104205123 104205123 G A rs17292804 PPP1R13B Synonymous SNV D919D 0.066 0.086 0.044 24 78 33 0.062 13 2 2 0 0 10.15 67097 chr15 69706874 69706874 - GGGGGCAGGCGTCTCCACTCA rs3830440 LOC145694 0.005 0.008 0.01 3 6 3 0.008 3 0 1 0 1 67098 chr14 71575591 71575591 C T rs751576016 PCNX1 Nonsynonymous SNV P2080L 0.004 0 0 0 5 0 0 0 0 0 0 0 26.1 67099 chr14 73013987 73013987 G A RGS6 Nonsynonymous SNV E566K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.837 67100 chr4 122831394 122831394 C T rs34507256 TRPC3 Synonymous SNV K496K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 15.33 67101 chr15 70991941 70991941 T C rs139520381 UACA Nonsynonymous SNV D33G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 67102 chr14 24884013 24884013 G T rs763821704 NYNRIN Nonsynonymous SNV D1020Y 0.003 0 0 0 3 0 0 0 0 0 0 0 6.739 67103 chr15 79282565 79282565 G A RASGRF1 Nonsynonymous SNV P293L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 67104 chr15 80191338 80191338 A G rs139874813 ST20 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 67105 chr15 42185011 42185011 G A rs546139574 LOC105370792 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.837 67106 chr15 73575350 73575350 A G NEO1 Nonsynonymous SNV N1092S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.298 67107 chr4 13617012 13617012 C T rs56295497 BOD1L1 Synonymous SNV T161T 0.011 0.016 0.003 8 13 6 0.021 1 0 0 0 0 15.51 67108 chr14 74970193 74970193 T C rs137854864 LTBP2 Nonsynonymous SNV M1567V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 0.046 67109 chr14 74971852 74971852 C T rs150977380 LTBP2 Synonymous SNV T1401T 0.015 0.018 0.014 5 18 7 0.013 4 1 1 0 0 Conflicting interpretations of pathogenicity 12.01 67110 chr15 42986835 42986835 A G STARD9 Nonsynonymous SNV K4292E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.37 67111 chr15 43038310 43038310 G A rs576737530 TTBK2 Nonsynonymous SNV P1140S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 24.7 67112 chr15 43452959 43452959 A G rs575058737 TMEM62 Synonymous SNV A216A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.67 67113 chr15 43572136 43572136 C T TGM7 Synonymous SNV E455E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.95 67114 chr14 105420134 105420134 C T rs45448397 AHNAK2 Nonsynonymous SNV D452N 0.038 0.052 0.017 13 45 20 0.033 5 0 0 0 0 1.498 67115 chr15 43819131 43819131 C T rs536586921 MAP1A Synonymous SNV I1820I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.803 67116 chr15 44087680 44087680 G C SERINC4 Nonsynonymous SNV Q173E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.082 67117 chr14 75385260 75385260 C A RPS6KL1 Nonsynonymous SNV V147L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 67118 chr14 105518336 105518336 G T rs3803322 GPR132 Synonymous SNV V37V 0.077 0.068 0.065 30 90 26 0.077 19 8 0 2 3 0.361 67119 chr4 1348920 1348920 G A rs116741007 UVSSA Nonsynonymous SNV G355R 0.007 0.005 0.014 4 8 2 0.01 4 0 0 0 0 Likely benign 24 67120 chr14 50799045 50799045 T C rs61746924 CDKL1 Nonsynonymous SNV N302D 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 11.4 67121 chr14 33291012 33291012 A G rs375633052 AKAP6 Synonymous SNV S1331S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.228 67122 chr14 105954815 105954815 G A rs138781112 CRIP1 Synonymous SNV G67G 0.005 0.003 0 6 6 1 0.015 0 0 0 0 1 10.91 67123 chr14 94048678 94048678 G A rs375980569 UNC79 Nonsynonymous SNV V931M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.609 67124 chr14 105964294 105964294 C T rs200143862 TEDC1 Nonsynonymous SNV R278W 0 0.005 0 3 0 2 0.008 0 0 0 0 0 27.6 67125 chr14 105996049 105996049 - GCC rs587712760 TMEM121 P299_L300insP 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 67126 chr15 76467799 76467799 C T rs77031154 LOC101929439 0.021 0.029 0.02 4 25 11 0.01 6 0 1 0 0 6.57 67127 chr15 89390513 89390513 C T rs117116488 ACAN Nonsynonymous SNV S490L 0.018 0.021 0.014 4 21 8 0.01 4 0 0 0 0 26.5 67128 chr4 140450204 140450204 G A rs35062373 SETD7 Synonymous SNV H181H 0.057 0.06 0.037 23 67 23 0.059 11 1 2 0 1 8.492 67129 chr15 76578762 76578762 G A rs1801591 ETFA Nonsynonymous SNV T122I 0.074 0.078 0.068 18 87 30 0.046 20 3 1 0 0 Benign/Likely benign 30 67130 chr4 25153596 25153596 G A rs757116718 SEPSECS Nonsynonymous SNV H264Y 0.003 0 0 0 3 0 0 0 0 0 0 0 30 67131 chr15 48444430 48444430 C A rs117103804 MYEF2 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 26.6 67132 chr14 76928910 76928910 G A rs778645048 ESRRB Synonymous SNV P140P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Likely benign 14.89 67133 chr14 77242490 77242490 C T rs74421450 VASH1 Synonymous SNV S262S 0.009 0.003 0.014 4 10 1 0.01 4 0 0 0 0 16.59 67134 chr4 27019359 27019359 T C rs113180595 STIM2 Synonymous SNV L506L 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 2.863 67135 chr15 48720652 48720652 C T rs363830 FBN1 Synonymous SNV Q2296Q 0.014 0.021 0.01 4 17 8 0.01 3 0 0 0 0 Benign 14.49 67136 chr15 48722884 48722884 A G rs363836 FBN1 Synonymous SNV D2285D 0.015 0.018 0.01 4 18 7 0.01 3 0 0 0 0 Benign 0.292 67137 chr4 36285777 36285777 G A rs16992035 DTHD1 Nonsynonymous SNV G151R 0.017 0.01 0.01 6 20 4 0.015 3 0 0 0 0 4.937 67138 chr15 86122909 86122909 C T rs115385197 AKAP13 Nonsynonymous SNV A537V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.587 67139 chr4 147560458 147560466 GGCGGCGGC - rs763100230 POU4F2 G66_G68del 0.082 0.107 0.017 25 96 41 0.064 5 2 1 1 0 67140 chr4 36345213 36345213 C T rs376760844 DTHD1 Nonsynonymous SNV R540C 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 22.7 67141 chr14 94936062 94936062 G A rs45438596 SERPINA9 Nonsynonymous SNV T39I 0.022 0.029 0.024 7 26 11 0.018 7 0 0 0 0 12.08 67142 chr4 37592595 37592595 A C C4orf19 Synonymous SNV A306A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.573 67143 chr4 37962278 37962278 G A PTTG2 Nonsynonymous SNV V75I 0.003 0 0 0 3 0 0 0 0 0 0 0 2.469 67144 chr4 151789381 151789381 A G rs139428189 LRBA Synonymous SNV F842F 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 Benign/Likely benign 0.83 67145 chr4 151829824 151829824 T C rs1201208 LRBA Synonymous SNV A449A 0.055 0.047 0.061 16 65 18 0.041 18 1 0 0 0 2.04 67146 chr14 50249602 50249602 C T rs148198716 KLHDC2 Synonymous SNV N384N 0.003 0 0 0 4 0 0 0 0 0 0 0 10.18 67147 chr14 50907128 50907128 A G rs17718015 MAP4K5 Synonymous SNV G532G 0.01 0.013 0.014 5 12 5 0.013 4 0 0 0 0 1.99 67148 chr4 154702738 154702738 G A SFRP2 Synonymous SNV N251N 0 0 0.01 0 0 0 0 3 0 0 0 0 7.718 67149 chr15 81230310 81230310 G A rs151273972 CEMIP Nonsynonymous SNV E1133K 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 26 67150 chr14 51223460 51223460 T A rs41299193 NIN Nonsynonymous SNV I1430L 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Likely benign 0.001 67151 chr15 55652089 55652089 C G rs199694170 CCPG1 Nonsynonymous SNV A628P 0.006 0.008 0.003 5 7 3 0.013 1 0 0 0 0 23.4 67152 chr15 89399936 89399936 G A rs201302102 ACAN Nonsynonymous SNV G1374R 0.009 0.026 0 1 11 10 0.003 0 4 4 0 0 20.9 67153 chr4 40832559 40832559 C T rs779567898 APBB2 Nonsynonymous SNV R500K 0.003 0 0 0 4 0 0 0 0 0 0 0 23.4 67154 chr14 20978816 20978816 C A rs373458337 RNASE10 Synonymous SNV T62T 0 0 0 2 0 0 0.005 0 0 0 0 0 8.492 67155 chr15 89828441 89828441 C T rs117125761 FANCI Nonsynonymous SNV L605F 0.003 0.01 0.007 0 3 4 0 2 0 0 0 0 Benign/Likely benign 26.3 67156 chr15 100657191 100657191 C T rs143697757 ADAMTS17 Synonymous SNV P583P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.85 67157 chr15 81637167 81637167 G T rs77308390 TMC3 Nonsynonymous SNV N486K 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 23.9 67158 chr15 89865073 89865073 T C rs41549716 POLG Nonsynonymous SNV Y831C 0.003 0.01 0.007 0 3 4 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 67159 chr14 52505517 52505517 G A rs2273432 NID2 Synonymous SNV D735D 0.005 0.026 0.007 5 6 10 0.013 2 0 0 0 1 11.85 67160 chr15 101847596 101847596 C T rs116918933 LOC100507472 0.022 0.021 0.01 5 26 8 0.013 3 0 1 0 0 3.161 67161 chr4 47680016 47680016 C T rs61760501 CORIN Synonymous SNV T292T 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 Benign 9.145 67162 chr4 159780252 159780252 T C rs148251675 FNIP2 Nonsynonymous SNV S324P 0.017 0.016 0.024 8 20 6 0.021 7 1 0 0 1 22.7 67163 chr4 159836336 159836336 G A rs78052401 C4orf45 Nonsynonymous SNV P178S 0.018 0.016 0.024 9 21 6 0.023 7 1 0 0 1 9.126 67164 chr14 55408294 55408294 C T rs41309252 WDHD1 Nonsynonymous SNV E979K 0.032 0.052 0.007 12 37 20 0.031 2 0 0 0 0 22.4 67165 chr4 15985975 15985975 T C rs202029748 PROM1 Nonsynonymous SNV S753G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.83 67166 chr15 91430511 91430511 G A rs757886415 FES Synonymous SNV A135A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.998 67167 chr15 90294118 90294118 G A rs140683208 MESP1 Synonymous SNV P115P 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 8.967 67168 chr15 23890231 23890231 G C rs368002823 MAGEL2 Nonsynonymous SNV R887G 0.003 0 0 0 4 0 0 0 0 0 0 0 26.3 67169 chr15 62274758 62274758 T G rs115871350 VPS13C Synonymous SNV A600A 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 8.542 67170 chr15 90320119 90320119 G A rs75049807 MESP2 Synonymous SNV A177A 0.026 0.036 0.01 10 31 14 0.026 3 1 0 0 0 Benign 10.77 67171 chr15 25925384 25925384 C A rs149423703 ATP10A Synonymous SNV A1250A 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 18.89 67172 chr14 62550919 62550919 A T rs367751830 SYT16 Synonymous SNV G299G 0.006 0.008 0 0 7 3 0 0 0 0 0 0 0.613 67173 chr4 166006743 166006743 T C rs372244546 TMEM192 Synonymous SNV G224G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.945 67174 chr4 52861978 52861978 G A rs140164230 LRRC66 Synonymous SNV L404L 0.007 0.013 0.007 3 8 5 0.008 2 0 0 0 0 2.606 67175 chr15 63340705 63340705 C T rs111470259 TPM1-AS 0.022 0.013 0.058 3 26 5 0.008 17 5 0 2 0 17.4 67176 chr15 86259075 86259075 A G rs750049575 AKAP13 Nonsynonymous SNV T507A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.062 67177 chr14 64604650 64604650 A G rs147640636 SYNE2 Nonsynonymous SNV K4931R 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Benign/Likely benign 18.25 67178 chr15 93595477 93595477 G T rs201940016 RGMA Nonsynonymous SNV P115T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 67179 chr14 64916197 64916197 C T rs372827157 MTHFD1 Nonsynonymous SNV R772C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.5 67180 chr4 56820412 56820412 G A rs77591659 CEP135 Nonsynonymous SNV R112H 0.046 0.065 0.051 18 54 25 0.046 15 2 1 0 0 Benign 0.407 67181 chr4 1695417 1695417 G A rs149711716 SLBP Synonymous SNV T205T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.31 67182 chr14 65197791 65197791 C A rs61742295 PLEKHG3 Synonymous SNV G251G 0.025 0.026 0.024 10 29 10 0.026 7 1 0 0 1 17.18 67183 chr14 65216120 65216120 C T rs57421986 SPTB Synonymous SNV A2297A 0.052 0.042 0.041 13 61 16 0.033 12 1 1 1 1 Benign 17.82 67184 chr14 60585193 60585193 C T rs201321269 PCNX4 Synonymous SNV F341F 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 9.713 67185 chr14 94582212 94582212 C T rs202049406 IFI27 Nonsynonymous SNV R28C 0.004 0.008 0 0 5 3 0 0 0 0 0 0 12.59 67186 chr15 99459197 99459197 T A rs951941410 IGF1R Synonymous SNV P611P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.092 67187 chr4 170913240 170913240 G A MFAP3L Synonymous SNV C70C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.112 67188 chr15 99500624 99500624 C T rs373440147 IGF1R Nonsynonymous SNV R1353C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 67189 chr14 23375464 23375464 C T rs200231890 RBM23 Nonsynonymous SNV R98Q 0 0 0.007 2 0 0 0.005 2 0 0 0 0 27.7 67190 chr4 173269737 173269737 T C rs114177519 GALNTL6 Synonymous SNV N150N 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 3.283 67191 chr15 95019926 95019926 C T rs79112132 MCTP2 Synonymous SNV G769G 0.02 0.005 0.017 6 23 2 0.015 5 0 0 0 0 7.689 67192 chr15 33446301 33446301 C G rs61744880 FMN1 Nonsynonymous SNV S272T 0.02 0.018 0.031 9 23 7 0.023 9 0 1 1 0 11.89 67193 chr15 33446302 33446302 T C rs192749688 FMN1 Nonsynonymous SNV S272G 0.02 0.018 0.027 9 23 7 0.023 8 0 1 1 0 12.45 67194 chr16 1128894 1128894 C T rs143790659 SSTR5 Nonsynonymous SNV T9M 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Likely benign 0.52 67195 chr14 71434943 71434943 C T rs139623749 PCNX1 Nonsynonymous SNV T166I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 22.6 67196 chr4 177138052 177138052 T C rs202130919 ASB5 Nonsynonymous SNV N260S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.3 67197 chr4 69964391 69964391 C A rs34661811 UGT2B7 Synonymous SNV A285A 0.062 0.049 0.065 19 73 19 0.049 19 4 1 0 2 drug response 15.92 67198 chr4 69973921 69973921 C T rs57913007 UGT2B7 Synonymous SNV A397A 0.061 0.049 0.071 19 72 19 0.049 21 3 1 0 2 drug response 10.45 67199 chr14 73421186 73421186 C T rs17856583 DCAF4 Nonsynonymous SNV L274F 0.018 0.029 0.017 12 21 11 0.031 5 0 1 0 0 12.87 67200 chr14 73490859 73490859 C T rs45476195 ZFYVE1 Nonsynonymous SNV V120M 0.016 0.026 0.017 10 19 10 0.026 5 0 1 0 0 18.86 67201 chr14 73706541 73706541 G A rs202232594 PAPLN 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.2 67202 chr15 39910319 39910319 G A rs369221759 FSIP1 Nonsynonymous SNV P439L 0.004 0 0 0 5 0 0 0 0 0 0 0 14.36 67203 chr15 68631894 68631894 C T rs61729767 ITGA11 Nonsynonymous SNV R407H 0.003 0.005 0.01 6 4 2 0.015 3 0 0 0 0 26.8 67204 chr4 183717884 183717884 C T rs760848846 TENM3 Synonymous SNV Y2436Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 67205 chr4 71510215 71510215 T C rs138729240 ENAM Synonymous SNV P806P 0.011 0.01 0 6 13 4 0.015 0 0 0 0 0 Uncertain significance 0.002 67206 chr14 74086315 74086315 G A rs370834726 ACOT6 Synonymous SNV G132G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.16 67207 chr4 185772233 185772244 CCTATGCCCTCC - rs145931056 MIR3945 0 0 0.187 0 0 0 0 55 0 0 6 0 67208 chr15 40660192 40660192 C T rs8040755 DISP2 Synonymous SNV L627L 0.069 0.06 0.075 19 81 23 0.049 22 3 1 0 0 10.17 67209 chr15 40675155 40675155 C A rs7164132 KNSTRN Nonsynonymous SNV A40E 0.07 0.063 0.082 19 82 24 0.049 24 3 1 0 0 27.9 67210 chr15 40675244 40675244 G A rs376621331 KNSTRN Nonsynonymous SNV G70R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 15.64 67211 chr15 40675443 40675443 G T rs7169404 KNSTRN Nonsynonymous SNV R75L 0.072 0.06 0.082 22 84 23 0.056 24 3 1 0 0 15.11 67212 chr15 40675493 40675493 C T rs7169262 KNSTRN Nonsynonymous SNV P92S 0.072 0.06 0.082 22 84 23 0.056 24 3 1 0 0 0.001 67213 chr15 40683702 40683702 A G rs11541642 KNSTRN Nonsynonymous SNV S232G 0.059 0.057 0.058 18 69 22 0.046 17 2 1 0 0 10.46 67214 chr14 71443674 71443674 G A rs143154004 PCNX1 Nonsynonymous SNV R207Q 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 19.73 67215 chr14 73220035 73220035 G A rs369823716 DPF3 Nonsynonymous SNV R80C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 67216 chr14 75349301 75349301 G A DLST Nonsynonymous SNV C24Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 67217 chr15 91795173 91795173 T A rs12909119 SV2B Synonymous SNV S41S 0.044 0.026 0.027 15 52 10 0.038 8 0 0 0 0 6.201 67218 chr14 73421159 73421159 A G rs117449182 DCAF4 Nonsynonymous SNV S265G 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 Likely benign 27.3 67219 chr16 12798778 12798778 C T rs149102231 CPPED1 Nonsynonymous SNV E140K 0.021 0.018 0.02 7 25 7 0.018 6 0 0 0 0 5.113 67220 chr16 15808876 15808876 C G rs113964173 MYH11 Nonsynonymous SNV E1892D 0.009 0.016 0.007 4 10 6 0.01 2 0 0 0 0 Benign/Likely benign 27.3 67221 chr4 187628419 187628419 C T rs180820128 FAT1 Nonsynonymous SNV G855R 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 67222 chr4 187628565 187628565 C T rs765342648 FAT1 Nonsynonymous SNV R806H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 67223 chr15 41247859 41247859 A T rs112036939 CHAC1 Nonsynonymous SNV M186L 0.007 0.008 0.017 3 8 3 0.008 5 0 0 0 0 9.335 67224 chr15 41339697 41339697 T C rs34153025 INO80 Nonsynonymous SNV I882V 0.005 0.003 0.017 1 6 1 0.003 5 0 0 0 0 10.46 67225 chr4 25792107 25792107 A G rs371793673 SEL1L3 Synonymous SNV H647H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.663 67226 chr15 42111100 42111100 C T rs61729964 MAPKBP1 Nonsynonymous SNV R746W 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 Benign 24.3 67227 chr4 25821451 25821451 C T rs773292219 SEL1L3 Nonsynonymous SNV G433R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.24 67228 chr14 75330256 75330256 G A rs184323713 PROX2 Synonymous SNV R94R 0.008 0.013 0.007 3 9 5 0.008 2 0 0 0 0 2.571 67229 chr14 75330435 75330435 C T rs180960227 PROX2 Nonsynonymous SNV D35N 0.008 0.013 0.007 3 9 5 0.008 2 0 0 0 0 9.868 67230 chr14 75373783 75373783 A G rs138501061 RPS6KL1 Synonymous SNV G296G 0.008 0.013 0.007 3 9 5 0.008 2 0 0 0 0 13.75 67231 chr14 75376687 75376687 C T rs148670608 RPS6KL1 Nonsynonymous SNV A277T 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 7.479 67232 chr15 42146279 42146279 C A rs367982601 SPTBN5 Nonsynonymous SNV R3248L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 67233 chr14 75498812 75498812 C T rs28757027 MLH3 Synonymous SNV P1238P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.6 67234 chr15 78466011 78466011 G A rs138480953 ACSBG1 Synonymous SNV N667N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.574 67235 chr16 1537510 1537510 C T rs201970670 PTX4 Synonymous SNV P196P 0.022 0.013 0.003 8 26 5 0.021 1 0 0 0 1 10.88 67236 chr4 83350488 83350488 G A rs75779369 HNRNPDL Nonsynonymous SNV T119I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 22.7 67237 chr4 83557823 83557823 G A rs75025667 SCD5 Synonymous SNV A241A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.14 67238 chr4 3250964 3250964 C A rs371508114 MSANTD1 Synonymous SNV A5A 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 10.85 67239 chr15 78825575 78825575 G A rs185076791 HYKK Nonsynonymous SNV D229N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 67240 chr14 77229355 77229355 G A VASH1 Nonsynonymous SNV R64Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 67241 chr4 3447034 3447034 G A rs34491545 HGFAC Synonymous SNV K353K 0.032 0.036 0.071 10 38 14 0.026 21 1 0 2 0 11.54 67242 chr4 3449861 3449861 G A rs777728243 HGFAC Nonsynonymous SNV S548N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.752 67243 chr15 34137131 34137131 G A rs118177681 RYR3 Synonymous SNV E4450E 0.012 0.023 0.027 11 14 9 0.028 8 0 0 0 0 Benign 10.28 67244 chr14 86089253 86089253 C T rs17714100 FLRT2 Synonymous SNV I465I 0.03 0.034 0.01 6 35 13 0.015 3 0 0 0 0 10.91 67245 chr14 86089508 86089508 G T rs17646495 FLRT2 Synonymous SNV A550A 0.03 0.034 0.01 6 35 13 0.015 3 0 0 0 0 2.168 67246 chr4 84222208 84222208 A G rs11031 HPSE Synonymous SNV N385N 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 0.254 67247 chr4 3526642 3526642 T C rs2228158 LRPAP1 Nonsynonymous SNV N114S 0.03 0.034 0.044 6 35 13 0.015 13 0 1 0 0 0.002 67248 chr15 36946332 36946332 C T rs1047966309 C15orf41 Synonymous SNV A45A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.08 67249 chr4 36126572 36126572 C T rs765164377 ARAP2 Nonsynonymous SNV E1220K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 67250 chr14 91763722 91763722 G A CCDC88C Nonsynonymous SNV A1298V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 67251 chr15 81241247 81241249 GAA - rs200201338 CEMIP K1360del 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 67252 chr16 1814205 1814205 C T rs372631645 MAPK8IP3 Synonymous SNV T698T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.67 67253 chr16 12662395 12662395 G A rs192670414 SNX29 Nonsynonymous SNV S784N 0.011 0.013 0.027 3 13 5 0.008 8 0 0 0 0 12.39 67254 chr4 88986531 88986531 C T rs772904125 PKD2 Synonymous SNV Y708Y 0.003 0 0 0 4 0 0 0 0 0 0 0 10.26 67255 chr14 92469907 92469907 T G rs144780536 TRIP11 Synonymous SNV T1470T 0.011 0.005 0.007 4 13 2 0.01 2 0 0 0 0 Benign/Likely benign 0.185 67256 chr15 42576009 42576009 G A rs867485208 GANC Nonsynonymous SNV A207T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.971 67257 chr15 42614036 42614036 A T rs751368632 GANC Nonsynonymous SNV N371Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 67258 chr14 93043782 93043782 G A rs144784839 RIN3 Synonymous SNV S34S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.532 67259 chr15 83455758 83455758 C A FSD2 Nonsynonymous SNV A129S 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 3.571 67260 chr14 93107590 93107590 C T rs34101393 RIN3 Synonymous SNV L75L 0.026 0.021 0.031 1 30 8 0.003 9 0 1 0 0 14.94 67261 chr4 90857479 90857479 G A rs12646270 MMRN1 Nonsynonymous SNV G883D 0.023 0.01 0.007 6 27 4 0.015 2 0 0 0 0 0.004 67262 chr14 93118790 93118790 A C rs139248637 RIN3 Nonsynonymous SNV I391L 0.012 0.005 0.014 1 14 2 0.003 4 0 0 0 0 1.788 67263 chr15 42979146 42979146 A G rs74475031 STARD9 Synonymous SNV Q1790Q 0.018 0.013 0.031 7 21 5 0.018 9 0 0 0 0 0.009 67264 chr16 21136563 21136563 G A rs374189001 DNAH3 Nonsynonymous SNV S446L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 67265 chr16 1961726 1961726 G C rs61740580 HS3ST6 Synonymous SNV P298P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.018 67266 chr4 39482684 39482684 A C rs2260645 LOC401127 0 0 0.51 0 0 0 0 150 0 0 68 0 0.1 67267 chr4 39483162 39483162 G A rs11941935 LOC401127 0 0 0.289 0 0 0 0 85 0 0 17 0 1.225 67268 chr14 89042247 89042247 T C ZC3H14 Synonymous SNV A207A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 5.302 67269 chr16 2138584 2138584 G C rs1051771 TSC2 Synonymous SNV S1555S 0.041 0.057 0.051 13 48 22 0.033 15 3 0 0 0 Benign 0.172 67270 chr16 2140321 2140321 G A rs79899502 PKD1 Synonymous SNV L4136L 0.037 0.047 0.044 12 43 18 0.031 13 3 0 0 0 Benign 9.101 67271 chr15 43028521 43028521 G A rs370757859 CDAN1 Nonsynonymous SNV S183L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 67272 chr16 2140554 2140554 G A rs3209986 PKD1 Nonsynonymous SNV A4058V 0.038 0.049 0.044 12 45 19 0.031 13 3 0 0 0 Benign 8.946 67273 chr15 86122875 86122875 A C rs34434221 AKAP13 Nonsynonymous SNV K526Q 0.026 0.034 0.037 6 30 13 0.015 11 0 0 0 0 4.994 67274 chr4 40434863 40434863 A G rs34196855 RBM47 Synonymous SNV I380I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 9.415 67275 chr16 2144176 2144176 G A rs34197769 PKD1 Nonsynonymous SNV A3511V 0.038 0.052 0.058 12 45 20 0.031 17 3 0 1 0 Benign 0.001 67276 chr4 420479 420479 C T rs149310349 ABCA11P 0 0 0.027 0 0 0 0 8 0 0 1 0 7.923 67277 chr14 55168914 55168914 C G rs17127792 SAMD4A Nonsynonymous SNV H111D 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 24.3 67278 chr4 420686 420686 T C rs200728851 ABCA11P 0 0 0.027 0 0 0 0 8 0 0 1 0 1.021 67279 chr14 95236204 95236204 - CGC rs552249582 GSC G49_A50insG 0.033 0.034 0.01 16 39 13 0.041 3 0 1 0 1 67280 chr4 102816487 102816487 T C rs116329129 BANK1 Nonsynonymous SNV V177A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.55 67281 chr16 2138570 2138570 C T rs45517423 TSC2 Nonsynonymous SNV R1551C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 67282 chr14 57858194 57858194 C G rs45583845 NAA30 Synonymous SNV T173T 0.016 0.021 0.041 15 19 8 0.038 12 0 0 1 0 10.32 67283 chr16 23098469 23098469 T C rs115885362 USP31 Synonymous SNV G522G 0.047 0.042 0.037 14 55 16 0.036 11 0 0 0 0 6.872 67284 chr14 93712337 93712337 G C rs146853662 BTBD7 Nonsynonymous SNV T455R 0.009 0.008 0.014 1 10 3 0.003 4 0 0 0 0 24 67285 chr14 58820568 58820568 T C rs17832939 ARID4A Synonymous SNV N616N 0.011 0.013 0.034 5 13 5 0.013 10 0 0 2 0 3.006 67286 chr4 48136181 48136181 G C rs140806716 TXK Nonsynonymous SNV L3V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.693 67287 chr15 48626647 48626647 A G rs28381112 DUT Synonymous SNV K63K 0.01 0.01 0.01 1 12 4 0.003 3 0 0 0 0 5.719 67288 chr15 89399986 89399986 C G rs201822759 ACAN Nonsynonymous SNV D1390E 0.017 0.021 0.007 6 20 8 0.015 2 3 2 0 1 0.002 67289 chr16 24950880 24950880 C T rs78457529 ARHGAP17 Nonsynonymous SNV R510Q 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 35 67290 chr4 48582883 48582883 T C rs200167217 FRYL Nonsynonymous SNV Q753R 0 0 0.007 0 0 0 0 2 0 0 0 0 18.71 67291 chr4 106819089 106819089 C T rs147630398 NPNT Synonymous SNV L35L 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 12.67 67292 chr16 25703777 25703777 G A HS3ST4 Synonymous SNV P13P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.39 67293 chr16 24583641 24583641 G A rs968511962 RBBP6 Nonsynonymous SNV G1718S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 67294 chr4 107168439 107168439 G T TBCK Nonsynonymous SNV T200N 0.003 0 0 0 3 0 0 0 0 0 0 0 20.8 67295 chr14 60464553 60464553 T A rs752398420 LRRC9 Nonsynonymous SNV N797K 0 0 0.003 3 0 0 0.008 1 0 0 0 0 27.7 67296 chr15 51350360 51350360 C G rs778499367 TNFAIP8L3 Nonsynonymous SNV K111N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24 67297 chr16 2813517 2813517 C T rs140191989 SRRM2 Synonymous SNV Y996Y 0.019 0.018 0.01 14 22 7 0.036 3 0 0 0 0 Benign 0.029 67298 chr14 60950509 60950509 T C rs148637760 C14orf39 Nonsynonymous SNV K45E 0.007 0.013 0 5 8 5 0.013 0 0 0 0 0 24.2 67299 chr4 110773048 110773048 C A rs61745483 LRIT3 Nonsynonymous SNV P169T 0.027 0.023 0.037 11 32 9 0.028 11 0 0 0 0 Likely benign 28.1 67300 chr16 27374696 27374696 C T rs3024678 IL4R Nonsynonymous SNV P675S 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 13.85 67301 chr15 90168873 90168873 T C rs117395022 TICRR Synonymous SNV L1777L 0.022 0.023 0.027 5 26 9 0.013 8 0 0 0 0 0.066 67302 chr16 19896754 19896754 C - GPRC5B V55Cfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 67303 chr16 2017772 2017772 G A rs62617081 RNF151 Nonsynonymous SNV V66I 0.008 0.01 0.007 6 9 4 0.015 2 0 1 0 0 0.609 67304 chr16 2018554 2018554 G T rs114840677 RNF151 Synonymous SNV V122V 0.008 0.01 0.007 6 9 4 0.015 2 0 1 0 0 0.031 67305 chr16 2018578 2018578 C G rs45488492 RNF151 Nonsynonymous SNV H130Q 0.012 0.021 0.017 10 14 8 0.026 5 0 1 0 0 21.7 67306 chr16 2018650 2018650 G A rs45484597 RNF151 Synonymous SNV E154E 0.009 0.01 0.007 6 10 4 0.015 2 0 1 0 0 0.15 67307 chr16 2018912 2018912 A G rs62617079 RNF151 Nonsynonymous SNV I242V 0.008 0.008 0.007 4 9 3 0.01 2 0 1 0 0 0.001 67308 chr14 99182559 99182559 G A rs8009159 C14orf177 0.016 0.023 0.014 12 19 9 0.031 4 0 0 0 0 11.58 67309 chr16 2026915 2026915 G A rs778681001 TBL3 Nonsynonymous SNV G465S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.042 67310 chr15 29397593 29397593 C T rs35322773 APBA2 Synonymous SNV I204I 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Benign 18.07 67311 chr4 6303646 6303646 C T rs61735401 WFS1 Synonymous SNV R708R 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 6.119 67312 chr15 29398920 29398920 G A rs140055297 APBA2 Synonymous SNV P297P 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Benign/Likely benign 9.836 67313 chr15 91475753 91475753 C G HDDC3 Synonymous SNV A6A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 67314 chr15 57524541 57524541 G C TCF12 Nonsynonymous SNV Q76H 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 26.1 67315 chr15 31329942 31329942 G A rs180869804 TRPM1 Nonsynonymous SNV A865V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 27 67316 chr15 50773787 50773787 A G rs3743044 USP8 Nonsynonymous SNV D366G 0.016 0.008 0.02 1 19 3 0.003 6 0 0 0 0 Benign 25 67317 chr16 30975501 30975501 C T rs61744415 SETD1A Synonymous SNV P242P 0.015 0.016 0.003 8 18 6 0.021 1 0 0 0 0 Benign 13.62 67318 chr15 50789423 50789423 G A rs11857513 USP8 Synonymous SNV L905L 0.017 0.008 0.024 1 20 3 0.003 7 0 0 0 0 Benign 16.95 67319 chr16 21212838 21212838 G A rs141482461 ZP2 Synonymous SNV L507L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 3.428 67320 chr15 50897114 50897114 A G rs35224461 TRPM7 Synonymous SNV F979F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.063 67321 chr15 59383289 59383289 A G rs141414694 RNF111 Nonsynonymous SNV N901S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 23.3 67322 chr15 51689763 51689763 G A rs143383924 GLDN Nonsynonymous SNV R138Q 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 22.9 67323 chr15 23891355 23891355 G A rs886043318 MAGEL2 Nonsynonymous SNV P512L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.48 67324 chr15 62221841 62221841 A G rs201010563 VPS13C Nonsynonymous SNV Y2006H 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 27.7 67325 chr15 62456267 62456267 A G rs200774497 C2CD4B Nonsynonymous SNV V306A 0.005 0.018 0.003 1 6 7 0.003 1 0 0 0 0 24.4 67326 chr4 70455248 70455248 C T rs67327460 UGT2A1, UGT2A2 Nonsynonymous SNV V441I 0.024 0.029 0.02 8 28 11 0.021 6 1 0 0 0 0.061 67327 chr15 28358331 28358331 C T rs137918449 HERC2 Synonymous SNV E4706E 0.008 0 0.01 3 9 0 0.008 3 0 0 0 0 Benign 18.36 67328 chr15 63958256 63958256 G A rs764147265 HERC1 Nonsynonymous SNV S2806L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 67329 chr16 10989219 10989219 C G rs2229317 CIITA Nonsynonymous SNV L45V 0.013 0.016 0.014 11 15 6 0.028 4 1 0 0 0 Benign 12.72 67330 chr16 11000417 11000417 G A rs140486686 CIITA Synonymous SNV P356P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.711 67331 chr15 35746955 35746955 C - DPH6 E127Kfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 67332 chr16 11272330 11272330 G A rs72650689 CLEC16A Nonsynonymous SNV S982N 0.019 0.029 0.01 9 22 11 0.023 3 0 0 0 0 Likely benign 28.2 67333 chr15 38990668 38990668 G A rs199890938 LINC02694 0.001 0 0 0 1 0 0 0 0 0 0 0 3.66 67334 chr15 55976015 55976015 T C rs151321413 PRTG Nonsynonymous SNV N171S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 67335 chr16 24808891 24808891 G A rs145429184 TNRC6A Synonymous SNV S1214S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.32 67336 chr15 31775581 31775581 C G rs758258900 OTUD7A Synonymous SNV G899G 0.002 0 0.014 0 2 0 0 4 0 0 0 0 10.34 67337 chr4 74350083 74350083 G A rs140621266 AFM Synonymous SNV T82T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.041 67338 chr16 2548257 2548257 C T rs184389316 TBC1D24 Synonymous SNV A328A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 13.16 67339 chr16 11981501 11981501 G A rs769491220 GSPT1 Synonymous SNV L294L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11 67340 chr14 75276118 75276118 C A rs117142821 YLPM1 Synonymous SNV G1519G 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 12.67 67341 chr15 65667592 65667592 C A rs113171100 IGDCC3 Nonsynonymous SNV E84D 0.003 0 0 0 4 0 0 0 0 0 0 0 7.262 67342 chr4 140811528 140811528 A G rs183067553 MAML3 Synonymous SNV S354S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.049 67343 chr4 141419320 141419320 G A rs72718308 MGAT4D Synonymous SNV S19S 0.009 0 0.024 1 10 0 0.003 7 0 0 0 0 9.953 67344 chr4 141590135 141590135 C T rs61742550 TBC1D9 Synonymous SNV T508T 0.031 0.026 0.044 10 36 10 0.026 13 0 0 1 0 18 67345 chr16 28601448 28601448 G A rs759915589 SGF29 Synonymous SNV S107S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 67346 chr16 1272655 1272655 C T rs117769620 TPSG1 Nonsynonymous SNV G170R 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 15.85 67347 chr16 3656645 3656645 A G rs147826749 SLX4 Nonsynonymous SNV V197A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.024 67348 chr16 3722738 3722738 G C TRAP1 Synonymous SNV A323A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.619 67349 chr15 59494597 59494597 T C rs762919779 MYO1E Nonsynonymous SNV I542M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23 67350 chr4 147560411 147560411 T C rs13152799 POU4F2 Nonsynonymous SNV I40T 0.079 0.096 0.112 22 93 37 0.056 33 1 1 1 0 2.774 67351 chr15 60741703 60741703 C T rs143271506 ICE2 Nonsynonymous SNV G351E 0.014 0.008 0.007 2 16 3 0.005 2 0 0 0 0 0.003 67352 chr15 66791757 66791759 CTT - rs746071505 RPL4 K424del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 67353 chr4 147560466 147560466 - GGC POU4F2 G68_R69insG 0.069 0.083 0 23 81 32 0.059 0 0 0 0 0 67354 chr15 62238002 62238002 G A rs114089496 VPS13C Nonsynonymous SNV A1644V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 22.5 67355 chr15 62456982 62456982 C G rs146941362 C2CD4B Nonsynonymous SNV A68P 0.014 0.016 0.01 4 17 6 0.01 3 0 0 0 0 22.7 67356 chr16 29998920 29998920 G A rs61738516 TAOK2 Synonymous SNV R1109R 0.003 0.005 0.003 5 3 2 0.013 1 0 0 0 0 Benign 3.359 67357 chr4 151520216 151520216 G A rs35879351 LRBA Nonsynonymous SNV R1997C 0.027 0.026 0.027 11 32 10 0.028 8 0 0 0 0 Benign/Likely benign 32 67358 chr4 151835364 151835364 A G rs62344598 LRBA Synonymous SNV L382L 0.036 0.029 0.041 10 42 11 0.026 12 1 0 0 0 Benign 10.47 67359 chr4 79507418 79507418 C T rs41278059 ANXA3 Nonsynonymous SNV A106V 0.009 0.013 0.014 4 10 5 0.01 4 0 0 0 0 13.46 67360 chr16 30594521 30594521 A C rs35215913 ZNF785 Nonsynonymous SNV V193G 0.031 0.023 0.02 10 36 9 0.026 6 1 0 0 0 21.5 67361 chr16 30594744 30594744 C T rs35974081 ZNF785 Nonsynonymous SNV E119K 0.031 0.023 0.02 10 36 9 0.026 6 1 0 0 0 8.715 67362 chr16 30680522 30680522 C T rs976767328 FBRS Synonymous SNV A833A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.046 67363 chr4 81865979 81865979 C T rs149006937 CFAP299 Synonymous SNV D164D 0.012 0.008 0.007 5 14 3 0.013 2 0 0 0 0 11.32 67364 chr16 30735348 30735348 C G rs117804715 SRCAP Nonsynonymous SNV P1535A 0.022 0.013 0.017 8 26 5 0.021 5 1 0 0 0 Benign/Likely benign 14.7 67365 chr16 4702770 4702770 G A rs781100866 MGRN1 Nonsynonymous SNV V130M 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 28.1 67366 chr16 4833502 4833502 G A rs138202109 SEPTIN12 Synonymous SNV D183D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.629 67367 chr15 42154378 42154378 G A rs370340431 SPTBN5 Nonsynonymous SNV R2500C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 10.76 67368 chr4 8293193 8293193 G A rs111620813 HTRA3 Nonsynonymous SNV V269M 0.009 0.005 0.02 4 11 2 0.01 6 0 0 0 0 26.6 67369 chr16 4846036 4846036 T C rs926662554 SMIM22, SMIM22 Nonsynonymous SNV V71A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.56 67370 chr15 73408968 73408968 A G NEO1 Nonsynonymous SNV N73S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 67371 chr14 81862315 81862315 A G rs917616536 STON2 Nonsynonymous SNV I99T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.8 67372 chr16 31092470 31092470 C T rs149395188 ZNF646 Nonsynonymous SNV R1609W 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 13.86 67373 chr4 85414643 85414643 C T rs147737825 NKX6-1 Synonymous SNV T301T 0.011 0.01 0.01 8 13 4 0.021 3 0 0 0 1 Benign 21.7 67374 chr15 41068771 41068771 T G rs79709714 DNAJC17 Nonsynonymous SNV E117A 0.012 0.021 0.017 10 14 8 0.026 5 0 0 0 0 15.04 67375 chr16 53692773 53692773 C T rs138383101 RPGRIP1L Nonsynonymous SNV V421I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.44 67376 chr15 41313286 41313286 C T INO80 Nonsynonymous SNV R1029Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 67377 chr16 31309175 31309175 C T rs202010329 ITGAM Nonsynonymous SNV T536M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 67378 chr15 42727621 42727621 G A rs35896246 ZNF106 Synonymous SNV T776T 0.017 0.016 0.02 7 20 6 0.018 6 1 0 0 0 9.945 67379 chr15 42978966 42978966 T C rs914698494 STARD9 Synonymous SNV A1730A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.257 67380 chr15 43022855 43022855 A G rs201407244 CDAN1 Synonymous SNV H705H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.041 67381 chr15 43317071 43317071 T C rs35069201 UBR1 Nonsynonymous SNV I899V 0.018 0.023 0.034 5 21 9 0.013 10 0 0 0 0 Benign 0.014 67382 chr15 75122629 75122629 C T rs147366687 CPLX3 Synonymous SNV L137L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 15.27 67383 chr15 44092708 44092708 C G rs143419506 SERF2-C15ORF63 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 17.84 67384 chr4 158253979 158253979 T C rs34460606 GRIA2 Synonymous SNV S297S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 4.732 67385 chr15 44102034 44102034 G A rs779503207 MFAP1 Synonymous SNV N322N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.81 67386 chr15 44856873 44856873 G A rs80338869 SPG11 Synonymous SNV Y2228Y 0.038 0.026 0.054 14 45 10 0.036 16 1 0 0 0 Conflicting interpretations of pathogenicity 9.89 67387 chr15 75305040 75305040 A G rs7174129 SCAMP5 Synonymous SNV P10P 0.104 0.141 0.102 48 122 54 0.123 30 7 3 4 7 4.88 67388 chr16 19079005 19079005 G T rs766573744 COQ7 Nonsynonymous SNV A7S 0 0.005 0 0 0 2 0 0 0 0 0 0 15.31 67389 chr4 88537448 88537456 GACAGCAGC - rs765828689 DSPP S1229_S1231del 0 0 0.037 0 0 0 0 11 0 0 1 0 67390 chr16 3254783 3254783 C G rs61731438 OR1F1 Nonsynonymous SNV C179W 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 24.2 67391 chr4 88732573 88732573 G C rs140447227 IBSP Nonsynonymous SNV E155D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.56 67392 chr4 164435264 164435264 - A rs768974165 TMA16 Frameshift insertion R68Efs*9 0.002 0 0 0 2 0 0 0 0 0 0 0 67393 chr16 56704438 56704438 G A rs9934181 MT1H Nonsynonymous SNV G17S 0.001 0.01 0.007 4 1 4 0.01 2 0 0 0 0 8.038 67394 chr15 69689700 69689700 C T rs78025844 LOC145694 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.001 67395 chr15 69714347 69714347 T C rs34969957 KIF23 Synonymous SNV Y111Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 0.045 67396 chr16 56362653 56362653 A G rs141057479 GNAO1 Synonymous SNV Q138Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign/Likely benign 6.135 67397 chr15 77324693 77324693 G A rs104895418 PSTPIP1 Nonsynonymous SNV D266N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.514 67398 chr16 1961835 1961835 C T rs375310728 HS3ST6 Nonsynonymous SNV R262H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 67399 chr15 42173313 42173313 G A rs76003397 SPTBN5 Synonymous SNV D859D 0.009 0.013 0.02 4 11 5 0.01 6 0 0 0 0 0.271 67400 chr14 93940619 93940619 C T rs142898171 UNC79 Nonsynonymous SNV R110C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.87 67401 chr4 90035356 90035356 G A rs779910205 TIGD2 Nonsynonymous SNV A411T 0 0 0.007 0 0 0 0 2 0 0 0 0 16.88 67402 chr4 906562 906562 C T rs147271443 GAK Synonymous SNV E76E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.17 67403 chr16 57416803 57416803 C T rs368338566 CX3CL1 Synonymous SNV L266L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.78 67404 chr16 57464236 57464236 G A rs170358 CIAPIN1 Stop gain R216X 0.049 0.049 0.058 18 57 19 0.046 17 3 0 0 0 14.96 67405 chr16 57484954 57484954 G T rs373320547 COQ9 Nonsynonymous SNV A26S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 67406 chr16 57486731 57486731 C T rs376613524 COQ9 Synonymous SNV G87G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.69 67407 chr16 57484980 57484980 G A rs223864 COQ9 Synonymous SNV P34P 0.049 0.049 0.048 16 57 19 0.041 14 3 0 0 0 Conflicting interpretations of pathogenicity 12.52 67408 chr16 57602001 57602001 G A rs74019570 ADGRG5 Nonsynonymous SNV R352H 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 12.31 67409 chr16 20352618 20352618 C A rs55772253 UMOD Nonsynonymous SNV V458L 0.033 0.029 0.017 8 39 11 0.021 5 0 0 0 0 Benign 33 67410 chr16 20396057 20396057 T C rs139688634 PDILT Nonsynonymous SNV K107E 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 13.5 67411 chr15 43784504 43784504 G A rs900018235 TP53BP1 Nonsynonymous SNV T57M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 67412 chr15 74536472 74536472 G A rs137913437 CCDC33 Synonymous SNV P56P 0.006 0 0 0 7 0 0 0 0 0 0 0 3.296 67413 chr15 80872845 80872845 G T rs145379118 ARNT2 Nonsynonymous SNV Q569H 0.018 0.016 0.01 3 21 6 0.008 3 0 0 0 0 Likely benign 22.5 67414 chr15 44068996 44068996 C G rs148271399 ELL3 Nonsynonymous SNV R35P 0.004 0 0 0 5 0 0 0 0 0 0 0 33 67415 chr16 57993841 57993841 C T rs61745888 CNGB1 Nonsynonymous SNV G238S 0.038 0.023 0 17 45 9 0.044 0 1 0 0 0 Benign/Likely benign 0.043 67416 chr16 57993947 57993947 T C rs76788887 CNGB1 Synonymous SNV E202E 0.039 0.029 0.01 17 46 11 0.044 3 1 0 0 0 Benign/Likely benign 0.145 67417 chr15 44856827 44856827 G A rs139334167 SPG11 Nonsynonymous SNV L2244F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25 67418 chr16 58032026 58032026 G A rs56347618 ZNF319 Synonymous SNV A48A 0.066 0.057 0.058 33 78 22 0.085 17 1 0 1 1 0.156 67419 chr16 46637945 46637945 C T rs200589685 SHCBP1 Nonsynonymous SNV R267Q 0 0.005 0 0 0 2 0 0 0 0 0 0 0.065 67420 chr5 108294936 108294936 G A rs373617030 FER Nonsynonymous SNV R146Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 67421 chr16 2094653 2094653 A G rs1805378 NTHL1 Nonsynonymous SNV I58T 0.016 0.013 0.01 5 19 5 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 67422 chr5 109219577 109219577 C T rs13161708 LINC01848 0 0 0.02 0 0 0 0 6 0 0 0 0 4.291 67423 chr5 110432820 110432820 C T rs148990528 WDR36 Synonymous SNV G134G 0.011 0.018 0.014 2 13 7 0.005 4 0 0 0 0 Likely benign 15.17 67424 chr5 110436345 110436345 A C rs142088179 WDR36 Nonsynonymous SNV H212P 0.011 0.018 0.014 2 13 7 0.005 4 0 0 0 0 Likely benign 26.7 67425 chr5 110436346 110436346 T C rs145835374 WDR36 Synonymous SNV H212H 0.011 0.018 0.014 2 13 7 0.005 4 0 0 0 0 Likely benign 1.561 67426 chr15 83677271 83677271 A - rs373204607 C15orf40 Stop gain L132* 0.027 0.016 0.017 12 32 6 0.031 5 0 0 0 0 67427 chr16 2140325 2140325 G A rs778789036 PKD1 Synonymous SNV R4134R 0 0.005 0 0 0 2 0 0 0 0 0 0 8.251 67428 chr15 78310207 78310207 C T rs745720679 TBC1D2B Synonymous SNV E521E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.25 67429 chr5 111755619 111755619 G A rs61730663 EPB41L4A-DT 0 0 0.126 0 0 0 0 37 0 0 3 0 3.337 67430 chr16 49672775 49672775 G A rs117266679 ZNF423 Synonymous SNV D36D 0.007 0.018 0 0 8 7 0 0 0 0 0 0 Benign/Likely benign 11.98 67431 chr4 185681514 185681514 C A rs141504824 ACSL1 Synonymous SNV L559L 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 16.59 67432 chr16 2230390 2230390 C T rs527463398 CASKIN1 Synonymous SNV V993V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.83 67433 chr16 50744688 50744688 A G rs5743271 NOD2 Nonsynonymous SNV N262S 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 Benign/Likely benign 0.026 67434 chr4 186294093 186294093 G A rs776846609 LRP2BP Synonymous SNV R240R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.555 67435 chr16 23160238 23160238 A G rs184560422 USP31 Synonymous SNV A118A 0.025 0.026 0.031 10 29 10 0.026 9 0 0 0 0 3.98 67436 chr15 79296444 79296444 C T rs755638460 RASGRF1 Nonsynonymous SNV A717T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 67437 chr4 186379725 186379725 G C CCDC110 Synonymous SNV A635A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.899 67438 chr16 53262964 53262964 C T rs35198193 CHD9 Synonymous SNV I746I 0.031 0.042 0.092 16 36 16 0.041 27 5 1 1 2 12.76 67439 chr16 66436661 66436661 G A rs780307634 CDH5 Synonymous SNV E648E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.348 67440 chr16 23698820 23698820 G A rs781776740 PLK1 Nonsynonymous SNV R356Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 67441 chr5 114951926 114951926 T C rs750371021 TMED7 Nonsynonymous SNV T219A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 67442 chr15 62315651 62315651 G T rs201593231 VPS13C Nonsynonymous SNV Q152K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 67443 chr15 83349715 83349715 G T rs760520057 AP3B2 Nonsynonymous SNV D183E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 67444 chr15 89403621 89403621 C T rs370259683 ACAN Synonymous SNV H2299H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.649 67445 chr16 67709262 67709262 G A rs34895002 GFOD2 Synonymous SNV F318F 0.032 0.036 0.065 14 38 14 0.036 19 2 0 1 0 2.767 67446 chr16 67848273 67848273 A G rs1050877727 TSNAXIP1 Nonsynonymous SNV N39S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.885 67447 chr16 56995935 56995935 C G rs34065661 CETP Nonsynonymous SNV A15G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 9.047 67448 chr16 706508 706508 C T rs201933777 WDR90 Nonsynonymous SNV R725C 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 27.7 67449 chr15 89837139 89837139 G T rs11857960 FANCI Synonymous SNV A789A 0.023 0.031 0.02 7 27 12 0.018 6 0 0 0 0 Benign 14.12 67450 chr15 53907679 53907679 T C rs16966318 WDR72 Synonymous SNV L908L 0.057 0.044 0.024 13 67 17 0.033 7 2 1 0 0 Likely benign 8.432 67451 chr15 53907906 53907906 A C rs16966320 WDR72 Nonsynonymous SNV S833A 0.057 0.044 0.034 14 67 17 0.036 10 2 1 0 0 Likely benign 2.275 67452 chr15 89864020 89864020 G A rs2307431 POLG Synonymous SNV Y986Y 0.009 0 0.007 2 11 0 0.005 2 0 0 0 0 Benign/Likely benign 0.708 67453 chr16 70697838 70697838 G A rs757136499 MTSS2 Synonymous SNV D662D 0.005 0.005 0 2 6 2 0.005 0 0 1 0 0 1.766 67454 chr15 63988400 63988400 G C rs74814914 HERC1 Nonsynonymous SNV L1682V 0.01 0 0.017 7 12 0 0.018 5 0 0 0 0 25.5 67455 chr15 53908062 53908062 T C rs60404950 WDR72 Nonsynonymous SNV K781E 0.057 0.044 0.034 13 67 17 0.033 10 2 1 0 0 Likely benign 8.34 67456 chr15 85164013 85164013 A C rs142275625 ZSCAN2 Nonsynonymous SNV H196P 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.001 67457 chr4 189020319 189020319 C T rs150263298 TRIML2 Nonsynonymous SNV R164H 0.004 0 0 0 5 0 0 0 0 0 0 0 0.866 67458 chr16 28846402 28846402 G T ATXN2L Nonsynonymous SNV Q825H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.8 67459 chr15 64221766 64221766 C T rs140850258 DAPK2 Nonsynonymous SNV V215I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 67460 chr16 68156132 68156132 A G rs771954147 NFATC3 Nonsynonymous SNV I116V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 67461 chr16 68156602 68156602 G A rs62636651 NFATC3 Synonymous SNV G272G 0.009 0.01 0.017 3 11 4 0.008 5 1 0 0 0 Benign 3.619 67462 chr15 90195946 90195946 C T rs113881220 KIF7 Synonymous SNV Q72Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 8.834 67463 chr16 71682817 71682817 C T rs144133911 PHLPP2 Synonymous SNV P1249P 0.021 0.018 0.007 9 25 7 0.023 2 0 1 0 0 11.51 67464 chr5 131046287 131046287 G A rs202044208 FNIP1 Synonymous SNV S185S 0 0 0.01 0 0 0 0 3 0 0 0 0 12.85 67465 chr15 90210322 90210322 A C PLIN1 Nonsynonymous SNV W352G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 67466 chr16 69177182 69177182 A G rs771509260 UTP4 Nonsynonymous SNV I127V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.977 67467 chr15 90281381 90281381 T C rs35017767 WDR93 Synonymous SNV C597C 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 0.005 67468 chr16 72822564 72822569 TGCTGC - rs762118795 ZFHX3 Q2289_Q2290del 0.015 0.021 0.01 10 18 8 0.026 3 0 0 0 1 67469 chr15 90293943 90293943 T C rs201582061 MESP1 Nonsynonymous SNV M174V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.01 67470 chr16 70504885 70504885 T C rs17881219 FCSK Synonymous SNV L360L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.562 67471 chr16 70508772 70508772 C A rs574949266 FCSK Synonymous SNV R745R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.81 67472 chr15 65739294 65739294 A G rs764327276 DPP8 Synonymous SNV H759H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.637 67473 chr16 3076909 3076909 A G rs764389709 THOC6 Nonsynonymous SNV K210E 0 0.005 0 0 0 2 0 0 0 0 0 0 19.37 67474 chr15 86940607 86940607 A G rs61998175 AGBL1 Synonymous SNV P795P 0.022 0.01 0.034 6 26 4 0.015 10 0 0 0 0 8.939 67475 chr15 60639874 60639874 G A rs12442554 ANXA2 Synonymous SNV G343G 0.009 0.01 0.003 0 10 4 0 1 0 0 0 0 14.57 67476 chr5 1254594 1254594 C T rs35719940 TERT Nonsynonymous SNV A999T 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.954 67477 chr15 89182726 89182726 C T rs142387462 ISG20 Synonymous SNV I43I 0.014 0.031 0.014 2 16 12 0.005 4 0 0 0 0 Benign 19.07 67478 chr15 68502005 68502005 A G rs766335298 CLN6 Nonsynonymous SNV L212P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.6 67479 chr15 91453860 91453860 C T rs139860103 MAN2A2 Synonymous SNV H569H 0.014 0.013 0.017 12 17 5 0.031 5 0 0 0 0 16.2 67480 chr5 1364242 1364242 C G rs2292024 LINC01511 0 0 0.024 0 0 0 0 7 0 0 0 0 2.173 67481 chr16 71895777 71895777 C T rs9929683 ZNF821 Synonymous SNV P120P 0 0.003 0.014 0 0 1 0 4 0 0 0 0 14.75 67482 chr15 68612677 68612677 G A rs61729760 ITGA11 Nonsynonymous SNV T821M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 23 67483 chr16 71956505 71956505 G A rs72801788 IST1 Synonymous SNV T79T 0.039 0.039 0.041 11 46 15 0.028 12 0 0 0 0 15.67 67484 chr16 31095999 31095999 G A rs138417092 PRSS53 Synonymous SNV P435P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.18 67485 chr16 31106015 31106015 C T rs55894764 VKORC1 Synonymous SNV R12R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 15.25 67486 chr15 89399967 89400023 CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA - ACAN D1390_E1408del 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 67487 chr5 5457541 5457541 A G rs201032155 ICE1 Nonsynonymous SNV Q263R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.336 67488 chr16 72831357 72831357 - TTG rs34918837 ZFHX3 Q827_A828insQ 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 67489 chr15 69548338 69548338 A G rs12440300 GLCE Nonsynonymous SNV M65V 0.017 0.013 0.014 3 20 5 0.008 4 0 0 0 0 0.002 67490 chr16 72991696 72991696 - GCC rs757316139 ZFHX3 A784_N785insA 0.005 0.016 0.003 3 6 6 0.008 1 0 0 0 0 67491 chr16 31342584 31342584 C T rs988032927 ITGAM Synonymous SNV A1125A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 67492 chr16 31471283 31471283 G A rs201280100 ARMC5 Synonymous SNV R146R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 6.901 67493 chr15 72338297 72338297 T C rs374155761 MYO9A Nonsynonymous SNV Y203C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 67494 chr16 81242107 81242107 T C rs143480612 PKD1L2 Nonsynonymous SNV Q250R 0.036 0.042 0.027 15 42 16 0.038 8 1 0 0 2 2.361 67495 chr15 99250921 99250921 C T rs55770488 IGF1R Synonymous SNV F75F 0.012 0.01 0.007 0 14 4 0 2 0 0 0 0 Benign/Likely benign 12.59 67496 chr15 99451976 99451976 G A rs34516635 IGF1R Nonsynonymous SNV R437H 0.012 0.005 0.007 0 14 2 0 2 0 0 0 0 Benign/Likely benign 12.99 67497 chr16 68597030 68597030 C T rs61746929 ZFP90 Nonsynonymous SNV H114Y 0.014 0.016 0.01 7 16 6 0.018 3 0 0 0 0 0.001 67498 chr16 336691 336691 G A rs113159258 PDIA2 Nonsynonymous SNV G460S 0.006 0.016 0.01 3 7 6 0.008 3 0 0 0 0 0.022 67499 chr16 1004565 1004565 G A rs752473648 LMF1 Stop gain Q99X 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 67500 chr15 74276356 74276356 G A rs915568499 STOML1 Synonymous SNV Y323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.311 67501 chr16 81925165 81925165 C G rs746915998 PLCG2 Nonsynonymous SNV S319C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 67502 chr15 90213343 90213343 C A rs111663599 PLIN1 Nonsynonymous SNV V156L 0.034 0.036 0.007 13 40 14 0.033 2 0 0 0 0 Likely benign 12.78 67503 chr16 3440050 3440052 GTA - rs150679689 ZSCAN32 Y25del 0.027 0.034 0.027 9 32 13 0.023 8 0 0 0 0 67504 chr16 70698094 70698094 G A rs77173170 MTSS2 Nonsynonymous SNV A577V 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 24 67505 chr15 90446471 90446471 C T rs35321360 ARPIN, ARPIN-AP3S2 Nonsynonymous SNV D217N 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 23.7 67506 chr15 75498547 75498547 C T rs369809955 C15orf39 Nonsynonymous SNV A53V 0.003 0 0 0 3 0 0 0 0 0 0 0 1.355 67507 chr16 71609856 71609856 C T rs78302875 TAT Synonymous SNV S103S 0.055 0.057 0.071 28 65 22 0.072 21 0 1 0 1 Benign 11.92 67508 chr16 71682830 71682830 C T rs61733124 PHLPP2 Nonsynonymous SNV R1245Q 0.078 0.068 0.092 30 91 26 0.077 27 3 0 0 1 23 67509 chr16 11369696 11369696 C G rs79674436 PRM2 Synonymous SNV V138V 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 4.081 67510 chr15 75641315 75641315 - GGCA rs528340029 NEIL1 Frameshift insertion G111Rfs*14 0.004 0 0 2 5 0 0.005 0 0 0 0 0 67511 chr15 75967993 75967993 C T rs144719140 CSPG4 Synonymous SNV V2289V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.839 67512 chr15 90801410 90801410 C T TTLL13P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.2 67513 chr15 42363494 42363494 G A rs200157738 PLA2G4D Nonsynonymous SNV S568L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 6.741 67514 chr16 12009531 12009539 CCGCCGCCG - rs749531224 GSPT1 G14_G16del 0.003 0.005 0.041 3 4 2 0.008 12 0 0 0 0 67515 chr5 140764218 140764218 C T rs138410124 PCDHGA7 Synonymous SNV P584P 0.02 0.023 0.031 3 24 9 0.008 9 0 0 0 0 11.03 67516 chr5 140773111 140773111 A G rs72790032 PCDHGA8 Nonsynonymous SNV H244R 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 1.129 67517 chr15 91449654 91449654 T C rs2072077 MAN2A2 Synonymous SNV D254D 0.049 0.044 0.037 18 57 17 0.046 11 1 0 1 1 4.586 67518 chr15 91449702 91449702 A T rs12594307 MAN2A2 Synonymous SNV G270G 0.049 0.044 0.037 18 57 17 0.046 11 1 0 1 1 4.275 67519 chr5 140856349 140856349 A G rs115808055 PCDHGC3 Synonymous SNV P222P 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 0.005 67520 chr5 140857222 140857222 T C rs138608867 PCDHGC3 Synonymous SNV N513N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.061 67521 chr5 140864784 140864784 C T rs138463062 PCDHGC4 Nonsynonymous SNV A15V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 16.73 67522 chr15 91474511 91474511 - GTC rs554761360 HDDC3 T178_I179insT 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 67523 chr16 1252114 1252114 C T rs9924241 CACNA1H Nonsynonymous SNV A555V 0.01 0.005 0.003 4 12 2 0.01 1 0 0 0 0 Benign 0.828 67524 chr5 140867152 140867152 C T rs114918874 PCDHGC4 Synonymous SNV C804C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 4.392 67525 chr16 81939089 81939089 T C rs187956469 PLCG2 Nonsynonymous SNV Y482H 0.006 0.008 0.003 5 7 3 0.013 1 0 0 0 0 Benign 14.1 67526 chr15 74468342 74468342 G A rs143035066 ISLR Synonymous SNV P381P 0.01 0.003 0.007 2 12 1 0.005 2 0 0 0 0 3.014 67527 chr5 141030640 141030640 C T rs17287002 FCHSD1 Synonymous SNV L22L 0.025 0.034 0.044 5 29 13 0.013 13 0 0 1 0 16.01 67528 chr5 141033870 141033870 T G rs61749636 ARAP3 Nonsynonymous SNV T1428P 0.025 0.034 0.044 5 29 13 0.013 13 0 0 1 0 0.314 67529 chr16 839213 839213 C G rs373985359 CHTF18 Nonsynonymous SNV P97R 0 0.005 0 0 0 2 0 0 0 0 0 0 15.26 67530 chr16 7629790 7629790 C T rs145861898 RBFOX1 Synonymous SNV D114D 0.007 0.016 0.003 4 8 6 0.01 1 0 0 0 0 Benign 12.03 67531 chr16 839315 839315 C G CHTF18 Nonsynonymous SNV T131S 0 0.005 0 0 0 2 0 0 0 0 0 0 23 67532 chr16 76555182 76555182 T C rs759061325 CNTNAP4 Synonymous SNV A708A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.853 67533 chr16 77225440 77225440 G T rs35193130 MON1B Nonsynonymous SNV D20Y 0.009 0.016 0.01 3 11 6 0.008 3 0 0 0 0 23.1 67534 chr16 87637876 87637876 C T rs958949069 JPH3 Nonsynonymous SNV P138L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.802 67535 chr16 77327005 77327005 G A rs148703569 ADAMTS18 Nonsynonymous SNV R881W 0.015 0.018 0.007 4 18 7 0.01 2 0 0 0 0 Benign 28.1 67536 chr5 36677065 36677065 G A rs956027251 SLC1A3 Synonymous SNV V167V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.35 67537 chr16 84209899 84209899 - CTC rs776738547 DNAAF1 P452_V453insP 0.004 0.005 0 0 5 2 0 0 0 0 0 0 67538 chr16 77331235 77331235 T C rs138435590 ADAMTS18 Nonsynonymous SNV K746E 0.008 0.016 0 1 9 6 0.003 0 0 0 0 0 Uncertain significance 24.4 67539 chr16 87724002 87724002 C G JPH3 Nonsynonymous SNV A679G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 67540 chr5 14715140 14715140 A G rs10491477 LOC100130744 0 0 0.095 0 0 0 0 28 0 0 0 0 3.546 67541 chr5 147207616 147207616 G A rs111966833 SPINK1 Nonsynonymous SNV P55S 0.003 0.003 0.02 1 4 1 0.003 6 0 0 0 0 Benign/Likely benign 0.001 67542 chr5 38919438 38919438 T C rs942986569 OSMR Nonsynonymous SNV V572A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.287 67543 chr16 50334647 50334647 C T rs146454678 ADCY7 Synonymous SNV G366G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.82 67544 chr5 40841741 40841741 C T rs10512747 CARD6 Nonsynonymous SNV S86L 0.094 0.078 0.122 33 110 30 0.085 36 7 1 5 1 28.4 67545 chr16 50338434 50338434 C T rs149550185 ADCY7 Nonsynonymous SNV T511I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.574 67546 chr16 781614 781614 G A rs748521268 CIAO3 Stop gain R329X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 67547 chr5 40853539 40853539 T C rs746637092 CARD6 Nonsynonymous SNV I702T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.221 67548 chr16 15711335 15711335 G A rs62036917 MARF1 Synonymous SNV I926I 0.058 0.07 0.048 24 68 27 0.062 14 1 1 0 0 10.73 67549 chr16 112592 112592 C T rs747791150 RHBDF1 Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 67550 chr16 15818842 15818842 A G rs16967510 MYH11 Nonsynonymous SNV V1289A 0.058 0.073 0.041 30 68 28 0.077 12 1 0 0 2 Benign/Likely benign 19.42 67551 chr16 15842023 15842023 G A rs880071 MYH11 Synonymous SNV S687S 0.065 0.076 0.048 28 76 29 0.072 14 1 0 0 0 Benign 0.015 67552 chr16 53691469 53691469 G A rs775563304 RPGRIP1L Nonsynonymous SNV R493C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.69 67553 chr15 52476784 52476784 A G rs756678877 GNB5 Synonymous SNV S30S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 6.712 67554 chr16 53878082 53878082 G A rs144743617 FTO Nonsynonymous SNV S230N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.45 67555 chr5 43246074 43246074 C T rs200164841 NIM1K Nonsynonymous SNV T66M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 67556 chr16 56660816 56660816 G A rs72818417 MT1E Nonsynonymous SNV G40D 0.049 0.055 0.054 10 58 21 0.026 16 0 0 1 0 24.6 67557 chr16 84103572 84103572 C T rs144900691 MBTPS1 Synonymous SNV P618P 0.011 0.013 0.003 3 13 5 0.008 1 0 0 0 0 14.79 67558 chr16 84132699 84132699 G C rs142980972 MBTPS1 Nonsynonymous SNV T127R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.8 67559 chr16 19126470 19126470 C T rs116496443 ITPRIPL2 Synonymous SNV C229C 0.009 0.013 0.014 13 11 5 0.033 4 0 0 0 0 10.95 67560 chr16 1270649 1270649 C T rs143733790 CACNA1H Synonymous SNV G2233G 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 10.21 67561 chr16 57060346 57060346 C G rs776285468 NLRC5 Nonsynonymous SNV F497L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 67562 chr16 19297209 19297209 G A rs988457289 CLEC19A Synonymous SNV L12L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.833 67563 chr16 57060347 57060347 T G rs759296797 NLRC5 Nonsynonymous SNV C498G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 67564 chr16 84199397 84199397 C T rs745857720 DNAAF1 Nonsynonymous SNV A39V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 29.4 67565 chr16 89017483 89017483 C G rs200170070 LOC100129697 Synonymous SNV P319P 0.018 0.036 0.017 12 21 14 0.031 5 0 0 0 0 1.987 67566 chr16 89017553 89017556 CCCT - LOC100129697 P343Gfs*83 0.008 0.018 0.02 5 9 7 0.013 6 0 0 0 0 67567 chr16 1995870 1995870 G C rs147948209 RPL3L Nonsynonymous SNV A338G 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 6.651 67568 chr16 89017558 89017620 GATCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCC - LOC100129697 W344_P365delinsC 0.008 0.018 0.02 5 9 7 0.013 6 0 0 0 0 67569 chr5 150632832 150632832 G A rs1048719 GM2A Nonsynonymous SNV A19T 0.025 0.034 0.027 16 29 13 0.041 8 0 0 0 1 Benign 12.42 67570 chr15 85407698 85407698 C T rs776900526 ALPK3 Nonsynonymous SNV R1509W 0.003 0 0 3 4 0 0.008 0 0 0 0 0 35 67571 chr16 2052641 2052641 G A rs35192252 ZNF598 Synonymous SNV H186H 0.011 0.008 0 9 13 3 0.023 0 0 0 0 0 7.462 67572 chr16 84494208 84494208 C T rs200601804 ATP2C2-AS1 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 5.681 67573 chr16 20966168 20966168 C A rs142557616 DNAH3 Nonsynonymous SNV V3634F 0.017 0.01 0.007 6 20 4 0.015 2 0 0 0 0 26.1 67574 chr15 89169738 89169738 G A rs147477549 AEN Nonsynonymous SNV G100R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.022 67575 chr16 20990671 20990671 A C rs139609202 DNAH3 Nonsynonymous SNV L2640R 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 28.4 67576 chr5 64905256 64905256 T C rs17240173 TRIM23 Synonymous SNV S286S 0.005 0 0.014 4 6 0 0.01 4 0 0 0 0 9.972 67577 chr5 153975576 153975576 G A rs936581 MIR3141 0 0 0.153 0 0 0 0 45 0 0 5 0 1.011 67578 chr16 21995958 21995958 G A PDZD9 Nonsynonymous SNV A82V 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 14.94 67579 chr16 22019729 22019729 - AGCAC rs780642452 MOSMO 0.003 0 0 0 3 0 0 0 0 0 0 0 67580 chr5 154278839 154278839 G A rs61749643 GEMIN5 Nonsynonymous SNV R1015C 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 Uncertain significance 34 67581 chr16 22019730 22019730 - CACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGA rs776782299 MOSMO 0.001 0 0 0 1 0 0 0 0 0 0 0 67582 chr15 64005722 64005722 A G rs61749474 HERC1 Synonymous SNV L1431L 0.025 0.034 0.048 13 29 13 0.033 14 0 1 2 0 11.13 67583 chr16 22144330 22144330 G A rs193072842 VWA3A Nonsynonymous SNV R661H 0.01 0.016 0.01 3 12 6 0.008 3 0 0 0 0 23.1 67584 chr16 85139013 85139013 C T rs749367892 FAM92B Nonsynonymous SNV A153T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 67585 chr16 1634419 1634419 C T IFT140 Stop gain W386X 0.006 0 0 0 7 0 0 0 0 0 0 0 39 67586 chr16 602430 602430 C T rs148358614 CAPN15 Synonymous SNV F879F 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.05 67587 chr16 1817855 1817855 C T rs118038816 MAPK8IP3 Synonymous SNV V1146V 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 Benign 11 67588 chr16 1840853 1840853 C T rs2230053 IGFALS Synonymous SNV T560T 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Benign 7.247 67589 chr15 89861826 89861826 T C rs2307441 POLG Nonsynonymous SNV E1143G 0.028 0.021 0.017 6 33 8 0.015 5 2 1 0 0 Benign/Likely benign 18.74 67590 chr5 157214828 157214828 A T rs190825502 CLINT1 Nonsynonymous SNV N586K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.055 67591 chr16 66503705 66503705 C T rs200706119 BEAN1 Nonsynonymous SNV R76C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 67592 chr16 23079406 23079406 G C USP31 Nonsynonymous SNV S1340R 0.009 0.013 0 4 10 5 0.01 0 0 0 0 0 26.1 67593 chr16 66527192 66527192 G A rs58468753 BEAN1 Nonsynonymous SNV G159R 0.052 0.055 0.095 22 61 21 0.056 28 3 0 2 2 0.947 67594 chr15 65916727 65916727 A G rs375495390 SLC24A1 Synonymous SNV T103T 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 Uncertain significance 0.005 67595 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGG MYH3 Stop gain G203Hfs*25 0.015 0.021 0 4 18 8 0.01 0 0 0 0 0 67596 chr17 10608518 10608518 T G rs34940296 ADPRM Nonsynonymous SNV L92R 0.041 0.047 0.058 22 48 18 0.056 17 0 1 0 0 0.28 67597 chr16 23360165 23360165 C G rs35731153 SCNN1B Nonsynonymous SNV S82C 0.01 0.005 0.007 3 12 2 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 67598 chr16 88931491 88931491 G A rs148432784 PABPN1L Nonsynonymous SNV R169C 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 0.326 67599 chr16 19471571 19471571 G A rs36019638 TMC5 Nonsynonymous SNV A109T 0.03 0.026 0.034 9 35 10 0.023 10 0 0 1 0 19.29 67600 chr17 1132584 1132584 C T rs75816908 ABR Nonsynonymous SNV G114E 0.032 0.021 0 22 37 8 0.056 0 3 1 0 2 Benign 8.699 67601 chr16 19498565 19498565 A G rs34170384 TMC5 Synonymous SNV S584S 0.033 0.026 0.034 9 39 10 0.023 10 0 0 1 0 11.83 67602 chr15 66996307 66996307 C T rs144415105 SMAD6 Synonymous SNV H237H 0.009 0.005 0 3 10 2 0.008 0 1 0 0 0 Benign 15.36 67603 chr16 67229793 67229793 - CAG rs764449327 E2F4 S319_N320insS 0.023 0.023 0.024 17 27 9 0.044 7 0 0 0 0 67604 chr16 24583713 24583718 AAAGAG - rs148143334 RBBP6 E1747_K1748del 0.056 0.047 0.007 34 66 18 0.087 2 4 1 0 2 67605 chr16 67237668 67237668 A G rs200503282 ELMO3 Nonsynonymous SNV K684R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.2 67606 chr16 89265485 89265485 C T rs193205099 SLC22A31 Nonsynonymous SNV R115H 0.012 0.016 0 0 14 6 0 0 0 0 0 0 8.483 67607 chr17 1183612 1183612 T C rs72816260 TRARG1 Nonsynonymous SNV I106T 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 25 67608 chr17 11896026 11896026 G A rs747075784 ZNF18 Nonsynonymous SNV R41C 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 26.9 67609 chr16 24902299 24902299 C G rs35993597 SLC5A11 Nonsynonymous SNV F188L 0.009 0.005 0.01 6 10 2 0.015 3 0 0 0 1 24.3 67610 chr15 91503672 91503672 T C rs150144745 RCCD1 Nonsynonymous SNV M298T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 0.006 67611 chr16 67876980 67876980 C G rs139987005 THAP11 Nonsynonymous SNV P175A 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.002 67612 chr16 88782029 88782029 G C rs559557496 PIEZO1 Nonsynonymous SNV T2517S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.9 67613 chr16 89799804 89799804 A C rs76023376 ZNF276 Nonsynonymous SNV K422Q 0.015 0.034 0.01 1 18 13 0.003 3 0 1 0 0 4.923 67614 chr5 169174484 169174484 A G rs13155521 DOCK2 Synonymous SNV Q784Q 0.028 0.021 0.037 15 33 8 0.038 11 0 1 0 1 Benign 6.575 67615 chr5 75886292 75886292 G A rs147531108 IQGAP2 Nonsynonymous SNV V184I 0.018 0.01 0.01 5 21 4 0.013 3 0 0 0 1 Benign 10.43 67616 chr15 91500886 91500886 T G rs745640782 RCCD1 Nonsynonymous SNV L204V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 67617 chr5 170215638 170215638 T C rs10036156 GABRP Synonymous SNV L7L 0.063 0.044 0.085 21 74 17 0.054 25 0 1 1 1 4.032 67618 chr16 2880745 2880745 G A rs34779825 ZG16B Nonsynonymous SNV D71N 0.013 0.013 0.007 3 15 5 0.008 2 0 0 0 0 0.003 67619 chr5 170215670 170215670 G A rs7725726 GABRP Synonymous SNV E17E 0.063 0.042 0.085 21 74 16 0.054 25 0 1 1 1 4.209 67620 chr16 68321726 68321726 G A rs546003282 SLC7A6 Nonsynonymous SNV V201I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 17.01 67621 chr5 172395581 172395581 C T rs17075427 RPL26L1 Synonymous SNV H96H 0.04 0.042 0.071 9 47 16 0.023 21 1 0 0 0 10.27 67622 chr5 172447762 172447762 G A rs17075508 SNORA74B 0 0 0.146 0 0 0 0 43 0 0 3 0 11.37 67623 chr15 73075699 73075699 G A rs117883140 ADPGK-AS1 0.009 0.005 0 6 10 2 0.015 0 1 0 0 0 12.43 67624 chr5 175110779 175110779 G A rs1800689 HRH2 Synonymous SNV V181V 0.054 0.042 0.082 19 63 16 0.049 24 0 1 0 2 7.174 67625 chr5 76344787 76344787 G A rs762299495 AGGF1 Nonsynonymous SNV R447Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 67626 chr15 99512790 99512790 G A rs201945671 PGPEP1L Nonsynonymous SNV R79C 0.003 0 0 0 3 0 0 0 0 0 0 0 19.2 67627 chr15 94983416 94983416 C A rs117414141 MCTP2 Synonymous SNV I699I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 16.15 67628 chr5 176308113 176308113 G A rs61745231 HK3 Synonymous SNV T911T 0.024 0.021 0.041 8 28 8 0.021 12 0 0 0 0 0.033 67629 chr16 3042912 3042912 C A rs72770878 LINC00514 0.026 0.016 0 8 30 6 0.021 0 1 0 0 0 4.01 67630 chr16 89017617 89017617 G C rs71395351 LOC100129697 Nonsynonymous SNV R364P 0.014 0.016 0.017 9 16 6 0.023 5 0 0 0 0 0.525 67631 chr17 10614245 10614245 G C rs752410674 ADPRM Synonymous SNV V271V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.685 67632 chr15 74710305 74710305 G A rs28362914 SEMA7A Synonymous SNV C112C 0.037 0.026 0.044 11 43 10 0.028 13 0 0 1 0 11.34 67633 chr16 69783156 69783157 TT - rs780914169 NOB1 N162Pfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 67634 chr17 11543610 11543610 A G rs61740059 DNAH9 Nonsynonymous SNV M604V 0.029 0.039 0.061 4 34 15 0.01 18 1 0 1 0 Benign 22.9 67635 chr5 79029762 79029762 C T rs17254174 CMYA5 Nonsynonymous SNV S1725L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 15.62 67636 chr5 79032283 79032283 C T rs141532983 CMYA5 Synonymous SNV A2565A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.65 67637 chr16 89264619 89264619 G A rs575460192 SLC22A31 Nonsynonymous SNV T260M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.12 67638 chr16 3100129 3100129 C T rs149856253 MMP25 Stop gain R118X 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 37 67639 chr16 70546288 70546288 G A rs118183032 COG4 Nonsynonymous SNV R194C 0.011 0.013 0.02 1 13 5 0.003 6 0 0 0 0 Likely benign 25.8 67640 chr16 2817788 2817788 C T rs150813518 SRRM2 Nonsynonymous SNV T2420I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.07 67641 chr17 17070822 17070822 G A MPRIP Nonsynonymous SNV V2005I 0.009 0.01 0 9 11 4 0.023 0 0 0 0 0 17.64 67642 chr16 1129441 1129441 G A rs34608001 SSTR5 Synonymous SNV P191P 0.015 0.026 0.061 11 18 10 0.028 18 0 0 0 1 2.11 67643 chr16 31092760 31092760 G A rs146321958 ZNF646 Synonymous SNV P1705P 0.01 0.008 0 0 12 3 0 0 0 0 0 0 0.53 67644 chr5 178634657 178634657 C T rs143764421 ADAMTS2 Nonsynonymous SNV A250T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.053 67645 chr16 1144744 1144744 C T rs140271892 C1QTNF8 Nonsynonymous SNV R60Q 0.003 0.008 0 0 4 3 0 0 0 0 0 0 10.12 67646 chr16 30100477 30100477 G A rs149724027 TBX6 Synonymous SNV R136R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.446 67647 chr16 3165287 3165287 A T rs61251843 ZNF205-AS1 0.03 0.018 0.014 13 35 7 0.033 4 1 0 0 0 1.804 67648 chr17 1674434 1674434 C G rs1804145 SERPINF1 Nonsynonymous SNV P132R 0.044 0.034 0.037 16 52 13 0.041 11 1 1 0 1 Benign 22 67649 chr16 1251903 1251903 C T rs765665281 CACNA1H Nonsynonymous SNV R485C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Uncertain significance 33 67650 chr16 3361884 3361884 C T rs2240024 ZNF75A Synonymous SNV Y180Y 0.014 0.021 0 6 17 8 0.015 0 0 0 0 0 17.43 67651 chr16 336731 336731 G A rs116969376 PDIA2 Nonsynonymous SNV R473Q 0.014 0.008 0.014 6 16 3 0.015 4 0 0 0 0 23 67652 chr5 180622248 180622248 G A rs182296467 TRIM7 Nonsynonymous SNV T303I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 67653 chr15 84700108 84700108 C T rs35633782 ADAMTSL3 Nonsynonymous SNV R1560C 0.003 0.01 0.014 8 4 4 0.021 4 0 0 0 0 Benign 25 67654 chr16 15841773 15841773 G A rs12931799 MYH11 Synonymous SNV I736I 0.034 0.044 0.054 11 40 17 0.028 16 1 0 0 0 Benign 12.54 67655 chr16 321080 321080 C A rs9806961 RGS11 Nonsynonymous SNV K110N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 67656 chr15 85400780 85400780 C G rs35621845 ALPK3 Synonymous SNV A937A 0.011 0.016 0.01 3 13 6 0.008 3 0 0 0 0 Benign 8.173 67657 chr5 95297342 95297342 G A rs766830868 ELL2 Synonymous SNV T28T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.16 67658 chr17 19290122 19290122 - AGC rs536562220 MFAP4 L37_S38insL 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 67659 chr16 77468360 77468360 C T rs199523966 ADAMTS18 Nonsynonymous SNV A45T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 25.6 67660 chr16 1706365 1706365 G A rs371446549 CRAMP1 Nonsynonymous SNV R536Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.003 67661 chr16 3406185 3406185 T C rs149625259 OR2C1 Nonsynonymous SNV L82P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.3 67662 chr16 3433574 3433574 C T rs150936647 ZSCAN32 Nonsynonymous SNV E169K 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 15.11 67663 chr16 80574742 80574742 C A rs77394452 DYNLRB2 Synonymous SNV G27G 0.026 0.021 0.031 17 30 8 0.044 9 0 0 0 1 7.68 67664 chr16 1841388 1841388 G A rs775129479 IGFALS Nonsynonymous SNV T382M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.51 67665 chr16 4751025 4751025 G A rs144928887 ANKS3 Synonymous SNV G237G 0.008 0.003 0.014 1 9 1 0.003 4 0 0 0 0 4.896 67666 chr16 348021 348021 G C rs146947903 AXIN1 Nonsynonymous SNV D495E 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Benign 3.149 67667 chr5 98106245 98106245 C A rs58631862 RGMB-AS1 0.03 0.036 0.061 8 35 14 0.021 18 0 0 0 0 10.35 67668 chr5 38425177 38425177 G T EGFLAM Nonsynonymous SNV G364V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 67669 chr16 47533770 47533770 C T rs139431568 PHKB Synonymous SNV C90C 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.06 67670 chr5 38496531 38496531 A G rs772026858 LIFR Nonsynonymous SNV V613A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 67671 chr16 4790446 4790446 C T rs35599524 C16orf71 Nonsynonymous SNV S190L 0.015 0.013 0.031 5 18 5 0.013 9 0 0 0 0 1.657 67672 chr16 3598190 3598190 C T rs200989243 NLRC3 Nonsynonymous SNV A906T 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 33 67673 chr16 4797356 4797356 G A rs118086912 C16orf71 Synonymous SNV G431G 0.018 0.008 0.024 3 21 3 0.008 7 0 0 1 0 0.082 67674 chr15 89011232 89011232 G T rs61741121 MRPS11 Synonymous SNV A52A 0.009 0.003 0.014 2 11 1 0.005 4 0 0 0 0 8.273 67675 chr17 1686390 1686390 C T rs199668753 SMYD4 Nonsynonymous SNV G734R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 67676 chr17 17398768 17398768 A G RASD1 Nonsynonymous SNV Y173H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 67677 chr16 20693663 20693663 C G rs61740631 ACSM1 Nonsynonymous SNV A176P 0.024 0.021 0.024 11 28 8 0.028 7 1 0 1 0 23.8 67678 chr16 4431315 4431315 C T rs144719357 VASN Nonsynonymous SNV T146M 0.009 0 0 3 10 0 0.008 0 0 0 0 0 22.9 67679 chr17 18025317 18025317 G T rs189061214 MYO15A Nonsynonymous SNV C1068F 0.008 0.01 0 4 9 4 0.01 0 1 0 0 0 Conflicting interpretations of pathogenicity 14.78 67680 chr16 5046357 5046357 C T rs144847645 SEC14L5 Synonymous SNV L226L 0.007 0 0.003 7 8 0 0.018 1 0 0 0 0 8.434 67681 chr16 21261156 21261156 A G rs778804642 ANKS4B Nonsynonymous SNV N90S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 67682 chr17 2595062 2595062 G A CLUH Nonsynonymous SNV P1261L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 67683 chr5 52218694 52218694 C T rs61748764 ITGA1 Synonymous SNV L794L 0.014 0.013 0.017 3 16 5 0.008 5 0 0 0 0 14.76 67684 chr16 22019729 22019729 - AGCACTCAC rs780642452 MOSMO 0.014 0.01 0.007 6 17 4 0.015 2 0 0 0 0 67685 chr16 21655690 21655690 C T rs555594311 IGSF6 Nonsynonymous SNV R152Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.141 67686 chr17 1961863 1961863 C T rs188260013 HIC1 Nonsynonymous SNV P646S 0.006 0.016 0.007 5 7 6 0.013 2 0 0 0 0 12.35 67687 chr17 26818480 26818480 G A rs782356716 SLC13A2 Synonymous SNV T249T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.315 67688 chr16 55727958 55727958 T C rs1805068 SLC6A2 Synonymous SNV L214L 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 Likely benign 0.722 67689 chr16 84270743 84270743 G A rs3803641 KCNG4 Nonsynonymous SNV P117S 0.015 0.005 0.02 2 18 2 0.005 6 0 0 0 0 24.4 67690 chr5 54826408 54826408 C G rs12513672 RNF138P1 0 0 0.782 0 0 0 0 230 0 0 99 0 14.46 67691 chr5 121488203 121488203 G A rs2560306 ZNF474 Nonsynonymous SNV R173H 0.042 0.047 0.031 16 49 18 0.041 9 2 0 1 0 16.15 67692 chr5 121488636 121488636 T - rs3217313 ZNF474 Stop gain L318* 0.041 0.047 0.037 18 48 18 0.046 11 2 0 1 0 67693 chr17 2600186 2600186 G A rs11078312 CLUH Nonsynonymous SNV A671V 0.087 0.089 0.075 27 102 34 0.069 22 4 0 2 1 Benign 22.9 67694 chr5 56177591 56177591 G A rs375893442 MAP3K1 Nonsynonymous SNV R855H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 67695 chr16 56855497 56855497 G A rs777022774 NUP93 Nonsynonymous SNV D93N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 67696 chr17 28384757 28384757 A G rs776472035 EFCAB5 Nonsynonymous SNV N754S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.95 67697 chr5 126869350 126869350 A C PRRC1 Nonsynonymous SNV N265H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 67698 chr17 28548810 28548810 C G rs6355 SLC6A4 Nonsynonymous SNV G56A 0.009 0.016 0.01 0 10 6 0 3 0 0 0 0 9.169 67699 chr16 2510363 2510363 C T rs372760473 TEDC2 Nonsynonymous SNV R36C 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 27 67700 chr16 25703759 25703759 - CCTCCG HS3ST4 P16_L17insPP 0.002 0 0 0 2 0 0 0 0 0 0 0 67701 chr17 26962431 26962431 G A rs146809533 KIAA0100 Nonsynonymous SNV P582L 0.013 0.01 0.003 5 15 4 0.013 1 0 0 0 0 Benign 9.556 67702 chr16 846999 846999 G A rs140737412 CHTF18 Synonymous SNV G880G 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 3.754 67703 chr16 57693498 57693498 T C rs17379472 ADGRG1 Nonsynonymous SNV M492T 0.014 0.01 0.014 2 16 4 0.005 4 0 0 0 0 Benign/Likely benign 26.7 67704 chr17 27075334 27075334 G A rs35932778 TRAF4 Nonsynonymous SNV A173T 0.013 0.01 0.003 5 15 4 0.013 1 0 0 0 0 Benign 23.3 67705 chr5 131647925 131647925 C T rs11568511 SLC22A4 Synonymous SNV L155L 0.01 0 0.007 0 12 0 0 2 0 0 0 0 Benign 9.532 67706 chr17 27401009 27401009 C T rs139924670 TIAF1 Nonsynonymous SNV R70H 0.007 0.016 0 3 8 6 0.008 0 0 0 0 0 16.76 67707 chr16 2835579 2835579 G A rs7202954 PRSS33 Nonsynonymous SNV T104M 0.013 0.005 0 1 15 2 0.003 0 0 0 0 0 15.52 67708 chr16 86588355 86588355 C T MTHFSD, MTHFSD Nonsynonymous SNV G7S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 67709 chr5 70798553 70798553 A T rs34588160 BDP1 Nonsynonymous SNV I726L 0.014 0.013 0.027 7 16 5 0.018 8 0 0 0 1 Likely benign 0.003 67710 chr16 2867450 2867450 G C rs71386691 PRSS21 Synonymous SNV P28P 0.056 0.063 0.18 11 66 24 0.028 53 32 12 22 5 7.292 67711 chr17 27493950 27493950 G A rs34478330 MYO18A Synonymous SNV N3N 0.025 0.047 0.017 6 29 18 0.015 5 0 0 1 0 Benign 6.137 67712 chr16 58437059 58437059 C T rs571698877 GINS3 Nonsynonymous SNV R82W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 67713 chr16 613853 613853 G A rs372489587 PRR35 Nonsynonymous SNV V187I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 67714 chr16 87782396 87782396 C A rs34779002 KLHDC4 Nonsynonymous SNV G73V 0.055 0.057 0.085 18 64 22 0.046 25 1 0 1 0 27.5 67715 chr16 87788836 87788836 G A rs17699859 KLHDC4 Synonymous SNV D54D 0.054 0.057 0.085 17 63 22 0.044 25 1 0 1 0 9.42 67716 chr16 56717075 56717075 A T rs112485803 MT1X 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16.89 67717 chr17 28410008 28410008 A G rs193065340 EFCAB5 Nonsynonymous SNV T1176A 0.011 0.018 0.003 6 13 7 0.015 1 0 0 0 0 0.025 67718 chr16 27761487 27761487 A C KIAA0556 Nonsynonymous SNV H1069P 0.003 0 0 0 3 0 0 0 0 0 0 0 20.5 67719 chr16 87795580 87795580 G C rs2303772 KLHDC4 Nonsynonymous SNV L56V 0.054 0.057 0.075 17 63 22 0.044 22 1 0 0 0 0.002 67720 chr16 29994398 29994398 C T rs55903157 TAOK2 Synonymous SNV A335A 0.013 0.016 0.017 5 15 6 0.013 5 0 1 0 0 7.263 67721 chr17 3352257 3352257 G A rs35561131 SPATA22 Synonymous SNV T129T 0.036 0.042 0.034 11 42 16 0.028 10 2 1 0 0 2.699 67722 chr16 3023061 3023061 C T PKMYT1 Nonsynonymous SNV A396T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 67723 chr5 136328219 136328219 A G rs148174059 SPOCK1 Synonymous SNV D220D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.733 67724 chr16 1032069 1032069 G T rs754927273 SOX8 Synonymous SNV V49V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.817 67725 chr16 1032188 1032190 GCG - rs753429069 SOX8 G94del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 67726 chr16 67400940 67400940 C T rs77430254 LRRC36 Nonsynonymous SNV R138C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 24.9 67727 chr5 73109488 73109488 G A rs143394331 ARHGEF28 Synonymous SNV T25T 0.01 0.003 0.01 0 12 1 0 3 0 0 0 0 6.894 67728 chr16 30567312 30567312 G A rs138651281 ZNF764 Nonsynonymous SNV P143S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 67729 chr5 73190312 73190312 C T rs146562116 ARHGEF28 Synonymous SNV D938D 0.011 0.003 0.01 1 13 1 0.003 3 0 0 0 0 Benign 14.72 67730 chr16 28845892 28845892 G A rs7499664 ATXN2L Nonsynonymous SNV A777T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 33 67731 chr5 138147943 138147943 A C rs11552054 CTNNA1 Synonymous SNV L77L 0.04 0.036 0.037 18 47 14 0.046 11 1 0 0 0 Benign 1 67732 chr16 3080972 3080972 G A rs778969705 BICDL2 Synonymous SNV S154S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 3.735 67733 chr16 3080997 3080997 C T rs202141775 BICDL2 Nonsynonymous SNV R146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 67734 chr16 1129466 1129466 G A rs143272280 SSTR5 Nonsynonymous SNV V200I 0 0 0 2 0 0 0.005 0 0 0 0 0 9.052 67735 chr16 58220721 58220721 G C CSNK2A2 Nonsynonymous SNV L86V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.8 67736 chr16 58713983 58713983 G A rs42943 SLC38A7 Synonymous SNV S16S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 4.739 67737 chr16 2987279 2987279 G T rs61747750 FLYWCH1 Synonymous SNV R557R 0.032 0.031 0.017 16 38 12 0.041 5 0 0 0 0 8.156 67738 chr16 11645577 11645580 ACTC - LITAF *153delinsYLGPQVHSGLLLHPLLRGCPAGRGPLLSQLQSSPGHLQAFVGLSQTWREPGAAGSPFHLSSSFTPGGGSALVVSPLQGAHLHVFFWGEYVAKLTNLQTPEIAAWSRA* 0.003 0 0 2 3 0 0.005 0 0 0 0 0 67739 chr17 35470031 35470031 T G rs55811414 ACACA Synonymous SNV R2053R 0.014 0.026 0.007 4 16 10 0.01 2 0 0 0 0 Benign 9.752 67740 chr5 139422531 139422531 - GCT NRG2 S41_E42insS 0.003 0 0 1 3 0 0.003 0 0 0 0 0 67741 chr16 11781741 11781741 G C rs79362431 TXNDC11 Nonsynonymous SNV L257V 0.008 0.003 0.014 5 9 1 0.013 4 0 0 0 0 Likely benign 25 67742 chr16 66584163 66584163 A G rs759093373 TK2 Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.581 67743 chr16 67229793 67229793 - CAGCAGCAGCAGCAG E2F4 S319_N320insSSSSS 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 67744 chr16 88908306 88908306 G A rs34278797 GALNS Synonymous SNV N106N 0.029 0.018 0.034 12 34 7 0.031 10 1 0 0 0 Benign 12.17 67745 chr16 89017232 89017232 C T rs201924010 LOC100129697 Nonsynonymous SNV R236C 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 13.29 67746 chr17 34072529 34072529 G A rs141500997 GAS2L2 Nonsynonymous SNV P663S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.8 67747 chr5 140168088 140168088 C T rs13176401 PCDHA1 Nonsynonymous SNV T738I 0.02 0.029 0.003 3 23 11 0.008 1 0 0 0 0 0.06 67748 chr16 89017433 89017433 C T rs138490381 LOC100129697 Nonsynonymous SNV R303W 0.016 0.018 0.014 6 19 7 0.015 4 0 0 0 0 14.54 67749 chr16 68021520 68021520 T C DPEP2 Nonsynonymous SNV I292M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 67750 chr17 29162212 29162212 T G rs78909753 ATAD5 Synonymous SNV V371V 0.025 0.021 0.027 4 29 8 0.01 8 0 0 0 0 1.088 67751 chr16 71674405 71674405 T A rs72799852 MARVELD3 Nonsynonymous SNV F236L 0.009 0.01 0.01 5 11 4 0.013 3 0 0 0 0 16.51 67752 chr16 3108904 3108904 C T rs200461438 MMP25 Synonymous SNV P498P 0.014 0.008 0 3 16 3 0.008 0 0 0 0 0 12.48 67753 chr16 13002387 13002387 C T rs72782632 SHISA9 Synonymous SNV D205D 0.051 0.049 0.037 26 60 19 0.067 11 0 0 0 0 3.857 67754 chr17 30185811 30185811 - GA COPRS Frameshift insertion P10Lfs*35 0.003 0.003 0 0 3 1 0 0 0 0 0 0 67755 chr17 30185813 30185813 - CA COPRS Frameshift insertion E9Dfs*36 0.003 0.003 0 0 3 1 0 0 0 0 0 0 67756 chr16 3340106 3340106 G A rs34236132 ZNF263 Nonsynonymous SNV V534I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.64 67757 chr17 30185814 30185814 T G COPRS Nonsynonymous SNV E9A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.52 67758 chr5 79950709 79950717 GCAGCGGCC - rs770462221 MSH3 A60_A62del 0.008 0.018 0.017 5 9 7 0.013 5 0 0 0 0 67759 chr17 31087339 31087339 T G MYO1D Nonsynonymous SNV E422A 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 67760 chr5 80641789 80641789 C T rs34607174 ACOT12 Nonsynonymous SNV V230I 0.03 0.016 0.034 8 35 6 0.021 10 1 0 1 0 16.8 67761 chr16 701043 701043 G A rs377545394 WDR90 Nonsynonymous SNV R203Q 0.008 0 0 1 9 0 0.003 0 0 0 0 0 29.8 67762 chr16 1488052 1488052 A C rs200441064 CCDC154 Nonsynonymous SNV L384R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 18.23 67763 chr16 70286740 70286740 C T rs149377346 AARS Nonsynonymous SNV G931S 0.017 0.031 0.034 3 20 12 0.008 10 1 0 0 0 Benign/Likely benign 27 67764 chr16 70422302 70422302 G A rs201715178 ST3GAL2 Synonymous SNV I227I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.36 67765 chr16 89703959 89703959 C T rs142226072 DPEP1 Synonymous SNV A284A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.166 67766 chr16 3170210 3170210 T A rs148859377 ZNF205 Nonsynonymous SNV S517T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.2 67767 chr16 75033679 75033679 A T rs149929766 ZNRF1 Nonsynonymous SNV Y37F 0.026 0.036 0.034 5 31 14 0.013 10 0 1 0 0 12.24 67768 chr16 70694076 70694076 G A rs144464320 IL34 Nonsynonymous SNV G238S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.753 67769 chr17 38279036 38279036 C G rs117827273 MSL1 Synonymous SNV P57P 0.056 0.076 0.082 36 66 29 0.092 24 5 3 2 4 15.93 67770 chr5 140603601 140603601 A G rs200378467 PCDHB14 Nonsynonymous SNV N175S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 19.97 67771 chr16 77243330 77243330 C T rs61740088 SYCE1L Synonymous SNV L66L 0.017 0.013 0.037 11 20 5 0.028 11 0 0 0 0 13.31 67772 chr5 140794202 140794202 A G rs753834653 PCDHGA10 Nonsynonymous SNV E487G 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 67773 chr5 93966313 93966313 G A rs760752268 SLF1 Nonsynonymous SNV R99H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 67774 chr16 77327042 77327042 C T rs61754842 ADAMTS18 Synonymous SNV Q868Q 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 Benign 9.033 67775 chr16 4625943 4626002 GTCCCCAAAGATAGAGGTGGCAAGGATGTGGACCCCAAGGATAGAGCTCACAAGGATGAT - C16orf96 V517_D536del 0.001 0 0 0 1 0 0 0 0 0 0 0 67776 chr17 10350407 10350407 G A rs151306433 MYH4 Nonsynonymous SNV R1698W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.3 67777 chr17 36830727 36830727 G A rs76756126 EPOP Nonsynonymous SNV P8S 0.057 0.073 0.041 29 67 28 0.074 12 4 4 0 4 0.033 67778 chr16 1841128 1841128 A - rs755775132 IGFALS W469Gfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 67779 chr16 81069691 81069691 G C rs200817365 ATMIN Synonymous SNV S72S 0.014 0.008 0.02 8 17 3 0.021 6 0 0 0 0 9.444 67780 chr16 4803043 4803043 C T rs35239167 ZNF500 Synonymous SNV L259L 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 4.954 67781 chr17 34311425 34311425 C T rs201876342 CCL14 Nonsynonymous SNV R48Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 67782 chr17 37296037 37296037 C A rs35450036 PLXDC1 Nonsynonymous SNV R42L 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 15.92 67783 chr16 72137513 72137513 C T rs142314860 DHX38 Synonymous SNV I550I 0.015 0.01 0.003 7 18 4 0.018 1 0 0 0 0 Likely benign 19.57 67784 chr16 19548030 19548030 T A rs11645625 CCP110 Nonsynonymous SNV F347I 0.04 0.036 0.051 25 47 14 0.064 15 0 0 0 1 23.7 67785 chr16 19553950 19553950 A C rs72767539 CCP110 Synonymous SNV T745T 0.04 0.036 0.051 25 47 14 0.064 15 0 0 0 1 0.167 67786 chr5 99871359 99871359 G A rs139985000 FAM174A Nonsynonymous SNV G42D 0.013 0.021 0.003 2 15 8 0.005 1 0 0 0 0 10.66 67787 chr16 74530516 74530516 T C rs141789126 GLG1 Synonymous SNV V256V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.797 67788 chr17 38122117 38122117 G A rs16965465 GSDMA Synonymous SNV T59T 0.021 0.013 0.017 8 25 5 0.021 5 0 0 0 0 7.961 67789 chr5 146258290 146258290 - GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSSSSSSSSSSSSSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 67790 chr16 74750351 74750351 A G rs11554620 FA2H Synonymous SNV Y311Y 0.04 0.029 0.024 12 47 11 0.031 7 1 0 0 0 Benign 0.374 67791 chr17 1371376 1371376 C T rs45598333 MYO1C Synonymous SNV K934K 0.014 0.013 0.01 3 16 5 0.008 3 0 0 0 0 Likely benign 11.59 67792 chr17 38173101 38173101 G T rs9282660 CSF3 Synonymous SNV P132P 0.015 0.008 0.007 4 18 3 0.01 2 0 0 0 0 Benign 1.596 67793 chr17 38256341 38256341 T C NR1D1 Nonsynonymous SNV T3A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 67794 chr16 74920293 74920293 C T rs138813730 WDR59 Synonymous SNV A807A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.4 67795 chr16 74926421 74926421 G A rs77949195 WDR59 Synonymous SNV A681A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.02 67796 chr16 75200719 75200719 G C rs144244672 ZFP1 Nonsynonymous SNV E23Q 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 21.3 67797 chr16 2049840 2049840 C T rs745326016 ZNF598 Synonymous SNV T570T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.7 67798 chr16 82185112 82185112 T C rs2303267 MPHOSPH6 Nonsynonymous SNV I58V 0.035 0.029 0.007 12 41 11 0.031 2 2 0 0 0 23.6 67799 chr6 109081597 109081597 T C rs566575 LINC00222 0 0 0.201 0 0 0 0 59 0 0 7 0 1.178 67800 chr6 109090119 109090119 G A rs557526 LINC00222 0 0 0.224 0 0 0 0 66 0 0 8 0 3.924 67801 chr16 75498148 75498148 T C rs115618771 TMEM170A Star tloss M1? 0.039 0.026 0.027 19 46 10 0.049 8 1 0 0 0 2.903 67802 chr6 109090349 109090349 G A rs560084 LINC00222 0 0 0.194 0 0 0 0 57 0 0 6 0 14.06 67803 chr5 147807003 147807003 A G rs150893158 FBXO38 Nonsynonymous SNV S716G 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 67804 chr16 75513262 75513262 C T rs141905571 CHST6 Synonymous SNV R155R 0.011 0.005 0.02 2 13 2 0.005 6 0 0 0 0 Conflicting interpretations of pathogenicity 4.006 67805 chr16 75513433 75513433 G C rs118144424 CHST6 Synonymous SNV S98S 0.011 0.005 0.02 2 13 2 0.005 6 0 0 0 0 Benign 6.735 67806 chr16 75563352 75563352 C T rs7206332 CHST5 Nonsynonymous SNV A311T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 14.53 67807 chr16 75564172 75564172 C G rs74355367 CHST5 Synonymous SNV L37L 0.005 0 0 3 6 0 0.008 0 0 0 0 0 6.698 67808 chr16 20990740 20990740 G A rs145375625 DNAH3 Nonsynonymous SNV T2617M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.3 67809 chr16 21053361 21053361 G T rs150869091 DNAH3 Synonymous SNV P1496P 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 1.441 67810 chr16 21157307 21157307 G C rs745473531 DNAH3 Nonsynonymous SNV Q74E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.445 67811 chr16 21991887 21991887 T A UQCRC2 Nonsynonymous SNV Y382N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27 67812 chr17 16946210 16946210 C T rs138437542 MPRIP Synonymous SNV I48I 0.026 0.044 0.024 7 31 17 0.018 7 0 1 0 0 16.87 67813 chr16 56509438 56509438 C T rs181095853 OGFOD1 Synonymous SNV G438G 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 17.77 67814 chr17 17080575 17080575 C T rs2292528 MPRIP Synonymous SNV Y936Y 0.026 0.044 0.031 7 31 17 0.018 9 0 1 0 0 12.73 67815 chr16 56660840 56660840 G A MT1E Nonsynonymous SNV C48Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22 67816 chr16 23200701 23200701 C T rs760847890 SCNN1G Synonymous SNV T109T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.59 67817 chr16 77859247 77859247 C T rs73574882 VAT1L Synonymous SNV S156S 0.016 0.01 0.014 4 19 4 0.01 4 0 1 0 0 15.36 67818 chr17 3920858 3920858 A G rs774108699 ZZEF1 Nonsynonymous SNV V2603A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.47 67819 chr16 81095117 81095117 T C rs34941481 C16orf46 Synonymous SNV P279P 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 0.496 67820 chr5 150563075 150563075 C T rs17851409 CCDC69 Nonsynonymous SNV V272I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 67821 chr17 38975214 38975214 - GCCGCCGTGGCCGCCGCTGGAGCTTCC rs769510355 KRT10 G524_S525insGSSSGGHGG 0.003 0.008 0.044 8 4 3 0.021 13 0 0 0 1 67822 chr5 150578592 150578592 C T rs61066192 CCDC69 Synonymous SNV R95R 0.003 0 0 0 3 0 0 0 0 0 0 0 10.71 67823 chr5 150657130 150657130 G T rs59596499 SLC36A3 Nonsynonymous SNV L413I 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 4.584 67824 chr16 57416605 57416605 C T rs149904106 CX3CL1 Synonymous SNV H200H 0.009 0.005 0.003 5 10 2 0.013 1 0 0 0 0 12.61 67825 chr5 150657173 150657173 T C rs56998614 SLC36A3 Synonymous SNV V398V 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 0.786 67826 chr16 81232601 81232601 C T rs147081720 PKD1L2 Synonymous SNV S403S 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 10.74 67827 chr16 57935470 57935470 C T rs79889567 CNGB1 Nonsynonymous SNV V946M 0.01 0.01 0.014 8 12 4 0.021 4 0 0 0 0 Benign/Likely benign 27 67828 chr17 18244076 18244076 G A rs148701087 SHMT1 Nonsynonymous SNV R53C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 67829 chr17 39346735 39346735 C T rs566316625 KRTAP9-1 Synonymous SNV S199S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.247 67830 chr17 39084509 39084509 A C KRT23 Nonsynonymous SNV L164R 0 0.005 0 0 0 2 0 0 0 0 0 0 31 67831 chr17 39122810 39122810 A G rs750762857 KRT39 Nonsynonymous SNV M100T 0 0.005 0 0 0 2 0 0 0 0 0 0 25.4 67832 chr16 58019132 58019132 G C rs370905163 TEPP Synonymous SNV A216A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.76 67833 chr6 123102360 123102360 A G rs17848133 FABP7 Synonymous SNV P123P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.815 67834 chr16 81399026 81399026 C T rs146576740 GAN Nonsynonymous SNV A482V 0.013 0.005 0 4 15 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.04 67835 chr17 39412053 39412053 G A rs759721433 KRTAP9-9 Nonsynonymous SNV C139Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 67836 chr6 125229473 125229473 T G rs57796502 RNF217-AS1 0 0 0.048 0 0 0 0 14 0 0 1 0 4.016 67837 chr16 28995593 28995593 C T rs143322433 SPNS1 Synonymous SNV R446R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.58 67838 chr16 87339450 87339450 C T rs141912735 C16orf95 Nonsynonymous SNV C131Y 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 16.76 67839 chr16 597309 597309 G A rs369178350 CAPN15 Synonymous SNV T157T 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 1.57 67840 chr6 127837039 127837039 C T rs146616372 SOGA3 Nonsynonymous SNV G241S 0.006 0.005 0.014 5 7 2 0.013 4 0 0 0 0 20.9 67841 chr16 84070422 84070422 C T rs142779989 SLC38A8 Synonymous SNV V91V 0.027 0.023 0.017 15 32 9 0.038 5 1 0 1 1 6.63 67842 chr5 151772028 151772028 G T rs35771607 NMUR2 Synonymous SNV P324P 0.017 0.008 0.003 3 20 3 0.008 1 0 0 0 0 Benign 9.441 67843 chr17 39156003 39156003 T G rs771655535 KRTAP3-2 Nonsynonymous SNV T35P 0 0.005 0 0 0 2 0 0 0 0 0 0 25.3 67844 chr16 61687551 61687551 G A rs200638903 CDH8 Synonymous SNV G787G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.561 67845 chr16 30128265 30128265 C T rs55859133 MAPK3 Nonsynonymous SNV E279K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 29.9 67846 chr17 39672399 39672399 G A rs145001788 KRT15 Nonsynonymous SNV A286V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.5 67847 chr17 39197593 39197593 G T rs145621540 KRTAP1-1 Synonymous SNV T19T 0.026 0.021 0.017 7 31 8 0.018 5 0 0 0 0 8.723 67848 chr16 30199805 30199805 G A rs35967690 CORO1A Nonsynonymous SNV V397I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.73 67849 chr17 39197618 39197618 A T rs768488910 KRTAP1-1 Nonsynonymous SNV F11Y 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 11.1 67850 chr16 30500682 30500682 A T rs2230432 ITGAL Synonymous SNV T313T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 67851 chr6 132929904 132929904 C T rs3813352 TAAR3P 0 0 0.442 0 0 0 0 130 0 0 29 0 9.769 67852 chr6 132929911 132929911 A G rs3813351 TAAR3P 0 0 0.422 0 0 0 0 124 0 0 28 0 0.031 67853 chr6 132930158 132930158 T C rs35751778 TAAR3P 0 0 0.374 0 0 0 0 110 0 0 24 0 10.49 67854 chr6 132930277 132930277 G A rs35927289 TAAR3P 0 0 0.347 0 0 0 0 102 0 0 22 0 0.025 67855 chr16 30536916 30536916 T C rs61735343 ZNF768 Nonsynonymous SNV E182G 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 16.46 67856 chr16 30581676 30581676 C A rs33997546 ZNF688 Nonsynonymous SNV S117I 0.025 0.016 0.003 6 29 6 0.015 1 0 0 0 0 0.081 67857 chr16 67003618 67003618 C T rs61743167 CES3 Nonsynonymous SNV R6W 0.008 0.018 0.014 7 9 7 0.018 4 0 0 0 0 18.64 67858 chr6 133045910 133045910 C T rs41302204 VNN3 Synonymous SNV E54E 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 13.29 67859 chr16 30680531 30680531 - GCT rs560230816 FBRS A849_T850insA 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 67860 chr16 67685730 67685730 A T rs62059341 CARMIL2 Nonsynonymous SNV D857V 0.003 0.008 0.003 5 3 3 0.013 1 0 0 0 0 25.8 67861 chr6 133072571 133072571 C T rs79036037 VNN2 Nonsynonymous SNV D305N 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 6.605 67862 chr6 134435946 134435946 - C rs58554017 HMGA1P7 0 0 0.048 0 0 0 0 14 0 0 1 0 67863 chr6 134435949 134435949 - GCA rs376533374 HMGA1P7 0 0 0.065 0 0 0 0 19 0 0 1 0 67864 chr6 134436519 134436519 A G rs80348614 HMGA1P7 0 0 0.088 0 0 0 0 26 0 0 2 0 3.745 67865 chr6 135732649 135732649 T C rs41288013 AHI1 Nonsynonymous SNV Y933C 0.018 0.023 0.02 10 21 9 0.026 6 0 0 0 0 Conflicting interpretations of pathogenicity 11.5 67866 chr16 88601273 88601273 C G rs767256393 ZFPM1 Synonymous SNV P969P 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 3.464 67867 chr5 157241257 157241257 A G rs762848084 CLINT1 Synonymous SNV R96R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.239 67868 chr6 135749885 135749885 C T rs41288017 AHI1 Synonymous SNV R835R 0.017 0.021 0.02 10 20 8 0.026 6 0 0 0 0 Conflicting interpretations of pathogenicity 14.73 67869 chr5 158139261 158139261 C T rs374891820 EBF1 Nonsynonymous SNV V453I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 67870 chr6 136590613 136590613 T C rs62431285 BCLAF1 Synonymous SNV P725P 0.002 0.003 0.041 0 2 1 0 12 0 0 0 0 0.803 67871 chr5 159399131 159399131 C T ADRA1B Nonsynonymous SNV R399C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 67872 chr16 69745014 69745014 G A rs149634724 NQO1 Synonymous SNV D158D 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 11.2 67873 chr17 40263400 40263400 C T rs35118457 DHX58 Nonsynonymous SNV R95Q 0.041 0.049 0.041 19 48 19 0.049 12 1 0 0 0 21.6 67874 chr16 3108217 3108217 C G rs767105329 MMP25 Nonsynonymous SNV L348V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 67875 chr6 138612912 138612912 C T rs373777982 ARFGEF3 Synonymous SNV S1030S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 67876 chr17 40369223 40369223 T C rs111880437 STAT5B Synonymous SNV E445E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 8.943 67877 chr17 40635119 40635119 A G rs35520937 ATP6V0A1 Synonymous SNV G267G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 4.177 67878 chr16 848997 848997 C T rs774579197 GNG13 Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 67879 chr17 40820190 40820190 G A rs376062368 PLEKHH3 Synonymous SNV D779D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.92 67880 chr17 40845541 40845541 A G rs61738809 CNTNAP1 Synonymous SNV P993P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 7.025 67881 chr17 40931054 40931054 T C rs3744239 VPS25 Synonymous SNV T166T 0.008 0.01 0.014 4 9 4 0.01 4 0 0 1 0 4.598 67882 chr16 70590153 70590153 T C rs573483470 SF3B3 Synonymous SNV N594N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 7.841 67883 chr17 40939460 40939460 C T rs9916754 WNK4 Synonymous SNV A211A 0.004 0.005 0.014 4 5 2 0.01 4 0 0 1 0 Benign 8.656 67884 chr17 40939855 40939855 G T rs55781437 WNK4 Nonsynonymous SNV A265S 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 Benign 13.24 67885 chr17 40946913 40946913 C T rs56226218 WNK4 Nonsynonymous SNV P489L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 14.51 67886 chr17 40947163 40947163 G A rs2290042 WNK4 Synonymous SNV P572P 0.004 0.005 0.01 4 5 2 0.01 3 0 0 1 0 Benign 0.292 67887 chr16 8890256 8890256 G C rs118035110 TMEM186 Nonsynonymous SNV I65M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 67888 chr17 40947320 40947320 C T rs2290041 WNK4 Nonsynonymous SNV P625S 0.004 0.005 0.014 4 5 2 0.01 4 0 0 1 0 Benign 4.595 67889 chr17 40957849 40957849 G A rs61995868 CNTD1 Nonsynonymous SNV R93Q 0.008 0.008 0.014 4 9 3 0.01 4 0 0 1 0 19.55 67890 chr17 40985792 40985792 G C rs115525472 PSME3 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 6.362 67891 chr16 3191331 3191331 G A rs147991342 ZNF213 Nonsynonymous SNV A455T 0.015 0.005 0.007 7 18 2 0.018 2 1 0 0 0 22.8 67892 chr17 4389800 4389800 G A rs140121510 SPNS3 Nonsynonymous SNV A331T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 19.68 67893 chr17 4391162 4391162 C T rs147355619 SPNS3 Synonymous SNV G377G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.38 67894 chr17 4446447 4446447 G A rs148844016 MYBBP1A Nonsynonymous SNV R885C 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 35 67895 chr5 169310606 169310606 A T rs145002054 INSYN2B Synonymous SNV T99T 0.032 0.034 0.034 15 37 13 0.038 10 0 0 0 0 0.007 67896 chr16 88493940 88493940 G A rs145178398 ZNF469 Nonsynonymous SNV R21H 0.01 0.018 0.01 4 12 7 0.01 3 0 0 0 0 Benign/Likely benign 23.1 67897 chr16 89293291 89293291 G T rs117690401 ZNF778 Nonsynonymous SNV V171L 0.02 0.005 0.017 1 23 2 0.003 5 2 0 0 0 2.098 67898 chr17 41939212 41939212 T C rs116253080 CD300LG Nonsynonymous SNV V311A 0.02 0.013 0.02 6 24 5 0.015 6 0 0 0 0 0.021 67899 chr16 89348606 89348606 A G rs61744778 ANKRD11 Synonymous SNV Y1448Y 0.045 0.065 0.02 13 53 25 0.033 6 3 1 0 0 Benign 0.006 67900 chr16 3613263 3613263 C T rs142571279 NLRC3 Nonsynonymous SNV A559T 0.007 0.01 0.007 6 8 4 0.015 2 0 0 0 0 5.308 67901 chr16 72057421 72057421 C T rs61733129 DHODH Nonsynonymous SNV A341V 0.038 0.036 0.024 15 45 14 0.038 7 3 0 0 0 Benign/Likely benign 34 67902 chr16 89595908 89595908 C T rs370949294 SPG7 Nonsynonymous SNV T261M 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Uncertain significance 26.1 67903 chr16 4242521 4242521 T G rs764149460 SRL Nonsynonymous SNV Q352P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.3 67904 chr17 42030702 42030702 G A rs138375613 PYY Synonymous SNV A50A 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 Benign 12.85 67905 chr16 4245570 4245570 G A rs377074367 SRL Synonymous SNV R198R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 7.88 67906 chr6 152555057 152555057 T A rs34905593 SYNE1 Synonymous SNV S6786S 0.023 0.016 0.048 9 27 6 0.023 14 0 0 0 2 Benign/Likely benign 16.65 67907 chr6 152640110 152640110 G A rs2306914 SYNE1 Nonsynonymous SNV T5355M 0.025 0.031 0.024 10 29 12 0.026 7 0 0 1 0 Benign/Likely benign 19.72 67908 chr16 75298285 75298285 C G rs146094747 BCAR1 Nonsynonymous SNV E38D 0.008 0.013 0.003 1 9 5 0.003 1 1 0 0 0 0.076 67909 chr17 42254255 42254255 C T rs7224330 ASB16 Nonsynonymous SNV T240I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.1 67910 chr6 152646279 152646279 G C rs9383987 SYNE1 Synonymous SNV A5128A 0.028 0.036 0.027 10 33 14 0.026 8 1 0 1 0 Benign 7.537 67911 chr5 176308303 176308303 C T rs145827614 HK3 Nonsynonymous SNV R876H 0.011 0.008 0.007 5 13 3 0.013 2 0 0 0 0 11.43 67912 chr17 42288661 42288661 G A rs2228196 UBTF Synonymous SNV L325L 0.004 0.008 0.017 6 5 3 0.015 5 0 0 0 0 8.953 67913 chr16 74683077 74683079 CTG - rs766203008 RFWD3 A248del 0.004 0.005 0 0 5 2 0 0 0 0 0 0 67914 chr17 42457120 42457120 C T rs5912 ITGA2B Synonymous SNV P605P 0.018 0.013 0.017 11 21 5 0.028 5 0 0 0 1 Benign 9.683 67915 chr17 3020324 3020324 T C rs763865085 OR1E3 Nonsynonymous SNV M144T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.036 67916 chr16 4790204 4790204 C G rs61731839 C16orf71 Nonsynonymous SNV N109K 0.029 0.034 0.041 15 34 13 0.038 12 2 0 1 0 0.032 67917 chr17 42635088 42635088 - GATGCC rs753676516 FZD2 L11_L12insMP 0.006 0.008 0.003 7 7 3 0.018 1 0 0 0 1 67918 chr6 154412275 154412275 C A rs117860990 OPRM1 Synonymous SNV R178R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 67919 chr17 42635094 42635094 C T rs150027138 FZD2 Nonsynonymous SNV P13L 0.006 0.008 0.003 7 7 3 0.018 1 0 0 0 1 Likely benign 14.51 67920 chr5 176722277 176722277 C T rs143159630 NSD1 Synonymous SNV L2636L 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Benign/Likely benign 8.842 67921 chr17 42636478 42636478 C T rs181996309 FZD2 Synonymous SNV T474T 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 1 10.66 67922 chr16 88782145 88782145 G C rs547600679 PIEZO1 Synonymous SNV L2478L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.355 67923 chr17 42786208 42786208 G T rs34198215 DBF4B 0.016 0.013 0.014 8 19 5 0.021 4 0 0 0 0 23.5 67924 chr16 75642762 75642762 G A rs778703472 ADAT1 Stop gain R303X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 67925 chr17 3181326 3181326 T C rs202113738 OR3A2 Nonsynonymous SNV R302G 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.3 67926 chr16 48278488 48278488 G A rs183194774 LONP2 Synonymous SNV T63T 0.01 0.003 0 8 12 1 0.021 0 0 0 0 0 16.4 67927 chr16 767377 767377 C A rs541243033 METRN Nonsynonymous SNV A291E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 67928 chr16 80584435 80584435 A C rs139261212 DYNLRB2 Nonsynonymous SNV I120L 0.01 0.013 0 1 12 5 0.003 0 0 0 0 0 22.7 67929 chr5 176930373 176930373 G A rs550446401 DOK3 Synonymous SNV G120G 0.005 0 0 0 6 0 0 0 0 0 0 0 7.406 67930 chr17 43331843 43331843 A G rs912105232 SPATA32 Synonymous SNV L369L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.646 67931 chr5 176935367 176935367 C A DOK3 Synonymous SNV L81L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.43 67932 chr16 88804576 88804576 C T rs72813506 LOC100289580 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 7.548 67933 chr16 4947748 4947748 T C rs61734748 PPL Synonymous SNV A300A 0.032 0.026 0.031 24 37 10 0.062 9 1 0 0 0 5.831 67934 chr17 4443075 4443075 T A rs9905742 MYBBP1A Nonsynonymous SNV M1208L 0.089 0.063 0.054 25 104 24 0.064 16 3 0 0 0 10.76 67935 chr17 4451545 4451545 C T rs9907224 MYBBP1A Synonymous SNV Q539Q 0.076 0.055 0.065 21 89 21 0.054 19 1 0 0 0 12.1 67936 chr5 177652360 177652360 C G rs559406393 PHYKPL Nonsynonymous SNV D96H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 67937 chr6 159458024 159458024 C T rs61753626 TAGAP Nonsynonymous SNV S281N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.002 67938 chr5 178608112 178608112 G A rs35462609 ADAMTS2 Synonymous SNV N312N 0.021 0.016 0.014 8 25 6 0.021 4 0 0 0 0 Benign/Likely benign 9.892 67939 chr17 45742482 45742482 A G rs145950162 KPNB1 Synonymous SNV L174L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.48 67940 chr16 54317628 54317628 G A rs61744547 IRX3 Synonymous SNV A492A 0.018 0.021 0.024 7 21 8 0.018 7 0 0 0 0 11.9 67941 chr17 43246456 43246456 G A rs34207107 HEXIM2 Synonymous SNV P69P 0.005 0.013 0.007 4 6 5 0.01 2 0 0 0 0 16.03 67942 chr17 14110179 14110179 C T rs146175179 COX10 Synonymous SNV N327N 0.012 0.008 0.003 0 14 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.86 67943 chr17 4349406 4349406 A G rs774746113 SPNS3 Nonsynonymous SNV I29V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 16.33 67944 chr17 44061187 44061187 C G MAPT Synonymous SNV G339G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.586 67945 chr16 81819676 81819676 A T rs61749044 PLCG2 Nonsynonymous SNV M28L 0.01 0.008 0.007 3 12 3 0.008 2 0 0 0 0 Benign 24 67946 chr5 179665367 179665367 C A rs55736180 MAPK9 Nonsynonymous SNV R366I 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 67947 chr16 83999490 83999490 C A rs200722740 OSGIN1 Nonsynonymous SNV R438S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.4 67948 chr16 837640 837640 G T RPUSD1 Nonsynonymous SNV A33E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.087 67949 chr16 89629429 89629429 G C rs146062904 RPL13 Nonsynonymous SNV Q205H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.3 67950 chr16 83932780 83932780 A G rs138107830 MLYCD Nonsynonymous SNV R11G 0.003 0.013 0 1 4 5 0.003 0 0 1 0 0 Benign 9.091 67951 chr16 89774288 89774288 C G VPS9D1 Nonsynonymous SNV R626P 0.003 0 0 3 4 0 0.008 0 0 0 0 0 13.05 67952 chr17 4575437 4575439 TCC - rs202088140 PELP1 E949del 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 67953 chr17 4575515 4575517 TCC - rs534948725 PELP1 E930del 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 67954 chr17 4575569 4575577 TCTTCCTCT - rs562147626 PELP1 E906_E908del 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 67955 chr6 161560461 161560461 G A rs61735260 AGPAT4 Synonymous SNV F345F 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 6.556 67956 chr6 161582535 161582535 T C rs6934457 AGPAT4-IT1 0 0 0.221 0 0 0 0 65 0 0 8 0 3.153 67957 chr17 16470911 16470911 A C ZNF287 Synonymous SNV T45T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.133 67958 chr5 180627002 180627002 C T rs141530115 TRIM7 Nonsynonymous SNV R51Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 67959 chr6 166354047 166354047 C G rs12208047 LINC00473 0 0 0.19 0 0 0 0 56 0 0 4 0 0.543 67960 chr17 47295162 47295162 A G rs142527437 ABI3 Nonsynonymous SNV Q110R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.3 67961 chr16 84513560 84513560 G A rs113746582 MEAK7 Nonsynonymous SNV R444C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.57 67962 chr6 167411298 167411298 T C rs80032204 MIR3939 0 0 0.146 0 0 0 0 43 0 0 12 0 4.536 67963 chr17 48183497 48183497 G A rs140747393 PDK2 Nonsynonymous SNV R194Q 0.012 0.01 0.014 4 14 4 0.01 4 0 0 0 0 2.281 67964 chr6 2766613 2766613 C T rs71552136 WRNIP1 Nonsynonymous SNV R253C 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 26.4 67965 chr6 167411300 167411300 T C rs77840042 MIR3939 0 0 0.146 0 0 0 0 43 0 0 12 0 0.432 67966 chr6 167411301 167411301 G A rs75692943 MIR3939 0 0 0.139 0 0 0 0 41 0 0 11 0 1.948 67967 chr17 35921652 35921652 T C SYNRG Synonymous SNV A346A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.22 67968 chr17 17722907 17722907 G A rs758544446 SREBF1 Nonsynonymous SNV A195V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.76 67969 chr16 85667581 85667581 C T rs201763364 GSE1 Synonymous SNV T23T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.49 67970 chr17 10546206 10546206 G A rs201500894 MYH3 Synonymous SNV G506G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 67971 chr16 66945995 66945995 - CAC CDH16 V435_Q436insV 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 67972 chr16 67221444 67221444 G C rs34746889 EXOC3L1 Nonsynonymous SNV R242G 0.014 0.016 0.034 7 16 6 0.018 10 0 0 1 0 24.2 67973 chr17 11631210 11631210 G A rs150023546 DNAH9 Nonsynonymous SNV V1929M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 67974 chr16 67314022 67314022 G T rs566244888 PLEKHG4 Synonymous SNV V25V 0 0 0 2 0 0 0.005 0 0 0 0 0 13.37 67975 chr17 36935737 36935737 C T rs111394547 PIP4K2B Nonsynonymous SNV G185S 0.002 0.01 0.003 2 2 4 0.005 1 0 0 0 0 34 67976 chr17 11786983 11786983 C T rs61742982 DNAH9 Synonymous SNV S3629S 0.017 0.023 0.007 5 20 9 0.013 2 0 0 0 0 8.706 67977 chr6 17626137 17626137 G C rs745446588 NUP153 Nonsynonymous SNV T1226R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 67978 chr17 182948 182955 CCCGGGCG - LOC100506388 0.002 0 0 0 2 0 0 0 0 0 0 0 67979 chr17 182957 183010 TCGTCACTGCAGACATCACTGCAGACACAGAGAAGGCCATTAGAGCTCACCACC - LOC100506388 0.002 0 0 0 2 0 0 0 0 0 0 0 67980 chr16 85711887 85711887 C T rs148331344 GINS2 Synonymous SNV A163A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 13.29 67981 chr17 19265952 19265952 C T rs2296978 B9D1 Nonsynonymous SNV R28K 0.029 0.034 0.031 16 34 13 0.041 9 1 2 0 0 Benign 20.9 67982 chr6 7329401 7329401 A G rs186833030 CAGE1 Synonymous SNV T824T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.54 67983 chr16 86601049 86601049 C T rs138318843 FOXC2 Synonymous SNV S36S 0.013 0.008 0.017 6 15 3 0.015 5 0 0 0 0 Benign 13.03 67984 chr17 48741080 48741080 C T rs11568605 ABCC3 Nonsynonymous SNV S346F 0.017 0.016 0.01 8 20 6 0.021 3 0 0 0 0 11.17 67985 chr6 18572056 18572056 T G rs12197631 MIR548A1 0 0 0.041 0 0 0 0 12 0 0 0 0 5.009 67986 chr17 48761464 48761464 C T rs769100902 ABCC3 Nonsynonymous SNV P1370L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 67987 chr16 68714912 68714912 G T rs148535251 CDH3 Nonsynonymous SNV M248I 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 Uncertain significance 24.6 67988 chr17 49075878 49075878 C T rs370432312 SPAG9 Nonsynonymous SNV V432I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.5 67989 chr17 38296866 38296866 G C rs184119888 CASC3 Nonsynonymous SNV G22A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.4 67990 chr6 25097298 25097298 C G rs1128827 CMAHP 0 0 0.082 0 0 0 0 24 0 0 2 0 10.93 67991 chr17 38546274 38546274 A C rs17680289 TOP2A Synonymous SNV T1470T 0.02 0.018 0.003 9 23 7 0.023 1 0 0 0 0 6.136 67992 chr6 25097411 25097411 - T rs143019302 CMAHP 0 0 0.078 0 0 0 0 23 0 0 2 0 67993 chr6 25106663 25106663 G A rs7774557 CMAHP 0 0 0.082 0 0 0 0 24 0 0 2 0 8.299 67994 chr6 25108753 25108753 T C rs16890087 CMAHP 0 0 0.082 0 0 0 0 24 0 0 2 0 7.09 67995 chr6 25108923 25108923 A G rs1128826 CMAHP 0 0 0.082 0 0 0 0 24 0 0 2 0 16.7 67996 chr6 25109774 25109774 G A rs1046142 CMAHP 0 0 0.088 0 0 0 0 26 0 0 3 0 14.28 67997 chr6 25110234 25110234 C T rs78066062 CMAHP 0 0 0.082 0 0 0 0 24 0 0 2 0 18.72 67998 chr17 5292262 5292262 C T rs61753104 NUP88 Synonymous SNV A501A 0.02 0.023 0.031 6 23 9 0.015 9 0 1 1 0 19.6 67999 chr16 710079 710079 C T rs371693722 WDR90 Nonsynonymous SNV S1069L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.558 68000 chr16 711707 711707 G T rs376207789 WDR90 Nonsynonymous SNV A1262S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.74 68001 chr6 12125614 12125614 G A rs145559140 HIVEP1 Synonymous SNV K1862K 0.011 0.005 0.017 3 13 2 0.008 5 0 0 0 0 Benign 1.097 68002 chr17 61554686 61554686 G A rs184457276 ACE Synonymous SNV A77A 0.017 0.018 0.007 13 20 7 0.033 2 1 0 0 1 Benign 8.158 68003 chr17 1673303 1673303 C G rs140512665 SERPINF1 Nonsynonymous SNV S81C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 68004 chr17 4923851 4923851 G A rs78356534 KIF1C Synonymous SNV L605L 0.008 0.008 0.02 3 9 3 0.008 6 0 0 0 0 Benign/Likely benign 8.234 68005 chr6 26031962 26031962 G A rs34966100 HIST1H3B Synonymous SNV N109N 0.012 0.016 0.02 5 14 6 0.013 6 0 0 0 0 6.956 68006 chr6 26124485 26124485 G A HIST1H2AC Nonsynonymous SNV G9S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 68007 chr16 88787052 88787052 G A rs201442593 PIEZO1 Nonsynonymous SNV R1925W 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.3 68008 chr6 15517445 15517445 C T rs144862092 JARID2 Synonymous SNV H996H 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Benign 18.54 68009 chr6 2623820 2623820 G A rs6902511 LINC01600 0 0 0.306 0 0 0 0 90 0 0 15 0 5.134 68010 chr16 716512 716512 C T rs35506206 WDR90 Nonsynonymous SNV R1600W 0.003 0.003 0.01 3 3 1 0.008 3 0 0 0 0 34 68011 chr17 55917291 55917291 G A rs117066436 MRPS23 Synonymous SNV H142H 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Benign 4.512 68012 chr6 2685775 2685775 G A rs34953021 MYLK4 Nonsynonymous SNV T126M 0.089 0.091 0.092 36 104 35 0.092 27 3 0 1 1 24.1 68013 chr6 27326792 27326792 T C rs16898116 ZNF204P 0 0 0.048 0 0 0 0 14 0 0 0 0 2.7 68014 chr6 27326863 27326863 G A rs2235232 ZNF204P 0 0 0.541 0 0 0 0 159 0 0 37 0 7.98 68015 chr6 27327349 27327349 C G rs9357037 ZNF204P 0 0 0.214 0 0 0 0 63 0 0 4 0 10.33 68016 chr6 27327608 27327608 T - rs34125661 ZNF204P 0 0 0.463 0 0 0 0 136 0 0 30 0 68017 chr17 53016291 53016291 G A TOM1L1 Nonsynonymous SNV S270N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.742 68018 chr17 56386732 56386732 C T rs61741210 TSPOAP1 Nonsynonymous SNV D1241N 0.026 0.031 0.054 13 30 12 0.033 16 0 0 1 0 Benign 23.2 68019 chr17 62492726 62492726 A C rs376142071 POLG2 Nonsynonymous SNV F121V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 13.59 68020 chr16 72153863 72153863 G A rs142460615 PMFBP1 Nonsynonymous SNV T965M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 2.525 68021 chr17 56405046 56405046 C T rs61743284 TSPOAP1 Nonsynonymous SNV G79E 0.025 0.031 0.054 5 29 12 0.013 16 0 0 1 0 Benign 0.287 68022 chr17 56429264 56429264 C A rs116089788 TSPOAP1-AS1 0.032 0.026 0.058 13 37 10 0.033 17 1 0 1 1 11.69 68023 chr6 3113492 3113492 G A rs114183703 RIPK1 Synonymous SNV T599T 0.029 0.016 0.02 11 34 6 0.028 6 0 0 1 0 Benign 13.52 68024 chr16 88788793 88788793 C T rs779767428 PIEZO1 Synonymous SNV A1596A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.26 68025 chr16 88804364 88804364 C T rs139099911 PIEZO1 Nonsynonymous SNV R333H 0.015 0.013 0.007 2 18 5 0.005 2 0 0 0 0 Benign 6.751 68026 chr6 32521741 32521741 T C rs66654841 HLA-DRB6 0 0 0.034 0 0 0 0 10 0 0 5 0 0.295 68027 chr6 32522683 32522683 C A rs35373206 HLA-DRB6 0 0 0.204 0 0 0 0 60 0 0 29 0 10.18 68028 chr6 32522713 32522713 G C rs35848793 HLA-DRB6 0 0 0.197 0 0 0 0 58 0 0 28 0 1.307 68029 chr17 54990800 54990800 T C rs144052631 TRIM25 Nonsynonymous SNV K184E 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 27.2 68030 chr6 32525696 32525696 G A rs28708071 HLA-DRB6 0 0 0.034 0 0 0 0 10 0 0 5 0 0.992 68031 chr6 32525718 32525718 A - rs67160089 HLA-DRB6 0 0 0.041 0 0 0 0 12 0 0 6 0 68032 chr6 32525732 32525732 T C rs71536549 HLA-DRB6 0 0 0.041 0 0 0 0 12 0 0 6 0 4.456 68033 chr16 89017100 89017100 C G rs200229860 LOC100129697 Nonsynonymous SNV P192A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 68034 chr6 32627798 32627798 C T rs1071641 HLA-DQB1-AS1 0 0 0.259 0 0 0 0 76 0 0 36 0 7.996 68035 chr6 32627807 32627807 A T rs1049122 HLA-DQB1-AS1 0 0 0.299 0 0 0 0 88 0 0 42 0 11.24 68036 chr17 25910129 25910129 G A rs766900702 KSR1 Nonsynonymous SNV M326I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.77 68037 chr16 88877983 88877983 G A rs145490332 APRT Synonymous SNV H54H 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 Benign/Likely benign 13.46 68038 chr6 32632644 32632644 G - rs769966559 HLA-DQB1 R104Gfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 68039 chr6 32632649 32632649 - T rs763272648 HLA-DQB1 Frameshift insertion G102Efs*66 0 0 0.003 0 0 0 0 1 0 0 0 0 68040 chr17 66038248 66038248 G A rs148032855 KPNA2 Nonsynonymous SNV R117Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.4 68041 chr17 27010035 27010035 T C rs777732217 SUPT6H Synonymous SNV L601L 0.003 0 0 0 4 0 0 0 0 0 0 0 3.062 68042 chr17 27085475 27085475 C A rs777468977 FAM222B Nonsynonymous SNV G501V 0.003 0 0 0 4 0 0 0 0 0 0 0 23 68043 chr6 32632753 32632753 C T rs9274402 HLA-DQB1 Synonymous SNV E67E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 68044 chr16 89390709 89390709 G A rs192788151 LOC100287036 Nonsynonymous SNV D32N 0.007 0.01 0.003 3 8 4 0.008 1 0 0 0 0 4.386 68045 chr16 80718881 80718881 C A rs148308758 CDYL2 Nonsynonymous SNV G57V 0.012 0.008 0.024 5 14 3 0.013 7 0 0 0 1 24.8 68046 chr16 89756991 89756991 T C rs559170845 CDK10 Nonsynonymous SNV I64T 0.002 0 0 0 2 0 0 0 0 0 0 0 23 68047 chr16 89777078 89777078 G A rs56288641 VPS9D1 Nonsynonymous SNV R392W 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 12.64 68048 chr17 61895496 61895496 G A rs141622083 DDX42 Nonsynonymous SNV R852H 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 24.2 68049 chr6 33555348 33555348 G A rs4559081 LINC00336 0 0 0.221 0 0 0 0 65 0 0 6 0 5.038 68050 chr6 27277521 27277521 G T rs41269259 POM121L2 Nonsynonymous SNV T810N 0.032 0.036 0.027 10 38 14 0.026 8 0 1 0 0 7.746 68051 chr6 33560974 33560974 G T rs367987222 LINC00336 0 0 0.003 0 0 0 0 1 0 0 0 0 6.963 68052 chr17 67081278 67081278 A G rs77542162 ABCA6 Nonsynonymous SNV C1359R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.1 68053 chr17 29220972 29220972 A G rs752332315 ATAD5 Nonsynonymous SNV T1701A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 68054 chr6 27835055 27835055 G A rs116008322 H1-5 Synonymous SNV L85L 0.03 0.026 0.031 19 35 10 0.049 9 1 0 0 2 0.586 68055 chr17 68128417 68128417 C T rs34408089 KCNJ16 Synonymous SNV T98T 0.03 0.018 0.034 16 35 7 0.041 10 0 0 0 0 2.842 68056 chr16 89986546 89986546 G C rs1805009 MC1R Nonsynonymous SNV D294H 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 68057 chr17 31258657 31258657 G A rs148593533 TMEM98 Synonymous SNV L37L 0.004 0.003 0.027 2 5 1 0.005 8 0 0 0 0 12.44 68058 chr6 35391922 35391922 G A rs138479838 PPARD Synonymous SNV T110T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.853 68059 chr16 90075226 90075226 C T rs4362387 DBNDD1 Synonymous SNV S95S 0.019 0.023 0.017 12 22 9 0.031 5 0 0 0 0 10.66 68060 chr17 1132421 1132421 G A rs868372864 ABR Synonymous SNV N168N 0.011 0.008 0 2 13 3 0.005 0 1 0 0 0 13.53 68061 chr16 90103659 90103659 G A rs17178299 GAS8 Nonsynonymous SNV R67Q 0.015 0.021 0.017 10 18 8 0.026 5 0 0 0 0 Benign 24.5 68062 chr17 1132554 1132554 C T rs112210115 ABR Nonsynonymous SNV R124Q 0.024 0.005 0 6 28 2 0.015 0 1 0 0 0 Benign 17.48 68063 chr16 90106746 90106746 C T rs61734731 GAS8 Synonymous SNV T158T 0.015 0.023 0.017 10 18 9 0.026 5 0 0 0 0 Benign 9.357 68064 chr17 32964456 32964456 G A rs756609596 TMEM132E Synonymous SNV R810R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.254 68065 chr6 35048899 35048899 T C rs35455943 ANKS1A Synonymous SNV P891P 0.033 0.026 0.031 4 39 10 0.01 9 1 0 0 0 0.039 68066 chr17 61557773 61557773 A G rs3730025 ACE Nonsynonymous SNV Y244C 0.012 0.023 0.003 5 14 9 0.013 1 0 0 0 0 Benign 27.8 68067 chr17 694846 694846 A G rs138543348 MRM3 Nonsynonymous SNV N71S 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 5.017 68068 chr17 33269904 33269904 C T rs149906430 CCT6B Synonymous SNV L167L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.71 68069 chr6 35253974 35253974 C T rs2228265 ZNF76 Nonsynonymous SNV T48M 0.045 0.029 0.051 8 53 11 0.021 15 1 0 0 0 25.8 68070 chr6 35943181 35943181 T C SLC26A8 Nonsynonymous SNV I315V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 68071 chr6 35287755 35287755 G A rs61734578 DEF6 Synonymous SNV E514E 0.036 0.023 0.034 4 42 9 0.01 10 1 0 0 0 9.991 68072 chr6 35288696 35288696 C T rs34278260 DEF6 Synonymous SNV N539N 0.036 0.023 0.034 4 42 9 0.01 10 1 0 0 0 14.75 68073 chr6 35430686 35430686 G A rs9462088 FANCE Nonsynonymous SNV A502T 0.061 0.057 0.058 15 72 22 0.038 17 4 2 2 0 Benign 13.77 68074 chr17 62019041 62019041 G A rs939785324 SCN4A Nonsynonymous SNV T1534M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.8 68075 chr6 35544942 35544942 G A rs34866878 FKBP5 Synonymous SNV N365N 0.038 0.039 0.048 14 45 15 0.036 14 0 0 0 0 12.42 68076 chr17 10395845 10395845 A T rs149572767 MYH1 Nonsynonymous SNV I1903N 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 23.8 68077 chr16 84050134 84050134 G A rs376183533 SLC38A8 Synonymous SNV F384F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.73 68078 chr17 2228003 2228003 C T rs56279343 TSR1 Nonsynonymous SNV R714H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 68079 chr17 2276348 2276348 C T rs147437438 SGSM2 Synonymous SNV F585F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.08 68080 chr17 62133221 62133226 GCTGCT - rs774656013 ERN1 Q494_Q495del 0 0.003 0 0 0 1 0 0 0 0 0 0 68081 chr17 63554307 63554307 A G rs2240307 AXIN2 Synonymous SNV I144I 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 Benign 0.784 68082 chr17 40926713 40926713 G A rs746419040 VPS25 Synonymous SNV K83K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.27 68083 chr6 38875526 38875526 G A rs9369091 LOC100131047 0 0 0.337 0 0 0 0 99 0 0 37 0 2.784 68084 chr17 34091340 34091340 G C rs145033564 C17orf50 Nonsynonymous SNV D110H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 25.1 68085 chr17 67087398 67087398 G A ABCA6 Synonymous SNV S1138S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.42 68086 chr17 16527530 16527530 A G rs145240821 ZNF624 Nonsynonymous SNV C224R 0.013 0.008 0.014 6 15 3 0.015 4 1 0 0 0 2.366 68087 chr17 72356119 72356119 G C rs145160027 BTBD17 Nonsynonymous SNV D117E 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.51 68088 chr6 39278695 39278697 AAG - rs540653476 KCNK17 F109del 0.006 0.003 0.003 2 7 1 0.005 1 1 0 0 0 68089 chr17 29653237 29653237 G A rs17887014 NF1 Synonymous SNV K1724K 0.012 0.01 0.003 8 14 4 0.021 1 0 0 0 0 Benign/Likely benign 9.6 68090 chr17 14248877 14248877 G A rs9906590 HS3ST3B1 Nonsynonymous SNV E363K 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 20.6 68091 chr17 65734349 65734349 A G rs138957141 NOL11 Synonymous SNV Q365Q 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 0.046 68092 chr17 34923535 34923535 G A rs151184499 GGNBP2 Synonymous SNV S187S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.32 68093 chr6 41774041 41774041 G A rs765626631 USP49 Synonymous SNV A227A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.372 68094 chr17 15215790 15215790 A G rs6502446 TEKT3 Nonsynonymous SNV V296A 0.003 0.013 0.007 3 4 5 0.008 2 0 0 0 0 25.7 68095 chr17 42030528 42030528 A G rs61612861 PYY Nonsynonymous SNV L73P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 19.21 68096 chr17 663472 663472 C A rs77166377 GLOD4 Nonsynonymous SNV A224S 0.008 0.026 0.014 6 9 10 0.015 4 0 0 0 0 23.2 68097 chr6 39311554 39311554 C T rs139582255 KIF6 Nonsynonymous SNV G238R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 33 68098 chr6 42153428 42153428 C A rs139923590 GUCA1B Nonsynonymous SNV E155D 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 Benign 19.4 68099 chr6 39855288 39855288 C A rs35383047 DAAM2 Synonymous SNV I660I 0.069 0.076 0.044 20 81 29 0.051 13 5 3 0 0 21.9 68100 chr6 39859102 39859102 G A rs9394632 LOC100505635 0.064 0.07 0.041 19 75 27 0.049 12 4 3 0 0 14.25 68101 chr17 1637054 1637054 C T rs543240690 WDR81 Nonsynonymous SNV R372W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.7 68102 chr17 42267949 42267949 G A rs9895154 TMUB2 Nonsynonymous SNV R208H 0.025 0.026 0.007 18 29 10 0.046 2 0 0 0 0 24.3 68103 chr17 17039562 17039567 CAGCAG - rs202138172 MPRIP S220_S221del 0.024 0.039 0.003 7 28 15 0.018 1 0 1 0 0 68104 chr17 17039565 17039567 CAG - MPRIP S221del 0.017 0.034 0 5 20 13 0.013 0 0 0 0 0 68105 chr6 44140054 44140054 - GGCTGCC rs397947482 CAPN11 Frameshift insertion I145Gfs*48 0.062 0.052 0.061 18 73 20 0.046 18 0 0 0 0 68106 chr17 37317566 37317566 C A rs11653423 ARL5C Synonymous SNV R98R 0.005 0.003 0.01 1 6 1 0.003 3 1 0 0 0 11.5 68107 chr17 37319046 37319046 G A rs61749062 ARL5C Nonsynonymous SNV P58L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.339 68108 chr17 17184495 17184495 C T rs11549132 COPS3 Synonymous SNV A2A 0.008 0.016 0.007 2 9 6 0.005 2 0 0 0 0 Benign 22.8 68109 chr17 37368575 37368575 C T rs16547 STAC2 Synonymous SNV L260L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.87 68110 chr17 7192870 7192870 G A rs139135690 YBX2 Synonymous SNV P341P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 68111 chr17 17720419 17720419 G C rs45535737 SREBF1 Synonymous SNV P522P 0.011 0.016 0.024 4 13 6 0.01 7 0 1 0 0 8.544 68112 chr17 38033048 38033048 C G rs35302660 ZPBP2 Nonsynonymous SNV Q313E 0.006 0.003 0.003 1 7 1 0.003 1 1 0 0 0 5.089 68113 chr17 38062139 38062139 G A rs16965388 GSDMB Nonsynonymous SNV R308C 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 13.04 68114 chr17 18023499 18023499 G A rs145292219 MYO15A Nonsynonymous SNV G462D 0.023 0.016 0.031 3 27 6 0.008 9 0 0 0 0 Benign/Likely benign 20.5 68115 chr17 38447569 38447569 T C rs1130199 CDC6 Synonymous SNV C146C 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Benign 3.969 68116 chr17 18141783 18141783 A G rs140298639 LLGL1 Nonsynonymous SNV N689S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 68117 chr6 43250558 43250558 G A rs114539464 TTBK1 Nonsynonymous SNV D694N 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 21.3 68118 chr17 38450692 38450692 G A rs181925915 CDC6 Synonymous SNV L340L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 12.26 68119 chr17 73627650 73627650 C T rs202152201 RECQL5 Nonsynonymous SNV R443Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 20.3 68120 chr17 73739793 73739793 G A ITGB4 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.6 68121 chr17 18155793 18155793 T A rs61741784 FLII Nonsynonymous SNV E310V 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 Likely benign 24.6 68122 chr17 3563613 3563613 C T CTNS Stop gain Q352X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 68123 chr17 18186148 18186148 C T rs139844084 TOP3A Nonsynonymous SNV E534K 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 24.6 68124 chr6 43406366 43406366 C T rs142854084 ABCC10 Nonsynonymous SNV R626C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 18.28 68125 chr17 18208493 18208493 C A rs28684992 TOP3A Synonymous SNV V49V 0.006 0.005 0.01 4 7 2 0.01 3 0 0 0 0 Benign 18.2 68126 chr16 88719760 88719760 G A rs151006109 MVD Nonsynonymous SNV A357V 0.009 0.003 0.007 8 10 1 0.021 2 0 0 0 0 12.24 68127 chr17 1840008 1840008 C T rs762129974 RTN4RL1 Nonsynonymous SNV A370T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 68128 chr6 43970641 43970641 C T rs200151595 C6orf223 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 68129 chr17 19575238 19575238 T C rs141112437 ALDH3A2 Nonsynonymous SNV F471S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 20.1 68130 chr6 44243463 44243463 G A rs3734709 TMEM151B Synonymous SNV S300S 0.026 0.01 0.024 11 31 4 0.028 7 0 0 0 0 12.03 68131 chr17 74068513 74068513 A G rs374339461 SRP68 Synonymous SNV G20G 0.023 0.016 0.017 6 27 6 0.015 5 0 0 0 0 9.691 68132 chr6 44255387 44255387 C T rs61742784 TCTE1 Nonsynonymous SNV R59H 0.026 0.01 0.027 11 31 4 0.028 8 0 0 0 0 13.31 68133 chr17 72443138 72443138 G A rs139362972 GPRC5C, GPRC5C Nonsynonymous SNV V433I 0.011 0.018 0.007 3 13 7 0.008 2 0 0 0 0 23.4 68134 chr17 46608021 46608021 C T rs145345040 HOXB1 Synonymous SNV S82S 0.016 0.021 0.01 5 19 8 0.013 3 0 0 0 0 Benign 12.97 68135 chr17 36708225 36708225 C T rs118010851 SRCIN1 Nonsynonymous SNV S875N 0.03 0.039 0.027 16 35 15 0.041 8 0 0 1 2 17.99 68136 chr6 44270870 44270870 C T rs35623954 AARS2 Nonsynonymous SNV V730M 0.026 0.01 0.027 11 30 4 0.028 8 0 0 0 0 Benign 28.8 68137 chr17 72556893 72556893 C T rs138914131 CD300H Nonsynonymous SNV G185S 0.014 0.021 0 3 17 8 0.008 0 0 1 0 0 9.317 68138 chr17 46801998 46801998 G C rs56290537 PRAC2 Nonsynonymous SNV A76P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.718 68139 chr17 37093490 37093490 C T rs150816372 FBXO47 Nonsynonymous SNV A433T 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 33 68140 chr6 53409357 53409357 C A GCLC Nonsynonymous SNV Q29H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 68141 chr6 53409393 53409393 G T GCLC Synonymous SNV R17R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 68142 chr17 72725404 72725404 G T rs140336944 RAB37 Nonsynonymous SNV V28L 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 22.6 68143 chr17 72916421 72916421 G C rs374630813 USH1G Synonymous SNV A67A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 1.735 68144 chr17 73623704 73623704 G C rs200560792 RECQL5 Nonsynonymous SNV S958R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.575 68145 chr17 47041826 47041826 G T rs61733693 GIP Nonsynonymous SNV P35T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.537 68146 chr6 56327856 56327856 C T rs144012429 DST Synonymous SNV V5039V 0.013 0.005 0.007 8 15 2 0.021 2 0 0 0 0 11.32 68147 chr17 74684591 74684591 C T rs777162059 MXRA7 Nonsynonymous SNV A47T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 6.247 68148 chr17 73747128 73747128 G A rs61735289 ITGB4 Synonymous SNV P1243P 0.027 0.018 0.027 20 32 7 0.051 8 0 0 0 0 Likely benign 13.96 68149 chr6 56420158 56420158 C T rs62621210 DST Nonsynonymous SNV V2418I 0.013 0.005 0.007 8 15 2 0.021 2 0 0 0 0 21.1 68150 chr6 56480500 56480500 T C rs150191284 DST Nonsynonymous SNV I2589V 0.014 0.01 0.007 8 16 4 0.021 2 0 0 0 0 Benign/Likely benign 14.19 68151 chr6 56481632 56481632 T C rs115542549 DST Synonymous SNV A2211A 0.014 0.01 0.007 8 16 4 0.021 2 0 0 0 0 Benign/Likely benign 13.81 68152 chr17 47376104 47376104 C T rs200647419 ZNF652 Nonsynonymous SNV V498M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.2 68153 chr17 38182450 38182450 C T rs146321670 MED24 Synonymous SNV G635G 0.001 0.013 0 0 1 5 0 0 0 0 0 0 14.21 68154 chr6 56494071 56494071 A G rs112640831 DST Synonymous SNV N947N 0.014 0.01 0.007 8 16 4 0.021 2 0 0 0 0 Benign/Likely benign 1.21 68155 chr6 56505063 56505063 A G rs2144407 DST Synonymous SNV L253L 0.017 0.01 0.01 8 20 4 0.021 3 0 0 0 0 Benign 0.022 68156 chr6 56507489 56507489 A G rs1024196 DST Nonsynonymous SNV L33S 0.017 0.01 0.01 8 20 4 0.021 3 0 0 0 0 Benign 3.746 68157 chr6 56515787 56515787 G A rs41267673 DST Synonymous SNV Y246Y 0.017 0.01 0.01 8 20 4 0.021 3 0 0 0 0 9.064 68158 chr17 76082943 76082943 A T rs35293083 TNRC6C Nonsynonymous SNV T1188S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.2 68159 chr16 89347985 89347985 T C ANKRD11 Synonymous SNV K1655K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 68160 chr17 38712040 38712040 C T rs373108256 CCR7 Nonsynonymous SNV D25N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 68161 chr17 74143408 74143408 C A RNF157-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 18.5 68162 chr6 71571571 71571571 - TGTT rs752380951 B3GAT2 Frameshift insertion V283Nfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 68163 chr17 2238056 2238056 T A TSR1 Nonsynonymous SNV M231L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.404 68164 chr6 7247172 7247172 G A rs373051958 RREB1 Nonsynonymous SNV E1442K 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 12.13 68165 chr17 73910025 73910025 C T rs748082925 FBF1 Nonsynonymous SNV R1033Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.624 68166 chr17 74288577 74288577 C G QRICH2 Nonsynonymous SNV R578P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 68167 chr6 72967952 72967952 G A rs41265493 RIMS1 Synonymous SNV P438P 0.026 0.021 0.027 10 31 8 0.026 8 1 0 0 0 Benign/Likely benign 12.31 68168 chr6 54219368 54219368 T C rs201313951 TINAG Nonsynonymous SNV V395A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.63 68169 chr17 1132706 1132706 C G rs148570528 ABR Nonsynonymous SNV E73D 0.052 0.042 0 14 61 16 0.036 0 16 4 0 3 Benign 10.08 68170 chr6 74138503 74138503 G A rs73754628 CGAS Synonymous SNV I382I 0.026 0.021 0.014 6 31 8 0.015 4 0 0 0 0 13.19 68171 chr17 27957868 27957868 A G rs76770670 SSH2 Synonymous SNV N1421N 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 1.604 68172 chr17 7750177 7750177 - ACCACCACC rs779500270 KDM6B P264_L265insPPP 0.014 0.013 0.003 7 17 5 0.018 1 3 1 0 0 68173 chr17 28419106 28419106 G A rs372266388 EFCAB5 Synonymous SNV A1385A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.29 68174 chr6 63990648 63990648 A G rs35296992 LGSN Nonsynonymous SNV F270L 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 13.42 68175 chr6 75892982 75892982 C - COL12A1 D559Ifs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 68176 chr6 75892984 75892984 - T COL12A1 Frameshift insertion R558Kfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 68177 chr17 5357158 5357158 G C rs147168886 DHX33 Synonymous SNV T257T 0.003 0.005 0.007 5 4 2 0.013 2 0 0 0 0 8.515 68178 chr17 39925852 39925852 C T rs191683892 JUP Nonsynonymous SNV E96K 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Uncertain significance 26.1 68179 chr17 39959627 39959627 G A rs34539402 P3H4 Synonymous SNV A401A 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 9.209 68180 chr17 5462485 5462485 T C rs202109570 NLRP1 Nonsynonymous SNV K511E 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 Uncertain significance 0.002 68181 chr17 74397108 74397108 C T UBE2O Nonsynonymous SNV R293Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 68182 chr17 76486917 76486917 C T DNAH17 Nonsynonymous SNV A2228T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 68183 chr17 39535672 39535672 G A rs112570296 KRT34 Nonsynonymous SNV A312V 0.013 0.008 0 7 15 3 0.018 0 0 0 0 0 22.1 68184 chr17 1633694 1633694 C T rs146081272 WDR81 Nonsynonymous SNV R27C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 33 68185 chr17 56276940 56276940 A C rs35750729 EPX Nonsynonymous SNV K441T 0.035 0.049 0.024 8 41 19 0.021 7 2 1 0 0 5.188 68186 chr17 56283449 56283449 C G rs11548967 MKS1 Nonsynonymous SNV G530R 0.035 0.049 0.017 8 41 19 0.021 5 2 1 0 0 Benign 5.895 68187 chr17 56348106 56348106 T C rs2759 MPO Nonsynonymous SNV I717V 0.032 0.049 0.02 7 38 19 0.018 6 2 1 0 0 11.15 68188 chr17 7485785 7485785 C T rs544166027 LOC100996842 Nonsynonymous SNV M157I 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 3.267 68189 chr17 76521126 76521126 G A rs370638339 DNAH17 Nonsynonymous SNV R1277C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.77 68190 chr6 8652578 8652578 C T rs1328868 HULC 0 0 0.344 0 0 0 0 101 0 0 19 0 3.121 68191 chr17 3352386 3352386 C T rs1056769078 SPATA22 Synonymous SNV K86K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.39 68192 chr17 7496382 7496382 C T rs201194889 FXR2 Nonsynonymous SNV R483Q 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 Likely benign 25.6 68193 chr17 32964975 32964975 G T rs368090515 TMEM132E Synonymous SNV V983V 0.009 0.018 0.02 9 10 7 0.023 6 1 0 1 0 7.853 68194 chr17 41131622 41131622 C T rs34584554 PTGES3L, PTGES3L-AARSD1 Nonsynonymous SNV V66I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 31 68195 chr17 7907016 7907016 C T rs755414746 GUCY2D Synonymous SNV S217S 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 13.37 68196 chr6 89974166 89974166 C T rs369596214 GABRR2 Nonsynonymous SNV V351M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 68197 chr17 79104922 79104922 G A rs374943584 AATK Synonymous SNV D91D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.63 68198 chr17 77044046 77044046 G A rs35035542 C1QTNF1 Nonsynonymous SNV R159Q 0.005 0.01 0.007 10 6 4 0.026 2 0 0 0 0 0.016 68199 chr17 79518110 79518110 T C rs117756453 FAAP100 Nonsynonymous SNV D137G 0.022 0.023 0.034 17 26 9 0.044 10 0 0 0 0 0.768 68200 chr17 33805165 33805165 G A rs117367639 SLFN12L Nonsynonymous SNV P378L 0.028 0.01 0.007 8 33 4 0.021 2 0 0 0 0 1.511 68201 chr17 33805172 33805172 A G rs117580717 SLFN12L Nonsynonymous SNV S376P 0.028 0.01 0.007 8 33 4 0.021 2 0 0 0 0 22.7 68202 chr17 78023723 78023723 C T CCDC40 Stop gain Q292X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 68203 chr17 60130014 60130014 C G rs78565795 MED13 Synonymous SNV L118L 0.009 0.008 0.017 2 11 3 0.005 5 0 0 0 0 11.54 68204 chr17 33998897 33998897 G A rs140959021 AP2B1 Nonsynonymous SNV G705D 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.8 68205 chr6 79688366 79688366 T C rs12209235 PHIP Synonymous SNV T944T 0.054 0.06 0.085 16 63 23 0.041 25 4 1 1 1 7.51 68206 chr6 80816539 80816539 G A rs369761417 BCKDHB Synonymous SNV E43E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.922 68207 chr17 40456393 40456393 C T rs375505587 STAT5A Synonymous SNV C371C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.26 68208 chr17 42476605 42476605 C T rs747151085 GPATCH8 Nonsynonymous SNV R869Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.9 68209 chr17 76823425 76823425 G T rs143701541 USP36 Synonymous SNV I197I 0.034 0.034 0.044 15 40 13 0.038 13 2 1 0 0 14.39 68210 chr17 42476831 42476831 T C rs372775569 GPATCH8 Nonsynonymous SNV S794G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 68211 chr17 3486700 3486700 C T rs200296818 TRPV1 Nonsynonymous SNV G470R 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 12.57 68212 chr17 80039509 80039509 C T rs145866788 FASN Nonsynonymous SNV R2125Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 0.22 68213 chr17 36493586 36493586 A T rs137934209 GPR179 Nonsynonymous SNV S307R 0.003 0.013 0.003 2 4 5 0.005 1 0 1 0 0 Benign 16.93 68214 chr17 19575096 19575096 C T rs61737992 ALDH3A2 Nonsynonymous SNV P424S 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 Benign/Likely benign 6.142 68215 chr7 100218631 100218631 C T rs41295942 TFR2 Nonsynonymous SNV R581H 0.005 0.003 0.014 9 6 1 0.023 4 0 0 0 0 Benign/Likely benign 33 68216 chr7 100346094 100346094 G A rs117406702 ZAN 0.026 0.013 0.041 3 30 5 0.008 12 0 0 1 0 22 68217 chr17 77082320 77082320 C T rs35037969 ENGASE Synonymous SNV P707P 0.014 0.01 0.01 2 17 4 0.005 3 0 0 0 0 9.709 68218 chr6 90360559 90360559 A G rs140535277 MDN1 Nonsynonymous SNV V5308A 0.011 0.005 0.007 2 13 2 0.005 2 0 0 0 0 16.1 68219 chr17 77755729 77755729 C T rs376760822 CBX2 Synonymous SNV L139L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.315 68220 chr17 8024991 8024991 G A rs558811781 HES7 Synonymous SNV P197P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.682 68221 chr17 77755772 77755772 T - rs552892809 CBX2 C154Afs*62 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 68222 chr17 80274142 80274168 CAGGGAGGGCAGAGGCTGCTGGCGGGT - rs779696544 CD7 D172_P180del 0.014 0.026 0.02 7 17 10 0.018 6 0 0 0 0 68223 chr17 4461467 4461467 G A rs77762950 GGT6 Nonsynonymous SNV P410L 0.014 0.023 0.031 6 17 9 0.015 9 0 0 0 2 23.7 68224 chr17 80320077 80320077 C G rs11557867 TEX19 Synonymous SNV L17L 0.017 0.029 0.02 7 20 11 0.018 6 0 1 0 0 3.543 68225 chr17 80367275 80367275 T C rs111690356 OGFOD3 Nonsynonymous SNV K131R 0.014 0.01 0.017 5 16 4 0.013 5 0 0 0 0 13.97 68226 chr17 63957694 63957694 G A rs77905043 CEP112 Nonsynonymous SNV R545C 0.004 0.008 0 0 5 3 0 0 0 0 0 0 34 68227 chr6 90402844 90402844 C T rs114940987 MDN1 Nonsynonymous SNV R3302Q 0.011 0.005 0.007 2 13 2 0.005 2 0 0 0 0 6.179 68228 chr17 78063635 78063635 C T rs118143944 CCDC40 Synonymous SNV I928I 0.004 0.013 0.007 0 5 5 0 2 0 0 0 0 Benign/Likely benign 10.72 68229 chr17 80442722 80442722 T C rs3829567 NARF Synonymous SNV R241R 0.041 0.049 0.058 23 48 19 0.059 17 2 1 0 1 6.242 68230 chr17 80579609 80579609 T C rs74895287 WDR45B Nonsynonymous SNV H165R 0.014 0.013 0.027 5 17 5 0.013 8 0 0 0 0 18.85 68231 chr17 36959002 36959002 G A rs139189793 CWC25 Nonsynonymous SNV R372W 0.018 0.01 0.031 9 21 4 0.023 9 0 0 0 1 25.2 68232 chr17 7909735 7909735 G A rs186508466 GUCY2D Nonsynonymous SNV V361M 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 Uncertain significance 2.251 68233 chr17 44953776 44953776 T C rs117893554 WNT9B Synonymous SNV L256L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.187 68234 chr17 46054107 46054107 A C rs61749926 CDK5RAP3 Synonymous SNV A51A 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 6.285 68235 chr6 97634443 97634443 G C rs201121070 MMS22L Nonsynonymous SNV F438L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 68236 chr6 99374760 99374760 A T rs34316889 FBXL4 Nonsynonymous SNV H35Q 0.045 0.031 0.051 15 53 12 0.038 15 0 0 0 0 Benign 14.12 68237 chr17 79639661 79639661 - GCAGCG rs750563919 CCDC137 Q269_Q270insRQ 0.002 0.005 0 0 2 2 0 0 0 0 0 0 68238 chr17 46266849 46266849 G A rs66753385 SKAP1 Synonymous SNV I98I 0.039 0.042 0.044 16 46 16 0.041 13 3 1 0 0 13.08 68239 chr17 8647015 8647015 G A rs9893451 CCDC42 Nonsynonymous SNV R75C 0.046 0.023 0.027 15 54 9 0.038 8 3 0 0 0 25.3 68240 chr17 8701168 8701168 A - rs772162369 MFSD6L L424Cfs*15 0.009 0.01 0.01 10 11 4 0.026 3 0 0 0 0 68241 chr17 8701171 8701173 GTA - rs773237450 MFSD6L T423del 0.009 0.01 0.01 10 11 4 0.026 3 0 0 0 0 68242 chr17 8701174 8701174 G C rs771825207 MFSD6L Nonsynonymous SNV A422G 0.009 0.01 0.01 10 11 4 0.026 3 0 0 0 0 0.006 68243 chr17 8701177 8701179 TTG - rs766497350 MFSD6L F420_K421delinsL 0.009 0.01 0.01 10 11 4 0.026 3 0 0 0 0 68244 chr17 46688101 46688101 G A rs34513708 HOXB7 Synonymous SNV P60P 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 15.12 68245 chr7 100550424 100550424 C A rs750239834 MUC3A Synonymous SNV T335T 0.003 0.005 0.041 1 3 2 0.003 12 0 0 0 0 12.2 68246 chr17 9479112 9479112 G A rs183889024 STX8 Nonsynonymous SNV P5L 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 25.1 68247 chr7 100550448 100550448 T A rs761866566 MUC3A Synonymous SNV T343T 0.003 0.008 0.122 1 4 3 0.003 36 0 0 0 0 2.741 68248 chr7 100550451 100550451 C G rs750724484 MUC3A Synonymous SNV V344V 0.003 0.01 0.133 1 4 4 0.003 39 0 0 0 0 0.253 68249 chr6 105581444 105581444 A G rs144286946 BVES Synonymous SNV Y3Y 0.011 0.005 0 1 13 2 0.003 0 0 0 0 0 Benign 0.295 68250 chr7 100550453 100550453 C A rs766207482 MUC3A Nonsynonymous SNV T345K 0.006 0.01 0.139 1 7 4 0.003 41 0 0 0 0 4.27 68251 chr7 100550456 100550456 A G rs754928998 MUC3A Nonsynonymous SNV D346G 0.009 0.021 0.16 5 10 8 0.013 47 0 0 0 0 2.4 68252 chr17 79172739 79172739 G A rs145189405 CEP131 Nonsynonymous SNV R409C 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 6.534 68253 chr7 100550469 100550469 A C MUC3A Nonsynonymous SNV K350N 0.039 0.055 0.218 19 46 21 0.049 64 0 0 0 0 0.65 68254 chr17 2235469 2235469 C T rs62066968 TSR1 Nonsynonymous SNV R497Q 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 34 68255 chr7 100550472 100550472 - AG MUC3A Frameshift insertion A352Rfs*7 0.046 0.057 0.221 21 54 22 0.054 65 0 0 0 0 68256 chr7 100550508 100550508 A G rs146219126 MUC3A Synonymous SNV T363T 0 0.003 0.248 0 0 1 0 73 0 0 0 0 0.487 68257 chr17 2323663 2323663 G A rs61753102 METTL16 Synonymous SNV T430T 0.01 0.016 0.017 4 12 6 0.01 5 0 0 0 0 0.263 68258 chr17 25931745 25931745 C T rs55686363 KSR1 Synonymous SNV H535H 0.014 0.01 0.007 12 16 4 0.031 2 0 0 0 0 13.54 68259 chr6 108687496 108687496 C T rs56005804 AFG1L Synonymous SNV N236N 0.078 0.06 0.054 18 92 23 0.046 16 5 1 0 0 11.18 68260 chr17 67305439 67305439 T C rs140656112 ABCA5 Nonsynonymous SNV M145V 0.002 0.016 0 0 2 6 0 0 0 0 0 0 0.757 68261 chr17 4802829 4802829 G A rs56377005 CHRNE Synonymous SNV C322C 0.047 0.039 0.031 13 55 15 0.033 9 0 0 0 0 Benign 8.828 68262 chr6 109803161 109803161 C T rs764285751 ZBTB24 Synonymous SNV V23V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.891 68263 chr17 3937518 3937518 G A rs35511240 ZZEF1 Synonymous SNV N2125N 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 10.26 68264 chr17 4836973 4836973 A G rs6067 GP1BA Synonymous SNV R358R 0.06 0.055 0.054 18 71 21 0.046 16 1 0 0 0 Benign 0.258 68265 chr17 4837779 4837779 G A rs746597991 GP1BA Nonsynonymous SNV R627K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.46 68266 chr17 39296393 39296393 C T rs772636827 KRTAP4-6 Nonsynonymous SNV R116H 0.003 0 0 0 3 0 0 0 0 0 0 0 15.03 68267 chr17 80039096 80039096 C T rs755594667 FASN Nonsynonymous SNV R2180Q 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Uncertain significance 27 68268 chr17 4849284 4849284 G A rs13204 PFN1 Synonymous SNV L112L 0.061 0.049 0.058 18 72 19 0.046 17 1 0 0 0 Benign 5.093 68269 chr17 80274163 80274189 GCGGGTCAGGGAGGGCAGAGGCTGTCT - rs773913196 CD7 Q165_P173del 0.001 0.008 0 0 1 3 0 0 0 0 0 0 68270 chr17 4859237 4859237 T C rs780704553 ENO3 Nonsynonymous SNV V246A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 68271 chr17 8045967 8045967 G A rs374896008 PER1 Nonsynonymous SNV R1087C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 68272 chr17 71434193 71434193 C T rs73347768 SDK2 Nonsynonymous SNV G276S 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Benign 0.66 68273 chr17 48624638 48624638 G A rs62059700 SPATA20 Synonymous SNV A23A 0.024 0.031 0.007 11 28 12 0.028 2 1 1 0 0 11.34 68274 chr17 9490108 9490108 A G rs780714617 CFAP52 Nonsynonymous SNV N54D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.66 68275 chr17 9549381 9549381 C T rs115314145 USP43 Synonymous SNV T144T 0.017 0.013 0.017 6 20 5 0.015 5 0 0 1 0 20.9 68276 chr17 80790094 80790094 G A rs34808874 ZNF750 Synonymous SNV P79P 0.001 0.01 0 0 1 4 0 0 0 0 0 0 2.526 68277 chr17 48712336 48712336 G C rs201886646 ABCC3 Nonsynonymous SNV K13N 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 21.9 68278 chr17 80897308 80897308 G A rs373699857 TBCD Synonymous SNV A1145A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 7.129 68279 chr17 4910337 4910337 G A rs35919356 KIF1C Synonymous SNV T431T 0.014 0.013 0.01 2 16 5 0.005 3 0 0 0 0 Benign 5.429 68280 chr17 80919028 80919028 G A rs553662197 B3GNTL1 Synonymous SNV Y32Y 0.001 0.01 0 0 1 4 0 0 0 0 0 0 4.824 68281 chr17 4883045 4883045 C T rs79255821 CAMTA2 Synonymous SNV P526P 0.06 0.047 0.051 17 70 18 0.044 15 0 0 0 0 10.63 68282 chr17 81043090 81043090 C T rs79856013 METRNL Synonymous SNV G149G 0.001 0.01 0 0 1 4 0 0 0 0 0 0 15.76 68283 chr17 51900430 51900430 T C rs372880361 KIF2B Synonymous SNV C12C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 68284 chr6 117662311 117662311 A G rs766225570 ROS1 Nonsynonymous SNV V1689A 0.003 0 0 0 3 0 0 0 0 0 0 0 20.3 68285 chr17 54520282 54520282 G T rs138216458 ANKFN1 Nonsynonymous SNV A366S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 30 68286 chr17 56536257 56536257 G A rs117817367 HSF5 Nonsynonymous SNV P531L 0.01 0.005 0.003 4 12 2 0.01 1 0 0 0 0 25.5 68287 chr17 7297471 7297471 G A rs202013115 TMEM256-PLSCR3 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 10.07 68288 chr17 55729497 55729497 G A rs199901231 MSI2 Synonymous SNV A233A 0.017 0.016 0 3 20 6 0.008 0 0 0 0 1 15.79 68289 chr17 9729413 9729413 G A rs115829319 GLP2R Synonymous SNV G11G 0.014 0.013 0.02 6 17 5 0.015 6 0 0 0 0 1.368 68290 chr18 21141415 21141415 G A rs143656971 NPC1 Synonymous SNV D180D 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign 10.54 68291 chr17 40696233 40696233 C A rs86312 NAGLU Nonsynonymous SNV R737S 0.018 0.016 0 2 21 6 0.005 0 0 0 0 0 Benign 24.1 68292 chr7 102782110 102782110 C G rs146496282 RPL19P12 0 0 0.02 0 0 0 0 6 0 0 0 0 6.656 68293 chr7 102782190 102782190 T C RPL19P12 0 0 0.429 0 0 0 0 126 0 0 0 0 6.057 68294 chr7 102782203 102782203 A G RPL19P12 0 0 0.395 0 0 0 0 116 0 0 0 0 2.11 68295 chr18 31324051 31324051 C T rs149577667 ASXL3 Synonymous SNV V1413V 0.014 0.013 0.014 12 16 5 0.031 4 0 0 0 1 2.843 68296 chr7 102782207 102782208 GG - RPL19P12 0 0 0.344 0 0 0 0 101 0 0 0 0 68297 chr17 56291220 56291220 T C MKS1 Nonsynonymous SNV K16E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 68298 chr7 102782209 102782209 G T RPL19P12 0 0 0.344 0 0 0 0 101 0 0 0 0 3.376 68299 chr7 102782393 102782393 A G rs1861726 RPL19P12 0 0 0.833 0 0 0 0 245 0 0 122 0 5.036 68300 chr7 102953544 102953544 T C rs61749913 DNAJC2 Synonymous SNV P494P 0.028 0.023 0.017 12 33 9 0.031 5 1 0 0 0 1.015 68301 chr18 31673454 31673454 G A rs143298317 NOL4 Synonymous SNV P249P 0.01 0.005 0.003 4 12 2 0.01 1 0 0 0 0 8.363 68302 chr17 39675037 39675037 C T rs77281280 KRT15 Nonsynonymous SNV G15S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.99 68303 chr17 58121420 58121420 C T rs373049681 HEATR6 Nonsynonymous SNV R1017H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 68304 chr17 7330307 7330307 C T rs146528431 SPEM2 Nonsynonymous SNV R333W 0.014 0.01 0.017 1 16 4 0.003 5 0 0 0 0 21 68305 chr17 40850881 40850881 C G rs773551154 CNTNAP1 Nonsynonymous SNV R1370G 0.007 0 0 0 8 0 0 0 0 0 0 0 13.46 68306 chr17 40975933 40975933 G A rs147836387 MIR6781 0.007 0 0 0 8 0 0 0 0 0 0 0 5.743 68307 chr17 40996887 40996887 G A rs139603521 AOC2 Nonsynonymous SNV A82T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.19 68308 chr17 34091035 34091035 C - C17orf50 L10Cfs*47 0.001 0 0 1 1 0 0.003 0 0 0 0 0 68309 chr18 12951878 12951878 G A rs117978838 SEH1L Nonsynonymous SNV D46N 0.014 0.029 0.017 3 17 11 0.008 5 0 1 0 0 23 68310 chr6 129691132 129691132 C G rs17057184 LAMA2 Synonymous SNV T1652T 0.064 0.083 0.065 28 75 32 0.072 19 2 2 1 0 Benign 10.83 68311 chr17 39881250 39881250 C T rs34453339 HAP1 Synonymous SNV P504P 0.014 0.01 0.02 6 17 4 0.015 6 0 0 0 0 11.95 68312 chr17 39881299 39881299 G A rs34853043 HAP1 Nonsynonymous SNV A488V 0.014 0.01 0.02 6 17 4 0.015 6 0 0 0 0 19.26 68313 chr17 73559233 73559233 G A rs143338056 LLGL2 Nonsynonymous SNV V223M 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 20.7 68314 chr17 39887770 39887770 G A rs116828637 HAP1 Synonymous SNV L356L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 11.2 68315 chr17 58156064 58156064 G A rs3744376 HEATR6 Nonsynonymous SNV A71V 0.06 0.042 0.058 34 71 16 0.087 17 4 0 1 2 16.08 68316 chr17 6014188 6014188 C T rs74858033 WSCD1 Synonymous SNV H369H 0.017 0.005 0.003 6 20 2 0.015 1 0 0 0 0 15.84 68317 chr18 2891166 2891166 G A rs76428378 EMILIN2 Synonymous SNV K347K 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 Benign 9.13 68318 chr17 58531809 58531809 T C APPBP2 Nonsynonymous SNV T327A 0.003 0 0 0 4 0 0 0 0 0 0 0 11.62 68319 chr17 39978603 39978603 C T FKBP10 Synonymous SNV V564V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 11.76 68320 chr18 18964286 18964286 G A rs185578147 GREB1L Nonsynonymous SNV E93K 0.001 0.01 0.007 3 1 4 0.008 2 0 0 0 0 25.5 68321 chr17 39985048 39985048 A G rs782693877 NT5C3B Synonymous SNV N187N 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 9.437 68322 chr17 42254298 42254298 C T rs141590219 ASB16 Synonymous SNV A254A 0.013 0.003 0 10 15 1 0.026 0 0 0 0 0 12.73 68323 chr6 133046003 133046003 G A rs45513492 VNN3 Synonymous SNV Y23Y 0.03 0.018 0.02 6 35 7 0.015 6 1 0 0 0 13.88 68324 chr18 29782953 29782953 A G rs71361372 MEP1B Nonsynonymous SNV I116M 0.01 0.021 0.003 6 12 8 0.015 1 0 0 0 0 25 68325 chr18 29788205 29788205 G A MEP1B Nonsynonymous SNV S297N 0 0.005 0 0 0 2 0 0 0 0 0 0 0.02 68326 chr17 36704866 36704866 G A SRCIN1 Nonsynonymous SNV A1066V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 31 68327 chr7 122338970 122338970 C T rs71574716 RNF133 Star tloss M1? 0.018 0.016 0.02 3 21 6 0.008 6 0 0 0 0 24.1 68328 chr17 36708977 36708977 C T rs374822347 SRCIN1 Synonymous SNV T772T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 17.93 68329 chr18 3188778 3188778 C T rs139422575 MYOM1 Nonsynonymous SNV E247K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 26.2 68330 chr6 136681130 136681130 C T rs147645484 MAP7 Nonsynonymous SNV A521T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 68331 chr17 36869027 36869027 C T rs367646459 MLLT6 Synonymous SNV V268V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 15.07 68332 chr18 25616462 25616462 G A rs55858602 CDH2 Synonymous SNV N17N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.67 68333 chr17 36873845 36873845 T G rs373588898 MLLT6 Synonymous SNV S604S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 9.113 68334 chr17 74013881 74013881 C T rs776701020 EVPL Nonsynonymous SNV R572Q 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 28.6 68335 chr17 4109761 4109761 T A rs201117792 ANKFY1 Nonsynonymous SNV E293D 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.1 68336 chr17 61770963 61770963 G A rs149538399 MAP3K3 Synonymous SNV E565E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.813 68337 chr17 61843337 61843337 T C CCDC47 Nonsynonymous SNV T67A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 68338 chr17 43319434 43319434 - CCG rs570361021 FMNL1 P612_G613insP 0.054 0.036 0.037 15 63 14 0.038 11 3 0 0 1 68339 chr17 37815024 37815024 C T rs142935105 STARD3 Synonymous SNV S181S 0.015 0.003 0.017 6 18 1 0.015 5 0 0 0 0 15.14 68340 chr17 62045451 62045451 G A rs80338952 SCN4A Nonsynonymous SNV T323M 0.01 0.013 0 3 12 5 0.008 0 0 0 0 0 Benign/Likely benign 24.9 68341 chr17 37815726 37815726 A G rs140449782 STARD3 Nonsynonymous SNV I221V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.042 68342 chr17 4445085 4445085 G A rs62066360 MYBBP1A Synonymous SNV V1063V 0.086 0.049 0.061 19 101 19 0.049 18 3 0 0 0 8.148 68343 chr18 47429185 47429185 C T rs372432070 MYO5B Nonsynonymous SNV A864T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 68344 chr17 74469779 74469779 T C rs73998915 RHBDF2 Nonsynonymous SNV M562V 0.027 0.031 0.024 1 32 12 0.003 7 0 0 0 0 Likely benign 13.26 68345 chr17 44953856 44953856 G C rs754474 WNT9B Synonymous SNV V282V 0.021 0.016 0.034 7 25 6 0.018 10 0 0 0 0 6.603 68346 chr17 45198343 45198343 C T rs731790 CDC27 Synonymous SNV A714A 0.047 0.036 0.061 23 55 14 0.059 18 0 0 1 2 11.54 68347 chr18 28993484 28993484 G A rs186256193 DSG4 Nonsynonymous SNV V1036I 0.005 0.01 0 0 6 4 0 0 0 0 0 0 0.002 68348 chr7 126882788 126882788 G A rs146190169 GRM8 Synonymous SNV S157S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.97 68349 chr7 127224872 127224872 G A rs35322201 GCC1 Nonsynonymous SNV A122V 0.018 0.029 0.02 7 21 11 0.018 6 0 1 0 0 0.375 68350 chr18 42533196 42533196 G A rs141788618 SETBP1 Synonymous SNV G1297G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.818 68351 chr18 48703403 48703403 G A MEX3C Nonsynonymous SNV P433L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.62 68352 chr6 148840747 148840747 C T rs768804300 SASH1 Synonymous SNV G70G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.17 68353 chr17 75494731 75494731 G A rs367775215 SEPTIN9 Synonymous SNV P472P 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 Benign 13.48 68354 chr17 42476539 42476539 C T rs199963233 GPATCH8 Nonsynonymous SNV R891Q 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 23.3 68355 chr17 76047228 76047228 G C TNRC6C Synonymous SNV G695G 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 0.003 68356 chr17 4648628 4648628 G A rs148980412 ZMYND15 Nonsynonymous SNV R633H 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Likely benign 34 68357 chr17 42982324 42982324 C T rs555402721 FAM187A Nonsynonymous SNV S376L 0.013 0.013 0.007 2 15 5 0.005 2 0 0 0 0 8.094 68358 chr17 76133356 76133356 G A rs150546646 TMC8 Nonsynonymous SNV V390I 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 Likely benign 8.156 68359 chr7 130041748 130041748 G C rs143303575 CEP41 Nonsynonymous SNV P190A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 68360 chr18 55335786 55335786 - AAA rs56032749 LOC100505549 0.005 0 0 4 6 0 0.01 0 3 0 0 2 68361 chr17 44067341 44067341 C T rs143956882 MAPT Nonsynonymous SNV S427F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 68362 chr17 673193 673193 G A rs139770786 GLOD4 Synonymous SNV D193D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.79 68363 chr17 76490718 76490718 G C rs201021773 DNAH17 Nonsynonymous SNV P2076R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 68364 chr6 151153188 151153188 C T rs148507761 PLEKHG1 Nonsynonymous SNV R942W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 68365 chr7 134678364 134678364 G T rs1040398992 AGBL3 Nonsynonymous SNV G82V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 68366 chr6 151673871 151673871 G A rs115098997 AKAP12 Nonsynonymous SNV A1344T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 23 68367 chr18 346546 346546 G A rs568456291 COLEC12 Nonsynonymous SNV T359M 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 15.18 68368 chr18 50683727 50683727 T A rs45447193 DCC Synonymous SNV A421A 0.022 0.026 0.034 13 26 10 0.033 10 0 0 0 0 11.15 68369 chr6 151907027 151907027 G A rs41290243 CCDC170 Nonsynonymous SNV V366I 0.031 0.023 0.014 12 36 9 0.031 4 2 0 0 0 18.97 68370 chr7 135099136 135099136 C T rs371838377 CNOT4 Nonsynonymous SNV A169T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 68371 chr17 45412629 45412629 C T rs34134208 EFCAB13 Nonsynonymous SNV T33I 0.017 0.016 0.01 5 20 6 0.013 3 0 0 0 0 5.912 68372 chr18 5890939 5890939 G A TMEM200C Nonsynonymous SNV S375L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 68373 chr7 135635404 135635404 A G rs35513241 MTPN Synonymous SNV P71P 0.026 0.013 0.024 14 31 5 0.036 7 1 0 0 1 8.328 68374 chr17 39222068 39222068 C G rs508285 KRTAP2-4 Nonsynonymous SNV L10F 0.023 0.016 0 7 27 6 0.018 0 7 1 0 2 8.665 68375 chr17 48070896 48070896 C T rs374786590 DLX3 Synonymous SNV K128K 0.009 0.005 0 0 10 2 0 0 0 0 0 0 21.1 68376 chr7 138874088 138874088 C T rs75645485 TTC26 Nonsynonymous SNV P481S 0.004 0.013 0.007 5 5 5 0.013 2 0 0 0 0 14.47 68377 chr17 4837210 4837210 A G rs2586529 GP1BA Synonymous SNV P437P 0.035 0.031 0.02 17 41 12 0.044 6 13 5 3 8 Benign 0.053 68378 chr6 152690627 152690627 C T rs757280513 SYNE1 Synonymous SNV R3217R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.31 68379 chr18 47323888 47323888 G A rs531271159 ACAA2 Nonsynonymous SNV T87M 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 28.8 68380 chr7 13935560 13935560 C G ETV1 Nonsynonymous SNV E397D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 68381 chr6 153077332 153077332 C T rs34903499 VIP Synonymous SNV N133N 0.014 0.018 0.024 7 16 7 0.018 7 0 0 0 0 Benign 3.771 68382 chr18 47511113 47511113 C A rs17659179 MYO5B Nonsynonymous SNV K307N 0.03 0.029 0.031 11 35 11 0.028 9 2 0 0 0 Benign/Likely benign 25.2 68383 chr17 46655364 46655364 G A rs201040786 HOXB4 Synonymous SNV P106P 0.007 0.005 0.027 3 8 2 0.008 8 0 0 0 0 6.04 68384 chr18 56204323 56204323 A C rs143254374 ALPK2 Nonsynonymous SNV H1032Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.632 68385 chr18 47796399 47796399 A C rs183864846 MBD1 Nonsynonymous SNV I545M 0.014 0.016 0.007 4 16 6 0.01 2 0 0 0 0 13.29 68386 chr17 4693253 4693253 T C rs199986886 GLTPD2 Nonsynonymous SNV S180P 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 25.8 68387 chr17 48733288 48733288 C T rs145596140 ABCC3 Synonymous SNV V47V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.15 68388 chr18 52609905 52609905 C A rs763317765 CCDC68 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.8 68389 chr6 158571611 158571611 A T rs112780453 SERAC1 Nonsynonymous SNV F47I 0.018 0.023 0.027 11 21 9 0.028 8 1 0 0 0 Benign 28.4 68390 chr17 49338101 49338101 C T rs369956662 UTP18 Synonymous SNV A52A 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 12.66 68391 chr17 4937169 4937169 G A rs145524474 SLC52A1 Synonymous SNV V205V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.382 68392 chr17 72786377 72786377 C T rs117699067 TMEM104 Synonymous SNV S96S 0.008 0.005 0.017 1 9 2 0.003 5 0 0 0 0 Benign 21.4 68393 chr17 78811770 78811770 G A rs113149562 RPTOR Synonymous SNV T395T 0.006 0.013 0.007 3 7 5 0.008 2 0 0 0 0 Benign 9.033 68394 chr17 72559000 72559000 G A rs72844312 CD300H Nonsynonymous SNV S152F 0.032 0.021 0 10 38 8 0.026 0 0 0 0 0 6.469 68395 chr17 79100340 79100340 C T rs139267162 AATK Synonymous SNV L111L 0.005 0.013 0.017 2 6 5 0.005 5 0 0 0 0 13.38 68396 chr7 1479642 1479642 C A rs112889477 MICALL2 Nonsynonymous SNV A629S 0.023 0.005 0.027 3 27 2 0.008 8 0 0 1 0 0.011 68397 chr18 6301903 6301903 G A rs74645110 L3MBTL4 Synonymous SNV H42H 0.018 0.021 0.02 5 21 8 0.013 6 0 0 0 0 0.112 68398 chr17 5485306 5485306 G A rs144081440 NLRP1 Synonymous SNV N175N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.249 68399 chr7 148312423 148312423 G A rs59748690 C7orf33 Nonsynonymous SNV R155H 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 15.83 68400 chr17 48625801 48625801 A G rs145670888 SPATA20 Nonsynonymous SNV N79D 0.009 0.01 0.014 3 11 4 0.008 4 0 0 0 0 28 68401 chr17 72920861 72920861 C T rs77742163 OTOP2 Nonsynonymous SNV T45M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 68402 chr17 72920910 72920910 - GT rs767443599 OTOP2 Frameshift insertion F63Cfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 68403 chr17 7330235 7330235 G T rs377350715 SPEM2 Nonsynonymous SNV D309Y 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.7 68404 chr17 4936872 4936872 G A rs746258172 SLC52A1 Synonymous SNV S304S 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 10.05 68405 chr17 56389260 56389260 G A TSPOAP1 Synonymous SNV L914L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.837 68406 chr7 149462627 149462627 G A rs141214897 ZNF467 Nonsynonymous SNV H322Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 68407 chr18 57106981 57106981 T A rs191592668 CCBE1 Synonymous SNV P281P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.832 68408 chr7 149482764 149482764 C T rs75029939 SSPO 0.058 0.042 0.085 41 68 16 0.105 25 1 0 1 0 17.26 68409 chr7 149485455 149485455 G A rs2079335 SSPO 0.057 0.049 0.085 42 67 19 0.108 25 1 0 2 0 12.28 68410 chr7 149493577 149493577 A T rs73727613 SSPO 0.015 0.016 0.017 6 18 6 0.015 5 0 0 0 0 11.45 68411 chr7 149497421 149497421 C T rs56921891 SSPO 0.036 0.029 0.034 9 42 11 0.023 10 1 0 0 0 6.441 68412 chr17 73096217 73096217 C T SLC16A5 Synonymous SNV T153T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.643 68413 chr17 7324809 7324809 G A rs758729774 SPEM1 Nonsynonymous SNV R272Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 68414 chr18 61471662 61471662 G T rs34505921 SERPINB7 Synonymous SNV S295S 0.022 0.023 0.02 8 26 9 0.021 6 0 0 0 0 6.235 68415 chr18 61562554 61562554 C A rs200884637 SERPINB2 Nonsynonymous SNV N75K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 68416 chr18 61570178 61570178 G A rs376370601 SERPINB2 Nonsynonymous SNV S296N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 68417 chr7 150772546 150772546 G T rs781439759 SLC4A2 Nonsynonymous SNV Q1075H 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 68418 chr18 61587053 61587053 G A rs17072146 SERPINB10 Nonsynonymous SNV G135D 0.024 0.034 0.034 14 28 13 0.036 10 0 0 0 0 14 68419 chr18 74625806 74625806 G A rs199929649 ZNF236 Nonsynonymous SNV G1005S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.07 68420 chr7 151504019 151504019 T C rs9648725 LOC644090 Nonsynonymous SNV L13P 0 0 0.296 0 0 0 0 87 0 0 11 0 0.23 68421 chr17 74283882 74283882 T C rs148718971 QRICH2 Nonsynonymous SNV R1133G 0.004 0.008 0 0 5 3 0 0 0 0 0 0 25.4 68422 chr18 63530140 63530140 C T rs17711596 CDH7 Synonymous SNV V617V 0.034 0.039 0.01 14 40 15 0.036 3 3 1 0 0 9.731 68423 chr18 66564514 66564514 G C rs117721069 CCDC102B Nonsynonymous SNV R371T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.543 68424 chr17 8172313 8172313 G A rs372367868 PFAS Nonsynonymous SNV E1250K 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 18.88 68425 chr18 77894865 77894865 C A rs138162057 ADNP2 Nonsynonymous SNV N523K 0.014 0.01 0.017 3 16 4 0.008 5 0 0 0 0 0.044 68426 chr18 77918176 77918176 C T rs1007061300 PARD6G Synonymous SNV L203L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 68427 chr7 156432673 156432673 C T rs144112034 LINC01006 0 0 0.034 0 0 0 0 10 0 0 0 0 4.089 68428 chr7 156556385 156556385 G C rs138255184 LMBR1 Synonymous SNV A83A 0.017 0.018 0.027 8 20 7 0.021 8 0 0 0 0 Benign 10.94 68429 chr17 62496129 62496129 T C rs368526688 DDX5 Nonsynonymous SNV N586S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.14 68430 chr18 9255471 9255471 A G rs114230285 ANKRD12 Nonsynonymous SNV T713A 0.007 0.013 0.007 0 8 5 0 2 0 0 0 0 0.054 68431 chr7 156976574 156976574 G C rs779936054 UBE3C Nonsynonymous SNV A332P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 68432 chr7 156979615 156979615 C T rs143608582 UBE3C Synonymous SNV L411L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.099 68433 chr17 900427 900427 A G rs143321619 TIMM22 Synonymous SNV T15T 0.009 0.018 0.007 2 10 7 0.005 2 0 0 0 0 Benign 0.047 68434 chr17 63533919 63533919 T C rs115931022 AXIN2 Nonsynonymous SNV N412S 0.013 0.013 0 1 15 5 0.003 0 0 0 0 0 Benign 0.001 68435 chr18 72006024 72006024 T C rs143866816 C18orf63 Synonymous SNV H192H 0.016 0.01 0.017 10 19 4 0.026 5 0 0 0 0 0.141 68436 chr17 6023882 6023882 G A rs148883242 WSCD1 Synonymous SNV P543P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.38 68437 chr18 72109248 72109248 A C rs756947052 DIPK1C Nonsynonymous SNV F327C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 68438 chr17 76098601 76098601 C T TNRC6C Synonymous SNV L1516L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.3 68439 chr18 72343402 72343402 G T rs200158544 ZNF407 Nonsynonymous SNV V143F 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 19.71 68440 chr7 1626809 1626809 C T rs762859467 PSMG3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.135 68441 chr18 74083514 74083514 G A rs371545149 ZNF516 Nonsynonymous SNV T1091M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 68442 chr17 4448061 4448061 G A rs368578952 MYBBP1A Synonymous SNV R822R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.27 68443 chr17 65105257 65105257 C T rs117043746 HELZ Synonymous SNV S1489S 0.027 0.036 0.041 12 32 14 0.031 12 1 0 1 0 11.11 68444 chr17 76423121 76423121 T C rs770607295 DNAH17 Synonymous SNV A4219A 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 5.552 68445 chr17 76455265 76455265 C T rs74335865 DNAH17 Nonsynonymous SNV D3227N 0.019 0.016 0.007 7 22 6 0.018 2 0 0 0 1 19.98 68446 chr17 45822633 45822633 C T rs151279999 TBX21 Synonymous SNV S503S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 15.49 68447 chr17 6328964 6328964 C A rs150427474 AIPL1 Nonsynonymous SNV R261L 0.009 0.013 0.003 4 11 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 68448 chr17 66416504 66416504 T C rs61999318 ARSG Nonsynonymous SNV I493T 0.014 0 0 4 17 0 0.01 0 0 0 0 0 Likely benign 23.6 68449 chr18 77170428 77170428 C T rs150374931 NFATC1 Synonymous SNV N51N 0.003 0.013 0.007 4 3 5 0.01 2 0 0 0 0 Benign 8.437 68450 chr7 21882252 21882252 G A rs72657400 DNAH11 Synonymous SNV P3594P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.78 68451 chr18 77455227 77455227 C T rs115044443 CTDP1 Nonsynonymous SNV A106V 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 17.82 68452 chr7 4827835 4827835 C T rs749763325 AP5Z1 Nonsynonymous SNV A346V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.343 68453 chr17 67017930 67017930 T C rs17684521 ABCA9 Nonsynonymous SNV N785S 0.022 0.026 0.02 6 26 10 0.015 6 1 0 0 0 13.39 68454 chr18 23738127 23738127 T C rs149476347 PSMA8 Synonymous SNV S132S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 6.946 68455 chr7 2290314 2290314 C T rs12699806 NUDT1 Synonymous SNV L112L 0 0 0.486 0 0 0 0 143 0 0 55 0 2.689 68456 chr7 2290317 2290317 T G rs60298419 NUDT1 Nonsynonymous SNV D113E 0 0 0.49 0 0 0 0 144 0 0 55 0 2.839 68457 chr7 23236797 23236797 C G rs1637215 NUP42 Nonsynonymous SNV C205W 0.037 0.039 0.041 12 43 15 0.031 12 2 0 0 0 13.72 68458 chr7 23624570 23624570 G C rs227933 CLK2P1 0 0 0.51 0 0 0 0 150 0 0 36 0 0.242 68459 chr7 23625993 23625993 C T rs34576444 CLK2P1 0 0 0.184 0 0 0 0 54 0 0 9 0 6.601 68460 chr17 77043894 77043894 C T rs35435268 C1QTNF1 Synonymous SNV P108P 0.043 0.044 0.041 12 50 17 0.031 12 0 0 0 0 15.07 68461 chr19 12187151 12187151 C G rs146604057 ZNF844 Nonsynonymous SNV P406A 0.017 0.034 0.037 2 20 13 0.005 11 0 0 0 0 0.003 68462 chr17 7759239 7759239 A C rs76162631 TMEM88 Nonsynonymous SNV I121L 0.027 0.039 0.027 11 32 15 0.028 8 0 0 0 0 2.784 68463 chr17 6524149 6524149 T C rs200801628 KIAA0753 Nonsynonymous SNV Q126R 0.007 0.005 0 0 8 2 0 0 0 0 0 0 3.859 68464 chr18 28934464 28934464 C A DSG1 Nonsynonymous SNV P769T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.02 68465 chr17 7735934 7735934 G A rs61745181 DNAH2 Nonsynonymous SNV R4255Q 0.035 0.034 0.044 9 41 13 0.023 13 1 0 0 0 29.2 68466 chr19 12740011 12740011 A G ZNF791 Synonymous SNV Q556Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.559 68467 chr17 7751859 7751864 CACCAC - rs59627144 KDM6B T761_T762del 0.043 0.047 0.034 11 51 18 0.028 10 1 0 0 0 68468 chr7 6066450 6066450 T C rs2640 EIF2AK1 Nonsynonymous SNV K557R 0.033 0.055 0.041 16 39 21 0.041 12 1 2 0 0 24 68469 chr17 71166349 71166349 G A rs777402889 SSTR2 Synonymous SNV V297V 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 4.121 68470 chr17 6683264 6683264 G A rs150934591 FBXO39 Nonsynonymous SNV R26H 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 16.09 68471 chr18 31314353 31314353 A G rs111494780 ASXL3 Synonymous SNV K352K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.824 68472 chr7 27185520 27185520 G A rs17500863 HOXA6 Synonymous SNV S153S 0.023 0.023 0.034 2 27 9 0.005 10 1 1 0 0 9.025 68473 chr7 27203185 27203185 C G rs17500987 HOXA10-HOXA9 0.024 0.023 0.034 4 28 9 0.01 10 1 1 0 0 0.684 68474 chr17 78176044 78176044 C T rs117918077 CARD14 Nonsynonymous SNV R682W 0.019 0.008 0.02 9 22 3 0.023 6 0 0 0 0 Benign 35 68475 chr17 6909838 6909838 A G rs2307214 ALOX12 Synonymous SNV Q484Q 0.033 0.029 0.034 10 39 11 0.026 10 1 0 1 0 0.5 68476 chr18 34376830 34376830 C T rs117567703 TPGS2 Nonsynonymous SNV G238S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.4 68477 chr17 7826818 7826818 C T rs567367025 KCNAB3 Nonsynonymous SNV V365M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 68478 chr17 48653642 48653642 G A rs200317339 CACNA1G Nonsynonymous SNV G627R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 17.17 68479 chr19 1506135 1506135 C T rs142558769 ADAMTSL5 Nonsynonymous SNV R432H 0.014 0.018 0.024 13 17 7 0.033 7 0 0 0 0 28.8 68480 chr17 78356830 78356830 G T rs61741961 RNF213 Nonsynonymous SNV W4677L 0.011 0.003 0.007 2 13 1 0.005 2 0 0 0 0 Benign 28 68481 chr7 16900195 16900195 G C rs201269935 AGR3 Nonsynonymous SNV T127R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 68482 chr19 13035732 13035732 G A rs201276620 FARSA Nonsynonymous SNV R338C 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Uncertain significance 24.3 68483 chr19 13249022 13249022 C T rs147213591 NACC1 Synonymous SNV D462D 0.01 0.013 0 0 12 5 0 0 0 0 0 0 Benign 16.29 68484 chr18 43669618 43669618 T C rs113278662 ATP5F1A Synonymous SNV P138P 0.007 0.013 0.01 4 8 5 0.01 3 0 0 0 0 Benign 6.85 68485 chr19 1370742 1370742 G A rs34502536 PWWP3A Nonsynonymous SNV G483R 0.011 0.013 0.024 4 13 5 0.01 7 0 0 0 0 23.4 68486 chr17 7950958 7950958 G A rs61312861 ALOX15B Synonymous SNV K478K 0.014 0.003 0.014 6 16 1 0.015 4 0 0 0 0 6.432 68487 chr7 20199598 20199598 G T MACC1 Nonsynonymous SNV T129N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 68488 chr7 20201379 20201379 T C rs748131372 MACC1 Nonsynonymous SNV N36S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 68489 chr19 14141554 14141554 G A rs200786904 RLN3 Nonsynonymous SNV D75N 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 7.988 68490 chr17 79870383 79870383 T A rs746318408 SIRT7 Nonsynonymous SNV D371V 0.012 0.013 0 8 14 5 0.021 0 0 0 0 0 9.181 68491 chr19 14231438 14231438 G A rs759365999 ASF1B Nonsynonymous SNV R148C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 68492 chr19 11098463 11098463 A C rs547268941 SMARCA4 Synonymous SNV P327P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 2.002 68493 chr7 42063171 42063171 C G rs35488756 GLI3 Nonsynonymous SNV G465R 0.016 0.021 0.027 6 19 8 0.015 8 1 0 2 0 Benign/Likely benign 26.5 68494 chr7 4285329 4285329 C T rs115134574 SDK1 Synonymous SNV P578P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.91 68495 chr17 73036233 73036271 GGCACGGGAACCTTCAGCGCATTAAACTACAAACACAAG - rs775132837 ATP5PD F74Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 68496 chr19 16001215 16001215 C A rs3093153 CYP4F2 Nonsynonymous SNV G185V 0.058 0.029 0.048 26 68 11 0.067 14 3 0 0 1 23.2 68497 chr19 11319669 11319669 A G rs201738818 DOCK6 Nonsynonymous SNV V1621A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 68498 chr7 43982139 43982139 C T rs929380 POLR2J4 0 0 0.296 0 0 0 0 87 0 0 14 0 3.324 68499 chr17 73485707 73485707 G A rs34364349 TMEM94 Synonymous SNV G316G 0.078 0.073 0.044 25 92 28 0.064 13 3 1 0 0 10.63 68500 chr7 44098033 44098033 C T rs147233974 DBNL Nonsynonymous SNV T133M 0.01 0.023 0.01 3 12 9 0.008 3 0 0 0 0 23.2 68501 chr7 22771156 22771156 C T rs2069849 IL6 Synonymous SNV F125F 0.009 0 0.007 2 11 0 0.005 2 0 0 0 0 10.42 68502 chr17 73487533 73487533 C T rs76073955 TMEM94 Synonymous SNV P471P 0.078 0.073 0.041 27 92 28 0.069 12 3 1 0 0 15.37 68503 chr18 55024582 55024582 A G rs780828505 ST8SIA3 Synonymous SNV A247A 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 3.051 68504 chr19 12154992 12154992 T C ZNF878 Synonymous SNV S408S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.701 68505 chr7 44685099 44685099 G A rs41280648 OGDH Synonymous SNV S132S 0.072 0.076 0.099 30 85 29 0.077 29 2 0 2 0 Benign 12.09 68506 chr19 1231036 1231036 G T rs549881842 CBARP Synonymous SNV P406P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.654 68507 chr17 79899045 79899045 G A rs771108797 MYADML2 Synonymous SNV Y191Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 68508 chr19 15061022 15061022 G A rs145925971 SLC1A6 Synonymous SNV N560N 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 9.148 68509 chr17 56280460 56280460 G A rs753697654 EPX Nonsynonymous SNV R576H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 68510 chr7 45141184 45141184 C T rs148441357 TBRG4 Nonsynonymous SNV E423K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 68511 chr17 80195183 80195183 C T SLC16A3 Synonymous SNV G179G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 68512 chr17 73663524 73663524 C T rs8071553 SAP30BP Synonymous SNV G24G 0.02 0.016 0 3 23 6 0.008 0 0 0 0 0 21.6 68513 chr17 8053916 8053916 G A rs72845601 PER1 Nonsynonymous SNV P37S 0.006 0.005 0.007 5 7 2 0.013 2 0 0 0 0 15.92 68514 chr7 27135317 27135322 TGGTGG - rs757334841 HOXA1 H71_H72del 0.002 0 0 0 2 0 0 0 0 0 0 0 68515 chr7 27195857 27195857 T C rs35510017 HOXA7 Nonsynonymous SNV K103R 0.009 0.003 0.017 4 11 1 0.01 5 0 0 0 0 22.8 68516 chr17 80885156 80885156 A G rs202149526 TBCD Nonsynonymous SNV M856V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Likely benign 5.549 68517 chr7 4798730 4798730 C T rs76636351 FOXK1 Synonymous SNV S431S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 18.03 68518 chr19 1531869 1531869 C T rs118008362 PLK5 Nonsynonymous SNV A234V 0.02 0.029 0.014 5 23 11 0.013 4 0 0 0 0 20.1 68519 chr17 81052130 81052130 A G rs142120953 METRNL Nonsynonymous SNV H249R 0.035 0.013 0.014 15 41 5 0.038 4 1 0 0 0 Benign 0.001 68520 chr17 57126622 57126622 C T rs772949943 TRIM37 Nonsynonymous SNV E329K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.6 68521 chr17 8788069 8788069 G A rs746219029 PIK3R5 Synonymous SNV G334G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.92 68522 chr18 60645509 60645509 C T rs34061095 PHLPP1 Synonymous SNV N1333N 0.072 0.078 0.065 15 85 30 0.038 19 3 3 1 0 11.28 68523 chr17 9538770 9538770 C T rs140517505 CFAP52 Synonymous SNV L389L 0.003 0.005 0.003 3 4 2 0.008 1 1 0 0 0 Benign 14.36 68524 chr7 31862756 31862756 T C rs61745829 PDE1C Nonsynonymous SNV S505G 0.012 0.01 0.007 4 14 4 0.01 2 0 0 0 0 10.37 68525 chr17 9604836 9604836 C T rs181640656 USP43 Synonymous SNV L610L 0.004 0.005 0.003 3 5 2 0.008 1 1 0 0 0 9.757 68526 chr7 4862171 4862171 G A rs79575100 RADIL Nonsynonymous SNV S490L 0 0 0.007 0 0 0 0 2 0 0 0 0 18.73 68527 chr7 31877490 31877490 G A rs770106484 PDE1C Nonsynonymous SNV P359L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 68528 chr19 16045066 16045066 A G CYP4F11 Synonymous SNV F51F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 68529 chr19 17534351 17534351 C G rs113697726 MVB12A Nonsynonymous SNV P153R 0.014 0.005 0.003 0 16 2 0 1 0 0 0 0 25.5 68530 chr18 658170 658170 G T rs28602966 TYMSOS Stop gain Y26X 0.015 0.013 0.01 6 18 5 0.015 3 1 1 0 0 29.8 68531 chr7 5427950 5427950 G A rs112785272 TNRC18 Nonsynonymous SNV P502L 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 19.2 68532 chr7 5467858 5467858 A G rs73333875 LOC100129484 Nonsynonymous SNV C8R 0 0 0.092 0 0 0 0 27 0 0 3 0 9.567 68533 chr7 39472681 39472681 C T rs2302124 POU6F2 Synonymous SNV I373I 0.022 0.008 0.014 2 26 3 0.005 4 0 0 0 0 16.15 68534 chr7 6193654 6193654 C T rs375308599 USP42 Synonymous SNV S823S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.234 68535 chr19 15636324 15636324 C T rs118091316 CYP4F22 Synonymous SNV F59F 0.005 0.003 0.007 6 6 1 0.015 2 0 0 0 0 Benign/Likely benign 15.5 68536 chr17 635989 635989 C T TLCD3A Synonymous SNV D34D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.291 68537 chr18 12429351 12429351 G A rs147870479 PRELID3A Synonymous SNV G135G 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 2.385 68538 chr17 74288502 74288502 T C rs143901735 QRICH2 Nonsynonymous SNV H603R 0.025 0.034 0.02 22 29 13 0.056 6 0 1 0 0 0.001 68539 chr7 43918564 43918564 G A rs200196077 URGCP Synonymous SNV A157A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.531 68540 chr18 72234625 72234625 C T rs140836083 CNDP1 Nonsynonymous SNV A238V 0.014 0.021 0.003 6 17 8 0.015 1 0 0 0 0 Benign 23.4 68541 chr18 18625360 18625360 A G rs202131565 ROCK1 Synonymous SNV L161L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.548 68542 chr18 2698017 2698017 T C rs200156169 SMCHD1 Synonymous SNV P440P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 4.522 68543 chr17 7752523 7752523 A C rs61764072 KDM6B Nonsynonymous SNV K973Q 0.031 0.029 0.037 12 36 11 0.031 11 0 1 0 0 24.7 68544 chr7 73657489 73657489 C T rs139127548 RFC2 Synonymous SNV S71S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.366 68545 chr17 7760574 7760574 C T rs144163075 NAA38 Stop gain W56X 0.029 0.029 0.041 12 34 11 0.031 12 0 1 0 0 Likely benign 37 68546 chr18 74639340 74639340 G A rs35357931 ZNF236 Synonymous SNV S1427S 0.014 0.021 0.017 2 17 8 0.005 5 0 0 0 0 9.997 68547 chr17 7806301 7806301 G T rs61753146 CHD3 Synonymous SNV G1198G 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 Likely benign 10.22 68548 chr19 18119820 18119820 C G ARRDC2 Nonsynonymous SNV R123G 0 0.003 0 0 0 1 0 0 0 0 0 0 31 68549 chr19 17337676 17337676 C T rs201391966 OCEL1 Nonsynonymous SNV P82S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.8 68550 chr18 8247858 8247858 C G rs148220369 PTPRM Nonsynonymous SNV S823W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 68551 chr19 1820276 1820276 T G REXO1 Nonsynonymous SNV E838A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 68552 chr19 19327778 19327778 G A rs762941863 NCAN Nonsynonymous SNV V6I 0.008 0.008 0 0 9 3 0 0 0 0 0 0 11.39 68553 chr19 1823637 1823637 C T rs989626029 REXO1 Nonsynonymous SNV V722I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 68554 chr18 29793346 29793346 C T rs141050716 MEP1B Nonsynonymous SNV A468V 0.02 0.026 0.014 17 23 10 0.044 4 0 0 0 1 0.04 68555 chr7 82764393 82764393 C T rs61730164 PCLO Nonsynonymous SNV A825T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 21.2 68556 chr17 78321157 78321157 T C rs61600413 RNF213 Nonsynonymous SNV C3008R 0.036 0.047 0.054 16 42 18 0.041 16 2 1 1 0 0.003 68557 chr19 19646441 19646441 C G rs146733860 YJEFN3 Nonsynonymous SNV T166R 0.009 0.008 0.007 0 11 3 0 2 0 0 0 0 25.9 68558 chr19 18286185 18286185 A G rs147477761 IFI30 Nonsynonymous SNV N127S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.4 68559 chr17 76523070 76523070 C T rs1002910925 DNAH17 Synonymous SNV P1172P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 68560 chr18 30791889 30791889 C G rs117587736 CCDC178 Nonsynonymous SNV V699L 0.014 0.021 0.01 11 16 8 0.028 3 0 0 0 0 7.976 68561 chr18 9254626 9254626 T C rs150317182 ANKRD12 Nonsynonymous SNV M431T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.001 68562 chr19 17426771 17426771 C T rs143056663 DDA1 Synonymous SNV L55L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.28 68563 chr7 51096843 51096844 TT - COBL K650Sfs*6 0.003 0 0 0 3 0 0 0 0 0 0 0 68564 chr17 76888131 76888131 G A rs925503035 CEP295NL Nonsynonymous SNV S152L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 68565 chr18 32833509 32833509 T G rs754710568 ZSCAN30 Nonsynonymous SNV T277P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.2 68566 chr19 1003332 1003332 G C rs374548254 GRIN3B Synonymous SNV T210T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.753 68567 chr7 891100 891100 G T rs142011077 SUN1 Nonsynonymous SNV W57C 0.02 0.005 0.017 7 24 2 0.018 5 0 0 0 0 Benign 25.7 68568 chr18 33554872 33554872 T C C18orf21 Synonymous SNV T38T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.038 68569 chr7 90528647 90528647 G T rs55664580 CDK14 Synonymous SNV G98G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.032 68570 chr7 909048 909048 G A rs61744747 SUN1 Synonymous SNV R578R 0.022 0.008 0.017 7 26 3 0.018 5 0 0 0 0 Benign 8.767 68571 chr7 56183831 56183831 G A rs114506539 NUPR2 Synonymous SNV R59R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 4.502 68572 chr7 95614189 95614189 A G DYNC1I1 Nonsynonymous SNV I195V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 68573 chr7 95657552 95657552 G A rs370643324 DYNC1I1 Synonymous SNV S325S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 68574 chr17 7990706 7990706 G A rs757119807 ALOX12B Nonsynonymous SNV R19W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.148 68575 chr19 1795984 1795984 G A rs187576612 ATP8B3 Stop gain R602X 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 35 68576 chr19 19681089 19681089 G A rs113788698 PBX4 Nonsynonymous SNV T154M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.32 68577 chr7 97863184 97863184 G A rs189236109 TECPR1 Synonymous SNV G407G 0.003 0 0.01 0 4 0 0 3 0 0 0 0 9.479 68578 chr19 18112361 18112361 C T rs113540008 ARRDC2 Nonsynonymous SNV R80C 0.036 0.026 0.041 12 42 10 0.031 12 1 1 1 0 23.6 68579 chr17 78178911 78178911 C T rs139467141 CARD14 Nonsynonymous SNV R826W 0.004 0.013 0 4 5 5 0.01 0 0 0 0 0 Likely benign 15.25 68580 chr19 2253780 2253780 A G rs10426549 JSRP1 Nonsynonymous SNV V92A 0.037 0.042 0.044 20 43 16 0.051 13 1 1 1 0 0.015 68581 chr19 2255311 2255311 C G rs7250822 JSRP1 Star tloss M1? 0.021 0.018 0.024 14 25 7 0.036 7 0 0 0 0 0.003 68582 chr18 43248375 43248375 G A rs765228298 SLC14A2 Nonsynonymous SNV V657M 0.003 0 0 0 4 0 0 0 0 0 0 0 33 68583 chr18 43417804 43417804 G T rs755968829 SIGLEC15 Nonsynonymous SNV A147S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.42 68584 chr19 2098063 2098063 A T rs45506200 IZUMO4 Nonsynonymous SNV Y137F 0.023 0.01 0.024 11 27 4 0.028 7 0 0 0 0 25.6 68585 chr7 72883898 72883898 G A rs145043036 BAZ1B Nonsynonymous SNV H939Y 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Benign 10.42 68586 chr7 73010191 73010191 C T rs149244334 MLXIPL Nonsynonymous SNV E723K 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Likely benign 24.1 68587 chr18 44089760 44089760 G A LOXHD1 Synonymous SNV N45N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.77 68588 chr17 7842880 7842880 G A rs148206376 CNTROB Nonsynonymous SNV R326Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14.8 68589 chr17 72842227 72842227 C T rs80107421 GRIN2C Synonymous SNV A776A 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 14.04 68590 chr19 2877426 2877426 C T rs34849844 ZNF556 Nonsynonymous SNV T156I 0.006 0.013 0.014 6 7 5 0.015 4 0 0 0 0 3.16 68591 chr7 73279376 73279376 C G rs201872219 TMEM270 Synonymous SNV L42L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.62 68592 chr19 21719213 21719213 G A rs62108336 ZNF429 Nonsynonymous SNV V56I 0.011 0.008 0.007 7 13 3 0.018 2 0 0 0 0 5.49 68593 chr19 18497077 18497077 - G GDF15 Frameshift insertion A29Rfs*270 0.002 0.003 0 0 2 1 0 0 0 0 0 0 68594 chr19 2235831 2235831 G T rs758101555 MIR6789 0 0.003 0 0 0 1 0 0 0 0 0 0 0.934 68595 chr19 18542183 18542183 G A rs183851202 SSBP4 Synonymous SNV P130P 0.011 0.013 0.007 11 13 5 0.028 2 0 0 0 0 2.578 68596 chr19 31039490 31039490 G A rs142744560 ZNF536 Synonymous SNV P988P 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 Benign 1.678 68597 chr17 8093324 8093324 C G rs150061068 BORCS6 Nonsynonymous SNV E45D 0.008 0.01 0.003 7 9 4 0.018 1 0 0 0 0 15 68598 chr7 75687396 75687396 G A rs11538801 MDH2 Synonymous SNV P36P 0.022 0.008 0.02 10 26 3 0.026 6 0 0 0 0 14.49 68599 chr7 75693758 75693758 T C MDH2 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 68600 chr18 51025739 51025739 G A rs377756608 DCC Nonsynonymous SNV E1324K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 68601 chr19 23542478 23542478 G A rs143698062 ZNF91 Synonymous SNV T1069T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.104 68602 chr8 10467754 10467754 G A rs201382029 RP1L1 Nonsynonymous SNV A1285V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.868 68603 chr18 52608228 52608228 C T rs755202062 CCDC68 Synonymous SNV K68K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.76 68604 chr18 5406920 5406920 A G rs771280917 EPB41L3 Synonymous SNV I554I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.716 68605 chr19 19758522 19758522 T C rs142259293 ATP13A1 Synonymous SNV R893R 0.003 0.013 0.003 3 4 5 0.008 1 0 0 0 0 4.795 68606 chr19 20044570 20044570 C T rs77645720 ZNF93 Nonsynonymous SNV S269F 0.016 0.016 0.003 6 19 6 0.015 1 0 0 0 0 4.873 68607 chr17 73498037 73498037 C T rs752685803 CASKIN2 Nonsynonymous SNV E958K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.14 68608 chr19 20044932 20044932 G A rs62135329 ZNF93 Nonsynonymous SNV V390I 0.03 0.036 0.031 13 35 14 0.033 9 0 0 0 0 0.004 68609 chr19 24290025 24290025 T A rs188355350 ZNF254 Nonsynonymous SNV D87E 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 0.768 68610 chr19 2121197 2121197 G A rs774561938 AP3D1 Synonymous SNV S405S 0 0.005 0 0 0 2 0 0 0 0 0 0 11.11 68611 chr19 11230842 11230842 C T rs5926 LDLR Synonymous SNV N472N 0.008 0.016 0.017 3 9 6 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 6.127 68612 chr8 110439334 110439334 C T rs561926298 PKHD1L1 Synonymous SNV Y983Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.731 68613 chr19 2808283 2808283 C T rs376013691 THOP1 Synonymous SNV P432P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 13.77 68614 chr17 80046994 80046994 C T rs12946178 FASN Nonsynonymous SNV E719K 0.012 0.005 0.007 7 14 2 0.018 2 0 0 0 0 Benign/Likely benign 23.1 68615 chr17 8661641 8661641 C T rs72848106 SPDYE4 Synonymous SNV T20T 0.037 0.021 0.034 8 43 8 0.021 10 0 0 0 0 8.277 68616 chr8 11295597 11295597 C T rs111707729 FAM167A-AS1 0 0 0.051 0 0 0 0 15 0 0 0 0 17.26 68617 chr19 11356356 11356356 C G rs79202547 DOCK6 Synonymous SNV S302S 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.88 68618 chr19 11537377 11537377 G A rs11879596 CCDC151 Synonymous SNV N183N 0.029 0.029 0.031 11 34 11 0.028 9 0 0 0 1 Benign 3.051 68619 chr17 73826491 73826491 G A rs35037984 UNC13D Nonsynonymous SNV R928C 0.032 0.026 0.017 9 37 10 0.023 5 0 0 0 0 Benign/Likely benign 15.21 68620 chr8 11619397 11619397 G A rs36018280 C8orf49 Nonsynonymous SNV V159I 0 0 0.204 0 0 0 0 60 0 0 6 0 0.011 68621 chr8 11629070 11629070 G A rs35833462 NEIL2 Synonymous SNV Q38Q 0.011 0.005 0.014 1 13 2 0.003 4 0 0 0 0 Benign 1.234 68622 chr19 3452637 3452637 C T rs1060363 NFIC Synonymous SNV C414C 0.008 0.003 0.01 4 9 1 0.01 3 0 0 0 0 16.39 68623 chr17 73870672 73870672 C A rs145314141 TRIM47 Synonymous SNV G603G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 10.14 68624 chr17 9596450 9596450 G A rs201227639 USP43 Nonsynonymous SNV G454R 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 13.82 68625 chr19 30936321 30936321 T G rs769207359 ZNF536 Nonsynonymous SNV Y618D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.63 68626 chr19 2254458 2254458 C T rs35121757 JSRP1 Nonsynonymous SNV G45S 0.02 0.023 0.037 8 23 9 0.021 11 0 1 0 0 10.64 68627 chr19 12126028 12126028 G A ZNF433 Nonsynonymous SNV H552Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.7 68628 chr18 10696534 10696534 C T rs117799245 PIEZO2 Synonymous SNV T2164T 0.044 0.047 0.031 11 52 18 0.028 9 0 1 0 0 12.5 68629 chr18 56247404 56247404 C T rs115979836 ALPK2 Nonsynonymous SNV A202T 0.01 0.003 0.01 1 12 1 0.003 3 0 0 0 0 15.59 68630 chr18 10759574 10759574 C T rs369007724 PIEZO2 Synonymous SNV P1196P 0.007 0.008 0.003 8 8 3 0.021 1 0 0 0 0 17.68 68631 chr19 23545307 23545307 T C rs200345962 ZNF91 Synonymous SNV K126K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 68632 chr19 33638586 33638586 C G rs74994260 WDR88 Nonsynonymous SNV A171G 0.066 0.065 0.058 29 77 25 0.074 17 5 0 0 1 23.6 68633 chr17 74394934 74394934 G A rs3744043 UBE2O Synonymous SNV F589F 0.026 0.031 0.02 12 30 12 0.031 6 1 0 0 0 15.48 68634 chr17 74472998 74472998 G A rs61742551 RHBDF2 Synonymous SNV G343G 0.026 0.026 0.017 13 30 10 0.033 5 3 0 0 0 Benign 16.35 68635 chr18 12955467 12955467 T C rs757548850 SEH1L Synonymous SNV H56H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.351 68636 chr17 74564815 74564815 G A rs200922773 ST6GALNAC2 Synonymous SNV F279F 0 0 0 2 0 0 0.005 0 0 0 0 0 13.03 68637 chr18 59972719 59972719 G T RELCH Nonsynonymous SNV L1201F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 68638 chr19 35251286 35251286 G T ZNF599 Nonsynonymous SNV N140K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.133 68639 chr7 92148336 92148336 G C rs71560821 PEX1 Synonymous SNV P110P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.39 68640 chr19 13318673 13318690 CTGCTGCTGCTGCTGCTG - rs765169827 CACNA1A Q2320_Q2325del 0.025 0.031 0.014 13 29 12 0.033 4 6 1 1 2 68641 chr19 35842992 35842992 G A rs146654047 FFAR1 Nonsynonymous SNV G180S 0.009 0.01 0 3 11 4 0.008 0 0 0 0 0 17.84 68642 chr19 2939268 2939289 ACCACCCTTACCCAAGGAGGCA - rs879577127 ZNF77 A41Lfs*6 0.058 0.055 0.048 23 68 21 0.059 14 0 0 0 0 68643 chr7 94540527 94540527 G A rs61737465 PPP1R9A Nonsynonymous SNV D368N 0.027 0.021 0.014 5 32 8 0.013 4 0 0 0 0 10.9 68644 chr19 30021083 30021083 G A rs143008092 VSTM2B Nonsynonymous SNV A219T 0.017 0.023 0.014 4 20 9 0.01 4 0 0 0 0 23.5 68645 chr18 61569091 61569091 G C rs143202684 SERPINB2 Nonsynonymous SNV G218A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 14.92 68646 chr8 128099532 128099532 G T rs7837848 PRNCR1 0 0 0.143 0 0 0 0 42 0 0 7 0 12.66 68647 chr18 21394384 21394384 G A rs34713637 LAMA3 Synonymous SNV K602K 0.011 0.016 0.014 3 13 6 0.008 4 0 0 0 0 10.54 68648 chr18 21417026 21417026 C G rs35756007 LAMA3 Synonymous SNV L1022L 0.014 0.018 0.014 4 16 7 0.01 4 0 0 0 0 1.967 68649 chr19 3186109 3186109 C G rs534318570 NCLN Synonymous SNV P27P 0 0.005 0 0 0 2 0 0 0 0 0 0 15.56 68650 chr18 21740003 21740003 A G rs149439567 CABYR Nonsynonymous SNV H272R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 5.957 68651 chr17 76421601 76421601 C T rs148940479 DNAH17 Nonsynonymous SNV A4323T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 68652 chr19 14029592 14029592 C T rs200121704 CC2D1A Nonsynonymous SNV S327L 0.018 0.016 0.017 6 21 6 0.015 5 0 0 0 0 Benign/Likely benign 11.14 68653 chr7 99725210 99725210 G T rs142426754 MBLAC1 Synonymous SNV G64G 0.026 0.034 0.02 12 31 13 0.031 6 0 1 0 0 0.102 68654 chr19 14288438 14288438 G A rs148289324 ADGRL1 Synonymous SNV Y63Y 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 10.34 68655 chr19 36051333 36051333 G T rs139075511 ATP4A Nonsynonymous SNV P240H 0.009 0.016 0.024 2 11 6 0.005 7 0 0 0 0 Benign 24.3 68656 chr19 14829541 14829541 C G rs757096009 ZNF333 Nonsynonymous SNV H237D 0.012 0.013 0 6 14 5 0.015 0 0 0 0 0 25.4 68657 chr17 76503585 76503585 G C rs12943086 DNAH17 Synonymous SNV L1513L 0.009 0 0.007 5 10 0 0.013 2 0 0 0 0 3.701 68658 chr18 6950925 6950925 C T rs139713073 LAMA1 Synonymous SNV L2751L 0.015 0.018 0 11 18 7 0.028 0 0 0 0 0 Benign 8.64 68659 chr18 7038860 7038860 G A rs777588510 LAMA1 Synonymous SNV F504F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.34 68660 chr17 76798453 76798453 C T rs73394926 USP36 Nonsynonymous SNV S992N 0.007 0 0 2 8 0 0.005 0 0 0 0 0 7.154 68661 chr8 134225223 134225223 C T rs61526601 CCN4 Synonymous SNV C62C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 68662 chr18 7023207 7023207 G A rs144738522 LAMA1 Nonsynonymous SNV A886V 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 68663 chr19 36431118 36431118 C T rs150434674 LRFN3 Nonsynonymous SNV A264V 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 20.8 68664 chr18 28576970 28576970 G A DSC3 Synonymous SNV S760S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.375 68665 chr8 136303595 136303595 G A rs75023938 LINC01591 0 0 0.075 0 0 0 0 22 0 0 0 0 0.041 68666 chr18 2892096 2892096 G A rs61740991 EMILIN2 Synonymous SNV P657P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 5.076 68667 chr19 36632077 36632077 G A rs377720678 CAPNS1 Nonsynonymous SNV G55D 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 13.63 68668 chr18 74962878 74962878 C T rs778211157 GALR1 Nonsynonymous SNV T125I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 68669 chr19 367089 367089 G A rs10422863 THEG Nonsynonymous SNV H273Y 0.042 0.055 0.044 12 49 21 0.031 13 1 1 0 0 0.013 68670 chr19 15292599 15292599 G A rs201436750 NOTCH3 Synonymous SNV N860N 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign/Likely benign 7.467 68671 chr18 7231534 7231534 C G rs202108131 LRRC30 Nonsynonymous SNV P133R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 68672 chr17 77808241 77808246 GTGGTG - rs779242736 CBX4 H399_H400del 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 68673 chr18 29598850 29598850 C G rs759640087 RNF125 Nonsynonymous SNV D8E 0.002 0 0 4 2 0 0.01 0 0 0 0 0 15.02 68674 chr18 76829458 76829458 C T rs141384028 ATP9B Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 68675 chr17 78055455 78055455 C G rs191736683 CCDC40 Nonsynonymous SNV T558R 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.217 68676 chr17 78063955 78063955 A C CCDC40 Synonymous SNV T950T 0 0 0.003 2 0 0 0.005 1 0 0 0 1 0.736 68677 chr19 37482671 37482671 C T rs755818935 ZNF568 Nonsynonymous SNV P119L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 68678 chr18 29054294 29054294 C T rs111986709 DSG3 Nonsynonymous SNV S771F 0.025 0.018 0.024 7 29 7 0.018 7 0 0 0 0 27.6 68679 chr8 143605650 143605650 C T rs112471383 ADGRB1 Synonymous SNV A1099A 0.016 0.01 0.024 3 19 4 0.008 7 1 0 0 0 9.798 68680 chr17 78188100 78188100 G A rs139484283 SGSH Synonymous SNV H178H 0.004 0 0 2 5 0 0.005 0 1 0 0 0 Conflicting interpretations of pathogenicity 4.385 68681 chr8 143746202 143746202 A G JRK Nonsynonymous SNV S426P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.465 68682 chr17 78272230 78272230 C G rs72849837 RNF213 Nonsynonymous SNV H708D 0.011 0.01 0.02 6 13 4 0.015 6 0 0 0 0 0.543 68683 chr19 38160565 38160565 C T rs113316386 ZNF781 Nonsynonymous SNV S162N 0.009 0.01 0.017 5 11 4 0.013 5 0 0 0 0 0.002 68684 chr19 38160916 38160916 C T rs772286028 ZNF781 Nonsynonymous SNV R45H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 68685 chr19 36317439 36317439 C T rs770046720 NPHS1 Nonsynonymous SNV E1235K 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 23.8 68686 chr18 39638010 39638010 G A rs117351748 PIK3C3 Synonymous SNV L746L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.356 68687 chr18 9204535 9204535 A G rs112568144 ANKRD12 Synonymous SNV T99T 0.01 0.018 0.007 8 12 7 0.021 2 0 0 0 0 4.316 68688 chr19 38655412 38655412 C T rs202162795 SIPA1L3 Synonymous SNV D1358D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 68689 chr18 32834232 32834232 G A rs72959629 ZNF397, ZSCAN30 Nonsynonymous SNV R36W 0.02 0.018 0.007 6 24 7 0.015 2 0 0 0 1 23.3 68690 chr19 3885809 3885809 T A ATCAY Nonsynonymous SNV V15E 0 0.003 0 0 0 1 0 0 0 0 0 0 29 68691 chr19 38966066 38966066 C T rs2229141 RYR1 Synonymous SNV P1423P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.02 68692 chr19 38996562 38996562 G A rs182019390 RYR1 Synonymous SNV T2839T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.124 68693 chr18 44085877 44085877 G T rs61733519 LOXHD1 Nonsynonymous SNV N173K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 68694 chr19 37368535 37368535 G C rs112729744 ZNF345 Nonsynonymous SNV S268T 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 Benign 5.686 68695 chr19 39421274 39421274 T C rs34264048 SARS2 Nonsynonymous SNV T35A 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 Benign 1.033 68696 chr19 39421957 39421957 A G rs33988199 MRPS12 Nonsynonymous SNV H8R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 4.655 68697 chr19 39423001 39423001 T C rs2070251 MRPS12 Synonymous SNV A26A 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 3.904 68698 chr18 43437958 43437958 C T rs140297677 EPG5 Synonymous SNV Q2434Q 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Likely benign 14.27 68699 chr19 10260244 10260244 G A rs140993011 DNMT1 Nonsynonymous SNV T808M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 68700 chr19 39660277 39660277 C T rs75096376 PAK4 Synonymous SNV H28H 0.032 0.039 0.02 12 38 15 0.031 6 1 0 0 0 13.77 68701 chr19 3754233 3754233 G A rs774374922 APBA3 Nonsynonymous SNV T241M 0 0.005 0 0 0 2 0 0 0 0 0 0 15.07 68702 chr17 79982934 79982934 G A rs780306000 LRRC45 Nonsynonymous SNV G138R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.716 68703 chr19 39379770 39379770 C T rs144373891 SIRT2 Nonsynonymous SNV R116H 0.008 0.021 0.003 7 9 8 0.018 1 0 0 0 0 Benign 34 68704 chr19 10407167 10407167 C T rs752386181 ICAM5 Synonymous SNV L884L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.73 68705 chr19 18245761 18245761 C G rs199683174 MAST3 Synonymous SNV T584T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 68706 chr19 3941163 3941163 G A rs150918954 NMRK2 Nonsynonymous SNV G169S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.749 68707 chr19 18255913 18255913 C T rs201550805 MAST3 Synonymous SNV P942P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 68708 chr18 5478295 5478295 C A rs117900256 EPB41L3 Nonsynonymous SNV S109I 0.016 0.018 0.01 5 19 7 0.013 3 1 0 0 0 22.9 68709 chr19 39663757 39663757 G A rs56099436 PAK4 Nonsynonymous SNV R135Q 0.014 0.018 0.02 26 17 7 0.067 6 0 1 0 1 0.037 68710 chr17 80151895 80151895 C T rs376571892 CCDC57 Nonsynonymous SNV G247R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.139 68711 chr19 40978644 40978644 C T rs150447798 SPTBN4 Nonsynonymous SNV A39V 0.003 0.01 0.017 0 3 4 0 5 0 0 0 0 Likely benign 17.61 68712 chr19 1049305 1049305 C A rs4147915 ABCA7 Synonymous SNV V807V 0.118 0.102 0.133 49 138 39 0.126 39 10 5 2 3 11.22 68713 chr19 1044619 1044619 C G rs146982710 ABCA7 Nonsynonymous SNV P364R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 12.88 68714 chr19 39911448 39911448 G A rs150254568 PLEKHG2 Nonsynonymous SNV R393Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 68715 chr19 18375531 18375531 G A rs113185969 IQCN Nonsynonymous SNV A940V 0.017 0.031 0.014 6 20 12 0.015 4 0 1 0 0 9.111 68716 chr8 145169485 145169485 T C rs144716343 WDR97 Nonsynonymous SNV L1274P 0.035 0.016 0.027 17 41 6 0.044 8 0 0 1 0 24.3 68717 chr8 145169489 145169489 G C rs148527973 WDR97 Synonymous SNV A1275A 0.035 0.016 0.027 17 41 6 0.044 8 0 0 1 0 11.67 68718 chr19 18376509 18376509 G A rs16982285 IQCN Nonsynonymous SNV A614V 0.032 0.021 0.068 13 37 8 0.033 20 2 0 2 0 0.01 68719 chr19 40146613 40146613 A C rs759295718 LGALS16 Synonymous SNV L4L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.018 68720 chr19 18376780 18376780 T C rs12462974 IQCN Nonsynonymous SNV T524A 0.032 0.021 0.068 13 38 8 0.033 20 2 0 2 0 0.001 68721 chr17 80828248 80828248 A G rs139629551 TBCD Synonymous SNV A489A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 0.384 68722 chr19 41920030 41920030 C T rs34442879 BCKDHA Nonsynonymous SNV T151M 0.005 0.021 0.017 3 6 8 0.008 5 0 0 0 0 Benign/Likely benign 30 68723 chr19 40719497 40719497 A G rs34886198 MAP3K10 Synonymous SNV S637S 0.011 0.013 0.014 5 13 5 0.013 4 0 0 0 0 0.049 68724 chr19 18378236 18378236 G A rs116770984 IQCN Synonymous SNV P38P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.94 68725 chr19 40748534 40748534 G A AKT2 Synonymous SNV G54G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.99 68726 chr19 1077936 1077936 C T rs35964792 ARHGAP45 Synonymous SNV L57L 0.032 0.021 0.017 14 37 8 0.036 5 0 0 0 0 16.65 68727 chr19 19016701 19016701 T C rs73923181 COPE Nonsynonymous SNV M163V 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 0.401 68728 chr19 39215193 39215193 G A rs145474119 ACTN4 Synonymous SNV Q666Q 0.014 0.026 0.003 7 16 10 0.018 1 0 0 0 0 Benign 11.98 68729 chr19 19021842 19021842 G A rs11537890 COPE Synonymous SNV S76S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 12.8 68730 chr8 145692998 145692998 G T rs144598500 KIFC2 Nonsynonymous SNV Q200H 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 27.7 68731 chr19 19030120 19030120 G C rs2231987 COPE Nonsynonymous SNV S13C 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 23.8 68732 chr8 145693002 145693002 A T rs146924845 KIFC2 Nonsynonymous SNV I202F 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 26.4 68733 chr19 1085993 1085993 G A rs34721728 ARHGAP45 Synonymous SNV P768P 0.035 0.021 0.02 16 41 8 0.041 6 0 0 0 0 4.813 68734 chr19 19032680 19032680 T C rs2231998 DDX49 Synonymous SNV S118S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 2.092 68735 chr19 10909210 10909210 A G rs201575500 DNM2 Nonsynonymous SNV T462A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.89 68736 chr7 100731748 100731748 T G rs61730718 TRIM56 Synonymous SNV G385G 0.05 0.07 0.092 30 59 27 0.077 27 4 1 1 3 0.009 68737 chr8 145736056 145736056 C T rs148527481 MFSD3 Synonymous SNV F302F 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 14.57 68738 chr7 100731896 100731896 T C rs61730716 TRIM56 Synonymous SNV L435L 0.055 0.083 0.092 34 65 32 0.087 27 4 1 1 2 0.001 68739 chr7 101713691 101713691 G A rs148322402 CUX1 Nonsynonymous SNV V83I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 23.9 68740 chr19 39788648 39788648 G A rs150964916 IFNL1 Synonymous SNV T98T 0.011 0.023 0.017 4 13 9 0.01 5 0 0 0 0 Benign 6.717 68741 chr19 11283681 11283681 G A rs775823105 KANK2 Synonymous SNV G737G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.813 68742 chr19 39904741 39904741 C T rs943101378 PLEKHG2 Synonymous SNV A5A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.87 68743 chr19 39904743 39904743 A T rs1039146270 PLEKHG2 Nonsynonymous SNV Q6L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 12.3 68744 chr8 146036012 146036012 C T rs2953882 LOC100130027 0 0 0.031 0 0 0 0 9 0 0 1 0 3.224 68745 chr19 42572987 42572987 C T rs61750871 ZNF574 Nonsynonymous SNV R42W 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 8.839 68746 chr7 102952123 102952123 G T rs3087615 PMPCB Nonsynonymous SNV E396D 0.072 0.091 0.041 35 85 35 0.09 12 5 1 0 1 10.96 68747 chr19 42861567 42861567 C T rs35468447 MEGF8 Synonymous SNV T1547T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 12.72 68748 chr7 105132055 105132055 T C rs201790849 PUS7 Synonymous SNV P290P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.708 68749 chr19 42874901 42874901 G A rs112167630 MEGF8 Nonsynonymous SNV V2285M 0.004 0.01 0.017 5 5 4 0.013 5 0 0 0 0 Benign 32 68750 chr19 43093033 43093033 G A rs35599593 CEACAM8 Synonymous SNV P287P 0.036 0.021 0.037 15 42 8 0.038 11 2 0 0 0 4.033 68751 chr8 17218629 17218629 G A rs1024355 MTMR7 Synonymous SNV Y155Y 0.072 0.055 0.082 22 84 21 0.056 24 7 2 1 0 5.574 68752 chr18 61060722 61060722 A G rs140107443 VPS4B Nonsynonymous SNV S385P 0.003 0.008 0.01 1 4 3 0.003 3 1 0 0 0 24.5 68753 chr18 60036150 60036150 G A TNFRSF11A Nonsynonymous SNV E320K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 21 68754 chr19 11569397 11569397 G A rs61744781 ELAVL3 Synonymous SNV S121S 0.067 0.057 0.085 38 79 22 0.097 25 7 0 1 0 11.78 68755 chr19 11598600 11598600 C T rs184960221 ZNF653 Synonymous SNV T226T 0.03 0.023 0.048 15 35 9 0.038 14 1 0 0 0 14.97 68756 chr19 11833891 11833891 G C rs117644723 ZNF823 Nonsynonymous SNV T109R 0.008 0.01 0.027 2 9 4 0.005 8 0 0 1 0 8.568 68757 chr7 107717395 107717395 C T rs74790077 LAMB4 Synonymous SNV V706V 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign 7.788 68758 chr19 12769283 12769283 G C rs117880912 MAN2B1 Synonymous SNV P356P 0.009 0.003 0.024 2 11 1 0.005 7 0 0 0 0 Benign/Likely benign 12.15 68759 chr18 12274103 12274103 C T rs115378276 CIDEA Synonymous SNV H114H 0.005 0.008 0.003 5 6 3 0.013 1 0 0 0 0 9.966 68760 chr19 13041143 13041143 C T FARSA Nonsynonymous SNV E133K 0.009 0.005 0 8 10 2 0.021 0 0 0 0 0 22.3 68761 chr19 12799002 12799002 T A rs77099081 GNG14 Nonsynonymous SNV M47K 0.01 0.003 0.02 2 12 1 0.005 6 0 0 0 0 6.923 68762 chr19 13010325 13010325 G A rs141819282 GCDH Synonymous SNV T429T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.12 68763 chr19 13035006 13035006 G A rs1045913 FARSA Synonymous SNV P449P 0.08 0.07 0.105 34 94 27 0.087 31 1 1 2 2 14.1 68764 chr19 13041131 13041131 G T rs61737507 FARSA Nonsynonymous SNV Q137K 0.009 0 0.017 1 10 0 0.003 5 0 0 0 0 12.34 68765 chr19 13319590 13319590 C G rs779063280 CACNA1A Nonsynonymous SNV E2255Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.9 68766 chr18 66358511 66358511 A C TMX3 Nonsynonymous SNV S193A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.297 68767 chr18 67673697 67673697 C T rs34989098 RTTN Nonsynonymous SNV A1237T 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.35 68768 chr8 20111004 20111004 G A rs35103297 LZTS1 Synonymous SNV S146S 0.011 0.018 0.01 2 13 7 0.005 3 0 0 0 0 0.316 68769 chr19 14184611 14184611 C A rs142911990 MISP3 Nonsynonymous SNV R164S 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 34 68770 chr19 14752395 14752395 C T rs149010185 ADGRE3 Nonsynonymous SNV V236M 0.013 0.008 0 6 15 3 0.015 0 0 0 0 0 22.7 68771 chr19 42231159 42231159 G A rs9621 CEACAM5 Nonsynonymous SNV G678R 0.017 0.018 0.01 8 20 7 0.021 3 0 0 0 0 0.669 68772 chr8 22460101 22460101 C T rs117289616 C8orf58 Nonsynonymous SNV R311W 0.02 0.023 0.01 5 24 9 0.013 3 0 0 0 0 0.038 68773 chr18 71825499 71825499 G A rs149155957 TIMM21 Synonymous SNV A210A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.455 68774 chr19 287703 287703 G A rs61745392 PLPP2 Nonsynonymous SNV R85C 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 29.6 68775 chr19 14938421 14938421 C G rs62122652 OR7A5 Synonymous SNV L211L 0.028 0.036 0.034 13 33 14 0.033 10 0 0 1 1 3.306 68776 chr18 72250883 72250883 G T rs111779843 CNDP1 Nonsynonymous SNV V466L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 0.048 68777 chr8 22974325 22974325 G A rs11780493 TNFRSF10C Synonymous SNV P187P 0.014 0.01 0.024 9 17 4 0.023 7 4 0 1 2 6.514 68778 chr18 743068 743068 T C rs201651859 YES1 Nonsynonymous SNV I304V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.605 68779 chr8 22974450 22974450 T C rs9644063 TNFRSF10C Nonsynonymous SNV I229T 0.01 0.013 0.017 8 12 5 0.021 5 2 0 1 2 0.01 68780 chr19 30312976 30312976 A T rs61750863 CCNE1 Nonsynonymous SNV N211I 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 25.2 68781 chr18 2724928 2724928 A G rs671942 SMCHD1 Nonsynonymous SNV K879E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.4 68782 chr19 4330035 4330035 G A rs754213637 STAP2 Synonymous SNV T126T 0 0.005 0 0 0 2 0 0 0 0 0 0 7.262 68783 chr18 756629 756629 C T rs201966473 YES1 Nonsynonymous SNV G67R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 68784 chr18 28983448 28983448 A G rs117510013 DSG4 Nonsynonymous SNV N496S 0.004 0.005 0.003 7 5 2 0.018 1 0 0 0 0 Likely benign 0.012 68785 chr7 128851980 128851980 G A rs77320475 SMO Synonymous SNV P684P 0.017 0.008 0.014 2 20 3 0.005 4 0 0 0 0 0.105 68786 chr19 15273335 15273335 C T rs115582213 NOTCH3 Nonsynonymous SNV V1952M 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 34 68787 chr19 4511376 4511377 CA - rs750600369 PLIN4 G866Qfs*29 0.037 0.036 0.017 17 44 14 0.044 5 0 0 0 0 68788 chr19 4511379 4511379 - AC rs777278419 PLIN4 Frameshift insertion L865Vfs*6 0.033 0.036 0.017 15 39 14 0.038 5 0 0 0 0 68789 chr8 26906434 26906438 TAAAG - rs150141473 MIR548H4 0 0 0.119 0 0 0 0 35 0 0 6 0 68790 chr18 77797398 77797398 T C rs150145069 RBFA Synonymous SNV H90H 0.003 0.01 0.003 4 3 4 0.01 1 0 0 0 0 0.012 68791 chr18 9557299 9557299 C G rs184708932 PPP4R1 Nonsynonymous SNV V704L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.1 68792 chr19 45315770 45315770 G A BCAM Nonsynonymous SNV G157R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.8 68793 chr8 27358495 27358495 C T rs139234214 EPHX2 Nonsynonymous SNV R52W 0.012 0.018 0.027 9 14 7 0.023 8 0 0 0 0 27.3 68794 chr19 45322092 45322092 C T rs763826249 BCAM Nonsynonymous SNV T430I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.67 68795 chr8 27559214 27559214 G A rs66683138 MIR3622A, MIR3622B 0 0 0.211 0 0 0 0 62 0 0 6 0 7.147 68796 chr19 33706774 33706774 G A rs751977636 SLC7A10 Nonsynonymous SNV T86M 0 0.005 0 0 0 2 0 0 0 0 0 0 29.3 68797 chr7 135123060 135123060 G C rs17480616 CNOT4 Nonsynonymous SNV A7G 0.009 0.008 0.017 7 11 3 0.018 5 0 0 0 0 12.67 68798 chr18 9886692 9886692 G A rs114777727 TXNDC2 Synonymous SNV T72T 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 8.74 68799 chr8 2820043 2820043 G T rs4876056 CSMD1 Synonymous SNV S3191S 0.026 0.023 0.041 9 31 9 0.023 12 0 1 0 0 1.955 68800 chr19 45645328 45645328 C T rs565386331 PPP1R37 Synonymous SNV L193L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.25 68801 chr19 16640544 16640544 C T rs58473148 CHERP Synonymous SNV E348E 0.025 0.023 0.031 8 29 9 0.021 9 0 1 0 0 6.988 68802 chr8 33371074 33371074 G C rs77431541 SNORD13 0 0 0.058 0 0 0 0 17 0 0 1 0 4.357 68803 chr8 33371095 33371095 C T rs34867067 SNORD13 0 0 0.058 0 0 0 0 17 0 0 1 0 9.631 68804 chr19 3599916 3599916 G A rs199952923 TBXA2R Synonymous SNV S239S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.156 68805 chr19 10444712 10444712 C A rs201301472 ICAM3 Nonsynonymous SNV V393F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 68806 chr19 46332369 46332369 C T rs141706016 SYMPK Nonsynonymous SNV R615H 0.018 0.029 0.024 6 21 11 0.015 7 0 0 0 0 28.8 68807 chr8 37792610 37792610 G A rs146808588 GOT1L1 Synonymous SNV H351H 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 9.718 68808 chr19 46733560 46733560 T G rs187146043 IGFL1 Nonsynonymous SNV C37G 0.008 0.018 0.007 2 9 7 0.005 2 0 0 0 0 14.05 68809 chr19 45575433 45575433 G A rs113643466 ZNF296 Nonsynonymous SNV P285L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.037 68810 chr19 17397486 17397501 TGTGTGTGTGTGTGTT - rs780452630 ANKLE1 L591Vfs*13 0.01 0.008 0.031 1 12 3 0.003 9 0 0 0 0 68811 chr19 45848966 45848966 G A KLC3 Nonsynonymous SNV G56D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 68812 chr19 4511674 4511674 C T rs775085816 PLIN4 Synonymous SNV V766V 0.051 0.057 0.003 8 60 22 0.021 1 0 0 0 0 8.16 68813 chr19 4511677 4511677 A G rs28546567 PLIN4 Synonymous SNV A765A 0.055 0.06 0 11 64 23 0.028 0 1 0 0 1 0.002 68814 chr19 36365736 36365736 G A rs35358477 APLP1 Nonsynonymous SNV V437M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.8 68815 chr19 4511679 4511679 C T rs200355083 PLIN4 Nonsynonymous SNV A765T 0.056 0.068 0 9 66 26 0.023 0 0 0 0 0 0.001 68816 chr19 4511680 4511680 A G rs759223445 PLIN4 Synonymous SNV D764D 0.053 0.063 0 9 62 24 0.023 0 0 0 0 0 0.018 68817 chr19 17643146 17643146 C T rs187591525 NIBAN3 Synonymous SNV I87I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.32 68818 chr19 10665770 10665770 G C rs200311568 KRI1 Nonsynonymous SNV R592G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.913 68819 chr8 442405 442405 C T rs201997368 TDRP Synonymous SNV A194A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 1.013 68820 chr19 4513044 4513064 CAGTCACCCCACTACAGACGG - rs748893507 PLIN4 T303_G310delinsS 0 0.005 0 0 0 2 0 0 0 1 0 0 68821 chr19 4513067 4513144 TCCTTGGTACCTGTTAGGACAGTCTTACTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCA - PLIN4 G277_D302del 0 0.005 0 0 0 2 0 0 0 1 0 0 68822 chr8 52336137 52336137 G A rs200870550 PXDNL Nonsynonymous SNV T598M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 68823 chr19 46376217 46376217 C A rs3810327 FOXA3 Synonymous SNV P318P 0.066 0.063 0.105 32 77 24 0.082 31 1 0 0 3 12.45 68824 chr19 46387734 46387734 C T rs202174256 IRF2BP1 Synonymous SNV L433L 0.006 0.008 0.003 0 7 3 0 1 1 0 0 0 7.782 68825 chr7 143140931 143140933 TCT - rs35195910 TAS2R60 F131del 0.073 0.057 0.065 25 86 22 0.064 19 5 1 0 1 68826 chr8 54142154 54142154 G A rs16918875 OPRK1 Synonymous SNV V282V 0.034 0.034 0.051 17 40 13 0.044 15 0 0 1 1 8.017 68827 chr19 17945471 17945471 G A rs35458530 JAK3 Synonymous SNV A753A 0.008 0 0.014 7 9 0 0.018 4 0 0 0 0 Benign 7.883 68828 chr19 45851990 45851990 C T rs760163785 KLC3 Nonsynonymous SNV A289V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 68829 chr19 37368133 37368133 C T rs149031424 ZNF345 Nonsynonymous SNV T134I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 8.675 68830 chr8 56364520 56364520 T C rs2929049 SBF1P1 0 0 0.31 0 0 0 0 91 0 0 23 0 1.57 68831 chr19 46119801 46119801 G T rs752102640 EML2 Nonsynonymous SNV A360D 0 0.003 0 0 0 1 0 0 0 0 0 0 32 68832 chr8 57294501 57294501 T C rs10216893 SDR16C6P 0 0 0.248 0 0 0 0 73 0 0 13 0 3.428 68833 chr8 57294571 57294571 C G rs10216409 SDR16C6P 0 0 0.252 0 0 0 0 74 0 0 13 0 7.112 68834 chr18 57134025 57134025 G A rs116675104 CCBE1 Nonsynonymous SNV R167W 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Benign 29.9 68835 chr7 148802540 148802540 G A rs770421949 ZNF425 Synonymous SNV A141A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.855 68836 chr8 623696 623696 G A rs61741834 ERICH1 Nonsynonymous SNV T219I 0.015 0.013 0.034 7 18 5 0.018 10 0 0 1 0 10.04 68837 chr18 59221550 59221550 G A rs34667496 CDH20 Synonymous SNV E676E 0.021 0.018 0.037 6 25 7 0.015 11 0 0 0 0 6.672 68838 chr19 47774865 47774865 A G CCDC9 Nonsynonymous SNV N509S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.09 68839 chr19 18234789 18234789 C T rs56022120 MAST3 Nonsynonymous SNV T196M 0.007 0.003 0.014 4 8 1 0.01 4 0 0 0 0 15.26 68840 chr19 18245764 18245764 C T rs55633228 MAST3 Synonymous SNV P585P 0.008 0.003 0.007 4 9 1 0.01 2 0 0 0 0 19.66 68841 chr19 47823149 47823149 C G rs142732453 C5AR1 Nonsynonymous SNV L39V 0.005 0.013 0 0 6 5 0 0 0 0 0 0 0.001 68842 chr19 18255940 18255940 C T rs145623321 MAST3 Synonymous SNV I951I 0.007 0.003 0.01 4 8 1 0.01 3 0 0 0 0 18.77 68843 chr18 59828448 59828448 C G rs375744259 PIGN Nonsynonymous SNV V47L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Uncertain significance 27.7 68844 chr19 48741731 48741731 G A rs138177358 CARD8 Nonsynonymous SNV R40W 0.004 0.018 0 6 5 7 0.015 0 0 0 0 0 13.17 68845 chr19 11558380 11558380 G A rs140014863 PRKCSH Nonsynonymous SNV A326T 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Likely benign 9.672 68846 chr8 6668746 6668746 C T rs117373164 XKR5 Nonsynonymous SNV M678I 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 6.894 68847 chr19 46417625 46417625 A G rs142962668 NANOS2 Synonymous SNV H109H 0 0.005 0.007 0 0 2 0 2 0 0 0 0 5.333 68848 chr19 12429782 12429782 G A rs112896133 ZNF563 Stop gain R353X 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 35 68849 chr19 49206621 49206621 A G rs1800026 FUT2 Synonymous SNV E136E 0.004 0.01 0 5 5 4 0.013 0 0 0 0 0 Benign 0.035 68850 chr19 49206657 49206657 C G rs747849767 FUT2 Synonymous SNV T148T 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 Likely benign 9.059 68851 chr19 46973300 46973300 G A rs143256431 PNMA8A Synonymous SNV G331G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 1.77 68852 chr19 11354031 11354031 C T rs143655255 DOCK6 Nonsynonymous SNV R430H 0.009 0.008 0.02 7 10 3 0.018 6 0 0 0 0 Likely benign 27.3 68853 chr19 11356377 11356377 G A rs146599144 DOCK6 Synonymous SNV N295N 0.009 0.008 0.024 7 10 3 0.018 7 0 0 0 0 Benign 9.295 68854 chr19 12996500 12996500 A G rs2072596 KLF1 Nonsynonymous SNV F182L 0.016 0.016 0.031 10 19 6 0.026 9 2 1 1 2 Benign 22.8 68855 chr19 47422630 47422630 A G rs549628211 ARHGAP35 Nonsynonymous SNV N233S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.3 68856 chr19 11598119 11598127 CGATGCCTG - rs200934959 ZNF653 A384_I386del 0.009 0.005 0 5 10 2 0.013 0 0 0 0 0 68857 chr19 11616560 11616560 - GCCTCC rs759303273 ZNF653 A16_G17insEA 0.011 0.01 0 0 13 4 0 0 0 0 0 0 68858 chr8 74234193 74234193 G A rs9298224 RDH10-AS1 0 0 0.139 0 0 0 0 41 0 0 4 0 6.69 68859 chr19 48981767 48981767 C T CYTH2 Stop gain R344X 0.003 0.005 0 0 4 2 0 0 0 0 0 0 42 68860 chr19 38782485 38782485 G C rs11548457 SPINT2 Nonsynonymous SNV V143L 0.02 0.042 0.02 10 23 16 0.026 6 1 0 0 0 14.54 68861 chr7 150878421 150878421 G C rs61735708 ASB10 Nonsynonymous SNV R237G 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 21.7 68862 chr8 75614617 75614617 A G rs2162147 MIR2052HG 0 0 0.337 0 0 0 0 99 0 0 19 0 1.173 68863 chr8 75664695 75664695 A - rs34841297 MIR2052HG 0 0 0.354 0 0 0 0 104 0 0 19 0 68864 chr18 61654329 61654329 C T rs3744958 SERPINB8 Synonymous SNV A134A 0.02 0.018 0.024 6 24 7 0.015 7 0 0 0 0 18.02 68865 chr19 14162424 14162424 A G IL27RA Nonsynonymous SNV T512A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 68866 chr19 47858424 47858424 G A rs2245046 DHX34 Synonymous SNV V278V 0.032 0.055 0.044 14 38 21 0.036 13 0 0 0 0 12.55 68867 chr8 80915322 80915322 G A rs16919579 MRPS28 Nonsynonymous SNV R103W 0 0 0.003 0 0 0 0 1 0 0 0 0 29 68868 chr7 151878575 151878575 T C rs941761151 KMT2C Nonsynonymous SNV R2124G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 68869 chr19 47865911 47865911 A G rs2547390 DHX34 Synonymous SNV P518P 0.032 0.055 0.041 14 38 21 0.036 12 0 0 0 0 0.138 68870 chr19 47879279 47879279 G A rs2694558 DHX34 Synonymous SNV L802L 0.032 0.055 0.044 14 38 21 0.036 13 0 0 0 0 10.1 68871 chr7 154379727 154379727 A G rs117574002 DPP6 Nonsynonymous SNV H332R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Uncertain significance 7.823 68872 chr19 19105294 19105294 C T rs200687276 SUGP2 Nonsynonymous SNV G1044R 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 31 68873 chr19 49409026 49409026 G A rs111959800 NUCB1 Nonsynonymous SNV R87Q 0.03 0.044 0.024 2 35 17 0.005 7 0 0 1 0 23.2 68874 chr19 1236046 1236051 AGTGGT - rs199935954 CBARP T17_T18del 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 68875 chr19 19240997 19240997 C T rs745542632 TMEM161A Nonsynonymous SNV R188Q 0.003 0 0 0 4 0 0 0 0 0 0 0 11.15 68876 chr19 20026203 20026203 C T rs139631470 ZNF93 Synonymous SNV L40L 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 11.65 68877 chr18 6999553 6999553 G A rs145068849 LAMA1 Synonymous SNV H1518H 0.006 0.008 0.007 6 7 3 0.015 2 0 0 0 0 Benign 3.414 68878 chr19 49657423 49657423 A G rs113958500 HRC Nonsynonymous SNV S358P 0.019 0.021 0.017 9 22 8 0.023 5 0 0 0 0 24.3 68879 chr19 49657531 49657531 - GTGCCTGTGGGCCTGGTGTCCATACTCAGTGGAGACATCATCATCATCATCATCATCTTCTTCTTCTTCTTTGTGGCCTCGGTGCCTGTGGCTGGGGCTGTGATGGTGGTGTTCATCGGAGACATCCTCATCCTCTTCCTTTCTGTGACCTCC rs79641743 HRC H321_Q322insGGHRKEEDEDVSDEHHHHSPSHRHRGHKEEEEDDDDDDDVSTEYGHQAHRH 0.018 0.021 0.003 6 21 8 0.015 1 0 0 0 0 68880 chr19 19609297 19609297 G T rs569334153 GATAD2A Nonsynonymous SNV A324S 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 9.676 68881 chr19 39207742 39207742 G A rs112545413 ACTN4 Nonsynonymous SNV R310Q 0.02 0.005 0.017 3 23 2 0.008 5 0 0 0 0 Benign 23.8 68882 chr19 49714497 49714497 C T rs150391806 TRPM4 Nonsynonymous SNV P850L 0.01 0.01 0.017 5 12 4 0.013 5 0 0 0 0 Benign/Likely benign 23.8 68883 chr19 2099012 2099012 A G rs201488524 IZUMO4 Nonsynonymous SNV R198G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 68884 chr7 156801700 156801700 G T rs78596384 MNX1 Nonsynonymous SNV A16D 0.021 0.016 0.024 2 25 6 0.005 7 0 0 0 0 4.442 68885 chr8 90926357 90926357 G A rs146570031 OSGIN2 Synonymous SNV P84P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 68886 chr19 13264549 13264549 C T rs77645585 IER2 Synonymous SNV S183S 0.022 0.023 0 9 26 9 0.023 0 0 0 0 0 19.75 68887 chr8 90993640 90993640 C T rs61753720 NBN Nonsynonymous SNV D95N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 68888 chr19 39340418 39340418 A G rs551420089 HNRNPL Synonymous SNV T63T 0.015 0.01 0.003 3 18 4 0.008 1 1 0 0 0 3.64 68889 chr7 157414064 157414064 - GCCAGTTTCCACCGCCCGTAACCCAGGCTTCCTGCCCCCGGGGCTGGTACGTACAGGTCAGCACA PTPRN2 Frameshift insertion Y744Cfs*21 0.02 0.013 0.007 11 23 5 0.028 2 0 1 0 1 68890 chr19 2037783 2037783 G A rs8106804 MKNK2 Synonymous SNV H400H 0.016 0.01 0.003 10 19 4 0.026 1 0 0 0 0 4.585 68891 chr8 94041998 94041998 G A rs404337 MIR8084 0 0 0.711 0 0 0 0 209 0 0 85 0 2.147 68892 chr19 39908214 39908214 C T rs73033371 PLEKHG2 Nonsynonymous SNV A196V 0.024 0.016 0.041 0 28 6 0 12 0 0 0 0 16.99 68893 chr19 48997103 48997103 C T LMTK3 Nonsynonymous SNV V1343M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.5 68894 chr8 95871815 95871815 A G rs138818665 INTS8 Synonymous SNV T677T 0 0 0.007 0 0 0 0 2 0 0 0 0 1.742 68895 chr19 23543810 23543810 G C rs763211216 ZNF91 Synonymous SNV P625P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 68896 chr19 49218150 49218150 G A rs368110114 MAMSTR Synonymous SNV P44P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.605 68897 chr19 23556631 23556631 G C rs377387685 ZNF91 Nonsynonymous SNV L56V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 68898 chr19 50155362 50155373 CCGCTCCCGCTC - rs565149093 SCAF1 R579_S582del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 68899 chr8 96812747 96812747 A G rs3107035 C8orf37-AS1 0 0 0.269 0 0 0 0 79 0 0 7 0 6.263 68900 chr19 49218643 49218643 G A rs763985499 MAMSTR Nonsynonymous SNV H101Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.14 68901 chr8 9759834 9759834 A G rs536829467 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 68902 chr19 1434842 1434842 C T rs61735591 DAZAP1 Synonymous SNV P212P 0.049 0.052 0.044 27 58 20 0.069 13 1 0 0 2 13.83 68903 chr19 50189881 50189881 G A rs955307162 PRMT1 Synonymous SNV T224T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.47 68904 chr19 50339026 50339034 GGGGCCTCT - rs764613506 MED25 S599_A601del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 68905 chr19 49564908 49564908 C T rs774223674 NTF4 Nonsynonymous SNV R116H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 68906 chr8 2824257 2824257 C T rs117633452 CSMD1 Nonsynonymous SNV G2979S 0.016 0.008 0.017 3 19 3 0.008 5 0 0 0 0 Likely benign 32 68907 chr19 1486873 1486873 G A rs78837090 PCSK4 Synonymous SNV G349G 0.017 0.01 0.003 7 20 4 0.018 1 0 0 0 0 14.42 68908 chr9 100895363 100895363 C T rs759952460 CORO2A Nonsynonymous SNV R202H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 68909 chr19 30303617 30303617 C T rs139551337 CCNE1 Synonymous SNV T15T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 8.216 68910 chr19 49912491 49912491 C T rs202225444 CCDC155 Nonsynonymous SNV T366I 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 14.78 68911 chr19 49930295 49930295 C G rs73053944 GFY Nonsynonymous SNV T203S 0.031 0.021 0.02 7 36 8 0.018 6 2 0 0 0 12.83 68912 chr19 30503316 30503316 C T rs754502991 URI1 Nonsynonymous SNV R417W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 68913 chr19 16899997 16899997 C T rs201105182 NWD1 Nonsynonymous SNV S773L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 68914 chr19 49932053 49932053 C T rs145602134 GFY Nonsynonymous SNV T512M 0.028 0.016 0.02 7 33 6 0.018 6 2 0 1 0 28 68915 chr19 16918662 16918662 G A rs3745321 NWD1 Synonymous SNV P1128P 0.01 0.01 0.014 3 12 4 0.008 4 0 0 0 0 3.058 68916 chr9 101980683 101980683 C T ALG2 Nonsynonymous SNV V262I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 68917 chr19 31768828 31768828 A G rs200334967 TSHZ3 Nonsynonymous SNV V624A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 68918 chr19 15220105 15220105 G C rs148884509 SYDE1 Nonsynonymous SNV E42D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.16 68919 chr19 33134229 33134229 C T rs144590411 ANKRD27 Synonymous SNV L223L 0.005 0 0 2 6 0 0.005 0 0 0 0 1 12.31 68920 chr19 17326236 17326236 C T rs756846424 USE1 Synonymous SNV L8L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.81 68921 chr19 33467575 33467575 C T rs148106526 FAAP24 Nonsynonymous SNV T117M 0.004 0 0 2 5 0 0.005 0 0 0 0 1 26.6 68922 chr19 51582808 51582808 G A rs112658494 KLK14 Nonsynonymous SNV R122W 0.004 0.005 0.017 3 5 2 0.008 5 0 0 0 0 23.4 68923 chr9 109691521 109691521 G A rs17785570 ZNF462 Synonymous SNV S1776S 0.02 0.026 0.014 8 24 10 0.021 4 1 0 0 0 Benign 8.668 68924 chr8 10467581 10467581 - TTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT rs763061986 RP1L1 K1342_E1343insTEEGLQEEGVQLEGTK 0.007 0.003 0.014 5 8 1 0.013 4 0 0 0 2 68925 chr9 111617746 111617746 G A rs115335677 ACTL7B Synonymous SNV S155S 0.022 0.013 0.024 5 26 5 0.013 7 0 0 0 0 7.068 68926 chr19 10259674 10259674 G C rs538290672 DNMT1 Nonsynonymous SNV S853C 0.003 0.008 0.003 8 3 3 0.021 1 0 0 0 1 19.51 68927 chr19 35504539 35504539 C T rs201394899 GRAMD1A Nonsynonymous SNV R265C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 68928 chr9 113194306 113194306 C T rs751706837 SVEP1 Nonsynonymous SNV E1748K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 68929 chr8 12598407 12598407 T A rs199520551 LONRF1 Synonymous SNV A313A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.94 68930 chr9 113238539 113238539 C T SVEP1 Synonymous SNV L848L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 68931 chr9 113449489 113449489 C T rs35142681 MUSK Nonsynonymous SNV T100M 0.024 0.031 0.024 5 28 12 0.013 7 0 0 0 0 Benign 12.07 68932 chr19 52249255 52249255 G A rs17849971 FPR1 Synonymous SNV T331T 0.015 0.016 0.031 9 18 6 0.023 9 0 0 0 0 Benign 2.441 68933 chr19 52249760 52249760 C T rs111768566 FPR1 Nonsynonymous SNV R163H 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign 23.6 68934 chr19 3539254 3539271 TACAGGTGAGCCCCTCCC - rs764889249 C19orf71 Y27Rfs*2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 68935 chr19 52250071 52250071 G A rs61736491 FPR1 Synonymous SNV V59V 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Benign 9.879 68936 chr19 16664679 16664679 G A rs117188970 SLC35E1 Synonymous SNV L348L 0.049 0.039 0.017 12 58 15 0.031 5 4 0 0 0 9.48 68937 chr19 52376876 52376876 G A rs17849895 ZNF577 Nonsynonymous SNV R123C 0.01 0.021 0.017 6 12 8 0.015 5 0 0 0 0 12.26 68938 chr8 13357340 13357340 G C rs3816748 DLC1 Nonsynonymous SNV L81V 0.009 0.021 0.003 4 10 8 0.01 1 0 0 0 0 0.001 68939 chr19 16860001 16860001 A T rs76739123 NWD1 Nonsynonymous SNV Q183L 0.009 0 0.003 2 11 0 0.005 1 0 0 0 0 Benign 0.001 68940 chr19 52380567 52380567 G A rs17856123 ZNF577 Nonsynonymous SNV A84V 0.006 0.003 0.017 1 7 1 0.003 5 0 0 1 0 3.659 68941 chr19 35435632 35435632 C T rs140215760 ZNF30 Nonsynonymous SNV R589W 0.009 0 0.007 4 11 0 0.01 2 0 0 0 0 25.8 68942 chr19 16860087 16860087 G A rs61750949 NWD1 Nonsynonymous SNV A6T 0.01 0 0.003 2 12 0 0.005 1 0 0 0 0 Benign 16.72 68943 chr19 10433360 10433360 C T rs117798643 RAVER1 Synonymous SNV T378T 0.03 0.018 0.014 14 35 7 0.036 4 1 0 0 1 16.47 68944 chr19 52222732 52222732 G A rs61736496 HAS1 Synonymous SNV Y142Y 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 8.371 68945 chr9 114804173 114804173 G A rs3849117 SUSD1 Synonymous SNV L739L 0.088 0.063 0.088 29 103 24 0.074 26 5 0 4 2 4.366 68946 chr19 16860685 16860685 C T rs61998161 NWD1 Nonsynonymous SNV T205I 0.009 0 0.003 2 11 0 0.005 1 0 0 0 0 Benign 0.112 68947 chr9 115806014 115806014 C T rs201541582 ZFP37 Nonsynonymous SNV C310Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 68948 chr19 44500677 44500677 A T rs62640893 ZNF155 Nonsynonymous SNV Q223L 0.009 0.01 0.003 3 10 4 0.008 1 0 0 0 0 23.4 68949 chr19 16908696 16908696 A C NWD1 Nonsynonymous SNV Q947P 0.007 0 0 2 8 0 0.005 0 0 0 0 0 23.9 68950 chr19 16918485 16918485 G A rs117690411 NWD1 Synonymous SNV V1069V 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 1.74 68951 chr19 3613226 3613226 - CCTCGC rs747207738 CACTIN E538_A539insGE 0.031 0.047 0.02 17 36 18 0.044 6 0 0 0 0 68952 chr19 10610620 10610620 C T rs80113737 KEAP1 Synonymous SNV A30A 0.012 0.013 0.007 11 14 5 0.028 2 0 0 0 1 Benign 13.2 68953 chr9 116136209 116136209 C G rs151332782 HDHD3 Nonsynonymous SNV E142D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 68954 chr19 52954646 52954646 G C rs11879334 ZNF534 Nonsynonymous SNV G117R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 68955 chr19 36018642 36018695 GCCTGCCCTGCAGCATGGTGGACTCCCTGGCCAAACCTCCCAGCCTCATTTCCA - SBSN V192_G209del 0.038 0.034 0.024 9 45 13 0.023 7 0 0 0 0 68956 chr9 117143588 117143588 C A rs78980088 AKNA Nonsynonymous SNV R9L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.519 68957 chr19 36362763 36362763 C T rs371660334 APLP1 Synonymous SNV D225D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.3 68958 chr19 18966824 18966824 C T rs150324027 UPF1 Synonymous SNV C556C 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 Benign 15.16 68959 chr19 11034207 11034207 G A rs141333361 YIPF2 Synonymous SNV V227V 0 0.008 0.003 7 0 3 0.018 1 0 0 0 1 6.669 68960 chr9 117791664 117791664 C T rs79563958 TNC Synonymous SNV G2048G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 17.51 68961 chr19 11034837 11034837 A G rs61747440 YIPF2 Synonymous SNV F133F 0 0.008 0.007 7 0 3 0.018 2 0 0 0 1 0.002 68962 chr19 11040127 11040127 T C rs34083039 TIMM29 Nonsynonymous SNV W178R 0 0.008 0.003 7 0 3 0.018 1 0 0 0 1 0.066 68963 chr19 11040372 11040372 G C rs35087899 TIMM29 Synonymous SNV P259P 0 0.008 0.003 7 0 3 0.018 1 0 0 0 1 4.505 68964 chr19 44934187 44934187 G A rs144097942 ZNF229 Nonsynonymous SNV R251C 0.033 0.036 0.017 27 39 14 0.069 5 0 0 0 2 18.63 68965 chr8 22033703 22033703 C T rs147403315 BMP1 Nonsynonymous SNV P104S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.094 68966 chr9 117835931 117835931 G A rs3748172 TNC Synonymous SNV A1055A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.8 68967 chr9 117848197 117848197 C T rs3827816 TNC Nonsynonymous SNV V605I 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Benign 9.452 68968 chr8 22421818 22421818 T C rs62492622 SORBS3 Nonsynonymous SNV V233A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.001 68969 chr19 36633559 36633559 A G rs116114216 CAPNS1 Synonymous SNV P83P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.333 68970 chr9 118164574 118164574 G A rs3750505 DEC1 0 0 0.031 0 0 0 0 9 0 0 0 0 2.456 68971 chr8 22868060 22868060 C T RHOBTB2 Nonsynonymous SNV P551S 0.003 0 0 0 3 0 0 0 0 0 0 0 32 68972 chr19 17836943 17836943 C T rs115609579 MAP1S Synonymous SNV L224L 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 6.815 68973 chr9 124535558 124535558 C T DAB2IP Synonymous SNV I793I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 68974 chr19 372661 372661 C A rs2303810 THEG Nonsynonymous SNV R178I 0.053 0.042 0.044 16 62 16 0.041 13 4 0 0 0 25.6 68975 chr19 372692 372692 G A rs146544514 THEG Nonsynonymous SNV R168C 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 21.4 68976 chr19 37487685 37487685 G T rs368808353 ZNF568 Nonsynonymous SNV E300D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 68977 chr19 14000196 14000196 G T rs61732721 C19orf57 Nonsynonymous SNV D373E 0.005 0.005 0 7 6 2 0.018 0 0 0 0 1 14.99 68978 chr19 14024269 14024269 C T rs61740117 CC2D1A Nonsynonymous SNV A189V 0.006 0.005 0 7 7 2 0.018 0 0 0 0 1 Benign/Likely benign 11.84 68979 chr19 14165823 14165823 C T rs199628896 PALM3 Nonsynonymous SNV E155K 0.014 0.005 0.01 6 16 2 0.015 3 0 0 1 1 0.23 68980 chr19 3752979 3752979 T A rs149280428 APBA3 Nonsynonymous SNV I341F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 68981 chr19 1469521 1469521 G A rs895459171 APC2 Nonsynonymous SNV R2073Q 0 0 0 3 0 0 0.008 0 0 0 0 0 33 68982 chr19 5455960 5455960 G A rs371344837 ZNRF4 Nonsynonymous SNV R153H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.612 68983 chr8 25323778 25323778 G A rs747980813 CDCA2 Nonsynonymous SNV E144K 0.003 0 0 0 3 0 0 0 0 0 0 0 17.43 68984 chr19 45496011 45496011 G T rs1002440167 CLPTM1 Synonymous SNV T608T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.149 68985 chr19 53086032 53086032 C T rs427127 ZNF701 Synonymous SNV D240D 0.023 0.016 0.017 8 27 6 0.021 5 0 0 1 0 4.151 68986 chr19 54721215 54721215 C T rs1053011 LILRB3 Synonymous SNV V575V 0.049 0.049 0 17 58 19 0.044 0 1 0 0 0 1.851 68987 chr19 54721216 54721216 A G rs1053008 LILRB3 Nonsynonymous SNV V575A 0.056 0.055 0.003 18 66 21 0.046 1 3 0 0 0 0.002 68988 chr19 38377772 38377772 C T rs112783899 WDR87 Nonsynonymous SNV R2180Q 0.016 0.008 0.014 3 19 3 0.008 4 1 0 0 0 Benign 16.39 68989 chr19 53409877 53409877 T C rs117577286 ZNF888 Synonymous SNV A566A 0.02 0.026 0.01 5 24 10 0.013 3 0 0 0 0 0.193 68990 chr9 125873303 125873303 G A rs56245763 MIR600HG 0 0 0.014 0 0 0 0 4 0 0 0 0 4.04 68991 chr19 1506086 1506086 G A rs186786015 ADAMTSL5 Synonymous SNV A448A 0 0 0.003 3 0 0 0.008 1 0 0 0 0 12.4 68992 chr19 15083555 15083555 G A rs115001292 SLC1A6 Synonymous SNV N56N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.25 68993 chr19 23545525 23545525 T C rs139015019 ZNF91 Nonsynonymous SNV I54V 0.011 0.013 0 6 13 5 0.015 0 0 0 0 0 0.002 68994 chr19 53644892 53644892 C T rs200933013 ZNF347 Nonsynonymous SNV G398R 0.003 0.01 0.02 0 3 4 0 6 0 0 0 0 25.4 68995 chr19 46002466 46002466 C G PPM1N Nonsynonymous SNV P246A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 68996 chr8 27667829 27667830 TC - PBK D332Cfs*13 0.003 0 0 0 3 0 0 0 0 0 0 0 68997 chr9 126135908 126135908 C T CRB2 Nonsynonymous SNV A1033V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 68998 chr19 53762627 53762627 C A rs897127126 VN1R2 Synonymous SNV I333I 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 8.964 68999 chr19 46289009 46289009 G A rs146577305 DMWD Nonsynonymous SNV A582V 0.009 0.005 0.02 0 11 2 0 6 0 0 0 0 22.8 69000 chr8 28196943 28196943 C A rs377074844 PNOC Nonsynonymous SNV H107Q 0.003 0 0 0 3 0 0 0 0 0 0 0 16.27 69001 chr19 2936664 2936664 G C rs144419578 ZNF77 Nonsynonymous SNV Q57E 0.017 0.013 0.003 4 20 5 0.01 1 0 0 0 0 3.223 69002 chr8 29024943 29024943 G A rs117139027 KIF13B Nonsynonymous SNV R369W 0.034 0.023 0.02 5 40 9 0.013 6 1 0 0 0 35 69003 chr19 3148648 3148648 G A rs752447530 GNA15 Nonsynonymous SNV G69S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.3 69004 chr19 39009883 39009883 C A rs200355885 RYR1 Synonymous SNV R3350R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 69005 chr19 39062775 39062775 G A rs140750876 RYR1 Synonymous SNV E4616E 0.007 0 0 3 8 0 0.008 0 0 0 0 0 Likely benign 10.95 69006 chr19 54577419 54577419 G A rs145288894 TARM1 Synonymous SNV T137T 0.021 0.01 0.024 7 25 4 0.018 7 1 0 0 0 7.134 69007 chr19 38990336 38990336 C T rs2228071 RYR1 Synonymous SNV C2363C 0.055 0.065 0.078 26 64 25 0.067 23 2 0 0 0 Benign 12.33 69008 chr19 38990345 38990345 C T rs2229147 RYR1 Synonymous SNV P2366P 0.052 0.068 0.082 26 61 26 0.067 24 2 0 0 0 Benign 19.26 69009 chr19 33167865 33167865 G A rs150936907 RGS9BP Synonymous SNV A232A 0.032 0.018 0.017 9 37 7 0.023 5 1 0 0 0 Benign 15.8 69010 chr19 19655421 19655421 C G rs180948080 CILP2 Synonymous SNV G689G 0.016 0.005 0.007 5 19 2 0.013 2 0 0 0 0 3.174 69011 chr19 33309053 33309053 G A rs117126503 TDRD12 Nonsynonymous SNV G1125R 0.026 0.01 0.037 12 30 4 0.031 11 1 0 0 0 2.586 69012 chr19 19655657 19655657 C G rs183579609 CILP2 Nonsynonymous SNV A768G 0.016 0.005 0.007 5 19 2 0.013 2 0 0 0 0 10.15 69013 chr19 19656556 19656556 A G rs147526697 CILP2 Nonsynonymous SNV S1068G 0.014 0.003 0.007 3 17 1 0.008 2 0 0 0 0 21.6 69014 chr19 19674370 19674370 C T rs141765874 PBX4 Nonsynonymous SNV R327Q 0.021 0.01 0.014 5 25 4 0.013 4 0 0 0 0 3.351 69015 chr19 19747795 19747795 G C rs371610378 GMIP Nonsynonymous SNV P390A 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 0.088 69016 chr19 39008021 39008023 GGA - rs780480139 RYR1 E3238del 0.001 0 0 0 1 0 0 0 0 0 0 0 69017 chr19 54678006 54678006 C T rs545959971 MBOAT7 Nonsynonymous SNV R311Q 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Uncertain significance 24.5 69018 chr19 39798615 39798615 A G rs367736985 LRFN1 Synonymous SNV T658T 0.006 0 0 3 7 0 0.008 0 0 0 0 0 1.021 69019 chr8 39521389 39521389 T C rs147445686 ADAM18 Nonsynonymous SNV C412R 0.003 0 0 0 4 0 0 0 0 0 0 0 27.9 69020 chr19 16280516 16280516 G A rs111791587 CIB3 Synonymous SNV L41L 0.005 0.003 0.003 9 6 1 0.023 1 0 0 0 1 9.124 69021 chr19 3543584 3543584 G C rs557824671 C19orf71 Nonsynonymous SNV W118C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.5 69022 chr19 3982037 3982037 C T EEF2 Nonsynonymous SNV A269T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.6 69023 chr9 131580998 131580998 C T rs2293969 ENDOG Nonsynonymous SNV S12L 0.243 0.193 0.35 105 285 74 0.269 103 135 34 46 50 16.34 69024 chr9 131744856 131744856 A G rs900470498 NUP188 Synonymous SNV Q515Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.197 69025 chr19 35530119 35530119 A G SCN1B Nonsynonymous SNV K183E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.34 69026 chr9 131904777 131904777 C T rs11554659 PTPA Synonymous SNV A251A 0.011 0.01 0.014 3 13 4 0.008 4 0 0 0 0 Benign 19.92 69027 chr8 41591534 41591534 C G rs61753680 ANK1 Synonymous SNV V61V 0.008 0.008 0.017 0 9 3 0 5 0 0 0 0 Benign/Likely benign 13.36 69028 chr19 40580506 40580506 A T rs142531830 ZNF780A Nonsynonymous SNV C615S 0.014 0.008 0 6 16 3 0.015 0 0 0 0 0 20.3 69029 chr8 42296992 42296992 C T rs73675069 SLC20A2 Nonsynonymous SNV G304S 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 Benign 9.722 69030 chr19 55898046 55898046 A C rs141134492 RPL28 Nonsynonymous SNV I64L 0.003 0.01 0 5 4 4 0.013 0 0 0 0 0 13.73 69031 chr19 39996089 39996089 A G rs142597040 DLL3 Nonsynonymous SNV N364S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Uncertain significance 25.2 69032 chr8 49643960 49643960 C T rs74697155 EFCAB1 Nonsynonymous SNV R54Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 69033 chr19 55964720 55964720 G A rs2303089 ISOC2 Synonymous SNV S121S 0.03 0.039 0.027 16 35 15 0.041 8 0 2 0 0 12.63 69034 chr19 2245457 2245457 A G rs116548172 SF3A2 Synonymous SNV A86A 0.02 0.01 0.024 16 23 4 0.041 7 0 0 0 0 5.854 69035 chr19 17049224 17049224 G A rs58391516 CPAMD8 Synonymous SNV S942S 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 Benign 4.248 69036 chr8 53558307 53558307 A T rs34701924 RB1CC1 Nonsynonymous SNV N1314K 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 Benign 23.9 69037 chr19 48800569 48800569 G A rs147072026 CCDC114 Synonymous SNV H559H 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign/Likely benign 1.058 69038 chr8 59492275 59492275 T C rs145389847 SDCBP Synonymous SNV D165D 0.008 0.003 0.024 1 9 1 0.003 7 0 0 0 0 7.871 69039 chr19 55592703 55592703 G A rs748912216 EPS8L1 Nonsynonymous SNV G79D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.356 69040 chr8 61707572 61707572 T C rs79302359 CHD7 Synonymous SNV S708S 0.013 0.008 0.014 5 15 3 0.013 4 0 0 0 0 Benign 7.078 69041 chr19 56052622 56052622 C T rs996821293 SBK3 Nonsynonymous SNV D224N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 29.1 69042 chr19 17397457 17397458 GT - rs764791116 ANKLE1 C590Ffs*34 0.044 0.042 0.007 15 52 16 0.038 2 0 0 0 0 69043 chr8 67342165 67342165 A T rs144551617 RRS1 Nonsynonymous SNV N267Y 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Likely benign 14.41 69044 chr19 17547324 17547324 C T rs1032015769 TMEM221 Nonsynonymous SNV M273I 0 0 0 2 0 0 0.005 0 0 0 0 0 26.3 69045 chr19 36515380 36515380 T C CLIP3 Nonsynonymous SNV N279S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.5 69046 chr19 55738849 55738849 G A rs376636878 TMEM86B Synonymous SNV L126L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.96 69047 chr8 69243580 69243580 G A rs117939476 C8orf34-AS1 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 24 69048 chr19 55865828 55865828 G A COX6B2 Nonsynonymous SNV P21L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 28.4 69049 chr19 49376683 49376683 A G rs45533432 PPP1R15A Nonsynonymous SNV R65G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.176 69050 chr19 2917178 2917178 G A rs61742111 ZNF57 Nonsynonymous SNV G155R 0.052 0.055 0.048 20 61 21 0.051 14 1 0 0 2 5.763 69051 chr19 41932194 41932194 G T B3GNT8 Synonymous SNV R164R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 69052 chr19 2917509 2917509 G A rs61754927 ZNF57 Nonsynonymous SNV R265K 0.052 0.055 0.048 20 61 21 0.051 14 1 0 0 2 0.21 69053 chr19 2917522 2917522 G A rs61754924 ZNF57 Synonymous SNV T269T 0.052 0.055 0.048 20 61 21 0.051 14 1 0 0 2 8.548 69054 chr19 2917798 2917798 A G rs61755868 ZNF57 Synonymous SNV K361K 0.051 0.055 0.048 20 60 21 0.051 14 1 0 0 2 0.672 69055 chr19 41040116 41040116 G A SPTBN4 Nonsynonymous SNV A85T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 69056 chr19 37117448 37117448 T G rs140960165 ZNF382 Nonsynonymous SNV C216G 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 17.46 69057 chr19 56543982 56543982 G T rs17713875 NLRP5 Nonsynonymous SNV R761L 0.038 0.047 0.051 15 45 18 0.038 15 0 0 0 0 1.185 69058 chr19 18053557 18053557 C G rs4808106 CCDC124 Synonymous SNV G84G 0.02 0.029 0.007 10 23 11 0.026 2 0 0 0 0 14.32 69059 chr19 33355028 33355030 ACA - SLC7A9 V151del 0.001 0 0 0 1 0 0 0 0 0 0 0 69060 chr9 136915571 136915571 G A rs201357544 BRD3 Synonymous SNV V213V 0 0 0.01 0 0 0 0 3 0 0 0 0 9.973 69061 chr9 137741480 137741480 G A rs113454901 MIR3689D1 0 0 0.058 0 0 0 0 17 0 0 6 0 3.406 69062 chr19 4362705 4362705 G A rs746644425 SH3GL1 Nonsynonymous SNV R205W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.5 69063 chr9 137742597 137742597 A G rs72502717 MIR3689F 0 0 0.126 0 0 0 0 37 0 0 0 0 2.574 69064 chr8 90770315 90770315 C T rs2293809 RIPK2 Synonymous SNV A9A 0.02 0.018 0.024 7 23 7 0.018 7 0 0 0 0 21.4 69065 chr19 1827714 1827714 G C rs35091505 REXO1 Synonymous SNV S358S 0.012 0.018 0.003 10 14 7 0.026 1 0 0 0 0 0.477 69066 chr19 56953257 56953257 C A ZNF667 Synonymous SNV R369R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 5.635 69067 chr9 138387389 138387389 G C C9orf116 Nonsynonymous SNV L99V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 69068 chr8 90983460 90983460 G A rs34767364 NBN Nonsynonymous SNV R215W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 69069 chr9 139092571 139092571 C T rs33998096 LHX3 Synonymous SNV Q25Q 0.005 0.005 0.014 5 6 2 0.013 4 0 0 0 0 Likely benign 3.497 69070 chr19 57066607 57066607 G A rs142510339 ZFP28 Nonsynonymous SNV S818N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 21.8 69071 chr19 38056087 38056087 C T rs45542635 ZNF571 Nonsynonymous SNV G415R 0.033 0.039 0.024 13 39 15 0.033 7 0 0 0 0 26.2 69072 chr19 42486172 42486172 C T rs370511776 ATP1A3 Synonymous SNV T371T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign/Likely benign 16.63 69073 chr19 5720074 5720074 G T rs11551011 LONP1 Nonsynonymous SNV L24M 0.003 0.023 0.003 3 4 9 0.008 1 0 1 0 0 Benign/Likely benign 18.8 69074 chr19 4292714 4292731 GGGCTGGGGCAGGGTCTT - rs751658386 TMIGD2 C127_P132del 0.002 0 0 0 2 0 0 0 0 0 0 0 69075 chr19 5749171 5749171 A G rs72983139 CATSPERD Nonsynonymous SNV I322V 0.029 0.052 0.024 10 34 20 0.026 7 1 0 0 0 0.001 69076 chr19 57640664 57640664 G A rs35732035 USP29 Synonymous SNV R207R 0.009 0.016 0.034 4 11 6 0.01 10 0 0 0 0 Benign 0.94 69077 chr9 139362877 139362877 G A rs140009539 SEC16A Synonymous SNV Y1264Y 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 1.087 69078 chr19 56739694 56739694 T A rs571019272 ZSCAN5A Nonsynonymous SNV R28S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.608 69079 chr8 97892059 97892059 C T rs61741750 CPQ Synonymous SNV G225G 0.049 0.042 0.014 10 58 16 0.026 4 1 0 0 0 16.09 69080 chr19 507731 507731 C T rs16990489 TPGS1 Synonymous SNV G75G 0.011 0.01 0.007 6 13 4 0.015 2 0 0 0 0 18.64 69081 chr9 139371049 139371049 C T rs183141757 SEC16A Nonsynonymous SNV G340E 0.001 0 0.01 0 1 0 0 3 0 0 0 0 10.73 69082 chr19 38383767 38383767 T G rs140149327 WDR87 Nonsynonymous SNV Q859P 0.033 0.039 0.02 11 39 15 0.028 6 0 0 0 0 0.007 69083 chr9 139412256 139412256 G A rs61733293 NOTCH1 Synonymous SNV N463N 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 11.85 69084 chr19 38572367 38572367 - GCCACC rs569252662 SIPA1L3 T64_T65insAT 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 69085 chr19 38609990 38609990 C T rs201468978 SIPA1L3 Nonsynonymous SNV P779L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.7 69086 chr19 20308130 20308130 A T rs782200357 ZNF486 Nonsynonymous SNV D204V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.31 69087 chr19 57286568 57286568 A G rs148139560 ZIM2 Nonsynonymous SNV C358R 0.032 0.042 0.02 7 38 16 0.018 6 1 2 0 0 24.3 69088 chr19 580710 580710 G A rs1803535 BSG Synonymous SNV L60L 0.048 0.055 0.037 12 56 21 0.031 11 0 0 1 0 3.649 69089 chr19 4432065 4432065 C T rs749105195 CHAF1A Synonymous SNV C688C 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.91 69090 chr19 57723948 57723948 A G rs144632393 ZNF264 Nonsynonymous SNV M495V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.148 69091 chr19 38877478 38877478 G T rs367750094 GGN Nonsynonymous SNV L142M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 14.26 69092 chr19 57876390 57876390 T C rs184372842 TRAPPC2B Synonymous SNV T63T 0.014 0.021 0.02 4 16 8 0.01 6 0 0 0 0 2.601 69093 chr19 44681808 44681808 A - rs760285301 ZNF226 K800Nfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 69094 chr19 39010023 39010023 C T rs2229145 RYR1 Synonymous SNV D3396D 0.05 0.065 0.061 25 59 25 0.064 18 0 0 0 0 Benign 15.48 69095 chr19 39056291 39056291 C T rs113579185 RYR1 Synonymous SNV A4434A 0.054 0.06 0.058 24 63 23 0.062 17 1 0 0 0 Benign/Likely benign 18.22 69096 chr19 39061258 39061258 C G rs35959206 RYR1 Synonymous SNV S4552S 0.062 0.068 0.075 26 73 26 0.067 22 1 1 1 0 Benign 13.48 69097 chr19 58823650 58823650 G A ERVK3-1, ZNF8-ERVK3-1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.69 69098 chr19 58862916 58862916 G - rs764833418 A1BG L251Wfs*16 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 69099 chr9 140040288 140040288 C T rs761896024 GRIN1 Synonymous SNV S168S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 69100 chr9 140066103 140066103 G A rs72763276 TMEM210 Nonsynonymous SNV R72W 0.005 0.013 0.014 1 6 5 0.003 4 0 0 0 0 25.6 69101 chr9 140126204 140126204 C T rs750770872 SLC34A3 Nonsynonymous SNV A17V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.279 69102 chr8 110503281 110503281 A G rs182303219 PKHD1L1 Synonymous SNV T3355T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.621 69103 chr19 45029241 45029241 G C CEACAM20 Nonsynonymous SNV A30G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 4.057 69104 chr19 58452958 58452958 A T rs775638342 ZNF256 Synonymous SNV P406P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 69105 chr19 39955515 39955515 C T rs2304216 SUPT5H Synonymous SNV H230H 0.035 0.034 0.048 9 41 13 0.023 14 1 0 0 0 11.88 69106 chr19 39993470 39993470 T A rs55741253 DLL3 Nonsynonymous SNV L142Q 0.014 0.008 0.037 4 16 3 0.01 11 1 0 0 0 Benign/Likely benign 24.3 69107 chr19 51850306 51850306 A G ETFB Nonsynonymous SNV F240L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 69108 chr19 3730462 3730462 T G rs147974910 TJP3 Nonsynonymous SNV V124G 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 0.005 69109 chr19 51871178 51871178 A G rs35337369 CLDND2 Nonsynonymous SNV L91P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.19 69110 chr19 44777628 44777628 A G rs775145055 ZNF233 Nonsynonymous SNV N272S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.001 69111 chr19 58879660 58879660 T C rs61746138 ZNF837 Nonsynonymous SNV Y347C 0.06 0.078 0.034 26 70 30 0.067 10 2 2 0 0 0.231 69112 chr19 44831613 44831613 G A rs61733038 ZNF112 Synonymous SNV H838H 0.016 0.005 0.007 3 19 2 0.008 2 0 0 0 0 0.294 69113 chr19 58879701 58879701 C G rs61746129 ZNF837 Synonymous SNV A333A 0.058 0.076 0.034 25 68 29 0.064 10 2 2 0 0 11.41 69114 chr8 123964819 123964819 G A rs9649951 ZHX2 Nonsynonymous SNV V357M 0.029 0.021 0.024 10 34 8 0.026 7 0 0 0 0 1.428 69115 chr19 58880016 58880016 G C rs7255916 ZNF837 Synonymous SNV A228A 0.058 0.07 0.034 26 68 27 0.067 10 2 2 0 0 1.208 69116 chr19 58880184 58880184 T C rs7256809 ZNF837 Synonymous SNV P172P 0.057 0.073 0.034 26 67 28 0.067 10 2 2 0 0 0.036 69117 chr19 58880242 58880242 T C rs7256940 ZNF837 Nonsynonymous SNV Q153R 0.058 0.07 0.034 26 68 27 0.067 10 2 2 0 0 0.001 69118 chr19 58904396 58904396 G A rs6721 RPS5 Synonymous SNV G54G 0.059 0.07 0.037 25 69 27 0.064 11 2 2 1 0 11.14 69119 chr19 40316835 40316835 C T rs376532410 DYRK1B Synonymous SNV E501E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Likely benign 5.174 69120 chr9 17340864 17340864 C T rs3808782 CNTLN Nonsynonymous SNV R562C 0.048 0.052 0.061 21 56 20 0.054 18 1 0 1 1 27 69121 chr19 40440482 40440482 G T rs75388508 FCGBP Nonsynonymous SNV T15N 0.015 0.016 0.014 7 18 6 0.018 4 1 0 0 0 9.643 69122 chr19 45322891 45322891 C T rs28399658 BCAM Synonymous SNV S557S 0.049 0.044 0.054 23 57 17 0.059 16 1 1 1 1 20.9 69123 chr19 40478362 40478362 T C rs35555615 PSMC4 Synonymous SNV H74H 0.018 0.018 0.031 9 21 7 0.023 9 0 0 0 0 3.771 69124 chr19 40486606 40486606 T C rs1127090 PSMC4 Synonymous SNV I375I 0.024 0.026 0.034 13 28 10 0.033 10 1 0 0 0 10.65 69125 chr19 45322962 45322962 A T rs28399659 BCAM Nonsynonymous SNV Q581L 0.049 0.044 0.054 22 57 17 0.056 16 1 1 1 1 8.07 69126 chr19 40540812 40540812 G A rs115484124 ZNF780B Nonsynonymous SNV R652C 0.015 0.016 0.01 7 18 6 0.018 3 1 0 0 0 13.34 69127 chr19 6744909 6744909 C T rs62125119 TRIP10 Synonymous SNV S296S 0.013 0.008 0.02 7 15 3 0.018 6 0 0 0 0 16.86 69128 chr9 19126281 19126281 C T rs2228416 PLIN2 Synonymous SNV L19L 0.049 0.073 0.065 23 57 28 0.059 19 0 3 0 1 13.46 69129 chr19 5210789 5210789 C T rs756926448 PTPRS Synonymous SNV Q1307Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.59 69130 chr19 59082368 59082368 C T rs3752111 MZF1 Nonsynonymous SNV R130Q 0.032 0.049 0.034 13 37 19 0.033 10 1 0 0 1 23.9 69131 chr19 40742170 40742170 C T rs775757041 AKT2 Synonymous SNV A256A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 18.21 69132 chr19 45489711 45489712 AG - CLPTM1 0.001 0 0 0 1 0 0 0 0 0 0 0 69133 chr19 37879818 37879818 T C rs756080589 ZNF527 Synonymous SNV F289F 0.004 0 0 0 5 0 0 0 0 0 0 0 2.75 69134 chr19 45575216 45575216 C T rs141004234 ZNF296 Synonymous SNV T357T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.814 69135 chr19 6044290 6044290 C A RFX2 Nonsynonymous SNV V32L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 69136 chr19 45851409 45851409 T C rs370748370 KLC3 Nonsynonymous SNV L257P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 69137 chr19 623546 623546 A G rs41553913 POLRMT Nonsynonymous SNV F400L 0.015 0.018 0.003 4 18 7 0.01 1 0 0 0 0 22.7 69138 chr8 131165000 131165000 C T rs74370122 ASAP1 Synonymous SNV L354L 0.054 0.073 0.088 21 63 28 0.054 26 0 1 1 0 13.88 69139 chr19 41223203 41223203 G C rs185356090 ITPKC Nonsynonymous SNV G55R 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 13.47 69140 chr19 3816751 3816751 C T rs140470221 ZFR2 Nonsynonymous SNV R675H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.091 69141 chr8 131859744 131859744 C G rs201870639 ADCY8 Nonsynonymous SNV D810H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 69142 chr9 24545589 24545589 C T rs148504271 IZUMO3 Nonsynonymous SNV G20D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 69143 chr19 4512541 4512541 C T rs139885054 PLIN4 Synonymous SNV A477A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.43 69144 chr19 3821408 3821408 G A rs61742027 ZFR2 Nonsynonymous SNV R521C 0.04 0.021 0.034 19 47 8 0.049 10 1 0 0 0 22.8 69145 chr19 52469312 52469312 G A rs28997584 ZNF350 Nonsynonymous SNV R132C 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 6.275 69146 chr19 46318405 46318405 G C RSPH6A Synonymous SNV R10R 0.005 0 0 2 6 0 0.005 0 0 0 0 0 1.362 69147 chr19 7565988 7565988 T A rs79777490 TEX45 Nonsynonymous SNV W94R 0.014 0.016 0.01 4 17 6 0.01 3 0 0 0 0 0.502 69148 chr19 651754 651754 C T rs139564628 RNF126 Synonymous SNV A100A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.94 69149 chr19 46443473 46443484 CCGCCCGCCCCG - NOVA2 A374_G377del 0.001 0 0 0 1 0 0 0 0 0 0 0 69150 chr19 33616077 33616077 C T rs73039449 GPATCH1 Nonsynonymous SNV A863V 0.03 0.052 0.017 12 35 20 0.031 5 1 0 0 0 Benign 19.2 69151 chr19 467735 467735 G A ODF3L2 Nonsynonymous SNV P88L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 69152 chr19 38573347 38573347 T C rs61729133 SIPA1L3 Nonsynonymous SNV M381T 0.034 0.047 0.034 10 40 18 0.026 10 0 0 0 0 0.019 69153 chr19 33696362 33696362 C T rs142226273 LRP3 Nonsynonymous SNV P229L 0.002 0 0 6 2 0 0.015 0 0 0 0 0 23.6 69154 chr19 46973707 46973707 C T rs111356009 PNMA8A Nonsynonymous SNV V196M 0.009 0.008 0.014 2 11 3 0.005 4 0 0 0 0 12.45 69155 chr19 38706886 38706886 G A rs34837947 DPF1 Synonymous SNV P247P 0.031 0.029 0.031 8 36 11 0.021 9 0 0 0 0 10.9 69156 chr19 42474392 42474392 C T rs45606534 ATP1A3 Synonymous SNV P840P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 15.13 69157 chr19 472473 472473 C T rs199818257 ODF3L2 Synonymous SNV P52P 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 17.7 69158 chr19 34262327 34262327 T G rs767511543 CHST8 Nonsynonymous SNV F47C 0.001 0 0 6 1 0 0.015 0 0 0 0 0 25.4 69159 chr19 38817447 38817447 C T rs368336056 KCNK6 Synonymous SNV V179V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.956 69160 chr19 45682920 45682920 C T rs571269735 BLOC1S3 Synonymous SNV H122H 0.013 0.01 0.014 10 15 4 0.026 4 0 0 0 0 Benign/Likely benign 14.89 69161 chr19 48047729 48047729 G C rs143702897 ZNF541 Nonsynonymous SNV T686S 0.02 0.013 0.041 11 24 5 0.028 12 1 0 0 0 13.27 69162 chr19 746301 746301 C T rs147039237 PALM Synonymous SNV D173D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 12.23 69163 chr19 46248557 46248557 C T rs75987583 BHMG1 Nonsynonymous SNV T95M 0.014 0.013 0.017 3 16 5 0.008 5 0 0 1 0 23.4 69164 chr19 4839536 4839536 G A rs750840191 PLIN3 Nonsynonymous SNV R324W 0.001 0 0 0 1 0 0 0 0 0 0 0 26 69165 chr9 35679251 35679251 A G rs3829078 CA9 Nonsynonymous SNV Q326R 0.052 0.06 0.088 22 61 23 0.056 26 2 0 2 1 0.328 69166 chr19 53418571 53418571 A C rs200803482 ZNF888 Nonsynonymous SNV L7R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.178 69167 chr19 7964859 7964859 C A rs139734410 LRRC8E Nonsynonymous SNV D355E 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 Benign 15.07 69168 chr19 53432251 53432251 G C rs200563505 ZNF816-ZNF321P Nonsynonymous SNV R203G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 69169 chr19 7975668 7975757 CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA - MAP2K7 L219_A225del 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 69170 chr19 7981590 7981590 G A rs754228433 TGFBR3L Synonymous SNV G120G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.873 69171 chr19 46289059 46289059 G A rs61744166 DMWD Synonymous SNV S565S 0.01 0.01 0.003 3 12 4 0.008 1 0 0 0 0 4.472 69172 chr8 143745968 143745968 C T rs35283248 JRK Nonsynonymous SNV R503Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.668 69173 chr19 46394250 46394250 G A rs368734330 MYPOP Synonymous SNV A277A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.42 69174 chr19 35786697 35786697 G A rs142334011 MAG Synonymous SNV S51S 0.016 0.013 0.007 11 19 5 0.028 2 0 0 0 0 Benign 8.026 69175 chr9 36085307 36085307 C T rs16932906 RECK Nonsynonymous SNV R228C 0.039 0.036 0.071 11 46 14 0.028 21 0 0 1 0 2.26 69176 chr19 53553755 53553755 G A rs141112128 ERVV-2 Synonymous SNV E417E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.108 69177 chr9 36087876 36087876 G A rs16932912 RECK Nonsynonymous SNV V275I 0.05 0.049 0.071 12 59 19 0.031 21 0 0 1 0 19.15 69178 chr19 48525466 48525466 C T rs35700000 ELSPBP1 Nonsynonymous SNV P185L 0.041 0.029 0.048 15 48 11 0.038 14 0 0 0 0 31 69179 chr19 53576604 53576604 C A rs114810540 ZNF160 Nonsynonymous SNV G144C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.242 69180 chr19 35836600 35836600 C A rs34826052 CD22 Synonymous SNV P591P 0.019 0.029 0.014 3 22 11 0.008 4 0 1 0 0 12.31 69181 chr19 8130867 8130867 G T rs35794930 FBN3 Nonsynonymous SNV P2789Q 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 Likely benign 0.008 69182 chr19 8138104 8138104 C T rs35318692 FBN3 Nonsynonymous SNV V2594I 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 Likely benign 24.6 69183 chr19 35991440 35991440 C T rs547354931 DMKN Nonsynonymous SNV D42N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.81 69184 chr19 53612855 53612855 T G rs16984466 ZNF415 Nonsynonymous SNV H148P 0.001 0.005 0.014 0 1 2 0 4 0 0 0 0 0.003 69185 chr19 46807185 46807185 C T rs142517237 HIF3A Synonymous SNV S17S 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 18.46 69186 chr19 53644704 53644704 A G rs61729686 ZNF347 Synonymous SNV C460C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.367 69187 chr19 40317965 40317965 C G rs148897290 DYRK1B Nonsynonymous SNV G352A 0.005 0 0.003 0 6 0 0 1 0 0 0 0 10.32 69188 chr19 40321096 40321096 A G rs149848740 DYRK1B Synonymous SNV H97H 0.005 0 0.003 0 6 0 0 1 0 0 0 0 4.574 69189 chr19 36224078 36224078 C T rs373926591 KMT2B Nonsynonymous SNV P2210S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 21.9 69190 chr19 36256027 36256027 C T rs201009511 PROSER3 Nonsynonymous SNV S240L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.2 69191 chr19 53793750 53793750 T A rs151171787 BIRC8 0.02 0.023 0.024 6 24 9 0.015 7 1 0 0 0 5.129 69192 chr19 40742179 40742179 C T rs150000674 AKT2 Synonymous SNV E253E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 14 69193 chr8 144620246 144620246 A G rs72691463 ZC3H3 Nonsynonymous SNV S431P 0.027 0.016 0.003 10 32 6 0.026 1 2 0 0 0 13.3 69194 chr19 41096270 41096270 C T rs142057788 SHKBP1 Synonymous SNV N570N 0.004 0 0 0 5 0 0 0 0 0 0 0 14.22 69195 chr19 41198211 41198211 T C rs144343899 COQ8B Nonsynonymous SNV Y414C 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 27.1 69196 chr9 5126399 5126399 T C rs766645393 JAK2 Synonymous SNV L933L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 69197 chr19 41712275 41712275 C T rs34971233 CYP2S1 Nonsynonymous SNV P466L 0.039 0.018 0.037 8 46 7 0.021 11 2 0 0 0 18.67 69198 chr9 6986464 6986464 G C rs35826653 KDM4C Nonsynonymous SNV S311T 0.043 0.055 0.054 14 50 21 0.036 16 0 0 1 0 0.025 69199 chr19 8551157 8551157 C T rs147306550 HNRNPM Synonymous SNV G480G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.6 69200 chr8 144789973 144789973 C A rs61731375 CCDC166 Nonsynonymous SNV A103S 0.033 0.021 0.01 12 39 8 0.031 3 1 0 0 0 6.913 69201 chr19 496532 496532 G A rs78668504 MADCAM1 Synonymous SNV G11G 0.05 0.049 0.088 25 59 19 0.064 26 5 2 1 2 2.085 69202 chr9 71998936 71998936 C T rs35386391 FAM189A2 Nonsynonymous SNV T233I 0.028 0.021 0.027 6 33 8 0.015 8 0 0 0 0 Benign 13.38 69203 chr19 49658438 49658438 G A rs145567121 HRC Synonymous SNV S19S 0.004 0.003 0.01 5 5 1 0.013 3 0 0 0 0 13.07 69204 chr19 3747896 3747896 G A rs145640324 TJP3 Synonymous SNV T809T 0.01 0.003 0.003 4 12 1 0.01 1 0 0 0 0 9.227 69205 chr19 8922677 8922677 C T rs139393484 ZNF558 Synonymous SNV T92T 0.005 0.016 0 6 6 6 0.015 0 0 0 0 0 13.52 69206 chr19 8931881 8931881 C T rs61746368 ZNF558 Synonymous SNV E3E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.23 69207 chr19 8982212 8982212 A G rs78717907 MUC16 Synonymous SNV H14021H 0.017 0.008 0.017 4 20 3 0.01 5 0 0 0 0 0.063 69208 chr19 54964806 54964806 G A rs201939037 LENG8 Nonsynonymous SNV A133T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.26 69209 chr19 8982266 8982266 G A rs76124866 MUC16 Synonymous SNV S14003S 0.017 0.008 0.014 4 20 3 0.01 4 0 0 0 0 6.747 69210 chr19 8993383 8993383 G C rs117289107 MUC16 Synonymous SNV L13902L 0.016 0.01 0.014 4 19 4 0.01 4 0 0 0 0 0.387 69211 chr8 144941832 144941832 C T rs143485250 EPPK1 Nonsynonymous SNV V1864I 0.014 0.008 0.007 3 17 3 0.008 2 0 0 0 0 0.005 69212 chr19 8997517 8997517 C T rs762059355 MUC16 Synonymous SNV V13635V 0.037 0.044 0 15 44 17 0.038 0 0 0 0 0 7.101 69213 chr8 144992269 144992269 G A rs78461695 PLEC Nonsynonymous SNV T3893M 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 Benign 25.9 69214 chr19 4323053 4323053 C T rs151077874 FSD1 Synonymous SNV G370G 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 14.88 69215 chr19 9006762 9006762 G A rs537132833 MUC16 Synonymous SNV T13162T 0.018 0.01 0 3 21 4 0.008 0 0 0 0 0 8.205 69216 chr19 501697 501697 - CCCAACACCACCTC rs758941486 MADCAM1 Frameshift insertion D234Nfs*77 0.046 0.049 0 22 54 19 0.056 0 4 1 0 2 69217 chr19 501701 501701 - GAGCCTCCCA MADCAM1 Frameshift insertion D234Gfs*64 0.047 0.055 0 22 55 21 0.056 0 4 2 0 2 69218 chr19 45260419 45260419 G T BCL3 Nonsynonymous SNV R222L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 69219 chr8 145112398 145112398 G A rs117057524 OPLAH Nonsynonymous SNV R459C 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 24.4 69220 chr19 49850568 49850568 G A rs139131757 TEAD2 Nonsynonymous SNV A266V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.12 69221 chr19 55752997 55752997 C T rs118109446 PPP6R1 Nonsynonymous SNV V286M 0.005 0.026 0.007 0 6 10 0 2 0 0 0 0 Benign 1.9 69222 chr19 38572894 38572894 C T rs45572940 SIPA1L3 Nonsynonymous SNV P230L 0.02 0.01 0.01 11 23 4 0.028 3 0 0 0 0 16.49 69223 chr9 90388370 90388370 G A rs7853691 CTSL3P 0 0 0.412 0 0 0 0 121 0 0 27 0 2.437 69224 chr19 38590700 38590700 T C rs56110924 SIPA1L3 Synonymous SNV Y588Y 0.014 0.008 0.01 5 16 3 0.013 3 0 0 0 0 0.049 69225 chr19 38643539 38643539 C T rs78686793 SIPA1L3 Nonsynonymous SNV T1198M 0.013 0.013 0.014 2 15 5 0.005 4 0 0 0 0 Benign 20.7 69226 chr9 90502457 90502457 G A rs147672124 SPATA31E1 Nonsynonymous SNV V1019M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.374 69227 chr19 55872247 55872247 C G FAM71E2 Nonsynonymous SNV R262T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.142 69228 chr9 93225765 93225765 C T rs1549508 LINC01501 0 0 0.401 0 0 0 0 118 0 0 30 0 3.056 69229 chr9 93225978 93225978 G A rs1549509 LINC01501 0 0 0.435 0 0 0 0 128 0 0 30 0 5.235 69230 chr19 38817958 38817958 G A rs140227388 KCNK6 Nonsynonymous SNV R286Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 7.179 69231 chr19 9072886 9072886 G C rs144194458 MUC16 Nonsynonymous SNV P4854A 0.005 0.008 0.003 1 6 3 0.003 1 0 1 0 0 0.011 69232 chr9 94949018 94949018 C T rs4744123 PRSS47 Nonsynonymous SNV G210R 0 0 0.139 0 0 0 0 41 0 0 1 0 6.632 69233 chr19 38861408 38861408 C G CATSPERG Synonymous SNV A1112A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.182 69234 chr19 51171030 51171030 G A SHANK1 Nonsynonymous SNV S1396L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 69235 chr8 145617531 145617531 C T ADCK5 Nonsynonymous SNV A418V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.9 69236 chr19 50091763 50091763 G A rs117225796 PRRG2 Nonsynonymous SNV R104Q 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 17.07 69237 chr19 9049436 9049436 C T rs146782398 MUC16 Nonsynonymous SNV G10732D 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 0.029 69238 chr9 96051100 96051100 C T rs41296061 WNK2 Nonsynonymous SNV S1355L 0.013 0.01 0.024 7 15 4 0.018 7 0 0 0 0 6.138 69239 chr8 145655860 145655860 G A rs34999346 TONSL Synonymous SNV S1290S 0.009 0.021 0.01 2 11 8 0.005 3 0 0 0 0 4.49 69240 chr9 96062407 96062407 A C WNK2 Nonsynonymous SNV S2064R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 69241 chr19 39068641 39068641 A C rs1468571 RYR1 Synonymous SNV T4747T 0.02 0.021 0.024 7 24 8 0.018 7 0 0 0 0 Benign 0.003 69242 chr8 145694023 145694023 G A rs117970388 KIFC2 Synonymous SNV G331G 0.007 0.016 0.014 9 8 6 0.023 4 0 0 0 0 11.58 69243 chr19 50321858 50321858 G A rs77400039 MED25 Synonymous SNV T55T 0.032 0.034 0.02 12 37 13 0.031 6 0 0 0 0 Benign 17.61 69244 chr8 145738669 145738669 C T rs34293591 RECQL4 Nonsynonymous SNV V799M 0.012 0.016 0.014 10 14 6 0.026 4 0 0 0 0 Benign 32 69245 chr9 97330031 97330031 G C rs2993963 PCAT7 0 0 0.19 0 0 0 0 56 0 0 17 0 1.475 69246 chr19 50360189 50360189 C A rs199688971 PTOV1-AS2 0.013 0.016 0.01 8 15 6 0.021 3 0 0 0 0 6.136 69247 chr19 50361353 50361353 C T rs2290286 PTOV1 Synonymous SNV L306L 0.032 0.044 0.034 21 38 17 0.054 10 0 0 0 1 14.68 69248 chr19 50365074 50365074 C A PNKP Nonsynonymous SNV R418L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.6 69249 chr9 98229297 98229297 G A rs2274693 LOC100507346 0 0 0.173 0 0 0 0 51 0 0 8 0 5.255 69250 chr8 145773342 145773344 CTG - rs138155129 ARHGAP39 Q376del 0.045 0.057 0.031 10 53 22 0.026 9 0 1 0 0 69251 chr19 56206102 56206102 G A rs371007476 EPN1 Synonymous SNV E399E 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 11.43 69252 chr19 50386040 50386040 C T TBC1D17 Nonsynonymous SNV P240L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.5 69253 chr9 98735226 98735226 A G rs113902031 ERCC6L2 Nonsynonymous SNV I1076V 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 0.164 69254 chr9 98766902 98766902 C A rs45604033 ERCC6L2 Nonsynonymous SNV P1209H 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 24.9 69255 chr19 47126849 47126849 G A rs4987262 PTGIR Nonsynonymous SNV R212C 0.013 0.023 0.007 8 15 9 0.021 2 0 0 0 0 33 69256 chrM 711 711 G A RNR1 0 0 0.187 0 0 0 0 55 0 0 27 0 69257 chrUn_gl000220 121990 121990 C G LOC100507412 0 0 0.371 0 0 0 0 109 0 0 0 0 69258 chrUn_gl000220 122085 122085 - T LOC100507412 0 0 0.211 0 0 0 0 62 0 0 0 0 69259 chrUn_gl000220 122221 122221 G T LOC100507412 0 0 0.347 0 0 0 0 102 0 0 0 0 69260 chrUn_gl000220 122625 122625 C T LOC100507412 0 0 0.116 0 0 0 0 34 0 0 0 0 69261 chr9 990653 990653 G T rs16927037 DMRT3 Nonsynonymous SNV G356V 0.068 0.076 0.054 33 80 29 0.085 16 5 0 1 2 0.019 69262 chr19 51988257 51988257 C T rs144361222 CEACAM18 Synonymous SNV V329V 0.009 0.029 0.003 5 11 11 0.013 1 0 1 0 0 2.801 69263 chr19 9086143 9086143 C T rs138381516 MUC16 Nonsynonymous SNV S1891N 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 0.825 69264 chr19 51022661 51022661 C T rs780355145 LRRC4B Synonymous SNV T103T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.3 69265 chrX 118239010 118239010 G A rs140434991 KIAA1210 Nonsynonymous SNV S338L 0.039 0.052 0.041 14 46 20 0.036 12 10 5 5 4 5.994 69266 chr9 4662470 4662470 G A PLPP6 Nonsynonymous SNV G32D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.98 69267 chr1 100174652 100174653 AC - FRRS1 C561Lfs*23 0.003 0.003 0 0 3 1 0 0 0 0 0 0 69268 chr19 48220166 48220166 C T rs148949873 EHD2 Synonymous SNV A99A 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 19.18 69269 chr19 40880407 40880407 G A rs146083475 PLD3 Nonsynonymous SNV C300Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 69270 chr19 57175121 57175121 G A rs115625349 ZNF835 Synonymous SNV A482A 0.021 0.039 0.027 5 25 15 0.013 8 0 1 0 0 13.5 69271 chr19 48248907 48248907 G C rs78530808 NOP53 Nonsynonymous SNV D31H 0.017 0.026 0.024 6 20 10 0.015 7 0 0 0 0 28 69272 chr19 48250243 48250243 C G rs138693122 NOP53 Nonsynonymous SNV P82A 0.006 0.013 0.007 3 7 5 0.008 2 0 0 0 0 10.96 69273 chr19 48254799 48254799 T C rs11538669 NOP53 Synonymous SNV V207V 0.017 0.026 0.034 6 20 10 0.015 10 0 0 0 0 2.845 69274 chr19 48259200 48259200 A G rs55813323 SNORD23 0.022 0.026 0.034 6 26 10 0.015 10 1 0 0 0 1.348 69275 chrX 132160161 132160161 T C rs149384548 USP26 Synonymous SNV P696P 0.013 0.003 0.007 3 15 1 0.008 2 4 0 1 0 Benign 0.007 69276 chr19 4538255 4538255 C T rs116298910 LRG1 Synonymous SNV K247K 0.036 0.034 0.034 7 42 13 0.018 10 0 0 0 0 8.211 69277 chr19 9213651 9213651 C T rs62621389 OR7G2 Nonsynonymous SNV R111Q 0.019 0.018 0.044 7 22 7 0.018 13 0 0 2 0 8.339 69278 chr19 51528022 51528022 G A KLK11 Synonymous SNV I23I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.49 69279 chr19 9236917 9236917 G - rs75266995 OR7G3 A237Vfs*9 0.019 0.018 0.044 6 22 7 0.015 13 0 0 2 0 69280 chrX 140994031 140994031 G C rs176044 MAGEC1 Nonsynonymous SNV V281L 0.002 0.003 0.007 2 2 1 0.005 2 0 0 1 0 0.002 69281 chr19 52568642 52568642 G A rs61743324 ZNF841 Synonymous SNV I715I 0.003 0 0.007 0 4 0 0 2 0 0 0 0 11.96 69282 chr1 109394564 109394564 T C rs17030016 AKNAD1 Synonymous SNV A241A 0.06 0.063 0.034 15 70 24 0.038 10 3 0 1 0 0.046 69283 chr19 52714527 52714527 G A rs142069409 PPP2R1A Synonymous SNV S95S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 4.826 69284 chr19 9639853 9639853 T C rs141169831 ZNF426 Nonsynonymous SNV R252G 0 0.008 0 0 0 3 0 0 0 0 0 0 3.517 69285 chr1 1007488 1007488 G A rs988074668 RNF223 Synonymous SNV R153R 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 4.686 69286 chr9 18887908 18887908 G C rs75551645 ADAMTSL1 Synonymous SNV L1443L 0.025 0.029 0.014 8 29 11 0.021 4 0 0 0 0 8.735 69287 chr19 46216540 46216548 GCGGAGCCG - rs779263838 FBXO46 P69_P71del 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 69288 chr9 20823013 20823013 T C rs35852117 FOCAD Synonymous SNV L607L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 2.547 69289 chr19 52919781 52919781 G A rs201245446 ZNF528 Nonsynonymous SNV R559Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.28 69290 chr1 10720254 10720254 G A rs61736951 CASZ1 Nonsynonymous SNV T282M 0.008 0.016 0.024 9 9 6 0.023 7 0 0 0 1 Benign 22.8 69291 chr9 21970916 21970916 C T rs3731249 CDKN2A Nonsynonymous SNV A148T 0.029 0.023 0.061 19 34 9 0.049 18 0 0 0 1 Benign 22.6 69292 chr19 52002957 52002957 C T rs73051357 SIGLEC12 Nonsynonymous SNV M156I 0.006 0 0.014 2 7 0 0.005 4 0 0 0 0 1.105 69293 chr19 58549322 58549322 C T rs148768169 ZSCAN1 Nonsynonymous SNV R40C 0.018 0.016 0.007 8 21 6 0.021 2 0 0 0 0 10.98 69294 chrX 153940861 153940861 G A rs17281349 GAB3 Nonsynonymous SNV P238S 0.035 0.065 0.044 28 41 25 0.072 13 8 6 3 8 0.033 69295 chr19 52089982 52089982 C G rs61736479 ZNF175 Nonsynonymous SNV S133C 0.013 0.016 0.007 5 15 6 0.013 2 0 0 0 0 13.4 69296 chr1 10707917 10707917 C T rs183960051 CASZ1 Synonymous SNV T1146T 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 17.43 69297 chr19 52217128 52217128 G A rs34682338 HAS1 Nonsynonymous SNV A429V 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 15.91 69298 chr19 52223026 52223026 C A rs61736497 HAS1 Synonymous SNV P44P 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 22.5 69299 chr1 109479959 109479959 G A rs56223817 CLCC1 Nonsynonymous SNV R190W 0.012 0.013 0.01 0 14 5 0 3 0 0 0 0 23.6 69300 chr19 47258956 47258956 C T rs149030303 FKRP Synonymous SNV A83A 0.016 0.013 0.003 8 19 5 0.021 1 0 0 0 0 Benign 13.75 69301 chrX 26158032 26158032 G A rs73202609 MAGEB18 Synonymous SNV E310E 0.009 0.008 0.02 1 10 3 0.003 6 2 1 1 0 0.292 69302 chr19 47280263 47280263 T G rs79376478 SLC1A5 Nonsynonymous SNV I251L 0.012 0.013 0.017 5 14 5 0.013 5 0 0 0 0 Benign 19.93 69303 chr19 5231548 5231548 G A rs754436545 PTPRS Nonsynonymous SNV P630L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 25.2 69304 chr1 11115126 11115126 C T rs146268378 SRM Nonsynonymous SNV E261K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.33 69305 chr19 47768204 47768204 G A rs202156396 CCDC9 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.2 69306 chr9 34241874 34241874 C T rs766186080 UBAP1 Nonsynonymous SNV A348V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 69307 chr19 49442735 49442735 C T rs2270940 DHDH Synonymous SNV S132S 0.039 0.023 0.02 17 46 9 0.044 6 0 0 0 0 13.22 69308 chr19 47844653 47844653 G A rs36046934 C5AR2 Synonymous SNV A199A 0.032 0.023 0.054 12 38 9 0.031 16 1 0 1 0 10.02 69309 chr19 49464754 49464754 C T rs766809725 BAX Synonymous SNV A163A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.09 69310 chr19 58980631 58980631 C T rs140605531 ZNF324 Nonsynonymous SNV R27C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.4 69311 chr19 48205413 48205413 G A rs376735528 BICRA Nonsynonymous SNV R1475H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 69312 chr19 49657613 49657613 G T rs139858400 HRC Nonsynonymous SNV S294R 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 10.89 69313 chr19 59074570 59074570 G T rs748715024 MZF1 Stop gain C358X 0.001 0.008 0 0 1 3 0 0 0 0 0 0 34 69314 chr1 11199680 11199680 G A rs138256812 MTOR Synonymous SNV I1636I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.76 69315 chr19 48258699 48258699 C T rs11538665 NOP53 Nonsynonymous SNV A383V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.9 69316 chr9 35398605 35398605 G A rs41315995 UNC13B Nonsynonymous SNV V844I 0.026 0.013 0.027 8 30 5 0.021 8 0 0 0 0 24.8 69317 chr19 52888070 52888070 - TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG ZNF880 Frameshift insertion C413Ffs*26 0.01 0.026 0.007 7 12 10 0.018 2 0 0 0 0 69318 chr19 48305104 48305104 C T rs1054612473 TPRX1 Synonymous SNV G388G 0.003 0 0 0 3 0 0 0 0 0 0 0 7.302 69319 chr1 110299729 110299729 G T EPS8L3 Nonsynonymous SNV T310N 0 0.003 0 0 0 1 0 0 0 0 0 0 23 69320 chr19 49878114 49878114 C T rs141504284 DKKL1 Synonymous SNV G155G 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 14.89 69321 chrX 48681187 48681187 G A rs61735967 HDAC6 Nonsynonymous SNV R832H 0.01 0.003 0.024 8 12 1 0.021 7 1 0 2 3 24.6 69322 chrX 48762360 48762360 G A rs782737391 SLC35A2 Nonsynonymous SNV L215F 0 0 0.007 0 0 0 0 2 0 0 1 0 Uncertain significance 5.635 69323 chr19 53668068 53668068 T C rs76512666 ZNF665 Nonsynonymous SNV I559V 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 0.001 69324 chr19 44660791 44660791 G A rs11668974 ZNF234 Nonsynonymous SNV V208M 0.041 0.042 0.034 15 48 16 0.038 10 1 0 0 0 23.7 69325 chr19 53770569 53770569 G C rs74359534 VN1R4 Nonsynonymous SNV A117G 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 6.915 69326 chr19 6586257 6586257 G A rs371201747 CD70 Nonsynonymous SNV T119M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.237 69327 chrX 50659210 50659210 - TCT rs371124071 BMP15 L263_R264insL 0.028 0.003 0.02 10 33 1 0.026 6 8 0 3 3 69328 chrX 50659280 50659280 C T rs17003221 BMP15 Synonymous SNV S284S 0.028 0.003 0.02 10 33 1 0.026 6 8 0 3 3 Benign 4.75 69329 chr1 110925550 110925550 T G rs35653868 SLC16A4 Synonymous SNV A42A 0.076 0.083 0.099 45 89 32 0.115 29 4 1 0 5 13.93 69330 chr19 53432433 53432433 T C rs201431366 ZNF816-ZNF321P Nonsynonymous SNV H142R 0.008 0.005 0 1 9 2 0.003 0 1 0 0 0 2.178 69331 chr9 36170952 36170952 C T rs45579743 CCIN Nonsynonymous SNV R485W 0.015 0.01 0.02 8 18 4 0.021 6 0 0 0 0 Benign 24.2 69332 chr19 49132657 49132657 G A SPHK2 Stop gain W495X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 69333 chr1 115215866 115215866 A G rs377325321 AMPD1 Nonsynonymous SNV Y734H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 69334 chr19 6746045 6746045 C T rs932958958 TRIP10 Synonymous SNV R330R 0.003 0.003 0 0 3 1 0 0 1 0 0 0 5.324 69335 chr19 6746076 6746076 G A rs144735071 TRIP10 Nonsynonymous SNV V341I 0.02 0.021 0.014 9 24 8 0.023 4 2 1 0 0 15.19 69336 chrX 68424753 68424753 G A rs5937177 LINC00269 0 0 0.364 0 0 0 0 107 0 0 44 0 3.83 69337 chr1 111998766 111998766 G T rs41314011 ATP5PB Synonymous SNV V94V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.06 69338 chr1 111958980 111958980 - G rs774608371 OVGP1 Frameshift insertion L374Pfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 69339 chrX 73045809 73045809 T C rs16992442 TSIX, XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 3.661 69340 chrX 73961794 73961794 G T rs41298498 NEXMIF Synonymous SNV S866S 0.006 0.01 0.017 4 7 4 0.01 5 1 0 2 2 Benign 1.09 69341 chrX 74961837 74961837 A G rs6647813 TTC3P1 0 0 0.167 0 0 0 0 49 0 0 16 0 6.192 69342 chrX 75004529 75004529 C A rs1343879 MAGEE2 Stop gain E120X 0.013 0.01 0.017 6 15 4 0.015 5 3 1 2 3 35 69343 chrX 75649060 75649060 C A rs41298484 MAGEE1 Nonsynonymous SNV T246N 0.004 0.005 0.01 4 5 2 0.01 3 1 0 1 2 12.84 69344 chrX 77245127 77245127 G A rs138039591 ATP7A Nonsynonymous SNV A337T 0.002 0 0.007 2 2 0 0.005 2 1 0 1 1 Benign/Likely benign 7.004 69345 chr19 740436 740436 G A rs149788617 PALM Nonsynonymous SNV R196Q 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 16.75 69346 chr1 114133231 114133231 A C rs778378021 MAGI3 Nonsynonymous SNV K297Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 69347 chr19 746541 746541 G A rs140781313 PALM Synonymous SNV P253P 0.023 0.021 0.02 6 27 8 0.015 6 0 0 0 0 10.81 69348 chr19 54976368 54976368 C T CDC42EP5 Nonsynonymous SNV E122K 0.003 0 0 0 4 0 0 0 1 0 0 0 23.7 69349 chr1 115142870 115142870 G A rs149711393 DENND2C Nonsynonymous SNV S630F 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 33 69350 chr19 45767997 45767997 C T rs56158216 MARK4 Synonymous SNV Y137Y 0.019 0.021 0.01 3 22 8 0.008 3 0 1 0 0 9.826 69351 chr19 45821183 45821183 T C rs11559024 CKM Nonsynonymous SNV E83G 0.01 0.013 0.014 3 12 5 0.008 4 0 0 0 0 8.415 69352 chr19 7710134 7710134 C T rs141309384 STXBP2 Nonsynonymous SNV A430V 0.02 0.021 0.027 14 23 8 0.036 8 0 0 0 1 Benign/Likely benign 15.23 69353 chr10 101645576 101645576 G A rs894921766 DNMBP Synonymous SNV H854H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.631 69354 chr19 46176156 46176156 G C GIPR Nonsynonymous SNV G74R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.47 69355 chr19 7964617 7964617 C T rs138177601 LRRC8E Nonsynonymous SNV P275S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.74 69356 chr1 117619362 117619362 G A rs139705346 TTF2 Nonsynonymous SNV R497H 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Benign 10.5 69357 chr19 49967718 49967718 A T rs147203240 ALDH16A1 Nonsynonymous SNV D408V 0.014 0.008 0 2 17 3 0.005 0 0 0 0 0 Likely benign 27.5 69358 chr19 8118000 8118000 A G rs960173 CCL25 Nonsynonymous SNV T23A 0.026 0.018 0.024 8 31 7 0.021 7 0 0 0 0 0.001 69359 chr19 46267295 46267295 G C rs182720580 BHMG1 Nonsynonymous SNV E612D 0.017 0.023 0 8 20 9 0.021 0 1 0 0 0 13.59 69360 chr1 1225725 1225725 G A rs151184625 SCNN1D Synonymous SNV P579P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.26 69361 chr9 79897155 79897155 A G rs148656796 VPS13A Nonsynonymous SNV E1028G 0.007 0.008 0.02 4 8 3 0.01 6 0 0 0 0 Conflicting interpretations of pathogenicity 17.64 69362 chr19 46274624 46274624 G A rs146680240 DMPK Nonsynonymous SNV T455M 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 22.4 69363 chr19 519350 519350 C T rs1007540799 TPGS1 Nonsynonymous SNV A267V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.29 69364 chr19 50464116 50464116 G A rs200199135 SIGLEC11 Synonymous SNV I51I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.874 69365 chr19 830820 830820 G A rs28626600 AZU1 Nonsynonymous SNV R158H 0.088 0.042 0.126 16 103 16 0.041 37 2 1 4 0 8.617 69366 chr19 50550082 50550082 C G rs780729619 ZNF473 Synonymous SNV A782A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 69367 chr1 119683231 119683231 A C rs139548132 WARS2 Nonsynonymous SNV W13G 0.012 0.018 0.02 3 14 7 0.008 6 1 1 0 0 Conflicting interpretations of pathogenicity 17.28 69368 chr1 12010469 12010469 G T rs2273285 PLOD1 Nonsynonymous SNV A120S 0.089 0.07 0.058 27 104 27 0.069 17 6 0 0 1 Benign 14.3 69369 chr10 105254437 105254437 T C rs11191713 NEURL1-AS1 0 0 0.082 0 0 0 0 24 0 0 1 0 7.166 69370 chr19 55558806 55558806 G A rs142606303 RDH13 Synonymous SNV L237L 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Benign 15.18 69371 chr1 120479948 120479948 T C rs142876168 NOTCH2 Nonsynonymous SNV H1160R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.3 69372 chr19 55591535 55591535 C T rs200919752 EPS8L1 Synonymous SNV R106R 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 10.32 69373 chr1 1219428 1219428 C T rs542791510 SCNN1D Nonsynonymous SNV T141M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.676 69374 chr1 12336806 12336806 A C rs377174939 VPS13D Nonsynonymous SNV D1054A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.653 69375 chr1 12089934 12089934 G A rs370000251 MIIP Synonymous SNV A276A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.83 69376 chr1 12343492 12343492 G A rs775151374 VPS13D Nonsynonymous SNV S1778N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.73 69377 chr9 98638306 98638306 C T rs56108623 ERCC6L2 Nonsynonymous SNV P7S 0.059 0.073 0.088 18 69 28 0.046 26 5 2 2 0 18.73 69378 chr9 98775459 98775459 G A rs10512243 ERCC6L2 Nonsynonymous SNV A1554T 0.059 0.07 0.075 13 69 27 0.033 22 5 2 2 0 8.094 69379 chr10 112583294 112583294 G A rs116908219 RBM20 Nonsynonymous SNV E1125K 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 69380 chr19 48305491 48305502 GATTGGGCCTGG - rs778181200 TPRX1 P256_I259del 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 69381 chr19 55815159 55815159 C A rs17851415 BRSK1 Synonymous SNV T417T 0.054 0.047 0.054 15 63 18 0.038 16 0 0 1 0 19.13 69382 chr9 101006338 101006338 A T rs61752516 TBC1D2 Synonymous SNV A195A 0.011 0.01 0.048 8 13 4 0.021 14 0 0 1 0 1.526 69383 chr1 145584803 145584803 A C rs375784174 PIAS3 Nonsynonymous SNV L529F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.8 69384 chr19 5595423 5595423 C T rs746041393 SAFB2 Nonsynonymous SNV R623K 0.003 0 0 3 4 0 0.008 0 0 0 0 0 25.2 69385 chr19 56012117 56012117 G A rs141307342 SSC5D Nonsynonymous SNV A855T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.14 69386 chr19 56671447 56671447 C T rs79199638 ZNF444 Synonymous SNV F286F 0.015 0.018 0.034 12 18 7 0.031 10 1 0 0 0 18.41 69387 chr1 147380779 147380779 C T rs140512440 GJA8 Nonsynonymous SNV R233W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 28.7 69388 chr10 11653772 11653772 - GCGGCCCCGG rs145486773 LOC107984208 0 0 0.078 0 0 0 0 23 0 0 2 0 69389 chr1 150255718 150255718 C T rs138047846 CIART Nonsynonymous SNV S14F 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 12.45 69390 chr19 53572887 53572887 T C rs61732582 ZNF160 Synonymous SNV L300L 0.017 0.013 0.01 1 20 5 0.003 3 0 0 0 0 0.12 69391 chr10 117226713 117226713 T C rs17093114 ATRNL1 Synonymous SNV N1149N 0.022 0.029 0.02 10 26 11 0.026 6 0 0 0 0 6.128 69392 chr1 150525554 150525554 C T rs757643403 ADAMTSL4 Nonsynonymous SNV R87W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 69393 chr1 151491836 151491836 C T rs140720174 CGN Nonsynonymous SNV R281W 0.003 0.003 0.014 3 3 1 0.008 4 0 0 0 0 26.1 69394 chr1 150526270 150526270 C T rs41317517 ADAMTSL4 Nonsynonymous SNV S268F 0.01 0.013 0.01 0 12 5 0 3 0 0 0 0 Benign 1.978 69395 chr19 52537334 52537334 C T rs117633649 ZNF432 Nonsynonymous SNV R533Q 0.009 0.008 0.014 1 10 3 0.003 4 0 0 0 0 Benign 32 69396 chr19 57066630 57066630 G C ZFP28 Nonsynonymous SNV A826P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.4 69397 chr19 9057177 9057177 G T rs185322740 MUC16 Nonsynonymous SNV T10090N 0.009 0.008 0.007 6 10 3 0.015 2 0 0 0 0 0.217 69398 chr10 118424272 118424272 T C C10orf82 Nonsynonymous SNV E154G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 69399 chr1 152084694 152084696 CTC - rs574276899 TCHH E333del 0.011 0.003 0.003 4 13 1 0.01 1 0 0 0 0 69400 chr10 118630670 118630670 G A rs779206215 ENO4 Nonsynonymous SNV C361Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 69401 chr19 53740849 53740849 A G rs147088386 ZNF677 Synonymous SNV C377C 0.024 0.013 0.027 6 28 5 0.015 8 0 0 0 0 7.398 69402 chr1 151341570 151341570 C T rs41284998 SELENBP1 Synonymous SNV S132S 0.009 0.016 0.027 5 10 6 0.013 8 0 0 0 0 16.81 69403 chr19 52919624 52919624 A T rs146381631 ZNF528 Nonsynonymous SNV N507Y 0.008 0.016 0.01 1 9 6 0.003 3 0 0 0 0 Benign 0.005 69404 chr9 111617413 111617413 G C rs116020916 ACTL7B Synonymous SNV P266P 0.009 0.013 0.003 1 10 5 0.003 1 0 0 0 0 0.014 69405 chr10 12123525 12123525 C G rs34644609 DHTKD1 Nonsynonymous SNV A70G 0.006 0.003 0.02 3 7 1 0.008 6 0 0 0 0 Conflicting interpretations of pathogenicity 10.57 69406 chr10 12149924 12149924 C T DHTKD1 Synonymous SNV L688L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 69407 chr10 121586387 121586387 G A rs768499612 INPP5F Nonsynonymous SNV E222K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 69408 chr10 121598173 121598173 A G rs12772291 MCMBP Synonymous SNV L428L 0.025 0.034 0.027 12 29 13 0.031 8 1 1 1 0 7.272 69409 chr1 152326732 152326734 GTG - rs768555225 FLG2 T1177del 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 69410 chr19 54573296 54573296 A G TARM1 Synonymous SNV N259N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 69411 chr9 113252011 113252011 T C rs74597491 SVEP1 Nonsynonymous SNV I617V 0.055 0.044 0.065 12 64 17 0.031 19 3 0 2 0 25.6 69412 chr19 56719498 56719498 C A rs77492865 ZSCAN5C Nonsynonymous SNV D228E 0.008 0 0.014 0 9 0 0 4 0 0 0 0 14.59 69413 chr1 154072601 154072601 G A rs139838869 NUP210L Nonsynonymous SNV P613L 0.012 0.023 0.01 5 14 9 0.013 3 0 0 0 0 15.16 69414 chr1 152882982 152882982 - AGCAGCAGGAGGGGCAGCTGGAGCTCTCTG rs758373475 IVL L263_K264insELSEQQEGQL 0.034 0.044 0.058 19 40 17 0.049 17 16 7 8 7 69415 chr1 15438831 15438831 - TG TMEM51-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 69416 chr19 50119416 50119416 G A rs575045686 PRR12 Nonsynonymous SNV G1813R 0 0 0 3 0 0 0.008 0 0 0 0 0 22.8 69417 chr19 57640333 57640333 T C rs142418737 USP29 Nonsynonymous SNV M97T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 69418 chr1 154709540 154709540 A C rs112506792 KCNN3 Synonymous SNV S491S 0.014 0.016 0.02 4 16 6 0.01 6 0 0 0 0 1.841 69419 chr10 125780886 125780886 G A rs139630938 CHST15 Synonymous SNV S411S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 15.17 69420 chr19 9204617 9204617 G A rs541667979 OR1M1 Nonsynonymous SNV G233S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 69421 chr9 116136155 116136155 G A rs17765613 HDHD3 Synonymous SNV S160S 0.029 0.023 0.014 8 34 9 0.021 4 0 1 0 0 6.487 69422 chr1 155160941 155160941 C T rs11465205 MUC1 Nonsynonymous SNV G407S 0.02 0.021 0 7 23 8 0.018 0 0 0 0 0 0.351 69423 chr1 153914453 153914453 C T rs757284732 DENND4B Nonsynonymous SNV R327H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 69424 chr19 9225982 9225982 G A rs762391223 OR7G1 Nonsynonymous SNV T153I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 69425 chr19 58850357 58850357 G A rs138944686 ZSCAN22 Nonsynonymous SNV E381K 0.013 0.01 0.017 3 15 4 0.008 5 0 0 0 0 13.51 69426 chr19 50902196 50902196 C T rs3218772 POLD1 Nonsynonymous SNV R30W 0.014 0.013 0 4 16 5 0.01 0 0 0 0 0 Benign 15.6 69427 chr19 9452868 9452868 G A rs16979666 ZNF559 Synonymous SNV G311G 0.018 0.026 0.01 8 21 10 0.021 3 1 1 0 0 2.507 69428 chr19 9452879 9452879 C A rs16979670 ZNF559 Nonsynonymous SNV T315N 0.018 0.026 0.01 8 21 10 0.021 3 1 1 0 0 0.023 69429 chr19 9490760 9490760 A G rs2230750 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV D94G 0.018 0.026 0.01 8 21 10 0.021 3 1 1 0 0 13.61 69430 chr19 9524272 9524272 T C rs75717316 ZNF266 Synonymous SNV K443K 0.018 0.026 0.01 8 21 10 0.021 3 1 1 0 0 4.945 69431 chr19 9524715 9524715 A G rs78504948 ZNF266 Nonsynonymous SNV Y296H 0.018 0.026 0.01 8 21 10 0.021 3 1 1 0 0 22.3 69432 chr19 55593654 55593654 C T rs147655355 EPS8L1 Synonymous SNV R207R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 69433 chr19 9677523 9677523 T G rs200893734 ZNF121 Nonsynonymous SNV E89A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.02 69434 chr1 154995920 154995920 G A rs72702247 DCST2 Synonymous SNV L628L 0.014 0.021 0.014 6 16 8 0.015 4 0 0 0 0 10.25 69435 chr10 133607892 133607892 T C rs4897739 LINC01164 0 0 0.296 0 0 0 0 87 0 0 30 0 0.672 69436 chr10 133608495 133608495 A T rs4897744 LINC01164 0 0 0.265 0 0 0 0 78 0 0 27 0 1.2 69437 chr1 155922567 155922567 G A rs142129169 ARHGEF2 Synonymous SNV V612V 0.001 0.01 0 4 1 4 0.01 0 0 0 0 0 9.983 69438 chr10 134942208 134942208 C T rs780718839 ADGRA1 Synonymous SNV G195G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.912 69439 chr19 7566069 7566069 G A rs139801882 TEX45 Nonsynonymous SNV A121T 0.026 0.026 0.031 18 31 10 0.046 9 0 0 1 0 4.866 69440 chr19 56203229 56203229 C T rs199806653 EPN1 Nonsynonymous SNV P266L 0.009 0.005 0.003 7 11 2 0.018 1 0 0 0 1 23.8 69441 chr19 52207561 52207561 G T rs112367898 SPACA6 Nonsynonymous SNV A257S 0.003 0.016 0.003 4 4 6 0.01 1 0 0 0 0 7.751 69442 chr19 52207581 52207581 G T rs113885698 SPACA6 Synonymous SNV L263L 0.003 0.016 0.003 4 4 6 0.01 1 0 0 0 0 11.76 69443 chr19 7687730 7687730 T C rs35275272 XAB2 Nonsynonymous SNV D430G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 69444 chr1 156882757 156882757 C G rs41299597 PEAR1 Nonsynonymous SNV S802C 0.016 0.031 0.003 4 19 12 0.01 1 0 0 0 0 23.4 69445 chr9 125895238 125895238 C T rs79286922 STRBP Nonsynonymous SNV V581I 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 22.1 69446 chr19 52570586 52570586 C T rs61742061 ZNF841 Synonymous SNV Q67Q 0.009 0.018 0.014 5 10 7 0.013 4 0 0 0 0 2.569 69447 chr10 14816378 14816378 G C rs144131218 FAM107B Nonsynonymous SNV H95Q 0.018 0.018 0.017 7 21 7 0.018 5 0 0 0 0 0.044 69448 chr19 680375 680375 C G FSTL3 Nonsynonymous SNV R131G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 69449 chr10 14816448 14816448 G A rs11259332 FAM107B Nonsynonymous SNV A72V 0.009 0.013 0.02 5 11 5 0.013 6 0 0 0 0 10.26 69450 chr19 804079 804079 T C rs351981 PTBP1 Synonymous SNV S53S 0.056 0.034 0.088 19 66 13 0.049 26 0 1 2 0 0.023 69451 chr19 806451 806451 C T rs11549887 PTBP1 Synonymous SNV A312A 0.026 0.016 0.054 6 30 6 0.015 16 0 0 1 0 8.746 69452 chr19 814907 814907 A G rs1540615 PLPPR3 Nonsynonymous SNV I193T 0.053 0.031 0.082 13 62 12 0.033 24 0 1 2 0 13.09 69453 chr9 127570063 127570063 G C rs145171251 OLFML2A Nonsynonymous SNV R177T 0.004 0 0 0 5 0 0 0 0 0 0 0 10.92 69454 chr19 56307553 56307553 G A rs114591455 NLRP11 Synonymous SNV G646G 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 7.56 69455 chr1 1597403 1597403 C T rs114859950 SLC35E2B Nonsynonymous SNV G346S 0.007 0.008 0.003 10 8 3 0.026 1 0 0 0 0 23 69456 chr19 57035826 57035826 - G ZNF471 Frameshift insertion F57Vfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 69457 chr19 57035827 57035827 T G ZNF471 Nonsynonymous SNV F57V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 69458 chr9 130475020 130475020 C T rs553511710 CFAP157 Synonymous SNV D390D 0.003 0 0 0 3 0 0 0 0 0 0 0 9.865 69459 chr9 130476443 130476443 C T rs147912974 PTRH1 Nonsynonymous SNV E179K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.83 69460 chr19 757234 757234 C T rs34384654 MISP Synonymous SNV R96R 0.004 0 0.014 2 5 0 0.005 4 0 0 0 0 9.202 69461 chr9 130511539 130511539 C A rs142059103 SH2D3C Nonsynonymous SNV D206Y 0.003 0 0 0 3 0 0 0 0 0 0 0 29 69462 chr19 53409766 53409766 C A rs61741954 ZNF888 Nonsynonymous SNV E603D 0.013 0.018 0 9 15 7 0.023 0 0 0 0 0 11.7 69463 chr19 8038679 8038679 C T rs45483997 ELAVL1 Synonymous SNV K120K 0.024 0.021 0.037 10 28 8 0.026 11 0 0 0 1 16.12 69464 chr1 113052018 113052018 T C rs755964469 WNT2B Nonsynonymous SNV L45P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 69465 chr19 53740478 53740478 T C rs141706602 ZNF677 Nonsynonymous SNV N501S 0.006 0.016 0.003 4 7 6 0.01 1 0 0 0 0 0.004 69466 chr1 167654670 167654670 A G rs35632798 RCSD1 Nonsynonymous SNV K41E 0.008 0.01 0.01 5 9 4 0.013 3 0 1 0 0 26.3 69467 chr9 132569532 132569532 C T rs16936946 TOR1B Synonymous SNV D177D 0.024 0.031 0.007 4 28 12 0.01 2 1 0 0 0 Benign 17.84 69468 chr1 115403368 115403368 C T rs150451249 SYCP1 Nonsynonymous SNV T179I 0.01 0.005 0.003 7 12 2 0.018 1 0 0 0 0 Benign 25.2 69469 chr10 29756459 29756459 C G rs3740005 SVIL-AS1 0 0 0.133 0 0 0 0 39 0 0 11 0 0.508 69470 chr19 54600273 54600273 T C OSCAR Synonymous SNV A72A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 5.117 69471 chr10 29833998 29833998 A G rs2368393 MIR604 0 0 0.167 0 0 0 0 49 0 0 7 0 5.035 69472 chr1 159558150 159558150 G A rs28383572 APCS Synonymous SNV P108P 0.026 0.039 0.037 5 30 15 0.013 11 0 0 0 0 4.868 69473 chr10 29834003 29834003 G A rs2368392 MIR604 0 0 0.167 0 0 0 0 49 0 0 7 0 2.572 69474 chr19 577782 577782 G T rs144824657 BSG Nonsynonymous SNV V26F 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 22 69475 chr1 15957025 15957025 C G rs141031535 DDI2 Synonymous SNV P158P 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 10.24 69476 chr1 169511403 169511403 G A rs41272457 F5 Synonymous SNV P975P 0.014 0.018 0.003 8 17 7 0.021 1 0 0 0 0 Benign/Likely benign 1.005 69477 chr1 159899462 159899462 C A rs185161099 IGSF9 Nonsynonymous SNV R764S 0.01 0.018 0.02 3 12 7 0.008 6 0 0 0 0 28.8 69478 chr1 117122144 117122144 C A rs61730484 IGSF3 Synonymous SNV L1068L 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 15.55 69479 chr10 30317417 30317417 T C rs201339774 JCAD Nonsynonymous SNV T554A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 9.937 69480 chr19 5785449 5785449 C T rs12977803 DUS3L Nonsynonymous SNV D367N 0.008 0.01 0.01 1 9 4 0.003 3 0 0 0 0 17.55 69481 chr10 30660047 30660047 - A rs147416586 GOLGA2P6 0 0 0.037 0 0 0 0 11 0 0 2 0 69482 chr1 160389176 160389176 G T rs770440603 VANGL2 Nonsynonymous SNV V193L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.12 69483 chr1 167407858 167407858 G A rs33937946 CD247 Synonymous SNV Y83Y 0.058 0.073 0.095 20 68 28 0.051 28 3 0 2 0 Benign 10.85 69484 chr19 9019313 9019313 C G rs796118737 MUC16 Nonsynonymous SNV G12525A 0.038 0.029 0.003 13 45 11 0.033 1 0 0 0 0 0.719 69485 chr10 33469286 33469286 C T rs2229936 NRP1 Synonymous SNV T813T 0.014 0.016 0.041 6 17 6 0.015 12 1 0 0 0 10.42 69486 chr1 161018207 161018207 C T rs11587603 ARHGAP30 Synonymous SNV A691A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.54 69487 chr19 58629741 58629741 G C rs985617671 ZSCAN18 Nonsynonymous SNV A8G 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.95 69488 chr1 171072971 171072971 T G rs369143287 FMO3 Nonsynonymous SNV S60A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.6 69489 chr1 161275729 161275729 G A rs34307129 MPZ Synonymous SNV S228S 0.037 0.036 0.01 3 43 14 0.008 3 1 0 0 0 Benign/Likely benign 9.766 69490 chr1 170136876 170136876 T C rs144066772 METTL11B Nonsynonymous SNV L277P 0.02 0.016 0.017 8 24 6 0.021 5 0 0 0 0 26.1 69491 chr19 8969344 8969344 A G rs62118938 MUC16 Nonsynonymous SNV Y14334H 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 22.4 69492 chr9 135537982 135537982 A T rs142850420 DDX31 Nonsynonymous SNV V164D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.416 69493 chr19 58988764 58988764 A T rs745917976 ZNF446 Nonsynonymous SNV H60L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 12.79 69494 chr9 135976940 135976940 G A rs150606269 RALGDS Synonymous SNV D752D 0.012 0.005 0.017 2 14 2 0.005 5 0 0 0 0 13.75 69495 chr10 46970796 46970796 G A rs112001859 LOC102724488 Nonsynonymous SNV S6L 0.005 0.016 0.01 3 6 6 0.008 3 0 0 0 0 7.839 69496 chr19 622830 622830 C G rs138594532 POLRMT Nonsynonymous SNV M482I 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 69497 chr19 55549590 55549590 C T rs28385642 GP6 Synonymous SNV P5P 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign 15.15 69498 chr19 6307246 6307246 C T rs147053887 ACER1 Nonsynonymous SNV V182I 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.002 69499 chr1 120054192 120054192 G T rs4986952 HSD3B1 Nonsynonymous SNV R71I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 69500 chr19 55568144 55568144 C A rs770090230 RDH13 Stop gain E73X 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 38 69501 chr9 136501569 136501569 G A rs76856960 DBH Nonsynonymous SNV V26M 0.014 0.01 0.007 5 17 4 0.013 2 0 0 0 0 Benign 24.9 69502 chr1 120345596 120345596 G A rs12739869 REG4 Nonsynonymous SNV P87L 0.007 0.013 0.014 8 8 5 0.021 4 0 0 0 0 5.134 69503 chr1 173842630 173842630 C A rs143211330 ZBTB37 Nonsynonymous SNV P317T 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 11.84 69504 chr1 16459745 16459745 G A rs10907223 EPHA2 Synonymous SNV L607L 0.054 0.049 0.048 22 63 19 0.056 14 1 1 0 2 Benign 7.354 69505 chr1 17413152 17413152 C T rs61749340 PADI2 Nonsynonymous SNV R233Q 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Likely benign 16.45 69506 chr9 136582482 136582482 C A rs35218200 SARDH Nonsynonymous SNV E372D 0.052 0.034 0.031 12 61 13 0.031 9 2 0 0 0 17.58 69507 chr9 136913527 136913527 G A rs140391716 BRD3 Nonsynonymous SNV A255V 0.009 0.008 0.017 2 10 3 0.005 5 0 0 0 0 13.28 69508 chr1 173604681 173604681 G A rs560265327 TEX50 Synonymous SNV P7P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.353 69509 chr9 137801866 137801866 G T FCN1 Nonsynonymous SNV N253K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 69510 chr1 17531806 17531806 T G rs140034080 PADI1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 69511 chr19 55871055 55871055 G A rs557543646 FAM71E2 Nonsynonymous SNV P394L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.151 69512 chr19 55871208 55871208 T A FAM71E2 Nonsynonymous SNV D343V 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 22.5 69513 chr19 7706954 7706954 G A rs144586070 STXBP2 Nonsynonymous SNV V202I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.44 69514 chr1 1326874 1326874 G A CCNL2 Synonymous SNV S23S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.762 69515 chr19 7527195 7527195 A G rs45567132 ARHGEF18 Synonymous SNV L628L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 8.297 69516 chr1 169511585 169511585 T A rs9332695 F5 Nonsynonymous SNV T915S 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 Benign/Likely benign 2.723 69517 chr19 7912630 7912630 C G rs371567316 EVI5L Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 69518 chr10 50950891 50950891 C T rs147924096 OGDHL Synonymous SNV V456V 0.005 0.005 0.01 5 6 2 0.013 3 0 0 1 0 Benign 14.16 69519 chr1 169824041 169824041 C T rs114153194 SCYL3 Synonymous SNV S459S 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 9.145 69520 chr10 5197881 5197881 A G rs1781931 AKR1C8P 0 0 0.303 0 0 0 0 89 0 0 15 0 4.321 69521 chr9 139371002 139371002 C T rs768354427 SEC16A Nonsynonymous SNV G356R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.647 69522 chr1 179460806 179460806 C T rs17369441 AXDND1 Nonsynonymous SNV A742V 0.051 0.057 0.065 15 60 22 0.038 19 1 0 0 0 13.92 69523 chr1 179562707 179562707 G A rs12070589 TDRD5 Synonymous SNV P115P 0.061 0.06 0.061 16 72 23 0.041 18 1 1 0 0 2.446 69524 chr1 149939247 149939247 C T rs71622670 OTUD7B Synonymous SNV Q158Q 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 12.13 69525 chr1 100349757 100349757 A G rs149210307 AGL Nonsynonymous SNV N797S 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 69526 chr10 5541277 5541277 T C rs144222183 CALML5 Nonsynonymous SNV K42R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.16 69527 chr9 139686439 139686439 G C rs116891320 TMEM141 Nonsynonymous SNV R54S 0.014 0.003 0.007 4 16 1 0.01 2 0 0 0 0 23.1 69528 chr1 181759638 181759638 G A rs34741608 CACNA1E Synonymous SNV Q1929Q 0.007 0.016 0.024 3 8 6 0.008 7 0 0 0 0 8.522 69529 chr9 139734792 139734794 AAG - rs562074594 RABL6 K673del 0.004 0 0 0 5 0 0 0 0 0 0 0 69530 chr1 180235728 180235728 C T rs16855642 LHX4 Synonymous SNV N150N 0.026 0.01 0.007 6 30 4 0.015 2 0 0 0 0 Benign 11.94 69531 chr10 60577396 60577396 A G rs62625030 BICC1 Nonsynonymous SNV N870D 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Likely benign 14.37 69532 chr19 56733374 56733374 G A rs61736533 ZSCAN5A Nonsynonymous SNV P237L 0.017 0.003 0.01 2 20 1 0.005 3 1 0 0 0 1.397 69533 chr10 61819543 61819543 C A rs139092048 ANK3 Nonsynonymous SNV D794Y 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 14.51 69534 chr10 61831502 61831502 G C rs74153183 ANK3 Nonsynonymous SNV T3046S 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Likely benign 3.061 69535 chr19 8962389 8962389 G A rs72999925 MUC16 Nonsynonymous SNV S14437F 0.015 0.01 0.007 4 18 4 0.01 2 0 0 0 0 23.5 69536 chr10 6268296 6268296 C A rs61731874 PFKFB3 Nonsynonymous SNV P475T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 69537 chr10 63212954 63212954 T C rs11817778 TMEM26-AS1 0 0 0.177 0 0 0 0 52 0 0 13 0 7.383 69538 chr19 9868354 9868354 T C ZNF846 Nonsynonymous SNV M338V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 69539 chr9 139934272 139934272 T G rs533653826 NPDC1 Synonymous SNV A310A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.155 69540 chr1 182458143 182458143 A T RGSL1 Nonsynonymous SNV Q508L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.432 69541 chr1 175331824 175331824 C T rs191352713 TNR Synonymous SNV E610E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.09 69542 chr1 100587968 100587968 T C rs145407568 SASS6 Synonymous SNV Q93Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.714 69543 chr10 65225899 65225899 - GGCGGC rs3841602 JMJD1C-AS1 0 0 0.255 0 0 0 0 75 0 0 27 0 69544 chr10 65225931 65225931 A G rs112401830 JMJD1C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.129 69545 chr9 140130863 140130863 T C rs74842953 SLC34A3 Synonymous SNV L599L 0.014 0.008 0.003 0 17 3 0 1 0 0 0 0 0.019 69546 chr1 100736221 100736221 C T rs77300480 RTCA Synonymous SNV I133I 0.02 0.013 0 11 23 5 0.028 0 1 0 0 0 10.37 69547 chr9 140140117 140140117 G A rs114429903 FAM166A Nonsynonymous SNV T82M 0.026 0.021 0.024 9 31 8 0.023 7 1 0 0 1 0.001 69548 chr1 184702072 184702072 A G rs751651222 EDEM3 Nonsynonymous SNV Y171H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.075 69549 chr1 185191034 185191034 G A rs760056155 SWT1 Synonymous SNV Q725Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.162 69550 chr1 186072648 186072648 G A rs140493567 HMCN1 Nonsynonymous SNV V3540I 0.009 0.003 0.01 4 11 1 0.01 3 0 0 0 0 Likely benign 25.4 69551 chr1 11090287 11090287 C A MASP2 Nonsynonymous SNV D415Y 0.004 0 0 0 5 0 0 0 0 0 0 0 28.7 69552 chr1 186092181 186092181 A G rs577267279 HMCN1 Nonsynonymous SNV I4110V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.067 69553 chr19 9019610 9019610 G A rs751025649 MUC16 Synonymous SNV P12512P 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 1.932 69554 chr1 17934347 17934347 C A rs145133878 ARHGEF10L Synonymous SNV R162R 0.023 0.021 0.024 13 27 8 0.033 7 0 0 0 0 16.45 69555 chr1 179562792 179562792 G A rs77758448 TDRD5 Nonsynonymous SNV A144T 0.023 0.016 0.017 3 27 6 0.008 5 0 0 0 0 15.93 69556 chr1 179659879 179659879 G A rs748050482 TDRD5 Nonsynonymous SNV R471H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 69557 chr1 1873593 1873593 G A rs763705877 CFAP74 Nonsynonymous SNV S830L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 69558 chr1 109839430 109839430 C T rs367617695 MYBPHL Synonymous SNV T235T 0.003 0 0 0 4 0 0 0 0 0 0 0 12.34 69559 chr1 11009679 11009679 G A rs1281013 C1orf127 0.029 0.016 0.003 9 34 6 0.023 1 1 0 0 0 0.704 69560 chr1 11009703 11009703 C T rs1281012 C1orf127 Nonsynonymous SNV R284Q 0.031 0.026 0.02 14 36 10 0.036 6 1 0 0 0 2.792 69561 chr1 112045632 112045632 G A rs76934313 ADORA3, TMIGD3 Synonymous SNV T115T 0.01 0.008 0 7 12 3 0.018 0 0 0 0 0 13.12 69562 chr19 9068374 9068374 A G rs61732552 MUC16 Nonsynonymous SNV S6358P 0.037 0.031 0.031 8 44 12 0.021 9 1 0 0 0 0.002 69563 chr1 196927159 196927159 - A rs779257906 CFHR2 Frameshift insertion T67Nfs*3 0.003 0.003 0 0 3 1 0 0 0 0 0 0 69564 chr1 1132963 1132963 G A rs764768183 TTLL10 Synonymous SNV P586P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.136 69565 chr10 73892817 73892817 T C rs146370051 ASCC1 Nonsynonymous SNV N272S 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 Benign/Likely benign 4.711 69566 chr10 74884077 74884077 C T rs200833463 NUDT13 Nonsynonymous SNV T155M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 69567 chr19 9082456 9082456 G T rs183524392 MUC16 Nonsynonymous SNV T3120N 0.034 0.023 0.048 14 40 9 0.036 14 1 0 0 0 0.056 69568 chr1 155706776 155706776 G A rs41264967 DAP3 Nonsynonymous SNV V311I 0.009 0.013 0.01 0 11 5 0 3 1 0 0 0 24.6 69569 chr10 75000737 75000742 GCGGAG - rs370826262 FAM149B1 G571_G572del 0.009 0.005 0.02 2 10 2 0.005 6 0 0 0 0 69570 chr10 75000748 75000756 CCAGTCTCT - rs374706386 FAM149B1 P574_S576del 0.009 0.005 0.02 2 10 2 0.005 6 0 0 0 0 69571 chr10 75185582 75185582 C T rs61995708 MSS51 Synonymous SNV A352A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.14 69572 chr10 75188033 75188033 G A rs143714645 MSS51 Nonsynonymous SNV R4W 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 25.1 69573 chr10 75671162 75671162 G T rs1916341 C10orf55 0 0 0.378 0 0 0 0 111 0 0 44 0 7.504 69574 chr1 11102940 11102940 G A rs139962539 MASP2 Nonsynonymous SNV T294M 0.007 0.013 0.003 2 8 5 0.005 1 0 0 0 0 Benign 14.99 69575 chr10 75675091 75675091 C T rs558920700 PLAU Synonymous SNV Y334Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.52 69576 chr1 183072733 183072733 G A LAMC1 Nonsynonymous SNV S230N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 69577 chr1 20005822 20005822 C T rs8192534 HTR6 Synonymous SNV P428P 0.014 0.01 0.003 3 16 4 0.008 1 0 0 0 0 12.26 69578 chr1 200586765 200586765 C T rs77828651 KIF14 Nonsynonymous SNV V363I 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 69579 chr1 20067299 20067299 T C rs147635887 TMCO4 Nonsynonymous SNV Q338R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.8 69580 chr10 7605243 7605243 C T rs138658798 ITIH5 Nonsynonymous SNV V664I 0.004 0.01 0.014 1 5 4 0.003 4 0 0 0 0 0.027 69581 chr1 111783981 111783981 G A rs7542034 CHI3L2 Synonymous SNV T307T 0.009 0.005 0.024 1 10 2 0.003 7 0 0 0 0 6.434 69582 chr1 200818980 200818980 C G rs6674599 CAMSAP2 Nonsynonymous SNV P1012R 0.017 0.013 0.01 4 20 5 0.01 3 0 0 0 0 Benign 23.2 69583 chr1 183532364 183532364 T A rs35012521 NCF2 Nonsynonymous SNV N338I 0.012 0.008 0.003 3 14 3 0.008 1 0 0 0 0 Benign/Likely benign 28.4 69584 chr1 156206155 156206155 C T rs140410413 PMF1, PMF1-BGLAP Nonsynonymous SNV R80W 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 12.94 69585 chr1 115829178 115829178 C T rs11466111 NGF Nonsynonymous SNV R80Q 0.016 0.01 0.007 3 19 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 32 69586 chr1 200842641 200842641 C T rs144298915 GPR25 Nonsynonymous SNV S159L 0.025 0.023 0.017 4 29 9 0.01 5 0 0 0 0 22.6 69587 chr10 79556301 79556301 A G rs74140333 DLG5 Nonsynonymous SNV L1739P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 21.6 69588 chr10 79556305 79556305 C T rs74140334 DLG5 Nonsynonymous SNV A1738T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.42 69589 chr1 184765000 184765000 G A rs12750174 NIBAN1 Nonsynonymous SNV S633L 0.009 0.016 0.02 3 10 6 0.008 6 1 0 0 0 11.63 69590 chr19 621063 621063 A G rs76890343 POLRMT Synonymous SNV L879L 0.042 0.047 0.082 13 49 18 0.033 24 2 2 3 1 0.036 69591 chr19 621070 621070 G A rs77809401 POLRMT Synonymous SNV D876D 0.038 0.042 0.078 13 45 16 0.033 23 1 2 3 1 0.139 69592 chr1 117576522 117576522 A T rs34223095 CD101 Nonsynonymous SNV L955F 0.055 0.044 0.068 25 65 17 0.064 20 2 0 1 1 0.158 69593 chr1 201178819 201178926 GCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAATAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAAGAAATGGGGTCAGTGAATAAG - IGFN1 V1608_G1643del 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 69594 chr10 81679949 81679949 G A rs45558131 MBL1P 0 0 0.15 0 0 0 0 44 0 0 5 0 2.03 69595 chr19 6685125 6685125 T C C3 Synonymous SNV Q1281Q 0 0.003 0 7 0 1 0.018 0 0 0 0 1 3.166 69596 chr1 156721885 156721885 C T rs553808858 HDGF Nonsynonymous SNV R4K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.752 69597 chr10 13702422 13702422 G A rs767134995 FRMD4A Nonsynonymous SNV R289C 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 69598 chr1 115167939 115167939 A G rs61481107 DENND2C Nonsynonymous SNV S223P 0.014 0.008 0.017 8 17 3 0.021 5 0 0 0 0 17.09 69599 chr10 14943176 14943176 C G rs61730323 SUV39H2 Synonymous SNV L287L 0.041 0.044 0.054 13 48 17 0.033 16 0 2 0 0 13.16 69600 chr1 115218549 115218549 C T rs80266556 AMPD1 Synonymous SNV E517E 0.014 0.008 0.017 8 17 3 0.021 5 0 0 0 0 Benign 12.98 69601 chr19 6906469 6906469 T C rs78491083 ADGRE1 Synonymous SNV D184D 0.006 0.01 0 9 7 4 0.023 0 0 0 0 1 0.016 69602 chr10 86001149 86001149 G T rs768222670 LRIT1 Nonsynonymous SNV P16H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 69603 chr1 101339977 101339977 C T rs184097400 EXTL2 Nonsynonymous SNV D172N 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 32 69604 chr1 1026913 1026913 C T rs115662838 C1orf159 Nonsynonymous SNV R4Q 0.026 0.013 0.007 4 31 5 0.01 2 1 0 0 0 0.002 69605 chr1 158548755 158548755 T C rs373159442 OR10X1 Nonsynonymous SNV N312S 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 0.002 69606 chr1 1226292 1226292 G A rs2273276 SCNN1D Synonymous SNV T645T 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 7.55 69607 chr10 89621905 89621906 CT - rs749052307 KLLN A115Sfs*58 0.003 0 0.003 0 4 0 0 1 0 0 0 0 69608 chr1 203053663 203053663 A G rs11807924 MYOPARR 0.013 0.013 0.02 2 15 5 0.005 6 0 0 0 0 4.248 69609 chr1 12337667 12337667 C T rs12407578 VPS13D Nonsynonymous SNV S1341L 0.014 0.01 0.007 6 17 4 0.015 2 0 0 0 0 28.8 69610 chr1 203054727 203054727 G T rs138462164 MYOG Synonymous SNV I121I 0.011 0.008 0.02 4 13 3 0.01 6 0 0 0 0 Benign 3.2 69611 chr1 103470191 103470191 T C rs111841420 COL11A1 Synonymous SNV P508P 0.026 0.031 0.017 9 31 12 0.023 5 1 1 0 0 Benign/Likely benign 10.37 69612 chr1 197070387 197070387 C T rs766267818 ASPM Nonsynonymous SNV R2665H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 69613 chr10 90984862 90984862 T C rs145163592 LIPA Nonsynonymous SNV D105G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 69614 chr1 109477406 109477406 C T rs150029224 CLCC1 Synonymous SNV K329K 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 12.77 69615 chr1 109704525 109704525 C T rs74920406 KIAA1324 Nonsynonymous SNV H55Y 0.032 0.034 0.024 7 38 13 0.018 7 0 0 0 0 24.5 69616 chr1 107600428 107600430 AGG - rs757628616 PRMT6 E366del 0.002 0 0.007 0 2 0 0 2 0 0 0 0 69617 chr10 93999976 93999976 G A rs754957367 CPEB3 Synonymous SNV T44T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.839 69618 chr1 204943362 204943362 C T rs147248519 NFASC Synonymous SNV Y456Y 0.024 0.016 0.02 13 28 6 0.033 6 0 0 0 0 11.51 69619 chr10 22680687 22680687 A G rs139051131 SPAG6 Synonymous SNV S323S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 9.153 69620 chr10 95422842 95422842 A C rs1051926 PDE6C Synonymous SNV R809R 0.003 0.003 0.01 6 4 1 0.015 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.017 69621 chr10 23609670 23609670 C T rs756784171 C10orf67 Synonymous SNV Q183Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.834 69622 chr1 159750990 159750990 C G rs199665962 DUSP23 Nonsynonymous SNV L34V 0.005 0.008 0 0 6 3 0 0 0 0 0 0 10.84 69623 chr1 109806933 109806933 C T rs113593332 CELSR2 Synonymous SNV G1745G 0.011 0.005 0 1 13 2 0.003 0 0 0 0 0 Benign 9.773 69624 chr1 109808423 109808423 T G rs138787753 CELSR2 Nonsynonymous SNV L1932V 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 Likely benign 10.54 69625 chr1 145542255 145542255 A G rs75496347 ITGA10 Nonsynonymous SNV R1018G 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 17.07 69626 chr1 160012270 160012270 C T rs115466046 KCNJ10 Nonsynonymous SNV R18Q 0.023 0.023 0.014 13 27 9 0.033 4 1 0 0 0 Benign/Likely benign 22.6 69627 chr1 205631084 205631084 C T rs150525587 SLC45A3 Nonsynonymous SNV V377M 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 13.7 69628 chr1 205632610 205632610 G T rs145880670 SLC45A3 Synonymous SNV I103I 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 4.535 69629 chr1 205740668 205740668 G C rs41302139 RAB29 Nonsynonymous SNV Q80E 0.009 0.013 0.014 5 11 5 0.013 4 0 0 0 0 10.21 69630 chr1 204948130 204948130 C A rs762869013 NFASC Synonymous SNV T648T 0.004 0 0 0 5 0 0 0 0 0 0 0 21.3 69631 chr1 146737632 146737632 C T rs144288940 CHD1L Stop gain R57X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 69632 chr1 110201667 110201667 C T rs114328674 GSTM4 Nonsynonymous SNV R168C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 69633 chr19 8400493 8400493 G A rs202190603 KANK3 Nonsynonymous SNV P73L 0.007 0.01 0.007 8 8 4 0.021 2 0 0 0 0 22.8 69634 chr1 110607457 110607457 C G rs372198014 ALX3 Nonsynonymous SNV D116H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 69635 chr10 98136448 98136448 C T rs753694722 TLL2 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 69636 chr1 150122468 150122468 C T rs587751164 PLEKHO1 Synonymous SNV S7S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 16.95 69637 chr1 150131481 150131481 T C rs61752307 PLEKHO1 Synonymous SNV D159D 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 0.08 69638 chr1 207200847 207200847 A G C1orf116 Nonsynonymous SNV S33P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 69639 chr1 205306593 205306593 G A rs115956445 KLHDC8A Synonymous SNV L329L 0.01 0.008 0.003 1 12 3 0.003 1 0 0 0 0 9.417 69640 chr10 98510351 98510351 A T rs3789959 RPL13AP5 0 0 0.153 0 0 0 0 45 0 0 9 0 5.749 69641 chr1 161044549 161044549 C A rs151008073 NECTIN4 Synonymous SNV R284R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.07 69642 chr10 99179050 99179050 A C rs4547032 LOC644215 0 0 0.718 0 0 0 0 211 0 0 105 0 5.263 69643 chr10 30317853 30317853 G A rs7921028 JCAD Synonymous SNV P408P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.075 69644 chr1 201869519 201869519 T G rs372832468 LMOD1 Synonymous SNV R208R 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 8.088 69645 chr10 99225645 99225645 G A rs12360068 MMS19 Nonsynonymous SNV A460V 0.031 0.026 0.024 9 36 10 0.023 7 2 0 0 0 21.6 69646 chr1 201974779 201974779 G A rs148685424 RNPEP Nonsynonymous SNV A340T 0.004 0.013 0.003 5 5 5 0.013 1 0 0 0 0 14.3 69647 chr1 161335414 161335414 G A rs141881555 CFAP126 Nonsynonymous SNV R84C 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 33 69648 chr10 33017896 33017899 AAAT - rs202220321 CCDC7 N919Lfs*11 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 69649 chr1 161967856 161967856 C A rs116670170 OLFML2B Nonsynonymous SNV Q412H 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 5.99 69650 chr1 144931387 144931387 T G rs61805374 PDE4DIP Nonsynonymous SNV I108L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.617 69651 chr1 202711622 202711622 C T KDM5B Nonsynonymous SNV G784D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 69652 chr1 202976622 202976622 G T rs11558253 TMEM183A Nonsynonymous SNV R10M 0.025 0.023 0.01 4 29 9 0.01 3 1 0 0 0 23.2 69653 chr1 145440734 145440734 C T TXNIP Stop gain R257X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 38 69654 chr10 43596167 43596167 C T rs762626209 RET Nonsynonymous SNV R112C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.9 69655 chr1 210004332 210004332 G A rs61747285 UTP25 Nonsynonymous SNV G111D 0.121 0.089 0.105 47 142 34 0.121 31 7 1 0 1 0.003 69656 chr1 208227814 208227814 C T rs2274447 PLXNA2 Synonymous SNV E936E 0.01 0.01 0.014 1 12 4 0.003 4 0 0 0 0 Benign 16.75 69657 chr10 43612121 43612121 G A rs762876946 RET Synonymous SNV T488T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15.62 69658 chr1 203690406 203690406 C T rs77789819 ATP2B4 Nonsynonymous SNV P894S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.2 69659 chr1 203766964 203766964 A G rs3737972 ZBED6 Nonsynonymous SNV N105S 0.016 0.008 0 2 19 3 0.005 0 0 0 0 0 0.001 69660 chr1 152275789 152275789 C T rs74129447 FLG Nonsynonymous SNV R3858H 0.011 0.008 0.007 3 13 3 0.008 2 0 0 0 0 Likely benign 4.081 69661 chr1 210761344 210761344 C T rs145923092 HHAT Synonymous SNV Y245Y 0.02 0.018 0.02 6 24 7 0.015 6 0 1 0 0 Benign 14.03 69662 chr1 150255746 150255746 A T rs76442269 CIART Synonymous SNV P23P 0.014 0.005 0.003 4 16 2 0.01 1 0 0 0 0 1.248 69663 chr11 1017112 1017112 G A rs77753732 MUC6 Nonsynonymous SNV P1897S 0.003 0.005 0.024 3 3 2 0.008 7 0 0 0 0 0.008 69664 chr1 165648710 165648710 G A rs1143660 ALDH9A1 Nonsynonymous SNV A300V 0.026 0.023 0.003 6 30 9 0.015 1 0 0 0 0 32 69665 chr1 150300880 150300880 C T rs59082627 PRPF3 Synonymous SNV I126I 0.014 0.005 0.003 4 16 2 0.01 1 0 0 0 0 Benign 11.43 69666 chr1 20980847 20980847 C T rs41307775 DDOST Synonymous SNV G238G 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 14.31 69667 chr1 11728920 11728920 G C rs138673974 FBXO6 Nonsynonymous SNV D69H 0.008 0.003 0 6 9 1 0.015 0 0 0 0 0 24.3 69668 chr1 204379853 204379853 G A rs777838004 PPP1R15B Synonymous SNV D229D 0 0.005 0 0 0 2 0 0 0 0 0 0 0.732 69669 chr1 204587688 204587688 G C rs755975868 LRRN2 Nonsynonymous SNV P478R 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 69670 chr1 204589057 204589057 C T rs72753850 LRRN2 Nonsynonymous SNV V22M 0.026 0.029 0.007 7 31 11 0.018 2 1 0 0 0 21.9 69671 chr1 152800273 152800273 T G rs147877947 LCE1A Nonsynonymous SNV C109G 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 15.75 69672 chr1 21564631 21564631 C T rs141146885 ECE1 Nonsynonymous SNV S450N 0.009 0.008 0.007 5 10 3 0.013 2 0 0 0 0 Benign/Likely benign 12.33 69673 chr1 205138321 205138321 G C rs35845538 DSTYK Nonsynonymous SNV L432V 0.028 0.034 0.027 17 33 13 0.044 8 0 0 0 2 15.77 69674 chr1 117087040 117087040 A C CD58 Nonsynonymous SNV V86G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 69675 chr1 11721321 11721321 G A rs12057383 FBXO44 Nonsynonymous SNV A212T 0.012 0.003 0.007 3 14 1 0.008 2 0 0 0 0 10.09 69676 chr1 216062306 216062306 A G rs56385601 USH2A Nonsynonymous SNV V2562A 0.02 0.023 0.014 7 24 9 0.018 4 0 0 0 0 Benign 18.57 69677 chr1 205811865 205811865 G T rs141605758 PM20D1 Nonsynonymous SNV P281Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.3 69678 chr1 2160661 2160661 C T rs149898447 SKI Synonymous SNV R152R 0.02 0.029 0.003 8 23 11 0.021 1 0 0 0 0 Benign 9.122 69679 chr1 213186757 213186757 G T rs763947803 ANGEL2 Stop gain Y21X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 69680 chr1 217804258 217804258 C G rs200502282 GPATCH2 Nonsynonymous SNV W19S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.6 69681 chr19 9069958 9069958 G A rs61747477 MUC16 Nonsynonymous SNV P5830S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.011 69682 chr1 22030884 22030884 T C rs61749350 USP48 Nonsynonymous SNV I729V 0.008 0.005 0.02 6 9 2 0.015 6 0 0 0 0 14.24 69683 chr1 154473961 154473961 G A rs138829106 SHE Nonsynonymous SNV S181F 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 26.9 69684 chr10 50154942 50154942 C T WDFY4 Synonymous SNV Y2635Y 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 69685 chr1 153066080 153066080 A G rs141464338 SPRR2E Nonsynonymous SNV C50R 0.006 0.008 0.007 3 7 3 0.008 2 0 0 0 0 0.306 69686 chr11 101832590 101832590 C A rs11225089 CEP126 Nonsynonymous SNV S275Y 0.036 0.044 0.024 14 42 17 0.036 7 0 1 0 0 23 69687 chr11 101832608 101832608 T C rs11225090 CEP126 Nonsynonymous SNV I281T 0.036 0.044 0.024 14 42 17 0.036 7 0 1 0 0 0.009 69688 chr11 101832670 101832670 G A rs11225091 CEP126 Nonsynonymous SNV A302T 0.036 0.044 0.024 14 42 17 0.036 7 0 1 0 0 5.242 69689 chr1 154918352 154918352 G A rs41264253 PBXIP1 Synonymous SNV L445L 0.036 0.036 0.048 11 42 14 0.028 14 2 0 0 0 9.172 69690 chr1 119965070 119965070 C T rs114032180 HSD3B2 Nonsynonymous SNV R316C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 20.5 69691 chr1 209605648 209605648 - AGC MIR205HG 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 69692 chr1 222712108 222712108 G T rs116359984 HHIPL2 Nonsynonymous SNV L487M 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 Benign 25.8 69693 chr10 50533137 50533137 A C rs192229234 C10orf71 Synonymous SNV S849S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 1.202 69694 chr1 209800230 209800230 C T rs2076349 LAMB3 Nonsynonymous SNV V527M 0.026 0.018 0.041 10 30 7 0.026 12 1 0 0 0 Benign 10.99 69695 chr1 220330777 220330777 C T rs140377995 RAB3GAP2 Synonymous SNV A1130A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.71 69696 chr1 209801519 209801519 C T rs2076351 LAMB3 Synonymous SNV P383P 0.009 0.005 0.014 1 11 2 0.003 4 1 0 0 0 Benign 12.33 69697 chr1 222802513 222802513 C T rs374061481 MIA3 Synonymous SNV L651L 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 10.66 69698 chr1 153748161 153748161 G C rs34527123 SLC27A3 Nonsynonymous SNV G63A 0.036 0.029 0.054 17 42 11 0.044 16 0 0 0 0 12.89 69699 chr10 50534699 50534699 C T rs372309995 C10orf71 Nonsynonymous SNV A1370V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.55 69700 chr19 9577734 9577734 T C rs10416098 ZNF560 Nonsynonymous SNV Y524C 0.001 0.003 0.01 8 1 1 0.021 3 0 0 1 1 0.006 69701 chr10 50667278 50667278 A C rs34917815 ERCC6 Nonsynonymous SNV D1355E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 11 69702 chr1 12064892 12064892 G A rs138382758 MFN2 Nonsynonymous SNV R468H 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 69703 chr11 102820938 102820938 G C rs781841656 MMP13 Nonsynonymous SNV P273R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 69704 chr10 50959983 50959983 G A rs61731733 OGDHL Synonymous SNV N4N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.44 69705 chr10 50960281 50960281 A C rs76889077 OGDHL Synonymous SNV L107L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.226 69706 chr1 17396592 17396592 G A rs11581590 PADI2 Synonymous SNV F585F 0.033 0.052 0.034 23 39 20 0.059 10 0 2 0 0 12.66 69707 chr1 2234791 2234791 C T rs75280988 SKI Nonsynonymous SNV A388V 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Benign/Likely benign 11 69708 chr1 12266978 12266978 C T rs747823545 TNFRSF1B Synonymous SNV A429A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 69709 chr19 9949152 9949152 G A rs2233682 PIN1 Synonymous SNV Q33Q 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 7.944 69710 chr1 1246257 1246273 GGCTCTGGGTCACAGGT - rs142589758 PUSL1 G252Tfs*164 0.054 0.073 0.061 29 63 28 0.074 18 8 4 1 3 69711 chr1 223949314 223949314 G C rs28370127 CAPN2 Nonsynonymous SNV E443Q 0.003 0.018 0 2 3 7 0.005 0 0 0 0 0 17.98 69712 chr11 1036622 1036622 C T rs766940230 MUC6 Nonsynonymous SNV G12R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 69713 chr10 53822362 53822362 A C rs145917628 PRKG1 Synonymous SNV G287G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.086 69714 chr1 224009035 224009035 T C rs372699210 TP53BP2 Nonsynonymous SNV Q21R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 27.4 69715 chr1 224302047 224302047 C T rs73124414 FBXO28 Synonymous SNV I72I 0.018 0.013 0.01 5 21 5 0.013 3 1 0 0 0 19.07 69716 chr1 224488315 224488315 T C rs16846339 NVL Synonymous SNV G148G 0.01 0.01 0.014 2 12 4 0.005 4 0 0 0 0 6.011 69717 chr1 224492783 224492783 T A rs138739288 NVL Nonsynonymous SNV D18V 0.009 0.01 0.01 0 10 4 0 3 0 0 0 0 20.7 69718 chr1 214170948 214170948 A G PROX1 Nonsynonymous SNV N357S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.317 69719 chr1 155239455 155239455 C G CLK2 Nonsynonymous SNV G75R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.6 69720 chr10 61832597 61832597 T C ANK3 Nonsynonymous SNV Q2681R 0.003 0 0 0 4 0 0 0 0 0 0 0 7.698 69721 chr1 225380538 225380538 A C rs187487970 DNAH14 Synonymous SNV V1937V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.488 69722 chr1 225586274 225586274 G T rs41304131 DNAH14 Nonsynonymous SNV G4515V 0.021 0.026 0.027 7 25 10 0.018 8 0 1 0 0 26.5 69723 chr1 149858127 149858127 C A rs375883729 H2BC21 Nonsynonymous SNV A22S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 69724 chr11 108264068 108264068 G A rs137901968 C11orf65 Nonsynonymous SNV H151Y 0.013 0.005 0.01 5 15 2 0.013 3 0 0 0 0 0.001 69725 chr1 109271348 109271348 G A rs11583590 FNDC7 Synonymous SNV T488T 0.026 0.021 0.024 14 31 8 0.036 7 1 0 0 1 3.175 69726 chr11 10874862 10874862 T A rs190420451 ZBED5 Nonsynonymous SNV D544V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.11 69727 chr1 157660155 157660155 C T rs143115777 FCRL3 Nonsynonymous SNV G527E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.7 69728 chr1 150550924 150550924 T C rs34645101 MCL1 Synonymous SNV K244K 0.01 0.008 0.024 4 12 3 0.01 7 0 0 0 0 Benign 8.781 69729 chr11 111383756 111383756 G A rs72550778 LOC728196 0 0 0.065 0 0 0 0 19 0 0 0 0 10.88 69730 chr11 111383813 111383813 T G rs72550779 LOC728196 0 0 0.061 0 0 0 0 18 0 0 0 0 5.396 69731 chr1 150789864 150789864 A C rs10305741 ARNT Nonsynonymous SNV D502E 0.01 0.008 0.02 6 12 3 0.015 6 0 0 0 0 13.48 69732 chr11 111706952 111706952 G A rs185149177 ALG9 Nonsynonymous SNV P335L 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign/Likely benign 23.2 69733 chr1 150939883 150939883 A G rs78875607 CERS2 Synonymous SNV S199S 0.013 0.01 0.02 8 15 4 0.021 6 0 0 0 0 Benign 11.46 69734 chr1 150940308 150940308 G A rs76805488 CERS2 Synonymous SNV A152A 0.013 0.01 0.02 8 15 4 0.021 6 0 0 0 0 Benign 17.87 69735 chr1 109704626 109704626 C T KIAA1324 Synonymous SNV G88G 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 16.85 69736 chr1 158369106 158369106 G A rs371572112 OR10T2 Nonsynonymous SNV R51C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.914 69737 chr1 109740211 109740211 C T rs771181312 KIAA1324 Nonsynonymous SNV P408L 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 25.8 69738 chr1 151039913 151039913 C T rs41266626 MLLT11 Synonymous SNV T71T 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Benign 13.65 69739 chr1 151089888 151089888 A C rs59454556 GABPB2 Nonsynonymous SNV K237Q 0.051 0.026 0.051 5 60 10 0.013 15 0 0 0 0 12.5 69740 chr1 151108231 151108231 C T rs146046629 SEMA6C Synonymous SNV L383L 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 12.94 69741 chr1 151131581 151131581 G A rs41310905 TNFAIP8L2 Synonymous SNV T136T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign 12.51 69742 chr1 151140742 151140742 C T rs138637165 SCNM1, TNFAIP8L2-SCNM1 Nonsynonymous SNV A139V 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 18.24 69743 chr1 158517543 158517543 A T rs138738485 OR6Y1 Nonsynonymous SNV I118N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.5 69744 chr1 151143970 151143970 G C rs28730722 TMOD4 Nonsynonymous SNV A222G 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 14.31 69745 chr1 151149487 151149487 A G rs78427992 VPS72 Nonsynonymous SNV V254A 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 0.237 69746 chr1 156696916 156696916 G A rs149747799 ISG20L2 Nonsynonymous SNV R177W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.712 69747 chr1 151238575 151238575 G A rs41269696 PSMD4 Synonymous SNV T250T 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 Benign 9.964 69748 chr10 70992634 70992634 C T rs35746503 HKDC1 Nonsynonymous SNV T114M 0.018 0.016 0.02 1 21 6 0.003 6 0 0 0 0 21.6 69749 chr11 113264382 113264382 G A rs35877321 ANKK1 Nonsynonymous SNV R122H 0.015 0.016 0.027 19 18 6 0.049 8 0 0 0 0 11.25 69750 chr1 151259113 151259113 G A rs112780836 ZNF687 Nonsynonymous SNV G116R 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 Benign 6.442 69751 chr1 156810734 156810734 G A rs535798216 INSRR Synonymous SNV T1275T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.98 69752 chr1 151315615 151315615 G A RFX5 Nonsynonymous SNV L300F 0.003 0 0 0 4 0 0 0 0 0 0 0 9.977 69753 chr1 228288896 228288896 C T rs79502515 C1orf35 Nonsynonymous SNV R243Q 0.004 0.01 0.02 2 5 4 0.005 6 0 0 0 0 16.13 69754 chr1 151774063 151774063 C T rs142939659 LINGO4 Nonsynonymous SNV R373H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.9 69755 chr1 228336430 228336430 C G rs373687915 GUK1 Synonymous SNV P201P 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 4.618 69756 chr1 152128186 152128186 A G rs756656428 RPTN Synonymous SNV Y463Y 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.01 69757 chr1 157804260 157804260 G A rs141546266 CD5L Nonsynonymous SNV P219S 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 10.41 69758 chr1 158064439 158064439 C A rs41273465 KIRREL1 Synonymous SNV P501P 0.045 0.052 0.061 11 53 20 0.028 18 1 0 0 0 12.52 69759 chr1 158224904 158224904 C T rs2269714 CD1A Nonsynonymous SNV T19I 0.065 0.049 0.061 22 76 19 0.056 18 2 0 1 2 0.001 69760 chr1 158225019 158225019 C G rs2269715 CD1A Nonsynonymous SNV C57W 0.065 0.049 0.061 21 76 19 0.054 18 2 0 1 2 5.529 69761 chr1 158262622 158262622 A C rs41273485 CD1C Synonymous SNV R283R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.025 69762 chr11 116655859 116655859 C T rs140390701 ZPR1 Nonsynonymous SNV E183K 0.014 0.016 0.014 9 17 6 0.023 4 0 0 0 0 25.6 69763 chr11 116692293 116692293 C A rs12721043 APOA4 Nonsynonymous SNV A161S 0.004 0.008 0.02 2 5 3 0.005 6 0 0 0 0 23 69764 chr1 228482059 228482059 G A rs56218706 OBSCN Nonsynonymous SNV G3780R 0.006 0.01 0.017 2 7 4 0.005 5 0 0 0 0 26.9 69765 chr1 112251854 112251854 C T rs147771787 RAP1A Synonymous SNV L184L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 14.21 69766 chr1 228503711 228503711 G A rs116266256 OBSCN Synonymous SNV E4392E 0.027 0.036 0.027 20 32 14 0.051 8 0 0 0 1 8.963 69767 chr11 117307965 117307965 G A rs777963250 DSCAML1 Synonymous SNV N1531N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.821 69768 chr1 186064616 186064616 T C rs72720910 HMCN1 Synonymous SNV A3512A 0.014 0.018 0.007 8 16 7 0.021 2 0 0 0 0 Benign 11.31 69769 chr1 186092103 186092103 C T rs41317489 HMCN1 Nonsynonymous SNV H4084Y 0.014 0.018 0.007 8 16 7 0.021 2 0 0 0 0 Benign 24.2 69770 chr1 228557756 228557756 C A OBSCN Nonsynonymous SNV A6694D 0 0.005 0 0 0 2 0 0 0 0 0 0 29.5 69771 chr1 228559223 228559223 G A rs745965571 OBSCN Nonsynonymous SNV R6915H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.2 69772 chr1 186099180 186099180 C T rs41317491 HMCN1 Synonymous SNV T4329T 0.014 0.018 0.007 8 16 7 0.021 2 0 0 0 0 Benign 18.05 69773 chr1 186113727 186113727 G A rs6693069 HMCN1 Nonsynonymous SNV A4720T 0.014 0.018 0.014 8 16 7 0.021 4 0 0 0 0 Benign 0.063 69774 chr1 153655947 153655947 C T rs148618212 NPR1 Synonymous SNV P453P 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 14.12 69775 chr1 186113748 186113748 T C rs763279964 HMCN1 Nonsynonymous SNV C4727R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 28 69776 chr1 228565208 228565208 C T rs55755045 OBSCN Synonymous SNV S7766S 0.028 0.036 0.024 19 33 14 0.049 7 0 0 0 1 13.66 69777 chr1 186134246 186134246 A T rs41317507 HMCN1 Nonsynonymous SNV D5087V 0.016 0.021 0.014 8 19 8 0.021 4 0 0 0 0 Benign 25 69778 chr1 153742265 153742265 C T rs199790629 INTS3 Synonymous SNV H778H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.85 69779 chr1 153941924 153941924 C A rs759564547 CREB3L4 Nonsynonymous SNV T179K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.962 69780 chr1 160968676 160968676 C T rs149044377 F11R Synonymous SNV S246S 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 20.7 69781 chr1 186332066 186332066 T G rs186229244 TPR Nonsynonymous SNV E200A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 69782 chr1 230379092 230379092 A T rs142046356 GALNT2 Nonsynonymous SNV Q178H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.89 69783 chr1 159856388 159856388 C T rs112274025 CFAP45 Nonsynonymous SNV R227Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 34 69784 chr10 75556402 75556402 T C rs188227292 ZSWIM8-AS1 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.005 69785 chr10 75556447 75556447 C A rs183190137 ZSWIM8-AS1 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.311 69786 chr1 159902335 159902335 G A rs111438240 IGSF9 Synonymous SNV A404A 0.005 0.003 0.02 2 6 1 0.005 6 0 0 0 0 11.77 69787 chr1 160681508 160681508 G A rs11541827 CD48 Synonymous SNV L16L 0.016 0.01 0.02 6 19 4 0.015 6 0 0 0 0 6.259 69788 chr1 160783557 160783557 C A rs35923801 LY9 Nonsynonymous SNV P196T 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 0.001 69789 chr1 11766493 11766493 C T rs202026446 DRAXIN Nonsynonymous SNV R60W 0.011 0.005 0.007 3 13 2 0.008 2 1 0 0 0 28.3 69790 chr1 11826085 11826085 G A rs114941496 C1orf167 Nonsynonymous SNV R81H 0.014 0.01 0.027 8 17 4 0.021 8 1 0 0 0 0.22 69791 chr11 120742059 120742059 G A rs73007813 LOC101929227 0 0 0.014 0 0 0 0 4 0 0 0 0 6.166 69792 chr1 155786013 155786013 T C rs137904030 GON4L Nonsynonymous SNV N352S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.71 69793 chr1 1647869 1647869 T C CDK11A, CDK11B Nonsynonymous SNV H125R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.479 69794 chr1 161726634 161726634 G C DUSP12 Nonsynonymous SNV C307S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 69795 chr1 156021079 156021079 G A rs41265007 UBQLN4 Synonymous SNV S100S 0.022 0.031 0.01 7 26 12 0.018 3 0 1 0 0 11.78 69796 chr10 86131003 86131003 T C rs17103381 CCSER2 Synonymous SNV N65N 0.014 0.003 0.02 5 16 1 0.013 6 0 0 0 0 0.025 69797 chr1 156206205 156206205 C T rs142724511 PMF1, PMF1-BGLAP Nonsynonymous SNV P145L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.9 69798 chr11 122774782 122774782 C T JHY Nonsynonymous SNV P165L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 69799 chr11 122888570 122888570 G T rs7933723 LOC341056 0 0 0.439 0 0 0 0 129 0 0 35 0 3.08 69800 chr1 236711374 236711374 G - rs577225684 LGALS8 E289Dfs*26 0.002 0.003 0 0 2 1 0 0 0 0 0 0 69801 chr10 86273823 86273823 C T rs183941307 CCSER2 Nonsynonymous SNV R409C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.59 69802 chr1 11844520 11844520 C T rs41275466 C1orf167 Stop gain Q1099X 0.014 0.005 0.01 6 17 2 0.015 3 1 0 0 0 36 69803 chr1 11847449 11847449 G A rs3737967 C1orf167 Nonsynonymous SNV R1191H 0.017 0.01 0.024 6 20 4 0.015 7 1 0 0 0 Likely benign 15.14 69804 chr1 156348147 156348147 C T rs375155417 RHBG Synonymous SNV H210H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 15.4 69805 chr1 16264022 16264022 G C rs41269153 SPEN Nonsynonymous SNV G3464A 0.007 0.005 0.01 7 8 2 0.018 3 0 0 0 0 9.988 69806 chr1 11850927 11850927 C T rs2274976 MTHFR Nonsynonymous SNV R635Q 0.017 0.01 0.027 6 20 4 0.015 8 1 0 0 0 Benign/Likely benign, other 17.93 69807 chr1 22924227 22924227 C T rs199791152 EPHA8 Synonymous SNV P663P 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 19.32 69808 chr11 123777441 123777441 - T rs201238608 OR8D4 Frameshift insertion C105Lfs*7 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 69809 chr1 201083930 201083930 A G rs2274236 ASCL5 Nonsynonymous SNV S191P 0.022 0.042 0.007 8 26 16 0.021 2 0 0 0 0 23.6 69810 chr1 236898942 236898942 G C rs2288599 ACTN2 Synonymous SNV V235V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 10.23 69811 chr1 11897082 11897082 C T rs41275500 CLCN6 Synonymous SNV G647G 0.016 0.01 0.024 6 19 4 0.015 7 1 0 0 0 14.42 69812 chr1 201115964 201115964 G A rs139286836 TMEM9 Synonymous SNV H57H 0.016 0.005 0.014 5 19 2 0.013 4 0 0 0 0 13.29 69813 chr1 11907648 11907648 C T rs5063 NPPA Nonsynonymous SNV V32M 0.02 0.018 0.024 8 23 7 0.021 7 1 0 0 0 5.366 69814 chr1 1200192 1200192 C G rs112631554 UBE2J2 Nonsynonymous SNV W50C 0.013 0.01 0.02 20 15 4 0.051 6 0 0 1 1 12.5 69815 chr1 1686081 1686081 G A rs75816936 NADK Nonsynonymous SNV R217W 0.06 0.06 0.02 18 71 23 0.046 6 0 0 0 0 11.46 69816 chr1 1200202 1200202 C T rs145877170 UBE2J2 Nonsynonymous SNV R47Q 0.007 0.008 0.014 12 8 3 0.031 4 0 0 0 0 4.226 69817 chr1 1691236 1691236 T A rs767857544 NADK Synonymous SNV S123S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.281 69818 chr1 237819145 237819145 C G RYR2 Nonsynonymous SNV L2664V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.25 69819 chr1 169525900 169525900 G A rs758832130 F5 Synonymous SNV T312T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.99 69820 chr1 23280165 23280165 C A rs148988625 LACTBL1 Nonsynonymous SNV G371C 0.038 0.029 0.017 18 45 11 0.046 5 2 0 0 1 25.6 69821 chr1 1226063 1226063 G A rs13306651 SCNN1D Nonsynonymous SNV A636T 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 11.68 69822 chr1 1226512 1226512 G A rs114257304 SCNN1D Nonsynonymous SNV V682M 0.018 0.005 0.017 13 21 2 0.033 5 0 0 0 0 6.237 69823 chr1 1226651 1226651 G C rs2229833 SCNN1D Synonymous SNV S690S 0.01 0.013 0.007 12 12 5 0.031 2 0 0 0 0 0.7 69824 chr1 1246438 1246438 G A rs115163464 PUSL1 Synonymous SNV L306L 0.01 0.018 0.01 14 12 7 0.036 3 0 0 0 0 0.076 69825 chr1 1250957 1250957 G A rs34054191 INTS11 Synonymous SNV H59H 0.01 0.018 0.01 14 12 7 0.036 3 0 0 0 0 13.03 69826 chr1 1263026 1263026 C T rs747710826 CPTP Synonymous SNV N176N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.5 69827 chr1 1267651 1267651 G A rs111615792 TAS1R3 Nonsynonymous SNV R247H 0.003 0.01 0.014 6 3 4 0.015 4 0 0 0 0 2.622 69828 chr1 167825449 167825449 T C rs112466731 ADCY10 Nonsynonymous SNV I556V 0.01 0.013 0 5 12 5 0.013 0 0 0 0 0 0.002 69829 chr1 157551321 157551321 C G rs199914402 FCRL4 Nonsynonymous SNV G417R 0.003 0 0 4 4 0 0.01 0 0 0 0 0 31 69830 chr1 201356298 201356298 C T rs143280381 LAD1 Nonsynonymous SNV S64N 0.008 0.008 0.003 4 9 3 0.01 1 0 0 0 0 Benign 24.8 69831 chr1 158299238 158299238 C T CD1B Nonsynonymous SNV A270T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.51 69832 chr1 1334519 1334519 G C rs114112990 CCNL2 Nonsynonymous SNV D56E 0.003 0.01 0.007 6 3 4 0.015 2 0 0 0 0 0.487 69833 chr1 202129930 202129930 G A rs72746636 PTPN7 Synonymous SNV V2V 0.035 0.023 0.017 12 41 9 0.031 5 1 0 0 0 10.62 69834 chr1 24419556 24419556 G A rs200618328 MYOM3 Nonsynonymous SNV T324I 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 5.416 69835 chr11 1253967 1253967 G A rs545191748 MUC5B Nonsynonymous SNV V678I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 69836 chr1 14105139 14105140 TG - rs776947041 PRDM2 D82Efs*2 0.014 0.013 0.014 3 17 5 0.008 4 0 0 0 0 69837 chr1 14105142 14105142 T - rs770299670 PRDM2 D83Efs*22 0.014 0.013 0.014 3 17 5 0.008 4 0 0 0 0 69838 chr1 236748393 236748393 A G rs150874819 HEATR1 Nonsynonymous SNV F725L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.42 69839 chr10 98742021 98742021 C T rs7098255 LCOR Synonymous SNV L602L 0.041 0.036 0.048 18 48 14 0.046 14 0 0 0 0 0.019 69840 chr10 98742605 98742605 C T rs3814163 LCOR Synonymous SNV L796L 0.042 0.039 0.048 20 49 15 0.051 14 0 0 0 0 9.492 69841 chr10 99052421 99052421 G A rs12356626 ARHGAP19-SLIT1 0.04 0.034 0.037 11 47 13 0.028 11 1 0 1 0 7.779 69842 chr11 125821763 125821763 C T rs12797894 VSIG10L2 Synonymous SNV F430F 0 0 0.15 0 0 0 0 44 0 0 5 0 4.617 69843 chr1 160057361 160057361 C T rs116253846 KCNJ9 Synonymous SNV D312D 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 10.54 69844 chr10 99126513 99126513 C T rs45527941 RRP12 Synonymous SNV Q967Q 0.038 0.034 0.041 16 45 13 0.041 12 1 0 1 0 14.86 69845 chr1 247264356 247264356 T C rs149094745 ZNF669 Nonsynonymous SNV R153G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.83 69846 chr10 99130282 99130282 T G rs11189170 RRP12 Synonymous SNV A773A 0.038 0.036 0.044 16 45 14 0.041 13 1 0 1 0 6.598 69847 chr1 17660490 17660490 A G rs144397490 PADI4 Nonsynonymous SNV Y109C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27 69848 chr10 99150237 99150237 G A rs41300219 RRP12 Synonymous SNV P171P 0.037 0.029 0.041 12 44 11 0.031 12 1 0 1 0 9.236 69849 chr1 23759743 23759743 G T rs140136454 ASAP3 Nonsynonymous SNV A708D 0.008 0.016 0.01 7 9 6 0.018 3 0 0 0 0 10.56 69850 chr11 125885293 125885293 G A rs201963480 CDON Synonymous SNV H347H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.166 69851 chr1 1470807 1470807 C T rs146206869 TMEM240 Nonsynonymous SNV A152T 0.026 0.029 0.024 18 30 11 0.046 7 0 0 0 0 1.373 69852 chr11 126873226 126873226 G T rs7115473 KIRREL3-AS3 0 0 0.065 0 0 0 0 19 0 0 1 0 17.87 69853 chr1 17298076 17298076 G A rs145314784 CROCC Synonymous SNV Q1967Q 0.01 0.01 0.02 4 12 4 0.01 6 0 0 0 0 8.119 69854 chr1 240071810 240071810 C T rs139009806 CHRM3 Synonymous SNV D353D 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Likely benign 9.629 69855 chr1 15874842 15874842 A C rs745407260 DNAJC16 Synonymous SNV T2T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 69856 chr10 99504595 99504595 G A rs75060573 ZFYVE27 Synonymous SNV K28K 0.023 0.021 0.024 6 27 8 0.015 7 0 0 0 0 Benign/Likely benign 11.01 69857 chr11 129034220 129034220 G A rs184537972 ARHGAP32 Synonymous SNV S73S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 69858 chr1 205631058 205631058 G A rs16856106 SLC45A3 Synonymous SNV T385T 0.032 0.023 0.027 12 37 9 0.031 8 1 0 0 0 10.53 69859 chr1 174221618 174221618 C T RABGAP1L Synonymous SNV S255S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.45 69860 chr1 206243599 206243599 C T rs113345311 RHEX 0.016 0.021 0.017 7 19 8 0.018 5 0 0 0 0 19.66 69861 chr10 101564000 101564000 G A rs4267009 ABCC2 Synonymous SNV A478A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.78 69862 chr1 2421279 2421279 C T rs114931988 PLCH2 Synonymous SNV D469D 0.021 0.031 0.027 8 25 12 0.021 8 0 0 0 0 Benign 14.97 69863 chr1 206651143 206651143 G A rs2297544 IKBKE Synonymous SNV R166R 0.018 0.023 0.017 16 21 9 0.041 5 0 0 0 0 4.665 69864 chr1 16265904 16265904 T A rs41269155 SPEN Synonymous SNV I3659I 0.033 0.034 0.061 14 39 13 0.036 18 1 0 1 0 10.76 69865 chr10 102016042 102016042 C T rs148854529 CWF19L1 Nonsynonymous SNV V24M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 24.3 69866 chr1 248084749 248084749 C A rs12142488 OR2T8 Nonsynonymous SNV L144M 0 0.005 0 0 0 2 0 0 0 1 0 0 0.001 69867 chr1 180159688 180159688 C A rs1042530385 QSOX1 Nonsynonymous SNV Q421K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.689 69868 chr1 207224328 207224328 A G rs78043860 YOD1 Synonymous SNV P16P 0.009 0.021 0.014 6 11 8 0.015 4 0 0 0 0 0.113 69869 chr1 245021550 245021550 G A HNRNPU Synonymous SNV L400L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.27 69870 chr1 152659479 152659479 G A rs148459371 LCE2B Nonsynonymous SNV G54S 0.003 0.003 0.003 6 3 1 0.015 1 0 0 0 1 5.824 69871 chr10 103991476 103991476 G T rs959424771 PITX3 Synonymous SNV R64R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.01 69872 chr1 166890186 166890186 G A rs774849465 ILDR2 Synonymous SNV L548L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.82 69873 chr1 178745914 178745914 C T rs61747558 RALGPS2 Synonymous SNV N5N 0.02 0.021 0.054 7 23 8 0.018 16 0 0 0 0 15.79 69874 chr1 21009189 21009189 T G rs115257742 KIF17 Nonsynonymous SNV E807A 0.003 0.013 0.003 1 3 5 0.003 1 0 0 0 0 29.1 69875 chr1 21012563 21012563 C T rs72650870 KIF17 Synonymous SNV A665A 0.037 0.034 0.024 7 43 13 0.018 7 2 1 0 0 14.14 69876 chr1 248524974 248524974 A G rs57795102 OR2T4 Nonsynonymous SNV N31S 0.026 0.023 0.017 5 30 9 0.013 5 0 1 0 0 0.041 69877 chr1 168035676 168035676 G A rs142891503 DCAF6 Synonymous SNV R648R 0.006 0.003 0 6 7 1 0.015 0 0 0 0 0 12.8 69878 chr1 153701197 153701197 A C rs148579877 INTS3 Synonymous SNV G29G 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 8.717 69879 chr1 16460374 16460374 G A rs902450629 EPHA2 Synonymous SNV D519D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 69880 chr1 183099560 183099560 G A rs20559 LAMC1 Nonsynonymous SNV R1121Q 0.034 0.026 0.014 15 40 10 0.038 4 0 0 0 0 23.2 69881 chr1 179877780 179877780 A C rs17279712 TOR1AIP1 Nonsynonymous SNV Q294H 0.035 0.036 0.031 16 41 14 0.041 9 0 0 0 0 Benign 0.001 69882 chr10 105794415 105794415 C T rs200313424 COL17A1 Nonsynonymous SNV D1244N 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Uncertain significance 34 69883 chr11 18134192 18134192 C T rs61882533 SAA3P 0 0 0.109 0 0 0 0 32 0 0 4 0 11.54 69884 chr1 16535145 16535147 CTT - rs756719819 ARHGEF19 K135del 0.002 0 0 0 2 0 0 0 0 0 0 0 69885 chr1 154991066 154991066 A G rs201399069 DCST2 Nonsynonymous SNV L759P 0.005 0.01 0 7 6 4 0.018 0 0 0 0 0 14.34 69886 chr1 169698657 169698657 A G rs3917455 SELE Synonymous SNV N291N 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 Benign 0.108 69887 chr10 106163533 106163533 C T rs41291850 CFAP58 Nonsynonymous SNV R696C 0.009 0.005 0.014 1 10 2 0.003 4 0 0 0 0 28.3 69888 chr10 107015519 107015519 G A rs144793546 SORCS3 Synonymous SNV P1099P 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 Benign 14.15 69889 chr1 181702616 181702616 G A rs41304253 CACNA1E Nonsynonymous SNV G979S 0.074 0.052 0.051 27 87 20 0.069 15 4 0 0 1 1.987 69890 chr11 18955515 18955515 A G rs138263314 MRGPRX1 Nonsynonymous SNV F273L 0.014 0.01 0.017 2 16 4 0.005 5 0 0 0 0 24.1 69891 chr1 216371793 216371793 A G rs41303257 USH2A Synonymous SNV N1315N 0.032 0.031 0.024 13 37 12 0.033 7 0 0 0 1 Benign 10.28 69892 chr1 25551554 25551556 GAA - rs781405605 SYF2 L126del 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 69893 chr1 183511230 183511230 G C SMG7 Nonsynonymous SNV E437Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.8 69894 chr11 20419148 20419148 C T rs774713541 PRMT3 Nonsynonymous SNV H134Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 69895 chr1 184764410 184764410 C T rs35601690 NIBAN1 Nonsynonymous SNV G830S 0.016 0.021 0.007 9 19 8 0.023 2 1 0 0 0 Benign 7.314 69896 chr1 185703968 185703968 C T rs114170176 HMCN1 Synonymous SNV S19S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 19.65 69897 chr1 26691287 26691310 CCACCGAGCGCTGGGGTGCCCCAG - rs144078461 ZNF683 L243_W250del 0.067 0.07 0.082 21 79 27 0.054 24 2 0 1 0 69898 chr1 171556322 171556322 G T rs140918664 PRRC2C Nonsynonymous SNV A2642S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24 69899 chr11 2291050 2291050 G A rs116549635 ASCL2 Synonymous SNV G171G 0.014 0.01 0.017 13 16 4 0.033 5 0 0 0 1 11.36 69900 chr10 116045796 116045796 G A rs79009215 VWA2 Nonsynonymous SNV V366M 0.014 0.029 0.007 9 17 11 0.023 2 1 0 0 0 Benign 26.8 69901 chr1 27332942 27332942 G A rs972179103 TENT5B Synonymous SNV A257A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.31 69902 chr1 17313726 17313726 G A rs369100259 ATP13A2 Synonymous SNV I922I 0.004 0 0 4 5 0 0.01 0 0 0 0 0 14.71 69903 chr1 176915087 176915087 C T rs138686233 ASTN1 Nonsynonymous SNV G742R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 69904 chr1 157489535 157489535 G A rs3827757 FCRL5 Synonymous SNV A886A 0.02 0.013 0 6 23 5 0.015 0 1 0 0 0 8.554 69905 chr1 157494106 157494106 C T rs34273689 FCRL5 Synonymous SNV E734E 0.015 0.01 0 7 18 4 0.018 0 0 0 0 0 8.099 69906 chr1 22446759 22446759 A G rs989275692 WNT4 Synonymous SNV C280C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.339 69907 chr1 158262605 158262605 G A rs770048157 CD1C Nonsynonymous SNV G277D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.99 69908 chr1 26392824 26392824 C A rs35123100 TRIM63 Synonymous SNV V89V 0.032 0.029 0.031 11 38 11 0.028 9 2 0 0 0 15.63 69909 chr1 200569583 200569583 C T rs114276164 KIF14 Nonsynonymous SNV R243Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.86 69910 chr1 26520292 26520292 G T rs12138368 CATSPER4 Nonsynonymous SNV L124F 0.043 0.023 0.031 16 51 9 0.041 9 2 0 0 0 11.54 69911 chr10 121663786 121663786 A G rs762112288 SEC23IP Synonymous SNV L366L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.939 69912 chr1 26527884 26527884 G A rs41310785 CATSPER4 Synonymous SNV E413E 0.043 0.023 0.031 16 51 9 0.041 9 2 0 0 0 7.942 69913 chr1 200869306 200869306 C T rs34596202 INAVA Synonymous SNV I85I 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Benign 19.91 69914 chr1 201038710 201038710 G A rs373328930 CACNA1S Nonsynonymous SNV R794C 0.011 0 0 2 13 0 0.005 0 0 0 0 0 Uncertain significance 29.3 69915 chr11 2683467 2683467 C G rs2075868 KCNQ1OT1 0 0 0.037 0 0 0 0 11 0 0 1 0 Benign 6.491 69916 chr1 190067994 190067994 A G rs148234393 BRINP3 Synonymous SNV Y383Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.002 69917 chr1 179312753 179312753 G A rs141826063 SOAT1 Nonsynonymous SNV A266T 0.007 0 0 1 8 0 0.003 0 0 0 0 0 21.3 69918 chr1 26658011 26658011 G A rs80177817 CRYBG2 Nonsynonymous SNV T1428I 0.014 0.026 0.024 10 17 10 0.026 7 0 0 0 0 23.1 69919 chr11 3111135 3111135 C T rs190393865 OSBPL5 Synonymous SNV R746R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.62 69920 chr11 31811461 31811463 TTT - rs760883786 PAX6 K244del 0.009 0.005 0.014 4 10 2 0.01 4 0 0 0 0 69921 chr1 33233541 33233541 G C rs771847593 KIAA1522 Nonsynonymous SNV R71P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.9 69922 chr11 3243427 3243427 T C rs12275900 MRGPRG-AS1 0 0 0.378 0 0 0 0 111 0 0 44 0 1.311 69923 chr10 124708283 124708283 G C C10orf88 Nonsynonymous SNV S177C 0.003 0 0 0 3 0 0 0 0 0 0 0 5.042 69924 chr11 32975641 32975641 G A rs75682354 QSER1 Synonymous SNV E1472E 0.027 0.016 0.014 13 32 6 0.033 4 0 0 0 0 12.56 69925 chr1 179526214 179526214 C T rs61747728 NPHS2 Nonsynonymous SNV R229Q 0.022 0.023 0.017 5 26 9 0.013 5 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 69926 chr1 228003508 228003508 G A rs41315595 PRSS38 Nonsynonymous SNV A31T 0.011 0.016 0.014 5 13 6 0.013 4 0 0 0 0 2.757 69927 chr1 179975648 179975648 C G rs146044862 CEP350 Nonsynonymous SNV P398A 0.012 0.005 0.003 5 14 2 0.013 1 0 0 0 0 27.1 69928 chr11 34938001 34938001 A G rs113073242 PDHX Nonsynonymous SNV E28G 0.029 0.005 0.102 11 34 2 0.028 30 8 0 5 3 Benign 5.612 69929 chr1 228401329 228401329 C T rs185717159 OBSCN Synonymous SNV R392R 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 Benign 13.71 69930 chr1 184764351 184764351 G A rs35543943 NIBAN1 Synonymous SNV D849D 0.009 0.005 0.014 0 10 2 0 4 0 0 0 0 1.465 69931 chr1 35657874 35657874 G C rs118141562 SFPQ Synonymous SNV P259P 0.009 0.005 0 2 11 2 0.005 0 1 0 0 0 6.285 69932 chr1 35864571 35864571 A G rs12040345 ZMYM4 Synonymous SNV Q796Q 0.005 0.013 0.007 4 6 5 0.01 2 0 0 0 0 4.314 69933 chr11 35454165 35454165 A G rs138681708 PAMR1 Synonymous SNV H523H 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 4.544 69934 chr1 35919178 35919178 T C rs16837364 KIAA0319L Synonymous SNV S631S 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 0.531 69935 chr1 36026194 36026194 C T NCDN Nonsynonymous SNV R131C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 69936 chr1 201178926 201178926 - GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA IGFN1 G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG 0.037 0.042 0.041 19 43 16 0.049 12 16 7 5 7 69937 chr1 32669791 32669791 G A rs199647520 CCDC28B Synonymous SNV K112K 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 Uncertain significance 11.24 69938 chr11 3681483 3681483 C G rs150574054 ART1 Nonsynonymous SNV P245R 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 26.5 69939 chr1 181701643 181701643 G C CACNA1E Synonymous SNV P788P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.924 69940 chr1 186010251 186010251 T A rs114669703 HMCN1 Nonsynonymous SNV I2096N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 32 69941 chr10 133981731 133981731 C A rs144977297 JAKMIP3 Nonsynonymous SNV A936D 0.02 0.023 0.031 12 24 9 0.031 9 0 0 0 0 5.191 69942 chr10 134011967 134011967 G A rs770111367 DPYSL4 Nonsynonymous SNV V224M 0.003 0 0 0 3 0 0 0 0 0 0 0 26.7 69943 chr1 204588988 204588988 A C rs200218737 LRRN2 Nonsynonymous SNV S45A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 69944 chr1 201355499 201355499 C T rs141517560 LAD1 Synonymous SNV P330P 0.013 0.013 0.01 6 15 5 0.015 3 0 0 0 0 Benign 14.18 69945 chr10 134038809 134038809 G A rs760905509 STK32C Synonymous SNV G281G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.843 69946 chr1 183190055 183190055 C A rs138266625 LAMC2 Nonsynonymous SNV A200E 0.016 0 0 5 19 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.751 69947 chr1 33360426 33360439 AGCTGGTGCAGCTC - rs527445029 TMEM54 Stop gain S193* 0.014 0.008 0.007 3 16 3 0.008 2 0 0 0 0 69948 chr1 186062755 186062755 C A rs747160879 HMCN1 Nonsynonymous SNV P3384T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.8 69949 chr1 33478872 33478872 G A rs746330303 AK2 Synonymous SNV I168I 0.006 0.016 0 0 7 6 0 0 0 0 0 0 Likely benign 14.52 69950 chr1 33478878 33478878 G A rs779366586 AK2 Synonymous SNV S166S 0.007 0.016 0 1 8 6 0.003 0 0 0 0 0 12.53 69951 chr1 33478888 33478888 C T rs202182972 AK2 Nonsynonymous SNV G163E 0.01 0.018 0 1 12 7 0.003 0 0 0 0 0 33 69952 chr1 33478900 33478900 T A rs113711467 AK2 Nonsynonymous SNV Y159F 0.012 0.023 0 3 14 9 0.008 0 0 0 0 0 25.8 69953 chr1 201358386 201358386 G A rs150992211 LAD1 Synonymous SNV R28R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 69954 chr1 33478959 33478959 C G rs72884305 AK2 Nonsynonymous SNV K139N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.6 69955 chr1 183909819 183909819 G A rs145846850 COLGALT2 Synonymous SNV Y500Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.17 69956 chr1 33772792 33772792 C T rs113218677 A3GALT2 Nonsynonymous SNV V200M 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 25.4 69957 chr1 205273040 205273040 G A rs56069742 NUAK2 Synonymous SNV G475G 0.005 0.01 0.014 1 6 4 0.003 4 0 0 0 0 1.923 69958 chr1 16133974 16133974 T C rs181656265 UQCRHL Synonymous SNV V57V 0.019 0.013 0.014 8 22 5 0.021 4 0 0 0 0 Benign 9.753 69959 chr1 39311617 39311617 T G rs11549874 RRAGC Synonymous SNV R314R 0.024 0.029 0.037 7 28 11 0.018 11 0 0 0 0 4.964 69960 chr1 205628387 205628387 C T rs774937348 SLC45A3 Nonsynonymous SNV S546N 0.009 0 0 2 11 0 0.005 0 0 0 0 0 16.49 69961 chr1 39340504 39340504 T G rs41270783 GJA9 Synonymous SNV R423R 0.037 0.047 0.031 8 43 18 0.021 9 3 0 0 0 0.74 69962 chr11 43591568 43591568 G A rs117187475 MIR670HG 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 69963 chr1 190068078 190068078 G A rs145578989 BRINP3 Synonymous SNV R355R 0.011 0.013 0 6 13 5 0.015 0 0 0 0 0 0.137 69964 chr1 205801756 205801756 C T rs114776144 PM20D1 Nonsynonymous SNV V419I 0.012 0 0.01 4 14 0 0.01 3 0 0 0 0 Benign 12.99 69965 chr1 34076684 34076684 G A rs757818939 CSMD2 Synonymous SNV S2100S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.15 69966 chr1 3428150 3428150 C T rs776841229 MEGF6 Nonsynonymous SNV G360S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 69967 chr1 202414202 202414202 A T rs112341840 PPP1R12B Nonsynonymous SNV T566S 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 19.82 69968 chr1 16258302 16258302 A G rs113470169 SPEN Nonsynonymous SNV N1856S 0.009 0.005 0.01 5 10 2 0.013 3 0 0 0 0 0.002 69969 chr1 16259143 16259143 G A rs58017855 SPEN Synonymous SNV Q2136Q 0.019 0.013 0.017 8 22 5 0.021 5 0 0 0 0 0.017 69970 chr1 193038542 193038542 C T rs755978946 RO60 Nonsynonymous SNV R120C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.7 69971 chr10 135113056 135113056 C T rs2298121 TUBGCP2 Nonsynonymous SNV A111T 0.009 0.01 0.017 4 11 4 0.01 5 0 0 0 0 0.815 69972 chr1 35453629 35453629 C T ZMYM6 Synonymous SNV V1018V 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 0.223 69973 chr1 1887288 1887288 C T CFAP74 Nonsynonymous SNV S673N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.394 69974 chr1 203708772 203708772 C T rs41264257 ATP2B4 Synonymous SNV F1136F 0.039 0.023 0.027 10 46 9 0.026 8 1 0 0 0 17.02 69975 chr1 232144739 232144739 G C rs115112816 DISC1 Nonsynonymous SNV E629Q 0.014 0.013 0.01 3 17 5 0.008 3 0 0 0 0 Benign 16.89 69976 chr1 41485933 41485933 A G rs61734920 SLFNL1 Synonymous SNV L134L 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 0.099 69977 chr1 3746514 3746514 C A rs12144567 CEP104 Synonymous SNV T628T 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 Benign 14.65 69978 chr1 205740611 205740611 A G rs200445820 RAB29 Synonymous SNV L99L 0.014 0.01 0.007 4 17 4 0.01 2 0 0 0 0 8.503 69979 chr11 48152063 48152063 C G rs141853869 PTPRJ Nonsynonymous SNV I470M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.58 69980 chr1 43296179 43296179 C T ERMAP Synonymous SNV F20F 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 10.22 69981 chr11 4825566 4825566 G A rs61744541 OR52R1 Synonymous SNV F15F 0.013 0.016 0.02 8 15 6 0.021 6 0 0 0 0 3.558 69982 chr1 167780075 167780075 C T rs144839993 ADCY10 Nonsynonymous SNV V1367I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 3.875 69983 chr1 43688550 43688550 T C rs150404479 CFAP57 Nonsynonymous SNV I863T 0.007 0.013 0.02 2 8 5 0.005 6 0 0 0 0 26.2 69984 chr1 206905040 206905040 C T rs34526867 MAPKAPK2 Synonymous SNV I316I 0.014 0.008 0.007 6 16 3 0.015 2 0 0 0 0 14.81 69985 chr1 212459454 212459454 - GTC rs572979647 PPP2R5A S5_P6insS 0.01 0.008 0.017 1 12 3 0.003 5 0 0 0 0 69986 chr1 41327627 41327627 T C rs116868841 CITED4 Nonsynonymous SNV Q58R 0.009 0.026 0.003 7 11 10 0.018 1 0 3 0 0 0.014 69987 chr1 201191923 201191923 G A rs759177675 IGFN1 Nonsynonymous SNV G3420R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 69988 chr1 45166683 45166683 C T rs76132381 ARMH1 Synonymous SNV H177H 0.015 0.018 0.003 3 18 7 0.008 1 0 0 0 0 Benign 14.67 69989 chr1 41327630 41327630 C G rs118006907 CITED4 Nonsynonymous SNV R57P 0.009 0.026 0.003 7 10 10 0.018 1 0 3 0 0 11.42 69990 chr11 488541 488541 G A rs34809643 PTDSS2 Nonsynonymous SNV V41M 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 29.8 69991 chr1 41486083 41486083 C A rs148992629 SLFNL1 Stop gain E84X 0.003 0.008 0 0 3 3 0 0 0 0 0 0 35 69992 chr11 541601 541601 G C rs116866926 LRRC56 Nonsynonymous SNV R81P 0.032 0.055 0.048 8 37 21 0.021 14 2 2 0 0 23.4 69993 chr1 208217968 208217968 G C rs200004691 PLXNA2 Synonymous SNV V1253V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.99 69994 chr1 208217971 208217971 G A rs150915206 PLXNA2 Synonymous SNV I1252I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 18.37 69995 chr1 44461615 44461615 G A rs142384645 CCDC24 Nonsynonymous SNV R102Q 0.002 0.013 0.003 3 2 5 0.008 1 0 0 0 0 5.951 69996 chr1 45481120 45481120 G A rs140927480 UROD Nonsynonymous SNV A352T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 69997 chr1 45270121 45270121 G A rs922691467 PLK3 Nonsynonymous SNV V485M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 69998 chr1 209788731 209788731 C T rs115712132 LAMB3 Nonsynonymous SNV R1135Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 11.93 69999 chr1 170985408 170985408 C T rs16863939 MROH9 Synonymous SNV N613N 0.009 0.021 0.003 5 10 8 0.013 1 0 0 0 0 10.14 70000 chr1 46086766 46086766 C T rs17410855 CCDC17 Nonsynonymous SNV V470I 0.014 0.018 0.003 4 17 7 0.01 1 0 1 0 0 23.5 70001 chr1 237961363 237961363 C T rs138498780 RYR2 Synonymous SNV Y4661Y 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign/Likely benign 14.16 70002 chr1 46195434 46195434 G A rs61729320 IPP Synonymous SNV S244S 0.02 0.029 0.007 6 24 11 0.015 2 1 0 0 0 11.7 70003 chr1 201180439 201180439 G A rs143641590 IGFN1 Nonsynonymous SNV A2140T 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 16.2 70004 chr11 617593 617593 G C rs137998609 CDHR5 Nonsynonymous SNV R572G 0.025 0.031 0.048 10 29 12 0.026 14 1 0 0 0 0.281 70005 chr1 201184896 201184896 T C rs758033982 IGFN1 Synonymous SNV C3075C 0.003 0 0 0 4 0 0 0 0 0 0 0 0.105 70006 chr1 241920726 241920726 T C rs375229967 WDR64 Synonymous SNV L638L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.045 70007 chr1 46775912 46775912 G A rs767749634 UQCRH Nonsynonymous SNV R47H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 70008 chr11 621883 621883 C T rs114264092 CDHR5 Nonsynonymous SNV V112M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 26.1 70009 chr1 17312558 17312558 A G rs185521359 ATP13A2 Synonymous SNV V1133V 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Likely benign 5.841 70010 chr11 640265 640265 G A rs199815231 DRD4 Nonsynonymous SNV G339D 0.004 0 0 0 5 0 0 0 0 0 0 0 25 70011 chr1 17313021 17313021 G A rs115985012 ATP13A2 Synonymous SNV T1109T 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.47 70012 chr1 204094987 204094987 C T rs34758764 SOX13 Nonsynonymous SNV P532S 0.012 0.003 0.007 3 14 1 0.008 2 0 0 0 0 16.66 70013 chr1 214638097 214638097 C T rs779134274 PTPN14 Nonsynonymous SNV S17N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.9 70014 chr1 44680549 44680549 C T rs770693384 DMAP1 Synonymous SNV Y124Y 0.002 0.01 0 0 2 4 0 0 0 0 0 0 4.953 70015 chr1 204411688 204411688 C G rs61763421 PIK3C2B Nonsynonymous SNV S1041T 0.003 0.01 0 0 4 4 0 0 0 0 0 0 24.1 70016 chr1 45480668 45480668 A G rs121918061 UROD Nonsynonymous SNV Y311C 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Likely pathogenic 30 70017 chr1 215848795 215848795 G A rs779875423 USH2A Nonsynonymous SNV A4153V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.7 70018 chr1 21586875 21586875 C T rs13306313 ECE1 Synonymous SNV T156T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 17.38 70019 chr1 244999801 244999801 G C rs12141433 COX20 Synonymous SNV S19S 0.006 0.021 0 1 7 8 0.003 0 0 0 0 0 1.682 70020 chr1 2451809 2451809 A G rs762001077 PANK4 Synonymous SNV I217I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 1.562 70021 chr1 202976599 202976599 C T rs535697247 TMEM183A Synonymous SNV A2A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.37 70022 chr1 245775127 245775127 C T rs373277791 KIF26B Synonymous SNV T649T 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 17.67 70023 chr1 176564033 176564033 C T rs776538831 PAPPA2 Synonymous SNV T431T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.792 70024 chr1 220955124 220955124 C T rs761979205 MTARC2 Nonsynonymous SNV R297C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 35 70025 chr1 206905941 206905941 G T rs55894011 MAPKAPK2 Nonsynonymous SNV A361S 0.01 0.016 0.024 3 12 6 0.008 7 0 0 1 0 23.4 70026 chr1 22155931 22155931 G A rs143431746 HSPG2 Synonymous SNV F3980F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 14.92 70027 chr1 22182076 22182076 A G rs1028890268 HSPG2 Synonymous SNV L1933L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.713 70028 chr11 5263335 5263335 T C rs112863595 HBBP1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.759 70029 chr1 205628616 205628616 C T rs137949511 SLC45A3 Nonsynonymous SNV V470I 0.02 0.016 0.037 3 24 6 0.008 11 0 0 0 0 0.187 70030 chr1 55060251 55060251 C T rs2304306 ACOT11 Nonsynonymous SNV P165L 0.009 0.01 0.02 5 11 4 0.013 6 1 0 0 0 22.2 70031 chr1 55064980 55064980 G A rs2304303 ACOT11 Nonsynonymous SNV R259H 0.009 0.013 0.02 5 11 5 0.013 6 1 0 0 0 18.73 70032 chr1 55075062 55075062 C T rs2289015 FAM151A Nonsynonymous SNV G546D 0.009 0.013 0.024 5 11 5 0.013 7 1 0 0 0 3.917 70033 chr1 55075122 55075122 C G rs11206394 FAM151A Nonsynonymous SNV G526A 0.012 0.016 0.044 7 14 6 0.018 13 1 0 0 0 0.134 70034 chr1 53535762 53535762 G A rs148109485 PODN Nonsynonymous SNV V79I 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 16.65 70035 chr1 180913601 180913601 G A rs767282754 KIAA1614 Nonsynonymous SNV R1079Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 27.7 70036 chr1 223986266 223986266 G A rs141114880 TP53BP2 Synonymous SNV D533D 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 Benign 4.466 70037 chr1 210194565 210194565 T C rs71515148 SYT14 Synonymous SNV Y136Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.27 70038 chr1 207963618 207963618 C T rs146803767 CD46 Nonsynonymous SNV T339I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.923 70039 chr1 248084579 248084579 G A rs113819678 OR2T8 Nonsynonymous SNV S87N 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 0.001 70040 chr1 211654619 211654619 G A rs34049451 RD3 Nonsynonymous SNV R47C 0.014 0.026 0.014 6 16 10 0.015 4 1 0 0 0 Benign 33 70041 chr1 57378149 57378149 G A rs1620075 C8A Nonsynonymous SNV R485H 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 Benign 17.16 70042 chr1 182423146 182423146 G A rs41299607 RGSL1 Nonsynonymous SNV D23N 0.018 0.008 0.031 9 21 3 0.023 9 0 0 0 0 32 70043 chr1 225380413 225380413 G C DNAH14 Nonsynonymous SNV G1896R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 70044 chr1 225492766 225492766 C T rs1034955641 DNAH14 Stop gain R2994X 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 37 70045 chr1 5927946 5927946 C T rs747973596 NPHP4 Nonsynonymous SNV R597Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 22.3 70046 chr1 225452983 225452983 A G rs76767146 DNAH14 Nonsynonymous SNV N2441S 0.043 0.049 0.065 25 51 19 0.064 19 6 1 0 0 2.439 70047 chr1 182922001 182922003 CCG - rs750758892 SHCBP1L A89del 0.003 0.003 0.027 2 4 1 0.005 8 0 0 0 0 70048 chr1 5927943 5927943 G A rs139767853 NPHP4 Nonsynonymous SNV A598V 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.773 70049 chr1 225552540 225552540 T G DNAH14 Nonsynonymous SNV L4012V 0.001 0 0 3 1 0 0.008 0 0 0 0 1 24.9 70050 chr1 225569142 225569142 G A rs557640063 DNAH14 Nonsynonymous SNV R4313Q 0.001 0.005 0 3 1 2 0.008 0 0 0 0 1 35 70051 chr1 2100978 2100978 C T rs115717767 PRKCZ Synonymous SNV Y149Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.751 70052 chr1 60299125 60299125 A G rs41312662 HOOK1 Nonsynonymous SNV I108V 0.012 0.016 0.02 6 14 6 0.015 6 0 0 0 0 14.2 70053 chr1 214505431 214505431 C T rs141785703 SMYD2 Synonymous SNV N336N 0.005 0.018 0.003 0 6 7 0 1 0 0 0 0 14.18 70054 chr1 214558119 214558119 T G rs112523432 PTPN14 Nonsynonymous SNV H360P 0.011 0.013 0.003 5 13 5 0.013 1 0 0 0 0 Benign 9.993 70055 chr1 225974630 225974630 G A rs749072051 SRP9 Nonsynonymous SNV D70N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 0.177 70056 chr1 6145273 6145273 G A rs34975389 KCNAB2 Synonymous SNV V30V 0.002 0.008 0.01 1 2 3 0.003 3 0 0 0 0 Benign 11.05 70057 chr1 226019599 226019599 T C rs2234699 EPHX1 Synonymous SNV F101F 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 1 Likely benign 5.136 70058 chr1 55562229 55562229 G A rs201586567 USP24 Synonymous SNV D2001D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.52 70059 chr1 226050512 226050512 C T rs114729361 TMEM63A Synonymous SNV L262L 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 1 12.42 70060 chr1 186275564 186275564 C T rs12128607 PRG4 Nonsynonymous SNV T104M 0.023 0.01 0.024 6 27 4 0.015 7 0 0 0 0 0.014 70061 chr1 62579758 62579758 G A rs41289428 PATJ Nonsynonymous SNV E1499K 0.026 0.023 0.017 8 31 9 0.021 5 0 0 0 0 34 70062 chr1 59247993 59247993 C T rs11688 JUN Synonymous SNV Q250Q 0.05 0.039 0.034 27 59 15 0.069 10 1 1 0 0 10.13 70063 chr1 186281400 186281400 C T rs12134934 PRG4 Nonsynonymous SNV T1162M 0.023 0.01 0.024 6 27 4 0.015 7 0 0 0 0 16.29 70064 chr1 186291512 186291512 T C rs10911846 TPR Synonymous SNV T2133T 0.023 0.01 0.024 6 27 4 0.015 7 0 0 0 0 10.81 70065 chr1 186301447 186301447 T C rs7526540 TPR Synonymous SNV P1828P 0.023 0.01 0.024 6 27 4 0.015 7 0 0 0 0 9.59 70066 chr1 60499231 60499231 T A rs146142683 C1orf87 Nonsynonymous SNV N316Y 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 26.3 70067 chr1 218520315 218520315 G A rs10482721 TGFB2 Nonsynonymous SNV R91H 0.012 0.026 0.007 6 14 10 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 70068 chr1 2528051 2528051 G T MMEL1 Synonymous SNV A450A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 70069 chr1 228556839 228556839 C T OBSCN Nonsynonymous SNV A6648V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 70070 chr1 63063616 63063616 C T rs72649573 ANGPTL3 Nonsynonymous SNV L127F 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign/Likely benign 26 70071 chr1 214814925 214814925 C T rs61732031 CENPF Nonsynonymous SNV H1082Y 0.005 0.005 0.014 5 6 2 0.013 4 0 0 0 0 19.87 70072 chr1 65098309 65098309 G A rs61731122 CACHD1 Synonymous SNV P224P 0.034 0.016 0.027 13 40 6 0.033 8 0 0 0 0 12.88 70073 chr1 214818548 214818548 C T rs61732022 CENPF Nonsynonymous SNV R1879C 0.005 0.005 0.014 5 6 2 0.013 4 0 0 0 0 10.57 70074 chr1 228444570 228444570 G A rs375200221 OBSCN Nonsynonymous SNV G1510R 0.005 0 0 0 6 0 0 0 0 0 0 0 24.4 70075 chr1 192321189 192321189 C T rs77664911 RGS21 Nonsynonymous SNV A34V 0.007 0.005 0.003 7 8 2 0.018 1 0 0 0 0 25.2 70076 chr1 214819044 214819044 C T rs7533166 CENPF Nonsynonymous SNV S2044L 0.005 0.005 0.014 5 6 2 0.013 4 0 0 0 0 23.8 70077 chr1 231472835 231472835 A C rs148264842 EXOC8 Synonymous SNV P219P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 0.011 70078 chr1 62910981 62910981 A T rs200323735 USP1 Nonsynonymous SNV D377V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.94 70079 chr1 6533338 6533338 G A rs780935962 PLEKHG5 Synonymous SNV S256S 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 7.921 70080 chr1 19615023 19615023 G A rs115242113 AKR7A3 Synonymous SNV L61L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.107 70081 chr1 19615030 19615030 A C rs199899317 AKR7A3 Synonymous SNV L58L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.007 70082 chr1 27688279 27688279 G A rs11247641 MAP3K6 Nonsynonymous SNV R491C 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 22.9 70083 chr1 216371836 216371836 C A rs111033524 USH2A Nonsynonymous SNV G1301V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 32 70084 chr1 218504400 218504400 C - rs541335404 RRP15 S272Rfs*15 0.014 0.026 0.007 7 16 10 0.018 2 0 0 0 0 70085 chr1 228562350 228562350 T C rs72762068 OBSCN Synonymous SNV L7520L 0.014 0.013 0.017 4 17 5 0.01 5 0 0 0 1 3.212 70086 chr1 67561056 67561056 C T rs61782288 C1orf141 Synonymous SNV S155S 0.051 0.042 0.037 10 60 16 0.026 11 2 0 0 0 6.455 70087 chr1 220156710 220156710 G A rs5030753 EPRS Nonsynonymous SNV H1041Y 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 4.429 70088 chr1 220316416 220316416 T C rs147694424 IARS2 Synonymous SNV N897N 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Likely benign 7.881 70089 chr1 230410217 230410217 G A rs16851310 GALNT2 Synonymous SNV S451S 0.003 0 0 6 3 0 0.015 0 0 0 0 0 8.053 70090 chr1 235505379 235505379 T C rs16832565 GGPS1 Synonymous SNV D65D 0.009 0.01 0.014 3 11 4 0.008 4 0 0 0 0 1.09 70091 chr1 22157780 22157780 G A rs377549147 HSPG2 Synonymous SNV I3831I 0.003 0 0 0 3 0 0 0 0 0 0 0 12.27 70092 chr1 22169325 22169325 C T rs41266007 HSPG2 Nonsynonymous SNV G2951R 0.007 0.008 0 7 8 3 0.018 0 0 0 0 0 Benign 33 70093 chr11 1276736 1276736 C T rs137980255 MUC5B Synonymous SNV C5338C 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Benign 8.257 70094 chr1 74507041 74507041 C G LRRIQ3 Nonsynonymous SNV R525P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 70095 chr11 1769211 1769211 C T rs555924410 IFITM10 Nonsynonymous SNV A75T 0.02 0.016 0.003 5 23 6 0.013 1 0 0 0 0 28.5 70096 chr11 1771672 1771673 TC - rs576976576 IFITM10 Star tloss M1? 0.02 0.016 0.003 5 23 6 0.013 1 0 0 0 0 70097 chr11 1857514 1857514 C T rs140659236 SYT8 Synonymous SNV H187H 0.02 0.013 0.003 11 24 5 0.028 1 0 0 0 0 12.6 70098 chr1 223284069 223284069 G A rs56243703 TLR5 Nonsynonymous SNV L769F 0.022 0.021 0.003 3 26 8 0.008 1 0 0 0 0 26.5 70099 chr1 8419928 8419928 G A rs201449768 RERE Nonsynonymous SNV R618C 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 23.4 70100 chr1 228003843 228003843 C T rs113353225 PRSS38 Synonymous SNV P67P 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 Benign 10.67 70101 chr1 2252970 2252970 C T rs150504740 MORN1 Nonsynonymous SNV G449E 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 26.4 70102 chr1 236187449 236187449 C T rs34743457 NID1 Synonymous SNV A683A 0.016 0.016 0.027 5 19 6 0.013 8 0 0 0 0 17.47 70103 chr1 236389666 236389666 G A rs761141225 ERO1B Nonsynonymous SNV P319S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 70104 chr11 2688282 2688282 C A KCNQ1OT1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.5 70105 chr1 225600341 225600341 T C rs2230422 LBR Nonsynonymous SNV Y300C 0.005 0 0.01 0 6 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 70106 chr1 203053009 203053009 C T rs141037864 MYOPARR 0 0 0 2 0 0 0.005 0 0 0 0 0 1.578 70107 chr1 82417725 82417725 T G ADGRL2 Nonsynonymous SNV S561A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.4 70108 chr1 36552586 36552586 G A rs140062207 TEKT2 Synonymous SNV A229A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 4.584 70109 chr1 82417726 82417726 C T rs755801633 ADGRL2 Nonsynonymous SNV S561F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.8 70110 chr11 575553 575553 A T rs60568231 LOC143666 0 0 0.224 0 0 0 0 66 0 0 5 0 6.564 70111 chr1 2268180 2268180 G A rs150260968 MORN1 Synonymous SNV F382F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 1.727 70112 chr1 86961291 86961291 C G rs41286590 CLCA1 Nonsynonymous SNV N682K 0.019 0.026 0.01 7 22 10 0.018 3 0 0 0 0 10.04 70113 chr1 237791196 237791196 G A RYR2 Nonsynonymous SNV V2086M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 70114 chr1 228506661 228506661 G A rs41305126 OBSCN Synonymous SNV L4736L 0.023 0.049 0.031 17 27 19 0.044 9 0 2 0 0 4.551 70115 chr1 244541901 244541901 C T rs374751783 C1orf100 Synonymous SNV T95T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.46 70116 chr1 245005290 245005290 C T rs140032239 COX20 Synonymous SNV C29C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Benign 15.75 70117 chr1 237993901 237993901 T A RYR2 Synonymous SNV T4909T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.84 70118 chr1 241729894 241729894 C T rs974240449 KMO Nonsynonymous SNV A264V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 70119 chr1 228559654 228559654 G A rs111616349 OBSCN Nonsynonymous SNV G7059S 0.02 0.029 0.017 16 24 11 0.041 5 0 1 0 0 14.78 70120 chr1 246754947 246754947 G A rs35286882 CNST Nonsynonymous SNV S28N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.878 70121 chr11 58206703 58206703 C T rs118148210 OR5B12 Nonsynonymous SNV A308T 0.01 0.008 0.027 1 12 3 0.003 8 0 0 0 0 0.02 70122 chr1 89835209 89835209 G A rs75966734 GBP6 Nonsynonymous SNV E99K 0.005 0.008 0 0 6 3 0 0 0 0 0 0 30 70123 chr1 247587343 247587343 G A rs121908147 NLRP3 Nonsynonymous SNV V200M 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 70124 chr1 89585878 89585878 C T rs138509928 GBP2 Nonsynonymous SNV A138T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 70125 chr1 2428289 2428289 G A rs778763816 PLCH2 Synonymous SNV S625S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 70126 chr1 228496066 228496066 G T rs55704206 OBSCN Nonsynonymous SNV A4241S 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 24.5 70127 chr11 58722296 58722296 A G rs140293060 GLYATL1 Synonymous SNV K80K 0.004 0.013 0.02 0 5 5 0 6 0 0 0 0 0.148 70128 chr1 897744 897744 C T rs146769616 KLHL17 Synonymous SNV L241L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.733 70129 chr1 230845932 230845932 G A rs146566988 AGT Nonsynonymous SNV P222L 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 12.29 70130 chr1 207642050 207642050 C A rs61759494 CR2 Synonymous SNV P208P 0.009 0.018 0.007 2 11 7 0.005 2 0 0 0 0 Benign 9.562 70131 chr11 59575204 59575204 C T rs748600735 MRPL16 Synonymous SNV T80T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 70132 chr1 914610 914610 C T rs145616017 PERM1 Synonymous SNV A600A 0.032 0.018 0.02 5 37 7 0.013 6 1 0 0 0 12.52 70133 chr1 232941183 232941183 T C MAP10 Synonymous SNV P138P 0.008 0.016 0 1 9 6 0.003 0 0 0 0 0 8.17 70134 chr1 244723989 244723989 C A rs75105221 CATSPERE Nonsynonymous SNV T199N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.001 70135 chr1 228564909 228564909 C T rs571437600 OBSCN Synonymous SNV H7732H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.54 70136 chr1 909314 909314 C T rs138435605 PLEKHN1 Synonymous SNV S477S 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 11.03 70137 chr1 92613253 92613253 G A rs139460683 BTBD8 Synonymous SNV K344K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.48 70138 chr1 22974025 22974025 C A C1QC Nonsynonymous SNV P74T 0.003 0 0 0 4 0 0 0 0 0 0 0 26.7 70139 chr1 248059353 248059355 CTC - rs147816311 OR2W3 S156del 0.037 0.057 0.051 27 44 22 0.069 15 3 0 1 2 70140 chr1 23640112 23640112 G A rs34061540 HNRNPR Synonymous SNV L207L 0.016 0.016 0.003 5 19 6 0.013 1 0 0 0 0 12.44 70141 chr1 9322155 9322155 C T rs149778702 H6PD Synonymous SNV R272R 0.011 0.008 0.01 7 13 3 0.018 3 0 0 0 0 13.08 70142 chr1 212873096 212873096 T C rs2202682 BATF3 Synonymous SNV Q3Q 0.019 0.023 0.044 10 22 9 0.026 13 3 0 1 3 3.918 70143 chr1 248224227 248224227 T C rs146249174 OR2L3 Nonsynonymous SNV S82P 0.007 0.008 0.003 1 8 3 0.003 1 1 0 0 0 13.9 70144 chr1 248224595 248224595 C T rs76336532 OR2L3 Synonymous SNV I204I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 7.463 70145 chr1 214787101 214787101 A G CENPF Nonsynonymous SNV S2G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.9 70146 chr1 237167557 237167557 A - rs748658866 MT1HL1 L39Rfs*51 0.007 0 0 0 8 0 0 0 0 0 0 0 70147 chr1 237670113 237670113 C T rs397516522 RYR2 Nonsynonymous SNV P906L 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 22.6 70148 chr1 235973470 235973470 T C LYST Synonymous SNV P216P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 70149 chr1 236180498 236180498 C T rs140374909 NID1 Nonsynonymous SNV R735H 0.016 0.026 0.02 6 19 10 0.015 6 0 0 0 0 Benign 33 70150 chr1 248097461 248097461 C T rs61750766 OR2AJ1 Nonsynonymous SNV R132C 0.017 0.016 0.027 9 20 6 0.023 8 0 0 0 1 23.8 70151 chr20 1276975 1276975 G A rs145237357 SNPH Nonsynonymous SNV G31E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.905 70152 chr1 248756167 248756167 C G rs61732484 OR2T10 Nonsynonymous SNV L301F 0.015 0.005 0.017 8 18 2 0.021 5 0 0 0 1 0.556 70153 chr1 241846828 241846828 C T rs41310589 WDR64 Synonymous SNV L222L 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 10.3 70154 chr1 248756411 248756411 T A rs28733753 OR2T10 Nonsynonymous SNV Y220F 0.015 0.005 0.017 8 18 2 0.021 5 0 0 0 1 0.012 70155 chr1 248756434 248756434 C A rs61997185 OR2T10 Synonymous SNV T212T 0.012 0.005 0.014 6 14 2 0.015 4 0 0 0 1 13.85 70156 chr1 248756474 248756474 A G rs28664620 OR2T10 Nonsynonymous SNV M199T 0.015 0.005 0.017 8 18 2 0.021 5 0 0 0 1 10.38 70157 chr1 248756994 248756994 G A rs28405936 OR2T10 Nonsynonymous SNV R26C 0.014 0.005 0.017 8 17 2 0.021 5 0 0 0 1 22 70158 chr1 242159552 242159552 G A rs147920150 MAP1LC3C Synonymous SNV Y119Y 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 11.46 70159 chr1 249150022 249150022 G A rs140745254 ZNF692 Synonymous SNV S216S 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 7.057 70160 chr1 242162275 242162275 G A rs61737761 MAP1LC3C Synonymous SNV P12P 0.007 0.008 0.017 12 8 3 0.031 5 0 0 0 0 12.09 70161 chr1 2444470 2444470 C T rs114254488 PANK4 Synonymous SNV Q528Q 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 7.249 70162 chr1 26566299 26566299 A G rs139801872 CEP85 Nonsynonymous SNV T9A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 70163 chr11 62985171 62985171 G A rs61746630 SLC22A25 Synonymous SNV L181L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.049 70164 chr1 2452321 2452321 C T rs76188199 PANK4 Synonymous SNV T149T 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 11.84 70165 chr1 26570657 26570657 G T rs139903267 CEP85 Nonsynonymous SNV S19I 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 22.5 70166 chr11 6023944 6023944 C G rs144089765 OR56A4 Nonsynonymous SNV R93S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.054 70167 chr20 18022362 18022362 G T rs6111803 OVOL2 Synonymous SNV T109T 0.026 0.031 0.031 9 31 12 0.023 9 1 1 0 0 11.01 70168 chr20 18118662 18118662 C T rs184370918 PET117 Synonymous SNV A21A 0.009 0.003 0.014 3 11 1 0.008 4 0 0 0 0 21.2 70169 chr20 20013780 20013780 G T rs375425231 NAA20 Nonsynonymous SNV K162N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.4 70170 chr1 223985963 223985963 C G rs61824007 TP53BP2 Nonsynonymous SNV Q634H 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 Benign 23.3 70171 chr1 223991959 223991959 G A rs61749337 TP53BP2 Nonsynonymous SNV A189V 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 Benign 23.5 70172 chr11 64067674 64067674 A G rs512372 KCNK4-TEX40 0 0 0.704 0 0 0 0 207 0 0 103 0 5.254 70173 chr11 64323508 64323508 G A rs75976740 SLC22A11 Nonsynonymous SNV V13M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 70174 chr1 55074647 55074647 G A rs45542642 ACOT11 Synonymous SNV Q549Q 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 22 70175 chr1 2436010 2436010 C T rs201982091 PLCH2 Synonymous SNV N1203N 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 10.35 70176 chr11 64434997 64434997 C T rs140588352 NRXN2 Nonsynonymous SNV R477H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 70177 chr11 64514213 64514213 C T rs139230055 PYGM Nonsynonymous SNV R728H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 70178 chr20 2312717 2312717 C T rs138085403 TGM3 Nonsynonymous SNV A468V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.21 70179 chr20 21369933 21369933 A C XRN2 Nonsynonymous SNV K1015T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.56 70180 chr20 23016819 23016819 C T rs141700474 SSTR4 Synonymous SNV L233L 0.018 0.031 0.014 9 21 12 0.023 4 0 0 0 0 Benign 7.475 70181 chr1 55223992 55223992 G A rs145005088 PARS2 Synonymous SNV N281N 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign 0.023 70182 chr1 26670948 26670948 G A rs199964823 CRYBG2 Nonsynonymous SNV T734M 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 8.329 70183 chr20 23433317 23433317 C T rs34604301 CST11 Synonymous SNV A44A 0.003 0.021 0.007 4 4 8 0.01 2 0 0 0 0 9.252 70184 chr11 64656357 64656357 G A rs656982 MIR194-2HG 0 0 0.276 0 0 0 0 81 0 0 40 0 9.071 70185 chr11 64673091 64673091 C T rs370937641 ATG2A Synonymous SNV A1128A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.18 70186 chr20 23028640 23028640 G A rs1800579 THBD Nonsynonymous SNV P501L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 70187 chr11 64702921 64702921 C T rs376582387 GPHA2 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 70188 chr11 64807447 64807447 A C rs664118 ARL2-SNX15 0 0 0.364 0 0 0 0 107 0 0 52 0 3.149 70189 chr1 27676504 27676504 G A rs149208728 SYTL1 Synonymous SNV A263A 0.014 0.008 0.003 1 16 3 0.003 1 0 0 0 0 13.94 70190 chr20 2464206 2464206 A G rs746493659 ZNF343 Synonymous SNV C377C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.095 70191 chr1 244541850 244541850 T C C1orf100 Synonymous SNV Y78Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 70192 chr20 2464789 2464789 T C rs757063219 ZNF343 Nonsynonymous SNV D183G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.4 70193 chr1 27720382 27720382 C G rs138953484 GPR3 Nonsynonymous SNV A27G 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.003 70194 chr11 65211735 65211744 TGTGTGTGTG - NEAT1 0 0 0.014 0 0 0 0 4 0 0 2 0 70195 chr1 28303893 28303893 T C rs181616029 EYA3 Nonsynonymous SNV Y504C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.004 70196 chr1 248084470 248084470 - G rs547311711 OR2T8 Frameshift insertion H51Rfs*32 0.025 0.008 0.014 9 29 3 0.023 4 1 0 0 1 70197 chr20 25484623 25484623 G A rs13044759 NINL Nonsynonymous SNV R276W 0.043 0.044 0.02 20 51 17 0.051 6 1 0 0 2 22.4 70198 chr1 247473095 247473095 G A rs75453877 ZNF496 Synonymous SNV A266A 0.02 0.021 0.01 2 23 8 0.005 3 0 0 0 0 6.245 70199 chr1 29618387 29618387 G A rs116098859 PTPRU Synonymous SNV P775P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.48 70200 chr11 6555254 6555254 G C rs758518205 DNHD1 Nonsynonymous SNV G950A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 70201 chr20 3102998 3102998 G A rs999409 UBOX5 Nonsynonymous SNV T96M 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 0.495 70202 chr1 248550969 248550969 C G rs140922495 OR2T6 Nonsynonymous SNV H20Q 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 0.003 70203 chr20 31894766 31894766 C T rs41311304 BPIFB1 Synonymous SNV F456F 0.055 0.049 0.048 29 65 19 0.074 14 5 0 0 3 11.69 70204 chr20 333893 333893 G A NRSN2 Nonsynonymous SNV V77M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 70205 chr20 3356886 3356886 T C rs140971067 C20orf194 Nonsynonymous SNV Y116C 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 27 70206 chr11 66258992 66258992 C A DPP3 Nonsynonymous SNV Q246K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 70207 chr11 66258993 66258993 A G DPP3 Nonsynonymous SNV Q246R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 70208 chr11 66262730 66262730 G A rs201930013 DPP3 Synonymous SNV T451T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.78 70209 chr1 3410935 3410935 G A rs113192826 MEGF6 Nonsynonymous SNV P1377S 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.002 70210 chr20 34092076 34092076 G A rs56259282 CEP250 Nonsynonymous SNV R1328Q 0.016 0.018 0.014 8 19 7 0.021 4 0 0 1 0 0.115 70211 chr20 34785938 34785938 A G rs144426436 EPB41L1 Nonsynonymous SNV K474R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign/Likely benign 4.369 70212 chr11 66359172 66359172 C T rs143106957 CCDC87 Nonsynonymous SNV V439I 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 7.56 70213 chr1 34554580 34554580 C T rs745833177 CSMD2 Synonymous SNV T134T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.549 70214 chr20 35506441 35506441 C T rs895769413 TLDC2 Nonsynonymous SNV A58V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.67 70215 chr1 23280205 23280205 G C rs562202016 LACTBL1 Nonsynonymous SNV D357E 0.008 0.005 0.003 8 9 2 0.021 1 0 0 0 0 20.5 70216 chr11 66360383 66360383 T G rs773858158 CCDC87 Nonsynonymous SNV Q35P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.117 70217 chr20 34541716 34541716 G C SCAND1 Nonsynonymous SNV A227G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 70218 chr1 232941344 232941344 C T rs139841953 MAP10 Nonsynonymous SNV P192L 0.009 0.016 0.003 5 10 6 0.013 1 0 0 0 0 23 70219 chr1 67845698 67845698 C T IL12RB2 Nonsynonymous SNV H497Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.094 70220 chr20 35281959 35281959 G T rs723887 NDRG3 Synonymous SNV V352V 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 5.148 70221 chr20 35467656 35467656 G A rs111283576 SOGA1 Synonymous SNV D292D 0.009 0.016 0.007 6 10 6 0.015 2 0 0 0 0 7.709 70222 chr11 67188466 67188466 C T rs77472930 CARNS1 Synonymous SNV L345L 0.026 0.023 0.017 6 30 9 0.015 5 1 1 0 0 22.3 70223 chr1 36859578 36859578 G A rs35805933 LSM10 Synonymous SNV N51N 0.017 0.016 0.014 6 20 6 0.015 4 0 0 0 0 9.681 70224 chr11 67374156 67374156 A G rs2514013 C11orf72 0 0 0.282 0 0 0 0 83 0 0 41 0 Benign 4.285 70225 chr1 235659569 235659569 C A B3GALNT2 Synonymous SNV S54S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.66 70226 chr1 235659572 235659572 G A B3GALNT2 Synonymous SNV V53V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.324 70227 chr1 77334268 77334268 G A rs114586767 ST6GALNAC5 Synonymous SNV E34E 0.018 0.026 0.014 9 21 10 0.023 4 0 0 0 0 13.16 70228 chr1 77334292 77334292 - CAGCAA rs201548881 ST6GALNAC5 Q49_A50insQQ 0.02 0.026 0.017 10 23 10 0.026 5 0 0 0 0 70229 chr11 17418559 17418559 T C rs1015735730 ABCC8 Synonymous SNV Q1341Q 0.003 0 0 0 3 0 0 0 0 0 0 0 1.113 70230 chr1 39494426 39494426 C T rs61734091 NDUFS5 Synonymous SNV F10F 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Benign 13.06 70231 chr1 27709112 27709112 T C rs140169689 CD164L2 Nonsynonymous SNV N45S 0.008 0.008 0.003 6 9 3 0.015 1 0 0 0 0 21.5 70232 chr1 78098003 78098003 A T rs41292270 ZZZ3 Nonsynonymous SNV M346K 0.025 0.031 0.024 14 29 12 0.036 7 0 0 0 0 0.023 70233 chr1 248685823 248685823 G A rs752978527 OR2G6 Synonymous SNV L292L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 7.534 70234 chr11 67812434 67812434 G A rs746196069 TCIRG1 Nonsynonymous SNV G128R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 70235 chr1 40315888 40315888 A T rs3738671 TRIT1 Nonsynonymous SNV F122L 0.043 0.057 0.058 22 51 22 0.056 17 2 0 0 0 9.548 70236 chr20 39974624 39974624 C T rs41277016 LPIN3 Nonsynonymous SNV R61W 0.012 0.013 0.02 6 14 5 0.015 6 0 0 0 0 32 70237 chr11 68029887 68029887 G A rs78911714 C11orf24 Synonymous SNV L192L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.838 70238 chr20 401657 401657 G A RBCK1 Nonsynonymous SNV C258Y 0 0.003 0 0 0 1 0 0 0 0 0 0 31 70239 chr11 68696783 68696783 C T rs35193202 IGHMBP2 Nonsynonymous SNV A398V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 70240 chr20 42694519 42694519 G A rs143301359 TOX2 Synonymous SNV T358T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 2.503 70241 chr11 68773021 68773021 T G MRGPRF Nonsynonymous SNV I253L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 70242 chr1 85018771 85018771 - A rs773955866 SPATA1 Frameshift insertion I430Nfs*17 0.001 0.003 0 0 1 1 0 0 0 0 0 0 70243 chr1 26156231 26156231 A G MTFR1L Nonsynonymous SNV D228G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.7 70244 chr1 237167516 237167516 C T rs201355027 MT1HL1 Nonsynonymous SNV A53T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.79 70245 chr11 70332231 70332231 - AATGGC rs756656381 SHANK2 P800_F801insLP 0 0 0.003 0 0 0 0 1 0 0 0 0 70246 chr1 86906000 86906000 G A rs150391383 CLCA2 Nonsynonymous SNV R458H 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 7.578 70247 chr1 3397062 3397062 G A rs56309807 ARHGEF16 Nonsynonymous SNV E681K 0.026 0.026 0.027 10 31 10 0.026 8 1 0 0 0 13.62 70248 chr20 44671875 44671875 C G rs16985442 SLC12A5 Nonsynonymous SNV P407A 0.036 0.034 0.031 13 42 13 0.033 9 1 0 0 0 Benign 8.674 70249 chr20 44673722 44673722 G A rs41282782 SLC12A5 Synonymous SNV T527T 0.037 0.036 0.024 14 44 14 0.036 7 0 0 0 0 Benign 13.43 70250 chr20 44596262 44596262 C T rs117802609 ZNF335 Nonsynonymous SNV A276T 0.011 0.013 0.003 6 13 5 0.015 1 0 0 0 0 Benign/Likely benign 0.422 70251 chr20 44698893 44698893 G A rs9653615 NCOA5 Synonymous SNV Y2Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.385 70252 chr11 7110920 7110920 A G RBMXL2 Nonsynonymous SNV Y190C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.781 70253 chr1 3422772 3422772 G A MEGF6 Synonymous SNV H606H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.475 70254 chr1 242121882 242121882 T C rs191909829 BECN2 Synonymous SNV L272L 0 0 0 2 0 0 0.005 0 0 0 0 0 5.519 70255 chr1 44058232 44058232 C T rs187519238 PTPRF Synonymous SNV G591G 0.002 0 0 0 2 0 0 0 0 0 0 0 18.45 70256 chr1 46049824 46049824 C A rs899170256 NASP Synonymous SNV A2A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 14.62 70257 chr1 2435900 2435900 C T rs371812903 PLCH2 Nonsynonymous SNV R1167C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.181 70258 chr20 45801400 45801400 A G EYA2 Synonymous SNV G361G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.133 70259 chr1 34662919 34662919 A C rs61741809 C1orf94 Nonsynonymous SNV E138D 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 0.007 70260 chr11 72408993 72408993 G A rs201317587 ARAP1 Synonymous SNV C594C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.652 70261 chr1 28060600 28060600 G A rs147811051 FAM76A Nonsynonymous SNV R87H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 70262 chr1 45189855 45189855 C A rs149200146 ARMH1 Synonymous SNV L262L 0.013 0.008 0.031 6 15 3 0.015 9 0 0 0 0 19.22 70263 chr11 73570972 73570972 C A MRPL48 Nonsynonymous SNV T131N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 70264 chr11 73688004 73688004 A G rs769405786 UCP2 Synonymous SNV A132A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.88 70265 chr1 35900599 35900599 A G rs377631618 KIAA0319L Nonsynonymous SNV W1016R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.4 70266 chr1 36026658 36026658 C T rs28655939 NCDN Synonymous SNV S285S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.32 70267 chr1 36181905 36181905 T C rs183543037 C1orf216 Synonymous SNV P6P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.605 70268 chr1 28786793 28786793 C T rs75590636 PHACTR4 Synonymous SNV D97D 0.016 0.01 0.02 3 19 4 0.008 6 0 0 0 0 11.91 70269 chr1 28793149 28793149 C G rs61748637 PHACTR4 Synonymous SNV P241P 0.049 0.036 0.034 14 58 14 0.036 10 1 0 0 1 4.381 70270 chr1 36558985 36558985 T G rs183554661 ADPRHL2 X364G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.059 70271 chr1 36785693 36785693 G A SH3D21 Nonsynonymous SNV D366N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.983 70272 chr1 31188019 31188019 T G rs56851503 MATN1 Nonsynonymous SNV K449Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 13.54 70273 chr20 51870080 51870082 AAG - rs552810975 TSHZ2 E31del 0.003 0.005 0 0 4 2 0 0 0 0 0 0 70274 chr20 51870111 51870111 A G rs148676748 TSHZ2 Synonymous SNV S35S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.005 70275 chr20 51871711 51871711 A G rs148033386 TSHZ2 Nonsynonymous SNV T569A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.002 70276 chr11 76400141 76400141 G A rs117008093 GUCY2EP 0 0 0.034 0 0 0 0 10 0 0 1 0 1.185 70277 chr20 52789902 52789902 T A rs201820243 CYP24A1 Nonsynonymous SNV I73F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.8 70278 chr20 51872460 51872460 G A rs45564637 TSHZ2 Synonymous SNV L818L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.185 70279 chr11 76430572 76430572 C T rs11600956 GUCY2EP 0 0 0.224 0 0 0 0 66 0 0 10 0 3.735 70280 chr1 92181805 92181805 G A TGFBR3 Synonymous SNV H617H 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 2.596 70281 chr11 7674811 7674811 C A rs541967553 PPFIBP2 Nonsynonymous SNV P821T 0 0 0.007 0 0 0 0 2 0 0 0 0 3.793 70282 chr1 47717399 47717399 G A rs147478467 STIL Synonymous SNV D1092D 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Likely benign 6.087 70283 chr1 53547800 53547800 A G rs6687909 PODN Synonymous SNV E603E 0.016 0.026 0.017 5 19 10 0.013 5 0 0 1 0 1.465 70284 chr1 53556532 53556532 G A rs2306461 SLC1A7 Synonymous SNV G385G 0.016 0.021 0.01 5 19 8 0.013 3 0 0 0 0 4.05 70285 chr1 54534492 54534492 A G rs144986013 TCEANC2 Nonsynonymous SNV K56E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.17 70286 chr1 48231730 48231730 C T rs762708564 TRABD2B Synonymous SNV S466S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 70287 chr20 58318181 58318181 C T rs139461264 PHACTR3 Synonymous SNV P43P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.082 70288 chr1 51061835 51061835 T C rs749026152 FAF1 Synonymous SNV G266G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.98 70289 chr1 40627108 40627108 G A RLF Nonsynonymous SNV G13R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.7 70290 chr11 77921247 77921247 C T rs61760229 USP35 Synonymous SNV C782C 0.031 0.013 0.02 0 36 5 0 6 0 0 0 0 Benign 9.118 70291 chr20 58646158 58646158 T C C20orf197 0 0.003 0 0 0 1 0 0 0 0 0 0 0.292 70292 chr20 58476811 58476811 C T rs45441401 SYCP2 Nonsynonymous SNV S363N 0.004 0.016 0.003 5 5 6 0.013 1 0 0 0 0 12.79 70293 chr1 52826789 52826789 C T rs150825231 CC2D1B Nonsynonymous SNV V112I 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 26.8 70294 chr1 9784916 9784916 C T rs143168081 PIK3CD Synonymous SNV L944L 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 Benign 16.65 70295 chr1 981243 981243 G A rs144205055 AGRN Synonymous SNV A889A 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Likely benign 7.411 70296 chr11 79133220 79133220 T C rs11237828 MIR5579 0 0 0.139 0 0 0 0 41 0 0 5 0 1.666 70297 chr1 55266306 55266306 G A rs149315920 TTC22 Synonymous SNV I177I 0.003 0.01 0 0 4 4 0 0 0 0 0 0 14.92 70298 chr1 55271845 55271845 C T rs72895754 LEXM Nonsynonymous SNV T19M 0.003 0.01 0 0 3 4 0 0 0 0 0 0 2.103 70299 chr1 3647534 3647534 C T rs150268231 TP73 Nonsynonymous SNV R365W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 70300 chr20 5958554 5958554 T C MCM8 Synonymous SNV Y429Y 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 0.227 70301 chr1 55280690 55280690 G A rs75191355 LEXM Nonsynonymous SNV C343Y 0.003 0.01 0 0 4 4 0 0 0 0 0 0 0.001 70302 chr1 55452036 55452036 A G rs56889206 TMEM61 Synonymous SNV P94P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.072 70303 chr1 54060136 54060136 T A rs765206704 GLIS1 Nonsynonymous SNV Q147L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 70304 chr20 1293141 1293141 C T rs35367003 SDCBP2 Nonsynonymous SNV R106Q 0.032 0.029 0.031 10 37 11 0.026 9 3 0 0 0 35 70305 chr1 59147871 59147871 T C MYSM1 Nonsynonymous SNV N282S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 70306 chr1 60309235 60309235 A G rs777330903 HOOK1 Synonymous SNV Q251Q 0.003 0 0 0 4 0 0 0 0 0 0 0 3.806 70307 chr1 38149082 38149082 C T rs372210126 C1orf109 Nonsynonymous SNV V226I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.1 70308 chr20 14307024 14307024 C T rs8120693 FLRT3 Nonsynonymous SNV A377T 0.008 0.018 0 0 9 7 0 0 1 0 0 0 Likely benign 9.749 70309 chr20 60926828 60926828 G A rs62204553 LAMA5 Synonymous SNV I296I 0.028 0.036 0.034 8 33 14 0.021 10 1 1 1 0 9.13 70310 chr11 86382955 86382955 A C ME3 Nonsynonymous SNV L11R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.355 70311 chr1 39838200 39838200 A G rs148069432 MACF1 Nonsynonymous SNV N2320S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 18.44 70312 chr20 61162228 61162228 C T rs199563235 MIR1-1HG Nonsynonymous SNV P14L 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 13.67 70313 chr1 57399053 57399053 A C C8B Nonsynonymous SNV C503G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 70314 chr20 61512149 61512149 T C rs543372002 DIDO1 Nonsynonymous SNV E1720G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.86 70315 chr1 26075769 26075769 G A rs146745645 MAN1C1 Synonymous SNV E259E 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 11.88 70316 chr20 61867626 61867626 C T rs41282996 BIRC7 Nonsynonymous SNV R60W 0.01 0.016 0.003 3 12 6 0.008 1 0 0 0 0 25.8 70317 chr1 40928552 40928552 G A rs143880922 ZFP69B Nonsynonymous SNV R299K 0.011 0.01 0.01 2 13 4 0.005 3 0 0 0 0 Likely benign 27.5 70318 chr1 62330052 62330052 T G rs754820374 PATJ Nonsynonymous SNV L861W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 70319 chr20 61912659 61912659 C T ARFGAP1 Nonsynonymous SNV T162I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 70320 chr1 62970348 62970348 T C rs376119113 DOCK7 Nonsynonymous SNV S1533G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Uncertain significance 23.3 70321 chr20 61943089 61943089 G A rs6089877 COL20A1 Nonsynonymous SNV R551H 0.014 0.01 0 6 17 4 0.015 0 0 0 0 0 0.119 70322 chr20 61944193 61944193 T C rs4809530 COL20A1 Synonymous SNV D661D 0.069 0.078 0.071 20 81 30 0.051 21 1 0 1 1 0.011 70323 chr1 63067483 63067483 T C rs754658074 ANGPTL3 Synonymous SNV H255H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.003 70324 chr20 61945439 61945439 G C rs147670144 COL20A1 Nonsynonymous SNV A792P 0.071 0.078 0.071 22 83 30 0.056 21 1 0 1 1 6.476 70325 chr20 17950661 17950661 T C MGME1 Synonymous SNV S53S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.287 70326 chr20 61943325 61943325 G A rs73329169 COL20A1 Nonsynonymous SNV R574Q 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 10.89 70327 chr20 18143184 18143184 C T rs145314764 KAT14 Synonymous SNV D422D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.797 70328 chr20 61444693 61444693 G A rs35813009 OGFR Nonsynonymous SNV E576K 0.015 0.008 0.037 4 18 3 0.01 11 5 1 4 1 2.451 70329 chr20 61444697 61444697 G C rs6122315 OGFR Nonsynonymous SNV S577T 0.014 0.008 0.037 4 17 3 0.01 11 5 1 4 1 0.042 70330 chr20 62126299 62126299 C T rs2274860 EEF1A2 Synonymous SNV P160P 0.085 0.057 0.129 43 100 22 0.11 38 9 1 2 0 Benign 15.71 70331 chr11 93402933 93402933 T G CEP295 Nonsynonymous SNV F175L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 70332 chr1 27320304 27320304 C A TRNP1 Stop gain C9X 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 36 70333 chr20 18432543 18432543 T C rs200927912 DZANK1 Synonymous SNV P52P 0 0.01 0.003 0 0 4 0 1 0 0 0 0 0.645 70334 chr1 27333209 27333209 T C rs145345359 TENT5B Synonymous SNV T168T 0.009 0.005 0.007 13 11 2 0.033 2 0 0 0 2 0.146 70335 chr11 93463726 93463726 - AG rs34898352 SNORA25 0 0 0.449 0 0 0 0 132 0 0 37 0 70336 chr1 42846647 42846647 C T rs754019330 RIMKLA Synonymous SNV R14R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 70337 chr1 52821892 52821892 G A rs141717834 CC2D1B Nonsynonymous SNV H674Y 0.016 0.016 0.003 5 19 6 0.013 1 0 1 0 0 Likely benign 21.9 70338 chr1 43688508 43688508 - CAC rs549638533 CFAP57 V849_R850insT 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 70339 chr20 20071521 20071521 T A rs111472581 CFAP61 Nonsynonymous SNV F200L 0.022 0.029 0.017 10 26 11 0.026 5 1 0 0 0 4.968 70340 chr1 65142607 65142607 C T rs771998948 CACHD1 Nonsynonymous SNV P706L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 70341 chr20 62729431 62729431 C T rs2229205 OPRL1 Synonymous SNV V165V 0.141 0.13 0.126 42 165 50 0.108 37 14 4 1 2 7.727 70342 chr12 10048327 10048327 C T rs114504560 KLRF2 Synonymous SNV A173A 0.026 0.036 0.027 15 31 14 0.038 8 1 0 0 0 16.85 70343 chr12 100731273 100731273 A G rs140190649 SCYL2 Nonsynonymous SNV T712A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.207 70344 chr12 10074776 10074776 C T rs61747889 CLEC2A Synonymous SNV V65V 0.022 0.031 0.02 10 26 12 0.026 6 0 2 0 1 6.121 70345 chr1 32137256 32137256 G A rs746260551 COL16A1 Nonsynonymous SNV P1037L 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 23.5 70346 chr1 55076155 55076155 G A rs17110827 FAM151A Synonymous SNV D338D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 1.119 70347 chr1 44877782 44877782 C T rs776651188 RNF220 Nonsynonymous SNV R5W 0.005 0 0 0 6 0 0 0 0 0 0 0 33 70348 chr20 644325 644325 G A SCRT2 Nonsynonymous SNV P305L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 70349 chr1 45500046 45500046 G A rs148474456 ZSWIM5 Nonsynonymous SNV T796M 0.003 0 0 2 4 0 0.005 0 0 0 0 1 25 70350 chr20 24938072 24938072 C T rs776420168 CST7 Nonsynonymous SNV R74C 0.004 0.008 0 0 5 3 0 0 0 0 0 0 15.99 70351 chr1 6637056 6637056 G A rs35118458 TAS1R1 Nonsynonymous SNV R253Q 0.02 0.01 0.02 9 24 4 0.023 6 0 0 0 0 24.2 70352 chr1 46073519 46073519 C T rs770852530 NASP Synonymous SNV D248D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.454 70353 chr1 6659445 6659445 C T rs2232461 KLHL21 Synonymous SNV A363A 0.014 0.005 0.014 6 17 2 0.015 4 0 0 0 0 12.26 70354 chr1 55247346 55247346 A T rs924842765 TTC22 Nonsynonymous SNV L427Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 21.7 70355 chr12 101763659 101763659 A G rs149603349 UTP20 Nonsynonymous SNV N2182S 0 0 0.007 0 0 0 0 2 0 0 0 0 4.92 70356 chr1 33235789 33235789 C T rs41306613 KIAA1522 Nonsynonymous SNV P278S 0.025 0.042 0.037 13 29 16 0.033 11 0 1 1 0 7.895 70357 chr1 46972694 46972694 C T rs12567122 DMBX1 Synonymous SNV Y4Y 0.014 0.005 0.017 5 16 2 0.013 5 1 0 0 0 12.71 70358 chr1 7887262 7887262 G A rs140974114 PER3 Nonsynonymous SNV S758N 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Benign 22.7 70359 chr1 78958451 78958451 A T rs41292960 PTGFR Nonsynonymous SNV Q8L 0.009 0.013 0.02 5 10 5 0.013 6 0 0 0 0 Benign 11.44 70360 chr1 47139039 47139039 C T rs200092801 TEX38 Nonsynonymous SNV P178S 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 0.562 70361 chr21 27840918 27840918 C T CYYR1 Nonsynonymous SNV E124K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.24 70362 chr12 104100710 104100710 C T rs148549353 STAB2 Synonymous SNV S1379S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.17 70363 chr1 70897864 70897864 G T rs756778434 CTH Nonsynonymous SNV A243S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 70364 chr1 33960746 33960746 G A ZSCAN20 Synonymous SNV V934V 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 8.588 70365 chr1 47427294 47427294 G - rs770286448 CYP4X1 Q15Sfs*2 0.006 0 0.003 0 7 0 0 1 0 0 0 0 70366 chr12 104251010 104251010 T C TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.635 70367 chr1 6189058 6189058 C T rs140567383 CHD5 Synonymous SNV S1153S 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 16.66 70368 chr20 31017736 31017736 G A rs368981019 ASXL1 Nonsynonymous SNV G200S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 70369 chr21 31692339 31692339 G T rs139433635 KRTAP26-1 Nonsynonymous SNV N5K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 70370 chr21 31988796 31988796 A T rs116971075 KRTAP20-1 Nonsynonymous SNV Y8F 0.058 0.047 0.058 17 68 18 0.044 17 3 1 0 1 0.104 70371 chr1 53377426 53377426 C T rs768996501 ECHDC2 Nonsynonymous SNV R53H 0.004 0 0 0 5 0 0 0 0 0 0 0 34 70372 chr12 10748314 10748314 C T rs2168749 KLRA1P 0 0 0.276 0 0 0 0 81 0 0 20 0 5.383 70373 chr12 10748403 10748403 A T rs2682484 KLRA1P 0 0 0.684 0 0 0 0 201 0 0 80 0 1.964 70374 chr1 53974853 53974853 C T rs146608107 GLIS1 Nonsynonymous SNV G549S 0.016 0.008 0.01 4 19 3 0.01 3 0 0 0 0 13.66 70375 chr1 54060082 54060082 G A rs36070063 GLIS1 Nonsynonymous SNV P165L 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 32 70376 chr20 32211070 32211070 G A rs143525698 CBFA2T2 Synonymous SNV V220V 0.009 0.008 0 0 11 3 0 0 0 0 0 0 3.428 70377 chr1 3807334 3807334 C T rs962003600 C1orf174 Synonymous SNV L139L 0 0 0 4 0 0 0.01 0 0 0 0 0 10.38 70378 chr1 8526071 8526071 C T rs144174535 RERE Nonsynonymous SNV G373S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 16.26 70379 chr21 33711077 33711077 C T rs58130645 URB1 Synonymous SNV S1483S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Benign 13.44 70380 chr1 85592353 85592353 A C rs149344322 WDR63 Nonsynonymous SNV I719L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.7 70381 chr1 874778 874778 - CCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA SAMD11 H235_D236insGEDPPWHDPPHHLPSH 0.01 0 0 6 12 0 0.015 0 0 0 0 0 70382 chr21 34003786 34003786 C T rs61750217 SYNJ1 Nonsynonymous SNV G1367E 0.028 0.029 0.02 12 33 11 0.031 6 0 0 0 0 Benign 29.6 70383 chr21 34067499 34067499 T C rs61756694 SYNJ1 Synonymous SNV T191T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 0.14 70384 chr20 33577915 33577915 G A rs191389090 MYH7B Synonymous SNV A664A 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 10.21 70385 chr20 33862265 33862265 G A rs182077926 MMP24 Synonymous SNV P597P 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 1.127 70386 chr20 33872191 33872191 A G rs144868364 EIF6 Nonsynonymous SNV F34L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 70387 chr12 109936145 109936145 G A rs769441257 UBE3B Synonymous SNV T309T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.36 70388 chr11 56143957 56143957 T C rs201702486 OR8U1, OR8U8 Synonymous SNV N286N 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.009 70389 chr1 65243466 65243466 A G rs41285400 RAVER2 Synonymous SNV E159E 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 6.283 70390 chr21 38309150 38309150 G A HLCS Nonsynonymous SNV H346Y 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 18.71 70391 chr1 90179584 90179584 G A rs139410920 LRRC8C Synonymous SNV A485A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.115 70392 chr1 57378253 57378253 C T rs202001060 C8A Nonsynonymous SNV R520C 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 27.2 70393 chr1 5927169 5927169 G A rs113445782 NPHP4 Nonsynonymous SNV P648L 0.023 0.018 0.034 8 27 7 0.021 10 1 0 0 0 Conflicting interpretations of pathogenicity 0.334 70394 chr12 111652021 111652021 C T rs190091435 CUX2 Synonymous SNV V27V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.21 70395 chr20 36954724 36954724 C T rs5743523 BPI Nonsynonymous SNV P351S 0.013 0.005 0.01 1 15 2 0.003 3 0 0 0 0 23.6 70396 chr20 36956026 36956026 A G rs5741809 BPI Nonsynonymous SNV N400D 0.026 0.013 0.02 8 30 5 0.021 6 0 0 0 0 0.001 70397 chr21 37572667 37572667 C T rs201491075 DOP1B Nonsynonymous SNV S120L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 34 70398 chr12 112338256 112338259 AAAA - rs532769074 ADAM1A 0 0 0.014 0 0 0 0 4 0 0 0 0 70399 chr12 112486101 112486101 T G NAA25 Synonymous SNV A625A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.058 70400 chr12 112638486 112638486 G T rs61739678 HECTD4 Synonymous SNV T2851T 0.009 0.005 0.014 4 10 2 0.01 4 0 0 0 0 7.294 70401 chr20 37182616 37182616 C A rs372998383 RALGAPB Nonsynonymous SNV P1090H 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 32 70402 chr1 67666524 67666524 C T rs143130647 IL23R Nonsynonymous SNV A199V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.282 70403 chr20 37667148 37667148 T C rs146274322 DHX35 Nonsynonymous SNV S661P 0.016 0.029 0.017 1 19 11 0.003 5 0 0 0 0 23.1 70404 chr1 67685413 67685413 G A rs760405559 IL23R Nonsynonymous SNV V319I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.58 70405 chr12 113543542 113543542 A G rs142556970 RASAL1 Nonsynonymous SNV F602L 0.015 0.016 0.01 3 18 6 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 70406 chr1 67724312 67724312 C T rs138098976 IL23R Nonsynonymous SNV P464L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.06 70407 chr1 92979432 92979432 G A rs41286809 EVI5 Synonymous SNV F738F 0.019 0.013 0.027 1 22 5 0.003 8 0 0 0 0 11.45 70408 chr20 3766885 3766885 G A rs140023764 CENPB Synonymous SNV I82I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.23 70409 chr12 113874590 113874590 G A rs117939250 SDSL Nonsynonymous SNV A236T 0.006 0.01 0.01 7 7 4 0.018 3 0 0 0 0 15.93 70410 chr20 39801128 39801128 C T rs33943601 PLCG1 Synonymous SNV Y991Y 0.017 0.018 0.02 7 20 7 0.018 6 0 0 0 0 13.18 70411 chr12 115120835 115120835 C T rs201388921 TBX3 Synonymous SNV P57P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 15.77 70412 chr1 43240998 43240998 C T rs11548275 C1orf50 Nonsynonymous SNV T178M 0.003 0.005 0.014 9 4 2 0.023 4 0 0 0 0 27 70413 chr12 119968835 119968835 A G rs753430230 CCDC60 Synonymous SNV E506E 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 3.053 70414 chr1 43804340 43804340 G A rs12731981 MPL Nonsynonymous SNV V114M 0.049 0.039 0.024 14 57 15 0.036 7 0 0 1 0 Benign/Likely benign 5.142 70415 chr21 43362295 43362295 C T rs61731656 C2CD2 Synonymous SNV V113V 0.04 0.068 0.037 16 47 26 0.041 11 0 0 1 0 7.507 70416 chr12 120651685 120651685 G T PXN Nonsynonymous SNV A504D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 70417 chr12 120652725 120652725 C T rs111674215 PXN Nonsynonymous SNV R408Q 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 24.5 70418 chr21 43505436 43505436 G A rs73371577 UMODL1 Nonsynonymous SNV V173I 0.032 0.052 0.02 18 37 20 0.046 6 0 1 0 0 23.9 70419 chr21 42879910 42879910 C G rs200291871 TMPRSS2 Nonsynonymous SNV G8R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 14.18 70420 chr1 984427 984427 G A rs756082014 AGRN Nonsynonymous SNV R1429H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 3.699 70421 chr1 66064368 66064368 C A rs150605826 LEPR Nonsynonymous SNV S292Y 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 25.5 70422 chr21 43161469 43161469 G A rs55812846 RIPK4 Synonymous SNV S628S 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 Benign/Likely benign 0.17 70423 chr12 121079084 121079084 C G CABP1 Nonsynonymous SNV S199C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 70424 chr21 43531423 43531437 CTCCAGCCAGGGGAG - UMODL1 S626_S630del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 70425 chr1 7890153 7890153 C T rs144178755 PER3 Nonsynonymous SNV T1049I 0.011 0.008 0.01 6 13 3 0.015 3 0 0 0 0 Likely benign 7.521 70426 chr21 43541261 43541261 C A rs200700743 UMODL1 Synonymous SNV L974L 0.006 0.013 0.003 0 7 5 0 1 1 0 0 0 14.55 70427 chr1 79101171 79101171 T A rs115901054 IFI44L Stop gain Y291X 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 35 70428 chr1 82435071 82435071 G A rs142281401 ADGRL2 Synonymous SNV A894A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 12.87 70429 chr1 82456182 82456182 G A rs138336807 ADGRL2 Nonsynonymous SNV V1189M 0.006 0.003 0 0 7 1 0 0 0 0 0 0 2.225 70430 chr20 44523715 44523715 C T rs368108194 CTSA Nonsynonymous SNV P345L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 22.3 70431 chr11 58391584 58391584 G C rs147908441 CNTF Nonsynonymous SNV W64C 0.006 0.005 0 0 7 2 0 0 0 0 0 0 28.1 70432 chr1 97915624 97915624 A G rs17376848 DPYD Synonymous SNV F632F 0.014 0.018 0.02 8 17 7 0.021 6 0 0 0 0 Benign 0.005 70433 chr1 71418662 71418662 G - rs568967213 PTGER3 N395Kfs*9 0.01 0.003 0.017 9 12 1 0.023 5 0 0 0 0 70434 chr21 43833228 43833228 C A rs145749877 UBASH3A Synonymous SNV L150L 0.01 0.01 0.017 4 12 4 0.01 5 0 0 0 0 12.38 70435 chr11 59857209 59857209 C T rs199688918 MS4A2 Nonsynonymous SNV S34F 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 13.12 70436 chr1 85733349 85733349 C T rs754361373 BCL10 Nonsynonymous SNV M210I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 70437 chr21 45845596 45845622 CAGGAAGAAGACGGAGGAGCCGGGCGA - rs547070705 TRPM2 R1228_D1236del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 70438 chr1 86590578 86590578 T C rs10493784 COL24A1 Nonsynonymous SNV M481V 0.012 0.005 0.01 0 14 2 0 3 0 0 0 0 0.002 70439 chr1 74948951 74948951 A G rs540421066 LRRC53 Nonsynonymous SNV I28T 0.007 0 0.003 8 8 0 0.021 1 0 0 0 0 25 70440 chr11 60268639 60268639 T C MS4A12 Nonsynonymous SNV F133S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 70441 chr12 123481907 123481907 C T rs369888747 PITPNM2 Synonymous SNV P479P 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 17.03 70442 chr1 75078423 75078423 C T rs150709786 ERICH3 Nonsynonymous SNV M357I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.07 70443 chr1 51868160 51868160 C G rs34957183 EPS15 Nonsynonymous SNV G296A 0.006 0.008 0.027 5 7 3 0.013 8 0 0 0 0 13.13 70444 chr12 124101347 124101347 G C rs6488883 SNORA9B 0 0 0.371 0 0 0 0 109 0 0 28 0 4.147 70445 chr20 17608254 17608254 C T rs773778530 RRBP1 Synonymous SNV G941G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 70446 chr20 13740436 13740438 TTC - ESF1 E577del 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 70447 chr1 78047748 78047748 A G ZZZ3 Nonsynonymous SNV Y76H 0.007 0 0 8 8 0 0.021 0 0 0 0 0 24.4 70448 chr21 45820196 45820196 C T rs35288229 TRPM2 Nonsynonymous SNV R755C 0.042 0.036 0.014 21 49 14 0.054 4 0 0 0 0 26.6 70449 chr21 45987884 45987884 G A rs138759270 TSPEAR Nonsynonymous SNV R30C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 70450 chr1 54518725 54518725 G A rs41294776 TMEM59 Nonsynonymous SNV A46V 0.028 0.023 0.02 11 33 9 0.028 6 0 0 0 0 21.9 70451 chr20 15918132 15918132 A G rs566607934 MACROD2 Nonsynonymous SNV T49A 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 3.474 70452 chr21 46074436 46074436 C T rs145544560 KRTAP12-4 Synonymous SNV G32G 0.008 0.01 0.01 0 9 4 0 3 0 0 0 0 6.862 70453 chr1 55139709 55139709 G A rs201615929 MROH7 Synonymous SNV A125A 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 14.45 70454 chr21 46898195 46898195 C T rs745677311 MIR6815 0 0.003 0 0 0 1 0 0 0 0 0 0 5.87 70455 chr1 85016124 85016124 A G rs778287169 SPATA1 Nonsynonymous SNV I379V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.755 70456 chr1 55248009 55248009 C T rs767079078 TTC22 Nonsynonymous SNV D388N 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 22.5 70457 chr1 55253433 55253433 C T rs146222875 TTC22 Synonymous SNV T230T 0.017 0.023 0.01 6 20 9 0.015 3 0 0 0 0 11.08 70458 chr12 12982392 12982392 G A rs147480150 DDX47 Synonymous SNV S375S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 9.933 70459 chr20 18162481 18162481 C G rs11557577 KAT14 Nonsynonymous SNV P600R 0.049 0.052 0.051 19 58 20 0.049 15 4 0 0 3 31 70460 chr20 56793724 56793724 G A rs41275658 ANKRD60 Nonsynonymous SNV P289S 0.016 0.01 0.017 8 19 4 0.021 5 0 1 0 0 25.9 70461 chr12 13061396 13061396 C T rs752753666 GPRC5A Synonymous SNV F71F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 70462 chr11 62295437 62295437 A C rs201391281 AHNAK Nonsynonymous SNV V2151G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 70463 chr21 47856053 47856053 C T rs61735826 PCNT Synonymous SNV A2799A 0.024 0.031 0.024 10 28 12 0.026 7 0 0 0 1 Benign/Likely benign 14.54 70464 chr20 57428948 57428948 G T rs61749696 GNAS Nonsynonymous SNV R147S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.819 70465 chr12 131323639 131323639 C G rs11061163 STX2 Synonymous SNV R2R 0.003 0 0.037 3 4 0 0.008 11 0 0 3 1 15.59 70466 chr12 13153388 13153388 - GCAGCAGTGCAGCAGT rs147879664 HTR7P1 0 0 0.078 0 0 0 0 23 0 0 6 0 70467 chr1 91405699 91405699 G A rs41286763 ZNF644 Synonymous SNV T404T 0.018 0.008 0.034 7 21 3 0.018 10 0 0 0 0 5.542 70468 chr21 47700029 47700029 G A rs748144429 MCM3AP Synonymous SNV S515S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 12.37 70469 chr20 20493550 20493550 T C rs45484900 RALGAPA2 Nonsynonymous SNV N1488S 0.02 0.042 0.048 12 24 16 0.031 14 0 0 0 0 0.001 70470 chr20 20512378 20512378 G C rs201205382 RALGAPA2 Nonsynonymous SNV H1179D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 70471 chr20 2083432 2083432 G A rs561044658 STK35 Nonsynonymous SNV A105T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 25.1 70472 chr12 132635581 132635581 C T rs77081180 NOC4L Synonymous SNV H319H 0.003 0.003 0.01 0 4 1 0 3 0 0 1 0 8.627 70473 chr20 60706439 60706439 A G LSM14B Nonsynonymous SNV K288R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.43 70474 chr20 23016750 23016750 C A rs4988472 SSTR4 Synonymous SNV V210V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 13.75 70475 chr1 92946037 92946037 G A rs114487177 GFI1 Synonymous SNV F264F 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 Benign 10.23 70476 chr1 89613326 89613326 C A rs186580098 GBP7 Nonsynonymous SNV G430V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25 70477 chr20 23375624 23375624 T C rs117825139 NAPB Nonsynonymous SNV I80V 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 23.1 70478 chr1 89657066 89657066 T C rs201411513 GBP4 Nonsynonymous SNV D265G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.62 70479 chr12 133697649 133697649 T G rs770421505 ZNF891 Nonsynonymous SNV N286H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 70480 chr22 19752609 19752609 C T rs61730282 TBX1 Synonymous SNV T271T 0.013 0.01 0.003 0 15 4 0 1 0 0 0 0 Benign/Likely benign 10.1 70481 chr22 19950268 19950268 G A rs740602 COMT Synonymous SNV Q23Q 0.025 0.029 0.007 5 29 11 0.013 2 0 0 0 0 drug response 9.627 70482 chr20 25062560 25062560 G A rs369865672 VSX1 Nonsynonymous SNV P58L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.47 70483 chr20 25187724 25187724 G A rs45506395 ENTPD6 Nonsynonymous SNV G6S 0.02 0.016 0.024 10 23 6 0.026 7 0 0 0 0 6.6 70484 chr20 25255338 25255338 C T rs2227894 PYGB Synonymous SNV G213G 0.074 0.07 0.071 21 87 27 0.054 21 3 0 0 0 14.73 70485 chr1 6305201 6305201 A C rs188463518 HES3 Nonsynonymous SNV Q65H 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 13.41 70486 chr20 25275621 25275621 T C rs73598373 ABHD12 Synonymous SNV S401S 0.066 0.055 0.065 23 78 21 0.059 19 3 0 0 0 0.307 70487 chr20 23334735 23334735 G A rs34105430 NXT1 Synonymous SNV E19E 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 9.571 70488 chr22 18314678 18314678 - TCC rs374621205 MICAL3 E1000_Y1001insE 0 0.005 0 1 0 2 0.003 0 0 0 0 0 70489 chr20 25456698 25456698 C T rs35666277 NINL Nonsynonymous SNV D1077N 0.06 0.055 0.061 21 71 21 0.054 18 3 0 0 0 11.54 70490 chr12 16529059 16529059 C T rs763871095 MGST1 Synonymous SNV I75I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.33 70491 chr20 61341172 61341172 T C rs142371314 NTSR1 Nonsynonymous SNV F205L 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 22.9 70492 chr12 2039741 2039741 C A rs2470400 LINC00940 0 0 0.167 0 0 0 0 49 0 0 12 0 7.915 70493 chr22 21989142 21989142 G A rs35113423 CCDC116 Nonsynonymous SNV E264K 0.004 0.01 0.014 3 5 4 0.008 4 0 0 0 0 23.6 70494 chr20 61470065 61470065 G A rs142792529 COL9A3 Nonsynonymous SNV A606T 0.009 0.01 0.01 4 11 4 0.01 3 0 0 0 0 Benign 16.17 70495 chr12 21008080 21008080 - AATTG rs558592800 SLCO1B3, SLCO1B3-SLCO1B7 Frameshift insertion D42Efs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 70496 chr22 21989621 21989621 C T rs2236642 CCDC116 Synonymous SNV D423D 0.009 0.01 0.017 6 10 4 0.015 5 0 0 0 0 6.623 70497 chr22 21990823 21990823 G A rs11705259 CCDC116 Nonsynonymous SNV A436T 0.004 0.01 0.014 3 5 4 0.008 4 0 0 0 0 0.202 70498 chr22 21991120 21991120 G A rs11705317 CCDC116 Nonsynonymous SNV A535T 0.004 0.01 0.014 3 5 4 0.008 4 0 0 0 0 0.006 70499 chr12 21457434 21457434 T G rs11568563 SLCO1A2 Nonsynonymous SNV E172D 0.037 0.047 0.02 14 44 18 0.036 6 0 1 0 0 25.9 70500 chr12 21695439 21695439 T C rs61733199 GYS2 Nonsynonymous SNV T546A 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 Benign 9.68 70501 chr20 61907982 61907982 C T rs11542296 ARFGAP1 Nonsynonymous SNV P28L 0.061 0.065 0.068 24 72 25 0.062 20 1 0 2 0 20.8 70502 chr20 1187627 1187627 G A rs78087104 C20orf202 Nonsynonymous SNV G84R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 70503 chr22 21081620 21081620 C A rs138429041 PI4KA Synonymous SNV A1582A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 70504 chr12 24365358 24365362 GTTGT - rs66686007 MIR920 0 0 0.071 0 0 0 0 21 0 0 0 0 70505 chr1 9322376 9322376 C T rs140631516 H6PD Nonsynonymous SNV P346L 0.01 0.003 0.014 0 12 1 0 4 0 0 0 0 Likely benign 34 70506 chr20 2816807 2816807 G A rs148521607 PCED1A Nonsynonymous SNV S281L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.15 70507 chr20 31647807 31647807 C G rs149445561 BPIFB3 Nonsynonymous SNV T166R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 70508 chr12 252411 252411 T C rs4980847 LOC574538 0 0 0.034 0 0 0 0 10 0 0 5 0 3.538 70509 chr12 25261759 25261759 - AAA rs529076651 CASC1 0 0 0.007 0 0 0 0 2 0 0 1 0 70510 chr1 93680440 93680440 A G rs201753869 CCDC18 Nonsynonymous SNV M545V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 70511 chr20 307249 307249 G A rs532036846 SOX12 Synonymous SNV P227P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.145 70512 chr12 26275258 26275258 G C BHLHE41 Nonsynonymous SNV A397G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 70513 chr20 1459246 1459246 C T rs6033876 SIRPB2 Nonsynonymous SNV G153E 0.013 0.016 0.024 3 15 6 0.008 7 1 0 0 0 2.109 70514 chr1 70625069 70625069 T C rs17266340 LRRC40 Synonymous SNV P388P 0.015 0.008 0.01 3 18 3 0.008 3 1 0 0 0 7.36 70515 chr20 33297881 33297881 C G rs766846796 TP53INP2 Nonsynonymous SNV R145G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 70516 chr20 33338276 33338276 G A rs202126098 NCOA6 Synonymous SNV H574H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.464 70517 chr22 22868767 22868767 G A rs61729658 ZNF280A Synonymous SNV C396C 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.959 70518 chr11 65403026 65403026 G A PCNX3 Synonymous SNV L1737L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.79 70519 chr11 65413817 65413817 A C rs139394264 SIPA1 Synonymous SNV A463A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.004 70520 chr22 24452753 24452753 C T rs538491465 CABIN1 Stop gain R348X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 40 70521 chr1 98039437 98039437 C T rs61622928 DPYD Nonsynonymous SNV M406I 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 17.28 70522 chr1 984669 984669 C T rs144620006 AGRN Nonsynonymous SNV P1451L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign/Likely benign 6.907 70523 chr11 65647351 65647358 GCCTCCTG - rs532284219 CTSW L10Pfs*15 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 70524 chr1 76198584 76198585 AC - rs1057516428 ACADM I55Sfs*13 0.002 0 0 2 2 0 0.005 0 0 0 0 0 70525 chr20 62608682 62608682 G A SAMD10 Nonsynonymous SNV R57W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 70526 chr20 62642781 62642781 G A rs111366685 PRPF6 Synonymous SNV V483V 0.007 0.016 0.003 4 8 6 0.01 1 0 0 0 0 Benign 13.46 70527 chr20 62863580 62863580 C T rs41279352 MYT1 Synonymous SNV S913S 0.041 0.052 0.051 12 48 20 0.031 15 0 0 0 0 14.01 70528 chr20 35835700 35835700 G A rs373475376 RPN2 Nonsynonymous SNV A82T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.859 70529 chr20 33586174 33586174 G A rs199813555 MYH7B Nonsynonymous SNV R1317Q 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Uncertain significance 28.9 70530 chr20 35860770 35860770 G A rs150024301 RPN2 Synonymous SNV S394S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.57 70531 chr11 66103481 66103481 C T rs140145986 RIN1 Nonsynonymous SNV A51T 0.024 0.01 0.017 7 28 4 0.018 5 0 0 0 0 24.7 70532 chr22 24921714 24921714 C T rs138691259 UPB1 Synonymous SNV L369L 0.009 0.008 0.014 1 10 3 0.003 4 0 0 0 0 Benign/Likely benign 9.954 70533 chr12 3409384 3409386 TTT - rs398055265 LOC100128253 0 0 0.398 0 0 0 0 117 0 0 49 0 70534 chr20 13107303 13107303 G A rs201574383 SPTLC3 Synonymous SNV P406P 0.003 0 0 0 4 0 0 0 0 0 0 0 11.47 70535 chr22 29196306 29196306 G A rs2228260 XBP1 Synonymous SNV P69P 0.015 0.021 0.003 5 18 8 0.013 1 0 1 0 0 16.6 70536 chr1 85036299 85036299 G A rs369045608 CTBS Synonymous SNV Y94Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.668 70537 chr22 26165321 26165321 A G rs563710682 MYO18B Nonsynonymous SNV I480V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 70538 chr11 67196712 67196712 G C rs201078105 RPS6KB2 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 70539 chr20 3782982 3782982 C T rs371158244 CDC25B Synonymous SNV L193L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.55 70540 chr21 28338425 28338425 G A rs78037991 ADAMTS5 Nonsynonymous SNV R96W 0.029 0.034 0.024 11 34 13 0.028 7 1 0 0 0 33 70541 chr12 44148560 44148560 T A rs11182252 PUS7L Synonymous SNV I163I 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 9.664 70542 chr22 29445468 29445468 C T rs34671303 ZNRF3 Synonymous SNV C433C 0.014 0.018 0.02 3 17 7 0.008 6 0 0 0 0 10.71 70543 chr20 39729815 39729815 T C PLCG1-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.866 70544 chr20 2413163 2413163 G C rs138807504 TGM6 Nonsynonymous SNV G621R 0.006 0.008 0.007 3 7 3 0.008 2 0 0 0 0 Benign 14.71 70545 chr20 16253974 16253974 G C rs760801454 KIF16B Nonsynonymous SNV S1242W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 70546 chr22 29977006 29977006 G A NIPSNAP1 Synonymous SNV R22R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.83 70547 chr20 17417513 17417513 C T rs6044812 PCSK2 Synonymous SNV A255A 0.014 0.003 0.01 3 17 1 0.008 3 0 0 0 0 17.63 70548 chr20 25493585 25493585 C T rs146615600 NINL Nonsynonymous SNV R112Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26 70549 chr20 17434572 17434572 C T rs41276384 PCSK2 Synonymous SNV N322N 0.02 0.01 0.024 7 23 4 0.018 7 0 0 0 0 14.96 70550 chr20 43043188 43043188 G A rs758124162 HNF4A Synonymous SNV A178A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.426 70551 chr11 68326147 68326147 C T rs143925321 PPP6R3 Nonsynonymous SNV T120I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 70552 chr12 48141598 48141598 T C rs146484121 RAPGEF3 Nonsynonymous SNV Y415C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 26.8 70553 chr20 17639807 17639807 C T rs78244614 RRBP1 Nonsynonymous SNV G449D 0.026 0.026 0.014 14 31 10 0.036 4 0 0 0 0 6.593 70554 chr20 3759947 3759947 T C rs200779040 SPEF1 Nonsynonymous SNV I92V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 17.47 70555 chr11 68773089 68773089 C T rs151254404 MRGPRF Nonsynonymous SNV R230Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.8 70556 chr20 43836997 43836997 G A rs7270575 SEMG1 Synonymous SNV T353T 0.035 0.021 0.02 10 41 8 0.026 6 0 0 0 0 10.35 70557 chr22 30951503 30951503 C T rs151043823 GAL3ST1 Nonsynonymous SNV E237K 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 20.4 70558 chr1 89654433 89654433 T C GBP4 Synonymous SNV E414E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.557 70559 chr20 44506208 44506208 G A rs61750778 ZSWIM3 Synonymous SNV E337E 0.019 0.008 0.007 5 22 3 0.013 2 0 0 0 0 2.589 70560 chr20 44511257 44511257 G A rs35972756 ZSWIM1 Stop gain W9X 0.019 0.008 0.007 5 22 3 0.013 2 0 0 0 0 23.6 70561 chr20 44512082 44512082 G A rs45447691 ZSWIM1 Nonsynonymous SNV R284H 0.019 0.008 0.007 5 22 3 0.013 2 0 0 0 0 12.17 70562 chr20 44515559 44515559 G A rs3827040 SPATA25 Nonsynonymous SNV P94L 0.02 0.008 0.007 5 24 3 0.013 2 0 0 0 0 12.59 70563 chr11 71719853 71719853 T C rs375669993 NUMA1 Synonymous SNV K1685K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.704 70564 chr12 49483699 49483699 A T rs144444357 DHH Synonymous SNV T378T 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.13 70565 chr20 44530943 44530943 G A rs6065903 PLTP Nonsynonymous SNV R285W 0.017 0.005 0.007 2 20 2 0.005 2 0 0 0 0 33 70566 chr11 73076893 73076893 G A rs781538554 ARHGEF17 Nonsynonymous SNV G1966S 0.007 0 0 0 8 0 0 0 0 0 0 0 15.85 70567 chr21 38128932 38128932 G A rs61732507 HLCS Synonymous SNV V787V 0.007 0.021 0.003 3 8 8 0.008 1 0 0 0 0 Benign 9.476 70568 chr20 43141539 43141539 G A rs764880471 SERINC3 Nonsynonymous SNV R100W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 70569 chr20 44680424 44680424 G T rs79522550 SLC12A5 Synonymous SNV G787G 0.014 0.026 0.034 7 17 10 0.018 10 0 0 0 0 Benign 8.097 70570 chr11 74203256 74203256 T A rs141813641 LIPT2 Nonsynonymous SNV E207V 0.013 0.008 0.017 8 15 3 0.021 5 0 0 0 0 29 70571 chr20 34214530 34214530 G A rs148449950 CPNE1 Nonsynonymous SNV R477C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 70572 chr20 4680026 4680026 G A rs763524380 PRNP Nonsynonymous SNV G54S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 23.6 70573 chr11 75134906 75134906 T C rs188056172 KLHL35 Nonsynonymous SNV K465E 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 10.96 70574 chr20 23065584 23065584 C T rs144703062 CD93 Nonsynonymous SNV V416I 0.004 0.01 0.014 3 5 4 0.008 4 0 1 0 0 8.72 70575 chr22 33253292 33253292 C T rs11547635 TIMP3 Synonymous SNV S87S 0.04 0.047 0.048 20 47 18 0.051 14 1 0 0 0 Benign 16.49 70576 chr21 41741068 41741068 C T rs369442382 DSCAM Nonsynonymous SNV G205R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 70577 chr20 36870315 36870315 C T rs116939237 KIAA1755 Nonsynonymous SNV C73Y 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 2.194 70578 chr20 47990250 47990250 G C rs2229006 KCNB1 Nonsynonymous SNV T616S 0.014 0.008 0.024 11 16 3 0.028 7 0 0 0 0 Benign 0.007 70579 chr11 76804752 76804752 T C rs781925328 CAPN5 Nonsynonymous SNV F64L 0.002 0 0 0 2 0 0 0 0 0 0 0 25 70580 chr22 36177713 36177713 C T rs200137291 RBFOX2 Synonymous SNV P110P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.67 70581 chr11 76829323 76829323 G A rs150707637 CAPN5 Synonymous SNV T364T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.942 70582 chr22 38121795 38121795 C T rs200359708 TRIOBP Nonsynonymous SNV R1078C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 29.9 70583 chr20 48431610 48431610 C T rs144315631 SLC9A8 Nonsynonymous SNV T31M 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 24.3 70584 chr12 52448887 52448887 G A NR4A1 Nonsynonymous SNV A259T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 70585 chr22 37407109 37407109 G C rs11554714 TST Nonsynonymous SNV P285A 0.014 0.013 0.003 4 16 5 0.01 1 1 0 0 0 22.8 70586 chr12 52473649 52473649 C G rs77130816 SMIM41 Nonsynonymous SNV P29R 0 0 0.061 0 0 0 0 18 0 0 1 0 12.5 70587 chr22 38151170 38151170 G A rs11704996 TRIOBP Synonymous SNV V137V 0.026 0.031 0.027 12 31 12 0.031 8 1 0 0 0 Benign 13.56 70588 chr20 45130797 45130797 G A rs151029464 ZNF334 Nonsynonymous SNV A356V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 70589 chr20 45228624 45228624 G A rs368231057 SLC13A3 Synonymous SNV L100L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.27 70590 chr21 43412882 43412882 C T rs375318729 ZBTB21 Synonymous SNV S441S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.364 70591 chr20 40034097 40034097 A G rs3746543 CHD6 Synonymous SNV T2428T 0.02 0.018 0.034 8 23 7 0.021 10 0 0 0 0 0.008 70592 chr12 52961475 52961475 A G KRT74 Nonsynonymous SNV M453T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 70593 chr20 40043913 40043913 C T rs2235589 CHD6 Synonymous SNV T2284T 0.013 0.013 0.031 6 15 5 0.015 9 0 0 0 0 12.76 70594 chr20 40054004 40054004 G A rs138612296 CHD6 Nonsynonymous SNV P1387L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.35 70595 chr20 41101003 41101003 G A rs760990579 PTPRT Synonymous SNV G451G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.417 70596 chr20 52192417 52192417 C T rs45439395 ZNF217 Synonymous SNV P962P 0.013 0.008 0.02 1 15 3 0.003 6 0 0 0 0 13.19 70597 chr11 82877538 82877538 G A rs369740258 PCF11 Synonymous SNV E533E 0.003 0 0 0 4 0 0 0 0 0 0 0 4.511 70598 chr11 82879960 82879960 T C rs116312789 PCF11 Synonymous SNV G992G 0.006 0 0 1 7 0 0.003 0 0 0 0 0 1.08 70599 chr22 38121696 38121696 C T rs145115226 TRIOBP Nonsynonymous SNV R1045C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 70600 chr20 30661130 30661130 T C rs34513177 HCK Synonymous SNV N43N 0.014 0.01 0.003 6 17 4 0.015 1 0 0 0 0 0.066 70601 chr21 43531669 43531669 C A rs140135030 UMODL1 Nonsynonymous SNV D707E 0.016 0.013 0.01 7 19 5 0.018 3 1 0 0 0 10.72 70602 chr11 82956580 82956580 G T rs77693567 ANKRD42 Synonymous SNV L412L 0.009 0 0 1 10 0 0.003 0 0 0 0 0 19.2 70603 chr22 38221207 38221207 G A rs748800299 GALR3 Synonymous SNV L279L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.53 70604 chr11 83182726 83182726 G T rs34857356 DLG2 Synonymous SNV R156R 0.013 0.005 0.003 1 15 2 0.003 1 0 0 0 0 Benign 13.75 70605 chr12 53002089 53002089 C T KRT73 Nonsynonymous SNV C505Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 70606 chr20 5283334 5283334 C T rs142753046 PROKR2 Synonymous SNV T169T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.452 70607 chr11 85420401 85420401 G A rs61740616 SYTL2 Nonsynonymous SNV A49V 0.026 0.026 0.02 13 30 10 0.033 6 1 0 0 0 23.2 70608 chr11 85435991 85435991 T C rs115708955 SYTL2 Synonymous SNV Q1470Q 0.027 0.029 0.031 14 32 11 0.036 9 1 0 0 0 0.003 70609 chr22 40814546 40814546 G A rs748627198 MRTFA Synonymous SNV P632P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.026 70610 chr20 43739409 43739409 C T rs138962368 WFDC5 Synonymous SNV S31S 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 10.79 70611 chr22 41075523 41075523 C T rs117372135 MCHR1 Nonsynonymous SNV T25M 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 10.26 70612 chr20 31480052 31480052 G C rs62208904 EFCAB8 Nonsynonymous SNV R236P 0.009 0.018 0.007 1 10 7 0.003 2 0 0 0 0 2.053 70613 chr22 41277881 41277881 G A XPNPEP3 Nonsynonymous SNV V97M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 70614 chr11 85445734 85445734 T C rs35751209 SYTL2 Nonsynonymous SNV Q212R 0.027 0.029 0.031 13 32 11 0.033 9 1 0 0 0 0.018 70615 chr20 4855309 4855309 G A rs41282100 SLC23A2 Synonymous SNV Y286Y 0.017 0.008 0.017 5 20 3 0.013 5 0 0 0 0 Benign 0.651 70616 chr20 56075371 56075371 C T rs113098798 CTCFL Nonsynonymous SNV A384T 0.013 0.008 0.003 6 15 3 0.015 1 1 0 0 0 12.72 70617 chr20 49209674 49209674 G T rs374189330 RIPOR3 Nonsynonymous SNV L758I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.936 70618 chr22 39883736 39883736 G C rs9623008 MGAT3 Synonymous SNV P128P 0.032 0.06 0.078 21 38 23 0.054 23 3 1 2 0 0.056 70619 chr21 44836887 44836887 G A rs56386767 SIK1, SIK1B Nonsynonymous SNV P696L 0.019 0.026 0.007 11 22 10 0.028 2 0 0 0 0 Benign 16.37 70620 chr22 42280967 42280967 T C rs374234598 SREBF2 Synonymous SNV A720A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.75 70621 chr22 39909847 39909847 G A rs141041315 MIEF1 Nonsynonymous SNV R304H 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign 18.97 70622 chr20 52790001 52790001 C A CYP24A1 Stop gain E40X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 70623 chr22 42606641 42606641 C T TCF20 Synonymous SNV P1557P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 70624 chr20 32664601 32664601 C A rs148075348 RALY Nonsynonymous SNV A197E 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 10.75 70625 chr21 45564711 45564711 C T rs34002183 GATD3A, GATD3B Synonymous SNV H198H 0.032 0.039 0.031 12 37 15 0.031 9 0 1 0 0 18.1 70626 chr21 45705988 45705988 T C rs3746964 AIRE Synonymous SNV A33A 0.056 0.065 0.061 18 66 25 0.046 18 2 1 1 0 Benign 3.264 70627 chr12 54422479 54422479 G A rs145731630 HOXC6 Synonymous SNV Q58Q 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 0.434 70628 chr21 45842222 45842222 G A rs758750941 TRPM2 Synonymous SNV T1177T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.283 70629 chr12 54854209 54854209 C T GTSF1 Nonsynonymous SNV G147S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 70630 chr22 41790179 41790179 G A rs17365991 TEF Synonymous SNV P155P 0.017 0.031 0.01 6 20 12 0.015 3 0 0 0 0 11.77 70631 chr22 42032621 42032621 G A rs761432957 XRCC6 Nonsynonymous SNV V96M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 70632 chr20 33876688 33876688 C T rs137868210 FAM83C Nonsynonymous SNV R196H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 25.9 70633 chr12 55356530 55356530 C T rs142793082 TESPA1 Synonymous SNV S175S 0.004 0 0.007 0 5 0 0 2 0 0 0 0 11.41 70634 chr20 47249116 47249116 G A rs4487145 PREX1 Synonymous SNV L1443L 0.119 0.089 0.085 50 140 34 0.128 25 6 2 1 2 13.17 70635 chr20 47249170 47249170 G A rs4487146 PREX1 Synonymous SNV N1425N 0.118 0.089 0.085 50 139 34 0.128 25 6 2 1 2 3.385 70636 chr20 34067573 34067573 C T rs111853969 CEP250 Synonymous SNV V165V 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Benign 16.23 70637 chr11 94924631 94924631 C T SESN3 Synonymous SNV Q15Q 0.003 0 0 0 3 0 0 0 0 0 0 0 10.9 70638 chr20 56803411 56803411 A G rs369771242 ANKRD60 Nonsynonymous SNV L100P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 70639 chr20 35242796 35242796 G A rs113102870 SLA2 Synonymous SNV L193L 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 11.28 70640 chr12 56075806 56075806 C T rs143952871 METTL7B Nonsynonymous SNV P90S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.186 70641 chr20 35835826 35835826 G A rs34488353 RPN2 Nonsynonymous SNV D124N 0.022 0.026 0.014 16 26 10 0.041 4 0 1 0 1 22.6 70642 chr21 46925126 46925126 C T rs372973695 COL18A1 Nonsynonymous SNV R1160C 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 34 70643 chr20 57429855 57429855 G C GNAS Nonsynonymous SNV G450R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 70644 chr22 44514937 44514937 A T rs776215311 PARVB Nonsynonymous SNV N61I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 70645 chr21 47531484 47531484 G A rs547648292 COL6A2 Nonsynonymous SNV E32K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.521 70646 chr20 58450406 58450406 T C rs748806958 SYCP2 Nonsynonymous SNV K1090R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.243 70647 chr22 45683103 45683103 T G rs145106685 UPK3A Nonsynonymous SNV S87A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.365 70648 chr22 45683104 45683104 C A rs138918236 UPK3A Stop gain S87X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 33 70649 chr12 57000083 57000083 C T rs139817454 BAZ2A Nonsynonymous SNV R736Q 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 28.3 70650 chr20 36999382 36999382 G A rs147081921 LBP Nonsynonymous SNV A384T 0.008 0.008 0 6 9 3 0.015 0 0 0 0 1 7.082 70651 chr21 47602686 47602686 G A rs557963450 SPATC1L Synonymous SNV N15N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.696 70652 chr12 57390038 57390038 T C rs35493121 GPR182 Nonsynonymous SNV C349R 0.043 0.049 0.068 21 51 19 0.054 20 1 0 2 0 0.006 70653 chr20 52774675 52774675 G A rs114368325 CYP24A1 Nonsynonymous SNV R396W 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Pathogenic 33 70654 chr12 57422934 57422934 G A rs17119344 MYO1A Nonsynonymous SNV T996I 0.037 0.047 0.071 18 44 18 0.046 21 0 0 2 0 Benign 8.939 70655 chr12 57493602 57493602 G A rs35182390 STAT6 Synonymous SNV S454S 0.007 0.01 0.01 4 8 4 0.01 3 0 0 0 0 Benign 12.91 70656 chr20 19565693 19565693 G A rs3790267 SLC24A3 Nonsynonymous SNV V168I 0.021 0.026 0.017 16 25 10 0.041 5 0 0 0 0 21.4 70657 chr20 19981290 19981290 A T rs368984007 RIN2 Nonsynonymous SNV S800C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.2 70658 chr21 47818034 47818034 G A rs1054727237 PCNT Nonsynonymous SNV R1400H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 70659 chr12 57606017 57606017 C T rs34223830 LRP1 Synonymous SNV D4489D 0.007 0.016 0.017 4 8 6 0.01 5 0 0 0 0 13.78 70660 chr21 47860056 47860056 C T rs534490490 PCNT Nonsynonymous SNV P2915S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.245 70661 chr12 57864321 57864321 G T rs147997893 GLI1 Nonsynonymous SNV G472C 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.5 70662 chr12 57864531 57864531 G T rs138680284 GLI1 Nonsynonymous SNV A542S 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 6.273 70663 chr12 57975670 57975670 C T rs139801016 KIF5A Nonsynonymous SNV T887I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 70664 chr22 17600313 17600313 C T rs149370082 TMEM121B Nonsynonymous SNV V569I 0.014 0.013 0.02 4 17 5 0.01 6 0 0 0 0 25.6 70665 chr22 46704841 46704841 G A GTSE1 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 70666 chr20 56191475 56191475 C T rs16981188 ZBP1 Synonymous SNV P28P 0.042 0.026 0.031 18 49 10 0.046 9 1 0 0 0 10.66 70667 chr22 46712307 46712307 T C rs761502129 GTSE1 Nonsynonymous SNV I477T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.68 70668 chr22 18171776 18171776 G A rs61741787 BCL2L13 Nonsynonymous SNV R109H 0.007 0.005 0.02 7 8 2 0.018 6 0 0 0 0 23.2 70669 chr20 57036068 57036068 G A rs73298776 APCDD1L Synonymous SNV I428I 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 0.75 70670 chr20 57036140 57036140 G T rs41308717 APCDD1L Synonymous SNV I404I 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 5.529 70671 chr12 58345606 58345606 T C rs17120203 ATP23 Synonymous SNV L9L 0.081 0.096 0.095 26 95 37 0.067 28 3 1 2 0 9.475 70672 chr20 44171415 44171415 A G rs139564349 EPPIN, EPPIN-WFDC6 Nonsynonymous SNV L109S 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.003 70673 chr22 19029429 19029429 C G rs778022686 DGCR2 Synonymous SNV L309L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 70674 chr22 19130247 19130247 G A rs111488352 ESS2 Nonsynonymous SNV P99L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 13.28 70675 chr11 111708280 111708280 G A rs45516107 ALG9 Synonymous SNV T283T 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.79 70676 chr12 62997180 62997180 T C rs10877887 LINC01465 0 0 0.194 0 0 0 0 57 0 0 20 0 0.753 70677 chr11 111796895 111796895 A C C11orf52 Nonsynonymous SNV Y115S 0.002 0 0 0 2 0 0 0 0 0 0 0 29 70678 chr22 50277523 50277523 G T rs55748279 ZBED4 Synonymous SNV P71P 0.027 0.013 0.037 5 32 5 0.013 11 1 0 0 0 0.99 70679 chr22 47311358 47311358 G T rs73888468 TBC1D22A-AS1 0.024 0.031 0.02 5 28 12 0.013 6 0 0 0 0 1.312 70680 chr22 47311382 47311382 A G rs73478592 TBC1D22A-AS1 0.024 0.031 0.02 5 28 12 0.013 6 0 0 0 0 0.266 70681 chr22 47311801 47311801 A G rs16995981 TBC1D22A-AS1 0.025 0.031 0.02 5 29 12 0.013 6 0 0 0 0 2.976 70682 chr20 44536492 44536492 G A rs138461220 PLTP Synonymous SNV L84L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.73 70683 chr20 62195726 62195726 G A rs45469491 HELZ2 Synonymous SNV D914D 0.022 0.018 0.044 6 26 7 0.015 13 0 0 1 0 1.699 70684 chr22 50307315 50307315 C T rs76707654 ALG12 Synonymous SNV V33V 0.025 0.008 0.037 2 29 3 0.005 11 1 0 0 0 Benign/Likely benign 12.38 70685 chr22 21356316 21356316 C G rs79461566 THAP7-AS1 0.006 0.01 0.034 6 7 4 0.015 10 0 1 0 0 7.709 70686 chr20 2775056 2775056 C T rs372944936 CPXM1 Nonsynonymous SNV R588H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 35 70687 chr20 62197568 62197568 G A rs61742585 HELZ2 Synonymous SNV V300V 0.022 0.018 0.031 6 26 7 0.015 9 0 0 0 0 6.467 70688 chr20 61467564 61467564 C G rs142066316 COL9A3 Nonsynonymous SNV P476R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 25.2 70689 chr22 50315936 50315973 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG - rs377640443 CRELD2 V198Afs*42 0.028 0.013 0.048 4 33 5 0.01 14 1 0 1 0 70690 chr20 5974291 5974291 A G rs41282946 MCM8 Nonsynonymous SNV I747V 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 2.657 70691 chr12 6562382 6562382 G A rs146581116 TAPBPL Nonsynonymous SNV D72N 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 31 70692 chr20 45315786 45315786 C T rs34983477 TP53RK Nonsynonymous SNV R123Q 0.014 0.016 0.01 5 16 6 0.013 3 0 0 0 0 24.1 70693 chr12 66308656 66308656 T C rs139459932 HMGA2 Nonsynonymous SNV C136R 0.003 0 0.014 3 3 0 0.008 4 1 0 0 0 0.028 70694 chr20 31238636 31238636 G A rs377035827 C20orf203 Synonymous SNV G61G 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.383 70695 chr20 61945237 61945237 G A rs41283002 COL20A1 Synonymous SNV E784E 0.026 0.01 0.017 8 30 4 0.021 5 0 0 0 1 4.44 70696 chr12 66610977 66610977 T C rs150032171 IRAK3 Synonymous SNV H144H 0.001 0.005 0.007 3 1 2 0.008 2 0 0 0 0 0.112 70697 chr12 6670191 6670191 T C rs200565177 NOP2 Nonsynonymous SNV N414S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 70698 chr20 47842981 47842981 G C rs1052174186 DDX27 Nonsynonymous SNV M236I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 70699 chr22 23481034 23481034 C T rs145680788 RSPH14 Nonsynonymous SNV V99M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 24.1 70700 chr20 62194445 62194445 G A rs753207905 HELZ2 Synonymous SNV S1341S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.989 70701 chr20 31680334 31680334 C T rs17122711 BPIFB4 Nonsynonymous SNV P405L 0.011 0.01 0.01 5 13 4 0.013 3 0 0 0 0 15.42 70702 chr11 116693871 116693871 C T rs12721041 APOA4 Nonsynonymous SNV V13M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 24 70703 chr12 69783937 69783937 T C rs315121 YEATS4 Synonymous SNV L121L 0.007 0.003 0.034 1 8 1 0.003 10 1 0 0 0 1.908 70704 chr21 15599594 15599596 AAG - rs747157623 RBM11 K286del 0.007 0.003 0 0 8 1 0 0 0 0 0 0 70705 chr11 117166217 117166217 C T BACE1 Nonsynonymous SNV G16E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.137 70706 chr22 50969673 50969673 C T rs148926442 ODF3B Nonsynonymous SNV R122Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 70707 chr22 50987042 50987042 C T rs754424798 KLHDC7B Synonymous SNV A790A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.12 70708 chr22 24236588 24236588 A T rs112568463 MIF-AS1 0.003 0.013 0.003 4 3 5 0.01 1 0 0 0 0 6.321 70709 chr11 117391879 117391879 C G rs145095214 DSCAML1 Nonsynonymous SNV Q393H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.62 70710 chr20 62384171 62384171 G A rs140280932 ZBTB46 Synonymous SNV Y422Y 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 5.67 70711 chr2 100210335 100210335 G - rs201754690 AFF3 D623Tfs*48 0.068 0.068 0.068 42 80 26 0.108 20 3 2 0 4 70712 chr2 100210338 100210342 TGAGG - rs199557232 AFF3 T619Sfs*72 0.069 0.068 0.068 42 81 26 0.108 20 3 2 0 4 70713 chr20 33875439 33875439 C T rs142547501 FAM83C Synonymous SNV L381L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.326 70714 chr12 7249303 7249303 C G C1RL Nonsynonymous SNV G341A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.455 70715 chr12 72666391 72666391 A G rs6582089 TRHDE-AS1 0 0 0.126 0 0 0 0 37 0 0 18 0 12.98 70716 chr20 54824440 54824440 G A rs778979632 MC3R Nonsynonymous SNV V181I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.465 70717 chr20 62859298 62859298 C T rs76015823 MYT1 Synonymous SNV D883D 0.013 0.005 0.02 1 15 2 0.003 6 0 0 0 0 Benign 15.52 70718 chr12 74686394 74686394 A G rs73350827 LOC100507377 0 0 0.065 0 0 0 0 19 0 0 0 0 3.824 70719 chr2 103063608 103063608 A G rs147548529 IL18RAP Nonsynonymous SNV H384R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.27 70720 chr2 103335512 103335512 G C rs33988363 MFSD9 Synonymous SNV A203A 0.005 0.005 0.02 3 6 2 0.008 6 0 0 0 0 0.392 70721 chr11 119031669 119031669 G A rs117432650 ABCG4 Synonymous SNV P598P 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 6.804 70722 chr2 10262850 10262850 G T rs369899813 RRM2 Nonsynonymous SNV W35C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 70723 chr20 3672717 3672717 G T rs146035034 SIGLEC1 Nonsynonymous SNV T1388K 0.006 0 0 4 7 0 0.01 0 0 0 0 0 25 70724 chr22 26924190 26924190 C T TPST2 Synonymous SNV S377S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.94 70725 chr11 119998151 119998151 C G rs146343820 TRIM29 Nonsynonymous SNV V82L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 70726 chr21 15974407 15974407 A G rs61745082 LOC388813 Synonymous SNV N84N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.062 70727 chr20 36932647 36932647 G A rs5743497 BPI Nonsynonymous SNV A8T 0.028 0.036 0.007 15 33 14 0.038 2 0 0 0 0 Benign 0.088 70728 chr21 33068473 33068473 A G rs117061499 SCAF4 Nonsynonymous SNV F326L 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 29.7 70729 chr20 57613569 57613569 G A rs189566451 PRELID3B Synonymous SNV S51S 0.004 0 0 3 5 0 0.008 0 0 0 0 0 9.976 70730 chr22 30772672 30772672 A C rs768087611 CCDC157 Synonymous SNV R733R 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 0.104 70731 chr20 37384634 37384634 C T rs114985200 ACTR5 Synonymous SNV L376L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.58 70732 chr21 33887315 33887315 C T rs78591294 EVA1C Nonsynonymous SNV P274S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 8.614 70733 chr12 8211784 8211784 A G rs56136109 C3AR1 Nonsynonymous SNV L333P 0.037 0.044 0.061 14 44 17 0.036 18 1 0 0 0 10.53 70734 chr20 3777220 3777220 C T rs11569979 CDC25B Synonymous SNV L14L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 10.26 70735 chr2 108863758 108863758 G A rs112050262 SULT1C3 Stop gain W36X 0.014 0.005 0.014 4 17 2 0.01 4 0 0 0 0 Benign 34 70736 chr20 60737908 60737908 G A rs61744430 SS18L1 Synonymous SNV S159S 0.072 0.07 0.085 32 84 27 0.082 25 1 0 2 2 8.057 70737 chr20 60738566 60738566 C T rs73309164 SS18L1 Synonymous SNV G203G 0.068 0.073 0.075 28 80 28 0.072 22 1 0 1 1 15.28 70738 chr11 123493243 123493243 C T rs577994589 GRAMD1B Synonymous SNV N679N 0.003 0 0 0 3 0 0 0 0 0 0 0 12.52 70739 chr12 85546920 85546920 G A rs768126622 LRRIQ1 Nonsynonymous SNV S1513N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.662 70740 chr2 108875267 108875267 T C rs111455491 SULT1C3 Nonsynonymous SNV Y202H 0.014 0.005 0.014 4 17 2 0.01 4 0 0 0 0 24.1 70741 chr20 60887792 60887792 C T rs368713787 LAMA5 Synonymous SNV V3041V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.59 70742 chr20 39792419 39792419 C T rs150381500 PLCG1 Nonsynonymous SNV P319L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 18.52 70743 chr2 113943688 113943688 C T rs200506453 PSD4 Nonsynonymous SNV T495M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 70744 chr22 31535995 31535995 C G rs2074734 PLA2G3 Nonsynonymous SNV E116Q 0.072 0.06 0.044 18 85 23 0.046 13 3 2 0 0 22.8 70745 chr22 31737436 31737436 G A rs62236170 PATZ1 Synonymous SNV T523T 0.06 0.049 0.044 20 71 19 0.051 13 3 2 0 0 16 70746 chr22 31946282 31946282 T C rs16989753 SFI1 Synonymous SNV Y82Y 0.066 0.047 0.041 21 77 18 0.054 12 3 0 0 2 0.006 70747 chr22 32007153 32007153 G A rs9621295 SFI1 Nonsynonymous SNV R705H 0.066 0.047 0.044 21 77 18 0.054 13 3 0 0 2 9.846 70748 chr21 32508318 32508318 G A rs141765629 TIAM1 Synonymous SNV T305T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.21 70749 chr22 32334058 32334058 T C rs75883264 C22orf24 Nonsynonymous SNV N66D 0.002 0.008 0 6 2 3 0.015 0 0 0 0 0 0.845 70750 chr11 123887118 123887118 G C rs150326783 OR10G4 Synonymous SNV T279T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.012 70751 chr12 93181768 93181768 C A rs61756482 EEA1 Nonsynonymous SNV A1009S 0.014 0.013 0.02 6 17 5 0.015 6 0 0 1 0 12.55 70752 chr2 11696806 11696806 C T rs16857629 GREB1 Synonymous SNV I22I 0.026 0.026 0.014 10 30 10 0.026 4 0 0 0 0 20.2 70753 chr2 128016978 128016978 G A rs4150521 ERCC3 Nonsynonymous SNV S704L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24 70754 chr21 41151163 41151163 T C rs143191361 IGSF5 Nonsynonymous SNV C289R 0.012 0.01 0.007 9 14 4 0.023 2 0 0 0 0 12.26 70755 chr11 123989243 123989243 C T rs765247000 VWA5A Nonsynonymous SNV S158L 0.003 0 0 0 3 0 0 0 0 0 0 0 1.445 70756 chr12 95927666 95927666 T G rs61750891 USP44 Nonsynonymous SNV M123L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.001 70757 chr11 123989364 123989364 C T rs142327603 VWA5A Synonymous SNV N198N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.946 70758 chr11 124016058 124016058 C T rs117689747 VWA5A Nonsynonymous SNV R757C 0.026 0.026 0.02 4 30 10 0.01 6 0 0 0 0 23.1 70759 chr22 36889816 36889816 G A rs138563338 FOXRED2 Synonymous SNV P463P 0.012 0.016 0.003 1 14 6 0.003 1 0 0 0 0 11.48 70760 chr2 11751118 11751118 G A rs3762578 GREB1 Nonsynonymous SNV V991I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.875 70761 chr21 32526668 32526668 T A rs75483199 TIAM1 Nonsynonymous SNV D56V 0.02 0.005 0.01 7 23 2 0.018 3 0 0 0 0 23.3 70762 chr2 11798612 11798612 C T rs200683246 NTSR2 Nonsynonymous SNV R409Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.212 70763 chr21 33690177 33690177 G A rs369162830 URB1 Synonymous SNV S1948S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 1 7.906 70764 chr2 118735590 118735590 G A rs34095554 CCDC93 Nonsynonymous SNV R213C 0.014 0.01 0.014 1 16 4 0.003 4 0 0 0 0 33 70765 chr11 124482977 124482977 G C rs34498516 PANX3 Nonsynonymous SNV G95R 0.014 0.008 0.017 2 16 3 0.005 5 0 0 0 0 2.573 70766 chr20 62190631 62190631 G A rs77136158 HELZ2 Nonsynonymous SNV R2071C 0.009 0.005 0.007 6 11 2 0.015 2 0 0 0 0 Benign 25 70767 chr20 62193921 62193921 G A rs372444570 HELZ2 Nonsynonymous SNV P1516L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 70768 chr21 34067475 34067475 C T rs763090745 SYNJ1 Synonymous SNV A199A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.63 70769 chr21 43531129 43531129 G A rs200361969 UMODL1 Synonymous SNV P599P 0.012 0.005 0.003 3 14 2 0.008 1 0 0 0 0 Benign 6.525 70770 chr21 43531245 43531245 C - UMODL1 P567Rfs*13 0.002 0 0 0 2 0 0 0 0 0 0 0 70771 chr20 62198576 62198576 G A HELZ2 Nonsynonymous SNV A143V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.2 70772 chr13 100004108 100004108 G A rs727263 FKSG29 0 0 0.088 0 0 0 0 26 0 0 1 0 4.307 70773 chr20 47256372 47256372 T C rs143830265 PREX1 Nonsynonymous SNV Q1279R 0.009 0.003 0.01 3 10 1 0.008 3 0 0 0 0 12.98 70774 chr2 125204348 125204348 T C rs185130455 CNTNAP5 Nonsynonymous SNV L251P 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Likely benign 6.92 70775 chr2 1204808 1204808 C T rs190210611 SNTG2 Nonsynonymous SNV S204L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.3 70776 chr22 38119378 38119378 C A rs140901235 TRIOBP Nonsynonymous SNV T272K 0.009 0.013 0.007 12 10 5 0.031 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.05 70777 chr13 101828654 101828654 T C rs17582557 NALCN Synonymous SNV K583K 0.064 0.091 0.065 22 75 35 0.056 19 2 2 0 1 Benign 0.257 70778 chr2 136399171 136399171 C T R3HDM1 Nonsynonymous SNV P373S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 70779 chr2 128383046 128383046 A G rs748696368 MYO7B Nonsynonymous SNV H1358R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.623 70780 chr13 103383651 103383651 T C CCDC168 Nonsynonymous SNV M6466V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 70781 chr21 41142932 41142932 C T rs8129968 IGSF5 Nonsynonymous SNV R170W 0.046 0.026 0.041 16 54 10 0.041 12 1 0 0 0 24.8 70782 chr21 43982247 43982247 C A rs77485357 SLC37A1 Synonymous SNV L347L 0.034 0.021 0.037 15 40 8 0.038 11 0 0 0 0 17.28 70783 chr2 127809840 127809840 C A rs61748155 BIN1 Synonymous SNV G336G 0.045 0.034 0.014 25 53 13 0.064 4 2 0 0 0 Conflicting interpretations of pathogenicity 16.46 70784 chr11 126134931 126134931 C T rs114538197 SRPRA Nonsynonymous SNV G455D 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 26.6 70785 chr20 62575017 62575017 T C rs759729778 UCKL1 Synonymous SNV E289E 0.003 0.008 0 0 4 3 0 0 0 0 0 0 7.244 70786 chr13 103392741 103392741 G A rs117074021 CCDC168 Nonsynonymous SNV R3436W 0.007 0.013 0.014 6 8 5 0.015 4 0 0 0 0 0.632 70787 chr2 128412453 128412453 G A rs35765118 LIMS2 Synonymous SNV Y63Y 0.019 0.013 0.014 7 22 5 0.018 4 0 0 0 0 Benign 6.456 70788 chr22 38483171 38483171 G A rs142001534 BAIAP2L2 Nonsynonymous SNV P407S 0.026 0.026 0.037 20 31 10 0.051 11 1 0 0 0 0.213 70789 chr21 38081500 38081500 G A rs146997732 SIM2 Nonsynonymous SNV A70T 0.018 0.008 0.003 0 21 3 0 1 0 0 0 0 8.372 70790 chr22 38483174 38483174 A T rs78489217 BAIAP2L2 Nonsynonymous SNV S406T 0.024 0.026 0.017 16 28 10 0.041 5 1 0 0 0 0.001 70791 chr20 49575021 49575021 G A rs117175017 DPM1 Nonsynonymous SNV R14W 0.007 0.005 0.01 3 8 2 0.008 3 1 0 0 0 Conflicting interpretations of pathogenicity 23.5 70792 chr11 128332262 128332262 G A rs34846069 ETS1 Synonymous SNV D224D 0.009 0.01 0.017 7 11 4 0.018 5 0 0 0 0 6.021 70793 chr21 43230669 43230669 C T rs146699277 PRDM15 Synonymous SNV T868T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.01 70794 chr21 43319355 43319355 C T rs150987090 C2CD2 Synonymous SNV P404P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.02 70795 chr21 39492430 39492430 C T rs111572706 DSCR4 0.017 0.005 0.034 2 20 2 0.005 10 2 0 0 0 12.96 70796 chr20 52193293 52193293 G A rs146851813 ZNF217 Synonymous SNV T670T 0 0 0 2 0 0 0.005 0 0 0 0 0 8.951 70797 chr20 896715 896715 A G rs146594844 ANGPT4 Nonsynonymous SNV L48S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 22.6 70798 chr2 151326657 151326657 G A rs147938126 RND3 Synonymous SNV A193A 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 9.889 70799 chr21 43510437 43510437 A G rs17114359 UMODL1 Nonsynonymous SNV N274D 0.052 0.026 0.031 14 61 10 0.036 9 1 0 0 1 13.22 70800 chr13 109793597 109793597 C T rs761119782 MYO16 Synonymous SNV P1679P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.78 70801 chr22 39639910 39639910 G T PDGFB Nonsynonymous SNV A20D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 70802 chr22 39639911 39639911 C T PDGFB Nonsynonymous SNV A20T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 70803 chr21 43531264 43531264 C G rs111772429 UMODL1 Nonsynonymous SNV D572E 0.049 0.029 0.041 14 58 11 0.036 12 1 0 0 1 0.003 70804 chr13 110833706 110833706 G A rs150129180 COL4A1 Nonsynonymous SNV P709L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.09 70805 chr21 45978518 45978518 A G rs59607155 KRTAP10-3 Synonymous SNV C27C 0.011 0 0.003 1 13 0 0.003 1 0 0 0 0 0.381 70806 chr21 45978557 45978557 A G rs74513898 KRTAP10-3 Synonymous SNV S14S 0.003 0 0.01 0 4 0 0 3 0 0 0 0 0.013 70807 chr21 45978561 45978561 T C rs200908019 KRTAP10-3 Nonsynonymous SNV Y13C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 70808 chr2 152385739 152385739 G A rs34718443 NEB Synonymous SNV Y5539Y 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.164 70809 chr11 134090560 134090560 A G rs112183153 NCAPD3 Nonsynonymous SNV I42T 0.013 0.003 0 3 15 1 0.008 0 0 0 0 0 23.6 70810 chr2 152398045 152398045 G C rs16830192 NEB Synonymous SNV G5165G 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 Benign 10.84 70811 chr2 135745304 135745304 A G rs140022497 MAP3K19 Nonsynonymous SNV Y267H 0.006 0.013 0.02 4 7 5 0.01 6 0 0 0 0 0.004 70812 chr2 152404218 152404218 T A rs2288200 NEB Nonsynonymous SNV D5030V 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 Benign 33 70813 chr2 152432811 152432811 A T rs35227368 NEB Nonsynonymous SNV S3887T 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 Benign 23.2 70814 chr13 111164499 111164499 A G COL4A2 Synonymous SNV T1700T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.631 70815 chr21 44485590 44485590 C T rs73906420 CBS, CBSL Synonymous SNV T86T 0.009 0 0.01 4 10 0 0.01 3 0 0 0 0 Benign/Likely benign 17 70816 chr2 152497088 152497088 G A rs61730771 NEB Synonymous SNV H2822H 0.017 0.018 0.027 6 20 7 0.015 8 0 0 0 0 Benign/Likely benign 8.526 70817 chr2 152499143 152499143 C T rs35974308 NEB Nonsynonymous SNV R2773Q 0.017 0.021 0.024 10 20 8 0.026 7 0 0 0 0 Benign/Likely benign 26.4 70818 chr12 330163 330163 G A SLC6A13 Nonsynonymous SNV T495I 0.003 0 0 0 3 0 0 0 0 0 0 0 11.7 70819 chr13 111521351 111521351 T C rs927879 LINC00346 0 0 0.605 0 0 0 0 178 0 0 89 0 1.942 70820 chr22 41973397 41973397 G A PMM1 Synonymous SNV H238H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.71 70821 chr2 152527636 152527636 C G rs34800215 NEB Nonsynonymous SNV E1469D 0.017 0.018 0.024 6 20 7 0.015 7 0 0 0 0 Benign/Likely benign 23.2 70822 chr2 136626283 136626283 C T rs146507564 MCM6 Synonymous SNV Q171Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.06 70823 chr2 138030234 138030234 C T rs12622896 THSD7B 0.02 0.018 0.014 9 23 7 0.023 4 0 0 0 0 23.8 70824 chr22 42095658 42095658 T G rs147348682 MEI1 Nonsynonymous SNV V39G 0.012 0.008 0.003 6 14 3 0.015 1 0 0 0 0 22.1 70825 chr2 136567154 136567154 C T rs116951780 LCT Synonymous SNV A921A 0.021 0.026 0.007 9 25 10 0.023 2 1 0 0 0 Conflicting interpretations of pathogenicity 9.009 70826 chr21 28315841 28315841 G A rs61088614 ADAMTS5 Synonymous SNV D421D 0.011 0.013 0.024 4 13 5 0.01 7 0 0 0 0 8.793 70827 chr2 136664975 136664975 A G rs76296777 DARS1 Synonymous SNV L373L 0.015 0.021 0.007 3 18 8 0.008 2 1 0 0 0 Benign 5.434 70828 chr2 15468425 15468425 A C rs34962722 NBAS Nonsynonymous SNV C1453W 0.026 0.021 0.017 15 31 8 0.038 5 1 0 0 1 6.472 70829 chr2 136874061 136874061 G C CXCR4 Nonsynonymous SNV C71W 0 0.003 0 0 0 1 0 0 0 0 0 0 9.717 70830 chr21 45712995 45712995 G A rs72650676 AIRE Synonymous SNV P405P 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Likely benign 5.212 70831 chr20 57768417 57768417 G A rs61743781 ZNF831 Synonymous SNV P781P 0.004 0 0.003 6 5 0 0.015 1 0 0 0 0 Benign 6.234 70832 chr13 113826100 113826100 G A rs3024772 PROZ Nonsynonymous SNV R295H 0.044 0.052 0.041 12 52 20 0.031 12 2 0 0 0 11.65 70833 chr20 57768655 57768655 G A rs61743779 ZNF831 Nonsynonymous SNV D861N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 20.3 70834 chr21 31311792 31311792 C A rs772575613 GRIK1 Nonsynonymous SNV Q9H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 70835 chr21 45945648 45945648 G C rs35028190 TSPEAR Nonsynonymous SNV H408Q 0.049 0.029 0.027 18 57 11 0.046 8 1 0 0 0 Benign 2.214 70836 chr20 5953815 5953815 A G rs34464794 MCM8 Synonymous SNV P456P 0.05 0.052 0.065 17 59 20 0.044 19 2 0 0 0 3.614 70837 chr21 43543228 43543228 G A rs536557318 UMODL1 Nonsynonymous SNV G1095S 0.003 0 0 0 3 0 0 0 0 0 0 0 21 70838 chr21 45987834 45987834 G A rs781956758 TSPEAR Synonymous SNV S46S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 7.655 70839 chr13 21237413 21237413 G A rs17055251 IFT88 Nonsynonymous SNV V675M 0 0 0.194 0 0 0 0 57 0 0 6 0 1.379 70840 chr21 43857602 43857602 C G rs17114930 UBASH3A Nonsynonymous SNV D428E 0.039 0.034 0.037 18 46 13 0.046 11 0 1 0 1 0.005 70841 chr20 60893635 60893635 C T rs111653839 LAMA5 Nonsynonymous SNV D2372N 0.009 0.003 0.017 5 11 1 0.013 5 1 0 0 0 Conflicting interpretations of pathogenicity 13.63 70842 chr21 47721985 47721985 - TGGTGG C21orf58 H193_A194insHH 0.002 0 0 0 2 0 0 0 0 0 0 0 70843 chr2 160738683 160738683 G T rs138660778 LY75, LY75-CD302 Nonsynonymous SNV H400N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.5 70844 chr2 152382511 152382511 G C rs192402741 NEB Nonsynonymous SNV D5673E 0.008 0.013 0.01 2 9 5 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 13.48 70845 chr2 152394444 152394444 G C rs62167164 NEB Nonsynonymous SNV S5314C 0.011 0.016 0.02 5 13 6 0.013 6 0 0 0 0 Benign/Likely benign 25.1 70846 chr22 45204922 45204922 G A rs751081645 ARHGAP8 Synonymous SNV S112S 0.008 0.008 0 0 9 3 0 0 0 0 0 0 0.629 70847 chr12 6568037 6568037 T C rs138882385 TAPBPL Synonymous SNV G377G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.633 70848 chr2 1642700 1642700 G A rs61747875 PXDN Nonsynonymous SNV T1375I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.824 70849 chr2 1642736 1642736 C T rs61747868 PXDN Nonsynonymous SNV G1363E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.587 70850 chr2 164467802 164467802 G C rs267598951 FIGN Synonymous SNV L169L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.536 70851 chr21 35239562 35239562 A G rs56279221 ITSN1 Nonsynonymous SNV K1362R 0.039 0.016 0.027 11 46 6 0.028 8 0 0 1 0 24 70852 chr20 61297955 61297955 C T rs45557047 SLCO4A1-AS1 0.027 0.042 0.02 6 32 16 0.015 6 0 1 1 0 0.269 70853 chr12 6954758 6954768 CAATGGAGAGG - rs782383372 GNB3 N236Hfs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 70854 chr13 25444875 25444875 C T rs147986894 RNF17 Nonsynonymous SNV T1478I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.6 70855 chr21 45743744 45743744 C T rs61737075 PFKL Synonymous SNV N531N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.91 70856 chr13 25876007 25876007 G C rs11556094 NUP58 Synonymous SNV T32T 0.014 0.018 0.017 1 16 7 0.003 5 0 0 0 0 6.789 70857 chr22 46685754 46685754 C T rs182313981 TTC38 Nonsynonymous SNV A425V 0.01 0.01 0.02 4 12 4 0.01 6 0 0 0 0 26 70858 chr21 37584313 37584313 C T rs145675378 DOP1B Synonymous SNV I274I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.17 70859 chr21 37602869 37602869 C T rs150192185 DOP1B Nonsynonymous SNV S596L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27.7 70860 chr2 166930052 166930052 C G rs121917906 SCN1A Nonsynonymous SNV R27T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 70861 chr21 37603426 37603426 C T rs141956049 DOP1B Synonymous SNV L782L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.444 70862 chr2 167056279 167056279 C T rs765755704 SCN9A Nonsynonymous SNV V1624I 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 10.03 70863 chr22 18064230 18064230 G T rs144409568 LOC101929372 Nonsynonymous SNV P120H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.991 70864 chr2 167056280 167056280 T C rs750980200 SCN9A Synonymous SNV L1623L 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 7.551 70865 chr20 61990948 61990948 G A rs112051150 CHRNA4 Synonymous SNV D60D 0 0 0 2 0 0 0.005 0 0 0 0 0 10.48 70866 chr22 47086007 47086007 C A rs148346577 CERK Nonsynonymous SNV G475W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 70867 chr22 17280746 17280746 C T rs372497479 XKR3 Synonymous SNV V168V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.731 70868 chr2 168100443 168100443 C A rs16853307 XIRP2 Synonymous SNV T625T 0.018 0.013 0.007 6 21 5 0.015 2 1 0 0 0 13.19 70869 chr2 168101142 168101142 T G rs61748633 XIRP2 Synonymous SNV T858T 0.018 0.013 0.007 6 21 5 0.015 2 1 0 0 0 0.022 70870 chr2 168103701 168103701 A G rs16853313 XIRP2 Synonymous SNV Q1711Q 0.018 0.013 0.007 6 21 5 0.015 2 1 0 0 0 0.002 70871 chr2 168115325 168115325 A G rs3749005 XIRP2 Nonsynonymous SNV R535G 0.018 0.013 0.007 6 21 5 0.015 2 1 0 0 0 7.31 70872 chr12 8988240 8988240 T C rs145494834 A2ML1 Synonymous SNV G207G 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 Benign 3.912 70873 chr12 9002754 9002754 A C rs201096838 A2ML1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.809 70874 chr22 19470249 19470249 G A rs13447203 CDC45 Nonsynonymous SNV V81I 0.03 0.018 0.007 6 35 7 0.015 2 0 1 0 0 Benign 12.15 70875 chr22 19496123 19496123 G A rs13447263 CDC45 Nonsynonymous SNV V330M 0.003 0 0 0 4 0 0 0 0 0 0 0 25.2 70876 chr2 160738803 160738803 G A rs35675007 LY75, LY75-CD302 Nonsynonymous SNV R360C 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 26.6 70877 chr21 40568894 40568894 T C rs749785280 BRWD1 Nonsynonymous SNV N2034S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 70878 chr22 20104493 20104511 GGCCTGTCACAAGGGAAGT - rs564262685 TRMT2A 0.032 0.039 0.044 10 38 15 0.026 13 0 0 0 0 70879 chr12 9304839 9304839 G C rs147424033 PZP Nonsynonymous SNV P1397A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 70880 chr2 165811152 165811152 G A SLC38A11 Nonsynonymous SNV S48F 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 70881 chr13 36239272 36239272 G T rs41292207 NBEA Nonsynonymous SNV V577F 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 32 70882 chr22 21327579 21327579 C T rs755313056 AIFM3 Synonymous SNV G11G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.825 70883 chr22 21355576 21355576 C G rs145388226 THAP7 Nonsynonymous SNV E69Q 0.008 0.003 0.014 5 9 1 0.013 4 0 0 0 0 24 70884 chr21 47571568 47571568 C G FTCD, FTCD-AS1 Nonsynonymous SNV N40K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.76 70885 chr20 62597996 62597996 T C rs150966051 ZNF512B Nonsynonymous SNV R178G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23 70886 chr21 47754510 47754510 - TGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA PCNT Q50_R51insHGMFTVSDHPPEQ 0.005 0.005 0 0 6 2 0 0 0 0 0 0 70887 chr2 172965367 172965367 C A rs149742254 DLX2 Synonymous SNV A297A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Likely benign 21.8 70888 chr2 167262535 167262535 G C rs752678953 SCN7A Nonsynonymous SNV S1535C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 70889 chr21 47836024 47836024 C T PCNT Synonymous SNV V1946V 0.007 0 0 2 8 0 0.005 0 0 0 0 0 Uncertain significance 11.71 70890 chr21 47836082 47836082 A G rs766745764 PCNT Nonsynonymous SNV M1966V 0.007 0 0 2 8 0 0.005 0 0 0 0 0 0.001 70891 chr20 825992 825992 C T rs200909595 FAM110A Nonsynonymous SNV P182L 0.005 0.008 0.014 8 6 3 0.021 4 0 0 0 0 24.9 70892 chr20 9417711 9417711 C G rs34678819 PLCB4 Synonymous SNV T880T 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 6.703 70893 chr22 50987690 50987690 C T rs147168342 KLHDC7B Synonymous SNV S1006S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.96 70894 chr13 43181024 43181024 T C rs9562415 TNFSF11 Synonymous SNV F308F 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign 0.338 70895 chr22 51064010 51064010 G C ARSA Nonsynonymous SNV Q403E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.96 70896 chr22 23438431 23438431 G T rs114515939 GNAZ Synonymous SNV T183T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.99 70897 chr21 15873026 15873026 T C rs62227165 SAMSN1 Nonsynonymous SNV T198A 0.011 0.023 0.037 6 13 9 0.015 11 0 0 0 0 23.1 70898 chr13 45148866 45148868 CCA - rs201688574 TSC22D1 V448del 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 70899 chr2 169764141 169764141 A C rs2232323 G6PC2 Nonsynonymous SNV Y207S 0.022 0.047 0.01 5 26 18 0.013 3 0 1 0 0 24.1 70900 chr2 169820760 169820760 A G rs191649793 ABCB11 Synonymous SNV L712L 0.014 0.021 0 8 16 8 0.021 0 0 0 0 0 Benign/Likely benign 9.692 70901 chr2 179612383 179612383 C T rs72648907 TTN Nonsynonymous SNV R4915H 0.039 0.039 0.041 23 46 15 0.059 12 1 0 0 0 Benign 12.38 70902 chr12 11214324 11214324 C T rs755006988 TAS2R46 Synonymous SNV L190L 0.014 0.005 0 0 17 2 0 0 0 0 0 0 3.071 70903 chr12 11214326 11214326 G C rs779108518 TAS2R46 Nonsynonymous SNV L190V 0.014 0.008 0 0 16 3 0 0 0 0 0 0 0.001 70904 chr22 22890705 22890705 G A rs761766767 PRAME Synonymous SNV H422H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 2.037 70905 chr12 11214330 11214330 G A rs758603594 TAS2R46 Synonymous SNV F188F 0.014 0.01 0 0 16 4 0 0 0 0 0 0 0.833 70906 chr13 46287505 46287505 C T rs17067095 CBY2 Synonymous SNV D88D 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 10.07 70907 chr22 24487739 24487739 G A rs117908385 CABIN1 Nonsynonymous SNV R1193H 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 34 70908 chr2 176794809 176794809 C T rs778543010 LNPK Synonymous SNV E268E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.05 70909 chr12 11214632 11214634 AGA - rs770425892 TAS2R46 V87_W88delinsG 0.018 0.005 0.01 5 21 2 0.013 3 1 0 0 0 70910 chr2 102955370 102955370 C T rs190188722 IL1RL1 Synonymous SNV T45T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.76 70911 chr12 11214634 11214634 - CC rs774022236 TAS2R46 Frameshift insertion V87Gfs*5 0.018 0.005 0.01 5 21 2 0.013 3 1 0 0 0 70912 chr22 19968814 19968814 G A rs372801506 ARVCF Synonymous SNV D272D 0.008 0 0 0 9 0 0 0 0 0 0 0 10.57 70913 chr2 103040702 103040702 A G rs11695455 IL18RAP Nonsynonymous SNV D136G 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 2.179 70914 chr13 49762671 49762671 T C rs371437236 FNDC3A Nonsynonymous SNV Y560H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 70915 chr21 45547886 45547886 G A rs140840856 LOC102724159, PWP2 Synonymous SNV P738P 0.017 0.005 0.01 8 20 2 0.021 3 0 0 0 0 4.349 70916 chr22 24836650 24836650 C T rs8192446 ADORA2A Synonymous SNV N144N 0.011 0.021 0.003 2 13 8 0.005 1 0 0 0 0 Benign 10.08 70917 chr12 11420335 11420460 GGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGA - PRB3 H242Sfs*13 0.022 0.018 0.007 2 26 7 0.005 2 0 0 0 0 70918 chr13 51590433 51590433 C T rs17075173 GUCY1B2 0 0 0.16 0 0 0 0 47 0 0 2 0 9.596 70919 chr22 20920813 20920813 - CAGCAG rs780625319 MED15 Q191_A192insQQ 0.024 0.029 0.007 0 28 11 0 2 0 0 0 0 70920 chr2 106694260 106694260 C T rs375563861 ECRG4 Stop gain R109X 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 37 70921 chr2 180815413 180815413 C T rs61745429 CWC22 Nonsynonymous SNV A656T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.85 70922 chr21 45978509 45978509 G - rs587665364 KRTAP10-3 C31Afs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 70923 chr21 45978514 45978514 G T rs200759941 KRTAP10-3 Nonsynonymous SNV P29T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 70924 chr13 52725328 52725328 A G rs41292806 NEK3 Synonymous SNV Y167Y 0.011 0.005 0.003 1 13 2 0.003 1 0 0 0 0 2.115 70925 chr22 26388398 26388398 C T rs147898739 MYO18B Nonsynonymous SNV R2077W 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 Likely benign 34 70926 chr21 46066968 46066968 A G rs201197166 KRTAP10-11 Nonsynonymous SNV Y198C 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.001 70927 chr13 53047966 53047966 G A rs41292820 CKAP2 Nonsynonymous SNV E518K 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 Benign 19.49 70928 chr21 32931595 32931595 G A rs182738536 LOC150051 Nonsynonymous SNV A8T 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 8.55 70929 chr13 73340177 73340177 G A rs35017269 DIS3 Nonsynonymous SNV P512S 0.01 0 0.017 5 12 0 0.013 5 1 0 0 0 23.2 70930 chr21 46131376 46131376 G A rs368945638 TSPEAR Synonymous SNV H18H 0.003 0 0 0 3 0 0 0 0 0 0 0 2.821 70931 chr13 75863116 75863116 T C rs76851570 TBC1D4 Nonsynonymous SNV N1143S 0.024 0.016 0.034 11 28 6 0.028 10 0 0 0 0 Benign 26.9 70932 chr2 178684997 178684997 A G PDE11A Nonsynonymous SNV I65T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 70933 chr21 34443156 34443156 C T rs17852427 OLIG1 Synonymous SNV L202L 0.022 0.008 0.031 10 26 3 0.026 9 1 0 0 0 7.319 70934 chr2 179407041 179407041 C T rs201364164 TTN Nonsynonymous SNV G23416E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24.4 70935 chr13 77663138 77663138 C T rs34700794 MYCBP2 Synonymous SNV P3518P 0.024 0.021 0.054 12 28 8 0.031 16 2 1 0 0 18.97 70936 chr13 77900848 77900848 T A rs117722214 MYCBP2 Synonymous SNV G21G 0.03 0.034 0.048 21 35 13 0.054 14 4 3 1 2 18.97 70937 chr12 19512464 19512464 T C rs750935150 PLEKHA5 Nonsynonymous SNV V972A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.493 70938 chr22 30163550 30163550 G A rs904768837 UQCR10 Nonsynonymous SNV A55T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.58 70939 chr12 21011421 21011421 A G rs144099822 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV H64R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 70940 chr21 35208767 35208767 C T ITSN1 Synonymous SNV Y1088Y 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 11.38 70941 chr2 113535653 113535653 C G rs1801715 IL1A Nonsynonymous SNV D176H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.3 70942 chr2 11355037 11355037 T C rs746201358 ROCK2 Nonsynonymous SNV N536S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 2.131 70943 chr22 30921097 30921097 C T SEC14L6 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 70944 chr22 30921676 30921676 T G SEC14L6 Nonsynonymous SNV Y278S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 70945 chr2 179466263 179466263 T C rs886042117 TTN Synonymous SNV K9422K 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 5.167 70946 chr2 179479288 179479288 A G rs72677243 TTN Nonsynonymous SNV I7253T 0.003 0.01 0.007 1 3 4 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.06 70947 chr22 30975865 30975865 G A rs140808409 PES1 Synonymous SNV P404P 0.017 0.008 0.024 4 20 3 0.01 7 0 0 0 0 14.3 70948 chr12 21624439 21624439 T C rs71581968 RECQL Synonymous SNV A530A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 1.314 70949 chr2 179518001 179518001 C A rs781453248 TTN Nonsynonymous SNV A12919S 0 0.005 0 0 0 2 0 0 0 0 0 0 11.25 70950 chr22 31013399 31013399 G A rs76802001 TCN2 Synonymous SNV P341P 0.026 0.016 0.041 5 31 6 0.013 12 0 0 0 0 Benign 7.836 70951 chr2 179632496 179632496 T C rs4893853 TTN Nonsynonymous SNV K3108R 0.024 0.023 0.014 5 28 9 0.013 4 0 0 0 0 Benign/Likely benign 12.66 70952 chr21 47738093 47738093 C A rs149778986 C21orf58 Nonsynonymous SNV G48C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.4 70953 chr2 179633644 179633644 G C rs4894045 TTN Synonymous SNV S2927S 0.024 0.023 0.014 5 28 9 0.013 4 0 0 0 0 Benign/Likely benign 2.269 70954 chr12 22666263 22666263 A G rs34981115 C2CD5 Synonymous SNV L335L 0.009 0.013 0.01 5 11 5 0.013 3 0 0 0 0 7.874 70955 chr2 179638721 179638721 C T rs4894048 TTN Nonsynonymous SNV G2346S 0.025 0.023 0.017 6 29 9 0.015 5 0 0 0 0 Benign/Likely benign 19.1 70956 chr13 98009859 98009859 T C rs147103026 MBNL2 Synonymous SNV L310L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.024 70957 chr2 179584366 179584366 G T rs201766927 TTN Synonymous SNV A6707A 0.004 0.013 0.003 2 5 5 0.005 1 0 0 0 0 Benign/Likely benign 10.55 70958 chr22 31621805 31621805 G A rs765675081 LIMK2 Nonsynonymous SNV R39Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22 70959 chr21 47851662 47851662 C T rs761885630 PCNT Nonsynonymous SNV R2644W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.4 70960 chr2 179612373 179612373 A C rs72648908 TTN Synonymous SNV P4918P 0.006 0.016 0.003 3 7 6 0.008 1 0 0 0 0 Benign/Likely benign 15.42 70961 chr22 26228913 26228913 G A rs34414355 MYO18B Synonymous SNV P1003P 0.036 0.029 0.024 10 42 11 0.026 7 1 0 0 0 11.97 70962 chr2 182394308 182394308 T C rs1143675 ITGA4 Nonsynonymous SNV V824A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 70963 chr21 40568602 40568602 C T rs147384341 BRWD1 Synonymous SNV S2131S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.037 70964 chr12 29446146 29446146 A T rs4280037 LOC100506606 0.015 0.016 0.003 10 18 6 0.026 1 1 0 0 0 3.994 70965 chr14 101138457 101138457 G T rs61990980 LINC00523 0 0 0.092 0 0 0 0 27 0 0 0 0 3.191 70966 chr22 31859859 31859859 A G rs5753627 EIF4ENIF1 Synonymous SNV V131V 0.054 0.089 0.054 27 63 34 0.069 16 2 4 1 1 14.39 70967 chr2 1946771 1946773 TCC - rs764655663 MYT1L E167del 0.013 0.008 0.003 7 15 3 0.018 1 0 0 0 0 70968 chr14 102793210 102793210 C T rs751878037 ZNF839 Nonsynonymous SNV R277C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 70969 chr2 179640529 179640529 C T rs150884428 TTN Nonsynonymous SNV R1975Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 22 70970 chr2 120635074 120635074 A G rs61737537 PTPN4 Synonymous SNV K108K 0.016 0.036 0.02 8 19 14 0.021 6 0 1 0 0 3.246 70971 chr21 41416066 41416066 C T rs16999204 DSCAM Synonymous SNV R1774R 0.013 0.016 0.014 6 15 6 0.015 4 0 0 0 0 14.17 70972 chr21 41447058 41447058 G C rs7275460 DSCAM Synonymous SNV T1598T 0.012 0.016 0.02 5 14 6 0.013 6 0 0 0 0 7.338 70973 chr21 41455854 41455854 G A rs2297263 DSCAM Synonymous SNV N1404N 0.016 0.016 0.031 9 19 6 0.023 9 0 0 0 0 1.559 70974 chr2 179702437 179702437 T C rs13419085 CCDC141 Nonsynonymous SNV N1170S 0.023 0.029 0.024 6 27 11 0.015 7 0 0 0 0 0.001 70975 chr2 179718221 179718221 G A rs150440298 CCDC141 Nonsynonymous SNV P1064L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 70976 chr2 198262759 198262759 A G rs111736429 SF3B1 Synonymous SNV A1072A 0.018 0.018 0.003 3 21 7 0.008 1 0 0 0 0 Benign 4.098 70977 chr22 19748690 19748690 G A rs72646953 TBX1 Synonymous SNV A99A 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 Benign 15.64 70978 chr2 122485435 122485435 C T rs148836478 NIFK Synonymous SNV V249V 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 11.88 70979 chr12 31586071 31586071 G A rs373581432 DENND5B Synonymous SNV S730S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.782 70980 chr22 19906521 19906521 C T rs373979810 TXNRD2 Nonsynonymous SNV R79Q 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Uncertain significance 22.9 70981 chr14 104322983 104322983 C T rs8014294 LINC00637 0 0 0.082 0 0 0 0 24 0 0 11 0 1.451 70982 chr2 201342487 201342487 A G rs11900218 SPATS2L Synonymous SNV E401E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 6.259 70983 chr22 30228238 30228238 G A rs143452344 ASCC2 Nonsynonymous SNV A26V 0.004 0 0 0 5 0 0 0 0 0 0 0 32 70984 chr22 30762178 30762178 G A rs41281643 CCDC157 Synonymous SNV P63P 0.026 0.021 0.02 4 30 8 0.01 6 0 0 0 0 10.29 70985 chr22 30767997 30767997 G A rs41308741 KIAA1656 0.026 0.021 0 4 30 8 0.01 0 0 0 0 0 0.085 70986 chr2 201438365 201438365 T C rs11896759 SGO2 Nonsynonymous SNV I1099T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.65 70987 chr22 30768297 30768297 G C rs41304671 KIAA1656 0.026 0.021 0.014 4 30 8 0.01 4 0 0 0 0 1.481 70988 chr22 20229594 20229594 C G rs142109661 RTN4R Synonymous SNV S354S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.334 70989 chr14 104710360 104710360 C T rs35788973 LINC02691 0 0 0.099 0 0 0 0 29 0 0 7 0 6.08 70990 chr2 202614445 202614445 C T rs201496655 ALS2 Nonsynonymous SNV R602H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 25.7 70991 chr22 37267701 37267701 G A rs150103256 NCF4 Nonsynonymous SNV V160M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 4.579 70992 chr21 43786532 43786532 C T rs117389225 TFF1 Nonsynonymous SNV E25K 0.018 0.016 0.003 2 21 6 0.005 1 0 0 0 0 12.92 70993 chr2 203749135 203749135 T G WDR12 Nonsynonymous SNV S151R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 22.3 70994 chr12 46591506 46591506 A G rs1023122319 SLC38A1 Synonymous SNV I453I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.269 70995 chr14 105707609 105707609 G A rs140813617 BRF1 Synonymous SNV C25C 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Benign 9.399 70996 chr22 37603020 37603020 C T rs376429760 SSTR3 Nonsynonymous SNV V275M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 70997 chr2 186661877 186661877 A C rs182519742 FSIP2 Synonymous SNV L3338L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 0.024 70998 chr22 31485844 31485870 CCTGCCTCTCCTGAGCCTCCATTGGAG - rs778146695 SMTN S269_A277del 0.003 0 0 3 4 0 0.008 0 0 0 0 0 70999 chr21 43897478 43897478 A C rs138007679 RSPH1 Nonsynonymous SNV L179W 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 Benign 23.6 71000 chr2 186667860 186667860 A G rs568020360 FSIP2 Synonymous SNV R4609R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 71001 chr22 38119721 38119721 C T rs116964444 TRIOBP Synonymous SNV D386D 0.009 0.016 0.007 6 11 6 0.015 2 0 0 0 0 Benign 10.42 71002 chr2 192711442 192711442 G A rs61735648 CAVIN2 Synonymous SNV D70D 0.031 0.031 0.007 15 36 12 0.038 2 0 0 0 0 13.13 71003 chr14 20502506 20502506 G C rs140037435 OR4K13 Nonsynonymous SNV P138A 0.01 0.008 0.014 1 12 3 0.003 4 0 0 0 0 0.002 71004 chr14 20528558 20528558 G A rs143026565 OR4L1 Nonsynonymous SNV A119T 0.01 0.008 0.014 1 12 3 0.003 4 0 0 0 0 25.7 71005 chr22 32109763 32109763 T C rs202042910 PRR14L Synonymous SNV Q1354Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.687 71006 chr2 141473624 141473624 T C LRP1B Nonsynonymous SNV R1981G 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 71007 chr2 197521469 197521470 TG - rs143904259 CCDC150 Stop gain C97* 0.009 0.029 0.024 12 11 11 0.031 7 0 1 0 0 71008 chr2 197737686 197737686 T C PGAP1 Synonymous SNV A150A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.07 71009 chr2 187713774 187713774 A C ZSWIM2 Nonsynonymous SNV S28R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 71010 chr22 38240368 38240368 G C rs141002682 MIR658 0.03 0.036 0.027 11 35 14 0.028 8 0 1 0 0 8.107 71011 chr14 20691992 20691992 C A rs141900029 OR11H6 Nonsynonymous SNV Q42K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.96 71012 chr22 38323700 38323700 C T rs2272829 MICALL1 Nonsynonymous SNV P583L 0.024 0.018 0.02 12 28 7 0.031 6 1 1 0 1 14.77 71013 chr2 189904057 189904057 T C COL5A2 Nonsynonymous SNV K1289R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.874 71014 chr22 38477589 38477589 G T rs148254406 SLC16A8 Synonymous SNV G152G 0.031 0.021 0.054 9 36 8 0.023 16 2 1 1 0 10.44 71015 chr2 200820651 200820651 C T rs367784377 MAIP1 Nonsynonymous SNV R44C 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 71016 chr21 45713705 45713705 G A rs553396434 AIRE Nonsynonymous SNV G438R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.99 71017 chr21 45733000 45733000 C T rs140322491 PFKL Synonymous SNV I189I 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 17.96 71018 chr12 49504320 49504320 C T rs768740091 LMBR1L Nonsynonymous SNV E7K 0.011 0.01 0 5 13 4 0.013 0 0 0 0 0 24.4 71019 chr2 210636854 210636854 C T rs145528914 UNC80 Synonymous SNV L20L 0.031 0.047 0.027 14 36 18 0.036 8 1 0 0 0 10.35 71020 chr22 43027415 43027415 C T rs139885016 CYB5R3 Synonymous SNV P65P 0.009 0 0 2 11 0 0.005 0 0 0 0 0 17.99 71021 chr22 37333657 37333657 C A rs1801122 CSF2RB Nonsynonymous SNV P603T 0.043 0.036 0.058 18 50 14 0.046 17 0 1 0 0 Benign 24.8 71022 chr2 152404901 152404901 G A rs35707762 NEB Nonsynonymous SNV T4992I 0.005 0.01 0.003 4 6 4 0.01 1 0 0 0 0 Benign/Likely benign 12.81 71023 chr22 25251027 25251027 T C rs201064977 SGSM1 Synonymous SNV L174L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.821 71024 chr21 46067153 46067153 A T KRTAP10-11 Nonsynonymous SNV T260S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 71025 chr14 20897461 20897461 G C rs372955862 KLHL33 Stop gain Y383X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 71026 chr2 152492771 152492771 C T rs369897667 NEB Synonymous SNV A3024A 0.009 0.013 0 1 11 5 0.003 0 0 0 0 0 Benign/Likely benign 16.37 71027 chr22 38046474 38046474 G A LOC101927051 0.002 0 0 0 2 0 0 0 0 0 0 0 7.416 71028 chr22 44328832 44328832 C T rs34179073 PNPLA3 Synonymous SNV F187F 0.059 0.055 0.048 30 69 21 0.077 14 2 1 1 0 Likely benign 14.19 71029 chr22 28195386 28195386 C A rs45589338 MN1 Nonsynonymous SNV Q382H 0.039 0.047 0.061 12 46 18 0.031 18 1 1 0 0 23.1 71030 chr2 202122956 202122956 T C rs3769824 CASP8 Star tloss M1? 0.026 0.026 0.017 6 30 10 0.015 5 0 0 0 0 Benign 0.002 71031 chr2 206874307 206874307 T C rs144598064 INO80D Nonsynonymous SNV H585R 0.03 0.021 0.01 9 35 8 0.023 3 0 0 0 0 Benign 0.187 71032 chr2 206882530 206882530 G C rs41272653 INO80D Synonymous SNV L472L 0.037 0.031 0.034 14 44 12 0.036 10 0 0 0 0 8.372 71033 chr22 38565347 38565347 C T rs2267369 PLA2G6 Synonymous SNV V29V 0.013 0.016 0.031 1 15 6 0.003 9 0 0 1 0 Benign 10.62 71034 chr22 45122490 45122490 C T rs201344303 PRR5, PRR5-ARHGAP8 Nonsynonymous SNV R5W 0.003 0 0 0 3 0 0 0 0 0 0 0 32 71035 chr2 160086395 160086395 A C rs143241176 TANC1 Synonymous SNV S1285S 0.018 0.026 0.017 7 21 10 0.018 5 0 0 0 0 0.114 71036 chr2 207041602 207041602 T C rs138365581 GPR1 Nonsynonymous SNV S124G 0.02 0.021 0.01 8 24 8 0.021 3 0 0 0 0 25 71037 chr12 52284539 52284539 - GGCCCA rs528277578 ANKRD33 Q84_V85insAQ 0.005 0.008 0 0 6 3 0 0 0 0 0 0 71038 chr22 46346014 46346014 G T WNT7B Synonymous SNV S28S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.252 71039 chr22 40802534 40802534 G T rs773305199 SGSM3 Synonymous SNV L288L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 6.546 71040 chr14 22887569 22887569 C G rs534620284 LOC105370401 0 0 0.003 0 0 0 0 1 0 0 0 0 4.837 71041 chr2 208842276 208842276 C G rs115156379 PLEKHM3 Nonsynonymous SNV K215N 0.008 0.01 0.014 3 9 4 0.008 4 1 0 0 0 23.9 71042 chr22 44131786 44131786 T C rs3747203 EFCAB6 Nonsynonymous SNV R47G 0.091 0.055 0.078 35 107 21 0.09 23 6 0 1 1 23.1 71043 chr2 219222318 219222318 G A rs770061389 CATIP Synonymous SNV G71G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.989 71044 chr22 41735057 41735057 G A rs563396328 ZC3H7B Synonymous SNV T226T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.54 71045 chr22 30928620 30928620 G C rs137955219 SEC14L6 Nonsynonymous SNV S105R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.127 71046 chr2 206921268 206921268 C T rs72946438 INO80D Synonymous SNV P206P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.95 71047 chr2 207007514 207007514 A C rs72944827 NDUFS1 Synonymous SNV G232G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 11.77 71048 chr2 166020952 166020952 C T rs116682517 SCN3A Synonymous SNV T184T 0.011 0.01 0.024 7 13 4 0.018 7 0 0 0 0 Benign 11.85 71049 chr22 31008988 31008988 C T rs200868221 TCN2 Nonsynonymous SNV S129L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 33 71050 chr2 207175476 207175476 G T rs36095066 ZDBF2 Nonsynonymous SNV R2075M 0.011 0.023 0.003 5 13 9 0.013 1 0 0 0 0 Benign 22.7 71051 chr22 17589798 17589798 C T rs146292661 IL17RA Synonymous SNV G529G 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 Benign/Likely benign 10.73 71052 chr22 31487679 31487679 G A rs143097953 SMTN Nonsynonymous SNV R549Q 0.012 0.018 0.007 2 14 7 0.005 2 0 0 0 0 33 71053 chr22 45726537 45726537 C T rs199698309 FAM118A Synonymous SNV G118G 0.006 0 0 0 7 0 0 0 0 0 0 0 8.95 71054 chr22 31521595 31521595 C A rs41282561 INPP5J Nonsynonymous SNV S290R 0.014 0.005 0.014 4 16 2 0.01 4 0 0 0 0 19.08 71055 chr22 18121587 18121587 G T rs1004733124 BCL2L13 Nonsynonymous SNV G43V 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 4.882 71056 chr2 21225912 21225912 C T rs1801703 APOB Nonsynonymous SNV V4128M 0.008 0.018 0.01 2 9 7 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 71057 chr2 21229609 21229609 C T rs1799812 APOB Synonymous SNV L3377L 0.008 0.018 0.01 2 9 7 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 5.378 71058 chr2 209104603 209104603 C T rs148160119 IDH1 Synonymous SNV T325T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 20.4 71059 chr22 44031042 44031042 T C rs137731 EFCAB6 Nonsynonymous SNV T528A 0.011 0.021 0.02 12 13 8 0.031 6 0 0 0 2 0.002 71060 chr2 170030639 170030639 C T rs144081819 LRP2 Nonsynonymous SNV A3602T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign/Likely benign 22.9 71061 chr2 170115537 170115537 G A rs375313914 LRP2 Synonymous SNV A837A 0.005 0.013 0.003 2 6 5 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.51 71062 chr22 19263266 19263266 C A rs34869740 CLTCL1 Nonsynonymous SNV V44F 0.013 0.021 0.014 7 15 8 0.018 4 0 0 0 0 22.9 71063 chr22 19753961 19753961 A G rs13054377 TBX1 Synonymous SNV A353A 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 Benign 0.318 71064 chr22 47070642 47070642 G A rs144224839 GRAMD4 Synonymous SNV T517T 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 14.75 71065 chr22 47287186 47287186 C T rs142211618 TBC1D22A Nonsynonymous SNV R167W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 71066 chr14 24805463 24805463 G T rs3212254 RIPK3 Nonsynonymous SNV P492Q 0.055 0.057 0.061 18 64 22 0.046 18 2 0 1 0 12.56 71067 chr2 170885930 170885930 C A rs77587723 UBR3 Nonsynonymous SNV L1510I 0.016 0.021 0.01 5 19 8 0.013 3 0 0 0 0 31 71068 chr22 20050943 20050943 C T rs140525489 TANGO2 Nonsynonymous SNV R168C 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 35 71069 chr2 212288901 212288901 C T rs376298364 ERBB4 Nonsynonymous SNV V949I 0 0.008 0 0 0 3 0 0 0 0 0 0 26.4 71070 chr2 101009869 101009869 C T rs148920749 CHST10 Synonymous SNV V303V 0.006 0 0.003 0 7 0 0 1 0 0 0 0 11.25 71071 chr22 36122811 36122811 G A rs4821441 APOL5 Synonymous SNV K232K 0.077 0.104 0.092 31 90 40 0.079 27 4 1 1 2 3.58 71072 chr22 21406590 21406590 C T rs765363659 LRRC74B Synonymous SNV N225N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.56 71073 chr22 50472838 50472838 G A rs76786083 TTLL8 Synonymous SNV D345D 0.014 0.008 0 8 16 3 0.021 0 0 0 0 0 4.638 71074 chr2 101624526 101624526 A G rs78831774 TBC1D8 Synonymous SNV F1060F 0.016 0.008 0.003 7 19 3 0.018 1 0 0 0 0 Benign 1.51 71075 chr22 36680195 36680195 G A rs145444485 MYH9 Synonymous SNV A1903A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 12.33 71076 chr22 36682869 36682869 G A rs148632964 MYH9 Synonymous SNV R1652R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 15.5 71077 chr2 174943756 174943756 A G rs61737492 OLA1 Synonymous SNV I185I 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 4.26 71078 chr2 219248982 219248982 G C SLC11A1 Nonsynonymous SNV R56P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 71079 chr22 36902101 36902101 G A rs201582388 FOXRED2 Synonymous SNV R123R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.71 71080 chr2 17698736 17698736 - T rs760866110 RAD51AP2 Frameshift insertion T316Nfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 71081 chr2 176995559 176995559 G A rs147014120 HOXD8 Synonymous SNV E155E 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 8.475 71082 chr12 53491717 53491717 G A rs11544717 IGFBP6 Synonymous SNV G72G 0.009 0 0.003 0 10 0 0 1 0 0 0 0 11.3 71083 chr22 50714320 50714320 C T rs149124212 PLXNB2 Nonsynonymous SNV E1804K 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 28.1 71084 chr2 219457350 219457350 C T rs192118392 CNOT9 Synonymous SNV V217V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.65 71085 chr22 37471208 37471208 G A rs117576908 TMPRSS6 Nonsynonymous SNV R437W 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 Benign/Likely benign 27.1 71086 chr22 37581271 37581271 G A rs77643619 C1QTNF6 Synonymous SNV I92I 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Benign 9.681 71087 chr2 179395560 179395560 G A rs16866380 TTN Nonsynonymous SNV P26196L 0.059 0.029 0.031 23 69 11 0.059 9 1 0 1 0 Benign/Likely benign 23.1 71088 chr2 228228462 228228462 T G rs137891000 TM4SF20 Nonsynonymous SNV K223T 0.01 0.005 0.007 1 12 2 0.003 2 0 0 0 0 21.2 71089 chr2 179398509 179398509 C A rs3731752 TTN Nonsynonymous SNV G25213V 0.057 0.029 0.027 22 67 11 0.056 8 1 0 0 0 Benign/Likely benign 22.5 71090 chr2 179400895 179400895 C T rs2278196 TTN Nonsynonymous SNV V24462I 0.043 0.026 0.024 20 51 10 0.051 7 0 0 1 0 Benign/Likely benign 23.1 71091 chr2 1079321 1079321 G A rs202234249 SNTG2 Nonsynonymous SNV G64R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.3 71092 chr2 179404628 179404628 T A rs72648270 TTN Nonsynonymous SNV I23657F 0.043 0.026 0.024 20 51 10 0.051 7 0 0 1 0 Benign/Likely benign 21.8 71093 chr2 179411195 179411195 G A rs373871146 TTN Synonymous SNV H22556H 0.014 0.008 0.007 5 17 3 0.013 2 0 0 1 0 Conflicting interpretations of pathogenicity 11.13 71094 chr22 51159180 51159180 C T rs760688077 SHANK3 Synonymous SNV S1034S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.9 71095 chr22 24718738 24718738 A G SPECC1L Nonsynonymous SNV H597R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 71096 chr2 109086814 109086814 A G rs61729897 GCC2 Synonymous SNV E343E 0.014 0.013 0.024 5 17 5 0.013 7 0 1 0 0 Benign 0.359 71097 chr2 179434516 179434516 C T rs3813243 TTN Nonsynonymous SNV S16383N 0.059 0.029 0.031 23 69 11 0.059 9 1 0 1 0 Benign/Likely benign 18.91 71098 chr22 26166953 26166981 TGAGTCCCCTGTCCCGCCGTCCCCCAGCA - rs567600063 MYO18B 0.003 0 0 4 3 0 0.01 0 0 0 0 0 71099 chr2 219603453 219603453 C T TTLL4 Nonsynonymous SNV P352S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 71100 chr2 219614837 219614837 C T rs139679041 TTLL4 Synonymous SNV S947S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.16 71101 chr2 219824667 219824667 C T rs200705478 CDK5R2 Nonsynonymous SNV P42L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 71102 chr22 50216754 50216754 G A rs2239848 BRD1 Synonymous SNV V404V 0.028 0.029 0.007 21 33 11 0.054 2 0 0 0 0 6.658 71103 chr14 45580129 45580129 A G rs75940101 SNORD127 0 0 0.044 0 0 0 0 13 0 0 2 0 6.501 71104 chr14 45653042 45653042 C G rs143239291 FANCM Nonsynonymous SNV F1458L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.603 71105 chr12 55969074 55969074 C A rs568308315 OR2AP1 Nonsynonymous SNV N292K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 71106 chr12 56075594 56075594 T A rs144316983 METTL7B Nonsynonymous SNV L19Q 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 23.6 71107 chr2 11053937 11053937 C T rs140683647 KCNF1 Nonsynonymous SNV P462L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.389 71108 chr22 26860200 26860200 G A rs147435410 HPS4 Nonsynonymous SNV R461C 0.011 0.01 0.003 2 13 4 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.02 71109 chr14 50433227 50433227 G C rs35650931 MIR6076 0 0 0.061 0 0 0 0 18 0 0 1 0 7.734 71110 chr22 26866723 26866723 C T rs13054747 HPS4 Synonymous SNV S181S 0.04 0.044 0.048 14 47 17 0.036 14 0 1 1 0 Benign/Likely benign 18.88 71111 chr2 112922697 112922697 G A rs35586251 FBLN7 Nonsynonymous SNV V119M 0.036 0.042 0.031 7 42 16 0.018 9 2 0 0 0 22.8 71112 chr2 102851496 102851496 C T rs35960329 IL1RL2 Synonymous SNV D337D 0.02 0.01 0 1 23 4 0.003 0 1 0 0 0 14.85 71113 chr22 39883797 39883797 C A rs979603674 MGAT3 Nonsynonymous SNV P149T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 71114 chr2 220085975 220085975 C T rs201843079 ATG9A Nonsynonymous SNV R732H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 71115 chr2 11347941 11347941 T G rs55931955 ROCK2 Synonymous SNV L734L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.605 71116 chr22 50518820 50518820 G A rs121908345 MLC1 Nonsynonymous SNV P92S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely pathogenic 26.8 71117 chr2 234171812 234171812 A G rs13011156 ATG16L1 Synonymous SNV L82L 0.092 0.104 0.099 35 108 40 0.09 29 4 3 1 2 10.33 71118 chr2 113994170 113994170 C A PAX8-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 10.66 71119 chr12 57406650 57406650 T C rs143862988 TAC3 Nonsynonymous SNV H83R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 22.9 71120 chr2 180634321 180634321 G A rs61744327 ZNF385B Synonymous SNV N69N 0.02 0.018 0.007 7 23 7 0.018 2 0 0 0 0 Benign 6.047 71121 chr2 234676880 234676880 C T rs55750087 UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Nonsynonymous SNV R367C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 31 71122 chr2 10923353 10923353 T C rs17364812 ATP6V1C2 Synonymous SNV Y370Y 0.04 0.063 0.071 20 47 24 0.051 21 2 1 0 1 0.111 71123 chr2 18112458 18112458 T C rs7569719 KCNS3 Synonymous SNV S61S 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 0.018 71124 chr2 223169150 223169150 G T rs10210219 CCDC140 0.018 0.018 0.037 9 21 7 0.023 11 4 2 4 2 2.143 71125 chr2 18113420 18113420 C T rs34658212 KCNS3 Nonsynonymous SNV A382V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.797 71126 chr22 50898533 50898533 G A rs149160974 SBF1 Synonymous SNV S1114S 0.006 0 0.01 4 7 0 0.01 3 0 0 0 0 Benign 13.94 71127 chr2 224462310 224462310 G A rs36043001 SCG2 Nonsynonymous SNV P564L 0.014 0.023 0.027 4 17 9 0.01 8 0 0 0 0 9.293 71128 chr12 58164904 58164904 T C rs536860729 METTL1 Nonsynonymous SNV I83V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.99 71129 chr2 234891837 234891837 C T TRPM8 Synonymous SNV A910A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 15.39 71130 chr14 57279993 57279994 GG - rs770821993 OTX2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 71131 chr14 57279994 57279994 G C OTX2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 71132 chr2 237123277 237123277 C T rs1030515431 ASB18 Nonsynonymous SNV A277T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.58 71133 chr2 220473929 220473929 T G rs35240018 STK11IP Synonymous SNV A640A 0.027 0.023 0.037 6 32 9 0.015 11 2 0 0 0 7.554 71134 chr2 121747433 121747433 C T rs114376238 GLI2 Nonsynonymous SNV P1173S 0.024 0.029 0.017 2 28 11 0.005 5 1 1 0 0 Benign/Likely benign 0.095 71135 chr12 66707808 66707808 A G rs58589183 HELB Nonsynonymous SNV T575A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.021 71136 chr2 186654086 186654086 A G rs532329573 FSIP2 Synonymous SNV E741E 0.008 0.005 0 1 9 2 0.003 0 1 0 0 0 0.004 71137 chr12 66725301 66725301 T C rs73329073 HELB Nonsynonymous SNV F1013S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.038 71138 chr22 44368859 44368859 C T rs771203161 SAMM50 Nonsynonymous SNV R180W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25 71139 chr2 239007022 239007022 C T rs74695332 UBE2F-SCLY 0.013 0.008 0.003 6 15 3 0.015 1 0 0 0 0 6.314 71140 chr2 10050877 10050877 G A rs61743065 TAF1B Nonsynonymous SNV S68N 0.031 0.018 0.01 8 36 7 0.021 3 1 0 0 0 0.003 71141 chr2 10050878 10050878 C T rs61743064 TAF1B Synonymous SNV S68S 0.031 0.018 0.01 8 36 7 0.021 3 1 0 0 0 8.999 71142 chr2 128528508 128528508 C T rs55916728 WDR33 Synonymous SNV R16R 0.02 0.018 0.01 6 23 7 0.015 3 0 0 0 0 13.18 71143 chr14 60591502 60591502 T G rs756328511 PCNX4 Synonymous SNV P637P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 71144 chr2 11810166 11810166 C T rs186016078 NTSR2 Stop gain W30X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 71145 chr2 231067362 231067362 A G rs202198335 SP110 Synonymous SNV C327C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.049 71146 chr12 70049466 70049466 T G rs145485765 BEST3 Synonymous SNV R197R 0.01 0.008 0.003 1 12 3 0.003 1 0 0 0 0 0.047 71147 chr12 70953189 70953189 C T rs111874833 PTPRB Nonsynonymous SNV V1242I 0.014 0.016 0.007 8 17 6 0.021 2 0 0 0 0 19.08 71148 chr14 62120767 62120767 T G rs698027 FLJ22447 0 0 0.078 0 0 0 0 23 0 0 10 0 0.455 71149 chr2 186672353 186672353 C T rs371646011 FSIP2 Nonsynonymous SNV T6107I 0.008 0.005 0 1 9 2 0.003 0 1 0 0 0 0.003 71150 chr2 135740863 135740863 C A rs79960383 MAP3K19 Nonsynonymous SNV Q1104H 0.018 0.005 0.01 1 21 2 0.003 3 0 0 0 0 10.95 71151 chr2 135744007 135744007 T C rs3905317 MAP3K19 Nonsynonymous SNV E699G 0.018 0.005 0.01 1 21 2 0.003 3 0 0 0 0 23.4 71152 chr22 37334250 37334250 G A rs1801116 CSF2RB Synonymous SNV P800P 0.038 0.044 0.031 15 45 17 0.038 9 1 0 0 0 Benign 7.398 71153 chr2 125504881 125504881 T C rs35085748 CNTNAP5 Nonsynonymous SNV V718A 0.02 0.026 0.014 11 23 10 0.028 4 1 0 0 1 Benign 0.023 71154 chr2 135744416 135744416 C G rs1112542 MAP3K19 Nonsynonymous SNV E563Q 0.019 0.005 0.01 1 22 2 0.003 3 0 0 0 0 16.6 71155 chr2 241874404 241874404 C T CROCC2 Synonymous SNV D621D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.446 71156 chr2 241907640 241907640 G A rs564246487 CROCC2 Synonymous SNV A1454A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.288 71157 chr2 128774051 128774051 G T rs142387541 SAP130 Nonsynonymous SNV P166H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 71158 chr14 64641771 64641771 G A SYNE2 Nonsynonymous SNV R5782K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 71159 chr2 234357838 234357838 C G rs2228937 DGKD Synonymous SNV P524P 0.006 0.003 0.017 0 7 1 0 5 0 0 0 0 Benign 6.679 71160 chr2 231742138 231742138 G A rs34910213 ITM2C Synonymous SNV T148T 0.009 0.013 0.014 8 11 5 0.021 4 0 1 0 0 14.36 71161 chr22 50278446 50278446 C T rs145976876 ZBED4 Nonsynonymous SNV P379L 0.011 0.008 0.003 4 13 3 0.01 1 0 0 0 0 0.003 71162 chr22 38111776 38111776 G A TRIOBP Nonsynonymous SNV D155N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 71163 chr2 136594362 136594362 C T LCT Synonymous SNV Q126Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.02 71164 chr2 231974056 231974056 A G rs139381111 HTR2B Synonymous SNV C207C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.006 71165 chr2 131688594 131688594 A T rs761262844 ARHGEF4 Nonsynonymous SNV M1208L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.086 71166 chr2 232458118 232458118 G A rs148263921 TEX44 Synonymous SNV P152P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.099 71167 chr14 65262093 65262093 C T rs145675502 SPTB Nonsynonymous SNV D536N 0.001 0.005 0.003 7 1 2 0.018 1 0 0 0 0 Uncertain significance 26.1 71168 chr2 242707195 242707195 C A rs143940595 D2HGDH Synonymous SNV P325P 0.007 0.016 0.003 9 8 6 0.023 1 0 0 0 0 Benign 13.41 71169 chr2 233347615 233347615 C T rs755908082 ECEL1 Nonsynonymous SNV R544H 0.003 0.008 0 0 4 3 0 0 0 1 0 0 24 71170 chr2 242742842 242742842 A G rs139344622 GAL3ST2 Nonsynonymous SNV Y153C 0.007 0.01 0.007 5 8 4 0.013 2 1 0 0 0 26.6 71171 chr14 68028933 68028933 G A rs759460111 PLEKHH1 Synonymous SNV P195P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.933 71172 chr12 86199114 86199114 T C rs199576709 RASSF9 Nonsynonymous SNV N225S 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 5.74 71173 chr2 25384113 25384113 T C rs80326661 POMC Nonsynonymous SNV E214G 0.002 0.013 0 0 2 5 0 0 0 0 0 0 Likely benign 0.904 71174 chr2 234460023 234460023 T C rs371263209 USP40 Nonsynonymous SNV Q279R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 71175 chr22 50727461 50727461 C T rs555577276 PLXNB2 Synonymous SNV T393T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 13.86 71176 chr2 136562412 136562412 C T rs762108153 LCT Synonymous SNV R1463R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 71177 chr2 113081956 113081956 C T rs533968350 ZC3H6 Nonsynonymous SNV P523L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 71178 chr2 113089187 113089187 A G rs552624659 ZC3H6 Nonsynonymous SNV I898V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 71179 chr2 15448469 15448469 A G rs140727323 NBAS Synonymous SNV D1556D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.567 71180 chr22 40075363 40075363 G A rs370042686 CACNA1I Synonymous SNV P1734P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.124 71181 chr2 239039981 239039981 A G rs149541007 ESPNL Nonsynonymous SNV K508E 0.016 0.018 0.034 9 19 7 0.023 10 0 0 0 0 23.1 71182 chr22 40161342 40161343 GA - rs200712517 ENTHD1 P369Lfs*6 0.003 0 0 3 4 0 0.008 0 0 0 0 0 71183 chr22 50988317 50988317 C T rs148213739 KLHDC7B Synonymous SNV T1215T 0.01 0.013 0.01 5 12 5 0.013 3 1 0 0 0 7.656 71184 chr14 73425432 73425432 G C rs2535908 DCAF4 Synonymous SNV S409S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.484 71185 chr22 51021265 51021284 GCTCGGTTCCTTCCGGCCGC - rs144647670 CHKB-CPT1B 0.021 0.023 0.031 24 25 9 0.062 9 2 0 0 1 71186 chr2 20205543 20205543 A G rs368478331 MATN3 Nonsynonymous SNV I251T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.8 71187 chr2 239148535 239148535 G C rs1047589 HES6 Synonymous SNV P4P 0.08 0.086 0.068 20 94 33 0.051 20 4 4 4 1 11.86 71188 chr22 41613144 41613144 G A rs774647469 L3MBTL2 Nonsynonymous SNV D180N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.9 71189 chr2 113832774 113832774 C T rs138974369 IL1F10 Nonsynonymous SNV R98C 0.009 0.01 0.01 1 10 4 0.003 3 0 0 0 0 28.2 71190 chr14 73743458 73743458 C T rs17781919 NUMB Nonsynonymous SNV G536D 0.022 0.01 0.02 13 26 4 0.033 6 0 0 0 0 15.41 71191 chr22 41650418 41650420 TCC - rs539464865 RANGAP1 E397del 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 71192 chr2 202512449 202512449 C T rs11894115 MPP4 Nonsynonymous SNV V562I 0.017 0.013 0.037 1 20 5 0.003 11 0 0 1 0 16.41 71193 chr22 42611145 42611150 CCACTG - rs541147459 TCF20 S55_G56del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 71194 chr2 101606810 101606810 G A rs1053091 NPAS2 Synonymous SNV A640A 0.017 0.008 0.01 6 20 3 0.015 3 1 0 0 0 10.19 71195 chr12 101680131 101680131 T C rs2290723 UTP20 Nonsynonymous SNV M120T 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 0.001 71196 chr12 101685783 101685783 C T rs3759365 UTP20 Synonymous SNV S358S 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 4.439 71197 chr2 203424500 203424500 G A rs148099152 BMPR2 Nonsynonymous SNV R983Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 71198 chr12 101723197 101723197 C T rs74363467 UTP20 Synonymous SNV T1129T 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 10.95 71199 chr2 152528910 152528910 C G rs35654397 NEB Synonymous SNV T1424T 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.786 71200 chr12 101734349 101734349 G A rs80192523 UTP20 Synonymous SNV T1354T 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 7.63 71201 chr2 102019129 102019129 C T rs201832728 RFX8 Synonymous SNV E167E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 14.32 71202 chr12 101755809 101755809 T C rs12309241 UTP20 Synonymous SNV L1921L 0.025 0.018 0.041 6 29 7 0.015 12 0 0 1 0 8.322 71203 chr12 101757446 101757446 T C rs2305863 UTP20 Synonymous SNV S1961S 0.007 0.008 0.02 2 8 3 0.005 6 0 0 0 0 5.875 71204 chr12 101777002 101777002 G A rs148427016 UTP20 Nonsynonymous SNV G2614S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 2.778 71205 chr2 10220247 10220247 C A rs192172817 CYS1 Nonsynonymous SNV R35L 0.004 0.008 0 2 5 3 0.005 0 1 1 0 1 13.86 71206 chr12 102064137 102064137 A C MYBPC1 Nonsynonymous SNV T804P 0.002 0 0 0 2 0 0 0 0 0 0 0 25 71207 chr2 103317676 103317676 A G rs17776702 SLC9A2 Synonymous SNV T578T 0.012 0.021 0.024 11 14 8 0.028 7 0 1 0 0 0.028 71208 chr2 167262838 167262838 G C rs1016261512 SCN7A Nonsynonymous SNV A1434G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 71209 chr2 242380800 242380800 C T rs2302014 FARP2 Synonymous SNV L414L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.246 71210 chr2 23914613 23914613 C T rs372774137 KLHL29 Synonymous SNV D383D 0.001 0.008 0 6 1 3 0.015 0 0 0 0 0 12.06 71211 chr2 239161957 239161957 C T rs35333999 PER2 Nonsynonymous SNV V903I 0.035 0.034 0.034 11 41 13 0.028 10 1 0 0 0 16.21 71212 chr14 78205172 78205172 G A SNW1 Nonsynonymous SNV A161V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 71213 chr2 32983480 32983480 G A rs2273664 TTC27 Nonsynonymous SNV R475H 0.065 0.068 0.058 20 76 26 0.051 17 3 1 1 1 26.6 71214 chr12 106641204 106641204 C T rs188646596 CKAP4 Synonymous SNV Q142Q 0.003 0 0 0 3 0 0 0 0 0 0 0 15.94 71215 chr2 33572566 33572566 G A rs141080282 LTBP1 Nonsynonymous SNV R962Q 0.021 0.026 0.02 9 25 10 0.023 6 1 1 0 0 Likely benign 24.2 71216 chr22 45258401 45258401 C T rs147816304 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV R410W 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 23.2 71217 chr22 45608192 45608192 G A rs11913944 KIAA0930 Synonymous SNV N11N 0.014 0 0.02 4 16 0 0.01 6 1 0 0 0 0.237 71218 chr2 3428410 3428410 C A rs776815332 TRAPPC12 Nonsynonymous SNV P465T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.3 71219 chr2 36704117 36704117 C T rs145972275 CRIM1 Synonymous SNV C359C 0.014 0.026 0.003 4 16 10 0.01 1 0 1 0 0 Benign 14.06 71220 chr22 45768083 45768083 T C rs200323510 SMC1B Synonymous SNV Q716Q 0.009 0.021 0 4 11 8 0.01 0 0 0 0 0 0.732 71221 chr2 36704129 36704129 T A rs6730889 CRIM1 Synonymous SNV V363V 0.014 0.034 0.02 6 17 13 0.015 6 0 0 0 0 9.975 71222 chr2 209163383 209163383 C T PIKFYVE Synonymous SNV N213N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.46 71223 chr2 26700309 26700309 C T rs80356592 OTOF Nonsynonymous SNV R104H 0.004 0.003 0 0 5 1 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 35 71224 chr12 109838907 109838907 G A rs775945838 MYO1H Nonsynonymous SNV V178I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.52 71225 chr12 109845669 109845669 G A rs201423135 MYO1H Nonsynonymous SNV R353Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27.4 71226 chr2 174086201 174086201 - GATGAT MAP3K20 D443_G444insDD 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 71227 chr2 210887737 210887737 G A rs151211217 KANSL1L Nonsynonymous SNV S925L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.52 71228 chr12 110206871 110206871 G A rs111838477 FAM222A Synonymous SNV E379E 0.012 0.01 0.003 0 14 4 0 1 0 0 0 0 Benign 0.144 71229 chr2 211085491 211085491 G A rs61731470 ACADL Nonsynonymous SNV T38I 0.039 0.021 0.044 15 46 8 0.038 13 1 0 0 0 Likely benign 17.5 71230 chr2 167262238 167262238 C T rs80098689 SCN7A Nonsynonymous SNV R1634H 0.009 0 0.007 1 11 0 0.003 2 0 0 0 0 33 71231 chr2 113942987 113942987 C T PSD4 Nonsynonymous SNV P407S 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 0.478 71232 chr14 92472186 92472186 C T rs143524436 TRIP11 Nonsynonymous SNV E711K 0.01 0.013 0.003 9 12 5 0.023 1 0 0 0 0 Benign/Likely benign 22.8 71233 chr2 136605647 136605647 C G rs756785273 MCM6 Nonsynonymous SNV D677H 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 23 71234 chr2 136742939 136742939 T C rs2278681 DARS-AS1 0.03 0.021 0.044 13 35 8 0.033 13 1 0 0 0 8.13 71235 chr2 168101386 168101386 G A rs76672761 XIRP2 Nonsynonymous SNV V940I 0.011 0.008 0.01 1 13 3 0.003 3 0 0 0 0 25.5 71236 chr2 39088323 39088323 G A rs11893062 DHX57 Nonsynonymous SNV S308F 0.041 0.034 0.034 17 48 13 0.044 10 2 0 0 0 27.3 71237 chr2 27804358 27804381 GTCCCTCTCAGAGAAGACATCACA - rs780421109 C2orf16 Q1643_S1650del 0.011 0.026 0.007 5 13 10 0.013 2 0 0 0 0 71238 chr2 17698085 17698085 C T rs62130402 RAD51AP2 Nonsynonymous SNV C533Y 0.025 0.026 0.003 6 29 10 0.015 1 0 2 0 0 0.002 71239 chr2 17698091 17698091 G A rs62130403 RAD51AP2 Nonsynonymous SNV T531I 0.021 0.023 0.01 5 25 9 0.013 3 0 2 0 0 0.037 71240 chr2 39213258 39213258 G C rs371408734 SOS1 Nonsynonymous SNV P1237A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 71241 chr2 17699140 17699140 T G RAD51AP2 Nonsynonymous SNV Q181H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 71242 chr14 93685626 93685626 T C rs142522794 UBR7 Synonymous SNV A293A 0.014 0.016 0.024 6 17 6 0.015 7 0 0 0 1 1.963 71243 chr2 11955322 11955322 G C rs61732581 LPIN1 Synonymous SNV G750G 0.011 0.013 0 1 13 5 0.003 0 0 0 0 0 Benign 0.244 71244 chr2 178095738 178095738 A G rs981475836 NFE2L2 Synonymous SNV H501H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.019 71245 chr2 29221040 29221040 C T rs72786173 TOGARAM2 Synonymous SNV C20C 0.016 0.013 0.017 4 19 5 0.01 5 0 0 0 0 10.46 71246 chr22 47103744 47103744 G A rs61748564 CERK Synonymous SNV P237P 0.005 0.008 0.003 9 6 3 0.023 1 0 0 0 0 10.19 71247 chr2 215852398 215852398 T C rs145178648 ABCA12 Nonsynonymous SNV M999V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 9.448 71248 chr14 94391705 94391705 A T rs117161928 FAM181A Nonsynonymous SNV T30S 0.029 0.029 0.034 9 34 11 0.023 10 0 0 0 0 0.001 71249 chr2 178936272 178936272 T C rs78328794 PDE11A Nonsynonymous SNV N298S 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 16.38 71250 chr2 26534112 26534112 G A rs77088392 ADGRF3 Synonymous SNV G629G 0.028 0.031 0.037 15 33 12 0.038 11 2 0 0 0 0.731 71251 chr12 117204666 117204666 G A rs113021396 RNFT2 Synonymous SNV A225A 0.042 0.042 0.034 14 49 16 0.036 10 1 0 0 1 15.34 71252 chr22 50472895 50472895 C T rs376209219 TTLL8 Synonymous SNV S326S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 15.98 71253 chr12 117768455 117768455 C T rs9658278 NOS1 Synonymous SNV P140P 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 Benign 10.35 71254 chr14 95109833 95109833 G A rs17826595 SERPINA13P 0 0 0.075 0 0 0 0 22 0 0 2 0 3.785 71255 chr2 179433163 179433163 T A rs750227997 TTN Nonsynonymous SNV K16834I 0.003 0 0 0 3 0 0 0 0 0 0 0 20.2 71256 chr2 33572555 33572555 G A rs6706620 LTBP1 Synonymous SNV Q958Q 0.109 0.107 0.112 35 128 41 0.09 33 6 2 0 1 10.3 71257 chr2 154334974 154334974 C T rs766501514 RPRM Nonsynonymous SNV V36M 0.004 0 0 0 5 0 0 0 0 0 0 0 31 71258 chr2 219301227 219301227 A G rs141936274 VIL1 Nonsynonymous SNV I617V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.828 71259 chr2 15542337 15542337 C G rs74411619 NBAS Nonsynonymous SNV C1009S 0.01 0.008 0.003 4 12 3 0.01 1 0 0 0 0 0.003 71260 chr14 95999820 95999820 T C rs3825546 SCARNA13, SNHG10 0 0 0.357 0 0 0 0 105 0 0 13 0 8.351 71261 chr2 15555762 15555762 C G rs74727069 NBAS Nonsynonymous SNV V949L 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 14.86 71262 chr2 3691635 3691635 C T rs140226372 COLEC11 Nonsynonymous SNV S174L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 32 71263 chr2 179479651 179479651 C T rs368806005 TTN Nonsynonymous SNV R7163H 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 71264 chr2 15613460 15613460 T C rs35454315 NBAS Synonymous SNV E537E 0.01 0.008 0.003 4 12 3 0.01 1 0 0 0 0 0.68 71265 chr2 27671846 27671846 C T rs747215055 IFT172 Nonsynonymous SNV R1455Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 71266 chr22 50964464 50964464 C T rs932099850 TYMP Synonymous SNV E422E 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Likely benign 5.341 71267 chr2 17830696 17830696 C A VSNL1 Nonsynonymous SNV A61D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 71268 chr2 159517926 159517926 C T rs112890651 PKP4 Synonymous SNV I725I 0.015 0.029 0.017 4 18 11 0.01 5 0 0 0 0 Benign 20.1 71269 chr2 179584947 179584947 T A rs780407852 TTN Nonsynonymous SNV I6564F 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.054 71270 chr12 121678327 121678327 - TTTT rs778701848 CAMKK2 Frameshift insertion G539Kfs*4 0.054 0.042 0.041 19 63 16 0.049 12 2 0 0 1 71271 chr2 287768 287768 C G rs750522345 ALKAL2 Nonsynonymous SNV R23P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.84 71272 chr2 179593658 179593658 C T rs918079102 TTN Synonymous SNV E5125E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11 71273 chr15 100890190 100890190 C A rs2289585 SPATA41 0 0 0.034 0 0 0 0 10 0 0 0 0 8.191 71274 chr2 179406044 179406044 C T rs55704830 TTN Nonsynonymous SNV R23522H 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 71275 chr15 101094071 101094071 - CACACA PRKXP1 0 0 0.014 0 0 0 0 4 0 0 2 0 71276 chr15 101099378 101099378 C T rs2270998 PRKXP1 0 0 0.095 0 0 0 0 28 0 0 2 0 0.666 71277 chr15 101099427 101099427 G A rs2270997 PRKXP1 0 0 0.071 0 0 0 0 21 0 0 2 0 2.963 71278 chr15 101109866 101109866 C A rs146405261 LINS1 Synonymous SNV L617L 0.003 0 0.014 1 4 0 0.003 4 0 0 0 0 Likely benign 12.58 71279 chr2 61415378 61415378 T G rs188614804 USP34 Nonsynonymous SNV L3500F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 71280 chr15 101514113 101514113 G A rs56289455 LRRK1 Nonsynonymous SNV G68S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.772 71281 chr2 43903262 43903262 C A rs74589926 C1GALT1C1L Nonsynonymous SNV S67I 0.022 0.018 0.027 8 26 7 0.021 8 0 0 0 0 11.34 71282 chr2 43927027 43927027 A G rs17335882 PLEKHH2 Synonymous SNV T310T 0.01 0.013 0.014 4 12 5 0.01 4 0 0 0 0 0.008 71283 chr2 43927275 43927275 A T PLEKHH2 Nonsynonymous SNV Q393L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.9 71284 chr2 67624779 67624779 C T rs114064178 ETAA1 Synonymous SNV L67L 0.022 0.013 0.007 7 26 5 0.018 2 0 0 0 0 10.14 71285 chr12 123355562 123355562 C T rs747470352 VPS37B Nonsynonymous SNV R53Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 71286 chr2 163200779 163200779 A - GCA G8Efs*70 0.001 0 0 1 1 0 0.003 0 0 0 0 0 71287 chr2 1648512 1648512 C A rs61731247 PXDN Synonymous SNV S1207S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 12.37 71288 chr15 21937097 21937097 G A rs4984135 LOC646214 0 0 0.116 0 0 0 0 34 0 0 1 0 2.018 71289 chr15 21937334 21937334 A G rs8035380 LOC646214 0 0 0.109 0 0 0 0 32 0 0 0 0 0.16 71290 chr2 14774623 14774623 G A rs201168104 LRATD1 Nonsynonymous SNV V174M 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 24.5 71291 chr2 46707812 46707812 - GCAGCACGAGGTGGCGATGGAGCAGCTGCAGCGGGAGCA rs775332040 TMEM247 V133_V134insAMEQLQREQQHEV 0.019 0.016 0.01 8 22 6 0.021 3 0 0 0 0 71292 chr2 165765194 165765194 C A rs141629634 SLC38A11 Nonsynonymous SNV V229L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 20.3 71293 chr15 21938081 21938081 C T rs113837443 LOC646214 0 0 0.024 0 0 0 0 7 0 0 0 0 8.855 71294 chr2 182403862 182403862 C T rs745776257 CERKL Nonsynonymous SNV V386I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 71295 chr15 21938114 21938114 T C rs2343905 LOC646214 0 0 0.612 0 0 0 0 180 0 0 68 0 7.135 71296 chr15 21938136 21938136 A T rs4247058 LOC646214 0 0 0.636 0 0 0 0 187 0 0 93 0 0.808 71297 chr2 165772426 165772426 C T rs150528973 SLC38A11 Synonymous SNV G103G 0.006 0 0.003 0 7 0 0 1 0 0 0 0 15.65 71298 chr15 21938163 21938163 T G rs4247057 LOC646214 0 0 0.054 0 0 0 0 16 0 0 3 0 0.148 71299 chr15 22956213 22956213 G A rs371856670 CYFIP1 Nonsynonymous SNV V53I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.116 71300 chr15 23086364 23086364 - GCCGCC rs549007670 NIPA1 A16_G17insAA 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 71301 chr12 124810028 124810028 C T rs77107801 NCOR2 Nonsynonymous SNV A2433T 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 18.6 71302 chr12 124815439 124815439 T C rs2228587 NCOR2 Nonsynonymous SNV S2294G 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 6.663 71303 chr2 1668746 1668746 G A rs61749582 PXDN Synonymous SNV I464I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.9 71304 chr2 31606685 31606685 C T rs113345553 XDH Synonymous SNV L274L 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Likely benign 12.51 71305 chr12 124817789 124817789 A G rs61751353 NCOR2 Synonymous SNV G2204G 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 3.768 71306 chr15 25277316 25277316 G A rs2732044 PWAR6 0 0 0.071 0 0 0 0 21 0 0 9 0 4.775 71307 chr2 10729257 10729257 T C rs34359340 NOL10 Nonsynonymous SNV T560A 0.005 0.003 0.007 4 6 1 0.01 2 0 0 1 0 0.907 71308 chr2 167083160 167083160 C T rs149346064 SCN9A Nonsynonymous SNV V1439I 0.009 0 0.003 0 10 0 0 1 0 0 0 0 Benign/Likely benign 13.43 71309 chr15 25415693 25415693 T C rs2739837 SNHG14 0 0 0.282 0 0 0 0 83 0 0 39 0 6.991 71310 chr2 167141211 167141211 T C rs202090277 SCN9A Nonsynonymous SNV S576G 0.007 0 0.003 0 8 0 0 1 0 0 0 0 Uncertain significance 23.3 71311 chr2 167142979 167142979 C T rs58022607 SCN9A Nonsynonymous SNV S490N 0.021 0.016 0.031 5 25 6 0.013 9 0 0 0 0 Benign/Likely benign 16.89 71312 chr2 10797952 10797952 G A rs61737663 NOL10 Synonymous SNV P248P 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 12.87 71313 chr12 125398180 125398180 A G rs142233690 UBC Synonymous SNV A46A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.126 71314 chr2 167145106 167145106 C A rs58465962 SCN9A Synonymous SNV V385V 0.019 0.016 0.031 5 22 6 0.013 9 0 0 0 0 Benign 16.48 71315 chr12 125398234 125398234 T C rs780240165 UBC Synonymous SNV A28A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.038 71316 chr15 29967699 29967699 C T rs188217578 LOC100130111 0 0 0.007 0 0 0 0 2 0 0 0 0 5.851 71317 chr2 54150517 54150517 T C rs765183245 PSME4 Nonsynonymous SNV I617V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.92 71318 chr2 167301338 167301338 A G rs35213258 SCN7A Synonymous SNV C520C 0.023 0.026 0.024 1 27 10 0.003 7 0 0 0 0 0.014 71319 chr12 129028624 129028624 G A rs201621009 TMEM132C Nonsynonymous SNV R366H 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 27.1 71320 chr2 168106004 168106004 G C XIRP2 Nonsynonymous SNV S2479T 0.004 0 0 0 5 0 0 0 0 0 0 0 0.012 71321 chr2 10960951 10960951 G C rs61360105 PDIA6 Nonsynonymous SNV R14G 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 0.028 71322 chr2 190708712 190708712 G A rs2066459 PMS1 Nonsynonymous SNV R26K 0.013 0.029 0.024 12 15 11 0.031 7 1 0 0 0 Likely benign 19.22 71323 chr15 33260973 33260973 C T rs150962800 FMN1 Nonsynonymous SNV E754K 0.009 0.01 0.014 6 11 4 0.015 4 0 0 0 0 Benign 26.4 71324 chr2 180308042 180308042 - AGCTGGAGGAAT rs749031385 ZNF385B A318_L319insIPPA 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 71325 chr2 38177563 38177563 G C RMDN2-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.01 71326 chr2 170030497 170030497 G A rs751375925 LRP2 Nonsynonymous SNV P3649L 0.004 0 0 0 5 0 0 0 0 0 0 0 28.8 71327 chr2 159992767 159992767 C T rs199746583 TANC1 Nonsynonymous SNV P108S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.8 71328 chr15 33445809 33445809 C A rs537060596 FMN1 Nonsynonymous SNV G436V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 71329 chr2 196602786 196602786 A T rs80112322 DNAH7 Stop gain Y3978X 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 38 71330 chr2 39088786 39088786 T C rs35349461 DHX57 Nonsynonymous SNV K154E 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 0.723 71331 chr2 196825238 196825238 C A rs75001760 DNAH7 Nonsynonymous SNV M879I 0.041 0.044 0.024 16 48 17 0.041 7 1 0 0 0 8.92 71332 chr2 171240250 171240250 G A rs10168181 MYO3B Nonsynonymous SNV A406T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.11 71333 chr2 197002331 197002331 G A rs34740616 STK17B Nonsynonymous SNV S320F 0.005 0 0 0 6 0 0 0 0 0 0 0 23.7 71334 chr2 43776440 43776440 G C rs572416336 THADA Nonsynonymous SNV N1005K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.66 71335 chr2 63206431 63206431 G C rs754583745 EHBP1 Nonsynonymous SNV A857P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 71336 chr2 198272806 198272806 A C rs144644361 SF3B1 Synonymous SNV A385A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 4.947 71337 chr2 186653522 186653522 - GAT rs141318533 FSIP2 D554_S555insD 0.022 0.036 0.037 9 26 14 0.023 11 1 0 0 0 71338 chr2 65296693 65296693 G C rs138848385 CEP68 Nonsynonymous SNV G39R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 71339 chr15 40581099 40581099 T C PLCB2 Synonymous SNV A1110A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.538 71340 chr2 20173436 20173436 A G rs142955097 WDR35 Nonsynonymous SNV V257A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign/Likely benign 13.35 71341 chr2 234229295 234229295 C T rs72976383 SAG Synonymous SNV C67C 0.029 0.031 0.024 15 34 12 0.038 7 1 0 0 1 Likely benign 15.53 71342 chr2 120362309 120362309 G A rs777017525 CFAP221 Nonsynonymous SNV A285T 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 4.443 71343 chr2 234581299 234581299 C T rs561534651 UGT1A9 Nonsynonymous SNV T240M 0.003 0.008 0 0 3 3 0 0 0 0 0 0 24.4 71344 chr2 179193033 179193033 T C rs145674369 OSBPL6 Synonymous SNV N61N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 5.351 71345 chr2 179395874 179395874 C T rs55806007 TTN Synonymous SNV P26091P 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 Benign/Likely benign 21.2 71346 chr2 202900405 202900405 C T rs773740238 FZD7 Synonymous SNV F345F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.428 71347 chr2 179424558 179424558 C T rs56310931 TTN Synonymous SNV K19702K 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 Benign/Likely benign 13.89 71348 chr2 234602277 234602277 G T rs17863783 UGT1A6 Synonymous SNV V209V 0.017 0.023 0.027 11 20 9 0.028 8 0 2 0 1 Benign 6.729 71349 chr2 179453429 179453429 G A rs72646850 TTN Nonsynonymous SNV T11943I 0.016 0.018 0.01 6 19 7 0.015 3 0 0 0 0 Benign/Likely benign 0.424 71350 chr2 205830017 205830017 T C rs74648966 PARD3B Nonsynonymous SNV I122T 0.01 0.005 0.007 1 12 2 0.003 2 0 0 0 0 26.5 71351 chr2 96781257 96781257 C G rs9333568 ADRA2B Nonsynonymous SNV G211A 0.054 0.073 0.085 21 63 28 0.054 25 4 3 0 0 0.002 71352 chr2 234959642 234959642 C T rs34347825 SPP2 Nonsynonymous SNV S38F 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Likely benign 23.9 71353 chr2 73493651 73493651 G A rs372629043 FBXO41 Synonymous SNV S355S 0.015 0.01 0.017 5 18 4 0.013 5 0 0 0 0 8.979 71354 chr2 234967569 234967569 C T rs76941072 SPP2 Synonymous SNV P100P 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 9.024 71355 chr2 191524315 191524315 G C rs374270789 NAB1 Nonsynonymous SNV S138T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.33 71356 chr2 61014132 61014132 G A PAPOLG Nonsynonymous SNV R406Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 71357 chr2 20818816 20818816 G A rs111886213 HS1BP3 Synonymous SNV D370D 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 12.61 71358 chr2 61576404 61576404 T G rs62623573 USP34 Nonsynonymous SNV R508S 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign 15.59 71359 chr15 42284974 42284974 G A rs77783613 PLA2G4E Synonymous SNV D477D 0.041 0.042 0.071 18 48 16 0.046 21 1 1 2 0 9.745 71360 chr2 20870820 20870820 G T rs78872016 GDF7 Nonsynonymous SNV A330S 0.038 0.042 0.024 13 45 16 0.033 7 0 1 0 0 11.15 71361 chr2 238258829 238258829 T C rs149069735 COL6A3 Synonymous SNV P1673P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.701 71362 chr2 238303515 238303515 C A rs756602944 COL6A3 Nonsynonymous SNV V142F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 71363 chr2 198318349 198318349 C A COQ10B Nonsynonymous SNV A22E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.65 71364 chr15 42676690 42676690 G A rs1801505 CAPN3 Nonsynonymous SNV E107K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 21.4 71365 chr2 209108301 209108301 T C rs34599179 IDH1 Nonsynonymous SNV Y183C 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 not provided 27.2 71366 chr2 183594637 183594637 T C rs757794320 DNAJC10 Synonymous SNV H232H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.941 71367 chr2 138378229 138378229 C T rs200261966 THSD7B Synonymous SNV C1244C 0.006 0 0 1 7 0 0.003 0 0 0 0 0 15.53 71368 chr2 178936475 178936475 G A rs78496158 PDE11A Synonymous SNV C230C 0.014 0.008 0.003 2 17 3 0.005 1 0 0 0 0 7.327 71369 chr15 45387228 45387228 T C DUOX2 Nonsynonymous SNV Q1434R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 71370 chr2 141115595 141115595 C T rs148734150 LRP1B Nonsynonymous SNV R3783Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.81 71371 chr2 179400097 179400097 C T rs201554140 TTN Nonsynonymous SNV V24684M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 71372 chr2 179403946 179403946 C T rs182683829 TTN Nonsynonymous SNV V23841I 0.008 0.003 0.02 0 9 1 0 6 0 0 0 0 Conflicting interpretations of pathogenicity 16.09 71373 chr2 21361837 21361837 C T rs756026218 TDRD15 Nonsynonymous SNV R500C 0.004 0 0 0 5 0 0 0 0 0 0 0 29.2 71374 chr13 33638292 33638292 A G rs35328951 KL Nonsynonymous SNV Y1003C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.5 71375 chr2 179423237 179423237 T C rs375565646 TTN Synonymous SNV E19918E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.843 71376 chr2 186667943 186667943 G A FSIP2 Nonsynonymous SNV R4637K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 71377 chr2 179438093 179438093 T C rs187868672 TTN Nonsynonymous SNV N15191D 0.004 0 0.017 0 5 0 0 5 0 0 0 0 Conflicting interpretations of pathogenicity 12.93 71378 chr13 38211313 38211313 T C rs75661457 TRPC4 Synonymous SNV E714E 0.014 0.018 0.027 5 17 7 0.013 8 0 0 1 0 1.104 71379 chr2 216190832 216190832 T C rs143708155 ATIC Synonymous SNV L168L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 7.731 71380 chr2 203421095 203421095 A G BMPR2 Nonsynonymous SNV N903D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 71381 chr2 152381033 152381033 C G rs142454476 NEB Nonsynonymous SNV S5756T 0.009 0.003 0 6 10 1 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 71382 chr2 73613031 73613031 - GGAGGA rs193922695 ALMS1 E28_A29insEE 0.03 0.031 0 27 35 12 0.069 0 5 1 0 1 71383 chr2 179549474 179549474 G A rs201738153 TTN Nonsynonymous SNV P9609S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.8 71384 chr15 51675988 51675988 C T rs140063339 GLDN Nonsynonymous SNV P23L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 71385 chr2 241905306 241905306 C T rs578065848 CROCC2 Nonsynonymous SNV A1286V 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 7.341 71386 chr2 206921206 206921206 C A rs769641630 INO80D Nonsynonymous SNV G227V 0.003 0 0 0 4 0 0 0 0 0 0 0 28.7 71387 chr2 9528628 9528628 C T rs577577298 ASAP2 Nonsynonymous SNV P779L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 71388 chr15 52901658 52901658 C T rs202204044 FAM214A Nonsynonymous SNV V492I 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 18.43 71389 chr2 207176050 207176050 T A rs773378111 ZDBF2 Synonymous SNV A2266A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.537 71390 chr2 9630541 9630541 G A rs55796712 ADAM17 Nonsynonymous SNV S747L 0.016 0.026 0.027 15 19 10 0.038 8 0 0 0 0 13.62 71391 chr2 242122130 242122130 A G rs113069444 PPP1R7 Synonymous SNV T282T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 0.028 71392 chr15 54919253 54919253 T C rs146433220 UNC13C Nonsynonymous SNV V2196A 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 25.9 71393 chr2 159672323 159672323 G A rs745794395 DAPL1 Nonsynonymous SNV R105Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 71394 chr15 56208463 56208463 A C rs113176671 NEDD4 Nonsynonymous SNV S189R 0.041 0.029 0.02 23 48 11 0.059 6 0 0 0 1 22.8 71395 chr2 86317012 86317012 C G rs146078741 POLR1A Nonsynonymous SNV R158P 0.006 0.01 0.003 5 7 4 0.013 1 0 1 0 0 Benign/Likely benign 16.61 71396 chr15 56387421 56387421 T C rs34255389 RFX7 Synonymous SNV L738L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.42 71397 chr2 220107997 220107997 G A rs147143842 GLB1L Nonsynonymous SNV R38W 0.013 0.021 0.014 2 15 8 0.005 4 0 0 0 0 26.3 71398 chr2 24398376 24398376 T C rs756074297 FAM228A Synonymous SNV Y9Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 71399 chr2 209200102 209200102 A G rs35944808 PIKFYVE Synonymous SNV L1405L 0.009 0.01 0.007 5 10 4 0.013 2 0 0 0 0 Benign 8.495 71400 chr15 58253490 58253490 G T rs35251510 ALDH1A2 Synonymous SNV I322I 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 Benign 15 71401 chr2 163005674 163005674 G A rs5645 GCG Synonymous SNV Y5Y 0.014 0.008 0.014 9 16 3 0.023 4 1 0 0 0 7.976 71402 chr2 211476897 211476897 C T rs75395645 CPS1 Synonymous SNV C816C 0.032 0.039 0.024 11 38 15 0.028 7 0 1 0 0 Benign 14.91 71403 chr2 26483930 26483930 T C HADHB Synonymous SNV I14I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 2.394 71404 chr2 165551085 165551085 G A rs773804574 COBLL1 Synonymous SNV I939I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.228 71405 chr2 9517066 9517066 A G rs34464740 ASAP2 Synonymous SNV A592A 0.015 0.005 0.003 3 18 2 0.008 1 0 0 0 0 Benign 11.45 71406 chr3 10331519 10331519 C T rs34911341 GHRL Nonsynonymous SNV R39Q 0.005 0 0 0 6 0 0 0 0 0 0 0 risk factor 34 71407 chr15 59189414 59189414 C A rs139852972 SLTM Nonsynonymous SNV S358I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 71408 chr2 185803605 185803605 C A rs762689676 ZNF804A Nonsynonymous SNV P1161Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 71409 chr13 50123688 50123688 G A rs3751382 RCBTB1 Synonymous SNV S317S 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 10.69 71410 chr2 212587119 212587119 T C rs77309171 ERBB4 Synonymous SNV P294P 0.014 0.018 0.01 3 16 7 0.008 3 0 0 0 0 Likely benign 12.23 71411 chr2 96689068 96689068 G A rs778877429 GPAT2 Nonsynonymous SNV R608W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 71412 chr15 59487752 59487752 G C rs143249432 MYO1E Nonsynonymous SNV D571E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.9 71413 chr2 26702223 26702223 C T rs145019640 OTOF Nonsynonymous SNV R708Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 71414 chr13 51918558 51918558 G A rs17790811 SERPINE3 Nonsynonymous SNV D143N 0.018 0.016 0.014 7 21 6 0.018 4 0 0 0 0 0.127 71415 chr2 215797431 215797431 T C rs199846944 ABCA12 Nonsynonymous SNV Y2254C 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 Uncertain significance 23.7 71416 chr13 52508995 52508995 G A rs375692175 ATP7B Nonsynonymous SNV S1225F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 71417 chr2 97034719 97034719 A G NCAPH Nonsynonymous SNV R534G 0 0.005 0 0 0 2 0 0 0 0 0 0 14.1 71418 chr2 27303090 27303098 AGTACCAGC - EMILIN1 K81_P84delinsT 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 71419 chr13 53039547 53039547 C T rs143514154 CKAP2 Nonsynonymous SNV P476S 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 20.4 71420 chr3 121155122 121155122 C T rs41540016 POLQ Nonsynonymous SNV A2464T 0.024 0.026 0.02 8 28 10 0.021 6 0 0 0 0 33 71421 chr15 63340227 63340227 G A rs4075583 TPM1-AS 0 0 0.068 0 0 0 0 20 0 0 10 0 8.5 71422 chr13 58299115 58299115 G A rs201289518 PCDH17 Nonsynonymous SNV G1056D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.5 71423 chr3 121260325 121260325 A G rs141638362 POLQ Synonymous SNV A115A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.27 71424 chr13 66878874 66878874 G T rs149158184 PCDH9 Nonsynonymous SNV S1133R 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 17.68 71425 chr13 72440467 72440467 A G rs573532758 DACH1 Synonymous SNV S145S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.028 71426 chr2 220503517 220503517 G A rs201977598 SLC4A3 Synonymous SNV P1010P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.19 71427 chr2 27428936 27428936 G A rs368924669 SLC5A6 Synonymous SNV S179S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.21 71428 chr2 27485720 27485720 G A rs149400133 SLC30A3 Nonsynonymous SNV R19W 0 0.005 0 0 0 2 0 0 0 0 0 0 24.4 71429 chr2 207041952 207041952 G A rs149464246 GPR1 Nonsynonymous SNV T7I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 6.207 71430 chr2 27682262 27682262 A C rs142409945 IFT172 Nonsynonymous SNV S924A 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 16.86 71431 chr2 219028997 219028997 C T rs61752206 CXCR1 Nonsynonymous SNV R313H 0.003 0.013 0.007 1 3 5 0.003 2 0 0 0 0 32 71432 chr2 219134116 219134116 G A rs141898578 AAMP Nonsynonymous SNV A88V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.1 71433 chr2 207170334 207170334 G C rs202036087 ZDBF2 Nonsynonymous SNV S361T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.014 71434 chr2 170591745 170591745 T G KLHL23, PHOSPHO2-KLHL23 Nonsynonymous SNV F74C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 71435 chr2 99448877 99448877 G A rs34718472 KIAA1211L Synonymous SNV D158D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.213 71436 chr3 111940064 111940064 G A rs766574100 SLC9C1 Synonymous SNV Y479Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.857 71437 chr2 226273749 226273749 T G rs61747063 NYAP2 Nonsynonymous SNV N51K 0.013 0.013 0.003 7 15 5 0.018 1 0 0 0 0 19.82 71438 chr2 28854972 28854972 C A rs74701215 PLB1 Nonsynonymous SNV P1312T 0.012 0.013 0.014 3 14 5 0.008 4 0 0 0 0 28.1 71439 chr2 219509078 219509078 T C rs201354528 ZNF142 Nonsynonymous SNV M721V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.001 71440 chr2 219529032 219529032 C G rs115868270 RNF25 Nonsynonymous SNV S343T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.721 71441 chr15 65680826 65680826 G A rs140602610 IGDCC4 Nonsynonymous SNV R936C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 71442 chr13 96511868 96511868 T A rs45473699 UGGT2 Nonsynonymous SNV N1268Y 0.007 0.003 0.02 1 8 1 0.003 6 0 0 0 0 32 71443 chr2 1748117 1748117 C G rs140134102 PXDN Synonymous SNV P37P 0.009 0.005 0.017 5 11 2 0.013 5 0 0 0 0 13.02 71444 chr2 175213513 175213513 A G CIR1 Synonymous SNV S355S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.063 71445 chr2 219677760 219677760 C T rs367855115 CYP27A1 Nonsynonymous SNV L320F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 25 71446 chr2 219688510 219688510 G A rs34720726 PRKAG3 Nonsynonymous SNV A482V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 32 71447 chr2 20974689 20974689 C T rs145002349 LDAH Nonsynonymous SNV E75K 0.006 0.01 0.003 4 7 4 0.01 1 0 0 0 0 27.2 71448 chr13 100622668 100622682 GGCGGCGGCGGCGGC - rs778996938 ZIC5 P420_P424del 0.008 0.003 0.007 5 9 1 0.013 2 1 0 0 0 71449 chr2 30959427 30959427 T C rs758392112 CAPN13 Nonsynonymous SNV N555S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.31 71450 chr15 69696370 69696370 T C rs3743097 LOC145694 0 0 0.177 0 0 0 0 52 0 0 26 0 5.323 71451 chr15 69728530 69728530 A C rs11852675 KIF23 Synonymous SNV V332V 0.025 0.023 0.034 11 29 9 0.028 10 1 0 0 0 0.015 71452 chr2 179360286 179360286 G C rs988971942 PLEKHA3 Nonsynonymous SNV E172Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 71453 chr15 70371724 70371724 G A rs369490351 MIR629 0 0 0.003 0 0 0 0 1 0 0 0 0 6.087 71454 chr15 70371777 70371777 C G rs78212770 MIR629 0 0 0.01 0 0 0 0 3 0 0 0 0 5.241 71455 chr2 200320598 200320598 C G rs748892556 SATB2 Nonsynonymous SNV V55L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 19.75 71456 chr15 71535230 71535230 A G rs1034063554 THSD4 Nonsynonymous SNV Q236R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.263 71457 chr3 108773721 108773721 G A MORC1 Nonsynonymous SNV A395V 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24.1 71458 chr3 110791272 110791272 C T rs972604261 NECTIN3 Synonymous SNV A2A 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 11.64 71459 chr13 103400532 103400532 C G rs201385481 CCDC168 Nonsynonymous SNV D839H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.73 71460 chr3 119528956 119528956 C T rs140423753 NR1I2 Synonymous SNV G82G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.91 71461 chr2 233709178 233709178 A T GIGYF2 Nonsynonymous SNV S1061C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 71462 chr15 74032631 74032631 G A rs79475978 INSYN1 Nonsynonymous SNV T170M 0.006 0.013 0.024 4 7 5 0.01 7 0 0 0 0 7.424 71463 chr15 74467329 74467329 G A rs148769100 ISLR Nonsynonymous SNV V44M 0 0 0.007 0 0 0 0 2 0 0 0 0 13.75 71464 chr3 127399141 127399141 G A rs780489088 ABTB1 Synonymous SNV A278A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 7.003 71465 chr2 179699124 179699124 C T rs145610810 CCDC141 Nonsynonymous SNV V1457I 0.014 0.01 0.003 6 16 4 0.015 1 0 0 0 0 Likely benign 23.7 71466 chr3 112732195 112732195 C T rs147762157 NEPRO Nonsynonymous SNV G10E 0.013 0.013 0.01 7 15 5 0.018 3 0 0 0 0 Benign 34 71467 chr3 12858966 12858966 G T rs17037287 CAND2 Nonsynonymous SNV L752F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 71468 chr2 43571277 43571277 G A rs61754254 THADA Nonsynonymous SNV L1443F 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 25.4 71469 chr2 219000235 219000235 G A rs201499279 CXCR2 Synonymous SNV T237T 0.003 0 0 0 4 0 0 0 0 0 0 0 1.671 71470 chr15 76551842 76551842 T C rs113574660 TYRO3P 0 0 0.224 0 0 0 0 66 0 0 0 0 0.385 71471 chr15 76551858 76551858 G A rs76419238 TYRO3P 0 0 0.224 0 0 0 0 66 0 0 0 0 1.428 71472 chr15 76551864 76551864 T C rs79707972 TYRO3P 0 0 0.224 0 0 0 0 66 0 0 0 0 0.185 71473 chr2 225672737 225672737 C T rs200998922 DOCK10 Nonsynonymous SNV R1153Q 0.01 0.005 0.003 5 12 2 0.013 1 0 0 0 0 26.8 71474 chr15 76551906 76551906 G C rs78789729 TYRO3P 0 0 0.224 0 0 0 0 66 0 0 0 0 1.951 71475 chr15 76551915 76551915 A G rs80224478 TYRO3P 0 0 0.224 0 0 0 0 66 0 0 0 0 0.886 71476 chr15 76551921 76551921 G C rs74777457 TYRO3P 0 0 0.224 0 0 0 0 66 0 0 0 0 4.459 71477 chr15 76551942 76551942 A G rs76235431 TYRO3P 0 0 0.221 0 0 0 0 65 0 0 0 0 4.755 71478 chr15 76551972 76551972 G A rs76319667 TYRO3P 0 0 0.218 0 0 0 0 64 0 0 0 0 1.161 71479 chr15 76551977 76551977 A G rs80093775 TYRO3P 0 0 0.218 0 0 0 0 64 0 0 0 0 3.349 71480 chr15 76552132 76552132 T C rs372642361 TYRO3P 0 0 0.19 0 0 0 0 56 0 0 0 0 4.489 71481 chr15 76552205 76552205 G A rs539337758 TYRO3P 0 0 0.126 0 0 0 0 37 0 0 0 0 1.205 71482 chr13 113516761 113516761 G A rs145335126 ATP11A Nonsynonymous SNV A955T 0.003 0 0 0 3 0 0 0 0 0 0 0 23 71483 chr15 76552243 76552243 C T TYRO3P 0 0 0.201 0 0 0 0 59 0 0 0 0 10.45 71484 chr15 76552254 76552254 T A TYRO3P 0 0 0.201 0 0 0 0 59 0 0 0 0 11.68 71485 chr15 76552258 76552258 A G TYRO3P 0 0 0.201 0 0 0 0 59 0 0 0 0 9.893 71486 chr15 76552276 76552276 A - TYRO3P 0 0 0.214 0 0 0 0 63 0 0 0 0 71487 chr15 76552278 76552284 AGGCTCA - TYRO3P 0 0 0.214 0 0 0 0 63 0 0 0 0 71488 chr15 76552312 76552312 A G rs111250515 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 0.402 71489 chr15 76552347 76552347 T C rs113014250 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 0.388 71490 chr15 76552369 76552369 A G rs112729239 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 0.309 71491 chr13 113965127 113965127 G A rs369180138 LAMP1 Synonymous SNV T169T 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 9.996 71492 chr15 76552449 76552449 A C rs796689033 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 10.27 71493 chr15 76552478 76552478 T A rs756816478 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 5.609 71494 chr15 76552480 76552480 T C rs372254278 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 0.25 71495 chr15 76552485 76552485 A G rs796735372 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 2.951 71496 chr15 76552486 76552486 - C rs199562413 TYRO3P 0 0 0.228 0 0 0 0 67 0 0 0 0 71497 chr15 77940335 77940335 C T rs72546309 LINGO1-AS1 0 0 0.129 0 0 0 0 38 0 0 3 0 6.328 71498 chr2 228197303 228197303 - AATCCGAGC MFF A120_V121insIRA 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 71499 chr15 78633419 78633419 G C rs151297065 CRABP1 Synonymous SNV A35A 0.035 0.039 0.024 15 41 15 0.038 7 0 0 0 0 15.78 71500 chr15 78909414 78909414 C T rs77574318 CHRNA3 Nonsynonymous SNV R110H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 71501 chr3 119101191 119101191 A G ARHGAP31 Nonsynonymous SNV K162E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 71502 chr2 229986 229986 T C rs199653837 SH3YL1 Nonsynonymous SNV Q254R 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 3.02 71503 chr3 119347674 119347674 T C PLA1A Synonymous SNV I243I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.09 71504 chr2 230914476 230914476 C A SLC16A14 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 71505 chr15 79755583 79755583 C T rs61746211 MINAR1 Nonsynonymous SNV R825W 0.006 0 0.017 2 7 0 0.005 5 0 0 0 0 27.8 71506 chr15 80215187 80215187 C T rs189595266 ST20-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 7.742 71507 chr14 20784431 20784431 G A rs17242578 CCNB1IP1 Synonymous SNV I84I 0.037 0.036 0.058 6 43 14 0.015 17 1 0 1 0 13.95 71508 chr15 80215495 80215495 C A rs183370362 ST20-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 21.8 71509 chr15 80216176 80216176 G T rs34149442 ST20-AS1 0 0 0.054 0 0 0 0 16 0 0 0 0 6.358 71510 chr15 80216243 80216243 A C rs36070199 ST20-AS1 0 0 0.051 0 0 0 0 15 0 0 0 0 5.098 71511 chr15 81188377 81188377 G A rs368277774 CEMIP Nonsynonymous SNV A463T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.115 71512 chr2 21364968 21364968 T C rs147353491 TDRD15 Synonymous SNV Y1543Y 0.022 0.018 0 2 26 7 0.005 0 1 0 0 0 0.008 71513 chr15 81648870 81648870 C T rs146506274 TMC3 Nonsynonymous SNV R270Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 34 71514 chr15 82387969 82387969 A G rs77062462 LINC01583 0 0 0.058 0 0 0 0 17 0 0 0 0 0.212 71515 chr14 20925431 20925431 G A rs33956927 APEX1 Nonsynonymous SNV G241R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 28.2 71516 chr3 128663914 128663914 C T rs541411949 KIAA1257 Stop gain W462X 0.004 0.008 0 0 5 3 0 0 0 0 0 0 35 71517 chr2 190554462 190554462 A G rs17271239 ANKAR Nonsynonymous SNV N271D 0.01 0.005 0.003 8 12 2 0.021 1 0 0 0 0 23.4 71518 chr15 83951957 83951957 C A rs979144764 BNC1 Nonsynonymous SNV C3F 0 0 0.003 0 0 0 0 1 0 0 0 0 11 71519 chr15 85159553 85159553 C T rs118149048 ZSCAN2 Synonymous SNV C140C 0.008 0.01 0.014 5 9 4 0.013 4 0 0 0 0 3.614 71520 chr2 63175852 63175852 G A rs140493234 EHBP1 Nonsynonymous SNV S624N 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 11.48 71521 chr15 85188775 85188775 G A rs4842982 WDR73 Synonymous SNV S270S 0.008 0.01 0.014 5 9 4 0.013 4 0 0 0 0 13.65 71522 chr2 241679524 241679524 A G rs184931664 KIF1A Synonymous SNV H1183H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.031 71523 chr3 122103120 122103120 G A rs115407410 FAM162A Nonsynonymous SNV S3N 0.01 0.013 0.01 1 12 5 0.003 3 0 0 0 0 5.616 71524 chr15 85326955 85326955 G A rs61737677 ZNF592 Nonsynonymous SNV R350H 0.007 0.01 0.017 6 8 4 0.015 5 0 0 0 0 Benign 25.3 71525 chr15 85360271 85360271 A G rs28431354 ALPK3 Nonsynonymous SNV H65R 0 0 0.017 0 0 0 0 5 0 0 0 0 Benign 0.874 71526 chr3 122247580 122247580 G A rs372506487 PARP9 Synonymous SNV Y732Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.205 71527 chr15 85401597 85401597 C T rs55752937 ALPK3 Nonsynonymous SNV R1412W 0.005 0.01 0.017 6 6 4 0.015 5 0 0 0 0 Benign 23.7 71528 chr15 85432030 85432030 T C rs17222302 SLC28A1 Synonymous SNV L42L 0.009 0.013 0.014 6 10 5 0.015 4 1 0 0 0 0.037 71529 chr14 21498884 21498884 G A rs549030605 TPPP2 Synonymous SNV T48T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.336 71530 chr2 219103525 219103525 A G rs147649871 ARPC2 Nonsynonymous SNV K136R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 71531 chr2 66666743 66666743 A C rs143267215 MEIS1-AS2 0.014 0.01 0.003 0 16 4 0 1 0 0 0 0 12.86 71532 chr2 197674093 197674093 G A rs781074078 C2orf66 Nonsynonymous SNV R7C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.59 71533 chr3 123348523 123348523 G A rs56068068 MYLK-AS1 0.016 0.016 0.01 3 19 6 0.008 3 0 0 0 0 0.196 71534 chr2 219611878 219611878 G T rs200655552 TTLL4 Synonymous SNV A709A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.3 71535 chr3 133191347 133191347 C G rs9823754 BFSP2 Synonymous SNV R394R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.29 71536 chr2 242157122 242157122 C A ANO7 Nonsynonymous SNV T665N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 71537 chr2 7036004 7036004 T C rs767429058 RSAD2 Synonymous SNV D339D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.24 71538 chr2 201534389 201534389 A G rs3731722 AOX1 Nonsynonymous SNV H1297R 0.031 0.023 0.027 7 36 9 0.018 8 0 1 0 0 0.001 71539 chr3 13377048 13377048 C T rs745830811 NUP210 Nonsynonymous SNV R1250Q 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 23.6 71540 chr3 14105871 14105885 CAGCAGCAGCCCCAG - rs755801384 TPRXL 0.014 0.01 0 8 17 4 0.021 0 0 0 0 0 71541 chr2 71209713 71209713 G A rs74696086 ANKRD53 Synonymous SNV L263L 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 12.27 71542 chr2 232320168 232320168 C A rs773857758 NCL Nonsynonymous SNV G667V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 71543 chr2 232320169 232320169 C T rs747337310 NCL Nonsynonymous SNV G667S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 71544 chr2 71302759 71302759 G A rs141425614 NAGK Synonymous SNV R167R 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 11.03 71545 chr2 220309688 220309688 G A rs202020343 SPEG Nonsynonymous SNV R207H 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 Benign 15.84 71546 chr3 126452040 126452040 A T rs751006103 CHCHD6 Nonsynonymous SNV H129L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.03 71547 chr2 71654356 71654356 G A rs770325240 ZNF638 Nonsynonymous SNV G1786E 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 23.6 71548 chr2 202899951 202899951 C A FZD7 Nonsynonymous SNV P194H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.23 71549 chr3 148562272 148562272 G A rs145346983 CPB1 Nonsynonymous SNV R195H 0.011 0.016 0.014 6 13 6 0.015 4 0 0 0 1 23.5 71550 chr2 71740897 71740897 C A rs34999029 DYSF Nonsynonymous SNV A171E 0.02 0.021 0.014 8 24 8 0.021 4 1 0 0 0 Benign 14.91 71551 chr2 203686202 203686202 T C rs144482724 ICA1L Nonsynonymous SNV I80V 0.007 0.008 0.01 6 8 3 0.015 3 0 0 0 1 13.43 71552 chr3 140122648 140122648 C A rs377236270 CLSTN2 Nonsynonymous SNV A137D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.1 71553 chr2 220504318 220504318 C G rs145344574 SLC4A3 Synonymous SNV L1073L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 10.24 71554 chr2 27423972 27423972 C T rs141244089 SLC5A6 Nonsynonymous SNV R553Q 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Likely benign 23.6 71555 chr2 27481661 27481661 G A rs41288821 SLC30A3 Synonymous SNV A66A 0.012 0.018 0.014 5 14 7 0.013 4 0 0 0 0 Benign 9.111 71556 chr2 240024554 240024554 C T rs138137158 HDAC4 Synonymous SNV Q712Q 0.011 0.023 0.003 2 13 9 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.56 71557 chr2 238290066 238290066 G A rs112896869 COL6A3 Synonymous SNV A56A 0.017 0.021 0.007 6 20 8 0.015 2 1 0 0 0 Benign 11.2 71558 chr2 207834092 207834092 A T rs776371668 CPO Nonsynonymous SNV S353C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.016 71559 chr3 154861234 154861234 C T rs35227300 MME Synonymous SNV A397A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.77 71560 chr15 91428446 91428446 G A rs151068669 FES Synonymous SNV G57G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.689 71561 chr2 84668538 84668538 G A SUCLG1 Nonsynonymous SNV P122S 0.003 0.01 0 0 3 4 0 0 0 0 0 0 28.8 71562 chr3 155838637 155838637 C T rs9812862 KCNAB1 Synonymous SNV S79S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 18.97 71563 chr3 15046088 15046088 T C rs77813966 NR2C2 Synonymous SNV L33L 0.037 0.063 0.034 13 44 24 0.033 10 1 2 0 0 0.067 71564 chr14 24681025 24681025 C T rs147406718 CHMP4A Synonymous SNV E14E 0.011 0.003 0.003 0 13 1 0 1 0 0 0 0 16.4 71565 chr3 130311398 130311398 C T rs73868925 COL6A6 Nonsynonymous SNV A1429V 0.07 0.057 0.034 26 82 22 0.067 10 1 2 1 0 11.33 71566 chr15 93339219 93339219 T C rs7164758 ASB9P1 0 0 0.15 0 0 0 0 44 0 0 3 0 0.022 71567 chr15 93339701 93339701 A T rs28575385 ASB9P1 0 0 0.146 0 0 0 0 43 0 0 3 0 1.482 71568 chr2 85554286 85554286 T A TGOLN2 Nonsynonymous SNV K190I 0.003 0.01 0 0 3 4 0 0 0 0 0 0 15.4 71569 chr15 93486246 93486246 G A CHD2 Nonsynonymous SNV G334S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 71570 chr2 85554287 85554287 T G TGOLN2 Nonsynonymous SNV K190Q 0.003 0.01 0 0 3 4 0 0 0 0 0 0 12.19 71571 chr14 24798433 24798433 T A rs61745073 ADCY4 Nonsynonymous SNV E453V 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 22.7 71572 chr2 230923892 230923892 C T SLC16A14 Synonymous SNV V59V 0.003 0 0 0 4 0 0 0 0 0 0 0 13.47 71573 chr3 132071640 132071640 A G rs745583242 ACP3 Nonsynonymous SNV H281R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 71574 chr3 151475376 151475376 T - AADACL2 L401Yfs*18 0.003 0.003 0 0 4 1 0 0 0 0 0 0 71575 chr3 132403416 132403416 G A rs760321108 NPHP3 Synonymous SNV A1184A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.006 71576 chr15 97326748 97326748 G T rs12911590 SPATA8 0 0 0.361 0 0 0 0 106 0 0 39 0 4.265 71577 chr3 151598469 151598469 C T rs16863710 SUCNR1 Synonymous SNV Y46Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.185 71578 chr15 97328518 97328518 G C rs28479969 SPATA8 0 0 0.187 0 0 0 0 55 0 0 14 0 1.203 71579 chr2 210968927 210968927 A G rs201948858 KANSL1L Synonymous SNV N443N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.479 71580 chr2 211179735 211179735 A G rs62001905 MYL1 Nonsynonymous SNV V11A 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.003 71581 chr2 241500275 241500298 GCGCGCGCCCGGCGTGGCAGAGCT - rs532600172 ANKMY1, DUSP28 A60_R67del 0.024 0.013 0 7 28 5 0.018 0 0 0 0 0 71582 chr3 155520356 155520356 C T rs9853408 C3orf33 Nonsynonymous SNV A47T 0.005 0.005 0.02 1 6 2 0.003 6 0 0 0 0 22.2 71583 chr16 10775949 10775949 T C rs141275094 TEKT5 Nonsynonymous SNV D255G 0.001 0 0.02 0 1 0 0 6 0 0 0 0 24.5 71584 chr3 155524015 155524015 G A rs114877878 C3orf33 Synonymous SNV G9G 0.005 0.005 0.024 1 6 2 0.003 7 0 0 0 0 7.254 71585 chr2 232325397 232325399 TCC - rs199829854 NCL E271del 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 71586 chr3 156763279 156763279 C T rs73873779 LEKR1 Synonymous SNV L607L 0.026 0.026 0.024 10 30 10 0.026 7 0 0 1 0 14.71 71587 chr2 212576777 212576777 A C rs76603692 ERBB4 Nonsynonymous SNV H374Q 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 Likely benign 3.788 71588 chr2 233323000 233323000 C T rs10195208 ALPI Synonymous SNV D355D 0.007 0 0 0 8 0 0 0 0 0 0 0 9.142 71589 chr2 96943433 96943433 G C rs72825880 SNRNP200 Synonymous SNV A1925A 0.02 0.018 0.034 5 24 7 0.013 10 0 0 0 0 Likely benign 7.405 71590 chr16 1116243 1116243 C T rs35432067 SSTR5-AS1 0 0 0.095 0 0 0 0 28 0 0 2 0 6.506 71591 chr2 25965162 25965162 G C ASXL2 Nonsynonymous SNV S1088R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 71592 chr2 25965488 25965488 G C ASXL2 Nonsynonymous SNV Q980E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.533 71593 chr2 216245694 216245694 C A rs34923683 FN1 Synonymous SNV S1667S 0.016 0.003 0.014 3 19 1 0.008 4 1 0 0 0 14.64 71594 chr2 3800467 3800467 A G rs201004026 DCDC2C Synonymous SNV P86P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.008 71595 chr3 164739053 164739053 C T rs121912616 SI Nonsynonymous SNV G1073D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 71596 chr14 36789724 36789724 T C rs554965456 MBIP Nonsynonymous SNV N24S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 71597 chr2 98262570 98262570 C T rs114574573 COX5B Synonymous SNV R7R 0.012 0.013 0.003 3 14 5 0.008 1 0 0 0 0 22 71598 chr2 26676248 26676248 T A rs147712523 DRC1 Nonsynonymous SNV S584T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Uncertain significance 0.008 71599 chr2 98844788 98844788 G T VWA3B Nonsynonymous SNV D372Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.67 71600 chr2 26689619 26689619 T A rs142284613 OTOF Nonsynonymous SNV D798V 0.008 0.005 0 0 9 2 0 0 0 0 0 0 Uncertain significance 29.6 71601 chr14 38061572 38061572 G A rs33941285 FOXA1 Synonymous SNV S139S 0.023 0.023 0.007 7 27 9 0.018 2 0 0 0 0 10.08 71602 chr16 12009530 12009530 - CCG rs71408216 GSPT1 G16_S17insG 0.019 0.018 0.126 6 22 7 0.015 37 7 3 5 1 71603 chr3 100536284 100536284 C T rs12632235 ABI3BP Synonymous SNV T914T 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 13.45 71604 chr2 27804024 27804024 C T rs199772330 C2orf16 Nonsynonymous SNV H1529Y 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 18.97 71605 chr2 43926839 43926839 G C rs759005647 PLEKHH2 Nonsynonymous SNV G248R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 71606 chr2 44036892 44036892 G C rs41281457 DYNC2LI1 Nonsynonymous SNV E349Q 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 21.5 71607 chr2 28841215 28841215 G A PLB1 Synonymous SNV Q1077Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.279 71608 chr2 26781407 26781407 C T rs767580121 OTOF Synonymous SNV S11S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 71609 chr2 48132760 48132760 G C FBXO11 Nonsynonymous SNV Q34E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 71610 chr3 148559651 148559651 C A rs138120056 CPB1 Nonsynonymous SNV D172E 0.032 0.039 0.027 10 38 15 0.026 8 2 0 0 1 23.8 71611 chr2 220046957 220046957 A G rs142234261 RETREG2 Nonsynonymous SNV N206S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 10.67 71612 chr2 220072431 220072431 C A rs61750009 ZFAND2B Nonsynonymous SNV P71H 0.03 0.023 0.034 12 35 9 0.031 10 3 0 0 1 24.1 71613 chr3 184542480 184542480 A T rs192763506 VPS8 Nonsynonymous SNV E20D 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 0.168 71614 chr2 220090147 220090147 T C rs55842930 ATG9A Synonymous SNV Q120Q 0.019 0.036 0.027 7 22 14 0.018 8 1 0 0 0 0.002 71615 chr2 220107921 220107921 C T rs773799647 GLB1L Stop gain W63X 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 37 71616 chr16 1550113 1550113 G A rs118041797 TELO2 Nonsynonymous SNV S317N 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 Benign 14.2 71617 chr2 220197437 220197437 T G RESP18 Nonsynonymous SNV E14A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 9.869 71618 chr3 186360305 186360305 A G rs77346508 FETUB Nonsynonymous SNV R91G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 71619 chr2 31420143 31420143 C T rs72797147 CAPN14 Nonsynonymous SNV V283M 0.026 0.026 0.024 17 31 10 0.044 7 0 0 0 1 23.8 71620 chr14 52906081 52906081 T A rs2249922 TXNDC16 Nonsynonymous SNV R674W 0.003 0 0 0 4 0 0 0 0 0 0 0 23.8 71621 chr3 151093912 151093912 A C MED12L Nonsynonymous SNV K1286N 0 0.005 0 0 0 2 0 0 0 0 0 0 22.9 71622 chr3 183957291 183957291 G A rs199885492 VWA5B2 Nonsynonymous SNV R553Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.92 71623 chr2 30682565 30682565 A C rs72853177 LCLAT1 Synonymous SNV I29I 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.003 71624 chr2 36583461 36583461 G T rs3821169 CRIM1 Nonsynonymous SNV G9V 0.011 0.008 0.003 8 13 3 0.021 1 0 0 0 0 25.3 71625 chr2 61412803 61412807 TACAT - rs747489874 AHSA2P 0.008 0 0 0 9 0 0 0 0 0 0 0 71626 chr3 154146654 154146654 G A rs61745910 GPR149 Synonymous SNV L251L 0.023 0.034 0.007 10 27 13 0.026 2 0 1 0 0 6.698 71627 chr3 155649576 155649576 A C rs61750370 GMPS Nonsynonymous SNV Y528S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 29.3 71628 chr3 156763479 156763479 A T rs77161337 LEKR1 Synonymous SNV S673S 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 1.213 71629 chr3 15686693 15686693 G C rs13078881 BTD Nonsynonymous SNV D424H 0.03 0.039 0.037 7 35 15 0.018 11 1 1 0 0 Pathogenic/Likely pathogenic 21.5 71630 chr2 63206366 63206366 G A rs773870111 EHBP1 Nonsynonymous SNV R835H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 71631 chr16 19020634 19020634 A G rs151053735 TMC7 Nonsynonymous SNV T70A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 71632 chr2 37505108 37505108 C T rs116096831 PRKD3 Synonymous SNV P399P 0.011 0.005 0.003 6 13 2 0.015 1 0 0 0 0 16.82 71633 chr2 36668594 36668594 A G rs34360681 CRIM1 Synonymous SNV K233K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.291 71634 chr2 37032639 37032639 C T rs147276376 VIT Synonymous SNV S371S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 71635 chr16 19471647 19471647 G A rs142366138 TMC5 Nonsynonymous SNV R134K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.8 71636 chr2 37505105 37505105 T G rs10460527 PRKD3 Synonymous SNV L400L 0.066 0.099 0.065 24 78 38 0.062 19 1 2 0 0 11.89 71637 chr2 38302513 38302513 G A rs749961213 CYP1B1 Nonsynonymous SNV P7S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.004 71638 chr2 37506939 37506939 A G rs3770761 PRKD3 Synonymous SNV D374D 0.038 0.047 0.041 13 45 18 0.033 12 0 0 0 0 7.996 71639 chr2 37543544 37543544 T C rs11896614 PRKD3 Nonsynonymous SNV N42D 0.031 0.042 0.034 13 36 16 0.033 10 0 0 0 0 14.04 71640 chr14 60405116 60405116 G A rs199981898 LRRC9 Synonymous SNV T184T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.22 71641 chr2 37579937 37579937 C T rs2230299 QPCT Synonymous SNV Y42Y 0.039 0.052 0.034 12 46 20 0.031 10 0 1 2 0 6.442 71642 chr2 37579971 37579971 C T rs2255991 QPCT Nonsynonymous SNV R54W 0.009 0.003 0 0 11 1 0 0 0 0 0 0 24.4 71643 chr3 161220921 161220921 G A rs199985412 OTOL1 Nonsynonymous SNV G209R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.3 71644 chr3 194118565 194118565 C T rs71316299 GP5 Synonymous SNV Q149Q 0.039 0.034 0.051 4 46 13 0.01 15 5 0 0 0 14.01 71645 chr2 241874429 241874429 A G CROCC2 Nonsynonymous SNV M630V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 71646 chr16 20370743 20370743 G A rs369605247 PDILT Synonymous SNV P551P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.347 71647 chr3 195063347 195063347 G A rs79748295 ACAP2 Synonymous SNV F127F 0.01 0.008 0.014 5 12 3 0.013 4 0 0 1 0 12.01 71648 chr3 168810845 168810845 G A rs368424856 MECOM Nonsynonymous SNV A826V 0.008 0.013 0 7 9 5 0.018 0 0 0 0 0 25.6 71649 chr2 43452487 43452487 C A rs149768432 ZFP36L2 Synonymous SNV T152T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 71650 chr3 170198942 170198942 C T rs114883808 SLC7A14 Nonsynonymous SNV V377I 0.007 0.005 0.007 7 8 2 0.018 2 0 0 0 0 Benign 24.1 71651 chr3 121202233 121202233 C T rs754053473 POLQ Synonymous SNV K1990K 0.006 0.01 0 0 7 4 0 0 0 0 0 0 16.68 71652 chr3 121206620 121206620 G A rs139982859 POLQ Nonsynonymous SNV L1720F 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.01 71653 chr16 20963832 20963832 C T rs147732992 DNAH3 Nonsynonymous SNV R3658K 0.022 0.029 0.007 15 26 11 0.038 2 0 0 0 1 Benign 25 71654 chr16 21030965 21030965 G A rs148237228 DNAH3 Synonymous SNV N1955N 0.022 0.029 0.007 15 26 11 0.038 2 0 0 0 1 Benign 7.836 71655 chr3 193272447 193272448 GT - ATP13A4-AS1 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 71656 chr3 172631461 172631461 A G rs62622782 SPATA16 Nonsynonymous SNV M526T 0.026 0.018 0.024 8 31 7 0.021 7 0 0 0 0 Likely benign 6.898 71657 chr3 172631512 172631512 G A rs115095786 SPATA16 Nonsynonymous SNV A509V 0.026 0.018 0.017 8 31 7 0.021 5 0 0 0 0 Likely benign 24.8 71658 chr16 2246428 2246428 C T CASKIN1 Synonymous SNV G2G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.859 71659 chr16 230871 230871 T A rs780729527 HBQ1 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 22.9 71660 chr3 196388402 196388402 G T rs78670696 NRROS Nonsynonymous SNV V630L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 71661 chr3 196613072 196613072 A C rs34251880 SENP5 Nonsynonymous SNV L340F 0.013 0.018 0.01 10 15 7 0.026 3 0 0 0 1 17.36 71662 chr2 53941684 53941684 C T rs61730532 ASB3, GPR75-ASB3 Nonsynonymous SNV A200T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.973 71663 chr2 54080895 54080895 G A GPR75 Synonymous SNV C333C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.449 71664 chr2 53995128 53995128 C T rs758240577 CHAC2 Synonymous SNV G35G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.93 71665 chr3 196742243 196742243 C T rs45625439 MELTF Nonsynonymous SNV R409Q 0.009 0.005 0.003 6 11 2 0.015 1 0 0 0 0 16.06 71666 chr3 195495994 195495994 C T rs533456834 MUC4 Synonymous SNV T189T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.05 71667 chr3 196744084 196744084 C T rs139304153 MELTF Nonsynonymous SNV D264N 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 14.03 71668 chr16 2475787 2475787 C A rs4238910 ABCA17P 0 0 0.014 0 0 0 0 4 0 0 2 0 6.718 71669 chr2 26541813 26541813 T A rs150568284 ADGRF3 Nonsynonymous SNV R35S 0.009 0.008 0.014 7 11 3 0.018 4 0 0 1 0 8.939 71670 chr2 55096450 55096450 C T rs183857870 EML6 Synonymous SNV D728D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 14.65 71671 chr14 68066780 68066780 C A rs10134513 PIGH Synonymous SNV T47T 0.013 0.013 0.003 3 15 5 0.008 1 0 0 0 0 22.9 71672 chr14 68066849 68066849 C T rs28521930 PIGH Synonymous SNV P24P 0.013 0.013 0.003 3 15 5 0.008 1 0 0 0 0 22.6 71673 chr16 25043569 25043569 A G rs7498149 LOC554206 0 0 0.378 0 0 0 0 111 0 0 17 0 6.603 71674 chr16 2512504 2512504 G A rs11552287 TEDC2 Nonsynonymous SNV R280H 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 9.721 71675 chr2 74688563 74688563 C T rs35533773 MOGS Nonsynonymous SNV G785S 0.013 0.01 0 5 15 4 0.013 0 0 0 0 0 Benign 6.076 71676 chr16 2550406 2550406 G A rs12373107 TBC1D24 Synonymous SNV S474S 0.012 0.021 0.02 10 14 8 0.026 6 0 0 0 0 Benign/Likely benign 10.62 71677 chr2 56419921 56419921 C G CCDC85A Nonsynonymous SNV L196V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 71678 chr3 29628639 29628639 C T rs3773104 RBMS3 Synonymous SNV A113A 0.04 0.057 0.031 13 47 22 0.033 9 3 2 0 0 20.5 71679 chr16 27506188 27506188 T C rs150452029 GTF3C1 Nonsynonymous SNV I892V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 71680 chr2 60773406 60773406 C G rs150125298 BCL11A Nonsynonymous SNV D29H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25.4 71681 chr2 74702756 74702756 C T rs13385919 CCDC142 Nonsynonymous SNV R534Q 0.012 0.01 0 5 14 4 0.013 0 0 0 0 0 28.3 71682 chr3 195935388 195935388 T G rs764201125 ZDHHC19 Nonsynonymous SNV H151P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 71683 chr2 61121536 61121536 T C REL Nonsynonymous SNV M53T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 71684 chr2 74719154 74719154 T C rs111251185 TTC31 Synonymous SNV A300A 0.012 0.01 0 5 14 4 0.013 0 0 0 0 0 8.309 71685 chr2 74719816 74719816 G A rs111415294 TTC31 Nonsynonymous SNV G402D 0.012 0.01 0 5 14 4 0.013 0 0 0 0 0 0.297 71686 chr2 74720079 74720079 C T rs111333876 TTC31 Nonsynonymous SNV P432S 0.012 0.01 0 5 14 4 0.013 0 0 0 0 0 6.243 71687 chr3 183994447 183994447 C T rs13063766 ECE2 Nonsynonymous SNV T73I 0.066 0.065 0.071 22 78 25 0.056 21 2 0 1 0 17.62 71688 chr2 74720098 74720098 T A rs111256156 TTC31 Nonsynonymous SNV L438H 0.012 0.01 0 5 14 4 0.013 0 0 0 0 0 22.7 71689 chr16 28499964 28499964 G A rs137906617 CLN3 Stop gain R8X 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 12.63 71690 chr16 28506813 28506813 G T rs772800520 APOBR Nonsynonymous SNV D151Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.953 71691 chr3 196674364 196674364 G A rs147586057 PIGZ Synonymous SNV P468P 0.012 0.005 0.007 3 14 2 0.008 2 0 0 0 0 1.39 71692 chr2 74867389 74867389 C T rs3025980 M1AP Nonsynonymous SNV R5Q 0.011 0.01 0.003 4 13 4 0.01 1 0 0 0 0 0.651 71693 chr2 63169975 63169975 G A rs138897020 EHBP1 Synonymous SNV S436S 0.046 0.044 0.048 17 54 17 0.044 14 1 0 0 2 8.788 71694 chr2 27728689 27728689 T A GCKR Synonymous SNV I285I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.257 71695 chr2 65216817 65216817 G A rs149636167 SLC1A4 Nonsynonymous SNV A14T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Uncertain significance 21.5 71696 chr2 75921441 75921441 G C rs6742946 GCFC2 Nonsynonymous SNV Q147E 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 1.098 71697 chr2 64863301 64863301 C T rs143647600 SERTAD2 Synonymous SNV T235T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.28 71698 chr16 28995145 28995145 C T rs4788114 SPNS1 Synonymous SNV F379F 0.038 0.049 0.014 13 45 19 0.033 4 2 0 0 0 19.12 71699 chr2 84676864 84676864 C G rs369610897 SUCLG1 Nonsynonymous SNV G37A 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 71700 chr2 237489661 237489661 A G ACKR3 Nonsynonymous SNV T185A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.16 71701 chr2 68358428 68358428 C T rs760604656 WDR92 Nonsynonymous SNV C339Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 32 71702 chr2 238289979 238289979 A G rs773433402 COL6A3 Synonymous SNV T85T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.009 71703 chr14 74823701 74823701 G A rs45593432 VRTN Nonsynonymous SNV R72Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.8 71704 chr2 85981782 85981782 - CGCACCGCCCGCGCGCCC rs759894659 ATOH8 P165_S166insPARPAP 0.003 0 0 1 4 0 0.003 0 0 0 0 0 71705 chr16 30674083 30674083 C G rs184406561 FBRS Nonsynonymous SNV L320V 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 9.994 71706 chr2 70064786 70064786 A G rs150320251 GMCL1 Nonsynonymous SNV K123R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 71707 chr2 70408629 70408629 C T rs755868066 C2orf42 Synonymous SNV P163P 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 11.77 71708 chr3 33135448 33135448 G - TMPPE C81Vfs*26 0.001 0.003 0 0 1 1 0 0 0 0 0 0 71709 chr2 95766622 95766622 A G rs113198616 MRPS5 Synonymous SNV V197V 0.026 0.018 0.003 3 30 7 0.008 1 0 0 0 0 4.342 71710 chr3 36898757 36898757 G A rs201496206 TRANK1 Nonsynonymous SNV T775M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.35 71711 chr3 128707600 128707600 C A rs116187304 KIAA1257 Nonsynonymous SNV A30S 0.003 0.005 0.01 5 3 2 0.013 3 0 0 1 0 25 71712 chr2 96954850 96954850 C T rs375398775 SNRNP200 Synonymous SNV E1033E 0.007 0.003 0 0 8 1 0 0 0 0 0 0 17.33 71713 chr2 33246146 33246146 G A rs35340726 LTBP1 Nonsynonymous SNV E246K 0.025 0.01 0.027 8 29 4 0.021 8 1 0 0 0 19.5 71714 chr2 73613031 73613031 - GGAGGAGGA rs193922695 ALMS1 E28_A29insEEE 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 71715 chr3 39543576 39543576 G A rs754856552 MOBP Nonsynonymous SNV A6T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.962 71716 chr3 39544113 39544113 G A rs779336179 MOBP Synonymous SNV R98R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.53 71717 chr16 31447499 31447499 G C rs76281122 ZNF843 Synonymous SNV G224G 0.01 0.016 0.007 5 12 6 0.013 2 0 0 0 0 0.405 71718 chr3 40231383 40231383 C T rs55785561 MYRIP Nonsynonymous SNV P178L 0.053 0.063 0.051 30 62 24 0.077 15 4 1 0 1 9.448 71719 chr3 40275461 40275461 C T rs34800524 MYRIP Nonsynonymous SNV P486S 0.04 0.049 0.034 22 47 19 0.056 10 1 1 0 0 4.71 71720 chr3 129370384 129370384 G T TMCC1 Synonymous SNV L461L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.113 71721 chr2 74596527 74596527 C T rs17721059 DCTN1 Nonsynonymous SNV R361Q 0.031 0.039 0.024 13 36 15 0.033 7 0 0 0 0 Benign 22.6 71722 chr3 12942939 12942939 G A rs531061235 IQSEC1 Synonymous SNV P963P 0.009 0.005 0 0 11 2 0 0 0 0 0 0 12.69 71723 chr16 334920 334920 C T rs45619835 PDIA2 Stop gain Q195X 0.006 0.016 0.014 4 7 6 0.01 4 1 0 0 0 33 71724 chr3 42660567 42660567 G A rs73085303 NKTR Synonymous SNV T63T 0.039 0.031 0.058 16 46 12 0.041 17 1 1 0 0 14.39 71725 chr16 336888 336888 - A rs199887121 PDIA2 Frameshift insertion N493Kfs*64 0.005 0.01 0.017 2 6 4 0.005 5 0 0 0 0 71726 chr2 73486420 73486420 G T rs777475319 FBXO41 Synonymous SNV I818I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.03 71727 chr2 99012749 99012749 C T rs201649850 CNGA3 Synonymous SNV P354P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.802 71728 chr2 3756146 3756146 C T rs191299579 DCDC2C Nonsynonymous SNV H99Y 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 23.8 71729 chr2 99179971 99179971 C G rs61748143 INPP4A Synonymous SNV T583T 0.007 0 0 8 8 0 0.021 0 0 0 0 0 11.86 71730 chr3 39119698 39119698 C G rs747971922 WDR48 Nonsynonymous SNV P266R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.1 71731 chr16 417691 417691 C G rs114486517 MRPL28 Nonsynonymous SNV R252T 0.016 0.013 0.024 6 19 5 0.015 7 0 0 0 0 10.14 71732 chr2 74717554 74717554 G A rs140012562 TTC31 Nonsynonymous SNV S139N 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 12.37 71733 chr16 422158 422158 G A rs113865847 TMEM8A Synonymous SNV S715S 0.015 0.013 0.024 6 18 5 0.015 7 0 0 0 0 6.969 71734 chr2 43902757 43902757 C G rs143787127 C1GALT1C1L Nonsynonymous SNV E235D 0.019 0.008 0.041 10 22 3 0.026 12 1 0 1 0 13.64 71735 chr14 88945407 88945407 C G rs3825676 PTPN21 Nonsynonymous SNV G790R 0.026 0.021 0.017 12 30 8 0.031 5 0 0 0 1 19.77 71736 chr2 24974958 24974958 C T rs1804645 NCOA1 Nonsynonymous SNV P1272S 0.032 0.042 0.014 24 37 16 0.062 4 0 0 0 1 22 71737 chr14 89087222 89087222 A G EML5 Nonsynonymous SNV Y1751H 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 71738 chr3 41723280 41723280 G A rs6763446 ULK4 Synonymous SNV L631L 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 11.78 71739 chr3 108284214 108284214 G A rs115693355 CIP2A Synonymous SNV Y501Y 0.004 0.008 0.01 1 5 3 0.003 3 0 1 0 0 5.818 71740 chr3 19992444 19992444 A T rs11545950 RAB5A Synonymous SNV I18I 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 2.446 71741 chr3 41860955 41860955 A G rs17063572 ULK4 Nonsynonymous SNV L301S 0.014 0.008 0.014 3 16 3 0.008 4 0 0 0 0 9.817 71742 chr2 9614696 9614696 A G rs553167631 IAH1 Star tloss M1? 0.009 0.005 0 0 10 2 0 0 0 0 0 0 14.45 71743 chr3 25215966 25215966 G A rs58927428 RARB Synonymous SNV P26P 0.026 0.016 0.014 16 30 6 0.041 4 0 0 0 0 10.15 71744 chr14 91804487 91804487 G A rs61736349 CCDC88C Synonymous SNV D304D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 10.42 71745 chr3 42251580 42251580 - GGAGGA TRAK1 E624_G625insEE 0.06 0.055 0 13 71 21 0.033 0 0 0 0 0 71746 chr2 47378611 47378611 T C rs71423949 STPG4 Nonsynonymous SNV E62G 0.009 0.003 0.034 7 11 1 0.018 10 0 0 0 0 28.3 71747 chr2 96992526 96992526 C T rs150763324 ITPRIPL1 Nonsynonymous SNV R61C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 26.3 71748 chr3 109056363 109056363 A G rs16855561 DPPA4 Star tloss M1? 0.022 0.042 0.01 15 26 16 0.038 3 0 0 0 0 7.427 71749 chr3 11064091 11064091 G A rs6344 SLC6A1 Synonymous SNV T39T 0.012 0.008 0 4 14 3 0.01 0 0 0 0 1 Benign/Likely benign 14.08 71750 chr3 111775916 111775916 T C TMPRSS7 Synonymous SNV Y290Y 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.106 71751 chr3 46414557 46414557 T A rs1799863 CCR5 Nonsynonymous SNV L55Q 0.024 0.034 0.027 15 28 13 0.038 8 0 0 0 0 24.3 71752 chr2 54587560 54587560 A T rs142835828 C2orf73 Nonsynonymous SNV D121V 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 28.5 71753 chr3 112538679 112538680 AG - rs757447990 CD200R1L L248Ffs*46 0.003 0 0 2 4 0 0.005 0 0 0 0 0 71754 chr3 44540766 44540766 C T rs62251380 ZNF852 Nonsynonymous SNV G501R 0.015 0.01 0.014 8 18 4 0.021 4 0 0 0 0 13.24 71755 chr3 14745892 14745892 G A rs148510620 C3orf20 Nonsynonymous SNV M187I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.331 71756 chr3 112993223 112993223 C T rs147556461 BOC Synonymous SNV S412S 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 5.516 71757 chr2 27887160 27887160 C T rs9679004 SLC4A1AP Nonsynonymous SNV R181C 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 24.2 71758 chr14 94953705 94953705 T C rs34519784 SERPINA12 Nonsynonymous SNV I394V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.016 71759 chr3 37366982 37366982 A G rs372023194 GOLGA4 Nonsynonymous SNV K1202R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 71760 chr3 37367547 37367547 C A rs142148069 GOLGA4 Synonymous SNV S1390S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 9.421 71761 chr2 61310321 61310321 T C rs757076141 KIAA1841 Synonymous SNV N108N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.656 71762 chr3 38045818 38045818 C T rs201627917 VILL Synonymous SNV L423L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 71763 chr3 44974433 44974433 A C rs3087823 ZDHHC3 Nonsynonymous SNV H220Q 0.018 0.013 0.017 8 21 5 0.021 5 0 0 0 0 0.023 71764 chr3 4817102 4817102 T C ITPR1 Synonymous SNV C1989C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.182 71765 chr3 38058044 38058044 C T rs72863996 PLCD1 Synonymous SNV V143V 0.017 0.018 0.017 9 20 7 0.023 5 0 0 0 0 15.34 71766 chr16 55735795 55735795 G A rs5560 SLC6A2 Synonymous SNV T488T 0.004 0.008 0.014 0 5 3 0 4 0 0 0 0 Benign 13.89 71767 chr3 38153707 38153707 T C rs377030183 DLEC1 Nonsynonymous SNV M1177T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.587 71768 chr16 56652093 56652093 G A rs2001986 MT1L 0 0 0.031 0 0 0 0 9 0 0 0 0 6.573 71769 chr16 56652635 56652635 C A rs61732351 MT1L 0 0 0.031 0 0 0 0 9 0 0 0 0 2.835 71770 chr16 56652655 56652655 T C rs61734111 MT1L 0 0 0.017 0 0 0 0 5 0 0 0 0 2.525 71771 chr3 151094961 151094961 C G MED12L Nonsynonymous SNV F1402L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.36 71772 chr3 10280465 10280465 C A rs9854688 IRAK2 Nonsynonymous SNV L503I 0.014 0.013 0.014 4 17 5 0.01 4 0 0 0 0 7.293 71773 chr2 29295866 29295866 T C rs17007544 PCARE Nonsynonymous SNV K421R 0.054 0.068 0.071 23 63 26 0.059 21 4 0 0 1 Benign 23.5 71774 chr3 151161596 151161596 C T rs148647913 IGSF10 Synonymous SNV V1713V 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 11.93 71775 chr2 68882138 68882138 G T rs34234285 PROKR1 Synonymous SNV T204T 0.029 0.023 0.034 3 34 9 0.008 10 0 0 0 0 2.911 71776 chr3 111286375 111286375 G C rs2276872 CD96 Nonsynonymous SNV A142P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.433 71777 chr3 111603962 111603962 C T rs34300089 PHLDB2 Synonymous SNV T346T 0.013 0.018 0.003 6 15 7 0.015 1 0 0 0 0 8.834 71778 chr3 108175695 108175695 G C rs764665272 MYH15 Nonsynonymous SNV R706G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.841 71779 chr14 102452093 102452093 C A DYNC1H1 Nonsynonymous SNV L511I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 71780 chr14 102477207 102477207 G A DYNC1H1 Nonsynonymous SNV R2179Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 71781 chr3 109033374 109033374 A G rs138023327 DPPA2 Synonymous SNV L6L 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 0.218 71782 chr2 3278163 3278163 G A rs149393347 EIPR1 Nonsynonymous SNV S96F 0.01 0.003 0.02 5 12 1 0.013 6 1 0 0 0 2.135 71783 chr3 111603889 111603889 A G rs766593215 PHLDB2 Nonsynonymous SNV N322S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.001 71784 chr3 39225946 39225946 C T rs201067793 XIRP1 Nonsynonymous SNV R347Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 71785 chr14 103450082 103450082 G A rs113602206 CDC42BPB Synonymous SNV S234S 0.008 0 0 0 9 0 0 0 0 0 0 0 13.42 71786 chr3 50225294 50225294 G A rs775031605 SEMA3F Nonsynonymous SNV V603I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.61 71787 chr3 113015687 113015687 C T rs201886712 CFAP44 Nonsynonymous SNV R1708H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 71788 chr3 4699936 4699936 G C rs2306869 ITPR1 Synonymous SNV L360L 0.011 0.005 0.02 8 13 2 0.021 6 0 0 0 0 Benign 6.369 71789 chr14 103573872 103573872 C T rs570268756 EXOC3L4 Nonsynonymous SNV R565W 0.007 0 0 0 8 0 0 0 0 0 0 0 16.07 71790 chr3 40503520 40503520 - CTGCTGCTGCTG RPL14 A159_K160insAAAA 0.021 0.01 0.003 6 25 4 0.015 1 1 0 0 0 71791 chr3 160804167 160804167 C T rs2231257 B3GALNT1 Nonsynonymous SNV D126N 0.061 0.055 0.048 17 72 21 0.044 14 3 0 1 0 14.44 71792 chr3 41288466 41288466 G A rs6769117 ULK4 Nonsynonymous SNV A959V 0.02 0.029 0.031 10 24 11 0.026 9 0 1 0 0 1.595 71793 chr3 160956548 160956548 A G rs11539155 NMD3 Synonymous SNV Q229Q 0.066 0.07 0.017 20 77 27 0.051 5 3 0 1 0 7.653 71794 chr2 36825170 36825170 T C rs2287104 FEZ2 Nonsynonymous SNV E39G 0.031 0.047 0 16 36 18 0.041 0 18 9 0 8 0.073 71795 chr3 121351257 121351257 C T rs77852202 HCLS1 Nonsynonymous SNV E351K 0.036 0.047 0.048 19 42 18 0.049 14 0 1 2 2 12.73 71796 chr3 419505 419505 A G rs139633553 CHL1 Nonsynonymous SNV I586V 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 5.547 71797 chr2 37513340 37513340 C T rs141998414 PRKD3 Nonsynonymous SNV R297H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 34 71798 chr3 4715048 4715048 T A rs145220403 ITPR1 Synonymous SNV I796I 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Benign 12.26 71799 chr16 603028 603063 CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC - CAPN15 P1024Afs*33 0.005 0.008 0.02 1 6 3 0.003 6 0 0 0 0 71800 chr3 121415111 121415111 A G rs200956055 GOLGB1 Nonsynonymous SNV L1340P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 71801 chr3 164785196 164785196 C T rs76463353 SI Synonymous SNV L189L 0.029 0.026 0.037 10 34 10 0.026 11 1 0 0 0 Likely benign 7.952 71802 chr3 164906806 164906806 T C rs3828419 SLITRK3 Nonsynonymous SNV I605V 0.033 0.023 0.027 11 39 9 0.028 8 0 0 0 0 0.004 71803 chr2 73613032 73613040 GGAGGAGGA - rs864622738 ALMS1 E26_E28del 0.011 0 0 4 13 0 0.01 0 0 0 0 0 71804 chr2 73613035 73613040 GGAGGA - ALMS1 E27_E28del 0.004 0 0 0 5 0 0 0 0 0 0 0 71805 chr3 47450737 47450737 A G rs755935569 PTPN23 Nonsynonymous SNV Q450R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.4 71806 chr16 65397291 65397291 T C rs58616603 LINC00922 0 0 0.078 0 0 0 0 23 0 0 1 0 2.945 71807 chr16 66761616 66761616 T C rs10990 DYNC1LI2 Synonymous SNV V335V 0.009 0.01 0.017 8 10 4 0.021 5 1 0 0 0 6.846 71808 chr3 52551609 52551609 G A rs201719784 STAB1 Nonsynonymous SNV R1536Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.36 71809 chr3 17053001 17053001 C T rs61751587 PLCL2 Synonymous SNV N595N 0.03 0.021 0.031 13 35 8 0.033 9 0 0 0 0 9.635 71810 chr16 67685900 67685900 C T rs78320020 CARMIL2 Nonsynonymous SNV R889W 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 34 71811 chr3 113329939 113329939 A G rs34023543 SIDT1 Nonsynonymous SNV Y540C 0.015 0.013 0.01 7 18 5 0.018 3 0 0 0 0 27.1 71812 chr3 122288314 122288314 A G rs34308498 DTX3L Nonsynonymous SNV K460E 0.01 0.008 0.007 4 12 3 0.01 2 0 0 0 0 11.18 71813 chr3 44285400 44285400 C T rs187914521 TOPAZ1 Nonsynonymous SNV R468W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.59 71814 chr3 119531805 119531805 C T rs114545122 NR1I2 Synonymous SNV F264F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Likely benign 16.27 71815 chr3 120977947 120977947 A G STXBP5L Synonymous SNV Q630Q 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 5.043 71816 chr16 68867273 68867273 C T rs140328601 CDH1 Synonymous SNV S779S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 17.61 71817 chr3 45130614 45130614 G A rs146276858 CDCP1 Synonymous SNV I671I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.215 71818 chr14 105958493 105958493 G A rs782240464 TEDC1 Synonymous SNV P92P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.008 71819 chr3 124103870 124103870 C T rs141149712 KALRN Nonsynonymous SNV T648I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.2 71820 chr3 124207104 124207104 G A rs756171017 KALRN Synonymous SNV E1394E 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 6.921 71821 chr16 70605093 70605093 C T rs34327223 SF3B3 Synonymous SNV F1168F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.25 71822 chr3 124515354 124515354 C T rs61736434 ITGB5 Nonsynonymous SNV R372H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 71823 chr16 70806324 70806324 T G rs28676580 VAC14-AS1 0 0 0.102 0 0 0 0 30 0 0 6 0 5.258 71824 chr16 70819650 70819650 G A rs574284363 VAC14 Synonymous SNV G126G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 71825 chr3 57312678 57312678 C T rs545957699 ASB14 Synonymous SNV P101P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 71826 chr3 183823565 183823565 C T rs781513210 HTR3E Nonsynonymous SNV R271C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 71827 chr16 72124598 72124598 C T rs145796533 TXNL4B Synonymous SNV A17A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 71828 chr3 58639418 58639418 C T rs13097314 FAM3D Nonsynonymous SNV R35H 0.009 0.016 0.01 3 11 6 0.008 3 0 0 0 0 23.4 71829 chr16 721724 721724 G A rs773329111 RHOT2 Synonymous SNV T248T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.999 71830 chr3 4735398 4735398 G T rs142527379 ITPR1 Synonymous SNV V1403V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 9.273 71831 chr3 122419509 122419509 A G rs372058832 PARP14 Nonsynonymous SNV Q703R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.069 71832 chr2 96689178 96689178 G A rs11693649 GPAT2 Nonsynonymous SNV S571F 0.015 0.008 0.007 6 18 3 0.015 2 0 0 0 0 16.64 71833 chr3 126180638 126180638 C T rs759219994 ZXDC Nonsynonymous SNV D623N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 71834 chr15 32935794 32935794 A G rs374087954 ARHGAP11A-SCG5, SCG5 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.598 71835 chr16 72992316 72992316 C T rs62640001 ZFHX3 Nonsynonymous SNV V577I 0 0 0.007 0 0 0 0 2 0 0 0 0 14.1 71836 chr2 55791601 55791601 C T rs769286390 PPP4R3B Nonsynonymous SNV R618H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 71837 chr2 96798440 96798440 C T rs61735195 ASTL Nonsynonymous SNV R159H 0.021 0.01 0.024 2 25 4 0.005 7 0 0 0 0 29.9 71838 chr15 33916152 33916152 T A rs2229118 RYR3 Synonymous SNV I834I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.58 71839 chr3 48696521 48696521 G A rs150368002 CELSR3 Nonsynonymous SNV R1183C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.7 71840 chr3 122354894 122354894 G T rs758385054 PARP15 Nonsynonymous SNV V359L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.7 71841 chr2 62067671 62067671 T C rs372171263 FAM161A Synonymous SNV T156T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 7.831 71842 chr3 51980193 51980193 C T rs201871119 PARP3 Synonymous SNV F377F 0.009 0.01 0.01 4 11 4 0.01 3 0 0 0 0 14.06 71843 chr3 186370407 186370407 T C rs116030393 FETUB Nonsynonymous SNV V314A 0.013 0.005 0 4 15 2 0.01 0 0 0 0 0 14.07 71844 chr3 128618283 128618283 T C rs1979529 ACAD9 Synonymous SNV L263L 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 Benign 9.629 71845 chr3 128651578 128651578 T G rs78159234 KIAA1257 Nonsynonymous SNV M615L 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 3.873 71846 chr3 128651579 128651579 A C rs78242619 KIAA1257 Synonymous SNV L614L 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 0.042 71847 chr3 128651796 128651796 G A rs61738926 KIAA1257 Nonsynonymous SNV T542M 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 2.32 71848 chr3 100277331 100277331 G T rs114609190 TMEM45A Synonymous SNV L162L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 3.486 71849 chr3 100374810 100374810 G A rs41272977 ADGRG7 Synonymous SNV Q303Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 0.391 71850 chr16 81095316 81095316 G A rs138763234 C16orf46 Nonsynonymous SNV P213L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.4 71851 chr3 100451488 100451488 G A rs35648279 TFG Synonymous SNV A184A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 12.84 71852 chr3 125786853 125786853 G A rs57029085 SLC41A3 Synonymous SNV T70T 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 7.458 71853 chr3 100494090 100494090 T C rs41273547 ABI3BP Nonsynonymous SNV I764V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.312 71854 chr3 100529307 100529307 G A rs115676129 ABI3BP Nonsynonymous SNV P1052S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 19.91 71855 chr3 124731709 124731709 C T rs201407007 HEG1 Nonsynonymous SNV R905Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.06 71856 chr3 130098653 130098653 G T rs151095015 COL6A5 Nonsynonymous SNV V354L 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 22.8 71857 chr3 51411945 51411947 TGT - rs548892600 DOCK3 L1783del 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 71858 chr3 190936577 190936577 A G rs34687554 OSTN Synonymous SNV T48T 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 Benign 0.208 71859 chr3 130132401 130132401 C T rs190283135 COL6A5 Stop gain Q1559X 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 38 71860 chr3 53217168 53217168 C T rs75794462 PRKCD Synonymous SNV I220I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 13.3 71861 chr3 192980922 192980922 G A rs34398450 PLAAT1 Synonymous SNV R101R 0.009 0.005 0.017 1 11 2 0.003 5 0 0 0 0 Benign 8.665 71862 chr3 193023446 193023446 C T rs61748338 ATP13A5 Synonymous SNV A860A 0.009 0.005 0.01 1 10 2 0.003 3 0 0 0 0 17.55 71863 chr3 193032081 193032081 A G rs9861851 ATP13A5-AS1 0.009 0.005 0.01 1 11 2 0.003 3 1 0 0 0 1.557 71864 chr2 71127794 71127794 C A rs2234495 VAX2 Synonymous SNV R15R 0.03 0.023 0.065 13 35 9 0.033 19 8 1 2 2 23.1 71865 chr3 98189012 98189012 G C rs139481579 OR5K1 Nonsynonymous SNV V198L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.07 71866 chr3 131068497 131068497 C T rs12637848 NEK11 Nonsynonymous SNV A468V 0.014 0.016 0 7 17 6 0.018 0 1 0 0 0 12.21 71867 chr3 131068509 131068509 A G rs12632399 NEK11 Nonsynonymous SNV K472R 0.014 0.016 0 7 17 6 0.018 0 1 0 0 0 0.064 71868 chr3 52402844 52402844 G A rs80128076 DNAH1 Synonymous SNV V1951V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 7.631 71869 chr3 131100956 131100956 C G rs150437674 NUDT16 Nonsynonymous SNV L23V 0.014 0.016 0 7 16 6 0.018 0 0 0 0 0 Benign 25.5 71870 chr3 128181471 128181471 G A rs36034445 DNAJB8 Synonymous SNV R206R 0.035 0.031 0.01 12 41 12 0.031 3 2 0 0 0 3.874 71871 chr3 128200072 128200072 C T rs34172218 GATA2 Synonymous SNV A397A 0.058 0.031 0.034 13 68 12 0.033 10 0 0 1 0 Benign/Likely benign 15.01 71872 chr3 132061458 132061458 G A rs755850776 ACP3 Stop gain W173X 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 40 71873 chr16 84132862 84132862 T C MBTPS1 Nonsynonymous SNV I73V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 71874 chr3 12845013 12845013 C T rs62620196 CAND2 Nonsynonymous SNV S32L 0.018 0.008 0.007 5 21 3 0.013 2 0 0 0 0 17.7 71875 chr16 84205869 84205869 C T rs144393177 DNAAF1 Nonsynonymous SNV P275L 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 0.009 71876 chr3 9881875 9881875 T C rs113421140 RPUSD3 Nonsynonymous SNV T249A 0.021 0.029 0.014 10 25 11 0.026 4 0 0 0 0 0.727 71877 chr3 9885679 9885679 C G rs144970409 RPUSD3 Nonsynonymous SNV R7P 0.021 0.029 0.014 10 25 11 0.026 4 0 0 0 0 7.361 71878 chr3 111799867 111799867 G A TMPRSS7 Nonsynonymous SNV G697D 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 29.9 71879 chr2 71762413 71762413 G A rs61740288 DYSF Nonsynonymous SNV E458K 0.045 0.023 0.041 12 53 9 0.031 12 0 0 0 0 Conflicting interpretations of pathogenicity 35 71880 chr3 111821747 111821747 A G rs16859190 C3orf52 Nonsynonymous SNV I111V 0.038 0.042 0.068 11 45 16 0.028 20 0 0 1 0 0.004 71881 chr3 111842431 111842431 T C rs16859261 GCSAM Synonymous SNV T121T 0.039 0.042 0.061 10 46 16 0.026 18 0 0 1 0 0.04 71882 chr3 111842539 111842539 C T rs34879456 GCSAM Synonymous SNV G85G 0.039 0.042 0.058 10 46 16 0.026 17 0 0 1 0 9.695 71883 chr3 57132035 57132035 G A rs61742267 IL17RD Nonsynonymous SNV P566S 0.018 0.023 0.014 11 21 9 0.028 4 0 1 0 0 23.6 71884 chr3 129252473 129252473 C A rs138831590 RHO Nonsynonymous SNV T320N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.1 71885 chr3 130116684 130116684 G A rs79867908 COL6A5 Nonsynonymous SNV V1276I 0.061 0.07 0.054 23 72 27 0.059 16 2 1 0 0 3.053 71886 chr15 42115948 42115948 G A rs372334816 MAPKBP1 Nonsynonymous SNV R1301H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 71887 chr16 84495841 84495841 A G rs2241638 ATP2C2-AS1 0 0 0.068 0 0 0 0 20 0 0 6 0 1.618 71888 chr3 13670431 13670431 G T FBLN2 Stop gain E819X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 71889 chr4 100496105 100496105 C G rs7667001 MTTP Synonymous SNV S13S 0.032 0.031 0.034 14 37 12 0.036 10 0 0 0 0 Likely benign 13.22 71890 chr3 56675740 56675740 G A rs374605742 TASOR Synonymous SNV D356D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.3 71891 chr3 130190716 130190716 G A rs73868680 COL6A5 Nonsynonymous SNV A2589T 0.057 0.055 0.061 17 67 21 0.044 18 1 0 0 0 Benign 7.945 71892 chr2 74900877 74900879 CTT - rs755597684 SEMA4F F218del 0 0 0 1 0 0 0.003 0 0 0 0 0 71893 chr4 100512849 100512849 T C rs113557405 MTTP Synonymous SNV Y247Y 0.072 0.089 0.054 36 84 34 0.092 16 3 1 0 5 Benign 2.053 71894 chr16 86544210 86544210 - CGGCGGCGG FOXF1 G23_A24insGGG 0 0 0.003 0 0 0 0 1 0 0 0 0 71895 chr3 66431968 66431968 G A rs145814348 LRIG1 Nonsynonymous SNV A902V 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 3.37 71896 chr4 100518247 100518247 C A rs17029213 MTTP Synonymous SNV T338T 0.031 0.031 0.034 14 36 12 0.036 10 0 0 0 0 Likely benign 15.03 71897 chr4 100521805 100521805 A C rs17029215 MTTP Nonsynonymous SNV D411A 0.032 0.031 0.034 14 37 12 0.036 10 0 0 0 0 Benign/Likely benign 8.751 71898 chr4 100532602 100532602 G A rs113337987 MTTP Nonsynonymous SNV G688S 0.072 0.089 0.054 36 84 34 0.092 16 3 1 0 5 Benign/Likely benign 14.99 71899 chr4 100570781 100570781 G T rs7695727 C4orf54 Synonymous SNV T1675T 0.037 0.036 0.037 14 44 14 0.036 11 0 0 0 0 0.015 71900 chr4 100572182 100572182 G T rs35561084 C4orf54 Synonymous SNV P1208P 0.053 0.057 0.065 22 62 22 0.056 19 1 0 1 0 0.129 71901 chr4 100572365 100572365 G A rs35595171 C4orf54 Synonymous SNV S1147S 0.052 0.057 0.065 22 61 22 0.056 19 1 0 1 0 0.616 71902 chr4 100572746 100572746 C T rs17029267 C4orf54 Synonymous SNV A1020A 0.038 0.049 0.054 17 45 19 0.044 16 1 0 1 0 9.841 71903 chr4 100573302 100573302 A G rs115292032 C4orf54 Nonsynonymous SNV M835T 0.039 0.049 0.054 17 46 19 0.044 16 1 0 1 0 0.001 71904 chr4 100574726 100574726 G C rs13146743 C4orf54 Synonymous SNV P360P 0.039 0.049 0.054 18 46 19 0.046 16 1 0 1 0 0.012 71905 chr4 100574816 100574816 T C rs113550862 C4orf54 Synonymous SNV G330G 0.071 0.086 0.024 35 83 33 0.09 7 4 1 0 5 0.017 71906 chr2 84838965 84838965 C G DNAH6 Synonymous SNV A1154A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.06 71907 chr15 42618555 42618555 G A rs775841862 GANC Synonymous SNV K451K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.35 71908 chr2 84921479 84921479 A G rs573648962 DNAH6 Nonsynonymous SNV K2467E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 71909 chr2 85039465 85039465 A G rs201250087 DNAH6 Nonsynonymous SNV T3914A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.91 71910 chr3 14197840 14197840 G A rs2228004 XPC Synonymous SNV Y483Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.028 71911 chr3 14200382 14200382 G T rs74737358 XPC Nonsynonymous SNV P141H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.2 71912 chr3 130447530 130447530 - A rs370694100 PIK3R4 0.021 0.039 0.126 10 25 15 0.026 37 6 4 1 1 71913 chr3 142215233 142215233 G A rs112018640 ATR Synonymous SNV Y1892Y 0.01 0.003 0.007 2 12 1 0.005 2 0 0 0 0 Benign 10.77 71914 chr2 85781366 85781366 G A rs146085955 GGCX Synonymous SNV D206D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 12.52 71915 chr3 142268372 142268372 C T rs28910272 ATR Synonymous SNV L976L 0.008 0.005 0.044 3 9 2 0.008 13 0 0 0 0 Benign 11.92 71916 chr3 142269075 142269075 C T rs28910271 ATR Nonsynonymous SNV V895M 0.021 0.013 0.048 5 25 5 0.013 14 0 0 0 0 Benign 17.46 71917 chr3 142275353 142275353 C T rs28910270 ATR Synonymous SNV E586E 0.021 0.013 0.048 5 25 5 0.013 14 0 0 0 0 Benign 11.39 71918 chr3 19975160 19975160 A G rs73049870 EFHB Synonymous SNV L117L 0.009 0.01 0.014 5 10 4 0.013 4 0 0 0 0 0.746 71919 chr3 142280108 142280108 T C rs28897765 ATR Synonymous SNV K442K 0.021 0.013 0.048 5 25 5 0.013 14 0 0 0 0 Benign 0.107 71920 chr3 142281298 142281298 C T rs28897764 ATR Nonsynonymous SNV V316I 0.021 0.013 0.048 5 25 5 0.013 14 0 0 0 0 Benign 15.1 71921 chr3 24164510 24164510 A G rs13081063 THRB Synonymous SNV F386F 0.014 0.021 0.017 10 16 8 0.026 5 0 0 0 0 Benign/Likely benign 5.603 71922 chr3 142548560 142548560 A G rs35692900 PCOLCE2 Nonsynonymous SNV V280A 0.043 0.044 0.065 17 50 17 0.044 19 4 0 0 0 2.057 71923 chr3 14489107 14489107 G A rs62233560 SLC6A6 Nonsynonymous SNV V128I 0.013 0.01 0.003 4 15 4 0.01 1 0 0 0 0 12.48 71924 chr15 50494723 50494723 G A SLC27A2 Stop gain W243X 0.003 0 0 0 3 0 0 0 0 0 0 0 36 71925 chr4 106534600 106534600 A G rs58232303 ARHGEF38 Synonymous SNV S148S 0.012 0.01 0.02 5 14 4 0.013 6 0 0 0 0 6.492 71926 chr4 1067427 1067427 C T rs141381105 RNF212 Synonymous SNV A178A 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 12.11 71927 chr2 9580770 9580770 T C CPSF3 Nonsynonymous SNV V267A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.52 71928 chr3 121240967 121240967 C G rs143855278 POLQ Nonsynonymous SNV V380L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.08 71929 chr2 95845948 95845948 G A rs369215421 ZNF2 Nonsynonymous SNV G27R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.96 71930 chr3 133647212 133647212 G C rs77299600 C3orf36 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 2.822 71931 chr4 107249244 107249244 C G rs1134648 AIMP1 Nonsynonymous SNV P79A 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 16.11 71932 chr3 81627175 81627175 T C rs2228389 GBE1 Nonsynonymous SNV T507A 0.02 0.023 0.031 1 24 9 0.003 9 1 0 0 0 Benign/Likely benign 0.956 71933 chr16 88809243 88809243 A G rs28577575 LOC339059 0 0 0.565 0 0 0 0 166 0 0 70 0 0.711 71934 chr15 52017135 52017135 C T rs138439412 LYSMD2 Nonsynonymous SNV G62R 0.008 0.003 0.003 2 9 1 0.005 1 1 0 0 0 11.36 71935 chr3 13413371 13413371 G A rs41293405 NUP210 Synonymous SNV V583V 0.011 0.005 0.01 3 13 2 0.008 3 0 0 0 0 8.491 71936 chr3 149510115 149510115 C T rs372356779 ANKUB1 Synonymous SNV P13P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 12.12 71937 chr3 150908578 150908578 G T rs34501514 MED12L Nonsynonymous SNV D610Y 0.008 0.003 0.01 1 9 1 0.003 3 0 0 1 0 29.1 71938 chr3 1415659 1415659 G C CNTN6 Nonsynonymous SNV S562T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.37 71939 chr4 110236628 110236628 A G rs142948616 COL25A1-DT 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 9.253 71940 chr16 88947187 88947187 C T rs150852720 CBFA2T3 Nonsynonymous SNV R385H 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 32 71941 chr4 110442602 110442602 A G rs116940485 SEC24B Synonymous SNV L741L 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 7.649 71942 chr3 137717744 137717744 G A rs41265445 CLDN18 Nonsynonymous SNV V12M 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 15.09 71943 chr4 110667590 110667590 C T rs74817407 CFI Nonsynonymous SNV R399H 0.001 0.005 0.003 4 1 2 0.01 1 0 0 0 0 Benign 7.295 71944 chr3 36871124 36871124 T C rs147602680 TRANK1 Nonsynonymous SNV I2870V 0.019 0.013 0.01 5 22 5 0.013 3 0 0 0 0 3.56 71945 chr3 142408479 142408479 G A rs201261147 PLS1 Nonsynonymous SNV R334H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 71946 chr4 110772874 110772874 C G rs79039619 LRIT3 Nonsynonymous SNV R111G 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 Benign/Likely benign 31 71947 chr4 110773108 110773108 C T rs75301950 LRIT3 Nonsynonymous SNV L189F 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 Benign/Likely benign 4.803 71948 chr4 110791414 110791414 G A rs76587489 LRIT3 Synonymous SNV T503T 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 Benign/Likely benign 9.407 71949 chr3 151599315 151599315 A G rs371936774 SUCNR1 Synonymous SNV L328L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.35 71950 chr16 89258677 89258677 G T rs779984001 CDH15 Synonymous SNV L560L 0.002 0.016 0.003 5 2 6 0.013 1 0 1 0 0 Likely benign 8.705 71951 chr3 98188554 98188554 T C rs200654905 OR5K1 Nonsynonymous SNV L45S 0.003 0.008 0.017 2 3 3 0.005 5 0 0 0 0 11.7 71952 chr15 55916703 55916703 T G rs148011047 PRTG Nonsynonymous SNV K977T 0.016 0.026 0.003 3 19 10 0.008 1 0 0 0 0 29.1 71953 chr3 98304403 98304403 G A rs11921054 CPOX Nonsynonymous SNV R352C 0.007 0.01 0.02 4 8 4 0.01 6 0 0 1 0 Benign 19.47 71954 chr3 98312316 98312316 G A rs60690253 CPOX Synonymous SNV G11G 0.007 0.008 0.017 4 8 3 0.01 5 0 0 1 0 Benign 3.952 71955 chr3 38390054 38390054 C T rs78669311 XYLB Nonsynonymous SNV A24V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.04 71956 chr3 9871059 9871059 T C ARPC4-TTLL3, TTLL3 Nonsynonymous SNV F655L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 71957 chr3 14172381 14172381 C T rs34099410 TMEM43 Synonymous SNV P74P 0.015 0.018 0.01 7 18 7 0.018 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.77 71958 chr3 38655290 38655290 G A rs41276525 SCN5A Nonsynonymous SNV S216L 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 71959 chr3 148901302 148901302 G T CP Nonsynonymous SNV F792L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.9 71960 chr3 149089632 149089632 A G rs141567681 TM4SF1 Nonsynonymous SNV W146R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 24.2 71961 chr16 89784336 89784336 C T rs7190099 VPS9D1-AS1 0 0 0.344 0 0 0 0 101 0 0 24 0 4.35 71962 chr3 38991701 38991701 C A rs187927728 SCN11A Synonymous SNV R51R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.47 71963 chr4 100570653 100570653 G A rs550870913 C4orf54 Nonsynonymous SNV A1718V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.292 71964 chr15 59323192 59323192 T C rs146297677 RNF111 Synonymous SNV N57N 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 0.688 71965 chr4 120442121 120442121 A G rs199872206 PDE5A Nonsynonymous SNV M625T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.4 71966 chr15 62204043 62204043 G A rs115869241 VPS13C Nonsynonymous SNV S2861L 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 Likely benign 26.7 71967 chr17 10231268 10231268 C T rs147387198 MYH13 Nonsynonymous SNV R869Q 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 23.4 71968 chr3 39307962 39307962 C A rs41535248 CX3CR1 Nonsynonymous SNV E13D 0.005 0.01 0.01 7 6 4 0.018 3 0 0 0 0 Benign 2.708 71969 chr17 10248518 10248518 C T rs773929045 MYH13 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 71970 chr17 1028676 1028676 C T rs117732533 ABR Nonsynonymous SNV D289N 0.009 0.016 0.003 9 11 6 0.023 1 0 0 0 0 24.4 71971 chr3 151545928 151545928 C T AADAC Stop gain Q390X 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 35 71972 chr3 167512569 167512569 G A rs55872908 SERPINI1 Nonsynonymous SNV A280T 0.013 0.008 0.027 4 15 3 0.01 8 0 0 0 0 Benign/Likely benign 11.4 71973 chr3 148757909 148757909 A G rs61750365 HLTF Nonsynonymous SNV I803T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.1 71974 chr3 110852999 110852999 C T rs34163852 NECTIN3 Synonymous SNV N529N 0.02 0.029 0.037 9 24 11 0.023 11 0 0 0 0 9.008 71975 chr3 111775906 111775906 T C rs141142047 TMPRSS7 Nonsynonymous SNV F287S 0.018 0 0.014 7 21 0 0.018 4 0 0 0 0 31 71976 chr3 155199598 155199598 C T rs150381264 PLCH1 Nonsynonymous SNV R1406H 0.015 0.018 0.007 7 18 7 0.018 2 0 0 0 0 0.41 71977 chr3 171427413 171427413 T G rs368280106 PLD1 Nonsynonymous SNV N333T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 71978 chr4 126389831 126389831 C T rs138019311 FAT4 Nonsynonymous SNV R4024W 0.013 0.013 0.014 2 15 5 0.005 4 0 0 1 0 Conflicting interpretations of pathogenicity 25.5 71979 chr3 155551740 155551740 T C rs749048114 SLC33A1 Nonsynonymous SNV N289S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.88 71980 chr4 126408532 126408532 T C rs78040862 FAT4 Synonymous SNV D4285D 0.027 0.021 0.014 6 32 8 0.015 4 0 0 1 0 Benign/Likely benign 4.34 71981 chr3 150916377 150916377 G A GPR171 Nonsynonymous SNV A266V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 71982 chr3 156254519 156254519 A G KCNAB1 Nonsynonymous SNV K386E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 71983 chr17 11881498 11881498 A G rs62621364 ZNF18 Nonsynonymous SNV F476L 0.01 0.01 0.02 7 12 4 0.018 6 0 0 0 0 11.93 71984 chr17 12656111 12656111 T C rs12453883 MYOCD Synonymous SNV N502N 0.011 0.003 0.014 1 13 1 0.003 4 0 0 0 0 0.003 71985 chr15 65411746 65411746 G A rs200982108 PDCD7 Synonymous SNV A434A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.1 71986 chr17 12664170 12664170 C T rs12449924 LOC100128006 0 0 0.014 0 0 0 0 4 0 0 0 0 6.306 71987 chr4 110236471 110236471 A G rs144253211 COL25A1-DT 0.015 0.018 0 1 18 7 0.003 0 0 0 0 0 2.556 71988 chr3 153839806 153839806 T A rs139430962 ARHGEF26 Nonsynonymous SNV F9I 0.024 0.029 0.007 15 28 11 0.038 2 0 2 0 2 23 71989 chr17 1373742 1373742 G T rs140604493 MYO1C Nonsynonymous SNV Q785K 0.011 0.005 0.007 4 13 2 0.01 2 0 0 0 0 Likely benign 10.31 71990 chr17 1383858 1383858 G C rs201395025 MYO1C Nonsynonymous SNV A290G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 71991 chr4 110788823 110788823 G C LRIT3 Nonsynonymous SNV D206H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 31 71992 chr3 15477988 15477988 G A rs201575159 EAF1 Synonymous SNV P222P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 71993 chr3 44286015 44286015 C G rs17646517 TOPAZ1 Nonsynonymous SNV P673A 0.004 0.008 0.014 7 5 3 0.018 4 0 0 0 0 23.6 71994 chr4 13582776 13582776 A G BOD1L1 Nonsynonymous SNV V2883A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.1 71995 chr3 182988370 182988370 G A rs765432993 B3GNT5 Nonsynonymous SNV G262S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.175 71996 chr3 44685412 44685412 T C rs777331961 ZNF197, ZNF660-ZNF197 Synonymous SNV Y717Y 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.005 71997 chr3 16399475 16399475 A G rs145793354 RFTN1 Synonymous SNV Y370Y 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 0.42 71998 chr3 155632314 155632314 A G rs61750369 GMPS Synonymous SNV T331T 0.037 0.034 0.051 14 44 13 0.036 15 0 0 1 1 7.722 71999 chr3 156697028 156697028 C T rs114940870 LEKR1 Nonsynonymous SNV A264V 0.027 0.021 0.027 7 32 8 0.018 8 0 0 0 0 19.16 72000 chr17 15983795 15983795 T C NCOR1 Synonymous SNV E1125E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.657 72001 chr3 15719049 15719049 T C rs34208188 ANKRD28 Nonsynonymous SNV S726G 0.028 0.036 0.034 6 33 14 0.015 10 1 1 0 0 22.2 72002 chr4 113571633 113571633 G C rs368177589 LARP7 Nonsynonymous SNV E450D 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.285 72003 chr17 16344891 16344891 T - rs71831095 SNHG29 0 0 0.065 0 0 0 0 19 0 0 0 0 72004 chr17 1636945 1636945 C T rs146469235 WDR81 Synonymous SNV T335T 0.033 0.029 0.037 7 39 11 0.018 11 0 0 0 0 7.058 72005 chr17 16455324 16455324 T C ZNF287 Nonsynonymous SNV K663R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 72006 chr4 147560457 147560457 - GGCGGCGGCGGC POU4F2 G68_R69insGGGG 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 72007 chr3 169548373 169548373 C T rs138419448 LRRIQ4 Nonsynonymous SNV H430Y 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 27.5 72008 chr3 119102053 119102053 C T rs751793 ARHGAP31 Nonsynonymous SNV P221L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 23.7 72009 chr4 147830297 147830297 A G rs35123039 TTC29 Nonsynonymous SNV L94P 0.02 0.026 0.017 8 23 10 0.021 5 0 0 0 0 24.1 72010 chr3 160156150 160156150 G A rs147827891 TRIM59 Synonymous SNV P274P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.219 72011 chr3 119204198 119204198 A G rs142565532 POGLUT1 Nonsynonymous SNV K201R 0.008 0 0 5 9 0 0.013 0 1 0 0 0 Likely benign 17.17 72012 chr4 119203221 119203221 C T rs17594503 PRSS12 Nonsynonymous SNV R833Q 0.066 0.052 0.058 23 78 20 0.059 17 1 0 0 0 Likely benign 32 72013 chr15 72172798 72172798 G A rs74475742 MYO9A Nonsynonymous SNV R1834C 0.048 0.034 0.041 26 56 13 0.067 12 1 0 0 1 34 72014 chr15 72461330 72461330 A G rs375451737 GRAMD2A Nonsynonymous SNV W48R 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 16.29 72015 chr3 171404499 171404499 G T rs780340887 PLD1 Nonsynonymous SNV Q615K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.44 72016 chr3 186570816 186570816 T C rs17366653 ADIPOQ-AS1 0.029 0.052 0.014 16 34 20 0.041 4 1 1 0 0 6.174 72017 chr17 17721181 17721181 G A rs147246061 SREBF1 Synonymous SNV D387D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.072 72018 chr3 186959295 186959295 C T rs28945068 MASP1 Nonsynonymous SNV G426E 0.014 0.005 0.01 6 17 2 0.015 3 1 0 0 0 Benign 2.997 72019 chr3 131188574 131188574 A G rs2291381 MRPL3 Nonsynonymous SNV M261T 0.013 0.018 0.003 8 15 7 0.021 1 0 0 0 0 Benign 11.94 72020 chr3 169999670 169999670 A G rs55683301 PRKCI Synonymous SNV R327R 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 12.6 72021 chr3 180334458 180334458 C T rs61733583 CCDC39 Nonsynonymous SNV R811H 0.022 0.023 0.01 4 26 9 0.01 3 1 0 0 0 Benign/Likely benign 31 72022 chr3 121554147 121554147 G A rs113829843 EAF2 Synonymous SNV A5A 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 12.62 72023 chr4 126411576 126411576 G A rs75469760 FAT4 Synonymous SNV K4534K 0.011 0.021 0.014 5 13 8 0.013 4 0 0 0 0 Benign 5.409 72024 chr3 132193853 132193853 C A rs149121829 DNAJC13 Nonsynonymous SNV S790Y 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 Likely benign 24.5 72025 chr3 171320952 171320952 G C rs544189603 PLD1 Nonsynonymous SNV F1009L 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 72026 chr3 132244562 132244562 G T rs138693725 DNAJC13 Nonsynonymous SNV A2057S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 19.38 72027 chr3 48637143 48637143 C T rs139999010 UQCRC1 Nonsynonymous SNV E435K 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 23.4 72028 chr3 171379898 171379898 G A rs145015377 PLD1 Synonymous SNV A726A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.2 72029 chr3 182853554 182853554 G A rs35597162 LAMP3 Synonymous SNV T356T 0.039 0.055 0.031 19 46 21 0.049 9 0 0 0 0 9.451 72030 chr15 75664472 75664472 G A rs142724257 SIN3A Nonsynonymous SNV R1224C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 72031 chr4 156721182 156721182 G A rs113558298 GUCY1B1 Synonymous SNV Q309Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 8.605 72032 chr15 76152246 76152246 T C rs376429875 UBE2Q2 Nonsynonymous SNV C88R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 72033 chr15 78461324 78461324 C T rs116374996 IDH3A Nonsynonymous SNV R360C 0.008 0.013 0.003 2 9 5 0.005 1 0 0 0 0 28.9 72034 chr4 138451397 138451397 G A rs74512322 PCDH18 Nonsynonymous SNV L616F 0.025 0.021 0.027 6 29 8 0.015 8 1 0 0 0 22.3 72035 chr4 138451872 138451872 A G rs77510460 PCDH18 Synonymous SNV D457D 0.025 0.021 0.027 6 29 8 0.015 8 1 0 0 0 0.081 72036 chr3 50379343 50379343 C T rs148328402 ZMYND10 Nonsynonymous SNV R335Q 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 23 72037 chr3 134085126 134085126 T G rs202200117 AMOTL2 Nonsynonymous SNV R453S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.7 72038 chr3 50413252 50413252 C T rs41305892 CACNA2D2 Synonymous SNV K611K 0.005 0.005 0.017 2 6 2 0.005 5 0 0 0 0 Benign/Likely benign 17.35 72039 chr3 184105204 184105204 C T rs763703209 CHRD Nonsynonymous SNV T797M 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 33 72040 chr3 51429164 51429164 G A rs782618481 RBM15B Nonsynonymous SNV A112T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.171 72041 chr3 18436063 18436063 G A rs148337599 SATB1 Nonsynonymous SNV S294L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 72042 chr15 79760530 79760530 C T rs140151474 MINAR1 Nonsynonymous SNV T852M 0.009 0.005 0.01 2 10 2 0.005 3 0 0 0 0 26 72043 chr3 124646693 124646693 G A rs148289912 MUC13 Nonsynonymous SNV T66I 0.009 0.013 0.014 8 11 5 0.021 4 0 0 0 0 0.129 72044 chr4 141320130 141320130 G A rs115238672 CLGN Synonymous SNV L253L 0.033 0.029 0.01 6 39 11 0.015 3 0 0 0 0 2.949 72045 chr3 51990646 51990646 C A rs73082754 GPR62 Synonymous SNV L326L 0.014 0.021 0.017 6 17 8 0.015 5 0 0 0 0 11.19 72046 chr3 52012320 52012320 G A rs41292350 ABHD14A, ABHD14A-ACY1 Nonsynonymous SNV R61H 0.015 0.021 0.017 6 18 8 0.015 5 0 0 0 0 22.6 72047 chr4 141483471 141483471 T A rs2270565 UCP1 Nonsynonymous SNV M229L 0.102 0.094 0.092 33 120 36 0.085 27 4 1 0 1 10.28 72048 chr4 141489068 141489068 C T rs45539933 UCP1 Nonsynonymous SNV A64T 0.076 0.06 0.085 21 89 23 0.054 25 3 0 0 0 14.28 72049 chr4 147560458 147560463 GGCGGC - rs778938652 POU4F2 G67_G68del 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 72050 chr4 147560463 147560463 - GGC POU4F2 G68_R69insG 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 72051 chr4 149356442 149356442 T C rs924318408 NR3C2 Nonsynonymous SNV H524R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 72052 chr3 137813814 137813814 T C DZIP1L Nonsynonymous SNV K200E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.11 72053 chr3 126194332 126194332 G A rs142692233 ZXDC Nonsynonymous SNV A126V 0.006 0.01 0.017 5 7 4 0.013 5 0 0 1 1 15.16 72054 chr4 15067871 15067871 A G rs772789806 CPEB2 Nonsynonymous SNV N956S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 72055 chr3 126222856 126222856 C T rs139894266 UROC1 Nonsynonymous SNV R295H 0.009 0.005 0.007 6 10 2 0.015 2 0 0 0 0 22.2 72056 chr3 19554662 19554662 G A rs141916436 KCNH8 Synonymous SNV T760T 0.014 0.018 0.01 7 16 7 0.018 3 0 0 0 0 14.09 72057 chr4 151656435 151656435 T C rs756973832 LRBA Nonsynonymous SNV D1910G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 72058 chr3 184922294 184922294 C T rs2302819 EHHADH Nonsynonymous SNV A178T 0.012 0.005 0.01 7 14 2 0.018 3 0 0 0 1 33 72059 chr3 184947298 184947298 G T rs147050936 EHHADH Nonsynonymous SNV L33I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.164 72060 chr15 85383215 85383215 C T rs761813254 ALPK3 Synonymous SNV P235P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.408 72061 chr3 196730759 196730759 G A rs41292039 MELTF-AS1 0.009 0.013 0.003 6 10 5 0.015 1 0 0 0 0 8.821 72062 chr17 25756890 25756890 G A rs4795660 TBC1D3P5 0 0 0.252 0 0 0 0 74 0 0 31 0 4.425 72063 chr3 190994629 190994629 T C rs149817500 UTS2B Synonymous SNV L69L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.559 72064 chr17 25758401 25758401 C T rs12603363 TBC1D3P5 0 0 0.126 0 0 0 0 37 0 0 18 0 1.303 72065 chr3 191087740 191087740 A T rs35380043 CCDC50 Nonsynonymous SNV L121F 0.038 0.044 0.051 14 45 17 0.036 15 0 0 0 1 Benign 22.8 72066 chr3 191107358 191107358 C T rs147604673 CCDC50 Nonsynonymous SNV R290W 0.015 0.016 0.007 2 18 6 0.005 2 0 0 0 0 Benign 32 72067 chr3 14206341 14206341 G C rs184879571 XPC Nonsynonymous SNV S98C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 72068 chr17 26109102 26109102 G A rs3730017 NOS2 Nonsynonymous SNV R221W 0.008 0.01 0.017 3 9 4 0.008 5 0 0 0 0 27.7 72069 chr3 142178118 142178118 G C rs33972295 ATR Nonsynonymous SNV P2370A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 17.1 72070 chr17 26115949 26115949 T C rs16966563 NOS2 Synonymous SNV P68P 0.008 0.01 0.017 3 9 4 0.008 5 0 0 0 0 4.432 72071 chr3 142231119 142231119 T C rs55894265 ATR Nonsynonymous SNV N1548S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.006 72072 chr3 129290087 129290087 G A rs2285366 PLXND1 Synonymous SNV N1132N 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 1.142 72073 chr3 142522855 142522855 T A rs9875489 TRPC1 Synonymous SNV I564I 0.004 0 0.007 0 5 0 0 2 0 0 0 0 16.37 72074 chr3 14724345 14724345 G A rs17040154 C3orf20 Nonsynonymous SNV G42D 0.049 0.031 0.027 19 57 12 0.049 8 2 0 0 0 28.5 72075 chr4 15835844 15835844 A C rs1800051 CD38 Synonymous SNV I168I 0.043 0.044 0.054 16 50 17 0.041 16 1 0 0 1 0.002 72076 chr17 27909733 27909733 C T rs769335009 GIT1 Nonsynonymous SNV A130T 0 0 0.007 0 0 0 0 2 0 0 0 0 23 72077 chr3 193272453 193272454 GT - ATP13A4-AS1 0.003 0 0 4 4 0 0.01 0 0 0 0 0 72078 chr3 57322041 57322041 C G ASB14 Synonymous SNV T119T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.58 72079 chr3 57322060 57322060 G C ASB14 Nonsynonymous SNV T113S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.58 72080 chr17 28652046 28652046 C A rs141569425 TMIGD1 Nonsynonymous SNV C143F 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 72081 chr4 159836342 159836342 T A rs200938327 C4orf45 Stop gain K176X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 72082 chr15 89414749 89414749 C T rs35446117 ACAN Synonymous SNV P2323P 0.021 0.008 0.024 2 25 3 0.005 7 0 0 0 0 9.923 72083 chr17 29170962 29170962 C T rs137960256 ATAD5 Nonsynonymous SNV T758I 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 23.1 72084 chr4 16002200 16002200 G A rs113895168 PROM1 Synonymous SNV I490I 0.011 0.01 0.01 2 13 4 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.52 72085 chr3 194371881 194371881 G C rs141217932 LSG1 Nonsynonymous SNV S413C 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 31 72086 chr3 38047680 38047680 G A rs11707277 VILL Synonymous SNV P511P 0.155 0.141 0.143 61 182 54 0.156 42 17 4 4 1 6.976 72087 chr3 38287689 38287689 G A rs113919536 OXSR1 Nonsynonymous SNV A412T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.106 72088 chr3 195028045 195028045 G A rs763853925 ACAP2 Nonsynonymous SNV P306L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 72089 chr3 151458626 151458626 C G rs34754709 AADACL2 Nonsynonymous SNV H111D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 25.5 72090 chr17 32953335 32953335 A C rs147874855 TMEM132E Nonsynonymous SNV E86A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 72091 chr3 196735808 196735808 G A rs41284045 MELTF Synonymous SNV C518C 0.037 0.016 0.024 10 44 6 0.026 7 3 0 0 0 14.22 72092 chr3 196736575 196736575 A G rs41284047 MELTF Nonsynonymous SNV F480S 0.037 0.016 0.024 10 44 6 0.026 7 3 0 0 0 19.19 72093 chr3 15756165 15756165 - G rs780111316 ANKRD28 0.001 0 0 1 1 0 0.003 0 0 0 0 0 72094 chr3 195959323 195959323 A G rs140725914 SLC51A Nonsynonymous SNV I272V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 24.5 72095 chr3 29781327 29781327 A G rs143981652 RBMS3 Synonymous SNV L171L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 2.83 72096 chr3 137484100 137484100 C T rs144927048 SOX14 Synonymous SNV T158T 0.025 0.042 0.024 10 29 16 0.026 7 0 0 0 0 5.188 72097 chr3 39544106 39544135 AGCCACGGTCCCCTCCGAGGTCTGAGCGTC - MOBP S129_R138del 0.001 0 0 0 1 0 0 0 0 0 0 0 72098 chr17 33806644 33806644 C T rs188942722 SLFN12L Nonsynonymous SNV M195I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.01 72099 chr3 137781662 137781662 C T rs200902457 DZIP1L Stop gain W767X 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 39 72100 chr3 165547973 165547973 C G rs16849700 BCHE Nonsynonymous SNV E283D 0.012 0.01 0.007 6 14 4 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 72101 chr3 41759288 41759288 T C rs61745795 ULK4 Nonsynonymous SNV N494S 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 0.588 72102 chr3 196771513 196771513 G A rs34492126 DLG1 Nonsynonymous SNV P783L 0.032 0.049 0.024 9 38 19 0.023 7 1 0 0 0 24.5 72103 chr3 196771554 196771554 T C rs35370245 DLG1 Synonymous SNV K769K 0.032 0.049 0.024 9 38 19 0.023 7 1 0 0 0 0.011 72104 chr3 197408001 197408001 C T rs141198920 RUBCN Nonsynonymous SNV R810Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 72105 chr3 137880854 137880854 G A rs142272005 DBR1 Synonymous SNV D504D 0.009 0.031 0.003 6 10 12 0.015 1 0 0 0 0 4.384 72106 chr3 168838920 168838920 C T rs956141332 MECOM Synonymous SNV E164E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 72107 chr17 34324802 34324802 A G rs762671946 CCL15-CCL14 0 0 0.003 0 0 0 0 1 0 0 0 0 1.172 72108 chr17 34328647 34328653 AGGGCAG - rs201274146 CCL15-CCL14 0 0 0.452 0 0 0 0 133 0 0 66 0 72109 chr3 32804323 32804323 C T rs374597639 CNOT10 Nonsynonymous SNV S576F 0.008 0.005 0 0 9 2 0 0 0 0 0 0 33 72110 chr3 98188580 98188580 C T rs138585571 OR5K1 Nonsynonymous SNV R54W 0.007 0.021 0.017 6 8 8 0.015 5 0 0 0 0 22.4 72111 chr4 186111306 186111306 G A rs145238765 CFAP97 Nonsynonymous SNV L349F 0.02 0.016 0.01 10 24 6 0.026 3 0 0 0 0 26.3 72112 chr4 183600897 183600897 G A rs200560090 TENM3 Nonsynonymous SNV G469R 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 22.9 72113 chr3 43074492 43074492 C T rs200429386 GASK1A Nonsynonymous SNV T246M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.4 72114 chr4 3076612 3076612 - CAGCAGCAGCAGCAG HTT Q38_P39insQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 72115 chr3 9876867 9876867 C T rs756601012 TTLL3 Synonymous SNV V814V 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 10.8 72116 chr17 35297769 35297769 A G LHX1 Nonsynonymous SNV Y118C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 72117 chr3 33552180 33552180 C G CLASP2 Nonsynonymous SNV C1184S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.2 72118 chr15 100657065 100657065 G A rs34558152 ADAMTS17 Synonymous SNV A625A 0.03 0.036 0.014 18 35 14 0.046 4 0 2 0 1 Benign 6.378 72119 chr4 187005836 187005836 C G rs759190057 TLR3 Nonsynonymous SNV Q842E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 11.31 72120 chr4 37636742 37636742 G A rs374072265 RELL1 Synonymous SNV P149P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 72121 chr3 30713737 30713737 C T rs113194608 TGFBR2 Synonymous SNV L354L 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Benign/Likely benign 13.56 72122 chr17 36865756 36865756 G A rs749055632 MLLT6 Synonymous SNV L160L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 72123 chr17 36906480 36906480 G A rs228271 LOC100287808 0 0 0.19 0 0 0 0 56 0 0 6 0 7.461 72124 chr3 148757880 148757880 G A rs61750364 HLTF Nonsynonymous SNV P813S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.8 72125 chr3 179322406 179322406 C T rs544285073 MRPL47 Nonsynonymous SNV A3T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 26.1 72126 chr17 3721693 3721693 A G NCBP3 Nonsynonymous SNV S392P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 72127 chr3 38565619 38565619 G A rs772599288 EXOG Synonymous SNV R241R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.363 72128 chr3 45965190 45965190 G A rs41289612 FYCO1 Nonsynonymous SNV T1440I 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign/Likely benign 15.23 72129 chr4 20618573 20618573 C T rs752560535 SLIT2 Synonymous SNV A1292A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 72130 chr4 41748217 41748217 G A rs17885216 PHOX2B Synonymous SNV S184S 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 Benign 6.38 72131 chr16 460352 460388 TGAGAAGTTCTTCCGGGTGGGTGCCTCGTGCGCTCTG - rs758046162 DECR2 Stop gain Y149* 0.003 0 0 3 4 0 0.008 0 0 0 0 0 72132 chr16 476430 476430 C G rs181591879 RAB11FIP3 Nonsynonymous SNV P142A 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 3.301 72133 chr16 815535 815535 C G MSLN Nonsynonymous SNV S238W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 72134 chr17 38975252 38975266 CCGCCGCCGGAGCTT - rs570853437 KRT10 S508_G512del 0.009 0.003 0.014 7 11 1 0.018 4 1 0 0 0 72135 chr3 47049615 47049615 G A rs144664865 NBEAL2 Nonsynonymous SNV G2519E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.802 72136 chr17 39020028 39020028 T C rs200497999 KRT12 Nonsynonymous SNV N299S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 72137 chr3 38941466 38941466 A T rs6809179 SCN11A Synonymous SNV I647I 0.006 0.003 0.014 7 7 1 0.018 4 0 0 0 0 Benign 0.433 72138 chr16 1129023 1129023 C T rs4988484 SSTR5 Nonsynonymous SNV A52V 0.034 0.031 0.051 15 40 12 0.038 15 1 0 1 0 0.003 72139 chr3 187387022 187387022 T G rs33934967 SST Nonsynonymous SNV N61T 0.012 0.005 0.003 3 14 2 0.008 1 0 0 0 0 Benign 8.819 72140 chr16 1129193 1129193 C T rs4988487 SSTR5 Nonsynonymous SNV P109S 0.037 0.029 0.051 15 43 11 0.038 15 1 0 1 0 0.015 72141 chr16 1129384 1129384 G A rs35162372 SSTR5 Synonymous SNV L172L 0.037 0.031 0.048 15 43 12 0.038 14 1 0 1 0 0.012 72142 chr3 156413682 156413682 A C rs143409745 TIPARP Nonsynonymous SNV N372T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.763 72143 chr4 27024568 27024568 A G STIM2 Nonsynonymous SNV S731G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 72144 chr3 47452583 47452583 C T rs149563514 PTPN23 Nonsynonymous SNV P973S 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 0.003 72145 chr3 156867946 156867946 T C rs549965096 CCNL1 Nonsynonymous SNV T263A 0.003 0.005 0 6 3 2 0.015 0 0 0 0 0 19.17 72146 chr3 189713157 189713157 C A rs117688924 P3H2 Nonsynonymous SNV Q4H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 27.2 72147 chr3 158254982 158254982 A C rs769950239 RSRC1 Nonsynonymous SNV K194Q 0.003 0.005 0 6 3 2 0.015 0 0 0 0 0 26.3 72148 chr4 2834080 2834080 C T rs148761331 SH3BP2 Nonsynonymous SNV R477W 0.01 0.005 0.007 7 12 2 0.018 2 0 0 0 0 Benign 32 72149 chr4 110737403 110737403 A T rs147082071 GAR1 Nonsynonymous SNV H28L 0.005 0.008 0.01 1 6 3 0.003 3 0 0 0 0 23.9 72150 chr3 192516321 192516321 C T rs61729336 MB21D2 Nonsynonymous SNV G444R 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 19.05 72151 chr3 42917218 42917218 A G rs778382194 CYP8B1 Nonsynonymous SNV W31R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.026 72152 chr4 3132038 3132038 A G rs151106561 HTT Nonsynonymous SNV Q625R 0.011 0.016 0.007 5 13 6 0.013 2 1 0 0 0 19.35 72153 chr3 40503520 40503520 - CTG rs369485042 RPL14 A159_K160insA 0.02 0.021 0.017 5 24 8 0.013 5 0 0 1 0 72154 chr3 48610625 48610625 G T rs61729223 COL7A1 Synonymous SNV P2232P 0.005 0 0.02 1 6 0 0.003 6 0 0 0 0 Conflicting interpretations of pathogenicity 6.376 72155 chr4 3240667 3240667 C T rs2229987 HTT Synonymous SNV F3059F 0.011 0.016 0.007 5 13 6 0.013 2 1 0 0 0 14.25 72156 chr4 3417811 3417811 C T rs147243770 RGS12 Nonsynonymous SNV A149V 0.005 0.008 0.01 0 6 3 0 3 0 0 0 0 22.1 72157 chr4 57314905 57314905 A C rs11549976 PAICS Nonsynonymous SNV K201N 0.026 0.042 0.014 13 31 16 0.033 4 2 1 0 0 22.3 72158 chr4 57333859 57333859 C T rs111673705 SRP72 Nonsynonymous SNV R20W 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Likely benign 35 72159 chr17 39464591 39464591 G A rs184447437 KRTAP16-1 Synonymous SNV V305V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.33 72160 chr4 36230843 36230843 G A rs35822395 ARAP2 Nonsynonymous SNV P89L 0.013 0.01 0.007 4 15 4 0.01 2 0 0 0 0 8.28 72161 chr16 1569932 1569932 C T rs61745103 IFT140 Synonymous SNV A1330A 0.011 0.013 0.014 5 13 5 0.013 4 1 0 0 0 Benign 8.835 72162 chr16 1576743 1576743 G A rs34668993 IFT140 Synonymous SNV D818D 0.013 0.013 0.014 5 15 5 0.013 4 1 0 0 0 Benign/Likely benign 12.04 72163 chr4 120213755 120213755 G C rs200994396 USP53 Nonsynonymous SNV G820R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.729 72164 chr4 366612 366612 G A rs138386005 ZNF141 Nonsynonymous SNV G53D 0.015 0.013 0.003 3 18 5 0.008 1 0 0 0 0 Benign 22.5 72165 chr4 57797100 57797100 G T rs2227902 REST Nonsynonymous SNV E692D 0.04 0.042 0.027 24 47 16 0.062 8 0 0 0 0 2.977 72166 chr4 37633026 37633026 C T rs115231391 RELL1 Nonsynonymous SNV R267H 0.026 0.021 0.003 9 30 8 0.023 1 0 1 0 0 22.4 72167 chr4 37592408 37592408 A G rs142404333 C4orf19 Nonsynonymous SNV E244G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 15.21 72168 chr4 122250514 122250514 A G rs10015833 QRFPR Synonymous SNV F417F 0.041 0.052 0.041 10 48 20 0.026 12 2 0 0 0 4.393 72169 chr4 57887150 57887150 C T rs2271806 POLR2B Synonymous SNV R728R 0.044 0.044 0.027 22 52 17 0.056 8 1 0 0 0 10.66 72170 chr16 1828011 1828011 T C SPSB3 Synonymous SNV K177K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.416 72171 chr3 49760477 49760477 G A rs11547261 GMPPB Synonymous SNV D110D 0.003 0 0.017 1 4 0 0.003 5 0 0 0 0 Benign 9.555 72172 chr16 1837768 1837768 T G NUBP2 Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 72173 chr4 122728731 122728731 A G rs749486388 EXOSC9 Nonsynonymous SNV I187V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.77 72174 chr3 49850590 49850590 C G rs753552244 UBA7 Synonymous SNV L124L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.272 72175 chr3 49869382 49869382 C A rs144992965 TRAIP Nonsynonymous SNV G335V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.517 72176 chr3 49877221 49877221 G A rs201373472 TRAIP Nonsynonymous SNV R290C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 72177 chr16 1867190 1867190 C T rs61729103 HAGH Stop gain W172X 0.008 0.01 0.017 5 9 4 0.013 5 1 0 0 0 7.489 72178 chr4 38800214 38800214 C G rs5743611 TLR1 Nonsynonymous SNV R80T 0.042 0.057 0.034 15 49 22 0.038 10 1 0 0 0 16.01 72179 chr4 6302830 6302830 C T rs71539646 WFS1 Synonymous SNV T436T 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Benign 6.026 72180 chr16 2028044 2028044 G A rs149719588 TBL3 Nonsynonymous SNV V682M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 72181 chr4 39308269 39308269 C T rs116805635 RFC1 Synonymous SNV A620A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 16.9 72182 chr3 196669591 196669591 G A rs375258730 NCBP2AS2 Nonsynonymous SNV V2M 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 8.927 72183 chr3 196674307 196674307 C T rs17855662 PIGZ Nonsynonymous SNV M487I 0.058 0.049 0.048 23 68 19 0.059 14 1 0 0 1 22.1 72184 chr17 39680674 39680674 G C KRT19 Nonsynonymous SNV A260G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 72185 chr4 679679 679679 A C rs377623410 SLC49A3 Nonsynonymous SNV V177G 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 15.8 72186 chr4 126411393 126411393 C T rs753117068 FAT4 Synonymous SNV L4473L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.486 72187 chr16 2231097 2231097 G A CASKIN1 Nonsynonymous SNV P758S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.985 72188 chr3 25638047 25638047 T C rs756454697 RARB Synonymous SNV P429P 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 0.045 72189 chr16 2283127 2283127 C T rs374953286 E4F1 Synonymous SNV H333H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.842 72190 chr3 4726848 4726848 G A rs199960483 ITPR1 Synonymous SNV A1205A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 2.826 72191 chr3 30032626 30032626 C G rs114278295 RBMS3 Synonymous SNV T393T 0.033 0.029 0.024 10 39 11 0.026 7 1 0 0 0 12.3 72192 chr4 42414945 42414945 G A rs78469447 ATP8A1 Synonymous SNV P1146P 0.02 0.031 0.017 10 24 12 0.026 5 0 0 0 0 7.091 72193 chr3 47882618 47882618 C A rs373512059 DHX30 Nonsynonymous SNV D206E 0.003 0 0 0 3 0 0 0 0 0 0 0 17.24 72194 chr3 46939575 46939575 C A rs143863124 PTH1R Synonymous SNV R146R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 21.4 72195 chr16 3273905 3273905 C T rs61731422 ZNF200 Nonsynonymous SNV R391Q 0.036 0.026 0.031 15 42 10 0.038 9 0 0 0 1 5.035 72196 chr4 47538484 47538484 A G rs745700006 ATP10D Nonsynonymous SNV K349R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.236 72197 chr17 41133082 41133082 C T rs772087875 RUNDC1 Synonymous SNV G163G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 72198 chr4 47973031 47973031 G A rs28475840 CNGA1 Synonymous SNV F29F 0.068 0.052 0.007 16 80 20 0.041 2 7 1 1 2 0.066 72199 chr3 47448093 47448093 C T rs747289546 PTPN23 Synonymous SNV A124A 0.003 0 0 4 4 0 0.01 0 0 0 0 0 12.97 72200 chr3 49314110 49314110 T C rs61749309 C3orf62 Nonsynonymous SNV R66G 0.02 0.023 0.02 5 23 9 0.013 6 1 0 1 0 10.34 72201 chr16 3367292 3367292 A G rs201438884 ZNF75A Nonsynonymous SNV K105R 0.006 0 0 5 7 0 0.013 0 0 0 0 0 0.016 72202 chr3 47460985 47460985 C G rs773156877 SCAP Nonsynonymous SNV Q336H 0.003 0 0 4 4 0 0.01 0 0 0 0 0 11.16 72203 chr3 47467597 47467597 C T rs149082564 SCAP Nonsynonymous SNV R12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22 72204 chr4 76891472 76891472 A G rs200531690 SDAD1 Synonymous SNV H254H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.35 72205 chr3 57312685 57312685 T C ASB14 Nonsynonymous SNV Q99R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 72206 chr3 49940078 49940078 C T rs2230593 MST1R Nonsynonymous SNV R322Q 0.038 0.042 0.075 28 45 16 0.072 22 1 0 2 2 5.912 72207 chr17 41879147 41879147 A C MPP3 Synonymous SNV G585G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.288 72208 chr16 4016844 4016844 G A rs143722912 ADCY9 Synonymous SNV R998R 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign 6.471 72209 chr3 38892069 38892069 C T rs78953918 SCN11A Synonymous SNV T1410T 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 Benign 16.64 72210 chr17 42015695 42015695 C T rs117007812 LINC01976 0 0 0.027 0 0 0 0 8 0 0 0 0 7.548 72211 chr4 77274305 77274305 C T rs200012767 CCDC158 Nonsynonymous SNV V806I 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 23.4 72212 chr16 4432636 4432636 C T rs773902148 VASN Synonymous SNV L586L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.931 72213 chr4 77661429 77661429 A G rs561826700 SHROOM3 Synonymous SNV A701A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.602 72214 chr3 66431943 66431943 C T rs13094825 LRIG1 Synonymous SNV A910A 0.03 0.029 0.044 7 35 11 0.018 13 0 0 1 0 14 72215 chr16 4747052 4747052 C T rs138220870 ANKS3 Nonsynonymous SNV G477R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 72216 chr4 57425670 57425670 C T rs115337450 THEGL Nonsynonymous SNV H236Y 0.034 0.031 0.044 10 40 12 0.026 13 1 0 0 0 7.017 72217 chr17 42382404 42382404 C T rs11651393 RUNDC3A-AS1 0 0 0.109 0 0 0 0 32 0 0 11 0 5.396 72218 chr4 154276856 154276856 A G rs10471075 MND1 Synonymous SNV K40K 0.047 0.036 0.034 16 55 14 0.041 10 3 0 0 0 7.392 72219 chr4 78806415 78806415 C T rs74550505 MRPL1 Synonymous SNV N136N 0.035 0.039 0.048 10 41 15 0.026 14 0 1 0 0 13.35 72220 chr16 4780109 4780109 C G rs140964348 ANKS3 Synonymous SNV L14L 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Benign 10.43 72221 chr17 42477385 42477385 T C rs61744303 GPATCH8 Nonsynonymous SNV H609R 0.017 0.026 0.024 7 20 10 0.018 7 1 0 0 0 Benign 10.79 72222 chr3 42448339 42448339 G A rs752462879 LYZL4 Synonymous SNV S97S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.212 72223 chr3 42560780 42560780 T C VIPR1 Synonymous SNV L37L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.486 72224 chr3 42906216 42906216 C T rs2229593 ACKR2 Synonymous SNV Y74Y 0.012 0.021 0.024 4 14 8 0.01 7 0 0 0 0 0.68 72225 chr17 43973498 43973498 T G rs4792891 MAPT-IT1 0 0 0.078 0 0 0 0 23 0 0 4 0 10.24 72226 chr4 57829669 57829669 G A rs61747375 NOA1 Nonsynonymous SNV P682S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 72227 chr17 4462895 4462895 C T rs142207873 GGT6 Nonsynonymous SNV G101S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 72228 chr3 52729465 52729465 G A rs201836909 GLT8D1 Synonymous SNV L262L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.828 72229 chr4 8271775 8271775 C G rs140526473 HTRA3 Nonsynonymous SNV A27G 0.017 0.029 0.014 5 20 11 0.013 4 0 1 1 0 10.63 72230 chr17 4520137 4520137 C T rs143044562 LINC01996 0 0 0.007 0 0 0 0 2 0 0 0 0 7.433 72231 chr4 155719189 155719189 T G rs79167802 RBM46 Nonsynonymous SNV I126M 0.02 0.026 0.01 1 24 10 0.003 3 0 0 0 0 23.1 72232 chr4 62812764 62812764 C T rs201709145 ADGRL3 Nonsynonymous SNV T765M 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23.3 72233 chr4 155720349 155720349 C A rs12651031 RBM46 Synonymous SNV G345G 0.038 0.055 0.037 13 45 21 0.033 11 1 1 0 1 10.15 72234 chr16 11000940 11000940 G A rs144646271 CIITA Nonsynonymous SNV G531S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 24.7 72235 chr4 6380297 6380297 A C PPP2R2C Nonsynonymous SNV S43R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.24 72236 chr3 44905782 44905782 A G rs137995657 TMEM42 Nonsynonymous SNV M96V 0.003 0 0 0 4 0 0 0 0 0 0 0 22.6 72237 chr4 159514617 159514617 C T RXFP1 Synonymous SNV S84S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.25 72238 chr4 85600145 85600145 G A rs756965723 WDFY3 Synonymous SNV A3358A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.79 72239 chr17 46110313 46110315 CTT - rs10563438 MIR10226 0 0 0.095 0 0 0 0 28 0 0 2 0 72240 chr16 11785747 11785747 G C rs113940175 TXNDC11 Nonsynonymous SNV H219Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 15.34 72241 chr4 860796 860796 C T rs112225848 GAK Synonymous SNV P861P 0.046 0.052 0.041 19 54 20 0.049 12 0 0 0 0 18.28 72242 chr3 196735687 196735687 C T rs17129219 MELTF Nonsynonymous SNV A559T 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 34 72243 chr4 6865521 6865521 C T rs116439703 KIAA0232 Nonsynonymous SNV P1138S 0.035 0.031 0.017 10 41 12 0.026 5 0 0 0 0 17.5 72244 chr16 14758851 14758851 T C rs745636640 BFAR Synonymous SNV F236F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.015 72245 chr4 169201502 169201502 A G rs79108984 DDX60 Synonymous SNV H654H 0.003 0.01 0.007 2 4 4 0.005 2 0 0 0 0 0.017 72246 chr3 58110105 58110105 G A rs146851485 FLNB Synonymous SNV P1257P 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 Benign/Likely benign 11.03 72247 chr17 47293906 47293906 G A rs2233369 ABI3 Nonsynonymous SNV R44Q 0.047 0.026 0.031 12 55 10 0.031 9 2 0 0 0 24.2 72248 chr3 25833228 25833228 T C rs17017016 OXSM Synonymous SNV C239C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.019 72249 chr17 4793052 4793052 C T rs2277681 MINK1 Synonymous SNV R447R 0.032 0.039 0.017 19 37 15 0.049 5 4 2 0 2 14.26 72250 chr4 169433419 169433419 G A rs146018183 PALLD Nonsynonymous SNV R255H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 10.31 72251 chr16 16272711 16272711 C T rs72653792 ABCC6 Nonsynonymous SNV V787I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.4 72252 chr17 48047114 48047114 A G rs138634383 DLX4 Synonymous SNV A94A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 11.22 72253 chr17 48248998 48248998 C T rs36107109 HILS1 0 0 0.248 0 0 0 0 73 0 0 11 0 2.255 72254 chr4 100443726 100443726 G A rs144766497 C4orf17 Nonsynonymous SNV G66D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 72255 chr4 90169155 90169155 C T rs202023170 GPRIN3 Nonsynonymous SNV E703K 0 0.003 0 0 0 1 0 0 0 0 0 0 31 72256 chr4 94750788 94750788 C A rs35182771 ATOH1 Nonsynonymous SNV H237Q 0.012 0.016 0.014 8 14 6 0.021 4 0 0 0 0 Benign 10.76 72257 chr3 46490456 46490456 G A rs61737000 LTF Synonymous SNV G326G 0.009 0.005 0.007 5 10 2 0.013 2 0 0 0 0 9.319 72258 chr3 58149084 58149084 C A rs200056120 FLNB-AS1 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.635 72259 chr4 175898744 175898746 TTA - rs200852076 ADAM29 L691del 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 72260 chr3 46937357 46937357 G A rs199875878 PTH1R Nonsynonymous SNV R104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.921 72261 chr3 46939578 46939578 C G PTH1R Nonsynonymous SNV R147G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 72262 chr3 33110383 33110383 G A rs35289681 GLB1 Nonsynonymous SNV R109W 0.018 0.01 0.027 6 21 4 0.015 8 0 0 0 0 Benign/Likely benign 25.9 72263 chr17 48614456 48614456 G A rs149893296 EPN3 Nonsynonymous SNV R180Q 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 22.3 72264 chr3 47037431 47037431 G T NBEAL2 Nonsynonymous SNV A647S 0.001 0 0 0 1 0 0 0 0 0 0 0 22 72265 chr3 33249370 33249370 A C rs61744674 SUSD5 Synonymous SNV A113A 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 0.593 72266 chr16 21262126 21262126 C T rs74405183 ANKS4B Synonymous SNV V413V 0.019 0.005 0.01 6 22 2 0.015 3 0 0 0 0 4.621 72267 chr3 64644355 64644355 C T rs73832368 ADAMTS9 Synonymous SNV E264E 0.003 0 0.007 0 3 0 0 2 1 0 0 0 9.818 72268 chr17 48761363 48761363 G A rs11568589 ABCC3 Synonymous SNV L1336L 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 11.87 72269 chr17 48764928 48764928 C T rs747825449 ABCC3 Stop gain R1438X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 72270 chr16 23494263 23494263 A C rs138430424 GGA2 Synonymous SNV T287T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.241 72271 chr4 17910840 17910840 T C rs61731457 LCORL Nonsynonymous SNV I187V 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 0.726 72272 chr17 50939638 50939638 G A rs74486177 LINC02089 0 0 0.075 0 0 0 0 22 0 0 6 0 2.509 72273 chr17 50939682 50939682 T C rs112587806 LINC02089 0 0 0.153 0 0 0 0 45 0 0 11 0 0.774 72274 chr17 50939720 50939720 G A rs77188275 LINC02089 0 0 0.122 0 0 0 0 36 0 0 4 0 1.247 72275 chr17 50939729 50939729 T C rs74351028 LINC02089 0 0 0.241 0 0 0 0 71 0 0 14 0 0.084 72276 chr17 50939747 50939747 - T rs148679625 LINC02089 0 0 0.252 0 0 0 0 74 0 0 14 0 72277 chr17 50939767 50939767 C G rs12944681 LINC02089 0 0 0.255 0 0 0 0 75 0 0 14 0 0.047 72278 chr17 50939812 50939812 A C rs12945789 LINC02089 0 0 0.265 0 0 0 0 78 0 0 14 0 0.121 72279 chr4 79343055 79343055 C T rs1872267 FRAS1 Nonsynonymous SNV R1527W 0.005 0.01 0.014 2 6 4 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 29.5 72280 chr3 38316149 38316149 C T rs771250391 SLC22A13 Synonymous SNV G179G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 6.572 72281 chr16 24788549 24788549 G A rs117821015 TNRC6A Synonymous SNV Q153Q 0.016 0.016 0.007 8 19 6 0.021 2 0 0 0 1 Benign 6.949 72282 chr3 48461220 48461220 G A rs768025873 PLXNB1 Synonymous SNV A825A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 72283 chr4 77662194 77662194 C T rs201527020 SHROOM3 Synonymous SNV S956S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 6.545 72284 chr3 81720076 81720076 G A rs13320194 GBE1 Synonymous SNV Y114Y 0.021 0.021 0.027 1 25 8 0.003 8 1 0 0 0 Benign 3.202 72285 chr3 38938441 38938441 G A rs202104116 SCN11A Synonymous SNV C766C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 13.04 72286 chr4 185683600 185683600 G A rs137881165 ACSL1 Synonymous SNV D499D 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 10.34 72287 chr3 87027831 87027831 T C rs757356982 VGLL3 Nonsynonymous SNV Y83C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 72288 chr3 48955666 48955666 T C ARIH2OS 0.001 0 0 0 1 0 0 0 0 0 0 0 3.481 72289 chr16 28515228 28515228 A C rs17855750 IL27 Nonsynonymous SNV S59A 0.059 0.044 0.041 25 69 17 0.064 12 2 0 1 0 6.768 72290 chr17 5462213 5462213 G A rs61753141 NLRP1 Synonymous SNV I601I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.609 72291 chr17 5462810 5462810 T A rs200250406 NLRP1 Synonymous SNV P402P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.756 72292 chr17 55123297 55123297 G A rs7214370 RNF126P1 0 0 0.102 0 0 0 0 30 0 0 3 0 6.315 72293 chr4 114288920 114288920 C A rs121912705 ANK2 Nonsynonymous SNV T835N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.49 72294 chr17 56234428 56234428 G A rs8081708 MSX2P1 0 0 0.085 0 0 0 0 25 0 0 6 0 9.622 72295 chr4 81122493 81122493 G A rs748762942 PRDM8 Nonsynonymous SNV R90Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 72296 chr3 9854630 9854630 A C rs187487302 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV K161Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 72297 chr4 8229850 8229850 C T rs141246804 SH3TC1 Nonsynonymous SNV T734M 0.013 0.01 0.007 3 15 4 0.008 2 0 0 0 0 0.009 72298 chr17 56429764 56429764 G A rs2632519 TSPOAP1-AS1 0 0 0.197 0 0 0 0 58 0 0 20 0 6.529 72299 chr3 49750037 49750037 C T RNF123 Synonymous SNV Y874Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 72300 chr4 187540095 187540095 A G rs183730071 FAT1 Nonsynonymous SNV F2549L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.8 72301 chr17 56572347 56572347 G A rs61744121 MTMR4 Synonymous SNV I1052I 0.026 0.013 0.054 12 31 5 0.031 16 0 0 1 1 7.519 72302 chr17 56620822 56620822 C T rs144774154 SEPTIN4 Synonymous SNV R242R 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 9.052 72303 chr16 30976129 30976129 T A rs117891062 SETD1A Nonsynonymous SNV S356T 0.041 0.031 0.02 17 48 12 0.044 6 0 0 0 0 9.311 72304 chr4 121738070 121738070 C T rs74320998 PRDM5 Synonymous SNV Q220Q 0.043 0.029 0.041 20 50 11 0.051 12 2 0 0 1 Benign/Likely benign 14.87 72305 chr17 57128625 57128625 A G rs74586224 TRIM37 Synonymous SNV L268L 0.026 0.018 0.058 11 31 7 0.028 17 0 0 1 0 Likely benign 10.44 72306 chr17 57141768 57141768 - A rs546873621 TRIM37 0.028 0.018 0.031 11 33 7 0.028 9 0 0 1 0 72307 chr3 50137353 50137353 A G rs111484530 RBM5-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.665 72308 chr5 118484637 118484637 A T rs149431940 DMXL1 Nonsynonymous SNV S1039C 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 24.1 72309 chr17 57756826 57756826 G A rs368514379 CLTC Synonymous SNV L959L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.54 72310 chr17 58147195 58147195 G A rs149685687 HEATR6 Synonymous SNV H272H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.24 72311 chr5 121786667 121786667 G C rs55712196 SNCAIP Nonsynonymous SNV E305Q 0.003 0.013 0.01 2 3 5 0.005 3 0 0 0 0 Benign/Likely benign 26 72312 chr16 31434692 31434692 G A rs146328410 ITGAD Nonsynonymous SNV R961Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 72313 chr3 51994306 51994306 T A rs150362720 PCBP4 Nonsynonymous SNV N96Y 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 19.06 72314 chr4 126320019 126320019 C T rs772614378 FAT4 Synonymous SNV N1752N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.88 72315 chr5 125928395 125928395 A G rs60720055 ALDH7A1 Synonymous SNV T91T 0.027 0.026 0.02 3 32 10 0.008 6 1 1 0 0 Benign/Likely benign 4.898 72316 chr5 125939409 125939409 C T rs3734173 PHAX Nonsynonymous SNV R82C 0.061 0.063 0.078 13 72 24 0.033 23 2 3 2 0 34 72317 chr4 87724973 87724973 G C PTPN13 Nonsynonymous SNV G2015A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 72318 chr5 126732420 126732420 C T rs113794264 MEGF10 Synonymous SNV C203C 0.011 0.016 0.017 6 13 6 0.015 5 0 0 0 0 Conflicting interpretations of pathogenicity 16.05 72319 chr4 128811079 128811079 C T rs781160325 PLK4 Synonymous SNV G474G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.78 72320 chr3 44492449 44492449 G A rs146411566 ZNF445 Nonsynonymous SNV P202S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 21.8 72321 chr17 62271183 62271183 C T rs755588776 TEX2 Nonsynonymous SNV E638K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 72322 chr3 52556432 52556432 C T rs762283662 STAB1 Synonymous SNV C2184C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.991 72323 chr17 63097115 63097115 G A rs2011214 LOC100507002 0 0 0.588 0 0 0 0 173 0 0 86 0 11.84 72324 chr17 63097399 63097399 A C rs920732 LOC100507002 0 0 0.048 0 0 0 0 14 0 0 7 0 6.461 72325 chr4 104030106 104030106 G A rs1037187636 CENPE Nonsynonymous SNV T2501I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 72326 chr4 3257507 3257507 A C rs199592772 MSANTD1 Nonsynonymous SNV K218Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.8 72327 chr16 50745872 50745872 C T rs5743276 NOD2 Nonsynonymous SNV R657W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 23.2 72328 chr16 53358489 53358489 T C rs113575646 CHD9 Synonymous SNV A2792A 0.02 0.01 0.01 3 23 4 0.008 3 1 0 0 0 0.07 72329 chr4 90743487 90743487 C T rs144758871 SNCA Synonymous SNV T72T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.45 72330 chr4 89601300 89601300 T C rs75022724 HERC3 Synonymous SNV F633F 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 4.719 72331 chr4 366713 366713 C T rs148856420 ZNF141 Nonsynonymous SNV R87C 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 Likely benign 26.5 72332 chr4 92007129 92007129 T C rs76504638 CCSER1 Nonsynonymous SNV V734A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 18.37 72333 chr4 90857591 90857591 T C MMRN1 Synonymous SNV L920L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.546 72334 chr4 94159599 94159599 T C rs80091080 GRID2 Synonymous SNV L306L 0.007 0.013 0.007 5 8 5 0.013 2 0 0 0 0 Benign 2.229 72335 chr3 52836764 52836764 G A rs749165416 ITIH3 Nonsynonymous SNV G551R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 72336 chr3 45518046 45518046 G C rs145135580 LARS2 Synonymous SNV S315S 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 Benign 10.59 72337 chr4 95220634 95220634 G C rs144419616 HPGDS Synonymous SNV L199L 0.013 0.021 0.02 8 15 8 0.021 6 0 0 0 0 Benign 2.371 72338 chr4 38022219 38022219 G A rs112261209 TBC1D1 Nonsynonymous SNV R327K 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 Benign 13.37 72339 chr4 95220672 95220672 C T rs76328980 HPGDS Nonsynonymous SNV V187I 0.014 0.023 0.024 9 17 9 0.023 7 0 0 0 0 Benign 14.27 72340 chr4 140058849 140058849 A T rs62623564 ELF2 Nonsynonymous SNV S3T 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 17.32 72341 chr4 95223349 95223349 A G rs34124298 HPGDS Nonsynonymous SNV M128T 0.014 0.021 0.02 8 17 8 0.021 6 0 0 0 0 Benign 23.1 72342 chr4 95229850 95229850 T C rs61752528 HPGDS Nonsynonymous SNV I91V 0.014 0.021 0.02 8 17 8 0.021 6 0 0 0 0 Benign 2 72343 chr4 95377643 95377643 C T rs537228449 PDLIM5 Synonymous SNV A115A 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 4.776 72344 chr3 53269087 53269087 T C rs17052920 TKT Nonsynonymous SNV I181V 0.003 0.01 0.02 0 4 4 0 6 0 0 0 0 Likely benign 22.9 72345 chr17 656304 656304 A C rs473250 DBIL5P 0 0 0.092 0 0 0 0 27 0 0 13 0 1.277 72346 chr17 6590860 6590860 C T SLC13A5 Synonymous SNV K478K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.14 72347 chr4 106863673 106863673 A G rs376080328 NPNT Nonsynonymous SNV I325V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 72348 chr3 46062922 46062922 G A rs78405233 XCR1 Nonsynonymous SNV S173L 0.011 0.013 0 5 13 5 0.013 0 0 0 0 0 0.012 72349 chr3 53852053 53852053 G C rs34336629 CHDH Synonymous SNV P512P 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 Likely benign 9.617 72350 chr17 66596790 66596790 C T rs75228334 FAM20A Synonymous SNV R6R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 15.14 72351 chr4 110758673 110758673 A G rs61738574 RRH Nonsynonymous SNV H211R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.19 72352 chr4 144616676 144616676 A G FREM3 Nonsynonymous SNV L1718P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 72353 chr4 109766400 109766400 T C rs755485561 COL25A1 Nonsynonymous SNV N481S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.52 72354 chr4 110791527 110791527 T C rs756573514 LRIT3 Nonsynonymous SNV I541T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 72355 chr16 57406544 57406544 C A rs761734507 CX3CL1 Nonsynonymous SNV L22M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 72356 chr5 102537298 102537298 C T rs17155147 PPIP5K2 Nonsynonymous SNV T1113M 0.039 0.039 0.048 16 46 15 0.041 14 3 1 1 0 17.73 72357 chr4 111542476 111542476 G C PITX2 Nonsynonymous SNV D85E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 72358 chr17 67212367 67212375 GCCATATAA - rs540034948 ABCA10 Y220_L222del 0 0 0.003 0 0 0 0 1 0 0 0 0 72359 chr3 56667725 56667725 T C rs139767461 TASOR Nonsynonymous SNV I595V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 6.37 72360 chr3 47385389 47385389 G A rs148682976 KLHL18 Synonymous SNV E561E 0.019 0.026 0.007 9 22 10 0.023 2 0 0 0 0 10.07 72361 chr16 57722305 57722305 A G rs764677694 ADGRG3 Nonsynonymous SNV S408G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.015 72362 chr3 47449019 47449019 C T rs148428184 PTPN23 Synonymous SNV N190N 0.007 0 0 5 8 0 0.013 0 0 0 0 0 15.6 72363 chr4 152571275 152571275 G A rs182862377 FAM160A1 Synonymous SNV E694E 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 2.137 72364 chr17 7094050 7094050 C T rs147232488 DLG4 Nonsynonymous SNV V658I 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Likely benign 20.3 72365 chr16 58054135 58054135 A G rs143382202 USB1 Nonsynonymous SNV M244V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Uncertain significance 11.49 72366 chr4 113539459 113539459 T C ZGRF1 Nonsynonymous SNV N580S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 72367 chr16 58201631 58201631 G A rs55748630 CSNK2A2 Synonymous SNV A194A 0.017 0.023 0.003 1 20 9 0.003 1 0 0 0 0 11.63 72368 chr5 138764329 138764329 G C rs150334373 DNAJC18 Nonsynonymous SNV R91G 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 27.1 72369 chr3 58555528 58555528 T C rs140130365 FAM107A Synonymous SNV E20E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.534 72370 chr4 41686520 41686520 C T rs61745963 LIMCH1 Nonsynonymous SNV P767S 0.009 0.013 0.014 4 11 5 0.01 4 0 0 0 0 12.39 72371 chr4 15482360 15482360 C T rs1861050 CC2D2A Stop gain R88X 0.032 0.023 0.034 14 38 9 0.036 10 1 0 0 0 Benign 11.93 72372 chr4 119203330 119203330 G A rs35996030 PRSS12 Nonsynonymous SNV R797C 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Likely benign 34 72373 chr3 48508961 48508961 A C rs76224909 TREX1 Nonsynonymous SNV T293P 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Uncertain significance 22.9 72374 chr4 15518357 15518357 A C rs16892095 CC2D2A Nonsynonymous SNV E376A 0.024 0.018 0.017 9 28 7 0.023 5 1 0 0 0 Benign 0.138 72375 chr5 110082001 110082001 C A rs202123515 SLC25A46 Nonsynonymous SNV T139N 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 72376 chr4 155253661 155253661 A G rs145321497 DCHS2 Synonymous SNV D1233D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.673 72377 chr5 112178112 112178112 C T rs34919187 APC Nonsynonymous SNV A2256V 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign/Likely benign 16.24 72378 chr17 71746361 71746361 G A rs17782705 LINC00469 0 0 0.49 0 0 0 0 144 0 0 39 0 11.09 72379 chr17 71746386 71746386 A G rs17191848 LINC00469 0 0 0.51 0 0 0 0 150 0 0 39 0 3.863 72380 chr5 112197082 112197082 C T rs11555908 SRP19 Synonymous SNV C3C 0.016 0.026 0.003 1 19 10 0.003 1 0 0 0 0 12.44 72381 chr17 71746427 71746427 G A rs35481671 LINC00469 0 0 0.517 0 0 0 0 152 0 0 39 0 6.803 72382 chr4 120085448 120085448 A G rs7687613 MYOZ2 Synonymous SNV E153E 0.036 0.034 0.051 16 42 13 0.041 15 2 0 0 0 Benign/Likely benign 6.892 72383 chr17 71746435 71746435 C T rs34026863 LINC00469 0 0 0.517 0 0 0 0 152 0 0 39 0 3.595 72384 chr4 47643965 47643965 G A rs143992388 CORIN Stop gain Q620X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 39 72385 chr16 67859854 67859854 G A rs201777144 TSNAXIP1 Nonsynonymous SNV R271H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.184 72386 chr17 7197633 7197633 A G rs8069533 YBX2 Nonsynonymous SNV S63P 0.066 0.042 0.027 44 77 16 0.113 8 35 8 4 21 11.73 72387 chr5 112177847 112177847 A C rs886059797 APC Nonsynonymous SNV K2168Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 25 72388 chr17 7226276 7226276 G C rs143317552 NEURL4 Nonsynonymous SNV P862A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 14.36 72389 chr3 49294241 49294241 G C rs756976736 CCDC36 Synonymous SNV R437R 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 0.372 72390 chr5 112824048 112824048 - GCCGCC rs531679771 MCC G21_S22insGG 0.015 0.023 0 4 18 9 0.01 0 0 0 0 1 72391 chr4 48096138 48096138 T G rs780007278 TXK Nonsynonymous SNV Q222P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.725 72392 chr3 49456754 49456754 A G rs201141125 AMT Nonsynonymous SNV V168A 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 Uncertain significance 26.7 72393 chr3 49569067 49569067 G A rs759914235 DAG1 Nonsynonymous SNV A375T 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 17.71 72394 chr17 72366734 72366734 C T GPR142 Nonsynonymous SNV P57S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 72395 chr17 72540796 72540796 G A rs144695162 CD300C Stop gain R118X 0.003 0 0.003 0 3 0 0 1 0 0 0 0 30 72396 chr4 15704874 15704874 G C rs2302468 BST1 Nonsynonymous SNV G36A 0.013 0.01 0.007 7 15 4 0.018 2 0 0 0 0 23.3 72397 chr4 15780247 15780247 C T rs78580781 CD38 Synonymous SNV Y70Y 0.014 0.008 0.003 4 16 3 0.01 1 1 0 0 0 Benign 5.62 72398 chr4 126237751 126237751 G C rs201009019 FAT4 Nonsynonymous SNV G62A 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Likely benign 25.4 72399 chr5 115837938 115837938 C T rs757885432 SEMA6A Nonsynonymous SNV M62I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.5 72400 chr3 8794712 8794712 C T rs144289031 OXTR Nonsynonymous SNV S374N 0.002 0 0 0 2 0 0 0 0 0 0 0 23 72401 chr4 5710119 5710119 G T rs544397395 EVC2 Nonsynonymous SNV P41H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 72402 chr4 16077335 16077335 C T rs536200436 PROM1 Synonymous SNV V65V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 72403 chr4 163032498 163032498 C G rs140747357 FSTL5 Nonsynonymous SNV E17D 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 0.002 72404 chr17 72923779 72923779 C T rs150472678 OTOP2 Nonsynonymous SNV L177F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 72405 chr16 71209585 71209585 G A rs372896009 HYDIN Synonymous SNV P174P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.01 72406 chr3 50402531 50402531 G A rs200429466 CACNA2D2 Synonymous SNV G1061G 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 Likely benign 13.08 72407 chr4 57215803 57215803 G A rs150162083 AASDH Nonsynonymous SNV A220V 0.009 0.018 0.017 3 10 7 0.008 5 0 0 0 0 1.336 72408 chr3 97595757 97595757 A G rs189228302 CRYBG3 Nonsynonymous SNV T1907A 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 5.314 72409 chr4 57221348 57221348 T C rs3796543 AASDH Nonsynonymous SNV K268R 0.01 0.023 0.02 4 12 9 0.01 6 0 1 0 0 0.732 72410 chr4 126372975 126372975 A C rs76491994 FAT4 Nonsynonymous SNV I3604L 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 Benign/Likely benign 20.5 72411 chr4 57248716 57248716 G C rs34228795 AASDH Nonsynonymous SNV P93R 0.01 0.023 0.02 4 12 9 0.01 6 0 1 0 0 23.8 72412 chr4 57250285 57250285 T C rs34543011 AASDH Nonsynonymous SNV I61V 0.01 0.023 0.02 4 12 9 0.01 6 0 1 0 0 14.38 72413 chr4 57356588 57356588 A G rs17086879 SRP72 Synonymous SNV L409L 0.01 0.023 0.02 4 12 9 0.01 6 0 1 0 0 Benign 9.591 72414 chr4 57377377 57377377 G A rs61732641 ARL9 Synonymous SNV L102L 0.01 0.023 0.02 5 12 9 0.013 6 0 1 0 0 16.33 72415 chr17 72958370 72958370 G A rs139939422 HID1 Synonymous SNV F190F 0.021 0.01 0.02 6 25 4 0.015 6 2 0 0 0 15.17 72416 chr3 52027854 52027865 CCTTGGCCTTGG - rs567070035 RPL29 A127_K130del 0.006 0 0 4 7 0 0.01 0 0 0 0 0 72417 chr3 52027865 52027865 - CCTTGG RPL29 K130_D131insAK 0.004 0 0 3 5 0 0.008 0 0 0 0 0 72418 chr16 71884693 71884693 T C rs377449268 ATXN1L Synonymous SNV R350R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.007 72419 chr4 130030783 130030783 C T rs114250643 C4orf33 Synonymous SNV Y150Y 0.056 0.06 0.061 45 66 23 0.115 18 1 1 0 1 11.26 72420 chr5 140636 140636 G A rs12523402 PLEKHG4B Nonsynonymous SNV A428T 0.072 0.078 0.088 28 84 30 0.072 26 2 1 1 0 0.408 72421 chr4 5754712 5754712 G A EVC Synonymous SNV R416R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 72422 chr16 72830248 72830248 C T rs142316393 ZFHX3 Synonymous SNV P1197P 0.012 0.021 0.01 9 14 8 0.023 3 0 1 0 0 5.215 72423 chr16 72984454 72984454 C T rs533692914 ZFHX3 Nonsynonymous SNV A130T 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 72424 chr5 127419938 127419955 GCGGCGGCGGCGGCGGCA - rs759381412 SLC12A2 A102_A107del 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 72425 chr4 57856926 57856926 C T rs769376404 POLR2B Synonymous SNV D35D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.08 72426 chr5 140768996 140769019 GCGCGCCTTCGACCACGAGCAGCT - rs554190431 PCDHGB4 D519_F526del 0.005 0.016 0.01 0 6 6 0 3 0 1 0 0 72427 chr16 72993631 72993631 G A rs62640011 ZFHX3 Synonymous SNV D138D 0.003 0 0 0 3 0 0 0 0 0 0 0 4.091 72428 chr4 13603200 13603200 T G rs61995954 BOD1L1 Nonsynonymous SNV Q1775P 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 22.7 72429 chr5 127681251 127681251 C T rs28763946 FBN2 Synonymous SNV L1005L 0.019 0.018 0.003 6 22 7 0.015 1 1 0 0 0 Benign/Likely benign 13.06 72430 chr17 73565161 73565163 CAA - rs770293309 LLGL2 N476del 0 0 0.003 0 0 0 0 1 0 0 0 0 72431 chr4 140640704 140640704 G A rs4863506 MAML3 Nonsynonymous SNV P1064S 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 6.075 72432 chr16 76569482 76569482 T C rs200822240 CNTNAP4 Synonymous SNV I803I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.847 72433 chr3 99569770 99569770 C T rs36005744 FILIP1L Synonymous SNV T10T 0.009 0.016 0.007 2 11 6 0.005 2 0 0 0 0 14.63 72434 chr4 140811064 140811066 TGC - rs58015886 MAML3 Q510del 0.005 0.013 0.017 2 6 5 0.005 5 0 0 0 0 72435 chr5 1294166 1294166 C T rs61748181 TERT Nonsynonymous SNV A279T 0.02 0.018 0.031 7 24 7 0.018 9 1 1 0 0 Benign 8.235 72436 chr17 73746884 73746884 G A rs75129664 ITGB4 Nonsynonymous SNV G1200R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 72437 chr3 9985096 9985096 G A rs76764016 CRELD1 Synonymous SNV P315P 0.014 0.01 0.003 1 16 4 0.003 1 1 0 0 0 Benign 11.27 72438 chr4 141313500 141313500 G A rs34492995 CLGN Synonymous SNV T508T 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 9.54 72439 chr3 99998531 99998531 G C rs62636640 TBC1D23 Nonsynonymous SNV C31S 0.009 0.01 0.007 0 11 4 0 2 0 0 0 0 Likely benign 19 72440 chr17 73840305 73840305 C T rs755103812 UNC13D Synonymous SNV P38P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.31 72441 chr16 81209247 81209247 C T rs1869349 PKD1L2 Nonsynonymous SNV R164H 0.063 0.063 0.054 33 74 24 0.085 16 2 1 0 2 7.819 72442 chr5 141244356 141244356 C T rs3822357 PCDH1 Nonsynonymous SNV A135T 0.05 0.065 0.071 19 59 25 0.049 21 0 1 1 0 18.91 72443 chr17 73945933 73945933 C T rs753969664 ACOX1 Synonymous SNV V410V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.04 72444 chr4 100348950 100348950 C A ADH7 Nonsynonymous SNV A194S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 72445 chr5 133476523 133476523 C T rs897119897 TCF7 Synonymous SNV C109C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 72446 chr5 141336567 141336567 T C rs78397925 PCDH12 Nonsynonymous SNV S284G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 0.536 72447 chr5 141337265 141337265 T C rs138473035 PCDH12 Nonsynonymous SNV Q51R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.047 72448 chr4 18023310 18023321 GCGGCGGCGGCG - rs959628640 LCORL A19_A22del 0.001 0 0 0 1 0 0 0 0 0 0 0 72449 chr5 133642326 133642326 T C rs142248452 CDKL3 Nonsynonymous SNV R183G 0.01 0.005 0.01 6 12 2 0.015 3 1 0 0 0 22.2 72450 chr5 135272512 135272512 C T rs141254114 FBXL21P 0.011 0.008 0.02 4 13 3 0.01 6 0 0 0 0 13.69 72451 chr17 74559287 74559287 T C rs4451979 SNHG16 0 0 0.041 0 0 0 0 12 0 0 5 0 1.423 72452 chr4 184368506 184368506 C T rs1034749369 CDKN2AIP Synonymous SNV L557L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.539 72453 chr4 154506081 154506081 G A rs11931730 TMEM131L Synonymous SNV Q385Q 0.021 0.021 0.027 3 25 8 0.008 8 0 0 0 0 0.628 72454 chr4 154680954 154680954 C T rs79269237 RNF175 Nonsynonymous SNV E21K 0.026 0.036 0.007 13 30 14 0.033 2 0 0 0 1 14.15 72455 chr4 71024240 71024240 C T rs1613461 PRR27 Nonsynonymous SNV R91C 0.013 0.018 0.024 11 15 7 0.028 7 0 0 0 0 22.4 72456 chr16 84030848 84030848 C T rs7193267 NECAB2 Synonymous SNV L192L 0.015 0.013 0.02 1 18 5 0.003 6 0 0 0 0 9.337 72457 chr4 154524518 154524518 C T rs75021120 TMEM131L Synonymous SNV F901F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 15.82 72458 chr5 14664976 14664976 C A OTULIN Synonymous SNV G14G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.31 72459 chr4 154624746 154624746 G A rs762029047 TLR2 Synonymous SNV L229L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.854 72460 chr5 14681593 14681593 G T rs147790160 OTULIN Nonsynonymous SNV Q115H 0.016 0.018 0.024 2 19 7 0.005 7 0 0 0 0 Benign 12.4 72461 chr4 186283092 186283092 C T rs34120554 SNX25 Nonsynonymous SNV T725I 0.026 0.013 0.007 5 30 5 0.013 2 0 0 0 0 23.5 72462 chr17 76121031 76121031 C T rs34712518 TMC6 Nonsynonymous SNV G191D 0.029 0.036 0.041 9 34 14 0.023 12 1 0 0 0 0.209 72463 chr17 76127738 76127738 G A rs35748721 TMC8 Synonymous SNV E23E 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 10.83 72464 chr3 61548022 61548022 C T rs146419543 PTPRG Nonsynonymous SNV L21F 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 20.1 72465 chr4 186544156 186544156 G A rs572897258 SORBS2 Synonymous SNV C709C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 72466 chr16 84215475 84215475 G A rs4150145 TAF1C Nonsynonymous SNV S304F 0.004 0 0.003 0 5 0 0 1 0 0 0 0 15.7 72467 chr3 64667021 64667021 G A rs769341140 ADAMTS9 Nonsynonymous SNV H179Y 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 21.6 72468 chr4 107246190 107246190 G C rs11544777 AIMP1 Synonymous SNV L8L 0.026 0.031 0.014 10 31 12 0.026 4 1 0 0 0 10.5 72469 chr4 187201271 187201271 C T rs5964 F11 Synonymous SNV I287I 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.656 72470 chr4 74964625 74964625 T C rs142264518 CXCL2 Nonsynonymous SNV T39A 0.003 0.01 0.01 1 3 4 0.003 3 0 0 0 0 0.953 72471 chr17 76495359 76495359 T C rs11077377 DNAH17-AS1 0 0 0.112 0 0 0 0 33 0 0 8 0 1.331 72472 chr5 148422274 148422274 C T rs17722293 SH3TC2 Nonsynonymous SNV G171E 0.019 0.01 0.034 5 22 4 0.013 10 1 1 0 0 Benign 23.2 72473 chr5 139202369 139202369 C T rs145276080 PSD2 Synonymous SNV H423H 0.009 0.013 0 3 10 5 0.008 0 0 0 0 0 13.44 72474 chr4 1087772 1087772 G A rs150642883 RNF212 Nonsynonymous SNV L93F 0.02 0.005 0.007 4 23 2 0.01 2 2 0 0 0 3.543 72475 chr5 148996328 148996328 G A rs57292511 ARHGEF37 Synonymous SNV V219V 0.013 0.003 0.024 7 15 1 0.018 7 0 0 0 0 10.6 72476 chr5 149008484 149008484 G A rs3733661 ARHGEF37 Synonymous SNV P591P 0.013 0.003 0.02 7 15 1 0.018 6 0 0 0 0 7.116 72477 chr4 110610618 110610618 T C CASP6 Synonymous SNV T161T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.561 72478 chr17 7662437 7662437 C T rs142532084 DNAH2 Nonsynonymous SNV P815S 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 Likely benign 8.586 72479 chr5 149212753 149212753 - CAAGGC rs747110269 PPARGC1B P338_P339insRP 0 0.003 0.003 0 0 1 0 1 0 0 0 0 72480 chr4 20618734 20618734 G A rs115629108 SLIT2 Nonsynonymous SNV S1346N 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 Likely benign 20.7 72481 chr3 73437195 73437195 C T rs765290379 PDZRN3 Nonsynonymous SNV R179H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.9 72482 chr17 7720915 7720915 G A rs377451508 DNAH2 Nonsynonymous SNV A3353T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.607 72483 chr16 84531559 84531559 A G rs200259993 MEAK7 Nonsynonymous SNV F45S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 72484 chr4 24585994 24585994 T A DHX15 Nonsynonymous SNV D8V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 72485 chr4 165962490 165962490 A T rs77293967 TRIM60 Nonsynonymous SNV E422D 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 0.092 72486 chr4 166935617 166935617 C A TLL1 Nonsynonymous SNV S316Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.3 72487 chr4 169606648 169606648 A T rs140454899 PALLD Nonsynonymous SNV T43S 0.008 0.008 0.02 4 9 3 0.01 6 0 0 0 0 Conflicting interpretations of pathogenicity 16.83 72488 chr4 25834670 25834670 T C rs139989095 SEL1L3 Nonsynonymous SNV I314V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 13.95 72489 chr4 26417129 26417129 T A RBPJ Nonsynonymous SNV M41K 0.003 0 0 0 4 0 0 0 0 0 0 0 21.5 72490 chr17 78059902 78059902 G A rs183809462 CCDC40 Nonsynonymous SNV R779H 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 72491 chr4 26417199 26417199 G A rs1064366 RBPJ Synonymous SNV P64P 0.003 0 0 0 4 0 0 0 0 0 0 0 12.47 72492 chr4 265195 265207 AAAAAGGCTTTGC - rs781970318 ZNF732 G480Dfs*6 0.003 0 0 0 4 0 0 0 0 0 0 0 72493 chr4 265210 265364 CACTCTTCACATCTATAAGGTTTCTCTCCAGTATGAATTTTCTTATGTTTACTCAGGTATGCAGACCATCCAAAGGCTTTGCCACACTCTTCACATTTGTAAGGTTTCTCTCCAGTATGAATTATCTTATGTTTATTCAGGTCTGTGGACCATCC - ZNF732 G428Wfs*12 0.003 0 0 0 4 0 0 0 0 0 0 0 72494 chr3 97851727 97851727 C T OR5H1 Synonymous SNV L62L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.612 72495 chr16 87723511 87723511 C A JPH3 Synonymous SNV I515I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.45 72496 chr3 97851968 97851968 C T rs139235176 OR5H1 Nonsynonymous SNV R143W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.32 72497 chr5 140530405 140530405 G A rs61745088 PCDHB6 Synonymous SNV K189K 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 10.8 72498 chr4 175229984 175229984 G A rs757554027 CEP44 Nonsynonymous SNV V218I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 2.765 72499 chr5 140625664 140625664 C A rs148997303 PCDHB15 Nonsynonymous SNV S173Y 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 10.81 72500 chr4 79440521 79440521 G A rs201963922 FRAS1 Nonsynonymous SNV V3476M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 72501 chr4 1705403 1705403 T C rs140082881 SLBP Synonymous SNV K28K 0.004 0 0.003 6 5 0 0.015 1 0 0 0 0 8.062 72502 chr5 140740950 140740950 A G rs74488479 PCDHGB2 Synonymous SNV P416P 0.011 0.008 0.02 1 13 3 0.003 6 0 0 0 0 0.002 72503 chr17 78220385 78220385 A G rs143908551 SLC26A11 Nonsynonymous SNV I411V 0 0.005 0.007 0 0 2 0 2 0 0 0 0 22.8 72504 chr4 3076604 3076624 CAGCAGCAGCAGCAGCAGCAG - HTT Q32_Q38del 0.011 0.018 0 10 13 7 0.026 0 0 0 0 1 72505 chr4 79792136 79792136 - CAG rs752405558 BMP2K Q486_H487insQ 0.009 0.01 0.003 0 11 4 0 1 0 0 0 0 72506 chr4 3076622 3076624 CAG - HTT Q38del 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 72507 chr4 1746442 1746442 A T rs147358454 TACC3 Synonymous SNV A778A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.956 72508 chr16 88504203 88504203 G C rs199528724 ZNF469 Nonsynonymous SNV R3442T 0.02 0 0.01 14 23 0 0.036 3 0 0 0 0 Likely benign 9.988 72509 chr5 140772545 140772545 C A rs953803165 PCDHGA8 Nonsynonymous SNV D55E 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 0.002 72510 chr4 175416764 175416764 C T rs139715202 HPGD Nonsynonymous SNV V77I 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 Uncertain significance 15.08 72511 chr17 78326267 78326267 C T rs8078851 RNF213-AS1 0 0 0.156 0 0 0 0 46 0 0 20 0 6.745 72512 chr17 78403894 78403894 C T rs752094111 ENDOV Nonsynonymous SNV R298C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.4 72513 chr4 17635400 17635400 T C rs202198134 FAM184B Nonsynonymous SNV I1001V 0.012 0 0.003 2 14 0 0.005 1 0 0 0 0 17.76 72514 chr4 36310065 36310065 G A rs61739432 DTHD1 Nonsynonymous SNV R392Q 0.014 0.005 0.01 4 16 2 0.01 3 0 0 0 0 24.6 72515 chr17 78899178 78899178 C T rs148489107 RPTOR Synonymous SNV D781D 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 11.53 72516 chr17 78942635 78942635 C T rs11650042 LOC400627 0 0 0.184 0 0 0 0 54 0 0 3 0 11.71 72517 chr17 78944840 78944840 T C rs6565507 LOC400627 0 0 0.112 0 0 0 0 33 0 0 15 0 1.75 72518 chr17 79004616 79004616 C T rs12452150 BAIAP2-DT 0 0 0.017 0 0 0 0 5 0 0 2 0 4.964 72519 chr5 145895083 145895083 A G rs763562904 GPR151 Synonymous SNV F198F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.001 72520 chr4 184930710 184930710 G A rs200837182 STOX2 Nonsynonymous SNV S240N 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 22.6 72521 chr17 79096535 79096535 T G rs533169152 AATK Nonsynonymous SNV K298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 72522 chr4 186084021 186084021 C T rs146037638 CFAP97 Synonymous SNV A510A 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 12.45 72523 chr17 79279019 79279019 - C rs3215153 LINC00482 0 0 0.126 0 0 0 0 37 0 0 3 0 72524 chr5 14601182 14601182 C T rs141336994 OTULINL Nonsynonymous SNV A58V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.092 72525 chr4 100512919 100512919 C G rs17599091 MTTP Nonsynonymous SNV Q271E 0.021 0.039 0.037 11 25 15 0.028 11 0 1 1 0 Benign 0.168 72526 chr4 39219636 39219636 C T rs201148758 WDR19 Nonsynonymous SNV R304C 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 27.3 72527 chr4 87967399 87967399 A G rs7689167 AFF1 Synonymous SNV A33A 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 8.438 72528 chr4 100570601 100570601 C T rs142020179 C4orf54 Synonymous SNV P1735P 0.012 0.021 0.027 7 14 8 0.018 8 0 0 1 0 3.241 72529 chr4 100571761 100571761 C T rs578237898 C4orf54 Nonsynonymous SNV A1349T 0.012 0.021 0.027 7 14 8 0.018 8 0 0 1 0 0.01 72530 chr4 88344063 88344063 G C rs11937770 NUDT9 Synonymous SNV A2A 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 11.29 72531 chr4 40122313 40122313 A T rs61748748 N4BP2 Nonsynonymous SNV E861V 0.021 0.039 0.024 14 25 15 0.036 7 0 1 0 0 22.8 72532 chr17 79687161 79687161 G T SLC25A10 Stop gain E279X 0 0 0.003 0 0 0 0 1 0 0 0 0 7.999 72533 chr17 7984479 7984479 G A rs72842957 ALOX12B Nonsynonymous SNV P127S 0.026 0.026 0.041 11 31 10 0.028 12 1 0 1 0 Likely benign 12.56 72534 chr5 148206885 148206885 C T rs1800888 ADRB2 Nonsynonymous SNV T164I 0.012 0.021 0.02 11 14 8 0.028 6 0 0 0 0 drug response 10.93 72535 chr4 144619935 144619935 T C FREM3 Nonsynonymous SNV M632V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.001 72536 chr4 146077132 146077132 C T rs36225838 OTUD4 Nonsynonymous SNV A151T 0.037 0.047 0.037 21 44 18 0.054 11 0 0 0 2 0.082 72537 chr17 80085648 80085648 C G rs78509330 CCDC57 Nonsynonymous SNV G448A 0.017 0.005 0.024 6 20 2 0.015 7 0 0 0 0 5.855 72538 chr4 187540061 187540061 G A rs530048131 FAT1 Nonsynonymous SNV A2560V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.647 72539 chr4 96051098 96051098 G A rs35973133 BMPR1B Nonsynonymous SNV R224H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 72540 chr17 80194648 80194648 C T rs200551682 SLC16A3 Synonymous SNV P89P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 18.14 72541 chr5 170883734 170883734 G A rs34347344 FGF18 Synonymous SNV P183P 0.068 0.063 0.031 25 80 24 0.064 9 5 1 0 1 4.567 72542 chr17 80206871 80206871 G A rs17849769 CSNK1D Synonymous SNV P359P 0.035 0.031 0.044 13 41 12 0.033 13 0 0 0 0 8.912 72543 chr4 1980605 1980605 G A rs762564946 NSD2 Nonsynonymous SNV R1356K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 72544 chr5 149907641 149907641 C T rs2273233 NDST1 Synonymous SNV H263H 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 14.65 72545 chr4 23815678 23815678 G A rs61743310 PPARGC1A Synonymous SNV D349D 0.008 0 0.003 7 9 0 0.018 1 0 0 0 0 Benign 2.068 72546 chr5 149998289 149998289 C T rs114171645 SYNPO Synonymous SNV S120S 0.003 0.013 0 4 4 5 0.01 0 0 0 0 0 6.408 72547 chr4 1087369 1087369 C G rs73792265 RNF212 Nonsynonymous SNV C227S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.699 72548 chr5 176026327 176026327 T G GPRIN1 Nonsynonymous SNV D170A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 20.8 72549 chr4 52943061 52943061 A G rs141695566 SPATA18 Nonsynonymous SNV K67R 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 8.313 72550 chr4 1107245 1107245 T C rs78978823 RNF212 Nonsynonymous SNV N3S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 7.337 72551 chr4 3144528 3144528 C G rs190593027 HTT Nonsynonymous SNV T994R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24 72552 chr17 8215692 8215692 C T ARHGEF15 Nonsynonymous SNV P112L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 72553 chr4 155254540 155254540 G C rs79215995 DCHS2 Nonsynonymous SNV H940Q 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 25.1 72554 chr17 8249116 8249116 C T rs2302869 ODF4 Synonymous SNV T125T 0.011 0.003 0.01 4 13 1 0.01 3 0 0 0 0 7.76 72555 chr4 57173854 57173854 G A rs35378328 KIAA1211 Nonsynonymous SNV A92T 0.009 0.013 0.017 5 10 5 0.013 5 0 0 0 0 0.001 72556 chr4 113468564 113468564 C T rs78336146 ZGRF1 Synonymous SNV R1767R 0.04 0.039 0.041 11 47 15 0.028 12 3 0 0 0 14.77 72557 chr4 155411883 155411883 G A rs17373860 DCHS2 Nonsynonymous SNV P209S 0.03 0.034 0.027 8 35 13 0.021 8 1 0 0 0 0.004 72558 chr17 1538430 1538430 G C rs368925073 SCARF1 Synonymous SNV V705V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.198 72559 chr4 155530881 155530881 C T FGG Synonymous SNV Q189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 72560 chr4 25418134 25418134 T C rs201616481 ANAPC4 Synonymous SNV D664D 0.003 0 0 0 4 0 0 0 0 0 0 0 4.465 72561 chr4 1164308 1164308 C T rs7689089 SPON2 Synonymous SNV K231K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 14.83 72562 chr4 3516559 3516559 C T rs1800493 LRPAP1 Nonsynonymous SNV V311M 0.013 0.003 0.024 4 15 1 0.01 7 0 0 0 0 4.955 72563 chr18 10672782 10672782 T A rs34134242 PIEZO2 Synonymous SNV G2637G 0.01 0.005 0.017 3 12 2 0.008 5 0 0 0 0 Likely benign 8.979 72564 chr4 57220347 57220347 T C rs150873866 AASDH Nonsynonymous SNV D314G 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 12.97 72565 chr4 156784847 156784847 G A rs138414327 ASIC5 Stop gain R34X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 33 72566 chr4 119652555 119652555 G A rs79301273 SEC24D Synonymous SNV F929F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 13.82 72567 chr4 119673856 119673856 G C SEC24D Nonsynonymous SNV H538D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.83 72568 chr5 178383946 178383946 A G rs11750505 ZNF454 Nonsynonymous SNV Y97C 0.04 0.063 0 23 47 24 0.059 0 21 12 0 10 0.265 72569 chr5 112174096 112174096 C T rs137854575 APC Synonymous SNV Y917Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 0.203 72570 chr5 151771874 151771874 C T rs61735377 NMUR2 Nonsynonymous SNV E376K 0.021 0.021 0.01 7 25 8 0.018 3 0 0 0 0 28.3 72571 chr5 178409950 178409950 G A rs17078875 GRM6 Synonymous SNV F799F 0.026 0.031 0 12 31 12 0.031 0 0 0 0 0 not provided 10.25 72572 chr17 1649099 1649099 C T rs757700308 SERPINF2 Nonsynonymous SNV A88V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.13 72573 chr4 159590922 159590922 - A rs769456843 C4orf46 0.009 0.008 0.02 0 11 3 0 6 0 0 0 0 72574 chr4 39064214 39064214 C T rs748556963 KLHL5 Nonsynonymous SNV T27I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.8 72575 chr5 156770344 156770344 G C rs115757838 FNDC9 Synonymous SNV A67A 0.02 0.013 0.02 13 24 5 0.033 6 0 0 0 2 5.568 72576 chr4 1209827 1209827 G A rs139911392 CTBP1 Synonymous SNV G238G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 7.935 72577 chr4 57891677 57891677 T C rs748661646 POLR2B Synonymous SNV N996N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.072 72578 chr4 5812162 5812162 C A EVC Nonsynonymous SNV T960N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 72579 chr4 5961146 5961146 T C rs77621594 C4orf50 Nonsynonymous SNV S1316G 0.007 0.003 0.003 7 8 1 0.018 1 0 0 0 0 9.727 72580 chr5 178987142 178987142 G A rs762134886 RUFY1 Nonsynonymous SNV A35T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 72581 chr17 1703804 1703804 T C rs142408162 SMYD4 Nonsynonymous SNV Y295C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 26.2 72582 chr4 5975385 5975385 C T rs138928790 C4orf50 0.01 0.008 0.003 5 12 3 0.013 1 0 0 0 0 23.7 72583 chr4 122800987 122800987 T C rs41278087 TRPC3 Synonymous SNV E862E 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 0.818 72584 chr5 118485256 118485256 C A rs144716992 DMXL1 Nonsynonymous SNV S1245Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.05 72585 chr5 156479589 156479589 C T rs61734032 HAVCR1 Synonymous SNV T152T 0.006 0.018 0 8 7 7 0.021 0 0 0 0 0 13.92 72586 chr4 166403465 166403465 T C rs762207857 CPE Synonymous SNV H248H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.08 72587 chr5 1208934 1208934 C T rs146678323 SLC6A19 Synonymous SNV I92I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 11.44 72588 chr4 169169370 169169370 G A DDX60 Nonsynonymous SNV S1311L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 72589 chr4 126336337 126336337 A G rs35355603 FAT4 Synonymous SNV Q2073Q 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 2.054 72590 chr17 3020698 3020698 T G rs532024355 OR1E3 Nonsynonymous SNV L269V 0.003 0 0 0 3 0 0 0 0 0 0 0 4.569 72591 chr4 42119721 42119721 G A rs73812731 BEND4 Synonymous SNV P473P 0.011 0.003 0.007 1 13 1 0.003 2 0 0 0 0 Likely benign 13.17 72592 chr4 4249909 4249909 C A rs2272746 TMEM128 Synonymous SNV R7R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 11.19 72593 chr4 42576655 42576655 T C rs138169536 ATP8A1 Nonsynonymous SNV I426V 0.008 0.005 0 0 9 2 0 0 0 0 0 0 19.04 72594 chr4 38776235 38776235 A G rs11466653 TLR10 Nonsynonymous SNV M326T 0.054 0.047 0.068 22 63 18 0.056 20 1 1 0 0 24.4 72595 chr5 122708419 122708419 T C rs778029588 CEP120 Synonymous SNV Q776Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.043 72596 chr4 38776320 38776320 C T rs11466651 TLR10 Nonsynonymous SNV V298I 0.054 0.047 0.068 21 63 18 0.054 20 1 1 0 0 9.435 72597 chr4 68810346 68810346 T C rs139010197 TMPRSS11A Nonsynonymous SNV K48R 0.039 0.018 0.031 16 46 7 0.041 9 0 0 0 0 0.003 72598 chr4 1305799 1305799 C T rs34082974 MAEA Synonymous SNV R34R 0.006 0.003 0.007 5 7 1 0.013 2 0 0 0 1 15.69 72599 chr5 180335720 180335720 A G rs145199317 BTNL8 Nonsynonymous SNV S62G 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 0.014 72600 chr4 38776725 38776725 C A rs11466649 TLR10 Nonsynonymous SNV A163S 0.054 0.047 0.068 21 63 18 0.054 20 1 1 0 0 16.53 72601 chr4 38777059 38777059 C T rs10856837 TLR10 Synonymous SNV T51T 0.055 0.049 0.068 21 65 19 0.054 20 1 1 0 0 5.9 72602 chr4 135122014 135122014 G T PABPC4L Nonsynonymous SNV A54D 0 0 0 1 0 0 0.003 0 0 0 0 0 27 72603 chr4 44693710 44693710 A G rs112026924 GUF1 Nonsynonymous SNV I179V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 11.41 72604 chr4 38830116 38830116 C T rs3796508 TLR6 Nonsynonymous SNV V327M 0.005 0.013 0.01 1 6 5 0.003 3 0 0 0 0 4.389 72605 chr4 13616292 13616292 T A rs142359246 BOD1L1 Synonymous SNV S234S 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 0.528 72606 chr5 167689404 167689404 C T rs17070041 TENM2 Synonymous SNV I2399I 0.028 0.031 0.02 8 33 12 0.021 6 0 0 0 0 13.89 72607 chr4 38830736 38830736 A G rs5743808 TLR6 Nonsynonymous SNV I120T 0.006 0.016 0.01 1 7 6 0.003 3 0 0 0 0 7.464 72608 chr5 167689557 167689557 C T rs368729024 TENM2 Synonymous SNV D2450D 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 12.26 72609 chr4 466426 466426 G A rs913722741 ABCA11P 0.008 0.008 0.003 4 9 3 0.01 1 0 0 0 0 0.508 72610 chr5 180651769 180651769 A G rs775825238 TRIM41 Nonsynonymous SNV Q257R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 18.97 72611 chr4 140188094 140188094 C T rs3208941 MGARP Nonsynonymous SNV A128T 0.024 0.023 0.014 13 28 9 0.033 4 1 0 0 0 22.9 72612 chr4 1741485 1741485 C T rs150991238 TACC3 Synonymous SNV H666H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.99 72613 chr4 47628493 47628493 C T rs150493343 CORIN Synonymous SNV P644P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.99 72614 chr5 169689989 169689989 T C LCP2 Synonymous SNV K260K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.343 72615 chr18 30092327 30092327 G A rs1985293 WBP11P1 0 0 0.286 0 0 0 0 84 0 0 35 0 4.071 72616 chr4 141446709 141446709 A G ELMOD2 Nonsynonymous SNV R43G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 72617 chr5 171523471 171523471 G A rs56214442 STK10 Nonsynonymous SNV R322W 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 32 72618 chr17 3495465 3495465 C T rs56095209 TRPV1 Synonymous SNV P60P 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 8.104 72619 chr5 131647744 131647744 C A rs114403325 MIR3936HG 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 5.687 72620 chr4 17710682 17710682 C T rs988361612 FAM184B Nonsynonymous SNV A243T 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.8 72621 chr4 515914 515914 T C rs534227832 PIGG Nonsynonymous SNV V584A 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 7.362 72622 chr18 3215131 3215131 G T rs76382984 MYOM1 Synonymous SNV R31R 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 Benign 7.644 72623 chr5 131822665 131822665 G C rs17622685 IRF1 Synonymous SNV L115L 0.012 0.018 0 6 14 7 0.015 0 0 0 0 0 Benign 5.905 72624 chr17 3629444 3629444 T C rs74714325 HASPIN Nonsynonymous SNV Y739H 0.003 0 0 0 4 0 0 0 0 0 0 0 12.84 72625 chr5 176314528 176314528 C A HK3 Nonsynonymous SNV M508I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.51 72626 chr4 73935320 73935320 A G rs200667988 COX18 Nonsynonymous SNV L16P 0.03 0.026 0.003 10 35 10 0.026 1 0 1 0 0 15.26 72627 chr5 173491267 173491267 G A rs73806549 NSG2 Synonymous SNV P54P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.89 72628 chr4 74124153 74124153 C T ANKRD17 Nonsynonymous SNV R78Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.5 72629 chr5 134223593 134223593 A G rs3733897 TXNDC15 Synonymous SNV K36K 0.083 0.109 0.065 25 97 42 0.064 19 6 1 3 1 1.271 72630 chr4 151511984 151511984 C T rs778545671 LRBA Nonsynonymous SNV G2025E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.2 72631 chr5 134343662 134343662 G A rs139800400 CATSPER3 Nonsynonymous SNV V170M 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 0.08 72632 chr17 4351543 4351543 G A rs149895416 SPNS3 Nonsynonymous SNV A112T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.092 72633 chr4 75681165 75681165 C T rs375367986 BTC Nonsynonymous SNV R62Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 72634 chr5 176011516 176011516 G A rs61743426 CDHR2 Nonsynonymous SNV R745Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.225 72635 chr4 467813 467813 - A rs200778794 ABCA11P 0.014 0 0.01 5 17 0 0.013 3 0 0 0 0 72636 chr4 467910 467910 A G ABCA11P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.809 72637 chr17 4488006 4488006 C A rs145890865 SMTNL2 Synonymous SNV R36R 0.017 0.016 0.014 6 20 6 0.015 4 0 0 1 0 18.82 72638 chr4 154548809 154548809 G C rs35543386 TMEM131L Nonsynonymous SNV A1393P 0.008 0.01 0.01 2 9 4 0.005 3 0 0 0 0 22.6 72639 chr18 43314339 43314339 C T rs563016158 SLC14A1 Nonsynonymous SNV L16F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 72640 chr18 44089768 44089768 C T rs200242497 LOXHD1 Nonsynonymous SNV E43K 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Uncertain significance 32 72641 chr4 186339620 186339620 T C rs61735474 UFSP2 Nonsynonymous SNV K103R 0.029 0.031 0.007 13 34 12 0.033 2 2 1 0 0 22.5 72642 chr5 176813233 176813253 GTCCCCAAGCTGCGCCAGGCT - rs876661296 SLC34A1 V91_A97del 0.014 0.005 0.007 11 16 2 0.028 2 0 0 0 0 72643 chr5 176825069 176825069 C T rs34225933 SLC34A1 Nonsynonymous SNV H568Y 0.02 0.01 0.02 16 23 4 0.041 6 0 0 0 0 Benign/Likely benign 0.001 72644 chr5 376809 376809 T C rs35008248 AHRR Nonsynonymous SNV L114P 0.014 0.021 0.014 2 17 8 0.005 4 0 0 0 0 13.46 72645 chr5 178415983 178415983 G A rs5019554 GRM6 Nonsynonymous SNV T436I 0.014 0.003 0.007 6 17 1 0.015 2 0 0 0 1 Benign/Likely benign 9.123 72646 chr4 155254623 155254623 T C DCHS2 Nonsynonymous SNV R913G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.4 72647 chr5 38481712 38481712 G A rs754371834 LIFR Synonymous SNV N1093N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.481 72648 chr4 186541302 186541302 C T rs368046187 SORBS2 Nonsynonymous SNV R740H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 72649 chr5 177019300 177019300 C G rs751447110 TMED9 Nonsynonymous SNV L29V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 2.989 72650 chr4 54915233 54915233 A G CHIC2 Synonymous SNV S73S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.394 72651 chr4 6303195 6303195 G A rs774265764 WFS1 Nonsynonymous SNV R558H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 27.7 72652 chr18 53695861 53695861 G A rs1035595 LOC642484 0 0 0.357 0 0 0 0 105 0 0 44 0 2.368 72653 chr18 5397127 5397127 C T rs371240117 EPB41L3 Nonsynonymous SNV R702H 0 0 0.007 0 0 0 0 2 0 0 0 0 6.453 72654 chr4 187541306 187541306 G A rs376279669 FAT1 Nonsynonymous SNV T2145I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 72655 chr5 178413561 178413561 G A rs150648013 GRM6 Nonsynonymous SNV T565M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.84 72656 chr5 13900321 13900321 G T rs115004914 DNAH5 Nonsynonymous SNV N751K 0.012 0.016 0.024 9 14 6 0.023 7 0 0 0 0 Benign 21.1 72657 chr17 5257760 5257760 C T rs369010650 RABEP1 Nonsynonymous SNV S314F 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 72658 chr5 178413602 178413602 G A rs138188422 GRM6 Synonymous SNV D551D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.768 72659 chr4 66231686 66231686 C T rs36050417 EPHA5 Nonsynonymous SNV A651T 0.026 0.023 0.034 2 31 9 0.005 10 1 0 0 0 23 72660 chr4 679887 679887 C T rs747020127 SLC49A3 Nonsynonymous SNV A167T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 72661 chr4 20715142 20715142 C G rs139070230 PACRGL Nonsynonymous SNV L99V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25.2 72662 chr5 484719 484719 C T rs146899318 SLC9A3 Nonsynonymous SNV R283H 0.01 0.003 0.003 2 12 1 0.005 1 0 0 0 0 31 72663 chr4 2355664 2355664 C T rs1020531599 ZFYVE28 Nonsynonymous SNV C59Y 0.002 0 0 0 2 0 0 0 0 0 0 0 30 72664 chr4 166220778 166220778 C G rs138582348 KLHL2 Synonymous SNV T131T 0.014 0.021 0.007 8 16 8 0.021 2 0 0 0 0 11.55 72665 chr4 83994507 83994507 G A rs748871775 COPS4 0.002 0 0 0 2 0 0 0 0 0 0 0 1.125 72666 chr18 59954663 59954663 G A rs17646799 RELCH Synonymous SNV T1111T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.8 72667 chr4 8443071 8443071 G A rs61733541 TRMT44 Synonymous SNV E174E 0.02 0.01 0.003 5 23 4 0.013 1 0 0 0 0 3.897 72668 chr4 70355221 70355221 - CCAT rs777408981 UGT2B4 Frameshift insertion V313Dfs*4 0.003 0 0 1 3 0 0.003 0 0 0 0 0 72669 chr5 180631894 180631894 G A rs2770946 TRIM7 Nonsynonymous SNV P73S 0.024 0.047 0.024 7 28 18 0.018 7 0 0 0 0 0.121 72670 chr5 140572538 140572538 C T rs61745622 PCDHB10 Nonsynonymous SNV T138I 0.014 0.026 0.024 13 17 10 0.033 7 0 0 0 0 0.003 72671 chr5 54581239 54581239 C T rs373393243 DHX29 Nonsynonymous SNV R413K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.996 72672 chr4 8605841 8605841 G A rs143281934 CPZ Nonsynonymous SNV S201N 0.012 0.003 0.003 6 14 1 0.015 1 0 0 0 0 24.7 72673 chr5 140710461 140710461 T C rs72806843 PCDHGA1 Synonymous SNV G70G 0.023 0.031 0.048 7 27 12 0.018 14 0 0 0 0 1.157 72674 chr5 140712586 140712586 C T rs11575968 PCDHGA1 Nonsynonymous SNV L779F 0.024 0.031 0.048 8 28 12 0.021 14 0 0 0 0 26.8 72675 chr5 140725386 140725387 AG - rs564854581 PCDHGA3 D597Lfs*189 0 0.003 0 1 0 1 0.003 0 0 0 0 0 72676 chr4 3076654 3076654 - CAA rs780836193 HTT Q38_P39insQ 0.02 0.013 0 2 24 5 0.005 0 2 2 0 0 72677 chr18 627455 627455 C G CLUL1 Nonsynonymous SNV S261C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 72678 chr4 1720224 1720224 T A rs114747829 TMEM129 Nonsynonymous SNV Y112F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 8.49 72679 chr4 1720225 1720225 A T rs115768485 TMEM129 Nonsynonymous SNV Y112N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.4 72680 chr5 140784895 140784895 C T rs4912606 PCDHGA9 Synonymous SNV C792C 0.012 0.016 0.027 2 14 6 0.005 8 0 0 0 0 7.18 72681 chr4 1725160 1725160 G A rs35624862 TACC3 Synonymous SNV Q4Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 1.099 72682 chr5 26885797 26885797 T C rs34490509 CDH9 Nonsynonymous SNV E603G 0.014 0.034 0.01 13 17 13 0.033 3 0 0 0 0 Benign 21 72683 chr17 7252446 7252446 G A rs762488840 ACAP1 Nonsynonymous SNV G604D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.34 72684 chr5 63986534 63986534 C G rs79949481 SHISAL2B Synonymous SNV G28G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.63 72685 chr18 6956194 6956194 C A rs1940970 LOC101927188 0 0 0.061 0 0 0 0 18 0 0 7 0 8.418 72686 chr18 6956205 6956205 G A rs35614634 LOC101927188 0 0 0.071 0 0 0 0 21 0 0 7 0 4.877 72687 chr18 6956415 6956415 T C rs16950875 LOC101927188 0 0 0.051 0 0 0 0 15 0 0 0 0 1.112 72688 chr17 7365391 7365391 G A rs117313567 ZBTB4 Synonymous SNV Y970Y 0.013 0.003 0.003 4 15 1 0.01 1 0 0 0 0 Benign 1.801 72689 chr4 76439485 76439485 C T rs36082473 RCHY1 Synonymous SNV T4T 0.035 0.023 0.01 9 41 9 0.023 3 1 0 0 0 Benign 21.3 72690 chr4 7666160 7666160 G A rs34058821 SORCS2 Nonsynonymous SNV G345R 0.03 0.039 0.027 18 35 15 0.046 8 2 0 0 1 21.7 72691 chr4 3768777 3768777 C T rs61754819 ADRA2C Synonymous SNV D148D 0.025 0.029 0.027 14 29 11 0.036 8 1 0 0 0 10.58 72692 chr4 941566 941566 A G rs770620253 TMEM175 Synonymous SNV T13T 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 0.002 72693 chr4 38023279 38023279 G C rs61731607 TBC1D1 Nonsynonymous SNV A384P 0.037 0.044 0.041 12 44 17 0.031 12 0 0 0 0 9.368 72694 chr4 71472001 71472001 G A rs139319140 AMBN Nonsynonymous SNV G300S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.5 72695 chr4 38023294 38023294 G A rs61731610 TBC1D1 Nonsynonymous SNV G389S 0.037 0.044 0.041 12 44 17 0.031 12 0 0 0 0 15.34 72696 chr4 1803251 1803251 T C rs2305181 FGFR3 Synonymous SNV I201I 0.016 0.003 0.024 8 19 1 0.021 7 0 0 0 0 Benign 0.182 72697 chr4 1807478 1807478 G T rs3135897 FGFR3 Synonymous SNV G437G 0.014 0.021 0.017 11 17 8 0.028 5 0 0 0 0 Benign 8.91 72698 chr4 95173928 95173928 C T rs139839410 SMARCAD1 Nonsynonymous SNV P351S 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 7.817 72699 chr18 74270181 74270181 C T rs11876259 LINC00908 0 0 0.003 0 0 0 0 1 0 0 0 0 6.019 72700 chr17 7912895 7912895 C G GUCY2D Synonymous SNV A580A 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 12.75 72701 chr5 145895608 145895608 A C rs144066680 GPR151 Nonsynonymous SNV F23L 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 25 72702 chr5 38406251 38406251 C T rs113400125 EGFLAM Nonsynonymous SNV R12C 0.022 0.029 0.007 12 26 11 0.031 2 0 0 0 0 21.5 72703 chr4 185045402 185045402 C T rs373178695 ENPP6 Nonsynonymous SNV V149I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.19 72704 chr5 38919038 38919038 C G rs774909812 OSMR Nonsynonymous SNV P487A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.088 72705 chr4 39408762 39408762 C G rs34905034 KLB Nonsynonymous SNV P65A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.082 72706 chr5 71615991 71615991 G A MRPS27 Stop gain Q20X 0 0.003 0 0 0 1 0 0 0 0 0 0 33 72707 chr4 7716061 7716061 C T rs16840892 SORCS2 Nonsynonymous SNV T695M 0.014 0.008 0.01 7 17 3 0.018 3 0 0 0 0 11.43 72708 chr4 40099071 40099071 A G rs142810144 N4BP2 Synonymous SNV L37L 0.003 0 0 5 4 0 0.013 0 0 0 0 0 10.84 72709 chr18 8784739 8784739 G A rs114888699 MTCL1 Synonymous SNV L543L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.945 72710 chr17 8135446 8135446 G A rs3027235 CTC1 Synonymous SNV T720T 0.014 0.005 0.014 1 17 2 0.003 4 0 0 0 0 Benign/Likely benign 9.035 72711 chr5 10258512 10258512 G A rs11557649 CCT5 Synonymous SNV A191A 0.029 0.026 0.014 14 34 10 0.036 4 2 0 0 0 Benign 14.75 72712 chr4 40427990 40427990 G C rs2292039 RBM47 Synonymous SNV G502G 0.063 0.076 0.054 22 74 29 0.056 16 2 1 0 0 5.348 72713 chr5 75914164 75914164 G A F2RL2 Nonsynonymous SNV T101I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.831 72714 chr5 148389864 148389864 C T rs748413646 SH3TC2 Nonsynonymous SNV R1099H 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Uncertain significance 27.5 72715 chr5 42689037 42689037 G A rs747723725 GHR Nonsynonymous SNV R39Q 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Uncertain significance 25.4 72716 chr17 8658849 8658849 G A rs200224763 SPDYE4 Synonymous SNV F158F 0.01 0.008 0 9 12 3 0.023 0 0 0 0 0 3.271 72717 chr17 9143036 9143036 G A NTN1 Synonymous SNV K522K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.35 72718 chr5 149460355 149460355 G A rs41287102 CSF1R Synonymous SNV S94S 0.015 0.018 0.007 4 18 7 0.01 2 0 0 0 0 Benign/Likely benign 8.244 72719 chr4 46930510 46930510 C T rs115206335 GABRA4 Nonsynonymous SNV R396Q 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 0.296 72720 chr5 149515380 149515380 G A rs17708515 PDGFRB Synonymous SNV V34V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 15.91 72721 chr4 8230347 8230347 G A rs184765514 SH3TC1 Nonsynonymous SNV A900T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 72722 chr5 149546559 149546559 G A CDX1 Synonymous SNV P40P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.851 72723 chr17 10219097 10219097 C A rs72814731 MYH13 Nonsynonymous SNV E1299D 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 15.01 72724 chr4 8233879 8233879 G A rs755795530 SH3TC1 Nonsynonymous SNV E967K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 72725 chr19 1011894 1011894 G A rs73497158 TMEM259 Synonymous SNV I313I 0.02 0.016 0.017 6 24 6 0.015 5 0 0 0 0 11.95 72726 chr17 10298599 10298599 C T rs139344968 MYH8 Nonsynonymous SNV D1605N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 72727 chr5 52405741 52405741 G T rs1040781088 LOC257396 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.216 72728 chr5 112824039 112824039 - GCTGCTGCC rs775732898 MCC S24_S25insGSS 0.026 0.018 0.024 13 30 7 0.033 7 4 0 0 3 72729 chr4 8214444 8214444 G T rs11734194 SH3TC1 Synonymous SNV L12L 0.02 0.029 0.007 2 23 11 0.005 2 0 0 0 0 6.444 72730 chr19 10224580 10224580 T C rs117405797 P2RY11, PPAN-P2RY11 Synonymous SNV Y97Y 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 0.047 72731 chr17 10600564 10600564 G - rs770131276 SCO1 S88Rfs*11 0.007 0.008 0 0 8 3 0 0 0 0 0 0 72732 chr4 47945417 47945417 T C rs76061451 CNGA1 Synonymous SNV E173E 0.023 0.013 0.031 3 27 5 0.008 9 1 0 0 0 Conflicting interpretations of pathogenicity 1.185 72733 chr19 10421273 10421273 C T rs149654332 FDX2 Synonymous SNV S150S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 14 72734 chr4 8297432 8297432 G A rs780806867 HTRA3 Synonymous SNV L354L 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 12.82 72735 chr19 1043788 1043788 G A rs746671968 ABCA7 Nonsynonymous SNV G332E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 72736 chr5 118485778 118485778 G - rs763455805 DMXL1 C1419Ffs*14 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 72737 chr5 118485780 118485784 TACTC - rs773838922 DMXL1 Y1420Ifs*6 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 72738 chr5 150921969 150921969 C T rs3734053 FAT2 Nonsynonymous SNV A2907T 0.007 0.013 0.007 1 8 5 0.003 2 0 0 0 0 Likely benign 9.37 72739 chr4 54966545 54966545 A G rs145597698 GSX2 Nonsynonymous SNV I12V 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 12.66 72740 chr5 55807498 55807498 G A rs62355642 C5orf67 0.024 0.021 0.02 6 28 8 0.015 6 1 0 0 0 2.82 72741 chr19 10670499 10670499 G A rs373283507 KRI1 Nonsynonymous SNV P305L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 72742 chr4 858924 858924 G A rs35227944 GAK Nonsynonymous SNV T972M 0.009 0.005 0.003 8 11 2 0.021 1 0 0 0 0 5.746 72743 chr4 55593481 55593481 A G rs55986963 KIT Synonymous SNV K546K 0.027 0.005 0.058 16 32 2 0.041 17 0 0 0 0 Benign/Likely benign 3.116 72744 chr5 150947751 150947751 G A rs3734061 FAT2 Nonsynonymous SNV P248S 0.007 0.013 0.007 1 8 5 0.003 2 0 0 0 0 Likely benign 13.67 72745 chr17 17697093 17697093 - CAG rs587780428 RAI1 Q291_A292insQ 0.027 0.018 0.024 5 32 7 0.013 7 0 0 0 0 72746 chr5 60628774 60628774 C T rs76811816 ZSWIM6 Synonymous SNV V225V 0.011 0.01 0.003 10 13 4 0.026 1 1 0 0 0 21.2 72747 chr4 25823624 25823624 G A rs7676030 SEL1L3 Synonymous SNV P393P 0.028 0.021 0.061 27 33 8 0.069 18 0 0 1 4 11.17 72748 chr19 1093979 1093979 C A rs4921 POLR2E Synonymous SNV R52R 0.018 0.021 0.024 4 21 8 0.01 7 0 0 0 0 17.2 72749 chr5 870619 870619 A G rs1051630 BRD9 Synonymous SNV V445V 0.044 0.052 0.027 7 52 20 0.018 8 1 1 0 0 2.391 72750 chr5 126874763 126874763 G A rs138177009 PRRC1 Nonsynonymous SNV R318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 72751 chr4 88056747 88056747 T C AFF1 Nonsynonymous SNV L815P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 72752 chr4 2661342 2661342 A G rs17164077 FAM193A Nonsynonymous SNV M192V 0.008 0 0.014 3 9 0 0.008 4 0 0 0 0 4.726 72753 chr4 2702066 2702066 G C rs78288161 FAM193A Nonsynonymous SNV E1098D 0.007 0 0.01 3 8 0 0.008 3 0 0 0 0 16.03 72754 chr17 18152180 18152180 T G rs140450622 FLII Nonsynonymous SNV D596A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.2 72755 chr17 18188481 18188481 T C TOP3A Nonsynonymous SNV I523V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.68 72756 chr4 90816203 90816203 G T rs776781809 MMRN1 Nonsynonymous SNV W27C 0.004 0 0 0 5 0 0 0 0 0 0 0 24.7 72757 chr4 94006285 94006285 G A GRID2 Synonymous SNV R128R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.18 72758 chr4 94436421 94436421 C T GRID2 Synonymous SNV D589D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 72759 chr19 11795897 11795897 C G rs286298 ZNF833P 0 0 0.136 0 0 0 0 40 0 0 4 0 3.749 72760 chr4 2994013 2994013 T C rs55646607 GRK4 Synonymous SNV N79N 0.018 0.005 0.017 5 21 2 0.013 5 2 0 0 0 0.013 72761 chr19 11796869 11796869 G T rs286299 ZNF833P 0 0 0.177 0 0 0 0 52 0 0 5 0 1.861 72762 chr4 3005964 3005964 G A rs34857805 GRK4 Nonsynonymous SNV A84T 0.02 0.005 0.014 5 23 2 0.013 4 2 0 0 0 0.31 72763 chr4 94750886 94750886 G A rs373713422 ATOH1 Nonsynonymous SNV G270E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 72764 chr5 159546013 159546013 T C rs56806495 PWWP2A Nonsynonymous SNV E128G 0.041 0.044 0.037 18 48 17 0.046 11 1 0 0 0 12.67 72765 chr4 3076651 3076652 GC - rs751281707 HTT Q34Afs*48 0.026 0.042 0.02 14 30 16 0.036 6 1 0 0 0 72766 chr4 3076654 3076654 G - rs746481543 HTT Q34Hfs*67 0.01 0.016 0.003 2 12 6 0.005 1 1 0 0 0 72767 chr19 12187001 12187001 A C rs61998199 ZNF844 Nonsynonymous SNV K356Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.16 72768 chr5 132160732 132160732 A G rs771292292 SHROOM1 Synonymous SNV L338L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.935 72769 chr4 961675 961675 C G rs201409165 DGKQ Synonymous SNV A268A 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 11 72770 chr5 132161522 132161522 G A rs148841639 SHROOM1 Nonsynonymous SNV P104L 0.012 0.01 0.01 4 14 4 0.01 3 0 0 0 0 10.56 72771 chr5 132219180 132219180 C T rs145016393 AFF4 Synonymous SNV G1072G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 15.36 72772 chr5 133451652 133451652 C T rs149417339 TCF7 Synonymous SNV S8S 0.011 0.005 0.01 4 13 2 0.01 3 0 0 0 0 19.61 72773 chr5 133509715 133509715 - A rs143993786 SKP1 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 72774 chr5 101631761 101631761 T C rs76381196 SLCO4C1 Nonsynonymous SNV N69S 0.048 0.06 0.061 28 56 23 0.072 18 3 0 1 2 0.001 72775 chr4 366596 366596 A G rs2229296 ZNF141 Nonsynonymous SNV K48E 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 Benign 10.42 72776 chr4 367284 367284 A T ZNF141 Nonsynonymous SNV K277I 0.023 0.034 0.024 15 27 13 0.038 7 0 0 0 0 9.671 72777 chr19 12917597 12917597 G A rs11554405 RNASEH2A Nonsynonymous SNV G37D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.7 72778 chr4 37857332 37857332 A G rs139469063 PGM2 Nonsynonymous SNV Y569C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 72779 chr4 983612 983612 C T rs73219719 SLC26A1 Nonsynonymous SNV R372H 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Benign 12.63 72780 chr19 13031210 13031210 T C rs2967897 MIR5695 0 0 0.476 0 0 0 0 140 0 0 54 0 1.275 72781 chr4 38691483 38691483 G A rs61750339 KLF3 Synonymous SNV P226P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.63 72782 chr19 13883034 13883034 G A rs139306023 MRI1 Nonsynonymous SNV R350Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 14.48 72783 chr19 13946886 13946886 T C rs345638 LOC284454 0 0 0.51 0 0 0 0 150 0 0 75 0 0.575 72784 chr19 13993709 13993709 C T rs111386677 C19orf57 Nonsynonymous SNV R489Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 72785 chr19 14165873 14165873 C A rs185854216 PALM3 Nonsynonymous SNV S138I 0.014 0.01 0.017 2 16 4 0.005 5 0 0 0 0 Benign 16.19 72786 chr5 74325677 74325677 A G rs73765644 GCNT4 Synonymous SNV H62H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.025 72787 chr5 74325695 74325695 T C rs73765646 GCNT4 Synonymous SNV V56V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.651 72788 chr19 1468266 1468266 C T rs770760502 APC2 Nonsynonymous SNV R1655W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 72789 chr5 74931643 74931643 A G rs16872675 ANKDD1B Nonsynonymous SNV H245R 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 Benign 0.028 72790 chr5 74949043 74949043 T C rs10942740 ANKDD1B Nonsynonymous SNV V292A 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 Benign 0.084 72791 chr19 1486932 1486932 G A rs138039746 PCSK4 Nonsynonymous SNV R330C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 72792 chr19 14876483 14876483 G A rs112937438 ADGRE2 Synonymous SNV D256D 0.025 0.016 0.041 13 29 6 0.033 12 0 0 0 0 0.031 72793 chr4 40810690 40810690 C A rs200253005 NSUN7 Nonsynonymous SNV Q631K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.797 72794 chr5 75886234 75886234 A G rs148953280 IQGAP2 Synonymous SNV L164L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 72795 chr5 176082020 176082020 C T TSPAN17 Nonsynonymous SNV A128V 0 0.005 0 3 0 2 0.008 0 0 0 0 0 23.5 72796 chr4 41687749 41687749 A T rs146657546 LIMCH1 Synonymous SNV T779T 0.006 0.005 0.007 7 7 2 0.018 2 0 0 0 0 0.004 72797 chr5 176335682 176335682 A G rs115224789 UIMC1 Nonsynonymous SNV Y564H 0.001 0.008 0.003 3 1 3 0.008 1 0 0 0 0 27.7 72798 chr5 114961439 114961439 C A rs775673404 TMED7, TMED7-TICAM2 Nonsynonymous SNV W17C 0.007 0 0 5 8 0 0.013 0 0 0 0 0 32 72799 chr5 112179135 112179135 T C APC Nonsynonymous SNV I2597T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.6 72800 chr5 76729018 76729018 C T rs41272254 WDR41 Nonsynonymous SNV R441H 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 35 72801 chr5 76342447 76342447 T C rs61736982 AGGF1 Synonymous SNV Y382Y 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 0.037 72802 chr4 74719624 74719624 C G rs34446485 PF4V1 Synonymous SNV L75L 0.013 0.003 0.02 1 15 1 0.003 6 1 0 0 0 7.236 72803 chr4 438071 438071 T C rs374660586 ZNF721 Nonsynonymous SNV Q62R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.017 72804 chr5 121355909 121355909 G A rs199841908 SRFBP1 Nonsynonymous SNV R160H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.917 72805 chr6 110777768 110777768 G A rs372140051 SLC22A16 Nonsynonymous SNV S169L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 72806 chr6 11104469 11104469 C T rs55714642 ERVFRD-1 Nonsynonymous SNV A359T 0.006 0.008 0.017 1 7 3 0.003 5 0 0 0 0 11.64 72807 chr17 27237143 27237143 T C rs1008990280 PHF12 Synonymous SNV Q820Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.731 72808 chr17 27580693 27580693 G A CRYBA1 Synonymous SNV K131K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.65 72809 chr5 115822602 115822602 G A rs747674581 SEMA6A Synonymous SNV L269L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.05 72810 chr17 27939788 27939788 C T ANKRD13B Synonymous SNV F510F 0.003 0 0 0 3 0 0 0 0 0 0 0 17.65 72811 chr19 15890771 15890771 T G rs56317414 CYP4F24P 0 0 0.354 0 0 0 0 104 0 0 39 0 4.426 72812 chr19 15890777 15890777 G T rs55926517 CYP4F24P 0 0 0.313 0 0 0 0 92 0 0 35 0 1.138 72813 chr5 78612017 78612017 G A rs34067120 JMY Nonsynonymous SNV D952N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 72814 chr19 15942120 15942120 T C rs55754805 UCA1 0 0 0.058 0 0 0 0 17 0 0 7 0 0.868 72815 chr6 11213709 11213709 T A rs144118830 NEDD9 Nonsynonymous SNV Q88H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.47 72816 chr5 177573215 177573215 T C rs570300631 RMND5B Synonymous SNV C252C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.669 72817 chr5 177640034 177640034 T C rs141523394 PHYKPL Nonsynonymous SNV M374V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 72818 chr17 28381168 28381168 T C rs761183229 EFCAB5 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.88 72819 chr17 28783346 28783346 A T rs145126411 CPD Nonsynonymous SNV Q890L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.1 72820 chr5 122365037 122365037 T C rs200320290 PPIC Nonsynonymous SNV K65R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.69 72821 chr5 79732691 79732691 G A rs148793646 ZFYVE16 Nonsynonymous SNV V63I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 72822 chr5 140764290 140764290 G A PCDHGA7 Synonymous SNV L608L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.165 72823 chr5 79950708 79950708 - GCAGCGGCC MSH3 A62_P63insAAA 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 72824 chr5 140802374 140802374 G A rs199507728 PCDHGA11 Nonsynonymous SNV R527Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 6.27 72825 chr4 79294006 79294017 TGCAAGAGTAAG - rs765291607 FRAS1 C1002Tfs*71 0.006 0 0 7 7 0 0.018 0 0 0 0 0 72826 chr5 130767036 130767036 T C RAPGEF6 Synonymous SNV T1327T 0.007 0 0 4 8 0 0.01 0 0 0 0 0 0.015 72827 chr5 179264430 179264430 G A rs148611524 MRNIP Synonymous SNV D276D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.207 72828 chr5 141325096 141325096 C T rs367855715 PCDH12 Synonymous SNV A1135A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 8.262 72829 chr6 119136726 119136726 G A rs3751444 MCM9 Nonsynonymous SNV S898F 0.02 0.021 0.017 6 23 8 0.015 5 1 0 0 0 23 72830 chr5 179269011 179269011 G C rs61736195 MRNIP Synonymous SNV S60S 0.009 0.016 0.024 4 11 6 0.01 7 0 0 0 0 8.678 72831 chr5 128442741 128442741 A G rs755584032 ISOC1 Nonsynonymous SNV M246V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 72832 chr6 119345723 119345723 T C rs754129456 FAM184A Nonsynonymous SNV M19V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 14.08 72833 chr4 5664938 5664938 C T rs778170817 EVC2 Synonymous SNV P267P 0 0 0 3 0 0 0.008 0 0 0 0 0 13.47 72834 chr5 132149796 132149796 C G rs370887144 SOWAHA Synonymous SNV A161A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 13.67 72835 chr5 145197565 145197565 T C rs9324996 PRELID2 Nonsynonymous SNV N87S 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 13.16 72836 chr5 89971991 89971991 C A rs371348667 ADGRV1 Nonsynonymous SNV S1803Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 23 72837 chr5 134343766 134343766 T G rs3896260 CATSPER3 Nonsynonymous SNV N204K 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 0.002 72838 chr5 134346182 134346182 C T rs17167765 CATSPER3 Synonymous SNV Y352Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.078 72839 chr19 17439182 17439182 C T rs200489783 ANO8 Nonsynonymous SNV R672Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 17.62 72840 chr5 132097207 132097207 C T rs138928263 SEPTIN8 Nonsynonymous SNV R302H 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 28.8 72841 chr19 17516586 17516586 - T rs28413175 BISPR 0 0 0.078 0 0 0 0 23 0 0 11 0 72842 chr5 90459682 90459682 C G rs376373741 ADGRV1 Nonsynonymous SNV L6296V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.6 72843 chr5 133702208 133702208 T - CDKL3 M3Cfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 72844 chr5 2749785 2749785 C G rs61742405 IRX2 Synonymous SNV T122T 0.016 0.013 0.007 12 19 5 0.031 2 0 0 0 0 Benign 13.21 72845 chr5 148407218 148407218 C T SH3TC2 Nonsynonymous SNV V693I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.206 72846 chr19 17953913 17953913 G A rs138218812 JAK3 Synonymous SNV L163L 0 0 0.014 0 0 0 0 4 0 0 0 0 11.59 72847 chr17 35602049 35602049 G T ACACA Nonsynonymous SNV P753T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.9 72848 chr5 94620178 94620178 C T MCTP1 Synonymous SNV R34R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.02 72849 chr5 137892222 137892222 G A rs1042686 HSPA9 Synonymous SNV S627S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 14.87 72850 chr5 149435608 149435608 G C rs56327604 CSF1R Synonymous SNV L845L 0.016 0.01 0.027 6 19 4 0.015 8 0 0 0 0 Benign 9.246 72851 chr17 36493548 36493548 C T rs189931659 GPR179 Nonsynonymous SNV R320Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 72852 chr5 9629848 9629848 G A rs73743124 TAS2R1 Synonymous SNV L99L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.899 72853 chr6 132938971 132938971 A G TAAR2 Nonsynonymous SNV M80T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.71 72854 chr5 138755866 138755866 A G rs116201421 DNAJC18 Synonymous SNV P276P 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 10.98 72855 chr17 36886647 36886647 G A rs933030328 CISD3 Synonymous SNV A12A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.377 72856 chr6 132966519 132966519 A G rs143982225 TAAR1 Synonymous SNV C208C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.038 72857 chr5 138856923 138856923 C T rs140837017 TMEM173 Nonsynonymous SNV A194T 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 Benign 23.7 72858 chr5 137803155 137803155 T G rs141771089 EGR1 Synonymous SNV A339A 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 0.005 72859 chr5 150175109 150175109 C T rs61736140 SMIM3 Nonsynonymous SNV S36L 0.006 0 0.014 3 7 0 0.008 4 0 0 0 0 35 72860 chr5 139193008 139193008 C T rs573050249 PSD2 Synonymous SNV D162D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.949 72861 chr5 139217320 139217320 G C rs60035945 PSD2 Synonymous SNV V592V 0.061 0.047 0.068 24 72 18 0.062 20 1 1 1 0 8.788 72862 chr5 139227776 139227776 C T rs571696410 NRG2 Nonsynonymous SNV R694K 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 25.7 72863 chr5 36038084 36038084 G A rs72742496 UGT3A2 Synonymous SNV G336G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.543 72864 chr6 139189250 139189250 G A ECT2L Nonsynonymous SNV M495I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.2 72865 chr19 18710416 18710416 C T rs146027258 CRLF1 Nonsynonymous SNV R119H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.74 72866 chr17 38449759 38449759 A G rs4135010 CDC6 Nonsynonymous SNV T238A 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 72867 chr6 139266402 139266402 G A rs1569238 REPS1 Synonymous SNV L194L 0.025 0.034 0.014 14 29 13 0.036 4 0 0 0 0 13.97 72868 chr17 38556799 38556799 G A rs61749876 TOP2A Synonymous SNV P927P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 12.88 72869 chr17 38643441 38643441 C T rs144692706 TNS4 Nonsynonymous SNV G379S 0.006 0.016 0.003 6 7 6 0.015 1 0 0 0 0 Benign 26.7 72870 chr5 39376840 39376840 G A rs61742957 DAB2 Synonymous SNV A662A 0.021 0.029 0.041 6 25 11 0.015 12 0 1 0 0 12.35 72871 chr17 38711222 38711222 T C rs2229095 CCR7 Synonymous SNV Q240Q 0.009 0.018 0.017 4 10 7 0.01 5 0 0 1 0 0.003 72872 chr5 39376858 39376858 C A rs61744160 DAB2 Synonymous SNV G656G 0.021 0.029 0.041 6 25 11 0.015 12 0 1 0 0 16 72873 chr5 39383257 39383257 T C rs34507990 DAB2 Synonymous SNV P247P 0.02 0.029 0.041 6 24 11 0.015 12 0 1 0 0 0.467 72874 chr5 39394408 39394408 T C rs34529705 DAB2 Synonymous SNV V5V 0.02 0.029 0.037 6 23 11 0.015 11 0 0 0 0 0.117 72875 chr19 19416870 19416870 G A rs558513662 SUGP1 Nonsynonymous SNV A109V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.409 72876 chr4 71255423 71255423 G A rs201614206 SMR3B Nonsynonymous SNV G33E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.609 72877 chr4 71468346 71468348 AGG - rs141384720 AMBN G180del 0.029 0.036 0.088 15 34 14 0.038 26 8 3 2 1 72878 chr19 1953966 1953966 C - rs143691008 CSNK1G2-AS1 0 0 0.031 0 0 0 0 9 0 0 1 0 72879 chr6 143092754 143092754 G A rs34875559 HIVEP2 Nonsynonymous SNV A1041V 0.02 0.042 0.041 7 24 16 0.018 12 0 0 0 1 22 72880 chr4 951982 951982 C G rs75307864 TMEM175 Nonsynonymous SNV L323V 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 23.3 72881 chr19 20026163 20026163 G C rs150804499 ZNF93 Synonymous SNV R26R 0.016 0.013 0.054 12 19 5 0.031 16 0 0 1 0 2.004 72882 chr17 38990841 38990841 G C rs181341765 TMEM99 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.158 72883 chr6 109940428 109940428 A G rs545311766 AK9 Synonymous SNV Y422Y 0.007 0.008 0 0 8 3 0 0 0 0 0 0 0.293 72884 chr19 20308301 20308301 G C rs113493829 ZNF486 Nonsynonymous SNV S261T 0.049 0.076 0.041 18 57 29 0.046 12 1 0 1 0 0.004 72885 chr19 20308644 20308644 G T rs189646827 ZNF486 Nonsynonymous SNV E375D 0.012 0.01 0.024 7 14 4 0.018 7 1 0 0 0 19.39 72886 chr5 41160293 41160293 A G rs62361567 C6 Synonymous SNV S545S 0.026 0.026 0.024 8 30 10 0.021 7 0 0 0 0 0.011 72887 chr4 72897836 72897836 G A rs201021581 NPFFR2 Nonsynonymous SNV S73N 0.008 0.016 0.003 4 9 6 0.01 1 0 0 0 0 1.529 72888 chr5 154135652 154135652 G A rs191985333 LARP1 Nonsynonymous SNV G112E 0.017 0.026 0.01 13 20 10 0.033 3 0 0 0 0 13.38 72889 chr5 140735521 140735521 C T rs748883538 PCDHGA4 Nonsynonymous SNV R283C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 72890 chr6 149997800 149997800 G A rs750873354 LATS1 Synonymous SNV D609D 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 4.64 72891 chr6 11191434 11191434 T C rs34044517 NEDD9 Nonsynonymous SNV Y74C 0.021 0.023 0.014 15 25 9 0.038 4 1 1 0 0 23.6 72892 chr5 50117159 50117159 C T rs778788248 PARP8 Nonsynonymous SNV A573V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 35 72893 chr5 140553289 140553289 G T rs782276991 PCDHB7 Synonymous SNV T291T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.096 72894 chr4 7677935 7677935 C T rs562144942 SORCS2 Synonymous SNV S440S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 12.35 72895 chr19 22154457 22154457 T C rs181390472 ZNF208 Nonsynonymous SNV I1127V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 72896 chr19 22154914 22154914 T C rs186085304 ZNF208 Synonymous SNV K974K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.005 72897 chr5 156899729 156899729 G A NIPAL4 Nonsynonymous SNV A369T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.547 72898 chr19 22817278 22817278 T - rs370410008 ZNF492 0 0 0.235 0 0 0 0 69 0 0 13 0 72899 chr4 77651976 77651976 C T rs746778402 SHROOM3 Stop gain R159X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 40 72900 chr6 116600895 116600895 G A rs61746509 TSPYL1 Synonymous SNV Y33Y 0.013 0.029 0 7 15 11 0.018 0 0 0 0 0 Benign 1.397 72901 chr5 141334913 141334913 G A rs764245491 PCDH12 Nonsynonymous SNV P835L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.989 72902 chr5 160061495 160061495 C T rs202189871 ATP10B Nonsynonymous SNV R388Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 34 72903 chr6 152614868 152614868 C T rs80265744 SYNE1 Nonsynonymous SNV R5885H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 72904 chr5 162869068 162869068 G T rs918530 CCNG1 Nonsynonymous SNV L71F 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 19.39 72905 chr19 2408486 2408486 T C rs62120712 TMPRSS9 Synonymous SNV F291F 0.027 0.057 0.017 14 32 22 0.036 5 1 0 0 0 0.413 72906 chr19 2408495 2408495 T G rs62120713 TMPRSS9 Synonymous SNV A294A 0.027 0.057 0.017 14 32 22 0.036 5 1 0 0 0 2.035 72907 chr19 2408530 2408530 G A rs62120714 TMPRSS9 Nonsynonymous SNV R306Q 0.027 0.055 0.017 13 32 21 0.033 5 1 0 0 0 23.3 72908 chr19 2415801 2415801 G A rs61732208 TMPRSS9 Synonymous SNV G535G 0.03 0.052 0.017 14 35 20 0.036 5 1 0 0 0 5.758 72909 chr19 2418031 2418031 C T rs11084939 TMPRSS9 Synonymous SNV S649S 0.03 0.055 0.017 13 35 21 0.033 5 0 0 0 0 12.79 72910 chr19 2422177 2422177 G A rs735911 TMPRSS9 Nonsynonymous SNV S793N 0.026 0.052 0.017 12 31 20 0.031 5 1 0 0 0 0.006 72911 chr19 2425196 2425196 G A rs7247162 TMPRSS9 Nonsynonymous SNV E938K 0.026 0.052 0.017 12 31 20 0.031 5 1 0 0 0 12.06 72912 chr19 2427266 2427266 G A rs968688 TIMM13 Synonymous SNV D59D 0.026 0.052 0.014 12 31 20 0.031 4 1 0 0 0 9.573 72913 chr19 2765201 2765201 G A rs776862700 SGTA Synonymous SNV A125A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.46 72914 chr5 145583334 145583334 C T RBM27 Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 72915 chr5 54649046 54649046 A G rs141523339 MTREX Synonymous SNV R494R 0.016 0.01 0.003 2 19 4 0.005 1 0 0 0 0 5.605 72916 chr6 117900072 117900072 C T rs41302045 GOPC Synonymous SNV K147K 0.013 0.021 0.014 4 15 8 0.01 4 0 0 0 0 15.5 72917 chr4 79418016 79418016 T C rs369953738 FRAS1 Nonsynonymous SNV F3006L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 72918 chr5 147040532 147040532 C T rs137901945 JAKMIP2 Synonymous SNV S160S 0.01 0.013 0.031 3 12 5 0.008 9 0 0 0 0 15.72 72919 chr19 33095313 33095313 G A rs45538631 ANKRD27 Synonymous SNV N837N 0.012 0.005 0.031 7 14 2 0.018 9 0 0 0 0 1.095 72920 chr19 33099277 33099277 T C rs2868153 SNORA68B 0 0 0.5 0 0 0 0 147 0 0 59 0 1.407 72921 chr19 33099305 33099305 T C rs2868154 SNORA68B 0 0 0.503 0 0 0 0 148 0 0 58 0 2.066 72922 chr19 33099336 33099336 A G rs7258024 SNORA68B 0 0 0.49 0 0 0 0 144 0 0 58 0 5.741 72923 chr6 158487570 158487570 C T rs61748682 SYNJ2 Synonymous SNV N303N 0.031 0.036 0.014 6 36 14 0.015 4 1 0 0 0 15.68 72924 chr6 159331147 159331147 C T rs547906908 C6orf99 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 17.63 72925 chr6 129687396 129687396 G A rs117781224 LAMA2 Nonsynonymous SNV G1584S 0.023 0.021 0.027 15 27 8 0.038 8 0 0 0 0 Benign/Likely benign 21.1 72926 chr4 8376835 8376835 C G rs60183225 ACOX3 Synonymous SNV T566T 0.02 0.026 0.017 9 23 10 0.023 5 0 0 0 0 Benign 4.466 72927 chr19 33465099 33465099 C T rs36017455 FAAP24 Nonsynonymous SNV S31F 0.01 0.01 0.014 11 12 4 0.028 4 0 0 0 0 Benign 25.8 72928 chr6 127767607 127767607 A - rs769230443 KIAA0408 V620Cfs*7 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 72929 chr5 149283238 149283238 C T rs142259966 PDE6A Synonymous SNV A362A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.97 72930 chr5 64859665 64859665 A G PPWD1 Synonymous SNV L35L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 4.425 72931 chr4 83970372 83970372 T A rs552965924 COPS4 Nonsynonymous SNV C70S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.39 72932 chr6 131962617 131962617 T A rs961724611 ENPP3 Nonsynonymous SNV I34N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.4 72933 chr6 160469510 160469510 C G rs8191808 IGF2R Nonsynonymous SNV L817V 0.02 0.016 0.027 6 24 6 0.015 8 2 0 0 0 Benign 24.1 72934 chr6 160484567 160484567 A G rs375156596 IGF2R Nonsynonymous SNV K1264R 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 8.08 72935 chr4 8453746 8453746 A G rs61738667 TRMT44 Synonymous SNV A97A 0.046 0.047 0.024 16 54 18 0.041 7 3 1 0 0 2.374 72936 chr5 126161690 126161690 C T rs36105360 LMNB1 Nonsynonymous SNV A291V 0.018 0.016 0.017 3 21 6 0.008 5 0 0 0 0 Likely benign 27.5 72937 chr17 40940310 40940310 A G WNK4 Nonsynonymous SNV Y306C 0.003 0 0 0 3 0 0 0 0 0 0 0 17.35 72938 chr17 41002357 41002357 G A rs746979351 AOC2 Nonsynonymous SNV G728S 0.003 0 0 0 3 0 0 0 0 0 0 0 28.1 72939 chr19 35550206 35550206 C T rs11669751 HPN-AS1 0 0 0.034 0 0 0 0 10 0 0 5 0 3.562 72940 chr19 35550241 35550241 T C rs8103570 HPN-AS1 0 0 0.418 0 0 0 0 123 0 0 59 0 0.986 72941 chr19 35565726 35565726 T C rs11882294 HPN-AS1 0 0 0.112 0 0 0 0 33 0 0 16 0 3.492 72942 chr5 128362830 128362830 A G rs2304578 SLC27A6 Synonymous SNV E420E 0.019 0.021 0.02 3 22 8 0.008 6 0 0 1 0 6.463 72943 chr6 134210805 134210805 C T rs3777890 TCF21 Synonymous SNV A90A 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 Benign 16.49 72944 chr6 134583160 134583160 G C rs17063587 SGK1 Nonsynonymous SNV Q66E 0.008 0.013 0.003 3 9 5 0.008 1 0 0 0 0 19.53 72945 chr5 70856060 70856060 T G BDP1 Nonsynonymous SNV S2498A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 72946 chr17 41981836 41981836 G T rs773089764 MPP2 Nonsynonymous SNV S43Y 0.003 0 0 0 3 0 0 0 0 0 0 0 7.058 72947 chr4 870369 870369 T G GAK Nonsynonymous SNV Q589P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.5 72948 chr4 87728887 87728887 T C rs879306260 PTPN13 Nonsynonymous SNV M2116T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.6 72949 chr5 131534591 131534591 G A rs375706681 P4HA2 Nonsynonymous SNV P370L 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 31 72950 chr5 71494084 71494084 C T rs34984533 MAP1B Synonymous SNV P1508P 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 Benign 11.09 72951 chr5 71494208 71494208 G A rs149740474 MAP1B Nonsynonymous SNV V1550M 0.003 0.005 0.014 1 3 2 0.003 4 0 0 0 0 Likely benign 0.002 72952 chr19 35761389 35761389 G C rs892470977 USF2 Nonsynonymous SNV A90P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 72953 chr6 162683724 162683724 G T rs55774500 PRKN Nonsynonymous SNV A82E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.029 72954 chr17 42268255 42268255 G C rs2285953 TMUB2 0.03 0.013 0.02 7 35 5 0.018 6 1 0 0 1 18.52 72955 chr17 42338945 42338945 T C rs5036 SLC4A1 Nonsynonymous SNV K56E 0.026 0.016 0.02 3 30 6 0.008 6 0 0 0 0 Benign/Likely benign 0.073 72956 chr6 165715367 165715367 T C rs774683882 C6orf118 Synonymous SNV P148P 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 0.048 72957 chr19 3613027 3613039 CACCCCCTGGCCT - rs780420995 CACTIN-AS1 0.001 0 0.017 0 1 0 0 5 0 0 0 0 72958 chr17 42433874 42433874 C T rs116854865 FAM171A2 Synonymous SNV A174A 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 17.66 72959 chr4 89378610 89378610 G A rs777785079 HERC5 Nonsynonymous SNV A64T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 72960 chr6 138754056 138754056 C T rs150185209 NHSL1 Nonsynonymous SNV A480T 0.021 0.026 0.003 20 25 10 0.051 1 0 0 0 1 0.233 72961 chr19 36278477 36278477 A T ARHGAP33 Nonsynonymous SNV R1004W 0 0 0.003 0 0 0 0 1 0 0 0 0 24 72962 chr19 36278766 36278766 C T rs139992316 ARHGAP33 Nonsynonymous SNV P936L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.39 72963 chr6 167753788 167753788 G A rs148797490 TTLL2 Nonsynonymous SNV E134K 0.014 0.003 0.007 2 16 1 0.005 2 0 0 0 0 17.96 72964 chr19 3633473 3633473 C T rs35014191 PIP5K1C Nonsynonymous SNV A656T 0.016 0.016 0.02 7 19 6 0.018 6 0 0 0 0 Benign 22.3 72965 chr6 168311805 168311805 G A rs35475678 AFDN Synonymous SNV E582E 0.02 0.023 0.02 5 23 9 0.013 6 0 0 0 0 9.546 72966 chr5 154203082 154203082 A G rs144734634 FAXDC2 Nonsynonymous SNV M146T 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 21.5 72967 chr5 154203121 154203121 C T rs17641488 FAXDC2 Nonsynonymous SNV R133H 0.082 0.063 0.095 15 96 24 0.038 28 4 0 2 0 14.99 72968 chr19 3637456 3637456 C T rs150414663 PIP5K1C Synonymous SNV P692P 0.009 0.005 0.02 4 11 2 0.01 6 0 0 0 0 0.639 72969 chr5 137548988 137548988 G A rs76907133 CDC23 Nonsynonymous SNV T5I 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 19.4 72970 chr5 74464864 74464864 A G rs77974311 ANKRD31 Synonymous SNV N549N 0.012 0.013 0.02 3 14 5 0.008 6 0 0 1 0 1.816 72971 chr5 74998598 74998598 G A rs35130836 POC5 Synonymous SNV H90H 0.082 0.068 0.082 28 96 26 0.072 24 6 2 1 1 0.176 72972 chr5 156727773 156727773 C T rs375762537 CYFIP2 Synonymous SNV A120A 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Benign 13.48 72973 chr5 138728130 138728130 T C PROB1 Nonsynonymous SNV K881E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.2 72974 chr5 180582043 180582043 C T rs17617270 OR2V2 Nonsynonymous SNV A34V 0.049 0.031 0.017 23 58 12 0.059 5 1 2 0 0 0.016 72975 chr6 150057622 150057622 C G NUP43 Nonsynonymous SNV A259P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 72976 chr5 76349900 76349900 T C rs6865460 AGGF1 Synonymous SNV C526C 0.013 0.021 0.037 3 15 8 0.008 11 0 0 0 0 4.807 72977 chr5 156991445 156991445 G A rs61753548 ADAM19 Nonsynonymous SNV L63F 0.009 0.008 0.017 1 10 3 0.003 5 0 0 1 0 18.07 72978 chr5 139743976 139743976 C T SLC4A9 Nonsynonymous SNV R462C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.9 72979 chr17 48191419 48191419 C A rs957986569 SAMD14 Nonsynonymous SNV V323F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 72980 chr19 3750660 3750660 G A rs766669415 TJP3 Stop gain W913X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 72981 chr5 31526371 31526371 T C rs61748191 DROSHA Synonymous SNV E223E 0.037 0.047 0.031 15 44 18 0.038 9 2 0 0 0 0.792 72982 chr5 161529631 161529631 G T rs41311629 GABRG2 Nonsynonymous SNV G235C 0.071 0.063 0.044 25 83 24 0.064 13 3 3 3 1 Benign 0.406 72983 chr5 33683179 33683179 T C rs754297398 ADAMTS12 Nonsynonymous SNV I287V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 72984 chr5 79025503 79025503 C T rs76977444 CMYA5 Synonymous SNV G305G 0.023 0.01 0.017 10 27 4 0.026 5 1 0 0 0 Benign 5.366 72985 chr5 79025592 79025592 C T rs114648445 CMYA5 Nonsynonymous SNV T335I 0.012 0.005 0.007 1 14 2 0.003 2 0 0 0 0 Likely benign 14.35 72986 chr5 112175617 112175617 T A rs67622085 APC Synonymous SNV P1424P 0.012 0.013 0.007 3 14 5 0.008 2 0 0 0 0 Benign/Likely benign 3.889 72987 chr5 169111233 169111233 C T rs150969388 DOCK2 Nonsynonymous SNV R214W 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 Benign 35 72988 chr17 48750447 48750447 C T rs376760018 ABCC3 Nonsynonymous SNV A786V 0.003 0 0 0 3 0 0 0 0 0 0 0 33 72989 chr17 48752995 48752995 G A rs34590740 ABCC3 Synonymous SNV Q906Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.095 72990 chr5 171752323 171752323 C T SH3PXD2B Nonsynonymous SNV R417Q 0.004 0 0 0 5 0 0 0 0 0 0 0 8.427 72991 chr5 35037139 35037139 C G rs16870794 AGXT2 Nonsynonymous SNV G132R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.29 72992 chr19 38380700 38380700 A G rs758520294 WDR87 Nonsynonymous SNV I1204T 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.018 72993 chr5 140855813 140855813 G A rs146372628 PCDHGC3 Nonsynonymous SNV G44S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 28.1 72994 chr5 113698631 113698631 - GCCGCC KCNN2 A270_V271insAA 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 72995 chr19 38882864 38882866 CCT - rs151129136 SPRED3 S128del 0 0 0.003 2 0 0 0.005 1 0 0 0 0 72996 chr5 169309629 169309629 G A rs979354875 INSYN2B Nonsynonymous SNV S425L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 72997 chr6 152694190 152694190 T C rs35379711 SYNE1 Synonymous SNV Q3170Q 0.009 0.01 0 4 11 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.267 72998 chr6 26225712 26225712 G A rs113937141 HIST1H3E Synonymous SNV L110L 0.022 0.029 0.02 12 26 11 0.031 6 0 0 0 0 8.139 72999 chr19 38979907 38979907 G A rs777733662 RYR1 Nonsynonymous SNV E1880K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.43 73000 chr5 141974876 141974876 G T FGF1 Synonymous SNV P149P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.171 73001 chr6 26370616 26370616 G C rs9379861 BTN3A2 Nonsynonymous SNV R167T 0.031 0.031 0.051 12 36 12 0.031 15 0 0 2 1 0.001 73002 chr19 39034051 39034051 T A rs45613041 RYR1 Synonymous SNV T3913T 0.009 0.016 0.01 4 11 6 0.01 3 0 0 0 0 Benign 13.82 73003 chr19 39086604 39086604 T C rs55922338 MAP4K1 Synonymous SNV E718E 0.012 0.013 0.017 5 14 5 0.013 5 0 0 0 0 2.582 73004 chr5 120022309 120022309 A T rs141384895 PRR16 Nonsynonymous SNV S274C 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 24.8 73005 chr5 172573948 172573948 G A rs144179275 BNIP1 Nonsynonymous SNV R55H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 25.8 73006 chr6 26463692 26463692 G A rs138727076 BTN2A1 Nonsynonymous SNV M156I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.187 73007 chr5 1217045 1217045 C T rs138438258 SLC6A19 Synonymous SNV N386N 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 Likely benign 15.36 73008 chr6 27279877 27279877 T C rs11965377 POM121L2 Nonsynonymous SNV R25G 0.024 0.018 0.024 7 28 7 0.018 7 0 0 1 0 3.409 73009 chr19 39847644 39847644 G A rs888483610 SAMD4B Synonymous SNV Q37Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.678 73010 chr6 155761246 155761246 G T rs3749930 NOX3 Nonsynonymous SNV T171K 0.039 0.044 0.037 20 46 17 0.051 11 1 0 0 1 23.4 73011 chr5 40958311 40958311 G A rs773940240 C7 Synonymous SNV P479P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.11 73012 chr19 39912757 39912757 C T rs568493225 PLEKHG2 Synonymous SNV H443H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.034 73013 chr6 27806769 27806769 C T rs144906486 H2BC15 Synonymous SNV H110H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.82 73014 chr6 27833342 27833342 C T rs11966705 HIST1H2AL Synonymous SNV A70A 0.013 0.018 0.027 9 15 7 0.023 8 0 0 1 0 16.16 73015 chr6 27834877 27834877 T C rs11970638 HIST1H1B Nonsynonymous SNV K144R 0.013 0.018 0.027 9 15 7 0.023 8 0 0 1 0 12 73016 chr6 28219695 28219695 G A rs62638680 ZKSCAN4 Nonsynonymous SNV L22F 0.023 0.018 0.027 9 27 7 0.023 8 0 0 1 0 20.5 73017 chr17 59871075 59871075 G A rs730881640 BRIP1 Synonymous SNV N452N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 11.12 73018 chr5 82841445 82841445 T C rs773830482 VCAN Nonsynonymous SNV Y378H 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 27.1 73019 chr5 86708510 86708510 G T rs138974357 CCNH Synonymous SNV A34A 0.007 0.018 0.003 1 8 7 0.003 1 0 0 0 0 12.81 73020 chr19 40480456 40480456 G A rs34344223 PSMC4 Synonymous SNV A165A 0.005 0.005 0.024 10 6 2 0.026 7 0 0 0 0 7.985 73021 chr19 408148 408148 A G rs765005198 C2CD4C Nonsynonymous SNV S72P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 73022 chr5 43613046 43613046 A G rs35201656 NNT Nonsynonymous SNV K63R 0.046 0.029 0.031 21 54 11 0.054 9 2 0 0 0 12.7 73023 chr5 176931331 176931331 C T rs144893874 DOK3 Nonsynonymous SNV A326T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 73024 chr5 43653243 43653243 C T rs41271083 NNT Nonsynonymous SNV L532F 0.043 0.029 0.031 22 50 11 0.056 9 2 0 0 0 23.7 73025 chr5 131008265 131008265 G A rs753956386 FNIP1 Synonymous SNV N596N 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 0.005 73026 chr17 62018764 62018764 C T rs374337084 SCN4A Synonymous SNV K1626K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.29 73027 chr5 179331789 179331789 C T rs147600483 TBC1D9B Nonsynonymous SNV V48M 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 34 73028 chr17 62026786 62026786 C T rs369128679 SCN4A Nonsynonymous SNV E986K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.4 73029 chr19 41173866 41173868 TGC - rs201081747 NUMBL Q405del 0.018 0.008 0.01 6 21 3 0.015 3 0 0 0 0 73030 chr19 41209689 41209689 G A rs4803357 COQ8B Synonymous SNV A175A 0.02 0.008 0.031 6 23 3 0.015 9 0 0 0 0 Benign 15.45 73031 chr5 149212510 149212510 C G PPARGC1B Nonsynonymous SNV R253G 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 31 73032 chr19 41220029 41220029 G A rs11538384 COQ8B Nonsynonymous SNV R78C 0.02 0.008 0.027 6 23 3 0.015 8 0 0 0 0 Benign 34 73033 chr5 178154086 178154086 C T rs142465132 ZNF354A Nonsynonymous SNV R25Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.76 73034 chr19 41754430 41754430 G A rs35538872 AXL Nonsynonymous SNV G249S 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 Likely benign 33 73035 chr5 52347366 52347366 A C rs61737774 ITGA2 Synonymous SNV T252T 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign/Likely benign 0.468 73036 chr6 161781201 161781201 G A rs55830907 PRKN Nonsynonymous SNV R253C 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 73037 chr5 180551989 180551989 - A rs757655532 OR2V1 Frameshift insertion V106Cfs*7 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 73038 chr5 180651383 180651383 C T rs61758103 TRIM41 Synonymous SNV D128D 0.034 0.029 0.017 21 40 11 0.054 5 2 0 0 0 6.84 73039 chr6 161470614 161470614 G T rs146790152 MAP3K4 Nonsynonymous SNV G437V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 73040 chr5 180674152 180674152 C T rs115630832 CTC-338M12.4 0.034 0.034 0.014 17 40 13 0.044 4 1 0 0 0 9.976 73041 chr6 161653235 161653235 G A rs115239818 AGPAT4 Nonsynonymous SNV A4V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 73042 chr17 67149666 67149666 G A rs146959347 ABCA10 Synonymous SNV L1329L 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 0.229 73043 chr6 36683423 36683423 C T rs746538686 RAB44 Nonsynonymous SNV L163F 0 0.005 0 2 0 2 0.005 0 0 0 0 0 8.223 73044 chr19 42795472 42795472 C T rs45596843 CIC Nonsynonymous SNV A851V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.021 73045 chr5 13780991 13780991 C T rs111995400 DNAH5 Synonymous SNV T2966T 0.036 0.034 0.041 14 42 13 0.036 12 0 0 0 0 Benign/Likely benign 18.23 73046 chr6 168430348 168430348 A T rs4708626 KIF25 Nonsynonymous SNV K28M 0.028 0.036 0 18 33 14 0.046 0 0 0 0 0 0.029 73047 chr19 43983697 43983697 G A rs536006268 PHLDB3 Nonsynonymous SNV R512W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 73048 chr5 31435971 31435971 G A rs17485810 DROSHA Synonymous SNV S944S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.67 73049 chr17 71346513 71346513 C T rs35317925 SDK2 Synonymous SNV G1967G 0.016 0.026 0.031 7 19 10 0.018 9 1 0 0 0 3.935 73050 chr19 44169497 44169497 C T rs150986089 PLAUR Nonsynonymous SNV G94E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.174 73051 chr5 653145 653145 C G rs62000998 CEP72 Nonsynonymous SNV S607R 0.009 0.008 0.034 3 10 3 0.008 10 0 0 1 0 14.58 73052 chr5 153433165 153433165 T C rs374661518 MFAP3 Synonymous SNV I181I 0.006 0.008 0 0 7 3 0 0 0 0 0 0 0.127 73053 chr6 101086493 101086493 T A ASCC3 Nonsynonymous SNV K1369I 0 0.008 0 2 0 3 0.005 0 0 0 0 0 22.6 73054 chr6 38875752 38875752 A G rs4452640 DNAH8 Synonymous SNV R2906R 0.03 0.042 0.017 11 35 16 0.028 5 2 2 0 0 9.595 73055 chr5 6633072 6633072 A G rs184594943 NSUN2 Synonymous SNV G7G 0.014 0.018 0 1 17 7 0.003 0 1 0 0 0 Benign 19.49 73056 chr5 154305501 154305501 C T rs138495755 GEMIN5 Nonsynonymous SNV R404H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 35 73057 chr6 106536253 106536253 G A rs2185379 PRDM1 Nonsynonymous SNV G74S 0.027 0.018 0.041 12 32 7 0.031 12 2 0 0 0 not provided 0.059 73058 chr5 6753013 6753013 C T rs28381429 TENT4A Synonymous SNV L683L 0.034 0.049 0.017 11 40 19 0.028 5 0 0 0 0 14.91 73059 chr5 68651542 68651542 C T rs560641299 AK6 Nonsynonymous SNV R84H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 73060 chr17 72368467 72368467 C T rs142966948 GPR142 Nonsynonymous SNV R285W 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.7 73061 chr6 170871054 170871058 AGCAG ACAG TBP Q57Hfs*67 0.012 0.008 0 3 14 3 0.008 0 0 0 0 0 73062 chr17 72862613 72862613 G A rs7223627 FDXR Synonymous SNV D64D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.38 73063 chr6 170871055 170871058 GCAG - rs775626005 TBP Q57Hfs*66 0.065 0.049 0.027 22 76 19 0.056 8 2 1 2 1 73064 chr17 72874562 72874562 C T rs369274979 FADS6 Synonymous SNV P317P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.8 73065 chr6 17764793 17764793 C T rs41267710 KIF13A Nonsynonymous SNV E1608K 0.009 0.01 0.01 3 11 4 0.008 3 0 0 0 0 23.3 73066 chr6 17601334 17601334 G A FAM8A1 Nonsynonymous SNV E232K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 73067 chr6 18171661 18171661 A C rs149734475 KDM1B Nonsynonymous SNV Q162P 0.007 0.013 0.01 2 8 5 0.005 3 0 0 0 0 23.6 73068 chr5 163020 163020 C T rs372333554 PLEKHG4B Synonymous SNV L945L 0.001 0.01 0 0 1 4 0 0 0 0 0 0 7.294 73069 chr17 73144665 73144665 C A rs117208625 JPT1 Nonsynonymous SNV G53V 0.009 0 0 1 10 0 0.003 0 0 0 0 0 31 73070 chr5 16681534 16681534 T C rs779527693 MYO10 Nonsynonymous SNV H1423R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 73071 chr6 18122066 18122066 G T NHLRC1 Nonsynonymous SNV Q258K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.281 73072 chr17 73237124 73237124 T C rs146877619 GGA3 Nonsynonymous SNV S199G 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.191 73073 chr6 20402833 20402833 - GCG rs781324605 E2F3 G129_P130insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 73074 chr17 73239557 73239557 T C rs117805695 GGA3 Nonsynonymous SNV K10R 0.008 0 0 2 9 0 0.005 0 0 0 0 0 15.79 73075 chr6 24178840 24178840 G A rs143313706 DCDC2 Synonymous SNV D348D 0.006 0.016 0.007 0 7 6 0 2 0 0 0 0 Benign/Likely benign 9.949 73076 chr5 37153871 37153871 G T rs77014998 CPLANE1 Nonsynonymous SNV P2728T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 0.069 73077 chr17 73264175 73264175 C T rs374776170 MIF4GD Nonsynonymous SNV A61T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 73078 chr6 20649552 20649552 C T rs9465854 CDKAL1 Synonymous SNV L105L 0.004 0.003 0.014 0 5 1 0 4 0 0 1 0 15.55 73079 chr5 73205697 73205697 C G rs78992879 ARHGEF28 Nonsynonymous SNV A1228G 0.045 0.034 0.024 18 53 13 0.046 7 2 0 1 0 Benign 19.4 73080 chr5 73205717 73205717 C T rs17634865 ARHGEF28 Nonsynonymous SNV P1235S 0.044 0.034 0.02 19 52 13 0.049 6 2 0 1 0 Benign 0.059 73081 chr6 43006016 43006016 G T rs147493246 CUL7 Nonsynonymous SNV L1672I 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Benign 32 73082 chr6 43044640 43044640 G A rs139636574 PTK7 Nonsynonymous SNV G7R 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 1.617 73083 chr6 43100268 43100268 G A rs754259650 PTK7 Synonymous SNV E365E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.931 73084 chr5 74647015 74647015 C T rs774131030 HMGCR Nonsynonymous SNV T355I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.9 73085 chr6 43139889 43139889 G A rs776714858 SRF Synonymous SNV K165K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.599 73086 chr5 141023997 141023997 C T rs61753290 FCHSD1 Nonsynonymous SNV A551T 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 33 73087 chr5 173426709 173426709 G T rs56138314 C5orf47 Nonsynonymous SNV V140L 0.037 0.044 0.024 24 44 17 0.062 7 1 0 0 0 23.7 73088 chr5 174869045 174869045 G A rs144813919 DRD1 Nonsynonymous SNV A353V 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 1.459 73089 chr5 49724058 49724058 G A rs147510643 EMB Nonsynonymous SNV S39L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 23.7 73090 chr17 74383648 74383648 C T rs56341546 SPHK1 Nonsynonymous SNV P379L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 14.63 73091 chr6 26446177 26446177 C A rs781128072 BTN3A3 Nonsynonymous SNV L227I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 73092 chr5 176048218 176048218 G C rs149810240 SNCB Synonymous SNV P109P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.017 73093 chr6 12124751 12124751 T G rs773649270 HIVEP1 Nonsynonymous SNV S1575A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.91 73094 chr6 46856105 46856105 T C rs143107263 ADGRF5 Nonsynonymous SNV I99V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 73095 chr5 176813246 176813246 G A rs145798898 SLC34A1 Nonsynonymous SNV R95H 0.008 0 0.014 1 9 0 0.003 4 0 0 0 0 Benign/Likely benign 6.461 73096 chr6 26468319 26468319 C T rs3734541 BTN2A1 Synonymous SNV L315L 0.022 0.026 0.034 5 26 10 0.013 10 0 0 1 0 7.616 73097 chr5 146258290 146258290 - GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSSSSSS 0.006 0 0 2 7 0 0.005 0 0 0 0 0 73098 chr5 146795329 146795329 T C rs147541241 DPYSL3 Nonsynonymous SNV I255V 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 11.8 73099 chr5 5303424 5303424 G A rs34586473 ADAMTS16 Nonsynonymous SNV G945R 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 22.5 73100 chr6 27277503 27277503 G A rs149420312 POM121L2 Nonsynonymous SNV A816V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 73101 chr17 76481693 76481693 C A DNAH17 Synonymous SNV T2474T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 73102 chr5 54527533 54527533 C T rs777719468 CCNO Synonymous SNV T241T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 18.32 73103 chr6 27419799 27419799 A G rs375263155 ZNF184 Synonymous SNV Y513Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 73104 chr5 54563534 54563534 C T rs61757584 DHX29 Synonymous SNV T1086T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 14.51 73105 chr6 27420081 27420081 T C rs374527178 ZNF184 Synonymous SNV E419E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.268 73106 chr6 27420267 27420267 C T rs374733457 ZNF184 Synonymous SNV T357T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 73107 chr6 27420348 27420348 G A rs139038488 ZNF184 Synonymous SNV G330G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.31 73108 chr6 27420724 27420724 G A rs376073172 ZNF184 Nonsynonymous SNV T205I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 73109 chr5 5464418 5464418 T C rs145441296 ICE1 Synonymous SNV S1657S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 9.16 73110 chr17 76497929 76497929 C T rs376047406 DNAH17 Synonymous SNV T1739T 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Likely benign 12.87 73111 chr6 129722472 129722472 A G rs138983455 LAMA2 Nonsynonymous SNV N1850S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.894 73112 chr5 178383954 178383954 G C rs11740462 ZNF454 Nonsynonymous SNV G100R 0.023 0.026 0 14 27 10 0.036 0 10 5 0 5 0.223 73113 chr6 27835272 27835272 T C rs200948 H1-5 Synonymous SNV P12P 0.036 0.036 0.058 18 42 14 0.046 17 2 0 1 1 0.041 73114 chr5 178413684 178413684 G A rs143491269 GRM6 Nonsynonymous SNV P524L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 73115 chr6 49696473 49696473 G T rs488132 CRISP3 Synonymous SNV A259A 0.109 0.102 0.119 49 128 39 0.126 35 8 3 1 5 2.878 73116 chr5 148989217 148989217 G A rs75799689 ARHGEF37 Synonymous SNV P139P 0.009 0.005 0.01 9 10 2 0.023 3 0 0 0 0 7.026 73117 chr19 4658047 4658047 A G rs12683 MYDGF Synonymous SNV I164I 0.047 0.055 0.054 9 55 21 0.023 16 4 0 0 0 1.284 73118 chr6 28227273 28227273 C T rs144553865 NKAPL Nonsynonymous SNV R42C 0.007 0 0 1 8 0 0.003 0 0 0 0 0 22.6 73119 chr5 54830285 54830285 G A RNF138P1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.844 73120 chr5 56777878 56777878 G A rs142342493 ACTBL2 Synonymous SNV Y219Y 0.005 0 0 0 6 0 0 0 0 0 0 0 3.684 73121 chr5 60839907 60839907 C A rs16892374 ZSWIM6 Synonymous SNV P1137P 0.02 0.016 0.031 10 23 6 0.026 9 0 0 0 0 13.02 73122 chr6 28244756 28244756 T G rs537254525 ZSCAN26 Nonsynonymous SNV H232Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 73123 chr5 178700004 178700004 G A rs76704342 ADAMTS2 Nonsynonymous SNV A199V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign/Likely benign 16.51 73124 chr5 178977608 178977608 - GCGGGAGCTGGA rs764602508 RUFY1 E17_P18insRELE 0.002 0 0 0 2 0 0 0 0 0 0 0 73125 chr17 76969183 76969183 G A rs55684276 LGALS3BP Synonymous SNV A166A 0.014 0.018 0 1 17 7 0.003 0 1 0 0 0 6.414 73126 chr5 149441336 149441336 T C CSF1R Nonsynonymous SNV Q568R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26 73127 chr6 135539103 135539103 G A rs35664708 MYB Synonymous SNV R551R 0.015 0.013 0.024 5 18 5 0.013 7 0 0 0 0 6.104 73128 chr5 180030235 180030235 G C FLT4 Nonsynonymous SNV S1350C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.251 73129 chr19 48305591 48305602 GGGCCTGGGATC - TPRX1 P228_I231del 0 0 0.054 0 0 0 0 16 0 0 2 0 73130 chr5 180166401 180166401 T C OR2Y1 Nonsynonymous SNV I220V 0.004 0 0 0 5 0 0 0 0 0 0 0 12.63 73131 chr5 70805684 70805684 C G rs755020787 BDP1 Nonsynonymous SNV T922S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.3 73132 chr19 4852040 4852040 C T PLIN3 Nonsynonymous SNV D208N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 73133 chr19 4852083 4852083 C T rs371541988 PLIN3 Synonymous SNV L193L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 73134 chr5 180551660 180551660 G T rs141508488 OR2V1 Synonymous SNV I215I 0.014 0.008 0.01 5 16 3 0.013 3 0 0 0 0 0.028 73135 chr17 78305896 78305896 C T rs200898632 RNF213 Nonsynonymous SNV S1203L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.1 73136 chr5 150924239 150924239 G A rs147595273 FAT2 Nonsynonymous SNV T2150M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 10.83 73137 chr5 26902674 26902674 G A rs201926799 CDH9 Synonymous SNV Y388Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.406 73138 chr17 79095409 79095409 G A AATK Nonsynonymous SNV P673L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.387 73139 chr5 31317940 31317940 G A CDH6 Nonsynonymous SNV M597I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 73140 chr6 41557715 41557715 C T rs751222142 FOXP4 Synonymous SNV P388P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.78 73141 chr17 79193730 79193730 C T rs8067409 CEP131 Nonsynonymous SNV V43I 0.018 0.034 0.02 9 21 13 0.023 6 0 0 0 0 11.68 73142 chr17 79207455 79207455 C A rs144199126 TEPSIN Nonsynonymous SNV G146V 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 1.382 73143 chr6 151627014 151627016 GAA - rs765450667 AKAP12 E101del 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 73144 chr17 79219452 79219452 G C rs59820101 SLC38A10 Synonymous SNV A1088A 0.016 0.021 0.02 8 19 8 0.021 6 0 0 0 0 4.122 73145 chr17 79219566 79219566 C G rs57072484 SLC38A10 Synonymous SNV R1050R 0.016 0.021 0.02 8 19 8 0.021 6 0 0 0 0 11.76 73146 chr17 79219937 79219937 T C rs147849926 SLC38A10 Nonsynonymous SNV K927E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.008 73147 chr6 36343801 36343801 C T rs145194281 ETV7 Nonsynonymous SNV A52T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 73148 chr6 42074089 42074089 T C rs548297444 C6orf132 Nonsynonymous SNV K521E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 1.201 73149 chr19 49641534 49641534 C A rs45503497 PPFIA3 Synonymous SNV G642G 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 14.84 73150 chr17 79234180 79234180 G A rs34228248 SLC38A10 Synonymous SNV V382V 0.017 0.021 0.007 4 20 8 0.01 2 0 0 0 0 12.94 73151 chr5 75967665 75967665 C A rs143839039 IQGAP2 Synonymous SNV A471A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 19.05 73152 chr5 33616035 33616035 G A rs745504268 ADAMTS12 Synonymous SNV N677N 0.003 0 0 0 3 0 0 0 0 0 0 0 8.868 73153 chr6 74497102 74497102 G A rs35466124 CD109 Nonsynonymous SNV G751E 0.034 0.036 0.02 12 40 14 0.031 6 0 0 0 0 25.9 73154 chr6 151917695 151917695 G A rs753228753 CCDC170 Nonsynonymous SNV D565N 0.007 0.01 0 0 8 4 0 0 0 0 0 0 26.1 73155 chr6 42236973 42236973 C T rs61756353 TRERF1 Nonsynonymous SNV G119D 0.009 0.003 0.01 1 11 1 0.003 3 0 0 0 0 22.9 73156 chr5 34033476 34033476 C T rs201831968 C1QTNF3 Nonsynonymous SNV R95Q 0.003 0 0 0 3 0 0 0 0 0 0 0 31 73157 chr6 42832683 42832683 G A rs10456519 BICRAL Synonymous SNV Q913Q 0.012 0.021 0.01 8 14 8 0.021 3 0 0 0 0 1.024 73158 chr6 152746682 152746682 C A rs149758808 SYNE1 Nonsynonymous SNV A1708S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.27 73159 chr6 153019100 153019103 AGAT - rs3841162 MYCT1 D22Efs*34 0.021 0.016 0.024 8 25 6 0.021 7 1 0 0 0 73160 chr5 35876250 35876250 A G rs752755761 IL7R Nonsynonymous SNV N348D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.02 73161 chr6 43183972 43183972 T C rs61741999 CUL9 Synonymous SNV L2005L 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 4.025 73162 chr5 79025085 79025085 A G rs72635618 CMYA5 Nonsynonymous SNV K166R 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 9.031 73163 chr6 43497063 43497063 G A rs774522589 POLR1C Synonymous SNV T333T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.984 73164 chr6 401509 401509 C T rs61732392 IRF4 Synonymous SNV S276S 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 13.74 73165 chr5 79026370 79026370 T G rs72635619 CMYA5 Nonsynonymous SNV F594L 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 7.762 73166 chr6 84108091 84108091 C T rs2230900 ME1 Synonymous SNV K119K 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 14.91 73167 chr6 84881429 84881429 T C rs41271603 CEP162 Synonymous SNV E649E 0.023 0.039 0.02 7 27 15 0.018 6 0 0 1 0 0.464 73168 chr5 167858434 167858434 T C rs3822658 WWC1 Synonymous SNV H755H 0.01 0.005 0.017 7 12 2 0.018 5 0 0 0 0 0.308 73169 chr6 84904604 84904604 G C rs17790493 CEP162 Nonsynonymous SNV S266C 0.01 0.023 0.007 4 12 9 0.01 2 0 0 0 0 25.4 73170 chr5 78423735 78423735 A G rs56915878 BHMT Synonymous SNV P322P 0.025 0.023 0.01 1 29 9 0.003 3 0 0 0 0 1.196 73171 chr17 80404555 80404555 G A rs72857481 CYBC1 Nonsynonymous SNV L35F 0.018 0.021 0.017 12 21 8 0.031 5 0 0 0 0 17.66 73172 chr6 110536489 110536489 C G rs138462889 CDC40 Nonsynonymous SNV L315V 0.014 0.005 0.024 2 16 2 0.005 7 1 0 0 0 26.1 73173 chr5 41000851 41000851 - A rs548836249 MROH2B Frameshift insertion A1427Cfs*2 0.012 0.008 0.007 4 14 3 0.01 2 0 0 0 0 73174 chr17 80710099 80710099 C T rs11550067 TBCD Synonymous SNV G10G 0.009 0.003 0.014 0 10 1 0 4 0 0 0 0 15.11 73175 chr6 111540155 111540155 G A SLC16A10 Nonsynonymous SNV E409K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 73176 chr6 46656557 46656557 C T rs41273658 TDRD6 Nonsynonymous SNV P231L 0.052 0.049 0.082 19 61 19 0.049 24 4 1 0 1 0.006 73177 chr6 112508694 112508694 A G rs143580603 LAMA4 Synonymous SNV H308H 0.012 0.01 0.003 5 14 4 0.013 1 0 0 0 0 Benign/Likely benign 1.325 73178 chr5 16877744 16877744 C T rs17707947 MYO10 Nonsynonymous SNV V32I 0.009 0.01 0.017 2 10 4 0.005 5 0 0 1 0 15.24 73179 chr6 90334263 90334263 A G rs186069988 ANKRD6 Synonymous SNV P349P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.969 73180 chr6 42946654 42946654 C G rs61752141 PEX6 Nonsynonymous SNV A79P 0.004 0.005 0.017 2 5 2 0.005 5 0 0 0 0 Benign 24.7 73181 chr6 90396729 90396729 T C MDN1 Nonsynonymous SNV S3822G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 73182 chr6 47763065 47763065 C T rs148347315 OPN5 Synonymous SNV Y174Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.97 73183 chr5 5209219 5209219 A C rs200784477 ADAMTS16 Nonsynonymous SNV I489L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.047 73184 chr5 82400841 82400841 A G XRCC4 Nonsynonymous SNV T35A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.78 73185 chr6 97613327 97613327 A G rs551147228 MMS22L Nonsynonymous SNV C723R 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 24.1 73186 chr5 82850804 82850804 C G VCAN Nonsynonymous SNV L487V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 73187 chr18 6908981 6908981 A G rs370814527 ARHGAP28 Nonsynonymous SNV K526E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.9 73188 chr5 176519730 176519730 C T rs55658990 FGFR4 Synonymous SNV L334L 0.004 0.005 0.01 4 5 2 0.01 3 0 0 0 0 Benign 10.63 73189 chr5 53815120 53815120 C T rs140790089 SNX18 Synonymous SNV N446N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.047 73190 chr7 100084503 100084503 G T rs748550079 NYAP1 Nonsynonymous SNV G43V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.21 73191 chr7 100137027 100137027 G A AGFG2 Nonsynonymous SNV A20T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 73192 chr18 8609833 8609833 C T rs772796134 RAB12 Synonymous SNV P36P 0.003 0 0 0 3 0 0 0 0 0 0 0 17.12 73193 chr7 100282707 100282707 G A rs117339142 GIGYF1 Synonymous SNV L419L 0.009 0.013 0.014 4 10 5 0.01 4 0 0 0 0 9.914 73194 chr7 100285476 100285476 C T rs77794375 GIGYF1 Nonsynonymous SNV A66T 0.003 0.008 0.007 4 4 3 0.01 2 1 0 0 0 21.6 73195 chr5 55094391 55094391 G A rs906645756 DDX4 Nonsynonymous SNV R387Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 73196 chr7 100491588 100491588 C T rs114367422 ACHE Nonsynonymous SNV G89E 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign 23.2 73197 chr5 93775790 93775790 C T rs772006270 KIAA0825 Synonymous SNV Q798Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.089 73198 chr6 46976812 46976812 T C rs1226475 ADGRF1 Nonsynonymous SNV I787V 0.036 0.023 0.037 8 42 9 0.021 11 2 0 1 1 0.001 73199 chr6 46977458 46977458 T C rs937057 ADGRF1 Nonsynonymous SNV I571M 0.037 0.023 0.037 8 43 9 0.021 11 2 0 1 1 2.689 73200 chr19 52959991 52959991 C T rs12459176 ZNF578 0 0 0.401 0 0 0 0 118 0 0 58 0 0.969 73201 chr19 53099965 53099965 A G rs2279151 ZNF137P 0 0 0.099 0 0 0 0 29 0 0 13 0 4.068 73202 chr19 53099975 53099975 C G rs2279152 ZNF137P 0 0 0.153 0 0 0 0 45 0 0 19 0 4.164 73203 chr5 179225978 179225978 G A rs41285561 MGAT4B Synonymous SNV A446A 0.003 0.003 0.007 8 4 1 0.021 2 0 0 0 1 12.9 73204 chr6 168376880 168376880 - G rs368066294 HGC6.3 Frameshift insertion Q151Hfs*7 0.053 0.057 0.003 13 62 22 0.033 1 5 1 0 0 73205 chr6 47626827 47626827 C T rs745591495 ADGRF2 Nonsynonymous SNV P69L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 73206 chr5 179249974 179249974 G A rs371268375 SQSTM1 Synonymous SNV L74L 0.003 0.003 0.003 7 4 1 0.018 1 0 0 0 1 11.53 73207 chr6 168376882 168376882 - T rs775809885 HGC6.3 Frameshift insertion Q151Tfs*7 0.051 0.055 0.003 13 60 21 0.033 1 3 0 0 0 73208 chr6 168376892 168376892 A G rs9355147 HGC6.3 Synonymous SNV L147L 0.05 0.057 0.007 13 59 22 0.033 2 0 1 0 0 0.098 73209 chr6 168376908 168376908 T C rs2516605 HGC6.3 Nonsynonymous SNV N142S 0.049 0.047 0 11 57 18 0.028 0 1 0 0 0 0.114 73210 chr6 168376925 168376925 - T rs35001101 HGC6.3 Frameshift insertion T137Hfs*7 0.038 0.044 0 10 45 17 0.026 0 0 0 0 0 73211 chr6 168376929 168376929 A G rs34297425 HGC6.3 Nonsynonymous SNV F135S 0.031 0.029 0 8 36 11 0.021 0 0 0 0 0 2.45 73212 chr6 168376951 168376951 T C rs34562778 HGC6.3 Nonsynonymous SNV M128V 0.022 0.029 0 7 26 11 0.018 0 2 0 0 1 1.415 73213 chr5 65892767 65892767 - GCC rs200514960 MAST4 P98_L99insP 0.026 0.036 0.088 17 30 14 0.044 26 5 5 4 5 73214 chr5 98106365 98106365 G A RGMB-AS1 0.007 0 0 1 8 0 0.003 0 0 0 0 0 19.29 73215 chr19 53472679 53472682 CACT - rs35986023 ZNF702P 0 0 0.027 0 0 0 0 8 0 0 2 0 73216 chr18 12427310 12427310 C T PRELID3A Synonymous SNV S130S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.56 73217 chr6 170013751 170013751 C - rs566702918 WDR27 G551Vfs*16 0.009 0.003 0.003 8 10 1 0.021 1 0 0 0 0 73218 chr18 13053077 13053077 G C rs757400070 CEP192 Synonymous SNV L1059L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.075 73219 chr6 132636820 132636820 C G rs36075540 MOXD1 Nonsynonymous SNV E488Q 0.02 0.021 0.017 8 23 8 0.021 5 0 0 0 0 18.59 73220 chr6 132874814 132874814 A C rs8192627 TAAR8 Nonsynonymous SNV D328A 0.054 0.047 0.075 25 63 18 0.064 22 5 0 0 1 2.898 73221 chr6 132891538 132891538 C T rs8192622 TAAR6 Synonymous SNV P26P 0.036 0.044 0.061 14 42 17 0.036 18 2 0 0 0 9.774 73222 chr6 4996543 4996543 C T rs62385118 RPP40 Nonsynonymous SNV S201N 0.041 0.052 0.027 16 48 20 0.041 8 0 0 0 1 13.63 73223 chr18 13731574 13731574 G C rs61730997 RNMT Nonsynonymous SNV A20P 0.015 0.008 0.02 14 18 3 0.036 6 0 0 0 0 0.277 73224 chr18 13746276 13746276 C T rs115462439 RNMT Synonymous SNV Y399Y 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 11.54 73225 chr5 2748650 2748650 T C rs141521193 IRX2 Nonsynonymous SNV N391S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 3.934 73226 chr19 53762563 53762563 G C rs61732642 VN1R2 Nonsynonymous SNV R312T 0.018 0.034 0.024 8 21 13 0.021 7 0 0 0 1 22.8 73227 chr5 32074252 32074252 G A rs61745924 PDZD2 Nonsynonymous SNV V1014I 0.003 0 0 1 3 0 0.003 0 1 0 0 0 0.002 73228 chr6 17629091 17629091 A G rs61734900 NUP153 Synonymous SNV S1071S 0.015 0.016 0.003 6 18 6 0.015 1 0 0 0 0 Benign 2.398 73229 chr19 53793798 53793798 C T rs12609478 BIRC8 0 0 0.065 0 0 0 0 19 0 0 1 0 12.58 73230 chr6 52101739 52101739 T C rs763780 IL17F Nonsynonymous SNV H161R 0.064 0.06 0.048 20 75 23 0.051 14 3 1 0 0 Benign 0.057 73231 chr5 71015127 71015127 A G rs774906197 CARTPT Nonsynonymous SNV S3G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 73232 chr5 33881252 33881252 G A rs117518215 ADAMTS12 Nonsynonymous SNV T154M 0.026 0.013 0.007 8 31 5 0.021 2 0 0 0 0 23.1 73233 chr6 138200288 138200288 G A TNFAIP3 Nonsynonymous SNV R569Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 73234 chr6 138491807 138491807 G A rs116359974 ARFGEF3 Nonsynonymous SNV G32S 0.016 0.016 0.003 8 19 6 0.021 1 0 0 0 0 17.41 73235 chr18 23807239 23807239 A G rs201210120 TAF4B Synonymous SNV P114P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.71 73236 chr19 5456115 5456115 G A rs751507305 ZNRF4 Nonsynonymous SNV G205S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 73237 chr19 54578328 54578328 A G rs17305269 TARM1 Nonsynonymous SNV S37P 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 16.61 73238 chr19 54656709 54656709 A T rs77902046 CNOT3 Synonymous SNV T670T 0.026 0.042 0.031 10 30 16 0.026 9 0 0 0 0 0.03 73239 chr6 139097232 139097232 C T rs2273510 CCDC28A Nonsynonymous SNV P82L 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 23.1 73240 chr6 139197686 139197686 G A rs373887695 ECT2L Synonymous SNV L552L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.443 73241 chr19 54758835 54758835 C T rs373653005 LILRB5 Nonsynonymous SNV V240M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 73242 chr5 35649515 35649515 A G rs766687517 SPEF2 Nonsynonymous SNV Q260R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.2 73243 chr18 31323848 31323848 A G rs61995734 ASXL3 Nonsynonymous SNV I1346V 0.012 0.008 0.01 0 14 3 0 3 1 0 0 0 8.264 73244 chr19 54974655 54974655 C G LENG9 Nonsynonymous SNV A19P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 73245 chr18 31523144 31523144 - A rs530792420 NOL4 0.013 0.008 0.01 3 15 3 0.008 3 0 0 0 0 73246 chr6 71190687 71190687 G A rs61741206 FAM135A Nonsynonymous SNV S176N 0.015 0.013 0.024 8 18 5 0.021 7 0 0 0 0 22.5 73247 chr5 37244522 37244522 G A rs117069814 CPLANE1 Synonymous SNV T175T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.38 73248 chr19 55496494 55496494 C T rs61733928 NLRP2 Synonymous SNV L682L 0.043 0.034 0.027 14 50 13 0.036 8 1 0 1 1 7.514 73249 chr5 76607841 76607841 G A rs115599001 PDE8B Nonsynonymous SNV R121H 0.005 0.005 0.014 8 6 2 0.021 4 0 0 0 1 Benign/Likely benign 22.8 73250 chr5 37371059 37371059 G A rs61756070 NUP155 Synonymous SNV G7G 0.012 0.01 0.003 9 14 4 0.023 1 0 0 0 0 Benign 12.88 73251 chr6 71298388 71298388 T C rs73488105 SDHAF4 Synonymous SNV Y96Y 0.014 0.013 0.024 6 17 5 0.015 7 0 0 0 0 2.315 73252 chr6 116574339 116574339 T G TSPYL4 Nonsynonymous SNV Y278S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 73253 chr19 55525818 55525818 C T rs41275822 GP6 Nonsynonymous SNV G499S 0.049 0.036 0.048 20 57 14 0.051 14 1 0 2 1 Benign 5.357 73254 chr6 116441470 116441470 C G rs2228548 COL10A1 Synonymous SNV V603V 0.047 0.052 0.031 18 55 20 0.046 9 1 1 0 1 Benign 6.25 73255 chr5 38996945 38996945 T C rs141745592 RICTOR Synonymous SNV T144T 0.003 0.005 0.007 4 4 2 0.01 2 0 0 0 0 6.61 73256 chr5 7831992 7831992 G A rs326181 C5orf49 Nonsynonymous SNV P139S 0.012 0.005 0.007 6 14 2 0.015 2 0 0 0 0 23.4 73257 chr6 148840903 148840903 C A rs34493383 SASH1 Synonymous SNV G122G 0.024 0.023 0.031 11 28 9 0.028 9 0 0 1 0 14.5 73258 chr6 116752290 116752290 A G rs34994230 DSE Nonsynonymous SNV I282V 0.024 0.034 0.007 11 28 13 0.028 2 0 0 0 0 Benign 23.6 73259 chr5 7851121 7851121 T C rs202179107 C5orf49 Nonsynonymous SNV E5G 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 15.45 73260 chr6 150005650 150005650 G A rs144805744 LATS1 Nonsynonymous SNV P192L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.1 73261 chr6 27805902 27805902 G C rs141833276 H2AC15 Synonymous SNV R72R 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 4.212 73262 chr6 27861541 27861541 C T rs141163980 H2BC17 Synonymous SNV L101L 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 12.33 73263 chr6 117622137 117622137 C T rs142264513 ROS1 Nonsynonymous SNV G2245S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.32 73264 chr19 55870260 55870260 G A rs73054941 FAM71E2 Nonsynonymous SNV P659L 0.014 0.01 0.02 9 17 4 0.023 6 0 0 0 0 22.8 73265 chr6 119399351 119399351 C T rs370600021 FAM184A Synonymous SNV Q38Q 0.005 0.021 0.003 0 6 8 0 1 0 0 0 0 16.86 73266 chr6 89910942 89910942 C T rs79395763 GABRR1 Synonymous SNV L55L 0.011 0.005 0.003 4 13 2 0.01 1 0 0 0 0 13.43 73267 chr5 43298951 43298951 A G rs3806871 HMGCS1 Synonymous SNV Y39Y 0.017 0.003 0.024 11 20 1 0.028 7 0 0 0 0 1.202 73268 chr5 43487106 43487106 C A rs989536949 C5orf34 Nonsynonymous SNV V610F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.44 73269 chr6 90315771 90315771 C G rs16881983 ANKRD6 Nonsynonymous SNV Q122E 0.017 0.023 0.037 3 20 9 0.008 11 0 0 0 0 23.4 73270 chr18 44140054 44140054 C - LOXHD1 G1018Vfs*27 0.003 0 0 1 4 0 0.003 0 0 0 0 0 73271 chr6 123818380 123818380 G A TRDN Stop gain R271X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Pathogenic 43 73272 chr6 127836860 127836860 G A rs61741828 SOGA3 Synonymous SNV C300C 0.038 0.047 0.034 11 45 18 0.028 10 0 0 2 0 0.076 73273 chr6 126667415 126667415 C T rs146477102 CENPW Stop gain R51X 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 23.4 73274 chr6 33990625 33990625 G A rs45558337 GRM4 Synonymous SNV Y788Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.27 73275 chr6 128150708 128150708 T C rs147510916 THEMIS Nonsynonymous SNV K208E 0.005 0 0 0 6 0 0 0 0 0 0 0 23.1 73276 chr6 34512064 34512064 C T rs2233639 SPDEF Nonsynonymous SNV A57T 0.039 0.026 0.048 10 46 10 0.026 14 4 0 0 1 16.75 73277 chr6 34512195 34512195 G C rs2233637 SPDEF Nonsynonymous SNV P13R 0.037 0.026 0.044 10 43 10 0.026 13 3 0 0 1 3.279 73278 chr6 154771232 154771232 T A rs117104961 CNKSR3 Synonymous SNV A77A 0.03 0.031 0.007 14 35 12 0.036 2 1 0 0 0 Benign 14.37 73279 chr6 348124 348124 C T rs56362282 DUSP22 Synonymous SNV S95S 0.015 0.013 0.02 2 18 5 0.005 6 0 0 0 0 18.94 73280 chr18 52586545 52586545 A G rs34751112 CCDC68 Nonsynonymous SNV V249A 0.031 0.026 0.027 10 36 10 0.026 8 0 0 0 0 26.6 73281 chr6 34985563 34985563 G A rs41270044 ANKS1A Synonymous SNV S579S 0.008 0.01 0.01 5 9 4 0.013 3 0 0 0 0 1.076 73282 chr5 90002172 90002172 A C rs201586455 ADGRV1 Nonsynonymous SNV E2897D 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 73283 chr7 103180872 103180872 A G rs2075043 RELN Synonymous SNV C2234C 0.026 0.031 0.034 13 30 12 0.033 10 2 0 0 0 Benign 2.023 73284 chr18 54606574 54606574 A G rs139596592 WDR7 Synonymous SNV G1305G 0.011 0.005 0.01 6 13 2 0.015 3 1 0 0 0 10.83 73285 chr6 130762287 130762287 G T rs17053432 TMEM200A Synonymous SNV G240G 0.02 0.029 0.017 8 23 11 0.021 5 0 0 0 0 0.005 73286 chr6 35426175 35426175 C T rs3823434 FANCE Synonymous SNV L357L 0.036 0.023 0.031 16 42 9 0.041 9 2 0 0 0 Benign 15.53 73287 chr6 35544889 35544889 T A rs146787424 FKBP5 Nonsynonymous SNV Q383L 0.01 0.01 0.003 1 12 4 0.003 1 0 0 0 0 23 73288 chr6 35803103 35803103 C T rs35124200 SRPK1 Nonsynonymous SNV R649Q 0.011 0.016 0.007 4 13 6 0.01 2 0 0 0 0 22.5 73289 chr7 108155051 108155051 C T rs34936500 PNPLA8 Synonymous SNV T295T 0.013 0.026 0.024 7 15 10 0.018 7 0 0 0 0 9.281 73290 chr6 35911856 35911856 G A rs61741366 SLC26A8 Nonsynonymous SNV P807S 0.012 0.018 0.007 4 14 7 0.01 2 0 0 0 0 14.57 73291 chr6 135271186 135271186 A G ALDH8A1 Synonymous SNV A2A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.813 73292 chr5 55256305 55256305 G A rs141500365 IL6ST Nonsynonymous SNV R300C 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 73293 chr6 137019678 137019678 G A MAP3K5 Nonsynonymous SNV P252L 0.003 0 0 0 4 0 0 0 0 0 0 0 31 73294 chr7 115581970 115581970 T C TFEC Nonsynonymous SNV R147G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 73295 chr7 117199648 117199648 T G rs74571530 CFTR Nonsynonymous SNV F508C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 73296 chr6 139186159 139186159 T G rs79294486 ECT2L Nonsynonymous SNV W440G 0.011 0.003 0.007 4 13 1 0.01 2 0 0 0 0 not provided 0.004 73297 chr6 138753849 138753849 C T rs76205421 NHSL1 Nonsynonymous SNV G549R 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 10.86 73298 chr6 36981744 36981744 G A rs145883518 FGD2 Nonsynonymous SNV E231K 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 73299 chr18 56940241 56940241 C T rs892784454 RAX Synonymous SNV R66R 0.003 0 0 0 3 0 0 0 0 0 0 0 15.41 73300 chr19 57839930 57839930 T C rs771651889 ZNF543 Nonsynonymous SNV F367S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 73301 chr7 100205706 100205706 G C rs61739556 PCOLCE Nonsynonymous SNV A444P 0.008 0.005 0.007 7 9 2 0.018 2 0 0 0 0 Benign 15.27 73302 chr5 64511194 64511194 G A rs149141130 ADAMTS6 Nonsynonymous SNV S798F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 73303 chr6 143929450 143929450 G A rs41285023 PHACTR2 Nonsynonymous SNV D2N 0.027 0.026 0.037 7 32 10 0.018 11 0 0 0 0 24.4 73304 chr6 144167195 144167195 A G rs41285029 LTV1 Nonsynonymous SNV N48S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 73305 chr6 144768370 144768370 C T rs138031002 UTRN Synonymous SNV T546T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 18.34 73306 chr7 123270162 123270162 G A rs760105269 ASB15 Nonsynonymous SNV R528H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 73307 chr7 123302916 123302918 CCT - rs781748276 LMOD2 P433del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 73308 chr6 165703453 165703453 A C rs73022263 C6orf118 Synonymous SNV A408A 0.032 0.021 0.024 4 38 8 0.01 7 2 0 0 0 0.031 73309 chr7 123594453 123594453 T C rs146942265 SPAM1 Nonsynonymous SNV Y277H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24.8 73310 chr19 58117909 58117909 A G rs780355733 ZNF530 Nonsynonymous SNV Y339C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 73311 chr5 66448622 66448622 C T rs2271358 MAST4 Synonymous SNV Y890Y 0.014 0.008 0.02 9 16 3 0.023 6 0 0 0 0 13.73 73312 chr6 165715684 165715684 - CTTCAGATTACACAGGGTCTTCACTCCTGGCGTCTCGCAGTGCTTCAGATTACACAGGGTCTTCACGCCTGGCGTCTCGCAGTG C6orf118 K42_K43insHCETPGVKTLCNLKHCETPGVKTLCNLK 0.001 0 0 0 1 0 0 0 0 0 0 0 73313 chr5 66462069 66462069 A G rs4699896 MAST4 Synonymous SNV T2093T 0.014 0.008 0.027 9 16 3 0.023 8 0 0 0 0 6.301 73314 chr19 58380337 58380337 A G rs890867 UBE2CP5 0 0 0.01 0 0 0 0 3 0 0 1 0 0.578 73315 chr5 66478729 66478729 A G rs2230524 CD180 Nonsynonymous SNV F648L 0.014 0.008 0.017 7 16 3 0.018 5 0 0 0 0 0.21 73316 chr5 66480374 66480374 G C rs2230520 CD180 Nonsynonymous SNV S99R 0.013 0.008 0.017 7 15 3 0.018 5 0 0 0 0 18.95 73317 chr6 147830212 147830212 G A rs71547193 SAMD5 Nonsynonymous SNV A50T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 21 73318 chr19 58791254 58791254 A - rs141708687 ZNF8-ERVK3-1 0 0 0.177 0 0 0 0 52 0 0 0 0 73319 chr6 108395623 108395623 G C rs757742074 OSTM1 Nonsynonymous SNV P78R 0.006 0 0 0 7 0 0 0 0 0 0 0 29.7 73320 chr6 108882915 108882915 C T rs150320900 FOXO3 Synonymous SNV R168R 0.015 0.008 0.007 4 18 3 0.01 2 0 0 0 0 Benign 16.09 73321 chr6 168366580 168366580 G A rs138065781 AFDN Synonymous SNV P1654P 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 10.73 73322 chr6 168377220 168377220 T A rs79173693 HGC6.3 Nonsynonymous SNV Q38L 0.028 0.029 0 10 33 11 0.026 0 0 0 0 0 3.506 73323 chr7 128485143 128485143 G A rs35281128 FLNC Synonymous SNV A1208A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 1.089 73324 chr5 73236739 73236739 G A rs114929272 ARHGEF28 Synonymous SNV A1360A 0.003 0.008 0.017 5 3 3 0.013 5 0 0 0 0 13.62 73325 chr18 71998111 71998111 C T C18orf63 Synonymous SNV I145I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.43 73326 chr6 42074371 42074371 G A rs201270853 C6orf132 Nonsynonymous SNV P427S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 3.8 73327 chr19 59093604 59093604 A - CENPBD1P1 0 0 0.15 0 0 0 0 44 0 0 0 0 73328 chr19 5914452 5914452 G A rs78909912 CAPS Nonsynonymous SNV R12Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 30 73329 chr7 128626888 128626888 C G rs750192462 TNPO3 Nonsynonymous SNV V529L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 73330 chr6 42583812 42583812 C T UBR2 Nonsynonymous SNV A389V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 73331 chr7 129091490 129091490 C G rs145786595 STRIP2 Nonsynonymous SNV A104G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 73332 chr6 110679158 110679158 C T rs199550919 METTL24 Synonymous SNV K106K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 73333 chr7 130008259 130008259 A G rs11765961 CPA5 Nonsynonymous SNV S378G 0.011 0.01 0.02 4 13 4 0.01 6 1 0 0 0 22.3 73334 chr6 170862305 170862305 G C PSMB1 Nonsynonymous SNV S9W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.31 73335 chr6 111709039 111709039 A G rs780747663 REV3L Nonsynonymous SNV L342P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 73336 chr6 152757224 152757224 G A rs34028822 SYNE1 Nonsynonymous SNV R1395W 0.009 0.018 0.003 8 11 7 0.021 1 0 1 0 0 Benign/Likely benign 31 73337 chr6 152674464 152674464 C A rs143070183 SYNE1 Nonsynonymous SNV K3714N 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 73338 chr6 43182906 43182906 C T rs76552409 CUL9 Synonymous SNV V1926V 0.009 0.013 0.007 5 11 5 0.013 2 0 0 0 0 18.65 73339 chr6 17688693 17688693 C T rs16879902 NUP153 Nonsynonymous SNV D90N 0.06 0.057 0.044 23 70 22 0.059 13 4 0 0 0 0.631 73340 chr6 152697675 152697675 G T rs117020413 SYNE1 Synonymous SNV S3062S 0.015 0.008 0.01 11 18 3 0.028 3 0 0 0 0 Benign/Likely benign 6.881 73341 chr7 132193335 132193335 A G rs145024048 PLXNA4 Nonsynonymous SNV F40L 0.029 0.036 0.031 20 34 14 0.051 9 2 0 0 1 Benign 2.736 73342 chr6 116288825 116288825 C T rs145089105 FRK Nonsynonymous SNV D230N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 73343 chr7 133932357 133932357 T C rs34904752 LRGUK Nonsynonymous SNV M678T 0.009 0.021 0.034 4 11 8 0.01 10 0 0 0 0 10.55 73344 chr19 6953167 6953167 C G rs11085208 ADGRE4P 0 0 0.16 0 0 0 0 47 0 0 6 0 0.641 73345 chr19 7006249 7006249 C T rs62126095 FLJ25758 0 0 0.381 0 0 0 0 112 0 0 32 0 4.876 73346 chr6 24302046 24302046 G C rs33914824 DCDC2 Nonsynonymous SNV P152A 0.031 0.039 0.051 20 36 15 0.051 15 0 0 1 0 Benign 25.9 73347 chr6 116833294 116833294 G A rs151271478 CALHM5 Synonymous SNV K145K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 73348 chr6 24423824 24423824 C T rs35261004 MRS2 Nonsynonymous SNV P362S 0.008 0.031 0.007 2 9 12 0.005 2 0 0 0 0 14.58 73349 chr6 24454363 24454363 G A rs61748578 GPLD1 Synonymous SNV Y405Y 0.01 0.034 0.003 2 12 13 0.005 1 0 0 0 0 0.372 73350 chr6 24576601 24576601 T G rs150824948 KIAA0319 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 73351 chr5 79375038 79375038 C T rs138940563 THBS4 Nonsynonymous SNV A732V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.9 73352 chr6 25042112 25042112 A G rs148823241 RIPOR2 Nonsynonymous SNV W15R 0.014 0.026 0.017 3 17 10 0.008 5 0 0 0 0 Benign 24.9 73353 chr6 117683821 117683821 G A rs2229079 ROS1 Nonsynonymous SNV S1109L 0.061 0.068 0.065 27 72 26 0.069 19 2 1 0 0 21.1 73354 chr6 159646580 159646580 C T rs1031735872 FNDC1 Nonsynonymous SNV R300C 0.003 0 0 0 4 0 0 0 0 0 0 0 29.3 73355 chr19 7584242 7584242 G C rs757973566 ZNF358 Synonymous SNV P38P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.845 73356 chr7 138434059 138434059 G T rs61747674 ATP6V0A4 Nonsynonymous SNV L345I 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 1 Benign 22.9 73357 chr19 7809013 7809013 G A rs78866372 CD209 Synonymous SNV D195D 0.019 0.013 0.014 6 22 5 0.015 4 0 1 0 0 Benign 1.745 73358 chr6 47541954 47541954 C T rs140627775 CD2AP Synonymous SNV S232S 0.028 0.042 0.02 14 33 16 0.036 6 0 1 0 1 Benign/Likely benign 13.68 73359 chr5 80659635 80659635 A G rs755088747 ACOT12 Nonsynonymous SNV F111S 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 28.9 73360 chr6 26158562 26158562 C T rs141600148 H2BC5 Synonymous SNV I55I 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 14.38 73361 chr6 26234606 26234608 CTT - rs199868143 H1-3 K185_A186delinsT 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 73362 chr6 27279095 27279095 T C rs61736096 POM121L2 Synonymous SNV P285P 0.007 0.013 0.017 1 8 5 0.003 5 0 0 0 0 0.043 73363 chr6 27420048 27420048 G C rs61736956 ZNF184 Nonsynonymous SNV H430Q 0.011 0.016 0.017 1 13 6 0.003 5 0 0 0 0 19.09 73364 chr7 100680178 100680178 C T rs776691655 MUC17 Synonymous SNV T1827T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.2 73365 chr6 159672489 159672489 G A rs200732708 FNDC1 Nonsynonymous SNV V1664M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 73366 chr5 87493525 87493525 C T rs75451667 TMEM161B Nonsynonymous SNV V201I 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 20.4 73367 chr7 100880851 100880851 A T rs745557741 CLDN15 Synonymous SNV A4A 0.003 0.01 0 6 4 4 0.015 0 0 0 0 0 0.019 73368 chr6 129959629 129959629 C T rs34022250 ARHGAP18 Synonymous SNV T154T 0.016 0.013 0.01 7 19 5 0.018 3 0 0 0 0 13.83 73369 chr19 8326863 8326863 A C rs554420170 CERS4 Nonsynonymous SNV E352A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 73370 chr6 49936451 49936451 G A rs201564508 DEFB113 Nonsynonymous SNV A63V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 7.714 73371 chr6 51491866 51491866 A T rs2661488 PKHD1 Nonsynonymous SNV I3905N 0.032 0.034 0.034 20 38 13 0.051 10 1 0 0 0 Benign 0.003 73372 chr7 104717760 104717760 A G rs774354917 KMT2E Nonsynonymous SNV Q337R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.7 73373 chr19 8367845 8367845 C A rs79658260 CD320 Synonymous SNV P132P 0.023 0.023 0.02 17 27 9 0.044 6 0 0 0 0 Benign 12.25 73374 chr6 2892130 2892130 G A rs61748573 SERPINB9 Synonymous SNV P220P 0.006 0.013 0.01 4 7 5 0.01 3 0 0 0 0 6.048 73375 chr19 1085965 1085965 C T rs149452932 ARHGAP45 Nonsynonymous SNV T759I 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 0.958 73376 chr19 8454236 8454236 A G rs72996752 MIR4999 0 0 0.177 0 0 0 0 52 0 0 11 0 0.246 73377 chr7 107576047 107576047 C G rs377593364 LAMB1 Nonsynonymous SNV R1334T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.2 73378 chr6 132645195 132645195 C T rs35248832 MOXD1 Nonsynonymous SNV D330N 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 15.27 73379 chr19 8601430 8601430 G A rs199981303 MYO1F Synonymous SNV R613R 0.009 0.01 0.01 3 11 4 0.008 3 0 0 0 0 Likely benign 11.25 73380 chr19 863105 863105 G C rs781602858 CFD Nonsynonymous SNV G217A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 73381 chr6 53152711 53152711 G C rs139609375 ELOVL5 Synonymous SNV A92A 0.003 0.013 0.003 5 3 5 0.013 1 0 0 0 0 0.599 73382 chr6 33543116 33543116 C T rs561276 BAK1 Synonymous SNV T103T 0.032 0.029 0.027 11 38 11 0.028 8 1 0 0 0 17.72 73383 chr7 107820819 107820819 T C rs34721383 NRCAM Nonsynonymous SNV E865G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Likely benign 28.9 73384 chr19 1122683 1122683 G A SBNO2 Synonymous SNV H239H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.81 73385 chr6 33647676 33647676 C T rs9469553 ITPR3 Synonymous SNV D1330D 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 17.35 73386 chr7 112129868 112129868 A G rs746667389 LSMEM1 Nonsynonymous SNV Q87R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 73387 chr7 113518262 113518262 C T rs148408134 PPP1R3A Nonsynonymous SNV G962D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.002 73388 chr6 34392498 34392498 C T rs757346122 RPS10, RPS10-NUDT3 Synonymous SNV V90V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.07 73389 chr6 135323909 135323909 A C rs147732332 HBS1L Nonsynonymous SNV S126A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 73390 chr6 135517059 135517059 C T rs6927965 MYB Synonymous SNV C339C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.62 73391 chr6 136560617 136560617 G A rs58671808 MTFR2 Nonsynonymous SNV R286C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 73392 chr7 113518600 113518600 T C rs142590001 PPP1R3A Synonymous SNV S849S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 73393 chr5 95152248 95152248 G A rs140804825 GLRX Nonsynonymous SNV T97M 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 8.675 73394 chr6 168440829 168440829 G A rs73042832 KIF25 Synonymous SNV A193A 0.014 0.018 0.02 7 17 7 0.018 6 0 0 0 0 8.229 73395 chr19 1816070 1816070 G A rs1007017891 REXO1 Stop gain R1221X 0.003 0 0 0 3 0 0 0 0 0 0 0 44 73396 chr19 1918134 1918134 G A rs45562539 SCAMP4 Nonsynonymous SNV A5T 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 12.37 73397 chr6 137015292 137015292 G A rs372599403 MAP3K5 Synonymous SNV D413D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 8.022 73398 chr7 100693831 100693831 A G rs148556138 MUC17 Synonymous SNV T4263T 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 0.005 73399 chr6 137323447 137323447 C T IL20RA Nonsynonymous SNV A193T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 73400 chr7 117375047 117375047 G A rs372382974 CTTNBP2 Nonsynonymous SNV R1248C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 73401 chr6 35182249 35182249 C T rs113302940 SCUBE3 Synonymous SNV A18A 0.014 0.008 0.014 9 16 3 0.023 4 0 0 0 0 15.49 73402 chr6 137815041 137815041 G A rs143130950 OLIG3 Synonymous SNV N89N 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 7.768 73403 chr6 170059250 170059250 G C rs35656489 WDR27 Nonsynonymous SNV I226M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.51 73404 chr7 148311240 148311240 C T rs73463436 C7orf33 Nonsynonymous SNV T104M 0.022 0.016 0.034 8 26 6 0.021 10 0 0 1 0 0.022 73405 chr6 139170553 139170553 G A rs73557274 ECT2L Nonsynonymous SNV E351K 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 23.9 73406 chr6 139197608 139197608 G C rs79069095 ECT2L 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 21.2 73407 chr7 149463129 149463129 C T rs142873108 ZNF467 Synonymous SNV P154P 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 6.61 73408 chr6 101094577 101094577 T A rs764942504 ASCC3 Nonsynonymous SNV M1183L 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 15.74 73409 chr6 17637900 17637900 T C rs146284308 NUP153 Nonsynonymous SNV I608V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 73410 chr6 170871055 170871076 GCAGCAGCAGCAGCAGCAGCAG - rs760551718 TBP Q57Hfs*60 0.012 0.008 0.017 3 14 3 0.008 5 0 0 0 0 73411 chr6 10672818 10672818 T C rs146765215 C6orf52 Nonsynonymous SNV N34S 0.014 0.026 0.007 8 16 10 0.021 2 0 0 0 0 1.241 73412 chr6 37606331 37606331 G A rs201772848 MDGA1 Synonymous SNV S883S 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 10.47 73413 chr7 149558607 149558607 G T ZNF862 Synonymous SNV A786A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.163 73414 chr7 127999932 127999932 G T rs374252539 PRRT4 Synonymous SNV T38T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 7.119 73415 chr6 38813412 38813412 G T rs61757219 DNAH8 Nonsynonymous SNV E1419D 0.014 0.031 0.007 4 16 12 0.01 2 0 0 0 0 Benign 13.72 73416 chr19 3961021 3961021 G A rs199944563 DAPK3 Synonymous SNV L256L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.8 73417 chr6 74354232 74354232 C T rs924848481 SLC17A5 Synonymous SNV A63A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.067 73418 chr6 147830212 147830212 G C rs71547193 SAMD5 Nonsynonymous SNV A50P 0.046 0.063 0.044 30 54 24 0.077 13 4 1 0 1 20.6 73419 chr19 9064563 9064563 G A rs755939565 MUC16 Nonsynonymous SNV S7628L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.646 73420 chr19 9070331 9070331 C T rs186109841 MUC16 Synonymous SNV A5705A 0.004 0.01 0.01 2 5 4 0.005 3 0 0 0 0 11.9 73421 chr6 76024220 76024220 C T rs41269319 FILIP1 Nonsynonymous SNV S443N 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 9.482 73422 chr7 129832548 129832548 G A rs201829964 TMEM209 Nonsynonymous SNV T230I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.93 73423 chr6 76024853 76024853 C T rs200643558 FILIP1 Nonsynonymous SNV R232Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.5 73424 chr7 129909638 129909638 G A rs751540588 CPA2 Nonsynonymous SNV V95M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.4 73425 chr7 150554124 150554124 C T rs778626589 AOC1 Nonsynonymous SNV P189L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 73426 chr6 26032274 26032274 T C rs141687093 H3C2 Synonymous SNV K5K 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.003 73427 chr7 11447019 11447019 G A rs142233480 THSD7A Nonsynonymous SNV T1277M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.43 73428 chr6 26056575 26056575 C T rs75040909 H1-2 Nonsynonymous SNV A28T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.41 73429 chr6 25670242 25670242 C G rs145754257 SCGN Nonsynonymous SNV L137V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.8 73430 chr19 4432190 4432190 G A CHAF1A Nonsynonymous SNV R730K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 2.145 73431 chr6 83075412 83075412 C T TPBG Nonsynonymous SNV S245L 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 25.6 73432 chr19 4493979 4493979 C T rs150536528 HDGFL2 Nonsynonymous SNV A280V 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 18.88 73433 chr6 110636603 110636603 C T rs41288586 METTL24 Nonsynonymous SNV D167N 0.003 0.008 0.003 5 3 3 0.013 1 0 0 0 0 28 73434 chr6 25924134 25924134 C T rs111909699 SLC17A2 Nonsynonymous SNV G10D 0.037 0.026 0.014 16 43 10 0.041 4 0 0 0 0 20.8 73435 chr19 4510850 4510850 G A rs145519622 PLIN4 Nonsynonymous SNV A1041V 0.017 0.016 0.017 5 20 6 0.013 5 0 1 0 0 12.55 73436 chr7 151042447 151042447 G T rs61734185 NUB1 Nonsynonymous SNV K28N 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Benign 23.2 73437 chr6 87965519 87965519 C T rs41273271 ZNF292 Synonymous SNV C724C 0.009 0.01 0.01 1 11 4 0.003 3 0 0 0 0 Benign 6.974 73438 chr6 87968253 87968253 C T rs541734133 ZNF292 Nonsynonymous SNV P1636S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 6.18 73439 chr6 26216701 26216701 G A rs140919872 HIST1H2BG Synonymous SNV S57S 0.024 0.016 0.01 2 28 6 0.005 3 0 0 0 0 0.848 73440 chr6 27806796 27806796 C T rs370729564 H2BC15 Synonymous SNV V119V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.26 73441 chr6 42196272 42196272 G C rs150908395 TRERF1 Synonymous SNV P1158P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.944 73442 chr6 27834702 27834702 C T rs16868094 H1-5 Synonymous SNV K202K 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 5.136 73443 chr6 27925629 27925629 A T rs112779382 OR2B6 Nonsynonymous SNV E204V 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 0.197 73444 chr6 152665303 152665303 C T rs60344647 SYNE1 Synonymous SNV Q3975Q 0.006 0.018 0.007 2 7 7 0.005 2 0 0 0 0 Benign 13.73 73445 chr1 100336045 100336045 A G rs373804474 AGL Nonsynonymous SNV R252G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.73 73446 chr7 155511116 155511116 C T rs759729729 RBM33 Synonymous SNV A413A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.72 73447 chr7 138429867 138429867 C T rs772968385 ATP6V0A4 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 73448 chr7 138429896 138429896 G A ATP6V0A4 Stop gain Q484X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 73449 chr7 155532600 155532600 C T rs200834081 RBM33 Synonymous SNV S643S 0.012 0.016 0.003 1 14 6 0.003 1 0 0 0 0 14.91 73450 chr6 27219556 27219556 G C PRSS16 Nonsynonymous SNV A249P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.56 73451 chr6 43164581 43164581 G A rs149725435 CUL9 Synonymous SNV P928P 0.013 0.021 0.003 3 15 8 0.008 1 0 0 0 0 8.491 73452 chr6 43188940 43188940 C T rs6917902 CUL9 Synonymous SNV D2211D 0.118 0.117 0.146 56 139 45 0.144 43 8 2 3 3 12.22 73453 chr6 43193877 43193877 G A rs7832 DNPH1 Synonymous SNV V90V 0.063 0.068 0.061 34 74 26 0.087 18 2 1 0 0 13.31 73454 chr6 90399705 90399705 C T rs552967003 MDN1 Nonsynonymous SNV R3636Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 24.8 73455 chr6 43251880 43251880 C G rs45564136 TTBK1 Synonymous SNV P1134P 0.068 0.057 0.054 35 80 22 0.09 16 5 0 0 1 7.817 73456 chr6 28120944 28120944 G A rs62401435 ZKSCAN8 Nonsynonymous SNV G109S 0.019 0.026 0.017 7 22 10 0.018 5 0 1 0 0 11.44 73457 chr1 104615875 104615875 A G rs3811505 LOC100129138 0 0 0.075 0 0 0 0 22 0 0 1 0 1.124 73458 chr1 104615959 104615959 A G rs3811506 LOC100129138 0 0 0.075 0 0 0 0 22 0 0 1 0 3.92 73459 chr7 128587955 128587955 C A IRF5 Nonsynonymous SNV D218E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.98 73460 chr1 107600279 107600279 G A rs2232017 PRMT6 Synonymous SNV P314P 0.016 0.018 0.007 3 19 7 0.008 2 0 0 0 0 2.848 73461 chr19 5610045 5610045 G A rs806706 SAFB2 Synonymous SNV R419R 0.057 0.034 0.068 23 67 13 0.059 20 3 0 1 0 13.5 73462 chr6 157739948 157739948 T C rs75220664 TMEM242 Nonsynonymous SNV S65G 0.011 0.029 0 5 13 11 0.013 0 0 0 0 0 14.45 73463 chr19 5914605 5914605 A G rs7249419 CAPS Nonsynonymous SNV R39G 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 9.372 73464 chr7 20198321 20198321 C A rs34476934 MACC1 Nonsynonymous SNV V555L 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 21.7 73465 chr19 5914625 5914625 G A rs7248090 CAPS Synonymous SNV E45E 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 1.904 73466 chr1 109482367 109482367 G C CLCC1 Nonsynonymous SNV P126R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 73467 chr7 140396718 140396718 G A rs113951414 NDUFB2-AS1 0.011 0.013 0.01 3 13 5 0.008 3 0 0 0 0 9.217 73468 chr19 6044219 6044219 C T rs61731072 RFX2 Synonymous SNV Q55Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.07 73469 chr19 6044222 6044222 A T rs35193540 RFX2 Synonymous SNV V54V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.225 73470 chr6 159190427 159190427 A T rs1135079 EZR Synonymous SNV T425T 0.004 0.016 0 1 5 6 0.003 0 0 0 0 0 Benign 7.013 73471 chr19 6430079 6430079 C T rs779352460 SLC25A41 Nonsynonymous SNV G153S 0.003 0 0 0 3 0 0 0 0 0 0 0 34 73472 chr6 159414934 159414934 T C rs116017511 RSPH3 Synonymous SNV G189G 0.004 0.016 0.003 1 5 6 0.003 1 0 0 0 0 Benign 4.428 73473 chr6 33638300 33638300 G A rs17526232 ITPR3 Synonymous SNV P796P 0.016 0.01 0.034 6 19 4 0.015 10 0 0 1 0 10.42 73474 chr7 100075102 100075102 G A TSC22D4 Nonsynonymous SNV S187L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.58 73475 chr7 141734563 141734563 A G rs200866992 MGAM Synonymous SNV G627G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.906 73476 chr7 21781773 21781773 A G rs549585242 DNAH11 Nonsynonymous SNV N2715D 0 0.005 0 0 0 2 0 0 0 0 0 0 25.7 73477 chr6 348266 348266 G A rs147464089 DUSP22 Nonsynonymous SNV V143I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 73478 chr6 33660597 33660597 C T rs2229643 ITPR3 Synonymous SNV I2517I 0.032 0.021 0.034 10 37 8 0.026 10 0 0 0 0 18.93 73479 chr6 34494118 34494118 A C rs756893636 PACSIN1 Synonymous SNV P12P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.426 73480 chr7 138264142 138264142 A G rs763047514 TRIM24 Nonsynonymous SNV E783G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 73481 chr7 23212627 23212627 A G rs118185564 KLHL7 Synonymous SNV K480K 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign 6.213 73482 chr7 23313171 23313171 T C rs2268748 GPNMB Synonymous SNV S499S 0.035 0.055 0.037 14 41 21 0.036 11 1 2 0 0 0.349 73483 chr19 7584239 7584239 C T rs192434630 ZNF358 Synonymous SNV D37D 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 9.832 73484 chr6 160482592 160482592 C T rs8191842 IGF2R Nonsynonymous SNV T1107M 0.003 0.016 0 0 4 6 0 0 0 0 0 0 Benign 23.8 73485 chr19 7680337 7680337 G A rs779204465 CAMSAP3 Synonymous SNV P948P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.007 73486 chr6 160517481 160517481 C T rs1803989 IGF2R Synonymous SNV L2222L 0.048 0.06 0.044 23 56 23 0.059 13 3 1 0 0 8.688 73487 chr7 138602626 138602626 G A rs148743027 KIAA1549 Synonymous SNV A582A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.19 73488 chr6 47648033 47648033 A G rs115905625 ADGRF2 Nonsynonymous SNV K233R 0.017 0.003 0.01 13 20 1 0.033 3 1 0 0 0 11.3 73489 chr6 1313847 1313847 C A rs773798384 FOXQ1 Nonsynonymous SNV P303Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.97 73490 chr6 160968875 160968875 A G rs41264850 LPA Synonymous SNV H1750H 0.003 0.016 0 0 4 6 0 0 0 0 0 0 0.168 73491 chr7 139652440 139652440 C T rs6952940 TBXAS1 Nonsynonymous SNV P181S 0.039 0.063 0.034 13 46 24 0.033 10 2 3 0 0 0.024 73492 chr7 143208085 143208085 T - rs545781974 OR10AC1 R307Gfs*34 0.006 0.01 0 0 7 4 0 0 0 0 0 0 73493 chr1 1132069 1132069 T C rs367932523 TTLL10 Synonymous SNV C497C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.209 73494 chr7 140244388 140244388 C T rs369271982 DENND2A Nonsynonymous SNV R786H 0.01 0.01 0.01 3 12 4 0.008 3 0 0 0 0 5.989 73495 chr7 144096158 144096158 C T rs112190116 NOBOX Nonsynonymous SNV D452N 0.024 0.023 0.024 9 28 9 0.023 7 0 0 0 1 Benign/Likely benign 5.156 73496 chr1 116948712 116948712 G A rs850610 ATP1A1-AS1 0 0 0.401 0 0 0 0 118 0 0 42 0 5.439 73497 chr7 29980471 29980471 C T rs35960711 SCRN1 Nonsynonymous SNV S121N 0.037 0.042 0.034 10 44 16 0.026 10 0 0 0 0 10.69 73498 chr6 137245130 137245130 G C SLC35D3 Nonsynonymous SNV E183Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.22 73499 chr7 30065960 30065960 G A rs17150692 FKBP14 Synonymous SNV Y55Y 0.019 0.029 0.014 9 22 11 0.023 4 0 0 0 0 Benign 8.66 73500 chr7 148716263 148716263 G A rs138234783 PDIA4 Nonsynonymous SNV P99L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 33 73501 chr7 148907686 148907686 C T rs114454649 ZNF282 Nonsynonymous SNV P281L 0.009 0.013 0.014 0 10 5 0 4 0 0 0 0 23.5 73502 chr6 142539730 142539730 G A rs148656375 VTA1 Nonsynonymous SNV V207I 0.012 0.013 0.007 9 14 5 0.023 2 0 0 0 0 11.81 73503 chr1 117658290 117658290 C T rs34257983 TRIM45 Synonymous SNV Q440Q 0.018 0.021 0.027 4 21 8 0.01 8 1 0 0 0 10.5 73504 chr6 143081533 143081533 T C rs200019864 HIVEP2 Synonymous SNV G1964G 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.816 73505 chr1 11829056 11829056 A G rs527755652 C1orf167 Synonymous SNV K523K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.36 73506 chr7 149558795 149558795 G A rs199859862 ZNF862 Nonsynonymous SNV S849N 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 12.83 73507 chr6 401641 401641 C T rs41301857 IRF4 Synonymous SNV P320P 0.014 0.018 0.017 4 16 7 0.01 5 0 0 0 1 Benign 12.81 73508 chr6 55739284 55739284 A T rs148766592 BMP5 Nonsynonymous SNV I127K 0.01 0.003 0.017 3 12 1 0.008 5 0 0 0 0 10.91 73509 chr6 41755445 41755445 A G rs958816655 TOMM6 Nonsynonymous SNV S4G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.577 73510 chr6 146126935 146126935 C T rs373306995 FBXO30 Nonsynonymous SNV A203T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.6 73511 chr7 34867124 34867124 G T rs34705969 NPSR1 Nonsynonymous SNV C131F 0.054 0.042 0.054 24 63 16 0.062 16 0 0 0 0 28.8 73512 chr6 41908122 41908122 G A rs3218089 CCND3 Nonsynonymous SNV P53S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.48 73513 chr6 57017075 57017075 A T ZNF451 Nonsynonymous SNV R889W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 73514 chr6 149068645 149068645 G A rs188909023 UST Nonsynonymous SNV G27S 0.016 0.018 0.007 7 19 7 0.018 2 0 0 0 0 9.581 73515 chr6 64574078 64574078 C T rs758899480 EYS 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Pathogenic 25.9 73516 chr6 64574079 64574079 C A rs915505702 EYS Nonsynonymous SNV A2410S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 73517 chr6 42797322 42797322 C T rs142553088 BICRAL Synonymous SNV V417V 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 9.251 73518 chr1 120056677 120056677 C T rs190598307 HSD3B1 Synonymous SNV G177G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 73519 chr6 150210488 150210488 C T rs147799535 RAET1E Synonymous SNV P170P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 9.253 73520 chr6 66204970 66204970 C T rs112609906 EYS Nonsynonymous SNV V112I 0.014 0.003 0.007 9 16 1 0.023 2 0 0 0 0 Benign/Likely benign 7.447 73521 chr1 12318093 12318093 A G rs560759574 VPS13D Nonsynonymous SNV D348G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 73522 chr6 43154017 43154017 C G rs150188923 CUL9 Nonsynonymous SNV Q359E 0.009 0.005 0.014 0 10 2 0 4 0 0 0 0 11.76 73523 chr6 151270231 151270231 G A rs61748674 MTHFD1L Nonsynonymous SNV R564H 0.006 0 0.027 10 7 0 0.026 8 0 0 0 0 31 73524 chr7 15458186 15458186 T C rs28635514 AGMO Synonymous SNV T202T 0.019 0.039 0.037 13 22 15 0.033 11 0 1 0 2 0.466 73525 chr1 12837547 12837547 T C rs200191720 PRAMEF12 Synonymous SNV D419D 0.001 0.003 0.051 0 1 1 0 15 0 0 0 0 0.222 73526 chr1 12837548 12837548 G A rs202100778 PRAMEF12 Nonsynonymous SNV A420T 0.001 0.003 0.051 0 1 1 0 15 0 0 0 0 3.977 73527 chr1 12837570 12837570 G A rs201212047 PRAMEF12 Nonsynonymous SNV G427E 0 0.003 0.051 0 0 1 0 15 0 0 0 0 13.47 73528 chr1 12837571 12837571 A G rs201380993 PRAMEF12 Synonymous SNV G427G 0 0.003 0.051 0 0 1 0 15 0 0 0 0 0.073 73529 chr1 12837634 12837634 T C rs848578 PRAMEF12 Synonymous SNV I448I 0.006 0.013 0.024 3 7 5 0.008 7 0 0 0 0 0.243 73530 chr1 14105049 14105049 C A rs61747667 PRDM2 Nonsynonymous SNV D52E 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 0.002 73531 chr1 14105121 14105121 - GAA rs781354147 PRDM2 E81_D82insE 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 73532 chr7 156798501 156798501 C T MNX1 Nonsynonymous SNV A95T 0.004 0.013 0 10 5 5 0.026 0 0 0 0 0 27.2 73533 chr1 14105382 14105382 T C rs56201064 PRDM2 Synonymous SNV H163H 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 0.007 73534 chr1 14105639 14105639 G A rs17350795 PRDM2 Nonsynonymous SNV S249N 0.013 0.013 0.024 10 15 5 0.026 7 0 0 0 0 0.001 73535 chr6 152679518 152679518 C T rs145911138 SYNE1 Nonsynonymous SNV R3540H 0.011 0.016 0.007 4 13 6 0.01 2 0 0 0 0 Benign 23.6 73536 chr1 14105856 14105856 A G rs61747663 PRDM2 Synonymous SNV E321E 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 0.638 73537 chr1 14105946 14105946 T C rs61747661 PRDM2 Synonymous SNV D351D 0.013 0.013 0.024 10 15 5 0.026 7 0 0 0 0 0.076 73538 chr1 14106330 14106330 C T rs61747664 PRDM2 Synonymous SNV H479H 0.013 0.013 0.024 10 15 5 0.026 7 0 0 0 0 7.162 73539 chr1 14107135 14107135 C G rs116238585 PRDM2 Nonsynonymous SNV P748A 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 20.4 73540 chr1 14107164 14107164 C T rs115572434 PRDM2 Synonymous SNV S757S 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 12.22 73541 chr1 14108988 14108988 A G rs61747665 PRDM2 Synonymous SNV K1365K 0.012 0.01 0.024 9 14 4 0.023 7 0 0 0 0 0.01 73542 chr6 75814998 75814998 C T COL12A1 Nonsynonymous SNV G1566E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 73543 chr7 150911164 150911164 G A rs144972185 ABCF2, LOC114483834 Synonymous SNV L616L 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 8.558 73544 chr19 9066390 9066390 G A rs11667414 MUC16 Nonsynonymous SNV S7019L 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 9.344 73545 chr6 32609323 32609323 G A rs142591955 HLA-DQA1 Nonsynonymous SNV A107T 0.006 0.005 0 2 7 2 0.005 0 2 1 0 1 7.82 73546 chr6 76602282 76602282 G A rs55905349 MYO6 Synonymous SNV E994E 0.004 0.008 0.007 6 5 3 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.903 73547 chr1 145039821 145039821 C A rs7554603 LOC100996724 0 0 0.31 0 0 0 0 91 0 0 0 0 12.35 73548 chr6 15524698 15524698 T C rs16876573 DTNBP1 Synonymous SNV P290P 0.054 0.039 0.044 21 63 15 0.054 13 1 0 1 0 Benign 0.939 73549 chr6 47684557 47684557 C T rs142966293 ADGRF4 Synonymous SNV L650L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.26 73550 chr1 146650058 146650058 T C rs1816802 PDIA3P1 0 0 0.156 0 0 0 0 46 0 0 1 0 1.491 73551 chr1 147091484 147091484 G A BCL9 Nonsynonymous SNV R508Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 73552 chr6 157099982 157099984 GGC - rs752981400 ARID1B G319del 0.003 0 0 3 4 0 0.008 0 0 0 0 0 73553 chr6 157528224 157528224 C T rs142416998 ARID1B Synonymous SNV H1273H 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Uncertain significance 13.99 73554 chr1 147380886 147380886 C T rs3766503 GJA8 Synonymous SNV L268L 0.025 0.016 0.034 2 29 6 0.005 10 1 0 0 0 Benign 11.4 73555 chr7 47892747 47892747 A C PKD1L1 Stop gain Y1646X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 73556 chr6 49704192 49704192 G A rs768387602 CRISP3 Nonsynonymous SNV T57I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.021 73557 chr7 47930296 47930296 T C PKD1L1 Nonsynonymous SNV H840R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 73558 chr6 89814896 89814898 TTC - rs569581969 SRSF12 R119del 0.008 0.018 0.01 2 9 7 0.005 3 0 0 1 0 73559 chr7 103205827 103205827 G C rs2229860 RELN Nonsynonymous SNV P1703R 0.008 0.01 0 8 9 4 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 73560 chr6 51613173 51613173 T C rs142146981 PKHD1 Nonsynonymous SNV I3081V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 73561 chr7 105665004 105665004 C A rs117406926 CDHR3 Nonsynonymous SNV P664T 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 4.259 73562 chr7 2289636 2289636 C T rs35932242 NUDT1 Synonymous SNV D99D 0.013 0.018 0.014 5 15 7 0.013 4 0 0 0 0 0.134 73563 chr6 159398803 159398803 C T rs12204826 RSPH3 Nonsynonymous SNV E388K 0.031 0.036 0.017 12 36 14 0.031 5 0 0 0 0 Benign 13.93 73564 chr6 159401898 159401898 C T rs10455840 RSPH3 Nonsynonymous SNV R302Q 0.032 0.036 0.017 12 37 14 0.031 5 0 0 0 0 Benign 14.15 73565 chr6 159407355 159407355 T C rs34756688 RSPH3 Synonymous SNV T243T 0.031 0.036 0.017 12 36 14 0.031 5 0 0 0 0 Benign 3.312 73566 chr7 107594103 107594103 G C rs373568948 LAMB1 Nonsynonymous SNV T984R 0.002 0.008 0.003 4 2 3 0.01 1 0 0 0 0 23.4 73567 chr6 159420802 159420802 G T rs41267757 RSPH3 Synonymous SNV P69P 0.031 0.036 0.017 12 36 14 0.031 5 0 0 0 0 Benign 10.12 73568 chr6 90577663 90577663 A G CASP8AP2 Nonsynonymous SNV T1552A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 73569 chr19 9577789 9577789 G A rs145243922 ZNF560 Nonsynonymous SNV R506C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 73570 chr7 48626765 48626765 A G rs75519473 ABCA13 Nonsynonymous SNV I4841V 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 Likely benign 0.003 73571 chr7 114619821 114619821 G A rs765606481 MDFIC Nonsynonymous SNV G160S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 73572 chr7 100014021 100014021 C T rs73161761 ZCWPW1 Nonsynonymous SNV E180K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.5 73573 chr19 10370338 10370338 C T rs371517605 MRPL4 Nonsynonymous SNV T262M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 73574 chr7 5104585 5104585 G A rs149739845 RBAK Nonsynonymous SNV D500N 0.008 0.018 0 0 9 7 0 0 0 0 0 0 3.186 73575 chr6 6251120 6251120 T A rs3024477 F13A1 Nonsynonymous SNV Y205F 0.021 0.013 0.01 2 25 5 0.005 3 0 0 0 0 Likely benign 23.1 73576 chr6 56857235 56857235 G A rs201522335 BEND6 Synonymous SNV E60E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 10.63 73577 chr6 39282877 39282877 C T rs9471065 KCNK16 Synonymous SNV A230A 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 3.92 73578 chr6 39283039 39283039 G C rs9471066 KCNK16 Nonsynonymous SNV P277R 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 10.39 73579 chr6 39824105 39824105 T C rs11965120 DAAM2 Synonymous SNV H9H 0.025 0.021 0.024 12 29 8 0.031 7 0 0 0 0 0.942 73580 chr6 39859521 39859521 G A rs112054225 DAAM2-AS1 0.019 0.016 0.01 13 22 6 0.033 3 0 0 0 0 7.638 73581 chr7 100485932 100485932 C T rs755711164 SRRT Nonsynonymous SNV P827L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23.7 73582 chr7 22200233 22200233 T A RAPGEF5 Nonsynonymous SNV T174S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 73583 chr6 4117638 4117638 T A rs7771538 ECI2 Synonymous SNV A281A 0.016 0.01 0.003 5 19 4 0.013 1 0 0 0 0 12.99 73584 chr7 123672457 123672459 GCT - rs374529977 TMEM229A Q200del 0.017 0.026 0.024 9 20 10 0.023 7 0 0 0 0 73585 chr7 5428094 5428094 G A rs767176663 TNRC18 Nonsynonymous SNV P454L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.6 73586 chr7 299843 299843 G A rs150231592 FAM20C Nonsynonymous SNV R551H 0.013 0.016 0.014 4 15 6 0.01 4 0 0 0 0 Benign 19.74 73587 chr1 153750738 153750738 G C rs34074094 SLC27A3 Synonymous SNV V421V 0.032 0.026 0.034 6 37 10 0.015 10 0 0 0 0 9.023 73588 chr6 42074192 42074192 T C C6orf132 Synonymous SNV R486R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.414 73589 chr6 42123323 42123323 G A rs188911829 LOC114841037 Nonsynonymous SNV G16S 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 Uncertain significance 7.953 73590 chr7 6194817 6194817 G C rs1013458121 USP42 Nonsynonymous SNV R1211P 0 0.003 0 0 0 1 0 0 0 0 0 0 32 73591 chr19 11327611 11327611 G A rs200843111 DOCK6 Synonymous SNV C1291C 0.004 0.003 0 4 5 1 0.01 0 0 0 0 1 Benign 7.672 73592 chr7 6230090 6230090 T C CYTH3 Nonsynonymous SNV D36G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 73593 chr1 15441275 15441275 C T rs1055412 TMEM51-AS1 0 0 0.228 0 0 0 0 67 0 0 27 0 0.153 73594 chr6 42833007 42833007 A G rs138763422 BICRAL Synonymous SNV G1021G 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 4.013 73595 chr1 154918364 154918364 G A rs759580785 PBXIP1 Nonsynonymous SNV R441W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 73596 chr6 43112267 43112267 C T rs34764696 PTK7 Nonsynonymous SNV A647V 0.026 0.039 0.048 17 30 15 0.044 14 0 1 0 0 15.12 73597 chr6 7910865 7910865 G A rs183777097 TXNDC5 Nonsynonymous SNV P49S 0.031 0.044 0.017 13 36 17 0.033 5 0 1 0 0 0.001 73598 chr6 7910871 7910873 CCG - rs558989096 TXNDC5 A46del 0.031 0.044 0.017 13 36 17 0.033 5 0 1 0 0 73599 chr6 170594357 170594357 G A rs146213588 DLL1 Synonymous SNV N339N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.773 73600 chr7 65439517 65439517 G A rs150686327 GUSB Synonymous SNV L268L 0.004 0.005 0 6 5 2 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.318 73601 chr7 65557065 65557065 C T rs28940287 ASL Nonsynonymous SNV R359C 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Pathogenic/Likely pathogenic 35 73602 chr7 6561105 6561105 T C rs149364864 GRID2IP Nonsynonymous SNV M347V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.99 73603 chr6 43336853 43336853 C G rs188438053 ZNF318 Nonsynonymous SNV R84P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.2 73604 chr1 155911589 155911589 C T rs142076460 RXFP4 Nonsynonymous SNV P30L 0.007 0 0.007 1 8 0 0.003 2 0 0 0 0 8.39 73605 chr7 70228102 70228102 C G rs754050407 AUTS2 Nonsynonymous SNV A330G 0 0.005 0 0 0 2 0 0 0 0 0 0 14.36 73606 chr19 12985607 12985607 C T MAST1 Nonsynonymous SNV R1546W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 73607 chr7 130353479 130353479 C T rs782265904 COPG2 Synonymous SNV E10E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.25 73608 chr19 12996945 12996945 G A KLF1 Synonymous SNV S33S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.79 73609 chr19 13211843 13211843 C T rs117072928 LYL1 Nonsynonymous SNV R48Q 0.05 0.044 0.054 22 59 17 0.056 16 2 0 1 3 3.679 73610 chr7 100551220 100551220 G C rs79017193 MUC3A Nonsynonymous SNV E601Q 0.032 0.016 0.02 2 38 6 0.005 6 0 0 0 0 0.373 73611 chr6 80717676 80717676 C T rs2230513 TTK Nonsynonymous SNV A97V 0.009 0.008 0.003 5 10 3 0.013 1 0 0 0 0 22.6 73612 chr19 13988181 13988181 - GGAGCCGGTGTCAGCGCC rs371590850 NANOS3 A45_L46insPEPVSA 0.014 0.008 0.017 3 17 3 0.008 5 0 0 0 0 73613 chr6 44243611 44243611 C T rs995427786 TMEM151B Nonsynonymous SNV P350S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 21.5 73614 chr6 88123596 88123596 C T rs117489265 CFAP206 Synonymous SNV F87F 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 12.56 73615 chr19 14023191 14023191 G A rs7250180 CC2D1A Synonymous SNV P84P 0.014 0.005 0.017 3 17 2 0.008 5 0 0 0 0 Benign 11.32 73616 chr19 14029627 14029627 A C rs11883041 CC2D1A Nonsynonymous SNV T339P 0.014 0.005 0.017 3 17 2 0.008 5 0 0 0 0 Benign 2.233 73617 chr6 88299675 88299675 T C rs774923951 RARS2 Star tloss M1? 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Pathogenic 14.08 73618 chr6 44371690 44371690 T C rs11571943 CDC5L Synonymous SNV S228S 0.036 0.036 0.034 10 42 14 0.026 10 0 0 0 0 7.514 73619 chr7 100551445 100551445 C G rs113821643 MUC3A Nonsynonymous SNV P676A 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 3.509 73620 chr7 135047700 135047700 G A CNOT4 Synonymous SNV A622A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.897 73621 chr7 100551533 100551533 G T rs112228251 MUC3A Nonsynonymous SNV G705V 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 9.563 73622 chr6 46659901 46659901 G A rs149419441 TDRD6 Nonsynonymous SNV E1346K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.137 73623 chr7 77408358 77408358 A C rs778179401 RSBN1L Nonsynonymous SNV K805T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.497 73624 chr6 90428585 90428585 G T rs776860718 MDN1 Nonsynonymous SNV S2074R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 73625 chr1 157069133 157069133 C T rs776746126 ETV3L Synonymous SNV S32S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 73626 chr1 157559076 157559076 G A rs78796764 FCRL4 Synonymous SNV L75L 0.006 0.01 0.017 2 7 4 0.005 5 0 0 0 0 2.497 73627 chr6 46977920 46977920 C G rs147609073 ADGRF1 Synonymous SNV P417P 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 7.873 73628 chr1 158226814 158226814 G A rs41310138 CD1A Synonymous SNV K270K 0.02 0.01 0.02 6 23 4 0.015 6 0 0 0 0 9.763 73629 chr6 94120219 94120219 G A rs2278106 EPHA7 Nonsynonymous SNV P278S 0.033 0.036 0.034 18 39 14 0.046 10 2 0 0 1 23.6 73630 chr6 94120639 94120639 T C rs2278107 EPHA7 Nonsynonymous SNV I138V 0.033 0.036 0.031 18 39 14 0.046 9 2 0 0 1 6.848 73631 chr19 14991445 14991445 A G OR7A17 Synonymous SNV C241C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.034 73632 chr7 81334782 81334782 T C rs202215700 HGF Nonsynonymous SNV H645R 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 11.59 73633 chr6 97512577 97512577 A G rs2294763 KLHL32 Nonsynonymous SNV N65S 0.025 0.034 0.017 11 29 13 0.028 5 0 0 0 1 8.577 73634 chr6 26370660 26370660 G A rs12205731 BTN3A2 Nonsynonymous SNV A182T 0.039 0.021 0.02 9 46 8 0.023 6 2 0 1 0 3.127 73635 chr6 90409436 90409436 T G rs533745497 MDN1 Nonsynonymous SNV N2961H 0.003 0 0 0 3 0 0 0 0 0 0 0 4.516 73636 chr7 100551912 100551912 G A rs111656197 MUC3A Synonymous SNV T831T 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 7.685 73637 chr7 100551997 100551997 G T rs112386500 MUC3A Nonsynonymous SNV A860S 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 0.001 73638 chr6 26452211 26452211 C T rs148819206 BTN3A3 Nonsynonymous SNV R233W 0.008 0 0.007 2 9 0 0.005 2 0 0 0 0 22.6 73639 chr1 158582637 158582637 C A rs112884419 SPTA1 Nonsynonymous SNV K2368N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 73640 chr6 2766364 2766375 GGCGACGGCGAT - rs535821800 WRNIP1 G174_D177del 0.036 0.036 0.051 23 42 14 0.059 15 0 1 0 0 73641 chr7 100552149 100552149 T C rs113329327 MUC3A Synonymous SNV S910S 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 0.039 73642 chr7 100552160 100552160 C G rs112516377 MUC3A Nonsynonymous SNV A914G 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 0.004 73643 chr6 27879397 27879397 T C rs34957169 OR2B2 Nonsynonymous SNV Q234R 0.02 0.008 0.017 7 24 3 0.018 5 0 0 1 0 0.001 73644 chr7 878598 878598 G A rs536171212 SUN1 Nonsynonymous SNV V81I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.137 73645 chr6 28121278 28121278 A G rs62620226 ZKSCAN8 Nonsynonymous SNV Q220R 0.02 0.008 0.017 6 23 3 0.015 5 0 0 1 0 16.62 73646 chr1 158655129 158655129 C G rs41273533 SPTA1 Nonsynonymous SNV E11D 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.51 73647 chr7 88964061 88964061 A C rs80006813 ZNF804B Nonsynonymous SNV K589Q 0.014 0.018 0.027 10 16 7 0.026 8 0 0 0 0 0.031 73648 chr7 140373254 140373254 C T rs140971515 ADCK2 Nonsynonymous SNV L42F 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 13.91 73649 chr7 88965108 88965108 C A rs143150959 ZNF804B Nonsynonymous SNV Q938K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.4 73650 chr7 88965150 88965150 A G rs74564278 ZNF804B Nonsynonymous SNV K952E 0.014 0.018 0.027 10 16 7 0.026 8 0 0 0 0 0.293 73651 chr7 88965530 88965530 G A rs146040847 ZNF804B Synonymous SNV P1078P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.42 73652 chr7 100552627 100552627 A G rs112039162 MUC3A Nonsynonymous SNV S1070G 0.026 0.016 0.017 2 30 6 0.005 5 0 0 0 0 23.5 73653 chr7 100552640 100552640 A C rs112964636 MUC3A Nonsynonymous SNV H1074P 0.03 0.016 0.02 2 35 6 0.005 6 0 0 0 0 0.002 73654 chr6 52373050 52373050 G A TRAM2 Synonymous SNV Y179Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.279 73655 chr7 91763629 91763629 C G rs777085204 CYP51A1 Nonsynonymous SNV G17A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 73656 chr1 159804653 159804653 T C rs4656852 SNHG28 0 0 0.143 0 0 0 0 42 0 0 6 0 3.209 73657 chr7 100609631 100609631 C T rs114167943 MUC3A Nonsynonymous SNV A1398V 0.02 0.013 0.003 1 23 5 0.003 1 0 0 0 0 9.884 73658 chr7 142630534 142630534 G A rs4252372 TRPV5 Nonsynonymous SNV A8V 0.042 0.034 0.037 8 49 13 0.021 11 1 0 0 0 0.024 73659 chr6 55925565 55925565 C T rs201203132 COL21A1 Nonsynonymous SNV R192Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 73660 chr7 100679865 100679865 C A rs71557228 MUC17 Nonsynonymous SNV T1723N 0.008 0 0 1 9 0 0.003 0 0 0 0 0 8.847 73661 chr6 56480935 56480935 A C rs763384050 DST Nonsynonymous SNV L2444V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.905 73662 chr1 160802327 160802327 A G rs766372037 CD244 Synonymous SNV N241N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 73663 chr7 97858359 97858359 - AGCCGCCTCCAT TECPR1 G800_C801insYGGG 0 0.003 0 0 0 1 0 0 0 0 0 0 73664 chr7 100779024 100779024 G A rs551975867 SERPINE1 Synonymous SNV A343A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.56 73665 chr7 143573376 143573376 C T rs753871009 TCAF1 Nonsynonymous SNV G109E 0 0.003 0 0 0 1 0 0 0 0 0 0 25 73666 chr7 102448760 102448760 C T rs145625209 FAM185A Nonsynonymous SNV R247C 0.007 0 0 1 8 0 0.003 0 0 0 0 0 15.86 73667 chr7 99686615 99686615 - GGCGGC rs571882095 COPS6 A10_T11insAA 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 73668 chr19 17396344 17396344 G A rs77683348 ANKLE1 Nonsynonymous SNV R457Q 0.016 0.005 0.017 2 19 2 0.005 5 1 0 0 0 32 73669 chr7 103838221 103838221 T C rs2307407 ORC5 Synonymous SNV R131R 0.024 0.01 0.017 8 28 4 0.021 5 1 0 0 1 5.499 73670 chr6 34985558 34985558 C G rs62402705 ANKS1A Nonsynonymous SNV R578G 0.034 0.029 0.027 11 40 11 0.028 8 0 0 0 0 Benign 15.25 73671 chr7 104747899 104747899 G T rs117986340 KMT2E Nonsynonymous SNV G999C 0.014 0.018 0.01 13 17 7 0.033 3 0 1 0 0 27 73672 chr19 17397457 17397460 GTGT - rs58535756 ANKLE1 L591Vfs*17 0.02 0.021 0.024 6 24 8 0.015 7 1 0 0 0 73673 chr6 35088271 35088271 T C rs62404564 TCP11 Nonsynonymous SNV M149V 0.011 0.016 0.02 8 13 6 0.021 6 0 0 0 0 1.572 73674 chr8 101718986 101718986 C T rs375849218 PABPC1 Nonsynonymous SNV A499T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 73675 chr6 35200637 35200637 T C rs17854741 SCUBE3 Synonymous SNV N159N 0.008 0.008 0.014 3 9 3 0.008 4 0 0 0 0 5.807 73676 chr8 103274296 103274296 G C rs34261575 UBR5 Synonymous SNV V2562V 0.003 0.01 0 0 4 4 0 0 0 0 0 0 10.89 73677 chr7 149518041 149518041 C T rs117930273 SSPO 0.026 0.029 0.007 5 30 11 0.013 2 1 1 0 0 10.39 73678 chr7 150217123 150217123 A - rs764413246 GIMAP7 S22Vfs*41 0 0.003 0 1 0 1 0.003 0 0 0 0 0 73679 chr7 48547481 48547481 C T rs76060602 ABCA13 Nonsynonymous SNV R4454C 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 35 73680 chr7 150269553 150269553 A G GIMAP4 Nonsynonymous SNV K146R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.609 73681 chr1 165877194 165877194 - T rs576483016 MIR3658 0 0 0.007 0 0 0 0 2 0 0 0 0 73682 chr19 17918914 17918914 C G rs199643062 B3GNT3 Nonsynonymous SNV P100A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 73683 chr1 167815374 167815374 C T rs115709018 ADCY10 Synonymous SNV K702K 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 14.74 73684 chr19 18245711 18245711 G A rs188187756 MAST3 Nonsynonymous SNV V568I 0.003 0 0 0 3 0 0 0 0 0 0 0 8.709 73685 chr7 1192797 1192797 C A rs80300105 ZFAND2A Nonsynonymous SNV A116S 0.008 0.013 0.014 3 9 5 0.008 4 0 0 0 0 9.57 73686 chr6 75823372 75823372 T C rs35710072 COL12A1 Nonsynonymous SNV I1432V 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 15.17 73687 chr7 150767654 150767654 T C rs11976273 SLC4A2 Synonymous SNV L511L 0.006 0.008 0.014 0 7 3 0 4 0 0 0 0 0.003 73688 chr6 75836083 75836083 T A rs36002196 COL12A1 Synonymous SNV I984I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.93 73689 chr7 150775089 150775089 G A FASTK Nonsynonymous SNV R165W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 73690 chr8 110441620 110441620 A G rs372629402 PKHD1L1 Nonsynonymous SNV I1018V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.134 73691 chr6 76022171 76022171 G A rs35227190 FILIP1 Nonsynonymous SNV T1126M 0.003 0.003 0.017 0 4 1 0 5 0 0 0 0 Benign 21.2 73692 chr8 11172477 11172477 C T rs113268086 MTMR9 Synonymous SNV S339S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.28 73693 chr6 76023414 76023414 A G rs35449948 FILIP1 Synonymous SNV L712L 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 Benign 8.581 73694 chr6 76024711 76024711 T C rs34148186 FILIP1 Synonymous SNV E279E 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 Benign 0.003 73695 chr6 76412455 76412455 A G rs201057204 SENP6 Nonsynonymous SNV K788E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 73696 chr6 39864687 39864687 G A rs532444504 DAAM2 Nonsynonymous SNV R814H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 73697 chr6 39869783 39869783 G T rs115009770 DAAM2 Synonymous SNV R1059R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 9.258 73698 chr6 39881120 39881120 G A rs35825585 MOCS1 Nonsynonymous SNV A146V 0.014 0.016 0.003 2 16 6 0.005 1 1 0 0 0 Benign 12.74 73699 chr1 171130590 171130590 - AC FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 73700 chr7 151860675 151860675 C T rs200804156 KMT2C Nonsynonymous SNV M3329I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.72 73701 chr6 40400823 40400823 C T rs61731039 LRFN2 Synonymous SNV A10A 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 13.6 73702 chr7 151896449 151896449 T C rs201433194 KMT2C Synonymous SNV K1396K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.367 73703 chr6 41011758 41011758 C T rs147405274 TSPO2 Nonsynonymous SNV A132V 0.005 0 0.007 5 6 0 0.013 2 0 0 0 0 21.9 73704 chr7 127239585 127239585 C T rs34941808 FSCN3 Nonsynonymous SNV P424L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 23.5 73705 chr19 20727903 20727903 T C rs112899579 ZNF737 Nonsynonymous SNV Y369C 0.029 0.023 0.017 4 34 9 0.01 5 0 0 1 1 23.1 73706 chr19 20728777 20728777 A C rs7254995 ZNF737 Nonsynonymous SNV C78G 0.029 0.023 0.014 4 34 9 0.01 4 0 0 1 1 0.009 73707 chr7 155592755 155592755 G C SHH Synonymous SNV V162V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 73708 chr6 89868078 89868078 A G rs146562265 PM20D2 Nonsynonymous SNV N316S 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 20.7 73709 chr1 17662705 17662705 G C rs12733102 PADI4 Nonsynonymous SNV R131T 0.022 0.016 0.02 8 26 6 0.021 6 0 0 0 0 3.752 73710 chr1 17668888 17668888 A G rs33981382 PADI4 Nonsynonymous SNV Y309C 0.008 0.008 0.007 0 9 3 0 2 0 0 0 0 Benign 24.2 73711 chr1 17681144 17681144 G A rs35240185 PADI4 Synonymous SNV P424P 0.02 0.021 0.024 7 23 8 0.018 7 0 0 0 0 10.6 73712 chr19 22271717 22271717 A C rs11666876 ZNF257 Nonsynonymous SNV K313Q 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 0.004 73713 chr6 90394685 90394685 T C rs151108078 MDN1 Synonymous SNV L3913L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.814 73714 chr8 125716420 125716420 C T MTSS1 Nonsynonymous SNV V29I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.52 73715 chr7 82451900 82451900 T C rs149360770 PCLO Nonsynonymous SNV K4901R 0.01 0.016 0.014 3 12 6 0.008 4 0 0 0 0 Likely benign 19.28 73716 chr7 70800612 70800612 G A rs145702941 GALNT17 Synonymous SNV P105P 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 2.069 73717 chr7 102462524 102462524 G A rs143350204 FBXL13 Nonsynonymous SNV R616W 0.004 0 0 0 5 0 0 0 0 0 0 0 35 73718 chr6 94066478 94066478 G A rs56140608 EPHA7 Synonymous SNV S427S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 9.51 73719 chr6 43100425 43100425 A T rs34021075 PTK7 Nonsynonymous SNV T418S 0.003 0.008 0.007 3 4 3 0.008 2 1 0 0 0 19.85 73720 chr6 43113101 43113101 C T rs142580489 PTK7 Synonymous SNV N727N 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 16.63 73721 chr6 43153787 43153787 G A rs61743561 CUL9 Nonsynonymous SNV G282E 0.003 0.008 0.007 3 4 3 0.008 2 1 0 0 0 20.2 73722 chr6 43252933 43252933 C G rs574746821 TTBK1 Nonsynonymous SNV P1262R 0.009 0.003 0.007 6 11 1 0.015 2 0 0 0 0 24.2 73723 chr7 7472264 7472264 G T rs201679217 COL28A1 Nonsynonymous SNV P643H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 73724 chr1 181058272 181058272 G T rs113028155 IER5 Synonymous SNV G78G 0.006 0 0.017 0 7 0 0 5 1 0 0 0 0.344 73725 chr1 181058540 181058540 G A rs3747954 IER5 Nonsynonymous SNV V168I 0.018 0 0.044 3 21 0 0.008 13 1 0 2 0 2.635 73726 chr19 33301074 33301074 A G rs144485154 TDRD12 Nonsynonymous SNV T910A 0.015 0.003 0.014 3 18 1 0.008 4 0 0 0 0 11.81 73727 chr1 181058891 181058891 C T rs3747951 IER5 Nonsynonymous SNV P285S 0.044 0.026 0.058 12 52 10 0.031 17 1 0 2 0 22.2 73728 chr6 43970554 43970554 C T C6orf223 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.58 73729 chr1 181144597 181144597 C G rs77633435 LINC01732 0 0 0.228 0 0 0 0 67 0 0 4 0 0.49 73730 chr7 100225112 100225112 G A rs35704760 TFR2 Synonymous SNV D419D 0.009 0.013 0.003 5 11 5 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 73731 chr7 77325715 77325715 A G APTR 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.1 73732 chr7 105254235 105254235 C T rs150948758 ATXN7L1 Nonsynonymous SNV R633Q 0.009 0.021 0.037 3 10 8 0.008 11 0 0 0 0 0.009 73733 chr6 44360533 44360533 G A rs10948136 CDC5L Synonymous SNV A93A 0.031 0.018 0.034 16 36 7 0.041 10 1 0 0 0 14.59 73734 chr7 111462465 111462465 C T rs17158877 DOCK4 Synonymous SNV P961P 0.003 0.005 0.014 1 3 2 0.003 4 0 0 0 0 20.1 73735 chr7 92085763 92085763 C T rs34768413 GATAD1 Nonsynonymous SNV R233W 0.016 0.021 0.017 7 19 8 0.018 5 0 0 0 0 Benign 34 73736 chr7 92985342 92985342 G T rs747107849 VPS50 Nonsynonymous SNV A909S 0.006 0.01 0 0 7 4 0 0 0 0 0 0 26.6 73737 chr8 139672708 139672708 G C rs117256395 COL22A1 Nonsynonymous SNV P1086A 0.002 0.008 0.003 2 2 3 0.005 1 0 1 0 0 15.78 73738 chr19 35510309 35510309 C T rs12974484 GRAMD1A Synonymous SNV R442R 0.006 0 0.003 0 7 0 0 1 0 0 0 0 18.57 73739 chr7 116340262 116340262 A G rs33917957 MET Nonsynonymous SNV N375S 0.012 0.008 0.017 4 14 3 0.01 5 0 0 0 0 Benign 10.73 73740 chr7 11630121 11630121 G C rs768698747 THSD7A Synonymous SNV L473L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.706 73741 chr1 190067679 190067679 T C rs374923227 BRINP3 Synonymous SNV E488E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.003 73742 chr8 142228658 142228658 T C rs141057293 SLC45A4 Nonsynonymous SNV T310A 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.001 73743 chr7 117188841 117188843 GTT - rs397508194 CFTR L454del 0.023 0.023 0 4 27 9 0.01 0 0 0 0 0 73744 chr7 29927688 29927688 C T rs61750796 WIPF3 Synonymous SNV A368A 0.032 0.031 0.014 7 38 12 0.018 4 1 0 0 0 21 73745 chr1 193046072 193046072 C T rs55932617 RO60 Synonymous SNV I51I 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 18.36 73746 chr7 140373628 140373628 A G rs746741219 ADCK2 Synonymous SNV Q166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 73747 chr7 123143161 123143161 T C rs146361404 IQUB Nonsynonymous SNV Q235R 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 0.001 73748 chr7 123143364 123143364 C T rs138085330 IQUB Nonsynonymous SNV E196K 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 14.37 73749 chr8 143599594 143599594 C T rs75573695 ADGRB1 Synonymous SNV S971S 0.005 0.008 0.014 4 6 3 0.01 4 0 0 0 0 13.08 73750 chr8 143784436 143784436 C T rs147502877 LNCOC1 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 1.855 73751 chr6 51524409 51524409 G T rs139014478 PKHD1 Nonsynonymous SNV S3505R 0.009 0.013 0.01 10 11 5 0.026 3 0 1 0 1 Benign/Likely benign 6.594 73752 chr19 36230677 36230677 A G rs140499475 IGFLR1 Nonsynonymous SNV S219P 0.013 0.008 0 12 15 3 0.031 0 0 0 0 1 3.347 73753 chr8 103662546 103662546 G A rs773118542 KLF10 Synonymous SNV H408H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.606 73754 chr19 36278623 36278623 G A rs140219685 ARHGAP33 Synonymous SNV L888L 0.013 0.008 0 12 15 3 0.031 0 0 0 0 1 0.074 73755 chr1 198671653 198671653 A G rs4915154 PTPRC Nonsynonymous SNV T193A 0.003 0 0.02 3 3 0 0.008 6 0 0 0 0 Benign 0.001 73756 chr6 52054023 52054023 G A rs147810050 IL17A Nonsynonymous SNV R134Q 0.007 0.013 0 8 8 5 0.021 0 0 1 0 1 22 73757 chr7 95024007 95024007 G A rs147006695 PON3 Stop gain R32X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 36 73758 chr1 19934724 19934724 C T rs61740467 RPS14P3 0 0 0.095 0 0 0 0 28 0 0 2 0 4.458 73759 chr6 52357071 52357071 A C rs17851770 EFHC1 Nonsynonymous SNV I619L 0.036 0.047 0.044 22 42 18 0.056 13 0 1 0 1 Benign/Likely benign 17.08 73760 chr7 1276066 1276066 - CGC UNCX A357_G358insA 0.003 0 0 1 4 0 0.003 0 0 0 0 0 73761 chr8 10467637 10467637 - CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC RP1L1 E1323_E1324insGTKETEEGLQEEGVQLEGTKVIEGLQEERVQLE 0 0.005 0.003 0 0 2 0 1 0 0 0 0 73762 chr7 124481185 124481185 C A rs35536751 POT1 Nonsynonymous SNV G273V 0.025 0.026 0.017 3 29 10 0.008 5 0 0 0 0 Benign 12.55 73763 chr8 101092400 101092400 C T rs144107646 RGS22 Nonsynonymous SNV D101N 0.009 0.003 0.017 1 11 1 0.003 5 0 0 0 0 0.006 73764 chr1 201489565 201489565 C T rs4345829 RPS10P7 0 0 0.18 0 0 0 0 53 0 0 20 0 7.625 73765 chr1 201778653 201778653 C T rs41270957 NAV1 Synonymous SNV F1069F 0.013 0.005 0.017 7 15 2 0.018 5 0 0 0 0 16.67 73766 chr7 128415071 128415071 C T rs143817931 OPN1SW Nonsynonymous SNV V164I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 73767 chr19 37733732 37733732 T C rs116890167 ZNF383 Synonymous SNV Y198Y 0.022 0.008 0.027 7 26 3 0.018 8 0 0 0 0 0.101 73768 chr7 148705380 148705380 G A rs151131785 PDIA4 Synonymous SNV Y334Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.885 73769 chr7 149462107 149462107 C G rs773529752 ZNF467 Nonsynonymous SNV R495P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 73770 chr8 144995991 144995991 C T rs367665604 PLEC Synonymous SNV A2652A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Likely benign 8.803 73771 chr8 144998683 144998683 C T rs782438887 PLEC Nonsynonymous SNV R1791H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24 73772 chr7 149482641 149482641 C T rs769898183 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 73773 chr19 38375984 38375984 C T rs200596982 WDR87 Nonsynonymous SNV R2776Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.4 73774 chr6 70944257 70944257 T C rs6910140 COL9A1 Nonsynonymous SNV M524V 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 Benign/Likely benign 8.701 73775 chr7 149520553 149520553 G A rs141884347 SSPO 0.017 0.008 0.02 4 20 3 0.01 6 0 0 0 0 12.77 73776 chr8 145095577 145095577 C T rs147284549 SPATC1 Nonsynonymous SNV T292I 0.015 0.016 0.02 3 18 6 0.008 6 0 0 0 0 11.23 73777 chr1 203766895 203766895 C T rs142248061 ZBED6 Nonsynonymous SNV A82V 0.009 0.005 0.01 5 11 2 0.013 3 0 0 0 0 23.2 73778 chr19 38379447 38379447 G A rs189704315 WDR87 Stop gain R1622X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 36 73779 chr7 44797109 44797109 C T rs371185257 ZMIZ2 Synonymous SNV T167T 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 14.99 73780 chr7 130364197 130364197 G C rs144191761 TSGA13 Stop gain Y61X 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 36 73781 chr1 204110547 204110547 C T rs3737657 ETNK2 Nonsynonymous SNV R49Q 0.03 0.013 0.027 18 35 5 0.046 8 0 0 0 1 14.86 73782 chr19 38573139 38573139 G T rs62121430 SIPA1L3 Nonsynonymous SNV G312W 0.06 0.06 0.078 30 70 23 0.077 23 1 1 1 4 Benign 23.5 73783 chr8 120103409 120103409 A G rs770053333 COLEC10 Nonsynonymous SNV D81G 0.003 0.013 0 3 4 5 0.008 0 0 0 0 0 17.21 73784 chr19 38684392 38684392 C T rs143617253 SIPA1L3 Synonymous SNV A1604A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 11.99 73785 chr6 72984123 72984123 C T rs41265501 RIMS1 Nonsynonymous SNV P545L 0.023 0.036 0.034 8 27 14 0.021 10 0 1 0 0 Benign 34 73786 chr6 7411614 7411614 A G rs746841853 RIOK1 Nonsynonymous SNV Y336C 0.003 0 0 4 4 0 0.01 0 0 0 0 0 24.9 73787 chr7 132481248 132481248 G A rs17353298 CHCHD3 Synonymous SNV S205S 0.025 0.018 0.014 11 29 7 0.028 4 0 0 0 0 10.63 73788 chr7 47894518 47894518 T A rs147417448 PKD1L1 Nonsynonymous SNV K1607N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.91 73789 chr8 121301887 121301887 T C rs61754507 COL14A1 Nonsynonymous SNV I1373T 0.006 0.013 0.01 3 7 5 0.008 3 0 0 0 0 17.79 73790 chr7 100552923 100552923 C T MUC3A Nonsynonymous SNV A1133V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 73791 chr7 48046799 48046799 G A SUN3 Nonsynonymous SNV T152I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.489 73792 chr8 124154549 124154549 C T rs116860839 TBC1D31 Synonymous SNV T760T 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 17.88 73793 chr7 100608891 100608891 G A rs146789492 MUC3A Nonsynonymous SNV R1367H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 73794 chr1 206772388 206772388 T C rs116454317 EIF2D Nonsynonymous SNV K297E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.7 73795 chr7 4825072 4825072 C T AP5Z1 Synonymous SNV L164L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.6 73796 chr19 39908657 39908657 G T rs117405645 PLEKHG2 Nonsynonymous SNV G273V 0.02 0.003 0.014 5 23 1 0.013 4 1 0 0 0 27.9 73797 chr8 145738639 145738639 C T rs769977498 RECQL4 Nonsynonymous SNV G809R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.4 73798 chr1 207073701 207073701 C T rs142816743 IL24 Nonsynonymous SNV R36C 0 0 0.017 0 0 0 0 5 0 0 0 0 24 73799 chr8 124525493 124525493 C T rs938169881 FBXO32 Nonsynonymous SNV R54Q 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 34 73800 chr8 146033273 146033273 G T rs142358445 ZNF517 Nonsynonymous SNV Q317H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.5 73801 chr8 146278073 146278073 G A rs201947442 C8orf33 Synonymous SNV R36R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.481 73802 chr7 150846218 150846218 C A rs757031253 GBX1 Nonsynonymous SNV V184L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 73803 chr7 48428715 48428715 A T rs17132289 ABCA13 Nonsynonymous SNV Y3851F 0.039 0.039 0.017 22 46 15 0.056 5 1 0 0 1 12.23 73804 chr8 16859284 16859284 C G FGF20 Nonsynonymous SNV Q86H 0.025 0.031 0 8 29 12 0.021 0 0 0 0 0 18.31 73805 chr8 16859290 16859290 G C FGF20 Nonsynonymous SNV S84R 0.041 0.047 0 13 48 18 0.033 0 0 0 0 0 14.01 73806 chr8 16859291 16859291 C G FGF20 Nonsynonymous SNV S84T 0.045 0.055 0 15 53 21 0.038 0 0 0 0 0 11.44 73807 chr8 16859356 16859356 G C FGF20 Synonymous SNV G62G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 12.41 73808 chr7 102108170 102108170 G A rs75691611 LRWD1 Nonsynonymous SNV R41Q 0.013 0.01 0 2 15 4 0.005 0 0 0 0 0 17.11 73809 chr8 16859359 16859359 G C FGF20 Nonsynonymous SNV H61Q 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 16.76 73810 chr8 16859361 16859361 G T FGF20 Nonsynonymous SNV H61N 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 20.6 73811 chr7 1515698 1515698 G T rs183370246 INTS1 Synonymous SNV G1796G 0.016 0.01 0.014 11 19 4 0.028 4 1 0 0 1 Benign 1.413 73812 chr1 209791929 209791929 G T rs2076222 LAMB3 Nonsynonymous SNV A926D 0.014 0.01 0.037 7 16 4 0.018 11 0 0 0 0 Benign 24.5 73813 chr8 16859367 16859367 - GGCGAAGTCTGTGGGTGAGCCA FGF20 Frameshift insertion H59Wfs*60 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 73814 chr8 16859370 16859370 - TGCAGCTTCCCCTCGATTTGGCCCAGGCGCTCGTTCAGGAAACCTGGGGAGT FGF20 Stop gain A58Tfs*6 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 73815 chr1 209797198 209797198 A G rs2072937 LAMB3 Synonymous SNV S708S 0.014 0.01 0.037 7 16 4 0.018 11 0 0 0 0 Benign 4.261 73816 chr1 209797253 209797253 T C rs2229466 LAMB3 Nonsynonymous SNV N690S 0.014 0.01 0.037 7 16 4 0.018 11 0 0 0 0 Benign 0.003 73817 chr7 151859751 151859751 G A rs138353962 KMT2C Synonymous SNV I3637I 0.014 0.016 0.007 7 16 6 0.018 2 0 0 0 0 Benign 1.246 73818 chr1 209799205 209799205 A G rs2229465 LAMB3 Synonymous SNV Y588Y 0.014 0.01 0.034 7 16 4 0.018 10 0 0 0 0 Benign 0.038 73819 chr1 209807815 209807815 T C rs2235542 LAMB3 Nonsynonymous SNV N181D 0.013 0.008 0.027 7 15 3 0.018 8 0 0 0 0 Benign 5.937 73820 chr8 17612518 17612518 A G rs61733696 MTUS1 Nonsynonymous SNV S267P 0.04 0.052 0.014 11 47 20 0.028 4 2 1 0 0 23.9 73821 chr7 5254218 5254218 G A rs41280678 WIPI2 Synonymous SNV V29V 0.016 0.023 0.014 12 19 9 0.031 4 1 1 0 0 12.17 73822 chr19 40877597 40877597 G C rs139897683 PLD3 Synonymous SNV V232V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.868 73823 chr7 143141474 143141474 G A rs144039157 TAS2R60 Nonsynonymous SNV R310H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 73824 chr1 210012467 210012467 A C rs143030946 UTP25 Synonymous SNV R426R 0.006 0.013 0.034 2 7 5 0.005 10 0 0 0 0 2.039 73825 chr7 54825240 54825240 A G rs746317531 SEC61G Synonymous SNV F14F 0 0.003 0 0 0 1 0 0 0 0 0 0 5.835 73826 chr8 1791597 1791597 C T ARHGEF10 Nonsynonymous SNV P11L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.024 73827 chr19 41245368 41245368 G A rs770271542 ITPKC Nonsynonymous SNV S652N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.15 73828 chr8 130866512 130866512 C T rs376102563 FAM49B Synonymous SNV P26P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.17 73829 chr8 133906136 133906136 G A rs16893332 TG Nonsynonymous SNV R988H 0.007 0.008 0.02 2 8 3 0.005 6 0 0 0 0 Benign 10.66 73830 chr1 213031408 213031408 T C rs3768554 FLVCR1-DT 0 0 0.051 0 0 0 0 15 0 0 0 0 5.764 73831 chr6 97599674 97599674 G A rs138146580 MMS22L Nonsynonymous SNV P869L 0.01 0.018 0.014 3 12 7 0.008 4 1 0 0 1 19.01 73832 chr1 214815863 214815863 A G rs150367049 CENPF Synonymous SNV T1394T 0.004 0 0.017 0 5 0 0 5 0 0 0 0 Benign 0.203 73833 chr7 64452571 64452571 T G rs200952382 ERV3-1 Nonsynonymous SNV Q278H 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 21.2 73834 chr7 100205703 100205703 C T rs117595600 PCOLCE Nonsynonymous SNV R443W 0.009 0.01 0.007 6 11 4 0.015 2 0 0 0 0 22.9 73835 chr7 18687542 18687542 A T rs35614472 HDAC9 Synonymous SNV P310P 0.014 0.018 0.007 2 16 7 0.005 2 0 1 0 0 Benign 1.055 73836 chr7 6545535 6545535 C T rs530515112 GRID2IP Nonsynonymous SNV G850R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 73837 chr8 13425156 13425156 A C rs187157511 C8orf48 Nonsynonymous SNV K219T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26 73838 chr1 216246577 216246577 A G rs766341047 USH2A Nonsynonymous SNV S1880P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 73839 chr7 20198633 20198633 C G MACC1 Nonsynonymous SNV E451Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.235 73840 chr7 100488638 100488638 G T rs17886728 ACHE Nonsynonymous SNV P599T 0.006 0 0.003 6 7 0 0.015 1 0 0 0 0 3.306 73841 chr8 139890248 139890248 C T rs888174754 COL22A1 Nonsynonymous SNV G135S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.75 73842 chr19 44174249 44174249 C T rs62639324 PLAUR Synonymous SNV P8P 0.014 0.016 0.02 10 16 6 0.026 6 0 1 0 0 Benign 12.56 73843 chr7 149462126 149462126 A C rs774964589 ZNF467 Nonsynonymous SNV C489G 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 24.8 73844 chr8 141716284 141716284 G A rs10100025 PTK2 Synonymous SNV P31P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 8.875 73845 chr7 21677278 21677278 G T rs72657327 DNAH11 Nonsynonymous SNV C1592F 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Uncertain significance 29.1 73846 chr7 149489813 149489813 C T rs201750623 SSPO 0.012 0.008 0 3 14 3 0.008 0 0 0 0 0 18.01 73847 chr7 149516516 149516516 - CGT rs559607566 SSPO 0.003 0 0.01 0 4 0 0 3 0 0 0 0 73848 chr1 22211934 22211934 A T rs377202096 HSPG2 Synonymous SNV R363R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 73849 chr1 22214040 22214040 G A rs41310388 HSPG2 Synonymous SNV P277P 0.022 0.013 0.024 1 26 5 0.003 7 1 0 0 0 Benign 8.611 73850 chr7 127965924 127965924 T G rs117445229 RBM28 Nonsynonymous SNV M243L 0.022 0.023 0.031 6 26 9 0.015 9 0 0 0 0 15.71 73851 chr8 143560847 143560847 C T rs200224393 ADGRB1 Synonymous SNV P575P 0.003 0.013 0.003 4 3 5 0.01 1 0 1 0 0 Benign 7.306 73852 chr7 150164111 150164111 G A rs149849472 GIMAP8 Nonsynonymous SNV E109K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 73853 chr7 128484065 128484065 T A rs746977392 FLNC Synonymous SNV A979A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 6.548 73854 chr7 128493596 128493596 G C rs747894981 FLNC Synonymous SNV G2061G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 3.513 73855 chr1 223441950 223441950 T G rs61737414 SUSD4 Synonymous SNV L143L 0.015 0.018 0.024 1 18 7 0.003 7 0 0 0 0 9.962 73856 chr7 129825030 129825030 A G rs118139998 TMEM209 0.014 0.016 0 8 16 6 0.021 0 0 0 0 0 25.3 73857 chr8 144162639 144162639 A G rs117342075 LY6L Nonsynonymous SNV S29G 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 23.2 73858 chr7 155255100 155255100 G A rs145749730 EN2 Synonymous SNV P240P 0.01 0.005 0.01 8 12 2 0.021 3 0 0 0 0 10.25 73859 chr1 225525057 225525057 G T rs570296060 DNAH14 Synonymous SNV L3390L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.34 73860 chr8 144403532 144403532 T C rs200414597 TOP1MT Nonsynonymous SNV K231E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 73861 chr7 134136363 134136363 C T rs756570400 AKR1B1 Nonsynonymous SNV R70H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 73862 chr8 144358621 144358621 A G rs372738020 GLI4 Nonsynonymous SNV I260V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.708 73863 chr7 156971453 156971453 G A rs78015355 UBE3C Synonymous SNV S176S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.026 73864 chr7 29539577 29539577 C T rs145906178 CHN2 Synonymous SNV D142D 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 13.43 73865 chr7 134719421 134719421 C T rs17804854 AGBL3 Nonsynonymous SNV T360I 0.002 0 0.01 0 2 0 0 3 0 0 0 0 28 73866 chr7 82546013 82546013 G A rs62461415 PCLO Synonymous SNV L3763L 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 10.45 73867 chr7 82784833 82784833 - GCTGAGCTGGAGGCTTAGCAGGACCAAGAG rs71074627 PCLO Q374_Q375insPLGPAKPPAQ 0.019 0.036 0.007 7 22 14 0.018 2 1 0 0 0 73868 chr19 45385582 45385582 G A rs751066324 NECTIN2 Nonsynonymous SNV R386Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 73869 chr7 158896464 158896464 G A rs535354227 VIPR2 Nonsynonymous SNV P114L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.077 73870 chr7 16502390 16502390 T C rs143801072 SOSTDC1 Nonsynonymous SNV N135S 0.023 0.018 0.027 7 27 7 0.018 8 0 0 0 0 7.405 73871 chr19 45662215 45662215 C T rs188197202 NKPD1 Nonsynonymous SNV V79I 0.009 0 0.007 2 10 0 0.005 2 0 0 0 0 3.068 73872 chr7 138391440 138391440 A G ATP6V0A4 Nonsynonymous SNV Y818H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 73873 chr7 34888229 34888229 C T rs768547115 NPSR1 Nonsynonymous SNV P261S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.4 73874 chr7 20762809 20762809 C A rs147792312 ABCB5 Nonsynonymous SNV N419K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.82 73875 chr7 20767954 20767954 G A rs17143304 ABCB5 Nonsynonymous SNV A470T 0.024 0.013 0.02 12 28 5 0.031 6 0 0 0 0 29.7 73876 chr7 38424430 38424430 G A rs147817118 AMPH Nonsynonymous SNV R651C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 34 73877 chr7 38765873 38765873 - CCTGGTCCACGGTTCTTAGCACTG rs754564437 VPS41 A823_I824insKNRGPGSA 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 73878 chr7 40027445 40027445 G T rs34910103 CDK13 Nonsynonymous SNV A487S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Likely benign 16.8 73879 chr7 4051841 4051841 C T rs147964405 SDK1 Synonymous SNV N798N 0.014 0.003 0.003 4 16 1 0.01 1 0 0 0 0 8.729 73880 chr8 144998620 144998620 C T rs147838690 PLEC Nonsynonymous SNV R1812Q 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 14.68 73881 chr7 40900074 40900074 A T rs376482222 SUGCT Nonsynonymous SNV H397L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.13 73882 chr19 47978739 47978739 C T rs1046273 KPTN Synonymous SNV R359R 0.026 0.039 0.003 15 31 15 0.038 1 0 0 0 1 Benign 13.16 73883 chr8 42044965 42044965 G A rs2020921 PLAT Nonsynonymous SNV R118W 0.011 0.031 0.014 4 13 12 0.01 4 0 0 1 0 23.3 73884 chr19 48248864 48248864 C A rs1042401 NOP53 Nonsynonymous SNV S16R 0.017 0.01 0.014 3 20 4 0.008 4 0 0 0 0 23.2 73885 chr1 228538568 228538568 C G rs142615706 OBSCN Nonsynonymous SNV R6115G 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 Likely benign 27.4 73886 chr1 228596105 228596105 G A rs115603275 TRIM17 Synonymous SNV L411L 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 1.777 73887 chr7 142988726 142988726 G A rs4647288 CASP2 Synonymous SNV L25L 0.039 0.049 0.031 26 46 19 0.067 9 2 0 0 2 11.03 73888 chr7 142991361 142991361 G C rs4647297 CASP2 Nonsynonymous SNV V141L 0.065 0.078 0.078 46 76 30 0.118 23 3 0 1 3 13.02 73889 chr1 22970535 22970535 T A rs371546823 C1QC Nonsynonymous SNV S7T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 0.008 73890 chr1 22970536 22970536 C A rs377290060 C1QC Nonsynonymous SNV S7Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 1.856 73891 chr7 44148893 44148893 G A rs75175945 AEBP1 Nonsynonymous SNV R368Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.65 73892 chr8 100990177 100990177 A G rs7841915 RGS22 Synonymous SNV L982L 0.041 0.034 0.031 19 48 13 0.049 9 1 0 0 0 0.003 73893 chr7 29994945 29994945 C G rs75604334 SCRN1 Nonsynonymous SNV R64T 0.019 0.018 0.017 2 22 7 0.005 5 0 0 0 0 20.3 73894 chr1 229783446 229783446 G A rs201344904 URB2 Nonsynonymous SNV V1366I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 73895 chr8 101232513 101232513 G A rs117747863 SPAG1 Synonymous SNV L514L 0 0.003 0.017 0 0 1 0 5 0 0 0 0 Benign 11.83 73896 chr7 44610412 44610412 C T rs150431895 DDX56 Nonsynonymous SNV V319I 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 16.68 73897 chr8 145535881 145535881 C A rs78202224 HSF1 Nonsynonymous SNV P365T 0.037 0.042 0.031 14 44 16 0.036 9 7 2 1 2 5.045 73898 chr7 30880413 30880413 G A rs34970833 MINDY4 Nonsynonymous SNV C465Y 0.026 0.01 0.024 7 31 4 0.018 7 0 1 0 0 22.7 73899 chr8 10388876 10388876 C G rs140619099 PRSS55 Nonsynonymous SNV A140G 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 11.59 73900 chr1 232564162 232564162 T C rs34110867 SIPA1L2 Nonsynonymous SNV R1469G 0.021 0.023 0.031 6 25 9 0.015 9 0 0 0 0 24.5 73901 chr8 145697599 145697599 C T rs367718973 KIFC2 Nonsynonymous SNV R522W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 73902 chr8 6566351 6566351 C G rs62497278 AGPAT5 Synonymous SNV L54L 0.083 0.065 0.078 20 98 25 0.051 23 5 0 1 2 13.05 73903 chr8 145756173 145756173 G A rs112342135 ARHGAP39 Synonymous SNV Y990Y 0.009 0.013 0.017 0 11 5 0 5 0 0 0 0 7.471 73904 chr8 10465063 10465063 G T rs183570817 RP1L1 Nonsynonymous SNV A2182D 0.014 0.018 0.017 12 16 7 0.031 5 0 0 1 0 Benign 1.733 73905 chr7 32598816 32598816 C T rs52793627 AVL9 Nonsynonymous SNV P319S 0.024 0.016 0.024 5 28 6 0.013 7 1 0 0 0 20.5 73906 chr8 145737373 145737373 C T rs36078464 RECQL4 Nonsynonymous SNV G1105D 0.015 0.016 0.014 4 18 6 0.01 4 0 0 0 0 Benign/Likely benign 10.37 73907 chr1 235600741 235600741 A G rs6666168 TBCE Synonymous SNV L243L 0.03 0.039 0.014 7 35 15 0.018 4 2 1 0 0 Likely benign 0.556 73908 chr7 102937914 102937914 C T rs138251541 PMPCB Nonsynonymous SNV A3V 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 22.9 73909 chr19 49445774 49445774 C T rs10423255 DHDH Stop gain Q233X 0.051 0.044 0.058 34 60 17 0.087 17 1 0 0 3 27 73910 chr19 49447713 49447713 G A rs3765148 DHDH Nonsynonymous SNV G282R 0.055 0.044 0.058 38 65 17 0.097 17 2 0 0 3 23.8 73911 chr1 236157123 236157123 T C rs17854360 NID1 Synonymous SNV A859A 0.009 0.013 0.007 4 10 5 0.01 2 0 0 0 0 Benign 1.523 73912 chr8 145773779 145773779 C T rs117441152 ARHGAP39 Nonsynonymous SNV G231S 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 23 73913 chr8 10480163 10480163 G A rs200762007 RP1L1 Synonymous SNV G183G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.843 73914 chr7 106508535 106508535 C T PIK3CG Nonsynonymous SNV R177C 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 28.1 73915 chr7 4830992 4830992 G A rs368571200 AP5Z1 Synonymous SNV R644R 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.725 73916 chr7 106509008 106509008 C T rs140329142 PIK3CG Synonymous SNV G334G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.826 73917 chr8 10583352 10583352 C T rs199790833 SOX7 Nonsynonymous SNV V355I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.512 73918 chr7 107188772 107188772 G A rs150351852 COG5 Nonsynonymous SNV L131F 0.009 0.003 0 5 11 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 73919 chr8 110099771 110099771 C A rs5774 TRHR Nonsynonymous SNV N10K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.14 73920 chr7 48318702 48318704 AAT - rs200644776 ABCA13 E2637_I2638delinsD 0.021 0.023 0.02 18 25 9 0.046 6 0 0 0 0 73921 chr1 236740135 236740135 T C rs16833953 HEATR1 Nonsynonymous SNV D957G 0.029 0.021 0.031 15 34 8 0.038 9 0 1 0 0 12.63 73922 chr8 17419461 17419461 G A rs56335308 SLC7A2 Nonsynonymous SNV V505M 0.02 0.026 0.034 8 24 10 0.021 10 0 0 1 0 5.626 73923 chr7 30693178 30693178 C A CRHR2 Nonsynonymous SNV Q377H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 73924 chr8 17422481 17422481 T C rs55755124 SLC7A2 Synonymous SNV Y601Y 0.025 0.031 0.037 8 29 12 0.021 11 0 0 1 0 7.138 73925 chr1 23697617 23697617 T C rs638722 ZNF436-AS1 0 0 0.177 0 0 0 0 52 0 0 4 0 13.6 73926 chr8 110539179 110539179 C T rs201403257 PKHD1L1 Synonymous SNV S4217S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.847 73927 chr7 30931713 30931713 G A rs539715058 INMT-MINDY4 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 2.105 73928 chr8 87588042 87588042 G C rs142846289 CNGB3 Nonsynonymous SNV A807G 0.006 0.016 0.014 1 7 6 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 19.52 73929 chr1 24021224 24021224 C T rs8880 RPL11 Synonymous SNV I113I 0.014 0.013 0.02 3 17 5 0.008 6 0 0 0 0 Benign 12.83 73930 chr8 118842576 118842576 T C rs748083628 EXT1 Nonsynonymous SNV I393V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.681 73931 chr19 50251422 50251422 C T rs34701020 TSKS Nonsynonymous SNV E167K 0.029 0.021 0.024 7 34 8 0.018 7 0 0 0 0 19.5 73932 chr7 150500832 150500832 C T rs76937000 TMEM176A Nonsynonymous SNV S156L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 12.56 73933 chr8 119936669 119936669 A G rs1804854 TNFRSF11B Synonymous SNV L384L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.032 73934 chr7 44685048 44685048 A G rs11557280 OGDH Synonymous SNV E115E 0.021 0.023 0.041 11 25 9 0.028 12 0 0 1 0 Benign 7.387 73935 chr8 92374629 92374629 G A rs145779342 SLC26A7 Nonsynonymous SNV V154M 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign 26.7 73936 chr7 116963030 116963030 A C rs145839592 WNT2 Nonsynonymous SNV L5R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 19.99 73937 chr19 50730169 50730169 A G rs200424400 MYH14 Nonsynonymous SNV I266V 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 73938 chr1 242162309 242162309 A G MAP1LC3C Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 73939 chr8 20005154 20005154 G A rs17222183 SLC18A1 Synonymous SNV Y398Y 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.675 73940 chr8 21984981 21984981 C T rs200125747 HR Nonsynonymous SNV G325D 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Uncertain significance 13.43 73941 chr19 50826292 50826292 G A KCNC3 Nonsynonymous SNV P564S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 73942 chr7 150730712 150730712 G A rs6975981 ABCB8 Nonsynonymous SNV S39N 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 Benign 2.011 73943 chr8 20073976 20073976 C A rs138887483 ATP6V1B2 Synonymous SNV I377I 0.014 0.013 0.02 0 16 5 0 6 1 0 0 0 Benign 22.5 73944 chr8 121220518 121220518 G A rs61754504 COL14A1 Nonsynonymous SNV M413I 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 24.7 73945 chr7 45123858 45123977 CGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGATGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAG - NACAD A601_S640del 0.021 0.021 0.02 9 25 8 0.023 6 0 0 0 0 73946 chr7 122765656 122765656 T A rs200260956 SLC13A1 Nonsynonymous SNV T403S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.32 73947 chr8 124408455 124408455 T C ATAD2 Nonsynonymous SNV K48R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.458 73948 chr7 150920919 150920919 G A rs11538632 ABCF2, LOC114483834 Synonymous SNV L189L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.95 73949 chr7 150935761 150935761 C T rs61745936 CHPF2 Synonymous SNV S771S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 6.862 73950 chr8 99033441 99033441 G A rs61729731 MATN2 Nonsynonymous SNV V569I 0.009 0.013 0.01 1 11 5 0.003 3 0 0 0 0 16.52 73951 chr8 99135639 99135639 G A rs61743394 POP1 Nonsynonymous SNV G25D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 21.7 73952 chr19 51447008 51447008 G A rs200795065 KLK5 Nonsynonymous SNV S254F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.935 73953 chr7 151848641 151848641 A G rs369593556 KMT2C Synonymous SNV S4184S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 9.982 73954 chr7 3990565 3990565 C T rs117632561 SDK1 Synonymous SNV G286G 0.011 0.01 0.027 4 13 4 0.01 8 0 0 0 0 Benign 8.15 73955 chr7 4014039 4014039 C T rs36103726 SDK1 Nonsynonymous SNV S619L 0.015 0.018 0.027 5 18 7 0.013 8 0 0 0 0 Benign 19.07 73956 chr8 124985735 124985735 C T FER1L6 Nonsynonymous SNV T170I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 20.9 73957 chr7 6456338 6456338 G A rs745869142 DAGLB Synonymous SNV A320A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.168 73958 chr8 23225606 23225606 C T rs144452398 LOXL2 Nonsynonymous SNV D87N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.9 73959 chr19 51875732 51875732 G A rs147628882 NKG7 Synonymous SNV L20L 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 1.806 73960 chr7 127983775 127983775 T C rs148700418 RBM28 Nonsynonymous SNV S25G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.5 73961 chr7 127991090 127991090 T C rs359666 PRRT4 Synonymous SNV S840S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.675 73962 chr7 48315103 48315103 C T rs916495425 ABCA13 Nonsynonymous SNV S1947F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 73963 chr7 44119261 44119261 G A rs145419583 POLM Nonsynonymous SNV S184L 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 26.1 73964 chr9 104449175 104449175 C T rs763495503 GRIN3A Nonsynonymous SNV R336Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 73965 chr8 23186055 23186055 G A rs148067305 LOXL2 Synonymous SNV G330G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 73966 chr8 12958127 12958127 C T rs138711469 DLC1 Synonymous SNV K62K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.284 73967 chr7 44198714 44198714 C T rs763550503 GCK Synonymous SNV A2A 0.003 0 0 0 4 0 0 0 0 0 0 0 10.36 73968 chr9 107266577 107266577 T C rs28553883 OR13F1 Nonsynonymous SNV F12L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.4 73969 chr7 128491604 128491604 G A rs202128602 FLNC Nonsynonymous SNV A1889T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.47 73970 chr7 16676082 16676082 - A rs34755603 ANKMY2 0.052 0.031 0.116 33 61 12 0.085 34 11 2 4 6 73971 chr7 45123823 45123823 T A rs7809895 NACAD Nonsynonymous SNV E652D 0.032 0.013 0.014 13 38 5 0.033 4 4 0 0 1 0.002 73972 chr7 129946661 129946661 C T rs770077714 CPA4 Nonsynonymous SNV T176I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 73973 chr7 20767981 20767981 T C rs117749018 ABCB5 Nonsynonymous SNV F479L 0.019 0.023 0.017 11 22 9 0.028 5 0 0 0 0 21.3 73974 chr9 108366499 108366499 G A rs34006675 FKTN Nonsynonymous SNV G125S 0.01 0.018 0.024 2 12 7 0.005 7 1 0 0 0 Benign/Likely benign 14.89 73975 chr9 111881833 111881833 G A rs140147240 TMEM245 Synonymous SNV L121L 0.018 0.031 0.031 6 21 12 0.015 9 0 0 0 0 2.29 73976 chr9 112144686 112144686 T C rs146486489 PTPN3 Synonymous SNV A476A 0.012 0.008 0.017 8 14 3 0.021 5 0 0 0 0 8.46 73977 chr9 112705067 112705067 G A PALM2AKAP2 Nonsynonymous SNV G168R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 73978 chr8 140631251 140631251 G A rs144282162 KCNK9 Synonymous SNV F125F 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 4.854 73979 chr8 3165949 3165949 G C rs141170475 CSMD1 Synonymous SNV T1236T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 0.264 73980 chr7 134880931 134880931 C T rs2288240 WDR91 Synonymous SNV E403E 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 16.19 73981 chr7 23300352 23300352 - CCA rs777220414 GPNMB P330_R331insP 0.001 0 0 0 1 0 0 0 0 0 0 0 73982 chr1 25554719 25554719 G A rs35324907 SYF2 Nonsynonymous SNV A47V 0.006 0.005 0.02 0 7 2 0 6 0 0 0 0 23 73983 chr9 114146832 114146832 C T rs16916040 ECPAS Synonymous SNV A1217A 0.033 0.031 0.024 8 39 12 0.021 7 1 0 0 0 21.5 73984 chr8 33361280 33361280 C T rs17850186 TTI2 Synonymous SNV P336P 0.02 0.029 0.041 5 24 11 0.013 12 0 0 0 0 11.57 73985 chr9 114172438 114172438 C T rs61744546 ECPAS Synonymous SNV L811L 0.032 0.031 0.02 8 37 12 0.021 6 1 0 0 0 15.18 73986 chr7 136700385 136700385 A G rs142006633 CHRM2 Nonsynonymous SNV N258S 0.011 0.005 0 2 13 2 0.005 0 0 0 0 0 Benign/Likely benign 0.011 73987 chr9 114174384 114174384 C T rs16916079 ECPAS Synonymous SNV A708A 0.032 0.031 0.02 8 37 12 0.021 6 1 0 0 0 18.93 73988 chr9 114182353 114182353 C T rs16916080 ECPAS Synonymous SNV V501V 0.033 0.031 0.024 8 39 12 0.021 7 1 0 0 0 15.56 73989 chr1 26149357 26149358 CT - rs3033467 LOC646471 0 0 0.354 0 0 0 0 104 0 0 50 0 73990 chr9 114184477 114184477 C T rs868405 ECPAS Synonymous SNV R423R 0.033 0.031 0.024 8 39 12 0.021 7 1 0 0 0 14.05 73991 chr19 53518627 53518627 G C rs1661940 ERVV-1 Synonymous SNV T428T 0.032 0.023 0.024 11 37 9 0.028 7 0 0 0 0 1.891 73992 chr7 89793832 89793832 C T rs61737475 STEAP1 Synonymous SNV H268H 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 Benign 13.23 73993 chr8 144163855 144163855 C T rs149702320 LY6L Synonymous SNV R68R 0.008 0.01 0.003 6 9 4 0.015 1 0 0 0 0 11.1 73994 chr8 41566327 41566327 G A rs760560030 ANK1 Nonsynonymous SNV S656L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 73995 chr7 91630179 91630179 A G rs767404316 AKAP9 Synonymous SNV V316V 0.005 0 0 5 6 0 0.013 0 0 0 0 0 Benign/Likely benign 0.166 73996 chr7 72754645 72754645 G A rs56301507 FKBP6 Synonymous SNV L168L 0.058 0.055 0.051 12 68 21 0.031 15 1 0 0 0 3.802 73997 chr8 41789825 41789825 G A rs140266175 KAT6A Synonymous SNV N1971N 0.009 0.01 0.01 3 10 4 0.008 3 0 0 0 0 Benign/Likely benign 0.305 73998 chr8 52321238 52321238 G A rs141024159 PXDNL Synonymous SNV A982A 0.026 0.029 0.024 7 31 11 0.018 7 2 0 0 0 Benign 2.898 73999 chr7 55238037 55238037 C A rs140443314 EGFR Nonsynonymous SNV L640I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 not provided 5.62 74000 chr7 91726960 91726960 G A rs61757664 AKAP9 Nonsynonymous SNV E3487K 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 74001 chr7 30825544 30825544 C A rs75843887 MINDY4 Nonsynonymous SNV S200Y 0.011 0.013 0.014 9 13 5 0.023 4 0 0 0 0 14.25 74002 chr7 92730678 92730678 A G rs144380633 SAMD9 Nonsynonymous SNV I1578T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 17.56 74003 chr7 31146223 31146223 C A rs35661943 ADCYAP1R1 Synonymous SNV T423T 0.02 0.01 0.037 15 23 4 0.038 11 0 1 0 0 19.72 74004 chr7 92735182 92735182 T C rs74650267 SAMD9 Nonsynonymous SNV T77A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 74005 chr1 31898687 31898687 C T rs2275434 SERINC2 Synonymous SNV I183I 0.026 0.026 0.031 11 31 10 0.028 9 0 0 0 0 13.04 74006 chr8 144940935 144940935 C T rs782473994 EPPK1 Nonsynonymous SNV E2163K 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 13.25 74007 chr8 56436499 56436499 G C XKR4 Nonsynonymous SNV V556L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 74008 chr19 54849399 54849399 T C rs10419832 LILRA4 Nonsynonymous SNV I155V 0.032 0.029 0.024 9 38 11 0.023 7 0 0 0 0 0.003 74009 chr9 118950069 118950069 A G rs142637850 PAPPA Nonsynonymous SNV K351R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 25.3 74010 chr7 7712945 7712950 AGCAGC - UMAD1 0.017 0.003 0 4 20 1 0.01 0 0 0 0 0 74011 chr7 98495408 98495408 G C rs55702649 TRRAP Synonymous SNV V184V 0.016 0.013 0.034 5 19 5 0.013 10 0 0 0 0 7.671 74012 chr1 32674927 32674927 T C rs144804850 DCDC2B Nonsynonymous SNV V78A 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 26.2 74013 chr8 6479055 6479055 G A rs200401940 MCPH1 Synonymous SNV S672S 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 2.85 74014 chr8 6679469 6679469 G A rs760918181 XKR5 Synonymous SNV L243L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 74015 chr1 33236255 33236255 G A rs116386430 KIAA1522 Nonsynonymous SNV R433H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 74016 chr7 4002309 4002309 C G rs150503747 SDK1 Nonsynonymous SNV Q419E 0.025 0.018 0 12 29 7 0.031 0 1 1 0 0 Likely benign 7.279 74017 chr7 148511171 148511171 C T rs41277437 EZH2 Synonymous SNV P521P 0.008 0.003 0 9 9 1 0.023 0 0 0 0 0 Benign 17.64 74018 chr8 145641411 145641411 G A rs187080747 SLC39A4 Nonsynonymous SNV P61L 0.01 0.008 0.014 7 12 3 0.018 4 0 0 0 0 Conflicting interpretations of pathogenicity 6.519 74019 chr7 83634712 83634712 C T rs147436181 SEMA3A Nonsynonymous SNV V435I 0.029 0.021 0.007 6 34 8 0.015 2 1 0 0 0 Benign 23.4 74020 chr7 43519279 43519279 G A rs374489291 HECW1 Nonsynonymous SNV R1023H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 74021 chr8 77754976 77754976 T C ZFHX4 Synonymous SNV N1160N 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 0.011 74022 chr1 35442426 35442426 A C LOC653160 0 0 0.003 0 0 0 0 1 0 0 0 0 2.388 74023 chr1 3548050 3548050 G A rs76211155 WRAP73 Nonsynonymous SNV S407L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.6 74024 chr8 81399527 81399527 T G rs185916023 ZBTB10 Nonsynonymous SNV V161G 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 11.43 74025 chr7 87407257 87407257 G A rs143228485 RUNDC3B Synonymous SNV E314E 0.003 0 0 0 4 0 0 0 0 0 0 0 9.353 74026 chr8 10466089 10466089 G C rs77968698 RP1L1 Nonsynonymous SNV A1840G 0.066 0.065 0.037 20 78 25 0.051 11 2 1 1 1 Benign 16.48 74027 chr1 36636672 36636672 G A rs143240955 MAP7D1 Synonymous SNV P49P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.87 74028 chr8 10466161 10466161 C T rs79019225 RP1L1 Nonsynonymous SNV G1816D 0.066 0.065 0.041 19 78 25 0.049 12 2 1 1 1 Benign 5.954 74029 chr9 126125327 126125327 G A rs138381817 CRB2 Nonsynonymous SNV R93H 0.011 0.013 0.014 8 13 5 0.021 4 0 0 1 0 Benign 22.9 74030 chr7 45007333 45007333 C T rs150039567 MYO1G Synonymous SNV T551T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 17.34 74031 chr8 145999038 145999038 G A ZNF34 Synonymous SNV T392T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.512 74032 chr8 77768498 77768498 G A rs142555710 ZFHX4 Nonsynonymous SNV G3114D 0.017 0.021 0.007 4 20 8 0.01 2 0 0 0 0 24.2 74033 chr19 55952023 55952023 T G rs78953711 SHISA7 Synonymous SNV R261R 0.01 0.013 0 1 12 5 0.003 0 0 1 0 0 10.84 74034 chr19 55995401 55995401 T C rs112407198 ZNF628 Synonymous SNV T947T 0.016 0.01 0.02 6 19 4 0.015 6 0 0 0 0 0.015 74035 chr7 45614400 45614400 C G rs200597993 ADCY1 Synonymous SNV P86P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.22 74036 chr1 39904990 39904990 A G MACF1 Nonsynonymous SNV I4030V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 74037 chr8 17823514 17823514 G C rs200466438 PCM1 Nonsynonymous SNV K954N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.3 74038 chr8 17919807 17919807 A G rs141068211 ASAH1 Nonsynonymous SNV M204T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.95 74039 chr8 97157223 97157223 C G rs148861809 GDF6 Synonymous SNV S312S 0.027 0.049 0.031 11 32 19 0.028 9 2 0 0 0 Benign/Likely benign 4.014 74040 chr8 98289329 98289329 G A rs34070970 TSPYL5 Synonymous SNV I248I 0.033 0.036 0.041 8 39 14 0.021 12 0 0 1 0 8.957 74041 chr7 150911997 150911997 G A ABCF2, LOC114483834 Synonymous SNV L568L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.39 74042 chr1 41976375 41976375 C T rs200138511 HIVEP3 Nonsynonymous SNV R2322Q 0.006 0.01 0.014 2 7 4 0.005 4 0 0 0 0 12.85 74043 chr19 56539149 56539149 G A rs201329420 NLRP5 Nonsynonymous SNV R517Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.01 74044 chr8 98657041 98657041 C G rs188271601 MTDH Nonsynonymous SNV L103V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.424 74045 chr7 4843227 4843227 C T rs763195339 RADIL Nonsynonymous SNV G817S 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 14.76 74046 chr8 19690786 19690786 C T rs753990136 INTS10 Nonsynonymous SNV A267V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 74047 chr1 43119630 43119630 A C rs116574353 CCDC30 Synonymous SNV G761G 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 0.865 74048 chr1 43201474 43201474 G C rs199656937 CLDN19 Nonsynonymous SNV Q206E 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 1.46 74049 chr1 43212750 43212750 C T rs116577636 P3H1 Nonsynonymous SNV G750R 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign 23.9 74050 chr9 131708269 131708269 G A rs148118523 DOLK Synonymous SNV L438L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.875 74051 chr9 131804785 131804785 T C rs11544968 MIGA2 Nonsynonymous SNV V100A 0.04 0.039 0.041 10 47 15 0.026 12 0 0 1 0 13.8 74052 chr8 99234772 99234772 T A rs77774174 NIPAL2 Nonsynonymous SNV T165S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.34 74053 chr9 131823611 131823611 T C rs12685995 MIGA2 Synonymous SNV P332P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 74054 chr9 100080823 100080823 C G rs146069415 CCDC180 Nonsynonymous SNV N390K 0.02 0.01 0.014 5 23 4 0.013 4 0 0 0 0 2.273 74055 chr7 92732293 92732293 G A rs201576502 SAMD9 Nonsynonymous SNV R1040C 0.006 0.008 0 0 7 3 0 0 0 0 0 0 24.2 74056 chr8 21833926 21833926 G C rs13276598 XPO7 Synonymous SNV L197L 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 8.247 74057 chr8 10467588 10467588 T C rs78920388 RP1L1 Synonymous SNV E1340E 0.039 0.049 0.034 17 46 19 0.044 10 0 0 0 0 Benign 1.225 74058 chr8 21974426 21974426 C T rs886062805 HR Nonsynonymous SNV G1114R 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 Uncertain significance 34 74059 chr7 5385296 5385296 G A rs756306053 TNRC18 Synonymous SNV A1872A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.285 74060 chr1 44165646 44165646 C T rs145155829 KDM4A-AS1 0 0 0.031 0 0 0 0 9 0 0 0 0 0.281 74061 chr7 96650216 96650216 G T rs35273378 DLX5 Nonsynonymous SNV S234R 0.011 0.005 0.017 1 13 2 0.003 5 0 0 0 0 15.67 74062 chr9 104335619 104335619 T C rs71509734 GRIN3A Nonsynonymous SNV N1062S 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign 25.8 74063 chr1 45166717 45166717 G C rs4322271 ARMH1 Nonsynonymous SNV G189R 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 29.9 74064 chr8 22102980 22102980 C T rs188105444 POLR3D Synonymous SNV A6A 0 0.005 0 0 0 2 0 0 0 1 0 0 20.7 74065 chr1 45478585 45478585 G C rs150027651 UROD Nonsynonymous SNV Q9H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Uncertain significance 0.873 74066 chr9 133364757 133364757 T C rs1057484 ASS1 Synonymous SNV H292H 0.098 0.117 0.041 46 115 45 0.118 12 9 3 0 1 Benign 1.315 74067 chr9 133569200 133569200 C G rs148203698 EXOSC2 Nonsynonymous SNV P8A 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 Benign 15.92 74068 chr1 46073908 46073908 A G rs755047424 NASP Nonsynonymous SNV K378R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 74069 chr7 6038824 6038824 C T rs374704824 PMS2 Nonsynonymous SNV G101E 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 74070 chr8 130760952 130760952 G A rs149748731 GSDMC Nonsynonymous SNV P441L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.379 74071 chr9 107288995 107288995 A G rs41277753 OR13C4 Nonsynonymous SNV W166R 0.01 0.023 0.017 2 12 9 0.005 5 1 0 0 0 10.58 74072 chr8 130789767 130789767 G A rs10090835 GSDMC Nonsynonymous SNV P23S 0.015 0.021 0.027 9 18 8 0.023 8 0 0 0 0 23.3 74073 chr9 108483839 108483839 G A rs141978983 TMEM38B Synonymous SNV P97P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.683 74074 chr9 109692942 109692942 A G rs74505324 ZNF462 Nonsynonymous SNV N1130S 0.003 0.013 0.003 1 4 5 0.003 1 0 0 0 0 Benign 7.075 74075 chr8 113277705 113277705 T A rs61759499 CSMD3 Nonsynonymous SNV N3008I 0.009 0.003 0.014 13 10 1 0.033 4 0 0 0 0 25.3 74076 chr8 24187580 24187580 A C rs140212459 ADAM28 Nonsynonymous SNV Y352S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.633 74077 chr1 47512224 47512224 G T CYP4X1 Nonsynonymous SNV D386Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 74078 chr1 47689738 47689738 A C rs147015002 TAL1 Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 74079 chr8 24358366 24358366 T C ADAM7 Nonsynonymous SNV L689S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 74080 chr7 65419353 65419353 - TTA rs113545826 VKORC1L1 I171_H172insI 0.051 0.055 0.221 14 60 21 0.036 65 19 4 4 3 74081 chr1 48241091 48241091 G T rs146196345 TRABD2B Nonsynonymous SNV A367E 0.019 0.005 0.02 8 22 2 0.021 6 0 0 0 0 11.84 74082 chr9 112182712 112182712 C T rs116205878 PTPN3 Synonymous SNV P103P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.35 74083 chr9 110068884 110068884 G A rs146029019 RAD23B Synonymous SNV K130K 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 16.04 74084 chr9 135139826 135139826 T C rs3739927 SETX Nonsynonymous SNV S2612G 0.042 0.055 0.02 20 49 21 0.051 6 1 0 0 2 Benign 0.112 74085 chr19 58059250 58059250 G A rs767802802 ZNF550 Nonsynonymous SNV S121L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.6 74086 chr7 6662212 6662212 G A rs541456897 ZNF853 Synonymous SNV T515T 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 8.853 74087 chr7 23545399 23545399 A G rs35281714 TRA2A Synonymous SNV Y205Y 0.036 0.06 0.041 12 42 23 0.031 12 0 0 0 0 6.447 74088 chr7 70250967 70250967 A C rs372998593 AUTS2 Nonsynonymous SNV T727P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 25.3 74089 chr7 70255956 70255956 A G rs138087196 AUTS2 Nonsynonymous SNV T1228A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 13.35 74090 chr1 52854961 52854961 G A rs3087476 ORC1 Nonsynonymous SNV A372V 0.017 0.008 0.041 6 20 3 0.015 12 0 0 1 0 Benign 8.917 74091 chr7 24324879 24324879 T C rs16139 NPY Nonsynonymous SNV L7P 0.023 0.021 0.031 9 27 8 0.023 9 3 0 0 0 Benign 26 74092 chr9 113189954 113189954 T G rs41279045 SVEP1 Synonymous SNV G1964G 0.031 0.029 0.027 7 36 11 0.018 8 1 0 0 1 3.001 74093 chr9 113191533 113191533 C T rs75212846 SVEP1 Synonymous SNV V1899V 0.03 0.029 0.027 7 35 11 0.018 8 1 0 0 1 14.92 74094 chr9 113191597 113191597 G A rs76469101 SVEP1 Nonsynonymous SNV T1878I 0.021 0.021 0.017 6 25 8 0.015 5 1 0 0 1 11.92 74095 chr8 10480377 10480377 G C rs6601495 RP1L1 Nonsynonymous SNV T112S 0.009 0.013 0.02 1 11 5 0.003 6 0 0 2 0 Benign 19.72 74096 chr19 58806433 58806433 C T rs141209173 ZNF8 Nonsynonymous SNV A420V 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 22.6 74097 chr8 134488058 134488058 G A rs1036915279 ST3GAL1 Synonymous SNV L70L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.703 74098 chr8 135614015 135614015 G A rs145169577 ZFAT Synonymous SNV G587G 0.014 0.008 0.014 5 17 3 0.013 4 0 0 1 0 0.275 74099 chr1 53569073 53569073 C T rs147171722 SLC1A7 Synonymous SNV P142P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.682 74100 chr8 105503168 105503168 A T rs777901110 LRP12 Nonsynonymous SNV D752E 0.006 0.005 0 0 7 2 0 0 0 0 0 0 2.5 74101 chr8 135615139 135615139 A T ZFAT Nonsynonymous SNV Y213N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 74102 chr8 121706107 121706107 A T rs757416581 SNTB1 Nonsynonymous SNV S205T 0.007 0 0 2 8 0 0.005 0 0 0 0 0 22.1 74103 chr1 53704327 53704327 T A LOC100507564 0 0 0.003 0 0 0 0 1 0 0 0 0 6.195 74104 chr9 136217376 136217376 T A rs79897455 SNORD36A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.84 74105 chr8 27509122 27509122 C T rs774339491 SCARA3 Synonymous SNV A68A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.22 74106 chr8 27516650 27516650 C T rs147900196 SCARA3 Synonymous SNV H321H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.28 74107 chr1 54605520 54605520 T C rs648573 CDCP2 Synonymous SNV P341P 0.026 0.023 0.041 6 30 9 0.015 12 0 0 0 0 0.075 74108 chr9 114804191 114804191 C T rs146843448 SUSD1 Stop gain W720X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 14.06 74109 chr9 136535747 136535747 G A rs145913342 SARDH Synonymous SNV A818A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.32 74110 chr9 113562589 113562589 T C rs41279055 MUSK Nonsynonymous SNV V224A 0.014 0.008 0.003 10 17 3 0.026 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 74111 chr9 115652890 115652890 G A rs113536215 SLC46A2 Synonymous SNV P24P 0.018 0.021 0.01 4 21 8 0.01 3 0 0 0 0 11.98 74112 chr9 115759519 115759519 G A rs10981589 ZNF883 Stop gain R341X 0.042 0.052 0.044 18 49 20 0.046 13 0 0 0 1 7.718 74113 chr8 11058530 11058530 G A rs753072734 XKR6 Nonsynonymous SNV P107S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.274 74114 chr7 76826283 76826283 T C FGL2 Synonymous SNV K211K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.074 74115 chr9 114521086 114521086 C T rs41308926 SHOC1 Nonsynonymous SNV R59K 0.023 0.034 0.088 19 27 13 0.049 26 2 2 0 1 0.002 74116 chr9 137713948 137713948 C T rs2228559 COL5A1 Synonymous SNV I1520I 0.014 0.018 0.017 2 17 7 0.005 5 0 0 0 0 Benign/Likely benign 15.57 74117 chr7 76871141 76871141 G A rs370960860 CCDC146 Nonsynonymous SNV E125K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 74118 chr7 76889524 76889524 A G rs61746087 CCDC146 Synonymous SNV R319R 0.02 0.021 0.031 3 24 8 0.008 9 0 0 1 0 4.118 74119 chr9 115422339 115422339 G A KIAA1958 Nonsynonymous SNV C714Y 0.005 0.003 0 0 6 1 0 0 0 0 0 0 20.7 74120 chr7 2946283 2946283 C T rs147422861 CARD11 Nonsynonymous SNV D1152N 0.009 0.005 0 9 11 2 0.023 0 0 0 0 0 Likely benign 25.4 74121 chr20 644329 644338 CGGCGGGGGT - rs747898431 SCRT2 T301Afs*41 0.003 0 0 0 3 0 0 0 0 0 0 0 74122 chr9 116187645 116187645 - GCA rs527300639 C9orf43 Q304_K305insQ 0.043 0.031 0.051 20 50 12 0.051 15 1 3 2 0 74123 chr7 77326410 77326410 T C rs3750128 APTR 0.084 0.063 0.272 38 99 24 0.097 80 45 12 31 18 6.862 74124 chr7 77569868 77569868 T C rs753417861 PHTF2 Synonymous SNV F550F 0.003 0 0 0 3 0 0 0 0 0 0 0 1.665 74125 chr8 143784504 143784504 A G rs144295921 LNCOC1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.566 74126 chr8 35579843 35579843 C T rs577473098 UNC5D Synonymous SNV G406G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.29 74127 chr9 116811050 116811050 A G ZNF618 Nonsynonymous SNV K457E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.8 74128 chr9 116811268 116811268 C T rs41277731 ZNF618 Synonymous SNV S529S 0.009 0.008 0.017 3 10 3 0.008 5 1 0 0 0 9.314 74129 chr9 138714839 138714839 G A rs34237223 CAMSAP1 Synonymous SNV D556D 0.006 0.01 0 8 7 4 0.021 0 0 0 0 0 Benign 0.382 74130 chr7 30793523 30793523 G A rs745497549 INMT Nonsynonymous SNV V110M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.92 74131 chr9 116811580 116811580 C T rs201077154 ZNF618 Synonymous SNV N633N 0.009 0.008 0.007 3 10 3 0.008 2 1 0 0 0 10.96 74132 chr8 37689077 37689077 C T rs373198805 ADGRA2 Nonsynonymous SNV R357C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 74133 chr1 62120415 62120415 A C rs7532243 MGC34796 0 0 0.18 0 0 0 0 53 0 0 3 0 3.79 74134 chr8 121326201 121326201 C T rs114758925 COL14A1 Synonymous SNV L1496L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 9.873 74135 chr8 37967939 37967939 C T rs779048897 ASH2L Synonymous SNV N9N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.22 74136 chr9 117069995 117069995 C T rs1388095 COL27A1 Synonymous SNV I1718I 0.007 0.013 0.003 7 8 5 0.018 1 0 0 0 0 19.32 74137 chr8 124382186 124382188 TCA - rs539981908 ATAD2 D277del 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 74138 chr9 139328542 139328542 G A rs35498378 INPP5E Synonymous SNV A327A 0.022 0.021 0.01 18 26 8 0.046 3 0 0 0 0 Benign 12.34 74139 chr7 8790982 8790982 G A rs118084454 NXPH1 Synonymous SNV L133L 0.014 0.005 0.003 7 16 2 0.018 1 0 0 0 1 Benign 0.818 74140 chr9 139612061 139612061 C G rs376712626 DIPK1B Nonsynonymous SNV I32M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.63 74141 chr7 36657926 36657926 G A rs80187893 AOAH Nonsynonymous SNV P211L 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 31 74142 chr8 124696898 124696898 C A rs147326972 ANXA13 Synonymous SNV A261A 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 20.8 74143 chr7 36657940 36657940 T A rs3735385 AOAH Synonymous SNV P206P 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 5.818 74144 chr7 88965720 88965720 C G rs182369154 ZNF804B Nonsynonymous SNV P1142A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24.7 74145 chr1 6545390 6545390 A T rs75490131 PLEKHG5 Nonsynonymous SNV D38E 0.029 0.047 0.129 11 34 18 0.028 38 7 2 4 2 Benign 8.222 74146 chr7 91708722 91708722 G A rs61757672 AKAP9 Synonymous SNV Q2425Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 6.016 74147 chr1 6631193 6631193 C T rs141817074 TAS1R1 Nonsynonymous SNV T139M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 74148 chr8 144942265 144942265 C G rs375042978 EPPK1 Synonymous SNV A1719A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.371 74149 chr1 6639188 6639188 G - rs552097349 TAS1R1 Q436Hfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 74150 chr7 92098567 92098567 C A rs376336995 ERVW-1 Nonsynonymous SNV A377S 0.034 0.013 0.003 4 40 5 0.01 1 0 0 0 0 9.504 74151 chr7 44282880 44282880 C T rs141891199 CAMK2B Synonymous SNV A190A 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 17.55 74152 chr7 92206443 92206443 T C rs548380070 FAM133B Nonsynonymous SNV M137V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 74153 chr7 44578747 44578747 G A rs139659653 NPC1L1 Nonsynonymous SNV R417W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.1 74154 chr8 67380553 67380553 C G rs150656166 ADHFE1 Nonsynonymous SNV A457G 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 20.9 74155 chr8 67488536 67488536 T A MYBL1 Synonymous SNV P392P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.913 74156 chr20 3678675 3678675 G A rs752322631 SIGLEC1 Nonsynonymous SNV P631L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 74157 chr7 45122586 45122586 T C rs772275858 NACAD Nonsynonymous SNV K1065E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 74158 chr7 96635406 96635406 - CAGCAA rs749075748 DLX6 Q44_P45insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 74159 chr1 76257984 76257984 C T rs138598204 RABGGTB Nonsynonymous SNV P233L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 74160 chr8 144332323 144332323 C T rs148746080 ZFP41 Nonsynonymous SNV R104C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.6 74161 chr7 47342857 47342857 T C rs61731308 TNS3 Nonsynonymous SNV T1050A 0.028 0.029 0.037 16 33 11 0.041 11 0 0 0 1 0.001 74162 chr7 99690667 99690667 C T rs761764851 MCM7 Nonsynonymous SNV R507H 0.007 0.008 0 0 8 3 0 0 0 0 0 0 23.3 74163 chr9 20764972 20764972 A T FOCAD Nonsynonymous SNV K200I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.6 74164 chr8 87500783 87500783 T C rs140258784 RMDN1 Synonymous SNV E111E 0.003 0.029 0.014 3 3 11 0.008 4 0 0 0 0 9.678 74165 chr1 84647350 84647350 T G rs559690161 PRKACB Nonsynonymous SNV L3R 0 0 0.007 0 0 0 0 2 0 0 0 0 4.534 74166 chr8 17198953 17198953 T C rs4921756 MTMR7 Synonymous SNV L217L 0.056 0.055 0.065 21 66 21 0.054 19 5 2 0 0 3.755 74167 chr8 143746940 143746940 C T JRK Nonsynonymous SNV A180T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.253 74168 chr8 17541943 17541943 T G rs61748836 MTUS1 Nonsynonymous SNV K77T 0.005 0.008 0.02 1 6 3 0.003 6 0 0 0 0 26.5 74169 chr8 143784837 143784837 C G rs186867787 LNCOC1 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.728 74170 chr8 10396078 10396078 G T rs1133417 PRSS55 Nonsynonymous SNV E278D 0.005 0 0 0 6 0 0 0 0 0 0 0 16.45 74171 chr8 144804249 144804249 C G MAPK15 Nonsynonymous SNV P488R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.3 74172 chr8 18257900 18257900 C T rs144828000 NAT2 Synonymous SNV S129S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.94 74173 chr8 144589941 144589941 G A rs181766109 ZC3H3 Nonsynonymous SNV R564W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 74174 chr8 144811209 144811209 T C rs376949965 FAM83H Nonsynonymous SNV K222R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.4 74175 chr8 144874957 144874957 G A rs72693351 SCRIB Synonymous SNV R1366R 0.02 0.01 0.031 8 24 4 0.021 9 0 0 0 0 9.496 74176 chr1 879482 879482 G C rs149880798 SAMD11 Synonymous SNV G665G 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 0.258 74177 chr9 131418941 131418941 G A rs201715229 WDR34 Nonsynonymous SNV A22V 0.023 0.01 0.01 3 27 4 0.008 3 1 0 0 0 Benign 26.5 74178 chr7 51097255 51097255 G A rs61739178 COBL Nonsynonymous SNV S513F 0.014 0.008 0.007 4 16 3 0.01 2 0 0 0 0 Benign 16.47 74179 chr8 19687914 19687914 C T rs544288167 INTS10 Stop gain Q152X 0.002 0 0 0 2 0 0 0 0 0 0 0 16.45 74180 chr8 20008206 20008206 G A rs2270648 SLC18A1 Synonymous SNV L323L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 11.67 74181 chr8 144918141 144918141 G A rs138628048 NRBP2 Synonymous SNV L459L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 8.692 74182 chr8 144940331 144940331 C T rs200585601 EPPK1 Nonsynonymous SNV R2364Q 0.026 0.016 0.037 6 30 6 0.015 11 0 0 0 0 14.13 74183 chr8 144940804 144940804 - TTA rs782638518 EPPK1 T2206_T2207insK 0.002 0 0 2 2 0 0.005 0 0 0 0 0 74184 chr8 144940809 144940809 T - rs782417621 EPPK1 S2205Afs*39 0.002 0 0 1 2 0 0.003 0 0 0 0 0 74185 chr8 144940812 144940819 GTCCCGTT - rs782030171 EPPK1 T2202Efs*205 0.001 0 0 0 1 0 0 0 0 0 0 0 74186 chr8 144940820 144940820 - GGG rs782114801 EPPK1 E2201delinsAQ 0.001 0 0 0 1 0 0 0 0 0 0 0 74187 chr8 144942154 144942154 C T EPPK1 Synonymous SNV L1756L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.03 74188 chr9 131670952 131670952 C T rs3750318 LRRC8A Synonymous SNV T503T 0.013 0.008 0.017 4 15 3 0.01 5 0 0 0 0 Benign 9.481 74189 chr8 144993003 144993003 G A rs35134741 PLEC Synonymous SNV T3648T 0.007 0 0.014 4 8 0 0.01 4 0 0 0 0 Benign 4.202 74190 chr9 13224441 13224441 C A rs61753782 MPDZ Nonsynonymous SNV G109C 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 5.469 74191 chr8 10532188 10532188 T C rs61729951 C8orf74 Synonymous SNV L27L 0.016 0.003 0.01 1 19 1 0.003 3 0 0 0 0 0.04 74192 chr7 6066562 6066562 G A rs896357970 EIF2AK1 Synonymous SNV L520L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 74193 chr9 35563361 35563361 G A rs75679360 FAM166B Nonsynonymous SNV R30W 0.033 0.031 0.051 13 39 12 0.033 15 1 0 1 1 33 74194 chr7 6193909 6193909 G A rs762736924 USP42 Synonymous SNV P908P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.184 74195 chr9 35660901 35660901 C T rs2275420 CCDC107 Nonsynonymous SNV S190F 0.079 0.083 0.133 28 93 32 0.072 39 5 1 6 2 21.6 74196 chr8 110431367 110431367 C T rs199909220 PKHD1L1 Nonsynonymous SNV T801M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 74197 chr9 133759546 133759546 G A rs34717358 ABL1 Synonymous SNV E623E 0.035 0.039 0.041 12 41 15 0.031 12 1 0 1 0 6.939 74198 chr9 35665153 35665153 C A rs45567235 ARHGEF39 Nonsynonymous SNV C5F 0.051 0.057 0.068 18 60 22 0.046 20 3 0 2 1 1.267 74199 chr8 22106059 22106059 C G rs144117430 POLR3D Nonsynonymous SNV H184Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.72 74200 chr9 35674101 35674101 T C rs12553173 CA9 Synonymous SNV L49L 0.078 0.086 0.133 29 92 33 0.074 39 4 1 5 2 0.023 74201 chr1 90460035 90460035 G C rs145044163 GEMIN8P4 0 0 0.003 0 0 0 0 1 0 0 0 0 1.218 74202 chr8 22398163 22398163 A G rs148902526 PPP3CC Nonsynonymous SNV S453G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.7 74203 chr9 35906600 35906600 - A rs79156963 HRCT1 Frameshift insertion P106Hfs*102 0.032 0.036 0 16 37 14 0.041 0 5 4 0 4 74204 chr9 35906601 35906601 - CACCA HRCT1 Frameshift insertion H107Tfs*53 0.003 0.01 0 2 3 4 0.005 0 1 1 0 1 74205 chr9 133948055 133948055 G C rs146221263 LAMC3 Nonsynonymous SNV E1084Q 0.015 0.01 0 9 18 4 0.023 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.5 74206 chr9 133948184 133948184 G A rs140955110 LAMC3 Nonsynonymous SNV E1127K 0.015 0.01 0.003 9 18 4 0.023 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 74207 chr8 22885994 22885994 A - rs757683917 TNFRSF10B S200Pfs*17 0.001 0 0 1 1 0 0.003 0 0 0 0 0 74208 chr9 133960972 133960972 C T rs141724499 LAMC3 Synonymous SNV S1364S 0.012 0.01 0 8 14 4 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.58 74209 chr8 113960093 113960093 A C rs61753740 CSMD3 Synonymous SNV G348G 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.104 74210 chr9 107589246 107589246 T G rs35819696 ABCA1 Nonsynonymous SNV T774P 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.6 74211 chr7 71134983 71134983 C A rs35612272 GALNT17 Synonymous SNV V431V 0.044 0.044 0.024 15 52 17 0.038 7 0 0 0 0 13.19 74212 chr1 9324133 9324133 G A rs201056307 H6PD Synonymous SNV P538P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.886 74213 chr8 120606023 120606023 C T rs61753744 ENPP2 Synonymous SNV R350R 0.016 0.021 0.01 9 19 8 0.023 3 0 0 0 0 16.2 74214 chr8 145623295 145623295 G A rs150747740 CPSF1 Synonymous SNV C649C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.197 74215 chr20 31673888 31673888 A G rs542045948 BPIFB4 Nonsynonymous SNV M282V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 74216 chr8 24300041 24300041 T C rs35180468 ADAM7 Synonymous SNV P36P 0.026 0.016 0.014 11 30 6 0.028 4 0 1 0 0 0.006 74217 chr9 135862746 135862746 C T rs149810016 GFI1B Nonsynonymous SNV L60F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.004 74218 chr8 26509864 26509864 C T DPYSL2 Nonsynonymous SNV T563I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 74219 chr1 98511733 98511733 - CCGCTGCCGCTGCTA rs58335419 MIR137HG 0 0 0.078 0 0 0 0 23 0 0 1 0 74220 chr20 34089740 34089740 G A rs114063154 CEP250 Nonsynonymous SNV A691T 0.019 0.016 0.014 4 22 6 0.01 4 0 0 0 0 21.5 74221 chr9 136508537 136508537 C T rs35465867 DBH Synonymous SNV Y249Y 0.006 0.016 0.003 5 7 6 0.013 1 0 0 0 0 Benign/Likely benign 0.735 74222 chr7 77408045 77408045 C G rs777045355 RSBN1L Nonsynonymous SNV Q701E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.05 74223 chr8 1581034 1581034 C T rs771170255 DLGAP2 Synonymous SNV C544C 0.002 0 0 4 2 0 0.01 0 0 0 0 0 13.06 74224 chr20 36386013 36386013 C A CTNNBL1 Synonymous SNV T173T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 74225 chr8 17400888 17400888 C G SLC7A2 Nonsynonymous SNV L14V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 74226 chr20 13830939 13830939 G A rs140015347 SEL1L2 Synonymous SNV Y371Y 0.012 0.005 0.031 2 14 2 0.005 9 0 0 0 0 3.329 74227 chr9 115938951 115938951 G T rs75723379 FKBP15 Nonsynonymous SNV L697I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.5 74228 chr8 17611546 17611546 T C rs200539556 MTUS1 Nonsynonymous SNV T591A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.22 74229 chr9 115964862 115964862 G A rs62000402 FKBP15 Synonymous SNV N149N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.812 74230 chr7 8272334 8272334 T C ICA1 Synonymous SNV V23V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.14 74231 chr9 78942944 78942944 G C rs150021157 PCSK5 Nonsynonymous SNV L1426F 0.024 0.021 0.024 8 28 8 0.021 7 0 0 0 0 11.66 74232 chr9 116224452 116224452 G A rs16933949 RGS3 Nonsynonymous SNV R129K 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 1.657 74233 chr9 138662785 138662785 G A rs756996609 KCNT1 Nonsynonymous SNV A573T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.83 74234 chr9 138678103 138678153 GGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC - KCNT1 S1036_G1052del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 74235 chr9 139108556 139108556 G A rs770075933 QSOX2 Nonsynonymous SNV R367W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 74236 chr8 1873453 1873453 G A rs150986504 ARHGEF10 Synonymous SNV E793E 0.002 0 0 5 2 0 0.013 0 0 0 0 0 10.49 74237 chr8 37688391 37688391 G A rs758132243 ADGRA2 Synonymous SNV A294A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 74238 chr8 38205082 38205082 T C rs748986383 NSD3 Nonsynonymous SNV H203R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 74239 chr9 139360719 139360719 G T rs116048441 SEC16A Nonsynonymous SNV H1375Q 0.016 0.016 0.007 2 19 6 0.005 2 0 0 0 0 Benign 0.002 74240 chr8 38827080 38827080 T G rs201874190 PLEKHA2 Nonsynonymous SNV S353A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 74241 chr9 139405154 139405154 G A rs11574895 NOTCH1 Synonymous SNV A897A 0.012 0.01 0.014 4 14 4 0.01 4 0 0 0 0 Benign 8.013 74242 chr20 18505229 18505229 G A rs138314893 SEC23B Synonymous SNV V173V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.42 74243 chr9 139405181 139405181 G A rs61751548 NOTCH1 Synonymous SNV H888H 0.012 0.01 0.014 4 14 4 0.01 4 0 0 0 0 Benign 4.558 74244 chr20 18805944 18805944 C T rs146646068 C20orf78 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 74245 chr9 88648217 88648217 C T rs142242230 GOLM1 Nonsynonymous SNV G370E 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 23 74246 chr8 139164185 139164185 T C rs114885489 FAM135B Nonsynonymous SNV I845V 0.011 0.013 0.007 1 13 5 0.003 2 0 0 0 0 0.041 74247 chr8 21996952 21996952 C T rs768953844 REEP4 Nonsynonymous SNV A132T 0.005 0 0 0 6 0 0 0 0 0 0 0 33 74248 chr9 88959994 88959994 T C TUT7 Nonsynonymous SNV I299V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 74249 chr9 89561047 89561047 C A rs778703916 GAS1 Synonymous SNV A216A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 74250 chr20 47612375 47612375 G A rs61748373 ARFGEF2 Synonymous SNV S1059S 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.84 74251 chr9 91994101 91994101 G A rs62638726 SEMA4D Nonsynonymous SNV P703S 0.072 0.104 0.095 29 84 40 0.074 28 1 1 2 1 0.002 74252 chr9 91994433 91994433 C T rs45464494 SEMA4D Nonsynonymous SNV G592D 0.101 0.141 0.129 36 118 54 0.092 38 7 2 2 1 0.823 74253 chr8 21959726 21959726 G A rs113817175 FAM160B2 Nonsynonymous SNV R630Q 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 33 74254 chr9 125273573 125273573 C G OR1J2 Nonsynonymous SNV R165G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.2 74255 chr20 19941367 19941367 C T rs45481396 RIN2 Synonymous SNV T125T 0.039 0.042 0.065 21 46 16 0.054 19 1 0 0 0 Benign 10.68 74256 chr9 95610775 95610775 C T rs148641816 ZNF484 Synonymous SNV Q62Q 0.011 0.016 0.01 4 13 6 0.01 3 0 0 0 0 12.22 74257 chr9 140002018 140002018 C T rs146417316 MAN1B1 Synonymous SNV T600T 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.02 74258 chr7 98592275 98592275 G A rs200100865 TRRAP Synonymous SNV A3328A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.61 74259 chr9 140056421 140056421 C T rs139637382 GRIN1 Synonymous SNV L505L 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 Benign/Likely benign 10.62 74260 chr8 143832478 143832478 G A rs144446994 LYPD2 Nonsynonymous SNV R57W 0.006 0.008 0 0 7 3 0 0 0 0 0 0 34 74261 chr20 52198979 52198979 G A rs35267451 ZNF217 Synonymous SNV S129S 0.012 0 0.017 1 14 0 0.003 5 0 0 0 0 Benign 7.152 74262 chr9 140065535 140065535 G A rs61733477 TMEM210 Synonymous SNV D112D 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 1.262 74263 chr9 97349591 97349591 G T rs2280301 FBP2 Synonymous SNV R111R 0.062 0.065 0.082 28 73 25 0.072 24 4 1 0 1 7.002 74264 chr8 23002086 23002086 G A rs117862321 TNFRSF10D Synonymous SNV N277N 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 7.823 74265 chr20 25060143 25060143 G C rs140122268 VSX1 Nonsynonymous SNV D144E 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Benign 12.67 74266 chr9 126118600 126118600 C T rs12551047 CRB2 Synonymous SNV L21L 0.012 0.01 0.017 7 14 4 0.018 5 0 0 1 0 10.48 74267 chr8 67342186 67342186 G A rs36125898 RRS1 Nonsynonymous SNV V274I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.372 74268 chr9 15447191 15447191 T G rs41311434 SNAPC3 Nonsynonymous SNV I227M 0.013 0.008 0.017 3 15 3 0.008 5 0 0 0 0 22.4 74269 chr8 24261547 24261547 C T rs147608974 ADAMDEC1 Nonsynonymous SNV T372M 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.3 74270 chr9 140395253 140395253 G A rs144383658 PNPLA7 Synonymous SNV P524P 0.067 0.057 0.048 23 79 22 0.059 14 2 1 2 0 3.722 74271 chr8 104337099 104337099 C T rs142626394 FZD6 Synonymous SNV G255G 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 11.1 74272 chr9 14737586 14737586 G T FREM1 Nonsynonymous SNV N652K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.11 74273 chr8 73939179 73939179 C T rs748194937 TERF1 Nonsynonymous SNV A260V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 74274 chr20 30777336 30777336 G T rs3813922 TSPY26P 0 0 0.146 0 0 0 0 43 0 0 5 0 3.679 74275 chr20 30777800 30777800 T C rs11907716 TSPY26P 0 0 0.497 0 0 0 0 146 0 0 45 0 4.247 74276 chr8 25280706 25280706 C G rs35542850 GNRH1 Nonsynonymous SNV E51D 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 74277 chr20 30816124 30816124 G A rs189811657 POFUT1 Nonsynonymous SNV V201I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 74278 chr9 15459821 15459821 A C rs3087653 SNAPC3 Nonsynonymous SNV E372A 0.037 0.063 0.061 14 44 24 0.036 18 0 0 0 0 28.1 74279 chr8 28633300 28633300 G A rs78086231 INTS9 Synonymous SNV Y492Y 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 8.084 74280 chr20 31023821 31023821 G T rs139115934 ASXL1 Nonsynonymous SNV E1041D 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 not provided 23.5 74281 chr20 57568720 57568720 G A rs374913633 NELFCD Synonymous SNV L494L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.25 74282 chr9 130269527 130269527 G A rs368668074 NIBAN2 Nonsynonymous SNV S600L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23 74283 chr20 57769139 57769139 - G rs775554241 ZNF831 Frameshift insertion D1025Gfs*9 0.003 0 0 0 3 0 0 0 0 0 0 0 74284 chr8 10466937 10466937 C T rs150438402 RP1L1 Synonymous SNV A1557A 0.004 0.008 0.01 3 5 3 0.008 3 0 0 0 0 Benign/Likely benign 13.37 74285 chrX 110925461 110925461 C T rs146925326 ALG13 Nonsynonymous SNV T3I 0.003 0.005 0 2 4 2 0.005 0 1 1 0 1 Benign 4.578 74286 chr20 58348368 58348368 G A rs759190191 PHACTR3 Synonymous SNV K151K 0.003 0 0 0 3 0 0 0 0 0 0 0 3.371 74287 chr9 20414401 20414401 G C MLLT3 Nonsynonymous SNV T145S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.861 74288 chrX 114426077 114426077 G C rs782404623 RBMXL3 Synonymous SNV G691G 0 0.005 0 0 0 2 0 0 0 1 0 0 1.48 74289 chr20 31547639 31547639 C T rs373425642 EFCAB8 Synonymous SNV L1049L 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 9.352 74290 chr8 3076904 3076904 G A rs754452145 CSMD1 Synonymous SNV S1515S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.406 74291 chr8 30999110 30999110 G A rs775952540 WRN Synonymous SNV T1044T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.835 74292 chr9 21481217 21481217 G C IFNE Nonsynonymous SNV D159E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 74293 chr20 60847207 60847207 C T rs751319753 OSBPL2 Synonymous SNV I3I 0.003 0 0 0 4 0 0 0 0 0 0 0 14.44 74294 chr8 33354236 33354238 GAT - rs770037838 MAK16 D211del 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 74295 chr9 131231487 131231487 C T rs370813692 ODF2 Nonsynonymous SNV T136M 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 23.8 74296 chr9 27056376 27056376 C T rs1129458 IFT74 Synonymous SNV A514A 0.024 0.016 0.014 8 28 6 0.021 4 0 0 0 0 14.69 74297 chr20 33585199 33585199 G A rs752710199 MYH7B Nonsynonymous SNV R1210H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 74298 chr8 38369982 38369982 C G rs150721903 C8orf86 X141S 0.015 0.008 0.014 6 18 3 0.015 4 0 0 0 0 10.85 74299 chr8 3072048 3072048 G A rs73183586 CSMD1 Nonsynonymous SNV S1613F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 14.03 74300 chr8 94772165 94772165 C T rs73324992 TMEM67 Nonsynonymous SNV P36L 0.014 0.005 0.017 7 16 2 0.018 5 0 0 0 0 Benign 0.087 74301 chr8 145001885 145001885 C T rs782638887 PLEC Nonsynonymous SNV R1136Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.1 74302 chr8 33230203 33230203 A T rs2292747 FUT10 Synonymous SNV I444I 0.005 0 0 6 6 0 0.015 0 0 0 0 0 5.035 74303 chr8 41548003 41548003 T C rs10093583 ANK1 Nonsynonymous SNV M1325V 0.015 0.003 0.007 7 18 1 0.018 2 0 0 0 0 Benign 14.28 74304 chr8 41798705 41798705 T C rs16890946 KAT6A Synonymous SNV Q898Q 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 0.05 74305 chr9 32542209 32542209 G A rs371017482 TOPORS Synonymous SNV L707L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.751 74306 chr20 61436330 61436330 A G rs201442562 OGFR Nonsynonymous SNV D40G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.59 74307 chr8 37690649 37690649 G A rs144626797 ADGRA2 Nonsynonymous SNV G407S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 33 74308 chr8 99101507 99101507 G A rs118038112 ERICH5 Nonsynonymous SNV V88I 0.014 0.018 0.02 3 16 7 0.008 6 0 0 0 0 5.881 74309 chr9 35547809 35547820 CCAGGCCCTGGC - rs749692537 RUSC2 G432_P435del 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 74310 chr8 52811580 52811580 G A rs139799580 PCMTD1 Nonsynonymous SNV P31L 0.026 0.036 0.014 19 30 14 0.049 4 0 0 0 2 9.565 74311 chr9 134034832 134034832 C G NUP214 Nonsynonymous SNV D823E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.6 74312 chr8 124982294 124982294 T C rs114920664 FER1L6 Nonsynonymous SNV I135T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 5.784 74313 chrX 152482536 152482536 C G rs782650488 MAGEA1 Nonsynonymous SNV V159L 0 0.005 0 0 0 2 0 0 0 1 0 0 0.47 74314 chr20 41818289 41818289 C G rs2867655 PTPRT Nonsynonymous SNV A29P 0.01 0.021 0.071 10 12 8 0.026 21 6 4 10 5 23.1 74315 chr8 145580675 145580675 T C rs143646016 FBXL6 Nonsynonymous SNV H249R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.8 74316 chr8 127569327 127569327 G T LRATD2 Nonsynonymous SNV A103E 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.059 74317 chr20 42265869 42265869 C T rs147160105 IFT52 Nonsynonymous SNV R366W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 74318 chr20 42271177 42271177 C T rs759272876 IFT52 Synonymous SNV T393T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 74319 chr8 41552209 41552209 G A rs374320181 ANK1 Synonymous SNV I1076I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.475 74320 chr9 35910526 35910526 C G rs41312816 SPAAR Synonymous SNV V22V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 17.21 74321 chr9 35957452 35957452 A G rs61738501 OR2S2 Nonsynonymous SNV I215T 0.007 0.005 0 0 8 2 0 0 0 0 0 0 14.44 74322 chr8 59571856 59571856 A C rs59606339 NSMAF Nonsynonymous SNV I17S 0.048 0.034 0.031 10 56 13 0.026 9 0 0 1 0 0.018 74323 chr20 43129858 43129858 C T rs777470166 SERINC3 Nonsynonymous SNV S380N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 74324 chr9 101611335 101611335 G C rs2273846 GALNT12 Synonymous SNV S569S 0.037 0.042 0.058 18 44 16 0.046 17 0 0 1 1 Benign 7.947 74325 chr8 12958145 12958145 T G rs61757612 DLC1 Synonymous SNV P56P 0.071 0.073 0.037 32 83 28 0.082 11 4 1 0 0 0.018 74326 chrX 153695592 153695592 C T rs56277624 PLXNA3 Synonymous SNV N1073N 0.032 0.031 0.014 4 37 12 0.01 4 8 3 0 0 Benign 9.417 74327 chrX 154005088 154005088 - AAG rs797045523 DKC1 K500_A501insK 0.029 0.018 0.014 4 34 7 0.01 4 6 1 0 0 74328 chr9 103261150 103261150 A G rs150250818 MSANTD3-TMEFF1, TMEFF1 Synonymous SNV Q174Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.801 74329 chrX 15582298 15582298 T C rs41303171 ACE2 Nonsynonymous SNV N720D 0 0.013 0.007 1 0 5 0.003 2 0 2 0 0 7.867 74330 chr8 145742799 145742799 T C rs34642881 RECQL4 Nonsynonymous SNV E71G 0.013 0.016 0.02 10 15 6 0.026 6 1 0 0 0 Benign 21.6 74331 chr20 44187615 44187615 A G rs764170643 WFDC8 Synonymous SNV C51C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 74332 chr20 62309679 62309679 C T rs35877957 RTEL1 Synonymous SNV S116S 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign 11.86 74333 chr20 62321128 62321128 G A rs35640778 RTEL1 Nonsynonymous SNV R461Q 0.019 0.016 0.014 5 22 6 0.013 4 0 0 0 0 Benign 22.7 74334 chr8 13424565 13424565 C T rs201250059 C8orf48 Nonsynonymous SNV T22I 0.006 0.003 0.003 3 7 1 0.008 1 1 0 0 0 1.072 74335 chr8 13424600 13424600 A T rs188494481 C8orf48 Nonsynonymous SNV T34S 0.006 0.003 0.003 3 7 1 0.008 1 1 0 0 0 0.002 74336 chr20 62339942 62339942 G A rs145783963 ZGPAT Nonsynonymous SNV E4K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.42 74337 chr9 6477791 6477791 C T rs73399085 UHRF2 Synonymous SNV V381V 0.023 0.039 0.024 14 27 15 0.036 7 0 0 0 0 15.45 74338 chr8 66692011 66692011 C T rs11557049 PDE7A Nonsynonymous SNV G76E 0.047 0.055 0.027 15 55 21 0.038 8 0 1 1 0 23.2 74339 chr20 4680026 4680049 GGTGGTGGCTGGGGGCAGCCTCAT - rs587778768 PRNP P84_Q91del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 74340 chr8 141461044 141461044 C T rs369511113 TRAPPC9 Synonymous SNV T143T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.742 74341 chr21 15599586 15599586 G A rs192706210 RBM11 Nonsynonymous SNV R280Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.09 74342 chr8 73480140 73480140 C G rs41272419 KCNB2 Synonymous SNV P57P 0.037 0.052 0.027 6 44 20 0.015 8 4 1 0 0 7.981 74343 chr9 138669210 138669210 C T rs149028586 KCNT1 Synonymous SNV D747D 0.029 0.016 0.003 4 34 6 0.01 1 1 0 0 0 Benign/Likely benign 12.66 74344 chr9 110250334 110250334 G T rs150375845 KLF4 Nonsynonymous SNV T114N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.979 74345 chr8 18080115 18080115 C T rs5030839 NAT1 Stop gain R187X 0.013 0.008 0 1 15 3 0.003 0 0 0 0 0 35 74346 chr9 138852904 138852904 C G rs74667710 UBAC1 Synonymous SNV S35S 0.026 0.013 0.02 4 30 5 0.01 6 1 0 1 0 17.52 74347 chr8 74209461 74209461 T G rs145171413 RDH10 Nonsynonymous SNV C108G 0.009 0 0.007 0 10 0 0 2 0 0 0 0 12.16 74348 chr20 47866063 47866063 G A rs34059789 ZNFX1 Synonymous SNV C1166C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.693 74349 chr21 22656629 22656629 T C rs182642680 NCAM2 Synonymous SNV N82N 0.008 0.01 0 0 9 4 0 0 0 0 0 0 1.215 74350 chr9 78965789 78965789 T C rs375939325 PCSK5 Nonsynonymous SNV L1644P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 74351 chr9 139256541 139256541 C T rs3812554 DNLZ Nonsynonymous SNV A154T 0.041 0.039 0.058 25 48 15 0.064 17 0 1 1 0 0.013 74352 chr9 112899727 112899727 G A rs750878916 PALM2AKAP2 Nonsynonymous SNV G493R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 74353 chr9 77683986 77683986 C T rs138360599 NMRK1 Nonsynonymous SNV G117E 0.008 0.016 0.02 2 9 6 0.005 6 0 0 0 0 31 74354 chr9 139272167 139272167 G A rs144593632 SNAPC4 Nonsynonymous SNV A1371V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.53 74355 chrX 36177578 36177578 G A rs5973603 CFAP47 Nonsynonymous SNV R1941H 0.049 0.049 0 16 57 19 0.041 0 13 7 0 3 12.82 74356 chrX 36177606 36177606 A G rs5973604 CFAP47 Synonymous SNV L1950L 0.049 0.049 0 16 57 19 0.041 0 13 7 0 3 15.34 74357 chr8 94747468 94747468 A G rs769573148 RBM12B Nonsynonymous SNV S391P 0.011 0.008 0 0 13 3 0 0 0 0 0 0 1.378 74358 chr8 2024274 2024274 C T MYOM2 Nonsynonymous SNV H392Y 0.003 0 0 0 3 0 0 0 0 0 0 0 8.886 74359 chr8 94828615 94828615 C T rs375719305 TMEM67 Nonsynonymous SNV R975C 0.01 0.008 0 0 12 3 0 0 0 0 0 0 26.4 74360 chr8 95186331 95186331 C G rs781239281 CDH17 Nonsynonymous SNV E194D 0.011 0.005 0 0 13 2 0 0 0 0 0 0 2.688 74361 chr9 139299637 139299637 C T rs3812577 ENTR1 Nonsynonymous SNV R231Q 0.068 0.065 0.109 28 80 25 0.072 32 2 1 1 0 23.3 74362 chr20 52492228 52492228 G T rs6126997 SUMO1P1 0 0 0.207 0 0 0 0 61 0 0 8 0 0.22 74363 chr20 52492229 52492229 C T rs6126998 SUMO1P1 0 0 0.201 0 0 0 0 59 0 0 8 0 4.689 74364 chr9 79324350 79324350 G C rs369610989 PRUNE2 Nonsynonymous SNV S947C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 74365 chr8 8999039 8999039 G T rs61756425 PPP1R3B Nonsynonymous SNV S41R 0.011 0.01 0.01 3 13 4 0.008 3 0 0 0 0 13.31 74366 chr9 139369066 139369066 G A rs148167113 SEC16A Nonsynonymous SNV T1001I 0.014 0.018 0.02 4 16 7 0.01 6 0 0 0 0 10.11 74367 chr8 22054779 22054779 G C BMP1 Synonymous SNV V651V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.203 74368 chr9 139401233 139401233 C T rs61751543 NOTCH1 Nonsynonymous SNV R1279H 0.009 0.013 0.024 0 10 5 0 7 0 0 0 0 Benign 23.5 74369 chr21 32567583 32567583 C G rs16987932 TIAM1 Nonsynonymous SNV Q819H 0.021 0.018 0.02 9 25 7 0.023 6 1 0 1 0 19.84 74370 chr20 56227121 56227121 T C rs61744856 PMEPA1 Synonymous SNV G256G 0.023 0.026 0.017 12 27 10 0.031 5 0 0 0 0 0.002 74371 chr20 56227589 56227589 C G rs41314918 PMEPA1 Nonsynonymous SNV E100D 0.03 0.029 0.024 16 35 11 0.041 7 0 0 0 0 2.9 74372 chr21 32931691 32931691 G A rs117577519 LOC150051 Nonsynonymous SNV E40K 0.021 0.039 0.048 14 25 15 0.036 14 0 0 0 0 6.123 74373 chr9 139750072 139750072 G A rs201767253 MAMDC4 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 23.5 74374 chr9 139802567 139802567 G A rs138185376 TRAF2 Nonsynonymous SNV A138T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 14.81 74375 chr21 33734227 33734227 G A rs769654409 URB1 Nonsynonymous SNV P538L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.615 74376 chr20 56861443 56861443 T C rs41303905 PPP4R1L 0 0 0.02 0 0 0 0 6 0 0 1 0 11.49 74377 chr8 96264436 96264436 C T rs35141355 C8orf37 Synonymous SNV S150S 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 19.91 74378 chr8 144940556 144940556 G A rs374977437 EPPK1 Nonsynonymous SNV A2289V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 74379 chr8 96281363 96281363 G C rs36096184 C8orf37 Nonsynonymous SNV P19A 0.004 0.008 0.014 0 5 3 0 4 0 0 0 0 Likely benign 6.541 74380 chr8 144944265 144944265 T C rs782237315 EPPK1 Nonsynonymous SNV T1053A 0.001 0 0 6 1 0 0.015 0 0 0 0 0 0.003 74381 chr9 90497955 90497955 A G rs562954822 SPATA31E1 Nonsynonymous SNV K50R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.837 74382 chr20 57290705 57290705 T C rs12220 STX16-NPEPL1 0 0 0.197 0 0 0 0 58 0 0 27 0 0.912 74383 chr20 57572709 57572709 A G rs199825459 CTSZ Nonsynonymous SNV L196P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 25.6 74384 chr9 139973737 139973737 C T rs755866145 UAP1L1 Synonymous SNV P291P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.33 74385 chr20 58883605 58883605 T G rs6513497 MIR646 0 0 0.085 0 0 0 0 25 0 0 1 0 5.037 74386 chr9 140005177 140005179 TGG - rs771813924 DPP7 T467del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 74387 chr9 95869981 95869981 G A rs74414352 CARD19 Synonymous SNV V11V 0.005 0 0.02 0 6 0 0 6 0 0 0 0 12.65 74388 chr9 101552584 101552584 G A rs41283630 ANKS6 Nonsynonymous SNV R222W 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 Benign 23 74389 chr9 101747905 101747905 G A rs137919829 COL15A1 Synonymous SNV S53S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.352 74390 chr9 95094587 95094587 C T rs138231237 CENPP Synonymous SNV H81H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.096 74391 chr8 24811733 24811733 G A rs754118787 NEFL Synonymous SNV N377N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 14.47 74392 chr9 117044776 117044776 G A rs558210767 COL27A1 Nonsynonymous SNV V1271I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.7 74393 chr9 140128644 140128644 G A rs35699762 SLC34A3 Nonsynonymous SNV G337S 0.013 0.026 0.017 10 15 10 0.026 5 0 0 1 0 Benign 0.512 74394 chr9 96079900 96079900 C T rs147951991 WNK2 Synonymous SNV S2205S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 13.45 74395 chr9 140166645 140166645 C T rs61750948 NELFB Synonymous SNV F534F 0.009 0.021 0.007 8 10 8 0.021 2 0 0 0 0 14.25 74396 chr9 140201604 140201604 C T rs28685844 EXD3 Nonsynonymous SNV R810Q 0.01 0.026 0.017 9 12 10 0.023 5 0 0 0 0 9.337 74397 chr9 104499617 104499617 G A rs41273935 GRIN3A Synonymous SNV V215V 0.018 0.016 0.014 12 21 6 0.031 4 0 0 0 0 7.931 74398 chr20 60884427 60884427 C T rs138468519 LAMA5 Nonsynonymous SNV G3685R 0.009 0.016 0.01 3 11 6 0.008 3 0 0 0 0 Likely benign 24.4 74399 chr9 98209214 98209214 G A rs143464326 PTCH1 Nonsynonymous SNV R1390W 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Benign/Likely benign 25.5 74400 chr20 60884852 60884852 G A rs140197067 LAMA5 Nonsynonymous SNV A3623V 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Benign 11.17 74401 chrY 15017713 15017713 A G DDX3Y Nonsynonymous SNV K8R 0.002 0.01 0 0 2 4 0 0 1 2 0 0 9.328 74402 chrY 22942897 22942897 T C rs34459399 RPS4Y2 Synonymous SNV A257A 0.077 0.115 0.122 28 90 44 0.072 36 45 22 18 13 5.836 74403 chr9 101804366 101804366 T C rs35901514 COL15A1 Nonsynonymous SNV F851L 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 24.7 74404 chr8 27457477 27457477 G A rs9331939 CLU Synonymous SNV D328D 0.012 0.021 0.014 13 14 8 0.033 4 0 0 0 1 Benign 3.929 74405 chr8 145086882 145086882 C T SPATC1 Nonsynonymous SNV R67C 0.001 0 0 6 1 0 0.015 0 0 0 0 0 17.44 74406 chr9 119461708 119461708 C T TRIM32 Nonsynonymous SNV R563C 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 74407 chr10 100374776 100374776 C A HPSE2 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 74408 chr9 108287413 108287413 C T rs1012666578 RALGAPA1P1 0.002 0 0 4 2 0 0.01 0 0 0 0 0 4.928 74409 chr9 109701313 109701313 G A rs753969030 ZNF462 Nonsynonymous SNV V1253I 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 74410 chrX 100749038 100749038 C T rs34379067 ARMCX4 Nonsynonymous SNV A1821V 0.065 0.057 0.041 23 76 22 0.059 12 0 0 0 0 22.7 74411 chrX 101139758 101139758 C T rs17282855 ZMAT1 Nonsynonymous SNV R214K 0.066 0.052 0.071 28 77 20 0.072 21 18 3 8 9 0.029 74412 chr8 30550502 30550502 A G rs151187899 GSR Nonsynonymous SNV V289A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 31 74413 chr10 101689781 101689781 A G DNMBP Nonsynonymous SNV M247T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.884 74414 chr8 145579988 145579988 C T rs147089394 FBXL6 Synonymous SNV P399P 0.001 0 0 6 1 0 0.015 0 0 0 0 0 10.5 74415 chr9 107558340 107558340 G A rs13306077 ABCA1 Synonymous SNV T1792T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.188 74416 chr20 61711430 61711430 T C rs112147947 LINC01749 0 0 0.112 0 0 0 0 33 0 0 2 0 0.078 74417 chr20 61711484 61711484 T C rs62206577 LINC01749 0 0 0.112 0 0 0 0 33 0 0 2 0 0.151 74418 chrX 106796084 106796084 T C rs12011630 FRMPD3 Synonymous SNV L223L 0.009 0.008 0.014 3 10 3 0.008 4 1 1 2 1 3.418 74419 chr20 61711616 61711616 A C rs62206578 LINC01749 0 0 0.109 0 0 0 0 32 0 0 2 0 1.535 74420 chr20 61711643 61711643 T - rs112169283 LINC01749 0 0 0.102 0 0 0 0 30 0 0 2 0 74421 chr20 61711648 61711648 C T rs76011895 LINC01749 0 0 0.102 0 0 0 0 30 0 0 2 0 2.328 74422 chr20 61869956 61869956 G A rs79055277 BIRC7 Synonymous SNV V189V 0.01 0.016 0.024 10 12 6 0.026 7 0 0 1 0 0.185 74423 chr20 61885452 61885452 G T rs34203226 FLJ16779 0 0 0.415 0 0 0 0 122 0 0 37 0 10.5 74424 chr20 61918164 61918164 C G rs6062431 MIR4326 0 0 0.337 0 0 0 0 99 0 0 33 0 2.85 74425 chr8 145738994 145738994 G A rs746691436 RECQL4 Stop gain R721X 0.001 0 0 6 1 0 0.015 0 0 0 0 0 Pathogenic 36 74426 chr8 37692704 37692704 G A rs113270504 ADGRA2 Nonsynonymous SNV V541M 0.019 0.029 0 11 22 11 0.028 0 0 0 0 0 24.7 74427 chrX 114424906 114424906 G A rs782148400 RBMXL3 Nonsynonymous SNV R301Q 0.01 0.008 0 1 12 3 0.003 0 4 0 0 0 23.5 74428 chr20 62165034 62165034 A G rs56338872 PTK6 Synonymous SNV H180H 0.007 0.008 0.014 0 8 3 0 4 1 0 0 0 0.016 74429 chr8 146278169 146278169 - A rs779592565 C8orf33 Frameshift insertion Q71Tfs*4 0.001 0 0 6 1 0 0.015 0 0 0 0 0 74430 chr20 62172283 62172283 G A rs8120713 SRMS Nonsynonymous SNV P452L 0.007 0.008 0.017 0 8 3 0 5 1 0 0 0 28.3 74431 chr8 37963081 37963081 G C rs193080501 ASH2L Nonsynonymous SNV G5R 0.019 0.036 0.007 5 22 14 0.013 2 0 0 0 0 23.4 74432 chr9 26998090 26998090 C T rs35776880 LRRC19 Synonymous SNV E77E 0.025 0.029 0.041 11 29 11 0.028 12 0 0 0 0 9.907 74433 chr9 113192279 113192279 A T rs142508835 SVEP1 Nonsynonymous SNV S1846T 0.014 0.016 0.02 4 17 6 0.01 6 0 0 0 0 22.6 74434 chr8 41507859 41507859 G A rs529890740 NKX6-3 Synonymous SNV T51T 0.003 0 0 0 3 0 0 0 0 0 0 0 19.85 74435 chr8 41548044 41548044 C T rs182408750 ANK1 Nonsynonymous SNV R1311Q 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 74436 chr9 32552462 32552462 C G rs15014 SMIM27 Nonsynonymous SNV D10E 0.032 0.036 0.037 5 38 14 0.013 11 3 0 0 1 Likely benign 19.78 74437 chrX 119513337 119513337 A T rs138577504 ATP1B4 Nonsynonymous SNV T308S 0.014 0.016 0.02 2 16 6 0.005 6 4 1 2 0 20.1 74438 chrX 120181641 120181641 G A rs191769566 GLUD2 Nonsynonymous SNV G35R 0.147 0.148 0.116 39 172 57 0.1 34 49 17 11 9 4.969 74439 chr8 52811542 52811542 G T rs116665430 PCMTD1 Synonymous SNV R44R 0.029 0.013 0.01 6 34 5 0.015 3 0 0 0 0 11.36 74440 chr9 34310852 34310852 T C KIF24 Nonsynonymous SNV T165A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.1 74441 chr21 45670790 45670790 C T rs113593938 DNMT3L Nonsynonymous SNV R271Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 16.11 74442 chr8 59345764 59345764 C T rs765005760 UBXN2B Nonsynonymous SNV R129W 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 29.6 74443 chr8 59410986 59410986 G A rs150351766 CYP7A1 Synonymous SNV Y41Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 8.328 74444 chr9 116811347 116811347 C T rs747248006 ZNF618 Nonsynonymous SNV R556C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 74445 chr20 9520140 9520140 A G rs766724193 PAK5 Nonsynonymous SNV V710A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 74446 chr8 62626913 62626913 A T ASPH Nonsynonymous SNV N6K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 74447 chr9 127662748 127662748 T C rs150137668 GOLGA1 Nonsynonymous SNV T382A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 74448 chr21 15561569 15561569 T C rs761238102 LIPI Nonsynonymous SNV Q73R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.96 74449 chr21 15593485 15593485 C A rs141953885 RBM11 Nonsynonymous SNV N109K 0.021 0.023 0.017 19 25 9 0.049 5 1 2 0 2 13.88 74450 chr21 15646397 15646397 A G rs8129984 ABCC13 0 0 0.51 0 0 0 0 150 0 0 65 0 2.643 74451 chr21 15664040 15664040 C T rs17274058 ABCC13 0 0 0.024 0 0 0 0 7 0 0 0 0 17.37 74452 chr10 114059303 114059303 C T rs41310278 TECTB Synonymous SNV V296V 0.014 0.021 0.024 5 17 8 0.013 7 0 0 0 0 16.99 74453 chr8 6566287 6566287 G C rs138886879 AGPAT5 Nonsynonymous SNV G33A 0.04 0.036 0.051 11 47 14 0.028 15 1 0 0 0 0.319 74454 chr9 35676350 35676350 C A rs755541700 CA9 Synonymous SNV R268R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 74455 chr9 35752048 35752048 C A rs62620193 RGP1 Nonsynonymous SNV H286Q 0.012 0.018 0.01 4 14 7 0.01 3 0 0 0 0 24.5 74456 chr9 35906601 35906601 C A rs112212538 HRCT1 Nonsynonymous SNV P106H 0.014 0.023 0 1 17 9 0.003 0 1 1 0 0 3.28 74457 chr21 46910215 46910215 C T rs754862849 COL18A1 Synonymous SNV P842P 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 7.639 74458 chr21 46924417 46924434 GGCCCCCCCGGCCCCCCA - rs201180574 COL18A1 G1119Afs*86 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 74459 chrX 141290903 141290903 G A MAGEC2 Nonsynonymous SNV H291Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.51 74460 chr9 130488607 130488607 G A rs142193455 TTC16 Nonsynonymous SNV R437Q 0.019 0.008 0.007 3 22 3 0.008 2 1 0 0 0 26.5 74461 chrX 149898676 149898676 C T rs371235320 MTMR1 Synonymous SNV N209N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 74462 chr9 120476816 120476816 C T rs55786277 TLR4 Nonsynonymous SNV R604W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 74463 chr8 71646201 71646201 C T rs61734026 XKR9 Nonsynonymous SNV L222F 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 22.5 74464 chr21 30313683 30313683 G A rs761919956 LTN1 Synonymous SNV D1433D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.257 74465 chr9 130868670 130868670 G C rs140777921 SLC25A25 Nonsynonymous SNV Q349H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.3 74466 chr9 38413274 38413274 C T rs149499241 IGFBPL1 Nonsynonymous SNV R216Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 74467 chr10 116085657 116085657 T G rs66796658 AFAP1L2 Nonsynonymous SNV D153A 0.022 0.018 0.017 9 26 7 0.023 5 1 0 0 0 5.969 74468 chrX 152584959 152584959 G A rs188949216 PNMA6F Nonsynonymous SNV R392C 0.017 0.023 0 6 20 9 0.015 0 8 2 0 2 3.642 74469 chr9 124522313 124522313 C T rs34727342 DAB2IP Synonymous SNV F131F 0.01 0.008 0.017 5 12 3 0.013 5 0 0 0 0 13.51 74470 chr9 125273991 125273991 T C rs749616626 OR1J2 Nonsynonymous SNV L304P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 74471 chr8 24250832 24250832 C G rs61752046 ADAMDEC1 Nonsynonymous SNV L10V 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 23.1 74472 chr8 25154055 25154055 G A rs369984539 DOCK5 Nonsynonymous SNV R166Q 0 0 0 2 0 0 0.005 0 0 0 0 0 33 74473 chr9 131939405 131939405 C T rs141691078 IER5L Synonymous SNV E309E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 74474 chr21 47931424 47931424 G A rs201152472 DIP2A Synonymous SNV P290P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 6.287 74475 chr9 131940019 131940019 G A rs184457 IER5L Nonsynonymous SNV P105S 0.076 0.039 0.027 44 89 15 0.113 8 28 4 3 11 25 74476 chr9 126146147 126146147 G A rs117892492 DENND1A Synonymous SNV G552G 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 13.1 74477 chr21 48071849 48071849 C A rs369966297 PRMT2 Stop gain C262X 0.003 0 0 0 3 0 0 0 0 0 0 0 15.5 74478 chrX 150839639 150839639 G T rs769677472 PASD1 Nonsynonymous SNV A401S 0.002 0.005 0 0 2 2 0 0 0 1 0 0 10.56 74479 chr21 48071850 48071850 T A rs373818547 PRMT2 Nonsynonymous SNV C263S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.51 74480 chr21 33765457 33765472 GGGATCCAGAGTCTTG - rs150903996 URB1-AS1 0 0 0.088 0 0 0 0 26 0 0 2 0 74481 chr21 33765496 33765496 A C rs112644530 URB1-AS1 0 0 0.099 0 0 0 0 29 0 0 2 0 0.447 74482 chr9 127566544 127566544 C T rs776259571 OLFML2A Nonsynonymous SNV T150I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 7.258 74483 chr8 8234905 8234905 G A rs373334132 PRAG1 Synonymous SNV S338S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.789 74484 chrX 152027402 152027402 G A rs200930841 NSDHL Nonsynonymous SNV R119K 0.009 0.016 0.024 2 10 6 0.005 7 2 2 3 1 Benign/Likely benign 13.09 74485 chr8 86240861 86240861 G A rs146043953 CA1 Synonymous SNV N125N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.627 74486 chrX 154020084 154020084 C T rs148895563 MPP1 Synonymous SNV T78T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.82 74487 chr9 130116658 130116658 C G rs75324173 GARNL3 Nonsynonymous SNV D576E 0.023 0.021 0.014 10 27 8 0.026 4 0 0 0 0 19.62 74488 chr22 19196615 19196615 C T rs34486244 CLTCL1 Nonsynonymous SNV E1087K 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 23.6 74489 chr9 73240431 73240431 T G rs73451725 TRPM3 Synonymous SNV R547R 0.097 0.112 0.082 39 114 43 0.1 24 7 1 2 3 17.67 74490 chr9 134021543 134021543 T C NUP214 Synonymous SNV P599P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.651 74491 chr8 28385321 28385321 G A rs148953574 FZD3 Synonymous SNV A348A 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 Benign 10.76 74492 chrX 153047237 153047237 G A rs782641314 SRPK3 Synonymous SNV A113A 0.002 0.005 0 0 2 2 0 0 0 1 0 0 11.28 74493 chr21 36411119 36411119 G T rs3746865 RUNX1-IT1 0 0 0.248 0 0 0 0 73 0 0 11 0 1.047 74494 chr8 92213022 92213022 T A rs72666050 LRRC69 0.02 0.013 0.034 16 23 5 0.041 10 0 0 0 0 23.2 74495 chr8 94746311 94746311 C T rs200821074 RBM12B Synonymous SNV P776P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.86 74496 chr9 130533494 130533494 G A rs34219208 SH2D3C Synonymous SNV G5G 0.019 0.013 0.003 5 22 5 0.013 1 0 0 0 0 9.63 74497 chr22 21192935 21192935 A G PI4KA Synonymous SNV L81L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.121 74498 chr9 130269576 130269576 C T rs201626107 NIBAN2 Nonsynonymous SNV G584S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 6.97 74499 chr9 135201714 135201714 T C rs200499115 SETX Synonymous SNV E1757E 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.683 74500 chr9 130488623 130488623 C T rs138362819 TTC16 Synonymous SNV N442N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 11.31 74501 chr9 131023505 131023505 T C rs16912752 GOLGA2 Nonsynonymous SNV M417V 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 0.001 74502 chr9 130493488 130493488 A G rs4837178 TTC16 Nonsynonymous SNV Y796C 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 0.054 74503 chr8 3265509 3265509 G C rs372686253 CSMD1 Synonymous SNV S661S 0 0 0 3 0 0 0.008 0 0 0 0 0 8.892 74504 chrX 18944659 18944659 T C PHKA2 Synonymous SNV K457K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 74505 chr9 131193481 131193481 G A rs143305223 CERCAM Nonsynonymous SNV G290S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 74506 chr8 98289264 98289264 T C TSPYL5 Nonsynonymous SNV E270G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 74507 chr21 40619670 40619670 C T BRWD1 Nonsynonymous SNV R813H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.494 74508 chr9 131198119 131198119 C A rs1046307 CERCAM Nonsynonymous SNV P497T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.671 74509 chr9 130513469 130513469 A G rs2233499 SH2D3C Synonymous SNV H64H 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 2.362 74510 chr9 130523904 130523904 T C rs35019975 SH2D3C Nonsynonymous SNV S24G 0.013 0.013 0.007 5 15 5 0.013 2 0 0 0 0 1.978 74511 chr9 130550917 130550917 G A rs143718708 CDK9 Synonymous SNV T233T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 14.71 74512 chr10 126714653 126714653 G A CTBP2 Nonsynonymous SNV P559L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 74513 chr21 40978013 40978013 G A rs2837096 B3GALT5-AS1 0 0 0.078 0 0 0 0 23 0 0 2 0 0.955 74514 chr9 130566668 130566668 G A rs34330923 FPGS Synonymous SNV L31L 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 10.56 74515 chr9 130572046 130572046 G A rs200893897 FPGS Nonsynonymous SNV A356T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.819 74516 chr9 135983453 135983453 G A rs34054856 RALGDS Synonymous SNV N318N 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 Benign 12.63 74517 chr21 42064785 42064785 C T rs79669041 DSCAM Synonymous SNV A153A 0.006 0.008 0.027 5 7 3 0.013 8 0 0 0 0 Benign 17.88 74518 chr8 38245510 38245510 C A rs373615661 LETM2 Nonsynonymous SNV F3L 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 22 74519 chr9 79322710 79322710 C T rs11145016 PRUNE2 Nonsynonymous SNV V1494I 0.044 0.029 0.044 9 52 11 0.023 13 0 0 0 0 12.09 74520 chr10 127967533 127967533 G T rs117627830 ADAM12 Synonymous SNV R71R 0.012 0.013 0.017 4 14 5 0.01 5 0 0 0 0 10.1 74521 chr9 131799261 131799261 C T rs11564101 MIGA2 Synonymous SNV G5G 0.026 0.023 0.02 10 30 9 0.026 6 0 0 2 0 10.16 74522 chr9 79933440 79933440 C T rs781398633 VPS13A Nonsynonymous SNV S1710L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.8 74523 chr9 132400164 132400164 G T ASB6 Nonsynonymous SNV P362T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.5 74524 chr9 132401753 132401753 G A rs144137235 ASB6 Synonymous SNV A110A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.56 74525 chr9 80869797 80869797 T G rs754553810 CEP78 Nonsynonymous SNV S434A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 74526 chr9 8341975 8341975 C G rs779308124 PTPRD Synonymous SNV A1148A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.104 74527 chr9 103002466 103002466 A G rs41312220 INVS Nonsynonymous SNV N247S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign/Likely benign 19.45 74528 chr9 103947810 103947810 T G rs41296085 PLPPR1 Nonsynonymous SNV S12A 0.024 0.018 0.014 9 28 7 0.023 4 0 0 0 0 18.2 74529 chr9 133768987 133768987 T C rs111763002 QRFP Nonsynonymous SNV E80G 0.021 0.018 0.027 12 25 7 0.031 8 0 0 0 0 Benign 5.056 74530 chr21 43708018 43708018 C T rs56140811 ABCG1 Synonymous SNV G331G 0.011 0.003 0.017 2 13 1 0.005 5 0 0 1 0 11.45 74531 chr9 91063860 91063860 T C rs34327412 SPIN1 Synonymous SNV H19H 0.003 0.013 0.003 4 3 5 0.01 1 0 0 0 0 1.773 74532 chr9 91954848 91954848 C G rs45452691 SECISBP2 Nonsynonymous SNV Q427E 0.026 0.031 0.034 19 31 12 0.049 10 0 0 0 2 15.4 74533 chr21 43905830 43905830 G A rs117797631 RSPH1 Synonymous SNV A112A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 13.26 74534 chr8 59727976 59727976 G A rs146676487 TOX Nonsynonymous SNV P438L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.3 74535 chr9 138669288 138669288 C T rs149452823 KCNT1 Synonymous SNV I773I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.41 74536 chrX 56758632 56758633 GG - NBDY 0 0.003 0 0 0 1 0 0 0 0 0 0 74537 chrX 63488524 63488524 A T rs73227152 MTMR8 Nonsynonymous SNV L670M 0.009 0.008 0.007 0 10 3 0 2 3 1 0 0 0.001 74538 chr22 28193448 28193448 C T rs200003316 MN1 Synonymous SNV L1028L 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 0.797 74539 chr9 107556793 107556793 - AA rs377469216 ABCA1 0.096 0.065 0.034 29 113 25 0.074 10 34 6 3 6 74540 chr21 44474004 44474004 G A rs766444814 CBS, CBSL Nonsynonymous SNV R443W 0 0 0.007 0 0 0 0 2 0 0 0 0 23 74541 chrX 63488525 63488525 G T rs73227155 MTMR8 Nonsynonymous SNV N669K 0.009 0.008 0.007 0 10 3 0 2 3 1 0 0 12.09 74542 chr9 95012538 95012538 T C rs561762335 IARS1 Synonymous SNV A793A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 3.739 74543 chr22 28501580 28501580 G A rs189318371 TTC28 Synonymous SNV D998D 0.018 0.013 0.014 6 21 5 0.015 4 0 0 0 0 4.148 74544 chr22 29706913 29706913 A T rs746842839 GAS2L1 Nonsynonymous SNV E312V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 74545 chrX 66765159 66765167 GCAGCAGCA - rs797045254 AR Q78_Q80del 0.019 0.034 0.024 2 22 13 0.005 7 8 6 3 0 74546 chr21 45107766 45107766 G A rs61737067 RRP1B Nonsynonymous SNV G504D 0.005 0 0.014 2 6 0 0.005 4 0 0 1 0 5.834 74547 chrX 54566663 54566665 AAA - rs748797074 GNL3L K62del 0.006 0.01 0 2 7 4 0.005 0 1 0 0 0 74548 chr9 96439217 96439217 G A rs368389876 PHF2 Synonymous SNV S1058S 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 3.065 74549 chrX 65819930 65819930 C T rs190538880 EDA2R Synonymous SNV L175L 0.02 0.023 0 3 24 9 0.008 0 4 2 0 1 0.752 74550 chr9 134473655 134473655 C T rs11243446 RAPGEF1 Synonymous SNV E679E 0.032 0.029 0.071 17 38 11 0.044 21 1 2 0 0 15.37 74551 chr9 98270531 98270531 C T rs143494325 PTCH1 Nonsynonymous SNV G38E 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 Benign/Likely benign 14.95 74552 chr21 45725746 45725746 C T rs118169148 PFKL Stop gain R55X 0.066 0.063 0.075 29 77 24 0.074 22 0 1 1 0 6.1 74553 chr9 134353141 134353141 G A rs192404714 PRRC2B Nonsynonymous SNV E1473K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.6 74554 chr10 134942319 134942319 C T rs2806453 ADGRA1 Synonymous SNV P232P 0.029 0.036 0.014 8 34 14 0.021 4 0 1 0 2 6.686 74555 chr9 135277297 135277297 C T rs140776005 TTF1 Synonymous SNV G304G 0.015 0.01 0.027 7 18 4 0.018 8 1 0 0 0 10.53 74556 chr9 135413000 135413002 CTT - rs542793318 CFAP77 F181del 0.007 0.005 0.014 6 8 2 0.015 4 0 0 0 0 74557 chr8 70744710 70744710 A G rs778315045 SLCO5A1 Nonsynonymous SNV S67P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 74558 chr9 135102368 135102368 C T rs377354551 NTNG2 Synonymous SNV A330A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 74559 chr22 31032952 31032952 T G rs150781327 SLC35E4 Nonsynonymous SNV L172R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 74560 chr9 135158690 135158690 C T rs34073320 SETX Synonymous SNV G2169G 0.026 0.013 0.024 13 31 5 0.033 7 2 0 0 0 Benign 17.69 74561 chr9 113444988 113444988 T A rs775587809 MUSK Nonsynonymous SNV D38E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 74562 chrX 75003429 75003429 C T rs138640909 MAGEE2 Synonymous SNV R486R 0.011 0.008 0.014 0 13 3 0 4 4 0 1 0 11.48 74563 chrX 75004167 75004167 C T rs376554389 MAGEE2 Synonymous SNV P240P 0.005 0.003 0 0 6 1 0 0 2 0 0 0 13.54 74564 chr9 139910169 139910169 C T ABCA2 Nonsynonymous SNV A1158T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 74565 chr22 31301885 31301885 G A rs548359613 OSBP2 Nonsynonymous SNV E357K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 74566 chrX 77913196 77913196 G C rs199644700 RTL3 Nonsynonymous SNV T241S 0.008 0.003 0 3 9 1 0.008 0 3 0 0 1 0.001 74567 chr22 31324072 31324072 G A rs769387633 MORC2 Synonymous SNV R988R 0.003 0 0 0 3 0 0 0 0 0 0 0 13.19 74568 chr21 46875623 46875623 C T rs199929202 COL18A1 Nonsynonymous SNV T60I 0 0 0.007 0 0 0 0 2 0 0 0 0 7.566 74569 chr9 136405809 136405809 G A rs756311258 ADAMTSL2 Nonsynonymous SNV G168S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 74570 chrX 96603232 96603232 A G DIAPH2 Nonsynonymous SNV I988V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.21 74571 chr9 140095002 140095002 G T rs562167855 TPRN Synonymous SNV G54G 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 Likely benign 1.947 74572 chrX 109697443 109697443 T C rs41306249 RTL9 Nonsynonymous SNV W1200R 0.011 0.021 0.007 3 13 8 0.008 2 3 3 0 0 24.5 74573 chr9 140115455 140115455 T C rs568207994 RNF208 Synonymous SNV T70T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 74574 chrX 96139774 96139774 C T rs761871309 RPA4 Synonymous SNV T155T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.875 74575 chrX 9866308 9866308 G A rs773644766 SHROOM2 Nonsynonymous SNV E957K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.51 74576 chr9 140130795 140130795 G T rs200090657 SLC34A3 Nonsynonymous SNV S576I 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Uncertain significance 21.9 74577 chr8 8176049 8176049 C T rs377087982 PRAG1 Nonsynonymous SNV R1279Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 27.6 74578 chr9 116082764 116082764 C T rs141627600 WDR31 Nonsynonymous SNV R93Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 74579 chr9 136910475 136910475 C T rs62639998 BRD3 Synonymous SNV S385S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.92 74580 chr9 136289540 136289540 A G rs782149039 ADAMTS13 Nonsynonymous SNV D91G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 74581 chr22 32843258 32843258 C T rs148657721 BPIFC Synonymous SNV A105A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.564 74582 chr9 136915502 136915502 G A rs55913213 BRD3 Synonymous SNV V236V 0.032 0.039 0.02 7 38 15 0.018 6 0 0 0 0 9.215 74583 chr21 47571889 47571889 G A FTCD Synonymous SNV L125L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.137 74584 chr10 16562609 16562609 G A rs75810014 C1QL3 Synonymous SNV L152L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.974 74585 chr10 16930427 16930427 A G rs117620008 CUBN Nonsynonymous SNV F2965S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 74586 chr21 47671275 47671275 - AAT rs17176758 MCM3AP-AS1 0 0 0.207 0 0 0 0 61 0 0 30 0 74587 chr21 47671305 47671305 A G rs2839170 MCM3AP-AS1 0 0 0.235 0 0 0 0 69 0 0 17 0 2.238 74588 chr9 116357216 116357216 C T rs778725884 RGS3 Nonsynonymous SNV A37V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 74589 chr8 86039059 86039061 CTT - LRRCC1 L91del 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 74590 chr10 101639978 101639978 C T rs148004684 DNMBP Nonsynonymous SNV G1012S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 12.48 74591 chr9 140638534 140638534 G A rs11137198 EHMT1 Nonsynonymous SNV A357T 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 Benign 1.291 74592 chrX 12937234 12937234 C T rs56194919 TLR8 Synonymous SNV C25C 0.015 0.016 0.027 5 18 6 0.013 8 6 2 4 2 6.399 74593 chr22 37322101 37322101 C T rs61736839 CSF2RB Synonymous SNV C91C 0.012 0.023 0.007 8 14 9 0.021 2 0 0 0 0 Benign 13.15 74594 chr10 102891680 102891680 G A rs113474709 TLX1 Nonsynonymous SNV A128T 0.026 0.016 0.02 5 30 6 0.013 6 2 0 0 0 23.4 74595 chr22 17640399 17640399 - GGC rs3217110 HDHD5-AS1 0 0 0.306 0 0 0 0 90 0 0 17 0 74596 chr9 139100733 139100733 G A rs151235947 QSOX2 Synonymous SNV G646G 0.011 0.01 0.003 7 13 4 0.018 1 0 0 0 0 Benign 7.414 74597 chr9 18706964 18706964 C T rs373891228 ADAMTSL1 Synonymous SNV L598L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.783 74598 chr10 104416520 104416520 G A rs367845188 TRIM8 Synonymous SNV P323P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.716 74599 chr22 37876307 37876307 G A rs146256245 MFNG Nonsynonymous SNV A98V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 74600 chr22 18979405 18979405 A C rs1210635 DGCR5 0 0 0.52 0 0 0 0 153 0 0 57 0 0.434 74601 chr22 18982097 18982097 G A rs2913 DGCR5 0 0 0.014 0 0 0 0 4 0 0 2 0 4.595 74602 chr22 19006252 19006252 C A rs117074216 DGCR9 0 0 0.031 0 0 0 0 9 0 0 0 0 7.511 74603 chr9 139273485 139273485 G C rs150618384 SNAPC4 Nonsynonymous SNV P932A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.001 74604 chr9 19409094 19409094 G C rs144513346 ACER2 Synonymous SNV P4P 0.005 0 0.007 2 6 0 0.005 2 1 0 0 0 13.63 74605 chr10 104679371 104679371 C T rs2297785 CNNM2 Synonymous SNV L378L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 9.636 74606 chr22 38061859 38061859 C T rs769953009 PDXP Nonsynonymous SNV T291I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.87 74607 chr9 118163498 118163498 G A rs41307469 DEC1 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 1.139 74608 chr9 139306503 139306503 C T rs142694992 PMPCA Synonymous SNV I42I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Likely benign 14.06 74609 chr8 98837320 98837320 G T rs147058372 LAPTM4B Nonsynonymous SNV R181L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 74610 chr22 19883021 19883021 C G rs201503021 TXNRD2 Nonsynonymous SNV R286S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.83 74611 chr9 119093635 119093635 G A rs200046193 PAPPA Nonsynonymous SNV R1087Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 74612 chr22 19960512 19960512 A G rs115344498 ARVCF Nonsynonymous SNV V829A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.11 74613 chr10 105362614 105362614 C A rs140520112 SH3PXD2A Nonsynonymous SNV Q668H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 74614 chr10 105362827 105362827 G A rs143236434 SH3PXD2A Synonymous SNV G597G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.117 74615 chr22 20097585 20097585 C T rs148884257 DGCR8 Nonsynonymous SNV A726V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 74616 chr9 139751164 139751164 G A rs117093136 MAMDC4 Nonsynonymous SNV V575I 0.027 0.026 0.034 16 32 10 0.041 10 0 0 0 0 0.065 74617 chr9 123902995 123902995 G A rs200179809 CNTRL Nonsynonymous SNV R253H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 74618 chr10 1065580 1065580 C T rs201575182 IDI2 Synonymous SNV A187A 0.006 0.013 0 3 7 5 0.008 0 0 0 0 0 10.75 74619 chr9 27548554 27548554 C T rs776218894 C9orf72 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 74620 chrX 147088321 147088321 C T rs781859976 FMR1NB Nonsynonymous SNV S166L 0.004 0.005 0 0 5 2 0 0 1 0 0 0 0.012 74621 chrX 14876048 14876048 T A FANCB Nonsynonymous SNV D378V 0 0.008 0 2 0 3 0.005 0 0 1 0 1 7.521 74622 chr9 139753766 139753766 C T rs202237802 MAMDC4 Nonsynonymous SNV P1064S 0.008 0 0.003 0 9 0 0 1 0 0 0 0 11.69 74623 chr10 29821478 29821478 G A rs370627399 SVIL Synonymous SNV N606N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.63 74624 chr22 21385277 21385277 C T rs76136208 SLC7A4 Synonymous SNV S275S 0.013 0.005 0.017 4 15 2 0.01 5 0 0 0 0 2.519 74625 chr9 139925396 139925396 G A rs145461866 FUT7 Synonymous SNV F265F 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 6.905 74626 chr9 139937518 139937518 G A rs145554537 NPDC1 Synonymous SNV A40A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.171 74627 chr9 32632006 32632006 C T rs199906668 TAF1L Nonsynonymous SNV R1191Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 74628 chr22 21983906 21983906 G A rs200217423 YDJC Synonymous SNV D103D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 15.82 74629 chr10 108437080 108437080 C T rs201674495 SORCS1 Nonsynonymous SNV R608Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 74630 chr9 140115554 140115554 G A rs144152667 RNF208 Synonymous SNV H37H 0.014 0.008 0.003 7 17 3 0.018 1 0 0 0 0 0.407 74631 chr9 140120111 140120111 C T rs200002597 CYSRT1 Nonsynonymous SNV A13V 0.006 0 0 3 7 0 0.008 0 0 0 0 0 23.5 74632 chr9 140140111 140140111 G A rs74872755 FAM166A Nonsynonymous SNV P84L 0.015 0.016 0.003 9 18 6 0.023 1 0 0 0 0 23.3 74633 chr22 43193603 43193603 G A rs11913246 ARFGAP3 Synonymous SNV Y470Y 0.02 0.013 0.027 4 24 5 0.01 8 0 0 0 0 2.073 74634 chr22 43218397 43218397 T C rs9607957 ARFGAP3 Nonsynonymous SNV S187G 0.019 0.01 0.027 4 22 4 0.01 8 0 0 0 0 7.702 74635 chr22 43278199 43278199 C T PACSIN2 Synonymous SNV P258P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.91 74636 chr9 140147765 140147765 C T rs1134511 STPG3 Synonymous SNV P337P 0.015 0.008 0.02 4 18 3 0.01 6 0 0 0 0 7.901 74637 chr10 116038515 116038515 G A rs141503948 VWA2 Synonymous SNV T246T 0.005 0.01 0.003 4 6 4 0.01 1 0 0 0 0 10.93 74638 chrX 153171649 153171649 G A rs782608859 AVPR2 Nonsynonymous SNV R230Q 0.013 0.016 0 9 15 6 0.023 0 4 1 0 3 23.5 74639 chr9 140267490 140267490 G A rs143312119 EXD3 Nonsynonymous SNV A110V 0.014 0.008 0.01 5 17 3 0.013 3 1 0 0 0 10.71 74640 chr22 24179066 24179066 G A rs116973561 DERL3 Nonsynonymous SNV P233L 0.026 0.021 0.007 7 31 8 0.018 2 1 0 0 1 6.771 74641 chr10 115612530 115612530 G A rs41292634 DCLRE1A Stop gain R138X 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 37 74642 chr10 3823906 3823906 C T rs112847236 KLF6 Synonymous SNV R201R 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 11.12 74643 chrX 153641557 153641557 C T TAZ Synonymous SNV L84L 0.002 0.003 0 0 2 1 0 0 1 0 0 0 15.51 74644 chr9 140473086 140473086 G C rs966875733 DPH7 Synonymous SNV P48P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.408 74645 chr22 24827158 24827158 G A rs200338456 ADORA2A-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.4 74646 chr9 140508600 140508600 G C rs143839448 ARRDC1 Nonsynonymous SNV Q184H 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 14.2 74647 chr9 129456119 129456119 G A rs150656317 LMX1B Nonsynonymous SNV G305D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.515 74648 chr22 25147369 25147369 T G rs780294646 PIWIL3 Synonymous SNV I358I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.74 74649 chrX 17743940 17743940 C T rs150688899 NHS Nonsynonymous SNV P374S 0.024 0.063 0.051 11 28 24 0.028 15 5 8 7 3 Benign 22.9 74650 chrX 17746244 17746244 T C rs3747295 NHS Nonsynonymous SNV F1142L 0.056 0.076 0.109 13 66 29 0.033 32 14 10 14 4 Benign 0.048 74651 chr9 15784560 15784560 A G rs55780067 CCDC171 Synonymous SNV A1053A 0.036 0.049 0.054 11 42 19 0.028 16 0 0 0 0 10.75 74652 chr10 120825007 120825007 C A rs1011905818 EIF3A Synonymous SNV L342L 0.006 0.01 0 0 7 4 0 0 0 0 0 0 13.01 74653 chrX 21874626 21874626 C T rs151018360 YY2 Synonymous SNV S8S 0.009 0.029 0.007 3 10 11 0.008 2 4 4 1 1 7.801 74654 chrX 23019248 23019248 C T rs34737763 DDX53 Synonymous SNV D358D 0.008 0.005 0.014 1 9 2 0.003 4 1 0 1 0 4.273 74655 chr22 45127632 45127632 G A PRR5 Synonymous SNV L20L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.5 74656 chr9 6254512 6254512 G C rs374327585 IL33 Nonsynonymous SNV D65H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 74657 chr9 15571709 15571709 T C rs36076754 CCDC171 Synonymous SNV H43H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.983 74658 chr9 6328996 6328996 G A rs117022582 TPD52L3 Nonsynonymous SNV G134E 0.008 0.016 0 0 9 6 0 0 0 0 0 0 24.6 74659 chr22 26868381 26868381 A G rs373900001 HPS4 Nonsynonymous SNV C125R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.184 74660 chr9 6888063 6888063 G A rs750471377 KDM4C Synonymous SNV K80K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 74661 chr9 130829375 130829375 G A NAIF1 Synonymous SNV A2A 0.003 0 0 0 4 0 0 0 0 0 0 0 12.61 74662 chr9 131341997 131341997 T G rs144787939 SPTAN1 Nonsynonymous SNV S435A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 18.8 74663 chr9 20414006 20414006 C T MLLT3 Nonsynonymous SNV A277T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.11 74664 chr22 29745261 29745261 G A rs778249787 AP1B1 Synonymous SNV N461N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.15 74665 chrX 32486756 32486756 C T rs1800268 DMD Synonymous SNV S999S 0.025 0.016 0.007 20 29 6 0.051 2 8 1 1 7 Benign 14.65 74666 chr22 30403299 30403301 GTG - rs750960176 MTMR3 V290del 0 0 0.003 0 0 0 0 1 0 0 0 0 74667 chr10 123997018 123997018 G A rs75671139 TACC2 Nonsynonymous SNV D794N 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 25.2 74668 chr9 27949709 27949709 G A rs745613287 LINGO2 Nonsynonymous SNV R321C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 28.3 74669 chr22 30857605 30857605 T G rs747318211 SEC14L3 Nonsynonymous SNV Q283P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 17.95 74670 chrX 40498263 40498263 C G rs145752299 CXorf38 Nonsynonymous SNV E38Q 0 0.01 0.007 0 0 4 0 2 0 1 1 0 24.5 74671 chr10 125434429 125434429 C T rs760776741 GPR26 Nonsynonymous SNV A255V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 74672 chr9 27950210 27950210 T C LINGO2 Nonsynonymous SNV N154D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.39 74673 chr9 117822133 117822133 C T rs61729505 TNC Synonymous SNV T1394T 0.024 0.034 0.017 8 28 13 0.021 5 0 0 0 0 14.13 74674 chr9 79320095 79320095 T G rs3739524 PRUNE2 Nonsynonymous SNV L2365F 0.088 0.073 0.129 26 103 28 0.067 38 3 2 2 1 0.025 74675 chr9 304628 304628 G A rs149918318 DOCK8 Nonsynonymous SNV R83Q 0.005 0 0.014 0 6 0 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 74676 chr9 34256571 34256571 T C KIF24 Nonsynonymous SNV S1012G 0.006 0 0 0 7 0 0 0 0 0 0 0 0.021 74677 chr9 79320847 79320847 G C rs2077181 PRUNE2 Nonsynonymous SNV Q2115E 0.066 0.052 0.099 16 78 20 0.041 29 2 2 2 0 3.328 74678 chr9 32481339 32481339 C T rs61752945 DDX58 Nonsynonymous SNV R546Q 0.018 0.005 0.02 7 21 2 0.018 6 0 0 0 0 Benign 27.3 74679 chr9 133884747 133884747 A G rs201962705 LAMC3 Nonsynonymous SNV Q49R 0.01 0.013 0.007 1 12 5 0.003 2 0 0 0 0 Benign/Likely benign 14.17 74680 chrX 49086688 49086688 C T rs185809548 CACNA1F Nonsynonymous SNV G271R 0.008 0.013 0 2 9 5 0.005 0 3 1 0 1 Likely benign 22 74681 chr22 31971351 31971351 C T rs78295829 SFI1 Nonsynonymous SNV R271W 0.014 0.013 0.01 5 17 5 0.013 3 0 0 0 0 24.3 74682 chrX 49454089 49454089 C T rs145925230 PAGE1 Nonsynonymous SNV R117H 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 16.93 74683 chrX 50054018 50054018 C T CCNB3 Nonsynonymous SNV A950V 0 0.005 0 0 0 2 0 0 0 0 0 0 3.541 74684 chr9 79323977 79323977 G T rs73650284 PRUNE2 Synonymous SNV V1071V 0.004 0.008 0.014 2 5 3 0.005 4 0 0 0 0 Benign 10.9 74685 chr9 79324439 79324439 A G rs12238013 PRUNE2 Synonymous SNV D917D 0.066 0.052 0.099 17 78 20 0.044 29 2 2 2 0 0.003 74686 chr10 128192928 128192928 C A C10orf90 Nonsynonymous SNV A281S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.59 74687 chr9 79324955 79324955 C T rs11145017 PRUNE2 Nonsynonymous SNV M745I 0.066 0.052 0.099 16 78 20 0.041 29 2 2 2 0 0.002 74688 chr10 126150523 126150523 C A rs75426652 LHPP Nonsynonymous SNV T31K 0.002 0.008 0.003 0 2 3 0 1 0 1 0 0 4.912 74689 chr9 79325297 79325297 T G rs11145018 PRUNE2 Synonymous SNV T631T 0.066 0.052 0.099 16 78 20 0.041 29 2 2 2 0 0.052 74690 chr22 32808078 32808078 G A rs11545749 RTCB Synonymous SNV I22I 0.036 0.029 0.031 9 42 11 0.023 9 0 0 0 0 15.47 74691 chr22 32810378 32810378 T G rs35856742 BPIFC Nonsynonymous SNV E479A 0.036 0.029 0.031 9 42 11 0.023 9 0 0 0 0 23.5 74692 chr9 134038483 134038483 T G rs35631340 NUP214 Synonymous SNV L872L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.699 74693 chr9 123800218 123800218 C T rs17216529 C5 Nonsynonymous SNV V151I 0.019 0.008 0.034 4 22 3 0.01 10 3 0 0 0 22.9 74694 chr9 79325759 79325759 C T rs11145019 PRUNE2 Synonymous SNV V477V 0.066 0.052 0.099 16 78 20 0.041 29 2 2 2 0 0.004 74695 chr9 80919807 80919807 G A rs41277897 PSAT1 Synonymous SNV K116K 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 Benign 14.66 74696 chr10 129869086 129869086 C T PTPRE Synonymous SNV V216V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.01 74697 chr22 35806815 35806815 T C rs133417 MCM5 Synonymous SNV T277T 0.056 0.052 0.034 22 66 20 0.056 10 2 0 0 1 4.129 74698 chr9 134396827 134396827 G A rs202140413 POMT1 Nonsynonymous SNV R446Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 29.7 74699 chr9 35091715 35091715 C T rs780502790 PIGO Synonymous SNV S723S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.898 74700 chrX 67272395 67272395 G A rs148208753 OPHN1 Nonsynonymous SNV R788W 0.005 0.005 0 0 6 2 0 0 2 0 0 0 Benign/Likely benign 32 74701 chr22 36146500 36146503 TCTA - rs754285127 RBFOX2 I309Nfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 74702 chr9 35712931 35712931 C T rs148339706 TLN1 Synonymous SNV T1154T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 19.13 74703 chr9 90500193 90500193 C G rs59256416 SPATA31E1 Nonsynonymous SNV A264G 0.017 0.029 0.034 9 20 11 0.023 10 0 0 1 0 0.005 74704 chr9 90500224 90500224 C T rs58932350 SPATA31E1 Synonymous SNV P274P 0.017 0.029 0.034 9 20 11 0.023 10 0 0 1 0 10.94 74705 chr10 129905712 129905712 T C rs141046519 MKI67 Synonymous SNV L1104L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 3.194 74706 chr9 90500627 90500627 G A rs34946554 SPATA31E1 Nonsynonymous SNV V409M 0.015 0.026 0.027 7 18 10 0.018 8 0 0 1 0 0.001 74707 chr10 55566831 55566831 - GTT rs143978284 PCDH15 T1512_G1513insT 0.002 0.003 0 0 2 1 0 0 0 0 0 0 74708 chr10 55581883 55581885 GTT - rs113363047 PCDH15 T1829del 0.004 0.008 0.01 1 5 3 0.003 3 0 0 1 0 74709 chr9 90500909 90500909 C T rs75035814 SPATA31E1 Nonsynonymous SNV P503S 0.015 0.026 0.027 7 18 10 0.018 8 0 0 1 0 0.003 74710 chr10 55591253 55591253 G T rs61731387 PCDH15 Nonsynonymous SNV Q1271K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 27.5 74711 chr9 35958056 35958056 C T rs143065205 OR2S2 Nonsynonymous SNV V14I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.678 74712 chrX 12734585 12734585 T C rs67823099 FRMPD4 Synonymous SNV L629L 0.011 0.01 0.01 0 13 4 0 3 4 1 1 0 Likely benign 0.005 74713 chr10 55944972 55944972 G A rs61735479 PCDH15 Synonymous SNV V417V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.689 74714 chr9 90501500 90501500 G A rs34017995 SPATA31E1 Nonsynonymous SNV G700R 0.015 0.026 0.027 7 18 10 0.018 8 0 0 1 0 2.262 74715 chr9 90501514 90501514 C G rs4076794 SPATA31E1 Nonsynonymous SNV D704E 0.053 0.076 0.065 24 62 29 0.062 19 1 0 2 0 0.002 74716 chr9 90501609 90501609 C T rs34791830 SPATA31E1 Nonsynonymous SNV A736V 0.015 0.026 0.027 7 18 10 0.018 8 0 0 1 0 8.787 74717 chrX 13637306 13637306 A G rs139523577 EGFL6 Nonsynonymous SNV E376G 0.003 0.005 0 0 3 2 0 0 0 1 0 0 7.18 74718 chr9 90588970 90588970 C A rs28364935 CDK20 Nonsynonymous SNV C32F 0.022 0.023 0.027 7 26 9 0.018 8 0 0 1 1 6.156 74719 chr10 134649709 134649709 C T rs76581191 CFAP46 Nonsynonymous SNV G2184S 0.017 0.016 0.014 12 20 6 0.031 4 0 0 0 0 7.913 74720 chr10 134674027 134674027 - CTGAGGACAGGCAGGGGTGGATACGGGTGTGT CFAP46 Frameshift insertion V1698Tfs*40 0 0.003 0 2 0 1 0.005 0 0 0 0 0 74721 chr22 37906308 37906308 - CTCCTT rs574761780 CARD10 E273_P274insKE 0.037 0.042 0.034 14 43 16 0.036 10 1 2 1 0 74722 chr9 95237024 95237024 - TCATCA ASPN D50_E51insDD 0.046 0.021 0.014 26 54 8 0.067 4 5 0 1 3 74723 chr9 126129579 126129579 G T rs74778545 CRB2 Nonsynonymous SNV A295S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.024 74724 chr10 134013974 134013974 C A rs114312744 DPYSL4 Nonsynonymous SNV P309Q 0.004 0 0.003 5 5 0 0.013 1 1 0 0 0 25.6 74725 chrX 79281202 79281202 G A rs34244923 TBX22 Nonsynonymous SNV E67K 0.056 0.052 0.065 39 66 20 0.1 19 14 5 6 12 Benign 32 74726 chrX 19428055 19428055 T C rs757599496 MAP3K15 Nonsynonymous SNV I579V 0.003 0 0 0 4 0 0 0 1 0 0 0 15.3 74727 chrX 25031272 25031272 A G rs936582415 ARX Synonymous SNV A280A 0.003 0 0 0 4 0 0 0 1 0 0 0 2.241 74728 chr9 5920454 5920454 T G rs41281753 KIAA2026 Nonsynonymous SNV T1848P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.006 74729 chrX 9863112 9863112 A G rs6530341 SHROOM2 Synonymous SNV P388P 0.109 0.078 0.129 39 128 30 0.1 38 39 9 14 11 0.004 74730 chr10 134733618 134733618 C T rs549781167 CFAP46 Nonsynonymous SNV V559M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 26.8 74731 chr9 71532652 71532652 G T PIP5K1B Synonymous SNV G320G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.858 74732 chr9 99220731 99220731 C G rs773493966 HABP4 Synonymous SNV L140L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.59 74733 chr10 135106689 135106689 G A rs138230773 TUBGCP2 Nonsynonymous SNV A163V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.2 74734 chr10 15113876 15113876 G C rs141112464 OLAH Nonsynonymous SNV A219P 0.02 0.016 0.02 9 23 6 0.023 6 1 0 0 0 26.5 74735 chr9 139369816 139369816 G C rs200394508 SEC16A Nonsynonymous SNV A751G 0.006 0.005 0 4 7 2 0.01 0 0 0 0 1 0.017 74736 chr9 139400320 139400320 G A rs183156491 NOTCH1 Nonsynonymous SNV A1343V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 23.2 74737 chr22 41609690 41609690 C T rs3818003 LOC100506544 0 0 0.146 0 0 0 0 43 0 0 6 0 2.835 74738 chrX 44094597 44094597 G A rs372430413 EFHC2 Synonymous SNV L459L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.18 74739 chr9 139403373 139403373 G A NOTCH1 Synonymous SNV C1040C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.064 74740 chr9 131076155 131076155 C T rs41306706 TRUB2 Nonsynonymous SNV R87H 0.02 0.016 0.007 6 24 6 0.015 2 0 0 0 0 22.8 74741 chr9 139412698 139412698 G A rs368665838 NOTCH1 Synonymous SNV N382N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 12.46 74742 chr9 131107439 131107439 G T rs140481562 SLC27A4 Nonsynonymous SNV G56V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 20.3 74743 chr1 1116124 1116124 G A TTLL10 Synonymous SNV L140L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.556 74744 chrX 47444663 47444663 C T rs1043428 TIMP1 Synonymous SNV P87P 0.044 0.01 0.031 19 52 4 0.049 9 10 1 4 5 19.08 74745 chr10 13698927 13698927 C T rs368649469 FRMD4A Nonsynonymous SNV G579S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.23 74746 chr9 79319874 79319874 C A rs3739523 PRUNE2 Nonsynonymous SNV S2439I 0.012 0.005 0.014 2 14 2 0.005 4 0 0 1 0 23.1 74747 chr10 70451244 70451244 C T rs149262901 TET1 Synonymous SNV H2028H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.34 74748 chr10 15120942 15120942 A C rs151285977 ACBD7 Nonsynonymous SNV I37R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.05 74749 chr9 77613539 77613539 A G rs12380147 CARNMT1 Synonymous SNV D216D 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Benign 2.557 74750 chrX 47500700 47500700 C T rs2227997 ELK1 Synonymous SNV G47G 0.01 0.01 0.01 5 12 4 0.013 3 1 2 1 1 13.13 74751 chrX 110987987 110987987 A G rs772431643 ALG13 Synonymous SNV P929P 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 6.924 74752 chrX 114424814 114424814 G A rs188427252 RBMXL3 Synonymous SNV P270P 0.016 0.021 0.014 8 19 8 0.021 4 5 4 0 2 0.435 74753 chr22 42354487 42354487 - GAGA LINC00634 0 0 0.126 0 0 0 0 37 0 0 9 0 74754 chrX 48922165 48922165 C T rs782366460 CCDC120 Synonymous SNV L232L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.98 74755 chr9 139699034 139699034 G A rs117422847 CCDC183 Synonymous SNV L249L 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 13.86 74756 chr9 79325200 79325200 A G rs200382420 PRUNE2 Nonsynonymous SNV S664P 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 20.3 74757 chrX 127185657 127185657 C T rs61732204 ACTRT1 Nonsynonymous SNV A177T 0.021 0.023 0.017 8 25 9 0.021 5 4 2 1 2 25.7 74758 chr9 139835609 139835609 C T rs527442645 FBXW5 Nonsynonymous SNV R491Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 74759 chr9 131830569 131830569 C T rs773303403 MIGA2 Synonymous SNV A454A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.34 74760 chr22 43448117 43448117 T C rs2076160 LOC100506679 0 0 0.014 0 0 0 0 4 0 0 1 0 1.945 74761 chr10 71712697 71712697 G A rs144348670 COL13A1 Synonymous SNV A635A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.41 74762 chrX 54278049 54278049 T G WNK3 Nonsynonymous SNV Q813H 0.003 0 0 0 4 0 0 0 1 0 0 0 24.4 74763 chr10 71876390 71876390 G A rs146365906 AIFM2 Nonsynonymous SNV R253C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.23 74764 chrX 65244943 65244945 GAT - VSIG4 I194del 0.002 0 0 0 2 0 0 0 0 0 0 0 74765 chr1 2434017 2434017 C T rs146513018 PLCH2 Nonsynonymous SNV P1016L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.77 74766 chr9 139945979 139945979 C T rs551022562 ENTPD2 Synonymous SNV A123A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 74767 chr22 43606986 43606986 G A SCUBE1 Synonymous SNV T775T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.813 74768 chr9 86907624 86907624 T C rs11568418 SLC28A3 Nonsynonymous SNV I328V 0.005 0 0 3 6 0 0.008 0 0 0 0 0 5.601 74769 chrX 66765209 66765209 A - AR Q74Rfs*101 0.003 0 0 0 4 0 0 0 1 0 0 0 74770 chrX 66765211 66765221 CAGCAGCAGCA - AR Q75Afs*5 0.003 0 0 0 4 0 0 0 1 0 0 0 74771 chr9 91690082 91690082 C T rs35046724 SHC3 Nonsynonymous SNV S224N 0.021 0.029 0.031 4 25 11 0.01 9 0 0 0 0 15.53 74772 chr10 72496489 72496489 G A rs776500967 ADAMTS14 Synonymous SNV P513P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.096 74773 chr9 90272985 90272985 C G rs36215047 DAPK1 Nonsynonymous SNV I622M 0.008 0.005 0.007 9 9 2 0.023 2 0 0 0 0 23.5 74774 chr10 72500785 72500785 G A ADAMTS14 Synonymous SNV E597E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.63 74775 chrX 69615673 69615673 C T rs189824933 KIF4A Synonymous SNV L795L 0.002 0 0 3 2 0 0.008 0 0 0 0 1 13.45 74776 chrX 70099908 70099908 G A TEX11 Nonsynonymous SNV A30V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 74777 chrX 70343009 70343009 C G MED12 Nonsynonymous SNV S517C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 74778 chr9 140127302 140127302 T C rs371519982 SLC34A3 Nonsynonymous SNV I124T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 74779 chrX 140996100 140996100 T C rs148317976 MAGEC1 Synonymous SNV P970P 0.003 0 0 0 4 0 0 0 1 0 0 0 0.008 74780 chr1 3334493 3334493 C T rs59135929 PRDM16 Synonymous SNV N931N 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 Benign 12.85 74781 chr9 140130580 140130580 C T rs146854507 SLC34A3 Synonymous SNV F504F 0.014 0.034 0 7 16 13 0.018 0 1 0 0 0 Benign 13.93 74782 chr9 133948703 133948703 C A rs200253736 LAMC3 Synonymous SNV A1163A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 17.39 74783 chr10 24762833 24762833 G A rs41279868 KIAA1217 Nonsynonymous SNV R226H 0.003 0.013 0.003 2 4 5 0.005 1 0 0 0 0 32 74784 chr10 73056484 73056484 T C rs12783269 UNC5B Synonymous SNV H814H 0.012 0.01 0.007 0 14 4 0 2 0 0 0 0 1.399 74785 chr9 94984936 94984936 A T rs369430076 IARS1 Nonsynonymous SNV V1163E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 22 74786 chrX 150912056 150912056 G A rs41289500 CNGA2 Nonsynonymous SNV V361I 0.03 0.018 0.027 3 35 7 0.008 8 11 1 3 0 26.5 74787 chr9 94984937 94984937 C T rs202153931 IARS1 Nonsynonymous SNV V1163M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.5 74788 chr9 95228663 95228663 C T rs41278695 ASPN Nonsynonymous SNV G192E 0.009 0.013 0.01 3 10 5 0.008 3 0 0 0 0 31 74789 chr22 44968170 44968170 G T rs4453 LINC00207 0 0 0.442 0 0 0 0 130 0 0 57 0 0.063 74790 chr22 45132831 45132831 G A rs56299305 PRR5 Nonsynonymous SNV E196K 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 23.8 74791 chr22 45258261 45258261 T G rs770735672 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV L363R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 74792 chr9 95491490 95491490 T C rs61754130 BICD2 Nonsynonymous SNV K90R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.896 74793 chr9 95608528 95608528 G C rs139399797 ZNF484 Synonymous SNV G811G 0.003 0.01 0.01 2 3 4 0.005 3 0 0 0 0 0.042 74794 chr9 98211572 98211572 T A rs2236405 PTCH1 Nonsynonymous SNV T1143S 0.012 0.01 0.024 4 14 4 0.01 7 0 0 1 0 Benign/Likely benign 14.68 74795 chr22 45728482 45728482 A G rs35597676 FAM118A Synonymous SNV A202A 0.003 0.003 0.031 0 4 1 0 9 0 0 0 0 7.487 74796 chr9 99525909 99525909 T C rs10978862 ZNF510 Synonymous SNV S45S 0.021 0.031 0.075 5 25 12 0.013 22 0 2 2 0 3.826 74797 chr22 46403048 46403048 G A rs191200354 LOC730668 0 0 0.003 0 0 0 0 1 0 0 0 0 5.588 74798 chr9 99581811 99581811 C T rs4645656 ZNF782 Nonsynonymous SNV R141H 0.016 0.021 0.065 6 19 8 0.015 19 0 0 1 0 5.16 74799 chr22 46505624 46505624 T C rs57234197 MIRLET7BHG 0 0 0.071 0 0 0 0 21 0 0 1 0 0.132 74800 chr22 46505652 46505652 C G rs58819475 MIRLET7BHG 0 0 0.075 0 0 0 0 22 0 0 1 0 0.033 74801 chr9 99581916 99581916 C G rs7870376 ZNF782 Nonsynonymous SNV R106P 0.014 0.021 0.058 6 16 8 0.015 17 0 0 1 0 5.715 74802 chr22 46505786 46505786 T C rs61195212 MIRLET7BHG 0 0 0.075 0 0 0 0 22 0 0 1 0 0.19 74803 chr9 134406075 134406075 C T rs780770800 UCK1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.33 74804 chr22 46508452 46508452 G A rs738560 MIRLET7BHG 0 0 0.17 0 0 0 0 50 0 0 5 0 2.418 74805 chr9 134769299 134769299 G A rs372410213 MED27 Synonymous SNV N218N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.64 74806 chr10 74896664 74896664 T C rs36152134 ECD Nonsynonymous SNV N458S 0.041 0.052 0.058 17 48 20 0.044 17 2 1 1 1 0.07 74807 chr1 6445562 6445562 A G rs115915823 ACOT7 Synonymous SNV I55I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 4.631 74808 chr1 6528565 6528565 G A rs61749272 PLEKHG5 Synonymous SNV S777S 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 Benign 3.537 74809 chrX 100911707 100911707 G A rs143836164 ARMCX2 Nonsynonymous SNV R290W 0.003 0 0 0 3 0 0 0 1 0 0 0 25.5 74810 chr22 46742405 46742405 G A rs34012206 TRMU Nonsynonymous SNV E34K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 16.25 74811 chrX 100747681 100747681 G A rs111768798 ARMCX4 Nonsynonymous SNV V1369I 0.007 0 0.007 0 8 0 0 2 2 0 0 0 0.799 74812 chr9 135203910 135203910 - TCA rs572772837 SETX D1024_E1025insD 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 74813 chrX 19379640 19379640 G C rs15943 MAP3K15 Nonsynonymous SNV Q1251E 0.004 0.003 0.024 9 5 1 0.023 7 1 0 2 3 Benign 11.39 74814 chrX 101912118 101912118 C T rs2235804 GPRASP1 Nonsynonymous SNV P1093S 0.01 0 0.02 1 12 0 0.003 6 3 0 1 0 10.07 74815 chrX 103495552 103495552 T C rs41305431 ESX1 Nonsynonymous SNV K193R 0.022 0.021 0.02 11 26 8 0.028 6 7 1 1 4 23.9 74816 chr9 17273768 17273768 T C CNTLN Nonsynonymous SNV V296A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 74817 chr10 75187483 75187483 G A rs138597910 MSS51 Stop gain R89X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 74818 chr10 3187767 3187767 G A rs112587565 PITRM1-AS1 0.038 0.013 0.02 10 45 5 0.026 6 1 0 1 0 4.954 74819 chrX 100416556 100416556 C T CENPI Nonsynonymous SNV R712W 0.006 0.003 0 0 7 1 0 0 2 0 0 0 25.3 74820 chr1 9305406 9305406 G A H6PD Nonsynonymous SNV R149K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 74821 chrX 112024157 112024157 G T rs2286063 AMOT Synonymous SNV I810I 0.038 0.031 0.031 10 45 12 0.026 9 15 3 2 1 7.371 74822 chr10 75562240 75562240 C T rs149350791 NDST2 Nonsynonymous SNV R874Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22 74823 chrX 107844691 107844691 A G rs200348997 COL4A5 Nonsynonymous SNV R673G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 21.6 74824 chr10 75576661 75576661 G C rs746641671 CAMK2G Nonsynonymous SNV L355V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.578 74825 chr9 136269974 136269974 G A STKLD1 Synonymous SNV K598K 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.57 74826 chrX 118222854 118222854 G A rs376769242 KIAA1210 Nonsynonymous SNV S780F 0.005 0 0 1 6 0 0.003 0 2 0 0 0 0.004 74827 chr9 21333719 21333719 C T rs142392704 KLHL9 Nonsynonymous SNV M380I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.28 74828 chr22 50584130 50584130 G A rs55747387 MOV10L1 Nonsynonymous SNV A840T 0.017 0.008 0.034 6 20 3 0.015 10 1 0 0 0 8.312 74829 chrX 123467763 123467763 C T rs6649196 TEX13D Synonymous SNV N332N 0.027 0.034 0 12 32 13 0.031 0 9 4 0 4 4.723 74830 chr22 50691870 50691870 C T rs138582408 MAPK12 Nonsynonymous SNV R345Q 0.012 0.01 0.024 3 14 4 0.008 7 0 0 0 0 12.44 74831 chr9 25678196 25678196 T C rs72631813 TUSC1 Nonsynonymous SNV S42G 0.027 0.016 0.024 8 32 6 0.021 7 0 0 0 0 0.001 74832 chr9 136338580 136338580 G A rs41297217 SLC2A6 Synonymous SNV Y393Y 0.085 0.076 0.061 28 100 29 0.072 18 1 0 0 2 6.586 74833 chr9 136338598 136338598 C A rs41309954 SLC2A6 Synonymous SNV L387L 0.044 0.029 0.01 10 52 11 0.026 3 0 0 0 0 10.93 74834 chr10 79553803 79553803 C T rs41274578 DLG5 Synonymous SNV A1873A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 15.52 74835 chr9 26842442 26842442 C T rs41271167 CAAP1 Nonsynonymous SNV E170K 0.014 0.008 0.003 2 16 3 0.005 1 0 0 0 0 26.5 74836 chr10 79590565 79590565 G A rs370703846 DLG5 Synonymous SNV H605H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.67 74837 chr10 79601822 79601822 C T rs16935401 DLG5 Synonymous SNV S418S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 7.981 74838 chr10 79603375 79603375 G A rs34891538 DLG5 Synonymous SNV D318D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.22 74839 chr10 79603423 79603423 C T rs12257229 DLG5 Synonymous SNV L302L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.7 74840 chr10 79616520 79616520 G C rs12243930 DLG5 Synonymous SNV A168A 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 0.893 74841 chr22 50755782 50755782 G A rs145811594 DENND6B Synonymous SNV F131F 0.012 0.01 0.031 3 14 4 0.008 9 0 0 0 0 6.671 74842 chr10 43977143 43977143 C T rs751103348 ZNF487 Nonsynonymous SNV R137C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 74843 chrX 120183030 120183030 T G rs9697983 GLUD2 Nonsynonymous SNV S498A 0.042 0.065 0.085 17 49 25 0.044 25 12 8 9 5 Pathogenic 0.004 74844 chr22 50986429 50986476 CCCCAACCCCAGCCGCATCCCCTGCCCCAGCCCCCACCTCAGCCCCAA - rs758283899 KLHDC7B P597_A612del 0 0 0.031 0 0 0 0 9 0 0 0 0 74845 chrX 114540964 114540964 G A rs2232735 LUZP4 Synonymous SNV Q97Q 0.002 0 0 0 2 0 0 0 1 0 0 0 0.053 74846 chr10 46111950 46111950 A G rs1060848 ZFAND4 Synonymous SNV S706S 0.013 0.016 0.017 5 15 6 0.013 5 0 0 1 0 4.339 74847 chr9 139101101 139101101 G A rs55964657 QSOX2 Nonsynonymous SNV R524W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 28.6 74848 chr9 34622364 34622364 C T rs745431861 ARID3C Nonsynonymous SNV R343H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 74849 chrX 54069224 54069224 G T rs781976643 PHF8 Nonsynonymous SNV P16T 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 11.17 74850 chrX 135289279 135289279 C A FHL1 Synonymous SNV I103I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.52 74851 chr9 139642082 139642082 C T rs62582225 LOC100128593 0.009 0.005 0.007 5 10 2 0.013 2 0 0 0 0 1.552 74852 chr2 10188594 10188594 C T rs370236540 KLF11 Nonsynonymous SNV T360I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.76 74853 chrX 68060101 68060101 A G rs144441935 EFNB1 Synonymous SNV E215E 0.002 0 0 0 2 0 0 0 1 0 0 0 0.076 74854 chr9 35674191 35674208 GGAGAGGAGGATCTACCT - rs201260414 CA9 G91_P96del 0.026 0.029 0.054 9 30 11 0.023 16 0 0 0 0 74855 chr9 35674347 35674347 A T rs77984049 CA9 Nonsynonymous SNV R131W 0.025 0.029 0.051 9 29 11 0.023 15 0 0 0 0 23.6 74856 chr9 35675852 35675852 C G rs2301370 CA9 Synonymous SNV A176A 0.026 0.029 0.058 9 31 11 0.023 17 0 0 0 0 13.3 74857 chr10 49395301 49395302 AG - rs763761421 FRMPD2 V710Dfs*25 0.001 0.003 0 0 1 1 0 0 0 0 0 0 74858 chrX 135594075 135594075 G C HTATSF1 Nonsynonymous SNV R724T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 74859 chr10 47086990 47086990 G A rs140356253 NPY4R, NPY4R2 Synonymous SNV Q69Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.774 74860 chr9 35810245 35810245 G A rs61758536 SPAG8 Nonsynonymous SNV P421L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 26 74861 chr10 48370833 48370833 G A rs182445938 ZNF488 Nonsynonymous SNV A101T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 74862 chr10 49659006 49659006 G A rs80345791 ARHGAP22 Nonsynonymous SNV P299L 0.022 0.013 0.01 6 26 5 0.015 3 0 0 0 0 8.91 74863 chr9 35906601 35906601 - CCCCGCCACACCCCTCACCACCT HRCT1 Frameshift insertion H107Pfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 74864 chr2 105489000 105489000 G C rs13392356 LINC01159 0 0 0.02 0 0 0 0 6 0 0 2 0 9.019 74865 chr2 105489001 105489001 C A rs13418568 LINC01159 0 0 0.02 0 0 0 0 6 0 0 2 0 11.27 74866 chr10 94225450 94225450 C T rs747993929 IDE Nonsynonymous SNV R269H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 74867 chrX 149013108 149013108 A G MAGEA8 Nonsynonymous SNV E21G 0.003 0 0 0 4 0 0 0 1 0 0 0 22.1 74868 chr9 37707441 37707441 G A rs2296556 FRMPD1 Nonsynonymous SNV A44T 0.011 0.003 0.007 2 13 1 0.005 2 0 0 0 0 0.562 74869 chrX 150067044 150067044 C G rs782066225 CD99L2 Synonymous SNV S6S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.84 74870 chrX 16170424 16170424 G A rs776352760 GRPR Nonsynonymous SNV G271S 0.002 0 0 0 2 0 0 0 1 0 0 0 23.6 74871 chr9 139973486 139973486 G A rs747688160 UAP1L1 Synonymous SNV E243E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.83 74872 chr2 108968848 108968848 A C rs12329268 SULT1C2P1 0 0 0.034 0 0 0 0 10 0 0 0 0 0.121 74873 chrX 150840742 150840742 G A rs41312626 PASD1 Nonsynonymous SNV V509M 0.037 0.021 0.014 11 43 8 0.028 4 10 1 1 2 16.16 74874 chr9 139990813 139990813 C T rs61744585 MAN1B1 Nonsynonymous SNV P197L 0.015 0.016 0.02 8 18 6 0.021 6 0 0 0 0 Benign 9.355 74875 chrX 151092784 151092784 C T rs61746135 MAGEA4 Synonymous SNV S216S 0.028 0.021 0.048 20 33 8 0.051 14 9 1 3 4 10.64 74876 chrX 151123384 151123384 G A rs45439991 GABRE Nonsynonymous SNV P437L 0.032 0.034 0.037 6 37 13 0.015 11 7 1 3 2 15.81 74877 chr10 96748726 96748726 G T CYP2C9 Nonsynonymous SNV V472F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.471 74878 chr2 110015057 110015057 C T rs201743885 SH3RF3 Synonymous SNV S319S 0.019 0.023 0.014 5 22 9 0.013 4 0 0 0 0 17.17 74879 chr9 140066122 140066122 G A rs77298262 TMEM210 Synonymous SNV I65I 0.009 0.005 0.007 14 10 2 0.036 2 0 0 0 0 12.41 74880 chr9 140080741 140080741 G A rs148501048 ANAPC2 Nonsynonymous SNV R270W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29.6 74881 chr9 140094929 140094939 GCCGCGCCCCC - rs387906221 TPRN G76Afs*150 0.001 0 0 2 1 0 0.005 0 0 0 0 0 74882 chr1 17958929 17958929 C T rs201346737 ARHGEF10L Synonymous SNV N274N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.42 74883 chr1 17983106 17983106 C T rs199842710 ARHGEF10L Synonymous SNV S624S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 13.76 74884 chr9 140137810 140137810 C T rs374055052 TUBB4B Synonymous SNV R380R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.12 74885 chrX 152664156 152664156 A C rs782130495 PNMA6E Nonsynonymous SNV V51G 0.003 0 0 0 3 0 0 0 0 0 0 0 7.418 74886 chr9 140138215 140138215 T C rs111296843 FAM166A Synonymous SNV T297T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 74887 chrX 152939414 152939414 G A rs576348453 PNCK Nonsynonymous SNV P73S 0.007 0 0.014 0 8 0 0 4 2 0 1 0 12.09 74888 chrX 152939483 152939483 C G rs183794739 PNCK Nonsynonymous SNV G50R 0.007 0.003 0.014 0 8 1 0 4 2 0 1 0 23.4 74889 chrX 153032658 153032658 G A rs34360382 PLXNB3 Nonsynonymous SNV A126T 0.042 0.044 0.027 9 49 17 0.023 8 12 3 2 3 0.362 74890 chr2 113404665 113404665 A C SLC20A1 Nonsynonymous SNV K87T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 74891 chr10 99094271 99094271 T C rs942010550 FRAT2 Nonsynonymous SNV E20G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.42 74892 chr10 55566702 55566702 C T rs148772706 PCDH15 Synonymous SNV T1555T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 1.078 74893 chrX 153420114 153420114 G C OPN1LW Nonsynonymous SNV G215A 0.002 0 0 0 2 0 0 0 1 0 0 0 23.8 74894 chr1 19564616 19564616 G C rs747996783 EMC1 Nonsynonymous SNV F347L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.83 74895 chr2 113996769 113996769 C T rs180879480 PAX8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.264 74896 chr10 99236625 99236625 C T rs29001285 MMS19 Nonsynonymous SNV V39I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.4 74897 chr9 77377814 77377814 C G TRPM6 Nonsynonymous SNV C1253S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.61 74898 chr1 20442928 20442928 A G rs143525617 PLA2G2D Nonsynonymous SNV M28T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.7 74899 chr10 59986805 59986805 G A rs61749177 IPMK Synonymous SNV N124N 0.02 0.026 0.003 9 24 10 0.023 1 0 0 0 0 Benign 11.45 74900 chr10 5956204 5956204 C T rs78214360 FBH1 Synonymous SNV L382L 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 14.5 74901 chr2 119699906 119699906 C T rs80217020 MARCO Synonymous SNV D10D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 9.993 74902 chr1 20662944 20662944 C A rs147563081 VWA5B1 Nonsynonymous SNV A636D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.92 74903 chr10 60566766 60566766 A G BICC1 Nonsynonymous SNV M742V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 74904 chr9 15214158 15214158 G A TTC39B Nonsynonymous SNV A154V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 33 74905 chr10 6067977 6067977 C T rs55868253 IL2RA Nonsynonymous SNV D26N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.31 74906 chr1 20971142 20971142 G A rs56200357 PINK1 Synonymous SNV R312R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.03 74907 chr10 61552762 61552762 C T rs7899254 CCDC6 Synonymous SNV P446P 0.004 0.008 0.017 5 5 3 0.013 5 0 0 0 0 12.71 74908 chr2 120413984 120413984 C G rs116625089 CFAP221 Nonsynonymous SNV L821V 0.012 0.008 0.007 5 14 3 0.013 2 0 0 0 0 0.024 74909 chr10 100503793 100503793 A G rs147866530 HPSE2 Nonsynonymous SNV Y211H 0.037 0.049 0.044 10 44 19 0.026 13 1 1 0 0 23.8 74910 chr10 6266128 6266128 C T rs35050271 PFKFB3 Synonymous SNV S411S 0.003 0.01 0.003 5 3 4 0.013 1 0 0 0 0 15.5 74911 chr10 63700087 63700087 A C rs150284163 ARID5B Nonsynonymous SNV E141A 0.01 0.01 0.003 1 12 4 0.003 1 0 0 0 0 25.5 74912 chr9 19060197 19060197 A T rs41269003 HAUS6 Nonsynonymous SNV S517T 0.036 0.023 0.027 6 42 9 0.015 8 0 0 0 0 14.85 74913 chr9 19116543 19116543 G A rs2229536 PLIN2 Synonymous SNV I339I 0.037 0.026 0.034 6 43 10 0.015 10 0 0 0 0 11.07 74914 chr9 19119674 19119674 A G rs35568725 PLIN2 Nonsynonymous SNV S251P 0.035 0.023 0.034 6 41 9 0.015 10 0 0 0 0 21.7 74915 chrX 40539136 40539136 A G rs149954074 MED14 Nonsynonymous SNV Y954H 0.002 0 0 0 2 0 0 0 1 0 0 0 18.53 74916 chr9 2039827 2039827 G A rs10964525 SMARCA2 Synonymous SNV P239P 0.037 0.021 0.024 14 44 8 0.036 7 1 0 0 0 Benign/Likely benign 13.18 74917 chrX 44091831 44091831 C T rs192827775 EFHC2 Nonsynonymous SNV E506K 0.014 0.018 0.017 7 17 7 0.018 5 3 1 2 1 20.3 74918 chr10 102006681 102006681 C T rs17112787 CWF19L1 Synonymous SNV A103A 0.029 0.029 0.031 11 34 11 0.028 9 1 0 0 0 Likely benign 17.9 74919 chr2 128459612 128459612 G C SFT2D3 Synonymous SNV V170V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 74920 chrX 48931481 48931481 G A rs34565429 PRAF2 Nonsynonymous SNV L56F 0.003 0.005 0 2 3 2 0.005 0 1 0 0 1 0.224 74921 chr9 86615972 86615972 C T rs373651916 RMI1 Nonsynonymous SNV P24L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.005 74922 chr9 87325564 87325564 C T rs149433995 NTRK2 Synonymous SNV G147G 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 12.48 74923 chr9 88162066 88162066 T G rs138412470 AGTPBP1 Nonsynonymous SNV E1265D 0.009 0.005 0.007 3 11 2 0.008 2 1 0 0 0 4.725 74924 chrX 63445033 63445033 G A rs147025022 ASB12 Synonymous SNV N166N 0.01 0.003 0 0 12 1 0 0 3 0 0 0 9.536 74925 chr2 133403046 133403046 T G GPR39 Stop gain L410X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 74926 chrX 65253634 65253634 G A rs749206075 VSIG4 Nonsynonymous SNV P32S 0.006 0.003 0 0 7 1 0 0 2 0 0 0 22.8 74927 chr9 2639898 2639898 A G rs140526335 VLDLR Nonsynonymous SNV N81S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.85 74928 chr9 26905633 26905633 T C rs78886918 PLAA Nonsynonymous SNV D732G 0.003 0 0.007 6 3 0 0.015 2 0 0 0 0 Uncertain significance 13.31 74929 chr11 1017068 1017068 C T rs78992004 MUC6 Synonymous SNV T1911T 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 13.59 74930 chr10 70992651 70992651 C T rs539903056 HKDC1 Nonsynonymous SNV R120C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.2 74931 chr11 1017074 1017074 A G rs79277162 MUC6 Synonymous SNV F1909F 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 1.222 74932 chr11 1017088 1017088 A C rs74990443 MUC6 Nonsynonymous SNV S1905A 0.021 0.016 0.003 6 25 6 0.015 1 0 0 0 0 0.001 74933 chr10 105233086 105233086 A G rs764061995 CALHM3 Nonsynonymous SNV S307P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 74934 chrX 70823951 70823980 CCGACGACAGCAGTGATGATTCGGAAGCTT - rs770695386 GCNA S295_A304del 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 74935 chrX 77111008 77111008 G A MAGT1 Nonsynonymous SNV T251M 0.008 0.005 0 0 9 2 0 0 3 0 0 0 32 74936 chr2 136575268 136575268 C T LCT Synonymous SNV V450V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 74937 chr9 95481748 95481748 A T rs144427583 BICD2 Nonsynonymous SNV N393K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.538 74938 chr2 139428758 139428758 A G NXPH2 Synonymous SNV L177L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.692 74939 chr9 33463367 33463367 G A rs148170342 NOL6 Nonsynonymous SNV R1023C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.4 74940 chr2 141344200 141344200 T C rs56148568 MIR7157 0 0 0.248 0 0 0 0 73 0 0 7 0 0.68 74941 chr10 72300886 72300886 G A rs61857083 PALD1 Nonsynonymous SNV R646Q 0.004 0.01 0.007 2 5 4 0.005 2 0 0 0 0 17.58 74942 chrX 79286535 79286535 C T rs35602350 TBX22 Synonymous SNV D376D 0.015 0.013 0 6 18 5 0.015 0 3 1 0 2 Conflicting interpretations of pathogenicity 8.98 74943 chrX 96139850 96139850 C A rs758918264 RPA4 Nonsynonymous SNV P181T 0.003 0.005 0 0 4 2 0 0 1 1 0 0 13.5 74944 chrX 99662459 99662459 G A rs56277715 PCDH19 Synonymous SNV G379G 0.008 0.003 0 4 9 1 0.01 0 2 0 0 1 Benign 6.366 74945 chrX 85233820 85233820 T A rs145707160 CHM Nonsynonymous SNV S89C 0.019 0.031 0.031 1 22 12 0.003 9 5 3 3 0 Benign 23.3 74946 chr9 97062981 97062981 C T rs12236219 ZNF169 Nonsynonymous SNV R190C 0.032 0.026 0.054 12 38 10 0.031 16 1 0 2 0 25.3 74947 chrY 21868339 21868339 G A KDM5D Synonymous SNV R1362R 0.005 0 0 0 6 0 0 0 3 0 0 0 7.566 74948 chr10 72520414 72520414 C T rs375936038 ADAMTS14 Synonymous SNV S1159S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.21 74949 chrX 100749041 100749041 A G rs782433301 ARMCX4 Nonsynonymous SNV E1822G 0.021 0.008 0.014 7 25 3 0.018 4 0 0 0 0 15.21 74950 chr9 35906624 35906624 G A rs75458097 HRCT1 Nonsynonymous SNV A114T 0.043 0.044 0 21 51 17 0.054 0 8 0 0 4 14.25 74951 chr2 152977229 152977229 C T rs145382417 STAM2 Synonymous SNV Q479Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 74952 chr2 15470848 15470848 C T rs34395824 NBAS Synonymous SNV L1407L 0.024 0.042 0.031 22 28 16 0.056 9 2 1 0 3 10.1 74953 chrX 10422918 10422918 T C MID1 Synonymous SNV G549G 0.003 0.005 0 0 3 2 0 0 1 1 0 0 1.068 74954 chr1 1167796 1167796 C T rs190796582 B3GALT6 Synonymous SNV S46S 0.009 0.005 0 3 10 2 0.008 0 1 1 0 0 Benign/Likely benign 9.348 74955 chrX 106221389 106221389 T C rs41304048 MORC4 Nonsynonymous SNV N326S 0.037 0.036 0.031 13 44 14 0.033 9 10 4 3 3 4.793 74956 chrX 109697136 109697136 C G rs572935151 RTL9 Nonsynonymous SNV I1097M 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.275 74957 chr10 77161106 77161106 - CCG rs780118403 ZNF503 G27_A28insG 0.009 0.016 0.003 7 11 6 0.018 1 0 0 0 0 74958 chr10 77161112 77161112 T G rs11542744 ZNF503 Synonymous SNV G22G 0.02 0.023 0.014 13 23 9 0.033 4 0 0 0 0 0.007 74959 chr9 5908647 5908647 A G rs140942317 MLANA Nonsynonymous SNV N99S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.8 74960 chr10 79396252 79396252 C G rs139968359 KCNMA1 Nonsynonymous SNV E134Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.54 74961 chr10 79397263 79397263 - GAG rs572827902 KCNMA1 S60_V61insS 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 74962 chr2 166179779 166179779 T C rs141815642 SCN2A Synonymous SNV D595D 0.006 0.013 0.017 4 7 5 0.01 5 0 0 0 0 Benign 1.16 74963 chr9 6554781 6554781 C A rs143119940 GLDC Nonsynonymous SNV V735L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 29.8 74964 chr10 8006519 8006519 G C rs17366712 TAF3 Nonsynonymous SNV S349T 0.018 0.01 0.037 10 21 4 0.026 11 1 0 0 0 18.41 74965 chr10 121583382 121583382 G A rs41309996 INPP5F Synonymous SNV S129S 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 12.33 74966 chrX 123467146 123467146 C T TEX13D Nonsynonymous SNV L127F 0.006 0.005 0 4 7 2 0.01 0 2 1 0 1 4.894 74967 chrX 123467548 123467548 C A rs910234084 TEX13D Nonsynonymous SNV P261T 0.008 0.005 0 6 9 2 0.015 0 3 1 0 1 8.267 74968 chr1 27699636 27699636 G A rs773027277 FCN3 Synonymous SNV G117G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.148 74969 chr2 169103796 169103796 - GCCGGG rs537577117 STK39 A50_A51insPA 0.002 0 0.139 3 2 0 0.008 41 1 0 18 1 74970 chr10 111879027 111879027 A G rs55763936 ADD3 Nonsynonymous SNV D259G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 27.2 74971 chr10 85901326 85901326 G A GHITM Nonsynonymous SNV A24T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.2 74972 chr10 115338443 115338443 C T rs370513627 HABP2 Nonsynonymous SNV T183I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 74973 chr10 125780756 125780756 - C rs757304955 CHST15 Frameshift insertion P455Afs*51 0.003 0.005 0 0 4 2 0 0 0 0 0 0 74974 chr11 1075850 1075850 G A rs11825969 MUC2 Synonymous SNV E92E 0.136 0.161 0.173 69 160 62 0.177 51 17 5 7 7 0.172 74975 chr11 1075920 1075920 G A rs11825977 MUC2 Nonsynonymous SNV V116M 0.142 0.159 0.17 70 167 61 0.179 50 17 5 6 8 0.01 74976 chr10 91178223 91178223 T C rs763808953 IFIT5 Synonymous SNV L423L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.189 74977 chr11 1093094 1093094 T G rs758644449 MUC2 Nonsynonymous SNV V1638G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.037 74978 chr2 179447347 179447347 A G rs367636472 TTN-AS1 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.407 74979 chr1 38227639 38227639 G A rs142351615 EPHA10 Synonymous SNV G96G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.973 74980 chrX 150911856 150911856 A G rs140912877 CNGA2 Nonsynonymous SNV Y294C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 74981 chr10 129905774 129905774 G A rs150235556 MKI67 Nonsynonymous SNV P1084S 0.018 0.016 0.007 5 21 6 0.013 2 0 0 0 0 0.002 74982 chr10 118466715 118466715 A G rs782283157 HSPA12A Nonsynonymous SNV I41T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.829 74983 chr9 90501647 90501647 G C rs780053906 SPATA31E1 Nonsynonymous SNV V749L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.33 74984 chrX 152585054 152585054 C T PNMA6F Nonsynonymous SNV R360H 0.003 0 0 1 3 0 0.003 0 1 0 0 0 8.969 74985 chr10 121086097 121086097 A T rs2230345 GRK5 Nonsynonymous SNV Q41L 0.025 0.044 0.037 5 29 17 0.013 11 0 0 1 0 19.03 74986 chr11 113078585 113078585 C T rs372281288 NCAM1 Synonymous SNV D259D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 74987 chr10 95418708 95418708 C T rs41290222 PDE6C Nonsynonymous SNV T696M 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 Uncertain significance 25.2 74988 chr10 133769257 133769257 C T rs201010169 PPP2R2D Synonymous SNV T219T 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 7.122 74989 chrX 153178929 153178929 G A rs149100821 ARHGAP4 Synonymous SNV D420D 0.007 0 0 5 8 0 0.013 0 2 0 0 1 Benign 9.054 74990 chr9 94493330 94493330 G C rs55983376 ROR2 Nonsynonymous SNV H349D 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 12.89 74991 chrX 153207037 153207037 G T rs78377269 RENBP Nonsynonymous SNV A280D 0.009 0.008 0.014 5 10 3 0.013 4 3 1 2 1 3.574 74992 chr9 95048061 95048061 G A rs2230402 IARS1 Synonymous SNV P180P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.48 74993 chr10 134137877 134137877 - CTAT rs564621303 STK32C Frameshift insertion S101Nfs*33 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 74994 chr9 95237024 95237024 - TCCTCATCATCATCA ASPN D50_E51insDDDDE 0.005 0.013 0 5 6 5 0.013 0 0 0 0 0 74995 chr9 95872963 95872963 C A rs145273328 CARD19 Synonymous SNV A88A 0 0 0 1 0 0 0.003 0 0 0 0 0 15 74996 chrX 153581932 153581932 A G rs2070825 FLNA Synonymous SNV A1942A 0.043 0.039 0.082 17 51 15 0.044 24 12 4 9 5 Benign 5.102 74997 chrX 153678706 153678706 C T rs2070644 MIR6858 0.043 0.029 0.071 24 50 11 0.062 21 14 3 7 8 2.859 74998 chr10 98105765 98105765 C A OPALIN Nonsynonymous SNV R97L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.6 74999 chr2 180810202 180810202 C T rs1046356 CWC22 Nonsynonymous SNV R794Q 0.043 0.042 0.034 15 50 16 0.038 10 1 0 1 0 20.1 75000 chrX 153995548 153995548 A G DKC1 Synonymous SNV T177T 0.003 0.005 0 0 3 2 0 0 1 1 0 0 0.014 75001 chr10 98127979 98127979 G T TLL2 Nonsynonymous SNV P972T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.26 75002 chr2 180853325 180853325 C T rs201611161 CWC22 Nonsynonymous SNV R25K 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 25.1 75003 chrX 15474051 15474051 G C PIR Nonsynonymous SNV L134V 0.003 0.005 0 0 3 2 0 0 1 1 0 0 15.04 75004 chrX 20043893 20043893 C A rs148501612 MAP7D2 Synonymous SNV P309P 0.005 0.005 0.003 0 6 2 0 1 2 0 0 0 11.35 75005 chr9 97382668 97382668 C A rs16910744 FBP1 Synonymous SNV T92T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign 21.9 75006 chr11 117263236 117263236 A G rs201026482 CEP164 Nonsynonymous SNV I799V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.555 75007 chr1 43919294 43919294 C T rs562895474 HYI Synonymous SNV L57L 0.013 0.01 0 6 15 4 0.015 0 0 0 0 0 10.02 75008 chr11 100998554 100998554 A G rs762336123 PGR Synonymous SNV D416D 0.005 0 0 4 6 0 0.01 0 0 0 0 0 0.01 75009 chr10 99696059 99696059 C T rs143395515 CRTAC1 Nonsynonymous SNV V97I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.97 75010 chrX 106171514 106171514 T C rs151003816 CLDN2 Nonsynonymous SNV L19S 0 0 0 2 0 0 0.005 0 0 0 0 1 23.9 75011 chr1 45307694 45307694 C T rs45573433 PTCH2 Synonymous SNV L30L 0.026 0.026 0.007 10 31 10 0.026 2 1 0 0 0 Benign 12.12 75012 chr11 118452153 118452153 A G rs782236845 ARCN1 Nonsynonymous SNV M66V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 75013 chr1 45810690 45810690 A G TESK2 Nonsynonymous SNV M430T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 75014 chrX 106844865 106844865 C T rs746904830 FRMPD3 Nonsynonymous SNV S1232L 0 0 0 2 0 0 0.005 0 0 0 0 1 13.09 75015 chr11 118779309 118779309 C T rs145433932 BCL9L Nonsynonymous SNV G28S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 75016 chrX 34149693 34149693 G T rs201363312 FAM47A Nonsynonymous SNV L235I 0.005 0.008 0 0 6 3 0 0 1 1 0 0 14.44 75017 chr10 15177280 15177280 T C rs17156338 NMT2 Synonymous SNV P128P 0.005 0.005 0.014 4 6 2 0.01 4 0 0 1 0 0.03 75018 chr11 119061333 119061333 T C SNORD150 0 0.003 0 0 0 1 0 0 0 0 0 0 5.485 75019 chr2 190331262 190331262 T C rs2289223 WDR75 Synonymous SNV D467D 0.007 0.01 0.014 2 8 4 0.005 4 0 0 0 0 6.368 75020 chrX 118222775 118222775 C T rs61734971 KIAA1210 Synonymous SNV G806G 0.011 0.016 0.014 8 13 6 0.021 4 2 1 2 4 7.69 75021 chrX 35938139 35938139 C A rs142661727 CFAP47 Synonymous SNV R75R 0.009 0.008 0.003 0 11 3 0 1 3 1 0 0 13.39 75022 chr1 46746181 46746181 G A LRRC41 Nonsynonymous SNV A603V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 75023 chr10 16989271 16989271 C T rs74116778 CUBN Nonsynonymous SNV V1769I 0.013 0.005 0.01 4 15 2 0.01 3 0 0 0 0 Benign 12.68 75024 chr10 17152970 17152970 G A rs150309054 CUBN Synonymous SNV P321P 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Benign 7.678 75025 chrX 123519718 123519718 C T TENM1 Nonsynonymous SNV R1955Q 0 0 0 2 0 0 0.005 0 0 0 0 1 21 75026 chrX 128901662 128901662 C G rs41304538 XPNPEP2 Synonymous SNV P608P 0.004 0.018 0.014 8 5 7 0.021 4 0 2 1 3 10.76 75027 chr11 119986119 119986119 T C rs11604169 TRIM29 Nonsynonymous SNV Y283C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 75028 chr1 47882221 47882221 G A rs201158701 FOXE3 Synonymous SNV A78A 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 Benign/Likely benign 12.36 75029 chrX 38163964 38163964 G A RPGR Synonymous SNV P286P 0.005 0.003 0 0 6 1 0 0 1 0 0 0 Likely benign 8.603 75030 chrX 38182130 38182130 T C rs111631988 RPGR Nonsynonymous SNV I75V 0.015 0.005 0.034 0 18 2 0 10 5 0 4 0 Benign 0.001 75031 chr2 197986178 197986178 C T rs138806991 ANKRD44 Nonsynonymous SNV G262S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 75032 chr1 51253790 51253790 C T rs372485951 FAF1 Synonymous SNV A83A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 75033 chrX 44171953 44171953 T C rs17146914 EFHC2 Nonsynonymous SNV N31S 0.044 0.039 0.082 21 52 15 0.054 24 8 3 7 5 4.67 75034 chr10 21805466 21805466 - CCT SKIDA1 E428_G429insE 0.002 0.003 0 0 2 1 0 0 0 0 0 0 75035 chr10 23482218 23482218 G A PTF1A Synonymous SNV K253K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.019 75036 chr2 203991617 203991617 G A rs139126648 NBEAL1 Synonymous SNV Q1043Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.683 75037 chr2 20403770 20403770 G A rs148052728 SDC1 Nonsynonymous SNV T144M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.05 75038 chrX 50659227 50659227 C T rs782231542 BMP15 Stop gain R267X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 75039 chr11 123813635 123813635 G C rs200484458 OR6T1 Nonsynonymous SNV A304G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.062 75040 chr2 20482918 20482918 T G PUM2 Nonsynonymous SNV T448P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 75041 chrX 152710238 152710238 A G rs916046 TREX2 Synonymous SNV R217R 0.013 0.013 0.024 2 15 5 0.005 7 3 1 3 1 0.007 75042 chrX 152721198 152721198 A G rs6571305 HAUS7 Synonymous SNV A254A 0.013 0.013 0.024 2 15 5 0.005 7 3 1 3 1 2.413 75043 chrX 152990771 152990771 G A rs782693577 ABCD1 Nonsynonymous SNV R17H 0 0 0 2 0 0 0.005 0 0 0 0 1 Conflicting interpretations of pathogenicity 25.2 75044 chr1 22902734 22902734 G A rs142067038 EPHA8 Nonsynonymous SNV E62K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 32 75045 chrX 66766357 66766365 GGCGGCGGC - AR G471_G473del 0.005 0.005 0.003 3 6 2 0.008 1 1 1 0 1 75046 chr2 207026131 207026131 G A rs11546386 EEF1B2 Nonsynonymous SNV G89R 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 22 75047 chr2 207169548 207169548 A T rs149317779 ZDBF2 Nonsynonymous SNV D99V 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 17.84 75048 chrX 153694187 153694187 G A rs35567597 PLXNA3 Synonymous SNV T843T 0.023 0.026 0.017 9 27 10 0.023 5 9 3 2 4 1.711 75049 chr2 207176089 207176089 C T rs150880947 ZDBF2 Synonymous SNV A2279A 0.013 0.008 0.01 6 15 3 0.015 3 0 0 0 0 14.85 75050 chrX 70330815 70330815 G A rs756100347 IL2RG Synonymous SNV V67V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 11.1 75051 chr10 3162130 3162130 A G rs41288721 PFKP Nonsynonymous SNV E310G 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Likely benign 23.1 75052 chr2 208994384 208994384 G A rs533923837 CRYGC Synonymous SNV A11A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.194 75053 chrX 83390183 83390183 G A rs56080846 RPS6KA6 Synonymous SNV L179L 0.01 0.008 0.014 5 12 3 0.013 4 4 1 2 1 Benign 12.81 75054 chr10 323499 323499 T G rs144199668 DIP2C Synonymous SNV T1479T 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 Benign 0.004 75055 chrX 99890572 99890572 C T rs145821935 TSPAN6 Nonsynonymous SNV A87T 0.001 0.01 0 0 1 4 0 0 0 2 0 0 21.2 75056 chr2 213403248 213403248 G T ERBB4 Nonsynonymous SNV P3T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 75057 chrY 16952335 16952335 T C rs753595702 NLGN4Y Synonymous SNV H380H 0.019 0.016 0 0 22 6 0 0 10 3 0 0 0.314 75058 chr11 102818751 102818751 A C MMP13 Stop gain Y360X 0.003 0 0 0 3 0 0 0 0 0 0 0 41 75059 chr11 1027402 1027402 G A rs150964791 MUC6 Synonymous SNV D699D 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 3.334 75060 chrX 32663135 32663135 T G rs1800266 DMD Nonsynonymous SNV Q357H 0.001 0 0.014 2 1 0 0.005 4 0 0 2 1 Conflicting interpretations of pathogenicity 24 75061 chr10 45472928 45472928 G A rs150799803 DEPP1 Nonsynonymous SNV A184V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.431 75062 chr2 217082026 217082026 C T rs207897 LINC01963 0 0 0.619 0 0 0 0 182 0 0 80 0 3.009 75063 chr2 217347602 217347602 G A rs756530485 SMARCAL1 Nonsynonymous SNV G923R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 75064 chr11 10649293 10649293 G A rs35296427 MRVI1 Synonymous SNV A232A 0.014 0.013 0.01 7 16 5 0.018 3 0 0 0 0 14.29 75065 chrX 49021639 49021639 C T rs183982494 MAGIX Nonsynonymous SNV R131W 0.019 0.018 0 7 22 7 0.018 0 5 2 0 1 24.7 75066 chr11 106888596 106888596 G A GUCY1A2 Synonymous SNV T62T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.502 75067 chr2 219528776 219528776 G A rs753410912 RNF25 Synonymous SNV P428P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.434 75068 chr11 128355977 128355977 C T rs149636924 ETS1 Synonymous SNV S156S 0.006 0.018 0.003 3 7 7 0.008 1 0 0 0 0 Benign 19.81 75069 chr10 27688089 27688089 A G rs199572862 PTCHD3 Nonsynonymous SNV S480P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 75070 chrX 54044107 54044107 A C rs148215758 PHF8 Synonymous SNV V183V 0.029 0.031 0.048 12 34 12 0.031 14 7 3 5 4 Benign 0.275 75071 chr11 10875200 10875200 C T rs2232925 ZBED5 Synonymous SNV E431E 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 4.989 75072 chr11 10875701 10875701 A G rs2232922 ZBED5 Synonymous SNV V264V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.39 75073 chr11 10876100 10876100 C T rs2232921 ZBED5 Synonymous SNV Q131Q 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.207 75074 chr10 28345418 28345418 T C rs75802203 MPP7 Synonymous SNV K514K 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 2.862 75075 chr10 28347454 28347454 G C rs199919302 MPP7 Nonsynonymous SNV N459K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 75076 chr11 111156635 111156635 G A rs141303852 C11orf53 Synonymous SNV T241T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.964 75077 chr10 105201583 105201583 G C PDCD11 Nonsynonymous SNV E1520Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.51 75078 chr1 78408431 78408433 GGA - rs397517853 NEXN G586del 0.002 0 0 0 2 0 0 0 0 0 0 0 75079 chr10 105361898 105361898 G A rs778867319 SH3PXD2A Nonsynonymous SNV A907V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.017 75080 chrX 70889413 70889413 C T rs5937109 LOC101059915 Nonsynonymous SNV P414L 0.014 0.01 0 9 16 4 0.023 0 4 2 0 3 5.071 75081 chr2 220246709 220246709 G T rs35723758 DNPEP Synonymous SNV P335P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.207 75082 chr2 220250800 220250800 C T rs1132736 DNPEP Synonymous SNV L168L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.82 75083 chr2 220371028 220371028 G A rs568570865 GMPPA Nonsynonymous SNV R349H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 75084 chr10 106849560 106849560 G A rs141560719 SORCS3 Synonymous SNV A352A 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 Benign 15.68 75085 chr10 332279 332279 T G rs146938810 DIP2C Synonymous SNV P1351P 0.004 0.003 0.003 0 5 1 0 1 1 0 0 0 5.125 75086 chr1 86172032 86172032 G A rs41289759 ZNHIT6 Synonymous SNV P243P 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 7.059 75087 chrX 99661913 99661913 C T rs192354176 PCDH19 Synonymous SNV P561P 0.005 0 0 3 6 0 0.008 0 2 0 0 1 Conflicting interpretations of pathogenicity 11.68 75088 chr2 220417351 220417351 C G OBSL1 Nonsynonymous SNV E1739Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 75089 chr2 220417364 220417364 G T rs181520135 OBSL1 Nonsynonymous SNV D1734E 0.01 0.029 0.017 10 12 11 0.026 5 0 0 0 0 Benign 6.291 75090 chr1 86919135 86919135 G T rs748389664 CLCA2 Stop gain G747X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 75091 chr10 100147039 100147039 G C rs765428848 PYROXD2 Synonymous SNV A491A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.108 75092 chr1 86954700 86954700 A G rs138472865 CLCA1 Nonsynonymous SNV T402A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.09 75093 chr1 36932503 36932503 C T rs3918001 CSF3R Nonsynonymous SNV G683R 0.004 0.01 0.014 0 5 4 0 4 0 0 0 0 Benign 16.45 75094 chr11 117075048 117075048 C T rs11547377 TAGLN Synonymous SNV Y193Y 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 Benign 15.46 75095 chr11 117335686 117335686 G A rs61743159 DSCAML1 Synonymous SNV S1079S 0.014 0.005 0.01 4 16 2 0.01 3 0 0 0 0 14.08 75096 chr11 117234205 117234205 G A rs146501105 CEP164 Nonsynonymous SNV G250S 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign 13.22 75097 chr1 38444481 38444481 G A rs139660401 SF3A3 Synonymous SNV A229A 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 12.63 75098 chr10 55600246 55600246 G T rs111033363 PCDH15 Nonsynonymous SNV R1202S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 75099 chr2 228243910 228243910 G A rs144149499 TM4SF20 Synonymous SNV L25L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.593 75100 chr11 117979606 117979606 G C rs45441097 TMPRSS4 Nonsynonymous SNV C153S 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 26.1 75101 chr1 90470586 90470586 G C rs774099889 ZNF326 Nonsynonymous SNV G29A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 75102 chr10 102768235 102768235 G A rs772704936 PDZD7 Nonsynonymous SNV R1031C 0 0 0 1 0 0 0.003 0 0 0 0 0 7.654 75103 chr11 118764541 118764541 C T rs770005238 CXCR5 Synonymous SNV A51A 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 17.47 75104 chr2 231134273 231134273 A G rs781304390 SP140 Nonsynonymous SNV M309V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 75105 chr11 11906050 11906050 G C rs34511735 USP47 Nonsynonymous SNV D26H 0.022 0.026 0.02 4 26 10 0.01 6 0 0 0 0 27.4 75106 chr11 19077007 19077007 - T MRGPRX2 Frameshift insertion G315Rfs*43 0 0.003 0 0 0 1 0 0 0 0 0 0 75107 chr11 19854095 19854095 C T rs148087344 NAV2 Synonymous SNV L47L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.04 75108 chr2 232577525 232577525 C T rs200020726 PTMA Synonymous SNV V100V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 10.99 75109 chr1 42628581 42628581 C T rs139468524 GUCA2A Nonsynonymous SNV C115Y 0.016 0.018 0.003 4 19 7 0.01 1 0 0 0 0 25.5 75110 chr1 100176444 100176444 G T rs901523625 FRRS1 Synonymous SNV T514T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.153 75111 chr10 50820221 50820221 C A SLC18A3 Nonsynonymous SNV R479S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 75112 chr10 105922126 105922126 T G rs777363790 CFAP43 Nonsynonymous SNV K1094N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 75113 chr10 124597013 124597013 T C rs141623717 CUZD1 Nonsynonymous SNV N169S 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 17.24 75114 chr10 106058901 106058901 G T rs3758572 GSTO2 Synonymous SNV T135T 0.016 0.008 0.01 7 19 3 0.018 3 0 0 0 0 11.38 75115 chr2 234775941 234775941 A G rs213545 MSL3P1 0 0 0.34 0 0 0 0 100 0 0 37 0 0.094 75116 chr10 5141609 5141609 C T rs34186955 AKR1C3 Nonsynonymous SNV P180S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 23.3 75117 chr2 237395534 237395534 G A rs760883965 IQCA1 Nonsynonymous SNV R220C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 75118 chr10 126715766 126715766 C T rs139862028 CTBP2 Nonsynonymous SNV R188Q 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.17 75119 chr1 109737093 109737093 C G rs149034687 KIAA1324 Synonymous SNV T328T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.39 75120 chr10 128798495 128798495 C A rs61753108 DOCK1 Synonymous SNV R303R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16.71 75121 chr2 239007868 239007868 C T rs147342961 UBE2F-SCLY 0 0 0.01 0 0 0 0 3 0 0 0 0 5.013 75122 chr11 123813721 123813721 G A rs140666364 OR6T1 Synonymous SNV S275S 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 7.143 75123 chr10 71906005 71906005 A G rs145700158 TYSND1 Nonsynonymous SNV L113P 0.033 0.034 0.041 10 39 13 0.026 12 0 0 0 0 Benign 5.528 75124 chr11 281299 281299 C A NLRP6 Nonsynonymous SNV A522E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.551 75125 chr2 241389138 241389140 CCA - LOC100130449 0 0 0.003 0 0 0 0 1 0 0 0 0 75126 chr2 241395500 241395500 A G rs71428439 MIR149 0 0 0.058 0 0 0 0 17 0 0 0 0 3.434 75127 chr10 73051440 73051440 G A rs10509332 UNC5B Nonsynonymous SNV A505T 0.035 0.034 0.027 11 41 13 0.028 8 1 0 0 0 0.001 75128 chr2 241812438 241812438 C T rs373612587 AGXT Synonymous SNV G189G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.12 75129 chr2 241895302 241895302 G A rs563665047 CROCC2 Synonymous SNV R952R 0 0.008 0.003 0 0 3 0 1 0 0 0 0 1.851 75130 chr2 241922352 241922352 G T rs779605656 CROCC2 Nonsynonymous SNV G1486V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 75131 chr2 242004296 242004296 G A rs150081750 SNED1 Nonsynonymous SNV R879H 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 22.9 75132 chr10 134648268 134648268 G T rs150362711 CFAP46 Synonymous SNV G2252G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.123 75133 chr10 134726597 134726597 G A rs11146590 CFAP46 Synonymous SNV D762D 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 8.539 75134 chr2 242945610 242945742 ATGGGGACGTCTGCACTCACAGTGTCCTCGGCACTGCCCTCTGTAAATGGGGACGTCTGCACACACACTGTCCTCGGCACTGCCCTCTGTGGGGACGTCTGCACTCACAGAATGTCCTCGGCACTGCCCGTCC - LOC285097 0 0 0.146 0 0 0 0 43 0 0 14 0 75135 chr2 242946289 242946289 G A rs28590502 LOC285097 0 0 0.337 0 0 0 0 99 0 0 16 0 0.233 75136 chr2 242946515 242946515 C T rs79152248 LOC285097 0 0 0.007 0 0 0 0 2 0 0 0 0 6.749 75137 chr1 53554565 53554565 C T rs145514886 SLC1A7 Nonsynonymous SNV R411Q 0.012 0.016 0.01 6 14 6 0.015 3 1 0 0 0 18.85 75138 chr10 75532212 75532212 C A rs141139329 FUT11 Nonsynonymous SNV P41T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 75139 chr11 3688799 3688799 C T rs2231541 CHRNA10 Synonymous SNV P186P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 13.61 75140 chr11 3716782 3716782 C T rs144659895 NUP98 Nonsynonymous SNV R1308Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 75141 chr1 54371837 54371837 C T rs143295134 DIO1 Nonsynonymous SNV A136V 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 33 75142 chr1 54511349 54511349 C G rs55897033 TMEM59 Nonsynonymous SNV A136P 0.014 0.018 0.01 5 16 7 0.013 3 0 0 0 0 15.26 75143 chr10 15255292 15255292 G A rs3814168 FAM171A1 Synonymous SNV N765N 0.007 0.016 0.017 3 8 6 0.008 5 0 0 0 0 0.045 75144 chr10 79565480 79565480 C T DLG5 Nonsynonymous SNV G1703R 0.003 0 0 0 3 0 0 0 0 0 0 0 28.5 75145 chr11 4409599 4409599 G A rs5030770 TRIM21 Synonymous SNV S222S 0.011 0.013 0.017 8 13 5 0.021 5 0 0 0 0 6.481 75146 chr2 27664652 27664652 C G rs761556440 NRBP1 Nonsynonymous SNV N495K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 75147 chr11 126136169 126136169 C T rs115461150 SRPRA Nonsynonymous SNV R254Q 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 22.6 75148 chr1 120436819 120436819 T C ADAM30 Nonsynonymous SNV N714S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 75149 chr10 124909502 124909502 C A rs759207793 HMX2 Nonsynonymous SNV P229T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 75150 chr2 28464198 28464198 C T rs28997579 BABAM2 Synonymous SNV Y263Y 0.024 0.036 0.031 8 28 14 0.021 9 0 1 0 0 11.13 75151 chr10 18276505 18276505 G C rs780672265 SLC39A12 Nonsynonymous SNV R264S 0.003 0 0 0 4 0 0 0 0 0 0 0 4.612 75152 chr11 128359264 128359264 C A rs142099364 ETS1 Synonymous SNV L108L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.85 75153 chr10 19569100 19569100 G T rs75389448 MALRD1 Nonsynonymous SNV Q1068H 0.008 0.008 0.003 6 9 3 0.015 1 0 0 0 0 24 75154 chr1 144931581 144931581 C G rs2762744 PDE4DIP Nonsynonymous SNV R43P 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 15.46 75155 chr11 129991545 129991545 G A rs373359703 APLP2 Nonsynonymous SNV G185S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 75156 chr10 85970897 85970897 G A rs141787212 CDHR1 Synonymous SNV G487G 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.259 75157 chr1 145586672 145586676 TTTTA - rs201063949 NUDT17 C300Wfs*67 0.035 0.057 0.003 15 41 22 0.038 1 1 0 0 0 75158 chr2 29294239 29294239 G A rs144569618 PCARE Synonymous SNV S963S 0.014 0.016 0.007 6 16 6 0.015 2 0 0 0 0 Benign 8.641 75159 chr1 145586679 145586679 C - rs199513201 NUDT17 C300Vfs*32 0.035 0.057 0.003 15 41 22 0.038 1 1 0 0 0 75160 chr10 127697954 127697954 T G rs1666 FANK1 Nonsynonymous SNV L323V 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 15.23 75161 chr10 75415609 75415609 C T rs113166136 SYNPO2L Synonymous SNV G24G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.13 75162 chr2 29296144 29296145 TA - PCARE L328Rfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 75163 chr11 134147600 134147600 T C rs76849136 GLB1L3 Synonymous SNV N52N 0.015 0.018 0.017 7 18 7 0.018 5 0 0 0 0 0.02 75164 chr10 24813453 24813453 C T rs139472230 KIAA1217 Synonymous SNV H569H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.879 75165 chr10 129868684 129868684 C T rs141078040 PTPRE Synonymous SNV F201F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.69 75166 chr1 150933514 150933514 A T rs138864506 SETDB1 Nonsynonymous SNV E992D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.409 75167 chr2 31178841 31178841 C T rs138858567 GALNT14 Nonsynonymous SNV D157N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.9 75168 chr2 31215853 31215853 G A rs150086641 GALNT14 Synonymous SNV D50D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.98 75169 chr2 31360928 31360928 C G rs139115558 GALNT14 Nonsynonymous SNV V9L 0.005 0.01 0.01 3 6 4 0.008 3 0 0 0 0 21.4 75170 chr1 62582819 62582819 G A rs748419036 PATJ Nonsynonymous SNV V1607M 0.007 0.016 0 1 8 6 0.003 0 0 0 0 0 28.4 75171 chr10 27306678 27306678 C T rs146159734 ANKRD26 Nonsynonymous SNV C1419Y 0.013 0.016 0 3 15 6 0.008 0 0 0 0 0 Benign 1.946 75172 chr2 33172879 33172879 T C rs62135680 LTBP1 Nonsynonymous SNV L163P 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 26.8 75173 chr1 151260360 151260360 C T rs142842127 ZNF687 Synonymous SNV T531T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 10.29 75174 chr10 91099120 91099120 G T IFIT3 Nonsynonymous SNV K236N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.33 75175 chr1 151377422 151377422 A C rs142860188 POGZ Nonsynonymous SNV H1268Q 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 Likely benign 0.229 75176 chr10 132961454 132961454 C T rs118074196 TCERG1L Nonsynonymous SNV G322E 0.054 0.044 0.027 17 63 17 0.044 8 2 0 0 0 8.966 75177 chr11 17554805 17554805 T C rs75157409 USH1C Nonsynonymous SNV H34R 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 24.8 75178 chr11 17569485 17569485 G A rs77311172 OTOG Nonsynonymous SNV V36I 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 1.112 75179 chr11 17569523 17569523 C G rs58448442 OTOG Synonymous SNV A48A 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 3.933 75180 chr10 89622115 89622115 C G rs186106725 KLLN Nonsynonymous SNV G44R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 75181 chr1 152681796 152681805 GCAGTGGCCA - rs763134811 LCE4A G84Lfs*24 0.002 0.003 0 0 2 1 0 0 0 0 0 0 75182 chr10 134230570 134230570 C T rs184631562 PWWP2B Stop gain R498X 0 0 0.01 1 0 0 0.003 3 0 0 0 0 3.983 75183 chr10 96109888 96109888 C T rs149695235 NOC3L Nonsynonymous SNV M370I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.8 75184 chr2 42530331 42530331 C A rs35669886 EML4 Synonymous SNV R519R 0.002 0.01 0.02 2 2 4 0.005 6 0 0 0 0 19.91 75185 chr10 134736044 134736044 G A rs11146040 CFAP46 Synonymous SNV C475C 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 1 0.171 75186 chr11 18124837 18124837 C T rs34778091 SAAL1 Synonymous SNV E64E 0.003 0 0 0 4 0 0 0 0 0 0 0 10.45 75187 chr10 134738385 134738385 C G rs11146047 CFAP46 Nonsynonymous SNV Q357H 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 1 23.8 75188 chr10 98346527 98346527 C T TM9SF3 Synonymous SNV L22L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 75189 chr11 18333541 18333541 A G rs73432728 HPS5 Synonymous SNV L47L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 16.08 75190 chr10 93257873 93257873 C G rs61754653 HECTD2 Synonymous SNV A456A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.98 75191 chr10 93260363 93260363 C T rs34553731 HECTD2 Synonymous SNV D578D 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign 11.74 75192 chr10 35928633 35928633 G A rs61754569 FZD8 Synonymous SNV P575P 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 0.757 75193 chr11 18737002 18737002 C A rs3887899 IGSF22 Nonsynonymous SNV S503I 0.004 0 0 0 5 0 0 0 0 0 0 0 26.1 75194 chr10 38241220 38241220 T C rs146555827 ZNF25 Synonymous SNV E402E 0.008 0 0 0 9 0 0 0 0 0 0 0 0.255 75195 chr1 154744738 154744738 C A rs749900768 KCNN3 Synonymous SNV T387T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 75196 chr11 19955322 19955322 C T rs147604281 NAV2 Nonsynonymous SNV T447M 0.012 0.008 0.02 2 14 3 0.005 6 0 0 0 0 23 75197 chr10 96013948 96013948 G C rs61732523 PLCE1 Nonsynonymous SNV G786A 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 25.4 75198 chr10 99531570 99531570 - G SFRP5 Frameshift insertion V10Rfs*46 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 75199 chr10 96447567 96447567 G T CYP2C18 Nonsynonymous SNV G70V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 75200 chr2 54093325 54093325 C T PSME4 Synonymous SNV R1811R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 75201 chr2 54876237 54876237 C T rs759344159 SPTBN1 Synonymous SNV N1691N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 75202 chr11 20113866 20113866 A G rs140693573 NAV2 Nonsynonymous SNV M987V 0.01 0.005 0 0 12 2 0 0 0 0 0 0 0.004 75203 chr1 156084760 156084760 C T rs11549668 LMNA Synonymous SNV S17S 0.009 0.005 0.007 5 10 2 0.013 2 0 0 0 0 Benign/Likely benign 9.88 75204 chr10 98084110 98084110 G C rs41291616 DNTT Nonsynonymous SNV D280H 0.012 0.008 0.02 3 14 3 0.008 6 0 0 0 0 Likely benign 14.3 75205 chr2 61447490 61447490 C T rs1043218217 USP34 Nonsynonymous SNV V2668I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 75206 chr10 18823090 18823090 T C rs151199943 CACNB2 Synonymous SNV H325H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 4.003 75207 chr10 18837090 18837090 T C rs199907479 NSUN6 Nonsynonymous SNV Q242R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28 75208 chr10 19454665 19454665 T G rs182825388 MALRD1 Nonsynonymous SNV F586V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 5.6 75209 chr2 64124722 64124722 C A rs11558741 VPS54 Nonsynonymous SNV M900I 0.115 0.128 0.167 49 135 49 0.126 49 13 6 6 7 23.2 75210 chr10 49420096 49420096 G A rs116034209 FRMPD2 Synonymous SNV I479I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 75211 chr10 19820233 19820233 C T rs572411579 MALRD1 Nonsynonymous SNV R1811W 0 0 0.003 2 0 0 0.005 1 0 0 0 0 33 75212 chr10 99969650 99969650 A G rs115833071 R3HCC1L Synonymous SNV L593L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.924 75213 chr10 21806333 21806333 C A rs564569965 SKIDA1 Nonsynonymous SNV R140L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22.8 75214 chr1 156878044 156878044 G A rs147639000 PEAR1 Nonsynonymous SNV D343N 0.02 0.023 0.027 1 24 9 0.003 8 0 0 0 0 19.76 75215 chr11 1016708 1016708 C T MUC6 Synonymous SNV Q2031Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.01 75216 chr2 69769767 69769767 C T rs773204637 AAK1 Nonsynonymous SNV R141H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 75217 chr2 70190288 70190288 C T rs34641834 PCBP1-AS1 0 0 0.051 0 0 0 0 15 0 0 0 0 10.95 75218 chr1 157069261 157069261 A C rs16838078 ETV3L Nonsynonymous SNV S19A 0.04 0.042 0.041 10 47 16 0.026 12 1 0 0 0 2.997 75219 chr2 73315604 73315604 C T rs199517071 RAB11FIP5 Nonsynonymous SNV R381H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.03 75220 chr2 73455600 73455600 C T rs11559241 PRADC1 Synonymous SNV P183P 0.003 0.003 0.024 7 4 1 0.018 7 0 0 0 0 12.65 75221 chr10 29747261 29747261 A G rs200364353 SVIL Nonsynonymous SNV F1761S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.676 75222 chr11 34219045 34219045 A G rs138327386 ABTB2 Synonymous SNV R357R 0.007 0.005 0 10 8 2 0.026 0 0 0 0 0 6.555 75223 chr11 33596277 33596277 G A rs139772715 KIAA1549L Synonymous SNV P1420P 0.005 0.01 0.003 7 6 4 0.018 1 0 0 0 0 12.34 75224 chr2 74328031 74328031 C T rs190314140 TET3 Synonymous SNV A1279A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.662 75225 chr1 160011231 160011231 T C rs145588542 KCNJ10 Synonymous SNV Q364Q 0.016 0.005 0.007 5 19 2 0.013 2 1 0 0 0 Benign/Likely benign 0.003 75226 chr2 79364463 79364463 C T rs879022 REG1CP 0 0 0.031 0 0 0 0 9 0 0 0 0 6.752 75227 chr2 79365249 79365249 C T rs72816650 REG1CP 0 0 0.054 0 0 0 0 16 0 0 1 0 4.482 75228 chr11 35747665 35747665 A G rs61758104 TRIM44 Nonsynonymous SNV K314R 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 Benign 15.79 75229 chr10 61832127 61832127 T C rs200218631 ANK3 Nonsynonymous SNV T2838A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.345 75230 chr11 36595157 36595157 G A rs4151025 RAG1 Synonymous SNV A101A 0.041 0.044 0.037 19 48 17 0.049 11 1 2 0 0 Benign 0.035 75231 chr11 3681251 3681251 G A rs746683411 ART1 Nonsynonymous SNV G168S 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 0.002 75232 chr11 102643657 102643657 T C rs372673583 MMP10 Nonsynonymous SNV T383A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.118 75233 chr2 85836658 85836658 C A C2orf68 Nonsynonymous SNV S93I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 75234 chr2 85843543 85843543 G A USP39 Synonymous SNV E75E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 75235 chr10 43292675 43292675 G A rs142050206 BMS1 Synonymous SNV T661T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 7.587 75236 chr10 69908113 69908113 C T rs145701607 MYPN Synonymous SNV I378I 0.022 0.005 0.003 8 26 2 0.021 1 0 0 0 0 Benign/Likely benign 16.18 75237 chr2 86305405 86305405 T C rs201760128 POLR1A Synonymous SNV E363E 0.004 0.005 0.003 7 5 2 0.018 1 0 0 0 0 Likely benign 10.54 75238 chr11 103024116 103024116 C G rs200466720 DYNC2H1 Nonsynonymous SNV L1061V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 75239 chr11 3723941 3723941 C T rs35488940 NUP98 Synonymous SNV P1041P 0.032 0.029 0.031 11 37 11 0.028 9 2 0 1 0 13.53 75240 chr11 3741972 3741972 T C rs200120984 NUP98 Nonsynonymous SNV I697V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 10.95 75241 chr2 88825965 88825965 G A rs35750657 TEX37 Nonsynonymous SNV D24N 0.009 0.01 0.014 9 11 4 0.023 4 0 0 0 0 23.1 75242 chr11 4510613 4510613 C A rs765180018 OR52K1 Synonymous SNV L161L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.588 75243 chr2 96049752 96049752 T C rs748480190 KCNIP3 Synonymous SNV D216D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.835 75244 chr11 102589286 102589288 CAA - rs755937387 MMP8 V214del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 75245 chr2 99993019 99993019 A G rs111801819 EIF5B Nonsynonymous SNV S588G 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 1 Benign 23.2 75246 chr11 4567153 4567153 G A rs375588754 OR52M1 Nonsynonymous SNV A245T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 9.171 75247 chr3 101370529 101370529 - A rs398052154 ZBTB11 0.014 0 0.048 10 16 0 0.026 14 1 0 0 0 75248 chr3 101431342 101431342 G A rs2317940 PDCL3P4 0 0 0.017 0 0 0 0 5 0 0 0 0 7.107 75249 chr3 101431357 101431357 A - rs200957518 PDCL3P4 0 0 0.02 0 0 0 0 6 0 0 0 0 75250 chr11 108204668 108204668 T C rs143972422 ATM Synonymous SNV D2661D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 6.492 75251 chr11 103022933 103022933 A G rs201310509 DYNC2H1 Synonymous SNV L1005L 0.008 0.016 0 6 9 6 0.015 0 0 0 0 0 Benign/Likely benign 3.691 75252 chr10 48438432 48438432 C T rs200131733 GDF10 Synonymous SNV P93P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.22 75253 chr3 101431590 101431590 T G rs4060654 PDCL3P4 0 0 0.02 0 0 0 0 6 0 0 0 0 7.792 75254 chr3 101431646 101431646 T C rs3968286 PDCL3P4 0.001 0 0.01 0 1 0 0 3 0 0 0 0 7.335 75255 chr11 103036734 103036734 A G rs201016942 DYNC2H1 Synonymous SNV Q1573Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.012 75256 chr3 10183714 10183714 C G rs63650860 VHL Synonymous SNV P61P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.375 75257 chr11 46407948 46407948 T A CHRM4 Nonsynonymous SNV M54L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.33 75258 chr11 46702070 46702070 G A rs144801476 ARHGAP1 Nonsynonymous SNV L263F 0.006 0.013 0.003 4 7 5 0.01 1 0 0 0 0 Benign 23.3 75259 chr11 46747662 46747662 C T rs5899 F2 Synonymous SNV G271G 0.011 0.016 0.003 6 13 6 0.015 1 0 1 0 0 Conflicting interpretations of pathogenicity 14.14 75260 chr11 47264353 47264353 G C rs117138208 ACP2 Nonsynonymous SNV D290E 0.01 0.016 0.01 2 12 6 0.005 3 0 0 0 0 3.459 75261 chr11 10647737 10647737 G A rs749817197 MRVI1 Nonsynonymous SNV P67S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.004 75262 chr11 106681130 106681130 C T rs147703493 GUCY1A2 Synonymous SNV V427V 0.009 0.018 0.003 4 11 7 0.01 1 0 0 0 0 10.89 75263 chr11 47593180 47593180 G C rs190036505 PTPMT1 X202S 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 Benign 7.822 75264 chr1 173879976 173879976 G A rs2227627 SERPINC1 Synonymous SNV T226T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 14 75265 chr10 73567091 73567091 C G CDH23 Nonsynonymous SNV L506V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.666 75266 chr10 50854637 50854637 G A rs8178991 CHAT Nonsynonymous SNV D282N 0.012 0 0.003 2 14 0 0.005 1 0 0 0 0 Benign/Likely benign 23.8 75267 chr1 175299249 175299249 G A rs35421365 TNR Synonymous SNV L919L 0.007 0.013 0.003 1 8 5 0.003 1 0 0 0 0 Benign 0.547 75268 chr11 108381644 108381644 T C rs79942405 EXPH5 Synonymous SNV L1342L 0.029 0.013 0.044 9 34 5 0.023 13 1 0 1 0 0.015 75269 chr3 112357999 112357999 C T rs775543007 CCDC80 Nonsynonymous SNV V252I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 75270 chr11 48285483 48285483 T G OR4X1 Nonsynonymous SNV V24G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.43 75271 chr3 11301440 11301440 G A rs200397784 HRH1 Synonymous SNV L239L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.778 75272 chr11 1097259 1097259 C T rs377644415 MUC2 Synonymous SNV Y2225Y 0.003 0 0 0 3 0 0 0 0 0 0 0 10.37 75273 chr10 8115908 8115908 G A rs11567941 GATA3 Synonymous SNV T419T 0.052 0.029 0.044 17 61 11 0.044 13 1 0 0 0 Benign 12.04 75274 chr1 117122288 117122288 - TCCTCC rs781349066 IGSF3 E1019_D1020insEE 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 75275 chr11 111796717 111796717 G T rs115724940 C11orf52 Nonsynonymous SNV V56L 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 23 75276 chr11 114450964 114450964 C T rs376776586 NXPE4 Nonsynonymous SNV C330Y 0.003 0.01 0 0 3 4 0 0 0 0 0 0 31 75277 chr10 5781800 5781800 A T rs61731327 TASOR2 Nonsynonymous SNV N475I 0.01 0.018 0.007 8 12 7 0.021 2 0 0 0 0 0.318 75278 chr11 115085401 115085401 A G rs139604912 CADM1 Synonymous SNV D307D 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Benign 7.765 75279 chr1 117568500 117568500 G A rs12093834 CD101 Nonsynonymous SNV R933Q 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 Benign 6.085 75280 chr1 117568614 117568614 - CTT rs141169705 LOC101929099 0.012 0.01 0.01 0 14 4 0 3 0 0 0 0 75281 chr1 118008958 118008958 T G rs34355735 MAN1A2 Synonymous SNV V359V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Benign 12.49 75282 chr1 118035782 118035782 C T rs115084439 MAN1A2 Synonymous SNV V394V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 12.28 75283 chr1 118567963 118567963 A G rs967834525 SPAG17 Synonymous SNV Y1269Y 0.005 0.005 0 0 6 2 0 0 0 0 0 0 3.558 75284 chr1 120284469 120284469 G A rs144484007 PHGDH Synonymous SNV A386A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Uncertain significance 12.49 75285 chr11 117857203 117857203 G C rs4252301 IL10RA Synonymous SNV V7V 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign 3.898 75286 chr3 120428634 120428634 G A rs35389318 RABL3 Synonymous SNV S87S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.98 75287 chr11 113678801 113678801 A C rs553749430 USP28 Nonsynonymous SNV S455A 0.005 0.005 0 0 6 2 0 0 0 0 0 0 18.63 75288 chr11 118895782 118895782 G A rs200713586 SLC37A4 Synonymous SNV G376G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 13.19 75289 chr1 145439524 145439524 C G rs782680924 TXNIP Nonsynonymous SNV S6C 0.006 0.005 0 0 7 2 0 0 0 0 0 0 5.161 75290 chr1 184006380 184006380 C T rs150084895 COLGALT2 Nonsynonymous SNV D38N 0.011 0.013 0.003 8 13 5 0.021 1 0 0 0 0 23.3 75291 chr11 48387712 48387712 C A rs776931337 OR4C5 Nonsynonymous SNV M102I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 75292 chr1 147230978 147230978 G A rs2232191 GJA5 Synonymous SNV Y123Y 0.013 0.013 0.01 3 15 5 0.008 3 0 0 0 0 Benign/Likely benign 0.01 75293 chr10 93786394 93786394 C T rs148131738 BTAF1 Synonymous SNV H1707H 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 14 75294 chr1 186327773 186327773 G T rs114751429 TPR Synonymous SNV R467R 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 Benign 13.46 75295 chr11 117789318 117789319 GG - rs746022626 TMPRSS13 P86Sfs*37 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 75296 chr11 117789321 117789333 GATGCCTGGGCTG - rs775674859 TMPRSS13 P81Lfs*28 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 75297 chr3 122422748 122422748 A G rs74759699 PARP14 Nonsynonymous SNV S1081G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.045 75298 chr10 94822504 94822504 G A CYP26C1 Nonsynonymous SNV A153T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 32 75299 chr1 196952092 196952092 C T rs12097550 CFHR5 Nonsynonymous SNV P46S 0.013 0.021 0.007 5 15 8 0.013 2 0 0 0 0 Benign/Likely benign 0.135 75300 chr11 118390324 118390326 TTC - rs369393980 LOC101929089 0.003 0 0.003 0 3 0 0 1 0 0 0 0 75301 chr11 118769589 118769589 G A rs138738007 BCL9L Synonymous SNV S1345S 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 Benign 10.85 75302 chr10 71905472 71905472 C A rs147890007 TYSND1 Nonsynonymous SNV V291L 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 18.83 75303 chr11 4945038 4945038 G A OR51G1 Nonsynonymous SNV H178Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 75304 chr3 124492734 124492734 T C rs16835978 ITGB5 Synonymous SNV E420E 0.032 0.034 0.031 13 38 13 0.033 9 0 0 0 0 6.975 75305 chr10 71905735 71905735 G A rs11549689 TYSND1 Nonsynonymous SNV P203L 0.01 0.013 0.014 12 12 5 0.031 4 0 0 0 1 12.13 75306 chr10 71906010 71906010 C G rs11549688 TYSND1 Synonymous SNV A111A 0.009 0.013 0.014 10 11 5 0.026 4 0 0 0 1 9.15 75307 chr10 72014967 72014967 G T rs113487866 NPFFR1 Nonsynonymous SNV R347S 0.009 0.013 0.014 12 11 5 0.031 4 0 0 0 1 12.7 75308 chr11 119020719 119020719 C T rs113286118 ABCG4 Nonsynonymous SNV P15L 0.009 0.018 0.003 3 10 7 0.008 1 0 0 0 0 29.6 75309 chr1 201176267 201176267 - T rs769388792 IGFN1 Stop gain E750* 0.001 0 0 1 1 0 0.003 0 0 0 0 0 75310 chr11 57428578 57428578 C T rs145579673 CLP1 Synonymous SNV A252A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.82 75311 chr1 201178866 201178866 A G rs111738288 IGFN1 Synonymous SNV G1615G 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.387 75312 chr1 201178904 201178904 A G rs201227267 IGFN1 Nonsynonymous SNV E1628G 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.046 75313 chr1 201178924 201178924 A G rs6678538 IGFN1 Nonsynonymous SNV K1635E 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.003 75314 chr1 201178926 201178926 G A rs6702960 IGFN1 Synonymous SNV K1635K 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 3.684 75315 chr1 201754444 201754444 G C rs16849342 NAV1 Nonsynonymous SNV Q546H 0.014 0.021 0.024 8 17 8 0.021 7 0 0 1 0 22.4 75316 chr11 123624902 123624902 C T rs573024245 OR6X1 Nonsynonymous SNV E109K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 75317 chr11 124135506 124135506 C T rs763462007 OR8G5 Nonsynonymous SNV R262C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.59 75318 chr11 55321978 55321978 C T rs144102032 OR4C15 Nonsynonymous SNV L12F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.99 75319 chr11 124619746 124619746 G C VSIG2 Synonymous SNV P148P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.202 75320 chr11 124739924 124739924 G C rs115272137 ROBO3 Synonymous SNV A242A 0.01 0.008 0.017 2 12 3 0.005 5 0 0 0 0 Benign 11.95 75321 chr11 124743284 124743284 C T rs139930558 ROBO3 Nonsynonymous SNV R539W 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 Benign 25.3 75322 chr1 155223424 155223424 C A FAM189B Nonsynonymous SNV V109L 0.009 0.005 0 0 10 2 0 0 0 0 0 0 12.52 75323 chr11 59283207 59283207 C T rs138100520 OR4D9 Synonymous SNV T274T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 75324 chr11 125488443 125488443 T G STT3A Synonymous SNV V558V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 12.04 75325 chr11 125488444 125488444 T G STT3A Nonsynonymous SNV Y559D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.7 75326 chr11 125495761 125495761 C A rs1031346569 CHEK1 Synonymous SNV R36R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.775 75327 chr11 55339801 55339801 A G rs145669236 OR4C16 Synonymous SNV L66L 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 0.855 75328 chr11 124670383 124670383 C G rs114076082 LOC100507283 0.007 0.008 0.048 2 8 3 0.005 14 1 1 0 0 1.709 75329 chr11 124767635 124767635 G A ROBO4 Synonymous SNV L19L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.713 75330 chr11 60497145 60497145 T G rs117250730 MS4A18 Nonsynonymous SNV N119K 0.057 0.036 0.027 23 67 14 0.059 8 1 0 0 0 11.32 75331 chr11 124857757 124857757 T C rs61912661 CCDC15 Synonymous SNV H545H 0.009 0.008 0.017 2 11 3 0.005 5 0 0 0 0 0.044 75332 chr3 141326602 141326602 T C rs295322 RASA2 Synonymous SNV N673N 0.027 0.044 0.058 6 32 17 0.015 17 1 2 0 1 Benign 10.15 75333 chr1 207112588 207112588 C T rs750352182 PIGR Synonymous SNV P88P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.3 75334 chr1 207223061 207223061 C T rs370466943 YOD1 Nonsynonymous SNV M117I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 75335 chr11 61018643 61018643 G C rs17595 PGA5 Nonsynonymous SNV V353L 0.01 0.031 0.01 5 12 12 0.013 3 0 0 0 0 0.005 75336 chr11 61290739 61290739 G A rs759041073 SYT7 Synonymous SNV Y401Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.827 75337 chr1 158263029 158263029 C T rs763179021 CD1C Nonsynonymous SNV A306V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.659 75338 chr3 148712035 148712035 C T rs61733452 GYG1 Synonymous SNV L38L 0 0.003 0.014 0 0 1 0 4 0 0 0 0 Benign 12.84 75339 chr11 102201850 102201850 G A rs17881197 BIRC3 Nonsynonymous SNV R401K 0.014 0.013 0.003 6 16 5 0.015 1 0 0 0 0 Likely benign 17.72 75340 chr3 148768130 148768130 T C rs16861365 HLTF Synonymous SNV V501V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 3.513 75341 chr1 210415570 210415570 C T rs138733991 SERTAD4 Nonsynonymous SNV T320I 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 17.88 75342 chr11 102563695 102563695 C T rs775876464 MMP27 Nonsynonymous SNV R424H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 75343 chr11 134183850 134183850 T C rs11606923 GLB1L3 Nonsynonymous SNV V532A 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 23.3 75344 chr11 61727438 61727438 C T rs1801390 BEST1 Nonsynonymous SNV P409L 0.011 0.013 0.024 9 13 5 0.023 7 0 0 0 0 Benign 6.487 75345 chr3 150384657 150384657 G A rs114572143 ERICH6 Nonsynonymous SNV R403C 0.011 0.013 0.007 3 13 5 0.008 2 0 0 0 0 34 75346 chr1 158517891 158517891 G A rs79396176 OR6Y1 Nonsynonymous SNV T2I 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 0.006 75347 chr1 212799039 212799039 G A rs74138590 FAM71A Nonsynonymous SNV G274R 0.019 0.023 0.017 12 22 9 0.031 5 0 0 0 0 4.276 75348 chr1 212799163 212799163 C A rs74138591 FAM71A Nonsynonymous SNV A315E 0.019 0.023 0.017 12 22 9 0.031 5 0 0 0 0 0.26 75349 chr1 214576241 214576241 T C rs55801232 PTPN14 Nonsynonymous SNV E189G 0.023 0.016 0.02 3 27 6 0.008 6 1 0 0 0 24.6 75350 chr3 15276562 15276562 G A rs35189473 CAPN7 Synonymous SNV A439A 0.008 0.021 0.034 6 9 8 0.015 10 0 0 0 0 15.37 75351 chr10 99216568 99216568 C T ZDHHC16 Nonsynonymous SNV H282Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 75352 chr11 1311541 1311541 G A rs141565986 TOLLIP Synonymous SNV G44G 0.005 0 0 2 6 0 0.005 0 0 0 0 0 5.058 75353 chr3 154138978 154138978 C T rs115604788 GPR149 Synonymous SNV A491A 0.016 0.01 0.017 8 19 4 0.021 5 1 0 0 0 13.28 75354 chr11 62373654 62373654 G A rs140559608 EML3 Nonsynonymous SNV H514Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 75355 chr3 156745972 156745972 T C rs374309390 LEKR1 Synonymous SNV H483H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 75356 chr11 62398274 62398274 G A rs113677430 GANAB Synonymous SNV G281G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 10.57 75357 chr3 157318084 157318084 A G rs201014418 SLC66A1L Nonsynonymous SNV I106V 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 0.005 75358 chr11 17485141 17485141 C T rs116132921 ABCC8 Synonymous SNV V141V 0.002 0 0 6 2 0 0.015 0 0 0 0 0 Benign/Likely benign 6.031 75359 chr11 62559438 62559438 G A rs200223907 TMEM223 Nonsynonymous SNV T10M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.196 75360 chr11 17581152 17581152 C T rs199968574 OTOG Nonsynonymous SNV R441W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 33 75361 chr11 17596273 17596273 C T rs751618218 OTOG Nonsynonymous SNV S779F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.1 75362 chr11 1079746 1079746 C T rs41359951 MUC2 Synonymous SNV C321C 0.016 0.013 0.02 13 19 5 0.033 6 0 0 0 1 15.69 75363 chr3 160167614 160167614 G A rs180778342 TRIM59-IFT80 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 9.387 75364 chr11 1080881 1080883 ACA - rs201057210 MUC2 N423del 0.018 0.013 0.024 14 21 5 0.036 7 0 0 0 1 75365 chr11 1858041 1858041 G A rs149838879 SYT8 Nonsynonymous SNV R262Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 75366 chr11 1769227 1769227 C T rs143108004 IFITM10 Synonymous SNV S69S 0.012 0.005 0.01 2 14 2 0.005 3 0 0 0 0 15.31 75367 chr11 18359786 18359786 C T rs960677400 GTF2H1 Nonsynonymous SNV H160Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.18 75368 chr3 169497112 169497112 T A rs199911803 MYNN Nonsynonymous SNV S275T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 75369 chr3 169664032 169664032 G A rs73042022 LOC100128164 0 0 0.034 0 0 0 0 10 0 0 1 0 10.06 75370 chr3 17109455 17109455 A G rs762617543 PLCL2 Synonymous SNV E908E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 75371 chr3 171455701 171455701 G A rs146060699 PLD1 Synonymous SNV S47S 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 Benign 3.986 75372 chr1 162482366 162482366 G C rs138791425 UHMK1 Nonsynonymous SNV A235P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26 75373 chr11 64453180 64453180 C T rs146308270 NRXN2 Nonsynonymous SNV V340I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.7 75374 chr1 169349823 169349823 G A rs113548186 BLZF1 Nonsynonymous SNV R258H 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 26.2 75375 chr3 180426426 180426426 A G rs116231465 LOC101928882 0 0 0.007 0 0 0 0 2 0 0 0 0 6.499 75376 chr1 169446561 169446561 C T rs137970656 SLC19A2 Synonymous SNV K213K 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.21 75377 chr1 227170603 227170603 C T rs55637780 COQ8A Synonymous SNV L316L 0.004 0.003 0.017 3 5 1 0.008 5 0 0 0 0 Benign 5.516 75378 chr11 2417893 2417893 C T rs14077 CD81 Synonymous SNV S128S 0.021 0.016 0.017 14 25 6 0.036 5 0 0 0 0 Benign 19.12 75379 chr11 2417935 2417935 T C rs2229751 CD81 Synonymous SNV A142A 0.022 0.021 0.017 14 26 8 0.036 5 0 0 0 0 5.64 75380 chr11 2424647 2424647 G A rs2234281 TSSC4 Nonsynonymous SNV G262R 0.014 0.013 0.01 5 16 5 0.013 3 0 0 0 0 0.597 75381 chr11 57480118 57480118 C G TMX2 Nonsynonymous SNV L10V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.82 75382 chr1 171303818 171303818 G C rs147618632 FMO4 Nonsynonymous SNV A366P 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 27.5 75383 chr11 2427989 2427989 G A rs762301888 TRPM5 Synonymous SNV V1051V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.139 75384 chr11 27362257 27362257 T C rs80317617 CCDC34 Nonsynonymous SNV N298S 0.02 0.008 0.024 5 24 3 0.013 7 0 0 0 0 12.22 75385 chr11 27384585 27384585 G A rs11549824 CCDC34 Nonsynonymous SNV P53S 0.02 0.008 0.027 5 24 3 0.013 8 0 0 0 0 5.47 75386 chr3 187009156 187009156 G A LOC101929130 0 0 0.003 0 0 0 0 1 0 0 0 0 3.274 75387 chr11 118399392 118399392 G A rs118041771 TTC36 Nonsynonymous SNV G65R 0.011 0.01 0.01 3 13 4 0.008 3 0 0 0 0 25.6 75388 chr3 187897954 187897954 T A rs2127519 FLJ42393 0 0 0.34 0 0 0 0 100 0 0 32 0 7.091 75389 chr11 118959811 118959811 G C rs768805105 HMBS Synonymous SNV G60G 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 9.541 75390 chr11 65688885 65688885 C A rs371695352 DRAP1 Nonsynonymous SNV D199E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.237 75391 chr11 27680107 27680107 G A rs8192466 BDNF Nonsynonymous SNV T2I 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Uncertain significance 23.5 75392 chr11 119181160 119181160 G A rs748503572 MCAM Nonsynonymous SNV R604C 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 34 75393 chr11 6584666 6584666 G C rs201817383 DNHD1 Nonsynonymous SNV E3242Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 75394 chr1 179077111 179077111 G A rs184267733 ABL2 Synonymous SNV S1076S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 4.226 75395 chr11 11959897 11959897 A G USP47 Nonsynonymous SNV E550G 0.002 0 0 0 2 0 0 0 0 0 0 0 31 75396 chr1 231829700 231829700 C T rs147261047 DISC1 Nonsynonymous SNV R66W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 12.22 75397 chr11 120744897 120744897 C T rs117994876 GRIK4 Synonymous SNV H343H 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign 15.3 75398 chr11 10515022 10515022 C T rs149809940 AMPD3 Nonsynonymous SNV R197W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 30 75399 chr11 32657276 32657276 T G rs770851614 CCDC73 Nonsynonymous SNV N384T 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 0.107 75400 chr11 33106774 33106774 G A rs200568543 CSTF3 Synonymous SNV N671N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.622 75401 chr11 5922983 5922983 G A OR52E5 Nonsynonymous SNV R330K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 4.315 75402 chr11 32955174 32955174 T C rs1036191131 QSER1 Synonymous SNV T790T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.041 75403 chr11 121444958 121444958 A G rs62617129 SORL1 Nonsynonymous SNV I1116V 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 0.047 75404 chr1 234546246 234546246 G A rs188908188 TARBP1 Nonsynonymous SNV T1246M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 75405 chr3 194373736 194373736 T C rs151257941 LSG1 Nonsynonymous SNV T299A 0.005 0 0.02 2 6 0 0.005 6 0 0 0 0 0.001 75406 chr11 6007271 6007271 C T rs186343423 OR52L1 Stop gain W297X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 75407 chr3 194386360 194386360 T C rs139763477 LSG1 Synonymous SNV E149E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.587 75408 chr11 67069008 67069008 C T rs750976132 ANKRD13D Synonymous SNV N466N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 75409 chr11 34165053 34165053 G A rs36006049 NAT10 Nonsynonymous SNV A911T 0.014 0.023 0.003 3 17 9 0.008 1 0 0 0 0 Benign 22.4 75410 chr11 123864948 123864948 G A rs17128086 OR10G6 Synonymous SNV I307I 0.042 0.047 0 25 49 18 0.064 0 2 0 0 2 7.57 75411 chr1 182617348 182617348 G A rs34360993 RGS8 Nonsynonymous SNV T95I 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 14.01 75412 chr1 236721780 236721780 C T rs16833884 HEATR1 Nonsynonymous SNV R1654H 0.006 0.005 0.003 6 7 2 0.015 1 0 0 0 0 13.83 75413 chr1 183515428 183515428 G A rs2298083 SMG7 Nonsynonymous SNV V858I 0.066 0.07 0.071 20 77 27 0.051 21 3 2 0 0 17.21 75414 chr11 112070443 112070443 G A rs202172820 BCO2 Nonsynonymous SNV R180Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 75415 chr11 375701 375701 G A rs118028728 B4GALNT4 Nonsynonymous SNV G305R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.239 75416 chr11 123901175 123901175 C A rs11825515 OR10G8 Synonymous SNV L282L 0.026 0.034 0.031 23 31 13 0.059 9 1 0 0 2 10.33 75417 chr11 123909671 123909671 G A rs11827843 OR10G7 Nonsynonymous SNV T13M 0.016 0.018 0.014 15 19 7 0.038 4 1 0 0 2 0.107 75418 chr1 183617288 183617288 A G rs147640407 APOBEC4 Nonsynonymous SNV V210A 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.002 75419 chr11 396674 396674 G A rs150738891 PKP3 Nonsynonymous SNV G100E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.44 75420 chr11 113283488 113283488 G A rs1800496 DRD2 Nonsynonymous SNV P281S 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 9.477 75421 chr3 197020780 197020780 - A rs3836429 MIR4797 0 0 0.33 0 0 0 0 97 0 0 34 0 75422 chr11 4080616 4080616 G A rs142843376 STIM1 Synonymous SNV G201G 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 11.12 75423 chr3 197518174 197518174 G A LRCH3 Nonsynonymous SNV V9M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 75424 chr11 68853159 68853159 C T rs200514919 TPCN2 Nonsynonymous SNV S620L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 75425 chr1 240656348 240656348 G A rs200402727 GREM2 Nonsynonymous SNV P143L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 75426 chr11 433393 433393 G A rs148031221 ANO9 Nonsynonymous SNV R91C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 75427 chr11 124908448 124908448 C A rs200602096 CCDC15 Nonsynonymous SNV Q845K 0.009 0 0 2 11 0 0.005 0 0 0 0 0 13.78 75428 chr3 20181809 20181809 C T rs116196143 KAT2B Nonsynonymous SNV R653W 0.014 0.021 0.024 5 17 8 0.013 7 0 0 0 0 27.6 75429 chr11 114182830 114182830 T C rs11569687 NNMT Synonymous SNV D142D 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 0.296 75430 chr11 1251301 1251301 C T rs2672810 MUC5B Synonymous SNV G429G 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 12.81 75431 chr11 1253309 1253309 G A rs779993786 MUC5B Nonsynonymous SNV A588T 0.003 0 0 0 3 0 0 0 0 0 0 0 19.9 75432 chr3 25835860 25835860 G C rs151328335 OXSM Nonsynonymous SNV E419Q 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 18.27 75433 chr11 61665773 61665773 C T rs372306821 RAB3IL1 Nonsynonymous SNV G350S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 35 75434 chr11 44639801 44639801 C T rs139816598 CD82 Synonymous SNV C151C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.19 75435 chr11 46388011 46388011 G T rs901998 DGKZ Nonsynonymous SNV G69C 0.008 0.013 0 5 9 5 0.013 0 0 0 0 0 5.714 75436 chr11 117100108 117100108 C T rs374712041 PCSK7 Synonymous SNV P151P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.57 75437 chr11 62285730 62285730 C T rs765927091 AHNAK Nonsynonymous SNV V5387I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.4 75438 chr11 46388112 46388112 G C rs764155955 DGKZ Nonsynonymous SNV Q102H 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 0.098 75439 chr11 46395998 46395998 C T rs33968054 DGKZ Synonymous SNV Y462Y 0.008 0.013 0.003 5 9 5 0.013 1 0 0 0 0 Benign 13.84 75440 chr1 200842951 200842951 C T GPR25 Synonymous SNV A262A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.78 75441 chr11 62293925 62293925 C A rs149615783 AHNAK Nonsynonymous SNV G2655V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 26.5 75442 chr11 46722685 46722685 G C rs111794632 ZNF408 Nonsynonymous SNV G8R 0.008 0.013 0 5 9 5 0.013 0 0 0 0 0 2.612 75443 chr11 6232850 6232850 G C rs540613056 FAM160A2 Synonymous SNV L935L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.606 75444 chr11 46832716 46832716 G A rs149162293 CKAP5 Synonymous SNV S157S 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 12.28 75445 chr11 46332586 46332586 A T rs187725533 CREB3L1 Nonsynonymous SNV D200V 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 Likely benign 26.9 75446 chr11 47178670 47178670 G A rs141798325 C11orf49 Nonsynonymous SNV R174H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 26.6 75447 chr11 73679454 73679454 G A rs147921001 DNAJB13 Nonsynonymous SNV R224H 0.014 0.003 0.014 2 17 1 0.005 4 0 0 0 0 Likely benign 25.2 75448 chr11 73768459 73768459 C A rs142214951 C2CD3 Nonsynonymous SNV Q1694H 0.01 0.003 0.01 2 12 1 0.005 3 0 0 0 0 Likely benign 14.06 75449 chr11 47259417 47259417 T C rs61741581 DDB2 Synonymous SNV I162I 0.007 0.013 0 6 8 5 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.403 75450 chr11 1262499 1262499 C T rs139153751 MUC5B Synonymous SNV T1463T 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 Benign 12.58 75451 chr11 46911655 46911655 G A rs1011484252 LRP4 Synonymous SNV F644F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 75452 chr11 1263757 1263757 A G rs78692183 MUC5B Nonsynonymous SNV S1883G 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 8.97 75453 chr11 1271625 1271625 T C rs4046526 MUC5B Synonymous SNV T4505T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.013 75454 chr11 1271691 1271691 C T rs762784775 MUC5B Synonymous SNV S4527S 0.009 0 0.01 3 11 0 0.008 3 0 0 0 0 7.021 75455 chr11 1271784 1271784 T C rs202088302 MUC5B Synonymous SNV T4558T 0.016 0.01 0.007 6 19 4 0.015 2 0 0 0 0 Likely benign 0.016 75456 chr11 1271861 1271861 C T rs201778566 MUC5B Nonsynonymous SNV T4584I 0.016 0.01 0.01 6 19 4 0.015 3 0 0 0 0 Benign 0.094 75457 chr11 1271891 1271891 C T rs4046524 MUC5B Nonsynonymous SNV P4594L 0.016 0.01 0.01 6 19 4 0.015 3 0 0 0 0 8.523 75458 chr11 62948178 62948178 G A rs144387617 SLC22A25 Nonsynonymous SNV R342C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 21.5 75459 chr11 63064783 63064783 G A rs185055343 SLC22A10 Nonsynonymous SNV R172Q 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 75460 chr11 47611890 47611890 G A rs944728116 C1QTNF4 Nonsynonymous SNV A158V 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 24.2 75461 chr11 1271894 1271894 C G rs200422772 MUC5B Nonsynonymous SNV T4595S 0.016 0.01 0.007 6 19 4 0.015 2 0 0 0 0 0.067 75462 chr11 1272033 1272033 C T rs768217027 MUC5B Synonymous SNV S4641S 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 6.478 75463 chr11 1272034 1272034 A G rs188444809 MUC5B Nonsynonymous SNV I4642V 0.016 0.01 0.007 6 19 4 0.015 2 0 0 0 0 Likely benign 0.003 75464 chr11 1272696 1272696 - TCCACGGCCACTGCCTCCTCCACCCCAGGGACCACCTGGATCCTCACAGAGTCGAGCACTACAGCCACCGTGACGGTGCCCACCAGC MUC5B T4870_L4871insPGTTWILTESSTTATVTVPTSSTATASST 0.012 0.01 0.01 5 14 4 0.013 3 0 0 0 0 75465 chr11 1272828 1272828 T C rs145066684 MUC5B Synonymous SNV P4906P 0.014 0.01 0.017 6 17 4 0.015 5 0 0 0 0 Likely benign 0.004 75466 chr11 1273646 1273646 T C rs148759448 MUC5B Synonymous SNV I4979I 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 0.129 75467 chr11 1275554 1275554 C T rs117336883 MUC5B Synonymous SNV T5150T 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 7.121 75468 chr11 1275988 1275988 T C rs56232219 MUC5B Nonsynonymous SNV L5181P 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 4.897 75469 chr11 1276423 1276423 G C rs56123928 MUC5B Nonsynonymous SNV A5273P 0.016 0.01 0.014 5 19 4 0.013 4 0 0 0 0 Benign 4.406 75470 chr11 47711642 47711642 C T rs138957877 AGBL2 Synonymous SNV R539R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 12.74 75471 chr11 1276467 1276467 A G rs56344012 MUC5B Synonymous SNV P5287P 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign/Likely benign 0.015 75472 chr11 1276694 1276694 T C rs56229218 MUC5B Synonymous SNV L5324L 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 0.05 75473 chr11 1276775 1276775 C T rs117452757 MUC5B Synonymous SNV T5351T 0.014 0.008 0.01 6 16 3 0.015 3 0 0 0 0 Benign 11.6 75474 chr11 1277429 1277429 C A rs55845452 MUC5B Synonymous SNV P5370P 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 11.84 75475 chr11 1277894 1277894 C T rs56310773 MIR6744 0.016 0.01 0.01 6 19 4 0.015 3 0 0 0 0 Benign 7.359 75476 chr11 1278796 1278796 G A rs55657020 MUC5B Nonsynonymous SNV V5436M 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 11.71 75477 chr11 1278912 1278912 G C rs56220864 MUC5B Nonsynonymous SNV E5474D 0.016 0.01 0.014 6 19 4 0.015 4 0 0 0 0 Benign 11 75478 chr11 1279354 1279354 G A rs55784821 MUC5B Synonymous SNV Q5492Q 0.016 0.01 0.01 6 19 4 0.015 3 0 0 0 0 Benign 2.814 75479 chr11 48285558 48285558 C T rs140161944 OR4X1 Nonsynonymous SNV A49V 0.012 0.013 0.003 1 14 5 0.003 1 0 0 0 0 5.822 75480 chr11 76914189 76914189 G T rs377388669 MYO7A Synonymous SNV P1751P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.45 75481 chr11 133816142 133816142 G A rs927149139 IGSF9B Synonymous SNV L26L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.764 75482 chr11 64597316 64597316 G A rs755649599 CDC42BPG Synonymous SNV A1198A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.45 75483 chr11 64607670 64607670 G A rs34454471 CDC42BPG Nonsynonymous SNV P168L 0.014 0.013 0.014 10 17 5 0.026 4 0 0 0 0 32 75484 chr3 42544290 42544296 GGCCCTT - VIPR1 W12Afs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 75485 chr11 15197426 15197426 G T INSC Nonsynonymous SNV G66C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 75486 chr11 78369403 78369403 G A rs34562198 TENM4 Synonymous SNV Y2670Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 0.174 75487 chr11 65047016 65047016 C G POLA2 Synonymous SNV T221T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 75488 chr11 78523276 78523276 G A rs34791547 TENM4 Synonymous SNV C623C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.12 75489 chr11 65346829 65346829 G A rs376949897 EHBP1L1 Synonymous SNV P60P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.92 75490 chr2 3469399 3469399 C T rs114907951 TRAPPC12 Nonsynonymous SNV S570L 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Likely benign 23.7 75491 chr11 1718492 1718492 G T rs58645950 KRTAP5-6 Nonsynonymous SNV C6F 0.039 0.034 0.02 9 46 13 0.023 6 0 0 0 0 8.529 75492 chr11 1718833 1718833 T G rs73404785 KRTAP5-6 Nonsynonymous SNV C120G 0.039 0.034 0.027 9 46 13 0.023 8 0 0 0 0 6.833 75493 chr2 6990069 6990069 C T rs185606099 CMPK2 Nonsynonymous SNV G421D 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 22.2 75494 chr11 82644764 82644764 C G rs11826199 DDIAS Nonsynonymous SNV P795R 0.03 0.016 0.034 11 35 6 0.028 10 0 0 0 0 22.5 75495 chr11 17448642 17448642 C T rs138687850 ABCC8 Nonsynonymous SNV A726T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.3 75496 chr11 1775284 1775284 C T rs140238987 CTSD Synonymous SNV P304P 0.01 0.013 0.003 1 12 5 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.19 75497 chr3 46306889 46306889 C T rs202155031 CCR3 Synonymous SNV D80D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.397 75498 chr11 6559961 6559961 G A rs118078642 DNHD1 Synonymous SNV E1082E 0.013 0.016 0.007 4 15 6 0.01 2 0 0 0 0 Benign 9.168 75499 chr11 18332420 18332420 C T rs149229493 HPS5 Star tloss M1? 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.253 75500 chr3 46574357 46574357 T G rs115132856 LRRC2 Nonsynonymous SNV Y178S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 75501 chr11 85956316 85956316 G T rs202211864 EED Nonsynonymous SNV M15I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.53 75502 chr11 65667793 65667793 C T rs559903574 FOSL1 Synonymous SNV G6G 0.01 0.018 0.024 3 12 7 0.008 7 0 0 1 0 18.84 75503 chr11 66252646 66252646 G A rs146040863 DPP3 Synonymous SNV A91A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 75504 chr1 210578003 210578003 T C rs147320835 HHAT Nonsynonymous SNV F223L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24 75505 chr11 6651721 6651721 G A rs1039764623 DCHS1 Nonsynonymous SNV A1435V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 75506 chr2 17962924 17962924 C T rs148781334 GEN1 Synonymous SNV Y815Y 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 1.825 75507 chr11 65792927 65792927 C T rs138686285 CATSPER1 Synonymous SNV A308A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.858 75508 chr3 47913498 47913498 C T rs34711403 MAP4 Synonymous SNV Q805Q 0.015 0.023 0.031 2 18 9 0.005 9 0 0 0 0 Benign 8.019 75509 chr11 4903771 4903771 G A rs377572471 OR51T1 Synonymous SNV L214L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.25 75510 chr1 212530391 212530391 G A PPP2R5A Nonsynonymous SNV V303I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 75511 chr1 212538572 212538572 C T rs12087727 PACC1 Synonymous SNV T346T 0.01 0.01 0.01 0 12 4 0 3 0 0 0 0 13.89 75512 chr3 48338319 48338319 C T NME6 Nonsynonymous SNV A31T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 75513 chr3 48498732 48498732 A G ATRIP Nonsynonymous SNV T156A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 75514 chr3 48507182 48507182 A G rs12486046 ATRIP-TREX1 0 0 0.01 0 0 0 0 3 0 0 0 0 14.94 75515 chr11 92087974 92087974 A G rs200304764 FAT3 Nonsynonymous SNV N899S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.873 75516 chr3 49148448 49148448 G A rs190408179 USP19 Synonymous SNV H1044H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.045 75517 chr11 67378596 67378596 C T rs139299777 NDUFV1 Synonymous SNV N268N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.05 75518 chr11 126075608 126075608 G A rs35157957 RPUSD4 Nonsynonymous SNV A209V 0.009 0.018 0.007 4 10 7 0.01 2 0 0 0 0 10.14 75519 chr11 5322414 5322414 G T rs189732174 OR51B4 Nonsynonymous SNV L255M 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 22.9 75520 chr11 66617476 66617476 C T rs747039077 PC Nonsynonymous SNV V944M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 26.7 75521 chr11 20949960 20949960 C T rs55926004 NELL1 Nonsynonymous SNV P254L 0.004 0.008 0.003 0 5 3 0 1 0 1 0 0 Likely benign 22.8 75522 chr11 1262859 1262859 C T rs56086719 MUC5B Synonymous SNV G1583G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 13.89 75523 chr3 49831299 49831299 G - CDHR4 H474Mfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 75524 chr11 1263813 1263813 G A rs138536141 MUC5B Synonymous SNV P1901P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 5.703 75525 chr11 128781441 128781441 C T rs146853795 KCNJ5 Synonymous SNV L91L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 9.016 75526 chr11 6807103 6807103 A G rs151120105 OR2AG1 Nonsynonymous SNV T279A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 21.6 75527 chr3 50137307 50137307 - A RBM5-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 75528 chr3 50155888 50155889 GA - rs112672304 RBM5 *816* 0.037 0.047 0.139 17 43 18 0.044 41 0 0 0 0 75529 chr3 51929096 51929096 C T rs114559032 IQCF1 Nonsynonymous SNV R143H 0.009 0.016 0.024 12 11 6 0.031 7 1 0 0 1 22.7 75530 chr11 68853197 68853197 G A rs144905179 TPCN2 Nonsynonymous SNV A633T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.78 75531 chr11 55111142 55111142 G A rs139609370 OR4A16 Nonsynonymous SNV V156I 0.004 0.013 0 4 5 5 0.01 0 0 0 0 0 0.001 75532 chr3 52880517 52880517 C T rs536591725 MIR8064 0 0 0.003 0 0 0 0 1 0 0 0 0 4.559 75533 chr11 68452438 68452438 C T rs34725707 GAL Nonsynonymous SNV A16V 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 Benign 10.72 75534 chr11 15197534 15197534 C T rs141502743 INSC Nonsynonymous SNV R102W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 75535 chr3 53857691 53857691 C G rs554569560 CHDH Synonymous SNV L115L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.11 75536 chr11 284527 284527 C T rs141643027 NLRP6 Nonsynonymous SNV R808W 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 75537 chr3 55886574 55886575 AA - rs10575780 MIR3938 0 0 0.146 0 0 0 0 43 0 0 3 0 75538 chr3 56655621 56655621 A G rs144848139 CCDC66 Nonsynonymous SNV E908G 0 0.008 0.007 0 0 3 0 2 0 0 0 0 23.9 75539 chr11 7068038 7068038 C T NLRP14 Nonsynonymous SNV P700S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 75540 chr11 18253104 18253104 C T rs72881547 SAA2-SAA4, SAA4 Nonsynonymous SNV R113Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 75541 chr11 70332475 70332475 T C rs368163695 SHANK2 Nonsynonymous SNV Q720R 0.003 0.008 0 3 3 3 0.008 0 0 0 0 1 10.93 75542 chr3 57543400 57543400 T G rs369543865 PDE12 Nonsynonymous SNV S432A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.23 75543 chr12 104187732 104187732 G T rs12184494 NT5DC3 Nonsynonymous SNV A266E 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 19.48 75544 chr11 71259841 71259841 C T rs189729045 KRTAP5-9 Synonymous SNV C46C 0.02 0.018 0.02 1 24 7 0.003 6 1 0 0 0 12.66 75545 chr3 58117724 58117724 G A rs60183346 FLNB Synonymous SNV P1487P 0.024 0.016 0.058 9 28 6 0.023 17 0 0 2 0 13.59 75546 chr11 55861490 55861490 C T rs139437994 OR8I2 Nonsynonymous SNV A236V 0.004 0.013 0 5 5 5 0.013 0 0 0 0 0 24.1 75547 chr11 71640145 71640145 C T rs778568751 RNF121 Nonsynonymous SNV A13V 0.004 0 0 0 5 0 0 0 0 0 0 0 23.2 75548 chr11 18743533 18743533 G A IGSF22 Synonymous SNV T55T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.6 75549 chr3 63898390 63898390 - GCC rs770364745 ATXN7 P43_Q44insP 0.002 0 0.017 3 2 0 0.008 5 0 0 0 0 75550 chr3 64085744 64085744 G A rs11705855 PRICKLE2-AS1 0 0 0.194 0 0 0 0 57 0 0 8 0 3.324 75551 chr11 35227745 35227745 A G rs140510483 CD44 Nonsynonymous SNV I414V 0.012 0.013 0.014 5 14 5 0.013 4 1 0 0 0 Benign 0.009 75552 chr3 64536626 64536626 C T rs374354849 ADAMTS9 Nonsynonymous SNV R1576H 0.007 0 0.007 0 8 0 0 2 0 0 0 0 0.575 75553 chr11 72945254 72945254 A G rs117372847 P2RY2 Nonsynonymous SNV D17G 0.005 0.003 0.014 0 6 1 0 4 0 0 0 0 11.89 75554 chr12 106804612 106804612 A G rs145542203 POLR3B Synonymous SNV E267E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 7.888 75555 chr3 69987081 69987081 G C MITF Nonsynonymous SNV V48L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 75556 chr11 56143392 56143392 C A rs62623589 OR8U1, OR8U8 Nonsynonymous SNV A98D 0.004 0.013 0 4 5 5 0.01 0 0 0 0 0 25 75557 chr11 20177888 20177888 C T rs61732858 DBX1 Nonsynonymous SNV D302N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 32 75558 chr2 37458898 37458898 G A rs72875762 NDUFAF7 Nonsynonymous SNV R17H 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 Benign 13.11 75559 chr2 37486774 37486774 A G rs28548299 PRKD3 Synonymous SNV D699D 0.005 0.013 0.01 5 6 5 0.013 3 0 0 0 0 7.474 75560 chr2 37502951 37502951 G T rs55912911 PRKD3 Nonsynonymous SNV L445I 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 13.72 75561 chr12 109017367 109017367 C T rs147460990 SELPLG Synonymous SNV T255T 0.003 0.013 0 2 4 5 0.005 0 0 0 0 0 Benign 10.97 75562 chr3 88040492 88040492 T C rs765774121 HTR1F Nonsynonymous SNV L198S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 75563 chr11 56143465 56143465 A C rs200311238 OR8U1, OR8U8 Synonymous SNV R122R 0.004 0.013 0 5 5 5 0.013 0 0 0 0 0 0.002 75564 chr2 39090575 39090575 G A DHX57 Nonsynonymous SNV T2I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 75565 chr3 95374182 95374182 T C rs6767658 MTHFD2P1 0 0 0.041 0 0 0 0 12 0 0 4 0 2.73 75566 chr3 9695324 9695324 G A rs777695208 MTMR14 Nonsynonymous SNV R60K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 75567 chr3 9776223 9776223 C T BRPF1 Synonymous SNV G133G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.758 75568 chr11 45923977 45923977 A C rs768456458 MAPK8IP1 Nonsynonymous SNV Q220P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.432 75569 chr3 99514140 99514140 G A rs752901247 COL8A1 Synonymous SNV G465G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 75570 chr3 99569847 99569847 C T rs199530891 FILIP1L Nonsynonymous SNV V225I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.499 75571 chr2 44161960 44161960 T C rs4494798 LRPPRC Synonymous SNV V854V 0.011 0.005 0.017 11 13 2 0.028 5 0 0 0 0 Benign 5.242 75572 chr2 44508595 44508595 G A rs142469446 SLC3A1 Nonsynonymous SNV R227Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 75573 chr11 7712629 7712629 G A rs114134026 OVCH2 Nonsynonymous SNV R504W 0.002 0 0.007 0 2 0 0 2 0 0 1 0 23.5 75574 chr11 27384449 27384466 TCATCCACGTCTTCCTCA - rs138931796 CCDC34 D92_D97del 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 75575 chr11 27390476 27390476 A G rs12291757 LGR4 Synonymous SNV D574D 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 0.508 75576 chr11 27393886 27393886 G A rs12284579 LGR4 Nonsynonymous SNV A456V 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 18.84 75577 chr11 77336063 77336063 A T rs141952158 CLNS1A Synonymous SNV P105P 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 3.588 75578 chr2 53921023 53921023 A G rs149703788 ASB3, GPR75-ASB3 Nonsynonymous SNV I383T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.5 75579 chr11 7982073 7982073 G A rs764794042 NLRP10 Synonymous SNV S362S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.956 75580 chr12 113403675 113403675 C T rs61942233 OAS3 Stop gain R844X 0.009 0.01 0.01 1 11 4 0.003 3 0 0 0 0 38 75581 chr2 54853311 54853311 G A SPTBN1 Synonymous SNV L515L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.22 75582 chr2 54886335 54886335 G A rs140377991 SPTBN1 Synonymous SNV R2083R 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Benign 12.58 75583 chr4 10447155 10447155 A T rs149561889 ZNF518B Nonsynonymous SNV H266Q 0.017 0.005 0.007 11 20 2 0.028 2 0 0 0 0 0.237 75584 chr2 55186362 55186362 G A rs568443652 EML6 Nonsynonymous SNV R1606Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.5 75585 chr4 104640388 104640388 T C rs750591352 TACR3 Nonsynonymous SNV S149G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.68 75586 chr2 55490989 55490989 G A rs145314729 MTIF2 Synonymous SNV N2N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 11.25 75587 chr11 56468225 56468225 G A rs148651508 OR9G1, OR9G9 Nonsynonymous SNV R121H 0.004 0.016 0 5 5 6 0.013 0 0 0 0 0 20.4 75588 chr12 118499956 118499956 G A rs77531942 WSB2 Synonymous SNV D4D 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 3.5 75589 chr11 56237553 56237553 G A rs151336401 OR5M3 Stop gain R141X 0.004 0 0.003 0 5 0 0 1 1 0 0 0 33 75590 chr11 48238773 48238773 C T rs61731416 OR4B1 Synonymous SNV L138L 0.034 0.042 0.031 22 40 16 0.056 9 1 0 0 0 8.73 75591 chr11 34912059 34912059 G A rs138288686 APIP Stop gain R67X 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 39 75592 chr11 86055725 86055725 A C rs368044577 HIKESHI Synonymous SNV P147P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.463 75593 chr11 86103702 86103702 A G rs10501615 CCDC81 Nonsynonymous SNV M140V 0.032 0.039 0.014 15 37 15 0.038 4 0 0 0 1 0.367 75594 chr11 48286252 48286252 A G OR4X1 Synonymous SNV L280L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 75595 chr12 120984266 120984266 C T rs144374907 RNF10 Synonymous SNV P72P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.71 75596 chr1 245849729 245849729 G A rs3820246 KIF26B Synonymous SNV P1148P 0.01 0.008 0.007 9 12 3 0.023 2 0 0 0 0 Benign 7.497 75597 chr12 121416864 121416864 C T rs1800574 HNF1A Nonsynonymous SNV A98V 0.041 0.057 0.054 24 48 22 0.062 16 2 0 1 0 Benign 23.4 75598 chr1 245850506 245850506 G C rs3806273 KIF26B Synonymous SNV P1407P 0.014 0.008 0.017 12 17 3 0.031 5 0 0 0 0 Benign 0.013 75599 chr1 245851289 245851289 G T rs58427858 KIF26B Synonymous SNV S1668S 0.011 0.01 0.007 9 13 4 0.023 2 1 0 0 0 Benign 0.056 75600 chr11 8670079 8670079 G A rs80143280 TRIM66 Synonymous SNV P58P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.17 75601 chr4 114257773 114257773 G A rs758014143 ANK2 Nonsynonymous SNV G387D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 75602 chr4 114823667 114823667 C T rs61730233 ARSJ Synonymous SNV R521R 0.008 0.008 0.007 6 9 3 0.015 2 0 0 0 0 11.56 75603 chr4 115577997 115577997 C G rs34115976 MIR577 0 0 0.211 0 0 0 0 62 0 0 7 0 3.008 75604 chr2 69046406 69046406 C T rs17604346 ARHGAP25 Synonymous SNV A378A 0.014 0.005 0.034 9 17 2 0.023 10 0 0 0 0 12.88 75605 chr11 8752452 8752452 C T DENND2B Nonsynonymous SNV A129T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.19 75606 chr2 3605984 3605984 G C rs987222223 RNASEH1-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.673 75607 chr12 121877797 121877797 C T rs782061809 KDM2B Nonsynonymous SNV R1162Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 75608 chr12 122217507 122217507 C T rs61751318 RHOF Nonsynonymous SNV R178Q 0.025 0.031 0.003 10 29 12 0.026 1 0 0 0 0 22.9 75609 chr12 122380509 122380509 C T rs200313633 WDR66 Synonymous SNV H356H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.77 75610 chr4 122301595 122301595 C A rs55693553 QRFPR Nonsynonymous SNV V70L 0.029 0.016 0.031 9 34 6 0.023 9 1 0 0 0 31 75611 chr4 122301597 122301597 A C rs34270076 QRFPR Nonsynonymous SNV V69G 0.029 0.016 0.031 9 34 6 0.023 9 1 0 0 0 26.6 75612 chr12 122622795 122622795 A G rs74580294 MLXIP Nonsynonymous SNV M737V 0.006 0.01 0.017 2 7 4 0.005 5 0 0 0 0 15.38 75613 chr11 57996265 57996265 T C rs372456326 OR10Q1 Nonsynonymous SNV Q28R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 6.132 75614 chr2 71360431 71360431 G A rs150757204 MPHOSPH10 Nonsynonymous SNV V165I 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 15.12 75615 chr4 1244267 1244267 A G rs2291199 CTBP1-DT 0 0 0.17 0 0 0 0 50 0 0 18 0 9.825 75616 chr4 126241335 126241335 C G rs36052762 FAT4 Nonsynonymous SNV Q1257E 0.058 0.07 0.088 27 68 27 0.069 26 5 0 1 0 Benign 9.79 75617 chr11 93420940 93420940 G A rs374528208 CEP295 Synonymous SNV T415T 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 9.48 75618 chr11 57235409 57235409 G T rs61745214 RTN4RL2 Nonsynonymous SNV R120L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 75619 chr11 57235410 57235410 C T rs61745215 RTN4RL2 Synonymous SNV R120R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.87 75620 chr11 5758386 5758386 C T rs62621167 OR56B1 Nonsynonymous SNV L214F 0.033 0.029 0.024 17 39 11 0.044 7 2 0 0 0 0.005 75621 chr12 124377814 124377814 A G rs6488908 DNAH10 Synonymous SNV K2892K 0.043 0.044 0.061 20 51 17 0.051 18 0 0 0 0 Benign 0.334 75622 chr12 101480521 101480521 G A rs138063019 ANO4 Synonymous SNV A540A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.72 75623 chr11 5776926 5776926 A G rs190757899 OR52N4 Nonsynonymous SNV Y319C 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Benign 16.39 75624 chr12 124417973 124417973 C T rs56219209 DNAH10 Synonymous SNV N4346N 0.02 0.031 0.044 7 23 12 0.018 13 0 0 1 0 Benign 16.49 75625 chr2 74057995 74057995 T C rs919629 STAMBP Synonymous SNV H4H 0.032 0.021 0.02 7 38 8 0.018 6 2 1 0 0 Likely benign 1.694 75626 chr2 74076531 74076531 C T rs747329455 STAMBP Nonsynonymous SNV R127W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 75627 chr2 74077556 74077556 G T rs77000353 STAMBP Synonymous SNV G172G 0.032 0.021 0.017 7 38 8 0.018 5 2 1 0 0 Likely benign 11.79 75628 chr4 13545610 13545610 C T rs10032202 NKX3-2 Synonymous SNV A143A 0.009 0.01 0.014 7 10 4 0.018 4 0 0 0 0 Benign 21.6 75629 chr4 13548990 13548990 A G rs28378481 LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 75630 chr12 1017830 1017830 G A rs146042595 WNK1 Nonsynonymous SNV G2093S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.79 75631 chr2 75897347 75897347 G A rs140229675 GCFC2 Synonymous SNV L505L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 15.66 75632 chr11 58189808 58189808 T C rs145763675 OR5B2 Synonymous SNV L309L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 75633 chr2 80529655 80529655 C T rs138747880 LRRTM1 Synonymous SNV T430T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.41 75634 chr11 47681728 47681728 C T rs143937205 AGBL2 Synonymous SNV P902P 0.011 0.016 0.027 4 13 6 0.01 8 0 0 0 0 Benign 10.24 75635 chr12 10074678 10074678 G T rs377012475 CLEC2A Nonsynonymous SNV T98K 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 23.4 75636 chr11 5862339 5862339 G C rs185269636 OR52E6 Nonsynonymous SNV H263Q 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 8.287 75637 chr12 104092900 104092900 G A rs146077849 STAB2 Synonymous SNV V1203V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.92 75638 chr2 85577956 85577956 C T rs201313189 RETSAT Nonsynonymous SNV E182K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.92 75639 chr12 104124018 104124018 A C rs17034433 STAB2 Nonsynonymous SNV N1736T 0.037 0.052 0.037 14 43 20 0.036 11 0 0 0 0 0.192 75640 chr11 59480948 59480948 A T rs150161327 OR10V1 Nonsynonymous SNV F124Y 0.014 0.01 0.007 8 16 4 0.021 2 0 0 0 0 0.058 75641 chr2 85924686 85924686 G A rs778844953 GNLY Nonsynonymous SNV D105N 0.005 0 0 0 6 0 0 0 0 0 0 0 17.38 75642 chr11 48346712 48346712 A G rs149441689 OR4C3 Nonsynonymous SNV I47V 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.004 75643 chr2 86302253 86302253 C T rs142266408 POLR1A Nonsynonymous SNV R504H 0.006 0 0.014 2 7 0 0.005 4 0 0 0 0 Likely benign 24.2 75644 chr12 10277991 10277991 G A rs144190589 CLEC7A Synonymous SNV L54L 0.003 0.016 0.003 1 4 6 0.003 1 0 0 0 0 Benign 8.914 75645 chr11 59271585 59271585 C T rs374819635 OR4D11 Synonymous SNV C179C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.506 75646 chr11 60105366 60105366 T C rs2289613 MS4A6E Synonymous SNV Y100Y 0.051 0.042 0.024 25 60 16 0.064 7 0 0 0 0 0.002 75647 chr12 132628616 132628616 C T DDX51 Nonsynonymous SNV V76M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.756 75648 chr4 154641371 154641371 C T rs201891647 RNF175 Nonsynonymous SNV E199K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 75649 chr12 107141265 107141265 G A rs61743416 RFX4 Nonsynonymous SNV A468T 0.013 0.023 0.02 0 15 9 0 6 0 0 0 0 22.3 75650 chr12 133438985 133438985 C A rs113941471 CHFR Nonsynonymous SNV A144S 0.012 0.018 0 13 14 7 0.033 0 0 0 0 0 1.477 75651 chr12 108910944 108910944 G A rs567586731 FICD Synonymous SNV P65P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 75652 chr12 10772876 10772876 C T rs34638573 STYK1 Nonsynonymous SNV R379H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 31 75653 chr12 107937782 107937782 C G BTBD11 Synonymous SNV P452P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.25 75654 chr12 14659926 14659926 C T rs75778757 PLBD1 Nonsynonymous SNV R438Q 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 35 75655 chr4 156773446 156773446 T G rs145959196 ASIC5 Nonsynonymous SNV E203A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.8 75656 chr12 15776164 15776164 A C rs7137185 EPS8 Nonsynonymous SNV D761E 0.008 0.008 0.014 4 9 3 0.01 4 0 0 0 0 Benign/Likely benign 12.46 75657 chr2 15555832 15555832 A G rs79283114 NBAS Synonymous SNV D925D 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 4.723 75658 chr12 109309571 109309571 C T rs76609278 SVOP Synonymous SNV P423P 0.032 0.049 0.037 16 38 19 0.041 11 0 2 0 0 15.47 75659 chr4 16258292 16258292 A T rs9994269 TAPT1-AS1 0 0 0.037 0 0 0 0 11 0 0 4 0 6.146 75660 chr11 55340318 55340318 G A rs143423274 OR4C16 Nonsynonymous SNV V239I 0.026 0.031 0.01 17 31 12 0.044 3 2 0 0 0 0.002 75661 chr11 4869658 4869658 G T rs113028061 OR51S1 Nonsynonymous SNV P261T 0.005 0.01 0.003 4 6 4 0.01 1 0 0 0 0 23.5 75662 chr4 1729838 1729838 C T TACC3 Nonsynonymous SNV R237W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 75663 chr12 248155 248155 C T rs55923022 IQSEC3 Synonymous SNV A239A 0.078 0.065 0.112 36 91 25 0.092 33 7 2 4 5 12.82 75664 chr12 25149226 25149226 C T C12orf77 Synonymous SNV K17K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.25 75665 chr11 62284468 62284468 A C rs11555629 AHNAK Synonymous SNV S5807S 0.049 0.057 0.037 17 57 22 0.044 11 1 0 0 0 0.001 75666 chr11 62285441 62285441 A G rs61312994 AHNAK Nonsynonymous SNV I5483T 0.048 0.057 0.037 17 56 22 0.044 11 1 0 0 0 22.1 75667 chr11 62285665 62285665 C T rs61625484 AHNAK Synonymous SNV L5408L 0.049 0.057 0.037 17 57 22 0.044 11 1 0 0 0 4.999 75668 chr11 62287828 62287828 T C rs12292433 AHNAK Synonymous SNV K4687K 0.049 0.057 0.037 17 57 22 0.044 11 1 0 0 0 0.004 75669 chr11 62290719 62290719 A G rs11231128 AHNAK Nonsynonymous SNV S3724P 0.049 0.057 0.037 17 57 22 0.044 11 1 0 0 0 9.316 75670 chr11 55587587 55587587 C T rs62001009 OR5D18 Nonsynonymous SNV T161M 0.035 0.036 0.01 17 41 14 0.044 3 2 0 0 0 23.6 75671 chr4 175898598 175898598 A T rs761836998 ADAM29 Nonsynonymous SNV H641L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 25.9 75672 chr11 62295361 62295361 C A rs145871196 AHNAK Nonsynonymous SNV E2176D 0.048 0.057 0.037 17 56 22 0.044 11 1 0 0 0 0.001 75673 chr11 5067846 5067846 G A rs773085013 OR52J3 Nonsynonymous SNV G31R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 75674 chr11 62296535 62296535 T C rs77055528 AHNAK Nonsynonymous SNV D1785G 0.049 0.057 0.037 17 57 22 0.044 11 1 0 0 0 19.83 75675 chr11 62296601 62296601 T C rs74853209 AHNAK Nonsynonymous SNV K1763R 0.049 0.057 0.037 17 57 22 0.044 11 1 0 0 0 18.21 75676 chr11 62297162 62297162 G A rs75855515 AHNAK Nonsynonymous SNV T1576M 0.048 0.057 0.037 17 56 22 0.044 11 1 0 0 0 18.94 75677 chr11 62297447 62297447 T C rs75436331 AHNAK Nonsynonymous SNV K1481R 0.048 0.057 0.037 18 56 22 0.046 11 1 0 0 0 16.43 75678 chr11 62299945 62299945 A C rs11231130 AHNAK Synonymous SNV V648V 0.05 0.057 0.037 17 59 22 0.044 11 2 0 0 0 0.001 75679 chr11 62303555 62303555 - CTC rs113658672 AHNAK E5_T6insE 0.05 0.057 0.037 17 59 22 0.044 11 2 0 0 0 75680 chr11 6243673 6243673 C T rs745431912 FAM160A2 Nonsynonymous SNV R397Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.1 75681 chr11 55904466 55904466 C T rs774862778 OR8J3 Synonymous SNV S243S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.179 75682 chr4 17885356 17885356 C G LCORL Nonsynonymous SNV S599T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 75683 chr12 113425154 113425154 C A rs1293767 OAS2 Nonsynonymous SNV S163R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 3.966 75684 chr12 30877308 30877308 G A rs144969010 CAPRIN2 Synonymous SNV P328P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 75685 chr11 56127971 56127971 T G rs62001034 OR8J1 Nonsynonymous SNV I83M 0.047 0.044 0.024 23 55 17 0.059 7 2 0 0 0 0.607 75686 chr11 6411935 6411941 TGCTGGC TGGCGCTGGC SMPD1 V36_L37insA 0.003 0 0 0 3 0 0 0 0 0 0 0 75687 chr12 117387465 117387465 A G rs36021180 FBXW8 Nonsynonymous SNV T145A 0.009 0.008 0 7 10 3 0.018 0 0 0 0 0 Benign 1.634 75688 chr4 186318414 186318414 T G rs116240990 ANKRD37 Nonsynonymous SNV F46L 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 10.92 75689 chr11 63487910 63487910 A G rs566313784 RTN3 Nonsynonymous SNV I534V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.405 75690 chr11 64601099 64601099 T C rs55709937 CDC42BPG Synonymous SNV T866T 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 0.316 75691 chr12 118533464 118533464 G A rs142979297 VSIG10 Nonsynonymous SNV R79C 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 32 75692 chr4 186446257 186446257 G A rs112661328 PDLIM3 Synonymous SNV G54G 0.005 0.01 0.014 2 6 4 0.005 4 0 0 0 0 Benign 13.92 75693 chr11 640576 640576 C T rs370568420 DRD4 Synonymous SNV F411F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.95 75694 chr12 120947889 120947889 G A rs201190177 COQ5 Synonymous SNV P204P 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 13.47 75695 chr11 64087269 64087269 G A rs77269065 PRDX5 Nonsynonymous SNV A27T 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 22.8 75696 chr12 42499802 42499802 C A rs78540738 GXYLT1 Nonsynonymous SNV D197Y 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 29.8 75697 chr12 123481019 123481019 C T rs147212495 PITPNM2 Nonsynonymous SNV V590M 0.007 0.005 0.027 3 8 2 0.008 8 0 0 0 0 26.2 75698 chr4 187630926 187630926 C G rs200192750 FAT1 Nonsynonymous SNV G19A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 11.09 75699 chr11 64599139 64599139 C T rs11231887 CDC42BPG Nonsynonymous SNV A1048T 0.046 0.036 0.075 20 54 14 0.051 22 0 1 1 0 25 75700 chr12 121605376 121605376 G A rs145948482 P2RX7 Nonsynonymous SNV R277H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 34 75701 chr12 123782715 123782715 G A rs201716804 SBNO1 Synonymous SNV R1283R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.69 75702 chr2 121747544 121747544 A G rs149140724 GLI2 Nonsynonymous SNV M1352V 0.018 0.023 0.017 14 21 9 0.036 5 0 1 0 0 Benign/Likely benign 0.007 75703 chr2 121748048 121748048 G A rs114814747 GLI2 Nonsynonymous SNV D1520N 0.017 0.021 0.017 14 20 8 0.036 5 0 1 0 0 Benign/Likely benign 29.6 75704 chr12 121678327 121678327 - T rs778701848 CAMKK2 Frameshift insertion G539Rfs*3 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 75705 chr12 124458568 124458568 - CAAA ZNF664, ZNF664-RFLNA 0.001 0 0 0 1 0 0 0 0 0 0 0 75706 chr12 121858050 121858050 A G rs138199363 RNF34 Synonymous SNV Q21Q 0 0.005 0 2 0 2 0.005 0 0 0 0 0 3.227 75707 chr12 124458569 124458569 - CCAAGAGACACATCTTTGGAAGATAAGAGAGCTTCTTCAAGACCAAA ZNF664, ZNF664-RFLNA 0.001 0 0 0 1 0 0 0 0 0 0 0 75708 chr11 64680801 64680801 G A rs61744001 ATG2A Synonymous SNV A221A 0.03 0.031 0.041 18 35 12 0.046 12 0 1 0 0 12.77 75709 chr12 4662210 4662210 T C rs17850028 RAD51AP1 Synonymous SNV S206S 0.061 0.052 0.014 17 72 20 0.044 4 4 1 0 1 8.032 75710 chr4 25347205 25347205 A G rs61746661 ZCCHC4 Nonsynonymous SNV H241R 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 1.064 75711 chr11 64808960 64808960 C T SAC3D1 Nonsynonymous SNV P66S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.5 75712 chr2 128393390 128393390 G A rs61748909 MYO7B Nonsynonymous SNV D1946N 0.009 0.013 0.014 2 11 5 0.005 4 0 0 0 0 23.4 75713 chr11 64813685 64813685 G C rs36053340 NAALADL1 Nonsynonymous SNV L611V 0.052 0.042 0.054 24 61 16 0.062 16 0 1 0 0 13.08 75714 chr12 125397244 125397244 A G rs71458876 UBC Synonymous SNV R358R 0.02 0.013 0.02 6 23 5 0.015 6 0 1 2 0 Benign 2.991 75715 chr12 47629284 47629284 G T PCED1B Synonymous SNV L146L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.938 75716 chr12 48145530 48145530 C T rs777121861 RAPGEF3 Nonsynonymous SNV R77Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 75717 chr2 131487698 131487698 G A rs77932609 GPR148 Nonsynonymous SNV R325Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 75718 chr2 131674527 131674527 A G ARHGEF4 Nonsynonymous SNV H1003R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.584 75719 chr4 3076654 3076657 GCAG - rs754481229 HTT Q34Hfs*66 0.015 0.026 0.017 12 18 10 0.031 5 0 0 0 0 75720 chr11 65408395 65408395 G A SIPA1 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 15.88 75721 chr11 55735655 55735655 A G OR10AG1 Synonymous SNV F95F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 75722 chr12 123351786 123351786 G A rs138310143 VPS37B Synonymous SNV P245P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 3.82 75723 chr12 123352107 123352107 G A rs751478421 VPS37B Synonymous SNV F138F 0 0.005 0 0 0 2 0 0 0 0 0 0 13.36 75724 chr2 133542510 133542510 T A NCKAP5 Nonsynonymous SNV K625I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 75725 chr12 124239029 124239029 C T rs138886791 ATP6V0A2 Synonymous SNV C746C 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.65 75726 chr4 3591262 3591262 C T rs34792033 LINC00955 0 0 0.221 0 0 0 0 65 0 0 0 0 1.588 75727 chr4 3591265 3591265 T C rs62272975 LINC00955 0 0 0.224 0 0 0 0 66 0 0 0 0 0.207 75728 chr4 3591271 3591271 A G rs62272976 LINC00955 0 0 0.177 0 0 0 0 52 0 0 0 0 4.847 75729 chr4 3591299 3591299 T C rs62272977 LINC00955 0 0 0.065 0 0 0 0 19 0 0 0 0 1.269 75730 chr2 42990225 42990225 C G rs143944527 OXER1 Nonsynonymous SNV Q365H 0.009 0.013 0.01 4 11 5 0.01 3 0 0 0 0 22.9 75731 chr12 124798810 124798810 C T rs372026151 RFLNA, ZNF664-RFLNA Synonymous SNV T130T 0 0.005 0 0 0 2 0 0 0 0 0 0 10.19 75732 chr12 124831206 124831206 C T rs778286154 NCOR2 Synonymous SNV A1411A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 18.07 75733 chr12 49444158 49444158 G C KMT2D Nonsynonymous SNV H1071Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 75734 chr12 12496033 12496033 G A MANSC1 Synonymous SNV N72N 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 5.795 75735 chr11 65793301 65793301 G A rs762526161 CATSPER1 Nonsynonymous SNV P184S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 75736 chr11 66590089 66590089 A G rs950379574 C11orf80 Nonsynonymous SNV I340V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.352 75737 chr2 46234641 46234641 A G rs41281465 PRKCE Synonymous SNV S368S 0.012 0.008 0 2 14 3 0.005 0 0 0 0 0 Benign 10.45 75738 chr11 67290028 67290028 C T rs758423379 CABP2 Nonsynonymous SNV A68T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.2 75739 chr4 39257474 39257474 A G rs201354264 WDR19 Nonsynonymous SNV E843G 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 22 75740 chr12 50746233 50746233 G - rs572633878 FAM186A P1461Lfs*71 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 75741 chr11 5730676 5730676 T G rs370495523 TRIM22 Nonsynonymous SNV L428W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 75742 chr4 39482627 39482627 T C rs2276893 LOC401127 0 0 0.051 0 0 0 0 15 0 0 1 0 7.071 75743 chr4 39699923 39699923 G A rs528595339 UBE2K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 75744 chr2 155555878 155555878 C T rs3111033 KCNJ3 Synonymous SNV S197S 0.005 0.003 0.02 7 6 1 0.018 6 0 0 0 0 16.16 75745 chr11 67007725 67007725 C G rs761347077 KDM2A Nonsynonymous SNV P16R 0.005 0.008 0 6 6 3 0.015 0 0 0 0 0 10.27 75746 chr2 158165232 158165232 C T rs143599667 GALNT5 Nonsynonymous SNV P892S 0.014 0.005 0.02 7 16 2 0.018 6 0 0 0 0 22.5 75747 chr2 49189938 49189938 T C rs752516112 FSHR Synonymous SNV S648S 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.019 75748 chr4 40434716 40434716 G A RBM47 Synonymous SNV A429A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.392 75749 chr12 51695839 51695839 T C rs143984628 BIN2 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 75750 chr2 160042380 160042380 C T rs79672338 TANC1 Synonymous SNV G662G 0.01 0.005 0.02 1 12 2 0.003 6 0 0 0 0 16.5 75751 chr2 160076227 160076227 A G rs144753108 TANC1 Nonsynonymous SNV K975R 0.003 0.003 0.02 0 3 1 0 6 0 0 0 0 24.8 75752 chr4 437909 437909 T C rs115278773 ZNF721 Nonsynonymous SNV K116R 0.008 0.021 0.007 8 9 8 0.021 2 0 0 0 0 11.01 75753 chr12 52627392 52627392 C A KRT7 Synonymous SNV S104S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.76 75754 chr2 160801542 160801542 C A PLA2R1 Nonsynonymous SNV G1338V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 75755 chr4 4787551 4787551 G C rs2933587 LOC101928279 0 0 0.289 0 0 0 0 85 0 0 39 0 0.635 75756 chr12 133383835 133383837 CTC - GOLGA3 E406del 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 75757 chr12 21200073 21200073 A G SLCO1B7 Nonsynonymous SNV I306V 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 3.692 75758 chr2 163360961 163360961 C T rs140283570 KCNH7 Nonsynonymous SNV V367M 0.009 0.005 0.014 2 11 2 0.005 4 0 0 0 0 28.8 75759 chr12 133732512 133732512 A G rs11147259 ZNF10 Nonsynonymous SNV Q227R 0.032 0.042 0.017 11 38 16 0.028 5 0 0 0 0 8.61 75760 chr2 65216842 65216842 C T rs201175768 SLC1A4 Nonsynonymous SNV P22L 0.01 0.023 0.017 0 12 9 0 5 0 0 0 0 Uncertain significance 17.29 75761 chr12 21918667 21918667 G A rs72554071 KCNJ8 Nonsynonymous SNV S422L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign/Likely benign 16.5 75762 chr12 21958186 21958187 TA - rs778425119 ABCC9 L1524Cfs*4 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 75763 chr12 21958188 21958188 - TTT rs771500892 ABCC9 I1523_L1524insK 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 75764 chr12 52963660 52963660 C G rs148117339 KRT74 Nonsynonymous SNV G373R 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 23.3 75765 chr12 22678589 22678589 A G C2CD5 Synonymous SNV L134L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.25 75766 chr4 5527115 5527115 - T rs11426893 LINC01587 0 0 0.095 0 0 0 0 28 0 0 0 0 75767 chr4 56212577 56212577 C T SRD5A3 Nonsynonymous SNV A25V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 75768 chr12 52992744 52992744 G A rs61740873 KRT72 Synonymous SNV D193D 0.009 0.005 0.007 0 11 2 0 2 0 0 0 0 9.753 75769 chr12 15134353 15134353 A G rs2230872 PDE6H Synonymous SNV P65P 0.024 0.023 0.017 16 28 9 0.041 5 1 0 0 0 Benign 7.034 75770 chr12 16347327 16347327 G T rs117728539 SLC15A5 Nonsynonymous SNV A515E 0.015 0.018 0.014 7 18 7 0.018 4 0 0 0 0 27.4 75771 chr12 53073801 53073815 CCACCAAAGCCACCA - rs527241748 KRT1 F109_G113del 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 75772 chr11 57322043 57322043 C T rs2234408 UBE2L6 Synonymous SNV P59P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.27 75773 chr12 53088479 53088479 T C KRT77 Synonymous SNV A337A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.053 75774 chr11 57479502 57479502 C G rs376584624 MED19 Synonymous SNV T67T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.04 75775 chr11 74421894 74421894 T C rs139611565 CHRDL2 Synonymous SNV T79T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 75776 chr2 169814519 169814519 C T rs200087122 ABCB11 Synonymous SNV G766G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.29 75777 chr11 61017174 61017174 T C PGA5 Synonymous SNV A269A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.147 75778 chr2 170060750 170060750 C T rs145201961 LRP2 Nonsynonymous SNV V2583M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.03 75779 chr4 6086694 6086694 - A rs56874913 JAKMIP1 0 0 0.007 0 0 0 0 2 0 0 1 0 75780 chr4 62758584 62758584 A C ADGRL3 Nonsynonymous SNV E491A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 75781 chr12 32134912 32134912 A G rs77532308 RESF1 Synonymous SNV K341K 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 0.057 75782 chr4 6588882 6588882 T C rs781181349 MAN2B2 Nonsynonymous SNV M184T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 75783 chr11 74907721 74907721 C T rs61555831 SLCO2B1 Synonymous SNV S388S 0.007 0.008 0.014 5 8 3 0.013 4 0 0 0 0 14.73 75784 chr4 6598944 6598944 C T rs143942569 MAN2B2 Nonsynonymous SNV R337C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 27.5 75785 chr12 33031883 33031883 G T rs139215336 PKP2 Nonsynonymous SNV P103T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.19 75786 chr11 75694549 75694549 A C rs61749241 UVRAG Nonsynonymous SNV Q273P 0.012 0 0.007 2 14 0 0.005 2 0 0 0 0 23.6 75787 chr11 6232251 6232251 A C rs372251988 C11orf42 Synonymous SNV S327S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.001 75788 chr2 84670490 84670490 C T rs143030960 SUCLG1 Nonsynonymous SNV G79D 0.008 0.01 0.014 2 9 4 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 32 75789 chr4 68567025 68567025 T G rs28653581 UBA6-AS1 0 0 0.221 0 0 0 0 65 0 0 7 0 12.02 75790 chr12 55354987 55354987 T G rs114438533 TESPA1 Nonsynonymous SNV H302P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.353 75791 chr4 68586267 68586267 G C rs17635222 UBA6-AS1 0 0 0.228 0 0 0 0 67 0 0 8 0 9.834 75792 chr12 55359854 55359854 G T rs61733028 TESPA1 Synonymous SNV T5T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.58 75793 chr12 55368339 55368339 G A rs113518906 TESPA1 Nonsynonymous SNV A3V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 75794 chr2 179426219 179426219 T C rs72648221 TTN Nonsynonymous SNV M19149V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.873 75795 chr11 58979393 58979393 G A rs11229878 MPEG1 Nonsynonymous SNV P316S 0.015 0.003 0.01 4 18 1 0.01 3 0 0 0 0 6.131 75796 chr2 179436257 179436257 T C rs72646898 TTN Nonsynonymous SNV I15803V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.11 75797 chr2 179449131 179449131 G A rs13021201 TTN Nonsynonymous SNV S12651L 0.025 0.018 0.01 6 29 7 0.015 3 0 0 0 0 Benign/Likely benign 22.9 75798 chr12 42748968 42748968 A C rs141677892 PPHLN1 Nonsynonymous SNV E26D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.02 75799 chr2 179500777 179500777 C T rs201257644 TTN Nonsynonymous SNV D4776N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 75800 chr2 86378518 86378518 C T rs61731709 IMMT Nonsynonymous SNV E434K 0.002 0.013 0.01 0 2 5 0 3 0 0 0 0 Likely benign 34 75801 chr12 29659798 29659798 C T rs79931373 TMTC1 Nonsynonymous SNV R877Q 0.009 0.016 0.017 9 11 6 0.023 5 0 0 0 1 23.5 75802 chr2 179597242 179597242 C A rs72648940 TTN Nonsynonymous SNV D4272Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.94 75803 chr11 78413334 78413334 C T rs375681722 TENM4 Nonsynonymous SNV A1442T 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 33 75804 chr2 179612511 179612511 G A rs148105798 TTN Synonymous SNV S4872S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.116 75805 chr11 63137529 63137529 A G rs757665315 SLC22A9 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 75806 chr12 56827880 56827880 - T TIMELESS Stop gain Y25* 0 0.003 0 0 0 1 0 0 0 0 0 0 75807 chr11 8060566 8060566 G A rs55648406 TUB Nonsynonymous SNV R49Q 0.017 0.016 0 8 20 6 0.021 0 0 0 0 0 Benign 31 75808 chr11 60535105 60535105 G A rs76307175 MS4A15 Nonsynonymous SNV V16I 0.006 0.005 0.01 6 7 2 0.015 3 0 0 0 0 16.43 75809 chr12 48458991 48458991 G A rs768158385 SENP1 Nonsynonymous SNV R378W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 75810 chr12 57485028 57485028 C T rs151285788 NAB2 Synonymous SNV D68D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 14.28 75811 chr11 82876726 82876726 C A rs57047054 PCF11 Nonsynonymous SNV P263T 0.007 0.008 0.003 5 8 3 0.013 1 0 0 0 0 0.074 75812 chr11 82935963 82935963 C T rs77458774 ANKRD42 Nonsynonymous SNV A218V 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 9.338 75813 chr12 57600463 57600463 C T rs367719136 LRP1 Nonsynonymous SNV A3933V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 75814 chr11 82938790 82938790 T G rs79522535 ANKRD42 Synonymous SNV T263T 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 13.25 75815 chr4 77100837 77100837 C T rs147159813 SCARB2 Nonsynonymous SNV V149M 0.002 0.005 0.014 0 2 2 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 5.67 75816 chr2 186653502 186653502 G A rs200379609 FSIP2 Nonsynonymous SNV D547N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 75817 chr11 86118683 86118683 C A rs61736174 CCDC81 Nonsynonymous SNV H213Q 0.025 0.021 0.02 9 29 8 0.023 6 1 0 0 0 0.712 75818 chr11 86126337 86126337 T G rs35587986 CCDC81 Nonsynonymous SNV L468R 0.025 0.021 0.017 9 29 8 0.023 5 1 0 0 0 32 75819 chr12 49087961 49087961 T G rs774159319 CCNT1 Nonsynonymous SNV T346P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.059 75820 chr12 50471051 50471051 C T rs777917966 ASIC1 Nonsynonymous SNV P239L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 33 75821 chr11 8936464 8936464 T C rs35131475 AKIP1 Nonsynonymous SNV I105T 0.033 0.034 0.027 14 39 13 0.036 8 2 0 0 0 0.001 75822 chr4 79856295 79856295 T C rs531911343 PAQR3 Nonsynonymous SNV I110V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.87 75823 chr11 8953721 8953721 T C rs34856936 C11orf16 Synonymous SNV A45A 0.034 0.034 0.027 15 40 13 0.038 8 2 0 0 0 0.021 75824 chr12 51126212 51126212 G A rs200282822 DIP2B Nonsynonymous SNV V1292I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 2.413 75825 chr12 64878200 64878200 C T rs143590388 TBK1 Synonymous SNV F370F 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 Benign 12.23 75826 chr4 8220029 8220029 G A rs1281138 SH3TC1 Nonsynonymous SNV D215N 0.007 0.021 0.02 5 8 8 0.013 6 0 0 0 0 8.303 75827 chr11 9068979 9068979 A G rs72550808 SCUBE2 Synonymous SNV A487A 0.026 0.023 0.017 13 30 9 0.033 5 1 0 0 0 5.955 75828 chr12 52448409 52448409 C T rs61751612 NR4A1 Synonymous SNV A99A 0.032 0.031 0.024 8 38 12 0.021 7 0 0 0 0 13.74 75829 chr11 9090984 9090984 T C rs35115539 SCUBE2 Synonymous SNV P192P 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 6.146 75830 chr12 6630988 6630988 A G rs17725914 NCAPD2 Nonsynonymous SNV K580R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 6.389 75831 chr2 191364898 191364898 A C rs145686170 MFSD6 Nonsynonymous SNV E777A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 75832 chr11 62381850 62381850 C G rs769675868 ROM1 Synonymous SNV P237P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 75833 chr2 192701265 192701265 T C rs116274727 CAVIN2 Nonsynonymous SNV E221G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.7 75834 chr12 69103039 69103039 A T rs61756065 NUP107 Nonsynonymous SNV T222S 0.003 0.01 0.017 1 3 4 0.003 5 0 0 0 0 Likely benign 3.851 75835 chr12 52797617 52797617 G A rs61730590 KRT82 Nonsynonymous SNV T163I 0.009 0 0 2 11 0 0.005 0 0 0 0 0 21.3 75836 chr4 88536818 88536818 A G rs62642443 DSPP Nonsynonymous SNV N1002D 0 0 0.109 0 0 0 0 32 0 0 9 0 6.132 75837 chr4 88536869 88536886 AGTGACAGCAGCAATAGC - rs759454841 DSPP N1029_S1034del 0 0 0.255 0 0 0 0 75 0 0 34 0 75838 chr4 88537073 88537126 AGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC - DSPP N1092_S1109del 0 0 0.119 0 0 0 0 35 0 0 16 0 75839 chr4 88537152 88537232 ATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA - DSPP N1122_S1148del 0 0 0.112 0 0 0 0 33 0 0 15 0 75840 chr11 66084284 66084284 C T rs111751859 CD248 Nonsynonymous SNV S72N 0.009 0.013 0.003 5 11 5 0.013 1 0 0 0 0 3.878 75841 chr4 88537268 88537268 G A rs62651555 DSPP Nonsynonymous SNV D1152N 0 0 0.065 0 0 0 0 19 0 0 8 0 13.72 75842 chr11 66101609 66101609 C T rs776870942 RIN1 Nonsynonymous SNV A430T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.056 75843 chr12 4920524 4920524 C T rs61731170 KCNA6 Synonymous SNV G439G 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 9.409 75844 chr12 7045912 7045912 - CAGCAG ATN1 Q502_H503insQQ 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 75845 chr12 53004590 53004590 G C rs146457780 KRT73 Nonsynonymous SNV D380E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.51 75846 chr12 71533622 71533622 C T rs79443892 TSPAN8 Nonsynonymous SNV G44S 0.015 0.018 0.007 4 18 7 0.01 2 0 0 0 0 0.004 75847 chr12 102067367 102067367 G A rs757883130 MYBPC1 Nonsynonymous SNV V875M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.447 75848 chr4 91230480 91230480 T A rs72659490 CCSER1 Nonsynonymous SNV L349I 0.008 0 0.01 2 9 0 0.005 3 0 0 0 0 0.005 75849 chr12 7456992 7456992 G A rs202202065 ACSM4 Nonsynonymous SNV R22H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.429 75850 chr12 53295670 53295670 G A KRT8 Synonymous SNV L171L 0.008 0 0 2 9 0 0.005 0 0 0 0 0 10.42 75851 chr11 64332779 64332779 G T rs75933978 SLC22A11 Nonsynonymous SNV R343L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 19.03 75852 chr12 75601430 75601430 C T KCNC2 Nonsynonymous SNV A112T 0 0.003 0 0 0 1 0 0 0 0 0 0 33 75853 chr2 202512471 202512471 T C rs74421079 MPP4 Synonymous SNV K554K 0.003 0.01 0.01 2 3 4 0.005 3 0 0 0 0 0.844 75854 chr11 64497613 64497613 G C rs140514685 RASGRP2 Nonsynonymous SNV S489C 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Likely benign 24 75855 chr11 67412809 67412809 G A rs746720770 ACY3 Nonsynonymous SNV R159W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 75856 chr12 78225299 78225299 G A rs61754235 NAV3 Nonsynonymous SNV V20M 0.015 0.013 0.01 8 18 5 0.021 3 0 0 0 0 20.6 75857 chr12 105464429 105464429 A G ALDH1L2 Nonsynonymous SNV I116T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 75858 chr2 202967751 202967751 A G rs755350994 KIAA2012 Nonsynonymous SNV N413S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 75859 chr5 101572675 101572675 A T rs373521889 SLCO4C1 Nonsynonymous SNV F688I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 75860 chr12 80661098 80661098 C T rs199855270 OTOGL Nonsynonymous SNV S810L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21.4 75861 chr12 80714360 80714360 A G OTOGL Nonsynonymous SNV S1312G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 75862 chr2 206869953 206869953 C T rs202133649 INO80D Synonymous SNV L741L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.967 75863 chr5 1073802 1073802 C A rs547552720 SLC12A7 Synonymous SNV S729S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 75864 chr12 52635288 52635288 C T rs377014578 KRT7 Synonymous SNV D242D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.714 75865 chr11 68748234 68748234 G A rs145975222 MRGPRD Synonymous SNV L74L 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 7.263 75866 chr12 105151387 105151387 G A rs150778990 CHST11 Nonsynonymous SNV V284I 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 16.15 75867 chr11 64812857 64812857 G A rs35124799 NAALADL1 Synonymous SNV A703A 0.044 0.018 0.037 21 52 7 0.054 11 1 0 0 0 9.287 75868 chr12 55356517 55356517 G A rs79969168 TESPA1 Nonsynonymous SNV P180S 0.01 0.01 0.017 6 12 4 0.015 5 0 0 0 0 1.657 75869 chr11 64882441 64882441 G A rs33981236 TM7SF2 Synonymous SNV A260A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.52 75870 chr11 68854652 68854652 A G rs759079153 TPCN2 Nonsynonymous SNV M720V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 75871 chr11 65307588 65307588 G A rs773279346 LTBP3 Nonsynonymous SNV P1094L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.9 75872 chr12 88383120 88383120 G A rs144364566 C12orf50 Synonymous SNV V207V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.49 75873 chr12 109629676 109629676 G A rs199632157 ACACB Nonsynonymous SNV G774R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.7 75874 chr5 112174139 112174139 C T APC Nonsynonymous SNV P932S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.63 75875 chr12 89916781 89916781 G T rs139995124 GALNT4, POC1B-GALNT4 Nonsynonymous SNV Q516K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.27 75876 chr12 52985313 52985313 G A rs73320351 KRT72 Nonsynonymous SNV R300C 0.011 0.008 0.014 2 13 3 0.005 4 0 0 0 0 27.6 75877 chr5 112403789 112403789 C T rs779215465 MCC Nonsynonymous SNV G483R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 75878 chr11 65487516 65487516 C A rs61736590 RNASEH2C Synonymous SNV A156A 0.009 0.003 0.01 2 10 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 19.87 75879 chr2 210642087 210642087 C T rs146163378 UNC80 Nonsynonymous SNV T135I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 18.47 75880 chr12 111089112 111089112 C T rs754543385 HVCN1 Nonsynonymous SNV D165N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 75881 chr5 114499306 114499306 G A rs139866682 TRIM36 Synonymous SNV N57N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.27 75882 chr5 114916629 114916629 C T TICAM2, TMED7-TICAM2 Nonsynonymous SNV G109R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 75883 chr5 115811273 115811273 C T rs17432496 SEMA6A Nonsynonymous SNV R559H 0.019 0.026 0.01 3 22 10 0.008 3 0 0 0 0 23 75884 chr2 153004816 153004816 - A rs759745408 STAM2 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 75885 chr5 118456702 118456702 T A rs200328610 DMXL1 Nonsynonymous SNV S324T 0 0 0.003 0 0 0 0 1 0 0 0 0 21 75886 chr11 6566210 6566210 C T rs189772244 DNHD1 Synonymous SNV S1347S 0.007 0.013 0.003 4 8 5 0.01 1 0 0 0 0 Benign 13.9 75887 chr12 109968427 109968427 C T rs12679 UBE3B Synonymous SNV S962S 0.009 0.016 0.014 6 11 6 0.015 4 0 0 0 0 14.53 75888 chr12 111856304 111856304 C T SH2B3 Nonsynonymous SNV R119C 0.01 0.003 0 7 12 1 0.018 0 0 0 0 0 24.9 75889 chr12 111923594 111923594 G A rs142462470 ATXN2 Nonsynonymous SNV P665S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 75890 chr11 71724989 71724989 G A rs749408043 NUMA1 Nonsynonymous SNV S1187L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.89 75891 chr2 217315664 217315664 C T rs2066526 SMARCAL1 Synonymous SNV D649D 0.053 0.042 0.027 11 62 16 0.028 8 2 1 0 0 Benign 12.89 75892 chr12 53453256 53453256 C T rs748095435 TNS2 Nonsynonymous SNV R621W 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 28.4 75893 chr12 53591647 53591647 T A rs7972747 ITGB7 Nonsynonymous SNV E97V 0.031 0.031 0.024 10 36 12 0.026 7 0 0 0 0 15.59 75894 chr12 53594124 53594124 C T rs61730602 ITGB7 Nonsynonymous SNV R35Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.74 75895 chr5 126113260 126113260 G A rs755396585 LMNB1 Synonymous SNV T20T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 11.01 75896 chr11 6585296 6585296 A G DNHD1 Nonsynonymous SNV K3409R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.494 75897 chr11 73360114 73360114 G A rs372276436 PLEKHB1 Nonsynonymous SNV G7S 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 33 75898 chr11 66061946 66061946 G A rs202127682 TMEM151A Nonsynonymous SNV A77T 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 1.292 75899 chr12 11150058 11150058 A G rs200433231 TAS2R20 Synonymous SNV F139F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.003 75900 chr11 66260629 66260629 C T DPP3 Synonymous SNV T395T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.44 75901 chr12 111885591 111885591 C T rs74163668 SH2B3 Synonymous SNV V254V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.48 75902 chr2 219545347 219545347 T C rs55839518 STK36 Synonymous SNV D386D 0.019 0.016 0.01 0 22 6 0 3 0 0 0 0 Benign/Likely benign 0.013 75903 chr2 160808076 160808076 G A rs72954858 PLA2R1 Synonymous SNV H1105H 0.019 0.013 0.003 10 22 5 0.026 1 0 0 0 0 0.099 75904 chr11 67200661 67200661 C T rs55701522 RPS6KB2 Synonymous SNV L258L 0.009 0.003 0.003 8 11 1 0.021 1 0 0 0 0 11.63 75905 chr11 67202160 67202160 C T rs566682687 RPS6KB2 Synonymous SNV P421P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.15 75906 chr11 74873755 74873763 CACAGAAAA - rs60113013 SLCO2B1 E4_T6del 0.009 0.01 0.017 6 11 4 0.015 5 0 0 0 0 75907 chr13 101167692 101167692 T C rs761693565 PCCA Synonymous SNV N563N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.9 75908 chr13 101710353 101710353 C T rs199629052 NALCN Nonsynonymous SNV R1625Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 75909 chr11 76255843 76255843 T C rs201533688 EMSY Nonsynonymous SNV S1085P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 75910 chr5 135277503 135277503 G A rs31546 FBXL21P 0 0 0.405 0 0 0 0 119 0 0 50 0 2.003 75911 chr12 56089344 56089344 A G rs7971022 ITGA7 Synonymous SNV C207C 0.01 0.013 0.014 2 12 5 0.005 4 0 0 0 0 Benign 7.536 75912 chr5 137089075 137089075 - CCG rs758261791 HNRNPA0 G230_Y231insG 0.001 0 0.007 0 1 0 0 2 0 0 0 0 75913 chr2 220337690 220337690 G A rs34994343 SPEG Nonsynonymous SNV R1340Q 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 Benign 25 75914 chr2 220352984 220352984 C T rs77314619 SPEG Nonsynonymous SNV L2604F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 75915 chr12 56231357 56231357 T C rs17844804 MMP19 Synonymous SNV Q390Q 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 0.295 75916 chr2 220379544 220379544 T C rs116598338 ASIC4 Nonsynonymous SNV V160A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 0.003 75917 chr12 659008 659008 C T rs144196893 B4GALNT3 Synonymous SNV N309N 0.003 0 0 0 3 0 0 0 0 0 0 0 10.58 75918 chr2 220404927 220404927 G A rs149456271 CHPF Synonymous SNV V340V 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 9.197 75919 chr2 220413912 220413912 C T rs148944770 TMEM198 Nonsynonymous SNV R261W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 75920 chr5 137801684 137801686 CAG - rs781705523 EGR1 S84del 0 0 0.003 0 0 0 0 1 0 0 0 0 75921 chr5 137803462 137803485 TACCCGTCCCCGGTTGCTACCTCT - rs759468344 EGR1 A447_V454del 0 0 0.01 0 0 0 0 3 0 0 0 0 75922 chr2 220421320 220421320 C T rs147543583 OBSL1 Nonsynonymous SNV V1398I 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.102 75923 chr12 66786269 66786269 C T rs200863167 GRIP1 Synonymous SNV S709S 0.009 0.01 0.014 5 11 4 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 16.91 75924 chr11 77727937 77727937 C T rs141944721 KCTD14 Nonsynonymous SNV R157H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 75925 chr11 6977710 6977710 G A rs755380132 ZNF215 Nonsynonymous SNV R263K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.87 75926 chr13 108862342 108862346 TCTTT - rs772226399 LIG4 K424Rfs*20 0 0.003 0.003 0 0 1 0 1 0 0 0 0 75927 chr12 6933220 6933220 C G GPR162 Synonymous SNV L52L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 2.889 75928 chr5 140625652 140625652 A C PCDHB15 Nonsynonymous SNV N169T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.687 75929 chr11 7949964 7949964 C T rs547542618 OR10A6 Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 75930 chr2 225750874 225750874 C T rs201155796 DOCK10 Nonsynonymous SNV G167E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 75931 chr13 111142112 111142112 G A rs184812559 COL4A2 Nonsynonymous SNV R1109Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 12.74 75932 chr12 122386966 122386966 G T rs151062299 WDR66 Nonsynonymous SNV W423L 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 27.4 75933 chr11 721147 721147 G A rs904131729 EPS8L2 Nonsynonymous SNV G214D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.01 75934 chr12 123466122 123466122 A G ARL6IP4 Synonymous SNV S44S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.88 75935 chr12 123798204 123798204 T C rs757989466 SBNO1 Synonymous SNV V1061V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.988 75936 chr12 6435693 6435693 C T rs145818347 PLEKHG6 Nonsynonymous SNV P510S 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 25.7 75937 chr5 147469113 147469113 G A rs35121983 SPINK5 Synonymous SNV R177R 0.023 0.021 0.027 12 27 8 0.031 8 0 0 0 0 Benign/Likely benign 13.68 75938 chr11 74207954 74207954 C T rs75838919 LOC100287896 Nonsynonymous SNV R2C 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 4.931 75939 chr12 6626623 6626623 G A rs71584848 NCAPD2 Synonymous SNV Q426Q 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign 11.62 75940 chr13 20763686 20763686 C - rs80338939 GJB2 G12Vfs*2 0.008 0.01 0.02 3 9 4 0.008 6 0 0 0 0 75941 chr5 148715247 148715247 G A rs150030700 AFAP1L1 Nonsynonymous SNV V716I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.17 75942 chr2 233633295 233633295 C T rs146797648 KCNJ13 Nonsynonymous SNV S150N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 16.51 75943 chr11 8951053 8951053 G A rs149239509 C11orf16 Synonymous SNV H65H 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 3.723 75944 chr11 8953795 8953795 G T rs147009902 C11orf16 Nonsynonymous SNV L21M 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 22.6 75945 chr13 21746643 21746643 - CG rs777180552 SKA3 Frameshift insertion D56Rfs*22 0.023 0.029 0.024 11 27 11 0.028 7 0 0 0 0 75946 chr13 21955635 21955635 C T rs77107022 ZDHHC20 Nonsynonymous SNV R270H 0.02 0.021 0.01 8 23 8 0.021 3 0 0 0 0 22.7 75947 chr2 234357944 234357944 C T rs113483143 DGKD Nonsynonymous SNV R560W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 75948 chr11 92085341 92085341 G T rs202154237 FAT3 Synonymous SNV L21L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.01 75949 chr12 124401117 124401117 C T rs61749063 DNAH10 Synonymous SNV N3494N 0.011 0.016 0.017 4 13 6 0.01 5 0 0 0 0 8.863 75950 chr12 130926818 130926818 T A rs78067928 RIMBP2 Nonsynonymous SNV N343I 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 2.782 75951 chr12 124401172 124401172 G A rs61740383 DNAH10 Nonsynonymous SNV D3513N 0.011 0.016 0.017 4 13 6 0.01 5 0 0 0 0 33 75952 chr12 124409630 124409630 G T rs74845458 DNAH10 Nonsynonymous SNV V3816F 0.011 0.016 0.017 4 13 6 0.01 5 0 0 0 0 0.094 75953 chr11 92622389 92622389 T C rs199685351 FAT3 Synonymous SNV N4362N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.499 75954 chr12 131311749 131311749 A C rs137928907 STX2 Nonsynonymous SNV F32V 0.009 0.01 0 4 11 4 0.01 0 0 1 0 0 24.7 75955 chr11 76832987 76832987 C T rs151286594 CAPN5 Nonsynonymous SNV R499C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 18.36 75956 chr11 93430158 93430158 C A rs71480689 CEP295 Nonsynonymous SNV R694S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.004 75957 chr13 25264516 25264516 C A rs141275215 ATP12A Nonsynonymous SNV P196H 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 23.8 75958 chr13 25272833 25272833 G A rs41288280 ATP12A Nonsynonymous SNV R523H 0.028 0.031 0.003 8 33 12 0.021 1 1 1 0 1 22.5 75959 chr2 234959703 234959703 G T rs150764101 SPP2 Synonymous SNV P58P 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 Benign 11.28 75960 chr13 28626716 28626716 C T rs146030737 FLT3 Nonsynonymous SNV V194M 0.009 0.005 0.007 8 10 2 0.021 2 0 0 0 0 Benign 20.3 75961 chr12 130841561 130841561 G A rs1106041 PIWIL1 Synonymous SNV T501T 0.007 0.016 0 0 8 6 0 0 0 0 0 0 9.196 75962 chr5 154065348 154065348 T C rs77055126 MIR1303 0 0 0.024 0 0 0 0 7 0 0 0 0 1.571 75963 chr12 101573812 101573812 A G rs61738704 SLC5A8 Synonymous SNV L410L 0.031 0.039 0.02 8 36 15 0.021 6 0 0 0 0 8.997 75964 chr5 154065383 154065383 A T rs75538180 MIR1303 0 0 0.102 0 0 0 0 30 0 0 2 0 0.973 75965 chr5 154135386 154135386 G A rs78112077 LARP1 Synonymous SNV G23G 0.028 0.01 0.051 13 33 4 0.033 15 5 1 3 4 10.99 75966 chr2 238725833 238725833 A G rs73086770 RBM44 Nonsynonymous SNV S92G 0.009 0.005 0.014 0 11 2 0 4 0 0 0 0 14.9 75967 chr11 82641312 82641312 T C rs138860115 DDIAS Nonsynonymous SNV V130A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 75968 chr11 85347204 85347204 A T TMEM126B Synonymous SNV G162G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.116 75969 chr5 15936694 15936694 C T rs202118294 FBXL7 Nonsynonymous SNV T245I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 20.7 75970 chr5 15937010 15937010 C T rs61748187 FBXL7 Synonymous SNV L350L 0.027 0.026 0.044 7 32 10 0.018 13 0 0 0 0 14.68 75971 chr12 133425243 133425243 G A rs189987561 CHFR Synonymous SNV C440C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.85 75972 chr2 190331223 190331223 A G rs751318112 WDR75 Synonymous SNV E454E 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 5.169 75973 chr13 36900828 36900828 T C rs148833652 SPART Nonsynonymous SNV D391G 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.37 75974 chr2 241439525 241439525 G A rs149558313 ANKMY1 Nonsynonymous SNV R576C 0.003 0.005 0.017 0 3 2 0 5 0 0 0 0 25.9 75975 chr2 241569745 241569745 G A rs61734453 GPR35 Nonsynonymous SNV G126R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 0.016 75976 chr5 163586 163586 G A rs114604004 PLEKHG4B Synonymous SNV P1133P 0 0.005 0.02 0 0 2 0 6 0 0 0 0 5.597 75977 chr12 99020125 99020125 T C rs61756485 IKBIP Synonymous SNV E239E 0.023 0.005 0.01 7 27 2 0.018 3 0 0 1 0 0.008 75978 chr2 191849042 191849042 G T rs140351189 STAT1 Nonsynonymous SNV D447E 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.12 75979 chr2 191856001 191856001 C T rs41509946 STAT1 Synonymous SNV Q330Q 0.012 0.01 0.007 3 14 4 0.008 2 1 0 0 0 Benign/Likely benign 15.35 75980 chr11 92573911 92573911 G A rs10765565 FAT3 Nonsynonymous SNV V3518M 0.006 0 0.007 4 7 0 0.01 2 0 0 0 0 17.09 75981 chr5 168180047 168180047 C T rs34260167 SLIT3 Nonsynonymous SNV S629N 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 22.3 75982 chr2 196892695 196892695 T C rs62203391 DNAH7 Nonsynonymous SNV K159E 0.047 0.057 0.054 10 55 22 0.026 16 0 0 1 0 14.33 75983 chr2 241930672 241930672 C T rs778605698 CROCC2 Synonymous SNV L1641L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.303 75984 chr13 42295659 42295659 G A rs61756560 VWA8 Synonymous SNV L937L 0.006 0.013 0.003 6 7 5 0.015 1 0 0 0 0 Benign 10.76 75985 chr11 93466722 93466722 T C rs186098182 SNORA18 0.012 0.023 0.014 4 14 9 0.01 4 0 0 0 0 0.278 75986 chr13 42740666 42740666 C A rs61756564 DGKH Nonsynonymous SNV T80K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 75987 chr13 45148261 45148261 T C rs189273581 TSC22D1 Synonymous SNV Q650Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 75988 chr2 242757391 242757391 G C NEU4 Nonsynonymous SNV A171P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 75989 chr12 21968726 21968726 C T rs200350065 ABCC9 Nonsynonymous SNV V1332I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.6 75990 chr13 108518686 108518686 - CTG rs775886294 FAM155A Q86_R87insQ 0.016 0.026 0.027 19 19 10 0.049 8 0 1 0 0 75991 chr2 202591249 202591249 C T rs200706696 ALS2 Nonsynonymous SNV G1069E 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 75992 chr13 109562437 109562437 A C rs61743216 MYO16 Nonsynonymous SNV M622L 0.016 0.021 0.024 5 19 8 0.013 7 0 0 0 0 3.988 75993 chr13 110435406 110435406 C T rs35927012 IRS2 Nonsynonymous SNV V999M 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 19.43 75994 chr12 91347643 91347643 C T rs78240650 CCER1 Nonsynonymous SNV E293K 0.021 0.031 0.017 17 25 12 0.044 5 0 1 0 1 12.02 75995 chr2 202672598 202672598 T G CDK15 Nonsynonymous SNV F97L 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23.6 75996 chr12 91396247 91396247 G T rs76171854 EPYC Synonymous SNV T32T 0.016 0.026 0.01 16 19 10 0.041 3 0 1 0 1 6.584 75997 chr12 91545513 91545513 G A rs3138268 DCN Nonsynonymous SNV T121M 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 Benign 14.42 75998 chr12 91558424 91558424 G A rs3138221 DCN Synonymous SNV T94T 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 Benign 7.911 75999 chr13 48985975 48985975 A G rs2233573 LPAR6 Synonymous SNV I195I 0.011 0.005 0.003 9 13 2 0.023 1 0 0 0 0 Benign 1.309 76000 chr13 49027203 49027203 T C rs145310579 RB1 Synonymous SNV C590C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.677 76001 chr13 49281101 49281101 T G rs143085034 CYSLTR2 Nonsynonymous SNV F50V 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 Likely benign 0.016 76002 chr13 49281261 49281261 A G rs116932219 CYSLTR2 Nonsynonymous SNV N103S 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 Likely benign 0.001 76003 chr5 176824920 176824920 A C SLC34A1 Nonsynonymous SNV Y518S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 76004 chr13 49281785 49281785 T A rs138722135 CYSLTR2 Nonsynonymous SNV L278I 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 Likely benign 0.026 76005 chr12 113379509 113379509 G A rs116951660 OAS3 Synonymous SNV S104S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.902 76006 chr5 177613296 177613296 C T rs13184677 GMCL2 Synonymous SNV R335R 0 0 0.18 0 0 0 0 53 0 0 3 0 6.056 76007 chr12 95416164 95416164 T A rs199899060 NR2C1 Synonymous SNV L551L 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 4.427 76008 chr5 177649395 177649395 C T rs774791401 PHYKPL Synonymous SNV A255A 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 14.17 76009 chr13 114060174 114060174 C T rs566396575 LOC101928841 Synonymous SNV A777A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.406 76010 chr13 72440659 72440673 GCCGCCGCCGCCGCC - rs782625726 DACH1 G79_G81del 0.014 0.018 0 6 16 7 0.015 0 2 2 0 2 76011 chr12 33559874 33559874 T C SYT10 Synonymous SNV L309L 0.004 0 0 0 5 0 0 0 0 0 0 0 0.861 76012 chr12 3131088 3131088 C T rs141718322 TEAD4 Nonsynonymous SNV R139C 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 26.3 76013 chr12 103246593 103246593 G A rs5030851 PAH Nonsynonymous SNV P281L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 33 76014 chr12 40643645 40643645 C G rs200437744 LRRK2 Nonsynonymous SNV L286V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 26.4 76015 chr5 179320359 179320359 G C rs139809387 TBC1D9B Nonsynonymous SNV S229C 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 26 76016 chr3 10975849 10975849 C T rs2272400 SLC6A11 Synonymous SNV C524C 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 10.73 76017 chr13 23898636 23898636 G A rs147820869 SGCG Nonsynonymous SNV G278S 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 76018 chr13 100861639 100861639 G A rs780406346 PCCA Nonsynonymous SNV M148I 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Uncertain significance 29.1 76019 chr13 100921016 100921016 A G PCCA Nonsynonymous SNV K272R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 29 76020 chr5 180687456 180687456 A T rs774221448 TRIM52 Nonsynonymous SNV M120K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 76021 chr12 44917109 44917109 A G rs146099301 NELL2 Synonymous SNV L655L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.28 76022 chr12 108079684 108079684 G A PWP1 Nonsynonymous SNV R3H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 76023 chr12 10853915 10853915 G A YBX3 Nonsynonymous SNV P295L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 29.1 76024 chr13 25440286 25440286 C T rs780517810 RNF17 Nonsynonymous SNV P1365L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 76025 chr13 99566594 99566594 C T rs16956053 DOCK9 Synonymous SNV P317P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.65 76026 chr12 108686443 108686443 G A rs375250297 CMKLR1 Synonymous SNV A99A 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 4.754 76027 chr13 103388471 103388471 T A rs867480576 CCDC168 Nonsynonymous SNV N4859I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.05 76028 chr12 46321144 46321144 G T rs146210628 SCAF11 Synonymous SNV T780T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.002 76029 chr12 46321146 46321146 T G rs137901313 SCAF11 Nonsynonymous SNV T780P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.002 76030 chr3 14964640 14964640 G A rs775857980 FGD5 Nonsynonymous SNV E1299K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 76031 chr12 49087150 49087150 T C rs199971712 CCNT1 Nonsynonymous SNV H616R 0.004 0 0 0 5 0 0 0 0 0 0 0 23.9 76032 chr12 123444696 123444696 G A ABCB9 Synonymous SNV H29H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.999 76033 chr5 38425110 38425110 C A rs6897179 EGFLAM Nonsynonymous SNV H342N 0.02 0.01 0.014 3 24 4 0.008 4 0 0 0 0 11.67 76034 chr12 49424534 49424534 G A rs11168830 KMT2D Synonymous SNV P4563P 0.017 0.008 0.034 10 20 3 0.026 10 1 0 1 0 Benign 2.846 76035 chr5 38557725 38557725 C T rs79308552 LIFR-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 9.518 76036 chr12 110340857 110340857 A G rs773121863 TCHP Nonsynonymous SNV Y9C 0 0 0 1 0 0 0.003 0 0 0 0 0 1.408 76037 chr12 49447342 49447342 G A rs398123759 KMT2D Synonymous SNV H252H 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 0.505 76038 chr5 38952369 38952369 G A RICTOR Nonsynonymous SNV P1019L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 76039 chr13 35782905 35782905 C A rs200695994 NBEA Nonsynonymous SNV T1812N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.53 76040 chr2 233413771 233413771 C T rs6752614 TIGD1 Synonymous SNV A274A 0.063 0.052 0 31 74 20 0.079 0 30 9 0 15 15.53 76041 chr13 111367820 111367820 C T ING1 Synonymous SNV S10S 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 7.805 76042 chr14 104639422 104639422 C T rs199503701 KIF26A Nonsynonymous SNV T510M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 16.51 76043 chr13 113201850 113201864 GCATGGGAAAGTCGC - rs761295205 TUBGCP3 R413_M417del 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 76044 chr12 50747368 50747368 C A FAM186A Nonsynonymous SNV V1083L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 76045 chr14 105190782 105190782 A G rs377285572 ADSS1 Nonsynonymous SNV I59V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.254 76046 chr3 36898973 36898973 G A rs17201603 TRANK1 Nonsynonymous SNV P703L 0.009 0.008 0.01 9 11 3 0.023 3 0 0 0 0 0.054 76047 chr14 105239367 105239367 G A rs144088506 AKT1 Synonymous SNV Y340Y 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 Benign 8.257 76048 chr3 38040434 38040434 - CAC rs143137431 VILL T123_N124insT 0.013 0.013 0.027 2 15 5 0.005 8 0 0 0 0 76049 chr12 49692084 49692084 C T rs147068303 PRPH Nonsynonymous SNV S454F 0.004 0.008 0 0 5 3 0 0 0 0 0 0 33 76050 chr2 220355317 220355317 G A rs770032694 SPEG Synonymous SNV V3036V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.03 76051 chr3 38232266 38232266 A G rs141794705 OXSR1 Synonymous SNV V76V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 76052 chr12 50190206 50190206 C G rs1037553324 NCKAP5L Nonsynonymous SNV Q479H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 76053 chr12 50294963 50294963 G C rs373823686 FAIM2 Nonsynonymous SNV P54R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.176 76054 chr12 50367213 50367213 C T rs200570924 AQP6 Nonsynonymous SNV T86M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 76055 chr12 50498474 50498474 C A rs151113100 GPD1 Synonymous SNV I53I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 21.5 76056 chr13 21746637 21746637 C T rs11546983 SKA3 Nonsynonymous SNV V58I 0.016 0.013 0 10 19 5 0.026 0 0 0 0 0 21.1 76057 chr5 54319997 54319997 G A rs3822315 LOC102467081 0 0 0.119 0 0 0 0 35 0 0 4 0 0.427 76058 chr3 39170234 39170234 C T rs199882506 TTC21A Synonymous SNV L528L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.05 76059 chr14 20482919 20482919 A C rs17308108 OR4K14 Nonsynonymous SNV L145R 0.04 0.044 0.041 15 47 17 0.038 12 1 0 0 1 23.2 76060 chr5 54826310 54826310 T C rs545234539 RNF138P1 0 0 0.003 0 0 0 0 1 0 0 0 0 14 76061 chr5 54830188 54830188 T G rs2292281 RNF138P1 0 0 0.374 0 0 0 0 110 0 0 52 0 16.42 76062 chr5 55471984 55471984 A T rs150154852 ANKRD55 Nonsynonymous SNV Y103N 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 27.8 76063 chr12 121205201 121205201 A G rs200655775 SPPL3 Synonymous SNV F323F 0 0 0 1 0 0 0.003 0 0 0 0 0 2.29 76064 chr3 40571789 40571789 C T ZNF621 Synonymous SNV L81L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.72 76065 chr12 52941695 52941695 C T rs150286972 KRT71 Synonymous SNV E350E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 14.06 76066 chr5 57841921 57841921 C A rs114483705 LINC02108 0 0 0.024 0 0 0 0 7 0 0 0 0 0.437 76067 chr5 61876773 61876773 C T rs115682516 LRRC70 Nonsynonymous SNV P503L 0.011 0.008 0.02 4 13 3 0.01 6 0 0 0 0 24.1 76068 chr14 20763603 20763603 T C rs61741728 TTC5 Nonsynonymous SNV Y309C 0.009 0.01 0.014 5 11 4 0.013 4 0 0 0 0 26.1 76069 chr5 64023981 64023981 C T rs275819 SREK1IP1 Synonymous SNV K77K 0.013 0 0.16 6 15 0 0.015 47 7 0 15 2 16.87 76070 chr3 42738533 42738533 G T rs115328735 HHATL Nonsynonymous SNV P324T 0.02 0.013 0.02 0 23 5 0 6 1 0 0 0 16.76 76071 chr2 225811592 225811592 T A rs78257220 DOCK10 Nonsynonymous SNV N26I 0.092 0.104 0.061 35 108 40 0.09 18 7 1 0 3 17.04 76072 chr13 28623587 28623587 C T rs35602083 FLT3 Nonsynonymous SNV D324N 0.022 0.026 0.044 19 26 10 0.049 13 1 0 0 1 Likely benign 13.22 76073 chr12 122219007 122219007 G A rs748431923 RHOF Synonymous SNV Y106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.124 76074 chr12 1553873 1553873 A G rs148132592 ERC1 Nonsynonymous SNV Q1057R 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 9.133 76075 chr5 66441149 66441149 C G rs78130987 MAST4 Synonymous SNV A818A 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 10.34 76076 chr5 66459822 66459822 T C rs16896336 MAST4 Synonymous SNV D1344D 0.006 0.01 0.017 5 7 4 0.013 5 0 0 0 0 0.462 76077 chr12 122340926 122340926 T C PSMD9 Synonymous SNV D51D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.75 76078 chr5 66460595 66460595 G A rs56337909 MAST4 Nonsynonymous SNV S1602N 0.006 0.008 0.014 5 7 3 0.013 4 0 0 0 0 4.32 76079 chr5 66460630 66460630 T C rs55970008 MAST4 Nonsynonymous SNV W1614R 0.006 0.008 0.014 5 7 3 0.013 4 0 0 0 0 0.032 76080 chr5 66460956 66460956 C T rs55927942 MAST4 Synonymous SNV S1722S 0.006 0.008 0.01 5 7 3 0.013 3 0 0 0 0 11.95 76081 chr5 66461564 66461564 A T rs56118404 MAST4 Nonsynonymous SNV H1925L 0.006 0.01 0.014 5 7 4 0.013 4 0 0 0 0 7.944 76082 chr5 66479189 66479189 G A rs3733910 CD180 Synonymous SNV T494T 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 3.041 76083 chr3 44541782 44541782 C T rs560934859 ZNF852 Nonsynonymous SNV E163K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 76084 chr3 44926857 44926857 C T rs36081973 TGM4 Synonymous SNV N20N 0.003 0 0 0 4 0 0 0 0 0 0 0 9.199 76085 chr14 21249869 21249869 G C rs137994831 RNASE6 Nonsynonymous SNV C4S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.192 76086 chr13 76210856 76210856 G T rs780903939 LMO7 Nonsynonymous SNV W21C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 32 76087 chr13 32800073 32800073 C G rs751177739 FRY Nonsynonymous SNV T1723S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.96 76088 chr13 32839589 32839589 T C FRY Synonymous SNV A2594A 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 5.823 76089 chr12 123818747 123818747 T C rs137938431 SBNO1 Synonymous SNV L254L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.668 76090 chr5 72174432 72174432 C G rs266435 MIR4804 0 0 0.612 0 0 0 0 180 0 0 86 0 3.721 76091 chr14 21681213 21681213 C T rs61745722 HNRNPC Synonymous SNV S156S 0.025 0.029 0.02 13 29 11 0.033 6 1 0 0 1 17.71 76092 chr13 86368724 86368724 T C rs17080144 SLITRK6 Synonymous SNV K640K 0.014 0.008 0.007 6 17 3 0.015 2 0 0 0 0 Benign/Likely benign 0.003 76093 chr14 21794287 21794287 G A rs184926375 RPGRIP1 Nonsynonymous SNV A889T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.2 76094 chr12 52984730 52984730 C A rs117715179 KRT72 Nonsynonymous SNV V327F 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 23 76095 chr12 124397851 124397851 A G rs200407181 DNAH10 Synonymous SNV S3329S 0.005 0 0.003 6 6 0 0.015 1 0 0 0 0 Benign 0.023 76096 chr12 53343257 53343257 C G rs796361379 KRT18 Nonsynonymous SNV S100R 0.014 0.01 0 8 16 4 0.021 0 0 0 0 0 24.3 76097 chr12 124419920 124419920 A T rs762019033 DNAH10 Nonsynonymous SNV R4436S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 76098 chr12 53343265 53343265 C A KRT18 Nonsynonymous SNV T103N 0.011 0.005 0 5 13 2 0.013 0 0 0 0 0 22.9 76099 chr12 53343266 53343266 C T KRT18 Synonymous SNV T103T 0.01 0.003 0 4 12 1 0.01 0 0 0 0 0 19.93 76100 chr12 53343273 53343273 C T rs11551638 KRT18 Nonsynonymous SNV R106W 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24.3 76101 chr13 95816707 95816707 G A rs11568666 ABCC4 Synonymous SNV A625A 0.019 0.01 0.014 5 22 4 0.013 4 0 0 0 0 Benign 11.46 76102 chr3 46724750 46724750 C G rs368302960 ALS2CL Nonsynonymous SNV V327L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.155 76103 chr13 38237564 38237564 A G rs75514550 TRPC4 Synonymous SNV N386N 0.017 0.026 0.014 4 20 10 0.01 4 0 1 0 0 0.126 76104 chr5 75991466 75991466 A G IQGAP2 Nonsynonymous SNV Q890R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 76105 chr3 47452676 47452676 G A rs138329311 PTPN23 Nonsynonymous SNV G1004S 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.99 76106 chr12 125900086 125900086 G A TMEM132B Synonymous SNV A323A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.834 76107 chr3 47777559 47777559 C T rs148318905 SMARCC1 Nonsynonymous SNV A181T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 76108 chr5 76932829 76932829 G T OTP Synonymous SNV G88G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 76109 chr5 77656300 77656300 G C rs4072852 SCAMP1-AS1 0 0 0.207 0 0 0 0 61 0 0 13 0 7.271 76110 chr12 55641441 55641441 A G rs368227708 OR6C74 Nonsynonymous SNV I124V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 76111 chr5 7866821 7866821 T C rs16879259 FASTKD3 Nonsynonymous SNV E459G 0.015 0.016 0.01 2 18 6 0.005 3 0 1 0 0 7.957 76112 chr14 102605705 102605705 G A rs201793224 HSP90AA1 Nonsynonymous SNV P13S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.831 76113 chr5 7889216 7889216 G A rs2287779 MTRR Synonymous SNV L385L 0.014 0.016 0.01 3 17 6 0.008 3 0 1 0 0 Benign 13.3 76114 chr5 7889304 7889304 C T rs2287780 MTRR Nonsynonymous SNV R415C 0.014 0.016 0.01 3 17 6 0.008 3 0 1 0 0 Benign 23.4 76115 chr5 7891506 7891506 C G rs16879334 MTRR Nonsynonymous SNV P450R 0.014 0.016 0.007 3 17 6 0.008 2 0 1 0 0 Benign 29.6 76116 chr14 23709649 23709649 C T rs369025870 RNF212B Nonsynonymous SNV T32I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 76117 chr14 23771785 23771785 T A rs564640129 PPP1R3E Star tloss M1L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 76118 chr2 237028957 237028957 C T rs141756654 AGAP1 Nonsynonymous SNV R693W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.3 76119 chr12 53693954 53693954 C G rs139056625 C12orf10 Synonymous SNV T79T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 18.97 76120 chr13 45975241 45975241 T G rs145903350 SLC25A30 Synonymous SNV G146G 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 0.085 76121 chr12 132547094 132547096 CAG - rs878898265 EP400 Q2748del 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 76122 chr12 54105889 54105889 T G rs34281379 CALCOCO1 Nonsynonymous SNV T554P 0.003 0 0 0 3 0 0 0 0 0 0 0 15.8 76123 chr3 49293819 49293819 T G rs147025639 CCDC36 Nonsynonymous SNV W297G 0.007 0.01 0.01 3 8 4 0.008 3 0 0 0 0 0.409 76124 chr14 104026621 104026621 A T BAG5 Nonsynonymous SNV L294H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 76125 chr12 132681730 132681730 A G rs34329783 GALNT9 Synonymous SNV F212F 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 5.634 76126 chr12 54795410 54795410 A G rs73322228 ITGA5 Synonymous SNV F782F 0.014 0.016 0.02 5 17 6 0.013 6 0 0 0 0 10.54 76127 chr12 54796998 54796998 A G rs17111853 ITGA5 Synonymous SNV Y629Y 0.013 0.013 0.017 5 15 5 0.013 5 0 0 0 0 0.278 76128 chr12 132683758 132683758 G A rs61745414 GALNT9 Synonymous SNV D120D 0.009 0.005 0.01 4 11 2 0.01 3 0 0 0 0 0.395 76129 chr12 54802580 54802580 G A rs2230393 ITGA5 Synonymous SNV G217G 0.013 0.016 0.014 5 15 6 0.013 4 0 0 0 0 12.25 76130 chr14 24002125 24002125 T G rs997905033 ZFHX2 Nonsynonymous SNV Y737S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 76131 chr14 24026493 24026493 A G rs34015250 THTPA Nonsynonymous SNV H176R 0.07 0.099 0.109 28 82 38 0.072 32 0 2 2 1 3.826 76132 chr12 549793 549793 A G rs150919241 CCDC77 Nonsynonymous SNV D319G 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 23 76133 chr14 104642767 104642767 G A rs147369482 KIF26A Synonymous SNV P1214P 0.007 0 0 0 8 0 0 0 0 0 0 0 Benign 5.692 76134 chr12 133195411 133195411 C T rs186684886 P2RX2 Synonymous SNV A3A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.09 76135 chr14 24642528 24642528 G A rs377291381 REC8 Nonsynonymous SNV A124T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.505 76136 chr14 24656120 24656120 G A rs750919905 IPO4 Synonymous SNV T240T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.991 76137 chr12 133240967 133240967 G A rs5744834 POLE Synonymous SNV I850I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.45 76138 chr12 133393290 133393290 G C rs76213047 GOLGA3 Nonsynonymous SNV S81C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 76139 chr12 133393291 133393291 A G rs77231269 GOLGA3 Nonsynonymous SNV S81P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.292 76140 chr14 105222988 105222988 G A rs144031294 SIVA1 Nonsynonymous SNV V56M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.65 76141 chr12 133696901 133696902 TT - ZNF891 K535Efs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 76142 chr12 133768086 133768086 A G rs76162979 ZNF268 Synonymous SNV S15S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.24 76143 chr12 133778798 133778798 G C rs80217340 ZNF268 Nonsynonymous SNV A176P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.121 76144 chr14 24793339 24793339 G A rs142319485 ADCY4 Stop gain R659X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 76145 chr3 51749874 51749874 C T rs61729078 GRM2 Synonymous SNV V317V 0.016 0.021 0.024 11 19 8 0.028 7 0 0 1 0 8.393 76146 chr13 52520474 52520474 G A rs369620062 ATP7B Synonymous SNV A795A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 8.757 76147 chr2 241873119 241873119 A G rs541026898 CROCC2 Nonsynonymous SNV E499G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.479 76148 chr12 4662195 4662195 T C rs61755425 RAD51AP1 Synonymous SNV N201N 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.117 76149 chr12 18872514 18872514 T G rs373112515 PLCZ1 Synonymous SNV S36S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.555 76150 chr14 33015494 33015494 A G rs765013767 AKAP6 Synonymous SNV Q545Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 76151 chr14 20760148 20760148 T C TTC5 Synonymous SNV K399K 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.35 76152 chr6 10775600 10775600 G A rs567083 MAK Nonsynonymous SNV P520S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Likely benign 10.58 76153 chr3 54925426 54925426 C T rs112362995 CACNA2D3 Nonsynonymous SNV T732M 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 34 76154 chr12 2224449 2224449 G A rs34534613 CACNA1C Nonsynonymous SNV G37R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign/Likely benign 24.5 76155 chr12 66696547 66696547 G A rs148579722 HELB Nonsynonymous SNV G55D 0.011 0.005 0.003 7 13 2 0.018 1 0 0 0 0 22 76156 chr6 1101323 1101323 T C rs2076494 LINC01622 0 0 0.231 0 0 0 0 68 0 0 7 0 0.749 76157 chr14 21024817 21024817 C T rs151318768 RNASE9 Nonsynonymous SNV E138K 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.798 76158 chr12 49176699 49176699 G A rs561521194 ADCY6 Synonymous SNV P173P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.509 76159 chr14 50196233 50196233 A G rs150211112 KLHDC1 Nonsynonymous SNV Y226C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.68 76160 chr13 99091384 99091384 G T rs147648057 FARP1 Synonymous SNV T789T 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 1.32 76161 chr3 57132263 57132263 C A IL17RD Nonsynonymous SNV G490C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 76162 chr3 32031884 32031884 G A rs578237026 ZNF860 Nonsynonymous SNV R438H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.787 76163 chr6 111805978 111805978 A G rs17072723 TRAF3IP2-AS1 0 0 0.105 0 0 0 0 31 0 0 2 0 8.012 76164 chr6 111824753 111824753 G A rs6925373 TRAF3IP2-AS1 0 0 0.044 0 0 0 0 13 0 0 1 0 3.424 76165 chr12 69113184 69113184 C T rs35209116 NUP107 Synonymous SNV L354L 0.013 0.005 0.007 3 15 2 0.008 2 0 0 0 0 Benign 12.63 76166 chr6 111919105 111919105 C T rs115821671 TRAF3IP2-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 4.159 76167 chr6 111922503 111922503 G C rs76228616 TRAF3IP2-AS1 0.027 0.013 0.02 12 32 5 0.031 6 0 0 0 0 4.138 76168 chr12 26834858 26834858 G A rs2230384 ITPR2 Nonsynonymous SNV A453V 0.012 0.005 0.02 5 14 2 0.013 6 0 0 0 0 26 76169 chr6 112041022 112041022 G C rs376255649 FYN Nonsynonymous SNV T78R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 76170 chr12 49982235 49982235 A G rs746387916 FAM186B 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 76171 chr3 58376938 58376938 G A rs55962533 PXK Synonymous SNV V40V 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 12.9 76172 chr12 69986785 69986785 T C rs201962311 CCT2 Synonymous SNV S213S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.942 76173 chr14 21543073 21543073 G A rs780284964 ARHGEF40 Nonsynonymous SNV G395E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.2 76174 chr12 70003851 70003851 C T rs148566929 LRRC10 Synonymous SNV A256A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 14.73 76175 chr12 70037566 70037566 T C rs74102932 BEST3 Nonsynonymous SNV K368E 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 0.002 76176 chr12 65637193 65637193 A C rs146896083 LEMD3 Synonymous SNV S776S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.619 76177 chr3 63645410 63645410 A G rs73111385 SNTN Nonsynonymous SNV K52R 0.021 0.023 0.017 11 25 9 0.028 5 1 0 0 0 16.89 76178 chr6 116600616 116600616 C A rs61746508 TSPYL1 Nonsynonymous SNV Q126H 0.011 0.021 0.024 2 13 8 0.005 7 0 0 0 0 7.256 76179 chr3 63898547 63898547 G C rs201334618 ATXN7 Synonymous SNV L91L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 5.582 76180 chr12 7045904 7045906 CAG - ATN1 Q502del 0.01 0.018 0 4 12 7 0.01 0 0 0 0 0 76181 chr14 102675588 102675588 C T rs552056249 WDR20 Nonsynonymous SNV R300C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 32 76182 chr3 68588001 68588001 C T rs141387148 TAFA1 Synonymous SNV C118C 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 14.8 76183 chr12 51442209 51442209 G A rs150511470 LETMD1 Nonsynonymous SNV V24I 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 10.21 76184 chr3 74419073 74419073 G A rs139461362 CNTN3 Nonsynonymous SNV S243L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 24.1 76185 chr12 75444639 75444639 A G rs149433460 KCNC2 Synonymous SNV F382F 0.014 0.008 0.007 4 17 3 0.01 2 0 0 0 0 Benign 0.004 76186 chr14 56096686 56096686 A C rs74053638 KTN1 Synonymous SNV T364T 0.009 0.013 0.003 5 10 5 0.013 1 0 0 0 0 Benign 0.232 76187 chr14 56145134 56145134 T C rs115128151 KTN1 Nonsynonymous SNV I1250T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 25.8 76188 chr3 88040682 88040682 T A rs6301 HTR1F Synonymous SNV I261I 0.003 0.005 0.02 2 3 2 0.005 6 0 0 0 0 2.113 76189 chr3 89391215 89391215 G A rs56112995 EPHA3 Synonymous SNV A427A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.459 76190 chr12 70273057 70273057 G A rs529805239 MYRFL Synonymous SNV P96P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.684 76191 chr14 58598252 58598252 G C rs45483691 ARMH4 Synonymous SNV G603G 0.033 0.031 0.02 8 39 12 0.021 6 0 0 0 0 9.608 76192 chr12 3742855 3742855 G A rs149047355 CRACR2A Synonymous SNV F550F 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 76193 chr12 40634411 40634411 C T rs377217716 LRRK2 Nonsynonymous SNV A233V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 76194 chr6 125232594 125232594 C A rs781741 RNF217-AS1 0 0 0.214 0 0 0 0 63 0 0 29 0 8.529 76195 chr12 7890076 7890076 G A rs61747156 CLEC4C Synonymous SNV N110N 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.088 76196 chr12 7922649 7922649 A G rs114136506 NANOGNB Nonsynonymous SNV N58S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.143 76197 chr6 129813607 129813607 G A rs150596964 LAMA2 Synonymous SNV T2737T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.157 76198 chr6 129833587 129833587 G C LAMA2 Synonymous SNV G2975G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.974 76199 chr14 23876347 23876347 C T rs150574114 MYH6 Nonsynonymous SNV R29Q 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 Benign 22.9 76200 chr14 105609278 105609278 C T rs200439518 JAG2 Synonymous SNV P1119P 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 7.104 76201 chr3 100514684 100514684 C T rs532476362 ABI3BP Nonsynonymous SNV V1143I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 76202 chr12 76739826 76739826 A C rs1039195285 BBS10 Nonsynonymous SNV S647A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 76203 chr12 76739829 76739829 T C rs757995171 BBS10 Nonsynonymous SNV K646E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.38 76204 chr6 131179302 131179302 C G rs61731767 EPB41L2 Nonsynonymous SNV E666Q 0.016 0.005 0.027 10 19 2 0.026 8 0 0 0 0 26.8 76205 chr14 24543787 24543787 C T rs143981627 CPNE6 Synonymous SNV N182N 0.009 0 0.007 2 10 0 0.005 2 0 0 0 0 15.88 76206 chr12 85674087 85674087 A G rs116409037 ALX1 Synonymous SNV K16K 0.019 0.013 0.014 6 22 5 0.015 4 0 0 0 0 0.452 76207 chr6 132045195 132045195 C G rs143300279 ENPP3 Nonsynonymous SNV Q588E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 76208 chr6 13295753 13295753 G - rs35194435 LOC100130357 0 0 0.17 0 0 0 0 50 0 0 25 0 76209 chr14 24772373 24772373 C T rs147123517 NOP9 Nonsynonymous SNV R413C 0.012 0.01 0.003 6 14 4 0.015 1 0 0 0 0 23.8 76210 chr3 108284236 108284236 G A rs13083928 CIP2A Nonsynonymous SNV P494L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24.6 76211 chr14 24791854 24791856 GAA - rs766852715 ADCY4 F801del 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 76212 chr14 24798267 24798267 C T rs78654006 ADCY4 Synonymous SNV P508P 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 15.45 76213 chr14 24798626 24798626 T C rs780400345 ADCY4 Nonsynonymous SNV Y444C 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 25.1 76214 chr12 80189517 80189517 C T rs113668494 PPP1R12A Synonymous SNV E772E 0.01 0.018 0 5 12 7 0.013 0 0 0 0 0 Benign 14.68 76215 chr12 48440205 48440205 G A rs34698661 SENP1 Synonymous SNV D602D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.414 76216 chr12 48468159 48468159 G A rs35902603 SENP1 Synonymous SNV H296H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.12 76217 chr6 134436586 134436586 T G rs9493833 HMGA1P7 0 0 0.231 0 0 0 0 68 0 0 18 0 3.837 76218 chr6 136552492 136552492 C T rs79645194 MTFR2 Nonsynonymous SNV R360Q 0 0 0.01 0 0 0 0 3 0 0 0 0 22.8 76219 chr6 136958233 136958233 G A rs958293 LOC101928461 0 0 0.221 0 0 0 0 65 0 0 28 0 6.773 76220 chr12 48737500 48737500 A G rs113364736 ZNF641 Synonymous SNV S168S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.132 76221 chr12 80899975 80899975 A G rs780815237 PTPRQ Synonymous SNV Q643Q 0.007 0 0 2 8 0 0.005 0 0 0 0 0 1.293 76222 chr6 138644826 138644826 G A rs17067425 ARFGEF3 Synonymous SNV A1595A 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 13.35 76223 chr6 138703640 138703640 A G rs2076273 SMIM28 Nonsynonymous SNV T39A 0 0 0.088 0 0 0 0 26 0 0 4 0 4.9 76224 chr6 138703762 138703762 A G rs2076272 SMIM28 Synonymous SNV P79P 0 0 0.105 0 0 0 0 31 0 0 5 0 6.848 76225 chr14 67864526 67864526 G A rs746491267 PLEK2 Synonymous SNV N20N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.067 76226 chr6 138703885 138703885 G A rs79707350 SMIM28 Synonymous SNV P120P 0 0 0.017 0 0 0 0 5 0 0 0 0 6.799 76227 chr14 67940347 67940347 G A rs17782021 TMEM229B Synonymous SNV F142F 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 10.9 76228 chr6 138753187 138753187 C T rs80292692 NHSL1 Synonymous SNV S769S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 8.896 76229 chr12 49048757 49048757 G A rs191760160 KANSL2 Synonymous SNV V438V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.63 76230 chr6 138753931 138753931 C T rs74751932 NHSL1 Synonymous SNV P521P 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 12.87 76231 chr6 138768300 138768300 A C rs73776962 NHSL1 Nonsynonymous SNV F124V 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Benign 11.42 76232 chr6 139017873 139017873 - C FLJ46906 0 0 0.139 0 0 0 0 41 0 0 6 0 76233 chr6 139094613 139094613 T G rs564319828 GVQW2 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 76234 chr14 33069849 33069849 C G AKAP6 Nonsynonymous SNV L861V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.1 76235 chr12 49937984 49937984 G A rs147239279 KCNH3 Synonymous SNV T276T 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 10.57 76236 chr12 49948247 49948247 T C rs151103405 KCNH3 Synonymous SNV L622L 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 0.45 76237 chr12 49950220 49950220 T C rs148051821 KCNH3 Nonsynonymous SNV S786P 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 14.32 76238 chr3 112357653 112357653 C T rs145244203 CCDC80 Nonsynonymous SNV R367Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 76239 chr12 49981514 49981514 C G rs144854212 FAM186B Nonsynonymous SNV E852D 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 24.8 76240 chr12 49994054 49994054 A C rs148848955 FAM186B Nonsynonymous SNV F457V 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 0.004 76241 chr12 49998097 49998097 C G rs141974060 FAM186B Nonsynonymous SNV W107C 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 31 76242 chr14 69589012 69589012 T C rs149306770 DCAF5 Nonsynonymous SNV I94V 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 1.411 76243 chr12 95388014 95388014 T C rs570041029 NDUFA12 Synonymous SNV V63V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.303 76244 chr12 50027224 50027224 A G rs142195498 PRPF40B Synonymous SNV Q136Q 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 0.062 76245 chr6 142691312 142691312 G A rs778631441 ADGRG6 Nonsynonymous SNV V151M 0 0 0.007 0 0 0 0 2 0 0 0 0 27.2 76246 chr12 50029712 50029712 G A rs148071391 PRPF40B Synonymous SNV T432T 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 11.52 76247 chr12 50100925 50100925 C A rs200294583 FMNL3 Nonsynonymous SNV E13D 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 11.82 76248 chr12 50135994 50135994 C T rs200331428 TMBIM6 Synonymous SNV V25V 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 12 76249 chr6 142715050 142715050 G A rs370645479 ADGRG6 Nonsynonymous SNV G432E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.15 76250 chr12 50186585 50186585 T C rs138292278 NCKAP5L Synonymous SNV T1175T 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 3.076 76251 chr6 142741109 142741109 G T rs557716413 ADGRG6 Nonsynonymous SNV V1035L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 76252 chr3 112727040 112727040 G A rs146190936 NEPRO Nonsynonymous SNV H238Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.2 76253 chr3 112992013 112992013 C T rs144269826 BOC Synonymous SNV S353S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 76254 chr6 143092373 143092373 - TCAAAGATT rs755859658 HIVEP2 L1167_R1168insKSL 0 0 0.003 0 0 0 0 1 0 0 0 0 76255 chr14 39722294 39722294 G C rs145877161 MIA2 Nonsynonymous SNV Q602H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.92 76256 chr14 21468304 21468304 T C rs140813455 SLC39A2 Synonymous SNV S92S 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 0.805 76257 chr12 50472314 50472314 G A rs763111949 ASIC1 Synonymous SNV T350T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.67 76258 chr14 71445351 71445351 A G PCNX1 Nonsynonymous SNV D766G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.27 76259 chr14 73712479 73712479 C T LOC101928123 0 0.003 0 0 0 1 0 0 0 0 0 0 8.135 76260 chr12 51102232 51102232 A C DIP2B Nonsynonymous SNV I846L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 76261 chr6 150001528 150001528 G A LATS1 Synonymous SNV Y412Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.095 76262 chr12 56554415 56554415 G C rs61938990 MYL6 Nonsynonymous SNV V145L 0.016 0.018 0.01 7 19 7 0.018 3 0 0 0 0 19.64 76263 chr14 75330306 75330306 A G rs117853159 PROX2 Nonsynonymous SNV S78P 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Likely benign 8.284 76264 chr12 51696879 51696879 G C rs147235873 BIN2 Nonsynonymous SNV A44G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.5 76265 chr14 21993359 21993359 G A rs144885457 SALL2 Nonsynonymous SNV P166L 0.009 0.01 0.01 8 11 4 0.021 3 0 0 0 0 Benign 17.38 76266 chr12 52215347 52215347 T A rs768702774 FIGNL2 Nonsynonymous SNV E284V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 76267 chr6 151789724 151789726 TTG - rs757489793 ARMT1 L151del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 76268 chr13 103390384 103390384 T A rs141879232 CCDC168 Synonymous SNV A4221A 0.014 0.018 0.014 3 17 7 0.008 4 0 0 0 0 Likely benign 3.03 76269 chr12 57114417 57114417 - G rs764542193 NACA Frameshift insertion D300Rfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 76270 chr13 103394421 103394421 T C rs111294175 CCDC168 Nonsynonymous SNV K2876E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.024 76271 chr12 57499284 57499284 C T rs370880075 STAT6 Nonsynonymous SNV R150Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.8 76272 chr3 43073796 43073796 G A rs149380799 GASK1A Nonsynonymous SNV R14Q 0.016 0.013 0.007 3 19 5 0.008 2 0 0 0 0 26.5 76273 chr3 43389363 43389363 T C SNRK Nonsynonymous SNV C332R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.4 76274 chr14 23346279 23346279 G A rs142153001 LRP10 Nonsynonymous SNV R562H 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 26.6 76275 chr13 111294837 111294837 A C rs766266851 CARS2 Nonsynonymous SNV L483W 0.009 0 0 2 10 0 0.005 0 0 0 0 0 Likely benign 23.3 76276 chr14 59972024 59972026 TTC - rs146562268 CCDC175 K772del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 76277 chr14 24567508 24567508 T C rs2229661 PCK2 Synonymous SNV P124P 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 Benign 1.862 76278 chr14 24569418 24569418 A G rs2301336 PCK2 Synonymous SNV K410K 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 Benign 7.312 76279 chr12 6499968 6499968 G A LTBR Synonymous SNV E372E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.044 76280 chr12 53517552 53517552 G A rs55773507 SOAT2 Synonymous SNV P471P 0.014 0.026 0.024 10 17 10 0.026 7 0 0 0 0 9.79 76281 chr13 111109415 111109415 C G rs9521779 COL4A2-AS2 Nonsynonymous SNV Q219H 0.009 0.016 0 4 11 6 0.01 0 0 0 0 0 4.305 76282 chr3 124356101 124356101 C T rs148492046 KALRN Nonsynonymous SNV T174I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 76283 chr6 16144080 16144080 G A rs34627146 MYLIP Synonymous SNV T271T 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 9.694 76284 chr12 66935698 66935698 T C GRIP1 Nonsynonymous SNV M57V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.555 76285 chr6 161502033 161502033 A G rs762026224 MAP3K4 Nonsynonymous SNV I740V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 76286 chr12 6787612 6787612 T G rs138915812 ZNF384 Nonsynonymous SNV I123L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.1 76287 chr6 165712942 165712942 G C rs61733397 C6orf118 Nonsynonymous SNV A309G 0.029 0.039 0.027 22 34 15 0.056 8 0 0 0 1 0.481 76288 chr13 114058852 114058852 C T rs185241466 LOC101928841 Nonsynonymous SNV G1218E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.214 76289 chr6 166353943 166353943 G A rs67996003 LINC00473 0 0 0.034 0 0 0 0 10 0 0 1 0 4.722 76290 chr13 21729290 21729290 - AGTTTTCTTTGT SKA3 0.013 0.013 0.014 6 15 5 0.015 4 0 0 0 0 76291 chr14 33014549 33014549 C T rs33936626 AKAP6 Synonymous SNV Y230Y 0.012 0.008 0.017 8 14 3 0.021 5 0 0 0 0 0.744 76292 chr14 64935148 64935148 C G rs61755983 AKAP5 Nonsynonymous SNV N12K 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 22.2 76293 chr13 21734094 21734094 T C SKA3 Nonsynonymous SNV T288A 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 15.18 76294 chr3 47620165 47620165 C G CSPG5 Nonsynonymous SNV G7R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 76295 chr14 94845846 94845846 A G rs796723983 SERPINA1 Synonymous SNV A340A 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 9.259 76296 chr3 126211282 126211282 G A rs777474 UROC1 Synonymous SNV A529A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.254 76297 chr14 94845850 94845850 C T rs186298255 SERPINA1 Nonsynonymous SNV G339E 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.274 76298 chr14 94845852 94845852 A G rs371761828 SERPINA1 Synonymous SNV N338N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 5.482 76299 chr3 126226833 126226833 G A rs546955698 UROC1 Nonsynonymous SNV R173W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 76300 chr14 94845863 94845863 C T rs190061930 SERPINA1 Nonsynonymous SNV V335I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.71 76301 chr14 94845867 94845867 A G rs181491831 SERPINA1 Synonymous SNV T333T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.389 76302 chr14 94845878 94845878 - A SERPINA1 Frameshift insertion L330Sfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 76303 chr14 65210004 65210004 G A rs559443616 PLEKHG3 Synonymous SNV S1081S 0.006 0 0 2 7 0 0.005 0 0 0 0 0 7.237 76304 chr14 94845881 94845882 GA - SERPINA1 Q329Tfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 76305 chr14 94845885 94845885 C T SERPINA1 Synonymous SNV L327L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.464 76306 chr14 94845886 94845886 - G SERPINA1 Frameshift insertion L327Pfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 76307 chr14 94845891 94845891 G T SERPINA1 Nonsynonymous SNV S325R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 76308 chr14 94845897 94845897 C G rs186393785 SERPINA1 Synonymous SNV L323L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.382 76309 chr14 94845938 94845938 A G SERPINA1 Synonymous SNV L310L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 76310 chr14 94845939 94845939 G A SERPINA1 Synonymous SNV S309S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.602 76311 chr6 168069834 168069834 A G rs75366531 LINC02538 0 0 0.102 0 0 0 0 30 0 0 3 0 4.686 76312 chr6 168070483 168070483 A G rs9355041 LINC02538 0 0 0.245 0 0 0 0 72 0 0 26 0 0.717 76313 chr12 70280741 70280741 A T rs193023090 MYRFL Nonsynonymous SNV Y233F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 76314 chr3 48732486 48732486 C G IP6K2 Nonsynonymous SNV R135P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.55 76315 chr12 7076750 7076750 G A SCARNA12 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.64 76316 chr13 25481285 25481285 A C rs143258862 CENPJ Nonsynonymous SNV Y341D 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 76317 chr6 170176757 170176757 G A rs140632188 ERMARD Nonsynonymous SNV R450H 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 23 76318 chr3 128971751 128971751 C T rs73202214 COPG1 Synonymous SNV I92I 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Benign 14.75 76319 chr12 56506646 56506646 T C PA2G4 Synonymous SNV L387L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.952 76320 chr13 24433041 24433041 G A rs144106550 MIPEP Nonsynonymous SNV P355L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 76321 chr3 49847949 49847949 C T UBA7 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 76322 chr13 25283957 25283957 G A rs77438081 ATP12A Synonymous SNV G924G 0.011 0.005 0.024 8 13 2 0.021 7 0 0 0 0 Benign 7.644 76323 chr13 28942798 28942798 G C FLT1 Nonsynonymous SNV L707V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.034 76324 chr6 17669733 17669733 T C rs61748575 NUP153 Synonymous SNV Q299Q 0.036 0.026 0.034 15 42 10 0.038 10 2 0 0 0 1.319 76325 chr3 130162345 130162345 G A rs750306317 COL6A5 Synonymous SNV P2171P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.144 76326 chr15 101042034 101042034 T C CERS3 Synonymous SNV E7E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.957 76327 chr14 50778861 50778861 G A rs148241854 L2HGDH Nonsynonymous SNV P3L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Likely benign 18.15 76328 chr12 81661833 81661833 C T rs61756413 PPFIA2 Nonsynonymous SNV R651H 0.016 0.008 0.003 3 19 3 0.008 1 0 0 0 0 24.3 76329 chr12 8245547 8245547 C G NECAP1 Nonsynonymous SNV P191R 0.003 0 0 0 4 0 0 0 0 0 0 0 27.8 76330 chr6 25115296 25115296 G T rs2273671 CMAHP 0 0 0.092 0 0 0 0 27 0 0 1 0 14.06 76331 chr3 133098995 133098995 C T rs200974256 TMEM108 Nonsynonymous SNV P147L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.336 76332 chr15 101814650 101814650 C T rs117645634 SELENOS Synonymous SNV S153S 0.005 0.005 0.017 3 6 2 0.008 5 0 0 0 0 Benign 17.89 76333 chr12 83290083 83290083 G A rs35725509 TMTC2 Nonsynonymous SNV V136I 0.009 0.01 0.034 4 11 4 0.01 10 0 0 0 0 0.113 76334 chr15 102226161 102226161 C T TARS3 Nonsynonymous SNV M475I 0 0.003 0 0 0 1 0 0 0 0 0 0 33 76335 chr15 22958214 22958214 G A rs147012760 CYFIP1 Synonymous SNV S188S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 76336 chr12 59272721 59272721 G A rs140080436 LRIG3 Synonymous SNV P596P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.91 76337 chr6 26017889 26017889 T C rs374671007 HIST1H1A Synonymous SNV A24A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.034 76338 chr13 33590904 33590904 T G rs35239775 KL Nonsynonymous SNV L109R 0.009 0.005 0.02 4 10 2 0.01 6 0 0 0 0 Benign 0.072 76339 chr13 39586957 39586957 G A rs771254099 PROSER1 Nonsynonymous SNV A789V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24.3 76340 chr15 28408373 28408373 G C rs147074935 HERC2 Nonsynonymous SNV T3538S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 76341 chr14 55467701 55467701 T C rs139440460 WDHD1 Nonsynonymous SNV I112V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.137 76342 chr12 9010686 9010686 C T rs61745125 A2ML1 Synonymous SNV H593H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 11.46 76343 chr3 57322011 57322011 G A ASB14 Synonymous SNV L129L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.99 76344 chr3 136574239 136574239 T C rs114566691 SLC35G2 Synonymous SNV L313L 0.032 0.031 0.024 12 37 12 0.031 7 0 0 0 0 0.221 76345 chr13 41705110 41705110 T C rs200203929 KBTBD6 Nonsynonymous SNV N513S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 76346 chr13 38357220 38357220 T A TRPC4 Nonsynonymous SNV E84V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 29.9 76347 chr13 38357221 38357221 C A TRPC4 Stop gain E84X 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 39 76348 chr3 138187016 138187016 G A rs61732466 ESYT3 Nonsynonymous SNV D430N 0.023 0.031 0.027 13 27 12 0.033 8 0 1 0 1 0.027 76349 chr6 26423560 26423560 C T rs4320356 BTN2A3P 0 0 0.395 0 0 0 0 116 0 0 24 0 4.607 76350 chr6 26430816 26430816 - A rs143133904 BTN2A3P 0 0 0.088 0 0 0 0 26 0 0 0 0 76351 chr6 27115120 27115120 C T rs147816467 HIST1H2AH Synonymous SNV A71A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 76352 chr13 43930260 43930260 G A rs143923184 ENOX1 Synonymous SNV T241T 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 11.08 76353 chr15 33022994 33022994 C G rs111262341 GREM1 Nonsynonymous SNV P35A 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 Likely benign 13.68 76354 chr6 2766533 2766533 C T rs565906761 WRNIP1 Nonsynonymous SNV P226L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 76355 chr14 60395025 60395025 G A rs145698407 LRRC9 Nonsynonymous SNV E30K 0.018 0.026 0.017 5 21 10 0.013 5 0 0 0 0 14.23 76356 chr6 27730463 27730463 A G rs7759217 LOC100131289 0 0 0.194 0 0 0 0 57 0 0 6 0 3.148 76357 chr14 60524715 60524715 C T rs45545035 LRRC9 Synonymous SNV D1417D 0.011 0.005 0.017 5 13 2 0.013 5 0 0 0 0 10.07 76358 chr12 93968633 93968633 C A SOCS2 Nonsynonymous SNV P92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27 76359 chr6 28185554 28185554 T C rs73400579 TOB2P1 0 0 0.027 0 0 0 0 8 0 0 1 0 0.485 76360 chr3 141163655 141163655 G A rs3732867 ZBTB38 Nonsynonymous SNV A809T 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 0.003 76361 chr14 81558891 81558891 C G rs121908863 TSHR Nonsynonymous SNV P162A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Pathogenic 19.43 76362 chr3 141163705 141163705 G A rs3732868 ZBTB38 Synonymous SNV P825P 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 2.274 76363 chr12 66531758 66531758 T G rs147884415 TMBIM4 Nonsynonymous SNV E202D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.64 76364 chr3 141163975 141163975 G A rs61732448 ZBTB38 Synonymous SNV P915P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 7.501 76365 chr13 46288010 46288010 G A rs1028284556 CBY2 Nonsynonymous SNV A257T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.045 76366 chr14 81743506 81743506 G A rs377318610 STON2 Nonsynonymous SNV R717C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.31 76367 chr3 142231190 142231190 G A rs142240637 ATR Synonymous SNV L1524L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.14 76368 chr6 29893678 29893696 CGAGCTCCCTCTCTGGCGG - rs202214208 HCG4B 0 0 0.044 0 0 0 0 13 0 0 6 0 76369 chr3 142281821 142281821 A G rs10935466 ATR Synonymous SNV I141I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.205 76370 chr6 32520727 32520727 G C rs68123256 HLA-DRB6 0.1 0.055 0.061 37 117 21 0.095 18 55 8 9 17 0.616 76371 chr6 32521700 32521700 G A rs61104187 HLA-DRB6 0 0 0.034 0 0 0 0 10 0 0 5 0 12.12 76372 chr14 62207613 62207613 A T rs61755645 HIF1A Synonymous SNV T624T 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign 0.034 76373 chr6 32522731 32522731 C T rs36214033 HLA-DRB6 0 0 0.163 0 0 0 0 48 0 0 23 0 7.155 76374 chr6 32522736 32522736 A C rs36214032 HLA-DRB6 0 0 0.143 0 0 0 0 42 0 0 20 0 1.337 76375 chr6 32522744 32522744 A T rs34415634 HLA-DRB6 0 0 0.102 0 0 0 0 30 0 0 14 0 1.461 76376 chr6 32522747 32522747 G C rs34656272 HLA-DRB6 0 0 0.099 0 0 0 0 29 0 0 14 0 0.178 76377 chr6 32525747 32525747 T G rs76069911 HLA-DRB6 0 0 0.027 0 0 0 0 8 0 0 4 0 3.641 76378 chr6 32525748 32525748 C T rs75224167 HLA-DRB6 0 0 0.027 0 0 0 0 8 0 0 4 0 6.512 76379 chr6 32525754 32525754 T C rs60255287 HLA-DRB6 0 0 0.027 0 0 0 0 8 0 0 4 0 2.288 76380 chr6 32525764 32525764 C A rs76599963 HLA-DRB6 0 0 0.027 0 0 0 0 8 0 0 4 0 5.95 76381 chr6 32525774 32525774 G A rs78205167 HLA-DRB6 0 0 0.02 0 0 0 0 6 0 0 3 0 5.922 76382 chr6 32525779 32525779 G T rs77527755 HLA-DRB6 0 0 0.02 0 0 0 0 6 0 0 3 0 0.391 76383 chr6 32628190 32628190 T C rs28396311 HLA-DQB1-AS1 0.038 0.055 0.126 17 45 21 0.044 37 20 10 17 7 0.044 76384 chr6 32628342 32628342 T C rs9273500 HLA-DQB1-AS1 0 0 0.262 0 0 0 0 77 0 0 37 0 0.555 76385 chr12 980497 980497 A G rs147099510 WNK1 Nonsynonymous SNV I736V 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.179 76386 chr12 7045906 7045906 - CAG ATN1 Q502_H503insQ 0.018 0.018 0 6 21 7 0.015 0 0 0 0 0 76387 chr14 92253952 92253952 T G rs144110131 TC2N Nonsynonymous SNV E292A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 76388 chr12 7086586 7086586 G A rs117996263 LPCAT3 Synonymous SNV L430L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.13 76389 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG rs763541221 ATXN3 A22_G23insAAAAAAAAAA 0.049 0.034 0.007 6 58 13 0.015 2 0 0 0 0 76390 chr3 153839852 153839852 C T rs188383913 ARHGEF26 Nonsynonymous SNV P24L 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 25.2 76391 chr14 93118586 93118586 G A rs779255943 RIN3 Nonsynonymous SNV E323K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 76392 chr14 64746824 64746824 A G rs778231084 ESR2 Nonsynonymous SNV V137A 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 0.002 76393 chr3 155481692 155481692 C T rs147770210 C3orf33 Nonsynonymous SNV V167M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 76394 chr12 7548969 7548969 C A rs145411783 CD163L1 Nonsynonymous SNV R601L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.2 76395 chr13 103387196 103387196 G A rs146513369 CCDC168 Nonsynonymous SNV P5284L 0.017 0.008 0.02 4 20 3 0.01 6 0 0 0 0 22.6 76396 chr13 61102635 61102635 C G rs138767867 TDRD3 Nonsynonymous SNV P426A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 76397 chr14 65054026 65054026 C T rs141935456 PPP1R36 Nonsynonymous SNV R276C 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.4 76398 chr6 33657110 33657110 C A ITPR3 Nonsynonymous SNV L2264I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 76399 chr6 3456323 3456323 G A rs750077651 SLC22A23 Synonymous SNV T157T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.642 76400 chr13 53616051 53616051 G A rs201799697 OLFM4 Nonsynonymous SNV E122K 0.003 0 0 0 3 0 0 0 0 0 0 0 19.38 76401 chr12 76741341 76741341 C T rs142863601 BBS10 Nonsynonymous SNV D142N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 28.3 76402 chr12 77439823 77439823 G C rs61754233 E2F7 Nonsynonymous SNV P275R 0.023 0.023 0.01 9 27 9 0.023 3 0 1 0 0 12.34 76403 chr6 35207648 35207648 C G rs35847323 SCUBE3 Nonsynonymous SNV Q316E 0.003 0.005 0.014 2 4 2 0.005 4 0 0 0 0 23.8 76404 chr3 108295135 108295135 G T rs116097126 CIP2A Nonsynonymous SNV P293T 0.014 0.016 0 2 17 6 0.005 0 0 0 0 0 24 76405 chr13 106124993 106124993 A G rs72549478 DAOA Nonsynonymous SNV H16R 0.01 0.005 0 7 12 2 0.018 0 0 0 0 0 0.619 76406 chr14 65260046 65260046 G A rs200389830 SPTB Nonsynonymous SNV R779W 0.009 0.013 0 3 10 5 0.008 0 0 0 0 0 28 76407 chr6 35289175 35289175 A C rs35277012 DEF6 Synonymous SNV A628A 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 1.224 76408 chr13 76448016 76448016 G T LMO7DN 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 15.24 76409 chr6 35443741 35443741 G A rs201872038 TEAD3 Synonymous SNV L285L 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 9.812 76410 chr15 41136775 41136775 C T rs750538694 SPINT1 Nonsynonymous SNV A8V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.69 76411 chr14 95085707 95085707 C T rs61737404 SERPINA3 Synonymous SNV S273S 0.02 0.026 0.034 11 23 10 0.028 10 1 0 1 0 12.24 76412 chr14 95569719 95569719 C T rs143454689 DICER1 Synonymous SNV A1338A 0.011 0.013 0.003 6 13 5 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.82 76413 chr12 80328685 80328685 C T rs200012841 PPP1R12A Synonymous SNV K9K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.61 76414 chr6 36185759 36185759 A G rs145016452 BRPF3 Nonsynonymous SNV S1019G 0.01 0.016 0.02 6 12 6 0.015 6 0 0 0 0 17.5 76415 chr14 68045278 68045278 C T rs202023234 PLEKHH1 Nonsynonymous SNV P927S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.61 76416 chr6 36641929 36641929 T A rs13201823 PANDAR 0 0 0.037 0 0 0 0 11 0 0 0 0 8.139 76417 chr13 110864264 110864264 C T rs34458255 COL4A1 Synonymous SNV E131E 0.019 0.005 0.02 5 22 2 0.013 6 1 0 0 0 Benign/Likely benign 12.72 76418 chr15 41862354 41862436 GGTAAGGGGATGGGGATGTGGAGGGAGAGGCAGGTAATGATGAAAGACCTTGGAGCTGACCCCAAATCCTGGGTTTTCCTTTA - TYRO3 Q417Kfs*43 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 76419 chr13 99115978 99115978 C T rs150258777 STK24 Nonsynonymous SNV S280N 0.007 0.008 0 0 8 3 0 0 0 0 0 0 20.3 76420 chr15 42143327 42143327 G C rs149420099 SPTBN5 Nonsynonymous SNV L3589V 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 4.643 76421 chr6 38690855 38690855 G C rs180723141 DNAH8 Synonymous SNV P90P 0.002 0.013 0.014 4 2 5 0.01 4 0 0 0 0 Benign 5.442 76422 chr6 38704943 38704943 A G rs6935293 DNAH8 Nonsynonymous SNV N71S 0.025 0.052 0.061 9 29 20 0.023 18 0 1 1 0 Benign 1.198 76423 chr14 71197329 71197329 G A rs148083571 MAP3K9 Nonsynonymous SNV T761M 0 0.003 0 0 0 1 0 0 0 0 0 0 30 76424 chr13 99992582 99992582 T C UBAC2 Synonymous SNV G155G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.027 76425 chr12 88480233 88480233 C G rs183655276 CEP290 Nonsynonymous SNV D1413H 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 76426 chr12 89917301 89917301 A G rs199790853 GALNT4, POC1B-GALNT4 Synonymous SNV S342S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.011 76427 chr6 39856689 39856689 A G rs3003946 LOC100505635 0 0 0.384 0 0 0 0 113 0 0 40 0 3.116 76428 chr15 101420155 101420155 A G rs1130737 ALDH1A3 Nonsynonymous SNV R15G 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Benign/Likely benign 7.806 76429 chr15 43483843 43483843 T C rs78193368 CCNDBP1 Nonsynonymous SNV I277T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.6 76430 chr6 4190150 4190150 C T rs13203277 LOC102724096 0 0 0.126 0 0 0 0 37 0 0 13 0 7.476 76431 chr6 42044847 42044847 G C rs189994370 TAF8 Nonsynonymous SNV G264R 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 32 76432 chr14 101005566 101005566 G A rs754276823 BEGAIN Synonymous SNV Y174Y 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.01 76433 chr14 103059287 103059307 GCCGCCTCCGCCTCCGCCGCC - rs754925733 RCOR1 S26_A32del 0.007 0.013 0 5 8 5 0.013 0 0 1 0 0 76434 chr15 45561551 45561551 C T rs17222057 SLC28A2 Nonsynonymous SNV L462F 0.006 0.005 0.003 8 7 2 0.021 1 0 0 0 1 15.44 76435 chr13 23907033 23907033 G A rs36061856 SACS Nonsynonymous SNV A3514V 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 76436 chr12 94543405 94543405 C T rs746906046 PLXNC1 Synonymous SNV L220L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.745 76437 chr15 45710756 45710756 G A rs149358678 SPATA5L1 Nonsynonymous SNV G657D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.4 76438 chr15 45725175 45725175 C G rs149677351 C15orf48 Synonymous SNV P71P 0.006 0.008 0.003 7 7 3 0.018 1 0 0 0 0 1.063 76439 chr6 43014786 43014786 G C rs188565648 CUL7 Synonymous SNV A827A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.23 76440 chr12 96180994 96180994 C T rs140037942 NTN4 Nonsynonymous SNV R103H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.54 76441 chr3 184910069 184910069 T A rs56056620 EHHADH Nonsynonymous SNV N610I 0.012 0.021 0.014 9 14 8 0.023 4 0 0 0 0 Benign 25.4 76442 chr15 48748913 48748913 C T rs140649 FBN1 Synonymous SNV V1781V 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Benign/Likely benign 17.74 76443 chr14 103466048 103466048 G A rs35954043 CDC42BPB Synonymous SNV Y150Y 0.014 0.013 0 2 16 5 0.005 0 0 0 0 0 Benign 12.1 76444 chr3 185209413 185209413 C T rs139252054 TMEM41A Nonsynonymous SNV G236E 0.015 0.026 0.02 5 18 10 0.013 6 0 1 0 0 33 76445 chr14 105180568 105180568 C T rs75382114 INF2 Synonymous SNV P1023P 0.012 0.029 0.007 0 14 11 0 2 0 0 0 0 Benign/Likely benign 12.61 76446 chr3 186335125 186335125 C A AHSG Synonymous SNV R188R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.9 76447 chr15 50593417 50593417 C A rs80042819 GABPB1 0.016 0.018 0 4 19 7 0.01 0 0 0 0 0 25.8 76448 chr15 50763945 50763945 T A rs61751062 USP8 Nonsynonymous SNV L191I 0.014 0.008 0.02 1 16 3 0.003 6 0 0 0 0 Benign 27.6 76449 chr14 103941454 103941454 G A rs56126530 MARK3 Synonymous SNV K384K 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 14.28 76450 chr14 105219568 105219568 C T SIVA1 Synonymous SNV D10D 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 76451 chr6 44233216 44233216 G C rs28362857 NFKBIE Nonsynonymous SNV H95Q 0 0 0.048 0 0 0 0 14 0 0 0 0 11.73 76452 chr14 104028342 104028342 C T rs754600751 BAG5 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.714 76453 chr3 186504139 186504139 T C rs77264282 SNORA63B 0.013 0.013 0.01 3 15 5 0.008 3 0 0 0 0 0.009 76454 chr13 28155529 28155529 A T rs78036110 LNX2 Nonsynonymous SNV H104Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.3 76455 chr3 186504407 186504407 A G rs11538612 EIF4A2 Synonymous SNV K248K 0.013 0.013 0.01 3 15 5 0.008 3 0 0 0 0 0.739 76456 chr15 51696837 51696837 G T GLDN Nonsynonymous SNV Q390H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 76457 chr14 104493079 104493079 T C rs144686761 TDRD9 Nonsynonymous SNV W1029R 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 24.9 76458 chr3 121981074 121981074 G A rs201177696 CASR Nonsynonymous SNV D398N 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.99 76459 chr13 30107019 30107019 G A rs117551747 SLC7A1 Synonymous SNV P157P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.6 76460 chr6 46632594 46632594 T C rs35884480 SLC25A27 Nonsynonymous SNV I197T 0.04 0.044 0.048 18 47 17 0.046 14 2 0 1 1 19.83 76461 chr3 188327555 188327555 T C rs7645635 LPP Nonsynonymous SNV Y346H 0.018 0.005 0.024 5 21 2 0.013 7 1 0 1 0 22.4 76462 chr14 79423631 79423631 C T rs35008707 NRXN3 Synonymous SNV N401N 0.038 0.031 0.031 14 45 12 0.036 9 0 0 0 0 13.65 76463 chr14 105421044 105421044 C G AHNAK2 Synonymous SNV V148V 0.004 0.016 0 0 5 6 0 0 0 0 0 0 5.542 76464 chr13 32760476 32760476 C A rs34413414 FRY Synonymous SNV P1133P 0.024 0.023 0.024 13 28 9 0.033 7 0 0 0 0 17.15 76465 chr3 123019029 123019029 G A rs375200141 ADCY5 Synonymous SNV I596I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.11 76466 chr13 33628051 33628051 G A rs143344388 KL Nonsynonymous SNV V323I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 23.9 76467 chr13 33703274 33703274 G C rs143961677 STARD13 Nonsynonymous SNV H506D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.003 76468 chr3 194346704 194346704 A G rs140271606 TMEM44 Nonsynonymous SNV Y94H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 25.5 76469 chr13 103474177 103474177 G A rs781573321 BIVM, BIVM-ERCC5 Synonymous SNV T33T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.08 76470 chr13 103514756 103514756 G A rs371251823 BIVM-ERCC5, ERCC5 Nonsynonymous SNV M419I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.843 76471 chr14 91780031 91780031 C T rs145379761 CCDC88C Nonsynonymous SNV R710H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 29.1 76472 chr13 38156538 38156538 C T rs117103342 POSTN Nonsynonymous SNV G453R 0.006 0.013 0.007 2 7 5 0.005 2 0 1 0 0 34 76473 chr15 40659437 40659437 A T rs140120816 DISP2 Nonsynonymous SNV Y375F 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 25 76474 chr15 62221909 62221909 G A rs747470685 VPS13C Nonsynonymous SNV S1983F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 76475 chr15 62261522 62261522 T C rs755503657 VPS13C Nonsynonymous SNV S920G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.17 76476 chr14 93408073 93408073 C T rs140740014 ITPK1 Nonsynonymous SNV G241S 0.001 0.013 0 2 1 5 0.005 0 0 0 0 0 18.26 76477 chr6 54805349 54805349 A C FAM83B Nonsynonymous SNV E527A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 76478 chr15 40920831 40920831 A G rs180678267 KNL1 Synonymous SNV E1846E 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.66 76479 chr15 41148092 41148092 C T rs139286505 SPINT1 Nonsynonymous SNV H374Y 0.01 0.008 0.003 3 12 3 0.008 1 0 0 0 0 13.44 76480 chr6 55223868 55223868 C A rs143766097 GFRAL Nonsynonymous SNV T295N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.038 76481 chr14 94909024 94909024 C T rs144603054 SERPINA11 Synonymous SNV R396R 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 15.67 76482 chr15 41822078 41822078 C T rs555521680 RPAP1 Nonsynonymous SNV R348Q 0.006 0.003 0 0 7 1 0 0 0 0 0 0 19.29 76483 chr13 111335406 111335406 C T rs146773721 CARS2 Nonsynonymous SNV G216E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 0.058 76484 chr14 95562347 95562347 G C rs140875148 DICER1 Nonsynonymous SNV S1637W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.63 76485 chr6 64395196 64395196 G A rs34288820 PHF3 Nonsynonymous SNV V437I 0.008 0 0.017 3 9 0 0.008 5 0 0 0 0 21 76486 chr6 64423411 64423411 A G rs113309637 PHF3 Nonsynonymous SNV H1888R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 23.4 76487 chr4 961760 961760 C T rs113007498 DGKQ Nonsynonymous SNV R240H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23 76488 chr13 113729495 113729495 C T rs142834643 MCF2L Synonymous SNV L396L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.33 76489 chr14 21543536 21543536 C T rs770430251 ARHGEF40 Nonsynonymous SNV P499L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.462 76490 chr6 656658 656658 C T rs759519295 HUS1B Nonsynonymous SNV G96D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.306 76491 chr15 66420724 66420724 C T rs139006288 MEGF11 Synonymous SNV T6T 0.016 0.021 0.014 10 19 8 0.026 4 0 0 0 0 12.48 76492 chr13 47243196 47243196 C G rs41284185 LRCH1 Nonsynonymous SNV L162V 0.019 0.029 0.02 11 22 11 0.028 6 0 0 1 0 19.53 76493 chr13 114059240 114059240 G A rs117815536 LOC101928841 Nonsynonymous SNV R1089W 0.011 0.01 0 9 13 4 0.023 0 0 0 0 0 5.418 76494 chr13 114059638 114059638 G A rs117605449 LOC101928841 Nonsynonymous SNV A956V 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 0.522 76495 chr13 114062002 114062002 T C rs145620138 LOC101928841 Nonsynonymous SNV K168R 0.011 0.01 0 9 13 4 0.023 0 0 0 0 0 2.266 76496 chr14 21992122 21992122 C T rs45442799 SALL2 Synonymous SNV E578E 0.009 0.013 0.003 7 11 5 0.018 1 0 0 0 0 9.432 76497 chr15 43009197 43009197 C T rs146027773 STARD9 Nonsynonymous SNV S4482F 0.009 0.003 0.01 4 11 1 0.01 3 0 0 0 0 21.9 76498 chr3 130903576 130903576 A G rs180926777 NEK11 Nonsynonymous SNV Y477C 0.009 0.008 0.01 6 11 3 0.015 3 0 0 0 0 2.1 76499 chr4 1349029 1349029 G A rs2276904 UVSSA Nonsynonymous SNV R391H 0.022 0.013 0.031 14 26 5 0.036 9 2 0 0 0 0.04 76500 chr15 43018577 43018577 G A rs146289653 CDAN1 Synonymous SNV D1045D 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Likely benign 10.15 76501 chr15 43621160 43621178 CACTTAGTACAGGTTCCAC - rs539274680 LCMT2 V504Tfs*7 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 76502 chr13 52332329 52332329 C T rs35409673 WDFY2 Nonsynonymous SNV R356C 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 35 76503 chr4 1729603 1729603 C T TACC3 Synonymous SNV S158S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 76504 chr13 52439890 52439890 C T rs17076052 CCDC70 Nonsynonymous SNV R115C 0.014 0.008 0.007 5 16 3 0.013 2 0 0 0 0 8.222 76505 chr15 45391647 45391647 T C rs200000982 DUOX2 Nonsynonymous SNV Y1150C 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Uncertain significance 25.3 76506 chr15 71211422 71211422 G A rs986547327 LRRC49 Nonsynonymous SNV E206K 0 0.003 0 0 0 1 0 0 0 0 0 0 30 76507 chr6 74440124 74440124 G A rs147342140 CD109 Nonsynonymous SNV D112N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.993 76508 chr13 52971761 52971761 C T rs144420262 THSD1 Synonymous SNV L209L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.808 76509 chr4 2828992 2828992 C T rs35313240 SH3BP2 Nonsynonymous SNV A155V 0.012 0.008 0.007 2 14 3 0.005 2 0 0 0 0 Benign 22.6 76510 chr13 61987469 61987469 T C PCDH20 Nonsynonymous SNV M255V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 76511 chr4 3076630 3076630 - CAG HTT Q38_P39insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 76512 chr15 74032479 74032479 G C rs150411210 INSYN1 Nonsynonymous SNV P221A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.884 76513 chr13 73346406 73346406 T C rs41286058 DIS3 Nonsynonymous SNV K342R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.24 76514 chr4 3237376 3237376 C T rs199535935 HTT Synonymous SNV L2886L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 16.95 76515 chr14 23450681 23450681 G A rs746617100 AJUBA Synonymous SNV T265T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.36 76516 chr6 76024704 76024704 G A rs62415695 FILIP1 Nonsynonymous SNV L282F 0.036 0.023 0.034 8 42 9 0.021 10 0 0 0 0 24.8 76517 chr15 48789491 48789491 T C FBN1 Synonymous SNV E755E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.025 76518 chr15 23086391 23086391 T C rs749414711 NIPA1 Synonymous SNV A7A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.8 76519 chr3 137787115 137787115 G C DZIP1L Synonymous SNV P570P 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 2.045 76520 chr4 3449740 3449740 G - HGFAC G539Afs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 76521 chr15 25207273 25207273 C T rs426541 SNURF Synonymous SNV H9H 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.46 76522 chr15 49288680 49288680 T A SECISBP2L Nonsynonymous SNV N791I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27.3 76523 chr15 49288727 49288727 A G rs150175110 SECISBP2L Synonymous SNV D775D 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 4.213 76524 chr13 76427253 76427253 T G rs73229904 LMO7 Nonsynonymous SNV S1137A 0.019 0.01 0.02 2 22 4 0.005 6 0 0 1 0 26.6 76525 chr4 3495145 3495145 G T rs757194339 DOK7 Nonsynonymous SNV G168C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 76526 chr6 80717709 80717709 G C TTK Nonsynonymous SNV S108T 0.006 0.013 0.041 6 7 5 0.015 12 0 0 0 0 22.9 76527 chr14 23821361 23821361 G A rs72542466 SLC22A17 Synonymous SNV P21P 0.027 0.034 0.034 9 32 13 0.023 10 0 0 0 0 1.448 76528 chr15 27772767 27772767 A G rs2066712 GABRG3 Nonsynonymous SNV T352A 0.024 0.029 0.02 6 28 11 0.015 6 0 0 0 0 0.004 76529 chr14 23826792 23826792 G A rs2231811 EFS Synonymous SNV C350C 0.026 0.034 0.034 11 31 13 0.028 10 0 0 0 0 9.527 76530 chr14 23871909 23871909 G A rs78107039 MYH6 Synonymous SNV T333T 0.025 0.021 0.024 2 29 8 0.005 7 0 0 0 0 Benign/Likely benign 5.897 76531 chr15 75641682 75641682 T C rs5745908 NEIL1 0.017 0.013 0.007 4 20 5 0.01 2 0 0 0 0 Benign 24.9 76532 chr15 75941622 75941622 G A rs190829588 SNX33 Nonsynonymous SNV R60H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 76533 chr15 52179813 52179813 C G TMOD3 Nonsynonymous SNV P104R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 76534 chr15 52553259 52553259 C G rs200784696 MYO5C Nonsynonymous SNV Q371H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.179 76535 chr3 141162890 141162890 G A ZBTB38 Nonsynonymous SNV G554R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.6 76536 chr13 99338531 99338531 C T rs8187840 SLC15A1 Synonymous SNV S616S 0.009 0.008 0.01 4 10 3 0.01 3 0 0 0 0 21.1 76537 chr3 142557711 142557711 C T rs149199107 PCOLCE2 Nonsynonymous SNV R204Q 0.009 0.008 0 0 11 3 0 0 0 0 0 0 23.4 76538 chr3 142681090 142681090 T G rs2276758 PAQR9 Synonymous SNV V363V 0.04 0.029 0.02 15 47 11 0.038 6 2 0 0 0 1.039 76539 chr14 24526449 24526449 A G rs45508393 CARMIL3 Nonsynonymous SNV D379G 0.011 0.005 0.017 3 13 2 0.008 5 0 0 0 0 24.8 76540 chr3 142681642 142681642 G A rs78494654 PAQR9 Synonymous SNV G179G 0.04 0.029 0.02 15 47 11 0.038 6 2 0 0 0 5.243 76541 chr15 54307454 54307454 T C rs201926907 UNC13C Nonsynonymous SNV I785T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 76542 chr13 99907568 99907568 G T rs41279138 GPR18 Nonsynonymous SNV L187M 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Likely benign 11.83 76543 chr4 7032104 7032104 G A rs17854096 TBC1D14 Synonymous SNV P409P 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 10.73 76544 chr14 24799146 24799146 G A rs72694358 ADCY4 Synonymous SNV I379I 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 14.45 76545 chr14 24675319 24675319 G A TSSK4 Nonsynonymous SNV D64N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 76546 chr15 81235363 81235363 G A rs35526763 CEMIP Synonymous SNV V1259V 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 Benign 8.061 76547 chr13 33703481 33703481 G A rs142351638 STARD13 Nonsynonymous SNV R437W 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 76548 chr15 81592162 81592164 CCT - rs562825970 IL16 S137del 0 0.003 0 0 0 1 0 0 0 0 0 0 76549 chr3 151165409 151165409 G A rs140241435 IGSF10 Nonsynonymous SNV P787L 0.012 0.005 0 1 14 2 0.003 0 0 0 0 0 0.068 76550 chr14 103416191 103416191 G A rs148759838 CDC42BPB Synonymous SNV V1120V 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 13.84 76551 chr7 100085880 100085880 C T rs150028591 NYAP1 Nonsynonymous SNV S179F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 25.5 76552 chr15 83330584 83330584 C T rs184007787 AP3B2 Synonymous SNV K47K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 13.93 76553 chr7 100228664 100228664 C T rs202221581 TFR2 Nonsynonymous SNV G202D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.9 76554 chr15 60724151 60724151 A G rs79167237 ICE2 Nonsynonymous SNV I711T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.95 76555 chr7 100419924 100419924 G A rs763357193 EPHB4 Synonymous SNV F259F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 76556 chr7 100484502 100484502 G A rs141861227 SRRT Synonymous SNV G577G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 76557 chr13 39425957 39425957 A G rs929298787 FREM2 Nonsynonymous SNV K2293E 0 0 0 1 0 0 0.003 0 0 0 0 0 32 76558 chr14 31774338 31774338 T A HEATR5A Nonsynonymous SNV E1671V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 33 76559 chr7 100486836 100486836 C T UFSP1 Synonymous SNV E19E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 76560 chr13 41766402 41766402 A G rs112193758 KBTBD7 Synonymous SNV D664D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.026 76561 chr3 158525185 158525185 G A rs371509741 MFSD1 Nonsynonymous SNV V86I 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 16.5 76562 chr14 31619290 31619290 A G rs45450991 HECTD1 Synonymous SNV S690S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Benign 7.963 76563 chr13 42264380 42264380 C T rs2274810 VWA8 Nonsynonymous SNV E1300K 0.041 0.036 0.027 20 48 14 0.051 8 0 0 0 0 23.4 76564 chr4 13604027 13604027 G A rs142422253 BOD1L1 Synonymous SNV N1499N 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 5.66 76565 chr4 13605040 13605040 C T rs61995957 BOD1L1 Nonsynonymous SNV V1162I 0.015 0.016 0.024 3 18 6 0.008 7 0 0 0 0 0.13 76566 chr14 35343714 35343714 T G BAZ1A Nonsynonymous SNV I33L 0.007 0 0 0 8 0 0 0 0 0 0 0 23.5 76567 chr4 15004871 15004871 G C rs143336011 CPEB2 Nonsynonymous SNV D192H 0.015 0.013 0.017 3 18 5 0.008 5 0 0 0 0 20.2 76568 chr4 15005641 15005641 C T rs142927413 CPEB2 Synonymous SNV G448G 0.019 0.016 0.024 5 22 6 0.013 7 0 0 0 0 10.75 76569 chr4 15005738 15005738 - GCG rs534266090 CPEB2 G487_F488insG 0.014 0.013 0.024 4 17 5 0.01 7 0 0 0 0 76570 chr4 15688903 15688903 G A rs145934164 FAM200B Synonymous SNV S101S 0.012 0.013 0.014 4 14 5 0.01 4 0 0 0 0 6.317 76571 chr15 41803706 41803706 C T rs192402541 LTK Nonsynonymous SNV R243Q 0.009 0.016 0.003 3 10 6 0.008 1 0 0 0 0 8.259 76572 chr14 105167744 105167744 G A rs62638758 INF2 Synonymous SNV L14L 0.008 0.005 0.007 5 9 2 0.013 2 0 0 0 0 Benign 8.5 76573 chr14 105180652 105180652 C T rs117457867 INF2 Synonymous SNV D1051D 0.008 0.008 0.007 5 9 3 0.013 2 0 0 0 0 Benign 12.66 76574 chr15 65394671 65394671 C - UBAP1L A158Rfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 76575 chr15 65394674 65394674 C G UBAP1L Nonsynonymous SNV G157R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 76576 chr14 38208001 38208001 C T rs146985994 TTC6 Synonymous SNV D684D 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 4.047 76577 chr15 42021512 42021512 T C rs17677811 MGA Nonsynonymous SNV C1270R 0.028 0.042 0.014 15 33 16 0.038 4 0 1 0 1 21.5 76578 chr14 38218548 38218548 G A rs184767824 TTC6 Nonsynonymous SNV R939H 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 34 76579 chr13 49076935 49076935 T G rs766784428 RCBTB2 Nonsynonymous SNV T74P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 76580 chr14 105962227 105962227 C T rs113070134 TEDC1 Nonsynonymous SNV A232V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.495 76581 chr7 100550474 100550475 CC - MUC3A A352Vfs*41 0 0 0.092 0 0 0 0 27 0 0 0 0 76582 chr15 42439433 42439433 C A rs145292197 PLA2G4F Synonymous SNV T436T 0.004 0.008 0 8 5 3 0.021 0 0 0 0 0 15.21 76583 chr7 100550571 100550571 G C rs146166922 MUC3A Nonsynonymous SNV M384I 0.004 0.008 0.058 4 5 3 0.01 17 0 0 0 0 0.56 76584 chr7 100551043 100551043 A G rs747408530 MUC3A Nonsynonymous SNV I542V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.59 76585 chr15 43024540 43024540 T C rs147500837 CDAN1 Synonymous SNV Q508Q 0.007 0.008 0 8 8 3 0.021 0 0 0 0 0 Benign/Likely benign 1.815 76586 chr15 43067700 43067700 T C rs754164056 TTBK2 Nonsynonymous SNV K544R 0.004 0.008 0 8 5 3 0.021 0 0 0 0 0 6.99 76587 chr4 38774816 38774816 C T rs4129008 TLR10 Nonsynonymous SNV R799Q 0.02 0.021 0.034 8 24 8 0.021 10 1 0 0 0 9.141 76588 chr15 69347675 69347675 C T rs145743798 NOX5 Synonymous SNV G639G 0.003 0.003 0.01 3 3 1 0.008 3 0 0 0 0 3.317 76589 chr4 38800282 38800282 T C rs145135062 TLR1 Nonsynonymous SNV I57M 0.02 0.016 0.027 7 23 6 0.018 8 1 0 0 0 Benign 23.1 76590 chr14 20665963 20665963 G A OR11G2 Nonsynonymous SNV A157T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 76591 chr13 52639716 52639716 C T rs267603845 NEK5 Nonsynonymous SNV G627R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 15.4 76592 chr14 51716269 51716269 C T rs189401439 TMX1 Synonymous SNV S191S 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 14.52 76593 chr15 71952899 71952899 G A rs72742760 THSD4 Nonsynonymous SNV D35N 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 23 76594 chr13 53418854 53418854 A G rs35458755 PCDH8 Synonymous SNV Y1018Y 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 Benign 0.04 76595 chr15 45974763 45974763 G A rs140459079 SQOR Nonsynonymous SNV V318M 0.011 0.016 0 6 13 6 0.015 0 1 0 0 0 28.8 76596 chr13 67477720 67477720 T G PCDH9 Nonsynonymous SNV K1018N 0 0 0 2 0 0 0.005 0 0 0 0 1 22.2 76597 chr15 72523315 72523315 G C rs180716407 PKM Stop gain S5X 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.829 76598 chr15 74328153 74328153 G T PML Nonsynonymous SNV G736V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.662 76599 chr15 74468105 74468105 G A rs150921456 ISLR Synonymous SNV P302P 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 1.337 76600 chr15 74536356 74536356 G A rs189088694 CCDC33 Nonsynonymous SNV A18T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 76601 chr14 52496399 52496399 T C rs150908602 NID2 Nonsynonymous SNV D756G 0.013 0.021 0.024 4 15 8 0.01 7 0 0 0 0 Likely benign 1.094 76602 chr15 90320123 90320158 GGGCAGGGGCAAGGGCAGGGGCAGGGGCAGGGGCAA - rs749710849 MESP2 Q194_G205del 0 0.003 0 0 0 1 0 0 0 0 0 0 76603 chr15 75648489 75648489 G A rs140762875 MAN2C1 Synonymous SNV C887C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.325 76604 chr15 75932172 75932172 G A rs116602139 IMP3 Nonsynonymous SNV T113I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 76605 chr13 99337143 99337143 C T rs143994270 SLC15A1 Synonymous SNV A654A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.65 76606 chr14 56119599 56119599 A C KTN1 Nonsynonymous SNV M879L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.49 76607 chr15 77329400 77329400 G A rs529402949 PSTPIP1 Synonymous SNV L359L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.702 76608 chr15 54307925 54307925 C T rs17731958 UNC13C Nonsynonymous SNV S942L 0.032 0.018 0.02 14 37 7 0.036 6 1 1 0 0 6.01 76609 chr7 100679880 100679880 G A rs140602043 MUC17 Nonsynonymous SNV R1728H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.85 76610 chr15 54557674 54557674 A G rs117887090 UNC13C Synonymous SNV V1266V 0.031 0.021 0.02 9 36 8 0.023 6 0 0 0 0 10.62 76611 chr15 55710533 55710533 C T C15orf65 Nonsynonymous SNV T44I 0.009 0.005 0 6 10 2 0.015 0 0 0 0 0 22.3 76612 chr7 100953945 100953946 AT - rs112091937 LOC101927746 0 0 0.027 0 0 0 0 8 0 0 0 0 76613 chr3 193052831 193052831 C G ATP13A5 Nonsynonymous SNV W334S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.2 76614 chr15 56387352 56387352 T C rs117528481 RFX7 Synonymous SNV Q761Q 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 0.114 76615 chr7 102782219 102782219 C A RPL19P12 0 0 0.279 0 0 0 0 82 0 0 0 0 8.907 76616 chr7 102782220 102782220 A G RPL19P12 0 0 0.286 0 0 0 0 84 0 0 0 0 7.4 76617 chr7 102782225 102782225 A T RPL19P12 0 0 0.248 0 0 0 0 73 0 0 0 0 3.771 76618 chr15 99192756 99192763 TTTTTTTT - IRAIN 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 76619 chr7 102782232 102782232 C G RPL19P12 0 0 0.163 0 0 0 0 48 0 0 0 0 7.225 76620 chr7 102782446 102782446 A C rs1861725 RPL19P12 0 0 0.459 0 0 0 0 135 0 0 67 0 0.506 76621 chr14 62207553 62207553 G A rs34005929 HIF1A Synonymous SNV L604L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 8.381 76622 chr14 23564437 23564437 T C rs61745081 ACIN1 Nonsynonymous SNV N20S 0.012 0.005 0.017 10 14 2 0.026 5 0 0 0 1 24.1 76623 chr14 64653146 64653146 T C rs117070973 SYNE2 Nonsynonymous SNV L5854P 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 Benign/Likely benign 29.5 76624 chr4 69968530 69968530 G A rs775959265 UGT2B7 Nonsynonymous SNV M292I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 76625 chr7 111379198 111379198 G C rs150569245 DOCK4 Nonsynonymous SNV P1733A 0.01 0.01 0.027 4 12 4 0.01 8 0 0 0 0 16.42 76626 chr14 64727436 64727436 A G rs561226739 ESR2 Nonsynonymous SNV L228P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 4.744 76627 chr16 11933678 11933678 G C rs2075160 RSL1D1 Synonymous SNV T340T 0.025 0.039 0.01 12 29 15 0.031 3 0 0 0 0 1.523 76628 chr15 64010881 64010881 A C rs148128516 HERC1 Synonymous SNV G1290G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.136 76629 chr15 64066986 64066986 G A rs116967176 HERC1 Synonymous SNV H279H 0.023 0.023 0.01 8 27 9 0.021 3 2 0 0 0 0.182 76630 chr16 12009277 12009277 C A rs185937624 GSPT1 Nonsynonymous SNV G101C 0.024 0.039 0.007 13 28 15 0.033 2 0 0 0 0 22.7 76631 chr15 64499749 64499749 T C CSNK1G1 Nonsynonymous SNV M242V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 24.2 76632 chr4 3076609 3076609 - CAGCAGCAG HTT Q38_P39insQQQ 0.016 0.005 0 1 19 2 0.003 0 0 0 0 0 76633 chr15 64967193 64967193 C G ZNF609 Nonsynonymous SNV P714A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.7 76634 chr15 65042560 65042560 G A rs61741344 RBPMS2 Synonymous SNV I62I 0.018 0.036 0.031 6 21 14 0.015 9 1 1 0 0 15.92 76635 chr14 64701771 64701771 A G rs60101369 ESR2 Synonymous SNV I350I 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 Benign 0.851 76636 chr7 116340086 116340086 A G rs35225896 MET Nonsynonymous SNV I316M 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign/Likely benign 22.8 76637 chr15 65114484 65114484 G A rs8031690 PIF1 Synonymous SNV T266T 0.022 0.021 0.014 6 26 8 0.015 4 1 0 0 0 10.45 76638 chr15 65295505 65295505 C T rs35477493 MTFMT Synonymous SNV Q355Q 0.025 0.018 0.027 7 29 7 0.018 8 0 0 0 1 Benign 12.69 76639 chr15 65297261 65297261 C T rs34636936 MTFMT Synonymous SNV T302T 0.012 0.01 0.024 1 14 4 0.003 7 0 0 0 0 Benign 11.84 76640 chr15 65370107 65370107 C G rs368781046 KBTBD13 Synonymous SNV T318T 0.009 0.008 0.024 1 10 3 0.003 7 0 0 0 0 Benign 3.116 76641 chr15 65425456 65425456 G A rs200157710 PDCD7 Nonsynonymous SNV R222W 0.009 0.008 0.02 1 10 3 0.003 6 0 0 0 0 26 76642 chr15 65490592 65490592 C T rs148582730 CILP Nonsynonymous SNV V678M 0.009 0.008 0.024 1 10 3 0.003 7 0 0 0 0 23.5 76643 chr15 65495747 65495747 A G rs35566210 CILP Synonymous SNV S327S 0.009 0.008 0.024 1 10 3 0.003 7 0 0 0 0 2.244 76644 chr14 71443815 71443815 C G rs148727616 PCNX1 Nonsynonymous SNV S254C 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 23.5 76645 chr15 65563369 65563369 G T rs140267356 PARP16 Synonymous SNV L72L 0.009 0.008 0.024 1 11 3 0.003 7 0 0 0 0 6.78 76646 chr7 123672230 123672230 C A rs373049425 TMEM229A Synonymous SNV T276T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 76647 chr15 65563370 65563370 A T rs149110325 PARP16 Nonsynonymous SNV L72H 0.009 0.008 0.024 1 11 3 0.003 7 0 0 0 0 23.6 76648 chr7 123672457 123672465 GCTGCTGCT - rs779605758 TMEM229A Q198_Q200del 0 0 0.003 0 0 0 0 1 0 0 0 0 76649 chr15 65625740 65625740 G A rs141417417 IGDCC3 Synonymous SNV I279I 0.009 0.01 0.017 1 11 4 0.003 5 0 0 0 0 11.49 76650 chr14 68270875 68270875 C T rs764112580 ZFYVE26 Nonsynonymous SNV E460K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 23.7 76651 chr14 73441632 73441632 G A rs151266277 ZFYVE1 Synonymous SNV N199N 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 9.671 76652 chr15 66034069 66034069 A C rs61751117 DENND4A Synonymous SNV T205T 0.029 0.018 0.024 14 34 7 0.036 7 2 0 0 2 0.097 76653 chr14 69792069 69792069 T C rs138000077 GALNT16 Synonymous SNV T150T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.396 76654 chr16 15870032 15870032 A G rs34341838 MYH11 Synonymous SNV Y264Y 0.033 0.044 0.034 22 39 17 0.056 10 2 0 0 0 Benign/Likely benign 3.6 76655 chr7 127668813 127668813 C G LRRC4 Synonymous SNV L627L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.752 76656 chr15 68582042 68582042 C T FEM1B Nonsynonymous SNV H116Y 0.001 0.01 0 0 1 4 0 0 0 0 0 0 24.8 76657 chr14 71511884 71511884 G T rs202214990 PCNX1 Nonsynonymous SNV G1190V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 28.2 76658 chr14 73490752 73490752 G A rs34303517 ZFYVE1 Synonymous SNV D155D 0.012 0.021 0.014 7 14 8 0.018 4 0 0 0 0 Benign 7.373 76659 chr14 73743367 73743367 A G rs177381 NUMB Synonymous SNV N566N 0.01 0.016 0.014 7 12 6 0.018 4 0 0 0 0 Benign 0.305 76660 chr4 79238621 79238621 G A rs373092006 FRAS1 Nonsynonymous SNV R640H 0.003 0 0 0 3 0 0 0 0 0 0 0 3.631 76661 chr16 17564595 17564595 G A rs568899945 XYLT1 Nonsynonymous SNV A20V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.15 76662 chr14 74156101 74156101 C G rs141873943 DNAL1 Nonsynonymous SNV L139V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.97 76663 chr14 75017900 75017900 C A rs137854857 LTBP2 Nonsynonymous SNV S518I 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign/Likely benign 16.71 76664 chr16 1877351 1877351 G T rs778621990 FAHD1 Stop gain E41X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 76665 chr14 75136773 75136773 C T rs17101845 AREL1 Synonymous SNV A555A 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 16.05 76666 chr4 79440589 79440589 C T rs149604281 FRAS1 Synonymous SNV T3498T 0.029 0.047 0.054 11 34 18 0.028 16 1 1 0 0 Benign 10.68 76667 chr14 75151252 75151252 C T rs140239552 AREL1 Nonsynonymous SNV V50M 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 32 76668 chr15 89790917 89790917 A T rs201981373 FANCI Synonymous SNV T13T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.337 76669 chr15 72459382 72459382 G A rs141536149 GRAMD2A Nonsynonymous SNV R142W 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 33 76670 chr14 75747830 75747830 C G rs2229024 FOS Synonymous SNV G282G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 5.491 76671 chr4 83582207 83582207 C T SCD5 Nonsynonymous SNV G198E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.824 76672 chr14 75747512 75747512 G C rs138334429 FOS Nonsynonymous SNV K176N 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign 25.4 76673 chr7 135262576 135262576 T C rs61756076 NUP205 Synonymous SNV S227S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.87 76674 chr16 19896720 19896720 G T GPRC5B Nonsynonymous SNV A66E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.514 76675 chr14 77493647 77493647 - GCG rs762944175 IRF2BPL A164_V165insA 0.002 0.005 0 0 2 2 0 0 0 0 0 0 76676 chr15 90744777 90744777 C T rs768328093 SEMA4B Synonymous SNV P42P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.649 76677 chr4 2935510 2935518 GGGCAGCAG - MFSD10 L45_P47del 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 76678 chr4 3076606 3076606 - CAGCAGCAGCAG HTT Q38_P39insQQQQ 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 76679 chr15 75189935 75189935 C T rs374702385 MPI Nonsynonymous SNV A329V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 76680 chr14 78174483 78174483 C T rs117221257 SLIRP Nonsynonymous SNV A10V 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 4.94 76681 chr15 76994150 76994150 G A rs146898365 SCAPER Synonymous SNV A573A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 15.85 76682 chr15 91478598 91478598 C T rs370654049 UNC45A Nonsynonymous SNV T15I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.857 76683 chr15 77067396 77067396 T C rs142461932 SCAPER Nonsynonymous SNV T33A 0.008 0.013 0.003 5 9 5 0.013 1 0 0 0 0 Likely benign 0.064 76684 chr16 2096209 2096209 G A rs148104494 NTHL1 Nonsynonymous SNV R92C 0 0.01 0 0 0 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 76685 chr15 77240821 77240821 C T rs144470086 RCN2 Synonymous SNV N243N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.24 76686 chr15 91769856 91769856 C T rs144735429 SV2B Synonymous SNV A121A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 13.52 76687 chr16 2140294 2140294 C T rs148478410 PKD1 Nonsynonymous SNV V4145I 0.011 0.013 0.027 2 13 5 0.005 8 0 0 0 0 Benign/Likely benign 25 76688 chr14 56142616 56142616 G A rs779679125 KTN1 Nonsynonymous SNV V1222I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 76689 chr4 91230416 91230416 G A rs35057072 CCSER1 Synonymous SNV E327E 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 0.027 76690 chr14 90650708 90650708 C T rs114616148 KCNK13 Synonymous SNV Y196Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.529 76691 chr14 22134170 22134170 G A rs184610169 OR4E2 Nonsynonymous SNV E292K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.23 76692 chr4 94750508 94750508 G A rs969557427 ATOH1 Nonsynonymous SNV R144H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 76693 chr14 92336691 92336691 G T FBLN5 Synonymous SNV R408R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.471 76694 chr14 92480673 92480673 T C TRIP11 Nonsynonymous SNV S357G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.34 76695 chr14 23303491 23303491 C G MRPL52 Synonymous SNV P52P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.781 76696 chr15 81610781 81610781 G A rs201161645 STARD5 Nonsynonymous SNV P155S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 76697 chr4 96762117 96762117 A G rs760901048 PDHA2 Synonymous SNV R272R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.466 76698 chr16 23614846 23614846 C T rs45439097 PALB2 Synonymous SNV S1165S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.52 76699 chr14 23389796 23389796 G C rs45536732 PRMT5-AS1 0.022 0.023 0.01 12 26 9 0.031 3 0 0 0 0 11.68 76700 chr14 60473173 60473173 T C rs188779385 LRRC9 Synonymous SNV G967G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.687 76701 chr15 83680319 83680319 G A rs79927613 C15orf40 Nonsynonymous SNV T14I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.995 76702 chr14 93277899 93277899 G A rs142273431 GOLGA5 Nonsynonymous SNV E374K 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Likely benign 33 76703 chr14 60632014 60632014 A G rs112243953 DHRS7 Nonsynonymous SNV L5P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 76704 chr14 94401102 94401102 C T rs35858830 ASB2 Nonsynonymous SNV R555Q 0.026 0.021 0.017 17 31 8 0.044 5 1 0 0 0 23.1 76705 chr14 93963563 93963563 C G rs79866114 UNC79 Nonsynonymous SNV L277V 0.009 0.008 0.003 5 10 3 0.013 1 0 0 0 0 25.3 76706 chr16 27078352 27078352 C T rs140988362 C16orf82 Synonymous SNV L12L 0.024 0.031 0.017 7 28 12 0.018 5 0 0 0 0 2.274 76707 chr16 27078547 27078547 G C rs114049498 C16orf82 Synonymous SNV P77P 0.024 0.031 0.02 7 28 12 0.018 6 0 0 0 0 5.025 76708 chr16 27078560 27078560 G A rs150391493 C16orf82 Nonsynonymous SNV G82S 0.024 0.031 0.017 7 28 12 0.018 5 0 0 0 0 1.733 76709 chr16 27078636 27078636 G A rs146897787 C16orf82 Nonsynonymous SNV R107Q 0.027 0.031 0.02 9 32 12 0.023 6 0 0 0 0 7.663 76710 chr14 62233692 62233692 T C rs148447482 SNAPC1 Nonsynonymous SNV V76A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 27 76711 chr7 149172279 149172279 G A rs761227610 ZNF746 Synonymous SNV V378V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.158 76712 chr7 149462381 149462381 C T rs112589121 ZNF467 Nonsynonymous SNV A404T 0.091 0.076 0.065 32 107 29 0.082 19 4 1 0 2 6.726 76713 chr14 94756496 94756496 A C rs117421112 SERPINA10 Nonsynonymous SNV F145L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.323 76714 chr14 63757738 63757738 T C rs781770189 RHOJ Nonsynonymous SNV I214T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.1 76715 chr7 149486382 149486382 C G rs2074704 SSPO 0.079 0.065 0.092 33 93 25 0.085 27 3 1 2 2 4.528 76716 chr7 149489491 149489491 C T rs1076277 SSPO 0.076 0.063 0.085 32 89 24 0.082 25 3 1 2 2 10.55 76717 chr16 2868783 2868783 A G rs2074906 PRSS21 Synonymous SNV V119V 0.008 0.008 0.02 3 9 3 0.008 6 0 0 0 0 3.739 76718 chr4 104012365 104012365 A G rs140261412 BDH2 Nonsynonymous SNV M109T 0.01 0.008 0 0 12 3 0 0 0 0 0 0 26.4 76719 chr4 105412714 105412714 C A CXXC4 Synonymous SNV A82A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 76720 chr16 1259187 1259187 C T rs753767261 CACNA1H Synonymous SNV G1173G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 9.162 76721 chr16 30004819 30004819 C T rs150030843 HIRIP3 Nonsynonymous SNV V490M 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 23 76722 chr14 96552940 96552940 G A rs369821457 C14orf132 Synonymous SNV A40A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.794 76723 chr4 109010339 109010339 C A rs138774973 LEF1 Nonsynonymous SNV E163D 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 76724 chr14 99870620 99870620 G A rs144345236 SETD3 Synonymous SNV T373T 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 9.809 76725 chr4 110650838 110650838 T C rs200639232 PLA2G12A Nonsynonymous SNV H43R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 76726 chr4 110667485 110667485 T C rs41278047 CFI Nonsynonymous SNV K434R 0.01 0.008 0.01 7 12 3 0.018 3 0 0 0 0 Benign 0.002 76727 chr14 96798669 96798669 C T ATG2B Nonsynonymous SNV V481I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.865 76728 chr16 1451627 1451627 C T rs139467103 UNKL Synonymous SNV G180G 0.008 0 0 2 9 0 0.005 0 0 0 0 0 14.55 76729 chr14 31164033 31164033 A G rs61754285 SCFD1 Nonsynonymous SNV T248A 0.018 0.01 0.01 6 21 4 0.015 3 0 0 0 0 11.75 76730 chr16 1470610 1470610 G A rs779800334 C16orf91 Synonymous SNV A12A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.45 76731 chr15 100672334 100672334 C G rs200867086 ADAMTS17 Synonymous SNV V533V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.944 76732 chr4 47973114 47973114 C T rs145846303 CNGA1 Nonsynonymous SNV E2K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.588 76733 chr14 68123146 68123146 C T rs45548534 VTI1B Nonsynonymous SNV R176H 0.008 0.01 0.014 2 9 4 0.005 4 0 0 0 0 29 76734 chr7 150878051 150878051 C T rs151344612 ASB10 Nonsynonymous SNV R360H 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 29.7 76735 chr4 115998082 115998082 G A rs143774400 NDST4 Synonymous SNV Y37Y 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 0.035 76736 chr16 31143616 31143616 A C PRSS8 Nonsynonymous SNV L249R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.634 76737 chr7 151864393 151864393 C T rs754460722 KMT2C Synonymous SNV K3196K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.755 76738 chr4 25014048 25014048 G A rs34079294 LGI2 Synonymous SNV Y243Y 0.008 0.018 0 3 9 7 0.008 0 0 0 0 0 11.48 76739 chr14 38061547 38061547 G C rs112819884 FOXA1 Nonsynonymous SNV L148V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.33 76740 chr15 101602802 101602802 C T rs775001656 LRRK1 Synonymous SNV T1607T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 17.21 76741 chr16 15973731 15973731 C T rs143318149 FOPNL Nonsynonymous SNV V15I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 76742 chr14 73727509 73727509 T C rs177389 PAPLN Nonsynonymous SNV M693T 0.036 0.06 0.027 14 42 23 0.036 8 1 0 0 0 0.7 76743 chr15 102261334 102261334 T C rs139835556 TARS3 Synonymous SNV E187E 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.197 76744 chr4 36189157 36189157 T C rs116105213 ARAP2 Nonsynonymous SNV I532V 0.006 0.013 0.007 7 7 5 0.018 2 1 0 0 0 9.04 76745 chr14 73989134 73989134 G A rs75069466 HEATR4 Synonymous SNV Y241Y 0.006 0.01 0.007 3 7 4 0.008 2 0 0 0 0 1.444 76746 chr7 156432955 156432955 G A rs79924697 LINC01006 0 0 0.146 0 0 0 0 43 0 0 3 0 12.08 76747 chr14 39716830 39716830 C G rs142210112 MIA2 Nonsynonymous SNV A351G 0.003 0 0 5 3 0 0.013 0 0 0 0 0 4.345 76748 chr15 89835954 89835954 C T rs16942969 FANCI Synonymous SNV A676A 0.007 0.016 0.007 1 8 6 0.003 2 0 0 0 0 Benign 17.18 76749 chr14 74193550 74193550 C T rs74937439 ELMSAN1 Nonsynonymous SNV R763Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.7 76750 chr15 23890609 23890609 C G rs146970674 MAGEL2 Nonsynonymous SNV A761P 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 76751 chr15 89862237 89862237 C T rs61752780 POLG Synonymous SNV T1066T 0.014 0.016 0 3 16 6 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.65 76752 chr16 17232155 17232155 A G rs564480162 LOC102723692 0.002 0 0 0 2 0 0 0 0 0 0 0 2.382 76753 chr14 74756738 74756738 G A rs45568335 ABCD4 Nonsynonymous SNV R208W 0.007 0 0 2 8 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 76754 chr14 74759015 74759015 C A rs201100662 ABCD4 Nonsynonymous SNV G102C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 23.4 76755 chr14 75245157 75245157 A G rs752654621 YLPM1 Nonsynonymous SNV Q294R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.8 76756 chr15 90191977 90191977 C T rs756368261 KIF7 Nonsynonymous SNV A318T 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 Uncertain significance 26.8 76757 chr4 39064647 39064647 T A rs144755927 KLHL5 Nonsynonymous SNV S171R 0.007 0.01 0 0 8 4 0 0 0 0 0 0 16.32 76758 chr7 158552253 158552253 G A ESYT2 Nonsynonymous SNV A448V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 76759 chr14 75485604 75485604 T C rs192384476 MLH3 Synonymous SNV P1366P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 8.868 76760 chr15 90248843 90248843 T G rs752780091 WDR93 Nonsynonymous SNV N185K 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 26.7 76761 chr15 90451640 90451640 C T rs761406771 ARPIN, ARPIN-AP3S2 Nonsynonymous SNV R58H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 76762 chr16 19125800 19125800 C T rs115520782 ITPRIPL2 Nonsynonymous SNV T6I 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 25.3 76763 chr14 51219349 51219349 G A rs61755995 NIN Nonsynonymous SNV R900C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 27.2 76764 chr7 21778429 21778429 T C rs2003417 DNAH11 Nonsynonymous SNV Y2586H 0.025 0.036 0.041 12 29 14 0.031 12 1 1 0 0 Benign/Likely benign 24.9 76765 chr7 2294787 2294787 G A rs373187532 SNX8 Synonymous SNV N434N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.1 76766 chr7 23624475 23624475 A G rs227932 CLK2P1 0 0 0.701 0 0 0 0 206 0 0 96 0 2.022 76767 chr7 23793958 23793958 C T rs147162609 STK31 Synonymous SNV F363F 0 0 0.007 0 0 0 0 2 0 0 0 0 11.61 76768 chr16 48218478 48218478 C T rs757178923 ABCC11 Nonsynonymous SNV R1044Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 76769 chr4 151935743 151935743 C T rs150755521 LRBA Nonsynonymous SNV G18R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 25.9 76770 chr14 55609366 55609368 AAC - rs776734600 LGALS3 N167del 0 0 0 1 0 0 0.003 0 0 0 0 0 76771 chr14 55848699 55848699 C T ATG14 Synonymous SNV K286K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.29 76772 chr14 55878467 55878467 T A rs201105489 ATG14 Nonsynonymous SNV D25V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.43 76773 chr15 40574377 40574377 C T rs556412604 ANKRD63 Synonymous SNV V137V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 12.75 76774 chr15 40583620 40583620 C T rs200750147 PLCB2 Nonsynonymous SNV E891K 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 28.8 76775 chr7 26577894 26577894 A T rs10241879 LOC441204 0 0 0.34 0 0 0 0 100 0 0 38 0 2.021 76776 chr16 50188052 50188052 T C rs1026012523 TENT4B Nonsynonymous SNV Y174H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.206 76777 chr4 48530238 48530238 G T rs201653865 FRYL Nonsynonymous SNV S2340Y 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26.7 76778 chr16 50733415 50733415 G A rs774491311 NOD2 Synonymous SNV S3S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.63 76779 chr16 22201684 22201684 G A rs139413850 SDR42E2 Synonymous SNV Q617Q 0.006 0.003 0.017 4 7 1 0.01 5 0 0 1 0 4.007 76780 chr16 1129586 1129586 C T rs121917877 SSTR5 Nonsynonymous SNV R240W 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 protective 25 76781 chr4 54966656 54966656 G T GSX2 Nonsynonymous SNV G49C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 25.7 76782 chr16 22271847 22271847 C - rs773668233 EEF2K R433Gfs*51 0.002 0 0 0 2 0 0 0 0 0 0 0 76783 chr16 22271849 22271849 G T rs200367551 EEF2K Nonsynonymous SNV R433L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 76784 chr7 29923974 29923974 G A rs373625381 WIPF3 Synonymous SNV E288E 0.005 0.005 0.01 1 6 2 0.003 3 1 0 0 0 5.739 76785 chr16 11773412 11773412 C T rs747981331 TXNDC11 Nonsynonymous SNV R387Q 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 16.02 76786 chr15 41688843 41688843 T C NDUFAF1 Nonsynonymous SNV T139A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.5 76787 chr4 155411289 155411289 T C DCHS2 Nonsynonymous SNV N407D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 76788 chr16 53860047 53860047 T C rs141423836 FTO Nonsynonymous SNV I106T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 76789 chr14 60448779 60448779 G A rs76209613 LRRC9 0.013 0.003 0.003 2 15 1 0.005 1 0 0 0 0 25.4 76790 chr4 155412235 155412235 C T rs778306936 DCHS2 Synonymous SNV P91P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 76791 chr16 23619235 23619235 A C rs45516100 PALB2 Synonymous SNV T1100T 0.036 0.034 0.031 17 42 13 0.044 9 0 0 0 0 Benign/Likely benign 0.079 76792 chr16 23641461 23641461 C G rs45532440 PALB2 Nonsynonymous SNV E672Q 0.036 0.034 0.031 17 42 13 0.044 9 0 0 0 0 Benign/Likely benign 8.057 76793 chr16 23646857 23646857 A G rs45494092 PALB2 Nonsynonymous SNV L337S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.275 76794 chr16 23717715 23717715 G C ERN2 Synonymous SNV A175A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.486 76795 chr7 31732089 31732089 C G rs3735422 PPP1R17 Nonsynonymous SNV L12V 0.049 0.029 0.071 26 57 11 0.067 21 2 0 0 1 20.9 76796 chr4 159592875 159592875 C T rs145167320 C4orf46 Nonsynonymous SNV A27T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.474 76797 chr7 32620689 32620689 - TA rs142183918 DPY19L1P1 0 0 0.371 0 0 0 0 109 0 0 51 0 76798 chr7 32982559 32982559 T C rs3750077 RP9P 0 0 0.228 0 0 0 0 67 0 0 15 0 7.801 76799 chr16 27786399 27786399 G A rs146629703 KIAA0556 Synonymous SNV P1481P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.31 76800 chr16 28857282 28857282 G A rs11542257 TUFM Synonymous SNV I66I 0.014 0.008 0.007 1 17 3 0.003 2 0 0 0 0 Benign 16.89 76801 chr16 28885036 28885036 C T rs760421828 SH2B1 Synonymous SNV D722D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.743 76802 chr16 29998772 29998772 T C TAOK2 Nonsynonymous SNV L1060P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.3 76803 chr7 4167400 4167400 G C rs57692103 LOC105375131 0 0 0.218 0 0 0 0 64 0 0 14 0 0.559 76804 chr16 30002170 30002170 G A TAOK2 Synonymous SNV L837L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.73 76805 chr16 3042665 3042665 C T rs142665877 LINC00514 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 7.108 76806 chr16 30770541 30770541 T C rs141615439 CCDC189 Nonsynonymous SNV M229V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.005 76807 chr4 178231219 178231219 C T rs34007209 NEIL3 Nonsynonymous SNV R38C 0.028 0.016 0.048 9 33 6 0.023 14 1 0 0 0 18.99 76808 chr4 178257364 178257364 G C rs17064658 NEIL3 Nonsynonymous SNV Q172H 0.02 0.013 0.034 5 24 5 0.013 10 1 0 0 0 9.939 76809 chr7 43982198 43982198 T C rs2528372 POLR2J4 0 0 0.068 0 0 0 0 20 0 0 0 0 4.656 76810 chr7 44191894 44191894 G A rs149412035 GCK Synonymous SNV D113D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.22 76811 chr14 70252940 70252940 A G rs199795138 SLC10A1 Synonymous SNV D147D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.777 76812 chr14 70489935 70489935 C T rs144398452 SMOC1 Synonymous SNV D354D 0.01 0.008 0.01 7 12 3 0.018 3 0 0 0 0 Benign 11.37 76813 chr15 45397993 45397993 C T rs138353181 DUOX2 Nonsynonymous SNV A728T 0.024 0.026 0.02 5 28 10 0.013 6 1 0 0 0 Benign/Likely benign 3.126 76814 chr4 74313193 74313193 C T rs28482344 AFP Synonymous SNV S286S 0.015 0.018 0.007 6 18 7 0.015 2 0 0 0 0 Benign 8.908 76815 chr15 45426373 45426373 G A rs145196561 DUOX1 Nonsynonymous SNV S58N 0.014 0.01 0.007 4 16 4 0.01 2 1 0 0 0 7.272 76816 chr16 67207882 67207882 G A rs1044315008 NOL3 Synonymous SNV R37R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.715 76817 chr16 31152818 31152818 C T rs117442264 PRSS36 Nonsynonymous SNV V620I 0.016 0.016 0.024 5 19 6 0.013 7 1 0 0 0 23.8 76818 chr4 76797623 76797623 A G rs149341405 PPEF2 Synonymous SNV G379G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.33 76819 chr16 31476237 31476237 G A rs953460175 ARMC5 Synonymous SNV L631L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.844 76820 chr16 2009660 2009660 A G NDUFB10 Nonsynonymous SNV E12G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.8 76821 chr15 48533774 48533774 C T rs139225683 SLC12A1 Synonymous SNV Y426Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.469 76822 chr7 47906069 47906069 C T rs79519739 PKD1L1 Nonsynonymous SNV R1347Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.762 76823 chr16 67679674 67679674 G A rs771595439 CARMIL2 Synonymous SNV P60P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 76824 chr7 47906202 47906202 T C PKD1L1 Nonsynonymous SNV S1303G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.76 76825 chr16 67691743 67691743 C T ACD Nonsynonymous SNV R407K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 76826 chr15 22846932 22846932 G A rs118137061 TUBGCP5 Synonymous SNV Q269Q 0.025 0.031 0.041 7 29 12 0.018 12 0 0 0 0 8.919 76827 chr15 22853808 22853808 C T rs142094970 TUBGCP5 Synonymous SNV H482H 0.025 0.031 0.037 7 29 12 0.018 11 0 0 0 0 9.644 76828 chr16 68264854 68264854 G A rs117260313 ESRP2 Synonymous SNV P606P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.999 76829 chr16 3708189 3708189 G A rs758903218 TRAP1 Nonsynonymous SNV P633S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.2 76830 chr15 52613593 52613593 G C rs56219052 MYO5A Synonymous SNV L1586L 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 10.93 76831 chr14 75473343 75473343 A T EIF2B2 Nonsynonymous SNV T253S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 76832 chr7 4874250 4874250 G A rs76862906 RADIL Synonymous SNV R468R 0.044 0.026 0.041 23 52 10 0.059 12 0 0 0 1 5.897 76833 chr7 4874334 4874334 C G rs75074289 RADIL Synonymous SNV L440L 0.04 0.026 0.037 22 47 10 0.056 11 0 0 0 1 6.495 76834 chr15 28358769 28358769 C T HERC2 Nonsynonymous SNV V4657M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 28.6 76835 chr15 28422188 28422188 G C HERC2 Nonsynonymous SNV L3114V 0.003 0 0 0 4 0 0 0 0 0 0 0 9.512 76836 chr16 2140267 2140267 C T rs201970421 MIR1225 0.003 0.005 0 0 4 2 0 0 0 0 0 0 8.548 76837 chr16 22019729 22019729 - AGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCATCCC MOSMO 0.006 0.005 0.014 1 7 2 0.003 4 0 0 0 0 76838 chr15 54306012 54306012 C G rs149448818 UNC13C Nonsynonymous SNV D304E 0.013 0.005 0.003 2 15 2 0.005 1 1 0 0 0 24.8 76839 chr4 187525054 187525054 C T rs773450673 FAT1 Synonymous SNV P3542P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 76840 chr14 76964736 76964736 G A rs146351534 ESRRB Nonsynonymous SNV V413I 0.021 0.029 0.014 6 25 11 0.015 4 1 0 0 0 Benign/Likely benign 11.41 76841 chr16 69418607 69418607 G C rs573059226 TERF2 Nonsynonymous SNV S161C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 76842 chr16 2290104 2290104 G A rs144920416 ECI1 Nonsynonymous SNV T245M 0.007 0.008 0.003 11 8 3 0.028 1 0 0 0 0 Uncertain significance 26.2 76843 chr16 705344 705344 C A rs144704309 WDR90 Synonymous SNV R532R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.81 76844 chr15 57524982 57524982 G A rs12442879 TCF12 Nonsynonymous SNV G64S 0.012 0.008 0.024 8 14 3 0.021 7 0 0 0 0 Benign 10.01 76845 chr7 55910722 55910722 G A rs185926188 SEPTIN14 Synonymous SNV R157R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.164 76846 chr7 5754755 5754755 C T rs141012211 RNF216 Nonsynonymous SNV A588T 0 0 0.003 0 0 0 0 1 0 0 0 0 27 76847 chr15 34331114 34331125 CCGCCGCCGCCT - rs758764557 AVEN G42_G45del 0.003 0 0.048 0 4 0 0 14 2 0 4 0 76848 chr5 422906 422906 C T rs61755969 AHRR Synonymous SNV C172C 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign 13.44 76849 chr4 119666217 119666217 - A rs35951660 SEC24D 0.009 0.005 0.017 9 11 2 0.023 5 0 0 0 0 76850 chr5 446446 446446 C T rs115207857 EXOC3 Synonymous SNV S42S 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign 14.47 76851 chr7 64035106 64035106 T C rs77213048 LOC100128885 0 0 0.099 0 0 0 0 29 0 0 3 0 0.721 76852 chr16 72198686 72198686 C G PMFBP1 Nonsynonymous SNV E48Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.42 76853 chr16 25238420 25238420 G A rs117255669 AQP8 Nonsynonymous SNV A212T 0.011 0.005 0.007 6 13 2 0.015 2 0 0 0 0 28.7 76854 chr15 59911421 59911421 A T rs4775190 GCNT3 Synonymous SNV P328P 0.025 0.031 0.031 9 29 12 0.023 9 1 1 0 0 0.004 76855 chr7 64291405 64291405 G A rs118016824 ZNF138 Nonsynonymous SNV G73E 0.01 0.005 0.017 3 12 2 0.008 5 0 0 0 0 2.81 76856 chr5 477361 477361 C T rs79705784 SLC9A3-AS1 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 3.311 76857 chr5 477508 477508 C T rs41282627 SLC9A3 Nonsynonymous SNV V558M 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign 17.34 76858 chr16 48162599 48162599 T C rs758914125 ABCC12 Nonsynonymous SNV D429G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.45 76859 chr5 480198 480198 G A rs78884036 SLC9A3-AS1 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 1.811 76860 chr15 63111778 63111778 G A rs138463845 TLN2 Nonsynonymous SNV G2279S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 11.73 76861 chr5 1075488 1075488 G A rs150315797 SLC12A7 Synonymous SNV R655R 0.011 0 0.003 2 13 0 0.005 1 0 0 0 0 Benign 0.225 76862 chr16 75579832 75579832 G A rs980137242 TMEM231 Synonymous SNV N163N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.64 76863 chr16 75646553 75646553 C T rs141222568 ADAT1 Nonsynonymous SNV G124R 0.001 0.008 0.007 2 1 3 0.005 2 0 0 0 0 23.1 76864 chr16 50745101 50745101 C T rs760982375 NOD2 Nonsynonymous SNV P400S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 21.2 76865 chr7 71135088 71135088 C T rs144202399 GALNT17 Synonymous SNV Y466Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 76866 chr16 7703932 7703932 G A rs761510301 RBFOX1 Synonymous SNV P311P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.67 76867 chr15 64430377 64430377 A G rs111266723 SNX1 Nonsynonymous SNV Y552C 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 13.85 76868 chr15 63620308 63620308 C T CA12 Nonsynonymous SNV G299E 0.004 0 0 0 5 0 0 0 0 0 0 0 18.54 76869 chr15 64967083 64967083 C A ZNF609 Nonsynonymous SNV T677K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 76870 chr15 65157652 65157652 G A rs76490900 PLEKHO2 Nonsynonymous SNV M296I 0.013 0.013 0 3 15 5 0.008 0 0 0 0 0 12.49 76871 chr16 28944271 28944271 T G rs146795664 CD19 Nonsynonymous SNV L132R 0.005 0.01 0.003 5 6 4 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.017 76872 chr15 65447268 65447268 A G rs35754835 CLPX Nonsynonymous SNV I488T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 29 76873 chr5 5186252 5186252 C A rs190796529 ADAMTS16 Nonsynonymous SNV S284Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 76874 chr16 777590 777590 C T rs143758903 HAGHL Synonymous SNV A27A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 76875 chr15 64970496 64970496 C T rs146522359 ZNF609 Nonsynonymous SNV T1195M 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 23.8 76876 chr15 65116390 65116390 C A rs75683534 PIF1 Stop gain E49X 0.026 0.021 0.027 8 30 8 0.021 8 0 0 0 0 35 76877 chr16 29821421 29821435 GCGGCGGCAGCGGCA - rs530039776 MAZ A139_A143del 0.022 0.021 0.02 9 26 8 0.023 6 0 0 0 0 76878 chr7 7571197 7571197 C T rs200426969 COL28A1 Nonsynonymous SNV V155M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 76879 chr15 41816354 41816354 A T rs148404660 RPAP1 Nonsynonymous SNV L725Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 76880 chr16 81047748 81047748 G A rs147389889 CENPN Nonsynonymous SNV R60H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.053 76881 chr15 65369242 65369242 G A rs138484272 KBTBD13 Nonsynonymous SNV G30D 0.015 0.01 0.003 5 18 4 0.013 1 1 0 0 0 Benign/Likely benign 0.099 76882 chr15 65957717 65957717 C G rs61751113 DENND4A Synonymous SNV P1731P 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 12.13 76883 chr15 65988709 65988709 C T rs61753848 DENND4A Nonsynonymous SNV S982N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.434 76884 chr16 30012145 30012145 C T rs376962416 INO80E Nonsynonymous SNV P91L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.8 76885 chr15 65394453 65394453 A G rs140286289 UBAP1L Synonymous SNV P230P 0.005 0.013 0 1 6 5 0.003 0 0 1 0 0 0.662 76886 chr16 55909101 55909101 G A rs146478301 CES5A Synonymous SNV I11I 0.019 0.008 0.014 7 22 3 0.018 4 0 0 0 0 5.781 76887 chr7 79818277 79818277 A G rs17153555 GNAI1 Synonymous SNV E43E 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 10.69 76888 chr15 66840941 66840941 G C rs143150424 LCTL Nonsynonymous SNV P358A 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 23.3 76889 chr16 30569349 30569349 C T rs61744716 ZNF764 Nonsynonymous SNV R52Q 0.017 0.021 0.014 6 20 8 0.015 4 0 0 0 0 34 76890 chr16 30721976 30721976 A G rs567590891 SNORA30 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.295 76891 chr14 94528876 94528876 G A rs80071308 DDX24 Synonymous SNV T270T 0.013 0.018 0.003 5 15 7 0.013 1 0 0 0 0 10.28 76892 chr16 30735617 30735617 A G rs377094082 SRCAP Synonymous SNV S1624S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 1.154 76893 chr16 57059280 57059280 A T rs113208427 NLRC5 Nonsynonymous SNV E142V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.3 76894 chr15 68606156 68606156 C T rs201871732 ITGA11 Nonsynonymous SNV R948H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.41 76895 chr16 57060667 57060667 C T rs34984588 NLRC5 Synonymous SNV T604T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.02 76896 chr15 42193356 42193356 G T rs148605069 EHD4 Nonsynonymous SNV F371L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 76897 chr5 14741947 14741947 G C rs199961741 ANKH Nonsynonymous SNV L334V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.534 76898 chr14 94849159 94849159 C A SERPINA1 Nonsynonymous SNV G139V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 76899 chr4 108566204 108566204 T C rs35580994 PAPSS1 Synonymous SNV L420L 0.009 0.008 0.007 6 11 3 0.015 2 0 0 0 0 5.672 76900 chr16 31072620 31072620 G A rs140247361 ZNF668 Synonymous SNV P543P 0.003 0.013 0.003 4 4 5 0.01 1 0 0 0 0 7.675 76901 chr16 57406501 57406501 G A rs141505173 CX3CL1 Synonymous SNV S7S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 8.407 76902 chr15 42676689 42676689 C T rs117609395 CAPN3 Synonymous SNV C106C 0.007 0.01 0.02 3 8 4 0.008 6 0 0 0 0 Benign/Likely benign 16.45 76903 chr7 91503687 91503687 T C rs181549251 MTERF1 Nonsynonymous SNV K121E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.593 76904 chr16 31213068 31213068 C A rs375010913 PYCARD Synonymous SNV T123T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.6 76905 chr15 72186026 72186026 T C rs768741776 MYO9A Synonymous SNV Q1712Q 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 0.065 76906 chr16 31284720 31284720 A G rs200610250 ITGAM Nonsynonymous SNV K247E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 76907 chr16 314945 314945 T A rs760414255 FAM234A Nonsynonymous SNV L528Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24.6 76908 chr15 45389524 45389524 C T rs140663764 DUOX2 Synonymous SNV P1253P 0.016 0.013 0.024 8 19 5 0.021 7 0 0 0 0 Conflicting interpretations of pathogenicity 15.11 76909 chr15 45439651 45439651 C T rs143486047 DUOX1 Synonymous SNV A781A 0.02 0.013 0.014 9 24 5 0.023 4 1 0 0 0 11.68 76910 chr16 84513562 84513562 G A rs34628943 MEAK7 Nonsynonymous SNV S443L 0.028 0.023 0.068 16 33 9 0.041 20 1 1 0 0 13.12 76911 chr5 34998894 34998894 G C rs17245714 AGXT2 Nonsynonymous SNV P417R 0.063 0.06 0.105 24 74 23 0.062 31 3 1 2 0 11.87 76912 chr16 613776 613776 C T rs368085414 PRR35 Nonsynonymous SNV S161L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.97 76913 chr15 101567544 101567544 C T rs149998498 LRRK1 Synonymous SNV D828D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.53 76914 chr16 3606957 3606957 G A rs768816607 NLRC3 Nonsynonymous SNV A713V 0.008 0.005 0.003 8 9 2 0.021 1 0 0 0 0 11.94 76915 chr7 97833409 97833409 C T rs202016789 LMTK2 Nonsynonymous SNV S1465L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.38 76916 chr7 98870997 98870997 A G rs28608208 MYH16 0 0 0.19 0 0 0 0 56 0 0 5 0 14.43 76917 chr16 68373428 68373428 C T rs12926948 PRMT7 Synonymous SNV A186A 0.008 0.021 0.037 4 9 8 0.01 11 0 1 0 0 17.21 76918 chr16 427699 427699 C G rs150713114 TMEM8A Nonsynonymous SNV A91P 0.021 0.016 0.02 12 25 6 0.031 6 1 0 0 0 0.004 76919 chr15 77471894 77471894 C A rs34885462 PEAK1 Nonsynonymous SNV S792I 0.031 0.021 0.017 10 36 8 0.026 5 0 0 0 1 25.3 76920 chr7 99434078 99434078 A - rs61469810 CYP3A43 Y25Lfs*34 0.041 0.039 0.068 16 48 15 0.041 20 1 2 0 1 76921 chr15 75650903 75650903 C T rs62029711 MAN2C1 Nonsynonymous SNV R669Q 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 19.87 76922 chr16 68953056 68953056 C T rs375170838 TANGO6 Synonymous SNV T687T 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 12.75 76923 chr16 69728064 69728064 G A rs145862239 NFAT5 Nonsynonymous SNV G1221S 0.003 0.016 0 2 4 6 0.005 0 0 0 0 1 Uncertain significance 23.8 76924 chr16 69874164 69874164 A C rs757130733 WWP2 Nonsynonymous SNV D43A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 18.25 76925 chr7 99758158 99758158 G T rs149908309 GAL3ST4 Nonsynonymous SNV S285Y 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 76926 chr16 46615929 46615929 T G SHCBP1 Synonymous SNV P499P 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 0.359 76927 chr7 99998700 99998700 G A rs372286297 ZCWPW1 Synonymous SNV S628S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.341 76928 chr8 100287418 100287418 A G rs138661755 VPS13B Synonymous SNV L920L 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Benign/Likely benign 7.498 76929 chr16 476607 476607 C T RAB11FIP3 Stop gain Q201X 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 76930 chr15 79749099 79749099 A G rs770398561 MINAR1 Nonsynonymous SNV T204A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.029 76931 chr5 41018798 41018798 A G rs116499989 MROH2B Nonsynonymous SNV F890L 0.05 0.055 0.051 21 59 21 0.054 15 1 1 0 1 11.94 76932 chr16 88594594 88594594 C T rs200897341 ZFPM1 Synonymous SNV L220L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 76933 chr15 29561291 29561291 C T rs61749506 NSMCE3 Nonsynonymous SNV V207I 0.003 0.01 0.01 2 4 4 0.005 3 0 0 0 0 23.6 76934 chr15 29561811 29561811 C G rs77216990 NSMCE3 Synonymous SNV G33G 0.003 0.008 0.014 2 4 3 0.005 4 0 0 0 0 9.06 76935 chr15 29561840 29561840 T C rs78199042 NSMCE3 Nonsynonymous SNV S24G 0.003 0.008 0.014 2 4 3 0.005 4 0 0 0 0 0.249 76936 chr16 48175174 48175174 G A rs566970228 ABCC12 Synonymous SNV R122R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.543 76937 chr15 29561866 29561866 G A rs114318320 NSMCE3 Nonsynonymous SNV A15V 0.003 0.005 0.014 2 4 2 0.005 4 0 0 0 0 0.183 76938 chr5 41067259 41067259 A G rs139046598 MROH2B Nonsynonymous SNV I51T 0.006 0.018 0.014 2 7 7 0.005 4 0 0 0 0 15.97 76939 chr15 31453138 31453138 G A rs118047113 TRPM1 Nonsynonymous SNV L9F 0.021 0.013 0.024 8 25 5 0.021 7 0 0 0 0 15.66 76940 chr16 72184519 72184519 C T rs146909225 PMFBP1 Synonymous SNV G208G 0.003 0.008 0.01 5 4 3 0.013 3 0 0 0 0 8.924 76941 chr16 72822591 72822591 G A rs146849013 ZFHX3 Nonsynonymous SNV P2281L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 3.37 76942 chr15 33445999 33445999 G C rs148331737 FMN1 Nonsynonymous SNV L373V 0.005 0.008 0.02 5 6 3 0.013 6 0 0 0 0 12.56 76943 chr16 5046421 5046421 T C rs760061123 SEC14L5 Nonsynonymous SNV I247T 0.009 0.008 0.003 8 10 3 0.021 1 0 0 0 0 23.1 76944 chr16 72831357 72831357 - TTGTTGTTGTTGTTGTTGTTG ZFHX3 Q827_A828insQQQQQQQ 0.006 0 0 0 7 0 0 0 0 0 0 0 76945 chr16 50750810 50750810 A G rs104895467 NOD2 Nonsynonymous SNV N825S 0.009 0.016 0.007 3 10 6 0.008 2 0 1 0 0 Conflicting interpretations of pathogenicity, risk factor 23.6 76946 chr4 141446698 141446698 T G rs150922490 ELMOD2 Nonsynonymous SNV V39G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.21 76947 chr16 735581 735581 G A rs137988600 WDR24 Synonymous SNV C565C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.474 76948 chr15 81625176 81625176 G C rs749593481 TMC3 Nonsynonymous SNV L963V 0.004 0 0 0 5 0 0 0 0 0 0 0 11.68 76949 chr15 39879606 39879606 G T rs146738150 THBS1 Synonymous SNV T393T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.931 76950 chr16 76389400 76389400 A G rs776870562 CNTNAP4 Nonsynonymous SNV S103G 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 17.87 76951 chr4 152498962 152498962 C G rs1028774652 FAM160A1 Nonsynonymous SNV P156A 0.007 0.008 0 0 8 3 0 0 0 0 0 0 17.92 76952 chr8 113662568 113662568 C T rs140145232 CSMD3 Synonymous SNV V875V 0.012 0.003 0.003 0 14 1 0 1 0 0 0 0 3.575 76953 chr8 11618998 11618998 G C rs804285 C8orf49 Nonsynonymous SNV G26R 0 0 0.704 0 0 0 0 207 0 0 103 0 0.001 76954 chr8 11619067 11619067 A T rs56213203 C8orf49 Nonsynonymous SNV T49S 0 0 0.071 0 0 0 0 21 0 0 2 0 14.13 76955 chr16 56710987 56711001 TGCAAATGCAGAGAG - rs71149689 MT1IP 0.026 0.023 0.02 10 31 9 0.026 6 0 0 0 0 76956 chr4 154624173 154624173 C A rs5743697 TLR2 Synonymous SNV G38G 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 10.13 76957 chr4 154709910 154709910 G A rs4076441 SFRP2 Synonymous SNV F26F 0.036 0.034 0.031 15 42 13 0.038 9 1 0 0 0 4.061 76958 chr4 154709922 154709922 C T rs4075422 SFRP2 Synonymous SNV A22A 0.033 0.034 0.027 14 39 13 0.036 8 1 0 0 0 13.75 76959 chr16 57789821 57789821 C T rs141797415 KATNB1 Synonymous SNV N545N 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 Likely benign 14.25 76960 chr15 65370230 65370230 A G rs199526404 KBTBD13 Synonymous SNV G359G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 5.104 76961 chr16 81388291 81388291 C T rs201884522 GAN Synonymous SNV N188N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 13.64 76962 chr5 66461855 66461855 A G rs374916521 MAST4 Nonsynonymous SNV D2022G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 76963 chr15 65943251 65943251 T C rs146253044 SLC24A1 Nonsynonymous SNV W249R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 76964 chr17 10436860 10436860 A G rs117390537 MYH2 Nonsynonymous SNV I757T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 25.6 76965 chr17 10542708 10542708 C T rs61735353 MYH3 Synonymous SNV A1003A 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 Benign 12.3 76966 chr16 83991313 83991313 A C rs148139055 OSGIN1 Nonsynonymous SNV S13R 0.009 0.008 0.014 0 11 3 0 4 0 0 0 0 Benign 5.059 76967 chr17 10543734 10543734 C T rs138308402 MYH3 Nonsynonymous SNV R781H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 76968 chr16 626230 626230 C T rs148911709 PIGQ Synonymous SNV A306A 0.003 0.008 0.01 7 3 3 0.018 3 0 0 0 0 Likely benign 11.82 76969 chr8 125464024 125464024 C T rs1050325334 TRMT12 Nonsynonymous SNV R286W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 76970 chr15 89861829 89861829 C T rs536732038 POLG Nonsynonymous SNV R1142Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.4 76971 chr5 72865354 72865354 A T UTP15 Nonsynonymous SNV K115I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 76972 chr15 69341337 69341337 C T rs373010098 NOX5 Synonymous SNV F618F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.29 76973 chr17 1359383 1359383 C T CRK Nonsynonymous SNV R10Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 76974 chr17 13977689 13977689 C A rs141481210 COX10 Nonsynonymous SNV D31E 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Likely benign 0.095 76975 chr4 175180946 175180946 G C rs17854001 FBXO8 Synonymous SNV S120S 0.016 0.016 0.014 9 19 6 0.023 4 0 0 0 0 8.65 76976 chr4 175225400 175225400 T C rs148050333 CEP44 Synonymous SNV I129I 0.014 0.013 0.014 9 16 5 0.023 4 0 0 0 0 12.26 76977 chr15 73547047 73547047 C T rs764423647 NEO1 Nonsynonymous SNV P657S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 76978 chr8 134072465 134072465 C T rs562377138 SLA Nonsynonymous SNV V21I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.612 76979 chr15 42731750 42731750 T A rs201905598 ZNF106 Nonsynonymous SNV E504V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 76980 chr15 74472522 74472522 C T rs145614612 STRA6 Nonsynonymous SNV G635S 0.02 0.023 0.014 4 23 9 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.013 76981 chr15 43028832 43028832 C G rs180857061 CDAN1 Synonymous SNV S79S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 16.33 76982 chr16 87637894 87637908 CTGCTGCTGCTGCTG - JPH3 A153_A157del 0.002 0 0 0 2 0 0 0 0 0 0 0 76983 chr16 87637908 87637908 - CTGCTGCTG JPH3 A157_V158insAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 76984 chr16 87799414 87799414 C T rs138881765 KLHDC4 Nonsynonymous SNV R28H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 29.7 76985 chr17 1703452 1703452 G A rs139637633 SMYD4 Synonymous SNV C412C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.628 76986 chr8 141566019 141566019 C T rs144695739 AGO2 Synonymous SNV P415P 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 18.54 76987 chr15 93552488 93552488 C T rs34315566 CHD2 Synonymous SNV I1509I 0.017 0.01 0.014 6 20 4 0.015 4 0 0 0 1 Benign 18.96 76988 chr16 88496294 88496294 G C ZNF469 Nonsynonymous SNV E806Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.92 76989 chr16 68597572 68597572 C T rs13334384 ZFP90 Synonymous SNV S294S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 8.991 76990 chr16 88497626 88497626 G C ZNF469 Nonsynonymous SNV A1250P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.626 76991 chr4 186096997 186096997 T C rs139917908 CFAP97 Synonymous SNV L421L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.814 76992 chr15 76726530 76726530 T C rs35382573 SCAPER Nonsynonymous SNV N821S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.001 76993 chr15 91545411 91545411 C T rs139709507 VPS33B Nonsynonymous SNV S398N 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.7 76994 chr4 186329169 186329169 G C UFSP2 Nonsynonymous SNV R348G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 76995 chr16 70395369 70395369 C T rs1055783 DDX19A Synonymous SNV P114P 0.015 0.026 0.024 8 18 10 0.021 7 0 0 0 0 8.454 76996 chr8 143784102 143784102 A G rs35386446 LNCOC1 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 2.551 76997 chr16 1034726 1034726 G C rs778698678 SOX8 Synonymous SNV P227P 0.008 0 0.007 2 9 0 0.005 2 0 0 0 0 8.366 76998 chr16 1034730 1034730 A C SOX8 Nonsynonymous SNV T229P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.5 76999 chr15 45436245 45436245 C T rs143304688 DUOX1 Stop gain Q650X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 44 77000 chr5 82406931 82406931 T C rs61762970 XRCC4 Nonsynonymous SNV L75S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.08 77001 chr16 70699387 70699387 C T rs145795157 MTSS2 Synonymous SNV E370E 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 16.18 77002 chr5 82817085 82817085 T A VCAN Nonsynonymous SNV V987E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.933 77003 chr17 18064722 18064722 C T rs140029076 MYO15A Nonsynonymous SNV L3160F 0.006 0.005 0.007 3 7 2 0.008 2 1 0 0 0 Conflicting interpretations of pathogenicity 22 77004 chr17 18075051 18075051 G A rs79230542 MYO15A Synonymous SNV A3394A 0.006 0.005 0.007 3 7 2 0.008 2 1 0 0 0 Conflicting interpretations of pathogenicity 15.63 77005 chr16 88804726 88804726 C T rs142027562 PIEZO1 Nonsynonymous SNV G253R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 77006 chr15 45814263 45814263 T C rs143806143 SLC30A4 Nonsynonymous SNV N97S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.498 77007 chr8 144649541 144649541 - C rs551319836 MROH6 Frameshift insertion C677Lfs*63 0.013 0.018 0.119 4 15 7 0.01 35 5 3 6 1 77008 chr17 18150088 18150090 CTC - rs139095003 FLII E902del 0.007 0.005 0.007 2 8 2 0.005 2 1 0 0 0 77009 chr15 48063734 48063734 C G rs138853699 SEMA6D Nonsynonymous SNV Q930E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 77010 chr16 11369822 11369822 G A rs115686767 PRM2 Synonymous SNV P96P 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 3.857 77011 chr16 11369940 11369940 C G rs201933708 PRM2 Synonymous SNV P96P 0.009 0 0.003 2 10 0 0.005 1 0 0 0 0 6.25 77012 chr16 72135487 72135487 C T rs36064538 DHX38 Nonsynonymous SNV T492M 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 22.9 77013 chr16 10788652 10788652 C T rs61731533 TEKT5 Nonsynonymous SNV V27I 0.007 0.003 0.01 5 8 1 0.013 3 0 0 0 0 0.002 77014 chr15 83518518 83518518 G A rs34287296 HOMER2 Synonymous SNV D327D 0.008 0.008 0.02 5 9 3 0.013 6 0 0 0 0 Benign 7.721 77015 chr15 83532943 83532943 G A rs11629943 HOMER2 Synonymous SNV I121I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 14.96 77016 chr15 84257493 84257493 G A rs117673766 SH3GL3 Nonsynonymous SNV V201I 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 1.353 77017 chr16 11220123 11220123 G A rs75790312 CLEC16A Nonsynonymous SNV A903T 0.003 0.008 0 7 4 3 0.018 0 0 0 0 0 5.448 77018 chr8 144822037 144822037 G T rs7831467 FAM83H-AS1 0 0 0.255 0 0 0 0 75 0 0 13 0 8.344 77019 chr8 144873475 144873475 G A rs146664605 SCRIB Nonsynonymous SNV P1584L 0.02 0.018 0.034 15 24 7 0.038 10 0 0 0 0 11.91 77020 chr8 144874078 144874078 C T rs117338714 SCRIB Nonsynonymous SNV G1555S 0.039 0.034 0.048 17 46 13 0.044 14 4 1 0 2 10.24 77021 chr16 74726270 74726270 T G rs55929310 MLKL Nonsynonymous SNV M169L 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 0.002 77022 chr16 74729501 74729501 C G rs34251827 MLKL Nonsynonymous SNV S52T 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 0.002 77023 chr8 144892774 144892774 C T rs201730848 SCRIB Nonsynonymous SNV G469S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 77024 chr16 11773436 11773436 G A rs757576941 TXNDC11 Nonsynonymous SNV A379V 0.002 0 0 0 2 0 0 0 0 0 0 0 24 77025 chr16 1392220 1392220 G A rs151024049 BAIAP3 Nonsynonymous SNV G298E 0.003 0 0 0 4 0 0 0 0 0 0 0 25.1 77026 chr15 55652719 55652719 A G rs34958422 CCPG1 Nonsynonymous SNV Y418H 0.005 0.005 0.017 4 6 2 0.01 5 0 0 0 0 0.066 77027 chr15 55652845 55652845 A G rs11545679 CCPG1 Synonymous SNV L376L 0.005 0.005 0.014 4 6 2 0.01 4 0 0 0 0 0.051 77028 chr5 102203032 102203032 G C rs2230458 PAM Nonsynonymous SNV V49L 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 Benign 1.594 77029 chr16 1484676 1484676 C T rs763979150 CCDC154 Nonsynonymous SNV A624T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 19.11 77030 chr8 145094857 145094857 G A rs199507567 SPATC1 Nonsynonymous SNV E87K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 26.3 77031 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAG MYH3 T202_G203insSWPPAEAQAQASALTLPSCQQEFCYEIKH 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 77032 chr5 112769642 112769642 T C rs752118875 TSSK1B Nonsynonymous SNV T299A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.576 77033 chr15 62256131 62256131 A G rs114941240 VPS13C Synonymous SNV D1035D 0.007 0.01 0.017 1 8 4 0.003 5 0 0 1 0 Benign 0.131 77034 chr8 145535418 145535418 C G rs782355683 HSF1 Synonymous SNV L252L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.131 77035 chr16 1837678 1837678 C T rs139942386 NUBP2 Nonsynonymous SNV A112V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.1 77036 chr8 145657761 145657761 G A rs34599999 TONSL Synonymous SNV P1214P 0.007 0.005 0.017 2 8 2 0.005 5 0 0 0 0 9.555 77037 chr17 2601507 2601507 G C rs759921686 CLUH Synonymous SNV T548T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 77038 chr16 1869974 1869974 G A rs115389912 HAGH Nonsynonymous SNV S119L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.5 77039 chr15 63950847 63950847 T C rs752305949 HERC1 Synonymous SNV A3165A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.412 77040 chr5 118469561 118469561 G A rs139365266 DMXL1 Nonsynonymous SNV V648I 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 19.73 77041 chr16 1706242 1706242 C A rs373720836 CRAMP1 Nonsynonymous SNV P495H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.57 77042 chr8 145742479 145742479 C T rs4251688 RECQL4 Synonymous SNV P103P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.38 77043 chr15 64970357 64970357 T A rs150390373 ZNF609 Nonsynonymous SNV Y1149N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 77044 chr16 1823054 1823054 C G rs11552432 MRPS34 Nonsynonymous SNV E23Q 0.009 0.003 0.017 11 11 1 0.028 5 0 0 0 0 25.8 77045 chr17 27044463 27044463 C T rs371681785 RAB34 Synonymous SNV P88P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 77046 chr5 121759069 121759069 G A rs201152226 SNCAIP Nonsynonymous SNV V213M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 77047 chr5 121759218 121759218 A C rs147831994 SNCAIP Synonymous SNV T262T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.005 77048 chr17 27807416 27807416 A G rs56387760 TAOK1 Synonymous SNV T160T 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 5.458 77049 chr15 65394577 65394577 C - UBAP1L S189Tfs*80 0 0 0 1 0 0 0.003 0 0 0 0 0 77050 chr5 126250812 126250812 C T rs34821177 MARCHF3 Nonsynonymous SNV R68Q 0.013 0.016 0.044 8 15 6 0.021 13 0 0 0 1 23.3 77051 chr16 2051014 2051014 C T rs368066389 ZNF598 Nonsynonymous SNV E398K 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 1 24.1 77052 chr15 67687820 67687820 C T rs139553529 IQCH Synonymous SNV T608T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.797 77053 chr16 2030061 2030061 G A rs200679548 NOXO1 Nonsynonymous SNV R179W 0.002 0 0 0 2 0 0 0 0 0 0 0 13 77054 chr15 90904468 90904468 C T rs139475252 ZNF774 Nonsynonymous SNV R469C 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 27.3 77055 chr17 17925164 17925164 C T rs62073570 ATPAF2 Nonsynonymous SNV V171M 0.009 0.005 0.01 5 10 2 0.013 3 0 0 0 0 Benign/Likely benign 18.72 77056 chr15 68500574 68500574 C T rs148949069 CLN6 Synonymous SNV L280L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 13.1 77057 chr16 85135838 85135838 G C rs61740642 FAM92B Nonsynonymous SNV D211E 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 23.9 77058 chr15 91017304 91017304 C T rs142095701 IQGAP1 Synonymous SNV D838D 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 14.01 77059 chr15 91029318 91029318 A G rs114361502 IQGAP1 Synonymous SNV E1326E 0.011 0.008 0.01 1 13 3 0.003 3 0 0 0 0 Benign 10.82 77060 chr8 18725430 18725430 G A rs201772657 PSD3 Nonsynonymous SNV T430I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 77061 chr16 85706022 85706022 C T rs889084387 GSE1 Synonymous SNV S1073S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.21 77062 chr15 91419548 91419548 C T rs148110342 FURIN Nonsynonymous SNV R81C 0.009 0.008 0.01 2 10 3 0.005 3 0 0 0 0 23.2 77063 chr16 21123123 21123123 C A rs146094160 DNAH3 Nonsynonymous SNV K581N 0.012 0.008 0.01 7 14 3 0.018 3 0 0 0 0 13.85 77064 chr8 21550838 21550838 C T rs74640671 GFRA2 Synonymous SNV S316S 0.012 0.003 0.017 3 14 1 0.008 5 0 0 0 0 Benign 19.85 77065 chr17 18148534 18148534 C T rs8821 FLII Nonsynonymous SNV R1188H 0.017 0.021 0.017 4 20 8 0.01 5 0 0 0 0 28.4 77066 chr15 71184590 71184590 C A rs760840980 THAP10 Nonsynonymous SNV A8S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 77067 chr5 37303393 37303393 G A rs745460418 NUP155 Nonsynonymous SNV R1032C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 77068 chr16 2142942 2142942 C T rs142616270 LOC105371049 0.014 0.016 0.014 1 17 6 0.003 4 0 1 0 0 Benign 5.781 77069 chr16 22130305 22130305 A C rs764076482 VWA3A Nonsynonymous SNV Q358P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.001 77070 chr17 33586207 33586207 T C rs148155981 SLFN5 Synonymous SNV G166G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 77071 chr8 22476754 22476754 C T rs75182495 CCAR2 Synonymous SNV A870A 0.017 0.008 0.01 11 20 3 0.028 3 0 0 0 0 16.55 77072 chr5 137524752 137524752 G A rs372760634 CDC23 Nonsynonymous SNV P570L 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 23.5 77073 chr16 2314610 2314610 A G RNPS1 Nonsynonymous SNV L12P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.3 77074 chr15 74425498 74425498 C T ISLR2 Synonymous SNV L135L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 77075 chr16 23702180 23702180 C G rs140265938 ERN2 Nonsynonymous SNV R866T 0.019 0.01 0.01 4 22 4 0.01 3 0 0 0 0 0.018 77076 chr16 11096975 11096975 C T rs754552566 CLEC16A Synonymous SNV L370L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 77077 chr5 139743389 139743389 C T rs34390520 SLC4A9 Nonsynonymous SNV L375F 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 24.7 77078 chr5 52363039 52363039 C T rs202061375 ITGA2 Nonsynonymous SNV L679F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.92 77079 chr8 27925185 27925185 G A rs74462442 NUGGC Nonsynonymous SNV A186V 0.037 0.023 0.051 7 44 9 0.018 15 0 0 0 0 2.937 77080 chr5 140182363 140182363 G A rs144958581 PCDHA3 Synonymous SNV E527E 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.123 77081 chr5 140182364 140182364 C G rs781939384 PCDHA3 Nonsynonymous SNV L528V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 16.93 77082 chr16 1255154 1255154 T C CACNA1H Nonsynonymous SNV V831A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 77083 chr5 140182366 140182366 A G rs782055202 PCDHA3 Synonymous SNV L528L 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.009 77084 chr8 31015026 31015026 G A rs766042685 WRN Nonsynonymous SNV R1321Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 77085 chr16 88930705 88930705 G C rs758401342 PABPN1L Nonsynonymous SNV H217D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.429 77086 chr8 32505273 32505273 G A rs769570588 NRG1 Nonsynonymous SNV A13T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 77087 chr16 14015939 14015939 C T rs191886782 ERCC4 Nonsynonymous SNV R87C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.2 77088 chr17 38319977 38319977 T G rs144428076 CASC3 Synonymous SNV V343V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 11.69 77089 chr16 30594056 30594056 C A rs138958454 ZNF785 Nonsynonymous SNV G348V 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 22.3 77090 chr8 37822865 37822865 C T rs143480096 ADRB3 Nonsynonymous SNV A375T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.86 77091 chr17 38519227 38519227 C T rs573445596 GJD3 Nonsynonymous SNV G281S 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 17.92 77092 chr16 29675855 29675855 T C rs34710374 SPN Nonsynonymous SNV V269A 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 20.9 77093 chr8 38458371 38458371 G T rs3802323 RNF5P1 0 0 0.364 0 0 0 0 107 0 0 19 0 14.6 77094 chr16 89763973 89763973 A G rs61752579 SPATA2L Synonymous SNV S348S 0.009 0.018 0.003 4 11 7 0.01 1 0 0 0 0 0.003 77095 chr16 89764261 89764261 C T rs115962904 SPATA2L Synonymous SNV S252S 0.009 0.018 0.007 4 11 7 0.01 2 0 0 0 0 10.2 77096 chr5 140562634 140562634 T C rs61743222 PCDHB16 Nonsynonymous SNV V167A 0.008 0 0.003 7 9 0 0.018 1 0 0 0 0 20.6 77097 chr17 38954612 38954612 C G rs139807956 KRT28 Nonsynonymous SNV V189L 0.009 0.005 0.014 1 11 2 0.003 4 0 0 0 0 23.8 77098 chr8 39022325 39022325 G A rs375823664 ADAM32 Nonsynonymous SNV V220I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 77099 chr8 39312886 39312886 G A rs10097769 ADAM3A 0 0 0.643 0 0 0 0 189 0 0 88 0 5.445 77100 chr8 39331043 39331043 C T rs7823494 ADAM3A 0 0 0.116 0 0 0 0 34 0 0 11 0 0.602 77101 chr8 39331093 39331093 T C rs7845028 ADAM3A 0 0 0.218 0 0 0 0 64 0 0 22 0 2.379 77102 chr8 39335392 39335392 T C rs10105846 ADAM3A 0 0 0.044 0 0 0 0 13 0 0 4 0 3.682 77103 chr8 39535051 39535051 C T rs151306158 ADAM18 Nonsynonymous SNV R519W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 77104 chr16 30545631 30545631 C T rs756222856 ZNF747 Nonsynonymous SNV E124K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.9 77105 chr17 27943335 27943335 T C rs770617846 CORO6 Nonsynonymous SNV R108G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.9 77106 chr8 55372085 55372085 T A rs267607083 SOX17 Nonsynonymous SNV Y259N 0.008 0.008 0.01 6 9 3 0.015 3 0 0 0 0 Benign/Likely benign 24.2 77107 chr16 31072723 31072723 G A rs780635131 ZNF668 Nonsynonymous SNV A509V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.436 77108 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGT MYH3 Stop gain G203Pfs*18 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 77109 chr16 15818186 15818186 C T rs113302393 MYH11 Synonymous SNV K1399K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 15.08 77110 chr8 56363158 56363158 C T rs6473987 SBF1P1 0 0 0.109 0 0 0 0 32 0 0 4 0 6.594 77111 chr8 56363503 56363503 G A rs2975987 SBF1P1 0 0 0.146 0 0 0 0 43 0 0 4 0 0.236 77112 chr8 56363564 56363564 C T rs2939632 SBF1P1 0 0 0.119 0 0 0 0 35 0 0 4 0 10.8 77113 chr8 56363918 56363918 G C rs2975986 SBF1P1 0 0 0.092 0 0 0 0 27 0 0 4 0 2.645 77114 chr8 56364087 56364087 G A rs2975985 SBF1P1 0 0 0.075 0 0 0 0 22 0 0 4 0 2.651 77115 chr8 56364179 56364179 G C rs2929050 SBF1P1 0 0 0.33 0 0 0 0 97 0 0 20 0 0.38 77116 chr17 11459147 11459147 C T rs185956842 SHISA6 Nonsynonymous SNV P297L 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 33 77117 chr8 56364191 56364191 A G rs2939633 SBF1P1 0 0 0.34 0 0 0 0 100 0 0 20 0 4.351 77118 chr8 56364593 56364593 C G rs2939635 SBF1P1 0 0 0.252 0 0 0 0 74 0 0 21 0 3.344 77119 chr8 56365111 56365111 A G rs867532 SBF1P1 0 0 0.224 0 0 0 0 66 0 0 20 0 3.075 77120 chr8 56365612 56365612 A G rs76089029 SBF1P1 0 0 0.027 0 0 0 0 8 0 0 0 0 15.01 77121 chr17 30527999 30527999 G A rs114899192 RHOT1 Synonymous SNV Q375Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.127 77122 chr15 85447434 85447434 G T rs45523532 SLC28A1 Nonsynonymous SNV A190S 0.009 0.013 0.017 6 11 5 0.015 5 1 0 0 0 0.003 77123 chr16 16173221 16173221 C T rs8187863 ABCC1 Synonymous SNV S667S 0.017 0.031 0.01 4 20 12 0.01 3 0 0 0 0 9.748 77124 chr15 85669452 85669452 C T rs16974908 PDE8A Synonymous SNV N654N 0.01 0.005 0.017 8 12 2 0.021 5 0 0 0 0 7.114 77125 chr17 12626293 12626293 C T rs373364614 MYOCD Nonsynonymous SNV P128L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 31 77126 chr17 13400057 13400057 G A rs139000519 HS3ST3A1 Synonymous SNV P226P 0.003 0.005 0 6 4 2 0.015 0 0 0 0 0 11.3 77127 chr16 3293257 3293257 C A rs61732874 MEFV Nonsynonymous SNV A744S 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 77128 chr17 1386932 1386932 C T rs140549082 MYO1C Nonsynonymous SNV V107I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 20.9 77129 chr16 3706668 3706668 A C rs34923865 DNASE1 Nonsynonymous SNV Y117S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 25.1 77130 chr17 3324311 3324311 G A OR3A3 Synonymous SNV Q150Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.056 77131 chr8 67109101 67109101 G T rs11990370 LINC00967 0 0 0.051 0 0 0 0 15 0 0 0 0 4.717 77132 chr8 67109225 67109225 T C rs1044938 LINC00967 0 0 0.051 0 0 0 0 15 0 0 0 0 3.574 77133 chr8 67109297 67109297 A G rs1044942 LINC00967 0 0 0.051 0 0 0 0 15 0 0 0 0 1.755 77134 chr8 67109521 67109521 A - rs3215433 LINC00967 0 0 0.068 0 0 0 0 20 0 0 2 0 77135 chr16 4163754 4163754 T G rs52791170 ADCY9 Nonsynonymous SNV K564Q 0.014 0.005 0.007 1 17 2 0.003 2 1 0 0 0 Likely benign 23.4 77136 chr16 4164780 4164780 C T ADCY9 Nonsynonymous SNV G222R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 77137 chr17 1565211 1565211 T C rs118000367 PRPF8 Synonymous SNV Q1337Q 0.013 0.047 0.007 9 15 18 0.023 2 0 0 0 0 Benign 0.022 77138 chr17 15950396 15950396 C T rs201721277 NCOR1 Nonsynonymous SNV R2080H 0 0.005 0 0 0 2 0 0 0 0 0 0 32 77139 chr8 69017447 69017447 T G PREX2 Nonsynonymous SNV S930R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.915 77140 chr5 145890169 145890169 C T rs62372828 TCERG1 Synonymous SNV P1066P 0.011 0.013 0.01 0 13 5 0 3 0 0 0 0 3.347 77141 chr16 3544586 3544586 C T rs61731451 C16orf90 Nonsynonymous SNV R113H 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23 77142 chr17 1649022 1649022 C T rs35259159 SERPINF2 Synonymous SNV A62A 0.031 0.021 0.031 5 36 8 0.013 9 0 0 0 0 Benign 9.315 77143 chr8 73121384 73121384 - A rs398008295 LOC392232 0 0 0.116 0 0 0 0 34 0 0 15 0 77144 chr16 449067 449067 G A rs146361357 NME4 Nonsynonymous SNV V57M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 77145 chr17 34077171 34077171 G A rs138166711 GAS2L2 Synonymous SNV A184A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.036 77146 chr16 460333 460333 A G rs201481606 DECR2 Nonsynonymous SNV N143S 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 17 77147 chr16 427577 427577 C T rs549782213 PGAP6 Nonsynonymous SNV R103H 0.005 0 0 4 6 0 0.01 0 0 0 0 0 23.5 77148 chr16 4606872 4606872 C T rs937658464 C16orf96 Nonsynonymous SNV R128W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 31 77149 chr8 75460784 75460784 - G rs111293293 MIR5681A 0 0 0.616 0 0 0 0 181 0 0 90 0 77150 chr8 75460789 75460789 - G rs150990986 MIR5681A, MIR5681B 0 0 0.711 0 0 0 0 209 0 0 104 0 77151 chr8 81430806 81430806 G T rs190969114 ZBTB10 Nonsynonymous SNV W710L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 77152 chr5 149275925 149275925 T C rs139697733 PDE6A Synonymous SNV P538P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.513 77153 chr16 4793111 4793111 A T rs35021889 C16orf71 Nonsynonymous SNV N284I 0.008 0.005 0 6 9 2 0.015 0 0 0 0 0 16.93 77154 chr8 86180719 86180719 A G rs75353219 CA13 Nonsynonymous SNV T178A 0.015 0.01 0.014 4 18 4 0.01 4 0 0 1 0 17.48 77155 chr8 87151857 87151857 G A rs142957681 ATP6V0D2 Synonymous SNV T158T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.859 77156 chr16 4862196 4862196 C T rs144400731 GLYR1 Synonymous SNV Q304Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.39 77157 chr17 3594959 3594959 G A rs773586913 P2RX5 Synonymous SNV A89A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.772 77158 chr16 20974740 20974740 C T rs111539520 DNAH3 Nonsynonymous SNV R3443Q 0.012 0.005 0.017 1 14 2 0.003 5 1 0 0 0 Likely benign 3.792 77159 chr16 20998720 20998720 G A rs111770788 DNAH3 Synonymous SNV F2265F 0.016 0.008 0.017 2 19 3 0.005 5 1 0 0 0 Likely benign 11.37 77160 chr17 18027834 18027834 G A rs202148411 MYO15A Nonsynonymous SNV R1216H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.73 77161 chr17 36484134 36484134 G A rs751732571 GPR179 Nonsynonymous SNV S1773F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 77162 chr17 36499551 36499551 T A GPR179 Nonsynonymous SNV Q41L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 20.3 77163 chr16 49669723 49669723 C T rs771960577 ZNF423 Nonsynonymous SNV D997N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 77164 chr17 36891506 36891506 G A rs753673427 PCGF2 Synonymous SNV V335V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 77165 chr8 95172254 95172254 C T rs73695135 CDH17 Nonsynonymous SNV R499H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.52 77166 chr17 37119223 37119223 C T rs200628064 FBXO47 Nonsynonymous SNV R19H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 32 77167 chr17 19284254 19284254 C T rs150906956 MAPK7 Synonymous SNV D105D 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.349 77168 chr16 53341803 53341803 A G rs61747411 CHD9 Nonsynonymous SNV T2331A 0.05 0.065 0.058 28 59 25 0.072 17 1 2 0 0 4.387 77169 chr8 98656966 98656966 G T rs17854373 MTDH Nonsynonymous SNV A78S 0.029 0.026 0.054 12 34 10 0.031 16 0 0 1 1 25.3 77170 chr17 37815304 37815304 G C rs11556624 STARD3 Nonsynonymous SNV G198A 0.008 0.018 0.003 7 9 7 0.018 1 0 0 0 0 26.3 77171 chr8 98703317 98703317 A G rs17854374 MTDH Nonsynonymous SNV T295A 0.046 0.047 0.054 18 54 18 0.046 16 0 0 1 2 5.403 77172 chr16 55705838 55705838 G A rs11568343 SLC6A2 Nonsynonymous SNV C27Y 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Likely benign 1.027 77173 chr15 91419098 91419098 C T rs16944971 FURIN Nonsynonymous SNV A43V 0.006 0 0.003 8 7 0 0.021 1 0 0 0 1 9.781 77174 chr5 90016778 90016778 C T rs114137750 ADGRV1 Nonsynonymous SNV A3217V 0.01 0.008 0.003 11 12 3 0.028 1 1 0 0 0 Conflicting interpretations of pathogenicity 23.6 77175 chr17 38510715 38510715 T C rs148999974 RARA Synonymous SNV D226D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.487 77176 chr15 91434277 91434277 C T rs2229074 FES Synonymous SNV H404H 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 11.82 77177 chr16 256119 256119 C T rs150359968 LUC7L Nonsynonymous SNV E132K 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24 77178 chr15 91436965 91436965 C T rs2227989 FES Synonymous SNV A651A 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 20.3 77179 chr17 39190939 39190939 G A rs140828985 KRTAP1-3 Synonymous SNV C45C 0.023 0.016 0.02 7 27 6 0.018 6 0 0 0 0 6.719 77180 chr9 104309206 104309206 G A rs147124109 RNF20 Synonymous SNV R284R 0 0 0.01 0 0 0 0 3 0 0 0 0 13.27 77181 chr16 28911946 28911946 G A rs151309999 ATP2A1 Synonymous SNV P478P 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 10.1 77182 chr9 107578620 107578620 G A rs76881554 ABCA1 Nonsynonymous SNV S1181F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.4 77183 chr5 160114989 160114989 G A rs371916400 ATP10B Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.126 77184 chr9 108282855 108282855 A G rs7357632 RALGAPA1P1 0 0 0.32 0 0 0 0 94 0 0 33 0 4.675 77185 chr17 42338993 42338993 C T rs45562031 SLC4A1 Nonsynonymous SNV E40K 0.007 0.018 0.007 0 8 7 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.85 77186 chr9 108284699 108284699 G A rs62575103 RALGAPA1P1 0 0 0.177 0 0 0 0 52 0 0 9 0 5.119 77187 chr9 108286758 108286758 C T rs28542455 RALGAPA1P1 0 0 0.068 0 0 0 0 20 0 0 1 0 5.034 77188 chr9 108288060 108288060 T G rs2518112 RALGAPA1P1 0 0 0.136 0 0 0 0 40 0 0 16 0 3.518 77189 chr9 109689873 109689873 G A ZNF462 Nonsynonymous SNV R1227Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 77190 chr16 58752137 58752137 C T rs139235307 GOT2 Nonsynonymous SNV R179H 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 26.4 77191 chr17 2601266 2601266 C T rs145919520 CLUH Nonsynonymous SNV A629T 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 17.33 77192 chr17 42786711 42786711 G A rs34159181 DBF4B Nonsynonymous SNV S20N 0.011 0.018 0 2 13 7 0.005 0 0 0 0 0 10.71 77193 chr16 614837 614837 G A rs557876445 PRR35 Nonsynonymous SNV A416T 0.003 0 0 0 4 0 0 0 0 0 0 0 11.68 77194 chr17 26370142 26370142 T C NLK Synonymous SNV A81A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.254 77195 chr17 42927723 42927723 G A rs2231650 HIGD1B Nonsynonymous SNV D87N 0.018 0.026 0 2 21 10 0.005 0 0 0 0 0 18.87 77196 chr9 112017857 112017857 C T rs193240478 EPB41L4B Nonsynonymous SNV R368Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 77197 chr9 113148268 113148268 T C rs144996297 SVEP1 Nonsynonymous SNV K3383E 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 23.8 77198 chr17 26816348 26816348 G A rs11568469 SLC13A2 Synonymous SNV V73V 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 8.728 77199 chr16 67235651 67235651 C T rs79736950 ELMO3 Nonsynonymous SNV R309W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 77200 chr17 26901167 26901167 G C ALDOC Synonymous SNV A239A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.62 77201 chr17 27050714 27050715 AT - rs146901849 SNORD4B 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 77202 chr16 67865937 67865937 T C rs11558533 CENPT Nonsynonymous SNV R122G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 21 77203 chr17 4448967 4448967 G A rs139356015 MYBBP1A Nonsynonymous SNV R671W 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 35 77204 chr16 1254366 1254366 C A rs747178657 CACNA1H Nonsynonymous SNV R787S 0 0 0 1 0 0 0.003 0 0 0 0 0 22 77205 chr17 27228578 27228578 C T DHRS13 Synonymous SNV S101S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 77206 chr16 68405140 68405140 C T rs191852865 SMPD3 Synonymous SNV G315G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.581 77207 chr16 31382470 31382470 A G rs138137251 ITGAX Synonymous SNV Q592Q 0.025 0.018 0.014 12 29 7 0.031 4 0 0 0 0 4.725 77208 chr16 67876826 67876826 - CAG THAP11 Q132_S133insQ 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 77209 chr16 69008037 69008037 C T rs3743678 TANGO6 Synonymous SNV V936V 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 19.65 77210 chr16 69493016 69493016 A G rs35730706 CYB5B Synonymous SNV T118T 0.028 0.034 0.017 18 33 13 0.046 5 0 1 0 1 7.45 77211 chr17 30615818 30615818 A G RHBDL3 Nonsynonymous SNV N40S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.82 77212 chr16 684560 684560 C T rs373277007 METTL26 Nonsynonymous SNV R175Q 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 0.132 77213 chr5 176885326 176885326 C T rs35328350 DBN1 Synonymous SNV E235E 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 7.961 77214 chr5 176886119 176886119 G A rs34692220 DBN1 Nonsynonymous SNV P101L 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 15.53 77215 chr16 3458609 3458609 G A rs11640177 ZNF174 Nonsynonymous SNV R305Q 0.011 0.008 0.003 8 13 3 0.021 1 0 0 0 0 16.17 77216 chr16 1576669 1576669 G A rs774864079 IFT140 Nonsynonymous SNV P843L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 77217 chr5 178391820 178391820 C T rs201056410 ZNF454 Stop gain R139X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 77218 chr17 46973071 46973071 G C rs13905 ATP5MC1 Synonymous SNV L117L 0.012 0.018 0.003 3 14 7 0.008 1 0 0 0 0 11.08 77219 chr17 40958776 40958776 C A rs199570963 CNTD1 Nonsynonymous SNV P139H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.8 77220 chr17 47021314 47021314 C T rs61745934 SNF8 Synonymous SNV T26T 0.012 0.018 0.003 3 14 7 0.008 1 0 0 0 0 18.54 77221 chr16 71571282 71571282 A G rs117753658 CHST4 Synonymous SNV Q234Q 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 0.002 77222 chr9 117390479 117390479 G A rs143980128 TMEM268 Synonymous SNV A142A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.053 77223 chr9 117808721 117808721 C T rs61734387 TNC Nonsynonymous SNV R1698Q 0.032 0.036 0.031 8 37 14 0.021 9 0 0 0 0 Benign 34 77224 chr16 717547 717547 C T rs775832427 WDR90 Synonymous SNV A1735A 0.003 0 0 0 4 0 0 0 0 0 0 0 12.67 77225 chr16 4387426 4387426 G A rs140403969 GLIS2 Synonymous SNV T492T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 8.485 77226 chr16 1706231 1706231 C A CRAMP1 Synonymous SNV P491P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.868 77227 chr16 72154010 72154010 C T rs72787072 PMFBP1 Nonsynonymous SNV R791H 0.017 0.018 0.014 9 20 7 0.023 4 0 1 0 0 2.334 77228 chr5 131007373 131007373 C T rs757329513 FNIP1 Nonsynonymous SNV D894N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.99 77229 chr17 41343442 41343442 G A rs202122812 NBR1 Nonsynonymous SNV R285Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 77230 chr16 1816739 1816739 G A rs117342699 MAPK8IP3 Synonymous SNV S978S 0.014 0.01 0.01 2 16 4 0.005 3 0 0 0 0 3.948 77231 chr9 119160748 119160748 T G rs8653 PAPPA-AS1 0 0 0.286 0 0 0 0 84 0 0 13 0 4.391 77232 chr16 72822013 72822033 GCTGCTGCTGCTGTAGTTGCC - rs774837696 ZFHX3 R2467_Q2473del 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 77233 chr17 48470137 48470137 T A rs774577619 LRRC59 Nonsynonymous SNV K96M 0 0.003 0 0 0 1 0 0 0 0 0 0 25 77234 chr16 739557 739557 G A rs143404878 WDR24 Synonymous SNV P28P 0.003 0 0 0 4 0 0 0 0 0 0 0 10.85 77235 chr5 132219077 132219077 T C rs139490054 AFF4 Nonsynonymous SNV T1107A 0.008 0.023 0 2 9 9 0.005 0 0 0 0 0 Benign 23.7 77236 chr9 123605139 123605139 C A rs113345820 PSMD5 Nonsynonymous SNV A17S 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 23.7 77237 chr17 42235260 42235260 A G rs114140980 HROB Synonymous SNV A610A 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 0.485 77238 chr9 123605712 123605727 GAAGGCGTGAGTAATA - rs29001669 CUTALP 0 0 0.408 0 0 0 0 120 0 0 49 0 77239 chr5 133481435 133481435 C T rs28585372 TCF7 Nonsynonymous SNV T245I 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 11.27 77240 chr16 19088665 19088665 A G rs139931303 COQ7 Nonsynonymous SNV H144R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.5 77241 chr16 747187 747187 C T rs551918404 FBXL16 Synonymous SNV P73P 0.005 0 0 3 6 0 0.008 0 0 0 0 0 8.772 77242 chr16 1910418 1910418 G T rs143362679 MEIOB Nonsynonymous SNV S106R 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 12.53 77243 chr9 124522397 124522397 G A rs41273440 DAB2IP Synonymous SNV K159K 0 0.003 0.014 0 0 1 0 4 0 0 0 0 11.3 77244 chr17 48757257 48757257 A G rs202037627 ABCC3 Synonymous SNV T1268T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.762 77245 chr17 35981182 35981182 G A DDX52 Synonymous SNV I497I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.44 77246 chr17 35981468 35981468 A G rs867524683 DDX52 Nonsynonymous SNV I442T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28 77247 chr17 505129 505129 A C rs61644407 VPS53 Nonsynonymous SNV L346R 0.032 0.036 0.051 15 38 14 0.038 15 2 0 0 0 Benign 9.446 77248 chr16 19896546 19896546 G - GPRC5B P124Lfs*17 0 0 0 2 0 0 0.005 0 0 0 0 0 77249 chr16 20043090 20043090 G A rs138883892 GPR139 Synonymous SNV D343D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.296 77250 chr16 726735 726735 C T rs141673650 RHBDL1 Nonsynonymous SNV R154W 0.007 0.005 0.003 1 8 2 0.003 1 1 0 0 0 28.2 77251 chr17 43323081 43323081 G A rs145693762 FMNL1 Nonsynonymous SNV R992H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 77252 chr16 75146360 75146360 C T rs142263929 LDHD Nonsynonymous SNV R473Q 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 23.7 77253 chr17 36734938 36734938 G T rs34134205 SRCIN1 Synonymous SNV R43R 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 8.829 77254 chr9 126135490 126135490 G A rs144714250 CRB2 Nonsynonymous SNV G894S 0.027 0.036 0.024 8 32 14 0.021 7 0 0 1 0 0.322 77255 chr16 53860139 53860139 G A rs145884431 FTO Nonsynonymous SNV A137T 0.011 0.013 0.01 3 13 5 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.82 77256 chr17 4496261 4496261 C A rs145126598 SMTNL2 Nonsynonymous SNV F175L 0.014 0.016 0.003 4 17 6 0.01 1 0 0 0 0 Likely benign 1.198 77257 chr9 126770250 126770250 C G rs10818907 LOC100505588 0 0 0.398 0 0 0 0 117 0 0 23 0 11.84 77258 chr16 22159612 22159612 G A rs201947777 VWA3A Nonsynonymous SNV R990Q 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 24.1 77259 chr9 127262527 127262527 C T rs780568525 NR5A1 Nonsynonymous SNV D238N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.95 77260 chr17 56056604 56056604 - TGCTGC VEZF1 Q354_H355insQQ 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 77261 chr16 22337175 22337175 G A rs764672973 POLR3E Nonsynonymous SNV R445Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.93 77262 chr5 139947520 139947520 G A rs140885624 SLC35A4 Nonsynonymous SNV V256M 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 9.544 77263 chr17 56386194 56386194 C T rs142495996 TSPOAP1 Nonsynonymous SNV R1420Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.374 77264 chr16 56508787 56508787 G A rs201192199 OGFOD1 Nonsynonymous SNV G407S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 30 77265 chr16 81348764 81348764 C T rs77470936 GAN Synonymous SNV L16L 0.011 0.013 0.037 10 13 5 0.026 11 0 0 0 0 Benign 14.04 77266 chr6 7246913 7246913 G A rs115475946 RREB1 Synonymous SNV A1355A 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 Benign 9.191 77267 chr9 130493062 130493062 A G rs746389296 TTC16 Nonsynonymous SNV H654R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 77268 chr17 56665282 56665282 G A rs778356707 TEX14 Nonsynonymous SNV P899S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.089 77269 chr6 7580394 7580394 A T rs749820299 DSP Nonsynonymous SNV N1324I 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.9 77270 chr16 23649415 23649415 G A rs761533286 PALB2 Synonymous SNV Y28Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.639 77271 chr17 46265251 46265251 C T SKAP1 Stop gain W132X 0.003 0 0 0 4 0 0 0 0 0 0 0 39 77272 chr17 4634841 4634841 G A rs749100116 MED11 Synonymous SNV R19R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.11 77273 chr17 57350247 57350247 A G rs542196155 GDPD1 Synonymous SNV X291X 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 77274 chr16 24815534 24815534 A G rs146427035 TNRC6A Nonsynonymous SNV H1244R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 77275 chr6 10984101 10984101 C T rs149258164 ELOVL2 Synonymous SNV E268E 0.007 0.005 0.01 4 8 2 0.01 3 1 0 0 0 11.53 77276 chr16 81323953 81323953 G C rs143238312 BCO1 Nonsynonymous SNV G472A 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 25.2 77277 chr16 27539962 27539962 C T rs145882825 GTF3C1 Synonymous SNV L310L 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 13.03 77278 chr16 818452 818452 G A rs150425699 MSLN Nonsynonymous SNV R565H 0.022 0.018 0.02 3 26 7 0.008 6 1 0 0 0 Benign 19.99 77279 chr16 82033626 82033626 T C rs79313103 SDR42E1 Nonsynonymous SNV N91S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.006 77280 chr17 60005281 60005281 A G rs72843761 INTS2 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 20.7 77281 chr16 2849407 2849407 C T rs118024870 PRSS41 Synonymous SNV D139D 0.009 0 0.003 6 10 0 0.015 1 0 0 0 0 7.366 77282 chr16 82673008 82673008 C T rs576859115 CDH13 Nonsynonymous SNV H42Y 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.445 77283 chr16 84256360 84256360 C T rs34559356 KCNG4 Synonymous SNV A341A 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 13.02 77284 chr6 15501390 15501390 G T rs200766229 JARID2 Nonsynonymous SNV R561L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 28.7 77285 chr9 131762021 131762021 G T rs147959429 NUP188 Nonsynonymous SNV E1260D 0.008 0.01 0.017 3 9 4 0.008 5 0 0 0 0 17.54 77286 chr6 16327915 16327915 - TGCTGCTGC ATXN1 Q208_H209insQQQ 0.02 0.005 0.007 5 24 2 0.013 2 0 0 0 0 77287 chr17 61914875 61914875 G A SMARCD2 Synonymous SNV P109P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.43 77288 chr16 30098145 30098145 T C rs61736370 TBX6 Synonymous SNV K289K 0.002 0.005 0.01 5 2 2 0.013 3 0 0 0 0 Benign 5.709 77289 chr9 133768966 133768966 C T rs139997194 QRFP Nonsynonymous SNV R87H 0.002 0.003 0.014 2 2 1 0.005 4 0 0 0 0 Benign 16.68 77290 chr16 85688481 85688481 C T rs147629403 GSE1 Synonymous SNV T123T 0.02 0.026 0.01 8 23 10 0.021 3 0 0 0 1 11.95 77291 chr16 30767822 30767822 C G rs144792786 PHKG2 Nonsynonymous SNV S261C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 77292 chr17 63554006 63554006 G A rs62640028 AXIN2 Nonsynonymous SNV P245S 0.006 0.008 0 2 7 3 0.005 0 0 1 0 0 Conflicting interpretations of pathogenicity 12.41 77293 chr16 613729 613729 T G rs45619831 PRR35 Synonymous SNV A145A 0.016 0.016 0.014 4 19 6 0.01 4 0 0 0 0 0.089 77294 chr16 842518 842518 C T rs35387463 CHTF18 Nonsynonymous SNV S469L 0.022 0.016 0.024 3 26 6 0.008 7 1 0 0 0 6.593 77295 chr16 31129108 31129108 C G rs201871085 KAT8 Nonsynonymous SNV P36A 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 18.98 77296 chr16 67694102 67694102 C T rs149365469 ACD Nonsynonymous SNV V8I 0.003 0 0 5 3 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.74 77297 chr16 87637893 87637893 - CTGCTGCTGCTGCTG JPH3 A157_V158insAAAAA 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 77298 chr16 31143770 31143770 C A rs910471940 PRSS8 Nonsynonymous SNV G229W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 77299 chr16 845278 845278 C T rs61753374 CHTF18 Synonymous SNV P699P 0.023 0.016 0.02 3 27 6 0.008 6 1 0 0 0 Benign 7.436 77300 chr5 145894532 145894532 A G rs760403061 GPR151 Nonsynonymous SNV I382T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.77 77301 chr16 855885 855885 A G rs147922685 PRR25 Nonsynonymous SNV K148R 0.022 0.016 0.027 2 26 6 0.005 8 1 0 1 0 0.001 77302 chr16 3169497 3169497 C T rs112274508 ZNF205 Nonsynonymous SNV P279L 0.008 0.005 0.003 6 9 2 0.015 1 0 0 0 0 7.308 77303 chr16 863398 863398 C T rs13337837 PRR25 Nonsynonymous SNV P249L 0.044 0.042 0.058 10 52 16 0.026 17 1 0 1 0 19.99 77304 chr16 863498 863498 G C rs13333991 PRR25 Nonsynonymous SNV L282F 0.101 0.091 0.088 30 118 35 0.077 26 5 1 2 2 11.7 77305 chr16 321440 321440 G A rs141912967 RGS11 Nonsynonymous SNV A52V 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 26.8 77306 chr16 68381168 68381168 G A rs369694606 PRMT7 Nonsynonymous SNV V366M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.42 77307 chr16 68856088 68856088 C T rs33969373 CDH1 Synonymous SNV H571H 0.024 0.013 0.024 12 28 5 0.031 7 0 0 0 0 Benign 13.68 77308 chr16 68867387 68867387 C T rs2229044 CDH1 Synonymous SNV G817G 0.026 0.01 0.031 12 31 4 0.031 9 0 0 0 0 Benign/Likely benign 19.26 77309 chr6 28120890 28120890 G A rs774367513 ZKSCAN8 Nonsynonymous SNV G91R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.54 77310 chr16 3778769 3778769 G A rs762700575 CREBBP Synonymous SNV N2055N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.503 77311 chr17 54526545 54526545 G A rs7224861 ANKFN1 Nonsynonymous SNV R405Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.3 77312 chr9 137726950 137726950 C T rs2229817 COL5A1 Nonsynonymous SNV T1757M 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign/Likely benign 25.6 77313 chr9 138011424 138011424 G A rs767327456 OLFM1 Synonymous SNV T286T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 77314 chr16 70328779 70328779 C T rs7189290 DDX19B Nonsynonymous SNV R11C 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 7.312 77315 chr5 149389968 149389968 G A rs142114383 HMGXB3 Nonsynonymous SNV E203K 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Benign 29.5 77316 chr5 149433939 149433939 G A rs41287094 CSF1R Synonymous SNV F903F 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 Benign 10.76 77317 chr16 70693580 70693580 A G rs138898622 IL34 Synonymous SNV P153P 0.017 0.013 0.007 0 20 5 0 2 1 0 0 0 Benign 0.303 77318 chr9 139101072 139101072 C T rs775296723 QSOX2 Synonymous SNV P533P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 77319 chr16 4557846 4557846 A T rs150288371 HMOX2 Nonsynonymous SNV M84L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.456 77320 chr9 139272439 139272439 C T rs61731234 SNAPC4 Synonymous SNV A1280A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 77321 chr16 47549473 47549473 G T rs56257827 PHKB Nonsynonymous SNV M185I 0.013 0.008 0.007 2 15 3 0.005 2 0 0 0 0 Benign/Likely benign 28.7 77322 chr9 139286457 139286457 C A rs773218685 SNAPC4 Synonymous SNV R304R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 77323 chr17 7129745 7129745 C G rs371112172 DVL2 Nonsynonymous SNV S586T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 77324 chr16 47549492 47549492 A G rs117218785 PHKB Nonsynonymous SNV I192V 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.1 77325 chr9 139620989 139620990 GT - rs10609067 SNHG7 0 0 0.367 0 0 0 0 108 0 0 54 0 77326 chr9 139620992 139620994 CCT - rs10609068 SNHG7 0 0 0.408 0 0 0 0 120 0 0 60 0 77327 chr16 89289583 89289583 G A rs147281237 ZNF778 Nonsynonymous SNV D46N 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 24 77328 chr9 139620999 139620999 T A rs4880065 SNHG7 0 0 0.483 0 0 0 0 142 0 0 71 0 5.413 77329 chr17 58987928 58987928 G A BCAS3 Synonymous SNV V286V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 77330 chr6 34211294 34211294 T C HMGA1 Nonsynonymous SNV L90P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 77331 chr16 4925291 4925291 T G rs17137364 UBN1 Synonymous SNV V960V 0.055 0.052 0.082 34 65 20 0.087 24 1 0 2 3 4.437 77332 chr16 4933907 4933907 T C rs17137389 PPL Synonymous SNV Q1583Q 0.055 0.052 0.088 34 65 20 0.087 26 1 0 2 3 0.025 77333 chr16 4934777 4934777 C T rs61744951 PPL Synonymous SNV Q1293Q 0.047 0.044 0.085 32 55 17 0.082 25 1 0 2 3 9.064 77334 chr16 4935985 4935985 C G rs35869286 PPL Nonsynonymous SNV E891Q 0.05 0.047 0.078 29 59 18 0.074 23 1 0 2 3 10.81 77335 chr17 71752587 71752587 C T rs75804202 LOC100134391 0 0.003 0 0 0 1 0 0 0 0 0 0 6.375 77336 chr16 89782948 89782948 T C VPS9D1 Nonsynonymous SNV E118G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.8 77337 chr9 139754418 139754418 C A rs374373052 MAMDC4 Nonsynonymous SNV L1092I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 77338 chr6 35108990 35108990 C - rs142993601 TCP11 G6Efs*10 0.025 0.018 0.017 8 29 7 0.021 5 4 0 2 2 77339 chr16 89793731 89793731 C T rs17719249 ZNF276 Nonsynonymous SNV R351W 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 28.7 77340 chr9 139910011 139910011 C T rs35031434 ABCA2 Synonymous SNV E1184E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.07 77341 chr16 50745926 50745926 C T rs2066844 NOD2 Nonsynonymous SNV R675W 0.04 0.026 0.041 18 47 10 0.046 12 2 1 0 0 Conflicting interpretations of pathogenicity, risk factor 24.1 77342 chr6 35478743 35478766 CCTCCTCTTCCTCGTCCTCCTCGT - rs281865169 TULP1 D71_E78del 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 77343 chr16 89986130 89986130 T C rs1110400 MC1R Nonsynonymous SNV I155T 0.01 0.003 0.007 1 12 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 77344 chr17 61559033 61559033 C T rs2229839 ACE Nonsynonymous SNV P351L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 28.2 77345 chr9 139943313 139943313 C T rs200961887 ENTPD2 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 77346 chr16 90086433 90086433 C G rs9888822 DBNDD1 Nonsynonymous SNV G32R 0.011 0.005 0.01 1 13 2 0.003 3 0 0 0 0 0.283 77347 chr16 89180765 89180765 A T rs75591977 ACSF3 Synonymous SNV S67S 0.013 0.016 0.003 1 15 6 0.003 1 0 0 0 0 Benign 0.172 77348 chr9 140057690 140057690 G C rs116354349 GRIN1 Synonymous SNV V747V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 9.67 77349 chr9 140057693 140057693 G C rs79570612 GRIN1 Synonymous SNV T748T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 8.03 77350 chr17 10216549 10216549 G A rs61745306 MYH13 Synonymous SNV N1369N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.01 77351 chr16 75646442 75646442 G A rs149520290 ADAT1 Nonsynonymous SNV P161S 0.012 0.016 0.014 4 14 6 0.01 4 1 0 0 0 0.014 77352 chr5 152870529 152870529 C A rs150205263 GRIA1 Synonymous SNV I27I 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 Benign 22.6 77353 chr16 75654685 75654685 C T rs369100478 ADAT1 Nonsynonymous SNV D5N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 22.7 77354 chr16 75664377 75664377 G A rs376044061 KARS1 Synonymous SNV C456C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 12.5 77355 chr9 140139124 140139124 C T rs115662231 FAM166A Nonsynonymous SNV M239I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.992 77356 chr16 75665690 75665690 T C rs372994342 KARS1 Nonsynonymous SNV I327V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.9 77357 chr17 6350923 6350923 A G rs9913648 PIMREG Synonymous SNV G145G 0.025 0.023 0.024 13 29 9 0.033 7 0 0 0 0 4.883 77358 chr5 154317552 154317552 T A rs147885463 GEMIN5 Nonsynonymous SNV S48C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.1 77359 chr16 89805045 89805045 A C rs149531696 FANCA Synonymous SNV P1444P 0.003 0.016 0.003 0 4 6 0 1 0 0 0 0 Benign/Likely benign 0.004 77360 chr6 38749117 38749117 C T rs753499080 DNAH8 Nonsynonymous SNV R526C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 77361 chr17 10600653 10600653 G A rs1802083 SCO1 Nonsynonymous SNV P58S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign/Likely benign 0.025 77362 chr9 140358581 140358581 C T rs4962237 PNPLA7 Nonsynonymous SNV D1050N 0.074 0.083 0.054 24 87 32 0.062 16 5 0 0 0 25.2 77363 chr6 38835844 38835844 T G DNAH8 Nonsynonymous SNV Y2017D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 77364 chr16 89967044 89967044 C G rs75719943 TCF25 Nonsynonymous SNV A408G 0.006 0.016 0.014 1 7 6 0.003 4 0 1 0 0 12.14 77365 chr16 89986122 89986122 C A rs201326893 MC1R Stop gain Y152X 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 36 77366 chr17 73265544 73265544 G A rs577676764 MIF4GD Nonsynonymous SNV S30F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 77367 chr6 41129207 41129207 C T rs143332484 TREM2 Nonsynonymous SNV R62H 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.11 77368 chr6 41304139 41304139 G A rs147357473 NCR2 Nonsynonymous SNV V123I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 77369 chr17 66928473 66928473 C T rs149486717 ABCA8 Nonsynonymous SNV M251I 0.013 0.005 0.01 6 15 2 0.015 3 0 0 0 0 Benign 6.489 77370 chr17 73832697 73832697 G C UNC13D Synonymous SNV P418P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.629 77371 chr17 74006136 74006136 C T rs1076871 EVPL Synonymous SNV S1072S 0.026 0.029 0.031 7 31 11 0.018 9 0 0 0 0 6.813 77372 chr9 215494 215494 C T rs7869327 DOCK8-AS1 0 0 0.017 0 0 0 0 5 0 0 2 0 9.768 77373 chr16 67197327 67197327 C G rs778268984 FBXL8 Synonymous SNV V243V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.644 77374 chr16 67920035 67920035 G A rs374951501 NRN1L Nonsynonymous SNV R124H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.942 77375 chr16 840636 840636 C G rs17850060 CHTF18 Synonymous SNV P288P 0.014 0.021 0.003 10 16 8 0.026 1 0 0 0 0 12.69 77376 chr9 3257122 3257122 C T rs35483263 RFX3 Synonymous SNV Q561Q 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 12.54 77377 chr17 1548216 1548216 C G rs143143969 SCARF1 Synonymous SNV G59G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.63 77378 chr17 18159891 18159891 G A rs11540888 FLII Synonymous SNV H54H 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 8.171 77379 chr17 18194242 18194242 C T rs61753153 TOP3A Nonsynonymous SNV A366T 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 Benign 29.8 77380 chr9 35044398 35044398 T C rs34368082 C9orf131 Nonsynonymous SNV I556T 0.031 0.026 0.048 7 36 10 0.018 14 1 0 0 0 0.007 77381 chr9 35092480 35092480 T G rs35287398 PIGO Synonymous SNV A468A 0.032 0.026 0.048 13 38 10 0.033 14 1 0 0 1 Benign 5.655 77382 chr17 18243524 18243524 T C rs78909145 SHMT1 Nonsynonymous SNV K78R 0.009 0.005 0.014 0 11 2 0 4 0 0 0 0 Benign 22.5 77383 chr9 35101522 35101522 G A rs35119429 STOML2 Synonymous SNV A114A 0.028 0.018 0.051 6 33 7 0.015 15 1 0 0 0 10.79 77384 chr6 46135795 46135795 T C rs34432940 ENPP5 Nonsynonymous SNV I69V 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 9.619 77385 chr9 35829390 35829390 C T rs2381409 TMEM8B 0 0 0.347 0 0 0 0 102 0 0 44 0 16.2 77386 chr17 76157326 76157326 C G rs78315359 C17orf99 Nonsynonymous SNV L121V 0.011 0.01 0 6 13 4 0.015 0 0 0 0 0 23.2 77387 chr16 84230624 84230624 C A rs11639669 LOC654780 0.025 0.013 0.027 7 29 5 0.018 8 2 1 0 1 7.642 77388 chr17 17050673 17050673 G A rs200990767 MPRIP Nonsynonymous SNV R566K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 77389 chr17 17125868 17125868 T A rs113938514 FLCN Synonymous SNV T242T 0.019 0.008 0.027 7 22 3 0.018 8 1 0 0 0 Benign 8.652 77390 chr17 76451830 76451830 C T rs111563325 DNAH17 Nonsynonymous SNV V3356I 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 23.8 77391 chr16 845248 845248 C T rs17850062 CHTF18 Synonymous SNV S689S 0.014 0.021 0.003 10 16 8 0.026 1 0 0 0 0 13.1 77392 chr16 71955314 71955314 A G rs61733122 IST1 Synonymous SNV A22A 0.011 0.016 0.014 2 13 6 0.005 4 0 0 0 0 Benign 7.889 77393 chr9 4118540 4118540 C G rs35154632 GLIS3 Nonsynonymous SNV G158A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 25.6 77394 chr17 18181546 18181546 G A rs149596894 TOP3A Nonsynonymous SNV P662L 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 4.991 77395 chr9 4826961 4826961 C G rs41314197 RCL1 Nonsynonymous SNV C104W 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 27.8 77396 chr16 72827874 72827874 T C rs142939235 ZFHX3 Nonsynonymous SNV S1989G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.63 77397 chr17 76825073 76825073 G A rs147635914 USP36 Synonymous SNV F164F 0.014 0.029 0.01 5 16 11 0.013 3 0 1 0 0 Benign 13.5 77398 chr16 72992986 72992986 G A rs769331895 ZFHX3 Synonymous SNV S353S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.314 77399 chr6 51892977 51892977 A G rs141574387 PKHD1 Synonymous SNV N1179N 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.283 77400 chr17 1989084 1989084 C T rs778534887 SMG6 Nonsynonymous SNV A68T 0.002 0 0 0 2 0 0 0 0 0 0 0 31 77401 chr9 71628286 71628286 G A rs41288749 PRKACG Synonymous SNV A241A 0.013 0 0.014 3 15 0 0.008 4 0 0 0 0 Benign 8.435 77402 chr16 75146266 75146266 G T rs147638927 LDHD Synonymous SNV G504G 0.002 0.008 0.01 2 2 3 0.005 3 0 0 0 0 8.406 77403 chr17 77984175 77984175 G A rs147221289 TBC1D16 Nonsynonymous SNV S188L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.858 77404 chr17 78063998 78063998 G A rs567724903 CCDC40 Nonsynonymous SNV A965T 0.003 0.005 0.007 0 3 2 0 2 1 0 0 0 6.014 77405 chr17 7807240 7807240 C T rs61744840 CHD3 Synonymous SNV D1334D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 14.38 77406 chr6 54079944 54079944 C T rs770689411 MLIP Nonsynonymous SNV H898Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.456 77407 chr17 2270590 2270590 G A rs775677403 SGSM2 Synonymous SNV A438A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.19 77408 chr16 88600515 88600541 CCGGCCGCGCCCCCGGGACCCCCTGGG - rs557721678 ZFPM1 G722_P730del 0.009 0.008 0 7 11 3 0.018 0 0 0 0 0 77409 chr16 78143686 78143686 G A rs775696083 WWOX Nonsynonymous SNV G62R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 77410 chr6 56437021 56437021 A G rs9464393 DST Nonsynonymous SNV V1910A 0.008 0.018 0 1 9 7 0.003 0 0 0 0 0 1.232 77411 chr17 78320245 78320245 C T rs144074554 RNF213 Nonsynonymous SNV R2704W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.56 77412 chr6 56505081 56505081 G C rs151271595 DST Nonsynonymous SNV P247A 0.008 0.018 0 1 9 7 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.015 77413 chr17 73839137 73839137 G A rs3744007 UNC13D Synonymous SNV P93P 0.05 0.023 0.061 6 59 9 0.015 18 0 0 0 0 Benign 5.909 77414 chr17 73839326 73839326 C T rs9904366 UNC13D Nonsynonymous SNV A59T 0.043 0.018 0.065 6 50 7 0.015 19 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 77415 chr17 73888534 73888534 G A rs148442922 TRIM65 Synonymous SNV S186S 0.025 0.018 0.031 6 29 7 0.015 9 0 0 0 0 10.24 77416 chr9 79326149 79326149 G A rs202242623 PRUNE2 Synonymous SNV L347L 0 0 0.007 0 0 0 0 2 0 0 0 0 7.787 77417 chr17 26874803 26874803 G A rs146916036 UNC119 Nonsynonymous SNV R168C 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 77418 chr17 73910027 73910027 C T rs61736662 FBF1 Synonymous SNV E1032E 0.048 0.029 0.048 8 56 11 0.021 14 1 0 0 0 9.662 77419 chr17 79077413 79077413 G A rs141395686 BAIAP2 Nonsynonymous SNV A252T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.855 77420 chr9 80881589 80881589 A C rs61730339 CEP78 Synonymous SNV R677R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.324 77421 chr9 84249076 84249076 C A rs373647454 TLE1 Synonymous SNV L181L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 77422 chr9 88248239 88248239 T C rs144890878 AGTPBP1 Synonymous SNV K503K 0.009 0.003 0.017 1 10 1 0.003 5 0 0 0 0 1.712 77423 chr16 81295780 81295780 C A rs35683292 BCO1 Synonymous SNV T121T 0.019 0.005 0.014 9 22 2 0.023 4 0 0 0 0 15.66 77424 chr9 90388501 90388501 A G rs11141967 CTSL3P 0 0 0.048 0 0 0 0 14 0 0 0 0 4.514 77425 chr9 90396135 90396135 G A rs9410963 CTSL3P 0 0 0.228 0 0 0 0 67 0 0 6 0 3.331 77426 chr17 79502080 79502080 G A rs181420326 FSCN2 Nonsynonymous SNV V277I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.01 77427 chr9 90498028 90498028 T C rs148283896 SPATA31E1 Synonymous SNV C74C 0.032 0.023 0.041 8 38 9 0.021 12 0 0 0 0 0.007 77428 chr16 89017420 89017620 CCTGGACCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCCCCTGGATCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCC - LOC100129697 P323_G389del 0.016 0.013 0 4 19 5 0.01 0 8 2 0 1 77429 chr17 74712783 74712783 G A rs200708863 JMJD6 Synonymous SNV G410G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.42 77430 chr17 62291558 62291558 C T rs142562722 TEX2 Nonsynonymous SNV R7H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.8 77431 chr9 94830356 94830356 C A rs45461899 SPTLC1 Nonsynonymous SNV R151L 0.018 0.042 0.017 12 21 16 0.031 5 0 0 0 0 Benign/Likely benign 33 77432 chr17 6350945 6350945 G A rs374776299 PIMREG Nonsynonymous SNV A153T 0.001 0.01 0 0 1 4 0 0 0 0 0 0 0.016 77433 chr17 63532517 63532517 G A rs35415678 AXIN2 Synonymous SNV L623L 0.043 0.034 0.041 12 51 13 0.031 12 1 0 0 0 Benign 9.278 77434 chr6 10702849 10702849 G A rs114979482 PAK1IP1 Synonymous SNV S140S 0.011 0.018 0.01 1 13 7 0.003 3 0 0 0 0 12.88 77435 chr9 95599584 95599584 G A rs10821026 ANKRD19P 0 0 0.088 0 0 0 0 26 0 0 0 0 8.896 77436 chr9 95599825 95599825 G A rs7045305 ANKRD19P 0 0 0.173 0 0 0 0 51 0 0 8 0 6.389 77437 chr9 95599848 95599848 C T rs3824428 ANKRD19P 0 0 0.16 0 0 0 0 47 0 0 8 0 10.38 77438 chr17 75398384 75398384 G A rs779842220 SEPTIN9 Nonsynonymous SNV R100H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 77439 chr17 79767715 79767715 G A rs1801483 GCGR Nonsynonymous SNV G40S 0.02 0.023 0.017 2 23 9 0.005 5 0 0 0 0 Benign 10.82 77440 chr9 96031223 96031223 C A rs116057316 WNK2 Nonsynonymous SNV Q1379K 0.037 0.029 0.044 15 44 11 0.038 13 0 0 1 0 1.538 77441 chr16 89783205 89783205 G A rs118114589 VPS9D1 Synonymous SNV D67D 0.02 0.013 0.017 6 24 5 0.015 5 0 0 0 0 8.405 77442 chr6 83763929 83763929 C G rs151204171 UBE3D Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.215 77443 chr16 89927151 89927151 C T rs141817469 SPIRE2 Nonsynonymous SNV S508L 0.026 0.021 0.044 12 30 8 0.031 13 1 0 1 0 0.096 77444 chr9 99012352 99012352 C T rs441402 HSD17B3-AS1 0 0 0.262 0 0 0 0 77 0 0 13 0 2.972 77445 chrM 1813 1813 A G RNR2 0 0 0.109 0 0 0 0 32 0 0 16 0 77446 chr16 90038205 90038208 CTGA - CENPBD1 S41Rfs*6 0.003 0 0 2 3 0 0.005 0 0 0 0 0 77447 chrUn_gl000220 122125 122125 A C LOC100507412 0 0 0.221 0 0 0 0 65 0 0 0 0 77448 chrUn_gl000220 122126 122126 - A LOC100507412 0 0 0.014 0 0 0 0 4 0 0 0 0 77449 chr6 84644445 84644445 C T rs10080628 CYB5R4 Nonsynonymous SNV P316S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.023 77450 chrUn_gl000220 122142 122156 TCCTCCTCCTCCTCC - LOC100507412 0 0 0.143 0 0 0 0 42 0 0 0 0 77451 chr17 80398154 80398177 AGACGCGCGGAGAGCGGGACCCGC - HEXD T242_Q249del 0 0.003 0 0 0 1 0 0 0 0 0 0 77452 chrX 10437801 10437801 A G MID1 Synonymous SNV D407D 0 0 0.007 0 0 0 0 2 0 0 1 0 5.894 77453 chr17 80407066 80407066 C T rs755945461 CYBC1 Nonsynonymous SNV R22Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 77454 chr17 3020652 3020652 T C rs2001009 OR1E3 Synonymous SNV F253F 0.043 0.036 0 20 50 14 0.051 0 0 0 0 0 0.322 77455 chr6 20402736 20402736 G T rs199515614 E2F3 Synonymous SNV A91A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.84 77456 chr16 86565986 86565986 G A rs1031827915 MTHFSD Synonymous SNV H261H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.534 77457 chrX 107310312 107310312 C G VSIG1 Nonsynonymous SNV N120K 0 0 0.007 0 0 0 0 2 0 0 1 0 27.2 77458 chr17 67293477 67293477 A T rs764428679 ABCA5 Nonsynonymous SNV S431T 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 15.74 77459 chr17 80676855 80676855 A T rs61743692 FN3KRP Nonsynonymous SNV K72M 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 25 77460 chr17 31322691 31322691 A G rs28963 SPACA3 Star tloss M1? 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.087 77461 chr16 88037947 88037947 G A rs768571427 BANP Nonsynonymous SNV A137T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 77462 chr6 24505196 24505196 G T rs62621664 ALDH5A1 Nonsynonymous SNV A237S 0.009 0.021 0.007 2 11 8 0.005 2 0 0 0 0 Benign/Likely benign 32 77463 chr6 24843183 24843183 A G rs145837095 RIPOR2 Synonymous SNV N588N 0.022 0.021 0.031 5 26 8 0.013 9 1 0 0 0 Benign/Likely benign 7.531 77464 chrX 128624079 128624079 C T rs757468537 SMARCA1 Nonsynonymous SNV A624T 0 0 0.007 0 0 0 0 2 0 0 1 0 33 77465 chr17 71282556 71282556 G A rs141752695 CDC42EP4 Synonymous SNV S28S 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 11.92 77466 chrX 145076302 145076302 T G rs5965660 MIR888 0 0 0.187 0 0 0 0 55 0 0 23 0 0.631 77467 chr17 72368711 72368711 C T rs140397567 GPR142 Nonsynonymous SNV P366L 0.005 0.005 0.01 6 6 2 0.015 3 0 0 0 0 6.463 77468 chr6 26392934 26392934 C T rs2072802 BTN2A2 Synonymous SNV L227L 0.021 0.021 0.034 6 25 8 0.015 10 1 1 0 0 12.09 77469 chr16 88952507 88952507 C T CBFA2T3 Nonsynonymous SNV R166H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 77470 chr17 79094148 79094148 C T AATK Synonymous SNV V1093V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.52 77471 chr17 3660396 3660396 C T rs150176235 ITGAE Synonymous SNV A351A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.58 77472 chr16 89258147 89258147 C G CDH15 Nonsynonymous SNV P487R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 77473 chr17 37070727 37070727 G A rs766077238 LASP1 Synonymous SNV P113P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 77474 chr17 79503995 79503995 C G FSCN2 Synonymous SNV R480R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.95 77475 chr6 33694630 33694630 G A rs138867043 IP6K3 Nonsynonymous SNV S156L 0.003 0.013 0.007 1 3 5 0.003 2 0 0 0 0 0.371 77476 chr6 108224081 108224081 C T rs61754483 SEC63 Synonymous SNV E392E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.75 77477 chrX 153418524 153418524 C T rs149897670 OPN1LW Nonsynonymous SNV A174V 0.039 0.034 0.037 15 46 13 0.038 11 16 5 4 6 0.029 77478 chrX 153418535 153418535 A G rs145009674 OPN1LW Nonsynonymous SNV I178V 0.013 0.013 0.017 2 15 5 0.005 5 4 2 1 0 Benign 0.001 77479 chr6 35259447 35259447 G A rs377634955 ZNF76 Synonymous SNV P288P 0 0.005 0 0 0 2 0 0 0 0 0 0 13.91 77480 chr16 89971469 89971469 C T rs144937287 TCF25 Synonymous SNV D531D 0.019 0.031 0.034 13 22 12 0.033 10 0 0 0 0 10.88 77481 chr16 9858596 9858596 A C rs762984731 GRIN2A Synonymous SNV V935V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 0.003 77482 chrX 31496398 31496398 T C rs1800279 DMD Nonsynonymous SNV H192R 0.049 0.052 0.034 23 57 20 0.059 10 14 6 3 5 Benign/Likely benign 1.633 77483 chr17 21203961 21203961 G A rs36076766 MAP2K3 Nonsynonymous SNV M61I 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 23.5 77484 chr17 10416219 10416219 - A rs545765873 MYH1 Frameshift insertion Y290Lfs*6 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 77485 chr6 116559406 116559406 T G rs137934092 NT5DC1 Nonsynonymous SNV S326R 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 12.06 77486 chr17 38251348 38251348 T A NR1D1 Nonsynonymous SNV H425L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.93 77487 chr17 73838536 73838536 C T rs141692294 UNC13D Nonsynonymous SNV V183I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.9 77488 chr17 38600022 38600022 T C IGFBP4 Nonsynonymous SNV L12P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.19 77489 chr17 38636069 38636069 T C rs141882804 TNS4 Synonymous SNV S589S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.355 77490 chr6 37418113 37418113 G A rs144830363 CMTR1 Synonymous SNV V177V 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 12.08 77491 chrX 55033349 55033349 C A rs28382694 APEX2 Synonymous SNV L175L 0.016 0.005 0.017 5 19 2 0.013 5 4 1 1 2 11.09 77492 chr17 39183254 39183254 T C rs138758776 KRTAP1-5 Nonsynonymous SNV T52A 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 0.017 77493 chr17 39183304 39183304 C T rs62623375 KRTAP1-5 Nonsynonymous SNV C35Y 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 23.1 77494 chr18 2925359 2925359 C T rs61735393 LPIN2 Nonsynonymous SNV E601K 0.021 0.016 0.017 5 25 6 0.013 5 0 0 0 0 Benign/Likely benign 22 77495 chr17 39186052 39186052 G A rs150955506 KRTAP1-4 Synonymous SNV A93A 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 9.65 77496 chr17 39186195 39186195 C T rs141392271 KRTAP1-4 Nonsynonymous SNV G46S 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 0.003 77497 chr17 39186196 39186196 A G rs150267202 KRTAP1-4 Synonymous SNV I45I 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 0.1 77498 chr17 74011011 74011011 G C rs77540232 EVPL Nonsynonymous SNV D758E 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.5 77499 chr17 39190830 39190830 C T rs62622849 KRTAP1-3 Nonsynonymous SNV G82R 0.018 0.016 0.02 4 21 6 0.01 6 0 0 0 0 7.347 77500 chrX 66765158 66765158 - GCAGCAGCA rs4045402 AR Q80_E81insQQQ 0.01 0.008 0.02 2 12 3 0.005 6 6 1 3 1 77501 chrX 67938293 67938293 C T rs148535305 STARD8 Synonymous SNV L433L 0.004 0 0.014 0 5 0 0 4 0 0 2 0 11.78 77502 chr17 39197501 39197638 CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCGTGGCTGGCAGGAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGAGCCGCAGGTCCCACTGGTGGAGCAGCTGGGAAATCCACAGAAGCTGGTCTGA - KRTAP1-1 C14_S59del 0.018 0.016 0.017 7 21 6 0.018 5 0 0 0 0 77503 chrX 69498482 69498482 C G rs12857550 ARR3 Nonsynonymous SNV S299C 0.006 0 0.007 2 7 0 0.005 2 2 0 1 1 Benign 27.1 77504 chr17 39296125 39296125 G A rs114671607 KRTAP4-6 Synonymous SNV C205C 0.025 0.018 0.024 10 29 7 0.026 7 0 0 0 0 3.27 77505 chr6 118887215 118887215 T A rs9489444 CEP85L Nonsynonymous SNV D166V 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 0.228 77506 chrX 70886550 70886550 C T rs113844353 LOC100129291 0 0 0.065 0 0 0 0 19 0 0 5 0 4.495 77507 chr17 15341459 15341459 C T rs138131703 CDRT4 Synonymous SNV P30P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.78 77508 chr18 33077807 33077807 G C rs142615973 INO80C Nonsynonymous SNV T11S 0.01 0.013 0.017 4 12 5 0.01 5 0 0 0 0 12.02 77509 chr17 21319411 21319411 - T rs561450849 KCNJ12, KCNJ18 Frameshift insertion F255Lfs*19 0.003 0 0 2 4 0 0.005 0 0 0 0 0 77510 chr17 1538714 1538714 T G rs61738531 SCARF1 Nonsynonymous SNV S611R 0.029 0.044 0.037 10 34 17 0.026 11 0 0 0 0 27.5 77511 chrX 78010499 78010499 G A rs148919808 LPAR4 Nonsynonymous SNV V45I 0.003 0 0.007 1 3 0 0.003 2 1 0 1 0 Likely benign 14.32 77512 chr17 39324333 39324333 T A rs12953139 KRTAP4-3 Nonsynonymous SNV Q31L 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 8.408 77513 chr17 39324346 39324346 - TTT rs770530211 KRTAP4-3 R26_P27insK 0.001 0 0 1 1 0 0.003 0 0 0 0 0 77514 chrX 91518138 91518138 G A rs147493192 PCDH11X Nonsynonymous SNV G1047E 0.013 0 0.014 6 15 0 0.015 4 3 0 2 2 9.698 77515 chr6 131520691 131520691 A G rs34324046 AKAP7 Nonsynonymous SNV K227R 0.014 0.016 0.003 4 16 6 0.01 1 0 0 0 0 1.307 77516 chrX 9912792 9912792 A G rs12012202 SHROOM2 Nonsynonymous SNV I310V 0.007 0.003 0.014 2 8 1 0.005 4 2 0 2 0 0.71 77517 chr18 42533139 42533139 G C rs560028623 SETBP1 Synonymous SNV L1278L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.189 77518 chr17 27420366 27420366 C T rs752544509 MYO18A Nonsynonymous SNV G1597D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 77519 chr6 135754208 135754208 A G rs2273761 AHI1 Synonymous SNV D741D 0.02 0.018 0.017 9 24 7 0.023 5 3 0 0 1 Benign 0.034 77520 chr17 27613559 27613559 T C rs930051360 NUFIP2 Nonsynonymous SNV T485A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.21 77521 chr18 21395170 21395170 C T rs377154634 LAMA3 Nonsynonymous SNV A636V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 77522 chr17 27910045 27910045 G A rs146774510 GIT1 Nonsynonymous SNV T66M 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 32 77523 chr17 19188962 19188962 C T rs199661847 EPN2 Nonsynonymous SNV R209C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.5 77524 chr17 27940515 27940515 A G rs371389990 ANKRD13B Nonsynonymous SNV Q599R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.58 77525 chr18 47109955 47109955 A G rs77960347 LIPG Nonsynonymous SNV N322S 0.009 0.013 0.014 5 10 5 0.013 4 0 0 0 0 23.8 77526 chr6 43604268 43604268 A G rs149723586 MAD2L1BP Nonsynonymous SNV Q66R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.92 77527 chr6 43970827 43970827 G A rs2295334 C6orf223 0.02 0.016 0.014 3 24 6 0.008 4 0 0 0 0 18.69 77528 chr17 19861704 19861704 G A rs143828429 AKAP10 Nonsynonymous SNV S167L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 77529 chr18 2554915 2554915 G A rs61749937 METTL4 Synonymous SNV D194D 0.02 0.01 0.02 0 24 4 0 6 0 0 0 0 1.113 77530 chr6 144747530 144747530 C T rs36000065 UTRN Synonymous SNV N171N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.24 77531 chr10 102777309 102777309 C T rs111916601 PDZD7 Synonymous SNV P538P 0.024 0.031 0.031 5 28 12 0.013 9 0 0 0 0 0.867 77532 chr10 102778892 102778892 G A rs34705415 PDZD7 Synonymous SNV Y337Y 0.024 0.031 0.031 5 28 12 0.013 9 0 0 0 0 Benign 1.106 77533 chr18 50589751 50589751 C T rs141716650 DCC Synonymous SNV V354V 0.01 0.008 0.017 2 12 3 0.005 5 0 0 0 0 Benign 12.36 77534 chr17 3030747 3030747 G T rs149048749 OR1G1 Nonsynonymous SNV F33L 0.007 0.016 0.003 3 8 6 0.008 1 0 0 0 0 2.358 77535 chr10 102849455 102849455 A G rs12356580 TLX1NB 0 0 0.105 0 0 0 0 31 0 0 1 0 8.301 77536 chr17 76567760 76567760 G A rs377492773 DNAH17 Nonsynonymous SNV A215V 0.004 0.008 0 6 5 3 0.015 0 0 0 0 0 21.1 77537 chr18 51888784 51888784 C T rs578150130 C18orf54 Nonsynonymous SNV S352F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.993 77538 chr17 31322631 31322631 G A rs16967845 SPACA3 Nonsynonymous SNV C80Y 0.013 0.01 0.003 7 15 4 0.018 1 0 0 0 0 23.6 77539 chr6 46659189 46659189 A T rs376581936 TDRD6 Synonymous SNV P1108P 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.036 77540 chr10 104359297 104359297 G T rs34135067 SUFU Nonsynonymous SNV A340S 0.009 0 0.017 1 11 0 0.003 5 0 0 0 0 Benign/Likely benign 10.66 77541 chr17 76823362 76823362 G A rs147989943 USP36 Synonymous SNV D218D 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 11.69 77542 chr18 2906765 2906792 CCCCGACGCCCGGCAGAGGCGCCCTCGC - rs574405126 EMILIN2 K787_P791delinsT 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 77543 chr17 39967770 39967770 C T rs200433757 P3H4 Nonsynonymous SNV R133Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 77544 chr17 40125733 40125733 C T rs376643712 CNP Nonsynonymous SNV R333W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 33 77545 chr6 149068778 149068778 C T rs45490997 UST Nonsynonymous SNV P71L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 25.1 77546 chr10 105209357 105209358 AG - rs200457105 CALHM2 P114Rfs*12 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 77547 chr17 3336251 3336251 G A rs143255376 OR1E2 Synonymous SNV T295T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 9.009 77548 chr6 47763260 47763260 G T rs138699473 OPN5 Synonymous SNV R239R 0.014 0.023 0.003 1 16 9 0.003 1 0 1 0 0 Benign 3.35 77549 chr17 78064145 78064145 - CAC rs10693712 CCDC40 T1013_R1014insT 0.028 0.021 0.027 13 33 8 0.033 8 0 1 1 0 77550 chr17 40914810 40914810 C T rs745468412 RAMP2 Synonymous SNV L156L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.19 77551 chr17 41002243 41002243 G T AOC2 Nonsynonymous SNV G690C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 77552 chr10 105794080 105794080 C T rs759888854 COL17A1 Nonsynonymous SNV R1260H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 77553 chr6 51524067 51524067 C T PKHD1 Synonymous SNV K3619K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 14 77554 chr17 78201686 78201686 C T rs61011315 SLC26A11 Synonymous SNV H221H 0.009 0.013 0.014 7 10 5 0.018 4 0 0 0 0 11.84 77555 chr17 78268596 78268596 G A rs763617593 RNF213 Nonsynonymous SNV G517R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.005 77556 chr18 57000468 57000468 A G rs752864067 LMAN1 Nonsynonymous SNV M410T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.12 77557 chr17 41570090 41570090 G A rs758320592 DHX8 Nonsynonymous SNV R91Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.1 77558 chr18 40853889 40853889 C T rs200418581 SYT4 Nonsynonymous SNV A169T 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Benign 23.1 77559 chr18 59713173 59713173 A C rs34231046 PIGN Nonsynonymous SNV F904L 0.012 0.013 0.007 2 14 5 0.005 2 0 0 0 0 Benign 13.96 77560 chr17 78328458 78328458 C T rs920246363 RNF213-AS1 0 0.005 0 0 0 2 0 0 0 0 0 0 5.239 77561 chr17 42254970 42254970 C - rs147448281 ASB16-AS1 0.01 0.026 0.027 4 12 10 0.01 8 0 0 0 0 77562 chr18 44584658 44584658 C T rs148791504 KATNAL2 Nonsynonymous SNV R18W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Uncertain significance 26.4 77563 chr10 115609761 115609761 C T rs34407062 DCLRE1A Nonsynonymous SNV R368Q 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 1.83 77564 chr18 48190817 48190817 G A rs45471400 MAPK4 Synonymous SNV V163V 0.037 0.01 0.034 9 44 4 0.023 10 0 1 0 0 9.633 77565 chr17 79226005 79226005 G A rs117437659 SLC38A10 Synonymous SNV D645D 0.009 0.01 0 5 11 4 0.013 0 0 0 0 0 1.134 77566 chr17 4337384 4337384 C T rs149528100 SPNS3 Nonsynonymous SNV P41L 0.008 0.003 0 0 9 1 0 0 0 0 0 0 19.27 77567 chr17 3655126 3655126 C T rs149540181 ITGAE Nonsynonymous SNV G571R 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 10.86 77568 chr17 27999103 27999103 G A rs759004141 SSH2 Nonsynonymous SNV A193V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.65 77569 chr17 4458515 4458515 G T rs117128211 MYBBP1A Nonsynonymous SNV F35L 0.026 0.018 0.014 3 31 7 0.008 4 1 0 0 0 25.3 77570 chr17 36925983 36925983 G C rs115542782 PIP4K2B Synonymous SNV S404S 0.006 0.003 0.007 7 7 1 0.018 2 0 0 0 1 10.82 77571 chr18 66721342 66721342 G A rs140831183 CCDC102B Nonsynonymous SNV E504K 0 0.005 0 0 0 2 0 0 0 0 0 0 17.74 77572 chr17 46136201 46136212 CTTCTTCCTCTG - rs764960523 NFE2L1 A484_S487del 0.002 0 0 0 2 0 0 0 0 0 0 0 77573 chr6 158923120 158923120 C A rs138229082 TULP4 Nonsynonymous SNV P809T 0.007 0.013 0.007 3 8 5 0.008 2 0 0 0 0 19.1 77574 chr6 159185613 159185613 G C rs375003181 SYTL3 Nonsynonymous SNV D398H 0.006 0.008 0 0 7 3 0 0 0 0 0 0 26.3 77575 chr17 3789008 3789008 G A rs188101980 CAMKK1 Nonsynonymous SNV R19C 0.009 0.01 0.007 5 10 4 0.013 2 0 0 0 0 7.89 77576 chr17 32647891 32647891 C A rs117180331 CCL8 Nonsynonymous SNV H89N 0.008 0.01 0.003 7 9 4 0.018 1 0 0 0 0 13.35 77577 chr18 74091718 74091718 G A rs17059302 ZNF516 Synonymous SNV R784R 0.064 0.078 0.082 24 75 30 0.062 24 1 0 1 1 9.866 77578 chr17 33310495 33310495 C A rs61749869 LIG3 Synonymous SNV I157I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 19.93 77579 chr18 74640031 74640031 G T rs111932063 ZNF236 Synonymous SNV G1521G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.32 77580 chr18 74667970 74667970 G A rs113817245 ZNF236 Synonymous SNV P1648P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 13.53 77581 chr18 60382931 60382931 C T rs745311627 PHLPP1 Synonymous SNV A5A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.76 77582 chr6 83667166 83667166 A G rs3734455 UBE3D Synonymous SNV L151L 0.014 0.018 0.003 7 17 7 0.018 1 0 0 0 0 0.047 77583 chr6 84108200 84108200 T A rs151111787 ME1 Nonsynonymous SNV E83V 0.014 0.018 0.007 7 16 7 0.018 2 0 0 0 0 31 77584 chr6 160543080 160543080 G A rs35888596 SLC22A1 Nonsynonymous SNV G38D 0.023 0.008 0.014 5 27 3 0.013 4 0 0 0 0 26.4 77585 chr6 160663420 160663420 T G rs8177517 SLC22A2 Nonsynonymous SNV K432Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 13.28 77586 chr17 3431387 3431387 T A rs114131791 TRPV3 Nonsynonymous SNV M479L 0.018 0.005 0.017 5 21 2 0.013 5 0 0 0 0 Benign 12.97 77587 chr17 48543170 48543170 C T rs142146358 CHAD Nonsynonymous SNV R279H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 31 77588 chr18 65179657 65179657 T C rs12953840 DSEL Nonsynonymous SNV Y730C 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Likely benign 24.4 77589 chr18 657785 657785 C T rs188268314 TYMS Nonsynonymous SNV P15S 0.011 0.003 0 1 13 1 0.003 0 0 0 0 0 6.453 77590 chr17 35300369 35300369 G T rs145694637 LHX1 Nonsynonymous SNV A388S 0.013 0.008 0.01 9 15 3 0.023 3 1 0 0 0 2.886 77591 chr6 153323806 153323806 A G rs3818126 MTRF1L Synonymous SNV V5V 0.068 0.055 0.082 35 80 21 0.09 24 6 2 2 4 0.063 77592 chr10 129903094 129903094 G T rs7083622 MKI67 Nonsynonymous SNV T1977N 0.015 0.013 0.014 7 18 5 0.018 4 0 0 0 0 12.25 77593 chr6 96053663 96053663 G C rs140663602 MANEA Nonsynonymous SNV K257N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.196 77594 chr18 67864918 67864918 T G rs12956068 RTTN Nonsynonymous SNV D212A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.3 77595 chr6 97414949 97414949 C T rs35143662 KLHL32 Nonsynonymous SNV R5C 0.012 0.013 0.01 4 14 5 0.01 3 1 1 0 0 25.7 77596 chr19 1010396 1010396 G C rs77868901 TMEM259 Nonsynonymous SNV P606A 0.02 0.023 0.017 11 24 9 0.028 5 0 0 0 0 6.564 77597 chr17 54534268 54534268 A G rs113055860 ANKFN1 Synonymous SNV R421R 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 0.111 77598 chr17 54534747 54534747 G A rs34520699 ANKFN1 Synonymous SNV T482T 0.014 0.01 0.003 3 16 4 0.008 1 0 0 0 0 8.98 77599 chr17 54535266 54535266 A G rs112824543 ANKFN1 Nonsynonymous SNV I498V 0.014 0.01 0 3 16 4 0.008 0 0 0 0 0 0.002 77600 chr18 18963597 18963597 C G GREB1L Nonsynonymous SNV L40V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.9 77601 chr17 37564940 37564940 T C rs761564194 MED1 Synonymous SNV P1178P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.338 77602 chr18 72228225 72228225 G T rs371313911 CNDP1 Synonymous SNV T146T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.658 77603 chr10 134179037 134179037 G A LRRC27 Nonsynonymous SNV A340T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 77604 chr17 37871547 37871547 C A rs141116145 ERBB2 Nonsynonymous SNV A386D 0.008 0.01 0.031 1 9 4 0.003 9 0 0 0 0 Likely benign 15.41 77605 chr18 21402298 21402298 C A rs17187262 LAMA3 Nonsynonymous SNV T796N 0.017 0.013 0 4 20 5 0.01 0 1 0 0 0 11.44 77606 chr18 21424986 21424986 T C rs12457323 LAMA3 Nonsynonymous SNV V1206A 0.014 0.013 0 5 17 5 0.013 0 1 0 0 0 7.941 77607 chr18 21469993 21469993 C T rs958631 LAMA3 Synonymous SNV F165F 0.014 0.013 0.007 5 17 5 0.013 2 1 0 0 0 Benign 18.7 77608 chr18 72998213 72998213 A G rs372615647 TSHZ1 Nonsynonymous SNV K284R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.43 77609 chr18 21496520 21496520 A G rs756501382 LAMA3 Nonsynonymous SNV K930R 0.004 0.005 0 2 5 2 0.005 0 1 0 0 0 21.2 77610 chr10 134748346 134748346 A G rs376240960 CFAP46 Nonsynonymous SNV L259S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 77611 chr6 110763935 110763935 T C rs41288594 SLC22A16 Nonsynonymous SNV E232G 0.022 0.023 0.051 8 26 9 0.021 15 0 0 0 0 24.7 77612 chr6 111695554 111695554 T C rs141825447 REV3L Nonsynonymous SNV N1335S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Likely benign 0.214 77613 chr17 38323816 38323816 C T rs138685431 CASC3 Synonymous SNV P534P 0 0 0 1 0 0 0.003 0 0 0 0 0 19.37 77614 chr18 76755275 76755275 G T rs766729716 SALL3 Nonsynonymous SNV G1095V 0.003 0 0 0 4 0 0 0 0 0 0 0 18.8 77615 chr18 2601401 2601401 C T rs200355974 NDC80 Nonsynonymous SNV L461F 0 0.008 0.003 0 0 3 0 1 0 0 0 0 24.4 77616 chr10 135025208 135025208 A G rs41283313 KNDC1 Nonsynonymous SNV K1361R 0.022 0.021 0.027 8 26 8 0.021 8 0 0 0 0 19.29 77617 chr17 38508756 38508756 C T rs41283421 RARA Synonymous SNV I171I 0.03 0.047 0.014 7 35 18 0.018 4 0 0 0 0 16.85 77618 chr7 2752330 2752330 C T rs111981479 AMZ1 Nonsynonymous SNV R439C 0.015 0.008 0.01 1 18 3 0.003 3 0 0 0 0 Benign 23.1 77619 chr6 116573958 116573958 C T rs183681428 TSPYL4 Nonsynonymous SNV S405N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 15.58 77620 chr17 38975292 38975292 A G rs571434577 KRT10 Nonsynonymous SNV Y499H 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 13.1 77621 chr10 135369153 135369153 G A rs143005509 SYCE1 Nonsynonymous SNV R260C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 77622 chr18 28993451 28993451 A G rs556651523 DSG4 Nonsynonymous SNV M1025V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.002 77623 chr10 14478618 14478618 T C rs11259096 MIR1265 0 0 0.102 0 0 0 0 30 0 0 3 0 0.531 77624 chr18 9256917 9256917 A G ANKRD12 Nonsynonymous SNV T1195A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.93 77625 chr18 31187584 31187584 A C ASXL3 Synonymous SNV P27P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 1.19 77626 chr19 11347493 11347493 T C rs737337 DOCK6 Synonymous SNV T712T 0.07 0.073 0.075 35 82 28 0.09 22 3 0 1 2 0.035 77627 chr18 31463335 31463335 A T rs768592487 NOL4 Synonymous SNV T183T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.021 77628 chr7 6194266 6194266 G C rs7784072 USP42 Synonymous SNV G1027G 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 0.556 77629 chr19 11618630 11618630 G A rs34803265 ECSIT Nonsynonymous SNV R64C 0.039 0.049 0.014 10 46 19 0.026 4 1 0 0 0 23.8 77630 chr17 62517603 62517603 C T rs200923114 CEP95 Nonsynonymous SNV P61S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.006 77631 chr19 11917958 11917958 A G rs145133965 ZNF491 Nonsynonymous SNV Y397C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.03 77632 chr10 21178852 21178852 C G rs41277374 NEBL Nonsynonymous SNV K60N 0.004 0.005 0.007 9 5 2 0.023 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 77633 chr10 21463833 21463833 T C rs2279311 NEBL-AS1 0 0 0.238 0 0 0 0 70 0 0 6 0 7.95 77634 chr7 7841351 7841351 A G rs537202301 UMAD1 Nonsynonymous SNV I45V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 77635 chr17 39506906 39506906 G A rs111487509 KRT33A Synonymous SNV P38P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.526 77636 chr17 39551532 39551532 C A rs151023228 KRT31 Nonsynonymous SNV A281S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 25 77637 chr19 1360156 1360156 C T rs375763919 PWWP3A Nonsynonymous SNV A11V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 16.75 77638 chr19 1371117 1371117 - CTGCGCTGGGATTTTGCAA rs542054915 PWWP3A Frameshift insertion S615Cfs*113 0.014 0.021 0.014 6 16 8 0.015 4 1 0 0 1 77639 chr17 66422292 66422292 A G rs77156594 WIPI1 Nonsynonymous SNV L324P 0.005 0 0.017 5 6 0 0.013 5 0 0 0 0 25 77640 chr10 28023688 28023688 C T rs148956781 MKX Nonsynonymous SNV E179K 0.01 0.008 0.017 4 12 3 0.01 5 0 0 0 0 23.1 77641 chr17 6596403 6596403 A G SLC13A5 Nonsynonymous SNV L369P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 77642 chr19 14266312 14266312 C T rs11554838 ADGRL1 Synonymous SNV L1051L 0.017 0.018 0.01 5 20 7 0.013 3 1 0 0 0 12.65 77643 chr18 43262448 43262448 A C rs144901445 SLC14A2 Synonymous SNV S909S 0.002 0.008 0.003 4 2 3 0.01 1 0 0 0 0 0.063 77644 chr19 14269195 14269195 G A rs35068509 ADGRL1 Synonymous SNV R773R 0.015 0.018 0.01 5 18 7 0.013 3 1 0 0 0 2.52 77645 chr18 43446862 43446862 C T rs148683476 EPG5 Synonymous SNV P2174P 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 Benign 18.8 77646 chr19 14269279 14269279 T G rs41276898 ADGRL1 Nonsynonymous SNV E745D 0.016 0.018 0.01 5 19 7 0.013 3 1 0 0 0 0.003 77647 chr19 14281564 14281564 C T rs75971830 ADGRL1 Synonymous SNV S108S 0.015 0.018 0.003 6 18 7 0.015 1 1 0 0 0 14.8 77648 chr19 1457006 1457006 C T rs201709261 APC2 Nonsynonymous SNV T323I 0.008 0.018 0.01 4 9 7 0.01 3 0 0 0 0 Benign/Likely benign 4.873 77649 chr17 67171555 67171555 C T ABCA10 Nonsynonymous SNV D957N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 77650 chr17 66902242 66902242 - CA rs568802874 ABCA8 Stop gain T741* 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 77651 chr18 47432860 47432860 C G rs61737448 MYO5B Nonsynonymous SNV K781N 0.006 0.016 0.01 6 7 6 0.015 3 0 0 0 0 Benign/Likely benign 22.2 77652 chr10 3145978 3145978 C T rs148155144 PFKP Synonymous SNV I127I 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 Benign 13.47 77653 chr17 6915904 6915904 G A rs749681527 RNASEK Nonsynonymous SNV G7R 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 0.048 77654 chr10 3188148 3188148 T A rs17136264 PITRM1-AS1 0 0 0.071 0 0 0 0 21 0 0 2 0 5.187 77655 chr6 142400020 142400020 G T rs138994608 NMBR Nonsynonymous SNV P148H 0.02 0.016 0.017 6 23 6 0.015 5 0 0 0 0 28.1 77656 chr19 10970610 10970610 G C rs116126071 C19orf38 Nonsynonymous SNV A161P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 77657 chr10 32780866 32780867 GA - rs780562278 CCDC7 M271Ifs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 77658 chr19 15133803 15133803 G A rs116923487 CCDC105 Nonsynonymous SNV G458S 0.013 0.008 0.01 3 15 3 0.008 3 1 0 0 0 0.005 77659 chr10 43297639 43297639 G A rs41302249 BMS1 Nonsynonymous SNV D768N 0.009 0.016 0.003 3 10 6 0.008 1 0 0 0 0 Benign 34 77660 chr19 15234351 15234351 C T rs141329359 ILVBL Nonsynonymous SNV V58M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 77661 chr18 54483298 54483298 C T rs763578321 WDR7 Nonsynonymous SNV T1043M 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 18.09 77662 chr19 11348208 11348208 C T rs114281937 DOCK6 Nonsynonymous SNV R666H 0.003 0 0 3 3 0 0.008 0 0 0 0 1 Benign 23.6 77663 chr19 11350488 11350488 C T rs2278426 ANGPTL8 Nonsynonymous SNV R59W 0.061 0.065 0.054 30 72 25 0.077 16 3 0 0 1 27.6 77664 chr19 11537006 11537006 G A rs61739937 CCDC151 Synonymous SNV R247R 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Benign 5.548 77665 chr19 11545693 11545693 T G rs61742088 CCDC151 Nonsynonymous SNV T49P 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 0.001 77666 chr17 4166897 4166897 G A ANKFY1 Synonymous SNV A43A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.02 77667 chr19 11685989 11685989 G A rs147025508 ACP5 Nonsynonymous SNV R272C 0.01 0.01 0 2 12 4 0.005 0 1 0 0 0 Conflicting interpretations of pathogenicity 21.2 77668 chr18 55996244 55996244 C T rs202231187 NEDD4L Nonsynonymous SNV S112L 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 Benign 24.6 77669 chr19 12691335 12691335 G A rs3745652 ZNF490 Synonymous SNV H518H 0.027 0.005 0.027 6 32 2 0.015 8 0 0 0 0 5.897 77670 chr19 12780179 12780179 G A rs62108388 WDR83OS Synonymous SNV N13N 0.025 0.003 0.027 8 29 1 0.021 8 0 0 0 0 11.13 77671 chr19 13059626 13059626 C T rs4987202 RAD23A Nonsynonymous SNV T200M 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 20.3 77672 chr19 15963026 15963026 T C rs2269930 CLEC4O Synonymous SNV G70G 0.02 0.023 0 4 24 9 0.01 0 0 0 0 0 1.222 77673 chr17 72246125 72246125 G A rs150861871 TTYH2 Synonymous SNV A6A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.912 77674 chr19 13925602 13925602 G A rs747433511 ZSWIM4 Nonsynonymous SNV R485Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.34 77675 chr7 33545243 33545243 G C BBS9 Nonsynonymous SNV D605H 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 28.1 77676 chr17 72791667 72791667 G A rs112849192 TMEM104 Nonsynonymous SNV A178T 0.004 0.005 0 7 5 2 0.018 0 0 0 0 0 9.363 77677 chr17 4439427 4439427 C G rs372033030 SPNS2 Synonymous SNV S467S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.68 77678 chr17 4457510 4457510 C G rs142004671 MYBBP1A Nonsynonymous SNV D120H 0.009 0.018 0.003 1 10 7 0.003 1 1 0 0 0 23.9 77679 chr17 72368421 72368421 C A rs140023314 GPR142 Synonymous SNV A269A 0.008 0.016 0.014 8 9 6 0.021 4 0 0 0 0 Benign 13.51 77680 chr18 60036669 60036669 G A rs61751992 TNFRSF11A Nonsynonymous SNV A493T 0.003 0.013 0.003 3 4 5 0.008 1 0 0 0 0 Benign/Likely benign 23.3 77681 chr10 50369666 50369666 G A rs112677967 TMEM273 Stop gain R91X 0.008 0 0.01 1 9 0 0.003 3 0 0 0 0 26.9 77682 chr17 45362028 45362028 C G ITGB3 Nonsynonymous SNV S194C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 77683 chr18 60383927 60383927 C T rs76447412 PHLPP1 Synonymous SNV P337P 0.035 0.036 0.044 12 41 14 0.031 13 1 0 0 0 6.934 77684 chr19 17056473 17056473 G A rs201266081 CPAMD8 Synonymous SNV Y893Y 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.025 77685 chr17 5338281 5338281 G A rs56014026 C1QBP Nonsynonymous SNV T130M 0.033 0.023 0.037 5 39 9 0.013 11 1 0 0 0 26.4 77686 chr17 46628518 46628518 A G rs559346033 HOXB3 Synonymous SNV G158G 0.014 0.013 0.003 4 16 5 0.01 1 0 0 0 0 0.304 77687 chr7 42005836 42005836 C G rs61758978 GLI3 Synonymous SNV L945L 0.012 0.008 0.014 0 14 3 0 4 0 0 0 0 Benign 10.01 77688 chr17 4712502 4712502 T C rs765987736 PLD2 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 77689 chr10 5557920 5557920 G A rs112874266 CALML3-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 6.568 77690 chr10 5558384 5558384 A C rs78681302 CALML3-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 3.511 77691 chr17 73814232 73814232 C T rs113278239 UNK Synonymous SNV L452L 0.021 0.018 0.014 11 25 7 0.028 4 0 0 0 0 15.3 77692 chr17 73818628 73818628 C T rs148445901 UNK Synonymous SNV P636P 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 16.57 77693 chr17 48154461 48154461 C T rs11545792 ITGA3 Synonymous SNV A682A 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 11.12 77694 chr17 48265975 48265975 G A rs145608939 COL1A1 Synonymous SNV P1041P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 15.78 77695 chr7 47436435 47436435 C G rs143025033 TNS3 Nonsynonymous SNV R329P 0.005 0.01 0.007 6 6 4 0.015 2 0 0 0 0 Likely benign 32 77696 chr10 61014187 61014187 T C rs958341744 FAM13C Nonsynonymous SNV K320R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.08 77697 chr17 74015697 74015697 G A rs117610545 EVPL Nonsynonymous SNV A350V 0.013 0.01 0.007 4 15 4 0.01 2 0 0 0 0 8.196 77698 chr10 61833470 61833470 C T rs758298759 ANK3 Nonsynonymous SNV G2390D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 77699 chr17 48460583 48460583 G A LRRC59 Synonymous SNV G230G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 77700 chr10 61932718 61932718 C G rs138823660 ANK3 Synonymous SNV G757G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.95 77701 chr10 6392683 6392683 A G rs17154307 LINC02656 0 0 0.007 0 0 0 0 2 0 0 0 0 12.92 77702 chr17 48603573 48603573 A G rs199612061 MYCBPAP Nonsynonymous SNV E720G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.93 77703 chr17 56787244 56787244 A G rs199886026 RAD51C Nonsynonymous SNV I244V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 11.11 77704 chr19 16855241 16855241 G A rs1004762754 NWD1 Nonsynonymous SNV G70S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.3 77705 chr6 167570528 167570528 C T rs35182330 GPR31 Synonymous SNV S264S 0.018 0.018 0.014 5 21 7 0.013 4 0 0 0 0 11.03 77706 chr17 49238521 49238521 G A rs753428563 NME1, NME1-NME2 Nonsynonymous SNV V77I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 77707 chr19 16973223 16973223 C T rs139223639 SIN3B Synonymous SNV F373F 0.002 0.003 0.003 0 2 1 0 1 1 0 0 0 11.4 77708 chr19 19017814 19017814 G A rs112274576 COPE Nonsynonymous SNV P133L 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 18.31 77709 chr17 60469289 60469289 T C rs61764063 EFCAB3 Synonymous SNV H86H 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 0.004 77710 chr18 9557344 9557344 C T rs754706117 PPP4R1 Nonsynonymous SNV E689K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 77711 chr19 19243175 19243175 C T rs964132 TMEM161A Synonymous SNV T143T 0.011 0.016 0.017 1 13 6 0.003 5 0 0 0 0 11.52 77712 chr7 55266456 55266456 C T rs41396448 EGFR Synonymous SNV D649D 0.005 0.003 0.007 6 6 1 0.015 2 0 0 0 0 Benign 9.126 77713 chr17 76073346 76073346 A G TNRC6C Synonymous SNV A1044A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.157 77714 chr19 20728694 20728694 G A rs372765472 ZNF737 Synonymous SNV N105N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.06 77715 chr7 56020992 56020992 T G rs144294259 MRPS17 Nonsynonymous SNV L35R 0.008 0 0 1 9 0 0.003 0 0 0 0 0 32 77716 chr17 54981766 54981766 C T rs755407802 TRIM25 Synonymous SNV S259S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.54 77717 chr19 10085062 10085062 C T rs111357806 COL5A3 Nonsynonymous SNV R1122H 0.016 0.01 0.01 13 19 4 0.033 3 0 0 0 0 31 77718 chr17 56280447 56280447 A T rs2302311 EPX Nonsynonymous SNV N572Y 0.015 0.005 0.024 4 18 2 0.01 7 0 0 0 0 Benign 27.6 77719 chr17 63532594 63532594 A G rs142476324 AXIN2 Nonsynonymous SNV L597P 0.009 0 0 2 10 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.46 77720 chr19 10131401 10131401 T C rs2233796 RDH8 Synonymous SNV D153D 0.016 0.01 0.01 9 19 4 0.023 3 0 0 0 0 0.944 77721 chr19 2243450 2243450 C T rs7252549 SF3A2 Synonymous SNV T11T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.83 77722 chr19 17476153 17476153 T G rs142500391 PLVAP Nonsynonymous SNV Q374P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.05 77723 chr19 1013256 1013256 G T rs142622215 TMEM259 Synonymous SNV P197P 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 11.46 77724 chr19 10221642 10221642 A G rs11559188 PPAN, PPAN-P2RY11 Nonsynonymous SNV Q355R 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 0.001 77725 chr17 76499114 76499114 G C rs756683981 DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.258 77726 chr19 10224937 10224937 G A rs115986278 P2RY11, PPAN-P2RY11 Synonymous SNV L216L 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 Benign 5.476 77727 chr19 10226701 10226701 C T rs28510792 EIF3G Synonymous SNV P215P 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 13.7 77728 chr7 2302977 2302977 G A rs10229132 SNX8 Nonsynonymous SNV T268I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.45 77729 chr10 75113495 75113495 A T rs147289084 CFAP70 Synonymous SNV G23G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 77730 chr19 17783304 17783304 G A rs202115985 UNC13A Synonymous SNV F51F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.067 77731 chr7 2552882 2552885 GATG - rs61564232 LFNG D55Sfs*141 0.009 0.016 0.017 4 10 6 0.01 5 0 1 1 0 77732 chr7 73471717 73471717 G A rs370619098 ELN Nonsynonymous SNV A455T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.056 77733 chr7 2611908 2611908 G C rs147584030 IQCE Synonymous SNV L49L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 5.091 77734 chr10 75519982 75519982 C T rs141953475 SEC24C Nonsynonymous SNV L230F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 77735 chr10 75551919 75551919 G A rs759947635 ZSWIM8 Nonsynonymous SNV R541Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 77736 chr17 77808824 77808824 C T CBX4 Nonsynonymous SNV G206D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 77737 chr17 7689576 7689576 C T rs117091920 DNAH2 Synonymous SNV S2088S 0.007 0.029 0.003 1 8 11 0.003 1 0 1 0 0 13.43 77738 chr17 78063949 78063949 A G CCDC40 Synonymous SNV R948R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.752 77739 chr7 75864463 75864463 T G rs6966223 SRRM3 Nonsynonymous SNV S27A 0.013 0.005 0.007 2 15 2 0.005 2 0 0 0 0 8.777 77740 chr19 18321757 18321757 G A rs150088794 PDE4C Synonymous SNV L476L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.98 77741 chr10 79566664 79566664 C T rs147733899 DLG5 Nonsynonymous SNV D1607N 0.009 0.005 0.014 6 10 2 0.015 4 0 0 0 0 Likely benign 22.8 77742 chr10 79579695 79579695 G A rs200091104 DLG5 Nonsynonymous SNV R1162W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 77743 chr17 78064116 78064116 - GGGACGCGCGCAGGCACGTGCACGAACAA CCDC40 Frameshift insertion H1023Qfs*29 0.009 0.008 0.003 1 11 3 0.003 1 3 1 0 0 77744 chr19 2994975 2994975 C T rs150135561 TLE6 Synonymous SNV H441H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 8.356 77745 chr19 1054620 1054620 G A rs760680707 ABCA7 Nonsynonymous SNV V1260M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 77746 chr19 3011086 3011086 C T rs201317355 TLE2 Nonsynonymous SNV G194R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.8 77747 chr10 85960404 85960404 G C rs74145715 CDHR1 Nonsynonymous SNV R162S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.77 77748 chr10 85961584 85961584 G A rs142109115 CDHR1 Nonsynonymous SNV V183M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.086 77749 chr10 85962824 85962824 C T rs7086200 CDHR1 Nonsynonymous SNV A243V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.4 77750 chr19 18707836 18707836 C T CRLF1 Nonsynonymous SNV V241M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 77751 chr19 3179792 3179792 C T rs146476759 S1PR4 Synonymous SNV P334P 0.032 0.034 0.024 8 37 13 0.021 7 0 2 0 0 8.312 77752 chr10 85981756 85981756 G T rs74145770 LRIT2 Nonsynonymous SNV P525T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 77753 chr19 18956797 18956797 C T rs35427308 UPF1 Synonymous SNV P80P 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 14.87 77754 chr19 18994935 18994935 A T CERS1 Nonsynonymous SNV V86E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 77755 chr10 85982075 85982075 A G rs7901410 LRIT2 Synonymous SNV Y418Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 77756 chr17 67084360 67084360 A C rs201339605 ABCA6 Nonsynonymous SNV C1216G 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 23.6 77757 chr7 6550540 6550540 G A rs61732373 GRID2IP Synonymous SNV C518C 0.031 0.026 0.017 10 36 10 0.026 5 1 0 0 1 5.46 77758 chr10 88679200 88679200 C T rs35572415 BMPR1A Synonymous SNV D380D 0.043 0.023 0.034 10 51 9 0.026 10 0 0 0 0 Benign 12.07 77759 chr17 6328845 6328845 C A rs201875142 AIPL1 Nonsynonymous SNV A301S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 0.001 77760 chr10 88705420 88705420 T C rs148062644 MMRN2 Nonsynonymous SNV K64R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.504 77761 chr10 89487046 89487046 G A rs45467596 PAPSS2 Nonsynonymous SNV V291M 0.022 0.01 0.003 10 26 4 0.026 1 0 0 0 0 Benign 25.7 77762 chr17 79210848 79210848 T G rs746058891 TEPSIN Nonsynonymous SNV S49R 0.003 0 0 0 3 0 0 0 0 0 0 0 25 77763 chr7 12382770 12382770 T A rs199627971 VWDE Synonymous SNV T1256T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 13.03 77764 chr10 92912588 92912588 G A rs12266933 NUDT9P1 0 0 0.099 0 0 0 0 29 0 0 2 0 0.853 77765 chr10 92912773 92912773 A C rs17553262 NUDT9P1 0 0 0.092 0 0 0 0 27 0 0 2 0 0.119 77766 chr19 3543980 3543980 C T rs190228213 C19orf71 Nonsynonymous SNV P201L 0.011 0.023 0.017 3 13 9 0.008 5 1 0 0 0 6.319 77767 chr19 35648331 35648331 G A rs149367243 FXYD5 Synonymous SNV T23T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.446 77768 chr19 23316947 23316947 C T rs11670477 ZNF730 Synonymous SNV T23T 0.035 0.018 0.054 14 41 7 0.036 16 2 0 0 0 9.74 77769 chr17 72351078 72351078 C T rs200946199 KIF19 Nonsynonymous SNV T955M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22 77770 chr7 99022542 99022542 C T rs139956151 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV G538E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.9 77771 chr17 80006619 80006619 C T rs144203478 RFNG Nonsynonymous SNV A327T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.227 77772 chr17 72436958 72436958 C T rs147088573 GPRC5C Nonsynonymous SNV P348L 0.003 0 0 0 3 0 0 0 0 0 0 0 21.4 77773 chr17 8021407 8021407 G C rs112227180 ALOXE3 Nonsynonymous SNV R100G 0.02 0.01 0.01 11 24 4 0.028 3 1 0 0 0 Benign 0.155 77774 chr17 67513674 67513674 A T rs200064105 MAP2K6 Nonsynonymous SNV I56L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 20.6 77775 chr7 99769447 99769447 C T GPC2 Synonymous SNV E375E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.11 77776 chr19 3600552 3600552 C T rs758498665 TBXA2R Synonymous SNV S27S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.64 77777 chr10 98778379 98778379 G A rs750007616 SLIT1 Nonsynonymous SNV T978I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.6 77778 chr17 80274603 80274603 T C rs34579511 CD7 Nonsynonymous SNV T113A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 77779 chr17 72851210 72851210 C T rs80016270 GRIN2C Nonsynonymous SNV A8T 0.016 0.008 0 3 19 3 0.008 0 0 0 0 0 Likely benign 15.78 77780 chr17 80332743 80332743 G A rs34582297 UTS2R Synonymous SNV T181T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 11.97 77781 chr19 3611927 3611927 C T rs45484703 CACTIN Synonymous SNV R757R 0.005 0.013 0.007 0 6 5 0 2 0 0 0 0 10.72 77782 chr19 3612341 3612341 C T rs45525640 CACTIN Synonymous SNV A619A 0.009 0.023 0.014 2 10 9 0.005 4 0 0 0 0 13.01 77783 chr17 80399056 80399056 C T rs200753176 HEXD Nonsynonymous SNV P389L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 1.289 77784 chr19 2853650 2853650 G A rs45587443 ZNF555 Synonymous SNV T528T 0.02 0.021 0.014 1 24 8 0.003 4 0 0 0 0 14.02 77785 chr17 80400164 80400164 G A rs140743740 HEXD Nonsynonymous SNV C485Y 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 24.6 77786 chr17 80400236 80400236 C A rs150076334 HEXD Nonsynonymous SNV A509E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 22.7 77787 chr17 80615889 80615889 G A rs62638692 RAB40B Synonymous SNV N229N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.711 77788 chr19 3613651 3613651 T C rs71339194 CACTIN-AS1 0.009 0.023 0.014 2 10 9 0.005 4 0 0 0 0 1.296 77789 chr17 72958366 72958366 G A rs147489114 HID1 Nonsynonymous SNV H192Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 19.84 77790 chr17 80915272 80915272 C T rs147050316 B3GNTL1 Nonsynonymous SNV R97Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 77791 chr17 81006620 81006620 G A rs74959032 B3GNTL1 Synonymous SNV D34D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 6.333 77792 chr19 1468734 1468734 C T rs777576770 APC2 Nonsynonymous SNV R1811C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 77793 chr17 7323980 7323980 T C rs199795512 SPEM1 Nonsynonymous SNV V60A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.764 77794 chr19 33182993 33182993 C T rs200386314 NUDT19 Nonsynonymous SNV R43W 0.021 0.016 0.014 9 25 6 0.023 4 0 0 0 0 33 77795 chr7 29924159 29924159 C T rs200533925 WIPF3 Nonsynonymous SNV A350V 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 13.6 77796 chr17 72346918 72346918 C T rs73995260 KIF19 Synonymous SNV D487D 0.054 0.055 0.037 28 63 21 0.072 11 2 2 0 0 14.67 77797 chr18 10789217 10789217 T C PIEZO2 Nonsynonymous SNV N677D 0.007 0 0 0 8 0 0 0 0 0 0 0 14.54 77798 chr18 12720668 12720668 A G rs764790038 PSMG2 Synonymous SNV T189T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.609 77799 chr18 13056046 13056046 G A rs141618343 CEP192 Nonsynonymous SNV V1153I 0.005 0.003 0.007 12 6 1 0.031 2 0 0 0 0 0.948 77800 chr18 19243664 19243664 A G rs2305684 ABHD3 Nonsynonymous SNV W20R 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 18.84 77801 chr19 15364510 15364510 A T BRD4 Nonsynonymous SNV L748H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.639 77802 chr19 1555880 1555880 C T rs75438199 MEX3D Synonymous SNV P546P 0.014 0.023 0.031 7 17 9 0.018 9 2 2 1 1 10.15 77803 chr19 15558918 15558918 G T rs62115899 WIZ Synonymous SNV I67I 0.026 0.029 0.017 18 31 11 0.046 5 0 1 0 0 12.66 77804 chr19 35760894 35760894 G A rs765909692 USF2 Synonymous SNV A139A 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 15.18 77805 chr19 36387364 36387364 T C rs759812853 NFKBID Nonsynonymous SNV N127S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 77806 chr17 76157077 76157077 G A rs980212271 C17orf99 Nonsynonymous SNV V38I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.17 77807 chr18 29225329 29225329 G T rs369396189 B4GALT6 Nonsynonymous SNV P115T 0.008 0.005 0 0 9 2 0 0 0 0 0 0 28.4 77808 chr17 76400073 76400073 C T rs144934446 PGS1 Synonymous SNV I435I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.86 77809 chr19 38912664 38912664 C T RASGRP4 Synonymous SNV L51L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 77810 chr19 38976641 38976641 C T rs762772302 RYR1 Synonymous SNV F1782F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 77811 chr17 76511089 76511089 C T rs61736352 DNAH17 Nonsynonymous SNV E1294K 0.022 0.018 0.02 9 26 7 0.023 6 0 0 0 0 22.8 77812 chr11 102710982 102710982 T C rs3025065 MMP3 Synonymous SNV G264G 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 0.853 77813 chr17 76533410 76533410 G A rs200709141 DNAH17 Nonsynonymous SNV R944W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.3 77814 chr19 3752644 3752644 G A APBA3 Synonymous SNV P419P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 77815 chr18 32712154 32712154 C T rs376071715 MAPRE2 Synonymous SNV H250H 0.008 0 0 3 9 0 0.008 0 0 0 0 0 11.04 77816 chr19 39423057 39423057 C T rs769557703 MRPS12 Nonsynonymous SNV P45L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 77817 chr7 45956969 45956969 T G rs9282734 IGFBP3 Nonsynonymous SNV H158P 0.011 0.008 0.01 6 13 3 0.015 3 0 0 0 0 0.131 77818 chr18 33067395 33067395 G A rs2422312 INO80C Synonymous SNV L73L 0.014 0.005 0 4 17 2 0.01 0 3 0 0 2 5.879 77819 chr7 47408659 47408659 G A rs770876695 TNS3 Synonymous SNV N528N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.335 77820 chr19 39804837 39804837 C T rs61730567 LRFN1 Synonymous SNV T380T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.393 77821 chr19 39876556 39876556 C T rs117151141 PAF1 Synonymous SNV X486X 0.02 0.021 0.034 5 24 8 0.013 10 0 0 0 1 14.37 77822 chr19 39880011 39880011 G A rs2074852 PAF1 Synonymous SNV H114H 0.038 0.036 0.058 13 45 14 0.033 17 0 0 0 1 3.866 77823 chr17 74562258 74562258 G A rs549538193 ST6GALNAC2 Synonymous SNV H351H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.966 77824 chr17 77709132 77709132 C T rs782025150 ENPP7 Synonymous SNV I230I 0.006 0 0 6 7 0 0.015 0 0 0 0 0 9.512 77825 chr18 34289097 34289097 C T rs144847554 FHOD3 Nonsynonymous SNV P567L 0.007 0 0 3 8 0 0.008 0 0 0 0 0 14.45 77826 chr18 33736490 33736490 T C rs149870655 ELP2 Nonsynonymous SNV M376T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 17.28 77827 chr19 38896204 38896204 T G rs117354953 FAM98C Nonsynonymous SNV C201G 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 25 77828 chr17 7496411 7496411 G A rs61730843 FXR2 Synonymous SNV P473P 0.012 0 0.007 7 14 0 0.018 2 1 0 0 0 Benign 2.27 77829 chr18 34205521 34205521 C A rs149677982 FHOD3 Synonymous SNV P335P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 16.23 77830 chr7 48146562 48146562 A T rs778804093 UPP1 Nonsynonymous SNV I40F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.038 77831 chr18 34232611 34232611 G A FHOD3 Synonymous SNV S455S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 9.32 77832 chr17 76121868 76121868 G A rs142758270 TMC6 Synonymous SNV S123S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.24 77833 chr19 17844229 17844229 G C rs114901293 MAP1S Nonsynonymous SNV D980H 0.011 0.008 0 6 13 3 0.015 0 0 0 0 0 24.5 77834 chr11 111383846 111383846 C T rs2187473 LOC728196 0 0 0.146 0 0 0 0 43 0 0 3 0 9.365 77835 chr18 43534930 43534930 C T rs186410807 EPG5 Synonymous SNV S146S 0.014 0.013 0 3 16 5 0.008 0 1 0 0 0 Likely benign 10.5 77836 chr19 39924378 39924378 G A rs141530228 RPS16 Synonymous SNV L58L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.62 77837 chr17 76422599 76422599 C T rs35973257 DNAH17 Nonsynonymous SNV R4285Q 0.025 0.031 0.034 11 29 12 0.028 10 0 0 1 0 Likely benign 27.2 77838 chr18 44435344 44435344 T C rs61749949 PIAS2 Synonymous SNV L230L 0.018 0.016 0.01 8 21 6 0.021 3 1 0 0 0 Benign 7.168 77839 chr19 17983458 17983458 C T rs145238835 SLC5A5 Synonymous SNV Y110Y 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.853 77840 chr17 76455883 76455883 G A rs749803077 DNAH17 Synonymous SNV A3212A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 77841 chr17 78318686 78318686 A G rs138595111 RNF213 Nonsynonymous SNV Q2184R 0.014 0.008 0.007 9 16 3 0.023 2 0 0 0 0 Likely benign 0.005 77842 chr19 40321142 40321142 T C DYRK1B Nonsynonymous SNV K82R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 77843 chr11 113078586 113078586 G A rs17115160 NCAM1 Nonsynonymous SNV D260N 0.024 0.023 0.014 7 28 9 0.018 4 0 0 0 0 10.83 77844 chr7 100683067 100683067 C T rs112360991 MUC17 Synonymous SNV S2790S 0.009 0.008 0.031 2 11 3 0.005 9 0 0 0 0 4.859 77845 chr17 7832571 7832571 G C rs375287703 KCNAB3 Synonymous SNV P61P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 6.162 77846 chr18 44219702 44219702 C T LOXHD1 Nonsynonymous SNV D130N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 77847 chr17 76503678 76503678 C A rs59853990 DNAH17 Synonymous SNV A1482A 0.029 0.013 0.037 13 34 5 0.033 11 1 0 0 0 11.18 77848 chr18 46287781 46287781 G A rs141427281 CTIF Synonymous SNV T364T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.01 77849 chr11 113295315 113295315 C T rs199932425 DRD2 Nonsynonymous SNV R20Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 77850 chr7 101921292 101921292 A C rs118010189 CUX1 Nonsynonymous SNV K530Q 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 27.3 77851 chr17 7664166 7664166 T C DNAH2 Nonsynonymous SNV I965T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 77852 chr19 4097324 4097324 G A rs772831628 MAP2K2 Nonsynonymous SNV R313W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.1 77853 chr19 42083644 42083644 C A rs782014553 CEACAM21 Nonsynonymous SNV L53I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 77854 chr11 113934694 113934694 C G rs35784831 ZBTB16 Synonymous SNV P224P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 7.898 77855 chr19 41173884 41173898 TGCTGCTGCTGCTGT - rs758624756 NUMBL Q401_Q405del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 77856 chr17 7909928 7909928 G C rs375468242 GUCY2D Nonsynonymous SNV G425A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.21 77857 chr7 100551405 100551405 C T rs77396231 MUC3A Synonymous SNV T662T 0.012 0.013 0.003 5 14 5 0.013 1 0 0 0 0 4.696 77858 chr19 4168351 4168351 G A rs778428363 CREB3L3 Nonsynonymous SNV E239K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 34 77859 chr18 51809264 51809264 A G rs200692792 POLI Nonsynonymous SNV D164G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 29.4 77860 chr17 79210564 79210564 G A rs372865772 TEPSIN Nonsynonymous SNV S84F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.2 77861 chr19 19042905 19042905 G A rs80104014 HOMER3 Synonymous SNV F154F 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 16.9 77862 chr17 78023869 78023869 G A rs61998241 CCDC40 Nonsynonymous SNV A316T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.9 77863 chr17 78041365 78041365 A G rs11867810 CCDC40 Nonsynonymous SNV T542A 0.012 0.018 0.007 3 14 7 0.008 2 0 0 0 0 5.723 77864 chr17 78041467 78041467 A G rs35892854 CCDC40 Nonsynonymous SNV I576V 0.012 0.018 0.007 3 14 7 0.008 2 0 0 0 0 0.847 77865 chr17 78041471 78041471 G A rs75855179 CCDC40 Nonsynonymous SNV R577H 0.012 0.018 0.007 3 14 7 0.008 2 0 0 0 0 0.13 77866 chr17 78041472 78041472 C T rs116296171 CCDC40 Synonymous SNV R577R 0.012 0.018 0.007 3 14 7 0.008 2 0 0 0 0 0.123 77867 chr17 78058613 78058613 G A rs189617808 CCDC40 Synonymous SNV R687R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.017 77868 chr11 117866311 117866311 C T rs4252311 IL10RA Synonymous SNV T232T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 14.45 77869 chr19 4216549 4216549 C T ANKRD24 Synonymous SNV I464I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.77 77870 chr19 19745901 19745901 G A rs34970769 GMIP Nonsynonymous SNV P532L 0.002 0.008 0.01 1 2 3 0.003 3 0 0 0 0 26.8 77871 chr7 107217904 107217904 A G DUS4L Nonsynonymous SNV M285V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 77872 chr18 56196369 56196371 TAG - rs763766034 ALPK2 T1818del 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 77873 chr7 107423773 107423773 G A rs35576676 SLC26A3 Synonymous SNV D332D 0.005 0.01 0.024 2 6 4 0.005 7 0 0 0 0 Benign/Likely benign 5.9 77874 chr17 79667612 79667612 T A rs138665031 HGS Synonymous SNV T666T 0.02 0.029 0.014 7 23 11 0.018 4 0 0 0 2 Benign 5.801 77875 chr19 20307777 20307777 G A rs112723967 ZNF486 Synonymous SNV V86V 0.048 0.076 0.041 18 56 29 0.046 12 0 0 1 0 1.342 77876 chr7 107580748 107580748 G A rs115436001 LAMB1 Synonymous SNV G1149G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.99 77877 chr17 78091513 78091513 G A rs1800314 GAA Nonsynonymous SNV V816I 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 Benign/Likely benign 13.47 77878 chr19 2078529 2078529 T A MOB3A Nonsynonymous SNV N11Y 0.007 0.016 0 2 8 6 0.005 0 0 0 0 0 23.9 77879 chr18 56203136 56203136 T C rs56145533 ALPK2 Nonsynonymous SNV Q1428R 0.015 0.026 0.027 9 18 10 0.023 8 0 0 0 0 2.696 77880 chr17 78092585 78092585 C T rs1800315 GAA Nonsynonymous SNV T927I 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign/Likely benign 23.9 77881 chr17 78179408 78179408 G A rs2289541 CARD14 Nonsynonymous SNV R883H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 9.374 77882 chr11 118873987 118873987 T C rs9645664 RPL23AP64 0 0 0.167 0 0 0 0 49 0 0 7 0 1.658 77883 chr7 110763503 110763503 A G rs35229264 LRRN3 Synonymous SNV T225T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 0.006 77884 chr11 118895962 118895962 G A rs61730035 SLC37A4 Synonymous SNV N354N 0.024 0.018 0.041 6 28 7 0.015 12 0 0 0 0 Benign 10.52 77885 chr19 42776189 42776189 C T CIC Nonsynonymous SNV P85L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.96 77886 chr19 42795404 42795404 C T rs45535837 CIC Synonymous SNV I828I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 10.98 77887 chr7 113519486 113519486 C T rs777816791 PPP1R3A Nonsynonymous SNV G554E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.692 77888 chr7 75609780 75609780 G A rs200112691 POR Nonsynonymous SNV V164M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.209 77889 chr19 21720435 21720435 A - rs199679715 ZNF429 H463Lfs*157 0.015 0.013 0.007 8 18 5 0.021 2 1 0 0 0 77890 chr19 21991832 21991832 T C rs150475394 ZNF43 Nonsynonymous SNV H271R 0.014 0.01 0.003 2 16 4 0.005 1 0 0 0 0 22.5 77891 chr17 80195642 80195642 C T rs199930118 SLC16A3 Synonymous SNV Y332Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.865 77892 chr17 80211006 80211006 C T CSNK1D Nonsynonymous SNV G151R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 77893 chr19 22154250 22154417 GTTTCTCTCCAGTATGAATTACCTTATGTTTTGCAAGGATTGAGAACATAACAAAGCCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTACAGTATGAATTTTCTTATGATAACTAAGGGTTGAGGACCACTTATAGGCTTTGCCACATTCTTCACATTTGTAGG - ZNF208 P1140_K1195del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 77894 chr11 119996560 119996560 G A rs200991578 TRIM29 Nonsynonymous SNV P130L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 77895 chr18 59806307 59806307 C T PIGN Nonsynonymous SNV G342E 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 32 77896 chr18 59854993 59854993 C T rs140959449 RELCH Synonymous SNV T85T 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 13.11 77897 chr17 80899349 80899349 T C rs2292969 TBCD Nonsynonymous SNV L1185P 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 Benign 23.9 77898 chr11 121440937 121440937 T C rs146903951 SORL1 Nonsynonymous SNV F1099L 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Benign 18.34 77899 chr19 23927029 23927029 C G ZNF681 Nonsynonymous SNV K441N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.8 77900 chr7 127991493 127991493 G C rs773454660 PRRT4 Nonsynonymous SNV P706R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.042 77901 chr19 44470342 44470342 G A rs141280773 ZNF221 Nonsynonymous SNV V230M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.16 77902 chr18 61584726 61584726 G T rs143009235 SERPINB10 Nonsynonymous SNV D69Y 0.011 0.003 0.007 5 13 1 0.013 2 0 0 0 0 0.001 77903 chr7 88963070 88963070 A G ZNF804B Synonymous SNV Q258Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 77904 chr18 6729914 6729914 C G rs534903406 ARHGAP28 Nonsynonymous SNV R32G 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 23.2 77905 chr18 67802449 67802449 T C rs35139926 RTTN Synonymous SNV L40L 0.009 0.005 0 0 10 2 0 0 1 0 0 0 Benign 9.334 77906 chr7 91980270 91980270 G T ANKIB1 Nonsynonymous SNV L364F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 77907 chr17 8013513 8013513 A T rs761241768 ALOXE3 Nonsynonymous SNV L400Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 77908 chr17 80273234 80273234 C T rs113733263 CD7 Nonsynonymous SNV R229H 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 17.76 77909 chr7 133863343 133863343 C T rs61749957 LRGUK Nonsynonymous SNV P399L 0.012 0.016 0.01 2 14 6 0.005 3 1 0 0 0 35 77910 chr17 80333194 80333194 G C rs751751246 UTS2R Nonsynonymous SNV G332R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 77911 chr17 80397586 80397586 C T rs146934766 HEXD Nonsynonymous SNV R235C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 77912 chr19 33301171 33301171 C T rs73035345 TDRD12 Nonsynonymous SNV T942M 0.032 0.039 0.01 15 37 15 0.038 3 0 1 0 1 26.4 77913 chr7 134896210 134896210 G A rs147393244 WDR91 Synonymous SNV Y15Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.96 77914 chr19 34263103 34263103 C A rs756906111 CHST8 Nonsynonymous SNV P137Q 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 14.25 77915 chr18 20817206 20817206 C T rs45518733 CABLES1 Synonymous SNV Y481Y 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 11.34 77916 chr18 74611130 74611130 C T rs8093707 ZNF236 Nonsynonymous SNV P616S 0.009 0.008 0.01 0 10 3 0 3 0 0 0 0 Benign 21.8 77917 chr19 45848817 45848817 G A rs908786007 KLC3 Synonymous SNV A6A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.579 77918 chr18 21214102 21214102 G A rs35228796 ANKRD29 Synonymous SNV T114T 0.006 0 0.003 0 7 0 0 1 0 0 0 0 13.48 77919 chr18 21330941 21330941 C T rs750401726 LAMA3 Synonymous SNV T248T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.84 77920 chr18 10471940 10471940 T C APCDD1 Nonsynonymous SNV L219P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.249 77921 chr19 45322316 45322316 C T rs117737673 BCAM Nonsynonymous SNV S447L 0.026 0.016 0.031 7 30 6 0.018 9 0 0 0 0 6.571 77922 chr7 141423728 141423728 - T rs199758946 WEE2-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 77923 chr19 35758745 35758745 G C rs62112774 LSR Nonsynonymous SNV E537Q 0.013 0.016 0.003 8 15 6 0.021 1 0 0 0 0 23.9 77924 chr19 10080281 10080281 A G rs62638754 COL5A3 Synonymous SNV P1356P 0.02 0.016 0.017 10 23 6 0.026 5 0 0 0 0 1.021 77925 chr18 13885438 13885438 G C rs28926178 MC2R Nonsynonymous SNV P27R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 27.1 77926 chr19 36221350 36221350 C T rs763842063 KMT2B Synonymous SNV I1728I 0.003 0.01 0.003 3 3 4 0.008 1 0 0 0 0 16.53 77927 chr19 47570343 47570343 G A rs141514527 ZC3H4 Nonsynonymous SNV A1061V 0.02 0.013 0.007 3 24 5 0.008 2 2 0 0 0 7.71 77928 chr19 10221669 10221669 G A rs74406884 PPAN, PPAN-P2RY11 Nonsynonymous SNV R364Q 0.007 0.008 0.02 2 8 3 0.005 6 0 0 0 0 1.491 77929 chr19 47725036 47725036 G A rs202031784 BBC3 Synonymous SNV D76D 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign 10.34 77930 chr18 2909700 2909700 C T rs56288451 EMILIN2 Nonsynonymous SNV P903S 0.044 0.057 0.048 8 52 22 0.021 14 4 0 1 0 10.65 77931 chr7 143085695 143085695 C A rs146818692 ZYX Nonsynonymous SNV Q389K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.5 77932 chr19 4682879 4682880 AG - rs148398571 DPP9-AS1 0.011 0.003 0.007 5 13 1 0.013 2 0 0 0 0 77933 chr19 46850411 46850411 C G rs770899505 PPP5C Nonsynonymous SNV P20A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 9.9 77934 chr19 47575638 47575638 C A rs778802046 ZC3H4 Synonymous SNV T591T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.7 77935 chr11 134109924 134109924 T C rs35378544 VPS26B Synonymous SNV D140D 0.019 0.021 0.024 10 22 8 0.026 7 0 0 0 0 7.266 77936 chr19 37309922 37309922 T C rs142182761 ZNF790 Nonsynonymous SNV K442E 0.004 0.01 0 6 5 4 0.015 0 0 0 0 0 24.6 77937 chr7 148288054 148288054 T C rs145588023 C7orf33 Nonsynonymous SNV C13R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.001 77938 chr18 334752 334752 C T rs139503424 COLEC12 Synonymous SNV P602P 0.007 0.005 0 0 8 2 0 0 1 0 0 0 9.605 77939 chr19 48254334 48254334 C T rs34462252 NOP53 Nonsynonymous SNV R190W 0.017 0.026 0 0 20 10 0 0 0 0 0 0 24.5 77940 chr7 149493782 149493782 G A rs76190154 SSPO 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 0.749 77941 chr7 149499152 149499152 C T rs140977594 SSPO 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 11.82 77942 chr19 3813885 3813885 C T rs770780801 ZFR2 Synonymous SNV E725E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.967 77943 chr18 2913129 2913129 C T rs202121105 EMILIN2 Synonymous SNV D963D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.57 77944 chr7 150037550 150037550 G T rs149958489 RARRES2 Nonsynonymous SNV T50N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 77945 chr19 48602995 48602995 G A rs11564532 PLA2G4C Nonsynonymous SNV A137V 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 24.4 77946 chr19 1067422 1067422 A G rs76139012 ARHGAP45 Synonymous SNV K6K 0.006 0.013 0.017 4 7 5 0.01 5 0 0 0 0 17.99 77947 chr19 48848554 48848554 C T rs34488893 TMEM143 Nonsynonymous SNV D108N 0.007 0.013 0.027 1 8 5 0.003 8 0 0 0 0 16.53 77948 chr18 43534944 43534944 C T rs190673127 EPG5 Nonsynonymous SNV E142K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Uncertain significance 12.37 77949 chr19 39329205 39329205 C T rs45510794 HNRNPL Synonymous SNV Q330Q 0.03 0.049 0.034 29 35 19 0.074 10 0 0 1 1 14.86 77950 chr19 49447628 49447628 C T rs775108712 DHDH Synonymous SNV C253C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 77951 chr19 49447749 49447750 GA - rs3835153 DHDH E294Vfs*18 0.031 0.036 0.051 12 36 14 0.031 15 0 0 2 0 77952 chr7 150905167 150905167 G A rs2792441 H2BE1, LOC114483834 Nonsynonymous SNV P632L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 77953 chr19 11437480 11437480 C G rs318687 TSPAN16 Nonsynonymous SNV S233C 0.014 0.029 0 11 16 11 0.028 0 2 2 0 1 1.98 77954 chr7 150935124 150935124 C T rs28774985 CHPF2 Nonsynonymous SNV T559M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 77955 chr18 42530692 42530692 C T rs201930325 SETBP1 Nonsynonymous SNV R463C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 77956 chr7 150939912 150939912 G A rs61730149 SMARCD3 Synonymous SNV P117P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.29 77957 chr19 49611494 49611499 CGTGAC - rs763071985 SNRNP70 D366_R367del 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 77958 chr7 151573647 151573647 C A rs116605521 PRKAG2 Nonsynonymous SNV S20I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 23.8 77959 chr19 49636392 49636392 G A rs141749268 PPFIA3 Synonymous SNV S338S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.58 77960 chr19 11660538 11660538 G T rs10401174 CNN1 Synonymous SNV L274L 0.009 0.005 0.014 1 11 2 0.003 4 0 0 0 0 1.652 77961 chr11 19781594 19781594 G A rs77717467 MIR4694 0 0 0.01 0 0 0 0 3 0 0 0 0 1.404 77962 chr19 12126123 12126123 G C rs1001749808 ZNF433 Nonsynonymous SNV S520C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.64 77963 chr19 49842671 49842671 G C CD37 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 77964 chr18 44595647 44595647 C T rs56297904 KATNAL2 Synonymous SNV G150G 0.009 0.01 0.017 3 11 4 0.008 5 0 0 0 0 Benign 17.65 77965 chr18 44624592 44624592 - A rs35678878 KATNAL2 Frameshift insertion S281Kfs*11 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 77966 chr18 5396324 5396324 G T rs61735459 EPB41L3 Nonsynonymous SNV T728K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.45 77967 chr19 40276664 40276664 A C rs376613498 LEUTX Synonymous SNV I132I 0.01 0.016 0 2 12 6 0.005 0 0 0 0 0 0.002 77968 chr18 48603091 48603091 C T rs140487104 SMAD4 Synonymous SNV A464A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 16.03 77969 chr18 5489076 5489076 G A EPB41L3 Nonsynonymous SNV P36L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.17 77970 chr19 12792390 12792390 T C rs34610671 DHPS Nonsynonymous SNV Q64R 0.003 0 0 0 4 0 0 0 0 0 0 0 18.22 77971 chr19 50435921 50435921 C T rs201354210 ATF5 Nonsynonymous SNV L141F 0.025 0.036 0 10 29 14 0.026 0 0 1 0 1 0.006 77972 chr19 40729162 40729162 C G CNTD2 Nonsynonymous SNV E241Q 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 24.5 77973 chr18 55283105 55283105 T C NARS1 Nonsynonymous SNV I66V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.5 77974 chr19 12758105 12758105 C G rs148108322 MAN2B1 Synonymous SNV T955T 0.012 0.013 0.017 5 14 5 0.013 5 0 0 0 0 Conflicting interpretations of pathogenicity 16.41 77975 chr19 501739 501739 G A rs780489287 MADCAM1 Synonymous SNV P246P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.223 77976 chr19 501790 501790 G A rs758217356 MADCAM1 Synonymous SNV E263E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.254 77977 chr19 12936693 12936693 C T rs148952767 RTBDN Nonsynonymous SNV V173M 0.012 0.005 0.02 2 14 2 0.005 6 0 0 0 0 24.1 77978 chr8 623604 623604 C A rs145547111 ERICH1 Nonsynonymous SNV G250C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.95 77979 chr19 12969538 12969538 A G MAST1 Nonsynonymous SNV M451V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 77980 chr19 50917023 50917023 G A rs145473716 POLD1 Nonsynonymous SNV V785I 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 77981 chr19 50548004 50548004 T C rs139919364 ZNF473 Synonymous SNV L90L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.121 77982 chr18 56184343 56184343 G A rs34823643 ALPK2 Nonsynonymous SNV R1913C 0.005 0.008 0.003 7 6 3 0.018 1 0 0 0 0 Benign 32 77983 chr19 50713814 50713814 G T rs181055215 MYH14 Synonymous SNV G64G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 5.185 77984 chr19 51165878 51165878 A G rs201299941 SHANK1 Nonsynonymous SNV W1944R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.42 77985 chr19 50796567 50796567 T C rs115844649 MYH14 Synonymous SNV G1737G 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 6.242 77986 chr19 41622205 41622205 T C rs58285195 CYP2F1 Nonsynonymous SNV S38P 0.037 0.049 0.041 15 44 19 0.038 12 0 1 0 1 0.654 77987 chr19 51295044 51295044 C T rs770242971 ACP4 Synonymous SNV P145P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.715 77988 chr19 51410286 51410286 G A rs35945487 KLK4 Synonymous SNV F128F 0.022 0.013 0.02 11 26 5 0.028 6 2 0 0 1 6.361 77989 chr7 100802411 100802411 G T rs142485973 AP1S1 Synonymous SNV G121G 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Likely benign 10.23 77990 chr19 1468330 1468330 G C rs541275280 APC2 Nonsynonymous SNV R1676P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.24 77991 chr19 42082639 42082639 T - CEACAM21 S5Qfs*21 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 77992 chr11 3243435 3243435 C T rs117350168 MRGPRG-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 6.101 77993 chr18 5956381 5956381 G A rs61733889 L3MBTL4 Nonsynonymous SNV S481L 0.031 0.036 0.041 11 36 14 0.028 12 1 0 0 0 13.18 77994 chr7 105190530 105190530 T C rs140651827 RINT1 Star tloss M1? 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 11.86 77995 chr7 105255132 105255132 G A ATXN7L1 Nonsynonymous SNV S426L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 77996 chr19 51856469 51856469 G A rs147353781 ETFB Nonsynonymous SNV R189C 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 77997 chr19 51526473 51526473 G C rs144772689 KLK11 Nonsynonymous SNV H159D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.382 77998 chr19 42880244 42880244 G A rs772954605 MEGF8 Nonsynonymous SNV V2552M 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.2 77999 chr7 107569962 107569962 A G rs35915664 LAMB1 Nonsynonymous SNV I1547T 0.017 0.034 0.01 4 20 13 0.01 3 0 0 0 0 Benign 31 78000 chr19 42911546 42911546 C T rs758545089 LIPE Synonymous SNV Q639Q 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 13.09 78001 chr19 15586393 15586393 T G rs150754767 PGLYRP2 Nonsynonymous SNV Q363P 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 12.59 78002 chr19 15752279 15752279 G C rs774016702 CYP4F3 Synonymous SNV P18P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.401 78003 chr8 10623038 10623038 C T rs779914373 PINX1 Nonsynonymous SNV R287Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 78004 chr7 107720186 107720186 C A rs149878640 LAMB4 Stop gain G583X 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 32 78005 chr19 4357309 4357309 A G rs61730128 MPND Synonymous SNV P302P 0.02 0.026 0.01 2 23 10 0.005 3 0 0 0 0 14.45 78006 chr8 10756194 10756194 G A XKR6 Synonymous SNV A398A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.117 78007 chr8 11301733 11301733 G A rs147319341 FAM167A Nonsynonymous SNV P63L 0.03 0.018 0.044 11 35 7 0.028 13 1 0 1 0 11.92 78008 chr8 11831571 11831571 C G rs761263322 DEFB136 Nonsynonymous SNV A38P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 78009 chr19 15540570 15540570 C T rs760541354 WIZ Nonsynonymous SNV G160D 0.005 0.008 0 0 6 3 0 0 0 0 0 0 9.174 78010 chr8 12594604 12594604 A T rs931916254 LONRF1 Nonsynonymous SNV L387I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 78011 chr11 35454060 35454060 C T rs370631386 PAMR1 Synonymous SNV A558A 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 8.374 78012 chr11 35473473 35473473 C T rs117100524 PAMR1 Synonymous SNV G278G 0.007 0.005 0.01 4 8 2 0.01 3 0 0 0 0 12.29 78013 chr19 15582743 15582743 C A rs139692091 PGLYRP2 Nonsynonymous SNV R434L 0.005 0.008 0 0 6 3 0 0 0 0 0 0 26.3 78014 chr11 36298670 36298670 A G COMMD9 Synonymous SNV S65S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.605 78015 chr19 4433253 4433253 G A rs45597332 CHAF1A Nonsynonymous SNV R797Q 0.014 0.018 0.01 2 16 7 0.005 3 0 0 0 0 13.89 78016 chr19 4433412 4433412 A G rs8100525 CHAF1A Nonsynonymous SNV K850R 0.016 0.021 0.014 2 19 8 0.005 4 0 0 0 0 0.004 78017 chr18 65179022 65179022 G A rs118048833 DSEL Nonsynonymous SNV P942S 0.019 0.013 0.034 4 22 5 0.01 10 0 0 0 0 Benign 10.12 78018 chr18 6890538 6890538 G T rs74414891 ARHGAP28 Nonsynonymous SNV R456L 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 32 78019 chr19 52034601 52034601 G A rs62113285 SIGLEC6 Synonymous SNV D44D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.136 78020 chr8 17401161 17401161 G C rs145975234 SLC7A2 Nonsynonymous SNV V105L 0.01 0.016 0.003 1 12 6 0.003 1 0 0 0 0 25.1 78021 chr19 17100550 17100550 A T rs61744414 CPAMD8 Nonsynonymous SNV V433E 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 22.3 78022 chr19 5265092 5265092 C T rs200853371 PTPRS Synonymous SNV E165E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.87 78023 chr19 52887603 52887603 G A rs78052167 ZNF880 Nonsynonymous SNV R257Q 0.008 0.021 0.02 9 9 8 0.023 6 0 1 0 0 0.735 78024 chr19 17213319 17213319 C T rs779920407 MYO9B Synonymous SNV Y264Y 0.005 0 0 4 6 0 0.01 0 0 0 0 0 8.909 78025 chr19 16625375 16625375 G A rs34208111 C19orf44 Synonymous SNV T569T 0.017 0.018 0.007 7 20 7 0.018 2 0 0 0 0 16.84 78026 chr19 52888076 52888076 - TGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ZNF880 Stop gain K415_R577delinsMRSGDRDHPG 0.029 0.044 0.01 8 34 17 0.021 3 0 0 0 0 78027 chr19 44570917 44570917 A C rs143104475 ZNF223 Synonymous SNV G312G 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 0.183 78028 chr19 16987338 16987338 C T rs117647779 SIN3B Synonymous SNV I526I 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 19.85 78029 chr11 4621842 4621842 T G rs375151620 TRIM68 Synonymous SNV V151V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.065 78030 chr18 76829437 76829437 G T rs116790577 ATP9B Synonymous SNV P9P 0.009 0.003 0.003 7 10 1 0.018 1 0 0 0 0 8.789 78031 chr18 76856504 76856504 T C rs114036895 ATP9B Synonymous SNV L50L 0.009 0.008 0.007 7 10 3 0.018 2 0 0 0 0 5.332 78032 chr7 128587407 128587407 C T rs367880963 IRF5 Nonsynonymous SNV P186L 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 13.49 78033 chr18 77063668 77063668 C T rs142685265 ATP9B Synonymous SNV A492A 0.009 0.008 0.007 7 10 3 0.018 2 0 0 0 0 11.29 78034 chr11 46407680 46407680 C T rs756211061 CHRM4 Nonsynonymous SNV R143Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 78035 chr19 44660660 44660660 A T rs779895567 ZNF234 Nonsynonymous SNV D164V 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 22.6 78036 chr8 20107245 20107245 G A rs767201503 LZTS1 Synonymous SNV A593A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.268 78037 chr11 47200766 47200766 G A rs150148866 PACSIN3 Nonsynonymous SNV R282C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 78038 chr8 22079213 22079213 G C PHYHIP Nonsynonymous SNV P216A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 78039 chr19 53573417 53573417 G C rs113127122 ZNF160 Nonsynonymous SNV P124A 0.022 0.013 0.041 7 26 5 0.018 12 0 0 0 0 0.001 78040 chr11 47422504 47422581 CTGAAGGGCAGAAGGGAACTGTCCTTCAGCCAGAGCTGGCTGAAGGGCAGAAGGGAACTGTCCTTCAGCCAGAGCTGG - MIR4487 0 0 0.153 0 0 0 0 45 0 0 0 0 78041 chr11 48142777 48142777 A G rs61737868 PTPRJ Nonsynonymous SNV N192S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.005 78042 chr19 18119868 18119868 C A ARRDC2 Synonymous SNV R139R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 20.5 78043 chr19 54395034 54395034 C T rs767199674 PRKCG Synonymous SNV T212T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.07 78044 chr19 10229580 10229580 T C rs34658893 EIF3G Synonymous SNV T68T 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 0.49 78045 chr7 137374693 137374693 G A rs61757580 DGKI Nonsynonymous SNV L153F 0.014 0.013 0.017 4 16 5 0.01 5 0 0 0 0 14.82 78046 chr7 137593139 137593139 A G rs60325918 CREB3L2 Synonymous SNV S146S 0.015 0.013 0.014 8 18 5 0.021 4 0 0 0 0 10.12 78047 chr19 54409650 54409650 G A rs780263973 PRKCG Nonsynonymous SNV R615H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 78048 chr19 54653302 54653302 C T rs34757542 CNOT3 Nonsynonymous SNV P472S 0.008 0.013 0.01 1 9 5 0.003 3 0 0 0 0 22.9 78049 chr19 18547895 18547895 C T ISYNA1 Synonymous SNV S47S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.4 78050 chr19 45381530 45381530 G A rs201037066 NECTIN2 Nonsynonymous SNV V365M 0.004 0.01 0.003 6 5 4 0.015 1 0 0 0 0 21 78051 chr19 549041 549041 C T rs150398893 GZMM Synonymous SNV G117G 0.025 0.018 0.024 5 29 7 0.013 7 0 0 0 0 10.59 78052 chr19 54848310 54848310 A G rs372969745 LILRA4 Nonsynonymous SNV F353L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.01 78053 chr19 18967730 18967730 G A rs146805409 UPF1 Synonymous SNV P634P 0.003 0.003 0.003 1 3 1 0.003 1 1 0 0 0 Benign 6.899 78054 chr19 19120837 19120837 T C rs34540303 SUGP2 Nonsynonymous SNV Q722R 0.01 0.008 0.014 3 12 3 0.008 4 0 0 0 0 0.134 78055 chr19 19135690 19135690 C T rs746526863 SUGP2 Synonymous SNV L489L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.42 78056 chr7 139652457 139652457 G C rs142393188 TBXAS1 Synonymous SNV V186V 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 1.069 78057 chr19 45912750 45912750 G A rs118178942 CD3EAP Synonymous SNV Q510Q 0.018 0.026 0.037 5 21 10 0.013 11 0 1 0 0 1.532 78058 chr19 55450462 55450462 C A rs73055288 NLRP7 Synonymous SNV L575L 0.032 0.039 0.01 13 37 15 0.033 3 0 0 0 1 Likely benign 10.09 78059 chr19 19737992 19737992 G A rs150741448 LPAR2 Synonymous SNV V34V 0.011 0.01 0.01 3 13 4 0.008 3 0 0 0 0 Benign 10.99 78060 chr19 46265281 46265281 C T rs552798256 BHMG1 Nonsynonymous SNV P507S 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 0.001 78061 chr19 1042173 1042173 C T rs1044020461 ABCA7 Nonsynonymous SNV T138M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.119 78062 chr19 46341821 46341821 C T rs34044830 SYMPK Synonymous SNV S380S 0.007 0.008 0.024 0 8 3 0 7 0 0 0 0 13.71 78063 chr8 37555584 37555584 - CGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGCCGA rs541419243 ZNF703 A401_H402insPTHLGGSSCSTCSA 0.01 0.021 0.007 2 12 8 0.005 2 0 1 0 0 78064 chr8 37732087 37732087 G A rs780228490 RAB11FIP1 Nonsynonymous SNV P523L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.75 78065 chr19 55708677 55708677 C A rs145420585 PTPRH Nonsynonymous SNV V422F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 78066 chr19 10664661 10664661 C T rs34495400 KRI1 Nonsynonymous SNV R693Q 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 18.36 78067 chr19 55785881 55785881 G A rs146963187 HSPBP1 Synonymous SNV N221N 0.015 0.023 0.017 9 18 9 0.023 5 0 0 0 1 9.87 78068 chr19 2405465 2405465 G A rs200805747 TMPRSS9 Nonsynonymous SNV R221Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.8 78069 chr19 47876115 47876115 C T rs146506279 DHX34 Nonsynonymous SNV R633W 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 26.8 78070 chr8 42275468 42275468 G A rs116401889 SLC20A2 Synonymous SNV A604A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 12.83 78071 chr19 55995667 55995667 T C rs756069028 ZNF628 Nonsynonymous SNV M1036T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.305 78072 chr19 1466344 1466344 C T rs145292370 APC2 Nonsynonymous SNV P1014L 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Benign 0.054 78073 chr7 148979401 148979401 C A rs3735314 ZNF783 Synonymous SNV P536P 0.039 0.042 0.027 21 46 16 0.054 8 1 0 1 1 8.51 78074 chr19 5604875 5604875 T C rs61748936 SAFB2 Nonsynonymous SNV T457A 0.009 0.003 0.007 4 11 1 0.01 2 0 0 0 0 19.49 78075 chr8 52323908 52323908 A G rs117864200 PXDNL Nonsynonymous SNV I655T 0.044 0.034 0.051 10 52 13 0.026 15 0 2 2 0 0.008 78076 chr8 52325796 52325796 G A rs10504119 PXDNL Synonymous SNV G606G 0.049 0.039 0.058 10 57 15 0.026 17 0 2 2 0 5.962 78077 chr19 11833575 11833575 A G ZNF823 Synonymous SNV P76P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.617 78078 chr19 3179021 3179021 G A rs34728133 S1PR4 Synonymous SNV S77S 0.055 0.057 0.078 26 65 22 0.067 23 4 0 1 1 0.541 78079 chr19 32973133 32973133 C T rs149401300 DPY19L3 Nonsynonymous SNV S713F 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 24.6 78080 chr19 31768632 31768632 C T rs146715477 TSHZ3 Synonymous SNV E689E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.648 78081 chr19 56189918 56189918 G A rs141127387 EPN1 Synonymous SNV P86P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 9.705 78082 chr8 56982383 56982383 A G rs79444047 RPS20 Nonsynonymous SNV S115P 0.008 0 0.007 3 9 0 0.008 2 0 0 0 0 2.69 78083 chr19 49113240 49113240 G A rs562565251 FAM83E Synonymous SNV V217V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.803 78084 chr7 150389594 150389594 G T rs11558054 GIMAP2 Nonsynonymous SNV V74F 0.049 0.021 0.014 18 57 8 0.046 4 1 0 0 0 22.2 78085 chr19 33602718 33602718 C T rs143291688 GPATCH1 Synonymous SNV Y558Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.87 78086 chr19 12874383 12874383 C T rs189241336 HOOK2 Nonsynonymous SNV E655K 0.009 0.01 0.014 6 11 4 0.015 4 0 0 0 0 Likely benign 35 78087 chr19 13320274 13320274 G A rs16050 CACNA1A Synonymous SNV S2127S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 18.54 78088 chr19 13482554 13482554 C T rs41276894 CACNA1A Synonymous SNV T193T 0.009 0.013 0.01 4 10 5 0.01 3 0 0 0 0 Benign 15.71 78089 chr19 49253498 49253498 G A rs148193888 FUT1 Synonymous SNV P347P 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 10.5 78090 chr8 69033204 69033204 G A rs146939492 PREX2 Nonsynonymous SNV R1215Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 78091 chr19 49376584 49376584 G A rs3786734 PPP1R15A Nonsynonymous SNV A32T 0.026 0.047 0.017 18 31 18 0.046 5 0 0 0 0 23.8 78092 chr19 35550669 35550669 G A HPN Nonsynonymous SNV V85I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.842 78093 chr19 35250683 35250683 G C ZNF599 Nonsynonymous SNV C341W 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 78094 chr19 56953272 56953272 G A rs3760850 ZNF667 Synonymous SNV D364D 0.022 0.026 0.034 8 26 10 0.021 10 0 0 1 0 0.007 78095 chr19 14829543 14829543 C T rs79724046 ZNF333 Synonymous SNV H237H 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 14.59 78096 chr19 49674985 49674985 C T rs368950027 TRPM4 Nonsynonymous SNV R54C 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Uncertain significance 34 78097 chr19 15918694 15918694 C G rs61746478 OR10H1 Nonsynonymous SNV E52Q 0.02 0.029 0.024 10 23 11 0.026 7 0 0 0 0 Benign 6.51 78098 chr19 14877820 14877820 G A rs12976493 ADGRE2 Nonsynonymous SNV L153F 0.088 0.065 0.095 30 103 25 0.077 28 50 12 12 14 0.001 78099 chr19 57062072 57062072 T C rs73055329 ZFP28 Synonymous SNV L332L 0.02 0.01 0.034 7 24 4 0.018 10 0 0 0 0 0.625 78100 chr19 57066588 57066588 T G rs144483790 ZFP28 Nonsynonymous SNV S812A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.65 78101 chr8 88363986 88363988 TAT - rs201174674 CNBD1 I374del 0.012 0.013 0.031 4 14 5 0.01 9 0 0 1 0 78102 chr8 90796347 90796347 G A rs199850869 RIPK2 Nonsynonymous SNV V337I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.32 78103 chr8 94746821 94746844 AGGGCGCCTGAAATCTTCCTCCCA - rs745587169 RBM12B W599_P606del 0.001 0 0 0 1 0 0 0 0 0 0 0 78104 chr8 94811906 94811906 C T rs116445698 TMEM67 Nonsynonymous SNV P721S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 78105 chr19 58050006 58050006 T C rs151110967 ZNF549 Nonsynonymous SNV L532P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 78106 chr19 17213063 17213063 C T rs377237168 MYO9B Nonsynonymous SNV A179V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 78107 chr19 15564993 15564993 C T rs201285104 RASAL3 Nonsynonymous SNV R749H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 78108 chr8 97157289 97157289 G A rs765928590 GDF6 Synonymous SNV F290F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 13.22 78109 chr19 36279148 36279148 C A rs765279456 ARHGAP33 Synonymous SNV G1063G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.857 78110 chr19 17729739 17729739 C T rs191793337 UNC13A Synonymous SNV E1435E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 12.92 78111 chr19 17741050 17741050 A G rs60048755 UNC13A Synonymous SNV D1191D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.164 78112 chr19 51359590 51359590 G A KLK3 Synonymous SNV R47R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.604 78113 chr19 16611613 16611613 G T rs143291289 C19orf44 Nonsynonymous SNV A4S 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 4.869 78114 chr11 56380362 56380362 T G rs186713638 OR5M1 Nonsynonymous SNV N206T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.11 78115 chr19 59059729 59059729 G A rs2305120 TRIM28 Synonymous SNV K390K 0.047 0.049 0.037 22 55 19 0.056 11 0 0 0 0 11.48 78116 chr19 746742 746742 C T rs150262285 PALM Synonymous SNV P320P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 10.12 78117 chr19 51875502 51875502 C T rs151190254 NKG7 Nonsynonymous SNV V73M 0.007 0.018 0.003 10 8 7 0.026 1 0 0 0 0 0.563 78118 chr19 757241 757241 G A rs45477999 MISP Nonsynonymous SNV A99T 0.008 0.01 0.01 2 9 4 0.005 3 0 0 0 0 0.006 78119 chr19 51995029 51995029 C T SIGLEC12 Nonsynonymous SNV A434T 0.005 0.013 0 7 6 5 0.018 0 0 0 0 0 8.316 78120 chr19 39056032 39056032 G A rs565965327 RYR1 Nonsynonymous SNV G4348D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 78121 chr19 52115646 52115646 G A rs61736483 SIGLEC5 Synonymous SNV S498S 0.005 0.018 0.017 5 6 7 0.013 5 0 0 0 0 3.341 78122 chr19 17301968 17301968 C T rs75421081 MYO9B Synonymous SNV I917I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.61 78123 chr19 18542996 18542996 G A rs147838337 SSBP4 Nonsynonymous SNV A204T 0.012 0.003 0.01 1 14 1 0.003 3 0 0 0 0 0.145 78124 chr19 39663768 39663768 G A rs35655056 PAK4 Nonsynonymous SNV A139T 0.012 0.008 0.01 5 14 3 0.013 3 0 0 0 0 0.003 78125 chr8 12863841 12863869 CCAGGCAGCCTCATCGCTGACATAGGTAA - rs71207112 TRMT9B P44Vfs*10 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 78126 chr19 17397457 17397462 GTGTGT - rs59660863 ANKLE1 V589_C590del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 78127 chr19 17451981 17451981 G A rs3745193 GTPBP3 Nonsynonymous SNV R400H 0.014 0.023 0.017 8 17 9 0.021 5 0 0 0 0 Benign 24.4 78128 chr11 56805235 56805235 C G rs71482300 OR5AK4P 0 0 0.031 0 0 0 0 9 0 0 0 0 17.81 78129 chr8 124266351 124266351 G A rs766855693 ZHX1 Synonymous SNV I612I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.74 78130 chr19 17638141 17638141 G A rs73504235 NIBAN3 Nonsynonymous SNV D29N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 78131 chr19 17643125 17643125 C T rs73504248 NIBAN3 Synonymous SNV H80H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.996 78132 chr19 38870027 38870027 C T rs11541757 PSMD8 Synonymous SNV H228H 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 13.13 78133 chr19 38899499 38899499 C T rs200637370 FAM98C Nonsynonymous SNV R261C 0.003 0 0 0 3 0 0 0 0 0 0 0 27 78134 chr8 125076719 125076719 C G FER1L6 Nonsynonymous SNV P1154A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 78135 chr19 18121154 18121154 G A rs17852059 ARRDC2 Synonymous SNV P328P 0.055 0.052 0.075 20 64 20 0.051 22 2 1 2 1 13.51 78136 chr19 18121466 18121466 C T rs8100681 ARRDC2 Synonymous SNV D361D 0.055 0.055 0.075 20 65 21 0.051 22 2 1 2 1 2.686 78137 chr19 39092142 39092142 C T rs35423612 MAP4K1 Synonymous SNV L490L 0.024 0.016 0.017 3 28 6 0.008 5 0 0 0 0 13.06 78138 chr19 22256303 22256303 T C rs140340371 ZNF257 Nonsynonymous SNV C55R 0.01 0.008 0.003 3 12 3 0.008 1 0 0 0 0 11.85 78139 chr8 17815218 17815218 G T rs762829598 PCM1 Nonsynonymous SNV K658N 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 28.6 78140 chr19 39788913 39788913 C T rs147395671 IFNL1 Nonsynonymous SNV R152W 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 23.5 78141 chr19 3982895 3982895 G A rs555068664 EEF2 Synonymous SNV L174L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.19 78142 chr19 18288093 18288093 C T rs150456866 IFI30 Synonymous SNV T209T 0.004 0.003 0.014 3 5 1 0.008 4 0 0 0 0 12.13 78143 chr8 133184914 133184914 G C rs17575754 KCNQ3 Synonymous SNV L237L 0.051 0.036 0.024 24 60 14 0.062 7 2 0 0 0 Benign 8.439 78144 chr8 133192449 133192449 A G rs41272387 KCNQ3 Synonymous SNV G124G 0.051 0.036 0.024 24 60 14 0.062 7 2 0 0 0 Benign 12 78145 chr8 133192521 133192521 A G rs41272389 KCNQ3 Synonymous SNV N100N 0.051 0.036 0.024 24 60 14 0.062 7 2 0 0 0 Benign 1.223 78146 chr19 41928655 41928655 C T rs55940366 BCKDHA Synonymous SNV L325L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 13.73 78147 chr19 8201339 8201339 G A FBN3 Synonymous SNV P426P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.084 78148 chr19 8381489 8381489 T G rs12986323 NDUFA7 Nonsynonymous SNV K48Q 0.016 0.018 0.014 6 19 7 0.015 4 1 0 0 0 22.3 78149 chr19 1912163 1912163 G A rs199915192 ADAT3 Synonymous SNV P23P 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Benign 5.408 78150 chr19 42479929 42479929 G C ATP1A3 Synonymous SNV T716T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 78151 chr19 19656793 19656793 C T CILP2 Nonsynonymous SNV L1147F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.485 78152 chr19 42729966 42729966 C T rs755236626 ZNF526 Nonsynonymous SNV R471C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 78153 chr19 41086309 41086309 G C rs11555272 SHKBP1 Synonymous SNV R160R 0.028 0.031 0.031 5 33 12 0.013 9 0 0 0 0 4.234 78154 chr19 20044582 20044582 C A rs139974656 ZNF93 Nonsynonymous SNV T273N 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 4.675 78155 chr19 41089390 41089390 G C rs890935 SHKBP1 Synonymous SNV V349V 0.016 0.023 0.017 7 19 9 0.018 5 0 0 0 0 13.59 78156 chr19 4312042 4312042 C G rs35139245 FSD1 Nonsynonymous SNV L232V 0.03 0.016 0.034 12 35 6 0.031 10 1 0 1 0 12.44 78157 chr19 4323571 4323571 C T rs1046580 FSD1 Synonymous SNV V474V 0.029 0.016 0.034 10 34 6 0.026 10 1 0 1 0 13.01 78158 chr19 5455994 5455994 C T rs201961416 ZNRF4 Synonymous SNV Y164Y 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 8.842 78159 chr19 2230476 2230476 T C rs750789955 PLEKHJ1 Nonsynonymous SNV M174V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.776 78160 chr8 144103125 144103125 C T rs11547126 LY6E Synonymous SNV G105G 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 Benign 11.97 78161 chr11 60890408 60890408 G A rs117646548 CD5 Nonsynonymous SNV A320T 0.02 0.016 0.017 6 23 6 0.015 5 0 0 0 0 19.85 78162 chr19 54973653 54973653 C T rs35752413 LENG9 Nonsynonymous SNV E375K 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 25.5 78163 chr19 3543597 3543597 G A rs201749907 C19orf71 Nonsynonymous SNV V123I 0.008 0.003 0.007 3 9 1 0.008 2 0 0 0 0 0.001 78164 chr19 42721071 42721071 A T rs34087334 DEDD2 Nonsynonymous SNV F30Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 78165 chr19 24115754 24115754 A G rs775580127 ZNF726 Nonsynonymous SNV H279R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.4 78166 chr19 4280266 4280266 C A rs535190570 SHD Nonsynonymous SNV A69D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.01 78167 chr19 2413798 2413798 C T rs150970765 TMPRSS9 Nonsynonymous SNV P418L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 78168 chr19 35719036 35719036 C A rs148108075 FAM187B Nonsynonymous SNV G183V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.94 78169 chr19 932709 932709 C T rs542439289 ARID3A Synonymous SNV H220H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 78170 chr19 35739849 35739849 C - rs368776746 LSR W24Gfs*9 0.002 0.003 0 0 2 1 0 0 0 0 0 0 78171 chr19 9524533 9524533 A T rs146812179 ZNF266 Nonsynonymous SNV D356E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.099 78172 chr11 61897404 61897404 C T rs112218336 INCENP Synonymous SNV T135T 0.019 0.013 0.024 9 22 5 0.023 7 1 0 0 0 Benign 8.34 78173 chr11 62293810 62293810 A G rs755959501 AHNAK Synonymous SNV P2693P 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 0.099 78174 chr11 62293863 62293863 T C rs767060844 AHNAK Nonsynonymous SNV I2676V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 78175 chr19 36159258 36159258 G A UPK1A-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.028 78176 chr8 144942354 144942354 T C rs113992087 EPPK1 Nonsynonymous SNV I1690V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 78177 chr19 36530562 36530562 T C rs3810450 THAP8 Nonsynonymous SNV K112R 0.02 0.034 0.01 6 23 13 0.015 3 0 0 0 0 0.005 78178 chr19 36530913 36530913 C T rs3810449 THAP8 Nonsynonymous SNV R70H 0.02 0.034 0.007 6 23 13 0.015 2 0 0 0 0 26.7 78179 chr11 624674 624674 C T rs72844723 CDHR5 Synonymous SNV P48P 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 11.12 78180 chr11 62622937 62622937 T C SNHG1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.785 78181 chr19 36594542 36594542 C T rs111294536 WDR62 Nonsynonymous SNV A1271V 0.009 0.018 0 5 10 7 0.013 0 0 0 0 0 Benign/Likely benign 9.939 78182 chr19 44418859 44418859 A G rs200720773 ZNF45 Synonymous SNV T243T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.816 78183 chr19 34263229 34263229 G A rs141411970 CHST8 Nonsynonymous SNV R179H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.807 78184 chr1 109482304 109482304 G A rs36032236 CLCC1 Nonsynonymous SNV A147V 0.052 0.036 0.051 19 61 14 0.049 15 2 0 1 0 0.029 78185 chr11 63884936 63884936 C T FLRT1 Synonymous SNV H399H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 78186 chr19 56127269 56127269 C T rs552114347 ZNF865 Nonsynonymous SNV A762V 0 0.01 0 2 0 4 0.005 0 0 0 0 0 22.9 78187 chr19 56223857 56223857 T C rs767724356 NLRP9 Synonymous SNV E867E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 78188 chr19 56300767 56300767 T G NLRP11 0 0.01 0 1 0 4 0.003 0 0 0 0 0 12.52 78189 chr1 110091447 110091447 G A rs2230350 GNAI3 Synonymous SNV K35K 0.032 0.044 0.024 11 38 17 0.028 7 2 0 0 0 14.91 78190 chr19 35831986 35831986 C T rs25677 CD22 Synonymous SNV C307C 0.014 0.005 0.014 5 16 2 0.013 4 0 0 0 0 10.59 78191 chr19 35835739 35835739 G A rs7259477 CD22 Synonymous SNV P504P 0.005 0.003 0 2 6 1 0.005 0 1 0 0 0 Benign 4.271 78192 chr19 56370051 56370051 C T rs192117499 NLRP4 Nonsynonymous SNV A431V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.08 78193 chr19 56538657 56538657 G A rs200105264 NLRP5 Nonsynonymous SNV R353Q 0.002 0.013 0 3 2 5 0.008 0 0 0 0 0 Likely benign 0.338 78194 chr19 36210742 36210742 C T rs761150250 KMT2B Nonsynonymous SNV R165C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 78195 chr19 38103821 38103821 G C rs760043905 ZNF540 Nonsynonymous SNV G515A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 78196 chr11 64656757 64656757 G A rs7944276 MIR194-2HG 0 0 0.082 0 0 0 0 24 0 0 1 0 4.224 78197 chr19 38229926 38229926 G A rs11666245 ZNF573 Nonsynonymous SNV R401W 0.052 0.063 0.058 14 61 24 0.036 17 2 2 1 0 24.6 78198 chr8 145948440 145948440 T C rs61732715 ZNF251 Nonsynonymous SNV N202S 0.029 0.023 0.02 9 34 9 0.023 6 0 0 0 0 11.28 78199 chr19 46271237 46271237 A G rs4803853 DM1-AS 0.004 0.003 0.017 0 5 1 0 5 0 0 0 0 7.626 78200 chr8 146016869 146016869 T C rs11539893 RPL8 Nonsynonymous SNV I98V 0.033 0.023 0.024 10 39 9 0.026 7 0 0 0 0 7.715 78201 chr1 100343254 100343254 G A rs141043166 AGL Nonsynonymous SNV R494H 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 78202 chr11 65211940 65211940 C A rs550894 MIR612, NEAT1 0 0 0.119 0 0 0 0 35 0 0 2 0 6.837 78203 chr11 65222952 65222952 T C rs1784858 LOC101927789 0 0 0.313 0 0 0 0 92 0 0 14 0 0.545 78204 chr11 65265734 65265734 A C rs369312382 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.735 78205 chr11 65314277 65314277 G C rs148780991 LTBP3 Nonsynonymous SNV A741G 0.019 0.016 0.024 7 22 6 0.018 7 0 0 0 0 Benign 21.4 78206 chr9 214719 214719 C T rs115610637 DOCK8-AS1 0.045 0.047 0.061 23 53 18 0.059 18 3 1 0 1 16.81 78207 chr11 65337251 65337251 A T rs1346 SSSCA1-AS1 0 0 0.194 0 0 0 0 57 0 0 6 0 3.294 78208 chr11 65337714 65337714 G T rs1784220 SSSCA1-AS1 0 0 0.18 0 0 0 0 53 0 0 9 0 8.101 78209 chr11 65337715 65337715 A T rs59286748 SSSCA1-AS1 0 0 0.18 0 0 0 0 53 0 0 9 0 6.515 78210 chr11 65361256 65361256 C T rs149447683 KCNK7 Nonsynonymous SNV V137M 0.013 0.003 0.01 1 15 1 0.003 3 0 0 0 0 8.137 78211 chr1 115229523 115229523 C T rs61738827 AMPD1 Nonsynonymous SNV R104H 0.011 0.021 0.017 2 13 8 0.005 5 0 0 0 0 Benign 23.4 78212 chr9 842051 842051 G A rs376518776 DMRT1 Synonymous SNV P71P 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 11.23 78213 chr11 65386301 65386301 C T rs201927806 PCNX3 Nonsynonymous SNV R490W 0.003 0 0.007 0 3 0 0 2 0 0 0 0 32 78214 chr9 2651880 2651880 A C VLDLR Nonsynonymous SNV N712T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 19.45 78215 chr19 57956015 57956015 G A rs141565267 ZNF749 Nonsynonymous SNV G413D 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 8.512 78216 chr9 4662759 4662759 C T rs368194561 PLPP6 Synonymous SNV G128G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.87 78217 chr19 39972615 39972615 G C TIMM50 Synonymous SNV A67A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.2 78218 chr19 45997992 45997992 T C rs144028452 RTN2 Synonymous SNV Q117Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 1.224 78219 chr19 39993661 39993661 C T rs376905666 DLL3 Nonsynonymous SNV P206S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.23 78220 chr19 58437969 58437969 C T rs535839531 ZNF418 Nonsynonymous SNV R442Q 0 0.005 0 0 0 2 0 0 0 0 0 0 4.695 78221 chr11 6585903 6585903 G A rs778180519 DNHD1 Nonsynonymous SNV R3542Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 78222 chr11 66055692 66055692 T C rs145771379 YIF1A Nonsynonymous SNV S35G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 78223 chr19 40276479 40276479 C T rs547985951 LEUTX Nonsynonymous SNV R71C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.85 78224 chr19 46281386 46281386 G A rs61747614 DMPK Nonsynonymous SNV T136M 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 18.42 78225 chr11 66291263 66291263 C G rs35209408 BBS1 Synonymous SNV S340S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.97 78226 chr19 49121120 49121120 G C rs746975919 RPL18 Synonymous SNV R6R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.909 78227 chr11 66456256 66456256 C T rs150696057 SPTBN2 Synonymous SNV E2033E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.98 78228 chr11 66458981 66458981 T C rs375849761 SPTBN2 Nonsynonymous SNV N1780S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 78229 chr11 66468513 66468513 A T rs141552726 SPTBN2 Synonymous SNV T1019T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.072 78230 chr19 49244660 49244660 G T rs145934248 IZUMO1 Nonsynonymous SNV S164Y 0.005 0 0 0 6 0 0 0 0 0 0 0 16.38 78231 chr19 59073871 59073871 G A rs141474566 MZF1 Synonymous SNV H591H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.014 78232 chr11 66639546 66639546 C T rs45471099 PC Nonsynonymous SNV V29I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.62 78233 chr11 66813252 66813252 G A rs111380394 SYT12 Synonymous SNV R217R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 78234 chr19 4159747 4159747 G A rs140312652 CREB3L3 Nonsynonymous SNV D181N 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.4 78235 chr11 67206247 67206247 A C rs34026289 CORO1B Synonymous SNV S413S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.274 78236 chr11 67225937 67225937 C T rs34573687 CABP4 Synonymous SNV D144D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.11 78237 chr1 12062086 12062086 G A rs749652300 MFN2 Synonymous SNV T362T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.09 78238 chr11 67269440 67269440 C T rs145958022 PITPNM1 Nonsynonymous SNV R178Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 78239 chr19 41826328 41826328 C T CCDC97 Synonymous SNV R223R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.13 78240 chr19 48260425 48260425 G A rs10420202 NOP53-AS1 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 1.324 78241 chr19 38979891 38979891 A G rs35021937 RYR1 Synonymous SNV E1874E 0.009 0.018 0.01 3 11 7 0.008 3 0 0 0 0 Benign/Likely benign 8.493 78242 chr11 6737974 6737974 A G rs72899780 GVINP1 0 0 0.01 0 0 0 0 3 0 0 0 0 11.43 78243 chr1 111734770 111734770 T C rs200122035 DENND2D Nonsynonymous SNV M319V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.91 78244 chr1 12806478 12806478 G T rs186035456 C1orf158 Stop gain E34X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 39 78245 chr19 4199944 4199944 G A rs61743270 ANKRD24 Nonsynonymous SNV A66T 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 6.884 78246 chr11 67810160 67810160 A G rs142855299 TCIRG1 Nonsynonymous SNV K83E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.01 78247 chr11 67814929 67814929 C T rs151180675 TCIRG1 Synonymous SNV L183L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.53 78248 chr11 67814961 67814961 C T rs145080707 TCIRG1 Synonymous SNV H193H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.64 78249 chr9 32542278 32542278 T C rs17857515 TOPORS Nonsynonymous SNV N684D 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 Benign 11.83 78250 chr11 67815012 67815012 A G rs138527421 TCIRG1 Synonymous SNV R210R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.45 78251 chr9 32571008 32571008 C T NDUFB6 Nonsynonymous SNV V75I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.584 78252 chr11 67888384 67888384 C A rs766011568 CHKA Synonymous SNV T87T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 78253 chr19 39694723 39694735 GCTCGGCGCCCCC - SYCN G54Cfs*62 0 0 0 1 0 0 0.003 0 0 0 0 0 78254 chr19 7447702 7447702 C T rs112303059 ARHGEF18 Synonymous SNV N249N 0.032 0.029 0.02 14 37 11 0.036 6 0 0 0 0 10.42 78255 chr19 7516070 7516070 C T rs117706799 ARHGEF18 Synonymous SNV G349G 0.027 0.029 0.014 15 32 11 0.038 4 0 0 0 0 11.67 78256 chr19 48789745 48789745 T G ZNF114 Synonymous SNV A288A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.065 78257 chr19 48807238 48807238 G A rs34628933 CCDC114 Synonymous SNV P238P 0.008 0.003 0.01 1 9 1 0.003 3 0 0 0 0 Benign 5.277 78258 chr19 4891564 4891564 C T rs117229323 ARRDC5 Nonsynonymous SNV E161K 0.015 0.008 0.01 6 18 3 0.015 3 0 0 1 0 8.119 78259 chr11 68377446 68377446 C T rs34009811 PPP6R3 Nonsynonymous SNV A722V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.15 78260 chr9 35044149 35044149 G A C9orf131 Stop gain W473X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 78261 chr19 50028723 50028723 C G rs770697747 FCGRT Nonsynonymous SNV A294G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 78262 chr19 42874946 42874946 C T rs768745459 MEGF8 Synonymous SNV L2300L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.75 78263 chr1 145704167 145704167 C T rs148311134 CD160 Nonsynonymous SNV G84R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 7.28 78264 chr19 4325464 4325472 AGTGGGGGC - STAP2 P302_P304del 0.002 0 0 0 2 0 0 0 0 0 0 0 78265 chr1 147090866 147090866 G A rs142428017 BCL9 Nonsynonymous SNV G302D 0.012 0.018 0.003 4 14 7 0.01 1 0 0 0 0 Likely benign 16.83 78266 chr19 40331327 40331327 G T rs142017132 FBL Synonymous SNV G37G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 10.95 78267 chr8 120977542 120977542 A G rs34068787 DEPTOR Nonsynonymous SNV M65V 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 3.116 78268 chr1 149859119 149859119 C T rs782746255 H2AC21 Synonymous SNV L116L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.31 78269 chr19 40364011 40364011 G A rs78835791 FCGBP Synonymous SNV S4877S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.982 78270 chr1 150470061 150470061 C T rs115720584 TARS2 Nonsynonymous SNV T229M 0.012 0.018 0.031 1 14 7 0.003 9 0 0 0 0 Benign 23.6 78271 chr1 115275331 115275331 T C rs139337371 CSDE1 Nonsynonymous SNV H284R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.46 78272 chr1 115417175 115417175 A G rs61730057 SYCP1 Nonsynonymous SNV N216S 0.019 0.003 0.01 6 22 1 0.015 3 1 0 0 0 12.57 78273 chr19 49474192 49474192 T G GYS1 Synonymous SNV S482S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.87 78274 chr1 151342263 151342263 C T rs41285000 SELENBP1 Nonsynonymous SNV R38H 0.007 0.016 0.017 7 8 6 0.018 5 0 0 0 0 2.854 78275 chr19 44418677 44418677 T C rs993071084 ZNF45 Nonsynonymous SNV Y304C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 21.2 78276 chr1 151542176 151542176 C T rs41310883 TUFT1 Nonsynonymous SNV T150M 0.006 0.021 0.003 2 7 8 0.005 1 0 0 0 0 17.81 78277 chr19 41231268 41231268 G C ITPKC Nonsynonymous SNV K393N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 78278 chr19 51017063 51017063 C T rs77177254 ASPDH Synonymous SNV P6P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 11.72 78279 chr11 73620635 73620635 C T rs140276370 PAAF1 Nonsynonymous SNV P243S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.77 78280 chr19 49930435 49930435 A C rs576974610 GFY Nonsynonymous SNV N250H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.496 78281 chr8 133175736 133175736 T C rs2303995 KCNQ3 Nonsynonymous SNV E294G 0.021 0.01 0.01 1 25 4 0.003 3 0 1 0 0 Benign 22.6 78282 chr19 42265201 42265201 G A rs143159805 CEACAM6 Nonsynonymous SNV V157M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.9 78283 chr9 79891006 79891006 T C rs78048112 VPS13A Nonsynonymous SNV V898A 0.026 0.029 0.034 7 30 11 0.018 10 0 0 0 0 Benign 8.354 78284 chr19 50393269 50393269 A G rs56359967 IL4I1 Synonymous SNV F454F 0.038 0.052 0.027 22 45 20 0.056 8 1 0 0 0 0.014 78285 chr19 4364214 4364214 G A rs111243248 SH3GL1 Synonymous SNV D64D 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 4.161 78286 chr19 50747533 50747533 T C rs61734424 MYH14 Synonymous SNV F375F 0.023 0.029 0.034 10 27 11 0.026 10 0 1 0 0 Benign 0.23 78287 chr19 4409173 4409173 A G rs148067278 CHAF1A Nonsynonymous SNV Q126R 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 0.001 78288 chr19 4409511 4409511 A G rs2230635 CHAF1A Nonsynonymous SNV M239V 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 0.001 78289 chr8 142228566 142228566 T C rs746616554 SLC45A4 Synonymous SNV T340T 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.002 78290 chr19 44352769 44352769 A G rs17712471 ZNF283 Synonymous SNV K533K 0.008 0.01 0.017 5 9 4 0.013 5 0 0 0 0 0.653 78291 chr1 155175089 155175089 C T rs72704117 THBS3 Nonsynonymous SNV R102Q 0.007 0.01 0.014 1 8 4 0.003 4 0 0 0 0 34 78292 chr19 51170978 51170978 C T rs750577 SHANK1 Synonymous SNV P1413P 0.006 0 0.003 3 7 0 0.008 1 0 0 0 1 13.63 78293 chr19 9026312 9026312 G C rs200190822 MUC16 Nonsynonymous SNV A12225G 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 13.27 78294 chr8 143556905 143556905 G A rs375202811 ADGRB1 Synonymous SNV T285T 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 14.84 78295 chr19 45127177 45127177 G A rs772216333 IGSF23 Nonsynonymous SNV R100Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.3 78296 chr19 52870001 52870001 G A rs147107755 ZNF610 Nonsynonymous SNV R414H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.33 78297 chr11 82991264 82991264 C T rs61747435 CCDC90B Nonsynonymous SNV R38Q 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 35 78298 chr19 52888075 52888075 - ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG rs773157264 ZNF880 Stop gain K415Mfs*11 0.01 0.003 0.003 4 12 1 0.01 1 0 0 0 0 78299 chr1 156146546 156146546 C T rs76381440 SEMA4A Nonsynonymous SNV P550S 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 Benign/Likely benign 16.71 78300 chr19 45735036 45735036 G A rs757415310 EXOC3L2 Synonymous SNV C25C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.08 78301 chr9 100124037 100124037 C A rs749871242 CCDC180 Nonsynonymous SNV D1215E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.571 78302 chr8 144659232 144659232 C T rs142581813 NAPRT Synonymous SNV P228P 0.009 0.003 0 0 10 1 0 0 0 0 0 0 16.42 78303 chr11 88245425 88245431 ATGGCCA - rs144972069 GRM5-AS1 0 0 0.194 0 0 0 0 57 0 0 5 0 78304 chr9 100919834 100919834 C T rs61741701 CORO2A Nonsynonymous SNV D37N 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 34 78305 chr11 9116410 9116410 G A rs145100240 KRT8P41 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 78306 chr1 151215011 151215011 A G rs61729862 PIP5K1A Synonymous SNV L496L 0.026 0.026 0.014 12 31 10 0.031 4 1 0 1 0 9.037 78307 chr9 101594103 101594103 G A rs41306504 GALNT12 Nonsynonymous SNV D261N 0.018 0.026 0.027 9 21 10 0.023 8 0 0 0 1 Benign 26.8 78308 chr11 92914858 92914858 G A rs142480448 SLC36A4 Nonsynonymous SNV R17W 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 32 78309 chr1 152083806 152083806 C T rs200947543 TCHH Synonymous SNV R629R 0.02 0.016 0.014 11 23 6 0.028 4 0 0 0 0 Benign 16.57 78310 chr9 104189838 104189838 C T rs752810910 ALDOB Nonsynonymous SNV D156N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.8 78311 chr19 9452705 9452705 G T ZNF559 Nonsynonymous SNV G257V 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 17.21 78312 chr1 156812296 156812296 C T rs138327752 INSRR Nonsynonymous SNV R1044H 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 34 78313 chr19 9490233 9490233 C G rs79356517 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV S64C 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 12.43 78314 chr11 94533286 94533286 A T rs369635219 AMOTL1 Synonymous SNV P260P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.664 78315 chr1 157805650 157805650 A T rs11537583 CD5L Nonsynonymous SNV D117E 0.008 0.01 0.003 0 9 4 0 1 1 0 0 0 0.001 78316 chr19 48197908 48197908 T C BICRA Synonymous SNV P940P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.771 78317 chr19 53116514 53116514 C T rs61747437 ZNF83 Nonsynonymous SNV G435E 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 24.7 78318 chr19 48495301 48495301 C T rs559555937 BSPH1 Nonsynonymous SNV R13Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 11.6 78319 chr1 10714625 10714625 C T rs371844599 CASZ1 Synonymous SNV T563T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.36 78320 chr12 103352171 103352171 - GCAGCAGCA rs3832799 ASCL1 Q62_A63insQQQ 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 78321 chr1 159807753 159807755 TCT - rs754503080 SNHG28 0 0.003 0 0 0 1 0 0 0 0 0 0 78322 chr12 104152943 104152943 C T rs2271638 STAB2 Synonymous SNV L2380L 0.007 0.005 0.017 2 8 2 0.005 5 0 0 0 0 12.29 78323 chr12 104153006 104153006 G T rs2271636 STAB2 Synonymous SNV L2401L 0.007 0.005 0.017 2 8 2 0.005 5 0 0 0 0 6.01 78324 chr9 113530118 113530118 C A MUSK Nonsynonymous SNV N313K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.02 78325 chr19 53644425 53644425 C T rs182795067 ZNF347 Synonymous SNV V553V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 9.82 78326 chr19 47615835 47615835 C T rs62135070 ZC3H4 Nonsynonymous SNV A3T 0.022 0.021 0 9 26 8 0.023 0 2 0 0 0 23.9 78327 chr1 160160675 160160675 G A rs138101305 CASQ1 Nonsynonymous SNV G45D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 78328 chr9 115593132 115593132 A G rs376468745 SNX30 Nonsynonymous SNV N196S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.89 78329 chr19 47844604 47844604 G A rs149300678 C5AR2 Nonsynonymous SNV R183Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.932 78330 chr1 161011607 161011607 A G rs530469528 USF1 Synonymous SNV D102D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.454 78331 chr1 161019000 161019000 T G rs372150791 ARHGAP30 Nonsynonymous SNV N427T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.471 78332 chr1 109823760 109823760 G A rs753029210 PSRC1 Synonymous SNV A211A 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 7.646 78333 chr12 107713087 107713087 C T rs377707357 BTBD11 Synonymous SNV L124L 0.005 0.003 0.017 4 6 1 0.01 5 0 0 0 0 12.05 78334 chr12 10772924 10772924 C T rs756724580 STYK1 Stop gain W363X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 78335 chr12 108686631 108686631 T C rs199548216 CMKLR1 Nonsynonymous SNV R37G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.67 78336 chr19 55593646 55593646 C G rs142793216 EPS8L1 Nonsynonymous SNV R205G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 78337 chr12 108986151 108986151 C T rs75619905 TMEM119 Synonymous SNV S3S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.28 78338 chr12 10959029 10959029 G A rs145097632 TAS2R8 Nonsynonymous SNV T184I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 78339 chr19 55869601 55869601 T C rs74522611 FAM71E2 Nonsynonymous SNV M879V 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 0.001 78340 chr12 109841854 109841854 C G rs61740371 MYO1H Nonsynonymous SNV S257C 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Benign 26 78341 chr1 156642155 156642155 C G rs114406081 NES Nonsynonymous SNV E609Q 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 Benign 14.09 78342 chr19 50170394 50170394 C T rs201494242 BCL2L12 Nonsynonymous SNV R159C 0.005 0.008 0 0 6 3 0 0 0 0 0 0 34 78343 chr19 501876 501876 G A rs200332335 MADCAM1 Nonsynonymous SNV R292H 0.003 0 0 0 3 0 0 0 0 0 0 0 15.28 78344 chr9 2718654 2718654 G A rs7859993 KCNV2 Synonymous SNV V305V 0.02 0.026 0.02 9 24 10 0.023 6 0 0 0 0 Benign/Likely benign 7.36 78345 chr9 2718717 2718717 C T rs7860945 KCNV2 Synonymous SNV D326D 0.019 0.021 0.017 9 22 8 0.023 5 0 0 0 0 Benign/Likely benign 8.771 78346 chr19 55995113 55995113 A G rs138326099 ZNF628 Synonymous SNV V851V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.205 78347 chr1 158300604 158300604 C T rs62642468 CD1B Nonsynonymous SNV G104S 0.023 0.013 0.01 11 27 5 0.028 3 0 0 0 1 Benign 0.066 78348 chr9 123903840 123903840 G A rs17292952 CNTRL Nonsynonymous SNV A337T 0.038 0.055 0.037 4 45 21 0.01 11 2 1 0 0 21.9 78349 chr9 5922432 5922432 C T rs777187474 KIAA2026 Synonymous SNV S1188S 0.007 0.01 0 8 8 4 0.021 0 0 0 0 0 7.061 78350 chr12 112204824 112204826 GCC - rs764941692 ALDH2 R15del 0 0 0.003 0 0 0 0 1 0 0 0 0 78351 chr1 168195335 168195335 G C rs148619520 SFT2D2 Nonsynonymous SNV K6N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.78 78352 chr1 158450453 158450453 - T OR10R2 Frameshift insertion S263Ffs*49 0.001 0 0 4 1 0 0.01 0 0 0 0 0 78353 chr1 115164679 115164679 G A DENND2C Nonsynonymous SNV P355L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 18.38 78354 chr19 49573992 49573992 G A rs201357578 KCNA7 Synonymous SNV S233S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.318 78355 chr9 15188102 15188102 G T TTC39B Stop gain S352X 0 0.005 0 2 0 2 0.005 0 0 0 0 0 38 78356 chr1 11771999 11771999 G A rs143337024 DRAXIN Nonsynonymous SNV G245D 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 3.578 78357 chr12 117348968 117348968 C A rs112339051 FBXW8 Synonymous SNV G42G 0.014 0.023 0.044 4 16 9 0.01 13 1 2 0 0 8.71 78358 chr1 118166459 118166459 G C TENT5C Synonymous SNV G323G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.425 78359 chr19 50154408 50154408 C T rs12976076 SCAF1 Synonymous SNV T254T 0.022 0.023 0.037 7 26 9 0.018 11 0 0 0 0 8.064 78360 chr9 19786217 19786217 G A rs1536517 SLC24A2 Synonymous SNV I216I 0.008 0.016 0.017 3 9 6 0.008 5 0 0 1 0 8.42 78361 chr19 50412309 50412309 C G rs1290749 NUP62 Synonymous SNV G252G 0.009 0.013 0 5 11 5 0.013 0 0 0 0 0 2.182 78362 chr12 120313950 120313950 G A rs143030033 CIT Nonsynonymous SNV A8V 0.001 0 0.014 0 1 0 0 4 0 0 0 0 16.37 78363 chr19 50412650 50412650 C T rs3745489 NUP62 Nonsynonymous SNV G139S 0.009 0.013 0.003 5 11 5 0.013 1 0 0 0 0 25.1 78364 chr9 127101941 127101941 C T rs200895433 NEK6 Synonymous SNV Y256Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.999 78365 chr9 22447650 22447650 C A rs755594201 DMRTA1 Nonsynonymous SNV L196M 0 0.003 0 0 0 1 0 0 0 0 0 0 19.49 78366 chr19 56369914 56369914 C T rs113444208 NLRP4 Synonymous SNV A385A 0.014 0.005 0.01 5 16 2 0.013 3 0 0 0 0 13.84 78367 chr19 50951640 50951640 G A rs34051416 MYBPC2 Nonsynonymous SNV V489I 0.031 0.021 0.01 8 36 8 0.021 3 1 0 0 0 0.015 78368 chr19 5720074 5720074 G C rs11551011 LONP1 Nonsynonymous SNV L24V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 8.458 78369 chr1 12183372 12183372 G A rs11569904 TNFRSF8 Synonymous SNV A215A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.524 78370 chr19 50967735 50967735 C T rs113141947 MYBPC2 Nonsynonymous SNV R1121W 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 32 78371 chr1 161335997 161335997 G C rs755508651 CFAP126 Synonymous SNV P54P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 10.53 78372 chr9 32635539 32635539 A G rs776741366 TAF1L Synonymous SNV A13A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.378 78373 chr19 5733874 5733874 T C rs73544757 CATSPERD Nonsynonymous SNV V95A 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 0.009 78374 chr19 5733908 5733908 G C rs73544759 CATSPERD Synonymous SNV S106S 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 3.04 78375 chr19 5744499 5744499 T C rs57680462 CATSPERD Nonsynonymous SNV M212T 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 10.11 78376 chr12 12240299 12240299 G A rs17819796 BCL2L14 Nonsynonymous SNV V196I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 78377 chr12 122481817 122481817 C T rs528911935 BCL7A Synonymous SNV I99I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 78378 chr1 16255799 16255799 G A rs115566585 SPEN Nonsynonymous SNV V1022M 0.014 0.01 0.01 2 16 4 0.005 3 0 0 0 0 0.002 78379 chr9 130698884 130698884 G A rs779110103 DPM2 Synonymous SNV A48A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.03 78380 chr19 5696339 5696339 G A rs145519500 LONP1 Nonsynonymous SNV A410V 0.005 0 0 3 6 0 0.008 0 0 0 0 0 26.3 78381 chr12 123060435 123060435 A G rs767486222 KNTC1 Nonsynonymous SNV K859E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 78382 chr1 16261631 16261631 C G SPEN Nonsynonymous SNV L2966V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 78383 chr19 57133012 57133012 - C rs781168570 ZNF71 Frameshift insertion M122Hfs*19 0.003 0 0.003 0 3 0 0 1 0 0 0 0 78384 chr9 130915393 130915393 G A rs748201464 LCN2 Nonsynonymous SNV G198S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 78385 chr19 51483620 51483620 G C rs35354640 KLK7 Synonymous SNV L43L 0.029 0.026 0.01 12 34 10 0.031 3 0 0 0 1 7.236 78386 chr9 35674235 35674235 G A CA9 Synonymous SNV E93E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.199 78387 chr9 131218456 131218456 G T rs561709881 ODF2 Nonsynonymous SNV R29L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.1 78388 chr1 176664886 176664886 C T rs138677844 PAPPA2 Synonymous SNV S879S 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Benign 8.049 78389 chr19 5783712 5783712 C T rs2446211 PRR22 Synonymous SNV P182P 0.02 0.016 0.136 11 23 6 0.028 40 6 2 6 5 8.1 78390 chr12 124401027 124401027 C A rs61745785 DNAH10 Nonsynonymous SNV D3464E 0.022 0.016 0.017 1 26 6 0.003 5 0 0 0 0 27.4 78391 chr19 52399810 52399810 G A rs138019190 ZNF649 Synonymous SNV A51A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.561 78392 chr19 51845070 51845070 A T rs141732375 VSIG10L Nonsynonymous SNV S78T 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 10.31 78393 chr19 52579317 52579317 C T rs28706645 ZNF841 Nonsynonymous SNV C84Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 78394 chr9 131591033 131591033 C T rs151128931 SPOUT1 Synonymous SNV A63A 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 Benign 11.68 78395 chr19 51850304 51850304 G A rs144640661 ETFB Synonymous SNV F240F 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 13.61 78396 chr19 52660398 52660400 GTG - rs145104830 ZNF836 P179del 0.002 0 0 0 2 0 0 0 0 0 0 0 78397 chr19 52869285 52869285 C T rs61740369 ZNF610 Synonymous SNV S175S 0.003 0 0 0 4 0 0 0 0 0 0 0 7.673 78398 chr19 52887131 52887131 G A rs115277571 ZNF880 Nonsynonymous SNV G100R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.291 78399 chr1 167829091 167829091 T C rs199992108 ADCY10 Nonsynonymous SNV K464R 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 0.001 78400 chr19 58059021 58059021 A G rs764993638 ZNF550 Synonymous SNV H197H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.896 78401 chr19 5867296 5867296 C A rs776960193 FUT5 Nonsynonymous SNV W147C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.4 78402 chr19 58268268 58268268 T - ZNF776 L93Rfs*36 0.003 0 0 0 3 0 0 0 0 0 0 0 78403 chr19 52938451 52938451 G A rs116742184 ZNF534 Nonsynonymous SNV G59D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.042 78404 chr12 13154123 13154123 G C rs61912779 HTR7P1 0 0 0.289 0 0 0 0 85 0 0 30 0 6.829 78405 chr19 5222845 5222845 C T rs199734331 PTPRS Synonymous SNV A964A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.04 78406 chr1 151140732 151140732 G A rs1115 SCNM1, TNFAIP8L2-SCNM1 Nonsynonymous SNV E136K 0.018 0.029 0.003 7 21 11 0.018 1 0 0 0 0 12.13 78407 chr1 151143016 151143016 T C rs143662204 TMOD4 Nonsynonymous SNV M332V 0.018 0.029 0.003 7 21 11 0.018 1 0 0 0 0 13.84 78408 chr9 79007440 79007440 G A rs149077765 RFK Nonsynonymous SNV S43F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.7 78409 chr1 169825081 169825081 C T rs140724273 SCYL3 Nonsynonymous SNV V444I 0.008 0.018 0.01 2 9 7 0.005 3 0 0 1 0 6.375 78410 chr1 169847844 169847844 T C rs55638185 SCYL3 Synonymous SNV T94T 0.013 0.018 0.01 4 15 7 0.01 3 0 0 0 0 0.947 78411 chr1 170136672 170136672 G A rs78678262 METTL11B Nonsynonymous SNV R209Q 0.012 0.01 0.017 5 14 4 0.013 5 0 0 0 0 23 78412 chr1 170136814 170136814 G A rs61745741 METTL11B Synonymous SNV V256V 0.012 0.01 0.017 5 14 4 0.013 5 0 0 0 0 11.71 78413 chr19 58966841 58966841 A G rs753478474 ZNF324B Nonsynonymous SNV K177R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.019 78414 chr19 59009949 59009949 G C rs145618122 SLC27A5 Nonsynonymous SNV A585G 0.012 0.003 0.02 1 14 1 0.003 6 1 0 0 0 Benign/Likely benign 11.73 78415 chr12 132863015 132863015 G C rs74957274 GALNT9 Synonymous SNV G80G 0.023 0.021 0.02 8 27 8 0.021 6 0 1 0 0 11.51 78416 chr19 53410321 53410321 C T rs117340188 ZNF888 Synonymous SNV T418T 0.029 0.018 0.01 4 34 7 0.01 3 0 0 0 0 0.315 78417 chr9 135553706 135553706 G A rs146657712 GTF3C4 Nonsynonymous SNV G234R 0.008 0.003 0.014 3 9 1 0.008 4 0 0 0 0 6.808 78418 chr1 152944374 152944374 C G SPRR4 Nonsynonymous SNV S3C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.59 78419 chr1 1861581 1861581 C A rs141833643 CFAP74 Nonsynonymous SNV G1069V 0.007 0.01 0.01 2 8 4 0.005 3 0 0 0 0 25.3 78420 chr19 6710713 6710713 G A rs202078483 C3 Synonymous SNV S541S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.457 78421 chr12 13529302 13529302 C T rs184405171 LINC01559 0 0 0.003 0 0 0 0 1 0 0 0 0 9.813 78422 chr9 136260884 136260884 C T rs782470218 STKLD1 Nonsynonymous SNV T287M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 24.4 78423 chr19 53741219 53741219 C T rs10425706 ZNF677 Nonsynonymous SNV G254E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.141 78424 chr19 53761980 53761980 G C rs139933646 VN1R2 Nonsynonymous SNV G118R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 78425 chr1 153751312 153751312 G A rs141752584 SLC27A3 Nonsynonymous SNV D533N 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 34 78426 chr19 53770539 53770539 A G rs144630471 VN1R4 Nonsynonymous SNV V127A 0.003 0 0 0 3 0 0 0 0 0 0 0 3.192 78427 chr19 6901923 6901923 G T rs2228533 ADGRE1 Nonsynonymous SNV E132D 0.019 0.018 0.007 3 22 7 0.008 2 0 0 0 0 0.038 78428 chr19 53770746 53770746 C A rs140031028 VN1R4 Nonsynonymous SNV R58L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 1.472 78429 chr19 53770846 53770846 C G rs112743505 VN1R4 Nonsynonymous SNV V25L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.002 78430 chr19 53793430 53793430 G A rs61744061 BIRC8 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 78431 chr1 15438825 15438825 - TG TMEM51-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 78432 chr1 175087815 175087815 C T rs116355400 TNN Synonymous SNV N835N 0.019 0.021 0.02 9 22 8 0.023 6 0 0 0 0 5.859 78433 chr1 175097769 175097769 G A rs150465850 TNN Nonsynonymous SNV V1073I 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 19.48 78434 chr12 15035961 15035961 T G rs145210821 MGP Nonsynonymous SNV N39H 0 0 0.017 0 0 0 0 5 0 0 0 0 Benign/Likely benign 2.391 78435 chr19 7527198 7527198 T A rs769942770 ARHGEF18 Synonymous SNV I629I 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 15.18 78436 chr19 53573365 53573365 A G rs778229656 ZNF160 Nonsynonymous SNV F141S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 78437 chr12 18656297 18656297 T C rs773323061 PIK3C2G Synonymous SNV N992N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 78438 chr9 138418292 138418292 G A rs766115848 LCN1 Nonsynonymous SNV G211S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 2.326 78439 chr9 96021423 96021423 C T rs45534637 WNK2 Nonsynonymous SNV P865S 0.022 0.029 0.014 2 26 11 0.005 4 0 1 0 0 0.001 78440 chr19 7670143 7670143 C T CAMSAP3 Synonymous SNV F60F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.546 78441 chr1 155823355 155823355 T C rs375536483 GON4L Nonsynonymous SNV M73V 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 0.001 78442 chr19 7927160 7927160 G T rs202010597 EVI5L Synonymous SNV T588T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 12.43 78443 chr9 97062852 97062852 A T rs61154129 ZNF169 Nonsynonymous SNV R147W 0.007 0.005 0.014 1 8 2 0.003 4 0 0 0 0 24.1 78444 chr19 7965585 7965585 G A rs112412512 LRRC8E Synonymous SNV T597T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 3.682 78445 chr19 54848696 54848696 A G rs112530542 LILRA4 Synonymous SNV S309S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.098 78446 chr19 814981 814981 G A rs139402334 PLPPR3 Synonymous SNV P168P 0.006 0 0 0 7 0 0 0 0 0 0 0 9.073 78447 chr1 200587546 200587546 C A KIF14 Nonsynonymous SNV L102F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.73 78448 chr19 55560106 55560106 G A rs375117503 RDH13 Synonymous SNV I122I 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 10.55 78449 chr12 31600503 31600503 T C rs34129725 DENND5B Nonsynonymous SNV I610M 0.009 0.013 0.02 7 10 5 0.018 6 0 0 0 0 6.843 78450 chr9 101816858 101816858 G C rs140851301 COL15A1 Nonsynonymous SNV G984A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.4 78451 chr9 103090108 103090108 A G rs779726498 TEX10 Synonymous SNV L591L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.35 78452 chr1 156897375 156897375 C T rs145704101 LRRC71 Synonymous SNV C250C 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 13.86 78453 chr19 8923892 8923892 C T rs150629238 ZNF558 Nonsynonymous SNV R14H 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 13.17 78454 chr19 886031 886031 C T MED16 Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 78455 chr1 158368356 158368356 A G rs115782542 OR10T2 Synonymous SNV L301L 0.004 0.01 0.007 5 5 4 0.013 2 0 0 0 0 1.995 78456 chr12 368928 368928 T C rs148217969 SLC6A13 Synonymous SNV P97P 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 1.414 78457 chr1 186280235 186280235 G A rs150072104 PRG4 Nonsynonymous SNV G1056D 0.001 0 0 6 1 0 0.015 0 0 0 0 0 Uncertain significance 22.9 78458 chr19 55995196 55995196 G T rs371303410 ZNF628 Nonsynonymous SNV G879V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 9.375 78459 chr9 140317999 140317999 C G rs112864733 NOXA1 Nonsynonymous SNV D6E 0.076 0.055 0.027 18 89 21 0.046 8 11 1 0 0 15.79 78460 chr12 46121662 46121662 T A rs888559 LINC00938 0 0 0.027 0 0 0 0 8 0 0 4 0 12.09 78461 chr9 140323766 140323766 C T rs61742952 NOXA1 Synonymous SNV G181G 0.013 0.003 0.003 1 15 1 0.003 1 0 0 0 0 11.64 78462 chr12 46320421 46320421 G A rs74660698 SCAF11 Synonymous SNV P1021P 0.013 0.005 0.02 8 15 2 0.021 6 0 0 0 0 0.845 78463 chr9 140328440 140328440 C T rs78368699 NOXA1 Synonymous SNV L345L 0.013 0.003 0.003 1 15 1 0.003 1 0 0 0 0 8.045 78464 chr12 46321160 46321160 T C rs747348299 SCAF11 Nonsynonymous SNV E775G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 78465 chr1 19478237 19478237 G A rs140839750 UBR4 Synonymous SNV F2371F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 78466 chr1 196697588 196697588 A G CFH Synonymous SNV G783G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.081 78467 chr19 56249720 56249720 C T rs764283824 NLRP9 Synonymous SNV S7S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 12.39 78468 chr1 204380403 204380403 C T PPP1R15B Nonsynonymous SNV G46E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 78469 chr19 56055578 56055578 G A rs35471514 SBK3 Nonsynonymous SNV A96V 0.011 0.01 0.007 2 13 4 0.005 2 0 0 0 0 19.02 78470 chr9 114090629 114090629 C T rs73531578 OR2K2 Nonsynonymous SNV V29I 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 10.42 78471 chr10 1245949 1245949 G C ADARB2 Synonymous SNV G607G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 78472 chr1 200965378 200965378 G A rs80251189 KIF21B Synonymous SNV Y741Y 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 6.749 78473 chr9 114508525 114508525 C T rs77078438 SHOC1 Synonymous SNV P253P 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 11.64 78474 chr10 3214934 3214934 A T rs774266879 PITRM1 Nonsynonymous SNV C11S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.001 78475 chr1 160459989 160459989 G A rs41266905 SLAMF6 Synonymous SNV P154P 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 0.56 78476 chr12 49061511 49061511 T C rs17238800 KANSL2 Nonsynonymous SNV N313S 0.022 0.018 0.014 12 26 7 0.031 4 0 1 0 0 15.27 78477 chr19 9071562 9071562 C T rs116866749 MUC16 Nonsynonymous SNV G5295E 0.037 0.031 0.027 8 43 12 0.021 8 1 0 0 0 0.62 78478 chr19 9073699 9073699 T C rs763118600 MUC16 Nonsynonymous SNV I4583V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 78479 chr12 49491834 49491834 T C rs773131114 LMBR1L Nonsynonymous SNV N374S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 78480 chr19 57088558 57088558 A G rs3752179 ZNF470 Nonsynonymous SNV K254R 0.014 0.016 0.017 7 16 6 0.018 5 0 0 0 0 23.2 78481 chr1 208391098 208391098 T C rs11119014 PLXNA2 Nonsynonymous SNV Q57R 0.043 0.044 0.024 24 50 17 0.062 7 0 1 1 2 0.001 78482 chr12 51207822 51207822 T C rs918458746 ATF1 Synonymous SNV L120L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.384 78483 chr19 57333060 57333060 C T rs142391687 PEG3, ZIM2 Nonsynonymous SNV E210K 0.004 0.003 0.01 1 5 1 0.003 3 0 0 1 0 Benign 23 78484 chr1 165378836 165378836 C G RXRG Synonymous SNV R212R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 14.34 78485 chr12 5153573 5153573 G A rs71537801 KCNA5 Nonsynonymous SNV R87Q 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 1 Uncertain significance 0.02 78486 chr19 9297379 9297379 G A OR7D2 Nonsynonymous SNV A308T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.694 78487 chr9 118950129 118950129 C T rs138173573 PAPPA Nonsynonymous SNV T371M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 78488 chr1 167096982 167096982 A G rs138472448 DUSP27 Nonsynonymous SNV K872E 0.008 0.018 0.007 9 9 7 0.023 2 0 0 0 0 26.7 78489 chr1 202933779 202933779 G C CYB5R1 Nonsynonymous SNV R174G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.4 78490 chr10 13040396 13040396 G A rs759482623 CCDC3 Nonsynonymous SNV S164L 0.004 0 0 0 5 0 0 0 0 0 0 0 33 78491 chr10 13214427 13214427 A G rs17152897 MCM10 Nonsynonymous SNV K134R 0.054 0.063 0.075 36 63 24 0.092 22 1 0 2 2 17.06 78492 chr1 167358837 167358837 A G rs142378150 POU2F1 Nonsynonymous SNV T213A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 21.8 78493 chr9 121929932 121929932 C T rs147029533 BRINP1 Synonymous SNV S572S 0.017 0.021 0.007 5 20 8 0.013 2 0 0 0 0 Benign 11.34 78494 chr19 57867517 57867517 T C rs45619942 ZNF304 Nonsynonymous SNV C94R 0.009 0.003 0.01 4 10 1 0.01 3 0 0 0 0 13.83 78495 chr1 167787479 167787479 T C rs41270737 ADCY10 Nonsynonymous SNV N1285S 0.009 0.023 0.01 7 11 9 0.018 3 0 0 0 0 Benign 0.002 78496 chr19 57839518 57839518 A G rs35270500 ZNF543 Nonsynonymous SNV T230A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 14.73 78497 chr12 52642426 52642426 C T rs145798781 KRT7 Nonsynonymous SNV T431I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.526 78498 chr12 52644412 52644412 A G rs12581578 KRT87P 0 0 0.391 0 0 0 0 115 0 0 44 0 10.22 78499 chr12 52649913 52649913 C T rs533564511 KRT87P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.468 78500 chr19 5789260 5789260 C T rs369425978 DUS3L Synonymous SNV T286T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 15.6 78501 chr19 57931411 57931411 A G rs199697551 ZNF17 Nonsynonymous SNV Q184R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.903 78502 chr1 204192629 204192629 C A PLEKHA6 Nonsynonymous SNV G1039V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 18.1 78503 chr1 204966474 204966474 G A rs183209390 NFASC Nonsynonymous SNV A987T 0.006 0.01 0.014 0 7 4 0 4 0 0 0 0 17.06 78504 chr12 52911016 52911016 A G rs760767549 KRT5 Nonsynonymous SNV Y365H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 78505 chr1 10725188 10725188 C T rs143629495 CASZ1 Nonsynonymous SNV G153R 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 7.679 78506 chr10 17756662 17756662 A T rs144950713 STAM Synonymous SNV G405G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.497 78507 chr12 53045793 53045793 C T rs149447253 KRT2 Nonsynonymous SNV R45H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.4 78508 chr1 205180604 205180604 G C rs373353993 DSTYK Synonymous SNV G20G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 13.53 78509 chr1 205215756 205215756 G A rs909188394 TMCC2 Synonymous SNV Q3Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 78510 chr19 58639623 58639623 C T rs61737261 ZNF329 Synonymous SNV R416R 0.015 0.008 0.014 3 18 3 0.008 4 0 0 0 0 12.61 78511 chr19 5867549 5867549 C G rs141146690 FUT5 Nonsynonymous SNV R63P 0.013 0.016 0.017 1 15 6 0.003 5 0 0 0 0 1.268 78512 chr1 205632534 205632534 C G SLC45A3 Nonsynonymous SNV V129L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 78513 chr1 220356109 220356109 C A RAB3GAP2 Nonsynonymous SNV K721N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 78514 chr1 109801543 109801543 A G rs138543788 CELSR2 Nonsynonymous SNV H1267R 0.008 0.01 0.007 6 9 4 0.015 2 0 0 0 1 Benign 17.18 78515 chr1 109815943 109815943 G T CELSR2 Nonsynonymous SNV A2832S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.81 78516 chr19 58868280 58868280 G A rs780527790 ZNF497 Nonsynonymous SNV T241M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 78517 chr9 127620303 127620303 C T rs757585214 RPL35 Nonsynonymous SNV R89H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.9 78518 chr1 207286409 207286409 A G rs74867186 C4BPA Synonymous SNV R13R 0.02 0.01 0.017 5 24 4 0.013 5 0 0 0 0 Benign 0.004 78519 chr1 110260040 110260040 A G rs113130058 GSTM5 Nonsynonymous SNV S217G 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 Benign 4.908 78520 chr19 58945547 58945547 A G ZNF132 Nonsynonymous SNV W422R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.05 78521 chr19 58966793 58966793 G A rs117311471 ZNF324B Nonsynonymous SNV R161Q 0.003 0 0.014 4 4 0 0.01 4 0 0 0 0 22.8 78522 chr1 11073982 11073982 T C rs61730366 TARDBP Synonymous SNV A66A 0.015 0.008 0.01 13 18 3 0.033 3 0 0 0 0 Benign/Likely benign 9.863 78523 chr12 54801204 54801204 G A rs2280080 LOC102724050 0 0 0.017 0 0 0 0 5 0 0 0 0 5.725 78524 chr10 28822543 28822543 G A rs779598690 WAC Nonsynonymous SNV S12N 0.005 0.005 0 0 6 2 0 0 0 0 0 0 11.22 78525 chr1 11140823 11140823 G A rs115629713 EXOSC10 Synonymous SNV Y528Y 0.034 0.018 0.024 16 40 7 0.041 7 1 0 1 0 6.209 78526 chr1 11184593 11184593 A G rs56051835 MTOR Synonymous SNV L2208L 0.013 0.008 0.014 6 15 3 0.015 4 1 0 0 0 Benign 6.523 78527 chr19 6730335 6730335 C G rs73922477 GPR108 Synonymous SNV R540R 0 0 0 2 0 0 0.005 0 0 0 0 1 16.27 78528 chr1 21031302 21031302 C T KIF17 Nonsynonymous SNV G254D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29.1 78529 chr1 210857116 210857116 C A rs115026899 KCNH1 Nonsynonymous SNV G799V 0.017 0.016 0.044 9 20 6 0.023 13 0 0 0 0 1.312 78530 chr1 212225344 212225344 G A rs61828543 RPL21P28 0.069 0.044 0.034 30 81 17 0.077 10 35 7 5 13 8.2 78531 chr12 56351766 56351766 C T rs375450954 PMEL Nonsynonymous SNV R105H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 78532 chr12 56532010 56532010 G A rs200723565 ESYT1 Nonsynonymous SNV R774H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 78533 chr1 213178473 213178473 T C rs200576994 ANGEL2 Nonsynonymous SNV I177V 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.627 78534 chr1 113243071 113243071 G A rs201257888 MOV10 Nonsynonymous SNV R985Q 0.003 0 0 0 4 0 0 0 0 0 0 0 7.768 78535 chr1 179834060 179834060 T C rs189835019 TOR1AIP2 Synonymous SNV K84K 0.013 0.013 0 3 15 5 0.008 0 0 0 0 0 0.09 78536 chr9 131669718 131669718 C T rs150865438 LRRC8A Nonsynonymous SNV T92M 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 11.93 78537 chr10 43650942 43650942 A G rs41298783 CSGALNACT2 Synonymous SNV Q115Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 2.498 78538 chr1 226570750 226570750 G C rs138576809 PARP1 Synonymous SNV S382S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.201 78539 chr1 114641880 114641880 A G rs147172888 SYT6 Synonymous SNV Y400Y 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.015 78540 chr19 7584329 7584329 C G rs61742775 ZNF358 Synonymous SNV V67V 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 Benign 13.17 78541 chr19 7600857 7600857 G A rs35732838 PNPLA6 Synonymous SNV V61V 0.008 0.01 0.01 1 9 4 0.003 3 0 0 0 0 Benign/Likely benign 8.11 78542 chr19 7676462 7676462 C T rs180741228 CAMSAP3 Nonsynonymous SNV R395W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 78543 chr19 7754175 7754175 C T rs374368888 FCER2 Synonymous SNV P289P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.05 78544 chr1 22828002 22828002 C T rs577900930 ZBTB40 Synonymous SNV F283F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.459 78545 chr1 181767884 181767884 C T rs762766720 CACNA1E Nonsynonymous SNV R2224W 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 34 78546 chr19 8150382 8150382 C T rs151083198 FBN3 Nonsynonymous SNV A2318T 0.006 0 0 2 7 0 0.005 0 0 0 0 0 9.341 78547 chr10 47087710 47087710 G C rs782577388 NPY4R, NPY4R2 Nonsynonymous SNV L309F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.4 78548 chr9 134398452 134398452 C T rs147266709 POMT1 Nonsynonymous SNV R561C 0.012 0.018 0.003 3 14 7 0.008 1 0 0 0 0 Benign/Likely benign 35 78549 chr1 118624238 118624238 C T SPAG17 Nonsynonymous SNV R597Q 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 24.3 78550 chr10 50531137 50531137 A T rs41281949 C10orf71 Nonsynonymous SNV S183C 0.019 0.008 0.014 8 22 3 0.021 4 1 0 0 0 22.8 78551 chr19 8616705 8616705 C T rs201876554 MYO1F Synonymous SNV P230P 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 Likely benign 7.981 78552 chr1 119965180 119965180 C G rs781770416 HSD3B2 Synonymous SNV T352T 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.35 78553 chr12 6715527 6715527 G A rs2267974 CHD4 Synonymous SNV L5L 0.013 0.016 0.01 2 15 6 0.005 3 0 0 0 0 9.843 78554 chr1 228612667 228612667 G A rs777513592 H3-4 Synonymous SNV I120I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.709 78555 chr1 12064941 12064941 G A rs150043585 MFN2 Synonymous SNV T484T 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign/Likely benign 12.45 78556 chr1 186326699 186326699 A T rs201040951 TPR Nonsynonymous SNV D518E 0.01 0.008 0 5 12 3 0.013 0 0 0 0 0 14.78 78557 chr19 8923812 8923812 T G rs61745089 ZNF558 Nonsynonymous SNV T41P 0.014 0.018 0.003 3 17 7 0.008 1 0 0 0 0 0.345 78558 chr1 1223057 1223057 C T rs145322650 SCNN1D Synonymous SNV V468V 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 11.1 78559 chr1 2252826 2252826 C G rs963639641 MORN1 Nonsynonymous SNV R497P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 78560 chr1 231398585 231398585 A T rs34613633 GNPAT Synonymous SNV I124I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.708 78561 chr19 8841588 8841588 C G rs147384704 OR2Z1 Synonymous SNV L66L 0.019 0.031 0.031 3 22 12 0.008 9 0 0 0 0 1.613 78562 chr1 231474294 231474294 A G rs117192083 SPRTN Synonymous SNV Q55Q 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 6.634 78563 chr1 231488952 231488952 A T rs62617126 SPRTN Nonsynonymous SNV T439S 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 Benign 0.023 78564 chr1 1361555 1361555 T C rs1695848 TMEM88B Synonymous SNV G16G 0.054 0.026 0.017 15 63 10 0.038 5 2 0 0 0 0.05 78565 chr12 70956827 70956827 C T rs376975449 PTPRB Nonsynonymous SNV R1014H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 78566 chr12 71898412 71898412 C T rs117980085 LGR5 Synonymous SNV N77N 0.002 0.005 0.01 2 2 2 0.005 3 0 0 0 0 9.371 78567 chr1 1290917 1290917 G C rs200138692 MXRA8 Nonsynonymous SNV Q88E 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 4.783 78568 chr1 19432330 19432330 A C rs143516447 UBR4 Nonsynonymous SNV F4134V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 28.9 78569 chr1 19443732 19443732 G A rs774501186 UBR4 Synonymous SNV I3602I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.27 78570 chr1 1959699 1959699 G A rs41307846 GABRD Nonsynonymous SNV R220H 0.022 0.016 0.02 6 26 6 0.015 6 2 0 0 0 Benign/Likely benign 19.55 78571 chr1 145562356 145562356 A G rs782681626 ANKRD35 Nonsynonymous SNV M592V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 78572 chr1 197069857 197069857 G A rs112946633 ASPM Nonsynonymous SNV R2842W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 26.9 78573 chr1 236389670 236389670 C G ERO1B Synonymous SNV V317V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.81 78574 chr1 200633073 200633073 G T rs147684909 DDX59 Nonsynonymous SNV L316I 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Likely benign 23.9 78575 chr12 81627244 81627244 T C rs148196401 ACSS3 Synonymous SNV I570I 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 10.29 78576 chr1 151089885 151089885 G C rs62621412 GABPB2 Nonsynonymous SNV G236R 0.041 0.023 0.031 4 48 9 0.01 9 0 0 0 0 25 78577 chr1 151259419 151259419 T C rs61744826 ZNF687 Synonymous SNV L218L 0.013 0.005 0.007 2 15 2 0.005 2 0 0 0 0 Benign 0.001 78578 chr1 151261733 151261733 A C rs115912410 ZNF687 Nonsynonymous SNV Q819H 0.013 0.005 0.01 2 15 2 0.005 3 0 0 0 0 Benign 0.991 78579 chr1 23743859 23743859 T C rs192746462 TCEA3 Nonsynonymous SNV E88G 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 19.77 78580 chr1 151377407 151377407 A C rs1571294 POGZ Synonymous SNV T1273T 0.012 0.005 0.014 2 14 2 0.005 4 0 0 0 0 Benign 0.038 78581 chr1 237532846 237532846 G A RYR2 Nonsynonymous SNV G108S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.6 78582 chr19 9067811 9067811 G C rs762532594 MUC16 Synonymous SNV P6545P 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.15 78583 chr1 237811889 237811889 C T rs143906555 RYR2 Synonymous SNV L2496L 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign/Likely benign 15.18 78584 chr1 229577717 229577717 C A rs200976789 NUP133 Nonsynonymous SNV K1135N 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 24.9 78585 chr1 24077957 24077957 A G rs35797868 ELOA Nonsynonymous SNV N314D 0.008 0.008 0.014 1 9 3 0.003 4 0 0 0 0 0.494 78586 chr9 139836596 139836596 T C FBXW5 Nonsynonymous SNV Q333R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.898 78587 chr1 152692324 152692324 C T rs201318627 C1orf68 Synonymous SNV Y109Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.022 78588 chr1 202104844 202104844 C G ARL8A Nonsynonymous SNV Q121H 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 9.834 78589 chr10 73499432 73499432 C T rs374362883 CDH23 Nonsynonymous SNV A1464V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 78590 chr1 230979281 230979281 C T rs200676589 C1orf198 Nonsynonymous SNV R119H 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 25.3 78591 chr12 94955603 94955603 C T rs17022749 MIR5700 0 0 0.061 0 0 0 0 18 0 0 1 0 12.15 78592 chr12 95228631 95228631 T C rs2289029 KRT19P2 0 0 0.265 0 0 0 0 78 0 0 39 0 0.251 78593 chr1 153029137 153029137 C T rs3737864 SPRR2A Synonymous SNV E25E 0.006 0 0.044 2 7 0 0.005 13 0 0 2 0 6.024 78594 chr10 73565745 73565745 G A rs546161666 CDH23 Synonymous SNV A445A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 78595 chr10 75533274 75533274 G A FUT11 Synonymous SNV E345E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.797 78596 chr19 9491606 9491606 G C rs541910390 ZNF177 Nonsynonymous SNV G200A 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 11.81 78597 chr1 233497924 233497924 T G rs45529431 MAP3K21 Synonymous SNV L479L 0.012 0.003 0.01 1 14 1 0.003 3 0 0 0 0 9.527 78598 chr12 97133813 97133813 G A rs115819507 CFAP54 Nonsynonymous SNV E2349K 0.003 0.003 0.02 2 3 1 0.005 6 0 0 0 0 10.18 78599 chr1 153750338 153750338 C T rs201878467 SLC27A3 Stop gain R380X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 37 78600 chr12 98389204 98389204 C T rs146169041 MIR4303 0 0 0.014 0 0 0 0 4 0 0 0 0 5.33 78601 chr1 154246361 154246361 G C rs755031266 HAX1 Nonsynonymous SNV G95A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 78602 chr1 247263973 247263973 T C rs35316550 ZNF669 Synonymous SNV Q280Q 0.026 0.044 0.017 22 30 17 0.056 5 0 2 0 0 0.015 78603 chr1 154548381 154548381 A G rs8192486 CHRNB2 Synonymous SNV S494S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign/Likely benign 5.174 78604 chr13 103382404 103382404 A G rs139179962 CCDC168 Synonymous SNV H6881H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.083 78605 chr1 205116700 205116700 C A rs148542303 DSTYK Nonsynonymous SNV D881Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 34 78606 chr1 155032771 155032771 G A rs147260444 ADAM15 Nonsynonymous SNV R730H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.6 78607 chr1 10659338 10659338 C G rs41274482 PEX14 Synonymous SNV G71G 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign/Likely benign 5.845 78608 chr1 10689678 10689678 G A rs36083022 PEX14 Synonymous SNV V256V 0.009 0.013 0.02 3 10 5 0.008 6 0 0 0 0 Conflicting interpretations of pathogenicity 12.26 78609 chr1 155290181 155290181 G T rs199989847 RUSC1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.857 78610 chr1 11007818 11007818 C T C1orf127 Nonsynonymous SNV E653K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 78611 chr1 155838531 155838531 C T rs372031411 SYT11 Synonymous SNV P270P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.662 78612 chr1 206331145 206331145 G A rs782364178 CTSE Nonsynonymous SNV V262M 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 34 78613 chr1 155917805 155917805 G T rs775775307 ARHGEF2 Nonsynonymous SNV D963E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.779 78614 chr1 241886645 241886645 G C rs56327926 WDR64 Nonsynonymous SNV K367N 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 26.3 78615 chr1 156011336 156011336 G A rs62001917 UBQLN4 Synonymous SNV S511S 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 Benign 7.452 78616 chr1 241936177 241936177 C T rs146683597 WDR64 Nonsynonymous SNV P792S 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 23.4 78617 chr13 109475610 109475610 G A rs405397 MYO16 Nonsynonymous SNV V361I 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Benign 5.084 78618 chr1 206902437 206902437 A G rs55712453 MAPKAPK2 Synonymous SNV T159T 0.006 0.003 0.02 4 7 1 0.01 6 0 0 0 0 5.206 78619 chr10 92631775 92631775 C T rs41286916 RPP30 Nonsynonymous SNV A11V 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 6.412 78620 chr1 207134104 207134104 G T rs61729352 FCAMR Nonsynonymous SNV L373I 0.018 0.01 0.017 4 21 4 0.01 5 0 0 0 0 0.003 78621 chr1 1563546 1563546 A G rs201517119 MIB2 Nonsynonymous SNV K660E 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 25.2 78622 chr1 207195868 207195868 G A rs139672832 C1orf116 Nonsynonymous SNV P168L 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.007 78623 chr1 156621286 156621286 C T rs147928348 BCAN Nonsynonymous SNV P368S 0.01 0.005 0.007 3 12 2 0.008 2 0 0 0 0 0.985 78624 chr13 111274576 111274576 G A rs141591089 NAXD Synonymous SNV A38A 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 10.23 78625 chr13 111298344 111298344 G A rs143945861 CARS2 Synonymous SNV H429H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.884 78626 chr1 156752084 156752084 A C PRCC Nonsynonymous SNV E160A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 78627 chr1 209803199 209803199 A G rs52814161 LAMB3 Nonsynonymous SNV Y339H 0.034 0.042 0.058 15 40 16 0.038 17 0 0 1 0 Uncertain significance 7.697 78628 chr13 113464962 113464962 A G rs11616247 ATP11A Synonymous SNV A121A 0.019 0.034 0.02 6 22 13 0.015 6 0 0 0 0 4.508 78629 chr1 157803002 157803002 T A CD5L Nonsynonymous SNV D340V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 78630 chr1 158224912 158224912 G A rs140904380 CD1A Nonsynonymous SNV A22T 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 1.647 78631 chr13 114535637 114535637 C T rs145302934 GAS6 Nonsynonymous SNV R308Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 78632 chr1 21036265 21036265 C T rs33996125 KIF17 Synonymous SNV V179V 0.018 0.031 0.02 12 21 12 0.031 6 0 0 0 0 13.84 78633 chr1 21071419 21071419 G A rs17448349 HP1BP3 Synonymous SNV P511P 0.033 0.036 0.031 13 39 14 0.033 9 0 0 0 0 7.493 78634 chr1 21076274 21076274 G A rs12729575 HP1BP3 Synonymous SNV T361T 0.033 0.036 0.031 13 39 14 0.033 9 0 0 0 0 11.22 78635 chr13 19761502 19761502 A G rs749487081 LOC101928697 0 0 0.003 0 0 0 0 1 0 0 0 0 2.308 78636 chr10 97787032 97787032 T G rs544030725 CC2D2B Nonsynonymous SNV N301K 0.003 0 0 0 4 0 0 0 0 0 0 0 26.7 78637 chr10 98155774 98155774 G A rs181743351 TLL2 Nonsynonymous SNV T463I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.288 78638 chr10 13276241 13276241 G A rs187657704 UCMA Synonymous SNV A6A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 11.49 78639 chr1 112042732 112042732 A T rs2800889 ADORA3 Nonsynonymous SNV M266K 0.028 0.039 0.065 9 33 15 0.023 19 1 1 1 0 14.1 78640 chr1 112043139 112043139 G A rs2789537 ADORA3 Synonymous SNV A130A 0.026 0.036 0.058 9 31 14 0.023 17 1 1 1 0 19.67 78641 chr10 98742088 98742088 T C rs7082522 LCOR Nonsynonymous SNV L624P 0.009 0.013 0.017 5 10 5 0.013 5 0 0 0 0 2.027 78642 chr10 81371637 81371637 T C rs1059047 SFTPA1 Nonsynonymous SNV V19A 0.051 0.065 0.092 19 60 25 0.049 27 1 1 0 0 Benign/Likely benign 0.001 78643 chr13 21750534 21750534 G A rs61740857 SKA3 Nonsynonymous SNV A28V 0.011 0.005 0.024 10 13 2 0.026 7 0 0 0 0 23.6 78644 chr13 21866840 21866840 A G rs17282465 LOC101928764 Synonymous SNV D72D 0 0 0.16 0 0 0 0 47 0 0 6 0 0.908 78645 chr13 21867727 21867727 A G rs3814798 LOC101928764 Nonsynonymous SNV S14P 0 0 0.252 0 0 0 0 74 0 0 7 0 6.484 78646 chr1 158299840 158299840 C T rs35841099 CD1B Nonsynonymous SNV G137R 0.01 0.008 0.003 3 12 3 0.008 1 0 0 0 0 8.468 78647 chr13 25480663 25480663 C T rs145679691 CENPJ Nonsynonymous SNV E505K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.01 78648 chr1 11579460 11579460 C T rs115714778 DISP3 Synonymous SNV D646D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.93 78649 chr13 28542961 28542961 C G rs1805106 CDX2 Synonymous SNV P61P 0.007 0.018 0.017 0 8 7 0 5 1 0 0 0 9.228 78650 chr1 26670656 26670656 C A rs185540835 CRYBG2 Nonsynonymous SNV E831D 0.014 0.018 0.003 2 16 7 0.005 1 0 0 0 0 20.5 78651 chr1 16053730 16053730 G A rs750156567 PLEKHM2 Nonsynonymous SNV R388H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 14.95 78652 chr10 101640025 101640025 T C DNMBP Nonsynonymous SNV E996G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 78653 chr1 215848632 215848632 G A rs369544099 USH2A Synonymous SNV A4207A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 3.232 78654 chr1 159035839 159035839 C A rs369765206 AIM2 Nonsynonymous SNV R121L 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 4.816 78655 chr1 27744825 27744825 C G rs150650907 WASF2 Nonsynonymous SNV E122Q 0.013 0.005 0.003 7 15 2 0.018 1 0 0 0 2 23.5 78656 chr1 11896141 11896141 A G rs41275498 CLCN6 Synonymous SNV T615T 0.028 0.018 0.02 5 33 7 0.013 6 0 0 1 0 3.353 78657 chr1 218520157 218520157 G A rs149215818 TGFB2 Synonymous SNV E38E 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Benign/Likely benign 11.21 78658 chr10 26241135 26241135 T C rs759868158 MYO3A Synonymous SNV Y32Y 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.147 78659 chr1 120510194 120510194 C T rs199565938 NOTCH2 Nonsynonymous SNV A439T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 23.6 78660 chr10 26998637 26998637 T G rs77826284 PDSS1 Nonsynonymous SNV F136C 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 31 78661 chr1 22159784 22159784 G A rs149159881 HSPG2 Nonsynonymous SNV T3692I 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 78662 chr1 1246749 1246749 G A rs149197908 PUSL1 Nonsynonymous SNV S324N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 78663 chr10 103827487 103827487 A T HPS6 Synonymous SNV P752P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 78664 chr1 31842320 31842320 T C rs2228194 FABP3 Nonsynonymous SNV K64R 0.037 0.044 0.044 10 44 17 0.026 13 1 1 1 0 9.23 78665 chr1 1262815 1262815 G A rs376639064 CPTP Nonsynonymous SNV R106Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 78666 chr1 163307814 163307814 C G NUF2 Nonsynonymous SNV S147C 0.003 0 0 0 3 0 0 0 0 0 0 0 27.9 78667 chr1 248844830 248844830 C G rs147772378 OR14I1 Nonsynonymous SNV G259A 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 0.003 78668 chr13 40238256 40238256 G T rs138201016 MIR4305 0 0 0.02 0 0 0 0 6 0 0 0 0 1.414 78669 chr1 120056830 120056830 T C rs763511428 HSD3B1 Synonymous SNV N228N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.358 78670 chr1 16464459 16464459 C A rs758416217 EPHA2 Nonsynonymous SNV D347Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 29.2 78671 chr1 32829689 32829689 A G rs773775531 TSSK3 Synonymous SNV T213T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 78672 chr10 105202013 105202013 C T rs149891417 PDCD11 Nonsynonymous SNV A1584V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 31 78673 chr1 14107243 14107243 C T rs74906654 PRDM2 Nonsynonymous SNV P784S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 78674 chr1 16458339 16458339 G A rs112285834 EPHA2 Synonymous SNV T730T 0.009 0.005 0.014 0 10 2 0 4 0 0 0 0 Benign/Likely benign 5.001 78675 chr1 3379830 3379830 G A rs183210126 ARHGEF16 Nonsynonymous SNV R61Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.934 78676 chr1 1333713 1333713 T C rs138406527 CCNL2 Nonsynonymous SNV M125V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23 78677 chr1 166819585 166819585 T C rs142458414 POGK Nonsynonymous SNV L472S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.52 78678 chr1 16535487 16535487 G C rs143314517 ARHGEF19 Nonsynonymous SNV H21Q 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 7.396 78679 chr1 34643450 34643450 G A rs41266411 C1orf94 Synonymous SNV E20E 0.016 0.01 0.024 4 19 4 0.01 7 0 0 0 0 7.171 78680 chr1 3519110 3519110 G A rs377495291 MEGF6 Synonymous SNV C62C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.575 78681 chr10 105891927 105891927 G C rs117628923 CFAP43 Nonsynonymous SNV L1542V 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 Benign 2.002 78682 chr10 105953629 105953629 G A rs143713336 CFAP43 Synonymous SNV H479H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.136 78683 chr1 167825477 167825477 T C rs141364875 ADCY10 Synonymous SNV A546A 0.011 0.005 0.003 1 13 2 0.003 1 0 0 0 0 Benign 0.04 78684 chr1 16641797 16641797 C T rs61753288 FBXO42 Synonymous SNV E39E 0.004 0.005 0.014 0 5 2 0 4 0 0 0 0 10.12 78685 chr1 36553097 36553097 C T rs761848844 TEKT2 Nonsynonymous SNV R305C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 78686 chr1 225305589 225305589 C G DNAH14 Nonsynonymous SNV L1327V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.9 78687 chr1 168020146 168020146 A G rs935149406 DCAF6 Nonsynonymous SNV T728A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 78688 chr1 36785049 36785049 A G rs372178334 SH3D21 Nonsynonymous SNV N197S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 78689 chr1 29342245 29342245 C T rs142874233 EPB41 Nonsynonymous SNV P256S 0.006 0.016 0.02 6 7 6 0.015 6 0 0 0 0 Benign 32 78690 chr13 74988872 74988872 C T rs61965143 LOC100288208 0 0 0.048 0 0 0 0 14 0 0 2 0 0.289 78691 chr1 150960593 150960593 G A rs149528939 ANXA9 Nonsynonymous SNV G242R 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 23.2 78692 chr13 74988961 74988961 G A rs61965144 LOC100288208 0 0 0.071 0 0 0 0 21 0 0 2 0 0.805 78693 chr1 38187411 38187411 G A rs369715737 EPHA10 Synonymous SNV L689L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 78694 chr13 76415932 76415932 C A rs754235190 LMO7 Nonsynonymous SNV Q955K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.695 78695 chr1 169521963 169521963 C A rs373172802 F5 Nonsynonymous SNV R376S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.9 78696 chr10 115947913 115947913 C T TDRD1 Nonsynonymous SNV A108V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.994 78697 chr1 32713199 32713199 A G rs2291063 FAM167B Synonymous SNV Q59Q 0.027 0.026 0.037 5 32 10 0.013 11 2 0 0 0 0.552 78698 chr13 78492540 78492540 C T rs1801710 EDNRB Nonsynonymous SNV G57S 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.837 78699 chr1 33134865 33134865 A C rs11551266 RBBP4 Synonymous SNV P264P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.381 78700 chr1 33134922 33134922 T C rs74064157 RBBP4 Synonymous SNV Y283Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.292 78701 chr1 171073018 171073018 C T rs141235954 FMO3 Synonymous SNV P75P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 12.98 78702 chr14 100135215 100135215 G A rs138192019 HHIPL1 Nonsynonymous SNV V593M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.094 78703 chr14 100758911 100758911 G A rs749655152 SLC25A29 Synonymous SNV T141T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.05 78704 chr1 17431434 17431434 G A rs144200280 PADI2 Nonsynonymous SNV S72L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.1 78705 chr14 101138506 101138506 C T rs73358743 LINC00523 0 0 0.133 0 0 0 0 39 0 0 5 0 7.01 78706 chr1 35227169 35227169 A G rs756918766 GJB4 Nonsynonymous SNV H105R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 4.537 78707 chr1 3624256 3624256 G A rs761898929 TP73 Synonymous SNV S61S 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 4.44 78708 chr1 175957444 175957444 T C rs201905141 COP1 Nonsynonymous SNV N411S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.56 78709 chr14 103404716 103404716 C T rs34201193 CDC42BPB Synonymous SNV P1620P 0.004 0 0.024 1 5 0 0.003 7 0 0 0 0 12.55 78710 chr1 17657572 17657572 A G PADI4 Synonymous SNV T67T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.048 78711 chr1 176671815 176671815 G A rs114236977 PAPPA2 Synonymous SNV S1103S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12 78712 chr1 176664921 176664921 G A rs769584951 PAPPA2 Nonsynonymous SNV R891H 0.011 0 0 2 13 0 0.005 0 0 0 0 0 18.59 78713 chr1 154127333 154127333 C T rs778840431 NUP210L Nonsynonymous SNV R63Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.6 78714 chr1 177245395 177245395 C T rs143861053 BRINP2 Synonymous SNV Y279Y 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 10.35 78715 chr1 38488414 38488414 A G UTP11 Nonsynonymous SNV Q204R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.01 78716 chr1 154557440 154557440 T G rs146625055 ADAR Synonymous SNV R880R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 12.68 78717 chr1 15438826 15438827 TG - TMEM51-AS1 0.003 0 0 0 4 0 0 0 2 0 0 0 78718 chr1 45480232 45480232 T A rs36033115 UROD Nonsynonymous SNV L253Q 0.005 0.018 0 3 6 7 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 78719 chr14 104575640 104575640 C T rs201499159 ASPG Nonsynonymous SNV T503M 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 25.7 78720 chr1 40309887 40309887 G A TRIT1 Nonsynonymous SNV H292Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.205 78721 chr1 155159718 155159718 G A rs372682991 MUC1 Nonsynonymous SNV R121C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 78722 chr14 104710768 104710768 G A rs7142104 LINC02691 0 0 0.024 0 0 0 0 7 0 0 0 0 0.069 78723 chr1 46662456 46662456 C T rs150576537 POMGNT1 Nonsynonymous SNV V79I 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.79 78724 chr1 156206181 156206181 C T rs11540816 PMF1, PMF1-BGLAP Nonsynonymous SNV P137L 0.014 0.008 0.017 10 17 3 0.026 5 0 0 0 0 22.8 78725 chr1 41976345 41976345 T C rs140839222 HIVEP3 Nonsynonymous SNV E2332G 0.056 0.039 0.031 22 66 15 0.056 9 1 0 0 0 1.192 78726 chr1 15615958 15615958 C T FHAD1 Stop gain Q122X 0.003 0 0 0 4 0 0 0 0 0 0 0 31 78727 chr1 236758882 236758882 T C rs144891600 HEATR1 Nonsynonymous SNV M350V 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 9.59 78728 chr10 71562291 71562291 C T rs765175319 COL13A1 Nonsynonymous SNV R38W 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 26.5 78729 chr1 237060372 237060372 A G rs61739582 MTR Nonsynonymous SNV N1171S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 13.58 78730 chr1 42880442 42880442 G A rs34142209 RIMKLA Nonsynonymous SNV E325K 0.025 0.034 0.014 7 29 13 0.018 4 1 0 1 0 25.2 78731 chr1 53544682 53544682 C T rs368759459 PODN Synonymous SNV L500L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.489 78732 chr1 53600047 53600047 T C rs138955039 SLC1A7 Nonsynonymous SNV M64V 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 9.257 78733 chr1 43898263 43898263 G A rs766998025 SZT2 Nonsynonymous SNV V1783M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.58 78734 chr1 24194533 24194533 G A rs80358196 FUCA1 Stop gain Q82X 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Pathogenic 25.2 78735 chr1 156646930 156646930 - C NES Frameshift insertion L43Afs*26 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 78736 chr1 45120662 45120662 G C rs147880398 TMEM53 Nonsynonymous SNV L62V 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 21.6 78737 chr10 135139570 135139570 C T rs149764782 CALY Nonsynonymous SNV E57K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.2 78738 chr1 45293560 45293560 G A rs112563011 PTCH2 Synonymous SNV F671F 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 Benign 1.401 78739 chr14 21109505 21109505 G T rs72659934 OR6S1 Nonsynonymous SNV L116M 0.014 0.013 0.027 11 17 5 0.028 8 0 0 0 1 23.7 78740 chr1 156910201 156910201 C G rs753571729 ARHGEF11 Nonsynonymous SNV Q1137H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.2 78741 chr1 15772235 15772235 G T rs759821387 CTRC Nonsynonymous SNV W261C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 78742 chr1 157805625 157805625 - CTC CD5L E125_N126insE 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 78743 chr1 158261166 158261166 C T rs773633085 CD1C Nonsynonymous SNV H102Y 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 0.002 78744 chr1 156909517 156909517 G A ARHGEF11 Nonsynonymous SNV L1267F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.056 78745 chr10 75258558 75258558 G A rs61749235 USP54 Synonymous SNV T1566T 0.014 0.013 0.017 2 16 5 0.005 5 0 0 0 0 5.35 78746 chr10 75574956 75574956 G A rs55640406 CAMK2G Synonymous SNV H369H 0.013 0.01 0.027 2 15 4 0.005 8 0 0 0 0 11.35 78747 chr1 19559241 19559241 G A rs138451773 EMC1 Synonymous SNV G531G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.97 78748 chr10 76788660 76788668 GAAGAGGAA - rs544824146 KAT6B E585_E587del 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 78749 chr1 196303054 196303054 C T rs761034037 KCNT2 Synonymous SNV S590S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 78750 chr1 19493660 19493660 C G UBR4 Nonsynonymous SNV S1322T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.03 78751 chr1 19684042 19684042 G A rs368660059 CAPZB Synonymous SNV G115G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.81 78752 chr1 5924518 5924518 G A rs115526767 NPHP4 Synonymous SNV G780G 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Benign 8.526 78753 chr1 158648205 158648205 T C rs36058424 SPTA1 Synonymous SNV L266L 0.019 0.016 0.01 5 22 6 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.062 78754 chr1 6172269 6172269 C T CHD5 Nonsynonymous SNV E1691K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 78755 chr14 23524822 23524822 G A rs376742660 CDH24 Nonsynonymous SNV R41W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 78756 chr14 23574096 23574110 GCAGCAGCAGCAGCA - rs142154188 LMLN2 L7_L11del 0 0 0.054 0 0 0 0 16 0 0 0 0 78757 chr14 23744932 23744932 C T rs1055061 HOMEZ Nonsynonymous SNV R502Q 0.041 0.034 0.065 17 48 13 0.044 19 0 0 1 0 20.9 78758 chr1 201185637 201185637 C T rs141101331 IGFN1 Synonymous SNV G3117G 0.015 0.023 0.01 8 18 9 0.021 3 0 0 0 0 16.45 78759 chr1 161019031 161019031 C T rs761202064 ARHGAP30 Nonsynonymous SNV A417T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.322 78760 chr14 24803710 24803710 G A rs77202343 ADCY4 Nonsynonymous SNV A50V 0.021 0.01 0.024 6 25 4 0.015 7 0 0 0 0 23.1 78761 chr1 55352613 55352613 G A rs79857573 DHCR24 Synonymous SNV L60L 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 Benign 7.916 78762 chr1 159805180 159805180 G A rs139125332 SNHG28 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.195 78763 chr1 202183358 202183358 G - rs74355478 LGR6 A26Rfs*7 0.032 0.016 0.027 8 37 6 0.021 8 2 1 1 0 78764 chr14 25101190 25101190 G A GZMB Synonymous SNV H146H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.143 78765 chr1 248084524 248084524 G A rs28575687 OR2T8 Nonsynonymous SNV V69M 0.01 0.021 0.014 8 12 8 0.021 4 0 0 0 0 0.002 78766 chr10 92678707 92678707 G A rs145387010 ANKRD1 Nonsynonymous SNV T123M 0.009 0.003 0 0 10 1 0 0 3 0 0 0 Uncertain significance 0.336 78767 chr1 6694119 6694119 C T rs138002206 THAP3 Nonsynonymous SNV R167C 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.51 78768 chr1 203831060 203831060 C T rs183028927 SNRPE Stop gain Q7X 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 7.887 78769 chr1 161681848 161681848 C T rs4301614 FCRLA Synonymous SNV S68S 0.039 0.031 0.048 17 46 12 0.044 14 0 0 1 0 12.25 78770 chr11 1017092 1017092 G C rs748974740 MUC6 Nonsynonymous SNV S1903R 0.011 0.005 0 4 13 2 0.01 0 0 0 0 0 16.75 78771 chr1 6479040 6479040 G A rs2235687 HES2 Nonsynonymous SNV P139S 0.019 0.013 0 6 22 5 0.015 0 0 0 0 1 2.829 78772 chr1 76363680 76363680 A G rs142644407 MSH4 Nonsynonymous SNV Q815R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 78773 chr14 50074361 50074361 T C rs35174395 LRR1 Synonymous SNV L176L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.039 78774 chr14 50251670 50251670 T C rs73283660 NEMF Synonymous SNV R1021R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.777 78775 chr1 7848143 7848143 G A rs768430140 PER3 Synonymous SNV R143R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.93 78776 chr1 169565284 169565284 T C rs3917813 SELP Synonymous SNV G660G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.081 78777 chr1 169566242 169566242 T C rs3917805 SELP Synonymous SNV P626P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 2.621 78778 chr1 249108780 249108780 C T rs774473164 SH3BP5L Synonymous SNV L16L 0 0.005 0 0 0 2 0 0 0 0 0 0 11.04 78779 chr1 205030522 205030522 C T rs139732336 CNTN2 Nonsynonymous SNV T316I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.6 78780 chr1 79125148 79125148 G A rs115887090 IFI44 Nonsynonymous SNV R331Q 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 21.1 78781 chr1 7998823 7998823 C T rs9657963 TNFRSF9 Nonsynonymous SNV A56T 0.016 0.008 0.017 11 19 3 0.028 5 0 0 0 0 Benign 0.198 78782 chr1 8421188 8421188 C T rs368307554 RERE Synonymous SNV A239A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.05 78783 chr1 171303810 171303810 C T rs144578261 FMO4 Nonsynonymous SNV A363V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 78784 chr1 26515264 26515264 C T rs141991719 CNKSR1 Synonymous SNV D571D 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 1.16 78785 chr1 169764276 169764276 G C C1orf112 Synonymous SNV A11A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 78786 chr1 86921205 86921205 T A CLCA2 Nonsynonymous SNV L943I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.498 78787 chr1 86965382 86965382 G A CLCA1 Nonsynonymous SNV R800K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 78788 chr1 171077274 171077274 G T rs75904274 FMO3 Nonsynonymous SNV G117V 0.03 0.023 0.024 10 35 9 0.026 7 2 0 0 0 Benign 9.681 78789 chr11 1017386 1017386 C T rs771552497 MUC6 Synonymous SNV G1805G 0.016 0.008 0.003 7 19 3 0.018 1 0 0 0 0 8.969 78790 chr10 104184901 104184901 G C rs199727426 CUEDC2 Synonymous SNV V15V 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 8.844 78791 chr1 216017693 216017693 A G rs764236480 USH2A Synonymous SNV N3067N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Likely benign 0.007 78792 chr1 216144049 216144049 C T rs41277210 USH2A Nonsynonymous SNV R2292H 0.018 0.016 0.003 11 21 6 0.028 1 0 0 0 0 Benign 9.739 78793 chr1 20998650 20998650 C T rs772481150 KIF17 Nonsynonymous SNV E835K 0.003 0 0 0 3 0 0 0 0 0 0 0 35 78794 chr14 62595135 62595135 G A rs940038533 LINC00643 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 78795 chr1 32085252 32085252 G A rs545611444 HCRTR1 Nonsynonymous SNV D107N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 27.4 78796 chr1 220179510 220179510 T C rs150364999 EPRS1 Nonsynonymous SNV I630V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 78797 chr1 178063763 178063763 G T rs966333857 RASAL2 Nonsynonymous SNV G46C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 78798 chr1 212118244 212118244 G A rs763590060 INTS7 Nonsynonymous SNV A779V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 78799 chr11 1502077 1502077 G A rs760971993 MOB2 Nonsynonymous SNV A50V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.457 78800 chr1 178834155 178834155 G A rs138256408 ANGPTL1 Nonsynonymous SNV P253S 0.017 0.01 0.007 1 20 4 0.003 2 0 0 0 0 13.56 78801 chr1 22202483 22202483 G A rs62642528 HSPG2 Nonsynonymous SNV P1020L 0.012 0.003 0.027 8 14 1 0.021 8 0 0 0 0 Benign/Likely benign 19.24 78802 chr11 1651182 1651182 T C rs767745193 KRTAP5-5 Nonsynonymous SNV C38R 0.013 0.005 0.007 2 15 2 0.005 2 0 0 0 0 14.85 78803 chr10 106074505 106074505 C T rs151096173 ITPRIP Synonymous SNV T435T 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 12.94 78804 chr1 175129924 175129924 - CTTCTT KIAA0040 K75_D76insKK 0.006 0.008 0 9 7 3 0.023 0 0 0 0 0 78805 chr1 214556765 214556765 G A rs151214913 PTPN14 Synonymous SNV P811P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.369 78806 chr1 215847544 215847544 C T rs730254 USH2A Nonsynonymous SNV R4570H 0.012 0.013 0.003 1 14 5 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 78807 chr1 880466 880466 T C rs138652036 NOC2L Nonsynonymous SNV E705G 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 3.954 78808 chr1 177930867 177930867 T C rs17850449 CRYZL2P-SEC16B, SEC16B Synonymous SNV P215P 0.012 0.003 0.02 1 14 1 0.003 6 0 0 0 0 1.926 78809 chr14 70489944 70489944 C T SMOC1 Synonymous SNV H357H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 78810 chr1 178490387 178490387 A G rs35619308 TEX35 Nonsynonymous SNV N200D 0.014 0.01 0 2 17 4 0.005 0 1 0 0 0 24.7 78811 chr1 216420214 216420214 G T rs111033282 USH2A Nonsynonymous SNV S841Y 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 24.5 78812 chr1 21945530 21945530 C T rs77539762 RAP1GAP Synonymous SNV P82P 0.025 0.023 0.027 8 29 9 0.021 8 0 0 0 0 15.1 78813 chr1 21976289 21976289 C T rs141127873 RAP1GAP Synonymous SNV G15G 0.006 0.016 0.024 1 7 6 0.003 7 0 0 0 0 18.1 78814 chr1 36927727 36927727 C T rs200018980 MRPS15 Synonymous SNV T71T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.237 78815 chr1 3743278 3743278 T C rs144805659 CEP104 Nonsynonymous SNV N728D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 0.702 78816 chr1 184764740 184764740 C T rs17313374 NIBAN1 Nonsynonymous SNV V720M 0.011 0.005 0.01 7 13 2 0.018 3 0 0 0 0 23 78817 chr1 9079301 9079301 C T rs34545462 SLC2A7 Nonsynonymous SNV V135I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 17.33 78818 chr20 1223406 1223406 T C RAD21L1 Synonymous SNV L334L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.813 78819 chr14 75590778 75590778 G A rs781664727 NEK9 Nonsynonymous SNV T123M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 78820 chr1 228407243 228407243 G A OBSCN Nonsynonymous SNV G958R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 78821 chr1 181767498 181767498 G A rs2480373 CACNA1E Nonsynonymous SNV R2095Q 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 34 78822 chr1 40737589 40737589 T C rs2076697 ZMPSTE24 Synonymous SNV D217D 0.055 0.06 0.071 26 64 23 0.067 21 2 1 1 1 Benign 4.731 78823 chr1 182873431 182873431 C T rs12138972 SHCBP1L Nonsynonymous SNV V491M 0.021 0.008 0.007 8 25 3 0.021 2 0 0 0 0 31 78824 chr10 123842755 123842755 A C rs151218566 TACC2 Nonsynonymous SNV Q247P 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Likely benign 0.173 78825 chr14 77793237 77793237 G A rs7972 GSTZ1 Nonsynonymous SNV G43R 0.036 0.029 0.051 10 42 11 0.026 15 1 0 0 0 25.4 78826 chr1 41979162 41979162 C T rs140035336 HIVEP3 Synonymous SNV T1910T 0.02 0.01 0.01 9 23 4 0.023 3 0 0 0 0 9.203 78827 chr14 77845379 77845379 T A rs147769140 SAMD15 Nonsynonymous SNV F540I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 78828 chr1 94473287 94473287 G A rs28938473 ABCA4 Nonsynonymous SNV L1970F 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 78829 chr1 196706642 196706642 C T rs35292876 CFH Synonymous SNV H878H 0.009 0.018 0.01 5 10 7 0.013 3 0 0 0 1 Benign/Likely benign 9.977 78830 chr10 124378854 124378854 G A DMBT1 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 19.72 78831 chr20 17434581 17434581 A G rs16999198 PCSK2 Synonymous SNV K325K 0.011 0.013 0.027 8 13 5 0.021 8 0 0 0 0 2.154 78832 chr1 229768125 229768125 A G rs769402409 URB2 Nonsynonymous SNV H79R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 78833 chr14 88945580 88945580 G T rs774781552 PTPN21 Nonsynonymous SNV A732E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 78834 chr1 985819 985819 G A rs371635309 AGRN Synonymous SNV A1663A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.611 78835 chr14 89171288 89171288 T C rs373512419 EML5 Nonsynonymous SNV Q656R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 78836 chr10 126515249 126515249 G A rs140695652 ABRAXAS2 Nonsynonymous SNV R118H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.3 78837 chr1 230979577 230979577 G - C1orf198 S20Rfs*61 0.002 0 0 0 2 0 0 0 0 0 0 0 78838 chr20 1214733 1214733 A G rs765509960 RAD21L1 Nonsynonymous SNV I125V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.97 78839 chr1 231557539 231557539 G A rs749684908 EGLN1 Synonymous SNV R32R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 78840 chr1 193053762 193053762 C T rs12531 RO60 Synonymous SNV F231F 0.035 0.023 0.024 12 41 9 0.031 7 0 0 0 1 12.98 78841 chr20 19662551 19662551 G A rs144722474 SLC24A3 Nonsynonymous SNV G273R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.64 78842 chr1 230822832 230822832 C G rs143526339 COG2 Nonsynonymous SNV T511S 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 Likely benign 7.621 78843 chr14 95056440 95056440 G C rs140138746 SERPINA5 Nonsynonymous SNV E228Q 0.011 0.01 0.007 1 13 4 0.003 2 0 0 0 0 7.889 78844 chr1 51767399 51767399 G A rs150147716 TTC39A Nonsynonymous SNV R301W 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 32 78845 chr1 2327277 2327277 G A rs200462998 RER1 Synonymous SNV S16S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.57 78846 chr14 96756872 96756872 G A rs764529741 ATG2B Synonymous SNV G1919G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.782 78847 chr14 96769566 96769566 C T rs114955360 ATG2B Synonymous SNV P1623P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.41 78848 chr14 96781800 96781800 T C rs201736391 ATG2B Nonsynonymous SNV D1161G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 78849 chr1 19983382 19983382 C T rs139196947 MICOS10-NBL1, NBL1 Synonymous SNV H102H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.04 78850 chr14 96784084 96784084 A G rs116026484 ATG2B Synonymous SNV N996N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.988 78851 chr1 236744626 236744626 C T rs147383856 HEATR1 Nonsynonymous SNV S884N 0.01 0.016 0.007 0 12 6 0 2 0 0 0 0 0.016 78852 chr14 98217872 98217872 A G rs61981578 LINC02312 0 0 0.408 0 0 0 0 120 0 0 37 0 5.501 78853 chr1 53544194 53544194 C T rs201228904 PODN Synonymous SNV L338L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 10.08 78854 chr11 5758374 5758374 G A rs757891171 OR56B1 Nonsynonymous SNV V210I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 78855 chr20 20208971 20208971 G A rs6046740 CFAP61 Nonsynonymous SNV V671I 0.014 0.013 0.003 3 17 5 0.008 1 0 0 0 0 24.2 78856 chr20 2083555 2083555 C G rs376078164 STK35 Nonsynonymous SNV Q146E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.83 78857 chr1 53580585 53580585 G A rs17108032 SLC1A7 Synonymous SNV T92T 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 14.42 78858 chr20 21695356 21695356 C T rs138641387 PAX1 Nonsynonymous SNV P507L 0.02 0.008 0 5 24 3 0.013 0 0 0 0 0 Benign/Likely benign 18.36 78859 chr1 204106337 204106337 C G rs140658518 ETNK2 Nonsynonymous SNV E125D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.4 78860 chr20 2846052 2846052 T C rs61729229 VPS16 Nonsynonymous SNV W584R 0.027 0.029 0.024 11 32 11 0.028 7 1 1 0 0 24.1 78861 chr1 234743113 234743113 G T rs771961154 IRF2BP2 Synonymous SNV R496R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.71 78862 chr20 30072020 30072020 G C rs760821038 REM1 Synonymous SNV L228L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.747 78863 chr15 101042043 101042043 C T rs77089459 CERS3 Synonymous SNV T4T 0.015 0.026 0.024 5 18 10 0.013 7 0 0 0 0 11.55 78864 chr15 101094072 101094077 CACACA - rs372152527 PRKXP1 0 0 0.085 0 0 0 0 25 0 0 6 0 78865 chr15 101099454 101099454 G A rs149043476 PRKXP1 0 0 0.027 0 0 0 0 8 0 0 0 0 4.252 78866 chr20 30584886 30584886 C T XKR7 Nonsynonymous SNV R456C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 78867 chr1 240070944 240070944 G A rs2067481 CHRM3 Nonsynonymous SNV V65I 0.013 0.003 0.031 10 15 1 0.026 9 0 0 0 1 0.003 78868 chr20 30818662 30818662 C T POFUT1 Nonsynonymous SNV S259L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 78869 chr1 240255501 240255501 A G rs745730585 FMN2 Nonsynonymous SNV D31G 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 78870 chr15 101569366 101569366 G A rs61733311 LRRK1 Synonymous SNV T964T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.63 78871 chr15 101591917 101591917 C A rs116807808 LRRK1 Synonymous SNV A1147A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.764 78872 chr1 55266813 55266813 G A rs35727264 TTC22 Synonymous SNV A8A 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 10.51 78873 chr20 25000683 25000683 C T rs145679432 ACSS1 Synonymous SNV K282K 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.93 78874 chr15 102345993 102345993 A C rs201407679 OR4F6 Nonsynonymous SNV Q24P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 78875 chr1 201294910 201294910 C T rs61818256 PKP1 Nonsynonymous SNV R684W 0.011 0.018 0.014 7 13 7 0.018 4 0 0 0 0 Benign 35 78876 chr1 206331027 206331027 G A rs145069780 CTSE Nonsynonymous SNV V345M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 78877 chr11 369938 369938 C T B4GALNT4 Synonymous SNV R45R 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 11.56 78878 chr15 21937746 21937746 - CAGAACC LOC646214 0 0 0.003 0 0 0 0 1 0 0 0 0 78879 chr20 30619042 30619042 - GAC rs139704146 CCM2L D552_E553insD 0.037 0.039 0.037 10 43 15 0.026 11 1 0 0 0 78880 chr15 25429473 25429473 A G rs72546345 SNORD115-8 0 0 0.014 0 0 0 0 4 0 0 0 0 6.852 78881 chr1 202287984 202287984 A T rs140366988 LGR6 Synonymous SNV L712L 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 0.001 78882 chr20 3321244 3321244 T C rs80335486 C20orf194 Synonymous SNV T296T 0.001 0.008 0.014 2 1 3 0.005 4 0 0 0 0 6.154 78883 chr20 34078517 34078517 G A rs140439099 CEP250 Nonsynonymous SNV E249K 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 Likely benign 13.57 78884 chr20 34092213 34092213 G A rs61729988 CEP250 Nonsynonymous SNV D1374N 0.006 0.003 0.014 2 7 1 0.005 4 0 0 0 0 Benign 6.936 78885 chr1 204415250 204415250 G A rs759860822 PIK3C2B Nonsynonymous SNV R838C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 32 78886 chr20 34205739 34205739 C T SPAG4 Nonsynonymous SNV S95L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 78887 chr20 35060497 35060497 G A rs202172659 DLGAP4 Nonsynonymous SNV R126H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 78888 chr20 33033173 33033173 A G rs367592506 ITCH Synonymous SNV T239T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.791 78889 chr20 33588825 33588825 A G rs888358379 MYH7B Nonsynonymous SNV Q1822R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 78890 chr15 40330582 40330582 G A SRP14 Synonymous SNV T37T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 78891 chr20 3678476 3678476 G A rs34885739 SIGLEC1 Synonymous SNV N697N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.202 78892 chr1 213414508 213414508 A G rs140672126 RPS6KC1 Synonymous SNV T98T 0.002 0.005 0.01 4 2 2 0.01 3 0 0 0 0 0.001 78893 chr11 1016733 1016733 G T rs548701018 MUC6 Nonsynonymous SNV T2023K 0.055 0.039 0.088 22 64 15 0.056 26 0 0 0 0 2.321 78894 chr20 3785297 3785297 C T rs146399677 CDC25B Synonymous SNV G332G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 78895 chr1 214814684 214814684 A G rs145269947 CENPF Synonymous SNV A1001A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.073 78896 chr1 21573855 21573855 G A rs1076669 ECE1 Nonsynonymous SNV T329I 0.046 0.049 0.048 8 54 19 0.021 14 0 2 0 0 Benign 20.3 78897 chr1 67091583 67091583 A G SGIP1 Nonsynonymous SNV T22A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.84 78898 chr20 36952300 36952300 A G rs139584810 BPI Nonsynonymous SNV N266S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.001 78899 chr20 42163509 42163509 C T rs770545746 L3MBTL1 Synonymous SNV I494I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.27 78900 chr20 42168840 42168840 G A rs755426692 L3MBTL1 Synonymous SNV S651S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 78901 chr1 215916663 215916663 C T rs147900972 USH2A Nonsynonymous SNV E3802K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 0.002 78902 chr1 247051714 247051714 A G rs144599339 AHCTF1 Synonymous SNV Y750Y 0.012 0.003 0 7 14 1 0.018 0 0 0 0 0 0.102 78903 chr15 41482170 41482170 G A rs775248112 EXD1 Nonsynonymous SNV R283C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 78904 chr1 70616830 70616830 T C rs3180401 LRRC40 Nonsynonymous SNV I500V 0.02 0.023 0.01 14 23 9 0.036 3 0 0 0 0 12.92 78905 chr20 39832801 39832801 G A rs111592779 ZHX3 Synonymous SNV A252A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.891 78906 chr20 40084452 40084452 G A rs150157135 CHD6 Synonymous SNV S999S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.453 78907 chr20 43837303 43837303 C T rs2233889 SEMG1 Synonymous SNV N455N 0.01 0.021 0.01 5 12 8 0.013 3 0 0 0 0 8.147 78908 chr20 43850072 43850072 C T rs41303937 SEMG2 Synonymous SNV I14I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.013 78909 chr1 207110449 207110449 C T rs12748810 PIGR Nonsynonymous SNV V346I 0.028 0.023 0.02 15 33 9 0.038 6 0 0 0 0 22.5 78910 chr20 43851108 43851108 C T rs2233903 SEMG2 Nonsynonymous SNV H279Y 0.01 0.021 0.01 5 12 8 0.013 3 0 0 0 0 22.1 78911 chr20 43851375 43851375 G C rs2071650 SEMG2 Nonsynonymous SNV G368R 0.01 0.021 0.01 5 12 8 0.013 3 0 0 0 0 7.211 78912 chr1 207131906 207131906 A G rs372153877 FCAMR Synonymous SNV P563P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.072 78913 chr20 43992271 43992271 C T rs41307197 SYS1 Synonymous SNV L34L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 78914 chr1 207304993 207304993 G A rs200791483 C4BPA Nonsynonymous SNV R331H 0.003 0 0 0 3 0 0 0 0 0 0 0 1.035 78915 chr20 43355760 43355760 C T rs996887625 CCN5 Nonsynonymous SNV P189S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.001 78916 chr1 22168855 22168855 G A rs114851469 HSPG2 Nonsynonymous SNV R2978W 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 26.4 78917 chr1 212799535 212799535 G A rs114509113 FAM71A Nonsynonymous SNV R439H 0.025 0.013 0.024 7 29 5 0.018 7 0 0 0 0 5.302 78918 chr1 85029489 85029489 T A rs148638389 CTBS Nonsynonymous SNV I242F 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 29.8 78919 chr1 248756502 248756502 A C rs41269353 OR2T10 Nonsynonymous SNV S190A 0.014 0.013 0.007 3 17 5 0.008 2 0 1 0 0 0.002 78920 chr15 43818906 43818906 C T rs202038181 MAP1A Synonymous SNV H1745H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.714 78921 chr1 223175886 223175886 C T rs371163462 DISP1 Nonsynonymous SNV R383W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 78922 chr20 50406630 50406630 T G rs6091375 SALL4 Nonsynonymous SNV I798L 0.043 0.047 0.037 19 50 18 0.049 11 0 0 0 0 Benign 0.177 78923 chr15 48052595 48052595 A C rs1866501 SEMA6D Synonymous SNV T68T 0.001 0 0.01 3 1 0 0.008 3 0 0 0 0 0.002 78924 chr15 48056219 48056219 A G rs3743279 SEMA6D Nonsynonymous SNV N307S 0 0 0.01 0 0 0 0 3 0 0 0 0 15.99 78925 chr11 20483650 20483650 T C rs34565672 PRMT3 Synonymous SNV I337I 0.026 0.042 0.031 4 30 16 0.01 9 1 2 0 0 9.869 78926 chr15 51221236 51221236 A T rs368895241 AP4E1 Synonymous SNV A116A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.691 78927 chr15 52350879 52350879 T C rs2306793 MAPK6 Synonymous SNV V250V 0.013 0.013 0.01 0 15 5 0 3 0 0 0 0 3.281 78928 chr1 248570057 248570057 T C rs138375160 OR2T1 Synonymous SNV V254V 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 0.376 78929 chr15 52472273 52472273 G C rs7172037 CERNA1 0 0 0.092 0 0 0 0 27 0 0 2 0 8.418 78930 chr11 22881931 22881931 C T rs145779712 CCDC179 Nonsynonymous SNV V13I 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 15.17 78931 chr20 53208273 53208273 C T DOK5 Synonymous SNV L176L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.76 78932 chr15 53081221 53081221 C A rs2075613 ONECUT1 Synonymous SNV G287G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.08 78933 chr1 24989159 24989159 T A rs41268775 SRRM1 Nonsynonymous SNV S415T 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 22.5 78934 chr1 227946816 227946816 A G rs140543368 SNAP47 Synonymous SNV K206K 0.013 0 0.003 5 15 0 0.013 1 0 0 0 0 0.018 78935 chr20 55967629 55967629 C T rs138734120 LOC100291105 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 5.893 78936 chr20 56098882 56098882 C T rs138553138 CTCFL Nonsynonymous SNV R127Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.014 78937 chr1 25572984 25572984 T G rs34484514 RSRP1 Nonsynonymous SNV R157S 0.037 0.023 0.024 16 43 9 0.041 7 0 0 0 1 24.2 78938 chr20 57767861 57767861 T C rs765414101 ZNF831 Nonsynonymous SNV M596T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 78939 chr1 228447432 228447432 T G rs74142677 OBSCN Nonsynonymous SNV C1698G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 13.6 78940 chr15 56756420 56756420 C T rs34807682 MNS1 Nonsynonymous SNV C10Y 0.003 0.005 0.01 0 3 2 0 3 0 0 1 0 0.041 78941 chr1 32052529 32052529 C A rs113639076 TINAGL1 Nonsynonymous SNV F420L 0.011 0.003 0.017 3 13 1 0.008 5 1 0 0 0 24.6 78942 chr15 59063905 59063905 G A rs182620597 MINDY2 Nonsynonymous SNV G104E 0.008 0.013 0.003 0 9 5 0 1 0 0 0 0 25 78943 chr1 226923989 226923989 T C rs569859868 ITPKB Nonsynonymous SNV K391E 0.009 0 0 1 11 0 0.003 0 0 0 0 0 0.001 78944 chr20 60894840 60894840 G A rs35294553 LAMA5 Synonymous SNV T2257T 0.017 0.029 0.017 5 20 11 0.013 5 0 0 0 0 5.776 78945 chr11 36467869 36467869 G A rs775976935 PRR5L Nonsynonymous SNV R155H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 78946 chr15 62534764 62534764 A T rs2414766 GOLGA2P11 0 0 0.395 0 0 0 0 116 0 0 22 0 0.003 78947 chr15 62538092 62538092 G T rs2955808 GOLGA2P11 0 0 0.204 0 0 0 0 60 0 0 21 0 2.03 78948 chr15 62538610 62538610 A G rs143731875 GOLGA2P11 0 0 0.007 0 0 0 0 2 0 0 0 0 0.864 78949 chr1 28282307 28282307 G A rs35908659 SMPDL3B Nonsynonymous SNV R268H 0.008 0.008 0.014 5 9 3 0.013 4 0 0 0 0 9.69 78950 chr1 227219125 227219125 C T CDC42BPA Nonsynonymous SNV V1154M 0.009 0 0 1 10 0 0.003 0 0 0 0 0 22.8 78951 chr11 3663053 3663053 C T rs549422035 ART5 Nonsynonymous SNV G14S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.76 78952 chr1 230819342 230819342 T C rs372067889 COG2 Synonymous SNV L397L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 2.638 78953 chr11 45248429 45248429 G A rs1002911901 PRDM11 Synonymous SNV T751T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 78954 chr11 45265871 45265871 C T rs377635830 SYT13 Nonsynonymous SNV R338Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 78955 chr15 65256045 65256045 G A rs147428832 SPG21 Synonymous SNV Y254Y 0.012 0.005 0.027 4 14 2 0.01 8 0 0 0 0 Benign/Likely benign 10.87 78956 chr20 60909316 60909316 C T rs6062223 LAMA5 Nonsynonymous SNV V889M 0.038 0.023 0.041 21 45 9 0.054 12 1 0 0 1 23.4 78957 chr1 228433171 228433171 C T rs189620214 OBSCN Nonsynonymous SNV A1180V 0.014 0.01 0 3 17 4 0.008 0 0 0 0 0 4.487 78958 chr20 60921255 60921255 G A rs76592931 LAMA5 Synonymous SNV S433S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 7.22 78959 chr20 60928103 60928103 C T rs79389707 LAMA5-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.731 78960 chr15 65491281 65491281 C T rs35714337 CILP Nonsynonymous SNV R448H 0.005 0.013 0.014 2 6 5 0.005 4 0 0 0 0 13.76 78961 chr1 32208551 32208551 G A rs747989174 ADGRB2 Synonymous SNV C380C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 78962 chr1 32221808 32221808 G A rs773000127 ADGRB2 Synonymous SNV R210R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.802 78963 chr15 65681641 65681641 C T rs374664218 IGDCC4 Synonymous SNV E839E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 78964 chr1 984971 984971 G A rs111818381 AGRN Nonsynonymous SNV A1514T 0.009 0.016 0.014 1 10 6 0.003 4 0 0 0 0 Benign/Likely benign 0.023 78965 chr1 33060686 33060686 G A rs146320458 ZBTB8A Synonymous SNV P285P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.69 78966 chr15 66190361 66190361 G A rs747064732 MEGF11 Nonsynonymous SNV P1016S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 78967 chr1 9990492 9990492 G A rs762674523 LZIC Synonymous SNV L120L 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 13.13 78968 chr1 36060046 36060046 G A rs145075836 TFAP2E Synonymous SNV L366L 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 9.328 78969 chr15 66874538 66874538 C T rs117649768 LINC01169 0 0 0.02 0 0 0 0 6 0 0 1 0 6.357 78970 chr15 66977804 66977804 A G rs2439422 LINC01169 0 0 0.194 0 0 0 0 57 0 0 4 0 0.35 78971 chr15 67279551 67279551 G C rs550789257 LOC102723493 0 0 0.003 0 0 0 0 1 0 0 0 0 3.564 78972 chr15 67793076 67793076 A G rs972030571 IQCH Nonsynonymous SNV K585E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 78973 chr1 234745016 234745016 G A rs758144487 IRF2BP2 Synonymous SNV A75A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.286 78974 chr1 235938257 235938257 C A rs139694536 LYST Nonsynonymous SNV V1864L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 78975 chr20 1145081 1145081 G A rs148156083 PSMF1 Nonsynonymous SNV R154H 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 28.4 78976 chr1 235972432 235972432 C G rs77091385 LYST Nonsynonymous SNV Q562H 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.28 78977 chr1 3426533 3426533 G A rs201995912 MEGF6 Nonsynonymous SNV R420C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.5 78978 chr1 236384232 236384232 A G rs145821086 ERO1B Nonsynonymous SNV F415L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.5 78979 chr1 3789119 3789119 C A rs368137137 DFFB Synonymous SNV T279T 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 18.77 78980 chr15 69857737 69857737 A G rs16953470 DRAIC 0 0 0.068 0 0 0 0 20 0 0 1 0 0.779 78981 chr15 71125078 71125078 G A rs371562863 LARP6 Synonymous SNV F79F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.397 78982 chr1 35260363 35260363 C T rs77724550 GJA4 Synonymous SNV P183P 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 12.17 78983 chr20 62196625 62196625 C T rs201173485 HELZ2 Nonsynonymous SNV E615K 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.002 78984 chr15 73994667 73994667 T C rs199799869 CD276 Nonsynonymous SNV S51P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 78985 chr1 40150212 40150212 A G rs145712921 HPCAL4 Nonsynonymous SNV F22L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 78986 chr1 236761265 236761265 C T rs149502531 HEATR1 Synonymous SNV P172P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.42 78987 chr15 74421336 74421336 C A rs80172572 LOC283731 0 0 0.051 0 0 0 0 15 0 0 1 0 20.5 78988 chr1 233121884 233121884 T C rs41304133 PCNX2 Nonsynonymous SNV N2065S 0.027 0.013 0.027 6 32 5 0.015 8 0 0 1 0 23.7 78989 chr1 41228718 41228718 G A rs559306902 NFYC Synonymous SNV P202P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 78990 chr15 75913260 75913260 G A rs78680460 SNUPN Nonsynonymous SNV R45W 0.002 0 0.017 0 2 0 0 5 0 0 0 0 25.7 78991 chr20 17950556 17950558 TTC - rs766468409 MGME1 S19del 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 78992 chr15 78475108 78475108 T A rs146047218 ACSBG1 Nonsynonymous SNV H224L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.1 78993 chr1 42896441 42896441 C A rs41301052 ZMYND12 Nonsynonymous SNV S245I 0.014 0.01 0.01 7 17 4 0.018 3 0 0 0 0 9.019 78994 chr20 18454050 18454050 C T rs36071991 POLR3F Synonymous SNV S47S 0.023 0.031 0.007 17 27 12 0.044 2 0 0 0 0 13.16 78995 chr1 40981008 40981009 TG - rs143142866 EXO5 V265Efs*5 0.002 0 0.003 0 2 0 0 1 0 0 0 0 78996 chr1 243456711 243456711 T C rs961110687 SDCCAG8 Nonsynonymous SNV I229T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.236 78997 chr1 43777674 43777674 G A rs55657706 TIE1 Nonsynonymous SNV S456N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.13 78998 chr1 41608664 41608664 G A rs150272371 SCMH1 Synonymous SNV L43L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.555 78999 chr15 79224727 79224727 T C rs78155742 CTSH Nonsynonymous SNV K160R 0.02 0.016 0.017 8 23 6 0.021 5 0 0 0 0 20.7 79000 chr15 79271428 79271428 G A rs8038472 LOC100129540 0 0 0.088 0 0 0 0 26 0 0 0 0 4.51 79001 chr11 55110837 55110837 G C rs139771656 OR4A16 Nonsynonymous SNV G54A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.25 79002 chr1 245319691 245319691 G A rs533597039 KIF26B Synonymous SNV E57E 0.005 0.013 0.003 2 6 5 0.005 1 0 0 0 0 7.441 79003 chr1 44467116 44467116 C T rs76354303 SLC6A9 Synonymous SNV P317P 0.016 0.023 0.003 12 19 9 0.031 1 0 0 0 0 Benign 15.08 79004 chr1 42896432 42896432 G T rs143931631 ZMYND12 Stop gain S248X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 79005 chr1 45189817 45189817 G A rs75696348 ARMH1 Nonsynonymous SNV V250I 0.011 0.01 0.037 8 13 4 0.021 11 0 0 0 0 Benign 4.655 79006 chr15 83499472 83499472 C T rs139061517 WHAMM Nonsynonymous SNV P588L 0.008 0.01 0.017 2 9 4 0.005 5 0 0 0 0 Benign 2.265 79007 chr21 33726326 33726326 G A rs915529 URB1 Synonymous SNV L778L 0.011 0.013 0.027 7 13 5 0.018 8 0 0 0 0 10.54 79008 chr20 20144850 20144850 A G rs1024622176 CFAP61 Nonsynonymous SNV I395V 0 0.003 0 5 0 1 0.013 0 0 0 0 0 22.2 79009 chr20 20270952 20270952 C A rs115175415 CFAP61 Nonsynonymous SNV L1045I 0.009 0.01 0.007 1 10 4 0.003 2 0 0 0 0 29.9 79010 chr21 31797765 31797765 T G KRTAP13-3 Synonymous SNV R156R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.81 79011 chr1 43851845 43851845 C T rs748473000 MED8 Synonymous SNV V93V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 79012 chr21 34787294 34787294 C G rs4986958 IFNGR2 Nonsynonymous SNV T58R 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Benign 24.1 79013 chr11 55999969 55999969 A C rs144436864 OR5T2 Synonymous SNV T231T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 79014 chr1 241031899 241031899 C A rs34824344 RGS7 Synonymous SNV V146V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.44 79015 chr21 33063123 33063123 G A rs985048115 SCAF4 Synonymous SNV D609D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.645 79016 chr1 2415951 2415951 T C rs140232208 PLCH2 Nonsynonymous SNV M210T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.63 79017 chr21 34960843 34960843 C G rs2015314 DONSON Synonymous SNV P35P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.56 79018 chr20 23066473 23066473 C T rs373436360 CD93 Synonymous SNV G119G 0.006 0.01 0 0 7 4 0 0 2 1 0 0 10.93 79019 chr1 247719769 247719769 G A rs56043070 GCSAML 0.052 0.057 0.088 17 61 22 0.044 26 1 2 1 0 17.96 79020 chr1 242023898 242023898 A G rs4149909 EXO1 Nonsynonymous SNV N279S 0.013 0.016 0.048 3 15 6 0.008 14 0 0 0 0 26.9 79021 chr1 44687236 44687236 C T rs144731998 ERI3 Synonymous SNV P258P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 79022 chr21 35895893 35895893 C T rs377673728 RCAN1 Nonsynonymous SNV R42K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.2 79023 chr20 2464065 2464065 C T rs145914187 ZNF343 Synonymous SNV T424T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.55 79024 chr21 37417997 37417997 G A rs79501672 SETD4 Synonymous SNV T203T 0.009 0.013 0.003 6 10 5 0.015 1 0 0 0 0 13.52 79025 chr11 6235784 6235784 T C rs755782401 FAM160A2 Nonsynonymous SNV N805S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.3 79026 chr21 37833931 37833931 C T rs117560775 CLDN14 Synonymous SNV T21T 0.031 0.021 0.024 9 36 8 0.023 7 0 0 0 0 Benign/Likely benign 14.44 79027 chr1 244218432 244218432 C T rs373255382 ZBTB18 Synonymous SNV C443C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.75 79028 chr15 89386723 89386723 G T ACAN Nonsynonymous SNV A299S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 79029 chr20 29977000 29977000 A C rs149638804 DEFB119 Nonsynonymous SNV L31W 0.01 0.013 0.014 6 12 5 0.015 4 1 0 0 0 25 79030 chr21 38117572 38117572 T C rs373865332 SIM2 X571Q 0.002 0 0 0 2 0 0 0 0 0 0 0 7.083 79031 chr1 53542978 53542978 C T rs756894143 PODN Nonsynonymous SNV P233L 0.001 0 0 0 1 0 0 0 0 0 0 0 29 79032 chr15 89424590 89424590 C T rs768513896 HAPLN3 Nonsynonymous SNV R164Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 79033 chr20 30556444 30556444 G C rs758197159 XKR7 Nonsynonymous SNV E156Q 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.058 79034 chr20 31494663 31494663 G A rs369917049 EFCAB8 Nonsynonymous SNV D391N 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 25.8 79035 chr20 31600646 31600646 C G rs943910365 BPIFB2 Nonsynonymous SNV L81V 0.003 0.013 0 0 3 5 0 0 0 0 0 0 18.79 79036 chr15 90785056 90785056 C T GDPGP1 Nonsynonymous SNV L306F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 79037 chr15 90794098 90794098 G A rs147662440 TTLL13P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 79038 chr1 26671807 26671807 G C rs200925172 CRYBG2 Nonsynonymous SNV Q448E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.964 79039 chr21 44485527 44485527 G A rs2298758 CBS, CBSL Synonymous SNV N107N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.01 79040 chr20 35262972 35262972 C T rs372907958 SLA2 Nonsynonymous SNV V38M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 79041 chr21 44515560 44515560 G A U2AF1, U2AF1L5 Synonymous SNV N112N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 79042 chr20 36560190 36560190 C T rs146022041 VSTM2L Nonsynonymous SNV A92V 0.019 0.029 0.027 9 22 11 0.023 8 0 1 0 0 23.2 79043 chr21 45548501 45548501 C T rs769807265 LOC102724159, PWP2 Nonsynonymous SNV S860L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 79044 chr16 10524755 10524755 A T ATF7IP2 Nonsynonymous SNV Q93L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 79045 chr11 57464253 57464253 G A rs150928534 ZDHHC5 Nonsynonymous SNV D344N 0.014 0.01 0.027 11 16 4 0.028 8 0 0 0 0 21.3 79046 chr11 57512315 57512315 G A rs756881265 BTBD18 Nonsynonymous SNV P477L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 79047 chr20 36854106 36854106 G T rs140170793 KIAA1755 Synonymous SNV P710P 0.003 0.013 0.003 1 3 5 0.003 1 0 0 0 0 5.83 79048 chr20 36859627 36859627 C G rs117470471 KIAA1755 Synonymous SNV L616L 0.003 0.013 0.003 1 3 5 0.003 1 0 0 0 0 2.109 79049 chr16 1115495 1115495 T C rs213659 SSTR5-AS1 0 0 0.201 0 0 0 0 59 0 0 10 0 2.146 79050 chr16 1116213 1116213 G A rs596501 SSTR5-AS1 0 0 0.17 0 0 0 0 50 0 0 10 0 0.232 79051 chr1 32138045 32138045 G A rs2228553 COL16A1 Nonsynonymous SNV P1026L 0.007 0.013 0.01 9 8 5 0.023 3 0 0 0 0 22.7 79052 chr21 46067210 46067210 C T rs73909210 KRTAP10-11 Nonsynonymous SNV R279C 0.02 0.029 0.031 8 23 11 0.021 9 0 0 0 0 25 79053 chr20 36982805 36982805 G A rs139250125 LBP Nonsynonymous SNV A164T 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 0.743 79054 chr1 249106348 249106348 G C rs202116012 SH3BP5L Synonymous SNV A192A 0.009 0.008 0.007 5 10 3 0.013 2 0 0 0 0 9.62 79055 chr21 46191400 46191400 G A rs140029290 UBE2G2 Synonymous SNV P60P 0.012 0.013 0.014 3 14 5 0.008 4 0 0 0 0 6.925 79056 chr21 46233866 46233866 T C rs9981327 SUMO3 Nonsynonymous SNV S59G 0.015 0.016 0.02 5 18 6 0.013 6 0 0 0 0 3.194 79057 chr21 46271377 46271377 G T rs143718199 PTTG1IP Nonsynonymous SNV L112I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 5.426 79058 chr1 6530630 6530630 G A rs370515061 PLEKHG5 Nonsynonymous SNV A539V 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Uncertain significance 25.2 79059 chr1 26189517 26189517 C T rs6689014 PAQR7 Nonsynonymous SNV G272R 0.013 0.003 0.01 10 15 1 0.026 3 0 0 0 0 28.9 79060 chr1 26317303 26317303 C T rs148837170 PAFAH2 Nonsynonymous SNV G2E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 33 79061 chr1 26349187 26349187 C T rs141728988 EXTL1 Nonsynonymous SNV S17F 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 14.85 79062 chr16 13297254 13297254 C G rs112510263 SHISA9 Nonsynonymous SNV A232G 0.011 0.003 0.007 1 13 1 0.003 2 0 0 0 0 14.6 79063 chr21 46951468 46951468 G A rs9282853 SLC19A1 Synonymous SNV L222L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 2.096 79064 chr21 46932127 46932127 T G rs200871316 COL18A1 Nonsynonymous SNV S1456A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 79065 chr21 47420251 47420251 G A rs367650141 COL6A1 Nonsynonymous SNV E595K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 35 79066 chr16 1420341 1420341 C T rs138288642 UNKL Nonsynonymous SNV G459S 0.03 0.018 0.014 9 35 7 0.023 4 0 0 0 0 9.969 79067 chr21 47532093 47532093 G A rs141703710 COL6A2 Nonsynonymous SNV E106K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 12.2 79068 chr1 6638926 6638926 G A rs79957690 TAS1R1 Nonsynonymous SNV R349H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 13.39 79069 chr1 6639392 6639392 G A rs34857011 TAS1R1 Synonymous SNV E504E 0.003 0.003 0.007 0 3 1 0 2 0 0 1 0 7.47 79070 chr1 3407101 3407101 C T rs12404355 MEGF6 Synonymous SNV A1539A 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 12.22 79071 chr11 12281517 12281517 T C MICAL2 Nonsynonymous SNV M889T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 79072 chr20 4229375 4229375 G T rs61759853 ADRA1D Nonsynonymous SNV A77E 0.005 0.013 0.003 5 6 5 0.013 1 0 0 0 0 4.115 79073 chr1 6694099 6694099 A C rs80089628 THAP3 Nonsynonymous SNV E160A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.224 79074 chr1 65113552 65113552 G A rs145432811 CACHD1 Nonsynonymous SNV G113S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 19.94 79075 chr1 34663386 34663386 C T rs758352765 C1orf94 Nonsynonymous SNV P294L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 79076 chr1 67558870 67558874 TCATT - rs200104842 C1orf141 M340Cfs*7 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 79077 chr16 1550409 1550409 C T rs147777945 TELO2 Nonsynonymous SNV P355L 0.01 0 0.014 3 12 0 0.008 4 0 0 0 0 10.61 79078 chr1 27180253 27180253 C T rs574730349 ZDHHC18 Synonymous SNV T362T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 19.36 79079 chr21 47831751 47831751 C G rs748967350 PCNT Nonsynonymous SNV L1804V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 79080 chr1 67147935 67147935 C T rs761270779 SGIP1 Nonsynonymous SNV P404S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 79081 chr1 27224190 27224190 G A rs142878014 GPATCH3 Nonsynonymous SNV R160W 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 28 79082 chr16 15931893 15931893 T G rs147447269 MYH11 Nonsynonymous SNV K73Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 79083 chr11 60785843 60785843 G A rs147448427 CD6 Synonymous SNV S640S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 11.83 79084 chr1 36557528 36557528 C G ADPRHL2 Synonymous SNV A178A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.5 79085 chr11 60882546 60882546 G - CD5 L26Sfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 79086 chr11 60892605 60892605 C T rs34209302 CD5 Nonsynonymous SNV H404Y 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 0.057 79087 chr1 74797201 74797201 T C rs6685961 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV L171S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 79088 chr22 17589768 17589768 G C IL17RA Synonymous SNV L519L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 79089 chr1 68910315 68910315 C T rs61752878 RPE65 Nonsynonymous SNV A132T 0.01 0.008 0.003 2 12 3 0.005 1 1 0 0 0 Conflicting interpretations of pathogenicity 22.2 79090 chr16 17294348 17294348 G A rs35488326 XYLT1 Synonymous SNV H359H 0.026 0.016 0.044 4 31 6 0.01 13 0 1 0 0 11.94 79091 chr1 38184346 38184346 C T rs375070442 EPHA10 Nonsynonymous SNV E967K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 79092 chr1 31441316 31441316 T C rs202191174 PUM1 Synonymous SNV Q510Q 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 0.383 79093 chr1 38444478 38444478 C T rs770904045 SF3A3 Synonymous SNV Q230Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.43 79094 chr20 44839056 44839056 G A rs200454892 CDH22 Synonymous SNV P392P 0.008 0.021 0.01 0 9 8 0 3 0 0 0 0 12.82 79095 chr22 19776258 19776258 - GCTGATCC GNB1L Frameshift insertion L320Gfs*36 0 0.003 0 0 0 1 0 0 0 0 0 0 79096 chr1 32266083 32266083 T C rs760324320 SPOCD1 Nonsynonymous SNV R14G 0.007 0.005 0 0 8 2 0 0 0 0 0 0 10.34 79097 chr11 62380931 62380931 C A rs199757012 ROM1 Nonsynonymous SNV P60T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.157 79098 chr1 32280191 32280191 G A rs776510813 SPOCD1 Synonymous SNV D248D 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 2.751 79099 chr11 62381076 62381076 C T rs146358003 ROM1 Nonsynonymous SNV T108M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 79100 chr1 3329229 3329229 G A rs371654192 PRDM16 Nonsynonymous SNV R823H 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Benign/Likely benign 24.8 79101 chr16 2049527 2049527 G A rs370015106 ZNF598 Nonsynonymous SNV P675S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 1.609 79102 chr1 84679970 84679970 G A rs757549113 PRKACB Synonymous SNV T287T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 79103 chr22 19929302 19929302 G T TXNRD2 Synonymous SNV R9R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 79104 chr20 50140187 50140187 G T rs377414796 NFATC2 Nonsynonymous SNV P178H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 79105 chr22 22162126 22162126 A G rs3729910 MAPK1 Synonymous SNV Y43Y 0.074 0.081 0.058 22 87 31 0.056 17 2 0 2 0 3.27 79106 chr22 22326279 22326279 G A rs41283235 TOP3B Synonymous SNV C118C 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Benign 13.25 79107 chr20 50305661 50305661 C T rs753524524 ATP9A Synonymous SNV P247P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 18.08 79108 chr22 22842484 22842484 C T rs57235089 ZNF280B Nonsynonymous SNV V414I 0.019 0.021 0.017 4 22 8 0.01 5 1 0 0 0 0.002 79109 chr22 21133923 21133923 T C SERPIND1 Nonsynonymous SNV V108A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 79110 chr20 52192408 52192408 C T rs34495111 ZNF217 Synonymous SNV A965A 0.022 0.036 0.024 14 26 14 0.036 7 0 0 0 0 13.48 79111 chr20 52193368 52193368 C T rs3748503 ZNF217 Synonymous SNV A645A 0.022 0.034 0.024 14 26 13 0.036 7 0 0 0 0 13.63 79112 chr20 52193660 52193660 G A rs35720349 ZNF217 Nonsynonymous SNV T548I 0.012 0.013 0.007 6 14 5 0.015 2 0 0 0 0 2.903 79113 chr20 52193698 52193698 G A rs7270855 ZNF217 Synonymous SNV N535N 0.02 0.021 0.01 7 23 8 0.018 3 0 0 0 0 2.347 79114 chr1 3648066 3648066 T C rs143442213 TP73 Nonsynonymous SNV F410L 0.007 0 0 4 8 0 0.01 0 0 0 0 0 0.009 79115 chr1 86894231 86894231 C T rs55736627 CLCA2 Nonsynonymous SNV T152I 0.008 0.013 0.003 3 9 5 0.008 1 0 1 0 0 15.17 79116 chr16 2282198 2282198 G T rs143442513 E4F1 Nonsynonymous SNV V148L 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 26.1 79117 chr16 23403795 23403795 C T rs142744907 COG7 Synonymous SNV S684S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.08 79118 chr16 23637715 23637715 G A rs45568339 PALB2 Nonsynonymous SNV P864S 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign/Likely benign 18.44 79119 chr1 89352956 89352956 C T GTF2B Nonsynonymous SNV G38S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 79120 chr22 24718408 24718408 G A rs55723436 SPECC1L Nonsynonymous SNV R487H 0.006 0.013 0.007 3 7 5 0.008 2 0 0 0 0 Benign/Likely benign 32 79121 chr22 25251372 25251372 C T rs56123612 SGSM1 Nonsynonymous SNV S215L 0.006 0.013 0.007 5 7 5 0.013 2 0 0 0 0 33 79122 chr1 46206706 46206706 T C IPP Synonymous SNV E197E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.258 79123 chr16 27459947 27459947 C G IL21R Nonsynonymous SNV H320Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.694 79124 chr16 27475756 27475756 G A rs139963948 GTF3C1 Synonymous SNV T1919T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 79125 chr16 27777737 27777737 G A rs372850881 KIAA0556 Nonsynonymous SNV S1306N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 79126 chr11 35640484 35640484 G A rs143163205 FJX1 Synonymous SNV E100E 0.012 0.018 0.01 8 14 7 0.021 3 1 0 1 0 0.022 79127 chr16 2848516 2848516 C T rs143531033 PRSS41 Synonymous SNV L11L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.105 79128 chr16 2849542 2849542 C T rs6500613 PRSS41 Synonymous SNV T184T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 10.54 79129 chr20 5903188 5903188 G T rs142077939 CHGB Nonsynonymous SNV R133L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.78 79130 chr22 24574054 24574054 G A rs144524781 CABIN1 Nonsynonymous SNV V2135M 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Likely benign 29.4 79131 chr20 590600 590600 C T rs113965101 TCF15 Synonymous SNV A94A 0.025 0.023 0.024 12 29 9 0.031 7 0 0 0 0 19.06 79132 chr1 47904083 47904124 CGCAGCGGGGAGCCCGGGGCCAGGCGCCGCGGCGGCCCGCGG - rs773498235 FOXD2 S96_G109del 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 79133 chr1 906122 906122 C T rs41285812 PLEKHN1 Synonymous SNV H156H 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 13.81 79134 chr20 60847261 60847261 C T rs370529394 OSBPL2 Synonymous SNV H21H 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 10.83 79135 chr20 60888201 60888201 G A rs117076754 LAMA5 Synonymous SNV F2966F 0.005 0.016 0 6 6 6 0.015 0 0 0 0 0 Benign 7.703 79136 chr22 29682930 29682930 G A rs146607451 EWSR1 Synonymous SNV P144P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.4 79137 chr20 60898720 60898720 C T rs146904037 LAMA5 Synonymous SNV A1952A 0.029 0.042 0.024 18 34 16 0.046 7 0 0 0 1 15.12 79138 chr22 27019264 27019264 G A rs35520672 CRYBA4 Nonsynonymous SNV V36M 0.037 0.008 0.024 13 43 3 0.033 7 1 0 0 1 Benign 27.5 79139 chr16 30544061 30544061 G A rs62056326 ZNF747 Nonsynonymous SNV A252V 0 0.008 0.01 0 0 3 0 3 0 0 0 0 17.84 79140 chr11 47660287 47660287 T C rs79167377 MTCH2 Synonymous SNV G81G 0 0.01 0 0 0 4 0 0 0 0 0 0 7.352 79141 chr11 47660294 47660294 C T rs796176528 MTCH2 Nonsynonymous SNV C79Y 0 0.01 0 0 0 4 0 0 0 0 0 0 29.9 79142 chr11 47660295 47660295 A G rs796758665 MTCH2 Nonsynonymous SNV C79R 0 0.01 0 0 0 4 0 0 0 0 0 0 26.6 79143 chr16 30680860 30680860 G A rs138097531 FBRS Nonsynonymous SNV S946N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 79144 chr11 47660301 47660301 T A rs796923130 MTCH2 Stop gain R77X 0 0.008 0 0 0 3 0 0 0 0 0 0 35 79145 chr22 29669828 29669828 A G rs139048680 EWSR1 Synonymous SNV A67A 0.007 0 0 1 8 0 0.003 0 0 0 0 0 6.857 79146 chr1 43917888 43917888 C G rs41270373 HYI Synonymous SNV G138G 0.026 0.018 0.02 5 30 7 0.013 6 1 0 0 0 13.29 79147 chr16 30958054 30958054 A C rs773308187 FBXL19 Nonsynonymous SNV Q564P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 79148 chr1 55070089 55070089 C T rs34148246 ACOT11 Nonsynonymous SNV S408L 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 26.2 79149 chr1 94508360 94508360 G A rs570745701 ABCA4 Synonymous SNV Y1095Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.139 79150 chr22 31655881 31655881 G A rs150717376 LIMK2 Synonymous SNV K102K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.52 79151 chr1 95492794 95492794 C T rs201781289 ALG14 Nonsynonymous SNV R104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 79152 chr16 31235627 31235627 G T rs763062275 TRIM72 Nonsynonymous SNV D329Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 79153 chr1 97981421 97981421 C T rs1801158 DPYD Nonsynonymous SNV S534N 0.017 0.018 0.041 3 20 7 0.008 12 0 0 1 0 Conflicting interpretations of pathogenicity 23.4 79154 chr11 68668050 68668050 T C rs754802573 MRPL21 Nonsynonymous SNV R38G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.483 79155 chr1 981376 981376 C T rs199593375 AGRN Nonsynonymous SNV R905C 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Uncertain significance 20.9 79156 chr1 55571848 55571848 G A rs375359374 USP24 Synonymous SNV A1617A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.95 79157 chr1 99156634 99156634 T A rs35296149 SNX7 Nonsynonymous SNV S123T 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 4.611 79158 chr20 62195814 62195814 C T rs201300001 HELZ2 Nonsynonymous SNV R885H 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 12.95 79159 chr1 59002282 59002282 A C rs17117699 OMA1 Nonsynonymous SNV F211C 0.004 0.005 0 7 5 2 0.018 0 0 0 0 0 27 79160 chr1 59004617 59004617 G A rs17117720 OMA1 Nonsynonymous SNV P117L 0.004 0.005 0 7 5 2 0.018 0 0 0 0 0 9.94 79161 chr22 32625210 32625210 C T rs5998322 SLC5A4 Synonymous SNV A417A 0.03 0.036 0.031 10 35 14 0.026 9 0 1 0 0 15.26 79162 chr11 69063527 69063527 C T rs150423809 MYEOV Nonsynonymous SNV R146C 0.003 0 0.01 0 4 0 0 3 0 0 0 0 0.359 79163 chr11 69063726 69063726 G T rs142581206 MYEOV Nonsynonymous SNV G212V 0.003 0 0.01 0 4 0 0 3 0 0 0 0 0.237 79164 chr1 6142329 6142329 C T rs2229004 KCNAB2 Synonymous SNV A25A 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 17.73 79165 chr20 1286372 1286372 C T rs770851087 SNPH Nonsynonymous SNV R387W 0.005 0 0 2 6 0 0.005 0 0 0 0 0 27 79166 chr16 4254550 4254550 T C rs146761878 SRL Synonymous SNV P49P 0.008 0.008 0.017 5 9 3 0.013 5 0 0 0 0 0.423 79167 chr22 38055311 38055311 G A rs371660575 PDXP Synonymous SNV V174V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.071 79168 chr11 71155078 71155078 C T rs541593878 DHCR7 Synonymous SNV R94R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.37 79169 chr11 71725797 71725797 G A rs61756008 NUMA1 Nonsynonymous SNV R918C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.26 79170 chr11 71810211 71810211 G A LAMTOR1 Nonsynonymous SNV S45F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 79171 chr1 52867839 52867839 C G rs3087473 ORC1 Nonsynonymous SNV R19S 0.007 0 0 1 8 0 0.003 0 0 0 0 0 Benign/Likely benign 20.4 79172 chr20 9434098 9434100 GAA - rs765345911 PLCB4 K986del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 79173 chr11 73811639 73811639 C T rs143196767 C2CD3 Nonsynonymous SNV R888Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 79174 chr16 4902950 4902950 C G rs148736252 UBN1 Nonsynonymous SNV S11C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 79175 chr1 6354955 6354955 G A rs1804843 ACOT7 Synonymous SNV D266D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.419 79176 chr1 63789483 63789485 ATG - rs745544695 FOXD3 M253del 0 0 0 1 0 0 0.003 0 0 0 0 0 79177 chr22 37769636 37769636 C T rs145768846 ELFN2 Nonsynonymous SNV V647M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 79178 chr21 16015325 16015325 C T rs149223740 LOC388813 Nonsynonymous SNV V24M 0.008 0.013 0 1 9 5 0.003 0 0 0 0 0 4.262 79179 chr21 16337111 16337111 G A rs61750207 NRIP1 Nonsynonymous SNV R1135C 0.026 0.023 0.02 7 31 9 0.018 6 1 0 0 0 Benign 20.2 79180 chr22 39712770 39712770 T C rs11547987 RPL3 Nonsynonymous SNV K148E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 79181 chr11 74952733 74952733 C G rs149491762 TPBGL Nonsynonymous SNV D213E 0.007 0.005 0 6 8 2 0.015 0 0 0 0 0 18.77 79182 chr20 17705793 17705793 T C rs1133096 BANF2 Synonymous SNV N41N 0.007 0 0.02 4 8 0 0.01 6 0 0 0 0 5.423 79183 chr11 75298327 75298327 C T rs141659980 MAP6 Nonsynonymous SNV R740H 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Likely benign 17.95 79184 chr1 55076138 55076166 CACTCCACATTCAGACCGTCATCCCCAGG - rs373739034 FAM151A P335Afs*4 0.048 0.029 0.041 15 56 11 0.038 12 0 0 0 1 79185 chr16 52473331 52473331 G A rs200998313 TOX3 Nonsynonymous SNV R513C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 24.6 79186 chr1 6631157 6631157 T C rs115823881 TAS1R1 Nonsynonymous SNV I127T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.29 79187 chr22 42076303 42076303 C T SNU13 Synonymous SNV L23L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.84 79188 chr1 6634693 6634693 T C rs112341995 TAS1R1 Synonymous SNV I167I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.371 79189 chr1 6634764 6634764 A G rs61744700 TAS1R1 Nonsynonymous SNV N191S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.269 79190 chr1 6634901 6634901 A C rs61746706 TAS1R1 Nonsynonymous SNV I237L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.58 79191 chr16 53499374 53499374 G C rs76818213 RBL2 Nonsynonymous SNV E575Q 0.026 0.023 0.02 12 30 9 0.031 6 0 0 0 0 25.7 79192 chr1 6636662 6636662 T C rs114597256 TAS1R1 Nonsynonymous SNV I229T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27 79193 chr16 553035 553035 G A rs143162766 RAB11FIP3 Nonsynonymous SNV E135K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.9 79194 chr22 40045792 40045792 G A rs778662221 CACNA1I Synonymous SNV A583A 0.006 0.013 0 0 7 5 0 0 0 0 0 0 7.671 79195 chr16 56652671 56652671 A G rs56169224 MT1L 0 0 0.102 0 0 0 0 30 0 0 5 0 0.281 79196 chr1 74670268 74670268 G A rs142249154 FPGT Synonymous SNV E192E 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 6.38 79197 chr20 210151 210151 T C rs1040924762 DEFB129 Synonymous SNV H97H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.003 79198 chr11 82705102 82705102 C T RAB30 Synonymous SNV E52E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 79199 chr20 21376735 21376735 C T rs765056337 NKX2-4 Synonymous SNV T293T 0.004 0 0 0 5 0 0 0 0 0 0 0 15 79200 chr20 21686445 21686445 C T rs867196272 PAX1 Nonsynonymous SNV A32V 0.007 0 0 1 8 0 0.003 0 0 0 0 0 20.8 79201 chr16 57065346 57065346 G A rs770765455 NLRC5 Synonymous SNV P816P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.136 79202 chr22 42262938 42262938 C T rs145442703 SREBF2 Synonymous SNV S64S 0.008 0.018 0 1 9 7 0.003 0 0 0 0 0 11.97 79203 chr21 34166209 34166209 A G C21orf62 Nonsynonymous SNV F175S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 79204 chr21 34925177 34925177 C T rs191169903 SON Nonsynonymous SNV P1214S 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 22.8 79205 chr11 88042459 88042459 A T CTSC Nonsynonymous SNV D171E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 79206 chr11 92495036 92495036 T C rs72962460 FAT3 Synonymous SNV D1228D 0.038 0.023 0.031 15 45 9 0.038 9 0 0 0 1 1.939 79207 chr21 35821680 35821680 C T rs1805128 KCNE1, KCNE1B Nonsynonymous SNV D85N 0.004 0.016 0 2 5 6 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity, other, risk factor 21.8 79208 chr22 46682993 46682993 C T rs141331617 TTC38 Synonymous SNV N286N 0.013 0.016 0.017 9 15 6 0.023 5 0 0 0 0 8.855 79209 chr22 43950949 43950949 G A rs34344550 EFCAB6 Nonsynonymous SNV P998S 0.021 0.016 0.007 9 25 6 0.023 2 0 0 0 0 23.9 79210 chr22 43996050 43996050 T C rs376957490 EFCAB6 Synonymous SNV A773A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.029 79211 chr22 44028087 44028087 C T rs145144112 EFCAB6 Synonymous SNV P558P 0.009 0.013 0.007 7 11 5 0.018 2 0 0 0 0 10.61 79212 chr1 63307121 63307121 A G rs138011372 ATG4C Nonsynonymous SNV K371R 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 22.9 79213 chr22 44131803 44131803 C T rs146629974 EFCAB6 Nonsynonymous SNV R41Q 0.013 0.023 0.01 7 15 9 0.018 3 0 0 0 0 5.957 79214 chr22 44168935 44168935 A G rs146421624 EFCAB6 Nonsynonymous SNV I63T 0.009 0.01 0.007 7 10 4 0.018 2 0 0 0 0 26.3 79215 chr20 30818850 30818850 C T rs17268666 POFUT1 Nonsynonymous SNV L322F 0.068 0.06 0.054 19 80 23 0.049 16 3 1 1 0 Benign 12.91 79216 chr22 50488562 50488562 C T rs184510799 TTLL8 Nonsynonymous SNV E92K 0.014 0.008 0.003 3 16 3 0.008 1 0 0 0 0 6.019 79217 chr11 96117520 96117520 C T rs143022124 CCDC82 Nonsynonymous SNV S131N 0.009 0.018 0.01 4 10 7 0.01 3 0 0 0 0 0.048 79218 chr16 68057008 68057008 A C rs200017416 DDX28 Nonsynonymous SNV L33R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 79219 chr11 101342931 101342931 C A rs145077205 TRPC6 Synonymous SNV T714T 0.009 0.021 0.007 6 11 8 0.015 2 0 0 0 0 Benign 17.05 79220 chr16 69352811 69352811 C T rs186545587 VPS4A Synonymous SNV V143V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 79221 chr22 46318952 46318952 G A rs542397635 WNT7B Synonymous SNV C278C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.612 79222 chr11 102495959 102495959 G A rs61730847 MMP20 Nonsynonymous SNV P31L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.76 79223 chr22 50900680 50900680 C T rs368432657 SBF1 Nonsynonymous SNV G785R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 79224 chr16 70286631 70286631 T A rs35744709 AARS1 Nonsynonymous SNV K967M 0.018 0.029 0.034 4 21 11 0.01 10 1 0 0 0 Benign/Likely benign 27.3 79225 chr20 3218607 3218607 C T rs771829953 SLC4A11 Nonsynonymous SNV R35Q 0.003 0 0 0 3 0 0 0 0 0 0 0 5.67 79226 chr16 70502787 70502787 C T rs753351332 FCSK Synonymous SNV A233A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 79227 chr22 46761267 46761267 G A rs138188369 CELSR1 Synonymous SNV S2805S 0.011 0.008 0.017 6 13 3 0.015 5 0 0 0 0 Benign 5.959 79228 chr20 32251494 32251494 - TAC rs761908441 C20orf144 L99_R100insL 0.005 0 0 0 6 0 0 0 0 0 0 0 79229 chr1 9009414 9009414 C T rs58800854 CA6 Nonsynonymous SNV R58W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.3 79230 chr20 36631137 36631137 G A rs201740685 TTI1 Nonsynonymous SNV R849C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.7 79231 chr22 46795716 46795716 G A rs144157544 CELSR1 Synonymous SNV T1770T 0.011 0.008 0.017 6 13 3 0.015 5 0 0 0 0 Benign 8.423 79232 chr22 46860090 46860090 C T rs200980049 CELSR1 Nonsynonymous SNV A1233T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 14.24 79233 chr16 71660348 71660348 C G rs76434914 MARVELD3 Nonsynonymous SNV N72K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.84 79234 chr11 103090692 103090692 G A rs199568537 DYNC2H1 Nonsynonymous SNV A2961T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 25.8 79235 chr20 33875365 33875365 G A FAM83C Nonsynonymous SNV P406L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 79236 chr22 50278584 50278584 C T rs146411541 ZBED4 Nonsynonymous SNV A425V 0.014 0.008 0.027 6 16 3 0.015 8 1 0 0 0 0.035 79237 chr21 44317156 44317156 A C rs141922962 NDUFV3 Nonsynonymous SNV K56N 0.014 0.023 0.014 7 16 9 0.018 4 0 1 0 0 Likely benign 25.9 79238 chr20 37547207 37547207 G A rs34350985 PPP1R16B Synonymous SNV S492S 0.002 0 0.014 4 2 0 0.01 4 0 0 0 0 6.223 79239 chr11 104878040 104878040 - T rs112680102 CASP5 Frameshift insertion T10Nfs*3 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 79240 chr1 7724562 7724562 C T rs144242373 CAMTA1 Nonsynonymous SNV S622L 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Likely benign 24 79241 chr21 45547962 45547962 C T rs146033470 LOC102724159, PWP2 Nonsynonymous SNV L764F 0.002 0.01 0 3 2 4 0.008 0 0 1 0 0 24 79242 chr16 72831358 72831369 TTGTTGTTGTTG - rs768821499 ZFHX3 Q824_Q827del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 79243 chr20 3870023 3870023 G A rs142832849 PANK2 Synonymous SNV R92R 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.23 79244 chr21 45746102 45746102 T C rs17850433 PFKL Nonsynonymous SNV V717A 0.008 0.023 0.017 6 9 9 0.015 5 0 1 0 0 Benign 19.24 79245 chr11 108384021 108384021 G C rs76626971 EXPH5 Nonsynonymous SNV S550C 0.01 0.008 0.01 0 12 3 0 3 0 0 0 0 19.47 79246 chr20 3672123 3672123 G A rs35702208 SIGLEC1 Synonymous SNV D1485D 0.003 0 0.014 0 3 0 0 4 0 0 0 0 2.332 79247 chr20 39978448 39978448 G C rs542110634 LPIN3 Nonsynonymous SNV D226H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.5 79248 chr22 50728518 50728518 G A rs201610707 PLXNB2 Nonsynonymous SNV R166C 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24.9 79249 chr1 94463648 94463648 G A rs61751379 ABCA4 Synonymous SNV I2166I 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 79250 chr2 105858993 105858993 C G rs140158310 GPR45 Synonymous SNV A226A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.288 79251 chr20 368683 368683 C T rs200422001 TRIB3 Nonsynonymous SNV A10V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 6.062 79252 chr11 113144387 113144387 C A rs142447171 NCAM1-AS1 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.72 79253 chr21 47330839 47330839 G A rs376886190 PCBP3 Synonymous SNV V165V 0.002 0.008 0 3 2 3 0.008 0 0 1 0 0 9.875 79254 chr20 43933348 43933348 G A rs2233091 MATN4 Stop gain Q55X 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 34 79255 chr20 391167 391167 G A rs369328889 RBCK1 Synonymous SNV L93L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.862 79256 chr20 40045231 40045231 G C rs3817893 CHD6 Nonsynonymous SNV H2161Q 0.02 0.013 0.007 3 23 5 0.008 2 0 0 0 0 0.205 79257 chr2 101609935 101609935 A G rs777430062 NPAS2 Synonymous SNV P746P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 0.767 79258 chr20 40074369 40074369 C T rs146549815 CHD6 Synonymous SNV E1271E 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 Benign 14 79259 chr2 111744738 111744738 A C rs116596490 ACOXL Synonymous SNV P371P 0.018 0.013 0.007 4 21 5 0.01 2 0 0 0 0 0.158 79260 chr20 40161979 40161979 T A rs143534571 CHD6 Synonymous SNV G88G 0.013 0.01 0 1 15 4 0.003 0 0 0 0 0 Benign 8.824 79261 chr20 11904027 11904027 C T rs200299747 BTBD3 Nonsynonymous SNV L277F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 79262 chr11 115080312 115080323 TGGTGGTGGTGG - rs748657345 CADM1 T350_T353del 0.001 0 0 0 1 0 0 0 0 0 0 0 79263 chr16 816739 816739 C T rs142393132 MSLN Synonymous SNV T442T 0 0 0.007 0 0 0 0 2 0 0 0 0 9.982 79264 chr20 13765897 13765897 G C rs139219896 NDUFAF5 Synonymous SNV R61R 0.006 0.013 0.014 3 7 5 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 11.69 79265 chr11 117023199 117023199 G T rs150351376 PAFAH1B2 Synonymous SNV P12P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 8.412 79266 chr20 13782194 13782194 C T rs117002283 NDUFAF5 Synonymous SNV L166L 0.012 0.026 0.024 3 14 10 0.008 7 0 1 0 0 Benign 12.3 79267 chr22 18300940 18300940 C T rs138062653 MICAL3 Nonsynonymous SNV R1496Q 0.004 0.01 0 0 5 4 0 0 0 0 0 0 12.07 79268 chr22 18609740 18609740 T C rs760543651 TUBA8 Nonsynonymous SNV I266T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 79269 chr20 44469856 44469856 A G rs370273745 SNX21 Synonymous SNV Q342Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 79270 chr11 118516210 118516210 C T rs201892942 PHLDB1 Synonymous SNV L1039L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 79271 chr22 19132129 19132129 A G rs145246090 ESS2 Nonsynonymous SNV S9P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.226 79272 chr20 48561952 48561952 A T rs143932352 RNF114 Nonsynonymous SNV T109S 0.011 0.01 0 4 13 4 0.01 0 0 0 0 0 5.437 79273 chr2 118583052 118583052 C G rs61755350 DDX18 Synonymous SNV T466T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.03 79274 chr20 45003977 45003977 C T rs41310805 ELMO2 Synonymous SNV R321R 0.015 0.005 0.014 6 18 2 0.015 4 0 0 0 0 15 79275 chr2 111691147 111691147 G A rs3761711 ACOXL Synonymous SNV A329A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 11.21 79276 chr20 45192104 45192104 C A rs368096069 SLC13A3 Synonymous SNV T477T 0.003 0 0 0 4 0 0 0 0 0 0 0 21.6 79277 chr20 1961075 1961076 CA - rs748307861 PDYN W220Gfs*33 0 0 0 3 0 0 0.008 0 0 0 0 0 79278 chr20 50769016 50769016 G C rs147640480 ZFP64 Nonsynonymous SNV T518S 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 3.819 79279 chr22 20780522 20780522 C G rs772315504 SCARF2 Nonsynonymous SNV E586Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.7 79280 chr20 19955634 19955634 G A rs199693970 RIN2 Nonsynonymous SNV S322N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 14.23 79281 chr22 21157528 21157528 C T rs754132032 PI4KA Synonymous SNV P492P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 19.83 79282 chr22 21165311 21165311 T C rs61752248 PI4KA Nonsynonymous SNV I339V 0.029 0.031 0.024 4 34 12 0.01 7 1 0 0 1 22.6 79283 chr2 113940777 113940777 C T rs375265118 PSD4 Synonymous SNV N248N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.539 79284 chr2 128394438 128394438 G A rs763751635 MYO7B Nonsynonymous SNV A2067T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.395 79285 chr1 92187652 92187652 A G rs149079126 TGFBR3 Nonsynonymous SNV M312T 0.015 0.003 0 0 18 1 0 0 0 0 0 0 Benign/Likely benign 12.39 79286 chr22 22300253 22300253 G A rs189969314 PPM1F Synonymous SNV G56G 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 11.89 79287 chr22 22599676 22599676 C T rs11089979 VPREB1 Nonsynonymous SNV S121L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.229 79288 chr20 23383653 23383653 A T NAPB Nonsynonymous SNV F52Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24 79289 chr22 24622656 24622656 C T rs141947400 GGT5 Synonymous SNV K250K 0.016 0.018 0.017 11 19 7 0.028 5 1 0 0 0 12.63 79290 chr1 976775 976777 GTG - AGRN C317_D318delinsY 0.002 0 0 0 2 0 0 0 0 0 0 0 79291 chr20 2634893 2634893 C T rs200822357 SNORD110 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 18.57 79292 chr22 24739498 24739498 G A rs1019913621 SPECC1L-ADORA2A 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 0.117 79293 chr20 30408240 30408240 G C rs748134754 MYLK2 Nonsynonymous SNV D122H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.45 79294 chr11 124135050 124135050 A G rs367786235 OR8G5 Nonsynonymous SNV T110A 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 17.14 79295 chr22 26423087 26423087 C T rs192639023 MYO18B Nonsynonymous SNV R2384W 0.009 0.005 0.007 6 10 2 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.12 79296 chr2 131673496 131673496 T C rs13390659 ARHGEF4 Synonymous SNV F659F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.605 79297 chr16 88964541 88964541 C T rs146556278 CBFA2T3 Synonymous SNV A108A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 79298 chr11 124502020 124502020 A T rs75601279 TBRG1 Synonymous SNV A374A 0.015 0.016 0.014 6 18 6 0.015 4 1 0 0 0 9.652 79299 chr22 28385968 28385968 C A rs1016516249 TTC28 Nonsynonymous SNV A1869S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.72 79300 chr22 29537989 29537989 G A rs117146420 KREMEN1 Synonymous SNV S422S 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 13.1 79301 chr16 89293604 89293604 A G rs1018901738 ZNF778 Nonsynonymous SNV H275R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 79302 chr22 30762035 30762035 A G rs9606721 CCDC157 Nonsynonymous SNV T16A 0.018 0.016 0 4 21 6 0.01 0 0 1 0 0 6.497 79303 chr20 31948180 31948180 G A rs758598698 CDK5RAP1 Nonsynonymous SNV P477S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 79304 chr20 31989359 31989364 GGTCAT - rs529249990 CDK5RAP1 Star tloss M1? 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 79305 chr20 61467598 61467598 T A rs140973451 COL9A3 Synonymous SNV G487G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.897 79306 chr20 1615981 1615981 G A rs41275434 SIRPG Nonsynonymous SNV A338V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.178 79307 chr20 32255934 32255934 A T rs146590788 ACTL10 Nonsynonymous SNV T211S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.7 79308 chr20 32856838 32856838 C A rs36093428 ASIP Synonymous SNV P88P 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 Benign 12.72 79309 chr16 90106525 90106525 T C rs4785767 URAHP 0 0 0.105 0 0 0 0 31 0 0 15 0 1.051 79310 chr11 126160826 126160826 C T rs8177399 TIRAP Nonsynonymous SNV R13W 0.008 0.003 0.007 8 9 1 0.021 2 0 0 0 0 25.6 79311 chr20 61917555 61917555 C T rs527563237 ARFGAP1 Nonsynonymous SNV P353L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.714 79312 chr17 10204957 10204957 C A rs572120351 MYH13 Nonsynonymous SNV A1911S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 79313 chr20 17610604 17610604 C T rs138539631 RRBP1 Synonymous SNV A871A 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Likely benign 6.031 79314 chr20 17639902 17639902 A G rs12480082 RRBP1 Synonymous SNV N417N 0.036 0.026 0.02 14 42 10 0.036 6 0 0 0 0 2.415 79315 chr2 160628367 160628367 C G rs773656295 CD302, LY75-CD302 Nonsynonymous SNV D174H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 79316 chr20 34092583 34092583 A G rs61729984 CEP250 Nonsynonymous SNV H1497R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 1.231 79317 chr22 32014141 32014141 G C rs201208581 SFI1 Nonsynonymous SNV E1130Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.5 79318 chr2 165802159 165802159 A G rs139693718 SLC38A11 Nonsynonymous SNV F47S 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 28 79319 chr11 130275533 130275533 C T rs61753089 ADAMTS8 Nonsynonymous SNV G864S 0.009 0.013 0.014 6 11 5 0.015 4 0 1 0 0 33 79320 chr17 11786941 11786941 C T rs144408069 DNAH9 Synonymous SNV T3615T 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 13.8 79321 chr20 36572542 36572542 A G rs139453151 VSTM2L Nonsynonymous SNV N168D 0 0 0 2 0 0 0.005 0 0 0 0 0 13.38 79322 chr2 167262494 167262494 G C SCN7A Nonsynonymous SNV L1549V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 79323 chr20 61444785 61444785 G A rs28368556 OGFR Synonymous SNV P606P 0.036 0.023 0.099 14 42 9 0.036 29 17 4 4 4 7.254 79324 chr20 62196020 62196020 C T rs45602035 HELZ2 Synonymous SNV L816L 0.013 0.018 0.01 6 15 7 0.015 3 1 0 0 0 0.463 79325 chr20 40033920 40033920 C A CHD6 Nonsynonymous SNV M2487I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.21 79326 chr2 172563758 172563758 G A rs190799751 DYNC1I2 Nonsynonymous SNV R81H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 79327 chr20 23424614 23424614 G A rs147512873 CSTL1 Stop gain W88X 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 36 79328 chr20 62724253 62724253 C T rs55872076 OPRL1 Nonsynonymous SNV P22L 0.009 0.016 0.01 3 10 6 0.008 3 2 0 0 0 18.05 79329 chr2 166152357 166152357 G A rs149534277 SCN2A Synonymous SNV P8P 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.12 79330 chr17 19575224 19575224 C T rs150927045 ALDH3A2 Synonymous SNV L466L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Likely benign 14.06 79331 chr17 19617234 19617234 G T rs776268808 SLC47A2 Nonsynonymous SNV A116E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.59 79332 chr2 179549131 179549131 C T rs116676813 TTN Nonsynonymous SNV R9639K 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign/Likely benign 22.1 79333 chr20 2639144 2639144 A G rs140155681 IDH3B Nonsynonymous SNV Y366H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.02 79334 chr21 31964889 31964889 G A rs74715941 KRTAP6-3 Nonsynonymous SNV C42Y 0.008 0.005 0 0 9 2 0 0 0 0 0 0 5.854 79335 chr20 44637567 44637567 T A rs121434556 MMP9 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.9 79336 chr21 32638529 32638529 C T TIAM1 Nonsynonymous SNV A254T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.845 79337 chr2 169826573 169826573 C A rs11568371 ABCB11 Synonymous SNV V597V 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign/Likely benign 11.32 79338 chr2 169826592 169826592 T C rs11568367 ABCB11 Nonsynonymous SNV N591S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign/Likely benign 25.9 79339 chr22 41574341 41574352 ACCAGTTCCAGC - rs587778256 EP300 N2183_Q2187delinsK 0.003 0.013 0.003 0 3 5 0 1 0 0 0 0 79340 chr12 6729785 6729785 C T LPAR5 Synonymous SNV S210S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 12.83 79341 chr12 6883796 6883796 G A rs148432416 LAG3 Nonsynonymous SNV D183N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.744 79342 chr20 31619515 31619515 G A rs41293138 BPIFB6 Nonsynonymous SNV G21E 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 23.5 79343 chr21 34924863 34924863 C T rs144188863 SON Nonsynonymous SNV A1109V 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Likely benign 25.8 79344 chr12 7026829 7026829 G A ENO2 Nonsynonymous SNV R132H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 79345 chr12 7528404 7528404 C T rs150856487 CD163L1 Nonsynonymous SNV E870K 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.1 79346 chr21 37507740 37507740 C G rs9282628 CBR3 Nonsynonymous SNV L84V 0.02 0.021 0.027 5 23 8 0.013 8 0 0 0 0 14.62 79347 chr20 49197858 49197858 C A rs146344551 PTPN1 Nonsynonymous SNV A309D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.273 79348 chr20 50406807 50406807 C A rs41274696 SALL4 Nonsynonymous SNV A739S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign/Likely benign 0.003 79349 chr20 33345747 33345747 T C rs41290900 NCOA6 Synonymous SNV Q268Q 0.027 0.029 0.014 8 32 11 0.021 4 0 0 0 0 Likely benign 0.001 79350 chr2 183826892 183826892 C A rs148451124 NCKAP1 Nonsynonymous SNV D626Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 79351 chr21 38877762 38877762 T C rs55854596 DYRK1A Synonymous SNV Y434Y 0.02 0.013 0.01 10 24 5 0.026 3 1 0 0 0 Benign 0.066 79352 chr20 52645114 52645114 T C rs61749688 BCAS1 Synonymous SNV A180A 0.018 0.029 0.017 17 21 11 0.044 5 0 0 0 0 Benign 6.284 79353 chr2 176988015 176988015 C A rs711821 HOXD9 Synonymous SNV A173A 0.051 0.044 0.017 25 60 17 0.064 5 1 1 0 1 15.87 79354 chr22 43627807 43627807 C T rs769028527 SCUBE1 Nonsynonymous SNV G307S 0.003 0.01 0 0 3 4 0 0 0 0 0 0 13.23 79355 chr20 34054820 34054820 C T rs770748663 CEP250 Synonymous SNV H174H 0.005 0.005 0 0 6 2 0 0 0 0 0 0 11.53 79356 chr20 34079058 34079058 G T rs145916875 CEP250 Nonsynonymous SNV K293N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21 79357 chr20 34240686 34240686 T C rs74880624 RBM12 Synonymous SNV P853P 0.017 0.016 0.017 4 20 6 0.01 5 0 0 0 0 Benign 1.655 79358 chr2 179447755 179447755 G A rs72646867 TTN Synonymous SNV S12860S 0.013 0.005 0.003 4 15 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.59 79359 chr20 34773054 34773054 G C rs66823537 EPB41L1 Synonymous SNV L132L 0.019 0.018 0.02 7 22 7 0.018 6 0 0 0 1 Benign 0.495 79360 chr20 34782171 34782171 T C rs2295568 EPB41L1 Synonymous SNV H384H 0.021 0.021 0.024 9 25 8 0.023 7 0 0 0 1 Likely benign 0.025 79361 chr21 41725625 41725625 C T rs41395652 DSCAM Nonsynonymous SNV R234H 0.02 0.029 0.031 4 24 11 0.01 9 1 0 2 0 22.9 79362 chr20 57244396 57244396 G A rs41276950 STX16 Nonsynonymous SNV R144Q 0.02 0.026 0.01 7 23 10 0.018 3 0 0 0 0 Benign 23.8 79363 chr21 42824730 42824730 C T rs117998041 MX1 Synonymous SNV F564F 0.018 0.008 0.007 8 21 3 0.021 2 1 0 1 0 Benign 8.991 79364 chr20 3672647 3672647 C T rs35964604 SIGLEC1 Synonymous SNV L1411L 0.013 0.013 0.007 8 15 5 0.021 2 0 0 0 0 6.348 79365 chr20 57248739 57248739 C T rs752193031 STX16 Nonsynonymous SNV T278I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 79366 chr20 57415812 57415812 T A rs75176432 GNAS Synonymous SNV R217R 0.007 0.01 0.014 6 8 4 0.015 4 0 0 0 0 1.525 79367 chr2 17962117 17962117 T A rs61762986 GEN1 Synonymous SNV S546S 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 8.202 79368 chr2 179621433 179621433 C G rs377401997 TTN Nonsynonymous SNV E3419D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 1.953 79369 chr17 27889669 27889669 A G rs138073270 ABHD15 Synonymous SNV R439R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.488 79370 chr2 187626443 187626443 C T rs149426133 FAM171B Synonymous SNV D458D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 79371 chr20 36937431 36937431 C T rs5743502 BPI Synonymous SNV S115S 0.011 0.016 0.014 6 13 6 0.015 4 0 1 0 0 Benign 10.76 79372 chr21 43224720 43224720 C T rs759735465 PRDM15 Nonsynonymous SNV D940N 0.003 0 0 0 3 0 0 0 0 0 0 0 19.92 79373 chr22 45960775 45960775 A G FBLN1 Nonsynonymous SNV K570R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 2.677 79374 chr21 40717099 40717099 C T rs61751210 HMGN1 Synonymous SNV A76A 0.004 0.005 0 1 5 2 0.003 0 1 0 0 0 19.34 79375 chr17 29652931 29652931 G A rs17880521 NF1 Synonymous SNV V1622V 0.003 0.005 0.014 1 3 2 0.003 4 0 0 0 0 Benign 4.366 79376 chr17 30469471 30469473 CCG - rs754162268 LOC105371730 0 0 0.01 0 0 0 0 3 0 0 0 0 79377 chr20 60737860 60737860 C T rs148523929 SS18L1 Synonymous SNV T143T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.4 79378 chr20 60775932 60775932 C T rs1972 MTG2 Synonymous SNV H340H 0.02 0.021 0.01 11 23 8 0.028 3 0 0 0 0 11 79379 chr20 60868966 60868966 C G rs115390538 OSBPL2 Nonsynonymous SNV R356G 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 5.496 79380 chr20 39794885 39794885 G A rs35256607 PLCG1 Synonymous SNV G617G 0.015 0.01 0.007 4 18 4 0.01 2 0 0 0 0 Benign 5.482 79381 chr21 44836902 44836902 C T rs200810453 SIK1, SIK1B Nonsynonymous SNV G691D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 16.76 79382 chr20 60913571 60913571 G T rs754610401 LAMA5 Nonsynonymous SNV T524N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.605 79383 chr12 11214472 11214472 A G rs200936852 TAS2R46 Nonsynonymous SNV V141A 0.03 0.026 0 4 35 10 0.01 0 0 0 0 0 0.009 79384 chr2 186656179 186656179 C G rs192957612 FSIP2 Nonsynonymous SNV T1439R 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 24.4 79385 chr12 11214535 11214535 T C rs74198939 TAS2R46 Nonsynonymous SNV H120R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 79386 chr20 61341004 61341004 G A rs888344781 NTSR1 Nonsynonymous SNV D149N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 79387 chr21 45859023 45859023 T C TRPM2 Nonsynonymous SNV F95S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.52 79388 chr12 12332853 12332853 G C LRP6 Nonsynonymous SNV S479C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 79389 chr17 3566857 3566857 C T rs11541134 P2RX5-TAX1BP3 0 0 0.32 0 0 0 0 94 0 0 46 0 9.329 79390 chr21 45679527 45679527 G A rs138041176 DNMT3L Synonymous SNV C73C 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 0.752 79391 chr17 36487200 36487200 C T rs373293115 GPR179 Nonsynonymous SNV R751H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 79392 chr2 203500150 203500150 C T rs565083231 FAM117B Synonymous SNV G80G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 15.72 79393 chr2 203947960 203947960 A G rs762648838 NBEAL1 Nonsynonymous SNV I235V 0 0.005 0 0 0 2 0 0 0 0 0 0 10.93 79394 chr20 62594045 62594045 C T rs142143009 ZNF512B Synonymous SNV S686S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.5 79395 chr20 47886696 47886696 C G rs139084450 ZNFX1 Nonsynonymous SNV M551I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 10.22 79396 chr21 47532287 47532287 C T rs142328765 COL6A2 Synonymous SNV C170C 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 Benign/Likely benign 15.66 79397 chr17 37809961 37809961 C T rs150342077 STARD3 Synonymous SNV F59F 0.022 0.01 0.01 10 26 4 0.026 3 0 0 0 0 15.64 79398 chr21 46876004 46876004 C T rs142892701 COL18A1 Nonsynonymous SNV T187I 0.011 0.008 0.003 6 13 3 0.015 1 0 0 0 1 13.69 79399 chr2 205986458 205986458 A G rs34751010 PARD3B Nonsynonymous SNV K317R 0.011 0.023 0.024 8 13 9 0.021 7 1 0 0 0 19.95 79400 chr2 206041244 206041244 A G rs192810274 PARD3B Nonsynonymous SNV N561D 0.011 0.023 0.024 8 13 9 0.021 7 1 0 0 0 11.2 79401 chr21 47754488 47754488 A G rs111737555 PCNT Nonsynonymous SNV S31G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 10.02 79402 chr21 15889304 15889304 C G rs34607574 SAMSN1 Nonsynonymous SNV G63A 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 7.9 79403 chr17 38245469 38245469 C T rs142697613 THRA Synonymous SNV G331G 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 17.37 79404 chr20 53111429 53111429 C T rs6123389 DOK5 Synonymous SNV L53L 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 3.525 79405 chr20 55100886 55100886 C T rs774836739 FAM209A Synonymous SNV G92G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 79406 chr12 25249913 25249913 A G LRMP Nonsynonymous SNV K226E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 79407 chr21 47754666 47754666 G A rs142318247 PCNT Nonsynonymous SNV R90H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.599 79408 chr2 102788275 102788275 T C rs35308674 IL1R1 Synonymous SNV L102L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.021 79409 chr2 102955503 102955503 A G IL1RL1 Nonsynonymous SNV R90G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 79410 chr12 27467947 27467947 G C STK38L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 79411 chr21 30257663 30257663 G A rs750228286 N6AMT1 Nonsynonymous SNV A2V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 79412 chr17 39140203 39140203 C T rs140634473 KRT40 Nonsynonymous SNV R108H 0.007 0 0.014 3 8 0 0.008 4 0 0 0 0 26.4 79413 chr21 30338839 30338839 C T rs191559069 LTN1 Synonymous SNV A658A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.53 79414 chr21 47965873 47965873 C T rs144400668 DIP2A Nonsynonymous SNV P755L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Likely benign 25.7 79415 chr20 57566433 57566433 C A rs143044496 NELFCD Nonsynonymous SNV Q341K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 79416 chr2 209302328 209302328 C A rs61742329 PTH2R Stop gain S82X 0.009 0.018 0 3 11 7 0.008 0 1 0 0 0 25.8 79417 chr12 29904791 29904791 A C rs148886206 TMTC1 Nonsynonymous SNV L249R 0.016 0.003 0.003 4 19 1 0.01 1 0 0 0 0 9.317 79418 chr2 210843392 210843392 G A rs564176510 UNC80 Synonymous SNV S2960S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.49 79419 chr2 107460345 107460345 A T rs62155507 ST6GAL2 Nonsynonymous SNV F30Y 0.017 0.031 0.027 7 20 12 0.018 8 0 0 0 0 23.8 79420 chr2 202700399 202700399 C T rs34851370 CDK15 Nonsynonymous SNV T255I 0.016 0.029 0.017 11 19 11 0.028 5 0 0 0 0 31 79421 chr2 202700412 202700412 A C CDK15 Nonsynonymous SNV E259D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.3 79422 chr12 31551269 31551269 T C rs369420310 DENND5B Synonymous SNV K1032K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.366 79423 chr22 18021536 18021536 A G rs61736772 CECR2 Synonymous SNV A468A 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 2.666 79424 chr12 31653380 31653380 G A rs141702066 DENND5B Nonsynonymous SNV S38L 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 1.831 79425 chr2 109397795 109397795 C T rs199918785 RANBP2 Synonymous SNV A2890A 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 Likely benign 11.88 79426 chr22 19220971 19220971 G T rs76099251 CLTCL1 Nonsynonymous SNV L448I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.89 79427 chr22 20230602 20230602 C T rs41282453 RTN4R Synonymous SNV L18L 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 9.281 79428 chr21 35281496 35281496 T C rs140827929 ATP5PO Nonsynonymous SNV K73R 0.017 0.016 0.01 7 20 6 0.018 3 0 0 0 0 22.6 79429 chr2 216300385 216300385 T G rs145263539 FN1 Nonsynonymous SNV Q47H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.8 79430 chr22 20051020 20051020 T C rs45587538 TANGO2 Synonymous SNV A157A 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 1.04 79431 chr2 216809646 216809646 C G rs376760233 MREG Synonymous SNV G141G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 79432 chr2 207825642 207825642 C A rs200584221 CPO Synonymous SNV R184R 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 21.3 79433 chr21 37623565 37623565 C T rs76166909 DOP1B Nonsynonymous SNV R1702C 0.02 0.016 0.007 6 24 6 0.015 2 0 0 0 0 24.7 79434 chr20 60990899 60990899 C T rs774895356 RBBP8NL Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.856 79435 chr21 37759957 37759957 C T rs62229404 CHAF1B Nonsynonymous SNV A63V 0.043 0.036 0.078 14 51 14 0.036 23 1 0 0 0 20.6 79436 chr22 21377325 21377325 G A rs149671550 P2RX6 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23.9 79437 chr2 218745717 218745717 C G rs138239490 TNS1 Nonsynonymous SNV G320R 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 33 79438 chr21 38137321 38137321 C T rs149736764 HLCS Nonsynonymous SNV E705K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign/Likely benign 15.27 79439 chr12 48190804 48190804 G A rs141182137 HDAC7 Synonymous SNV L216L 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 Benign 12.28 79440 chr12 48190900 48190900 G A rs61754652 HDAC7 Synonymous SNV R184R 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 Benign 13.61 79441 chr2 113877698 113877698 C T rs760885026 IL1RN Synonymous SNV D22D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.912 79442 chr20 61299254 61299254 G A rs143584187 SLCO4A1 Nonsynonymous SNV G544S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 79443 chr22 22868807 22868807 A G rs143870620 ZNF280A Nonsynonymous SNV M383T 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 24.6 79444 chr2 219227599 219227599 G A rs138318485 CATIP Nonsynonymous SNV E213K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 79445 chr22 22318354 22318354 T C rs75602167 TOP3B Nonsynonymous SNV H382R 0.019 0.008 0.01 6 22 3 0.015 3 1 0 0 0 4.319 79446 chr22 22893238 22893238 C A PRAME Nonsynonymous SNV A83S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 79447 chr22 22893394 22893394 A T rs41310248 PRAME Nonsynonymous SNV L31M 0.019 0.021 0.02 12 22 8 0.031 6 0 0 0 0 0.346 79448 chr17 39975797 39975797 C T FKBP10 Synonymous SNV H311H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 79449 chr2 210837935 210837935 C T rs199561408 UNC80 Nonsynonymous SNV A2777V 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 79450 chr2 210968966 210968966 T C rs79865329 KANSL1L Synonymous SNV Q430Q 0.009 0.005 0.007 3 10 2 0.008 2 0 0 0 0 Benign 2.918 79451 chr2 219602833 219602833 C T rs371708156 TTLL4 Nonsynonymous SNV P145L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.14 79452 chr12 49176860 49176860 G A rs55770045 ADCY6 Nonsynonymous SNV R120C 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23.4 79453 chr21 42807877 42807877 C T rs545554440 MX1 Synonymous SNV I73I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.42 79454 chr22 24040827 24040827 T C rs566237442 RGL4 Synonymous SNV L490L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.227 79455 chr17 40646803 40646803 G A rs11651671 MIR548AT 0 0 0.221 0 0 0 0 65 0 0 11 0 1.231 79456 chr21 42845368 42845368 G A rs145355824 TMPRSS2 Synonymous SNV S298S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.698 79457 chr12 49445912 49445912 C T rs748339453 KMT2D Synonymous SNV S518S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.2 79458 chr22 24480684 24480684 G A CABIN1 Synonymous SNV R971R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.344 79459 chr22 24562940 24562940 C T rs200500123 CABIN1 Nonsynonymous SNV P1731S 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 1.191 79460 chr2 220113241 220113241 T A rs370633637 STK16 Nonsynonymous SNV L261H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 79461 chr17 41158975 41158975 C T rs138234610 IFI35 Nonsynonymous SNV P4L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.215 79462 chr12 49723757 49723757 C A TROAP Nonsynonymous SNV Q428K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 79463 chr2 128065196 128065196 C T rs774242849 MAP3K2 Nonsynonymous SNV A607T 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 23.4 79464 chr2 128238743 128238743 C T rs138004420 IWS1 Synonymous SNV A779A 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 16.37 79465 chr2 128338331 128338331 C T rs200261111 MYO7B Synonymous SNV F338F 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 14.57 79466 chr2 128408940 128408940 T C rs778634342 GPR17 Nonsynonymous SNV C211R 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 25.2 79467 chr20 62324333 62324333 C T rs142969505 RTEL1 Nonsynonymous SNV P720L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.8 79468 chr17 41466073 41466073 T C rs4986155 LINC00910 0 0 0.034 0 0 0 0 10 0 0 0 0 7.825 79469 chr20 62326874 62326874 G A rs181080831 RTEL1 Synonymous SNV T1231T 0.014 0.01 0.007 10 17 4 0.026 2 0 0 0 0 Benign/Likely benign 9.163 79470 chr22 26164432 26164432 C A rs41281573 MYO18B Synonymous SNV P183P 0.003 0.016 0.003 3 3 6 0.008 1 0 0 0 0 Benign 11.78 79471 chr17 42170799 42170825 GCTTGGCTGCCAGCATCTCCTGCTGCT - rs750276728 HDAC5 Q129_K137del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 79472 chr17 42476740 42476740 C T GPATCH8 Nonsynonymous SNV R824Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 79473 chr2 219528723 219528723 G A RNF25 Nonsynonymous SNV T446I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 79474 chr2 223559079 223559079 A G rs202012168 MOGAT1 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.6 79475 chr2 136874118 136874118 G A rs17848056 CXCR4 Synonymous SNV P52P 0.004 0.016 0 10 5 6 0.026 0 0 0 0 0 7.933 79476 chr2 219692022 219692022 T C rs143998069 PRKAG3 Nonsynonymous SNV N317S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 79477 chr21 16337764 16337764 G A rs77360822 NRIP1 Nonsynonymous SNV S917L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 18.67 79478 chr11 134023081 134023081 G A rs140724102 NCAPD3 Nonsynonymous SNV R1448W 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 19.03 79479 chr17 43003485 43003485 G A rs149181445 KIF18B Nonsynonymous SNV A841V 0.011 0.018 0.017 7 13 7 0.018 5 0 0 0 0 0.006 79480 chr21 16339348 16339348 A G rs77402452 NRIP1 Nonsynonymous SNV I389T 0.012 0.018 0.014 4 14 7 0.01 4 0 0 0 0 3.556 79481 chr22 30766242 30766242 C T rs183710453 KIAA1656 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 9.094 79482 chr2 227942764 227942764 A G rs145806603 COL4A4 Synonymous SNV G611G 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 Benign/Likely benign 0.603 79483 chr17 44060918 44060918 G A rs770014302 MAPT Nonsynonymous SNV A250T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.114 79484 chr12 459907 459907 C A rs776024339 KDM5A Synonymous SNV R396R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 16.12 79485 chr17 4576216 4576216 - GGCATGGGGCCTGCTGAA rs768977236 PELP1 P694_V695insMPSAGP 0.003 0.005 0.017 2 4 2 0.005 5 0 0 0 0 79486 chr12 52778979 52778979 C T KRT84 Nonsynonymous SNV V131I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 79487 chr22 36174093 36174093 G T rs186235997 RBFOX2 Synonymous SNV I143I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.65 79488 chr17 46607113 46607113 C T rs35115415 HOXB1 Synonymous SNV V234V 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 Benign 13.65 79489 chr21 47546080 47546080 G A rs75120695 COL6A2 Nonsynonymous SNV R784H 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign/Likely benign 21.3 79490 chr21 47571627 47571627 C T rs776462116 FTCD, FTCD-AS1 Nonsynonymous SNV S60L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 79491 chr12 52967117 52967117 C T rs73107581 KRT74 Nonsynonymous SNV D149N 0.02 0.018 0.037 7 24 7 0.018 11 0 0 0 0 9.554 79492 chr17 4713006 4713006 G A rs778011856 PLD2 Nonsynonymous SNV R212H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 79493 chr22 32498083 32498083 C T rs201895474 SLC5A1 Synonymous SNV T381T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.49 79494 chr12 4881738 4881738 A G rs16931692 GALNT8 Nonsynonymous SNV D630G 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 17.39 79495 chr21 33974545 33974545 C T rs764480518 CFAP298 Nonsynonymous SNV A267T 0.007 0 0 1 8 0 0.003 0 0 0 0 0 3.548 79496 chr22 38119695 38119695 C T rs183024099 TRIOBP Nonsynonymous SNV P378S 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 3.189 79497 chr21 34616000 34616000 T C IFNAR2 Synonymous SNV G26G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.039 79498 chr21 47783418 47783418 C T rs148495760 PCNT Synonymous SNV D608D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.251 79499 chr17 47784374 47784374 G C rs142518431 SLC35B1 Nonsynonymous SNV T54S 0.009 0.005 0.024 2 11 2 0.005 7 0 0 0 0 12.5 79500 chr12 5842040 5842040 G A rs149972273 ANO2 Nonsynonymous SNV R481C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 32 79501 chr21 47847692 47847692 A G PCNT Nonsynonymous SNV K2375E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 79502 chr22 36681327 36681327 T C rs145139708 MYH9 Nonsynonymous SNV K1775E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 23.8 79503 chr12 53454504 53454504 G C rs142155111 TNS2 Nonsynonymous SNV Q948H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.82 79504 chr22 18210196 18210196 A G BCL2L13 Nonsynonymous SNV M172V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 79505 chr22 18561272 18561272 C T rs150895887 PEX26 Nonsynonymous SNV L44F 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign/Likely benign 9.354 79506 chr21 38520855 38520855 C T rs747475282 TTC3 Nonsynonymous SNV R366C 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 35 79507 chr22 19109689 19109689 G A rs150441373 DGCR2 Synonymous SNV L11L 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Benign 3.748 79508 chr2 237103616 237103616 T C rs200571734 ASB18 Nonsynonymous SNV R434G 0 0.005 0 0 0 2 0 0 0 0 0 0 17.56 79509 chr2 167108385 167108385 C T rs74401238 SCN9A Nonsynonymous SNV R1121Q 0.021 0.044 0.017 9 25 17 0.023 5 0 1 0 0 Benign/Likely benign 4.228 79510 chr2 237490000 237490000 C T rs150632398 ACKR3 Nonsynonymous SNV H298Y 0.003 0.008 0.003 2 3 3 0.005 1 0 1 0 0 27.5 79511 chr22 19710092 19710095 GGGG - SEPT5-GP1BB 0 0 0 1 0 0 0.003 0 0 0 0 0 79512 chr22 19710097 19710098 CA - SEPT5-GP1BB 0 0 0 1 0 0 0.003 0 0 0 0 0 79513 chr21 40794945 40794945 G C rs143415723 LCA5L Nonsynonymous SNV S265C 0.016 0.018 0.01 4 19 7 0.01 3 0 0 0 0 23.3 79514 chr12 7805154 7805154 G A rs61753204 APOBEC1 Nonsynonymous SNV P63S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 8.793 79515 chr22 42608372 42608372 C T rs374547518 TCF20 Synonymous SNV P980P 0.01 0.003 0 3 12 1 0.008 0 0 0 0 0 Likely benign 8.979 79516 chr22 19959426 19959426 C T rs774502315 ARVCF Nonsynonymous SNV E922K 0 0 0 1 0 0 0.003 0 0 0 0 0 25 79517 chr12 55615509 55615509 G A rs780403157 OR10A7 Nonsynonymous SNV R234H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 79518 chr21 42710381 42710381 C T rs371339927 FAM3B Synonymous SNV S32S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.02 79519 chr22 20030877 20030877 G A TANGO2 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 79520 chr17 53158507 53158507 A C STXBP4 Nonsynonymous SNV E484D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 79521 chr22 39746066 39746066 C T rs1062694 SYNGR1 Synonymous SNV P17P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.24 79522 chr22 40059771 40059771 C T rs369811506 CACNA1I Synonymous SNV Y1139Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.31 79523 chr22 41620138 41620138 C T rs139346290 L3MBTL2 Synonymous SNV L353L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 16 79524 chr22 21998448 21998448 G A rs115168940 SDF2L1 Nonsynonymous SNV G217D 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 0 15.81 79525 chr22 22041238 22041238 G A rs201936934 PPIL2 Nonsynonymous SNV R283Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25 79526 chr22 44022493 44022493 G A rs143713526 EFCAB6 Nonsynonymous SNV H615Y 0.018 0.016 0.007 3 21 6 0.008 2 0 0 0 0 1.501 79527 chr22 42300878 42300878 T C rs80119854 SREBF2 Synonymous SNV H1035H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 0.006 79528 chr12 56428810 56428810 A G IKZF4 Nonsynonymous SNV I440V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.199 79529 chr2 176981731 176981731 T C rs201449517 HOXD10 Nonsynonymous SNV L57P 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 25.5 79530 chr2 176987516 176987516 G C rs186057872 HOXD9 Nonsynonymous SNV G7A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 10.87 79531 chr2 242009497 242009497 C A SNED1 Nonsynonymous SNV A1157E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.76 79532 chr22 43870778 43870778 A G rs376031251 MPPED1 Nonsynonymous SNV N190S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25 79533 chr2 179452695 179452695 C T rs72646853 TTN Nonsynonymous SNV A12082T 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 79534 chr12 57975700 57975700 C T rs113247976 KIF5A Nonsynonymous SNV P897L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign/Likely benign 22.9 79535 chr22 25294491 25294491 G T SGSM1 Nonsynonymous SNV V798L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.11 79536 chr12 58131815 58131815 C A AGAP2 Nonsynonymous SNV R72L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 79537 chr22 50277487 50277487 G A rs138733495 ZBED4 Synonymous SNV A59A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 9.087 79538 chr21 46929372 46929372 G A rs113268527 COL18A1 Nonsynonymous SNV A1295T 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Likely benign 23.8 79539 chr21 46930163 46930163 C T rs2838952 COL18A1 Synonymous SNV I1404I 0.02 0.018 0.007 5 24 7 0.013 2 1 0 0 0 Benign 15.65 79540 chr17 61843331 61843331 C T rs753052365 CCDC47 Nonsynonymous SNV V69M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.96 79541 chr12 12483033 12483033 G A rs143567594 MANSC1 Synonymous SNV L408L 0.013 0.005 0.003 3 15 2 0.008 1 0 0 0 0 2.002 79542 chr17 63822329 63822329 A T rs747985159 CEP112 Nonsynonymous SNV V30D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.734 79543 chr17 63822330 63822330 C A rs769800714 CEP112 Nonsynonymous SNV V30F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.783 79544 chr22 29706448 29706448 G A rs779351071 GAS2L1 Nonsynonymous SNV R218H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.31 79545 chr17 63822331 63822331 - TGT rs746784523 CEP112 N29delinsKH 0.001 0 0.003 0 1 0 0 1 0 0 0 0 79546 chr2 241907582 241907582 G A rs556159465 CROCC2 Nonsynonymous SNV R1435Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 4.966 79547 chr22 46655754 46655754 T C rs761968046 PKDREJ Nonsynonymous SNV T1156A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.01 79548 chr17 65040990 65040990 A G rs139913144 CACNG1 Nonsynonymous SNV I72V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.88 79549 chr17 655920 655920 G A rs910924 DBIL5P 0 0 0.19 0 0 0 0 56 0 0 6 0 9.207 79550 chr22 46704577 46704577 T G rs141501144 GTSE1 Nonsynonymous SNV Y167D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.1 79551 chr22 46704771 46704771 C T rs145330697 GTSE1 Synonymous SNV P231P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.08 79552 chr21 48071901 48071901 C T rs77776707 PRMT2 Nonsynonymous SNV P280S 0.009 0 0.01 8 11 0 0.021 3 0 0 0 2 0.323 79553 chr12 72893373 72893373 A G rs139695499 TRHDE Synonymous SNV A515A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 79554 chr2 242743399 242743399 C T rs758122606 GAL3ST2 Synonymous SNV L339L 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 11.27 79555 chr12 75683412 75683412 C G rs112805358 CAPS2 Nonsynonymous SNV V344L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 79556 chr12 75698635 75698635 C T rs35198123 CAPS2 Synonymous SNV E141E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.58 79557 chr22 47059001 47059001 C T rs141555305 GRAMD4 Synonymous SNV Y203Y 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 10.11 79558 chr2 242814606 242814606 T C rs201090760 RTP5 Nonsynonymous SNV V300A 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 0.012 79559 chr12 76740489 76740489 T C rs149596527 BBS10 Nonsynonymous SNV K426E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 7.889 79560 chr22 18273976 18273976 C A rs115182420 MICAL3 Synonymous SNV L1914L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 18.32 79561 chr12 80083520 80083520 G C rs372181524 PAWR Nonsynonymous SNV P169A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 79562 chr2 100623152 100623152 G A rs775874918 AFF3 Nonsynonymous SNV P297L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 23.5 79563 chr17 70120111 70120111 G A rs929651 SOX9 Synonymous SNV A371A 0.013 0.016 0.007 3 15 6 0.008 2 0 0 0 0 Benign 5.721 79564 chr2 18767638 18767638 A G rs147855918 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV L47P 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Likely benign 22.2 79565 chr22 32843317 32843317 T C rs143287045 BPIFC Nonsynonymous SNV S86G 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 10.61 79566 chr2 101609870 101609870 G A NPAS2 Nonsynonymous SNV A725T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.189 79567 chr22 21989018 21989018 G A rs370389574 CCDC116 Stop gain W222X 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 35 79568 chr22 36680275 36680275 G A rs375674671 MYH9 Nonsynonymous SNV R1877W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 79569 chr2 3392021 3392021 C T rs140551015 TRAPPC12 Synonymous SNV F209F 0.005 0.005 0.014 0 6 2 0 4 0 0 0 0 5.598 79570 chr22 22599537 22599537 G A rs1320 VPREB1 Nonsynonymous SNV D75N 0.015 0.023 0.027 3 18 9 0.008 8 0 0 0 0 0.892 79571 chr12 29757134 29757134 C T rs73266100 TMTC1 Synonymous SNV A409A 0.005 0.008 0.017 3 6 3 0.008 5 0 0 0 0 19.92 79572 chr17 72929583 72929583 C T rs150863790 OTOP2 Synonymous SNV G544G 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 13.83 79573 chr22 23922281 23922281 C T rs116760479 IGLL1 Nonsynonymous SNV V33M 0.019 0.016 0.027 4 22 6 0.01 8 1 0 0 0 Benign 0.008 79574 chr12 98909706 98909706 G T TMPO Nonsynonymous SNV V21F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 79575 chr17 73221527 73221527 G A rs61760968 NUP85 Nonsynonymous SNV A229T 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 9.678 79576 chr17 73258028 73258028 C T rs148590649 MRPS7 Nonsynonymous SNV A16V 0.007 0 0.01 0 8 0 0 3 0 0 0 0 Likely benign 7.569 79577 chr17 73267831 73267831 G T rs3809716 LOC100287042 0 0 0.024 0 0 0 0 7 0 0 3 0 7.302 79578 chr12 46758430 46758430 A G rs766547556 SLC38A2 Synonymous SNV I134I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.427 79579 chr22 39019225 39019225 G A rs201824717 FAM227A Stop gain R304X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 79580 chr22 39222681 39222681 G C rs140101072 NPTXR Nonsynonymous SNV R308G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27 79581 chr22 25155858 25155869 TGCTCCTCCTCT - rs548233885 PIWIL3 R64_A67del 0.002 0 0 0 2 0 0 0 0 0 0 0 79582 chr2 44550411 44550411 A G rs201400293 PREPL Nonsynonymous SNV I567T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.7 79583 chr22 39708981 39708981 C A RPL3 Synonymous SNV L392L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.94 79584 chr2 107459703 107459703 G C ST6GAL2 Nonsynonymous SNV A244G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.818 79585 chr2 204073414 204073414 A G rs140112414 NBEAL1 Nonsynonymous SNV T2492A 0.045 0.047 0.034 29 53 18 0.074 10 1 0 0 1 23.6 79586 chr2 47748388 47748388 G A rs115862926 KCNK12 Synonymous SNV C317C 0.005 0.005 0.02 5 6 2 0.013 6 0 0 0 0 Benign 8.913 79587 chr2 48030632 48030632 G T rs3136351 MSH6 Synonymous SNV P952P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 10.14 79588 chr17 73945808 73945808 C T rs762956777 ACOX1 Nonsynonymous SNV R452H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 79589 chr12 49165651 49165651 G A rs764365272 ADCY6 Nonsynonymous SNV R965C 0 0.008 0.003 0 0 3 0 1 0 0 0 0 35 79590 chr12 107371889 107371889 C T rs567519895 MTERF2 Nonsynonymous SNV E202K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 79591 chr17 73996887 73996887 T C rs3760131 TEN1-CDK3 0 0 0.034 0 0 0 0 10 0 0 5 0 3.71 79592 chr22 42305940 42305940 G A rs544943689 SHISA8 Synonymous SNV H341H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.782 79593 chr2 48873739 48873739 C T GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV S145F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.206 79594 chr22 28503451 28503451 G A rs371884009 TTC28 Synonymous SNV C794C 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 0.93 79595 chr12 49719565 49719565 C T rs141056233 TROAP Synonymous SNV T177T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.71 79596 chr17 74393895 74393895 G A rs760354261 UBE2O Synonymous SNV T700T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 79597 chr12 108985479 108985479 C T rs112991728 TMEM119 Synonymous SNV E227E 0.013 0.016 0.01 9 15 6 0.023 3 0 0 0 0 8.269 79598 chr12 109017264 109017264 T C rs7300972 SELPLG Nonsynonymous SNV M290V 0.012 0.013 0.02 9 14 5 0.023 6 0 0 0 0 0.66 79599 chr12 50369305 50369305 G A rs17124220 AQP6 Nonsynonymous SNV V234I 0.017 0.018 0.017 4 20 7 0.01 5 0 0 0 0 3.312 79600 chr12 109017266 109017266 G A rs61729674 SELPLG Nonsynonymous SNV S289F 0.012 0.013 0.02 9 14 5 0.023 6 0 0 0 0 23.1 79601 chr12 109017412 109017471 AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC - SELPLG A221_T240del 0.012 0.01 0.01 9 14 4 0.023 3 0 0 0 0 79602 chr17 7466473 7466473 C G rs765786938 SENP3 Nonsynonymous SNV P27R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 79603 chr2 55179753 55179753 G A rs180810986 EML6 Synonymous SNV E1412E 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Benign 10.02 79604 chr2 44502905 44502905 T A rs146630359 SLC3A1 Synonymous SNV S77S 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.326 79605 chr2 44539792 44539792 T C rs121912691 SLC3A1 Nonsynonymous SNV M467T 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 Pathogenic 25.7 79606 chr2 128380779 128380779 T G rs188404852 MYO7B Synonymous SNV A1190A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.06 79607 chr2 128459192 128459192 G T rs148183380 SFT2D3 Nonsynonymous SNV E30D 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 0.247 79608 chr2 128459195 128459195 G C rs141206501 SFT2D3 Nonsynonymous SNV K31N 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 0.06 79609 chr17 7592612 7592612 C T WRAP53 Nonsynonymous SNV P168S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 79610 chr17 76087634 76087634 A G rs199505620 TNRC6C Nonsynonymous SNV M1303V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.16 79611 chr17 76117147 76117147 G A rs61739261 TMC6 Synonymous SNV A494A 0.003 0.003 0.01 3 4 1 0.008 3 0 0 0 0 Benign 13.61 79612 chr2 48725872 48725872 C G PPP1R21 Nonsynonymous SNV L614V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.63 79613 chr17 76201751 76201751 C T rs143035478 AFMID Nonsynonymous SNV R238C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.3 79614 chr2 211019084 211019084 T C rs779972518 KANSL1L Nonsynonymous SNV K75E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.5 79615 chr2 118583874 118583874 C G rs137859195 DDX18 Synonymous SNV A517A 0.014 0.01 0.007 3 17 4 0.008 2 0 0 0 0 Benign 15.03 79616 chr17 76267843 76267843 G A rs872359 LINC01993 0 0 0.245 0 0 0 0 72 0 0 7 0 1.025 79617 chr12 109490401 109490401 C T rs2304266 USP30-AS1 0.034 0.034 0.034 28 40 13 0.072 10 12 2 3 7 9.943 79618 chr2 135107400 135107400 A G rs34876684 MGAT5 Synonymous SNV S379S 0.015 0.008 0.014 4 18 3 0.01 4 0 0 0 0 1.631 79619 chr22 33679238 33679238 T C rs11913417 LARGE1 Synonymous SNV S609S 0.01 0.018 0.02 5 12 7 0.013 6 0 0 0 0 Benign 0.551 79620 chr2 5833640 5833640 C A rs745675837 SOX11 Nonsynonymous SNV P263T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 79621 chr2 125405429 125405429 C G rs182009600 CNTNAP5 Nonsynonymous SNV D657E 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 16.38 79622 chr2 70529072 70529072 G A rs11540071 FAM136A Synonymous SNV N24N 0.011 0.016 0.014 8 13 6 0.021 4 0 0 0 0 Benign 9.749 79623 chr2 217001882 217001882 T C rs17819382 XRCC5 Synonymous SNV Y395Y 0.013 0.026 0.007 8 15 10 0.021 2 1 0 0 0 0.098 79624 chr2 128186243 128186243 G A rs61731660 PROC Synonymous SNV P369P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign/Likely benign 4.76 79625 chr17 7750178 7750186 ACCACCACC - rs754623058 KDM6B P262_P264del 0.017 0.013 0.017 6 20 5 0.015 5 1 0 2 0 79626 chr2 152127212 152127212 C T rs142455013 NMI Nonsynonymous SNV E307K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 29.5 79627 chr2 128409281 128409281 C T rs141862770 GPR17 Synonymous SNV F324F 0.003 0 0 4 4 0 0.01 0 0 0 0 0 6.357 79628 chr2 65299330 65299330 T A rs141499084 CEP68 Nonsynonymous SNV F367Y 0.02 0.016 0 5 23 6 0.013 0 0 0 0 0 Benign 23 79629 chr17 78063958 78064021 GGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACG - CCDC40 H954Rfs*67 0 0 0.003 0 0 0 0 1 0 0 0 0 79630 chr17 78064033 78064064 GGCACGTGCACGAACAACACGGGACGCGCGCG - CCDC40 G987Rfs*96 0.008 0.008 0.02 6 9 3 0.015 6 2 1 0 0 79631 chr2 71738977 71738977 G A rs34997054 DYSF Nonsynonymous SNV G129E 0.014 0.013 0.007 9 17 5 0.023 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 79632 chr17 78184698 78184698 G A rs150750383 SGSH Synonymous SNV A354A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.12 79633 chr12 53189734 53189734 A G rs139995578 KRT3 Synonymous SNV C31C 0.022 0.021 0.017 8 26 8 0.021 5 0 0 0 0 0.003 79634 chr22 38055187 38055187 C A PDXP Nonsynonymous SNV P133Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.203 79635 chr22 50957733 50957733 C T rs17850507 NCAPH2 Nonsynonymous SNV S282F 0.005 0.021 0.007 1 6 8 0.003 2 0 1 0 0 15.8 79636 chr2 74328439 74328439 G C rs60481444 TET3 Synonymous SNV L1415L 0 0.013 0.01 0 0 5 0 3 0 1 0 0 0.049 79637 chr22 38136941 38136941 C T rs200493962 TRIOBP Nonsynonymous SNV L1742F 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.89 79638 chr22 38155497 38155497 A G rs57799594 TRIOBP Nonsynonymous SNV K420R 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign 11.49 79639 chr22 38204029 38204029 C T rs78610332 GCAT Nonsynonymous SNV R19C 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 24.6 79640 chr2 75104379 75104379 G T rs36066402 HK2 Nonsynonymous SNV G321V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.42 79641 chr22 38211728 38211728 A G rs34340481 GCAT Synonymous SNV P317P 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 0.568 79642 chr2 71297944 71297944 A T rs150821125 NAGK Nonsynonymous SNV D12V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.9 79643 chr22 38221461 38221461 C T rs75281706 GALR3 Nonsynonymous SNV A364V 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 20.9 79644 chr17 79226138 79226139 CT - rs1020539966 SLC38A10 R601Gfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 79645 chr12 53684634 53684634 G A rs922657236 ESPL1 Nonsynonymous SNV A1792T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.28 79646 chr2 136594422 136594422 G A rs34307240 LCT Synonymous SNV D106D 0.011 0.013 0.014 1 13 5 0.003 4 0 0 0 0 Benign/Likely benign 1.342 79647 chr2 84880985 84880985 A C DNAH6 Nonsynonymous SNV H1874P 0 0.003 0 0 0 1 0 0 0 0 0 0 25 79648 chr2 71650959 71650959 C G ZNF638 Nonsynonymous SNV L1439V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21 79649 chr17 79770717 79770717 C G rs748764343 GCGR Nonsynonymous SNV L358V 0 0 0.003 0 0 0 0 1 0 0 0 0 28 79650 chr12 53819250 53819250 C A AMHR2 Synonymous SNV R172R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 79651 chr17 79867425 79867425 A G rs150714189 PCYT2 Nonsynonymous SNV M48T 0.004 0.005 0.014 1 5 2 0.003 4 0 0 0 0 23.1 79652 chr17 79880565 79880565 G A rs61752690 MAFG Synonymous SNV A135A 0.004 0.005 0.017 1 5 2 0.003 5 0 0 0 0 9.981 79653 chr12 54676920 54676920 G T rs749816501 HNRNPA1 Nonsynonymous SNV G270V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 79654 chr2 160994293 160994293 C T rs61737764 ITGB6 Nonsynonymous SNV V343M 0.024 0.023 0.014 10 28 9 0.026 4 0 0 0 0 Benign 28.2 79655 chr2 102000131 102000131 C T rs138973393 CREG2 Nonsynonymous SNV V159I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.934 79656 chr22 41513601 41513601 A T EP300 Nonsynonymous SNV M169L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 79657 chr12 56086993 56086993 C T rs144983062 ITGA7 Nonsynonymous SNV E434K 0.014 0.018 0.007 9 17 7 0.023 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 79658 chr17 8045696 8045696 C T rs752793680 PER1 Nonsynonymous SNV G1114R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.11 79659 chr17 8046749 8046749 C T rs141466599 PER1 Synonymous SNV P969P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 79660 chr2 152373000 152373000 G T rs185574478 NEB Synonymous SNV A5925A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.32 79661 chr17 80544069 80544069 A G rs111835668 FOXK2 Synonymous SNV E523E 0.005 0 0.017 1 6 0 0.003 5 0 0 0 0 0.354 79662 chr2 88874444 88874444 A G EIF2AK3 Synonymous SNV L702L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.05 79663 chr12 130926433 130926433 C T rs143237813 RIMBP2 Synonymous SNV E471E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.06 79664 chr2 152500407 152500407 G A rs761549144 NEB Synonymous SNV Y2627Y 0.004 0 0 3 5 0 0.008 0 0 0 0 0 6.847 79665 chr17 8170545 8170545 G A rs777807349 PFAS Nonsynonymous SNV R1056H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.765 79666 chr2 170127559 170127559 G A rs141180155 LRP2 Synonymous SNV T725T 0.006 0 0.02 2 7 0 0.005 6 0 0 0 0 Benign/Likely benign 12.92 79667 chr12 57111549 57111549 T C rs201766056 NACA Synonymous SNV P1255P 0.006 0.005 0 0 7 2 0 0 0 0 0 0 3.363 79668 chr12 57111550 57111550 G A rs200125059 NACA Nonsynonymous SNV P1255L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 3.52 79669 chr17 8262897 8262897 G C LOC100128288 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 79670 chr12 57111552 57111552 G A rs200929777 NACA Synonymous SNV G1254G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.595 79671 chr2 170735046 170735046 G A rs769776284 UBR3 Nonsynonymous SNV A334T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 79672 chr2 112725747 112725747 G A rs34072093 MERTK Nonsynonymous SNV R293H 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.036 79673 chr12 57317623 57317623 A T SDR9C7 Nonsynonymous SNV S312R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 79674 chr17 9497560 9497560 C T rs77839011 CFAP52 Nonsynonymous SNV A85V 0.013 0.018 0.02 8 15 7 0.021 6 0 0 0 0 Likely benign 23.6 79675 chr3 102153963 102153963 T A rs778909571 ZPLD1 Nonsynonymous SNV M2K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 79676 chr2 176866915 176866915 G C rs537985355 LNPK Nonsynonymous SNV P35R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.72 79677 chr22 46777880 46777880 G A rs35315552 CELSR1 Synonymous SNV T2317T 0.02 0.005 0 4 23 2 0.01 0 0 0 0 0 9.074 79678 chr2 165550863 165550863 G A rs115610399 COBLL1 Synonymous SNV V1013V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 2.911 79679 chr2 165551128 165551128 G A rs139834711 COBLL1 Nonsynonymous SNV S925F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.018 79680 chr2 116598397 116598397 C A rs146482002 DPP10 Nonsynonymous SNV Q498K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 79681 chr2 179320807 179320807 A G rs757161569 PJVK Star tloss M160V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.61 79682 chr18 21447817 21447817 T C LAMA3 Nonsynonymous SNV I1568T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.37 79683 chr2 234590940 234590940 A - rs748312347 UGT1A7 L119Ffs*15 0.008 0.01 0 0 9 4 0 0 0 0 0 0 79684 chr18 24081134 24081134 T A rs760338786 KCTD1 Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 79685 chr2 179436828 179436828 A G rs777554021 TTN Synonymous SNV T15612T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.474 79686 chr12 71092085 71092085 C T rs139398611 PTPRR Synonymous SNV P168P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 14.61 79687 chr2 179472223 179472223 A G rs72646809 TTN Nonsynonymous SNV I8666T 0.013 0.021 0.017 7 15 8 0.018 5 0 0 0 0 Benign/Likely benign 16.5 79688 chr2 179593302 179593302 C T rs763946767 TTN Nonsynonymous SNV D5207N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.1 79689 chr2 128431283 128431283 C T rs991541495 LIMS2 Nonsynonymous SNV G16R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.31 79690 chr13 30829726 30829726 T C rs200596854 KATNAL1 Nonsynonymous SNV N117S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 79691 chr2 131102218 131102218 C T rs762219822 IMP4 Synonymous SNV P43P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.49 79692 chr18 31326158 31326158 G A rs117661115 ASXL3 Nonsynonymous SNV A2116T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 28.2 79693 chr13 32972884 32972884 A G rs1801426 BRCA2 Nonsynonymous SNV I3412V 0.003 0.016 0.003 6 3 6 0.015 1 0 0 0 0 Benign 0.104 79694 chr3 113233678 113233678 A C SPICE1 Nonsynonymous SNV V3G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.25 79695 chr2 174224147 174224147 C T rs544881819 CDCA7 Synonymous SNV A104A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.89 79696 chr18 34740290 34740290 A C rs140424487 KIAA1328 Nonsynonymous SNV K346Q 0.008 0.01 0.01 2 9 4 0.005 3 0 0 0 0 9.35 79697 chr3 113955753 113955753 C T rs146464395 ZNF80 Nonsynonymous SNV V57M 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 20.3 79698 chr3 114070289 114070289 C A rs143932166 ZBTB20 Synonymous SNV P212P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.37 79699 chr2 10059729 10059729 A G rs201240819 TAF1B Nonsynonymous SNV M194V 0.002 0 0.01 0 2 0 0 3 0 0 0 0 11.43 79700 chr2 23980698 23980698 T C rs116791512 ATAD2B Nonsynonymous SNV N1218S 0.012 0.008 0 5 14 3 0.013 0 0 0 0 0 0.002 79701 chr2 23985212 23985212 T C rs191915541 ATAD2B Synonymous SNV L1082L 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 6.34 79702 chr2 240951071 240951071 C T rs35462421 NDUFA10 Nonsynonymous SNV E238K 0.017 0.008 0.017 6 20 3 0.015 5 0 0 0 0 Benign/Likely benign 34 79703 chr2 185802724 185802724 G A rs112021606 ZNF804A Synonymous SNV R867R 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 0.03 79704 chr2 240951073 240951073 A G NDUFA10 Nonsynonymous SNV I237T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 28.7 79705 chr2 178540237 178540237 T C rs958088296 PDE11A Synonymous SNV L367L 0.003 0 0 0 4 0 0 0 0 0 0 0 7.591 79706 chr2 186654082 186654082 G A rs79400482 FSIP2 Nonsynonymous SNV R740H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.888 79707 chr2 179430918 179430918 T C rs72648208 TTN Synonymous SNV Q17582Q 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign/Likely benign 0.349 79708 chr3 119155728 119155728 T C rs758103137 TMEM39A Nonsynonymous SNV K341R 0.003 0 0 0 3 0 0 0 0 0 0 0 9.823 79709 chr2 142567860 142567860 A T rs201398272 LRP1B Nonsynonymous SNV S65T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.2 79710 chr3 120067986 120067986 C G rs369736137 LRRC58 Synonymous SNV R35R 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 8.884 79711 chr2 187626811 187626811 A C FAM171B Nonsynonymous SNV N581T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 79712 chr2 1893133 1893133 C T rs75247762 MYT1L Synonymous SNV Q800Q 0.055 0.031 0.054 31 64 12 0.079 16 4 0 1 1 11.91 79713 chr3 121295668 121295668 G A rs780241902 ARGFX Synonymous SNV T47T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.836 79714 chr13 47127666 47127666 G C rs45611838 LRCH1 Synonymous SNV A45A 0.009 0.003 0.003 4 11 1 0.01 1 0 0 0 0 7.446 79715 chr2 190606152 190606152 A C rs143926631 ANKAR Nonsynonymous SNV Y1262S 0.009 0.01 0.003 8 11 4 0.021 1 0 0 0 0 Benign 10.76 79716 chr2 191535069 191535069 G A rs115192791 NAB1 Synonymous SNV A279A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 79717 chr2 191827663 191827663 A G rs35890674 GLS Nonsynonymous SNV N654S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 79718 chr2 186603633 186603633 C T rs528682284 FSIP2, FSIP2-AS2 Synonymous SNV Y4Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.76 79719 chr2 192228529 192228529 C T MYO1B Synonymous SNV L281L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.04 79720 chr13 52439563 52439563 G C rs139636426 CCDC70 Nonsynonymous SNV V6L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 79721 chr2 159028721 159028721 T C rs140240262 CCDC148 Synonymous SNV G414G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 7.664 79722 chr2 196602773 196602773 G A rs114621989 DNAH7 Nonsynonymous SNV R3983W 0.013 0.016 0.01 4 15 6 0.01 3 0 0 0 0 Benign 29.2 79723 chr18 57103297 57103297 T G rs139059968 CCBE1 Nonsynonymous SNV K355T 0 0 0.007 0 0 0 0 2 0 0 0 0 27 79724 chr3 124515454 124515454 C T rs146544547 ITGB5 Nonsynonymous SNV G339S 0.009 0.01 0 5 11 4 0.013 0 0 0 0 0 8.666 79725 chr2 197183332 197183332 C T rs61752162 HECW2 Nonsynonymous SNV G405E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 5.726 79726 chr2 186668933 186668933 A T rs188970608 FSIP2 Nonsynonymous SNV N4967I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.7 79727 chr3 124746296 124746296 G A rs79038354 HEG1 Synonymous SNV A222A 0.025 0.018 0.031 12 29 7 0.031 9 0 0 2 0 8.487 79728 chr2 160692117 160692117 G A rs140695949 LY75, LY75-CD302 Nonsynonymous SNV H1183Y 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Likely benign 13.79 79729 chr18 60563225 60563225 A G rs140035447 PHLPP1 Nonsynonymous SNV I809V 0.01 0.01 0.017 4 12 4 0.01 5 0 0 0 0 11.87 79730 chr12 110906784 110906784 A T FAM216A Nonsynonymous SNV E35V 0.009 0.008 0 0 10 3 0 0 0 0 0 0 24 79731 chr2 189932742 189932742 G A rs115570272 COL5A2 Nonsynonymous SNV P467L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 21.1 79732 chr12 112241720 112241720 G A rs190914158 ALDH2 Synonymous SNV S441S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 13.07 79733 chr2 202352463 202352463 G A rs140775049 C2CD6 Stop gain R582X 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 35 79734 chr2 202698575 202698575 T C CDK15 Nonsynonymous SNV F204S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28 79735 chr2 168102774 168102774 G T rs72884678 XIRP2 Nonsynonymous SNV L1402F 0.019 0.005 0.02 13 22 2 0.033 6 0 0 0 0 0.309 79736 chr2 27262623 27262623 C T rs374406887 TMEM214 Nonsynonymous SNV R469W 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 35 79737 chr2 122125282 122125282 G A rs773791218 CLASP1 Synonymous SNV F1189F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.551 79738 chr2 127808806 127808806 G A rs200580275 BIN1 Nonsynonymous SNV S308L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.41 79739 chr2 170059343 170059343 C T rs190037522 LRP2 Nonsynonymous SNV R2711H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 12.52 79740 chr2 27590038 27590038 G C rs78599355 EIF2B4 Nonsynonymous SNV R327G 0.021 0.036 0 6 25 14 0.015 0 0 1 0 0 Benign 9.483 79741 chr18 7231301 7231301 G C rs147237917 LRRC30 Synonymous SNV L55L 0.006 0.003 0.01 5 7 1 0.013 3 0 0 0 0 5.413 79742 chr2 170428198 170428198 G A rs113959605 FASTKD1 Synonymous SNV D114D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.57 79743 chr2 170487312 170487314 ATC - rs767568138 PPIG S202del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 79744 chr2 170502509 170502509 G A rs112720712 CCDC173 Nonsynonymous SNV P501S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.2 79745 chr18 74153370 74153370 G A rs370726018 ZNF516 Synonymous SNV D547D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 79746 chr2 170684524 170684524 C T rs114153734 UBR3 Synonymous SNV A169A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 9.984 79747 chr13 102568903 102568903 G A rs761693008 FGF14 Synonymous SNV S31S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 79748 chr2 202025375 202025375 G A rs33914895 CFLAR Synonymous SNV R93R 0.014 0.016 0.01 9 17 6 0.023 3 0 0 0 0 11.19 79749 chr2 171355213 171355213 G T rs758584049 MYO3B Nonsynonymous SNV K1042N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 79750 chr2 171371469 171371469 G A rs34546065 MYO3B Nonsynonymous SNV V1110I 0.003 0.005 0.017 8 3 2 0.021 5 0 0 0 0 0.008 79751 chr13 103388877 103388877 G A rs183026632 CCDC168 Nonsynonymous SNV P4724S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.86 79752 chr3 130159601 130159601 G C rs148781028 COL6A5 Nonsynonymous SNV G2140A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.1 79753 chr2 171573045 171573045 G C rs200585828 SP5 Nonsynonymous SNV E110Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 79754 chr2 20867209 20867220 CCGCGCCGCGCG - rs776133674 GDF7 R74_A77del 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 79755 chr13 103459861 103459861 A G rs41281670 BIVM, BIVM-ERCC5 Nonsynonymous SNV I82V 0.011 0 0.007 1 13 0 0.003 2 0 0 0 0 0.153 79756 chr2 136561517 136561517 T C rs147495948 LCT Nonsynonymous SNV Y1549C 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Uncertain significance 5.745 79757 chr3 130449248 130449248 G A rs1719073 PIK3R4 Synonymous SNV L497L 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 9.616 79758 chr3 131186944 131186944 G A rs201756957 MRPL3 Synonymous SNV C295C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 6.445 79759 chr3 132413792 132413792 T C NPHP3 Nonsynonymous SNV N730S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.946 79760 chr2 204304519 204304519 G A rs146219972 RAPH1 Nonsynonymous SNV R1132C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26 79761 chr13 110435017 110435017 G A rs780638362 IRS2 Synonymous SNV D1128D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 79762 chr2 179214030 179214030 C T rs763334246 OSBPL6 Nonsynonymous SNV T325I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 79763 chr3 133661577 133661577 G A rs142933499 SLCO2A1 Synonymous SNV S499S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.708 79764 chr19 10084460 10084460 A G rs62638750 COL5A3 Nonsynonymous SNV V1195A 0.015 0.005 0.017 5 18 2 0.013 5 0 0 0 0 Benign 25.5 79765 chr19 10084891 10084891 C T rs756348875 COL5A3 Nonsynonymous SNV G1154S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 79766 chr3 137781678 137781678 G A rs142617141 DZIP1L Nonsynonymous SNV P762S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 2.058 79767 chr19 10157806 10157806 C T rs73009214 C3P1 0 0 0.156 0 0 0 0 46 0 0 9 0 9.081 79768 chr2 3687916 3687916 A G COLEC11 Nonsynonymous SNV E34G 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 25.3 79769 chr2 37035866 37035866 G T rs36048308 VIT Synonymous SNV T511T 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 2.771 79770 chr2 152490236 152490236 C T rs193042896 NEB Nonsynonymous SNV E3116K 0.011 0.01 0.01 1 13 4 0.003 3 0 0 0 0 Likely benign 18.1 79771 chr2 216946463 216946463 A G rs144581659 PECR Star tloss M1? 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 23.4 79772 chr2 37428927 37428929 TTT - rs148813970 CEBPZ K1048del 0.037 0.047 0.037 14 44 18 0.036 11 0 0 0 0 79773 chr2 217525323 217525323 C T rs372737668 IGFBP2 Synonymous SNV H162H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 79774 chr2 37506902 37506902 C T rs770559494 PRKD3 Nonsynonymous SNV V387I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.76 79775 chr19 1043048 1043048 G A rs778537557 ABCA7 Synonymous SNV A196A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.716 79776 chr3 1414075 1414075 A C rs139645898 CNTN6 Nonsynonymous SNV I425L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.009 79777 chr2 38302098 38302098 C T CYP1B1 Nonsynonymous SNV R145Q 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 33 79778 chr3 14212047 14212047 G A rs41545713 XPC Synonymous SNV D101D 0.013 0.013 0.007 6 15 5 0.015 2 0 0 0 0 Benign 1.9 79779 chr2 219495382 219495382 T C rs201051996 PLCD4 Nonsynonymous SNV Y377H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 79780 chr2 219507238 219507238 C A ZNF142 Nonsynonymous SNV G1334V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 79781 chr3 146311775 146311775 G A rs182408490 PLSCR5 Stop gain R129X 0.007 0 0.01 4 8 0 0.01 3 0 0 0 0 42 79782 chr3 14724400 14724400 G A rs916422269 C3orf20 Synonymous SNV V60V 0.006 0.003 0 8 7 1 0.021 0 0 0 0 0 5.527 79783 chr12 129558919 129558919 A G TMEM132D Nonsynonymous SNV F934S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 79784 chr3 147120550 147120550 C T rs770897181 ZIC4 Nonsynonymous SNV R62Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 79785 chr2 163279930 163279930 G A rs74327750 KCNH7 Synonymous SNV H683H 0.017 0.034 0.007 10 20 13 0.026 2 0 0 0 0 2.953 79786 chr19 11326137 11326137 C T rs368920015 DOCK6 Synonymous SNV P1344P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 79787 chr3 149479396 149479396 A T rs560648606 ANKUB1 Nonsynonymous SNV F504I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 79788 chr2 46237530 46237530 G A rs56005919 PRKCE Synonymous SNV K437K 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Benign 11.27 79789 chr2 47301035 47301035 C A rs780449127 TTC7A Synonymous SNV P496P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.97 79790 chr2 218682438 218682438 G A rs148598641 TNS1 Synonymous SNV P1414P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.57 79791 chr19 11727949 11727949 C T rs543742429 ZNF627 Nonsynonymous SNV R101C 0 0 0.007 0 0 0 0 2 0 0 0 0 28.4 79792 chr2 167263155 167263155 T A rs34971284 SCN7A Synonymous SNV G1328G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.231 79793 chr12 133201381 133201381 T A rs73155056 POLE Nonsynonymous SNV I2255F 0.011 0.016 0.003 2 13 6 0.005 1 0 0 0 0 Benign/Likely benign 20.8 79794 chr2 167760002 167760002 A G rs80326955 XIRP2 Nonsynonymous SNV M4V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 11.01 79795 chr2 54001465 54001465 G A rs746994832 CHAC2 Nonsynonymous SNV G120S 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 30 79796 chr2 219674360 219674360 G A rs374769409 CYP27A1 Nonsynonymous SNV V106M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 79797 chr3 15531118 15531118 G A rs763096476 COLQ Nonsynonymous SNV R45C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.4 79798 chr19 14070696 14070696 G A DCAF15 Nonsynonymous SNV V477I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 79799 chr14 21544575 21544575 C T rs762743669 ARHGEF40 Nonsynonymous SNV P599L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.67 79800 chr2 169707455 169707455 T C rs118103537 NOSTRIN Nonsynonymous SNV L247P 0.01 0.003 0.017 1 12 1 0.003 5 0 0 0 0 3.443 79801 chr19 14740974 14740974 G A rs145814654 ADGRE3 Synonymous SNV C437C 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 1.745 79802 chr14 21560098 21560098 T C ZNF219 Nonsynonymous SNV H453R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.082 79803 chr2 225664873 225664873 G A rs767087963 DOCK10 Nonsynonymous SNV H1495Y 0.003 0 0 0 4 0 0 0 0 0 0 0 21.9 79804 chr2 63175645 63175645 A T rs77187983 EHBP1 Nonsynonymous SNV D555V 0.009 0.018 0.007 3 11 7 0.008 2 0 0 0 0 25.1 79805 chr3 160956554 160956554 C T rs201801250 NMD3 Synonymous SNV I231I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.46 79806 chr13 20763620 20763620 A G rs35887622 GJB2 Nonsynonymous SNV M34T 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 Pathogenic 14.43 79807 chr2 227924137 227924137 T A rs56247709 COL4A4 Synonymous SNV G789G 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 Benign/Likely benign 4.008 79808 chr3 158523224 158523224 T G rs373105100 MFSD1 Nonsynonymous SNV F24C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 79809 chr3 159482768 159482768 G T rs9832139 IQCJ-SCHIP1, SCHIP1 Synonymous SNV G200G 0.01 0.003 0.017 3 12 1 0.008 5 1 0 0 0 0.122 79810 chr3 160025451 160025451 G A rs144099135 IFT80 Nonsynonymous SNV S222F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 31 79811 chr3 164730786 164730786 C T rs75253993 SI Synonymous SNV T1348T 0.037 0.036 0.041 13 44 14 0.033 12 1 0 0 0 Uncertain significance 15.87 79812 chr13 21734127 21734127 - ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA SKA3 0.002 0.005 0 0 2 2 0 0 0 0 0 0 79813 chr2 228565754 228565754 C A SLC19A3 Nonsynonymous SNV G5C 0.002 0 0 0 2 0 0 0 0 0 0 0 5.289 79814 chr2 68882661 68882661 A G rs34715748 PROKR1 Nonsynonymous SNV I379V 0.066 0.055 0.054 20 77 21 0.051 16 7 1 2 0 4.573 79815 chr3 16645996 16645996 G A rs55900737 DAZL Nonsynonymous SNV S5L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.732 79816 chr2 20178593 20178593 G A rs140308808 WDR35 Nonsynonymous SNV R119C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 79817 chr2 201862181 201862181 G A rs142366906 FAM126B Nonsynonymous SNV R205W 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 34 79818 chr19 15484850 15484850 C T rs199886431 AKAP8 Nonsynonymous SNV A40T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.666 79819 chr19 15491046 15491046 C T rs778423992 AKAP8L Nonsynonymous SNV E549K 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.5 79820 chr2 202057799 202057799 A G rs146233833 CASP10 Synonymous SNV V178V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.921 79821 chr3 167338387 167338387 T C WDR49 Nonsynonymous SNV Q263R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.03 79822 chr3 169492236 169492236 G A rs17568472 MYNN Synonymous SNV A51A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 13.56 79823 chr3 169831268 169831268 T C rs73181210 PHC3 Nonsynonymous SNV K733E 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 26.4 79824 chr14 23312607 23312607 G A rs142651327 MMP14 Nonsynonymous SNV R277Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 79825 chr2 224462916 224462916 G A SCG2 Nonsynonymous SNV P362L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 79826 chr19 15918434 15918434 C A rs1859299 OR10H1 Synonymous SNV P138P 0.036 0.023 0.027 6 42 9 0.015 8 0 0 0 0 Benign 8.684 79827 chr14 23588292 23588292 G A rs769903476 CEBPE Synonymous SNV H3H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.688 79828 chr19 16137118 16137118 G A rs2365156 LINC00661 0 0 0.51 0 0 0 0 150 0 0 64 0 5.595 79829 chr14 24114455 24114455 G A rs149958507 DHRS2 Nonsynonymous SNV R279Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.73 79830 chr2 73717034 73717034 A C ALMS1 Nonsynonymous SNV S2649R 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Uncertain significance 24.9 79831 chr3 183041113 183041113 G T MCF2L2 Nonsynonymous SNV D171E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 79832 chr2 207026190 207026190 T G rs150049700 EEF1B2 Nonsynonymous SNV D108E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.52 79833 chr2 229890386 229890386 C T rs544315038 PID1 Nonsynonymous SNV E157K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 79834 chr3 183643439 183643439 G A rs192562060 ABCC5 Synonymous SNV I900I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.06 79835 chr3 18390785 18390785 C T rs772172206 SATB1 Synonymous SNV E651E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.016 79836 chr2 231902316 231902316 T C rs186173488 C2orf72 Synonymous SNV L12L 0.026 0.055 0 25 30 21 0.064 0 12 9 0 10 0.084 79837 chr14 24910055 24910055 C T rs145788637 SDR39U1 Nonsynonymous SNV V54I 0.009 0.018 0.02 1 10 7 0.003 6 0 0 0 0 26.2 79838 chr13 36886363 36886363 G A rs772034308 SPART Nonsynonymous SNV T551I 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 29.5 79839 chr3 184297327 184297327 C T EPHB3 Nonsynonymous SNV R622W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 35 79840 chr13 36909893 36909893 T C rs148399669 SPART Synonymous SNV L25L 0.018 0.01 0.003 10 21 4 0.026 1 3 0 0 0 Conflicting interpretations of pathogenicity 0.253 79841 chr3 184910078 184910078 G A rs55752621 EHHADH Nonsynonymous SNV S607F 0.019 0.016 0.017 9 22 6 0.023 5 0 0 1 0 Conflicting interpretations of pathogenicity 25.2 79842 chr3 186965162 186965162 C T rs113938200 MASP1 Nonsynonymous SNV D368N 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Uncertain significance 20.5 79843 chr14 33015536 33015536 G A rs138230157 AKAP6 Synonymous SNV Q559Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 79844 chr2 238785923 238785923 G A rs142335491 RAMP1 Nonsynonymous SNV R37Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.793 79845 chr3 186256741 186256741 T C CRYGS Nonsynonymous SNV Y94C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 79846 chr3 193272443 193272446 GTGT - rs61326289 ATP13A4-AS1 0.073 0.083 0.065 27 86 32 0.069 19 35 13 7 10 79847 chr14 45433023 45433023 G A TOGARAM1 Nonsynonymous SNV G467R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 79848 chr14 45644503 45644503 A T FANCM Nonsynonymous SNV K823I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 79849 chr13 49281414 49281414 G A rs143735193 CYSLTR2 Nonsynonymous SNV S154N 0.019 0.013 0.003 1 22 5 0.003 1 0 0 0 0 1.684 79850 chr2 218713016 218713016 A C rs754417823 TNS1 Nonsynonymous SNV F617V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 79851 chr19 18392894 18392894 C T rs7247237 MIR3188 0 0 0.19 0 0 0 0 56 0 0 9 0 10.17 79852 chr19 18392913 18392913 A G rs7247767 MIR3188 0 0 0.207 0 0 0 0 61 0 0 10 0 6.286 79853 chr2 99271976 99271976 T C rs61748145 MGAT4A Nonsynonymous SNV T108A 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 Benign 19.62 79854 chr3 194373464 194373464 G A rs35480846 LSG1 Synonymous SNV V389V 0.013 0.013 0.014 8 15 5 0.021 4 0 0 0 0 9.071 79855 chr13 52508989 52508989 G A rs60986317 ATP7B Nonsynonymous SNV T1227M 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 79856 chr2 99949559 99949559 T C rs150699848 TXNDC9 Nonsynonymous SNV M39V 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 19.82 79857 chr2 190592802 190592802 A G rs150136487 ANKAR Synonymous SNV K952K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.384 79858 chr2 219513675 219513675 C T rs146514201 ZNF142 Nonsynonymous SNV R319H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 29.2 79859 chr3 195306289 195306289 A G rs5952 APOD Nonsynonymous SNV F15S 0.019 0.018 0.01 5 22 7 0.013 3 1 0 0 0 Benign 16.65 79860 chr2 242610172 242610172 A G rs138274580 ATG4B Nonsynonymous SNV N330S 0.02 0.026 0.017 5 23 10 0.013 5 0 0 1 0 16.97 79861 chr2 238725716 238725716 G C rs13393001 RBM44 Nonsynonymous SNV D53H 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 14.89 79862 chr2 242658907 242658907 C T rs1006891844 ING5 Synonymous SNV S166S 0.003 0 0 0 4 0 0 0 0 0 0 0 5.982 79863 chr3 195515548 195515548 G A rs62282503 MUC4 Nonsynonymous SNV T968M 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 1.228 79864 chr2 242741223 242741223 G A rs750689025 GAL3ST2 Synonymous SNV P49P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.544 79865 chr3 101062791 101062791 A G rs144130703 SENP7 Synonymous SNV S451S 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 6.649 79866 chr2 191524491 191524491 C T rs61748258 NAB1 Nonsynonymous SNV L197F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 23.3 79867 chr19 19767681 19767681 G A rs758667471 ATP13A1 Synonymous SNV I317I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.53 79868 chr19 20736531 20736531 T A ZNF737 Nonsynonymous SNV R38S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 79869 chr3 195595297 195595297 C T rs144161756 TNK2 Synonymous SNV T641T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 11.35 79870 chr2 239237368 239237368 G C rs144577497 TRAF3IP1 Nonsynonymous SNV E132D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.62 79871 chr3 195595405 195595405 G A rs1056726 TNK2 Synonymous SNV F605F 0.043 0.049 0.034 24 51 19 0.062 10 2 0 0 0 Benign 0.313 79872 chr2 239237846 239237846 G A rs138469421 TRAF3IP1 Nonsynonymous SNV E260K 0.014 0.01 0.01 2 17 4 0.005 3 0 0 0 0 Benign 23.3 79873 chr14 55510284 55510284 G A rs61734083 SOCS4 Synonymous SNV Q175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 79874 chr13 73482747 73482747 C A rs115858628 PIBF1 Nonsynonymous SNV H523N 0.015 0.018 0.014 6 18 7 0.015 4 0 0 1 0 Benign 22.5 79875 chr2 198270017 198270017 T C rs35493573 SF3B1 Synonymous SNV Q473Q 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Benign 0.489 79876 chr2 198334871 198334871 A C rs140640160 COQ10B Synonymous SNV P125P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 3.6 79877 chr2 241402836 241402836 G A rs150681136 GPC1 Nonsynonymous SNV G264S 0.039 0.023 0.027 9 46 9 0.023 8 3 0 0 0 7.527 79878 chr2 241405483 241405483 G A rs61737165 GPC1 Nonsynonymous SNV G485S 0.032 0.023 0.014 6 37 9 0.015 4 2 0 0 0 21.2 79879 chr2 220370192 220370192 C T rs146215853 GMPPA Synonymous SNV Y256Y 0.011 0.01 0.01 2 13 4 0.005 3 1 0 0 0 Benign/Likely benign 12.99 79880 chr3 111264008 111264008 C A rs145133367 CD96 Synonymous SNV S59S 0.001 0.016 0.007 1 1 6 0.003 2 0 0 0 0 Likely benign 14.65 79881 chr14 55895617 55895617 G A rs149307233 TBPL2 Synonymous SNV L288L 0.012 0.023 0.01 2 14 9 0.005 3 0 0 0 0 13.72 79882 chr3 111312773 111312773 G A rs369180696 ZBED2 Synonymous SNV N92N 0 0.01 0.003 1 0 4 0.003 1 0 0 0 0 10.18 79883 chr2 241463639 241463639 C T rs3796119 ANKMY1 Nonsynonymous SNV E180K 0.036 0.026 0.02 6 42 10 0.015 6 3 0 0 0 12.46 79884 chr2 26686872 26686872 G A rs111033393 OTOF Nonsynonymous SNV T998M 0.011 0.005 0 4 13 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 79885 chr3 197401934 197401934 G A rs114222731 RUBCN Synonymous SNV P958P 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 8.323 79886 chr3 197422844 197422844 G A rs147227348 RUBCN Nonsynonymous SNV R456W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 79887 chr19 2434059 2434059 C T rs200293412 LMNB2 Nonsynonymous SNV R416Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 79888 chr19 24346024 24346024 A G rs10500223 HAVCR1P1 0 0 0.146 0 0 0 0 43 0 0 3 0 8.943 79889 chr3 27427509 27427509 A C rs372169196 SLC4A7 Synonymous SNV L994L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.578 79890 chr2 203922075 203922075 A G rs146121994 NBEAL1 Synonymous SNV E138E 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 3.213 79891 chr3 30664714 30664714 G A rs61732532 TGFBR2 Nonsynonymous SNV D40N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.384 79892 chr2 242129524 242129524 G A rs34069570 ANO7 Nonsynonymous SNV D16N 0.038 0.023 0.044 10 45 9 0.026 13 1 0 0 0 0.106 79893 chr2 204058557 204058557 C G rs114408639 NBEAL1 Nonsynonymous SNV Q2292E 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 19.66 79894 chr19 3179075 3179075 G A rs34573539 S1PR4 Synonymous SNV T95T 0.014 0.008 0.017 3 17 3 0.008 5 0 0 0 0 Benign 11.94 79895 chr2 27594142 27594142 A C rs147740391 SNX17 Nonsynonymous SNV N24H 0.007 0.008 0.017 0 8 3 0 5 0 0 0 0 26.6 79896 chr2 228104936 228104936 G T rs187950806 COL4A3 Synonymous SNV P74P 0.004 0.003 0.01 4 5 1 0.01 3 0 0 0 0 Benign/Likely benign 7.022 79897 chr2 27804501 27804501 A G rs760433345 C2orf16 Nonsynonymous SNV S1688G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.87 79898 chr3 33704962 33704962 G A rs185871021 CLASP2 Synonymous SNV G230G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.05 79899 chr3 38158051 38158051 A - DLEC1 N1325Mfs*109 0.001 0 0 0 1 0 0 0 0 0 0 0 79900 chr19 35505292 35505292 G A rs192263602 GRAMD1A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.1 79901 chr3 37365630 37365630 G A rs76787280 GOLGA4 Synonymous SNV E751E 0.004 0.003 0.017 2 5 1 0.005 5 0 0 0 0 10.74 79902 chr3 38649647 38649647 G A rs757715398 SCN5A Synonymous SNV D331D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.965 79903 chr3 38739494 38739494 G A rs116353929 SCN10A Synonymous SNV D1641D 0.015 0.016 0.017 5 18 6 0.013 5 0 0 0 1 Benign 2.949 79904 chr3 120357318 120357318 C G HGD Nonsynonymous SNV R330S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 79905 chr2 209138313 209138313 G A rs199642033 PIKFYVE Nonsynonymous SNV A60T 0.009 0.003 0 0 10 1 0 0 0 0 0 0 13.29 79906 chr19 35898641 35898641 T C rs16970293 LINC01531 0 0 0.068 0 0 0 0 20 0 0 1 0 2.549 79907 chr19 35899037 35899037 T C rs113510419 LINC01531 0 0 0.048 0 0 0 0 14 0 0 1 0 0.787 79908 chr19 35899692 35899695 GTTT - rs113902498 LINC01531 0 0 0.051 0 0 0 0 15 0 0 1 0 79909 chr14 68046582 68046582 G T PLEKHH1 Stop gain G1058X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 79910 chr14 68145080 68145080 C T RDH11 Synonymous SNV L235L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 79911 chr3 38607942 38607942 G A rs371610895 SCN5A Synonymous SNV Y1212Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.558 79912 chr14 68250217 68250217 T G ZFYVE26 Nonsynonymous SNV N1218H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.517 79913 chr2 33007710 33007710 C T rs138656306 TTC27 Synonymous SNV N549N 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 12.98 79914 chr2 33820635 33820635 C T rs72785999 FAM98A Synonymous SNV E41E 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 14.71 79915 chr13 111940783 111940783 C T rs755875926 ARHGEF7 Synonymous SNV L474L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 7.035 79916 chr13 111991681 111991681 C T rs61740203 TEX29 Nonsynonymous SNV P45L 0.026 0.026 0.02 6 31 10 0.015 6 0 0 0 0 5.647 79917 chr19 36258874 36258874 C T rs757288967 PROSER3 Nonsynonymous SNV P376L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.385 79918 chr19 36341974 36341974 G A NPHS1 Synonymous SNV L139L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.347 79919 chr3 40529705 40529705 C T rs149140337 ZNF619 Synonymous SNV S524S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.057 79920 chr3 39230727 39230727 A C XIRP1 Synonymous SNV A70A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 79921 chr2 29293606 29293606 G A rs188815175 PCARE Synonymous SNV D1174D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 0.055 79922 chr19 36591695 36591695 C G rs367800220 WDR62 Nonsynonymous SNV P929A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 79923 chr19 36604360 36604360 C A rs61736267 OVOL3 Synonymous SNV R124R 0.008 0.008 0.017 3 9 3 0.008 5 0 0 0 0 14.06 79924 chr3 42605031 42605031 G A rs146161491 SEC22C Synonymous SNV Y110Y 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 8.696 79925 chr19 37129665 37129665 C T rs371711829 ZNF461 Nonsynonymous SNV G505R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 79926 chr2 42281312 42281312 G A rs34372645 PKDCC Nonsynonymous SNV R300H 0.004 0 0.007 0 5 0 0 2 0 0 0 0 29.1 79927 chr14 74401030 74401030 G A rs45609933 FAM161B Nonsynonymous SNV P625S 0.038 0.029 0.037 19 45 11 0.049 11 0 0 0 0 12.27 79928 chr2 238436112 238436112 G A rs369514614 MLPH Nonsynonymous SNV A285T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.057 79929 chr3 44285485 44285485 A G rs553067005 TOPAZ1 Nonsynonymous SNV Y496C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.536 79930 chr2 3623268 3623268 C T rs763157114 RPS7 Synonymous SNV I23I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 79931 chr2 239166952 239166952 C T rs751641234 PER2 Nonsynonymous SNV R622Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 79932 chr3 45266662 45266662 A G rs760468246 TMEM158 Synonymous SNV A286A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.145 79933 chr2 50765559 50765559 T G NRXN1 Nonsynonymous SNV M631L 0.006 0 0 0 7 0 0 0 0 0 0 0 10.48 79934 chr3 125855634 125855634 A G rs9282694 ALDH1L1 Synonymous SNV S338S 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 0.224 79935 chr3 45637230 45637230 G C rs74851793 LIMD1 Nonsynonymous SNV V287L 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 0.008 79936 chr14 76620871 76620871 A G rs143333944 GPATCH2L Synonymous SNV A55A 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 8.149 79937 chr14 21460333 21460333 C T METTL17 Nonsynonymous SNV R139C 0.011 0.005 0 2 13 2 0.005 0 0 0 0 0 31 79938 chr14 77275418 77275418 C T rs116994099 ANGEL1 Synonymous SNV V211V 0.019 0.021 0.017 6 22 8 0.015 5 0 1 0 0 9.982 79939 chr3 45821573 45821573 G C rs2742399 SLC6A20 Synonymous SNV V94V 0.015 0.016 0.031 3 18 6 0.008 9 0 0 0 0 Likely benign 9.547 79940 chr3 46008108 46008108 A G rs114548859 FYCO1 Synonymous SNV A906A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 0.535 79941 chr3 46399965 46399965 T A CCR2 Nonsynonymous SNV L316H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.418 79942 chr19 38385452 38385452 G A rs189211881 WDR87 Synonymous SNV T297T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.145 79943 chr3 46008820 46008820 C T rs141155944 FYCO1 Nonsynonymous SNV S669N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 13.34 79944 chr2 241659285 241659285 C T rs200141437 KIF1A Nonsynonymous SNV D1542N 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 Uncertain significance 21.9 79945 chr3 46008841 46008841 G A rs150785981 FYCO1 Nonsynonymous SNV S662F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 26 79946 chr2 241700141 241700141 G A rs62637652 KIF1A Synonymous SNV A786A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 15.76 79947 chr2 220337670 220337670 G A rs55684906 SPEG Synonymous SNV T1333T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 15.56 79948 chr3 46306765 46306765 C T rs5742906 CCR3 Nonsynonymous SNV P39L 0.019 0.01 0.003 4 22 4 0.01 1 0 0 0 0 11.32 79949 chr3 46449175 46449175 G A rs11574441 CCRL2 Nonsynonymous SNV R5H 0.01 0.003 0.003 5 12 1 0.013 1 0 0 0 0 1.49 79950 chr3 46449890 46449890 T C rs200793737 CCRL2 Nonsynonymous SNV I119T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.004 79951 chr3 128634113 128634113 C T rs997214482 KIAA1257 Stop gain W752X 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 42 79952 chr19 38877255 38877255 G T rs117848007 GGN Nonsynonymous SNV A216D 0.001 0 0.01 0 1 0 0 3 0 0 0 0 2.857 79953 chr3 46450302 46450302 G A rs776310116 CCRL2 Nonsynonymous SNV M256I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.11 79954 chr19 38901578 38901578 C T rs117355762 RASGRP4 Nonsynonymous SNV R449H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.88 79955 chr3 128751670 128751670 G A rs73210702 EFCC1 Nonsynonymous SNV E382K 0.031 0.031 0.014 8 36 12 0.021 4 1 0 0 0 26.2 79956 chr3 46658775 46658775 C T rs148870990 FAM240A Stop gain R40X 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 9.254 79957 chr3 128781016 128781016 G A rs571825199 GP9 Nonsynonymous SNV R145H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.01 79958 chr3 4687139 4687139 C T rs545754582 ITPR1 Synonymous SNV D231D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 15.97 79959 chr2 241874902 241874902 T C CROCC2 Nonsynonymous SNV L689P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 79960 chr3 129127655 129127655 C A rs561754408 EFCAB12 Nonsynonymous SNV R361L 0 0.003 0 0 0 1 0 0 0 0 0 0 27 79961 chr3 46719766 46719766 C T rs77039876 ALS2CL Synonymous SNV P580P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.661 79962 chr3 4704816 4704816 G A rs41289628 ITPR1 Nonsynonymous SNV V479I 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 79963 chr3 46724714 46724714 C T rs111670240 ALS2CL Nonsynonymous SNV D339N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.042 79964 chr3 47451031 47451031 G A rs771582644 PTPN23 Nonsynonymous SNV R515Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 79965 chr2 44104954 44104954 G A rs113005049 ABCG8 Nonsynonymous SNV A641T 0.01 0.003 0.003 2 12 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.67 79966 chr2 220430133 220430133 C T rs142650279 OBSL1 Synonymous SNV P746P 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 Benign/Likely benign 14.72 79967 chr3 47455688 47455688 C T rs151014440 SCAP Synonymous SNV K936K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.52 79968 chr3 130116456 130116456 G A rs756549440 COL6A5 Nonsynonymous SNV D1200N 0 0.005 0 0 0 2 0 0 0 0 0 0 23.1 79969 chr2 68361859 68361859 C T rs138784630 WDR92 Nonsynonymous SNV A281T 0.024 0.021 0.014 5 28 8 0.013 4 0 0 0 0 23.4 79970 chr3 47284676 47284676 A C rs139083698 KIF9 Nonsynonymous SNV V525G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.983 79971 chr2 220506438 220506438 C T SLC4A3 Synonymous SNV H1256H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.13 79972 chr2 242203959 242203959 T C rs746229374 HDLBP Synonymous SNV P46P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.503 79973 chr2 71043293 71043293 G A rs61740120 CLEC4F Nonsynonymous SNV T407I 0.009 0.01 0 0 10 4 0 0 0 0 0 0 0.026 79974 chr3 132408070 132408070 C T rs370506189 NPHP3 Nonsynonymous SNV V911I 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Uncertain significance 19.27 79975 chr14 23818620 23818620 C T rs141228721 SLC22A17 Synonymous SNV G129G 0.014 0.016 0.003 0 17 6 0 1 0 0 0 0 Benign 12.68 79976 chr3 48955972 48955972 A T ARIH2OS 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 79977 chr2 227917090 227917090 T C rs80243096 COL4A4 Nonsynonymous SNV I967V 0.015 0.013 0.007 4 18 5 0.01 2 0 0 0 0 Benign 1.014 79978 chr3 133331279 133331279 T G TOPBP1 Nonsynonymous SNV H1325P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.8 79979 chr2 55615950 55615950 T C rs147639776 CCDC88A Synonymous SNV L79L 0.007 0.005 0.01 6 8 2 0.015 3 0 0 0 0 Benign 4.566 79980 chr3 48664473 48664473 C T rs59643945 SLC26A6 Nonsynonymous SNV D529N 0.007 0.013 0.02 2 8 5 0.005 6 0 0 0 0 7.686 79981 chr3 49012411 49012411 C T rs144016129 ARIH2 Synonymous SNV H178H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 79982 chr2 73315456 73315456 C T rs140983118 RAB11FIP5 Synonymous SNV E430E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.373 79983 chr19 40876028 40876028 C T PLD3 Nonsynonymous SNV R188C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 79984 chr2 230096759 230096759 C A rs138237177 PID1 Synonymous SNV L4L 0.007 0.021 0.007 5 8 8 0.013 2 0 0 0 0 4.44 79985 chr19 40901999 40901999 G A rs372473354 PRX Nonsynonymous SNV R754W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 79986 chr14 24572410 24572410 G A rs199675343 PCK2 Nonsynonymous SNV V338M 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 33 79987 chr2 24484531 24484531 A G rs41281489 ITSN2 Synonymous SNV Y772Y 0.011 0.003 0.007 1 13 1 0.003 2 0 0 0 0 0.334 79988 chr19 4099272 4099272 G A rs11539506 MAP2K2 Synonymous SNV P282P 0.003 0 0.014 2 4 0 0.005 4 0 0 0 0 Benign 9.071 79989 chr2 62729593 62729593 G A rs139384662 TMEM17 Synonymous SNV Y99Y 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 11.08 79990 chr19 41188847 41188847 C G rs146512935 NUMBL Nonsynonymous SNV E51D 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 24 79991 chr14 24709506 24709506 C T rs184422577 TINF2 Synonymous SNV L329L 0.003 0.013 0.007 0 4 5 0 2 0 0 0 0 Benign/Likely benign 12.99 79992 chr3 49828873 49828873 C T rs147683073 CDHR4 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 13.3 79993 chr2 64189501 64189501 G A rs145938741 VPS54 Nonsynonymous SNV A222V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 79994 chr3 50339622 50339622 C T rs116482870 HYAL1 Nonsynonymous SNV G256R 0.037 0.055 0.041 22 44 21 0.056 12 0 0 0 1 Benign 14.2 79995 chr2 231973567 231973568 AT - HTR2B Y370Cfs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 79996 chr3 51812953 51812953 G A rs143496028 IQCF6 Nonsynonymous SNV R4W 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 25 79997 chr3 49940820 49940820 G T rs35887539 MST1R Nonsynonymous SNV R75S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 29.5 79998 chr2 65482729 65482729 G A rs148755282 ACTR2 Synonymous SNV T212T 0.003 0 0.003 6 3 0 0.015 1 0 0 0 0 15.76 79999 chr3 49967161 49967161 C T rs553572587 MON1A Synonymous SNV P53P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.59 80000 chr14 24884667 24884667 A G rs144623810 NYNRIN Nonsynonymous SNV T1238A 0.03 0.026 0.017 15 35 10 0.038 5 1 0 0 0 0.027 80001 chr3 50095213 50095213 C T rs147018443 RBM6 Synonymous SNV S60S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 80002 chr2 74687665 74687665 G C rs144923360 WBP1 Nonsynonymous SNV G223R 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 8.798 80003 chr2 68365911 68365911 T C rs376459490 WDR92 Nonsynonymous SNV N199S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 12.53 80004 chr3 51748082 51748082 C T rs781122332 GRM2 Synonymous SNV T14T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.555 80005 chr2 27426126 27426126 C A rs146071245 SLC5A6 Synonymous SNV R394R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 18.89 80006 chr3 5255176 5255176 A G rs146114575 EDEM1 Nonsynonymous SNV H618R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.47 80007 chr3 138188943 138188945 CTC - rs776044854 ESYT3 S516del 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 80008 chr19 4216829 4216829 G A rs61738959 ANKRD24 Nonsynonymous SNV G558R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 80009 chr14 31354852 31354852 T C LOC100506071 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.046 80010 chr19 425193 425193 C A rs757269052 SHC2 Nonsynonymous SNV G405C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 80011 chr19 4262036 4262036 C T rs8106603 YJU2 Synonymous SNV S211S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.99 80012 chr19 42730360 42730360 C T rs376501255 ZNF526 Nonsynonymous SNV T602M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 80013 chr3 14173129 14173129 G A rs143535006 TMEM43 Nonsynonymous SNV R116Q 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 80014 chr19 4292874 4292874 A G rs28638429 TMIGD2 Nonsynonymous SNV F71L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 80015 chr3 52505850 52505850 G A rs149595998 NISCH Nonsynonymous SNV G144S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.6 80016 chr19 4307884 4307884 G A rs35484545 FSD1 Synonymous SNV Q83Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.959 80017 chr19 4359191 4359191 C T rs34522164 MPND Nonsynonymous SNV P403L 0.03 0.036 0.014 11 35 14 0.028 4 0 0 0 1 32 80018 chr2 29294803 29294803 G A rs750088901 PCARE Synonymous SNV A775A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.154 80019 chr19 43983597 43983597 C T rs200179651 PHLDB3 Nonsynonymous SNV R545H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.8 80020 chr14 102749824 102749824 C G rs34114580 MOK Nonsynonymous SNV R38P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 80021 chr2 71891489 71891489 G A rs375068646 DYSF Nonsynonymous SNV G1646S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 33 80022 chr2 30142903 30142903 A G rs372226787 ALK Nonsynonymous SNV I208T 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Uncertain significance 23.4 80023 chr2 73659373 73659373 G A rs749794703 ALMS1 Synonymous SNV R462R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.74 80024 chr19 44417737 44417737 A G rs138087772 ZNF45 Synonymous SNV C617C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.683 80025 chr19 44418394 44418394 G A rs147847594 ZNF45 Synonymous SNV C398C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.043 80026 chr2 238253093 238253093 G A COL6A3 Nonsynonymous SNV S1916F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.25 80027 chr3 62358505 62358505 C G rs192509891 FEZF2 Synonymous SNV P13P 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 1 10.93 80028 chr14 100069730 100069730 C T CCDC85C Synonymous SNV P189P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.786 80029 chr3 149048180 149048180 C G rs150384722 TM4SF18 Synonymous SNV L68L 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 1.858 80030 chr2 97357582 97357582 C T rs755180256 FER1L5 Synonymous SNV H1032H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.553 80031 chr2 32842895 32842895 G A rs151018053 BIRC6 Nonsynonymous SNV G4833D 0.001 0.003 0.017 1 1 1 0.003 5 0 0 0 0 12.33 80032 chr3 66457877 66457877 T G LRIG1 Nonsynonymous SNV E325A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.53 80033 chr2 32865434 32865434 G A rs77321087 TTC27 Nonsynonymous SNV R115H 0.019 0.029 0.034 6 22 11 0.015 10 0 0 0 0 23.7 80034 chr3 151154923 151154923 T A rs3732775 IGSF10 Nonsynonymous SNV R503W 0.014 0.029 0.01 4 16 11 0.01 3 0 2 0 0 25 80035 chr2 3691669 3691669 C T rs114716171 COLEC11 Synonymous SNV T185T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 9.091 80036 chr2 239072506 239072506 G A rs117194634 ERFE Nonsynonymous SNV V185M 0.009 0.01 0.007 2 10 4 0.005 2 0 0 0 0 3.912 80037 chr2 239072806 239072806 G T rs111241405 ERFE Nonsynonymous SNV A260S 0.011 0.018 0.031 5 13 7 0.013 9 0 0 0 0 9.904 80038 chr2 239098594 239098594 T C rs34371548 ILKAP Nonsynonymous SNV I66M 0.009 0.01 0.007 2 10 4 0.005 2 0 0 0 0 1.265 80039 chr3 8675447 8675447 C T rs112366230 SSUH2 Nonsynonymous SNV A82T 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 Benign 27.5 80040 chr3 58849343 58849343 C T rs34631714 C3orf67 Nonsynonymous SNV V457M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.57 80041 chr2 241463487 241463487 A T ANKMY1 Nonsynonymous SNV S230R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.81 80042 chr3 108288326 108288326 A G rs61753636 CIP2A Synonymous SNV T341T 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 2.278 80043 chr2 86374842 86374842 T C rs200238227 IMMT Nonsynonymous SNV K505E 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 24.1 80044 chr3 108476019 108476019 G A rs34125628 RETNLB Nonsynonymous SNV S5F 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 1.327 80045 chr19 4498000 4498000 G A rs11878277 HDGFL2 Synonymous SNV S458S 0.026 0.042 0.02 9 31 16 0.023 6 0 0 0 1 7.548 80046 chr2 241569669 241569669 G A rs147336244 GPR35 Synonymous SNV R100R 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 1 Benign 11.83 80047 chr2 39893495 39893495 C A rs377194329 TMEM178A Synonymous SNV I127I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 80048 chr14 105766928 105766928 G A rs1011334389 BRF1 Synonymous SNV D13D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 80049 chr3 108672514 108672514 G A rs6783631 GUCA1C Synonymous SNV S32S 0.002 0.005 0.01 0 2 2 0 3 0 0 1 0 13.14 80050 chr2 241816972 241816972 C T rs180177290 AGXT Nonsynonymous SNV R289C 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Uncertain significance 32 80051 chr3 67054634 67054634 G A rs766019780 KBTBD8 Nonsynonymous SNV D415N 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 24.8 80052 chr3 108782075 108782075 C A rs74456733 MORC1 Nonsynonymous SNV K273N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 80053 chr19 4511479 4511479 A G rs138464610 PLIN4 Synonymous SNV T831T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.001 80054 chr3 9783081 9783081 C T rs73021442 BRPF1 Synonymous SNV L604L 0.013 0.021 0.007 2 15 8 0.005 2 0 0 0 0 18.39 80055 chr19 4511502 4511507 CGGTCT - PLIN4 K822_V824delinsM 0 0 0.003 1 0 0 0.003 1 0 0 0 0 80056 chr19 4511510 4511602 GCCGTGTCTACACCCATCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTGCACACAGCATCCTTGGTACCAGTTAACACA - PLIN4 V791_A821del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 80057 chr19 4511638 4511638 T C rs113780287 PLIN4 Synonymous SNV K778K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 80058 chr3 73111624 73111624 T A rs200840536 EBLN2 Nonsynonymous SNV F131Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 2.044 80059 chr15 23892396 23892396 G A rs572249702 MAGEL2 Nonsynonymous SNV P165L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.194 80060 chr2 95947744 95947744 C T rs541032487 PROM2 Synonymous SNV I541I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 80061 chr14 56084687 56084687 G A rs192960670 KTN1 Nonsynonymous SNV V223I 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 21.2 80062 chr19 4512007 4512007 C T rs114809174 PLIN4 Synonymous SNV T655T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 80063 chr19 4523884 4523884 G A rs75748078 PLIN5 Nonsynonymous SNV R350C 0.03 0.029 0.02 7 35 11 0.018 6 2 0 0 0 23.7 80064 chr3 77623814 77623814 A G rs771754325 ROBO2 Synonymous SNV V712V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.2 80065 chr14 58047889 58047889 T C rs17093366 SLC35F4 Nonsynonymous SNV I281V 0.014 0.021 0.014 8 16 8 0.021 4 0 1 0 0 5.174 80066 chr2 47607081 47607081 A G rs115283528 EPCAM Nonsynonymous SNV I277M 0.005 0.008 0.01 4 6 3 0.01 3 0 0 0 0 Benign/Likely benign 15.12 80067 chr3 112349030 112349030 C T rs148347536 CCDC80 Synonymous SNV R655R 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 16.33 80068 chr3 9101963 9101963 G A rs143061036 SRGAP3 Synonymous SNV N251N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 11.95 80069 chr3 171405336 171405336 T G rs747847656 PLD1 Nonsynonymous SNV K526N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.77 80070 chr4 100479222 100479222 T G rs201275067 TRMT10A Nonsynonymous SNV H111P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 80071 chr3 172166060 172166060 G A rs2232166 GHSR Synonymous SNV A48A 0.009 0.005 0.01 3 10 2 0.008 3 0 0 1 0 Benign 8.712 80072 chr2 26700636 26700636 G C rs111033427 OTOF Synonymous SNV T42T 0.006 0.016 0 2 7 6 0.005 0 0 0 0 0 Benign/Likely benign 0.228 80073 chr3 113753801 113753801 C T rs61741386 CCDC191 Synonymous SNV R241R 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 15.32 80074 chr3 107097072 107097072 T C rs34158098 CCDC54 Nonsynonymous SNV I213T 0.021 0.026 0 9 25 10 0.023 0 0 1 0 0 1.747 80075 chr19 4689660 4689660 G A rs28432069 DPP9 Synonymous SNV Y557Y 0.002 0.005 0.003 0 2 2 0 1 1 0 0 0 11.76 80076 chr4 103505961 103505961 C T rs4648039 NFKB1 Synonymous SNV Y349Y 0.022 0.034 0.034 7 26 13 0.018 10 0 1 0 0 1.339 80077 chr2 5833361 5833361 C A SOX11 Nonsynonymous SNV L170I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.79 80078 chr3 182679126 182679126 T C rs144588807 DCUN1D1 Synonymous SNV K121K 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 7.432 80079 chr15 35149171 35149171 C T rs573724519 AQR Nonsynonymous SNV R1427H 0.003 0 0 0 3 0 0 0 0 0 0 0 15.62 80080 chr3 9970121 9970121 C T rs115419420 IL17RC Nonsynonymous SNV P297L 0.014 0.031 0.02 8 17 12 0.021 6 1 0 0 0 Benign 13.14 80081 chr4 104055000 104055000 A G rs114550642 CENPE Nonsynonymous SNV I2070T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 20.1 80082 chr2 27479255 27479255 G T rs140122355 SLC30A3 Synonymous SNV I326I 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 13.4 80083 chr19 48032842 48032842 C T rs933425416 ZNF541 Nonsynonymous SNV R1158H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 80084 chr4 100064368 100064368 G C rs13125262 ADH4 Nonsynonymous SNV F8L 0.035 0.023 0.031 7 41 9 0.018 9 0 0 0 0 0.194 80085 chr15 40564728 40564728 G A rs145336671 BUB1B-PAK6, PAK6 Nonsynonymous SNV E388K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 80086 chr3 183952130 183952130 A G rs112534894 VWA5B2 Synonymous SNV T36T 0.007 0.003 0.014 3 8 1 0.008 4 0 0 0 0 0.359 80087 chr3 183957218 183957218 C T rs113200353 VWA5B2 Nonsynonymous SNV H529Y 0.007 0.003 0.014 3 8 1 0.008 4 0 0 0 0 5.264 80088 chr3 184039767 184039775 AGGAGAAGC - rs111659103 EIF4G1 G276_A278del 0.009 0.005 0.024 4 11 2 0.01 7 0 0 0 0 80089 chr2 71036270 71036270 G A rs60744039 CLEC4F Nonsynonymous SNV H555Y 0 0 0.007 1 0 0 0.003 2 0 0 0 0 2.575 80090 chr3 184045410 184045410 T C rs2230570 EIF4G1 Nonsynonymous SNV L1038P 0.011 0.008 0.014 3 13 3 0.008 4 0 0 0 0 0.654 80091 chr15 41100489 41100489 C A rs745446153 ZFYVE19 Nonsynonymous SNV H54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.205 80092 chr2 71036417 71036417 T C rs77576589 CLEC4F Nonsynonymous SNV I586V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22.6 80093 chr4 103518700 103518700 A G rs4648072 NFKB1 Nonsynonymous SNV M506V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign/Likely benign 4.273 80094 chr15 41501721 41501721 T C rs201505411 EXD1 Nonsynonymous SNV H113R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 80095 chr19 4902722 4902722 A G rs8104713 ARRDC5 Nonsynonymous SNV I39T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 80096 chr4 104066273 104066273 T G rs61751594 CENPE Nonsynonymous SNV R1572S 0.01 0.005 0.017 3 12 2 0.008 5 0 0 1 0 Conflicting interpretations of pathogenicity 0.354 80097 chr19 49183284 49183284 G A rs3826838 SEC1P 0 0 0.065 0 0 0 0 19 0 0 1 0 0.151 80098 chr4 107016789 107016789 A G rs144998853 TBCK Synonymous SNV R744R 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 5.971 80099 chr15 42143538 42143538 G A rs75456764 SPTBN5 Synonymous SNV R3562R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.763 80100 chr3 187089131 187089131 - A rs769430827 RTP4 Frameshift insertion I238Nfs*25 0 0.008 0 4 0 3 0.01 0 0 0 0 0 80101 chr3 190039849 190039849 C T rs142242567 CLDN1 Synonymous SNV G49G 0.005 0.01 0.02 4 6 4 0.01 6 0 0 0 0 Benign 17.81 80102 chr14 74727407 74727407 G A rs75395981 VSX2 Nonsynonymous SNV D291N 0.016 0.013 0.014 8 19 5 0.021 4 0 0 0 1 Benign 23 80103 chr4 123171659 123171659 T A rs56363411 KIAA1109 Nonsynonymous SNV D1951E 0.024 0.023 0.02 9 28 9 0.023 6 0 0 0 0 12.79 80104 chr3 124829057 124829057 A G rs11714448 SLC12A8 Synonymous SNV P345P 0.013 0.005 0.014 4 15 2 0.01 4 0 0 0 0 11.01 80105 chr2 74653661 74653661 G T rs75008208 RTKN Synonymous SNV I467I 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 6.49 80106 chr19 50098268 50098268 C A rs146291703 PRR12 Nonsynonymous SNV P226T 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 22.8 80107 chr19 50104825 50104825 C A rs201085398 PRR12 Nonsynonymous SNV P1475T 0.004 0 0.007 0 5 0 0 2 0 0 0 0 16.52 80108 chr3 193360769 193360769 A G rs150807064 OPA1 Synonymous SNV A321A 0.008 0.008 0.014 1 9 3 0.003 4 0 0 0 0 Benign/Likely benign 11.45 80109 chr19 50193639 50193639 C T rs527662824 ADM5 Synonymous SNV L117L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.609 80110 chr19 50216842 50216842 A G rs113511313 CPT1C Nonsynonymous SNV M798V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.001 80111 chr14 77493499 77493499 G A rs904683158 IRF2BPL Nonsynonymous SNV R213C 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 25.8 80112 chr19 50412942 50412942 C A rs150463164 NUP62 Synonymous SNV G41G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.29 80113 chr3 126707502 126707502 G A rs375921132 PLXNA1 Synonymous SNV P22P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.145 80114 chr3 1269607 1269607 C T rs61739199 CNTN6 Synonymous SNV G24G 0.009 0.005 0.017 1 10 2 0.003 5 0 0 0 0 Benign 7.104 80115 chr4 129003375 129003375 A G rs148060340 LARP1B Synonymous SNV Q91Q 0.013 0.013 0.01 3 15 5 0.008 3 0 0 0 0 5.879 80116 chr19 50832025 50832025 C G rs368049323 KCNC3 Synonymous SNV T105T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 14.83 80117 chr19 50839915 50839915 C T rs145966982 NAPSB 0 0 0.014 0 0 0 0 4 0 0 0 0 14.75 80118 chr15 43544958 43544958 T C rs750167109 TGM5 Synonymous SNV T205T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 13.41 80119 chr15 43571463 43571463 G A rs148818002 TGM7 Nonsynonymous SNV P564L 0.026 0.026 0.014 5 31 10 0.013 4 0 0 0 0 22.8 80120 chr14 77880308 77880308 C T rs150937652 NOXRED1 Synonymous SNV L106L 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 15.15 80121 chr15 43622551 43622551 G A rs371321530 LCMT2 Nonsynonymous SNV A46V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.05 80122 chr4 122724098 122724098 C T rs747801924 EXOSC9 Stop gain R104X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 38 80123 chr3 123368043 123368043 - GG rs200371896 MYLK 0.003 0.008 0 0 4 3 0 0 0 0 0 0 80124 chr19 51016200 51016200 C T rs116995433 ASPDH Nonsynonymous SNV R34H 0.014 0.013 0.014 5 16 5 0.013 4 0 0 0 0 19.65 80125 chr4 13605290 13605290 C T rs77721525 BOD1L1 Synonymous SNV L1078L 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 7.176 80126 chr19 51302716 51302716 G A rs3810284 SNORD88A 0 0 0.122 0 0 0 0 36 0 0 4 0 15.66 80127 chr19 51325061 51325061 C T rs767575395 KLK1 Stop gain W38X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 80128 chr2 9540915 9540915 A G rs41264169 ASAP2 Nonsynonymous SNV M882V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 80129 chr3 196754651 196754651 G A rs202022673 MELTF Synonymous SNV A60A 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 5.303 80130 chr3 197249604 197249604 G A rs556792301 BDH1 Stop gain R106X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 80131 chr4 128811117 128811117 G C rs56043017 PLK4 Nonsynonymous SNV W487S 0.026 0.01 0.041 12 30 4 0.031 12 0 0 0 0 24.6 80132 chr2 97216846 97216846 G A rs150396730 ARID5A Nonsynonymous SNV G30E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.62 80133 chr3 25651085 25651085 T C TOP2B Nonsynonymous SNV K1297R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.28 80134 chr15 48725121 48725121 T G rs363824 FBN1 Synonymous SNV S2227S 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.787 80135 chr14 92560091 92560091 T C rs781706817 ATXN3 Nonsynonymous SNV I37V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.69 80136 chr4 140278688 140278688 C T rs780635807 NAA15 Synonymous SNV L412L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 80137 chr3 127294041 127294041 G A rs143003698 TPRA1 Nonsynonymous SNV P226L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 80138 chr3 32030998 32030998 C T rs4639011 ZNF860 Stop gain R143X 0.034 0.039 0.041 5 40 15 0.013 12 0 0 1 0 25.1 80139 chr3 100096729 100096729 A G TOMM70 Synonymous SNV Y304Y 0 0 0 3 0 0 0.008 0 0 0 0 0 0.25 80140 chr2 58387295 58387295 G C FANCL Nonsynonymous SNV T352S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.11 80141 chr3 101476937 101476937 A T rs546587338 CEP97 Nonsynonymous SNV D437V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.137 80142 chr3 129140454 129140454 G A EFCAB12 Nonsynonymous SNV P81L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.015 80143 chr3 135797232 135797232 A G rs61756431 PPP2R3A Synonymous SNV T120T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 1.401 80144 chr4 151504878 151504878 C T MAB21L2 Stop gain Q233X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 80145 chr4 155655 155655 C G rs144152312 ZNF718 Nonsynonymous SNV P394A 0.019 0.018 0.007 4 22 7 0.01 2 0 0 0 0 7.888 80146 chr3 137849888 137849888 C T rs79791762 A4GNT Nonsynonymous SNV V71I 0.026 0.029 0.034 12 30 11 0.031 10 0 0 0 0 23.3 80147 chr3 130150660 130150660 T G COL6A5 Nonsynonymous SNV V1867G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.6 80148 chr19 53116331 53116331 T C rs114253858 ZNF83 Nonsynonymous SNV D496G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.29 80149 chr2 69206042 69206042 A G rs771990167 GKN1 Nonsynonymous SNV I96V 0.003 0 0 0 4 0 0 0 0 0 0 0 9.358 80150 chr4 156294339 156294339 T C rs200592524 MAP9 Nonsynonymous SNV I144V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.735 80151 chr4 157688991 157688991 G C rs142817291 PDGFC Synonymous SNV A285A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 6.662 80152 chr3 11068011 11068011 C T rs144666962 SLC6A1 Synonymous SNV V170V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 16.25 80153 chr4 159627406 159627406 G C rs558005496 ETFDH Nonsynonymous SNV V390L 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 23.3 80154 chr3 132218075 132218075 C T rs61748102 DNAJC13 Nonsynonymous SNV A1421V 0.011 0.008 0.01 8 13 3 0.021 3 0 0 0 0 27.8 80155 chr15 62221926 62221926 G A rs142537492 VPS13C Synonymous SNV D1977D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9 80156 chr19 54188326 54188326 T C MIR515-1, MIR515-2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.227 80157 chr19 54515341 54515341 C T rs147610426 CACNG6 Synonymous SNV A156A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.6 80158 chr15 63862721 63862721 C T rs34080979 USP3 Nonsynonymous SNV S240F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 80159 chr2 71795104 71795104 C T rs551942312 DYSF Synonymous SNV G831G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 18.79 80160 chr3 14725878 14725878 A G rs34230332 C3orf20 Nonsynonymous SNV Q83R 0.031 0.021 0.031 12 36 8 0.031 9 0 0 0 0 0.015 80161 chr3 134084727 134084727 C T rs139298691 AMOTL2 Nonsynonymous SNV R462H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.9 80162 chr4 164436475 164436475 C A rs776254255 TMA16 Synonymous SNV R84R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 80163 chr19 54966743 54966743 C T rs374831629 LENG8 Nonsynonymous SNV P341L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 80164 chr4 170359267 170359267 G C rs6828134 NEK1 Nonsynonymous SNV Q814E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.21 80165 chr4 165878606 165878606 G C rs78250286 FAM218A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.997 80166 chr3 113955524 113955524 T C rs143330045 ZNF80 Nonsynonymous SNV Y133C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 80167 chr15 65497801 65497801 G A rs145973133 CILP Nonsynonymous SNV S143F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 80168 chr2 74659761 74659761 C T rs761559590 RTKN Synonymous SNV E48E 0.003 0 0 4 3 0 0.01 0 0 0 0 0 14.02 80169 chr3 118865631 118865631 T C rs758282616 TEX55 Nonsynonymous SNV S199P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.2 80170 chr4 17506042 17506042 G A rs12645938 QDPR Synonymous SNV C54C 0.029 0.018 0.037 8 34 7 0.021 11 0 0 0 1 Benign/Likely benign 12.81 80171 chr2 74720140 74720140 C G rs183395059 TTC31 Nonsynonymous SNV P452R 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 9.825 80172 chr15 65686856 65686856 G T rs147139656 IGDCC4 Nonsynonymous SNV S536Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 80173 chr2 75116527 75116527 G A rs2229629 HK2 Nonsynonymous SNV R844K 0.015 0.003 0.027 5 18 1 0.013 8 0 0 0 0 14.29 80174 chr4 17636638 17636638 G C rs61745212 FAM184B Synonymous SNV S961S 0.009 0.013 0.01 7 11 5 0.018 3 0 0 0 0 8.943 80175 chr3 119334879 119334879 G A rs374066099 PLA1A Nonsynonymous SNV V56I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 28.2 80176 chr3 138188988 138188988 G A rs201243595 ESYT3 Synonymous SNV K530K 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 12.77 80177 chr3 119530434 119530434 G A rs371659081 NR1I2 Nonsynonymous SNV R127Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.6 80178 chr19 5560842 5560842 G A rs867550318 TINCR 0 0 0.003 0 0 0 0 1 0 0 0 0 0.663 80179 chr3 121151784 121151784 G A rs2306211 POLQ Nonsynonymous SNV A2547V 0.021 0.016 0.02 7 25 6 0.018 6 0 1 0 0 29.1 80180 chr3 140678384 140678384 - A rs770021185 SLC25A36 0.023 0.01 0.003 9 27 4 0.023 1 0 0 0 0 80181 chr3 155200461 155200461 G A rs142805530 PLCH1 Synonymous SNV S1118S 0.02 0.01 0.007 3 23 4 0.008 2 0 0 0 0 Benign 7.566 80182 chr4 18023336 18023336 G C rs577955980 LCORL Synonymous SNV A13A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.97 80183 chr3 155314114 155314114 G A rs150143990 PLCH1 Nonsynonymous SNV R33C 0.02 0.01 0.007 3 23 4 0.008 2 0 0 0 0 28.5 80184 chr19 55831502 55831502 G A rs61737281 TMEM150B Nonsynonymous SNV L77F 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 22.7 80185 chr4 1843342 1843342 T C rs62623389 LETM1 Nonsynonymous SNV H109R 0.008 0.018 0.014 8 9 7 0.021 4 0 0 0 0 22.1 80186 chr2 86315731 86315731 T C rs200317834 POLR1A Nonsynonymous SNV M230V 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 1.863 80187 chr15 72170423 72170423 T G MYO9A Nonsynonymous SNV E1963D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 80188 chr3 160141372 160141372 G A SMC4 Nonsynonymous SNV V727I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.33 80189 chr14 105695249 105695249 C T rs142328073 BRF1 Synonymous SNV A28A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.125 80190 chr4 183600887 183600887 G A rs553919743 TENM3 Synonymous SNV T465T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.593 80191 chr14 105859013 105859013 G A rs150343495 PACS2 Synonymous SNV Q681Q 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 0.21 80192 chr4 186379800 186379802 TGT - rs769750519 CCDC110 T610del 0 0.003 0 0 0 1 0 0 0 0 0 0 80193 chr3 164750441 164750441 C G rs775066014 SI Nonsynonymous SNV E869Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 80194 chr15 74474519 74474519 G T rs749666043 STRA6 Nonsynonymous SNV H501Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12 80195 chr2 95713740 95713740 T G rs780966454 MAL Nonsynonymous SNV S44A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.2 80196 chr15 74707230 74707230 G A rs139870584 SEMA7A Synonymous SNV T334T 0.015 0.008 0.003 4 18 3 0.01 1 0 0 0 0 11.78 80197 chr3 148712019 148712019 G A rs146101365 GYG1 Nonsynonymous SNV R33K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 18.39 80198 chr19 56104423 56104423 A C rs546265268 FIZ1 Nonsynonymous SNV L295R 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 Uncertain significance 21.7 80199 chr4 186294143 186294143 G A rs144800425 LRP2BP Nonsynonymous SNV R224W 0.004 0.01 0 0 5 4 0 0 0 0 0 0 31 80200 chr4 186353227 186353227 C A rs187636573 C4orf47 Synonymous SNV P64P 0.005 0.01 0 0 6 4 0 0 0 0 0 0 15.29 80201 chr3 122667552 122667552 A G rs771723490 SEMA5B Synonymous SNV L43L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 80202 chr4 187538190 187538190 T C FAT1 Nonsynonymous SNV D3015G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 80203 chr15 77067254 77067254 T C rs186407258 SCAPER Nonsynonymous SNV E80G 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 Benign 17.74 80204 chr15 77324670 77324670 G C rs34240327 PSTPIP1 Nonsynonymous SNV G258A 0.003 0.008 0.02 2 4 3 0.005 6 0 0 0 0 Benign 3.648 80205 chr19 56888454 56888454 A C rs2304125 ZNF542P 0 0 0.163 0 0 0 0 48 0 0 5 0 4.742 80206 chr4 20728910 20728910 G T rs140666081 PACRGL Stop gain E199X 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 11.36 80207 chr4 187525048 187525048 C T rs112325579 FAT1 Synonymous SNV A3544A 0.003 0.005 0.014 1 3 2 0.003 4 0 0 0 0 Benign 14.36 80208 chr19 5699205 5699205 G A rs61738271 LONP1 Synonymous SNV A310A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.93 80209 chr4 188924050 188924050 G A rs148426653 ZFP42 Nonsynonymous SNV G30D 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 0.001 80210 chr15 80472561 80472561 C T rs1801374 FAH Synonymous SNV S352S 0.04 0.073 0.044 23 47 28 0.059 13 2 1 0 0 Benign 10.3 80211 chr3 125843250 125843250 C T rs763536298 ALDH1L1 Synonymous SNV K514K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.81 80212 chr3 125877314 125877314 C T rs139977408 ALDH1L1 Nonsynonymous SNV R109Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.98 80213 chr3 108072425 108072425 C T rs2124741 HHLA2 Synonymous SNV H72H 0.022 0.023 0.02 4 26 9 0.01 6 0 0 0 0 11.44 80214 chr3 108072524 108072524 G A rs2124740 HHLA2 Synonymous SNV S105S 0.022 0.023 0.02 4 26 9 0.01 6 0 0 0 0 6.242 80215 chr19 5789498 5789498 C A rs34998818 DUS3L Nonsynonymous SNV R207L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 80216 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 80217 chr3 51812651 51812651 G A rs182246002 IQCF6 Synonymous SNV I104I 0.016 0.013 0.003 8 19 5 0.021 1 1 0 0 0 11.42 80218 chr3 160142807 160142807 - GT rs765128491 SMC4 Frameshift insertion R827Vfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 80219 chr3 51969461 51969461 C G RRP9 Nonsynonymous SNV D290H 0.009 0.01 0 7 11 4 0.018 0 1 0 0 0 26.9 80220 chr3 128664664 128664664 T C rs62265309 KIAA1257 Nonsynonymous SNV E212G 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 23.8 80221 chr4 2940941 2940941 C T rs377548723 NOP14 Synonymous SNV R816R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 10.94 80222 chr19 58596338 58596338 C T rs150846522 ZSCAN18 Nonsynonymous SNV G280D 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.212 80223 chr4 3076604 3076615 CAGCAGCAGCAG - rs778928198 HTT Q35_Q38del 0.024 0.034 0 7 28 13 0.018 0 3 1 0 0 80224 chr4 3076610 3076615 CAGCAG - HTT Q37_Q38del 0.009 0.01 0 4 11 4 0.01 0 0 0 0 0 80225 chr15 41062943 41062943 C T rs761562699 C15orf62 Nonsynonymous SNV R84C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 80226 chr3 167344663 167344663 C T rs79283975 WDR49 Nonsynonymous SNV V195I 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 17.04 80227 chr19 58850343 58850343 G A rs753526170 ZSCAN22 Nonsynonymous SNV G376E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 80228 chr4 3502057 3502057 C T rs143778632 DOK7 Synonymous SNV P396P 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 12.62 80229 chr19 5925721 5925721 C T rs115320782 RANBP3 Nonsynonymous SNV D208N 0.009 0.013 0.01 8 11 5 0.021 3 0 0 0 0 11.41 80230 chr19 6040147 6040147 C T rs35078478 RFX2 Synonymous SNV S122S 0.002 0 0.01 0 2 0 0 3 0 0 0 0 16.37 80231 chr3 170110128 170110128 G A rs371390770 SKIL Nonsynonymous SNV A614T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 29.5 80232 chr15 86124461 86124461 C T rs116622424 AKAP13 Synonymous SNV S1054S 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 12.66 80233 chr3 52836751 52836751 G A rs199774480 ITIH3 Synonymous SNV R546R 0.009 0.008 0 7 11 3 0.018 0 1 0 0 0 8.03 80234 chr15 41853507 41853507 - GCCTGAAGTCAGTGGAGCGCTCTGACGCCGGCCGGTACT rs770303024 TYRO3 Y70_W71insCLKSVERSDAGRY 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 80235 chr3 112969767 112969767 T C rs115866915 BOC Nonsynonymous SNV C155R 0.012 0.005 0.003 2 14 2 0.005 1 0 0 0 0 2.293 80236 chr19 6411855 6411855 C T rs116736935 LOC390877 Nonsynonymous SNV R98C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.579 80237 chr3 113010477 113010477 C T rs762790255 CFAP44 Nonsynonymous SNV R1831H 0.003 0 0 0 4 0 0 0 0 0 0 0 32 80238 chr19 6480013 6480013 C T rs10416003 DENND1C Nonsynonymous SNV A23T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.01 80239 chr15 87099508 87099508 G A rs73459659 AGBL1 Nonsynonymous SNV G1017S 0.011 0.008 0.007 4 13 3 0.01 2 0 0 0 0 0.013 80240 chr3 113119409 113119409 G A rs75322072 CFAP44 Nonsynonymous SNV A486V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.3 80241 chr3 132209866 132209866 T C rs61757222 DNAJC13 Synonymous SNV T1198T 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 Benign 3.824 80242 chr19 685761 685761 G A rs146346253 PRSS57 Synonymous SNV P268P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.618 80243 chr4 42003677 42003677 C T rs149368642 SLC30A9 Nonsynonymous SNV P52S 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 0.82 80244 chr4 4322732 4322732 G A rs62289494 ZBTB49 Nonsynonymous SNV G663R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.11 80245 chr3 118931401 118931401 C A rs150344141 B4GALT4 Nonsynonymous SNV A344S 0.008 0.003 0 0 9 1 0 0 0 0 0 0 20.8 80246 chr3 13546146 13546146 A G rs200025556 HDAC11 Nonsynonymous SNV N257S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.54 80247 chr4 436209 436209 C T rs372385747 ZNF721 Nonsynonymous SNV A683T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.593 80248 chr3 62317005 62317005 A G rs35261777 C3orf14 Nonsynonymous SNV I61M 0.027 0.034 0.02 9 32 13 0.023 6 1 1 1 0 12.66 80249 chr3 194379781 194379781 G A rs370971373 LSG1 Nonsynonymous SNV R222W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 80250 chr19 7673148 7673148 A C CAMSAP3 Nonsynonymous SNV E253A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 80251 chr3 136699394 136699394 G A rs138979139 IL20RB Nonsynonymous SNV A59T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.63 80252 chr3 120315238 120315238 T G NDUFB4 Nonsynonymous SNV L11R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 80253 chr3 121207488 121207488 - A rs755281591 POLQ Frameshift insertion L1430Ffs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 80254 chr15 90768901 90768901 G A SEMA4B Synonymous SNV L372L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.134 80255 chr3 121209234 121209234 C T POLQ Synonymous SNV E848E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 80256 chr4 47645184 47645184 T A rs144722161 CORIN Nonsynonymous SNV S579C 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 Likely benign 23.9 80257 chr3 121342051 121342051 G C rs184673980 FBXO40 Nonsynonymous SNV S592T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 80258 chr3 121350988 121350993 AGCCAC - rs112494135 HCLS1 V390_A391del 0.001 0 0 0 1 0 0 0 0 0 0 0 80259 chr3 140409863 140409863 T C rs142517110 TRIM42 Synonymous SNV Y638Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.115 80260 chr4 48553541 48553541 T A rs190941081 FRYL Nonsynonymous SNV N1497I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 9.931 80261 chr3 14176729 14176729 C T rs143958148 TMEM43 Synonymous SNV H259H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 15.25 80262 chr3 186793486 186793486 G A rs147859392 ST6GAL1 Synonymous SNV L372L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.5 80263 chr3 14220023 14220023 G C rs1870134 XPC Nonsynonymous SNV L16V 0.002 0 0.01 1 2 0 0.003 3 1 0 0 0 Benign 0.002 80264 chr4 5633553 5633553 A G rs761646676 EVC2 Synonymous SNV A479A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.327 80265 chr4 57219614 57219614 G A rs772149335 AASDH Nonsynonymous SNV P26L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 80266 chr4 57325626 57325626 C T rs372555470 PAICS Synonymous SNV S400S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.99 80267 chr15 51692419 51692419 C T rs151045681 GLDN Nonsynonymous SNV T159I 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 25.6 80268 chr4 57797350 57797350 C G rs61748756 REST Nonsynonymous SNV P776A 0.02 0.029 0 4 23 11 0.01 0 0 0 0 0 0.013 80269 chr3 27758920 27758920 T C rs763652726 EOMES Nonsynonymous SNV T587A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.184 80270 chr3 29781262 29781262 A G rs774341068 RBMS3 Nonsynonymous SNV M150V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 80271 chr15 55681623 55681623 C T DNAAF4-CCPG1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.95 80272 chr3 31789442 31789442 C T rs141263490 OSBPL10 Synonymous SNV V236V 0.018 0.005 0.01 1 21 2 0.003 3 0 0 0 0 13.47 80273 chr3 150883636 150883636 T G rs750101653 MED12L Nonsynonymous SNV V454G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 80274 chr15 101775491 101775491 C T rs145031427 CHSY1 Synonymous SNV T204T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 14.47 80275 chr15 99192756 99192764 TTTTTTTTT - IRAIN 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 80276 chr16 420009 420009 G A rs768270657 MRPL28 Synonymous SNV Y70Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.231 80277 chr3 194365360 194365360 C T rs148242479 LSG1 Nonsynonymous SNV G580D 0.019 0.031 0.02 11 22 12 0.028 6 1 0 0 0 6.318 80278 chr3 195022872 195022872 C T ACAP2 Nonsynonymous SNV G383E 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22.8 80279 chr3 126261065 126261065 C T CHST13 Nonsynonymous SNV R224C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 80280 chr4 68784800 68784800 T C rs147032305 TMPRSS11A Synonymous SNV R281R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 80281 chr4 667129 667131 CTG - ATP5ME Q51del 0.008 0.01 0 0 9 4 0 0 0 0 0 0 80282 chr3 195487798 195487798 C T rs55873586 MUC4 Synonymous SNV T648T 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 12.7 80283 chr3 195490414 195490414 T G rs142108900 MUC4 Nonsynonymous SNV N428H 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 21.1 80284 chr3 154010409 154010409 T C rs760620287 DHX36 Nonsynonymous SNV N568S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 80285 chr19 9056677 9056677 C G MUC16 Nonsynonymous SNV E10257Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.719 80286 chr3 154018916 154018916 C T DHX36 Synonymous SNV R406R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.92 80287 chr15 59063780 59063780 C T MINDY2 Synonymous SNV S62S 0.01 0.005 0 1 12 2 0.003 0 2 0 0 0 13.18 80288 chr3 195515726 195515726 G C rs55697302 MUC4 Nonsynonymous SNV Q909E 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 0.026 80289 chr3 38348770 38348770 C T rs148705199 SLC22A14 Nonsynonymous SNV T181M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.37 80290 chr4 70513192 70513192 A C rs141770164 UGT2A1 Synonymous SNV G57G 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.001 80291 chr3 195518170 195518170 G A rs149353533 MUC4 Nonsynonymous SNV T94M 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 0.817 80292 chr3 195595513 195595513 C T rs149663605 TNK2 Synonymous SNV L569L 0.016 0.018 0.031 11 19 7 0.028 9 0 0 1 0 9.153 80293 chr3 38671840 38671840 G A rs45533640 SCN5A Synonymous SNV H118H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign/Likely benign 11.27 80294 chr15 63966841 63966841 T C rs201523092 HERC1 Nonsynonymous SNV M2516V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 19.61 80295 chr4 108866627 108866627 A G rs148983337 CYP2U1 Nonsynonymous SNV N331S 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 80296 chr4 71347050 71347050 G A rs144679944 MUC7 Nonsynonymous SNV A197T 0.01 0.003 0.017 7 12 1 0.018 5 0 0 0 0 0.002 80297 chr16 1268542 1268542 G A rs60526088 CACNA1H Synonymous SNV S1920S 0.01 0.016 0.003 4 12 6 0.01 1 0 0 0 1 Benign 4.145 80298 chr3 39159581 39159581 C T TTC21A Synonymous SNV S205S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 80299 chr16 1269003 1269003 A G rs3751886 CACNA1H Nonsynonymous SNV E1968G 0.011 0.016 0.007 4 13 6 0.01 2 0 0 0 1 Benign 15.45 80300 chr3 197403779 197403779 C T rs183738683 RUBCN Nonsynonymous SNV A875T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.42 80301 chr16 1270055 1270055 T C rs3751889 CACNA1H Synonymous SNV G2035G 0.011 0.016 0.007 4 13 6 0.01 2 0 0 0 1 Benign 0.026 80302 chr4 71659570 71659570 G A RUFY3 Nonsynonymous SNV G469E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.5 80303 chr16 1272722 1272722 C T rs2294608 TPSG1 Synonymous SNV P147P 0.008 0.016 0.003 3 9 6 0.008 1 0 0 0 0 9.98 80304 chr16 1273444 1273444 G T rs61587627 TPSG1 Nonsynonymous SNV T75K 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 26.9 80305 chr4 73930519 73930519 G A rs61741433 COX18 Synonymous SNV G235G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.92 80306 chr3 40433650 40433650 G T ENTPD3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.585 80307 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAA 0.049 0.049 0.01 19 57 19 0.049 3 1 1 1 0 80308 chr3 28533658 28533658 G A rs13100556 ZCWPW2 Nonsynonymous SNV R178K 0.037 0.023 0.133 19 43 9 0.049 39 6 3 3 5 9.637 80309 chr3 31705624 31705624 G A rs755476445 OSBPL10 Nonsynonymous SNV R669W 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 34 80310 chr4 76877285 76877285 C G rs140718662 SDAD1 Nonsynonymous SNV G583A 0.019 0.01 0.02 11 22 4 0.028 6 0 0 0 0 28.1 80311 chr4 77662800 77662800 C G rs142653019 SHROOM3 Synonymous SNV A1158A 0.01 0.005 0.017 0 12 2 0 5 0 0 0 0 2.052 80312 chr4 7770613 7770613 C T rs62636596 AFAP1 Synonymous SNV P708P 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 13.01 80313 chr4 7774769 7774769 G A AFAP1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.69 80314 chr3 133467337 133467337 G A rs41298293 TF Nonsynonymous SNV R42H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.12 80315 chr4 7770660 7770660 C T rs145262268 AFAP1 Nonsynonymous SNV V693M 0.007 0.003 0 7 8 1 0.018 0 0 0 0 0 22.2 80316 chr3 33557594 33557594 T C rs746905410 CLASP2 Nonsynonymous SNV H1132R 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 16.9 80317 chr16 2221350 2221350 C T rs768242605 TRAF7 Nonsynonymous SNV T145M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 80318 chr1 10699144 10699155 TCGTCGTCGTCC - rs770782033 CASZ1 E1708_D1711del 0 0 0.003 0 0 0 0 1 0 0 0 0 80319 chr16 2510928 2510928 C T rs376053639 TEDC2 Nonsynonymous SNV A103V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 80320 chr3 184039828 184039828 C T rs112545306 EIF4G1 Nonsynonymous SNV P290S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.001 80321 chr4 128819618 128819618 A G rs41278099 PLK4 Synonymous SNV P913P 0.024 0.018 0.01 8 28 7 0.021 3 0 0 0 0 7.969 80322 chr3 38766760 38766760 G T rs73062575 SCN10A Nonsynonymous SNV P947T 0.017 0.026 0.003 9 20 10 0.023 1 0 0 0 0 Benign 6.35 80323 chr3 14200206 14200206 G A rs121965090 XPC Nonsynonymous SNV R200W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 16.46 80324 chr1 109837853 109837853 G A rs72703216 MYBPHL Nonsynonymous SNV H312Y 0.012 0.003 0.017 4 14 1 0.01 5 0 0 0 0 12.61 80325 chr3 38991598 38991598 G T rs78812474 SCN11A Synonymous SNV R86R 0.062 0.063 0.065 16 73 24 0.041 19 1 0 0 1 12.56 80326 chr16 3406838 3406838 G A rs62000975 OR2C1 Nonsynonymous SNV A300T 0.01 0.013 0.007 12 12 5 0.031 2 0 0 0 0 23.5 80327 chr1 109878893 109878893 T C rs144141753 SORT1 Nonsynonymous SNV E310G 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 16.69 80328 chr1 110033652 110033652 C A rs139880868 ATXN7L2 Synonymous SNV T521T 0 0.008 0.01 3 0 3 0.008 3 0 0 0 0 9.503 80329 chr4 139162969 139162969 C T rs141635291 SLC7A11 Synonymous SNV V85V 0.022 0.018 0.003 6 26 7 0.015 1 1 0 0 0 9.024 80330 chr15 75968921 75968921 C T rs117177957 CSPG4 Nonsynonymous SNV R1980H 0.011 0.01 0.007 3 13 4 0.008 2 0 0 0 0 15.07 80331 chr4 141310443 141310443 C T CLGN Nonsynonymous SNV E590K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 30 80332 chr3 46783919 46783919 T C rs201730160 PRSS45P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.001 80333 chr4 88236701 88236701 G A rs138932958 HSD17B13 Synonymous SNV I131I 0.013 0.023 0.017 4 15 9 0.01 5 0 0 1 0 9.992 80334 chr3 47037253 47037253 G A rs201373710 NBEAL2 Nonsynonymous SNV G616R 0.009 0.008 0.01 0 11 3 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 32 80335 chr4 148944496 148944496 C T rs139150580 ARHGAP10 Nonsynonymous SNV S600L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 27.9 80336 chr3 47040323 47040323 C T rs202071400 NBEAL2 Nonsynonymous SNV T1079M 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 Likely benign 1.155 80337 chr3 149048166 149048166 T C rs75979800 TM4SF18 Nonsynonymous SNV N73S 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 0.031 80338 chr3 190030818 190030818 C T rs200229485 CLDN1 Synonymous SNV L77L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.65 80339 chr3 149205419 149205419 C T rs765036897 TM4SF4 Nonsynonymous SNV T93M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.7 80340 chr4 88732874 88732874 A G rs17013182 IBSP Nonsynonymous SNV T256A 0.014 0.029 0.014 7 17 11 0.018 4 2 0 0 0 10.63 80341 chr3 47049133 47049133 C T rs748364740 NBEAL2 Nonsynonymous SNV R2451W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 80342 chr4 88986637 88986637 G C PKD2 Nonsynonymous SNV D744H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 80343 chr4 153864526 153864526 C A rs753783811 FHDC1 Nonsynonymous SNV P106Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 32 80344 chr15 80189277 80189277 C T rs375170671 MTHFS Synonymous SNV K18K 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 11.46 80345 chr15 80191211 80191211 T C rs145958108 ST20 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 1.408 80346 chr16 5077352 5077352 G C rs146958181 NAGPA Synonymous SNV G401G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 10.4 80347 chr1 112020307 112020307 A G rs752018349 C1orf162 Synonymous SNV P50P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.324 80348 chr16 8988692 8988692 C T USP7 Synonymous SNV V1004V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.53 80349 chr1 114442873 114442873 G A rs143286419 AP4B1 Nonsynonymous SNV T88I 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Likely benign 14.81 80350 chr3 48694471 48694471 C T rs145229058 CELSR3 Synonymous SNV Q1353Q 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 13.79 80351 chr1 114444444 114444444 T G rs34751342 AP4B1 Synonymous SNV S134S 0.029 0.013 0.041 8 34 5 0.021 12 1 0 0 0 Benign 7.351 80352 chr3 49050825 49050825 C T rs576036071 WDR6 Nonsynonymous SNV R594C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 80353 chr1 115321895 115321895 A T SIKE1 Synonymous SNV I96I 0 0 0.007 0 0 0 0 2 0 0 0 0 2.546 80354 chr5 101593787 101593787 A G SLCO4C1 Nonsynonymous SNV L378S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 80355 chr3 49698821 49698821 T C BSN Synonymous SNV S3181S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.059 80356 chr3 195605449 195605449 G A rs55842111 TNK2 Synonymous SNV I367I 0.012 0.016 0.014 4 14 6 0.01 4 0 0 0 0 Likely benign 13.33 80357 chr3 49755481 49755481 G A rs140027250 AMIGO3 Nonsynonymous SNV A473V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.82 80358 chr5 102891773 102891773 G A rs144015299 NUDT12 Nonsynonymous SNV L257F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 80359 chr4 99997920 99997920 C A rs1050636 ADH5 Nonsynonymous SNV D167Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 34 80360 chr4 156838568 156838568 G A rs144382797 TDO2 Synonymous SNV V306V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 8.966 80361 chr16 15692836 15692836 G A rs142983571 MARF1 Nonsynonymous SNV S1620F 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 32 80362 chr3 196388416 196388416 C G rs62636584 NRROS Synonymous SNV P634P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.071 80363 chr3 50334481 50334481 C T rs34484133 NAA80 Synonymous SNV V138V 0.004 0.005 0.014 9 5 2 0.023 4 0 0 0 0 11.46 80364 chr5 109183487 109183487 A C MAN2A1 Nonsynonymous SNV N991T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 80365 chr4 159750278 159750278 - AGCAGCAGTGTC rs748009456 FNIP2 S124_S125insVSSS 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 80366 chr3 169496828 169496828 A G rs35294030 MYNN Nonsynonymous SNV K180R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.76 80367 chr16 19126044 19126046 CTC - rs534424977 ITPRIPL2 S89del 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 80368 chr15 87217553 87217553 G C rs181958589 AGBL1 Nonsynonymous SNV C1036S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Pathogenic 27.6 80369 chr3 17053261 17053261 C G PLCL2 Nonsynonymous SNV A682G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.44 80370 chr16 19726124 19726124 G A rs58543897 KNOP1 Synonymous SNV C78C 0.008 0 0.014 2 9 0 0.005 4 0 0 0 0 3.474 80371 chr4 169206576 169206576 T C rs140772744 DDX60 Synonymous SNV G471G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.655 80372 chr1 11900437 11900437 T C rs198412 NPPA-AS1 0 0 0.037 0 0 0 0 11 0 0 0 0 11.08 80373 chr3 30898568 30898568 G A rs200877024 GADL1 Synonymous SNV G92G 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 14.51 80374 chr3 179336278 179336278 C T rs772265410 NDUFB5 Nonsynonymous SNV L88F 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 28.6 80375 chr5 115320370 115320370 C T rs17482536 LVRN Synonymous SNV D314D 0.023 0.018 0.02 8 27 7 0.021 6 0 0 0 0 5.966 80376 chr3 183778092 183778092 C T rs763176551 HTR3C Synonymous SNV L432L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.55 80377 chr3 36875292 36875292 T C rs202062734 TRANK1 Nonsynonymous SNV M1884V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.1 80378 chr3 47618825 47618825 A C rs61732079 CSPG5 Nonsynonymous SNV S93A 0.011 0.018 0.003 4 13 7 0.01 1 0 0 0 0 18.05 80379 chr3 38050627 38050627 G A rs146435554 PLCD1 Synonymous SNV N564N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 10.19 80380 chr3 47958558 47958558 A C rs749068805 MAP4 Synonymous SNV S253S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 2.487 80381 chr1 145477257 145477257 T C rs2282013 LIX1L Synonymous SNV A33A 0.016 0.018 0.027 2 19 7 0.005 8 5 1 3 0 5.942 80382 chr16 27231775 27231775 A G KDM8 Nonsynonymous SNV H390R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.5 80383 chr1 145561980 145561980 G A rs138937699 ANKRD35 Synonymous SNV Q466Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.013 80384 chr16 27373612 27373612 T C rs2234897 IL4R Synonymous SNV F313F 0.015 0.013 0.031 5 18 5 0.013 9 0 0 0 0 0.628 80385 chr4 183601819 183601819 G C rs147269509 TENM3 Nonsynonymous SNV G588A 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Benign 23.6 80386 chr1 146696569 146696569 G A rs373414071 FMO5 Nonsynonymous SNV S18F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 80387 chr5 125820187 125820187 A C rs377088451 GRAMD2B Nonsynonymous SNV E210A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 80388 chr5 127089988 127089988 C T rs76969222 CCDC192 Nonsynonymous SNV A67V 0.007 0.016 0 2 8 6 0.005 0 0 0 0 0 6.759 80389 chr3 48802465 48802465 T C rs2230509 PRKAR2A Nonsynonymous SNV Y254C 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 26.4 80390 chr4 184931826 184931826 C T rs748144125 STOX2 Nonsynonymous SNV T612M 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 28.1 80391 chr16 28962429 28962429 C T rs7201257 NFATC2IP Nonsynonymous SNV R33W 0.017 0.021 0.007 4 20 8 0.01 2 0 0 0 0 23.5 80392 chr3 186461524 186461524 C T rs76438938 KNG1 Stop gain R376X 0.02 0.008 0.031 6 24 3 0.015 9 0 0 0 0 Benign 18.83 80393 chr1 150549849 150549849 G A rs148874038 MCL1 Synonymous SNV A269A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 80394 chr3 58303399 58303399 G C rs538545058 HTD2 Nonsynonymous SNV C20S 0.007 0.008 0 7 8 3 0.018 0 0 0 0 0 7.872 80395 chr16 30518143 30518143 C T rs143575422 ITGAL Nonsynonymous SNV P741L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.477 80396 chr1 151783805 151783805 G C rs113195254 RORC Nonsynonymous SNV A443G 0.003 0.003 0.003 6 4 1 0.015 1 0 0 0 0 Benign 21.6 80397 chr15 93527619 93527619 C T rs150268140 CHD2 Synonymous SNV D1042D 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign/Likely benign 14.4 80398 chr3 51456173 51456173 T C DCAF1 Nonsynonymous SNV N997D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 21.7 80399 chr3 64507913 64507913 T C rs61754854 ADAMTS9 Synonymous SNV K1886K 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 Benign 4.422 80400 chr1 152006237 152006237 C T rs201176217 S100A11 Nonsynonymous SNV E15K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 80401 chr1 152060564 152060564 G C rs142056537 TCHHL1 Nonsynonymous SNV A19G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 26.9 80402 chr3 40192568 40192568 T C MYRIP Nonsynonymous SNV F121S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.9 80403 chr16 30997778 30997778 C T rs117645456 HSD3B7 Synonymous SNV T119T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.34 80404 chr3 40557547 40557547 C T rs148212912 ZNF620 Synonymous SNV T40T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.303 80405 chr3 52014486 52014486 G A rs79186892 ABHD14A Nonsynonymous SNV D159N 0.017 0.018 0.003 4 20 7 0.01 1 0 1 0 0 15.04 80406 chr3 52130705 52130705 G A rs775753197 POC1A Synonymous SNV P297P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.129 80407 chr3 193336676 193336676 C T rs34307082 OPA1 Nonsynonymous SNV A156V 0.011 0.018 0 6 13 7 0.015 0 0 1 0 0 Benign 22.3 80408 chr16 31095558 31095558 C T rs56909237 PRSS53 Synonymous SNV P508P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 15.89 80409 chr3 193364872 193364872 A C rs78767626 OPA1 Synonymous SNV A500A 0.009 0.018 0 6 11 7 0.015 0 0 1 0 0 Benign 2.082 80410 chr16 31102589 31102589 G A rs7200749 VKORC1 Nonsynonymous SNV P83L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 11.89 80411 chr16 31146747 31146747 G A rs532468966 PRSS8 Nonsynonymous SNV R25W 0.002 0 0 0 2 0 0 0 0 0 0 0 15.97 80412 chr16 31193983 31193983 A G rs140883211 FUS Nonsynonymous SNV N63S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.369 80413 chr3 52469628 52469628 C T rs61729091 SEMA3G Synonymous SNV E780E 0.044 0.07 0.027 14 52 27 0.036 8 3 1 0 0 12.94 80414 chr3 52476246 52476246 G A rs34900551 SEMA3G Synonymous SNV A138A 0.042 0.052 0.02 10 49 20 0.026 6 3 1 0 0 10.4 80415 chr16 31226444 31226444 C T rs200603153 TRIM72 Nonsynonymous SNV L129F 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 80416 chr5 136448242 136448242 T C SPOCK1 Nonsynonymous SNV K119R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 80417 chr16 31391120 31391120 T C rs2230427 ITGAX Nonsynonymous SNV F971L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 17.44 80418 chr1 153113118 153113118 C T rs574504379 SPRR2C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.442 80419 chr16 31470809 31470809 G A rs368633181 ARMC5 Synonymous SNV A20A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.91 80420 chr16 31470926 31470926 G T rs201624683 ARMC5 Synonymous SNV L27L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.04 80421 chr16 31473280 31473280 G A rs201474630 ARMC5 Synonymous SNV Q171Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.562 80422 chr16 31501532 31501532 G T rs149525864 SLC5A2 Nonsynonymous SNV E591D 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Uncertain significance 3.389 80423 chr1 153933205 153933205 A G SLC39A1 Nonsynonymous SNV I115T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 80424 chr16 48120697 48120697 A G rs16945786 ABCC12 Synonymous SNV D1223D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.077 80425 chr5 13737496 13737496 A G rs766646786 DNAH5 Nonsynonymous SNV S3774P 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Uncertain significance 26 80426 chr1 15439227 15439227 C A rs12046842 TMEM51-AS1 0 0 0.289 0 0 0 0 85 0 0 34 0 4.417 80427 chr1 15439233 15439233 - C rs150305993 TMEM51-AS1 0 0 0.034 0 0 0 0 10 0 0 1 0 80428 chr16 48138272 48138272 T A rs8057474 ABCC12 Nonsynonymous SNV K894M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 21.3 80429 chr1 154456772 154456772 G T rs61812630 SHE Synonymous SNV T447T 0 0 0.014 3 0 0 0.008 4 0 0 0 0 11.59 80430 chr4 22439915 22439915 G A rs147843055 ADGRA3 Nonsynonymous SNV P350L 0.008 0.01 0.007 0 9 4 0 2 0 0 0 0 Likely benign 23.1 80431 chr5 137517321 137517321 G T rs745984116 KIF20A Synonymous SNV V93V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.217 80432 chr3 97614917 97614917 G C CRYBG3 Synonymous SNV R2563R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 80433 chr16 48395527 48395527 G A rs35374298 SIAH1 Synonymous SNV G302G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 2.931 80434 chr3 44541093 44541093 G A rs142286179 ZNF852 Synonymous SNV F392F 0.006 0.003 0.01 4 7 1 0.01 3 0 0 0 0 6.29 80435 chr3 44635894 44635894 G A rs201807839 ZNF660 Nonsynonymous SNV R70Q 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 29.6 80436 chr3 44685457 44685457 A G rs61747170 ZNF197, ZNF660-ZNF197 Synonymous SNV L732L 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 0.097 80437 chr5 138738337 138738337 C T rs192704505 SPATA24 Nonsynonymous SNV A55T 0.02 0.029 0.01 10 23 11 0.026 3 0 0 0 0 23.6 80438 chr3 54156797 54156797 T C CACNA2D3 Synonymous SNV A19A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.22 80439 chr3 195516730 195516730 G A rs74547899 MUC4 Nonsynonymous SNV T574I 0.025 0.036 0.017 11 29 14 0.028 5 0 1 0 1 0.582 80440 chr5 138654689 138654689 A G rs774463869 MATR3 Synonymous SNV R179R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 8.029 80441 chr3 195517414 195517414 G A rs201530979 MUC4 Nonsynonymous SNV P346L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.561 80442 chr3 9793590 9793590 T G rs761983422 OGG1 Nonsynonymous SNV D174E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.11 80443 chr3 98001858 98001858 A G rs138288586 OR5H2 Nonsynonymous SNV T43A 0.018 0.023 0.044 10 21 9 0.026 13 0 0 0 1 20.4 80444 chr3 196381434 196381434 C T rs61738471 NRROS Synonymous SNV L8L 0.012 0.018 0.01 2 14 7 0.005 3 0 0 0 0 15.22 80445 chr4 2749525 2749525 C T rs138986059 TNIP2 Nonsynonymous SNV V35I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.62 80446 chr4 2831774 2831774 G A rs201966956 SH3BP2 Nonsynonymous SNV V381M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 80447 chr3 197409392 197409392 T A rs201343662 RUBCN Nonsynonymous SNV E692V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 34 80448 chr3 9971760 9971760 G T rs754805598 IL17RC Nonsynonymous SNV G370V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.59 80449 chr5 140168291 140168291 T C rs34042554 PCDHA1 Nonsynonymous SNV W806R 0.011 0.016 0.003 1 13 6 0.003 1 0 0 0 0 8.763 80450 chr3 63981799 63981799 G A rs199676165 ATXN7 Synonymous SNV A622A 0.006 0.013 0 0 7 5 0 0 0 0 0 0 7.424 80451 chr16 57600604 57600604 C G rs143632938 ADGRG5 Nonsynonymous SNV P214A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.401 80452 chr5 140480658 140480658 T C rs111229803 PCDHB3 Nonsynonymous SNV I142T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 80453 chr5 140201919 140201919 G A rs61730632 PCDHA5 Nonsynonymous SNV E187K 0.011 0.016 0.003 1 13 6 0.003 1 0 0 0 0 0.306 80454 chr16 57953043 57953043 C T rs183443649 CNGB1 Stop gain W633X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 80455 chr3 4774816 4774816 C T rs61757111 ITPR1 Synonymous SNV N1692N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.71 80456 chr4 101386657 101386657 G A rs114761326 EMCN Nonsynonymous SNV S100F 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 10.76 80457 chr5 140255119 140255119 T G rs114654172 PCDHA12 Nonsynonymous SNV L21R 0.011 0.013 0.003 1 13 5 0.003 1 0 0 0 0 20.5 80458 chr3 48501929 48501929 C T rs34508594 ATRIP Synonymous SNV V399V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 9.231 80459 chr3 48613128 48613128 G A rs141290741 COL7A1 Synonymous SNV F1970F 0.013 0.021 0.01 7 15 8 0.018 3 0 0 0 0 Benign/Likely benign 12.36 80460 chr3 48681102 48681102 C T rs778736769 CELSR3 Nonsynonymous SNV R2725H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 80461 chr16 66511560 66511560 C T rs142343073 BEAN1 Synonymous SNV D20D 0.01 0.01 0.027 0 12 4 0 8 0 0 0 0 11.75 80462 chr5 140731769 140731769 C G rs147767080 PCDHGB1 Nonsynonymous SNV P648A 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 24.9 80463 chr3 36915732 36915732 C T rs750691634 TRANK1 Synonymous SNV L277L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.19 80464 chr5 145197548 145197548 T G rs770673925 PRELID2 Nonsynonymous SNV M93L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 80465 chr3 49846857 49846860 TGTT - rs767644153 UBA7 K709Sfs*45 0.006 0.01 0.003 6 7 4 0.015 1 0 0 0 0 80466 chr1 158450658 158450658 C T rs765078324 OR10R2 Synonymous SNV L331L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.471 80467 chr16 67235960 67235960 C T rs375192823 ELMO3 Synonymous SNV N377N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.744 80468 chr3 38163867 38163867 C T rs190570989 DLEC1 Nonsynonymous SNV P1703L 0.005 0.008 0.01 0 6 3 0 3 0 0 0 0 13.08 80469 chr3 50225255 50225255 G A rs141689328 SEMA3F Nonsynonymous SNV V590I 0.009 0.013 0.003 5 10 5 0.013 1 0 0 0 0 13.85 80470 chr16 67688696 67688696 C A CARMIL2 Synonymous SNV R1200R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 80471 chr16 67699054 67699054 G A rs79837695 ENKD1 Nonsynonymous SNV H100Y 0.01 0.016 0.003 0 12 6 0 1 0 0 0 0 10.42 80472 chr3 38597180 38597180 G A rs45548237 SCN5A Synonymous SNV S1485S 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.471 80473 chr16 68331198 68331198 C T rs140230123 SLC7A6 Synonymous SNV A505A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.14 80474 chr4 114279628 114279628 T C rs36210417 ANK2 Nonsynonymous SNV I3285T 0.046 0.023 0.02 13 54 9 0.033 6 3 0 0 0 Benign/Likely benign 25 80475 chr1 158736201 158736201 G A rs7521578 OR6N1 Nonsynonymous SNV T91I 0.008 0 0.003 0 9 0 0 1 0 0 0 0 18 80476 chr5 141993631 141993631 C T rs17223632 FGF1 Nonsynonymous SNV G21E 0.007 0.008 0.014 2 8 3 0.005 4 0 0 0 0 Benign 11.75 80477 chr3 38798282 38798282 C A rs760504745 SCN10A Nonsynonymous SNV L391F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 80478 chr16 70501322 70501322 C T FCSK Nonsynonymous SNV P177L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 80479 chr5 145718765 145718765 C T rs28994879 POU4F3 Synonymous SNV A30A 0.043 0.047 0.034 13 50 18 0.033 10 2 0 0 0 Benign/Likely benign 22.7 80480 chr5 145838710 145838710 A G TCERG1 Synonymous SNV Q234Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.173 80481 chr4 40818179 40818179 T C rs112788816 APBB2 Nonsynonymous SNV N188S 0.005 0.01 0.01 5 6 4 0.013 3 0 0 0 0 9.261 80482 chr4 120981323 120981323 T C rs61752608 MAD2L1 Nonsynonymous SNV I190V 0.008 0.005 0 0 9 2 0 0 0 0 0 0 Benign 10.99 80483 chr4 41016189 41016189 C T rs192964270 APBB2 Synonymous SNV S82S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.65 80484 chr16 71482355 71482355 T A ZNF23 Nonsynonymous SNV I467L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 80485 chr5 150027798 150027798 C A rs746212122 SYNPO Synonymous SNV P231P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.205 80486 chr5 150028408 150028408 T A rs201230432 SYNPO Nonsynonymous SNV S191T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.16 80487 chr16 2369821 2369821 G T rs139695699 ABCA3 Nonsynonymous SNV L212M 0.009 0.005 0 0 11 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 80488 chr3 40503523 40503523 - CTGCTGCTG RPL14 A159_K160insAAA 0.001 0.005 0 0 1 2 0 0 0 0 0 0 80489 chr16 72822564 72822575 TGCTGCTGCTGC - rs776124119 ZFHX3 Q2287_Q2290del 0.001 0 0 0 1 0 0 0 0 0 0 0 80490 chr16 3118239 3118239 C T rs141583132 IL32 Nonsynonymous SNV P58L 0.011 0.018 0.007 5 13 7 0.013 2 0 0 0 0 Benign 0.018 80491 chr4 126355435 126355435 G A rs147151922 FAT4 Nonsynonymous SNV V2352I 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 20.5 80492 chr1 161736209 161736209 T C rs35284289 ATF6 Nonsynonymous SNV F20S 0.016 0.008 0.024 2 19 3 0.005 7 0 0 0 0 1.066 80493 chr5 149310665 149310665 C T rs148938083 PDE6A Nonsynonymous SNV A262T 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 Uncertain significance 23.6 80494 chr5 149375721 149375721 C - rs33910807 TIGD6 G64Dfs*7 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 80495 chr1 16260036 16260036 C T SPEN Nonsynonymous SNV P2434L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 80496 chr4 129035733 129035733 C G rs139146175 LARP1B Nonsynonymous SNV P92A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.812 80497 chr16 3613720 3613720 A G rs75531903 NLRC3 Synonymous SNV H406H 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Benign 0.025 80498 chr4 52864052 52864052 T C rs569828058 LRRC66 Nonsynonymous SNV I240V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.004 80499 chr5 150056296 150056296 C T rs57761602 MYOZ3 Synonymous SNV L205L 0.008 0.008 0.02 4 9 3 0.01 6 0 0 0 0 9.188 80500 chr5 150056307 150056307 C A rs7737542 MYOZ3 Nonsynonymous SNV T209N 0.008 0.005 0.017 4 9 2 0.01 5 0 0 0 0 0.103 80501 chr4 53610366 53610366 C T ERVMER34-1 Nonsynonymous SNV G441D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.742 80502 chr16 4431105 4431105 C T rs138294072 VASN Nonsynonymous SNV P76L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 10.87 80503 chr4 54327211 54327211 - A rs397939876 LNX1 0.044 0.052 0.054 19 52 20 0.049 16 1 0 0 0 80504 chr1 165738257 165738257 G A rs193090480 TMCO1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.404 80505 chr5 150566972 150566972 A G rs142006070 CCDC69 Nonsynonymous SNV F123S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.5 80506 chr3 69113235 69113235 G A rs141978953 UBA3 Synonymous SNV N111N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.71 80507 chr4 1397395 1397395 C T NKX1-1 Synonymous SNV G224G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 80508 chr16 4790304 4790304 C T rs17137230 C16orf71 Nonsynonymous SNV P143S 0.007 0.003 0 0 8 1 0 0 0 0 0 0 3.477 80509 chr4 106650643 106650643 C A GSTCD Synonymous SNV V409V 0.005 0 0 0 6 0 0 0 0 0 0 0 13.82 80510 chr1 1684347 1684347 - CCTCCTCCT rs150880809 NADK E413_G414insEEE 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 80511 chr4 108575955 108575955 G A rs35176475 PAPSS1 Nonsynonymous SNV R333C 0.026 0.029 0.02 12 31 11 0.031 6 0 0 0 0 32 80512 chr1 169364337 169364337 T C rs200811493 CCDC181 Nonsynonymous SNV H493R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.538 80513 chr5 156381631 156381631 C T rs61743249 TIMD4 Synonymous SNV K65K 0.032 0.042 0.058 17 37 16 0.044 17 1 0 0 0 7.491 80514 chr16 4802983 4802983 G C rs143969981 ZNF500 Synonymous SNV L279L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.381 80515 chr3 89480437 89480437 G C EPHA3 Nonsynonymous SNV L758F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 80516 chr16 4882169 4882169 C T rs35556015 GLYR1 Synonymous SNV E116E 0.007 0.003 0 0 8 1 0 0 0 0 0 0 13.45 80517 chr4 146038493 146038493 C T rs959349840 ABCE1 Synonymous SNV S283S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.35 80518 chr4 146468002 146468002 G T SMAD1 Nonsynonymous SNV R308L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 80519 chr4 108829734 108829734 C T rs753846430 SGMS2 Synonymous SNV H247H 0.003 0 0 0 3 0 0 0 0 0 0 0 13.32 80520 chr4 151141918 151141918 A C rs148315360 DCLK2 Nonsynonymous SNV I374L 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 8.304 80521 chr1 172558838 172558840 AAG - rs746662495 SUCO E306del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 80522 chr5 159344083 159344083 C T rs2229181 ADRA1B Synonymous SNV L57L 0.025 0.026 0.024 8 29 10 0.021 7 0 0 0 0 7.304 80523 chr16 5061191 5061191 C T rs8055468 SEC14L5 Synonymous SNV D632D 0.007 0.003 0.007 0 8 1 0 2 0 0 1 0 11.65 80524 chr5 159344446 159344446 C T rs3730284 ADRA1B Synonymous SNV I178I 0.025 0.026 0.024 8 29 10 0.021 7 0 0 0 0 12.82 80525 chr3 98491754 98491754 A G rs767288718 ST3GAL6 Nonsynonymous SNV T142A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.418 80526 chr3 98620083 98620083 G C rs190637453 DCBLD2 Nonsynonymous SNV L30V 0.008 0.008 0.02 9 9 3 0.023 6 0 0 0 0 17.66 80527 chr4 154533506 154533506 C G rs36113034 TMEM131L Nonsynonymous SNV S1174C 0.026 0.029 0.014 6 31 11 0.015 4 0 0 0 0 23.8 80528 chr4 62758425 62758425 C T rs141921843 ADGRL3 Nonsynonymous SNV T438I 0.008 0.01 0 5 9 4 0.013 0 0 0 0 0 20.7 80529 chr4 113352745 113352745 G A rs35519493 ALPK1 Nonsynonymous SNV G603D 0.009 0.005 0.007 4 11 2 0.01 2 0 0 0 0 0.213 80530 chr3 99569473 99569473 C T rs371654121 FILIP1L Synonymous SNV E109E 0 0 0 1 0 0 0.003 0 0 0 0 0 12 80531 chr16 84229637 84229637 C T rs149198673 ADAD2 Synonymous SNV T423T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.508 80532 chr1 17588689 17588689 T A rs142129409 PADI3 Nonsynonymous SNV L112H 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 Pathogenic 28.3 80533 chr4 100205887 100205887 G A rs6828526 ADH1A Synonymous SNV Y111Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.121 80534 chr4 115858597 115858597 C T rs56053034 NDST4 Synonymous SNV P428P 0.016 0.003 0.007 6 19 1 0.015 2 2 0 0 0 14.03 80535 chr4 672771 672771 C T rs369788415 MYL5 Stop gain R46X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 36 80536 chr4 100573183 100573183 C G rs17600994 C4orf54 Nonsynonymous SNV E875Q 0.018 0.01 0.014 10 21 4 0.026 4 0 0 0 1 23.9 80537 chr4 15938083 15938083 C T FGFBP1 Nonsynonymous SNV G58D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 80538 chr4 159566240 159566240 A T rs76517567 RXFP1 Nonsynonymous SNV Y384F 0.006 0.021 0.003 1 7 8 0.003 1 0 0 0 0 12.09 80539 chr16 87417262 87417262 G T FBXO31 Nonsynonymous SNV A30E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 80540 chr4 159789264 159789264 C T rs75305192 FNIP2 Synonymous SNV Y138Y 0.003 0.016 0.003 0 3 6 0 1 0 0 0 0 Benign 11.23 80541 chr1 178062930 178062930 - CCG rs762792116 RASAL2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 80542 chr3 49718630 49718630 C T rs761576595 APEH Nonsynonymous SNV R466W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 80543 chr4 70505162 70505162 G A rs28404221 UGT2A1, UGT2A2 Nonsynonymous SNV A66V 0.043 0.039 0.044 20 51 15 0.051 13 2 1 0 0 13.3 80544 chr5 168093670 168093670 A C rs146090354 SLIT3 Nonsynonymous SNV V1461G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26 80545 chr4 16077349 16077349 T C rs201701647 PROM1 Nonsynonymous SNV I61V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 80546 chr16 87723869 87723869 G A rs201193066 JPH3 Nonsynonymous SNV A635T 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 1.474 80547 chr4 104060947 104060947 C G rs148969710 CENPE Nonsynonymous SNV R2068T 0.005 0.003 0.007 5 6 1 0.013 2 0 0 0 0 11.26 80548 chr16 19195169 19195169 C T rs146650723 SYT17 Synonymous SNV H213H 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 11.25 80549 chr16 19492752 19492752 C T rs35421097 TMC5 Synonymous SNV N530N 0.026 0.021 0.01 11 31 8 0.028 3 1 0 0 0 15.1 80550 chr4 104067195 104067195 T C rs35505100 CENPE Nonsynonymous SNV I1377V 0.005 0.003 0.007 5 6 1 0.013 2 0 0 0 0 Benign/Likely benign 0.003 80551 chr4 104117345 104117345 G A rs139688608 CENPE Synonymous SNV I71I 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Likely benign 15.61 80552 chr16 88495021 88495021 C A rs74032864 ZNF469 Synonymous SNV P381P 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 Benign/Likely benign 10.44 80553 chr4 72399974 72399974 C T rs140882617 SLC4A4 Nonsynonymous SNV P727S 0.016 0.029 0.003 6 19 11 0.015 1 1 0 0 0 Uncertain significance 16.19 80554 chr4 107133963 107133963 C T rs150221832 TBCK Nonsynonymous SNV A539T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.6 80555 chr4 107157622 107157622 C T rs139522309 TBCK Synonymous SNV T362T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 17.32 80556 chr4 126411525 126411525 G A rs78235204 FAT4 Synonymous SNV L4517L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 5.713 80557 chr4 129770269 129770269 A G rs376031083 JADE1 Nonsynonymous SNV N132S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 19.78 80558 chr1 180919255 180919255 C T rs2297185 KIAA1614-AS1 0 0 0.139 0 0 0 0 41 0 0 12 0 5.553 80559 chr5 176951914 176951914 G A rs116293002 FAM193B Nonsynonymous SNV S523F 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 24.9 80560 chr16 22144355 22144355 C T rs374514834 VWA3A Synonymous SNV A669A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 13.01 80561 chr16 88781072 88781072 C T rs765815294 CTU2 Nonsynonymous SNV R340W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 80562 chr4 76862005 76862005 G A rs143643676 NAAA Nonsynonymous SNV A33V 0.014 0.021 0.027 18 17 8 0.046 8 0 0 0 0 22.8 80563 chr16 23569332 23569332 G T rs375139253 UBFD1 Synonymous SNV R29R 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 3.177 80564 chr4 77255246 77255246 G A rs114878412 CCDC158 Synonymous SNV S913S 0.015 0.016 0.014 5 18 6 0.013 4 0 0 0 0 13.29 80565 chr4 77676238 77676238 G A rs150704894 SHROOM3 Synonymous SNV P1534P 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 6.339 80566 chr4 77677646 77677646 T A rs61739943 SHROOM3 Nonsynonymous SNV M1585K 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Benign 9.051 80567 chr5 177652426 177652426 C G rs762237486 PHYKPL Nonsynonymous SNV E74Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.2 80568 chr16 88930170 88930170 C T rs754129649 PABPN1L Nonsynonymous SNV R248H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 80569 chr16 27777733 27777733 G A rs61730241 KIAA0556 Nonsynonymous SNV E1305K 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Benign 21.7 80570 chr4 146695818 146695818 G A rs76077920 ZNF827 Synonymous SNV H900H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 80571 chr4 148867827 148867827 A G rs575700520 ARHGAP10 Nonsynonymous SNV I455V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 80572 chr16 89187261 89187261 C G ACSF3 Nonsynonymous SNV N128K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.573 80573 chr16 89265821 89265821 G A rs184407156 SLC22A31 Nonsynonymous SNV R77C 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 23.1 80574 chr4 79440627 79440627 G T FRAS1 Nonsynonymous SNV W3511L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 80575 chr16 29000902 29000902 C T rs138166678 LAT Nonsynonymous SNV A212V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.29 80576 chr4 152065197 152065197 C T rs3736502 SH3D19 Synonymous SNV G380G 0.011 0.008 0.014 3 13 3 0.008 4 0 0 0 0 9.424 80577 chr16 89347441 89347441 G A rs145906515 ANKRD11 Nonsynonymous SNV P1837S 0.018 0.013 0.017 7 21 5 0.018 5 0 0 0 1 Benign 0.004 80578 chr4 120221877 120221877 C T rs145398231 C4orf3 Synonymous SNV R71R 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 9.591 80579 chr3 56183065 56183065 G A rs186918021 ERC2 Synonymous SNV R415R 0.004 0.003 0.014 4 5 1 0.01 4 0 0 0 0 11.75 80580 chr16 89598371 89598371 C - rs764134543 SPG7 G352Afs*87 0.001 0 0 0 1 0 0 0 0 0 0 0 80581 chr4 154197175 154197175 G A rs763365056 TRIM2 Nonsynonymous SNV V89M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 80582 chr16 89986365 89986365 G A rs146544450 MC1R Synonymous SNV Q233Q 0.003 0.016 0 1 4 6 0.003 0 0 0 0 0 Benign 0.118 80583 chr3 58140525 58140525 C T rs140786324 FLNB Synonymous SNV F2190F 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign/Likely benign 15.52 80584 chr3 58140567 58140567 C T rs138416613 FLNB Synonymous SNV I2204I 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign/Likely benign 22.1 80585 chr3 63898360 63898360 - GCAGCAGCA rs576518931 ATXN7 Q39_P40insQQQ 0.003 0.005 0.024 1 3 2 0.003 7 0 1 0 0 80586 chr4 126241364 126241364 G T FAT4 Nonsynonymous SNV Q1266H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 80587 chr4 8398719 8398719 C T rs148373900 ACOX3 Nonsynonymous SNV R334H 0.001 0.01 0 0 1 4 0 0 0 0 0 0 24.4 80588 chr4 187175753 187175753 A C rs4253316 KLKB1 Nonsynonymous SNV Q442P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.002 80589 chr4 187584530 187584530 G A rs200633985 FAT1 Nonsynonymous SNV S1168L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 23 80590 chr1 19934634 19934634 G A rs115692978 RPS14P3 0 0 0.048 0 0 0 0 14 0 0 0 0 13.97 80591 chr4 129099645 129099645 A G rs116056522 LARP1B Nonsynonymous SNV M582V 0.016 0.005 0.044 8 19 2 0.021 13 0 0 0 0 0.001 80592 chr16 31419809 31419809 C A rs143491528 ITGAD Nonsynonymous SNV A358D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.194 80593 chr4 156634600 156634600 T C rs143472664 GUCY1A1 Synonymous SNV N479N 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 Benign 0.04 80594 chr5 35049491 35049491 G A rs142977922 PRLR Synonymous SNV A236A 0 0.005 0.01 1 0 2 0.003 3 0 0 0 0 1.31 80595 chr4 135122099 135122099 G A rs372662684 PABPC4L Synonymous SNV L26L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.18 80596 chr4 2306485 2306485 C T rs757997294 ZFYVE28 Nonsynonymous SNV D498N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 80597 chr4 2307178 2307178 G A rs141242318 ZFYVE28 Nonsynonymous SNV R267C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 80598 chr16 48596215 48596215 C G rs767931970 N4BP1 Synonymous SNV L113L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.534 80599 chr4 88344145 88344145 C T NUDT9 Nonsynonymous SNV R30C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.56 80600 chr4 159601736 159601736 G C ETFDH Nonsynonymous SNV R51P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 80601 chr4 138453084 138453084 A G rs142854176 PCDH18 Synonymous SNV D53D 0.005 0.008 0.01 3 6 3 0.008 3 0 0 1 0 4.551 80602 chr4 139100480 139100480 C T rs763434895 SLC7A11 Synonymous SNV S445S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.26 80603 chr5 36268364 36268364 T G rs61734063 RANBP3L Nonsynonymous SNV T92P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.155 80604 chr4 16020100 16020100 T C rs371887194 PROM1 Nonsynonymous SNV Q274R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 0.2 80605 chr5 37157800 37157800 A G rs867796575 CPLANE1 Synonymous SNV A2643A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.816 80606 chr5 37239878 37239878 T C rs1029779545 CPLANE1 Synonymous SNV L257L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.478 80607 chr4 90857396 90857396 C A MMRN1 Synonymous SNV S855S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.107 80608 chr1 201489285 201489285 G C rs41508046 RPS10P7 0 0 0.085 0 0 0 0 25 0 0 1 0 5.262 80609 chr1 201489302 201489302 C T rs41270953 RPS10P7 0 0 0.085 0 0 0 0 25 0 0 1 0 10.57 80610 chr5 35065650 35065650 C T rs62355478 PRLR Synonymous SNV E369E 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Benign 0.396 80611 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQ 0.003 0.003 0 0 3 1 0 0 0 0 0 0 80612 chr5 35670299 35670299 G A SPEF2 Synonymous SNV L498L 0.002 0 0 4 2 0 0.01 0 0 0 0 0 9.09 80613 chr4 169143007 169143007 T C rs150280711 DDX60 Nonsynonymous SNV N1617S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.002 80614 chr4 96045029 96045029 G A rs138801821 BMPR1B Nonsynonymous SNV V140I 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign/Likely benign 15.24 80615 chr4 149075928 149075928 A G rs151096115 NR3C2 Synonymous SNV P713P 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 0.113 80616 chr4 96052652 96052652 T A rs139872191 BMPR1B Synonymous SNV V355V 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign/Likely benign 8.974 80617 chr4 36292326 36292326 G T rs201876616 DTHD1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 23.1 80618 chr4 151223915 151223915 A G rs200295901 LRBA Nonsynonymous SNV W2627R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 80619 chr4 152203451 152203451 C G rs200120511 PRSS48 Nonsynonymous SNV Q123E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.154 80620 chr4 153864355 153864355 G A rs144913043 FHDC1 Nonsynonymous SNV C49Y 0.009 0.008 0.01 6 11 3 0.015 3 0 0 0 0 0.001 80621 chr5 37245697 37245697 G A rs139496915 CPLANE1 Nonsynonymous SNV A74V 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 Uncertain significance 11.71 80622 chr16 57609000 57609000 C G rs16957788 ADGRG5 Synonymous SNV L494L 0.01 0.016 0.014 7 12 6 0.018 4 1 0 0 0 8.827 80623 chr5 40843550 40843550 A G rs61757654 CARD6 Nonsynonymous SNV I194V 0.012 0.005 0.007 9 14 2 0.023 2 0 0 0 0 Benign 13.32 80624 chr5 40843735 40843735 C A rs35188876 CARD6 Nonsynonymous SNV F255L 0.016 0.005 0.017 11 19 2 0.028 5 0 0 0 0 23 80625 chr5 52161576 52161576 T C rs776597806 ITGA1 Synonymous SNV I183I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 80626 chr5 52227934 52227934 G T ITGA1 Synonymous SNV P943P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.69 80627 chr17 263586 263645 GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC - rs71145728 C17orf97 K330_P349del 0.015 0.003 0.061 9 18 1 0.023 18 1 0 1 0 80628 chr4 155470046 155470046 C G PLRG1 Synonymous SNV S17S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 80629 chr4 155488788 155488788 G C rs201909029 FGB Nonsynonymous SNV K119N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.12 80630 chr17 4442818 4442818 G A rs73335853 MYBBP1A Synonymous SNV S1293S 0.015 0.031 0.031 5 18 12 0.013 9 0 0 0 0 6.662 80631 chr4 41015742 41015742 T C rs11942640 APBB2 Synonymous SNV E231E 0.028 0.008 0.017 4 33 3 0.01 5 0 0 0 0 0.074 80632 chr17 4451576 4451576 T C rs73337533 MYBBP1A Nonsynonymous SNV K529R 0.019 0.036 0.027 7 22 14 0.018 8 0 0 0 0 0.014 80633 chr17 4453508 4453508 C T rs73337535 MYBBP1A Synonymous SNV T388T 0.018 0.034 0.027 7 21 13 0.018 8 0 0 0 0 12 80634 chr4 159631952 159631952 G C rs759551376 PPID Nonsynonymous SNV Q315E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 80635 chr4 17835993 17835993 C T rs371528947 NCAPG Synonymous SNV F652F 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.32 80636 chr4 42065036 42065036 G A rs143350504 SLC30A9 Synonymous SNV S310S 0.009 0.003 0.007 4 11 1 0.01 2 0 0 0 0 9.959 80637 chr4 159780786 159780786 C T FNIP2 Synonymous SNV V18V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 80638 chr5 479923 479923 G A rs778245117 SLC9A3-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 0.007 80639 chr4 44683156 44683156 G T rs150033989 GUF1 Nonsynonymous SNV S148I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 27.9 80640 chr4 184166583 184166583 T A rs376936191 WWC2 Nonsynonymous SNV M206K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 33 80641 chr4 162697105 162697105 C A rs149924977 FSTL5 Nonsynonymous SNV K176N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 80642 chr4 47538735 47538735 C T rs142744698 ATP10D Synonymous SNV I392I 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 17.64 80643 chr5 52235743 52235743 C T rs139065570 ITGA1 Nonsynonymous SNV S1085L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24.3 80644 chr16 67271283 67271283 C T rs147795243 FHOD1 Synonymous SNV T284T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 2.725 80645 chr5 112903383 112903383 T G rs76945231 YTHDC2 Nonsynonymous SNV I727M 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 14.45 80646 chr1 207646163 207646163 C T rs34349246 CR2 Synonymous SNV T539T 0.013 0.01 0.031 3 15 4 0.008 9 0 0 0 0 Benign 11.23 80647 chr4 186320890 186320890 G A rs144479244 ANKRD37 Nonsynonymous SNV G147R 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 11.96 80648 chr1 208206815 208206815 C T rs377729868 PLXNA2 Nonsynonymous SNV R1635Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 80649 chr1 20879540 20879540 C A rs758947408 FAM43B Nonsynonymous SNV P25Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 80650 chr5 59284362 59284362 G C rs775626244 PDE4D Synonymous SNV P75P 0.004 0 0 0 5 0 0 0 0 0 0 0 5.167 80651 chr1 209784873 209784873 G T rs187124482 CAMK1G Nonsynonymous SNV K297N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 80652 chr1 210415135 210415135 G A rs138093906 SERTAD4 Nonsynonymous SNV R175Q 0.01 0.003 0.003 0 12 1 0 1 0 0 0 0 29.7 80653 chr5 127702112 127702112 C T rs145259927 FBN2 Nonsynonymous SNV G754S 0.003 0.008 0 2 3 3 0.005 0 0 1 0 0 Likely benign 23.1 80654 chr5 70858297 70858297 C T BDP1 Nonsynonymous SNV P2565S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 80655 chr5 71495410 71495410 C T rs762006580 MAP1B Synonymous SNV A1950A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 80656 chr4 1801219 1801219 C T rs2305179 FGFR3 Synonymous SNV R116R 0.012 0.003 0.02 5 14 1 0.013 6 0 0 0 0 Benign 12.55 80657 chr5 71757172 71757172 G A rs148226205 ZNF366 Nonsynonymous SNV P51L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.7 80658 chr4 1803236 1803236 C T rs2305180 FGFR3 Synonymous SNV R196R 0.014 0.003 0.02 5 16 1 0.013 6 0 0 0 0 Benign 11.62 80659 chr4 1818625 1818625 T C rs115233072 LETM1 Nonsynonymous SNV K587R 0.016 0.005 0.003 6 19 2 0.015 1 0 0 0 0 Benign 20.5 80660 chr1 213009303 213009303 G T SPATA45 Synonymous SNV T63T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.991 80661 chr4 1843275 1843275 G T rs145996246 LETM1 Nonsynonymous SNV N131K 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 Benign 15.82 80662 chr4 62383065 62383065 G T ADGRL3 Nonsynonymous SNV A30S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.005 80663 chr4 2242450 2242450 G A rs148212034 HAUS3 Nonsynonymous SNV A75V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 12.09 80664 chr5 75594743 75594743 G A rs31244 SV2C Nonsynonymous SNV D543N 0.05 0.078 0.054 14 59 30 0.036 16 1 1 0 0 22.9 80665 chr4 123178574 123178574 T C rs45534531 KIAA1109 Synonymous SNV D2181D 0.041 0.029 0.027 8 48 11 0.021 8 1 0 0 1 7.353 80666 chr5 135272478 135272478 A G rs17169429 FBXL21P 0.018 0.029 0.01 13 21 11 0.033 3 0 0 0 0 20.5 80667 chr4 126371659 126371659 C T rs770333760 FAT4 Nonsynonymous SNV T3165M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 80668 chr5 77311340 77311342 CAG - rs111935323 AP3B1 A959del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 80669 chr16 77850932 77850932 C T rs138049802 VAT1L Synonymous SNV S116S 0.009 0.013 0.01 4 10 5 0.01 3 0 0 0 1 19.33 80670 chr16 80666991 80666991 A G rs74028355 CDYL2 Synonymous SNV V253V 0.019 0.008 0.01 0 22 3 0 3 0 0 0 0 4.906 80671 chr16 80667093 80667093 T C rs73592252 CDYL2 Synonymous SNV P219P 0.019 0.008 0.01 0 22 3 0 3 0 0 0 0 0.002 80672 chr5 74488590 74488590 G A rs73114825 ANKRD31 Nonsynonymous SNV P437L 0.029 0.034 0.01 12 34 13 0.031 3 0 0 0 0 18.1 80673 chr4 68934462 68934462 C T rs146652094 TMPRSS11F Nonsynonymous SNV R210K 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 7.958 80674 chr4 2943419 2943419 G A rs61740573 NOP14 Nonsynonymous SNV R697C 0.011 0.005 0.02 3 13 2 0.008 6 0 0 0 0 26.5 80675 chr4 2959372 2959372 G A rs371904916 NOP14 Synonymous SNV P97P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.578 80676 chr5 76249514 76249514 C T rs80240191 CRHBP Nonsynonymous SNV A57V 0.01 0.008 0.003 5 12 3 0.013 1 0 0 0 0 23.9 80677 chr17 7637938 7637938 A G rs144934136 DNAH2 Nonsynonymous SNV K297R 0.014 0.01 0.017 3 16 4 0.008 5 0 0 0 0 19.28 80678 chr4 13602231 13602231 G A rs146514917 BOD1L1 Nonsynonymous SNV A2098V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 80679 chr4 3024158 3024158 A C rs139428941 GRK4 Nonsynonymous SNV N123T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 27.7 80680 chr1 223286129 223286129 G A rs764535 TLR5 Nonsynonymous SNV T82I 0.002 0.003 0.02 3 2 1 0.008 6 0 0 0 0 Benign 1.499 80681 chr17 8025138 8025138 C T rs62063066 HES7 Synonymous SNV P148P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.2 80682 chr5 79095299 79095299 A G rs115059007 CMYA5 Nonsynonymous SNV N4024D 0.038 0.036 0.017 14 45 14 0.036 5 2 0 0 0 23.3 80683 chr4 73931027 73931027 T G rs913876171 COX18 Nonsynonymous SNV M183L 0.01 0.005 0 0 12 2 0 0 0 0 0 0 0.851 80684 chr16 84063130 84063130 C G rs11862366 SLC38A8 Nonsynonymous SNV S220T 0.017 0.016 0.007 3 20 6 0.008 2 0 0 0 0 23.5 80685 chr4 146032193 146032193 C T rs145393813 ABCE1 Synonymous SNV V229V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 18.88 80686 chr5 79734689 79734689 A G rs376427316 ZFYVE16 Nonsynonymous SNV N729D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.23 80687 chr4 2744091 2744091 C T rs112837508 TNIP2 Nonsynonymous SNV A312T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.013 80688 chr4 76782047 76782047 G C rs746536776 PPEF2 Nonsynonymous SNV Q679E 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24 80689 chr5 79752375 79752375 G A rs142821837 ZFYVE16 Synonymous SNV K1262K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.87 80690 chr4 3516560 3516560 G A rs11549512 LRPAP1 Synonymous SNV S310S 0.032 0.063 0.051 20 37 24 0.051 15 1 1 1 0 10.83 80691 chr17 9674874 9674874 G A rs140949806 DHRS7C Synonymous SNV F289F 0.006 0.005 0 0 7 2 0 0 0 0 0 0 10.69 80692 chr5 82817967 82817967 C T rs570361402 VCAN Nonsynonymous SNV T1281M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 80693 chr5 82649061 82649062 AC - rs747802565 XRCC4 *337* 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 80694 chr17 10216063 10216063 G A rs150690480 MYH13 Nonsynonymous SNV A1398V 0.009 0.005 0.01 2 10 2 0.005 3 0 0 0 0 26.2 80695 chr4 77660970 77660970 T G SHROOM3 Synonymous SNV A548A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.01 80696 chr4 37445791 37445791 C T rs150729425 NWD2 Synonymous SNV V727V 0.024 0.029 0.01 8 28 11 0.021 3 1 1 0 0 5.564 80697 chr4 40434725 40434725 C T rs755929230 RBM47 Synonymous SNV A426A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.67 80698 chr4 155412444 155412444 G A rs183736948 DCHS2 Nonsynonymous SNV L22F 0.007 0.003 0.02 3 8 1 0.008 6 0 0 0 0 5.798 80699 chr1 228447463 228447463 G A rs147633098 OBSCN Nonsynonymous SNV R1708H 0.018 0.026 0.01 7 21 10 0.018 3 0 0 0 0 6.217 80700 chr17 10600809 10600809 G C rs61753148 SCO1 Nonsynonymous SNV L6V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.327 80701 chr4 156294333 156294333 T C rs34082815 MAP9 Nonsynonymous SNV M146V 0.024 0.016 0.031 5 28 6 0.013 9 0 0 0 0 0.001 80702 chr1 228491633 228491633 G A rs11584418 OBSCN Nonsynonymous SNV V4666I 0.044 0.044 0.027 18 52 17 0.046 8 0 0 0 0 6.844 80703 chr17 11784688 11784688 C T rs117577626 DNAH9 Synonymous SNV A3588A 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 7.881 80704 chr4 42551048 42551048 T C rs34999127 ATP8A1 Nonsynonymous SNV N530S 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 17.93 80705 chr1 228504507 228504507 G T rs114932694 OBSCN Synonymous SNV V4461V 0.016 0.013 0.031 6 19 5 0.015 9 0 0 0 0 4.879 80706 chr5 9044647 9044647 G A rs11741172 SEMA5A Synonymous SNV L981L 0.014 0.018 0.007 5 16 7 0.013 2 1 0 0 0 11.04 80707 chr5 9044674 9044674 G A rs11741186 SEMA5A Synonymous SNV I972I 0.014 0.018 0.014 5 16 7 0.013 4 1 0 0 0 12.8 80708 chr5 94803605 94803605 G A TTC37 Nonsynonymous SNV H1529Y 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 80709 chr1 228550429 228550429 C T rs11585049 OBSCN Nonsynonymous SNV P6272S 0.043 0.044 0.031 17 51 17 0.044 9 0 0 0 0 8.342 80710 chr1 228565329 228565329 G A rs61730829 OBSCN Nonsynonymous SNV V7807I 0.016 0.013 0.031 6 19 5 0.015 9 0 0 0 0 22.9 80711 chr1 228582643 228582643 C T rs34297060 TRIM11 Synonymous SNV S390S 0.04 0.039 0.017 15 47 15 0.038 5 0 0 0 0 7.934 80712 chr1 228588713 228588713 G A rs61758088 TRIM11 Synonymous SNV I229I 0.012 0.005 0.01 5 14 2 0.013 3 0 0 0 0 10.8 80713 chr5 95152316 95152319 AAAG - GLRX F74Lfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 80714 chr1 228602513 228602513 C T rs2291998 TRIM17 Synonymous SNV A87A 0.039 0.039 0.017 15 46 15 0.038 5 0 0 0 0 10.16 80715 chr1 228602564 228602564 C T rs60640636 TRIM17 Synonymous SNV P70P 0.04 0.039 0.02 16 47 15 0.041 6 0 0 0 0 9.365 80716 chr4 8221108 8221108 C T rs41266527 SH3TC1 Synonymous SNV P245P 0.012 0.008 0.017 2 14 3 0.005 5 0 0 0 0 13.96 80717 chr1 229623292 229623292 G A rs34971259 NUP133 Synonymous SNV N421N 0.02 0.026 0.034 6 23 10 0.015 10 1 0 0 0 7.82 80718 chr1 230492931 230492931 G A rs114204934 PGBD5 Synonymous SNV D156D 0.018 0.013 0.024 1 21 5 0.003 7 0 0 0 0 9.423 80719 chr4 8235241 8235241 G A rs62286463 SH3TC1 0.007 0.016 0.02 9 8 6 0.023 6 0 0 0 0 25 80720 chr1 231351150 231351150 G A rs41307734 TRIM67 Synonymous SNV P772P 0.01 0.005 0.02 2 12 2 0.005 6 0 0 0 0 12.11 80721 chr5 148386525 148386525 T C rs6871030 SH3TC2 Synonymous SNV P1198P 0.037 0.023 0.02 4 44 9 0.01 6 1 1 1 0 Benign 3.755 80722 chr5 96228109 96228109 C T rs113463435 ERAP2 Synonymous SNV S314S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 80723 chr5 149360143 149360143 T C rs116302615 SLC26A2 Synonymous SNV L329L 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.008 80724 chr6 105781275 105781275 T C rs374389008 PREP Nonsynonymous SNV N310S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 80725 chr16 88909567 88909567 C T rs550161070 GALNS Nonsynonymous SNV M3I 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 3.468 80726 chr16 88931477 88931477 G A rs370812069 PABPN1L Synonymous SNV V173V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.579 80727 chr4 55980383 55980383 T C rs56181155 KDR Synonymous SNV L236L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.765 80728 chr1 233394248 233394248 T C rs10910120 PCNX2 Nonsynonymous SNV T454A 0.001 0.01 0.01 1 1 4 0.003 3 0 0 0 0 0.615 80729 chr6 106959939 106959939 C - rs541518108 CRYBG1 S318Vfs*59 0.003 0 0.003 0 3 0 0 1 0 0 0 0 80730 chr1 233515385 233515385 C G rs751135056 MAP3K21 Nonsynonymous SNV P878R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.9 80731 chr6 10709604 10709604 C T rs148756388 PAK1IP1 Synonymous SNV G366G 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.93 80732 chr4 47408709 47408709 A T rs6289 GABRB1 Synonymous SNV T282T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 80733 chr4 57307919 57307919 A G rs199691030 PAICS Nonsynonymous SNV K36R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27.6 80734 chr4 5733317 5733317 G A rs41269549 EVC Nonsynonymous SNV D184N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 80735 chr6 109197379 109197379 T C rs9386758 ARMC2 Star tloss M2del 0.015 0.026 0.014 5 18 10 0.013 4 0 0 0 0 0.002 80736 chr6 109233725 109233725 T C rs11153136 ARMC2 Synonymous SNV G273G 0.015 0.026 0.014 5 18 10 0.013 4 0 0 0 0 0.758 80737 chr6 106968674 106968674 C T rs1417354 CRYBG1 Synonymous SNV S789S 0.012 0.023 0.017 5 14 9 0.013 5 0 0 0 0 8.042 80738 chr4 57377417 57377417 C G ARL9 Nonsynonymous SNV L116V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.5 80739 chr16 89347289 89347289 T C rs147726863 ANKRD11 Synonymous SNV Q1887Q 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 0.011 80740 chr17 19285136 19285136 C T MAPK7 Nonsynonymous SNV P368L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 80741 chr4 177608981 177608981 C T rs200182587 VEGFC Nonsynonymous SNV G269R 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 24.2 80742 chr6 109752450 109752450 G A rs775037794 PPIL6 Synonymous SNV H78H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.149 80743 chr1 236687698 236687698 A G rs534961534 LGALS8-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 0.22 80744 chr4 5838576 5838576 C T rs146254380 CRMP1 Synonymous SNV A456A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.5 80745 chr6 109548377 109548377 C T rs147068045 CCDC162P 0.015 0.01 0 5 18 4 0.013 0 0 0 0 0 25.1 80746 chr17 21075488 21075488 G A rs759070460 DHRS7B Nonsynonymous SNV A45T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 80747 chr6 109548830 109548830 G A rs150677866 CCDC162P 0.015 0.01 0 5 18 4 0.013 0 0 0 0 0 10.8 80748 chr4 54348009 54348009 G A rs116172001 LNX1 Nonsynonymous SNV R359C 0.01 0.008 0 5 12 3 0.013 0 0 0 0 0 25 80749 chr6 109871399 109871399 T G rs149506107 AK9 Nonsynonymous SNV E953A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 23.5 80750 chr4 54966783 54966783 G A rs542267886 GSX2 Nonsynonymous SNV G91E 0 0 0 2 0 0 0.005 0 0 0 0 0 14.36 80751 chr6 110763651 110763651 A G rs770380279 SLC22A16 Nonsynonymous SNV S327P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.219 80752 chr6 111498756 111498756 G A SLC16A10 Nonsynonymous SNV S277N 0 0.003 0 0 0 1 0 0 0 0 0 0 13 80753 chr6 111689082 111689082 C T rs3218606 REV3L Nonsynonymous SNV R1970H 0.014 0.013 0.007 2 16 5 0.005 2 0 0 0 0 22.7 80754 chr4 6864479 6864479 C T rs187473593 KIAA0232 Synonymous SNV S790S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.08 80755 chr5 156378740 156378740 G A rs146996115 TIMD4 Synonymous SNV P154P 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 0.785 80756 chr4 57441727 57441727 C T rs28398253 THEGL Nonsynonymous SNV P260L 0.061 0.052 0.061 25 72 20 0.064 18 0 0 0 0 12.8 80757 chr4 95173810 95173810 A G rs61750822 SMARCAD1 Synonymous SNV E311E 0.003 0.016 0 1 4 6 0.003 0 0 0 0 0 Benign 0.626 80758 chr1 241667523 241667523 C T rs61737760 FH Synonymous SNV P309P 0.019 0.013 0.024 19 22 5 0.049 7 0 0 0 1 Benign 17.55 80759 chr4 187004544 187004544 C T rs35111588 TLR3 Synonymous SNV N568N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 6.696 80760 chr4 95376504 95376504 A G rs75841704 PDLIM5 Nonsynonymous SNV K22R 0.018 0.029 0.037 8 21 11 0.021 11 0 0 0 0 27.8 80761 chr5 157102156 157102156 C T rs78469140 C5orf52 Nonsynonymous SNV S90F 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 25.3 80762 chr4 71390616 71390616 G A rs151041998 AMTN Nonsynonymous SNV G77S 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 10.87 80763 chr17 26696680 26696680 T A rs112887300 VTN Nonsynonymous SNV E126V 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 Benign 6.708 80764 chr4 71888240 71888240 C T rs67437265 DCK Nonsynonymous SNV P122S 0.009 0.013 0.003 4 11 5 0.01 1 0 0 0 0 26.3 80765 chr5 10411635 10411635 A C rs146197042 MARCHF6 Nonsynonymous SNV N523H 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 0.631 80766 chr1 24671418 24671418 A G rs116396279 GRHL3 Nonsynonymous SNV N438S 0.026 0.031 0.024 18 31 12 0.046 7 0 0 1 1 Benign 0.753 80767 chr4 2306129 2306129 C T rs533706467 ZFYVE28 Synonymous SNV A616A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.96 80768 chr4 2307053 2307053 G A rs377128813 ZFYVE28 Synonymous SNV D308D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.989 80769 chr1 247151487 247151487 C T rs55762230 ZNF695 Nonsynonymous SNV M110I 0.026 0.005 0.017 5 31 2 0.013 5 0 0 0 0 0.071 80770 chr1 247201591 247201591 T C rs61748726 ZNF670 Synonymous SNV K109K 0.029 0.005 0.017 5 34 2 0.013 5 0 0 0 0 9.691 80771 chr4 265324 265324 G C ZNF732 Nonsynonymous SNV T441S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.4 80772 chr4 70504823 70504823 G C rs149059274 UGT2A1, UGT2A2 Nonsynonymous SNV T179R 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 23.4 80773 chr6 13014262 13014262 G T rs145145067 PHACTR1 Nonsynonymous SNV E48D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.22 80774 chr17 30815229 30815229 G T rs764319776 CDK5R1 Synonymous SNV T197T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.941 80775 chr4 70505072 70505072 A G rs151156143 UGT2A1, UGT2A2 Nonsynonymous SNV I96T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.05 80776 chr4 3076603 3076603 - CAGCAGCAGCAG HTT Q38_P39insQQQQ 0.008 0.016 0 10 9 6 0.026 0 1 1 0 0 80777 chr4 3317918 3317918 C G rs79640085 RGS12 Synonymous SNV A7A 0.028 0.013 0.02 12 33 5 0.031 6 1 0 0 0 6.546 80778 chr4 3317943 3317943 T G rs111680504 RGS12 Nonsynonymous SNV S16A 0.028 0.013 0.02 12 33 5 0.031 6 1 0 0 0 0.001 80779 chr4 3317951 3317951 A G rs113298998 RGS12 Synonymous SNV P18P 0.028 0.013 0.02 12 33 5 0.031 6 1 0 0 0 0.071 80780 chr4 3318806 3318806 C T rs75833497 RGS12 Synonymous SNV A303A 0.028 0.013 0.02 12 33 5 0.031 6 1 0 0 0 16 80781 chr4 3319275 3319275 G A rs80251844 RGS12 Nonsynonymous SNV V460M 0.028 0.013 0.02 12 33 5 0.031 6 1 0 0 0 0.15 80782 chr4 3441354 3441354 C T rs148872141 RGS12 Synonymous SNV P781P 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 12.19 80783 chr6 131490311 131490311 C T rs115317712 AKAP7 Nonsynonymous SNV H163Y 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 80784 chr17 33491164 33491164 A G rs41389545 UNC45B Nonsynonymous SNV K377R 0.009 0.008 0.017 2 11 3 0.005 5 0 0 0 0 Benign/Likely benign 15.98 80785 chr5 176289788 176289788 C T rs61739494 UNC5A Synonymous SNV N78N 0.019 0.013 0.014 6 22 5 0.015 4 0 0 0 0 16.65 80786 chr17 33504148 33504148 G A rs137917897 UNC45B Nonsynonymous SNV R634Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 80787 chr4 3494632 3494632 G A rs150415034 DOK7 Nonsynonymous SNV A163T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 1.519 80788 chr5 176737673 176737673 G A MXD3 Nonsynonymous SNV R68C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 34 80789 chr5 176916620 176916620 C T rs765938178 PDLIM7 Nonsynonymous SNV A215T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.28 80790 chr1 248154493 248154493 T C rs201911921 OR2L1P 0 0 0.027 0 0 0 0 8 0 0 0 0 0.435 80791 chr6 139204007 139204015 AGGTAAATG - rs554645676 ECT2L K676Mfs*16 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 1 80792 chr6 138745896 138745896 A G rs117203533 NHSL1 Synonymous SNV H1385H 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 6.893 80793 chr6 142400004 142400004 C T rs149123905 NMBR Synonymous SNV T5T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.37 80794 chr5 178373440 178373440 G T rs767545892 ZNF454 Synonymous SNV L38L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 5.952 80795 chr5 127419932 127419937 GCGGCG - rs777669960 SLC12A2 A106_A107del 0.013 0.008 0.01 13 15 3 0.033 3 0 0 0 0 80796 chr5 1279505 1279505 G A rs33956095 TERT Synonymous SNV G677G 0.014 0.01 0.007 4 16 4 0.01 2 1 0 0 0 Benign 5.524 80797 chr17 37093510 37093510 T C rs113358400 FBXO47 Nonsynonymous SNV N426S 0.013 0.005 0.007 8 15 2 0.021 2 0 0 0 0 8.489 80798 chr4 77283295 77283295 T C rs147626666 CCDC158 Synonymous SNV E668E 0.006 0 0 2 7 0 0.005 0 0 0 0 0 4.748 80799 chr6 144759981 144759981 C T rs545375734 UTRN Nonsynonymous SNV P448S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.91 80800 chr1 248685793 248685793 C T rs144767509 OR2G6 Synonymous SNV T282T 0.01 0.003 0.017 1 12 1 0.003 5 1 0 0 0 8.614 80801 chr6 146126163 146126163 G A rs150645956 FBXO30 Nonsynonymous SNV T460I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 80802 chr5 179201226 179201226 A C rs148053500 MAML1 Nonsynonymous SNV N800T 0.01 0.016 0.007 3 12 6 0.008 2 0 0 0 0 14.43 80803 chr17 37898545 37898545 C T GRB7 Synonymous SNV C20C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.232 80804 chr6 147704113 147704113 A G rs34677388 STXBP5 Synonymous SNV S1095S 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 9.42 80805 chr1 26107481 26107481 G A rs141849223 MAN1C1 Nonsynonymous SNV V510M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.98 80806 chr17 38420815 38420815 C T rs201108912 WIPF2 Synonymous SNV A129A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.57 80807 chr1 26146514 26146514 G C rs1127818 LOC646471 0 0 0.173 0 0 0 0 51 0 0 22 0 5.984 80808 chr4 42895396 42895396 C T rs367784906 GRXCR1 Nonsynonymous SNV P38L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Uncertain significance 11.95 80809 chr6 151161330 151161330 C G rs139427843 PLEKHG1 Synonymous SNV P1113P 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 3.623 80810 chr4 8224690 8224690 C T rs144259919 SH3TC1 Synonymous SNV Y336Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.568 80811 chr5 134782524 134782524 C T rs772981979 DCANP1 Nonsynonymous SNV G92E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.012 80812 chr4 49034596 49034596 T G rs201280789 CWH43 Nonsynonymous SNV S481A 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 24.9 80813 chr4 52948574 52948574 G A rs137981042 SPATA18 Synonymous SNV S234S 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 13.91 80814 chr1 27627915 27627915 C T rs377146720 WDTC1 Synonymous SNV R477R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 80815 chr5 13736035 13736035 G C DNAH5 Nonsynonymous SNV T3821R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.4 80816 chr4 54364990 54364990 G A rs35082655 LNX1 Synonymous SNV L170L 0.026 0.021 0.02 5 31 8 0.013 6 0 0 0 0 10.19 80817 chr4 87666225 87666225 A G rs61750815 PTPN13 Nonsynonymous SNV H865R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 26.2 80818 chr4 55972946 55972946 A G rs34231037 KDR Nonsynonymous SNV C482R 0.036 0.023 0.044 5 42 9 0.013 13 0 0 0 0 Likely benign 24.5 80819 chr6 157100006 157100008 GGA - rs587779748 ARID1B G319del 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 80820 chr1 28240648 28240648 C T rs28988897 RPA2 Nonsynonymous SNV G23R 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 19.72 80821 chr5 13794105 13794105 C T DNAH5 Synonymous SNV K2650K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.54 80822 chr4 88036116 88036116 G A rs148578175 AFF1 Nonsynonymous SNV V342I 0.021 0.016 0.031 4 25 6 0.01 9 0 0 0 0 Benign 13.55 80823 chr4 56762938 56762938 G A rs35001804 EXOC1 Nonsynonymous SNV G655E 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 32 80824 chr1 28832586 28832586 T G rs11810945 SNHG3 0 0 0.082 0 0 0 0 24 0 0 0 0 6.892 80825 chr1 28835271 28835272 AT - rs148695641 SNORA73B 0 0 0.078 0 0 0 0 23 0 0 0 0 80826 chr1 28835427 28835427 T - rs199555587 SNHG3 0 0 0.082 0 0 0 0 24 0 0 0 0 80827 chr4 955357 955357 C T rs138148951 DGKQ Synonymous SNV S824S 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 10.07 80828 chr5 34824089 34824089 C T rs115146575 RAI14 Synonymous SNV T685T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 12.26 80829 chr6 159029487 159029487 C T rs117665206 TMEM181 Nonsynonymous SNV R403C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 33 80830 chr5 138994490 138994490 T C rs776833205 UBE2D2 Synonymous SNV N81N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.773 80831 chr5 139231286 139231286 G A rs148371256 NRG2 Nonsynonymous SNV R493W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 34 80832 chr4 5731074 5731074 C T rs16837598 EVC Nonsynonymous SNV A114V 0.02 0.008 0.003 6 24 3 0.015 1 0 0 0 1 Benign 27.4 80833 chr4 985213 985213 C A rs142651185 SLC26A1 Synonymous SNV L93L 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Benign 7.964 80834 chr1 32259791 32259791 C T rs34341430 SPOCD1 Nonsynonymous SNV A266T 0.022 0.026 0.051 10 26 10 0.026 15 1 0 2 0 0.003 80835 chr1 32687498 32687498 C T rs777514432 TMEM234 Synonymous SNV Q46Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 80836 chr1 32800593 32800593 T C rs752941315 MARCKSL1 Nonsynonymous SNV I65V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 80837 chr5 140176843 140176843 C A rs146594045 PCDHA2 Nonsynonymous SNV P765H 0.004 0.013 0 0 5 5 0 0 0 0 0 0 14.91 80838 chr5 102520419 102520419 T A PPIP5K2 Nonsynonymous SNV V990E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 80839 chr5 37036492 37036492 C T rs61748200 NIPBL Synonymous SNV S1958S 0.024 0.023 0.153 11 28 9 0.028 45 10 3 4 3 Benign 16.19 80840 chr5 37327781 37327781 C T rs61756011 NUP155 Synonymous SNV V658V 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 17.35 80841 chr4 985275 985275 C T rs74824334 SLC26A1 Nonsynonymous SNV V73I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.018 80842 chr6 160505207 160505207 A G rs1805075 IGF2R Nonsynonymous SNV N2020S 0.027 0.021 0.02 15 32 8 0.038 6 2 0 0 0 4.807 80843 chr5 38510603 38510603 G A rs61748202 LIFR Synonymous SNV T318T 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 Benign/Likely benign 7.001 80844 chr6 160577011 160577011 G A rs41267797 SLC22A1 Nonsynonymous SNV V464I 0.016 0.026 0.024 11 19 10 0.028 7 0 0 1 0 7.258 80845 chr5 40765217 40765217 T C rs56138995 PRKAA1 Synonymous SNV E171E 0.013 0.018 0.014 3 15 7 0.008 4 0 0 0 0 Benign 0.062 80846 chr1 34189831 34189831 G A rs146958735 CSMD2 Synonymous SNV N989N 0.016 0.005 0.02 8 19 2 0.021 6 0 0 1 0 10.71 80847 chr17 7849083 7849083 A C rs774012754 CNTROB Nonsynonymous SNV E591A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 10.58 80848 chr4 6602402 6602402 G A rs148386673 MAN2B2 Synonymous SNV T435T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 10.21 80849 chr5 108382808 108382808 T C rs144241765 FER Synonymous SNV I242I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.116 80850 chr5 1083981 1083981 G A rs34815306 SLC12A7 Synonymous SNV S336S 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Benign 8.174 80851 chr5 108679956 108679956 T C rs773928197 PJA2 Nonsynonymous SNV I646V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 80852 chr1 38034574 38034574 C T rs143680745 GNL2 Synonymous SNV S399S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.75 80853 chr17 40061836 40061836 C T rs140050646 ACLY Synonymous SNV Q314Q 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 Benign 14.98 80854 chr1 38185710 38185710 T C rs768211661 EPHA10 Synonymous SNV L811L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.279 80855 chr17 40262742 40262742 T C rs140251603 DHX58 Nonsynonymous SNV Q187R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.65 80856 chr17 40344516 40344516 A G rs144632542 GHDC Nonsynonymous SNV L211S 0.005 0 0.003 0 6 0 0 1 1 0 0 0 0.008 80857 chr1 39781321 39781321 A G rs151139850 MACF1 Nonsynonymous SNV K1141R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24.2 80858 chr17 40940172 40940172 T C rs56030257 WNK4 Nonsynonymous SNV S294P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 18.25 80859 chr5 118506603 118506603 A C rs9791089 DMXL1 Synonymous SNV V2039V 0.029 0.029 0.014 13 34 11 0.033 4 1 0 0 1 0.03 80860 chr5 118506685 118506685 G A rs9790916 DMXL1 Nonsynonymous SNV V2067M 0.021 0.021 0.014 10 25 8 0.026 4 1 0 0 1 23.1 80861 chr17 41002110 41002110 T A rs149660468 AOC2 Synonymous SNV A645A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 11.2 80862 chr5 118506805 118506805 A T rs9791092 DMXL1 Nonsynonymous SNV T2107S 0.021 0.021 0.014 10 25 8 0.026 4 1 0 0 1 0.004 80863 chr6 168709209 168709209 G C rs192935251 DACT2 Nonsynonymous SNV P240A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 80864 chr6 169646361 169646361 C T rs201754542 THBS2 Nonsynonymous SNV V209I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.32 80865 chr6 167570922 167570922 C A GPR31 Nonsynonymous SNV G133V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.011 80866 chr17 42266807 42266807 C G rs200411937 TMUB2 Synonymous SNV G131G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.086 80867 chr17 42745180 42745180 A G rs77416189 MEIOC Nonsynonymous SNV Y634C 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23.9 80868 chr6 17706524 17706524 C T rs61746226 NUP153 Nonsynonymous SNV G32E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 22.6 80869 chr6 170060843 170060843 G A rs201122874 WDR27 Stop gain R158X 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 32 80870 chr5 118813182 118813182 A T rs28943589 HSD17B4 Nonsynonymous SNV K122N 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign 11.71 80871 chr5 129520330 129520330 G A rs143055952 CHSY3 Nonsynonymous SNV V499I 0.012 0 0 2 14 0 0.005 0 0 0 0 0 0.005 80872 chr5 118877660 118877660 A G rs28943594 HSD17B4 Nonsynonymous SNV M710V 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Benign 11.29 80873 chr6 18139228 18139228 C T rs1800460 TPMT Nonsynonymous SNV A154T 0.01 0.008 0.01 9 12 3 0.023 3 0 0 0 0 Likely benign, other 28.4 80874 chr5 118877677 118877677 C T rs12714 HSD17B4 Synonymous SNV Y715Y 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Benign 13.09 80875 chr4 7691290 7691290 C T rs185727915 SORCS2 Synonymous SNV T522T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.5 80876 chr17 44827216 44827216 C T rs375489330 NSF Synonymous SNV S662S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.626 80877 chr5 56542905 56542905 A G rs151161676 GPBP1 Nonsynonymous SNV T230A 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 3.367 80878 chr5 131729380 131729380 G A rs28383481 SLC22A5 Nonsynonymous SNV R488H 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 80879 chr6 17706656 17706656 A G LOC105374952 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 80880 chr5 63257465 63257465 T C rs1799921 HTR1A Nonsynonymous SNV I28V 0.017 0.026 0.014 15 20 10 0.038 4 0 0 0 0 Benign 0.013 80881 chr5 132228048 132228048 G A rs138116584 AFF4 Synonymous SNV P815P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.68 80882 chr5 65455141 65455141 G A rs72770236 SREK1 Synonymous SNV P130P 0.012 0.018 0.007 4 14 7 0.01 2 0 0 0 0 5.293 80883 chr5 148989216 148989216 C T rs116647383 ARHGEF37 Nonsynonymous SNV P139L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.8 80884 chr4 78081977 78081977 G A rs1033522669 CCNG2 Nonsynonymous SNV R127Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 80885 chr5 128301891 128301895 AAACT - rs540473562 SLC27A6 K21Pfs*8 0.003 0 0 1 3 0 0.003 0 0 0 0 0 80886 chr1 46751448 46751448 G A rs77417631 LRRC41 Nonsynonymous SNV P361S 0.003 0.005 0.007 5 3 2 0.013 2 0 0 0 0 Likely benign 18.91 80887 chr17 48151296 48151296 T C rs117783166 ITGA3 Synonymous SNV A391A 0.012 0.016 0 9 14 6 0.023 0 0 0 0 0 Benign 0.031 80888 chr6 26199253 26199253 G A rs201886747 H2AC7 Synonymous SNV D73D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.067 80889 chr4 79792083 79792085 CAG - rs376418550 BMP2K Q486del 0.011 0.008 0.007 6 13 3 0.015 2 0 0 0 0 80890 chr5 149681850 149681850 G A rs200012526 ARSI Synonymous SNV A29A 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 Benign 14.43 80891 chr6 25967144 25967144 G A rs61737163 TRIM38 Nonsynonymous SNV V132I 0.003 0.005 0.014 3 4 2 0.008 4 0 0 1 0 13.41 80892 chr6 26017934 26017934 G A rs62000985 H1-1 Synonymous SNV P9P 0.003 0.003 0.014 3 3 1 0.008 4 0 0 1 0 7.044 80893 chr6 26027375 26027375 G C H4C2 Nonsynonymous SNV R36G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 80894 chr6 26107824 26107824 G T rs143215132 H1-6 Nonsynonymous SNV S166R 0.003 0.003 0.014 3 3 1 0.008 4 0 0 1 0 0.008 80895 chr6 26108203 26108203 G A rs35724031 H1-6 Nonsynonymous SNV P40L 0.003 0.003 0.014 3 3 1 0.008 4 0 0 1 0 11.52 80896 chr17 48818502 48818502 G A rs35882911 LUC7L3 Synonymous SNV E82E 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 12.82 80897 chr6 27833315 27833315 C G rs41269275 H2AC16 Synonymous SNV A61A 0.023 0.01 0.02 5 27 4 0.013 6 0 0 1 0 15.6 80898 chr6 27834677 27834677 C T rs34144478 H1-5 Nonsynonymous SNV A211T 0.025 0.01 0.02 5 29 4 0.013 6 0 0 1 0 22 80899 chr6 28227993 28227993 G A rs147161729 NKAPL Nonsynonymous SNV A282T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 24.2 80900 chr5 139508113 139508113 A G rs115235886 IGIP Nonsynonymous SNV T18A 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 10.2 80901 chr5 138707916 138707916 G T rs72552250 SLC23A1 Nonsynonymous SNV Q526K 0.007 0.003 0.014 6 8 1 0.015 4 0 0 0 0 13.11 80902 chr5 138714976 138714976 G A rs115034913 SLC23A1 Synonymous SNV G331G 0.011 0.003 0.01 6 13 1 0.015 3 0 0 0 0 12.92 80903 chr5 75858369 75858369 C T rs376517879 IQGAP2 Nonsynonymous SNV R49C 0.011 0.008 0 8 13 3 0.021 0 0 0 0 0 35 80904 chr6 28219377 28219377 A G rs138765444 ZKSCAN4 Synonymous SNV L128L 0.011 0.005 0.024 0 13 2 0 7 1 0 0 0 6.302 80905 chr5 140167166 140167166 G A rs375328867 PCDHA1 Nonsynonymous SNV G431S 0.008 0.008 0 0 9 3 0 0 0 0 0 0 27.5 80906 chr1 53925373 53925373 - CCGCCC rs575081928 DMRTB1 P87_V88insAP 0.003 0 0.044 0 3 0 0 13 1 0 1 0 80907 chr1 54519800 54519800 G A rs74085143 MIR4781 0 0 0.017 0 0 0 0 5 0 0 0 0 7.267 80908 chr6 31125161 31125161 - CCT rs774720727 CCHCR1 0.003 0 0 0 4 0 0 0 2 0 0 0 80909 chr4 8621060 8621060 G A rs112947342 CPZ Nonsynonymous SNV A548T 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 0.007 80910 chr5 77396836 77396838 TTC - rs199702315 AP3B1 K755del 0.008 0.018 0.014 3 9 7 0.008 4 0 0 0 0 80911 chr5 139227514 139227514 C G rs752438448 NRG2 Synonymous SNV S781S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.393 80912 chr6 32522495 32522495 G A rs184809771 HLA-DRB6 0.048 0.021 0.082 19 56 8 0.049 24 23 2 12 7 6.375 80913 chr6 32610529 32610529 A G rs13379 HLA-DQA1 Synonymous SNV Q252Q 0.045 0.018 0.071 17 53 7 0.044 21 19 1 9 5 0.008 80914 chr17 58156192 58156192 A G rs201830616 HEATR6 Synonymous SNV N28N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.61 80915 chr5 157218845 157218845 C A CLINT1 Nonsynonymous SNV A416S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.59 80916 chr4 88533518 88533518 G T rs200927888 DSPP Synonymous SNV L60L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.379 80917 chr5 78612013 78612013 A G rs199955158 JMY Synonymous SNV L950L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.99 80918 chr4 88583176 88583176 A G DMP1 Synonymous SNV Q66Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.024 80919 chr5 140167038 140167038 C G rs782206704 PCDHA1 Nonsynonymous SNV S388C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.95 80920 chr5 140348934 140348934 G A rs782345683 PCDHAC2 Synonymous SNV G861G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 4.296 80921 chr5 140480885 140480885 G A rs200289588 PCDHB3 Nonsynonymous SNV G218S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 80922 chr5 79025290 79025290 G A rs112038326 CMYA5 Synonymous SNV S234S 0.012 0.016 0.007 5 14 6 0.013 2 0 0 0 0 Benign 7.345 80923 chr5 162945299 162945299 G A rs768283411 MAT2B Nonsynonymous SNV R312Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.2 80924 chr5 140730296 140730296 G A rs763719542 PCDHGB1 Nonsynonymous SNV A157T 0.008 0.008 0 0 9 3 0 0 0 0 0 0 24.5 80925 chr5 79363860 79363860 C T rs17882372 THBS4 Nonsynonymous SNV A329V 0.01 0.018 0 5 12 7 0.013 0 0 0 0 0 Benign 8.375 80926 chr5 140736303 140736303 G C PCDHGA4 Synonymous SNV G543G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 80927 chr5 140773042 140773042 C G rs200282311 PCDHGA8 Nonsynonymous SNV P221R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.34 80928 chr6 34256569 34256569 G A rs138914906 NUDT3, RPS10-NUDT3 Synonymous SNV Y160Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.069 80929 chr17 62135277 62135277 T C rs746595893 ERN1 Nonsynonymous SNV H428R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 80930 chr6 33768867 33768867 G C rs146896135 MLN Nonsynonymous SNV A25G 0.014 0.01 0.017 5 17 4 0.013 5 0 0 0 0 10.07 80931 chr6 34122946 34122946 C A rs577158119 GRM4 Synonymous SNV A74A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.51 80932 chr5 140778962 140778962 G A rs200724467 PCDHGB5 Nonsynonymous SNV R423K 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.269 80933 chr5 140787962 140787962 A G rs200317374 PCDHGB6 Nonsynonymous SNV K65E 0.005 0.003 0.017 3 6 1 0.008 5 0 0 0 0 17.82 80934 chr5 140865586 140865586 T C rs2078071 PCDHGC4 Synonymous SNV S282S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.05 80935 chr5 140870973 140870973 C G rs773729429 PCDHGC5 Nonsynonymous SNV D722E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 80936 chr5 169685109 169685109 T C LCP2 Synonymous SNV S344S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.16 80937 chr5 14741984 14741984 T C rs2288474 ANKH Synonymous SNV A321A 0.036 0.047 0.034 6 42 18 0.015 10 1 0 0 1 Benign 3.191 80938 chr17 32953723 32953723 C A TMEM132E Synonymous SNV S215S 0.014 0.003 0 1 16 1 0.003 0 0 0 0 0 12.14 80939 chr17 66872802 66872802 G T rs1481 ABCA8 Synonymous SNV P1374P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.055 80940 chr17 33495236 33495236 G A rs140998171 UNC45B Synonymous SNV T436T 0.009 0.003 0 0 11 1 0 0 0 0 0 0 14.14 80941 chr5 102338811 102338811 A G rs35658696 PAM Nonsynonymous SNV D456G 0.027 0.016 0.014 10 32 6 0.026 4 1 0 0 0 31 80942 chr1 6528439 6528439 G A rs184541137 PLEKHG5 Synonymous SNV Y819Y 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.914 80943 chr5 90024591 90024591 A G rs747192045 ADGRV1 Nonsynonymous SNV I3423V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Uncertain significance 0.065 80944 chr17 67187447 67187447 C G ABCA10 Nonsynonymous SNV R627S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 80945 chr5 145610218 145610218 A C rs201811901 RBM27 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 80946 chr17 34073403 34073403 A G rs73990296 GAS2L2 Synonymous SNV S371S 0.011 0.013 0 2 13 5 0.005 0 0 0 0 0 2.749 80947 chr17 34185496 34185496 G A rs116758864 HEATR9 Nonsynonymous SNV H285Y 0.011 0.003 0 2 13 1 0.005 0 0 0 0 0 10.22 80948 chr5 176759170 176759170 C T rs150674852 LMAN2 Nonsynonymous SNV A330T 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign 23.1 80949 chr1 67705900 67705900 G A rs41313262 IL23R Nonsynonymous SNV V362I 0.022 0.016 0.02 4 26 6 0.01 6 0 0 0 0 0.243 80950 chr5 94826735 94826735 G C rs146627706 TTC37 Nonsynonymous SNV P1270A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.7 80951 chr1 70385625 70385625 C T rs3738121 PIN1P1 0 0 0.024 0 0 0 0 7 0 0 0 0 16.61 80952 chr6 37418098 37418098 C T rs377156702 CMTR1 Synonymous SNV S172S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.07 80953 chr5 112222740 112222740 T C REEP5 Synonymous SNV K164K 0.007 0.01 0 0 8 4 0 0 0 0 0 0 2.767 80954 chr5 149998114 149998114 G A rs367758165 SYNPO Nonsynonymous SNV S62N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.618 80955 chr1 75622741 75622741 C T rs34889650 LHX8 Nonsynonymous SNV A315V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 27 80956 chr5 96315371 96315371 G A rs147419734 LNPEP Synonymous SNV P183P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 8.427 80957 chr6 41708238 41708238 C T rs146769097 PGC Nonsynonymous SNV G253D 0.008 0.016 0.003 2 9 6 0.005 1 0 0 0 0 5.755 80958 chr6 40996173 40996173 G C rs742491 UNC5CL Nonsynonymous SNV P499R 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 19.3 80959 chr6 42072274 42072274 C T rs536844087 C6orf132 Nonsynonymous SNV A1126T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 80960 chr6 42072350 42072350 C T rs1040437107 C6orf132 Synonymous SNV E1100E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.03 80961 chr17 72699179 72699179 G A rs763772328 CD300LF Synonymous SNV D147D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.073 80962 chr6 100061478 100061478 G T PRDM13 Nonsynonymous SNV G323C 0.004 0.005 0 7 5 2 0.018 0 0 0 0 0 23.8 80963 chr5 150924968 150924968 A G rs150700679 FAT2 Nonsynonymous SNV I1907T 0.004 0.005 0.02 0 5 2 0 6 0 0 0 0 24.8 80964 chr17 38128866 38128866 C T rs772951155 GSDMA Nonsynonymous SNV L244F 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 9.284 80965 chr17 72888698 72888698 G A rs200303262 FADS6 Synonymous SNV L103L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 8.312 80966 chr6 106553096 106553096 G A rs143040512 PRDM1 Nonsynonymous SNV S220N 0.023 0.029 0.02 12 27 11 0.031 6 0 0 0 1 not provided 15.3 80967 chr5 150110239 150110239 T C rs35772018 DCTN4 Nonsynonymous SNV Y206C 0.009 0.008 0.02 7 11 3 0.018 6 0 0 0 0 24.2 80968 chr1 85136350 85136350 C T rs376196736 SSX2IP Synonymous SNV Q37Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 80969 chr5 150436517 150436517 G A rs2233289 TNIP1 Nonsynonymous SNV A93V 0.01 0.018 0.017 8 12 7 0.021 5 0 0 0 0 5.755 80970 chr5 1242879 1242879 C T rs145619230 SLC6A18 Synonymous SNV D344D 0.008 0.016 0.014 4 9 6 0.01 4 0 0 0 0 Benign 11.75 80971 chr5 151043017 151043018 TA - rs71757813 SPARC *342delinsDLSEYINGAKNENSNPRHDILSCNLTIKAFSTRINSPIFLLPFVALPIVLLAHGWTRICWALP* 0.013 0.013 0.007 3 15 5 0.008 2 0 0 0 0 80972 chr6 108645153 108645153 A G rs35045474 AFG1L Synonymous SNV L88L 0.013 0.013 0 5 15 5 0.013 0 0 0 0 1 8.146 80973 chr5 180630512 180630512 G C rs13357554 TRIM7 Nonsynonymous SNV D217E 0.016 0.018 0.01 7 19 7 0.018 3 0 0 0 0 1.127 80974 chr6 43581586 43581586 G A rs3734690 POLH Synonymous SNV T354T 0.027 0.049 0.048 15 32 19 0.038 14 1 0 1 0 Benign/Likely benign 11.66 80975 chr6 43582091 43582091 A T rs6941583 POLH Nonsynonymous SNV M523L 0.027 0.052 0.054 15 32 20 0.038 16 1 0 1 0 Benign 15.49 80976 chr6 43970504 43970509 GCGGCG - rs755059764 C6orf223 0.011 0.01 0.01 4 13 4 0.01 3 3 0 0 1 80977 chr17 73750847 73750847 G A rs3191773 ITGB4 Synonymous SNV S1433S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 10.96 80978 chr6 44232920 44232920 A G rs2233434 NFKBIE Nonsynonymous SNV V55A 0.026 0.013 0.027 11 30 5 0.028 8 0 0 0 0 0.076 80979 chr6 44232977 44232977 G A rs2233433 NFKBIE Nonsynonymous SNV P36L 0.026 0.013 0.024 11 30 5 0.028 7 0 0 0 0 9 80980 chr5 21752176 21752176 C T CDH12 Synonymous SNV E461E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.549 80981 chr17 73987590 73987590 G T rs11544990 TEN1 Nonsynonymous SNV A46S 0.013 0.01 0.017 10 15 4 0.026 5 0 0 0 0 21.2 80982 chr5 158596042 158596042 C T rs568537586 RNF145 Synonymous SNV T350T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.57 80983 chr17 74073094 74073094 G T rs61745847 GALR2 Nonsynonymous SNV W249L 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 Likely benign 33 80984 chr6 111685107 111685107 G A rs755842391 REV3L Synonymous SNV Y2276Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.19 80985 chr17 74154496 74154496 G A rs61751845 RNF157 Nonsynonymous SNV P464L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 9.609 80986 chr5 33441193 33441193 A G rs16891129 TARS1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 80987 chr17 74383108 74383108 G - rs549579958 SPHK1 R199Lfs*17 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 80988 chr17 74383109 74383109 T C rs138977514 SPHK1 Synonymous SNV R199R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.61 80989 chr1 89834252 89834252 C T rs150615430 GBP6 Nonsynonymous SNV R48C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 80990 chr6 112460365 112460365 C T rs41289902 LAMA4 Nonsynonymous SNV R1080Q 0.009 0.018 0.014 8 10 7 0.021 4 0 0 0 0 Benign 35 80991 chr17 74868887 74868887 C T rs191831149 MGAT5B Nonsynonymous SNV T19M 0.009 0.018 0.017 2 11 7 0.005 5 0 0 0 0 15.3 80992 chr5 15936570 15936570 G A FBXL7 Nonsynonymous SNV V204M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 80993 chr5 137781274 137781274 C T rs145269051 REEP2 Nonsynonymous SNV A228V 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 17.22 80994 chr6 47682212 47682212 G A rs115890838 ADGRF4 Nonsynonymous SNV V411I 0.018 0.013 0.027 11 21 5 0.028 8 0 0 0 0 0.017 80995 chr5 160042949 160042949 C T rs199654956 ATP10B Nonsynonymous SNV R850Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.914 80996 chr5 37006464 37006464 C T rs531615496 NIPBL Synonymous SNV N1287N 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 12.37 80997 chr5 37051975 37051975 C T NIPBL Nonsynonymous SNV A2350V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 80998 chr5 37187522 37187522 G A rs145018253 CPLANE1 Synonymous SNV I1358I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.29 80999 chr17 76521189 76521189 C T rs768564744 DNAH17 Nonsynonymous SNV G1256R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 24.8 81000 chr6 50791199 50791199 C G rs375917495 TFAP2B Nonsynonymous SNV A54G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 81001 chr5 169506011 169506011 C T rs150108225 DOCK2 Nonsynonymous SNV P1676L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 13.28 81002 chr1 94487404 94487404 C T rs113106943 ABCA4 Nonsynonymous SNV G1591R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 81003 chr5 16701796 16701796 A G rs112696559 MYO10 Nonsynonymous SNV M903T 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Benign 10.3 81004 chr5 39377259 39377259 C T rs61755342 DAB2 Nonsynonymous SNV V523I 0.01 0.008 0 0 12 3 0 0 0 0 0 0 Benign 0.107 81005 chr5 167645812 167645812 G A rs372775015 TENM2 Nonsynonymous SNV R1400H 0 0 0 1 0 0 0.003 0 0 0 0 0 27 81006 chr5 40691893 40691893 G A rs111866313 PTGER4 Nonsynonymous SNV V294I 0.014 0.01 0.014 5 16 4 0.013 4 0 0 0 0 Benign 0.901 81007 chr5 167675333 167675333 C T rs773509953 TENM2 Synonymous SNV N2224N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.97 81008 chr5 167835532 167835532 C T rs375518334 WWC1 Synonymous SNV D247D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.14 81009 chr6 52546620 52546620 C T rs35319285 TMEM14A Nonsynonymous SNV P27L 0.008 0 0.017 5 9 0 0.013 5 0 0 0 0 4.143 81010 chr5 176025757 176025757 T A rs146535631 GPRIN1 Nonsynonymous SNV N360I 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 21.9 81011 chr6 53989441 53989441 C T rs76743036 MLIP Synonymous SNV V130V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.85 81012 chr5 140182722 140182722 T C rs149374718 PCDHA3 Nonsynonymous SNV L647P 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 23.9 81013 chr5 176301463 176301463 G A rs146409898 UNC5A Nonsynonymous SNV R425H 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 32 81014 chr6 128330375 128330375 C T rs754334076 PTPRK Nonsynonymous SNV A616T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 81015 chr5 52397198 52397198 T C MOCS2 Nonsynonymous SNV H123R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.8 81016 chr6 56462644 56462644 G A rs768494219 DST Nonsynonymous SNV A1407V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 81017 chr5 176314206 176314206 T C rs61749651 HK3 Nonsynonymous SNV Q578R 0.02 0.034 0.024 5 24 13 0.013 7 0 0 0 0 22.3 81018 chr6 56966658 56966658 A G ZNF451 Nonsynonymous SNV T482A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 81019 chr6 65622405 65622405 G A rs192059823 EYS Synonymous SNV D871D 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.739 81020 chr6 70964180 70964180 G A rs746183818 COL9A1 Nonsynonymous SNV P330L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 81021 chr17 42451817 42451817 C T rs78165611 ITGA2B Nonsynonymous SNV A989T 0.01 0.01 0.003 3 12 4 0.008 1 0 0 0 0 Likely benign 14.09 81022 chr5 176931000 176931000 G C rs754987743 DOK3 Nonsynonymous SNV P436R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 81023 chr5 176935239 176935239 G A rs368466434 DOK3 Nonsynonymous SNV P124L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 81024 chr6 72809740 72809740 C G RIMS1 Nonsynonymous SNV N147K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 81025 chr20 17930836 17930836 T C rs146672356 SNX5 Nonsynonymous SNV Y139C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.2 81026 chr17 79632363 79632363 C T rs1128812 OXLD1 Synonymous SNV A104A 0.03 0.023 0.065 17 35 9 0.044 19 0 0 0 0 9.18 81027 chr6 72945350 72945350 G A rs77121218 RIMS1 Synonymous SNV E66E 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 Benign 10.23 81028 chr17 79639550 79639550 G A rs11546630 CCDC137 Nonsynonymous SNV R229Q 0.03 0.023 0.068 17 35 9 0.044 20 0 0 0 0 11.67 81029 chr17 79639708 79639708 C T rs11546631 CCDC137 Nonsynonymous SNV R282W 0.03 0.023 0.061 17 35 9 0.044 18 0 0 0 0 5.831 81030 chr20 18143315 18143315 A G rs148582987 KAT14 Nonsynonymous SNV Y466C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.9 81031 chr17 79662067 79662067 A G rs34384005 HGS Synonymous SNV E363E 0.038 0.047 0.092 22 45 18 0.056 27 0 1 1 0 1.758 81032 chr17 79663880 79663880 T C rs12951171 HGS Synonymous SNV G578G 0.038 0.047 0.088 22 45 18 0.056 26 0 1 1 0 0.084 81033 chr20 18361428 18361428 T A rs6136358 LINC00851 0 0 0.058 0 0 0 0 17 0 0 1 0 4.549 81034 chr17 79668135 79668135 G T rs56058441 HGS Nonsynonymous SNV A733S 0.038 0.047 0.092 22 45 18 0.056 27 0 1 1 0 0.001 81035 chr17 79668552 79668552 C T rs34897798 HGS Synonymous SNV G746G 0.035 0.049 0.088 22 41 19 0.056 26 0 1 1 0 12.94 81036 chr17 79671714 79671714 T C rs11546280 MRPL12 Nonsynonymous SNV S105P 0.038 0.047 0.092 22 45 18 0.056 27 0 1 1 0 Benign 3.142 81037 chr20 18446024 18446024 - TCTA rs771701870 DZANK1 0 0 0.003 0 0 0 0 1 0 0 0 0 81038 chr5 65350279 65350279 C T rs142496054 ERBIN Nonsynonymous SNV H1045Y 0.018 0.018 0.017 8 21 7 0.021 5 0 0 0 0 Benign 7.784 81039 chr17 79988316 79988316 C T rs201677781 LRRC45 Nonsynonymous SNV A597V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.403 81040 chr5 6600200 6600200 C T rs112951498 NSUN2 Nonsynonymous SNV V680I 0.011 0.005 0.01 6 13 2 0.015 3 0 0 0 0 Conflicting interpretations of pathogenicity 8.893 81041 chr5 178772259 178772259 - GCA rs568040559 ADAMTS2 L23_P24insL 0.024 0.016 0.014 11 28 6 0.028 4 2 2 0 1 81042 chr5 66458597 66458597 C T rs184920338 MAST4 Synonymous SNV S1055S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 14.18 81043 chr17 80050857 80050857 G A rs143618212 FASN Synonymous SNV L232L 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 7.835 81044 chr6 149777916 149777916 T C rs773662263 ZC3H12D Nonsynonymous SNV E189G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.9 81045 chr17 80274765 80274765 G A rs376533040 CD7 Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.892 81046 chr6 86257229 86257229 T G rs41271629 SNX14 Nonsynonymous SNV S259R 0.025 0.029 0.034 11 29 11 0.028 10 1 0 1 1 20.4 81047 chr6 150211071 150211071 C T rs61747261 RAET1E Nonsynonymous SNV R63Q 0.017 0.029 0.007 5 20 11 0.013 2 0 0 0 0 0.043 81048 chr20 2083467 2083467 G A rs372482538 STK35 Synonymous SNV E116E 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 8.16 81049 chr17 80915250 80915250 G A rs117451067 B3GNTL1 Synonymous SNV A104A 0.014 0.01 0.014 4 17 4 0.01 4 0 0 0 0 9.353 81050 chr5 21755944 21755944 T C rs151084481 CDH12 Synonymous SNV T323T 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 1.467 81051 chr5 2748986 2748986 G A rs375451332 IRX2 Nonsynonymous SNV P279L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.28 81052 chr17 48545458 48545458 G A rs997464775 CHAD Synonymous SNV F239F 0.006 0.003 0 0 7 1 0 0 0 0 0 0 9.283 81053 chr5 31294207 31294207 G A rs201394958 CDH6 Nonsynonymous SNV V123I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.84 81054 chr5 74011484 74011484 T C rs114661695 HEXB Synonymous SNV L351L 0.026 0.023 0.003 11 31 9 0.028 1 0 0 0 0 Benign/Likely benign 8.389 81055 chr5 149323777 149323777 G A PDE6A Nonsynonymous SNV P154S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.12 81056 chr6 90042897 90042897 T C rs144602788 UBE2J1 Nonsynonymous SNV I196V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.596 81057 chr6 90090024 90090024 A G rs16881819 RRAGD Synonymous SNV N169N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.235 81058 chr6 90399799 90399799 C T rs140978553 MDN1 Nonsynonymous SNV E3605K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 81059 chr5 31983263 31983263 A T rs146815907 PDZD2 Nonsynonymous SNV Y160F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 81060 chr6 90405631 90405631 C T rs142328599 MDN1 Nonsynonymous SNV R3155Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 81061 chr5 74491538 74491538 C T rs138165885 ANKRD31 Nonsynonymous SNV S312N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.78 81062 chr17 48650048 48650048 G A rs202055246 CACNA1G Nonsynonymous SNV G294S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 19.07 81063 chr5 32087286 32087286 C T rs146669014 PDZD2 Synonymous SNV A1244A 0.008 0.018 0 2 9 7 0.005 0 0 0 0 0 13.57 81064 chr6 90361970 90361970 G T MDN1 Nonsynonymous SNV Q5286K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.21 81065 chr6 152589270 152589270 T C SYNE1 Nonsynonymous SNV S6175G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.52 81066 chr5 150036119 150036119 A G rs41364946 SYNPO Nonsynonymous SNV M728V 0.02 0.008 0.003 9 23 3 0.023 1 0 0 0 0 15.8 81067 chr6 99858659 99858659 G A rs141275479 PNISR Synonymous SNV P153P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.954 81068 chr7 100033038 100033038 C T rs150742450 PPP1R35 Nonsynonymous SNV R236H 0 0.003 0 0 0 1 0 0 0 0 0 0 29 81069 chr18 9887582 9887582 C A rs141130127 TXNDC2 Nonsynonymous SNV P369H 0.009 0.01 0.02 6 11 4 0.015 6 0 0 0 0 23.7 81070 chr6 15520409 15520409 G C rs146690879 JARID2 Nonsynonymous SNV R1051T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Likely benign 25.8 81071 chr20 30818823 30818823 G A rs35968884 POFUT1 Nonsynonymous SNV E313K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 22.7 81072 chr7 100304745 100304745 G A rs145447976 POP7 Nonsynonymous SNV V98M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 81073 chr5 150901317 150901317 C T rs747669953 FAT2 Nonsynonymous SNV A3613T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.21 81074 chr20 31376689 31376689 C T rs373811098 DNMT3B Synonymous SNV L152L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.25 81075 chr7 100091317 100091317 C T rs200812129 NYAP1 Nonsynonymous SNV R773C 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 26.3 81076 chr7 100547265 100547265 G C rs139303233 MUC3A Synonymous SNV L3L 0.014 0.018 0.02 7 17 7 0.018 6 0 1 1 0 2.291 81077 chr20 31587911 31587913 CTC - SUN5 E103del 0 0 0.003 0 0 0 0 1 0 0 0 0 81078 chr7 100205597 100205597 C A rs141578594 PCOLCE Nonsynonymous SNV N407K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 81079 chr20 31647807 31647807 C T rs149445561 BPIFB3 Nonsynonymous SNV T166M 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 28.9 81080 chr5 151150080 151150080 G A rs374720494 LOC100652758 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.311 81081 chr5 42629168 42629168 C G rs76183160 GHR Synonymous SNV P33P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.78 81082 chr18 19024197 19024197 T C rs747779694 GREB1L Nonsynonymous SNV L407S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.1 81083 chr5 156378704 156378704 T G rs529704167 TIMD4 Synonymous SNV A166A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.538 81084 chr20 33037221 33037221 A G rs141828786 ITCH Synonymous SNV Q272Q 0.012 0.008 0.007 0 14 3 0 2 0 0 0 0 Benign 6.571 81085 chr20 33421797 33421797 T - rs200631461 HMGB3P1 0 0 0.051 0 0 0 0 15 0 0 0 0 81086 chr20 33637677 33637677 C T TRPC4AP Nonsynonymous SNV V217I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 81087 chr5 54603856 54603856 C T rs34518412 MTREX Synonymous SNV F5F 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 18.11 81088 chr20 33879734 33879734 G A rs747309529 FAM83C Nonsynonymous SNV P125L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 81089 chr20 34092171 34092171 C T rs41290926 CEP250 Nonsynonymous SNV R1360C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Likely benign 14.15 81090 chr5 56176622 56176622 A G MAP3K1 Synonymous SNV L724L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.205 81091 chr18 28654750 28654750 G A rs148185335 DSC2 Nonsynonymous SNV A596V 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 81092 chr18 29122618 29122618 G A rs79241126 DSG2 Nonsynonymous SNV E713K 0.042 0.052 0.031 15 49 20 0.038 9 1 1 1 0 Benign/Likely benign 11.71 81093 chr5 95255163 95255163 C A ELL2 Nonsynonymous SNV Q94H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 26.1 81094 chr6 16327915 16327915 - TGCTGCTGCTGCTGC ATXN1 Q208_H209insQQQQQ 0.012 0.026 0 12 14 10 0.031 0 0 0 0 1 81095 chr20 36952342 36952342 C T rs5741804 BPI Nonsynonymous SNV A276V 0.048 0.042 0.034 14 56 16 0.036 10 0 1 0 0 4.684 81096 chr5 96116854 96116854 A G rs80088786 ERAP1 Synonymous SNV F832F 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 8.708 81097 chr7 100551401 100551401 G A rs201895111 MUC3A Nonsynonymous SNV G661D 0.022 0.018 0.003 8 26 7 0.021 1 0 0 0 0 0.02 81098 chr5 168123311 168123311 G A rs139352083 SLIT3 Nonsynonymous SNV P1030L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 81099 chr20 37275733 37275733 A G ARHGAP40 Nonsynonymous SNV Q614R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 81100 chr5 56777634 56777634 A G rs769340165 ACTBL2 Nonsynonymous SNV S301P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 81101 chr5 68804987 68804987 C G rs147125035 OCLN Nonsynonymous SNV P24A 0.014 0.008 0.007 2 16 3 0.005 2 0 0 0 0 Benign 25.7 81102 chr6 167754983 167754983 C T rs754133120 TTLL2 Nonsynonymous SNV S532F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.417 81103 chr20 39802814 39802814 G T rs33917926 PLCG1 Synonymous SNV R1232R 0.014 0.003 0.017 4 17 1 0.01 5 0 0 0 0 2.336 81104 chr5 60628575 60628589 CGGCCGCAACCTCGG - rs541338051 ZSWIM6 T167_A171del 0.005 0 0.007 5 6 0 0.013 2 3 0 1 2 81105 chr20 39978998 39978998 G C rs61730990 LPIN3 Nonsynonymous SNV V356L 0.016 0.008 0.02 5 19 3 0.013 6 0 0 0 0 0.004 81106 chr6 168377063 168377063 G A rs778986412 HGC6.3 Synonymous SNV V90V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.338 81107 chr20 40112054 40112054 A G CHD6 Nonsynonymous SNV I788T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 81108 chr5 171305038 171305038 A G rs10475991 FBXW11 Synonymous SNV T261T 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 6.565 81109 chr20 4167976 4167976 C T rs759624547 SMOX Synonymous SNV H165H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 81110 chr5 98109712 98109712 A G rs10078777 RGMB Nonsynonymous SNV R21G 0.009 0.008 0.014 8 10 3 0.021 4 0 0 0 0 2.546 81111 chr5 171517362 171517362 G A rs17074311 STK10 Nonsynonymous SNV P520L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 16.15 81112 chr5 171544519 171544519 G A rs6895573 STK10 Synonymous SNV N162N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 12.65 81113 chr5 171766825 171766825 C G rs3812017 SH3PXD2B Synonymous SNV T428T 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 Benign 7.163 81114 chr5 173382975 173382975 T C rs982563539 CPEB4 Synonymous SNV C650C 0.003 0 0 0 4 0 0 0 0 0 0 0 0.038 81115 chr6 105609468 105609468 C T rs11961225 POPDC3 Nonsynonymous SNV R106Q 0.032 0.029 0.027 8 37 11 0.021 8 0 0 0 0 22.5 81116 chr5 74014661 74014661 G A rs768985989 HEXB Nonsynonymous SNV A428T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 81117 chr5 74059525 74059525 T C rs79992455 GFM2 Nonsynonymous SNV I15V 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign 0.002 81118 chr5 176074684 176074684 G C rs1017026597 TSPAN17 Nonsynonymous SNV G23A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 81119 chr7 100552193 100552193 C T rs543853775 MUC3A Nonsynonymous SNV S925F 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.32 81120 chr20 44444099 44444099 G C rs78668952 UBE2C Nonsynonymous SNV S67T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 1.571 81121 chr6 17779271 17779271 G A rs186161009 KIF13A Synonymous SNV N1320N 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 10.7 81122 chr6 109700808 109700808 G A rs201168621 CD164 Nonsynonymous SNV T78I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.4 81123 chr20 44879843 44879843 - CGG CDH22 P30_T31insP 0 0 0.003 0 0 0 0 1 0 0 0 0 81124 chr20 45355615 45355615 C T rs774586341 SLC2A10 Synonymous SNV L467L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 13.18 81125 chr7 100608754 100608754 G T rs200682970 MUC3A Synonymous SNV T1321T 0.003 0.013 0 3 4 5 0.008 0 0 0 0 0 7.962 81126 chr20 45816757 45816757 C T rs3818015 EYA2 Synonymous SNV H452H 0.007 0.008 0.014 0 8 3 0 4 0 0 0 0 16.9 81127 chr6 24653273 24653273 G C rs2294689 TDP2 Nonsynonymous SNV Q249E 0.031 0.049 0.041 18 36 19 0.046 12 0 2 0 1 13.66 81128 chr5 177577923 177577923 C T rs145890370 NHP2 Nonsynonymous SNV R101Q 0.016 0 0.003 3 19 0 0.008 1 0 0 0 0 Benign/Likely benign 22.3 81129 chr5 78338202 78338202 T C rs77116243 DMGDH Nonsynonymous SNV N366S 0.037 0.029 0.017 15 43 11 0.038 5 0 0 0 1 Benign 6.138 81130 chr20 48497476 48497476 G A SLC9A8 Nonsynonymous SNV G408S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 81131 chr7 100883135 100883135 C T rs183841255 FIS1 Synonymous SNV A137A 0.009 0.005 0.007 3 10 2 0.008 2 0 0 0 0 20.7 81132 chr6 116441822 116441822 T C COL10A1 Nonsynonymous SNV N486S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 81133 chr17 74097331 74097331 G A rs9895541 EXOC7 Synonymous SNV N146N 0.012 0.013 0.041 5 14 5 0.013 12 0 0 0 0 4.915 81134 chr6 26197072 26197072 G A H3C4 Nonsynonymous SNV A136V 0 0.005 0 3 0 2 0.008 0 0 0 0 0 26.4 81135 chr20 52773822 52773822 G A rs143523685 CYP24A1 Nonsynonymous SNV R415C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 81136 chr7 101921229 101921229 C G rs138450169 CUX1 Nonsynonymous SNV L509V 0.008 0.01 0 4 9 4 0.01 0 1 0 0 0 13.9 81137 chr5 179668043 179668043 G A rs529721305 MAPK9 Synonymous SNV A328A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.607 81138 chr20 55099974 55099977 AATA - rs775952021 FAM209A Q37Pfs*34 0.025 0.016 0.02 8 29 6 0.021 6 0 0 0 0 81139 chr20 55099978 55099978 - GTGT rs749426116 FAM209A Frameshift insertion G39Vfs*43 0.025 0.016 0.02 8 29 6 0.021 6 0 0 0 0 81140 chr5 180038336 180038336 G A rs140710164 FLT4 Synonymous SNV A1227A 0.003 0.003 0.02 4 4 1 0.01 6 0 0 0 0 Benign 10.8 81141 chr20 55108538 55108538 C T rs141117316 FAM209B Synonymous SNV N47N 0.019 0.008 0.02 2 22 3 0.005 6 0 0 0 0 2.135 81142 chr18 57103358 57103358 A G rs200656869 CCBE1 Nonsynonymous SNV F335L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 81143 chr20 55108587 55108587 T C rs755200614 FAM209B Synonymous SNV L64L 0 0 0.01 0 0 0 0 3 0 0 0 0 0.008 81144 chr20 55108589 55108589 G T rs781339391 FAM209B Nonsynonymous SNV L64F 0 0 0.01 0 0 0 0 3 0 0 0 0 3.455 81145 chr20 55750017 55750017 C G BMP7 Synonymous SNV L335L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 81146 chr20 55803330 55803330 G A rs760406190 BMP7 Nonsynonymous SNV T189M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 81147 chr20 56078637 56078637 C T rs145703489 CTCFL Synonymous SNV S303S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.97 81148 chr7 103767338 103767338 G A rs61756141 ORC5 Nonsynonymous SNV T422M 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 19.17 81149 chr5 79351772 79351772 G A rs773469442 THBS4 Nonsynonymous SNV V62I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.393 81150 chr7 1097383 1097383 G A rs780398748 GPR146 Nonsynonymous SNV A78T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.415 81151 chr6 127768521 127768521 A G rs542595275 KIAA0408 Synonymous SNV L315L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 81152 chr6 127768808 127768808 T C rs769550181 KIAA0408 Nonsynonymous SNV D219G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 81153 chr5 79733425 79733425 G A rs61739321 ZFYVE16 Synonymous SNV P307P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.254 81154 chr7 107745029 107745029 A G rs2074748 LAMB4 Synonymous SNV D302D 0.009 0.008 0.02 0 11 3 0 6 0 0 1 0 7.016 81155 chr5 1878596 1878596 G C rs201313799 IRX4 Synonymous SNV A349A 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 0.041 81156 chr7 107756510 107756510 A G rs35644375 LAMB4 Nonsynonymous SNV M44T 0.004 0.016 0.017 4 5 6 0.01 5 0 0 1 0 0.001 81157 chr6 3010298 3010298 A G rs28383623 NQO2 Nonsynonymous SNV K16R 0.009 0.013 0.01 8 10 5 0.021 3 0 0 0 0 0.031 81158 chr7 1097590 1097590 G A rs184553696 GPR146 Nonsynonymous SNV V147M 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23.2 81159 chr6 3017138 3017138 C T rs1130428 NQO2 Synonymous SNV S108S 0.009 0.013 0.01 8 10 5 0.021 3 0 0 0 0 11.26 81160 chr6 3019634 3019634 C T rs45445297 HTATSF1P2 0.011 0.013 0.01 8 13 5 0.021 3 0 0 0 0 9.092 81161 chr20 57767817 57767817 C T rs61743783 ZNF831 Synonymous SNV P581P 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Benign 10.45 81162 chr6 130467238 130467238 G A rs41285306 SAMD3 Nonsynonymous SNV T395I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 81163 chr5 31799371 31799371 G A rs116598198 PDZD2 Nonsynonymous SNV D6N 0.008 0.005 0.014 2 9 2 0.005 4 0 0 0 0 Benign 28 81164 chr7 119915118 119915118 C T rs150367628 KCND2 Synonymous SNV N144N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.964 81165 chr20 58514159 58514159 G A PPP1R3D Synonymous SNV S276S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.8 81166 chr5 82835852 82835852 C T rs61733401 VCAN Nonsynonymous SNV P1357S 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 5.149 81167 chr5 82836912 82836912 G A rs61733389 VCAN Nonsynonymous SNV R1710H 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 6.806 81168 chr5 82937538 82937538 T C rs6864342 HAPLN1 Nonsynonymous SNV N281S 0.004 0.003 0.017 1 5 1 0.003 5 0 0 0 0 0.001 81169 chr7 123516961 123516961 T G rs111907036 HYAL4 Nonsynonymous SNV L400V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 81170 chr6 132910545 132910545 C T rs201248908 TAAR5 Nonsynonymous SNV R94H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.8 81171 chr5 9380002 9380002 G A rs374141310 SEMA5A Synonymous SNV L19L 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 9.646 81172 chr20 5935832 5935832 A G rs116926921 MCM8 Nonsynonymous SNV I141V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 4.544 81173 chr7 123672954 123672954 C A TMEM229A Nonsynonymous SNV C35F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.383 81174 chr7 123673004 123673004 C T rs148474510 TMEM229A Synonymous SNV A18A 0.017 0.023 0.034 11 20 9 0.028 10 0 0 0 0 17.75 81175 chr20 5935875 5935875 G A rs58487183 MCM8 Nonsynonymous SNV C155Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 23.9 81176 chr20 60293669 60293669 G A rs944267 LOC100128310 0 0 0.041 0 0 0 0 12 0 0 0 0 3.478 81177 chr6 133035139 133035139 C A rs773178006 VNN1 Nonsynonymous SNV L12F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.054 81178 chr20 60294279 60294279 A G rs4925275 LOC100128310 0 0 0.207 0 0 0 0 61 0 0 9 0 3.368 81179 chr20 60294296 60294296 G A rs4925196 LOC100128310 0 0 0.044 0 0 0 0 13 0 0 0 0 3.831 81180 chr5 35691247 35691247 C T rs185000070 SPEF2 Nonsynonymous SNV P545S 0.011 0.005 0.003 6 13 2 0.015 1 0 0 0 0 Likely benign 23.4 81181 chr18 72998899 72998899 G A rs33930274 TSHZ1 Nonsynonymous SNV A513T 0.021 0.021 0.031 12 25 8 0.031 9 0 0 1 0 Benign 0.001 81182 chr20 60738615 60738615 G A rs145888791 SS18L1 Nonsynonymous SNV G220S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 81183 chr20 60775922 60775922 C T rs35693261 MTG2 Nonsynonymous SNV A337V 0.032 0.023 0.041 15 37 9 0.038 12 1 0 0 0 6.611 81184 chr6 36182049 36182049 T C rs764355221 BRPF3 Nonsynonymous SNV S959P 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 10.98 81185 chr5 94839540 94839540 C T rs781105946 TTC37 Synonymous SNV G1065G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.24 81186 chr18 76856499 76856499 C T rs181100780 ATP9B Nonsynonymous SNV A48V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 23.2 81187 chr5 36197729 36197729 C T rs79189380 NADK2 Synonymous SNV P368P 0.02 0.031 0.017 2 23 12 0.005 5 0 1 1 0 Benign 17.62 81188 chr5 37198881 37198881 G A rs374075447 CPLANE1 Nonsynonymous SNV R1199W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 81189 chr17 79093303 79093303 C T AATK Nonsynonymous SNV A1218T 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 10.78 81190 chr6 144219777 144219777 C T rs771611792 ZC2HC1B Synonymous SNV R146R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.81 81191 chr7 133692557 133692557 A G rs201940150 EXOC4 Nonsynonymous SNV M886V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 17.64 81192 chr6 107391213 107391213 C T rs3814072 BEND3 Synonymous SNV T394T 0.071 0.086 0.075 26 83 33 0.067 22 5 1 1 1 12.44 81193 chr17 80045373 80045373 C T FASN Synonymous SNV S1017S 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 11.49 81194 chr7 129919373 129919373 G A rs151137985 CPA2 Synonymous SNV V286V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.84 81195 chr20 61885459 61885459 G T rs34830843 FLJ16779 0 0 0.058 0 0 0 0 17 0 0 1 0 10.75 81196 chr7 130008354 130008354 G A rs781949565 CPA5 Nonsynonymous SNV R381Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.613 81197 chr6 41309618 41309618 G A rs34456049 NCR2 Nonsynonymous SNV G161R 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 0.236 81198 chr19 1010762 1010762 T C TMEM259 Nonsynonymous SNV N484D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 81199 chr7 131849898 131849898 G A rs886512467 PLXNA4 Nonsynonymous SNV L1450F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 81200 chr7 131853309 131853309 C T rs200800715 PLXNA4 Nonsynonymous SNV R1347H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 81201 chr5 52351876 52351876 A G rs3212523 ITGA2 Synonymous SNV A331A 0.032 0.021 0.099 9 37 8 0.023 29 4 2 4 2 Benign 8.96 81202 chr7 138522727 138522727 G A rs756109100 KIAA1549 Nonsynonymous SNV S1926F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 81203 chr7 134878125 134878125 T C rs142215859 WDR91 Nonsynonymous SNV N532S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.001 81204 chr6 109954264 109954264 T C rs139521783 AK9 Synonymous SNV L372L 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 1.396 81205 chr6 42562027 42562027 A T rs6905054 UBR2 Nonsynonymous SNV E172D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.07 81206 chr20 62290697 62290697 A C rs13043797 RTEL1-TNFRSF6B 0.015 0.008 0.017 9 18 3 0.023 5 0 0 0 0 4.347 81207 chr6 42619763 42619763 A G rs73424409 UBR2 Synonymous SNV A856A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.57 81208 chr7 138433937 138433937 G A rs58568563 ATP6V0A4 Synonymous SNV V385V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 6.098 81209 chr19 1828401 1828401 G A rs185543381 REXO1 Synonymous SNV P129P 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 0.976 81210 chr19 2222139 2222139 C T rs374841513 DOT1L Synonymous SNV L991L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.101 81211 chr6 117013474 117013474 G A rs141534226 KPNA5 Nonsynonymous SNV D87N 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 23.1 81212 chr19 2832479 2832479 A G rs368607233 ZNF554 Synonymous SNV Q144Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.135 81213 chr21 15671844 15671844 G A rs2822558 ABCC13 0 0 0.102 0 0 0 0 30 0 0 0 0 12.47 81214 chr5 6600155 6600155 T C rs140467698 NSUN2 Nonsynonymous SNV N695D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.004 81215 chr7 142649646 142649646 G A rs143217520 KEL Nonsynonymous SNV R385C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 81216 chr6 159654539 159654539 G A rs142239017 FNDC1 Nonsynonymous SNV G999S 0.011 0.008 0.024 6 13 3 0.015 7 0 0 0 0 Likely benign 21.3 81217 chr6 43968412 43968412 C T rs35703624 C6orf223, LOC101929705 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 5.072 81218 chr7 142562122 142562122 G A rs148373849 EPHB6 Synonymous SNV Q188Q 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 0.324 81219 chr7 142563278 142563278 C T rs35189999 EPHB6 Nonsynonymous SNV S40L 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 2.38 81220 chr7 143091974 143091974 T G EPHA1 Nonsynonymous SNV N760T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 81221 chr6 119669916 119669916 G C rs759204305 MAN1A1 Synonymous SNV R105R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.17 81222 chr5 70818150 70818150 C G rs12187098 BDP1 Nonsynonymous SNV Q1676E 0.047 0.031 0.034 26 55 12 0.067 10 2 2 1 2 Benign 7.434 81223 chr21 30925928 30925928 A G rs363504 GRIK1 Nonsynonymous SNV L902S 0.049 0.021 0.061 18 57 8 0.046 18 0 0 1 0 19.65 81224 chr5 70883366 70883366 C G rs750638270 MCCC2 Synonymous SNV G38G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 11.53 81225 chr6 121401996 121401996 T G rs56300302 TBC1D32 Nonsynonymous SNV E1232A 0.023 0.034 0.02 10 27 13 0.026 6 0 0 0 0 28.3 81226 chr6 121452897 121452897 G A rs150710532 TBC1D32 Synonymous SNV D925D 0.022 0.034 0.017 10 26 13 0.026 5 0 0 0 0 0.272 81227 chr18 11881002 11881002 C T rs41289504 GNAL Synonymous SNV A131A 0.016 0.018 0 5 19 7 0.013 0 0 0 0 0 Benign 15.87 81228 chr19 3781624 3781624 G A rs373382070 MATK Synonymous SNV I200I 0.017 0.005 0 3 20 2 0.008 0 0 0 0 0 11.24 81229 chr19 3831737 3831737 G A rs142686872 ZFR2 Synonymous SNV G173G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.677 81230 chr19 3977916 3977916 G A rs769162318 EEF2 Synonymous SNV G656G 0.02 0.005 0 4 23 2 0.01 0 0 0 0 0 8.018 81231 chr6 126319795 126319795 C T TRMT11 Nonsynonymous SNV P163S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 81232 chr6 128307002 128307002 G A rs766336327 PTPRK Nonsynonymous SNV R1038C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 81233 chr7 148526908 148526908 A G rs61732845 EZH2 Synonymous SNV P93P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 2.364 81234 chr6 129722400 129722400 G A rs373614496 LAMA2 Nonsynonymous SNV R1826Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.03 81235 chr7 149522930 149522930 T C rs1056343623 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 9.46 81236 chr7 1487278 1487278 G A rs146108745 MICALL2 Nonsynonymous SNV S153F 0.008 0.005 0.01 0 9 2 0 3 0 0 0 0 18.65 81237 chr6 49425446 49425446 T C rs138085432 MMUT Synonymous SNV P237P 0.015 0.029 0 14 18 11 0.036 0 0 0 0 0 Benign 4.58 81238 chr7 149495200 149495200 C T rs142784210 SSPO 0.017 0.013 0.003 2 20 5 0.005 1 0 0 0 0 6.858 81239 chr6 137166790 137166790 A C rs113268723 PEX7 Nonsynonymous SNV Q126P 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 81240 chr19 4512781 4512781 C T rs756283457 PLIN4 Nonsynonymous SNV M397I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.022 81241 chr19 4512847 4512847 G A rs61730743 PLIN4 Synonymous SNV T375T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.59 81242 chr6 51887720 51887720 C A rs200864129 PKHD1 Synonymous SNV V1753V 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.12 81243 chr21 38592924 38592924 G A rs73220508 DSCR9 0 0 0.061 0 0 0 0 18 0 0 2 0 6.402 81244 chr6 135611646 135611646 T C rs199578341 AHI1 Nonsynonymous SNV E1168G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.1 81245 chr21 39526603 39526603 C T DSCR8 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 81246 chr6 138893048 138893050 TCT - NHSL1 Star tloss M1? 0.004 0 0 1 5 0 0.003 0 0 0 0 0 81247 chr7 150034028 150034028 C T LRRC61 Synonymous SNV G26G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.05 81248 chr21 40250622 40250622 A C rs74672999 LOC400867 0 0 0.037 0 0 0 0 11 0 0 1 0 1.564 81249 chr6 142409668 142409668 C T rs372711016 NMBR Nonsynonymous SNV R43H 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 28.7 81250 chr7 150725595 150725595 G C rs113184419 ABCB8 Synonymous SNV P14P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 3.684 81251 chr6 138617958 138617958 T C rs760501288 ARFGEF3 Nonsynonymous SNV S1172P 0 0 0 1 0 0 0.003 0 0 0 0 0 23 81252 chr6 169646296 169646296 C T rs200969362 THBS2 Synonymous SNV Q230Q 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 9.178 81253 chr6 142399736 142399736 C T rs147317413 NMBR Nonsynonymous SNV A95T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.2 81254 chr21 40978010 40978010 T C rs508141 B3GALT5-AS1 0 0 0.105 0 0 0 0 31 0 0 3 0 0.942 81255 chr21 40984309 40984309 G C rs74789072 B3GALT5-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 3.567 81256 chr7 151135214 151135214 G A rs540628684 CRYGN Synonymous SNV S46S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 81257 chr19 6375402 6375402 C T rs771070520 PSPN Nonsynonymous SNV R125Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.44 81258 chr6 149285760 149285760 A G rs565518666 UST-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.674 81259 chr5 79733186 79733186 A G rs755323770 ZFYVE16 Nonsynonymous SNV K228E 0.015 0.008 0 5 18 3 0.013 0 0 0 0 0 0.002 81260 chr6 150390149 150390149 G C rs72501734 ULBP3 Stop gain Y18X 0.004 0.01 0.007 2 5 4 0.005 2 0 0 0 0 28.9 81261 chr7 151874109 151874109 T A rs779206480 KMT2C Nonsynonymous SNV H2810L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.445 81262 chr6 151243409 151243409 G A MTHFD1L Synonymous SNV L352L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.68 81263 chr21 43863475 43863475 T G rs148730063 UBASH3A Nonsynonymous SNV M524R 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 13.91 81264 chr5 89913740 89913740 C T rs61753944 ADGRV1 Synonymous SNV D109D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 16.8 81265 chr21 44839289 44839289 C T rs759414485 SIK1, SIK1B Nonsynonymous SNV V397M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 81266 chr7 158835860 158835860 G A rs534492909 VIPR2 Nonsynonymous SNV H139Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 81267 chr6 74104731 74104731 T C rs143091863 DDX43 Synonymous SNV L35L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.286 81268 chr6 153296472 153296472 T C rs41302051 FBXO5 Nonsynonymous SNV T84A 0.012 0.005 0.003 2 14 2 0.005 1 0 0 0 0 0.001 81269 chr7 20199532 20199532 G A rs35420793 MACC1 Nonsynonymous SNV A151V 0.009 0.013 0.01 1 11 5 0.003 3 1 0 0 0 0.002 81270 chr5 9063144 9063144 C T rs116183783 SEMA5A Synonymous SNV T791T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 18.07 81271 chr6 28053320 28053320 T C rs992908697 ZNF165 Nonsynonymous SNV I21T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.607 81272 chr7 158449369 158449369 G A rs61752310 NCAPG2 Nonsynonymous SNV R697W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 33 81273 chr7 21640338 21640338 G T rs72657303 DNAH11 Nonsynonymous SNV E1015D 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign/Likely benign 23.4 81274 chr6 155750038 155750038 C T rs1413752 NOX3 Synonymous SNV Q345Q 0.009 0.008 0.01 10 10 3 0.026 3 0 0 0 1 13.59 81275 chr6 32522473 32522473 C G rs71536531 HLA-DRB6 0.045 0.042 0.027 9 53 16 0.023 8 24 7 3 4 1.433 81276 chr19 8429323 8429323 G A rs116843064 ANGPTL4 Nonsynonymous SNV E40K 0.015 0.016 0 3 18 6 0.008 0 1 0 0 0 association 35 81277 chr7 1587440 1587440 G A rs61747419 TMEM184A Nonsynonymous SNV S317F 0.015 0.016 0.01 2 18 6 0.005 3 0 0 0 0 24.4 81278 chr6 158923870 158923870 G A rs143651023 TULP4 Nonsynonymous SNV A1059T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.001 81279 chr21 47316162 47316162 C T PCBP3 Synonymous SNV T17T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 81280 chr6 159653762 159653762 C T rs373757499 FNDC1 Nonsynonymous SNV L740F 0.009 0.016 0 4 11 6 0.01 0 0 0 0 0 13.17 81281 chr6 159460266 159460266 C T rs138830111 TAGAP Synonymous SNV K158K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.56 81282 chr6 80223085 80223085 C T rs765380305 LCA5 Synonymous SNV R188R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.11 81283 chr19 8841573 8841573 C T OR2Z1 Synonymous SNV F61F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 81284 chr6 159687142 159687142 G A rs374035084 FNDC1 Nonsynonymous SNV A1771T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.9 81285 chr6 84925536 84925536 T C rs144260749 CEP162 Nonsynonymous SNV S17G 0.011 0.021 0.007 14 13 8 0.036 2 0 0 0 0 24.2 81286 chr7 21657343 21657343 A G rs199629774 DNAH11 Nonsynonymous SNV Q1401R 0.003 0.01 0.017 2 3 4 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 81287 chr6 87953322 87953322 T G rs184839913 ZNF292 Nonsynonymous SNV C291G 0.002 0.013 0 4 2 5 0.01 0 0 0 0 0 26.3 81288 chr6 160509129 160509129 C T rs376030459 IGF2R Synonymous SNV S2090S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.3 81289 chr7 27135317 27135325 TGGTGGTGG - rs747464910 HOXA1 H70_H72del 0.004 0.013 0.003 1 5 5 0.003 1 0 0 0 0 81290 chr6 160501175 160501175 G A rs76130099 IGF2R Nonsynonymous SNV V1901I 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 8.612 81291 chr6 88372755 88372755 C G ORC3 Nonsynonymous SNV H433D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.9 81292 chr6 89790728 89790728 C T rs2231267 PNRC1 Nonsynonymous SNV P39S 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 26 81293 chr6 89975446 89975446 G A rs76786334 GABRR2 Nonsynonymous SNV R259C 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 34 81294 chr22 18978304 18978304 G A rs9604914 DGCR5 0 0 0.017 0 0 0 0 5 0 0 2 0 1.224 81295 chr6 90405571 90405571 T G rs148728196 MDN1 Nonsynonymous SNV H3175P 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Likely benign 11.97 81296 chr6 90660289 90660289 G C rs149586909 BACH2 Synonymous SNV P512P 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 4.353 81297 chr22 19209603 19209603 C T rs112636081 CLTCL1 Nonsynonymous SNV R811Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 33 81298 chr22 19710917 19710917 G A rs771530072 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 9.007 81299 chr6 36274148 36274148 T A rs45621032 PNPLA1 Stop gain Y402X 0.04 0.036 0.014 3 47 14 0.008 4 1 0 0 0 Benign/Likely benign 27.9 81300 chr6 166836792 166836792 G A rs147557165 RPS6KA2 Synonymous SNV N467N 0.004 0 0.003 6 5 0 0.015 1 0 0 0 1 Benign 12.12 81301 chr6 36334513 36334513 A C ETV7 Nonsynonymous SNV V161G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 81302 chr6 36652228 36652228 G A rs148679597 CDKN1A Nonsynonymous SNV C117Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 24.6 81303 chr22 20127026 20127026 C T rs149853704 ZDHHC8 Synonymous SNV D84D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.18 81304 chr7 33060942 33060942 C T rs772942875 NT5C3A Nonsynonymous SNV A95T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 81305 chr6 99894029 99894029 C T USP45 Nonsynonymous SNV G482D 0.006 0.008 0 7 7 3 0.018 0 0 0 0 0 1.315 81306 chr6 116422098 116422098 C T rs148112050 NT5DC1 Nonsynonymous SNV A2V 0.01 0.01 0.01 5 12 4 0.013 3 0 0 0 0 24 81307 chr6 168457899 168457899 C T rs113328475 FRMD1 Nonsynonymous SNV A442T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.043 81308 chr6 37138164 37138164 G C PIM1 Nonsynonymous SNV R29P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.15 81309 chr22 21104213 21104213 C T rs760530876 PI4KA Nonsynonymous SNV V1053I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 81310 chr22 21350076 21350076 G A LZTR1 Nonsynonymous SNV A662T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 81311 chr22 21350077 21350077 C A LZTR1 Nonsynonymous SNV A662E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 81312 chr6 169632189 169632189 C T rs958661800 THBS2 Synonymous SNV E679E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.23 81313 chr22 21363306 21363306 G A rs2075274 THAP7-AS1, TUBA3FP 0 0 0.293 0 0 0 0 86 0 0 16 0 3.561 81314 chr6 116879068 116879068 C T rs563930899 CALHM4 Synonymous SNV L213L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.53 81315 chr6 17608540 17608540 C T rs150157174 FAM8A1 Synonymous SNV T404T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.79 81316 chr7 38805251 38805251 T G VPS41 Nonsynonymous SNV K395Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 81317 chr7 4169665 4169665 G A rs61734776 SDK1 Synonymous SNV A1355A 0.035 0.034 0.061 13 41 13 0.033 18 0 1 2 1 14.41 81318 chr7 4169704 4169704 C T rs61734791 SDK1 Synonymous SNV L1368L 0.034 0.034 0.061 13 40 13 0.033 18 0 1 2 1 13.87 81319 chr7 30795456 30795456 C T rs76297889 INMT Nonsynonymous SNV P260S 0.016 0.018 0.007 4 19 7 0.01 2 0 0 0 0 0.552 81320 chr6 24454353 24454353 C T rs142006027 GPLD1 Nonsynonymous SNV G409S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 81321 chr22 24036155 24036155 G A rs145247246 RGL4 Synonymous SNV V302V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 4.017 81322 chr6 24781719 24781719 G C rs2307307 GMNN Nonsynonymous SNV L48F 0.006 0.008 0.02 3 7 3 0.008 6 0 0 0 0 11.76 81323 chr6 24781735 24781735 C T rs2307306 GMNN Nonsynonymous SNV R54W 0.006 0.008 0.02 3 7 3 0.008 6 0 0 0 0 9.691 81324 chr6 24797815 24797815 A T rs3813682 ARMH2 Nonsynonymous SNV F172L 0.006 0.008 0.02 3 7 3 0.008 6 0 0 0 0 23.9 81325 chr22 24383079 24383079 C T rs374769936 GSTT1 Nonsynonymous SNV G39R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.029 81326 chr6 42200436 42200436 G A rs144933700 TRERF1 Synonymous SNV P1107P 0.009 0.008 0.014 7 11 3 0.018 4 0 0 0 0 8.993 81327 chr22 24964062 24964062 C T rs201737361 SNRPD3 Synonymous SNV N79N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 81328 chr7 44804591 44804591 C G ZMIZ2 Nonsynonymous SNV I634M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 81329 chr7 44805066 44805066 C T rs202054913 ZMIZ2 Synonymous SNV H684H 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 16.18 81330 chr7 44806089 44806089 G A rs71548246 ZMIZ2 Nonsynonymous SNV G802R 0.012 0.021 0.014 5 14 8 0.013 4 0 0 0 0 20.8 81331 chr6 26093180 26093180 T C rs143175221 HFE Nonsynonymous SNV V115A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.089 81332 chr7 4056923 4056923 G A rs144372494 SDK1 Synonymous SNV A847A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.41 81333 chr22 26286738 26286738 T A rs33928909 MYO18B Nonsynonymous SNV S1445T 0.023 0.031 0.024 3 27 12 0.008 7 1 0 0 0 0.199 81334 chr19 621583 621583 G A rs374239154 POLRMT Synonymous SNV C705C 0.009 0.005 0.003 3 10 2 0.008 1 1 0 0 1 8.498 81335 chr22 26343771 26343771 A G MYO18B Nonsynonymous SNV K1910E 0 0 0.003 0 0 0 0 1 0 0 0 0 31 81336 chr6 130164721 130164721 T C rs140845293 TMEM244 Synonymous SNV P49P 0.005 0.005 0.007 0 6 2 0 2 0 1 0 0 0.921 81337 chr19 10088360 10088360 G A rs62638743 COL5A3 Synonymous SNV R1012R 0.019 0.005 0.017 5 22 2 0.013 5 0 0 0 0 7.913 81338 chr6 26384060 26384060 C T rs73736234 BTN2A2 Nonsynonymous SNV A4V 0.01 0.01 0.01 2 12 4 0.005 3 1 0 0 0 Benign 13.67 81339 chr6 26385263 26385263 C G rs57038103 BTN2A2 Nonsynonymous SNV P39A 0.01 0.01 0.01 2 12 4 0.005 3 1 0 0 0 Benign 21.9 81340 chr6 26392917 26392917 T A rs114760306 BTN2A2 Nonsynonymous SNV S222T 0.008 0.008 0.01 3 9 3 0.008 3 1 0 0 0 22.7 81341 chr6 26393161 26393161 A C rs73736249 BTN2A2 Nonsynonymous SNV K303T 0.009 0.01 0.01 2 11 4 0.005 3 1 0 0 0 Benign 0.006 81342 chr22 26951185 26951185 C G rs4822739 MIR548J 0 0 0.037 0 0 0 0 11 0 0 0 0 3.894 81343 chr6 26476380 26476380 C T rs76161919 LOC285819 0.015 0.016 0.024 5 18 6 0.013 7 1 0 1 0 4.575 81344 chr22 29659844 29659844 C - rs771571715 RHBDD3 G171Afs*41 0.004 0 0.01 0 5 0 0 3 0 0 0 0 81345 chr6 46656507 46656507 A G rs368937717 TDRD6 Synonymous SNV T214T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 81346 chr6 27107393 27107393 C T rs61742445 HIST1H4I Synonymous SNV G102G 0.008 0.008 0.017 3 9 3 0.008 5 1 0 0 0 Benign 15.85 81347 chr7 48146994 48146994 C T rs116578494 UPP1 Nonsynonymous SNV T91M 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 32 81348 chr6 46797098 46797098 G T MEP1A Nonsynonymous SNV G312C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 34 81349 chr19 10625505 10625505 G C S1PR5 Synonymous SNV L61L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.818 81350 chr6 27835226 27835226 C G rs149263970 H1-5 Nonsynonymous SNV A28P 0.008 0.008 0.01 2 9 3 0.005 3 1 0 0 0 0.002 81351 chr6 28264717 28264717 C T rs3800326 PGBD1 Nonsynonymous SNV P256L 0.017 0.021 0.027 6 20 8 0.015 8 1 0 0 0 0.152 81352 chr7 47342790 47342790 G A rs181932240 TNS3 Nonsynonymous SNV T1072M 0.015 0.013 0.007 2 18 5 0.005 2 0 0 0 0 Benign 20.7 81353 chr6 139206872 139206872 G A rs79865247 ECT2L Nonsynonymous SNV A722T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 81354 chr6 28294499 28294499 C T rs34223404 ZSCAN31 Nonsynonymous SNV R63Q 0.008 0.01 0.014 2 9 4 0.005 4 1 0 0 0 0.111 81355 chr22 31008867 31008867 T C rs35915865 TCN2 Nonsynonymous SNV F89L 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 Benign 0.003 81356 chr7 51092845 51092845 G A rs146319427 COBL Synonymous SNV D1196D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.69 81357 chr6 142691569 142691569 A C rs201621259 ADGRG6 Synonymous SNV A236A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Likely benign 0.008 81358 chr19 11470370 11470370 C G rs72992932 PLPPR2 Nonsynonymous SNV L52V 0.01 0.003 0.024 1 12 1 0.003 7 0 0 0 0 16.5 81359 chr19 11559921 11559921 C T rs200928002 PRKCSH Synonymous SNV H454H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 12.14 81360 chr19 11617073 11617073 C T rs35513404 ECSIT Nonsynonymous SNV E194K 0.026 0.021 0.007 9 30 8 0.023 2 0 0 0 0 15.7 81361 chr22 32665789 32665789 C T rs738202 SLC5A4-AS1 0 0 0.344 0 0 0 0 101 0 0 17 0 5.895 81362 chr7 100552607 100552607 C T rs769638209 MUC3A Nonsynonymous SNV P1063L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.7 81363 chr19 11978828 11978828 G T rs112352083 ZNF439 Nonsynonymous SNV R179I 0.024 0.023 0.024 8 28 9 0.021 7 0 0 0 0 3.566 81364 chr6 149771931 149771931 C G rs754716258 ZC3H12D Nonsynonymous SNV R491P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.531 81365 chr22 36684980 36684980 G A rs11549907 MYH9 Synonymous SNV H1521H 0.018 0.01 0.031 8 21 4 0.021 9 0 0 0 0 Benign 6.705 81366 chr22 36691691 36691691 T C rs875725 MYH9 Synonymous SNV E1115E 0.018 0.01 0.031 8 21 4 0.021 9 0 0 0 0 Benign 4.097 81367 chr19 12460783 12460783 G C rs117020952 ZNF442 Nonsynonymous SNV T470S 0.018 0.018 0.014 8 21 7 0.021 4 0 0 0 0 9.516 81368 chr6 34003928 34003928 C T rs34858760 GRM4 Synonymous SNV S537S 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Benign 13.64 81369 chr6 33653961 33653961 C T rs149221361 ITPR3 Synonymous SNV N1933N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.37 81370 chr19 1632059 1632059 T C rs141390047 TCF3 Synonymous SNV T92T 0.009 0.005 0.003 4 11 2 0.01 1 1 0 0 1 Likely benign 10.04 81371 chr19 12903059 12903059 C A rs2229510 JUNB Synonymous SNV S158S 0.019 0.018 0.014 5 22 7 0.013 4 0 0 0 0 13.41 81372 chr7 51133053 51133053 C T rs139438564 COBL Nonsynonymous SNV S397N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 3.458 81373 chr6 348849 348849 T C rs149644671 DUSP22 Synonymous SNV Y172Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.59 81374 chr6 34826612 34826612 C T rs61732794 UHRF1BP1 Nonsynonymous SNV R827C 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign 3.723 81375 chr7 100634307 100634307 C A rs571855490 MUC12 Nonsynonymous SNV R155S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 7.995 81376 chr19 1823760 1823760 C T rs186176871 REXO1 Nonsynonymous SNV A681T 0.004 0.005 0 3 5 2 0.008 0 1 0 0 1 11.44 81377 chr7 5372499 5372499 C T rs113405524 TNRC18 Synonymous SNV K1967K 0.019 0.029 0.007 10 22 11 0.026 2 0 0 0 0 15.41 81378 chr6 348917 348917 C T rs201957282 DUSP22 Nonsynonymous SNV P195L 0.011 0.008 0.007 3 13 3 0.008 2 0 0 0 0 9.538 81379 chr6 56483052 56483052 T C rs12209266 DST Nonsynonymous SNV H1927R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 0.023 81380 chr22 37603411 37603411 G A SSTR3 Synonymous SNV A144A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 81381 chr19 13397324 13397324 G A rs16029 CACNA1A Synonymous SNV V1183V 0.014 0.016 0.014 6 16 6 0.015 4 0 0 0 0 Benign 13.91 81382 chr19 1997438 1997438 G A rs144229360 BTBD2 Synonymous SNV A144A 0.009 0.005 0.007 4 10 2 0.01 2 1 0 0 1 15.08 81383 chr19 2116639 2116639 G A rs779953403 AP3D1 Nonsynonymous SNV R656W 0.008 0.005 0 3 9 2 0.008 0 1 0 0 1 25.8 81384 chr19 14574935 14574935 G A rs374591055 PKN1 Synonymous SNV S567S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 81385 chr7 6682605 6682605 C G rs532229402 ZNF316 Synonymous SNV A122A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.064 81386 chr19 14736326 14736326 C T rs117374816 ADGRE3 Nonsynonymous SNV G507D 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 21.7 81387 chr6 152545665 152545665 G A rs139078338 SYNE1 Synonymous SNV S7091S 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.5 81388 chr7 56006766 56006766 C T rs752350741 ZNF713 Synonymous SNV L120L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.492 81389 chr19 2733202 2733202 G A rs375336805 SLC39A3 Synonymous SNV R164R 0.007 0.005 0 3 8 2 0.008 0 0 0 0 1 0.106 81390 chr22 38341091 38341091 G A rs577420086 C22orf23 Stop gain R126X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 81391 chr22 38373886 38373886 C T SOX10 Nonsynonymous SNV E229K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 81392 chr7 100799988 100799988 C G rs148305541 AP1S1 Synonymous SNV V39V 0.01 0.005 0.003 1 12 2 0.003 1 0 0 0 0 Benign 11.21 81393 chr6 153323656 153323656 G C rs139411297 MTRF1L Synonymous SNV A55A 0.003 0.016 0.01 0 4 6 0 3 0 0 0 0 0.044 81394 chr7 100839291 100839291 T A rs139545520 MOGAT3 Nonsynonymous SNV Q321L 0.01 0.005 0.003 1 12 2 0.003 1 0 0 0 0 14.8 81395 chr22 40042720 40042720 C T rs61623451 CACNA1I Synonymous SNV G432G 0.009 0.003 0.014 2 10 1 0.005 4 0 0 1 0 12.79 81396 chr7 75192566 75192566 A G rs187769055 HIP1 Synonymous SNV L269L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.05 81397 chr19 3492372 3492372 C A rs373704209 DOHH Synonymous SNV G159G 0.014 0.013 0.007 7 17 5 0.018 2 0 0 0 0 13.95 81398 chr6 38790661 38790661 C G rs150925022 DNAH8 Nonsynonymous SNV P974A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.76 81399 chr19 15291560 15291560 G T NOTCH3 Nonsynonymous SNV P1025H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 81400 chr7 1027006 1027006 C T rs769250658 CYP2W1 Nonsynonymous SNV R328C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 81401 chr7 103969500 103969500 G A LHFPL3 Synonymous SNV R91R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.56 81402 chr6 38897372 38897372 A G rs77540135 DNAH8 Nonsynonymous SNV H3518R 0.016 0.005 0.01 7 19 2 0.018 3 0 0 0 0 Benign 18.19 81403 chr19 4053974 4053974 G A rs138413340 ZBTB7A Synonymous SNV F419F 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 7.915 81404 chr6 38899673 38899673 A G rs111791517 DNAH8 Synonymous SNV P3570P 0.016 0.005 0.01 8 19 2 0.021 3 0 0 0 0 Benign 0.27 81405 chr7 8181646 8181646 T C rs750103090 ICA1 Synonymous SNV S314S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.571 81406 chr7 73083889 73083889 C T rs61743139 VPS37D Synonymous SNV A93A 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 18.4 81407 chr19 4215989 4215989 T C rs186947505 ANKRD24 Synonymous SNV N404N 0.014 0.008 0.01 7 16 3 0.018 3 0 0 0 1 0.035 81408 chr6 83831730 83831730 C T rs76960445 DOP1A Nonsynonymous SNV T385I 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 9.707 81409 chr6 160176593 160176593 G A rs138607522 WTAP Nonsynonymous SNV V381I 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 10.89 81410 chr19 4446888 4446888 G A rs149610347 UBXN6 Synonymous SNV H162H 0.014 0.008 0.003 2 16 3 0.005 1 0 0 0 0 11.58 81411 chr6 41248752 41248752 A G rs2234240 TREM1 Synonymous SNV D182D 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 0.005 81412 chr7 76028057 76028057 G A rs73361545 SSC4D Nonsynonymous SNV T178M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.255 81413 chr7 117067416 117067416 C A rs201373907 ASZ1 Synonymous SNV T33T 0.003 0.01 0.003 7 4 4 0.018 1 0 0 0 0 15.37 81414 chr7 117254753 117254753 G C rs75541969 CFTR Nonsynonymous SNV D1152H 0.003 0.01 0.003 7 3 4 0.018 1 0 0 0 0 drug response 31 81415 chr7 117306991 117306991 C T rs1800135 CFTR Synonymous SNV Y1424Y 0.032 0.023 0.017 10 37 9 0.026 5 0 0 0 0 Benign/Likely benign 12.49 81416 chr19 17132902 17132902 G A rs186779378 CPAMD8 Nonsynonymous SNV T61M 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 0.198 81417 chr6 90337366 90337366 G A rs200093363 ANKRD6 Nonsynonymous SNV R420H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 32 81418 chr6 43006408 43006408 A G rs41274912 CUL7 Nonsynonymous SNV L1572P 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 81419 chr7 77379129 77379129 C G rs753327846 RSBN1L Synonymous SNV A364A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.02 81420 chr22 46403383 46403383 C T rs28685663 LOC730668 0 0 0.037 0 0 0 0 11 0 0 5 0 7.457 81421 chr22 46509402 46509402 A G rs4823513 MIRLET7BHG 0 0 0.306 0 0 0 0 90 0 0 45 0 0.939 81422 chr22 46685777 46685777 G A rs199616473 TTC38 Nonsynonymous SNV V433I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.08 81423 chr22 46765681 46765681 G C rs368486498 CELSR1 Nonsynonymous SNV P2594A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 81424 chr7 123302224 123302224 A T LMOD2 Nonsynonymous SNV N195I 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 25 81425 chr7 81695803 81695803 C G CACNA2D1 Nonsynonymous SNV K232N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29.2 81426 chr7 123336698 123336698 C T rs147511564 WASL Synonymous SNV K188K 0.001 0.01 0 3 1 4 0.008 0 0 0 0 0 15.41 81427 chr22 48020986 48020986 G A rs877528 LINC00898 0 0 0.187 0 0 0 0 55 0 0 16 0 5.325 81428 chr6 167435928 167435928 C T rs61751042 FGFR1OP Nonsynonymous SNV T157I 0.019 0.016 0.024 4 22 6 0.01 7 0 0 0 0 16.03 81429 chr6 167438276 167438276 G T rs17856382 FGFR1OP Nonsynonymous SNV K224N 0.019 0.016 0.024 4 22 6 0.01 7 0 0 0 0 3.876 81430 chr6 167438364 167438364 T C rs34585172 FGFR1OP Nonsynonymous SNV S254P 0.019 0.016 0.024 4 22 6 0.01 7 0 0 0 0 5.859 81431 chr7 123672875 123672875 C T rs759879833 TMEM229A Synonymous SNV G61G 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 15.83 81432 chr19 17547493 17547493 C T rs949510720 TMEM221 Nonsynonymous SNV R217Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.915 81433 chr6 167753675 167753675 C T rs145779681 TTLL2 Nonsynonymous SNV P96L 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 25 81434 chr7 87150189 87150189 C T rs147487745 ABCB1 Nonsynonymous SNV A897T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.9 81435 chr6 43305015 43305015 A C rs753498583 ZNF318 Nonsynonymous SNV S2241A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.024 81436 chr19 17735631 17735631 G A rs148883310 UNC13A 0.029 0.029 0.041 13 34 11 0.033 12 0 0 0 1 12.41 81437 chr6 43307265 43307265 C T rs774742513 ZNF318 Nonsynonymous SNV V1491M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.04 81438 chr7 87180088 87180088 C T rs777570345 ABCB1 Nonsynonymous SNV A356T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.9 81439 chr6 17764896 17764896 G C rs41267712 KIF13A Nonsynonymous SNV D1573E 0.01 0.018 0.01 10 12 7 0.026 3 0 0 0 1 Benign 23.9 81440 chr7 131194166 131194166 G A rs187786761 PODXL Synonymous SNV Y295Y 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 1.858 81441 chr8 100874030 100874030 G A rs142476821 VPS13B Nonsynonymous SNV A3716T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 81442 chr7 132169720 132169720 T G rs17852615 PLXNA4 Nonsynonymous SNV E475A 0.005 0.01 0.02 4 6 4 0.01 6 0 0 0 0 5.463 81443 chr7 132169749 132169749 C G rs17852614 PLXNA4 Synonymous SNV G465G 0.005 0.01 0.02 4 6 4 0.01 6 0 0 0 0 3.095 81444 chr7 133868568 133868568 C T rs76794740 LRGUK Nonsynonymous SNV R433C 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 35 81445 chr7 100549862 100549862 C T rs781659697 MUC3A Nonsynonymous SNV T148M 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 22.2 81446 chr6 51944754 51944754 C T rs149841071 PKHD1 Nonsynonymous SNV G112R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.52 81447 chr2 101924930 101924930 C - RNF149 V41Wfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 81448 chr6 25491967 25491967 A G CARMIL1 Nonsynonymous SNV Y358C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 81449 chr8 104342219 104342219 C T rs146169987 FZD6 Synonymous SNV S321S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.804 81450 chr7 135368958 135368958 A T rs150865642 SLC13A4 Nonsynonymous SNV C554S 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 11.27 81451 chr6 25966811 25966811 A G rs138171902 TRIM38 Nonsynonymous SNV S21G 0.003 0 0 0 4 0 0 0 0 0 0 0 0.595 81452 chr6 55039414 55039414 C A rs764654208 HCRTR2 Nonsynonymous SNV P10H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 81453 chr7 138341219 138341219 G A rs117871806 SVOPL Stop gain R18X 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 Likely benign 38 81454 chr6 55120108 55120108 T A rs41381449 HCRTR2 Nonsynonymous SNV C193S 0.003 0.008 0.003 5 4 3 0.013 1 0 0 0 0 1.332 81455 chr6 49668450 49668450 C A rs887933992 CRISP2 Nonsynonymous SNV R38S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 81456 chr7 95751221 95751221 G A rs150082469 SLC25A13 Synonymous SNV S561S 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 13.47 81457 chr7 99688952 99688952 G A rs145902681 COPS6 Synonymous SNV A247A 0.011 0.003 0.003 3 13 1 0.008 1 0 0 0 0 9.097 81458 chr6 52702355 52702355 C T rs144035273 GSTA5 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 81459 chr2 113783743 113783743 T C rs138440701 IL36B Nonsynonymous SNV I110V 0.016 0.021 0.027 14 19 8 0.036 8 0 0 0 0 3.083 81460 chr7 141255283 141255283 A G rs148294392 AGK Nonsynonymous SNV K6R 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 Benign/Likely benign 12.15 81461 chr2 1168790 1168790 C T rs778359524 SNTG2 Nonsynonymous SNV P171L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 81462 chr2 11725294 11725294 G A rs144245281 GREB1 Synonymous SNV L303L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.586 81463 chr19 17397475 17397475 - TGTGTT rs769320278 ANKLE1 V583_C584insFV 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 81464 chr6 55216092 55216092 T A GFRAL Nonsynonymous SNV C138S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 81465 chr6 56358810 56358810 T C rs560268832 DST Nonsynonymous SNV K4175E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.6 81466 chr6 33638570 33638572 AGA - ITPR3 K856del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 81467 chr7 142723727 142723727 G A rs143573729 OR9A2 Nonsynonymous SNV R165C 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 6.095 81468 chr6 74161762 74161762 G T rs35629782 CGAS Nonsynonymous SNV A48E 0.047 0.049 0.058 29 55 19 0.074 17 2 0 1 3 11.92 81469 chr2 120413960 120413960 C T rs138432794 CFAP221 Nonsynonymous SNV P813S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 81470 chr6 74446225 74446225 A T rs776870550 CD109 Nonsynonymous SNV Q132H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 81471 chr7 143080337 143080337 C T rs41277422 ZYX Synonymous SNV T284T 0.02 0.018 0.007 3 23 7 0.008 2 0 0 0 0 13.21 81472 chr6 66112410 66112410 T A rs144935927 EYS Nonsynonymous SNV N382I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.66 81473 chr6 34511952 34511952 G A rs372475042 SPDEF Nonsynonymous SNV P94L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 32 81474 chr2 121742124 121742124 G A rs61732852 GLI2 Synonymous SNV T587T 0.016 0.01 0.02 4 19 4 0.01 6 0 0 0 0 Benign/Likely benign 14.64 81475 chr6 70851789 70851789 A G rs13204209 COL19A1 Nonsynonymous SNV E496G 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 23.9 81476 chr19 34002049 34002049 G C rs201752816 PEPD Nonsynonymous SNV H72D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 81477 chr2 128918769 128918769 G A rs113995539 UGGT1 Nonsynonymous SNV E918K 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 27.2 81478 chr7 149485449 149485449 C - SSPO 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 81479 chr6 36294531 36294531 C T rs199983008 BNIP5 0.003 0 0 0 4 0 0 0 0 0 0 0 10.03 81480 chr6 80197522 80197522 T C LCA5 Synonymous SNV E431E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 81481 chr7 149519165 149519165 C T rs201347611 SSPO 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 6.766 81482 chr7 150027763 150027763 A G rs3800782 ZBED6CL Synonymous SNV P90P 0.02 0.016 0.003 8 24 6 0.021 1 0 0 0 0 0.553 81483 chr7 150028098 150028098 A G rs76490935 ZBED6CL Nonsynonymous SNV E202G 0.016 0.016 0.003 8 19 6 0.021 1 0 0 0 0 24.4 81484 chr7 150028158 150028158 C - rs3839683 ZBED6CL W223Gfs*101 0.017 0.016 0.003 8 20 6 0.021 1 0 0 0 0 81485 chr7 150033965 150033965 G A rs200165365 LRRC61 Synonymous SNV A5A 0.009 0.01 0 4 11 4 0.01 0 0 0 0 0 4.891 81486 chr6 87967024 87967024 T A rs771975381 ZNF292 Nonsynonymous SNV M1226K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.17 81487 chr8 11666219 11666230 TCCCACTCCCAC - FDFT1 H74_S77del 0.01 0.005 0.007 0 12 2 0 2 0 0 1 0 81488 chr6 7585796 7585796 C G rs145362059 DSP Synonymous SNV T2168T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.68 81489 chr8 11666225 11666230 TCCCAC - FDFT1 H76_S77del 0.009 0.005 0 0 10 2 0 0 0 0 0 0 81490 chr19 36221258 36221258 G A rs374963939 KMT2B Nonsynonymous SNV D1698N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 81491 chr2 141625828 141625828 G T rs200955532 LRP1B Nonsynonymous SNV L1392I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 81492 chr6 80223368 80223368 C T rs34531407 LCA5 Nonsynonymous SNV R94Q 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 Uncertain significance 13.53 81493 chr6 90398355 90398355 T C rs370754296 MDN1 Synonymous SNV Q3732Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.114 81494 chr7 151814265 151814265 T C rs776683394 GALNT11 Synonymous SNV P338P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.674 81495 chr7 15405822 15405824 AGA - rs773539256 AGMO L367del 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 81496 chr2 152359308 152359308 G A rs202137113 NEB Nonsynonymous SNV S6275L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 81497 chr2 152484315 152484315 C T rs75639119 NEB Nonsynonymous SNV G3046S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 81498 chr19 30102826 30102826 C A POP4 Stop gain C114X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 81499 chr7 104782648 104782648 T C rs56003957 SRPK2 Synonymous SNV P439P 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Benign 3.482 81500 chr6 89967489 89967489 C T rs61739705 GABRR2 Nonsynonymous SNV R433H 0.016 0.018 0.003 11 19 7 0.028 1 0 0 0 0 Likely benign 19.54 81501 chr19 37488341 37488341 A G rs866296086 ZNF568 Nonsynonymous SNV K519R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 81502 chr8 125384177 125384177 G A rs760543032 TMEM65 Synonymous SNV D74D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.72 81503 chr7 107626756 107626756 G C rs140146478 LAMB1 Nonsynonymous SNV T159S 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 81504 chr8 143425493 143425493 G A rs143794875 TSNARE1 Synonymous SNV A193A 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 10.77 81505 chr7 158889724 158889724 G A rs558631885 VIPR2 Synonymous SNV S37S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 0.398 81506 chr6 42797039 42797039 A G BICRAL Nonsynonymous SNV Q323R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.9 81507 chr6 43487126 43487126 T G rs945977296 POLR1C Nonsynonymous SNV V66G 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 28.9 81508 chr6 44093817 44093817 C T MRPL14 Nonsynonymous SNV C5Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.418 81509 chr6 44227810 44227810 C T rs11553589 NFKBIE Synonymous SNV E330E 0.011 0.005 0.007 9 13 2 0.023 2 0 0 0 0 15.61 81510 chr2 160708756 160708756 C G rs139909222 LY75, LY75-CD302 Nonsynonymous SNV A947P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.6 81511 chr6 97613166 97613166 A G rs139213829 MMS22L Synonymous SNV I776I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.471 81512 chr8 144332046 144332046 G A rs144557681 ZFP41 Synonymous SNV T11T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.612 81513 chr7 120969412 120969412 G C rs35391640 WNT16 Synonymous SNV L22L 0.016 0.021 0.007 8 19 8 0.021 2 1 0 0 0 10.66 81514 chr7 100283024 100283024 A C rs768018767 GIGYF1 Nonsynonymous SNV W379G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 81515 chr6 46658915 46658915 G A rs140575009 TDRD6 Nonsynonymous SNV C1017Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 81516 chr2 165551922 165551922 T C rs149530470 COBLL1 Synonymous SNV Q660Q 0.003 0.003 0.02 1 3 1 0.003 6 0 0 0 0 0.045 81517 chr7 100420010 100420010 G A rs147563837 EPHB4 Nonsynonymous SNV P231S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.012 81518 chr8 134203411 134203411 G T rs147864416 CCN4 Synonymous SNV T8T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.049 81519 chr2 166848367 166848367 C T rs140237315 SCN1A Synonymous SNV E1806E 0.023 0.026 0.034 7 27 10 0.018 10 0 0 0 0 Benign/Likely benign 10.01 81520 chr6 47846603 47846603 C T rs41273690 PTCHD4 Synonymous SNV V659V 0.03 0.01 0.048 8 35 4 0.021 14 1 0 0 1 8.124 81521 chr7 2645522 2645522 C T rs112274087 IQCE Nonsynonymous SNV P521S 0.01 0.021 0.014 1 12 8 0.003 4 0 0 0 0 Likely benign 15.75 81522 chr19 39406264 39406264 - CCAGGCAGC rs551671819 SARS2 G513_Q514insLPG 0.005 0.005 0.01 1 6 2 0.003 3 0 0 1 0 81523 chr2 169681151 169681151 C T rs3732031 NOSTRIN Synonymous SNV L41L 0.017 0.01 0.024 12 20 4 0.031 7 0 0 0 1 13.31 81524 chr19 39914644 39914644 G A rs34350479 PLEKHG2 Synonymous SNV K898K 0.072 0.083 0.054 23 84 32 0.059 16 2 3 2 2 8.982 81525 chr7 27239080 27239080 A T rs762127396 HOXA13 Nonsynonymous SNV F206Y 0.009 0.018 0 7 11 7 0.018 0 0 1 0 0 14.33 81526 chr8 144810680 144810680 T C rs372370198 FAM83H Synonymous SNV P317P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.018 81527 chr7 127955045 127955045 C T rs140616619 RBM28 Nonsynonymous SNV G465D 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 10.13 81528 chr7 30695278 30695278 A G rs373659532 CRHR2 Nonsynonymous SNV M323T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 81529 chr6 5369142 5369142 C T rs41302853 FARS2 Synonymous SNV Y113Y 0.01 0.005 0.007 3 12 2 0.008 2 0 0 0 0 Benign 2.374 81530 chr2 176973732 176973732 A G rs78492630 HOXD11 Synonymous SNV K293K 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Benign 10.44 81531 chr2 177053298 177053298 G C rs71421551 HAGLR 0 0 0.061 0 0 0 0 18 0 0 5 0 9.605 81532 chr2 177053718 177053718 T C rs988180784 HOXD1 Synonymous SNV P63P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.458 81533 chr7 32623435 32623435 A G AVL9 Synonymous SNV A621A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.04 81534 chr8 144461131 144461131 G A rs768006772 RHPN1 Nonsynonymous SNV E212K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 81535 chr7 132192892 132192892 C T rs772947706 PLXNA4 Synonymous SNV T187T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 81536 chr6 6167833 6167833 A T rs5983 F13A1 Nonsynonymous SNV L589Q 0.009 0 0 1 10 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 81537 chr6 64394838 64394838 G A rs764463727 PHF3 Synonymous SNV A317A 0.012 0.008 0 0 14 3 0 0 1 0 0 0 0.191 81538 chr6 64776232 64776232 G A EYS Nonsynonymous SNV R2242C 0.012 0.008 0 0 14 3 0 0 1 0 0 0 Uncertain significance 25.2 81539 chr7 134880949 134880949 A G rs143418650 WDR91 Synonymous SNV I397I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 8.883 81540 chr19 42795309 42795309 G A rs587778200 CIC Nonsynonymous SNV G797S 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 4.676 81541 chr19 42796833 42796833 T C rs142078348 CIC Synonymous SNV S1097S 0.021 0.018 0 4 25 7 0.01 0 0 0 0 0 Benign 0.641 81542 chr19 42814809 42814809 C G rs1055512 PRR19 Nonsynonymous SNV P330A 0.023 0.018 0 4 27 7 0.01 0 1 0 0 0 0.047 81543 chr2 179456603 179456603 G T rs202017608 TTN Synonymous SNV P10916P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 0.436 81544 chr19 42861084 42861084 G A rs141153248 MEGF8 Nonsynonymous SNV R1527H 0.021 0.018 0 4 25 7 0.01 0 0 0 0 0 Benign 24.5 81545 chr7 39611998 39611998 C T rs148011819 YAE1 Nonsynonymous SNV T125I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.11 81546 chr19 42989306 42989306 C T rs567022341 LIPE-AS1 0.021 0.018 0 3 25 7 0.008 0 0 0 0 0 4.91 81547 chr6 73110390 73110390 A G rs200035429 RIMS1 Nonsynonymous SNV T212A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Uncertain significance 17.42 81548 chr8 145166390 145166390 G A rs180855846 WDR97 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 81549 chr6 73951389 73951389 T C rs201194392 KHDC1 Nonsynonymous SNV I120V 0.01 0.003 0 1 12 1 0.003 0 0 0 0 0 0.002 81550 chr6 74138502 74138502 C T rs370272118 CGAS Nonsynonymous SNV E383K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 81551 chr7 44184848 44184848 T G rs140672134 GCK Synonymous SNV R92R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 9.051 81552 chr7 100887319 100887319 A G rs148532612 FIS1 Synonymous SNV D49D 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 9.986 81553 chr6 76631823 76631823 C T rs76604824 IMPG1 Nonsynonymous SNV D715N 0.018 0.013 0.024 7 21 5 0.018 7 0 0 0 0 24.2 81554 chr7 45009650 45009650 T C rs199914832 MYO1G Nonsynonymous SNV T441A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.07 81555 chr6 79711830 79711830 C T PHIP Synonymous SNV Q555Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.765 81556 chr19 44610476 44610476 G T rs144679841 LOC100379224 0.026 0.031 0 12 31 12 0.031 0 0 0 0 0 0.654 81557 chr6 83838973 83838973 A G rs72903885 DOP1A Nonsynonymous SNV N687S 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 0.001 81558 chr7 45128475 45128475 G A rs192600763 NACAD Nonsynonymous SNV R7C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 81559 chr2 186656350 186656352 GTG - rs748959283 FSIP2 G1497del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 81560 chr7 143091417 143091417 C T rs139711610 EPHA1 Nonsynonymous SNV R791H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 81561 chr2 189927594 189927594 C T rs775123157 COL5A2 Synonymous SNV P658P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 81562 chr7 102669096 102669096 T C rs766269586 FBXL13 Synonymous SNV V56V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.868 81563 chr7 103808934 103808934 C T rs374264769 ORC5 Synonymous SNV P288P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.469 81564 chr19 17837969 17837969 C T MAP1S Synonymous SNV S566S 0.02 0.01 0 5 23 4 0.013 0 1 0 0 0 9.578 81565 chr7 144097225 144097225 C G rs193303103 NOBOX Nonsynonymous SNV S342T 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 0.054 81566 chr2 191235724 191235724 A G rs753321087 INPP1 Nonsynonymous SNV T266A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.564 81567 chr19 17943383 17943383 G A rs2230589 JAK3 Synonymous SNV L875L 0.028 0.047 0.024 17 33 18 0.044 7 1 0 0 1 Benign 8.516 81568 chr19 45465224 45465224 C T CLPTM1 Nonsynonymous SNV T12I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 81569 chr7 107432279 107432279 G A rs142349142 SLC26A3 Synonymous SNV S126S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.14 81570 chr2 196689047 196689047 G A rs368032669 DNAH7 Nonsynonymous SNV P3075S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 81571 chr8 145738604 145738604 G A rs202078917 RECQL4 Synonymous SNV P820P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 8.168 81572 chr7 149476726 149476726 C T rs569866191 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 17.6 81573 chr7 117879968 117879968 T C rs189882379 ANKRD7 Nonsynonymous SNV Y240H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 81574 chr2 197872574 197872574 C T rs61752170 ANKRD44 Nonsynonymous SNV V696I 0.011 0.01 0.044 9 13 4 0.023 13 0 0 0 0 22.8 81575 chr7 1131899 1131899 G A rs768049762 GPER1 Nonsynonymous SNV G179S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.6 81576 chr7 100075459 100075459 G A rs777247706 TSC22D4 Nonsynonymous SNV P68L 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 81577 chr7 100238401 100238401 G T rs145795884 TFR2 Nonsynonymous SNV D127E 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.001 81578 chr7 100320627 100320627 G A rs78925197 EPO Synonymous SNV A151A 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 6.979 81579 chr7 12397130 12397130 G C rs200134838 VWDE Nonsynonymous SNV P981A 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 24 81580 chr7 150034279 150034279 C A rs757569479 LRRC61 Nonsynonymous SNV A110D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.912 81581 chr8 17169085 17169085 C T rs140535945 MTMR7 Nonsynonymous SNV A346T 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 33 81582 chr7 150389422 150389422 A G rs139352851 GIMAP2 Synonymous SNV Q16Q 0.014 0.008 0.003 7 16 3 0.018 1 0 0 0 0 0.358 81583 chr2 202622481 202622481 G C rs190369242 ALS2 Nonsynonymous SNV P372R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.35 81584 chr19 18700259 18700259 G A rs748435374 REX1BD Synonymous SNV G73G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 5.668 81585 chr7 126086302 126086302 C A GRM8 Nonsynonymous SNV R647L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 81586 chr19 19006648 19006648 A G rs113536478 CERS1 Synonymous SNV T78T 0.01 0.008 0.024 9 12 3 0.023 7 4 0 2 3 Benign 6.468 81587 chr8 17867185 17867185 A T rs34243861 PCM1 Nonsynonymous SNV I1635L 0.028 0.029 0.048 9 33 11 0.023 14 0 1 0 1 4.748 81588 chr7 64167883 64167883 A G rs61739519 ZNF107 Nonsynonymous SNV N438D 0.005 0.01 0.007 4 6 4 0.01 2 0 0 0 0 Likely benign 7.853 81589 chr19 19654088 19654088 G C rs150065892 CILP2 Nonsynonymous SNV A337P 0.007 0.003 0 0 8 1 0 0 0 0 0 0 4.642 81590 chr2 206920990 206920990 C T rs144619437 INO80D Nonsynonymous SNV R299Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.1 81591 chr7 128485241 128485241 G A rs370520806 FLNC Nonsynonymous SNV R1241H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 21.9 81592 chr2 207172780 207172780 A G ZDBF2 Synonymous SNV Q1176Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 81593 chr2 207308700 207308700 C T rs756280188 ADAM23 Nonsynonymous SNV A37V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 81594 chr8 1857591 1857591 G A rs2294039 ARHGEF10 Nonsynonymous SNV V662I 0.043 0.034 0.027 11 50 13 0.028 8 1 0 0 0 Benign 1.863 81595 chr2 207528039 207528039 C T rs143345015 DYTN Synonymous SNV K407K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 81596 chr8 18656832 18656832 C G rs750869677 PSD3 Nonsynonymous SNV M151I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.1 81597 chr7 150841011 150841011 G A rs117071005 AGAP3 Nonsynonymous SNV R575H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 81598 chr8 24333946 24333946 T C rs1005068187 ADAM7 Nonsynonymous SNV Y212H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 81599 chr19 48601512 48601512 G A rs11564538 PLA2G4C Nonsynonymous SNV P161L 0.048 0.034 0.051 13 56 13 0.033 15 2 0 0 0 1.973 81600 chr7 128035003 128035003 C T rs765746859 IMPDH1 Nonsynonymous SNV R387Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 34 81601 chr8 1998943 1998943 T G MYOM2 Synonymous SNV R21R 0.004 0 0 0 5 0 0 0 0 0 0 0 0.029 81602 chr19 48602951 48602951 C A rs11564534 PLA2G4C Nonsynonymous SNV V152F 0.01 0.013 0.01 3 12 5 0.008 3 0 0 0 0 24.5 81603 chr7 6682356 6682356 C T rs1003071419 ZNF316 Nonsynonymous SNV R106C 0.008 0.016 0 6 9 6 0.015 0 0 0 0 0 13.18 81604 chr7 154735774 154735774 T C rs144323105 PAXIP1-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 81605 chr7 154739679 154739679 T C rs61752003 PAXIP1 Synonymous SNV A952A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.31 81606 chr19 48741766 48741766 A G CARD8 Nonsynonymous SNV I28T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.297 81607 chr7 154863097 154863097 C T rs150537072 HTR5A Nonsynonymous SNV A163V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.904 81608 chr7 132192322 132192322 G A rs142219743 PLXNA4 Synonymous SNV G377G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.294 81609 chr7 132709371 132709371 C T CHCHD3 Synonymous SNV L62L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.89 81610 chr19 49110412 49110412 G A rs759931953 SPACA4 Synonymous SNV P59P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.944 81611 chr19 49134160 49134160 C T rs148306408 DBP Synonymous SNV V304V 0.013 0.01 0.01 1 15 4 0.003 3 0 0 0 0 Benign 15.43 81612 chr19 49167549 49167549 G A rs1012809089 NTN5 Nonsynonymous SNV A274V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 81613 chr8 27767254 27767254 G A rs754297792 SCARA5 Nonsynonymous SNV P308L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 81614 chr19 30106264 30106264 G A rs143408535 POP4 Nonsynonymous SNV A214T 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 23.2 81615 chr2 211060055 211060055 T C rs199818269 ACADL Nonsynonymous SNV Q331R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.42 81616 chr2 211302596 211302596 G A LANCL1 Nonsynonymous SNV P231S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 81617 chr8 28210916 28210916 G A rs148606352 ZNF395 Nonsynonymous SNV A198V 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 10.02 81618 chr2 21225485 21225485 C G rs1801702 APOB Nonsynonymous SNV R4270T 0.019 0.023 0.041 6 22 9 0.015 12 0 0 0 0 Benign/Likely benign 0.188 81619 chr2 21231592 21231592 G A rs6413458 APOB Synonymous SNV I2716I 0.016 0.023 0.034 6 19 9 0.015 10 0 0 0 0 Conflicting interpretations of pathogenicity 4.718 81620 chr7 138596000 138596000 C T rs762313878 KIAA1549 Nonsynonymous SNV V1013I 0 0 0 1 0 0 0.003 0 0 0 0 0 30 81621 chr8 32453478 32453478 A T rs201451670 NRG1 Nonsynonymous SNV N78I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 81622 chr7 21469955 21469955 A G rs779582166 SP4 Nonsynonymous SNV N374S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.519 81623 chr7 82584875 82584875 T C rs372909168 PCLO Synonymous SNV Q1798Q 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Uncertain significance 0.002 81624 chr2 219267389 219267389 T C MIR26B 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 81625 chr8 35616857 35616857 G A rs35487923 UNC5D Nonsynonymous SNV R723K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 81626 chr7 139281577 139281577 C T rs369995117 HIPK2 Nonsynonymous SNV R841Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.6 81627 chr2 219509744 219509744 G C ZNF142 Nonsynonymous SNV Q499E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 81628 chr7 139762578 139762578 G C rs201640031 PARP12 Nonsynonymous SNV P24A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.002 81629 chr7 139715641 139715641 G A rs8192868 TBXAS1 Nonsynonymous SNV E388K 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 Benign 24.2 81630 chr8 38287336 38287336 C T FGFR1 Synonymous SNV A74A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 81631 chr7 21932147 21932147 G A rs73683005 DNAH11 Synonymous SNV P4204P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 11.49 81632 chr7 21934389 21934389 G A rs377388499 DNAH11 Nonsynonymous SNV R4300H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 81633 chr19 50154477 50154477 A G rs150726073 SCAF1 Synonymous SNV E277E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.868 81634 chr7 141727424 141727424 A C rs60348346 MGAM Synonymous SNV P370P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 5.094 81635 chr19 50305843 50305843 G A rs776529479 AP2A1 Nonsynonymous SNV A723T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 81636 chr7 25194633 25194634 TT - rs775563238 C7orf31 Stop gain G199* 0.003 0 0 0 3 0 0 0 0 0 0 0 81637 chr7 25208006 25208006 C T rs141980213 C7orf31 Synonymous SNV P71P 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 10.35 81638 chr7 100675538 100675538 C A rs150719489 MUC17 Nonsynonymous SNV P281T 0.009 0 0.007 1 10 0 0.003 2 0 0 0 0 0.052 81639 chr8 28575249 28575249 G T EXTL3 Nonsynonymous SNV G558V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.6 81640 chr19 36368996 36368996 T A rs199626325 APLP1 Nonsynonymous SNV M522K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 16.85 81641 chr19 50770231 50770231 G A rs200351672 MYH14 Nonsynonymous SNV R890H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 81642 chr7 143077665 143077665 C A rs140223087 LOC100507507 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12.45 81643 chr7 94989379 94989379 C T rs139856535 PON3 Nonsynonymous SNV G324D 0.01 0.016 0.01 3 12 6 0.008 3 0 0 0 0 Benign 33 81644 chr8 30537089 30537089 T C rs374914209 GSR Nonsynonymous SNV N424S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 81645 chr7 97911703 97911703 C T rs772669474 BRI3 Synonymous SNV S61S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.4 81646 chr7 27285747 27285747 G T rs772635769 EVX1 Synonymous SNV T127T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 12.94 81647 chr7 103205779 103205779 G A rs115913736 RELN Nonsynonymous SNV S1719L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 81648 chr7 103808841 103808841 C T rs377260523 ORC5 Synonymous SNV E319E 0.005 0 0 0 6 0 0 0 0 0 0 0 12.17 81649 chr7 98984354 98984354 G C rs1045012 ARPC1B Nonsynonymous SNV K37N 0.031 0.029 0.031 16 36 11 0.041 9 1 0 0 0 24.1 81650 chr2 225811654 225811654 C G DOCK10 Synonymous SNV G5G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 81651 chr8 3253804 3253804 C A CSMD1 Nonsynonymous SNV Q835H 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 14.52 81652 chr7 1479669 1479669 C T rs188093849 MICALL2 Nonsynonymous SNV A620T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.929 81653 chr7 99091172 99091172 G A rs138491865 ZNF394 Nonsynonymous SNV R556C 0.02 0.021 0.014 12 24 8 0.031 4 1 0 0 0 20.5 81654 chr7 99269397 99269397 T C rs6977165 CYP3A5 X141W 0.034 0.029 0.037 17 40 11 0.044 11 1 0 1 0 2.425 81655 chr19 51358222 51358222 C T rs111689449 KLK3 Nonsynonymous SNV P4L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 81656 chr2 228128557 228128557 G A COL4A3 Synonymous SNV G404G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.996 81657 chr7 148920944 148920955 GCCACAGCCCCA - rs781236720 ZNF282 Q413_P416del 0.004 0 0 0 5 0 0 0 0 0 0 0 81658 chr8 37602108 37602108 C T rs16887018 ERLIN2 Synonymous SNV N106N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 13.96 81659 chr7 149133877 149133879 GTT - ZNF777 N376del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 81660 chr19 51379813 51379813 C T rs982427872 KLK2 Nonsynonymous SNV H98Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 81661 chr19 51411751 51411751 C T rs34626614 KLK4 Nonsynonymous SNV G64D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.2 81662 chr7 30818062 30818062 A G rs771111353 MINDY4 Synonymous SNV T26T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.572 81663 chr8 38677846 38677846 G T TACC1 Nonsynonymous SNV A167S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.354 81664 chr8 100874154 100874154 G A rs149318176 VPS13B Nonsynonymous SNV R3757Q 0.01 0.01 0.003 1 12 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 81665 chr8 70744598 70744598 G C rs35616937 SLCO5A1 Nonsynonymous SNV T104S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.005 81666 chr8 71128963 71128963 T C rs61753707 NCOA2 Synonymous SNV E6E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 4.99 81667 chr8 48308973 48308973 G A rs199811662 SPIDR Nonsynonymous SNV S24N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 81668 chr7 150269917 150269917 G A rs61741802 GIMAP4 Synonymous SNV A267A 0.019 0.021 0.017 8 22 8 0.021 5 0 0 0 0 4.899 81669 chr7 115889259 115889259 C G rs62621959 TES Nonsynonymous SNV A100G 0.003 0 0 1 4 0 0.003 0 1 0 0 0 26.4 81670 chr7 36366483 36366483 G C rs4723513 KIAA0895 Synonymous SNV T470T 0.008 0.008 0.017 3 9 3 0.008 5 0 0 0 0 10.02 81671 chr8 55540835 55540835 T C rs769786870 RP1 Synonymous SNV L1465L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.386 81672 chr8 75276534 75276534 T C GDAP1 Nonsynonymous SNV F279L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 81673 chr19 39009973 39009973 C T RYR1 Nonsynonymous SNV R3380C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 81674 chr8 59515787 59515787 A G rs201941051 NSMAF Nonsynonymous SNV Y374H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.3 81675 chr8 61765678 61765678 G A CHD7 Nonsynonymous SNV A2132T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.47 81676 chr7 121651751 121651751 A G rs150698072 PTPRZ1 Nonsynonymous SNV H884R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.004 81677 chr7 151851132 151851132 A G rs150192787 KMT2C Nonsynonymous SNV I4080T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.8 81678 chr7 1526300 1526300 G A rs117508585 INTS1 Synonymous SNV L979L 0.014 0.016 0.003 9 16 6 0.023 1 0 1 0 0 9.979 81679 chr7 150873331 150873331 C T rs104886486 ASB10 Synonymous SNV S386S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign 18.91 81680 chr7 123508328 123508328 A G rs12672205 HYAL4 Star tloss M1? 0.043 0.029 0.01 13 50 11 0.033 3 1 0 0 0 18.82 81681 chr7 151574225 151574225 G A rs73160072 PRKAG2-AS1 0.016 0.029 0 5 19 11 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.207 81682 chr19 52618483 52618483 C T rs115812880 ZNF616 Nonsynonymous SNV R645H 0.01 0.005 0.017 4 12 2 0.01 5 0 0 0 0 13.11 81683 chr7 1536829 1536829 C T INTS1 Nonsynonymous SNV C516Y 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 81684 chr7 154379570 154379570 C T rs79320411 DPP6 Nonsynonymous SNV P280S 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 5.237 81685 chr8 67341378 67341378 G A rs3739334 RRS1 Synonymous SNV Q4Q 0.033 0.026 0.037 11 39 10 0.028 11 0 0 1 0 5.351 81686 chr7 154379742 154379742 G T rs138763198 DPP6 Nonsynonymous SNV G337V 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 1.265 81687 chr8 67342077 67342077 G A rs3739337 RRS1 Synonymous SNV E237E 0.033 0.026 0.037 12 39 10 0.031 11 0 0 1 0 3.538 81688 chr8 68200276 68200276 T C rs76811394 ARFGEF1 Nonsynonymous SNV Y314C 0.003 0 0 0 4 0 0 0 0 0 0 0 14.73 81689 chr7 127979347 127979347 C T rs61733107 RBM28 Synonymous SNV P102P 0.009 0.01 0.003 5 11 4 0.013 1 0 0 0 0 Benign 13.71 81690 chr19 40514441 40514441 A C rs141247816 ZNF546 Synonymous SNV V95V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.986 81691 chr2 238484084 238484084 T C RAB17 Nonsynonymous SNV M159V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 81692 chr7 155596413 155596413 C T rs9333633 SHH Synonymous SNV S190S 0.005 0.005 0.02 1 6 2 0.003 6 0 0 0 0 Benign/Likely benign 18.21 81693 chr8 97285561 97285561 G A rs149279242 PTDSS1 Nonsynonymous SNV G72S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 29.5 81694 chr9 100234633 100234633 T C rs12552100 TDRD7 Synonymous SNV C526C 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign/Likely benign 6.613 81695 chr7 158482556 158482556 C T NCAPG2 Nonsynonymous SNV M209I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 81696 chr8 120428816 120428816 G T rs35712802 CCN3 Nonsynonymous SNV C15F 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 21.9 81697 chr7 4821277 4821277 C T rs369050534 AP5Z1 Synonymous SNV C86C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.801 81698 chr2 241660387 241660387 G T rs76974316 KIF1A Synonymous SNV T1503T 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 Benign/Likely benign 8.436 81699 chr7 1786560 1786560 C T rs771713224 ELFN1 Synonymous SNV I776I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.146 81700 chr2 241835281 241835281 G A rs749141727 MAB21L4 Nonsynonymous SNV T45M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 81701 chr9 104375760 104375760 G A rs143542253 GRIN3A Synonymous SNV S888S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.85 81702 chr8 124440260 124440260 G A rs10505435 WDYHV1 Synonymous SNV K60K 0.032 0.016 0.024 7 38 6 0.018 7 0 0 1 0 12.19 81703 chr7 21469348 21469348 C T SP4 Synonymous SNV L172L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.06 81704 chr19 54327415 54327415 G T rs761545315 NLRP12 Nonsynonymous SNV A5E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.365 81705 chr19 44352010 44352010 T C ZNF283 Synonymous SNV I280I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.907 81706 chr2 242498347 242498347 G C rs555328312 BOK-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 7.005 81707 chr2 242498497 242498497 G A rs76993203 BOK-AS1 0 0 0.143 0 0 0 0 42 0 0 15 0 8.194 81708 chr2 242498984 242498984 C G rs142158341 BOK Nonsynonymous SNV A29G 0.02 0.034 0.014 10 24 13 0.026 4 0 0 1 0 23.3 81709 chr8 98289028 98289028 T C rs750365661 TSPYL5 Nonsynonymous SNV S349G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 81710 chr7 21818707 21818707 T C rs201207627 DNAH11 Synonymous SNV D3156D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 81711 chr7 51141077 51141077 A T rs117222823 COBL Nonsynonymous SNV C368S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.7 81712 chr19 54848178 54848178 C T rs142697594 LILRA4 Nonsynonymous SNV G397S 0.004 0 0 0 5 0 0 0 0 0 0 0 18.79 81713 chr19 54930369 54930369 A G rs759465020 TTYH1 Nonsynonymous SNV Y65C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 81714 chr7 27150149 27150149 G T rs139516432 HOXA3 Synonymous SNV A37A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 8.22 81715 chr7 27182912 27182912 G T rs368436023 HOXA5 Synonymous SNV A105A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 9.387 81716 chr9 101984048 101984048 G C rs35055733 ALG2 Synonymous SNV R43R 0.009 0.005 0.007 5 10 2 0.013 2 0 0 0 0 Benign/Likely benign 14.42 81717 chr7 143039220 143039220 G T rs746346988 CLCN1 Nonsynonymous SNV G594V 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 23.9 81718 chr2 27352987 27352987 T C rs765545178 ABHD1 Nonsynonymous SNV I269T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 81719 chr7 6196638 6196638 C T rs145344763 USP42 Nonsynonymous SNV R1299W 0.001 0 0 0 1 0 0 0 0 0 0 0 26 81720 chr7 29111950 29111950 A G rs62442642 CPVL Synonymous SNV I233I 0.007 0.003 0.024 4 8 1 0.01 7 0 0 0 0 9.575 81721 chr9 113189885 113189885 G A rs752456785 SVEP1 Synonymous SNV Y1987Y 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 4.318 81722 chr19 55447703 55447703 G A rs571211521 NLRP7 Synonymous SNV I742I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.287 81723 chr7 2770963 2770963 T C rs753001643 GNA12 Nonsynonymous SNV Q257R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 81724 chr7 30830918 30830918 C T rs202164342 MINDY4 Synonymous SNV P267P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.68 81725 chr19 55697307 55697307 G - rs565449753 PTPRH H764Mfs*6 0.003 0 0 0 3 0 0 0 0 0 0 0 81726 chr19 55738568 55738568 G A rs140752855 TMEM86B Nonsynonymous SNV P220L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.505 81727 chr8 142178385 142178385 C T rs144554854 DENND3 Nonsynonymous SNV T679M 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 10.09 81728 chr7 30795280 30795280 C T rs147878270 INMT Nonsynonymous SNV P201L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.67 81729 chr7 149500812 149500812 G A rs767292676 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 8.392 81730 chr7 150269935 150269935 T A GIMAP4 Stop gain Y273X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 81731 chr9 116812318 116812318 G A rs762676412 ZNF618 Synonymous SNV A879A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.016 81732 chr19 55899404 55899404 C T rs146377570 RPL28 Synonymous SNV P104P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.83 81733 chr9 113197533 113197533 T C rs151157223 SVEP1 Nonsynonymous SNV I1626V 0.008 0 0 3 9 0 0.008 0 0 0 0 0 13.98 81734 chr19 45579397 45579397 G C ZNF296 Nonsynonymous SNV L79V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.79 81735 chr9 113208278 113208278 G A rs150232127 SVEP1 Synonymous SNV G1434G 0.008 0 0 3 9 0 0.008 0 0 0 0 0 7.723 81736 chr7 150732675 150732675 G A rs143198607 ABCB8 Nonsynonymous SNV R170Q 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 34 81737 chr9 117136409 117136409 G A rs41278661 AKNA Synonymous SNV A341A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 81738 chr7 150769139 150769139 C T SLC4A2 Synonymous SNV R808R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.24 81739 chr7 36397147 36397147 T C rs765077275 KIAA0895 Synonymous SNV A26A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.65 81740 chr9 115642095 115642095 C T rs74339125 SLC46A2 Nonsynonymous SNV V459M 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 25.1 81741 chr7 154760756 154760756 A G rs371861823 PAXIP1 Synonymous SNV N385N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.015 81742 chr2 42275643 42275643 C G rs534596867 PKDCC Nonsynonymous SNV P102A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.099 81743 chr7 8153628 8153628 G A rs267601579 ICA1 Synonymous SNV F384F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.45 81744 chr7 4188973 4188973 G A rs150264283 SDK1 Synonymous SNV P1501P 0.01 0.016 0 6 12 6 0.015 0 0 1 0 0 8.049 81745 chr2 43802094 43802094 G A rs755376120 THADA Synonymous SNV V370V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.051 81746 chr7 84727240 84727240 A G rs147821428 SEMA3D Nonsynonymous SNV S65P 0.014 0.005 0.003 3 16 2 0.008 1 0 0 0 0 16.46 81747 chr9 122011391 122011391 C T rs750600271 BRINP1 Nonsynonymous SNV E86K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 81748 chr7 43830880 43830880 A G rs1050916 BLVRA Nonsynonymous SNV Q56R 0.005 0.01 0.014 3 6 4 0.008 4 0 0 0 0 Benign 26.6 81749 chr7 883107 883107 C T rs144929525 SUN1 Nonsynonymous SNV A14V 0.004 0.003 0.017 2 5 1 0.005 5 0 0 0 0 Benign 8.118 81750 chr2 48809422 48809422 C T rs149386954 STON1, STON1-GTF2A1L Synonymous SNV A550A 0.003 0.003 0.01 4 3 1 0.01 3 0 0 0 0 1.337 81751 chr8 144803785 144803785 T C rs35986760 MAPK15 Nonsynonymous SNV L424P 0.018 0.026 0.014 8 21 10 0.021 4 0 0 0 0 0.698 81752 chr7 91645454 91645454 T C rs142610139 AKAP9 Synonymous SNV S1208S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 4.608 81753 chr7 91774220 91774220 C T rs117527729 LRRD1 Synonymous SNV T855T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.69 81754 chr19 57325727 57325727 A G rs145005818 PEG3 Synonymous SNV D1206D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 0.009 81755 chr2 55056583 55056583 T G rs778702813 EML6 Nonsynonymous SNV I272M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 81756 chr9 125486365 125486365 C T rs142601071 OR1L4 Nonsynonymous SNV L33F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 10.37 81757 chr8 144992781 144992781 C T rs200273549 PLEC Synonymous SNV P3722P 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 Benign 5.615 81758 chr2 60614572 60614572 G A rs243080 MIR4432 0 0 0.313 0 0 0 0 92 0 0 8 0 1.504 81759 chr7 45222926 45222926 C T rs146295145 RAMP3 Nonsynonymous SNV P121L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.2 81760 chr7 23293790 23293790 G T rs200247677 GPNMB Nonsynonymous SNV G76C 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 25.1 81761 chr2 61404905 61404905 C G rs3821224 AHSA2P 0 0 0.058 0 0 0 0 17 0 0 2 0 4.256 81762 chr7 47385793 47385793 C T rs201649683 TNS3 Nonsynonymous SNV V815I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.389 81763 chr19 57955719 57955719 G A rs2240037 ZNF749 Synonymous SNV Q314Q 0.017 0.018 0.027 6 20 7 0.015 8 1 0 0 0 7.84 81764 chr19 57955729 57955729 G A rs2240038 ZNF749 Nonsynonymous SNV A318T 0.017 0.018 0.027 6 20 7 0.015 8 1 0 0 0 1.189 81765 chr2 63824690 63824690 C T rs200076644 MDH1 Synonymous SNV Y30Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.62 81766 chr19 57955971 57955971 C T rs2240039 ZNF749 Synonymous SNV C398C 0.017 0.018 0.027 6 20 7 0.015 8 1 0 0 0 2.62 81767 chr2 64779088 64779090 TGT - rs777255763 AFTPH V162del 0 0 0.003 0 0 0 0 1 0 0 0 0 81768 chr7 2394790 2394790 C T EIF3B Synonymous SNV S78S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.7 81769 chr2 64863244 64863244 G A rs141485646 SERTAD2 Synonymous SNV S254S 0.028 0.023 0.027 12 33 9 0.031 8 0 0 1 0 6.769 81770 chr19 57956186 57956186 T C rs2240040 ZNF749 Nonsynonymous SNV V470A 0.017 0.018 0.027 6 20 7 0.015 8 1 0 0 0 0.003 81771 chr7 98452939 98452939 G T rs17161483 TMEM130 Synonymous SNV R141R 0.012 0.018 0.02 1 14 7 0.003 6 0 0 0 0 12.13 81772 chr19 57956706 57956706 G A rs61745342 ZNF749 Synonymous SNV G643G 0.017 0.018 0.027 6 20 7 0.015 8 1 0 0 0 3.065 81773 chr7 98554150 98554150 C T TRRAP Synonymous SNV I2050I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.92 81774 chr2 65296745 65296745 G T rs41285945 CEP68 Nonsynonymous SNV W56L 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 16.57 81775 chr8 145024372 145024372 G A rs201053471 PLEC Nonsynonymous SNV P168L 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 13.78 81776 chr7 99725216 99725216 C A rs371728730 MBLAC1 Synonymous SNV G66G 0.016 0.029 0.014 4 19 11 0.01 4 0 1 0 0 12.76 81777 chr8 145095801 145095801 C A rs782584086 SPATC1 Synonymous SNV R367R 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 12.54 81778 chr19 58596535 58596535 C G ZSCAN18 Nonsynonymous SNV Q214H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.215 81779 chr19 49797664 49797664 C T rs138253216 SLC6A16 Nonsynonymous SNV R459H 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 6.388 81780 chr7 27825061 27825061 C T rs142832236 TAX1BP1 Nonsynonymous SNV L112F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.2 81781 chr7 50467998 50467998 C T IKZF1 Synonymous SNV L181L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.802 81782 chr19 58868337 58868337 T G rs144974711 ZNF497 Nonsynonymous SNV E222A 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 23.5 81783 chr9 127262802 127262802 C G rs1110061 NR5A1 Nonsynonymous SNV G146A 0.026 0.029 0.017 20 31 11 0.051 5 0 0 1 0 Benign 0.001 81784 chr7 29976176 29976176 A G SCRN1 Nonsynonymous SNV S233P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 81785 chr9 130565326 130565326 G A rs11554716 FPGS Synonymous SNV P41P 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 14.97 81786 chr7 50671754 50671754 G A rs61756585 GRB10 Synonymous SNV H449H 0.013 0.01 0.01 6 15 4 0.015 3 0 0 0 0 11.38 81787 chr7 30668240 30668240 A T GARS1 Synonymous SNV V534V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 81788 chr2 73675110 73675110 A G rs73945001 ALMS1 Nonsynonymous SNV I485V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.224 81789 chr8 10467637 10467637 - CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC RP1L1 E1323_E1324insGTKVIEGLQEEGVQLE 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 81790 chr9 130684360 130684360 C T PIP5KL1 Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 81791 chr9 131072099 131072099 G A rs2231641 TRUB2 Synonymous SNV I198I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.964 81792 chr8 10623138 10623140 TCT - rs754430820 PINX1 K253del 0.001 0 0 0 1 0 0 0 0 0 0 0 81793 chr19 50666391 50666391 A C rs767598343 IZUMO2 Nonsynonymous SNV C21G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.3 81794 chr9 131670217 131670217 C T rs41275930 LRRC8A Synonymous SNV D258D 0.026 0.039 0.027 12 31 15 0.031 8 1 0 0 0 Benign 0.022 81795 chr8 10623141 10623141 T A rs201016513 PINX1 Stop gain K253X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 81796 chr9 131709581 131709581 - T rs531969689 DOLK M1M 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 81797 chr2 74595177 74595177 C A rs146865209 DCTN1 Nonsynonymous SNV A512S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.132 81798 chr9 131767806 131767806 T G rs61751465 NUP188 Nonsynonymous SNV D1578E 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 23 81799 chr9 131774571 131774571 G A rs142602092 SH3GLB2 Nonsynonymous SNV P190S 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 26.2 81800 chr7 36406438 36406438 C A KIAA0895 Nonsynonymous SNV G5V 0.003 0 0 0 4 0 0 0 0 0 0 0 9.6 81801 chr8 110453028 110453028 C A rs185023340 PKHD1L1 Nonsynonymous SNV T1349N 0.006 0 0.014 5 7 0 0.013 4 0 0 0 0 26 81802 chr8 110505963 110505963 A G rs118053060 PKHD1L1 Nonsynonymous SNV D3437G 0.024 0.023 0.065 18 28 9 0.046 19 0 0 1 0 29.2 81803 chr2 75104329 75104329 G A rs28363014 HK2 Synonymous SNV E304E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.54 81804 chr8 16859272 16859272 C G FGF20 Nonsynonymous SNV Q90H 0.01 0.013 0 2 12 5 0.005 0 0 0 0 0 19.82 81805 chr9 132631642 132631642 G A rs36055332 USP20 Nonsynonymous SNV V444I 0.032 0.018 0.014 21 38 7 0.054 4 0 0 0 1 18.87 81806 chr8 16859275 16859275 C G FGF20 Synonymous SNV R89R 0.01 0.013 0 3 12 5 0.008 0 0 0 0 0 17.12 81807 chr8 16859281 16859281 G C FGF20 Synonymous SNV G87G 0.02 0.023 0 5 23 9 0.013 0 0 0 0 0 12.56 81808 chr7 65444841 65444841 C T rs149606212 GUSB Nonsynonymous SNV D152N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance, other 23.9 81809 chr2 75185974 75185974 G A rs142493904 POLE4 Synonymous SNV V56V 0.013 0.026 0.02 8 15 10 0.021 6 0 0 0 0 Benign 14.13 81810 chr7 65705547 65705547 G A rs146783639 TPST1 Synonymous SNV E45E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.566 81811 chr7 6449869 6449869 G A rs371471173 DAGLB Nonsynonymous SNV P442L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 81812 chr7 72985185 72985185 G A rs146437532 TBL2 Synonymous SNV A167A 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 4.842 81813 chr7 4304983 4304983 A T rs201456300 SDK1 Synonymous SNV R2203R 0.003 0.01 0 6 4 4 0.015 0 0 0 0 1 0.125 81814 chr7 65599362 65599362 G C rs770745918 CRCP 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.7 81815 chr7 6639519 6639519 C G C7orf26 Nonsynonymous SNV P195A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 81816 chr19 51519354 51519354 G A rs111312001 KLK10 Nonsynonymous SNV R110C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 26.9 81817 chr8 17726117 17726117 T C FGL1 Nonsynonymous SNV D240G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.4 81818 chr7 43679258 43679258 A G rs144600524 COA1 Synonymous SNV L110L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.519 81819 chr7 73020418 73020418 C T rs73702542 MLXIPL Synonymous SNV P214P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16 81820 chr8 124267666 124267666 G A rs35951597 ZHX1 Nonsynonymous SNV S174L 0.009 0.008 0 8 10 3 0.021 0 0 0 0 0 20.6 81821 chr8 17739626 17739626 G A FGL1 Synonymous SNV T42T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.93 81822 chr9 133927935 133927935 G A rs150171154 LAMC3 Nonsynonymous SNV R563Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 5.524 81823 chr7 73151643 73151643 C T rs61745525 ABHD11 Nonsynonymous SNV V68M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 3.189 81824 chr8 17794792 17794792 G A rs17691680 PCM1 Synonymous SNV T82T 0.026 0.036 0.014 6 31 14 0.015 4 1 0 0 0 8.047 81825 chr8 124442224 124442224 T C rs148610667 WDYHV1 Nonsynonymous SNV I2T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 81826 chr20 2618182 2618182 G A rs141449402 TMC2 Synonymous SNV E816E 0.005 0.005 0 7 6 2 0.018 0 0 0 0 0 7.832 81827 chr2 88478332 88478332 C T rs745405598 THNSL2 Nonsynonymous SNV P43L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 81828 chr7 44578500 44578500 G A rs35803101 NPC1L1 Nonsynonymous SNV T499M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 22.7 81829 chr20 2816762 2816762 A G rs144737230 PCED1A Nonsynonymous SNV F296S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 16.24 81830 chr20 2841196 2841196 C T VPS16 Synonymous SNV A157A 0.002 0 0 5 2 0 0.013 0 0 0 0 0 12.59 81831 chr7 75401263 75401263 C T rs41463245 CCL26 Stop gain W44X 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 35 81832 chr7 75442723 75442723 G A rs11465293 CCL24 Nonsynonymous SNV S31F 0.037 0.036 0.031 8 44 14 0.021 9 0 0 0 0 7.199 81833 chr9 134353895 134353895 G A rs780014943 PRRC2B Synonymous SNV G1549G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.66 81834 chr7 8009280 8009280 C T rs545986371 GLCCI1 Nonsynonymous SNV A100V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 24.5 81835 chr20 3236701 3236701 G A rs200104613 C20orf194 Nonsynonymous SNV S1071F 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 28.2 81836 chr2 97357320 97357320 G A rs939522468 FER1L5 Nonsynonymous SNV A1016T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.444 81837 chr7 45725648 45725648 A G rs74535389 ADCY1 Nonsynonymous SNV T721A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.076 81838 chr8 125575047 125575047 G T rs16899702 MTSS1 Synonymous SNV P337P 0.017 0.005 0.014 1 20 2 0.003 4 0 0 0 0 0.082 81839 chr7 82545226 82545226 T C rs374336010 PCLO Nonsynonymous SNV I4026V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.77 81840 chr9 135277000 135277000 A G rs146548922 TTF1 Synonymous SNV S403S 0.017 0.021 0.003 7 20 8 0.018 1 0 0 0 0 0.951 81841 chr9 135140000 135140000 A T rs368269464 SETX Nonsynonymous SNV F2554I 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 10.88 81842 chr2 98916550 98916550 T C rs191920762 VWA3B Synonymous SNV D754D 0.01 0 0.003 1 12 0 0.003 1 0 0 0 0 Benign 0.328 81843 chr3 100119611 100119611 C A rs138465118 TOMM70 Synonymous SNV R61R 0.017 0.008 0.02 4 20 3 0.01 6 0 0 0 0 14.95 81844 chr20 3869801 3869801 A G rs886056650 PANK2 Synonymous SNV S18S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.472 81845 chr7 4794885 4794885 G A rs145670571 FOXK1 Synonymous SNV P307P 0.004 0 0 5 5 0 0.013 0 0 0 0 1 7.54 81846 chr7 47970836 47970840 GCACA - PKD1L1 C200Gfs*67 0.002 0 0 1 2 0 0.003 0 0 0 0 0 81847 chr9 135698658 135698658 C T rs777668036 AK8 Nonsynonymous SNV G230R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 81848 chr7 80427530 80427530 C T rs1527482 SEMA3C Nonsynonymous SNV V355M 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 33 81849 chr7 87477176 87477176 A G rs867007174 SLC25A40 Nonsynonymous SNV V150A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.909 81850 chr3 101540387 101540387 T G rs35598292 NXPE3 Nonsynonymous SNV H354Q 0.026 0.039 0.051 7 30 15 0.018 15 0 0 0 0 4.454 81851 chr3 107492091 107492091 G A rs747655585 BBX Nonsynonymous SNV R508H 0 0 0.003 0 0 0 0 1 0 0 0 0 30 81852 chr7 4827359 4827359 C T rs181396911 AP5Z1 Nonsynonymous SNV A313V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.421 81853 chr9 136307825 136307825 C T rs41314453 ADAMTS13 Nonsynonymous SNV A732V 0.014 0.008 0.01 6 17 3 0.015 3 1 0 0 0 Likely benign 19.33 81854 chr8 133584564 133584564 G A rs139131485 LRRC6 Nonsynonymous SNV P382L 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 81855 chr8 22428662 22428662 C T rs61738841 SORBS3 Synonymous SNV D215D 0.01 0.016 0.003 2 12 6 0.005 1 0 0 0 0 7.266 81856 chr8 22863536 22863536 C T rs534159708 RHOBTB2 Synonymous SNV T127T 0 0.008 0 0 0 3 0 0 0 0 0 0 10.19 81857 chr3 111831723 111831723 - AAAA MIR567 0 0 0.041 0 0 0 0 12 0 0 0 0 81858 chr8 139165414 139165414 C T FAM135B Nonsynonymous SNV S435N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 81859 chr9 138586940 138586940 C A rs55674357 SOHLH1 Synonymous SNV L277L 0.012 0.013 0.017 4 14 5 0.01 5 0 0 0 0 7.504 81860 chr9 138395840 138395840 G A rs150104838 MRPS2 Nonsynonymous SNV R251K 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 6.547 81861 chr9 138555237 138555237 A G rs200437673 LCN9 Nonsynonymous SNV M24V 0.009 0.016 0 13 11 6 0.033 0 0 0 0 0 0.001 81862 chr8 141370237 141370237 G A rs117632905 TRAPPC9 Synonymous SNV Y460Y 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.58 81863 chr9 138649179 138649179 C G rs117286274 KCNT1 Synonymous SNV P189P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 10.96 81864 chr9 139092477 139092477 G A rs142400016 LHX3 Nonsynonymous SNV R57C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 81865 chr7 91842546 91842546 T C rs202120786 KRIT1 Nonsynonymous SNV N615S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 81866 chr8 25257451 25257451 C G rs137938378 DOCK5 Nonsynonymous SNV Q1577E 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 12.89 81867 chr8 25323723 25323723 T C rs115997963 CDCA2 Synonymous SNV T125T 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 2.266 81868 chr8 25360923 25360923 G T rs115829566 CDCA2 Nonsynonymous SNV G554V 0.008 0.013 0.003 2 9 5 0.005 1 0 0 0 0 23.1 81869 chr8 25361033 25361033 A G rs115998499 CDCA2 Nonsynonymous SNV I591V 0.007 0.013 0.003 1 8 5 0.003 1 0 0 0 0 0.001 81870 chr8 25364101 25364101 G C rs113799371 CDCA2 Nonsynonymous SNV R625P 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 1.547 81871 chr7 94913407 94913407 T C rs117573976 PPP1R9A Nonsynonymous SNV M1085T 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 Likely benign 15.55 81872 chr8 25364319 25364319 T A rs116133624 CDCA2 Nonsynonymous SNV S698T 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 7.508 81873 chr8 25364894 25364894 T G rs115541844 CDCA2 Synonymous SNV G889G 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 3.932 81874 chr3 113285272 113285272 A C rs61734094 SIDT1 Synonymous SNV T76T 0.017 0.029 0.017 3 20 11 0.008 5 0 0 0 0 0.003 81875 chr3 113302291 113302291 A G rs73853730 SIDT1 Synonymous SNV V199V 0.017 0.023 0.014 1 20 9 0.003 4 0 0 0 0 8.7 81876 chr9 139397728 139397728 C T rs61751538 NOTCH1 Synonymous SNV Q1691Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign/Likely benign 13.72 81877 chr7 98490152 98490152 - T rs782045958 TRRAP 0.001 0 0 0 1 0 0 0 0 0 0 0 81878 chr7 98609888 98609888 C T rs148264072 TRRAP Synonymous SNV G3801G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 81879 chr19 54844922 54844922 G A rs994905009 LILRA4 Nonsynonymous SNV P474L 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 2.125 81880 chr7 98790720 98790720 A G rs904221555 KPNA7 Synonymous SNV D186D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.32 81881 chr7 99017025 99017025 C T rs200813675 BUD31 Synonymous SNV I132I 0.001 0 0 0 1 0 0 0 0 0 0 0 20 81882 chr3 114069607 114069607 C T rs138924453 ZBTB20 Nonsynonymous SNV E440K 0.014 0.013 0.01 1 17 5 0.003 3 0 0 0 0 Benign/Likely benign 20.5 81883 chr7 99091179 99091179 C T rs115901783 ZNF394 Synonymous SNV S553S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 81884 chr8 2820895 2820895 C T rs35515847 CSMD1 Synonymous SNV P3101P 0.017 0.01 0.024 18 20 4 0.046 7 0 0 0 1 10.47 81885 chr20 30407978 30407978 A G rs28763880 MYLK2 Synonymous SNV K34K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 0.644 81886 chr8 101075737 101075737 T G RGS22 Nonsynonymous SNV K239T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 81887 chr9 139907481 139907481 C T rs140986944 ABCA2 Nonsynonymous SNV V1614I 0.003 0.01 0.007 1 3 4 0.003 2 0 0 0 0 0.004 81888 chr8 2910075 2910075 C T rs35071327 CSMD1 Synonymous SNV E2523E 0.026 0.016 0.017 24 31 6 0.062 5 1 0 0 1 10.67 81889 chr7 73474367 73474367 T A rs61734584 ELN Synonymous SNV G441G 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 Benign/Likely benign 1.008 81890 chr9 140001880 140001880 G A rs557278057 MAN1B1 Nonsynonymous SNV R582H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.028 81891 chr9 140006378 140006378 G A rs139530173 DPP7 Nonsynonymous SNV T385I 0.002 0.018 0 0 2 7 0 0 0 0 0 0 23.2 81892 chr8 30702739 30702739 G C rs117362953 TEX15 Nonsynonymous SNV D1648E 0.011 0.01 0.003 4 13 4 0.01 1 0 0 0 0 20.2 81893 chr7 75401207 75401207 A C rs782203805 CCL26 Nonsynonymous SNV I63R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.8 81894 chr9 140147688 140147688 C T rs761213212 STPG3 Nonsynonymous SNV H312Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.004 81895 chr9 140147715 140147715 C T rs778312343 STPG3 Synonymous SNV L321L 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 4.345 81896 chr9 140243729 140243729 C T rs200080727 EXD3 Nonsynonymous SNV D555N 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 24.9 81897 chr20 32376745 32376745 C T rs140105337 ZNF341 Synonymous SNV I553I 0.015 0.023 0.017 9 18 9 0.023 5 0 0 1 0 16.74 81898 chr20 33594301 33594301 C T rs139975509 TRPC4AP Synonymous SNV E588E 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 16.27 81899 chr20 34320009 34320009 G A rs777356220 RBM39 Synonymous SNV S50S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.83 81900 chr9 15307224 15307224 G A rs184966558 TTC39B Nonsynonymous SNV P33L 0.012 0.008 0.01 1 14 3 0.003 3 0 0 0 0 14.49 81901 chr7 81388042 81388042 T C rs5745635 HGF Synonymous SNV E111E 0.019 0.005 0.031 9 22 2 0.023 9 0 0 0 0 Benign/Likely benign 1.296 81902 chr3 122459447 122459447 T C HSPBAP1 Synonymous SNV S376S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.703 81903 chr9 17236494 17236494 C T rs200620921 CNTLN Nonsynonymous SNV R253C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 81904 chr20 36993333 36993333 A G rs2232607 LBP Nonsynonymous SNV D283G 0.022 0.031 0.01 7 26 12 0.018 3 1 0 0 0 23.7 81905 chr9 17415847 17415847 A G rs41268971 CNTLN Nonsynonymous SNV Q952R 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 1.825 81906 chr8 10470757 10470757 G A rs74594406 RP1L1 Nonsynonymous SNV P284L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.523 81907 chr8 110100209 110100209 C T rs750023755 TRHR Synonymous SNV Y156Y 0.003 0.01 0 0 3 4 0 0 0 0 0 0 2.266 81908 chr8 110447512 110447512 G C rs142972518 PKHD1L1 Nonsynonymous SNV G1145A 0.036 0.039 0.02 10 42 15 0.026 6 2 0 0 0 0.002 81909 chr8 110510964 110510964 A C rs191412861 PKHD1L1 Nonsynonymous SNV S3598R 0.017 0.023 0.003 6 20 9 0.015 1 0 0 0 0 27 81910 chr9 17466802 17466802 A G rs28377535 CNTLN Synonymous SNV A1255A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.453 81911 chr7 87031513 87031513 T G ABCB4 Nonsynonymous SNV N1200H 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 23.3 81912 chr3 124157806 124157806 G A rs2289837 KALRN Synonymous SNV K1038K 0.001 0.016 0.02 4 1 6 0.01 6 0 0 0 0 13.21 81913 chr9 19786020 19786020 A C rs41313971 SLC24A2 Nonsynonymous SNV F282C 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 23.6 81914 chr9 18777268 18777268 C T rs117786774 ADAMTSL1 Nonsynonymous SNV A1014V 0.026 0.034 0.027 11 30 13 0.028 8 0 0 0 0 8.777 81915 chr9 20926306 20926306 C A rs201363252 FOCAD Nonsynonymous SNV P990T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 27.4 81916 chr20 43851737 43851737 T G rs143954565 SEMG2 Nonsynonymous SNV D488E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 81917 chr8 120430443 120430443 G A rs146047439 CCN3 Synonymous SNV E152E 0.006 0 0 0 7 0 0 0 0 0 0 0 8.188 81918 chr8 145642111 145642111 C G rs13251676 SLC39A4 Synonymous SNV T21T 0.055 0.07 0.048 17 65 27 0.044 14 1 1 1 1 Likely benign 10.24 81919 chr8 145661268 145661268 G A rs751268411 TONSL Nonsynonymous SNV P850S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 81920 chr3 126180820 126180820 G A rs16837497 ZXDC Nonsynonymous SNV P562L 0.036 0.036 0.041 6 42 14 0.015 12 3 1 0 0 16.99 81921 chr3 126707577 126707577 C T rs781271756 PLXNA1 Synonymous SNV S47S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.839 81922 chr3 127980995 127980995 C T rs61740550 EEFSEC Synonymous SNV P183P 0.019 0.021 0.014 14 22 8 0.036 4 0 0 0 0 13.46 81923 chr3 128204877 128204877 C G rs34870876 GATA2 Synonymous SNV T188T 0.028 0.023 0.031 11 33 9 0.028 9 0 0 0 0 Benign 8.829 81924 chr8 146171541 146171541 G A rs370512449 ZNF16 Nonsynonymous SNV P18S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.36 81925 chr20 45867756 45867756 G A rs369116353 ZMYND8 Nonsynonymous SNV T732M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 81926 chr8 124238771 124238771 A G rs61752957 C8orf76, ZHX1-C8orf76 Nonsynonymous SNV F306S 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 25.2 81927 chr8 15480643 15480643 A G rs11545035 TUSC3 Nonsynonymous SNV I65V 0.011 0.005 0.007 6 13 2 0.015 2 0 0 0 0 Benign/Likely benign 0.572 81928 chr3 129234411 129234411 C T rs781733102 IFT122 Synonymous SNV R968R 0 0 0.007 0 0 0 0 2 0 0 0 0 15.21 81929 chr3 129290378 129290378 C T rs141540298 PLXND1 Nonsynonymous SNV V1104I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 23.3 81930 chr3 130159635 130159635 G A rs73214742 COL6A5 Synonymous SNV A2151A 0.011 0.003 0.014 6 13 1 0.015 4 0 0 0 0 6.548 81931 chr20 50140629 50140629 C G rs140836558 NFATC2 Nonsynonymous SNV V31L 0.002 0.008 0.014 9 2 3 0.023 4 0 0 0 0 Benign 10.63 81932 chr8 100147838 100147838 C T rs141324814 VPS13B Synonymous SNV F480F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.66 81933 chr8 75262768 75262768 T C rs142674939 GDAP1 Synonymous SNV V24V 0.008 0.005 0 0 9 2 0 0 0 0 0 0 Likely benign 11.75 81934 chr20 52192595 52192595 C T rs61748378 ZNF217 Nonsynonymous SNV R903Q 0.006 0.003 0.01 6 7 1 0.015 3 0 0 0 0 22 81935 chr20 55012234 55012234 G C CASS4 Nonsynonymous SNV R17S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 81936 chr8 19263348 19263348 G A rs748633654 CSGALNACT1 Synonymous SNV H514H 0.003 0 0 0 4 0 0 0 0 0 0 0 8.538 81937 chr20 55021046 55021046 G A rs757147059 CASS4 Nonsynonymous SNV V130M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.065 81938 chr19 58234625 58234625 G A ZNF671 Synonymous SNV Y74Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.641 81939 chr8 102570781 102570781 G A rs753218880 GRHL2 Nonsynonymous SNV S124N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 2.707 81940 chr20 55111228 55111228 G A rs61440263 FAM209B Nonsynonymous SNV E84K 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 22 81941 chr8 8234468 8234468 C T rs752746430 PRAG1 Nonsynonymous SNV R484Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 81942 chr8 2040178 2040178 C A rs34004023 MYOM2 Synonymous SNV V611V 0.022 0.023 0.027 16 26 9 0.041 8 0 0 0 0 10.89 81943 chr8 133899575 133899575 G A rs2069548 TG Nonsynonymous SNV G653D 0.019 0.013 0.014 4 22 5 0.01 4 0 0 0 0 Uncertain significance 24.1 81944 chr8 82588492 82588492 T C rs204781 IMPA1 Nonsynonymous SNV I109V 0.003 0.016 0.007 4 4 6 0.01 2 0 0 0 0 15.88 81945 chr8 86244732 86244732 G A rs61734485 CA1 Nonsynonymous SNV A54V 0.028 0.026 0.037 16 33 10 0.041 11 0 0 0 1 Benign 12.05 81946 chr8 21953944 21953944 G A rs566229900 FAM160B2 Nonsynonymous SNV G74D 0.007 0.005 0 0 8 2 0 0 0 0 0 0 9.7 81947 chr3 13612989 13612989 G A rs113071988 FBLN2 Synonymous SNV R378R 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 5.522 81948 chr3 13613081 13613081 C T rs113265853 FBLN2 Nonsynonymous SNV P409L 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 12.44 81949 chr20 56730582 56730582 G A rs557839246 C20orf85 Nonsynonymous SNV R70H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 81950 chr20 56735717 56735717 G T rs200684556 C20orf85 Nonsynonymous SNV V85F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 81951 chr9 4286392 4286392 G A rs200950499 GLIS3 Nonsynonymous SNV R12W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 32 81952 chr9 4567710 4567710 A G rs542017369 SLC1A1 Synonymous SNV P175P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.337 81953 chr9 4849515 4849515 T C rs35815255 RCL1 Synonymous SNV V126V 0.009 0.01 0.014 4 10 4 0.01 4 0 0 0 0 Benign 7.566 81954 chr9 74840668 74840668 G A rs61752956 GDA Nonsynonymous SNV V264M 0.01 0.01 0.01 2 12 4 0.005 3 0 1 0 0 25.1 81955 chr8 10470318 10470318 C A rs142459130 RP1L1 Nonsynonymous SNV Q430H 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 Benign 17.21 81956 chr9 5431913 5431913 A G rs75728340 PLGRKT Nonsynonymous SNV M22T 0.003 0.005 0.007 6 3 2 0.015 2 0 0 0 0 10.16 81957 chr20 60503441 60503441 G A rs142995081 CDH4 Synonymous SNV P618P 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 5.481 81958 chr9 5830903 5830903 T C rs757070166 ERMP1 Nonsynonymous SNV H155R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.99 81959 chr8 106815609 106815609 A G rs746775184 ZFPM2 Nonsynonymous SNV Q1047R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 17.77 81960 chr9 79318812 79318812 C T rs56261747 PRUNE2 Nonsynonymous SNV A2573T 0.021 0.021 0.031 10 25 8 0.026 9 0 0 0 1 0.012 81961 chr9 79318824 79318824 T C rs41288767 PRUNE2 Nonsynonymous SNV R2569G 0.021 0.021 0.031 10 25 8 0.026 9 0 0 0 1 2.95 81962 chr9 71986454 71986454 T C rs757677212 FAM189A2 Synonymous SNV L18L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.031 81963 chr9 71992373 71992373 G A rs151109207 FAM189A2 Nonsynonymous SNV A114T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 81964 chr20 60910124 60910124 T G rs79319629 LAMA5 Nonsynonymous SNV K812T 0.02 0.005 0.02 9 24 2 0.023 6 0 0 0 0 23.1 81965 chr8 110450593 110450593 G T rs117037399 PKHD1L1 Nonsynonymous SNV G1223V 0.013 0.008 0 1 15 3 0.003 0 0 0 0 0 25.4 81966 chr8 99033546 99033546 C T rs200356542 MATN2 Nonsynonymous SNV R604W 0.005 0.005 0 0 6 2 0 0 0 0 0 0 35 81967 chr8 141381103 141381103 G A rs3735804 TRAPPC9 Synonymous SNV P428P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.8 81968 chr3 142840518 142840518 G T rs142680851 CHST2 Nonsynonymous SNV R287L 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 22.9 81969 chr9 79322294 79322294 A G rs11145015 PRUNE2 Synonymous SNV D1632D 0.021 0.021 0.031 10 25 8 0.026 9 0 0 0 1 0.319 81970 chr8 142367221 142367221 G T rs141443646 GPR20 Nonsynonymous SNV P268H 0.003 0 0 0 4 0 0 0 0 0 0 0 20.6 81971 chr9 74305020 74305020 C T rs17475375 CEMIP2 Nonsynonymous SNV G1217D 0.02 0.034 0.037 13 23 13 0.033 11 0 0 0 1 20.4 81972 chr20 61438917 61438917 G A rs190940284 OGFR Nonsynonymous SNV R67Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 81973 chr8 143558852 143558852 C G rs756222087 ADGRB1 Synonymous SNV G443G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.793 81974 chr9 88611437 88611437 A G rs200918536 NAA35 Nonsynonymous SNV D334G 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 18.81 81975 chr9 100962566 100962566 G A rs137868712 TBC1D2 Nonsynonymous SNV R390C 0.014 0.01 0.007 4 16 4 0.01 2 0 0 0 0 Likely benign 35 81976 chr8 25708267 25708269 TGA - rs748347004 EBF2 S514del 0.003 0 0 0 4 0 0 0 0 0 0 0 81977 chr8 25708270 25708270 T C rs199569844 EBF2 Synonymous SNV S512S 0.003 0 0 0 4 0 0 0 0 0 0 0 2.133 81978 chr20 62153026 62153026 C T rs761944383 PPDPF Nonsynonymous SNV P47S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 81979 chr8 124266332 124266332 T G rs762770128 ZHX1 Nonsynonymous SNV K619Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 20.5 81980 chr8 144377951 144377951 C T rs140398403 ZNF696 Nonsynonymous SNV R36W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.57 81981 chr8 27764756 27764756 G A rs757438391 SCARA5 Synonymous SNV P335P 0.004 0 0 0 5 0 0 0 0 0 0 0 11.56 81982 chr9 95609564 95609564 C T rs3739602 ZNF484 Nonsynonymous SNV G466D 0.005 0.003 0.007 3 6 1 0.008 2 0 0 1 0 25.3 81983 chr9 95993215 95993215 C T rs34976687 WNK2 Synonymous SNV S300S 0.026 0.039 0.031 6 31 15 0.015 9 0 0 0 0 13.38 81984 chr20 62194304 62194304 C T rs202026638 HELZ2 Synonymous SNV A1388A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.48 81985 chr8 30651532 30651532 T C rs113782797 PPP2CB Synonymous SNV P213P 0.009 0.01 0.01 6 10 4 0.015 3 0 0 0 0 8.591 81986 chr3 161147228 161147228 C T rs774465922 LINC02067 0 0 0.211 0 0 0 0 62 0 0 0 0 14.27 81987 chr9 84302311 84302311 A G rs147523347 TLE1 Synonymous SNV T21T 0.004 0.008 0.007 7 5 3 0.018 2 0 0 0 0 Benign 0.97 81988 chr9 98278940 98278940 C G rs73527759 PTCH1 Nonsynonymous SNV D55H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 11.27 81989 chr9 894036 894036 T C rs16925431 DMRT1 Synonymous SNV Y63Y 0.023 0.013 0.017 5 27 5 0.013 5 0 0 0 0 0.082 81990 chr9 111656228 111656228 T A rs2230798 ELP1 Nonsynonymous SNV K603I 0.013 0.016 0.003 6 15 6 0.015 1 0 0 0 0 Benign/Likely benign 31 81991 chr3 16535345 16535345 C T rs371904201 RFTN1 Nonsynonymous SNV R11H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 81992 chr3 165491177 165491177 C - rs535319263 BCHE G601Vfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 81993 chr9 90500189 90500189 C G rs77127003 SPATA31E1 Nonsynonymous SNV L263V 0.021 0.021 0.01 10 25 8 0.026 3 0 0 0 0 0.065 81994 chr9 99285693 99285693 G T rs7867765 CDC14B Synonymous SNV T328T 0.006 0 0.01 2 7 0 0.005 3 0 0 0 0 3.414 81995 chr8 35541109 35541109 C T rs374876822 UNC5D Synonymous SNV D200D 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 13.11 81996 chr9 99296250 99296250 A G rs16911114 CDC14B Nonsynonymous SNV I265T 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 26.3 81997 chr8 12946205 12946205 T C DLC1 Synonymous SNV E850E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.053 81998 chr9 99417000 99417000 C T rs9886834 PRXL2C Nonsynonymous SNV R83K 0.008 0 0.01 2 9 0 0.005 3 0 0 0 0 0.848 81999 chr9 90588873 90588873 C G rs150927336 CDK20 Nonsynonymous SNV E51D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 82000 chr9 99798889 99798889 A G rs150479825 CTSV Synonymous SNV N179N 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Benign 2.195 82001 chr20 62496735 62496735 A G rs200018733 TPD52L2 Nonsynonymous SNV Q6R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 82002 chr8 144899293 144899295 AGG - rs753923608 PUF60 P343del 0 0 0 2 0 0 0.005 0 0 0 0 0 82003 chr3 167245750 167245750 C A rs147197491 WDR49 Nonsynonymous SNV R469I 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 23.1 82004 chr9 94172147 94172147 G A rs149214456 NFIL3 Synonymous SNV D290D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.952 82005 chr3 167742354 167742356 TCC - rs144680891 GOLIM4 E578del 0.011 0 0.01 1 13 0 0.003 3 0 0 0 0 82006 chr8 145003629 145003629 - CAGCGG rs782308502 PLEC L997_D998insPL 0.003 0.003 0 0 3 1 0 0 0 0 0 0 82007 chrX 100911906 100911906 G C rs61742255 ARMCX2 Synonymous SNV P223P 0.003 0 0 0 4 0 0 0 1 0 0 0 7.388 82008 chr9 113208119 113208119 G A rs115359845 SVEP1 Synonymous SNV N1487N 0.013 0.013 0.031 3 15 5 0.008 9 0 0 0 0 12.06 82009 chr9 96021571 96021571 C T rs764191432 WNK2 Nonsynonymous SNV A914V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.96 82010 chrX 101139438 101139438 C A rs139010664 ZMAT1 Nonsynonymous SNV D321Y 0.003 0 0 0 4 0 0 0 1 0 0 0 24.1 82011 chr3 17051661 17051661 A G PLCL2 Nonsynonymous SNV M149V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 82012 chrX 102564698 102564698 T C rs145955701 BEX2 Nonsynonymous SNV I101M 0.003 0 0 0 4 0 0 0 1 0 0 0 0.008 82013 chrX 102564701 102564701 G A rs139871389 BEX2 Synonymous SNV D100D 0.003 0 0 0 4 0 0 0 1 0 0 0 8.175 82014 chrX 102979095 102979095 A C rs61732248 GLRA4 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 0.008 82015 chr9 96870198 96870198 C T rs61734082 PTPDC1 Nonsynonymous SNV T800I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.86 82016 chr8 41529906 41529906 T A ANK1 Nonsynonymous SNV T1688S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 82017 chrX 103359334 103359334 C T rs61745269 ZCCHC18 Nonsynonymous SNV L178F 0.005 0 0 0 6 0 0 0 2 0 0 0 3.592 82018 chr8 41552149 41552149 C T rs140964621 ANK1 Synonymous SNV P1096P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.32 82019 chrX 104465027 104465027 C A rs149930638 TEX13A Nonsynonymous SNV A19S 0.003 0 0 0 4 0 0 0 1 0 0 0 12.67 82020 chrX 106843829 106843829 C G rs185843306 FRMPD3 Nonsynonymous SNV P887A 0.009 0.008 0 2 10 3 0.005 0 3 1 0 1 0.001 82021 chr8 145608339 145608339 G A rs146980388 ADCK5 Synonymous SNV A58A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.872 82022 chr21 30699017 30699017 C T rs372287138 BACH1 Nonsynonymous SNV T291M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 82023 chr3 180328142 180328142 C A rs140017734 TTC14 Nonsynonymous SNV Q709K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 82024 chrX 114398338 114398338 T G rs377500680 LRCH2 Nonsynonymous SNV K455T 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 23.6 82025 chrX 115945146 115945146 C T LOC100126447 0.001 0 0 0 1 0 0 0 0 0 0 0 2.359 82026 chr3 182988652 182988652 T G B3GNT5 Nonsynonymous SNV L356V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 82027 chrX 108708473 108708473 T C rs139194214 GUCY2F Synonymous SNV A310A 0.006 0.003 0.003 1 7 1 0.003 1 2 0 0 0 Benign 5.08 82028 chr9 117118375 117118375 G C AKNA Nonsynonymous SNV P844R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.2 82029 chr8 145158456 145158456 C T rs938564406 SHARPIN Synonymous SNV A67A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.68 82030 chr21 33726265 33726265 A G rs189036928 URB1 Nonsynonymous SNV L798P 0.016 0.003 0.017 3 19 1 0.008 5 0 0 0 0 20.7 82031 chr3 183525519 183525519 G A rs263028 YEATS2-AS1 0 0 0.201 0 0 0 0 59 0 0 25 0 3.344 82032 chr8 146278000 146278000 C T rs139779460 C8orf33 Nonsynonymous SNV A12V 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 17.09 82033 chr8 69381053 69381053 G A rs61736081 C8orf34 Nonsynonymous SNV R245Q 0.009 0.016 0.007 6 10 6 0.015 2 0 0 0 0 27.4 82034 chr21 34969609 34969609 C A rs111332667 CRYZL1 Nonsynonymous SNV V259L 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23 82035 chrX 129518716 129518716 G C rs41310452 GPR119 Nonsynonymous SNV L236V 0.01 0.005 0.017 3 12 2 0.008 5 2 1 1 1 Likely benign 16.96 82036 chr3 184098193 184098193 A C rs1920128 CHRD Synonymous SNV P29P 0 0 0.061 0 0 0 0 18 0 0 8 0 0.043 82037 chr21 37442727 37442727 C T rs41540212 LOC100133286 0.012 0.003 0.014 6 14 1 0.015 4 0 0 0 0 6.154 82038 chrX 133988145 133988145 A - rs769739855 FAM122C T157Rfs*9 0.022 0.023 0.003 9 26 9 0.023 1 5 4 0 3 82039 chrX 129149937 129149937 C T rs7061871 BCORL1 Synonymous SNV A1063A 0.005 0.003 0.007 4 6 1 0.01 2 2 0 1 1 6.133 82040 chr8 74922320 74922320 G A rs199848357 LY96 Nonsynonymous SNV R66Q 0.004 0 0 3 5 0 0.008 0 0 0 0 0 22.7 82041 chrX 129150144 129150144 C G rs7062200 BCORL1 Synonymous SNV L1132L 0.01 0.01 0.014 4 12 4 0.01 4 3 0 2 1 1.945 82042 chr8 77775449 77775451 CCT - rs199874527 ZFHX4 P3173del 0.006 0 0 2 7 0 0.005 0 0 0 0 0 82043 chr3 187388048 187388048 G A rs35603672 SST Nonsynonymous SNV A11V 0.003 0.01 0.014 1 4 4 0.003 4 0 0 0 0 19.84 82044 chr20 23016735 23016735 G C rs748748744 SSTR4 Synonymous SNV P205P 0.013 0.005 0 5 15 2 0.013 0 0 0 0 0 9.253 82045 chr8 2037875 2037875 G A rs2294062 MYOM2 Synonymous SNV T563T 0.039 0.016 0.031 8 46 6 0.021 9 0 0 1 0 9.362 82046 chr3 189700849 189700849 C G rs769955962 P3H2 Nonsynonymous SNV R256P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 82047 chr8 2044115 2044115 G A rs781113846 MYOM2 Synonymous SNV T718T 0.006 0 0 0 7 0 0 0 0 0 0 0 2.819 82048 chr21 43166771 43166771 A G rs146341788 RIPK4 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 82049 chrX 14927058 14927058 C T rs147747691 MOSPD2 Synonymous SNV V155V 0.02 0.034 0.027 6 24 13 0.015 8 4 3 3 2 12.93 82050 chr21 43274844 43274844 C T rs116907174 PRDM15 Synonymous SNV A160A 0.02 0.029 0.068 10 24 11 0.026 20 1 0 0 0 14.89 82051 chr8 22414286 22414286 G T rs375258629 SORBS3 Nonsynonymous SNV K93N 0.003 0 0 0 4 0 0 0 0 0 0 0 25.1 82052 chrX 140985243 140985243 G T rs143730187 MAGEC3 Nonsynonymous SNV V269F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.39 82053 chr8 22473224 22473224 T C rs6558165 CCAR2 Synonymous SNV D469D 0.028 0.036 0.054 7 33 14 0.018 16 0 0 0 0 0.319 82054 chrX 140993702 140993702 C T rs147161343 MAGEC1 Nonsynonymous SNV S171F 0.003 0.005 0 0 3 2 0 0 1 0 0 0 0.148 82055 chr8 22473281 22473281 C G rs6558166 CCAR2 Synonymous SNV T488T 0.028 0.036 0.058 7 33 14 0.018 17 0 0 0 0 6.009 82056 chrX 140994142 140994142 C A rs111809877 MAGEC1 Nonsynonymous SNV L318I 0.003 0.005 0.01 1 3 2 0.003 3 0 0 1 0 0.003 82057 chr8 1842613 1842613 C G rs150372520 ARHGEF10 Nonsynonymous SNV L401V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 82058 chr3 194371904 194371904 G A rs201162082 LSG1 Synonymous SNV T405T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 82059 chr9 128061222 128061222 A G GAPVD1 Nonsynonymous SNV T8A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 15.04 82060 chr20 30616835 30616835 G A rs6089151 CCM2L Nonsynonymous SNV G391S 0.026 0.039 0.027 15 31 15 0.038 8 0 0 0 0 16.7 82061 chr21 36042463 36042492 GCGTAGAAGCGGGGGTCCCGGCGGGGGACA - rs557556798 CLIC6 G263_A272del 0.02 0.039 0.02 11 23 15 0.028 6 6 6 0 1 82062 chr8 19681385 19681385 C T rs755015774 INTS10 Synonymous SNV G222G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.29 82063 chr20 31531480 31531480 G A rs965629208 EFCAB8 Synonymous SNV T943T 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 12.62 82064 chr3 195518131 195518131 A G rs766631700 MUC4 Nonsynonymous SNV V107A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.027 82065 chr9 104500235 104500235 C A rs574383844 GRIN3A Synonymous SNV L9L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.6 82066 chrX 153032597 153032597 C T rs782011095 PLXNB3 Synonymous SNV A105A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.709 82067 chr9 130830680 130830680 T C SLC25A25 Nonsynonymous SNV S28P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 8.797 82068 chr9 107457126 107457126 A G rs139937095 OR13D1 Nonsynonymous SNV T142A 0.007 0.005 0.007 7 8 2 0.018 2 0 0 0 0 23 82069 chr8 22052390 22052390 G C rs146615409 BMP1 Nonsynonymous SNV G533R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 82070 chr8 145727238 145727238 G T rs371263663 PPP1R16A Synonymous SNV P513P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.981 82071 chrX 153220639 153220639 C T rs190844812 HCFC1 Nonsynonymous SNV V1071M 0 0.008 0 0 0 3 0 0 0 1 0 0 Uncertain significance 17.3 82072 chr8 22421992 22421992 G A rs142694846 SORBS3 Synonymous SNV P258P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 82073 chr9 108287458 108287458 C T rs3852400 RALGAPA1P1 0.002 0.005 0.017 1 2 2 0.003 5 0 0 0 0 6.499 82074 chr8 22471795 22471795 A G CCAR2 Nonsynonymous SNV T299A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 82075 chr8 17228583 17228583 G A rs375736882 MTMR7 Synonymous SNV H91H 0.006 0 0 0 7 0 0 0 0 0 0 0 4.026 82076 chrX 15381421 15381421 C T rs12011065 VEGFD Synonymous SNV L37L 0.047 0.049 0.027 17 55 19 0.044 8 18 3 3 7 3.951 82077 chr9 112778238 112778238 C T rs201756748 PALM2AKAP2 Synonymous SNV V167V 0.003 0 0 0 4 0 0 0 0 0 0 0 12.85 82078 chr9 131696121 131696121 G A rs756034640 PHYHD1 Nonsynonymous SNV V85I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 82079 chr3 31871578 31871578 C T rs146089422 OSBPL10 Nonsynonymous SNV R228Q 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 28.8 82080 chrX 21674020 21674020 G A rs142552568 KLHL34 Synonymous SNV D629D 0 0.003 0 3 0 1 0.008 0 0 0 0 1 0.015 82081 chr3 33165922 33165922 G A rs572086683 CRTAP Nonsynonymous SNV R215Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 82082 chr9 113341341 113341341 G C rs376244284 SVEP1 Synonymous SNV S161S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.454 82083 chrX 2928125 2928125 C T rs79487908 ARSH Synonymous SNV L49L 0.044 0.026 0.037 31 52 10 0.079 11 10 2 4 10 Benign 8.077 82084 chr20 42143936 42143936 G A rs145435727 L3MBTL1 Nonsynonymous SNV V130I 0.013 0.016 0.003 4 15 6 0.01 1 0 0 0 0 Benign 24.8 82085 chr8 2092835 2092835 C T rs201286207 MYOM2 Nonsynonymous SNV P1443L 0.008 0.008 0.007 5 9 3 0.013 2 0 1 0 0 29.9 82086 chr3 38158032 38158032 G A rs189662152 DLEC1 Synonymous SNV P1318P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.303 82087 chr9 114986152 114986152 G C rs41280173 PTBP3 Synonymous SNV S451S 0.015 0.01 0.003 7 18 4 0.018 1 0 0 0 0 0.507 82088 chr8 37707199 37707199 C G rs138044288 BRF2 Nonsynonymous SNV V35L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.07 82089 chr20 43572217 43572217 T C rs1804644 TOMM34 Synonymous SNV A234A 0.038 0.031 0.051 19 45 12 0.049 15 0 0 1 1 5.008 82090 chr8 38260050 38260050 C T rs145121919 LETM2 Nonsynonymous SNV A283V 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 27.7 82091 chr3 38798317 38798317 C T rs142276689 SCN10A Nonsynonymous SNV V380I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.5 82092 chrX 36403029 36403029 C T CFAP47 Nonsynonymous SNV R3158C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 82093 chr22 18562734 18562734 T C rs45567240 PEX26 Nonsynonymous SNV Y109H 0.018 0.016 0 7 21 6 0.018 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.86 82094 chrX 5811530 5811530 G C rs3747334 NLGN4X Synonymous SNV L593L 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Benign 2.046 82095 chrX 63413032 63413032 G A rs34504794 AMER1 Synonymous SNV S45S 0.03 0.029 0.034 11 35 11 0.028 10 6 3 3 3 0.068 82096 chrX 65417719 65417719 G A rs35835670 HEPH Nonsynonymous SNV G299S 0.011 0.018 0.034 7 13 7 0.018 10 3 1 4 2 Benign 5.699 82097 chr22 19435270 19435270 - A rs572411282 C22orf39 Frameshift insertion S18Ffs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 82098 chr22 19455430 19455430 G C rs17744624 UFD1 Nonsynonymous SNV P130A 0.012 0.005 0.014 5 14 2 0.013 4 0 0 0 0 14.79 82099 chrX 68382462 68382462 G A PJA1 Nonsynonymous SNV S152L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.38 82100 chrX 69385725 69385725 A G rs200686056 IGBP1 Nonsynonymous SNV E213G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 82101 chrX 69457046 69457046 G A rs146485454 AWAT1 Synonymous SNV T136T 0.032 0.047 0.017 28 37 18 0.072 5 9 5 2 9 12.66 82102 chr8 52320710 52320710 A T rs149385606 PXDNL Synonymous SNV V1158V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.003 82103 chr3 405202 405202 A T rs2387180 CHL1-AS1 0 0 0.252 0 0 0 0 74 0 0 37 0 3.668 82104 chr9 117063568 117063568 C T rs760817020 COL27A1 Nonsynonymous SNV P1587L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 82105 chr8 33408901 33408901 C G rs3735949 RNF122 Synonymous SNV L63L 0.032 0.042 0.061 16 38 16 0.041 18 3 0 1 2 10.89 82106 chrX 54048766 54048766 A T rs148664730 PHF8 Nonsynonymous SNV D109E 0.005 0.008 0.003 0 6 3 0 1 1 1 0 0 Benign/Likely benign 16.98 82107 chr22 21998346 21998346 G A rs111993817 SDF2L1 Nonsynonymous SNV R183H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 82108 chrX 55035701 55035701 C T rs145704441 ALAS2 Nonsynonymous SNV R522H 0.003 0.008 0 0 4 3 0 0 0 1 0 0 Benign/Likely benign 15.56 82109 chr8 42611568 42611568 G A rs141129760 CHRNA6 Synonymous SNV T243T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.982 82110 chr22 22868638 22868638 C T rs200841139 ZNF280A Nonsynonymous SNV M439I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.365 82111 chrX 8538589 8538589 C T ANOS1 Nonsynonymous SNV S338N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.274 82112 chrX 69282968 69282968 C T rs144364776 OTUD6A Synonymous SNV F198F 0.01 0.013 0.007 7 12 5 0.018 2 5 1 1 2 Benign 10.85 82113 chr8 27145272 27145272 C T TRIM35 Nonsynonymous SNV R426H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.8 82114 chr8 54142010 54142010 G A rs77333617 OPRK1 Synonymous SNV Y330Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.462 82115 chr9 125289117 125289117 G A rs141426616 OR1N1 Synonymous SNV I152I 0.003 0 0 0 4 0 0 0 0 0 0 0 9.426 82116 chr8 55539790 55539790 C T RP1 Synonymous SNV P1116P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.074 82117 chrX 99955925 99955925 T C rs16983588 SYTL4 Synonymous SNV R169R 0.008 0.005 0.014 1 9 2 0.003 4 1 0 2 0 0.005 82118 chr8 56866452 56866452 G A rs2227980 LYN Synonymous SNV K212K 0.02 0.031 0.027 8 23 12 0.021 8 0 0 0 0 15.78 82119 chr10 100018803 100018803 G A LOXL4 Nonsynonymous SNV P295L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.034 82120 chr9 139262205 139262205 C G rs3124993 CARD9 Nonsynonymous SNV V385L 0.014 0.01 0.01 3 16 4 0.008 3 0 0 0 0 Benign/Likely benign 5.389 82121 chrX 71416721 71416721 C T rs11415 PIN4 Synonymous SNV A93A 0.049 0.047 0.051 32 58 18 0.082 15 14 3 7 11 17.82 82122 chr8 72959383 72959383 A G rs143973551 TRPA1 Synonymous SNV Y655Y 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Likely benign 0.009 82123 chr8 61655009 61655009 A G rs41305525 CHD7 Nonsynonymous SNV M340V 0.01 0.008 0.017 5 12 3 0.013 5 0 0 0 0 Benign/Likely benign 2.014 82124 chrX 75004176 75004176 C T rs41306137 MAGEE2 Synonymous SNV E237E 0.009 0.013 0 0 11 5 0 0 1 2 0 0 Benign 12.09 82125 chr3 46965111 46965111 C T rs33983156 CCDC12 Nonsynonymous SNV V98I 0.027 0.016 0.037 10 32 6 0.026 11 0 0 0 1 7.5 82126 chrX 78011287 78011287 C T LPAR4 Synonymous SNV D307D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.175 82127 chrX 84349941 84349941 G A rs141349825 SATL1 Synonymous SNV N585N 0.043 0.042 0.031 27 50 16 0.069 9 11 3 3 9 2.07 82128 chr3 47129609 47129609 G A rs144825663 SETD2 Synonymous SNV L1713L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.44 82129 chr8 74888639 74888639 C T TMEM70 Synonymous SNV S41S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.202 82130 chr9 139391321 139391321 G A rs61751488 NOTCH1 Synonymous SNV S2290S 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Benign/Likely benign 0.516 82131 chr10 102766505 102766505 G A rs145739826 LZTS2 Synonymous SNV L310L 0.012 0.016 0 7 14 6 0.018 0 0 0 0 0 9.656 82132 chr9 139618076 139618076 C T rs149254034 DIPK1B Synonymous SNV P382P 0.007 0.01 0.01 1 8 4 0.003 3 0 0 0 0 15.47 82133 chr10 104650305 104650305 G A rs200456819 AS3MT Nonsynonymous SNV G297D 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 18.21 82134 chr9 126144759 126144759 G A rs149353656 DENND1A Nonsynonymous SNV S672L 0.013 0.005 0.007 1 15 2 0.003 2 0 0 0 0 Benign 0.051 82135 chr8 79590851 79590851 T C rs151313589 ZC2HC1A Synonymous SNV F49F 0.01 0.01 0.003 4 12 4 0.01 1 0 0 0 0 6.748 82136 chr3 49064126 49064126 C T rs149047226 IMPDH2 Synonymous SNV V271V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 82137 chr8 37963932 37963932 G A rs759550168 ASH2L Synonymous SNV E75E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 82138 chr9 127693666 127693666 G C rs150824292 GOLGA1 Nonsynonymous SNV S52C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 82139 chr10 100183373 100183373 T C rs569192835 HPS1 Nonsynonymous SNV I409V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.678 82140 chr3 49736199 49736199 G A rs143394687 RNF123 Synonymous SNV A194A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 82141 chr9 130151201 130151201 A G rs376802505 GARNL3 Nonsynonymous SNV N849S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.62 82142 chr10 101636917 101636917 C T rs11190304 DNMBP Synonymous SNV E1207E 0.009 0.016 0.014 1 10 6 0.003 4 0 0 0 0 12.36 82143 chr22 29965276 29965276 C T NIPSNAP1 Synonymous SNV T71T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 82144 chr22 30038259 30038259 C T NF2 Synonymous SNV Y61Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 82145 chr8 41571692 41571692 G T rs61753679 ANK1 Synonymous SNV S594S 0.022 0.023 0.007 7 26 9 0.018 2 1 0 0 0 Benign/Likely benign 4.966 82146 chr3 50375606 50375606 - C rs3840490 RASSF1-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 82147 chr3 51970311 51970311 G A RRP9 Nonsynonymous SNV H233Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 82148 chr3 5216072 5216072 A G rs142243427 ARL8B Nonsynonymous SNV I162V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 20.9 82149 chr8 623595 623595 C T rs78767199 ERICH1 Nonsynonymous SNV A253T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.022 82150 chr20 61443878 61443878 T C OGFR Nonsynonymous SNV L304P 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 0.098 82151 chr20 61444606 61444665 GCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG - OGFR R565_P584del 0.013 0.01 0.024 6 15 4 0.015 7 3 1 1 2 82152 chr22 31285704 31285704 T G rs146369673 LOC107985544 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 7.07 82153 chr10 115439556 115439556 G C rs749820659 CASP7 Nonsynonymous SNV A15P 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 1.878 82154 chr8 65494199 65494199 C T rs147627273 BHLHE22 Synonymous SNV A284A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 11.94 82155 chr8 65711089 65711089 A G rs72554624 CYP7B1 Nonsynonymous SNV L19P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 14.64 82156 chr9 131859565 131859565 C T rs142099725 CRAT Synonymous SNV R497R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.34 82157 chr9 132382043 132382043 T C rs139758889 C9orf50 Nonsynonymous SNV N192S 0.013 0.013 0.007 4 15 5 0.01 2 1 0 0 0 0.017 82158 chr8 68070724 68070724 C A rs760013419 CSPP1 Nonsynonymous SNV L412M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 82159 chr10 116659261 116659261 T C FAM160B1 Synonymous SNV P735P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.003 82160 chr9 14863863 14863863 A G rs61740262 FREM1 Synonymous SNV Y91Y 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 Benign 0.888 82161 chr3 53857856 53857856 C T rs377439231 CHDH Synonymous SNV T60T 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 9.168 82162 chr9 14868931 14868931 C A rs61747529 FREM1 Synonymous SNV L15L 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 Benign 14.92 82163 chr8 6914169 6914169 G A rs147432781 DEFA5 Synonymous SNV A17A 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 6.515 82164 chr8 98041637 98041637 G A rs148684432 CPQ Nonsynonymous SNV R323H 0.007 0.005 0 10 8 2 0.026 0 0 0 0 1 24.4 82165 chr9 15307250 15307250 T C rs369767250 TTC39B Synonymous SNV R24R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.5 82166 chr9 15578885 15578885 C T rs34754760 CCDC171 Synonymous SNV S72S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.99 82167 chr10 11797475 11797475 C T rs202207495 ECHDC3 Synonymous SNV A153A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.1 82168 chr3 57291322 57291322 A G rs761918738 APPL1 Synonymous SNV G432G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 82169 chr9 100116970 100116970 A G rs41281932 CCDC180 Nonsynonymous SNV K1085R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 82170 chr8 75171682 75171682 C T rs150505162 JPH1 Nonsynonymous SNV R399H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.5 82171 chr9 100426712 100426712 C T rs199656608 NCBP1 Nonsynonymous SNV R260C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 82172 chr9 134471746 134471746 C T rs376059393 RAPGEF1 Synonymous SNV P707P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.32 82173 chr10 122334686 122334686 C T rs371267002 PLPP4 Stop gain Q122X 0 0.008 0 0 0 3 0 0 0 0 0 0 13.03 82174 chr9 26998211 26998211 T - rs575764239 LRRC19 N37Ifs*4 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 82175 chr8 87486541 87486543 TTC - rs529480556 RMDN1 K270del 0.012 0.003 0 4 14 1 0.01 0 0 0 0 0 82176 chr9 101570206 101570206 G A GALNT12 Nonsynonymous SNV G76S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 28.1 82177 chr3 69097140 69097140 C T rs73110228 TMF1 Nonsynonymous SNV S239N 0.019 0.021 0.007 3 22 8 0.008 2 0 0 0 0 6.304 82178 chr22 38044341 38044341 C T rs118183308 SH3BP1 Synonymous SNV F405F 0.035 0.055 0.02 20 41 21 0.051 6 1 1 0 1 19 82179 chr8 91940508 91940508 T C NECAB1 Nonsynonymous SNV I225T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28 82180 chr3 81627092 81627092 G A GBE1 Synonymous SNV G534G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 82181 chr3 81720029 81720029 T A rs927690773 GBE1 Nonsynonymous SNV Q130L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.719 82182 chr3 81720031 81720031 C A rs757945104 GBE1 Nonsynonymous SNV K129N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.372 82183 chr9 1056398 1056398 C G rs72703236 DMRT2 Nonsynonymous SNV P97A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 24.6 82184 chr3 86114765 86114765 T C rs139890320 CADM2 Synonymous SNV A358A 0.009 0.008 0.01 6 11 3 0.015 3 0 0 0 0 Benign 4.792 82185 chr9 1056732 1056732 G A rs72703237 DMRT2 Nonsynonymous SNV R208Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 6.534 82186 chr22 38642025 38642025 C G TMEM184B Nonsynonymous SNV A92P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 82187 chr3 98002319 98002319 C - rs775762819 OR5H2 P197Lfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 82188 chr10 118439206 118439206 T C rs61753067 HSPA12A Nonsynonymous SNV E365G 0.006 0.018 0.017 5 7 7 0.013 5 0 0 1 0 15.42 82189 chr9 116132364 116132364 C T rs62620170 BSPRY Nonsynonymous SNV P389L 0.019 0.018 0.007 4 22 7 0.01 2 0 0 0 0 6.937 82190 chr10 120801896 120801896 G A rs141022993 EIF3A Nonsynonymous SNV R1046W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 34 82191 chr22 40711504 40711504 C T rs371024839 TNRC6B Synonymous SNV L1522L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.78 82192 chr9 100116839 100116849 GATTATTTTCA - rs779602510 CCDC180 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 82193 chr9 117266853 117266853 T A rs56204273 WHRN Nonsynonymous SNV T77S 0.014 0.018 0.014 2 17 7 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 17.16 82194 chr9 139089321 139089321 G A LHX3 Synonymous SNV P337P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.298 82195 chr4 100575791 100575791 A T rs531295292 C4orf54 Nonsynonymous SNV H5Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23 82196 chr4 106647986 106647986 T C rs753252314 GSTCD Nonsynonymous SNV M382T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 82197 chr10 134145183 134145183 G A rs756909510 STK32C Stop gain Q20X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 82198 chr10 124390721 124390721 T C rs72836136 DMBT1 Synonymous SNV T1333T 0.027 0.034 0.034 6 32 13 0.015 10 0 0 0 0 0.041 82199 chr9 123249579 123249579 A C rs138242197 CDK5RAP2 Nonsynonymous SNV F540C 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 22.7 82200 chr10 134659573 134659573 G A rs34588833 CFAP46 Synonymous SNV A2142A 0.019 0.01 0.007 8 22 4 0.021 2 2 1 1 0 7.176 82201 chr10 134671094 134671094 G C rs73391289 CFAP46 Nonsynonymous SNV D1858E 0.023 0.021 0.041 9 27 8 0.023 12 2 1 1 0 0.001 82202 chr9 123367646 123367646 C T rs185776336 MEGF9 Nonsynonymous SNV R544Q 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 33 82203 chr4 1107200 1107200 G C rs201230381 RNF212 Nonsynonymous SNV S18W 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 25.6 82204 chr10 134748281 134748281 G A rs74460040 CFAP46 Nonsynonymous SNV R281C 0.019 0.023 0.041 6 22 9 0.015 12 0 1 0 0 14.83 82205 chr9 116259673 116259673 G A rs746268190 RGS3 Nonsynonymous SNV R167Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24 82206 chr9 139741579 139741579 G A AJM1 Nonsynonymous SNV E905K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.4 82207 chr10 134974003 134974003 T C rs141089126 KNDC1 Nonsynonymous SNV L11P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 9.057 82208 chr22 44285258 44285258 G A rs62621223 PNPLA5 Nonsynonymous SNV T104I 0.006 0 0 2 7 0 0.005 0 0 0 0 0 15.41 82209 chr9 139835599 139835599 G T FBXW5 Stop gain Y494X 0.003 0 0 0 3 0 0 0 0 0 0 0 40 82210 chr22 44285312 44285312 G A rs10428037 PNPLA5 Nonsynonymous SNV T86I 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.386 82211 chr9 124461666 124461666 C T rs200769141 DAB2IP Synonymous SNV D69D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 12.03 82212 chr4 114264197 114264197 G A rs764532145 ANK2 Nonsynonymous SNV V559I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 82213 chr4 115544222 115544222 C T rs143201929 UGT8 Synonymous SNV I62I 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 15.48 82214 chr4 115997847 115997847 C A rs145767700 NDST4 Nonsynonymous SNV D116Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.5 82215 chr22 44579253 44579253 G C rs146468235 PARVG Nonsynonymous SNV G15A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.001 82216 chr10 135204849 135204849 C T rs757884971 PAOX Nonsynonymous SNV S423L 0 0.003 0 0 0 1 0 0 0 0 0 0 35 82217 chr9 113275357 113275357 G A rs61998196 SVEP1 Synonymous SNV P384P 0.026 0.026 0.031 4 31 10 0.01 9 0 0 0 0 13.35 82218 chr10 129905906 129905906 C A rs138888836 MKI67 Nonsynonymous SNV V1040L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 8.81 82219 chr9 113509947 113509947 T C rs886063353 MUSK Synonymous SNV S260S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 7.354 82220 chr9 86616936 86616936 C T rs746566235 RMI1 Synonymous SNV A345A 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 5.663 82221 chr9 126133464 126133464 C T rs151243935 CRB2 Synonymous SNV S681S 0.012 0.016 0.003 6 14 6 0.015 1 0 0 0 0 Benign 9.075 82222 chr22 46930798 46930798 T C rs199864223 CELSR1 Nonsynonymous SNV Q757R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.27 82223 chr10 16526388 16526388 C T rs905547187 PTER Nonsynonymous SNV S2F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 82224 chr9 123580307 123580307 G A rs144855496 PSMD5 Synonymous SNV A421A 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 11.53 82225 chr9 141014749 141014749 C T rs768496399 CACNA1B Nonsynonymous SNV R2055C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.8 82226 chr9 94812346 94812346 T C rs139086093 SPTLC1 Nonsynonymous SNV K262E 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Uncertain significance 12.52 82227 chr10 18254546 18254546 C G rs745639096 SLC39A12 Nonsynonymous SNV N92K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 82228 chr10 134627760 134627760 T C rs41306834 CFAP46 0.001 0.008 0.01 3 1 3 0.008 3 0 0 0 0 19.83 82229 chr9 95411761 95411761 G A rs75957544 IPPK Nonsynonymous SNV R130W 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 25.9 82230 chr10 134682781 134682781 G A rs139662727 CFAP46 Nonsynonymous SNV A1536V 0 0.005 0.014 3 0 2 0.008 4 0 0 0 0 16.12 82231 chr10 134736154 134736154 C T rs371851974 CFAP46 Nonsynonymous SNV E439K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 82232 chr9 17486992 17486992 T G rs62639687 CNTLN Nonsynonymous SNV I1348M 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 0.22 82233 chr9 96079885 96079885 C T rs767417874 WNK2 Synonymous SNV A2200A 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 13.82 82234 chr4 139966508 139966508 C T rs141093326 NOCT Synonymous SNV L392L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.001 82235 chr22 50703767 50703767 G A rs202228682 MAPK11 Nonsynonymous SNV T333M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 82236 chr22 50724290 50724290 A C rs267606288 PLXNB2 Nonsynonymous SNV V676G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 82237 chr9 117267049 117267049 G C rs45527543 WHRN Nonsynonymous SNV S11R 0.012 0.005 0 5 14 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 82238 chr4 141543915 141543915 C T rs201150614 TBC1D9 Nonsynonymous SNV G1079R 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 6.39 82239 chr9 19786015 19786015 C T rs147283325 SLC24A2 Nonsynonymous SNV V284I 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 21.6 82240 chr10 135085731 135085731 G A rs368130036 ADAM8 Nonsynonymous SNV A269V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 82241 chr22 50943866 50943866 A C rs141737208 LMF2 Synonymous SNV V314V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.047 82242 chr4 145916539 145916539 G A rs756072041 ANAPC10 Nonsynonymous SNV R182C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 82243 chr10 135106172 135106172 C T rs145003131 TUBGCP2 Nonsynonymous SNV E219K 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 19.55 82244 chr22 50964763 50964763 G A rs772042113 TYMP Synonymous SNV A357A 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign/Likely benign 12.05 82245 chrX 2951348 2951348 A G rs61978642 ARSH Synonymous SNV P537P 0.06 0.049 0.071 15 71 19 0.038 21 22 5 6 3 Likely benign 0.993 82246 chrX 3002475 3002475 A G rs112461718 ARSF Nonsynonymous SNV I200V 0.057 0.057 0.068 15 67 22 0.038 20 20 6 7 4 0.001 82247 chr9 131940053 131940053 T C rs145305361 IER5L Synonymous SNV Q93Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.211 82248 chr9 123875950 123875950 C A CNTRL Synonymous SNV G431G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.491 82249 chr9 124088908 124088908 C G rs77681311 GSN Nonsynonymous SNV T563S 0.03 0.042 0.037 17 35 16 0.044 11 1 0 0 0 Likely benign 21.8 82250 chr9 124089692 124089692 C T rs76463933 GSN Nonsynonymous SNV T616M 0.03 0.042 0.034 17 35 16 0.044 10 1 0 0 0 Benign 23.6 82251 chrX 106845063 106845063 C T rs373481868 FRMPD3 Nonsynonymous SNV T1298I 0.009 0.003 0 2 10 1 0.005 0 4 0 0 1 21 82252 chrX 109694302 109694302 G A rs41304450 RTL9 Nonsynonymous SNV A153T 0.035 0.034 0.027 9 41 13 0.023 8 10 3 4 3 0.001 82253 chrX 16847765 16847765 A G rs5969783 TXLNG Nonsynonymous SNV I114V 0.014 0.01 0.024 5 16 4 0.013 7 5 1 3 1 3.207 82254 chr21 47660934 47660934 - T rs778453357 MCM3AP-AS1, MCM3AP-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 82255 chr9 134019979 134019979 C T rs140261973 NUP214 Nonsynonymous SNV A536V 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 7.869 82256 chr10 3214935 3214935 C A rs998302501 PITRM1 Nonsynonymous SNV V13L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.94 82257 chr9 34627813 34627813 C T rs140426594 ARID3C Nonsynonymous SNV G67R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.967 82258 chr9 34889444 34889444 G C rs276666 FAM205C Nonsynonymous SNV Q312E 0.004 0.008 0 0 5 3 0 0 0 0 0 0 2.861 82259 chr9 34892691 34892691 G T rs498534 FAM205C Nonsynonymous SNV T237K 0.004 0.008 0 0 5 3 0 0 0 0 0 0 1.405 82260 chr4 16258155 16258155 G A rs2940 TAPT1-AS1 0 0 0.119 0 0 0 0 35 0 0 4 0 12.67 82261 chr9 35043478 35043478 A C rs116164209 C9orf131 Synonymous SNV L249L 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 0.034 82262 chr9 35095102 35095102 G T rs142562923 PIGO Nonsynonymous SNV A154D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign/Likely benign 29.4 82263 chr10 21129748 21129748 T C rs761905318 NEBL Nonsynonymous SNV I420V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.95 82264 chr4 1657123 1657123 C T FAM53A Nonsynonymous SNV S155N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 82265 chr4 1657124 1657124 T G FAM53A Nonsynonymous SNV S155R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 82266 chr10 35928969 35928969 G A rs778436404 FZD8 Synonymous SNV D463D 0 0.005 0 0 0 2 0 0 0 0 0 0 0.907 82267 chr21 48081804 48081804 G A rs569443694 PRMT2 Synonymous SNV Q249Q 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 10.02 82268 chr9 125551226 125551226 C A OR5C1 Nonsynonymous SNV N5K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.3 82269 chr9 134501763 134501763 G A rs200549723 RAPGEF1 Synonymous SNV N416N 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.21 82270 chr4 167658622 167658622 A G rs34665704 SPOCK3 Synonymous SNV D281D 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 0.009 82271 chr9 35733402 35733402 A G rs11538707 CREB3 Nonsynonymous SNV R119G 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 7.895 82272 chrX 32361289 32361289 C T rs201302282 DMD Nonsynonymous SNV A560T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.31 82273 chr9 126794831 126794831 G A rs772563433 LHX2 Nonsynonymous SNV A356T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.8 82274 chr9 135977066 135977066 G A rs371082967 RALGDS Synonymous SNV S710S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.662 82275 chrX 36269488 36269488 T C CFAP47 Nonsynonymous SNV I2458T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.14 82276 chrX 135323343 135323343 T C rs200135363 MAP7D3 Nonsynonymous SNV M153V 0.007 0.01 0.003 3 8 4 0.008 1 1 1 0 1 0.001 82277 chr9 132614882 132614882 G A rs958847638 USP20 Synonymous SNV E16E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.326 82278 chrX 38160526 38160526 T C rs41305223 RPGR Nonsynonymous SNV N345D 0.012 0 0 0 14 0 0 0 4 0 0 0 Benign 0.473 82279 chrX 13607688 13607688 G A rs867038905 EGFL6 Nonsynonymous SNV G30R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.915 82280 chrX 48681962 48681962 G A rs371512851 HDAC6 Synonymous SNV G1051G 0.003 0 0 1 3 0 0.003 0 1 0 0 0 Benign 2.616 82281 chrX 48814658 48814658 C T rs782219255 OTUD5 Nonsynonymous SNV A59T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 82282 chrX 48919788 48919788 G C rs782774922 CCDC120 Nonsynonymous SNV R29P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.5 82283 chr9 712754 712754 T C rs111273694 KANK1 Nonsynonymous SNV M505T 0.011 0.013 0.014 1 13 5 0.003 4 0 0 0 0 Likely benign 5.881 82284 chr10 49392706 49392706 C T rs115484322 FRMPD2 Synonymous SNV L804L 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 13.47 82285 chrX 149013964 149013964 C T rs140453811 MAGEA8 Synonymous SNV S306S 0.011 0.003 0.01 4 13 1 0.01 3 5 0 1 1 11.96 82286 chr9 133972248 133972248 C T rs774289256 AIF1L Nonsynonymous SNV R31W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 82287 chr9 133995629 133995629 A G rs112844133 AIF1L Nonsynonymous SNV D101G 0.019 0.018 0.01 7 22 7 0.018 3 0 0 0 0 22.7 82288 chrX 150349151 150349151 C T rs200814649 GPR50 Nonsynonymous SNV R366W 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 82289 chr9 138830081 138830081 C T rs35005080 UBAC1 Synonymous SNV P363P 0.025 0.018 0.027 11 29 7 0.028 8 0 0 0 0 13.48 82290 chr9 134062733 134062733 T C rs61751471 NUP214 Synonymous SNV A1149A 0.019 0.018 0.01 7 22 7 0.018 3 0 0 0 0 9.656 82291 chr9 134073807 134073807 A G rs61751472 NUP214 Synonymous SNV S468S 0.019 0.018 0.01 7 22 7 0.018 3 0 0 0 0 9.912 82292 chr10 33209233 33209233 G A rs750454994 ITGB1 Synonymous SNV N403N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.58 82293 chr9 77377724 77377724 C T rs147635290 TRPM6 Nonsynonymous SNV G1283E 0.005 0.013 0 4 6 5 0.01 0 0 0 0 0 Uncertain significance 17.22 82294 chr9 139333340 139333340 C T rs376003129 INPP5E Nonsynonymous SNV V178M 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 7.481 82295 chr9 132401705 132401705 C A rs41278724 ASB6 Synonymous SNV G126G 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 8.988 82296 chr9 77377789 77377789 C T rs148075951 TRPM6 Synonymous SNV E1261E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 6.702 82297 chr9 139371150 139371150 G A rs371425476 SEC16A Synonymous SNV P306P 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.788 82298 chrX 66765159 66765161 GCA - rs778920072 AR Q80del 0.025 0.039 0.082 11 29 15 0.028 24 10 7 12 4 82299 chrX 151999254 151999254 T C rs782347070 CETN2 Star tloss M1? 0.008 0.016 0 6 9 6 0.015 0 2 2 0 2 18.24 82300 chrX 152087584 152087584 G A rs55662239 ZNF185 Synonymous SNV E28E 0.02 0.031 0.01 13 24 12 0.033 3 6 4 0 5 Benign 9.092 82301 chr10 35897513 35897513 G A rs183406069 GJD4 Nonsynonymous SNV G358S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 82302 chrX 152585776 152585776 T C PNMA6F Synonymous SNV E119E 0.008 0.016 0 6 9 6 0.015 0 2 2 0 2 1.302 82303 chrX 152771533 152771533 C T rs2070933 BGN Synonymous SNV I188I 0.014 0.026 0.02 10 16 10 0.026 6 3 3 1 3 10.55 82304 chr9 139699787 139699787 C - rs779132376 CCDC183-AS1 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 82305 chrX 153040708 153040708 G A rs150648419 PLXNB3 Nonsynonymous SNV S1395N 0.014 0.023 0.007 7 17 9 0.018 2 3 3 1 2 Benign 12.03 82306 chr10 45467292 45467292 G A rs61759871 RASSF4 Nonsynonymous SNV R45H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.3 82307 chr9 139753284 139753284 A G rs371220916 MAMDC4 Nonsynonymous SNV M979V 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 3.236 82308 chrX 77912795 77912796 GA - rs778953097 RTL3 T376Kfs*8 0.003 0.01 0 0 4 4 0 0 1 1 0 0 82309 chr9 135277136 135277136 G A rs143299954 TTF1 Nonsynonymous SNV P358L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 17.3 82310 chr10 55570347 55570347 C T rs41274622 PCDH15 Nonsynonymous SNV G1482D 0.015 0.029 0.007 5 18 11 0.013 2 1 0 0 0 Benign 23 82311 chr9 139873509 139873509 C T rs769704625 PTGDS Nonsynonymous SNV A60V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 82312 chr4 2692547 2692547 T C FAM193A Nonsynonymous SNV C594R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 82313 chr10 60588644 60588644 G A rs188926102 BICC1 Nonsynonymous SNV R973H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 26.1 82314 chr9 90586221 90586221 G A rs9410653 CDK20 Synonymous SNV H73H 0.022 0.016 0.014 5 26 6 0.013 4 0 0 0 0 Benign 2.548 82315 chr9 134955219 134955219 T C rs373202251 MED27 Nonsynonymous SNV I5V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 3.964 82316 chr10 61868812 61868812 C A rs765402364 ANK3 Synonymous SNV G117G 0 0.005 0 0 0 2 0 0 0 0 0 0 13.3 82317 chrX 103495017 103495025 GGGCGGCCC - ESX1 G369_P371del 0.001 0 0 0 1 0 0 0 0 0 0 0 82318 chrX 103495030 103495047 GGCAGAGGCGCCATGGGC - ESX1 M363_P368del 0.001 0 0 0 1 0 0 0 0 0 0 0 82319 chr9 95410393 95410393 G A rs148842309 IPPK Nonsynonymous SNV T151M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 82320 chr9 140468796 140468796 G - rs754563472 DPH7 S35Pfs*8 0.004 0 0 2 5 0 0.005 0 0 0 0 0 82321 chr9 135919278 135919278 G T rs36017796 GTF3C5 Synonymous SNV P179P 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 9.385 82322 chr9 136029474 136029474 C T rs35808997 GBGT1 Nonsynonymous SNV R172K 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 2.142 82323 chr22 29656431 29656431 C T rs138870856 RHBDD3 Stop gain W289X 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 38 82324 chr9 136199389 136199389 T G rs35316446 SURF6 Nonsynonymous SNV N201H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 24 82325 chr9 136199412 136199412 C T rs34657219 SURF6 Nonsynonymous SNV G193R 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 4.327 82326 chrX 109694932 109694932 A T rs775201044 RTL9 Nonsynonymous SNV T363S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 82327 chrX 110494493 110494493 C G CAPN6 Synonymous SNV L305L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.387 82328 chr22 30500401 30500401 G A rs147502018 HORMAD2 Nonsynonymous SNV C90Y 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 27.6 82329 chr9 136273902 136273902 C T rs28711662 REXO4 Nonsynonymous SNV S183N 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 13.35 82330 chr9 136276189 136276189 T C rs28497215 REXO4 Synonymous SNV E133E 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.026 82331 chr9 136290675 136290675 C T rs147563206 ADAMTS13 Synonymous SNV S119S 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 15.47 82332 chrX 114468596 114468596 C T LRCH2 Synonymous SNV A3A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 82333 chr4 38117338 38117338 C A TBC1D1 Synonymous SNV T855T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 82334 chrX 38145167 38145178 CCTCCCCTTCCA - rs201134185 RPGR V1025_E1028del 0.011 0.016 0 11 13 6 0.028 0 2 1 0 3 82335 chr9 139273048 139273048 G T rs573845967 SNAPC4 Synonymous SNV T1077T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.394 82336 chr9 136596451 136596451 C T rs201146600 SARDH Synonymous SNV R222R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.69 82337 chr9 137622210 137622210 G A rs370018361 COL5A1 Synonymous SNV P351P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 8.125 82338 chr9 19516280 19516280 G C rs3739480 SLC24A2 Synonymous SNV L602L 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 7.001 82339 chrX 125954900 125954900 C T rs41309536 PRR32 Synonymous SNV Y93Y 0.035 0.039 0.031 19 41 15 0.049 9 8 5 4 7 8.853 82340 chr10 71654434 71654434 C A COL13A1 Nonsynonymous SNV P165T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 82341 chr4 40045139 40045139 T C rs78190142 LOC344967 0 0 0.061 0 0 0 0 18 0 0 0 0 3.698 82342 chrX 48762076 48762076 T C rs782273947 SLC35A2 Nonsynonymous SNV T174A 0.007 0.013 0 1 8 5 0.003 0 2 2 0 0 0.005 82343 chr10 52005095 52005095 G A rs116049719 ASAH2 Stop gain Q83X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 82344 chrX 114425895 114425895 G C rs201518011 RBMXL3 Nonsynonymous SNV E631Q 0.011 0.016 0 0 13 6 0 0 4 1 0 0 21.5 82345 chrX 132548956 132548956 A T rs138346302 GPC4 Nonsynonymous SNV L13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 82346 chrX 54143046 54143046 C T rs147114137 FAM120C Synonymous SNV S748S 0.003 0.003 0 0 3 1 0 0 1 0 0 0 13.81 82347 chr9 139273237 139273237 G T SNAPC4 Synonymous SNV I1014I 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 2.345 82348 chr9 139639635 139639635 G A rs749403179 LCN6 Synonymous SNV T133T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.92 82349 chr4 420664 420664 G T rs1053401 ABCA11P 0 0 0.112 0 0 0 0 33 0 0 0 0 4.903 82350 chrX 118230653 118230653 C T rs182311514 KIAA1210 Nonsynonymous SNV S357N 0.014 0.016 0.014 11 16 6 0.028 4 3 1 2 4 0.061 82351 chr9 139753478 139753478 T C MAMDC4 Nonsynonymous SNV L993P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 82352 chr22 33402504 33402504 C A rs141682186 SYN3 Synonymous SNV L48L 0.009 0.016 0.017 5 11 6 0.013 5 0 0 0 0 Benign 16.6 82353 chr9 139905895 139905895 C A rs35099111 ABCA2 Synonymous SNV V1921V 0.009 0.005 0.017 4 10 2 0.01 5 0 0 0 0 7.921 82354 chrX 66941751 66941751 C G rs137852591 AR Nonsynonymous SNV Q799E 0.003 0.003 0 0 4 1 0 0 1 0 0 0 Likely pathogenic 25.9 82355 chr10 60549536 60549536 T C rs770084671 BICC1 Nonsynonymous SNV L297P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 82356 chr9 139915216 139915216 G A rs111804913 ABCA2 Synonymous SNV L399L 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 Benign 8.529 82357 chr9 139929108 139929108 G A rs201690008 C9orf139 Nonsynonymous SNV G59S 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 19.85 82358 chr4 47788929 47788929 C T CORIN Synonymous SNV K74K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.33 82359 chrX 130409217 130409217 C G rs145402054 IGSF1 Nonsynonymous SNV M1067I 0.005 0.005 0 1 6 2 0.003 0 1 0 0 0 Benign 0.391 82360 chr9 139960823 139960823 G A rs747876703 SAPCD2 Nonsynonymous SNV A192V 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 3.526 82361 chr9 139973024 139973024 C T rs113895171 UAP1L1 Synonymous SNV L189L 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 13.87 82362 chr9 34662591 34662591 A G rs759823376 CCL27 Nonsynonymous SNV S14P 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 3.782 82363 chr10 74451921 74451921 C T rs780598597 MCU Synonymous SNV A4A 0 0.005 0 0 0 2 0 0 0 0 0 0 18.54 82364 chrX 74291377 74291377 T C rs139311518 ABCB7 Nonsynonymous SNV I352V 0.005 0.003 0 0 6 1 0 0 2 0 0 0 Benign/Likely benign 7.902 82365 chr9 34892841 34892841 C T rs780666253 FAM205C Nonsynonymous SNV R187Q 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 5.891 82366 chr10 75520065 75520065 C G rs146798574 SEC24C Synonymous SNV G257G 0.009 0.013 0.007 5 11 5 0.013 2 0 0 0 0 Benign 7.375 82367 chr9 140008796 140008798 AGA - rs759766855 DPP7 F73del 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 82368 chr9 35609578 35609578 G A rs55673450 TESK1 Nonsynonymous SNV G414S 0.023 0.013 0.01 7 27 5 0.018 3 0 0 0 1 16.88 82369 chrX 78216024 78216024 A C rs6618868 P2RY10 Nonsynonymous SNV N3H 0.022 0.021 0.014 13 26 8 0.033 4 8 3 1 5 0.001 82370 chr9 35906542 35906580 CCTCCACCACCACCACCACCCCCGCCACACCCCTCACCA - rs763754942 HRCT1 R94_P106del 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 82371 chrX 152826252 152826252 C T rs375637203 ATP2B3 Synonymous SNV N986N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 82372 chr10 696126 696126 G A rs944427038 PRR26 Nonsynonymous SNV G26R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.717 82373 chr9 37428544 37428544 C T rs142509393 GRHPR Synonymous SNV V156V 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.76 82374 chr4 54852889 54852889 C G rs145334913 RPL21P44 0 0 0.003 0 0 0 0 1 0 0 0 0 4.333 82375 chrX 153068904 153068904 G A rs151185706 PDZD4 Synonymous SNV D629D 0.015 0.013 0 1 18 5 0.003 0 3 1 0 0 1.795 82376 chrX 153174934 153174934 T G rs145982906 ARHGAP4 Nonsynonymous SNV S824R 0.011 0.013 0.014 2 13 5 0.005 4 3 2 1 1 1.671 82377 chr9 140773612 140773612 - ACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTC CACNA1B 0.004 0 0 4 5 0 0.01 0 0 0 0 0 82378 chrX 150793979 150793979 G A rs143131546 PASD1 Synonymous SNV E202E 0.009 0.01 0.003 2 10 4 0.005 1 1 0 0 0 0.316 82379 chr10 8006876 8006876 C A TAF3 Nonsynonymous SNV A468D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.26 82380 chr9 38396801 38396801 T C ALDH1B1 Synonymous SNV F352F 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 0.12 82381 chrX 151138766 151138766 C T GABRE Synonymous SNV K55K 0.003 0.016 0 0 4 6 0 0 1 2 0 0 11.16 82382 chr4 57798144 57798144 A G rs61748757 REST Synonymous SNV Q1040Q 0.009 0.003 0.014 2 10 1 0.005 4 0 0 0 0 0.011 82383 chr22 40080499 40080499 G A rs942465126 CACNA1I Nonsynonymous SNV R1973Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 82384 chrX 153070340 153070340 C T PDZD4 Nonsynonymous SNV E151K 0.003 0.008 0 0 4 3 0 0 1 1 0 0 9.523 82385 chr22 41257877 41257877 T G rs2269619 DNAJB7 Nonsynonymous SNV E41A 0.012 0.016 0.003 13 14 6 0.033 1 0 0 0 0 13.17 82386 chr10 71662507 71662507 G A rs41277962 COL13A1 Nonsynonymous SNV E205K 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Benign 26.3 82387 chr4 647723 647723 G A rs144562730 PDE6B Nonsynonymous SNV R265Q 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 82388 chr9 72333518 72333518 C T rs756484957 PTAR1 Nonsynonymous SNV G265R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 18.82 82389 chrX 140993827 140993827 - TTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTC MAGEC1 R220_T221insSQRTSEGFAQSPLQIPVSSSSSSTLLSLFQSSPERTQSTFEGFPQSPLQIPVSRSFSSTLLSLFQSSPER 0.003 0 0 4 3 0 0.01 0 1 0 0 2 82390 chr10 85985275 85985275 A T LRIT2 Star tloss M1? 0 0.005 0 0 0 2 0 0 0 0 0 0 27.5 82391 chr10 71974300 71974300 A T rs574429554 PPA1 Nonsynonymous SNV C114S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.02 82392 chr9 15307258 15307258 G C TTC39B Nonsynonymous SNV R22G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.57 82393 chr10 102743217 102743217 G A rs147237913 SEMA4G Nonsynonymous SNV G621R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 34 82394 chr1 1007255 1007255 G C rs534034872 RNF223 Nonsynonymous SNV P231R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.79 82395 chr1 1139862 1139862 T C rs11466691 TNFRSF18 Synonymous SNV K105K 0.008 0.005 0.003 6 9 2 0.015 1 0 0 0 0 0.729 82396 chr4 68447073 68447073 G C rs149803575 STAP1 Synonymous SNV L138L 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.52 82397 chr10 90351202 90351202 T G rs147165540 LIPJ Nonsynonymous SNV I26S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.5 82398 chr4 68567014 68567014 A G rs376361830 UBA6-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 0.253 82399 chr9 74828890 74828890 G A rs150730275 GDA Synonymous SNV S187S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.467 82400 chr9 20923696 20923696 C G rs117748510 FOCAD Nonsynonymous SNV L964V 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 82401 chr9 77423068 77423068 C G rs368071569 TRPM6 Nonsynonymous SNV R502P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.1 82402 chr10 91497960 91497960 T C rs368304916 KIF20B Nonsynonymous SNV I1121T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.8 82403 chr10 73567605 73567605 G T CDH23 Nonsynonymous SNV V615L 0 0.005 0 0 0 2 0 0 0 0 0 0 22.6 82404 chr10 73574776 73574776 G A rs747409066 CDH23 Nonsynonymous SNV R131H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 14.75 82405 chr10 73992862 73992862 C G rs9275 ANAPC16 Synonymous SNV P82P 0.003 0.01 0.01 0 4 4 0 3 0 0 0 0 10.3 82406 chr10 94591098 94591098 G A rs111500624 EXOC6 Synonymous SNV A7A 0.009 0.008 0.01 6 10 3 0.015 3 1 0 0 0 8.808 82407 chr4 71509348 71509348 T C rs144225109 ENAM Synonymous SNV S517S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 82408 chr10 74923710 74923711 TA - rs142211740 ECD 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 82409 chr10 75006932 75006932 G T rs201308148 DNAJC9 Nonsynonymous SNV L6I 0 0.005 0.003 0 0 2 0 1 0 0 0 0 20.9 82410 chr4 72620788 72620788 C T rs76803094 GC Synonymous SNV P357P 0.031 0.044 0.034 10 36 17 0.026 10 0 2 0 0 14.08 82411 chr1 2237525 2237525 C T rs35833638 SKI Synonymous SNV L612L 0.003 0.005 0.003 6 3 2 0.015 1 0 0 0 0 Benign/Likely benign 11.5 82412 chr10 75037999 75037999 C A rs12256262 CFAP70 Nonsynonymous SNV W657L 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 9.801 82413 chr9 35042296 35042296 G A rs61742471 C9orf131 Nonsynonymous SNV M15I 0.023 0.047 0.027 21 27 18 0.054 8 0 0 0 0 0.027 82414 chr10 75552298 75552298 T C rs200674189 ZSWIM8 Synonymous SNV Y667Y 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.007 82415 chr9 35649916 35649916 C A rs138786883 SIT1 Nonsynonymous SNV A174S 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 17.54 82416 chr10 106159180 106159180 A G rs61732098 CFAP58 Synonymous SNV E579E 0.009 0.008 0.014 2 10 3 0.005 4 0 0 0 0 9.191 82417 chr10 96522517 96522517 A C rs17882687 CYP2C19 Nonsynonymous SNV I19L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 no interpretation for the single variant 0.001 82418 chr10 96971736 96971736 G A rs749545316 ACSM6 Nonsynonymous SNV G286E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 82419 chr10 112343147 112343147 C T rs148729748 SMC3 Synonymous SNV I270I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.38 82420 chr9 79938036 79938036 C T rs149694033 VPS13A Nonsynonymous SNV R1923C 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 82421 chrX 48649678 48649678 C T rs782591058 GATA1 Synonymous SNV T54T 0.002 0.003 0 0 2 1 0 0 1 0 0 0 11.6 82422 chr10 114711333 114711333 C T rs143305771 TCF7L2 Synonymous SNV L116L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 9.195 82423 chr1 3643687 3643687 G A rs140541850 TP73 Synonymous SNV T198T 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 Likely benign 12.6 82424 chr10 78669754 78669754 G A rs544106405 KCNMA1 Synonymous SNV A931A 0 0.005 0 0 0 2 0 0 0 0 0 0 17.26 82425 chr4 78532146 78532146 A T rs533657002 CXCL13 Nonsynonymous SNV S95C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 82426 chr4 79188584 79188584 C T rs61999335 FRAS1 Nonsynonymous SNV R327W 0.014 0.018 0.014 6 17 7 0.015 4 0 0 0 0 Benign 21.2 82427 chr10 81318652 81318652 T C rs17886221 SFTPA2 Synonymous SNV R104R 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 0.004 82428 chr10 115804788 115804788 C T ADRB1 Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.631 82429 chr10 115804826 115804826 C T ADRB1 Nonsynonymous SNV S312L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 82430 chr10 81928830 81928830 G A rs34003188 ANXA11 Synonymous SNV Y152Y 0.014 0.016 0.02 6 17 6 0.015 6 0 0 0 0 0.343 82431 chr4 79432500 79432500 C T rs182196851 FRAS1 Nonsynonymous SNV H3285Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 29.8 82432 chr10 116085713 116085713 G T AFAP1L2 Synonymous SNV G134G 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 15.76 82433 chr10 116225563 116225563 C T ABLIM1 Synonymous SNV R103R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.06 82434 chr9 37746585 37746585 A C rs140778637 FRMPD1 Nonsynonymous SNV E1519A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26 82435 chr4 83350763 83350763 G A rs61737724 HNRNPDL Synonymous SNV L27L 0.026 0.01 0.014 11 31 4 0.028 4 2 0 0 0 Benign 9.845 82436 chr4 83765605 83765605 C A rs11541628 SEC31A Nonsynonymous SNV A815S 0.025 0.016 0.024 14 29 6 0.036 7 0 0 0 0 3.177 82437 chr9 399255 399255 G A rs34627722 DOCK8 Nonsynonymous SNV S977N 0.027 0.018 0.034 10 32 7 0.026 10 2 0 0 0 Benign/Likely benign 17.16 82438 chr9 72790799 72790799 C T rs142080383 MAMDC2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 12 82439 chr10 11805399 11805399 C T rs117706607 ECHDC3 Synonymous SNV Y256Y 0.024 0.016 0.02 3 28 6 0.008 6 0 1 0 0 8.563 82440 chr9 4572343 4572343 A G rs200818823 SLC1A1 Nonsynonymous SNV N241S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 82441 chr9 74971932 74971932 A C rs371700614 ZFAND5 Synonymous SNV T136T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.37 82442 chr9 6481659 6481659 A G UHRF2 Nonsynonymous SNV K393E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 82443 chr10 91066716 91066716 C A IFIT2 Nonsynonymous SNV R335S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.9 82444 chr10 122610983 122610983 G T rs35692153 WDR11 Synonymous SNV G17G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.59 82445 chr10 122665489 122665489 C T rs12268298 WDR11 Synonymous SNV L1131L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 82446 chr10 122668181 122668181 T C rs34567350 WDR11 Synonymous SNV L1211L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 82447 chr4 88537018 88537018 T C rs370264407 DSPP Synonymous SNV D1068D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 82448 chrX 106765713 106765713 C A rs761756780 FRMPD3 Nonsynonymous SNV R12S 0.003 0 0 0 3 0 0 0 1 0 0 0 8.976 82449 chr10 124058549 124058549 G A rs76567565 BTBD16 Nonsynonymous SNV E232K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 82450 chr10 124157455 124157455 C T rs201098598 PLEKHA1 Nonsynonymous SNV R55C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24 82451 chrX 11207098 11207098 A C rs146662506 ARHGAP6 Nonsynonymous SNV I96S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.08 82452 chr10 103339535 103339535 C T rs149956893 POLL Nonsynonymous SNV G193D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 82453 chrX 14929375 14929375 G A rs35164803 MOSPD2 Nonsynonymous SNV S177N 0.017 0.016 0.01 6 20 6 0.015 3 4 1 1 1 18.7 82454 chr1 12069692 12069692 G A rs142271930 MFN2 Nonsynonymous SNV V705I 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 Benign/Likely benign 19.61 82455 chr10 103345743 103345743 G A rs776454975 POLL Nonsynonymous SNV R96C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 82456 chr10 96028736 96028736 C T rs758602063 PLCE1 Synonymous SNV D1136D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.12 82457 chr9 85677648 85677648 G A rs767112915 RASEF Synonymous SNV A45A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.59 82458 chr10 103454254 103454254 G A rs770271071 FBXW4 Synonymous SNV L203L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 82459 chr10 96466699 96466699 C G rs748611368 CYP2C18 Nonsynonymous SNV F267L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 82460 chrX 117527020 117527020 C T rs5956050 WDR44 Synonymous SNV A179A 0.02 0.013 0.01 3 23 5 0.008 3 3 2 0 1 8.825 82461 chr11 1017522 1017522 T G rs199592093 MUC6 Nonsynonymous SNV E1760A 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 0 0.6 82462 chr4 973210 973210 T C SLC26A1 Nonsynonymous SNV E220G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.804 82463 chr4 973211 973211 C T SLC26A1 Nonsynonymous SNV E220K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 82464 chr11 1017783 1017783 A C rs36101709 MUC6 Nonsynonymous SNV L1673R 0.021 0.021 0.024 9 25 8 0.023 7 0 0 0 0 0.001 82465 chr9 95177619 95177619 A - OMD Y361Ifs*15 0 0 0 1 0 0 0.003 0 0 0 0 0 82466 chr10 97380941 97380941 G A rs150526956 ALDH18A1 Synonymous SNV I226I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.67 82467 chr9 95258597 95258606 TTACTTGATG - ECM2 I676Sfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 82468 chr10 97599532 97599532 G A rs199915134 ENTPD1 Nonsynonymous SNV V84M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 82469 chr10 97607304 97607304 T C rs749146524 ENTPD1 Synonymous SNV F167F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.198 82470 chr9 95738701 95738701 G C FGD3 Nonsynonymous SNV G55R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.72 82471 chr9 90283560 90283560 G T rs55994363 DAPK1 Nonsynonymous SNV V658L 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 Likely benign 21.6 82472 chr1 15986454 15986454 C T rs141224991 RSC1A1 Nonsynonymous SNV R31C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 82473 chr9 96214656 96214656 C A rs368893571 FAM120A, FAM120AOS Synonymous SNV I153I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.62 82474 chr10 99215739 99215739 G A rs149932676 ZDHHC16 Synonymous SNV R249R 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 11.63 82475 chr9 98009786 98009786 C T rs138629441 FANCC Nonsynonymous SNV V60I 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 82476 chr10 106907470 106907470 G A rs117465065 SORCS3 Synonymous SNV T466T 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 14.52 82477 chrX 135312665 135312665 C G MAP7D3 Nonsynonymous SNV M508I 0.003 0 0 3 3 0 0.008 0 0 0 0 1 0.001 82478 chr9 94794623 94794623 T C rs189582528 SPTLC1 Nonsynonymous SNV K505R 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Benign/Likely benign 1.512 82479 chr9 95005537 95005537 A C rs2230405 IARS Synonymous SNV A987A 0.021 0.034 0.024 6 25 13 0.015 7 0 0 0 0 7.432 82480 chr9 95063947 95063947 C T rs921122 NOL8 Nonsynonymous SNV G983S 0.021 0.034 0.017 6 25 13 0.015 5 0 0 0 0 10.85 82481 chr9 95072907 95072907 G C rs15717 NOL8 Nonsynonymous SNV D803E 0.024 0.036 0.027 6 28 14 0.015 8 0 0 0 0 1.22 82482 chr10 133758888 133758888 G A rs201223480 PPP2R2D Nonsynonymous SNV V84I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 82483 chr9 95179179 95179179 C T rs34860658 OMD Nonsynonymous SNV S221N 0.022 0.036 0.024 6 26 14 0.015 7 0 0 0 0 2.087 82484 chrX 48751289 48751289 G A rs141147934 TIMM17B Synonymous SNV G108G 0.008 0.003 0.003 1 9 1 0.003 1 2 0 0 0 6.233 82485 chr9 95228776 95228776 C A rs41278699 ASPN Synonymous SNV L154L 0.02 0.034 0.031 6 24 13 0.015 9 0 0 0 0 10.66 82486 chr9 95237025 95237030 TCATCA - rs878983183 ASPN D50del 0.024 0.042 0.007 11 28 16 0.028 2 0 0 0 0 82487 chr9 95237030 95237030 - TCA ASPN D50_E51insD 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 82488 chr9 95277356 95277356 C T rs34758505 ECM2 Nonsynonymous SNV R182Q 0.022 0.034 0.031 6 26 13 0.015 9 0 0 0 0 0.827 82489 chr10 99510166 99510166 C T ZFYVE27 Nonsynonymous SNV P130L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 82490 chr5 112676296 112676296 C T rs75148264 MCC Nonsynonymous SNV A183T 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Likely benign 0.978 82491 chr9 95608658 95608658 T C rs144795971 ZNF484 Nonsynonymous SNV Y768C 0.027 0.026 0.017 10 32 10 0.026 5 0 0 0 0 23.1 82492 chrX 100911865 100911865 - CTGCAGCCCCAGTAGGTG rs782365123 ARMCX2 A236_E237insAPTGAA 0 0 0.003 1 0 0 0.003 1 0 0 0 0 82493 chr11 1018363 1018363 G A rs762968584 MUC6 Nonsynonymous SNV P1480S 0.018 0.013 0.003 2 21 5 0.005 1 0 0 0 0 0.001 82494 chrX 103495171 103495171 G C rs191202058 ESX1 Nonsynonymous SNV P320R 0.006 0.008 0.01 2 7 3 0.005 3 1 1 1 0 Benign 4.496 82495 chr5 118468934 118468934 A G rs773770399 DMXL1 Nonsynonymous SNV I475V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.208 82496 chr5 122425861 122425861 - GCCGCC rs563892036 PRDM6 P59_E60insPP 0.007 0.013 0.014 4 8 5 0.01 4 0 0 0 0 82497 chrX 149638450 149638450 C T rs146555522 MAMLD1 Nonsynonymous SNV T177M 0.008 0 0.003 0 9 0 0 1 1 0 0 0 Benign 23.7 82498 chrX 70330033 70330033 G A rs773342053 IL2RG Synonymous SNV Y189Y 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 5.091 82499 chrX 70466490 70466490 G C rs151152741 ZMYM3 Nonsynonymous SNV N789K 0.004 0.016 0.007 0 5 6 0 2 0 2 1 0 Benign 6.389 82500 chr5 125696094 125696094 C T GRAMD2B Nonsynonymous SNV P24L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 82501 chr5 125801239 125801239 T C rs200501308 GRAMD2B 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 82502 chr10 118030415 118030415 A T rs8192662 GFRA1 Nonsynonymous SNV Y85N 0.021 0.018 0.01 8 25 7 0.021 3 0 0 0 0 26.7 82503 chrX 114426905 114426905 C T rs151176784 RBMXL3 Synonymous SNV S967S 0.009 0.005 0.014 6 11 2 0.015 4 3 1 2 2 5.775 82504 chrX 74285047 74285047 A G rs985304447 ABCB7 Synonymous SNV Y523Y 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 0.004 82505 chrX 101408964 101408964 G A rs113712663 BEX5 Nonsynonymous SNV R92C 0.004 0 0 3 5 0 0.008 0 1 0 0 1 22.7 82506 chrX 153039055 153039055 G A rs782450733 PLXNB3 Nonsynonymous SNV A1056T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 82507 chr5 130808381 130808381 C T rs144719032 RAPGEF6 Nonsynonymous SNV R713K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 82508 chrX 153132908 153132908 C T rs782486088 L1CAM Synonymous SNV S675S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 82509 chr10 12148357 12148357 A G rs762399216 DHTKD1 Nonsynonymous SNV N670S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 82510 chr10 16562915 16562915 G A rs779316337 C1QL3 Synonymous SNV G50G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.986 82511 chrX 153227726 153227726 G A rs781816218 HCFC1 Synonymous SNV S248S 0.01 0.003 0 1 12 1 0.003 0 4 0 0 0 13.91 82512 chrX 123467624 123467624 A G rs780282528 TEX13D Nonsynonymous SNV Q286R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.157 82513 chr10 17142165 17142165 T C rs139848689 CUBN Nonsynonymous SNV Y535C 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Uncertain significance 25.4 82514 chrX 101909851 101909851 G A rs748849268 GPRASP1 Nonsynonymous SNV R337Q 0.009 0.005 0 1 11 2 0.003 0 2 0 0 0 2.789 82515 chr10 18931421 18931421 G A rs912504458 NSUN6 Nonsynonymous SNV P47S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 82516 chrX 19443722 19443722 T C rs56212339 MAP3K15 Nonsynonymous SNV S456G 0.006 0 0 0 7 0 0 0 1 0 0 0 11.49 82517 chrX 22291936 22291936 A G rs750306802 CBLL2 Nonsynonymous SNV I276M 0.003 0 0 1 4 0 0.003 0 1 0 0 0 0.001 82518 chrX 105167411 105167411 A G rs35334892 NRK Nonsynonymous SNV D971G 0.016 0.018 0.01 3 19 7 0.008 3 3 1 1 1 0.036 82519 chrX 23411108 23411108 C T rs138439272 PTCHD1 Synonymous SNV Y491Y 0.003 0 0 1 4 0 0.003 0 1 0 0 0 1.518 82520 chr11 1017899 1017899 A T rs745330441 MUC6 Synonymous SNV P1634P 0.025 0.018 0.082 6 29 7 0.015 24 0 0 0 0 0.029 82521 chr1 22902826 22902826 C T rs145476843 EPHA8 Synonymous SNV D92D 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 11.65 82522 chr11 1017917 1017917 A T rs759632072 MUC6 Synonymous SNV T1628T 0.027 0.021 0.071 6 32 8 0.015 21 0 0 0 0 0.011 82523 chrX 107224963 107224963 G C rs144538520 TEX13B Nonsynonymous SNV T132S 0.022 0.026 0.017 6 26 10 0.015 5 5 3 2 2 9.174 82524 chr11 1017955 1017955 C T rs113926343 MUC6 Nonsynonymous SNV V1616I 0.037 0.036 0.02 8 44 14 0.021 6 0 0 0 0 0.795 82525 chrX 135314351 135314351 C T rs144033910 MAP7D3 Synonymous SNV Q220Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.968 82526 chrX 135593167 135593167 G A rs1058376 HTATSF1 Synonymous SNV A421A 0.012 0.003 0.014 6 14 1 0.015 4 3 0 2 1 9.998 82527 chrX 135960146 135960146 - AA rs755459969 RBMX Frameshift insertion P106Ffs*32 0.035 0.029 0 4 41 11 0.01 0 0 0 0 0 82528 chrX 38664268 38664268 C T rs185752632 MID1IP1 Synonymous SNV G23G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.63 82529 chrX 119077222 119077222 C T NKAP Nonsynonymous SNV S116N 0.011 0.003 0 0 13 1 0 0 3 0 0 0 23.6 82530 chrX 119576455 119576455 G A rs73219144 LAMP2 Synonymous SNV S309S 0.055 0.013 0.037 14 64 5 0.036 11 16 0 3 4 Benign/Likely benign 11.79 82531 chrX 149013895 149013895 A G rs149643429 MAGEA8 Synonymous SNV E283E 0.013 0.005 0.007 8 15 2 0.021 2 4 0 1 1 1.094 82532 chrX 122551465 122551465 C T GRIA3 Synonymous SNV F571F 0.009 0.003 0 0 11 1 0 0 3 0 0 0 10.37 82533 chr10 12940432 12940432 G T rs116856516 CCDC3 Nonsynonymous SNV P266H 0.017 0.023 0.027 2 20 9 0.005 8 1 1 1 0 23.5 82534 chrX 48935526 48935526 C T rs151051355 WDR45 Nonsynonymous SNV V34M 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 23 82535 chr10 30336672 30336672 C T rs72810797 JCAD Nonsynonymous SNV E24K 0.01 0.016 0.007 2 12 6 0.005 2 1 0 0 0 13.6 82536 chrX 132092417 132092417 G A HS6ST2 Stop gain R72X 0.015 0.013 0 2 18 5 0.005 0 4 1 0 1 36 82537 chr5 140201794 140201794 G A PCDHA5 Nonsynonymous SNV R145K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 82538 chrX 64722371 64722371 A T ZC3H12B Nonsynonymous SNV Y598F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.8 82539 chr1 26496960 26496960 C T rs150295489 ZNF593 Synonymous SNV D84D 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 17.7 82540 chr11 117335805 117335805 C T rs202069418 DSCAML1 Nonsynonymous SNV V1040M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 82541 chr1 26527999 26528007 AGCATGGAA - rs574754918 CATSPER4 S452_E454del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 82542 chr11 117789431 117789431 C T TMPRSS13 Synonymous SNV G48G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.126 82543 chr10 3202420 3202420 T G rs374869417 PITRM1 Synonymous SNV P266P 0.006 0 0 0 7 0 0 0 0 0 0 0 1.88 82544 chr1 26608896 26608896 - TGGGGCCGGG UBXN11 Frameshift insertion C366Sfs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 82545 chr1 26608897 26608897 - CCGGGACCGGGACC UBXN11 Frameshift insertion C366Gfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 82546 chrX 69495939 69495939 C T rs139208732 ARR3 Synonymous SNV V51V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 9.05 82547 chr5 140743927 140743927 C T rs200312693 PCDHGA5 Synonymous SNV C10C 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 13.43 82548 chrX 153296697 153296697 G A rs61749711 MECP2 Synonymous SNV S206S 0.001 0 0.003 4 1 0 0.01 1 0 0 0 1 Benign 4.854 82549 chrX 153716812 153716812 C T rs372105530 SLC10A3 Synonymous SNV P156P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 4.811 82550 chr1 27660734 27660734 G A rs41291080 TMEM222 Synonymous SNV T167T 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 14.19 82551 chrX 150912796 150912796 C G rs373994233 CNGA2 Nonsynonymous SNV N607K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.02 82552 chrX 153137715 153137715 T C L1CAM Nonsynonymous SNV T93A 0.007 0.003 0 0 8 1 0 0 2 0 0 0 4.69 82553 chrX 18925201 18925201 C T rs61729452 PHKA2 Synonymous SNV L844L 0.004 0.008 0.01 5 5 3 0.013 3 2 0 0 0 Benign 9.316 82554 chr11 10786250 10786250 C T rs766122365 CTR9 Synonymous SNV I523I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.13 82555 chr10 46111895 46111895 G A rs74436700 ZFAND4 Nonsynonymous SNV P725S 0.009 0.008 0.014 2 10 3 0.005 4 0 0 0 0 27.3 82556 chr11 120340060 120340060 A T rs2305013 ARHGEF12 Nonsynonymous SNV Y954F 0.022 0.039 0.027 7 26 15 0.018 8 0 0 0 0 19.12 82557 chr5 147012297 147012297 T A rs11739097 JAKMIP2 Synonymous SNV L553L 0.026 0.023 0.034 10 30 9 0.026 10 0 0 0 0 11.96 82558 chrX 17653697 17653697 C T rs143065064 NHS Nonsynonymous SNV A4V 0.005 0.005 0.014 4 6 2 0.01 4 2 0 2 1 Likely benign 18.15 82559 chrX 34149230 34149230 G A rs200790787 FAM47A Nonsynonymous SNV P389L 0.003 0 0.007 5 4 0 0.013 2 0 0 1 1 20.5 82560 chrX 34149725 34149725 C T rs753875155 FAM47A Nonsynonymous SNV R224H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.6 82561 chrX 24759511 24759511 T C rs2230927 POLA1 Nonsynonymous SNV Y746H 0.004 0.003 0 2 5 1 0.005 0 1 0 0 0 15.06 82562 chr10 101462290 101462290 T C rs778075289 ENTPD7 Synonymous SNV A481A 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 7.546 82563 chr1 914727 914727 G T rs181798425 PERM1 Synonymous SNV R561R 0.008 0 0.01 3 9 0 0.008 3 0 0 0 0 0.266 82564 chrX 2933233 2933233 G A rs142811205 ARSH Nonsynonymous SNV R188H 0.048 0.047 0.048 12 56 18 0.031 14 15 4 4 2 Likely benign 6.726 82565 chr5 149433689 149433689 G A rs56005231 CSF1R Synonymous SNV C954C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.221 82566 chr10 102056016 102056016 G A rs7904983 PKD2L1 Stop gain R360X 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 40 82567 chr10 102056790 102056790 G A rs7909153 PKD2L1 Nonsynonymous SNV R331W 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 24.8 82568 chr10 102057262 102057262 C T rs17112895 PKD2L1 Nonsynonymous SNV R231Q 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 23 82569 chr5 149576280 149576280 C T rs144061408 SLC6A7 Synonymous SNV G73G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.518 82570 chr10 50339685 50339685 G A rs979445435 FAM170B Synonymous SNV L275L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.256 82571 chr10 102740062 102740062 C T SEMA4G Nonsynonymous SNV P438S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 82572 chr10 102766750 102766750 G A rs145889711 LZTS2 Nonsynonymous SNV R392H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 82573 chr1 1230148 1230159 TCCGAGCTGCCA - rs946530559 ACAP3 G618_D621del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 82574 chr10 102768528 102768528 C T rs574483811 PDZD7 Nonsynonymous SNV R933Q 0.003 0 0 0 3 0 0 0 0 0 0 0 19.07 82575 chr10 102778025 102778025 C T rs757615613 PDZD7 Nonsynonymous SNV V461I 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 19.35 82576 chr10 103530197 103530197 G A rs760863812 FGF8 Synonymous SNV P104P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.208 82577 chr10 50690821 50690821 G A rs114852424 ERCC6 Nonsynonymous SNV P694L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 82578 chr11 114577518 114577518 G T rs73564342 NXPE2 Nonsynonymous SNV D516Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24 82579 chr10 104245443 104245443 C T rs7912625 ACTR1A Synonymous SNV R121R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.34 82580 chr1 38155903 38155903 C T rs189494598 C1orf109 Synonymous SNV A56A 0.003 0 0 0 4 0 0 0 0 0 0 0 6.285 82581 chrX 37535019 37535019 C T rs41305229 LANCL3 Synonymous SNV L406L 0.005 0 0 1 6 0 0.003 0 1 0 0 0 11.82 82582 chr10 16916377 16916377 G A CUBN Nonsynonymous SNV L3078F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.4 82583 chrX 47775540 47775540 A G rs182239885 ZNF81 Nonsynonymous SNV I499V 0.009 0.013 0.003 2 10 5 0.005 1 3 1 0 0 Conflicting interpretations of pathogenicity 0.002 82584 chr11 124829097 124829097 A G rs751910684 CCDC15 Synonymous SNV K88K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.577 82585 chrX 49142646 49142646 C T PPP1R3F Synonymous SNV R152R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.221 82586 chr1 2409103 2409103 C A PLCH2 Nonsynonymous SNV S48R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.895 82587 chr10 55582636 55582636 T C rs111033362 PCDH15 Nonsynonymous SNV N1577S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign/Likely benign 0.001 82588 chrX 48772369 48772369 G C PIM2 Nonsynonymous SNV R175G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 82589 chrX 48847130 48847130 G C GRIPAP1 Synonymous SNV A219A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.797 82590 chr10 1061781 1061781 G A rs773394843 GTPBP4 Nonsynonymous SNV R566Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 82591 chrX 66765164 66765164 - GCAGCAGCAGCA AR Q80_E81insQQQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 82592 chrX 69424828 69424828 A T rs369009805 DGAT2L6 Nonsynonymous SNV I296F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 82593 chr10 106214272 106214272 C A rs74741614 CFAP58 Nonsynonymous SNV T868N 0.027 0.01 0.017 10 32 4 0.026 5 0 0 0 0 1.472 82594 chr5 154346296 154346296 G A rs3749671 MRPL22 Nonsynonymous SNV G74S 0.046 0.026 0.031 15 54 10 0.038 9 2 0 0 0 34 82595 chr11 118827667 118827667 T - rs750295837 UPK2 C51Vfs*10 0.001 0.008 0 0 1 3 0 0 0 0 0 0 82596 chr1 41976286 41976286 T C rs1034194367 HIVEP3 Nonsynonymous SNV S2352G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 21.4 82597 chr10 5842561 5842561 A G rs1003629093 GDI2 Synonymous SNV D51D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.787 82598 chrX 70350008 70350008 C T MED12 Synonymous SNV L1331L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 82599 chrX 54469894 54469894 T C rs36032873 TSR2 Synonymous SNV D78D 0.026 0.005 0.003 3 30 2 0.008 1 8 0 0 0 Benign 0.171 82600 chrX 54955403 54955403 G A rs1019511898 TRO Nonsynonymous SNV G280D 0.004 0.003 0 0 5 1 0 0 2 0 0 0 15.48 82601 chr1 3545083 3545083 C T rs769486665 TPRG1L Synonymous SNV I245I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 82602 chr1 42045588 42045588 G A rs138363884 HIVEP3 Synonymous SNV Y1627Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.106 82603 chrX 7175524 7175524 C T rs779329015 STS Nonsynonymous SNV R93C 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 82604 chrX 66765156 66765167 GCTGCAGCAGCA - AR L57_Q60del 0.003 0 0 0 3 0 0 0 1 0 0 0 82605 chrX 66766357 66766359 GGC - AR G473del 0.005 0 0.014 5 6 0 0.013 4 2 0 2 2 82606 chrX 66909399 66909399 A G AR Synonymous SNV A629A 0.003 0 0 0 3 0 0 0 1 0 0 0 4.011 82607 chr1 6268994 6268994 C T rs142966477 RNF207 Synonymous SNV R126R 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 13.76 82608 chr5 160061402 160061402 C T rs376023056 ATP10B Nonsynonymous SNV R419H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 82609 chr11 119548433 119548433 A G rs140389200 NECTIN1 Synonymous SNV L189L 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.103 82610 chrX 70460934 70460934 G A rs2272778 ZMYM3 Synonymous SNV N1303N 0.008 0.013 0 3 9 5 0.008 0 2 2 0 1 Benign 6.617 82611 chr10 27702894 27702923 GGGGTGCATCGTCCAGCTCCAGCGGCAGGC - rs773988095 PTCHD3 R86_P95del 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 82612 chr1 45242433 45242433 C G rs779539651 RPS8 Synonymous SNV S66S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 82613 chr10 70645874 70645874 G A rs117563383 STOX1 Synonymous SNV V774V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.625 82614 chr11 122724728 122724728 T A CRTAM Nonsynonymous SNV S142T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.538 82615 chr5 167880997 167880997 T C rs148648959 WWC1 Synonymous SNV N850N 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 3.973 82616 chr1 46079783 46079785 GAG - rs778628578 NASP E447del 0.001 0 0 0 1 0 0 0 0 0 0 0 82617 chr5 16794855 16794855 G A rs61743057 MYO10 Nonsynonymous SNV R123W 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 27.7 82618 chr1 9781304 9781304 G C rs151278626 PIK3CD Synonymous SNV L574L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 12.38 82619 chr10 100190999 100190999 G A rs1801286 HPS1 Nonsynonymous SNV A63V 0.014 0.021 0.02 9 16 8 0.023 6 0 0 1 0 Benign/Likely benign 10.22 82620 chr5 169015479 169015479 G A rs116483731 SPDL1 Nonsynonymous SNV R20Q 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 22.8 82621 chr11 12316387 12316389 CTA - rs749215145 MICALCL T471del 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 82622 chr10 31809534 31809534 T C ZEB1 Nonsynonymous SNV V350A 0 0.005 0 0 0 2 0 0 0 0 0 0 23.9 82623 chr1 46501270 46501270 C T rs36097855 MAST2 Synonymous SNV C1642C 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 Benign 0.902 82624 chr5 169469088 169469088 G C rs6555882 DOCK2 Synonymous SNV L1276L 0.027 0.031 0.044 9 32 12 0.023 13 0 1 0 0 Benign 6.873 82625 chr11 1477642 1477642 G C rs33996815 BRSK2 Nonsynonymous SNV G578A 0.005 0.005 0.007 6 6 2 0.015 2 0 0 0 0 11.46 82626 chrX 9935710 9935710 G A CLDN34 Nonsynonymous SNV A105T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 82627 chr10 72509641 72509641 G A rs754096189 ADAMTS14 Nonsynonymous SNV R776Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23 82628 chr10 34620100 34620100 G A rs147136694 PARD3 Synonymous SNV I854I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.79 82629 chr10 121595140 121595140 G A rs758779529 MCMBP Nonsynonymous SNV A540V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 20.6 82630 chr10 73055607 73055607 G A rs61749231 UNC5B Nonsynonymous SNV V728M 0.005 0.008 0.017 0 6 3 0 5 0 0 0 0 20.4 82631 chr5 176314060 176314060 C G rs61749650 HK3 Nonsynonymous SNV Q600H 0.011 0.023 0.01 2 13 9 0.005 3 0 0 0 0 16.27 82632 chr10 124187794 124187794 G A PLEKHA1 Nonsynonymous SNV M301I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 21.1 82633 chr10 75184444 75184444 A G rs11591720 MSS51 Nonsynonymous SNV L417P 0.018 0.023 0.027 6 21 9 0.015 8 0 0 0 0 27.3 82634 chr1 52954652 52954652 A G rs376818300 TUT4 Synonymous SNV L482L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 6.285 82635 chr1 15495003 15495003 G A rs547383413 C1orf195 Synonymous SNV T123T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.25 82636 chr1 53072377 53072377 G A rs200063703 GPX7 Nonsynonymous SNV A54T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 82637 chr5 177546780 177546780 A G rs145353567 N4BP3 Nonsynonymous SNV S66G 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.001 82638 chr10 105233100 105233100 A T rs780829611 CALHM3 Nonsynonymous SNV L302Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 27.2 82639 chr10 77795827 77795827 C T rs147768808 LRMDA Synonymous SNV L37L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.085 82640 chr11 124506967 124506967 C T rs7941327 SIAE Synonymous SNV T484T 0.014 0.01 0.02 4 16 4 0.01 6 0 0 0 0 14.57 82641 chr11 124524627 124524627 A G rs1942663 SIAE Synonymous SNV S156S 0.02 0.01 0.02 5 23 4 0.013 6 1 0 0 0 0.659 82642 chr5 178408839 178408839 G A GRM6 Nonsynonymous SNV T818I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 82643 chr11 124545191 124545191 C A rs149627407 SPA17 Synonymous SNV R11R 0.009 0.003 0.014 1 11 1 0.003 4 0 0 0 0 22.8 82644 chr10 79581042 79581042 C T rs201354863 DLG5 Nonsynonymous SNV R1067H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 23.1 82645 chr1 15986868 15986868 G A rs35795032 RSC1A1 Nonsynonymous SNV E169K 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 0.019 82646 chr11 124756982 124756982 G A rs138481093 ROBO4 Nonsynonymous SNV R631C 0.012 0.016 0.017 6 14 6 0.015 5 1 0 0 0 Likely benign 25.4 82647 chr11 125299985 125299985 C T rs200196787 PKNOX2 Synonymous SNV I380I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.45 82648 chr5 179105675 179105675 G C rs78613293 CBY3 Nonsynonymous SNV A213G 0 0 0.02 1 0 0 0.003 6 0 0 0 0 12.87 82649 chr5 179142991 179142991 C T rs78081978 CANX Synonymous SNV P271P 0 0 0.01 0 0 0 0 3 0 0 0 0 3.919 82650 chr10 128193324 128193324 G C rs775132322 C10orf90 Nonsynonymous SNV P149A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.022 82651 chr10 85912039 85912039 G A rs143660911 GHITM Nonsynonymous SNV D325N 0.002 0.008 0.01 4 2 3 0.01 3 0 0 0 0 34 82652 chr5 179286097 179286097 C G rs399299 LOC100996419 0 0 0.01 0 0 0 0 3 0 0 0 0 4.397 82653 chr5 179287288 179287288 - A rs35590515 LOC100996419 0 0 0.027 0 0 0 0 8 0 0 0 0 82654 chr10 49985015 49985015 C T rs191941522 WDFY4 Synonymous SNV S1028S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.2 82655 chr11 125788550 125788550 G A rs202206859 DDX25 Nonsynonymous SNV V242M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 82656 chr5 179707557 179707557 C T MAPK9 Nonsynonymous SNV S2N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.955 82657 chr1 55591208 55591208 C T USP24 Nonsynonymous SNV G1249R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 82658 chr11 125830838 125830838 C G CDON X1288S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.157 82659 chr1 17668609 17668609 C T rs1748020 PADI4 Nonsynonymous SNV S275F 0.032 0.01 0.01 5 37 4 0.013 3 0 0 0 1 24.8 82660 chr1 17685859 17685859 A G PADI4 Nonsynonymous SNV K572E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.72 82661 chr10 11551647 11551647 T C rs776125881 USP6NL Nonsynonymous SNV T92A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.481 82662 chr10 50530943 50530943 C G rs773954248 C10orf71 Nonsynonymous SNV P118R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 82663 chr5 180472591 180472591 G C rs200387419 BTNL9 Synonymous SNV P34P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.735 82664 chr1 62954675 62954675 T A DOCK7 Nonsynonymous SNV N1768I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 28.3 82665 chr1 63788842 63788842 A C FOXD3 Nonsynonymous SNV K38T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.15 82666 chr10 118440705 118440705 G A rs188276880 HSPA12A Nonsynonymous SNV R329W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 31 82667 chr11 129756261 129756261 T C rs141499613 NFRKB Nonsynonymous SNV Q152R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 82668 chr10 95085694 95085694 G A rs146225814 MYOF Synonymous SNV L1707L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.01 82669 chr1 19513095 19513095 G T rs200820616 UBR4 Synonymous SNV S563S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.21 82670 chr10 55912919 55912919 G C rs748995667 PCDH15 Synonymous SNV V538V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.774 82671 chr10 5945115 5945115 C T rs776902652 FBH1 Nonsynonymous SNV P45L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.1 82672 chr10 60556139 60556139 A G rs142406700 BICC1 Nonsynonymous SNV M407V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.11 82673 chr11 14501123 14501123 T C rs138845699 COPB1 Synonymous SNV K450K 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 8.86 82674 chr1 74936049 74936049 A G rs532843056 LRRC53 Nonsynonymous SNV M1086T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.981 82675 chr10 98133546 98133546 G A rs201257996 TLL2 Synonymous SNV I823I 0.008 0.008 0 0 9 3 0 0 0 0 0 0 14.24 82676 chr5 40852308 40852308 T C rs746153896 CARD6 Nonsynonymous SNV C292R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.057 82677 chr1 22190652 22190652 C T rs372608187 HSPG2 Nonsynonymous SNV E1562K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 34 82678 chr10 16930430 16930430 G C rs148348845 CUBN Nonsynonymous SNV S2964C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.9 82679 chr11 17655363 17655363 C T rs56236649 OTOG Synonymous SNV S2415S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.9 82680 chr11 36250933 36250933 A T rs35922204 LDLRAD3 Nonsynonymous SNV T293S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 14.37 82681 chr10 127414290 127414290 C T rs763886048 EDRF1 Synonymous SNV T225T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.47 82682 chr5 443236 443236 C G rs115554641 EXOC3-AS1 0 0 0.017 0 0 0 0 5 0 0 2 0 7.571 82683 chr5 453818 453818 C G EXOC3 Nonsynonymous SNV T233S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 82684 chr11 380152 380152 G C B4GALNT4 Nonsynonymous SNV G889R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 82685 chr10 123970690 123970690 C T rs148585687 TACC2 Synonymous SNV S328S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.734 82686 chr5 50679014 50679014 A G rs3762977 LOC642366 0 0 0.017 0 0 0 0 5 0 0 2 0 9.252 82687 chr11 408093 408093 G A rs143116663 SIGIRR Nonsynonymous SNV S107F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.85 82688 chr1 26150224 26150224 C T rs184122423 MTFR1L Synonymous SNV A38A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.12 82689 chr11 44950703 44950703 A G rs138778813 TSPAN18 Nonsynonymous SNV M241V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.8 82690 chr5 55297673 55297677 ATATC - FLJ31104 0 0 0.003 0 0 0 0 1 0 0 0 0 82691 chr1 26508416 26508416 G A rs145868405 CNKSR1 Nonsynonymous SNV S154N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 82692 chr1 26608820 26608843 GGGACTGGGGCCGGGACCGGGACC - rs66614970 UBXN11 G384_P391del 0.005 0 0.014 6 6 0 0.015 4 2 0 0 2 82693 chr5 56178615 56178615 A C rs55912465 MAP3K1 Synonymous SNV S1196S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.07 82694 chr10 128860028 128860028 C T rs539319675 DOCK1 Synonymous SNV T811T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.96 82695 chr1 27105725 27105725 A G rs140946580 ARID1A Nonsynonymous SNV E1779G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 not provided 13.65 82696 chr11 46407321 46407321 C T rs201837786 CHRM4 Nonsynonymous SNV A263T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.01 82697 chr11 20676310 20676310 C G rs753956513 SLC6A5 Nonsynonymous SNV Q530E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.602 82698 chr10 27798805 27798805 C T rs149976113 RAB18 Synonymous SNV L24L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.61 82699 chr5 65466749 65466749 A G rs372850658 SREK1 Synonymous SNV A486A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.43 82700 chr10 129904017 129904017 G C rs370136740 MKI67 Nonsynonymous SNV H1669Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.82 82701 chr10 30317152 30317152 C A rs767806201 JCAD Nonsynonymous SNV G642V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.696 82702 chr5 6753103 6753103 C G rs371319991 TENT4A Nonsynonymous SNV P713A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.584 82703 chr11 47364162 47364162 C T rs397515912 MYBPC3 Nonsynonymous SNV G531R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 82704 chr11 2441589 2441589 C T rs61741881 TRPM5 Nonsynonymous SNV G171D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 82705 chr11 2443468 2443468 C A rs79388781 TRPM5 Synonymous SNV L67L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 82706 chr11 48188908 48188908 C A rs35920791 PTPRJ Synonymous SNV I1336I 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 Benign 16.5 82707 chr11 1018400 1018400 G A rs748438008 MUC6 Synonymous SNV H1467H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.867 82708 chr10 135013092 135013092 G A rs141484172 KNDC1 Synonymous SNV A963A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.985 82709 chr11 30921166 30921166 C T rs117396197 DCDC1 Nonsynonymous SNV E667K 0.006 0.016 0.007 2 7 6 0.005 2 0 0 0 0 19.17 82710 chr11 35461193 35461193 G A rs142502220 PAMR1 Nonsynonymous SNV P250L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 82711 chr5 79647678 79647678 T G rs200059280 CRSP8P 0 0 0.014 0 0 0 0 4 0 0 0 0 7.095 82712 chr10 29136175 29136175 C T rs41283728 C10orf126 0.011 0.021 0.014 8 13 8 0.021 4 0 0 0 0 2.115 82713 chr11 36615697 36615697 C T rs150762709 RAG2 Nonsynonymous SNV V8I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 20.2 82714 chr11 1078517 1078517 C T rs570706055 MUC2 Nonsynonymous SNV P242L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 82715 chr11 108183194 108183194 A C rs150757822 ATM Nonsynonymous SNV K1992T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 82716 chr10 90579993 90579993 C A rs200206641 LIPM Nonsynonymous SNV T336N 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 24.2 82717 chr1 40717069 40717069 A C TMCO2 Nonsynonymous SNV N118H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 82718 chr5 82838056 82838056 G A rs139453864 VCAN Synonymous SNV E2091E 0.009 0 0.007 2 10 0 0.005 2 0 0 0 1 Benign/Likely benign 11.91 82719 chr11 433417 433417 C T rs150163423 ANO9 Nonsynonymous SNV D83N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.329 82720 chr5 87969078 87969078 - A LINC00461 0 0 0.003 0 0 0 0 1 0 0 0 0 82721 chr11 110104138 110104138 G T rs138560358 RDX Nonsynonymous SNV P124T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.163 82722 chr10 94733904 94733904 C T rs62642545 EXOC6 Nonsynonymous SNV S520F 0.003 0.005 0.014 6 4 2 0.015 4 0 0 0 0 22.9 82723 chr10 24762790 24762790 G A rs150047311 KIAA1217 Nonsynonymous SNV G212S 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 23.3 82724 chr11 4470871 4470871 C T rs111665527 OR52K2 Nonsynonymous SNV A101V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.966 82725 chr10 38121630 38121630 T C rs139468173 ZNF248 Nonsynonymous SNV K218R 0.003 0.005 0.01 7 3 2 0.018 3 0 0 0 0 2.55 82726 chr1 43774660 43774660 G A rs1008882697 TIE1 Nonsynonymous SNV R304Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 82727 chr1 43782900 43782900 G A rs149581858 TIE1 Nonsynonymous SNV G769R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29.7 82728 chr10 95931011 95931011 A G rs61751494 PLCE1 Nonsynonymous SNV I215V 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.774 82729 chr1 43919298 43919298 C T rs551641144 HYI Nonsynonymous SNV G56E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 82730 chr10 96006281 96006281 G A rs61751498 PLCE1 Nonsynonymous SNV S692N 0.008 0.01 0.01 1 9 4 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.74 82731 chr10 29169383 29169383 A G rs17692695 C10orf126 0.029 0.031 0 9 34 12 0.023 0 0 0 0 0 9.857 82732 chr11 113604503 113604503 C T rs61749021 ZW10 Synonymous SNV A751A 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 16.18 82733 chr5 96093165 96093165 A G CAST Synonymous SNV P439P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.748 82734 chr10 29822056 29822056 C T rs149688596 SVIL Nonsynonymous SNV G414R 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 0.921 82735 chr10 97154424 97154424 T C rs147078270 SORBS1 Nonsynonymous SNV N303S 0 0.008 0.014 1 0 3 0.003 4 0 0 0 0 2.096 82736 chr5 96225080 96225083 TCTT - rs139846343 ERAP2 S349Cfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 82737 chr11 114401464 114401464 A - NXPE1 F89Sfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 82738 chr11 114442141 114442141 A G rs191193816 NXPE4 Nonsynonymous SNV V385A 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 26.9 82739 chr10 6257261 6257261 G A rs149555675 PFKFB3 Nonsynonymous SNV E74K 0.011 0.005 0 2 13 2 0.005 0 1 0 0 0 25.7 82740 chr6 100838764 100838764 G C SIM1 Nonsynonymous SNV L592V 0 0 0.003 0 0 0 0 1 0 0 0 0 21 82741 chr10 64430019 64430019 C T rs74796802 ZNF365 Synonymous SNV H203H 0.011 0.008 0.017 4 13 3 0.01 5 0 0 0 0 7.666 82742 chr10 64573519 64573519 C T rs543533673 EGR2 Synonymous SNV R293R 0.003 0 0 4 4 0 0.01 0 0 0 0 0 4.571 82743 chr11 117267899 117267899 T C rs527615343 CEP164 Nonsynonymous SNV M1127T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 82744 chr6 106967196 106967196 C T CRYBG1 Nonsynonymous SNV P297S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.03 82745 chr10 99344567 99344567 C T rs201803986 HOGA1 Nonsynonymous SNV A36V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.87 82746 chr6 109665304 109665304 A G rs749575085 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.5 82747 chr11 118769680 118769680 C T BCL9L Nonsynonymous SNV R1315Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 82748 chr6 109752445 109752445 A G rs199983515 PPIL6 Nonsynonymous SNV V80A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.298 82749 chr11 100211913 100211913 C T rs201089070 CNTN5 Synonymous SNV N928N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.5 82750 chr1 48865121 48865121 C T rs77303590 SPATA6 Nonsynonymous SNV E214K 0.012 0.018 0.014 6 14 7 0.015 4 0 0 0 0 26.6 82751 chr10 390962 390962 G A rs151164098 DIP2C Nonsynonymous SNV T1107M 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 31 82752 chr11 1016756 1016756 G A rs537530758 MUC6 Synonymous SNV S2015S 0.003 0.003 0.027 2 4 1 0.005 8 0 0 0 0 6.411 82753 chr1 145561120 145561120 G A ANKRD35 Nonsynonymous SNV G180S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.97 82754 chr1 53544289 53544289 C T rs11206087 PODN Synonymous SNV N417N 0.026 0.016 0.02 10 31 6 0.026 6 1 0 0 0 13.95 82755 chr1 146643580 146643580 G A rs34838459 PRKAB2 Synonymous SNV L48L 0.044 0.036 0.044 20 52 14 0.051 13 3 0 1 1 10.16 82756 chr1 146656097 146656097 C T rs72708554 FMO5 Nonsynonymous SNV G457R 0.044 0.036 0.048 20 52 14 0.051 14 3 0 1 1 1.933 82757 chr1 53558366 53558366 T C rs12129653 SLC1A7 Synonymous SNV S225S 0.027 0.021 0.041 11 32 8 0.028 12 1 0 1 0 0.021 82758 chr6 112671196 112671196 G C rs150983700 RFPL4B Nonsynonymous SNV D96H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.793 82759 chr10 72291060 72291060 C T rs750397651 PALD1 Synonymous SNV F161F 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 15.14 82760 chr6 116289797 116289797 C T rs147589562 FRK Nonsynonymous SNV S191N 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 1.674 82761 chr1 151276116 151276116 A C rs778524223 PI4KB Nonsynonymous SNV V142G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.93 82762 chr10 62149205 62149205 C G rs141511303 ANK3 Nonsynonymous SNV R31P 0.003 0.003 0 8 3 1 0.021 0 0 0 0 0 25.3 82763 chr10 62545524 62545524 C T rs373485880 CDK1 Synonymous SNV Y99Y 0.003 0.003 0 7 3 1 0.018 0 0 0 0 0 10.39 82764 chr11 12316358 12316358 - CCTCCC rs769778469 MICALCL P470_T471insPP 0.015 0.005 0.003 8 18 2 0.021 1 0 0 0 0 82765 chr10 73377020 73377020 A G rs539249395 CDH23 Nonsynonymous SNV N335S 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 22.9 82766 chr1 152081301 152081301 G C rs71625154 TCHH Synonymous SNV R1464R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.8 82767 chr6 12121872 12121872 G A HIVEP1 Nonsynonymous SNV R615K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.265 82768 chr6 121452873 121452873 T C rs369584864 TBC1D32 Synonymous SNV L933L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 2.759 82769 chr11 123848064 123848064 G A rs17759447 OR10S1 Nonsynonymous SNV A112V 0.014 0.003 0.01 7 17 1 0.018 3 0 0 0 0 0.121 82770 chr6 123038969 123038969 C A rs780055354 PKIB Nonsynonymous SNV D10E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 82771 chr1 153598904 153598904 G C rs113541380 S100A13 Synonymous SNV T15T 0.016 0.01 0.003 3 19 4 0.008 1 1 0 0 0 4.051 82772 chr1 153946189 153946189 G C rs41265209 CREB3L4 Nonsynonymous SNV G331R 0.017 0.013 0.007 5 20 5 0.013 2 1 0 0 0 14.91 82773 chr11 55703326 55703326 G A rs149237074 OR5I1 Nonsynonymous SNV P184L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 19.46 82774 chr1 154143940 154143940 C T TPM3 Synonymous SNV E160E 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 7.67 82775 chr10 70987024 70987024 G A rs145939161 HKDC1 Nonsynonymous SNV R42Q 0.01 0.008 0 6 12 3 0.015 0 0 0 0 0 25.3 82776 chr11 55761182 55761182 C G rs140279868 OR5F1 Nonsynonymous SNV R307T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.02 82777 chr6 131466477 131466477 A T AKAP7 Synonymous SNV S24S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 82778 chr6 131466481 131466481 G T AKAP7 Stop gain E26X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 82779 chr11 4936344 4936344 A G rs147494827 OR51G2 Nonsynonymous SNV C184R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 82780 chr10 72061191 72061191 G A rs148026278 LRRC20 Synonymous SNV A108A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.43 82781 chr6 134436549 134436549 C T rs73556750 HMGA1P7 0 0 0.068 0 0 0 0 20 0 0 2 0 0.226 82782 chr10 89621878 89621878 G C rs908223198 KLLN Nonsynonymous SNV R123G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 82783 chr10 5926034 5926034 T C rs3750656 ANKRD16 Synonymous SNV Q195Q 0.014 0.021 0.017 8 16 8 0.021 5 0 0 0 1 0.87 82784 chr10 5929962 5929962 G C rs2296136 ANKRD16 Nonsynonymous SNV A128G 0.014 0.021 0.017 8 16 8 0.021 5 0 0 0 1 25.3 82785 chr10 5931230 5931230 C T rs3750659 ANKRD16 Nonsynonymous SNV G30R 0.013 0.016 0.007 8 15 6 0.021 2 0 0 0 1 17.85 82786 chr10 5979117 5979117 T C rs2274033 FBH1 Synonymous SNV C1002C 0.014 0.018 0.017 8 16 7 0.021 5 0 0 0 1 12.81 82787 chr10 6010864 6010864 G A rs8177777 IL15RA Nonsynonymous SNV A74V 0.009 0.013 0.017 6 11 5 0.015 5 0 0 0 0 1.398 82788 chr11 102248290 102248290 C G BIRC2 Nonsynonymous SNV P477R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 82789 chr10 90695095 90695095 G C ACTA2 Nonsynonymous SNV S340C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 82790 chr10 61022303 61022303 G A rs140430636 FAM13C Nonsynonymous SNV P376L 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 19.63 82791 chr1 156616814 156616814 C G rs115373136 BCAN Nonsynonymous SNV R105G 0.006 0.01 0.014 5 7 4 0.013 4 0 0 0 0 Benign 26.2 82792 chr10 931615 931615 T C rs753623530 LARP4B Nonsynonymous SNV Q16R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26 82793 chr10 73569677 73569677 C T rs370184182 CDH23 Synonymous SNV N701N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.5 82794 chr10 94238544 94238544 C T rs779913661 IDE Nonsynonymous SNV R26H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.51 82795 chr10 94834718 94834718 A G rs772442377 CYP26A1 Synonymous SNV Q199Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.058 82796 chr11 5462553 5462553 G C rs148172421 OR51I1 Nonsynonymous SNV F64L 0.003 0.01 0.014 1 4 4 0.003 4 0 0 1 0 21 82797 chr10 74899111 74899111 A G rs3736517 ECD Synonymous SNV A416A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.115 82798 chr10 75010635 75010635 G C rs117510230 MRPS16 Nonsynonymous SNV T130R 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.411 82799 chr11 10603470 10603470 C T rs372063743 MRVI1 Synonymous SNV L453L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.447 82800 chr6 151130805 151130805 C T rs376799701 PLEKHG1 Nonsynonymous SNV R366C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 82801 chr11 129722512 129722512 C T rs115605173 TMEM45B Synonymous SNV L45L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.993 82802 chr10 70405901 70405901 T C rs10998363 TET1 Synonymous SNV L1139L 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 0.953 82803 chr10 75884157 75884157 G T rs16931199 AP3M1 Synonymous SNV I379I 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 10.89 82804 chr10 70765570 70765570 T C rs191873145 KIFBP Nonsynonymous SNV Y230H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 82805 chr10 70863699 70863699 C T rs4892 SRGN Synonymous SNV S44S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 13.81 82806 chr10 70940052 70940052 C T rs33998366 SUPV3L1 Nonsynonymous SNV S2F 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 29.2 82807 chr11 130340921 130340921 C T rs764405782 ADAMTS15 Synonymous SNV G609G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 82808 chr10 70940066 70940066 C T rs12251842 SUPV3L1 Synonymous SNV L7L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.44 82809 chr11 1093088 1093088 - TACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCACCACCACCACCACGGTGACCCCAACCCCAACACCCACTGGCACACAGGCCCCAACCCCAGCAGCCATCACCACCACCAG MUC2 T1651_T1652insPTPITTTTTVTPTPTPTGTQAPTPAAITTTSTVTPTPTPTGTQTPT 0.002 0.003 0 0 2 1 0 0 0 0 0 0 82810 chr11 133778980 133778980 T C rs138072592 IGSF9B Nonsynonymous SNV H1433R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 19.63 82811 chr11 133790668 133790668 G A rs201156438 IGSF9B Synonymous SNV Y984Y 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.338 82812 chr11 1098789 1098789 G A rs769445160 MUC2 Nonsynonymous SNV D2387N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.07 82813 chr10 71265955 71265955 A G rs75685637 TSPAN15 Nonsynonymous SNV T145A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.489 82814 chr11 134217300 134217300 C T rs138604285 GLB1L2 Synonymous SNV H177H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.74 82815 chr10 99120352 99120352 G A rs200931243 RRP12 Synonymous SNV H1097H 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 3.129 82816 chr10 99125950 99125950 G A rs61731893 RRP12 Synonymous SNV H1044H 0.016 0.013 0 9 19 5 0.023 0 1 0 0 0 12.39 82817 chr6 152702821 152702821 G A rs214959 SYNE1-AS1 0 0 0.204 0 0 0 0 60 0 0 28 0 Benign 4.081 82818 chr1 89473453 89473453 A G rs114910977 GBP3 Nonsynonymous SNV L447P 0.011 0.01 0.01 9 13 4 0.023 3 0 1 0 0 13.54 82819 chr10 87484171 87484171 G A rs761861163 GRID1 Nonsynonymous SNV P599L 0.002 0.003 0 8 2 1 0.021 0 0 0 0 0 14.6 82820 chr10 99225846 99225846 C T rs17112809 MMS19 Nonsynonymous SNV V428I 0.032 0.026 0.014 11 38 10 0.028 4 1 0 0 0 3.721 82821 chr6 155458373 155458373 T C rs45583335 TIAM2 Synonymous SNV D419D 0.013 0.013 0.027 4 15 5 0.01 8 1 0 0 0 0.003 82822 chr6 157100023 157100023 - GGA rs797045287 ARID1B G328_A329insG 0 0 0.003 0 0 0 0 1 0 0 0 0 82823 chr6 157150496 157150496 A G rs17318151 ARID1B Nonsynonymous SNV I560V 0.021 0.021 0.007 4 25 8 0.01 2 2 0 0 0 Benign 0.001 82824 chr10 99995247 99995247 G T rs35145638 R3HCC1L Nonsynonymous SNV A700S 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 27.4 82825 chr11 100064351 100064351 A G CNTN5 Nonsynonymous SNV I540V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 82826 chr11 17393664 17393664 C T rs192390700 NCR3LG1 Nonsynonymous SNV R324W 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 15.9 82827 chr10 90580249 90580249 C T rs180702258 LIPM Synonymous SNV A421A 0.006 0.008 0.014 8 7 3 0.021 4 0 0 0 0 12.65 82828 chr1 167663476 167663476 A G rs7554805 RCSD1 Synonymous SNV A83A 0.003 0.013 0.007 3 4 5 0.008 2 0 1 0 0 8.66 82829 chr1 92200448 92200448 C T rs17883665 TGFBR3 Synonymous SNV R151R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.84 82830 chr10 73574873 73574873 C T rs55717455 CDH23 Synonymous SNV P163P 0.009 0.003 0.014 6 10 1 0.015 4 0 0 0 0 Benign/Likely benign 17.01 82831 chr10 92656145 92656145 T C rs146033404 RPP30 Synonymous SNV H231H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 0.921 82832 chr10 93756324 93756324 G T BTAF1 Nonsynonymous SNV A1170S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.6 82833 chr11 11470332 11470332 G T rs774858488 GALNT18 Synonymous SNV R129R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.184 82834 chr11 18585550 18585550 - A rs34386323 UEVLD 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 82835 chr10 93999905 93999905 G T rs887909133 CPEB3 Nonsynonymous SNV P68Q 0.003 0.005 0 6 3 2 0.015 0 0 0 0 0 22.4 82836 chr1 93736337 93736337 - CCT rs560046022 CCDC18 K1439delinsNL 0.001 0 0 0 1 0 0 0 0 0 0 0 82837 chr11 18735597 18735597 C T rs77549097 IGSF22 Nonsynonymous SNV G633R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 27.2 82838 chr10 7622003 7622003 T C rs961706455 ITIH5 Nonsynonymous SNV Q164R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.088 82839 chr6 160560824 160560824 G A rs34130495 SLC22A1 Nonsynonymous SNV G401S 0.007 0.008 0.007 3 8 3 0.008 2 1 0 0 0 26.9 82840 chr6 160645751 160645751 G A rs8177521 SLC22A2 Synonymous SNV A529A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.005 82841 chr1 99203835 99203835 G T rs142855709 SNX7 Nonsynonymous SNV A335S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 82842 chr6 161137766 161137766 G A rs143034754 PLG Nonsynonymous SNV R253H 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Likely benign 24.1 82843 chr10 96117084 96117084 G C rs45484894 NOC3L Nonsynonymous SNV P119A 0.008 0.008 0 7 9 3 0.018 0 0 0 0 0 21.7 82844 chr10 96162619 96162619 G A rs146846523 TBC1D12 Synonymous SNV P83P 0.006 0.005 0 7 7 2 0.018 0 0 0 0 0 14.18 82845 chr10 96201755 96201755 A G rs192668854 TBC1D12 Synonymous SNV K358K 0.007 0.003 0 7 8 1 0.018 0 0 0 0 0 2.187 82846 chr1 101196836 101196836 C T rs747528960 VCAM1 Synonymous SNV S337S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 82847 chr10 96447562 96447562 T A rs41291550 CYP2C18 Stop gain Y68X 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 35 82848 chr10 96484153 96484153 T C rs41286882 CYP2C18 Nonsynonymous SNV C279R 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 15.69 82849 chr10 96495161 96495161 G A rs41286884 CYP2C18 Nonsynonymous SNV R419H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.416 82850 chr10 96535173 96535173 T C rs41291556 CYP2C19 Nonsynonymous SNV W120R 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 drug response 25.7 82851 chr1 108023246 108023246 C T rs201741317 NTNG1 Synonymous SNV D367D 0.003 0 0 0 3 0 0 0 0 0 0 0 4.772 82852 chr1 108152557 108152557 G T rs138334746 VAV3 Nonsynonymous SNV P111T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 16.87 82853 chr6 167728814 167728814 G T rs41266327 UNC93A Synonymous SNV G374G 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 2.004 82854 chr6 168070425 168070425 C T rs4708607 LINC02538 0 0 0.068 0 0 0 0 20 0 0 1 0 6.513 82855 chr6 168297647 168297647 A G rs35140809 AFDN Nonsynonymous SNV I422V 0.009 0.013 0.031 5 11 5 0.013 9 0 0 0 0 Uncertain significance 24.2 82856 chr10 97755944 97755944 A G rs190077771 CC2D2B Synonymous SNV V928V 0.003 0.008 0 7 4 3 0.018 0 0 0 0 0 21.6 82857 chr1 109514115 109514115 C T rs139179400 WDR47 Synonymous SNV Q907Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.916 82858 chr1 109714635 109714635 C T rs34364548 KIAA1324 Synonymous SNV F103F 0.02 0.016 0.014 3 23 6 0.008 4 0 0 0 0 12.2 82859 chr1 178834663 178834663 C T rs896828505 ANGPTL1 Nonsynonymous SNV M83I 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 14.66 82860 chr1 179609549 179609549 C T rs147735255 TDRD5 Nonsynonymous SNV P145L 0.013 0.016 0 5 15 6 0.013 0 0 0 0 0 34 82861 chr6 17629059 17629059 T C rs144294630 NUP153 Nonsynonymous SNV N1082S 0.011 0.013 0.01 9 13 5 0.023 3 0 0 0 0 0.001 82862 chr11 57182139 57182139 G A rs767324170 SLC43A3 Synonymous SNV L337L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.9 82863 chr11 2631564 2631564 C T rs144313257 KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.959 82864 chr6 19838414 19838414 C T rs758686970 ID4 Synonymous SNV L143L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.944 82865 chr10 99371365 99371365 C T rs561984280 HOGA1 Synonymous SNV P148P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.39 82866 chr10 99667901 99667901 C G CRTAC1 Nonsynonymous SNV G240A 0 0 0 3 0 0 0.008 0 0 0 0 0 24.3 82867 chr6 26199978 26199978 C T rs367933132 HIST1H2BF Synonymous SNV N64N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 10.37 82868 chr6 2624053 2624053 T A rs17135340 LINC01600 0 0 0.126 0 0 0 0 37 0 0 1 0 0.417 82869 chr1 112524680 112524680 C G rs17215423 KCND3 Synonymous SNV S223S 0.015 0.021 0.007 10 18 8 0.026 2 0 0 0 0 Benign 11.12 82870 chr1 113237212 113237212 C T rs200051144 MOV10 Nonsynonymous SNV P478L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.554 82871 chr6 27100293 27100293 G A rs369739205 HIST1H2BJ Synonymous SNV S79S 0 0 0.01 1 0 0 0.003 3 0 0 0 0 2.075 82872 chr6 27368795 27368795 A G rs762026163 ZNF391 Nonsynonymous SNV T216A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 82873 chr6 33554257 33554257 A G rs407710 LINC00336 0 0 0.054 0 0 0 0 16 0 0 5 0 1.496 82874 chr11 58979668 58979668 G A rs199564440 MPEG1 Nonsynonymous SNV S224F 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 23.4 82875 chr11 124539391 124539391 T C rs751436066 SIAE Nonsynonymous SNV I32V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.001 82876 chr1 200534255 200534255 T A rs77157287 KIF14 Nonsynonymous SNV E847V 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 Likely benign 16.15 82877 chr11 57256834 57256834 G A rs765376956 SLC43A1 Nonsynonymous SNV R409C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 82878 chr11 5922527 5922527 G A rs1035502987 OR52E5 Nonsynonymous SNV R178Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.73 82879 chr11 124764191 124764191 G A rs747419484 ROBO4 Synonymous SNV I263I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.2 82880 chr11 598481 598481 G T rs182144037 PHRF1 Nonsynonymous SNV A335S 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 16.9 82881 chr1 119530252 119530252 G C rs541031973 TBX15 Nonsynonymous SNV T56R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.48 82882 chr1 120307180 120307180 G A rs138739620 HMGCS2 Synonymous SNV A58A 0.003 0 0.003 3 4 0 0.008 1 1 0 0 0 Conflicting interpretations of pathogenicity 7.627 82883 chr6 37475244 37475244 G A rs35231469 LINC02520 0 0 0.092 0 0 0 0 27 0 0 1 0 3.463 82884 chr6 37475274 37475274 A T rs13194564 LINC02520 0 0 0.109 0 0 0 0 32 0 0 1 0 1.759 82885 chr11 60718478 60718478 G A rs766970798 SLC15A3 Synonymous SNV F182F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.51 82886 chr1 201777690 201777690 C T rs75689268 NAV1 Synonymous SNV N936N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 12.33 82887 chr1 150529761 150529761 C T rs763431694 ADAMTSL4 Nonsynonymous SNV A666V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 82888 chr11 126081400 126081400 C T rs201150293 RPUSD4 Nonsynonymous SNV R45K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.097 82889 chr11 61018642 61018642 C T rs12280940 PGA5 Synonymous SNV N352N 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 13.32 82890 chr11 61042040 61042040 G A rs11230654 VWCE Synonymous SNV H504H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.549 82891 chr11 61058395 61058395 G C rs7945020 VWCE Synonymous SNV T100T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.006 82892 chr11 126215400 126215400 C T rs148207687 DCPS Synonymous SNV I309I 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign 18.56 82893 chr11 61912714 61912714 A C rs200650268 INCENP Nonsynonymous SNV K593Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 82894 chr1 204426183 204426183 C A rs61762602 PIK3C2B Nonsynonymous SNV A577S 0.014 0.016 0.003 3 17 6 0.008 1 1 0 0 0 20.6 82895 chr1 152671385 152671385 G A rs80271068 LCE2A Nonsynonymous SNV C3Y 0.034 0.042 0.041 23 40 16 0.059 12 0 1 0 1 15.4 82896 chr1 204966513 204966513 G A rs544368955 NFASC Nonsynonymous SNV G1000R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.22 82897 chr11 1606129 1606129 A C rs76191756 KRTAP5-1 Synonymous SNV G117G 0.003 0.008 0 5 3 3 0.013 0 1 0 0 0 0.02 82898 chr11 1606138 1606138 T G rs80025267 KRTAP5-1 Synonymous SNV G114G 0.002 0.003 0 1 2 1 0.003 0 1 0 0 0 0.036 82899 chr11 1606147 1606147 A G rs138363822 KRTAP5-1 Synonymous SNV S111S 0.002 0.003 0 0 2 1 0 0 1 0 0 0 0.015 82900 chr6 43322525 43322525 T C rs148163157 ZNF318 Synonymous SNV K849K 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 0.001 82901 chr6 43970931 43970931 G A rs142009321 C6orf223 0.001 0 0.017 1 1 0 0.003 5 0 0 0 0 9.056 82902 chr6 44272382 44272382 C T rs78525157 AARS2 Synonymous SNV E584E 0.018 0.016 0.014 3 21 6 0.008 4 0 0 0 0 Benign 11.8 82903 chr6 44403438 44403438 A G rs67182313 MIR4642 0 0 0.184 0 0 0 0 54 0 0 7 0 0.337 82904 chr6 45290634 45290634 G A rs9472463 SUPT3H Nonsynonymous SNV T7M 0.009 0.008 0.017 7 11 3 0.018 5 0 0 0 0 26.3 82905 chr11 12316384 12316389 CTCCTA - rs199786165 MICALCL P470_T471del 0.005 0 0 0 6 0 0 0 0 0 0 0 82906 chr11 123598898 123598898 T C rs61767139 ZNF202 Nonsynonymous SNV K35E 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 26.3 82907 chr6 46657034 46657034 G A rs139287058 TDRD6 Nonsynonymous SNV R390Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 82908 chr11 101981900 101981900 - GCCA rs753637845 YAP1 Frameshift insertion T110Qfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 82909 chr11 102098314 102098314 - GATACTATCAACCAAAGCACCCTGCCCTCACAGCAGAACCGTTTCCCAGAC YAP1 0.001 0 0 0 1 0 0 0 0 0 0 0 82910 chr6 46996760 46996760 G A rs143669522 ADGRF1 Nonsynonymous SNV T13I 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 7.051 82911 chr11 60775229 60775229 C G rs576602370 CD6 Nonsynonymous SNV P106A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.047 82912 chr11 639974 639974 G C rs770385372 DRD4 Nonsynonymous SNV G242A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.003 82913 chr6 47846486 47846486 G A rs150275743 PTCHD4 Synonymous SNV G698G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.461 82914 chr11 64056551 64056551 C T rs201737201 GPR137 Nonsynonymous SNV R319W 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 6.928 82915 chr11 610300 610300 A G rs201244128 PHRF1 Nonsynonymous SNV S1457G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.002 82916 chr11 1977627 1977627 G C rs151012849 MRPL23 Nonsynonymous SNV V147L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.286 82917 chr11 199492 199492 G A rs72878024 ODF3 Nonsynonymous SNV A220T 0.059 0.065 0.044 27 69 25 0.069 13 5 0 0 1 25.2 82918 chr11 64359170 64359170 C T rs1008748243 SLC22A12 Nonsynonymous SNV R48C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 32 82919 chr1 156567863 156567863 A G rs150650489 GPATCH4 Synonymous SNV H104H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.554 82920 chr11 124530664 124530664 T C rs78778622 SIAE Nonsynonymous SNV M89V 0.029 0.013 0.017 5 34 5 0.013 5 0 0 0 0 risk factor 0.083 82921 chr11 117232648 117232648 C G rs149806421 CEP164 Nonsynonymous SNV S164C 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 26.2 82922 chr11 124745041 124745041 G A rs121918271 ROBO3 Nonsynonymous SNV R703Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 82923 chr11 61897421 61897423 CTT - INCENP S143del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 82924 chr6 54054678 54054678 C T rs373831421 MLIP Nonsynonymous SNV S317F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 82925 chr11 1078536 1078536 C T rs61732147 MUC2 Synonymous SNV R248R 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 6.828 82926 chr11 117307917 117307917 G A rs769549585 DSCAML1 Synonymous SNV Y1547Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.72 82927 chr1 157789820 157789820 G A rs139157759 FCRL1 Nonsynonymous SNV P3L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 22.2 82928 chr11 210660 210660 C G rs34925440 RIC8A Nonsynonymous SNV H272Q 0.026 0.034 0.024 9 30 13 0.023 7 2 0 0 0 20.8 82929 chr1 216270485 216270485 C T rs143218330 USH2A Synonymous SNV Q1566Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.04 82930 chr11 22239808 22239808 A G rs143777403 ANO5 Nonsynonymous SNV N51S 0.001 0.01 0.003 2 1 4 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 82931 chr11 125365372 125365372 C G rs185456739 LOC403312 Nonsynonymous SNV R50G 0.006 0.013 0.003 0 7 5 0 1 0 0 0 0 0.146 82932 chr11 118083240 118083240 G A rs150593418 JAML Nonsynonymous SNV P17L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.27 82933 chr11 1098772 1098772 A G rs776469468 MUC2 Nonsynonymous SNV Q2381R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 82934 chr6 56483679 56483679 T G rs45487998 DST Nonsynonymous SNV K1718T 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.873 82935 chr11 118486839 118486839 C A rs782379331 PHLDB1 Nonsynonymous SNV L90M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.41 82936 chr11 111594238 111594238 C T rs56000295 SIK2 Synonymous SNV L722L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.21 82937 chr11 118894044 118894044 G A TRAPPC4 Nonsynonymous SNV D106N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 34 82938 chr11 118895666 118895666 C T rs782694611 SLC37A4 Nonsynonymous SNV R415Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.8 82939 chr11 62446179 62446179 G C rs142782985 UBXN1 Nonsynonymous SNV I32M 0.006 0.003 0 0 7 1 0 0 0 0 0 0 26.8 82940 chr11 5443682 5443682 G A rs151161477 OR51Q1 Nonsynonymous SNV M84I 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 22.4 82941 chr11 11974335 11974335 C T rs188393396 USP47 Nonsynonymous SNV R1037W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 82942 chr1 225533749 225533749 A - rs755167839 DNAH14 T3589Qfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 82943 chr11 6550275 6550275 C G rs969650174 DNHD1 Synonymous SNV V757V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.36 82944 chr1 159166331 159166331 T C rs147402145 CADM3-AS1 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 2.073 82945 chr6 73843207 73843207 C T rs146011748 KCNQ5 Synonymous SNV S428S 0.007 0.008 0.01 1 8 3 0.003 3 0 0 0 0 13.42 82946 chr11 120319028 120319028 G T rs781394851 ARHGEF12 Nonsynonymous SNV G551C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 32 82947 chr6 73933539 73933539 G A rs200612558 KHDC1L Stop gain R107X 0 0 0.007 0 0 0 0 2 0 0 0 0 34 82948 chr6 7395350 7395350 G A rs55698032 RIOK1 Nonsynonymous SNV R10Q 0.009 0.005 0.003 8 11 2 0.021 1 0 0 0 0 24.3 82949 chr1 225706943 225706943 C T rs1340868 ENAH Synonymous SNV R253R 0.041 0.029 0.044 14 48 11 0.036 13 1 0 1 1 21.5 82950 chr1 226183044 226183044 G A rs374537611 SDE2 Nonsynonymous SNV A54V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 82951 chr11 114569240 114569240 T C NXPE2 Synonymous SNV A202A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.11 82952 chr11 116658654 116658654 G A rs201399491 ZPR1 Nonsynonymous SNV P18L 0.006 0.003 0 5 7 1 0.013 0 0 0 0 1 16.91 82953 chr11 122667689 122667689 C T rs141469408 UBASH3B Synonymous SNV Y400Y 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.58 82954 chr11 640051 640051 G T rs557382507 DRD4 Nonsynonymous SNV G268C 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 1.3 82955 chr11 6579123 6579123 T C DNHD1 Synonymous SNV H2866H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.006 82956 chr11 55406683 55406683 A G rs372495212 OR4P4 Nonsynonymous SNV I284V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 82957 chr11 129807506 129807506 C T rs146623528 PRDM10 Synonymous SNV E256E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.74 82958 chr1 161068428 161068428 G A rs138686208 KLHDC9 Nonsynonymous SNV E35K 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 25 82959 chr11 6590007 6590007 C G rs370634504 DNHD1 Synonymous SNV P4258P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.1 82960 chr6 79944469 79944469 G A rs12193393 HMGN3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 82961 chr11 6645522 6645522 C T rs117140835 DCHS1 Nonsynonymous SNV R2462Q 0.009 0.021 0.014 9 10 8 0.023 4 0 1 0 0 25.6 82962 chr11 35226083 35226083 C T rs11607491 CD44 Nonsynonymous SNV T350M 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 Benign 8.581 82963 chr11 123886819 123886819 G A rs150347384 OR10G4 Nonsynonymous SNV A180T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.72 82964 chr11 66802292 66802292 G A rs145380363 SYT12 Nonsynonymous SNV A71T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.31 82965 chr6 88107770 88107770 C T rs926946 LINC01590 0 0 0.204 0 0 0 0 60 0 0 28 0 4.645 82966 chr11 56114297 56114297 G A rs148232603 OR8K1 Synonymous SNV L261L 0.001 0.003 0.01 4 1 1 0.01 3 0 0 0 0 1.319 82967 chr1 231114420 231114420 A C rs114508011 TTC13 Nonsynonymous SNV S53A 0.018 0.008 0 10 21 3 0.026 0 1 0 0 1 20.2 82968 chr11 67258444 67258444 C A rs765927395 AIP Synonymous SNV R266R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 19.03 82969 chr11 373798 373798 C T rs201612132 B4GALNT4 Synonymous SNV D251D 0.004 0.008 0 2 5 3 0.005 0 1 0 0 0 19.07 82970 chr11 11986113 11986113 C T rs12798005 DKK3 Synonymous SNV V317V 0.003 0.01 0.007 2 4 4 0.005 2 0 0 0 0 16.66 82971 chr11 121461799 121461799 A T rs146353234 SORL1 Nonsynonymous SNV T1435S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 5.037 82972 chr1 235345877 235345877 A G rs139208138 ARID4B Nonsynonymous SNV I700T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.131 82973 chr11 17615656 17615656 G A rs146781877 OTOG Synonymous SNV P1129P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 13.57 82974 chr11 68704308 68704308 C T rs141594765 IGHMBP2 Nonsynonymous SNV P787L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.09 82975 chr7 100417489 100417489 G A rs200232840 EPHB4 Synonymous SNV S329S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 82976 chr11 44640225 44640225 G A rs74375347 CD82 Synonymous SNV E201E 0.011 0.018 0.003 7 13 7 0.018 1 0 0 0 0 11.31 82977 chr11 123479502 123479502 G A rs371994802 GRAMD1B Nonsynonymous SNV R367H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 82978 chr11 123513272 123513272 G A rs199937307 SCN3B Synonymous SNV N109N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.27 82979 chr11 123813806 123813806 A G rs767000427 OR6T1 Nonsynonymous SNV V247A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 82980 chr11 1858632 1858632 C T rs138428155 SYT8 Nonsynonymous SNV R394C 0.02 0.013 0.044 9 23 5 0.023 13 0 0 0 0 23.4 82981 chr11 123847558 123847558 C T rs115356837 OR10S1 Nonsynonymous SNV A281T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.933 82982 chr11 18727500 18727500 C G rs374121144 IGSF22 Nonsynonymous SNV K1258N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.2 82983 chr11 123865815 123865815 G A rs7127148 OR10G6 Synonymous SNV N18N 0.012 0.01 0 3 14 4 0.008 0 0 0 0 0 6.607 82984 chr1 173883797 173883797 G C rs199895690 SERPINC1 Nonsynonymous SNV S101C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.97 82985 chr11 18956226 18956226 T C rs11024885 MRGPRX1 Nonsynonymous SNV I36V 0.012 0.005 0.007 3 14 2 0.008 2 0 0 0 0 0.007 82986 chr11 123908879 123908879 G A rs114086709 OR10G7 Nonsynonymous SNV T277M 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 7.908 82987 chr11 1272152 1272152 C T rs774784163 MUC5B Nonsynonymous SNV T4681I 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 4.627 82988 chr11 124007917 124007917 C T rs145888334 VWA5A Synonymous SNV D607D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 82989 chr1 245018909 245018909 G A rs11537737 HNRNPU Synonymous SNV A704A 0.005 0.01 0.003 7 6 4 0.018 1 0 1 0 0 Benign/Likely benign 11.59 82990 chr11 56237630 56237630 G A rs779710142 OR5M3 Nonsynonymous SNV A115V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.302 82991 chr11 128677121 128677121 A G rs374722269 FLI1 Synonymous SNV Q63Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.516 82992 chr11 47435022 47435022 A G rs774755322 SLC39A13 Synonymous SNV A203A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.497 82993 chr1 247040531 247040531 T C rs147658943 AHCTF1 Nonsynonymous SNV M912V 0.017 0.008 0.003 8 20 3 0.021 1 0 0 0 0 1.036 82994 chr11 66460454 66460454 C T rs894190127 SPTBN2 Nonsynonymous SNV E1658K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.01 82995 chr11 124413248 124413248 G A rs61743599 OR8B12 Synonymous SNV F101F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.245 82996 chr11 124413261 124413261 A T rs61743861 OR8B12 Nonsynonymous SNV M97K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.7 82997 chr11 66512290 66512290 - GGCGGCGGCGGC C11orf80 A34_G35insAAAA 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 82998 chr11 124626602 124626602 G A rs140721881 ESAM Nonsynonymous SNV P96S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 82999 chr11 2325349 2325349 G A rs777126996 TSPAN32 Nonsynonymous SNV G65E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 83000 chr1 180885874 180885874 C T rs114348822 KIAA1614 Nonsynonymous SNV P212L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 12.85 83001 chr11 75379247 75379247 C G rs533630603 MAP6 Synonymous SNV A56A 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 7.601 83002 chr7 100609552 100609552 G T MUC3A Nonsynonymous SNV D1372Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 83003 chr11 76867135 76867135 C T rs12420129 MYO7A Synonymous SNV I156I 0.004 0.016 0.003 0 5 6 0 1 0 0 0 0 Benign 18.69 83004 chr11 17414629 17414629 T C ABCC8 Nonsynonymous SNV K1552R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 83005 chr11 5776626 5776626 C T rs142159415 OR52N4 Nonsynonymous SNV S219F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 25.4 83006 chr11 130059741 130059741 C T ST14 Nonsynonymous SNV P183L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.31 83007 chr1 193074759 193074759 G C rs202181914 GLRX2 Nonsynonymous SNV R4G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.599 83008 chr7 100802786 100802786 A G rs11983381 MIR4653 0 0 0.163 0 0 0 0 48 0 0 4 0 2.453 83009 chr11 7847129 7847129 G A rs149500920 OR5P3 Nonsynonymous SNV L131F 0.028 0.021 0.027 8 33 8 0.021 8 0 0 0 0 13.94 83010 chr11 130319615 130319615 G T rs139507757 ADAMTS15 Synonymous SNV A249A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.05 83011 chr11 7960607 7960607 A G rs148188824 OR10A3 Nonsynonymous SNV M154T 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 0.397 83012 chr1 197087084 197087084 T C ASPM Synonymous SNV Q1300Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.808 83013 chr2 1491723 1491723 G A rs78406347 TPO Synonymous SNV A403A 0.01 0.005 0.01 0 12 2 0 3 0 0 0 0 Likely benign 13.88 83014 chr2 1544464 1544464 C T rs138289170 TPO Nonsynonymous SNV P862L 0.009 0.008 0.003 5 11 3 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.07 83015 chr1 200633056 200633056 T C rs767122459 DDX59 Synonymous SNV Q321Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.261 83016 chr11 72468845 72468845 C T rs578098555 STARD10 Nonsynonymous SNV V182I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 83017 chr11 3720551 3720551 G A rs146528708 NUP98 Nonsynonymous SNV T1210I 0.007 0.008 0 9 8 3 0.023 0 0 0 0 0 27.8 83018 chr11 73074450 73074450 C A rs745492991 ARHGEF17 Synonymous SNV V1732V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.34 83019 chr11 397204 397204 A T rs201191271 PKP3 Nonsynonymous SNV T235S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 83020 chr11 17663747 17663747 G A rs117315845 OTOG Nonsynonymous SNV R2802H 0.005 0.013 0.01 1 6 5 0.003 3 0 0 0 0 Benign/Likely benign 19.41 83021 chr11 45928462 45928462 C T rs201714776 C11orf94 Nonsynonymous SNV A45T 0.004 0 0 0 5 0 0 0 0 0 0 0 23.1 83022 chr11 76253396 76253396 C T EMSY Synonymous SNV T899T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.67 83023 chr11 60496853 60496853 T A rs140524942 MS4A18 Nonsynonymous SNV V22D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 83024 chr11 47464284 47464284 C T rs34625105 RAPSN Nonsynonymous SNV R205Q 0.008 0.003 0.003 5 9 1 0.013 1 0 0 0 0 Benign 28.3 83025 chr11 20005786 20005786 G A rs374062953 NAV2 Nonsynonymous SNV A857T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 83026 chr7 133692580 133692580 C T rs926129336 EXOC4 Synonymous SNV D893D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 13.5 83027 chr1 205210806 205210806 G A rs146869196 TMCC2 Synonymous SNV P49P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.533 83028 chr11 230474 230474 G T rs61748606 SIRT3 Nonsynonymous SNV P198H 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign 13.22 83029 chr1 205389592 205389592 G A rs7531012 LEMD1 Nonsynonymous SNV P25S 0.018 0.01 0.02 3 21 4 0.008 6 0 0 0 0 24.4 83030 chr11 62286666 62286666 C T rs114515655 AHNAK Nonsynonymous SNV V5075M 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 9.601 83031 chr11 48328121 48328121 T C rs35930119 OR4S1 Nonsynonymous SNV M116T 0.019 0.021 0.003 3 22 8 0.008 1 1 2 0 0 24.4 83032 chr11 62344743 62344743 C T rs117162358 TUT1 Nonsynonymous SNV R394H 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 34 83033 chr11 48346878 48346878 C T OR4C3 Nonsynonymous SNV A102V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.32 83034 chr11 33680333 33680333 G A rs202122987 KIAA1549L Nonsynonymous SNV E1966K 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 33 83035 chr11 33682481 33682481 C T rs768516189 KIAA1549L Nonsynonymous SNV T2027M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 83036 chr11 34938272 34938272 C G rs11539201 PDHX Nonsynonymous SNV R24G 0.035 0.029 0.044 16 41 11 0.041 13 1 0 1 0 Benign 15.8 83037 chr2 27306648 27306648 T C EMILIN1 Synonymous SNV L737L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 83038 chr11 35226171 35226171 G T rs546397935 CD44 Synonymous SNV S379S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.506 83039 chr11 27016360 27016360 G A rs138273386 FIBIN Nonsynonymous SNV R96H 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 33 83040 chr1 207646917 207646917 A G rs139230275 CR2 Nonsynonymous SNV H669R 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Likely benign 15.41 83041 chr11 36680719 36680719 G A rs61753861 C11orf74 Nonsynonymous SNV E143K 0.013 0.013 0.014 11 15 5 0.028 4 0 0 0 0 23.2 83042 chr12 103795425 103795425 C T rs117838745 C12orf42 Nonsynonymous SNV S36N 0.025 0.036 0.02 11 29 14 0.028 6 0 0 0 0 24.6 83043 chr11 640125 640125 C T DRD4 Synonymous SNV P292P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 83044 chr2 27741806 27741806 T C rs201788249 GCKR 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.3 83045 chr7 143175850 143175850 G A rs145885431 TAS2R41 Synonymous SNV S295S 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 7.248 83046 chr1 210412843 210412843 C T rs61740848 SERTAD4 Nonsynonymous SNV H61Y 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 23.1 83047 chr11 31115663 31115663 T C rs371110864 DCDC1 Synonymous SNV A684A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.052 83048 chr1 210761310 210761310 C T rs149597734 HHAT Nonsynonymous SNV T234I 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 Likely benign 33 83049 chr1 211847646 211847646 G C rs45623136 NEK2 Synonymous SNV T102T 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 Benign 6.947 83050 chr11 43356861 43356861 A G API5 Nonsynonymous SNV T265A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.79 83051 chr11 9113005 9113007 GGC - rs752603154 SCUBE2 P24del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 83052 chr7 148288199 148288199 C G C7orf33 Stop gain S61X 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 83053 chr11 4471346 4471346 C T OR52K2 Synonymous SNV I259I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.086 83054 chr7 148982455 148982455 G C rs34979431 LOC155060 0 0 0.041 0 0 0 0 12 0 0 0 0 5.705 83055 chr11 34527193 34527193 G T rs148001707 ELF5 Nonsynonymous SNV A35D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.91 83056 chr11 93554242 93554242 C G rs138835109 VSTM5 Nonsynonymous SNV R113S 0.011 0.018 0.007 2 13 7 0.005 2 0 0 0 0 21.4 83057 chr12 109181914 109181914 G A rs61739300 SSH1 Synonymous SNV T1000T 0.009 0.013 0.01 5 10 5 0.013 3 0 0 0 0 9.346 83058 chr1 216424303 216424303 A G rs45555435 USH2A Synonymous SNV D703D 0.035 0.031 0.017 12 41 12 0.031 5 1 0 0 0 Benign/Likely benign 0.684 83059 chr11 95825378 95825383 TGCTGC - MAML2 Q620_Q621del 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 83060 chr12 109186505 109186505 G A rs145141884 SSH1 Nonsynonymous SNV P495S 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 0.043 83061 chr1 217975069 217975069 A G rs147208283 SPATA17 Synonymous SNV P294P 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 10.55 83062 chr11 4703762 4703762 G A rs12576387 OR51E2 Synonymous SNV L60L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.263 83063 chr11 65293463 65293463 G A rs55662663 SCYL1 Synonymous SNV E108E 0.006 0 0 4 7 0 0.01 0 0 0 0 1 10.17 83064 chr12 110252547 110252547 G A rs3742030 TRPV4 Nonsynonymous SNV P19S 0.018 0.029 0.041 9 21 11 0.023 12 1 0 1 0 Benign 9.368 83065 chr2 37229453 37229453 G A rs145906870 HEATR5B Synonymous SNV P1771P 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 14.31 83066 chr2 37402356 37402356 C G rs45439591 SULT6B1 Nonsynonymous SNV R181S 0.023 0.036 0.017 6 27 14 0.015 5 0 0 0 0 11.89 83067 chr12 102505916 102505916 G A rs750748100 NUP37 Nonsynonymous SNV T84I 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 24.1 83068 chr2 37414548 37414548 T C rs45493492 SULT6B1 Nonsynonymous SNV K88E 0.024 0.036 0.017 6 28 14 0.015 5 0 0 0 0 7.416 83069 chr2 37414586 37414586 A T rs45626240 SULT6B1 Nonsynonymous SNV V75D 0.024 0.036 0.017 6 28 14 0.015 5 0 0 0 0 25.2 83070 chr2 37415603 37415603 C T rs45552433 SULT6B1 Nonsynonymous SNV A61T 0.022 0.031 0.017 5 26 12 0.013 5 0 0 0 0 25 83071 chr2 37543593 37543593 A G rs55698418 PRKD3 Synonymous SNV A25A 0.023 0.039 0.017 6 27 15 0.015 5 0 1 0 0 8.095 83072 chr7 1539917 1539917 G A rs373074294 INTS1 Synonymous SNV A145A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.673 83073 chr11 66192583 66192583 C T rs267603127 NPAS4 Nonsynonymous SNV S531L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.3 83074 chr2 40656841 40656841 C G SLC8A1 Nonsynonymous SNV E194Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 83075 chr7 155174774 155174774 C A rs1421324 LOC100286906 0 0 0.051 0 0 0 0 15 0 0 2 0 9.258 83076 chr7 155174802 155174807 TGTGAG - rs147883222 LOC100286906 0 0 0.122 0 0 0 0 36 0 0 3 0 83077 chr7 155187889 155187889 G A rs11763974 LOC100286906 0 0 0.122 0 0 0 0 36 0 0 3 0 0.163 83078 chr1 227170648 227170648 C T rs41303129 COQ8A Synonymous SNV F331F 0.023 0.01 0.024 12 27 4 0.031 7 0 0 0 0 Benign/Likely benign 15.72 83079 chr2 44099435 44099435 A T rs144200355 ABCG8 Nonsynonymous SNV T400S 0.009 0 0.007 4 10 0 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.02 83080 chr7 158325503 158325503 C T rs4909237 MIR595 0 0 0.167 0 0 0 0 49 0 0 4 0 6.946 83081 chr7 158384368 158384368 G A rs80128580 LINC01022, MIR5707 0 0 0.037 0 0 0 0 11 0 0 0 0 3.259 83082 chr7 158473458 158473458 C T rs182403876 NCAPG2 Synonymous SNV E325E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.293 83083 chr12 109519142 109519142 C T rs377001562 USP30 Nonsynonymous SNV P242S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.6 83084 chr11 67262411 67262411 C T rs144939807 PITPNM1 Nonsynonymous SNV R882Q 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Benign 14.59 83085 chr7 158663897 158663897 C T rs201226440 WDR60 Nonsynonymous SNV S45F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.97 83086 chr12 109634834 109634834 A G rs17848802 ACACB Nonsynonymous SNV M835V 0.014 0.029 0.007 1 17 11 0.003 2 0 0 0 0 14.08 83087 chr7 16607044 16607044 G A LRRC72 Nonsynonymous SNV M182I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 83088 chr7 19738309 19738309 T C rs770112631 TWISTNB Nonsynonymous SNV E216G 0.004 0 0.003 0 5 0 0 1 0 0 0 0 18.68 83089 chr12 11061507 11061507 G A rs142394171 TAS2R13 Synonymous SNV L131L 0.007 0.013 0.01 2 8 5 0.005 3 0 0 0 0 Benign 7.414 83090 chr7 21640530 21640530 T C rs72657304 DNAH11 Synonymous SNV L1079L 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.012 83091 chr12 111758456 111758456 G A rs200061368 CUX2 Synonymous SNV P819P 0.009 0.003 0.01 0 11 1 0 3 0 0 0 0 Benign 12.4 83092 chr12 112481561 112481561 A G rs146618811 NAA25 Synonymous SNV P706P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.905 83093 chr7 23236835 23236835 A G rs41273975 NUP42 Star tloss Y218C 0.008 0.005 0.014 2 9 2 0.005 4 0 0 0 0 10.51 83094 chr7 23626037 23626037 G C rs35821834 CLK2P1 0 0 0.02 0 0 0 0 6 0 0 0 0 5.579 83095 chr1 228559556 228559556 G A rs200605834 OBSCN Nonsynonymous SNV S7026N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.164 83096 chr2 61719182 61719182 A C rs143005485 XPO1 Synonymous SNV L625L 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 Likely benign 6.546 83097 chr7 26578105 26578105 A G rs17153822 KIAA0087, LOC441204 0 0 0.133 0 0 0 0 39 0 0 1 0 0.469 83098 chr7 27135096 27135096 G T rs45571645 HOXA1 Nonsynonymous SNV H146N 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 Benign/Likely benign 23.5 83099 chr11 7065183 7065183 G A NLRP14 Synonymous SNV K642K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.6 83100 chr12 11420866 11420866 C T rs200424060 PRB3 Nonsynonymous SNV G106E 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 0.013 83101 chr11 71720030 71720030 G A rs74985106 NUMA1 Nonsynonymous SNV R1667C 0.017 0.013 0.031 9 20 5 0.023 9 0 0 0 0 34 83102 chr7 29523574 29523574 C T CHN2 Nonsynonymous SNV R6C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.267 83103 chr7 29689929 29689929 T C rs10241305 LOC646762 0 0 0.061 0 0 0 0 18 0 0 6 0 2.406 83104 chr1 233463785 233463785 G C rs78916182 MAP3K21 Nonsynonymous SNV R4P 0.022 0.023 0 19 26 9 0.049 0 2 1 0 3 4.036 83105 chr11 72579070 72579070 A G rs144631789 FCHSD2 Nonsynonymous SNV I383T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 83106 chr11 7335028 7335028 A G rs375637261 SYT9 Synonymous SNV A300A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.965 83107 chr1 235647728 235647728 G A rs138058326 B3GALNT2 Synonymous SNV I155I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 18.78 83108 chr11 5290822 5290822 G A rs139834545 HBE1 Synonymous SNV P59P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 11.18 83109 chr11 7437285 7437285 C G rs117876446 SYT9 Nonsynonymous SNV L353V 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 29.2 83110 chr11 7530750 7530750 A C rs147179287 OLFML1 Synonymous SNV G44G 0.028 0.055 0.031 25 33 21 0.064 9 0 0 0 1 0.192 83111 chr7 35414381 35414381 T A rs144822380 LOC401324 0 0 0.003 0 0 0 0 1 0 0 0 0 5.763 83112 chr11 5510795 5510795 G A rs747297481 OR52D1 Nonsynonymous SNV V287M 0.009 0 0 2 10 0 0.005 0 0 0 0 0 25 83113 chr7 36910031 36910031 A G ELMO1 Synonymous SNV H144H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.724 83114 chr12 125587278 125587278 G A rs3763984 AACS Synonymous SNV E208E 0.012 0.008 0.017 2 14 3 0.005 5 0 0 0 0 9.651 83115 chr11 76883796 76883796 C T MYO7A Synonymous SNV G600G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 83116 chr12 122672290 122672290 C T rs371086435 LRRC43 Synonymous SNV L189L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 15.4 83117 chr11 55406614 55406614 A G rs746139386 OR4P4 Nonsynonymous SNV T261A 0.002 0 0 3 2 0 0.008 0 1 0 0 0 0.049 83118 chr12 130648246 130648246 G C rs80190592 FZD10 Synonymous SNV P253P 0.026 0.031 0.014 6 31 12 0.015 4 0 0 0 0 6.776 83119 chr7 4169889 4169889 C T rs734116 LOC105375131 0 0 0.014 0 0 0 0 4 0 0 1 0 1.781 83120 chr12 122691045 122691045 T A rs1001178 B3GNT4 Nonsynonymous SNV S58T 0.024 0.018 0.007 5 28 7 0.013 2 1 0 0 0 0.002 83121 chr12 130923012 130923012 G A rs144010117 RIMBP2 Synonymous SNV P501P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.784 83122 chr12 122726978 122726978 G A rs143327360 VPS33A Synonymous SNV G338G 0.023 0.018 0.007 5 27 7 0.013 2 1 0 0 0 11.26 83123 chr12 122763670 122763670 C A rs17881033 CLIP1 Nonsynonymous SNV A1178S 0.004 0.013 0.003 3 5 5 0.008 1 0 0 0 0 Likely benign 11.77 83124 chr7 43190572 43190572 C T rs554805010 MIR3943 0 0 0.003 0 0 0 0 1 0 0 0 0 5.772 83125 chr1 244769086 244769091 CTATGG - rs761237686 CATSPERE M648_A649del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 83126 chr2 80530062 80530062 T C rs76300062 LRRTM1 Nonsynonymous SNV I295V 0.041 0.044 0.027 16 48 17 0.041 8 0 0 0 0 0.001 83127 chr2 80530819 80530819 C A rs186584392 LRRTM1 Synonymous SNV L42L 0.039 0.031 0.02 15 46 12 0.038 6 0 0 0 0 3.296 83128 chr11 77911745 77911745 C T rs147270370 USP35 Nonsynonymous SNV S363L 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 23.7 83129 chr12 132625863 132625863 C A rs200793638 DDX51 Nonsynonymous SNV A403S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.476 83130 chr2 85554433 85554433 C T rs112065068 TGOLN2 Nonsynonymous SNV G141D 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 15.54 83131 chr2 85778981 85778981 G A rs772555989 GGCX Synonymous SNV S464S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 9.123 83132 chr11 5411014 5411014 T C rs185267413 OR51M1 Nonsynonymous SNV M129T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.283 83133 chr11 82880732 82880732 C T rs17513642 PCF11 Nonsynonymous SNV H1250Y 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 23.1 83134 chr11 82935986 82935986 A G rs17515016 ANKRD42 Nonsynonymous SNV N226D 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 25 83135 chr11 85437866 85437866 G T rs78415563 SYTL2 Nonsynonymous SNV D845E 0.008 0.013 0.007 5 9 5 0.013 2 0 0 0 0 0.815 83136 chr11 85584303 85584303 A G rs12362209 CCDC83 Nonsynonymous SNV T49A 0.02 0.023 0.024 10 23 9 0.026 7 0 1 1 1 15.3 83137 chr12 18719972 18719972 T G rs12099555 PIK3C2G Nonsynonymous SNV V1290G 0.01 0.005 0.014 8 12 2 0.021 4 0 0 0 0 7.522 83138 chr12 18876252 18876252 G C rs79487790 PLCZ1 Nonsynonymous SNV I16M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 83139 chr11 8704796 8704796 C T rs746866584 RPL27A Synonymous SNV H17H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 83140 chr11 63996770 63996770 C T rs147009666 NUDT22 Stop gain R178X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 83141 chr11 6424610 6424610 T C rs1800423 APBB1 Nonsynonymous SNV M107V 0.007 0.026 0.027 0 8 10 0 8 0 0 0 0 Likely benign 1.216 83142 chr12 16035712 16035712 G A rs144566765 STRAP Nonsynonymous SNV G24D 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 17.81 83143 chr12 18435498 18435498 A G rs61755374 PIK3C2G Synonymous SNV E161E 0.003 0.005 0.017 2 3 2 0.005 5 0 0 2 0 0.109 83144 chr12 10010105 10010105 C T rs377198013 CLEC2B Nonsynonymous SNV D69N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.716 83145 chr7 74103513 74103513 G A rs146689774 GTF2I Synonymous SNV S17S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 15.89 83146 chr12 23687354 23687354 G A rs61756181 SOX5 Synonymous SNV S311S 0.011 0.005 0.01 5 13 2 0.013 3 0 0 0 0 10.03 83147 chr2 10206077 10206077 C G rs182884229 CYS1 Nonsynonymous SNV A109P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 83148 chr12 27058463 27058463 C A rs137971889 INTS13 Nonsynonymous SNV E696D 0 0.005 0 0 0 2 0 0 0 0 0 0 14.78 83149 chr7 77394922 77394922 C T rs190022683 RSBN1L Synonymous SNV D485D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 83150 chr7 780456 780456 G A rs138915052 DNAAF5 Nonsynonymous SNV V261I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 83151 chr2 17946179 17946179 G A rs201084834 GEN1 Nonsynonymous SNV E122K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 83152 chr2 128631565 128631565 C G rs146751577 AMMECR1L Nonsynonymous SNV A82P 0.005 0.003 0.003 2 6 1 0.005 1 1 0 0 0 Benign 19 83153 chr11 62300795 62300795 C A rs201078275 AHNAK Nonsynonymous SNV G365V 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Uncertain significance 22.5 83154 chr12 48131987 48131987 C T rs200517997 RAPGEF3 Nonsynonymous SNV S815N 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 83155 chr2 131522065 131522065 G A rs115224518 AMER3 Nonsynonymous SNV G807D 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 7.111 83156 chr11 6661676 6661676 A G DCHS1 Nonsynonymous SNV V390A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 83157 chr12 48145714 48145714 G A rs150920877 RAPGEF3 Synonymous SNV S44S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 9.371 83158 chr11 62474759 62474759 C T HNRNPUL2-BSCL2 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.2 83159 chr11 5878524 5878524 G A rs551544283 OR52E8 Nonsynonymous SNV R137W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 83160 chr12 48482722 48482722 A C rs201367781 SENP1 Nonsynonymous SNV F81C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.7 83161 chr12 43826116 43826116 T C rs375660813 ADAMTS20 Synonymous SNV E1029E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.883 83162 chr2 23919274 23919274 G A KLHL29 Nonsynonymous SNV V666I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 83163 chr12 109181920 109181920 C T rs140750900 SSH1 Synonymous SNV P998P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.01 83164 chr12 46318722 46318722 G A rs777676668 SCAF11 Nonsynonymous SNV P1232L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 83165 chr12 10959407 10959407 A G rs772216345 TAS2R8 Nonsynonymous SNV L58S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 83166 chr7 96747192 96747192 T C rs62624461 SDHAF3 Nonsynonymous SNV F53L 0.016 0.023 0.014 4 19 9 0.01 4 1 1 0 0 34 83167 chr2 26203622 26203622 G A rs768230586 KIF3C Nonsynonymous SNV R389C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 83168 chr12 110034320 110034320 G A rs28934897 MVK Nonsynonymous SNV V325I 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 83169 chr2 26350787 26350787 G T rs61754189 RAB10 Synonymous SNV A162A 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 15.72 83170 chr12 110566907 110566907 A G rs34684319 IFT81 Nonsynonymous SNV D134G 0.016 0.016 0.017 5 19 6 0.013 5 0 0 0 0 28.6 83171 chr7 98608720 98608720 C T TRRAP Nonsynonymous SNV R3619C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 83172 chr11 68529068 68529068 G A rs763042338 CPT1A Nonsynonymous SNV R655C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 83173 chr7 99063739 99063739 G C rs117298057 ATP5MF Nonsynonymous SNV A9G 0.003 0 0.017 0 4 0 0 5 0 0 0 0 0.246 83174 chr2 26534271 26534271 T C rs138171124 ADGRF3 Synonymous SNV Q576Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 83175 chr7 99457517 99457517 T C rs45537741 CYP3A43 Synonymous SNV T200T 0.004 0.003 0.017 0 5 1 0 5 0 0 0 0 7.722 83176 chr12 50044598 50044598 G A rs779652912 FMNL3 Nonsynonymous SNV L570F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 83177 chr7 99474564 99474564 G A OR2AE1 Synonymous SNV T31T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.085 83178 chr2 158115126 158115126 G T rs759005432 GALNT5 Stop gain G178X 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 35 83179 chr11 68852730 68852730 T A rs754377919 TPCN2 Nonsynonymous SNV I605N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.6 83180 chr11 60468388 60468388 C G MS4A8 Nonsynonymous SNV P19A 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 16.82 83181 chr2 160599595 160599595 G A rs142434636 MARCHF7 Synonymous SNV A21A 0.018 0.016 0.014 12 21 6 0.031 4 0 0 0 0 14.36 83182 chr8 103820197 103820197 G T GASAL1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.296 83183 chr11 60640864 60640864 G A rs138221670 ZP1 Synonymous SNV S419S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.28 83184 chr8 103876780 103876780 C T rs2247355 AZIN1-AS1 0 0 0.051 0 0 0 0 15 0 0 3 0 4.923 83185 chr8 10388824 10388824 G A rs141545763 PRSS55 Nonsynonymous SNV V123M 0.002 0.005 0.01 2 2 2 0.005 3 0 0 0 0 12.11 83186 chr12 113382383 113382383 G A rs562928911 OAS3 Nonsynonymous SNV R188Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 83187 chr12 51457854 51457854 G A rs11542510 CSRNP2 Nonsynonymous SNV T436M 0.016 0.021 0.024 1 19 8 0.003 7 0 0 0 0 17.93 83188 chr2 27462337 27462337 C A rs138840581 CAD Nonsynonymous SNV Q1735K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Uncertain significance 14.32 83189 chr8 104311002 104311013 CCGCCGCCGCCG - rs539743508 LOC105369147 0 0 0.01 0 0 0 0 3 0 0 1 0 83190 chr11 65346898 65346898 C G rs369857321 EHBP1L1 Synonymous SNV T83T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 11.76 83191 chr8 104897661 104897661 T A rs76903489 RIMS2 Synonymous SNV S86S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 3.549 83192 chr8 10524541 10524541 G C rs916481145 MIR4286 0 0 0.01 0 0 0 0 3 0 0 0 0 0.148 83193 chr2 29287863 29287863 C T rs187333111 PCARE Nonsynonymous SNV G1247S 0.006 0 0.014 2 7 0 0.005 4 0 0 0 0 Benign/Likely benign 0.006 83194 chr12 50745788 50745788 - TG rs776561700 FAM186A Frameshift insertion Q1609Hfs*47 0.006 0.005 0 1 7 2 0.003 0 1 0 0 0 83195 chr12 50745791 50745791 - CTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG FAM186A Frameshift insertion Q1611Lfs*79 0.006 0.005 0 1 7 2 0.003 0 1 0 0 0 83196 chr12 117612564 117612564 C T rs201647242 FBXO21 Nonsynonymous SNV D211N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 83197 chr11 621826 621826 T G rs116176428 CDHR5 Nonsynonymous SNV I131L 0.017 0.008 0.01 12 20 3 0.031 3 0 0 0 0 8.603 83198 chr12 118511660 118511677 TGATCACCTCGGGCTGGG - rs142627542 VSIG10 T349_I354del 0.005 0.018 0.007 1 6 7 0.003 2 0 0 0 0 83199 chr8 110492279 110492279 G A rs10441509 PKHD1L1 Nonsynonymous SNV V3080I 0.007 0.008 0.014 5 8 3 0.013 4 0 0 0 0 21.5 83200 chr8 110504218 110504218 A G rs16879659 PKHD1L1 Nonsynonymous SNV I3411V 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 23.9 83201 chr8 110527429 110527429 C T rs16879693 PKHD1L1 Nonsynonymous SNV L3862F 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 23.2 83202 chr2 32754764 32754764 C T rs150058017 BIRC6 Synonymous SNV L3989L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.9 83203 chr8 110587969 110587969 G A rs113453782 SYBU Synonymous SNV D256D 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 Benign 2.848 83204 chr8 110592151 110592151 A G rs112294178 SYBU Nonsynonymous SNV L74P 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 Benign 20.6 83205 chr12 120575759 120575759 G T rs373416165 GCN1 Synonymous SNV L2113L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 83206 chr8 11405623 11405623 G A rs56185487 BLK Synonymous SNV Q15Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 4.913 83207 chr8 11412895 11412895 C T rs144592409 BLK Nonsynonymous SNV P154L 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.69 83208 chr8 116617042 116617042 G C rs745786131 TRPS1 Nonsynonymous SNV A376G 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 0.004 83209 chr11 73850002 73850002 G C rs72984881 C2CD3 Nonsynonymous SNV H240D 0.008 0.008 0.01 1 9 3 0.003 3 0 0 0 0 23.8 83210 chr2 37513507 37513507 A G PRKD3 Synonymous SNV H241H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.755 83211 chr11 62911210 62911210 C A SLC22A24 Synonymous SNV G14G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.99 83212 chr2 38298394 38298394 C T rs79204362 CYP1B1 Nonsynonymous SNV R368H 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 33 83213 chr11 63320521 63320521 G A rs76877914 PLAAT2 Nonsynonymous SNV T135M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 83214 chr11 74559228 74559228 C T rs77341304 XRRA1 Nonsynonymous SNV V459I 0.017 0.021 0.003 3 20 8 0.008 1 1 0 0 0 2.29 83215 chr11 6644308 6644308 C T rs146233988 DCHS1 Nonsynonymous SNV A2867T 0.014 0.018 0.003 9 16 7 0.023 1 0 0 0 0 15.4 83216 chr8 124382170 124382170 A G rs774600107 ATAD2 Synonymous SNV D274D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.554 83217 chr2 39095403 39095403 C T rs61757604 DHX57 Nonsynonymous SNV G49S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 21.6 83218 chr11 63994510 63994510 C G rs34448455 NUDT22 Nonsynonymous SNV T129R 0.014 0.01 0.01 2 17 4 0.005 3 1 0 0 0 25 83219 chr11 75715121 75715121 G A UVRAG Nonsynonymous SNV C300Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.6 83220 chr11 67079221 67079221 C T rs772369849 SSH3 Nonsynonymous SNV R615W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.8 83221 chr2 43903034 43903034 G A rs80263019 C1GALT1C1L Nonsynonymous SNV P143L 0.016 0.008 0.01 5 19 3 0.013 3 0 0 0 0 9.251 83222 chr2 43927538 43927538 C A rs17031297 PLEKHH2 Nonsynonymous SNV P481T 0.014 0.005 0.014 4 16 2 0.01 4 0 0 0 0 19.47 83223 chr8 128959669 128959669 A G rs12544761 TMEM75 0 0 0.17 0 0 0 0 50 0 0 23 0 0.647 83224 chr2 43927568 43927568 C T rs17031299 PLEKHH2 Synonymous SNV L491L 0.014 0.005 0.014 4 16 2 0.01 4 0 0 0 0 12.9 83225 chr11 76901153 76901153 G A rs111033178 MYO7A Nonsynonymous SNV R1240Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Pathogenic 34 83226 chr11 64525251 64525251 C T rs142234258 PYGM Synonymous SNV Q132Q 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 83227 chr11 76910708 76910708 C T rs41298747 MYO7A Nonsynonymous SNV T1566M 0.014 0.005 0.014 3 17 2 0.008 4 0 0 0 0 Benign/Likely benign 16.53 83228 chr12 54107509 54107509 T C rs144266090 CALCOCO1 Synonymous SNV P504P 0.007 0.016 0.01 1 8 6 0.003 3 0 0 0 0 9.112 83229 chr8 133900572 133900572 T C rs116489694 TG Synonymous SNV P840P 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Benign 0.143 83230 chr8 133953673 133953673 C T rs61744678 TG Nonsynonymous SNV P1707S 0.009 0.005 0.02 5 10 2 0.013 6 0 0 0 0 Benign 0.033 83231 chr12 123830082 123830082 A G SBNO1 Synonymous SNV N91N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.331 83232 chr8 133980214 133980214 A G rs16904799 TG Synonymous SNV K1954K 0.009 0.003 0.02 5 10 1 0.013 6 0 0 0 0 Benign 3.777 83233 chr12 124293413 124293413 G A rs78301653 DNAH10 Synonymous SNV T901T 0.008 0.005 0 7 9 2 0.018 0 0 0 0 0 4.614 83234 chr2 54114565 54114565 T G PSME4 Synonymous SNV P1520P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.627 83235 chr12 53413723 53413723 C T rs773941285 EIF4B Synonymous SNV P130P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.23 83236 chr12 124857047 124857047 G A rs375725543 NCOR2 Synonymous SNV D758D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.874 83237 chr11 65304124 65304124 C T rs56296579 SCYL1 Synonymous SNV A573A 0.009 0.005 0.007 7 11 2 0.018 2 1 0 0 0 Benign 21.4 83238 chr12 56514727 56514727 G A rs764322400 ZC3H10 Synonymous SNV P127P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.455 83239 chr12 54686233 54686233 C G NFE2 Nonsynonymous SNV E349D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.236 83240 chr12 126135437 126135437 A G TMEM132B Nonsynonymous SNV I125V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.003 83241 chr2 187693053 187693053 C T ZSWIM2 Synonymous SNV K520K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.798 83242 chr11 85437499 85437499 T C rs72947495 SYTL2 Nonsynonymous SNV M968V 0.01 0.018 0.003 2 12 7 0.005 1 0 0 0 0 18.61 83243 chr11 64123095 64123095 G A rs61738780 CCDC88B Nonsynonymous SNV R1457Q 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 22.8 83244 chr11 65652995 65652995 C T rs1027566980 FIBP Nonsynonymous SNV A218T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.02 83245 chr2 190719179 190719179 T C rs1145231 PMS1 Nonsynonymous SNV M218T 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Benign 0.143 83246 chr12 132400470 132400470 C T rs139222963 ULK1 Synonymous SNV S548S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 83247 chr2 190719499 190719499 G A rs1145232 PMS1 Nonsynonymous SNV G325R 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Benign 25.9 83248 chr12 132401050 132401050 C T rs61731334 ULK1 Synonymous SNV P662P 0.022 0.018 0.02 9 26 7 0.023 6 0 0 0 0 12.22 83249 chr2 190732559 190732559 T C rs1145234 PMS1 Nonsynonymous SNV Y617H 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Benign 0.133 83250 chr12 132510280 132510280 G A rs148749054 EP400 Nonsynonymous SNV A1649T 0.011 0.013 0.007 4 13 5 0.01 2 0 0 0 0 Likely benign 22.2 83251 chr2 191235610 191235610 A G rs7592352 INPP1 Nonsynonymous SNV T228A 0.052 0.049 0.048 15 61 19 0.038 14 1 1 0 0 12.65 83252 chr11 65811025 65811025 C T GAL3ST3 Synonymous SNV L83L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.85 83253 chr10 100017757 100017758 AA - LOXL4 F362Wfs*15 0.002 0 0.003 0 2 0 0 1 0 0 0 0 83254 chr10 101439498 101439498 A C ENTPD7 Synonymous SNV A138A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.903 83255 chr10 101823396 101823396 C T rs17852464 CPN1 Synonymous SNV G282G 0.006 0.003 0.007 7 7 1 0.018 2 0 0 0 0 14.82 83256 chr10 102256058 102256058 C T rs114072834 SEC31B Nonsynonymous SNV S756N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 83257 chr10 102258922 102258922 T G rs17113157 SEC31B Nonsynonymous SNV S527R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.817 83258 chr10 102265155 102265155 G T rs115131598 SEC31B Nonsynonymous SNV P381H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 83259 chr10 102749069 102749069 G A rs17113613 TWNK Nonsynonymous SNV V368I 0.01 0.005 0.007 3 12 2 0.008 2 0 0 0 0 Benign 14.45 83260 chr10 105183348 105183348 T C rs61751511 PDCD11 Nonsynonymous SNV V899A 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 26.9 83261 chr10 115489254 115489254 C T rs61755279 CASP7 Synonymous SNV P264P 0.014 0.008 0.01 3 17 3 0.008 3 0 0 0 0 11.7 83262 chr10 125426157 125426157 G A rs752514927 GPR26 Synonymous SNV L78L 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 9.263 83263 chr10 128973984 128973984 C T rs142182142 INSYN2A Nonsynonymous SNV G226R 0.002 0 0.007 5 2 0 0.013 2 0 0 0 0 13.33 83264 chr10 134016153 134016153 G A rs138126774 DPYSL4 Nonsynonymous SNV V429M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 83265 chr10 134663917 134663917 C T rs142289266 CFAP46 Nonsynonymous SNV R1928Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 83266 chr10 29822358 29822358 T C rs138539716 SVIL Nonsynonymous SNV E313G 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 25.7 83267 chr10 29833959 29833959 C T rs186844507 MIR604 0 0 0.003 0 0 0 0 1 0 0 0 0 5.857 83268 chr10 45939219 45939219 C T rs758992797 ALOX5 Synonymous SNV Y539Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 83269 chr10 45958981 45958981 C G rs145714792 MARCHF8 Nonsynonymous SNV G236R 0.01 0.01 0.007 3 12 4 0.008 2 0 1 0 0 0.026 83270 chr10 45959762 45959762 G A rs41301623 MARCHF8 Nonsynonymous SNV P56L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.44 83271 chr10 46122195 46122195 A T rs144142701 ZFAND4 Nonsynonymous SNV L359H 0.005 0.003 0.01 4 6 1 0.01 3 0 0 0 0 26.1 83272 chr10 46965864 46965864 G C rs202146218 LOC102724488, SYT15 Nonsynonymous SNV Q109E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 83273 chr10 50678363 50678363 C T rs377041857 ERCC6 Nonsynonymous SNV A1215T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.6 83274 chr10 50944160 50944160 C T rs75372646 OGDHL Nonsynonymous SNV A731T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.3 83275 chr10 5203864 5203864 C T rs11253021 AKR1C8P 0 0 0.207 0 0 0 0 61 0 0 5 0 12.65 83276 chr10 5204928 5204928 C T rs7097295 AKR1C8P 0 0 0.211 0 0 0 0 62 0 0 5 0 20.5 83277 chr10 61414062 61414062 G A rs748452180 SLC16A9 Nonsynonymous SNV T154M 0 0 0.003 3 0 0 0.008 1 0 0 0 0 8.157 83278 chr10 61843365 61843365 C G rs200556767 ANK3 Nonsynonymous SNV G496A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 83279 chr10 72291172 72291172 G A rs61737673 PALD1 Nonsynonymous SNV V199I 0.026 0.018 0.027 3 30 7 0.008 8 0 0 2 0 4.129 83280 chr10 7611678 7611678 C G rs139418789 ITIH5 Nonsynonymous SNV G487A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 25.1 83281 chr10 92656135 92656135 C T rs535330785 RPP30 Nonsynonymous SNV A228V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 83282 chr10 93668140 93668140 T C rs11186740 FGFBP3 Nonsynonymous SNV K196R 0.012 0.016 0.024 2 14 6 0.005 7 0 0 0 0 0.715 83283 chr10 99219865 99219865 C T rs138391730 MMS19 Nonsynonymous SNV R767H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 35 83284 chr11 1016853 1016853 G C MUC6 Nonsynonymous SNV P1983R 0.001 0 0.02 0 1 0 0 6 0 0 0 0 19.94 83285 chr11 1016889 1016889 G A rs373231068 MUC6 Nonsynonymous SNV P1971L 0.009 0.005 0.041 1 11 2 0.003 12 0 0 0 0 20.8 83286 chr11 1016936 1016936 G C rs762964021 MUC6 Synonymous SNV T1955T 0.005 0.003 0.017 1 6 1 0.003 5 0 0 0 0 0.618 83287 chr11 1016944 1016944 G C rs761437962 MUC6 Nonsynonymous SNV H1953D 0.007 0.003 0.017 1 8 1 0.003 5 0 0 0 0 0.901 83288 chr11 1016964 1016964 C T rs750026469 MUC6 Nonsynonymous SNV G1946D 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 13.25 83289 chr11 1017465 1017465 C A rs747532528 MUC6 Nonsynonymous SNV R1779I 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 10.98 83290 chr11 101849120 101849120 G A rs150274963 CEP126 Nonsynonymous SNV R963Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.97 83291 chr11 102995941 102995941 C T rs180861816 DYNC2H1 Nonsynonymous SNV L592F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.6 83292 chr11 103797809 103797809 G A rs960404962 PDGFD Nonsynonymous SNV T273I 0 0 0.003 0 0 0 0 1 0 0 0 0 30 83293 chr11 1078565 1078565 C T rs199809312 MUC2 Nonsynonymous SNV P258L 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 8.806 83294 chr11 10823038 10823038 G A rs7103202 SNORD97 0 0 0.044 0 0 0 0 13 0 0 0 0 8.453 83295 chr11 1093343 1093343 C T rs56002648 MUC2 Nonsynonymous SNV P1721L 0 0 0.014 0 0 0 0 4 0 0 0 0 10.99 83296 chr11 1093354 1093354 T A rs56290335 MUC2 Nonsynonymous SNV S1725T 0 0 0.027 0 0 0 0 8 0 0 0 0 0.005 83297 chr11 113287694 113287694 C T rs1800499 DRD2 Synonymous SNV L141L 0.023 0.016 0.058 14 27 6 0.036 17 0 0 0 0 Benign/Likely benign 13.66 83298 chr11 115375100 115375100 C G rs112835318 CADM1 Nonsynonymous SNV V5L 0.027 0.039 0.068 6 32 15 0.015 20 2 0 1 0 23.8 83299 chr11 120170425 120170425 T C rs369163466 POU2F3 Synonymous SNV P119P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.137 83300 chr11 122888601 122888601 G A LOC341056 0 0 0.003 0 0 0 0 1 0 0 0 0 2.75 83301 chr11 123901012 123901012 G A rs770479798 OR10G8 Nonsynonymous SNV R228H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 83302 chr11 134076563 134076563 G A rs745762178 NCAPD3 Nonsynonymous SNV S316F 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 83303 chr11 134104873 134104873 G T rs763183145 VPS26B Synonymous SNV S102S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.98 83304 chr11 17517205 17517205 C T rs201308481 USH1C Nonsynonymous SNV V856I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.8 83305 chr11 17627548 17627548 G A rs145689709 OTOG Nonsynonymous SNV R1353Q 0.001 0.003 0.017 1 1 1 0.003 5 0 0 0 0 Benign/Likely benign 23.6 83306 chr11 2189146 2189146 C A rs544661832 TH Synonymous SNV V198V 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Likely benign 14.39 83307 chr11 32460162 32460162 A T rs1004146401 WT1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 83308 chr11 46564775 46564775 A G rs138762925 AMBRA1 Synonymous SNV D264D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 83309 chr11 48267471 48267471 G T rs138713871 OR4X2 Synonymous SNV A272A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 83310 chr11 4936464 4936464 T C OR51G2 Nonsynonymous SNV T144A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 83311 chr11 57076524 57076524 C T rs151252290 TNKS1BP1 Nonsynonymous SNV G1221R 0.019 0.01 0.037 8 22 4 0.021 11 1 0 0 0 10.12 83312 chr11 57094228 57094228 A G rs34250794 SSRP1 Synonymous SNV D669D 0.03 0.016 0.017 9 35 6 0.023 5 1 0 0 0 9.8 83313 chr11 57177539 57177539 T C rs148003995 SLC43A3 Synonymous SNV T372T 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 6.888 83314 chr11 58170274 58170274 G A rs143648646 OR5B3 Synonymous SNV F203F 0.003 0.008 0.01 1 3 3 0.003 3 0 0 0 0 1.362 83315 chr11 60620398 60620398 G T PTGDR2 Nonsynonymous SNV S266R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 83316 chr11 620159 620159 C T rs368248004 CDHR5 Nonsynonymous SNV V296M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 83317 chr11 62292707 62292707 T C rs141608992 AHNAK Nonsynonymous SNV D3061G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.064 83318 chr11 62652950 62652950 G T rs116829615 SLC3A2 Nonsynonymous SNV R338M 0.003 0.008 0.01 1 3 3 0.003 3 0 0 0 0 Likely benign 20.8 83319 chr11 63990889 63990889 G A rs150686744 FERMT3 Synonymous SNV T639T 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Benign 12.22 83320 chr11 65267954 65267954 T G rs758152537 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.53 83321 chr11 65273569 65273569 A - rs11367099 MALAT1, TALAM1 0 0 0.197 0 0 0 0 58 0 0 3 0 83322 chr11 69933987 69933987 G A rs530721374 ANO1 Nonsynonymous SNV V80I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.691 83323 chr11 70218321 70218321 A C rs147198550 PPFIA1 Nonsynonymous SNV T956P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 83324 chr11 74705645 74705645 G C NEU3 Synonymous SNV L62L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.872 83325 chr11 76405613 76405613 C T rs12221921 GUCY2EP 0 0 0.116 0 0 0 0 34 0 0 2 0 6.773 83326 chr11 76415209 76415209 G A rs10899257 GUCY2EP 0 0 0.15 0 0 0 0 44 0 0 3 0 8.688 83327 chr11 76423387 76423387 A G rs966774127 GUCY2EP 0 0 0.003 0 0 0 0 1 0 0 0 0 9.469 83328 chr11 7870670 7870670 A G rs61759825 OR5E1P 0 0 0.17 0 0 0 0 50 0 0 4 0 10.56 83329 chr11 7870760 7870760 G A rs17221305 OR5E1P 0 0 0.167 0 0 0 0 49 0 0 4 0 2.564 83330 chr11 93454832 93454833 GT - rs61159915 SCARNA9 0 0 0.031 0 0 0 0 9 0 0 2 0 83331 chr12 100555585 100555585 - GGTACC rs80066811 GOLGA2P5 0 0 0.085 0 0 0 0 25 0 0 0 0 83332 chr12 100555590 100555590 T C rs11610034 GOLGA2P5 0 0 0.044 0 0 0 0 13 0 0 0 0 2.529 83333 chr12 102158471 102158471 T A GNPTAB Nonsynonymous SNV N742Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 83334 chr12 103306594 103306594 A G rs5030841 PAH Nonsynonymous SNV L48S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Pathogenic 27.8 83335 chr12 108145288 108145288 C T PRDM4 Nonsynonymous SNV D344N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 83336 chr12 110206760 110206760 C A rs79456911 FAM222A Synonymous SNV G342G 0.009 0.013 0.041 4 10 5 0.01 12 0 0 1 0 11.57 83337 chr12 11214080 11214080 G A rs777855752 TAS2R46 Nonsynonymous SNV P272S 0.003 0 0.014 0 3 0 0 4 0 0 0 0 17.91 83338 chr12 11214082 11214082 T C rs746887895 TAS2R46 Nonsynonymous SNV Y271C 0.003 0 0.014 0 3 0 0 4 0 0 0 0 12.57 83339 chr12 11214091 11214091 G C rs781493121 TAS2R46 Nonsynonymous SNV A268G 0.003 0 0.02 0 3 0 0 6 0 0 0 0 0.001 83340 chr12 112147443 112147443 A G rs375834504 ACAD10 Synonymous SNV G215G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.7 83341 chr12 112280502 112280502 C T MAPKAPK5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.882 83342 chr12 117014089 117014089 C T rs751152315 MAP1LC3B2 Synonymous SNV A114A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 83343 chr12 121458600 121458600 A C rs755698761 OASL Nonsynonymous SNV F307V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 83344 chr12 121618257 121618257 C G rs10160951 P2RX7 Nonsynonymous SNV P430R 0.004 0.008 0.014 3 5 3 0.008 4 0 0 0 0 21.2 83345 chr12 126137061 126137061 G A rs373773292 TMEM132B Synonymous SNV A170A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.517 83346 chr12 12871775 12871775 C T rs762810555 CDKN1B Synonymous SNV N164N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.45 83347 chr12 129028642 129028642 G A rs759264452 TMEM132C Nonsynonymous SNV R372H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.69 83348 chr12 130521339 130521339 G A rs75764858 LINC02418 0 0 0.027 0 0 0 0 8 0 0 0 0 2.732 83349 chr12 14577252 14577252 G A rs775425772 ATF7IP Nonsynonymous SNV A135T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 83350 chr12 15800074 15800074 G A rs76688635 EPS8 Nonsynonymous SNV R519C 0.01 0 0.017 2 12 0 0.005 5 0 0 0 0 Benign/Likely benign 24.2 83351 chr12 15803904 15803904 A G rs33956726 EPS8 Synonymous SNV Y429Y 0.012 0 0.017 5 14 0 0.013 5 0 0 0 0 Benign 0.006 83352 chr12 1940449 1940449 C T rs527284344 LRTM2 Nonsynonymous SNV S139L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.764 83353 chr12 19593645 19593645 A C AEBP2 Nonsynonymous SNV T3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.827 83354 chr12 20864374 20864374 G A rs146526055 SLCO1C1 Synonymous SNV P35P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 83355 chr12 26383834 26383834 G A rs12313670 SSPN Nonsynonymous SNV S83N 0.032 0.023 0.037 12 38 9 0.031 11 0 0 0 0 23.2 83356 chr12 26383959 26383959 G A rs12313736 SSPN Nonsynonymous SNV V125I 0.032 0.023 0.037 12 38 9 0.031 11 0 0 0 0 17.03 83357 chr12 2797746 2797746 G A rs112414325 CACNA1C Nonsynonymous SNV R1981Q 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign/Likely benign 17.96 83358 chr12 2997440 2997440 A G rs199616976 RHNO1 Nonsynonymous SNV S178G 0.004 0.003 0.024 3 5 1 0.008 7 0 0 0 0 0.027 83359 chr12 313795 313795 G A rs779060532 SLC6A12 Nonsynonymous SNV A95V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 83360 chr12 49444533 49444533 C T rs376753331 KMT2D Synonymous SNV A946A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.41 83361 chr12 51237688 51237688 C A TMPRSS12 Nonsynonymous SNV A84E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 83362 chr12 51773322 51773322 G C GALNT6 Nonsynonymous SNV L82V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 83363 chr12 52283225 52283225 G A rs150583334 ANKRD33 Nonsynonymous SNV R64Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 27.7 83364 chr12 52647543 52647543 G A rs13377619 KRT87P 0 0 0.034 0 0 0 0 10 0 0 0 0 4.179 83365 chr12 52649876 52649876 C A rs12302416 KRT87P 0 0 0.061 0 0 0 0 18 0 0 0 0 17.13 83366 chr12 52756671 52756671 C T rs138197383 KRT85 Synonymous SNV R136R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.06 83367 chr12 52967109 52967109 G A rs531125952 KRT74 Synonymous SNV F151F 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.17 83368 chr12 53186998 53186998 A C rs750818598 KRT3 Nonsynonymous SNV D292E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 18.56 83369 chr12 53439083 53439083 C T LOC283335 0 0 0.003 0 0 0 0 1 0 0 0 0 5.322 83370 chr12 53439347 53439347 A G rs537201748 LOC283335 0 0 0.051 0 0 0 0 15 0 0 1 0 2.826 83371 chr12 53447265 53447265 C G rs187377419 LOC283335 0.01 0.016 0.02 3 12 6 0.008 6 0 0 0 0 8.188 83372 chr12 58019202 58019202 C T rs151077423 SLC26A10 Stop gain R495X 0.003 0.01 0.007 1 3 4 0.003 2 0 0 0 0 38 83373 chr12 6499385 6499385 A G rs147770937 LTBR Synonymous SNV P284P 0.009 0.003 0.017 10 10 1 0.026 5 0 0 0 0 Benign 0.638 83374 chr12 6883771 6883771 C T rs554693777 LAG3 Synonymous SNV S174S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.71 83375 chr12 7044901 7044901 C A rs782053171 ATN1 Synonymous SNV R157R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 83376 chr12 70938383 70938383 T C rs77630153 PTPRB Synonymous SNV P1508P 0.013 0.01 0.017 4 15 4 0.01 5 0 0 0 0 Benign 6.335 83377 chr12 7343109 7343198 GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA - PEX5 E48_S51del 0.003 0 0.003 0 4 0 0 1 0 0 0 0 83378 chr12 9000207 9000207 G A rs767420128 A2ML1 Synonymous SNV Q91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.375 83379 chr12 94976125 94976125 C T rs141857063 TMCC3 Nonsynonymous SNV D59N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 83380 chr12 98849179 98849179 T C rs57350646 SLC9A7P1 0 0 0.078 0 0 0 0 23 0 0 2 0 4.778 83381 chr12 98849803 98849804 AT - rs61677852 SLC9A7P1 0 0 0.078 0 0 0 0 23 0 0 2 0 83382 chr12 98850195 98850195 C T rs829864 SLC9A7P1 0 0 0.293 0 0 0 0 86 0 0 36 0 7.729 83383 chr12 98850692 98850692 G C rs7954559 SLC9A7P1 0 0 0.078 0 0 0 0 23 0 0 2 0 11.41 83384 chr12 98880902 98880902 A - rs36109874 LINC02453 0 0 0.344 0 0 0 0 101 0 0 38 0 83385 chr13 103710685 103710685 G A rs117447044 SLC10A2 Nonsynonymous SNV P142L 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 Uncertain significance 33 83386 chr13 111109670 111109670 - CCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC COL4A2-AS2 Frameshift insertion D134Efs*29 0.02 0.023 0.037 9 23 9 0.023 11 1 1 1 1 83387 chr13 111299513 111299513 G A rs142070578 CARS2 Synonymous SNV D376D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 4.038 83388 chr13 30091775 30091775 G A rs34072234 SLC7A1 Nonsynonymous SNV S482L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 83389 chr13 32752368 32752368 G A rs765492331 FRY Nonsynonymous SNV A826T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 83390 chr13 32798475 32798475 G A rs755098969 FRY Synonymous SNV L1623L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 83391 chr13 32839631 32839631 T C rs74422948 FRY Synonymous SNV D2608D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.969 83392 chr13 42301395 42301395 C T rs41288291 VWA8 Nonsynonymous SNV R898K 0.007 0.008 0.01 1 8 3 0.003 3 0 0 0 0 27.3 83393 chr13 42740691 42740691 A G rs753276954 DGKH Synonymous SNV L88L 0 0 0.01 2 0 0 0.005 3 0 0 0 0 5.532 83394 chr13 42874891 42874891 C T rs113799034 AKAP11 Nonsynonymous SNV T670M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.3 83395 chr13 50589742 50589742 G A rs749546546 KCNRG Nonsynonymous SNV R38K 0 0 0.007 0 0 0 0 2 0 0 0 0 11.43 83396 chr13 51918413 51918413 T C rs143078568 SERPINE3 Synonymous SNV H94H 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 2.076 83397 chr14 100774203 100774203 C T rs72631832 MIR345 0 0 0.014 0 0 0 0 4 0 0 0 0 8.908 83398 chr14 101348000 101348000 A G RTL1 Synonymous SNV N1042N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 83399 chr14 102018917 102018917 T A rs75480446 DIO3OS 0 0 0.054 0 0 0 0 16 0 0 1 0 4.908 83400 chr14 102018946 102018946 A G rs17100344 DIO3OS 0 0 0.119 0 0 0 0 35 0 0 3 0 2.112 83401 chr14 102018963 102018963 G C rs60082567 DIO3OS 0 0 0.116 0 0 0 0 34 0 0 3 0 0.915 83402 chr14 103589193 103589193 T G rs116958646 LINC00677 0 0 0.082 0 0 0 0 24 0 0 4 0 7.789 83403 chr14 105423786 105423786 G A rs1047743202 AHNAK2 Synonymous SNV V58V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.859 83404 chr14 105833623 105833623 C T rs111376436 PACS2 Nonsynonymous SNV A166V 0.03 0.031 0.034 17 35 12 0.044 10 1 0 1 0 11.16 83405 chr14 105945962 105945962 G A rs782767179 CRIP2 Nonsynonymous SNV R79Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 83406 chr14 20897737 20897737 A T rs199726282 KLHL33 Nonsynonymous SNV Y325N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 83407 chr14 23856861 23856861 C T rs34855944 MYH6 Synonymous SNV E1509E 0.002 0.003 0.014 2 2 1 0.005 4 0 0 0 0 Benign/Likely benign 16.54 83408 chr14 23858697 23858697 C G rs34935550 MYH6 Nonsynonymous SNV E1295Q 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 Benign/Likely benign 29.1 83409 chr14 38061867 38061867 A G rs571158363 FOXA1 Nonsynonymous SNV M41T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 83410 chr14 38091455 38091455 C T rs533775542 TTC6 Synonymous SNV P78P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.32 83411 chr14 38368184 38368184 G A rs3809444 LINC00517 0 0 0.388 0 0 0 0 114 0 0 22 0 3.642 83412 chr14 53619005 53619005 C A rs747496321 DDHD1 Nonsynonymous SNV G271V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.6 83413 chr14 60193848 60193848 C G RTN1 Nonsynonymous SNV E518D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.632 83414 chr14 61442816 61442816 A G TRMT5 Nonsynonymous SNV F302S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 83415 chr14 62233622 62233622 A G SNAPC1 Nonsynonymous SNV M53V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 83416 chr14 64921541 64921541 G A rs760130182 MTHFD1 Nonsynonymous SNV R889H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 83417 chr14 67664881 67664883 GAA - rs113466193 FAM71D K3del 0.01 0.016 0.017 4 12 6 0.01 5 1 0 0 0 83418 chr14 68117496 68117496 G A rs45584632 ARG2 Synonymous SNV A308A 0.007 0.018 0.014 6 8 7 0.015 4 0 0 0 0 Benign 14.45 83419 chr14 73718514 73718514 G A rs146906766 PAPLN Synonymous SNV R271R 0.02 0.036 0.024 3 24 14 0.008 7 0 0 0 0 10.2 83420 chr14 74186042 74186042 G C ELMSAN1 Nonsynonymous SNV Q1034E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 83421 chr14 76964631 76964631 G C ESRRB Nonsynonymous SNV E378Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 83422 chr14 89151392 89151392 C A rs17204164 EML5 Synonymous SNV V983V 0.037 0.047 0.061 13 43 18 0.033 18 0 0 1 0 14.75 83423 chr14 91700411 91700411 G A rs552854448 GPR68 Synonymous SNV S328S 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 4.056 83424 chr14 91774732 91774732 G A rs201174781 CCDC88C Nonsynonymous SNV A990V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.353 83425 chr14 93398779 93398779 C T rs190999870 CHGA Synonymous SNV P140P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 83426 chr14 93813619 93813619 C G rs201659311 COX8C Nonsynonymous SNV P2R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 83427 chr14 93813726 93813726 C T rs114399408 COX8C Nonsynonymous SNV P38S 0.006 0.016 0.007 7 7 6 0.018 2 0 0 0 0 15.92 83428 chr14 94909110 94909110 C T rs367819510 SERPINA11 Nonsynonymous SNV G368R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 83429 chr14 95056407 95056407 G C rs6114 SERPINA5 Nonsynonymous SNV G217R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.241 83430 chr14 95058477 95058477 G A rs6117 SERPINA5 Synonymous SNV S374S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 7.443 83431 chr14 95081381 95081381 G A rs9323909 SERPINA3 Synonymous SNV S201S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.821 83432 chr14 95111391 95111391 C A rs8022262 SERPINA13P 0 0 0.014 0 0 0 0 4 0 0 0 0 5.623 83433 chr14 97410013 97410013 T C rs17094651 LINC00618 0 0 0.044 0 0 0 0 13 0 0 1 0 1.186 83434 chr15 101094476 101094476 G A rs57978975 PRKXP1 0 0 0.163 0 0 0 0 48 0 0 3 0 5.052 83435 chr15 101098950 101098950 G C LOC102723335, PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.154 83436 chr15 101099224 101099224 G A rs989669343 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.173 83437 chr15 101099322 101099322 C T rs2270999 PRKXP1 0 0 0.146 0 0 0 0 43 0 0 3 0 0.733 83438 chr15 101606190 101606190 C T rs41525944 LRRK1 Nonsynonymous SNV R1850C 0.01 0.003 0.017 3 12 1 0.008 5 0 0 0 0 Benign 10.52 83439 chr15 102346082 102346082 C T rs141580524 OR4F6 Nonsynonymous SNV R54C 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 19.22 83440 chr15 21937419 21937419 A T rs7179663 LOC646214 0 0 0.163 0 0 0 0 48 0 0 0 0 0.209 83441 chr15 21937819 21937819 G C rs4984133 LOC646214 0 0 0.228 0 0 0 0 67 0 0 0 0 2.692 83442 chr15 25319287 25319287 - T rs758395292 SNORD116-10 0 0 0.02 0 0 0 0 6 0 0 0 0 83443 chr15 25423956 25423956 C T rs34859712 SNORD115-10, SNORD115-12, SNORD115-5, SNORD115-9 0 0 0.088 0 0 0 0 26 0 0 2 0 0.984 83444 chr15 34646755 34646755 C T rs149533722 NUTM1 Nonsynonymous SNV A385V 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 25.7 83445 chr15 40544943 40544943 A G rs369720850 C15orf56 Synonymous SNV V49V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 4.649 83446 chr15 41046916 41046916 G A RMDN3 Synonymous SNV A22A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 83447 chr15 41797721 41797721 G T rs148513655 LTK Nonsynonymous SNV R439S 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 Benign 14.24 83448 chr15 42143118 42143118 T C rs78489122 SPTBN5 Nonsynonymous SNV I3619V 0.02 0.039 0.017 8 23 15 0.021 5 0 1 0 0 0.005 83449 chr15 42379900 42379900 T - rs561132236 PLA2G4D 0.014 0.008 0.014 11 16 3 0.028 4 0 0 0 0 83450 chr15 52506872 52506872 A G rs201005186 MYO5C Synonymous SNV L1324L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 83451 chr15 58728878 58728878 C T rs150839936 LIPC-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 6.883 83452 chr15 58982849 58982849 A C rs2052804 HSP90AB4P 0 0 0.082 0 0 0 0 24 0 0 3 0 0.111 83453 chr15 58984394 58984394 G C rs12437998 HSP90AB4P 0 0 0.075 0 0 0 0 22 0 0 2 0 5.315 83454 chr15 58984407 58984407 C T rs12437955 HSP90AB4P 0 0 0.095 0 0 0 0 28 0 0 3 0 1.149 83455 chr15 59934414 59934414 T C rs1802673 GTF2A2 Synonymous SNV V75V 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 6.273 83456 chr15 63340569 63340569 C T rs62013182 TPM1-AS 0 0 0.014 0 0 0 0 4 0 0 0 0 Likely benign 8.328 83457 chr15 63341238 63341238 G C rs66793829 TPM1-AS 0 0 0.228 0 0 0 0 67 0 0 9 0 Benign 10.23 83458 chr15 65451057 65451057 C T rs117517219 CLPX Nonsynonymous SNV G250S 0.007 0.013 0.01 0 8 5 0 3 0 0 0 0 23.6 83459 chr15 65877174 65877174 C T rs75178492 INTS14 Synonymous SNV L312L 0.037 0.047 0.037 12 44 18 0.031 11 0 1 0 0 16.07 83460 chr15 67813822 67813822 T A rs141942981 C15orf61 Nonsynonymous SNV V79D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 83461 chr15 69857662 69857662 C A rs16953466 DRAIC 0 0 0.068 0 0 0 0 20 0 0 1 0 4.646 83462 chr15 69857758 69857758 C T rs16953472 DRAIC 0 0 0.017 0 0 0 0 5 0 0 0 0 5.061 83463 chr15 72180440 72180440 C T rs148060237 MYO9A Synonymous SNV S1720S 0.016 0.021 0.024 7 19 8 0.018 7 1 0 0 0 17.88 83464 chr15 72192205 72192205 C G rs141948847 MYO9A Nonsynonymous SNV R1098P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 83465 chr15 72495459 72495459 T G PKM Nonsynonymous SNV H409P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 83466 chr15 73076597 73076597 T G rs77362358 ADPGK-AS1 0 0 0.037 0 0 0 0 11 0 0 1 0 8.256 83467 chr15 77425611 77425611 C A rs201213328 PEAK1 Synonymous SNV P1271P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 83468 chr15 89169954 89169954 G C rs61752779 AEN Nonsynonymous SNV V172L 0.014 0.008 0.014 3 16 3 0.008 4 0 0 0 0 16.19 83469 chr15 90334246 90334246 G A rs143655390 ANPEP Synonymous SNV N869N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.487 83470 chr15 95399115 95399115 G A rs28639753 LOC440311 0 0 0.078 0 0 0 0 23 0 0 1 0 12.17 83471 chr16 10989612 10989612 G A rs149253747 CIITA Nonsynonymous SNV A96T 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Uncertain significance 24.3 83472 chr16 1129225 1129225 C T rs2076419 SSTR5 Synonymous SNV D119D 0.009 0.016 0.017 5 11 6 0.013 5 0 0 0 0 5.803 83473 chr16 1129584 1129584 G A rs769269974 SSTR5 Nonsynonymous SNV R239Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 83474 chr16 12223613 12223613 C G rs201093247 SNX29 Synonymous SNV A531A 0.009 0.018 0.007 4 10 7 0.01 2 0 0 0 0 11.07 83475 chr16 15813088 15813088 G A rs199564260 MYH11 Synonymous SNV S1720S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.11 83476 chr16 1706962 1706962 A G CRAMP1 Nonsynonymous SNV K735R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.798 83477 chr16 19693593 19693593 A T rs147028064 VPS35L Nonsynonymous SNV N710I 0 0 0.007 0 0 0 0 2 0 0 0 0 28.5 83478 chr16 20043735 20043735 G A rs775925795 GPR139 Synonymous SNV I128I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 83479 chr16 20952791 20952791 C T DNAH3 Synonymous SNV K3816K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 83480 chr16 21031053 21031053 C T rs151258803 DNAH3 Nonsynonymous SNV R1926K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.1 83481 chr16 2345696 2345696 G A rs143929832 ABCA3 Nonsynonymous SNV P770L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.91 83482 chr16 24104188 24104188 C T rs3729896 PRKCB Synonymous SNV P202P 0.032 0.042 0.034 21 37 16 0.054 10 0 0 0 0 19.08 83483 chr16 24831617 24831617 G A rs773251138 TNRC6A Synonymous SNV T1697T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 83484 chr16 2849358 2849358 G C PRSS41 Nonsynonymous SNV R139P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.987 83485 chr16 30715462 30715462 C T rs149628651 SRCAP Synonymous SNV G44G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.3 83486 chr16 31475864 31475864 C T rs142376949 ARMC5 Nonsynonymous SNV P507L 0.007 0.01 0.017 2 8 4 0.005 5 0 0 0 0 7.714 83487 chr16 31717354 31717354 T C rs1406178 CLUHP3 0 0 0.184 0 0 0 0 54 0 0 26 0 5.195 83488 chr16 46771892 46771892 T A rs56084385 MYLK3 Synonymous SNV T244T 0.011 0.008 0.017 4 13 3 0.01 5 0 0 0 0 Benign 0.262 83489 chr16 49430501 49430501 C T rs140378939 C16orf78 Nonsynonymous SNV R188C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 34 83490 chr16 49669726 49669726 C T rs147898137 ZNF423 Nonsynonymous SNV A996T 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 Benign/Likely benign 7.551 83491 chr16 50341036 50341036 G C rs145933417 ADCY7 Nonsynonymous SNV V610L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 83492 chr16 54279662 54279662 C T rs16953253 LINC02169 0 0 0.112 0 0 0 0 33 0 0 2 0 0.744 83493 chr16 57012127 57012127 G A rs144949752 CETP Nonsynonymous SNV R309H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.473 83494 chr16 57485070 57485070 G A COQ9 Synonymous SNV E64E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.1 83495 chr16 57689385 57689385 C T rs1801257 ADGRG1 Synonymous SNV S286S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.51 83496 chr16 58075613 58075613 C T rs200591280 MMP15 Nonsynonymous SNV P335S 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 22.2 83497 chr16 67039259 67039259 C T rs200048468 CES4A Synonymous SNV F328F 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 10.9 83498 chr16 675985 675985 G A rs149195145 RAB40C Synonymous SNV A143A 0.009 0.008 0.024 6 10 3 0.015 7 1 0 0 0 Benign 7.275 83499 chr16 67866443 67866443 C T rs200885136 CENPT Nonsynonymous SNV R39Q 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 4.716 83500 chr16 67961375 67961375 C T rs199995143 PSKH1 Nonsynonymous SNV R369C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 83501 chr16 70512349 70512349 G A rs17886060 FCSK Nonsynonymous SNV R939Q 0.003 0 0.014 4 4 0 0.01 4 0 0 0 0 35 83502 chr16 707839 707839 G T rs778503481 WDR90 Nonsynonymous SNV V851L 0 0 0.003 0 0 0 0 1 0 0 0 0 21 83503 chr16 71570847 71570847 G A rs148657245 CHST4 Nonsynonymous SNV M89I 0.011 0.008 0.007 4 13 3 0.01 2 0 0 0 0 0.003 83504 chr16 72992275 72992275 G A rs12930835 ZFHX3 Synonymous SNV F590F 0.009 0.003 0.01 0 11 1 0 3 0 0 0 0 Likely benign 6.387 83505 chr16 75147500 75147500 C T rs201963954 LDHD Nonsynonymous SNV R363H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 83506 chr16 84225184 84225184 C T rs79224535 ADAD2 Synonymous SNV A116A 0.009 0.018 0.01 3 11 7 0.008 3 0 0 0 0 12.06 83507 chr16 84227713 84227713 C T rs78344060 ADAD2 Nonsynonymous SNV R174C 0.009 0.018 0.02 3 10 7 0.008 6 0 0 0 0 11.43 83508 chr16 84493953 84493953 - GG rs35446600 ATP2C2-AS1 0 0 0.031 0 0 0 0 9 0 0 0 0 83509 chr16 84773970 84773970 C T USP10 Nonsynonymous SNV P49L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.579 83510 chr16 85689367 85689367 C T rs201346187 GSE1 Nonsynonymous SNV S174F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 83511 chr16 86589166 86589166 T C rs116869463 FLJ30679 0 0 0.058 0 0 0 0 17 0 0 1 0 3.979 83512 chr16 88874555 88874555 G A rs548414653 CDT1 Nonsynonymous SNV E504K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 83513 chr16 89167282 89167282 C T rs774117419 ACSF3 Nonsynonymous SNV R65C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.781 83514 chr16 89346756 89346756 A G rs368831797 ANKRD11 Nonsynonymous SNV F2065S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 83515 chr16 89775352 89775352 C T rs374177055 VPS9D1 Nonsynonymous SNV R537Q 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 32 83516 chr16 89784317 89784349 TCCCACGTCCAGTGGCTCCCCCGACCTCTGTGC - rs879867774 VPS9D1-AS1 0 0 0.122 0 0 0 0 36 0 0 11 0 83517 chr16 89940242 89940242 T G rs373492730 TCF25 Nonsynonymous SNV V56G 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 15.21 83518 chr16 89985950 89985950 C T rs34158934 MC1R Nonsynonymous SNV T95M 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 83519 chr16 90024048 90024048 C T rs200998494 DEF8 Synonymous SNV L58L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 15.16 83520 chr16 90096003 90096003 C G rs12926012 GAS8-AS1 0 0 0.129 0 0 0 0 38 0 0 10 0 3.359 83521 chr16 90110284 90110284 G A rs3743821 URAHP 0 0 0.075 0 0 0 0 22 0 0 1 0 4.141 83522 chr17 13504294 13504294 G T rs201141071 HS3ST3A1 Synonymous SNV G51G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 8.926 83523 chr17 13504295 13504295 C T rs200614314 HS3ST3A1 Nonsynonymous SNV G51D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 24.2 83524 chr17 15554727 15554727 C T rs141481228 TRIM16 Nonsynonymous SNV G66E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 83525 chr17 21438645 21438645 G A rs564760522 LINC02693 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.947 83526 chr17 28380985 28380985 A G rs200049056 EFCAB5 Synonymous SNV S615S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.055 83527 chr17 3181284 3181284 C A rs61729398 OR3A2 Nonsynonymous SNV G316W 0.013 0.021 0.027 4 15 8 0.01 8 0 0 0 0 24.3 83528 chr17 3213545 3213545 G C rs8071097 OR3A4P 0 0 0.146 0 0 0 0 43 0 0 7 0 3.866 83529 chr17 3213728 3213728 A G rs9905684 OR3A4P 0 0 0.146 0 0 0 0 43 0 0 7 0 0.177 83530 chr17 3213862 3213862 C G rs9905086 OR3A4P 0 0 0.146 0 0 0 0 43 0 0 7 0 0.195 83531 chr17 3213911 3213911 G C rs9903671 OR3A4P 0 0 0.146 0 0 0 0 43 0 0 7 0 11.47 83532 chr17 3213962 3213962 A G rs9906179 OR3A4P 0 0 0.146 0 0 0 0 43 0 0 7 0 1.476 83533 chr17 3214106 3214106 C A rs9911226 OR3A4P 0 0 0.143 0 0 0 0 42 0 0 6 0 2.044 83534 chr17 3214128 3214128 A G rs9912090 OR3A4P 0 0 0.146 0 0 0 0 43 0 0 6 0 9.527 83535 chr17 33586144 33586144 G A rs143657402 SLFN5 Synonymous SNV T145T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.567 83536 chr17 36623183 36623183 G A rs199766741 ARHGAP23 Nonsynonymous SNV R420Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 28.3 83537 chr17 39974441 39974441 G A rs529337443 FKBP10 Synonymous SNV P164P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 13.36 83538 chr17 41338439 41338439 C A rs184295724 NBR1 Nonsynonymous SNV T106N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.88 83539 chr17 42155883 42155883 C T rs199545461 HDAC5 Nonsynonymous SNV R1106Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.28 83540 chr17 4391143 4391143 G A SPNS3 Nonsynonymous SNV R371K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.346 83541 chr17 44073866 44073866 A C MAPT Nonsynonymous SNV T162P 0 0 0.01 0 0 0 0 3 0 0 0 0 Uncertain significance 19.69 83542 chr17 47579523 47579523 G A rs763775493 NGFR Synonymous SNV Q55Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 83543 chr17 47788743 47788743 G A FAM117A Synonymous SNV A412A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.127 83544 chr17 4872801 4872801 T G CAMTA2 Synonymous SNV A1091A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.799 83545 chr17 48753019 48753019 G T rs35458882 ABCC3 Synonymous SNV G914G 0 0 0.014 0 0 0 0 4 0 0 0 0 0.537 83546 chr17 56276508 56276508 A G rs769206915 EPX Nonsynonymous SNV N410D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 83547 chr17 56429673 56429673 A - rs66475354 TSPOAP1-AS1 0 0 0.099 0 0 0 0 29 0 0 2 0 83548 chr17 56429675 56429675 C G rs62082090 TSPOAP1-AS1 0 0 0.099 0 0 0 0 29 0 0 2 0 8.689 83549 chr17 7097021 7097021 G A rs756531801 DLG4 Nonsynonymous SNV S459L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 83550 chr17 7220663 7220663 G C rs374832287 NEURL4 Nonsynonymous SNV P1447A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.526 83551 chr17 72745070 72745070 C A rs765897805 SLC9A3R1 Nonsynonymous SNV H29N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.1 83552 chr17 72791739 72791739 C G rs150038829 TMEM104 Nonsynonymous SNV L202V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 12.38 83553 chr17 74392639 74392665 GGCAGCCATGGCCACAGCCCCCTGGAC - UBE2O V785_A793del 0 0 0.003 0 0 0 0 1 0 0 0 0 83554 chr17 76201182 76201182 A G rs61742958 AFMID Nonsynonymous SNV Y159C 0 0 0.01 0 0 0 0 3 0 0 0 0 24.3 83555 chr17 76267779 76267779 A C rs872358 LINC01993 0 0 0.095 0 0 0 0 28 0 0 0 0 3.247 83556 chr17 76496405 76496405 G A rs371422110 DNAH17 Synonymous SNV S1874S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 83557 chr17 7674757 7674757 A G rs775279092 DNAH2 Nonsynonymous SNV N1491S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 83558 chr17 77757671 77757671 G A rs150943047 CBX2 Synonymous SNV P143P 0.003 0.005 0.007 6 3 2 0.015 2 0 0 0 0 Benign 8.665 83559 chr17 78327709 78327709 G A rs34269699 RNF213-AS1 0 0 0.092 0 0 0 0 27 0 0 2 0 4.556 83560 chr17 79004893 79004893 G A rs11548824 BAIAP2-DT 0 0 0.18 0 0 0 0 53 0 0 9 0 4.796 83561 chr17 79514675 79514675 T C rs149253459 FAAP100 Nonsynonymous SNV Q478R 0.003 0 0.017 0 3 0 0 5 0 0 0 0 25.8 83562 chr17 79662986 79662986 C T rs201444554 HGS Synonymous SNV H450H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 83563 chr17 79804869 79804869 C T rs866897203 P4HB Nonsynonymous SNV G270D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.434 83564 chr17 80045881 80045881 C T rs142371324 FASN Nonsynonymous SNV E939K 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Benign 12.31 83565 chr17 80622395 80622395 C T RAB40B Synonymous SNV G60G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 83566 chr17 80674717 80674717 G A rs138953335 FN3KRP Nonsynonymous SNV R29Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 83567 chr18 18550434 18550434 C T ROCK1 Nonsynonymous SNV A899T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 83568 chr18 18622539 18622539 G A rs56085230 ROCK1 Synonymous SNV Y269Y 0.014 0.01 0.01 7 17 4 0.018 3 0 0 0 0 6.912 83569 chr18 24441215 24441215 C T rs1839318 AQP4 Synonymous SNV L142L 0.031 0.042 0.02 12 36 16 0.031 6 0 0 0 1 8.738 83570 chr18 24442227 24442227 C T rs72557968 AQP4 Synonymous SNV Q100Q 0.031 0.042 0.02 12 36 16 0.031 6 0 0 0 1 10.69 83571 chr18 32887540 32887540 C T rs62096521 ZNF271P 0 0 0.041 0 0 0 0 12 0 0 0 0 2.884 83572 chr18 32887914 32887914 A G rs1131709 ZNF271P 0 0 0.435 0 0 0 0 128 0 0 42 0 11.49 83573 chr18 3596818 3596818 T A rs76573302 DLGAP1-AS1 0 0 0.126 0 0 0 0 37 0 0 2 0 7.457 83574 chr18 3597155 3597158 TCTG - rs35111168 DLGAP1-AS1 0 0 0.129 0 0 0 0 38 0 0 2 0 83575 chr18 47809070 47809070 C T rs141174485 CXXC1 Nonsynonymous SNV V626M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 83576 chr18 56702945 56702945 A C rs17695181 OACYLP 0 0 0.245 0 0 0 0 72 0 0 9 0 16.2 83577 chr18 59942691 59942691 T C rs9948159 RELCH Synonymous SNV A984A 0 0.005 0.01 0 0 2 0 3 0 0 0 0 9.531 83578 chr18 61460395 61460395 T C rs372450614 SERPINB7 Nonsynonymous SNV S57P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.367 83579 chr18 67231825 67231825 C T DOK6 Nonsynonymous SNV H57Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 83580 chr18 68297896 68297896 A G rs73465238 GTSCR1 0.017 0.01 0.01 5 20 4 0.013 3 0 0 0 0 0.014 83581 chr18 68317984 68317984 C T rs3109044 GTSCR1 0.02 0.016 0.014 7 23 6 0.018 4 0 0 1 0 1.644 83582 chr19 10132318 10132318 T C rs45503592 RDH8 Nonsynonymous SNV Y277H 0.009 0.008 0.02 8 11 3 0.021 6 0 0 0 0 19.56 83583 chr19 10221818 10221818 C T rs780194176 PPAN Nonsynonymous SNV R414C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.153 83584 chr19 10799972 10799972 A G rs756833600 ILF3 Nonsynonymous SNV N890S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.21 83585 chr19 12157507 12157507 G C rs11668160 ZNF878 Synonymous SNV S24S 0.014 0.008 0.02 8 16 3 0.021 6 0 0 0 0 5.738 83586 chr19 12243276 12243276 C T rs76936724 ZNF625-ZNF20 0.011 0.005 0.014 8 13 2 0.021 4 0 0 0 0 1.145 83587 chr19 1250353 1250353 T G rs202070687 MIDN Nonsynonymous SNV C20G 0.009 0.018 0.031 6 11 7 0.015 9 1 0 0 0 14.22 83588 chr19 14863235 14863235 T C rs765585011 ADGRE2 Nonsynonymous SNV Q507R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 83589 chr19 16146491 16146491 G A rs140124762 LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 5.378 83590 chr19 16687387 16687387 G C rs201560710 MED26 Synonymous SNV V418V 0 0 0.014 0 0 0 0 4 0 0 0 0 1.168 83591 chr19 17922666 17922666 G A rs77134098 B3GNT3 Nonsynonymous SNV R285H 0.014 0.018 0.031 4 16 7 0.01 9 0 0 0 0 18.48 83592 chr19 18375735 18375735 G A rs375296011 IQCN Nonsynonymous SNV T872M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.601 83593 chr19 18652656 18652658 TCC - rs778744089 FKBP8 E46del 0 0 0.003 0 0 0 0 1 0 0 0 0 83594 chr19 1953495 1953495 G A rs62129472 CSNK1G2-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 0.01 83595 chr19 19868755 19868755 C G rs152338 LINC00663 0 0 0.139 0 0 0 0 41 0 0 15 0 3.015 83596 chr19 35434239 35434239 G A rs185514684 ZNF30 Synonymous SNV Q124Q 0.013 0.008 0.007 3 15 3 0.008 2 0 0 0 0 0.57 83597 chr19 35448956 35448956 T C rs112637482 ZNF792 Synonymous SNV T601T 0.013 0.008 0.007 3 15 3 0.008 2 0 0 0 0 0.016 83598 chr19 35899432 35899434 AGA - rs199720078 LINC01531 0 0 0.02 0 0 0 0 6 0 0 0 0 83599 chr19 36049278 36049278 T G rs150040599 ATP4A Nonsynonymous SNV T496P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 31 83600 chr19 36497380 36497380 A C rs778349561 SYNE4 Nonsynonymous SNV V158G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 83601 chr19 37211557 37211557 T C rs140175549 ZNF567 Nonsynonymous SNV I613T 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 15.48 83602 chr19 38810904 38810904 C T rs201520164 KCNK6 Nonsynonymous SNV T105I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 32 83603 chr19 38954139 38954139 G A rs370634440 RYR1 Nonsynonymous SNV R885H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28 83604 chr19 38976655 38976655 C T rs34934920 RYR1 Nonsynonymous SNV P1787L 0.038 0.023 0.031 6 45 9 0.015 9 0 0 0 0 Benign/Likely benign 22.7 83605 chr19 39996064 39996064 C T rs146274789 DLL3 Nonsynonymous SNV R356W 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 35 83606 chr19 41306650 41306650 C T rs61750953 EGLN2 Nonsynonymous SNV S58L 0.027 0.01 0.024 3 32 4 0.008 7 0 0 0 0 25.9 83607 chr19 418948 418948 C T rs61749990 SHC2 Nonsynonymous SNV V577M 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 21.2 83608 chr19 42260844 42260844 C T rs782398702 CEACAM6 Nonsynonymous SNV A134V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 83609 chr19 42566772 42566772 G T rs201744922 GRIK5 Nonsynonymous SNV P126T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 83610 chr19 4433407 4433407 C G CHAF1A Synonymous SNV A848A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.704 83611 chr19 44680996 44680996 A G rs10413887 ZNF226 Synonymous SNV G527G 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 7.057 83612 chr19 44932614 44932614 G A rs185969631 ZNF229 Nonsynonymous SNV S775F 0.004 0.003 0.003 8 5 1 0.021 1 0 0 0 1 25.4 83613 chr19 45911725 45911725 C T rs762272937 CD3EAP Nonsynonymous SNV P169S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 83614 chr19 46357680 46357680 G A rs371180833 SYMPK Nonsynonymous SNV P25L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 83615 chr19 46733419 46733419 G A IGFL1 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 83616 chr19 49206451 49206451 G A rs143120145 FUT2 Nonsynonymous SNV A80T 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 25.9 83617 chr19 49206548 49206548 C T rs200157007 FUT2 Nonsynonymous SNV P112L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 83618 chr19 49310265 49310265 T C BCAT2 Nonsynonymous SNV S31G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 83619 chr19 49703950 49703950 C T rs751311653 TRPM4 Nonsynonymous SNV P600L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 83620 chr19 49841203 49841203 G A rs377403465 CD37 Nonsynonymous SNV V54I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 83621 chr19 52004878 52004878 C T rs148809065 SIGLEC12 Nonsynonymous SNV G37D 0.032 0.01 0.02 7 37 4 0.018 6 0 0 0 0 25.8 83622 chr19 53344954 53344954 T G rs139909919 ZNF468 Nonsynonymous SNV H198P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 83623 chr19 54261549 54261549 C G rs71363366 MIR1283-2 0 0 0.014 0 0 0 0 4 0 0 0 0 0.031 83624 chr19 54579498 54579501 CTTT - rs587744412 TARM1 R12Kfs*41 0 0.003 0.007 0 0 1 0 2 0 0 0 0 83625 chr19 54973386 54973386 G A rs61747214 LENG9 Synonymous SNV L464L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.556 83626 chr19 55831987 55831987 T C TMEM150B 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 83627 chr19 56028918 56028918 C T rs77278103 SSC5D Nonsynonymous SNV P1092L 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 24.3 83628 chr19 57059235 57059235 A T rs146591427 ZFP28 Nonsynonymous SNV T163S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.407 83629 chr19 57839291 57839291 G A rs202039911 ZNF543 Nonsynonymous SNV R154H 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 0.013 83630 chr19 57987107 57987109 CTC - rs758362315 ZNF772 E40del 0 0.003 0.007 0 0 1 0 2 0 0 0 0 83631 chr19 58118180 58118180 C T rs143833020 ZNF530 Synonymous SNV H429H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 6.988 83632 chr19 6307261 6307261 C T rs147699720 ACER1 Nonsynonymous SNV V177M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 83633 chr19 6375505 6375505 G A rs199881560 PSPN Nonsynonymous SNV R91C 0.004 0 0.01 0 5 0 0 3 0 0 0 0 34 83634 chr19 651684 651684 C T rs61754469 RNF126 Nonsynonymous SNV A124T 0.003 0.003 0.01 5 4 1 0.013 3 0 0 0 0 23.4 83635 chr19 7006046 7006046 G A rs540627258 FLJ25758 0 0 0.003 0 0 0 0 1 0 0 0 0 2.91 83636 chr19 846350 846350 C A PRTN3 Synonymous SNV V191V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 83637 chr19 886145 886145 G C rs201518892 MED16 Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.208 83638 chr1 110151395 110151395 G T rs3738766 GNAT2 Nonsynonymous SNV L107I 0.02 0.021 0.034 13 24 8 0.033 10 2 0 0 0 Benign/Likely benign 22.8 83639 chr1 110260004 110260004 C T rs181150599 GSTM5 Stop gain R205X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 35 83640 chr1 1118412 1118412 C T rs569439420 TTLL10 Nonsynonymous SNV A285V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 83641 chr1 113658913 113658913 G A rs41312692 LRIG2 Synonymous SNV E845E 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 12.28 83642 chr1 115400087 115400087 A G rs146221635 SYCP1 Nonsynonymous SNV Y87C 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Likely benign 25.3 83643 chr1 11562143 11562143 G A rs768166185 DISP3 Nonsynonymous SNV R365Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 83644 chr1 145415740 145415740 G T HJV Nonsynonymous SNV V74F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 83645 chr1 151109517 151109517 G A rs148770722 SEMA6C Nonsynonymous SNV R224C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 83646 chr1 151991140 151991140 G C rs1979637 NBPF18P 0 0 0.17 0 0 0 0 50 0 0 9 0 0.99 83647 chr1 152275727 152275727 G A rs546871592 FLG Stop gain R3879X 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 37 83648 chr1 152329370 152329370 A G rs145678751 FLG2 Nonsynonymous SNV C298R 0.014 0.018 0.003 9 17 7 0.023 1 0 0 0 0 14.71 83649 chr1 15623268 15623268 G A rs200196291 FHAD1 Synonymous SNV E219E 0.002 0 0.01 0 2 0 0 3 0 0 0 0 7.606 83650 chr1 15653872 15653872 G A rs10127456 LOC101927417 0 0 0.224 0 0 0 0 66 0 0 11 0 6.66 83651 chr1 158227471 158227471 T C rs769928363 CD1A Synonymous SNV C314C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 83652 chr1 158576973 158576973 A G rs41273513 OR10Z1 Nonsynonymous SNV I249V 0.02 0.013 0.031 10 23 5 0.026 9 0 0 0 0 2.688 83653 chr1 158724634 158724634 A G rs75906759 OR6K6 Nonsynonymous SNV H10R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 83654 chr1 160650919 160650919 C - rs142100077 CD48 G242Vfs*57 0.027 0.021 0.017 8 32 8 0.021 5 0 1 0 0 83655 chr1 162343861 162343861 C T rs142892903 SPATA46 Nonsynonymous SNV G255S 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 6.116 83656 chr1 167889867 167889867 C T MPC2 Synonymous SNV G51G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.919 83657 chr1 169699664 169699664 G A rs746383296 SELE Synonymous SNV I208I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.326 83658 chr1 170961422 170961422 G A rs369203487 MROH9 Synonymous SNV T382T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 83659 chr1 175937551 175937551 G C rs764560958 MIR1843, SCARNA3 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 83660 chr1 178408589 178408589 G C RASAL2 Nonsynonymous SNV R88P 0 0 0.003 0 0 0 0 1 0 0 0 0 33 83661 chr1 182369080 182369080 G C TEDDM1 Nonsynonymous SNV P181A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 83662 chr1 183087253 183087253 C A rs781259872 LAMC1 Synonymous SNV I654I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 83663 chr1 185987403 185987403 G T HMCN1 Nonsynonymous SNV V1797L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 83664 chr1 186413314 186413314 G A rs145374370 PDC Nonsynonymous SNV R128C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 83665 chr1 190769033 190769033 T C rs12119860 LINC01720 0 0 0.061 0 0 0 0 18 0 0 0 0 1.732 83666 chr1 197097751 197097751 A G rs113161395 ASPM Synonymous SNV S935S 0.006 0.01 0.017 1 7 4 0.003 5 0 0 0 0 Benign 8.864 83667 chr1 197611892 197611892 G A rs1037386061 DENND1B Synonymous SNV A207A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.788 83668 chr1 19935118 19935118 - A rs138778783 RPS14P3 0 0 0.259 0 0 0 0 76 0 0 12 0 83669 chr1 200801935 200801935 A G rs41306231 CAMSAP2 Nonsynonymous SNV T297A 0.008 0.003 0.014 0 9 1 0 4 0 0 0 0 20.3 83670 chr1 201182529 201182529 C T rs545539669 IGFN1 Synonymous SNV D2836D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.219 83671 chr1 202795301 202795301 G A rs185194639 MGAT4EP 0 0 0.02 0 0 0 0 6 0 0 0 0 1.851 83672 chr1 203472098 203472098 G A rs77566947 OPTC Synonymous SNV P263P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.508 83673 chr1 205896395 205896395 G C rs142375896 SLC26A9 Nonsynonymous SNV L413V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 19.03 83674 chr1 20644099 20644099 G A rs368894341 VWA5B1 Nonsynonymous SNV E214K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.17 83675 chr1 20674820 20674820 G A rs199975900 VWA5B1 Synonymous SNV T949T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.682 83676 chr1 223285058 223285058 T C TLR5 Nonsynonymous SNV D439G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 83677 chr1 226109284 226109284 G A rs56362902 PYCR2 Synonymous SNV L127L 0.032 0.029 0.031 9 38 11 0.023 9 1 0 0 0 8.93 83678 chr1 226567287 226567287 C A rs200491303 PARP1 Synonymous SNV V533V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 83679 chr1 228786580 228786580 C T rs4654723 DUSP5P1 0 0 0.105 0 0 0 0 31 0 0 2 0 6.173 83680 chr1 228879367 228879367 C T rs61750988 RHOU Synonymous SNV I219I 0.007 0.01 0.003 5 8 4 0.013 1 0 0 0 0 16.83 83681 chr1 230904935 230904935 G A rs28359647 CAPN9 Nonsynonymous SNV A176T 0.009 0.008 0.024 4 10 3 0.01 7 0 0 0 0 11.86 83682 chr1 233759918 233759918 T C rs701213 MIR4427 0 0 0.204 0 0 0 0 60 0 0 3 0 2.082 83683 chr1 236208871 236208871 T C rs141083036 NID1 Nonsynonymous SNV N213S 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 0.002 83684 chr1 236687581 236687581 G - rs201470728 LGALS8-AS1 0 0 0.054 0 0 0 0 16 0 0 1 0 83685 chr1 236687782 236687782 A G rs3820564 LGALS8-AS1 0 0 0.071 0 0 0 0 21 0 0 1 0 4.247 83686 chr1 236714292 236714292 - A rs754657276 HEATR1 0 0 0.075 0 0 0 0 22 0 0 1 0 83687 chr1 236718626 236718626 T C rs749806008 HEATR1 Nonsynonymous SNV T1965A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 83688 chr1 238053918 238053918 G A rs35905278 ZP4 Synonymous SNV C6C 0.003 0 0.007 4 3 0 0.01 2 0 0 0 0 3.24 83689 chr1 238090602 238090607 GGGTCA - rs398089991 LOC100130331 0 0 0.201 0 0 0 0 59 0 0 12 0 83690 chr1 238090615 238090615 T C rs2790341 LOC100130331 0 0 0.211 0 0 0 0 62 0 0 12 0 1.075 83691 chr1 248186129 248186131 AAG - rs202091004 OR2L5 K294del 0.013 0.018 0.014 7 15 7 0.018 4 0 0 0 0 83692 chr1 248285836 248285836 T G rs115112122 OR2M1P 0.013 0.018 0.014 7 15 7 0.018 4 0 0 0 0 0.961 83693 chr1 248308934 248308934 C T rs77923536 OR2M5 Nonsynonymous SNV A162V 0.013 0.018 0.014 7 15 7 0.018 4 0 0 0 0 8.453 83694 chr1 248309159 248309159 C A rs41304157 OR2M5 Nonsynonymous SNV A237D 0.013 0.018 0.014 7 15 7 0.018 4 0 0 0 0 29 83695 chr1 28206284 28206284 G A rs200209595 THEMIS2 Nonsynonymous SNV R122K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.42 83696 chr1 32681069 32681069 C A rs11590012 DCDC2B Nonsynonymous SNV H293Q 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 0.531 83697 chr1 32681070 32681070 C A rs11590013 DCDC2B Synonymous SNV R294R 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 15.71 83698 chr1 32797085 32797085 C T rs371949315 HDAC1 Synonymous SNV Y330Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.925 83699 chr1 33233446 33233446 G T rs748715221 KIAA1522 Synonymous SNV G39G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.705 83700 chr1 36636854 36636854 G A rs112601844 MAP7D1 Nonsynonymous SNV R110Q 0.017 0.005 0.017 5 20 2 0.013 5 0 0 0 0 22.5 83701 chr1 3683159 3683159 A C rs144089943 CCDC27 Nonsynonymous SNV N505H 0.009 0.013 0.037 2 10 5 0.005 11 0 0 0 0 24.2 83702 chr1 39339682 39339682 T C rs4494114 GJA9-MYCBP 0 0 0.381 0 0 0 0 112 0 0 33 0 4.526 83703 chr1 39852860 39852860 C T rs200233678 MACF1 Synonymous SNV A2720A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.813 83704 chr1 41157700 41157700 C T rs34027220 NFYC-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 9.543 83705 chr1 43907225 43907225 T C rs150113647 SZT2 Nonsynonymous SNV V2464A 0.008 0.01 0.014 2 9 4 0.005 4 0 0 0 0 Benign/Likely benign 21.6 83706 chr1 49005351 49005351 C T rs60977321 AGBL4 Nonsynonymous SNV V455M 0.001 0.005 0.017 0 1 2 0 5 0 0 0 0 10.95 83707 chr1 53544271 53544271 G C rs62000444 PODN Synonymous SNV T411T 0.001 0.005 0.02 1 1 2 0.003 6 0 0 1 0 8.324 83708 chr1 54605426 54605426 C G rs139868539 CDCP2 Nonsynonymous SNV V373L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 83709 chr1 54703702 54703702 C A rs946443 SSBP3-AS1 0 0 0.065 0 0 0 0 19 0 0 0 0 5.597 83710 chr1 57425792 57425792 G C rs150386354 C8B Nonsynonymous SNV S50R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.593 83711 chr1 6111627 6111627 C T rs993237505 KCNAB2 Nonsynonymous SNV R11W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 83712 chr1 6693102 6693102 C T rs56014220 THAP3 Nonsynonymous SNV L228F 0.015 0.005 0.007 5 18 2 0.013 2 0 0 0 0 16.33 83713 chr1 70881670 70881670 C T rs28941785 CTH Nonsynonymous SNV T67I 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 32 83714 chr1 76255197 76255197 A - rs112787135 SNORD45B 0 0 0.024 0 0 0 0 7 0 0 0 0 83715 chr1 89486300 89486300 T C GBP3 Synonymous SNV T35T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.594 83716 chr1 92442915 92442915 G A rs142308966 BRDT Nonsynonymous SNV V266I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.437 83717 chr1 9305335 9305335 C T rs138024142 H6PD Synonymous SNV A125A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.341 83718 chr1 94054627 94054627 G A rs2137623 BCAR3 Nonsynonymous SNV T188I 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 0.353 83719 chr1 94057720 94057720 T A rs236326 LOC100129046 0 0 0.15 0 0 0 0 44 0 0 6 0 4.922 83720 chr1 957640 957640 C T rs6657048 AGRN Synonymous SNV D87D 0.024 0.026 0.014 6 28 10 0.015 4 0 0 1 0 Benign 12.56 83721 chr1 9777599 9777599 C G rs61755420 PIK3CD Nonsynonymous SNV S283C 0.01 0.016 0.037 9 12 6 0.023 11 0 0 0 0 Benign 23.1 83722 chr1 982722 982722 A G rs142416636 AGRN Nonsynonymous SNV Q1135R 0.013 0.021 0.02 6 15 8 0.015 6 0 0 1 0 Benign 23.7 83723 chr20 18810831 18810831 G C rs569073107 C20orf78 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.388 83724 chr20 23065548 23065548 C A rs41347947 CD93 Nonsynonymous SNV V428L 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign 15.97 83725 chr20 2635504 2635504 T C rs34450120 NOP56 Synonymous SNV N160N 0.01 0.008 0.014 0 12 3 0 4 0 0 0 0 0.021 83726 chr20 2638727 2638727 G A rs61739391 NOP56 Synonymous SNV E524E 0.009 0.008 0.014 0 11 3 0 4 0 0 0 0 1.267 83727 chr20 2816327 2816327 A G rs34681425 PCED1A Synonymous SNV P331P 0.002 0 0.017 0 2 0 0 5 0 0 0 0 4.487 83728 chr20 30898728 30898728 G T rs749727452 KIF3B Nonsynonymous SNV R383L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 83729 chr20 33874659 33874659 G A rs143634055 FAM83C Synonymous SNV F641F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 83730 chr20 3675432 3675432 G T rs147366645 SIGLEC1 Nonsynonymous SNV T941N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.631 83731 chr20 3678669 3678669 C G rs146622004 SIGLEC1 Nonsynonymous SNV R633T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.285 83732 chr20 37580670 37580670 C G rs41276984 FAM83D Nonsynonymous SNV T422S 0.01 0.01 0.02 6 12 4 0.015 6 0 0 0 0 10.14 83733 chr20 41306603 41306603 G A rs190523853 PTPRT Synonymous SNV P352P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 83734 chr20 44841773 44841773 C A CDH22 Nonsynonymous SNV R298L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 83735 chr20 45874947 45874947 C T rs186368701 ZMYND8 Nonsynonymous SNV E625K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 83736 chr20 45947646 45947646 C T rs139920008 LOC100131496 0 0 0.007 0 0 0 0 2 0 0 0 0 10.22 83737 chr20 52193081 52193081 T C rs569839543 ZNF217 Nonsynonymous SNV K741R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 83738 chr20 55750060 55750060 T C rs61733438 BMP7 Nonsynonymous SNV N321S 0.003 0.003 0.027 1 4 1 0.003 8 0 0 0 0 Benign 0.009 83739 chr20 55931567 55931567 G A RAE1 Synonymous SNV G87G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 83740 chr20 60889993 60889993 C T rs199977223 LAMA5 Synonymous SNV L2686L 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 12.44 83741 chr20 62127326 62127326 G A rs3818681 EEF1A2 Synonymous SNV R69R 0.01 0.008 0.024 4 12 3 0.01 7 0 0 0 0 Benign 12.98 83742 chr20 9547022 9547022 C G rs58486349 PAK5 Nonsynonymous SNV D334H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 83743 chr21 33974570 33974570 G C rs751242770 CFAP298 Nonsynonymous SNV D258E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.573 83744 chr21 35742947 35742947 T C rs74315448 KCNE2 Nonsynonymous SNV I57T 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 83745 chr21 37603028 37603028 C T rs77696046 DOP1B Nonsynonymous SNV A649V 0.005 0.003 0.017 6 6 1 0.015 5 0 0 0 0 Benign 10.18 83746 chr21 43176894 43176894 G A rs201602859 RIPK4 Nonsynonymous SNV R89C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.8 83747 chr21 43221841 43221841 C T rs750015279 PRDM15 Synonymous SNV S1032S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.943 83748 chr21 43523572 43523572 G A rs111297491 UMODL1-AS1 0 0 0.044 0 0 0 0 13 0 0 0 0 4.428 83749 chr21 45107579 45107579 C T RRP1B Nonsynonymous SNV R442C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.07 83750 chr21 45833916 45833916 C T rs45498695 TRPM2 Synonymous SNV F1035F 0.005 0.008 0.024 1 6 3 0.003 7 0 0 0 0 13.02 83751 chr21 46354048 46354048 G A rs182562178 LINC01547 0 0 0.003 0 0 0 0 1 0 0 0 0 2.767 83752 chr21 47817247 47817247 C T rs62224222 PCNT Nonsynonymous SNV R1311C 0.006 0 0.02 0 7 0 0 6 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 83753 chr21 47822309 47822309 T C rs140290722 PCNT Nonsynonymous SNV I1558T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22 83754 chr22 24759288 24759288 A T SPECC1L Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 83755 chr22 26860708 26860708 G A rs138343171 HPS4 Synonymous SNV N291N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.701 83756 chr22 27446079 27446079 C A rs17344840 LOC284898 0.009 0.013 0.01 3 11 5 0.008 3 0 0 0 0 1.484 83757 chr22 30766177 30766177 G A rs41309647 KIAA1656 0 0 0.014 0 0 0 0 4 0 0 0 0 1.302 83758 chr22 30766698 30766698 G A rs141091935 CCDC157 Synonymous SNV P268P 0.002 0.005 0.003 5 2 2 0.013 1 0 0 0 0 3.924 83759 chr22 32014123 32014123 A G rs571146351 SFI1 Nonsynonymous SNV S1124G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 83760 chr22 32108481 32108481 T C rs200173530 PRR14L Nonsynonymous SNV T1782A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.172 83761 chr22 37322119 37322119 C T CSF2RB Synonymous SNV V97V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 83762 chr22 38120542 38120542 C T rs142024473 TRIOBP Nonsynonymous SNV A660V 0.045 0.042 0.054 20 53 16 0.051 16 1 2 1 1 Benign 22.4 83763 chr22 38121013 38121013 C G rs41302575 TRIOBP Nonsynonymous SNV T817S 0.045 0.042 0.054 20 53 16 0.051 16 1 2 1 1 14.05 83764 chr22 43623383 43623383 C T rs201262266 SCUBE1 Nonsynonymous SNV V402M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 83765 chr22 45182425 45182425 T A rs138492067 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV P6P 0.008 0.008 0.007 5 9 3 0.013 2 0 0 0 0 5.129 83766 chr22 45960864 45960864 G T rs112501521 FBLN1 Nonsynonymous SNV D600Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.641 83767 chr22 46505819 46505819 A T rs62225901 MIRLET7BHG 0 0 0.065 0 0 0 0 19 0 0 0 0 0.016 83768 chr22 46762345 46762345 G A rs74699704 CELSR1 Synonymous SNV D2746D 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign 1.858 83769 chr22 46829377 46829377 G A rs61737816 CELSR1 Synonymous SNV G1508G 0.045 0.039 0.044 20 53 15 0.051 13 3 0 0 0 2.689 83770 chr22 48942339 48942339 C T rs111870101 LOC284933 0 0 0.088 0 0 0 0 26 0 0 2 0 9.746 83771 chr22 50832405 50832405 C T rs142606064 PPP6R2 Nonsynonymous SNV T23M 0 0 0.007 0 0 0 0 2 0 0 0 0 32 83772 chr2 101591956 101591956 C T rs771178920 NPAS2 Nonsynonymous SNV P440L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 83773 chr2 101967506 101967506 C T rs149973647 CREG2 Nonsynonymous SNV R251H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 83774 chr2 102641092 102641092 C T rs147914094 IL1R2 Synonymous SNV S283S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.97 83775 chr2 111399363 111399363 G A rs141293590 BUB1 Synonymous SNV N807N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.464 83776 chr2 112751873 112751873 A G MERTK Nonsynonymous SNV I448V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 83777 chr2 121223274 121223274 C T rs17050160 LINC01101 0 0 0.085 0 0 0 0 25 0 0 1 0 14.28 83778 chr2 125660609 125660609 C T rs34165507 CNTNAP5 Nonsynonymous SNV T1196M 0.025 0.018 0.034 11 29 7 0.028 10 0 0 0 0 12.7 83779 chr2 131672388 131672388 C T rs116650837 ARHGEF4 Nonsynonymous SNV S290L 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 2.654 83780 chr2 131673580 131673580 T A rs199747870 ARHGEF4 Nonsynonymous SNV N687K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.737 83781 chr2 136598414 136598414 G A rs762431547 MCM6 Synonymous SNV L819L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.416 83782 chr2 152584296 152584296 C T rs1014627144 NEB Nonsynonymous SNV R68K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.4 83783 chr2 155294058 155294058 T C rs707065 LOC100144595 0 0 0.02 0 0 0 0 6 0 0 0 0 4.434 83784 chr2 15613369 15613369 C T rs150197485 NBAS Nonsynonymous SNV V568I 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign/Likely benign 3.213 83785 chr2 15614343 15614343 C G rs374972400 NBAS Nonsynonymous SNV A483P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23 83786 chr2 157185019 157185019 G A NR4A2 Synonymous SNV Y297Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.689 83787 chr2 160708758 160708758 G T LY75, LY75-CD302 Nonsynonymous SNV A946E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 83788 chr2 166003301 166003301 G A rs147678484 SCN3A Nonsynonymous SNV S540F 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Likely benign 28.4 83789 chr2 170103471 170103471 C T rs17848143 LRP2 Synonymous SNV T978T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 9.598 83790 chr2 170557846 170557846 T A rs747541578 PHOSPHO2 Nonsynonymous SNV F122Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 83791 chr2 171258055 171258055 C T rs773563901 MYO3B Synonymous SNV V661V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 83792 chr2 179318222 179318222 A G rs200502817 PJVK Nonsynonymous SNV D29G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 83793 chr2 179430158 179430158 T C rs201562505 TTN Nonsynonymous SNV I17836V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.34 83794 chr2 179477267 179477267 T G rs36043230 TTN Nonsynonymous SNV N7597T 0.019 0.016 0.037 8 22 6 0.021 11 0 0 0 0 Benign/Likely benign 14.37 83795 chr2 179482763 179482763 C T rs72677233 TTN Nonsynonymous SNV R6707Q 0.006 0.018 0.017 6 7 7 0.015 5 0 0 0 0 Conflicting interpretations of pathogenicity 19.27 83796 chr2 179594107 179594107 G C rs72648949 TTN Nonsynonymous SNV T5015S 0.007 0.018 0.014 6 8 7 0.015 4 0 0 0 0 Conflicting interpretations of pathogenicity 9.716 83797 chr2 17963123 17963123 A G rs77424145 GEN1 Nonsynonymous SNV K882E 0.012 0.01 0.014 1 14 4 0.003 4 0 0 0 0 12.39 83798 chr2 191235868 191235868 A C rs369912593 INPP1 Nonsynonymous SNV K314Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 25.7 83799 chr2 200803660 200803660 T C TYW5 Nonsynonymous SNV Y161C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 83800 chr2 201726447 201726447 T C CLK1 Nonsynonymous SNV N89D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 83801 chr2 201728911 201728911 C T CLK1 Synonymous SNV P13P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 83802 chr2 202357196 202357196 A G rs184129762 C2CD6 Nonsynonymous SNV F1290L 0.008 0.003 0.003 6 9 1 0.015 1 0 0 0 0 1.709 83803 chr2 202503751 202503751 G A rs200714434 TMEM237 Nonsynonymous SNV R33C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 83804 chr2 212543881 212543881 C T rs867969249 ERBB4 Synonymous SNV L506L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 83805 chr2 216238125 216238125 G A rs564645723 FN1 Nonsynonymous SNV P1875L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 83806 chr2 219528762 219528762 G C rs115343354 RNF25 Nonsynonymous SNV P433R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.55 83807 chr2 220333321 220333321 G A rs35181232 SPEG Nonsynonymous SNV R1055Q 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Benign 27.6 83808 chr2 220424170 220424170 G A rs150691758 OBSL1 Synonymous SNV A1001A 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Benign 15.75 83809 chr2 220439474 220439474 C T rs36032184 INHA Synonymous SNV G109G 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 7.083 83810 chr2 228243902 228243902 A G rs138536526 TM4SF20 Nonsynonymous SNV I28T 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 2.942 83811 chr2 228883583 228883583 C T rs115375305 SPHKAP Nonsynonymous SNV V663I 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 9.115 83812 chr2 233323405 233323405 C T rs376288567 ALPI Nonsynonymous SNV P416L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 83813 chr2 239133980 239133980 C T rs7558525 LINC02610 0 0 0.279 0 0 0 0 82 0 0 14 0 15.5 83814 chr2 239134063 239134063 G T rs7584376 LINC02610 0 0 0.282 0 0 0 0 83 0 0 14 0 10.78 83815 chr2 239134138 239134138 A C rs7572392 LINC02610 0 0 0.282 0 0 0 0 83 0 0 14 0 0.028 83816 chr2 241396069 241396069 A G rs564190210 LOC100130449 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 83817 chr2 241401917 241401917 G A rs545177373 GPC1 Nonsynonymous SNV R212Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.38 83818 chr2 241627836 241627836 G C rs1003972 LOC285191 0 0 0.085 0 0 0 0 25 0 0 0 0 1.34 83819 chr2 241826558 241826558 C T rs199655663 MAB21L4 Nonsynonymous SNV D425N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.5 83820 chr2 242139600 242139600 G A rs77482050 ANO7 Nonsynonymous SNV E172K 0.011 0.01 0.003 3 13 4 0.008 1 0 0 0 0 22.9 83821 chr2 24240213 24240213 C T rs368293910 MFSD2B Nonsynonymous SNV R177W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 83822 chr2 242842568 242842568 C T rs3934497 LOC285095 0 0 0.146 0 0 0 0 43 0 0 3 0 2.757 83823 chr2 24980893 24980893 A G rs367790772 NCOA1 Synonymous SNV V1311V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.337 83824 chr2 27805021 27805021 G A rs372151128 C2orf16 Nonsynonymous SNV R1861H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.891 83825 chr2 31489309 31489309 C T rs61745772 EHD3 Synonymous SNV D449D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.46 83826 chr2 32897368 32897368 G T rs199762221 TTC27 Synonymous SNV L273L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.512 83827 chr2 3504635 3504635 T C rs146031218 ADI1 Nonsynonymous SNV M118V 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 16.5 83828 chr2 54895563 54895563 C A SPTBN1 Nonsynonymous SNV Q2318K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 83829 chr2 55184985 55184985 C T rs374215426 EML6 Synonymous SNV R1515R 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 13.64 83830 chr2 62228013 62228013 C T rs55677935 COMMD1 Nonsynonymous SNV R54W 0.02 0.018 0.024 7 23 7 0.018 7 1 0 0 0 34 83831 chr2 70165240 70165240 G A rs772363417 MXD1 Nonsynonymous SNV V154I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 83832 chr2 97527545 97527545 G A rs35663590 SEMA4C Synonymous SNV V510V 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 11.91 83833 chr2 97531651 97531651 G A rs141610691 SEMA4C Nonsynonymous SNV P92S 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 13.86 83834 chr2 99006144 99006144 C T rs138934573 CNGA3 Nonsynonymous SNV A140V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.808 83835 chr3 101284747 101284747 A G rs376675284 TRMT10C Synonymous SNV Q374Q 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 Likely benign 0.003 83836 chr3 105421034 105421034 C T rs3772534 CBLB Synonymous SNV A572A 0.016 0.016 0.031 7 19 6 0.018 9 0 0 0 0 13.14 83837 chr3 109136885 109136885 A T rs6802687 LINC01205 0 0 0.194 0 0 0 0 57 0 0 18 0 5.785 83838 chr3 110841054 110841054 A C rs79006549 NECTIN3 Nonsynonymous SNV N296H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely pathogenic 25.6 83839 chr3 112357730 112357730 C A rs115738438 CCDC80 Nonsynonymous SNV L341F 0.009 0.021 0.007 0 11 8 0 2 0 0 0 0 8.778 83840 chr3 112358171 112358171 A T rs116819563 CCDC80 Synonymous SNV G194G 0.009 0.021 0.007 0 11 8 0 2 0 0 0 0 0.002 83841 chr3 113003273 113003273 G T rs3814405 BOC Nonsynonymous SNV Q916H 0.005 0.003 0.034 3 6 1 0.008 10 0 0 0 0 10.65 83842 chr3 113003330 113003330 C G rs750491112 BOC Nonsynonymous SNV I935M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 83843 chr3 113775225 113775225 T G rs188278742 CCDC191 Nonsynonymous SNV K30T 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 23.8 83844 chr3 121209041 121209041 G A rs143795781 POLQ Nonsynonymous SNV H913Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.39 83845 chr3 122152573 122152573 C T rs61750349 KPNA1 Synonymous SNV R395R 0.016 0.016 0.017 3 19 6 0.008 5 0 0 0 0 Benign 16.01 83846 chr3 126220078 126220078 G A rs34663426 UROC1 Synonymous SNV G316G 0.01 0.008 0.01 9 12 3 0.023 3 0 0 0 0 7.89 83847 chr3 127334777 127334777 G A rs13087457 MCM2 Nonsynonymous SNV G501R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 32 83848 chr3 128695828 128695828 G A rs145753263 KIAA1257 Nonsynonymous SNV T6M 0.025 0.034 0.051 12 29 13 0.031 15 1 1 1 0 2.274 83849 chr3 129290402 129290402 T C PLXND1 Nonsynonymous SNV M1096V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.762 83850 chr3 136573700 136573700 C T SLC35G2 Nonsynonymous SNV S133F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 83851 chr3 139065748 139065748 A G rs11556243 MRPS22 Synonymous SNV K26K 0.012 0.008 0.017 5 14 3 0.013 5 0 0 0 0 Benign/Likely benign 6.83 83852 chr3 14106441 14106441 C T rs758244840 TPRXL 0 0 0.003 0 0 0 0 1 0 0 0 0 2.513 83853 chr3 14799168 14799168 C - C3orf20 C624Afs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 83854 chr3 15298788 15298802 TAAAGCAGCTGGAAG - rs564605440 SH3BP5-AS1 0 0 0.068 0 0 0 0 20 0 0 1 0 83855 chr3 160138558 160138558 G A rs930184833 SMC4 Nonsynonymous SNV D630N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 83856 chr3 171392347 171392347 T C PLD1 Synonymous SNV Q686Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.838 83857 chr3 182751846 182751846 C T rs34749281 MCCC1 Synonymous SNV S421S 0.038 0.026 0.007 10 45 10 0.026 2 0 1 0 0 Benign/Likely benign 18.24 83858 chr3 183957263 183957263 C T rs889785369 VWA5B2 Nonsynonymous SNV R544W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 83859 chr3 184049143 184049143 C T rs76779558 EIF4G1 Synonymous SNV V1222V 0.055 0.047 0.041 21 64 18 0.054 12 3 1 0 1 19.93 83860 chr3 184101360 184101360 C G rs145871696 CHRD Nonsynonymous SNV T457S 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Likely benign 22.8 83861 chr3 184103839 184103839 G A rs34052076 CHRD Synonymous SNV Q608Q 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 7.668 83862 chr3 195426305 195426305 T C rs9860655 MIR570 0 0 0.126 0 0 0 0 37 0 0 0 0 0.231 83863 chr3 195477815 195477815 C T MUC4 Synonymous SNV R985R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.228 83864 chr3 197678177 197678177 A G rs983892967 RPL35A Synonymous SNV A53A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 83865 chr3 21448176 21448180 AAAAA - rs535610863 VENTXP7 0 0 0.031 0 0 0 0 9 0 0 4 0 83866 chr3 37379190 37379190 G T rs773058450 GOLGA4 Nonsynonymous SNV D2136Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 83867 chr3 38103776 38103776 G A rs116202356 DLEC1 Nonsynonymous SNV E264K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 5.229 83868 chr3 46724772 46724772 C T rs138226157 ALS2CL Synonymous SNV L319L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.495 83869 chr3 46850942 46850942 A G rs189668768 PRSS44P 0 0 0.058 0 0 0 0 17 0 0 2 0 0.523 83870 chr3 4829711 4829711 A G rs34491089 ITPR1 Synonymous SNV K2169K 0.009 0.013 0.014 2 11 5 0.005 4 0 0 0 0 Likely benign 0.018 83871 chr3 48476261 48476261 T C rs113958192 CCDC51 Nonsynonymous SNV N93S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.014 83872 chr3 49039982 49039982 G A rs145882337 P4HTM Nonsynonymous SNV S226N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.461 83873 chr3 53910109 53910109 - GG ACTR8 0 0.003 0.014 0 0 1 0 4 0 0 0 0 83874 chr3 57131807 57131807 C T rs61740622 IL17RD Nonsynonymous SNV A642T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 10.17 83875 chr3 9918811 9918811 G A rs61742367 CIDEC Nonsynonymous SNV T49M 0.019 0.01 0.044 14 22 4 0.036 13 1 0 0 0 Benign 23.5 83876 chr3 9934753 9934753 A G rs35365817 JAGN1 Nonsynonymous SNV I28V 0.015 0.013 0.048 18 18 5 0.046 14 1 0 0 0 Benign 9.646 83877 chr4 100229021 100229021 A C rs74990410 ADH1B Nonsynonymous SNV S368R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.23 83878 chr4 100518331 100518331 G A rs772748057 MTTP Synonymous SNV A366A 0 0 0.007 0 0 0 0 2 0 0 0 0 15.48 83879 chr4 100571118 100571118 G A rs746313145 C4orf54 Nonsynonymous SNV P1563L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.913 83880 chr4 101108934 101108934 G A rs11553154 DDIT4L Nonsynonymous SNV S161F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 24.9 83881 chr4 102816488 102816488 C T rs141871370 BANK1 Synonymous SNV V177V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.29 83882 chr4 110765315 110765315 G A rs144856430 RRH Nonsynonymous SNV D326N 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 8.927 83883 chr4 113353522 113353522 G T rs202234442 ALPK1 Nonsynonymous SNV G862V 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 83884 chr4 114277610 114277610 A G rs1060504153 ANK2 Synonymous SNV K2612K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.007 83885 chr4 1210352 1210352 C A rs75408274 CTBP1-AS 0 0 0.007 0 0 0 0 2 0 0 0 0 2.416 83886 chr4 1211378 1211378 C T rs190876273 CTBP1-AS 0 0 0.01 0 0 0 0 3 0 0 0 0 2.92 83887 chr4 1211382 1211382 G A rs111460513 CTBP1-AS 0 0 0.01 0 0 0 0 3 0 0 0 0 0.894 83888 chr4 122744706 122744706 G C rs368392641 CCNA2 Synonymous SNV L26L 0 0 0.007 0 0 0 0 2 0 0 0 0 3.585 83889 chr4 122768649 122768649 C T BBS7 Nonsynonymous SNV G316D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 83890 chr4 125592121 125592121 C T rs139677250 ANKRD50 Nonsynonymous SNV G592R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 83891 chr4 13530604 13530604 T C rs73100440 LINC01097 0 0 0.105 0 0 0 0 31 0 0 3 0 1.704 83892 chr4 151753010 151753010 C A rs745528043 LRBA Nonsynonymous SNV C1563F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.214 83893 chr4 15516435 15516435 A G rs368471984 CC2D2A Nonsynonymous SNV I275V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 83894 chr4 155219250 155219250 A G rs150202160 DCHS2 Synonymous SNV T2072T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.021 83895 chr4 156784671 156784671 G A rs17033623 ASIC5 Synonymous SNV T92T 0.019 0.023 0.027 12 22 9 0.031 8 0 0 0 2 9.55 83896 chr4 1659162 1659162 C T rs3860715 FAM53A Nonsynonymous SNV G37S 0.009 0.005 0.01 2 11 2 0.005 3 1 0 0 0 22 83897 chr4 184129137 184129137 A G rs200133182 WWC2 Synonymous SNV Q91Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.024 83898 chr4 184932523 184932523 C T rs17365239 STOX2 Synonymous SNV L844L 0.01 0.008 0.02 4 12 3 0.01 6 1 0 0 0 6.046 83899 chr4 186241986 186241986 G A rs35700132 SNX25 Nonsynonymous SNV E318K 0.004 0.003 0.024 5 5 1 0.013 7 0 0 0 0 26.2 83900 chr4 186508805 186508805 G T rs61744509 SORBS2 Synonymous SNV P997P 0.009 0.029 0.027 4 10 11 0.01 8 0 0 0 0 14.65 83901 chr4 22404357 22404357 G A rs61736467 ADGRA3 Synonymous SNV T766T 0.018 0.008 0.034 5 21 3 0.013 10 0 0 0 0 Benign 13.15 83902 chr4 265815 265815 G C rs782115245 ZNF732 Synonymous SNV P277P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.281 83903 chr4 2698230 2698230 G A rs16843217 FAM193A Synonymous SNV V848V 0.007 0.029 0.014 9 8 11 0.023 4 0 0 0 0 9.046 83904 chr4 36126538 36126538 G C ARAP2 Nonsynonymous SNV S1231C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.56 83905 chr4 38799274 38799274 C A rs751877422 TLR1 Nonsynonymous SNV M393I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 83906 chr4 38987965 38987965 C T rs75988651 TMEM156 Nonsynonymous SNV V272I 0.043 0.034 0.041 13 50 13 0.033 12 1 0 0 0 23.6 83907 chr4 39482384 39482384 A G rs10009841 LOC401127 0 0 0.068 0 0 0 0 20 0 0 1 0 8.955 83908 chr4 39483038 39483038 C T rs16995316 LOC401127 0 0 0.054 0 0 0 0 16 0 0 1 0 1.566 83909 chr4 40045687 40045687 C T rs17585937 LOC344967 0 0 0.146 0 0 0 0 43 0 0 4 0 6.589 83910 chr4 40339250 40339250 T C rs55998310 CHRNA9 Synonymous SNV T78T 0.009 0.005 0.02 2 11 2 0.005 6 0 0 0 0 0.07 83911 chr4 47954624 47954624 C T rs76537883 CNGA1 Nonsynonymous SNV R101Q 0.004 0.016 0.01 1 5 6 0.003 3 0 0 0 0 Uncertain significance 24.9 83912 chr4 54218924 54218924 C A rs79025139 SCFD2 Nonsynonymous SNV G283V 0.002 0.01 0.003 1 2 4 0.003 1 0 1 0 0 28.7 83913 chr4 5527008 5527008 C T rs2267655 LINC01587 0 0 0.153 0 0 0 0 45 0 0 10 0 13.18 83914 chr4 55599358 55599358 C T rs141347955 KIT Synonymous SNV N828N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.164 83915 chr4 57314950 57314950 C G rs190379455 PAICS Synonymous SNV L216L 0.004 0.005 0.014 1 5 2 0.003 4 0 0 0 0 12.51 83916 chr4 6293088 6293088 G A rs765260306 WFS1 Nonsynonymous SNV E209K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 83917 chr4 6718124 6718124 G A rs530613836 BLOC1S4 Nonsynonymous SNV R63H 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 25.6 83918 chr4 68586231 68586231 C T rs149673034 UBA6-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 83919 chr4 8229378 8229378 C T rs139890356 SH3TC1 Nonsynonymous SNV R577W 0.014 0.013 0.017 9 16 5 0.023 5 0 0 0 0 25.2 83920 chr4 83838518 83838518 G A rs376697528 THAP9 Nonsynonymous SNV A385T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 15.59 83921 chr4 85663064 85663064 T G WDFY3 Synonymous SNV A2028A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.731 83922 chr4 87671750 87671750 A G rs10516781 PTPN13 Synonymous SNV S926S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.322 83923 chr4 88235097 88235097 G - rs80182459 HSD17B13 A156Lfs*8 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 83924 chr4 88415194 88415194 A T rs61731012 SPARCL1 Nonsynonymous SNV V128E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 17.06 83925 chr4 88537522 88537522 C T rs111884410 DSPP Synonymous SNV D1236D 0.001 0 0.075 0 1 0 0 22 0 0 1 0 Benign 7.71 83926 chr4 90872862 90872862 C A rs61734879 MMRN1 Nonsynonymous SNV N1075K 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 1 27.1 83927 chr5 109864483 109864483 T C rs17132193 TMEM232 Synonymous SNV S503S 0.018 0.005 0.017 11 21 2 0.028 5 1 0 0 1 0.042 83928 chr5 112630074 112630074 G A rs113991478 MCC Synonymous SNV S3S 0.013 0.021 0.02 5 15 8 0.013 6 0 0 0 0 19.51 83929 chr5 1216931 1216931 C T rs139103369 SLC6A19 Synonymous SNV F348F 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 11.21 83930 chr5 134679247 134679247 C T rs2292011 C5orf66 0 0 0.122 0 0 0 0 36 0 0 2 0 6.19 83931 chr5 135287013 135287013 C T rs149560293 LECT2 Nonsynonymous SNV G63E 0.025 0.013 0.024 10 29 5 0.026 7 0 0 0 0 24.1 83932 chr5 137089237 137089237 T C rs144520795 HNRNPA0 Synonymous SNV A173A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.244 83933 chr5 139905844 139905844 G A rs1051309 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV G1586S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 23.4 83934 chr5 140181193 140181193 A G rs61730634 PCDHA3 Synonymous SNV V137V 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 0.933 83935 chr5 140182819 140182819 G T rs34395025 PCDHA3 Synonymous SNV S679S 0.013 0.01 0.017 3 15 4 0.008 5 0 0 0 0 Benign 8.32 83936 chr5 140614165 140614165 C T rs73281222 PCDHB18P 0 0 0.194 0 0 0 0 57 0 0 4 0 15.29 83937 chr5 140620222 140620225 CCAC - rs138722366 PCDHB19P 0 0 0.197 0 0 0 0 58 0 0 4 0 83938 chr5 140620228 140620228 T C rs111514971 PCDHB19P 0 0 0.194 0 0 0 0 57 0 0 4 0 6.64 83939 chr5 140741245 140741245 T C rs192424877 PCDHGB2 Nonsynonymous SNV F515L 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 24.1 83940 chr5 140755860 140755860 G C rs189836587 PCDHGA6 Nonsynonymous SNV G737A 0.007 0 0.003 5 8 0 0.013 1 0 0 0 0 0.002 83941 chr5 140806457 140806457 A G PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 83942 chr5 140870270 140870270 G A rs201409669 PCDHGC5 Nonsynonymous SNV R488H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 83943 chr5 147505145 147505145 G A rs754188927 SPINK5 Nonsynonymous SNV R933H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.5 83944 chr5 149433902 149433902 C T rs142435467 CSF1R Nonsynonymous SNV E916K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 8.537 83945 chr5 150696609 150696609 G A rs61737609 SLC36A2 Synonymous SNV I407I 0.036 0.023 0.024 13 42 9 0.033 7 0 0 0 0 14.18 83946 chr5 150844647 150844647 C G rs34478431 SLC36A1 Synonymous SNV S112S 0.034 0.029 0.034 15 40 11 0.038 10 0 0 0 0 14.78 83947 chr5 154209024 154209024 A G rs702742 MIR378H 0 0 0.126 0 0 0 0 37 0 0 2 0 4.074 83948 chr5 159840935 159840935 T A rs41275313 SLU7 Nonsynonymous SNV M141L 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 18.77 83949 chr5 162909956 162909956 G - rs5872824 HMMR-AS1 0 0 0.187 0 0 0 0 55 0 0 8 0 83950 chr5 16670895 16670895 C G MYO10 Nonsynonymous SNV E1875Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23 83951 chr5 167689228 167689228 C A rs191390427 TENM2 Synonymous SNV R2341R 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 15.24 83952 chr5 168114030 168114030 C T rs148887706 SLIT3 Nonsynonymous SNV V1097M 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 5.48 83953 chr5 169028514 169028514 A T rs144151613 SPDL1 Nonsynonymous SNV N519Y 0.008 0.003 0.01 0 9 1 0 3 0 0 0 0 22.9 83954 chr5 170883657 170883657 C A rs747260194 FGF18 Synonymous SNV R158R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 83955 chr5 172382133 172382133 T - rs58150544 LOC100268168 0 0 0.071 0 0 0 0 21 0 0 7 0 83956 chr5 172662014 172662014 G A rs28936670 NKX2-5 Nonsynonymous SNV R25C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 83957 chr5 178413380 178413380 G A rs62638215 GRM6 Synonymous SNV Y625Y 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Benign/Likely benign 7.083 83958 chr5 180052946 180052946 G A rs3736062 FLT4 Synonymous SNV Y448Y 0.038 0.042 0.041 15 45 16 0.038 12 2 0 0 0 Benign 7.67 83959 chr5 33988581 33988581 C A rs12659370 C1QTNF3-AMACR 0.005 0.005 0.051 0 6 2 0 15 1 0 1 0 Likely benign 4.951 83960 chr5 35659160 35659160 C T rs758993373 SPEF2 Nonsynonymous SNV R340W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 83961 chr5 442675 442675 C T rs139173233 EXOC3-AS1 0 0 0.048 0 0 0 0 14 0 0 1 0 16.89 83962 chr5 472055 472055 C T rs1053226 PP7080 0 0 0.037 0 0 0 0 11 0 0 0 0 1.943 83963 chr5 55247844 55247844 C G IL6ST Nonsynonymous SNV E206Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 83964 chr5 65350232 65350232 A G ERBIN Nonsynonymous SNV N1029S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 83965 chr5 68716162 68716162 G A rs148416461 MARVELD2 Nonsynonymous SNV R317Q 0 0 0.007 0 0 0 0 2 0 0 0 0 34 83966 chr5 70308262 70308262 C T rs61757629 NAIP Nonsynonymous SNV A161T 0.028 0.049 0.041 12 33 19 0.031 12 1 2 1 0 12.57 83967 chr5 75967722 75967722 C T rs76979655 IQGAP2 Synonymous SNV D490D 0.011 0.016 0.014 5 13 6 0.013 4 0 0 0 0 Benign 10.66 83968 chr5 76115069 76115069 C T rs2243072 F2RL1 Nonsynonymous SNV S21F 0.004 0.008 0.01 3 5 3 0.008 3 0 0 0 0 22.2 83969 chr5 78181471 78181471 G A rs140923667 ARSB Synonymous SNV L360L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.8 83970 chr5 79368392 79368392 A G rs12110039 CTD-2201I18.1 0 0 0.204 0 0 0 0 60 0 0 6 0 2.36 83971 chr5 79441930 79441930 G A rs116691179 SERINC5 Synonymous SNV T407T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.57 83972 chr5 89706102 89706102 C - rs200230836 LOC731157 0 0 0.048 0 0 0 0 14 0 0 0 0 83973 chr5 89949651 89949651 A G rs61740119 ADGRV1 Synonymous SNV E1420E 0.003 0.008 0.014 3 4 3 0.008 4 0 0 0 0 Benign/Likely benign 2.152 83974 chr5 89981611 89981611 C T rs16868974 ADGRV1 Nonsynonymous SNV R2097C 0.009 0.013 0.024 7 10 5 0.018 7 0 0 0 0 Benign 34 83975 chr5 90111458 90111458 C T ADGRV1 Synonymous SNV I5367I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 83976 chr5 9054213 9054213 G A rs140400463 SEMA5A Nonsynonymous SNV T892M 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 24.8 83977 chr5 9066638 9066638 T C rs932619445 SEMA5A Nonsynonymous SNV T732A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 83978 chr6 10415001 10415001 T C rs654340 TFAP2A-AS1 0 0 0.082 0 0 0 0 24 0 0 4 0 10.33 83979 chr6 10430171 10430171 T C rs303061 LINC00518 0 0 0.235 0 0 0 0 69 0 0 9 0 2.692 83980 chr6 107391807 107391807 G A rs61734159 BEND3 Synonymous SNV I196I 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 5.637 83981 chr6 109770000 109770000 C T rs142979809 MICAL1 Synonymous SNV L447L 0 0 0.01 0 0 0 0 3 0 0 0 0 8.928 83982 chr6 111901465 111901465 G T rs146226365 TRAF3IP2 Nonsynonymous SNV S319R 0.002 0.013 0.014 0 2 5 0 4 0 0 0 0 Benign 23.6 83983 chr6 117248201 117248201 C A RFX6 Nonsynonymous SNV L633I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 83984 chr6 117708999 117708999 G A rs34203286 ROS1 Nonsynonymous SNV S653F 0.005 0.01 0.01 4 6 4 0.01 3 0 0 0 0 Likely benign 28.6 83985 chr6 125232945 125232945 C T rs867749583 RNF217-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.335 83986 chr6 131540874 131540874 G T rs140783900 AKAP7 Nonsynonymous SNV R259L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 83987 chr6 132910707 132910707 G T rs144579755 TAAR5 Nonsynonymous SNV A40D 0.006 0.01 0.003 5 7 4 0.013 1 0 0 0 0 18.85 83988 chr6 134158800 134158800 T C rs1208285 LINC01312 0 0 0.303 0 0 0 0 89 0 0 10 0 2.695 83989 chr6 134349874 134349874 G A rs149271240 SLC2A12 Synonymous SNV I363I 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 11.82 83990 chr6 137322878 137322878 C A rs75409075 IL20RA Synonymous SNV S382S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 83991 chr6 139017873 139017873 - T rs5880395 FLJ46906 0 0 0.241 0 0 0 0 71 0 0 14 0 83992 chr6 143832707 143832707 - GCAGCA rs750441314 FUCA2 L21_P22insLL 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 83993 chr6 144878336 144878336 C T rs766462288 UTRN Nonsynonymous SNV A2393V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 83994 chr6 146268741 146268741 A C rs199537644 SHPRH Nonsynonymous SNV L367R 0.003 0.01 0.003 6 3 4 0.015 1 0 0 0 0 11.38 83995 chr6 152771967 152771967 A G rs141464488 SYNE1 Nonsynonymous SNV V1070A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.5 83996 chr6 155577787 155577787 C T rs774390052 TIAM2 Synonymous SNV P471P 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 3.193 83997 chr6 159621087 159621087 C T rs62432291 FNDC1 Nonsynonymous SNV P122S 0.035 0.039 0.024 20 41 15 0.051 7 2 0 0 1 24.2 83998 chr6 20109956 20109956 A G rs45596536 MBOAT1 Nonsynonymous SNV F412L 0.015 0.01 0.017 8 18 4 0.021 5 0 0 0 1 34 83999 chr6 22570346 22570346 - GGC rs536582109 HDGFL1 A188_T189insA 0.012 0.023 0.048 5 14 9 0.013 14 2 0 0 0 84000 chr6 25492219 25492219 T G rs760218120 CARMIL1 Nonsynonymous SNV V396G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 84001 chr6 26108198 26108198 G A rs199870319 HIST1H1T Nonsynonymous SNV L42F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 84002 chr6 26271232 26271232 G C rs137982429 H3C8 Synonymous SNV L127L 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 10.55 84003 chr6 27293049 27293049 C G rs17739298 VN1R10P 0 0 0.194 0 0 0 0 57 0 0 10 0 1.413 84004 chr6 27730443 27730443 G A rs781771956 LOC100131289 0 0 0.003 0 0 0 0 1 0 0 0 0 7.161 84005 chr6 28186554 28186554 C A rs1736894 TOB2P1 0 0 0.184 0 0 0 0 54 0 0 4 0 10.69 84006 chr6 34826967 34826967 A T rs370762764 UHRF1BP1 Nonsynonymous SNV Q945L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.368 84007 chr6 35260720 35260720 G A rs34771695 ZNF76 Nonsynonymous SNV V410M 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 21.7 84008 chr6 36641785 36641785 C T rs1010424 PANDAR 0 0 0.136 0 0 0 0 40 0 0 4 0 11.96 84009 chr6 36641791 36641791 G C rs1010423 PANDAR 0 0 0.136 0 0 0 0 40 0 0 4 0 8.771 84010 chr6 36642260 36642260 C T rs4714003 PANDAR 0 0 0.15 0 0 0 0 44 0 0 4 0 7.566 84011 chr6 36642402 36642402 C T rs10947622 PANDAR 0 0 0.15 0 0 0 0 44 0 0 4 0 9.984 84012 chr6 36642551 36642551 A G rs12214686 PANDAR 0 0 0.156 0 0 0 0 46 0 0 4 0 2.971 84013 chr6 36642836 36642836 G A rs10947623 PANDAR 0 0 0.099 0 0 0 0 29 0 0 4 0 6.434 84014 chr6 43488016 43488016 A G rs771262971 POLR1C Nonsynonymous SNV Y169C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 84015 chr6 46993635 46993635 A G rs200437878 ADGRF1 Nonsynonymous SNV W78R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 84016 chr6 51612999 51612999 C A rs45503297 PKHD1 Nonsynonymous SNV D3139Y 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.87 84017 chr6 56394501 56394501 C T rs200304225 DST Synonymous SNV K3157K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 84018 chr6 64419100 64419100 G T PHF3 Nonsynonymous SNV W1167C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 84019 chr6 65655751 65655751 G A rs914387501 EYS Synonymous SNV S772S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.903 84020 chr6 7231500 7231500 C T rs137943791 RREB1 Synonymous SNV P1056P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 12.88 84021 chr6 85446768 85446768 T C rs145473026 TBX18 Nonsynonymous SNV M487V 0 0 0.003 0 0 0 0 1 0 0 0 0 21 84022 chr6 87725442 87725442 C T rs41273269 HTR1E Synonymous SNV Y130Y 0.016 0.018 0.024 8 19 7 0.021 7 0 0 0 1 6.938 84023 chr6 89926955 89926955 G A rs151091230 GABRR1 Synonymous SNV P29P 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 9.615 84024 chr6 90377802 90377802 A G rs148084650 MDN1 Synonymous SNV Y4675Y 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 8.297 84025 chr6 90486354 90486354 C T rs138147437 MDN1 Nonsynonymous SNV V596I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.07 84026 chr6 96999722 96999722 A C rs148972525 UFL1 Nonsynonymous SNV E636D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.24 84027 chr7 100550561 100550561 - GAT rs375778088 MUC3A T381_T382insM 0.004 0 0.003 0 5 0 0 1 0 0 0 0 84028 chr7 100550576 100550576 A C MUC3A Nonsynonymous SNV N386T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.886 84029 chr7 100550581 100550581 G A MUC3A Nonsynonymous SNV V388I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.766 84030 chr7 100550593 100550593 A C MUC3A Nonsynonymous SNV T392P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 84031 chr7 100550598 100550598 G T rs996425856 MUC3A Nonsynonymous SNV E393D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.288 84032 chr7 100550600 100550600 T C rs796949757 MUC3A Nonsynonymous SNV I394T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.049 84033 chr7 100550609 100550609 A T MUC3A Nonsynonymous SNV H397L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.53 84034 chr7 100550610 100550610 C T rs879069614 MUC3A Synonymous SNV H397H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.218 84035 chr7 100675451 100675451 C T rs368840848 MUC17 Stop gain Q252X 0 0 0.003 0 0 0 0 1 0 0 0 0 23 84036 chr7 100816737 100816737 A G rs746429184 NAT16 Nonsynonymous SNV V126A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.1 84037 chr7 120704306 120704306 A G rs79296869 CPED1 Synonymous SNV P185P 0.017 0.023 0.014 6 20 9 0.015 4 0 0 0 0 7.103 84038 chr7 127721445 127721445 G C SND1 Nonsynonymous SNV E668Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 84039 chr7 130027749 130027749 G A rs782338563 CPA1 Nonsynonymous SNV R386H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 84040 chr7 139477417 139477417 G A rs548734631 HIPK2 Synonymous SNV A2A 0.003 0 0.01 0 4 0 0 3 0 0 0 0 5.721 84041 chr7 139661721 139661721 C T rs761419784 TBXAS1 Nonsynonymous SNV R214W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 84042 chr7 148702451 148702451 C T rs142057859 PDIA4 Nonsynonymous SNV R436Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 84043 chr7 151504695 151504695 C T rs75074902 LOC644090 Nonsynonymous SNV P127S 0 0 0.034 0 0 0 0 10 0 0 0 0 7.261 84044 chr7 21598585 21598585 A T rs147525173 DNAH11 Nonsynonymous SNV M221L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.208 84045 chr7 21784649 21784649 C T rs62445328 DNAH11 Synonymous SNV H2826H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.83 84046 chr7 21934391 21934391 A G rs147608492 DNAH11 Nonsynonymous SNV I4301V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 84047 chr7 23625689 23625689 A G rs61729404 CLK2P1 0 0 0.116 0 0 0 0 34 0 0 3 0 9.412 84048 chr7 29690658 29690658 A C rs1728537 LOC646762 0 0 0.187 0 0 0 0 55 0 0 13 0 0.116 84049 chr7 29690705 29690705 C A rs1641211 LOC646762 0 0 0.289 0 0 0 0 85 0 0 28 0 7.447 84050 chr7 29994887 29994887 G A rs369984089 SCRN1 Synonymous SNV A15A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 84051 chr7 35414652 35414652 G A rs75360344 LOC401324 0 0 0.068 0 0 0 0 20 0 0 0 0 21.4 84052 chr7 36661365 36661365 G A rs200865415 AOAH Nonsynonymous SNV R170W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 84053 chr7 4002375 4002375 G A rs139796765 SDK1 Nonsynonymous SNV G441R 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 24.3 84054 chr7 40039041 40039041 C T rs142726395 CDK13 Synonymous SNV I708I 0.009 0 0.003 0 10 0 0 1 0 0 0 0 Benign 19.28 84055 chr7 44612522 44612522 T C rs772570826 DDX56 Nonsynonymous SNV N117S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 84056 chr7 48450185 48450185 C G rs77147473 ABCA13 Nonsynonymous SNV L4047V 0.015 0.005 0.007 3 18 2 0.008 2 0 0 0 0 25.2 84057 chr7 6194230 6194230 C T rs199684634 USP42 Synonymous SNV G1015G 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 8.67 84058 chr7 65552715 65552715 G A ASL 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 84059 chr7 6639797 6639797 C T rs373465701 C7orf26 Synonymous SNV T306T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 84060 chr7 82595377 82595377 G A rs749528846 PCLO Nonsynonymous SNV P1243S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 84061 chr7 89874762 89874762 G T rs149099697 CFAP69 Synonymous SNV A8A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.605 84062 chr7 89984515 89984515 A C rs112502888 GTPBP10 Synonymous SNV L145L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.63 84063 chr7 90042338 90042338 G A rs34378679 CLDN12 Synonymous SNV S116S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.835 84064 chr7 90233553 90233553 C G rs17866277 CDK14 Nonsynonymous SNV T38S 0 0 0.003 0 0 0 0 1 0 0 0 0 12 84065 chr7 90741881 90741881 G A rs114347546 CDK14 Synonymous SNV E264E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.929 84066 chr7 90894637 90894637 C T rs750709517 FZD1 Synonymous SNV L148L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 84067 chr7 91631558 91631558 A - AKAP9 E776Gfs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 84068 chr7 99704892 99704892 C T rs146348021 TAF6 Nonsynonymous SNV G708S 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 Likely benign 11.8 84069 chr7 99725365 99725365 A G MBLAC1 Nonsynonymous SNV H116R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 84070 chr8 102589731 102589731 G A rs200745936 GRHL2 Synonymous SNV Q313Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.166 84071 chr8 110131552 110131552 C T rs35948886 TRHR Synonymous SNV S355S 0.031 0.031 0.051 13 36 12 0.033 15 1 0 0 0 12.51 84072 chr8 120977583 120977583 G C rs766410544 DEPTOR Nonsynonymous SNV E78D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 84073 chr8 124975630 124975630 A G FER1L6 Synonymous SNV P63P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.425 84074 chr8 125022905 125022905 C T rs151336286 FER1L6 Nonsynonymous SNV T591I 0.005 0.01 0.014 1 6 4 0.003 4 0 0 0 0 17.24 84075 chr8 125463937 125463937 G C rs148858836 TRMT12 Nonsynonymous SNV G257R 0.003 0.008 0.007 5 4 3 0.013 2 0 0 0 0 12.38 84076 chr8 133923652 133923652 C A TG Nonsynonymous SNV P1345T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 84077 chr8 134145791 134145791 C T rs775377530 TG Nonsynonymous SNV A2692V 0 0 0.01 0 0 0 0 3 0 0 0 0 7.918 84078 chr8 142266711 142266711 A G rs140115922 LOC105375787 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.001 84079 chr8 143746977 143746977 C T rs782366281 JRK Synonymous SNV A167A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.93 84080 chr8 143762785 143762785 C A rs781929366 PSCA Nonsynonymous SNV S22R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 84081 chr10 100021911 100021911 C T rs139735732 LOXL4 Nonsynonymous SNV G113R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.334 84082 chr10 100150807 100150807 G A rs145679908 PYROXD2 Synonymous SNV I365I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 84083 chr10 105164872 105164872 G A PDCD11 Nonsynonymous SNV V166I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.322 84084 chr10 105166468 105166468 C T rs61731093 PDCD11 Nonsynonymous SNV T264M 0.006 0.01 0.007 6 7 4 0.015 2 0 0 0 1 22.9 84085 chr10 1065458 1065458 C T rs17851563 IDI2 Synonymous SNV X228X 0.009 0.01 0.017 1 10 4 0.003 5 0 0 0 0 9.054 84086 chr10 115337833 115337833 C T rs142936446 HABP2 Nonsynonymous SNV S140F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 5.351 84087 chr10 115610178 115610178 A G DCLRE1A Nonsynonymous SNV L229S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.744 84088 chr10 115933905 115933905 C T rs17091403 MIR2110 0 0 0.048 0 0 0 0 14 0 0 0 0 11.32 84089 chr10 116060005 116060005 G C rs144048981 AFAP1L2 Synonymous SNV T552T 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 4.007 84090 chr10 12043768 12043768 C G rs118004016 UPF2 Nonsynonymous SNV E521Q 0.003 0.005 0.01 3 3 2 0.008 3 0 0 0 0 Likely benign 20.3 84091 chr10 13251237 13251237 G A rs199611330 MCM10 Nonsynonymous SNV G851D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 84092 chr10 135195005 135195005 C T rs150446594 PAOX Nonsynonymous SNV P237L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 84093 chr10 15255412 15255412 A G rs61731094 FAM171A1 Synonymous SNV I725I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.334 84094 chr10 1568932 1568933 CC - rs376883578 ADARB2-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 84095 chr10 23728470 23728470 C T rs147006133 OTUD1 Synonymous SNV A28A 0.019 0.008 0.01 13 22 3 0.033 3 2 0 0 1 15.17 84096 chr10 25465161 25465161 A G rs139528705 GPR158 Nonsynonymous SNV E271G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 84097 chr10 27381397 27381397 C T rs41279942 ANKRD26 Synonymous SNV Q192Q 0.011 0.005 0.014 4 13 2 0.01 4 0 0 0 0 Benign 2.449 84098 chr10 28578229 28578229 - A rs11436116 MIR8086 0 0 0.109 0 0 0 0 32 0 0 3 0 84099 chr10 33113448 33113448 A G rs35739764 CCDC7 Nonsynonymous SNV T1062A 0.014 0.016 0.007 17 16 6 0.044 2 0 0 0 0 14.73 84100 chr10 33217098 33217098 G A rs35057436 ITGB1 Synonymous SNV D157D 0.014 0.016 0.007 17 16 6 0.044 2 0 0 0 0 6.053 84101 chr10 373039 373039 C T rs141877361 DIP2C Synonymous SNV Q1277Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.69 84102 chr10 48429063 48429063 C T rs782805283 GDF10 Nonsynonymous SNV E275K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 84103 chr10 50339693 50339693 C T FAM170B Nonsynonymous SNV E273K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 84104 chr10 50534149 50534149 C T rs535959830 C10orf71 Synonymous SNV L1187L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.52 84105 chr10 5781802 5781802 C A rs41310221 TASOR2 Nonsynonymous SNV L476I 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 12.86 84106 chr10 60027290 60027290 T C rs145519212 IPMK Nonsynonymous SNV T28A 0 0 0.014 0 0 0 0 4 0 0 0 0 0.003 84107 chr10 6392311 6392311 G A rs113210238 LINC02656 0 0 0.007 0 0 0 0 2 0 0 0 0 15.64 84108 chr10 70051910 70051924 CAAGTCCAGGACGAT - PBLD I119_L123del 0 0 0.003 0 0 0 0 1 0 0 0 0 84109 chr10 85910506 85910506 C T rs200385037 GHITM Nonsynonymous SNV L275F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 84110 chr10 85992509 85992509 G A rs764535599 LRIT1 Nonsynonymous SNV P349L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 84111 chr10 90428385 90428385 G A rs140420172 LIPF Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 84112 chr10 91511198 91511198 A C rs139452485 KIF20B Nonsynonymous SNV K1398Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.5 84113 chr10 95147609 95147609 G A rs117595198 MYOF Nonsynonymous SNV T535I 0.018 0.029 0.02 6 21 11 0.015 6 0 0 0 0 20.3 84114 chr10 98312793 98312793 G A TM9SF3 Synonymous SNV N228N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.918 84115 chr11 104879658 104879658 T A rs45483102 CASP5 Nonsynonymous SNV K32N 0.011 0.031 0.027 6 13 12 0.015 8 0 0 0 0 6.991 84116 chr11 111953203 111953203 A G rs201701818 NKAPD1 Nonsynonymous SNV D130G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 84117 chr11 113076264 113076264 T C rs191287596 NCAM1 Synonymous SNV N122N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.054 84118 chr11 113235612 113235612 C T rs770456534 TTC12 Synonymous SNV N599N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 84119 chr11 117265647 117265647 C G rs117473319 CEP164 Synonymous SNV L927L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 12.09 84120 chr11 117691393 117691393 C T rs144519777 FXYD2, FXYD6-FXYD2 Synonymous SNV E65E 0.012 0.008 0.031 6 14 3 0.015 9 0 0 0 0 Benign/Likely benign 8.135 84121 chr11 117859109 117859109 C T rs755758777 IL10RA Nonsynonymous SNV P27L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 84122 chr11 11804757 11804757 C T rs138552125 MIR8070 0 0 0.054 0 0 0 0 16 0 0 0 0 5.411 84123 chr11 118851300 118851300 A C FOXR1 Nonsynonymous SNV M238L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84124 chr11 119103205 119103205 A G rs863224399 CBL Synonymous SNV P81P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.84 84125 chr11 120292551 120292551 G A rs767889107 ARHGEF12 Nonsynonymous SNV R94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 84126 chr11 12316100 12316100 C G MICALCL Synonymous SNV L374L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 84127 chr11 124509637 124509637 C - rs751583167 SIAE D365Ifs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 84128 chr11 129873028 129873028 C T rs12805829 LINC00167 0 0 0.085 0 0 0 0 25 0 0 2 0 14.03 84129 chr11 1605904 1605904 - CCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCCCTTGGAG KRTAP5-1 S199_G200insCGGCKGGCGSCGGSKGGCGS 0.009 0.005 0.061 2 11 2 0.005 18 5 1 8 1 84130 chr11 19256330 19256330 T C rs541607823 E2F8 Nonsynonymous SNV M243V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.053 84131 chr11 2683361 2683361 C G rs199948521 KCNQ1OT1 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.021 84132 chr11 33098273 33098273 - T rs34119259 LINC00294 0 0 0.014 0 0 0 0 4 0 0 1 0 84133 chr11 33564237 33564237 G A rs536339527 KIAA1549L Nonsynonymous SNV M376I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.534 84134 chr11 397443 397443 C T rs753218470 PKP3 Synonymous SNV S314S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.675 84135 chr11 43284682 43284682 G A rs12276669 HNRNPKP3 0 0 0.017 0 0 0 0 5 0 0 0 0 2.452 84136 chr11 5173538 5173538 C T rs144329408 OR52A1 Nonsynonymous SNV G21D 0 0 0.01 0 0 0 0 3 0 0 0 0 29.9 84137 chr11 56310092 56310092 C T rs372580836 OR5M11 Synonymous SNV L214L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.039 84138 chr11 575410 575410 - C rs112464486 LOC143666 0 0 0.058 0 0 0 0 17 0 0 1 0 84139 chr11 5862416 5862416 C T rs61735020 OR52E6 Nonsynonymous SNV A238T 0.027 0.023 0.034 10 32 9 0.026 10 1 0 0 0 23.5 84140 chr11 58940192 58940192 G A rs200185979 DTX4 Nonsynonymous SNV G42S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 24.7 84141 chr11 59211341 59211341 G A OR5A1 Nonsynonymous SNV A234T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.09 84142 chr11 59283025 59283025 C A OR4D9 Nonsynonymous SNV L214I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 84143 chr11 59575227 59575227 G A rs771153577 MRPL16 Nonsynonymous SNV R73W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 84144 chr11 61582708 61582708 T C rs174561 MIR1908 0 0 0.211 0 0 0 0 62 0 0 6 0 7.928 84145 chr11 61912545 61912545 G A rs778464804 INCENP Nonsynonymous SNV R562Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 84146 chr11 62297814 62297814 T G rs140308455 AHNAK Nonsynonymous SNV I1359L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 3.188 84147 chr11 62299839 62299839 C T rs763485398 AHNAK Nonsynonymous SNV D684N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.391 84148 chr11 64216865 64216865 C G LINC02724 0 0 0.003 0 0 0 0 1 0 0 0 0 6.393 84149 chr11 65211735 65211740 TGTGTG - NEAT1 0 0 0.024 0 0 0 0 7 0 0 3 0 84150 chr11 65547235 65547235 C G rs200735525 AP5B1 Synonymous SNV P243P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 84151 chr11 6579777 6579777 A C rs142389357 DNHD1 Nonsynonymous SNV H3022P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 84152 chr11 66281940 66281940 C T BBS1 Synonymous SNV L75L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.315 84153 chr11 67219647 67219647 C G rs750390771 GPR152 Synonymous SNV L183L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.775 84154 chr11 70007798 70007798 T C rs35916165 ANO1 Synonymous SNV N617N 0.011 0.018 0.007 5 13 7 0.013 2 0 0 0 0 Benign 4.761 84155 chr11 70333498 70333498 T C rs62622853 SHANK2 Nonsynonymous SNV Y379C 0.022 0.016 0.048 7 26 6 0.018 14 0 0 0 0 Likely benign 22.2 84156 chr11 71810236 71810236 C T rs144101476 LAMTOR1 Nonsynonymous SNV E37K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 84157 chr11 72421498 72421498 G A rs757646454 ARAP1 Nonsynonymous SNV R205C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 84158 chr11 77749801 77749801 C A rs962449974 NDUFC2-KCTD14 Nonsynonymous SNV G57V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.343 84159 chr11 77823714 77823714 T C ALG8 Nonsynonymous SNV K294E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.9 84160 chr11 82642952 82642952 G A rs143776868 DDIAS Nonsynonymous SNV R191K 0.003 0.003 0.01 3 3 1 0.008 3 0 0 0 0 0.861 84161 chr11 82645063 82645063 C T rs144839914 DDIAS Nonsynonymous SNV P895S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 84162 chr11 93465277 93465277 T - rs781166925 SNORA1 0 0 0.003 0 0 0 0 1 0 0 0 0 84163 chr11 94277899 94277899 G A rs759396940 FUT4 Synonymous SNV G200G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.746 84164 chr12 100482717 100482717 C T rs202187681 UHRF1BP1L Nonsynonymous SNV D333N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 84165 chr12 100562816 100562816 C T rs538109080 GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 2.299 84166 chr12 100660759 100660759 T C rs138623297 DEPDC4 Synonymous SNV P32P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 1.264 84167 chr12 101702045 101702045 G A rs77005911 UTP20 Nonsynonymous SNV R693K 0.009 0.018 0.014 5 11 7 0.013 4 0 0 0 0 31 84168 chr12 102158070 102158070 C T rs141529327 GNPTAB Synonymous SNV V875V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.641 84169 chr12 106460763 106460763 G A rs149780357 NUAK1 Synonymous SNV C601C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 84170 chr12 109949083 109949083 T C rs376232986 UBE3B Nonsynonymous SNV I644T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 84171 chr12 113645430 113645430 T C rs778372069 IQCD Nonsynonymous SNV Q181R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.7 84172 chr12 114380215 114380215 G A rs116927430 RBM19 Nonsynonymous SNV R551C 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 29.7 84173 chr12 117465930 117465930 A T rs144038917 FBXW8 Nonsynonymous SNV T518S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 6.988 84174 chr12 120750729 120750729 A C rs201161049 SIRT4 Nonsynonymous SNV K279Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 84175 chr12 122079287 122079287 C T rs782647571 ORAI1 Nonsynonymous SNV P217L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 84176 chr12 122693102 122693102 G A rs149387774 DIABLO Synonymous SNV T85T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 14.64 84177 chr12 123474487 123474487 C T rs563437854 PITPNM2 Nonsynonymous SNV D860N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.02 84178 chr12 124111634 124111634 G A rs370678173 EIF2B1 Stop gain R147X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 84179 chr12 124399005 124399005 G A rs11057392 DNAH10 Synonymous SNV R3376R 0.012 0.008 0.027 7 14 3 0.018 8 0 0 0 0 1.207 84180 chr12 13154105 13154105 A T rs9919709 HTR7P1 0 0 0.31 0 0 0 0 91 0 0 30 0 8.38 84181 chr12 132549300 132549300 A G rs7136109 EP400 Nonsynonymous SNV T2808A 0.005 0.008 0.017 5 6 3 0.013 5 0 0 1 0 0.005 84182 chr12 14578354 14578354 C T rs111490805 ATF7IP Nonsynonymous SNV S502L 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 Likely benign 25.2 84183 chr12 16410635 16410635 G A SLC15A5 Nonsynonymous SNV R252C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 84184 chr12 25242588 25242588 G A rs368811607 LRMP Synonymous SNV S138S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 84185 chr12 31605270 31605270 T C rs34234771 DENND5B Synonymous SNV L234L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.446 84186 chr12 41966699 41966699 A G rs78683283 PDZRN4 Synonymous SNV G448G 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 0.248 84187 chr12 51399201 51399201 G A rs766877418 SLC11A2 Nonsynonymous SNV R64C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 84188 chr12 52215875 52215875 A G rs201565575 FIGNL2 Nonsynonymous SNV L108S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 12.36 84189 chr12 527783 527783 A G rs761272542 CCDC77 Nonsynonymous SNV N100D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 84190 chr12 52824351 52824351 C T rs2232398 KRT75 Nonsynonymous SNV E337K 0.002 0.008 0.01 2 2 3 0.005 3 0 0 0 0 34 84191 chr12 54423459 54423459 C T rs138685629 HOXC6 Nonsynonymous SNV R141W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 84192 chr12 56122084 56122084 G C rs3138131 CD63 Synonymous SNV L14L 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 9.929 84193 chr12 56415348 56415348 G A rs75600413 IKZF4 Nonsynonymous SNV R24Q 0.003 0.005 0.014 1 3 2 0.003 4 0 0 1 0 17.92 84194 chr12 56493677 56493677 A G rs56259600 ERBB3 Nonsynonymous SNV K998R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.344 84195 chr12 56531012 56531012 T G rs138187966 ESYT1 Nonsynonymous SNV L608W 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 84196 chr12 56717594 56717594 G A rs144721765 PAN2 Synonymous SNV P727P 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 Benign 7.431 84197 chr12 6666649 6666649 A G rs200739797 NOP2 Nonsynonymous SNV L646P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.08 84198 chr12 6993889 6993889 C T rs11064444 DSTNP2 0 0 0.024 0 0 0 0 7 0 0 3 0 7.358 84199 chr12 88519120 88519120 A C rs201988582 CEP290 Nonsynonymous SNV I364M 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 84200 chr12 90013990 90013990 G A rs768262746 ATP2B1 Nonsynonymous SNV R352C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 84201 chr12 9016484 9016484 T C A2ML1 Synonymous SNV Y708Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.3 84202 chr12 9262533 9262533 G A A2M Synonymous SNV G51G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 84203 chr12 94805561 94805561 G A rs928177600 CEP83 Nonsynonymous SNV T79I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 84204 chr12 95228286 95228286 G C rs2289030 KRT19P2, MIR492 0 0 0.065 0 0 0 0 19 0 0 0 0 1.348 84205 chr12 96704922 96704922 T G CDK17 Nonsynonymous SNV I151L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 84206 chr13 100235125 100235125 C A rs9517788 LINC01039 0 0 0.01 0 0 0 0 3 0 0 1 0 4.94 84207 chr13 103392621 103392621 G A rs556876178 CCDC168 Nonsynonymous SNV P3476S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.948 84208 chr13 103514459 103514459 C T rs4150314 BIVM-ERCC5, ERCC5 Synonymous SNV D320D 0.02 0.013 0.02 4 24 5 0.01 6 1 0 0 0 Benign/Likely benign 10.13 84209 chr13 103520565 103520565 A G rs4150342 BIVM-ERCC5, ERCC5 Nonsynonymous SNV N879S 0.02 0.013 0.02 4 24 5 0.01 6 1 0 0 0 Benign 26.2 84210 chr13 110822944 110822944 G A rs140702632 COL4A1 Nonsynonymous SNV T1231M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 84211 chr13 110835389 110835389 G A rs749164494 COL4A1 Synonymous SNV G682G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.515 84212 chr13 111521838 111521838 A G rs77449122 LINC00346 0 0 0.01 0 0 0 0 3 0 0 0 0 0.143 84213 chr13 115004897 115004897 G C rs771164006 CDC16 Nonsynonymous SNV E11Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 84214 chr13 23908564 23908564 C T SACS Nonsynonymous SNV E3004K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.2 84215 chr13 24798506 24798506 C T rs41314440 SPATA13 Nonsynonymous SNV P480L 0.01 0.01 0.01 6 12 4 0.015 3 0 0 0 0 25 84216 chr13 25479713 25479713 C T rs751317566 CENPJ Synonymous SNV T821T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.905 84217 chr13 26793628 26793628 C T rs61753154 RNF6 Synonymous SNV R53R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 12.47 84218 chr13 28897068 28897068 T C rs35549791 FLT1 Nonsynonymous SNV M938V 0.01 0 0.01 4 12 0 0.01 3 0 0 0 0 Likely benign 0.001 84219 chr13 29599046 29599046 C T rs767689212 MTUS2 Nonsynonymous SNV R71C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 84220 chr13 36942461 36942461 A G rs151251154 SPART-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 5.757 84221 chr13 50062751 50062751 C T rs146670295 SETDB2 Synonymous SNV V634V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.52 84222 chr13 52390972 52390972 C G TMEM272 Nonsynonymous SNV S94T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.538 84223 chr13 73293132 73293132 T A rs1046588 MZT1 Synonymous SNV S61S 0.005 0.01 0.01 4 6 4 0.01 3 0 0 0 0 11.29 84224 chr13 76447859 76447859 G A rs117547772 LMO7DN 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 16.44 84225 chr13 86369965 86369965 A G rs779194087 SLITRK6 Synonymous SNV L227L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 84226 chr13 95673926 95673926 T C ABCC4 Nonsynonymous SNV K1247R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84227 chr14 101200825 101200825 C T rs117014694 DLK1 Synonymous SNV R248R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12 84228 chr14 103587316 103587316 G A rs10130294 LINC00677 0 0 0.061 0 0 0 0 18 0 0 2 0 3.984 84229 chr14 104638925 104638925 C T rs200554843 KIF26A Nonsynonymous SNV S447L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 84230 chr14 104642509 104642509 G A KIF26A Synonymous SNV T1128T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.966 84231 chr14 105517871 105517871 G A rs201723984 GPR132 Synonymous SNV Y13Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.12 84232 chr14 21074739 21074739 G T LOC254028 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 84233 chr14 21458454 21458454 G T rs146684916 METTL17 Nonsynonymous SNV R47S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.15 84234 chr14 33293472 33293472 T C rs142508778 AKAP6 Synonymous SNV D2151D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 84235 chr14 34269610 34269610 T G rs368102183 NPAS3 Synonymous SNV G669G 0.012 0.01 0.007 1 14 4 0.003 2 0 0 0 0 Benign 0.002 84236 chr14 36207803 36207803 G A rs767161152 RALGAPA1 Synonymous SNV N501N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.52 84237 chr14 36987159 36987159 C G rs201057772 NKX2-1 Nonsynonymous SNV G147A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 84238 chr14 45658449 45658449 A G rs143662421 FANCM Nonsynonymous SNV I1716V 0.016 0.026 0.017 11 19 10 0.028 5 1 0 1 0 Benign/Likely benign 0.001 84239 chr14 45711340 45711340 G C rs34168608 MIS18BP1 Nonsynonymous SNV P347R 0.016 0.026 0.02 10 19 10 0.026 6 1 0 1 0 25.8 84240 chr14 57279993 57279993 G - rs33968082 OTX2-AS1 0 0 0.367 0 0 0 0 108 0 0 46 0 84241 chr14 63735862 63735862 C T rs10133216 RHOJ Synonymous SNV L71L 0.025 0.026 0.041 11 29 10 0.028 12 0 0 0 1 17.84 84242 chr14 64989813 64989813 G C rs45572033 ZBTB1 Nonsynonymous SNV A531P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 23.1 84243 chr14 68274324 68274324 C T rs147919567 ZFYVE26 Nonsynonymous SNV R226H 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.54 84244 chr14 75538258 75538258 - G rs528262343 ZC2HC1C Frameshift insertion E329Gfs*8 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 84245 chr14 90754986 90754986 C T rs368961715 NRDE2 Nonsynonymous SNV M911I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.7 84246 chr14 94935659 94935659 C T rs36071443 SERPINA9 Synonymous SNV A93A 0.009 0.005 0.02 1 11 2 0.003 6 0 0 0 0 11.01 84247 chr15 100273589 100273589 T C rs562940378 LYSMD4 Synonymous SNV R20R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.496 84248 chr15 100273590 100273590 C G rs530698262 LYSMD4 Nonsynonymous SNV R20P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.77 84249 chr15 100273596 100273596 C T rs546106051 LYSMD4 Nonsynonymous SNV G18E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.102 84250 chr15 101099297 101099297 G A rs142506699 PRKXP1 0 0 0.031 0 0 0 0 9 0 0 0 0 0.455 84251 chr15 21936786 21936786 C A rs8026306 LOC646214 0 0 0.02 0 0 0 0 6 0 0 0 0 5.224 84252 chr15 21937747 21937747 - AGAACCTTA rs566187348 LOC646214 0 0 0.102 0 0 0 0 30 0 0 0 0 84253 chr15 25230402 25230402 T A rs1991274 PWAR5 0 0 0.075 0 0 0 0 22 0 0 0 0 7.29 84254 chr15 25230716 25230716 C A rs62001977 PWAR5 0 0 0.065 0 0 0 0 19 0 0 0 0 6.595 84255 chr15 25304777 25304777 G A rs2732022 SNHG14, SNORD116-4 0 0 0.071 0 0 0 0 21 0 0 0 0 12.01 84256 chr15 25427208 25427208 C A rs2714793 SNHG14 0 0 0.085 0 0 0 0 25 0 0 2 0 0.997 84257 chr15 25430654 25430654 G A rs72546347 SNHG14 0 0 0.041 0 0 0 0 12 0 0 1 0 5.165 84258 chr15 25434642 25434642 C T rs8179188 SNORD115-11, SNORD115-29, SNORD115-36, SNORD115-43 0 0 0.051 0 0 0 0 15 0 0 1 0 13.49 84259 chr15 25438493 25438493 A G rs7172888 SNHG14, SNORD115-13 0 0 0.112 0 0 0 0 33 0 0 4 0 1.064 84260 chr15 25457024 25457024 C T rs138733368 PWAR4, SNORD115-23 0 0 0.003 0 0 0 0 1 0 0 0 0 3.397 84261 chr15 25472176 25472176 C T rs1883006 SNHG14 0 0 0.031 0 0 0 0 9 0 0 0 0 1.397 84262 chr15 34647875 34647875 T G rs114366417 NUTM1 Nonsynonymous SNV S546A 0.014 0.003 0.007 1 17 1 0.003 2 0 0 0 0 13.76 84263 chr15 34647972 34647972 C T rs78773193 NUTM1 Nonsynonymous SNV P578L 0.014 0.003 0.007 1 17 1 0.003 2 0 0 0 0 19.25 84264 chr15 34659252 34659252 C G rs199696158 LPCAT4 Nonsynonymous SNV G17A 0.009 0 0.003 0 11 0 0 1 0 0 0 0 0.003 84265 chr15 40627777 40627777 G A rs113207463 CCDC9B Nonsynonymous SNV P396L 0.023 0.029 0.017 13 27 11 0.033 5 0 0 0 1 7.55 84266 chr15 40703542 40703542 G A rs775944806 IVD Synonymous SNV A150A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.89 84267 chr15 42104305 42104305 G A rs61729967 MAPKBP1 Nonsynonymous SNV V160I 0.005 0.008 0.017 5 6 3 0.013 5 0 0 0 0 Benign 21 84268 chr15 42139713 42139713 C T rs200877600 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV S709L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 84269 chr15 42145106 42145106 G A rs201792614 SPTBN5 Synonymous SNV G3421G 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 4.85 84270 chr15 42984572 42984572 G C STARD9 Nonsynonymous SNV C3599S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.314 84271 chr15 45437093 45437093 G C DUOX1 Nonsynonymous SNV V713L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 84272 chr15 45555421 45555421 G A rs115740452 SLC28A2 Nonsynonymous SNV R142H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.302 84273 chr15 48829955 48829955 C G rs1010242258 FBN1 Nonsynonymous SNV G197R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.3 84274 chr15 58984240 58984240 G T rs112656041 HSP90AB4P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.856 84275 chr15 60741548 60741548 C T rs763434700 ICE2 Nonsynonymous SNV E403K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.47 84276 chr15 62945400 62945400 C T rs140578416 TLN2 Nonsynonymous SNV T135I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 21.8 84277 chr15 65116210 65116210 G A rs191345285 PIF1 Nonsynonymous SNV P109S 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 26.3 84278 chr15 66777345 66777345 G A rs17586159 MAP2K1 Synonymous SNV G237G 0.008 0 0.017 2 9 0 0.005 5 0 0 0 0 Benign 11.09 84279 chr15 66995645 66995645 C A SMAD6 Nonsynonymous SNV R17S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 84280 chr15 68582065 68582065 C G rs201703543 FEM1B Synonymous SNV T123T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.546 84281 chr15 74337075 74337075 G A rs374210403 PML Nonsynonymous SNV R792Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.557 84282 chr15 74884116 74884116 G A rs143528758 ARID3B Nonsynonymous SNV A461T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 24.2 84283 chr15 75014049 75014049 G A rs34260157 CYP1A1 Nonsynonymous SNV R279W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 29.8 84284 chr15 75042295 75042295 C T rs373003324 CYP1A2 Synonymous SNV Y72Y 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.521 84285 chr15 75111098 75111098 C T rs140099489 LMAN1L Synonymous SNV D179D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.635 84286 chr15 75968662 75968662 G A rs112661884 CSPG4 Synonymous SNV T2066T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.329 84287 chr15 75969704 75969704 T C rs374104538 CSPG4 Nonsynonymous SNV Q1719R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 84288 chr15 76254311 76254311 C T rs74024031 NRG4 Nonsynonymous SNV V37I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.915 84289 chr15 79277150 79277150 - C rs3840034 LOC100129540 0 0 0.211 0 0 0 0 62 0 0 12 0 84290 chr15 79277780 79277780 C A rs28368520 LOC100129540 0 0 0.017 0 0 0 0 5 0 0 0 0 5.454 84291 chr15 79277796 79277796 G A rs551919084 LOC100129540 0 0 0.003 0 0 0 0 1 0 0 0 0 4.148 84292 chr15 80215601 80215601 C T rs17286886 ST20-AS1 0 0 0.143 0 0 0 0 42 0 0 3 0 16.26 84293 chr15 81225713 81225713 C T rs760392884 CEMIP Nonsynonymous SNV T974M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 84294 chr15 81575014 81575014 C T rs143808111 IL16 Synonymous SNV S372S 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 11.54 84295 chr15 82388044 82388044 C T rs74748383 LINC01583 0 0 0.031 0 0 0 0 9 0 0 0 0 0.077 84296 chr15 84611673 84611673 G A rs754061265 ADAMTSL3 Nonsynonymous SNV G777R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 84297 chr15 85461794 85461794 G A rs17215975 SLC28A1 Nonsynonymous SNV V279I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 84298 chr15 85664158 85664158 C T rs144501404 PDE8A Nonsynonymous SNV T576I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.007 84299 chr15 86687049 86687049 C T rs186767486 AGBL1 Nonsynonymous SNV R79W 0.009 0.008 0.017 1 10 3 0.003 5 0 0 0 0 26.9 84300 chr15 89173398 89173398 G A rs118097475 AEN Nonsynonymous SNV C284Y 0.011 0.008 0.007 3 13 3 0.008 2 0 0 0 0 0.018 84301 chr15 89838176 89838176 T G rs145762491 FANCI Synonymous SNV L829L 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 9.457 84302 chr15 90164769 90164769 T C rs75934760 TICRR Synonymous SNV P1099P 0.003 0.008 0.01 3 3 3 0.008 3 0 0 0 0 0.275 84303 chr15 90167312 90167312 C T rs138024656 TICRR Synonymous SNV F1256F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.516 84304 chr15 90174825 90174825 G A rs61741227 KIF7 Synonymous SNV R1004R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.9 84305 chr15 90185557 90185557 G A rs35451920 KIF7 Synonymous SNV A757A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.921 84306 chr15 90212810 90212810 C A rs114583540 PLIN1 Nonsynonymous SNV R231L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.06 84307 chr15 90272256 90272256 C T rs7178234 WDR93 Nonsynonymous SNV T352M 0.003 0 0.014 0 3 0 0 4 0 0 0 0 3.425 84308 chr15 90320000 90320000 G A rs28462216 MESP2 Nonsynonymous SNV V138M 0.003 0 0.02 0 4 0 0 6 0 0 1 0 Benign 19.79 84309 chr15 90320146 90320146 G A rs28546919 MESP2 Synonymous SNV Q186Q 0.003 0 0.017 0 4 0 0 5 0 0 1 0 Benign/Likely benign 0.514 84310 chr15 93007444 93007444 G A rs201615346 ST8SIA2 Synonymous SNV P298P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.555 84311 chr15 93339279 93339279 C G rs77582277 ASB9P1 0 0 0.051 0 0 0 0 15 0 0 0 0 4.918 84312 chr16 10788726 10788726 T C rs148973444 TEKT5 Nonsynonymous SNV E2G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.8 84313 chr16 11272287 11272287 G A rs72650688 CLEC16A Nonsynonymous SNV V968M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 84314 chr16 11944258 11944258 G A rs138791449 RSL1D1 Synonymous SNV D41D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.378 84315 chr16 1724016 1724016 C T rs139731219 CRAMP1 Synonymous SNV G1260G 0.014 0.01 0.003 1 16 4 0.003 1 0 0 0 0 11.03 84316 chr16 20935361 20935361 C T rs377569703 LYRM1 Nonsynonymous SNV R98W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 84317 chr16 2521844 2521897 GCCCTGGGCCGCGAGGTGCTGGCTTCCAGCACGTGCGGGCGGCCGGCCACTCGG - NTN3 L49_A66del 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 84318 chr16 27761116 27761116 G A rs764005020 KIAA0556 Synonymous SNV E945E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.897 84319 chr16 2813096 2813096 C G rs12185191 SRRM2 Nonsynonymous SNV T856R 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 Benign 0.07 84320 chr16 29982813 29982813 G A TMEM219 Nonsynonymous SNV A224T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 84321 chr16 30046763 30046763 A C rs77730873 TLCD3B Nonsynonymous SNV F98V 0.014 0.021 0.01 8 16 8 0.021 3 0 0 0 0 10.73 84322 chr16 30080978 30080978 G A ALDOA Synonymous SNV V261V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.184 84323 chr16 46731413 46731413 T C rs34343511 ORC6 Synonymous SNV D225D 0.019 0.026 0.027 10 22 10 0.026 8 0 0 0 0 Benign 0.034 84324 chr16 50347964 50347964 C T rs149953515 ADCY7 Synonymous SNV H949H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.76 84325 chr16 57095409 57095409 G A rs140644178 NLRC5 Nonsynonymous SNV G1317S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.032 84326 chr16 57484957 57484957 C G rs140264612 COQ9 Nonsynonymous SNV R27G 0.001 0.005 0.01 3 1 2 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 19.7 84327 chr16 57921843 57921843 G A rs11867123 CNGB1 Synonymous SNV G1120G 0.018 0.005 0.031 7 21 2 0.018 9 0 0 0 0 Uncertain significance 10.58 84328 chr16 59788649 59788649 T A rs78826389 APOOP5 0 0 0.068 0 0 0 0 20 0 0 2 0 13.61 84329 chr16 70295047 70295047 G A rs148355156 AARS Nonsynonymous SNV T562I 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Benign/Likely benign 23.1 84330 chr16 712780 712780 C T rs576866547 WDR90 Nonsynonymous SNV T1416M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.7 84331 chr16 71668551 71668551 G A rs368906441 MARVELD3 Nonsynonymous SNV G351S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.032 84332 chr16 71893981 71893981 C T rs17850869 ZNF821 Synonymous SNV L351L 0.005 0.013 0.014 3 6 5 0.008 4 0 0 0 0 7.986 84333 chr16 73161423 73161423 T A rs118053548 C16orf47 Nonsynonymous SNV Q78L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.087 84334 chr16 75269046 75269046 C T rs139270175 BCAR1 Nonsynonymous SNV R374Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 84335 chr16 75589801 75589801 C A rs757361739 TMEM231 Synonymous SNV V123V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.61 84336 chr16 81888179 81888179 G A rs189282309 PLCG2 Synonymous SNV T108T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.632 84337 chr16 84472892 84472892 T C rs200849669 ATP2C2 Synonymous SNV T218T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.013 84338 chr16 88871997 88871997 C A rs146872515 CDT1 Nonsynonymous SNV T213K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 84339 chr16 88932857 88932857 T C rs139390142 PABPN1L Nonsynonymous SNV E53G 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 0.392 84340 chr16 89348078 89348078 C T rs143426579 ANKRD11 Synonymous SNV A1624A 0.009 0.005 0.014 2 10 2 0.005 4 0 0 0 0 Benign/Likely benign 8.807 84341 chr16 89777123 89777123 C T rs148694296 VPS9D1 Nonsynonymous SNV D377N 0.005 0 0.024 0 6 0 0 7 0 0 0 0 26.6 84342 chr16 89784290 89784290 G A rs534300862 VPS9D1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 1.896 84343 chr17 10614311 10614311 C T rs146226049 ADPRM Synonymous SNV H293H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.476 84344 chr17 1552519 1552519 C T rs183827902 RILP Nonsynonymous SNV R135Q 0 0 0.01 0 0 0 0 3 0 0 0 0 12.01 84345 chr17 16342677 16342710 GGGACCCGGTTCCCCGGCCCACAGTGGGGGTGTG - SNHG29 0 0 0.003 0 0 0 0 1 0 0 0 0 84346 chr17 17250159 17250159 C T rs2240876 NT5M Synonymous SNV T195T 0.049 0.055 0.085 22 58 21 0.056 25 2 1 1 1 16.04 84347 chr17 17682266 17682266 - A rs774259143 SMCR5 0 0 0.003 0 0 0 0 1 0 0 0 0 84348 chr17 17722990 17722990 A C SREBF1 Synonymous SNV A167A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.91 84349 chr17 19216576 19216576 C T rs55883526 EPN2 Synonymous SNV D92D 0.016 0.013 0.017 2 19 5 0.005 5 1 0 0 0 7.853 84350 chr17 19437339 19437339 C T rs61733934 SLC47A1 Synonymous SNV S29S 0.02 0.016 0.041 2 24 6 0.005 12 0 0 1 0 16.49 84351 chr17 21092149 21092149 A T DHRS7B Nonsynonymous SNV I234F 0.004 0 0.003 0 5 0 0 1 0 0 0 0 1.292 84352 chr17 21318671 21318671 G A rs3752032 KCNJ12, KCNJ18 Nonsynonymous SNV R6Q 0.002 0 0.014 0 2 0 0 4 0 0 0 0 21.8 84353 chr17 2227521 2227521 G A rs376000588 TSR1 Nonsynonymous SNV S795F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.785 84354 chr17 27446423 27446423 G A rs200838366 MYO18A Nonsynonymous SNV R587W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 84355 chr17 29231142 29231142 G A rs558812361 TEFM Nonsynonymous SNV P146L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.419 84356 chr17 32908112 32908112 C A TMEM132E Stop gain S6X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 84357 chr17 3514047 3514047 G C rs141579629 SHPK Nonsynonymous SNV P415R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 84358 chr17 35981285 35981285 A G rs34337635 DDX52 Nonsynonymous SNV I463T 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 24.4 84359 chr17 37902384 37902384 C T rs757567583 GRB7 Stop gain Q461X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 84360 chr17 38183675 38183675 G A rs143630734 MED24 Synonymous SNV F484F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 84361 chr17 39616429 39616429 G A rs117083040 KRT32 Nonsynonymous SNV P427L 0.022 0.026 0.024 9 26 10 0.023 7 0 0 0 0 18.15 84362 chr17 40379585 40379585 G A rs146176992 STAT5B Synonymous SNV L83L 0.003 0.005 0.01 7 3 2 0.018 3 0 0 0 0 Benign 11.86 84363 chr17 40939472 40939472 C T rs55751736 WNK4 Synonymous SNV P215P 0.009 0.013 0.02 3 10 5 0.008 6 0 0 0 0 Benign 3.362 84364 chr17 42253726 42253727 AA - rs367925638 ASB16-AS1 0 0 0.092 0 0 0 0 27 0 0 9 0 84365 chr17 4435911 4435911 - GACCAGCTCGGG rs760450906 SPNS2 L296_K297insGDQL 0 0 0.003 0 0 0 0 1 0 0 0 0 84366 chr17 47246956 47246956 C T rs61743617 B4GALNT2 Nonsynonymous SNV R463W 0.006 0.016 0.017 2 7 6 0.005 5 0 0 0 0 Benign 25.7 84367 chr17 47302390 47302392 AGG - rs146708566 PHOSPHO1 S32del 0.014 0.018 0.02 4 16 7 0.01 6 0 0 1 0 84368 chr17 47584004 47584004 C T rs116077510 NGFR Synonymous SNV A184A 0.02 0.016 0.02 9 23 6 0.023 6 0 0 0 0 20.7 84369 chr17 48431021 48431021 G A rs113835371 XYLT2 Nonsynonymous SNV D56N 0.02 0.021 0.014 7 24 8 0.018 4 0 1 0 0 18.24 84370 chr17 56234727 56234727 T A rs72839961 MSX2P1 0 0 0.082 0 0 0 0 24 0 0 1 0 8.443 84371 chr17 56272415 56272415 C T rs200969873 EPX Stop gain Q229X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 38 84372 chr17 59485681 59485681 A G TBX2 Synonymous SNV G651G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 84373 chr17 60769494 60769494 C T MRC2 Nonsynonymous SNV P1405L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 84374 chr17 63221214 63221214 G A rs34797451 RGS9 Nonsynonymous SNV R498H 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 22.8 84375 chr17 67151207 67151207 C A rs72853603 ABCA10 Nonsynonymous SNV R1216I 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 23.8 84376 chr17 71196810 71196810 T C COG1 Synonymous SNV N392N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.373 84377 chr17 72363743 72363743 G A rs150825934 GPR142 Synonymous SNV E33E 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 0.313 84378 chr17 72469708 72469708 C T rs200229648 CD300A Nonsynonymous SNV A25V 0 0 0.007 0 0 0 0 2 0 0 0 0 10.04 84379 chr17 7259506 7259506 C T TMEM95 Nonsynonymous SNV S115F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 84380 chr17 73501970 73501970 G A rs763781713 CASKIN2 Nonsynonymous SNV T174M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 84381 chr17 73726436 73726436 G A rs150962076 ITGB4 Nonsynonymous SNV D285N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 84382 chr17 73915928 73915928 C T rs181895621 FBF1 Synonymous SNV S653S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.71 84383 chr17 74383509 74383509 G A rs116933256 SPHK1 Nonsynonymous SNV D333N 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 3.583 84384 chr17 76267810 76267810 G A rs188030833 LINC01993 0 0 0.003 0 0 0 0 1 0 0 0 0 5.544 84385 chr17 76400040 76400040 G A PGS1 Synonymous SNV V424V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.039 84386 chr17 76491998 76491998 G A rs61745171 DNAH17 Synonymous SNV A1954A 0 0 0.007 0 0 0 0 2 0 0 0 0 5.963 84387 chr17 76502928 76502928 G T rs114464365 DNAH17 Nonsynonymous SNV S1559R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.543 84388 chr17 76989782 76989782 G A rs3803781 CANT1 Synonymous SNV N352N 0.014 0.013 0.034 2 17 5 0.005 10 1 0 0 0 Likely benign 8.251 84389 chr17 7762859 7762859 C T rs142059605 CYB5D1 Nonsynonymous SNV L206F 0.004 0.008 0.01 2 5 3 0.005 3 0 0 1 0 24.2 84390 chr17 79495897 79495897 A G rs202158770 FSCN2 Nonsynonymous SNV T114A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 8.095 84391 chr18 2937699 2937699 T C rs104895501 LPIN2 Nonsynonymous SNV K387E 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign/Likely benign 22.8 84392 chr18 32887278 32887278 T - rs35599671 ZNF271P 0 0 0.054 0 0 0 0 16 0 0 0 0 84393 chr18 40853854 40853854 C T rs753692040 SYT4 Synonymous SNV L180L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 84394 chr18 44104692 44104692 G A LOXHD1 Synonymous SNV L366L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.75 84395 chr18 48256003 48256003 G A rs573296530 MAPK4 Nonsynonymous SNV E304K 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 19.96 84396 chr18 50976898 50976898 G A rs35891220 DCC Synonymous SNV P1086P 0.009 0.013 0.017 0 10 5 0 5 0 0 0 0 4.442 84397 chr18 63529977 63529977 T C CDH7 Nonsynonymous SNV F563S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 84398 chr18 6956505 6956510 CAGCTC - rs374998825 LOC101927188 0 0 0.037 0 0 0 0 11 0 0 0 0 84399 chr18 7026104 7026104 G A rs759093705 LAMA1 Nonsynonymous SNV A759V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.059 84400 chr18 72264387 72264387 T G rs12961522 LINC00909 0 0 0.041 0 0 0 0 12 0 0 0 0 6.38 84401 chr18 74980684 74980684 G A rs199730182 GALR1 Synonymous SNV A292A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.5 84402 chr18 77119352 77119352 A C ATP9B 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 84403 chr18 77477995 77477995 G A rs543624840 CTDP1 Nonsynonymous SNV R680H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.481 84404 chr19 1000717 1000717 C A rs139242998 GRIN3B Nonsynonymous SNV A94E 0.005 0 0.007 1 6 0 0.003 2 0 0 1 0 0.648 84405 chr19 10431342 10431342 C T rs368092939 RAVER1 Nonsynonymous SNV D587N 0.003 0.008 0.014 0 4 3 0 4 0 0 0 0 24 84406 chr19 10610239 10610239 G A rs200294114 KEAP1 Synonymous SNV N157N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.912 84407 chr19 10662801 10662801 A C rs762841570 MIR1238 0 0 0.003 0 0 0 0 1 0 0 0 0 5.906 84408 chr19 1079968 1079968 G A rs34047143 ARHGAP45 Synonymous SNV A153A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.92 84409 chr19 1235518 1235518 C G rs118033234 CBARP Nonsynonymous SNV G98R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 84410 chr19 12816559 12816559 G T rs7248726 TNPO2 Synonymous SNV P564P 0.014 0.023 0.034 4 16 9 0.01 10 0 0 1 0 7.923 84411 chr19 12866228 12866228 C T rs112425354 BEST2 Synonymous SNV L224L 0.003 0.005 0.01 3 3 2 0.008 3 0 0 0 0 12.86 84412 chr19 12991919 12991919 G C rs112348773 DNASE2 Nonsynonymous SNV A45G 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 11.21 84413 chr19 13010875 13010875 G C rs145442966 SYCE2 Synonymous SNV P185P 0.005 0.016 0.01 1 6 6 0.003 3 0 0 0 0 8.325 84414 chr19 13409804 13409804 C T rs776245933 CACNA1A Synonymous SNV R882R 0 0 0.007 0 0 0 0 2 0 0 0 0 9.193 84415 chr19 1360889 1360889 C T rs11880588 PWWP3A Synonymous SNV A255A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.67 84416 chr19 14568850 14568850 C T PKN1 Synonymous SNV V391V 0 0 0.007 0 0 0 0 2 0 0 0 0 15.54 84417 chr19 1468696 1468696 C T rs73516821 APC2 Nonsynonymous SNV P1798L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.284 84418 chr19 1507585 1507585 C A rs138308068 ADAMTSL5 Nonsynonymous SNV R220L 0.009 0.016 0.014 4 11 6 0.01 4 1 0 0 0 22.8 84419 chr19 17160720 17160720 G A rs61735360 HAUS8 Nonsynonymous SNV P398L 0.016 0.018 0.01 4 19 7 0.01 3 0 0 0 0 3.931 84420 chr19 17184100 17184102 CTT - rs779398562 HAUS8 K25del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 84421 chr19 17212862 17212862 G A rs760958578 MYO9B Nonsynonymous SNV R112H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 84422 chr19 17435593 17435593 C T ANO8 Synonymous SNV R1088R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 84423 chr19 17471363 17471363 A G rs117401486 PLVAP Synonymous SNV P432P 0.008 0.01 0.01 2 9 4 0.005 3 0 0 0 0 0.872 84424 chr19 19609341 19609341 C T rs369949699 GATAD2A Synonymous SNV A338A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 84425 chr19 20135122 20135122 G T rs368747912 ZNF682 Nonsynonymous SNV P23T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84426 chr19 23438039 23438039 T A rs295357 IPO5P1 0 0 0.102 0 0 0 0 30 0 0 14 0 8.953 84427 chr19 2811728 2811770 GCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAACG - rs768023979 THOP1 K636Wfs*28 0.006 0.005 0.01 3 7 2 0.008 3 0 0 1 0 84428 chr19 3119326 3119326 G C rs118125169 GNA11 Synonymous SNV S286S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.233 84429 chr19 34868419 34868419 C T rs779166692 GPI Synonymous SNV S138S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 84430 chr19 36164140 36164140 G C rs144711603 UPK1A Nonsynonymous SNV V98L 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 15.66 84431 chr19 36224008 36224008 C T rs777573810 KMT2B Synonymous SNV P2186P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 11.26 84432 chr19 36980588 36980588 T C rs45573837 LOC728752 0 0 0.071 0 0 0 0 21 0 0 1 0 4.873 84433 chr19 36980642 36980642 G T rs45625538 LOC728752 0 0 0.068 0 0 0 0 20 0 0 0 0 7.531 84434 chr19 36981137 36981137 A - rs143933910 LOC728752 0 0 0.071 0 0 0 0 21 0 0 1 0 84435 chr19 38885412 38885412 C A rs112201791 SPRED3 Nonsynonymous SNV R185S 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 14.66 84436 chr19 39384148 39384148 T A rs45535036 SIRT2 Nonsynonymous SNV L7F 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Benign 8.504 84437 chr19 39396013 39396013 C T rs201990071 NFKBIB Nonsynonymous SNV R67C 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 13.24 84438 chr19 39401288 39401288 C T rs181740944 CCER2 Nonsynonymous SNV R209H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.516 84439 chr19 39401436 39401436 C T rs371603378 CCER2 Nonsynonymous SNV E160K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 84440 chr19 39401722 39401722 C G rs375222589 CCER2 Nonsynonymous SNV E64D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 84441 chr19 39421241 39421241 C T rs142446687 SARS2 Nonsynonymous SNV E46K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 84442 chr19 40520908 40520908 T G rs78499152 ZNF546 Nonsynonymous SNV S551R 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 22.7 84443 chr19 40540697 40540697 G A rs117389731 ZNF780B Nonsynonymous SNV T690I 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 0.086 84444 chr19 40540724 40540724 A C rs149178822 ZNF780B Nonsynonymous SNV V681G 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 5.599 84445 chr19 40540900 40540900 G A rs74441825 ZNF780B Synonymous SNV F622F 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 7.47 84446 chr19 40541514 40541514 C G rs138208273 ZNF780B Nonsynonymous SNV E418Q 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 0.001 84447 chr19 40541528 40541528 T C rs142810155 ZNF780B Nonsynonymous SNV D413G 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 0.027 84448 chr19 40580431 40580431 C G rs117907760 ZNF780A Nonsynonymous SNV A640P 0.003 0.005 0.01 3 3 2 0.008 3 0 0 0 0 10.7 84449 chr19 40582086 40582086 A G rs117501285 ZNF780A Nonsynonymous SNV V88A 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 0.346 84450 chr19 40883933 40883933 G A rs4819 PLD3 Synonymous SNV A442A 0.008 0.008 0.017 1 9 3 0.003 5 0 0 0 0 Likely benign 14.65 84451 chr19 40902030 40902030 G A rs144975214 PRX Synonymous SNV P743P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.267 84452 chr19 42879796 42879796 G A rs111595088 MEGF8 Synonymous SNV A2402A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.037 84453 chr19 4343988 4343988 C T rs1019723246 MPND Synonymous SNV Y97Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.24 84454 chr19 44377350 44377350 C A rs200890436 ZNF404 Nonsynonymous SNV G336V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 84455 chr19 44536509 44536509 C G rs199727616 ZNF222 Nonsynonymous SNV P268A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 84456 chr19 45287587 45287587 C G rs771512337 CBLC Synonymous SNV G282G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 84457 chr19 45561127 45561127 C T rs780663630 CLASRP Nonsynonymous SNV S133L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 84458 chr19 4816688 4816688 C T rs143679494 TICAM1 Nonsynonymous SNV A568T 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 Likely benign 1.164 84459 chr19 49912284 49912284 G A rs150463447 CCDC155 Nonsynonymous SNV D352N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 84460 chr19 49949875 49949875 A C rs780451886 PIH1D1 Nonsynonymous SNV L255R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 84461 chr19 50004068 50004068 T C MIR150 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 84462 chr19 50098592 50098592 C T rs8109974 PRR12 Synonymous SNV L334L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.32 84463 chr19 50100404 50100404 T C rs11881711 PRR12 Synonymous SNV L938L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.012 84464 chr19 50102651 50102651 T C rs80139038 PRR12 Synonymous SNV I1267I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.574 84465 chr19 50105004 50105004 T C rs111398914 PRR12 Synonymous SNV S1534S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 84466 chr19 50119223 50119223 A G rs11879756 PRR12 Synonymous SNV T1748T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.011 84467 chr19 50119304 50119304 A G rs11879761 PRR12 Synonymous SNV Q1775Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.052 84468 chr19 50148328 50148328 G C rs114682662 SCAF1 Synonymous SNV G15G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.768 84469 chr19 50203964 50203964 G A rs781746898 CPT1C Nonsynonymous SNV R102Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.851 84470 chr19 50496183 50496183 C T rs56089748 VRK3 Synonymous SNV E249E 0.008 0.008 0.027 6 9 3 0.015 8 0 0 1 0 15.69 84471 chr19 50826281 50826281 G A rs111744086 KCNC3 Synonymous SNV G567G 0.015 0.008 0.027 4 18 3 0.01 8 0 0 0 0 Benign 8.954 84472 chr19 52004714 52004714 G A rs145312255 SIGLEC12 Stop gain R92X 0.001 0 0.007 0 1 0 0 2 0 0 0 0 31 84473 chr19 52033760 52033760 G A rs148934624 SIGLEC6 Nonsynonymous SNV R240W 0.021 0.016 0.01 7 25 6 0.018 3 0 0 0 0 3.021 84474 chr19 53304787 53304787 T C rs74870761 ZNF28 Nonsynonymous SNV D51G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 6.168 84475 chr19 54074878 54074878 C T rs141689271 ZNF331 Synonymous SNV D10D 0.006 0.01 0.007 3 7 4 0.008 2 0 0 0 0 11.94 84476 chr19 55221543 55221543 T G rs45452596 LILRP2 0 0 0.014 0 0 0 0 4 0 0 0 0 0.178 84477 chr19 55873683 55873683 G A FAM71E2 Nonsynonymous SNV P165L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 84478 chr19 56030072 56030072 A G rs768510291 SSC5D Nonsynonymous SNV T1477A 0 0 0.014 0 0 0 0 4 0 0 0 0 10.65 84479 chr19 57157115 57157115 G T rs184713147 SMIM17 Nonsynonymous SNV R27L 0 0 0.007 0 0 0 0 2 0 0 0 0 17.1 84480 chr19 58090044 58090044 G A rs138550315 ZNF416 Nonsynonymous SNV T10I 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 11.67 84481 chr19 58850206 58850206 G A rs62116373 ZSCAN22 Nonsynonymous SNV G325E 0.012 0.016 0.017 7 14 6 0.018 5 0 1 0 0 12.25 84482 chr19 58967625 58967625 C T rs117582968 ZNF324B Synonymous SNV S438S 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 12.02 84483 chr19 6737538 6737538 C A rs753101121 GPR108 Nonsynonymous SNV W17L 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 84484 chr19 7573161 7573165 TTTCC - rs753283645 TEX45 P456Qfs*56 0 0 0.007 0 0 0 0 2 0 0 0 0 84485 chr19 827891 827891 G A rs34124897 AZU1 Synonymous SNV A15A 0.046 0.057 0.037 17 54 22 0.044 11 1 0 0 0 6.024 84486 chr19 855997 855997 C T rs201326533 ELANE Nonsynonymous SNV H213Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 9.302 84487 chr19 9362188 9362188 C T rs201669790 OR7E24 Nonsynonymous SNV R157C 0 0 0.007 0 0 0 0 2 0 0 0 0 0.596 84488 chr19 9448694 9448694 G A rs561042610 ZNF559 0 0 0.007 0 0 0 0 2 0 0 0 0 8.372 84489 chr19 9640201 9640201 G A ZNF426 Nonsynonymous SNV H136Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84490 chr1 102312412 102312412 G A rs41287302 OLFM3 Nonsynonymous SNV P40S 0.044 0.06 0.044 13 52 23 0.033 13 2 0 1 0 16.13 84491 chr1 109656870 109656870 T A rs201352339 KIAA1324 Nonsynonymous SNV I22K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.697 84492 chr1 109795898 109795898 G A rs12083590 CELSR2 Nonsynonymous SNV R1066Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 17.73 84493 chr1 1116227 1116227 G A rs200208314 TTLL10 Nonsynonymous SNV G175R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 84494 chr1 116932921 116932921 G A rs11540956 ATP1A1 Synonymous SNV T370T 0.019 0.016 0.031 7 22 6 0.018 9 0 0 1 0 16.3 84495 chr1 117619377 117619377 C G rs142460316 TTF2 Nonsynonymous SNV P502R 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 12.49 84496 chr1 118483474 118483474 C G rs3738420 WDR3 Nonsynonymous SNV P234A 0.004 0.003 0.014 3 5 1 0.008 4 0 0 0 0 0.021 84497 chr1 118491102 118491102 G A rs34411361 WDR3 Synonymous SNV L499L 0.006 0.003 0.017 4 7 1 0.01 5 0 0 0 0 7.821 84498 chr1 118495153 118495153 T G rs2295630 WDR3 Synonymous SNV G673G 0.007 0.003 0.017 4 8 1 0.01 5 0 0 0 0 11.11 84499 chr1 118509278 118509278 G A rs3738422 SPAG17 Synonymous SNV I2162I 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 7.314 84500 chr1 118509284 118509284 G T rs61729969 SPAG17 Nonsynonymous SNV H2160Q 0.005 0.003 0.017 4 6 1 0.01 5 0 0 0 0 22.2 84501 chr1 118516082 118516082 A T rs61729968 SPAG17 Nonsynonymous SNV L2036Q 0.006 0.003 0.017 4 7 1 0.01 5 0 0 0 0 0.14 84502 chr1 11861357 11861357 G A rs777803896 MTHFR Synonymous SNV I153I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.8 84503 chr1 146649645 146649645 C T rs143026150 PDIA3P1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.118 84504 chr1 150443780 150443780 G A rs191562697 RPRD2 Nonsynonymous SNV V760I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 84505 chr1 150531905 150531905 C A rs150225445 ADAMTSL4 Nonsynonymous SNV A969D 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 14.05 84506 chr1 150955582 150955582 A G rs267731 ANXA9 Star tloss M1? 0.023 0.021 0.034 9 27 8 0.023 10 1 0 0 0 23.1 84507 chr1 151015564 151015564 G A rs61751620 BNIPL Nonsynonymous SNV R107H 0.009 0 0.007 2 11 0 0.005 2 0 0 0 0 23.9 84508 chr1 151252514 151252514 T G rs587681906 ZNF687-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.39 84509 chr1 152286967 152286967 T C rs139087030 FLG Nonsynonymous SNV N132S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 84510 chr1 153914557 153914557 C T rs76818957 DENND4B Synonymous SNV A292A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.21 84511 chr1 154948230 154948230 C T MIR4258 0 0 0.003 0 0 0 0 1 0 0 0 0 8.619 84512 chr1 1562119 1562119 G A rs772789020 MIB2 Synonymous SNV T404T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 84513 chr1 156518433 156518433 C T rs11264496 IQGAP3 Nonsynonymous SNV D645N 0.013 0.005 0.02 1 15 2 0.003 6 0 0 0 0 5.079 84514 chr1 156848968 156848968 C T rs6338 NTRK1 Synonymous SNV G614G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 11.08 84515 chr1 156879555 156879555 G T rs748207434 PEAR1 Nonsynonymous SNV G475V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 84516 chr1 157062736 157062736 G A rs78985424 ETV3L Nonsynonymous SNV A264V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.507 84517 chr1 157666084 157666084 C A rs115596233 FCRL3 Nonsynonymous SNV R293L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.37 84518 chr1 158390028 158390028 G C rs76478452 OR10K2 Nonsynonymous SNV P210R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 84519 chr1 158390035 158390035 C T rs12240099 OR10K2 Nonsynonymous SNV A208T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.92 84520 chr1 158390119 158390119 C T rs73019729 OR10K2 Nonsynonymous SNV D180N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 84521 chr1 158390229 158390229 C A rs73019731 OR10K2 Nonsynonymous SNV G143V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.287 84522 chr1 158390541 158390541 A C rs79869455 OR10K2 Nonsynonymous SNV L39R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 84523 chr1 158517041 158517041 G A rs73014208 OR6Y1 Synonymous SNV V285V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.785 84524 chr1 158533095 158533095 T C rs73014246 OR6P1 Synonymous SNV Q100Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 84525 chr1 158647570 158647570 A G rs12083637 SPTA1 Synonymous SNV S289S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.561 84526 chr1 158651394 158651394 C T rs16840544 SPTA1 Nonsynonymous SNV D152N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.005 84527 chr1 158669968 158669968 T A rs6686179 OR6K2 Nonsynonymous SNV I159F 0 0 0.003 0 0 0 0 1 0 0 0 0 26 84528 chr1 158687451 158687451 C T rs73030055 OR6K3 Nonsynonymous SNV G152D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 84529 chr1 159167005 159167005 C T rs2746042 CADM3-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 6.688 84530 chr1 159505202 159505202 T A rs56786307 OR10J5 Nonsynonymous SNV Y199F 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign 0.005 84531 chr1 159557723 159557723 G A rs182065199 APCS Synonymous SNV P4P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.426 84532 chr1 159898437 159898437 G A rs35574000 IGSF9 Nonsynonymous SNV P914L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 84533 chr1 159904555 159904555 A G rs35406216 IGSF9 Nonsynonymous SNV V244A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 4.13 84534 chr1 160062398 160062398 C T rs76790197 IGSF8 Nonsynonymous SNV R467Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 84535 chr1 160321499 160321499 C T rs6664627 NCSTN Synonymous SNV D249D 0.046 0.031 0.058 15 54 12 0.038 17 3 0 0 0 14.36 84536 chr1 160322763 160322763 A G rs2296270 NCSTN Synonymous SNV S223S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.84 84537 chr1 160853247 160853247 T G rs188204725 ITLN1 Nonsynonymous SNV E43A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 84538 chr1 161654948 161654948 T C rs6686673 RPL31P11 0 0 0.082 0 0 0 0 24 0 0 4 0 0.395 84539 chr1 162324996 162324996 C T rs61751200 NOS1AP Synonymous SNV A200A 0.003 0.003 0.017 0 4 1 0 5 0 0 0 0 Benign 19.86 84540 chr1 167095507 167095507 G C rs758855328 DUSP27 Nonsynonymous SNV G380A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 84541 chr1 169762002 169762002 T C rs140538608 METTL18 Nonsynonymous SNV S279G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.146 84542 chr1 172007478 172007478 G A rs781193654 DNM3 Nonsynonymous SNV R290Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 84543 chr1 172501769 172501769 A G rs763590229 SUCO Nonsynonymous SNV S53G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.652 84544 chr1 173916720 173916720 T C rs769224082 RC3H1 Nonsynonymous SNV N842D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 84545 chr1 178063812 178063812 G C rs144829800 RASAL2 Nonsynonymous SNV S62T 0.003 0 0.02 0 3 0 0 6 0 0 0 0 17.74 84546 chr1 180159621 180159621 G A rs61736297 QSOX1 Synonymous SNV P398P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.56 84547 chr1 190195259 190195259 C T rs774992892 BRINP3 Nonsynonymous SNV R203Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 84548 chr1 190768978 190768978 A G LINC01720 0 0 0.003 0 0 0 0 1 0 0 0 0 4.137 84549 chr1 20082209 20082209 G A rs144542419 TMCO4 Nonsynonymous SNV L145F 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 15.42 84550 chr1 200959728 200959728 C T rs61740468 KIF21B Synonymous SNV E937E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 16.13 84551 chr1 201193852 201193852 T C rs34849739 IGFN1 Synonymous SNV L3446L 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 7.411 84552 chr1 20140973 20140973 G T rs35541730 RNF186 Nonsynonymous SNV P208T 0.026 0.023 0.051 7 31 9 0.018 15 0 0 0 0 16.28 84553 chr1 202097330 202097330 G C rs114501386 GPR37L1 Synonymous SNV L364L 0.009 0.003 0.01 3 11 1 0.008 3 1 0 0 0 2.109 84554 chr1 205901102 205901102 C T rs200068898 SLC26A9 Synonymous SNV S146S 0 0 0.007 0 0 0 0 2 0 0 0 0 16.41 84555 chr1 2103503 2103503 G A rs759965891 PRKCZ Synonymous SNV A174A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.497 84556 chr1 21268194 21268194 G C rs142103671 EIF4G3 Nonsynonymous SNV P429A 0.009 0.005 0.014 5 11 2 0.013 4 0 0 0 0 0.025 84557 chr1 213031192 213031192 A T rs183323430 FLVCR1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 7.115 84558 chr1 213031464 213031464 C G rs12404942 FLVCR1-DT 0 0 0.044 0 0 0 0 13 0 0 1 0 4.989 84559 chr1 218683528 218683528 A G rs7532546 C1orf143 0 0 0.082 0 0 0 0 24 0 0 2 0 0.804 84560 chr1 220193423 220193423 T C rs114015346 EPRS1 Nonsynonymous SNV Y419C 0.002 0 0.01 0 2 0 0 3 0 0 0 0 26.4 84561 chr1 223931898 223931898 A G CAPN2 Nonsynonymous SNV Y57C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 84562 chr1 225580081 225580081 C T rs572676833 DNAH14 Synonymous SNV N4473N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.024 84563 chr1 226552742 226552742 C T rs770091324 PARP1 Synonymous SNV L873L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.21 84564 chr1 230492801 230492801 C T rs41315609 PGBD5 Nonsynonymous SNV A200T 0.01 0.005 0.02 8 12 2 0.021 6 0 0 0 0 Benign 27.9 84565 chr1 231344908 231344908 A G rs114415891 TRIM67 Nonsynonymous SNV M679V 0.009 0.005 0.024 13 11 2 0.033 7 0 0 0 0 7.573 84566 chr1 232581366 232581366 C T rs200293380 SIPA1L2 Nonsynonymous SNV D1088N 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 25.8 84567 chr1 233105677 233105677 G A rs12123482 NTPCR Nonsynonymous SNV G106E 0.006 0.016 0.024 5 7 6 0.013 7 0 0 0 0 0.817 84568 chr1 233511675 233511675 A C rs35758282 MAP3K21 Nonsynonymous SNV E563D 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 22.1 84569 chr1 233759939 233759939 C T rs701214 MIR4427 0 0 0.102 0 0 0 0 30 0 0 2 0 5.593 84570 chr1 236714292 236714292 - AA rs373763274 HEATR1 0 0 0.048 0 0 0 0 14 0 0 0 0 84571 chr1 236721658 236721658 T C rs199577251 HEATR1 Nonsynonymous SNV T1695A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 84572 chr1 238050081 238050081 T C rs36017138 ZP4 Nonsynonymous SNV S277G 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 25 84573 chr1 238050136 238050136 T C rs520720 ZP4 Synonymous SNV E258E 0.014 0.003 0.01 1 16 1 0.003 3 0 0 0 0 0.009 84574 chr1 238090257 238090257 A G rs548164 LOC100130331 0 0 0.095 0 0 0 0 28 0 0 7 0 0.05 84575 chr1 238090369 238090369 C T rs41308192 LOC100130331 0 0 0.007 0 0 0 0 2 0 0 0 0 3.674 84576 chr1 241946640 241946640 G C rs780237006 WDR64 Nonsynonymous SNV E888Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 84577 chr1 24408602 24408602 G C rs201249392 MYOM3 Synonymous SNV P723P 0.014 0.003 0.017 1 17 1 0.003 5 1 0 0 0 1.349 84578 chr1 24507335 24507335 C T rs200375008 IFNLR1 Nonsynonymous SNV R23H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.501 84579 chr1 247614727 247614727 C T rs149870519 OR2B11 Synonymous SNV P186P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.106 84580 chr1 247737493 247737493 A C rs115796168 GCSAML Nonsynonymous SNV N41H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 84581 chr1 27708996 27708996 C T rs199814220 CD164L2 Nonsynonymous SNV E84K 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 24.8 84582 chr1 28907152 28907153 TC - SNHG12 0 0 0.003 0 0 0 0 1 0 0 0 0 84583 chr1 31191869 31191869 G C rs538166692 MATN1-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.199 84584 chr1 32280787 32280787 C T rs34615674 SPOCD1 Nonsynonymous SNV G50R 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 0.107 84585 chr1 35227008 35227011 TGTC - rs146812843 GJB4 V52Afs*55 0.026 0.01 0.014 11 31 4 0.028 4 0 0 0 0 84586 chr1 35250457 35250457 C T rs1805063 GJB3 Nonsynonymous SNV R32W 0.011 0.008 0.007 4 13 3 0.01 2 0 0 0 0 Benign 27.5 84587 chr1 36060035 36060035 C T rs145119239 TFAP2E Nonsynonymous SNV R363C 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 35 84588 chr1 42050343 42050343 T A rs147545420 HIVEP3 Synonymous SNV T42T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.043 84589 chr1 43205670 43205670 A G rs140913043 CLDN19 Nonsynonymous SNV I22T 0.001 0 0.014 1 1 0 0.003 4 0 0 0 0 Uncertain significance 26.7 84590 chr1 45166594 45166594 G A rs185823968 ARMH1 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 84591 chr1 46727054 46727054 C T rs145556724 RAD54L Synonymous SNV D116D 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Likely benign 10.35 84592 chr1 53535499 53535499 C T rs17107831 PODN Nonsynonymous SNV A39V 0 0 0.088 0 0 0 0 26 0 0 0 0 0.01 84593 chr1 54703631 54703631 G A rs74071604 SSBP3-AS1 0 0 0.041 0 0 0 0 12 0 0 0 0 1.541 84594 chr1 55472944 55472944 G A rs750027126 BSND Nonsynonymous SNV G183S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.022 84595 chr1 57399068 57399068 T C rs200245622 C8B Nonsynonymous SNV K498E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.824 84596 chr1 6215713 6215713 G A rs150062924 CHD5 Nonsynonymous SNV S151L 0.016 0.008 0.007 6 19 3 0.015 2 1 0 0 0 27.9 84597 chr1 65890990 65890990 C T rs13306523 LEPROT Synonymous SNV L7L 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 18.98 84598 chr1 6631106 6631106 C T rs41278020 TAS1R1 Nonsynonymous SNV A110V 0.01 0.008 0.017 5 12 3 0.013 5 0 0 0 0 23.4 84599 chr1 67880898 67880898 C G SERBP1 Nonsynonymous SNV G374A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 84600 chr1 68649258 68649258 C T rs147113488 MIR1262 0 0 0.007 0 0 0 0 2 0 0 0 0 6.38 84601 chr1 76209950 76209950 G A rs558615523 DLSTP1 0 0 0.017 0 0 0 0 5 0 0 1 0 5.78 84602 chr1 7826559 7826559 C T rs370598405 CAMTA1 Stop gain Q710X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.3 84603 chr1 86590858 86590858 C T rs12734349 COL24A1 Synonymous SNV L387L 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 11.05 84604 chr1 897780 897780 G C KLHL17 Nonsynonymous SNV E253Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 84605 chr1 902158 902158 A G PLEKHN1 Nonsynonymous SNV K53R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.144 84606 chr1 9791823 9791823 G A rs762612911 CLSTN1 Synonymous SNV F834F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 84607 chr1 98511733 98511733 - CCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTA MIR137HG 0 0 0.017 0 0 0 0 5 0 0 1 0 84608 chr20 11249034 11249034 - T LOC339593 0 0 0.014 0 0 0 0 4 0 0 0 0 84609 chr20 17623770 17623770 G A rs143378274 RRBP1 Nonsynonymous SNV P639S 0.007 0.005 0.014 1 8 2 0.003 4 0 0 0 0 Likely benign 18.71 84610 chr20 21494243 21494243 T C rs767455882 NKX2-2 Nonsynonymous SNV N22S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 84611 chr20 2384328 2384328 T G rs201204911 TGM6 Nonsynonymous SNV Y399D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.9 84612 chr20 2443689 2443689 A C rs201974960 SNORD119 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 9.14 84613 chr20 25028774 25028774 A T rs371471905 ACSS1 Synonymous SNV V126V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 84614 chr20 2845829 2845829 G A VPS16 Synonymous SNV Q536Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.629 84615 chr20 31097989 31097989 C T rs6579021 LOC101929698 0 0 0.02 0 0 0 0 6 0 0 0 0 0.323 84616 chr20 31765964 31765964 T C rs765909063 BPIFA2 Nonsynonymous SNV I192T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 84617 chr20 33529537 33529537 C T GSS Stop gain W196X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 84618 chr20 3673306 3673306 C T rs761343460 SIGLEC1 Nonsynonymous SNV G1298S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.87 84619 chr20 40074359 40074359 C T rs919191625 CHD6 Nonsynonymous SNV D1275N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 84620 chr20 42310426 42310426 C T rs2227937 MYBL2 Synonymous SNV D39D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.18 84621 chr20 42328424 42328424 G T rs138968603 MYBL2 Nonsynonymous SNV V207F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.603 84622 chr20 42355270 42355270 A T rs146189774 GTSF1L Nonsynonymous SNV F22Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 84623 chr20 47850216 47850216 C T rs771190820 DDX27 Nonsynonymous SNV R446C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 84624 chr20 50234089 50234089 G A rs746667011 ATP9A Synonymous SNV D785D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 84625 chr20 50803459 50803459 C T rs34252344 ZFP64 Synonymous SNV T66T 0.02 0.031 0.024 15 23 12 0.038 7 0 1 0 1 7.326 84626 chr20 56191387 56191387 C A rs34917164 ZBP1 Nonsynonymous SNV V58F 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Likely benign 23.5 84627 chr20 57392686 57392686 G A rs117258475 MIR296 0 0 0.027 0 0 0 0 8 0 0 1 0 16.88 84628 chr20 5904439 5904439 A G rs778517271 CHGB Nonsynonymous SNV E550G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 84629 chr20 60913648 60913648 C T rs146065187 LAMA5 Synonymous SNV A498A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 84630 chr20 61050142 61050142 C A GATA5 Nonsynonymous SNV V146L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 84631 chr20 61981785 61981785 G A rs76270730 CHRNA4 Synonymous SNV F326F 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 10.75 84632 chr20 62178594 62178594 C T rs55863722 SRMS Nonsynonymous SNV G75R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 84633 chr20 62737364 62737364 G A rs368832793 NPBWR2 Nonsynonymous SNV T274M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 84634 chr20 8755222 8755222 G A rs45464693 PLCB1 Synonymous SNV T989T 0.019 0.021 0.017 0 22 8 0 5 0 0 0 0 Conflicting interpretations of pathogenicity 12.92 84635 chr21 38568215 38568215 C T rs8130789 TTC3 Synonymous SNV S1097S 0.009 0.003 0.02 1 11 1 0.003 6 0 0 0 0 10.45 84636 chr21 38568259 38568259 C T rs61736685 TTC3 Nonsynonymous SNV A1112V 0.009 0.003 0.02 1 11 1 0.003 6 0 0 0 0 13.01 84637 chr21 38592712 38592712 G A rs8131588 DSCR9 0 0 0.02 0 0 0 0 6 0 0 0 0 3.958 84638 chr21 38593803 38593803 T C rs35176483 DSCR9 0 0 0.02 0 0 0 0 6 0 0 0 0 2.43 84639 chr21 39526551 39526551 G A rs138412257 DSCR8 0.017 0.018 0.014 5 20 7 0.013 4 0 0 0 0 10.84 84640 chr21 43528519 43528519 G C rs192374598 UMODL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.097 84641 chr21 46067184 46067184 C T rs78191358 KRTAP10-11 Nonsynonymous SNV P270L 0.041 0.036 0.027 14 48 14 0.036 8 0 0 0 0 23.8 84642 chr21 47422285 47422285 G A rs138976133 COL6A1 Synonymous SNV P740P 0.01 0.008 0.01 4 12 3 0.01 3 0 0 0 0 Benign/Likely benign 2.884 84643 chr21 47551964 47551964 G A rs144830948 COL6A2 Nonsynonymous SNV R853Q 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 Benign/Likely benign 22.6 84644 chr21 47552117 47552117 C T rs376665722 COL6A2 Nonsynonymous SNV A904V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.2 84645 chr21 47676840 47676840 A G rs7279894 MCM3AP Synonymous SNV A1265A 0.004 0.003 0.027 0 5 1 0 8 0 0 0 0 6.703 84646 chr21 47695220 47695220 A G rs2839190 MCM3AP Synonymous SNV D626D 0.007 0.005 0.034 1 8 2 0.003 10 0 0 1 0 1.198 84647 chr22 18975345 18975345 A C rs2518802 DGCR5 0 0 0.041 0 0 0 0 12 0 0 2 0 0.5 84648 chr22 19006226 19006226 T C rs2003008 DGCR9 0 0 0.02 0 0 0 0 6 0 0 0 0 0.6 84649 chr22 19006227 19006227 G T rs537462074 DGCR9 0 0 0.02 0 0 0 0 6 0 0 0 0 0.423 84650 chr22 19006241 19006241 C A rs111930215 DGCR9 0 0 0.02 0 0 0 0 6 0 0 0 0 6.539 84651 chr22 19006249 19006249 A G rs145440333 DGCR9 0 0 0.02 0 0 0 0 6 0 0 0 0 0.958 84652 chr22 19420113 19420113 - CTGCG MRPL40 Frameshift insertion P15Cfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 84653 chr22 20024596 20024596 C G rs186875212 TANGO2 Stop gain S53X 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.803 84654 chr22 20760516 20760516 C A rs201460461 ZNF74 Nonsynonymous SNV T327N 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 24.7 84655 chr22 20779744 20779744 G A rs537247534 SCARF2 Nonsynonymous SNV P845S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 84656 chr22 21134023 21134023 G A rs35646566 SERPIND1 Synonymous SNV L141L 0.016 0.016 0.027 9 19 6 0.023 8 0 0 0 0 5.985 84657 chr22 21357006 21357006 C T rs4822808 THAP7-AS1 0 0 0.116 0 0 0 0 34 0 0 9 0 8.136 84658 chr22 21384516 21384516 C T rs61740649 SLC7A4 Synonymous SNV A369A 0.024 0.023 0.031 6 28 9 0.015 9 1 0 0 0 7.598 84659 chr22 22293921 22293923 TCC - rs551955938 PPM1F E113del 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 84660 chr22 29940556 29940556 G C rs61740613 THOC5 Nonsynonymous SNV L45V 0.012 0.003 0.014 8 14 1 0.021 4 0 0 0 0 22.9 84661 chr22 32666596 32666596 G A rs73164068 SLC5A4-AS1 0 0 0.129 0 0 0 0 38 0 0 3 0 7.636 84662 chr22 36122380 36122380 T A rs41283201 APOL5 Nonsynonymous SNV S89T 0.045 0.052 0.058 22 53 20 0.056 17 1 0 0 1 0.013 84663 chr22 36122433 36122433 T C rs16996023 APOL5 Synonymous SNV F106F 0.045 0.052 0.058 22 53 20 0.056 17 1 0 0 1 0.008 84664 chr22 37266453 37266453 A G rs79312013 NCF4-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 3.954 84665 chr22 37531375 37531375 C T rs116250343 IL2RB Nonsynonymous SNV G271R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.78 84666 chr22 37538508 37538508 G A rs2228143 IL2RB Nonsynonymous SNV S83F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.503 84667 chr22 42607589 42607589 G T TCF20 Synonymous SNV G1241G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 84668 chr22 44112818 44112818 G A rs200897830 EFCAB6 Synonymous SNV S112S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.608 84669 chr22 46655365 46655365 C T rs35272610 PKDREJ Synonymous SNV T1285T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 16.69 84670 chr22 46656242 46656242 A G rs34798212 PKDREJ Nonsynonymous SNV V993A 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 0.001 84671 chr22 46657637 46657637 C T rs6008394 PKDREJ Nonsynonymous SNV R528Q 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.014 84672 chr22 46671154 46671154 G A rs35254267 TTC38 Synonymous SNV P125P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 12.33 84673 chr22 50584123 50584123 T C rs149915803 MOV10L1 Synonymous SNV V837V 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 0.285 84674 chr22 50728622 50728622 C T rs368491965 PLXNB2 Nonsynonymous SNV R131H 0 0 0.003 0 0 0 0 1 0 0 0 0 21 84675 chr2 113514786 113514786 A C rs201346406 CKAP2L Nonsynonymous SNV I54M 0 0.003 0.01 2 0 1 0.005 3 0 0 0 0 Likely benign 12.31 84676 chr2 113956759 113956759 G A rs767469013 PSD4 Nonsynonymous SNV E957K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 35 84677 chr2 15470796 15470825 TGGTGGTTGTGGTGTTGGAAAGGACTTTCA - NBAS M1415_T1424del 0 0 0.003 0 0 0 0 1 0 0 0 0 84678 chr2 159517704 159517704 - CATGCA rs10633217 PKP4-AS1 0 0 0.034 0 0 0 0 10 0 0 0 0 84679 chr2 166740469 166740469 A C rs115504901 TTC21B Synonymous SNV T1173T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.431 84680 chr2 170366686 170366686 G A rs147294651 KLHL41 Nonsynonymous SNV G133D 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 Likely benign 14.44 84681 chr2 171572909 171572909 C G rs76206900 SP5 Synonymous SNV G64G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.61 84682 chr2 173337519 173337519 A G rs139181030 ITGA6 Nonsynonymous SNV S107G 0.001 0.005 0.017 2 1 2 0.005 5 0 0 0 0 21.1 84683 chr2 173356032 173356032 G C rs61757097 ITGA6 Synonymous SNV S954S 0.001 0.005 0.017 2 1 2 0.005 5 0 0 0 0 Benign/Likely benign 7.053 84684 chr2 173451074 173451074 T C rs36014095 PDK1 Synonymous SNV T338T 0.01 0.016 0.02 6 12 6 0.015 6 0 0 0 0 8.965 84685 chr2 176987533 176987533 T G HOXD9 Nonsynonymous SNV S13A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 84686 chr2 177494680 177494680 A C rs10930743 LINC01116 0 0 0.027 0 0 0 0 8 0 0 1 0 2.068 84687 chr2 179584366 179584366 G A rs201766927 TTN Synonymous SNV A6707A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.22 84688 chr2 180725568 180725568 T C rs146754630 MIR1258 0 0 0.02 0 0 0 0 6 0 0 1 0 9.585 84689 chr2 180851512 180851512 G A rs772950985 CWC22 Nonsynonymous SNV S39F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.98 84690 chr2 187697884 187697884 T C rs140928382 ZSWIM2 Nonsynonymous SNV I302V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.955 84691 chr2 191524518 191524518 A G rs367596026 NAB1 Nonsynonymous SNV M206V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.665 84692 chr2 211442212 211442212 G A rs114819130 CPS1 Nonsynonymous SNV G150E 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 84693 chr2 21232455 21232455 A T rs72653092 APOB Nonsynonymous SNV S2429T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.585 84694 chr2 217124216 217124216 G A rs762584593 MARCHF4 Nonsynonymous SNV T351I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.84 84695 chr2 224831718 224831718 C T rs376430869 MRPL44 Synonymous SNV T322T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.346 84696 chr2 233880508 233880508 A G rs62193981 LOC101928881 0 0 0.065 0 0 0 0 19 0 0 0 0 1.933 84697 chr2 234775346 234775346 G A rs13384181 MSL3P1 0 0 0.136 0 0 0 0 40 0 0 2 0 6.817 84698 chr2 239038795 239038795 G A rs200024700 ESPNL Synonymous SNV T112T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.545 84699 chr2 240061416 240061416 G A rs759109915 HDAC4 Synonymous SNV N314N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.063 84700 chr2 242498241 242498251 GGAAGCCCCGT - rs201711208 BOK-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 84701 chr2 242593011 242593011 G A rs143448469 ATG4B Nonsynonymous SNV R90Q 0.017 0.026 0.014 1 20 10 0.003 4 0 0 0 0 22.7 84702 chr2 24272645 24272645 C T rs116520786 FKBP1B 0.039 0.029 0.014 11 46 11 0.028 4 13 3 2 3 13.72 84703 chr2 24302358 24302358 G A rs139719848 TP53I3 Stop gain R258X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 84704 chr2 26698865 26698865 G A rs140613217 OTOF Nonsynonymous SNV R280C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 84705 chr2 27560202 27560202 C T rs763634070 GTF3C2 Nonsynonymous SNV A346T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 84706 chr2 29287897 29287897 C T rs191767954 PCARE Synonymous SNV P1235P 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 9.746 84707 chr2 3461442 3461442 C T rs199541864 TRAPPC12 Synonymous SNV S527S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 84708 chr2 37586736 37586736 G A rs116518028 QPCT Nonsynonymous SNV R94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 84709 chr2 42472797 42472797 G A rs754703198 EML4 Nonsynonymous SNV A60T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 84710 chr2 45620215 45620215 T A rs116583600 SRBD1 Nonsynonymous SNV Q856L 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 22.2 84711 chr2 47607096 47607096 A T rs758439465 EPCAM Synonymous SNV G282G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.469 84712 chr2 61415729 61415729 C T rs781061578 USP34 Synonymous SNV T3383T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.582 84713 chr2 62228006 62228006 C T rs150966526 COMMD1 Synonymous SNV S51S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 15.67 84714 chr2 68615546 68615546 A C rs34338164 PLEK Nonsynonymous SNV N229H 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 Benign 21 84715 chr2 69741718 69741718 T G AAK1 Nonsynonymous SNV Q554P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 84716 chr2 71160286 71160286 A G rs2234501 VAX2 Synonymous SNV L275L 0.025 0.016 0.031 3 29 6 0.008 9 0 0 1 0 0.44 84717 chr2 74687826 74687826 G A rs370974475 INO80B-WBP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.876 84718 chr2 75907408 75907408 T C rs145081957 GCFC2 Nonsynonymous SNV T406A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.7 84719 chr2 88408025 88408025 C T rs113707075 SMYD1 Synonymous SNV H414H 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 11.38 84720 chr3 101474385 101474385 A T rs2926543 CEP97 Synonymous SNV L280L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.489 84721 chr3 109213091 109213091 T C rs9877608 LINC01205 0 0 0.075 0 0 0 0 22 0 0 0 0 2.716 84722 chr3 111603577 111603577 C T rs553169056 PHLDB2 Nonsynonymous SNV A218V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.854 84723 chr3 113084922 113084922 T C rs35480872 CFAP44 Synonymous SNV L893L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.104 84724 chr3 122133671 122133671 T A rs375158653 WDR5B Nonsynonymous SNV K235N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 84725 chr3 122642472 122642472 T A rs35997592 SEMA5B Nonsynonymous SNV N364Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.3 84726 chr3 126736651 126736651 C T rs567657824 PLXNA1 Synonymous SNV I1192I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 84727 chr3 126737142 126737142 G A rs148887289 PLXNA1 Synonymous SNV R1222R 0 0.003 0.014 0 0 1 0 4 0 0 0 0 6.937 84728 chr3 127325174 127325174 C T rs199968234 MCM2 Nonsynonymous SNV S296L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 84729 chr3 130098639 130098639 C T rs142949552 COL6A5 Nonsynonymous SNV P349L 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 23.5 84730 chr3 133748570 133748570 G A rs201797879 SLCO2A1 Nonsynonymous SNV S26L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 24.3 84731 chr3 145917753 145917753 G A rs201384386 PLSCR4 Synonymous SNV T157T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.67 84732 chr3 151458621 151458621 A G rs147339731 AADACL2 Nonsynonymous SNV Y109C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 84733 chr3 158983154 158983154 C T IQCJ Nonsynonymous SNV P121S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.592 84734 chr3 160099337 160099337 T G rs560970159 IFT80 Synonymous SNV V71V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.679 84735 chr3 169846958 169846958 T C rs767756991 PHC3 Synonymous SNV P422P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 84736 chr3 183756692 183756692 C A rs115389821 HTR3D Nonsynonymous SNV L257M 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 26.6 84737 chr3 184039678 184039678 A G rs764457704 EIF4G1 Nonsynonymous SNV T240A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84738 chr3 193032089 193032089 C T ATP13A5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.17 84739 chr3 195595320 195595320 C T rs375132869 TNK2 Nonsynonymous SNV E634K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 84740 chr3 196051403 196051403 A G rs2280526 TM4SF19-AS1 0 0 0.262 0 0 0 0 77 0 0 36 0 4.31 84741 chr3 196118702 196118702 A G rs73213957 UBXN7 Synonymous SNV H150H 0.018 0.016 0.01 8 21 6 0.021 3 0 0 0 0 4.601 84742 chr3 25832687 25832687 C A rs750870154 OXSM Nonsynonymous SNV T59N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.9 84743 chr3 2613232 2613232 G C rs112813310 CNTN4 Nonsynonymous SNV L15F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 16.02 84744 chr3 36422176 36422176 G A rs143848363 STAC Nonsynonymous SNV G14E 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 24.1 84745 chr3 40500174 40500174 C T rs61748304 RPL14 Synonymous SNV A49A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.58 84746 chr3 44879843 44879843 C T rs138611262 KIF15 Nonsynonymous SNV S1083L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 15.4 84747 chr3 46007969 46007969 C A rs150498691 FYCO1 Nonsynonymous SNV G953W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.8 84748 chr3 47870534 47870534 A G rs768712167 DHX30 Synonymous SNV K92K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.866 84749 chr3 50416628 50416628 G A rs763353950 CACNA2D2 Synonymous SNV S385S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 84750 chr3 52179931 52179931 C T rs139147068 POC1A Nonsynonymous SNV A204T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 25.7 84751 chr3 52430684 52430684 C T rs144605025 DNAH1 Synonymous SNV N3827N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 11.56 84752 chr3 53882699 53882699 A G rs112485971 IL17RB Synonymous SNV Q23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 84753 chr3 55038839 55038839 A C CACNA2D3 Nonsynonymous SNV S914R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 84754 chr3 98217154 98217154 C T rs58947289 OR5K2 Synonymous SNV T210T 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 0.736 84755 chr4 100573844 100573844 G T rs556190189 C4orf54 Synonymous SNV S654S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.277 84756 chr4 1050636 1050636 C T rs60085185 RNF212 Synonymous SNV R268R 0 0 0.102 0 0 0 0 30 0 0 2 0 10.19 84757 chr4 113475071 113475071 G A rs7674697 ZGRF1 Synonymous SNV L1698L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.67 84758 chr4 113502826 113502826 A G rs150366222 ZGRF1 Synonymous SNV Y1419Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.442 84759 chr4 122687482 122687482 G A rs77005784 PP12613 0 0 0.092 0 0 0 0 27 0 0 0 0 5.979 84760 chr4 1244605 1244605 G T rs79317050 CTBP1-DT 0 0 0.01 0 0 0 0 3 0 0 0 0 0.029 84761 chr4 126411773 126411773 C T rs200851934 FAT4 Nonsynonymous SNV P4600L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.7 84762 chr4 13548911 13548911 C A rs73231543 LINC01096 0 0 0.17 0 0 0 0 50 0 0 6 0 11.87 84763 chr4 140811064 140811069 TGCTGC - rs757268789 MAML3 Q509_Q510del 0.033 0.039 0.037 7 39 15 0.018 11 0 1 0 1 84764 chr4 140811709 140811709 T C rs115966590 MAML3 Nonsynonymous SNV N294S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.26 84765 chr4 141463735 141463735 A G ELMOD2 Nonsynonymous SNV S181G 0 0 0.007 0 0 0 0 2 0 0 0 0 27.3 84766 chr4 158242671 158242671 T G rs140170280 GRIA2 Nonsynonymous SNV S268A 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 12.39 84767 chr4 159789441 159789441 C A rs62001914 FNIP2 Nonsynonymous SNV S197R 0.022 0.031 0.014 4 26 12 0.01 4 0 0 0 0 24.8 84768 chr4 1737542 1737542 G A rs141231740 TACC3 Nonsynonymous SNV V577M 0.003 0 0.007 0 3 0 0 2 0 0 0 0 19.77 84769 chr4 174449862 174449862 C T rs186351805 HAND2-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.18 84770 chr4 17640911 17640911 C T rs7655264 FAM184B Synonymous SNV Q876Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.2 84771 chr4 17660021 17660021 G C rs61736290 FAM184B Nonsynonymous SNV H663Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.254 84772 chr4 17666254 17666254 G A rs61742649 FAM184B Nonsynonymous SNV S542L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.79 84773 chr4 1806131 1806131 T C rs17881656 FGFR3 Nonsynonymous SNV F384L 0.016 0.008 0.014 4 19 3 0.01 4 0 0 0 0 Benign/Likely benign 12.67 84774 chr4 184240770 184240770 A G rs766023424 CLDN22 Nonsynonymous SNV V201A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84775 chr4 2306091 2306091 T C ZFYVE28 Nonsynonymous SNV Q629R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 84776 chr4 25028506 25028506 A G rs768990897 LGI2 Nonsynonymous SNV F109L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 84777 chr4 36109212 36109212 G A rs543024897 ARAP2 Synonymous SNV T1420T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.2 84778 chr4 36163128 36163128 G A rs16991960 ARAP2 Synonymous SNV L740L 0.016 0.018 0.007 6 19 7 0.015 2 0 1 0 0 10.87 84779 chr4 36283390 36283390 G A rs147471410 DTHD1 Nonsynonymous SNV E4K 0 0 0.014 0 0 0 0 4 0 0 0 0 8.753 84780 chr4 38799459 38799467 TGAAATTTT - rs763936956 TLR1 K329_F331del 0 0 0.003 0 0 0 0 1 0 0 0 0 84781 chr4 42895332 42895332 C T rs762049276 GRXCR1 Nonsynonymous SNV R17W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 84782 chr4 47916346 47916346 C G rs6826122 LOC101927157 0 0 0.347 0 0 0 0 102 0 0 50 0 8.272 84783 chr4 48384676 48384676 A G rs375732965 SLAIN2 Synonymous SNV E318E 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 3.894 84784 chr4 56831979 56831981 AAG - rs374626758 CEP135 E335del 0.014 0.008 0.007 7 16 3 0.018 2 0 0 0 0 84785 chr4 5857909 5857909 C G rs114376030 CRMP1 Nonsynonymous SNV G261R 0.005 0.01 0.007 3 6 4 0.008 2 0 0 0 0 Benign 24.7 84786 chr4 5891368 5891368 T C rs79481759 CRMP1 Nonsynonymous SNV N6S 0.005 0.01 0.01 3 6 4 0.008 3 0 0 0 0 3.814 84787 chr4 62598548 62598548 G A rs191915391 ADGRL3 Synonymous SNV A152A 0.009 0.01 0.02 4 10 4 0.01 6 0 0 0 0 9.4 84788 chr4 6600015 6600015 C G rs149169745 MAN2B2 Nonsynonymous SNV R396G 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 1.066 84789 chr4 71067978 71067978 A G rs538492779 ODAM Nonsynonymous SNV I194V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 84790 chr4 71347422 71347422 G A rs41436144 MUC7 Nonsynonymous SNV D321N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.359 84791 chr4 7840305 7840305 C T rs376106763 AFAP1 Synonymous SNV T224T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 84792 chr4 78694299 78694299 A G rs760211826 CNOT6L Synonymous SNV N112N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.853 84793 chr4 79188027 79188027 A G rs6848030 FRAS1 Nonsynonymous SNV I243V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.001 84794 chr4 79205589 79205589 C A rs6838959 FRAS1 Nonsynonymous SNV S429Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 26.7 84795 chr4 79369235 79369235 T C rs76472539 FRAS1 Synonymous SNV S2013S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.095 84796 chr4 79369448 79369448 C T rs114956797 FRAS1 Synonymous SNV N2084N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 9.553 84797 chr4 79373353 79373353 C T rs114373602 FRAS1 Nonsynonymous SNV T2203I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.12 84798 chr4 79373436 79373436 G A rs76623027 FRAS1 Nonsynonymous SNV G2231R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 10.65 84799 chr4 79373499 79373499 G A rs78404051 FRAS1 Nonsynonymous SNV A2252T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.056 84800 chr4 8609087 8609087 - AG rs780023309 CPZ Stop gain Y377* 0 0 0.003 0 0 0 0 1 0 0 0 0 84801 chr4 88537073 88537099 AGCAGTGACAGCAGCAATAGCAGTGAC - DSPP N1092_S1100del 0 0 0.017 0 0 0 0 5 0 0 2 0 84802 chr4 95223376 95223376 A G rs770974567 HPGDS Nonsynonymous SNV L119P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24.9 84803 chr4 9943536 9943536 C G SLC2A9 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 84804 chr5 111755620 111755620 G A rs183494093 EPB41L4A-DT 0 0 0.027 0 0 0 0 8 0 0 0 0 8.797 84805 chr5 111756062 111756062 G C rs56239103 EPB41L4A-DT 0 0 0.078 0 0 0 0 23 0 0 1 0 9.164 84806 chr5 115394570 115394570 C T rs74335010 ARL14EPL Nonsynonymous SNV R129W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 28.8 84807 chr5 122435540 122435540 A G rs139705595 PRDM6 Nonsynonymous SNV I262V 0.019 0.005 0.02 7 22 2 0.018 6 0 0 0 0 13.14 84808 chr5 122720737 122720737 C T rs75289011 CEP120 Synonymous SNV L531L 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Benign 16.38 84809 chr5 132096578 132096578 C G rs753567516 SEPTIN8 Nonsynonymous SNV R401P 0 0 0.003 0 0 0 0 1 0 0 0 0 34 84810 chr5 134193061 134193061 G T rs563305516 C5orf24 Nonsynonymous SNV A148S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 84811 chr5 135469500 135469500 C T rs3764942 SMAD5-AS1 0 0 0.065 0 0 0 0 19 0 0 2 0 17.39 84812 chr5 135469727 135469729 GGG - rs10544057 SMAD5-AS1 0 0 0.371 0 0 0 0 109 0 0 50 0 84813 chr5 135469737 135469737 G T rs548522421 SMAD5-AS1 0 0 0.357 0 0 0 0 105 0 0 47 0 1.072 84814 chr5 138209128 138209128 A G rs149877566 LRRTM2 Synonymous SNV Y374Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 84815 chr5 138727875 138727875 - C PROB1 Frameshift insertion L966Afs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 84816 chr5 138727881 138727881 - ACGGT PROB1 Frameshift insertion P964Tfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 84817 chr5 138727884 138727884 T A PROB1 Nonsynonymous SNV S963C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 84818 chr5 138727887 138727887 - TCA PROB1 Stop gain G962_L1015del 0 0 0.003 0 0 0 0 1 0 0 0 0 84819 chr5 138727891 138727891 G A PROB1 Synonymous SNV A960A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.357 84820 chr5 138727892 138727892 G C PROB1 Nonsynonymous SNV A960G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.79 84821 chr5 140255396 140255396 G T rs112377727 PCDHA12 Synonymous SNV P113P 0.005 0.01 0.014 0 6 4 0 4 0 0 0 0 10.7 84822 chr5 140619946 140619946 C T rs782531275 PCDHB19P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.96 84823 chr5 143059433 143059433 T C rs2042253 MIR5197 0 0 0.228 0 0 0 0 67 0 0 6 0 5.432 84824 chr5 150276370 150276370 A T ZNF300 Nonsynonymous SNV L108H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 84825 chr5 157075846 157075846 G A rs56278697 SOX30 Synonymous SNV N342N 0.014 0.01 0.024 5 16 4 0.013 7 0 0 0 0 9.31 84826 chr5 167929035 167929035 G A rs62385662 RARS1 Nonsynonymous SNV V328I 0.003 0.008 0.02 0 3 3 0 6 0 0 0 0 Benign 8.225 84827 chr5 169145778 169145778 G A rs200305228 DOCK2 Synonymous SNV S750S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.87 84828 chr5 177022364 177022364 G A rs200819997 TMED9 Nonsynonymous SNV V219I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.22 84829 chr5 177419834 177419834 G A rs146547260 PROP1 Nonsynonymous SNV A186V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.78 84830 chr5 177613544 177613544 C T rs2961663 GMCL2 Nonsynonymous SNV G253S 0 0 0.065 0 0 0 0 19 0 0 2 0 5.791 84831 chr5 177613836 177613836 C T rs2961664 GMCL2 Synonymous SNV Q155Q 0 0 0.065 0 0 0 0 19 0 0 2 0 8.738 84832 chr5 180278091 180278091 T C rs199942165 ZFP62 Nonsynonymous SNV N135S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.458 84833 chr5 33891937 33891937 G A rs80136265 ADAMTS12 Nonsynonymous SNV L9F 0.009 0.018 0.014 2 11 7 0.005 4 0 0 0 0 23.8 84834 chr5 36037996 36037996 G A rs147315371 UGT3A2 Stop gain R366X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 84835 chr5 43018575 43018575 A G rs4092294 LOC648987 0 0 0.082 0 0 0 0 24 0 0 12 0 1.903 84836 chr5 63509464 63509464 A C rs370850914 RNF180 Nonsynonymous SNV K104T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 84837 chr5 71494841 71494846 TATGAC - rs770427959 MAP1B D1762_Y1763del 0 0 0.003 0 0 0 0 1 0 0 0 0 84838 chr5 74091963 74091963 T C rs755472182 FAM169A Synonymous SNV E384E 0 0 0.007 0 0 0 0 2 0 0 0 0 5.272 84839 chr5 79950708 79950708 T C rs2405875 MSH3 Synonymous SNV A54A 0.015 0.008 0.017 6 18 3 0.015 5 1 0 0 0 Benign 4.221 84840 chr5 89990155 89990155 C T rs201733037 ADGRV1 Nonsynonymous SNV P2528S 0.009 0.003 0.01 2 10 1 0.005 3 0 0 0 0 Benign/Likely benign 19.12 84841 chr6 108668195 108668195 T C rs775252035 AFG1L Nonsynonymous SNV F123L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 22.6 84842 chr6 10874852 10874852 A G rs73440491 GCM2 Synonymous SNV P299P 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 Benign/Likely benign 0.724 84843 chr6 110778013 110778013 C T rs535206254 SLC22A16 Synonymous SNV T87T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 84844 chr6 117631291 117631291 A G rs145358991 ROS1 Synonymous SNV A2129A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 10.81 84845 chr6 12164467 12164467 G A rs201498695 HIVEP1 Nonsynonymous SNV V2644M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 84846 chr6 125231246 125231246 T A rs1750578 RNF217-AS1 0 0 0.146 0 0 0 0 43 0 0 21 0 6.062 84847 chr6 125404072 125404072 A G rs138988779 RNF217 Nonsynonymous SNV M540V 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 15.14 84848 chr6 126295959 126295996 GGTTTGTCAATCATCTCTTTACTTTCTATTTTAGGATG - rs756881997 HINT3 M131Vfs*45 0.003 0 0.007 0 3 0 0 2 0 0 0 0 84849 chr6 128388820 128388820 C T rs150460178 PTPRK Synonymous SNV P538P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.63 84850 chr6 129601231 129601231 C T rs118147866 LAMA2 Nonsynonymous SNV R826W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 84851 chr6 134350417 134350417 G A rs777381997 SLC2A12 Synonymous SNV A182A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.556 84852 chr6 157100396 157100396 - CGC rs572236007 ARID1B P450_S451insP 0.008 0.005 0.071 1 9 2 0.003 21 2 0 0 0 84853 chr6 159291201 159291201 C A rs41267749 C6orf99 0 0 0.007 0 0 0 0 2 0 0 0 0 10.08 84854 chr6 166401184 166401184 C A rs149064961 LINC00473, LINC00602 0 0 0.01 0 0 0 0 3 0 0 0 0 16.25 84855 chr6 166401465 166401466 GT - rs371673740 LINC00473, LINC00602 0 0 0.017 0 0 0 0 5 0 0 0 0 84856 chr6 168363172 168363172 G A rs141410347 AFDN Synonymous SNV A1607A 0.015 0.01 0.024 4 18 4 0.01 7 0 0 0 0 11.08 84857 chr6 170564032 170564046 TGGAATGCAGCTCCT - rs149953880 LOC154449 0 0 0.003 0 0 0 0 1 0 0 0 0 84858 chr6 17850647 17850647 C T rs145411488 KIF13A Synonymous SNV T208T 0.005 0.008 0.024 0 6 3 0 7 0 0 1 0 Benign 18.19 84859 chr6 24175021 24175021 T A rs9460973 DCDC2 Nonsynonymous SNV K456N 0.013 0.023 0.044 4 15 9 0.01 13 0 0 1 0 Benign 24.6 84860 chr6 25826737 25826737 T G SLC17A1 Synonymous SNV P53P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.527 84861 chr6 26392905 26392905 C T rs62617840 BTN2A2 Nonsynonymous SNV R218W 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 23.6 84862 chr6 27730475 27730475 G A rs897424867 LOC100131289 0 0 0.003 0 0 0 0 1 0 0 0 0 1.611 84863 chr6 27805938 27805938 G C rs146250974 H2AC15 Synonymous SNV T60T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.852 84864 chr6 3083448 3083448 C T RIPK1 Nonsynonymous SNV H151Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 84865 chr6 32627785 32627785 G A rs1764 HLA-DQB1-AS1 0 0 0.061 0 0 0 0 18 0 0 8 0 3.488 84866 chr6 3456602 3456602 C T rs373921448 SLC22A23 Synonymous SNV P64P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.17 84867 chr6 38702345 38702345 A G DNAH8 Nonsynonymous SNV I19V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 84868 chr6 42096413 42096413 C T rs768243605 C6orf132 Synonymous SNV P83P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 84869 chr6 43034238 43034238 C T rs144314636 KLC4 Nonsynonymous SNV L179F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 84870 chr6 43589417 43589417 G A rs72859026 GTPBP2 Synonymous SNV G493G 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 8.943 84871 chr6 56495073 56495073 A T DST Nonsynonymous SNV N880K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 84872 chr6 74481186 74481186 C T rs41266745 CD109 Nonsynonymous SNV P493L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.3 84873 chr6 86197163 86197163 C T rs200648774 NT5E Nonsynonymous SNV R354C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 84874 chr6 89554137 89554137 T C rs201214592 RNGTT Nonsynonymous SNV K343R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 84875 chr6 90472201 90472201 T G rs115554135 MDN1 Synonymous SNV A731A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 84876 chr6 99283493 99283493 G T rs1039199515 POU3F2 Synonymous SNV P248P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.294 84877 chr7 100230633 100230633 G C rs151198873 TFR2 Nonsynonymous SNV F109L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.91 84878 chr7 106685576 106685576 A C PRKAR2B Nonsynonymous SNV N75T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 84879 chr7 114270015 114270015 A G rs146945410 FOXP2 Synonymous SNV Q184Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 0.196 84880 chr7 123256453 123256453 A G rs146389595 ASB15 Nonsynonymous SNV K66E 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 12.47 84881 chr7 127892146 127892146 A G rs13306517 LEP Synonymous SNV Q25Q 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 0.009 84882 chr7 134363722 134363722 C T rs780651095 BPGM Nonsynonymous SNV A240V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 84883 chr7 135390354 135390354 C T rs775591238 SLC13A4 Nonsynonymous SNV V195I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 18.66 84884 chr7 140043239 140043239 C T rs148095556 SLC37A3 Synonymous SNV S352S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 84885 chr7 143807294 143807294 G A rs770732468 OR2A2 Nonsynonymous SNV V207I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.105 84886 chr7 149462055 149462055 G A rs863021 ZNF467 Synonymous SNV S512S 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 9.315 84887 chr7 149502657 149502657 C T rs199913741 SSPO 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 18.87 84888 chr7 150920891 150920891 G A rs41273648 ABCF2, LOC114483834 Synonymous SNV L199L 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 10.91 84889 chr7 154767515 154767515 G C rs191641012 PAXIP1 Nonsynonymous SNV S322C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 24.3 84890 chr7 156432793 156432793 A T rs76141520 LINC01006 0 0 0.044 0 0 0 0 13 0 0 0 0 0.173 84891 chr7 1588270 1588270 G A rs138119265 TMEM184A Synonymous SNV L233L 0.013 0.013 0.017 2 15 5 0.005 5 0 0 0 0 11.27 84892 chr7 20824044 20824052 GCCGCCGCC - rs367927423 SP8 G462_G464del 0 0 0.003 0 0 0 0 1 0 0 0 0 84893 chr7 2649765 2649765 C T rs77267206 IQCE Nonsynonymous SNV P621L 0.01 0.005 0.017 3 12 2 0.008 5 0 0 0 0 25.8 84894 chr7 26578283 26578283 G A rs55970331 KIAA0087, LOC441204 0 0 0.041 0 0 0 0 12 0 0 0 0 6.315 84895 chr7 29103771 29103771 G C rs145255289 CPVL Nonsynonymous SNV T170S 0.012 0.013 0.014 2 14 5 0.005 4 0 0 0 0 22.5 84896 chr7 29927689 29927689 G A rs61750795 WIPF3 Nonsynonymous SNV G369S 0.008 0.005 0.014 9 9 2 0.023 4 0 0 0 0 Benign 11.61 84897 chr7 30634582 30634582 - CTG GARS L20_P21insL 0 0 0.003 0 0 0 0 1 0 0 0 0 84898 chr7 30893075 30893075 G A MINDY4 Synonymous SNV Q559Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 84899 chr7 37889898 37889898 A G rs778106704 NME8 Synonymous SNV L10L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.109 84900 chr7 44179406 44179406 C T rs117678382 MYL7 Nonsynonymous SNV G118S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 28.8 84901 chr7 47407994 47407994 C T TNS3 Nonsynonymous SNV G750E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 84902 chr7 4799198 4799198 C T rs370318084 FOXK1 Synonymous SNV A556A 0 0 0.007 0 0 0 0 2 0 0 0 0 12.61 84903 chr7 50097728 50097728 C T rs201273041 ZPBP Nonsynonymous SNV R114H 0 0 0.007 0 0 0 0 2 0 0 0 0 19.03 84904 chr7 51095420 51095420 T C rs374999093 COBL Nonsynonymous SNV R1125G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 84905 chr7 55493090 55493090 G A rs185586029 LANCL2 Synonymous SNV T384T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 84906 chr7 75615255 75615255 - AGAC rs781914230 POR Frameshift insertion L564Dfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 84907 chr7 86781177 86781177 - T rs17515882 LOC101927420 0 0 0.139 0 0 0 0 41 0 0 20 0 84908 chr7 91503872 91503872 A C rs147741556 MTERF1 Stop gain L59X 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 36 84909 chr7 91727487 91727487 A G rs144054367 AKAP9 Nonsynonymous SNV I3558V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 84910 chr7 97821855 97821855 T C rs56204700 LMTK2 Nonsynonymous SNV I693T 0.008 0.008 0.017 5 9 3 0.013 5 1 0 0 0 13.27 84911 chr7 97823125 97823125 G A rs3801296 LMTK2 Synonymous SNV R1116R 0.007 0.008 0.017 5 8 3 0.013 5 1 0 0 0 10.94 84912 chr7 97823629 97823629 A G rs10268268 LMTK2 Synonymous SNV A1284A 0.008 0.008 0.017 5 9 3 0.013 5 1 0 0 0 2.7 84913 chr7 99526889 99526889 G A rs138596912 GJC3 Nonsynonymous SNV R119W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 24 84914 chr8 10467126 10467126 T C rs201357374 RP1L1 Synonymous SNV Q1494Q 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.004 84915 chr8 10469559 10469559 G A rs146670053 RP1L1 Synonymous SNV T683T 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.76 84916 chr8 10480470 10480470 A G rs777038712 RP1L1 Nonsynonymous SNV V81A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 84917 chr8 117886868 117886868 T A rs16889189 RAD21-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 17.99 84918 chr8 124664215 124664215 G T KLHL38 Nonsynonymous SNV L318I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 84919 chr8 144809855 144809855 G C rs77921406 FAM83H Synonymous SNV G592G 0.003 0.003 0.024 0 4 1 0 7 0 0 0 0 Benign 0.003 84920 chr8 144997577 144997577 C T rs782018578 PLEC Nonsynonymous SNV A2160T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 19.5 84921 chr8 145016657 145016657 G C rs190108480 PLEC Synonymous SNV A9A 0 0 0.007 0 0 0 0 2 0 0 0 0 5.516 84922 chr8 145748173 145748173 C T rs115500071 LRRC24 Nonsynonymous SNV A410T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 84923 chr8 146017171 146017171 A G rs1143652 RPL8 Synonymous SNV Y89Y 0.012 0.018 0.02 5 14 7 0.013 6 0 0 0 0 0.004 84924 chr8 146035750 146035750 G A rs148853028 LOC100130027 0.012 0.021 0.034 4 14 8 0.01 10 0 0 0 0 1.664 84925 chr8 146067125 146067125 C T rs35883359 ZNF7 Synonymous SNV I115I 0.014 0.029 0.037 6 17 11 0.015 11 0 0 0 0 10.85 84926 chr8 146202386 146202386 A C rs3866997 ZNF252P 0 0 0.18 0 0 0 0 53 0 0 6 0 6.189 84927 chr8 146202422 146202422 A G rs3866998 ZNF252P 0 0 0.18 0 0 0 0 53 0 0 6 0 14.83 84928 chr8 146202846 146202846 T C rs72499143 ZNF252P 0 0 0.099 0 0 0 0 29 0 0 1 0 7.599 84929 chr8 146203346 146203346 T G rs12678688 ZNF252P 0 0 0.173 0 0 0 0 51 0 0 6 0 5.288 84930 chr8 146219931 146219931 C G rs13438994 ZNF252P 0 0 0.119 0 0 0 0 35 0 0 3 0 3.502 84931 chr8 146220446 146220446 G A rs4489360 TMED10P1 0 0 0.17 0 0 0 0 50 0 0 5 0 4.899 84932 chr8 146225112 146225112 C T rs2272714 ZNF252P 0 0 0.119 0 0 0 0 35 0 0 3 0 2.546 84933 chr8 146228390 146228390 C T rs2294042 ZNF252P-AS1 0 0 0.075 0 0 0 0 22 0 0 4 0 8.024 84934 chr8 146228622 146228622 C A rs2294043 ZNF252P-AS1 0 0 0.17 0 0 0 0 50 0 0 5 0 8.857 84935 chr8 146228779 146228779 T A rs77308683 ZNF252P-AS1 0 0 0.105 0 0 0 0 31 0 0 1 0 8.786 84936 chr8 17513484 17513484 T C rs61733708 MTUS1 Nonsynonymous SNV E71G 0.007 0.005 0.017 0 8 2 0 5 0 0 0 0 Benign 23.9 84937 chr8 1765425 1765425 T C rs61388742 MIR596 0 0 0.099 0 0 0 0 29 0 0 1 0 5.274 84938 chr12 101732670 101732670 C T rs11110755 UTP20 Synonymous SNV S1316S 0.012 0.005 0.01 3 14 2 0.008 3 0 0 0 0 15.78 84939 chr8 20110406 20110406 G C rs148775156 LZTS1 Nonsynonymous SNV R346G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 27.6 84940 chr8 22462346 22462346 T G rs11555543 LOC107986876 0.013 0.008 0.037 8 15 3 0.021 11 2 0 0 1 18.51 84941 chr12 109617001 109617001 C T rs148626162 ACACB Synonymous SNV L516L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.61 84942 chr2 210837969 210837969 G A UNC80 Synonymous SNV E2788E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 84943 chr2 215847065 215847065 T C ABCA12 Synonymous SNV R1157R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.199 84944 chr8 30032707 30032707 - TC rs766273768 DCTN6 0 0 0.003 0 0 0 0 1 0 0 0 0 84945 chr8 3263686 3263686 C T CSMD1 Nonsynonymous SNV G710D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 84946 chr12 119563193 119563193 A T rs987021581 SRRM4 Nonsynonymous SNV S175C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.2 84947 chr12 120499607 120499607 C T rs200961835 BICDL1 Nonsynonymous SNV R247W 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 34 84948 chr8 53543090 53543090 - A rs57977265 RB1CC1 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 84949 chr8 56365599 56365599 A G rs557416829 SBF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 14.28 84950 chr8 57358432 57358432 G A rs3808633 PENK Synonymous SNV S27S 0.011 0.013 0.024 8 13 5 0.021 7 0 0 1 0 20.6 84951 chr8 57358626 57358626 G T rs112583236 LOC101929415 0 0 0.041 0 0 0 0 12 0 0 1 0 7.082 84952 chr12 124093347 124093347 C T rs748427120 DDX55 Synonymous SNV D174D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.43 84953 chr12 124242557 124242557 A G rs75279884 ATP6V0A2 Nonsynonymous SNV N850S 0.008 0.013 0.017 4 9 5 0.01 5 0 0 0 0 Benign 0.001 84954 chr2 227660213 227660213 C T rs372681714 IRS1 Nonsynonymous SNV R1081H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.23 84955 chr11 88027420 88027420 G A rs45558734 CTSC Synonymous SNV H382H 0.007 0.01 0.003 5 8 4 0.013 1 0 0 0 0 Benign/Likely benign 5.278 84956 chr11 9168691 9168691 A G rs751836901 DENND5A Nonsynonymous SNV Y891H 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 29.5 84957 chr11 9225661 9225661 A G DENND5A Synonymous SNV H141H 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 2.25 84958 chr8 8999019 8999019 C T rs3748140 PPP1R3B Nonsynonymous SNV G48E 0.009 0.023 0.017 5 11 9 0.013 5 0 0 0 0 11.6 84959 chr8 92212981 92212981 C T rs938313694 LRRC69 Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 84960 chr8 94752754 94752754 G A rs3813853 RBM12B-AS1 0 0 0.272 0 0 0 0 80 0 0 12 0 13.71 84961 chr12 133252700 133252700 - A POLE Frameshift insertion V334Cfs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 84962 chr2 232653358 232653358 C T rs11557625 COPS7B Synonymous SNV A26A 0.029 0.031 0.027 17 34 12 0.044 8 0 0 0 0 17.26 84963 chr12 101017811 101017811 A C rs57012630 GAS2L3 Nonsynonymous SNV N410H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.06 84964 chr11 65735014 65735014 G A rs61740577 SART1 Synonymous SNV P462P 0.013 0.016 0.007 4 15 6 0.01 2 0 0 0 0 9.769 84965 chr9 104187304 104187304 C T rs770692295 ALDOB Nonsynonymous SNV G274S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 84966 chr12 15650213 15650213 C T PTPRO Synonymous SNV D128D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.98 84967 chr11 6654284 6654284 C T rs149774310 DCHS1 Nonsynonymous SNV R820H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 84968 chr9 112898576 112898576 C T rs151065500 PALM2-AKAP2 Nonsynonymous SNV P109L 0.012 0.021 0.034 3 14 8 0.008 10 0 0 0 0 Benign 17.16 84969 chr9 112899034 112899034 C T rs115538409 PALM2-AKAP2 Synonymous SNV L262L 0.012 0.021 0.034 3 14 8 0.008 10 0 0 0 0 Benign 7.118 84970 chr12 108686316 108686316 G A rs61740671 CMKLR1 Nonsynonymous SNV L142F 0.02 0.018 0.027 4 23 7 0.01 8 0 0 0 0 21.4 84971 chr12 6103650 6103650 G A rs61750615 VWF Nonsynonymous SNV P2063S 0.011 0.018 0.027 5 13 7 0.013 8 0 0 0 0 Benign/Likely benign 26.9 84972 chr12 57140729 57140729 C T rs201276969 PRIM1 Nonsynonymous SNV D117N 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 24.9 84973 chr11 6816252 6816252 C T rs149977946 OR6A2 Nonsynonymous SNV V230M 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 25.5 84974 chr12 133306850 133306850 T C rs368378205 ANKLE2 Nonsynonymous SNV N633S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 84975 chr11 67018079 67018084 GAGGAG - rs765044939 KDM2A E426_E427del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 84976 chr12 10954646 10954646 T C TAS2R7 Nonsynonymous SNV N175S 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 0.001 84977 chr12 29689157 29689157 C T rs36070392 TMTC1 Synonymous SNV S590S 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 15.84 84978 chr12 59266479 59266479 A G LRIG3 Nonsynonymous SNV S1019P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.34 84979 chr12 6103072 6103072 C T rs2229446 VWF Nonsynonymous SNV R2185Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 35 84980 chr12 110246111 110246111 C T rs141908793 TRPV4 Synonymous SNV E183E 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Benign/Likely benign 13.05 84981 chr9 117064365 117064365 C T COL27A1 Nonsynonymous SNV P1617S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 84982 chr12 14943486 14943486 G A rs149086245 WBP11 Nonsynonymous SNV P405S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23 84983 chr12 667692 667692 T - B4GALNT3 F876Sfs*32 0 0.003 0 0 0 1 0 0 0 0 0 0 84984 chr12 62930938 62930938 C T rs77761138 MON2 Synonymous SNV S636S 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 14.83 84985 chr12 7053647 7053647 G A rs142743155 C12orf57 Nonsynonymous SNV A8T 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 24.8 84986 chr9 123280798 123280798 C T rs61758368 CDK5RAP2 Synonymous SNV Q406Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.48 84987 chr12 70954547 70954547 G A rs61754227 PTPRB Nonsynonymous SNV R1138W 0.024 0.039 0.048 10 28 15 0.026 14 0 0 1 0 25.1 84988 chr12 6664581 6664581 G A rs142794007 IFFO1 Synonymous SNV L205L 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 12.39 84989 chr12 6666718 6666718 T C rs200015157 NOP2 Nonsynonymous SNV K623R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 84990 chr3 8809162 8809162 C T rs61740241 OXTR Nonsynonymous SNV A238T 0.013 0.016 0 14 15 6 0.036 0 0 0 0 0 8.101 84991 chr12 25261759 25261759 - AAAAA rs529076651 CASC1 0.002 0.005 0 0 2 2 0 0 1 1 0 0 84992 chr3 9711141 9711141 T A rs189614064 MTMR14 Nonsynonymous SNV D173E 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Likely benign 14.18 84993 chr3 9952627 9952627 G A rs144937970 IL17RE Nonsynonymous SNV R178H 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 23.4 84994 chr11 73843993 73843993 C T rs61741635 C2CD3 Synonymous SNV R371R 0.027 0.026 0.02 10 32 10 0.026 6 0 0 0 1 Benign 9.52 84995 chr9 126247833 126247833 A G rs58605477 MIR7150 0 0 0.187 0 0 0 0 55 0 0 6 0 18.29 84996 chr9 126247896 126247896 - CCGTGTGTGTGTGTGCGC rs140297188 MIR7150 0 0 0.146 0 0 0 0 43 0 0 5 0 84997 chr9 127116169 127116169 A G rs72616651 LOC100129034 0 0 0.02 0 0 0 0 6 0 0 0 0 5.606 84998 chr11 74915572 74915572 C G rs140987364 SLCO2B1 Nonsynonymous SNV Q549E 0.001 0.005 0 6 1 2 0.015 0 0 0 0 0 11.89 84999 chr3 10401576 10401576 C T rs61736451 ATP2B2 Nonsynonymous SNV V586M 0.008 0.008 0.003 5 9 3 0.013 1 0 0 0 0 Benign 25.9 85000 chr12 81062818 81062818 T A PTPRQ Synonymous SNV T1903T 0 0.005 0 0 0 2 0 0 0 0 0 0 11.09 85001 chr11 75599920 75599920 A G rs147603771 UVRAG Synonymous SNV G160G 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 7.111 85002 chr12 7459261 7459261 C T rs199647550 ACSM4 Stop gain Q112X 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 36 85003 chr3 13363220 13363222 GGA - NUP210 S1677del 0.001 0 0 0 1 0 0 0 0 0 0 0 85004 chr12 122398608 122398608 G T rs764930594 WDR66 Nonsynonymous SNV V751F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 26.2 85005 chr12 3782630 3782630 A T rs144274217 CRACR2A Nonsynonymous SNV L218Q 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 25.6 85006 chr12 78362440 78362440 C T rs34195711 NAV3 Nonsynonymous SNV S210L 0.009 0.026 0.003 5 11 10 0.013 1 0 0 0 0 14.99 85007 chr12 123798209 123798209 T C rs61760910 SBNO1 Nonsynonymous SNV M1060V 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 13.02 85008 chr9 13133832 13133832 C T rs915444766 MPDZ Synonymous SNV E1452E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 85009 chr12 91449852 91449852 A G rs35693771 KERA Synonymous SNV I69I 0.014 0.029 0.007 0 17 11 0 2 0 1 0 0 2.339 85010 chr11 8289977 8289977 C A LMO1 Nonsynonymous SNV D7Y 0.005 0.013 0 8 6 5 0.021 0 0 0 0 0 19.81 85011 chr11 78413004 78413004 C T rs199784483 TENM4 Nonsynonymous SNV V1552M 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 23.9 85012 chr3 15071948 15071948 G A rs145430192 NR2C2 Nonsynonymous SNV V367I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 85013 chr12 45810667 45810667 A G rs372364478 ANO6 Nonsynonymous SNV I733V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.887 85014 chr12 124416640 124416640 C T rs149280453 DNAH10 Synonymous SNV S4309S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 16.23 85015 chr12 47172417 47172417 A G rs77503738 SLC38A4 Nonsynonymous SNV M287T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.73 85016 chr9 132565494 132565494 G A rs375663995 TOR1B Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 85017 chr11 8119298 8119298 A G rs55892969 TUB Nonsynonymous SNV K308R 0.009 0.01 0.003 7 10 4 0.018 1 0 0 0 0 29 85018 chr12 94132057 94132057 G T rs6538449 CRADD Nonsynonymous SNV G127V 0.005 0.01 0.01 1 6 4 0.003 3 0 0 0 0 3.267 85019 chr11 8132421 8132421 C T rs116932252 RIC3 Nonsynonymous SNV D130N 0.006 0.01 0 6 7 4 0.015 0 0 0 0 0 22.5 85020 chr11 82536108 82536108 G C rs2228312 PRCP Nonsynonymous SNV T339S 0.036 0.044 0.01 19 42 17 0.049 3 2 0 0 0 12.73 85021 chr12 48172967 48172967 C G rs368470521 SLC48A1 Nonsynonymous SNV T98S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 85022 chr3 28566038 28566038 A G rs142286195 ZCWPW2 Synonymous SNV E248E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.623 85023 chr12 89917734 89917734 A G GALNT4, POC1B-GALNT4 Nonsynonymous SNV L198S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.7 85024 chr12 12672899 12672899 G A rs375416810 DUSP16 Synonymous SNV Y88Y 0.006 0 0 3 7 0 0.008 0 0 0 0 0 9.942 85025 chr12 974498 974498 C T rs72649848 WNK1 Nonsynonymous SNV R788C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.22 85026 chr12 53497959 53497959 C T rs369175658 SOAT2 Nonsynonymous SNV P36L 0.003 0.005 0 1 4 2 0.003 0 0 1 0 0 16.91 85027 chr12 130827152 130827152 C T PIWIL1 Stop gain R6X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 85028 chr3 35780947 35780947 G A rs151173813 ARPP21 Nonsynonymous SNV A576T 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 18.87 85029 chr9 135263541 135263541 A G rs200634710 TTF1 Nonsynonymous SNV V251A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 85030 chr12 9317897 9317897 G A rs745393431 PZP Synonymous SNV A775A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.805 85031 chr13 100635007 100635007 - CCACCA ZIC2 H239_P240insHH 0 0.003 0 0 0 1 0 0 0 0 0 0 85032 chr13 101258623 101258623 T C rs61730956 TMTC4 Nonsynonymous SNV H578R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 85033 chr2 80097000 80097000 G A rs745722142 CTNNA2 Nonsynonymous SNV R175H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 85034 chr13 101266646 101266646 C T rs55952539 TMTC4 Synonymous SNV A495A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.99 85035 chr9 135975698 135975698 C T rs35200098 RALGDS Synonymous SNV E787E 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 Benign 9.57 85036 chr12 54963389 54963389 G A rs373914778 PDE1B Nonsynonymous SNV C137Y 0.003 0.008 0 0 4 3 0 0 0 1 0 0 23.6 85037 chr9 136029336 136029336 C T rs143311339 GBGT1 Stop gain W218X 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 11.55 85038 chr12 132538094 132538094 A G EP400 Synonymous SNV P2560P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.231 85039 chr12 55794531 55794531 A G rs142121934 OR6C65 Synonymous SNV T73T 0.006 0.005 0 1 7 2 0.003 0 0 1 0 0 0.254 85040 chr12 132633435 132633435 - CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC NOC4L Frameshift insertion G302Efs*23 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 85041 chr11 94278863 94278863 C T rs377261715 FUT4 Nonsynonymous SNV R522W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 85042 chr2 85786074 85786074 G A rs6751560 GGCX Synonymous SNV D56D 0.022 0.021 0.027 7 26 8 0.018 8 0 0 0 0 Benign 8.367 85043 chr11 9459446 9459446 G A rs537526514 IPO7 Nonsynonymous SNV R805H 0.005 0.01 0 8 6 4 0.021 0 0 0 0 0 23.4 85044 chr12 56601998 56601998 G A rs17118378 RNF41 Synonymous SNV I149I 0.003 0.005 0 0 4 2 0 0 0 1 0 0 Benign 17.65 85045 chr11 94731891 94731891 G T rs139448748 KDM4D Nonsynonymous SNV G452V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.51 85046 chr12 56755422 56755422 C T rs371818432 APOF Nonsynonymous SNV G190R 0.003 0.005 0 0 4 2 0 0 0 1 0 0 17.23 85047 chr12 133779327 133779327 G T rs200677881 ZNF268 Nonsynonymous SNV R352I 0.004 0 0 0 5 0 0 0 0 0 0 0 23.3 85048 chr12 57638935 57638935 G A rs368118525 STAC3 Synonymous SNV P35P 0.003 0.005 0 0 4 2 0 0 0 1 0 0 Likely benign 9.608 85049 chr13 101763529 101763529 G A rs79264337 NALCN Synonymous SNV P718P 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Benign/Likely benign 12.67 85050 chr2 96789973 96789973 C T rs183967306 ASTL Synonymous SNV P304P 0.008 0.026 0.007 2 9 10 0.005 2 0 0 0 0 9.747 85051 chr11 972226 972226 C T rs777134957 AP2A2 Synonymous SNV A148A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.18 85052 chr12 52448457 52448457 C T rs148200420 NR4A1 Synonymous SNV P115P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.67 85053 chr12 18891466 18891466 C A rs369230199 CAPZA3 Nonsynonymous SNV S88R 0.008 0 0 2 9 0 0.005 0 0 0 0 0 16.12 85054 chr12 64196045 64196045 C T rs146732392 RXYLT1 Synonymous SNV L201L 0.006 0.005 0.003 0 7 2 0 1 0 1 0 0 Benign 12.01 85055 chr13 103396488 103396488 G A rs373943118 CCDC168 Nonsynonymous SNV R2187C 0 0.003 0 0 0 1 0 0 0 0 0 0 4.501 85056 chr13 111532288 111532288 G A rs3742185 ANKRD10 Nonsynonymous SNV P320L 0.028 0.029 0.034 10 33 11 0.026 10 0 0 0 0 0.356 85057 chr13 111932913 111932913 G A rs41275846 ARHGEF7 Synonymous SNV S303S 0.034 0.039 0.058 20 40 15 0.051 17 0 1 0 0 5.83 85058 chr2 99006191 99006191 G A rs919729482 CNGA3 Nonsynonymous SNV A156T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 85059 chr9 139728202 139728202 T G rs187468519 RABL6 Nonsynonymous SNV C246G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.325 85060 chr13 113735585 113735585 G A rs146542168 MCF2L Nonsynonymous SNV V585I 0.01 0.005 0 0 12 2 0 0 0 0 0 0 21.5 85061 chr12 21453492 21453492 T G rs747322135 SLCO1A2 Nonsynonymous SNV I234L 0.008 0.003 0 6 9 1 0.015 0 0 0 0 0 28.3 85062 chr9 139934887 139934887 G A rs140988877 NPDC1 Nonsynonymous SNV P237L 0 0 0.007 0 0 0 0 2 0 0 0 0 27.4 85063 chr13 110833688 110833688 C T rs199573161 COL4A1 Nonsynonymous SNV R715H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 24.9 85064 chr13 20399156 20399156 A G rs201812068 ZMYM5 Nonsynonymous SNV S491P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 85065 chr9 140136439 140136439 C T rs139337044 TUBB4B Synonymous SNV F81F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.62 85066 chr9 140145505 140145505 C G rs9695304 STPG3-AS1 0 0 0.548 0 0 0 0 161 0 0 79 0 1.58 85067 chr2 106721255 106721255 G A rs56197411 UXS1 Synonymous SNV Y133Y 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 11.12 85068 chr13 111367957 111367957 T C ING1 Nonsynonymous SNV V56A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 15.18 85069 chr2 109067508 109067508 C A rs148209837 GCC2 Nonsynonymous SNV L30I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.7 85070 chr9 140323373 140323373 C A rs77546115 NOXA1 Nonsynonymous SNV L137I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.2 85071 chr9 140372570 140372570 G A rs3812499 PNPLA7 Nonsynonymous SNV P908L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 85072 chr9 140449786 140449786 C T rs765238916 DPH7 Nonsynonymous SNV V288M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.122 85073 chr12 109182283 109182283 G A rs138260620 SSH1 Synonymous SNV A877A 0.003 0 0 0 4 0 0 0 0 0 0 0 3.276 85074 chr13 114322394 114322394 C T rs62621170 GRK1 Synonymous SNV G231G 0.009 0.016 0.003 7 10 6 0.018 1 0 0 0 0 7.735 85075 chr12 55725974 55725974 G C rs73324778 OR6C3 Nonsynonymous SNV D164H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 85076 chr13 20224375 20224375 C T rs758740100 MPHOSPH8 Synonymous SNV S517S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.34 85077 chr9 18777842 18777842 C T rs530684002 ADAMTSL1 Synonymous SNV I1205I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.426 85078 chr12 56031382 56031382 G A rs140326016 OR10P1 Nonsynonymous SNV R236H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 85079 chr3 49050499 49050499 G A rs142520902 WDR6 Nonsynonymous SNV R485H 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 29.6 85080 chr13 28552552 28552552 C T rs781678889 URAD Synonymous SNV A71A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 85081 chr12 39047684 39047684 T A CPNE8 X565C 0.003 0 0 0 3 0 0 0 0 0 0 0 14.78 85082 chr12 56398778 56398778 C G rs748392635 SUOX Synonymous SNV A535A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.999 85083 chr9 21077767 21077767 G C rs139262191 IFNB1 Nonsynonymous SNV S34R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 85084 chr9 21333962 21333962 G C KLHL9 Nonsynonymous SNV H299Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.04 85085 chr9 21350701 21350701 G A rs61736257 IFNA6 Synonymous SNV P62P 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 4.657 85086 chr9 21350709 21350709 T C rs201824804 IFNA6 Nonsynonymous SNV R60G 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.001 85087 chr9 21350710 21350710 G A rs200999463 IFNA6 Synonymous SNV F59F 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 1.178 85088 chr9 21350731 21350731 A G rs61736255 IFNA6 Synonymous SNV C52C 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 2.642 85089 chr9 21350741 21350741 A G rs61736254 IFNA6 Nonsynonymous SNV L49P 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.289 85090 chr9 214847 214847 A C rs80013679 DOCK8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 85091 chr13 23909780 23909780 T C SACS Synonymous SNV E2598E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.134 85092 chr3 50308791 50308791 G - rs782007810 SEMA3B 0.001 0 0 0 1 0 0 0 0 0 0 0 85093 chr3 50339643 50339643 G A rs138951582 HYAL1 Nonsynonymous SNV P249S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.908 85094 chr9 2645719 2645719 C T rs6143 VLDLR Synonymous SNV A445A 0.007 0.008 0.01 1 8 3 0.003 3 0 0 0 0 Benign/Likely benign 20.5 85095 chr9 2651454 2651454 C T rs56737058 VLDLR Nonsynonymous SNV T723M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 22.8 85096 chr2 128388390 128388390 C T rs376500341 MYO7B Nonsynonymous SNV A1589V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.553 85097 chr12 57587056 57587056 G A rs138348495 LRP1 Synonymous SNV K2551K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 13.06 85098 chr12 8200766 8200766 C T rs61753349 FOXJ2 Nonsynonymous SNV P369L 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 22.8 85099 chr12 57619359 57619359 C T rs17854829 NXPH4 Synonymous SNV D252D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 13.09 85100 chr13 39587238 39587238 C T rs779195167 PROSER1 Synonymous SNV P695P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.36 85101 chr12 57626018 57626018 C T rs11557166 SHMT2 Synonymous SNV D179D 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 17.72 85102 chr12 57640620 57640620 C T rs76667525 STAC3 Synonymous SNV K4K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 14.8 85103 chr13 42295698 42295698 G A rs201920223 VWA8 Synonymous SNV S924S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.7 85104 chr12 48373798 48373798 G C rs41272029 COL2A1 Synonymous SNV G822G 0.006 0.008 0.003 5 7 3 0.013 1 0 0 0 0 Benign 7.155 85105 chr12 58019495 58019495 C T rs774894 SLC26A10 Synonymous SNV S553S 0.023 0.018 0.014 7 27 7 0.018 4 2 0 0 0 10.77 85106 chr12 58024278 58024278 C G rs810205 B4GALNT1 Nonsynonymous SNV G117R 0.023 0.018 0.014 7 27 7 0.018 4 2 0 0 0 Benign 15.02 85107 chr12 48379731 48379731 G T rs41317925 COL2A1 Synonymous SNV R446R 0.009 0.023 0.007 2 11 9 0.005 2 0 0 0 0 Benign/Likely benign 10.22 85108 chr12 9006810 9006810 C T rs199651558 A2ML1 Stop gain R402X 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 85109 chr13 42875089 42875089 C T rs79681827 AKAP11 Nonsynonymous SNV S736L 0.005 0.01 0.01 3 6 4 0.008 3 0 0 0 0 2.759 85110 chr13 45008147 45008147 T C rs41288339 TSC22D1 Nonsynonymous SNV Y556C 0.02 0.013 0.014 7 24 5 0.018 4 0 0 0 0 13.81 85111 chr9 35397228 35397228 A G rs370999495 UNC13B Nonsynonymous SNV N747S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 85112 chr12 120067562 120067562 G A rs751638814 TMEM233 Nonsynonymous SNV G70R 0 0 0 1 0 0 0.003 0 0 0 0 0 28 85113 chr2 136874237 136874237 C T rs117273229 CXCR4 Nonsynonymous SNV V13I 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 12.32 85114 chr9 35616618 35616618 C T CD72 Nonsynonymous SNV A111T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 85115 chr12 120650365 120650365 C T rs149061964 PXN Nonsynonymous SNV V524M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.49 85116 chr13 48985639 48985639 C A rs17071686 LPAR6 Nonsynonymous SNV W307C 0.003 0.01 0.007 0 3 4 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.23 85117 chr12 49993766 49993766 C G rs12299908 FAM186B Nonsynonymous SNV E553Q 0.022 0.021 0.02 9 26 8 0.023 6 0 1 0 0 14.59 85118 chr12 49994785 49994785 G A rs143179540 FAM186B Nonsynonymous SNV T213M 0.019 0.016 0.017 8 22 6 0.021 5 0 1 0 0 11.51 85119 chr9 5774159 5774159 T C rs3739647 RIC1 Synonymous SNV N1358N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 85120 chr2 152717322 152717322 C T rs2293219 CACNB4 Synonymous SNV T223T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 16.03 85121 chr12 6660144 6660144 C T rs751763714 IFFO1 Nonsynonymous SNV R266Q 0.003 0 0 0 3 0 0 0 0 0 0 0 35 85122 chr9 712066 712066 A C rs34680571 KANK1 Synonymous SNV R276R 0.006 0.01 0.01 6 7 4 0.015 3 0 0 0 0 0.001 85123 chr9 72517221 72517221 T G rs373052391 C9orf135 Nonsynonymous SNV H87Q 0.009 0.016 0.003 4 10 6 0.01 1 0 0 0 0 3.589 85124 chr9 72758530 72758530 A T rs142407306 MAMDC2 Nonsynonymous SNV Y400F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 85125 chr9 79318585 79318585 G C rs17180718 PRUNE2 Synonymous SNV A2648A 0.003 0.008 0.02 1 4 3 0.003 6 0 0 0 0 4.161 85126 chr12 52776234 52776234 G A rs149169317 KRT84 Nonsynonymous SNV T300M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.2 85127 chr12 72050754 72050754 G A rs758264772 ZFC3H1 Nonsynonymous SNV T309I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.6 85128 chr13 99356627 99356627 T A rs769988592 SLC15A1 Synonymous SNV G444G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.637 85129 chr9 82336764 82336764 C T rs61746466 TLE4 Synonymous SNV R555R 0.018 0.016 0.02 3 21 6 0.008 6 0 0 0 0 15.21 85130 chr12 7640495 7640495 T C rs147948417 CD163 Nonsynonymous SNV N537D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 85131 chr13 109858974 109858974 G A MYO16 Synonymous SNV R1811R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.182 85132 chr14 100795978 100795978 C T rs139864899 SLC25A47 Nonsynonymous SNV T162I 0.009 0.013 0.003 4 10 5 0.01 1 0 0 0 0 16.99 85133 chr2 170013914 170013914 C T LRP2 Nonsynonymous SNV E3996K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 85134 chr3 97666281 97666281 G C rs117990049 RIOX2 Nonsynonymous SNV P358R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 27.6 85135 chr9 95048868 95048868 G A rs146666049 IARS1 Synonymous SNV D143D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 11.19 85136 chr9 95381025 95381025 T - rs3839884 LOC100128361 0 0 0.126 0 0 0 0 37 0 0 7 0 85137 chr2 170885953 170885953 T A UBR3 Nonsynonymous SNV N1517K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 85138 chr9 96010036 96010036 G A rs56170708 WNK2 Nonsynonymous SNV G585E 0.02 0.036 0.024 10 23 14 0.026 7 0 1 0 0 8.874 85139 chr2 171627548 171627548 G A rs962845891 ERICH2 Synonymous SNV R119R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.954 85140 chr2 172309651 172309651 T A rs3731984 DCAF17 Nonsynonymous SNV H185Q 0.009 0.005 0.024 4 11 2 0.01 7 0 0 0 0 Likely benign 13.82 85141 chr13 114059943 114059943 G A rs562119389 LOC101928841 Synonymous SNV L854L 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 7.462 85142 chr12 53647114 53647114 G A rs150771447 MFSD5 Synonymous SNV E272E 0.008 0 0 1 9 0 0.003 0 0 0 0 0 3.338 85143 chr2 176044877 176044877 T C rs372765094 ATP5MC3 Synonymous SNV R23R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.641 85144 chrM 1191 1191 T C RNR1 0 0 0.068 0 0 0 0 20 0 0 10 0 85145 chrUn_gl000220 118418 118425 CGCGCGCG - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.061 0 0 0 0 18 0 0 0 0 85146 chrUn_gl000220 118724 118724 - G RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.01 0 0 0 0 3 0 0 0 0 85147 chrUn_gl000220 122159 122159 C G LOC100507412 0 0 0.122 0 0 0 0 36 0 0 0 0 85148 chrX 100334068 100334068 T C TMEM35A Nonsynonymous SNV I26T 0 0 0.007 0 0 0 0 2 0 0 1 0 23.5 85149 chrX 100511236 100511236 G A rs143113683 DRP2 Synonymous SNV L714L 0.005 0.008 0.01 1 6 3 0.003 3 1 1 1 0 Benign 9.879 85150 chr12 132238956 132238956 G A rs150417857 SFSWAP Nonsynonymous SNV V456I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.62 85151 chr13 78475230 78475230 C T rs5352 EDNRB Nonsynonymous SNV S305N 0.017 0.016 0.003 5 20 6 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 21 85152 chr2 179431076 179431076 C G rs56307213 TTN Nonsynonymous SNV D17530H 0.009 0.013 0.017 2 10 5 0.005 5 1 0 0 0 Benign/Likely benign 19.93 85153 chr12 54394149 54394149 G A rs35784648 HOXC9 Synonymous SNV P59P 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 11.27 85154 chr12 88471681 88471681 A G rs1031513373 CEP290 Synonymous SNV D1793D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.749 85155 chr2 179452447 179452447 T C rs72646855 TTN Nonsynonymous SNV I12132V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.07 85156 chr12 13241767 13241767 C T rs149406730 GSG1 Synonymous SNV T147T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 19.44 85157 chr12 54911426 54911426 C T rs2270581 NCKAP1L Nonsynonymous SNV S352L 0.031 0.031 0.054 11 36 12 0.028 16 0 0 0 1 22.3 85158 chr2 179544983 179544983 C G rs72650040 TTN Nonsynonymous SNV R9895T 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.97 85159 chr13 21401284 21401284 C T rs142097933 XPO4 Synonymous SNV S254S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.59 85160 chr2 179579977 179579977 G A rs72648987 TTN Nonsynonymous SNV R7402C 0.008 0.021 0.027 1 9 8 0.003 8 1 0 0 0 Conflicting interpretations of pathogenicity 23.1 85161 chrX 107842019 107842019 C T COL4A5 Nonsynonymous SNV P623S 0 0 0.007 0 0 0 0 2 0 0 1 0 17.81 85162 chr12 55356823 55356823 T C rs151024475 TESPA1 Nonsynonymous SNV I78V 0.025 0.008 0.02 11 29 3 0.028 6 0 0 0 0 12.26 85163 chr13 98671883 98671883 C T rs145372207 IPO5 Nonsynonymous SNV T962I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.5 85164 chr13 21734127 21734127 - ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGAT SKA3 0.001 0.005 0 0 1 2 0 0 0 0 0 0 85165 chr12 92382920 92382920 G A rs73368915 LINC01619 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.284 85166 chr2 179664376 179664376 T C rs587782983 TTN Nonsynonymous SNV H251R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.35 85167 chr12 55794575 55794575 C A rs144035879 OR6C65 Nonsynonymous SNV T88K 0.014 0.005 0.01 6 17 2 0.015 3 0 0 0 0 0.258 85168 chr12 94543660 94543660 G T PLXNC1 Nonsynonymous SNV V305F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 85169 chr14 101347482 101347482 C T rs61993318 RTL1 Nonsynonymous SNV R1215H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 10.15 85170 chr13 26621014 26621014 C G rs41291664 SHISA2 Synonymous SNV G175G 0.015 0.029 0.007 12 18 11 0.031 2 0 0 0 0 7.036 85171 chr3 112299398 112299398 G A rs146786641 SLC35A5 Nonsynonymous SNV R27H 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 9.459 85172 chr12 56748338 56748338 G T rs143159503 STAT2 Nonsynonymous SNV L232M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 22.9 85173 chrX 151123498 151123498 C T rs773238598 GABRE Nonsynonymous SNV R399H 0 0 0.007 0 0 0 0 2 0 0 1 0 7.804 85174 chr2 186657581 186657581 C T rs535354950 FSIP2 Synonymous SNV S1906S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.337 85175 chr12 22017410 22017410 C T rs61688134 ABCC9 Nonsynonymous SNV V734I 0.009 0.003 0 6 11 1 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.75 85176 chr12 57398223 57398223 C T rs145128725 ZBTB39 Nonsynonymous SNV R160Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 27.1 85177 chr12 57441433 57441433 G A rs750183012 MYO1A Synonymous SNV G101G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.39 85178 chr2 186664862 186664862 G T rs923170431 FSIP2 Nonsynonymous SNV G3610V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 85179 chrX 15332559 15332559 C T rs751351304 ASB11 Nonsynonymous SNV R17H 0 0 0.007 0 0 0 0 2 0 0 1 0 3.493 85180 chr14 104482422 104482422 C T rs770869663 TDRD9 Synonymous SNV V776V 0 0.005 0 0 0 2 0 0 0 0 0 0 7.568 85181 chr12 57648772 57648772 C A rs73120051 R3HDM2 Synonymous SNV G887G 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 20.4 85182 chr14 104497541 104497541 C T TDRD9 Nonsynonymous SNV L1127F 0 0.005 0 0 0 2 0 0 0 0 0 0 6.434 85183 chr3 119301113 119301113 A G rs201822828 ADPRH Nonsynonymous SNV I33V 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 23.5 85184 chrX 16859573 16859573 A G rs201831341 TXLNG Nonsynonymous SNV Y292C 0 0 0.007 0 0 0 0 2 0 0 1 0 23.2 85185 chr14 21501986 21501986 C T rs199616382 RNASE13 Synonymous SNV S154S 0 0.003 0 0 0 1 0 0 0 0 0 0 35 85186 chr12 58014187 58014187 C T rs73347910 SLC26A10 Nonsynonymous SNV P62S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29 85187 chr12 58014864 58014864 G C rs190472657 SLC26A10 Nonsynonymous SNV G127R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 33 85188 chr12 58014938 58014938 C T rs73347912 LOC101927583 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.917 85189 chr12 58018940 58018940 G T rs73347918 SLC26A10 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.4 85190 chr12 27628607 27628607 C T rs117144045 SMCO2 Nonsynonymous SNV T152M 0.024 0.031 0.003 9 28 12 0.023 1 1 0 0 0 0.069 85191 chr12 58088085 58088085 G A rs34299538 OS9 Synonymous SNV P47P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 17.41 85192 chr12 58120409 58120409 C T rs199546118 AGAP2 Nonsynonymous SNV A813T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 85193 chr12 58204145 58204145 T C rs112269561 AVIL Nonsynonymous SNV I250V 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 0.024 85194 chr13 103701788 103701788 G A rs145541774 SLC10A2 Nonsynonymous SNV T257M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 27.7 85195 chr12 60168732 60168732 G T rs142586562 SLC16A7 Nonsynonymous SNV S219I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.001 85196 chr12 6078535 6078535 G A rs374690023 VWF Nonsynonymous SNV P2524L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.464 85197 chr12 29786151 29786151 G A rs770862561 TMTC1 Nonsynonymous SNV R353W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 85198 chr14 23341951 23341951 C T rs34294471 LRP10 Synonymous SNV G13G 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 22.6 85199 chr14 23344572 23344572 A G rs28534929 LRP10 Nonsynonymous SNV M139V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 3.321 85200 chr14 23344599 23344599 C T LRP10 Synonymous SNV L148L 0.012 0.013 0 3 14 5 0.008 0 0 0 0 0 9.3 85201 chrX 46719498 46719498 C T rs1805147 RP2 Nonsynonymous SNV R282W 0.024 0.036 0.017 10 28 14 0.026 5 5 4 1 3 Benign/Likely benign 24.5 85202 chr14 23777098 23777098 C T rs372286720 BCL2L2, BCL2L2-PABPN1 Nonsynonymous SNV P41L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.8 85203 chr3 122487676 122487676 G A rs141281261 HSPBAP1 Synonymous SNV L102L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.78 85204 chrX 50653796 50653796 A C rs113099187 BMP15 Nonsynonymous SNV S5R 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 9.178 85205 chr13 113699172 113699172 C G rs200111582 MCF2L Nonsynonymous SNV T45R 0.003 0 0 0 4 0 0 0 0 0 0 0 5.875 85206 chrX 51487641 51487641 T C rs148592940 GSPT2 Synonymous SNV L307L 0 0 0.007 0 0 0 0 2 0 0 1 0 0.102 85207 chr2 201436351 201436351 A G SGO2 Nonsynonymous SNV K428E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.141 85208 chr3 123303850 123303850 C T rs762215697 HACD2 Nonsynonymous SNV A9T 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 9.446 85209 chr13 113832446 113832446 G A PCID2 Nonsynonymous SNV P424S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.229 85210 chrX 57706598 57706598 G A rs200530996 NLRP2B Synonymous SNV T32T 0 0 0.007 0 0 0 0 2 0 0 1 0 4.525 85211 chr14 23897077 23897077 T C rs2069543 MYH7 Synonymous SNV E535E 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.498 85212 chr13 53603162 53603162 G A rs149998643 OLFM4 Nonsynonymous SNV G64D 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 14.36 85213 chrX 69652448 69652448 T C rs750821117 GDPD2 Nonsynonymous SNV I413T 0 0 0.007 0 0 0 0 2 0 0 1 0 14.89 85214 chr12 42631973 42631973 T G YAF2 Nonsynonymous SNV K4Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 85215 chr13 20797032 20797032 A C GJB6 Nonsynonymous SNV I196M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 85216 chrX 73042316 73042316 T C rs16992436 TSIX, XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 0.123 85217 chr12 44171436 44171436 T C rs144854858 IRAK4 Synonymous SNV C116C 0 0 0 4 0 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.629 85218 chrX 73042607 73042607 C T rs41306111 TSIX, XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 8.895 85219 chrX 73043817 73043817 T C rs1620574 TSIX, XIST 0 0 0.248 0 0 0 0 73 0 0 25 0 6.787 85220 chrX 73044970 73044970 T A rs41303715 TSIX, XIST 0 0 0.075 0 0 0 0 22 0 0 9 0 12.2 85221 chrX 73046557 73046557 G T rs16992443 TSIX, XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 6.198 85222 chrX 73062694 73062694 A T rs41310673 XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 1.595 85223 chrX 73064935 73064935 C T rs45483698 XIST 0 0 0.075 0 0 0 0 22 0 0 9 0 5.094 85224 chrX 73066891 73066891 C A rs6527 XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 8.249 85225 chrX 73071141 73071141 C G rs41305409 XIST 0 0 0.082 0 0 0 0 24 0 0 10 0 3.776 85226 chr14 31806763 31806763 G T HEATR5A Nonsynonymous SNV Q1096K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 85227 chr12 48258945 48258945 C T rs774173372 VDR Synonymous SNV R54R 0.002 0 0 4 2 0 0.01 0 0 0 0 0 14.3 85228 chr13 25428215 25428215 C T rs779255899 RNF17 Synonymous SNV N1177N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 85229 chr2 207572133 207572133 A C rs67248530 DYTN Synonymous SNV S63S 0.038 0.031 0.041 8 45 12 0.021 12 3 0 0 0 0.015 85230 chr12 4853740 4853740 G A rs34687270 GALNT8 Nonsynonymous SNV G245E 0.012 0.013 0 8 14 5 0.021 0 0 0 0 0 26 85231 chr12 75892719 75892719 G A rs143283114 GLIPR1 Synonymous SNV L254L 0.017 0.013 0.003 13 20 5 0.033 1 0 0 0 1 4.976 85232 chr13 29600526 29600526 A G rs145387426 MTUS2 Nonsynonymous SNV D564G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.916 85233 chr10 101646118 101646118 T C rs750686543 DNMBP Nonsynonymous SNV Y818C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 85234 chr12 76740607 76740607 C T rs138702315 BBS10 Synonymous SNV L386L 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.454 85235 chr14 39649729 39649729 C T PNN Synonymous SNV I272I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 85236 chr3 129696007 129696007 G A rs149654673 TRH Nonsynonymous SNV R226Q 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 15.59 85237 chr14 102482408 102482408 G T rs17541165 DYNC1H1 Synonymous SNV L2486L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign/Likely benign 8.496 85238 chr12 50189072 50189072 C T rs750475923 NCKAP5L Synonymous SNV T857T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.641 85239 chr10 103901463 103901463 G A rs147391687 PPRC1 Synonymous SNV P1066P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.776 85240 chr13 36396968 36396968 G A rs143725017 DCLK1 Synonymous SNV T177T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.899 85241 chr13 36744720 36744720 C T rs61750906 CCDC169-SOHLH2, SOHLH2 Nonsynonymous SNV R402Q 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 13.08 85242 chr12 80865948 80865948 A G rs61729291 PTPRQ Synonymous SNV T196T 0.06 0.055 0.088 21 71 21 0.054 26 5 1 0 0 Benign 0.102 85243 chr14 23845076 23845076 G A rs148309201 IL25 Nonsynonymous SNV R174H 0.013 0.018 0.01 7 15 7 0.018 3 0 0 0 0 Likely benign 34 85244 chr2 216298091 216298091 G T rs369076813 FN1 Nonsynonymous SNV T124N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 85245 chr12 81007527 81007527 T C rs7963963 PTPRQ Nonsynonymous SNV I1520T 0.013 0.01 0.034 4 15 4 0.01 10 0 0 0 0 Benign 23.4 85246 chr12 81028838 81028838 C T rs61729309 PTPRQ Synonymous SNV D1795D 0.035 0.013 0.02 13 41 5 0.033 6 0 0 0 0 15.73 85247 chr14 104206433 104206433 G C PPP1R13B Nonsynonymous SNV P774A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.112 85248 chr14 24601906 24601906 G A rs759885341 FITM1 Synonymous SNV V251V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.797 85249 chr10 105811266 105811266 C T rs148601977 COL17A1 Nonsynonymous SNV G671S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 85250 chr12 88514867 88514867 C T rs372196608 CEP290 Synonymous SNV E422E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 85251 chr10 111886249 111886249 T A rs143966199 ADD3 Nonsynonymous SNV D532E 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.48 85252 chr12 9013772 9013772 G A rs769643895 A2ML1 Synonymous SNV S636S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12 85253 chr10 112654268 112654268 C A rs146453067 PDCD4 Nonsynonymous SNV D385E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 85254 chr14 30046511 30046511 T C rs45582934 PRKD1 Nonsynonymous SNV H891R 0.019 0.021 0.034 6 22 8 0.015 10 1 0 0 0 5.398 85255 chr10 114200423 114200423 C A ZDHHC6 Nonsynonymous SNV D180Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 85256 chr3 141299222 141299222 A G rs143035190 RASA2 Nonsynonymous SNV I535V 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 Benign/Likely benign 11.78 85257 chr2 220097257 220097257 G C rs61747682 ANKZF1 Nonsynonymous SNV S137T 0.01 0.01 0.003 0 12 4 0 1 0 0 0 0 13.6 85258 chr2 220136059 220136059 C A rs7580926 TUBA4B Nonsynonymous SNV Q122K 0.009 0.021 0.003 0 10 8 0 1 0 0 0 0 1.189 85259 chr13 48835287 48835287 G A ITM2B Nonsynonymous SNV R243H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 85260 chr12 94772672 94772672 C T rs199828197 CEP83 Synonymous SNV A157A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.47 85261 chr2 220136239 220136239 C T rs3731891 TUBA4B Nonsynonymous SNV R182C 0.009 0.01 0.003 0 10 4 0 1 0 0 0 0 10.66 85262 chr2 220136351 220136351 G C rs3731892 TUBA4B Nonsynonymous SNV R219T 0.009 0.021 0.003 0 10 8 0 1 0 0 0 0 0.152 85263 chr2 220136360 220136360 C T rs56105486 TUBA4B Nonsynonymous SNV T222M 0.009 0.01 0.003 0 10 4 0 1 0 0 0 0 1.27 85264 chr3 148603920 148603920 G A rs61747091 CPA3 Nonsynonymous SNV R341Q 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 12.81 85265 chr10 11654040 11654040 - T rs564842784 LOC107984208 0 0 0.058 0 0 0 0 17 0 0 1 0 85266 chr2 220250418 220250418 G A DNPEP Nonsynonymous SNV L209F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 85267 chr13 51929248 51929248 T C SERPINE3 Synonymous SNV D323D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.33 85268 chr3 148924064 148924064 G A rs34624984 CP Nonsynonymous SNV R367C 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 11.2 85269 chr3 149216603 149216603 G T rs374118183 TM4SF4 Nonsynonymous SNV V166L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.717 85270 chr10 118030386 118030386 C G rs34371262 GFRA1 Nonsynonymous SNV K94N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 85271 chr3 150387108 150387108 A C rs199684997 ERICH6 Nonsynonymous SNV C346G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.5 85272 chr2 220366272 220366272 C T rs41272703 GMPPA Synonymous SNV A71A 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 Benign 18.12 85273 chr3 150874033 150874033 T C rs61734152 MED12L Synonymous SNV D214D 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 1.644 85274 chr3 150911405 150911405 T C rs3732755 MED12L Synonymous SNV Y699Y 0.02 0.008 0.027 8 23 3 0.021 8 1 0 1 0 0.351 85275 chr3 150931385 150931385 A G rs12631155 P2RY14 Synonymous SNV F240F 0.004 0.008 0.02 1 5 3 0.003 6 0 0 1 0 0.002 85276 chr3 150932000 150932000 T C rs16863248 P2RY14 Synonymous SNV A35A 0.004 0.008 0.02 1 5 3 0.003 6 0 0 1 0 0.21 85277 chr2 220404193 220404193 C A CHPF Nonsynonymous SNV R585L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 85278 chr10 119013632 119013632 C T rs363411 SLC18A2 Synonymous SNV S199S 0.011 0.016 0.02 6 13 6 0.015 6 0 0 0 0 9.379 85279 chr12 52965165 52965165 A G rs147962513 KRT74 Nonsynonymous SNV F274S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 33 85280 chr3 151154614 151154614 G A rs7624011 IGSF10 Nonsynonymous SNV H606Y 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.001 85281 chr10 120810085 120810085 A G rs143332506 EIF3A Synonymous SNV Y807Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.48 85282 chr2 220414557 220414557 G A rs771359731 TMEM198 Nonsynonymous SNV G355D 0.001 0 0 0 1 0 0 0 0 0 0 0 28 85283 chr12 53002202 53002202 G A rs764613783 KRT73 Synonymous SNV G467G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.901 85284 chr14 47600939 47600939 C T rs189572619 MDGA2 Synonymous SNV S232S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.26 85285 chr3 154042131 154042131 C T rs201413099 DHX36 Synonymous SNV G25G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 8.722 85286 chr2 220502366 220502366 G C rs61729101 SLC4A3 Nonsynonymous SNV D894H 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 Benign 8.486 85287 chr12 54107594 54107594 C A rs34229062 CALCOCO1 Nonsynonymous SNV G476V 0.011 0.01 0.007 3 13 4 0.008 2 0 0 0 0 16.12 85288 chr14 20869166 20869166 G T TEP1 Nonsynonymous SNV A401E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 85289 chr12 54901645 54901645 A G rs146917559 NCKAP1L Synonymous SNV V55V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.9 85290 chr10 124395547 124395547 G A rs549719991 DMBT1 Nonsynonymous SNV D1440N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 85291 chr3 160231903 160231903 C T KPNA4 Nonsynonymous SNV A367T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 85292 chr3 160783222 160783222 T C rs151074448 PPM1L Synonymous SNV D75D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 5.593 85293 chr14 100705788 100705790 CCA - rs568477380 YY1 H80del 0.029 0.021 0.024 12 34 8 0.031 7 1 0 0 0 85294 chr14 65210256 65210256 G C PLEKHG3 Nonsynonymous SNV Q1165H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 85295 chr13 103704987 103704987 C T rs200735895 SLC10A2 Nonsynonymous SNV A190T 0.003 0 0 0 3 0 0 0 0 0 0 0 33 85296 chr13 107196413 107196415 TTC - ARGLU1 E251del 0.002 0 0 0 2 0 0 0 0 0 0 0 85297 chr10 127464290 127464290 G A rs147007817 MMP21 Nonsynonymous SNV S34L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 25.3 85298 chr10 128153385 128153385 G A rs114882604 C10orf90 Stop gain R472X 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 37 85299 chr12 54383208 54383208 C A rs375042242 HOXC10 Nonsynonymous SNV T336N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 85300 chr12 54687146 54687146 T C rs546907736 NFE2 Nonsynonymous SNV E45G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 85301 chr3 170078324 170078324 G C rs34430897 SKIL Nonsynonymous SNV V69L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.154 85302 chr14 103568488 103568488 G A rs138887682 EXOC3L4 Nonsynonymous SNV R143Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 85303 chr13 113201814 113201828 AGACGCGCGTGGGAA - TUBGCP3 F425_V429del 0.002 0 0 0 2 0 0 0 0 0 0 0 85304 chr2 232457857 232457857 T C rs17199614 TEX44 Synonymous SNV S65S 0.03 0.044 0.034 7 35 17 0.018 10 0 0 0 0 1.062 85305 chr13 114088074 114088074 G A rs139075628 ADPRHL1 Nonsynonymous SNV T163I 0.025 0.021 0.01 9 29 8 0.023 3 1 0 0 0 31 85306 chr13 20356759 20356759 G A PSPC1 Nonsynonymous SNV P47S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.41 85307 chr14 74411207 74411207 G A rs145629235 FAM161B Synonymous SNV L252L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.277 85308 chr14 105180558 105180558 C T rs368372551 INF2 Nonsynonymous SNV A1020V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.758 85309 chr13 20641393 20641393 T G rs368414953 ZMYM2 Nonsynonymous SNV L1106V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 85310 chr12 58014981 58014981 G A LOC101927583 0.001 0 0 0 1 0 0 0 0 0 0 0 7.961 85311 chr12 58018905 58018905 G - SLC26A10 0.001 0 0 0 1 0 0 0 0 0 0 0 85312 chr12 60169171 60169171 C T rs371501823 SLC16A7 Synonymous SNV L365L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 85313 chr14 23511939 23511939 C T rs200339082 PSMB11 Nonsynonymous SNV R169C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.2 85314 chr10 134910585 134910585 C G rs62624493 ADGRA1 Synonymous SNV V37V 0.009 0.016 0.014 2 10 6 0.005 4 0 0 0 0 3.141 85315 chr14 62204808 62204808 C T rs41508050 HIF1A Nonsynonymous SNV T442I 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign 22.4 85316 chr10 135043986 135043986 C T rs775906314 UTF1 Nonsynonymous SNV A65V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.048 85317 chr3 183948635 183948635 C T rs776535956 VWA5B2 Synonymous SNV R80R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 85318 chr3 184025261 184025261 T C PSMD2 Synonymous SNV A587A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.646 85319 chr3 184064556 184064556 T C rs781255409 CLCN2 Synonymous SNV A801A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.207 85320 chr3 184086052 184086052 T A rs41543313 POLR2H Nonsynonymous SNV L163I 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 11.71 85321 chr12 6497581 6497581 G T rs41332645 LTBR Nonsynonymous SNV A210S 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 Benign 13.04 85322 chr14 77715148 77715148 G A rs139259898 TMEM63C Synonymous SNV A601A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 15.01 85323 chr3 184299155 184299155 G A rs36034245 EPHB3 Synonymous SNV A949A 0.017 0.016 0.02 7 20 6 0.018 6 0 0 0 0 10.23 85324 chr14 24620821 24620821 A T rs149481717 RNF31 Nonsynonymous SNV Q471L 0.003 0.01 0 0 4 4 0 0 0 1 0 0 18.74 85325 chr12 66638352 66638352 G A rs754495502 IRAK3 Nonsynonymous SNV S264N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.423 85326 chr14 67610127 67610127 T C rs41285476 GPHN Synonymous SNV D566D 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 Benign 7.481 85327 chr12 6707104 6707104 C T rs61753200 CHD4 Synonymous SNV G609G 0.012 0.003 0.01 2 14 1 0.005 3 0 0 1 0 15.02 85328 chr14 69347632 69347632 C T rs36039812 ACTN1 Synonymous SNV K676K 0.044 0.049 0.071 11 52 19 0.028 21 1 1 1 0 17.74 85329 chr3 188327445 188327445 G A rs146859876 LPP Nonsynonymous SNV G309D 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 27.2 85330 chr12 6961353 6961353 C G rs373402561 USP5 Nonsynonymous SNV L4V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 20.7 85331 chr14 89110801 89110801 T C rs150482128 EML5 Synonymous SNV V1361V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign 8.569 85332 chr12 6965260 6965260 C T rs149145992 USP5 Synonymous SNV Y128Y 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 12.48 85333 chr12 6976669 6976669 T G rs1800202 TPI1 Nonsynonymous SNV I17R 0.009 0.013 0.01 4 10 5 0.01 3 0 0 0 0 Uncertain significance 23.7 85334 chr12 6976685 6976685 G A rs1800201 TPI1 Synonymous SNV P22P 0.006 0.008 0.014 4 7 3 0.01 4 0 0 0 0 Likely benign 18.51 85335 chr12 6976688 6976688 A G rs1800200 TPI1 Synonymous SNV R23R 0.009 0.016 0.014 6 11 6 0.015 4 0 0 0 0 Benign 14.66 85336 chr10 25312868 25312868 C G rs41279890 THNSL1 Nonsynonymous SNV P239R 0.02 0.026 0.024 5 24 10 0.013 7 0 1 0 0 1.47 85337 chr14 31858187 31858187 C T rs61754288 HEATR5A Nonsynonymous SNV R266K 0.032 0.029 0.061 17 37 11 0.044 18 1 0 0 0 9.194 85338 chr10 25313348 25313348 A G rs41279894 THNSL1 Nonsynonymous SNV Q399R 0.02 0.026 0.024 5 24 10 0.013 7 0 1 0 0 8.63 85339 chr10 25464527 25464527 C A rs78985567 GPR158 Nonsynonymous SNV P60T 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 18.74 85340 chr12 7045912 7045912 - CAGCAGCAG ATN1 Q502_H503insQQQ 0.004 0 0 2 5 0 0.005 0 0 0 0 0 85341 chr14 74422586 74422586 G T rs140725181 COQ6 Nonsynonymous SNV D146Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.3 85342 chr12 70949014 70949014 G A rs61758735 PTPRB Nonsynonymous SNV T1382I 0.011 0.003 0 4 13 1 0.01 0 0 0 0 0 27.8 85343 chr3 194118145 194118145 C G rs142440028 GP5 Nonsynonymous SNV M289I 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 22.9 85344 chr14 75515646 75515646 T G rs144707485 MLH3 Nonsynonymous SNV Y238S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 85345 chr12 7260930 7260930 C G rs201343174 C1RL Nonsynonymous SNV A73P 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 26.6 85346 chr3 124774432 124774432 T G rs62265663 HEG1 Nonsynonymous SNV R101S 0.016 0.01 0.01 13 19 4 0.033 3 5 1 1 4 21.2 85347 chr12 72936118 72936118 T C TRHDE Synonymous SNV V545V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.806 85348 chr12 7045254 7045254 C T rs201165264 ATN1 Nonsynonymous SNV P275L 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 21.2 85349 chr12 7045904 7045912 CAGCAGCAG - ATN1 Q500_Q502del 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 85350 chr14 94741788 94741788 C T rs550716897 PPP4R4 Nonsynonymous SNV R762C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 85351 chr3 3888152 3888152 C T rs34745501 LRRN1 Synonymous SNV C609C 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 Benign 10.35 85352 chr10 3185237 3185237 A G rs4881109 PITRM1-AS1 0 0 0.092 0 0 0 0 27 0 0 9 0 3.03 85353 chr14 94935985 94935985 T C rs59773088 SERPINA9 Nonsynonymous SNV S65G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.001 85354 chr10 3185253 3185256 ATTC - rs55922865 PITRM1-AS1 0 0 0.126 0 0 0 0 37 0 0 12 0 85355 chr14 50295773 50295773 T C rs201348677 NEMF Nonsynonymous SNV R411G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.22 85356 chr3 5024828 5024828 G A rs34122820 BHLHE40 Synonymous SNV S230S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.951 85357 chr12 72338117 72338117 G A rs530018658 TPH2 Nonsynonymous SNV R100Q 0 0 0 4 0 0 0.01 0 0 0 0 0 19.17 85358 chr14 23854129 23854129 G A rs917672791 MYH6 Nonsynonymous SNV T1762M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 85359 chr14 23901012 23901012 T C rs2069541 MYH7 Synonymous SNV A199A 0.021 0.013 0.02 8 25 5 0.021 6 1 0 0 0 Benign 7.818 85360 chr10 34400403 34400403 C T rs144844232 PARD3 Synonymous SNV E1143E 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Benign 11.11 85361 chr14 86088521 86088521 C T rs17646348 FLRT2 Synonymous SNV I221I 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 6.96 85362 chr14 24572939 24572939 G A PCK2 Synonymous SNV E429E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.276 85363 chr3 12647725 12647725 C G RAF1 Nonsynonymous SNV E138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 85364 chr14 24883899 24883899 C A rs181160538 NYNRIN Nonsynonymous SNV P982T 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 1.301 85365 chr15 102186966 102186966 G A rs139709573 TM2D3 Nonsynonymous SNV P129L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.303 85366 chr4 1739053 1739053 C G rs114631890 TACC3 Nonsynonymous SNV P612A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.27 85367 chr12 9220267 9220267 A T A2M-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.414 85368 chr4 1801059 1801059 C T rs371729802 FGFR3 Nonsynonymous SNV P63L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.711 85369 chr13 99630152 99630152 A G DOCK9 Synonymous SNV D4D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.628 85370 chr14 60011887 60011887 T C rs201639386 CCDC175 Nonsynonymous SNV H389R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.006 85371 chr14 100820880 100820880 G T rs201005516 WARS1 Nonsynonymous SNV A108D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 17.94 85372 chr12 95602780 95602780 G A rs766404 FGD6 Synonymous SNV Y760Y 0.017 0.018 0.037 10 20 7 0.026 11 0 0 0 0 2.645 85373 chr3 14964043 14964043 C T rs149798859 FGD5 Synonymous SNV H1265H 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 13.15 85374 chr15 31775655 31775655 T G rs1052234423 OTUD7A Nonsynonymous SNV N875H 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 11.31 85375 chr10 50594558 50594558 G A rs377612688 DRGX Synonymous SNV Y164Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.042 85376 chr14 95912426 95912426 T C rs17092283 SYNE3 Synonymous SNV A484A 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 7.08 85377 chr14 96730780 96730780 C T rs139028840 BDKRB1 Nonsynonymous SNV T254M 0 0.005 0 0 0 2 0 0 0 0 0 0 22 85378 chr14 44975146 44975146 C T FSCB Nonsynonymous SNV E349K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 85379 chr14 65209909 65209909 G A rs17180132 PLEKHG3 Nonsynonymous SNV V1050I 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 Benign 25.2 85380 chr10 5790845 5790845 G A rs745996717 TASOR2 Nonsynonymous SNV D1740N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 85381 chr14 105354108 105354108 G A rs578240281 CEP170B Nonsynonymous SNV G1108S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 85382 chr14 71051554 71051554 A G rs145634622 MED6 Synonymous SNV P246P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 9.058 85383 chr3 38139282 38139282 C T rs190082830 DLEC1 Synonymous SNV L871L 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 Benign 15 85384 chr3 38163249 38163249 G A rs754410789 DLEC1 Nonsynonymous SNV R1669Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 85385 chr10 64573312 64573312 T G rs45602133 EGR2 Synonymous SNV R362R 0.02 0.016 0.02 5 23 6 0.013 6 0 0 0 0 Benign 1.193 85386 chr14 73730428 73730428 C T rs145397376 PAPLN Synonymous SNV D933D 0.006 0.021 0.003 3 7 8 0.008 1 0 0 0 0 7.615 85387 chr14 73739273 73739273 G C rs538710096 PAPLN Nonsynonymous SNV L1246F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 85388 chr13 111109618 111109618 - ATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTC rs759253067 COL4A2-AS2 H151_Q152insEPHGRLGSHADAGH 0.009 0.013 0 0 11 5 0 0 2 1 0 0 85389 chr15 28235725 28235725 G A rs1800405 OCA2 Synonymous SNV G371G 0.012 0.016 0.003 6 14 6 0.015 1 0 0 0 0 Benign/Likely benign 4.033 85390 chr15 42211453 42211453 C T rs569000123 EHD4 Synonymous SNV A293A 0 0.005 0 0 0 2 0 0 0 0 0 0 17.25 85391 chr15 42246078 42246078 G A EHD4 Synonymous SNV S99S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.47 85392 chr4 13602387 13602387 A G rs570250478 BOD1L1 Nonsynonymous SNV L2046P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.891 85393 chr14 20943023 20943023 T G PNP Nonsynonymous SNV V126G 0.003 0 0 0 4 0 0 0 0 0 0 0 26.2 85394 chr14 60007463 60007463 C A rs757482380 CCDC175 Nonsynonymous SNV A429S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 85395 chr13 114058566 114058566 C T rs140555231 LOC101928841 Synonymous SNV R1313R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 2.071 85396 chr3 42680661 42680661 C T rs141284259 NKTR Synonymous SNV T1155T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.16 85397 chr10 72511870 72511870 C T rs147720294 ADAMTS14 Synonymous SNV Y872Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 85398 chr4 37358074 37358074 C T rs61735138 NWD2 Synonymous SNV C109C 0.009 0.003 0.014 7 10 1 0.018 4 0 0 0 0 10.76 85399 chr15 40903051 40903051 G A rs8030491 KNL1 Nonsynonymous SNV R102Q 0.02 0.021 0 6 24 8 0.015 0 1 0 0 0 Benign 0.02 85400 chr13 20426175 20426175 G C rs143318146 ZMYM5 Stop gain S49X 0.01 0.008 0 4 12 3 0.01 0 0 0 0 0 Benign 35 85401 chr10 75552247 75552247 C T rs370371569 ZSWIM8 Synonymous SNV H650H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.811 85402 chr3 44815895 44815895 C T rs369068128 KIF15 Nonsynonymous SNV R10C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 85403 chr13 25034237 25034237 T G rs76922420 PARP4 Nonsynonymous SNV K724T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.1 85404 chr14 64953709 64953709 A C rs777573701 ZBTB25 Nonsynonymous SNV L414V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.67 85405 chr10 76781837 76781848 GAGGAGGAGGAC - rs569172957 KAT6B D296_E299del 0.002 0 0.007 0 2 0 0 2 0 0 0 0 85406 chr15 48522628 48522628 C - rs745334373 SLC12A1 R302Gfs*3 0 0.005 0.003 0 0 2 0 1 0 0 0 0 85407 chr15 48782238 48782238 G A rs116945525 FBN1 Synonymous SNV D964D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.053 85408 chr14 65235832 65235832 C T rs146513976 SPTB Nonsynonymous SNV R1981H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.1 85409 chr14 23310776 23310776 C T rs139231227 MMP14 Nonsynonymous SNV S62L 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 85410 chr15 49574228 49574228 C T rs780791959 GALK2 Synonymous SNV G172G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.16 85411 chr15 49620203 49620203 A G rs757107457 GALK2 Synonymous SNV T397T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 1.495 85412 chr13 24443570 24443570 A G rs144652846 MIPEP Synonymous SNV Y268Y 0.006 0.01 0.007 6 7 4 0.015 2 0 0 0 0 Benign 5.238 85413 chr10 79742011 79742011 C T rs141312907 POLR3A Synonymous SNV K1220K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 17.05 85414 chr14 89124664 89124664 A G rs149978940 EML5 Synonymous SNV Y1248Y 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 0.265 85415 chr15 51975302 51975302 T G rs753668127 SCG3 Nonsynonymous SNV I54M 0 0.005 0 0 0 2 0 0 0 0 0 0 14.44 85416 chr15 52476852 52476852 C T rs41277710 GNB5 Nonsynonymous SNV V8I 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 21.4 85417 chr13 25265156 25265156 G A rs565225438 ATP12A Nonsynonymous SNV R285H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.42 85418 chr15 42148796 42148796 T A rs200163654 SPTBN5 Nonsynonymous SNV N2937Y 0.007 0.018 0.007 2 8 7 0.005 2 0 0 0 0 Uncertain significance 26.6 85419 chr10 81928812 81928812 C A rs139412104 ANXA11 Synonymous SNV V158V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.97 85420 chr14 69346768 69346768 C T rs776400043 ACTN1 Nonsynonymous SNV V731I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 85421 chr10 85962741 85962741 C T rs150001512 CDHR1 Synonymous SNV G215G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 85422 chr13 31195297 31195297 T C rs151003670 USPL1 Nonsynonymous SNV I7T 0.01 0.018 0 3 12 7 0.008 0 0 0 0 0 3.157 85423 chr14 70634200 70634200 T C rs34816272 SLC8A3 Nonsynonymous SNV R314G 0.013 0.01 0.014 4 15 4 0.01 4 0 0 0 0 Benign 17.69 85424 chr10 86130873 86130873 C T rs772333587 CCSER2 Nonsynonymous SNV S22F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 85425 chr10 86131189 86131189 A G rs778563233 CCSER2 Synonymous SNV P127P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.037 85426 chr10 86273272 86273272 A G rs775840264 CCSER2 Nonsynonymous SNV K225R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 85427 chr15 57744344 57744344 A G rs146782617 CGNL1 Synonymous SNV Q637Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.472 85428 chr14 73732138 73732138 G C rs373959552 PAPLN Synonymous SNV R1062R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.97 85429 chr15 43021262 43021262 G A rs767340780 CDAN1 Synonymous SNV F868F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.36 85430 chr13 32977182 32977182 C T rs769073286 N4BP2L1 Nonsynonymous SNV R210K 0.002 0.013 0 4 2 5 0.01 0 0 0 0 0 9.305 85431 chr3 48623625 48623625 C T rs149011081 COL7A1 Nonsynonymous SNV R1202H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 85432 chr15 43552663 43552663 G T rs148913728 TGM5 Nonsynonymous SNV T42N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.96 85433 chr3 48716000 48716000 G A rs529060187 NCKIPSD Synonymous SNV D654D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.903 85434 chr14 31355389 31355389 A G rs139503327 COCH Nonsynonymous SNV I450V 0.009 0 0 3 10 0 0.008 0 1 0 0 0 Conflicting interpretations of pathogenicity 22 85435 chr13 34410363 34410363 G A rs3135634 RFC3 Synonymous SNV A334A 0.008 0.01 0 5 9 4 0.013 0 0 0 0 0 13.06 85436 chr3 49170064 49170064 G C rs144765752 LAMB2 Nonsynonymous SNV P37A 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 85437 chr10 91597627 91597627 C G rs1326199 LINC00865 0 0 0.017 0 0 0 0 5 0 0 0 0 4.76 85438 chr10 91597636 91597636 A G rs1326198 LINC00865 0 0 0.02 0 0 0 0 6 0 0 0 0 3.074 85439 chr10 93668626 93668626 C T rs202182077 FGFBP3 Nonsynonymous SNV S34N 0.008 0 0.007 0 9 0 0 2 0 0 0 0 10.17 85440 chr3 49679826 49679826 G A rs115552063 BSN Synonymous SNV P253P 0.024 0.008 0.014 4 28 3 0.01 4 0 0 0 0 8.701 85441 chr4 56322405 56322405 C T CLOCK Synonymous SNV K285K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.09 85442 chr14 75078270 75078270 G A rs140842900 LTBP2 Synonymous SNV P126P 0.016 0.021 0.014 4 19 8 0.01 4 0 0 0 0 Benign 13.09 85443 chr15 45398400 45398400 G A DUOX2 Stop gain Q691X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 36 85444 chr15 45454569 45454569 T C rs142608692 DUOX1 Synonymous SNV C1414C 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 Benign 1.168 85445 chr3 52237928 52237928 T C rs199507022 ALAS1 Synonymous SNV D159D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.242 85446 chr13 42875258 42875258 T C rs61741710 AKAP11 Synonymous SNV Y792Y 0.013 0.013 0.014 12 15 5 0.031 4 0 0 0 0 0.003 85447 chr13 42875683 42875683 A G rs41288309 AKAP11 Nonsynonymous SNV N934S 0.012 0.013 0.014 12 14 5 0.031 4 0 0 0 0 0.003 85448 chr15 65687589 65687589 G A IGDCC4 Synonymous SNV D473D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.324 85449 chr4 68934515 68934515 A G rs35687346 TMPRSS11F Synonymous SNV S192S 0.018 0.013 0.007 5 21 5 0.013 2 0 0 0 0 6.066 85450 chr13 46619107 46619107 A G ZC3H13 Synonymous SNV Y70Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.71 85451 chr4 68938185 68938185 C T rs1438391 TMPRSS11F Nonsynonymous SNV D124N 0.017 0.013 0.003 5 20 5 0.013 1 0 0 0 0 2.765 85452 chr14 45636328 45636328 A G rs61753893 FANCM Nonsynonymous SNV N629S 0.014 0.01 0.014 2 17 4 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 6.538 85453 chr13 44465701 44465701 T - rs994547914 LACC1 L418Wfs*34 0.002 0 0 10 2 0 0.026 0 0 0 0 0 85454 chr15 49320803 49320803 T C rs200418809 SECISBP2L Synonymous SNV R247R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.695 85455 chr15 49338484 49338484 G T rs199515957 SECISBP2L Nonsynonymous SNV P5T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 22.3 85456 chr15 67529118 67529118 G A rs191264015 AAGAB Synonymous SNV S38S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.24 85457 chr13 49765249 49765249 A G rs138343551 FNDC3A Synonymous SNV L625L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.783 85458 chr3 52536185 52536185 G A rs199640409 STAB1 Nonsynonymous SNV R143H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.36 85459 chr15 50731367 50731367 A G USP8 Nonsynonymous SNV T33A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.2 85460 chr14 50583096 50583096 A G rs140408138 VCPKMT Nonsynonymous SNV S59P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.85 85461 chr10 99185791 99185791 G A rs545935931 LOC644215 0 0 0.003 0 0 0 0 1 0 0 0 0 8.821 85462 chr15 28259945 28259945 C T rs368159473 OCA2 Nonsynonymous SNV V341I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 27.4 85463 chr13 52520550 52520550 G A rs72552255 ATP7B Nonsynonymous SNV T770M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Pathogenic 29.9 85464 chr13 48669181 48669181 C G rs34140370 MED4 Nonsynonymous SNV E12Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.1 85465 chr13 52686429 52686429 C T rs377168646 NEK5 Nonsynonymous SNV R96Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.32 85466 chr13 52718870 52718870 G A rs372921273 NEK3 Stop gain R254X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 85467 chr13 50366584 50366584 C T KPNA3 Nonsynonymous SNV R20H 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 32 85468 chr15 72192242 72192242 G A rs138711800 MYO9A Nonsynonymous SNV R1086C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 35 85469 chr14 89087233 89087233 C T rs769067732 EML5 Nonsynonymous SNV R1747H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 85470 chr3 54603875 54603875 C T CACNA2D3 Stop gain R244X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 85471 chr11 1016887 1016887 G A rs776572312 MUC6 Nonsynonymous SNV P1972S 0.01 0.005 0.048 4 12 2 0.01 14 0 0 0 0 11.42 85472 chr15 75195037 75195037 G C rs150373765 FAM219B Nonsynonymous SNV P174A 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 25.1 85473 chr3 58191221 58191221 T G DNASE1L3 Nonsynonymous SNV K99N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 85474 chr14 59108425 59108425 G A rs757924168 DACT1 Synonymous SNV E198E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.666 85475 chr13 98645399 98645399 T C IPO5 Nonsynonymous SNV L278P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.9 85476 chr13 96285542 96285542 C A rs750389191 DZIP1 Nonsynonymous SNV A211S 0 0 0 2 0 0 0.005 0 0 0 0 0 18.71 85477 chr13 98896944 98896944 A G rs138672153 FARP1 Nonsynonymous SNV E124G 0.009 0.008 0.02 5 10 3 0.013 6 0 0 0 0 1.895 85478 chr15 64430312 64430312 C T rs573729420 SNX1 Synonymous SNV F530F 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 10.52 85479 chr3 97596782 97596782 C T CRYBG3 Synonymous SNV S2248S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 85480 chr11 1017824 1017824 G C rs201767599 MUC6 Synonymous SNV L1659L 0.001 0.003 0.048 2 1 1 0.005 14 0 0 0 0 0.678 85481 chr4 87683906 87683906 A C PTPN13 Nonsynonymous SNV N1003H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.9 85482 chr14 100795375 100795375 C T rs149283899 SLC25A47 Nonsynonymous SNV R68W 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 29.8 85483 chr3 97662072 97662072 G C rs200227709 CRYBG3 Nonsynonymous SNV G2943R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 85484 chr14 100795937 100795937 C T rs141510710 SLC25A47 Synonymous SNV V148V 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 11.72 85485 chr14 100803423 100803423 G A rs2234529 WARS1 Synonymous SNV D369D 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 11.84 85486 chr15 101562631 101562631 A G rs41381646 LRRK1 Synonymous SNV K632K 0.008 0.016 0.003 8 9 6 0.021 1 0 0 0 0 0.087 85487 chr4 88534029 88534029 C A rs61738509 DSPP Nonsynonymous SNV P231T 0.014 0.008 0.014 6 16 3 0.015 4 0 0 0 0 Benign 14.88 85488 chr4 88534140 88534140 G T rs61738508 DSPP Nonsynonymous SNV G268W 0.014 0.008 0.01 6 16 3 0.015 3 0 0 0 0 Benign 20.5 85489 chr4 88537556 88537556 A G rs112542308 DSPP Nonsynonymous SNV N1248D 0.014 0.008 0.02 6 16 3 0.015 6 0 0 0 0 0.096 85490 chr11 101937300 101937300 A G CFAP300 Nonsynonymous SNV D118G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.212 85491 chr15 22955211 22955211 C T rs36080947 CYFIP1 Synonymous SNV G413G 0.012 0.026 0.007 10 14 10 0.026 2 0 0 0 0 20.5 85492 chr4 88902824 88902824 G A rs149310018 SPP1 Synonymous SNV T97T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.808 85493 chr15 23889873 23889873 G C rs138628273 MAGEL2 Nonsynonymous SNV T1006S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 0.059 85494 chr14 103390061 103390061 G T rs145328398 AMN Synonymous SNV A19A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Likely benign 6.086 85495 chr14 65209978 65209978 G A rs759622959 PLEKHG3 Nonsynonymous SNV G1073S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.681 85496 chr15 25926152 25926152 T C rs2076745 ATP10A Nonsynonymous SNV I1188V 0.014 0.01 0.014 2 16 4 0.005 4 0 0 0 0 Likely benign 8.24 85497 chr11 104901058 104901058 G A rs61755276 CASP1 Nonsynonymous SNV S188L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.17 85498 chr14 105353811 105353811 C T rs201197636 CEP170B Nonsynonymous SNV R1009C 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 25.5 85499 chr15 34395036 34395036 A G PGBD4 Nonsynonymous SNV T102A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.767 85500 chr15 75498486 75498486 C T rs141467125 C15orf39 Nonsynonymous SNV H33Y 0.01 0.01 0.003 4 12 4 0.01 1 0 0 0 0 0.041 85501 chr4 109088896 109088896 C T rs759797405 LEF1 Nonsynonymous SNV G10S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 85502 chr11 111789512 111789512 T C rs139772777 HSPB2-C11orf52 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 5.014 85503 chr3 113697047 113697047 C T rs200402239 CCDC191 Synonymous SNV A842A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.7 85504 chr15 89417080 89417080 C T rs117879889 ACAN Synonymous SNV C2447C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 8.366 85505 chr4 114276422 114276422 C G rs140926982 ANK2 Synonymous SNV G2216G 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 Benign/Likely benign 6.612 85506 chr11 113269905 113269905 A G rs780717496 ANKK1 Nonsynonymous SNV D405G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 85507 chr14 20824127 20824127 C T PARP2 Synonymous SNV D346D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.045 85508 chr15 52504002 52504002 T C rs377674675 MYO5C Synonymous SNV A1407A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.039 85509 chr14 75936002 75936002 C T rs773730517 JDP2 Nonsynonymous SNV R106W 0.008 0 0 6 9 0 0.015 0 0 0 0 0 24 85510 chr4 123179900 123179900 C T rs45510500 KIAA1109 Nonsynonymous SNV R2222W 0.026 0.008 0.031 9 30 3 0.023 9 0 0 0 0 35 85511 chr14 77931024 77931024 C T rs751617912 AHSA1 Nonsynonymous SNV R51C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 85512 chr14 21109255 21109255 T C rs45592635 OR6S1 Nonsynonymous SNV E199G 0.024 0.013 0.007 11 28 5 0.028 2 0 0 0 2 25.4 85513 chr14 21167833 21167833 G A rs117582758 RNASE4 Synonymous SNV E101E 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 11.7 85514 chr14 21813285 21813285 C T rs34116882 RPGRIP1 Synonymous SNV D1182D 0.014 0.008 0.014 2 17 3 0.005 4 0 0 1 0 Conflicting interpretations of pathogenicity 12.45 85515 chr11 117389428 117389428 G A rs145582678 DSCAML1 Synonymous SNV P421P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 85516 chr14 21853853 21853853 A G rs61748933 CHD8 Synonymous SNV D2555D 0.017 0.016 0.034 2 20 6 0.005 10 0 0 1 0 Benign 0.829 85517 chr3 121712039 121712039 T C rs776350294 ILDR1 Synonymous SNV P430P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.026 85518 chr15 42162706 42162706 G A rs377166485 SPTBN5 Stop gain R1834X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 85519 chr15 91504870 91504870 C T rs754398011 RCCD1 Synonymous SNV H334H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.779 85520 chr14 89878599 89878599 C T rs144767183 FOXN3 Synonymous SNV K74K 0.003 0 0 0 3 0 0 0 0 0 0 0 12.95 85521 chr14 21560149 21560149 T G ZNF219 Nonsynonymous SNV E436A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 85522 chr11 118134830 118134830 G A rs36040758 MPZL2 Synonymous SNV L13L 0.003 0.008 0.017 4 4 3 0.01 5 0 0 0 0 Benign 13.03 85523 chr11 118873840 118873840 T C rs9645663 RPL23AP64 0 0 0.068 0 0 0 0 20 0 0 3 0 13.11 85524 chr4 139163150 139163150 G A rs140307668 SLC7A11 Nonsynonymous SNV P25L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 85525 chr11 118984649 118984649 A G rs114837336 C2CD2L Nonsynonymous SNV K525R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 85526 chr14 23517375 23517375 G C rs372007178 CDH24 Synonymous SNV P720P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.218 85527 chr15 42632915 42632915 A G rs117264272 GANC Synonymous SNV E705E 0.001 0.003 0.01 3 1 1 0.008 3 0 0 0 0 4.135 85528 chr14 23518408 23518408 C A rs377668553 CDH24 Synonymous SNV L558L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.26 85529 chr11 119045533 119045533 C T rs73564479 NLRX1 Synonymous SNV S407S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.99 85530 chr15 85619998 85619998 A G PDE8A Nonsynonymous SNV I104V 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 14.96 85531 chr4 147442864 147442864 C T SLC10A7 Synonymous SNV R2R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.83 85532 chr4 147724643 147724643 C T rs560026639 TTC29 Synonymous SNV E432E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.18 85533 chr15 42977290 42977290 C T rs12594837 STARD9 Nonsynonymous SNV R1172C 0.005 0.003 0.014 1 6 1 0.003 4 0 0 0 0 14.36 85534 chr11 119066167 119066167 T C rs73564500 CCDC153 Nonsynonymous SNV K11E 0 0 0.007 0 0 0 0 2 0 0 0 0 24 85535 chr15 42978931 42978931 C T STARD9 Nonsynonymous SNV L1719F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 85536 chr14 93043707 93043707 G - RIN3 M9Ifs*22 0.004 0 0 0 5 0 0 0 0 0 0 0 85537 chr14 23870053 23870053 G A rs61742470 MYH6 Synonymous SNV I425I 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 11 85538 chr3 124377326 124377326 T G rs56106611 KALRN Nonsynonymous SNV S299A 0.006 0 0.003 4 7 0 0.01 1 0 0 0 0 Benign 26.3 85539 chr3 124385301 124385301 T C rs55689161 KALRN Synonymous SNV T387T 0.014 0.008 0.01 6 17 3 0.015 3 0 0 0 0 2.623 85540 chr3 124385361 124385361 A G rs41264663 KALRN Synonymous SNV A407A 0.014 0.008 0.01 6 17 3 0.015 3 0 0 0 0 5.521 85541 chr3 124385942 124385942 T C rs2289420 KALRN Synonymous SNV V475V 0.014 0.008 0.01 7 17 3 0.018 3 0 0 0 0 4.78 85542 chr15 65209683 65209683 G T rs775286563 ANKDD1A Synonymous SNV A79A 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 12.98 85543 chr3 124385960 124385960 C T rs2289419 KALRN Synonymous SNV N481N 0.014 0.008 0.01 7 17 3 0.018 3 0 0 0 0 15.89 85544 chr4 154557634 154557634 G A rs750139347 TMEM131L Nonsynonymous SNV R1580H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 85545 chr3 124390722 124390722 G A rs35653635 KALRN Nonsynonymous SNV G577R 0.014 0.008 0.01 6 17 3 0.015 3 0 0 0 0 26.5 85546 chr11 120741935 120741935 G C rs4936561 LOC101929227 0 0 0.058 0 0 0 0 17 0 0 6 0 1.131 85547 chr11 120741937 120741937 T C rs4936562 LOC101929227 0 0 0.058 0 0 0 0 17 0 0 6 0 2.505 85548 chr15 43038399 43038399 C T rs146279300 TTBK2 Nonsynonymous SNV R1110H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 27.4 85549 chr16 11645626 11645626 T C rs61617938 LITAF Nonsynonymous SNV S138G 0.005 0.016 0 1 6 6 0.003 0 0 0 0 0 Benign 2.028 85550 chr16 11645629 11645629 G A rs57456743 LITAF Nonsynonymous SNV R137C 0.005 0.016 0 2 6 6 0.005 0 0 0 0 0 Benign 1.532 85551 chr14 24658666 24658666 G C rs149257011 TM9SF1 Synonymous SNV S505S 0.004 0 0 0 5 0 0 0 0 0 0 0 5.918 85552 chr11 121323241 121323241 G T rs556756459 SORL1 Nonsynonymous SNV R67S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 85553 chr14 24766024 24766024 G A rs747329375 DHRS1 Stop gain R72X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 85554 chr14 24769809 24769809 G A rs141399108 NOP9 Nonsynonymous SNV S148N 0.008 0.008 0 4 9 3 0.01 0 0 0 0 1 26.8 85555 chr14 26949248 26949248 C A rs757576804 NOVA1 Nonsynonymous SNV A127S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 21 85556 chr15 44964600 44964600 - TGC PATL2 Q166_H167insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 85557 chr4 166263047 166263047 G A rs17585739 MSMO1 Synonymous SNV Q146Q 0.025 0.01 0.027 10 29 4 0.026 8 0 0 0 0 0.669 85558 chr4 166405584 166405584 C T rs4690821 CPE Synonymous SNV H267H 0.02 0.01 0.014 11 24 4 0.028 4 0 0 0 0 10.56 85559 chr16 1447227 1447227 G A rs144818814 UNKL Synonymous SNV D268D 0.016 0.018 0.003 5 19 7 0.013 1 0 0 0 0 6.735 85560 chr4 167656165 167656165 G A rs147816230 SPOCK3 Synonymous SNV D308D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 85561 chr15 68643602 68643602 C T rs146041053 ITGA11 Synonymous SNV A296A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 85562 chr15 45710852 45710852 G T rs777812455 SPATA5L1 Nonsynonymous SNV G689V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 85563 chr15 69329515 69329515 G A rs144275394 NOX5 Nonsynonymous SNV V418M 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 0.141 85564 chr3 129599225 129599225 C T rs189828511 TMCC1 Nonsynonymous SNV G44E 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 14.65 85565 chr14 24702789 24702789 C T rs2295316 GMPR2 Synonymous SNV A82A 0.01 0.003 0.007 11 12 1 0.028 2 1 0 0 0 17.3 85566 chr14 24724656 24724656 T C rs142404759 TGM1 Nonsynonymous SNV E520G 0.008 0.008 0.007 11 9 3 0.028 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 85567 chr14 36074840 36074840 T C rs45615938 RALGAPA1 Synonymous SNV T2288T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.008 85568 chr15 71953029 71953029 C T rs749428270 THSD4 Nonsynonymous SNV T78M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.8 85569 chr15 101120864 101120864 T C rs200254501 LINS1 Nonsynonymous SNV I62V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 85570 chr14 24775287 24775287 G A rs139893717 CIDEB Synonymous SNV I131I 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 16.53 85571 chr15 51772895 51772895 G T rs78376092 DMXL2 Synonymous SNV A1500A 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 5.824 85572 chr15 52245337 52245337 T C LEO1 Synonymous SNV K428K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.33 85573 chr11 124740980 124740980 C T rs35978862 ROBO3 Synonymous SNV C368C 0.032 0.029 0.034 12 38 11 0.031 10 0 0 0 0 Benign 12.62 85574 chr15 52635394 52635394 T A rs61731219 MYO5A Nonsynonymous SNV R1320S 0.016 0.016 0.024 4 19 6 0.01 7 0 0 0 0 Benign 21.7 85575 chr15 24922880 24922880 C A rs769667622 NPAP1 Synonymous SNV S622S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 85576 chr11 124749103 124749103 C T rs368839094 ROBO3 Nonsynonymous SNV P233L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 85577 chr16 1706627 1706627 C A rs374460296 CRAMP1 Synonymous SNV L623L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 7.679 85578 chr11 124765511 124765511 T G rs60888551 ROBO4 Nonsynonymous SNV Q148P 0.011 0.008 0.017 6 13 3 0.015 5 0 0 0 0 7.504 85579 chr16 1816343 1816343 G A rs201221610 MAPK8IP3 Nonsynonymous SNV G911R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.2 85580 chr3 133098806 133098806 C T rs34111099 TMEM108 Nonsynonymous SNV P84L 0.028 0.042 0.027 11 33 16 0.028 8 0 0 1 0 8.154 85581 chr16 1831446 1831446 G A rs148205331 SPSB3 Synonymous SNV F13F 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 14.16 85582 chr11 124847451 124847451 A T CCDC15 Nonsynonymous SNV Q236H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.304 85583 chr15 75185653 75185653 C G rs760911969 MPI Nonsynonymous SNV S171C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 29.9 85584 chr11 1250453 1250453 G A MUC5B Nonsynonymous SNV D344N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.677 85585 chr3 134078278 134078278 T C rs368824669 AMOTL2 Nonsynonymous SNV R709G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 85586 chr15 33359093 33359093 T C rs74655292 FMN1 Synonymous SNV K331K 0.02 0.031 0.027 8 24 12 0.021 8 0 1 0 0 Benign 0.008 85587 chr15 33381040 33381040 C G rs34718785 FMN1 Nonsynonymous SNV R668T 0.026 0.031 0.041 8 31 12 0.021 12 0 1 0 0 21 85588 chr14 51224261 51224261 C G rs139059875 NIN Nonsynonymous SNV V1163L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 0.002 85589 chr16 10989560 10989560 C G rs749556565 CIITA Nonsynonymous SNV F78L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.32 85590 chr15 34080588 34080588 C T rs55650127 RYR3 Synonymous SNV D3253D 0.014 0.016 0.017 1 16 6 0.003 5 0 0 0 0 Benign 13.67 85591 chr11 125821885 125821887 AAG - rs202167394 VSIG10L2 E472del 0 0 0.027 0 0 0 0 8 0 0 1 0 85592 chr15 34356152 34356152 G A rs74007678 CHRM5 Nonsynonymous SNV E412K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 9.609 85593 chr15 34393927 34393927 C T rs77698400 EMC7 Synonymous SNV G38G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 17.57 85594 chr15 78572654 78572654 C G DNAJA4 Nonsynonymous SNV P349R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 17.74 85595 chr16 21245083 21245083 G A rs774144258 ANKS4B Nonsynonymous SNV A9T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.5 85596 chr16 1143792 1143792 G A rs143577091 C1QTNF8 Synonymous SNV F156F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.846 85597 chr15 59911181 59911181 G A rs137968077 GCNT3 Synonymous SNV G248G 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 0.361 85598 chr16 2147374 2147374 C T rs146507511 PKD1 Nonsynonymous SNV D3450N 0 0.005 0.003 0 0 2 0 1 0 0 0 0 25.5 85599 chr11 125887165 125887165 G A rs138087778 CDON Nonsynonymous SNV P249L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 85600 chr16 2296877 2296877 C T rs141206306 ECI1 Nonsynonymous SNV G93S 0.011 0.029 0.003 3 13 11 0.008 1 0 0 0 0 29.4 85601 chr3 148459398 148459398 G A rs766645736 AGTR1 Synonymous SNV P192P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.015 85602 chr15 63882944 63882944 C T rs34527287 USP3 Synonymous SNV D450D 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 Benign 13.21 85603 chr11 1271705 1271705 C A rs374966515 MUC5B Nonsynonymous SNV T4532N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.564 85604 chr11 128396738 128396738 A G rs7117118 ETS1-AS1 0 0 0.221 0 0 0 0 65 0 0 7 0 3.094 85605 chr3 149245675 149245675 T A rs28763914 WWTR1 Nonsynonymous SNV T285S 0.023 0.008 0.024 9 27 3 0.023 7 0 0 0 0 11.62 85606 chr15 64067136 64067136 A T rs35471228 HERC1 Synonymous SNV L229L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.025 85607 chr15 64275866 64275866 C T rs62639966 DAPK2 Synonymous SNV R60R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.06 85608 chr14 51226634 51226634 C G rs201707941 NIN Nonsynonymous SNV E780D 0 0 0 3 0 0 0.008 0 0 0 0 0 26.8 85609 chr3 150387211 150387211 A - rs758495871 ERICH6 R312Efs*6 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 85610 chr15 65234711 65234711 C T rs377389557 ANKDD1A Synonymous SNV A305A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 85611 chr16 24828224 24828224 A G rs151084118 TNRC6A Nonsynonymous SNV N1591S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 14.52 85612 chr16 2636813 2636813 C T rs547797391 PDPK1 Nonsynonymous SNV S294L 0 0.005 0 0 0 2 0 0 0 0 0 0 22.3 85613 chr16 27078762 27078762 A C rs758225169 C16orf82 Nonsynonymous SNV Q149P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.611 85614 chr15 83451710 83451710 T A rs756881525 FSD2 Nonsynonymous SNV Q268L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 85615 chr15 83561519 83561519 G A HOMER2 Nonsynonymous SNV A27V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.7 85616 chr16 27375139 27375139 G A rs768558701 IL4R Nonsynonymous SNV M822I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.512 85617 chr5 1064287 1064287 G A rs781490697 SLC12A7 Nonsynonymous SNV R840C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 85618 chr14 60448667 60448667 T A LRRC9 Nonsynonymous SNV D660E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.8 85619 chr11 134029817 134029817 A G rs34720493 NCAPD3 Synonymous SNV A1279A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.165 85620 chr11 134055337 134055337 A C rs60929482 NCAPD3 Synonymous SNV T572T 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 0.397 85621 chr11 134095079 134095079 T C rs74462513 VPS26B Synonymous SNV S21S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 9.542 85622 chr16 2821579 2821579 G A rs367976124 ELOB Nonsynonymous SNV A127V 0 0.005 0 0 0 2 0 0 0 0 0 0 12.32 85623 chr11 134234269 134234269 A G rs114723326 GLB1L2 Nonsynonymous SNV T261A 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 0.051 85624 chr11 134238599 134238599 C T rs35217320 GLB1L2 Synonymous SNV F317F 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 16.72 85625 chr16 28592436 28592436 G C rs752580059 SGF29 Nonsynonymous SNV E16Q 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 24 85626 chr5 1338043 1338043 G A rs777524985 CLPTM1L Synonymous SNV L218L 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 6.592 85627 chr11 134239760 134239760 C T rs34063963 GLB1L2 Synonymous SNV D363D 0.007 0.003 0.014 3 8 1 0.008 4 0 0 0 0 10.61 85628 chr16 29802114 29802114 C T rs767984159 KIF22 Nonsynonymous SNV R12C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 85629 chr15 85478656 85478656 C T rs746698572 SLC28A1 Synonymous SNV N496N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.55 85630 chr15 72103874 72103874 A G rs563014885 NR2E3 Nonsynonymous SNV K57R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Uncertain significance 15.3 85631 chr15 42147892 42147892 C T rs574356509 SPTBN5 Nonsynonymous SNV E3025K 0.003 0 0 0 4 0 0 0 0 0 0 0 16.7 85632 chr11 17615279 17615279 C T rs776482697 OTOG Synonymous SNV H1100H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.73 85633 chr16 30543924 30543924 G A rs535232385 ZNF747 Nonsynonymous SNV R298W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 85634 chr15 42185616 42185616 C T rs757050881 SPTBN5 Nonsynonymous SNV R27Q 0.003 0 0 0 3 0 0 0 0 0 0 0 4.494 85635 chr11 1775353 1775353 G A rs776321697 CTSD Synonymous SNV S281S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 85636 chr11 18101972 18101972 A C rs200219042 SAAL1 Nonsynonymous SNV F467V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 85637 chr14 65550905 65550905 T C rs141396269 MAX Nonsynonymous SNV K86R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.185 85638 chr3 172163001 172163001 G A rs777016625 GHSR Synonymous SNV L351L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 6.747 85639 chr15 42742094 42742094 C A ZNF106 Nonsynonymous SNV E769D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.52 85640 chr3 175184826 175184826 T A rs757872462 NAALADL2 Nonsynonymous SNV W463R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 85641 chr16 3119020 3119020 A G rs371244098 IL32 Synonymous SNV R68R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.005 85642 chr3 180369283 180369283 G A rs183413880 CCDC39 Nonsynonymous SNV T358I 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.333 85643 chr3 182789102 182789102 C T rs201758122 MCCC1 Nonsynonymous SNV E62K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 85644 chr3 182871644 182871644 C T rs150142221 LAMP3 Synonymous SNV T195T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 85645 chr16 2086966 2086966 G A rs41292293 SLC9A3R2 Synonymous SNV P142P 0.005 0.018 0 2 6 7 0.005 0 0 1 0 0 4.417 85646 chr3 183226072 183226072 G A rs16857707 KLHL6 Synonymous SNV Y228Y 0.006 0.003 0.014 2 7 1 0.005 4 0 0 0 0 8.243 85647 chr16 2103372 2103372 C T rs45517098 TSC2 Synonymous SNV V36V 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign/Likely benign 10.04 85648 chr3 183226186 183226186 C T rs61447052 KLHL6 Synonymous SNV K190K 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 13.23 85649 chr3 183226213 183226213 A G rs16857710 KLHL6 Synonymous SNV A181A 0.007 0.003 0.014 2 8 1 0.005 4 0 0 0 0 1.336 85650 chr14 73729498 73729498 G A rs177386 PAPLN Nonsynonymous SNV G896R 0.038 0.063 0.027 13 45 24 0.033 8 2 1 0 0 0.234 85651 chr14 65528008 65528008 C T rs149796207 CHURC1-FNTB, FNTB Nonsynonymous SNV S431L 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 21.3 85652 chr3 183689394 183689394 C T rs199723380 ABCC5 Nonsynonymous SNV R101H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 85653 chr15 45392257 45392257 G A rs145502900 DUOX2 Nonsynonymous SNV R1059C 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 34 85654 chr16 2138086 2138086 C A rs45483700 TSC2 Synonymous SNV I1458I 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign/Likely benign 18.57 85655 chr15 78922087 78922087 G A rs780934865 CHRNB4 Nonsynonymous SNV T187M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.955 85656 chr16 3594282 3594282 C T rs371668578 NLRC3 Nonsynonymous SNV R940H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.61 85657 chr16 22360745 22360745 A C rs765463958 CDR2 Nonsynonymous SNV C121G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.09 85658 chr16 3614221 3614221 T C rs376611396 NLRC3 Synonymous SNV P239P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.019 85659 chr15 81295086 81295086 C T rs368204597 TLNRD1 Synonymous SNV H158H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 85660 chr3 184104864 184104864 A G rs145052186 CHRD Synonymous SNV P772P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.426 85661 chr14 75378542 75378542 C T rs529607300 RPS6KL1 Synonymous SNV V131V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.41 85662 chr16 231054 231054 C G rs779705914 HBQ1 Nonsynonymous SNV L126V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.017 85663 chr16 420045 420045 C T rs144667366 MRPL28 Synonymous SNV Q58Q 0 0.005 0 0 0 2 0 0 0 0 0 0 7.34 85664 chr16 426579 426579 C T rs146978632 PGAP6 Nonsynonymous SNV G290E 0 0.005 0 0 0 2 0 0 0 0 0 0 0.003 85665 chr5 39341369 39341369 A C rs121909593 C9 Nonsynonymous SNV C119G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Pathogenic 24.3 85666 chr15 84611805 84611805 C T rs61752778 ADAMTSL3 Nonsynonymous SNV P821S 0.014 0.013 0.01 9 16 5 0.023 3 1 0 0 0 24.4 85667 chr14 77275857 77275857 C T rs139554238 ANGEL1 Nonsynonymous SNV R65Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.49 85668 chr14 74413243 74413243 A T rs34834232 FAM161B Synonymous SNV V40V 0.026 0.013 0.017 6 30 5 0.015 5 0 0 0 0 0.002 85669 chr14 74413279 74413279 T C rs778147272 FAM161B Synonymous SNV T28T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.282 85670 chr14 74416698 74416698 C G rs11848954 FAM161B Nonsynonymous SNV G11A 0.026 0.013 0.017 6 31 5 0.015 5 0 0 0 0 0.956 85671 chr15 85327524 85327524 C T rs143880466 ZNF592 Synonymous SNV L540L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 7.477 85672 chr3 186954264 186954264 G A rs376490839 MASP1 Synonymous SNV A465A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.103 85673 chr11 27434338 27434338 C T rs144168526 LGR4 Synonymous SNV E85E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.72 85674 chr15 52901914 52901914 T C rs3751613 FAM214A Synonymous SNV Q406Q 0.014 0.013 0.017 0 17 5 0 5 0 0 0 0 0.006 85675 chr16 106581 106581 G A rs139562459 SNRNP25 Synonymous SNV E94E 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 11.27 85676 chr14 75276235 75276235 T G rs939384672 YLPM1 Synonymous SNV P1558P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.497 85677 chr11 2906197 2906208 CCGCGACCGGAG - rs565544512 CDKN1C A171_A174del 0.008 0.01 0.027 1 9 4 0.003 8 4 2 3 0 85678 chr16 48204843 48204843 T A rs145986516 ABCC11 Nonsynonymous SNV Q1245L 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 23.1 85679 chr16 48232185 48232185 T C rs143836185 ABCC11 Nonsynonymous SNV Y695C 0.002 0.003 0.014 2 2 1 0.005 4 0 0 0 0 23.5 85680 chr16 2820611 2820611 C T rs960561969 SRRM2 Synonymous SNV S2714S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.04 85681 chr11 31703352 31703352 C T rs10767903 ELP4 Synonymous SNV H387H 0.012 0.005 0.119 2 14 2 0.005 35 7 1 17 1 0.022 85682 chr14 75537568 75537568 A G rs34248766 ZC2HC1C Nonsynonymous SNV S98G 0.008 0.016 0 3 9 6 0.008 0 0 0 0 0 8.542 85683 chr16 50583384 50583389 GGATCG - rs769967206 NKD1 I38_G39del 0 0.003 0 0 0 1 0 0 0 0 0 0 85684 chr16 5061151 5061151 - C rs764657044 SEC14L5 Frameshift insertion S622Qfs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 85685 chr14 77493774 77493794 TGCTGCTGCTGCTGCTGCTGT - rs750077696 IRF2BPL Q121_Q127del 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 85686 chr16 29818592 29818592 C T rs780487188 MAZ Synonymous SNV T162T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.07 85687 chr16 29820945 29820945 A G MAZ Nonsynonymous SNV K455R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 85688 chr15 89388920 89388920 G A rs116981974 ACAN Synonymous SNV L412L 0.012 0.005 0.01 2 14 2 0.005 3 0 0 0 0 Benign 6.24 85689 chr16 53692694 53692694 A G rs138155747 RPGRIP1L Nonsynonymous SNV L447S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 85690 chr5 56777566 56777566 G A rs761628802 ACTBL2 Synonymous SNV P323P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.755 85691 chr5 58334922 58334922 G T rs16889108 PDE4D Nonsynonymous SNV P5T 0.014 0.01 0.007 2 17 4 0.005 2 0 0 0 0 Likely benign 7.121 85692 chr16 30748816 30748816 T C SRCAP Synonymous SNV P2485P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.004 85693 chr3 195516980 195516980 A G rs11923648 MUC4 Nonsynonymous SNV S491P 0.022 0.01 0.014 11 26 4 0.028 4 0 0 0 0 0.014 85694 chr14 81610002 81610002 C T rs150602845 TSHR Nonsynonymous SNV R534C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 85695 chr16 55905660 55905660 T A rs147327784 CES5A Synonymous SNV S98S 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 6.099 85696 chr14 81610526 81610526 G T rs145012289 TSHR Synonymous SNV G708G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.752 85697 chr16 30976101 30976101 G A rs146416377 SETD1A Synonymous SNV S346S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.06 85698 chr3 195517909 195517909 G A rs729593 MUC4 Nonsynonymous SNV T181I 0.021 0.01 0.014 11 25 4 0.028 4 0 0 0 0 0.108 85699 chr14 81743798 81743798 G A rs35768263 STON2 Synonymous SNV L619L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 4.329 85700 chr3 195594494 195594494 C T rs112384084 TNK2 Nonsynonymous SNV R909H 0.007 0.013 0 4 8 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 85701 chr16 31088201 31088201 G A rs149536969 ZNF646 Nonsynonymous SNV G186S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.023 85702 chr16 56782312 56782312 G A rs61756119 NUP93 Synonymous SNV T51T 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 14.32 85703 chr16 31105945 31105945 C A rs61742245 VKORC1 Nonsynonymous SNV D36Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 drug response 25.1 85704 chr5 68498758 68498758 T G CENPH Nonsynonymous SNV L150V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 85705 chr16 31138545 31138545 C T rs138118396 KAT8 Synonymous SNV I184I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.2 85706 chr5 68715712 68715712 A G rs139854607 MARVELD2 Nonsynonymous SNV Q167R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 85707 chr16 31151934 31151934 G T rs61976954 PRSS36 Synonymous SNV L677L 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 0.331 85708 chr11 4389340 4389340 G C OR52B4 Stop gain Y62X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 85709 chr16 31160529 31160529 C G PRSS36 Nonsynonymous SNV R46P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 32 85710 chr11 44193220 44193220 G A rs1022994973 EXT2 Synonymous SNV L444L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 85711 chr15 65676707 65676707 A G rs34967365 IGDCC4 Synonymous SNV A1131A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.2 85712 chr16 31439170 31439170 G A rs12240 COX6A2 Synonymous SNV P73P 0.032 0.047 0 13 38 18 0.033 0 3 1 0 1 3.587 85713 chr15 66621382 66621382 G A rs35711894 DIS3L Nonsynonymous SNV R633H 0.02 0.016 0.003 8 23 6 0.021 1 0 1 0 0 33 85714 chr16 57935442 57935442 G A rs112002818 CNGB1 Nonsynonymous SNV A955V 0.027 0.036 0.017 8 32 14 0.021 5 0 0 0 1 Likely benign 21 85715 chr14 92126208 92126208 G A rs377645915 CATSPERB Nonsynonymous SNV R469C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.3 85716 chr4 651284 651328 GTGCGGCGGGGCAGGACGTCCAGGGGTCACCCAGGGGTCACGGCT - rs768567008 PDE6B 0.023 0.036 0.01 8 27 14 0.021 3 0 0 0 0 85717 chr11 45949768 45949768 G A LARGE2 Nonsynonymous SNV A599T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 85718 chr16 58032138 58032138 G A rs62637701 ZNF319 Nonsynonymous SNV T11M 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 12.03 85719 chr15 68643659 68643659 G A rs61729770 ITGA11 Synonymous SNV S277S 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 12.82 85720 chr11 46564053 46564053 C T rs145466300 AMBRA1 Nonsynonymous SNV R505H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.3 85721 chr14 95898453 95898453 G T SYNE3 Nonsynonymous SNV T892K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.96 85722 chr15 69561064 69561064 G A GLCE Nonsynonymous SNV M188I 0.003 0 0 0 4 0 0 0 0 0 0 0 25.8 85723 chr16 1841334 1841334 G A IGFALS Nonsynonymous SNV T400I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 85724 chr16 1842483 1842483 C T rs563847398 IGFALS Nonsynonymous SNV R17H 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 21.3 85725 chr11 47297622 47297622 C G rs756980071 MADD Nonsynonymous SNV P278A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 85726 chr4 1165131 1165131 C T rs193114328 SPON2 Nonsynonymous SNV A122T 0.006 0.008 0 0 7 3 0 0 0 0 0 0 20.2 85727 chr15 100252719 100252724 CAGCAG - MEF2A Q351_Q352del 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 85728 chr16 67864396 67864396 G A rs56045040 CENPT Synonymous SNV N253N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.652 85729 chr4 1397574 1397574 C A rs532356178 NKX1-1 Nonsynonymous SNV A165S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 16.13 85730 chr16 19451443 19451443 G A rs745942427 TMC5 Nonsynonymous SNV G28E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.292 85731 chr15 73660178 73660178 G A rs768272301 HCN4 Nonsynonymous SNV P145L 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 22.8 85732 chr15 99511732 99511732 A G rs61743493 PGPEP1L Nonsynonymous SNV M189T 0.014 0.021 0.007 12 16 8 0.031 2 1 0 0 0 0.001 85733 chr14 95085686 95085686 G A rs113864331 SERPINA3 Synonymous SNV L266L 0.011 0.005 0.01 7 13 2 0.018 3 0 0 0 0 Benign 1.792 85734 chr16 4606605 4606605 A G rs199511761 C16orf96 Nonsynonymous SNV M39V 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 13.94 85735 chr16 46695696 46695696 T C rs145033509 VPS35 Synonymous SNV L715L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 4.698 85736 chr4 2306201 2306201 G A rs201345127 ZFYVE28 Synonymous SNV N592N 0.002 0 0 0 2 0 0 0 0 0 0 0 2.035 85737 chr15 74703022 74703022 G A rs2075592 SEMA7A Synonymous SNV A634A 0.041 0.034 0.088 15 48 13 0.038 26 1 0 1 0 7.731 85738 chr16 47694729 47694729 A G rs201360702 PHKB Nonsynonymous SNV N732S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.689 85739 chr15 74706943 74706943 G A rs1046146 SEMA7A Synonymous SNV V399V 0.041 0.034 0.088 15 48 13 0.038 26 1 0 1 0 11.68 85740 chr5 79032513 79032513 G A CMYA5 Nonsynonymous SNV C2642Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 85741 chr15 75320693 75320693 C G PPCDC Nonsynonymous SNV P12A 0.004 0 0 0 5 0 0 0 0 0 0 0 3.115 85742 chr16 706743 706743 C T rs77462824 WDR90 Synonymous SNV F738F 0 0.005 0 0 0 2 0 0 0 0 0 0 3.706 85743 chr4 3076654 3076655 GC - rs796916565 HTT Q35Afs*47 0.003 0 0.007 1 3 0 0.003 2 0 0 1 0 85744 chr4 3076657 3076657 G - rs771317442 HTT Q35Hfs*66 0.003 0 0.007 1 3 0 0.003 2 0 0 1 0 85745 chr15 29561415 29561415 G C rs147056589 NSMCE3 Synonymous SNV A165A 0.009 0.005 0.01 1 10 2 0.003 3 0 0 0 0 Benign 12.26 85746 chr16 12662448 12662448 G A rs143372184 SNX29 Nonsynonymous SNV E802K 0.034 0.049 0.017 13 40 19 0.033 5 0 1 0 0 32 85747 chr16 129562 129562 C T rs61753368 MPG Nonsynonymous SNV R55C 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 19.52 85748 chr16 50744968 50744968 C T rs104895476 NOD2 Synonymous SNV D355D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.66 85749 chr16 1394648 1394648 T G BAIAP3 Nonsynonymous SNV V533G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 85750 chr4 5755565 5755565 G A rs141859946 EVC Nonsynonymous SNV E457K 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.75 85751 chr16 1435246 1435246 C A rs569930948 UNKL Synonymous SNV P409P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.41 85752 chr16 736777 736777 G A rs77763943 WDR24 Synonymous SNV N433N 0 0.005 0 0 0 2 0 0 0 0 0 0 0.04 85753 chr16 74660382 74660382 T C rs143173893 RFWD3 Synonymous SNV P621P 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 0.109 85754 chr16 23569283 23569283 C T rs755109834 UBFD1 Nonsynonymous SNV P13L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 85755 chr15 79585800 79585800 C T rs369047222 ANKRD34C Synonymous SNV D58D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 6.049 85756 chr16 55584999 55584999 T C rs375477543 LPCAT2 Synonymous SNV F400F 0 0.005 0 0 0 2 0 0 0 0 0 0 6.3 85757 chr15 79606186 79606186 G A rs3784543 TMED3 Nonsynonymous SNV D86N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 85758 chr16 75269147 75269147 G A rs201978090 BCAR1 Synonymous SNV D340D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.713 85759 chr15 27725917 27725917 C T rs77771286 GABRG3 Synonymous SNV I232I 0.022 0.01 0.01 14 26 4 0.036 3 0 0 0 0 Benign 16.61 85760 chr16 15711250 15711250 C T rs370318220 MARF1 Nonsynonymous SNV D955N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 85761 chr16 2514631 2514631 C T rs72768723 TEDC2 Nonsynonymous SNV R422C 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 23.5 85762 chr4 7435305 7435305 A G rs61734061 PSAPL1 Synonymous SNV Y434Y 0.004 0 0.003 1 5 0 0.003 1 1 0 0 0 0.001 85763 chr16 2764145 2764145 C T rs75206622 PRSS27 Synonymous SNV V41V 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 7.118 85764 chr4 7436312 7436312 G A rs61733528 PSAPL1 Nonsynonymous SNV P99S 0.005 0 0.003 1 6 0 0.003 1 1 0 0 0 23.8 85765 chr15 31233952 31233952 C A rs200207167 MTMR10 Synonymous SNV L685L 0.003 0 0 8 4 0 0.021 0 0 0 0 0 12.85 85766 chr16 2813952 2813952 C G rs72768766 SRRM2 Nonsynonymous SNV D1141E 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Likely benign 11.57 85767 chr16 775089 775089 C T rs8055909 CCDC78 Synonymous SNV L183L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 5.564 85768 chr16 2868781 2868781 G A rs200208957 PRSS21 Nonsynonymous SNV V119I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 21.9 85769 chr4 8108360 8108360 C T rs759729637 ABLIM2 Synonymous SNV S5S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 16.37 85770 chr16 779435 779435 G C rs61746467 HAGHL Nonsynonymous SNV E250Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.132 85771 chr16 58001086 58001086 C T rs61997250 CNGB1 Synonymous SNV A35A 0.026 0.026 0.007 16 30 10 0.041 2 0 0 0 0 Likely benign 11.27 85772 chr15 40864088 40864088 C T rs146973760 RPUSD2 Nonsynonymous SNV R237W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 85773 chr15 41102150 41102150 C T rs199947417 ZFYVE19 Nonsynonymous SNV R185C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 85774 chr11 5199782 5199782 A G rs114010503 OR52Z1 Nonsynonymous SNV M20T 0.004 0.016 0.02 7 5 6 0.018 6 0 0 1 0 2.156 85775 chr16 1996704 1996704 C T rs376729938 RPL3L Synonymous SNV P291P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 85776 chr11 5221008 5221008 A C rs143609610 OR51V1 Nonsynonymous SNV I308S 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 24.7 85777 chr4 10446051 10446051 T C rs145878854 ZNF518B Synonymous SNV S634S 0.024 0.021 0.027 8 28 8 0.021 8 1 0 1 0 10.31 85778 chr15 40093574 40093574 G A rs150836804 GPR176 Nonsynonymous SNV P391L 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 15.78 85779 chr16 2079665 2079665 G A rs55864883 SLC9A3R2 Nonsynonymous SNV R99Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 85780 chr16 67298405 67298405 C T rs201186357 SLC9A5 Nonsynonymous SNV R564C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 85781 chr16 68025074 68025074 - AA rs780034740 DPEP2 Frameshift insertion A68Lfs*15 0 0.003 0 1 0 1 0.003 0 0 0 0 0 85782 chr15 40594203 40594203 C T rs200517392 PLCB2 Synonymous SNV K179K 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 17.04 85783 chr15 42145586 42145586 G A rs112040796 SPTBN5 Nonsynonymous SNV A3347V 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 0.015 85784 chr15 40917526 40917526 G C rs369221746 KNL1 Synonymous SNV P1688P 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.387 85785 chr16 845726 845726 G A rs200888038 CHTF18 Synonymous SNV T739T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.89 85786 chr16 845797 845797 G C rs61741082 CHTF18 Nonsynonymous SNV C763S 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 15.55 85787 chr16 3163463 3163463 C G rs137889671 ZNF205 Nonsynonymous SNV T11S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.795 85788 chr5 121188304 121188304 G C rs142495854 FTMT Nonsynonymous SNV V216L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.792 85789 chr16 85743879 85743884 GCTGCT - rs759324463 C16orf74 S20_S21del 0.007 0.016 0.01 0 8 6 0 3 0 0 0 0 85790 chr5 122734832 122734832 G T rs548355953 CEP120 Nonsynonymous SNV Q178K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.2 85791 chr15 41815028 41815028 A G rs147044139 RPAP1 Nonsynonymous SNV F893L 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 16.59 85792 chr16 24800948 24800948 G A rs748606564 TNRC6A Nonsynonymous SNV D329N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.21 85793 chr16 87637894 87637902 CTGCTGCTG - rs756750446 JPH3 A155_A157del 0.008 0.01 0.014 4 9 4 0.01 4 0 0 0 0 85794 chr16 87637902 87637902 - CTG JPH3 A157_V158insA 0.002 0.003 0 0 2 1 0 0 0 0 0 0 85795 chr16 2506748 2506748 C A CCNF Nonsynonymous SNV D388E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.707 85796 chr5 128796843 128796843 C T ADAMTS19 Nonsynonymous SNV A47V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 85797 chr15 43500471 43500471 A G rs150481419 EPB42 Synonymous SNV D374D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.633 85798 chr4 40123163 40123163 G A rs143339561 N4BP2 Synonymous SNV S1144S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.552 85799 chr16 722288 722288 A G rs138164898 RHOT2 Synonymous SNV G359G 0.02 0.023 0.003 16 23 9 0.041 1 0 0 0 0 2.304 85800 chr4 40440006 40440006 T C rs777068193 RBM47 Nonsynonymous SNV N302S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 85801 chr16 723506 723506 C T rs147973504 RHOT2 Nonsynonymous SNV P535L 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 16.46 85802 chr16 2871395 2871395 A T rs145169883 PRSS21 Nonsynonymous SNV N245I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 85803 chr5 135188338 135188338 G A rs61745845 SLC25A48 Synonymous SNV T83T 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 14.7 85804 chr16 2983402 2983402 C T rs186501101 FLYWCH1 Synonymous SNV D356D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 85805 chr15 43045273 43045273 C T rs201524659 TTBK2 Nonsynonymous SNV G724E 0.007 0.008 0.003 6 8 3 0.015 1 0 0 0 0 Benign 23 85806 chr11 56113901 56113901 C T rs145345631 OR8K1 Synonymous SNV Y129Y 0.006 0.003 0.003 7 7 1 0.018 1 0 0 0 0 11.52 85807 chr5 136961566 136961566 C A rs17171525 KLHL3 Synonymous SNV G455G 0.018 0.018 0.017 6 21 7 0.015 5 0 1 0 0 Benign 18.69 85808 chr16 88802748 88802748 C T rs61742623 PIEZO1 Synonymous SNV T455T 0.011 0.023 0.007 2 13 9 0.005 2 0 0 0 0 18 85809 chr16 767084 767084 C T rs147137746 METRN Synonymous SNV I193I 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 8.658 85810 chr16 77228321 77228321 G A MON1B Nonsynonymous SNV E43K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.9 85811 chr16 4751095 4751095 G C rs765193230 ANKS3 Nonsynonymous SNV A214G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 85812 chr16 88902168 88902168 G A rs117053987 GALNS Synonymous SNV A56A 0.009 0.01 0.003 3 10 4 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.152 85813 chr16 30723277 30723277 C T rs374756213 SRCAP Synonymous SNV S538S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.58 85814 chr15 44914977 44914977 T C rs142909555 SPG11 Synonymous SNV Q755Q 0.004 0 0 5 5 0 0.013 0 0 0 0 0 Likely benign 3.935 85815 chr15 50152475 50152475 A T rs16962989 ATP8B4 Nonsynonymous SNV N1165K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 23.9 85816 chr5 138261042 138261042 C T rs150965493 CTNNA1 Synonymous SNV S132S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 17.24 85817 chr5 139231211 139231211 G A rs149776989 NRG2 Nonsynonymous SNV R518C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 85818 chr15 51780232 51780232 A C rs35347764 DMXL2 Synonymous SNV A1076A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 0.274 85819 chr15 51868289 51868289 T C rs34998785 DMXL2 Synonymous SNV Q59Q 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 2.962 85820 chr15 51984362 51984362 A G rs35664837 SCG3 Star tloss M1? 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 7.121 85821 chr16 10551327 10551327 C T rs753480948 ATF7IP2 Synonymous SNV S431S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.89 85822 chr16 89351590 89351590 C T rs149569330 ANKRD11 Nonsynonymous SNV V454M 0 0.005 0 0 0 2 0 0 0 0 0 0 18.07 85823 chr11 56185023 56185023 C T rs149197985 OR5R1 Nonsynonymous SNV R229H 0.006 0.003 0.003 7 7 1 0.018 1 0 0 0 0 10.92 85824 chr15 50534966 50534966 T C rs145672878 HDC Nonsynonymous SNV I461V 0.005 0.01 0.003 4 6 4 0.01 1 0 0 0 0 Likely benign 0.001 85825 chr11 56309987 56309987 C T rs149604047 OR5M11 Synonymous SNV L249L 0.006 0.003 0.007 7 7 1 0.018 2 0 0 0 0 9.904 85826 chr16 3338552 3338552 C T ZNF263 Nonsynonymous SNV P290S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.12 85827 chr16 56868309 56868309 C T rs35762426 NUP93 Synonymous SNV N441N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.48 85828 chr15 57212168 57212168 C T rs939552279 TCF12 Synonymous SNV D19D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 14.19 85829 chr16 83994673 83994673 C G rs147759145 OSGIN1 Nonsynonymous SNV R162G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 85830 chr4 69962882 69962882 T A rs142000539 UGT2B7 Nonsynonymous SNV I215N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 85831 chr16 84028264 84028264 G A rs148631295 NECAB2 Nonsynonymous SNV A173T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.6 85832 chr5 140474825 140474825 G - rs782786014 PCDHB2 G151Efs*5 0.002 0 0 1 2 0 0.003 0 0 0 0 0 85833 chr15 53815479 53815479 C T rs754553703 WDR72 Synonymous SNV S49S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 16.3 85834 chr16 57775609 57775609 C T rs782077364 KATNB1 Synonymous SNV V17V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 19.89 85835 chr15 62146742 62146742 T C rs115819951 VPS13C Nonsynonymous SNV I3683V 0.009 0.008 0.01 2 10 3 0.005 3 0 0 0 0 Benign 23.1 85836 chr15 62212298 62212298 C T rs115481870 VPS13C Nonsynonymous SNV R2439H 0.011 0.023 0.014 2 13 9 0.005 4 0 0 0 0 24.8 85837 chr15 62226423 62226423 T G rs112236709 VPS13C Nonsynonymous SNV N1912H 0.011 0.018 0.024 2 13 7 0.005 7 1 0 0 0 0.502 85838 chr16 1485094 1485094 C T rs576984321 CCDC154 Nonsynonymous SNV R563Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 85839 chr15 62264912 62264912 T C rs147289587 VPS13C Nonsynonymous SNV K847R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.723 85840 chr16 4383398 4383398 G T rs72766563 GLIS2 Nonsynonymous SNV A75S 0.006 0 0.01 2 7 0 0.005 3 1 0 0 0 Benign/Likely benign 8.006 85841 chr16 4391463 4391463 C T rs144614425 CORO7-PAM16, PAM16 Nonsynonymous SNV R44Q 0.006 0 0.007 2 7 0 0.005 2 1 0 0 0 19.43 85842 chr4 76890550 76890550 A C SDAD1 Nonsynonymous SNV F259V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 85843 chr5 141358149 141358149 T C rs61748697 RNF14 Synonymous SNV N70N 0.006 0.005 0 8 7 2 0.021 0 0 0 0 0 2.986 85844 chr17 15554456 15554456 C T rs61741220 TRIM16 Synonymous SNV E156E 0.012 0.005 0.024 5 14 2 0.013 7 0 0 1 0 13.36 85845 chr15 62199580 62199580 T A rs9920256 VPS13C Synonymous SNV P2953P 0.02 0.018 0.031 18 23 7 0.046 9 1 0 0 0 6.358 85846 chr15 64388319 64388319 C T SNX1 Nonsynonymous SNV A36V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 85847 chr15 62244117 62244117 G A rs17238245 VPS13C Synonymous SNV V1411V 0.014 0.018 0.027 13 17 7 0.033 8 1 0 0 0 6.059 85848 chr11 574754 574754 C T rs12285890 LOC143666 0 0 0.007 0 0 0 0 2 0 0 1 0 1.375 85849 chr15 64444004 64444004 G A rs771377300 SNX22 Synonymous SNV G10G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.18 85850 chr11 574813 574813 C A rs12285942 LOC143666 0 0 0.007 0 0 0 0 2 0 0 1 0 6.323 85851 chr15 65147149 65147149 G C rs199594189 PLEKHO2 Nonsynonymous SNV E14D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.8 85852 chr15 63855154 63855154 A G rs139811650 USP3 Synonymous SNV A192A 0.002 0 0.003 5 2 0 0.013 1 0 0 0 0 11.64 85853 chr16 66819730 66819730 C T rs201401376 TERB1 Nonsynonymous SNV R220H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 34 85854 chr16 87451084 87451084 C T ZCCHC14 Synonymous SNV K455K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.42 85855 chr16 67435026 67435026 C A rs571642362 ZDHHC1 Nonsynonymous SNV A88S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 85856 chr5 146258290 146258290 - GCT rs142461655 PPP2R2B S19_C20insS 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 85857 chr16 4845948 4845948 G C rs1005975337 SMIM22 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 85858 chr16 18847848 18847848 A G rs777281376 SMG1 Synonymous SNV S2537S 0.002 0.01 0 0 2 4 0 0 0 0 0 0 5.549 85859 chr15 64970405 64970405 C T rs761408405 ZNF609 Nonsynonymous SNV R1165C 0 0 0 5 0 0 0.013 0 0 0 0 0 35 85860 chr16 88501145 88501145 C A rs199727372 ZNF469 Nonsynonymous SNV P2423T 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23 85861 chr16 50187872 50187872 A C rs578259267 TENT4B Nonsynonymous SNV N114H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 85862 chr11 5842032 5842032 T A OR52N2 Nonsynonymous SNV M156K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 85863 chr16 69143627 69143627 G A rs372849295 HAS3 Nonsynonymous SNV R110H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 85864 chr16 88505536 88505536 G C rs182269913 ZNF469 Nonsynonymous SNV Q3886H 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.027 85865 chr16 50583418 50583418 G T rs748521552 NKD1 Synonymous SNV S48S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.449 85866 chr16 88643620 88643620 G C rs368840643 ZC3H18 Nonsynonymous SNV R30T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.83 85867 chr4 87746685 87746685 C T SLC10A6 Nonsynonymous SNV M269I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 85868 chr4 88035907 88035907 C T rs61734705 AFF1 Nonsynonymous SNV S272F 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 2.399 85869 chr16 88722095 88722095 C T rs923061754 MVD Nonsynonymous SNV R216Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.229 85870 chr16 53331052 53331052 C T rs776748191 CHD9 Nonsynonymous SNV R1899C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 85871 chr17 18152711 18152711 G A rs150553463 FLII Synonymous SNV N541N 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 11.96 85872 chr16 20673168 20673168 A C rs377430734 ACSM1 Nonsynonymous SNV F314V 0.003 0.01 0 0 3 4 0 0 0 0 0 0 8.849 85873 chr4 89352440 89352440 A C rs150287504 HERC6 Nonsynonymous SNV M709L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 24.1 85874 chr17 1968967 1968967 T C rs2232487 SMG6 Nonsynonymous SNV N192S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.18 85875 chr11 60666651 60666651 G A rs147483370 PRPF19 Synonymous SNV G318G 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 14.67 85876 chr16 88870332 88870332 C T CDT1 Synonymous SNV S31S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 85877 chr16 733424 733424 C G rs72773413 JMJD8 Nonsynonymous SNV G107R 0.004 0.005 0.01 5 5 2 0.013 3 0 0 0 0 25.5 85878 chr16 57493600 57493600 G A rs76508383 COQ9 Nonsynonymous SNV D279N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 85879 chr16 57504989 57504989 A G rs148625597 POLR2C Synonymous SNV Q262Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.101 85880 chr15 73635945 73635945 C T rs146954200 HCN4 Synonymous SNV P330P 0.003 0 0 5 3 0 0.013 0 0 0 0 1 Likely benign 14.83 85881 chr11 610266 610266 G A rs376792320 PHRF1 Synonymous SNV G1445G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.327 85882 chr16 89261349 89261349 C T rs145092759 CDH15 Nonsynonymous SNV S744L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.1 85883 chr11 61249818 61249818 G T rs143171724 PPP1R32 Nonsynonymous SNV V49L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.002 85884 chr15 77907754 77907754 G A rs375230128 LINGO1 Synonymous SNV D165D 0.006 0.013 0 0 7 5 0 0 0 0 0 0 1.746 85885 chr16 24372801 24372801 G A CACNG3 Nonsynonymous SNV A189T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.7 85886 chr16 7629828 7629828 C T rs201282652 RBFOX1 Nonsynonymous SNV S127F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 85887 chr4 100203662 100203662 C T rs56191095 ADH1A Synonymous SNV V223V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.93 85888 chr16 89351930 89351930 C T rs142539117 ANKRD11 Synonymous SNV T340T 0.036 0.052 0.027 11 42 20 0.028 8 3 0 0 0 Benign 5.687 85889 chr16 89642364 89642364 G A rs763442506 CPNE7 Nonsynonymous SNV C20Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.51 85890 chr15 75198653 75198653 C A rs772206811 FAM219B Nonsynonymous SNV A90S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 18.06 85891 chr16 89986030 89986030 G A rs201192930 MC1R Nonsynonymous SNV V122M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 12.07 85892 chr4 104004073 104004073 C T rs60495707 BDH2 Synonymous SNV T182T 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 18.8 85893 chr17 2203742 2203742 T C rs773166889 SMG6 Nonsynonymous SNV N102S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 85894 chr15 75901899 75901899 C G rs148983993 SNUPN Nonsynonymous SNV D168H 0.003 0 0.003 5 3 0 0.013 1 0 0 0 1 20.6 85895 chr16 9892300 9892300 G A rs61753382 GRIN2A Synonymous SNV Y730Y 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 Benign/Likely benign 0.024 85896 chr16 784822 784822 C T rs373584108 CIAO3 Synonymous SNV L163L 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 6.467 85897 chr15 76494569 76494569 A G rs62030189 TMEM266 Nonsynonymous SNV S329G 0.003 0.005 0.003 5 3 2 0.013 1 0 0 0 1 22.9 85898 chr16 66881031 66881031 C A CA7 Nonsynonymous SNV Q47K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.579 85899 chr11 62483361 62483361 T G HNRNPUL2 Nonsynonymous SNV Y677S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 85900 chr16 67683449 67683449 A G rs118040419 CARMIL2 Nonsynonymous SNV I616V 0.012 0.016 0.02 2 14 6 0.005 6 1 0 0 0 25.9 85901 chr17 10395823 10395823 G A rs753589780 MYH1 Synonymous SNV A1910A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.626 85902 chr5 160061565 160061565 C A rs149397148 ATP10B Nonsynonymous SNV G365W 0.016 0.016 0.014 7 19 6 0.018 4 0 0 0 0 35 85903 chr16 28846447 28846447 C T rs373580404 ATXN2L Synonymous SNV I840I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.02 85904 chr15 78317621 78317621 T C TBC1D2B Nonsynonymous SNV K356E 0.001 0 0 5 1 0 0.013 0 0 0 0 1 6.017 85905 chr17 10531984 10531984 C T MYH3 Nonsynonymous SNV E1937K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 85906 chr16 67848293 67848293 C T rs146214814 TSNAXIP1 Stop gain R46X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.38 85907 chr16 68718588 68718588 G A rs34394404 CDH3 Nonsynonymous SNV V374I 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 Benign 16.51 85908 chr16 29857503 29857503 T A rs756639388 MVP Synonymous SNV T655T 0.007 0 0 0 8 0 0 0 0 0 0 0 12.08 85909 chr15 84657540 84657540 G C rs755908557 ADAMTSL3 Nonsynonymous SNV D1272H 0.009 0.003 0 0 10 1 0 0 0 0 0 0 24.4 85910 chr4 114458513 114458513 G T rs35367671 CAMK2D Nonsynonymous SNV D167E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 19.2 85911 chr16 84050268 84050268 C T rs200459710 SLC38A8 Nonsynonymous SNV D340N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.6 85912 chr17 15967432 15967432 C T rs1013043730 NCOR1 Nonsynonymous SNV R1740Q 0 0.005 0 3 0 2 0.008 0 0 0 0 0 24 85913 chr4 119978868 119978868 G A rs142439604 SYNPO2 Nonsynonymous SNV A1158T 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 4.642 85914 chr17 1631568 1631568 G A rs73292910 WDR81 Synonymous SNV L1105L 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 7.457 85915 chr5 170145795 170145795 T C rs770145353 KCNIP1 Nonsynonymous SNV V41A 0.007 0.01 0 7 8 4 0.018 0 0 0 0 1 26.7 85916 chr16 3142714 3142714 C T rs558823249 ZSCAN10 Nonsynonymous SNV G28S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.88 85917 chr17 33749860 33749860 A G SLFN12 Nonsynonymous SNV I63T 0 0.005 0 0 0 2 0 0 0 0 0 0 16.17 85918 chr17 18161945 18161945 G T rs145840264 FLII Nonsynonymous SNV F20L 0.014 0.018 0.017 9 17 7 0.023 5 0 0 0 0 22.3 85919 chr5 176638353 176638353 T A rs747480194 NSD1 Nonsynonymous SNV S985T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 7.382 85920 chr15 86791006 86791006 C T rs199894757 AGBL1 Stop gain R211X 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 39 85921 chr16 3705927 3705927 C T rs146770039 DNASE1 Synonymous SNV D75D 0.003 0 0 0 3 0 0 0 0 0 0 0 13.06 85922 chr16 3779329 3779329 C T rs199990883 CREBBP Nonsynonymous SNV A1869T 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.416 85923 chr4 134073746 134073746 G T rs201300041 PCDH10 Nonsynonymous SNV Q817H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 85924 chr16 3786700 3786700 T C CREBBP Nonsynonymous SNV K1466R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.58 85925 chr17 3567049 3567049 A G rs143045421 TAX1BP3 Nonsynonymous SNV L97P 0.017 0.016 0.014 8 20 6 0.021 4 0 0 0 0 23.9 85926 chr5 178293311 178293311 T C rs146919084 ZNF354B Nonsynonymous SNV S34P 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 0.152 85927 chr11 6591589 6591589 A C rs11603359 DNHD1 Synonymous SNV T4356T 0.005 0.01 0.014 4 6 4 0.01 4 0 0 0 0 Benign/Likely benign 0.017 85928 chr11 6592951 6592951 T C rs11604362 DNHD1 Nonsynonymous SNV I4666T 0.007 0.016 0.017 4 8 6 0.01 5 0 0 0 0 Likely benign 0.064 85929 chr17 35896117 35896117 A G SYNRG Synonymous SNV N1004N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.416 85930 chr11 66030379 66030379 C T rs201031084 KLC2 Synonymous SNV Y131Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 85931 chr5 178459993 178459993 G C rs766244526 ZNF879 Nonsynonymous SNV Q348H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.67 85932 chr11 66103267 66103267 G A rs760724156 RIN1 Synonymous SNV F88F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.43 85933 chr11 66191840 66191840 G C rs138708121 NPAS4 Synonymous SNV S283S 0.01 0.021 0.014 4 12 8 0.01 4 0 0 0 0 Benign 0.006 85934 chr4 147560557 147560557 A C rs148020860 POU4F2 Synonymous SNV R89R 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 3.144 85935 chr11 6621916 6621916 A G rs11603397 RRP8 Synonymous SNV N379N 0.008 0.013 0.017 4 9 5 0.01 5 0 0 0 0 2.919 85936 chr16 4519382 4519382 T G rs148847461 NMRAL1 Nonsynonymous SNV K42T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 9.679 85937 chr11 67174127 67174127 T C rs768267598 TBC1D10C Nonsynonymous SNV V166A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.539 85938 chr11 67203755 67203755 T C rs199865696 PTPRCAP Nonsynonymous SNV S24G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.005 85939 chr4 154519764 154519764 A G rs72729691 TMEM131L Nonsynonymous SNV M716V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 6.26 85940 chr15 90611533 90611533 C T rs144375764 ZNF710 Synonymous SNV F388F 0.009 0.008 0 7 11 3 0.018 0 0 0 0 0 11.69 85941 chr17 2203599 2203599 G C rs755361927 SMG6 Nonsynonymous SNV R150G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.47 85942 chr16 85667677 85667677 G A rs200574628 GSE1 Synonymous SNV A55A 0.003 0.01 0 0 3 4 0 0 0 0 0 0 14.18 85943 chr16 52068786 52068786 A G rs140320323 C16orf97 Nonsynonymous SNV L63P 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 2.906 85944 chr4 159624744 159624744 G A rs767046886 ETFDH 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 25.8 85945 chr16 53528254 53528254 A C rs778887599 AKTIP Nonsynonymous SNV V200G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.7 85946 chr4 159789555 159789555 G A rs34644827 FNIP2 Synonymous SNV E235E 0.013 0.01 0.007 3 15 4 0.008 2 1 0 0 0 5.355 85947 chr17 26708746 26708746 C A rs140811640 SARM1 Nonsynonymous SNV P331Q 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 23.9 85948 chr16 1129916 1129916 G A rs375126674 SSTR5 Nonsynonymous SNV A350T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 85949 chr16 11363003 11363003 C G rs71383203 TNP2 Nonsynonymous SNV Q39H 0.011 0.01 0.003 8 13 4 0.021 1 0 0 0 0 0.646 85950 chr17 27043980 27043980 G A rs140500150 RAB34 Stop gain Q177X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.073 85951 chr16 56686500 56686500 G A rs150778656 MT1B Nonsynonymous SNV A16T 0.011 0.016 0.003 4 13 6 0.01 1 0 0 0 0 3.514 85952 chr6 7378871 7378871 T C CAGE1 Synonymous SNV Q86Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 85953 chr16 88502011 88502011 G A ZNF469 Synonymous SNV Q2711Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.235 85954 chr16 57394393 57394393 T C rs41398344 CCL22 Nonsynonymous SNV Y40H 0.009 0.008 0 7 10 3 0.018 0 0 0 0 1 Likely benign 14.74 85955 chr16 88505407 88505407 - C ZNF469 Frameshift insertion R3846Pfs*70 0.001 0 0 0 1 0 0 0 0 0 0 0 85956 chr17 10368767 10368767 A G rs142071952 MYH4 Nonsynonymous SNV M166T 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 25.8 85957 chr17 10404966 10404966 A G rs151057376 MYH1 Nonsynonymous SNV I1098T 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 22.9 85958 chr11 72281888 72281888 G C rs576896030 LINC01537 0 0 0.003 0 0 0 0 1 0 0 0 0 2.821 85959 chr4 170912832 170912832 G A rs113299151 MFAP3L Synonymous SNV H206H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.025 85960 chr11 73785530 73785530 G T C2CD3 Synonymous SNV S1573S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.401 85961 chr17 10552930 10552930 - TGCTTGATCTC MYH3 Frameshift insertion G203Rfs*15 0.019 0.008 0 8 22 3 0.021 0 0 0 0 0 85962 chr17 10552932 10552932 - AACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGG MYH3 Frameshift insertion T202Pfs*45 0.016 0.008 0 8 19 3 0.021 0 0 0 0 0 85963 chr16 58031300 58031300 G A rs142912001 ZNF319 Synonymous SNV N290N 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 3.817 85964 chr16 88801621 88801621 G A rs146505418 PIEZO1 Nonsynonymous SNV R531C 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Uncertain significance 34 85965 chr16 89017620 89017620 C G rs71395352 LOC100129697 Nonsynonymous SNV P365R 0.004 0.005 0.01 4 5 2 0.01 3 0 0 0 0 4.566 85966 chr16 66764069 66764069 G C rs34706526 DYNC1LI2 Synonymous SNV T252T 0.008 0.003 0.003 4 9 1 0.01 1 0 0 0 0 12.99 85967 chr4 185038161 185038161 C T rs115082885 ENPP6 Nonsynonymous SNV V235I 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.1 85968 chr16 67876862 67876862 C T rs923210920 THAP11 Synonymous SNV P135P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 85969 chr16 135476 135476 C T rs769191 MPG Synonymous SNV T194T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.54 85970 chr16 1823276 1823276 G A rs764708145 EME2 Synonymous SNV R16R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.432 85971 chr16 1842354 1842354 G A rs199804680 IGFALS Nonsynonymous SNV P60L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Uncertain significance 22.1 85972 chr16 15931975 15931975 G A rs28570191 MYH11 Synonymous SNV F45F 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Benign 11.11 85973 chr17 3494286 3494286 G A rs200640999 TRPV1 Synonymous SNV N192N 0.009 0.016 0.003 2 11 6 0.005 1 0 0 0 0 Likely benign 12.23 85974 chr17 40255812 40255812 C T rs2074160 DHX58 Nonsynonymous SNV R523Q 0.009 0.005 0.01 4 11 2 0.01 3 0 0 1 0 10.52 85975 chr17 10409241 10409241 T C rs73974725 MYH1 Nonsynonymous SNV M688V 0.015 0.013 0.01 13 18 5 0.033 3 0 0 0 0 13.46 85976 chr16 1756349 1756349 G A rs139282045 MAPK8IP3 Synonymous SNV E3E 0 0 0.01 2 0 0 0.005 3 0 0 0 0 2.258 85977 chr4 187455308 187455308 G A rs759362137 MTNR1A Synonymous SNV F196F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 4.04 85978 chr4 187518172 187518172 C T rs72716245 FAT1 Synonymous SNV P4174P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 10.94 85979 chr17 17880933 17880933 G T rs367593570 DRC3 Synonymous SNV S7S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.271 85980 chr17 11660969 11660969 G C DNAH9 Nonsynonymous SNV D2319H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 85981 chr6 26158513 26158513 C T rs750700667 H2BC5 Nonsynonymous SNV S39L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 23.6 85982 chr4 187628205 187628205 G A rs757198124 FAT1 Nonsynonymous SNV T926I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 85983 chr17 18181258 18181258 T C rs201942380 TOP3A Nonsynonymous SNV N758S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 85984 chr17 1417231 1417231 A C rs61733750 INPP5K Synonymous SNV P29P 0.042 0.018 0.031 28 49 7 0.072 9 0 0 1 1 0.117 85985 chr17 36871888 36871888 C T rs201592199 MLLT6 Synonymous SNV S281S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.99 85986 chr16 2100429 2100429 A G rs144165984 TSC2 Nonsynonymous SNV N7S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.65 85987 chr6 27100176 27100176 G C rs144900182 H2BC11 Synonymous SNV A118A 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 8.169 85988 chr6 27420075 27420075 A C ZNF184 Nonsynonymous SNV N421K 0.005 0.008 0 7 6 3 0.018 0 0 0 0 0 18.97 85989 chr16 2017989 2017989 - CTGTGTGACTTTAGGCAAGTCACCTAACTTTTCCAAGCC rs753950433 RNF151 Stop gain A89delinsAVX 0 0 0 2 0 0 0.005 0 0 0 0 0 85990 chr17 42825758 42825758 C G rs111333759 DBF4B Nonsynonymous SNV L372V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.151 85991 chr11 9082019 9082019 C G rs545828647 SCUBE2 Synonymous SNV S301S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 85992 chr16 2283048 2283048 C T rs201773481 E4F1 Nonsynonymous SNV T307I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.55 85993 chr11 92531074 92531074 C T rs748433498 FAT3 Nonsynonymous SNV T1632M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.97 85994 chr16 23080375 23080375 C G rs113524001 USP31 Nonsynonymous SNV K1017N 0.008 0.005 0 0 9 2 0 0 0 0 0 0 15.57 85995 chr16 23091349 23091349 G A rs116126513 USP31 Synonymous SNV L698L 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 12.89 85996 chr16 23160057 23160057 C T rs139702277 USP31 Nonsynonymous SNV G179S 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 18.61 85997 chr17 38926621 38926621 C T rs117795478 KRT26 Nonsynonymous SNV D189N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 85998 chr11 93454831 93454831 - GT rs71064775 SCARNA9 0 0 0.136 0 0 0 0 40 0 0 0 0 85999 chr5 6632744 6632744 G A rs138716662 NSUN2 Synonymous SNV L74L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 11.8 86000 chr16 25182041 25182041 C T rs568089895 LCMT1 Nonsynonymous SNV R212W 0.004 0.01 0 0 5 4 0 0 0 0 0 0 35 86001 chr17 18022495 18022495 C G rs199520255 MYO15A Synonymous SNV L127L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.118 86002 chr16 20986729 20986729 A G DNAH3 Synonymous SNV V2649V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.12 86003 chr11 94760153 94760153 C T rs74484206 KDM4E Nonsynonymous SNV R478C 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 11.79 86004 chr17 18150086 18150086 T G rs200455487 FLII Nonsynonymous SNV K903T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.088 86005 chr11 95569450 95569450 T C MTMR2 Nonsynonymous SNV I544M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.18 86006 chr16 2139875 2139875 G A rs62038811 PKD1 Synonymous SNV P4254P 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Benign/Likely benign 7.92 86007 chr16 216351 216351 G A rs115665345 HBM Synonymous SNV G59G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 2.584 86008 chr16 21982936 21982936 G A rs11863893 UQCRC2 Nonsynonymous SNV R254H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 18.23 86009 chr6 35209353 35209353 C T rs3800381 SCUBE3 Nonsynonymous SNV S409L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 86010 chr16 81224299 81224299 G A rs952905420 PKD1L2 Nonsynonymous SNV P548S 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 7.543 86011 chr11 988619 988619 A G rs144441591 AP2A2 Nonsynonymous SNV N401S 0.006 0.003 0.014 0 7 1 0 4 0 0 1 0 20.6 86012 chr17 39323972 39323972 G A KRTAP4-3 Synonymous SNV R151R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.196 86013 chr6 35748947 35748947 C T rs187830491 CLPSL1 Synonymous SNV L20L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 6.553 86014 chr16 2283576 2283576 C T rs755989987 E4F1 Synonymous SNV A398A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.47 86015 chr12 100723038 100723038 G A rs780770090 SCYL2 Nonsynonymous SNV G568R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 86016 chr16 23096952 23096952 C T rs9932912 USP31 Nonsynonymous SNV A552T 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 33 86017 chr16 23200921 23200921 G A rs5736 SCNN1G Nonsynonymous SNV G183S 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 Benign/Likely benign 0.034 86018 chr16 837116 837116 C G rs2272898 RPUSD1 Nonsynonymous SNV E124Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 86019 chr17 47590272 47590272 C T rs151178709 NGFR Synonymous SNV S395S 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 Benign 20.3 86020 chr16 83711887 83711887 C T rs34697339 CDH13 Synonymous SNV D414D 0.021 0.021 0.034 3 25 8 0.008 10 0 1 0 0 Benign 11.32 86021 chr16 23700953 23700953 A C PLK1 Nonsynonymous SNV I522L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 86022 chr12 104142863 104142863 G A rs150613004 STAB2 Nonsynonymous SNV E2123K 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Likely benign 18.87 86023 chr6 38810160 38810160 C T DNAH8 Synonymous SNV L1278L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 86024 chr6 38854660 38854660 C T rs151260543 DNAH8 Nonsynonymous SNV L2568F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.236 86025 chr12 105380143 105380143 G A rs12580271 C12orf45 Nonsynonymous SNV G5S 0.014 0.01 0.024 5 16 4 0.013 7 0 0 0 0 9.013 86026 chr5 35712973 35712973 G A rs773002918 SPEF2 Nonsynonymous SNV A967T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 86027 chr5 35876112 35876112 A C rs771361407 IL7R Nonsynonymous SNV S302R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 86028 chr17 48603434 48603434 C T rs61753813 MYCBPAP Nonsynonymous SNV R674W 0.014 0.018 0.01 7 17 7 0.018 3 1 0 0 0 17.43 86029 chr16 31196420 31196420 C T rs151073460 FUS Synonymous SNV G227G 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 12.61 86030 chr5 36269538 36269538 C A rs771463436 RANBP3L Synonymous SNV R74R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 86031 chr17 2275701 2275701 C T rs185126674 SGSM2 Synonymous SNV S524S 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 Benign 13.07 86032 chr17 39728203 39728203 G A rs116077803 KRT9 Synonymous SNV S14S 0.003 0.01 0.007 2 3 4 0.005 2 0 0 0 0 Benign 9.048 86033 chr16 84494458 84494458 C T rs138039878 ATP2C2-AS1 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.88 86034 chr5 38528852 38528852 T A LIFR Nonsynonymous SNV D78V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 86035 chr16 31473777 31473777 G C rs377221865 ARMC5 Synonymous SNV L303L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 3.016 86036 chr17 2601273 2601273 G A rs147854747 CLUH Synonymous SNV C626C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.429 86037 chr5 39201957 39201957 G A rs201436179 FYB1 Nonsynonymous SNV T379M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 86038 chr5 40934471 40934471 G A rs34196526 C7 Synonymous SNV Q61Q 0.017 0.008 0.014 5 20 3 0.013 4 0 0 0 0 0.025 86039 chr17 263256 263495 GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGACGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCATCCACCCCGACCCCGAGGCTCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCTGAGGCCCTCAAGGGTTTCCACACTGACCCCGAGGCCCTCAAGGGTTTCCACATT - C17orf97 D220_P299del 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 86040 chr16 3274286 3274286 G T rs117151961 ZNF200 Nonsynonymous SNV S264Y 0.02 0.01 0.01 4 24 4 0.01 3 0 0 0 0 25.3 86041 chr16 84902475 84902475 A G rs201418783 CRISPLD2 Nonsynonymous SNV D291G 0.002 0 0 0 2 0 0 0 0 0 0 0 31 86042 chr5 40981542 40981542 A G rs747707439 C7 Nonsynonymous SNV E800G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.906 86043 chr16 85696618 85696618 C T rs16975770 GSE1 Synonymous SNV D660D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 10.57 86044 chr17 39964225 39964225 G C P3H4 Synonymous SNV A316A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 7.625 86045 chr16 3340462 3340462 G A rs150137943 ZNF263 Synonymous SNV T652T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.1 86046 chr5 41805770 41805770 C T rs766119402 OXCT1 Nonsynonymous SNV R99Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 86047 chr5 42711376 42711376 G A rs6177 GHR Nonsynonymous SNV R207H 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 86048 chr16 30582794 30582794 C G ZNF688 Nonsynonymous SNV D53H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.1 86049 chr5 43412375 43412375 G A rs774567128 CCL28 Nonsynonymous SNV A15V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.38 86050 chr17 33806842 33806842 G - rs143471015 SLFN12L L130Wfs*11 0.008 0.016 0.014 12 9 6 0.031 4 0 0 0 0 86051 chr5 43502528 43502528 C T rs35752576 C5orf34 Synonymous SNV G366G 0.019 0.01 0 10 22 4 0.026 0 0 0 0 0 14.63 86052 chr5 44809588 44809588 C G MRPS30 Nonsynonymous SNV P175R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 86053 chr6 43581984 43581984 A C POLH Nonsynonymous SNV K487T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.002 86054 chr17 41165802 41165802 G A rs146311145 IFI35 Nonsynonymous SNV R191H 0.015 0.013 0.031 6 18 5 0.015 9 0 0 1 0 13.23 86055 chr5 52194132 52194132 G C rs147933872 ITGA1 Nonsynonymous SNV A410P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.01 86056 chr16 4407235 4407235 A - CORO7, CORO7-PAM16 A789Lfs*24 0.003 0.005 0 0 3 2 0 0 0 0 0 0 86057 chr12 111291332 111291332 C T rs143432780 CCDC63 Nonsynonymous SNV R5W 0 0 0.01 0 0 0 0 3 0 0 0 0 34 86058 chr17 41610270 41610270 A T rs150119757 ETV4 Nonsynonymous SNV F156I 0.006 0.013 0.007 6 7 5 0.015 2 0 0 0 0 Benign 23.8 86059 chr17 3436058 3436058 T C rs142326624 TRPV3 Nonsynonymous SNV M320V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 14.96 86060 chr5 53815198 53815198 C T SNX18 Synonymous SNV R472R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 86061 chr17 57287667 57287667 T C rs12945128 SMG8 Synonymous SNV P85P 0.003 0.008 0 1 3 3 0.003 0 0 1 0 0 0.128 86062 chr16 46940754 46940754 G T GPT2 Nonsynonymous SNV G48V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 86063 chr16 88870350 88870350 C T rs587780304 CDT1 Synonymous SNV L37L 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 Benign 10.15 86064 chr12 113433150 113433150 C T rs45565242 OAS2 Synonymous SNV S166S 0.012 0.018 0.01 5 14 7 0.013 3 0 0 1 0 12.71 86065 chr17 60766983 60766983 C T rs374959587 MRC2 Synonymous SNV R1145R 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 16.24 86066 chr16 333220 333220 G A rs372717662 PDIA2 Synonymous SNV S17S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.837 86067 chr16 4845962 4845962 - CTGCTGCTGCTGGTCGTCGCCCA SMIM22 Frameshift insertion C58Wfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 86068 chr16 89016945 89016945 C T rs202218657 LOC100129697 Nonsynonymous SNV P140L 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 5.661 86069 chr5 56155672 56155672 A G rs56069227 MAP3K1 Nonsynonymous SNV N255S 0.015 0.018 0.037 13 18 7 0.033 11 0 0 0 0 Benign 13.24 86070 chr12 113825566 113825566 A G rs772412552 PLBD2 Nonsynonymous SNV H454R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 86071 chr12 117672428 117672428 C T rs192297868 NOS1 Synonymous SNV A723A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.881 86072 chr16 4945400 4945402 CTC - rs567914276 PPL E368del 0.003 0 0 0 3 0 0 0 0 0 0 0 86073 chr16 50259156 50259156 - GTC rs151171253 TENT4B S591_A592insS 0.011 0.008 0.02 3 13 3 0.008 6 0 0 0 0 86074 chr17 62291047 62291047 G A rs139358972 TEX2 Synonymous SNV A177A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 2.325 86075 chr17 63159160 63159160 G T rs779150943 RGS9 Nonsynonymous SNV M151I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.432 86076 chr17 64049981 64049981 G C rs146009782 CEP112 Nonsynonymous SNV A322G 0.019 0.016 0.003 5 22 6 0.013 1 1 0 0 0 32 86077 chr16 89836359 89836359 G A rs138248569 FANCA Nonsynonymous SNV A797V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 10.84 86078 chr16 52502433 52502433 G A rs544610654 TOX3 Synonymous SNV F47F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 86079 chr16 4431550 4431550 C T rs148925172 VASN Synonymous SNV S224S 0.002 0 0 5 2 0 0.013 0 0 0 0 0 3.084 86080 chr17 37944519 37944519 C G rs112301322 IKZF3 Nonsynonymous SNV G91A 0.014 0.01 0.014 2 17 4 0.005 4 0 0 0 0 0.087 86081 chr5 70811909 70811909 C A rs200647339 BDP1 Nonsynonymous SNV F1557L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.559 86082 chr17 38062503 38062503 T C rs35104165 GSDMB Nonsynonymous SNV D228G 0.018 0.013 0.014 2 21 5 0.005 4 0 0 0 0 10.1 86083 chr12 121880456 121880456 T C rs201910478 KDM2B Nonsynonymous SNV K861E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.38 86084 chr6 56918647 56918647 T C rs61740373 KIAA1586 Synonymous SNV I423I 0.003 0.01 0.048 6 4 4 0.015 14 0 0 0 0 1.442 86085 chr5 74043556 74043556 C T rs761283105 GFM2 Nonsynonymous SNV R190Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 35 86086 chr12 124189181 124189181 A T TCTN2 Nonsynonymous SNV D571V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.68 86087 chr12 124383261 124383261 C T rs61735917 DNAH10 Synonymous SNV D3062D 0 0 0.007 4 0 0 0.01 2 0 0 0 0 Benign 17.58 86088 chr16 58327658 58327658 G A rs751688176 PRSS54 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.329 86089 chr17 38926219 38926219 G A rs151150098 KRT26 Synonymous SNV N279N 0.017 0.013 0.02 2 20 5 0.005 6 0 0 0 0 2.827 86090 chr12 12630629 12630629 G A rs775499226 DUSP16 Nonsynonymous SNV A379V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 86091 chr17 48746269 48746269 C A rs11568599 ABCC3 Synonymous SNV P642P 0.006 0.008 0 8 7 3 0.021 0 0 0 0 0 9.507 86092 chr17 39081730 39081730 G A rs148318927 KRT23 Synonymous SNV L203L 0.014 0.013 0.02 5 17 5 0.013 6 0 0 0 0 Benign 3.902 86093 chr16 57246997 57246997 C T rs145688335 RSPRY1 Synonymous SNV A210A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 13.15 86094 chr12 130898703 130898703 C T RIMBP2 Synonymous SNV E873E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 86095 chr17 1703156 1703156 T C rs61753098 SMYD4 Nonsynonymous SNV H511R 0.024 0.026 0.01 7 28 10 0.018 3 0 0 0 0 7.207 86096 chr16 57507424 57507424 A G rs201608104 DOK4 Synonymous SNV P321P 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 10.14 86097 chr16 67144115 67144115 G A rs115599330 C16orf70 Nonsynonymous SNV G13R 0.027 0.016 0.024 14 32 6 0.036 7 2 0 0 0 25.5 86098 chr16 67198742 67198742 A G HSF4 Nonsynonymous SNV T10A 0.003 0 0 0 3 0 0 0 0 0 0 0 2.276 86099 chr16 68072032 68072032 G A DUS2 Nonsynonymous SNV A36T 0.003 0 0 0 3 0 0 0 0 0 0 0 33 86100 chr16 68355356 68355356 C T PRMT7 Synonymous SNV D41D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 86101 chr17 7256588 7256588 C G rs145819917 KCTD11 Synonymous SNV P109P 0 0.008 0 1 0 3 0.003 0 0 1 0 0 7.098 86102 chr17 39346632 39346632 C T rs112783535 KRTAP9-1 Nonsynonymous SNV P165L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 16.25 86103 chr5 89923441 89923441 A G rs186639101 ADGRV1 Synonymous SNV L362L 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.078 86104 chr6 90396682 90396682 G A MDN1 Synonymous SNV H3837H 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 10.54 86105 chr16 70508851 70508851 A G rs149607813 FCSK Nonsynonymous SNV T772A 0.009 0.016 0.01 3 11 6 0.008 3 1 0 0 0 Likely benign 0.001 86106 chr16 67218391 67218391 C T rs201102355 EXOC3L1 Nonsynonymous SNV R716H 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 23 86107 chr5 95236693 95236693 A G ELL2 Nonsynonymous SNV I278T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 86108 chr16 71686754 71686754 C T rs139380794 PHLPP2 Nonsynonymous SNV S852N 0.016 0.013 0.014 4 19 5 0.01 4 0 0 0 0 17.23 86109 chr17 60753789 60753789 C T rs145896776 MRC2 Synonymous SNV G577G 0 0.003 0.014 0 0 1 0 4 0 0 0 0 16.58 86110 chr16 72984616 72984616 G A rs142600441 ZFHX3 Nonsynonymous SNV R76C 0.007 0 0.003 5 8 0 0.013 1 0 0 0 0 26.2 86111 chr17 39674827 39674827 C T rs146785055 KRT15 Nonsynonymous SNV V85I 0.007 0.003 0 0 8 1 0 0 0 0 0 0 5.639 86112 chr12 15776134 15776134 C T rs761418186 EPS8 Synonymous SNV A771A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 19.1 86113 chr12 17141961 17141961 G A rs117054805 SKP1P2 0 0 0.02 0 0 0 0 6 0 0 0 0 5.066 86114 chr12 18719887 18719887 C T rs146312199 PIK3C2G Nonsynonymous SNV P1262S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 28.8 86115 chr5 108672996 108672996 G A rs139484791 PJA2 Nonsynonymous SNV A688V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 86116 chr17 62145572 62145572 C G rs748148094 ERN1 Synonymous SNV L186L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.097 86117 chr12 21201832 21201832 C T rs199934316 SLCO1B7 Nonsynonymous SNV T394I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 86118 chr6 107361143 107361143 A G rs148386621 MTRES1 Nonsynonymous SNV Y60C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.157 86119 chr16 77317856 77317856 G A ADAMTS18 Synonymous SNV I1049I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 86120 chr16 69776296 69776296 C T rs61731358 NOB1 Nonsynonymous SNV G393E 0.006 0 0 3 7 0 0.008 0 0 0 0 0 26.2 86121 chr17 64026001 64026001 T C CEP112 Synonymous SNV Q411Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.357 86122 chr6 109481776 109481776 G A rs139030777 CEP57L1 Nonsynonymous SNV E219K 0.012 0.01 0 3 14 4 0.008 0 0 1 0 0 23 86123 chr12 250578 250578 C T rs2291927 LOC574538 0 0 0.02 0 0 0 0 6 0 0 2 0 7.684 86124 chr17 4446412 4446412 G A rs144506752 MYBBP1A Synonymous SNV R896R 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 8.571 86125 chr12 26026988 26026988 G A rs11048315 MIR4302 0 0 0.211 0 0 0 0 62 0 0 10 0 1.06 86126 chr12 26275586 26275586 C T rs529390143 BHLHE41 Nonsynonymous SNV G288S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 86127 chr16 81208471 81208471 C T rs200408089 PKD1L2 Nonsynonymous SNV V193M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 86128 chr5 112769541 112769541 T C rs41459745 TSSK1B Synonymous SNV A332A 0.018 0.013 0.01 3 21 5 0.008 3 0 0 0 0 1.099 86129 chr17 41860581 41860581 G A rs182373632 CFAP97D1 Synonymous SNV V116V 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 11.31 86130 chr12 29598252 29598252 C T rs373361800 OVCH1 Nonsynonymous SNV R982Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.72 86131 chr17 67045477 67045477 G T ABCA9 Nonsynonymous SNV S84Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 86132 chr12 2967982 2967982 G A rs200806960 FOXM1 Nonsynonymous SNV P690L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 86133 chr12 2968380 2968380 G A rs745319066 FOXM1 Synonymous SNV A557A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 3.186 86134 chr17 42337247 42337247 C T rs147390654 SLC4A1 Nonsynonymous SNV R180H 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.903 86135 chr17 7700803 7700803 C A rs145214760 DNAH2 Nonsynonymous SNV L2679I 0 0.008 0.003 1 0 3 0.003 1 0 1 0 0 19.79 86136 chr5 115346573 115346573 T C rs145258522 LVRN Synonymous SNV D743D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 86137 chr16 72822350 72822350 C T rs771589873 ZFHX3 Synonymous SNV P2361P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 11.35 86138 chr16 84066963 84066963 G A rs200233980 SLC38A8 Nonsynonymous SNV P167L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 86139 chr5 122426096 122426096 C T PRDM6 Synonymous SNV A129A 0.003 0 0 0 3 0 0 0 0 0 0 0 21.9 86140 chr16 84164008 84164008 G A rs34611937 HSDL1 Synonymous SNV Y83Y 0.014 0.01 0.007 7 17 4 0.018 2 0 0 0 0 0.54 86141 chr17 7756747 7756747 G C rs557767608 KDM6B Nonsynonymous SNV A1653P 0 0.008 0.003 1 0 3 0.003 1 0 1 0 0 Benign 15.62 86142 chr17 29119490 29119490 C T rs141972436 CRLF3 Synonymous SNV P309P 0.005 0.021 0.003 4 6 8 0.01 1 0 0 0 0 17.02 86143 chr5 125887796 125887796 T C rs2306618 ALDH7A1 Nonsynonymous SNV T348A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.683 86144 chr17 4713176 4713176 C T PLD2 Synonymous SNV L238L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.56 86145 chr17 44248710 44248710 T C rs140181991 KANSL1 Nonsynonymous SNV K267R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 11.54 86146 chr17 7128200 7128200 C T rs146115467 ACADVL Synonymous SNV I586I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.65 86147 chr17 7139476 7139484 TCCTCTTCC - rs569508322 PHF23 E192_E194del 0.004 0.003 0 0 5 1 0 0 0 0 0 0 86148 chr17 7197581 7197581 G T rs189257850 YBX2 Nonsynonymous SNV P80Q 0.002 0.003 0 0 2 1 0 0 1 0 0 0 19.56 86149 chr17 33802111 33802111 G A rs766547706 SLFN12L Nonsynonymous SNV S533L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.936 86150 chr17 48653406 48653406 G A CACNA1G Nonsynonymous SNV G548D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.008 86151 chr17 78857700 78857700 G A rs61753566 RPTOR Synonymous SNV S590S 0.025 0.026 0.027 5 29 10 0.013 8 0 0 0 0 11.71 86152 chr17 5012914 5012914 A G rs150864883 ZNF232 Synonymous SNV P91P 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 7.411 86153 chr16 86612644 86612644 C G rs113108019 FOXL1 Nonsynonymous SNV D105E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 86154 chr17 72926660 72926660 C T rs61746106 OTOP2 Synonymous SNV Y310Y 0.03 0.029 0.041 17 35 11 0.044 12 1 0 0 1 0.136 86155 chr17 46877062 46877062 C T rs754608809 TTLL6 Synonymous SNV P224P 0.004 0.01 0 0 5 4 0 0 0 0 0 0 17.51 86156 chr6 133119551 133119551 A C SLC18B1 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.9 86157 chr17 79502217 79502217 C T rs367734858 FSCN2 Synonymous SNV H322H 0.024 0.026 0.007 11 28 10 0.028 2 2 0 0 1 Benign 8.742 86158 chr6 137814666 137814666 C A rs146880588 OLIG3 Synonymous SNV S214S 0.017 0.018 0.02 6 20 7 0.015 6 0 0 0 0 18.39 86159 chr17 5347709 5347709 T C rs181984938 DHX33 Nonsynonymous SNV H474R 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 6.715 86160 chr16 837609 837609 C G rs766691511 RPUSD1 Nonsynonymous SNV Q43H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 86161 chr12 49087282 49087282 C T rs61751602 CCNT1 Nonsynonymous SNV R572H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 86162 chr17 4804100 4804100 G A rs370019023 CHRNE Nonsynonymous SNV P302L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 86163 chr17 56056587 56056589 TGT - rs758441325 VEZF1 Q354del 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 86164 chr5 139680027 139680027 A G rs145830713 PFDN1 Synonymous SNV T58T 0.016 0.008 0.014 3 19 3 0.008 4 0 0 0 0 4.157 86165 chr6 146755704 146755704 G C rs1047008 GRM1 Synonymous SNV T1119T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.09 86166 chr17 48545984 48545984 G A rs763513264 CHAD Nonsynonymous SNV P64L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 86167 chr17 73911152 73911152 C T rs61739332 FBF1 Synonymous SNV R858R 0.008 0.013 0.003 2 9 5 0.005 1 0 0 0 0 18.4 86168 chr12 50748642 50748642 T C rs897044061 FAM186A Nonsynonymous SNV E658G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 86169 chr12 51054030 51054030 A G rs367778126 DIP2B Nonsynonymous SNV M119V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 86170 chr5 140683301 140683301 - T rs562886845 SLC25A2 Stop gain Y44* 0.005 0.016 0.003 4 6 6 0.01 1 0 0 0 0 86171 chr17 57970668 57970668 G C rs763484257 RPS6KB1 Nonsynonymous SNV E41D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.381 86172 chr5 140699057 140699057 G C rs2230133 TAF7 Synonymous SNV A185A 0.01 0.018 0.02 5 12 7 0.013 6 0 0 0 0 9.661 86173 chr6 150211089 150211089 G A rs371635040 RAET1E Nonsynonymous SNV T57M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 86174 chr12 51319231 51319231 - T rs751164869 METTL7A Frameshift insertion V138Cfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 86175 chr16 84495695 84495695 G A rs189686158 ATP2C2 Synonymous SNV P743P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 7.352 86176 chr17 38282624 38282624 C T rs28526298 MSL1 Synonymous SNV P319P 0.017 0.013 0.027 5 20 5 0.013 8 0 0 1 0 12.14 86177 chr5 140724591 140724591 G T rs72790006 PCDHGA3 Nonsynonymous SNV A331S 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 10.27 86178 chr17 38285693 38285693 C A rs143879261 MSL1 Synonymous SNV T396T 0.012 0.008 0.017 3 14 3 0.008 5 0 0 0 0 18.02 86179 chr17 4996300 4996300 A G rs201869640 ZFP3 Nonsynonymous SNV M501V 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 12.8 86180 chr17 38450248 38450248 G A rs4135012 CDC6 Nonsynonymous SNV D295N 0.012 0.008 0.014 3 14 3 0.008 4 0 0 0 0 Benign 34 86181 chr5 140732220 140732220 C A rs200777796 PCDHGB1 Nonsynonymous SNV P798H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 86182 chr12 51759334 51759334 C T rs370144553 GALNT6 Nonsynonymous SNV V232M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 86183 chr5 140739737 140739737 G C rs72790010 PCDHGB2 Nonsynonymous SNV R12P 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 0.701 86184 chr17 74236237 74236237 A C rs557317893 RNF157 Nonsynonymous SNV S29A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.4 86185 chr17 60469326 60469326 C T rs61751980 EFCAB3 Stop gain R99X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 24.7 86186 chr5 140745224 140745224 G A rs79266084 PCDHGA5 Nonsynonymous SNV A443T 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 0.904 86187 chr5 140751389 140751389 C T rs3749776 PCDHGB3 Synonymous SNV A476A 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 7.194 86188 chr5 140768709 140768709 G A rs72790030 PCDHGB4 Nonsynonymous SNV V420I 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 0.011 86189 chr5 140772941 140772941 T G rs11575958 PCDHGA8 Nonsynonymous SNV N187K 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 11.12 86190 chr5 140774270 140774270 A C rs138625114 PCDHGA8 Synonymous SNV R630R 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 0.002 86191 chr17 54587983 54587983 C T ANKFN1 Synonymous SNV L864L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.64 86192 chr17 5462636 5462636 G C rs141880804 NLRP1 Synonymous SNV T460T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 86193 chr5 140789158 140789158 G A rs72790040 PCDHGB6 Synonymous SNV E463E 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 0.038 86194 chr12 53012283 53012283 G T KRT73 Stop gain S9X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 86195 chr5 140869774 140869774 C T rs142098675 PCDHGC5 Nonsynonymous SNV R323C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 86196 chr5 140903792 140903792 G A rs2302102 DIAPH1 Synonymous SNV G1184G 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 Benign/Likely benign 13.15 86197 chr17 7606344 7606344 C T rs954125048 WRAP53 Synonymous SNV S434S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 11.18 86198 chr5 140953563 140953563 - GGAGGA rs761444075 DIAPH1 P611_L612insPP 0.011 0.008 0.017 6 13 3 0.015 5 0 0 0 0 86199 chr17 76130987 76130987 G T rs112802399 TMC8 Nonsynonymous SNV G342W 0.02 0.023 0.027 8 23 9 0.021 8 1 0 0 0 Benign 29.6 86200 chr6 157099799 157099799 G A rs375160616 ARID1B Nonsynonymous SNV G246S 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 23.4 86201 chr5 141025730 141025730 T G rs77115131 FCHSD1 Nonsynonymous SNV Q358P 0.012 0.008 0.02 6 14 3 0.015 6 0 0 0 0 23 86202 chr16 89644001 89644001 T C rs455527 CPNE7 Nonsynonymous SNV F77L 0.018 0.021 0.02 5 21 8 0.013 6 0 0 0 0 12.75 86203 chr16 89661807 89661807 C T rs12445560 CPNE7 Synonymous SNV G445G 0.02 0.016 0.034 6 24 6 0.015 10 0 0 0 0 18.28 86204 chr6 158485762 158485762 G A SYNJ2 Nonsynonymous SNV A210T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 86205 chr17 6493228 6493228 C T rs199909867 KIAA0753 Nonsynonymous SNV R587Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 1.834 86206 chr16 88724330 88724330 C T rs139545454 MVD Synonymous SNV L83L 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 11.95 86207 chr17 56833458 56833463 GAACCC - rs767114946 PPM1E P43_E44del 0.001 0 0 0 1 0 0 0 0 0 0 0 86208 chr17 56833463 56833463 - GAACCC PPM1E E44_S45insPE 0.001 0 0 0 1 0 0 0 0 0 0 0 86209 chr16 89986154 89986154 G A rs885479 MC1R Nonsynonymous SNV R163Q 0.017 0.005 0.02 4 20 2 0.01 6 1 0 0 0 Benign 9.407 86210 chr6 159457620 159457620 T C rs369913945 TAGAP Nonsynonymous SNV S416G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.32 86211 chr5 143549496 143549496 G C rs140450932 YIPF5 Nonsynonymous SNV N8K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.9 86212 chr17 66038392 66038392 C G rs11545989 KPNA2 Nonsynonymous SNV P165R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.4 86213 chr18 13885089 13885089 G A rs138421793 MC2R Synonymous SNV T143T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.179 86214 chr17 39502732 39502732 C T rs57495682 KRT33A Synonymous SNV T355T 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 13.78 86215 chr17 76802306 76802306 G A rs376077925 USP36 Synonymous SNV S716S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.6 86216 chr17 76921135 76921135 G A rs577686887 TIMP2 Synonymous SNV L12L 0.01 0.008 0 6 12 3 0.015 0 2 0 0 1 9.016 86217 chr17 7750010 7750010 G C rs79548905 KDM6B Nonsynonymous SNV E221D 0.032 0.034 0.02 13 37 13 0.033 6 0 0 1 1 13.27 86218 chr5 148685916 148685916 G A rs184818004 AFAP1L1 Nonsynonymous SNV A162T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.9 86219 chr17 11726171 11726171 C T rs34595876 DNAH9 Synonymous SNV V3022V 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 14.87 86220 chr16 89293834 89293834 C G rs746387104 ZNF778 Nonsynonymous SNV L352V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.7 86221 chr17 63010408 63010408 C T rs41306353 GNA13 Synonymous SNV L272L 0.011 0.021 0.01 1 13 8 0.003 3 0 0 0 0 Benign 10.12 86222 chr12 54349143 54349163 GGCGGCGGCGGTGGCGACGGC - rs552334211 HOXC12 G147_G153del 0 0 0.003 0 0 0 0 1 0 0 0 0 86223 chr17 12888086 12888086 G A rs143756943 ARHGAP44 Synonymous SNV S520S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.329 86224 chr12 54393774 54393774 G A rs12817092 HOXC-AS1 0 0 0.051 0 0 0 0 15 0 0 7 0 1.167 86225 chr5 149602707 149602707 T A CAMK2A Synonymous SNV S426S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.19 86226 chr16 89799797 89799799 GAA - rs531487697 ZNF276 K422del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 86227 chr17 39723597 39723597 G A rs148193621 KRT9 Synonymous SNV Y600Y 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Uncertain significance 6.535 86228 chr12 56583193 56583193 G A rs200089721 SMARCC2 Nonsynonymous SNV A18V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 86229 chr17 40061842 40061842 G A rs782588192 ACLY Synonymous SNV S312S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.42 86230 chr5 150924648 150924648 T C rs544760906 FAT2 Nonsynonymous SNV M2014V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 3.484 86231 chr17 1657702 1657702 C T rs951235958 SERPINF2 Synonymous SNV S386S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.23 86232 chr17 40318430 40318430 C T rs151296950 KCNH4 Synonymous SNV S575S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.69 86233 chr12 56737256 56737256 C A rs61754170 STAT2 Nonsynonymous SNV G825C 0.013 0.008 0.01 5 15 3 0.013 3 0 0 0 0 Benign 11.47 86234 chr12 56737257 56737257 A G rs61754171 STAT2 Synonymous SNV A824A 0.013 0.008 0.01 5 15 3 0.013 3 0 0 0 0 Benign 1.347 86235 chr17 79495707 79495707 C G rs184519759 FSCN2 Synonymous SNV P50P 0.001 0.01 0 0 1 4 0 0 0 1 0 0 Benign/Likely benign 6.498 86236 chr17 40612954 40612954 G A rs181018431 ATP6V0A1 Synonymous SNV Q14Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.314 86237 chr17 40695470 40695470 G A rs115994665 NAGLU Synonymous SNV R482R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.635 86238 chr17 72211846 72211846 T - rs142191918 TTYH2 L22Cfs*16 0.032 0.023 0.044 14 37 9 0.036 13 0 0 0 0 86239 chr17 40832447 40832447 G T rs144945136 CCR10 Synonymous SNV R71R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.993 86240 chr17 40841001 40841001 G C rs35437096 CNTNAP1 Nonsynonymous SNV V522L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 18.52 86241 chr17 72301501 72301501 G A rs59499600 DNAI2 Synonymous SNV P377P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 9.207 86242 chr12 57453694 57453694 G A rs150116734 NEMP1 Nonsynonymous SNV P362S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.761 86243 chr17 41152048 41152048 G A rs11538131 RPL27 Synonymous SNV K60K 0.013 0.01 0.014 9 15 4 0.023 4 1 0 0 0 Benign 13.69 86244 chr17 67287358 67287358 A G rs57367176 ABCA5 Synonymous SNV D535D 0.022 0.039 0.102 15 26 15 0.038 30 3 0 2 2 11.63 86245 chr5 154308094 154308094 A T rs747262767 GEMIN5 Nonsynonymous SNV C302S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.38 86246 chr17 41244524 41244524 C T rs1800704 BRCA1 Nonsynonymous SNV M961I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.016 86247 chr17 41244815 41244815 T C rs1800740 BRCA1 Synonymous SNV G864G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 0.136 86248 chr12 57873027 57873027 G C rs141513128 ARHGAP9 Nonsynonymous SNV R55G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 86249 chr17 41246567 41246567 T C rs1800063 BRCA1 Synonymous SNV T280T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 1.524 86250 chr7 1049749 1049749 C A rs34458355 C7orf50 Nonsynonymous SNV A54S 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 0.143 86251 chr17 41367866 41367866 T A rs141772241 TMEM106A Nonsynonymous SNV F112Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.8 86252 chr17 1559818 1559818 C T rs773087540 PRPF8 Synonymous SNV S1887S 0.007 0 0 2 8 0 0.005 0 0 0 0 0 15.39 86253 chr17 41857869 41857869 C T rs73987086 CFAP97D1 Synonymous SNV I13I 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 17 86254 chr17 41891656 41891656 G A rs547831243 MPP3 Synonymous SNV S386S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 5.491 86255 chr17 41895455 41895455 G A rs556742301 MPP3 Nonsynonymous SNV A327V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 18.58 86256 chr17 8045151 8045151 C T rs910718201 PER1 Nonsynonymous SNV G1191D 0 0.003 0 0 0 1 0 0 0 0 0 0 33 86257 chr18 3534224 3534224 C T rs35822832 DLGAP1 Nonsynonymous SNV R514Q 0.002 0.008 0.01 2 2 3 0.005 3 0 0 0 1 23.3 86258 chr5 159344677 159344677 C A rs996097042 ADRA1B Synonymous SNV I255I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.03 86259 chr17 42255679 42255679 G A rs140865656 ASB16 Nonsynonymous SNV R428Q 0.011 0.005 0.003 4 13 2 0.01 1 0 0 0 0 21.7 86260 chr7 2297387 2297387 G T rs765912150 SNX8 Nonsynonymous SNV L323M 0.006 0 0 5 7 0 0.013 0 0 0 0 0 13.85 86261 chr17 42767019 42767019 C G CCDC43 Nonsynonymous SNV V35L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 14.02 86262 chr17 42811497 42811497 T C rs62636633 DBF4B Nonsynonymous SNV L199S 0.01 0.008 0.003 11 12 3 0.028 1 0 0 0 0 1.702 86263 chr12 6442643 6442643 C T rs4149584 TNFRSF1A Nonsynonymous SNV R13Q 0.02 0.016 0.017 8 23 6 0.021 5 1 0 0 0 Conflicting interpretations of pathogenicity 15.3 86264 chr17 8221898 8221898 G A rs747972645 ARHGEF15 Nonsynonymous SNV R597H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 86265 chr17 42992513 42992513 G T rs115282391 GFAP Nonsynonymous SNV D114E 0.011 0.008 0.003 10 13 3 0.026 1 0 0 0 0 Benign/Likely benign 0.894 86266 chr17 43247151 43247151 G A rs200017941 HEXIM2 Nonsynonymous SNV R301H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 5.73 86267 chr17 18054453 18054453 G A rs16960961 MYO15A Synonymous SNV T2501T 0.016 0.005 0 14 19 2 0.036 0 0 0 0 0 Benign/Likely benign 10.65 86268 chr17 73559493 73559493 G A rs114747014 LLGL2 Nonsynonymous SNV V259M 0.006 0.005 0.017 2 7 2 0.005 5 0 0 0 0 8.089 86269 chr17 73565164 73565164 C T rs114832677 LLGL2 Synonymous SNV N476N 0.005 0.005 0.017 2 6 2 0.005 5 0 0 0 0 13.47 86270 chr17 73569706 73569706 G A rs199785141 LLGL2 Nonsynonymous SNV R957Q 0.003 0.005 0.017 2 4 2 0.005 5 0 0 0 0 0.324 86271 chr12 6761541 6761541 G - ING4 H158Tfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 86272 chr7 5112810 5112810 C G rs141207342 RBAKDN 0.009 0.016 0.003 4 11 6 0.01 1 0 0 0 0 3.827 86273 chr17 9792937 9792937 G A rs148610687 GLP2R Nonsynonymous SNV R526Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.56 86274 chr5 170215647 170215647 G A rs76296815 GABRP Nonsynonymous SNV V10M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.179 86275 chr17 9821372 9821372 C T rs35312933 GAS7 Synonymous SNV Q281Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 11.11 86276 chr17 18874439 18874440 AT - rs561246041 SLC5A10 M225Vfs*77 0.001 0 0 5 1 0 0.013 0 0 0 0 0 86277 chr17 18881605 18881605 C A rs201344489 FAM83G Nonsynonymous SNV Q458H 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Benign 25.8 86278 chr17 72725478 72725478 C G rs142549913 RAB37 Nonsynonymous SNV F52L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.3 86279 chr17 73830738 73830738 G C rs150861045 UNC13D Synonymous SNV L684L 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 Benign/Likely benign 9.304 86280 chr12 69198631 69198631 C T rs1144941 LOC100130075 0 0 0.027 0 0 0 0 8 0 0 0 0 16.17 86281 chr12 6993653 6993653 G A rs2269359 RPL13P5 0 0 0.241 0 0 0 0 71 0 0 12 0 6.209 86282 chr5 175833579 175833579 C T rs772027074 CLTB Nonsynonymous SNV R122H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.08 86283 chr17 46136751 46136751 G C rs2229370 NFE2L1 Synonymous SNV L659L 0.024 0.031 0.02 4 28 12 0.01 6 0 1 0 0 3.943 86284 chr12 7045178 7045178 G A rs148694613 ATN1 Nonsynonymous SNV G250S 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 18.73 86285 chr17 73008804 73008804 G T rs3744206 MRPL58 Nonsynonymous SNV R8L 0.021 0.018 0.014 6 25 7 0.015 4 0 1 0 0 10.48 86286 chr12 7053022 7053022 C T rs7965269 RNU7-1 0 0 0.163 0 0 0 0 48 0 0 14 0 6.35 86287 chr18 12814210 12814210 T C rs748912257 PTPN2 Nonsynonymous SNV S255G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.8 86288 chr5 176409574 176409574 G A rs13167812 UIMC1 Nonsynonymous SNV R15W 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 26.4 86289 chr17 74162548 74162548 C T rs11539879 RNF157 Nonsynonymous SNV G208R 0.033 0.021 0.034 15 39 8 0.038 10 1 0 0 0 34 86290 chr12 7281645 7281674 TTCCTGAGGAAGGAACCTGGAGCAGGATCC - rs148894272 RBP5 0 0 0.068 0 0 0 0 20 0 0 10 0 86291 chr12 7585977 7585977 G A rs117072358 CD163L1 Synonymous SNV N146N 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 1.983 86292 chr17 26875677 26875677 G C rs145710399 UNC119 Synonymous SNV V89V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 12.29 86293 chr17 75398417 75398417 A C rs200126434 SEPTIN9 Nonsynonymous SNV Q111P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.4 86294 chr17 26919497 26919497 T G rs143102475 SPAG5 Synonymous SNV A255A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.189 86295 chr17 75398418 75398418 G C rs200703014 SEPTIN9 Nonsynonymous SNV Q111H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.8 86296 chr17 26976071 26976071 A G rs147826873 SDF2 Nonsynonymous SNV M191T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.4 86297 chr17 73887286 73887286 G A rs774268272 TRIM65 Synonymous SNV A354A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.61 86298 chr18 59221838 59221838 G C CDH20 Nonsynonymous SNV Q772H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 86299 chr17 73887288 73887288 C G TRIM65 Nonsynonymous SNV A354P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 86300 chr17 47893218 47893218 A G rs139974135 KAT7 Synonymous SNV T133T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 6.98 86301 chr17 48069163 48069163 C T rs11868203 DLX3 Synonymous SNV P194P 0.018 0.01 0 11 21 4 0.028 0 1 0 0 0 Benign 10.57 86302 chr7 12689137 12689137 G A rs76638693 SCIN Nonsynonymous SNV D396N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 86303 chr12 80746116 80746116 T C rs183555119 OTOGL Synonymous SNV Y1760Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 0.357 86304 chr17 76488794 76488794 G A rs76641546 DNAH17 Synonymous SNV A2154A 0.015 0.018 0.007 10 18 7 0.026 2 0 0 0 0 10.91 86305 chr18 65179161 65179161 C T rs767005527 DSEL Synonymous SNV L895L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.65 86306 chr17 48916924 48916924 G A rs375564913 WFIKKN2 Nonsynonymous SNV R92H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 31 86307 chr12 93147901 93147901 C T rs74784157 PLEKHG7 Synonymous SNV H117H 0.077 0.057 0.068 41 90 22 0.105 20 2 0 1 2 15.76 86308 chr17 33328319 33328319 C A LIG3 Stop gain S792X 0.002 0 0 0 2 0 0 0 0 0 0 0 44 86309 chr18 6965341 6965341 G A rs142063208 LAMA1 Nonsynonymous SNV R2381C 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Likely benign 35 86310 chr18 7016579 7016579 C T rs141851670 LAMA1 Nonsynonymous SNV G967D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 29.9 86311 chr6 3456320 3456320 G A SLC22A23 Synonymous SNV T158T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.952 86312 chr7 30068411 30068411 T C PLEKHA8 Synonymous SNV Y11Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.994 86313 chr12 96379884 96379884 C T rs117991621 HAL Nonsynonymous SNV R161Q 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 33 86314 chr17 78223030 78223030 G A rs150834163 SLC26A11 Nonsynonymous SNV E534K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.4 86315 chr17 56400343 56400343 G A rs142903376 TSPOAP1 Nonsynonymous SNV R328W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 86316 chr17 3181517 3181517 C T rs201033738 OR3A2 Nonsynonymous SNV R238H 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 6.681 86317 chr12 98850156 98850156 T C rs143005305 SLC9A7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.95 86318 chr17 78323570 78323570 A G rs147785564 RNF213 Nonsynonymous SNV I3318V 0.017 0.008 0.003 6 20 3 0.015 1 0 0 0 0 Benign 0.06 86319 chr18 77474679 77474679 T C rs149090172 CTDP1 Nonsynonymous SNV W288R 0 0.008 0 1 0 3 0.003 0 0 0 0 0 0.018 86320 chr17 78354655 78354655 C T rs753565812 RNF213 Synonymous SNV T4555T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.69 86321 chr6 13014227 13014227 G C rs78088732 PHACTR1 Nonsynonymous SNV A37P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.24 86322 chr17 57262923 57262923 G A rs61754944 PRR11 Synonymous SNV K134K 0.006 0.005 0 0 7 2 0 0 0 0 0 0 18.55 86323 chr17 58531819 58531819 A G rs34357409 APPBP2 Synonymous SNV H323H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 7.739 86324 chr7 36366404 36366404 C T rs191576648 KIAA0895 Nonsynonymous SNV E497K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 86325 chr17 36483477 36483477 C T rs200936863 GPR179 Nonsynonymous SNV G1992D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.226 86326 chr13 103459829 103459829 C T rs753116764 BIVM, BIVM-ERCC5 Nonsynonymous SNV S71L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 86327 chr17 6021355 6021355 G A rs73347081 WSCD1 Nonsynonymous SNV V408I 0.006 0.01 0.027 4 7 4 0.01 8 0 0 0 0 23.3 86328 chr13 107164950 107164950 G C rs771469927 EFNB2 Synonymous SNV T111T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.829 86329 chr13 109472710 109472710 T A rs149704651 MYO16 Nonsynonymous SNV M298K 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 12.57 86330 chr17 60802366 60802366 A G MARCHF10 Synonymous SNV C679C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.272 86331 chr17 37676314 37676314 C T rs758539836 CDK12 Synonymous SNV V1023V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.56 86332 chr17 79991648 79991648 C T rs150811488 RAC3 Synonymous SNV R174R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 86333 chr17 61897316 61897316 T C rs780609940 FTSJ3 Nonsynonymous SNV H797R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.1 86334 chr6 25538188 25538188 C A rs12527029 CARMIL1 Nonsynonymous SNV R725S 0.007 0.008 0.014 4 8 3 0.01 4 0 0 0 0 26.9 86335 chr6 25600772 25600772 A G rs9885914 CARMIL1 Nonsynonymous SNV N1117S 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 0.014 86336 chr19 1009382 1009382 C T rs527728136 GRIN3B Synonymous SNV A971A 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 12.48 86337 chr18 56184162 56184162 C T ALPK2 Nonsynonymous SNV R1973K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 86338 chr17 38447398 38447398 T C CDC6 Synonymous SNV H89H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.015 86339 chr17 80684784 80684784 G A rs142718764 FN3KRP Nonsynonymous SNV V223I 0.015 0.013 0.014 4 18 5 0.01 4 2 0 0 0 24.4 86340 chr17 80708607 80708607 C T rs149413139 FN3K Synonymous SNV G302G 0.015 0.013 0.014 4 18 5 0.01 4 2 0 0 0 12.03 86341 chr17 38928323 38928323 G A rs201849759 KRT26 Stop gain R15X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 86342 chr13 112722063 112722074 GGCGGGGGCGGA - rs771858425 SOX1 G40_G43del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 86343 chr13 113201925 113201925 G A TUBGCP3 Nonsynonymous SNV R393C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.371 86344 chr13 113477698 113477698 A G rs756246398 ATP11A Synonymous SNV T255T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.916 86345 chr6 27840049 27840049 T C rs113997190 H3C11 Synonymous SNV K15K 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 1.072 86346 chr13 113803396 113803396 C T rs41286610 F10 Synonymous SNV P300P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 86347 chr6 28093263 28093263 G A rs34304311 ZSCAN16 Synonymous SNV L14L 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 4.206 86348 chr17 39036435 39036435 C T rs539218286 KRT20 Nonsynonymous SNV V237I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.49 86349 chr6 28227217 28227217 C T rs61737338 NKAPL Nonsynonymous SNV S23F 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 19.85 86350 chr17 39135178 39135178 C T KRT40 Synonymous SNV L358L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.52 86351 chr17 39221759 39221773 GCAGGGGGGCCGGCA - rs532535358 KRTAP2-4 C109_C113del 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 86352 chr17 39221816 39221816 C T rs200049107 KRTAP2-4 Stop gain W94X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 38 86353 chr17 79205672 79205672 G A rs61745844 TEPSIN Nonsynonymous SNV R226W 0.012 0.016 0.014 1 14 6 0.003 4 0 0 0 0 24.5 86354 chr17 79207787 79207787 G A rs78428832 TEPSIN Synonymous SNV A123A 0.012 0.016 0.014 1 14 6 0.003 4 0 0 0 0 11.03 86355 chr17 79213169 79213169 G A rs117893942 NDUFAF8 Synonymous SNV S2S 0.01 0.013 0 1 12 5 0.003 0 1 0 0 0 7.57 86356 chr17 79226230 79226230 C T rs3803766 SLC38A10 Synonymous SNV A570A 0.011 0.016 0.014 1 13 6 0.003 4 0 0 0 0 13.12 86357 chr17 79495707 79495707 C T rs184519759 FSCN2 Synonymous SNV P50P 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 9.767 86358 chr13 23471634 23471634 G A rs75229001 BASP1P1 0 0 0.014 0 0 0 0 4 0 0 1 0 3.998 86359 chr13 23471829 23471829 C G rs932936 BASP1P1 0 0 0.058 0 0 0 0 17 0 0 8 0 5.688 86360 chr13 23472268 23472268 T C rs7328194 BASP1P1 0 0 0.044 0 0 0 0 13 0 0 6 0 1.43 86361 chr17 38567394 38567394 T C rs34370875 TOP2A Synonymous SNV S390S 0.003 0 0 9 3 0 0.023 0 0 0 0 0 Benign 5.428 86362 chr18 63477206 63477206 G A rs17075229 CDH7 Synonymous SNV T159T 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 10.88 86363 chr19 11303924 11303924 T C rs149884897 KANK2 Nonsynonymous SNV M278V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 86364 chr6 35706235 35706235 C T rs145912136 ARMC12 Synonymous SNV T128T 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 15.43 86365 chr18 66506038 66506038 C T rs12954054 CCDC102B Synonymous SNV N234N 0.012 0.018 0 4 14 7 0.01 0 0 0 0 0 7.621 86366 chr18 13740205 13740205 A T rs373921702 RNMT Nonsynonymous SNV Y240F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.4 86367 chr17 80146185 80146185 T C rs7406116 CCDC57 Nonsynonymous SNV Q321R 0.023 0.021 0.024 10 27 8 0.026 7 1 0 0 0 23.2 86368 chr19 12126348 12126348 G A rs202067147 ZNF433 Nonsynonymous SNV T445M 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.7 86369 chr17 39296135 39296135 G A rs28405099 KRTAP4-6 Nonsynonymous SNV S202F 0.002 0 0.014 3 2 0 0.008 4 0 0 0 0 9.713 86370 chr19 12251073 12251073 G A rs201676513 ZNF625-ZNF20 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 15.87 86371 chr18 72005958 72005958 G A rs201160275 C18orf63 Synonymous SNV E170E 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 1.701 86372 chr17 72368177 72368177 G A rs141235360 GPR142 Nonsynonymous SNV R188H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.4 86373 chr19 12461019 12461019 G C rs138796747 ZNF442 Synonymous SNV P391P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.405 86374 chr13 32977829 32977829 G A rs376054055 N4BP2L1 Stop gain R179X 0 0 0.003 0 0 0 0 1 0 0 0 0 7.037 86375 chr6 39271881 39271881 C T rs41273126 KCNK17 Synonymous SNV A180A 0.011 0.003 0.01 1 13 1 0.003 3 0 0 0 0 9.752 86376 chr18 72775622 72775622 C T rs746193465 ZNF407 Nonsynonymous SNV P1982L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.04 86377 chr19 13373617 13373617 C A rs370735316 CACNA1A Synonymous SNV T1341T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 86378 chr6 39286820 39286820 A G rs61751240 KCNK16 Synonymous SNV F101F 0.011 0.005 0.01 1 13 2 0.003 3 0 0 0 0 2.787 86379 chr6 39286862 39286862 A G rs61750316 KCNK16 Synonymous SNV S87S 0.011 0.005 0.01 1 13 2 0.003 3 0 0 0 0 6.948 86380 chr6 39398931 39398931 C T rs61748649 KIF6 Nonsynonymous SNV R2K 0.009 0.008 0.003 2 11 3 0.005 1 0 1 0 0 10.01 86381 chr18 74154070 74154070 G A rs201724798 ZNF516 Nonsynonymous SNV P314L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.68 86382 chr13 39618302 39618302 T G rs9603498 NHLRC3 Nonsynonymous SNV L154R 0.01 0.008 0.017 0 12 3 0 5 0 0 0 0 31 86383 chr17 40315713 40315713 G A rs745704968 KCNH4 Synonymous SNV H796H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.258 86384 chr7 80378333 80378333 C T rs781658417 SEMA3C Nonsynonymous SNV A593T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 86385 chr18 76754226 76754226 G A rs117543046 SALL3 Synonymous SNV Q745Q 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 Benign 6.419 86386 chr17 72943155 72943155 G A rs200344748 OTOP3 Nonsynonymous SNV R384K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 86387 chr17 9549441 9549441 C T rs3744756 USP43 Synonymous SNV S164S 0.01 0.003 0.007 3 12 1 0.008 2 0 0 0 0 19.07 86388 chr18 77246562 77246562 G A rs772988184 NFATC1 Nonsynonymous SNV V331M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.84 86389 chr13 45983151 45983151 A G rs755780243 SLC25A30 Synonymous SNV D41D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.033 86390 chr19 14951970 14951970 G C OR7A10 Synonymous SNV T240T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.75 86391 chr17 42158204 42158204 G T rs139312109 HDAC5 Nonsynonymous SNV P886H 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 Benign 27.6 86392 chr17 42254508 42254508 G A rs199949093 ASB16 Synonymous SNV A324A 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 9.499 86393 chr13 47127606 47127606 T G rs201699098 LRCH1 Nonsynonymous SNV H25Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 86394 chr17 73695940 73695940 A C rs11558668 SAP30BP Nonsynonymous SNV N113H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 86395 chr17 73839585 73839585 G A UNC13D Nonsynonymous SNV H45Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.26 86396 chr17 43010064 43010064 G A rs57250020 KIF18B Synonymous SNV P405P 0.017 0.018 0.01 6 20 7 0.015 3 0 0 0 0 5.437 86397 chr17 43045321 43045321 G A C1QL1 Synonymous SNV C32C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 86398 chr6 44197456 44197456 A G rs72555353 SLC29A1 Nonsynonymous SNV N107S 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 19.01 86399 chr17 4443029 4443029 T G MYBBP1A Nonsynonymous SNV Q1223P 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 6.183 86400 chr17 4451274 4451274 G A rs771477442 MYBBP1A Synonymous SNV L601L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 14.25 86401 chr18 21496533 21496533 C T rs61751706 LAMA3 Synonymous SNV D934D 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign/Likely benign 13.22 86402 chr13 53624807 53624807 G A OLFM4 Synonymous SNV V478V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 86403 chr13 58207711 58207711 G T rs41292834 PCDH17 Nonsynonymous SNV R344L 0.005 0.01 0.007 1 6 4 0.003 2 1 0 0 0 21.5 86404 chr7 94540253 94540253 A G rs200186151 PPP1R9A Synonymous SNV A276A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 86405 chr18 43490652 43490652 T G rs144860976 EPG5 Nonsynonymous SNV N1347H 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.17 86406 chr17 45425180 45425180 A G rs150498027 EFCAB13 Nonsynonymous SNV H175R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.366 86407 chr17 45425181 45425181 T C rs577139493 EFCAB13 Synonymous SNV H175H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.98 86408 chr19 10434204 10434204 C G rs538462353 RAVER1 Synonymous SNV A265A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 86409 chr13 77532065 77532073 CAGAGGTAG - rs377059573 ACOD1 E465_A467del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 86410 chr18 55283063 55283063 G A rs181716261 NARS1 Nonsynonymous SNV R80W 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25.9 86411 chr19 1067610 1067610 C A rs977642488 ARHGAP45 Nonsynonymous SNV S13R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.29 86412 chr6 51484209 51484209 A G rs756198378 PKHD1 Synonymous SNV A3965A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.783 86413 chr13 99852952 99852952 C T rs7331894 UBAC2-AS1 0 0 0.065 0 0 0 0 19 0 0 2 0 18.6 86414 chr17 76490263 76490263 G T rs377563706 DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.626 86415 chr14 101138605 101138605 C T rs11849923 LINC00523 0 0 0.109 0 0 0 0 32 0 0 16 0 9.821 86416 chr19 17379674 17379674 C T BABAM1 Nonsynonymous SNV S20L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 86417 chr18 34398883 34398883 G A rs2303507 TPGS2 Nonsynonymous SNV R47C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 86418 chr17 45232137 45232137 T C rs61749925 CDC27 Synonymous SNV P183P 0.018 0.01 0.003 9 21 4 0.023 1 0 0 0 1 Benign 6.185 86419 chr6 56510765 56510765 C T rs752311823 DST Synonymous SNV K348K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 86420 chr19 12187001 12187001 A G rs61998199 ZNF844 Nonsynonymous SNV K356E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 21.5 86421 chr19 12243900 12243900 A G rs144638502 ZNF20 Synonymous SNV Y364Y 0.011 0.016 0 5 13 6 0.013 0 0 0 0 0 0.269 86422 chr17 4576332 4576332 G A rs566672712 PELP1 Nonsynonymous SNV P652S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 23 86423 chr18 44098219 44098219 C A rs535485519 LOXHD1 Nonsynonymous SNV V551F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 86424 chr17 78041415 78041415 A G CCDC40 Synonymous SNV A558A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.495 86425 chr18 44109266 44109266 T C LOXHD1 Synonymous SNV T261T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.823 86426 chr6 71665982 71665982 G C rs200678168 B3GAT2 Nonsynonymous SNV R51G 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 23.1 86427 chr19 13059169 13059169 C T RAD23A Nonsynonymous SNV S138L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 86428 chr17 78155264 78155264 C T rs9895931 CARD14 Synonymous SNV S9S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.446 86429 chr18 48575160 48575160 G A rs145988618 SMAD4 Synonymous SNV A118A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 9.616 86430 chr7 100550522 100550522 C G rs76664943 MUC3A Nonsynonymous SNV P368R 0.009 0 0 1 11 0 0.003 0 0 0 0 0 4.241 86431 chr19 18100533 18100533 C T rs778237066 KCNN1 Synonymous SNV N393N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.19 86432 chr19 1817259 1817259 C T rs183172046 REXO1 Nonsynonymous SNV G1054R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.226 86433 chr18 5145603 5145603 T G AKAIN1 Nonsynonymous SNV Q56H 0.004 0 0 0 5 0 0 0 0 0 0 0 24.1 86434 chr17 78321507 78321507 C T rs147834926 RNF213 Synonymous SNV G3124G 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 8.564 86435 chr19 15063789 15063789 C T rs770765624 SLC1A6 Nonsynonymous SNV G484S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 86436 chr18 55335390 55335390 G A rs897603954 LOC100505549 0.001 0 0 0 1 0 0 0 0 0 0 0 5.362 86437 chr19 18897440 18897440 T C rs61739916 COMP Nonsynonymous SNV N386D 0.045 0.063 0.034 12 53 24 0.031 10 0 1 0 0 Benign 24.7 86438 chr17 48051186 48051186 T A rs748128281 DLX4 Nonsynonymous SNV L129H 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 25 86439 chr17 48051191 48051191 T A rs201875580 DLX4 Nonsynonymous SNV S131T 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 18.71 86440 chr17 48051195 48051195 T A DLX4 Nonsynonymous SNV L132H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.2 86441 chr6 82461727 82461727 - CCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG TENT5A G45_G46insDFGGGDFGGGDFGGG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 86442 chr19 1912165 1912165 C T rs201103825 ADAT3 Nonsynonymous SNV A24V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.583 86443 chr19 15272238 15272238 G C rs994660882 NOTCH3 Synonymous SNV P2067P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.484 86444 chr19 15276739 15276739 A G rs16980398 NOTCH3 Synonymous SNV A1842A 0.009 0.008 0.014 1 10 3 0.003 4 0 0 0 0 Benign 3.798 86445 chr19 15290007 15290007 C T rs10408676 NOTCH3 Nonsynonymous SNV V1183M 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign 25.6 86446 chr19 15366205 15366205 G A rs17707730 BRD4 Synonymous SNV D650D 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 4.354 86447 chr6 89927015 89927015 A G rs145882788 GABRR1 Synonymous SNV F9F 0.003 0 0 0 3 0 0 0 0 0 0 0 6.288 86448 chr18 74616372 74616372 A C rs189873475 ZNF236 Nonsynonymous SNV Q644P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 24.1 86449 chr19 19625687 19625687 G C TSSK6 Nonsynonymous SNV L184V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 86450 chr19 19744692 19744692 G A rs117038725 GMIP Nonsynonymous SNV P769S 0.009 0.013 0.003 0 10 5 0 1 0 0 0 0 0.008 86451 chr14 20903543 20903543 A T rs112366857 KLHL33 Nonsynonymous SNV L143Q 0 0 0.16 0 0 0 0 47 0 0 5 0 14.27 86452 chr14 20916931 20916931 C T rs117300664 OSGEP Synonymous SNV G199G 0.014 0.018 0.01 2 16 7 0.005 3 0 0 0 0 13.74 86453 chr17 7950319 7950319 G A rs140623478 ALOX15B Nonsynonymous SNV R432Q 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 Uncertain significance 15.63 86454 chr19 16024620 16024620 G T rs1023022914 CYP4F11 Synonymous SNV R499R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.349 86455 chr18 77067183 77067183 C T rs11664381 ATP9B Synonymous SNV D574D 0.014 0.008 0.024 8 17 3 0.021 7 0 0 0 0 10.23 86456 chr7 81695842 81695842 - A rs370103843 CACNA2D1 0.006 0.008 0.02 4 7 3 0.01 6 0 0 0 0 86457 chr18 59157927 59157927 G A CDH20 Synonymous SNV L47L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.74 86458 chr19 21990711 21990711 T C ZNF43 Nonsynonymous SNV K645E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 86459 chr19 2223327 2223327 G A rs2286329 DOT1L Synonymous SNV P1146P 0.025 0.018 0.031 5 29 7 0.013 9 0 0 0 0 6.356 86460 chr14 21550222 21550222 G T rs370018068 ARHGEF40 Synonymous SNV G351G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.926 86461 chr19 2226772 2226772 G C rs2302061 DOT1L Nonsynonymous SNV V1418L 0.072 0.07 0.139 30 85 27 0.077 41 1 0 5 2 0.036 86462 chr19 2248152 2248152 T C rs59267791 SF3A2 Synonymous SNV P334P 0.009 0.005 0.003 5 11 2 0.013 1 1 0 0 0 0.005 86463 chr14 21560406 21560406 G A rs747976313 ZNF219 Synonymous SNV G350G 0 0 0.003 0 0 0 0 1 0 0 0 0 13 86464 chr17 79914868 79914868 G A rs556378468 NOTUM Stop gain R260X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 86465 chr19 2251796 2251796 T C rs754249770 AMH Nonsynonymous SNV V508A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 86466 chr18 60646017 60646017 C G rs182618661 PHLPP1 Nonsynonymous SNV L1503V 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 5.915 86467 chr19 23406317 23406317 G A ZNF724 Nonsynonymous SNV H244Y 0 0.003 0 0 0 1 0 0 0 0 0 0 17.93 86468 chr6 108029091 108029091 G A rs3734753 SCML4 Synonymous SNV H124H 0.009 0.018 0.01 2 10 7 0.005 3 0 0 0 0 13.13 86469 chr14 22887175 22887175 G A rs12888520 LOC105370401 0 0 0.078 0 0 0 0 23 0 0 8 0 2.589 86470 chr19 2408544 2408544 G A rs137891765 TMPRSS9 Nonsynonymous SNV V311M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 27.7 86471 chr19 2425056 2425056 C G rs549022484 TMPRSS9 Nonsynonymous SNV A891G 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 20.9 86472 chr18 61654183 61654183 G A rs149386291 SERPINB8 Nonsynonymous SNV V86I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 86473 chr17 80545038 80545038 T C rs185405224 FOXK2 Nonsynonymous SNV I559T 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 24.8 86474 chr19 2456877 2456877 C T rs3764582 LMNB2 Nonsynonymous SNV A19T 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign 22.3 86475 chr17 60742183 60742183 C T rs148665207 MRC2 Synonymous SNV S131S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.08 86476 chr19 2853532 2853532 A G rs138381021 ZNF555 Nonsynonymous SNV Y489C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 86477 chr7 100647933 100647933 C - MUC12 L4698Yfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 86478 chr17 56440642 56440642 C T rs76384648 RNF43 Synonymous SNV P65P 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 16.11 86479 chr19 30505829 30505829 A G rs146454221 URI1 Synonymous SNV V487V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.4 86480 chr17 56621223 56621223 T C rs746776556 SEPTIN4 Nonsynonymous SNV T109A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.373 86481 chr18 6971910 6971910 A G rs146148365 LAMA1 Nonsynonymous SNV I2282T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 86482 chr17 57775279 57775279 C T rs76310651 PTRH2 Nonsynonymous SNV V21I 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Likely benign 1.826 86483 chr19 32083584 32083584 C T rs116974986 THEG5 Nonsynonymous SNV P29L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.294 86484 chr18 72010906 72010906 A G rs571221758 C18orf63 Nonsynonymous SNV Y316C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 13.87 86485 chr17 6337404 6337404 G A rs11650007 AIPL1 Synonymous SNV F37F 0.009 0.003 0.01 12 11 1 0.031 3 0 0 0 0 Likely benign 8.675 86486 chr6 116443121 116443121 A C rs200692352 COL10A1 Nonsynonymous SNV I53R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.42 86487 chr19 33113470 33113470 T C ANKRD27 Nonsynonymous SNV N562S 0 0.003 0 0 0 1 0 0 0 0 0 0 23 86488 chr17 60030410 60030410 G A rs145247799 MED13 Synonymous SNV I2011I 0.008 0.005 0.01 7 9 2 0.018 3 0 0 0 0 Benign 14.3 86489 chr17 9632247 9632247 A G rs12450515 USP43 Synonymous SNV R1099R 0.05 0.055 0.031 20 59 21 0.051 9 4 0 0 0 0.02 86490 chr14 24709123 24709123 G A rs117234138 TINF2 Synonymous SNV N377N 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 Benign 1.821 86491 chr14 24724663 24724663 C T rs35312232 TGM1 Nonsynonymous SNV V518M 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 Benign/Likely benign 28.6 86492 chr7 107204275 107204275 C G rs146391348 COG5 Nonsynonymous SNV A54P 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 9.58 86493 chr17 61315209 61315209 C T rs147422041 TANC2 Synonymous SNV R194R 0.007 0.013 0.017 5 8 5 0.013 5 0 0 0 0 Benign 12.05 86494 chr14 24775626 24775626 G A rs148872765 CIDEB Nonsynonymous SNV T97M 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 31 86495 chr14 24785230 24785230 T A rs201954109 LTB4R Nonsynonymous SNV S125T 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 23.4 86496 chr14 24802018 24802018 G A rs3181252 ADCY4 Synonymous SNV G112G 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 22.3 86497 chr6 117591779 117591779 C G rs776762140 VGLL2 Synonymous SNV P155P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.67 86498 chr14 24971151 24971151 T C rs1956927 LOC101927045 0 0 0.024 0 0 0 0 7 0 0 2 0 3.265 86499 chr17 63159202 63159202 G A rs147874330 RGS9 Synonymous SNV Q165Q 0.013 0.005 0.017 4 15 2 0.01 5 0 0 0 0 Benign/Likely benign 5.496 86500 chr14 29247384 29247384 A T rs78640311 LINC01551 0 0 0.075 0 0 0 0 22 0 0 2 0 11.14 86501 chr14 31358596 31358596 A C rs2073205 LOC100506071 0 0 0.02 0 0 0 0 6 0 0 3 0 1.532 86502 chr14 31358602 31358602 C T rs4981082 LOC100506071 0 0 0.095 0 0 0 0 28 0 0 14 0 8.055 86503 chr19 11285230 11285230 C T rs202053134 KANK2 Nonsynonymous SNV A671T 0 0.005 0 0 0 2 0 0 0 0 0 0 28.3 86504 chr18 19371509 19371509 G A rs761958763 MIB1 Synonymous SNV A361A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.98 86505 chr19 18700281 18700281 T G rs773209840 REX1BD Nonsynonymous SNV C81G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.689 86506 chr19 11350892 11350892 C - rs771663022 ANGPTL8 R127Gfs*7 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 86507 chr7 127991882 127991882 G T rs537004624 PRRT4 Synonymous SNV G576G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 2.297 86508 chr19 11352169 11352169 G A rs375004104 ANGPTL8 Nonsynonymous SNV V170M 0.007 0.01 0 7 8 4 0.018 0 0 0 0 0 7.428 86509 chr19 11408931 11408931 C T rs371676449 TSPAN16 Synonymous SNV C61C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.944 86510 chr19 11453735 11453735 C T rs142660145 TMEM205 Nonsynonymous SNV R109H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 86511 chr19 19042798 19042798 C T rs74906645 HOMER3 Nonsynonymous SNV R190Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 86512 chr17 6719282 6719282 C T rs148724722 TEKT1 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.3 86513 chr17 67212409 67212409 A G rs141867184 ABCA10 Synonymous SNV H207H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.557 86514 chr19 12058336 12058336 A G rs376075 ZNF700 Synonymous SNV K69K 0.014 0.016 0.02 8 16 6 0.021 6 0 0 1 0 0.042 86515 chr19 12058341 12058341 G A rs77752522 ZNF700 Nonsynonymous SNV S71N 0.014 0.016 0.02 8 16 6 0.021 6 0 0 1 0 0.02 86516 chr18 23807027 23807027 G C rs78262333 TAF4B Nonsynonymous SNV A44P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 17.4 86517 chr19 12058342 12058342 T A rs371404 ZNF700 Nonsynonymous SNV S71R 0.014 0.016 0.02 8 16 6 0.021 6 0 0 1 0 0.527 86518 chr19 12089363 12089363 T C rs7253997 ZNF763 Synonymous SNV A86A 0.012 0.013 0.017 7 14 5 0.018 5 0 0 1 0 0.09 86519 chr19 36398454 36398454 G C rs111477177 TYROBP Synonymous SNV G30G 0.013 0.013 0.014 5 15 5 0.013 4 0 0 0 0 Likely benign 7.636 86520 chr19 12089364 12089364 G T rs7249379 ZNF763 Nonsynonymous SNV V87F 0.012 0.013 0.017 7 14 5 0.018 5 0 0 1 0 Benign 0.015 86521 chr19 12089549 12089549 T C rs7254258 ZNF763 Synonymous SNV S148S 0.012 0.013 0.017 7 14 5 0.018 5 0 0 1 0 0.003 86522 chr19 12089709 12089709 T C rs7254529 ZNF763 Nonsynonymous SNV Y202H 0.012 0.013 0.017 7 14 5 0.018 5 0 0 1 0 0.001 86523 chr6 136682219 136682219 T A MAP7 Nonsynonymous SNV K448M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 20.5 86524 chr19 12089743 12089743 C T rs7250795 ZNF763 Nonsynonymous SNV T213M 0.012 0.013 0.017 7 14 5 0.018 5 0 0 1 0 10.65 86525 chr19 12089805 12089805 C G rs7250894 ZNF763 Nonsynonymous SNV R234G 0.012 0.013 0.017 7 14 5 0.018 5 0 0 1 0 15.54 86526 chr6 138754175 138754175 C G rs545343558 NHSL1 Nonsynonymous SNV R440P 0.005 0.005 0 0 6 2 0 0 0 0 0 0 9.352 86527 chr19 12786449 12786449 G A rs35092999 WDR83 Nonsynonymous SNV R304Q 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 21.1 86528 chr19 12865821 12865821 C T rs17706412 BEST2 Synonymous SNV N204N 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 11.85 86529 chr19 10206953 10206953 A G rs559282550 ANGPTL6 Nonsynonymous SNV L96P 0.008 0 0 0 9 0 0 0 0 0 0 0 32 86530 chr19 10226492 10226492 G A rs569846791 EIF3G Synonymous SNV D236D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.92 86531 chr19 2248135 2248155 GTCCACCCCCCAGCTCCTGGA - rs747722910 SF3A2 A361_P367del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 86532 chr19 13065081 13065081 C G GADD45GIP1 Nonsynonymous SNV A204P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 86533 chr19 13246303 13246303 G A rs148939487 NACC1 Synonymous SNV V94V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.806 86534 chr18 29477770 29477770 G A rs17855000 TRAPPC8 Synonymous SNV L525L 0.021 0.013 0.02 5 25 5 0.013 6 0 0 0 0 10.55 86535 chr19 13395968 13395970 CTT - rs772989979 CACNA1A K1203del 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 86536 chr19 13411451 13411451 T G rs16019 CACNA1A Nonsynonymous SNV E732A 0.024 0.023 0.017 4 28 9 0.01 5 0 0 0 0 Benign 24.8 86537 chr18 29645930 29645930 A T rs150663325 RNF125 Nonsynonymous SNV R190S 0.011 0.008 0.017 2 13 3 0.005 5 0 0 0 0 Benign 24.6 86538 chr18 29848107 29848107 C T rs150643395 GAREM1 Synonymous SNV P786P 0.002 0.005 0 6 2 2 0.015 0 0 0 0 0 10.25 86539 chr19 2389793 2389793 A G rs8100709 TMPRSS9 Nonsynonymous SNV T4A 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 0.001 86540 chr19 2389813 2389813 C T rs8100380 TMPRSS9 Synonymous SNV L10L 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 9.969 86541 chr19 10570150 10570150 C T rs201557497 PDE4A Synonymous SNV T153T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.693 86542 chr19 10577687 10577687 G A rs146370645 PDE4A Nonsynonymous SNV R445Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.4 86543 chr19 14029985 14029985 G A rs201177183 CC2D1A Nonsynonymous SNV V398M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 86544 chr19 14048774 14048774 C T rs376555807 PODNL1 Nonsynonymous SNV V22I 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.212 86545 chr18 32822643 32822643 G A rs151211498 ZNF397 Nonsynonymous SNV R70Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.69 86546 chr19 38160742 38160742 T C rs149500211 ZNF781 Nonsynonymous SNV H103R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.246 86547 chr19 14104487 14104487 C T rs372275031 RFX1 Nonsynonymous SNV E57K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 86548 chr19 2425409 2425409 C G rs199844209 TMPRSS9 Nonsynonymous SNV T979S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.3 86549 chr7 139636013 139636013 G A rs41275018 TBXAS1 Synonymous SNV S58S 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign 11.96 86550 chr19 10692511 10692511 C T rs185906682 AP1M2 Nonsynonymous SNV R104Q 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 25.8 86551 chr19 2761473 2761473 A G rs113317230 SGTA Synonymous SNV P228P 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 0.021 86552 chr19 2934729 2934729 G T rs34184381 ZNF77 Nonsynonymous SNV H132Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.056 86553 chr19 2989173 2989173 C T rs76366031 TLE6 Synonymous SNV H162H 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 Benign 6.682 86554 chr14 58813155 58813155 T C rs200701889 ARID4A Synonymous SNV L336L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.332 86555 chr17 71746728 71746728 T C rs74977799 LOC100134391 0.013 0.018 0.014 8 15 7 0.021 4 0 0 0 0 2.445 86556 chr18 43205726 43205726 G A rs142465327 SLC14A2 Nonsynonymous SNV G77R 0.005 0.016 0 2 6 6 0.005 0 0 0 0 0 1.954 86557 chr19 38810700 38810700 G A rs189978547 KCNK6 Nonsynonymous SNV R37Q 0.003 0.008 0.007 6 3 3 0.015 2 0 0 0 0 28.5 86558 chr19 38875072 38875072 G A rs62123481 GGN Stop gain Q647X 0.018 0.013 0.017 2 21 5 0.005 5 0 0 1 0 Benign 40 86559 chr17 7216540 7216540 G A rs2270981 GPS2 Synonymous SNV F265F 0.034 0.042 0.037 12 40 16 0.031 11 2 0 0 0 12.53 86560 chr17 7220881 7220881 C T rs34688574 NEURL4 Nonsynonymous SNV R1404H 0.032 0.034 0.034 11 38 13 0.028 10 0 0 0 0 21.1 86561 chr19 38903399 38903399 G A rs117304824 RASGRP4 Synonymous SNV I342I 0.037 0.021 0.034 13 43 8 0.033 10 1 0 0 1 13.33 86562 chr14 59950207 59950207 C - rs201456145 L3HYPDH 0 0 0.02 0 0 0 0 6 0 0 0 0 86563 chr19 39087075 39087075 C T rs373602457 MAP4K1 Nonsynonymous SNV G665R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23 86564 chr18 46284690 46284690 A C rs768482675 CTIF Nonsynonymous SNV I329L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 2.194 86565 chr19 15483137 15483137 G A rs45479794 AKAP8 Nonsynonymous SNV R295C 0.004 0.018 0.01 0 5 7 0 3 0 0 0 0 Benign 34 86566 chr7 143140675 143140675 G A rs61750008 TAS2R60 Nonsynonymous SNV V44M 0.053 0.047 0.054 23 62 18 0.059 16 4 1 0 0 0.172 86567 chr19 15568617 15568617 A C RASAL3 Nonsynonymous SNV L306R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 86568 chr19 13259847 13259847 C T STX10 Nonsynonymous SNV R120K 0.003 0 0 0 3 0 0 0 0 0 0 0 19 86569 chr17 73812867 73812867 C T rs112695630 UNK Synonymous SNV D326D 0.021 0.021 0.017 8 25 8 0.021 5 0 0 0 0 15.87 86570 chr6 157256650 157256650 C T rs146240413 ARID1B Synonymous SNV P646P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 18.38 86571 chr6 157743741 157743741 T C rs187769654 TMEM242 Nonsynonymous SNV N62S 0.015 0.008 0 3 18 3 0.008 0 0 0 0 0 7.541 86572 chr19 3496653 3496653 G A DOHH Nonsynonymous SNV L54F 0 0.008 0 1 0 3 0.003 0 0 0 0 0 26.4 86573 chr19 3959444 3959444 G A rs56251209 DAPK3 Synonymous SNV R340R 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 5.694 86574 chr19 3963877 3963877 C T rs138197908 DAPK3 Synonymous SNV A198A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 12.95 86575 chr17 73915803 73915803 G A rs113062332 FBF1 Nonsynonymous SNV A695V 0.02 0.018 0.007 8 23 7 0.021 2 0 0 0 0 25.8 86576 chr14 64518321 64518321 A G rs11628107 SYNE2 Nonsynonymous SNV I2564V 0.004 0.005 0.02 1 5 2 0.003 6 0 0 0 0 Benign 0.016 86577 chr6 159058920 159058920 C T DYNLT1 Nonsynonymous SNV E12K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 86578 chr14 64519709 64519709 A T rs34843668 SYNE2 Nonsynonymous SNV E3026D 0.004 0.005 0.02 1 5 2 0.003 6 0 0 0 0 Benign 23.3 86579 chr19 14218166 14218166 G A rs56105247 PRKACA Synonymous SNV P110P 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 1 Benign 14.84 86580 chr19 39972581 39972581 G C rs114065046 TIMM50 Nonsynonymous SNV G56A 0.006 0.01 0 0 7 4 0 0 0 0 0 0 8.239 86581 chr19 39993663 39993663 C T rs192624990 DLL3 Synonymous SNV P206P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.236 86582 chr19 40023088 40023088 T G rs34110322 EID2B Synonymous SNV R119R 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 16.9 86583 chr19 16060572 16060572 C T rs141821832 OR10H4 Nonsynonymous SNV T252M 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 19.45 86584 chr18 55996254 55996254 C T NEDD4L Synonymous SNV N115N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 86585 chr14 64724051 64724051 C T rs1256049 ESR2 Synonymous SNV V328V 0.007 0.01 0.027 3 8 4 0.008 8 0 0 0 0 13.55 86586 chr19 1467904 1467904 G A rs755949052 APC2 Nonsynonymous SNV R1534H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 86587 chr7 149544897 149544897 G A rs149637534 ZNF862 Synonymous SNV P105P 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 7.194 86588 chr7 102962409 102962411 CTT - DNAJC2 K351del 0 0 0 1 0 0 0.003 0 0 0 0 0 86589 chr19 36033313 36033313 - AAGCTGGGGAGAGGTGCCCAGGGC rs558746420 GAPDHS 0 0.003 0 0 0 1 0 0 0 0 0 0 86590 chr6 160664680 160664680 G A rs8177515 SLC22A2 Synonymous SNV I401I 0.009 0.005 0.014 0 11 2 0 4 0 0 0 0 7.083 86591 chr19 41173889 41173889 C T rs947626346 NUMBL Synonymous SNV Q397Q 0.016 0.005 0.01 6 19 2 0.015 3 0 0 0 0 2.082 86592 chr19 41173896 41173898 TGT - rs59088184 NUMBL Q405del 0.016 0.005 0.01 6 19 2 0.015 3 0 0 0 0 86593 chr19 3613601 3613601 G C rs536985474 CACTIN-AS1 0 0.008 0 1 0 3 0.003 0 0 0 0 0 3.159 86594 chr6 161139337 161139337 C A PLG Nonsynonymous SNV P267T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 86595 chr19 36256028 36256028 G A rs368325986 PROSER3 Synonymous SNV S240S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.104 86596 chr19 41800483 41800483 G A HNRNPUL1 Synonymous SNV Q381Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.466 86597 chr17 76482056 76482056 C T rs201273328 DNAH17 Nonsynonymous SNV D2421N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.3 86598 chr19 17622405 17622405 G T rs578146111 LOC100507551 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.239 86599 chr18 61569020 61569020 C T rs141025441 SERPINB2 Synonymous SNV T194T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 8.917 86600 chr6 168461559 168461559 C T rs527760714 FRMD1 Synonymous SNV R340R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.64 86601 chr19 37487572 37487572 G A rs77831228 ZNF568 Nonsynonymous SNV D263N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 5.85 86602 chr19 42827940 42827940 C T rs141686253 TMEM145 Nonsynonymous SNV S481F 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 23.6 86603 chr14 75761222 75761222 A G rs3825701 LINC01220 0 0 0.068 0 0 0 0 20 0 0 10 0 4.528 86604 chr7 780999 780999 C A rs113374052 DNAAF5 Nonsynonymous SNV S307R 0.014 0.005 0.003 4 17 2 0.01 1 0 0 0 0 Benign 13.67 86605 chr19 37488450 37488450 C T rs780491385 ZNF568 Synonymous SNV Y555Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.16 86606 chr19 1621908 1621910 GAG - rs550914200 TCF3 S295del 0.006 0 0 1 7 0 0.003 0 0 0 0 0 86607 chr19 4298176 4298176 G A rs144025744 TMIGD2 Synonymous SNV I71I 0.003 0.013 0.01 1 4 5 0.003 3 0 0 0 0 4.125 86608 chr19 16222738 16222738 C T rs2233144 RAB8A Synonymous SNV F9F 0.012 0.003 0 2 14 1 0.005 0 0 0 0 0 15.1 86609 chr14 77492051 77492051 G A IRF2BPL Synonymous SNV D695D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.13 86610 chr8 1893803 1893803 G A rs201082852 ARHGEF10 Nonsynonymous SNV V1089I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.267 86611 chr17 74681232 74681232 A G rs200298746 MXRA7 Nonsynonymous SNV F184S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 86612 chr8 2071508 2071508 T G rs147916699 MYOM2 Synonymous SNV A1216A 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 9.685 86613 chr19 17007378 17007378 G T rs138669969 CPAMD8 Nonsynonymous SNV P1722T 0.02 0.01 0 9 23 4 0.023 0 0 0 0 0 23.4 86614 chr14 81259399 81259399 C T rs138323270 CEP128 Nonsynonymous SNV R422Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.984 86615 chr17 78176025 78176025 G A rs778055809 CARD14 Synonymous SNV S675S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.785 86616 chr18 72775956 72775956 G A rs192780750 ZNF407 Synonymous SNV A2093A 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 4.368 86617 chr17 76113632 76113632 G A TMC6 Synonymous SNV G705G 0 0 0 4 0 0 0.01 0 0 0 0 0 6.376 86618 chr19 17337936 17337936 G A rs754357081 OCEL1 Nonsynonymous SNV G127D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.087 86619 chr8 8748100 8748105 CAGCTC - MFHAS1 E822_L823del 0.001 0 0 0 1 0 0 0 0 0 0 0 86620 chr19 4446871 4446871 A G rs138342613 UBXN6 Nonsynonymous SNV I168T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 86621 chr14 91165558 91165558 A G rs184483521 LOC105370622 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 10.22 86622 chr14 91369290 91369290 G A rs774082309 RPS6KA5 Synonymous SNV A108A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 86623 chr17 7910817 7910817 C T rs61749682 GUCY2D Nonsynonymous SNV L513F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 86624 chr14 91744356 91744356 G A rs374587644 CCDC88C Synonymous SNV V1656V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.156 86625 chr8 10467168 10467168 C T rs76720252 RP1L1 Synonymous SNV P1480P 0.009 0.013 0.003 4 11 5 0.01 1 0 0 0 0 Benign 12.19 86626 chr14 93117992 93117992 C T rs143156231 RIN3 Nonsynonymous SNV R125W 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 23 86627 chr19 38876474 38876474 C T rs183192050 GGN Synonymous SNV L476L 0.006 0.005 0.003 2 7 2 0.005 1 1 0 0 0 13.04 86628 chr17 79226189 79226189 T C rs151017553 SLC38A10 Nonsynonymous SNV D584G 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 13.05 86629 chr17 79226359 79226359 C T rs370087351 SLC38A10 Synonymous SNV A527A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.66 86630 chr17 79256084 79256084 T C rs146598954 SLC38A10 Nonsynonymous SNV I136V 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 7.415 86631 chr17 79496295 79496295 T C rs34567655 FSCN2 Synonymous SNV P246P 0.013 0.013 0.01 5 15 5 0.013 3 0 0 1 0 Benign 0.001 86632 chr18 9887820 9887820 C A rs202175535 TXNDC2 Nonsynonymous SNV D448E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 86633 chr19 4475579 4475579 C G rs185764004 HDGFL2 Nonsynonymous SNV P96R 0.002 0.013 0.003 2 2 5 0.005 1 0 0 0 0 25.1 86634 chr17 79632327 79632327 C T rs137928765 OXLD1 Synonymous SNV E116E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.91 86635 chr19 17927754 17927754 C T rs121912556 INSL3 Nonsynonymous SNV R102H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Pathogenic 21.6 86636 chr17 79899432 79899432 G A rs111706382 MYADML2 Synonymous SNV F62F 0.017 0.031 0.01 1 20 12 0.003 3 0 2 0 0 0.802 86637 chr17 79982898 79982898 C G LRRC45 Nonsynonymous SNV L126V 0.009 0.016 0 1 11 6 0.003 0 0 2 0 0 11.48 86638 chr7 15405237 15405237 C T AGMO Nonsynonymous SNV A389T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 86639 chr14 95107145 95107145 T C rs56952063 SERPINA13P 0 0 0.031 0 0 0 0 9 0 0 1 0 0.333 86640 chr19 23937693 23937693 A G rs200272849 ZNF681 Nonsynonymous SNV I53T 0 0.005 0 0 0 2 0 0 0 0 0 0 19.55 86641 chr8 17407865 17407865 T C rs144865355 SLC7A2 Nonsynonymous SNV Y252H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 86642 chr17 78333902 78333902 T C rs201141064 RNF213 Nonsynonymous SNV M3699T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 9.082 86643 chr19 41255705 41255705 T C rs77405258 C19orf54 Nonsynonymous SNV T2A 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 10.91 86644 chr8 17613005 17613005 C A rs199783879 MTUS1 Nonsynonymous SNV Q104H 0.006 0.013 0.007 1 7 5 0.003 2 0 0 0 0 12.97 86645 chr15 100657068 100657068 T C rs765429070 ADAMTS17 Synonymous SNV T624T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.515 86646 chr17 8093136 8093136 G A rs528851609 BORCS6 Nonsynonymous SNV S108F 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.859 86647 chr8 17919201 17919201 A G rs751164282 ASAH1 Nonsynonymous SNV Y227H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 27.8 86648 chr15 101566220 101566220 A C rs199817137 LRRK1 Nonsynonymous SNV L761F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.393 86649 chr19 1047160 1047160 G A ABCA7 Nonsynonymous SNV G617E 0.003 0 0 0 4 0 0 0 0 0 0 0 28.8 86650 chr19 32845859 32845859 A G rs148274835 ZNF507 Nonsynonymous SNV Y708C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 27.4 86651 chr19 20135066 20135066 G T rs61739376 ZNF682 Synonymous SNV V9V 0.02 0.016 0.034 6 24 6 0.015 10 0 0 0 0 6.91 86652 chr19 20228760 20228760 C T rs782121122 ZNF90 Nonsynonymous SNV L133F 0.002 0 0 0 2 0 0 0 0 0 0 0 17.35 86653 chr7 23300367 23300367 A T GPNMB Nonsynonymous SNV R331S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 86654 chr7 23313807 23313807 G A rs35439325 GPNMB Synonymous SNV P561P 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Benign 9.932 86655 chr19 42219588 42219588 C G rs139219178 CEACAM5 Synonymous SNV T241T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.235 86656 chr17 8644854 8644854 C T rs2288156 CCDC42 Nonsynonymous SNV A144T 0.009 0.008 0.01 5 10 3 0.013 3 0 0 0 0 1.995 86657 chr17 8701217 8701217 C T rs143056359 MFSD6L Nonsynonymous SNV A408T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.87 86658 chr19 46281466 46281466 G A rs150521628 DMPK Synonymous SNV P109P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 86659 chr17 9143279 9143279 G A rs371521051 NTN1 Synonymous SNV K603K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.83 86660 chr19 10685627 10685627 T A AP1M2 Nonsynonymous SNV I378F 0.002 0 0 0 2 0 0 0 0 0 0 0 31 86661 chr15 25415694 25415694 G A rs1883008 SNHG14 0 0 0.119 0 0 0 0 35 0 0 11 0 8.366 86662 chr19 10745516 10745516 C T rs149933893 SLC44A2 Nonsynonymous SNV T301M 0.003 0 0 0 4 0 0 0 0 0 0 0 34 86663 chr15 25438472 25438472 C T rs373976153 SNHG14, SNORD115-13 0 0 0.003 0 0 0 0 1 0 0 0 0 6.086 86664 chr15 25463772 25463772 G T rs117995027 SNORD115-26 0 0 0.01 0 0 0 0 3 0 0 0 0 1.592 86665 chr15 25496350 25496350 G A rs2739805 SNHG14 0 0 0.02 0 0 0 0 6 0 0 0 0 0.311 86666 chr7 27204773 27204773 C G rs200450890 HOXA9 Nonsynonymous SNV A102P 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 17.73 86667 chr7 27222435 27222435 A C rs371730328 HOXA11 Nonsynonymous SNV S308A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 86668 chr8 22476752 22476752 G A rs139503366 CCAR2 Nonsynonymous SNV A870T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 86669 chr19 47151844 47151844 G C rs45499896 DACT3 Synonymous SNV P370P 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 9.123 86670 chr19 47228630 47228630 C T rs146309364 STRN4 Synonymous SNV A484A 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 16.09 86671 chr19 4361639 4361639 G A rs80251498 SH3GL1 Synonymous SNV F307F 0.009 0.013 0.024 5 10 5 0.013 7 0 0 0 0 Benign 7.95 86672 chr7 29924116 29924116 C T rs758998666 WIPF3 Nonsynonymous SNV P336S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 86673 chr19 47425553 47425553 C T rs372184901 ARHGAP35 Synonymous SNV Y1207Y 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 6.599 86674 chr15 34331077 34331077 - CGGCCA AVEN G58_F59insRG 0 0 0.003 0 0 0 0 1 0 0 0 0 86675 chr8 24300035 24300035 G T rs146117431 ADAM7 Nonsynonymous SNV K34N 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 23.3 86676 chr19 4818246 4818246 G A rs764485662 TICAM1 Synonymous SNV L48L 0.002 0.013 0.003 2 2 5 0.005 1 0 0 0 0 0.297 86677 chr15 36989578 36989578 C T rs117638434 C15orf41 Synonymous SNV N140N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 11.76 86678 chr15 39876530 39876530 G A rs142771626 THBS1 Synonymous SNV E311E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.31 86679 chr18 21114440 21114440 C A rs55724504 NPC1 Synonymous SNV A1187A 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 16.98 86680 chr19 36303552 36303552 G A rs200283246 PRODH2 Synonymous SNV L128L 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 5.447 86681 chr19 36546015 36546015 C T rs62109744 WDR62 Nonsynonymous SNV L48F 0.006 0.021 0.01 5 7 8 0.013 3 0 0 0 0 Benign/Likely benign 12.88 86682 chr7 40133979 40133979 T C rs17496805 CDK13 Synonymous SNV D1313D 0.003 0 0.01 0 4 0 0 3 0 0 0 0 0.064 86683 chr7 40174673 40174673 C A rs7793074 SUGCT Synonymous SNV S25S 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Benign 22.6 86684 chr18 28673540 28673540 C T rs180908546 DSC2 Nonsynonymous SNV E46K 0.006 0 0 0 7 0 0 0 0 0 0 0 Uncertain significance 18.38 86685 chr19 44636558 44636558 A G rs781409528 ZNF225 Synonymous SNV K597K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.416 86686 chr8 30889412 30889412 T C rs752205523 PURG Nonsynonymous SNV Y296C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25 86687 chr18 10487784 10487784 C A rs116143459 APCDD1 Synonymous SNV R432R 0.02 0.018 0.003 6 24 7 0.015 1 1 0 0 0 Benign 20.2 86688 chr7 43484275 43484275 G C rs61756576 HECW1 Nonsynonymous SNV E502Q 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 5.837 86689 chr15 41280029 41280029 G C rs768303769 INO80 Synonymous SNV A1238A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.749 86690 chr18 10855417 10855417 A G PIEZO2 Nonsynonymous SNV I284T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 86691 chr18 29867688 29867688 T C rs3744921 GAREM1 Nonsynonymous SNV K291R 0.015 0.01 0.017 4 18 4 0.01 5 1 0 0 0 11.06 86692 chr8 37696528 37696528 G T rs141853893 ADGRA2 Nonsynonymous SNV V772L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 86693 chr19 49341302 49341302 C T rs547665388 PLEKHA4 Synonymous SNV E683E 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.48 86694 chr8 37730017 37730017 G A rs16887092 RAB11FIP1 Nonsynonymous SNV A768V 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 0.325 86695 chr19 49631657 49631657 T C rs769461712 PPFIA3 Nonsynonymous SNV C92R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 86696 chr18 19429174 19429174 G A rs200809199 MIB1 Nonsynonymous SNV R804Q 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Uncertain significance 23 86697 chr19 15234223 15234223 C T rs34935425 ILVBL Synonymous SNV T100T 0.009 0.005 0.007 0 11 2 0 2 0 0 0 0 11.88 86698 chr19 35758620 35758620 G A rs139004765 LSR Nonsynonymous SNV E525K 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 24.7 86699 chr19 4538779 4538779 G C rs377200822 LRG1 Nonsynonymous SNV L73V 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 6.976 86700 chr19 45430250 45430250 G A rs201373658 APOC1P1 0.006 0.008 0.007 4 7 3 0.01 2 1 0 0 0 10.94 86701 chr18 34289285 34289285 G T rs61735998 FHOD3 Nonsynonymous SNV V630F 0.011 0.005 0 9 13 2 0.023 0 0 0 0 0 23.8 86702 chr19 50357968 50357968 C T rs778260462 PTOV1 Synonymous SNV A123A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.9 86703 chr19 38993607 38993607 C G rs142558977 RYR1 Synonymous SNV L2641L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.798 86704 chr19 16045104 16045104 A G rs142973676 CYP4F11 Nonsynonymous SNV Y39H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.438 86705 chr19 38996014 38996014 G A rs150388417 RYR1 Synonymous SNV R2792R 0.006 0.018 0.003 5 7 7 0.013 1 0 0 0 0 Benign/Likely benign 14.29 86706 chr15 44165368 44165368 C T rs146884659 FRMD5 0.007 0.005 0.017 2 8 2 0.005 5 0 0 0 0 15.25 86707 chr15 45453141 45453141 G A rs144438889 DUOX1 Nonsynonymous SNV R1270Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 86708 chr18 44118278 44118278 G C rs533251927 LOXHD1 Synonymous SNV L105L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.363 86709 chr19 36641932 36641932 A G rs1803370 COX7A1 Synonymous SNV T64T 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 0.012 86710 chr19 36674283 36674283 A G rs61741493 ZNF565 Synonymous SNV F130F 0.011 0.01 0.01 4 13 4 0.01 3 0 0 0 0 1.172 86711 chr18 44140244 44140244 C G rs548893604 LOXHD1 Nonsynonymous SNV E955Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 12.1 86712 chr19 50983377 50983377 G A rs142420885 EMC10 Nonsynonymous SNV A103T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21 86713 chr19 36674349 36674349 C T rs61743957 ZNF565 Synonymous SNV G108G 0.011 0.01 0.01 4 13 4 0.01 3 0 0 0 0 9.936 86714 chr18 44661001 44661001 C T rs757468260 HDHD2 Nonsynonymous SNV R59K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 86715 chr19 39915662 39915662 G C rs202077408 PLEKHG2 Nonsynonymous SNV G1297R 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Likely benign 27.1 86716 chr18 46284597 46284597 C A rs193022476 CTIF Nonsynonymous SNV R298S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.03 86717 chr8 73142438 73142438 C T rs276657 LOC392232 0.009 0.005 0 3 10 2 0.008 0 1 0 0 0 0.917 86718 chr19 40421537 40421537 G A rs147566832 FCGBP Nonsynonymous SNV P795L 0.013 0.005 0.014 7 15 2 0.018 4 0 0 0 0 15.76 86719 chr7 66274184 66274184 G A rs61758774 RABGEF1 Synonymous SNV P256P 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 5.717 86720 chr19 47844090 47844090 G T C5AR2 Nonsynonymous SNV D12Y 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 12.41 86721 chr19 40872764 40872764 G A rs142070038 PLD3 Nonsynonymous SNV G63S 0.005 0.01 0.01 5 6 4 0.013 3 0 0 0 0 16.36 86722 chr19 48219894 48219894 G A rs188300386 EHD2 Nonsynonymous SNV G9R 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 17.83 86723 chr19 51582895 51582895 G A rs112145183 KLK14 Nonsynonymous SNV R93C 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 31 86724 chr19 4844693 4844693 G A rs538020965 PLIN3 Nonsynonymous SNV P316L 0 0.008 0 1 0 3 0.003 0 0 0 0 0 4.019 86725 chr7 73462496 73462496 G A ELN Nonsynonymous SNV G201D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 86726 chr7 73653317 73653317 G A rs3135684 RFC2 Nonsynonymous SNV A129V 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Likely benign 23.9 86727 chr7 73803526 73803526 G A rs141986767 CLIP2 Nonsynonymous SNV R851Q 0.004 0 0 0 5 0 0 0 0 0 0 0 23 86728 chr15 55652803 55652803 G T rs768224773 CCPG1 Synonymous SNV R390R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.561 86729 chr19 39096357 39096357 G A rs764343376 MAP4K1 Nonsynonymous SNV S405F 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 86730 chr19 4159722 4159722 C T rs144868958 CREB3L3 Synonymous SNV S172S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 6.814 86731 chr7 76903907 76903907 C T rs148164233 CCDC146 Nonsynonymous SNV R460C 0.01 0.013 0.003 3 12 5 0.008 1 0 0 0 0 23.8 86732 chr19 17783274 17783274 C T rs779863348 UNC13A Synonymous SNV T61T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.89 86733 chr7 76903926 76903926 T C rs58545343 CCDC146 Nonsynonymous SNV I466T 0.015 0.018 0.014 3 18 7 0.008 4 0 0 0 0 0.735 86734 chr19 17835939 17835939 C T rs974722202 MAP1S Synonymous SNV L103L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.39 86735 chr15 57910241 57910241 T C rs147173331 GCOM1, MYZAP Nonsynonymous SNV L58P 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 0.051 86736 chr19 39898387 39898387 T C ZFP36 Nonsynonymous SNV L10P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 86737 chr8 97847326 97847326 C T rs370628358 CPQ Stop gain R187X 0.007 0.016 0 7 8 6 0.018 0 0 0 0 0 35 86738 chr19 48997152 48997163 CGCCGCGCCCGG - LMTK3 P1323_A1326del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 86739 chr15 58786999 58786999 C T rs35072731 LIPC-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 7.459 86740 chr18 45566448 45566448 C T rs61738460 ZBTB7C Nonsynonymous SNV G344E 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 23.5 86741 chr7 82451836 82451836 G A rs146099474 PCLO Synonymous SNV A4922A 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 Benign 18.16 86742 chr8 99101976 99101976 A C rs35368005 ERICH5 Nonsynonymous SNV Q244P 0.022 0.036 0.02 8 26 14 0.021 6 1 0 0 0 21 86743 chr15 59752252 59752252 C T rs115716954 FAM81A Synonymous SNV L47L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 86744 chr15 59813487 59813487 C T rs150526153 FAM81A Synonymous SNV L339L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 86745 chr19 40030615 40030615 G A rs200418605 EID2 Synonymous SNV A35A 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 4.513 86746 chr7 87160618 87160618 A T rs2032582 ABCB1 Nonsynonymous SNV S893T 0.02 0.029 0.01 4 23 11 0.01 3 0 0 0 0 Benign 23.2 86747 chr19 40520702 40520702 C T rs552529630 ZNF546 Nonsynonymous SNV R483C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 86748 chr19 408319 408319 A G rs1050777396 C2CD4C Nonsynonymous SNV S15P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.59 86749 chr15 63966947 63966947 T C rs199635033 HERC1 Synonymous SNV Q2480Q 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Likely benign 0.008 86750 chr8 104388187 104388187 G A rs146609679 CTHRC1 Synonymous SNV A110A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.51 86751 chr7 90042305 90042305 G T rs79632494 CLDN12 Synonymous SNV L105L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 6.926 86752 chr15 65369630 65369630 C T KBTBD13 Synonymous SNV A159A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.97 86753 chr19 49622210 49622210 C T rs2232001 C19orf73 Nonsynonymous SNV V24M 0.012 0.005 0.003 5 14 2 0.013 1 1 0 0 0 8.852 86754 chr19 52941373 52941373 C T rs141355877 ZNF534 Synonymous SNV G192G 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 12.82 86755 chr18 61558819 61558819 G C rs759788422 SERPINB2 Nonsynonymous SNV R47S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 86756 chr7 92731026 92731026 T C SAMD9 Nonsynonymous SNV N1462S 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 0.011 86757 chr15 66819662 66819662 A G ZWILCH Nonsynonymous SNV E171G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 86758 chr7 92763377 92763377 G A rs142642466 SAMD9L Synonymous SNV P636P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 5.362 86759 chr15 67984818 67984818 C T rs55966838 MAP2K5 Synonymous SNV D247D 0.012 0.008 0.007 5 14 3 0.013 2 0 0 0 0 Benign 0.569 86760 chr7 94039046 94039046 C T rs34511999 COL1A2 Synonymous SNV G316G 0.021 0.005 0.01 8 25 2 0.021 3 1 0 0 0 Benign/Likely benign 15.41 86761 chr19 53344599 53344599 T C ZNF468 Synonymous SNV R316R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.075 86762 chr19 44515492 44515492 T A rs6413542 ZNF230 Nonsynonymous SNV F434Y 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 0.005 86763 chr7 94293425 94293425 A G rs200638421 PEG10 Nonsynonymous SNV N186S 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 11.5 86764 chr8 121215974 121215974 C T rs61754508 COL14A1 Synonymous SNV L302L 0.014 0.008 0.003 5 17 3 0.013 1 0 0 0 0 Benign 13.63 86765 chr8 121301869 121301869 C G rs774098509 COL14A1 Nonsynonymous SNV T1367S 0.007 0 0 2 8 0 0.005 0 0 0 0 0 11.69 86766 chr7 95216346 95216346 T C rs17704480 PDK4 Synonymous SNV G357G 0.038 0.034 0.024 10 45 13 0.026 7 1 0 0 0 5.895 86767 chr19 50412244 50412252 GCGGTGGAT - rs750501947 NUP62 S272_A274del 0 0.003 0 0 0 1 0 0 0 0 0 0 86768 chr18 5890565 5890565 G C rs200146022 TMEM200C Nonsynonymous SNV L500V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.49 86769 chr7 97847314 97847314 C T rs377595090 TECPR1 Synonymous SNV P1066P 0.01 0.005 0 0 12 2 0 0 0 0 0 0 19.04 86770 chr15 71839803 71839803 G A rs117286812 THSD4 Nonsynonymous SNV A19T 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 16.52 86771 chr19 50549299 50549299 C T rs201590980 ZNF473 Synonymous SNV H521H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.87 86772 chr8 125052176 125052176 G A rs142217401 FER1L6 Nonsynonymous SNV A840T 0.005 0.005 0.017 4 6 2 0.01 5 0 0 0 0 34 86773 chr19 51022351 51022351 C T rs201394663 LRRC4B Nonsynonymous SNV V207I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 86774 chr18 74625769 74625769 C T rs184404327 ZNF236 Synonymous SNV T992T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.99 86775 chr7 99706104 99706104 A G rs565026490 TAF6 Synonymous SNV Y485Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.127 86776 chr19 51298079 51298079 C T rs141072588 ACP4 Synonymous SNV S341S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.94 86777 chr8 126443350 126443350 C T rs1001989436 TRIB1 Nonsynonymous SNV P69L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 86778 chr19 54721004 54721004 - GAG rs769945646 LILRB3 P619_P620insS 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 86779 chr19 54721007 54721009 TTC - rs749848536 LILRB3 E618del 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 86780 chr19 54848826 54848826 C T rs145556773 LILRA4 Nonsynonymous SNV R266H 0.004 0.005 0.014 1 5 2 0.003 4 0 0 0 0 0.788 86781 chr15 76634068 76634068 C G ISL2 Nonsynonymous SNV F324L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 86782 chr15 77426044 77426044 T C rs764595844 PEAK1 Nonsynonymous SNV K1127R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.6 86783 chr19 55098667 55098667 G C rs2241524 LILRA2 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 0.002 86784 chr19 55098672 55098672 C T rs776487709 LILRA2 Synonymous SNV S408S 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 7.9 86785 chr19 55098677 55098677 G C rs549778374 LILRA2 Nonsynonymous SNV G410A 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 0.001 86786 chr19 55098680 55098680 A C rs570066633 LILRA2 Nonsynonymous SNV Q411P 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 0.007 86787 chr19 55098686 55098686 C A rs757517756 LILRA2 Nonsynonymous SNV P413H 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 12.26 86788 chr19 55098695 55098695 A G rs200534443 LILRA2 Nonsynonymous SNV Y416C 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 22.7 86789 chr8 141572596 141572596 C G AGO2 Synonymous SNV T158T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 86790 chr19 4525004 4525004 G T PLIN5 Nonsynonymous SNV R269S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.007 86791 chr19 45394852 45394852 T C rs11556508 TOMM40 Synonymous SNV A60A 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 1.722 86792 chr8 142367289 142367289 C T rs147462792 GPR20 Synonymous SNV T245T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14.28 86793 chr8 142367940 142367940 G A rs145332046 GPR20 Synonymous SNV S28S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.859 86794 chr19 45910440 45910440 T C rs148542036 CD3EAP Synonymous SNV G39G 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 1.727 86795 chr15 83378366 83378366 G A rs200226421 AP3B2 Synonymous SNV I31I 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 16.87 86796 chr19 46002583 46002583 C A rs143040880 PPM1N Nonsynonymous SNV L285M 0.007 0.013 0.014 6 8 5 0.015 4 0 0 0 0 24.5 86797 chr18 77475398 77475398 G A rs765183908 CTDP1 Synonymous SNV P527P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.808 86798 chr19 5286072 5286072 C T rs61729776 PTPRS Nonsynonymous SNV C27Y 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 24.7 86799 chr19 55858033 55858033 G C rs201014085 KMT5C Synonymous SNV P291P 0.003 0.01 0 0 4 4 0 0 0 0 0 0 0.155 86800 chr19 55858478 55858478 C T rs79215683 KMT5C Synonymous SNV H350H 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 10.1 86801 chr19 55873726 55873726 G A rs4252572 FAM71E2 Nonsynonymous SNV R151C 0.013 0.016 0.007 2 15 6 0.005 2 0 0 0 0 28.9 86802 chr19 47127477 47127477 C T rs748955635 PTGIR Synonymous SNV A2A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 15.57 86803 chr18 9936132 9936132 T C rs29152 VAPA Synonymous SNV D86D 0.01 0.016 0.024 4 12 6 0.01 7 0 0 0 0 7.538 86804 chr19 55912970 55912970 C A rs766382400 UBE2S Nonsynonymous SNV G168V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.44 86805 chr19 45368908 45368908 A G rs769746436 NECTIN2 Nonsynonymous SNV R157G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.6 86806 chr15 86124563 86124563 G A rs563937314 AKAP13 Synonymous SNV T1088T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.23 86807 chr8 144681837 144681837 C G rs762063015 TIGD5 Synonymous SNV A588A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.604 86808 chr19 45567722 45567722 G T rs761623118 CLASRP Nonsynonymous SNV A353S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.997 86809 chr19 36113545 36113545 A G rs201888166 HAUS5 Nonsynonymous SNV E565G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.3 86810 chr19 53410359 53410359 T C ZNF888 Nonsynonymous SNV R406G 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 5.354 86811 chr8 144875242 144875242 C T rs11784217 SCRIB Synonymous SNV P1307P 0.01 0.021 0.014 6 12 8 0.015 4 0 0 0 0 15.21 86812 chr8 144904057 144904057 G A rs746659984 PUF60 Synonymous SNV N17N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 86813 chr19 11304562 11304562 - GCACTGCCACGCGTCGCA KANK2 V64_Q65insLRRVAV 0.001 0 0 0 1 0 0 0 0 0 0 0 86814 chr19 36244099 36244099 G A rs201290153 LIN37 Nonsynonymous SNV R116H 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 27 86815 chr19 11492490 11492490 A G rs764671462 EPOR Synonymous SNV L155L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.85 86816 chr19 48636337 48636337 T C LIG1 Nonsynonymous SNV M475V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 86817 chr19 36632060 36632060 T A rs11084845 CAPNS1 Synonymous SNV G49G 0.045 0.034 0.007 18 53 13 0.046 2 3 0 0 0 0.547 86818 chr19 56703361 56703361 T C rs557945620 ZSCAN5B Nonsynonymous SNV E149G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.06 86819 chr8 145112373 145112373 C T rs781901558 OPLAH Nonsynonymous SNV R467Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 86820 chr15 90892631 90892631 G T rs7162243 GABARAPL3 0 0 0.136 0 0 0 0 40 0 0 9 0 1.219 86821 chr19 47979822 47979822 G A rs762704121 KPTN Synonymous SNV A327A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 86822 chr19 1487180 1487180 C T rs778287335 PCSK4 Nonsynonymous SNV G272D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.3 86823 chr19 48198159 48198159 G A rs188295244 BICRA Synonymous SNV V966V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 12.54 86824 chr19 48201967 48201967 G A rs199973579 BICRA Nonsynonymous SNV D1109N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 32 86825 chr19 54976723 54976723 C A rs955694013 CDC42EP5 Synonymous SNV V3V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.42 86826 chr19 48205648 48205648 C A rs200264419 BICRA Synonymous SNV L1553L 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 16.03 86827 chr19 3752556 3752556 C T rs199521091 APBA3 Nonsynonymous SNV G449R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 32 86828 chr8 145726973 145726973 C T PPP1R16A Nonsynonymous SNV S425F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 86829 chr19 11461486 11461486 G T rs36097565 CCDC159 Nonsynonymous SNV V77L 0.01 0.013 0.014 8 12 5 0.021 4 1 1 0 0 12.97 86830 chr19 55543525 55543525 G C rs28969501 GP6 Nonsynonymous SNV L103V 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Likely benign 23.2 86831 chr19 55558829 55558829 T C rs200832287 RDH13 Nonsynonymous SNV H229R 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 24.4 86832 chr19 15756540 15756540 G A rs61734303 CYP4F3 Synonymous SNV S70S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.077 86833 chr19 11556233 11556233 G A rs200168017 PRKCSH Nonsynonymous SNV E210K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.2 86834 chr8 145773636 145773636 C T rs61732747 ARHGAP39 Synonymous SNV R278R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.304 86835 chr19 38876725 38876725 G A rs202082712 GGN Nonsynonymous SNV P393S 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Benign 17.16 86836 chr19 38877309 38877309 G A rs183879202 GGN Nonsynonymous SNV P198L 0.016 0.013 0 5 19 5 0.013 0 1 1 0 0 Benign 12.66 86837 chr7 100773787 100773787 G A rs6091 SERPINE1 Synonymous SNV A119A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 15.66 86838 chr19 50812395 50812395 C T rs774041150 MYH14 Nonsynonymous SNV S1933F 0 0.005 0 0 0 2 0 0 0 0 0 0 28.6 86839 chr19 55698955 55698955 C T rs36092369 PTPRH Nonsynonymous SNV G653D 0.018 0.013 0.014 10 21 5 0.026 4 1 0 0 1 6.611 86840 chr19 39228193 39228193 C A rs141065284 CAPN12 Nonsynonymous SNV G351W 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 21.3 86841 chr16 1115791 1115791 A G rs188762834 SSTR5-AS1 0 0 0.044 0 0 0 0 13 0 0 0 0 3.118 86842 chr16 1116010 1116010 - GT rs200248188 SSTR5-AS1 0 0 0.048 0 0 0 0 14 0 0 0 0 86843 chr19 50969458 50969458 A C rs769231342 MYBPC2 Nonsynonymous SNV Q1141P 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 86844 chr19 49436982 49436982 G C rs10401800 DHDH Nonsynonymous SNV A2P 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 22.5 86845 chr19 55858016 55858016 T C rs200788339 KMT5C Nonsynonymous SNV C286R 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 22.7 86846 chr19 49513137 49513137 C T rs185487314 RUVBL2 Synonymous SNV A155A 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 Benign 11.18 86847 chr19 16688458 16688458 G A rs145192786 MED26 Synonymous SNV R61R 0.015 0.01 0.003 3 18 4 0.008 1 0 0 0 0 8.427 86848 chr19 13218417 13218417 T C rs148858467 TRMT1 Synonymous SNV P489P 0.002 0.01 0.014 2 2 4 0.005 4 0 0 0 0 Benign 0.094 86849 chr9 5921844 5921844 G A rs117286418 KIAA2026 Synonymous SNV H1384H 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 0.744 86850 chr9 6015473 6015473 T G rs118125051 RANBP6 Synonymous SNV P45P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.37 86851 chr19 14161636 14161636 C T rs76543168 IL27RA Nonsynonymous SNV T490I 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 11.57 86852 chr16 14334358 14334358 G A rs199808028 MRTFB Nonsynonymous SNV A355T 0 0 0.007 0 0 0 0 2 0 0 0 0 5.101 86853 chr9 14720193 14720193 C T rs61759465 CER1 Synonymous SNV V233V 0.014 0.026 0.01 5 16 10 0.013 3 0 0 0 0 13.87 86854 chr19 1438865 1438865 C T rs7251165 RPS15 Synonymous SNV D21D 0.011 0.018 0 8 13 7 0.021 0 1 0 0 1 Benign 16.4 86855 chr19 50165259 50165259 C T rs375519678 IRF3 Nonsynonymous SNV E164K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 86856 chr19 41250585 41250585 G A rs73047039 C19orf54 Nonsynonymous SNV R2W 0.017 0.01 0.01 2 20 4 0.005 3 0 0 0 0 9.634 86857 chr19 6750440 6750440 G A rs148174421 TRIP10 Synonymous SNV E455E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.68 86858 chr19 41306555 41306555 G C rs73047080 EGLN2 Nonsynonymous SNV E26D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 10.64 86859 chr7 122114500 122114500 A C rs201536376 CADPS2 Nonsynonymous SNV F642V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 86860 chr9 17166843 17166843 A T rs57907512 CNTLN Nonsynonymous SNV Q159H 0.006 0.003 0.01 0 7 1 0 3 0 0 1 0 1.732 86861 chr16 16256935 16256935 G A rs72653706 ABCC6 Stop gain R1141X 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Pathogenic 42 86862 chr19 41895668 41895668 A G EXOSC5 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 86863 chr19 7117340 7117340 G A rs781656016 INSR Synonymous SNV D1280D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.6 86864 chr19 50919967 50919967 G A rs369613619 POLD1 Synonymous SNV V1044V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.958 86865 chr16 17202777 17202777 G A rs924260 XYLT1 Synonymous SNV P885P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.4 86866 chr9 18777740 18777740 A G rs4977426 ADAMTSL1 Synonymous SNV S1171S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.007 86867 chr16 17211545 17211545 C T rs7200466 XYLT1 Nonsynonymous SNV V839I 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 18.73 86868 chr19 41944170 41944170 C T rs118187504 DMAC2 Synonymous SNV R62R 0.012 0.013 0.02 3 14 5 0.008 6 0 0 0 0 11.24 86869 chr16 17211729 17211729 A G rs7201590 XYLT1 Synonymous SNV N777N 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 0.093 86870 chr7 127894592 127894592 G A rs17151919 LEP Nonsynonymous SNV V94M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 4.1 86871 chr19 51132746 51132746 G A rs61746970 SYT3 Synonymous SNV P362P 0.024 0.023 0.01 6 28 9 0.015 3 1 0 0 0 13.11 86872 chr7 128038654 128038654 G A rs72624957 IMPDH1 Synonymous SNV I186I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 14.06 86873 chr9 20414374 20414376 CTA - rs746029051 MLLT3 S187del 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 86874 chr19 56739630 56739630 G A ZSCAN5A Nonsynonymous SNV R50W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.84 86875 chr19 15228722 15228722 - A ILVBL Frameshift insertion I386Yfs*75 0.001 0.003 0 7 1 1 0.018 0 0 0 0 0 86876 chr19 52888074 52888074 - ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC ZNF880 Stop gain K415_R577delinsS 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 86877 chr19 15574925 15574925 C G rs201278861 RASAL3 Nonsynonymous SNV R82P 0.001 0.003 0 7 1 1 0.018 0 0 0 0 0 27.4 86878 chr19 57642413 57642413 C A rs35394887 USP29 Nonsynonymous SNV D790E 0.01 0.01 0.024 0 12 4 0 7 0 0 0 0 14.7 86879 chr19 44103311 44103311 C T rs774736653 ZNF576 Synonymous SNV A138A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.642 86880 chr9 34616102 34616102 A C rs142544785 DCTN3 Nonsynonymous SNV F93V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.81 86881 chr19 831759 831759 G T rs768636849 AZU1 Nonsynonymous SNV G213V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 86882 chr19 15918275 15918275 G A rs61746475 OR10H1 Synonymous SNV D191D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.048 86883 chr9 35661057 35661057 C G rs10441685 CCDC107 Nonsynonymous SNV S242C 0.023 0.029 0.051 9 27 11 0.023 15 0 0 0 0 23.1 86884 chr9 35661088 35661088 G A rs10441686 CCDC107 Synonymous SNV R252R 0.023 0.026 0.051 9 27 10 0.023 15 0 0 0 0 5.346 86885 chr16 22278053 22278053 C T rs36095301 EEF2K Synonymous SNV C540C 0.015 0.01 0.017 5 18 4 0.013 5 0 0 0 0 13.5 86886 chr19 53410225 53410225 T C ZNF888 Synonymous SNV Q450Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.089 86887 chr16 23481456 23481456 C A GGA2 Nonsynonymous SNV R494L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 86888 chr9 35906583 35906583 - CCACCACCACCA HRCT1 H105_P106insHHHH 0.025 0.031 0 16 29 12 0.041 0 4 2 0 3 86889 chr9 36037065 36037065 G T rs201017437 RECK Nonsynonymous SNV V24L 0.018 0.029 0.024 3 21 11 0.008 7 0 0 1 0 9.631 86890 chr19 19035089 19035089 C G rs747700700 DDX49 Nonsynonymous SNV T275S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 86891 chr19 19035094 19035094 G A rs747565108 DDX49 Nonsynonymous SNV A277T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 86892 chr7 139167928 139167928 G A rs141268710 KLRG2 Nonsynonymous SNV P154L 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 31 86893 chr16 24801377 24801379 AAT - TNRC6A N473del 0 0 0.007 0 0 0 0 2 0 0 0 0 86894 chr19 5212086 5212086 C T rs139009302 PTPRS Nonsynonymous SNV V1202M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 86895 chr19 17081707 17081707 G T rs9305083 CPAMD8 Nonsynonymous SNV P736H 0.019 0.023 0.02 5 22 9 0.013 6 0 0 0 0 0.786 86896 chr19 1918193 1918193 G A rs144595321 SCAMP4 Synonymous SNV G24G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.189 86897 chr7 139221027 139221027 C G CLEC2L Synonymous SNV T66T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.94 86898 chr19 19221665 19221665 C T SLC25A42 Synonymous SNV L313L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.99 86899 chr16 28995209 28995209 G A rs764766781 SPNS1 Nonsynonymous SNV G401S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 86900 chr19 52468470 52468470 C T rs61762979 ZNF350 Synonymous SNV A412A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.412 86901 chr19 52472322 52472322 G A rs4987242 ZNF350 Synonymous SNV G26G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.556 86902 chr19 21131783 21131783 G A rs184854107 ZNF85 Nonsynonymous SNV A91T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.035 86903 chr19 52538027 52538027 C T rs749312681 ZNF432 Nonsynonymous SNV R302H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 86904 chr19 45015212 45015212 G A rs192847663 CEACAM20 Nonsynonymous SNV T433M 0.007 0.003 0 0 8 1 0 0 1 0 0 0 0.831 86905 chr16 3063375 3063375 C T rs747724516 CLDN9 Synonymous SNV T4T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.885 86906 chr19 2210778 2210778 G A rs78679858 DOT1L Synonymous SNV K425K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.72 86907 chr16 30735777 30735777 A G rs774318394 SRCAP Nonsynonymous SNV T1678A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 86908 chr7 142750374 142750374 C T rs188874372 OR6V1 Stop gain Q313X 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 86909 chr19 55449447 55449447 G A rs104895524 NLRP7 Synonymous SNV H698H 0.013 0.005 0.01 7 15 2 0.018 3 0 0 0 0 Conflicting interpretations of pathogenicity 1.93 86910 chr7 143086010 143086010 C T rs73154206 ZYX Nonsynonymous SNV R458W 0.021 0.021 0.027 6 25 8 0.015 8 0 0 0 0 26.4 86911 chr19 6826630 6826630 G A rs117819421 VAV1 Nonsynonymous SNV V247I 0.008 0.008 0.017 7 9 3 0.018 5 0 0 0 0 Benign 0.003 86912 chr19 45130859 45130859 C T rs541499618 IGSF23 Synonymous SNV I178I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.431 86913 chr19 7505000 7505000 G A rs74728438 ARHGEF18 Synonymous SNV A4A 0.003 0.005 0.031 4 3 2 0.01 9 0 0 1 0 Benign 3.987 86914 chr19 7509223 7509223 G A rs17159584 ARHGEF18 Synonymous SNV L256L 0.003 0.005 0.031 4 4 2 0.01 9 0 0 1 0 Benign 6.397 86915 chr19 45183603 45183603 G T rs144807605 CEACAM19 Nonsynonymous SNV A235S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 86916 chr19 53302960 53302960 T C rs147053009 ZNF28 Nonsynonymous SNV H660R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 15.65 86917 chr19 45389419 45389419 G A rs376996543 NECTIN2 Synonymous SNV S430S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.47 86918 chr19 45648716 45648716 C T PPP1R37 Nonsynonymous SNV P468S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.606 86919 chr19 45649713 45649713 G C PPP1R37 Nonsynonymous SNV G687R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 86920 chr19 45682876 45682876 C G rs75792246 BLOC1S3 Nonsynonymous SNV L108V 0.02 0.016 0.014 9 23 6 0.023 4 0 0 0 0 Benign/Likely benign 23.9 86921 chr16 348223 348223 G A rs755028316 AXIN1 Nonsynonymous SNV S428L 0 0 0.007 0 0 0 0 2 0 0 0 0 11 86922 chr19 2997867 2997867 G A rs199703619 TLE2 Synonymous SNV T615T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.5 86923 chr19 53454387 53454387 G C rs57088011 ZNF816 Nonsynonymous SNV S214C 0.014 0.008 0.017 5 17 3 0.013 5 0 0 0 0 12.51 86924 chr19 30106275 30106275 G A rs16963103 POP4 Synonymous SNV T217T 0.028 0.029 0.041 11 33 11 0.028 12 0 0 0 0 11.16 86925 chr19 32845032 32845032 G A rs12327571 ZNF507 Synonymous SNV Q432Q 0.01 0.016 0.01 5 12 6 0.013 3 0 0 0 0 Benign 0.006 86926 chr19 8196119 8196119 C G rs199635753 FBN3 Nonsynonymous SNV D682H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 86927 chr9 100112803 100112803 C T rs117603641 CCDC180 Nonsynonymous SNV R1034C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 86928 chr16 47536914 47536914 T C rs17738933 PHKB Synonymous SNV D106D 0.005 0 0.017 4 6 0 0.01 5 0 0 0 0 Benign/Likely benign 2.16 86929 chr19 4684871 4684871 G A DPP9-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 4.187 86930 chr19 46915114 46915114 A C rs143086771 CCDC8 Nonsynonymous SNV N318K 0.009 0.005 0.01 7 11 2 0.018 3 0 0 0 0 Benign/Likely benign 9.847 86931 chr7 151038890 151038890 A T NUB1 Nonsynonymous SNV I10F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 86932 chr7 151097314 151097314 A G rs61741447 WDR86 Synonymous SNV Y59Y 0.022 0.021 0.01 5 26 8 0.013 3 1 1 0 0 0.091 86933 chr19 21992578 21992578 C G rs138529640 ZNF43 Nonsynonymous SNV W22C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.465 86934 chr19 8434123 8434123 G C rs77938377 ANGPTL4 Nonsynonymous SNV E190Q 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 4.56 86935 chr19 33792748 33792748 G A rs192240793 CEBPA Synonymous SNV H72H 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 Benign 1.758 86936 chr19 47259361 47259361 G A rs749320485 FKRP Synonymous SNV V218V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.033 86937 chr19 8551202 8551202 C T rs150750625 HNRNPM Synonymous SNV F495F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.76 86938 chr1 1007633 1007633 G A rs533904118 RNF223 Nonsynonymous SNV T105M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 25.3 86939 chr19 871231 871231 G A rs761520853 MED16 Synonymous SNV S707S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.408 86940 chr19 3548231 3548231 A G rs2240751 MFSD12 Nonsynonymous SNV Y173H 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 25.5 86941 chr19 56719964 56719964 G T rs554088494 ZSCAN5C Nonsynonymous SNV G296C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.633 86942 chr19 56719968 56719968 T C rs577184275 ZSCAN5C Nonsynonymous SNV L297P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.002 86943 chr1 1019367 1019367 C T rs771596249 C1orf159 Nonsynonymous SNV G290S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.225 86944 chr19 548956 548956 G A rs777205696 GZMM Nonsynonymous SNV R89Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.87 86945 chr1 103548489 103548489 T C rs145159429 COL11A1 Nonsynonymous SNV N49S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 1.206 86946 chr19 36230423 36230423 C A rs147295574 IGFLR1 Nonsynonymous SNV G88C 0.009 0.013 0 2 11 5 0.005 0 0 0 0 0 24.6 86947 chr19 49102514 49102514 G C SULT2B1 Nonsynonymous SNV G302R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.144 86948 chr16 56906338 56906338 G A rs146834675 SLC12A3 Nonsynonymous SNV E310K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.32 86949 chr19 36350498 36350498 C G KIRREL2 Nonsynonymous SNV T163R 0.004 0 0 0 5 0 0 0 0 0 0 0 0.021 86950 chr19 37238966 37238966 G A rs761438060 ZNF850 Synonymous SNV C960C 0.005 0 0 0 6 0 0 0 0 0 0 0 6.954 86951 chr19 55824298 55824298 G A rs201710040 TMEM150B Synonymous SNV L211L 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 6.453 86952 chr16 58074529 58074529 G A rs61753767 MMP15 Synonymous SNV P279P 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 11.12 86953 chr8 6793553 6793553 G A rs559546450 DEFA4 Nonsynonymous SNV R95C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 19.89 86954 chr19 38055578 38055578 T C rs142122989 ZNF571 Synonymous SNV K584K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.047 86955 chr9 116091203 116091203 A C rs35305327 WDR31 Nonsynonymous SNV N94K 0.008 0 0.01 0 9 0 0 3 0 0 0 0 3.385 86956 chr1 11103408 11103408 G A rs7536030 MASP2 Synonymous SNV Y243Y 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 Benign 1.313 86957 chr1 111060013 111060013 C T rs148102817 KCNA10 Nonsynonymous SNV R466Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 86958 chr16 6367047 6367047 A G RBFOX1 Nonsynonymous SNV T19A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 86959 chr9 117068919 117068919 C T rs41278651 COL27A1 Synonymous SNV P1686P 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 Benign 18.87 86960 chr16 67912101 67912101 G A rs200449852 EDC4 Synonymous SNV G309G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.976 86961 chr19 35739852 35739852 G A rs146546592 LSR Stop gain W24X 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 86962 chr19 38380096 38380096 A G rs534192023 WDR87 Synonymous SNV I1405I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.054 86963 chr8 10467589 10467589 - CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC RP1L1 E1339_E1340insGTKTEEGLQEEGVQLE 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 86964 chr9 117553057 117553057 G A rs368084272 TNFSF15 Nonsynonymous SNV S85L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.8 86965 chr19 36015762 36015762 C A SBSN Nonsynonymous SNV G568V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.8 86966 chr19 619016 619016 C T POLRMT Nonsynonymous SNV R1083H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 13.52 86967 chr19 632849 632849 C T rs139758373 POLRMT Nonsynonymous SNV V60M 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign 27.6 86968 chr19 36218349 36218349 C T rs147091696 KMT2B Synonymous SNV Y1376Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 86969 chr19 38974038 38974038 C T rs774316371 RYR1 Nonsynonymous SNV R1606C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 86970 chr19 9077409 9077409 A G rs769726085 MUC16 Nonsynonymous SNV M3346T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 86971 chr19 39299555 39299555 C A rs754742487 LGALS4 Synonymous SNV P56P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 86972 chr1 11595572 11595572 C T rs3891105 DISP3 Synonymous SNV S1229S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 15.28 86973 chr16 75146586 75146586 G A rs200675067 LDHD Synonymous SNV D424D 0 0 0.007 0 0 0 0 2 0 0 0 0 1.54 86974 chr16 75147955 75147955 T C rs138539047 LDHD Synonymous SNV T269T 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 0.027 86975 chr19 5705801 5705801 T C rs781452903 LONP1 Nonsynonymous SNV N254S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.866 86976 chr19 39962334 39962334 C T SUPT5H Synonymous SNV C634C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 86977 chr19 3747947 3747947 G C rs551071457 TJP3 Nonsynonymous SNV E826D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.67 86978 chr19 7585762 7585762 G C rs116797831 ZNF358 Nonsynonymous SNV S545T 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 22.1 86979 chr19 7734283 7734283 T C rs767167081 RETN Nonsynonymous SNV M24T 0.001 0.008 0 4 1 3 0.01 0 0 0 0 0 11.94 86980 chr19 40357449 40357449 C T rs761263526 FCGBP Synonymous SNV T5288T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.8 86981 chr19 38055957 38055957 C T rs61731963 ZNF571 Nonsynonymous SNV R458H 0.008 0.01 0.003 6 9 4 0.015 1 0 0 0 0 22.9 86982 chr19 7831633 7831633 C T rs558337989 CLEC4M Synonymous SNV S156S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 86983 chr1 100964903 100964903 A G CDC14A Nonsynonymous SNV K321E 0 0.005 0 0 0 2 0 0 0 0 0 0 10.61 86984 chr1 108299925 108299925 C T rs17541972 VAV3 Synonymous SNV P348P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 10.77 86985 chr1 109238715 109238715 A G rs771878804 PRPF38B Synonymous SNV L132L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.75 86986 chr19 8206866 8206866 G C rs150892478 FBN3 Nonsynonymous SNV R233G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 86987 chr19 39009954 39009954 G A rs140689610 RYR1 Synonymous SNV V3373V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.313 86988 chr9 128305390 128305390 C T rs11542134 MAPKAP1 Synonymous SNV K110K 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 9.677 86989 chr16 83933181 83933181 C T rs944533152 MLYCD Synonymous SNV I144I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.14 86990 chr19 8551085 8551096 CATGGGCCCTGC - rs531807844 HNRNPM M461_A464del 0 0.003 0 0 0 1 0 0 0 0 0 0 86991 chr19 3977553 3977553 G A EEF2 Nonsynonymous SNV T708I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 86992 chr19 58640284 58640284 T C rs34681367 ZNF329 Nonsynonymous SNV N196S 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 0.025 86993 chr19 42187746 42187746 G A rs369677539 CEACAM7 Nonsynonymous SNV R226C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 86994 chr1 12408937 12408937 C T rs756456478 VPS13D Nonsynonymous SNV R3018W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 86995 chr8 23167300 23167300 G A rs11554932 LOXL2 Synonymous SNV T587T 0.029 0.036 0.034 16 34 14 0.041 10 0 0 1 1 8.195 86996 chr1 110737326 110737326 C T rs200290904 SLC6A17 Synonymous SNV I475I 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 17.71 86997 chr19 8971692 8971692 C T rs145933765 MUC16 Synonymous SNV V14300V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.474 86998 chr19 42861016 42861016 C T rs149279834 MEGF8 Synonymous SNV A1504A 0.013 0.021 0.024 6 15 8 0.015 7 0 0 0 0 Benign 11.66 86999 chr16 84495318 84495318 A C rs4782970 ATP2C2-AS1, ATP2C2 0.005 0.01 0.017 2 6 4 0.005 5 0 0 0 0 Benign 24 87000 chr19 5995642 5995642 C T rs561826046 RFX2 Nonsynonymous SNV A651T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 19.21 87001 chr9 131830567 131830567 G A rs28365557 MIGA2 Nonsynonymous SNV A454T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 87002 chr16 86371509 86371509 T G rs2696845 LINC00917 0 0 0.095 0 0 0 0 28 0 0 14 0 1.538 87003 chr16 86544943 86544943 C G FOXF1 Synonymous SNV V256V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.92 87004 chr1 146656179 146656179 G A rs142231929 FMO5 Synonymous SNV P429P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.95 87005 chr1 146714427 146714427 G C rs11588753 CHD1L Nonsynonymous SNV R25P 0.042 0.047 0.054 13 49 18 0.033 16 6 0 0 1 22.8 87006 chr1 146747797 146747797 G A rs200226258 CHD1L Nonsynonymous SNV R268Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.9 87007 chr19 54080140 54080140 A T rs112855712 ZNF331 Nonsynonymous SNV K109I 0.01 0.003 0.017 2 12 1 0.005 5 0 0 0 0 Benign 11.32 87008 chr16 88496595 88496595 C T rs77951481 ZNF469 Nonsynonymous SNV P906L 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.5 87009 chr9 133927934 133927934 C T rs199764333 LAMC3 Nonsynonymous SNV R563W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.57 87010 chr16 88580843 88580843 G A rs774300924 ZFPM1 Nonsynonymous SNV R106Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 87011 chr1 151867657 151867657 G C rs144257719 THEM4 Nonsynonymous SNV S38C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23 87012 chr8 41790866 41790866 G C rs2980901 KAT6A Synonymous SNV V1624V 0.011 0.01 0.02 3 13 4 0.008 6 0 0 0 0 Benign 0.002 87013 chr19 44933419 44933419 C G rs150518845 ZNF229 Nonsynonymous SNV G507R 0.007 0.018 0.01 1 8 7 0.003 3 0 0 0 0 24.8 87014 chr19 44981185 44981185 T C rs202025354 ZNF180 Nonsynonymous SNV S480G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.05 87015 chr19 44981555 44981555 A G rs367716460 ZNF180 Synonymous SNV Y356Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.119 87016 chr19 44982283 44982283 T A rs199779777 ZNF180 Nonsynonymous SNV I114L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.019 87017 chr19 8665906 8665906 C T rs144166844 ADAMTS10 Nonsynonymous SNV R239H 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 Uncertain significance 25.5 87018 chr1 153635183 153635183 C T ILF2 Nonsynonymous SNV S299N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.6 87019 chr16 89043105 89043105 G A rs527797742 CBFA2T3 Synonymous SNV A37A 0 0 0.007 0 0 0 0 2 0 0 0 0 6.567 87020 chr16 89043142 89043142 G A rs146387733 CBFA2T3 Nonsynonymous SNV T25M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 87021 chr19 55703094 55703094 G T rs61734204 PTPRH Nonsynonymous SNV A580D 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 23.8 87022 chr19 55740069 55740069 C A rs149958597 TMEM86B Nonsynonymous SNV C14F 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.048 87023 chr16 89235184 89235184 T G rs12598446 LINC02138 0 0 0.075 0 0 0 0 22 0 0 1 0 3.923 87024 chr1 120050210 120050210 G C rs144261994 HSD3B1 Nonsynonymous SNV K37N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.67 87025 chr8 61654233 61654233 A G rs764798609 CHD7 Nonsynonymous SNV H81R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 87026 chr19 44536615 44536615 G A rs8112679 ZNF222 Nonsynonymous SNV G303D 0.009 0.01 0.024 5 11 4 0.013 7 0 0 0 0 21.5 87027 chr8 66992737 66992737 G A rs7006209 DNAJC5B Synonymous SNV V153V 0.032 0.029 0.027 4 38 11 0.01 8 1 0 0 0 10.36 87028 chr8 67062583 67062583 G A rs61738600 TRIM55 Synonymous SNV S289S 0.032 0.029 0.027 4 38 11 0.01 8 1 0 0 0 11.68 87029 chr19 44571252 44571252 - A rs562593501 ZNF223 Frameshift insertion P427Tfs*5 0.006 0.018 0 3 7 7 0.008 0 0 0 0 0 87030 chr1 100740485 100740485 T C rs116538743 RTCA Synonymous SNV Y193Y 0.003 0.016 0.01 3 3 6 0.008 3 0 0 0 0 Benign 4.36 87031 chr16 89833576 89833576 G C rs17233141 FANCA Nonsynonymous SNV S858R 0.009 0.008 0.017 2 10 3 0.005 5 0 0 0 0 Benign/Likely benign 2.888 87032 chr1 10529326 10529326 A G rs138842024 DFFA Nonsynonymous SNV I69T 0.011 0.016 0.017 6 13 6 0.015 5 0 0 0 0 27.6 87033 chr19 56188968 56188968 A C rs77635294 EPN1 Nonsynonymous SNV S34R 0.006 0 0 0 7 0 0 0 0 0 0 0 10.49 87034 chr8 74153722 74153722 T G rs754393957 C8orf89 Nonsynonymous SNV K152N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 87035 chr19 56249649 56249649 T G rs148319418 NLRP9 Nonsynonymous SNV K31T 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 14.36 87036 chr16 9012915 9012915 C T rs777266614 USP7 Synonymous SNV T215T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.09 87037 chr1 145527693 145527693 G A rs146922585 ITGA10 Nonsynonymous SNV V45I 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 26.1 87038 chr19 9008194 9008194 G A rs186813025 MUC16 Nonsynonymous SNV R13120W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.5 87039 chr9 139371393 139371393 C T rs780002774 SEC16A Synonymous SNV S225S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.71 87040 chr8 82598052 82598052 G C IMPA1 Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.219 87041 chr8 87076250 87076250 T G rs34037815 PSKH2 Nonsynonymous SNV S266R 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 26.4 87042 chr19 46177340 46177340 G T rs146908284 GIPR Nonsynonymous SNV R95S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 87043 chr19 4511572 4511572 G A rs770220323 PLIN4 Synonymous SNV C800C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.506 87044 chr19 46180357 46180357 C G rs5392 GIPR Nonsynonymous SNV L226V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 87045 chr19 4511593 4511593 A T rs112673009 PLIN4 Synonymous SNV T793T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 87046 chr19 4511598 4511598 A G rs76022477 PLIN4 Synonymous SNV L792L 0.005 0.008 0.017 1 6 3 0.003 5 0 0 0 0 0.085 87047 chr19 4511599 4511599 C G rs78467378 PLIN4 Synonymous SNV V791V 0.004 0.003 0.017 1 5 1 0.003 5 0 0 0 0 0.658 87048 chr8 87560604 87560604 G A rs143958572 CPNE3 Nonsynonymous SNV V319I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 87049 chr1 11008685 11008685 T C rs75518308 C1orf127 Nonsynonymous SNV T364A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.002 87050 chr1 11008722 11008722 G A rs112710664 C1orf127 Synonymous SNV V351V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 1.596 87051 chr1 11008778 11008778 T A rs115282418 C1orf127 Nonsynonymous SNV I333F 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.518 87052 chr1 11008799 11008799 G C rs74772255 C1orf127 Nonsynonymous SNV P326A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.001 87053 chr19 9070277 9070277 C A rs144870176 MUC16 Synonymous SNV V5723V 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign 3.273 87054 chr19 9070430 9070430 T G rs75529002 MUC16 Synonymous SNV T5672T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign 0.017 87055 chr19 46832580 46832580 C A rs150047396 HIF3A Synonymous SNV V450V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 87056 chr19 46832596 46832596 C T rs148799051 HIF3A Nonsynonymous SNV R456W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 87057 chr1 157566136 157566136 G A rs75108086 FCRL4 Nonsynonymous SNV P12S 0.015 0.021 0.034 9 18 8 0.023 10 0 0 0 0 14.2 87058 chr8 104337415 104337415 C T FZD6 Nonsynonymous SNV L56F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 87059 chr17 1679962 1679962 T C rs753289929 SERPINF1 Nonsynonymous SNV V121A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.425 87060 chr1 152329942 152329942 C T rs2282304 FLG2 Nonsynonymous SNV R107Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.09 87061 chr1 152488146 152488146 G A rs16834168 CRCT1 Nonsynonymous SNV C96Y 0.008 0.008 0.007 4 9 3 0.01 2 1 0 0 1 15.11 87062 chr19 57802260 57802260 A T rs140966783 ZNF460 Nonsynonymous SNV K76N 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 0.002 87063 chr17 17494884 17494884 A G rs144560685 PEMT Synonymous SNV P19P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 8.367 87064 chr19 46916008 46916008 A G rs149839442 CCDC8 Synonymous SNV A20A 0.007 0.013 0.01 4 8 5 0.01 3 0 0 0 0 Benign 9.367 87065 chr17 17772659 17772659 G A rs145438922 TOM1L2 Synonymous SNV Y154Y 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 4.892 87066 chr19 47570206 47570206 C T rs200501790 ZC3H4 Nonsynonymous SNV A1107T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.158 87067 chr19 48179125 48179125 C T rs187227564 BICRA Synonymous SNV L34L 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 16.07 87068 chr1 11584025 11584025 C T rs893187936 DISP3 Synonymous SNV L797L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.34 87069 chr19 48183573 48183573 C T rs367911716 BICRA Synonymous SNV G382G 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 5.946 87070 chr19 58597567 58597567 C G ZSCAN18 Nonsynonymous SNV R136T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.057 87071 chr1 11708856 11708856 C T rs141266599 FBXO2 Synonymous SNV P262P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.3 87072 chr8 123964392 123964392 G C ZHX2 Synonymous SNV G214G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 87073 chr8 123965794 123965794 T C rs73335725 ZHX2 Synonymous SNV L682L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.464 87074 chr17 19460972 19460972 G A rs1054715 SNORA59A, SNORA59B 0 0 0.051 0 0 0 0 15 0 0 0 0 3.592 87075 chr8 124138861 124138861 T G rs80263529 TBC1D31 Synonymous SNV T106T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 87076 chr1 158747123 158747123 G A rs149431183 OR6N2 Synonymous SNV T101T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.15 87077 chr1 158747320 158747320 G A rs138356091 OR6N2 Synonymous SNV L36L 0.001 0.008 0.02 0 1 3 0 6 0 0 0 0 1.154 87078 chr17 19684401 19684401 C T rs144113406 ULK2 Nonsynonymous SNV V886M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25 87079 chr1 117559893 117559893 G T rs148555610 CD101 Nonsynonymous SNV Q470H 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 11.65 87080 chr17 20885395 20885395 A G rs1542552 LOC339260 0 0 0.078 0 0 0 0 23 0 0 6 0 1.783 87081 chr8 124663977 124663977 A T rs763394291 KLHL38 Nonsynonymous SNV L397H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 87082 chr8 124664368 124664368 C T rs61741356 KLHL38 Nonsynonymous SNV V267I 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 0.008 87083 chr19 49002733 49002733 G A LMTK3 Synonymous SNV S560S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.441 87084 chr19 501762 501762 - GGAGCCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCC MADCAM1 S261_P262insQEPPDTTSPEPPDTTS 0.005 0.003 0.003 4 6 1 0.01 1 1 0 0 0 87085 chr19 50370443 50370443 G C PNKP Nonsynonymous SNV P7A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.06 87086 chr1 12253062 12253062 G A rs5746026 TNFRSF1B Nonsynonymous SNV E232K 0.009 0.008 0.01 8 10 3 0.021 3 0 0 0 0 5.68 87087 chr17 2227571 2227571 A T rs139064559 TSR1 Synonymous SNV T778T 0.003 0 0.01 0 3 0 0 3 0 0 0 0 0.103 87088 chr17 2227572 2227572 G A rs141644586 TSR1 Nonsynonymous SNV T778I 0.003 0 0.01 0 3 0 0 3 0 0 0 0 27.9 87089 chr19 50393011 50393011 G A IL4I1 Synonymous SNV D540D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 2.389 87090 chr1 1249202 1249202 C T rs1003024903 INTS11 Synonymous SNV K191K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.73 87091 chr10 13655827 13655827 C T rs759609274 PRPF18 Synonymous SNV T222T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.04 87092 chr1 15687142 15687142 A T rs368483770 FHAD1 Nonsynonymous SNV T947S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.104 87093 chr17 2323465 2323465 G A rs760408472 METTL16 Synonymous SNV F496F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.274 87094 chr17 25758419 25758419 A C rs4795662 TBC1D3P5 0 0 0.068 0 0 0 0 20 0 0 9 0 0.664 87095 chr1 16260556 16260556 G A rs779088073 SPEN Synonymous SNV K2607K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.19 87096 chr19 50781445 50781445 C T rs369976154 MYH14 Nonsynonymous SNV R1270W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 34 87097 chr8 142202873 142202873 G A rs768073187 DENND3 Synonymous SNV S1249S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.149 87098 chr1 16459787 16459787 C A rs56043737 EPHA2 Synonymous SNV T593T 0.016 0.016 0.037 5 19 6 0.013 11 0 1 0 0 Benign/Likely benign 16.54 87099 chr1 113121031 113121031 G A ST7L Nonsynonymous SNV L177F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 87100 chr19 50931423 50931423 C T SPIB Nonsynonymous SNV L116F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.9 87101 chr17 27400925 27400927 AGC - rs752146566 TIAF1 L98del 0 0 0.003 0 0 0 0 1 0 0 0 0 87102 chr19 7965210 7965210 G A rs61731431 LRRC8E Synonymous SNV V472V 0.014 0.01 0.007 4 16 4 0.01 2 0 0 0 0 0.008 87103 chr1 145578120 145578120 G A rs782404985 PIAS3 Nonsynonymous SNV R28Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 87104 chr17 29119286 29119286 G A rs55961983 SUZ12P1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.996 87105 chr1 166829522 166829522 C T rs2272792 TADA1 Nonsynonymous SNV R198Q 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 31 87106 chr8 144407675 144407675 T C rs79138102 TOP1MT Nonsynonymous SNV Q73R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 11.58 87107 chr8 144522278 144522278 C G rs147697502 ZC3H3 Nonsynonymous SNV Q916H 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.54 87108 chr19 51378085 51378085 G A rs139063242 KLK2 Nonsynonymous SNV G52D 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 26 87109 chr8 144620584 144620584 G A rs80351785 ZC3H3 Nonsynonymous SNV S318L 0.009 0.003 0.01 6 10 1 0.015 3 0 0 0 0 14.89 87110 chr1 150116973 150116973 G A rs782075318 VPS45 Nonsynonymous SNV M497I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.06 87111 chr17 30469471 30469494 CCGCCGCCGCCGCCGCCGCCGCCG - rs751404391 LOC105371730 0 0 0.007 0 0 0 0 2 0 0 0 0 87112 chr17 30669039 30669039 A C C17orf75 Synonymous SNV L40L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.81 87113 chr1 117556307 117556307 C T rs141390223 CD101 Nonsynonymous SNV A374V 0.013 0.008 0.031 6 15 3 0.015 9 0 0 1 0 0.485 87114 chr1 158596684 158596684 G A rs146520285 SPTA1 Synonymous SNV D1926D 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.286 87115 chr17 31107684 31107684 A G MYO1D Nonsynonymous SNV Y72H 0 0 0.003 0 0 0 0 1 0 0 0 0 28 87116 chr19 8616995 8616995 C T rs184748543 MYO1F Synonymous SNV K186K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 15.27 87117 chr1 117568358 117568358 C T rs145563609 CD101 Nonsynonymous SNV R886C 0.009 0.01 0 0 10 4 0 0 0 0 0 0 29.6 87118 chr1 158627266 158627266 C A SPTA1 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 87119 chr1 150939661 150939661 G A CERS2 Synonymous SNV I210I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 87120 chr1 11771929 11771929 G A rs78987150 DRAXIN Nonsynonymous SNV G222R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 34 87121 chr10 26462922 26462922 G A rs146832858 MYO3A Synonymous SNV R1243R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.832 87122 chr1 151315474 151315474 A G rs199761884 RFX5 Nonsynonymous SNV S347P 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Uncertain significance 24.7 87123 chr1 171509900 171509900 C G rs762929297 PRRC2C Nonsynonymous SNV Q1097E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 87124 chr1 151638469 151638469 G A rs61762678 SNX27 Nonsynonymous SNV V323M 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Likely benign 22.9 87125 chr17 34235375 34235375 T C rs9908011 LRRC37A8P 0 0 0.061 0 0 0 0 18 0 0 1 0 0.026 87126 chr17 34235997 34235997 T C rs11657908 LRRC37A8P 0 0 0.031 0 0 0 0 9 0 0 2 0 1.421 87127 chr8 144941166 144941166 T A EPPK1 Nonsynonymous SNV N2086Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 87128 chr1 17296882 17296882 G A rs41303881 CROCC Synonymous SNV R1862R 0.072 0.063 0.054 23 85 24 0.059 16 3 1 0 1 12.76 87129 chr1 159828613 159828613 C T rs62624468 VSIG8 Nonsynonymous SNV V47I 0.018 0.034 0.02 8 21 13 0.021 6 0 0 0 1 13.19 87130 chr1 159901250 159901250 G A rs145015387 IGSF9 Synonymous SNV Y502Y 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 0.227 87131 chr1 11894592 11894592 G A rs150830522 CLCN6 Nonsynonymous SNV V558M 0.003 0.005 0.017 2 4 2 0.005 5 0 0 0 0 Likely benign 25.9 87132 chr8 144991087 144991087 T C rs868927783 PLEC Nonsynonymous SNV N4287S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.085 87133 chr1 160063120 160063120 G A IGSF8 Synonymous SNV S302S 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 12.38 87134 chr17 34862346 34862346 T C MYO19 Synonymous SNV E582E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.774 87135 chr17 34866718 34866718 C T rs200728833 MYO19 Nonsynonymous SNV E342K 0 0 0.003 5 0 0 0.013 1 0 0 0 0 7.928 87136 chr8 144997163 144997163 G A PLEC Nonsynonymous SNV L2298F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 87137 chr19 9020059 9020059 T C rs201453310 MUC16 Nonsynonymous SNV E12479G 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 18.48 87138 chr17 3518742 3518742 C T rs140777774 SHPK Nonsynonymous SNV A305T 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 15.18 87139 chr1 175130119 175130119 T C rs116333252 KIAA0040 Nonsynonymous SNV I11V 0.008 0.005 0.017 0 9 2 0 5 0 0 0 0 0.032 87140 chr1 160801162 160801162 A T CD244 Nonsynonymous SNV L266Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24 87141 chr1 160811669 160811669 A G rs143887406 CD244 Synonymous SNV H28H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 87142 chr1 153122528 153122528 G A rs115792981 SPRR2G Nonsynonymous SNV T20M 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.02 87143 chr10 33496576 33496576 G C rs2228637 NRP1 Nonsynonymous SNV F561L 0.012 0.008 0.003 5 14 3 0.013 1 0 0 0 0 23.3 87144 chr8 145625417 145625417 G A rs782299141 CPSF1 Synonymous SNV Y332Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.823 87145 chr8 145638306 145638306 G A SLC39A4 Nonsynonymous SNV A53V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 87146 chr17 36491476 36491476 G A rs113220369 GPR179 Synonymous SNV Y468Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.362 87147 chr1 17660456 17660456 G A PADI4 Nonsynonymous SNV G98R 0.003 0.01 0 0 4 4 0 0 0 0 0 0 11.13 87148 chr10 34620148 34620148 C T rs755162348 PARD3 Synonymous SNV P838P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.78 87149 chr17 36623095 36623095 G T rs143539189 ARHGAP23 Nonsynonymous SNV A391S 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 0.039 87150 chr19 9068458 9068458 A T rs150142305 MUC16 Nonsynonymous SNV S6330T 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 0.108 87151 chr17 36875827 36875827 T C rs62620198 MLLT6 Nonsynonymous SNV L667P 0.003 0.005 0.017 1 3 2 0.003 5 0 0 0 0 24.8 87152 chr19 9070873 9070873 A G rs79202331 MUC16 Nonsynonymous SNV S5525P 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 Benign 0.916 87153 chr1 154543671 154543671 C T rs151054217 CHRNB2 Synonymous SNV D124D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.06 87154 chr8 145755899 145755899 C T rs138186373 ARHGAP39 Synonymous SNV P1053P 0.011 0 0.007 8 13 0 0.021 2 0 0 0 0 14.9 87155 chr19 9083433 9083433 A G rs139334032 MUC16 Synonymous SNV G2794G 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 0.015 87156 chr1 155005584 155005584 T C rs149783012 DCST2 Nonsynonymous SNV K142R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.158 87157 chr1 179544941 179544941 G A rs74315344 NPHS2 Nonsynonymous SNV P20L 0.011 0.003 0.007 1 13 1 0.003 2 0 0 0 0 Benign/Likely benign 19.45 87158 chr1 1550886 1550886 C T rs773884992 MIB2 Nonsynonymous SNV S16L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.921 87159 chr17 38910676 38910676 G A rs146092638 KRT25 Synonymous SNV I158I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 87160 chr1 155932940 155932940 T C rs151002254 ARHGEF2 Synonymous SNV T253T 0.005 0.008 0.007 0 6 3 0 2 1 0 0 0 Likely benign 0.303 87161 chr1 182026596 182026596 C T rs146081397 ZNF648 Nonsynonymous SNV A184T 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 16.33 87162 chr1 156517905 156517905 T C rs550116730 IQGAP3 Nonsynonymous SNV H755R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.111 87163 chr1 182555761 182555761 T G RNASEL Nonsynonymous SNV T61P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 87164 chr1 168013876 168013876 G A rs113151068 DCAF6 Nonsynonymous SNV A409T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.198 87165 chr10 50040722 50040722 C T rs12761517 WDFY4 Nonsynonymous SNV R2211W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 87166 chr1 151810431 151810431 G A rs377436117 C2CD4D Synonymous SNV S345S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 87167 chr10 50373316 50373316 G A rs114164084 TMEM273 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.84 87168 chr19 54307212 54307212 G C rs150671525 NLRP12 Nonsynonymous SNV T861S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.87 87169 chr1 1854855 1854855 G A rs142831649 CFAP74 Synonymous SNV P1491P 0.005 0.016 0 2 6 6 0.005 0 0 0 0 0 9.131 87170 chr10 50667021 50667021 G A rs4253230 ERCC6 Nonsynonymous SNV T1441I 0.004 0 0.01 0 5 0 0 3 0 0 1 0 Benign 15.21 87171 chr19 54515294 54515294 C T rs201389291 CACNG6 Nonsynonymous SNV R141C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24.3 87172 chr1 156907063 156907063 G A ARHGEF11 Nonsynonymous SNV T1433I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 87173 chr1 152487932 152487943 CCCGCCCCGGCG - rs749415432 CRCT1 A26_P29del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 87174 chr17 39421886 39421886 A G rs12938692 KRTAP9-6 Nonsynonymous SNV Y86C 0.003 0.01 0.014 2 3 4 0.005 4 0 0 0 0 0.318 87175 chr1 158436045 158436045 G A rs766692849 OR10K1 Nonsynonymous SNV V232I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.18 87176 chr9 20976432 20976432 G C FOCAD Synonymous SNV V1382V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.018 87177 chr1 173606115 173606115 G C TEX50 Nonsynonymous SNV K158N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 6.216 87178 chr19 54946748 54946748 G A rs149942161 TTYH1 Synonymous SNV L384L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.56 87179 chr10 62038544 62038544 A G rs1031688 ANK3 Synonymous SNV N117N 0.02 0.023 0.041 14 24 9 0.036 12 0 0 0 2 Likely benign 8.547 87180 chr1 153750689 153750689 G A rs142650546 SLC27A3 Nonsynonymous SNV R405H 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 34 87181 chr1 153751866 153751866 C G rs372347674 SLC27A3 Nonsynonymous SNV H598D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.93 87182 chr10 63445872 63445872 G A rs191732208 CABCOCO1 Synonymous SNV S48S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.041 87183 chr1 174219652 174219652 C T rs754078380 RABGAP1L Nonsynonymous SNV R216C 0 0.005 0 0 0 2 0 0 0 0 0 0 35 87184 chr9 27950265 27950265 G A rs111772526 LINGO2 Synonymous SNV D135D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 1.212 87185 chr9 32492444 32492444 T - rs550088215 DDX58 K172Nfs*17 0.002 0.003 0 0 2 1 0 0 0 0 0 0 87186 chr1 159828572 159828572 G A rs139423041 VSIG8 Synonymous SNV I60I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.28 87187 chr1 197021942 197021942 A G F13B Synonymous SNV D459D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.306 87188 chr1 15541640 15541640 G A rs41310380 TMEM51 Synonymous SNV L19L 0.003 0.008 0.003 5 3 3 0.013 1 0 0 0 0 Benign 9.712 87189 chr9 35616084 35616084 C T rs372589518 CD72 Nonsynonymous SNV E182K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.992 87190 chr1 178491513 178491513 A G rs142754659 TEX35 Nonsynonymous SNV T214A 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 11.26 87191 chr1 197112670 197112670 G A rs148338547 ASPM Nonsynonymous SNV P238S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.422 87192 chr1 179041171 179041171 C T rs146459916 FAM20B Synonymous SNV A374A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.49 87193 chr9 35737860 35737860 G T GBA2 Nonsynonymous SNV A797D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.78 87194 chr9 35737861 35737861 C A GBA2 Nonsynonymous SNV A797S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.339 87195 chr17 41006589 41006589 C T rs146596949 AOC3 Synonymous SNV A575A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.59 87196 chr1 156206088 156206088 C T rs150950899 PMF1, PMF1-BGLAP Synonymous SNV S57S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 20.4 87197 chr1 1562790 1562790 G A rs772788906 MIB2 Nonsynonymous SNV E547K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 87198 chr10 72083659 72083659 C T rs34937946 LRRC20 Synonymous SNV P70P 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 15.25 87199 chr1 201169503 201169503 G A rs994633731 IGFN1 Synonymous SNV Q199Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.344 87200 chr1 180065048 180065048 A G rs138830661 CEP350 Nonsynonymous SNV K2968E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.2 87201 chr1 114424491 114424491 A T rs762309239 BCL2L15 Synonymous SNV I126I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.035 87202 chr17 42253726 42253726 A - rs762553304 ASB16-AS1 0 0 0.119 0 0 0 0 35 0 0 16 0 87203 chr1 181021483 181021483 C T rs35223984 MR1 Synonymous SNV N194N 0.008 0.013 0.014 6 9 5 0.015 4 0 0 0 0 13.62 87204 chr1 16254993 16254993 G A SPEN Nonsynonymous SNV R753K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 87205 chr10 73047513 73047513 A G rs151291345 UNC5B Nonsynonymous SNV I298V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 87206 chr1 201184920 201184920 G A rs147927799 IGFN1 Synonymous SNV R3083R 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 2.667 87207 chr1 163038733 163038733 T C rs372178408 RGS4 Synonymous SNV N3N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.527 87208 chr17 42882973 42882973 G A rs61749924 GJC1 Synonymous SNV L71L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 6.799 87209 chr1 201333433 201333433 C T rs201048783 TNNT2 Nonsynonymous SNV R146H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 87210 chr1 201823807 201823807 A G IPO9 Nonsynonymous SNV T259A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.78 87211 chr1 157659649 157659649 G A rs368744814 FCRL3 Synonymous SNV S583S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.053 87212 chr10 75563071 75563071 T G rs140148133 NDST2 Nonsynonymous SNV Y730S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 87213 chr19 56320629 56320629 T G rs140090548 NLRP11 Synonymous SNV I350I 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 0.197 87214 chr1 165697341 165697341 G A rs78363884 TMCO1 Synonymous SNV L179L 0.032 0.036 0.041 11 37 14 0.028 12 0 0 0 0 12.67 87215 chr17 45360751 45360751 T G rs36080296 ITGB3 Nonsynonymous SNV L66R 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25 87216 chr1 204101381 204101381 G A rs76205451 ETNK2 Synonymous SNV Y186Y 0.012 0.016 0.014 1 14 6 0.003 4 0 1 0 0 2.681 87217 chr17 4574812 4574812 T C rs766489384 PELP1 Synonymous SNV T1105T 0 0 0.007 0 0 0 0 2 0 0 0 0 9.437 87218 chr1 16736138 16736138 A G rs146290198 SPATA21 Nonsynonymous SNV L159S 0.015 0.018 0 5 18 7 0.013 0 0 0 0 0 0.083 87219 chr1 204518499 204518499 C G rs61754765 MDM4 Nonsynonymous SNV P62A 0.001 0.005 0.003 0 1 2 0 1 0 1 0 0 1.885 87220 chr17 46847447 46847447 C T rs138167652 TTLL6 Nonsynonymous SNV V378I 0.001 0 0.024 1 1 0 0.003 7 0 0 0 0 7.72 87221 chr9 79891031 79891031 A G rs79287753 VPS13A Synonymous SNV V906V 0.013 0.005 0 2 15 2 0.005 0 0 0 0 0 Benign 7.984 87222 chr9 79897180 79897180 T C rs78046172 VPS13A Synonymous SNV I1036I 0.012 0.005 0 2 14 2 0.005 0 0 0 0 0 Benign 0.297 87223 chr1 20649862 20649862 G A rs753382070 VWA5B1 Nonsynonymous SNV R327Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.7 87224 chr9 85926813 85926813 A T rs202022598 FRMD3 Nonsynonymous SNV H60Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23 87225 chr10 89621800 89621800 A T rs144811392 KLLN Nonsynonymous SNV W149R 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 10.41 87226 chr10 89621853 89621853 T C rs147932146 KLLN Nonsynonymous SNV N131S 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 8.836 87227 chr10 89621863 89621863 G C rs201652303 KLLN Nonsynonymous SNV R128G 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 23.6 87228 chr10 89624116 89624116 G T rs761148721 PTEN Nonsynonymous SNV A137S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 12.57 87229 chr9 90264935 90264935 G C rs753708136 DAPK1 Nonsynonymous SNV E510Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 87230 chr1 159410354 159410354 A T rs41264479 OR10J1 Nonsynonymous SNV Y258F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.7 87231 chr17 47219531 47219531 G A rs148596818 B4GALNT2 Nonsynonymous SNV R117K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 87232 chr19 5786520 5786520 T C rs540799273 DUS3L Nonsynonymous SNV N265S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 87233 chr17 47788723 47788723 C T rs375320243 FAM117A Nonsynonymous SNV R419Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 87234 chr1 14105291 14105291 G A rs41269803 PRDM2 Nonsynonymous SNV C133Y 0.013 0.01 0.017 3 15 4 0.008 5 0 0 0 0 1.112 87235 chr1 14105922 14105922 G A rs56057569 PRDM2 Synonymous SNV P343P 0.013 0.01 0.017 3 15 4 0.008 5 0 0 0 0 2.147 87236 chr19 5748178 5748178 C G rs77442187 CATSPERD Synonymous SNV L272L 0.022 0.01 0.003 12 26 4 0.031 1 0 0 0 2 6.093 87237 chr1 160786549 160786549 A G rs141800928 LY9 Nonsynonymous SNV N413S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.072 87238 chr1 160801172 160801172 G A rs140746142 CD244 Nonsynonymous SNV R263C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 87239 chr1 160811488 160811488 T C rs34846692 CD244 Nonsynonymous SNV N89D 0.004 0.013 0.01 0 5 5 0 3 0 0 0 0 0.003 87240 chr19 58083706 58083706 - T ZNF416 Stop gain Y450* 0.001 0 0 5 1 0 0.013 0 0 0 0 0 87241 chr1 21012609 21012609 G A rs41310420 KIF17 Nonsynonymous SNV P650L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.166 87242 chr19 58144737 58144737 G T rs781487802 ZNF211 Nonsynonymous SNV R8L 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.004 87243 chr1 160854620 160854620 T C rs35779394 ITLN1 Synonymous SNV G16G 0.014 0.036 0.027 14 17 14 0.036 8 0 1 0 0 0.043 87244 chr19 58265197 58265197 A G rs148368410 ZNF776 Synonymous SNV E233E 0.021 0.008 0.027 6 25 3 0.015 8 1 0 0 0 0.357 87245 chr1 17402216 17402216 G A rs41306576 PADI2 Synonymous SNV H471H 0.01 0.013 0.007 3 12 5 0.008 2 1 0 0 0 Benign 11.79 87246 chr19 57956131 57956131 A G rs137992836 ZNF749 Nonsynonymous SNV K452E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.15 87247 chr17 48701726 48701726 G A rs760269730 CACNA1G Nonsynonymous SNV V1952I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.446 87248 chr1 149898292 149898292 A G rs115070660 SF3B4 Synonymous SNV L228L 0.019 0.016 0.024 6 22 6 0.015 7 0 0 0 0 Benign 0.062 87249 chr1 161993187 161993187 C T rs146578225 OLFML2B Nonsynonymous SNV A12T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.143 87250 chr19 58926903 58926903 C T rs550226776 ZNF584 Nonsynonymous SNV S53L 0.001 0 0 5 1 0 0.013 0 0 0 0 0 3.412 87251 chr17 4908241 4908241 G A rs142056835 KIF1C Nonsynonymous SNV A371T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 22 87252 chr9 100286497 100286497 A G TMOD1 Synonymous SNV K9K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.404 87253 chr17 5087156 5087156 A T rs766475954 ZNF594 Stop gain C132X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 87254 chr9 100849965 100849965 C G rs756632629 TRIM14 Nonsynonymous SNV W372C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 87255 chr17 50939534 50939534 G C rs62061192 LINC02089 0 0 0.31 0 0 0 0 91 0 0 45 0 0.103 87256 chr9 100850052 100850052 G T TRIM14 Synonymous SNV S343S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.146 87257 chr1 201169438 201169438 G A rs967525273 IGFN1 Nonsynonymous SNV D178N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 87258 chr19 58868252 58868252 G A rs35839865 ZNF497 Synonymous SNV D250D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.109 87259 chr9 103109070 103109070 T C rs140613442 TEX10 Nonsynonymous SNV I270V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.06 87260 chr19 6177261 6177261 G T rs141607717 ACSBG2 Nonsynonymous SNV V254L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.018 87261 chr17 54554927 54554927 T A rs768726533 ANKFN1 Nonsynonymous SNV S621T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 24.5 87262 chr17 54554928 54554928 C T rs776681417 ANKFN1 Nonsynonymous SNV S621F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 34 87263 chr19 6389522 6389522 C T rs148541576 GTF2F1 Nonsynonymous SNV V87I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.37 87264 chr17 56272532 56272532 G A rs34599426 EPX 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Likely benign 24.1 87265 chr17 56277106 56277106 T A rs33955150 EPX Nonsynonymous SNV H496Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 87266 chr19 6432112 6432112 G A rs150991235 SLC25A41 Nonsynonymous SNV A104V 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 25.3 87267 chr1 2235378 2235378 C T rs140889128 SKI Synonymous SNV A437A 0.009 0.013 0.003 3 10 5 0.008 1 1 0 0 0 Benign 12.49 87268 chr1 153600595 153600595 - C rs3841800 S100A13 0.015 0.005 0.007 2 18 2 0.005 2 0 0 0 0 87269 chr1 180957475 180957475 C T rs144912513 STX6 Nonsynonymous SNV V65M 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 16.95 87270 chr17 59490235 59490235 C T rs11871637 C17orf82 0 0 0.051 0 0 0 0 15 0 0 7 0 9.764 87271 chr1 225440088 225440088 A G DNAH14 Synonymous SNV L2278L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.083 87272 chr10 102089635 102089635 C A rs117403721 PKD2L1 Nonsynonymous SNV K21N 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 Likely benign 16.3 87273 chr1 204926830 204926830 C T rs368438179 NFASC Synonymous SNV N188N 0 0.005 0 0 0 2 0 0 0 0 0 0 14.09 87274 chr10 102256174 102256174 C T SEC31B Synonymous SNV K717K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.08 87275 chr19 7056553 7056553 C T rs3745554 MBD3L3 Nonsynonymous SNV R136H 0.013 0.005 0 1 15 2 0.003 0 0 0 0 0 0.322 87276 chr19 757321 757321 C T rs35869813 MISP Synonymous SNV R125R 0.015 0.005 0.003 2 18 2 0.005 1 0 0 0 0 Benign 9.041 87277 chr1 1724686 1724686 C T rs143709588 GNB1 Synonymous SNV T65T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.48 87278 chr1 185269425 185269425 A G rs139097733 IVNS1ABP Synonymous SNV S431S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 7.085 87279 chr1 227170655 227170655 C T rs373971613 COQ8A Nonsynonymous SNV R334W 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 34 87280 chr1 186045676 186045676 G T HMCN1 Nonsynonymous SNV A2803S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 87281 chr1 17312685 17312685 T C rs779801274 ATP13A2 Nonsynonymous SNV N1091S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.94 87282 chr9 115030443 115030443 G A rs144570091 PTBP3 Synonymous SNV A12A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 87283 chr9 115216344 115216344 G A rs34258867 C9orf147, HSDL2 Nonsynonymous SNV T131M 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 10.59 87284 chr1 228333749 228333749 C T rs56280722 GUK1 Synonymous SNV P66P 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 14.28 87285 chr1 18808342 18808342 G A KLHDC7A Synonymous SNV V289V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.778 87286 chr1 207497911 207497911 C T rs28371603 CD55 Synonymous SNV C98C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.878 87287 chr1 207818629 207818629 T A rs199980076 CR1L Synonymous SNV P17P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.83 87288 chr1 22843873 22843873 G A rs759497986 ZBTB40 Nonsynonymous SNV G805R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 87289 chr17 655611 655611 A G rs2251564 DBIL5P 0 0 0.051 0 0 0 0 15 0 0 1 0 2.9 87290 chr17 65908834 65908834 A C BPTF Nonsynonymous SNV T1612P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 87291 chr19 8212229 8212229 G A rs142752628 FBN3 Nonsynonymous SNV R46W 0.003 0.003 0.02 2 4 1 0.005 6 0 0 1 0 28.9 87292 chr10 108924154 108924154 C G SORCS1 Nonsynonymous SNV S44T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.38 87293 chr1 228464968 228464968 G T rs374480660 OBSCN Synonymous SNV V2236V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.421 87294 chr10 112404269 112404269 G T rs781263787 RBM20 Synonymous SNV P19P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.83 87295 chr19 8369919 8369921 CTC - rs150384171 CD320 E88del 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 87296 chr1 176664947 176664947 C T rs199765310 PAPPA2 Nonsynonymous SNV R900W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 87297 chr17 67102244 67102244 C G rs776624405 ABCA6 Nonsynonymous SNV W833S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 87298 chr1 228504668 228504668 C T rs746676095 OBSCN Nonsynonymous SNV A4515V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 87299 chr10 114925369 114925369 C A rs77961654 TCF7L2 Nonsynonymous SNV H401Q 0.013 0.016 0.034 12 15 6 0.031 10 0 0 0 0 24.9 87300 chr9 117826246 117826246 T C rs138416542 TNC Nonsynonymous SNV I1197V 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 22.7 87301 chr1 157765901 157765901 T G rs141395160 FCRL1 Nonsynonymous SNV E425D 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 13.86 87302 chr1 200613422 200613422 T C rs776788636 DDX59 Nonsynonymous SNV D493G 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.7 87303 chr10 116045795 116045795 C T rs34495685 VWA2 Synonymous SNV F365F 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 Benign 17.56 87304 chr1 229675268 229675268 T G rs764273977 ABCB10 Nonsynonymous SNV H425P 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 87305 chr1 230838969 230838969 G T rs932663831 AGT Nonsynonymous SNV P459Q 0 0.005 0 0 0 2 0 0 0 0 0 0 25.1 87306 chr1 158812089 158812089 C T rs142166364 MNDA Nonsynonymous SNV T49I 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 7.311 87307 chr1 180159620 180159620 C T rs201390473 QSOX1 Nonsynonymous SNV P398L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 87308 chr1 201176016 201176016 A G rs897469766 IGFN1 Synonymous SNV G665G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.013 87309 chr1 216017816 216017816 T C rs372161373 USH2A Synonymous SNV P3026P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.395 87310 chr1 232650164 232650164 T C rs199588573 SIPA1L2 Nonsynonymous SNV T308A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.465 87311 chr17 72349656 72349656 C T rs72852210 KIF19 Synonymous SNV G748G 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 10.17 87312 chr1 23279776 23279826 CGCTGGAGGCACCAGCGCCTCCACGCGCGGCCCGAACTGGCGCAGGCGCAG - LACTBL1 L484_A500del 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 0 87313 chr1 159846530 159846530 G A rs759693544 CFAP45 Nonsynonymous SNV R390W 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 32 87314 chr1 220233067 220233067 C G BPNT1 Nonsynonymous SNV D192H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 87315 chr19 9009276 9009276 A G rs73005882 MUC16 Nonsynonymous SNV I13066T 0.018 0.008 0 3 21 3 0.008 0 0 0 0 0 0.001 87316 chr9 125673614 125673614 C G rs145697117 ZBTB6 Nonsynonymous SNV M246I 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 13.84 87317 chr17 72861894 72861894 T A FDXR Nonsynonymous SNV N146Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 87318 chr1 202128601 202128601 C T rs61757798 PTPN7 Nonsynonymous SNV R16Q 0.026 0.034 0.027 16 31 13 0.041 8 1 0 0 0 9.669 87319 chr1 16057029 16057029 A G rs116455686 PLEKHM2 Synonymous SNV A737A 0.009 0.01 0.01 4 11 4 0.01 3 1 0 0 0 Benign 6.399 87320 chr17 72926886 72926886 T A rs144792513 OTOP2 Nonsynonymous SNV S386T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 87321 chr1 184702106 184702106 G A EDEM3 Synonymous SNV H159H 0.003 0 0 0 4 0 0 0 1 0 0 0 3.315 87322 chr1 161023133 161023133 G A rs148479983 ARHGAP30 Synonymous SNV A16A 0.02 0.01 0.034 9 23 4 0.023 10 0 0 0 0 12.37 87323 chr1 186084056 186084056 G A rs530972182 HMCN1 Synonymous SNV R3794R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 87324 chr1 186120461 186120461 C A rs138232561 HMCN1 Nonsynonymous SNV T4913N 0.006 0.003 0 0 7 1 0 0 1 0 0 0 Uncertain significance 24.1 87325 chr1 18691980 18691980 G C IGSF21 Synonymous SNV T268T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 11.98 87326 chr17 73569666 73569666 C T rs142772898 LLGL2 Nonsynonymous SNV R944C 0.006 0.003 0.01 4 7 1 0.01 3 0 0 0 0 21.2 87327 chr17 74005545 74005545 C T rs534647471 EVPL Synonymous SNV T1269T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 87328 chr9 131287573 131287573 G A rs138310419 GLE1 Nonsynonymous SNV E334K 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 Benign/Likely benign 22.1 87329 chr1 196706677 196706677 G T rs515299 CFH Nonsynonymous SNV S890I 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 0.463 87330 chr1 196711067 196711067 G T rs534399 CFH Nonsynonymous SNV V1007L 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Benign 0.073 87331 chr17 74289648 74289648 G A rs118098530 QRICH2 Nonsynonymous SNV P221L 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 7.912 87332 chr17 74290008 74290008 G T rs62621822 QRICH2 Nonsynonymous SNV P101Q 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 21.3 87333 chr1 196952199 196952199 G A rs7532068 CFHR5 Synonymous SNV P81P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 10.62 87334 chr1 196953167 196953167 A C rs61745675 CFHR5 Synonymous SNV V110V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 0.03 87335 chr1 196963286 196963286 C T rs34533956 CFHR5 Synonymous SNV D169D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 11.2 87336 chr1 197070464 197070464 T C rs112647911 ASPM Synonymous SNV K2639K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 8.872 87337 chr1 197071028 197071028 C T rs111487086 ASPM Synonymous SNV L2451L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 12.91 87338 chr1 241798287 241798287 T G CHML Nonsynonymous SNV N261T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 87339 chr1 197098326 197098326 G A rs33987824 ASPM Synonymous SNV A917A 0.019 0.018 0.014 6 22 7 0.015 4 0 0 0 0 Benign/Likely benign 16.09 87340 chr19 9091337 9091337 C T rs199922056 MUC16 Nonsynonymous SNV E160K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.421 87341 chr1 198711093 198711093 A G rs975797535 PTPRC Synonymous SNV K672K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.527 87342 chr17 7507369 7507369 A G rs779852983 FXR2 Synonymous SNV P86P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.614 87343 chr1 243437886 243437886 C T rs143226730 SDCCAG8 Synonymous SNV H116H 0.001 0.013 0.003 1 1 5 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.979 87344 chr17 76105731 76105731 C T rs2613513 TNRC6C-AS1 0 0 0.075 0 0 0 0 22 0 0 1 0 5.565 87345 chr17 76105754 76105754 G A rs2748431 TNRC6C-AS1 0 0 0.075 0 0 0 0 22 0 0 1 0 1.077 87346 chr17 76496665 76496665 A G rs2588550 DNAH17-AS1 0 0 0.061 0 0 0 0 18 0 0 5 0 1.713 87347 chr1 212180074 212180074 A T rs772130032 INTS7 Nonsynonymous SNV N213K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.26 87348 chr10 135107149 135107149 G A rs138806049 TUBGCP2 Synonymous SNV L117L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 13.01 87349 chr9 134505677 134505677 C T rs116942407 RAPGEF1 Nonsynonymous SNV R229H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 19.64 87350 chr1 201282592 201282592 G A rs78314242 PKP1 Nonsynonymous SNV R202H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 87351 chr1 172526467 172526467 C T SUCO Nonsynonymous SNV T127I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 18.39 87352 chr1 173020073 173020073 A T rs185993550 TNFSF18 Stop gain C10X 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 34 87353 chr1 173722369 173722369 T A KLHL20 Synonymous SNV R258R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.008 87354 chr1 109735387 109735387 G A rs377394786 KIAA1324 Nonsynonymous SNV R275Q 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 23.3 87355 chr9 135864513 135864513 C T rs150813342 GFI1B Synonymous SNV F192F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.21 87356 chr17 7751531 7751531 C T rs201403136 KDM6B Nonsynonymous SNV P642L 0.009 0.005 0.02 4 11 2 0.01 6 0 0 0 0 Likely benign 23.1 87357 chr9 135983408 135983408 A G rs142772650 RALGDS Synonymous SNV D333D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.114 87358 chr9 136198906 136198906 G A rs35671563 SURF6 Synonymous SNV R295R 0.009 0.003 0.017 3 10 1 0.008 5 0 0 0 0 2.286 87359 chr9 136260801 136260803 GGA - rs782211908 STKLD1 E261del 0.002 0 0 0 2 0 0 0 0 0 0 0 87360 chr1 109811522 109811522 G A rs148006855 CELSR2 Nonsynonymous SNV D2175N 0.013 0.016 0.007 9 15 6 0.023 2 0 0 0 0 Benign 21.4 87361 chr1 2340173 2340173 C T rs146452560 PEX10 Synonymous SNV L106L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign/Likely benign 8.24 87362 chr1 248058976 248058976 G A OR2W3 Nonsynonymous SNV V30I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.605 87363 chr11 433904 433904 C T rs137970750 ANO9 Nonsynonymous SNV V39M 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 26.1 87364 chr1 234509136 234509136 C T rs141632934 COA6-AS1 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 8.751 87365 chr1 17723586 17723586 C T rs142642869 PADI6 Synonymous SNV I546I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.334 87366 chr1 248085126 248085126 C T rs372918711 OR2T8 Synonymous SNV D269D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.857 87367 chr1 204943314 204943314 G A rs147657218 NFASC Synonymous SNV P440P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 13.75 87368 chr11 774012 774012 G A rs367961327 GATD1 Synonymous SNV I31I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.573 87369 chr17 79104970 79104970 G A rs199818976 AATK Synonymous SNV A75A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 7.235 87370 chr1 224415287 224415287 G A rs77386096 LOC101927164 0.012 0.01 0.007 2 14 4 0.005 2 0 0 0 0 3.322 87371 chr1 225211404 225211404 C G DNAH14 Nonsynonymous SNV R399G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.4 87372 chr17 79219635 79219635 C T rs190816906 SLC38A10 Synonymous SNV P1027P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 87373 chr9 139402584 139402584 G A rs61751545 NOTCH1 Synonymous SNV D1111D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 2.031 87374 chr1 248551544 248551544 C T rs368468841 OR2T6 Nonsynonymous SNV S212L 0 0.005 0 0 0 2 0 0 0 0 0 0 20.2 87375 chr1 112018649 112018649 G T rs138773319 C1orf162 Nonsynonymous SNV A3S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 10.15 87376 chr1 113240710 113240710 C T rs767983345 MOV10 Nonsynonymous SNV R765C 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 24.3 87377 chr1 114226043 114226043 C T rs368369545 MAGI3 Nonsynonymous SNV R1285W 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 25.4 87378 chr1 25573016 25573016 A G rs34619962 RSRP1 Nonsynonymous SNV Y147H 0.009 0.018 0 9 11 7 0.023 0 0 0 0 0 25.6 87379 chr17 80043657 80043657 G A rs546995952 FASN Nonsynonymous SNV R1275C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.2 87380 chr1 2447015 2447015 C T PANK4 Nonsynonymous SNV E454K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 87381 chr1 245530546 245530546 C T rs200520003 KIF26B Synonymous SNV L292L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.79 87382 chr1 245850921 245850921 C T rs200537329 KIF26B Nonsynonymous SNV R1546W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.11 87383 chr1 27332637 27332637 T G rs151266984 TENT5B Nonsynonymous SNV N359T 0.008 0.013 0.014 5 9 5 0.013 4 0 0 0 0 14.89 87384 chr1 117504095 117504095 C T rs767876294 PTGFRN Nonsynonymous SNV R482W 0.002 0.005 0 6 2 2 0.015 0 0 0 0 1 34 87385 chr11 1017744 1017744 T C rs200243990 MUC6 Nonsynonymous SNV N1686S 0.01 0.013 0.024 1 12 5 0.003 7 0 0 0 0 0.001 87386 chr1 1900211 1900211 C T rs78791970 CFAP74 Nonsynonymous SNV E370K 0.009 0.018 0.01 9 11 7 0.023 3 0 0 0 0 6.158 87387 chr1 212224946 212224946 G T rs113106720 RPL21P28 0.025 0.016 0 13 29 6 0.033 0 9 1 0 6 10.65 87388 chr1 29585137 29585137 G A rs746575215 PTPRU Nonsynonymous SNV R109Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27 87389 chr17 9549174 9549174 C G rs552978792 USP43 Synonymous SNV P75P 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 17.26 87390 chr17 9549360 9549360 T G rs114382285 USP43 Synonymous SNV A137A 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 1.089 87391 chr1 118628623 118628623 G C rs112542201 SPAG17 Nonsynonymous SNV Q562E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 2.028 87392 chr18 1269520 1269520 C A rs9961623 LINC00470 0 0 0.014 0 0 0 0 4 0 0 0 0 7.826 87393 chr18 1269521 1269521 C T rs79060362 LINC00470 0 0 0.01 0 0 0 0 3 0 0 0 0 3.421 87394 chr1 32568070 32568070 C T rs41306615 TMEM39B Synonymous SNV L226L 0 0.013 0.003 5 0 5 0.013 1 0 1 0 0 10.5 87395 chr1 232568022 232568022 G A rs771237695 SIPA1L2 Synonymous SNV P1409P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.99 87396 chr1 120278032 120278032 A G rs1026407182 PHGDH Nonsynonymous SNV Q253R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 21 87397 chr1 248059182 248059182 C A OR2W3 Synonymous SNV A98A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.8 87398 chr1 12089106 12089106 C G rs781573688 MIIP Nonsynonymous SNV S188R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.919 87399 chr1 33945230 33945230 G A rs751311263 ZSCAN20 Nonsynonymous SNV R114H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 87400 chr1 201038636 201038636 C T rs141619541 CACNA1S Synonymous SNV A818A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign/Likely benign 11.79 87401 chr18 21427572 21427572 C A rs199693643 LAMA3 Nonsynonymous SNV S1359Y 0 0 0.003 2 0 0 0.005 1 0 0 0 0 28.7 87402 chr1 33956890 33956890 T C rs41265905 ZSCAN20 Synonymous SNV S344S 0.015 0.031 0.027 4 18 12 0.01 8 0 0 0 0 5.527 87403 chr10 5922271 5922271 T C rs773925326 ANKRD16 Synonymous SNV K306K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.319 87404 chr10 8006544 8006544 C T rs149754469 TAF3 Synonymous SNV I357I 0.009 0.01 0.017 2 10 4 0.005 5 0 0 0 0 Benign 0.156 87405 chr1 151263406 151263406 C T rs142457404 ZNF687 Synonymous SNV A1145A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 14.85 87406 chr1 38187331 38187331 C T rs775024163 EPHA10 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 87407 chr1 203192681 203192681 T G rs183706407 CHIT1 Nonsynonymous SNV Y122S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 87408 chr1 2573120 2573120 C T rs773963798 TTC34 Nonsynonymous SNV R976Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 87409 chr1 224566784 224566784 C T rs200306692 CNIH4 Nonsynonymous SNV P136S 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 7.345 87410 chr1 203696548 203696548 C T rs148156799 ATP2B4 Nonsynonymous SNV S1053F 0.015 0.008 0.014 2 18 3 0.005 4 0 0 0 0 Benign 23.9 87411 chr1 38355232 38355232 A - INPP5B F101Sfs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 87412 chr1 150530043 150530043 G A rs41317525 ADAMTSL4 Synonymous SNV A707A 0.014 0.005 0.003 6 16 2 0.015 1 0 0 0 0 Benign 9.764 87413 chr1 23779253 23779253 C G rs201194561 ASAP3 Nonsynonymous SNV L120F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28 87414 chr1 226027735 226027735 G A rs143164964 EPHX1 Nonsynonymous SNV V310I 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 19.65 87415 chr1 152331354 152331354 C T rs140278027 FLG2 Nonsynonymous SNV D3N 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 13.91 87416 chr10 17127693 17127693 T C rs137892259 CUBN Synonymous SNV P671P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 2.799 87417 chr1 152595347 152595347 C G rs114232970 LCE3A Nonsynonymous SNV S78T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.71 87418 chr1 42048869 42048869 G T rs150413814 HIVEP3 Nonsynonymous SNV P534T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.69 87419 chr1 228482686 228482686 T C rs372814497 OBSCN Synonymous SNV T3867T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.293 87420 chr1 228698143 228698143 G A rs189572020 BTNL10 Nonsynonymous SNV P182S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 1.812 87421 chr1 228699619 228699619 G A rs182509913 BTNL10 Nonsynonymous SNV P14S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 6.491 87422 chr1 153914770 153914770 C T rs185849678 DENND4B Nonsynonymous SNV V246I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 87423 chr1 229772802 229772802 C T rs202130043 URB2 Synonymous SNV C814C 0.004 0 0 0 5 0 0 0 0 0 0 0 11.59 87424 chr10 24817027 24817027 G T rs148599992 KIAA1217 Nonsynonymous SNV V704L 0.014 0.021 0.01 1 17 8 0.003 3 0 0 0 0 Likely benign 2.786 87425 chr11 1017024 1017024 T A rs796211588 MUC6 Nonsynonymous SNV H1926L 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 11.85 87426 chr18 56149069 56149069 C T rs543965909 ALPK2 Nonsynonymous SNV E2167K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 87427 chr10 25241502 25241502 C T rs143356584 PRTFDC1 Star tloss M1? 0.012 0.008 0 3 14 3 0.008 0 0 0 0 0 23.6 87428 chr1 154544590 154544590 G C rs1064796396 CHRNB2 Nonsynonymous SNV V431L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.9 87429 chr1 44137315 44137315 C G rs145410085 KDM4A Nonsynonymous SNV F501L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.86 87430 chr1 44137317 44137317 - TTGTCT rs747080315 KDM4A S502_G503insCL 0 0.003 0 0 0 1 0 0 0 0 0 0 87431 chr1 44137318 44137318 A T rs201313043 KDM4A Synonymous SNV S502S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.867 87432 chr1 44137320 44137320 G T rs201318621 KDM4A Nonsynonymous SNV G503V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.45 87433 chr1 233275581 233275581 A G rs201584866 PCNX2 Nonsynonymous SNV F1180L 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 32 87434 chr1 209949055 209949055 C T rs41307652 TRAF3IP3 Nonsynonymous SNV L79F 0.023 0.018 0.003 10 27 7 0.026 1 1 1 0 0 22.3 87435 chr1 154842199 154842199 - GCTGCTGCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQQQ 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 87436 chr18 57106987 57106987 G A rs61745250 CCBE1 Synonymous SNV P279P 0.006 0.003 0.024 7 7 1 0.018 7 0 0 0 0 Conflicting interpretations of pathogenicity 14.4 87437 chr1 155231927 155231927 C T rs141316726 SCAMP3 Nonsynonymous SNV D6N 0.018 0.031 0.014 6 21 12 0.015 4 0 0 0 0 22.4 87438 chr18 59174655 59174655 C T rs141370412 CDH20 Synonymous SNV V293V 0 0 0.007 0 0 0 0 2 0 0 0 0 18 87439 chr1 210010524 210010524 G A rs41274840 UTP25 Nonsynonymous SNV D344N 0.016 0.01 0.014 8 19 4 0.021 4 0 0 0 0 24.8 87440 chr10 28970280 28970280 A G BAMBI Nonsynonymous SNV D57G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 87441 chr1 235600732 235600732 G A rs542526764 TBCE Synonymous SNV T240T 0.003 0 0 0 4 0 0 0 0 0 0 0 8.151 87442 chr10 35318505 35318505 C T rs753352576 CUL2 Nonsynonymous SNV A421T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 87443 chr1 47904143 47904143 G C rs755190355 FOXD2 Synonymous SNV P112P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.474 87444 chr10 45467224 45467224 G A rs137971526 RASSF4 Synonymous SNV S22S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 87445 chr1 156883068 156883068 T C rs763893700 PEAR1 Synonymous SNV P835P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.554 87446 chr1 157068533 157068533 G A rs12083811 ETV3L Nonsynonymous SNV R151W 0.016 0.016 0.058 5 19 6 0.013 17 0 0 0 0 22.3 87447 chr18 72020572 72020573 AA - rs768586087 C18orf63 L359Sfs*36 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 87448 chr1 157665853 157665853 G A rs763145695 FCRL3 Nonsynonymous SNV T370M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.86 87449 chr1 157804322 157804322 C T rs202111822 CD5L Nonsynonymous SNV R198Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.989 87450 chr10 47000019 47000019 G A rs150696937 GPRIN2 Nonsynonymous SNV R380Q 0.008 0.01 0.017 2 9 4 0.005 5 0 0 0 0 24.1 87451 chr1 158517792 158517792 A G rs201528931 OR6Y1 Nonsynonymous SNV I35T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.809 87452 chr11 5529233 5529233 C T rs187757715 UBQLN3 Nonsynonymous SNV R519H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.5 87453 chr10 48382091 48382091 G - RBP3 N1187Tfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 87454 chr10 50085121 50085121 G A WDFY4 Synonymous SNV V2348V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.418 87455 chr1 26671690 26671690 A G rs112674559 CRYBG2 Nonsynonymous SNV S487P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.829 87456 chr18 77246538 77246538 G A rs56191735 NFATC1 Nonsynonymous SNV G323R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.684 87457 chr1 15844885 15844885 T C CASP9 Synonymous SNV A46A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.273 87458 chr1 223567267 223567267 C T rs6679661 CCDC185 Synonymous SNV P150P 0.039 0.049 0.034 21 46 19 0.054 10 0 1 0 0 13.14 87459 chr1 223567401 223567401 T C rs6689850 CCDC185 Nonsynonymous SNV V195A 0.039 0.052 0.034 21 46 20 0.054 10 0 1 0 0 2.155 87460 chr1 27100153 27100153 G A rs771094321 ARID1A Nonsynonymous SNV G1317R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.8 87461 chr1 223567531 223567531 G A rs2298063 CCDC185 Synonymous SNV P238P 0.039 0.052 0.034 21 46 20 0.054 10 0 1 0 0 6.937 87462 chr1 244218489 244218489 C T rs747152651 ZBTB18 Synonymous SNV R462R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.53 87463 chr1 223998136 223998136 G A rs202154655 TP53BP2 Synonymous SNV N123N 0.003 0 0 0 4 0 0 0 0 0 0 0 9.228 87464 chr1 245851448 245851448 C T rs80110579 KIF26B Synonymous SNV S1721S 0.008 0.005 0.014 0 9 2 0 4 0 0 0 0 Benign 2.205 87465 chr1 55558536 55558536 A G USP24 Synonymous SNV S2136S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 8.491 87466 chr1 28856429 28856429 C G rs773892008 RCC1 Nonsynonymous SNV I17M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 19.37 87467 chr10 50948766 50948766 G A rs746116122 OGDHL Synonymous SNV Y501Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.261 87468 chr10 50960718 50960718 C A rs145063180 OGDHL Synonymous SNV V91V 0.019 0.016 0.01 2 22 6 0.005 3 0 0 0 0 16.59 87469 chr1 160000488 160000488 G C rs201082832 PIGM Nonsynonymous SNV P348A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.554 87470 chr10 54528236 54528236 G A rs35805975 MBL2 Synonymous SNV N136N 0.02 0.021 0.024 10 24 8 0.026 7 0 0 0 0 Uncertain significance 0.272 87471 chr1 160143481 160143481 G A rs769118393 ATP1A4 Synonymous SNV K655K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.062 87472 chr10 55973755 55973755 G A rs111033436 PCDH15 Nonsynonymous SNV L310F 0.016 0.021 0 3 19 8 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 87473 chr1 16070951 16070951 C T rs150471816 TMEM82 Synonymous SNV A211A 0.006 0 0 0 7 0 0 0 0 0 0 0 10.56 87474 chr1 16071015 16071015 G A rs138542533 TMEM82 Nonsynonymous SNV A233T 0.006 0 0 0 7 0 0 0 0 0 0 0 32 87475 chr1 46033748 46033748 G A rs202106076 AKR1A1 Nonsynonymous SNV V151M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 87476 chr1 6311553 6311553 G A rs200685675 GPR153 Nonsynonymous SNV A275V 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 24 87477 chr1 34112393 34112393 G A rs543010187 CSMD2 Synonymous SNV D1543D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.5 87478 chr10 70243213 70243213 C T rs183860204 SLC25A16 Nonsynonymous SNV M191I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 87479 chr1 16256006 16256006 C G rs74054883 SPEN Nonsynonymous SNV L1091V 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 0.003 87480 chr1 6640952 6640952 G C ZBTB48 Nonsynonymous SNV V95L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 87481 chr1 67109277 67109277 G C rs17490057 SGIP1 Nonsynonymous SNV E88Q 0.026 0.029 0.01 7 31 11 0.018 3 0 1 0 0 27.5 87482 chr1 229750107 229750107 C A TAF5L Nonsynonymous SNV E41D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 87483 chr11 6898540 6898540 G A rs7938371 OR10A4 Nonsynonymous SNV R221H 0.004 0.008 0.014 4 5 3 0.01 4 0 0 1 0 21.2 87484 chr11 6912817 6912817 C T rs144459508 OR2D2 Synonymous SNV R305R 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 7.32 87485 chr1 36557401 36557401 A G rs139736291 ADPRHL2 Nonsynonymous SNV Y164C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 87486 chr11 7021875 7021875 T A rs61879014 ZNF214 Nonsynonymous SNV I347F 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 15.49 87487 chr11 7021922 7021922 T C rs143785175 ZNF214 Nonsynonymous SNV Y331C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 16.49 87488 chr1 232601159 232601159 A G rs201017150 SIPA1L2 Synonymous SNV V749V 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 1.701 87489 chr1 16558696 16558696 C T rs34462760 CPLANE2 Synonymous SNV P208P 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 13.33 87490 chr1 72163743 72163743 C T rs772562752 NEGR1 Synonymous SNV A205A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.49 87491 chr1 23285251 23285251 G A rs541473911 LACTBL1 Synonymous SNV D193D 0.006 0 0 1 7 0 0.003 0 0 0 0 0 2.027 87492 chr11 7064447 7064447 C T rs76670455 NLRP14 Nonsynonymous SNV T397I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 27.3 87493 chr1 3800084 3800084 C T rs533214101 DFFB Nonsynonymous SNV R290C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 87494 chr10 72020461 72020461 G A rs200754367 NPFFR1 Synonymous SNV S119S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 13.95 87495 chr1 52249982 52249982 C A OSBPL9 Nonsynonymous SNV F379L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 87496 chr1 248525384 248525384 A G OR2T4 Nonsynonymous SNV M168V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.96 87497 chr1 38041276 38041276 G A rs375198771 GNL2 Nonsynonymous SNV R172C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 87498 chr10 72360140 72360140 C T rs112883709 PRF1 Synonymous SNV T173T 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.48 87499 chr11 7694013 7694013 T G rs11041525 CYB5R2 Nonsynonymous SNV E15A 0.014 0.013 0.02 4 16 5 0.01 6 0 0 0 0 13.74 87500 chr10 72360291 72360291 C T rs139336186 PRF1 Nonsynonymous SNV R123H 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.12 87501 chr1 167038312 167038312 G A rs554198303 GPA33 Nonsynonymous SNV R88C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 87502 chr19 11558340 11558340 - GAGGAGGAG rs754387112 PRKCSH E325_A326insEEE 0 0 0.003 0 0 0 0 1 0 0 0 0 87503 chr19 11833390 11833390 C T rs144085286 ZNF823 Nonsynonymous SNV R138Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 14.76 87504 chr1 169199981 169199981 C T rs766542217 NME7 Nonsynonymous SNV R322Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 87505 chr10 72538357 72538357 G A rs377244997 TBATA Nonsynonymous SNV R155W 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 27.3 87506 chr1 53676046 53676046 C G CPT2 Nonsynonymous SNV L234V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 87507 chr11 8122091 8122091 C T rs72848487 TUB Synonymous SNV S386S 0.009 0.021 0.02 8 10 8 0.021 6 0 0 0 0 20.2 87508 chr1 53927262 53927262 C T rs138758029 DMRTB1 Nonsynonymous SNV P232S 0.009 0.016 0.007 7 11 6 0.018 2 0 0 0 0 21.8 87509 chr1 170136837 170136837 G A METTL11B Nonsynonymous SNV G264D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.5 87510 chr10 73269715 73269715 G A rs78015574 CDH23-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 2.511 87511 chr10 73492027 73492027 G A rs111033453 CDH23 Synonymous SNV V1333V 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.389 87512 chr19 13051336 13051336 C T rs75453089 MIR6515 0 0 0.003 0 0 0 0 1 0 0 0 0 6.703 87513 chr10 73544686 73544686 C T rs148632119 CDH23 Synonymous SNV N1847N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 14.49 87514 chr11 9225759 9225759 - C DENND5A Frameshift insertion F109Vfs*7 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 87515 chr19 13875764 13875764 G A rs775128784 MRI1 Nonsynonymous SNV G71E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.104 87516 chr1 17323630 17323630 C G rs55943100 ATP13A2 Synonymous SNV G355G 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.816 87517 chr1 236739524 236739524 C T rs766001824 HEATR1 Nonsynonymous SNV G1027S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.939 87518 chr19 14070706 14070706 - GGTGGGCCCAGGGCGGGCAG rs141180609 DCAF15 Frameshift insertion C482Gfs*59 0 0 0.16 0 0 0 0 47 0 0 12 0 87519 chr1 174417511 174417511 C G rs1052750032 GPR52 Nonsynonymous SNV L88V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.5 87520 chr19 14677588 14677588 G A rs368250480 NDUFB7 Synonymous SNV C90C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.29 87521 chr19 1470180 1470180 C G rs751417903 APC2 Nonsynonymous SNV P2293A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.209 87522 chr1 43738822 43738822 G A rs34242274 TMEM125 Synonymous SNV P143P 0.003 0.008 0.01 5 3 3 0.013 3 0 0 0 0 5.025 87523 chr1 24194776 24194776 T C rs558338123 FUCA1 Star tloss M1? 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 8.921 87524 chr1 32101056 32101056 T C rs368906197 PEF1 Nonsynonymous SNV N31S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.002 87525 chr19 15292438 15292438 G T rs908559600 NOTCH3 Nonsynonymous SNV P914Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 87526 chr10 88439177 88439177 G A rs45591834 LDB3 Synonymous SNV V49V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.477 87527 chr19 1555359 1555359 C T rs376659727 MEX3D Nonsynonymous SNV G658S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.21 87528 chr1 24202065 24202065 C A rs142134658 CNR2 Nonsynonymous SNV D15Y 0.006 0 0 1 7 0 0.003 0 0 0 0 0 14.69 87529 chr1 32797169 32797169 C T rs147957656 HDAC1 Synonymous SNV Y358Y 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.99 87530 chr10 89473896 89473896 C T rs141604779 PAPSS2 Synonymous SNV D159D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.45 87531 chr1 242042437 242042437 G A rs4149978 EXO1 Nonsynonymous SNV R634Q 0.009 0 0.003 4 10 0 0.01 1 0 0 0 0 4.987 87532 chr1 24406617 24406617 T C rs768542740 MYOM3 Synonymous SNV P825P 0.005 0 0 0 6 0 0 0 0 0 0 0 0.023 87533 chr1 33487007 33487007 C T rs61750965 AK2 Nonsynonymous SNV S87N 0.009 0.005 0.01 4 11 2 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 17.68 87534 chr11 17568934 17568934 G A rs770222544 OTOG Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.514 87535 chr1 6304454 6304454 A G rs114198341 HES3 Nonsynonymous SNV N10S 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 25.9 87536 chr1 17660468 17660468 C A rs34309058 PADI4 Nonsynonymous SNV P102T 0.021 0.01 0.007 8 25 4 0.021 2 0 0 0 0 1.649 87537 chr1 34190951 34190951 C G rs61735686 CSMD2 Nonsynonymous SNV E898D 0.003 0 0 0 4 0 0 0 0 0 0 0 25.7 87538 chr1 179013204 179013204 G A rs11802142 FAM20B Synonymous SNV R74R 0.026 0.018 0.041 18 31 7 0.046 12 1 0 0 0 7.703 87539 chr11 19172300 19172300 G A rs137986677 ZDHHC13 Synonymous SNV G52G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.353 87540 chr1 93160880 93160880 A G rs143611208 EVI5 Nonsynonymous SNV I343T 0.009 0.026 0.014 4 10 10 0.01 4 0 0 1 0 Likely benign 23.4 87541 chr11 19213986 19213986 A G rs45550635 CSRP3 Nonsynonymous SNV W4R 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 87542 chr1 36226771 36226771 C T rs543042137 CLSPN Synonymous SNV E310E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 87543 chr1 67266823 67266823 G A rs141211720 INSL5 Nonsynonymous SNV L28F 0 0.005 0 0 0 2 0 0 0 0 0 0 24 87544 chr1 3700618 3700618 G A rs74764187 LRRC47 Synonymous SNV L418L 0.027 0.018 0.014 11 32 7 0.028 4 0 0 0 0 12.42 87545 chr1 3712513 3712513 G C rs148481344 LRRC47 Synonymous SNV G176G 0.026 0.016 0.014 11 31 6 0.028 4 0 0 0 0 0.621 87546 chr1 48877227 48877227 G A SPATA6 Nonsynonymous SNV T91I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 27.7 87547 chr10 96802737 96802737 G A rs11188150 CYP2C8 Synonymous SNV H251H 0.014 0.008 0.003 0 16 3 0 1 0 0 0 0 Benign 3.469 87548 chr11 20127263 20127263 C T rs188385974 NAV2 Synonymous SNV D1341D 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 15.21 87549 chr1 184723777 184723777 T G rs185774628 EDEM3 Nonsynonymous SNV S2R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26 87550 chr1 186276242 186276262 CCAAGGAGCCTGCACCCACCA - rs755217248 PRG4 K338_T344del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 87551 chr1 976629 976629 C T rs113789806 AGRN Synonymous SNV A268A 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 Benign 13.51 87552 chr1 98039419 98039419 C T rs56038477 DPYD Synonymous SNV E412E 0.009 0.008 0 5 11 3 0.013 0 0 0 0 0 Benign/Likely benign 14.03 87553 chr1 985900 985900 C T rs17160776 AGRN Synonymous SNV F1690F 0.015 0.008 0.01 4 18 3 0.01 3 0 0 0 0 Benign 13.39 87554 chr1 986737 986737 T C rs17160781 AGRN Synonymous SNV G1786G 0.014 0.01 0.007 4 17 4 0.01 2 0 0 0 0 Benign 0.027 87555 chr1 39838174 39838174 T C rs80197726 MACF1 Synonymous SNV S2311S 0.015 0.016 0.058 9 18 6 0.023 17 0 0 0 0 9.511 87556 chr1 39878815 39878815 A G rs1746842 KIAA0754 Nonsynonymous SNV I960V 0.015 0.016 0.058 9 18 6 0.023 17 0 0 0 0 0.001 87557 chr1 75602807 75602807 A G rs373338242 LHX8 Nonsynonymous SNV D33G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 87558 chr1 39917888 39917888 C A rs1746838 MACF1 Synonymous SNV R4768R 0.015 0.016 0.058 9 18 6 0.023 17 0 0 0 0 22.4 87559 chr11 27434405 27434405 T A LGR4 Nonsynonymous SNV D63V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.7 87560 chr19 17664324 17664324 C T rs138526761 NIBAN3 Synonymous SNV T408T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 87561 chr1 40036944 40036944 G A rs61743745 PABPC4 Synonymous SNV I155I 0.01 0.016 0.034 4 12 6 0.01 10 0 0 0 0 13.58 87562 chr20 1184297 1184297 T C rs200938762 C20orf202 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.5 87563 chr1 7798073 7798073 A G rs778503877 CAMTA1 Nonsynonymous SNV K281R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 87564 chr20 1285978 1285978 G A rs181513642 SNPH Synonymous SNV T255T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 87565 chr1 1904452 1904452 T C rs200874085 CFAP74 Nonsynonymous SNV R237G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.038 87566 chr20 1291118 1291118 G A rs149040516 SDCBP2 Synonymous SNV H197H 0.004 0.008 0 0 5 3 0 0 0 0 0 0 6.439 87567 chr11 33047563 33047563 A G rs770594618 DEPDC7 Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 87568 chr1 40929077 40929077 C G rs139213019 ZFP69B Nonsynonymous SNV P474R 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 28.1 87569 chr19 1796980 1796980 C T rs758637542 ATP8B3 Nonsynonymous SNV R479Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.609 87570 chr1 41949838 41949838 G A rs41269471 EDN2 Nonsynonymous SNV A34V 0.009 0.01 0.003 2 10 4 0.005 1 0 1 0 0 4.417 87571 chr10 101595933 101595933 T C rs140680467 ABCC2 Nonsynonymous SNV V1167A 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 87572 chr10 102777310 102777310 G A rs750402988 PDZD7 Nonsynonymous SNV P538L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.953 87573 chr1 19923553 19923553 A C rs140579749 MICOS10 Nonsynonymous SNV E5A 0.005 0 0 3 6 0 0.008 0 0 0 0 0 21.2 87574 chr19 18971194 18971194 C T rs45505499 UPF1 Synonymous SNV Y760Y 0.018 0.018 0.017 8 21 7 0.021 5 0 0 0 1 Benign 16.14 87575 chr20 17639526 17639526 C T rs375628414 RRBP1 Nonsynonymous SNV A543T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 5.581 87576 chr10 105193754 105193754 G A rs61760969 PDCD11 Nonsynonymous SNV R1175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 87577 chr10 105201595 105201595 A C rs61751513 PDCD11 Nonsynonymous SNV K1524Q 0.005 0.016 0.003 7 6 6 0.018 1 0 0 0 0 11.69 87578 chr1 62614027 62614027 T G PATJ Synonymous SNV G1781G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.32 87579 chr1 201058528 201058528 C T rs768015104 CACNA1S Nonsynonymous SNV R253Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 12.22 87580 chr11 46896432 46896432 T G rs202151304 LRP4 Nonsynonymous SNV E1383A 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 18.13 87581 chr20 18505200 18505200 G T rs36023150 SEC23B Nonsynonymous SNV V164L 0.014 0.026 0.017 6 16 10 0.015 5 1 0 0 0 Benign 29.3 87582 chr19 19745842 19745842 C G rs759254567 GMIP Nonsynonymous SNV D552H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 87583 chr1 63003707 63003707 G A rs537709953 DOCK7 Nonsynonymous SNV P1078L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 23.8 87584 chr1 6387459 6387459 C A rs371107823 ACOT7 Nonsynonymous SNV E175D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.22 87585 chr19 21476107 21476107 T C rs62620702 ZNF708 Nonsynonymous SNV H490R 0.008 0.013 0.01 5 9 5 0.013 3 0 0 0 0 22.9 87586 chr10 113924339 113924339 C G rs140253495 GPAM Synonymous SNV P417P 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 10.93 87587 chr10 115327273 115327273 G T rs61867369 HABP2 Nonsynonymous SNV S6I 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 Likely benign 0.447 87588 chr1 47737772 47737772 C T rs148818578 STIL Nonsynonymous SNV G787S 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Uncertain significance 16.93 87589 chr1 31896616 31896616 G T SERINC2 Nonsynonymous SNV R43L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 28.9 87590 chr1 31899592 31899592 C T rs555491948 SERINC2 Synonymous SNV H238H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.48 87591 chr19 2426038 2426038 C T rs759515840 TMPRSS9 Synonymous SNV T1044T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 87592 chr19 24289375 24289375 G T rs779551926 ZNF254 Synonymous SNV L61L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 3.242 87593 chr19 24345755 24345757 GTT - rs201495749 HAVCR1P1 0 0 0.01 0 0 0 0 3 0 0 1 0 87594 chr1 202279464 202279464 G T rs6668765 LGR6 Nonsynonymous SNV A377S 0.008 0.01 0.014 9 9 4 0.023 4 1 0 1 0 0.001 87595 chr1 74937082 74937082 A G rs3765673 LRRC53 Nonsynonymous SNV C742R 0.028 0.031 0.02 13 33 12 0.033 6 1 0 0 1 0.31 87596 chr1 74937828 74937828 C T rs3765675 LRRC53 Nonsynonymous SNV G493E 0.028 0.031 0.024 13 33 12 0.033 7 1 0 0 1 18.32 87597 chr1 74946373 74946373 C T rs41289204 LRRC53 Nonsynonymous SNV R123Q 0.029 0.031 0.02 15 34 12 0.038 6 0 0 0 1 12.72 87598 chr20 29960701 29960701 T C rs140456274 DEFB118 Nonsynonymous SNV C34R 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 23.7 87599 chr20 30510804 30510804 C T rs41293120 TTLL9 Synonymous SNV P91P 0.004 0.013 0.01 4 5 5 0.01 3 0 0 0 0 15.97 87600 chr1 55119802 55119802 C T rs202239855 MROH7 Synonymous SNV D401D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.775 87601 chr10 121677360 121677360 A G rs151179954 SEC23IP Synonymous SNV K519K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.067 87602 chr1 204378775 204378775 T C rs17855962 PPP1R15B Nonsynonymous SNV K589E 0.024 0.023 0.024 21 28 9 0.054 7 0 0 0 1 0.002 87603 chr1 204438113 204438113 G T rs61740701 PIK3C2B Nonsynonymous SNV P273H 0.006 0.013 0.003 9 7 5 0.023 1 0 0 0 0 Benign 24.8 87604 chr1 77629564 77629564 G A PIGK Nonsynonymous SNV A184V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 87605 chr20 10579398 10579398 C T rs140984471 SLX4IP Nonsynonymous SNV A105V 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 20.6 87606 chr1 36785414 36785414 C T SH3D21 Nonsynonymous SNV P273S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 2.879 87607 chr20 10622542 10622542 T C JAG1 0.006 0.01 0 0 7 4 0 0 0 0 0 0 25.8 87608 chr1 57209907 57209907 C A rs139281548 FYB2 Stop gain E474X 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 not provided 35 87609 chr1 3742943 3742943 T G rs533659013 CEP104 Nonsynonymous SNV Y749S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.876 87610 chr1 5935096 5935096 C T rs183885357 NPHP4 Nonsynonymous SNV R449H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 87611 chr20 13740424 13740424 T C rs775691786 ESF1 Synonymous SNV K581K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.63 87612 chr1 205884138 205884138 C T rs140760240 SLC26A9 Nonsynonymous SNV R849Q 0.02 0.016 0.031 10 23 6 0.026 9 1 0 1 0 6.783 87613 chr20 1457992 1457992 A T rs1044777807 SIRPB2 Nonsynonymous SNV S284T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 87614 chr1 85594430 85594430 C G rs140503763 WDR63 Nonsynonymous SNV T747R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.2 87615 chr1 40367497 40367497 C - MYCL A22Rfs*118 0.002 0 0 0 2 0 0 0 0 0 0 0 87616 chr1 207641950 207641950 C T rs75282758 CR2 Nonsynonymous SNV P175L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.75 87617 chr19 36106007 36106007 G A rs780365704 HAUS5 Nonsynonymous SNV D95N 0 0 0.007 0 0 0 0 2 0 0 0 0 16.11 87618 chr11 55761821 55761821 A G OR5F1 Nonsynonymous SNV F94S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 87619 chr1 40747155 40747155 A C rs201393732 ZMPSTE24 Nonsynonymous SNV N304H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.544 87620 chr1 208215445 208215445 C T rs146708658 PLXNA2 Synonymous SNV R1428R 0 0 0 3 0 0 0.008 0 0 0 0 0 13.24 87621 chr1 41232317 41232317 T C rs145482233 NFYC Nonsynonymous SNV V219A 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 87622 chr1 208390903 208390903 G T rs142871447 PLXNA2 Nonsynonymous SNV S122Y 0.026 0.034 0.031 12 31 13 0.031 9 0 0 0 0 Likely benign 23.4 87623 chr11 56127924 56127924 C G rs138236285 OR8J1 Nonsynonymous SNV L68V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 87624 chr20 36640269 36640269 C G TTI1 Nonsynonymous SNV M650I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.05 87625 chr1 6525148 6525148 C T TNFRSF25 Nonsynonymous SNV A99T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 87626 chr19 36674557 36674557 C T rs144460198 ZNF565 Nonsynonymous SNV S39N 0.001 0.003 0.017 0 1 1 0 5 0 0 0 0 2.338 87627 chr20 1961163 1961163 C A rs767807436 PDYN Nonsynonymous SNV G191W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.5 87628 chr1 43111851 43111851 C G rs758046840 CCDC30 Nonsynonymous SNV L646V 0.003 0 0 0 3 0 0 0 0 0 0 0 3.113 87629 chr1 43805106 43805106 C G rs121913610 MPL Nonsynonymous SNV Q186E 0.003 0 0 0 3 0 0 0 0 0 0 0 10.39 87630 chr1 89655795 89655795 C G rs41302774 GBP4 Nonsynonymous SNV E375Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 87631 chr1 89662813 89662813 C T rs145994853 GBP4 Nonsynonymous SNV R72H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.52 87632 chr20 20591968 20591968 T G rs199580194 RALGAPA2 Nonsynonymous SNV L597F 0 0.008 0 0 0 3 0 0 0 0 0 0 17.03 87633 chr20 20599985 20599985 C T rs6137081 RALGAPA2 Nonsynonymous SNV S492N 0.004 0.016 0.007 1 5 6 0.003 2 0 0 0 0 12.69 87634 chr20 23016692 23016692 G A rs200361546 SSTR4 Nonsynonymous SNV R191H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.043 87635 chr1 44437361 44437361 C T rs141223334 DPH2 Nonsynonymous SNV R128W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 87636 chr1 2160304 2160304 C G rs200019352 SKI Synonymous SNV G33G 0.009 0.003 0.014 1 11 1 0.003 4 0 0 0 0 Benign 8.825 87637 chr1 44438135 44438135 G T rs770120491 DPH2 Nonsynonymous SNV G237V 0.003 0 0 0 3 0 0 0 0 0 0 0 29.2 87638 chr19 38315089 38315089 G A rs117840276 LOC100631378 0 0 0.075 0 0 0 0 22 0 0 0 0 0.734 87639 chr20 37547022 37547022 A C rs61752055 PPP1R16B Nonsynonymous SNV K431Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.3 87640 chr20 39978452 39978452 C T rs141578154 LPIN3 Nonsynonymous SNV S227L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 34 87641 chr1 46080809 46080809 C G rs139279656 NASP Nonsynonymous SNV N533K 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 29.4 87642 chr19 38655469 38655469 A T SIPA1L3 Synonymous SNV R1377R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 87643 chr19 38876202 38876202 C T rs61742630 GGN Nonsynonymous SNV S567N 0.026 0.018 0.02 10 31 7 0.026 6 0 0 0 0 9.904 87644 chr19 38885397 38885397 C A rs142553701 SPRED3 Nonsynonymous SNV P180T 0.026 0.018 0.02 10 30 7 0.026 6 0 0 0 0 11.9 87645 chr1 9305248 9305248 C T rs138775586 H6PD Synonymous SNV S96S 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Benign 14.19 87646 chr20 43355772 43355772 C A rs149467110 CCN5 Nonsynonymous SNV P193T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 87647 chr1 75199023 75199023 A C rs143670067 TYW3 Nonsynonymous SNV E32A 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 16.37 87648 chr1 220154129 220154129 G A rs756471868 EPRS1 Nonsynonymous SNV A1175V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 87649 chr20 43379325 43379325 C T rs561351982 KCNK15 Nonsynonymous SNV P280L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.05 87650 chr20 25507208 25507208 T C rs147665467 NINL Nonsynonymous SNV N6D 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 0.214 87651 chr1 22211074 22211074 C T rs138259006 HSPG2 Nonsynonymous SNV R535H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 20.8 87652 chr1 220928313 220928313 T C rs12044903 MTARC2 Synonymous SNV D99D 0.012 0.01 0.01 3 14 4 0.008 3 0 0 0 0 6.962 87653 chr1 220928334 220928334 A G rs12048193 MTARC2 Synonymous SNV R106R 0.012 0.01 0.01 3 14 4 0.008 3 0 0 0 0 7.993 87654 chr1 220928376 220928376 T C rs371348 MTARC2 Synonymous SNV N120N 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 0.053 87655 chr1 220936372 220936372 G A rs3795535 MTARC2 Nonsynonymous SNV G244S 0.012 0.01 0.01 3 14 4 0.008 3 0 0 0 0 34 87656 chr1 220955168 220955168 A G rs12030434 MTARC2 Synonymous SNV P311P 0.012 0.01 0.017 3 14 4 0.008 5 0 0 0 0 0.018 87657 chr20 43836237 43836237 T A rs61729393 SEMG1 Nonsynonymous SNV L100Q 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 19.6 87658 chr20 43837053 43837053 G T rs2233887 SEMG1 Nonsynonymous SNV R372L 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 5.729 87659 chr19 3959107 3959107 G A rs750542163 DAPK3 Synonymous SNV L453L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.955 87660 chr20 43851101 43851101 T C rs2233902 SEMG2 Synonymous SNV D276D 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 0.011 87661 chr1 22211623 22211623 C T rs140621959 HSPG2 Nonsynonymous SNV R413Q 0.012 0 0.003 5 14 0 0.013 1 0 0 0 0 Benign/Likely benign 13.68 87662 chr20 43933199 43933199 C T rs140607730 MATN4 Synonymous SNV L104L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.593 87663 chr20 43938284 43938284 G A rs35032855 RBPJL Nonsynonymous SNV R70Q 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 Benign 23.4 87664 chr1 2235513 2235513 G A rs114345135 SKI Synonymous SNV A482A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 10.1 87665 chr20 43940531 43940542 CAGCGCGTCCGG - rs142744285 RBPJL S130_A133del 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 87666 chr1 223566859 223566859 T C rs111306873 CCDC185 Synonymous SNV D14D 0.034 0.049 0.02 20 40 19 0.051 6 0 1 0 0 0.43 87667 chr1 223566876 223566876 G A rs75945379 CCDC185 Nonsynonymous SNV R20Q 0.037 0.052 0.024 22 43 20 0.056 7 0 1 0 0 8.212 87668 chr20 43945377 43945377 C A rs35220957 RBPJL Nonsynonymous SNV S443R 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 Benign 23.8 87669 chr20 43945487 43945487 T C rs34078698 RBPJL Nonsynonymous SNV V480A 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 Benign 0.061 87670 chr20 31606869 31606869 G T rs61734342 BPIFB2 Nonsynonymous SNV R286M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.9 87671 chr1 49201984 49201984 G A rs114450193 BEND5 Synonymous SNV G176G 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 14.75 87672 chr1 223567808 223567808 C T rs6682552 CCDC185 Nonsynonymous SNV R331W 0.037 0.052 0.034 21 43 20 0.054 10 0 1 0 0 25.7 87673 chr1 981195 981195 T C rs779599910 AGRN Synonymous SNV A873A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.067 87674 chr1 222904760 222904760 G A rs375089146 BROX Nonsynonymous SNV V319I 0 0 0 4 0 0 0.01 0 0 0 0 0 24.1 87675 chr1 52729452 52729452 G T ZFYVE9 Nonsynonymous SNV C729F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 87676 chr1 225373076 225373076 A G rs781089831 DNAH14 Synonymous SNV L1873L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.227 87677 chr1 85736384 85736384 C T rs147850504 BCL10 Nonsynonymous SNV R88Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 26.6 87678 chr20 45358092 45358092 G A rs117587497 SLC2A10 Synonymous SNV S504S 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 12.11 87679 chr20 45771754 45771754 T C EYA2 Synonymous SNV L315L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.207 87680 chr20 33582123 33582123 C T rs201923299 MYH7B Synonymous SNV A915A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.64 87681 chr20 47989624 47989624 G A rs34467662 KCNB1 Nonsynonymous SNV P825S 0.017 0.01 0.014 2 20 4 0.005 4 0 0 0 0 Benign 9.38 87682 chr11 57114074 57114074 C T rs140615250 P2RX3 Nonsynonymous SNV S59L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 87683 chr1 226567723 226567723 C G rs201371549 PARP1 Nonsynonymous SNV W481C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 87684 chr1 228033258 228033258 T A rs61741607 PRSS38 Nonsynonymous SNV I224N 0.018 0.018 0.024 4 21 7 0.01 7 0 0 0 0 24 87685 chr20 49508776 49508776 C A rs148502910 ADNP Synonymous SNV G825G 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Benign 14.09 87686 chr19 42910455 42910455 G A rs141921519 LIPE Synonymous SNV Y741Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.396 87687 chr20 50307296 50307296 G A rs45470394 ATP9A Synonymous SNV F235F 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 14.35 87688 chr1 228404305 228404305 G A rs180689095 OBSCN Nonsynonymous SNV R760Q 0.014 0.021 0 6 16 8 0.015 0 0 0 0 0 0.876 87689 chr1 905940 905940 C G rs199698680 PLEKHN1 Nonsynonymous SNV L124V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 87690 chr1 9074794 9074794 C T rs147603199 SLC2A7 Synonymous SNV Q283Q 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 8.55 87691 chr20 5099430 5099430 C T rs757200275 PCNA Nonsynonymous SNV V102I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.53 87692 chr19 44153248 44153248 T C rs138492321 PLAUR Nonsynonymous SNV M223V 0.005 0.003 0.014 4 6 1 0.01 4 0 0 0 0 Likely benign 22.8 87693 chr1 228467095 228467095 T C rs200720682 OBSCN Nonsynonymous SNV V2449A 0.012 0.018 0.003 6 14 7 0.015 1 0 0 0 0 Likely benign 22.2 87694 chr19 44377438 44377438 G A rs751943333 ZNF404 Nonsynonymous SNV R307C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 87695 chr19 44470679 44470679 C T rs56023723 ZNF221 Nonsynonymous SNV T342I 0.011 0.01 0.017 4 13 4 0.01 5 0 1 0 0 0.008 87696 chr20 23473691 23473691 A G rs200703356 CST8 Nonsynonymous SNV N110D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 87697 chr1 228548175 228548175 G A rs545633368 OBSCN Nonsynonymous SNV G6528S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.471 87698 chr1 94140470 94140470 A T rs151322895 BCAR3 Nonsynonymous SNV F6Y 0.007 0 0 5 8 0 0.013 0 0 0 0 0 27.2 87699 chr1 22921732 22921732 A G rs893984706 EPHA8 Nonsynonymous SNV Y538C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.4 87700 chr1 97235350 97235350 A G rs147916074 PTBP2 Synonymous SNV E17E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.162 87701 chr20 58342349 58342349 C T rs73598372 PHACTR3 Nonsynonymous SNV P214L 0.013 0.013 0.027 2 15 5 0.005 8 0 0 1 0 27.5 87702 chr1 230915993 230915993 A G rs142155278 CAPN9 Nonsynonymous SNV S332G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.3 87703 chr20 2845039 2845039 C T rs34653198 VPS16 Synonymous SNV N439N 0.015 0.013 0.034 5 18 5 0.013 10 1 0 0 0 9.74 87704 chr1 231473476 231473476 - CATCGC rs373986810 EXOC8 M5_S6insAM 0 0 0 1 0 0 0.003 0 0 0 0 0 87705 chr1 234744945 234744945 - GCT rs371994015 IRF2BP2 Q98_L99insQ 0.014 0.01 0.014 6 16 4 0.015 4 0 0 0 1 87706 chr20 47858655 47858655 G A DDX27 Synonymous SNV A707A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.08 87707 chr20 3146964 3146964 C T rs199520706 LZTS3 Nonsynonymous SNV V168I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 87708 chr1 233394612 233394612 C A PCNX2 Nonsynonymous SNV Q332H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.611 87709 chr1 233394706 233394706 C T PCNX2 Nonsynonymous SNV S301N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.836 87710 chr20 60903446 60903446 C T rs200643051 LAMA5 Synonymous SNV P1501P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.826 87711 chr19 45207413 45207413 G A rs200297676 CEACAM16 Nonsynonymous SNV A170T 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Benign/Likely benign 0.987 87712 chr20 49508683 49508683 G A rs1062651 ADNP Synonymous SNV V856V 0.02 0.016 0.024 4 23 6 0.01 7 0 0 0 0 Benign 0.198 87713 chr19 45368805 45368805 C T rs34929997 NECTIN2 Synonymous SNV D122D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.81 87714 chr20 49509175 49509175 C T rs6096168 ADNP Synonymous SNV K692K 0.017 0.016 0.02 4 20 6 0.01 6 0 0 0 0 Benign 9.748 87715 chr20 50230354 50230354 C T rs1005308262 ATP9A Synonymous SNV S811S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.38 87716 chr19 45452694 45452694 - T rs150448996 APOC4-APOC2 0 0 0.014 0 0 0 0 4 0 0 2 0 87717 chr20 5086936 5086936 C T rs763383477 TMEM230 Synonymous SNV K40K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.73 87718 chr20 61443871 61443871 C T rs77478162 OGFR Nonsynonymous SNV H302Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.035 87719 chr1 82416040 82416040 C T rs112681863 ADGRL2 Nonsynonymous SNV P456S 0.012 0.01 0.003 2 14 4 0.005 1 0 0 0 0 23.3 87720 chr1 8390279 8390279 A C rs144740978 SLC45A1 Synonymous SNV G242G 0.003 0 0 0 4 0 0 0 0 0 0 0 0.716 87721 chr1 241798615 241798615 C T rs200195721 CHML Nonsynonymous SNV E152K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 87722 chr19 46270119 46270119 A T rs961723919 SIX5 Synonymous SNV G366G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 87723 chr1 85655909 85655909 G A rs750124919 SYDE2 Synonymous SNV C424C 0.003 0 0 0 3 0 0 0 0 0 0 0 0.168 87724 chr20 62200587 62200587 C T rs149852356 HELZ2 Synonymous SNV S334S 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 11.71 87725 chr20 62222060 62222060 C T rs140146884 GMEB2 Synonymous SNV E325E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 11.47 87726 chr20 57269591 57269591 C T rs150728676 NPEPL1 Synonymous SNV T150T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.594 87727 chr1 89662902 89662902 T C rs371006636 GBP4 Synonymous SNV A42A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.415 87728 chr20 5933119 5933119 G A rs151282193 MCM8 Synonymous SNV Q66Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.906 87729 chr20 3731529 3731529 C A rs148249749 HSPA12B Synonymous SNV T374T 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 20.9 87730 chr19 48305639 48305650 GGGCCTGGGATC - rs781226540 TPRX1 P208_I211del 0 0 0.037 0 0 0 0 11 0 0 1 0 87731 chr20 60708357 60708357 C T LSM14B Nonsynonymous SNV T333M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 87732 chr20 21327163 21327163 G C rs150230004 XRN2 Nonsynonymous SNV C625S 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 27.9 87733 chr20 39990371 39990371 A G rs11557909 EMILIN3 Nonsynonymous SNV L613S 0.006 0.005 0.027 3 7 2 0.008 8 0 0 0 0 0.002 87734 chr20 21695347 21695347 C T rs17861061 PAX1 Nonsynonymous SNV P504L 0.018 0.021 0.027 3 21 8 0.008 8 0 0 0 0 0.025 87735 chr21 15599536 15599536 T C rs199585615 RBM11 Synonymous SNV S263S 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 9.854 87736 chr20 23424608 23424608 T C rs139583699 CSTL1 Nonsynonymous SNV I86T 0.007 0.008 0.014 0 8 3 0 4 0 0 0 0 23.5 87737 chr1 247615148 247615148 T C rs112807572 OR2B11 Nonsynonymous SNV N46S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 20.2 87738 chr1 9324814 9324816 CAC - rs770999374 H6PD T767del 0.003 0 0 0 3 0 0 0 0 0 0 0 87739 chr19 49392867 49392867 C G rs147078776 TULP2 Nonsynonymous SNV S179T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.495 87740 chr20 44422600 44422600 G A rs139834669 DNTTIP1 Nonsynonymous SNV V73I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 87741 chr20 44520240 44520240 - CTG CTSA L19_V20insL 0.001 0.005 0 0 1 2 0 0 0 0 0 0 87742 chr20 2841151 2841151 C T rs140280990 VPS16 Synonymous SNV S142S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.575 87743 chr11 68549390 68549390 G A rs754110528 CPT1A Nonsynonymous SNV R401C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 87744 chr1 970683 970683 G A rs756975268 AGRN Nonsynonymous SNV V164M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.15 87745 chr20 30409275 30409275 C T rs374538348 MYLK2 Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.1 87746 chr20 45130454 45130454 C T rs76102746 ZNF334 Synonymous SNV K470K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.177 87747 chr20 45194971 45194971 G A SLC13A3 Nonsynonymous SNV P414L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 87748 chr20 31395577 31395577 C T rs776808076 DNMT3B Synonymous SNV G651G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.63 87749 chr21 34927291 34927291 T C rs150122403 SON Synonymous SNV V1918V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 1.282 87750 chr11 71196642 71196642 C T NADSYN1 Nonsynonymous SNV R504W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 87751 chr20 49212029 49212029 G A rs367600299 RIPOR3 Nonsynonymous SNV P643S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.79 87752 chr11 73997310 73997310 T C rs148426172 P4HA3 Nonsynonymous SNV D299G 0.006 0.013 0.017 4 7 5 0.01 5 0 0 0 0 17.92 87753 chr20 77013 77013 C T rs45528036 DEFB125 Synonymous SNV S142S 0.014 0.008 0.01 6 17 3 0.015 3 0 0 0 0 10.21 87754 chr21 41496225 41496225 G A rs772047754 DSCAM Nonsynonymous SNV A1198V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.62 87755 chr19 52097261 52097261 C G rs58301181 LINC01530 0 0 0.133 0 0 0 0 39 0 0 4 0 6.535 87756 chr20 36022364 36022364 C T rs369569974 SRC Synonymous SNV Y139Y 0.003 0 0 0 3 0 0 0 0 0 0 0 14.97 87757 chr19 52097560 52097560 - A rs141848717 LINC01530 0 0 0.112 0 0 0 0 33 0 0 3 0 87758 chr21 19666607 19666607 G A rs138776442 TMPRSS15 Synonymous SNV S822S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.41 87759 chr21 43161928 43161928 C T rs56092943 RIPK4 Synonymous SNV L475L 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 Uncertain significance 3.004 87760 chr1 25944791 25944791 A G MAN1C1 Nonsynonymous SNV Q168R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.46 87761 chr19 52618484 52618484 G A rs145074631 ZNF616 Nonsynonymous SNV R645C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 87762 chr1 26510317 26510317 C G rs149069703 CNKSR1 Nonsynonymous SNV P291R 0.01 0.005 0 5 12 2 0.013 0 0 0 0 0 Benign 0.004 87763 chr20 19867384 19867384 C T rs183028833 RIN2 Nonsynonymous SNV P24L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.18 87764 chr11 78381008 78381008 A G TENM4 Nonsynonymous SNV Y2128H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 87765 chr21 37747528 37747528 T C rs182114550 MORC3 Synonymous SNV D847D 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 0.17 87766 chr20 45131155 45131155 G A rs41283032 ZNF334 Nonsynonymous SNV R237C 0.009 0.016 0.007 1 11 6 0.003 2 0 0 0 0 9.27 87767 chr20 46264199 46264199 G A rs761801652 NCOA3 Nonsynonymous SNV A416T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 87768 chr20 4713339 4713339 G A rs75337428 PRNT 0.037 0.029 0.041 12 43 11 0.031 12 0 0 0 0 0.264 87769 chr19 53848781 53848781 T C rs752635100 ZNF845 Nonsynonymous SNV V13A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 87770 chr1 34023464 34023464 G A rs202192742 CSMD2 Synonymous SNV S2871S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.13 87771 chr20 31547686 31547686 G T rs559588097 EFCAB8 Nonsynonymous SNV W1064C 0.003 0 0 0 3 0 0 0 0 0 0 0 20.1 87772 chr1 33772796 33772796 - A rs775404820 A3GALT2 Frameshift insertion M198Ifs*56 0.001 0 0 3 1 0 0.008 0 0 0 0 0 87773 chr1 3428136 3428136 G A rs367990202 MEGF6 Synonymous SNV D364D 0.007 0 0 3 8 0 0.008 0 0 0 0 0 0.517 87774 chr20 62153168 62153168 G C rs749515713 PPDPF Nonsynonymous SNV R94P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.004 87775 chr1 33832933 33832933 G A rs10914692 PHC2 Nonsynonymous SNV P225S 0.053 0.031 0.075 25 62 12 0.064 22 1 0 1 0 11.07 87776 chr21 42866422 42866422 G A rs199824558 TMPRSS2 Synonymous SNV V70V 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Benign 0.931 87777 chr20 48894793 48894793 T C rs185550166 SMIM25 Nonsynonymous SNV L90P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.634 87778 chr11 7960298 7960298 A T rs144884963 OR10A3 Nonsynonymous SNV M257K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 87779 chr1 36358700 36358700 C T rs1037229267 AGO1 Synonymous SNV V36V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.85 87780 chr21 43256629 43256629 G A rs73219067 PRDM15 Synonymous SNV C414C 0.012 0.016 0.007 0 14 6 0 2 0 0 0 0 9.984 87781 chr19 55054969 55054969 - C rs200380713 KIR3DX1 0 0 0.024 0 0 0 0 7 0 0 2 0 87782 chr19 55054977 55054977 T C rs535844922 KIR3DX1 0 0 0.01 0 0 0 0 3 0 0 1 0 0.624 87783 chr21 43519262 43519262 C T rs376462517 UMODL1 Synonymous SNV D386D 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 8.945 87784 chr19 55221935 55221935 G A rs45588833 LILRP2 0 0 0.082 0 0 0 0 24 0 0 1 0 0.083 87785 chr1 36031117 36031117 C T rs55743884 NCDN Synonymous SNV P664P 0.009 0.01 0.007 5 10 4 0.013 2 0 0 0 0 14.46 87786 chr11 8752313 8752318 CGGCGA - rs777563076 DENND2B R174_R175del 0.005 0.01 0 0 6 4 0 0 0 0 0 0 87787 chr20 33342661 33342661 T C rs186486306 NCOA6 Synonymous SNV K513K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.422 87788 chr20 62325833 62325833 C A rs115610405 RTEL1 Nonsynonymous SNV P811H 0.013 0.005 0.007 4 15 2 0.01 2 0 0 0 0 Benign 16.95 87789 chr11 105795460 105795460 T G rs115601281 GRIA4 Synonymous SNV G604G 0.003 0 0.003 0 3 0 0 1 1 0 0 0 6.986 87790 chr21 43783380 43783380 G A rs61735845 TFF1 Synonymous SNV I74I 0.009 0.013 0.003 1 11 5 0.003 1 0 0 0 0 9.002 87791 chr1 3701683 3701683 G A LRRC47 Synonymous SNV L388L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.364 87792 chr11 9595772 9595772 G A rs201792218 WEE1 Nonsynonymous SNV A98T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.4 87793 chr11 108060001 108060001 T C rs187990506 NPAT Nonsynonymous SNV T130A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.009 87794 chr20 3543044 3543044 C G ATRN Nonsynonymous SNV F407L 0.008 0.005 0 0 9 2 0 0 0 0 0 0 11.19 87795 chr11 108380312 108380312 T C rs56194394 EXPH5 Synonymous SNV T1786T 0.014 0.013 0.017 9 16 5 0.023 5 0 0 0 0 3.752 87796 chr1 38079945 38079945 T A RSPO1 Nonsynonymous SNV E116V 0 0 0 2 0 0 0.005 0 0 0 0 0 21.8 87797 chr1 39844913 39844913 T C MACF1 Synonymous SNV L2377L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 1.734 87798 chr11 110454453 110454453 T G ARHGAP20 Nonsynonymous SNV D452A 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 87799 chr21 45079557 45079557 C T rs200774372 RRP1B Synonymous SNV A4A 0.014 0.018 0.01 11 16 7 0.028 3 0 0 0 0 16.95 87800 chr22 20077205 20077205 A G rs762589425 DGCR8 Synonymous SNV P298P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.18 87801 chr22 20230424 20230424 G A rs771911799 RTN4R Nonsynonymous SNV R78C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 87802 chr11 11951046 11951046 T C rs190706361 USP47 Synonymous SNV Y310Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.077 87803 chr21 45209559 45209559 C T rs78489660 RRP1 Synonymous SNV L17L 0.065 0.07 0.058 24 76 27 0.062 17 2 1 1 0 12.22 87804 chr21 45389034 45389034 C T rs61737069 AGPAT3 Synonymous SNV Y128Y 0.037 0.044 0.024 14 44 17 0.036 7 3 0 0 0 13.53 87805 chr1 40773119 40773119 G A rs150075912 COL9A2 Nonsynonymous SNV A336V 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 87806 chr11 113266863 113266863 T C rs201098042 ANKK1 Nonsynonymous SNV W253R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.009 87807 chr20 60892077 60892077 A C rs199776859 LAMA5 Nonsynonymous SNV I2505S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 87808 chr21 45876767 45876767 G A rs145313990 LRRC3 Synonymous SNV P80P 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 1.056 87809 chr11 17432082 17432082 T C ABCC8 Nonsynonymous SNV Y892C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 87810 chr22 23237695 23237695 C T IGLL5 Nonsynonymous SNV P81S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 87811 chr21 30970005 30970005 C G rs363465 GRIK1-AS2 0.009 0.01 0.017 3 11 4 0.008 5 0 0 0 0 8.365 87812 chr21 46875526 46875526 C G COL18A1 Nonsynonymous SNV L28V 0.008 0.003 0 0 9 1 0 0 0 0 0 0 15.45 87813 chr11 117089251 117089251 C T rs375277787 PCSK7 Nonsynonymous SNV V489I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.46 87814 chr20 61453149 61453149 T C rs147947060 COL9A3 Nonsynonymous SNV L137P 0.007 0.008 0 0 8 3 0 0 0 0 0 0 Benign/Likely benign 20.7 87815 chr21 47574107 47574107 G A rs747264496 FTCD Nonsynonymous SNV A65V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.8 87816 chr20 61879074 61879074 C T rs11906010 NKAIN4 Synonymous SNV E47E 0.041 0.036 0.024 9 48 14 0.023 7 1 1 0 0 9.214 87817 chr21 47588419 47588419 G A rs765041623 SPATC1L Nonsynonymous SNV A116V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 87818 chr22 28378998 28378998 G A rs17482652 TTC28 Synonymous SNV L2219L 0.023 0.042 0.031 7 27 16 0.018 9 0 1 0 0 9.723 87819 chr22 28379016 28379016 C T rs189781469 TTC28 Synonymous SNV A2213A 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 Likely benign 13.06 87820 chr22 28394985 28394985 C T rs75173815 TTC28 Synonymous SNV S1554S 0.023 0.042 0.031 7 27 16 0.018 9 0 1 0 0 14.06 87821 chr21 34166310 34166311 GA - C21orf62 L141Hfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 87822 chr21 34166314 34166314 - CTCATCCAG C21orf62 Stop gain L140_Y219delinsSG 0 0.003 0 0 0 1 0 0 0 0 0 0 87823 chr22 28426321 28426321 C T rs17483998 TTC28 Synonymous SNV A1322A 0.023 0.042 0.031 7 27 16 0.018 9 0 1 0 0 15.28 87824 chr21 34443152 34443152 C T OLIG1 Synonymous SNV S200S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 87825 chr20 44469533 44469533 C T rs61753670 SNX21 Synonymous SNV L235L 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 11.06 87826 chr11 119002338 119002338 G T rs544586587 HINFP Nonsynonymous SNV V169L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.43 87827 chr22 29957616 29957616 C G NIPSNAP1 Nonsynonymous SNV R133T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 87828 chr11 119044762 119044762 A C NLRX1 Synonymous SNV P268P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.002 87829 chr1 46034879 46034879 G T rs61757676 AKR1A1 Nonsynonymous SNV R297I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 34 87830 chr19 57838058 57838058 G A rs150392165 ZNF543 Stop gain W68X 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 Likely benign 25 87831 chr1 47717188 47717188 C T rs145089798 STIL Nonsynonymous SNV E1163K 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 4.967 87832 chr21 37602959 37602959 C T rs762995201 DOP1B Nonsynonymous SNV T626M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 87833 chr21 37618355 37618355 G A rs113948206 DOP1B Synonymous SNV L1359L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.343 87834 chr20 47865924 47865924 T C rs78573470 ZNFX1 Nonsynonymous SNV I1213V 0.011 0.003 0.003 12 13 1 0.031 1 0 0 0 1 Benign 11.88 87835 chr11 32610567 32610567 C T EIF3M Synonymous SNV N108N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.95 87836 chr22 32109713 32109713 T C rs559005586 PRR14L Nonsynonymous SNV N1371S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.016 87837 chr20 52193542 52193542 C T rs61748380 ZNF217 Synonymous SNV L587L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 14.22 87838 chr22 36688274 36688274 C T MYH9 Nonsynonymous SNV D1368N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 87839 chr22 36900774 36900774 C A rs61730824 FOXRED2 Nonsynonymous SNV Q189H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.63 87840 chr19 621703 621703 G A rs373851502 POLRMT Synonymous SNV L665L 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.462 87841 chr19 6468316 6468316 C T rs370048173 DENND1C Nonsynonymous SNV A530T 0 0 0.007 0 0 0 0 2 0 0 0 0 9.255 87842 chr1 55317976 55317976 C T rs1044689480 DHCR24 Nonsynonymous SNV R494Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 87843 chr21 43795897 43795897 G A rs56178910 TMPRSS3 Synonymous SNV C298C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.999 87844 chr22 37962646 37962646 G A rs139353065 CDC42EP1 Nonsynonymous SNV R97Q 0.014 0.008 0.003 5 17 3 0.013 1 0 0 0 0 28.1 87845 chr22 37962740 37962740 C T rs111307192 CDC42EP1 Synonymous SNV A128A 0.014 0.01 0.003 5 17 4 0.013 1 0 0 0 0 17.58 87846 chr22 37964376 37964396 CTGCAAACCCCCCAGCCACTA - rs755568564 CDC42EP1 T248_A254del 0.013 0.008 0.003 5 15 3 0.013 1 0 0 0 0 87847 chr22 38038644 38038644 C T rs78875083 LOC101927051 0.004 0.005 0.007 5 5 2 0.013 2 0 0 0 0 10.87 87848 chr22 38039746 38039746 C T rs149928566 SH3BP1 Nonsynonymous SNV T190M 0.018 0.021 0.007 10 21 8 0.026 2 0 0 0 0 19.21 87849 chr1 55152041 55152041 C T rs533437381 MROH7 Synonymous SNV I395I 0 0 0 2 0 0 0.005 0 0 0 0 0 14.42 87850 chr19 7006337 7006337 C T rs10414215 FLJ25758 0 0 0.156 0 0 0 0 46 0 0 23 0 3.954 87851 chr21 30961186 30961186 G A rs2229899 GRIK1 Synonymous SNV N357N 0.01 0.003 0.007 3 12 1 0.008 2 0 0 0 0 10.46 87852 chr22 38121652 38121652 C G rs193043234 TRIOBP Nonsynonymous SNV P1030R 0.006 0.008 0.01 5 7 3 0.013 3 1 0 0 0 Benign 24.5 87853 chr20 5903279 5903279 G A rs747146728 CHGB Synonymous SNV E163E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.957 87854 chr21 45194586 45194586 C T rs143153487 CSTB Nonsynonymous SNV V41M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.45 87855 chr1 6111702 6111702 C T KCNAB2 Nonsynonymous SNV R36W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 87856 chr22 39135380 39135380 T C rs751392512 SUN2 Nonsynonymous SNV I565V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.4 87857 chr21 35237585 35237585 G T ITSN1 Nonsynonymous SNV A1336S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.5 87858 chr19 828365 828365 C T rs746878090 AZU1 Nonsynonymous SNV A65V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 87859 chr22 40059828 40059828 G C rs58500586 CACNA1I Nonsynonymous SNV Q1158H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.7 87860 chr22 41545941 41545941 G T EP300 Nonsynonymous SNV Q826H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 87861 chr11 118307316 118307316 C G rs9332745 KMT2A Nonsynonymous SNV A30G 0.004 0.008 0.014 3 5 3 0.008 4 0 0 0 1 Benign/Likely benign 19.03 87862 chr22 29627608 29627608 G A rs573279440 EMID1 Nonsynonymous SNV G203R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 25.3 87863 chr1 6705944 6705944 C T rs12137794 DNAJC11 Nonsynonymous SNV V267M 0.042 0.055 0.034 26 49 21 0.067 10 1 1 0 1 21.7 87864 chr20 61917433 61917433 G A rs201170348 ARFGAP1 Synonymous SNV T312T 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 1.199 87865 chr22 43089658 43089658 C G rs28915381 A4GALT Synonymous SNV S100S 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 1 Benign 6.703 87866 chr22 43284772 43284772 C T rs754284663 PACSIN2 Synonymous SNV A121A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.87 87867 chr1 6528085 6528085 G A PLEKHG5 Synonymous SNV S937S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 3.506 87868 chr22 17447138 17447138 C A GAB4 Nonsynonymous SNV Q227H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.882 87869 chr22 30775605 30775605 C T RNF215 Nonsynonymous SNV R373H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.95 87870 chr19 8999509 8999509 C T rs756428204 MUC16 Nonsynonymous SNV D13556N 0.003 0.003 0.048 0 4 1 0 14 0 0 0 0 20.6 87871 chr22 44083363 44083363 G C rs750073983 EFCAB6 Nonsynonymous SNV T225R 0 0.008 0 0 0 3 0 0 0 0 0 0 0.009 87872 chr22 18021911 18021911 C T rs767919607 CECR2 Synonymous SNV C530C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.165 87873 chr22 30891412 30891412 G A rs8138701 SEC14L4 Synonymous SNV D84D 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 0.258 87874 chr1 75055552 75055552 G C rs147867982 ERICH3 Nonsynonymous SNV Q647E 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 4.892 87875 chr22 30975861 30975861 C T rs34123894 PES1 Nonsynonymous SNV A406T 0.015 0.013 0.017 6 18 5 0.015 5 0 0 0 0 23 87876 chr22 19363261 19363261 C T rs376295771 HIRA Synonymous SNV P556P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.8 87877 chr1 70654919 70654919 A G rs4650030 LRRC40 Synonymous SNV P63P 0.007 0.026 0.003 8 8 10 0.021 1 0 0 0 0 7.131 87878 chr20 854973 854973 T G rs62641668 ANGPT4 Synonymous SNV S435S 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 Benign 0.334 87879 chr20 858841 858841 C T rs869171 ANGPT4 Nonsynonymous SNV E395K 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 23.2 87880 chr22 21152916 21152916 G A rs61752246 PI4KA Synonymous SNV S666S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.21 87881 chr11 55579068 55579068 C T rs575553149 OR5L1 Synonymous SNV N42N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.039 87882 chr19 9061351 9061351 T C rs112387091 MUC16 Nonsynonymous SNV M8699V 0 0 0.01 1 0 0 0.003 3 0 0 0 0 0.007 87883 chr1 78098306 78098306 G A rs766855556 ZZZ3 Nonsynonymous SNV T245M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.56 87884 chr12 6103281 6103281 A T rs11537642 VWF Synonymous SNV T2115T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.009 87885 chr12 6155950 6155950 C T rs2228317 VWF Nonsynonymous SNV M740I 0.001 0 0.01 0 1 0 0 3 0 0 1 0 Benign/Likely benign 6.958 87886 chr12 6464581 6464581 C T rs11542844 SCNN1A Nonsynonymous SNV A393T 0.02 0.023 0.034 12 24 9 0.031 10 1 0 1 0 Benign 16.88 87887 chr1 84372060 84372060 G A rs41301084 TTLL7 Synonymous SNV I666I 0.011 0.005 0.014 4 13 2 0.01 4 0 0 0 0 10.37 87888 chr21 45750355 45750355 C T rs142932867 CFAP410 Synonymous SNV P330P 0.014 0.01 0.007 3 16 4 0.008 2 0 0 0 0 7.495 87889 chr21 45751822 45751822 G A rs2277809 CFAP410 Nonsynonymous SNV T150I 0.033 0.029 0.017 12 39 11 0.031 5 0 0 0 0 Benign 1.713 87890 chr22 24628908 24628908 G A rs117249571 GGT5 Nonsynonymous SNV A128V 0.011 0.01 0.01 8 13 4 0.021 3 0 0 0 0 23 87891 chr21 45819296 45819296 T C rs143988815 TRPM2 Nonsynonymous SNV M727T 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 22.9 87892 chr22 50695379 50695379 G A rs144750295 MAPK12 Synonymous SNV A147A 0 0.005 0.01 0 0 2 0 3 0 0 0 0 8.665 87893 chr19 9087392 9087392 C T rs113573497 MUC16 Nonsynonymous SNV D1475N 0 0 0.01 1 0 0 0.003 3 0 0 0 0 8.61 87894 chr1 899318 899318 C T rs752647951 KLHL17 Synonymous SNV P458P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.857 87895 chr19 9203994 9203994 C T rs61738474 OR1M1 Nonsynonymous SNV T25M 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 11 87896 chr1 90399665 90399665 G C rs149624671 LRRC8D Synonymous SNV L346L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.263 87897 chr19 9213972 9213972 T C rs115192981 OR7G2 Nonsynonymous SNV Q4R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.001 87898 chr22 50921162 50921162 C T rs764735248 ADM2 Stop gain R93X 0.005 0.008 0 0 6 3 0 0 0 0 0 0 35 87899 chr19 9236888 9236888 C T rs61730396 OR7G3 Nonsynonymous SNV V247I 0.003 0 0.014 1 4 0 0.003 4 0 0 0 0 16.95 87900 chr22 26243474 26243474 C T rs117048307 MYO18B Synonymous SNV S1211S 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 9.697 87901 chr19 9236969 9236969 G A rs61751875 OR7G3 Stop gain R220X 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 35 87902 chr19 9237436 9237436 G A rs61745558 OR7G3 Nonsynonymous SNV S64F 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 22.9 87903 chr19 9237519 9237519 C T rs114119470 OR7G3 Synonymous SNV L36L 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 11.4 87904 chr19 9237622 9237622 T C rs115923170 OR7G3 Nonsynonymous SNV K2R 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 6.933 87905 chr19 9271953 9271953 C A ZNF317 Nonsynonymous SNV N512K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 87906 chr22 39414042 39414042 A C rs202215677 APOBEC3C Nonsynonymous SNV D149A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.214 87907 chr1 93651954 93651954 A C rs771766725 CCDC18 Nonsynonymous SNV K119T 0.003 0 0 0 4 0 0 0 0 0 0 0 26.3 87908 chr19 994248 994248 G A rs200235925 WDR18 Nonsynonymous SNV V402M 0 0 0.01 0 0 0 0 3 0 0 0 0 14.02 87909 chr1 93657664 93657664 G A rs375442887 CCDC18 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.5 87910 chr22 39621804 39621804 C T rs769275399 PDGFB Nonsynonymous SNV R217Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 87911 chr1 95699787 95699787 A G rs553648657 RWDD3 Star tloss M1? 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 10.19 87912 chr21 42749853 42749853 G A rs140078849 MX2 Synonymous SNV S129S 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 11.61 87913 chr1 10699066 10699066 G C rs184511437 CASZ1 Nonsynonymous SNV P1738R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 87914 chr1 10699141 10699146 TCGTCG - rs201089181 CASZ1 D1711_D1712del 0 0 0.003 0 0 0 0 1 0 0 0 0 87915 chr1 10725193 10725193 G A rs116460699 CASZ1 Nonsynonymous SNV S151L 0.01 0.005 0.02 3 12 2 0.008 6 0 0 0 0 16.5 87916 chr1 109255574 109255574 A T rs770760027 FNDC7 Nonsynonymous SNV T7S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.952 87917 chr1 109270469 109270469 C T FNDC7 Nonsynonymous SNV S384F 0 0 0.007 0 0 0 0 2 0 0 0 0 32 87918 chr22 18609321 18609321 C T rs746117594 TUBA8 Synonymous SNV H126H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.763 87919 chr12 11091206 11091206 G A rs35804287 TAS2R14 Nonsynonymous SNV L201F 0.006 0.005 0.017 2 7 2 0.005 5 0 0 1 0 20.2 87920 chr1 109815537 109815537 - GAGGAGGAAGAA rs773722162 CELSR2 E2752_A2753insEEEE 0 0 0.003 0 0 0 0 1 0 0 0 0 87921 chr22 19137658 19137658 G A rs34341950 GSC2 Nonsynonymous SNV R47C 0.061 0.078 0 32 72 30 0.082 0 17 9 0 9 15.68 87922 chr1 110168343 110168343 C T rs747871730 AMPD2 Synonymous SNV P73P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 87923 chr20 17208029 17208029 C A PCSK2 Synonymous SNV R27R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 87924 chr1 110210775 110210775 T C rs745482462 GSTM2 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 22.8 87925 chr1 110294355 110294355 C T rs373046989 EPS8L3 Nonsynonymous SNV R432Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 2.906 87926 chr12 7045891 7045891 - CAGCAGCAGCAG ATN1 Q502_H503insQQQQ 0.01 0.005 0 4 12 2 0.01 0 0 0 0 0 87927 chr22 19467717 19467717 C T rs4141527 CDC45 Synonymous SNV L30L 0.005 0.005 0.014 3 6 2 0.008 4 0 0 0 0 15.03 87928 chr20 17605271 17605271 T C rs200496231 RRBP1 Nonsynonymous SNV T1033A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.058 87929 chr11 58317562 58317562 T G rs771387487 LPXN Nonsynonymous SNV K162Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.47 87930 chr22 37622839 37622839 C T rs369270392 RAC2 Synonymous SNV S151S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.53 87931 chr1 111032041 111032041 T C rs1857516 CYMP-AS1 0 0 0.014 0 0 0 0 4 0 0 2 0 0.754 87932 chr21 45784023 45784023 C T rs142310115 TRPM2 Nonsynonymous SNV T94M 0.002 0 0.007 0 2 0 0 2 0 0 0 0 19.65 87933 chr12 11420428 11420517 TGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCC - PRB3 G223Sfs*13 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 87934 chr22 38221122 38221122 A C rs200093511 GALR3 Nonsynonymous SNV H251P 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 24.7 87935 chr22 21344814 21344814 C T rs775102121 LZTR1 Nonsynonymous SNV T264M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 87936 chr11 59863104 59863104 A G rs569108 MS4A2 Nonsynonymous SNV E192G 0.03 0.021 0.037 18 35 8 0.046 11 2 0 1 1 risk factor 23.7 87937 chr20 18724857 18724857 C T rs200498196 DTD1 Synonymous SNV S197S 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 17.38 87938 chr1 111969688 111969688 G A rs765412479 OVGP1 Synonymous SNV H17H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.046 87939 chr2 11955262 11955262 G A rs138499303 LPIN1 Synonymous SNV A730A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 87940 chr11 60231809 60231809 A G rs201361363 MS4A1 Nonsynonymous SNV K110E 0.003 0 0 0 3 0 0 0 0 0 0 0 13.35 87941 chr21 46321448 46321448 C T ITGB2 Nonsynonymous SNV E234K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 87942 chr1 114400195 114400195 - A rs11386228 AP4B1-AS1 0 0 0.085 0 0 0 0 25 0 0 11 0 87943 chr1 114445423 114445423 T C rs151293980 AP4B1 Nonsynonymous SNV T59A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 87944 chr12 15102799 15102799 C G rs41276686 ARHGDIB Nonsynonymous SNV V68L 0.011 0.003 0.003 4 13 1 0.01 1 0 0 0 0 8.579 87945 chr22 47311484 47311484 G A rs45555031 TBC1D22A-AS1 0.009 0.013 0.017 2 10 5 0.005 5 0 0 0 0 4.667 87946 chr21 47542794 47542794 C T rs147194375 COL6A2 Synonymous SNV G538G 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign/Likely benign 13.59 87947 chr2 122206690 122206690 G A rs202067173 CLASP1 Synonymous SNV Y510Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.283 87948 chr20 23432534 23432534 G A rs36010049 CST11 Synonymous SNV H84H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.131 87949 chr1 1163994 1163994 G A rs749782502 SDF4 Synonymous SNV D60D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.612 87950 chr12 21008016 21008018 ATT - rs754862840 SLCO1B3, SLCO1B3-SLCO1B7 I19del 0.001 0 0 0 1 0 0 0 0 0 0 0 87951 chr21 47699944 47699944 C T rs149627512 MCM3AP Nonsynonymous SNV A544T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.595 87952 chr11 61109317 61109317 C T TKFC Synonymous SNV S196S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 87953 chr12 22659680 22659680 C T rs142421095 C2CD5 Nonsynonymous SNV R371H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 87954 chr22 24621293 24621293 T C rs7288201 GGT5 Nonsynonymous SNV I399V 0.028 0.023 0.017 11 33 9 0.028 5 0 0 0 0 11.13 87955 chr22 24621586 24621586 T C rs200073930 GGT5 Nonsynonymous SNV I345V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.029 87956 chr22 42474075 42474075 T C rs376953690 PHETA2 X260Q 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 14.82 87957 chr20 25485663 25485663 C T rs138824564 NINL Nonsynonymous SNV C190Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 3.233 87958 chr22 18609549 18609549 G A rs149523842 TUBA8 Synonymous SNV P202P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.11 87959 chr20 29976934 29976934 C T rs141277245 DEFB119 Nonsynonymous SNV R53H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.4 87960 chr20 30414621 30414621 C T rs6089088 MYLK2 Synonymous SNV F368F 0.013 0.013 0.007 1 15 5 0.003 2 0 0 0 0 Benign 16.98 87961 chr22 51121780 51121780 C T rs376862893 SHANK3 Nonsynonymous SNV R375C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 87962 chr20 30556473 30556473 G C XKR7 Synonymous SNV S165S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.054 87963 chr22 30221201 30221201 G A rs1894473 ASCC2 Nonsynonymous SNV R43C 0.016 0.01 0.02 6 19 4 0.015 6 0 0 0 0 22.6 87964 chr1 1336137 1336138 GA - rs34091023 MRPL20-AS1 0 0 0.078 0 0 0 0 23 0 0 2 0 87965 chr1 1337334 1337334 G T rs1171 MRPL20-AS1 0 0 0.058 0 0 0 0 17 0 0 2 0 1.093 87966 chr22 30737736 30737736 G A rs147101204 SF3A1 Nonsynonymous SNV A339V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 19.71 87967 chr2 100938226 100938226 G C rs74177694 LONRF2 Nonsynonymous SNV D110E 0.049 0.055 0.024 29 58 21 0.074 7 24 7 3 10 0.667 87968 chr2 100938241 100938241 G A rs192225848 LONRF2 Synonymous SNV A105A 0.014 0.008 0.01 11 16 3 0.028 3 5 0 1 2 12.03 87969 chr12 39725547 39725547 G T KIF21A Nonsynonymous SNV T997N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 87970 chr20 21492603 21492603 C T rs780379998 NKX2-2 Synonymous SNV P260P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.38 87971 chr1 145539366 145539366 C T rs782640922 ITGA10 Nonsynonymous SNV A869V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 87972 chr12 44238723 44238723 G A rs1948516 TMEM117 Nonsynonymous SNV R90H 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 24.4 87973 chr1 150786664 150786664 C T rs763085947 ARNT Nonsynonymous SNV G652S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 87974 chr2 105886149 105886149 T G rs144071743 TGFBRAP1 Synonymous SNV G662G 0.005 0.013 0.003 1 6 5 0.003 1 0 0 0 0 0.094 87975 chr20 36641471 36641471 C T rs141259940 TTI1 Nonsynonymous SNV E250K 0.001 0 0.01 0 1 0 0 3 0 0 0 0 19.23 87976 chr1 151112483 151112483 T C rs75185260 SEMA6C Nonsynonymous SNV T68A 0.026 0.018 0.024 2 31 7 0.005 7 0 0 0 0 17.15 87977 chr1 151254036 151254036 T A rs11587537 ZNF687-AS1 0 0 0.078 0 0 0 0 23 0 0 1 0 20.9 87978 chr11 65108975 65108975 C T DPF2 Nonsynonymous SNV P136L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 87979 chr22 24479193 24479193 C G rs12166151 CABIN1 Nonsynonymous SNV Q871E 0.03 0.034 0.003 5 35 13 0.013 1 0 1 0 0 4.576 87980 chr22 24581182 24581182 T C rs6004080 SUSD2 Synonymous SNV D301D 0.03 0.031 0.003 5 35 12 0.013 1 0 1 0 0 0.011 87981 chr1 151546816 151546816 T C rs147839657 TUFT1 Nonsynonymous SNV V197A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.777 87982 chr2 108910751 108910751 G A rs17036058 SULT1C2 Nonsynonymous SNV R73Q 0.005 0.016 0.007 1 6 6 0.003 2 0 0 0 0 23.1 87983 chr1 151789252 151789252 G A rs34830957 RORC Synonymous SNV N41N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.94 87984 chr22 32841928 32841928 T C rs199986740 BPIFC Nonsynonymous SNV I144V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.001 87985 chr1 151991140 151991140 G T rs1979637 NBPF18P 0 0 0.092 0 0 0 0 27 0 0 5 0 1.638 87986 chr2 160710153 160710153 T G rs3815875 LY75, LY75-CD302 Nonsynonymous SNV D884A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.036 87987 chr2 160734905 160734905 C T rs376556296 LY75, LY75-CD302 Synonymous SNV E568E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.29 87988 chr2 109546672 109546672 C T rs140728974 EDAR Synonymous SNV A26A 0 0.008 0 0 0 3 0 0 0 0 0 0 12.39 87989 chr22 36055197 36055197 C T rs200170835 APOL6 Nonsynonymous SNV R196C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 87990 chr2 160843813 160843813 C T rs146287694 PLA2R1 Nonsynonymous SNV V631M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 87991 chr22 36537327 36537327 C T rs145559179 APOL3 Nonsynonymous SNV R377Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 6.03 87992 chr2 160901664 160901664 T C rs143871942 PLA2R1 Synonymous SNV K38K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.035 87993 chr2 163029378 163029378 T C rs80245757 FAP Synonymous SNV Q683Q 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 10.77 87994 chr2 163081036 163081036 A G rs78244369 FAP Synonymous SNV A100A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 11.69 87995 chr22 50724247 50724247 C T rs753893606 PLXNB2 Synonymous SNV K690K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 87996 chr2 163133396 163133396 G A rs72650663 IFIH1 Nonsynonymous SNV T702I 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Likely benign 5.929 87997 chr20 3146550 3146550 C T rs140477946 LZTS3 Nonsynonymous SNV G306S 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 23.9 87998 chr2 113404974 113404974 A C rs139798830 SLC20A1 Synonymous SNV A136A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.768 87999 chr2 165551184 165551184 C T rs76695941 COBLL1 Synonymous SNV R906R 0.036 0.008 0.031 8 42 3 0.021 9 0 0 1 0 8.925 88000 chr20 3888696 3888696 A G rs199549943 PANK2 Nonsynonymous SNV Y251C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.5 88001 chr20 39832495 39832495 G C rs41283258 ZHX3 Synonymous SNV A354A 0.008 0 0.003 0 9 0 0 1 0 0 0 0 0.526 88002 chr20 40068759 40068759 C T rs150916140 CHD6 Synonymous SNV R1296R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.21 88003 chr1 153603057 153603057 G A rs148757452 S100A1 Synonymous SNV S20S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.87 88004 chr1 153654228 153654228 C T rs938044592 NPR1 Stop gain Q362X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 88005 chr11 66033418 66033418 G A KLC2 Nonsynonymous SNV G436R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.688 88006 chr22 30489945 30489945 G A rs34150968 HORMAD2 Nonsynonymous SNV A2T 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 19.51 88007 chr2 113940456 113940456 G A rs778911782 PSD4 Synonymous SNV P141P 0 0.005 0 0 0 2 0 0 0 0 0 0 8.974 88008 chr22 38038899 38038899 C T rs1004083849 LOC101927051 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 88009 chr1 154514502 154514502 G A rs34507080 TDRD10 Synonymous SNV V124V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.437 88010 chr22 38229724 38229724 G T rs772436185 ANKRD54 Synonymous SNV R107R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 88011 chr1 155041402 155041402 C T rs777266611 EFNA4 Synonymous SNV P181P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 88012 chr22 39496336 39496336 G A rs139293 APOBEC3H Nonsynonymous SNV R18H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.217 88013 chr2 102505259 102505259 A G rs201787376 MAP4K4 Synonymous SNV A1166A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.92 88014 chr11 68582879 68582879 G A rs939791036 CPT1A Nonsynonymous SNV R22W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 88015 chr11 68673601 68673601 C G rs117061430 IGHMBP2 Nonsynonymous SNV Q51E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.578 88016 chr2 121726394 121726394 C T GLI2 Nonsynonymous SNV R125C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 88017 chr1 156264572 156264572 G A GLMP Nonsynonymous SNV S119F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 88018 chr12 53012128 53012128 C T rs35417182 KRT73 Nonsynonymous SNV V61M 0.024 0.026 0.037 11 28 10 0.028 11 0 0 0 0 1.377 88019 chr22 37273805 37273805 C T rs1858 NCF4 Synonymous SNV F320F 0.008 0.008 0.014 6 9 3 0.015 4 0 0 0 0 Likely benign 13.87 88020 chr2 128631467 128631467 G A rs149079325 AMMECR1L Synonymous SNV D114D 0.006 0.003 0 10 7 1 0.026 0 0 0 0 0 9.062 88021 chr12 53072370 53072370 C T rs2741155 KRT1 Synonymous SNV S254S 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign 9.265 88022 chr22 37333511 37333511 C T rs146859739 CSF2RB Nonsynonymous SNV T554M 0.002 0 0 0 2 0 0 0 0 0 0 0 5.035 88023 chr22 37466639 37466639 C T rs372813399 TMPRSS6 Nonsynonymous SNV E576K 0.003 0 0 0 3 0 0 0 0 0 0 0 34 88024 chr20 3734789 3734789 C T rs145951903 C20orf27 Synonymous SNV T172T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 17.94 88025 chr22 37708164 37708164 G A rs369905837 CYTH4 Nonsynonymous SNV R297H 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 88026 chr2 11284184 11284184 T C rs148657536 C2orf50 Nonsynonymous SNV F146L 0.009 0.005 0.014 4 10 2 0.01 4 1 0 0 0 7.572 88027 chr20 49354598 49354598 A G rs142921418 PARD6B Nonsynonymous SNV I91V 0.008 0.016 0.003 3 9 6 0.008 1 0 0 0 0 10.51 88028 chr12 53454552 53454552 C T rs118159776 TNS2 Synonymous SNV T964T 0.009 0.005 0.014 2 11 2 0.005 4 0 0 0 0 6.754 88029 chr2 179247229 179247229 G A rs149220970 OSBPL6 Nonsynonymous SNV R508Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 88030 chr20 41100922 41100922 C T rs41279250 PTPRT Synonymous SNV V478V 0.009 0.031 0.007 6 10 12 0.015 2 0 0 0 0 Benign 6.986 88031 chr20 41101051 41101051 G A rs41279252 PTPRT Synonymous SNV Y435Y 0.009 0.031 0.01 6 10 12 0.015 3 0 0 0 0 Benign 8.966 88032 chr20 41101161 41101161 T G rs41279254 PTPRT Synonymous SNV R399R 0.009 0.031 0.01 6 10 12 0.015 3 0 0 0 0 Benign 6.315 88033 chr20 41101180 41101180 G A rs41279258 PTPRT Synonymous SNV N392N 0.014 0.039 0.017 10 17 15 0.026 5 2 0 0 0 7.752 88034 chr20 41101195 41101195 T C rs41279260 PTPRT Synonymous SNV V387V 0.009 0.031 0.003 6 10 12 0.015 1 0 0 0 0 Benign 0.901 88035 chr1 158435857 158435857 A G OR10K1 Nonsynonymous SNV H169R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 88036 chr22 44495940 44495940 C T rs35276038 PARVB Synonymous SNV N33N 0.007 0.016 0.007 0 8 6 0 2 0 1 0 0 18.38 88037 chr12 53721954 53721954 C T rs182820275 SP7 Synonymous SNV E424E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.895 88038 chr2 136627911 136627911 C T rs61750436 MCM6 Nonsynonymous SNV R92Q 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 23.9 88039 chr22 39909600 39909600 G A rs138446352 MIEF1 Nonsynonymous SNV D222N 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 24.4 88040 chr2 179444915 179444915 A G rs72646873 TTN Nonsynonymous SNV S13302P 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.01 88041 chr11 75316987 75316987 C T rs139425764 MAP6 Synonymous SNV T394T 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 17.89 88042 chr12 54379295 54379295 C T rs33927265 HOXC10 Synonymous SNV A84A 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Benign 17.43 88043 chr2 119752006 119752006 G A rs61732823 MARCO Synonymous SNV T491T 0.022 0.016 0.01 1 26 6 0.003 3 0 0 0 0 9.741 88044 chr20 56137909 56137909 G A rs774575614 PCK1 Synonymous SNV E188E 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 0.777 88045 chr2 120129841 120129841 A G rs8192506 DBI Nonsynonymous SNV M71V 0.017 0.008 0.003 9 20 3 0.023 1 0 0 0 1 23 88046 chr11 77728180 77728180 C T rs536879431 KCTD14 Nonsynonymous SNV R76H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 88047 chr22 46793621 46793621 T C rs144122307 CELSR1 Nonsynonymous SNV N1884S 0.012 0.008 0.007 10 14 3 0.026 2 0 0 0 1 9.648 88048 chr2 179614411 179614411 G A rs72647901 TTN Nonsynonymous SNV A4239V 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.411 88049 chr22 46793626 46793626 G A CELSR1 Synonymous SNV P1882P 0.005 0 0 5 6 0 0.013 0 0 0 0 0 2.165 88050 chr2 150427678 150427678 T C rs138607412 MMADHC Nonsynonymous SNV N206S 0.007 0.003 0.003 6 8 1 0.015 1 0 0 0 0 Benign/Likely benign 0.001 88051 chr12 55945194 55945194 C T rs139634367 OR6C4 Nonsynonymous SNV R62W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 88052 chr2 152397232 152397232 G A rs34555492 NEB Synonymous SNV D5221D 0.01 0.042 0.027 10 12 16 0.026 8 0 0 0 0 Conflicting interpretations of pathogenicity 11.04 88053 chr2 152420387 152420387 G A rs765644258 NEB Nonsynonymous SNV R4476C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 88054 chr22 43213761 43213761 G A rs139738143 ARFGAP3 Synonymous SNV L261L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.49 88055 chr22 50435827 50435827 C T rs149914294 IL17REL Nonsynonymous SNV C299Y 0.009 0.005 0.01 7 11 2 0.018 3 0 0 0 0 18.1 88056 chr22 50436488 50436488 G A rs142430606 IL17REL Nonsynonymous SNV P262L 0.009 0.005 0.01 7 11 2 0.018 3 0 0 0 0 13.41 88057 chr22 50438279 50438279 T C rs200958270 IL17REL Nonsynonymous SNV E151G 0.007 0 0.014 6 8 0 0.015 4 0 0 0 0 14.99 88058 chr20 45179197 45179197 C T rs201982370 OCSTAMP Star tloss M1? 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 22.6 88059 chr22 44127674 44127674 T C rs150224112 EFCAB6 Nonsynonymous SNV N69S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.098 88060 chr20 47253122 47253122 C T rs150328810 PREX1 Nonsynonymous SNV R1349H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 28.1 88061 chr22 50750835 50750835 G A rs117291362 DENND6B Synonymous SNV T524T 0.02 0.005 0.017 11 23 2 0.028 5 0 0 0 0 8.809 88062 chr22 50754512 50754512 C T rs11553143 DENND6B Nonsynonymous SNV R215H 0.02 0.005 0.024 11 23 2 0.028 7 0 0 0 0 18.85 88063 chr11 92086051 92086051 G A rs780559377 FAT3 Nonsynonymous SNV R258H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.7 88064 chr22 50903668 50903668 C T rs767704759 SBF1 Synonymous SNV P394P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 88065 chr2 135616877 135616877 G A rs145720089 ACMSD Nonsynonymous SNV R50Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.99 88066 chr2 159517972 159517972 G T rs143322313 PKP4-AS1 0.02 0.026 0.027 11 23 10 0.028 8 0 0 0 0 0.537 88067 chr12 57699438 57699438 C T rs747839991 R3HDM2 Synonymous SNV E58E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 88068 chr20 48330163 48330165 AAG - rs755129382 B4GALT5 F22del 0 0 0 1 0 0 0.003 0 0 0 0 0 88069 chr22 45258422 45258422 A C rs145959767 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV T417P 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 0.007 88070 chr20 61444486 61444486 C A rs373481743 OGFR Synonymous SNV R507R 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 12.45 88071 chr2 149528738 149528738 A G rs34444151 EPC2 Nonsynonymous SNV N501S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 14.25 88072 chr11 95825375 95825401 TGCTGCTGCTGCTGCTGCTGCTGCTGC - rs781325682 MAML2 Q613_Q621del 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 88073 chr11 95825393 95825401 TGCTGCTGC - MAML2 Q619_Q621del 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 88074 chr2 162565267 162565267 T G rs191369944 SLC4A10 Synonymous SNV S3S 0.003 0.01 0.007 6 3 4 0.015 2 0 0 0 0 15.64 88075 chr1 165738311 165738311 A T rs2251768 TMCO1-AS1 0 0 0.041 0 0 0 0 12 0 0 6 0 2.398 88076 chr11 100803982 100803982 C T rs79213484 ARHGAP42 Synonymous SNV N231N 0.024 0.023 0.034 10 28 9 0.026 10 0 0 0 0 14.27 88077 chr22 46657881 46657881 T C rs138648054 PKDREJ Nonsynonymous SNV R447G 0.01 0.005 0.003 2 12 2 0.005 1 0 0 0 0 7.776 88078 chr20 5282822 5282822 G A PROKR2 Nonsynonymous SNV T340I 0 0 0 2 0 0 0.005 0 0 0 0 0 18.45 88079 chr2 166201225 166201225 A G rs2228980 SCN2A Nonsynonymous SNV K908R 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 1 Benign/Likely benign 23.8 88080 chr2 101654041 101654041 C T rs979365033 TBC1D8 Nonsynonymous SNV V454I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.233 88081 chr12 65857067 65857067 G A rs200201418 MSRB3 Nonsynonymous SNV A182T 0.016 0.018 0 1 19 7 0.003 0 0 0 0 0 5.059 88082 chr2 152514521 152514521 C T rs140186806 NEB Synonymous SNV K2053K 0.016 0.029 0.017 7 19 11 0.018 5 0 1 0 1 Benign/Likely benign 13.28 88083 chr2 102836364 102836364 A G rs139096768 IL1RL2 Nonsynonymous SNV H151R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.002 88084 chr2 102968231 102968231 G T rs138992262 IL1RL1 Nonsynonymous SNV Q507H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 88085 chr11 102495948 102495948 T G rs61751462 MMP20 Synonymous SNV R35R 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Uncertain significance 5.751 88086 chr2 159519588 159519588 G T rs150480813 PKP4 Synonymous SNV P797P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 9.709 88087 chr20 57429856 57429856 G A GNAS Nonsynonymous SNV G450E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.395 88088 chr20 6759054 6759054 G A rs776834114 BMP2 Nonsynonymous SNV R170Q 0.002 0 0 0 2 0 0 0 0 0 0 0 31 88089 chr1 17292975 17292975 G A rs115823338 CROCC Nonsynonymous SNV R1590H 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 26.8 88090 chr20 8737782 8737782 A G PLCB1 Synonymous SNV T871T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.916 88091 chr2 169833151 169833151 C T rs371656014 ABCB11 Nonsynonymous SNV R415Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 23 88092 chr20 5903932 5903932 G T rs142841879 CHGB Nonsynonymous SNV W381L 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 Benign 0.005 88093 chr1 173834632 173834632 G A rs6790 GAS5 0 0 0.054 0 0 0 0 16 0 0 1 0 1.36 88094 chr20 60883769 60883769 C T rs140380365 ADRM1 Synonymous SNV G353G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.43 88095 chr12 80838611 80838622 GTGACAACAAAT - rs368946018 PTPRQ T51_T54del 0.001 0 0 0 1 0 0 0 0 0 0 0 88096 chr21 27078323 27078323 G A rs200218663 JAM2 Nonsynonymous SNV V208I 0.003 0 0 0 3 0 0 0 0 0 0 0 19.17 88097 chr21 28212788 28212788 G A rs200516742 ADAMTS1 Nonsynonymous SNV T491I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.36 88098 chr1 17570577 17570577 T G PADI1 Nonsynonymous SNV C611G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 88099 chr12 85515519 85515519 G A rs61738629 LRRIQ1 Nonsynonymous SNV G1141D 0.041 0.031 0.041 8 48 12 0.021 12 0 1 0 0 24 88100 chr11 113269724 113269724 G A rs139270089 ANKK1 Nonsynonymous SNV D345N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.703 88101 chr2 175742841 175742841 G C rs200043744 CHN1 Synonymous SNV T109T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.834 88102 chr21 30464866 30464866 A G rs3746843 MAP3K7CL Nonsynonymous SNV I112V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.484 88103 chr11 113561025 113561025 G A rs11214703 TMPRSS5 Synonymous SNV C265C 0.01 0.008 0.02 5 12 3 0.013 6 0 0 0 0 Benign 8.131 88104 chr2 119699963 119699963 C T rs759366698 MARCO Synonymous SNV F29F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.171 88105 chr2 103334913 103334913 C T MFSD9 Nonsynonymous SNV S403N 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.033 88106 chr2 120012405 120012405 G A rs41279768 STEAP3 Nonsynonymous SNV R389K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 21.8 88107 chr1 179959685 179959685 C G rs779430253 CEP350 Nonsynonymous SNV T55R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 88108 chr20 62172627 62172627 C A rs139360881 SRMS Nonsynonymous SNV R401L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.23 88109 chr1 182808646 182808646 C G rs6690440 LOC647070 0 0 0.014 0 0 0 0 4 0 0 2 0 8.067 88110 chr11 118754662 118754662 G A rs552138226 CXCR5 Synonymous SNV P4P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.377 88111 chr2 179583152 179583152 T C TTN Nonsynonymous SNV I6983M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 88112 chr2 135616903 135616903 C T rs267598885 ACMSD Nonsynonymous SNV R59C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 88113 chr12 105322275 105322275 C T SLC41A2 Nonsynonymous SNV D11N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 88114 chr12 105388357 105388357 C T rs372211138 C12orf45 Synonymous SNV D147D 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 16.4 88115 chr21 40652152 40652152 G A rs755910980 BRWD1 Nonsynonymous SNV S285F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 23.8 88116 chr11 120531073 120531073 G A rs200538196 GRIK4 Nonsynonymous SNV V16M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.39 88117 chr2 219258856 219258856 T C rs17215556 SLC11A1 Nonsynonymous SNV V443A 0.012 0.013 0 5 14 5 0.013 0 0 0 0 1 Benign 24.4 88118 chr2 186666537 186666537 T C FSIP2 Synonymous SNV Y4168Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.001 88119 chr2 219259354 219259354 G A rs573061945 SLC11A1 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 88120 chr1 190769109 190769112 GTGT - rs6143537 LINC01720 0 0 0.065 0 0 0 0 19 0 0 9 0 88121 chr2 143799625 143799625 C T rs147475752 KYNU Nonsynonymous SNV R428W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.5 88122 chr21 43321769 43321769 G A rs777276877 C2CD2 Nonsynonymous SNV R353W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 88123 chr12 110221535 110221535 G A TRPV4 Nonsynonymous SNV S729L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21 88124 chr21 30439335 30439335 C T rs139906177 CCT8 Nonsynonymous SNV V74I 0.01 0.008 0.02 4 12 3 0.01 6 0 0 0 0 23.1 88125 chr12 110471633 110471633 A G rs75891377 ANKRD13A Synonymous SNV Q460Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.359 88126 chr12 110764230 110764230 G A rs375924802 ATP2A2 Nonsynonymous SNV V194I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 88127 chr2 152296641 152296641 G T rs151107720 RIF1 Synonymous SNV L549L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 88128 chr2 152302942 152302942 C T rs117711862 RIF1 Synonymous SNV A699A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.383 88129 chr12 112819894 112819894 C T rs1017664314 HECTD4 Synonymous SNV A13A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.5 88130 chr2 152321090 152321090 C G rs3732305 RIF1 Nonsynonymous SNV R1686G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 88131 chr2 152321272 152321272 C T rs150672982 RIF1 Synonymous SNV L1746L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.449 88132 chr2 152342310 152342310 G A rs3821324 NEB Synonymous SNV T6658T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.9 88133 chr2 152362730 152362730 T G rs118191309 NEB Nonsynonymous SNV K6166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.94 88134 chr2 152372974 152372974 C T rs3732309 NEB Nonsynonymous SNV G5934E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.17 88135 chr21 44590450 44590450 C T CRYAA, CRYAA2 Synonymous SNV V3V 0.009 0.013 0 0 11 5 0 0 0 0 0 0 2.534 88136 chr2 152417134 152417134 G T rs139636644 NEB Nonsynonymous SNV A4728D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 88137 chr2 133174933 133174933 G A GPR39 Synonymous SNV L106L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.008 88138 chr2 152417135 152417135 C T rs149752325 NEB Nonsynonymous SNV A4728T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 88139 chr2 220239671 220239671 C T rs369409896 DNPEP Nonsynonymous SNV R410Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 88140 chr21 45212603 45212603 G A rs762124046 RRP1 Synonymous SNV T89T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.23 88141 chr2 152432794 152432794 T C rs369688367 NEB Synonymous SNV R3892R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.649 88142 chr21 34652167 34652167 G A rs45545138 IL10RB Nonsynonymous SNV V148M 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.82 88143 chr21 45533653 45533653 C A rs200412428 LOC102724159, PWP2 Nonsynonymous SNV P51T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 88144 chr12 104378698 104378698 - AGGATGCAAAGAAGATGGCTGTTAA TDG Frameshift insertion E188Gfs*8 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 88145 chr1 201012449 201012449 A T rs146696748 CACNA1S Nonsynonymous SNV Y1670N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 88146 chr1 201046215 201046215 T C CACNA1S Nonsynonymous SNV N554D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 88147 chr1 201058391 201058391 A G rs35856559 CACNA1S Nonsynonymous SNV Y299H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.7 88148 chr2 191301666 191301666 C T MFSD6 Nonsynonymous SNV S304F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.4 88149 chr1 201084425 201084425 T C rs111326937 ASCL5 Nonsynonymous SNV M26V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 88150 chr2 191383778 191383778 G A rs61995721 NEMP2 Synonymous SNV N115N 0.023 0.018 0.027 9 27 7 0.023 8 1 0 0 0 10.3 88151 chr2 159519488 159519488 G C PKP4 Nonsynonymous SNV G764A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 88152 chr2 197943489 197943489 T G rs61752172 ANKRD44 Nonsynonymous SNV K530Q 0.019 0.034 0.01 9 22 13 0.023 3 0 0 0 0 24.8 88153 chr21 46078021 46078021 G A rs781955267 KRTAP12-3 Nonsynonymous SNV R42H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 88154 chr12 120152084 120152084 G A rs34105832 CIT Synonymous SNV N1366N 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 Benign/Likely benign 11.94 88155 chr11 124670069 124670069 G A rs183501631 MSANTD2 Synonymous SNV L70L 0.02 0.008 0.01 10 24 3 0.026 3 0 0 0 0 7.311 88156 chr12 120156175 120156175 G A rs139699922 CIT Nonsynonymous SNV T1306M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 31 88157 chr21 46311851 46311851 G A rs749526925 ITGB2 Nonsynonymous SNV R429W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 88158 chr2 197863698 197863698 G A rs17385301 ANKRD44 Synonymous SNV N866N 0.049 0.042 0.051 15 58 16 0.038 15 0 0 1 0 5.884 88159 chr2 160206529 160206529 C T BAZ2B Nonsynonymous SNV S1482N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.25 88160 chr1 201489569 201489569 G A rs7354939 RPS10P7 0 0 0.044 0 0 0 0 13 0 0 5 0 4.417 88161 chr2 201846083 201846083 G A rs17467902 FAM126B Synonymous SNV G501G 0.009 0.008 0.007 7 10 3 0.018 2 0 0 0 0 6.267 88162 chr12 121570899 121570899 G T rs35933842 P2RX7 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Likely benign 24.6 88163 chr2 163075627 163075627 A G rs78722278 FAP Nonsynonymous SNV F160L 0.011 0.005 0.014 1 13 2 0.003 4 0 0 0 0 Likely benign 16.95 88164 chr2 165793889 165793889 C T rs750915521 SLC38A11 Star tloss M74I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.062 88165 chr2 202545596 202545596 G A rs758311354 MPP4 Synonymous SNV C298C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 7.25 88166 chr12 121687661 121687661 C T rs138706708 CAMKK2 Nonsynonymous SNV D418N 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 23.8 88167 chr21 47769078 47769078 T C rs764314231 PCNT Synonymous SNV F277F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.753 88168 chr2 202195236 202195236 C T rs769207665 FLACC1 Nonsynonymous SNV G211E 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.341 88169 chr12 122242664 122242664 C G SETD1B Synonymous SNV P7P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.88 88170 chr2 202245708 202245708 G A rs772281604 TRAK2 Nonsynonymous SNV P768L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.17 88171 chr1 204210592 204210592 G A rs373968079 PLEKHA6 Nonsynonymous SNV R774W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 88172 chr2 162865133 162865133 C T rs41268649 DPP4 Synonymous SNV S642S 0.021 0.023 0.007 12 25 9 0.031 2 1 0 0 0 20.8 88173 chr22 17444715 17444715 G A rs200669352 GAB4 Nonsynonymous SNV P341L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.9 88174 chr2 231106154 231106154 G T rs189296991 SP140 Nonsynonymous SNV V148L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 88175 chr2 164466965 164466965 C T FIGN Synonymous SNV E448E 0.003 0 0 0 3 0 0 0 0 0 0 0 6.283 88176 chr11 134153721 134153721 C G rs147078049 GLB1L3 Synonymous SNV P206P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.23 88177 chr12 123214372 123214372 G A rs61742326 HCAR1 Nonsynonymous SNV S172L 0.015 0.021 0 10 18 8 0.026 0 0 1 0 0 23.7 88178 chr2 233410293 233410293 G A rs16829216 CHRNG Nonsynonymous SNV R474H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 88179 chr22 19431794 19431794 G A rs61748355 C22orf39 Synonymous SNV D141D 0.015 0.013 0.003 5 18 5 0.013 1 0 0 0 0 6.17 88180 chr12 1965243 1965243 T C rs115228472 CACNA2D4 Nonsynonymous SNV H696R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 24.8 88181 chr12 1965265 1965265 T C rs76224631 CACNA2D4 Nonsynonymous SNV I689V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 1.511 88182 chr1 207975315 207975315 C T rs150749580 MIR29B2CHG 0 0 0.031 0 0 0 0 9 0 0 0 0 9.929 88183 chr12 2930027 2930027 G A rs2968908 ITFG2 Synonymous SNV T228T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.709 88184 chr21 45953660 45953660 C T rs782696528 TSPEAR Synonymous SNV P150P 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Likely benign 10.58 88185 chr22 21327721 21327721 G T rs772505763 AIFM3 Stop gain E53X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 88186 chr2 170092439 170092439 G A rs151079411 LRP2 Synonymous SNV L1611L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.52 88187 chr2 208993151 208993151 G C rs376751793 CRYGC Nonsynonymous SNV L101V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23 88188 chr2 21234674 21234674 C T rs151009667 APOB Nonsynonymous SNV R1689H 0 0.008 0 1 0 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 88189 chr12 123339862 123339862 G A rs766795987 HIP1R Synonymous SNV P301P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.74 88190 chr12 132334430 132334430 G A rs145624993 MMP17 Nonsynonymous SNV G430S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 88191 chr2 179588838 179588838 G A rs202089818 TTN Synonymous SNV L5806L 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.15 88192 chr12 132547094 132547105 CAGCAGCAGCAG - EP400 Q2745_Q2748del 0.003 0 0 0 4 0 0 0 0 0 0 0 88193 chr1 214815664 214815664 G A rs751835284 CENPF Nonsynonymous SNV C1328Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 88194 chr2 179393551 179393551 C T rs754459138 TTN Nonsynonymous SNV V26578I 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 15.21 88195 chr12 7045894 7045894 - CAGCAGCAG ATN1 Q502_H503insQQQ 0.002 0 0 4 2 0 0.01 0 0 0 0 0 88196 chr2 179644087 179644087 T C TTN Nonsynonymous SNV K1232E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 88197 chr22 17468886 17468886 G A rs61743894 GAB4 Nonsynonymous SNV S217L 0.009 0 0.007 2 10 0 0.005 2 0 0 0 0 8.393 88198 chr2 216964944 216964944 C T rs61732367 TMEM169 Synonymous SNV F191F 0.014 0.013 0.027 9 17 5 0.023 8 0 0 0 0 12.7 88199 chr13 19751245 19751245 T C rs36216107 TUBA3C Nonsynonymous SNV N293S 0.013 0.021 0.007 5 15 8 0.013 2 0 0 0 0 6.705 88200 chr22 18300264 18300264 C T rs140578646 MICAL3 Synonymous SNV P1721P 0.009 0.018 0.017 10 11 7 0.026 5 0 0 0 0 6.733 88201 chr22 18300470 18300470 G T rs45518631 MICAL3 Nonsynonymous SNV P1653T 0.004 0.018 0.017 9 5 7 0.023 5 0 0 0 0 0.002 88202 chr2 241405613 241405613 A C rs137923533 GPC1 Nonsynonymous SNV K528T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.601 88203 chr2 182767178 182767178 C G rs34087767 ITPRID2 Synonymous SNV S313S 0.013 0.003 0.034 4 15 1 0.01 10 1 0 0 1 12.04 88204 chr13 20567666 20567666 G C rs35516773 ZMYM2 Nonsynonymous SNV D152H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 24.9 88205 chr2 219319666 219319666 C T rs61752208 USP37 Nonsynonymous SNV R976H 0.014 0.016 0.003 8 16 6 0.021 1 0 0 0 0 Benign 21.9 88206 chr2 219602509 219602509 C T rs750503144 TTLL4 Nonsynonymous SNV S37L 0.007 0.01 0 6 8 4 0.015 0 0 0 0 0 18.24 88207 chr2 219521110 219521110 C T rs61733649 ZNF142 Nonsynonymous SNV G15R 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 23.3 88208 chr2 220078652 220078652 C T rs147445258 ABCB6 Nonsynonymous SNV A446T 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 26.1 88209 chr1 22200947 22200947 G T rs375214661 HSPG2 Nonsynonymous SNV P1204Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.4 88210 chr22 21104211 21104211 G A PI4KA Synonymous SNV V1053V 0 0 0 6 0 0 0.015 0 0 0 0 0 12.54 88211 chr22 29708320 29708320 C T rs183007766 GAS2L1 Nonsynonymous SNV P400L 0.01 0.013 0 3 12 5 0.008 0 0 0 0 0 0.583 88212 chr2 242066584 242066584 G A rs9677402 PASK Synonymous SNV S582S 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 Benign 5.756 88213 chr22 30770787 30770787 T C rs555023250 KIAA1656 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 2.767 88214 chr1 224415268 224415268 G A rs373114596 LOC101927164 0 0 0.003 0 0 0 0 1 0 0 0 0 4.905 88215 chr2 242256951 242256952 TT - SEPTIN2 F42Lfs*16 0.02 0.013 0 7 23 5 0.018 0 0 0 0 0 88216 chr2 189899670 189899670 C T rs761126767 COL5A2 Nonsynonymous SNV R1442Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.3 88217 chr22 31285689 31285689 C G rs186356398 LOC107985544 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.958 88218 chr1 226411539 226411539 G C rs562675827 MIXL1 Nonsynonymous SNV A53P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.19 88219 chr1 226421108 226421108 G A rs142771300 LIN9 Synonymous SNV C361C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.29 88220 chr1 226573216 226573216 C T rs3219057 PARP1 Nonsynonymous SNV V334I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.4 88221 chr1 226785102 226785102 A G rs73098850 STUM 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 1.212 88222 chr12 11420778 11420778 C T rs11054206 PRB3 Synonymous SNV P135P 0.012 0.023 0 6 14 9 0.015 0 6 4 0 2 11.64 88223 chr2 26405894 26405894 C T GAREM2 Synonymous SNV S27S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 88224 chr22 32880006 32880006 A G rs41311141 FBXO7 Synonymous SNV P101P 0.032 0.021 0.02 9 37 8 0.023 6 0 0 0 0 Benign/Likely benign 8.838 88225 chr1 227268601 227268601 T G rs77122651 CDC42BPA Nonsynonymous SNV I744L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 88226 chr2 200776354 200776354 C T rs747576112 C2orf69 Nonsynonymous SNV P65S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 88227 chr1 228003436 228003436 G A rs79071093 PRSS38 Nonsynonymous SNV V7I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.451 88228 chr1 228003807 228003807 C T rs111521531 PRSS38 Synonymous SNV S55S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.575 88229 chr1 228295527 228295527 G A rs822730 MRPL55 Nonsynonymous SNV R24C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.918 88230 chr22 36697694 36697694 C T rs34498733 MYH9 Synonymous SNV Q839Q 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 14.38 88231 chr13 41705419 41705419 G A KBTBD6 Nonsynonymous SNV P410L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 88232 chr2 202356433 202356433 G A rs149839128 C2CD6 Nonsynonymous SNV P1544L 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 13.87 88233 chr1 228476484 228476484 G A rs56271332 OBSCN Nonsynonymous SNV G3412R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.3 88234 chr12 20801798 20801798 T C rs2229180 PDE3A Synonymous SNV F592F 0.015 0.003 0.017 1 18 1 0.003 5 0 0 0 0 Benign 5.382 88235 chr1 228480317 228480317 C T rs62621834 OBSCN Nonsynonymous SNV P3566L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.5 88236 chr2 27800659 27800659 G C rs201068190 C2orf16 Nonsynonymous SNV C407S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 88237 chr2 191159338 191159338 C G rs200185893 HIBCH Nonsynonymous SNV E80Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 16.76 88238 chr1 228505431 228505431 C T rs116642293 OBSCN Synonymous SNV L4610L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.175 88239 chr2 205986438 205986438 T C rs187262553 PARD3B Synonymous SNV N310N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 88240 chr1 228529848 228529848 C T rs1188715 OBSCN Synonymous SNV A6021A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.17 88241 chr1 228559386 228559386 G A rs60919227 OBSCN Synonymous SNV P6969P 0.014 0.016 0.007 7 16 6 0.018 2 1 0 0 0 8.113 88242 chr2 206869821 206869821 A G INO80D Synonymous SNV H785H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.385 88243 chr2 32582407 32582407 G T BIRC6 Nonsynonymous SNV D60Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.7 88244 chr22 38477578 38477578 A G SLC16A8 Nonsynonymous SNV F156S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 88245 chr2 32582408 32582408 A C BIRC6 Nonsynonymous SNV D60A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 88246 chr2 32658787 32658787 C T rs36065012 BIRC6 Synonymous SNV F1108F 0.01 0.01 0.01 6 12 4 0.015 3 0 0 0 0 Benign 17.09 88247 chr2 207625644 207625644 T C MDH1B Nonsynonymous SNV Q39R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.15 88248 chr22 31534735 31534735 G C PLA2G3 Nonsynonymous SNV Q189E 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 20.8 88249 chr22 31536239 31536239 G C PLA2G3 Synonymous SNV T34T 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 0.848 88250 chr12 27863799 27863799 C G rs149994546 MRPS35 Nonsynonymous SNV A8G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.741 88251 chr1 231954609 231954609 G A rs1535529 TSNAX-DISC1 0 0 0.065 0 0 0 0 19 0 0 1 0 4.191 88252 chr12 29423524 29423524 G T rs73063608 FAR2 Nonsynonymous SNV A48S 0.008 0.01 0.014 0 9 4 0 4 0 0 0 0 9.558 88253 chr2 3623418 3623418 G A rs201230139 RPS7 Synonymous SNV E29E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.726 88254 chr1 233807177 233807177 C A rs201127875 KCNK1 Synonymous SNV I304I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 88255 chr22 36122427 36122427 A G rs148961458 APOL5 Synonymous SNV S104S 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 0.062 88256 chr2 202672232 202672232 G C rs748922435 CDK15 Nonsynonymous SNV E47Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 88257 chr2 234688374 234688374 C T rs138245177 MROH2A Nonsynonymous SNV T51M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.137 88258 chr2 235951138 235951138 C T SH3BP4 Synonymous SNV P575P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.87 88259 chr2 236617869 236617869 G A rs8178995 AGAP1 Synonymous SNV P70P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.54 88260 chr2 234703065 234703065 C T rs187531871 MROH2A Synonymous SNV N293N 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 12.4 88261 chr2 237032574 237032574 C T rs73996547 AGAP1 Synonymous SNV D741D 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 7.204 88262 chr2 237308065 237308065 C T rs142121403 IQCA1 Nonsynonymous SNV A360T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.604 88263 chr13 77531652 77531652 G A rs7995462 ACOD1 Synonymous SNV S326S 0.014 0.01 0.01 5 16 4 0.013 3 0 0 0 0 5.162 88264 chr2 21232171 21232171 C T rs754845007 APOB Nonsynonymous SNV M2523I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 88265 chr22 37887806 37887806 G A rs55875977 CARD10 Synonymous SNV I940I 0.007 0.01 0 11 8 4 0.028 0 0 0 0 0 Benign 15.59 88266 chr22 43525262 43525262 C T rs148407250 BIK Nonsynonymous SNV A145V 0.014 0.013 0.003 2 16 5 0.005 1 0 0 0 0 22.7 88267 chr2 43992575 43992575 C A rs10495905 PLEKHH2 Synonymous SNV I1440I 0.009 0.018 0.01 3 11 7 0.008 3 0 0 0 0 22.9 88268 chr13 103053983 103053983 A G rs773941026 FGF14 Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.98 88269 chr1 23695671 23695671 - G rs561674504 ZNF436-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 88270 chr1 237777999 237777999 G A rs371934582 RYR2 Synonymous SNV P1857P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.934 88271 chr1 237778082 237778082 G C rs41315858 RYR2 Nonsynonymous SNV G1885A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 88272 chr22 45218286 45218286 A G rs16992915 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV Y141C 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 19.38 88273 chr1 237982383 237982383 C T rs114303476 RYR2 Synonymous SNV I4827I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 17.49 88274 chr1 23847529 23847529 C T rs2229297 E2F2 Nonsynonymous SNV G205R 0.015 0.01 0.02 5 18 4 0.013 6 0 0 0 0 11.25 88275 chr22 40661149 40661149 T C rs78817490 TNRC6B Synonymous SNV N305N 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign 0.067 88276 chr2 50758501 50758501 C T rs755177932 NRXN1 Synonymous SNV T709T 0 0.005 0 0 0 2 0 0 0 0 0 0 11.96 88277 chr22 41195082 41195082 G A rs117487309 SLC25A17 Synonymous SNV S20S 0.008 0.003 0.007 4 9 1 0.01 2 1 0 0 0 14.61 88278 chr2 54135936 54135936 T C rs2302878 PSME4 Nonsynonymous SNV I872V 0.013 0.01 0.014 2 15 4 0.005 4 0 0 0 0 14.63 88279 chr2 219755048 219755048 C T rs201578578 WNT10A Nonsynonymous SNV A240V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 32 88280 chr2 241874349 241874349 C T rs189752851 CROCC2 Nonsynonymous SNV A603V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 88281 chr2 241889791 241889791 C T rs768794461 CROCC2 Nonsynonymous SNV A898V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.056 88282 chr22 42305801 42305801 T C rs756893043 SHISA8 Nonsynonymous SNV R388G 0.011 0.013 0.007 3 13 5 0.008 2 0 0 0 0 10.79 88283 chr1 24417419 24417419 T C rs147902167 MYOM3 Nonsynonymous SNV I434V 0.007 0.005 0.014 6 8 2 0.015 4 0 0 0 0 1.629 88284 chr2 241696841 241696846 TCCTCC - rs778420481 KIF1A E916_E917del 0.012 0.018 0 3 14 7 0.008 0 0 0 0 0 88285 chr1 244217415 244217415 C T rs151264221 ZBTB18 Synonymous SNV L104L 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 12.06 88286 chr22 42482252 42482252 G A rs113437301 NDUFA6 Nonsynonymous SNV H108Y 0.011 0.016 0.01 3 13 6 0.008 3 0 0 0 0 Likely benign 22.6 88287 chr12 49730056 49730056 G T rs142480495 C1QL4 Synonymous SNV R69R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.272 88288 chr1 244715967 244715967 C T rs371932318 CATSPERE Nonsynonymous SNV R143W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 88289 chr2 242080062 242080062 C T rs13392516 PASK Synonymous SNV P101P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 9.335 88290 chr1 245027043 245027043 G A rs756832741 HNRNPU Synonymous SNV G189G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.251 88291 chr2 242097272 242097272 G T rs777526372 PPP1R7 Nonsynonymous SNV A35S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 88292 chr2 241974002 241974002 C G rs6736167 SNED1 Synonymous SNV G220G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 4.433 88293 chr1 245849651 245849651 C G KIF26B Synonymous SNV P1122P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.6 88294 chr2 219247790 219247790 C T rs7576974 SLC11A1 Synonymous SNV L39L 0.009 0.003 0.014 2 11 1 0.005 4 1 0 0 0 12.33 88295 chr1 2460975 2460975 G C rs567343294 HES5 Nonsynonymous SNV S145C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.996 88296 chr12 50187579 50187579 C A rs191603809 NCKAP5L Nonsynonymous SNV A1066S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 19.8 88297 chr2 242035459 242035461 TCG - rs112664190 MTERF4 D178del 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 88298 chr2 242065781 242065781 G A rs73112175 PASK Nonsynonymous SNV T850M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 0.002 88299 chr2 242066250 242066250 C T rs6727226 PASK Nonsynonymous SNV V694M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 1.282 88300 chr2 242207002 242207002 C T rs766883378 HDLBP Nonsynonymous SNV S21N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.161 88301 chr1 247065917 247065917 T C rs148243382 AHCTF1 Nonsynonymous SNV R343G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.7 88302 chr2 219602540 219602540 G T rs61733652 TTLL4 Nonsynonymous SNV Q47H 0.004 0 0.003 1 5 0 0.003 1 1 0 0 0 Benign 25.2 88303 chr2 242152039 242152039 G C rs148425768 ANO7 Nonsynonymous SNV E576Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 88304 chr12 50745792 50745792 G A rs777559312 FAM186A Nonsynonymous SNV A1608V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 88305 chr2 219894191 219894191 G T rs150200816 CFAP65 Nonsynonymous SNV H463Q 0.006 0 0.003 0 7 0 0 1 1 0 0 0 12.13 88306 chr1 247607973 247607973 C T rs139814109 NLRP3 Nonsynonymous SNV T840M 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 88307 chr22 43894121 43894121 C T rs145454538 MPPED1 Synonymous SNV P213P 0.022 0.026 0.014 11 26 10 0.028 4 1 0 0 0 15.59 88308 chr1 247752196 247752196 C A OR2G2 Nonsynonymous SNV H179N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 88309 chr2 220115422 220115422 G A rs147351423 TUBA4A Synonymous SNV A318A 0.006 0 0.003 0 7 0 0 1 1 0 0 0 Benign 5.843 88310 chr2 68805143 68805143 A - rs149897324 APLF R510Efs*5 0.005 0.013 0.014 6 6 5 0.015 4 0 0 0 0 88311 chr2 220164968 220164968 G A rs149332815 PTPRN Nonsynonymous SNV P392L 0.005 0.003 0 1 6 1 0.003 0 1 0 0 0 9.936 88312 chr22 45258161 45258161 C T rs150225391 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV P295L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 88313 chr22 45593765 45593765 G A rs73434134 KIAA0930 Synonymous SNV V360V 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 12.23 88314 chr22 45595833 45595833 G C rs12170881 KIAA0930 Synonymous SNV P312P 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 9.12 88315 chr22 45595872 45595872 C A rs12169667 KIAA0930 Synonymous SNV R299R 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 15.72 88316 chr12 52056696 52056696 G A rs375419028 SCN8A Nonsynonymous SNV S32N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 22.6 88317 chr2 25991696 25991696 G A rs772402028 ASXL2 Synonymous SNV C124C 0 0.003 0 0 0 1 0 0 0 0 0 0 4.494 88318 chr22 50969367 50969367 T G rs201117478 ODF3B Nonsynonymous SNV K180T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 29.9 88319 chr2 223289380 223289380 G A rs376841716 SGPP2 Nonsynonymous SNV R20H 0.01 0.021 0.02 4 12 8 0.01 6 0 0 0 0 22.4 88320 chr2 71651807 71651807 C T rs762190588 ZNF638 Nonsynonymous SNV P1518S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.522 88321 chr22 46685420 46685420 C T rs376196512 TTC38 Nonsynonymous SNV R402C 0.002 0 0 4 2 0 0.01 0 0 0 0 0 35 88322 chr2 27275934 27275934 - ATCT rs746726560 AGBL5 Frameshift insertion G37Ifs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 88323 chr2 27275935 27275935 - CAA rs768411217 AGBL5 G37delinsAS 0 0.003 0 0 0 1 0 0 0 0 0 0 88324 chr2 27275939 27275939 - AGCA rs781700817 AGBL5 Frameshift insertion S40Gfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 88325 chr2 27275941 27275941 - GGC rs748478636 AGBL5 A39delinsGP 0 0.003 0 0 0 1 0 0 0 0 0 0 88326 chr2 27275943 27275943 G A rs368039686 AGBL5 Synonymous SNV A39A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.896 88327 chr2 27275946 27275946 - CCCTTGCCGCACGCTGCGGGCGGAG rs770225187 AGBL5 Frameshift insertion A41Pfs*19 0 0.003 0 0 0 1 0 0 0 0 0 0 88328 chr2 228881588 228881588 C T rs61752223 SPHKAP Nonsynonymous SNV A1328T 0.005 0.01 0.014 0 6 4 0 4 0 0 0 0 0.012 88329 chr12 52938474 52938474 C A rs144618122 KRT71 Nonsynonymous SNV V472F 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 Likely benign 25 88330 chr12 52942061 52942061 C T rs141914500 KRT71 Nonsynonymous SNV V285I 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 24.5 88331 chr2 27454906 27454906 G A CAD Nonsynonymous SNV G757D 0 0.003 0 0 0 1 0 0 0 0 0 0 27 88332 chr2 29063288 29063288 C A SPDYA Stop gain S268X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 88333 chr22 47059939 47059939 G A rs16995533 GRAMD4 Synonymous SNV P240P 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 10.48 88334 chr2 103040310 103040310 G A rs760633536 IL18RAP Nonsynonymous SNV R37K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 88335 chr1 248685837 248685837 T G rs201151708 OR2G6 Nonsynonymous SNV V297G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 88336 chr2 230723936 230723936 C T rs758728567 TRIP12 Synonymous SNV R151R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.6 88337 chr2 74641736 74641741 CGGGTC - C2orf81 T427_R428del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 88338 chr2 74689432 74689432 C T rs34075781 MOGS Nonsynonymous SNV R495Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 22.8 88339 chr14 21458653 21458653 T G rs750322796 METTL17 Nonsynonymous SNV V87G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 88340 chr1 2538417 2538417 G A rs200242501 MMEL1 Synonymous SNV T209T 0.001 0.008 0.003 4 1 3 0.01 1 0 0 0 0 7.803 88341 chr1 26349905 26349905 T C rs776742575 EXTL1 Synonymous SNV P256P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.156 88342 chr12 53218018 53218018 C T rs202176426 KRT79 Synonymous SNV R328R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.276 88343 chr2 33752240 33752240 G A rs142000180 RASGRP3 Nonsynonymous SNV G282S 0.008 0.01 0.027 5 9 4 0.013 8 0 0 0 0 24.4 88344 chr2 36704127 36704127 G A rs144913926 CRIM1 Nonsynonymous SNV V363I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 88345 chr2 37000956 37000956 C G rs140104536 VIT Stop gain Y234X 0.014 0.016 0.01 2 16 6 0.005 3 0 0 0 0 Benign 33 88346 chr1 27023212 27023212 C T rs551186176 ARID1A Synonymous SNV N106N 0.003 0.003 0.007 0 3 1 0 2 0 0 1 0 Likely benign 10.47 88347 chr1 2704125 2704125 C T rs61737584 TTC34 Nonsynonymous SNV R592Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12 88348 chr22 51159912 51159912 C T rs371876840 SHANK3 Synonymous SNV N1278N 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Likely benign 10.77 88349 chr2 88883014 88883014 T A rs55791823 EIF2AK3 Nonsynonymous SNV D415V 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 88350 chr2 95942038 95942038 C T rs200767057 PROM2 Synonymous SNV I187I 0 0.005 0 0 0 2 0 0 0 0 0 0 8.062 88351 chr14 23519131 23519131 C T rs116261083 CDH24 Nonsynonymous SNV R462H 0.032 0.031 0.031 11 37 12 0.028 9 1 0 0 0 21.5 88352 chr2 234875324 234875324 T C TRPM8 Synonymous SNV A650A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.25 88353 chr12 55641586 55641586 T C OR6C74 Nonsynonymous SNV V172A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 88354 chr2 10132274 10132274 T C rs72784461 GRHL1 Synonymous SNV H487H 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 8.872 88355 chr2 237406113 237406113 C T rs201568149 IQCA1 Stop gain W10X 0.003 0 0.003 0 3 0 0 1 0 0 0 0 42 88356 chr14 23852497 23852497 T C rs17091278 MYH6 Synonymous SNV L1866L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 6.082 88357 chr2 46707626 46707626 C T rs376176475 TMEM247 Nonsynonymous SNV P67L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.66 88358 chr14 23855645 23855645 A G rs61742476 MYH6 Nonsynonymous SNV V1613A 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 Benign/Likely benign 14.49 88359 chr2 102642663 102642663 T C rs771277638 IL1R2 Synonymous SNV C326C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.263 88360 chr14 23855705 23855705 T A rs45574136 MYH6 Nonsynonymous SNV Q1593L 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Benign/Likely benign 12.9 88361 chr2 238287747 238287747 G A rs137923508 COL6A3 Nonsynonymous SNV R270C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 26.8 88362 chr2 47748382 47748382 C T rs761937723 KCNK12 Synonymous SNV A319A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.73 88363 chr2 48738525 48738525 T C rs750073115 PPP1R21 Nonsynonymous SNV M702T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 88364 chr2 105977842 105977842 G A rs755230829 FHL2 Synonymous SNV N132N 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 12.93 88365 chr2 240913012 240913012 G C rs144489062 NDUFA10 Nonsynonymous SNV R356G 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 0.236 88366 chr2 128388448 128388448 G A rs749503182 MYO7B Synonymous SNV L1608L 0.009 0.008 0 0 10 3 0 0 0 0 0 0 0.282 88367 chr12 56997165 56997165 C T rs368792704 BAZ2A Nonsynonymous SNV R1086H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 88368 chr3 107881382 107881382 T C rs35713185 IFT57 Nonsynonymous SNV N411S 0.008 0.018 0.01 2 9 7 0.005 3 0 0 0 0 Benign 10.09 88369 chr1 35442313 35442313 T A rs12404674 LOC653160 0 0 0.034 0 0 0 0 10 0 0 0 0 10.59 88370 chr1 35442633 35442633 C A rs147890638 LOC653160 0 0 0.02 0 0 0 0 6 0 0 0 0 10.11 88371 chr12 57601973 57601973 C T rs150111762 LRP1 Synonymous SNV H4004H 0.002 0 0 0 2 0 0 0 0 0 0 0 19.31 88372 chr1 3663057 3663057 A T rs3737590 TP73-AS1 0 0 0.092 0 0 0 0 27 0 0 8 0 6.134 88373 chr2 241974013 241974013 G A rs200219556 SNED1 Nonsynonymous SNV R224H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 88374 chr2 242003078 242003078 C T rs374311632 SNED1 Nonsynonymous SNV R816W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 88375 chr2 135745618 135745618 G A rs867086972 MAP3K19 Nonsynonymous SNV P162L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.44 88376 chr2 242122076 242122076 C T PPP1R7 Synonymous SNV L264L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 88377 chr1 38079537 38079537 G A rs201102260 RSPO1 Nonsynonymous SNV P155L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 13.29 88378 chr1 38192844 38192844 C T rs562741164 EPHA10 Nonsynonymous SNV V568I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.48 88379 chr2 60688452 60688452 G A rs200811371 BCL11A Nonsynonymous SNV A498V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 22.7 88380 chr12 59280632 59280632 T C rs138577440 LRIG3 Nonsynonymous SNV M318V 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Likely benign 17.37 88381 chr1 39339164 39339164 G A rs41270781 LOC105378663 0 0 0.02 0 0 0 0 6 0 0 0 0 13.55 88382 chr2 115219702 115219702 T G rs7609142 DPP10 Stop gain L13X 0.057 0.049 0 19 67 19 0.049 0 1 0 0 0 3.404 88383 chr3 112357336 112357336 G A rs116307644 CCDC80 Nonsynonymous SNV H473Y 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 Benign 10.7 88384 chr2 55761064 55761064 C T rs377034476 CFAP36 Synonymous SNV H151H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.46 88385 chr14 31771635 31771635 G A rs377132147 HEATR5A Nonsynonymous SNV S1777L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 88386 chr3 112693652 112693652 A G rs143808865 CD200R1 Nonsynonymous SNV I18T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.786 88387 chr12 66563658 66563658 G A rs200879651 TMBIM4 Nonsynonymous SNV S25F 0.002 0 0 0 2 0 0 0 0 0 0 0 31 88388 chr2 142012161 142012161 C T rs151247276 LRP1B Nonsynonymous SNV M131I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.83 88389 chr2 144714901 144714901 A G rs758895540 GTDC1 Nonsynonymous SNV F202L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 88390 chr2 11964783 11964783 G C rs377362691 LPIN1 Nonsynonymous SNV D847H 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 32 88391 chr2 148716437 148716437 T G ORC4 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 88392 chr1 41327361 41327361 G A rs372533756 CITED4 Synonymous SNV L147L 0.006 0.003 0.007 7 7 1 0.018 2 0 0 0 0 14.37 88393 chr2 149818556 149818556 A C KIF5C Nonsynonymous SNV E347A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 88394 chr14 37180615 37180615 C T rs145395890 SLC25A21 Nonsynonymous SNV G171R 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 34 88395 chr2 242407666 242407666 G A rs749525881 FARP2 Nonsynonymous SNV V669I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.3 88396 chr14 39560749 39560749 C G rs770840374 SEC23A Nonsynonymous SNV G179R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 88397 chr1 43352894 43352894 C T rs6600427 LOC339539 0 0 0.044 0 0 0 0 13 0 0 6 0 6.26 88398 chr2 69049786 69049786 C T rs116278547 ARHGAP25 Synonymous SNV N498N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.206 88399 chr12 72307619 72307619 A G rs116878676 TBC1D15 Synonymous SNV G438G 0.011 0.013 0.017 3 13 5 0.008 5 0 0 0 0 6.315 88400 chr2 69098464 69098464 G A rs61741002 BMP10 Synonymous SNV C9C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.075 88401 chr2 25384408 25384408 G A rs34650613 POMC Synonymous SNV L116L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.361 88402 chr2 25470467 25470470 AATT - DNMT3A K183Tfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 88403 chr2 70439942 70439942 T C rs116621885 TIA1 Nonsynonymous SNV N281S 0.014 0.016 0 4 17 6 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.25 88404 chr3 119445181 119445181 G A rs75370053 MAATS1 Synonymous SNV E156E 0.012 0.016 0.017 2 14 6 0.005 5 0 0 0 0 11.03 88405 chr12 80083551 80083551 C T PAWR Synonymous SNV E158E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 88406 chr12 80672855 80672855 C G OTOGL Nonsynonymous SNV A937G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 88407 chr2 26702457 26702457 C T rs145589784 OTOF Synonymous SNV P659P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.269 88408 chr1 45923405 45923405 C T rs149714069 TESK2 Nonsynonymous SNV R18H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23.8 88409 chr1 46032543 46032543 G A rs41269113 AKR1A1 Synonymous SNV A69A 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 12.82 88410 chr2 27324663 27324663 C T rs142131430 CGREF1 Nonsynonymous SNV A146T 0.008 0 0.01 1 9 0 0.003 3 0 0 0 0 7.253 88411 chr2 74275002 74275002 G A TET3 Nonsynonymous SNV G560D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.562 88412 chr2 75116502 75116502 G A rs147555773 HK2 Nonsynonymous SNV A836T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 88413 chr12 86199740 86199740 T G RASSF9 Nonsynonymous SNV R16S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 88414 chr12 88444205 88444205 C T CEP290 Nonsynonymous SNV D2379N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.56 88415 chr1 47685569 47685569 G A rs144117146 TAL1 Synonymous SNV G114G 0.002 0.005 0.007 0 2 2 0 2 0 1 0 0 5.562 88416 chr14 53235651 53235651 G A rs147738274 STYX Nonsynonymous SNV G200S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 88417 chr12 94620411 94620411 G A rs114617018 PLXNC1 Synonymous SNV A607A 0.012 0.003 0.01 5 14 1 0.013 3 0 0 0 0 Benign 7.963 88418 chr2 29287813 29287813 C T rs199689791 PCARE Synonymous SNV L1263L 0.01 0.005 0.01 1 12 2 0.003 3 0 0 0 0 Benign 11.71 88419 chr12 97137880 97137880 A G rs148477724 CFAP54 Nonsynonymous SNV Y2547C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 88420 chr2 31423365 31423365 G T rs111554796 CAPN14 Synonymous SNV I226I 0.043 0.039 0.031 12 51 15 0.031 9 2 0 0 0 7.425 88421 chr3 126178539 126178539 T G ZXDC Nonsynonymous SNV Q723H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.74 88422 chr2 31570401 31570401 C T rs201855759 XDH Nonsynonymous SNV G1088E 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 27.5 88423 chr2 86831051 86831051 C A rs61760874 RNF103 Nonsynonymous SNV C658F 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 25.1 88424 chr2 32740443 32740443 G A rs373887626 BIRC6 Nonsynonymous SNV S3652N 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 10.37 88425 chr3 12650798 12650798 C T rs146709846 RAF1 Synonymous SNV A38A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.13 88426 chr3 126708351 126708351 G A rs139482007 PLXNA1 Synonymous SNV A305A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.382 88427 chr1 54293748 54293748 C T rs769789336 NDC1 Nonsynonymous SNV V127M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.29 88428 chr2 88926639 88926639 C T rs201593811 EIF2AK3 Nonsynonymous SNV A52T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign/Likely benign 9.326 88429 chr1 54610389 54610389 C G rs34826914 CDCP2 Synonymous SNV L59L 0.024 0.023 0.017 12 28 9 0.031 5 0 0 0 0 9.307 88430 chr2 44031852 44031852 G A rs142412169 DYNC2LI1 Nonsynonymous SNV V293M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.7 88431 chr1 54661262 54661262 C T rs11544199 CYB5RL Nonsynonymous SNV D10N 0.021 0.016 0.014 8 25 6 0.021 4 0 0 0 0 22.3 88432 chr2 9572712 9572712 C T CPSF3 Synonymous SNV I101I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.87 88433 chr3 128622922 128622922 G A rs115532916 ACAD9 Nonsynonymous SNV A326T 0.036 0.042 0.037 8 42 16 0.021 11 2 0 0 0 Conflicting interpretations of pathogenicity 34 88434 chr2 44190783 44190783 T C rs35035668 LRPPRC Nonsynonymous SNV T478A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 0.001 88435 chr2 9621479 9621479 G A rs182300993 IAH1 Synonymous SNV Q3Q 0.004 0.01 0.003 4 5 4 0.01 1 0 0 0 0 10.81 88436 chr2 97215969 97215969 G A rs527297096 ARID5A Synonymous SNV G173G 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 13.54 88437 chr2 170506861 170506861 A G rs556730527 CCDC173 Nonsynonymous SNV I377T 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 26.9 88438 chr1 55282721 55282721 G C rs150463971 LEXM Synonymous SNV R370R 0.014 0.013 0.017 6 16 5 0.015 5 0 0 0 0 5.809 88439 chr2 99013570 99013570 G A rs141577844 CNGA3 Nonsynonymous SNV R628H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 88440 chr1 57161694 57161694 A T rs151323778 PRKAA2 Nonsynonymous SNV E217V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 29.9 88441 chr1 57207874 57207874 C T rs138668500 FYB2 Nonsynonymous SNV E522K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 26.9 88442 chr2 175446141 175446141 A G rs35923393 WIPF1 Synonymous SNV N26N 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 6.29 88443 chr3 130293212 130293212 C A COL6A6 Synonymous SNV I1130I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.64 88444 chr2 44502800 44502800 C G SLC3A1 Nonsynonymous SNV D42E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.321 88445 chr14 65009319 65009319 C T rs369612717 HSPA2 Synonymous SNV L584L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.29 88446 chr3 130380990 130380990 G T rs201546062 COL6A6 Nonsynonymous SNV A2114S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 88447 chr1 61554048 61554048 C T rs41289414 NFIA Synonymous SNV P85P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.2 88448 chr2 46607653 46607653 A G rs140658966 EPAS1 Synonymous SNV K614K 0.005 0 0 0 6 0 0 0 0 0 0 0 0.003 88449 chr1 62119978 62119978 C G rs10789097 MGC34796 0 0 0.173 0 0 0 0 51 0 0 25 0 6.512 88450 chr2 179257242 179257242 C T rs148781023 OSBPL6 Synonymous SNV D819D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.57 88451 chr2 179360264 179360264 C T rs61729159 PLEKHA3 Synonymous SNV N164N 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 12.22 88452 chr3 107466840 107466840 C T rs150121801 BBX Nonsynonymous SNV A260V 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 Benign 11.23 88453 chr1 62582235 62582235 G A rs200722945 PATJ Nonsynonymous SNV V1563M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 88454 chr2 61304154 61304154 T A KIAA1841 Synonymous SNV A31A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 88455 chr2 179427688 179427688 A C rs201896662 TTN Nonsynonymous SNV V18659G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.1 88456 chr2 61493225 61493225 T A rs113399084 USP34 Synonymous SNV S1837S 0.019 0.023 0.017 6 22 9 0.015 5 1 0 0 0 9.23 88457 chr1 63018564 63018564 C T rs201823761 DOCK7 Nonsynonymous SNV G869S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.1 88458 chr2 179468704 179468704 A G rs201412693 TTN Nonsynonymous SNV L9172P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.56 88459 chr2 55096407 55096407 A G EML6 Nonsynonymous SNV N714S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.82 88460 chr12 113645560 113645560 T C rs750486898 IQCD Nonsynonymous SNV K138E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.8 88461 chr2 175436953 175436953 T A WIPF1 Nonsynonymous SNV I194F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 88462 chr2 176965359 176965359 C T rs200878101 HOXD12 Synonymous SNV N228N 0.009 0.013 0.01 4 10 5 0.01 3 0 0 0 0 9.074 88463 chr3 113022889 113022889 G A rs185086524 CFAP44 Nonsynonymous SNV R1651W 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Benign 24.1 88464 chr2 71062629 71062629 G A rs201227431 CD207 Synonymous SNV A61A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.798 88465 chr2 179642162 179642162 T C rs72647877 TTN Nonsynonymous SNV I1498V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign/Likely benign 13.03 88466 chr14 75388056 75388056 G A rs368777543 RPS6KL1 Synonymous SNV R63R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.1 88467 chr3 113786881 113786881 C T rs142830266 QTRT2 Nonsynonymous SNV P114S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.79 88468 chr14 75576444 75576444 C T rs370474070 NEK9 Nonsynonymous SNV A376T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.8 88469 chr2 179429301 179429301 A G rs56181243 TTN Synonymous SNV N18121N 0.004 0.005 0 10 5 2 0.026 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.052 88470 chr3 142074260 142074260 G A rs201638869 XRN1 Nonsynonymous SNV P1251S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.538 88471 chr2 71360418 71360418 G A rs115136870 MPHOSPH10 Synonymous SNV L160L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 7.094 88472 chr2 70408591 70408591 G A rs148471734 C2orf42 Nonsynonymous SNV P176L 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Uncertain significance 20.4 88473 chr2 179605380 179605380 T A rs34618570 TTN Nonsynonymous SNV I3831F 0.004 0.005 0 10 5 2 0.026 0 0 0 0 0 Benign/Likely benign 2.54 88474 chr2 182780126 182780126 G A rs78774163 ITPRID2 Nonsynonymous SNV D434N 0.013 0.034 0.014 5 15 13 0.013 4 0 1 0 0 22.5 88475 chr3 14755571 14755571 C T rs771153593 C3orf20 Synonymous SNV T284T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 12.68 88476 chr12 121648031 121648031 C T rs139621763 P2RX4 Nonsynonymous SNV L22F 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 27.9 88477 chr2 71148281 71148281 C T rs145801795 VAX2 Nonsynonymous SNV R101W 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 35 88478 chr2 71148395 71148395 C A rs56075602 VAX2 Nonsynonymous SNV L139M 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 26.8 88479 chr2 179643711 179643711 G A rs760223250 TTN Synonymous SNV A1320A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.27 88480 chr2 73959291 73959291 T C TPRKB Nonsynonymous SNV N88S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 88481 chr1 78958457 78958457 T C rs115647706 PTGFR Nonsynonymous SNV V10A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 88482 chr2 74592226 74592226 T A DCTN1 Nonsynonymous SNV T924S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.59 88483 chr2 186670346 186670346 A T FSIP2 Nonsynonymous SNV Q5438L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 88484 chr2 84886244 84886244 C A rs199962095 DNAH6 Nonsynonymous SNV S2012Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.2 88485 chr2 85779050 85779050 G A rs41290033 GGCX Synonymous SNV R441R 0.013 0.013 0.024 4 15 5 0.01 7 0 1 0 0 Uncertain significance 7.656 88486 chr1 86904620 86904620 T C rs140487135 CLCA2 Nonsynonymous SNV I345T 0 0 0.007 0 0 0 0 2 0 0 0 0 7.562 88487 chr12 124102356 124102356 C T rs142573698 DDX55 Synonymous SNV S367S 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 16.61 88488 chr12 124171417 124171417 G A rs79251326 TCTN2 Nonsynonymous SNV R199Q 0.007 0.003 0.014 1 8 1 0.003 4 0 0 0 0 Benign/Likely benign 0.002 88489 chr1 86965665 86965665 T C rs138890997 CLCA1 Synonymous SNV P894P 0 0 0.01 0 0 0 0 3 0 0 0 0 6.908 88490 chr2 74685776 74685776 C T rs760204745 WBP1 Nonsynonymous SNV A16V 0.009 0.01 0 0 11 4 0 0 0 0 0 0 23.6 88491 chr3 124385365 124385365 A G KALRN Nonsynonymous SNV M409V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.235 88492 chr1 89728467 89728467 G T GBP5 Nonsynonymous SNV A455D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 88493 chr3 159943933 159943933 G C C3orf80 Nonsynonymous SNV G171R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.611 88494 chr3 123046573 123046573 G A rs75364088 ADCY5 Synonymous SNV Y263Y 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 8.312 88495 chr2 187626344 187626344 G A rs61746720 FAM171B Synonymous SNV S425S 0.023 0.026 0.014 12 27 10 0.031 4 0 0 0 0 9.023 88496 chr12 125609446 125609446 A G AACS 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 88497 chr3 126137556 126137556 G A rs149511023 CFAP100 Nonsynonymous SNV A197T 0.012 0.01 0.01 3 14 4 0.008 3 0 0 1 0 19.14 88498 chr12 130827196 130827196 G A rs374386771 PIWIL1 Synonymous SNV Q20Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.128 88499 chr12 130839516 130839516 C T rs35540071 PIWIL1 Nonsynonymous SNV R419C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 88500 chr2 190647244 190647244 A G rs375154357 ORMDL1 Synonymous SNV Y26Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.005 88501 chr3 12776291 12776291 C A rs78560646 TMEM40 Synonymous SNV G152G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.173 88502 chr3 12791259 12791259 A G TMEM40 Nonsynonymous SNV Y41H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.001 88503 chr3 179460012 179460012 A G USP13 Nonsynonymous SNV S470G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 88504 chr1 93652057 93652057 A G rs199719529 CCDC18 Synonymous SNV A153A 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 9.098 88505 chr1 94508983 94508983 C T rs772300002 ABCA4 Synonymous SNV K1033K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 88506 chr2 197595667 197595667 C A rs368280366 CCDC150 Nonsynonymous SNV Q366K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.7 88507 chr14 102466430 102466430 G A rs34690489 DYNC1H1 Synonymous SNV A1303A 0.008 0.013 0.01 8 9 5 0.021 3 0 0 0 0 Benign/Likely benign 15.12 88508 chr3 10328453 10328453 T A rs4684677 GHRL Nonsynonymous SNV Q39L 0.036 0.039 0.041 12 42 15 0.031 12 0 0 1 1 risk factor 26.4 88509 chr14 102510286 102510286 C T rs749876358 DYNC1H1 Synonymous SNV Y4196Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.352 88510 chr14 102514296 102514296 C T rs375767483 DYNC1H1 Synonymous SNV T4383T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 18.51 88511 chr1 96488369 96488369 T C rs12117227 LINC02790 0 0 0.037 0 0 0 0 11 0 0 0 0 4.018 88512 chr3 129221593 129221593 C T rs61744218 IFT122 Synonymous SNV R694R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 16.19 88513 chr3 129267915 129267915 T C rs60616647 H1-8 Synonymous SNV G11G 0.007 0.013 0.014 1 8 5 0.003 4 0 0 1 0 0.137 88514 chr2 97637975 97637975 C T rs770825809 FAM178B Nonsynonymous SNV R76H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.47 88515 chr3 183823141 183823141 G A rs115516419 HTR3E Nonsynonymous SNV E242K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.5 88516 chr14 103969503 103969503 C T rs201508144 MARK3 Nonsynonymous SNV S694L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 25.3 88517 chr2 20867332 20867332 C T rs140362230 GDF7 Synonymous SNV S111S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.2 88518 chr1 99161184 99161184 C A rs35391040 SNX7 Nonsynonymous SNV F195L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 27.4 88519 chr14 104433097 104433097 A G rs142035530 TDRD9 Nonsynonymous SNV T232A 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign 25 88520 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTT SKA3 0.002 0 0 0 2 0 0 0 0 0 0 0 88521 chr3 110852879 110852879 G A rs758973451 NECTIN3 Synonymous SNV E489E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.924 88522 chr3 132337554 132337554 G A rs142318482 ACAD11 Synonymous SNV H446H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.302 88523 chr20 1161994 1161994 C A rs145786492 TMEM74B Nonsynonymous SNV G66V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.223 88524 chr3 130383937 130383937 G A rs202169366 COL6A6 Nonsynonymous SNV R2198Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.474 88525 chr3 130733134 130733134 G A rs771866089 ASTE1 Nonsynonymous SNV L603F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 88526 chr2 203680632 203680632 A G rs149686236 ICA1L 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 26.1 88527 chr3 132408032 132408032 G A rs116174472 NPHP3 Synonymous SNV F923F 0.005 0.01 0 0 6 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 88528 chr3 132441046 132441046 C T rs145643112 NPHP3 Nonsynonymous SNV A52T 0.007 0.01 0.01 2 8 4 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 5.688 88529 chr20 13140720 13140720 G A rs61738161 SPTLC3 Nonsynonymous SNV A496T 0.02 0.01 0.02 13 24 4 0.033 6 0 0 0 0 19.95 88530 chr2 21224843 21224843 G A rs12713450 APOB Nonsynonymous SNV T4484M 0.008 0.008 0.017 3 9 3 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 4.574 88531 chr3 10387772 10387772 C T rs141909007 ATP2B2 Synonymous SNV T773T 0.003 0.013 0 0 4 5 0 0 0 0 0 0 18.68 88532 chr3 133342192 133342192 C T rs61758061 TOPBP1 Nonsynonymous SNV R1008Q 0.003 0.016 0.003 3 3 6 0.008 1 0 0 0 0 9.348 88533 chr2 21229905 21229905 T C rs12720854 APOB Nonsynonymous SNV S3279G 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.054 88534 chr3 186445048 186445048 G A rs144123648 KNG1 Nonsynonymous SNV R196Q 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 0.025 88535 chr20 15874227 15874227 A T rs8118541 LOC613266 0 0 0.102 0 0 0 0 30 0 0 2 0 0.799 88536 chr20 15874488 15874488 G A rs6135591 LOC613266 0 0 0.116 0 0 0 0 34 0 0 2 0 5.923 88537 chr20 15874715 15874715 T C rs6034319 LOC613266 0 0 0.099 0 0 0 0 29 0 0 1 0 0.96 88538 chr3 186505222 186505225 TTGA - rs559260308 SNORA63 0 0.003 0 0 0 1 0 0 0 0 0 0 88539 chr3 13395539 13395539 G A rs202061472 NUP210 Synonymous SNV F799F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.37 88540 chr3 186572352 186572352 C T rs72563732 ADIPOQ Synonymous SNV S198S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 88541 chr3 113115477 113115477 C A CFAP44 Nonsynonymous SNV G556V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.7 88542 chr13 28130473 28130473 G A rs115119970 LNX2 Synonymous SNV T482T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 14.95 88543 chr2 20870258 20870258 G A rs142753352 GDF7 Synonymous SNV L142L 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 13.84 88544 chr20 18143135 18143135 G A rs373222003 KAT14 Nonsynonymous SNV G406D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 88545 chr2 218686486 218686486 G A rs374099297 TNS1 Synonymous SNV S1058S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.18 88546 chr15 24922982 24922982 G A rs141727813 NPAP1 Synonymous SNV P656P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.939 88547 chr3 119177047 119177047 C T TMEM39A Nonsynonymous SNV A52T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 88548 chr3 142729683 142729683 T G U2SURP Synonymous SNV S24S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.26 88549 chr2 219677744 219677744 A T CYP27A1 Nonsynonymous SNV L314F 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 21.7 88550 chr3 119109743 119109743 G A rs757724432 ARHGAP31 Nonsynonymous SNV R265H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.5 88551 chr3 150140860 150140860 A G rs145029975 TSC22D2 Synonymous SNV Q661Q 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 1.112 88552 chr3 121351201 121351201 A G rs774760183 HCLS1 Synonymous SNV S369S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 88553 chr20 2559827 2559827 C T rs13039110 TMC2 Synonymous SNV F227F 0.005 0.016 0.014 2 6 6 0.005 4 0 1 0 0 9.056 88554 chr2 220161052 220161052 C T rs141500290 PTPRN Nonsynonymous SNV G773S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 34 88555 chr13 39587976 39587976 C T rs61740032 PROSER1 Synonymous SNV A449A 0.011 0.008 0.007 4 13 3 0.01 2 0 0 0 0 13.26 88556 chr20 29891069 29891069 G A rs552225179 DEFB116 Synonymous SNV Y85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.071 88557 chr3 119451244 119451244 T A rs140246285 MAATS1 Synonymous SNV P248P 0.007 0 0 2 8 0 0.005 0 0 0 0 0 8.553 88558 chr20 30753206 30753206 A G rs768162607 TM9SF4 Nonsynonymous SNV M613V 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 14.75 88559 chr3 151045832 151045832 C A rs145063671 P2RY13 Nonsynonymous SNV A338S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.002 88560 chr2 218747073 218747073 A C rs11680854 TNS1 Nonsynonymous SNV I311M 0.011 0.013 0.01 11 13 5 0.028 3 0 0 0 0 23.9 88561 chr2 218999982 218999982 G A rs55799208 CXCR2 Nonsynonymous SNV R153H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Uncertain significance 25 88562 chr2 219082200 219082200 C T rs144937426 ARPC2 Synonymous SNV L3L 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 17.01 88563 chr2 220423945 220423945 A G rs977217365 OBSL1 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 24.5 88564 chr2 219320402 219320402 G A rs780874508 USP37 Nonsynonymous SNV A918V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 88565 chr3 15469367 15469367 G T rs77636884 EAF1 Synonymous SNV R27R 0.011 0.01 0.014 7 13 4 0.018 4 0 0 0 0 10.34 88566 chr3 154889977 154889977 A G rs191264116 MME Synonymous SNV Q684Q 0 0.003 0 5 0 1 0.013 0 0 0 0 0 8.9 88567 chr3 123166640 123166640 G A rs56194151 ADCY5 Synonymous SNV L251L 0.014 0.003 0.003 1 16 1 0.003 1 2 0 0 0 11.39 88568 chr3 123471208 123471208 G A rs146921745 MYLK Nonsynonymous SNV R115C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 88569 chr20 33578251 33578251 A G rs3746444 MIR499A, MIR499B 0 0 0.241 0 0 0 0 71 0 0 12 0 15.2 88570 chr3 122288506 122288506 C T rs147920805 DTX3L Nonsynonymous SNV H524Y 0.004 0 0 3 5 0 0.008 0 0 0 0 0 6.064 88571 chr2 224828496 224828496 T A rs75696641 MRPL44 Synonymous SNV T224T 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 13.01 88572 chr2 227958857 227958857 G A rs199511948 COL4A4 Synonymous SNV G451G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 8.869 88573 chr13 52508979 52508979 C T rs73202048 ATP7B Synonymous SNV K1230K 0.009 0.008 0.01 2 11 3 0.005 3 0 0 0 0 Benign/Likely benign 10.57 88574 chr2 228173636 228173636 A G rs77964815 COL4A3 Nonsynonymous SNV Q1495R 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 Benign/Likely benign 13.09 88575 chr2 228855993 228855993 C T rs61752221 SPHKAP Nonsynonymous SNV E1562K 0.011 0.016 0.01 5 13 6 0.013 3 0 0 1 0 Benign 21.6 88576 chr15 41624728 41624728 C T rs370713618 OIP5 Nonsynonymous SNV R11H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.02 88577 chr20 35075339 35075339 G A rs145541855 DLGAP4 Synonymous SNV P549P 0.007 0.003 0.014 0 8 1 0 4 0 0 0 0 7.535 88578 chr3 36897930 36897930 G A rs116831129 TRANK1 Nonsynonymous SNV H1051Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 88579 chr3 167508198 167508198 G A rs61750375 SERPINI1 Nonsynonymous SNV V97I 0.015 0.016 0.014 2 18 6 0.005 4 1 0 0 0 Benign/Likely benign 0.024 88580 chr3 37070325 37070325 G A rs587778917 MLH1 Nonsynonymous SNV R129Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.64 88581 chr3 126749151 126749151 A C rs373848509 PLXNA1 Synonymous SNV S1709S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.394 88582 chr20 36952442 36952442 T A rs772165542 BPI Nonsynonymous SNV D313E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.018 88583 chr3 172835497 172835497 A G rs150041488 SPATA16 Synonymous SNV L9L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.801 88584 chr3 12545012 12545012 G C rs146117200 TSEN2 Nonsynonymous SNV R187P 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.63 88585 chr13 79175688 79175688 G A rs147924260 POU4F1 Synonymous SNV F374F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.81 88586 chr3 12573152 12573152 A G rs113981920 TSEN2 Synonymous SNV K418K 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.072 88587 chr3 129268116 129268116 - C rs887051869 H1-8 Frameshift insertion K81Qfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 88588 chr3 178785461 178785461 G T rs376703257 ZMAT3 Nonsynonymous SNV S27Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.5 88589 chr3 39149018 39149018 G A rs368760988 GORASP1 Synonymous SNV V5V 0.011 0.01 0.007 0 13 4 0 2 0 0 0 0 7.032 88590 chr2 223161862 223161862 G C rs28945092 PAX3 Synonymous SNV P52P 0.002 0.016 0 1 2 6 0.003 0 0 0 0 0 Benign 9.103 88591 chr2 223161892 223161892 G T rs369680052 PAX3 Synonymous SNV G42G 0.002 0.016 0 1 2 6 0.003 0 0 0 0 0 Benign 12.26 88592 chr2 223168695 223168695 A G rs78030705 CCDC140 0.002 0.018 0 1 2 7 0.003 0 0 0 0 0 0.002 88593 chr20 43836872 43836872 A C rs2233886 SEMG1 Nonsynonymous SNV S312R 0.02 0.016 0.007 6 24 6 0.015 2 0 0 0 0 0.003 88594 chr20 43836896 43836898 GAG - SEMG1 E320del 0 0 0.003 0 0 0 0 1 0 0 0 0 88595 chr3 41266689 41266689 C T rs5743392 CTNNB1 Synonymous SNV D162D 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.93 88596 chr3 41953145 41953145 G A rs201224884 ULK4 Synonymous SNV N301N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.303 88597 chr15 43531108 43531108 G T rs144961145 TGM5 Nonsynonymous SNV Q336K 0.004 0.013 0 4 5 5 0.01 0 0 0 0 0 Uncertain significance 6.123 88598 chr3 130699469 130699469 A G rs200047787 ATP2C1 Synonymous SNV S590S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.894 88599 chr3 184062664 184062664 C T rs144826588 FAM131A Nonsynonymous SNV T251M 0.005 0.005 0 3 6 2 0.008 0 1 0 0 0 0.381 88600 chr20 46279836 46279836 - CAG rs749671759 NCOA3 Q1275_T1276insQ 0 0 0.007 0 0 0 0 2 0 0 0 0 88601 chr20 46385955 46385955 C T rs61730618 SULF2 Synonymous SNV T51T 0.015 0.013 0.01 4 18 5 0.01 3 0 0 0 0 18.54 88602 chr13 103441528 103441528 C T rs36094126 POGLUT2 Nonsynonymous SNV R376H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 88603 chr15 48591430 48591430 G A rs201501478 SLC12A1 Synonymous SNV P1018P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.507 88604 chr3 188327155 188327155 G A rs749902032 LPP Synonymous SNV T212T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 8.401 88605 chr3 186330992 186330992 A T AHSG Nonsynonymous SNV H21L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 88606 chr13 108861041 108861041 C A rs781089675 LIG4 Nonsynonymous SNV G859V 0.004 0 0 0 5 0 0 0 0 0 0 0 23.2 88607 chr20 47888096 47888096 C T rs142430147 ZNFX1 Nonsynonymous SNV E85K 0.001 0 0.01 0 1 0 0 3 0 0 0 0 13.82 88608 chr15 51742530 51742530 G A rs145628830 DMXL2 Synonymous SNV H2263H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.9 88609 chr3 135745762 135745762 C T rs9826032 PPP2R3A Nonsynonymous SNV P74L 0.005 0.003 0.017 5 6 1 0.013 5 0 0 0 0 21.8 88610 chr20 49225852 49225852 G A rs775097185 RIPOR3 Synonymous SNV G206G 0 0 0.007 0 0 0 0 2 0 0 0 0 14.26 88611 chr3 45636797 45636797 G C rs756887459 LIMD1 Nonsynonymous SNV R142S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.635 88612 chr20 50133431 50133431 G A rs41307211 NFATC2 Synonymous SNV Y388Y 0.013 0.003 0.003 3 15 1 0.008 1 0 0 0 0 Benign 1.097 88613 chr3 187446269 187446269 C T rs149258247 BCL6 Synonymous SNV P473P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.11 88614 chr3 193332567 193332567 C T rs185976555 OPA1 Synonymous SNV L30L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.12 88615 chr20 5170841 5170841 C T rs138757559 CDS2 Synonymous SNV I433I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 88616 chr15 53080998 53080998 T C rs747039620 ONECUT1 Nonsynonymous SNV M362V 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 24.4 88617 chr20 51871432 51871432 G A rs188447984 TSHZ2 Nonsynonymous SNV V476M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.27 88618 chr2 239157721 239157721 G A rs35873326 PER2 Synonymous SNV P1200P 0.03 0.01 0.044 8 35 4 0.021 13 0 0 0 0 10.07 88619 chr2 239162318 239162318 G A rs10195959 PER2 Synonymous SNV S782S 0.023 0.01 0.041 6 27 4 0.015 12 0 0 0 0 11.57 88620 chr20 55206359 55206359 T G rs759209423 TFAP2C Synonymous SNV T49T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.129 88621 chr2 239261582 239261582 A G rs760002620 TRAF3IP1 Synonymous SNV E456E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.372 88622 chr3 193025124 193025124 C T rs758626416 ATP13A5 Nonsynonymous SNV D854N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 88623 chr15 56387034 56387034 - GGGGTT rs766009038 RFX7 T868_S869insPT 0.002 0 0 0 2 0 0 0 0 0 0 0 88624 chr15 56388607 56388607 C G rs765096097 RFX7 Nonsynonymous SNV S343T 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 20.4 88625 chr3 140406890 140406890 G A rs112034444 TRIM42 Nonsynonymous SNV G456S 0.006 0.008 0.017 5 7 3 0.013 5 0 0 0 0 15.15 88626 chr3 141682750 141682750 T C rs61756224 TFDP2 Nonsynonymous SNV Q127R 0.005 0 0.007 0 6 0 0 2 0 0 0 0 6.101 88627 chr3 47018209 47018209 G T rs751495079 CCDC12 Nonsynonymous SNV T5K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.052 88628 chr20 56793763 56793763 C T rs536889017 ANKRD60 Nonsynonymous SNV G276R 0.018 0.005 0.003 5 21 2 0.013 1 0 0 0 0 26.4 88629 chr3 47957530 47957530 T G MAP4 Nonsynonymous SNV Q596P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 88630 chr3 148599387 148599387 A G rs767456762 CPA3 Nonsynonymous SNV N219D 0.001 0 0 0 1 0 0 0 0 0 0 0 29 88631 chr15 59500961 59500961 C T rs144637775 MYO1E Synonymous SNV Q483Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 13.46 88632 chr15 59910722 59910722 A T rs200730703 GCNT3 Synonymous SNV R95R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 88633 chr15 63053928 63053928 G A rs765463024 TLN2 Nonsynonymous SNV A1563T 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 23 88634 chr3 150281340 150281340 C T rs181238642 EIF2A Nonsynonymous SNV L86F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 88635 chr3 150903122 150903122 G A rs16863238 MED12L Synonymous SNV A500A 0.015 0 0.01 7 18 0 0.018 3 1 0 0 0 9.32 88636 chr3 148552355 148552355 C G rs755021718 CPB1 Nonsynonymous SNV A73G 0.004 0 0 0 5 0 0 0 0 0 0 0 19.31 88637 chr3 150916327 150916327 T C rs3732756 GPR171 Nonsynonymous SNV I283V 0.015 0 0.007 7 18 0 0.018 2 1 0 0 0 9.686 88638 chr3 151154509 151154509 C T rs112889898 IGSF10 Nonsynonymous SNV D641N 0.009 0.005 0.01 4 11 2 0.01 3 0 0 0 0 Benign 28.5 88639 chr20 60902965 60902965 G A rs74781811 LAMA5 Nonsynonymous SNV A1585V 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 3.932 88640 chr3 151599161 151599161 A T rs766683190 SUCNR1 Nonsynonymous SNV Y277F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.52 88641 chr20 6096550 6096550 C T rs137862671 FERMT1 Nonsynonymous SNV R98H 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Likely benign 28 88642 chr3 3143404 3143404 C T rs145682391 IL5RA Stop gain W113X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 37 88643 chr3 51975479 51975479 G A RRP9 Nonsynonymous SNV S39F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 88644 chr14 21462140 21462140 T G rs781343851 METTL17 Nonsynonymous SNV S205R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 88645 chr2 241451385 241451385 T C ANKMY1 Nonsynonymous SNV N497D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.79 88646 chr2 24531598 24531598 T C rs79087404 ITSN2 Synonymous SNV S227S 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 9.471 88647 chr2 241465785 241465785 G A rs192708554 ANKMY1 Nonsynonymous SNV P255L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.9 88648 chr2 25179912 25179912 C T rs150189609 DNAJC27 Synonymous SNV Q176Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.2 88649 chr3 15300655 15300655 A G rs9813606 SH3BP5-AS1 0.019 0.01 0.02 5 22 4 0.013 6 0 0 0 0 5.28 88650 chr3 52469846 52469846 T C rs757185508 SEMA3G Nonsynonymous SNV K708E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 88651 chr2 26500011 26500011 A G rs747820768 HADHB Nonsynonymous SNV N127S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 88652 chr20 61880176 61880176 G A rs138254796 NKAIN4 Synonymous SNV G26G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.169 88653 chr3 38087165 38087165 C T rs139958483 DLEC1 Synonymous SNV S181S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 8.253 88654 chr20 61917432 61917432 C T rs758515457 ARFGAP1 Nonsynonymous SNV T312M 0 0 0.007 0 0 0 0 2 0 0 0 0 1.791 88655 chr20 61939333 61939333 G A rs201264923 COL20A1 Synonymous SNV Q222Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 1.435 88656 chr3 38163900 38163900 C T rs144424576 DLEC1 Nonsynonymous SNV P1714L 0.01 0.016 0.003 5 12 6 0.013 1 0 0 0 0 8.757 88657 chr3 168834174 168834174 G C MECOM Nonsynonymous SNV P308A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 88658 chr3 37151157 37151157 T C rs36068826 LRRFIP2 Nonsynonymous SNV Y153C 0.038 0.034 0.048 7 45 13 0.018 14 1 0 0 1 13.48 88659 chr3 53810977 53810977 G A rs767677153 CACNA1D Synonymous SNV A1512A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.326 88660 chr3 167083673 167083673 C G rs184708397 ZBBX 0.007 0.003 0 0 8 1 0 0 0 0 0 0 24.3 88661 chr2 27465270 27465270 A T CAD Nonsynonymous SNV E2003V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 88662 chr2 27566277 27566277 C T rs147479583 GTF3C2 Nonsynonymous SNV V49I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 88663 chr3 170723846 170723846 G A rs5405 SLC2A2 Synonymous SNV L102L 0.009 0 0 2 10 0 0.005 0 0 0 0 0 Benign/Likely benign 1.641 88664 chr3 170824990 170824990 G A rs904617 TNIK Synonymous SNV Y712Y 0.013 0.016 0.024 2 15 6 0.005 7 0 0 0 0 5.128 88665 chr3 180397160 180397160 G A rs540762763 CCDC39 Synonymous SNV S3S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.03 88666 chr2 27838058 27838058 C G rs11127071 ZNF512 Synonymous SNV L356L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 10.08 88667 chr2 27844029 27844029 G A rs201647456 ZNF512 Nonsynonymous SNV V440I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 22.7 88668 chr2 27730894 27730894 A C GCKR Nonsynonymous SNV N431H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 88669 chr15 75704005 75704005 G A rs61761938 SIN3A Nonsynonymous SNV P279L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 23.5 88670 chr2 28827533 28827533 C T rs146023795 PLB1 Synonymous SNV R945R 0.033 0.031 0.024 15 39 12 0.038 7 1 0 0 1 Benign 13 88671 chr2 29249854 29249854 A T rs374966859 TOGARAM2 Synonymous SNV A472A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.634 88672 chr14 24836349 24836349 A T rs745789485 NFATC4 Nonsynonymous SNV H30L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.626 88673 chr3 62357961 62357961 G A FEZF2 Nonsynonymous SNV L195F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 88674 chr14 24845630 24845630 C A NFATC4 Nonsynonymous SNV D729E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 88675 chr3 180321031 180321031 A G rs754307306 TTC14 Nonsynonymous SNV I136V 0.003 0 0 0 4 0 0 0 0 0 0 0 15.55 88676 chr21 15646405 15646405 C A rs2236001 ABCC13 0 0 0.095 0 0 0 0 28 0 0 4 0 6.314 88677 chr3 184008959 184008959 G A rs138732933 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV G627S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 88678 chr15 78807392 78807392 C T rs200087101 HYKK Synonymous SNV S140S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.295 88679 chr21 19715947 19715947 T C rs61735771 TMPRSS15 Nonsynonymous SNV H435R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 15.33 88680 chr3 69230592 69230592 T G rs148389023 FRMD4B Nonsynonymous SNV N770T 0.005 0.003 0.014 4 6 1 0.01 4 0 0 0 0 2.839 88681 chr2 31602841 31602841 G T XDH Synonymous SNV G378G 0.001 0.003 0 8 1 1 0.021 0 0 0 0 0 5.083 88682 chr2 32640396 32640396 A G rs34417238 BIRC6 Synonymous SNV L679L 0.013 0.01 0.007 16 15 4 0.041 2 0 0 0 0 4.751 88683 chr21 28214255 28214255 C A rs200977557 ADAMTS1 Nonsynonymous SNV V378L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 88684 chr14 31030021 31030021 T G rs7156057 G2E3-AS1 0.003 0 0.014 1 4 0 0.003 4 0 0 0 0 2.926 88685 chr2 32735633 32735633 C G rs61754198 BIRC6 Synonymous SNV L3426L 0.016 0.016 0.017 17 19 6 0.044 5 0 0 0 0 Benign 12.31 88686 chr2 33036137 33036137 G A rs147021005 TTC27 Nonsynonymous SNV R632Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.85 88687 chr3 184922231 184922231 G A rs370789385 EHHADH Nonsynonymous SNV R199W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 88688 chr2 37105041 37105041 G A rs77353404 STRN Nonsynonymous SNV T439I 0.012 0.005 0.014 4 14 2 0.01 4 1 0 0 0 22.8 88689 chr3 186392940 186392940 G A rs201536659 HRG Synonymous SNV P234P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 4.98 88690 chr2 38301831 38301831 G A rs375391843 CYP1B1 Nonsynonymous SNV T234M 0.003 0.005 0.003 6 4 2 0.015 1 0 0 0 0 Uncertain significance 29.8 88691 chr2 38908465 38908465 C T rs561652582 GALM Nonsynonymous SNV S130L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 17.24 88692 chr2 39006144 39006144 G A rs376044156 GEMIN6 Stop gain W4X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 88693 chr14 38151970 38151970 A G TTC6 Nonsynonymous SNV H369R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 88694 chr2 39982469 39982469 C T rs754201186 THUMPD2 Synonymous SNV E114E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.76 88695 chr14 38724346 38724346 C T rs144490241 CLEC14A Synonymous SNV P294P 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 15.56 88696 chr2 42580443 42580443 - TGAT COX7A2L Frameshift insertion I35Nfs*8 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 88697 chr2 42980527 42980527 T C MTA3 Synonymous SNV C527C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 5.698 88698 chr3 192516430 192516430 C T rs3732388 MB21D2 Synonymous SNV P407P 0.012 0.021 0.02 3 14 8 0.008 6 0 0 1 0 10.66 88699 chr2 43520188 43520188 C T rs781420465 THADA Nonsynonymous SNV G1535R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.461 88700 chr3 193052769 193052769 G A rs74437357 ATP13A5 Stop gain Q355X 0.017 0.016 0.017 2 20 6 0.005 5 1 0 0 0 Likely benign 39 88701 chr21 35987252 35987260 GCCGCCTCC - rs774268988 RCAN1 A20_A22del 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 88702 chr3 188477926 188477926 C T rs371459082 LPP Synonymous SNV N275N 0.003 0 0 0 4 0 0 0 0 0 0 0 14.95 88703 chr14 45605463 45605463 A G rs61746895 FANCM Nonsynonymous SNV T77A 0.01 0.026 0.007 7 12 10 0.018 2 0 0 0 0 Benign/Likely benign 0.001 88704 chr14 45669205 45669205 T C rs8018014 FANCM Synonymous SNV D2021D 0.009 0.026 0.003 7 11 10 0.018 1 0 0 0 0 Benign 0.165 88705 chr14 45693239 45693239 C G rs34402741 MIS18BP1 Nonsynonymous SNV E851Q 0.009 0.029 0.007 8 11 11 0.021 2 0 0 0 0 0.648 88706 chr2 46707674 46707674 C T rs116983452 TMEM247 Nonsynonymous SNV A83V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.64 88707 chr3 48613683 48613683 G A rs149267939 COL7A1 Nonsynonymous SNV P1940L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.23 88708 chr2 47168838 47168838 G C rs117017326 TTC7A Nonsynonymous SNV S53T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.136 88709 chr2 46228591 46228591 A G PRKCE Nonsynonymous SNV N291S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 88710 chr2 47656972 47656972 C T rs17224367 MSH2 Nonsynonymous SNV L390F 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Benign 24.3 88711 chr21 40250361 40250361 - AAA rs11464500 LOC400867 0 0 0.153 0 0 0 0 45 0 0 4 0 88712 chr2 47643457 47643457 G A rs4987188 MSH2 Nonsynonymous SNV G322D 0.016 0.018 0.01 6 19 7 0.015 3 0 0 0 0 Benign 22.6 88713 chr14 50789388 50789388 G A rs111717108 DMAC2L Synonymous SNV A89A 0.003 0 0 0 4 0 0 0 0 0 0 0 10.3 88714 chr15 89390559 89390559 G A rs34957282 ACAN Synonymous SNV A505A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 9.903 88715 chr15 89390574 89390574 G A rs34637731 ACAN Synonymous SNV P510P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 1.216 88716 chr3 49688155 49688155 C T rs139787101 BSN Synonymous SNV A543A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 14.48 88717 chr15 89391256 89391256 A G rs57669733 ACAN Synonymous SNV V573V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 2.691 88718 chr21 40686517 40686517 G A rs186970062 BRWD1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 8.838 88719 chr21 40686521 40686521 C T rs1888488 BRWD1-AS2 0 0 0.044 0 0 0 0 13 0 0 6 0 8.893 88720 chr15 89392786 89392786 G A rs34616796 ACAN Nonsynonymous SNV R617H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 14.08 88721 chr15 89392802 89392802 C T rs35652696 ACAN Synonymous SNV C622C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 13.42 88722 chr3 49701267 49701267 G A rs138659914 BSN Synonymous SNV P3852P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.975 88723 chr14 51224551 51224551 A T rs78280523 NIN Nonsynonymous SNV V1066D 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 88724 chr3 49742584 49742584 G A rs34539806 RNF123 Synonymous SNV T709T 0.014 0.018 0.031 7 16 7 0.018 9 0 0 0 0 12.6 88725 chr15 89401362 89401362 G T rs34124958 ACAN Nonsynonymous SNV G1849V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.9 88726 chr15 89401814 89401814 G A rs34546634 ACAN Nonsynonymous SNV G2000S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.008 88727 chr15 89401989 89401989 C T rs35061438 ACAN Nonsynonymous SNV P2058L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.7 88728 chr3 48716047 48716047 G C rs779839818 NCKIPSD Nonsynonymous SNV L639V 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 25.7 88729 chr15 89422307 89422307 G A rs78230090 HAPLN3 Synonymous SNV P229P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.694 88730 chr15 89422386 89422386 C T rs75200279 HAPLN3 Nonsynonymous SNV R203Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22 88731 chr15 89424691 89424691 C T rs78894646 HAPLN3 Synonymous SNV S130S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 15.34 88732 chr15 89424697 89424697 G A rs74819608 HAPLN3 Synonymous SNV D128D 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 3.523 88733 chr21 43411304 43411304 C T rs372363785 ZBTB21 Synonymous SNV S967S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.184 88734 chr2 61413367 61413367 A G rs369049203 AHSA2P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.701 88735 chr14 56755222 56755222 C T rs202243870 PELI2 Nonsynonymous SNV T126M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.54 88736 chr15 95013586 95013586 C G MCTP2 Nonsynonymous SNV F740L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 32 88737 chr3 196744089 196744089 C T rs767169502 MELTF Nonsynonymous SNV R262Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 88738 chr15 95013587 95013587 C G MCTP2 Nonsynonymous SNV L741V 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Benign 27 88739 chr3 2908507 2908507 A G rs200414214 CNTN4 Nonsynonymous SNV T176A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.4 88740 chr14 59113132 59113132 C T rs749100934 DACT1 Synonymous SNV G560G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.921 88741 chr4 110618910 110618910 G A rs150892756 CASP6 Nonsynonymous SNV P33L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 88742 chr2 62132855 62132855 G A COMMD1 Synonymous SNV G14G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.995 88743 chr14 60448572 60448572 G C rs34896205 LRRC9 Nonsynonymous SNV A629P 0.003 0.01 0.007 0 4 4 0 2 1 0 0 0 0.003 88744 chr3 52556145 52556145 G A rs199702251 STAB1 Nonsynonymous SNV D2122N 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 13.38 88745 chr3 20026890 20026890 T C rs773500006 PP2D1 Synonymous SNV E625E 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 0.003 88746 chr4 111474611 111474611 G A rs141205275 ENPEP Nonsynonymous SNV R881K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 88747 chr15 90340950 90340950 G C rs150492701 ANPEP Synonymous SNV A671A 0.01 0.021 0.014 5 12 8 0.013 4 0 1 0 0 Benign 0.148 88748 chr3 52257400 52257400 C T rs141692865 TLR9 Nonsynonymous SNV R311Q 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 1.078 88749 chr2 71127922 71127922 C T VAX2 Synonymous SNV S57S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.03 88750 chr4 113508584 113508584 T C rs113454162 ZGRF1 Nonsynonymous SNV Y1152C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.3 88751 chr3 52383001 52383001 G A rs187636110 DNAH1 Nonsynonymous SNV S735N 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 Benign 0.007 88752 chr15 90984854 90984854 T G rs12324924 IQGAP1 Nonsynonymous SNV S256A 0.017 0.008 0.01 7 20 3 0.018 3 0 0 0 0 12.31 88753 chr3 52507794 52507794 G A rs76608301 NISCH Synonymous SNV S238S 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 Benign 10.79 88754 chr3 37584061 37584061 T C rs9850581 ITGA9 Synonymous SNV Y558Y 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 0.003 88755 chr2 70408815 70408815 T C rs77389089 C2orf42 Synonymous SNV T101T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 88756 chr2 70503954 70503954 G T rs36012096 PCYOX1 Synonymous SNV P316P 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 10.68 88757 chr2 70504399 70504399 A G rs34041544 PCYOX1 Nonsynonymous SNV S465G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 27.5 88758 chr3 38051211 38051211 G A rs75495843 PLCD1 Nonsynonymous SNV S481L 0.045 0.036 0.031 18 53 14 0.046 9 2 0 0 0 21.7 88759 chr2 70528092 70528092 G A rs72904358 FAM136A Synonymous SNV S143S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 14.71 88760 chr3 38182062 38182062 T C rs148149492 MYD88 Nonsynonymous SNV L216S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign 10.18 88761 chr3 382529 382529 A C rs148439738 CHL1 Synonymous SNV G146G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 2.695 88762 chr2 71061145 71061145 C T rs72911708 CD207 Nonsynonymous SNV R66Q 0.003 0.016 0.003 1 4 6 0.003 1 0 0 0 0 Benign 19.75 88763 chr14 65210296 65210296 G A PLEKHG3 Nonsynonymous SNV D1179N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.665 88764 chr3 58134505 58134505 A G rs62621996 FLNB Nonsynonymous SNV K1982R 0.014 0.008 0 5 17 3 0.013 0 0 0 0 0 Benign/Likely benign 13.92 88765 chr2 71211883 71211883 G T rs11688921 ANKRD53 Nonsynonymous SNV R349L 0.01 0.01 0.003 8 12 4 0.021 1 0 0 0 0 1.648 88766 chr4 122261638 122261638 T C rs184861111 QRFPR Synonymous SNV Q156Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.608 88767 chr2 71212336 71212336 T C rs11673798 ANKRD53 Nonsynonymous SNV M500T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 26.5 88768 chr14 68024020 68024020 A G rs7150973 PLEKHH1 Nonsynonymous SNV N75S 0.007 0.003 0.01 5 8 1 0.013 3 0 0 0 0 2.902 88769 chr2 73800357 73800357 A G rs201819880 ALMS1 Nonsynonymous SNV I3784V 0.004 0.013 0 4 5 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 88770 chr2 74842151 74842151 T C rs34629223 M1AP Synonymous SNV Q122Q 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 0.887 88771 chr2 71651075 71651075 G A rs138196368 ZNF638 Synonymous SNV K1477K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.897 88772 chr3 53263309 53263309 G A rs367812486 TKT Synonymous SNV C417C 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 11.04 88773 chr14 68221836 68221836 T A rs146227863 ZFYVE26 Synonymous SNV T2306T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 88774 chr14 68234427 68234427 A G rs34852231 ZFYVE26 Synonymous SNV Y1928Y 0.007 0.021 0.017 4 8 8 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 6.292 88775 chr3 53857709 53857709 T C CHDH Synonymous SNV T109T 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 3.395 88776 chr21 48069603 48069603 C G rs148075005 PRMT2 Synonymous SNV P202P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.41 88777 chr14 68250147 68250147 C T rs140756827 ZFYVE26 Nonsynonymous SNV R1241Q 0.01 0.029 0.02 4 12 11 0.01 6 0 0 0 0 Conflicting interpretations of pathogenicity 0.7 88778 chr3 39544069 39544069 C T rs755066817 MOBP Nonsynonymous SNV P84S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 14.03 88779 chr3 40466262 40466262 A T rs200229828 ENTPD3 X453L 0.005 0 0 0 6 0 0 0 0 0 0 0 3.032 88780 chr2 73491622 73491622 C T rs370861150 FBXO41 Synonymous SNV R530R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.75 88781 chr3 71247470 71247470 G A rs376702675 FOXP1 Synonymous SNV G21G 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Likely benign 15.3 88782 chr4 128608983 128608983 C G rs151039121 INTU Synonymous SNV L470L 0.012 0.031 0.017 11 14 12 0.028 5 1 1 0 0 15.15 88783 chr14 68352648 68352648 T G rs34094401 RAD51B Nonsynonymous SNV L172W 0.015 0.029 0.02 4 18 11 0.01 6 0 0 0 0 22.5 88784 chr3 56649252 56649252 T C rs61743975 CCDC66 Synonymous SNV L522L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 6.823 88785 chr2 85778193 85778193 C T rs56165933 GGCX Synonymous SNV L524L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 14.56 88786 chr2 74598211 74598211 T C DCTN1 Synonymous SNV K112K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.038 88787 chr3 56705656 56705656 T A rs369105420 TASOR Nonsynonymous SNV Y181F 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.7 88788 chr16 335589 335589 T A PDIA2 Synonymous SNV T335T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.486 88789 chr22 21083644 21083644 C T rs370079057 PI4KA Nonsynonymous SNV A1516T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 34 88790 chr3 97806305 97806305 G C rs76749982 OR5AC2 Nonsynonymous SNV A97P 0.012 0.013 0.007 2 14 5 0.005 2 0 0 0 0 4.254 88791 chr3 97806742 97806742 A C rs77322229 OR5AC2 Synonymous SNV T242T 0.018 0.018 0.014 2 21 7 0.005 4 0 0 0 0 0.354 88792 chr16 721130 721130 A G RHOT2 Nonsynonymous SNV T215A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.7 88793 chr22 21363341 21363341 T C rs2516541 THAP7-AS1, TUBA3FP 0 0 0.037 0 0 0 0 11 0 0 0 0 0.01 88794 chr22 21363505 21363505 C T rs2516542 THAP7-AS1, TUBA3FP 0 0 0.041 0 0 0 0 12 0 0 0 0 4.748 88795 chr22 21363561 21363561 T C rs4820723 THAP7-AS1, TUBA3FP 0 0 0.105 0 0 0 0 31 0 0 2 0 12.29 88796 chr3 44489027 44489027 G A rs112610581 ZNF445 Synonymous SNV S700S 0.042 0.049 0.034 9 49 19 0.023 10 2 0 0 0 9.674 88797 chr16 726842 726842 C T rs748530199 RHBDL1 Synonymous SNV Y189Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.183 88798 chr22 21383405 21383405 G A SLC7A4 Nonsynonymous SNV T616I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 88799 chr22 21385918 21385918 C T rs148955291 SLC7A4 Nonsynonymous SNV V62M 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 23.8 88800 chr3 66433735 66433735 G A rs116809906 LRIG1 Nonsynonymous SNV P721L 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 Benign 10.46 88801 chr16 767164 767164 C T rs150417120 METRN Nonsynonymous SNV P220L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 2.842 88802 chr22 21984246 21984246 G C rs142465613 YDJC Nonsynonymous SNV R20G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 88803 chr22 22007294 22007294 C T rs778548525 MIR301B 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 88804 chr22 22285595 22285595 G A rs777222904 PPM1F Synonymous SNV L272L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.56 88805 chr16 778857 778857 T C rs149082510 HAGHL Nonsynonymous SNV C188R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.038 88806 chr14 75265172 75265172 C T rs201838422 YLPM1 Nonsynonymous SNV R1058W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 88807 chr22 24037625 24037625 - CTGTTG rs144531389 GUSBP11 0 0 0.014 0 0 0 0 4 0 0 1 0 88808 chr22 24159078 24159078 G A rs1049144154 SMARCB1 Synonymous SNV T241T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.31 88809 chr3 107097346 107097346 C A rs3811061 CCDC54 Synonymous SNV T304T 0.086 0.125 0.109 38 101 48 0.097 32 6 7 3 3 11.21 88810 chr3 45136864 45136864 C T rs755321518 CDCP1 Synonymous SNV L407L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 17.33 88811 chr4 155533035 155533035 G C rs148685782 FGG Nonsynonymous SNV A108G 0.007 0.013 0.007 4 8 5 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.06 88812 chr22 26286809 26286809 G T MYO18B Synonymous SNV R1468R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.037 88813 chr3 46008021 46008021 G A rs559343345 FYCO1 Synonymous SNV D935D 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 0.024 88814 chr3 111732308 111732308 A G TAGLN3 Synonymous SNV G170G 0.012 0.013 0 5 14 5 0.013 0 0 0 0 1 9.23 88815 chr3 46939587 46939587 C T rs121434601 PTH1R Nonsynonymous SNV R150C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 25.5 88816 chr3 98072736 98072736 C A rs138936810 OR5K4 Synonymous SNV I13I 0.015 0.018 0.017 6 18 7 0.015 5 1 0 1 0 9.092 88817 chr3 98072852 98072852 A C rs78965394 OR5K4 Nonsynonymous SNV E52A 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 12.72 88818 chr3 9827059 9827059 C T rs61751574 TADA3 Synonymous SNV G287G 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 14.54 88819 chr3 47043575 47043583 GCAGCTGCA - rs758305430 NBEAL2 A1622_A1624del 0.002 0 0 0 2 0 0 0 0 0 0 0 88820 chr14 91165439 91165439 G C LOC105370622 0.001 0 0 0 1 0 0 0 0 0 0 0 1.07 88821 chr3 112727049 112727049 G A rs149448097 NEPRO Nonsynonymous SNV R235W 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 34 88822 chr4 1656830 1656830 G A rs374645617 FAM53A Nonsynonymous SNV R253C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 88823 chr3 10280481 10280481 C T rs144752184 IRAK2 Nonsynonymous SNV T508M 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 15.48 88824 chr16 3100485 3100485 A G rs61753772 MMP25 Nonsynonymous SNV E200G 0.013 0.013 0.02 2 15 5 0.005 6 0 0 0 0 25 88825 chr3 11301241 11301241 C T rs779465629 HRH1 Nonsynonymous SNV S173L 0 0 0 4 0 0 0.01 0 0 0 0 0 0.182 88826 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAA 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 88827 chr3 48473992 48473992 G C CCDC51 Nonsynonymous SNV D354E 0.002 0 0 7 2 0 0.018 0 0 0 0 0 0.001 88828 chr3 48612964 48612964 G A rs146901730 COL7A1 Synonymous SNV I1996I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 13.97 88829 chr3 48617744 48617744 G A rs2229820 COL7A1 Nonsynonymous SNV R1696C 0.002 0 0 7 2 0 0.018 0 0 0 0 0 Uncertain significance 28.7 88830 chr3 48624040 48624040 C T rs2228563 COL7A1 Nonsynonymous SNV R1120K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 10.48 88831 chr3 48630252 48630252 G A rs35623035 COL7A1 Nonsynonymous SNV P268S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 23.1 88832 chr3 49568543 49568543 C G rs41290704 DAG1 Nonsynonymous SNV T200S 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 88833 chr4 115998150 115998150 T G NDST4 Nonsynonymous SNV I15L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 8.922 88834 chr4 17640880 17640880 C G rs61742285 FAM184B Nonsynonymous SNV E887Q 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 24.6 88835 chr3 49699107 49699107 G A rs199639588 BSN Nonsynonymous SNV G3277R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.38 88836 chr3 49068050 49068050 G A rs146971607 QRICH1 Synonymous SNV D722D 0.003 0.008 0.007 7 4 3 0.018 2 0 0 0 0 Benign 1.676 88837 chr4 104511142 104511142 A G TACR3 Synonymous SNV A365A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.843 88838 chr3 49137043 49137043 C T rs144092780 QARS1 Nonsynonymous SNV V465I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 11.32 88839 chr4 106155620 106155620 C A rs146031219 TET2 Nonsynonymous SNV P174H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 not provided 12.46 88840 chr4 106569810 106569810 C T rs138832734 ARHGEF38 Synonymous SNV L327L 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 11.23 88841 chr14 95934205 95934205 C T rs146970314 SYNE3 Nonsynonymous SNV G82R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.94 88842 chr14 96772059 96772059 T A rs72704878 ATG2B Nonsynonymous SNV T1534S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.004 88843 chr4 184367898 184367898 A G CDKN2AIP Nonsynonymous SNV N354S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 88844 chr14 96772075 96772075 G A rs146028674 ATG2B Synonymous SNV P1528P 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 5.386 88845 chr22 37696978 37696978 C T rs140901499 CYTH4 Synonymous SNV G98G 0.004 0.01 0.014 1 5 4 0.003 4 0 0 0 0 19.53 88846 chr22 37962800 37962800 G C rs370359827 CDC42EP1 Synonymous SNV T148T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.067 88847 chr3 118948830 118948830 T C rs72655933 B4GALT4 Synonymous SNV Q39Q 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 0.03 88848 chr4 114279248 114279248 G T rs145111737 ANK2 Synonymous SNV P3158P 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 0.06 88849 chr3 119132812 119132812 C T rs61736796 ARHGAP31 Nonsynonymous SNV T679I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.004 88850 chr4 187005865 187005865 C T rs73873710 TLR3 Synonymous SNV F851F 0.04 0.052 0.041 5 47 20 0.013 12 0 0 1 0 Benign 13.8 88851 chr14 101350152 101350152 T C rs377305586 RTL1 Nonsynonymous SNV H325R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.1 88852 chr3 121187183 121187183 C T rs775826679 POLQ Nonsynonymous SNV A2272T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.54 88853 chr22 41075504 41075504 G T rs202245704 MCHR1 Nonsynonymous SNV G19C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 88854 chr22 42229562 42229562 C T rs13057991 SREBF2-AS1 0 0 0.156 0 0 0 0 46 0 0 15 0 15.1 88855 chr3 53226179 53226179 G A rs369041593 PRKCD Nonsynonymous SNV R662H 0.003 0 0 7 3 0 0.018 0 0 0 0 0 23.2 88856 chr3 53684868 53684868 G A rs111366170 CACNA1D Synonymous SNV A182A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.11 88857 chr4 148984305 148984305 C T rs144731909 ARHGAP10 Synonymous SNV G678G 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 7.583 88858 chr4 2195009 2195009 G A rs11725880 POLN Nonsynonymous SNV P315S 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Benign 23.9 88859 chr4 128554239 128554239 C T INTU Nonsynonymous SNV P17L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 88860 chr4 128584661 128584661 C T rs35147318 INTU Synonymous SNV I298I 0.013 0.021 0.003 7 15 8 0.018 1 0 0 0 0 10.37 88861 chr4 128628100 128628100 A C rs35858752 INTU Nonsynonymous SNV L749F 0.01 0.021 0.003 7 12 8 0.018 1 0 0 0 0 0.005 88862 chr4 128814492 128814492 G A rs56250604 PLK4 Synonymous SNV G715G 0.013 0.021 0.003 7 15 8 0.018 1 0 0 0 0 11.48 88863 chr4 24839843 24839843 C T rs774075880 CCDC149 Nonsynonymous SNV V142M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 88864 chr4 128842761 128842761 G A rs3733319 MFSD8 Nonsynonymous SNV A318V 0.014 0.021 0.003 7 16 8 0.018 1 0 0 0 0 Benign/Likely benign 9.316 88865 chr4 128949799 128949799 C T rs58225850 ABHD18 Nonsynonymous SNV A163V 0.013 0.021 0.003 7 15 8 0.018 1 0 0 0 0 11.98 88866 chr4 128949850 128949850 A G rs35763794 ABHD18 Nonsynonymous SNV N180S 0.013 0.021 0.003 7 15 8 0.018 1 0 0 0 0 0.006 88867 chr4 128949929 128949929 C A rs60505265 ABHD18 Nonsynonymous SNV S206R 0.013 0.021 0.003 7 15 8 0.018 1 0 0 0 0 16.52 88868 chr14 104644142 104644142 G A rs202091211 KIF26A Nonsynonymous SNV A1673T 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 23.6 88869 chr3 123666102 123666102 G A CCDC14 Nonsynonymous SNV T98I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.3 88870 chr4 2709940 2709940 C T rs9683962 FAM193A Synonymous SNV R1189R 0.006 0.029 0.007 9 7 11 0.023 2 0 0 0 0 7.77 88871 chr3 58107100 58107100 G A rs755928543 FLNB Nonsynonymous SNV R999Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.3 88872 chr3 58413833 58413833 C T rs751210948 PDHB Synonymous SNV K318K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.04 88873 chr14 105452825 105452825 A G rs148713230 CLBA1 Synonymous SNV A19A 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 0.862 88874 chr14 105461085 105461085 G A rs200272722 CLBA1 Nonsynonymous SNV D323N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 8.822 88875 chr4 144466727 144466727 T C rs61748162 SMARCA5 Synonymous SNV I796I 0.011 0.008 0.007 4 13 3 0.01 2 0 0 0 0 9.522 88876 chr15 22947032 22947032 C T rs145411918 CYFIP1 Synonymous SNV Y313Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.194 88877 chr15 22993119 22993119 C T rs773883154 CYFIP1 Synonymous SNV N571N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 88878 chr3 130187662 130187662 G T rs115375867 COL6A5 Stop gain E2272X 0.008 0.003 0.01 6 9 1 0.015 3 0 0 0 0 Benign 44 88879 chr3 73673523 73673523 G A rs112594802 PDZRN3 Nonsynonymous SNV H152Y 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 0.038 88880 chr3 130188161 130188161 A C rs145581290 COL6A5 Nonsynonymous SNV Y2438S 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 22.1 88881 chr3 78676523 78676523 A G rs62260386 ROBO1 Synonymous SNV L1175L 0.01 0.008 0 0 12 3 0 0 1 0 0 0 Benign 5.426 88882 chr3 126224851 126224851 G A rs149096963 UROC1 Synonymous SNV Y202Y 0.014 0.013 0.01 5 16 5 0.013 3 0 0 0 0 Benign 6.05 88883 chr3 126227286 126227286 A G rs34506298 UROC1 Synonymous SNV N128N 0.02 0.026 0.024 7 23 10 0.018 7 1 0 0 0 Benign 3.55 88884 chr22 47857563 47857563 G T rs142074671 LINC01644 0 0 0.014 0 0 0 0 4 0 0 0 0 6.322 88885 chr22 48021284 48021284 G T rs201072759 LINC00898 0 0 0.003 0 0 0 0 1 0 0 0 0 1.863 88886 chr3 126723733 126723733 C T rs559370201 PLXNA1 Nonsynonymous SNV S542L 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 88887 chr3 69813068 69813068 T C rs781087974 MITF Synonymous SNV L26L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.051 88888 chr4 16077475 16077475 A C rs189108830 PROM1 Nonsynonymous SNV S19A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 1.486 88889 chr3 126916103 126916103 C G rs770393141 C3orf56 Nonsynonymous SNV S192C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 88890 chr4 152570697 152570697 C A rs541223684 FAM160A1 Nonsynonymous SNV Q502K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 88891 chr3 128664388 128664388 T C rs188359434 KIAA1257 Nonsynonymous SNV H304R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 88892 chr3 9032247 9032247 C T rs761802429 SRGAP3 Synonymous SNV R921R 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 12.25 88893 chr3 129151359 129151359 T C rs577234840 MBD4 Nonsynonymous SNV N233S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 88894 chr3 129155414 129155414 A G rs2307298 MBD4 Nonsynonymous SNV I358T 0.011 0.005 0.007 8 13 2 0.021 2 0 0 0 0 0.077 88895 chr3 97596214 97596214 G T rs376823008 CRYBG3 Nonsynonymous SNV G2059V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.68 88896 chr4 175897196 175897196 C T rs149968346 ADAM29 Stop gain R174X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 88897 chr4 156269026 156269026 C T rs767767555 MAP9 Nonsynonymous SNV R618Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 88898 chr3 12977085 12977085 G A rs371347925 IQSEC1 Synonymous SNV S477S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.67 88899 chr3 137843454 137843454 A T rs768654443 A4GNT Synonymous SNV P225P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.022 88900 chr22 50921305 50921305 C A rs199634529 ADM2 Nonsynonymous SNV D140E 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 24.8 88901 chr3 9990787 9990787 G A rs377600710 PRRT3 Nonsynonymous SNV P338L 0.003 0 0 0 3 0 0 0 0 0 0 0 19.9 88902 chr4 41946923 41946923 G T rs144704555 TMEM33 Synonymous SNV A170A 0.005 0.01 0.003 3 6 4 0.008 1 0 0 0 0 8.301 88903 chr3 138119381 138119381 G A rs149904534 MRAS Synonymous SNV P75P 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 14.31 88904 chr22 50966076 50966076 C T TYMP Nonsynonymous SNV G196E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 88905 chr4 183836164 183836164 C T rs186817129 DCTD Synonymous SNV G63G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.06 88906 chr4 100574790 100574790 C T rs188470166 C4orf54 Nonsynonymous SNV G339E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.49 88907 chr4 100575422 100575422 G A rs150080186 C4orf54 Synonymous SNV S128S 0.021 0.021 0.01 6 25 8 0.015 3 0 0 0 0 0.324 88908 chr4 47645061 47645061 G A rs55932196 CORIN Nonsynonymous SNV H687Y 0.009 0.023 0.024 3 10 9 0.008 7 0 0 0 0 4.455 88909 chr4 101111196 101111196 A T rs534989308 LOC101929353 0.001 0 0 0 1 0 0 0 0 0 0 0 7.121 88910 chr3 142137357 142137357 G A rs147612996 XRN1 Synonymous SNV D445D 0 0 0 2 0 0 0.005 0 0 0 0 0 11.15 88911 chr15 40849466 40849466 T G CCDC32 Nonsynonymous SNV Q126P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.5 88912 chr4 103947738 103947738 C T rs191495269 SLC9B2 Nonsynonymous SNV G411E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 88913 chr4 100756879 100756879 C T rs199971263 DAPP1 Synonymous SNV T67T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.16 88914 chr3 13613032 13613032 C T rs765807670 FBLN2 Synonymous SNV L393L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.547 88915 chr15 41105994 41105994 C A rs199653762 ZFYVE19 Synonymous SNV R330R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.56 88916 chr15 41148139 41148139 G T SPINT1 Synonymous SNV P389P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 88917 chr4 103645082 103645082 C T rs6857760 MANBA Synonymous SNV T105T 0.036 0.034 0.024 5 42 13 0.013 7 1 0 0 0 Benign 14.66 88918 chr4 10447680 10447680 G A rs141392062 ZNF518B Synonymous SNV L91L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 2.95 88919 chr4 106359122 106359122 G A rs138826533 PPA2 Synonymous SNV C171C 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Benign 13.48 88920 chr3 15115376 15115376 G A rs61740931 RBSN Synonymous SNV C756C 0.012 0.005 0.003 6 14 2 0.015 1 0 0 0 0 Benign 7.219 88921 chr16 56913504 56913504 C T rs142199602 SLC12A3 Synonymous SNV F462F 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.21 88922 chr4 5806477 5806477 A C rs994935575 EVC Nonsynonymous SNV K824Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.254 88923 chr4 62542607 62542607 A G rs375658230 ADGRL3 Synonymous SNV P111P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 5.649 88924 chr4 108866264 108866264 T C rs143913941 CYP2U1 Nonsynonymous SNV M210T 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.7 88925 chr4 108991910 108991910 C T rs200011152 LEF1 Nonsynonymous SNV R314H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 88926 chr4 186357471 186357471 A G rs562786496 C4orf47 Synonymous SNV S164S 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 4.817 88927 chr4 68405599 68405599 G A rs201575627 CENPC Nonsynonymous SNV R64C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 88928 chr15 43010965 43010965 A G rs777539145 STARD9 Nonsynonymous SNV M4620V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.862 88929 chr15 43653413 43653413 C T rs146256400 ZSCAN29 Nonsynonymous SNV R806H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 88930 chr4 2944051 2944051 G A rs372098273 NOP14 Nonsynonymous SNV A640V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 25.7 88931 chr4 122078389 122078389 G A rs745963969 TNIP3 Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.364 88932 chr4 71063858 71063858 A - rs749399644 ODAM Q120Hfs*7 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 88933 chr15 43818565 43818565 A C MAP1A Synonymous SNV R1632R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.243 88934 chr4 3487290 3487290 C T rs772577244 DOK7 Nonsynonymous SNV S42L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 88935 chr4 126238397 126238397 G A rs142490028 FAT4 Synonymous SNV A277A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.04 88936 chr4 122254078 122254078 A C rs139457842 QRFPR Nonsynonymous SNV I232S 0.014 0.005 0.003 2 17 2 0.005 1 2 0 0 0 14.66 88937 chr3 154056054 154056054 C T rs770205837 GPR149 Nonsynonymous SNV G544S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.517 88938 chr2 128459165 128459165 - GCCGCGGAGCCGCTGCTC rs758379383 SFT2D3 E30_K31insPLLAAE 0.006 0.016 0.014 2 7 6 0.005 4 0 0 0 0 88939 chr4 126371792 126371792 C T rs148558216 FAT4 Synonymous SNV A3209A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.029 88940 chr2 129625968 129625968 A G rs1251099 LOC101927881 0 0 0.122 0 0 0 0 36 0 0 18 0 5.017 88941 chr2 131487021 131487021 C T rs76471295 GPR148 Synonymous SNV Y99Y 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.398 88942 chr4 7677918 7677918 C T rs763678557 SORCS2 Nonsynonymous SNV R435W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 88943 chr2 131671649 131671649 T G rs149365221 ARHGEF4 Nonsynonymous SNV W44G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.799 88944 chr2 133402949 133402949 G A rs61735719 GPR39 Nonsynonymous SNV A378T 0.008 0.003 0.017 8 9 1 0.021 5 0 0 0 0 Conflicting interpretations of pathogenicity 0.032 88945 chr2 133539726 133539726 T A rs189863863 NCKAP5 Nonsynonymous SNV K1553I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.8 88946 chr2 133541446 133541446 G A rs192960876 NCKAP5 Nonsynonymous SNV P980S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.58 88947 chr4 7765501 7765501 G A rs114329356 AFAP1 Synonymous SNV N728N 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.96 88948 chr15 51980575 51980575 T G rs77781788 SCG3 Synonymous SNV V172V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.72 88949 chr4 2701907 2701907 C T rs571293848 FAM193A Synonymous SNV G1045G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.799 88950 chr15 51984514 51984514 A G rs111419312 SCG3 Synonymous SNV L51L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.732 88951 chr4 129120652 129120652 C G LARP1B Nonsynonymous SNV P408A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 88952 chr3 184095976 184095976 C T rs41266279 THPO Synonymous SNV A54A 0.009 0.023 0.003 5 10 9 0.013 1 0 0 0 0 15.51 88953 chr4 3149799 3149799 G C HTT Nonsynonymous SNV K1121N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.6 88954 chr4 79158715 79158715 G C rs17003071 FRAS1 Nonsynonymous SNV D54H 0.004 0.013 0.01 2 5 5 0.005 3 0 0 0 0 Benign 26.3 88955 chr4 42895555 42895555 G T rs113203706 GRXCR1 Nonsynonymous SNV G91V 0.005 0.013 0.017 1 6 5 0.003 5 0 0 0 0 Benign/Likely benign 0.489 88956 chr4 79166478 79166478 A T rs78711748 FRAS1 Nonsynonymous SNV E103V 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 Benign 10.53 88957 chr4 79229302 79229302 A G rs345528 FRAS1 Synonymous SNV R539R 0.009 0.013 0.014 5 11 5 0.013 4 0 0 0 0 Benign 0.154 88958 chr4 141380726 141380726 C T rs78019382 MGAT4D Nonsynonymous SNV V273I 0.034 0.013 0.017 7 40 5 0.018 5 2 0 0 0 8.962 88959 chr4 79394691 79394691 A G rs144530996 FRAS1 Nonsynonymous SNV N2541S 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25 88960 chr3 185252641 185252641 C A rs370653261 LIPH Nonsynonymous SNV R110L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 33 88961 chr2 152109289 152109289 C T rs199588272 RBM43 Nonsynonymous SNV V99I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.793 88962 chr4 141321650 141321650 A G rs112605307 CLGN Synonymous SNV C185C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 1.1 88963 chr15 56390492 56390492 T C rs147336217 RFX7 Synonymous SNV P201P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.633 88964 chr4 367283 367283 A G ZNF141 Nonsynonymous SNV K277E 0.031 0.036 0.024 13 36 14 0.033 7 0 0 0 0 4.696 88965 chr4 37851856 37851856 A C rs10001580 PGM2 Nonsynonymous SNV E488D 0.027 0.021 0.017 17 32 8 0.044 5 1 0 0 0 2.281 88966 chr4 152203349 152203349 G C rs777276781 PRSS48 Nonsynonymous SNV G89R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.691 88967 chr4 52861713 52861713 C G LRRC66 Nonsynonymous SNV G492A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.056 88968 chr3 18082986 18082986 C - rs201677897 LOC339862 0.001 0.003 0 0 1 1 0 0 0 0 0 0 88969 chr4 8217949 8217949 T A rs780736932 SH3TC1 Stop gain L122X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 88970 chr3 188592145 188592145 G A rs9830664 LPP Nonsynonymous SNV G426S 0.009 0 0 3 11 0 0.008 0 0 0 0 0 Likely benign 33 88971 chr3 189689689 189689689 G T rs35067805 P3H2 Synonymous SNV R422R 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 Benign 9.938 88972 chr4 154216548 154216548 C T rs35333794 TRIM2 Synonymous SNV N263N 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 Benign 9.145 88973 chr3 189689693 189689693 T C rs140544765 P3H2 Synonymous SNV T420T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.124 88974 chr16 81224288 81224288 C T rs765216386 PKD1L2 Nonsynonymous SNV M551I 0.003 0 0 0 3 0 0 0 0 0 0 0 8.975 88975 chr15 62254989 62254989 T C rs3784635 VPS13C Nonsynonymous SNV I1089V 0.012 0.026 0.01 3 14 10 0.008 3 0 1 0 0 5.977 88976 chr4 83827766 83827766 G A rs139068755 THAP9 Nonsynonymous SNV R189Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 88977 chr15 62299603 62299603 T G rs9635356 VPS13C Synonymous SNV I355I 0.015 0.026 0.014 4 18 10 0.01 4 0 0 0 0 10.71 88978 chr15 62316035 62316035 C T rs12595158 VPS13C Nonsynonymous SNV R153H 0.015 0.026 0.01 4 18 10 0.01 3 0 0 0 0 33 88979 chr4 8394157 8394157 G A rs147597729 ACOX3 Synonymous SNV H401H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 4.972 88980 chr15 63029280 63029280 G A TLN2 Nonsynonymous SNV A1188T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 88981 chr2 16081155 16081155 G - rs764334702 MYCNOS 0 0 0.007 0 0 0 0 2 0 0 0 0 88982 chr2 162360575 162360575 T C rs62187565 AHCTF1P1 0 0 0.116 0 0 0 0 34 0 0 2 0 5.831 88983 chr2 162362030 162362030 G A rs921415705 AHCTF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 11.39 88984 chr2 162363066 162363066 G A rs62187567 AHCTF1P1 0 0 0.119 0 0 0 0 35 0 0 2 0 7.619 88985 chr4 8477682 8477682 C G rs34867053 TRMT44 Nonsynonymous SNV A502G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.115 88986 chr16 84031879 84031879 C T rs141800256 NECAB2 Nonsynonymous SNV R289C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 88987 chr4 156631917 156631917 A G rs751687839 GUCY1A1 Synonymous SNV L200L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 88988 chr16 84031884 84031884 G C rs2292329 NECAB2 Nonsynonymous SNV Q290H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.9 88989 chr3 184049807 184049807 C T rs11559218 EIF4G1 Synonymous SNV D1322D 0.024 0.018 0.014 8 28 7 0.021 4 1 0 0 1 Benign 14.63 88990 chr2 167136884 167136884 G A rs771120873 SCN9A Nonsynonymous SNV L776F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 88991 chr4 87812646 87812646 T C rs138115166 C4orf36 Nonsynonymous SNV T10A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.73 88992 chr4 48343885 48343885 C A SLAIN2 Synonymous SNV S43S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.695 88993 chr3 195622120 195622120 C T TNK2 Synonymous SNV P17P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.54 88994 chr15 66644502 66644502 T G rs137903222 TIPIN Synonymous SNV T59T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.935 88995 chr3 196737651 196737651 G A rs141115556 MELTF Synonymous SNV D416D 0.005 0.003 0 11 6 1 0.028 0 0 0 0 0 4.95 88996 chr3 188956641 188956641 G T rs141343232 TPRG1 Nonsynonymous SNV S141I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.5 88997 chr4 952210 952210 C T rs201314478 TMEM175 Nonsynonymous SNV R399W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 88998 chr16 84793061 84793061 A T USP10 Synonymous SNV T459T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.358 88999 chr3 190573522 190573522 G A rs151103746 GMNC Synonymous SNV V189V 0.014 0.005 0.01 5 16 2 0.013 3 0 0 0 1 10.86 89000 chr4 71024426 71024485 CCTGTTGCAGCTGAGCCTGCTGCAGAGGCACCTGTTGGAGCTGAGCCTGCTGCAGAGGCA - PRR27 A166_G185del 0.025 0.013 0.014 11 29 5 0.028 4 0 0 0 0 89001 chr15 69327737 69327737 G A rs34406284 NOX5 Stop gain W272X 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 37 89002 chr15 69349013 69349013 A G rs7168025 NOX5 Nonsynonymous SNV R731G 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.032 89003 chr15 69561181 69561181 T C rs56045514 GLCE Synonymous SNV H227H 0.006 0 0.01 1 7 0 0.003 3 0 0 1 0 0.001 89004 chr3 23930669 23930669 T C rs72627058 UBE2E1 Synonymous SNV L102L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.289 89005 chr3 23996056 23996056 C T rs72627100 NR1D2 Synonymous SNV S15S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.41 89006 chr15 70960565 70960565 T C rs144149272 UACA Nonsynonymous SNV I807V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 0.001 89007 chr3 24006497 24006497 G A rs72628104 NR1D2 Synonymous SNV V317V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.81 89008 chr2 174062595 174062595 A G rs3754740 MAP3K20-AS1 0.003 0 0.31 0 4 0 0 91 2 0 25 0 0.005 89009 chr2 174104211 174104211 G A rs201693932 MAP3K20 Nonsynonymous SNV G449E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 24.2 89010 chr4 17710743 17710743 C T rs61741431 FAM184B Synonymous SNV Q222Q 0.008 0.003 0 0 9 1 0 0 0 0 0 0 11.84 89011 chr5 101748749 101748749 T C rs896373922 SLCO6A1 Nonsynonymous SNV Y271C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 89012 chr4 6303108 6303108 G A WFS1 Nonsynonymous SNV C529Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.27 89013 chr4 178283446 178283446 G T rs36005630 NEIL3 Nonsynonymous SNV A547S 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 27.5 89014 chr5 108713984 108713984 C T rs34621137 PJA2 Nonsynonymous SNV A402T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 14.73 89015 chr2 179400061 179400061 G A rs201421156 TTN Nonsynonymous SNV R24696W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 89016 chr5 109103259 109103259 G A rs775436901 MAN2A1 Nonsynonymous SNV A287T 0 0.003 0 0 0 1 0 0 0 0 0 0 27 89017 chr3 33135157 33135157 G A rs149556134 TMPPE Synonymous SNV S177S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.31 89018 chr4 6610949 6610949 G A rs138418678 MAN2B2 Nonsynonymous SNV V593M 0.004 0.013 0.007 0 5 5 0 2 0 0 0 0 22.5 89019 chr4 1834666 1834666 T C rs140729898 LETM1 Synonymous SNV E295E 0.028 0.018 0.027 5 33 7 0.013 8 2 1 0 0 0.357 89020 chr15 74742386 74742386 G A rs374851070 UBL7 Synonymous SNV L185L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.71 89021 chr4 6610987 6610987 G A rs538817825 MAN2B2 Synonymous SNV A605A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.945 89022 chr2 179436343 179436343 C G TTN Nonsynonymous SNV S15774T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 89023 chr4 185684324 185684324 G A rs41278585 ACSL1 Synonymous SNV G472G 0.017 0.013 0.017 10 20 5 0.026 5 0 0 0 1 Benign 13.3 89024 chr4 68484837 68484837 C A rs111757763 UBA6 Nonsynonymous SNV V1013L 0.011 0.021 0.007 4 13 8 0.01 2 0 0 0 0 26.6 89025 chr2 17947946 17947946 A G rs371380986 GEN1 Nonsynonymous SNV Y209C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 89026 chr3 36527720 36527720 T C rs45549732 STAC Synonymous SNV S161S 0.008 0.003 0.014 5 9 1 0.013 4 0 0 0 0 9.12 89027 chr3 195594783 195594783 G T rs75030861 TNK2 Synonymous SNV R813R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.999 89028 chr3 196281549 196281549 A G WDR53 Nonsynonymous SNV S43P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 89029 chr4 187195308 187195308 G A F11 Nonsynonymous SNV G122S 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 89030 chr5 1201921 1201921 C T rs146382764 SLC6A19 Synonymous SNV L52L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 6.836 89031 chr3 196674687 196674687 - C rs758078030 PIGZ Frameshift insertion S361Efs*25 0.002 0.003 0 0 2 1 0 0 0 0 0 0 89032 chr4 74275201 74275201 A G rs58639526 ALB Synonymous SNV P204P 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 Benign 0.517 89033 chr4 75040404 75040404 G A rs61744957 MTHFD2L Nonsynonymous SNV V109I 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 19.21 89034 chr15 85461828 85461828 T C rs185043976 SLC28A1 Nonsynonymous SNV I290T 0.004 0 0 0 5 0 0 0 1 0 0 0 27.6 89035 chr4 77045840 77045840 T G rs765028638 NUP54 Nonsynonymous SNV K328Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 89036 chr4 2306615 2306615 C T rs138443865 ZFYVE28 Synonymous SNV S454S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.94 89037 chr4 84388671 84388673 TCT - rs759905964 ABRAXAS1 E96del 0 0.003 0 0 0 1 0 0 0 0 0 0 89038 chr2 186664825 186664825 G A rs143780618 FSIP2 Nonsynonymous SNV G3598S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.422 89039 chr4 77818958 77818958 G A rs150366861 SOWAHB Synonymous SNV C15C 0.018 0.034 0.02 4 21 13 0.01 6 0 0 0 0 11.91 89040 chr4 26491025 26491025 A G CCKAR Nonsynonymous SNV V65A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 89041 chr4 3076615 3076615 - CAGCAG HTT Q38_P39insQQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 89042 chr4 2941317 2941317 G A rs13106867 NOP14 Nonsynonymous SNV P752L 0.013 0.018 0.027 3 15 7 0.008 8 0 0 0 0 18.81 89043 chr3 37376547 37376547 C T rs143296928 GOLGA4 Nonsynonymous SNV R2066C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 89044 chr15 89398357 89398357 C T rs201758384 ACAN Synonymous SNV P847P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.218 89045 chr4 79697870 79697870 C A rs149914551 BMP2K Nonsynonymous SNV A58D 0.003 0.008 0.014 3 3 3 0.008 4 0 0 0 0 32 89046 chr2 191862624 191862624 A G rs779371351 STAT1 Nonsynonymous SNV I248T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 89047 chr15 89422294 89422294 C T rs768239425 HAPLN3 Nonsynonymous SNV G234S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 89048 chr4 367285 367285 A T ZNF141 Nonsynonymous SNV K277N 0.02 0.023 0.024 12 24 9 0.031 7 0 0 0 0 5.677 89049 chr2 196726465 196726465 T C rs201664050 DNAH7 Nonsynonymous SNV K2571R 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 23.9 89050 chr4 83350596 83350596 G A rs201774571 HNRNPDL Nonsynonymous SNV P83L 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 Uncertain significance 26.3 89051 chr15 89866646 89866646 G A rs41564016 POLG Synonymous SNV L752L 0.009 0.003 0.007 5 10 1 0.013 2 0 0 0 0 Benign/Likely benign 10.07 89052 chr2 201887610 201887610 G A rs13402131 FAM126B Nonsynonymous SNV R33W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 89053 chr2 202580441 202580441 T A rs370183884 ALS2 Nonsynonymous SNV N1320Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 89054 chr3 41953147 41953147 T G rs759848838 ULK4 Nonsynonymous SNV N301H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.344 89055 chr4 39863938 39863938 A G PDS5A Nonsynonymous SNV L996P 0.001 0 0 0 1 0 0 0 0 0 0 0 30 89056 chr15 90622936 90622936 G A rs117711777 ZNF710 Nonsynonymous SNV G624S 0.006 0.01 0.01 4 7 4 0.01 3 0 0 0 0 10.27 89057 chr2 203991333 203991333 T G rs755153993 NBEAL1 Nonsynonymous SNV I984M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.85 89058 chr3 42679486 42679486 A G rs150528581 NKTR Nonsynonymous SNV K764E 0.015 0.013 0.007 12 18 5 0.031 2 0 0 0 0 10.67 89059 chr5 107521946 107521946 T C rs138470526 FBXL17 Synonymous SNV L539L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.16 89060 chr15 91509848 91509851 ACAC - rs137904575 PRC1-AS1 0.005 0.003 0 0 6 1 0 0 0 0 0 0 89061 chr2 205986387 205986387 T C rs762922685 PARD3B Synonymous SNV R293R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.192 89062 chr4 41648767 41648767 G A rs148133956 LIMCH1 Nonsynonymous SNV A342T 0.017 0.01 0.01 7 20 4 0.018 3 0 0 0 0 0.525 89063 chr3 42947895 42947895 C T rs568202781 ZNF662 Synonymous SNV L18L 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 6.244 89064 chr5 110441839 110441839 G A rs35703638 WDR36 Nonsynonymous SNV A449T 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 Uncertain significance 23.2 89065 chr2 207026166 207026166 C T EEF1B2 Synonymous SNV D100D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 89066 chr17 3833665 3833665 C T rs141235119 ATP2A3 Nonsynonymous SNV E892K 0.013 0.005 0.007 7 15 2 0.018 2 0 0 0 1 23 89067 chr2 207647981 207647981 C T rs2241347 MIR3130-1, MIR3130-2 0 0 0.197 0 0 0 0 58 0 0 10 0 7.474 89068 chr4 90169845 90169845 T G rs376200101 GPRIN3 Nonsynonymous SNV I473L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 89069 chr5 140475438 140475438 T C rs137916199 PCDHB2 Nonsynonymous SNV I355T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 89070 chr3 44611759 44611759 A G rs149725884 ZKSCAN7 Nonsynonymous SNV D235G 0.014 0.008 0.017 12 17 3 0.031 5 0 0 0 0 8.016 89071 chr5 140603528 140603528 A G rs149483573 PCDHB14 Nonsynonymous SNV T151A 0.005 0.003 0.017 4 6 1 0.01 5 0 0 0 0 0.002 89072 chr3 44894185 44894185 C T rs184866086 KIF15 Synonymous SNV A1375A 0.007 0.003 0.017 10 8 1 0.026 5 0 0 0 0 Benign 21.4 89073 chr3 44945415 44945415 G A rs371239197 TGM4 Synonymous SNV P337P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 5.991 89074 chr4 48542671 48542671 G A rs373260615 FRYL Synonymous SNV N1998N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.206 89075 chr5 14291244 14291244 G A rs372630442 TRIO Synonymous SNV S320S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.26 89076 chr2 210791605 210791605 G - UNC80 V1835Cfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 89077 chr4 54266001 54266001 G A rs149817693 FIP1L1 Synonymous SNV P232P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 89078 chr5 145464130 145464130 T C rs1859897 PLAC8L1 Synonymous SNV T133T 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 0.007 89079 chr5 147041025 147041025 G A rs752303883 JAKMIP2-AS1 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.16 89080 chr4 55984889 55984889 G A rs141577956 KDR Synonymous SNV S80S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.475 89081 chr4 56875950 56875950 C T rs369566362 CEP135 Nonsynonymous SNV R796W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 89082 chr17 5437296 5437296 C T rs11654427 NLRP1 Synonymous SNV V961V 0.009 0.029 0.01 9 10 11 0.023 3 0 0 0 0 Benign 5.374 89083 chr17 6703460 6703460 G A rs759400161 TEKT1 Synonymous SNV N381N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.652 89084 chr16 626214 626214 G A rs371210440 PIGQ Nonsynonymous SNV R301H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11.43 89085 chr2 219029932 219029932 C T rs55808468 CXCR1 Star tloss M1? 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.833 89086 chr5 112871365 112871365 T C rs145439600 YTHDC2 Synonymous SNV F24F 0.025 0.029 0.01 6 29 11 0.015 3 0 0 0 0 9.089 89087 chr2 219527323 219527323 G A rs371242452 BCS1L Synonymous SNV L103L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.09 89088 chr3 49739277 49739277 G A rs200279168 RNF123 Nonsynonymous SNV A477T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 10.93 89089 chr2 219558006 219558006 A C rs145980892 STK36 Nonsynonymous SNV Q696P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.28 89090 chr16 728046 728046 G A rs150844208 RHBDL1 Synonymous SNV P297P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.983 89091 chr5 135273232 135273232 C T rs201662172 FBXL21P 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 11.84 89092 chr5 150036289 150036289 C T rs10055054 SYNPO Synonymous SNV S784S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.59 89093 chr5 150071406 150071406 G C rs34249089 RBM22 Synonymous SNV P390P 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 Benign 6.092 89094 chr4 6865014 6865014 A G KIAA0232 Nonsynonymous SNV I969V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 89095 chr17 7340720 7340720 C T rs369868893 TMEM102 Synonymous SNV A474A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.499 89096 chr4 6925435 6925435 C T TBC1D14 Synonymous SNV L107L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.654 89097 chr2 220333960 220333960 C T rs767242646 SPEG Nonsynonymous SNV R1192W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 89098 chr5 126862387 126862387 A G rs771212748 PRRC1 Nonsynonymous SNV T191A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 89099 chr16 1258106 1258106 C T rs1064793076 CACNA1H Nonsynonymous SNV T1083M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 31 89100 chr5 150925211 150925211 G A rs151015689 FAT2 Nonsynonymous SNV S1826L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.578 89101 chr17 7750177 7750177 - ATCACC KDM6B L251_P252insSP 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 89102 chr5 139422511 139422511 - CTGCTGCTGCTGCCGCTCTCGCTG rs752317547 NRG2 S47_R48insSSESGSSS 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 89103 chr17 7919833 7919833 G A rs142351773 GUCY2D Synonymous SNV P1099P 0.032 0.044 0.051 10 37 17 0.026 15 0 0 0 0 Benign 11.44 89104 chr3 52818446 52818446 C T rs140460972 ITIH1 Nonsynonymous SNV R166W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.5 89105 chr5 135382641 135382641 C T rs141157946 TGFBI Synonymous SNV H187H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 11.63 89106 chr4 77230737 77230737 C - rs752699597 STBD1 K222Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 89107 chr4 7941441 7941441 G A rs748743732 LOC389199 Synonymous SNV A183A 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 12.15 89108 chr3 62860663 62860663 G A rs201514742 CADPS Synonymous SNV I14I 0.005 0.008 0.003 5 6 3 0.013 1 0 0 0 0 16.49 89109 chr16 2230885 2230885 C T rs762947901 CASKIN1 Synonymous SNV T828T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.285 89110 chr3 54930715 54930715 T C rs536927750 CACNA2D3-AS1 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.414 89111 chr16 2263822 2263822 A C rs200526199 PGP Nonsynonymous SNV N291K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 89112 chr5 167474474 167474474 A G rs114898031 TENM2 Nonsynonymous SNV D258G 0.014 0.01 0.024 1 16 4 0.003 7 0 0 0 0 23.6 89113 chr3 77684163 77684163 A G rs372349866 ROBO2 Synonymous SNV A1301A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 9.646 89114 chr2 233251374 233251374 A G rs114158582 ECEL1P2 0 0 0.007 0 0 0 0 2 0 0 0 0 4.71 89115 chr5 169310737 169310737 C T rs200178689 INSYN2B Nonsynonymous SNV V56I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 89116 chr4 79763578 79763578 C T rs200170520 BMP2K Nonsynonymous SNV T148M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.2 89117 chr4 80992752 80992752 G A rs370619047 ANTXR2 Nonsynonymous SNV A70V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.637 89118 chr16 3544746 3544746 G A rs200041850 C16orf90 Nonsynonymous SNV R60C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 89119 chr4 87622624 87622624 G A rs61730646 PTPN13 Nonsynonymous SNV G289S 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 0.914 89120 chr5 174948943 174948943 C T rs34907038 SFXN1 Nonsynonymous SNV T223I 0.017 0.01 0 11 20 4 0.028 0 0 0 0 0 31 89121 chr5 175793499 175793499 G A rs201787452 ARL10 Synonymous SNV K100K 0 0.005 0 0 0 2 0 0 0 0 0 0 12.74 89122 chr3 81698119 81698119 C T rs17019144 GBE1 Synonymous SNV K193K 0.013 0.013 0.027 0 15 5 0 8 1 0 0 0 Benign 12.21 89123 chr3 93733695 93733695 A G rs200154839 STX19 Nonsynonymous SNV M140T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 89124 chr4 88973228 88973228 T C rs147630070 PKD2 Nonsynonymous SNV F545S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 89125 chr5 176522335 176522335 C T rs150885537 FGFR4 Synonymous SNV N468N 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 9.764 89126 chr4 85555009 85555009 G A rs778132229 CDS1 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 89127 chr3 9970063 9970063 G A rs145516404 IL17RC Nonsynonymous SNV A278T 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 Benign 13.37 89128 chr4 949625 949625 C T rs34322727 TMEM175 Synonymous SNV A181A 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 10.82 89129 chr5 176764436 176764436 G A rs11541335 LMAN2 Synonymous SNV G201G 0.014 0.008 0.024 7 16 3 0.018 7 0 0 0 0 11.83 89130 chr17 19474875 19474875 C T rs111653425 SLC47A1 Nonsynonymous SNV A465V 0.005 0 0 4 6 0 0.01 0 0 0 0 0 24.6 89131 chr2 239007163 239007163 C A rs73098352 UBE2F-SCLY 0 0 0.037 0 0 0 0 11 0 0 3 0 5.042 89132 chr5 178413163 178413163 G C rs62638623 GRM6 Nonsynonymous SNV L698V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.61 89133 chr3 9991425 9991425 G A rs76098202 PRRT3 Synonymous SNV H125H 0.014 0.013 0.01 3 17 5 0.008 3 0 0 0 0 0.07 89134 chr5 1038383 1038383 G A rs35320140 NKD2 Synonymous SNV T417T 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 3.926 89135 chr2 239161582 239161582 G A rs116038195 PER2 Nonsynonymous SNV R1028W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 89136 chr16 11792005 11792005 G A rs772014015 TXNDC11 Synonymous SNV A147A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 89137 chr4 95223298 95223298 G A rs760667106 HPGDS Nonsynonymous SNV S145F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 89138 chr2 240085615 240085615 G A rs765549647 HDAC4 Synonymous SNV A165A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 89139 chr2 240882476 240882476 G A rs78832554 MIR4786 0 0 0.027 0 0 0 0 8 0 0 1 0 4.131 89140 chr4 981672 981672 C T rs138932617 IDUA Synonymous SNV G78G 0.009 0.016 0.003 2 10 6 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.69 89141 chr4 104577415 104577415 C T rs144292455 TACR3 Stop gain W275X 0 0 0 2 0 0 0.005 0 0 0 0 0 Pathogenic 45 89142 chr16 15728652 15728654 AAC - rs750031665 MARF1 L324del 0.001 0 0 0 1 0 0 0 0 0 0 0 89143 chr5 150028002 150028002 G A rs201766640 SYNPO Synonymous SNV P55P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.032 89144 chr5 180432825 180432825 G A rs774633909 BTNL3 Nonsynonymous SNV E452K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.653 89145 chr4 108866485 108866485 T C rs148477072 CYP2U1 Nonsynonymous SNV F284L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 89146 chr4 103531736 103531736 A G rs138657975 NFKB1 Synonymous SNV A743A 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 Likely benign 7.903 89147 chr16 18858918 18858918 G A rs377079321 SMG1 Synonymous SNV L1951L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 89148 chr4 109086280 109086280 C T rs61752607 LEF1 Nonsynonymous SNV D85N 0.009 0.013 0.01 7 11 5 0.018 3 0 0 0 0 Benign 23.7 89149 chr2 241973223 241973223 C T rs61746865 SNED1 Synonymous SNV I191I 0.026 0.023 0.037 10 30 9 0.026 11 0 1 0 0 12.06 89150 chr4 1066769 1066769 C T rs17728127 RNF212 Nonsynonymous SNV V263I 0.024 0.016 0.02 10 28 6 0.026 6 1 0 0 1 0.005 89151 chr4 113189560 113189560 C T rs552933023 AP1AR Stop gain R269X 0.001 0 0 4 1 0 0.01 0 0 0 0 0 40 89152 chr2 242674682 242674682 C G rs4675887 D2HGDH Nonsynonymous SNV R15G 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 18.09 89153 chr5 148756437 148756437 C T rs758090942 IL17B Nonsynonymous SNV R6H 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 89154 chr17 28644253 28644253 T G rs766734087 TMIGD1 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 25.7 89155 chr2 242945309 242945309 T G rs10189267 LOC285097 0 0 0.014 0 0 0 0 4 0 0 1 0 0.489 89156 chr5 1219021 1219021 G A rs146143094 SLC6A19 Nonsynonymous SNV V393M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 89157 chr16 24582230 24582230 A G RBBP6 Synonymous SNV K1247K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.645 89158 chr4 120463726 120463726 T C rs201438950 PDE5A Nonsynonymous SNV N487S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 89159 chr5 115177803 115177803 - A rs377617825 AP3S1 Frameshift insertion S24Kfs*2 0.015 0.013 0 3 18 5 0.008 0 0 0 0 0 89160 chr5 115177805 115177805 - GAAGATACACAACAGCAAATCATCAGGGA AP3S1 0.003 0 0 0 3 0 0 0 0 0 0 0 89161 chr16 24950845 24950845 C T rs145791095 ARHGAP17 Nonsynonymous SNV A522T 0.004 0.01 0.01 6 5 4 0.015 3 0 0 0 0 22.3 89162 chr5 36171753 36171753 T C rs144572232 SKP2 Synonymous SNV H59H 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.575 89163 chr4 121958769 121958769 A T rs370720714 NDNF Nonsynonymous SNV N119K 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 7.001 89164 chr5 121786959 121786959 G A rs140850272 SNCAIP Nonsynonymous SNV R402H 0.015 0.01 0.014 9 18 4 0.023 4 0 0 0 0 Benign 33 89165 chr5 130769142 130769142 G C rs369864774 RAPGEF6 Nonsynonymous SNV H1319D 0.006 0.013 0 0 7 5 0 0 0 0 0 0 14.17 89166 chr5 150726946 150726946 T C rs34388792 SLC36A2 Nonsynonymous SNV S26G 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 21.4 89167 chr5 123983718 123983718 G A ZNF608 Nonsynonymous SNV P787S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 89168 chr5 150946678 150946678 A G rs758593796 FAT2 Synonymous SNV N605N 0 0.008 0 0 0 3 0 0 0 0 0 0 0.008 89169 chr5 5140636 5140636 C G ADAMTS16 Nonsynonymous SNV A19G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 89170 chr5 127744469 127744469 G A rs28763954 FBN2 Nonsynonymous SNV P326S 0.011 0.008 0.014 1 13 3 0.003 4 0 0 0 0 Benign/Likely benign 18.63 89171 chr17 35376351 35376351 C T rs17139107 AATF Synonymous SNV N482N 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 12.17 89172 chr4 129208649 129208649 C T rs3733261 PGRMC2 Synonymous SNV K99K 0.013 0.018 0 6 15 7 0.015 0 0 0 0 0 13.25 89173 chr17 35985983 35985983 T C rs61749870 DDX52 Nonsynonymous SNV K365R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.343 89174 chr2 32703824 32703824 T C rs764261702 BIRC6 Nonsynonymous SNV I2397T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 89175 chr16 31196423 31196423 T C rs781445592 FUS Synonymous SNV G228G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.099 89176 chr5 131926985 131926985 C G rs587781749 RAD50 Nonsynonymous SNV Q508E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.65 89177 chr5 132535341 132535341 G T rs763687780 FSTL4 Nonsynonymous SNV Q659K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 89178 chr4 140046466 140046466 A C rs115767880 ELF2 Synonymous SNV S30S 0.006 0.005 0 4 7 2 0.01 0 0 0 0 1 2.567 89179 chr5 137680762 137680762 C T rs200104466 FAM53C Nonsynonymous SNV R129C 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 25.7 89180 chr16 48210878 48210878 - TT ABCC11 Frameshift insertion R1166Tfs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 89181 chr2 37505130 37505130 G A PRKD3 Nonsynonymous SNV P392L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 89182 chr2 38545713 38545713 C T rs199804672 ATL2 Synonymous SNV T18T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.63 89183 chr2 42275664 42275664 T C rs187184761 PKDCC Nonsynonymous SNV S109P 0.003 0.003 0.024 2 3 1 0.005 7 1 0 0 1 12.4 89184 chr4 153874666 153874666 G A rs61753649 FHDC1 Nonsynonymous SNV A172T 0.014 0.013 0.014 8 16 5 0.021 4 0 0 0 0 29.8 89185 chr4 143029331 143029331 G A INPP4B Synonymous SNV V763V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 89186 chr5 137515500 137515500 C T rs150704301 KIF20A Nonsynonymous SNV S44F 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 Likely benign 29.4 89187 chr16 57286172 57286172 G A rs141271547 ARL2BP Nonsynonymous SNV R162Q 0.005 0.003 0.003 1 6 1 0.003 1 1 0 0 0 Benign 18.88 89188 chr5 177651549 177651549 G A rs144422984 PHYKPL Nonsynonymous SNV T132I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.7 89189 chr2 47287944 47287944 C G rs779553048 TTC7A Nonsynonymous SNV A376G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 89190 chr17 39305577 39305577 C T rs781567957 KRTAP4-5 Nonsynonymous SNV R148H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 89191 chr4 153691155 153691155 A G rs144040737 TIGD4 Synonymous SNV L334L 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 0.001 89192 chr5 169675739 169675739 A G rs187889192 LCP2 Nonsynonymous SNV Y522H 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24 89193 chr16 58705081 58705081 G A rs143684477 SLC38A7 Nonsynonymous SNV R367W 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 89194 chr4 15688796 15688796 G A rs747505680 FAM200B Nonsynonymous SNV D66N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 89195 chr17 39502811 39502811 C A rs200078414 KRT33A Nonsynonymous SNV R329L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 89196 chr16 67237436 67237436 C T rs376259103 ELMO3 Nonsynonymous SNV R634C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 89197 chr2 61404931 61404931 A T rs2600667 AHSA2P 0 0 0.068 0 0 0 0 20 0 0 8 0 2.789 89198 chr16 67314147 67314147 C T rs375830696 PLEKHG4 Nonsynonymous SNV S67F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.63 89199 chr5 176332446 176332446 T G rs145704288 UIMC1 Nonsynonymous SNV Q666P 0.005 0.021 0.01 2 6 8 0.005 3 0 0 0 0 10.12 89200 chr4 169353717 169353717 C T rs61746528 DDX60L Nonsynonymous SNV D469N 0 0 0 3 0 0 0.008 0 0 0 0 0 23.5 89201 chr5 140788007 140788007 G C rs574019995 PCDHGB6 Nonsynonymous SNV E80Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 8.324 89202 chr16 69355000 69355000 G A rs370027890 VPS4A Nonsynonymous SNV A300T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 89203 chr5 78533488 78533488 A C rs201323258 JMY Synonymous SNV R339R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.186 89204 chr5 140625629 140625629 C T rs150283740 PCDHB15 Synonymous SNV D161D 0.013 0 0.014 6 15 0 0.015 4 0 0 0 0 13.52 89205 chr5 140719866 140719866 C T rs141105367 PCDHGA2 Nonsynonymous SNV A443V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 89206 chr4 177084328 177084328 C T rs146440894 WDR17 Synonymous SNV R958R 0.006 0 0 6 7 0 0.015 0 0 0 0 0 12.07 89207 chr5 7895942 7895942 G A rs139206262 MTRR Synonymous SNV P551P 0.008 0.005 0.017 2 9 2 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 10.56 89208 chr5 79048608 79048608 C T rs745748547 CMYA5 Stop gain Q3701X 0 0.003 0 0 0 1 0 0 0 0 0 0 59 89209 chr5 147451736 147451736 - G rs766893577 SPINK5 Frameshift insertion A80Gfs*19 0.004 0 0 2 5 0 0.005 0 0 0 0 0 89210 chr17 39919560 39919560 C T rs199826380 JUP Nonsynonymous SNV S391N 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.12 89211 chr16 71884587 71884587 C T rs547099255 ATXN1L Nonsynonymous SNV S315F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.67 89212 chr5 140812411 140812411 A G rs113107293 PCDHGA12 Synonymous SNV V695V 0.016 0.01 0.017 6 19 4 0.015 5 0 0 0 0 0.271 89213 chr5 140812597 140812597 T C rs116611363 PCDHGA12 Synonymous SNV V757V 0.016 0.01 0.007 3 19 4 0.008 2 0 0 0 0 0.014 89214 chr5 140812600 140812600 C T rs115990854 PCDHGA12 Synonymous SNV S758S 0.016 0.01 0.007 3 19 4 0.008 2 0 0 0 0 11.04 89215 chr4 174449945 174449945 C T rs751134778 HAND2 Nonsynonymous SNV A166T 0.004 0 0 0 5 0 0 0 0 0 0 0 23.4 89216 chr5 178634558 178634558 C T rs376856341 ADAMTS2 Nonsynonymous SNV G283R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 34 89217 chr5 140856371 140856371 A G PCDHGC3 Nonsynonymous SNV I230V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 89218 chr16 72133120 72133120 G A rs61749037 DHX38 Nonsynonymous SNV E301K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Likely benign 20.9 89219 chr5 38418311 38418311 C A rs146754357 EGFLAM Nonsynonymous SNV D312E 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 26 89220 chr5 79855812 79855812 A G rs769532469 ANKRD34B Synonymous SNV S9S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.316 89221 chr5 38957820 38957820 A T rs41271103 RICTOR Synonymous SNV I811I 0.018 0.01 0.003 5 21 4 0.013 1 2 0 0 1 Benign 8.425 89222 chr17 40950108 40950108 G C rs150778923 COA3 Nonsynonymous SNV R98G 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 24 89223 chr5 40852774 40852774 T C rs143022216 CARD6 Nonsynonymous SNV L447P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.6 89224 chr5 40854296 40854296 C G rs201446776 CARD6 Nonsynonymous SNV H954Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.036 89225 chr2 71801427 71801427 C T rs758284713 DYSF Nonsynonymous SNV R1078C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 35 89226 chr5 14287007 14287007 G A rs145882464 TRIO Synonymous SNV T125T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 89227 chr5 41008848 41008848 G A rs185546559 MROH2B Synonymous SNV T1156T 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 8.897 89228 chr5 41019081 41019081 G A rs139957096 MROH2B Synonymous SNV N827N 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 1.02 89229 chr5 41038962 41038962 G T rs151096065 MROH2B Nonsynonymous SNV T697N 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 22 89230 chr5 145383694 145383694 T C rs142753699 SH3RF2 Nonsynonymous SNV I241T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.1 89231 chr2 75937874 75937874 C T rs758875484 GCFC2 Synonymous SNV P36P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 89232 chr17 41925946 41925946 C A CD300LG Nonsynonymous SNV P22T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 89233 chr5 146763986 146763986 C T rs146136464 STK32A Nonsynonymous SNV S404L 0.039 0.023 0.068 7 46 9 0.018 20 1 0 0 0 2.55 89234 chr5 89989749 89989749 C T rs111033452 ADGRV1 Synonymous SNV S2392S 0.01 0.013 0.024 5 12 5 0.013 7 0 0 0 0 Benign/Likely benign 13.57 89235 chr5 1878325 1878325 C T rs201914951 IRX4 Nonsynonymous SNV D440N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.8 89236 chr4 185582954 185582954 T C rs142122035 PRIMPOL Nonsynonymous SNV V102A 0.009 0.008 0.014 2 11 3 0.005 4 0 0 0 0 26.2 89237 chr2 85617353 85617353 G A rs148789800 ELMOD3 Nonsynonymous SNV R303Q 0 0 0.007 0 0 0 0 2 0 0 0 0 14.08 89238 chr17 42433865 42433865 C T rs9898394 FAM171A2 Synonymous SNV T177T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.06 89239 chr5 90052435 90052435 T C rs201453118 ADGRV1 Synonymous SNV F3915F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.283 89240 chr17 42636442 42636442 C A rs61736389 FZD2 Synonymous SNV I462I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 20.1 89241 chr17 42734498 42734498 A G rs372362075 MEIOC Nonsynonymous SNV K25E 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.6 89242 chr5 90445889 90445889 A G rs77469944 ADGRV1 Nonsynonymous SNV M6159V 0.008 0.013 0.007 3 9 5 0.008 2 0 0 0 0 Benign 10.18 89243 chr2 85892451 85892451 G A rs35049407 SFTPB Synonymous SNV C211C 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.883 89244 chr5 150657118 150657118 C T rs767693076 SLC36A3 Nonsynonymous SNV V417I 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 0.04 89245 chr17 42992759 42992759 A G rs60045579 GFAP Synonymous SNV G32G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 7.93 89246 chr17 43220845 43220845 C G rs143988275 ACBD4 Nonsynonymous SNV P288R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.4 89247 chr16 84089622 84089622 C T rs146299475 MBTPS1 Nonsynonymous SNV D984N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 24.4 89248 chr17 43347932 43347932 - G rs780547942 MAP3K14 0.001 0 0 1 1 0 0.003 0 0 0 0 0 89249 chr4 24810347 24810347 T C rs61734397 CCDC149 Synonymous SNV P418P 0.006 0.005 0 10 7 2 0.026 0 0 0 0 0 0.915 89250 chr2 95952248 95952248 C T rs540555921 PROM2 Nonsynonymous SNV R657W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.9 89251 chr2 96907660 96907660 G A rs112916275 STARD7-AS1 0 0 0.041 0 0 0 0 12 0 0 0 0 0.754 89252 chr5 150439887 150439887 T G rs757355605 TNIP1 Nonsynonymous SNV N90H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 89253 chr17 47794909 47794909 G A rs16948341 FAM117A Synonymous SNV A292A 0.015 0.023 0.014 7 18 9 0.018 4 0 1 0 0 13.2 89254 chr2 99980189 99980189 A G EIF5B Nonsynonymous SNV K334R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 89255 chr4 24838886 24838886 C T rs770122005 CCDC149 Nonsynonymous SNV R209H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 89256 chr4 3520625 3520625 G A rs913105209 LRPAP1 Synonymous SNV L189L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.27 89257 chr3 101540648 101540648 G C rs375049512 NXPE3 Synonymous SNV R441R 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 5.768 89258 chr3 10387730 10387730 G A rs141009802 ATP2B2 Synonymous SNV D787D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 89259 chr16 85687982 85687982 C G rs200380779 GSE1 Nonsynonymous SNV H71Q 0.005 0 0 0 6 0 0 0 0 0 0 0 18.36 89260 chr6 10898308 10898308 C T rs189323193 SYCP2L Nonsynonymous SNV S134L 0.009 0.005 0.014 2 10 2 0.005 4 0 0 0 0 12.01 89261 chr4 3076619 3076624 CAGCAG - HTT Q37_Q38del 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 89262 chr6 110935837 110935837 G A rs149781625 CDK19 Synonymous SNV S426S 0.005 0.008 0.003 0 6 3 0 1 1 0 0 0 11.35 89263 chr3 111831723 111831723 - A rs550597963 MIR567 0 0 0.01 0 0 0 0 3 0 0 0 0 89264 chr5 16676247 16676247 G A rs61744227 MYO10 Nonsynonymous SNV S1520L 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 Benign 21.5 89265 chr4 40104739 40104739 C A rs62621880 N4BP2 Nonsynonymous SNV T425N 0.004 0 0 3 5 0 0.008 0 0 0 0 0 6.971 89266 chr3 112356977 112356977 T C rs35149092 CCDC80 Synonymous SNV E592E 0.001 0.003 0.014 1 1 1 0.003 4 0 0 0 0 1.366 89267 chr17 56382477 56382477 C T rs2301868 TSPOAP1 Nonsynonymous SNV G1770E 0.021 0.013 0.037 9 25 5 0.023 11 0 0 0 0 25.2 89268 chr5 74645872 74645872 C T HMGCR Nonsynonymous SNV R188C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 89269 chr17 56395683 56395683 G A rs2072148 TSPOAP1 Synonymous SNV S550S 0.024 0.016 0.034 12 28 6 0.031 10 0 0 0 0 13.41 89270 chr17 56395757 56395757 C T rs2072147 TSPOAP1 Nonsynonymous SNV A526T 0.023 0.016 0.034 12 27 6 0.031 10 0 0 0 0 17.08 89271 chr17 56396609 56396609 T C rs2072145 TSPOAP1 Nonsynonymous SNV Q454R 0.023 0.016 0.037 12 27 6 0.031 11 0 0 0 0 9.233 89272 chr17 56405024 56405024 G A rs61743272 TSPOAP1 Synonymous SNV S86S 0.02 0.013 0.041 8 24 5 0.021 12 1 0 0 0 3.205 89273 chr17 56536256 56536256 C T rs140094348 HSF5 Synonymous SNV P531P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.37 89274 chr3 113049117 113049117 C T CFAP44 Synonymous SNV K1338K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.869 89275 chr5 175998280 175998280 G A rs199903767 CDHR2 Nonsynonymous SNV A128T 0.003 0 0 0 4 0 0 0 0 0 0 0 6.784 89276 chr3 113303602 113303602 T C rs769028272 SIDT1 Nonsynonymous SNV V236A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.34 89277 chr17 58329765 58329765 C T rs61751977 USP32 Synonymous SNV P371P 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 17.23 89278 chr5 176893956 176893956 G A rs372439938 DBN1 Synonymous SNV R221R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.74 89279 chr4 46043222 46043222 A G rs149632298 GABRG1 Nonsynonymous SNV I394T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.18 89280 chr5 176915112 176915112 C T rs776416794 PDLIM7 Nonsynonymous SNV R336H 0.003 0 0 0 3 0 0 0 0 0 0 0 17.69 89281 chr6 123869671 123869671 A C TRDN Nonsynonymous SNV F107V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 89282 chr4 54218834 54218834 G A rs147606542 SCFD2 Nonsynonymous SNV A313V 0.018 0.018 0.01 10 21 7 0.026 3 0 0 0 0 13.64 89283 chr4 54244053 54244053 G C rs376917506 FIP1L1 Synonymous SNV G16G 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.604 89284 chr17 61566095 61566095 A G rs117647476 ACE Nonsynonymous SNV I224V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 0.05 89285 chr3 120768492 120768492 A G rs9877402 MIR5682 0 0 0.027 0 0 0 0 8 0 0 1 0 0.598 89286 chr6 129612765 129612765 G T rs35277491 LAMA2 Nonsynonymous SNV R919L 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Benign/Likely benign 19.84 89287 chr5 68709884 68709884 G A rs35440980 RAD17 Nonsynonymous SNV R604K 0.024 0.01 0.014 5 28 4 0.013 4 0 0 0 0 10.5 89288 chr4 53610894 53610894 G C rs553326506 ERVMER34-1 Nonsynonymous SNV A265G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 89289 chr4 55604597 55604597 T A rs72549296 KIT Synonymous SNV I935I 0.01 0.016 0.017 4 12 6 0.01 5 0 0 0 0 Benign/Likely benign 14.16 89290 chr3 121713082 121713082 G A rs201585253 ILDR1 Nonsynonymous SNV A153V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 89291 chr5 70931039 70931039 G A rs746549438 MCCC2 Nonsynonymous SNV G284D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 89292 chr4 5975455 5975455 C T rs114112017 C4orf50 Synonymous SNV A1166A 0.011 0.005 0.007 9 13 2 0.023 2 0 0 0 0 10.46 89293 chr6 133073674 133073674 T C VNN2 Nonsynonymous SNV H251R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 89294 chr5 73048819 73048819 G A rs17552682 ARHGEF28 Synonymous SNV V89V 0.02 0.018 0.017 2 24 7 0.005 5 0 0 0 0 Benign 11.77 89295 chr3 122605544 122605544 G A rs9864868 LINC02035 0 0 0.085 0 0 0 0 25 0 0 10 0 5.619 89296 chr4 62800624 62800624 A G rs61747658 ADGRL3 Nonsynonymous SNV T641A 0.013 0.008 0.017 7 15 3 0.018 5 0 0 0 0 0.03 89297 chr17 975983 975983 C T ABR Synonymous SNV K37K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 89298 chr5 9052100 9052100 G T SEMA5A Synonymous SNV A910A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.239 89299 chr3 123471302 123471302 G A rs149179973 MYLK Synonymous SNV C83C 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 4.079 89300 chr5 74807261 74807261 G T CERT1 Synonymous SNV G52G 0.006 0.005 0 0 7 2 0 0 0 0 0 0 2.033 89301 chr6 1394936 1394936 C A rs747690002 FOXF2 Nonsynonymous SNV L393M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 89302 chr17 1564331 1564331 T C PRPF8 Synonymous SNV T1488T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.461 89303 chr17 67286044 67286044 C G ABCA5 Nonsynonymous SNV A581P 0.001 0 0 0 1 0 0 0 0 0 0 0 29 89304 chr5 32784907 32784907 G A rs146301345 NPR3 Nonsynonymous SNV G221S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 25.6 89305 chr3 124515498 124515498 T C rs2291087 ITGB5 Nonsynonymous SNV N324S 0.021 0.034 0.02 2 25 13 0.005 6 0 0 0 0 0.002 89306 chr3 124515646 124515646 A C rs2291090 ITGB5 Nonsynonymous SNV L275V 0.02 0.034 0.02 2 24 13 0.005 6 0 0 0 0 11.87 89307 chr4 62758491 62758491 G A rs35106420 ADGRL3 Nonsynonymous SNV R460Q 0.018 0.016 0.007 0 21 6 0 2 0 0 0 0 21.4 89308 chr5 76932846 76932846 G T rs143794465 OTP Nonsynonymous SNV Q83K 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 15.15 89309 chr6 144860452 144860452 T A rs747044128 UTRN Nonsynonymous SNV V2131E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.037 89310 chr3 126137456 126137456 T C rs76764772 CFAP100 Synonymous SNV Y163Y 0.004 0 0.017 0 5 0 0 5 0 0 0 0 0.004 89311 chr4 6599928 6599928 C A rs73209757 MAN2B2 Nonsynonymous SNV Q367K 0.007 0.005 0.017 1 8 2 0.003 5 0 0 0 0 25.9 89312 chr17 1945347 1945347 C T rs201424118 OVCA2 Synonymous SNV A2A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.56 89313 chr3 127295084 127295084 C T rs920233 TPRA1 Synonymous SNV P171P 0 0 0.031 0 0 0 0 9 0 0 1 0 2.289 89314 chr3 127983506 127983506 C T rs142548867 EEFSEC Nonsynonymous SNV P223L 0.001 0.005 0.014 1 1 2 0.003 4 0 0 0 0 28.5 89315 chr17 2233869 2233869 G A rs111973646 TSR1 Synonymous SNV V570V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.111 89316 chr17 2808648 2808648 C T rs200197822 RAP1GAP2 Nonsynonymous SNV P51S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.7 89317 chr4 71892443 71892443 A C rs369967087 DCK Nonsynonymous SNV K243Q 0 0 0 4 0 0 0.01 0 0 0 0 0 17.17 89318 chr6 10874905 10874905 A C rs61734277 GCM2 Nonsynonymous SNV Y282D 0.015 0.021 0.003 7 18 8 0.018 1 0 0 0 0 Benign 11.37 89319 chr6 10877624 10877624 T C GCM2 Nonsynonymous SNV E31G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.01 89320 chr5 79029531 79029531 A G rs115952199 CMYA5 Nonsynonymous SNV Q1648R 0.01 0.005 0.01 1 12 2 0.003 3 0 0 0 0 Likely benign 14.65 89321 chr5 38921864 38921864 G A rs144394280 OSMR Nonsynonymous SNV G578D 0.018 0.021 0.017 3 21 8 0.008 5 0 0 0 0 23.8 89322 chr17 3477195 3477195 G A rs199539626 TRPV1 Nonsynonymous SNV T612M 0.004 0.008 0.003 7 5 3 0.018 1 0 0 0 0 Likely benign 7.423 89323 chr17 72860654 72860654 G A rs2070921 FDXR Synonymous SNV A210A 0.012 0.016 0.014 4 14 6 0.01 4 0 0 0 0 7.485 89324 chr6 15533476 15533476 C T rs76349207 DTNBP1 Nonsynonymous SNV R186Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 26.5 89325 chr4 75174838 75174838 C T rs148495973 EPGN Synonymous SNV A24A 0.005 0.013 0 5 6 5 0.013 0 0 0 0 0 15.04 89326 chr4 77662268 77662268 C T rs557095145 SHROOM3 Nonsynonymous SNV T981M 0 0 0 4 0 0 0.01 0 0 0 0 0 24.4 89327 chr17 73898131 73898131 C G rs138500724 MRPL38 Nonsynonymous SNV E118Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 89328 chr6 158924470 158924470 G A rs150378179 TULP4 Nonsynonymous SNV A1259T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 89329 chr5 54423155 54423155 G A rs145168670 CDC20B Nonsynonymous SNV R307W 0.011 0.008 0.007 5 13 3 0.013 2 0 0 0 0 25.5 89330 chr17 74076020 74076020 G A rs144683704 ZACN Nonsynonymous SNV A107T 0.007 0 0 2 8 0 0.005 0 0 0 0 0 3.247 89331 chr6 117592180 117592180 G T rs758903323 VGLL2 Nonsynonymous SNV S289I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.9 89332 chr3 139077987 139077987 T C rs768558522 COPB2 Synonymous SNV K779K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.736 89333 chr5 55201941 55201941 G A rs751019344 IL31RA Synonymous SNV Q340Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.207 89334 chr3 140281972 140281972 T A rs201356149 CLSTN2 Nonsynonymous SNV H803Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 89335 chr4 79503402 79503402 A G rs5946 ANXA3 Synonymous SNV P90P 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 14.86 89336 chr5 55212675 55212675 C T rs140132589 IL31RA Synonymous SNV C655C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 2.976 89337 chr4 79507419 79507419 G T rs17003370 ANXA3 Synonymous SNV A106A 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 8.664 89338 chr4 81124133 81124133 G A PRDM8 Nonsynonymous SNV R506H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 89339 chr17 76046676 76046676 C A rs72894058 TNRC6C Nonsynonymous SNV N511K 0.015 0.008 0.02 2 18 3 0.005 6 0 0 0 0 12.75 89340 chr5 64020240 64020240 G T SREK1IP1 Nonsynonymous SNV P147T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.003 89341 chr5 93859799 93859799 T C rs2044909 KIAA0825 Nonsynonymous SNV K46E 0.005 0.005 0.003 7 6 2 0.018 1 1 0 0 0 11.51 89342 chr5 94764366 94764366 G A rs1541797 FAM81B Nonsynonymous SNV R239Q 0.005 0.01 0.017 2 6 4 0.005 5 0 0 0 0 4.945 89343 chr6 161781225 161781225 C T rs1801334 PRKN Nonsynonymous SNV D245N 0.02 0.034 0.034 9 24 13 0.023 10 0 0 0 0 Benign 23 89344 chr6 131186718 131186718 T A rs149001048 EPB41L2 Synonymous SNV T630T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.48 89345 chr5 64314057 64314057 C G CWC27 Nonsynonymous SNV T443R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 89346 chr5 96112168 96112168 C T rs200883678 ERAP1 Nonsynonymous SNV G920S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24.7 89347 chr6 16306977 16306977 T C rs34324423 ATXN1 Synonymous SNV S677S 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 1.238 89348 chr4 83970472 83970472 - A rs572951546 COPS4 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 89349 chr6 132645210 132645210 A G rs61745246 MOXD1 Synonymous SNV L325L 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 10.16 89350 chr3 149376058 149376058 T G rs6799753 WWTR1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.764 89351 chr3 149498097 149498097 T C rs62622807 ANKUB1 Nonsynonymous SNV Y127C 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 23.4 89352 chr5 70936845 70936845 G A rs150591260 MCCC2 Nonsynonymous SNV V301M 0.008 0 0 3 9 0 0.008 0 0 0 0 0 Pathogenic/Likely pathogenic 33 89353 chr4 85657422 85657422 T C WDFY3 Synonymous SNV K2272K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.918 89354 chr6 137193388 137193388 T C rs774767950 PEX7 Nonsynonymous SNV V267A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 89355 chr3 15297787 15297787 T C rs116459865 SH3BP5 Nonsynonymous SNV N235D 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 20.3 89356 chr17 77808241 77808249 GTGGTGGTG - rs3833850 CBX4 H398_H400del 0.007 0.018 0.003 3 8 7 0.008 1 0 0 0 0 89357 chr3 156763332 156763332 A C rs142759712 LEKR1 Nonsynonymous SNV R624S 0 0 0.007 0 0 0 0 2 0 0 0 0 2.145 89358 chr6 142455824 142455824 C A GJE1 Nonsynonymous SNV A128E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 89359 chr6 17601186 17601186 C T rs374944606 FAM8A1 Synonymous SNV A182A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 89360 chr3 161063884 161063884 A G rs137885746 SPTSSB Synonymous SNV N76N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.003 89361 chr3 161147203 161147203 A G rs779685588 LINC02067 0 0 0.126 0 0 0 0 37 0 0 0 0 13.57 89362 chr3 161147204 161147204 G A rs746634888 LINC02067 0 0 0.129 0 0 0 0 38 0 0 0 0 15.04 89363 chr3 161147214 161147214 G T rs781660167 LINC02067 0 0 0.173 0 0 0 0 51 0 0 0 0 13.98 89364 chr3 161147216 161147216 T A rs748432672 LINC02067 0 0 0.18 0 0 0 0 53 0 0 0 0 15.66 89365 chr3 161147219 161147219 C T rs778414988 LINC02067 0 0 0.204 0 0 0 0 60 0 0 0 0 14.64 89366 chr4 89018676 89018676 C T ABCG2 Nonsynonymous SNV A526T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 89367 chr3 161147223 161147223 G C rs749388663 LINC02067 0 0 0.211 0 0 0 0 62 0 0 0 0 11.86 89368 chr17 7287832 7287832 C A rs61730812 TNK1 Nonsynonymous SNV A299D 0.01 0.01 0.01 2 12 4 0.005 3 0 0 0 0 33 89369 chr6 146755561 146755561 C G rs146753539 GRM1 Nonsynonymous SNV P1072A 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 Benign/Likely benign 6.536 89370 chr5 78135241 78135241 C T rs25414 ARSB Nonsynonymous SNV S384N 0.043 0.047 0.034 15 51 18 0.038 10 2 0 2 0 Benign/Likely benign 18.8 89371 chr4 93225894 93225894 C T rs77619135 GRID2 Synonymous SNV I29I 0 0 0 6 0 0 0.015 0 0 0 0 0 20.2 89372 chr4 94137954 94137954 G A rs75225211 GRID2 Synonymous SNV R190R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 14.06 89373 chr4 94750515 94750515 G C rs376812790 ATOH1 Synonymous SNV R146R 0 0 0 5 0 0 0.013 0 0 0 0 0 5.846 89374 chr6 11094595 11094595 C T rs539522616 SMIM13 Synonymous SNV L17L 0.001 0.016 0.003 2 1 6 0.005 1 0 0 0 0 14.36 89375 chr5 76934363 76934363 A G rs35976259 OTP Synonymous SNV H4H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.291 89376 chr5 77298804 77298804 C T rs34089426 AP3B1 Synonymous SNV Q1020Q 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 4.42 89377 chr6 25726689 25726689 C T rs748710924 H2AC1 Nonsynonymous SNV G23S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 89378 chr4 96140260 96140260 G C UNC5C Nonsynonymous SNV S502C 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 26.6 89379 chr5 79026187 79026187 A G rs17253860 CMYA5 Synonymous SNV E533E 0.022 0.018 0.017 6 26 7 0.015 5 0 0 0 0 8.336 89380 chr6 26200080 26200080 C T rs421153 H2BC7 Synonymous SNV A98A 0.041 0.036 0.014 14 48 14 0.036 4 3 0 0 0 18.98 89381 chr5 101631832 101631832 C T rs139849649 SLCO4C1 Synonymous SNV Q45Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.32 89382 chr5 10649540 10649540 C A ANKRD33B Nonsynonymous SNV P267H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 8.881 89383 chr5 110074864 110074864 G A rs372382932 SLC25A46 Nonsynonymous SNV R15Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.6 89384 chr3 183526624 183526624 C A rs263026 YEATS2-AS1 0 0 0.092 0 0 0 0 27 0 0 12 0 7.388 89385 chr6 3152781 3152781 A G rs140507260 BPHL Nonsynonymous SNV N283S 0.009 0.01 0.007 2 10 4 0.005 2 0 0 0 0 25.7 89386 chr5 111611089 111611089 T C rs777261583 EPB41L4A Nonsynonymous SNV Y90C 0 0 0 1 0 0 0.003 0 0 0 0 0 27 89387 chr17 9676115 9676115 C G rs144431013 DHRS7C Nonsynonymous SNV E232D 0.024 0.026 0.017 11 28 10 0.028 5 0 0 0 0 10.29 89388 chr5 94927215 94927215 A G rs143306500 ARSK Nonsynonymous SNV S328G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 89389 chr6 35211864 35211864 C G rs41270058 SCUBE3 Synonymous SNV T731T 0.009 0.013 0.003 4 11 5 0.01 1 0 0 0 0 3.519 89390 chr3 184971025 184971025 A - rs879065101 MIR5588 0 0 0.071 0 0 0 0 21 0 0 0 0 89391 chr6 35392369 35392369 C T rs77124831 PPARD Synonymous SNV I199I 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 14.4 89392 chr17 10450808 10450808 G A rs140468333 MYH2 Nonsynonymous SNV A111V 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 89393 chr5 98192268 98192268 G A rs142842461 CHD1 Nonsynonymous SNV T1650M 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 16.14 89394 chr3 186793423 186793423 C T rs7629263 ST6GAL1 Synonymous SNV D351D 0.009 0.026 0.024 4 10 10 0.01 7 0 1 0 0 10.85 89395 chr3 186915096 186915096 A G rs1477200 LOC101929106 0 0 0.034 0 0 0 0 10 0 0 5 0 2.13 89396 chr3 186953835 186953835 A G rs7652842 MASP1 Synonymous SNV S608S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.004 89397 chr3 187088613 187088613 G A rs142974092 RTP4 Nonsynonymous SNV A65T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 89398 chr3 187896894 187896894 G A rs168267 FLJ42393 0 0 0.075 0 0 0 0 22 0 0 1 0 1.012 89399 chr17 17062007 17062007 G A rs61753577 MPRIP Synonymous SNV G729G 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 5.663 89400 chr3 187898005 187898005 C T rs344953 FLJ42393 0 0 0.071 0 0 0 0 21 0 0 0 0 9.283 89401 chr5 126674869 126674869 G A rs12654455 MEGF10 Synonymous SNV T58T 0.017 0.005 0.007 6 20 2 0.015 2 0 0 0 0 Benign 11.8 89402 chr6 37614044 37614044 C G rs192113659 MDGA1 Nonsynonymous SNV E718D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 26.7 89403 chr6 135787128 135787128 T G rs200993978 AHI1 Synonymous SNV A191A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 5.021 89404 chr3 190122573 190122573 G T rs373411163 CLDN16 Synonymous SNV A150A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 89405 chr5 127276908 127276908 C G rs61750020 CCDC192 Synonymous SNV L209L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14.38 89406 chr6 38770999 38770999 G A rs146331687 DNAH8 Synonymous SNV K765K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.05 89407 chr5 133747354 133747354 C G rs141449831 CDKN2AIPNL Synonymous SNV L64L 0.039 0.042 0.017 16 46 16 0.041 5 5 0 1 3 12.67 89408 chr6 139363974 139363974 A G rs766149541 ABRACL Synonymous SNV T60T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 4.881 89409 chr6 161519351 161519356 CTGCTG - rs768992886 MAP3K4 A1194_A1195del 0.009 0.008 0 5 10 3 0.013 0 0 0 0 0 89410 chr6 4037691 4037691 C T rs373042507 PRPF4B Synonymous SNV I433I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.382 89411 chr17 18158571 18158571 C T rs138000313 FLII Nonsynonymous SNV V74M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 89412 chr6 143092036 143092036 T G HIVEP2 Synonymous SNV P1280P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.122 89413 chr6 144800952 144800952 C T rs148321872 UTRN Nonsynonymous SNV A1114V 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 6.157 89414 chr6 108395722 108395722 T C rs202093691 OSTM1 Nonsynonymous SNV D45G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 89415 chr5 132197286 132197286 G A rs61754582 GDF9 Nonsynonymous SNV R454C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 89416 chr5 132199924 132199924 C T GDF9 Nonsynonymous SNV G101E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.6 89417 chr6 109589014 109589014 T A CCDC162P 0.007 0 0.007 2 8 0 0.005 2 0 0 0 0 12.24 89418 chr17 19618438 19618438 G A rs774663115 SLC47A2 Synonymous SNV L72L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.63 89419 chr5 137726815 137726815 A C rs141171612 KDM3B Synonymous SNV T498T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 89420 chr5 138715502 138715502 C T rs33972313 SLC23A1 Nonsynonymous SNV V264M 0.015 0.008 0.02 4 18 3 0.01 6 0 0 0 0 20 89421 chr6 111688947 111688947 T A rs17539692 REV3L Nonsynonymous SNV E2015V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 23.5 89422 chr6 116575151 116575151 G T rs2232468 TSPYL4 Synonymous SNV G7G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.083 89423 chr3 196050687 196050699 GTCACTTCTCGCA - rs781072835 TM4SF19 C181Rfs*34 0 0 0.007 2 0 0 0.005 2 0 0 0 0 89424 chr5 137680621 137680621 A G rs143912652 FAM53C Nonsynonymous SNV S82G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.699 89425 chr6 43231048 43231048 C G rs35175743 TTBK1 Nonsynonymous SNV P649R 0.015 0.031 0.031 9 18 12 0.023 9 0 0 0 0 25.9 89426 chr3 197431551 197431551 C T rs770076576 RUBCN Nonsynonymous SNV D49N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 89427 chr5 140075155 140075155 A G rs780844020 HARS2 Synonymous SNV G129G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.785 89428 chr6 116574940 116574940 C T rs149060725 TSPYL4 Nonsynonymous SNV A78T 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 8.2 89429 chr3 20179097 20179097 C T rs6787734 MIR3135A 0 0 0.085 0 0 0 0 25 0 0 0 0 3.683 89430 chr3 21447274 21447274 A C rs409972 VENTXP7 0 0 0.044 0 0 0 0 13 0 0 5 0 7.07 89431 chr6 44115192 44115192 G A rs150373871 TMEM63B Synonymous SNV K314K 0.01 0.016 0 2 12 6 0.005 0 0 0 0 0 16.95 89432 chr6 12123595 12123595 C T rs375172057 HIVEP1 Synonymous SNV D1189D 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.902 89433 chr6 12136085 12136085 C T rs763309195 HIVEP1 Synonymous SNV V2149V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.78 89434 chr6 121427283 121427283 T C rs56356586 TBC1D32 Synonymous SNV E1117E 0.019 0.023 0.037 10 22 9 0.026 11 1 0 0 0 0.011 89435 chr6 123102386 123102386 C A rs188839950 FABP7 Nonsynonymous SNV P132Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.378 89436 chr6 155504469 155504469 G A rs150560357 TIAM2 Nonsynonymous SNV G967R 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 Benign 15.18 89437 chr3 3081516 3081516 A G rs339287 CNTN4-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.371 89438 chr3 3081544 3081544 C T rs339286 CNTN4-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 2.963 89439 chr6 123892248 123892248 C G rs372554839 TRDN Nonsynonymous SNV D18H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 89440 chr5 140432626 140432626 C T rs17208383 PCDHB1 Nonsynonymous SNV A524V 0.006 0 0 1 7 0 0.003 0 0 0 0 0 24.5 89441 chr5 140515483 140515483 T C rs17096901 PCDHB5 Nonsynonymous SNV I156T 0.008 0 0 1 9 0 0.003 0 1 0 0 0 2.025 89442 chr6 157100108 157100108 G T ARID1B Nonsynonymous SNV A349S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.53 89443 chr6 119501063 119501063 T C rs369141272 MAN1A1 Nonsynonymous SNV H628R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 89444 chr5 140580493 140580493 T A rs3733688 PCDHB11 Synonymous SNV V382V 0.007 0 0 1 8 0 0.003 0 0 0 0 0 10.89 89445 chr6 12124864 12124864 G T rs746351918 HIVEP1 Synonymous SNV S1612S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.199 89446 chr5 140730667 140730667 T C rs146569254 PCDHGB1 Synonymous SNV N280N 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 0.016 89447 chr6 123332273 123332273 G A rs139717598 CLVS2 Nonsynonymous SNV S178N 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 18.06 89448 chr5 140764367 140764367 A T rs191053275 PCDHGA7 Nonsynonymous SNV D634V 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 23.8 89449 chr5 140778556 140778556 T A rs766277028 PCDHGB5 Nonsynonymous SNV F288I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.403 89450 chr6 47846079 47846079 A G rs778453418 PTCHD4 Nonsynonymous SNV I834T 0 0.005 0 1 0 2 0.003 0 0 1 0 0 25.3 89451 chr5 140779869 140779869 T C rs7701363 PCDHGB5 Synonymous SNV P725P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.321 89452 chr5 140794841 140794841 C T rs775112066 PCDHGA10 Nonsynonymous SNV A700V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 89453 chr6 126242145 126242145 C T rs36082464 NCOA7 Synonymous SNV D44D 0.008 0.003 0 2 9 1 0.005 0 1 0 0 0 13.18 89454 chr17 27901903 27901903 T C rs11548560 GIT1 Synonymous SNV S701S 0.025 0.023 0.014 5 29 9 0.013 4 0 0 0 0 2.441 89455 chr17 27963141 27963141 T C rs61737983 SSH2 Nonsynonymous SNV M676V 0.025 0.023 0.017 6 29 9 0.015 5 0 0 0 0 10.21 89456 chr5 140810773 140810773 G A rs17097300 PCDHGA12 Synonymous SNV E149E 0.014 0.005 0.007 3 16 2 0.008 2 1 0 0 0 0.04 89457 chr6 5086297 5086297 C G rs368558935 PPP1R3G Nonsynonymous SNV P193R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.254 89458 chr17 28544316 28544316 G A rs41274284 SLC6A4 Synonymous SNV H235H 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.984 89459 chr17 29654765 29654765 C A rs865839207 NF1 Synonymous SNV I1818I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.78 89460 chr18 44301384 44301384 C T rs533073664 ST8SIA5 Synonymous SNV T60T 0.009 0.013 0 4 10 5 0.01 0 1 0 0 0 12.87 89461 chr3 3887633 3887633 C T rs115354749 LRRN1 Synonymous SNV N436N 0.007 0.005 0.017 1 8 2 0.003 5 0 0 0 0 Benign 10.17 89462 chr6 139564319 139564319 C T TXLNB Nonsynonymous SNV D467N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.1 89463 chr18 44624655 44624657 GAA - rs145956232 KATNAL2 K301del 0.02 0.013 0 2 24 5 0.005 0 1 0 0 0 89464 chr17 33348429 33348429 G A RFFL Synonymous SNV A184A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.995 89465 chr6 143092151 143092151 T C rs139717578 HIVEP2 Nonsynonymous SNV Y1242C 0.033 0.029 0.024 15 39 11 0.038 7 0 0 0 0 11.77 89466 chr3 39307977 39307977 C T rs375655214 CX3CR1 Synonymous SNV V8V 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 3.421 89467 chr6 146256181 146256181 T C rs778523924 SHPRH Nonsynonymous SNV K951R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23 89468 chr3 41949348 41949348 G A rs184541140 ULK4 Nonsynonymous SNV P89S 0.002 0.005 0.017 2 2 2 0.005 5 0 0 0 0 15.4 89469 chr6 165801865 165801865 G A rs139267725 PDE10A Synonymous SNV F578F 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 12.26 89470 chr6 33703145 33703145 G A rs200080644 IP6K3 Nonsynonymous SNV H37Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.86 89471 chr6 7246759 7246759 A G rs774227531 RREB1 Nonsynonymous SNV Q1304R 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 0.135 89472 chr6 167754628 167754628 C T rs143209428 TTLL2 Synonymous SNV L414L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 4.508 89473 chr5 14461168 14461168 A G rs55812347 TRIO Synonymous SNV A1748A 0.014 0.016 0.003 4 17 6 0.01 1 1 0 0 0 10.34 89474 chr6 142455790 142455790 A G rs978201121 GJE1 Nonsynonymous SNV I117V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.095 89475 chr6 142468449 142468449 C G rs2232299 VTA1 Nonsynonymous SNV P9A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.09 89476 chr6 168457825 168457825 G A rs760029744 FRMD1 Synonymous SNV L466L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.029 89477 chr5 145838614 145838614 A G rs112714517 TCERG1 Synonymous SNV Q202Q 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 0.009 89478 chr17 37686920 37686920 C T rs34070318 CDK12 Nonsynonymous SNV P1266L 0.015 0.01 0 2 18 4 0.005 0 0 0 0 0 not provided 22.5 89479 chr5 146258290 146258290 - GCTGCTGCTGCTGCTGCTGCT rs57408722 PPP2R2B S19_C20insSSSSSSS 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 89480 chr17 37792096 37792096 C A rs79497069 PPP1R1B Nonsynonymous SNV S162Y 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 Benign 10.64 89481 chr5 147207605 147207605 G A rs35737774 SPINK1 Synonymous SNV C58C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 6.622 89482 chr5 147449923 147449923 G C rs73269156 SPINK5 Nonsynonymous SNV G40A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 24.5 89483 chr17 37865659 37865659 C T rs56114611 ERBB2 Synonymous SNV N176N 0.009 0.01 0.007 3 10 4 0.008 2 0 0 0 0 Benign 12.45 89484 chr6 170105782 170105785 CAGA - rs773826145 PHF10 Stop gain C383* 0.004 0.003 0 0 5 1 0 0 0 0 0 0 89485 chr6 148841011 148841011 C T rs13196292 SASH1 Synonymous SNV L158L 0.026 0.008 0.031 11 30 3 0.028 9 2 0 0 0 13.56 89486 chr6 17626144 17626144 T C rs142764283 NUP153 Nonsynonymous SNV T1224A 0.015 0.018 0.01 4 18 7 0.01 3 0 0 0 0 12.4 89487 chr6 7580958 7580958 A G rs2076299 DSP Nonsynonymous SNV Y1512C 0.041 0.057 0.048 12 48 22 0.031 14 2 2 0 0 Benign 8.631 89488 chr5 147505308 147505308 A G rs73271166 SPINK5 Nonsynonymous SNV N921S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.008 89489 chr6 84859300 84859300 C T rs150383742 CEP162 Nonsynonymous SNV R1175H 0 0.005 0 0 0 2 0 0 0 1 0 0 31 89490 chr6 88255368 88255368 T A RARS2 Nonsynonymous SNV R167S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 89491 chr3 46717175 46717175 C T rs142971127 ALS2CL Nonsynonymous SNV G730S 0.015 0.023 0.027 10 18 9 0.026 8 0 0 1 0 18.66 89492 chr6 40998397 40998397 T C rs749925122 UNC5CL Nonsynonymous SNV N406S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.6 89493 chr18 64235877 64235877 G A rs114375304 CDH19 Nonsynonymous SNV T89I 0.009 0 0 6 10 0 0.015 0 0 0 0 0 Benign 0.064 89494 chr3 46795085 46795085 G A rs56836203 PRSS43P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.828 89495 chr3 46795180 46795180 G A rs56695869 PRSS43P 0 0 0.01 0 0 0 0 3 0 0 0 0 2.627 89496 chr6 153296753 153296753 C A rs41302049 FBXO5 Nonsynonymous SNV C36F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.51 89497 chr6 26157099 26157099 C G rs770015565 H1-4 Nonsynonymous SNV P161A 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 12.77 89498 chr6 159134911 159134911 G - rs369429053 SYTL3 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 89499 chr6 155451036 155451036 C T rs771101798 TIAM2 Nonsynonymous SNV R227C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.65 89500 chr3 49318265 49318265 G A rs17595410 USP4 Synonymous SNV S805S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 8.893 89501 chr7 100230864 100230864 G C rs34242818 TFR2 Nonsynonymous SNV I67M 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 Benign 21.3 89502 chr7 100457612 100457612 G A rs148126705 SLC12A9 Synonymous SNV S218S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.83 89503 chr7 100491685 100491685 C T rs17234982 ACHE Nonsynonymous SNV G57R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.42 89504 chr3 50005017 50005017 T C rs17598830 RBM6 Synonymous SNV L53L 0 0.003 0.017 0 0 1 0 5 0 0 0 0 0.026 89505 chr5 163234 163234 C T rs3810869 PLEKHG4B Nonsynonymous SNV A1016V 0.004 0 0 0 5 0 0 0 0 0 0 0 10.84 89506 chr19 814683 814683 C T rs141768432 PLPPR3 Synonymous SNV P222P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.89 89507 chr3 51429270 51429270 G A rs781929069 RBM15B Nonsynonymous SNV S147N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 89508 chr3 51909240 51909240 G C rs1857800 IQCF5-AS1 0 0 0.061 0 0 0 0 18 0 0 9 0 1.383 89509 chr6 160968954 160968954 T C rs961064032 LPA Nonsynonymous SNV N1724S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.158 89510 chr3 52097060 52097060 C T rs4687608 LINC00696 0 0 0.088 0 0 0 0 26 0 0 1 0 4.408 89511 chr6 161507618 161507618 C T rs145569434 MAP3K4 Synonymous SNV D825D 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 15.06 89512 chr6 168376967 168376967 T G rs764473665 HGC6.3 Nonsynonymous SNV Q122H 0.014 0.013 0 4 16 5 0.01 0 2 0 0 0 0.011 89513 chr6 168376968 168376968 T G rs200262961 HGC6.3 Nonsynonymous SNV Q122P 0.013 0.01 0 4 15 4 0.01 0 2 0 0 0 3.319 89514 chr6 51890573 51890573 G T rs140791735 PKHD1 Synonymous SNV G1345G 0.01 0.003 0.003 4 12 1 0.01 1 0 0 0 0 Benign/Likely benign 0.034 89515 chr6 168376977 168376977 G A rs113501624 HGC6.3 Nonsynonymous SNV S119F 0.01 0.013 0.003 3 12 5 0.008 1 1 0 0 0 4.08 89516 chr6 168376980 168376980 G A HGC6.3 Nonsynonymous SNV A118V 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 4.423 89517 chr6 168376987 168376987 G A rs71573433 HGC6.3 Nonsynonymous SNV P116S 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 3.57 89518 chr5 159492022 159492022 A C rs377412563 TTC1 Nonsynonymous SNV T277P 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 89519 chr6 165703538 165703538 A G C6orf118 Nonsynonymous SNV I380T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.028 89520 chr17 41139295 41139295 G A rs34886583 RUNDC1 Nonsynonymous SNV R174H 0.006 0.003 0.014 5 7 1 0.013 4 0 0 0 0 23.3 89521 chr5 171765655 171765655 C T rs147491999 SH3PXD2B Synonymous SNV T818T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.03 89522 chr5 173035291 173035291 G A rs74729929 BOD1 Nonsynonymous SNV R123C 0.015 0.01 0 8 18 4 0.021 0 0 0 0 0 5.028 89523 chr5 173035295 173035295 - CTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGGAGGGGGTG BOD1 Q121delinsHTPSRARRPGPSSSIPGHFLR 0.001 0 0 0 1 0 0 0 0 0 0 0 89524 chr6 167754563 167754563 C A rs373611883 TTLL2 Nonsynonymous SNV A392D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 89525 chr6 168366529 168366529 G C rs377617992 AFDN Synonymous SNV A1663A 0.005 0.003 0.01 4 6 1 0.01 3 0 0 0 0 7.666 89526 chr6 170038695 170038695 C T rs200752658 WDR27 Synonymous SNV A412A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 89527 chr6 24437435 24437435 C T rs3181759 GPLD1 Synonymous SNV A701A 0.009 0.013 0.031 2 10 5 0.005 9 0 0 0 0 12.89 89528 chr6 36990120 36990120 C T rs377585981 FGD2 Nonsynonymous SNV R478C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 89529 chr3 59908125 59908125 C T rs776462261 FHIT Nonsynonymous SNV V43I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.53 89530 chr6 24564540 24564540 A G rs2817191 KIAA0319 Nonsynonymous SNV V185A 0.005 0.005 0.017 2 6 2 0.005 5 0 0 0 0 0.003 89531 chr6 24564544 24564544 T C rs2744550 KIAA0319 Nonsynonymous SNV S184G 0.005 0.005 0.017 2 6 2 0.005 5 0 0 0 0 0.009 89532 chr3 64142981 64142981 C T rs139747674 PRICKLE2 Nonsynonymous SNV V153I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 89533 chr6 24576631 24576631 C T rs2744559 KIAA0319 Nonsynonymous SNV G522S 0.005 0.005 0.02 2 6 2 0.005 6 0 0 0 0 15.8 89534 chr3 65367577 65367577 C T rs565704580 MAGI1 Synonymous SNV T892T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.9 89535 chr6 24576785 24576785 T C rs75720688 KIAA0319 Synonymous SNV T470T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 0.935 89536 chr6 24580097 24580097 A G rs114195393 KIAA0319 Nonsynonymous SNV I409T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 26 89537 chr5 172661850 172661850 C G rs72554029 NKX2-5 Synonymous SNV P79P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 4.42 89538 chr3 67659983 67659983 T G rs199925153 SUCLG2 Nonsynonymous SNV Q41P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 28.7 89539 chr5 175995985 175995985 A G rs144430304 CDHR2 Nonsynonymous SNV I97V 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 0.003 89540 chr6 40359828 40359828 A G LRFN2 Nonsynonymous SNV Y742H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.912 89541 chr5 176524380 176524380 G A FGFR4 Synonymous SNV L707L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 4.082 89542 chr6 24145896 24145896 C T rs11544636 NRSN1 Nonsynonymous SNV H104Y 0.015 0.021 0.031 8 18 8 0.021 9 0 0 0 0 19.24 89543 chr6 26056554 26056554 C G H1-2 Nonsynonymous SNV A35P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.46 89544 chr17 46606939 46606939 C T rs751220959 HOXB1 Synonymous SNV P292P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.47 89545 chr17 46628398 46628398 C T rs200899839 HOXB3 Synonymous SNV A198A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 89546 chr19 3532490 3532490 G A rs371550562 FZR1 Nonsynonymous SNV A273T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 89547 chr6 8090470 8090470 A G rs138083016 EEF1E1 Synonymous SNV Y111Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.518 89548 chr17 47302377 47302377 G C rs201377268 PHOSPHO1 Nonsynonymous SNV P37R 0.007 0 0.014 3 8 0 0.008 4 0 0 0 0 18.56 89549 chr6 27839846 27839847 AG - H3C11 L83Afs*23 0.003 0 0 1 4 0 0.003 0 0 0 0 0 89550 chr6 27839850 27839857 CGGTCTTA - H3C11 F79Lfs*25 0.003 0 0 1 4 0 0.003 0 0 0 0 0 89551 chr6 26017447 26017447 - T rs749012967 H1-1 Frameshift insertion P172Tfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 89552 chr5 179193385 179193385 C T rs61748799 MAML1 Synonymous SNV D458D 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Benign 0.089 89553 chr3 9956995 9956995 G A rs781584427 IL17RE Nonsynonymous SNV R387H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.28 89554 chr7 100648048 100648048 G A rs138470062 MUC12 Nonsynonymous SNV S4735N 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 0.289 89555 chr17 48619375 48619375 G C rs746086635 EPN3 Nonsynonymous SNV V586L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 20.5 89556 chr17 49337993 49337993 A G rs117093534 UTP18 Synonymous SNV G16G 0.013 0.013 0.024 1 15 5 0.003 7 0 0 1 0 5.11 89557 chr7 100680346 100680346 A C rs148987719 MUC17 Nonsynonymous SNV E1883D 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 89558 chr6 28056636 28056636 C T rs142555139 ZNF165 Synonymous SNV N282N 0.003 0.013 0.003 5 3 5 0.013 1 0 0 0 1 11.2 89559 chr6 44219827 44219827 C T rs767688306 HSP90AB1 Synonymous SNV D518D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.3 89560 chr7 100682367 100682367 C T rs139836389 MUC17 Nonsynonymous SNV T2557I 0 0.005 0 0 0 2 0 0 0 0 0 0 15.47 89561 chr7 100691316 100691316 C T rs143621027 MUC17 Nonsynonymous SNV T4152I 0 0.005 0 0 0 2 0 0 0 0 0 0 0.007 89562 chr7 100692160 100692160 G C rs146929478 MUC17 Synonymous SNV L4190L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.874 89563 chr7 100860054 100860054 C T rs112321807 PLOD3 Synonymous SNV V41V 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 Benign 14.48 89564 chr19 4508960 4508960 C T rs112037560 PLIN4 Synonymous SNV L1174L 0.014 0.008 0.024 6 16 3 0.015 7 0 0 0 0 10.5 89565 chr19 4511038 4511038 G A rs77772720 PLIN4 Synonymous SNV T978T 0.015 0.008 0.02 6 18 3 0.015 6 0 0 0 0 9.205 89566 chr6 36020553 36020553 C T rs753358147 MAPK14 Nonsynonymous SNV A65V 0.003 0 0 0 4 0 0 0 0 0 0 0 33 89567 chr19 4511181 4511181 C T rs115537722 PLIN4 Nonsynonymous SNV V931I 0.015 0.008 0.024 6 18 3 0.015 7 0 0 0 0 9.616 89568 chr4 10599639 10599639 C T rs201145337 CLNK Nonsynonymous SNV D16N 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 22.7 89569 chr7 106898789 106898789 G A rs749455454 COG5 Nonsynonymous SNV L570F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 89570 chr19 4512553 4512553 G C rs143246362 PLIN4 Synonymous SNV V473V 0.014 0.008 0.02 6 16 3 0.015 6 0 0 1 0 0.226 89571 chr19 4512637 4512637 A G rs57042059 PLIN4 Synonymous SNV N445N 0.011 0.01 0.014 3 13 4 0.008 4 1 0 0 0 0.002 89572 chr19 4512642 4512642 T C rs60931060 PLIN4 Nonsynonymous SNV M444V 0.011 0.008 0.014 3 13 3 0.008 4 1 0 0 0 0.001 89573 chr4 108552883 108552883 G A rs145511221 PAPSS1 Nonsynonymous SNV T547M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 33 89574 chr5 38884151 38884151 A G rs146887040 OSMR Nonsynonymous SNV Y214C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.94 89575 chr19 4512690 4512690 T C rs753486708 PLIN4 Nonsynonymous SNV I428V 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 0.001 89576 chr19 4512691 4512691 - G rs775015714 PLIN4 Frameshift insertion I428Yfs*72 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 89577 chr19 4512692 4512692 - C rs748902708 PLIN4 Frameshift insertion N427Rfs*73 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 89578 chr19 4512694 4512694 - AC rs768283052 PLIN4 Stop gain N427* 0.008 0.008 0.014 2 9 3 0.005 4 0 0 0 0 89579 chr19 4512697 4512700 GGTT - rs773868599 PLIN4 T425Kfs*15 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 89580 chr7 1097274 1097274 C T rs55698772 GPR146 Synonymous SNV G41G 0.012 0.01 0.003 5 14 4 0.013 1 0 0 0 0 Benign 4.828 89581 chr19 4512705 4512705 T C rs775465689 PLIN4 Nonsynonymous SNV N423D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.003 89582 chr5 35068941 35068941 G A PRLR Nonsynonymous SNV A141V 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 26.3 89583 chr4 1107478 1107478 T C rs62296477 LOC105374344 0 0 0.037 0 0 0 0 11 0 0 5 0 5.366 89584 chr7 113519312 113519312 C T rs76910192 PPP1R3A Nonsynonymous SNV G612E 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Benign 1.036 89585 chr6 4892129 4892129 C G rs116726726 CDYL Synonymous SNV T69T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 7.197 89586 chr6 4892567 4892567 C T rs114679587 CDYL Synonymous SNV G83G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 7.89 89587 chr7 113519964 113519964 A C rs62001864 PPP1R3A Nonsynonymous SNV S395A 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Benign 2.426 89588 chr6 35810383 35810383 - A rs754869954 SRPK1 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 89589 chr5 43294948 43294948 T C rs141175419 HMGCS1 Synonymous SNV E265E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.212 89590 chr7 1191962 1191962 G A rs143994065 ZFAND2A Synonymous SNV V151V 0.012 0.008 0.003 5 14 3 0.013 1 0 0 0 0 2.823 89591 chr17 62028967 62028967 G C rs761353512 SCN4A Nonsynonymous SNV D890E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.894 89592 chr6 43483719 43483721 CAT - rs535007221 YIPF3 D65del 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 89593 chr6 37186525 37186525 C G rs143466352 TMEM217 Synonymous SNV L94L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.741 89594 chr6 53778675 53778675 T C rs187209436 LRRC1 Synonymous SNV T338T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 4.371 89595 chr6 44199164 44199164 A G SLC29A1 Nonsynonymous SNV N303S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 89596 chr6 44222596 44222596 G C rs777110019 SLC35B2 Synonymous SNV S249S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.626 89597 chr6 55989091 55989091 C T rs200401514 COL21A1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.7 89598 chr6 44272467 44272467 C A rs756253793 AARS2 Nonsynonymous SNV G556V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 32 89599 chr4 128807881 128807881 A C rs774545143 PLK4 Synonymous SNV A420A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.2 89600 chr6 46657314 46657314 A G rs150300048 TDRD6 Synonymous SNV L483L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.525 89601 chr17 70944008 70944008 C T rs34970573 SLC39A11 Nonsynonymous SNV A105T 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 Likely benign 18.05 89602 chr6 40400529 40400529 G A rs201921958 LRFN2 Synonymous SNV D108D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.45 89603 chr6 47253761 47253761 G T rs753655982 TNFRSF21 Nonsynonymous SNV P223T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.033 89604 chr7 131191366 131191366 G A rs113941139 PODXL Synonymous SNV T375T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.09 89605 chr6 41545807 41545807 C T rs72858984 FOXP4 Synonymous SNV A96A 0.018 0.008 0.014 6 21 3 0.015 4 0 0 0 0 19.03 89606 chr19 7682224 7682224 G A rs144062687 CAMSAP3 Synonymous SNV P1075P 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 11.89 89607 chr19 7743869 7743869 C T rs113286748 MCEMP1 Stop gain Q183X 0.011 0.005 0.007 4 13 2 0.01 2 0 0 0 0 Benign 24.1 89608 chr5 60999961 60999961 A G rs74835233 C5orf64 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 1.643 89609 chr17 72353273 72353273 G A rs9899528 BTBD17 Synonymous SNV A320A 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 8.747 89610 chr4 144435370 144435370 C G SMARCA5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.926 89611 chr5 63890545 63890545 C A rs768520530 RGS7BP Nonsynonymous SNV P25T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.82 89612 chr6 42236526 42236526 T C rs770383433 TRERF1 Nonsynonymous SNV Q268R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 89613 chr5 63986609 63986609 C A rs144658157 SHISAL2B Nonsynonymous SNV F53L 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 24.2 89614 chr19 7987391 7987391 C T SNAPC2 Synonymous SNV C249C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.268 89615 chr6 49426975 49426975 T C rs115923556 MMUT Nonsynonymous SNV I69V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.212 89616 chr4 146601385 146601385 A G rs750721719 C4orf51 Synonymous SNV Q10Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.357 89617 chr7 135242703 135242703 C T rs73158973 NUP205 Nonsynonymous SNV P4L 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 18.57 89618 chr4 148860995 148860995 G A rs201010197 ARHGAP10 Synonymous SNV L416L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.99 89619 chr19 8326613 8326613 - CCC rs770943490 CERS4 P298_F299insP 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 89620 chr4 15060093 15060093 T C CPEB2 Nonsynonymous SNV I802T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 89621 chr17 72959999 72959999 C T HID1 Nonsynonymous SNV E75K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.1 89622 chr5 64956557 64956557 C A rs34925196 TRAPPC13 Nonsynonymous SNV Q81K 0.009 0.005 0.003 5 11 2 0.013 1 0 0 0 0 22.3 89623 chr5 65349915 65349915 A G rs1054272739 ERBIN Synonymous SNV P923P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.91 89624 chr6 52317597 52317597 T C rs137852776 EFHC1 Nonsynonymous SNV F229L 0.008 0.003 0.024 3 9 1 0.008 7 0 0 1 0 Conflicting interpretations of pathogenicity 17.88 89625 chr6 53159233 53159233 G A rs9474477 ELOVL5 Synonymous SNV L39L 0.005 0 0 0 6 0 0 0 0 0 0 0 4.766 89626 chr7 139726085 139726085 G A rs148853236 PARP12 Synonymous SNV H564H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.082 89627 chr4 155411 155411 A T rs142742436 ZNF718 Synonymous SNV S312S 0.009 0.005 0.017 7 11 2 0.018 5 0 0 0 0 0.54 89628 chr6 46656746 46656746 G A TDRD6 Nonsynonymous SNV G294E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 89629 chr6 56506815 56506815 G A rs377406538 DST Nonsynonymous SNV R116C 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Uncertain significance 34 89630 chr7 100676421 100676421 T C rs761529042 MUC17 Nonsynonymous SNV M575T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.773 89631 chr7 142574256 142574256 C T rs150421102 TRPV6 Nonsynonymous SNV D263N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 89632 chr7 142574544 142574544 G A rs138110961 TRPV6 Synonymous SNV I218I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.3 89633 chr5 75902045 75902045 C T IQGAP2 Nonsynonymous SNV S375F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 89634 chr5 74017533 74017533 T C rs182739367 GFM2 Nonsynonymous SNV M716V 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 16.21 89635 chr5 74491956 74491956 T C rs59620469 ANKRD31 Nonsynonymous SNV T173A 0.009 0.018 0.027 3 10 7 0.008 8 0 0 0 0 0.005 89636 chr19 9026247 9026247 T C rs78941910 MUC16 Nonsynonymous SNV M12247V 0.01 0.003 0.003 4 12 1 0.01 1 0 0 0 0 0.021 89637 chr5 77335015 77335015 G T rs139344924 AP3B1 Nonsynonymous SNV F838L 0.009 0.005 0.014 0 10 2 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 89638 chr5 74998606 74998606 G A rs79392300 POC5 Nonsynonymous SNV P88S 0.004 0.01 0.01 2 5 4 0.005 3 0 0 0 0 0.001 89639 chr19 9025652 9025652 G A rs200539549 MUC16 Nonsynonymous SNV P12268S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.995 89640 chr6 97562207 97562207 G T rs74787311 KLHL32 Synonymous SNV V256V 0.033 0.031 0.037 11 39 12 0.028 11 1 1 0 0 5.435 89641 chr7 149498990 149498990 G A rs189214453 SSPO 0.009 0.013 0 5 10 5 0.013 0 0 0 0 0 13.01 89642 chr4 17710586 17710586 C G rs61746992 FAM184B Nonsynonymous SNV D275H 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 27.4 89643 chr17 77808500 77808500 G A rs140935310 CBX4 Nonsynonymous SNV A314V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.343 89644 chr6 56819326 56819326 G C rs150003298 DST Nonsynonymous SNV F20L 0.013 0.026 0.01 9 15 10 0.023 3 0 0 0 0 Benign 23.6 89645 chr6 84881373 84881373 C T rs142624944 CEP162 Nonsynonymous SNV R668Q 0.011 0 0.01 3 13 0 0.008 3 0 0 0 0 18.86 89646 chr5 79950567 79950567 G A rs6151597 MSH3 Synonymous SNV A7A 0.039 0.013 0.007 13 46 5 0.033 2 1 0 0 0 Benign 16.67 89647 chr5 80409407 80409407 T G rs16878472 RASGRF2 Nonsynonymous SNV L713W 0.019 0.005 0.01 12 22 2 0.031 3 0 0 0 0 23.1 89648 chr6 89563347 89563347 C T rs763968675 RNGTT 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 89649 chr17 78327533 78327533 G A rs894418806 RNF213-AS1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.31 89650 chr4 187070808 187070808 A G rs201889401 FAM149A Nonsynonymous SNV T247A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.28 89651 chr7 150878220 150878220 G A rs61735130 ASB10 Nonsynonymous SNV R304C 0.008 0.013 0 6 9 5 0.015 0 0 0 0 0 Benign 34 89652 chr7 150934520 150934520 G A rs139006025 CHPF2 Nonsynonymous SNV V358I 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 89653 chr5 9044500 9044500 C T rs150116452 SEMA5A Synonymous SNV S1030S 0.005 0 0 5 6 0 0.013 0 0 0 0 0 Likely benign 16.64 89654 chr4 187541327 187541327 T C rs780444021 FAT1 Nonsynonymous SNV K2138R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 89655 chr19 10218391 10218391 C T rs140010724 SNORD105 0.01 0.003 0 3 12 1 0.008 0 0 0 0 0 19.39 89656 chr19 10224346 10224348 CGA - rs761813731 P2RY11, PPAN-P2RY11 D21del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 89657 chr19 10250361 10250361 G A rs142903301 DNMT1 Synonymous SNV G1297G 0.017 0.008 0 6 20 3 0.015 0 0 0 0 0 Benign 16.74 89658 chr19 10404612 10404612 G A rs36045754 ICAM5 Synonymous SNV T568T 0.016 0.005 0.007 7 19 2 0.018 2 0 0 0 0 9.305 89659 chr4 187629836 187629836 G T rs371822287 FAT1 Synonymous SNV P382P 0.008 0 0.01 1 9 0 0.003 3 0 0 0 0 Benign 0.012 89660 chr7 129664304 129664304 C T rs117785128 ZC3HC1 Synonymous SNV S273S 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 12.94 89661 chr5 98109776 98109776 T C RGMB Star tloss M1? 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.6 89662 chr4 22341278 22341278 C T rs10938890 LOC100505912 0 0 0.082 0 0 0 0 24 0 0 5 0 0.096 89663 chr6 105781370 105781370 C T rs374448880 PREP Synonymous SNV K278K 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 16.93 89664 chr6 84896193 84896193 T C CEP162 Nonsynonymous SNV N344D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.349 89665 chr6 85473766 85473766 T A rs751349202 TBX18 Nonsynonymous SNV E45V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 89666 chr6 106960531 106960531 G T rs567558913 CRYBG1 Synonymous SNV T105T 0.008 0 0.003 5 9 0 0.013 1 0 0 0 0 8.183 89667 chr19 11532495 11532495 G A rs773024256 CCDC151 Synonymous SNV D420D 0.005 0 0 1 6 0 0.003 0 0 0 0 0 5.623 89668 chr19 12089389 12089389 T C rs369627452 ZNF763 Nonsynonymous SNV I95T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 89669 chr6 109767929 109767929 C T rs41288556 MICAL1 Synonymous SNV A672A 0.012 0.013 0.017 3 14 5 0.008 5 0 0 0 0 Benign 10.36 89670 chr7 21939017 21939017 G A rs148707462 DNAH11 Synonymous SNV P4371P 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Likely benign 11.39 89671 chr18 3879181 3879181 C T rs61746232 DLGAP1 Synonymous SNV S296S 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Benign 12.26 89672 chr6 90383869 90383869 C T rs114130059 MDN1 Nonsynonymous SNV V4401I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.55 89673 chr6 109768617 109768617 C G MICAL1 Nonsynonymous SNV E585D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.645 89674 chr4 36286015 36286015 A C rs116402730 DTHD1 Nonsynonymous SNV E230A 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 21.7 89675 chr18 6729754 6729754 G A rs570164133 LOC101927168 0.005 0 0.003 1 6 0 0.003 1 1 0 0 0 9.441 89676 chr4 36428048 36428048 G A rs6841938 MIR1255B1 0 0 0.082 0 0 0 0 24 0 0 0 0 1.261 89677 chr7 100550503 100550503 - CCC MUC3A S362_T363insP 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 89678 chr7 100550508 100550510 AGA - MUC3A E364del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 89679 chr7 100550577 100550577 C T rs775932110 MUC3A Synonymous SNV N386N 0.011 0.01 0.051 3 13 4 0.008 15 0 0 0 0 4.676 89680 chr4 37445144 37445144 A G rs142523381 NWD2 Nonsynonymous SNV I512V 0.005 0.016 0.02 2 6 6 0.005 6 0 0 0 0 Benign 14.82 89681 chr7 100550584 100550589 ACCACC - MUC3A T391_T392del 0.009 0.01 0.048 3 11 4 0.008 14 0 0 0 0 89682 chr7 100550601 100550601 C A rs79112841 MUC3A Synonymous SNV I394I 0.009 0.01 0.037 4 11 4 0.01 11 0 0 0 0 4.352 89683 chr7 100550604 100550604 C A rs74878158 MUC3A Synonymous SNV S395S 0.009 0.01 0.034 4 11 4 0.01 10 0 0 0 0 6.765 89684 chr4 37592122 37592122 C T rs200921992 C4orf19 Synonymous SNV L149L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.103 89685 chr7 140301392 140301392 G A DENND2A Nonsynonymous SNV P269L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 27 89686 chr18 7011369 7011369 G A rs372946104 LAMA1 Nonsynonymous SNV A1206V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 89687 chr7 102616424 102616424 T C rs199544749 NFE4 Nonsynonymous SNV M101T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.257 89688 chr7 102667940 102667940 G T rs115245242 FBXL13 Synonymous SNV R95R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.747 89689 chr4 39409105 39409105 T C KLB Nonsynonymous SNV L179P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 89690 chr7 100459451 100459451 C T rs143756205 SLC12A9 Synonymous SNV G400G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 89691 chr6 117083172 117083172 C T rs41306045 FAM162B Nonsynonymous SNV A120T 0.014 0.013 0.007 3 17 5 0.008 2 0 0 0 0 29.2 89692 chr4 42122289 42122289 T C rs144453545 BEND4 Nonsynonymous SNV N390S 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 11.73 89693 chr7 149482585 149482585 C T rs199648588 SSPO 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.74 89694 chr7 31864525 31864525 G A rs564932801 PDE1C Synonymous SNV I454I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 89695 chr6 126342333 126342333 C T TRMT11 Synonymous SNV H191H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.38 89696 chr18 21723177 21723177 C T rs756022680 CABYR Synonymous SNV I33I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.661 89697 chr7 33380537 33380537 T A rs761037803 BBS9 Nonsynonymous SNV D287E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 89698 chr4 47746602 47746602 - A rs764019331 CORIN 0.004 0.013 0.041 7 5 5 0.018 12 0 0 0 0 89699 chr6 123837334 123837334 C A TRDN Stop gain E168X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 37 89700 chr7 127013672 127013672 G C rs180822910 ZNF800 Nonsynonymous SNV A573G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 89701 chr6 13365725 13365725 G A rs775989798 GFOD1 Synonymous SNV G38G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.1 89702 chr6 138750868 138750868 G A NHSL1 Synonymous SNV D1359D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.7 89703 chr6 139202098 139202098 - AAT rs587778239 ECT2L I558_L559insI 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 89704 chr7 128506847 128506847 C T rs146848536 ATP6V1FNB Synonymous SNV F128F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 7.549 89705 chr7 154760669 154760669 - TGCTGC rs575209522 PAXIP1 Q413_H414insQQ 0 0.005 0 3 0 2 0.008 0 0 0 0 0 89706 chr18 34156497 34156497 A G rs61735987 FHOD3 Nonsynonymous SNV I199V 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 7.022 89707 chr6 144416449 144416449 C G SF3B5 Synonymous SNV A62A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.12 89708 chr18 34273358 34273358 C A rs150630527 FHOD3 Synonymous SNV S544S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 6.484 89709 chr7 1037432 1037432 A G rs916773970 C7orf50 Synonymous SNV D138D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.069 89710 chr7 156468510 156468510 T C rs939466387 RNF32 Nonsynonymous SNV C269R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.241 89711 chr6 139233946 139233946 C T rs140387177 REPS1 Nonsynonymous SNV D552N 0.01 0.018 0.003 2 12 7 0.005 1 0 0 0 0 Likely benign 24.2 89712 chr7 107688461 107688461 G C LAMB4 Synonymous SNV P1406P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.222 89713 chr6 144183376 144183376 T C rs56155985 LTV1 Synonymous SNV I174I 0.014 0.021 0.024 11 17 8 0.028 7 0 0 0 0 10.88 89714 chr7 1131378 1131378 C T rs117290655 GPER1 Nonsynonymous SNV S5F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.583 89715 chr6 146755072 146755072 A C rs138759146 GRM1 Nonsynonymous SNV M909L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Uncertain significance 0.293 89716 chr18 47788504 47788504 G A rs202145075 CFAP53 Nonsynonymous SNV A52V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.6 89717 chr6 151152035 151152035 A C rs41289347 PLEKHG1 Synonymous SNV T557T 0.035 0.021 0.02 9 41 8 0.023 6 0 1 0 0 0.002 89718 chr6 148841232 148841232 G A rs111298366 SASH1 Nonsynonymous SNV R232Q 0.016 0.008 0 3 19 3 0.008 0 0 0 0 0 15.27 89719 chr6 151161086 151161086 T C rs17080410 PLEKHG1 Nonsynonymous SNV V1032A 0.053 0.031 0.065 17 62 12 0.044 19 2 1 0 0 0.003 89720 chr18 51807123 51807123 T C rs3218788 POLI Synonymous SNV L174L 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 6.593 89721 chr6 151161116 151161116 G A rs61742396 PLEKHG1 Nonsynonymous SNV G1042E 0.053 0.031 0.065 17 62 12 0.044 19 2 1 0 0 1.899 89722 chr6 151161836 151161836 T C rs17054318 PLEKHG1 Nonsynonymous SNV L1282S 0.052 0.031 0.065 17 61 12 0.044 19 2 1 0 0 0.02 89723 chr7 100680251 100680251 G A rs79565573 MUC17 Nonsynonymous SNV A1852T 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 11.84 89724 chr7 100680270 100680270 C T rs753245932 MUC17 Nonsynonymous SNV A1858V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.597 89725 chr6 151161376 151161376 C T rs1017719233 PLEKHG1 Nonsynonymous SNV R1129W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.8 89726 chr6 152651802 152651802 C T rs144963785 SYNE1 Nonsynonymous SNV R4602Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 89727 chr7 124404308 124404308 C A rs62638683 GPR37 Synonymous SNV T241T 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 5.763 89728 chr7 141722182 141722182 G A rs374915796 MGAM Synonymous SNV R275R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.42 89729 chr6 152738062 152738062 T A rs137889044 SYNE1 Nonsynonymous SNV E1844V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 89730 chr7 105205815 105205815 C A rs35531972 RINT1 Nonsynonymous SNV L319I 0.031 0.049 0.051 12 36 19 0.031 15 0 1 1 0 Benign 24.9 89731 chr6 152534789 152534789 T C rs36044575 SYNE1 Synonymous SNV S7413S 0.014 0.021 0.01 6 17 8 0.015 3 1 0 0 0 Benign/Likely benign 9.669 89732 chr7 128034528 128034528 C T rs754158159 IMPDH1 Nonsynonymous SNV R449H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 89733 chr7 23731175 23731175 G C rs151221998 FAM221A Synonymous SNV S141S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.101 89734 chr6 152779977 152779977 T C rs764909700 SYNE1 Nonsynonymous SNV Y835C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 89735 chr4 79173612 79173612 - C FRAS1 Frameshift insertion Q128Pfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 89736 chr7 107594016 107594016 C T rs141390544 LAMB1 Nonsynonymous SNV R1013Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 14.04 89737 chr7 1097595 1097595 C T rs142752160 GPR146 Synonymous SNV C148C 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 Benign 9.287 89738 chr18 61154277 61154277 C A rs34866511 SERPINB5 Synonymous SNV I89I 0.012 0.016 0.024 7 14 6 0.018 7 0 0 0 0 17.97 89739 chr6 158502348 158502348 T C rs115480282 SYNJ2 Synonymous SNV I688I 0.007 0.016 0 3 8 6 0.008 0 0 0 0 0 0.027 89740 chr6 158505107 158505107 G A rs61743913 SYNJ2 Nonsynonymous SNV G800R 0.007 0.016 0 3 8 6 0.008 0 0 0 0 0 13.08 89741 chr4 80327982 80327982 C T rs151024112 GK2 Nonsynonymous SNV G458E 0.004 0.008 0.017 3 5 3 0.008 5 0 0 0 0 26.1 89742 chr6 159178409 159178409 C A rs111645988 SYTL3 Nonsynonymous SNV A229D 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 31 89743 chr7 117243784 117243784 G C rs151048781 CFTR Nonsynonymous SNV M952I 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.9 89744 chr7 30536849 30536849 A T GGCT Stop gain L97X 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.31 89745 chr6 158957529 158957529 G A rs559446947 TMEM181 Synonymous SNV P17P 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 11.89 89746 chr18 67742698 67742698 T C rs749785030 RTTN Nonsynonymous SNV H573R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.68 89747 chr7 144095405 144095405 T C rs367962183 NOBOX Nonsynonymous SNV I582V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.955 89748 chr7 121652815 121652815 A T rs139963769 PTPRZ1 Nonsynonymous SNV T1239S 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 5.346 89749 chr6 159457131 159457131 G A rs754331104 TAGAP Nonsynonymous SNV H579Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.6 89750 chr4 843707 843707 G A rs375386112 GAK Synonymous SNV R1190R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.214 89751 chr4 8469935 8469935 C T rs151291552 TRMT44 Nonsynonymous SNV R356C 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 27.3 89752 chr6 159672383 159672383 G A FNDC1 Synonymous SNV L1628L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 9.758 89753 chr18 72998059 72998059 A G rs761091881 TSHZ1 Nonsynonymous SNV N233D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 89754 chr7 33397476 33397476 G A rs34218557 BBS9 Nonsynonymous SNV R364Q 0.004 0.01 0 8 5 4 0.021 0 0 0 0 0 Benign 26.4 89755 chr7 33545175 33545175 C T rs116483694 BBS9 Nonsynonymous SNV A582V 0.004 0.01 0 8 5 4 0.021 0 0 0 0 0 Benign/Likely benign 21.7 89756 chr7 136935977 136935977 C A rs61735090 PTN Stop gain E151X 0.012 0.013 0.024 1 14 5 0.003 7 0 0 0 0 23.1 89757 chr6 160230100 160230100 T A PNLDC1 Synonymous SNV S231S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.986 89758 chr6 160445698 160445698 C T rs8191746 IGF2R Nonsynonymous SNV P203L 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 19.79 89759 chr19 35250996 35250996 C T rs149040820 ZNF599 Nonsynonymous SNV R237H 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 12.38 89760 chr6 160468309 160468309 G A rs6413491 IGF2R Nonsynonymous SNV A724T 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 7.336 89761 chr6 160479956 160479956 A G rs773537372 IGF2R Nonsynonymous SNV M973V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.003 89762 chr7 37780301 37780301 G A rs770328102 GPR141 Synonymous SNV T102T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.168 89763 chr6 160493834 160493834 G A rs2230044 IGF2R Synonymous SNV A1536A 0.012 0.018 0.017 5 14 7 0.013 5 0 0 0 0 10.59 89764 chr4 88537294 88537294 - GACAGCAGTGACAGCAGTGAAAGCAGC DSPP S1166_D1167insESSDSSDSS 0 0 0.02 0 0 0 0 6 0 0 3 0 89765 chr4 88537306 88537306 - AGCAGCGACAGCAGTGAC DSPP S1178_N1179insDSSDSS 0 0 0.02 0 0 0 0 6 0 0 3 0 89766 chr4 88537357 88537357 T C rs146317878 DSPP Synonymous SNV S1181S 0 0 0.01 0 0 0 0 3 0 0 1 0 0.29 89767 chr4 88537384 88537384 T C rs201295377 DSPP Synonymous SNV S1190S 0 0 0.078 0 0 0 0 23 0 0 8 0 0.115 89768 chr4 88537405 88537405 T C rs114882264 DSPP Synonymous SNV D1197D 0 0 0.088 0 0 0 0 26 0 0 9 0 0.015 89769 chr7 128315826 128315828 TCC - rs775807768 FAM71F2 L95del 0.001 0 0 0 1 0 0 0 0 0 0 0 89770 chr6 160557643 160557643 C T rs2282143 SLC22A1 Nonsynonymous SNV P341L 0.012 0.018 0.017 5 14 7 0.013 5 0 0 0 0 28 89771 chr7 4002461 4002461 C G rs150361503 SDK1 Synonymous SNV T469T 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 13.95 89772 chr6 160664685 160664685 G A rs8177516 SLC22A2 Nonsynonymous SNV R400C 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 32 89773 chr4 88989089 88989089 A C rs2234917 PKD2 Nonsynonymous SNV M800L 0.024 0.016 0.02 5 28 6 0.013 6 0 0 0 0 Conflicting interpretations of pathogenicity 11.41 89774 chr7 128412618 128412618 C A rs140568559 OPN1SW Synonymous SNV S341S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 18.36 89775 chr6 16328229 16328229 C T rs150050637 ATXN1 Nonsynonymous SNV A105T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.49 89776 chr7 77649048 77649048 C T MAGI2 Nonsynonymous SNV A1304T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 89777 chr4 90833108 90833108 T C rs758194010 MMRN1 Nonsynonymous SNV S253P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 89778 chr7 78131039 78131039 C T rs142493469 MAGI2 Nonsynonymous SNV A274T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 89779 chr7 129842426 129842426 T C rs183716648 TMEM209 Nonsynonymous SNV T93A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 89780 chr19 35842538 35842538 A G FFAR1 Synonymous SNV R28R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.03 89781 chr19 579628 579628 G A rs774867811 BSG Nonsynonymous SNV A66T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 89782 chr7 151684325 151684325 G C rs61729482 GALNTL5 Nonsynonymous SNV G206A 0.018 0.029 0.003 9 21 11 0.023 1 0 0 0 1 Benign 24.3 89783 chr7 151800228 151800228 C T rs6464201 GALNT11 Nonsynonymous SNV P70S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 26.9 89784 chr7 129989852 129989852 C T rs17388190 CPA5 Nonsynonymous SNV P79S 0.01 0.005 0.007 4 12 2 0.01 2 0 0 0 0 25.6 89785 chr6 16327865 16327873 TGCTGCTGC - ATXN1 Q223_Q225del 0.001 0 0 0 1 0 0 0 0 0 0 0 89786 chr6 16327873 16327873 - TGCTGCTGC ATXN1 Q225_H226insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 89787 chr7 151851392 151851392 C T rs56753294 KMT2C Synonymous SNV P4033P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 21.5 89788 chr6 167343204 167343204 C T rs41269593 RNASET2 Nonsynonymous SNV E215K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 15.6 89789 chr7 140710308 140710308 C T rs141271507 MRPS33 Synonymous SNV L42L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.23 89790 chr7 151877889 151877889 G C rs17173370 KMT2C Synonymous SNV V2352V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 2.182 89791 chr7 141422943 141422943 T G rs768726813 WEE2 Nonsynonymous SNV L297W 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.5 89792 chr7 151879584 151879584 T C rs61730538 KMT2C Synonymous SNV Q1787Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 0.038 89793 chr7 151884447 151884447 C T rs61730536 KMT2C Synonymous SNV T1636T 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 Benign 12.86 89794 chr7 1542630 1542630 G A rs765697477 INTS1 Synonymous SNV L86L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.767 89795 chr7 45703896 45703896 C G rs895479225 ADCY1 Nonsynonymous SNV I313M 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 5.711 89796 chr7 131195936 131195936 G A rs146590589 PODXL Synonymous SNV T119T 0.008 0.003 0.003 0 9 1 0 1 1 0 0 0 6.908 89797 chr4 983654 983654 G A rs148832260 SLC26A1 Nonsynonymous SNV S358L 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 26.2 89798 chr4 984938 984938 G A rs139024319 SLC26A1 Nonsynonymous SNV T185M 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 26.2 89799 chr7 141867112 141867112 C T rs752736664 MGAM2 Synonymous SNV I951I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.06 89800 chr4 99407907 99407907 G A rs146933965 TSPAN5 Synonymous SNV N87N 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 10.05 89801 chr7 155556610 155556610 G C RBM33 Nonsynonymous SNV R1028S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.34 89802 chr7 155755797 155755797 G A rs150214165 LOC389602 Nonsynonymous SNV A92T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 11.19 89803 chr4 9987324 9987324 G A rs3733589 SLC2A9 Synonymous SNV I168I 0.048 0.036 0.054 12 56 14 0.031 16 3 0 2 0 Benign 14.08 89804 chr7 89915680 89915680 A G rs200376912 CFAP69 Synonymous SNV L541L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.668 89805 chr7 89933290 89933290 A G CFAP69 Synonymous SNV K686K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.036 89806 chr6 170871157 170871157 A G rs776912164 TBP Synonymous SNV T91T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.037 89807 chr5 1038447 1038449 CAC - rs767037701 NKD2 H447del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 89808 chr7 143080097 143080097 A T rs759976721 ZYX Nonsynonymous SNV Q204H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.221 89809 chr6 18457480 18457480 G C rs147356549 RNF144B Synonymous SNV L142L 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 10.58 89810 chr19 1011977 1011977 C T rs1018242058 TMEM259 Nonsynonymous SNV V286M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 89811 chr7 158449083 158449083 G A rs61745702 NCAPG2 Nonsynonymous SNV R753C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.57 89812 chr7 48318419 48318419 A G rs191015288 ABCA13 Nonsynonymous SNV H2543R 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 10.57 89813 chr7 148718175 148718175 C A rs149592400 PDIA4 Nonsynonymous SNV E51D 0.012 0.016 0.003 5 14 6 0.013 1 0 0 0 0 0.035 89814 chr6 17675498 17675498 G T rs140571428 NUP153 Nonsynonymous SNV P229T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 89815 chr7 158823327 158823327 T C VIPR2 Nonsynonymous SNV T417A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.84 89816 chr7 139311366 139311366 C T rs770918396 HIPK2 Nonsynonymous SNV D534N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 89817 chr7 50607557 50607557 A C rs999988329 DDC-AS1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.281 89818 chr7 149558235 149558235 C G rs182652523 ZNF862 Synonymous SNV L662L 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 0.043 89819 chr7 21789311 21789311 T C DNAH11 Synonymous SNV L2897L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.827 89820 chr7 99227430 99227430 G A rs138966554 ZSCAN25 Synonymous SNV A474A 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 4.933 89821 chr7 2289624 2289624 C T rs143614396 NUDT1 Synonymous SNV P95P 0.006 0.018 0.007 1 7 7 0.003 2 0 0 0 0 11.86 89822 chr19 38782602 38782602 G A rs143567268 SPINT2 Nonsynonymous SNV G182R 0.007 0 0 1 8 0 0.003 0 0 0 0 0 15.83 89823 chr7 150644929 150644929 C T rs916754925 KCNH2 Synonymous SNV P570P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.17 89824 chr6 25509933 25509935 ACA - rs747726278 CARMIL1 N483del 0.001 0 0 0 1 0 0 0 0 0 0 0 89825 chr19 2073407 2073407 C T rs141783611 MOB3A Nonsynonymous SNV R214Q 0.004 0 0 0 5 0 0 0 0 0 0 0 23.3 89826 chr5 122425807 122425807 G C rs747211874 PRDM6 Nonsynonymous SNV G33A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.18 89827 chr19 2251327 2251327 C T rs764049634 AMH Nonsynonymous SNV P352S 0.003 0 0.01 0 3 0 0 3 0 0 0 0 22.5 89828 chr7 150817076 150817076 C T AGAP3 Synonymous SNV A324A 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 17.26 89829 chr7 151057262 151057262 C T NUB1 Synonymous SNV G267G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 89830 chr7 143055983 143055983 G A rs148056886 FAM131B Nonsynonymous SNV R41C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 89831 chr8 103250918 103250918 G A RRM2B Nonsynonymous SNV L45F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 89832 chr8 103335597 103335597 G T rs139050981 UBR5 Nonsynonymous SNV L576I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.04 89833 chr5 1294045 1294045 G A TERT Nonsynonymous SNV T319M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.99 89834 chr7 6452461 6452461 G A rs1133850 DAGLB Nonsynonymous SNV A388V 0.012 0.016 0.017 3 14 6 0.008 5 0 0 0 0 24.3 89835 chr19 39915904 39915904 G A rs31729 PLEKHG2 Nonsynonymous SNV R1200K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.436 89836 chr19 3179517 3179517 C T rs61731111 S1PR4 Nonsynonymous SNV R243C 0.015 0.018 0.007 8 18 7 0.021 2 1 0 0 1 24.3 89837 chr7 143747855 143747855 G A rs201237598 OR2A5 Nonsynonymous SNV D121N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 89838 chr7 6621821 6621821 G T rs140783518 ZDHHC4 Synonymous SNV L103L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.849 89839 chr7 27213496 27213513 GGGGCGGCGGCTGCTGCT - rs781375906 HOXA10 Q138_P143del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 89840 chr7 2749438 2749438 C T rs576714230 AMZ1 Stop gain R256X 0 0.003 0 0 0 1 0 0 0 0 0 0 13.79 89841 chr7 143806981 143806981 G A rs367713543 OR2A2 Synonymous SNV L102L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.091 89842 chr7 27867364 27867364 A G rs557561150 TAX1BP1 Nonsynonymous SNV E591G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22 89843 chr7 70252347 70252347 G A rs750630131 AUTS2 Nonsynonymous SNV A797T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 22.8 89844 chr8 10480305 10480305 C T rs189960401 RP1L1 Nonsynonymous SNV R136H 0.01 0.008 0.003 3 12 3 0.008 1 0 0 0 0 Benign/Likely benign 9.237 89845 chr7 1482042 1482042 C T rs145185736 MICALL2 Synonymous SNV P499P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.777 89846 chr8 105263259 105263259 T C rs1134949 RIMS2 Synonymous SNV Y169Y 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 Benign 0.422 89847 chr5 135276290 135276290 A T rs185043562 FBXL21P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.29 89848 chr5 1363771 1363771 C T rs75699861 LINC01511 0 0 0.054 0 0 0 0 16 0 0 0 0 1.106 89849 chr5 1363825 1363825 T C rs79744444 LINC01511 0 0 0.054 0 0 0 0 16 0 0 0 0 2.154 89850 chr8 109458492 109458493 AG - rs751876197 EMC2 K2Ifs*2 0.002 0.008 0 0 2 3 0 0 0 0 0 0 89851 chr7 148910848 148910848 A G rs114974629 ZNF282 Synonymous SNV P374P 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 1.614 89852 chr19 41073709 41073709 C T rs146837860 SPTBN4 Synonymous SNV P2159P 0.009 0.013 0.024 4 11 5 0.01 7 0 0 1 0 17.04 89853 chr19 41074162 41074162 G A rs118048177 SPTBN4 Nonsynonymous SNV M2310I 0.008 0.01 0.027 1 9 4 0.003 8 0 0 1 0 17.34 89854 chr8 110431439 110431439 A T rs200854141 PKHD1L1 Nonsynonymous SNV Y825F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 89855 chr8 110437338 110437338 G A rs186936990 PKHD1L1 Nonsynonymous SNV E908K 0 0.003 0 0 0 1 0 0 0 0 0 0 21 89856 chr7 30880442 30880442 G A MINDY4 Nonsynonymous SNV D475N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 89857 chr7 149505590 149505590 C A rs367595483 SSPO 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 18.69 89858 chr7 31815285 31815285 C G rs79948907 PDE1C Synonymous SNV T651T 0.009 0.005 0.014 5 10 2 0.013 4 0 0 0 0 Benign 10.66 89859 chr8 113314180 113314180 T A rs779538842 CSMD3 Nonsynonymous SNV E2561V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 89860 chr7 150389829 150389829 A G rs17173567 GIMAP2 Nonsynonymous SNV N152S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 89861 chr7 21788358 21788358 C T rs199574130 DNAH11 Nonsynonymous SNV R2891W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 35 89862 chr8 11629089 11629089 A G NEIL2 Nonsynonymous SNV T45A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 89863 chr7 80292304 80292304 A G rs3211901 CD36 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 23.5 89864 chr7 80292449 80292449 G A rs5956 CD36 Synonymous SNV P36P 0.003 0.018 0.003 3 4 7 0.008 1 0 0 0 0 Uncertain significance 11.55 89865 chr6 40360265 40360265 G A rs200804161 LRFN2 Nonsynonymous SNV P596L 0.005 0 0 4 6 0 0.01 0 0 0 0 0 2.237 89866 chr19 44254828 44254828 C A SMG9 Nonsynonymous SNV E22D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.25 89867 chr8 124238872 124238872 C T rs59113457 C8orf76, ZHX1-C8orf76 Synonymous SNV R272R 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 13.03 89868 chr7 37951735 37951735 G A rs61761894 SFRP4 Synonymous SNV Y259Y 0.016 0.016 0.01 6 19 6 0.015 3 0 0 0 0 4.065 89869 chr5 140581684 140581684 T A rs142465110 PCDHB11 Synonymous SNV L779L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 2.177 89870 chr5 140614038 140614038 G A rs2907309 PCDHB18P 0 0 0.014 0 0 0 0 4 0 0 1 0 11.11 89871 chr7 87704999 87704999 G A rs111428945 ADAM22 Nonsynonymous SNV E127K 0.016 0.036 0.017 7 19 14 0.018 5 0 0 0 0 22.7 89872 chr19 5131148 5131148 C T rs113584294 KDM4B Synonymous SNV F459F 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign 15.27 89873 chr5 140619791 140619791 A G rs2910335 PCDHB19P 0 0 0.02 0 0 0 0 6 0 0 1 0 1.053 89874 chr7 151877128 151877128 T C rs138464665 KMT2C Synonymous SNV S2411S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 5.516 89875 chr19 5456401 5456401 G A rs145022317 ZNRF4 Nonsynonymous SNV R300H 0.006 0 0 0 7 0 0 0 0 0 0 0 12.76 89876 chr7 27211548 27211548 C T rs34957925 HOXA10 Synonymous SNV R401R 0.023 0.018 0.037 11 27 7 0.028 11 1 0 1 0 11.53 89877 chr5 14582058 14582058 C G rs116803888 OTULINL Nonsynonymous SNV P19A 0.005 0.01 0.017 2 6 4 0.005 5 1 2 2 0 0.001 89878 chr7 44189393 44189393 G A rs144723656 GCK Synonymous SNV Y215Y 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 Benign/Likely benign 4.25 89879 chr8 133044211 133044211 T A OC90 Synonymous SNV T316T 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 3.405 89880 chr5 147040101 147040101 - AAAC rs139209631 JAKMIP2-AS1 0 0 0.184 0 0 0 0 54 0 0 6 0 89881 chr5 147041185 147041185 G A rs9325048 JAKMIP2-AS1 0 0 0.184 0 0 0 0 54 0 0 5 0 3.469 89882 chr7 94038649 94038649 G A rs368468 COL1A2 Nonsynonymous SNV V270I 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign/Likely benign 15.34 89883 chr7 32590951 32590951 G C rs146342571 AVL9 Synonymous SNV L126L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.951 89884 chr7 47876567 47876567 G A rs17131842 PKD1L1 Synonymous SNV C1965C 0.028 0.026 0.014 6 33 10 0.015 4 1 0 0 0 7.465 89885 chr6 41029294 41029294 C A rs41273362 APOBEC2 Nonsynonymous SNV T120N 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 27.5 89886 chr5 149751746 149751763 AGTGAGGAGGGATCTGAA - rs528897827 TCOF1 G276_E281del 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 89887 chr8 101054113 101054113 T C rs148424420 RGS22 Nonsynonymous SNV I438V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.001 89888 chr8 101277003 101277003 C T rs138968684 RNF19A Nonsynonymous SNV R401H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 89889 chr6 41553201 41553201 G A rs148022939 FOXP4 Synonymous SNV Q152Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.795 89890 chr7 4830318 4830318 C T rs200617745 AP5Z1 Synonymous SNV G495G 0.009 0.018 0 0 10 7 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.74 89891 chr6 4937879 4937879 C T rs147295406 CDYL Synonymous SNV S108S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 15.41 89892 chr19 7734275 7734275 G C rs761696775 RETN Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.765 89893 chr7 4150312 4150312 C T rs6980076 SDK1 Synonymous SNV D1114D 0.003 0 0.014 2 3 0 0.005 4 0 0 0 0 Benign 12.29 89894 chr8 103846946 103846946 G A rs145786248 AZIN1 Nonsynonymous SNV S205F 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 22.4 89895 chr6 51613199 51613199 G A rs139306706 PKHD1 Nonsynonymous SNV A3072V 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.521 89896 chr7 2578181 2578181 C T rs61627394 BRAT1 Nonsynonymous SNV G488D 0.006 0.01 0.014 8 7 4 0.021 4 0 0 0 0 0.01 89897 chr7 42962993 42962993 T C rs28503255 PSMA2 Synonymous SNV P129P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 8.974 89898 chr7 2578371 2578371 G A rs56727079 BRAT1 Nonsynonymous SNV L425F 0.006 0.01 0.014 8 7 4 0.021 4 0 0 0 0 Benign 24.1 89899 chr6 43006639 43006639 G T rs765006933 CUL7 Nonsynonymous SNV Q1545K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 89900 chr7 2582907 2582907 C T rs77213198 BRAT1 Nonsynonymous SNV R110Q 0.005 0.008 0.01 7 6 3 0.018 3 0 0 0 0 Benign 0.074 89901 chr7 50514228 50514228 T G FIGNL1 Nonsynonymous SNV E253A 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 0.007 89902 chr5 154320820 154320820 C T rs115393757 MRPL22 Synonymous SNV A24A 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 11.43 89903 chr19 47984058 47984058 G C rs145347349 KPTN Synonymous SNV P130P 0.009 0.005 0.017 2 10 2 0.005 5 0 0 0 0 Benign 11.77 89904 chr7 27213170 27213170 G A HOXA10 Synonymous SNV L252L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 89905 chr7 27282866 27282866 C T rs183219836 EVX1 Nonsynonymous SNV L73F 0.006 0.01 0.007 5 7 4 0.013 2 0 0 0 0 10.02 89906 chr7 44839429 44839429 C T rs8177828 PPIA Synonymous SNV N106N 0.026 0.016 0.01 4 30 6 0.01 3 2 0 0 0 10.95 89907 chr8 144651760 144651760 G C rs748897703 MROH6 Nonsynonymous SNV P443A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.57 89908 chr6 44244124 44244126 GAG - TMEM151B E523del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 89909 chr5 159680418 159680418 G A rs183560299 CCNJL Synonymous SNV S377S 0 0.003 0.01 2 0 1 0.005 3 0 0 0 0 10.75 89910 chr19 8615552 8615552 C T rs201962739 MYO1F Synonymous SNV P262P 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 13.26 89911 chr6 65149207 65149207 C G EYS Nonsynonymous SNV E1895Q 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 23.5 89912 chr7 47342713 47342713 G C rs188962919 TNS3 Nonsynonymous SNV L1098V 0.018 0.013 0.003 5 21 5 0.013 1 1 0 0 0 Benign 27.5 89913 chr6 46620240 46620240 C T rs61661828 CYP39A1 Nonsynonymous SNV R27H 0.009 0.016 0.003 3 10 6 0.008 1 0 0 0 0 16.23 89914 chr7 47408732 47408732 G A rs117019375 TNS3 Nonsynonymous SNV S504L 0.006 0.018 0.01 3 7 7 0.008 3 0 1 0 0 11.96 89915 chr8 144808926 144808926 C T rs116851527 FAM83H Nonsynonymous SNV G902E 0.055 0.034 0.041 19 64 13 0.049 12 1 0 0 1 9.873 89916 chr6 46719818 46719818 C T rs181218771 ANKRD66 Nonsynonymous SNV R100W 0.005 0 0 2 6 0 0.005 0 1 0 0 0 28.3 89917 chr5 168111021 168111021 G A rs145897065 SLIT3 Synonymous SNV H1219H 0.005 0.013 0.007 0 6 5 0 2 0 0 0 0 12.12 89918 chr6 46977602 46977602 G A ADGRF1 Synonymous SNV S523S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.808 89919 chr8 121292257 121292257 G A rs114236859 COL14A1 Nonsynonymous SNV V1189I 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 Benign 25 89920 chr8 121824075 121824075 - ACCGCC rs776504824 SNTB1 A4_A5insVA 0.016 0.01 0.014 2 19 4 0.005 4 2 0 0 0 89921 chr7 4827887 4827887 A G rs201687417 AP5Z1 Synonymous SNV Q363Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.335 89922 chr7 4827893 4827893 G A rs182411153 AP5Z1 Synonymous SNV L365L 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.628 89923 chr7 4830797 4830808 CAGCTCCACGCA - rs139155501 AP5Z1 S581_S584del 0.003 0 0 0 4 0 0 0 0 0 0 0 89924 chr7 4830822 4830822 G A rs183580097 AP5Z1 Nonsynonymous SNV A588T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 0.016 89925 chr7 4830879 4830879 G A rs147369435 AP5Z1 Nonsynonymous SNV V607M 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 29.5 89926 chr7 33644505 33644505 C A rs768072201 BBS9 Nonsynonymous SNV D693E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.918 89927 chr19 9000512 9000512 C T MUC16 Nonsynonymous SNV R13491Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.03 89928 chr7 6548663 6548663 C T rs374793563 GRID2IP Nonsynonymous SNV V685M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 89929 chr5 172382133 172382134 TT - rs766730351 LOC100268168 0 0 0.017 0 0 0 0 5 0 0 0 0 89930 chr19 49657710 49657710 - CAT rs555002410 HRC D261_V262insD 0.024 0.034 0.031 16 28 13 0.041 9 1 0 0 0 89931 chr6 49754003 49754014 TTCCAACCTGAG - rs765154147 PGK2 A296_K300delinsE 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 89932 chr5 176733158 176733158 T C rs142286307 PRELID1 Synonymous SNV Y164Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.106 89933 chr8 131140180 131140180 G A rs75375911 ASAP1 Synonymous SNV G458G 0.015 0.01 0.014 4 18 4 0.01 4 0 0 0 0 9.85 89934 chr7 75182802 75182802 C T rs117129747 HIP1 Nonsynonymous SNV D749N 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 15.51 89935 chr5 177422830 177422830 C T rs915021481 PROP1 Synonymous SNV T35T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 89936 chr19 50386286 50386286 C T TBC1D17 Synonymous SNV S295S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 89937 chr6 84618744 84618744 A G CYB5R4 Nonsynonymous SNV N116S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 27 89938 chr5 177689216 177689216 A G rs2973744 COL23A1 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.6 89939 chr7 56147354 56147354 C T rs191799871 SUMF2 Synonymous SNV F270F 0.009 0.01 0 4 11 4 0.01 0 0 0 0 0 12.13 89940 chr7 76054395 76054395 C T rs199647928 ZP3 Synonymous SNV S38S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 11.34 89941 chr7 5751401 5751401 G A rs372395928 RNF216 Synonymous SNV H684H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 89942 chr6 88136324 88136324 C T rs34673243 CFAP206 Synonymous SNV T307T 0.018 0.01 0.014 11 21 4 0.028 4 0 0 0 1 10.84 89943 chr6 88173900 88173900 C T rs146571078 CFAP206 Nonsynonymous SNV R601C 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 27.5 89944 chr6 88853707 88853707 C T rs149238893 CNR1 Synonymous SNV S429S 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 3.879 89945 chr6 57017038 57017038 G A rs774523296 ZNF451 Synonymous SNV K876K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 89946 chr7 8198226 8198226 A C rs7798010 ICA1 Synonymous SNV V212V 0.009 0.016 0.034 2 10 6 0.005 10 0 0 1 0 2.18 89947 chr7 6456319 6456319 G C rs1055430 DAGLB Nonsynonymous SNV L327V 0.035 0.023 0.034 9 41 9 0.023 10 0 0 1 0 24 89948 chr8 139736901 139736901 C G rs150483253 COL22A1 Nonsynonymous SNV G735A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.4 89949 chr6 70944285 70944285 C T rs2072650 COL9A1 Synonymous SNV P514P 0.013 0.013 0.017 4 15 5 0.01 5 0 0 0 0 Benign 15.2 89950 chr7 73008233 73008233 G A rs66489924 MLXIPL Nonsynonymous SNV R841W 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Likely benign 28.7 89951 chr7 45726197 45726197 C G rs148089389 ADCY1 Synonymous SNV L793L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.34 89952 chr6 70981786 70981786 A G rs607156 COL9A1 Synonymous SNV R114R 0.015 0.013 0.017 5 18 5 0.013 5 0 0 0 0 Benign 8.178 89953 chr19 9868686 9868686 T A rs79195449 ZNF846 Nonsynonymous SNV H227L 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 27.9 89954 chr7 47384364 47384364 T C rs369259069 TNS3 Nonsynonymous SNV K880R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.989 89955 chr7 47874798 47874798 C G PKD1L1 Nonsynonymous SNV G1996A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 89956 chr7 47879182 47879182 G A rs201652599 PKD1L1 Synonymous SNV I1877I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 89957 chr7 47879260 47879260 G A PKD1L1 Synonymous SNV S1851S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.274 89958 chr5 2749621 2749621 T C rs142318376 IRX2 Nonsynonymous SNV K177R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 89959 chr5 34823339 34823339 A C rs34757436 RAI14 Synonymous SNV A435A 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.008 89960 chr7 75932207 75932207 C T rs61751217 HSPB1 Nonsynonymous SNV P60S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign/Likely benign 4.975 89961 chr8 2000409 2000409 G A rs35985218 MYOM2 Nonsynonymous SNV E81K 0.014 0.018 0.034 7 16 7 0.018 10 0 0 0 0 12.62 89962 chr19 52447624 52447624 C T rs33998555 ZNF613 Nonsynonymous SNV S163F 0.02 0.01 0.017 4 23 4 0.01 5 0 0 0 0 0.345 89963 chr19 52468278 52468278 G A rs4988336 ZNF350 Synonymous SNV S476S 0.02 0.016 0.02 4 23 6 0.01 6 0 0 0 0 9.252 89964 chr7 50514833 50514833 G T rs61735234 FIGNL1 Synonymous SNV S51S 0.011 0.013 0.007 3 13 5 0.008 2 0 1 0 0 1.086 89965 chr7 80088151 80088151 T C rs770521031 GNAT3 Nonsynonymous SNV N301D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.31 89966 chr19 52619349 52619349 A G rs115318826 ZNF616 Synonymous SNV D356D 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 3.114 89967 chr8 144812633 144812633 C T rs118023699 FAM83H Synonymous SNV S40S 0.023 0.034 0.024 12 27 13 0.031 7 1 1 1 0 9.232 89968 chr5 39331859 39331859 A G rs76184752 C9 Synonymous SNV N178N 0.006 0.005 0.007 7 7 2 0.018 2 0 0 0 0 Benign 3.226 89969 chr7 87035609 87035609 G A rs121918442 ABCB4 Nonsynonymous SNV P1114S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.3 89970 chr8 22864492 22864492 T C rs146491810 RHOBTB2 Nonsynonymous SNV V252A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 89971 chr19 52888070 52888070 - TTGGGAGGCCGAGGCGGGTGGATCATGAG rs755155273 ZNF880 Frameshift insertion C413Ffs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 89972 chr7 540090 540090 T C rs146348704 PDGFA Synonymous SNV K209K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.361 89973 chr5 41155088 41155088 T C rs41271067 C6 Nonsynonymous SNV D696G 0.003 0.01 0.01 1 3 4 0.003 3 0 0 0 0 Benign 21.6 89974 chr7 87795229 87795229 A G rs770538398 ADAM22 Nonsynonymous SNV D719G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 89975 chr8 23004486 23004486 G A rs149074636 TNFRSF10D Nonsynonymous SNV T157M 0 0.005 0 0 0 2 0 0 0 0 0 0 11.25 89976 chr5 43018651 43018651 G A rs4092293 LOC648987 0 0 0.034 0 0 0 0 10 0 0 5 0 10.66 89977 chr19 12692033 12692033 C A rs145261429 ZNF490 Nonsynonymous SNV A286S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.3 89978 chr19 12878649 12878649 C T rs764869703 HOOK2 Synonymous SNV P428P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 89979 chr6 90660232 90660232 G A rs201225316 BACH2 Synonymous SNV D531D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.666 89980 chr7 91682040 91682040 T G rs151021935 AKAP9 Nonsynonymous SNV V1790G 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.11 89981 chr5 54410065 54410065 G A rs141310624 CDC20B Nonsynonymous SNV S472F 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 11.02 89982 chr8 26636882 26636882 C T rs61760538 ADRA1A Nonsynonymous SNV A317T 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 0.335 89983 chr7 100017293 100017293 - T ZCWPW1 Frameshift insertion R81Kfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 89984 chr7 100084522 100084522 C T rs774033119 NYAP1 Synonymous SNV I49I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 89985 chr19 53612490 53612490 T C rs150851211 ZNF415 Nonsynonymous SNV K40E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.5 89986 chr5 55202007 55202007 T C rs140334318 IL31RA Synonymous SNV A362A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.029 89987 chr5 55206398 55206398 G A rs113369650 IL31RA Nonsynonymous SNV E495K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.64 89988 chr8 10467653 10467653 C T rs73201156 RP1L1 Nonsynonymous SNV A1319T 0.009 0.005 0 0 11 2 0 0 0 0 0 0 Benign 7.54 89989 chr7 92762258 92762258 A G rs149908158 SAMD9L Synonymous SNV C1009C 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 0.003 89990 chr19 15289934 15289934 T C rs141418355 NOTCH3 Nonsynonymous SNV N1207S 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 25.8 89991 chr19 15565055 15565055 T C rs61742032 RASAL3 Synonymous SNV P728P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.48 89992 chr8 28304767 28304767 G T rs7016831 FBXO16 Nonsynonymous SNV T243N 0.056 0.07 0.054 19 66 27 0.049 16 1 1 1 0 14.42 89993 chr19 15586618 15586618 C T rs149627417 PGLYRP2 Nonsynonymous SNV R288Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.913 89994 chr7 96747039 96747039 C T rs753447011 SDHAF3 Nonsynonymous SNV P2S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.61 89995 chr8 113353785 113353785 G A rs141765660 CSMD3 Synonymous SNV F1991F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.708 89996 chr19 16006323 16006323 G A rs8110714 CYP4F2 Synonymous SNV N112N 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 8.08 89997 chr19 16006380 16006380 T G rs8100960 CYP4F2 Synonymous SNV G93G 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 0.193 89998 chr8 145737062 145737062 A G RECQL4 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 89999 chr8 30694432 30694432 G A rs145972852 TEX15 Nonsynonymous SNV S3123F 0.009 0.005 0 3 11 2 0.008 0 1 0 0 0 Benign 13.98 90000 chr5 68692375 68692375 - A rs34097088 RAD17 0.02 0.003 0.214 9 24 1 0.023 63 4 0 8 2 90001 chr7 995003 995003 G C rs79805216 ADAP1 Nonsynonymous SNV P14R 0.017 0.013 0.007 3 20 5 0.008 2 1 0 0 0 0.287 90002 chr8 145741199 145741199 A G rs754788578 RECQL4 Nonsynonymous SNV C403R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 22.9 90003 chr19 16275655 16275655 C G rs6512087 CIB3 Nonsynonymous SNV G90A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.97 90004 chr8 119122496 119122496 G A EXT1 Synonymous SNV L264L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.152 90005 chr19 16687870 16687870 G A rs61734286 MED26 Synonymous SNV D257D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.025 90006 chr19 16860041 16860041 C A rs369850508 NWD1 Nonsynonymous SNV H196Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 90007 chr8 103564006 103564006 G C rs140507903 ODF1 Nonsynonymous SNV K17N 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 25.8 90008 chr19 16976328 16976328 C T rs80348819 SIN3B Synonymous SNV D87D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 90009 chr8 121279103 121279103 C A COL14A1 Synonymous SNV T1018T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 90010 chr7 100682706 100682706 C G rs777035213 MUC17 Nonsynonymous SNV T2670S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.212 90011 chr7 82582258 82582258 T G rs10261848 PCLO Nonsynonymous SNV T2671P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 90012 chr7 82583280 82583280 C T rs17148149 PCLO Nonsynonymous SNV R2330Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 90013 chr7 82583388 82583388 A G rs10487647 PCLO Nonsynonymous SNV L2294P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.884 90014 chr8 41166487 41166487 G A SFRP1 Synonymous SNV D64D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.621 90015 chr7 82595324 82595324 C T rs9969358 PCLO Synonymous SNV Q1260Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.589 90016 chr7 82595742 82595742 T C rs28680905 PCLO Nonsynonymous SNV D1121G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 90017 chr7 82785096 82785096 G A rs61744360 PCLO Synonymous SNV D287D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.674 90018 chr7 84629105 84629105 A G SEMA3D Nonsynonymous SNV M662T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.879 90019 chr7 102985064 102985064 C G DNAJC2 Synonymous SNV L2L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.45 90020 chr7 103151436 103151436 T C rs3808039 RELN Synonymous SNV L2712L 0.038 0.026 0.041 11 45 10 0.028 12 2 0 0 0 Benign 8.187 90021 chr5 79024747 79024747 C A rs189499447 CMYA5 Nonsynonymous SNV D53E 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Likely benign 24.6 90022 chr7 103179595 103179595 A G rs362746 RELN Synonymous SNV V2370V 0.009 0.003 0.003 4 11 1 0.01 1 0 0 0 0 Benign 3.394 90023 chr5 79027096 79027096 C T rs62363673 CMYA5 Synonymous SNV D836D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.16 90024 chr19 55752703 55752703 C T rs764846257 PPP6R1 Synonymous SNV R355R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.43 90025 chr19 17688814 17688814 T G rs2115492 COLGALT1 Synonymous SNV P394P 0.003 0.01 0.003 5 4 4 0.013 1 0 0 0 0 1.035 90026 chr8 6338242 6338242 A G MCPH1 Nonsynonymous SNV N661D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.71 90027 chr7 113519727 113519727 C T PPP1R3A Nonsynonymous SNV A474T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.86 90028 chr7 91643610 91643610 G A rs139965373 AKAP9 Nonsynonymous SNV A1194T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 90029 chr19 17837955 17837955 T C MAP1S Nonsynonymous SNV C562R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 90030 chr5 89312487 89312487 G A rs75102645 MIR3660 0 0 0.034 0 0 0 0 10 0 0 0 0 9.479 90031 chr7 11486939 11486939 G A rs1432 THSD7A Synonymous SNV D906D 0.018 0.013 0.017 8 21 5 0.021 5 0 0 0 0 6.867 90032 chr8 66539622 66539622 G A rs146432746 ARMC1 Synonymous SNV S4S 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 10.34 90033 chr8 66701147 66701147 G A rs61736485 PDE7A Synonymous SNV A10A 0.01 0.018 0.014 8 12 7 0.021 4 0 0 0 0 16.29 90034 chr19 18084855 18084855 G A rs555956505 KCNN1 Nonsynonymous SNV R53Q 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 16.36 90035 chr8 68107640 68107640 C T rs200161440 CSPP1 Nonsynonymous SNV P815S 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 Benign/Likely benign 24.1 90036 chr8 120855885 120855885 T C rs770960908 DSCC1 Nonsynonymous SNV N227S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 90037 chr7 121942315 121942315 G A rs142377395 FEZF1 Synonymous SNV T388T 0.007 0 0.007 4 8 0 0.01 2 0 0 0 0 Benign 7.205 90038 chr8 139895350 139895350 G A rs111396685 COL22A1 Synonymous SNV G22G 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 7.022 90039 chr8 23159673 23159673 A G rs763310837 LOXL2 Nonsynonymous SNV I667T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.82 90040 chr5 95072668 95072668 G A rs139206452 RHOBTB3 Nonsynonymous SNV V102I 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 24.5 90041 chr7 12683930 12683930 C T rs369378047 SCIN Synonymous SNV G336G 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 15.28 90042 chr7 101265461 101265461 G A rs140607004 MYL10 Synonymous SNV N123N 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 4.034 90043 chr8 100286428 100286428 G A rs141694201 VPS13B Nonsynonymous SNV V840M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24 90044 chr8 27255295 27255295 C T rs150796343 PTK2B Nonsynonymous SNV T65M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 90045 chr8 101153904 101153904 C T rs371397081 FBXO43 Nonsynonymous SNV S193N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.244 90046 chr7 104753553 104753553 C T rs145540034 KMT2E Nonsynonymous SNV P1784S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 24.8 90047 chr6 106967036 106967036 T G rs149999427 CRYBG1 Nonsynonymous SNV N243K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 25.4 90048 chr7 106964956 106964956 G A rs143773937 COG5 Nonsynonymous SNV P377L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 90049 chr6 106969182 106969182 A G rs138198128 CRYBG1 Nonsynonymous SNV M959V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.001 90050 chr6 107390134 107390134 G A rs141037385 BEND3 Nonsynonymous SNV A754V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 90051 chr8 10396265 10396265 C G rs148061575 PRSS55 Nonsynonymous SNV P341A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 90052 chr8 13356807 13356807 C T rs62637614 DLC1 Synonymous SNV L258L 0.041 0.052 0.024 24 48 20 0.062 7 3 0 0 1 3.264 90053 chr8 33247055 33247055 G A rs760156413 FUT10 Nonsynonymous SNV P213L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 90054 chr8 144810346 144810346 C A rs144418186 FAM83H Nonsynonymous SNV V429L 0.03 0.021 0.024 8 35 8 0.021 7 0 0 0 1 4.514 90055 chr6 111693837 111693837 T C rs769909319 REV3L Synonymous SNV P1907P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.448 90056 chr19 33167742 33167742 C T rs752518597 RGS9BP Synonymous SNV A191A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 90057 chr19 33414392 33414392 T C rs17599843 CEP89 Synonymous SNV E407E 0.014 0.026 0.003 8 16 10 0.021 1 0 0 0 0 Benign 0.979 90058 chr8 95686666 95686666 T A ESRP1 Nonsynonymous SNV M528K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 28.4 90059 chr8 105440271 105440271 G C rs117104587 DPYS Synonymous SNV T343T 0.008 0.005 0.02 2 9 2 0.005 6 0 0 1 0 Benign 6.79 90060 chr8 139209766 139209766 C T rs144998083 FAM135B Synonymous SNV T272T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.18 90061 chr8 38250109 38250109 T C rs949369805 LETM2 Nonsynonymous SNV C33R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.95 90062 chr8 38681511 38681511 T C rs200608116 TACC1 Synonymous SNV T55T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.74 90063 chr8 99101536 99101536 A G rs372604246 ERICH5 Synonymous SNV Q97Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.284 90064 chr7 138946385 138946385 C G rs190180614 UBN2 Synonymous SNV T431T 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 Benign 7.493 90065 chr19 58379962 58379965 AAAA - rs532436017 UBE2CP5 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 90066 chr19 35449877 35449877 G A rs770641530 ZNF792 Synonymous SNV A294A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.093 90067 chr8 54793633 54793633 G A rs928210720 RGS20 Nonsynonymous SNV D20N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.13 90068 chr8 55537560 55537560 C T rs77775126 RP1 Nonsynonymous SNV T373I 0.02 0.023 0.031 11 24 9 0.028 9 0 0 0 0 Benign/Likely benign 6.974 90069 chr19 35716021 35716021 C T rs750190930 FAM187B Nonsynonymous SNV G273S 0.002 0 0 0 2 0 0 0 0 0 0 0 32 90070 chr8 57025762 57025762 G T rs55969078 MOS Synonymous SNV A260A 0.028 0.034 0.034 10 33 13 0.026 10 0 0 0 0 9.228 90071 chr8 61768705 61768705 G C rs185940313 CHD7 Nonsynonymous SNV G2370R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.5 90072 chr6 12162145 12162145 G C rs768555369 HIVEP1 Nonsynonymous SNV A2321P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.699 90073 chr19 59074708 59074708 C T MZF1 Synonymous SNV R312R 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 9.541 90074 chr8 67894309 67894309 A G rs185284063 PPP1R42 Synonymous SNV N176N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.705 90075 chr8 68956824 68956824 C T rs370009693 PREX2 Synonymous SNV T314T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.04 90076 chr8 68965438 68965438 T C rs201030823 PREX2 Synonymous SNV H350H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 4.916 90077 chr7 127992331 127992331 G A PRRT4 Stop gain R427X 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 35 90078 chr8 145171045 145171045 G C rs113419824 WDR97 Nonsynonymous SNV R1573P 0.031 0.042 0.024 11 36 16 0.028 7 1 0 0 0 26.5 90079 chr8 71041119 71041119 C G NCOA2 Nonsynonymous SNV A1072P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.86 90080 chr8 75156799 75156799 C G rs16938828 JPH1 Nonsynonymous SNV D624H 0.012 0.008 0.027 4 14 3 0.01 8 0 0 0 0 21.6 90081 chr7 130418344 130418344 C G rs35770036 KLF14 Nonsynonymous SNV A173P 0.014 0.013 0.01 6 17 5 0.015 3 1 0 0 0 8.814 90082 chr7 130418506 130418506 G A rs76509441 KLF14 Nonsynonymous SNV P119S 0.01 0.013 0.007 6 12 5 0.015 2 1 0 0 0 0.032 90083 chr20 1592173 1592173 C T rs757863751 SIRPB1 Nonsynonymous SNV R88Q 0.003 0 0 0 4 0 0 0 0 0 0 0 24 90084 chr8 125565513 125565513 G C MTSS1 Stop gain S598X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 90085 chr7 149480651 149480651 C T SSPO 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.59 90086 chr6 133076997 133076997 C G rs35799086 VNN2 Synonymous SNV V174V 0 0 0.01 0 0 0 0 3 0 0 0 0 7.95 90087 chr7 149559249 149559249 C T rs377012412 ZNF862 Synonymous SNV A1000A 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 10.55 90088 chr8 12878982 12878982 T C rs3739308 TRMT9B Nonsynonymous SNV I139T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.004 90089 chr6 137323046 137323046 C T rs145789822 IL20RA Synonymous SNV A326A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 90090 chr8 1728678 1728678 A T rs139003032 CLN8 Nonsynonymous SNV E269V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.4 90091 chr9 115652605 115652605 G A rs142789300 SLC46A2 Synonymous SNV S119S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 1 8.48 90092 chr19 38190686 38190686 A G rs35714505 ZNF607 Nonsynonymous SNV C115R 0.008 0.008 0.007 6 9 3 0.015 2 0 0 0 0 22.2 90093 chr8 145065748 145065748 C G rs372991002 GRINA Synonymous SNV V119V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.913 90094 chr20 2375132 2375132 G A rs149394698 TGM6 Synonymous SNV S14S 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 Benign 3.599 90095 chr6 146975309 146975309 A G rs568474034 ADGB Synonymous SNV L123L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.113 90096 chr6 147038089 147038089 G T rs61748896 ADGB Nonsynonymous SNV E604D 0.005 0.003 0.01 1 6 1 0.003 3 0 0 1 0 0.003 90097 chr6 147109544 147109544 C T rs373348227 ADGB Synonymous SNV G1445G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 90098 chr6 147124323 147124323 C T rs111430449 KATNBL1P6 0 0 0.007 0 0 0 0 2 0 0 0 0 12.54 90099 chr6 147684541 147684541 A G rs34181841 STXBP5 Synonymous SNV P836P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.97 90100 chr19 38384574 38384574 G C rs187535289 WDR87 Nonsynonymous SNV S590C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.461 90101 chr9 117266891 117266891 G T rs146655362 WHRN Nonsynonymous SNV A64D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.405 90102 chr7 140221845 140221845 G A rs377365858 DENND2A Synonymous SNV F907F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.01 90103 chr8 142228362 142228362 G A rs145312490 SLC45A4 Synonymous SNV Y408Y 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 2.16 90104 chr19 39100594 39100594 G A rs2287734 MAP4K1 Synonymous SNV P294P 0.007 0.013 0.014 2 8 5 0.005 4 0 0 0 0 7.755 90105 chr9 123739135 123739135 T G rs148342393 C5 Nonsynonymous SNV D1242A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.73 90106 chr9 124083579 124083579 G A rs140042418 GSN Nonsynonymous SNV V460M 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 24.3 90107 chr9 107331727 107331727 C T rs78431564 OR13C8 Synonymous SNV S93S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 4.129 90108 chr9 107579633 107579633 T C rs142877738 ABCA1 Nonsynonymous SNV E1172G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.88 90109 chr6 158322995 158322995 G A rs61748681 SNX9 Nonsynonymous SNV D180N 0.006 0.003 0.017 3 7 1 0.008 5 1 0 0 0 Benign 21 90110 chr7 21469674 21469674 G A rs376902384 SP4 Synonymous SNV G280G 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 1.49 90111 chr19 40095319 40095319 G A LGALS13 0.001 0 0 0 1 0 0 0 0 0 0 0 7.691 90112 chr8 24811077 24811077 C T rs57153321 NEFL Nonsynonymous SNV D468N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 17.03 90113 chr8 25182903 25182903 T C rs34864060 DOCK5 Synonymous SNV D581D 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 2.403 90114 chr8 17731583 17731583 T G rs376838318 FGL1 Nonsynonymous SNV Q149H 0.006 0 0 1 7 0 0.003 0 0 0 0 0 10.93 90115 chr8 25317966 25317966 C T rs145990893 CDCA2 Nonsynonymous SNV P28L 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 23.7 90116 chr20 13869131 13869131 T C rs141957868 SEL1L2 Nonsynonymous SNV I193V 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 16.24 90117 chr19 40580955 40580955 C T rs199973278 ZNF780A Nonsynonymous SNV R465Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 90118 chr19 40711898 40711898 - AAA MAP3K10 E423_Q424insK 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 90119 chr9 125562784 125562784 G A rs115002018 OR1K1 Nonsynonymous SNV R128Q 0.001 0.005 0.007 5 1 2 0.013 2 0 0 0 0 22.8 90120 chr19 41086318 41086318 G A rs777768093 SHKBP1 Synonymous SNV T163T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 90121 chr8 27645482 27645482 G A rs144288263 ESCO2 Nonsynonymous SNV R365K 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 Benign/Likely benign 15.46 90122 chr6 161582053 161582053 - GTGGGAGTGA rs113134548 AGPAT4-IT1 0 0 0.095 0 0 0 0 28 0 0 2 0 90123 chr6 16327770 16327770 C A rs144962740 ATXN1 Nonsynonymous SNV G258C 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 24.2 90124 chr19 41863821 41863821 G A rs34088631 B9D2 Synonymous SNV F65F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 10.33 90125 chr9 127651449 127651449 G A rs34090990 GOLGA1 Synonymous SNV A578A 0.005 0.01 0 0 6 4 0 0 0 0 0 0 Benign 9.648 90126 chr9 127684074 127684074 T C rs35237091 GOLGA1 Nonsynonymous SNV N220S 0.005 0.01 0 0 6 4 0 0 0 0 0 0 0.027 90127 chr8 29963350 29963350 A G rs143499704 LEPROTL1 Nonsynonymous SNV N123S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.82 90128 chr8 145003702 145003702 G A rs149932255 PLEC Synonymous SNV S973S 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 Benign 2.023 90129 chr9 127975721 127975721 C G rs34991596 RABEPK Nonsynonymous SNV S95C 0.004 0.01 0 0 5 4 0 0 0 0 0 0 25.9 90130 chr9 127982837 127982837 G A rs78598675 RABEPK Synonymous SNV T77T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.64 90131 chr9 116930243 116930243 C T rs146589272 COL27A1 Synonymous SNV V136V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 14.99 90132 chr7 2954962 2954962 G A rs61731201 CARD11 Synonymous SNV N916N 0.011 0.016 0.027 4 13 6 0.01 8 0 0 0 0 Benign 11.83 90133 chr6 167754088 167754088 G A rs776662347 TTLL2 Nonsynonymous SNV D234N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.435 90134 chr7 30951867 30951867 A G rs143467679 AQP1 Nonsynonymous SNV I115V 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 0.041 90135 chr8 37704416 37704416 C T rs572768547 BRF2 Synonymous SNV V164V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.38 90136 chr7 31592792 31592792 C T rs376118062 ITPRID1 Nonsynonymous SNV P52S 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 5.387 90137 chr6 170564130 170564130 G A rs775705521 LOC154449 0 0 0.003 0 0 0 0 1 0 0 0 0 6.879 90138 chr9 13125327 13125327 T C rs372859606 MPDZ Synonymous SNV P1532P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.521 90139 chr8 39495084 39495084 T C rs771884090 ADAM18 Nonsynonymous SNV I206T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.12 90140 chr8 145737131 145737131 C G rs61755066 RECQL4 Nonsynonymous SNV Q1145H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.442 90141 chr8 42024712 42024712 T C rs371494067 AP3M2 Synonymous SNV H278H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.342 90142 chr9 120474721 120474721 T C rs5030710 TLR4 Synonymous SNV S105S 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 0.159 90143 chr8 42128942 42128942 C T rs12545246 IKBKB Synonymous SNV F18F 0.009 0.018 0 2 10 7 0.005 0 0 0 0 0 11.19 90144 chr7 36459796 36459796 A G rs369971629 ANLN Nonsynonymous SNV R593G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 3.628 90145 chr9 132402913 132402913 C A ASB6 Nonsynonymous SNV G68C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 90146 chr8 6302971 6302971 C T rs41313954 MCPH1 Synonymous SNV G528G 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 13.44 90147 chr6 2623533 2623533 G C rs6901966 LINC01600 0 0 0.102 0 0 0 0 30 0 0 9 0 1.799 90148 chr20 34116640 34116640 C T rs372916916 C20orf173 Synonymous SNV S126S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 9.859 90149 chr20 34843605 34843605 G A rs141340897 AAR2 Nonsynonymous SNV A365T 0.016 0.021 0.014 8 19 8 0.021 4 0 0 0 0 Likely benign 16.5 90150 chr6 27833477 27833477 G T rs138346783 HIST1H2AL Synonymous SNV V115V 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 5.935 90151 chr19 45567648 45567648 C G rs140157080 CLASRP Nonsynonymous SNV S328C 0.019 0.018 0.003 4 22 7 0.01 1 0 0 0 0 22.1 90152 chr6 2990258 2990259 AG - rs201626951 LINC01011 0 0 0.01 0 0 0 0 3 0 0 0 0 90153 chr8 69017584 69017584 G T rs35559159 PREX2 Nonsynonymous SNV R976M 0.009 0.013 0.014 4 11 5 0.01 4 0 0 0 0 3.481 90154 chr7 17378759 17378759 G C rs138430398 AHR Nonsynonymous SNV G437A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 90155 chr8 2092748 2092748 G A MYOM2 Nonsynonymous SNV G1414D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 90156 chr6 33555574 33555574 G A LINC00336 0 0 0.003 0 0 0 0 1 0 0 0 0 4.83 90157 chr7 45614686 45614686 C G ADCY1 Nonsynonymous SNV L182V 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 12.99 90158 chr9 135147195 135147195 T C rs79233884 SETX Synonymous SNV G2367G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.525 90159 chr7 21584693 21584693 G T rs72655969 DNAH11 Nonsynonymous SNV D141Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign/Likely benign 23.1 90160 chr8 3889547 3889547 C T CSMD1 Nonsynonymous SNV G164R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 34 90161 chr7 21640728 21640728 G A rs754921505 DNAH11 Nonsynonymous SNV S1119N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.3 90162 chr8 77617920 77617920 A C rs972420098 ZFHX4 Nonsynonymous SNV T533P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 90163 chr9 136029520 136029520 C T rs41297225 GBGT1 Nonsynonymous SNV R146Q 0 0.008 0.007 1 0 3 0.003 2 0 0 0 0 25.6 90164 chr9 136198908 136198908 G A rs781835433 SURF6 Nonsynonymous SNV R295C 0 0.005 0 0 0 2 0 0 0 0 0 0 27.9 90165 chr9 130829273 130829273 G A rs148045414 NAIF1 Synonymous SNV N36N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.597 90166 chr8 77896391 77896391 C T rs9298285 PEX2 Synonymous SNV A8A 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Benign 8 90167 chr8 42039484 42039484 G A rs114878147 PLAT Nonsynonymous SNV T198M 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 90168 chr8 23056902 23056902 G A rs149391935 TNFRSF10A Synonymous SNV N297N 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign 6.011 90169 chr6 35854500 35854500 C T rs202247590 SRPK1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 90170 chr7 48315091 48315091 G C rs372364026 ABCA13 Nonsynonymous SNV C1943S 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 24 90171 chr6 36641546 36641546 C A rs12199346 PANDAR 0 0 0.116 0 0 0 0 34 0 0 9 0 3.148 90172 chr7 48318614 48318614 T G rs190991016 ABCA13 Nonsynonymous SNV I2608R 0.012 0.013 0.007 4 14 5 0.01 2 0 0 0 0 7.654 90173 chr6 36642872 36642872 T C rs114529556 PANDAR 0 0 0.003 0 0 0 0 1 0 0 0 0 5.196 90174 chr8 89198806 89198806 G A rs371332118 MMP16 Synonymous SNV C101C 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 12.9 90175 chr6 36842534 36842534 G T rs147328340 PPIL1 Synonymous SNV P5P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.98 90176 chr7 4950843 4950843 G A MMD2 Nonsynonymous SNV H134Y 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 22.8 90177 chr9 133755543 133755543 C T rs145352772 ABL1 Synonymous SNV D504D 0 0.005 0 0 0 2 0 0 0 0 0 0 14.23 90178 chr7 288350 288350 C T rs377615599 FAM20C Synonymous SNV D342D 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Benign 11.81 90179 chr8 68346339 68346339 T C rs138313759 CPA6 Synonymous SNV A325A 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign/Likely benign 2.586 90180 chr6 41738640 41738640 A T FRS3 Nonsynonymous SNV V399D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 90181 chr9 139360890 139360890 C G SEC16A Nonsynonymous SNV W1318C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27 90182 chr9 100616695 100616706 GCCGCAGCCGCC - rs762571620 FOXE1 A176_A179del 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 90183 chr20 50407024 50407024 C T rs757271801 SALL4 Synonymous SNV T666T 0.006 0.016 0 4 7 6 0.01 0 0 0 0 0 8.629 90184 chr7 30795448 30795448 G A rs6970605 INMT Nonsynonymous SNV R257H 0.011 0.016 0 3 13 6 0.008 0 0 0 0 0 25.1 90185 chr9 101800955 101800955 G A rs139652646 COL15A1 Synonymous SNV L805L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.44 90186 chr8 30704120 30704120 G A rs117788795 TEX15 Nonsynonymous SNV A1188V 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Likely benign 12.73 90187 chr6 43227411 43227411 C T rs367608830 TTBK1 Nonsynonymous SNV T464M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 90188 chr19 49636601 49636601 G A PPFIA3 Synonymous SNV L378L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.945 90189 chr6 43565494 43565494 C G rs750908181 POLH Synonymous SNV T60T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.537 90190 chr6 43970503 43970503 - GCGGCG rs778896183 C6orf223 0.003 0 0.024 1 4 0 0.003 7 2 0 0 0 90191 chr9 135553693 135553693 G C rs138509726 GTF3C4 Synonymous SNV P229P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.623 90192 chr9 108123570 108123570 C T rs141353650 SLC44A1 Nonsynonymous SNV R287W 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 34 90193 chr9 136337164 136337164 C G rs142001028 SLC2A6 Synonymous SNV G439G 0.007 0.018 0 1 8 7 0.003 0 0 0 0 0 2.587 90194 chr9 136340625 136340625 C T rs147854160 SLC2A6 Nonsynonymous SNV R224Q 0.007 0.018 0 1 8 7 0.003 0 0 0 0 0 14.49 90195 chr20 58476841 58476841 G T rs13039338 SYCP2 Nonsynonymous SNV T353K 0.019 0.018 0.007 5 22 7 0.013 2 0 0 0 0 19.83 90196 chr20 58545182 58545182 A G rs371260056 CDH26 Nonsynonymous SNV I58V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.001 90197 chr8 39873113 39873113 C T rs768546107 IDO2 Nonsynonymous SNV R419C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.54 90198 chr19 50029370 50029370 C T rs140352484 FCGRT Synonymous SNV T364T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 90199 chr19 50046383 50046383 G A rs143600694 RCN3 Synonymous SNV A300A 0.004 0.013 0.01 1 5 5 0.003 3 0 0 0 0 10.29 90200 chr19 50149813 50149813 G T rs45513592 SCAF1 Nonsynonymous SNV A98S 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Benign 13.25 90201 chr8 42233289 42233289 G A rs115963393 DKK4 Synonymous SNV R57R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 5.503 90202 chr19 50311837 50311837 C - FUZ D282Ifs*125 0.001 0 0 0 1 0 0 0 0 0 0 0 90203 chr19 50376237 50376237 C G rs149367630 AKT1S1 Nonsynonymous SNV D106H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.38 90204 chr19 50864365 50864365 G A rs766421553 NAPSA Synonymous SNV F167F 0.003 0 0 0 3 0 0 0 0 0 0 0 9.216 90205 chr9 139115866 139115866 G A rs145856540 QSOX2 Synonymous SNV L191L 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 1.549 90206 chr9 21008096 21008096 A G rs376490278 HACD4 Synonymous SNV Y180Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.389 90207 chr20 61162233 61162233 G A rs111509987 MIR1-1HG Nonsynonymous SNV A16T 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 17.09 90208 chr19 51205907 51205907 T C SHANK1 Nonsynonymous SNV T522A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.38 90209 chr20 61637927 61637927 G A BHLHE23 Nonsynonymous SNV A67V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.335 90210 chr7 84751070 84751070 C T SEMA3D Synonymous SNV K46K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.73 90211 chr9 104238917 104238917 A G PGAP4 Nonsynonymous SNV F153S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.794 90212 chr9 106894294 106894294 A G rs201268937 SMC2 Nonsynonymous SNV N999S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 90213 chr7 889592 889592 G A rs139112134 SUN1 Nonsynonymous SNV A42T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 4.908 90214 chr9 33265118 33265118 G A CHMP5 Synonymous SNV P14P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.37 90215 chr9 33351731 33351731 G A rs748822455 NFX1 Synonymous SNV P867P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.27 90216 chr6 63990476 63990476 A G rs375983689 LGSN Nonsynonymous SNV M327T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 90217 chr6 64422367 64422367 A T rs538720054 PHF3 Nonsynonymous SNV N1540I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 90218 chr9 33953457 33953457 G A UBAP2 Synonymous SNV A241A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.197 90219 chr9 117846490 117846490 G A rs774066191 TNC Nonsynonymous SNV T710M 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 34 90220 chr9 139992294 139992294 T G rs186504463 MAN1B1 Nonsynonymous SNV V212G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.84 90221 chr6 71289222 71289222 G A rs201573757 SDHAF4 Nonsynonymous SNV R57H 0 0 0.007 0 0 0 0 2 0 0 0 0 33 90222 chr9 35650208 35650208 C T rs3138080 SIT1 Synonymous SNV Q110Q 0.007 0.016 0.007 2 8 6 0.005 2 0 0 0 0 7.407 90223 chr19 52132325 52132325 A T rs2305372 SIGLEC5 Synonymous SNV A235A 0.015 0.01 0.007 0 18 4 0 2 1 0 0 0 0.294 90224 chr9 35906601 35906601 - CA HRCT1 Frameshift insertion H107Tfs*52 0.02 0.023 0 4 23 9 0.01 0 2 4 0 0 90225 chr9 140167323 140167323 G A rs148005191 NELFB Synonymous SNV A610A 0.007 0.003 0.017 2 8 1 0.005 5 1 0 0 0 11.06 90226 chr9 113086282 113086282 C A rs76104654 TXNDC8 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.185 90227 chr8 82670375 82670375 A G CHMP4C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 90228 chr7 99700542 99700542 C T rs754979922 AP4M1 Nonsynonymous SNV R111C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.5 90229 chr9 15744642 15744642 T A rs79919960 CCDC171 Synonymous SNV A815A 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Benign 6.308 90230 chr9 16436324 16436324 G T rs114596065 BNC2 Nonsynonymous SNV P581H 0.003 0.016 0.003 3 4 6 0.008 1 0 0 0 0 Benign 5.29 90231 chr8 101718959 101718959 C T rs750623722 PABPC1 Nonsynonymous SNV V508I 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 90232 chr9 17791297 17791297 G A rs147322804 SH3GL2 Synonymous SNV Q231Q 0 0.01 0.003 1 0 4 0.003 1 0 0 0 0 10.54 90233 chr9 18639300 18639300 G A rs776755 ADAMTSL1 Nonsynonymous SNV S242N 0.026 0.016 0.024 7 30 6 0.018 7 0 0 0 0 16.8 90234 chr7 63982242 63982242 T C rs77628705 ZNF680 Nonsynonymous SNV D297G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.21 90235 chr6 87964634 87964634 C T rs376610075 ZNF292 Synonymous SNV R429R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.007 90236 chr9 116130542 116130542 C T rs376265115 BSPRY Synonymous SNV T192T 0.006 0 0 3 7 0 0.008 0 0 0 0 0 14.49 90237 chr8 98828352 98828352 G T rs141075645 LAPTM4B Nonsynonymous SNV V118F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 90238 chr9 116356389 116356389 C T rs57845277 RGS3 Nonsynonymous SNV R64W 0.003 0 0 0 4 0 0 0 0 0 0 0 5.345 90239 chr9 19126124 19126124 G C rs149124591 PLIN2 Nonsynonymous SNV L72V 0.007 0.018 0.01 7 8 7 0.018 3 0 0 0 0 25.5 90240 chr9 127119009 127119009 G T rs137977915 LOC100129034 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 3.805 90241 chr9 19372119 19372119 C T rs200453509 DENND4C Nonsynonymous SNV P1893L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 25 90242 chr9 21077832 21077832 A G IFNB1 Synonymous SNV L13L 0.006 0.016 0 1 7 6 0.003 0 0 0 0 0 1.592 90243 chr7 6661703 6661703 C T rs555355114 ZNF853 Synonymous SNV L346L 0.015 0.008 0.003 9 18 3 0.023 1 0 0 0 0 10.84 90244 chr9 26917136 26917136 G A rs140970730 PLAA Nonsynonymous SNV S482L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 24.2 90245 chr9 101540510 101540510 T C rs148071928 ANKS6 Nonsynonymous SNV N522S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.002 90246 chr21 36042969 36042969 G A rs769335366 CLIC6 Nonsynonymous SNV E428K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 90247 chr9 123628061 123628061 T C PHF19 Nonsynonymous SNV K67R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 90248 chr9 130914563 130914563 G A rs766819234 LCN2 Nonsynonymous SNV D193N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 90249 chr9 131258520 131258520 C T rs74771309 ODF2 Synonymous SNV L787L 0.011 0.018 0.007 6 13 7 0.015 2 0 0 0 0 15.96 90250 chr19 55441889 55441889 T A rs201379032 NLRP7 Nonsynonymous SNV N930Y 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 0.01 90251 chr9 131513506 131513506 G A rs145111285 ZER1 Synonymous SNV I360I 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 15.8 90252 chr9 90502162 90502162 C T rs749828109 SPATA31E1 Synonymous SNV L920L 0 0.008 0 0 0 3 0 0 0 1 0 0 10.9 90253 chr9 93637009 93637009 G A rs377587992 SYK Synonymous SNV A330A 0 0.008 0 0 0 3 0 0 0 1 0 0 9.682 90254 chr9 131708504 131708504 T C rs138453255 DOLK Nonsynonymous SNV Y360C 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 23 90255 chr8 121522208 121522208 C A rs755766704 MTBP Nonsynonymous SNV P640T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 90256 chr9 35906583 35906583 - CCACCACCACCACCACCACCACCA HRCT1 H105_P106insHHHHHHHH 0 0.003 0 0 0 1 0 0 0 0 0 0 90257 chr7 81624232 81624232 C G rs148283249 CACNA2D1 Synonymous SNV G562G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 14.09 90258 chrX 100177922 100177922 C T rs748087864 XKRX Nonsynonymous SNV G155D 0 0.005 0 0 0 2 0 0 0 1 0 0 28.9 90259 chrX 100880105 100880105 G C rs138397719 ARMCX3 Nonsynonymous SNV V46L 0.001 0.016 0.007 0 1 6 0 2 0 2 0 0 6.317 90260 chr7 87785235 87785235 T C rs113535772 ADAM22 Synonymous SNV N606N 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Benign 9.255 90261 chr9 133928039 133928039 G A rs116422150 LAMC3 Nonsynonymous SNV G598R 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign/Likely benign 7.094 90262 chrX 103358965 103358965 G A rs782679552 ZCCHC18 Nonsynonymous SNV A55T 0 0.005 0 0 0 2 0 0 0 1 0 0 11.93 90263 chrX 105905324 105905324 A G rs760662819 RADX Synonymous SNV R589R 0 0.005 0 0 0 2 0 0 0 1 0 0 0.048 90264 chr9 114503790 114503793 TCTT - rs767779981 SHOC1 E276Dfs*6 0.003 0.003 0 0 4 1 0 0 0 0 0 0 90265 chr9 127685492 127685492 A G rs371948195 GOLGA1 Nonsynonymous SNV I148T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.679 90266 chr9 72000780 72000780 G A rs139318995 FAM189A2 Nonsynonymous SNV R258H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.947 90267 chr19 56443519 56443519 C T rs12610617 NLRP13 Synonymous SNV P53P 0.012 0.005 0.027 3 14 2 0.008 8 0 0 1 0 8.969 90268 chrX 129149349 129149349 G A rs147051252 BCORL1 Synonymous SNV S867S 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.033 90269 chr9 135277301 135277301 A G rs3739914 TTF1 Nonsynonymous SNV V303A 0.01 0.018 0.003 4 12 7 0.01 1 0 0 0 0 0.005 90270 chr9 135277540 135277540 - T TTF1 Frameshift insertion K224Efs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 90271 chr9 117124785 117124785 G A rs41278657 AKNA Nonsynonymous SNV A487V 0.025 0.029 0.01 7 29 11 0.018 3 0 0 0 0 12.48 90272 chr8 134225216 134225216 C T rs145895971 CCN4 Nonsynonymous SNV P60L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 29.6 90273 chr21 46117392 46117392 G A rs201493209 KRTAP10-12 Synonymous SNV P92P 0.011 0.01 0 0 13 4 0 0 0 0 0 0 9.334 90274 chr7 94049732 94049732 C T rs150670521 COL1A2 Synonymous SNV G721G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.96 90275 chr9 136006424 136006424 G A rs73558484 RALGDS Nonsynonymous SNV S16F 0 0.008 0 0 0 3 0 0 0 0 0 0 5.273 90276 chr8 135533213 135533213 T C rs114589731 ZFAT Synonymous SNV V987V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 3.489 90277 chr9 136208405 136208405 C T rs145653063 MED22 Nonsynonymous SNV A185T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.141 90278 chr7 94293664 94293664 C G PEG10 Nonsynonymous SNV H266D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.354 90279 chr7 100807231 100807231 C T VGF Synonymous SNV Q298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.909 90280 chr21 46875961 46875961 G A rs62000960 COL18A1 Nonsynonymous SNV G173S 0.013 0.016 0.003 2 15 6 0.005 1 0 0 0 0 Uncertain significance 4.372 90281 chr9 117552954 117552954 A C rs187538454 TNFSF15 Synonymous SNV T119T 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 0.003 90282 chr9 117568192 117568192 C T rs201981566 TNFSF15 Nonsynonymous SNV R34H 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 2.872 90283 chr9 131397395 131397395 C T rs75450756 WDR34 Synonymous SNV L319L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.17 90284 chr7 102781988 102781988 T C RPL19P12 0 0 0.156 0 0 0 0 46 0 0 0 0 2.548 90285 chr7 102781989 102781989 T G RPL19P12 0 0 0.177 0 0 0 0 52 0 0 0 0 1.76 90286 chr7 102781991 102781991 T G rs879090245 RPL19P12 0 0 0.187 0 0 0 0 55 0 0 0 0 3.758 90287 chr7 102781996 102781996 C T RPL19P12 0 0 0.204 0 0 0 0 60 0 0 0 0 9.218 90288 chr7 102782002 102782002 T C rs878979290 RPL19P12 0 0 0.204 0 0 0 0 60 0 0 0 0 8.922 90289 chr9 131467782 131467782 C T rs55665019 PKN3 Synonymous SNV H75H 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 11.41 90290 chr9 131475909 131475909 G A rs60978469 PKN3 Synonymous SNV L408L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.61 90291 chr7 98528357 98528357 G A rs782174650 TRRAP Synonymous SNV K1165K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.53 90292 chr9 131482517 131482517 A G rs7874430 PKN3 Synonymous SNV A804A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 90293 chr9 131482720 131482720 C T rs7874787 PKN3 Nonsynonymous SNV R821C 0.003 0 0 0 3 0 0 0 0 0 0 0 15.75 90294 chr9 131483668 131483668 A G rs78428039 ZDHHC12 Nonsynonymous SNV V254A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.266 90295 chr8 142367229 142367229 C T rs372583253 GPR20 Synonymous SNV A265A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.3 90296 chrX 140993990 140993990 C T rs80051600 MAGEC1 Nonsynonymous SNV S267F 0.003 0.005 0.01 0 3 2 0 3 1 1 1 0 11.67 90297 chr9 137620534 137620534 G A rs761079177 COL5A1 Nonsynonymous SNV E269K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.63 90298 chr7 99769286 99769286 C G rs748321977 GPC2 Nonsynonymous SNV E396Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 90299 chr9 131669776 131669776 T C rs16930747 LRRC8A Synonymous SNV A111A 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 0.03 90300 chr7 107749668 107749668 C G rs149874137 LAMB4 Nonsynonymous SNV R117T 0.006 0.013 0.01 5 7 5 0.013 3 0 0 0 0 27.4 90301 chr9 123675895 123675895 A G rs113495277 TRAF1 Nonsynonymous SNV M17T 0.036 0.042 0.034 14 42 16 0.036 10 0 0 0 0 7.042 90302 chr9 138676638 138676638 G A rs373365707 KCNT1 Nonsynonymous SNV R975H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 90303 chr9 139089436 139089436 C G rs201591640 LHX3 Nonsynonymous SNV R299P 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Uncertain significance 24.4 90304 chrX 152226560 152226560 A G PNMA3 Nonsynonymous SNV Y383C 0 0.005 0 0 0 2 0 0 0 1 0 0 0.05 90305 chr19 58439207 58439207 T C rs150200636 ZNF418 Synonymous SNV A29A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.769 90306 chr22 18022449 18022449 G C rs574882726 CECR2 Nonsynonymous SNV V710L 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 3.876 90307 chr8 104342111 104342111 A G FZD6 Synonymous SNV Q285Q 0.006 0 0 1 7 0 0.003 0 0 0 0 0 2.574 90308 chr8 104390349 104390349 G A rs145062750 CTHRC1 Nonsynonymous SNV R142H 0.006 0 0 1 7 0 0.003 0 0 0 0 0 34 90309 chr8 10466743 10466743 C T rs151260617 RP1L1 Nonsynonymous SNV R1622Q 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 7.731 90310 chr9 139370814 139370814 C G rs570399253 SEC16A Synonymous SNV V418V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.421 90311 chr20 126205 126205 G C rs374096018 DEFB126 Nonsynonymous SNV V70L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 90312 chr9 139566486 139566486 C T rs779245785 EGFL7 Nonsynonymous SNV R249C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 90313 chr9 125627639 125627639 A C rs117294809 RC3H2 Synonymous SNV S541S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.018 90314 chr9 139694177 139694177 A T rs199913585 CCDC183 Nonsynonymous SNV T69S 0.01 0.013 0.01 2 12 5 0.005 3 0 0 0 0 12.44 90315 chr8 144895018 144895018 C T rs75171224 SCRIB Synonymous SNV Q252Q 0.008 0.005 0.017 7 9 2 0.018 5 0 0 0 0 9.348 90316 chr8 110523070 110523070 C T rs533299384 PKHD1L1 Synonymous SNV S3820S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 14.97 90317 chr9 126135627 126135627 G C rs148565778 CRB2 Synonymous SNV L939L 0.014 0.01 0.003 4 17 4 0.01 1 0 0 0 0 0.102 90318 chr8 144941198 144941198 T G rs79860671 EPPK1 Nonsynonymous SNV Q2075P 0.008 0.005 0.014 7 9 2 0.018 4 0 0 0 0 9.718 90319 chr8 144944225 144944225 C T rs118079568 EPPK1 Nonsynonymous SNV R1066H 0.009 0.008 0.017 8 11 3 0.021 5 0 0 0 0 24.3 90320 chr9 139701328 139701328 G T rs368845118 CCDC183-AS1 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 8.979 90321 chr9 134390870 134390870 C A rs11243406 POMT1 Nonsynonymous SNV D259E 0.025 0.016 0.034 7 29 6 0.018 10 1 0 0 0 Benign 24 90322 chr8 113841971 113841971 A G rs142880481 CSMD3 Synonymous SNV D471D 0.01 0.005 0.003 6 12 2 0.015 1 0 0 0 0 Benign 8.043 90323 chr20 896658 896658 G A rs140900541 ANGPT4 Nonsynonymous SNV T67I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.296 90324 chr8 113988178 113988178 C A rs113972313 CSMD3 Synonymous SNV T410T 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Benign 17.26 90325 chr8 145107390 145107390 C T rs185836803 OPLAH Nonsynonymous SNV V1089I 0.006 0.005 0.003 8 7 2 0.021 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 90326 chr7 128491307 128491307 T G FLNC Nonsynonymous SNV V1821G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 90327 chr9 990235 990235 C T rs61737966 DMRT3 Nonsynonymous SNV R217C 0.009 0.018 0 6 10 7 0.015 0 0 0 0 0 Likely benign 14.61 90328 chr20 1164424 1164424 C T rs140910098 TMEM74B Nonsynonymous SNV E8K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.052 90329 chr7 128695983 128695983 C A rs13239597 TPI1P2 0 0 0.051 0 0 0 0 15 0 0 1 0 7.526 90330 chr8 120575103 120575103 G A ENPP2 Synonymous SNV S805S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 90331 chrX 37587307 37587307 C T rs782163436 XK Synonymous SNV S309S 0 0.005 0 0 0 2 0 0 0 1 0 0 8.25 90332 chrX 37935844 37935844 G A rs12558731 SYTL5 Synonymous SNV S193S 0 0.005 0 0 0 2 0 0 0 1 0 0 14.23 90333 chr9 135927399 135927399 G A MIR6877 0.003 0 0 0 3 0 0 0 0 0 0 0 4.318 90334 chr9 130287340 130287340 G C NIBAN2 Nonsynonymous SNV P127A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 90335 chrX 104478638 104478638 A G IL1RAPL2 Nonsynonymous SNV M165V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 90336 chr22 24095090 24095090 G A VPREB3 Synonymous SNV C115C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.634 90337 chr9 136279787 136279787 G A rs782156715 REXO4 Nonsynonymous SNV P131L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.68 90338 chrX 110987997 110987999 CCT - rs56717389 ALG13 P945del 0.019 0.008 0 6 22 3 0.015 0 6 0 0 1 90339 chr7 132412658 132412658 C T rs117992511 FLJ40288 0 0 0.048 0 0 0 0 14 0 0 0 0 1.137 90340 chrX 49083406 49083406 C T rs146199637 CACNA1F Synonymous SNV A369A 0.002 0.005 0 2 2 2 0.005 0 0 1 0 0 13.79 90341 chr8 145736819 145736819 G A rs41555416 RECQL4 Nonsynonymous SNV R1208C 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 90342 chrX 114239849 114239849 G A rs375241228 IL13RA2 Nonsynonymous SNV R343C 0.004 0.01 0 0 5 4 0 0 0 0 0 0 11.13 90343 chr9 131085196 131085196 G A rs9697215 COQ4 Nonsynonymous SNV R20Q 0.037 0.036 0.024 7 43 14 0.018 7 0 0 0 0 Benign 13.41 90344 chrX 114426098 114426098 G A RBMXL3 Synonymous SNV Q698Q 0.01 0.008 0 0 12 3 0 0 3 0 0 0 1.294 90345 chrX 54360057 54360057 G C WNK3 Nonsynonymous SNV P17R 0 0.005 0 0 0 2 0 0 0 1 0 0 24.7 90346 chr22 25119210 25119210 A C rs56199175 PIWIL3 Synonymous SNV A757A 0.016 0.003 0.034 5 19 1 0.013 10 0 0 0 0 0.007 90347 chr7 135285707 135285707 G A rs61743018 NUP205 Synonymous SNV V430V 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 12.57 90348 chrX 63410110 63410110 T C rs61730681 AMER1 Synonymous SNV Q1019Q 0.026 0.042 0.044 8 30 16 0.021 13 9 5 5 2 0.002 90349 chrX 63412690 63412690 A C rs34677493 AMER1 Nonsynonymous SNV F159L 0.021 0.029 0.031 8 25 11 0.021 9 7 3 3 2 not provided 0.002 90350 chrX 63445459 63445459 G A rs1414368 ASB12 Synonymous SNV P24P 0.02 0.029 0.031 5 23 11 0.013 9 6 3 3 1 10.2 90351 chrX 117526747 117526747 A G rs150373422 WDR44 Nonsynonymous SNV I88M 0.009 0.013 0 1 11 5 0.003 0 3 1 0 0 0.016 90352 chr8 146278762 146278764 CTT - C8orf33 L162del 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 90353 chrX 67283792 67283792 C A rs199985543 OPHN1 Nonsynonymous SNV A688S 0 0.005 0 0 0 2 0 0 0 1 0 0 Uncertain significance 14.56 90354 chrX 70325912 70325912 G C rs368758032 CXorf65 Nonsynonymous SNV A63G 0 0.005 0 0 0 2 0 0 0 1 0 0 26.4 90355 chr9 131862949 131862949 G A rs148524724 CRAT Synonymous SNV S275S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.01 90356 chr9 131897170 131897170 A G rs142643111 PTPA Nonsynonymous SNV N157S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 90357 chr20 3270801 3270801 C G rs377057414 C20orf194 Synonymous SNV L767L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 90358 chrX 124455909 124455909 C T rs747192018 TEX13C Synonymous SNV S647S 0.037 0.049 0.054 5 43 19 0.013 16 13 6 6 1 2.345 90359 chrX 125685427 125685427 C T rs762351703 DCAF12L1 Nonsynonymous SNV A389T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.071 90360 chr8 131140189 131140189 G A rs376825464 ASAP1 Synonymous SNV C455C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 90361 chr22 26937327 26937327 C A rs4822735 TPST2 Synonymous SNV A90A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.48 90362 chrX 74599009 74599009 A G rs757420624 ZDHHC15 Nonsynonymous SNV L322P 0 0.005 0 0 0 2 0 0 0 1 0 0 Uncertain significance 23.4 90363 chr8 133053345 133053345 C T rs369724134 OC90 Nonsynonymous SNV D135N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24 90364 chr8 17824658 17824658 A C rs35041534 PCM1 Nonsynonymous SNV N1131H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.35 90365 chr9 138903733 138903733 T C rs61742050 NACC2 Nonsynonymous SNV M465V 0.009 0.008 0.017 5 11 3 0.013 5 0 0 0 0 8.765 90366 chrX 130407782 130407782 G A rs770281870 IGSF1 Synonymous SNV P1324P 0 0.005 0 0 0 2 0 0 0 0 0 0 6.45 90367 chr9 19346729 19346729 C T rs72700417 DENND4C Nonsynonymous SNV A1272V 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 15.27 90368 chr9 19434980 19434980 C T rs10964136 ACER2 Nonsynonymous SNV A134V 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 14.19 90369 chr7 140774243 140774243 G A rs139501428 TMEM178B Nonsynonymous SNV A45T 0.009 0.005 0.017 4 11 2 0.01 5 0 0 0 0 17.29 90370 chr20 3783764 3783764 C T rs2228464 CDC25B Synonymous SNV L231L 0.032 0.029 0.054 17 38 11 0.044 16 0 0 0 1 12.81 90371 chr22 30415665 30415665 C G rs149343723 MTMR3 Nonsynonymous SNV P673A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.041 90372 chrX 131212058 131212058 A T rs1041565174 FRMD7 Nonsynonymous SNV Y648N 0 0.005 0 0 0 2 0 0 0 0 0 0 22.5 90373 chr9 21141512 21141512 C T rs34158787 IFNW1 Nonsynonymous SNV G20R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.181 90374 chr20 4162837 4162837 G T rs114897412 SMOX Synonymous SNV S237S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.472 90375 chr7 141802447 141802448 CT - MGAM Y1766Lfs*34 0 0 0.003 0 0 0 0 1 0 0 0 0 90376 chr10 100219468 100219468 C T HPSE2 Nonsynonymous SNV V436M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 90377 chr22 30977353 30977353 T A rs42942 PES1 Nonsynonymous SNV T264S 0.01 0.026 0.034 7 12 10 0.018 10 0 0 0 0 0.09 90378 chr7 142583257 142583257 C T TRPV6 Nonsynonymous SNV G42D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 90379 chr7 142583304 142583304 G A rs189078138 TRPV6 Synonymous SNV V26V 0 0 0.007 0 0 0 0 2 0 0 0 0 16.29 90380 chr22 31032881 31032881 G A rs8136373 SLC35E4 Synonymous SNV L148L 0.009 0.016 0.02 6 11 6 0.015 6 1 0 1 0 4.443 90381 chr9 2829879 2829879 C T rs144247869 PUM3 Synonymous SNV A249A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.63 90382 chr9 289557 289557 G A rs150742426 DOCK8 Nonsynonymous SNV R59H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 26.7 90383 chr9 33922791 33922791 G A rs138911165 UBAP2 Nonsynonymous SNV S292L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.1 90384 chrX 150832664 150832664 G A rs143974284 PASD1 Synonymous SNV E305E 0.01 0.016 0.02 3 12 6 0.008 6 3 1 2 1 0.546 90385 chr10 102798962 102798962 C A rs2277260 SFXN3 Synonymous SNV A288A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 19.72 90386 chrX 151123432 151123432 G A rs139368840 GABRE Nonsynonymous SNV P421L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.585 90387 chr8 22570902 22570902 G A rs201974520 PEBP4 Nonsynonymous SNV A222V 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 1.753 90388 chr9 34993437 34993437 G A rs147939946 DNAJB5 Synonymous SNV E141E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 3.463 90389 chr7 1474287 1474287 T G rs138745697 MICALL2 Nonsynonymous SNV K887T 0.01 0.008 0.017 5 12 3 0.013 5 0 0 0 0 Benign 23.7 90390 chr7 149172379 149172379 C T rs771349858 ZNF746 Nonsynonymous SNV G345E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 90391 chr10 105238728 105238728 C T rs979820266 CALHM3 Nonsynonymous SNV G21D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 90392 chrX 153036278 153036278 G A PLXNB3 Synonymous SNV L692L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.22 90393 chr9 136535855 136535855 C T rs147854817 SARDH Synonymous SNV A782A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 10.36 90394 chr8 23294557 23294557 G A rs139657829 ENTPD4 Nonsynonymous SNV H414Y 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 23.3 90395 chr9 35810673 35810673 C T rs138285220 SPAG8 Nonsynonymous SNV R349H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 33 90396 chr9 137777100 137777100 A G rs147936623 FCN2 Nonsynonymous SNV K68R 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 8.147 90397 chr9 137804383 137804383 G A rs141017404 FCN1 Synonymous SNV L183L 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 9.419 90398 chr20 19261696 19261696 C T rs34507363 SLC24A3 Nonsynonymous SNV A79V 0.013 0.029 0.024 1 15 11 0.003 7 0 0 0 0 6.617 90399 chr20 20243606 20243606 T A CFAP61 Nonsynonymous SNV C779S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 90400 chr20 21321450 21321450 C T rs139083502 XRN2 Nonsynonymous SNV P535L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 23.4 90401 chrX 25025329 25025329 G A rs75489697 ARX Synonymous SNV G449G 0.014 0.034 0.003 6 17 13 0.015 1 3 2 0 1 Benign 9.494 90402 chr20 23066213 23066213 - GGAAGGG CD93 Frameshift insertion Q206Pfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 90403 chr7 154587740 154587740 A G rs10236463 DPP6 Synonymous SNV P418P 0 0 0.095 0 0 0 0 28 0 0 13 0 4.636 90404 chr9 139390585 139390585 C T rs111627256 NOTCH1 Nonsynonymous SNV V2536I 0.007 0.003 0.003 3 8 1 0.008 1 1 0 0 0 Conflicting interpretations of pathogenicity 10.7 90405 chr22 38038605 38038605 C T rs138474798 SH3BP1 Synonymous SNV D89D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 18.52 90406 chr7 155150997 155150997 G A rs74831360 BLACE 0 0 0.014 0 0 0 0 4 0 0 0 0 7.051 90407 chr22 38097412 38097412 G C TRIOBP Nonsynonymous SNV E14Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 20.2 90408 chr7 155151018 155151018 G A rs12719963 BLACE 0 0 0.136 0 0 0 0 40 0 0 19 0 4.027 90409 chr7 155151095 155151095 T C rs12719962 BLACE 0 0 0.027 0 0 0 0 8 0 0 4 0 0.158 90410 chr9 5923103 5923103 G C rs200055080 KIAA2026 Nonsynonymous SNV L965V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 90411 chr7 1574183 1574183 C T rs145176413 LOC100128653 0 0 0.041 0 0 0 0 12 0 0 0 0 3.042 90412 chr10 115609214 115609214 A G rs761761851 DCLRE1A Synonymous SNV S550S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.836 90413 chr10 115966054 115966054 G C rs980066992 TDRD1 Nonsynonymous SNV S450T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.242 90414 chr9 71840285 71840285 A G rs763206171 TJP2 Nonsynonymous SNV K344E 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Uncertain significance 29.6 90415 chr9 2622147 2622152 CGGCGG - rs1064794642 VLDLR-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 90416 chrX 34148709 34148709 C G FAM47A Nonsynonymous SNV A563P 0.003 0.005 0 0 4 2 0 0 1 0 0 0 0.13 90417 chr9 2622152 2622152 - CGG VLDLR-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 90418 chr20 30662426 30662426 A G rs140850435 HCK Synonymous SNV E89E 0.007 0.005 0.014 3 8 2 0.008 4 0 0 0 0 10.98 90419 chr20 30898958 30898958 G A rs200187392 KIF3B Nonsynonymous SNV A460T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.818 90420 chrX 35966453 35966453 C T rs151267574 CFAP47 Synonymous SNV H180H 0.005 0.003 0 0 6 1 0 0 1 0 0 0 4.649 90421 chr20 31024704 31024704 G A rs146464648 ASXL1 Nonsynonymous SNV G1336S 0.007 0.005 0.014 3 8 2 0.008 4 0 0 0 0 Benign 20.4 90422 chr10 11797439 11797439 C T rs751388435 ECHDC3 Synonymous SNV P141P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 90423 chr9 140069828 140069828 C T rs144294113 ANAPC2 Nonsynonymous SNV R706H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 31 90424 chr9 74332974 74332974 T A CEMIP2 Synonymous SNV A700A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.983 90425 chr10 118351356 118351356 C T PNLIPRP1 Synonymous SNV P41P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.685 90426 chr9 140094306 140094306 G A rs375619082 TPRN Synonymous SNV C286C 0.002 0.003 0.003 6 2 1 0.015 1 0 0 0 0 Benign/Likely benign 11.12 90427 chrX 40460040 40460040 T C rs7691 ATP6AP2 Synonymous SNV Y255Y 0.032 0.016 0.007 3 37 6 0.008 2 9 1 0 0 Benign 3.79 90428 chr9 32448972 32448988 GAATATCTCCCTGGTGA - ACO1 Y818Cfs*43 0.003 0 0 2 4 0 0.005 0 0 0 0 0 90429 chr9 77567398 77567398 C T rs755319313 C9orf40 Nonsynonymous SNV G44R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 90430 chrX 47106715 47106715 C T rs10126669 USP11 Synonymous SNV F811F 0.024 0.018 0.003 6 28 7 0.015 1 5 0 0 2 13.19 90431 chr9 140150454 140150454 C T rs540900399 NELFB Synonymous SNV F114F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 90432 chr7 22196436 22196436 G A rs529948908 RAPGEF5 Nonsynonymous SNV T240M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 90433 chrX 48649629 48649629 C T rs372131208 GATA1 Nonsynonymous SNV P38L 0.003 0.005 0 3 4 2 0.008 0 2 0 0 1 Benign/Likely benign 23.3 90434 chrX 48978783 48978783 C T rs782009080 GPKOW Nonsynonymous SNV G141R 0.002 0.005 0 2 2 2 0.005 0 1 0 0 1 15.43 90435 chr7 23624887 23624887 G A rs73077128 CLK2P1 0 0 0.014 0 0 0 0 4 0 0 0 0 2.088 90436 chr8 52320832 52320832 G C rs145542518 PXDNL Nonsynonymous SNV L1118V 0.009 0.016 0.007 7 11 6 0.018 2 0 0 0 0 14.26 90437 chr10 123310871 123310871 A G rs755793 FGFR2 Nonsynonymous SNV M71T 0.007 0 0.01 1 8 0 0.003 3 1 0 0 0 Benign 0.197 90438 chr20 35422534 35422534 T A rs573070436 SOGA1 Synonymous SNV S1317S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.102 90439 chr20 35441224 35441224 C T rs371913374 SOGA1 Synonymous SNV P780P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.96 90440 chr20 35457584 35457584 T C rs61729266 SOGA1 Nonsynonymous SNV K315R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.84 90441 chr9 140772415 140772415 C T rs767457983 CACNA1B Synonymous SNV G10G 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.83 90442 chr10 123842467 123842467 C T rs78149003 TACC2 Nonsynonymous SNV A151V 0.004 0.013 0.003 3 5 5 0.008 1 0 0 0 0 Benign 0.05 90443 chr8 54793584 54793584 G C rs533825043 RGS20 Synonymous SNV T3T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.89 90444 chr9 140850231 140850231 G A rs200804118 CACNA1B Synonymous SNV E384E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 90445 chr9 141016320 141016320 G A rs41290003 CACNA1B Nonsynonymous SNV V2297M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.8 90446 chr10 123846179 123846179 A G rs61753074 TACC2 Synonymous SNV T1388T 0.005 0.013 0.003 3 6 5 0.008 1 1 0 0 0 0.295 90447 chr22 45312366 45312366 C T PHF21B Nonsynonymous SNV V108I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 90448 chr8 61778170 61778170 A G rs202039728 CHD7 Nonsynonymous SNV N842S 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.75 90449 chr7 26248139 26248139 A G rs142550836 CBX3 Synonymous SNV E98E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.85 90450 chr20 39833403 39833403 C T rs149503669 ZHX3 Nonsynonymous SNV A52T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.059 90451 chrX 69652456 69652456 G A rs35816342 GDPD2 Nonsynonymous SNV V416I 0.004 0.005 0 3 5 2 0.008 0 0 0 0 1 0.001 90452 chr20 39986540 39986540 G A rs2072969 LPIN3 Synonymous SNV L687L 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 10.88 90453 chr8 17849107 17849107 A G PCM1 Nonsynonymous SNV M1475V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23 90454 chr9 88938118 88938118 C G rs147535547 TUT7 Nonsynonymous SNV E726D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.377 90455 chr9 37733576 37733576 T A FRMPD1 Nonsynonymous SNV L368M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.8 90456 chr8 6728211 6728211 A T rs1800968 DEFB1 Nonsynonymous SNV C67S 0.002 0.008 0 7 2 3 0.018 0 0 0 0 0 24.2 90457 chr20 42891934 42891934 C T rs2425632 GDAP1L1 Synonymous SNV S146S 0.02 0.008 0.041 11 23 3 0.028 12 1 0 0 0 17.31 90458 chr7 29690439 29690439 A C rs10258473 LOC646762 0 0 0.014 0 0 0 0 4 0 0 1 0 1.533 90459 chr7 29690489 29690489 C T rs17603986 LOC646762 0 0 0.051 0 0 0 0 15 0 0 4 0 7.226 90460 chr9 215086 215086 A C rs147359731 DOCK8-AS1 0.022 0.026 0.027 3 26 10 0.008 8 0 0 0 0 5.666 90461 chr9 26995674 26995674 A C rs771992857 LRRC19 Nonsynonymous SNV F320V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.261 90462 chrX 9863587 9863587 G A rs61739685 SHROOM2 Nonsynonymous SNV A547T 0.005 0.003 0 3 6 1 0.008 0 1 0 0 1 0.001 90463 chr9 32630385 32630385 T G rs34241003 TAF1L Nonsynonymous SNV K1731N 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 6.406 90464 chr9 99404169 99404169 C T rs565273966 PRXL2C 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 26.5 90465 chr20 44523767 44523767 G A CTSA Nonsynonymous SNV M362I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.17 90466 chr8 23225572 23225572 C T rs138761125 LOXL2 Nonsynonymous SNV R98Q 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 35 90467 chr10 102768272 102768272 G A PDZD7 Synonymous SNV A1018A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.143 90468 chr8 23305357 23305357 T C rs142458188 ENTPD4 Nonsynonymous SNV N83S 0.014 0.008 0 9 16 3 0.023 0 0 0 0 0 5.066 90469 chr9 79319799 79319799 G A rs116876323 PRUNE2 Nonsynonymous SNV P2464L 0.007 0 0.007 4 8 0 0.01 2 0 0 0 0 10.86 90470 chr10 102770278 102770278 T C rs111287837 PDZD7 Nonsynonymous SNV K790E 0.026 0.021 0.02 12 31 8 0.031 6 0 0 1 0 Benign 12.36 90471 chr10 102770597 102770597 C T rs34693310 PDZD7 Synonymous SNV P683P 0.026 0.021 0.017 12 31 8 0.031 5 0 0 1 0 Benign 0.061 90472 chr8 24250787 24250787 C A rs776313245 ADAMDEC1 Nonsynonymous SNV P74T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.036 90473 chr10 134691434 134691434 T C rs142539335 CFAP46 Nonsynonymous SNV E1388G 0.02 0.016 0 5 23 6 0.013 0 0 0 0 0 10.13 90474 chr7 44146456 44146456 C T AEBP1 Nonsynonymous SNV P189S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 90475 chr9 4286255 4286255 G A rs117802495 GLIS3 Synonymous SNV N57N 0.005 0.016 0.007 0 6 6 0 2 0 0 0 0 Benign 5.937 90476 chr8 95172255 95172255 G A rs138443475 CDH17 Nonsynonymous SNV R499C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.39 90477 chrX 119512597 119512597 G A ATP1B4 Nonsynonymous SNV R294H 0.005 0.008 0 4 6 3 0.01 0 1 0 0 2 26.4 90478 chr10 135103416 135103416 G A rs141945979 TUBGCP2 Synonymous SNV N294N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.15 90479 chr8 96059304 96059304 A G rs193102273 NDUFAF6 Synonymous SNV P110P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign/Likely benign 10.2 90480 chr8 96259941 96259941 T C rs143748636 C8orf37 Synonymous SNV T144T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.543 90481 chr10 135168915 135168915 T G rs201184492 FUOM Nonsynonymous SNV I119L 0.009 0.01 0.003 3 11 4 0.008 1 0 0 0 0 22.5 90482 chr8 98699798 98699798 C T MTDH Nonsynonymous SNV T237I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.6 90483 chr9 95069263 95069263 T A rs199633476 NOL8 Nonsynonymous SNV E872D 0.005 0 0 0 6 0 0 0 0 0 0 0 22.8 90484 chr9 72741149 72741149 A G rs201213036 MAMDC2 Nonsynonymous SNV T240A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 25.9 90485 chr10 135351264 135351264 G A rs55897648 CYP2E1 Nonsynonymous SNV V389I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 90486 chr7 48278916 48278916 G A rs202132236 ABCA13 Nonsynonymous SNV G326S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.132 90487 chr7 4830940 4830940 C A AP5Z1 Nonsynonymous SNV A627D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 90488 chr8 2954547 2954547 G C rs905969929 CSMD1 Nonsynonymous SNV A2321G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 90489 chr7 4839894 4839894 G A rs200704658 RADIL Nonsynonymous SNV R964C 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 12.16 90490 chr9 742216 742216 G A rs536447962 KANK1 Synonymous SNV T980T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 90491 chrX 19482454 19482454 C T rs55916006 MAP3K15 Nonsynonymous SNV S199N 0.02 0.016 0.007 8 24 6 0.021 2 7 2 1 2 Benign 8.082 90492 chr8 30704110 30704110 C T rs142018907 TEX15 Synonymous SNV P1191P 0.003 0 0 5 4 0 0.013 0 0 0 0 0 11.14 90493 chrX 21675434 21675434 A G rs145604187 KLHL34 Nonsynonymous SNV L158S 0.022 0.008 0.007 6 26 3 0.015 2 8 1 1 1 23.2 90494 chr9 97220740 97220740 C T rs143357486 MFSD14B Synonymous SNV P421P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.02 90495 chr10 19612955 19612955 C T rs190717256 MALRD1 Nonsynonymous SNV P1166L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 90496 chr8 37655020 37655020 G A rs200372327 ADGRA2 Synonymous SNV E78E 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 8.188 90497 chr10 21097546 21097546 G A rs143584663 NEBL Nonsynonymous SNV S885F 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Likely benign 31 90498 chr10 21784647 21784647 C A rs143363975 MIR1915HG 0.009 0.018 0.017 3 10 7 0.008 5 0 0 0 0 12.3 90499 chr10 21804386 21804386 C T rs200920908 SKIDA1 Nonsynonymous SNV R789Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 90500 chrX 101970780 101970780 C G rs777172000 ARMCX5-GPRASP2, GPRASP2 Nonsynonymous SNV S328C 0.005 0 0 2 6 0 0.005 0 1 0 0 1 23.3 90501 chr10 23244857 23244857 T C rs144098038 ARMC3 Synonymous SNV S96S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.315 90502 chr10 115610004 115610004 G A rs17235094 DCLRE1A Nonsynonymous SNV P287L 0.012 0.016 0.003 0 14 6 0 1 0 0 0 0 12.79 90503 chrX 105011170 105011170 G A rs377437750 IL1RAPL2 Nonsynonymous SNV R526H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.34 90504 chrX 106396506 106396506 T C rs35155882 NUP62CL Synonymous SNV S142S 0.022 0.008 0.02 5 26 3 0.013 6 8 1 3 1 0.349 90505 chrX 106845820 106845820 C T rs41305439 FRMPD3 Synonymous SNV S1550S 0.006 0.005 0 4 7 2 0.01 0 2 0 0 1 1.945 90506 chrX 107310234 107310234 C T rs138849840 VSIG1 Synonymous SNV N94N 0.023 0.013 0.037 9 27 5 0.023 11 9 1 2 2 Benign 9.54 90507 chr10 1175182 1175182 A G rs145677528 WDR37 Synonymous SNV A461A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.693 90508 chrX 151818903 151818903 G A rs782159275 GABRQ Nonsynonymous SNV R254H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 90509 chr10 117856236 117856236 C G GFRA1 Nonsynonymous SNV E149D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 90510 chr9 85620396 85620396 G A rs114161259 RASEF Nonsynonymous SNV H350Y 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 90511 chr10 27322303 27322303 C G rs12572862 ANKRD26 Nonsynonymous SNV V1219L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 12.52 90512 chr10 27342286 27342288 TCT - rs138423863 ANKRD26 E533del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 90513 chr9 85863174 85863174 C A rs4877747 FRMD3 Nonsynonymous SNV D142Y 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 27.5 90514 chr20 61444873 61444873 G A rs141833389 OGFR Nonsynonymous SNV E636K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.02 90515 chrX 152663463 152663498 GCTCCTGCCTCACCCACAGCTCCTGCCTCACCTGCT - PNMA6E A282_G293del 0.003 0.005 0 3 4 2 0.008 0 1 0 0 1 90516 chr10 27508746 27508746 G A rs12572325 ACBD5 Synonymous SNV T68T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.22 90517 chr20 61870783 61870783 G A rs150789557 BIRC7 Synonymous SNV A223A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.545 90518 chr9 91606812 91606812 G A rs34421923 C9orf47 Nonsynonymous SNV S173N 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 5.916 90519 chr9 91617108 91617108 G A rs145599244 S1PR3 Synonymous SNV A331A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.551 90520 chr8 67341714 67341714 G C rs34077648 RRS1 Nonsynonymous SNV Q116H 0.013 0 0.01 2 15 0 0.005 3 0 0 0 0 26 90521 chr8 67342257 67342257 G A rs61747714 RRS1 Synonymous SNV Q297Q 0.013 0 0.01 2 15 0 0.005 3 0 0 0 0 0.636 90522 chrX 153694326 153694326 G A rs782236993 PLXNA3 Nonsynonymous SNV V861M 0.014 0.008 0 5 17 3 0.013 0 3 0 0 2 0.002 90523 chrX 153696702 153696702 C T rs150847200 PLXNA3 Synonymous SNV R1340R 0.003 0.005 0 0 4 2 0 0 1 0 0 0 9.682 90524 chr10 123843357 123843357 G T rs77657275 TACC2 Nonsynonymous SNV A448S 0.01 0.013 0.017 3 12 5 0.008 5 0 0 0 0 0.062 90525 chrX 130217766 130217766 C T rs139864201 ARHGAP36 Synonymous SNV T114T 0.032 0.034 0.014 8 37 13 0.021 4 9 5 1 2 9.013 90526 chrX 66765159 66765176 GCAGCAGCAGCAGCAGCA - rs1064793445 AR Q75_Q80del 0.003 0.003 0 1 4 1 0.003 0 1 0 0 0 90527 chr7 80301243 80301243 - A CD36 Frameshift insertion P299Hfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 90528 chr7 80301245 80301245 - TCAGGGAGGAA CD36 Frameshift insertion V300Sfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 90529 chrX 23933912 23933912 G A rs62584865 CXorf58 0.008 0.01 0.01 0 9 4 0 3 2 1 1 0 24.3 90530 chr9 115931675 115931675 C G FKBP15 Nonsynonymous SNV G1105A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.612 90531 chr9 115931678 115931678 T C rs759345947 FKBP15 Nonsynonymous SNV E1104G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.5 90532 chr9 97522658 97522658 G A rs370911982 AOPEP Nonsynonymous SNV R198H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 90533 chr9 98638242 98638242 T G rs141071823 LINC00476 0.01 0.013 0.01 6 12 5 0.015 3 0 0 0 0 5.677 90534 chrX 74332742 74332742 G A rs140031135 ABCB7 Synonymous SNV L78L 0.006 0.016 0.007 1 7 6 0.003 2 1 1 0 0 Benign 9.428 90535 chr9 99537071 99537071 T C rs2289651 ZNF510 Nonsynonymous SNV Q43R 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 22.9 90536 chr10 127668744 127668744 T A rs151290957 FANK1 Nonsynonymous SNV S10T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.62 90537 chrX 150908168 150908168 G T rs144366408 CNGA2 Nonsynonymous SNV G113V 0.011 0.013 0.014 2 13 5 0.005 4 2 2 0 1 Benign 12.47 90538 chr21 28212720 28212720 T C rs201731104 ADAMTS1 Nonsynonymous SNV T514A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.38 90539 chr1 909853 909853 C T rs759820256 PLEKHN1 Synonymous SNV P543P 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 10.29 90540 chrX 47774599 47774599 C T rs186251256 ZNF81 Nonsynonymous SNV S185L 0.019 0.013 0.007 2 22 5 0.005 2 4 2 1 0 Benign 12.58 90541 chr8 99170198 99170198 G A rs756634206 POP1 Nonsynonymous SNV R925H 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 3.044 90542 chrX 152772036 152772036 C T BGN Synonymous SNV F205F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.38 90543 chr7 94049548 94049548 G C COL1A2 Nonsynonymous SNV E695Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 90544 chr21 30411835 30411835 C T rs146992992 USP16 Synonymous SNV D298D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.87 90545 chr7 97866165 97866165 A G TECPR1 Synonymous SNV S368S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.857 90546 chrX 49142304 49142304 C T rs139746768 PPP1R3F Synonymous SNV D38D 0.012 0.013 0.01 4 14 5 0.01 3 1 2 1 1 Benign 1.085 90547 chrX 153578465 153578465 G A rs200198847 FLNA Nonsynonymous SNV P2415S 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 Benign/Likely benign 19.85 90548 chr7 99669003 99669003 G A rs749573851 ZNF3 Synonymous SNV Y375Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.765 90549 chrX 153593616 153593616 G A rs202029322 FLNA Nonsynonymous SNV R527C 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 Conflicting interpretations of pathogenicity 28 90550 chrX 54112185 54112185 C T rs41304786 FAM120C Nonsynonymous SNV M934I 0.019 0.018 0 4 22 7 0.01 0 4 0 0 0 7.044 90551 chr21 32537308 32537308 A T rs143173605 TIAM1 Nonsynonymous SNV S963T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 90552 chrX 54160362 54160362 C A FAM120C Nonsynonymous SNV E578D 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 12.75 90553 chr9 101304302 101304302 A G rs35449008 GABBR2 Synonymous SNV P161P 0.024 0.018 0.031 10 28 7 0.026 9 1 0 0 0 Benign 4.675 90554 chrX 140993802 140994011 CTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC - MAGEC1 L211_L280del 0.009 0.008 0 4 11 3 0.01 0 5 1 0 2 90555 chrX 54957689 54957689 A G rs927094123 TRO Nonsynonymous SNV H283R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.591 90556 chr21 32638679 32638679 C T rs113219144 TIAM1 Nonsynonymous SNV E204K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 90557 chrX 154012346 154012346 G A rs144845406 MPP1 Synonymous SNV V257V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.76 90558 chrX 16859758 16859758 C T TXLNG Nonsynonymous SNV H354Y 0.015 0.008 0 3 18 3 0.008 0 5 0 0 1 0.065 90559 chrX 123467970 123467970 G T rs774860995 TEX13D Nonsynonymous SNV Q401H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.065 90560 chrX 66765159 66765170 GCAGCAGCAGCA - rs781380725 AR Q77_Q80del 0.006 0.018 0.003 3 7 7 0.008 1 0 3 0 0 90561 chrX 19564042 19564042 G C rs61761898 SH3KBP1 Nonsynonymous SNV Q303E 0.014 0.01 0.02 2 16 4 0.005 6 3 1 2 0 Benign 11.82 90562 chrX 67938311 67938311 C T STARD8 Nonsynonymous SNV H439Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.89 90563 chrX 69478421 69478421 G T rs72628860 P2RY4 Nonsynonymous SNV P352T 0.021 0.008 0.024 10 25 3 0.026 7 6 0 3 3 0.002 90564 chrX 69478736 69478736 T C rs56217451 P2RY4 Nonsynonymous SNV I247V 0.021 0.008 0.024 10 25 3 0.026 7 6 0 3 3 14.69 90565 chrX 21674999 21674999 C T rs149145132 KLHL34 Nonsynonymous SNV R303K 0.008 0.005 0 1 9 2 0.003 0 3 1 0 0 0.001 90566 chrX 23897081 23897081 C A rs868494655 APOO Nonsynonymous SNV S63I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 90567 chr9 105765508 105765508 G A rs201912645 CYLC2 Nonsynonymous SNV R48K 0.003 0 0 0 3 0 0 0 0 0 0 0 25 90568 chrX 70145757 70145757 C G rs149447856 SLC7A3 Nonsynonymous SNV S589T 0.005 0.016 0.003 3 6 6 0.008 1 2 2 0 1 Likely pathogenic 26.7 90569 chrX 153173256 153173256 C T rs782780656 ARHGAP4 Nonsynonymous SNV R923Q 0.003 0 0 0 4 0 0 0 2 0 0 0 16.37 90570 chr21 35757787 35757787 C T rs61747964 SMIM11A, SMIM11B Synonymous SNV H8H 0.033 0.016 0.01 13 39 6 0.033 3 0 0 0 0 14.24 90571 chr21 35757915 35757915 A G rs34016792 SMIM11A, SMIM11B Nonsynonymous SNV K51R 0.033 0.016 0.02 13 39 6 0.033 6 0 0 0 0 0.27 90572 chr10 52576025 52576025 G A rs142026324 A1CF Synonymous SNV S294S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.7 90573 chr8 107738486 107738486 G A rs145739822 OXR1 Stop gain W5X 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 16.61 90574 chr8 108509559 108509559 C T rs147086219 ANGPT1 Synonymous SNV P76P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 14.14 90575 chr8 108509631 108509631 G T rs148142982 ANGPT1 Synonymous SNV G52G 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign 3.369 90576 chrX 140993886 140993886 T A rs113166002 MAGEC1 Synonymous SNV P232P 0.001 0 0 2 1 0 0.005 0 0 0 0 1 0.172 90577 chr10 17746464 17746464 G A rs143028815 STAM Nonsynonymous SNV S219N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 90578 chr8 110334585 110334585 A G rs374365139 NUDCD1 Nonsynonymous SNV Y47H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27 90579 chr21 38308774 38308774 C T rs61732501 HLCS Nonsynonymous SNV R471H 0.024 0.016 0.024 7 28 6 0.018 7 0 0 0 0 Benign 4.574 90580 chrX 140993926 140993926 C G rs76335605 MAGEC1 Nonsynonymous SNV L246V 0.003 0 0 2 4 0 0.005 0 0 0 0 1 12.06 90581 chr9 112900341 112900341 G A rs34665027 PALM2AKAP2 Synonymous SNV E697E 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 0.089 90582 chrX 140993932 140993932 C A rs141965436 MAGEC1 Nonsynonymous SNV L248I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 1 8.865 90583 chr10 5803368 5803368 A G rs41290259 TASOR2 Nonsynonymous SNV I2289V 0.013 0.013 0.017 3 15 5 0.008 5 0 0 0 0 0.001 90584 chrX 9863618 9863618 G A rs915869070 SHROOM2 Nonsynonymous SNV R557H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 90585 chrX 41000657 41000657 A G USP9X Synonymous SNV E378E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.201 90586 chrX 44401328 44401328 G A rs142075113 FUNDC1 Synonymous SNV D16D 0.021 0.016 0.02 10 25 6 0.026 6 3 0 2 3 5.879 90587 chrX 47835798 47835798 G A rs782353401 ZNF182 Nonsynonymous SNV T544M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 90588 chrX 48337083 48337083 G T rs138008946 FTSJ1 Synonymous SNV G90G 0.008 0 0 0 9 0 0 0 2 0 0 0 Benign 5.819 90589 chrX 48385586 48385586 C T rs142881014 EBP Synonymous SNV L128L 0.008 0 0 0 9 0 0 0 2 0 0 0 Conflicting interpretations of pathogenicity 6.774 90590 chr10 101294816 101294816 C A rs79873574 NKX2-3 Nonsynonymous SNV P145T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 90591 chr10 101503112 101503112 C T rs756068220 CUTC Synonymous SNV S132S 0.003 0 0 0 4 0 0 0 0 0 0 0 16.22 90592 chr10 101605503 101605503 C T rs7899457 ABCC2 Synonymous SNV L1370L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 13.02 90593 chr10 101610455 101610455 G A rs8187706 ABCC2 Synonymous SNV E1470E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 13.58 90594 chrX 49065050 49065050 C T rs147329320 CACNA1F Nonsynonymous SNV G1683E 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.8 90595 chrX 152585123 152585123 A C PNMA6F Nonsynonymous SNV M337R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.39 90596 chr8 120865336 120865336 G A rs750237304 DSCC1 Nonsynonymous SNV P101L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 90597 chr10 69672479 69672479 G A rs116040871 SIRT1 Nonsynonymous SNV E233K 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 Benign 22.8 90598 chr10 27335399 27335399 C T rs28477279 ANKRD26 Nonsynonymous SNV R622Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 6.719 90599 chr8 121224799 121224799 C T rs748226555 COL14A1 Nonsynonymous SNV T527M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 90600 chr10 102046381 102046381 C G rs61743711 BLOC1S2 Synonymous SNV R12R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.201 90601 chr10 102107835 102107835 - ACC rs780578159 SCD T19_I20insT 0.003 0 0 0 4 0 0 0 0 0 0 0 90602 chrX 54949971 54949971 C T rs773501155 TRO Nonsynonymous SNV R336W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.5 90603 chr10 27702804 27702804 T C rs12098477 PTCHD3 Nonsynonymous SNV T126A 0.003 0.005 0.003 0 3 2 0 1 1 0 0 0 Benign 0.001 90604 chrX 35938096 35938096 C T rs148872967 CFAP47 Synonymous SNV L60L 0.029 0.021 0.044 6 34 8 0.015 13 10 1 5 1 6.113 90605 chr10 27703001 27703001 A G rs114320796 PTCHD3 Nonsynonymous SNV L60P 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 Benign 2.809 90606 chr9 132501893 132501893 C T rs201989691 PTGES Synonymous SNV L152L 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 12.77 90607 chr10 27703017 27703017 C T rs114966308 PTCHD3 Nonsynonymous SNV E55K 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 20.5 90608 chrX 6069121 6069121 G A rs148008271 NLGN4X Synonymous SNV T129T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.069 90609 chr10 27703023 27703023 A G rs116622695 PTCHD3 Nonsynonymous SNV S53P 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 0.001 90610 chr10 27703118 27703118 G C rs115676272 PTCHD3 Nonsynonymous SNV P21R 0.003 0.005 0.003 0 3 2 0 1 1 0 0 0 0.001 90611 chr1 11087551 11087551 G A rs201886741 MASP2 Synonymous SNV A484A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 7.887 90612 chr10 27826951 27826951 G A rs11015859 RAB18 Nonsynonymous SNV A134T 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 14.03 90613 chr10 102740357 102740357 C T rs7901675 SEMA4G Synonymous SNV A458A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 17.33 90614 chr10 102740743 102740743 C T rs7905266 SEMA4G Synonymous SNV S544S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 13.15 90615 chr10 102763761 102763761 T C rs116439695 LZTS2 Synonymous SNV P302P 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 2.115 90616 chrX 38009034 38009034 A G rs757465074 SRPX Nonsynonymous SNV I422T 0.002 0 0 0 2 0 0 0 1 0 0 0 23.4 90617 chr1 11147592 11147592 C T rs374419101 EXOSC10 Synonymous SNV R334R 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 15.69 90618 chr10 29169219 29169219 T C rs893915539 C10orf126 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.669 90619 chrX 38020288 38020288 G A rs1123773 SRPX Nonsynonymous SNV P205S 0.013 0.013 0.003 2 15 5 0.005 1 3 2 0 0 Benign 18.16 90620 chrX 41022065 41022065 A C rs569095263 USP9X Nonsynonymous SNV Q640H 0.005 0.003 0 1 6 1 0.003 0 1 0 0 0 23.4 90621 chrX 153416209 153416209 C T rs782815809 OPN1LW Nonsynonymous SNV T65I 0.009 0.003 0 2 10 1 0.005 0 1 0 0 1 0.001 90622 chr10 103360938 103360938 G A rs73349886 DPCD Synonymous SNV S94S 0.007 0.01 0.007 4 8 4 0.01 2 0 0 0 0 10.21 90623 chr10 103870346 103870346 C T rs12254799 LDB1 Synonymous SNV V155V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.82 90624 chr10 104156028 104156028 G A rs45581936 NFKB2 Nonsynonymous SNV E14K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 24.7 90625 chr21 45172431 45172431 C T rs372855286 PDXK Synonymous SNV D141D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.818 90626 chrX 48768871 48768871 G T rs55719932 SLC35A2 Nonsynonymous SNV P15T 0.043 0.034 0.024 9 50 13 0.023 7 14 3 2 3 Benign 7.326 90627 chr10 104170841 104170841 G A rs12254663 PSD Synonymous SNV L659L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.51 90628 chr21 45671108 45671108 C T rs151001055 DNMT3L-AS1 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 6.96 90629 chr9 117848368 117848368 C T rs61729478 TNC Nonsynonymous SNV V548M 0.017 0.008 0 5 20 3 0.013 0 0 0 0 0 Benign 13.7 90630 chr10 105218052 105218052 C T rs114710405 CALHM1 Nonsynonymous SNV A153T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 11.16 90631 chr8 133090064 133090064 G A rs199597637 HHLA1 Synonymous SNV T360T 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 7.547 90632 chr10 105362187 105362187 C T rs778304934 SH3PXD2A Nonsynonymous SNV E811K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 90633 chrX 69500654 69500654 C G rs140505250 ARR3 Nonsynonymous SNV P351R 0.006 0 0 0 7 0 0 0 3 0 0 0 32 90634 chr10 73563067 73563067 G C rs41281338 CDH23 Nonsynonymous SNV E348Q 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 90635 chr10 45878050 45878050 G A rs2228064 ALOX5 Synonymous SNV T90T 0.005 0.013 0.017 2 6 5 0.005 5 0 0 0 0 14.8 90636 chr10 73964243 73964243 G C rs11000217 ASCC1 Stop gain S78X 0.01 0.016 0.014 8 12 6 0.021 4 0 0 0 0 25.7 90637 chr10 73972957 73972957 C T rs11558719 ASCC1 Nonsynonymous SNV D34N 0.01 0.016 0.014 8 12 6 0.021 4 0 0 0 0 23.9 90638 chr21 47532288 47532288 G A rs200710788 COL6A2 Nonsynonymous SNV G171R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 90639 chr1 15653679 15653681 TCT - rs762257720 FHAD1-AS1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 90640 chr9 135470473 135470473 C T rs35447016 DDX31 Nonsynonymous SNV S706N 0.009 0.013 0.003 2 11 5 0.005 1 0 0 0 0 12.01 90641 chr21 47545900 47545900 G T rs145450812 COL6A2 Nonsynonymous SNV R724L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 23.5 90642 chr21 47545966 47545966 C T rs761863452 COL6A2 Nonsynonymous SNV A746V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 90643 chr10 114136187 114136187 - GAT rs752698749 ACSL5 D41_A42insD 0.002 0 0 0 2 0 0 0 0 0 0 0 90644 chr1 16261809 16261809 C G rs764445929 SPEN Nonsynonymous SNV S3025C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 90645 chr1 1903468 1903468 C T rs199894647 CFAP74 Nonsynonymous SNV R280Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 6.396 90646 chr9 136302984 136302984 G C rs148472763 ADAMTS13 Synonymous SNV G517G 0.013 0.01 0.007 2 15 4 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.878 90647 chr10 75671301 75671301 C G rs549887547 C10orf55 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 90648 chr10 75855541 75855541 C T rs137877092 VCL Synonymous SNV D557D 0.017 0.013 0.003 3 20 5 0.008 1 0 0 0 0 Benign/Likely benign 15.57 90649 chr10 76285163 76285163 T C rs16931480 ADK Synonymous SNV D200D 0.02 0.013 0.003 5 24 5 0.013 1 0 0 0 0 Benign 7.173 90650 chr10 76735727 76735727 T C KAT6B Synonymous SNV F544F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 90651 chr10 76735944 76735944 A G rs759212867 KAT6B Nonsynonymous SNV I617V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.702 90652 chr10 76863697 76863697 G C rs1049233596 DUSP13 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.728 90653 chr8 144640059 144640062 TTGT - LOC100310756 0 0 0.003 0 0 0 0 1 0 0 0 0 90654 chr8 144644637 144644637 C G rs777154727 GSDMD Nonsynonymous SNV H386Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 90655 chr10 102006625 102006625 G A rs7073610 CWF19L1 Nonsynonymous SNV P122L 0.026 0.039 0.044 8 30 15 0.021 13 1 2 1 0 Likely benign 22.8 90656 chr10 102042665 102042665 A G rs907633135 BLOC1S2 Nonsynonymous SNV V10A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 90657 chr10 102046380 102046380 T G rs33965491 BLOC1S2 Nonsynonymous SNV S13R 0.027 0.039 0.044 6 32 15 0.015 13 1 2 1 0 4.883 90658 chr10 102048208 102048208 G T rs12782963 PKD2L1 Nonsynonymous SNV A741D 0.024 0.039 0.041 6 28 15 0.015 12 1 2 1 0 23 90659 chr10 102050242 102050242 C A rs6584356 PKD2L1 Nonsynonymous SNV R634L 0.026 0.039 0.048 6 31 15 0.015 14 1 2 1 0 18.75 90660 chr10 105928597 105928597 C G rs757972867 CFAP43 Nonsynonymous SNV D866H 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 24.2 90661 chr10 8051220 8051220 G T TAF3 Nonsynonymous SNV G832V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 90662 chr10 102740026 102740026 C T rs150071842 SEMA4G Nonsynonymous SNV R426C 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 25 90663 chr1 20141237 20141237 G T rs139260117 RNF186 Nonsynonymous SNV P120T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 90664 chr10 112544125 112544125 C T rs189569984 RBM20 Nonsynonymous SNV S455L 0.013 0.008 0.003 4 15 3 0.01 1 0 0 0 0 Benign/Likely benign 23.3 90665 chr1 20417136 20417136 G A rs140232035 PLA2G5 Nonsynonymous SNV R123Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 22.1 90666 chr1 6311414 6311414 G A rs141324744 GPR153 Synonymous SNV D321D 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 6.149 90667 chr10 118425322 118425322 A C rs76008971 C10orf82 Nonsynonymous SNV L24R 0.003 0 0 0 3 0 0 0 0 0 0 0 15.58 90668 chr10 84745221 84745221 G A rs138878772 NRG3 Nonsynonymous SNV E651K 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Benign 31 90669 chr10 118464787 118464787 G A rs61742078 HSPA12A Synonymous SNV N43N 0.003 0 0 0 3 0 0 0 0 0 0 0 3.455 90670 chr10 118969353 118969353 C T rs363360 KCNK18 Nonsynonymous SNV A233V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 3.634 90671 chr22 20100971 20100971 - A rs775008845 TRMT2A Frameshift insertion N473Efs*6 0.004 0.005 0 0 5 2 0 0 0 0 0 0 90672 chr10 85985194 85985194 C T rs12773843 LRIT2 Nonsynonymous SNV C28Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.1 90673 chr1 6635145 6635145 T C rs754592015 TAS1R1 Nonsynonymous SNV I318T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 90674 chr10 120789413 120789413 C A rs191267549 NANOS1 Nonsynonymous SNV P34T 0.043 0.023 0.024 22 51 9 0.056 7 1 0 0 0 21.3 90675 chr10 120790127 120790141 CCGCCGCCCGCCCGC - rs781385061 NANOS1 A275_P279del 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 90676 chr10 105166424 105166424 C T rs139423894 PDCD11 Synonymous SNV N249N 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 11.15 90677 chr9 139369091 139369091 C T rs11788702 SEC16A Nonsynonymous SNV A993T 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 Likely benign 23.7 90678 chr9 139566503 139566503 C T rs45544036 EGFL7 Synonymous SNV S254S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 16.23 90679 chr10 88703732 88703732 C T rs79370279 MMRN2 Nonsynonymous SNV R270H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 90680 chr1 9079365 9079365 G A rs10864379 SLC2A7 Synonymous SNV I113I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 15.43 90681 chr1 9098046 9098046 C T rs768007033 SLC2A5 Synonymous SNV L257L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.43 90682 chr1 9323993 9323993 G A rs905462770 H6PD Nonsynonymous SNV A492T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 90683 chr10 105837280 105837280 G A rs776183212 COL17A1 Synonymous SNV G34G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 90684 chr10 123842420 123842420 T C TACC2 Synonymous SNV T135T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.272 90685 chr1 9671935 9671935 C T rs4073292 TMEM201 Synonymous SNV A630A 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 11.98 90686 chr1 9673046 9673046 C T rs11799995 TMEM201 Nonsynonymous SNV R636C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 25.7 90687 chr1 23759746 23759746 G C ASAP3 Nonsynonymous SNV P707R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.2 90688 chr10 11912332 11912332 C T rs12253554 PROSER2 Nonsynonymous SNV A412V 0.053 0.026 0.061 13 62 10 0.033 18 5 0 0 0 23.1 90689 chr22 23629372 23629372 G A rs147018000 BCR Synonymous SNV T811T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.939 90690 chr10 114205074 114205074 C T rs34350728 ZDHHC6 Nonsynonymous SNV D41N 0.013 0.008 0 8 15 3 0.021 0 0 0 0 0 28.7 90691 chr10 61832656 61832656 C G rs201362986 ANK3 Nonsynonymous SNV K2661N 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 7.221 90692 chr10 124358475 124358475 T A rs371192521 DMBT1 Nonsynonymous SNV F549I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 90693 chr10 120810091 120810091 T C rs61729195 EIF3A Synonymous SNV T805T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.838 90694 chr22 24036094 24036094 T C rs927500473 RGL4 Nonsynonymous SNV L282P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 90695 chr10 61941147 61941147 A G rs34552044 ANK3 Synonymous SNV D691D 0.037 0.029 0.02 11 43 11 0.028 6 0 0 1 0 Likely benign 7.783 90696 chr22 24106506 24106506 G A rs143257161 C22orf15 Nonsynonymous SNV E58K 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 23.5 90697 chr9 140127366 140127366 G A rs770152572 SLC34A3 Nonsynonymous SNV M145I 0.01 0 0 6 12 0 0.015 0 0 0 0 0 23.5 90698 chr10 124895656 124895656 G A rs201518175 HMX3 Synonymous SNV P30P 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 11.05 90699 chr9 140243679 140243679 G T rs372293078 EXD3 Synonymous SNV A571A 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 0.483 90700 chr9 140243973 140243973 G A rs116575725 EXD3 Nonsynonymous SNV A502V 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 0.609 90701 chr22 24447303 24447303 G A rs17004823 CABIN1 Nonsynonymous SNV D225N 0.022 0.023 0.003 3 26 9 0.008 1 0 1 0 0 5.495 90702 chr9 140245853 140245853 G A rs201801336 EXD3 Nonsynonymous SNV S434L 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 5.978 90703 chr9 134349011 134349011 C G rs145914427 PRRC2B Nonsynonymous SNV P742A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 90704 chr9 140247103 140247103 C T rs115998217 EXD3 Nonsynonymous SNV V336M 0.016 0.018 0.003 4 19 7 0.01 1 1 0 0 0 2.578 90705 chr22 24460593 24460593 A C rs9624395 CABIN1 Nonsynonymous SNV R610S 0.022 0.023 0.003 3 26 9 0.008 1 0 1 0 0 0.172 90706 chr10 96824658 96824658 C T rs41286886 CYP2C8 Nonsynonymous SNV V79I 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign 10.35 90707 chr10 97146764 97146764 T C rs192301428 SORBS1 Synonymous SNV Q470Q 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 0.411 90708 chr22 24724816 24724816 A G rs6004132 SPECC1L Nonsynonymous SNV T717A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 14.75 90709 chr22 24829522 24829522 G A rs146232387 ADORA2A Synonymous SNV A50A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.85 90710 chr22 24836998 24836998 C T rs141377465 ADORA2A Synonymous SNV P260P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.96 90711 chr1 12090155 12090155 G A MIIP Nonsynonymous SNV A306T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 90712 chr22 24953714 24953714 C T rs140985880 SNRPD3 Synonymous SNV T24T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.67 90713 chr10 127967532 127967532 C T rs75316572 ADAM12 Nonsynonymous SNV R71Q 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 12.4 90714 chr8 146229040 146229040 T G rs2978419 ZNF252P-AS1 0 0 0.109 0 0 0 0 32 0 0 6 0 5.014 90715 chr10 98157035 98157035 G A rs142713663 TLL2 Nonsynonymous SNV P431L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 90716 chr9 140508815 140508815 C T rs753374852 ARRDC1 Nonsynonymous SNV A228V 0.009 0 0 5 11 0 0.013 0 0 0 0 0 12.65 90717 chr8 17396415 17396415 G A rs13259978 SLC7A2 Nonsynonymous SNV D28N 0.02 0.021 0.014 8 24 8 0.021 4 0 0 0 0 7.093 90718 chr10 123954685 123954685 G A TACC2 Nonsynonymous SNV E67K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.8 90719 chr9 135261962 135261962 C T rs1011490307 TTF1 Nonsynonymous SNV D272N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 90720 chr10 129904654 129904654 C G rs45438392 MKI67 Nonsynonymous SNV R1457T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 22.7 90721 chr9 136029045 136029045 G A rs62638709 GBGT1 Synonymous SNV D304D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 6.427 90722 chr1 27948132 27948132 G A rs2231870 FGR Synonymous SNV S122S 0.018 0.021 0.017 6 21 8 0.015 5 0 0 0 0 Benign 13.52 90723 chr22 27008118 27008118 G A rs762814574 CRYBB1 Stop gain R73X 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Uncertain significance 35 90724 chr22 29444445 29444445 C A rs55775472 ZNRF3 Nonsynonymous SNV H327Q 0.014 0.013 0.017 3 16 5 0.008 5 0 0 0 0 28.2 90725 chr8 19231093 19231093 C T rs150534166 SH2D4A Nonsynonymous SNV R279W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 90726 chr1 29527028 29527028 G A rs148978800 MECR Nonsynonymous SNV A201V 0.017 0.021 0.017 7 20 8 0.018 5 0 0 0 0 Benign/Likely benign 25.9 90727 chr10 126507965 126507965 C T rs374553426 ABRAXAS2 Synonymous SNV Y71Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 90728 chr1 17296315 17296315 G C rs146260866 CROCC Nonsynonymous SNV E1779D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.84 90729 chr10 1284303 1284303 C T rs146452150 ADARB2 Nonsynonymous SNV G418S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 90730 chr22 30768107 30768107 G A rs368707665 CCDC157 Synonymous SNV A389A 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 16.14 90731 chr1 17599906 17599906 T C rs770402727 PADI3 Synonymous SNV N373N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.155 90732 chr10 75185687 75185687 G A rs148150974 MSS51 Synonymous SNV P317P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.684 90733 chr10 134511340 134511340 G A rs142268843 INPP5A Nonsynonymous SNV A67T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.168 90734 chr9 138418332 138418332 T - LCN1 L224Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 90735 chr10 134599389 134599389 T G rs201425867 NKX6-2 Nonsynonymous SNV M22L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 20.8 90736 chr10 129903165 129903165 T C rs111515190 MKI67 Synonymous SNV L1953L 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 Benign 0.137 90737 chr8 23104250 23104250 A G rs375262054 CHMP7 Synonymous SNV G14G 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 4.146 90738 chr10 126692055 126692055 C T rs755005723 CTBP2 Nonsynonymous SNV R90H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 90739 chr10 79581088 79581088 G A DLG5 Nonsynonymous SNV P1052S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.005 90740 chr10 127431647 127431647 T A rs772743982 EDRF1 Nonsynonymous SNV L764M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.1 90741 chr8 23386571 23386571 G C rs200459609 SLC25A37 Nonsynonymous SNV G19A 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 22.6 90742 chr8 24199218 24199218 C A rs36041430 ADAM28 Nonsynonymous SNV T593K 0.016 0.013 0.034 9 19 5 0.023 10 0 0 0 0 0.005 90743 chr8 24207399 24207399 G C rs7829944 ADAM28 Synonymous SNV V671V 0.016 0.013 0.031 10 19 5 0.026 9 0 0 0 0 1.39 90744 chr8 24207438 24207438 G A rs7829965 ADAM28 Nonsynonymous SNV M684I 0.016 0.013 0.031 10 19 5 0.026 9 0 0 0 0 0.003 90745 chr10 129245685 129245685 C T rs375977899 DOCK1 Nonsynonymous SNV A1814V 0.003 0 0 0 3 0 0 0 0 0 0 0 13.87 90746 chr10 82095942 82095942 C A rs754480821 DYDC1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 90747 chr10 15646225 15646225 T C rs9333166 ITGA8 Synonymous SNV G685G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 0.084 90748 chr10 15688877 15688877 T C rs139249793 ITGA8 Nonsynonymous SNV H377R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 90749 chr10 15761747 15761747 A G rs56145228 ITGA8 Synonymous SNV G8G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.14 90750 chr10 129904851 129904851 G A rs146820874 MKI67 Synonymous SNV S1391S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.49 90751 chr10 16975115 16975115 C T rs201720797 CUBN Nonsynonymous SNV C2032Y 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Likely pathogenic 25.5 90752 chr9 37126850 37126850 A G rs187325042 ZCCHC7 Nonsynonymous SNV E174G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 90753 chr1 21945546 21945546 T G RAP1GAP Nonsynonymous SNV Q77P 0.003 0 0 0 4 0 0 0 0 0 0 0 26.8 90754 chr1 22150690 22150690 G C HSPG2 Nonsynonymous SNV L4276V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 90755 chr9 139747809 139747809 G A rs117670157 MAMDC4 Nonsynonymous SNV R76Q 0.014 0.018 0.007 5 17 7 0.013 2 0 0 0 0 10.85 90756 chr1 22186395 22186395 G C rs370558075 HSPG2 Synonymous SNV P1706P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Uncertain significance 10.13 90757 chr8 2855561 2855561 C G rs952099950 CSMD1 Nonsynonymous SNV Q2783H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 90758 chr10 134021616 134021616 G A rs758633064 STK32C Synonymous SNV P466P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.089 90759 chr9 139908464 139908464 C A rs147917446 ABCA2 Nonsynonymous SNV V1423F 0.014 0.021 0.01 6 17 8 0.015 3 0 0 0 0 Benign 15.41 90760 chr22 38120282 38120282 C T rs368233775 TRIOBP Synonymous SNV D573D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.06 90761 chr9 4662016 4662016 G C rs62543898 SPATA6L Nonsynonymous SNV F20L 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 27.9 90762 chr9 4663124 4663124 G C rs41279553 PLPP6 Nonsynonymous SNV R250T 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 25.8 90763 chr9 139982555 139982555 G A rs753012276 MAN1B1 Nonsynonymous SNV R83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 90764 chr10 134169358 134169358 C A rs553073478 LRRC27 Nonsynonymous SNV L253I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.87 90765 chr1 23111490 23111490 C T rs761772326 EPHB2 Synonymous SNV D244D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.808 90766 chr22 38131368 38131368 C T TRIOBP Synonymous SNV T1675T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 90767 chr9 6014735 6014735 T C rs114777314 RANBP6 Nonsynonymous SNV I291M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.59 90768 chr10 21178792 21178792 G A rs727503337 NEBL Synonymous SNV I80I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 12.25 90769 chr9 140115190 140115190 C T rs199738563 RNF208 Nonsynonymous SNV V159M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 90770 chr22 39222598 39222598 G A rs56034166 NPTXR Synonymous SNV G335G 0.02 0.018 0.041 11 24 7 0.028 12 0 0 0 0 11.07 90771 chr1 41483531 41483531 G A rs139107002 SLFNL1 Nonsynonymous SNV R245C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 90772 chr8 37797467 37797467 A G rs151011886 GOT1L1 Synonymous SNV D27D 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 0.183 90773 chr22 39496417 39496417 G T rs146649681 APOBEC3H Nonsynonymous SNV G45V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 90774 chr11 102575379 102575379 T C rs61754772 MMP27 Nonsynonymous SNV K77R 0.008 0.016 0.007 1 9 6 0.003 2 0 0 0 0 8.502 90775 chr9 140470607 140470607 C T rs139694147 DPH7 Synonymous SNV P100P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.72 90776 chr10 18280214 18280214 T A rs59434947 SLC39A12 Synonymous SNV L334L 0.011 0.021 0.017 8 13 8 0.021 5 0 0 0 0 9.897 90777 chr10 18962987 18962987 C A rs555085648 ARL5B Synonymous SNV I138I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 90778 chr8 48874952 48874952 A G rs34206069 MCM4 Nonsynonymous SNV K163E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Uncertain significance 19.52 90779 chr10 98129994 98129994 G A rs749501321 TLL2 Nonsynonymous SNV P914L 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 26.6 90780 chr22 42059753 42059753 C T rs149724316 XRCC6 Synonymous SNV Y538Y 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 4.947 90781 chr10 15151832 15151832 - T NMT2 Frameshift insertion F449Ifs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 90782 chr10 98307701 98307701 C T rs772268876 TM9SF3 Synonymous SNV T335T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.51 90783 chr9 17309184 17309184 A G rs192917559 CNTLN Synonymous SNV K425K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.076 90784 chr8 55372258 55372258 - CACCAG rs564144826 SOX17 H325_H326insQH 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 90785 chr9 79117556 79117556 C T rs145131054 GCNT1 Nonsynonymous SNV R87W 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 27.4 90786 chr9 18574047 18574047 G A ADAMTSL1 Nonsynonymous SNV G86D 0.001 0 0 0 1 0 0 0 0 0 0 0 26 90787 chr1 26650705 26650705 C T CRYBG2 Nonsynonymous SNV A1559T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.75 90788 chr8 56363872 56363872 A C SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.705 90789 chr9 20715403 20715403 A G rs141452536 FOCAD Synonymous SNV Q17Q 0.003 0 0 0 3 0 0 0 0 0 0 0 6.39 90790 chr8 6263947 6263947 C G rs2243756 LOC100287015 0 0 0.054 0 0 0 0 16 0 0 8 0 7.475 90791 chr9 20944764 20944764 G A rs59290932 FOCAD Synonymous SNV T1182T 0.002 0 0.007 1 2 0 0.003 2 0 0 1 0 Benign 13.94 90792 chr10 99439509 99439509 C T rs141588771 AVPI1 Nonsynonymous SNV E52K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 90793 chr8 6357416 6357416 C T rs199861426 MCPH1 Nonsynonymous SNV P727L 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Uncertain significance 23.8 90794 chr11 108138041 108138041 C T rs587780618 ATM Synonymous SNV N870N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.52 90795 chr9 21481483 21481483 G A rs2039381 IFNE Stop gain Q71X 0.003 0 0.003 0 3 0 0 1 0 0 0 0 33 90796 chr8 6566303 6566303 C T rs148992897 AGPAT5 Synonymous SNV L38L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.35 90797 chr9 21971184 21971184 T G rs201208890 CDKN2A Nonsynonymous SNV S73R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.142 90798 chr9 21974524 21974524 A T rs150447516 CDKN2A Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.572 90799 chr11 111225280 111225280 G A rs576544921 POU2AF1 Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 90800 chr1 28862396 28862396 C T rs145520116 RCC1 Synonymous SNV V225V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.51 90801 chr9 2648747 2648747 C T rs79720897 VLDLR Synonymous SNV L640L 0.018 0 0.02 6 21 0 0.015 6 0 0 0 0 Conflicting interpretations of pathogenicity 15.82 90802 chr10 35897304 35897304 C T rs141883026 GJD4 Nonsynonymous SNV T288M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.628 90803 chr9 27197477 27197477 T C rs755053781 TEK Synonymous SNV L450L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.768 90804 chr11 112131151 112131151 G A rs769057896 PLET1 Synonymous SNV Y54Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 90805 chr1 33117582 33117582 C T rs775795167 RBBP4 Synonymous SNV T27T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.15 90806 chr1 33764617 33764617 C T rs55887741 ZNF362 Synonymous SNV P411P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 11.85 90807 chr11 113856768 113856768 G A rs34327364 HTR3A Synonymous SNV L192L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 6.993 90808 chr1 52704153 52704153 G A rs150425258 ZFYVE9 Nonsynonymous SNV C355Y 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 4.819 90809 chr11 114401278 114401278 C T rs45596232 NXPE1 Nonsynonymous SNV G9D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 90810 chr1 35453651 35453651 A C rs61744853 ZMYM6 Nonsynonymous SNV F1011C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 24.6 90811 chr9 35396880 35396880 G A rs763657356 UNC13B Synonymous SNV E707E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.225 90812 chr1 35824639 35824639 C A rs147284119 ZMYM4 Nonsynonymous SNV L67M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 22.9 90813 chr10 43600584 43600584 C A RET Synonymous SNV P16P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 19.88 90814 chr8 95444663 95444663 A G FSBP Nonsynonymous SNV V199A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 90815 chr1 39877053 39877053 G A rs150760218 KIAA0754 Synonymous SNV V372V 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 2.626 90816 chr22 50682234 50682234 C A rs137934849 TUBGCP6 Nonsynonymous SNV V219L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 90817 chr8 99440558 99440558 C T rs761712983 KCNS2 Synonymous SNV S117S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.009 90818 chr10 3185622 3185622 T G rs201711669 PITRM1 Nonsynonymous SNV E770D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 90819 chr1 40928408 40928408 G A rs116091241 ZFP69B Nonsynonymous SNV R251H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.009 90820 chr1 41232309 41232309 C T rs145113974 NFYC Synonymous SNV A216A 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 19.92 90821 chr9 101806867 101806867 G A rs138283764 COL15A1 Synonymous SNV P864P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.189 90822 chr22 50945467 50945467 G A rs758796122 LMF2 Nonsynonymous SNV T6I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 90823 chrX 110463637 110463637 A G PAK3 Nonsynonymous SNV I533V 0.004 0.005 0 3 5 2 0.008 0 1 1 0 1 2.926 90824 chrX 113961375 113961375 A C rs781909385 HTR2C Synonymous SNV S10S 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.22 90825 chr9 104307123 104307123 T C rs61760889 RNF20 Synonymous SNV L235L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 9.171 90826 chrX 117714102 117714102 C T rs755708340 DOCK11 Nonsynonymous SNV R519C 0.003 0.005 0 8 3 2 0.021 0 0 0 0 3 34 90827 chrX 117959307 117959307 G A rs190906444 ZCCHC12 Nonsynonymous SNV G34S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 90828 chr11 119005003 119005003 G A rs61753080 HINFP Nonsynonymous SNV G244E 0.009 0.008 0 0 10 3 0 0 0 0 0 0 0.774 90829 chr22 51150066 51150066 G C SHANK3 Nonsynonymous SNV E773Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 90830 chrX 118109331 118109331 G A LONRF3 Synonymous SNV G196G 0.003 0.005 0 8 3 2 0.021 0 0 0 0 3 7.794 90831 chr10 48414216 48414216 C T rs142402214 GDF2 Nonsynonymous SNV D218N 0.014 0.008 0 2 16 3 0.005 0 0 0 0 0 Benign 24.4 90832 chr9 105405434 105405434 T C rs10990214 LINC00587 0 0 0.085 0 0 0 0 25 0 0 0 0 1.654 90833 chr1 43055036 43055036 G A rs140323754 CCDC30 Nonsynonymous SNV R422K 0.015 0.031 0.003 5 18 12 0.013 1 0 0 0 0 5.953 90834 chr1 43908654 43908654 G A rs532810601 SZT2 Synonymous SNV T2715T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.904 90835 chr10 50186416 50186416 G A rs369886794 WDFY4 Synonymous SNV P3118P 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 5.758 90836 chr11 102221426 102221426 T C BIRC2 Nonsynonymous SNV S281P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 90837 chr9 113490972 113490972 A C rs12348614 MUSK Nonsynonymous SNV E211D 0.012 0.016 0.014 1 14 6 0.003 4 0 0 0 0 19.62 90838 chr9 77275609 77275609 G A rs138739090 RORB Synonymous SNV A249A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.13 90839 chrX 140714248 140714248 C T rs186695103 LOC645188 Synonymous SNV T59T 0.009 0 0 1 10 0 0.003 0 3 0 0 0 5.887 90840 chr9 116060347 116060347 A C rs180833376 RNF183 Nonsynonymous SNV C40G 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 24.8 90841 chr10 56089381 56089381 C T rs766401854 PCDH15 Nonsynonymous SNV R205H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 90842 chr11 123900727 123900727 G A rs768073638 OR10G8 Nonsynonymous SNV S133N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.102 90843 chrX 36018507 36018507 C T rs762310919 CFAP47 Synonymous SNV D1095D 0.008 0.008 0 4 9 3 0.01 0 1 1 0 1 13.72 90844 chr9 80343554 80343554 A G rs144682617 GNAQ Synonymous SNV F255F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.828 90845 chr11 10647880 10647880 A C rs200197925 MRVI1 Nonsynonymous SNV L19R 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 18.74 90846 chrX 40542212 40542212 T C rs12558065 MED14 Synonymous SNV Q698Q 0.009 0.036 0.014 9 10 14 0.023 4 4 4 2 3 0.19 90847 chrX 41201883 41201883 C T rs753917028 DDX3X Synonymous SNV L124L 0.002 0.005 0 3 2 2 0.008 0 1 1 0 1 13.63 90848 chr1 48705128 48705128 C T rs748567609 SLC5A9 Synonymous SNV Y532Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.494 90849 chr10 6274873 6274873 C T rs757123518 PFKFB3 Nonsynonymous SNV R491W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 90850 chr9 119160791 119160791 T C rs3810939 PAPPA-AS1 0 0 0.286 0 0 0 0 84 0 0 12 0 4.961 90851 chr9 88938206 88938206 G A TUT7 Nonsynonymous SNV T697I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 90852 chr1 77748045 77748045 C T AK5 Nonsynonymous SNV P16L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 90853 chr10 70922234 70922234 G A rs754771578 VPS26A Synonymous SNV E97E 0.004 0 0 0 5 0 0 0 0 0 0 0 10.53 90854 chr9 90252966 90252966 C T rs55800264 DAPK1 Synonymous SNV H131H 0.013 0.005 0.02 7 15 2 0.018 6 0 0 0 0 12.8 90855 chr9 90345360 90345360 C T rs190277186 CTSL Synonymous SNV Y101Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.641 90856 chr9 123301414 123301414 C T rs61756286 CDK5RAP2 Nonsynonymous SNV G138S 0.004 0.01 0.01 2 5 4 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 90857 chr9 90500708 90500708 C T rs150988108 SPATA31E1 Nonsynonymous SNV R436C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.921 90858 chr11 124619666 124619666 G A rs774788113 VSIG2 Nonsynonymous SNV P175L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 90859 chr11 124748196 124748196 G A rs111277969 ROBO3 Nonsynonymous SNV A111T 0.022 0.026 0.02 7 26 10 0.018 6 0 0 0 0 Benign 17.98 90860 chr10 5497033 5497033 G A rs200435671 NET1 Synonymous SNV A329A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.846 90861 chr11 124757029 124757029 G A rs146276743 ROBO4 Nonsynonymous SNV P615L 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 17.35 90862 chr9 124044995 124044995 C T rs3810942 GSN-AS1 0 0 0.16 0 0 0 0 47 0 0 21 0 8.429 90863 chr9 124519406 124519406 C G rs35510547 DAB2IP Synonymous SNV P35P 0.032 0.034 0.024 11 38 13 0.028 7 0 1 1 0 13.91 90864 chr9 125273435 125273435 G A rs41277120 OR1J2 Nonsynonymous SNV A119T 0.006 0.01 0.024 1 7 4 0.003 7 0 0 0 0 24.4 90865 chr11 1093104 1093104 C A rs886821899 MUC2 Synonymous SNV T1641T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 90866 chr11 1093105 1093105 C G rs1004827224 MUC2 Nonsynonymous SNV P1642A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 90867 chr9 125288893 125288893 C T rs58226717 OR1N1 Nonsynonymous SNV R227Q 0.006 0.01 0.024 1 7 4 0.003 7 0 0 0 0 14.95 90868 chr11 1093469 1093537 AGACCCCAACCACGGTACTCATCACCACCACCACTACGATGACCCCAACCCCAACACCCACCAGCACAA - MUC2 T1764_K1786del 0.001 0 0 0 1 0 0 0 0 0 0 0 90869 chrX 70887765 70887765 G A rs187786114 LOC101059915 Nonsynonymous SNV G38S 0.03 0.036 0 13 35 14 0.033 0 7 6 0 3 5.563 90870 chr11 1093572 1093572 T C rs112534262 MUC2 Synonymous SNV T1797T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.03 90871 chr9 125316157 125316157 C T rs41316976 OR1N2 Nonsynonymous SNV R223C 0.006 0.008 0.024 1 7 3 0.003 7 0 0 0 0 19.53 90872 chr11 1094761 1094761 C A rs41376152 MUC2 Nonsynonymous SNV T1950N 0.015 0.026 0.007 3 18 10 0.008 2 0 0 0 0 0.077 90873 chr10 70940191 70940191 C T rs2292192 SUPV3L1 Synonymous SNV A48A 0.018 0.016 0.034 5 21 6 0.013 10 1 0 0 0 10.91 90874 chr1 55072856 55072856 G A rs138724698 ACOT11 Nonsynonymous SNV V474I 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 16.55 90875 chrX 24197433 24197433 C A rs45445095 ZFX Synonymous SNV I64I 0.013 0 0.01 3 15 0 0.008 3 5 0 1 0 Benign 15.42 90876 chr10 64415355 64415355 A T ZNF365 Nonsynonymous SNV I119F 0.003 0 0 0 3 0 0 0 0 0 0 0 3.789 90877 chr10 71874784 71874784 C T rs2271694 AIFM2 Nonsynonymous SNV D288N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.752 90878 chr11 112040041 112040041 C G rs148810701 TEX12 Nonsynonymous SNV P17R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22 90879 chr10 70531018 70531018 G A rs984528553 CCAR1 Nonsynonymous SNV R770H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 90880 chr10 73822855 73822855 C T rs2306322 SPOCK2 Nonsynonymous SNV G353S 0.013 0.003 0.01 1 15 1 0.003 3 0 0 0 0 Benign 34 90881 chr9 127119356 127119356 T G rs912353 LOC100129034 0 0 0.262 0 0 0 0 77 0 0 33 0 3.162 90882 chrX 105189958 105189958 T C rs200616257 NRK Nonsynonymous SNV V1385A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.76 90883 chr11 126160814 126160814 G C rs8177369 TIRAP Nonsynonymous SNV A9P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.3 90884 chr10 75888955 75888955 C T rs11000881 AP3M1 Synonymous SNV R238R 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 16.26 90885 chr1 91177916 91177916 G A rs781063052 BARHL2 Nonsynonymous SNV L373F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 90886 chr11 126306758 126306758 C G rs186782738 KIRREL3 Synonymous SNV T500T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.23 90887 chrX 38182665 38182665 A C rs62638631 RPGR Synonymous SNV S47S 0.008 0.008 0 2 9 3 0.005 0 2 0 0 0 Benign/Likely benign 0.033 90888 chr9 130289485 130289485 G A rs75835777 NIBAN2 Synonymous SNV Y88Y 0.007 0.003 0.02 4 8 1 0.01 6 0 0 0 0 1.084 90889 chr9 130476398 130476398 C T rs767993669 PTRH1 Nonsynonymous SNV G209E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.429 90890 chr10 79581251 79581251 A C rs144503327 DLG5 Synonymous SNV P997P 0.014 0.003 0.003 2 16 1 0.005 1 0 0 0 0 Benign 0.004 90891 chrX 47307172 47307172 G A rs144970008 ZNF41 Nonsynonymous SNV A580V 0.001 0 0.007 5 1 0 0.013 2 0 0 0 1 Benign 22.9 90892 chr10 79745735 79745735 C A rs12241228 POLR3A Synonymous SNV V999V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 18.2 90893 chr10 79799959 79799959 C A rs7899453 RPS24 Nonsynonymous SNV Q131K 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Benign 13.02 90894 chrX 117527050 117527050 C T rs142152686 WDR44 Synonymous SNV P189P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 90895 chr1 93988997 93988997 G A rs61752467 FNBP1L Synonymous SNV V97V 0.009 0.005 0.003 7 11 2 0.018 1 0 0 0 0 3.975 90896 chr10 75185773 75185773 T C rs373551766 MSS51 Nonsynonymous SNV M289V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.2 90897 chrX 132091243 132091243 G A rs374009688 HS6ST2 Synonymous SNV L180L 0.002 0.005 0 0 2 2 0 0 1 1 0 0 7.769 90898 chrX 118220942 118220942 G T KIAA1210 Nonsynonymous SNV N1417K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 90899 chr10 75849788 75849788 T C VCL Nonsynonymous SNV L395P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.1 90900 chr10 82036199 82036199 T C MAT1A Nonsynonymous SNV K234R 0.006 0 0 0 7 0 0 0 0 0 0 0 16.13 90901 chrX 49126656 49126656 C T rs111505885 PPP1R3F Synonymous SNV P108P 0.038 0.036 0.02 25 45 14 0.064 6 13 4 2 8 12.01 90902 chr11 118184576 118184576 C T rs2231447 CD3E Synonymous SNV G169G 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Benign/Likely benign 12.55 90903 chrX 55185636 55185636 C T FAM104B Nonsynonymous SNV E16K 0.003 0.008 0.007 2 3 3 0.005 2 0 0 1 0 24.1 90904 chrX 12735862 12735862 G C rs200249861 FRMPD4 Nonsynonymous SNV A933P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 90905 chr10 79590510 79590510 C G rs77492655 DLG5 Nonsynonymous SNV E624Q 0.013 0.003 0.007 5 15 1 0.013 2 0 0 0 0 Benign 25.4 90906 chr9 131585086 131585086 G C rs35677895 SPOUT1 Synonymous SNV A363A 0.014 0.013 0.024 5 17 5 0.013 7 0 0 0 0 10.14 90907 chrX 128888499 128888499 G A rs746492710 XPNPEP2 Nonsynonymous SNV V387M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 90908 chr10 73558133 73558133 G C rs56013867 CDH23 Synonymous SNV L44L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.972 90909 chr1 100606023 100606023 A G rs149250065 TRMT13 Nonsynonymous SNV N152D 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 12.56 90910 chr1 101005560 101005560 C A GPR88 Synonymous SNV S346S 0.001 0.003 0 7 1 1 0.018 0 0 0 0 0 19.81 90911 chrX 152935987 152935987 G A rs56246355 PNCK Synonymous SNV G402G 0.004 0 0 1 5 0 0.003 0 2 0 0 0 Benign 6.601 90912 chr9 132662722 132662722 G A rs41279168 FNBP1 Synonymous SNV C482C 0.02 0.021 0.007 2 24 8 0.005 2 0 0 0 0 5.613 90913 chr9 133729620 133729620 T G rs111886835 ABL1 Synonymous SNV T83T 0.007 0.003 0.027 2 8 1 0.005 8 1 0 0 0 Benign 12.43 90914 chr9 133760106 133760106 C T rs2229071 ABL1 Nonsynonymous SNV P810L 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 Benign 23.7 90915 chr9 133760380 133760380 C G rs56017837 ABL1 Synonymous SNV P901P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 10.41 90916 chr11 17632821 17632821 A G OTOG Nonsynonymous SNV T2004A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 90917 chr11 18028205 18028205 G T rs139679803 SERGEF Stop gain C95X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 37 90918 chr11 121028685 121028685 A G rs201946991 TECTA Nonsynonymous SNV S1481G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.8 90919 chrX 138643954 138643954 G A rs34698779 F9 Synonymous SNV Q332Q 0.001 0 0 2 1 0 0.005 0 0 0 0 1 Benign/Likely benign 0.023 90920 chrX 71838564 71838564 T C rs140721100 PHKA1 Nonsynonymous SNV M730V 0.005 0 0 4 6 0 0.01 0 2 0 0 1 12.41 90921 chr10 93390387 93390387 C T rs549452692 PPP1R3C Nonsynonymous SNV R84H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 90922 chr11 122817311 122817311 C T rs746497726 JHY Synonymous SNV D542D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 90923 chr9 134431467 134431467 C T rs181151988 PRRT1B Nonsynonymous SNV P175L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 90924 chr9 134501613 134501613 C T rs36041012 RAPGEF1 Synonymous SNV Q466Q 0.013 0.026 0.024 3 15 10 0.008 7 0 0 0 0 9.814 90925 chr1 109812047 109812047 G A rs753874270 CELSR2 Nonsynonymous SNV V2272I 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.3 90926 chr1 109839675 109839675 G A rs145383997 MYBPHL Synonymous SNV S189S 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 12.6 90927 chrX 9864516 9864516 C T rs371590825 SHROOM2 Synonymous SNV S856S 0.003 0.008 0 3 4 3 0.008 0 1 1 0 1 11.02 90928 chr1 110466119 110466119 G A rs12721513 CSF1 Synonymous SNV E292E 0.01 0.008 0.003 7 12 3 0.018 1 0 0 0 0 Benign 4.873 90929 chr1 110466202 110466202 G T rs199950075 CSF1 Nonsynonymous SNV G320V 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 23.1 90930 chr1 110466265 110466265 G A rs12565736 CSF1 Nonsynonymous SNV S341N 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 8.973 90931 chr10 89501072 89501072 C T rs145242127 PAPSS2 Synonymous SNV D384D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.16 90932 chr11 20178078 20178078 G A DBX1 Synonymous SNV N238N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 90933 chrX 152815014 152815014 C T rs145661591 ATP2B3 Synonymous SNV N466N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 90934 chr9 137541413 137541413 T C rs12554943 COL5A1-AS1 0 0 0.082 0 0 0 0 24 0 0 0 0 3.433 90935 chr11 2190948 2190948 G C TH Nonsynonymous SNV L82V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.688 90936 chr1 111862042 111862042 T C rs36011905 CHIA Nonsynonymous SNV F216L 0.019 0.023 0.031 10 22 9 0.026 9 0 0 0 0 24.1 90937 chr9 138664787 138664787 C T rs146810749 KCNT1 Synonymous SNV S700S 0.006 0.005 0.017 3 7 2 0.008 5 0 0 0 0 Benign/Likely benign 10.73 90938 chr9 138837034 138837034 G A rs144479483 UBAC1 Nonsynonymous SNV T239M 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 10.25 90939 chr10 104184086 104184086 G A rs199625253 CUEDC2 Nonsynonymous SNV R116W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.39 90940 chr9 139620311 139620311 A G rs4880136 SNHG7 0 0 0.014 0 0 0 0 4 0 0 2 0 1.133 90941 chr11 1247969 1247969 C T rs56168747 MUC5B Synonymous SNV R108R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 13.55 90942 chr10 97096734 97096734 G A rs117778203 SORBS1 Synonymous SNV T1061T 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.032 90943 chr10 99344669 99344669 G A rs267606763 HOGA1 Nonsynonymous SNV R70Q 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 23.2 90944 chr11 12539180 12539180 G A rs145545501 PARVA Synonymous SNV V297V 0.014 0.01 0.014 8 16 4 0.021 4 0 0 0 0 12.34 90945 chr9 139864438 139864438 G C rs12351283 LINC02692 0 0 0.184 0 0 0 0 54 0 0 11 0 2.135 90946 chr10 98715027 98715027 A G LCOR Nonsynonymous SNV N217S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 90947 chr10 98744261 98744261 C T rs537292176 LCOR Synonymous SNV S1348S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.678 90948 chr1 118166259 118166259 C T TENT5C Nonsynonymous SNV P257S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.9 90949 chrX 32364189 32364189 G T DMD Nonsynonymous SNV D478E 0.004 0 0 1 5 0 0.003 0 1 0 0 0 17.73 90950 chrX 32482710 32482710 T A rs747239076 DMD Nonsynonymous SNV Q1082L 0.006 0 0 1 7 0 0.003 0 2 0 0 0 Conflicting interpretations of pathogenicity 25 90951 chr10 111890215 111890215 C T rs183309874 ADD3 Nonsynonymous SNV T568I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 90952 chr11 31811462 31811462 T - PAX6 K244Rfs*29 0.017 0.013 0 4 20 5 0.01 0 0 0 0 0 90953 chrX 36089996 36089996 A T rs144780406 CFAP47 Nonsynonymous SNV D1458V 0.007 0.003 0 0 8 1 0 0 2 0 0 0 9.53 90954 chr11 125880519 125880519 A G rs764247618 CDON Synonymous SNV T423T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.24 90955 chr10 116056779 116056779 C T rs62641713 AFAP1L2 Synonymous SNV S713S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 17.41 90956 chr11 1009802 1009802 G A rs143171131 AP2A2 Synonymous SNV P910P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.91 90957 chr9 140510087 140510087 T - ARRDC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 90958 chr9 140611120 140611120 C G rs79514677 EHMT1 Nonsynonymous SNV A12G 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign 9.69 90959 chr9 140611121 140611121 A T rs76684726 EHMT1 Synonymous SNV A12A 0.011 0.013 0.01 1 13 5 0.003 3 0 0 0 0 Benign 2.49 90960 chr9 140707889 140707889 G A rs11137244 EHMT1 Synonymous SNV V1022V 0.01 0.013 0.01 1 12 5 0.003 3 0 0 0 0 Benign 8.17 90961 chr9 140786516 140786516 C T rs12004975 LOC100133077 0 0 0.024 0 0 0 0 7 0 0 2 0 8.728 90962 chr9 140786918 140786918 T C rs4076712 LOC100133077 0 0 0.238 0 0 0 0 70 0 0 16 0 0.101 90963 chr11 1271626 1271626 G A MUC5B Nonsynonymous SNV A4506T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.198 90964 chrX 47446041 47446041 G A rs149986790 TIMP1 Nonsynonymous SNV R192Q 0.008 0.005 0 2 9 2 0.005 0 2 0 0 0 Benign 18.54 90965 chr10 118101556 118101559 AAAG - rs777108726 CCDC172 K98Nfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 90966 chr11 3700876 3700876 C T rs34446357 NUP98 Nonsynonymous SNV E1614K 0.014 0.003 0.007 6 16 1 0.015 2 0 0 0 0 29.8 90967 chrX 48762116 48762116 C G SLC35A2 Nonsynonymous SNV G296A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 90968 chr9 17786422 17786422 C T rs145027036 SH3GL2 Synonymous SNV I77I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.94 90969 chrX 49082499 49082499 C T rs34162630 CACNA1F Nonsynonymous SNV R508Q 0.029 0.018 0.017 4 34 7 0.01 5 8 2 1 1 Benign/Likely benign 33 90970 chr1 150975161 150975161 G A rs748972996 MINDY1 Nonsynonymous SNV A26V 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 12.29 90971 chr10 118351309 118351309 G C rs782526462 PNLIPRP1 Nonsynonymous SNV G26R 0 0 0 1 0 0 0.003 0 0 0 0 0 32 90972 chrX 54783952 54783952 A G rs150850201 ITIH6 Nonsynonymous SNV I852T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.105 90973 chrX 54836334 54836334 T C rs144346983 MAGED2 Synonymous SNV A75A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.102 90974 chr1 111773557 111773557 C T rs146994563 CHI3L2 Synonymous SNV L78L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Likely benign 7.493 90975 chrX 54837277 54837277 G C rs12014977 MAGED2 Nonsynonymous SNV E187D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.63 90976 chrX 55033307 55033307 T C rs11541054 APEX2 Synonymous SNV F161F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.345 90977 chrX 63410516 63410516 G A rs201092215 AMER1 Nonsynonymous SNV P884L 0.004 0.005 0.007 1 5 2 0.003 2 0 1 1 0 Benign/Likely benign 20.5 90978 chr9 2718822 2718822 A G rs142744007 KCNV2 Synonymous SNV Q361Q 0.02 0.023 0.017 4 23 9 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 90979 chrX 69606492 69606492 C T rs10127080 KIF4A Synonymous SNV L687L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 15.16 90980 chr9 33318937 33318937 C T rs141333079 NFX1 Nonsynonymous SNV S573L 0 0 0.01 0 0 0 0 3 0 0 0 0 23.6 90981 chr10 122633421 122633421 C T rs12355108 WDR11 Synonymous SNV H514H 0.008 0.01 0.02 5 9 4 0.013 6 0 0 0 0 12.73 90982 chrX 69652903 69652903 G A rs35940902 GDPD2 Synonymous SNV L450L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.606 90983 chrX 69825271 69825271 C T rs140984555 TEX11 Nonsynonymous SNV A683T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Pathogenic 27.6 90984 chr11 14666181 14666181 A C rs772431335 PDE3B Nonsynonymous SNV H187P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.153 90985 chr9 36357896 36357896 A G RNF38 Nonsynonymous SNV V155A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 90986 chr1 118644414 118644414 T G rs147280829 SPAG17 Nonsynonymous SNV T195P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.35 90987 chr10 126172895 126172895 G A rs35603272 LHPP Nonsynonymous SNV G105R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.52 90988 chr10 127542720 127542720 T G rs35772239 DHX32 Nonsynonymous SNV D301A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 18.03 90989 chr10 127548376 127548376 A T rs61757590 DHX32 Synonymous SNV I215I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.818 90990 chr10 126517991 126517991 T A ABRAXAS2 Nonsynonymous SNV M203K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29.8 90991 chr10 127693470 127693470 A G rs36096032 FANK1 Nonsynonymous SNV Y180C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.4 90992 chr1 119925645 119925645 T A rs41306185 HAO2 Nonsynonymous SNV F80Y 0.014 0.01 0 2 16 4 0.005 0 0 0 0 0 25.1 90993 chr10 126715468 126715468 C T rs45440394 CTBP2 Synonymous SNV R287R 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 7.223 90994 chrX 92965140 92965140 C G rs756422345 FAM133A Nonsynonymous SNV S241C 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 90995 chr11 17575063 17575063 C T OTOG Synonymous SNV I191I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.5 90996 chr11 10536589 10536589 A C rs199671583 RNF141 Synonymous SNV P189P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.155 90997 chr11 1019331 1019331 G C rs150915397 MUC6 Nonsynonymous SNV T1325R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.015 90998 chr11 103908233 103908233 A C rs143468518 DDI1 Nonsynonymous SNV N228T 0.004 0 0.007 5 5 0 0.013 2 0 0 0 0 0.307 90999 chr11 17632055 17632055 G A OTOG Synonymous SNV S1748S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 7.703 91000 chr11 102221100 102221100 C T rs369921460 BIRC2 Nonsynonymous SNV S172L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.004 91001 chr1 155026654 155026654 G A rs143334205 ADAM15 Nonsynonymous SNV R134Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.01 91002 chr11 104825640 104825640 T G CASP4 Nonsynonymous SNV Q32H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 91003 chr1 155171294 155171294 C T rs147969850 THBS3 Nonsynonymous SNV A295T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 19.42 91004 chr1 155295025 155295025 G C rs146326650 RUSC1 Synonymous SNV G9G 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 0.141 91005 chr10 129914787 129914787 C T rs41306644 MKI67 Nonsynonymous SNV R123H 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 Benign 25.8 91006 chr1 155447818 155447818 T C rs151028549 ASH1L Nonsynonymous SNV R1615G 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 24.7 91007 chr1 155629969 155629969 T C rs368975948 YY1AP1 Nonsynonymous SNV N567D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 91008 chr11 108384440 108384440 T C rs201887546 EXPH5 Synonymous SNV V410V 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 0.306 91009 chr1 147083650 147083650 C T rs41299583 BCL9 Synonymous SNV N5N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.22 91010 chr10 133795376 133795376 G A rs572410005 BNIP3 Nonsynonymous SNV P44S 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 7.951 91011 chr10 103900069 103900069 G C PPRC1 Nonsynonymous SNV A602P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.021 91012 chr1 156702211 156702211 A G rs201972658 RRNAD1 Synonymous SNV P125P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 7.488 91013 chr1 152082398 152082398 C T TCHH Nonsynonymous SNV E1099K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 91014 chr9 79999509 79999509 A G rs117258674 VPS13A Synonymous SNV Q3066Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 91015 chr11 48387824 48387824 A G rs780053186 OR4C5 Nonsynonymous SNV I65T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 91016 chr10 16932384 16932384 G A rs45551835 CUBN Nonsynonymous SNV A2914V 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 34 91017 chr11 2191997 2191997 C T rs376736869 TH Nonsynonymous SNV A36T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.463 91018 chr10 1421326 1421326 C T rs3793733 ADARB2 Nonsynonymous SNV A44T 0.017 0.021 0.01 17 20 8 0.044 3 0 0 0 1 20.3 91019 chr1 157069134 157069134 G A rs61730132 ETV3L Nonsynonymous SNV S32L 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 24.5 91020 chr11 116661451 116661451 C G APOA5 Nonsynonymous SNV G165A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.2 91021 chr9 94398581 94398581 T C rs67339585 MIR3910-1, MIR3910-2 0 0 0.082 0 0 0 0 24 0 0 5 0 1.295 91022 chr10 108339116 108339116 G C rs41310306 SORCS1 Nonsynonymous SNV L1128V 0.01 0.016 0.007 8 12 6 0.021 2 0 0 0 0 7.043 91023 chr1 158532460 158532460 G A rs41273495 OR6P1 Nonsynonymous SNV P312L 0.004 0.003 0.01 4 5 1 0.01 3 0 0 0 0 6.259 91024 chr9 95599798 95599798 C A rs144558728 ANKRD19P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.054 91025 chr1 154401858 154401858 C T rs145766309 IL6R Nonsynonymous SNV S91F 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 24.8 91026 chr11 118038894 118038894 C T rs752863331 SCN2B Synonymous SNV Q118Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 6.242 91027 chr9 99212876 99212876 G T rs745766186 HABP4 Synonymous SNV R105R 0 0 0.007 0 0 0 0 2 0 0 0 0 4.375 91028 chrM 3198 3198 T C RNR2 0 0 0.044 0 0 0 0 13 0 0 6 0 91029 chrUn_gl000220 118418 118419 CG - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.014 0 0 0 0 4 0 0 0 0 91030 chrUn_gl000220 122116 122116 - C LOC100507412 0 0 0.024 0 0 0 0 7 0 0 0 0 91031 chrUn_gl000220 122126 122126 C A LOC100507412 0 0 0.204 0 0 0 0 60 0 0 0 0 91032 chrUn_gl000220 122141 122141 G C LOC100507412 0 0 0.017 0 0 0 0 5 0 0 0 0 91033 chr11 116661001 116661001 G A rs143292359 APOA5 Nonsynonymous SNV A315V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 28 91034 chr11 118404810 118404810 C T rs782257019 TMEM25 Synonymous SNV N153N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.03 91035 chrX 104464342 104464342 T A rs41312550 TEX13A Nonsynonymous SNV E179V 0.015 0.01 0.034 8 18 4 0.021 10 3 1 4 2 16.87 91036 chr1 155630245 155630245 T C rs185936522 YY1AP1 Nonsynonymous SNV M475V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.002 91037 chr1 159175543 159175543 G A rs200089772 ACKR1 Nonsynonymous SNV G107D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 27.5 91038 chr11 118963832 118963832 C T rs746707121 HMBS Nonsynonymous SNV P269S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.6 91039 chr1 159277689 159277689 C A rs41264475 FCER1A Nonsynonymous SNV N247K 0.009 0 0.003 4 10 0 0.01 1 0 0 0 0 Benign 8.539 91040 chr10 115922406 115922406 T C rs377384670 CCDC186 Nonsynonymous SNV I208V 0.003 0 0 0 4 0 0 0 0 0 0 0 9.294 91041 chr10 29169338 29169338 A C rs553042383 C10orf126 Nonsynonymous SNV Q161P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.017 91042 chrX 111145404 111145404 A G TRPC5OS Synonymous SNV T109T 0 0 0.007 0 0 0 0 2 0 0 1 0 2.04 91043 chr11 32954693 32954693 A C rs200945717 QSER1 Nonsynonymous SNV N630T 0.011 0 0 5 13 0 0.013 0 0 0 0 0 6.465 91044 chr11 118376925 118376925 A G rs117099452 KMT2A Nonsynonymous SNV I3440V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 0.002 91045 chr11 118402975 118402975 C T rs782764269 TMEM25 Nonsynonymous SNV P61S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 91046 chr11 118498513 118498513 C T PHLDB1 Nonsynonymous SNV P325L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 91047 chrX 118602222 118602222 G C rs62599439 SLC25A5-AS1 0 0 0.119 0 0 0 0 35 0 0 13 0 6.954 91048 chrX 127185763 127185763 C T rs368012475 ACTRT1 Synonymous SNV A141A 0 0 0.01 0 0 0 0 3 0 0 1 0 9.073 91049 chr10 30602705 30602705 C T MTPAP Nonsynonymous SNV V528I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 91050 chr1 156639324 156639324 T G rs145578225 NES Synonymous SNV G1552G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 6.375 91051 chr11 120352001 120352001 G T ARHGEF12 Nonsynonymous SNV V1405L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 91052 chr1 161683116 161683116 G A rs61741808 FCRLA Synonymous SNV L107L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 11.37 91053 chr1 161693378 161693378 G A rs147870526 FCRLB Nonsynonymous SNV V85I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 91054 chr1 161722204 161722204 C T rs1063179 DUSP12 Synonymous SNV T208T 0.028 0.034 0.031 9 33 13 0.023 9 1 0 0 0 5.613 91055 chr1 161821608 161821608 C T rs1135984 ATF6 Synonymous SNV N472N 0.003 0 0 6 3 0 0.015 0 0 0 0 0 Benign 11.2 91056 chr1 161967990 161967990 G A rs77628593 OLFML2B Nonsynonymous SNV R368W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.63 91057 chr11 12246279 12246279 C G MICAL2 Nonsynonymous SNV Q534E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.13 91058 chr1 161968042 161968042 A G rs115147843 OLFML2B Synonymous SNV P350P 0.001 0 0 8 1 0 0.021 0 0 0 0 0 Benign 0.2 91059 chr1 161968049 161968049 C T rs76125299 OLFML2B Nonsynonymous SNV R348Q 0.001 0 0 8 1 0 0.021 0 0 0 0 0 0.277 91060 chrX 138678744 138678744 G A rs2235708 MCF2 Synonymous SNV D708D 0.012 0.013 0.007 5 14 5 0.013 2 3 1 1 1 1.273 91061 chr10 32197760 32197760 C T rs140446285 ARHGAP12 Synonymous SNV G8G 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 9.686 91062 chrX 140993981 140994085 CCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC - MAGEC1 S267_S301del 0.007 0.005 0.014 0 8 2 0 4 1 1 2 0 91063 chr11 120531072 120531072 C T rs142433514 GRIK4 Synonymous SNV L15L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.36 91064 chr10 122649484 122649484 T G rs747083795 WDR11 Nonsynonymous SNV M769R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 24.7 91065 chrX 146993715 146993715 G T rs111485627 FMR1 Synonymous SNV V6V 0.001 0.005 0.01 1 1 2 0.003 3 0 1 1 0 Benign 11.46 91066 chrX 148797426 148797426 A C rs147749342 MAGEA11 Nonsynonymous SNV I65L 0.007 0.013 0.017 1 8 5 0.003 5 0 1 2 0 12.06 91067 chr1 167096615 167096615 G A rs140729613 DUSP27 Synonymous SNV P749P 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 0.123 91068 chr11 123756132 123756132 T C rs115828609 TMEM225 Star tloss M1? 0.003 0.008 0.014 0 4 3 0 4 0 0 0 0 7.607 91069 chrX 20252889 20252889 A C rs56218010 RPS6KA3 Nonsynonymous SNV I38S 0.012 0.005 0.027 8 14 2 0.021 8 5 1 4 3 Benign 11.01 91070 chrX 21674920 21674922 CTC - rs781372684 KLHL34 E329del 0 0 0.007 0 0 0 0 2 0 0 1 0 91071 chr11 47236746 47236746 G A rs373622283 DDB2 Nonsynonymous SNV R20K 0.006 0 0.003 0 7 0 0 1 0 0 0 0 Uncertain significance 1.381 91072 chr11 124519664 124519664 G A rs77575510 SIAE Synonymous SNV Y191Y 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 8.873 91073 chr11 47307093 47307093 G A rs760678538 MADD Nonsynonymous SNV V792I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.64 91074 chr1 160523909 160523910 TG - CD84 Q25Efs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 91075 chrX 47519504 47519504 - CCTTCCTTCCTT rs61032756 UXT-AS1 0 0 0.099 0 0 0 0 29 0 0 11 0 91076 chrX 47837061 47837061 T C ZNF182 Nonsynonymous SNV N123S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 91077 chr1 162729679 162729679 C T rs375604173 DDR2 Synonymous SNV D255D 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 11.66 91078 chr10 133795450 133795450 C G rs1048127340 BNIP3 Nonsynonymous SNV R19P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.651 91079 chr1 176708785 176708785 G A rs41266138 PAPPA2 Synonymous SNV E1274E 0.009 0.003 0.024 4 10 1 0.01 7 0 0 0 0 3.917 91080 chrX 70886652 70886652 T C rs6525496 LOC100129291 0 0 0.041 0 0 0 0 12 0 0 6 0 0.705 91081 chr10 50594628 50594628 C T rs192582282 DRGX Nonsynonymous SNV R141Q 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 25.5 91082 chr11 126144895 126144895 - GAGT rs398124308 FOXRED1 Frameshift insertion A206Sfs*15 0.003 0.003 0 0 3 1 0 0 0 0 0 0 91083 chrX 7194089 7194089 G A rs113416414 STS Nonsynonymous SNV V302I 0.003 0 0.007 0 4 0 0 2 2 0 1 0 0.012 91084 chrX 73063911 73063911 T C rs41307246 XIST 0 0 0.102 0 0 0 0 30 0 0 10 0 3.645 91085 chr11 126174173 126174173 G T rs779527835 DCPS Synonymous SNV G66G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.23 91086 chr11 130771713 130771713 - G rs11398669 SNX19 Stop gain E868* 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 91087 chr1 168670348 168670348 T C rs777651623 DPT Nonsynonymous SNV Y149C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.1 91088 chr11 126314880 126314880 C T rs771036286 KIRREL3 Nonsynonymous SNV V416I 0.006 0 0 0 7 0 0 0 0 0 0 0 23.3 91089 chrX 92927299 92927299 G C rs142723651 NAP1L3 Synonymous SNV P335P 0 0 0.01 0 0 0 0 3 0 0 1 0 0.423 91090 chrX 9905379 9905379 C T rs756186985 SHROOM2 Nonsynonymous SNV R100W 0 0 0.007 0 0 0 0 2 0 0 1 0 24.9 91091 chr10 134691427 134691427 - TCCTTCTCTTTACTCCTCTCATTC rs752660068 CFAP46 K1389_D1390insENERSKEK 0.022 0.023 0.003 15 26 9 0.038 1 6 1 0 2 91092 chr11 1262189 1262189 C T rs12363494 MUC5B Nonsynonymous SNV T1360M 0.02 0.013 0.01 6 24 5 0.015 3 0 0 0 0 10.7 91093 chr11 130289071 130289071 G A rs200985372 ADAMTS8 Synonymous SNV G279G 0.008 0.008 0.01 0 9 3 0 3 0 0 0 0 9.375 91094 chr10 55779974 55779974 G A rs749702003 PCDH15 Nonsynonymous SNV A839V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 91095 chr10 101439159 101439159 C G ENTPD7 Nonsynonymous SNV D111E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.91 91096 chr11 56380695 56380695 G T OR5M1 Nonsynonymous SNV A95D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 91097 chr11 132204951 132204951 G A rs61746413 NTM Nonsynonymous SNV V316I 0.02 0.016 0.003 3 24 6 0.008 1 0 0 0 0 1.239 91098 chr11 134131650 134131650 G A rs200620279 ACAD8 Nonsynonymous SNV A320T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 91099 chr1 171527237 171527237 A G rs148813704 PRRC2C Nonsynonymous SNV N1994D 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 24.5 91100 chr11 130130758 130130758 G A rs202193079 ZBTB44 Synonymous SNV S337S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.037 91101 chr10 105110774 105110774 G C rs571651624 PCGF6 Nonsynonymous SNV T17S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 91102 chr11 16810822 16810822 G A rs143911467 PLEKHA7 Nonsynonymous SNV R1060C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 91103 chr10 1405402 1405402 C T rs191180422 ADARB2 Nonsynonymous SNV E300K 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign 21.9 91104 chr11 18763898 18763898 G A rs111579099 PTPN5 Synonymous SNV P188P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 9.168 91105 chr1 192627431 192627431 G A rs41300867 RGS13 Synonymous SNV R76R 0.012 0.01 0.014 14 14 4 0.036 4 1 0 0 2 6.132 91106 chr1 193045158 193045158 A G rs776423964 RO60 Synonymous SNV L263L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.109 91107 chr11 17578774 17578774 G A rs61978648 OTOG Nonsynonymous SNV V269I 0.005 0 0.014 6 6 0 0.015 4 0 0 0 0 Benign 15.95 91108 chr11 57094310 57094310 G C SSRP1 Nonsynonymous SNV T642R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 91109 chr11 17632921 17632921 C T rs61736002 OTOG Nonsynonymous SNV A2037V 0.002 0 0.003 6 2 0 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.487 91110 chr11 57155253 57155253 C A rs149828052 PRG2 Nonsynonymous SNV G184V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24 91111 chr10 70550991 70550991 C A rs201223388 CCAR1 Nonsynonymous SNV Q1126K 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 18.89 91112 chr1 179631255 179631255 G A rs200481148 TDRD5 Nonsynonymous SNV G281E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 91113 chr10 112642840 112642840 C A PDCD4 Nonsynonymous SNV N128K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 91114 chr1 200818456 200818456 T C rs763965896 CAMSAP2 Synonymous SNV T837T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.075 91115 chr1 180124061 180124061 G C rs10913933 QSOX1 Nonsynonymous SNV G7R 0.006 0 0 0 7 0 0 0 0 0 0 0 1.045 91116 chr1 200870276 200870276 C T rs750580083 INAVA Nonsynonymous SNV P170L 0 0 0 2 0 0 0.005 0 0 0 0 0 16.47 91117 chr10 21806350 21806350 G C rs550333279 SKIDA1 Nonsynonymous SNV D134E 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 9.581 91118 chr10 25886879 25886879 A G rs149674171 GPR158 Nonsynonymous SNV E775G 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 19.32 91119 chr11 551741 551741 C T rs139348192 LRRC56 Nonsynonymous SNV S296F 0.02 0.029 0.003 4 24 11 0.01 1 0 0 0 0 25.2 91120 chr11 1874414 1874414 G A LSP1 Nonsynonymous SNV E14K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 91121 chr10 72358121 72358121 G A rs765858178 PRF1 Synonymous SNV T452T 0 0 0 2 0 0 0.005 0 0 0 0 0 7.029 91122 chr10 72517959 72517959 C T rs142793104 ADAMTS14 Synonymous SNV A1032A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.46 91123 chr11 58275211 58275211 G A rs148173637 OR5B21 Nonsynonymous SNV A123V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 91124 chr1 186057350 186057350 T C rs199989516 HMCN1 Synonymous SNV C3173C 0.003 0 0 0 3 0 0 0 0 0 0 0 6.113 91125 chr11 2930818 2930818 G A rs779308316 SLC22A18 Nonsynonymous SNV M223I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 24.3 91126 chr10 74700982 74700982 G T rs377271378 PLA2G12B Synonymous SNV L47L 0 0 0 3 0 0 0.008 0 0 0 0 0 6.564 91127 chr11 55861580 55861580 C T rs116327084 OR8I2 Nonsynonymous SNV S266L 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 91128 chr11 59573980 59573980 C T rs12787462 MRPL16 Nonsynonymous SNV R199Q 0.009 0.003 0.007 7 10 1 0.018 2 0 0 0 0 20.2 91129 chr11 59629059 59629059 A G rs200554043 TCN1 Nonsynonymous SNV V166A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 91130 chr10 8100480 8100480 A C GATA3 Nonsynonymous SNV T152P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23 91131 chr10 123846488 123846488 T C rs143443054 TACC2 Synonymous SNV D1491D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 91132 chr1 201180114 201180114 - GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA IGFN1 P2041_E2042insKGMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAP 0.001 0 0.003 0 1 0 0 1 0 0 0 0 91133 chr10 81318736 81318736 T C rs1713397 SFTPA2 Synonymous SNV T76T 0.008 0.013 0.003 7 9 5 0.018 1 0 0 0 0 Benign 0.011 91134 chr10 81318737 81318737 G A rs147158327 SFTPA2 Nonsynonymous SNV T76I 0.008 0.013 0.003 7 9 5 0.018 1 0 0 0 0 Likely benign 0.381 91135 chr1 205555198 205555198 G A rs777291985 MFSD4A Nonsynonymous SNV E338K 0 0 0 2 0 0 0.005 0 0 0 0 0 18.56 91136 chr10 124697460 124697460 A G rs777872107 C10orf88 Synonymous SNV S288S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.241 91137 chr11 290050 290050 G A rs139686173 PGGHG Synonymous SNV E78E 0.009 0.013 0.01 5 11 5 0.013 3 0 0 0 0 8.452 91138 chr10 125521677 125521677 G A rs117528548 CPXM2 Synonymous SNV A496A 0.008 0.008 0.014 4 9 3 0.01 4 0 0 0 0 6.392 91139 chr11 31451885 31451885 A G rs199583903 DNAJC24 Synonymous SNV E129E 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 8.173 91140 chr10 1279777 1279777 C T rs754187753 ADARB2 Nonsynonymous SNV E458K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 91141 chr11 60780996 60780996 T G CD6 Nonsynonymous SNV F418V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 91142 chr10 90492227 90492227 T G rs41284084 LIPK Nonsynonymous SNV F196L 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 25 91143 chr10 90674382 90674382 A C rs139001360 STAMBPL1 Synonymous SNV G290G 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 4.295 91144 chr10 46999807 46999807 G A GPRIN2 Synonymous SNV R309R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.212 91145 chr11 34378547 34378547 C A rs113790960 ABTB2 Nonsynonymous SNV R195L 0.014 0.013 0.007 2 16 5 0.005 2 0 0 0 0 23.2 91146 chr10 47000247 47000247 C T GPRIN2 Nonsynonymous SNV A456V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 91147 chr1 207039679 207039679 A C rs112004526 IL20 Nonsynonymous SNV L65F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 91148 chr11 36597513 36597513 G A rs4151034 RAG1 Nonsynonymous SNV D887N 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign/Likely benign 17.57 91149 chr1 212515602 212515602 G C rs374082551 PPP2R5A Nonsynonymous SNV D128H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 31 91150 chr10 50025340 50025340 C T rs371960078 WDFY4 Synonymous SNV S1797S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.41 91151 chr10 50025403 50025403 G A rs188432016 WDFY4 Synonymous SNV P1818P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.7 91152 chr1 214819897 214819897 G A rs41277192 CENPF Synonymous SNV E2328E 0.013 0.01 0.01 3 15 4 0.008 3 0 0 0 0 Benign 11.48 91153 chr11 4703451 4703451 C T rs768467736 OR51E2 Nonsynonymous SNV R164Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 19.24 91154 chr10 96484137 96484137 C - rs746629797 CYP2C18 R274Efs*38 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 91155 chr10 95111207 95111207 - C MYOF Frameshift insertion D1249Gfs*46 0 0.003 0 1 0 1 0.003 0 0 0 0 0 91156 chr1 209796463 209796463 G T LAMB3 Nonsynonymous SNV P807H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 91157 chr10 97143993 97143993 A G rs771534252 SORBS1 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 25.4 91158 chr11 62561846 62561846 G A rs201533876 NXF1 Synonymous SNV F548F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 91159 chr1 217856622 217856622 A G rs12035909 SPATA17 Nonsynonymous SNV Y105C 0.008 0.018 0.031 10 9 7 0.026 9 0 0 0 0 24.9 91160 chr11 48285770 48285770 C T rs79872488 OR4X1 Nonsynonymous SNV R120C 0.01 0.013 0.007 5 12 5 0.013 2 0 0 0 0 23.6 91161 chr10 50870798 50870798 G A CHAT Nonsynonymous SNV M531I 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 13.69 91162 chr11 57311165 57311165 G T rs373737503 SMTNL1 Synonymous SNV V267V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.482 91163 chr11 63141365 63141365 G A SLC22A9 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 91164 chr10 15138264 15138264 T A rs6602812 RPP38-DT 0 0 0.037 0 0 0 0 11 0 0 4 0 4.002 91165 chr11 44941453 44941453 C T rs778653685 TSPAN18 Nonsynonymous SNV P173L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.1 91166 chr11 5799453 5799453 G T rs185237396 OR52N5 Nonsynonymous SNV P138T 0.003 0.005 0 9 3 2 0.023 0 0 0 0 4 24.1 91167 chr10 99667840 99667840 A G rs35333633 CRTAC1 Synonymous SNV N260N 0.014 0.01 0.003 7 17 4 0.018 1 0 0 0 0 8.599 91168 chr10 99995882 99995882 G A rs115268639 R3HCC1L Nonsynonymous SNV E744K 0.009 0.01 0 5 11 4 0.013 0 0 0 0 0 22.4 91169 chr11 100792335 100792335 G A rs75746929 ARHGAP42 Synonymous SNV P199P 0.055 0.06 0.01 35 64 23 0.09 3 1 0 0 1 16.17 91170 chr11 64032576 64032576 G A PLCB3 Nonsynonymous SNV G869R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 91171 chr11 47267079 47267079 C T rs10838677 ACP2 Synonymous SNV L133L 0.027 0.031 0.031 11 32 12 0.028 9 0 0 0 0 Benign 12.08 91172 chr11 47433573 47433573 C T rs140574574 SLC39A13 Nonsynonymous SNV T133M 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 91173 chr11 64375511 64375511 G A rs754091959 NRXN2 Synonymous SNV D386D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 91174 chr10 61007460 61007460 C T rs150716676 FAM13C Nonsynonymous SNV E460K 0.011 0.008 0.003 4 13 3 0.01 1 0 0 0 0 33 91175 chr10 21463585 21463585 G A rs117347142 NEBL-AS1 0 0 0.031 0 0 0 0 9 0 0 0 0 9.287 91176 chr11 59574289 59574289 T G MRPL16 Nonsynonymous SNV Y96S 0.003 0 0 0 4 0 0 0 0 0 0 0 24 91177 chr11 64664027 64664027 G A rs145452960 ATG2A Synonymous SNV L1770L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 91178 chr1 227922874 227922874 G C rs201975311 JMJD4 Nonsynonymous SNV S80W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 91179 chr10 27508710 27508710 G A rs779780388 ACBD5 Synonymous SNV A80A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 91180 chr10 28224092 28224092 C A rs145619075 ARMC4 Nonsynonymous SNV G306V 0.001 0.013 0.007 0 1 5 0 2 0 0 0 0 Likely benign 34 91181 chr11 65374750 65374750 T A MAP3K11 Nonsynonymous SNV M494L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.496 91182 chr1 227920645 227920645 G A rs771959028 JMJD4 Synonymous SNV C348C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.778 91183 chr10 71332670 71332670 C T rs143182569 NEUROG3 Nonsynonymous SNV G44R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.922 91184 chr1 227954742 227954742 C T rs34209229 SNAP47 Synonymous SNV S357S 0.008 0.01 0.024 10 9 4 0.026 7 0 0 0 0 9.902 91185 chr10 3176363 3176363 A C rs2306310 SNORD142 0 0 0.014 0 0 0 0 4 0 0 0 0 0.613 91186 chr11 61533509 61533509 G C rs372097423 MYRF Nonsynonymous SNV V72L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 12.3 91187 chr11 6567096 6567096 C T rs61735751 DNHD1 Synonymous SNV L1643L 0.024 0.01 0.037 6 28 4 0.015 11 0 0 0 0 7.916 91188 chr10 73039636 73039636 G A rs116787916 UNC5B Synonymous SNV P46P 0.014 0.013 0.017 7 17 5 0.018 5 0 0 0 0 11.47 91189 chr11 48387595 48387595 A G rs554773218 OR4C5 Synonymous SNV Y141Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.005 91190 chr11 6220820 6220820 A G rs142937293 OR52W1 Nonsynonymous SNV M123V 0.003 0.005 0.003 5 3 2 0.013 1 0 0 0 0 24.2 91191 chr11 66030457 66030457 C T rs770548281 KLC2 Synonymous SNV H157H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 91192 chr10 73579575 73579575 G A rs140066253 PSAP Nonsynonymous SNV T365M 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 91193 chr11 102195962 102195962 A G rs150502736 BIRC3 Nonsynonymous SNV D241G 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 0.014 91194 chr11 6235656 6235656 G A rs117940741 FAM160A2 Nonsynonymous SNV R848C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 25.1 91195 chr11 102201848 102201848 G A rs17878663 BIRC3 Synonymous SNV Q400Q 0.003 0.01 0.014 1 4 4 0.003 4 0 0 0 0 5.711 91196 chr11 66243420 66243420 C G PELI3 Nonsynonymous SNV L291V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 91197 chr11 66243455 66243455 G A PELI3 Synonymous SNV G302G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.85 91198 chr1 234564951 234564951 A T rs12135427 TARBP1 Nonsynonymous SNV F997L 0.028 0.029 0.017 10 33 11 0.026 5 0 0 0 0 15.88 91199 chr10 76790736 76790736 G A rs756847080 KAT6B Nonsynonymous SNV G1271R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 25.1 91200 chr1 235971805 235971805 C T rs147220685 LYST Synonymous SNV Q771Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.83 91201 chr11 62416859 62416859 G A rs117991865 INTS5 Synonymous SNV G231G 0.01 0 0 1 12 0 0.003 0 0 0 0 0 4.148 91202 chr11 102649482 102649482 T C rs17860955 MMP10 0.03 0.031 0.014 13 35 12 0.033 4 0 1 0 0 22.7 91203 chr1 233313594 233313594 G T rs41307684 PCNX2 Nonsynonymous SNV A1076E 0.009 0.008 0.024 3 10 3 0.008 7 0 0 0 0 6.445 91204 chr1 233353901 233353901 G A rs74503807 PCNX2 Nonsynonymous SNV A845V 0.012 0.01 0.017 3 14 4 0.008 5 0 0 0 0 23.9 91205 chr1 235599061 235599061 C T rs763729563 TBCE Nonsynonymous SNV P134S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 91206 chr11 5423977 5423977 G A rs77173896 OR51J1 Nonsynonymous SNV V51I 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 0.382 91207 chr11 10540673 10540673 G A rs778761296 RNF141 Synonymous SNV T150T 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 13.41 91208 chr11 108163487 108163487 C T rs1800889 ATM Synonymous SNV P1526P 0.02 0.018 0.01 4 24 7 0.01 3 0 0 0 0 Benign/Likely benign 12.84 91209 chr11 5364733 5364733 G T rs554096970 OR51B5 Nonsynonymous SNV H8N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 91210 chr11 5529163 5529163 T G rs140594143 UBQLN3 Synonymous SNV L542L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 3.307 91211 chr1 244849937 244849937 A G rs151272559 DESI2 Synonymous SNV G27G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.28 91212 chr11 1080917 1080917 C G rs41442048 MUC2 Nonsynonymous SNV P434R 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 19.89 91213 chr1 237787110 237787110 T C RYR2 Nonsynonymous SNV C1988R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.9 91214 chr10 93668051 93668051 C G rs80269321 FGFBP3 Nonsynonymous SNV D226H 0.03 0.013 0 7 35 5 0.018 0 1 0 0 0 19.34 91215 chr11 7022317 7022317 C T rs143007319 ZNF214 Synonymous SNV Q199Q 0.009 0.003 0.007 6 10 1 0.015 2 0 0 0 0 7.701 91216 chr10 5558461 5558461 G C rs11591971 CALML3-AS1 0 0 0.112 0 0 0 0 33 0 0 7 0 1.662 91217 chr10 94733827 94733827 A T rs141833134 EXOC6 Synonymous SNV A494A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.315 91218 chr11 65302736 65302736 C T SCYL1 Synonymous SNV N423N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 11.89 91219 chr11 55681130 55681130 A T rs34573569 OR5W2 Nonsynonymous SNV F310Y 0.027 0.023 0.082 9 32 9 0.023 24 3 0 1 0 14.15 91220 chr11 113678765 113678765 T C rs45570432 USP28 Nonsynonymous SNV T467A 0.008 0.005 0 8 9 2 0.021 0 0 0 0 0 15.84 91221 chr10 95892113 95892113 G A rs750894632 PLCE1 Synonymous SNV S155S 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 9.869 91222 chr11 113679130 113679130 G A rs747352985 USP28 Nonsynonymous SNV R399C 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 91223 chr11 113848605 113848605 C T rs369239075 HTR3A Synonymous SNV T60T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.157 91224 chr11 71906691 71906691 C T rs61735636 FOLR1 Synonymous SNV N131N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.619 91225 chr10 6393009 6393009 A G rs744253 LINC02656 0 0 0.031 0 0 0 0 9 0 0 4 0 7.194 91226 chr11 71940252 71940252 A G rs138340411 INPPL1 Nonsynonymous SNV T213A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.11 91227 chr11 116707739 116707739 A C rs199759119 APOA1 Nonsynonymous SNV S60A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 23.9 91228 chr11 117266269 117266269 A G rs56699807 CEP164 Nonsynonymous SNV T977A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 11.71 91229 chr11 117299079 117299079 C T rs143875346 DSCAML1 Nonsynonymous SNV A2043T 0.007 0.01 0.014 8 8 4 0.021 4 0 0 0 0 16.76 91230 chr10 99527552 99527552 T C SFRP5 Nonsynonymous SNV K225E 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26.8 91231 chr11 6643638 6643638 T C DCHS1 Nonsynonymous SNV Y3090C 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 22.6 91232 chr10 70776067 70776067 T C rs41279644 KIFBP Synonymous SNV P587P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.851 91233 chr10 71007270 71007270 C T rs139689016 HKDC1 Nonsynonymous SNV R396C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 91234 chr11 6661600 6661600 G T rs117368891 DCHS1 Nonsynonymous SNV S415R 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign/Likely benign 13.42 91235 chr11 100999245 100999245 G A rs11571145 PGR Nonsynonymous SNV P186L 0.023 0.003 0.01 9 27 1 0.023 3 0 0 0 0 23.2 91236 chr10 72633128 72633128 C T SGPL1 Synonymous SNV G360G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 91237 chr11 67414358 67414358 C T rs373688915 ACY3 Nonsynonymous SNV A53T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 22.6 91238 chr11 77884965 77884965 G A rs201151831 KCTD21 Synonymous SNV P212P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.564 91239 chr1 248524894 248524894 C T rs144661113 OR2T4 Synonymous SNV I4I 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 7.194 91240 chr11 77920861 77920861 C A rs61760228 USP35 Nonsynonymous SNV P654T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.029 91241 chr1 248525473 248525473 C T rs763204697 OR2T4 Synonymous SNV T197T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 91242 chr11 68703887 68703887 G A rs77822399 IGHMBP2 Nonsynonymous SNV V647I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.33 91243 chr10 75567902 75567902 C T rs752822902 NDST2 Nonsynonymous SNV R82Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 91244 chr2 1653023 1653023 G A rs949156715 PXDN Synonymous SNV D843D 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.909 91245 chr11 7818172 7818172 G A rs140285767 OR5P2 Synonymous SNV V106V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.47 91246 chr11 6898789 6898789 G A rs140094304 OR10A4 Nonsynonymous SNV R304Q 0.013 0.016 0.003 11 15 6 0.028 1 0 0 0 1 Benign 23.3 91247 chr11 56143968 56143968 A G rs72925530 OR8U1, OR8U8 Nonsynonymous SNV Y290C 0.037 0.039 0.041 17 44 15 0.044 12 0 0 0 0 20.8 91248 chr2 11738067 11738067 G A rs142491651 GREB1 Synonymous SNV V705V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.14 91249 chr2 9013424 9013424 C T rs34573615 MBOAT2 Nonsynonymous SNV V100I 0.011 0.003 0.003 2 13 1 0.005 1 0 0 0 0 24.9 91250 chr2 9588338 9588338 T C rs11890304 CPSF3 Synonymous SNV H381H 0.008 0.003 0.01 2 9 1 0.005 3 0 0 1 0 4.537 91251 chr11 124950511 124950511 C T rs779376731 SLC37A2 Nonsynonymous SNV R177W 0.004 0 0 3 5 0 0.008 0 0 0 0 0 34 91252 chr10 86130899 86130899 C T rs143128097 CCSER2 Nonsynonymous SNV P31S 0.01 0.016 0.01 3 12 6 0.008 3 0 0 0 0 4.506 91253 chr10 88703513 88703513 G A rs371928522 MMRN2 Nonsynonymous SNV A343V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 91254 chr11 5632311 5632311 G T rs140306650 TRIM6 Nonsynonymous SNV W227C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 91255 chr11 58919922 58919922 - GCAGATACTT rs533676902 FAM111A Frameshift insertion F264Lfs*7 0.013 0.01 0 0 15 4 0 0 0 0 0 0 91256 chr11 125770079 125770079 G A rs775566887 HYLS1 Synonymous SNV R272R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 9.429 91257 chr11 56431387 56431387 G A rs75730404 OR5AR1 Nonsynonymous SNV A76T 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 14.9 91258 chr2 21229885 21229885 G A rs72654403 APOB Synonymous SNV I3285I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.008 91259 chr11 59224495 59224495 G A rs141416036 OR4D6 Nonsynonymous SNV R21Q 0.009 0.013 0.007 3 11 5 0.008 2 0 0 0 0 0.005 91260 chr11 57573434 57573434 A G CTNND1 Synonymous SNV Q500Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.01 91261 chr11 76122090 76122090 G A rs181484454 GVQW3 Nonsynonymous SNV C217Y 0.005 0 0 0 6 0 0 0 0 0 0 0 12.94 91262 chr11 126135973 126135973 C T rs2962118 SRPRA Synonymous SNV A284A 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 14.72 91263 chr10 93668548 93668548 C T rs534654065 FGFBP3 Nonsynonymous SNV S60N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.9 91264 chr2 17851750 17851750 A G rs146507725 SMC6 Synonymous SNV L1001L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.036 91265 chr2 20424573 20424573 G A rs59231157 SDC1 Nonsynonymous SNV P19L 0.017 0.013 0.024 10 20 5 0.026 7 4 0 0 1 17.56 91266 chr2 20871181 20871181 G - GDF7 R450Sfs*18 0.003 0.003 0 0 3 1 0 0 0 0 0 0 91267 chr11 104825648 104825648 C T rs55725009 CASP4 Nonsynonymous SNV V30M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.47 91268 chr11 126201416 126201416 C T DCPS Nonsynonymous SNV H172Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.333 91269 chr11 9597486 9597486 G T rs34412975 WEE1 Nonsynonymous SNV G210C 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Benign 23.4 91270 chr11 126314960 126314960 C T rs562824080 KIRREL3 Nonsynonymous SNV R389H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 31 91271 chr2 27324254 27324304 GCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATCTCCTTCA - CGREF1 E266_A282del 0 0 0 3 0 0 0.008 0 0 0 0 1 91272 chr11 106888620 106888620 G C rs190241007 GUCY1A2 Synonymous SNV A54A 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 9.303 91273 chr11 107197714 107197714 A C rs150760694 CWF19L2 Nonsynonymous SNV F869L 0.003 0.013 0 0 3 5 0 0 0 0 0 0 27.9 91274 chr11 57464263 57464263 C T rs574352985 ZDHHC5 Nonsynonymous SNV P347L 0.006 0.013 0 0 7 5 0 0 0 0 0 0 33 91275 chr11 107299653 107299653 T C rs79735062 CWF19L2 Synonymous SNV P435P 0.003 0.013 0 0 3 5 0 0 0 0 0 0 0.231 91276 chr11 107427616 107427616 C G rs17107135 ALKBH8 Synonymous SNV P84P 0.003 0.013 0.017 3 4 5 0.008 5 0 0 0 0 14.49 91277 chr11 130079574 130079574 C T rs116956726 ST14 Synonymous SNV P808P 0.003 0.005 0.027 5 4 2 0.013 8 0 0 0 0 13.84 91278 chr2 27598539 27598539 G A rs771066914 SNX17 Nonsynonymous SNV R289Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 25.5 91279 chr11 10795715 10795715 A G CTR9 Nonsynonymous SNV R938G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 91280 chr11 61015898 61015898 A C rs200053998 PGA5 Nonsynonymous SNV K222Q 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 6.653 91281 chr2 25656835 25656835 G A rs201598651 DTNB Synonymous SNV N225N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.377 91282 chr2 25754408 25754408 G A rs200652614 DTNB Nonsynonymous SNV T108M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.3 91283 chr2 27802866 27802866 T C rs201361743 C2orf16 Nonsynonymous SNV Y1143H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 13.82 91284 chr10 99225691 99225691 C T rs368460281 MMS19 Nonsynonymous SNV G445R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 91285 chr10 99342400 99342400 C T rs149812913 ANKRD2 Nonsynonymous SNV R259C 0.001 0.008 0.014 0 1 3 0 4 0 0 0 0 33 91286 chr11 108224555 108224555 A G rs376676328 ATM Nonsynonymous SNV R2912G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 29.3 91287 chr11 132205008 132205008 C T rs138401779 NTM Nonsynonymous SNV L335F 0.034 0.016 0.031 16 40 6 0.041 9 0 0 0 0 11.51 91288 chr11 134109936 134109936 G A rs200963519 VPS26B Synonymous SNV E144E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.58 91289 chr11 134118713 134118713 G T rs189393672 THYN1 Synonymous SNV P207P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.108 91290 chr2 29294626 29294626 A G rs184644658 PCARE Synonymous SNV P834P 0.014 0.01 0.027 12 17 4 0.031 8 0 0 0 0 Conflicting interpretations of pathogenicity 0.009 91291 chr11 10875397 10875397 C T rs535067630 ZBED5 Nonsynonymous SNV E366K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.43 91292 chr2 26688662 26688662 C T rs2272071 OTOF Synonymous SNV V869V 0.014 0.01 0.01 5 17 4 0.013 3 0 0 0 0 Benign/Likely benign 13.03 91293 chr2 26699159 26699159 C T rs4997760 OTOF Synonymous SNV S211S 0.014 0.01 0.01 5 17 4 0.013 3 0 0 0 0 Benign/Likely benign 12.74 91294 chr2 26699822 26699822 G A rs2272068 OTOF Synonymous SNV L181L 0.014 0.01 0.007 5 17 4 0.013 2 0 0 0 0 Benign/Likely benign 12.63 91295 chr11 62490145 62490145 G A HNRNPUL2 Synonymous SNV L341L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.632 91296 chr2 32419022 32419022 C T rs148435831 SLC30A6 Nonsynonymous SNV R82W 0.004 0 0 3 5 0 0.008 0 0 0 0 0 34 91297 chr11 6048408 6048408 C A rs151331727 OR56A1 Nonsynonymous SNV C176F 0.003 0.003 0.003 6 4 1 0.015 1 0 0 0 0 24.8 91298 chr11 18305354 18305354 C T rs17853184 HPS5 Nonsynonymous SNV E902K 0.005 0.01 0.003 4 6 4 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 91299 chr11 18487274 18487274 G T rs140413894 LDHAL6A Nonsynonymous SNV R112L 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 26.4 91300 chr12 106633874 106633874 T C rs377084647 CKAP4 Nonsynonymous SNV K246R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.49 91301 chr2 27528523 27528523 C T TRIM54 Synonymous SNV R227R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 91302 chr2 32740353 32740353 C T rs61757638 BIRC6 Nonsynonymous SNV A3622V 0.005 0 0.014 3 6 0 0.008 4 0 0 0 0 Likely benign 31 91303 chr2 27587447 27587447 T C rs148810263 EIF2B4 Synonymous SNV Q485Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign/Likely benign 0.209 91304 chr2 27726437 27726437 A C rs147073127 GCKR Nonsynonymous SNV Q234P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 22.8 91305 chr11 63669715 63669715 C G rs373691600 MARK2 Nonsynonymous SNV L383V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.61 91306 chr2 37032796 37032796 T A rs200166114 VIT Nonsynonymous SNV F424I 0.003 0 0 5 4 0 0.013 0 0 0 0 0 32 91307 chr11 92715412 92715412 C T rs762613035 MTNR1B Synonymous SNV H341H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.681 91308 chr2 38908467 38908467 C T rs200877275 GALM Nonsynonymous SNV R131C 0.005 0 0 5 6 0 0.013 0 0 0 0 0 24 91309 chr11 93471374 93471374 - A rs749841222 TAF1D Frameshift insertion D121Rfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 91310 chr12 109577695 109577695 T A ACACB Nonsynonymous SNV M162K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 91311 chr11 60274582 60274582 T - rs754928643 MS4A12 N218Mfs*39 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 91312 chr2 42946134 42946134 A G rs200799873 MTA3 Nonsynonymous SNV D447G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 22.8 91313 chr2 42994814 42994814 C G rs34053133 HAAO Nonsynonymous SNV G235R 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 28.7 91314 chr11 60609982 60609982 C T rs773841693 CCDC86 Stop gain Q129X 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 28.9 91315 chr11 94731902 94731902 C T KDM4D Nonsynonymous SNV P456S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.72 91316 chr11 9500089 9500089 A C ZNF143 Nonsynonymous SNV I145L 0.002 0 0 8 2 0 0.021 0 0 0 0 1 9.745 91317 chr11 60621004 60621004 G C rs752571407 PTGDR2 Synonymous SNV T64T 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 7.241 91318 chr2 47606105 47606105 T C EPCAM Nonsynonymous SNV V190A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 14.18 91319 chr11 1026422 1026422 G A rs374567777 MUC6 Synonymous SNV A817A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.577 91320 chr11 102651313 102651313 G C rs17435959 MMP10 Nonsynonymous SNV L4V 0.026 0.023 0.041 8 31 9 0.021 12 1 0 0 0 21 91321 chr12 112478316 112478316 G A rs78983078 NAA25 Nonsynonymous SNV T836I 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 10.77 91322 chr11 60971041 60971041 A G rs78669446 PGA3 Nonsynonymous SNV K2R 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 19.82 91323 chr11 2443537 2443537 C T rs141187622 TRPM5 Synonymous SNV P44P 0.009 0.003 0.003 10 10 1 0.026 1 0 0 0 0 5.227 91324 chr11 2594106 2594106 C T rs189991547 KCNQ1 Synonymous SNV L271L 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.03 91325 chr11 103057013 103057013 C T rs912686507 DYNC2H1 Nonsynonymous SNV P2226S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 91326 chr11 65367080 65367080 G A rs370331573 MAP3K11 Nonsynonymous SNV P664L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.68 91327 chr11 10327562 10327562 G C ADM Synonymous SNV G55G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.305 91328 chr11 103907673 103907673 C T rs138352725 DDI1 Synonymous SNV P41P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.488 91329 chr11 63994539 63994539 C T rs142889509 NUDT22 Nonsynonymous SNV R139C 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 34 91330 chr11 104900535 104900535 C T rs45617533 CASP1 Nonsynonymous SNV R219Q 0 0 0.01 0 0 0 0 3 0 0 0 0 13.88 91331 chr2 43931168 43931168 G A rs145437024 PLEKHH2 Nonsynonymous SNV A567T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 91332 chr11 65546262 65546262 T G AP5B1 Nonsynonymous SNV T568P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.656 91333 chr12 113875760 113875760 G A rs150420059 SDSL Nonsynonymous SNV R289Q 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 18.27 91334 chr2 46602869 46602869 G A rs769824544 EPAS1 Nonsynonymous SNV M309I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.5 91335 chr12 116429324 116429324 G A rs568906108 MED13L Synonymous SNV V1145V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.2 91336 chr2 48027361 48027361 C T rs63751305 MSH6 Synonymous SNV L617L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 9.979 91337 chr12 107395602 107395602 T C rs201634474 CRY1 Nonsynonymous SNV T179A 0.004 0 0 0 5 0 0 0 0 0 0 0 2.751 91338 chr2 61575491 61575491 T C rs749229768 USP34 Nonsynonymous SNV Q600R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 17.34 91339 chr12 119978507 119978507 G A rs149106624 CCDC60 Nonsynonymous SNV S547N 0.011 0.016 0.003 3 13 6 0.008 1 0 0 0 0 0.261 91340 chr11 64564660 64564660 G C rs151326506 MAP4K2 Synonymous SNV T427T 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 1.153 91341 chr12 119978508 119978508 C A rs146234047 CCDC60 Nonsynonymous SNV S547R 0.011 0.016 0.003 3 13 6 0.008 1 0 0 0 0 22.3 91342 chr2 62450391 62450391 G A rs145883014 B3GNT2 Nonsynonymous SNV V346I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.25 91343 chr2 49381526 49381526 A C rs551113676 FSHR Nonsynonymous SNV F11V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.95 91344 chr11 110035576 110035576 A G rs199586562 ZC3H12C Nonsynonymous SNV Y589C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 91345 chr11 64789214 64789214 C T rs375384323 ARL2 Nonsynonymous SNV R121C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 29 91346 chr11 62343667 62343667 A T rs118073625 TUT1 Nonsynonymous SNV W489R 0.02 0.021 0.003 2 23 8 0.005 1 0 0 0 0 0.397 91347 chr11 111746041 111746041 A G rs117189763 FDXACB1 Synonymous SNV L494L 0.013 0.016 0.014 9 15 6 0.023 4 0 0 0 0 0.112 91348 chr11 111746231 111746231 G A rs118065273 FDXACB1 Synonymous SNV S430S 0.013 0.016 0.014 9 15 6 0.023 4 0 0 0 0 0.011 91349 chr11 34473709 34473709 C T CAT Synonymous SNV L145L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 17.36 91350 chr11 111747587 111747587 C T rs75258745 FDXACB1 Nonsynonymous SNV D160N 0.013 0.018 0.014 9 15 7 0.023 4 0 0 0 0 15.82 91351 chr11 111753246 111753246 G A rs117090799 C11orf1 Nonsynonymous SNV R67H 0.013 0.016 0.014 9 15 6 0.023 4 0 0 0 0 19.52 91352 chr11 64811700 64811700 C G rs370667415 SAC3D1 Nonsynonymous SNV R214G 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 26.4 91353 chr11 62400108 62400108 G A rs1063445 GANAB Nonsynonymous SNV R195C 0.018 0.018 0.003 2 21 7 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 91354 chr11 111796689 111796689 T C rs117666512 C11orf52 Synonymous SNV H46H 0.012 0.016 0.014 9 14 6 0.023 4 0 0 0 0 0.005 91355 chr11 111896251 111896251 G C rs61757217 DLAT Nonsynonymous SNV E19Q 0.012 0.016 0.014 9 14 6 0.023 4 0 0 0 0 Benign 4.355 91356 chr11 111899635 111899635 A G rs11553595 DLAT Nonsynonymous SNV Q209R 0.012 0.016 0.017 9 14 6 0.023 5 0 0 0 0 Benign 12.84 91357 chr11 35236441 35236441 C T rs776055701 CD44 Nonsynonymous SNV T237I 0.006 0 0 4 7 0 0.01 0 0 0 0 0 27.8 91358 chr11 3115015 3115015 C T rs73413562 OSBPL5 Synonymous SNV T522T 0.003 0 0 0 3 0 0 0 0 0 0 0 15.59 91359 chr11 111942362 111942362 A G rs117706566 PIH1D2 Nonsynonymous SNV S100P 0.012 0.016 0.014 9 14 6 0.023 4 0 0 0 0 13.16 91360 chr11 111957665 111957665 G A rs34677591 SDHD Nonsynonymous SNV G12S 0.013 0.023 0.014 10 15 9 0.026 4 0 1 0 0 Benign/Likely benign 13.46 91361 chr11 111959625 111959625 C T rs9919552 SDHD Synonymous SNV S29S 0.015 0.023 0.017 10 18 9 0.026 5 0 1 0 0 Benign 18.28 91362 chr12 110471639 110471639 G T rs755903359 ANKRD13A Synonymous SNV V462V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.58 91363 chr12 122717346 122717346 C T rs770831510 VPS33A 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 91364 chr2 71297939 71297939 G A rs746760937 NAGK Synonymous SNV G10G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.34 91365 chr12 122821236 122821236 T C rs753211685 CLIP1 Synonymous SNV E791E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.902 91366 chr11 124757104 124757104 G A rs141748433 ROBO4 Nonsynonymous SNV P590L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.661 91367 chr2 68740695 68740695 A G rs145654399 APLF Nonsynonymous SNV N169D 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 0.015 91368 chr12 123805371 123805371 T C SBNO1 Nonsynonymous SNV K789R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 91369 chr11 68747529 68747529 C T rs138573323 MRGPRD Synonymous SNV G309G 0.015 0.016 0.02 2 18 6 0.005 6 0 0 0 0 10.73 91370 chr12 112381129 112381129 C A rs766529422 TMEM116 Nonsynonymous SNV W85C 0.006 0 0 8 7 0 0.021 0 0 0 0 0 26.6 91371 chr11 1254287 1254287 G A rs200294410 MUC5B Nonsynonymous SNV V704M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.777 91372 chr11 35250751 35250751 C T rs759881397 CD44 Nonsynonymous SNV R113W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.376 91373 chr11 117066353 117066353 G C rs2269399 LOC100652768 0 0 0.051 0 0 0 0 15 0 0 0 0 0.411 91374 chr12 124421668 124421668 C T rs372423224 CCDC92 Synonymous SNV A294A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 91375 chr11 65639462 65639462 G A rs144320036 EFEMP2 Nonsynonymous SNV P47S 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.17 91376 chr11 64034960 64034960 G A rs146327074 PLCB3 Nonsynonymous SNV A1146T 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 8.986 91377 chr11 377139 377139 C T B4GALNT4 Synonymous SNV L672L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.615 91378 chr2 74729796 74729796 T C rs748032304 LBX2 Nonsynonymous SNV Q64R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.075 91379 chr11 118110954 118110954 C T rs145717408 MPZL3 Nonsynonymous SNV R59H 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 34 91380 chr2 74759825 74759825 G A rs72470545 HTRA2 Nonsynonymous SNV G399S 0.008 0 0.007 5 9 0 0.013 2 0 0 0 0 Benign/Likely benign 24.1 91381 chr11 118342874 118342874 A C KMT2A Nonsynonymous SNV K334Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 91382 chr11 64136044 64136044 G A rs144214742 RPS6KA4 Synonymous SNV Q429Q 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 9.589 91383 chr12 113565663 113565663 G A rs61759864 RASAL1 Synonymous SNV I84I 0.011 0.005 0 9 13 2 0.023 0 0 0 0 0 12.79 91384 chr12 113645648 113645648 C T rs139305324 IQCD Synonymous SNV L108L 0.011 0.005 0 9 13 2 0.023 0 0 0 0 0 7.654 91385 chr11 6584746 6584746 A G rs369567075 DNHD1 Synonymous SNV T3268T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 1.928 91386 chr11 128679085 128679085 G A rs759402782 FLI1 Nonsynonymous SNV R79H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 91387 chr2 74699715 74699715 T C rs141704877 MRPL53 Nonsynonymous SNV K25E 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 7.595 91388 chr11 67072418 67072418 G T rs146605334 SSH3 Nonsynonymous SNV E93D 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 0.043 91389 chr11 67072419 67072419 C T rs141467579 SSH3 Stop gain Q94X 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 36 91390 chr2 88409879 88409879 C T rs142936938 SMYD1 Nonsynonymous SNV R428W 0.003 0 0.014 3 4 0 0.008 4 0 0 0 0 33 91391 chr12 132547087 132547087 G A rs12366766 EP400 Synonymous SNV Q2725Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.147 91392 chr12 121175258 121175258 C T rs368500899 ACADS Nonsynonymous SNV L154F 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 91393 chr11 6789826 6789826 G A rs753448800 OR2AG2 Synonymous SNV D121D 0.003 0 0 0 3 0 0 0 0 0 0 0 7.955 91394 chr11 65385718 65385718 C T rs146636531 PCNX3 Synonymous SNV A295A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 7.994 91395 chr11 122848366 122848366 G T rs61737277 BSX Nonsynonymous SNV H231Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.6 91396 chr11 122888678 122888678 G C rs1461492 LOC341056 0 0 0.061 0 0 0 0 18 0 0 2 0 0.696 91397 chr11 122888805 122888805 C A rs1461493 LOC341056 0 0 0.037 0 0 0 0 11 0 0 2 0 5.383 91398 chr2 84940276 84940276 A G rs72832548 DNAH6 Nonsynonymous SNV S3146G 0.012 0.003 0.003 0 14 1 0 1 0 0 0 0 Likely benign 18.35 91399 chr2 85043186 85043186 G A rs72836490 DNAH6 Nonsynonymous SNV A4118T 0.012 0.003 0.003 0 14 1 0 1 0 0 0 0 Likely benign 33 91400 chr11 123676683 123676683 G A rs78453655 OR6M1 Synonymous SNV C125C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.087 91401 chr11 123886466 123886466 C T rs12422129 OR10G4 Nonsynonymous SNV T62I 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 21.5 91402 chr11 123886637 123886637 A G rs145402242 OR10G4 Nonsynonymous SNV Y119C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 91403 chr12 122380838 122380838 C T rs34768683 WDR66 Nonsynonymous SNV T383M 0.021 0.023 0.007 8 25 9 0.021 2 0 0 0 1 12.8 91404 chr11 123886717 123886717 G A rs503223 OR10G4 Nonsynonymous SNV G146S 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 0.014 91405 chr2 99977652 99977652 A G rs759082505 EIF5B Synonymous SNV K96K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.099 91406 chr11 123886822 123886822 C T rs1893764 OR10G4 Nonsynonymous SNV P181S 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 23 91407 chr11 123886968 123886968 C T rs116021926 OR10G4 Synonymous SNV T229T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.853 91408 chr11 17809742 17809742 C T rs138152821 SERGEF Nonsynonymous SNV E423K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.27 91409 chr11 47711820 47711820 A G rs76215382 AGBL2 Nonsynonymous SNV L480P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.2 91410 chr11 123893745 123893745 C T rs79715120 OR10G9 Nonsynonymous SNV A9V 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 3.868 91411 chr11 65793455 65793455 G A rs17846029 CATSPER1 Synonymous SNV Y132Y 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 1.317 91412 chr12 14839124 14839124 G T rs140994811 GUCY2C Synonymous SNV P122P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.626 91413 chr11 123893791 123893791 A C rs3017765 OR10G9 Synonymous SNV P24P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.001 91414 chr11 47833936 47833936 C T rs61756071 NUP160 Synonymous SNV R666R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.46 91415 chr11 123893904 123893904 C T rs144495400 OR10G9 Nonsynonymous SNV T62I 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 22.4 91416 chr11 123894246 123894246 A G rs79669172 OR10G9 Nonsynonymous SNV Y176C 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 22.5 91417 chr11 123894317 123894317 G T rs77206991 OR10G9 Nonsynonymous SNV V200L 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 9.026 91418 chr11 123894329 123894329 C G rs79417294 OR10G9 Nonsynonymous SNV L204V 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 0.001 91419 chr11 76919484 76919484 G A rs142293185 MYO7A Nonsynonymous SNV V1956I 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 91420 chr12 123519112 123519112 G A rs17884869 PITPNM2 Nonsynonymous SNV P9L 0.018 0.01 0.003 6 21 4 0.015 1 0 0 0 0 25.8 91421 chr2 95953191 95953191 C T rs753582231 PROM2 Synonymous SNV Y741Y 0.009 0 0 0 10 0 0 0 0 0 0 0 12.52 91422 chr11 123989006 123989006 T G rs35485142 VWA5A Synonymous SNV P119P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 6.703 91423 chr11 124015970 124015970 C T rs7928099 VWA5A Synonymous SNV T727T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.77 91424 chr11 78270650 78270650 G C rs774161803 NARS2 Nonsynonymous SNV H177D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.9 91425 chr12 21172285 21172285 G C rs201467702 SLCO1B7 Nonsynonymous SNV L63F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 91426 chr11 124413049 124413051 AGA - rs201026337 OR8B12 F167del 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 91427 chr11 124413491 124413491 C T rs61746453 OR8B12 Synonymous SNV P20P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 9.613 91428 chr11 124440913 124440913 G A rs116716423 OR8A1 Nonsynonymous SNV V300M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.001 91429 chr11 66473240 66473240 C T rs143083152 SPTBN2 Synonymous SNV E574E 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign/Likely benign 13.55 91430 chr11 124744752 124744752 C T rs201405429 ROBO3 Nonsynonymous SNV R674C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 91431 chr11 67075694 67075694 G A rs200430843 SSH3 Nonsynonymous SNV R312H 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 32 91432 chr2 110065896 110065896 C T rs192679474 SH3RF3 Nonsynonymous SNV S700F 0.004 0.003 0.003 8 5 1 0.021 1 0 0 0 0 18.05 91433 chr11 67250676 67250676 G A rs145047094 AIP Nonsynonymous SNV R16H 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Likely benign 25 91434 chr11 7507174 7507174 C T rs80215761 OLFML1 Nonsynonymous SNV P23L 0.009 0.018 0.017 2 10 7 0.005 5 0 0 0 0 16.62 91435 chr11 20940856 20940856 G A rs975156604 NELL1 Synonymous SNV E188E 0.003 0 0 0 4 0 0 0 1 0 0 0 10.27 91436 chr12 13061535 13061535 A G rs850932 GPRC5A Nonsynonymous SNV S118G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.07 91437 chr12 13102482 13102498 GGCATTGCCTTGTAAAG - rs576323196 GPRC5D P274Lfs*24 0.004 0.008 0 0 5 3 0 0 0 0 0 0 91438 chr11 126139155 126139155 G T FOXRED1 Nonsynonymous SNV R18S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.071 91439 chr2 120439345 120439345 C G rs896908073 TMEM177 Nonsynonymous SNV L306V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.287 91440 chr12 40637420 40637420 G T rs945483093 LRRK2 Nonsynonymous SNV A259S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 91441 chr11 92534672 92534672 C T rs369269637 FAT3 Synonymous SNV T2831T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 10.5 91442 chr2 127656552 127656552 C T rs114974431 TEX51 Nonsynonymous SNV R20C 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 25.5 91443 chr2 127961026 127961026 A G rs139058558 CYP27C1 Nonsynonymous SNV Y34H 0.015 0.008 0.01 5 18 3 0.013 3 0 0 0 0 15.39 91444 chr11 26655845 26655845 C T rs149050831 ANO3 Synonymous SNV I510I 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 Benign/Likely benign 12.31 91445 chr2 128459505 128459505 C T rs866261351 SFT2D3 Synonymous SNV L135L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.25 91446 chr12 46321482 46321482 G C rs181675504 SCAF11 Nonsynonymous SNV L668V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.026 91447 chr12 13768586 13768586 G A rs35025065 GRIN2B Synonymous SNV D447D 0.009 0.01 0.003 6 11 4 0.015 1 0 0 0 0 Benign 9.872 91448 chr2 113999197 113999197 G A rs528166239 PAX8 Synonymous SNV L236L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 7.564 91449 chr11 5423963 5423963 G T OR51J1 Nonsynonymous SNV G46V 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 15.49 91450 chr11 33308079 33308079 A G rs200300898 HIPK3 Nonsynonymous SNV Y40C 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 12.02 91451 chr11 71800166 71800166 G A rs146942815 LRTOMT Nonsynonymous SNV E13K 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 19.92 91452 chr11 33563946 33563946 C T rs930869031 KIAA1549L Synonymous SNV A279A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.694 91453 chr11 5153466 5153466 G A rs558631823 OR52A5 Nonsynonymous SNV T136I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 91454 chr2 120209611 120209611 C T rs376021809 SCTR Nonsynonymous SNV R299H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 91455 chr2 136107718 136107718 T G ZRANB3 Nonsynonymous SNV I143L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.69 91456 chr12 1937354 1937354 C T rs190717324 LRTM2 Nonsynonymous SNV L14F 0.013 0.01 0.01 2 15 4 0.005 3 0 0 0 0 20.6 91457 chr2 136602196 136602196 G A rs4988270 MCM6 Synonymous SNV I756I 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 Benign 15.39 91458 chr2 121104180 121104180 G T rs986438315 INHBB Nonsynonymous SNV R139L 0.005 0 0 5 6 0 0.013 0 0 0 0 0 20.4 91459 chr2 121107171 121107171 C T rs61737544 INHBB Synonymous SNV I315I 0.02 0.026 0.031 10 24 10 0.026 9 1 0 1 0 12.5 91460 chr11 35640904 35640904 G A rs369246173 FJX1 Synonymous SNV V240V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.679 91461 chr11 862716 862718 AGG - rs562370781 TSPAN4 E78del 0.003 0 0 0 3 0 0 0 0 0 0 0 91462 chr11 18557965 18557965 T G rs748427358 UEVLD Nonsynonymous SNV Q241P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 91463 chr2 152316514 152316514 A G rs61748230 RIF1 Nonsynonymous SNV T986A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11 91464 chr12 105543458 105543458 A G WASHC4 Synonymous SNV E861E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.994 91465 chr11 75851814 75851814 G T rs77892162 UVRAG Nonsynonymous SNV G486V 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 Likely benign 10.02 91466 chr2 133540915 133540915 G C NCKAP5 Nonsynonymous SNV P1157A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 91467 chr2 133542947 133542947 G A rs570153834 NCKAP5 Synonymous SNV D479D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 91468 chr2 136107663 136107663 T C rs183525970 ZRANB3 Nonsynonymous SNV Y161C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 26.3 91469 chr2 136528205 136528205 A G UBXN4 Nonsynonymous SNV K241R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 91470 chr11 5510710 5510712 CTT - rs561821761 OR52D1 F260del 0.004 0 0 2 5 0 0.005 0 0 0 0 0 91471 chr12 109181948 109181948 G A rs756991636 SSH1 Nonsynonymous SNV T989M 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 24.8 91472 chr11 45277405 45277405 C T rs755457486 SYT13 Nonsynonymous SNV R74H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.3 91473 chr2 144728256 144728256 C T rs750178969 GTDC1 Nonsynonymous SNV V317M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 91474 chr11 45946350 45946350 G A LARGE2 Nonsynonymous SNV G227S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.9 91475 chr12 27863855 27863855 T C MRPS35 Nonsynonymous SNV Y27H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.79 91476 chr12 109683531 109683531 A G rs147443159 ACACB Nonsynonymous SNV N1760S 0.008 0.018 0.003 4 9 7 0.01 1 0 0 0 0 17.92 91477 chr11 46338977 46338977 C T rs60813863 CREB3L1 Synonymous SNV S399S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 19 91478 chr11 46342283 46342283 T G rs73464035 CREB3L1 Nonsynonymous SNV I516S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 24.5 91479 chr11 46369238 46369238 C A rs76656670 DGKZ Nonsynonymous SNV A10D 0.021 0.021 0 9 25 8 0.023 0 1 0 0 0 18.11 91480 chr11 46369267 46369267 G A rs114974750 DGKZ Nonsynonymous SNV A20T 0.027 0.026 0 10 32 10 0.026 0 0 1 0 0 23.4 91481 chr11 7981638 7981638 A G NLRP10 Synonymous SNV N507N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.072 91482 chr11 46387883 46387883 T C rs11820791 DGKZ Nonsynonymous SNV V26A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 10.51 91483 chr11 46388024 46388024 G A rs11827702 DGKZ Nonsynonymous SNV R73Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 31 91484 chr11 804191 804191 G T rs761290019 PIDD1 Nonsynonymous SNV F66L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 91485 chr11 2417170 2417170 G A rs769264464 CD81 Synonymous SNV S106S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 91486 chr11 46406857 46406857 G A rs2229163 CHRM4 Synonymous SNV N417N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.648 91487 chr11 46702608 46702608 G A rs113273807 ARHGAP1 Synonymous SNV S196S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.96 91488 chr11 46744989 46744989 C T rs3136452 F2 Synonymous SNV P160P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 12.64 91489 chr11 4674652 4674652 A G rs149616162 OR51E1 Nonsynonymous SNV K299R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.1 91490 chr11 82917128 82917128 C G rs747686923 ANKRD42 Nonsynonymous SNV A84G 0.003 0 0 3 3 0 0.008 0 0 0 0 0 29.5 91491 chr11 46914526 46914526 C T rs61741501 LRP4 Synonymous SNV E565E 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 15.14 91492 chr11 46917868 46917868 A G rs7926667 LRP4 Nonsynonymous SNV L314S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 14.67 91493 chr11 46918529 46918529 C T rs879721 LRP4 Synonymous SNV T271T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 13.32 91494 chr11 46924404 46924404 G C rs61742974 LRP4 Synonymous SNV T43T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 9.293 91495 chr11 55761605 55761605 A G rs145426776 OR5F1 Nonsynonymous SNV L166S 0.021 0.023 0.01 3 25 9 0.008 3 0 0 0 0 23 91496 chr12 32134413 32134413 G T rs138191568 RESF1 Nonsynonymous SNV R175L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 91497 chr2 165551103 165551103 T G rs115172937 COBLL1 Nonsynonymous SNV K933N 0.003 0.008 0.007 4 3 3 0.01 2 0 0 0 0 0.006 91498 chr11 2799221 2799221 G A rs199473482 KCNQ1 Nonsynonymous SNV R583H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 28 91499 chr2 166627079 166627079 T C rs149809222 GALNT3 Synonymous SNV Q44Q 0.009 0.005 0.007 8 11 2 0.021 2 0 0 0 0 Benign 0.354 91500 chr2 166773820 166773820 G A rs139441507 TTC21B Nonsynonymous SNV R616C 0.009 0.003 0.014 8 11 1 0.021 4 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 91501 chr11 47359046 47359046 G A rs3729952 MYBPC3 Nonsynonymous SNV A833V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 26.9 91502 chr12 103234285 103234285 G A rs5030857 PAH Nonsynonymous SNV A403V 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Pathogenic 26.6 91503 chr11 3062467 3062467 G A rs105686 CARS-AS1 0 0 0.126 0 0 0 0 37 0 0 17 0 0.216 91504 chr11 3111892 3111892 C T rs763652979 OSBPL5 Nonsynonymous SNV S697N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 91505 chr11 47444393 47444393 G A rs148054958 PSMC3 Synonymous SNV A241A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.48 91506 chr12 3390490 3390490 A C TSPAN9 Synonymous SNV R187R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.724 91507 chr11 47444456 47444456 T C rs374744759 PSMC3 Synonymous SNV P220P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.091 91508 chr11 47444462 47444462 T C rs34037785 PSMC3 Synonymous SNV Q218Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.786 91509 chr11 47660327 47660327 C T rs140836301 MTCH2 Nonsynonymous SNV R68H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 91510 chr12 53491669 53491669 C T IGFBP6 Synonymous SNV G56G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.295 91511 chr12 1137127 1137127 C T rs377032908 ERC1 Nonsynonymous SNV R20C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 91512 chr12 105519873 105519873 G A rs35267264 WASHC4 Nonsynonymous SNV R293Q 0.014 0.01 0 4 17 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 91513 chr11 903051 903051 C T CHID1 Nonsynonymous SNV E58K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 91514 chr11 48134465 48134465 T C rs142849806 PTPRJ Synonymous SNV D94D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.008 91515 chr12 54718955 54718955 - GCG rs777439063 COPZ1 A3_L4insR 0.002 0.003 0 0 2 1 0 0 0 0 0 0 91516 chr12 54734289 54734289 A G rs11170877 COPZ1 Star tloss M1? 0.072 0.06 0.034 31 85 23 0.079 10 1 0 0 0 9.636 91517 chr12 54756733 54756733 A G rs112055127 GPR84 Synonymous SNV I301I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 91518 chr2 170558202 170558202 G T rs148255208 PHOSPHO2 Nonsynonymous SNV D241Y 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 19.13 91519 chr2 169948375 169948375 A G rs1005744197 DHRS9 Synonymous SNV P216P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.782 91520 chr12 10959416 10959416 C A rs142540719 TAS2R8 Nonsynonymous SNV R55I 0.005 0.013 0.007 0 6 5 0 2 0 0 0 0 26.1 91521 chr2 171822466 171822466 C G rs4668356 GORASP2 Synonymous SNV S327S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.04 91522 chr11 9878045 9878045 C T rs141330687 SBF2 Nonsynonymous SNV G775S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 91523 chr12 100042176 100042176 G A rs753279689 FAM71C Nonsynonymous SNV R75H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.935 91524 chr11 43920006 43920006 A G rs7107050 SEC14L1P1 0 0 0.204 0 0 0 0 60 0 0 7 0 6.089 91525 chr11 48347223 48347223 T C rs61735142 OR4C3 Nonsynonymous SNV I217T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.697 91526 chr12 48737414 48737414 G T rs144784236 ZNF641 Nonsynonymous SNV P197Q 0.003 0 0 0 4 0 0 0 0 0 0 0 25.8 91527 chr2 179404550 179404550 G A rs72648272 TTN Nonsynonymous SNV R23683C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 91528 chr12 103352160 103352160 A T rs552552603 ASCL1 Synonymous SNV A46A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Likely benign 0.008 91529 chr12 123064521 123064521 A G rs200477285 KNTC1 Nonsynonymous SNV K971E 0.003 0.008 0 0 4 3 0 0 0 0 0 0 23.9 91530 chr12 49938101 49938101 C T rs768314600 KCNH3 Synonymous SNV A315A 0.007 0 0 0 8 0 0 0 0 0 0 0 12.71 91531 chr12 50027247 50027247 C T rs146358365 PRPF40B Nonsynonymous SNV S144L 0.007 0 0 0 8 0 0 0 0 0 0 0 23.5 91532 chr12 57139945 57139945 G A rs369089895 PRIM1 Nonsynonymous SNV R155C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 91533 chr12 124810038 124810038 G A rs753152333 NCOR2 Synonymous SNV S2429S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 2.388 91534 chr2 179544685 179544685 - TCT rs368327166 TTN E9928_Y9929insE 0.009 0.005 0.003 0 11 2 0 1 0 0 0 0 91535 chr2 179567340 179567340 G A rs72650011 TTN Nonsynonymous SNV H8848Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.2 91536 chr12 107360943 107360943 G A rs117650853 TMEM263 Nonsynonymous SNV D17N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 91537 chr11 58317454 58317454 T C rs140764119 LPXN Nonsynonymous SNV I198V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 91538 chr12 6094224 6094224 G A rs556030217 VWF Synonymous SNV P2321P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.266 91539 chr2 179632598 179632598 C T rs72647894 TTN Nonsynonymous SNV R3074Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 91540 chr12 109725928 109725928 T C FOXN4 Nonsynonymous SNV H97R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.43 91541 chr12 132403152 132403152 G A rs143018342 ULK1 Nonsynonymous SNV D813N 0.011 0.005 0 2 13 2 0.005 0 0 0 0 0 28.2 91542 chr11 5322760 5322760 C A rs145655133 OR51B4 Nonsynonymous SNV M139I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 91543 chr12 52822258 52822258 A C KRT75 Nonsynonymous SNV C388W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 91544 chr12 110252521 110252521 A G rs34599967 TRPV4, TRPV4 Synonymous SNV G27G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.554 91545 chr12 52985275 52985275 G A rs778544219 KRT72 Synonymous SNV A312A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.195 91546 chr12 123444507 123444507 G T rs58843120 ABCB9 Nonsynonymous SNV F92L 0.017 0.018 0.02 7 20 7 0.018 6 1 0 0 0 0.007 91547 chr12 111801061 111801061 G A rs150792393 PHETA1 Synonymous SNV P57P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.53 91548 chr12 111856443 111856443 C G rs7963692 SH2B3 Nonsynonymous SNV T165S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.011 91549 chr12 111856493 111856493 T C rs7972796 SH2B3 Nonsynonymous SNV F182L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.741 91550 chr12 123801856 123801856 T C rs61751328 SBNO1 Synonymous SNV Q949Q 0.017 0.026 0.024 8 20 10 0.021 7 0 0 1 0 0.133 91551 chr12 12397432 12397432 G A rs145354281 LRP6 Synonymous SNV S71S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.49 91552 chr12 112087805 112087805 C T rs61739319 BRAP Synonymous SNV K451K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.01 91553 chr12 112103589 112103589 G A rs61999323 BRAP Synonymous SNV G250G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.07 91554 chr12 112117009 112117009 A G rs61308437 BRAP Synonymous SNV I193I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.12 91555 chr12 112121068 112121068 G A rs80229432 BRAP Synonymous SNV A42A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.226 91556 chr12 112130564 112130564 A G rs77123766 ACAD10 Synonymous SNV R17R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.148 91557 chr12 112130666 112130666 A T rs74762902 ACAD10 Synonymous SNV G51G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.304 91558 chr12 112147397 112147397 A G rs35276160 ACAD10 Nonsynonymous SNV Q200R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.984 91559 chr12 112147444 112147444 A C rs35753710 ACAD10 Nonsynonymous SNV T216P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.18 91560 chr12 14613499 14613499 T G ATF7IP Synonymous SNV T742T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.217 91561 chr12 112165856 112165856 A G rs35358426 ACAD10 Synonymous SNV R384R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.399 91562 chr12 112174765 112174765 T A rs78112811 ACAD10 Synonymous SNV R557R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.921 91563 chr12 112174773 112174773 C G rs35716113 ACAD10 Nonsynonymous SNV A560G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 91564 chr12 112187148 112187148 G T rs75655687 ACAD10 Nonsynonymous SNV R939L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 91565 chr12 112191669 112191669 C T rs80294185 ACAD10 Nonsynonymous SNV R971W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 91566 chr12 112194237 112194237 G A rs75289932 ACAD10 Nonsynonymous SNV R1047Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.37 91567 chr11 55587120 55587120 T C rs62001011 OR5D18 Synonymous SNV D5D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.003 91568 chr12 53553459 53553459 G C rs140401098 CSAD Nonsynonymous SNV P186R 0.001 0 0 0 1 0 0 0 0 0 0 0 27 91569 chr12 113617129 113617129 G A rs369762348 DDX54 Nonsynonymous SNV P128L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 27.6 91570 chr11 5153812 5153812 C T rs183596679 OR52A5 Nonsynonymous SNV G21S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 91571 chr12 116457090 116457090 C T rs61748072 MED13L Synonymous SNV K316K 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Benign 12.98 91572 chr11 5153820 5153820 C A rs188491953 OR52A5 Nonsynonymous SNV G18V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 91573 chr2 197183939 197183939 T C rs779373864 HECW2 Nonsynonymous SNV S203G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.002 91574 chr12 77259968 77259968 A G CSRP2 Nonsynonymous SNV C25R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 91575 chr12 54405135 54405135 A G HOXC8 Synonymous SNV E233E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.585 91576 chr12 13061831 13061831 G A rs376281808 GPRC5A Synonymous SNV T216T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.951 91577 chr12 78530991 78530991 C T rs61754236 NAV3 Synonymous SNV P1492P 0.012 0.005 0.007 0 14 2 0 2 0 0 0 0 Benign 12.32 91578 chr2 202626437 202626437 T C rs3219154 ALS2 Nonsynonymous SNV I94V 0.021 0.01 0.007 3 25 4 0.008 2 0 0 0 0 Benign 0.181 91579 chr2 202082397 202082397 C T rs148939095 CASP10 Nonsynonymous SNV P434L 0.009 0.016 0 5 10 6 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 91580 chr11 63177314 63177314 G T SLC22A9 Nonsynonymous SNV V548L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 91581 chr2 203684530 203684530 C A ICA1L Nonsynonymous SNV R151L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 91582 chr11 60264978 60264978 A - rs574629951 MS4A12 S63Vfs*10 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 91583 chr12 25157414 25157414 G C rs893380952 LOC645177 Nonsynonymous SNV D47H 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 14.14 91584 chr12 8085689 8085689 A T rs141717200 SLC2A3 Nonsynonymous SNV S55T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 91585 chr11 550162 550162 G A rs768045549 LRRC56 Nonsynonymous SNV V172M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 91586 chr12 2595423 2595423 T C rs201756421 CACNA1C Nonsynonymous SNV I304T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.089 91587 chr12 55968570 55968570 C T OR2AP1 Synonymous SNV I124I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 91588 chr2 204306061 204306061 G C RAPH1 Nonsynonymous SNV P618A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 91589 chr2 208440072 208440072 C G rs56020464 CREB1 Synonymous SNV T154T 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 Benign 10.95 91590 chr12 14577524 14577524 C T rs146972131 ATF7IP Synonymous SNV A225A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.89 91591 chr11 64111637 64111637 G A rs145750009 CCDC88B Nonsynonymous SNV E542K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.115 91592 chr11 60870066 60870066 T G rs73484395 CD5 Nonsynonymous SNV L12V 0.003 0.003 0.014 3 4 1 0.008 4 0 0 0 0 0.002 91593 chr12 14794126 14794126 C T rs199662310 GUCY2C Nonsynonymous SNV R653H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 91594 chr2 207422222 207422222 T G ADAM23 Synonymous SNV S335S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.53 91595 chr12 302492 302492 C G rs138178078 SLC6A12 Nonsynonymous SNV W494S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.1 91596 chr11 6462170 6462170 G A rs151128069 HPX Synonymous SNV P8P 0.014 0.008 0.007 4 17 3 0.01 2 0 0 0 0 Benign 7.161 91597 chr2 210558299 210558299 G A rs141459532 MAP2 Nonsynonymous SNV E465K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16.14 91598 chr2 210559050 210559050 G A rs148922251 MAP2 Nonsynonymous SNV G715D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 25.9 91599 chr2 210905194 210905194 T C rs78815845 KANSL1L Nonsynonymous SNV N660S 0.033 0.021 0.014 12 39 8 0.031 4 0 0 0 0 2.489 91600 chr2 210559174 210559174 T C rs34693874 MAP2 Synonymous SNV P756P 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 0.025 91601 chr12 18435328 18435328 C A rs746898871 PIK3C2G Nonsynonymous SNV P105T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.347 91602 chr2 210640651 210640651 C T rs60856233 UNC80 Synonymous SNV G60G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 14.88 91603 chr2 210798699 210798699 G C rs61749490 UNC80 Nonsynonymous SNV V1984L 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 25 91604 chr2 215818724 215818724 G A rs143387234 ABCA12 Synonymous SNV D1849D 0.012 0.008 0.007 8 14 3 0.021 2 1 0 0 0 Benign/Likely benign 8.989 91605 chr12 19467762 19467762 A G rs371284756 PLEKHA5 Synonymous SNV E512E 0.016 0.018 0.01 5 19 7 0.013 3 0 0 0 0 Benign 2.415 91606 chr2 211179765 211179765 - T rs544557603 MYL1 M1M 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 91607 chr11 56310311 56310311 G A rs148809611 OR5M11 Synonymous SNV I141I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.481 91608 chr11 56310628 56310628 G C rs144325910 OR5M11 Nonsynonymous SNV L36V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.013 91609 chr11 5632121 5632121 A G rs150778640 TRIM6 Nonsynonymous SNV H164R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 11.21 91610 chr11 5632137 5632137 C T TRIM6 Synonymous SNV V169V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.64 91611 chr11 56380929 56380929 A T rs115296663 OR5M1 Nonsynonymous SNV L17Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.7 91612 chr12 13136602 13136602 T A rs901524329 GPRC5D-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.254 91613 chr11 63141435 63141435 C T rs139591412 SLC22A9 Nonsynonymous SNV A244V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.76 91614 chr12 4719344 4719344 A G DYRK4 Nonsynonymous SNV I61V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.508 91615 chr2 219561254 219561254 G A rs13023540 STK36 Nonsynonymous SNV R839Q 0.002 0.005 0.003 5 2 2 0.013 1 0 0 0 0 Benign 22.8 91616 chr12 132380169 132380169 C T rs144096667 ULK1 Synonymous SNV V45V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 91617 chr2 220251042 220251042 C T rs781738602 DNPEP Nonsynonymous SNV R150H 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 35 91618 chr12 309864 309864 C T rs11061915 SLC6A12 Nonsynonymous SNV V222I 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 3.703 91619 chr11 64521496 64521496 G A rs116135678 PYGM Nonsynonymous SNV A277V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 91620 chr11 57193488 57193488 G A rs34799622 SLC43A3 Nonsynonymous SNV P53L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.076 91621 chr11 57235371 57235371 C G rs77129953 RTN4RL2 Synonymous SNV A107A 0.01 0.01 0.003 5 12 4 0.013 1 0 0 0 1 9.879 91622 chr11 57235413 57235413 G A rs11229040 RTN4RL2 Synonymous SNV S121S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.557 91623 chr11 57310327 57310327 A T rs75192176 SMTNL1 Nonsynonymous SNV N71I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 91624 chr12 14849331 14849331 C A rs780575858 GUCY2C Nonsynonymous SNV G18W 0.001 0 0 0 1 0 0 0 0 0 0 0 8.112 91625 chr12 71947064 71947064 G A rs148122019 LGR5 Nonsynonymous SNV V214I 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 25.5 91626 chr11 5776757 5776757 T C rs773675652 OR52N4 Nonsynonymous SNV S263P 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 91627 chr12 402118 402118 T A rs114476959 KDM5A Nonsynonymous SNV E1558V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 25.5 91628 chr11 57886355 57886355 C G rs150246716 OR9I1 Nonsynonymous SNV A188P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.59 91629 chr2 220493959 220493959 G A rs139947594 SLC4A3 Nonsynonymous SNV R104Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 91630 chr11 58170106 58170106 T C rs12279957 OR5B3 Synonymous SNV Q259Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.104 91631 chr11 68478416 68478416 C T rs144793604 TESMIN Synonymous SNV Q420Q 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 7.931 91632 chr11 65325325 65325325 - CAGCAGCAG rs535365850 LTBP3 L35_G36insLLL 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 91633 chr13 111532242 111532244 CTC - rs552936641 ANKRD10 E335del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 91634 chr11 58318646 58318646 G T LPXN Synonymous SNV A106A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.646 91635 chr11 58391538 58391538 A G rs17152779 CNTF Nonsynonymous SNV N49S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 7.365 91636 chr13 113851421 113851421 G A rs144449601 PCID2 Nonsynonymous SNV R113W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.76 91637 chr12 21643218 21643218 T C rs144888414 RECQL Synonymous SNV T103T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.738 91638 chr13 114058432 114058467 TCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC - LOC101928841 R1373_A1384del 0.005 0 0 0 6 0 0 0 0 0 0 0 91639 chr12 51696921 51696921 T A rs956534423 BIN2 Nonsynonymous SNV E30V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 91640 chr13 114150036 114150036 G A rs148736026 TMCO3 Nonsynonymous SNV R47Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.288 91641 chr2 228217260 228217260 C A rs140009845 MFF Synonymous SNV A157A 0.031 0.016 0.024 5 36 6 0.013 7 0 0 0 0 Benign 16.13 91642 chr2 228855901 228855901 C A rs932930044 SPHKAP 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.4 91643 chr12 51888770 51888770 C T rs149750901 SLC4A8 Synonymous SNV H937H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.98 91644 chr12 8197454 8197454 T C rs761035927 FOXJ2 Synonymous SNV F239F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.071 91645 chr12 23818408 23818408 G A SOX5 Nonsynonymous SNV P291S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 29 91646 chr11 5776803 5776803 T C rs200646104 OR52N4 Nonsynonymous SNV I278T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.3 91647 chr12 83250938 83250938 C G rs771632739 TMTC2 Nonsynonymous SNV A78G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 91648 chr13 20763642 20763642 C T rs2274084 GJB2 Nonsynonymous SNV V27I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 16.99 91649 chr11 66099988 66099988 G A rs141538682 RIN1 Nonsynonymous SNV A676V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 91650 chr11 58392044 58392044 G A rs186102199 ZFP91-CNTF 0 0 0.003 0 0 0 0 1 0 0 0 0 2.551 91651 chr12 48888608 48888608 G T rs1052300938 C12orf54 Nonsynonymous SNV M90I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.232 91652 chr12 2788637 2788637 G A rs147896322 CACNA1C Nonsynonymous SNV V1715I 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 24 91653 chr12 27916192 27916192 G A rs376003656 MANSC4 Synonymous SNV L168L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.329 91654 chr11 58949400 58949400 G A rs200498275 DTX4 Nonsynonymous SNV V28I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 91655 chr12 49435112 49435112 C T rs763357891 KMT2D Synonymous SNV A2147A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.48 91656 chr12 49725063 49725063 T A rs746700487 TROAP Nonsynonymous SNV I722N 0.003 0 0 0 3 0 0 0 0 0 0 0 31 91657 chr12 2973570 2973570 C G rs28990714 FOXM1 Synonymous SNV S379S 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 Benign 15.62 91658 chr11 59271100 59271103 ACTC - rs367593673 OR4D11 T18Nfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 91659 chr11 67377044 67377046 GGC - NDUFV1 G141del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 91660 chr11 59283295 59283295 C T rs148987496 OR4D9 Nonsynonymous SNV R304W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 91661 chr11 59382954 59382954 C A rs550652114 OSBP Nonsynonymous SNV A62S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 91662 chr2 234590620 234590620 T C UGT1A7 Nonsynonymous SNV Y13H 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.028 91663 chr11 5988913 5988913 A G rs141209218 OR56A5 Nonsynonymous SNV I271T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.822 91664 chr11 60620272 60620272 G T rs41459145 PTGDR2 Stop gain C308X 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 37 91665 chr11 6806428 6806428 C T rs777197603 OR2AG1 Nonsynonymous SNV R54W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.03 91666 chr11 6806546 6806546 C T rs145208446 OR2AG1 Nonsynonymous SNV S93F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 91667 chr11 60170462 60170462 C A rs140270120 MS4A14 Stop gain Y115X 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 91668 chr12 333193 333193 C T rs577294 SLC6A13 Nonsynonymous SNV V334I 0.011 0.01 0.027 2 13 4 0.005 8 0 0 0 0 0.001 91669 chr2 234730815 234730815 C T rs981035382 MROH2A Synonymous SNV F1186F 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.02 91670 chr12 51394128 51394128 T C rs145155499 SLC11A2 Synonymous SNV S164S 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.884 91671 chr2 234858667 234858667 C A rs144339738 TRPM8 Synonymous SNV I339I 0.003 0 0.003 5 3 0 0.013 1 0 0 0 0 22.2 91672 chr2 237489517 237489517 T G rs745896531 ACKR3 Nonsynonymous SNV C137G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 91673 chr2 236659089 236659089 G A rs149931123 AGAP1 Synonymous SNV T210T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.21 91674 chr2 237300650 237300650 C T rs78964459 IQCA1 Nonsynonymous SNV R420H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.071 91675 chr12 55886984 55886984 C T rs141063883 OR6C68 Nonsynonymous SNV L275F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.7 91676 chr2 238253369 238253369 T C COL6A3 Nonsynonymous SNV D1824G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.196 91677 chr11 6129911 6129911 C T rs138861608 OR56B4 Synonymous SNV H301H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.108 91678 chr2 238296472 238296472 G A rs115155458 COL6A3 Synonymous SNV A149A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.3 91679 chr13 37596152 37596152 C G rs74906774 SUPT20H Nonsynonymous SNV V553L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.259 91680 chr12 46243365 46243365 C T rs76994389 ARID2 Nonsynonymous SNV T573M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 91681 chr11 803537 803537 T G PIDD1 Nonsynonymous SNV N116H 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 14.08 91682 chr12 48064029 48064029 T C RPAP3 Nonsynonymous SNV I429V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.012 91683 chr2 241710554 241710554 G A rs372553814 KIF1A Nonsynonymous SNV T417M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.067 91684 chr11 71729276 71729276 G A rs139359161 NUMA1 Nonsynonymous SNV R311C 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 28.5 91685 chr11 71906793 71906793 T C rs144637717 FOLR1 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 91686 chr11 6236084 6236084 T C rs771321247 FAM160A2 Nonsynonymous SNV Y758C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 91687 chr2 241683449 241683449 A G rs35698242 KIF1A Nonsynonymous SNV I1064T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 91688 chr11 85431954 85431954 G T rs74547795 SYTL2 Nonsynonymous SNV A503D 0.005 0.003 0.017 3 6 1 0.008 5 0 0 0 0 Benign 21.9 91689 chr11 62416751 62416751 A G rs187940318 INTS5 Synonymous SNV S267S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.734 91690 chr12 58002889 58002889 C T rs978568996 DTX3 Nonsynonymous SNV T336I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.255 91691 chr12 58006903 58006903 C G rs145779061 ARHGEF25 Nonsynonymous SNV D96E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.49 91692 chr2 241826541 241826541 A G rs201805293 MAB21L4 Synonymous SNV S430S 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 2.69 91693 chr11 73744968 73744968 C T rs192323211 C2CD3 Synonymous SNV T2079T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.24 91694 chr13 111367894 111367894 G T ING1 Nonsynonymous SNV R35L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 91695 chr2 242054439 242054439 G A rs200386713 PASK Nonsynonymous SNV R1118C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 91696 chr11 63233789 63233789 C T rs142252228 PLAAT5 Synonymous SNV V180V 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.92 91697 chr13 113729350 113729350 C T rs143909527 MCF2L Synonymous SNV G347G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 91698 chr11 74521319 74521319 A G RNF169 Nonsynonymous SNV M223V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.33 91699 chr12 49488216 49488216 C T rs779682957 DHH Nonsynonymous SNV R27Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 33 91700 chr12 50100895 50100895 G A rs377569512 FMNL3 Synonymous SNV P23P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 18.44 91701 chr11 74911293 74911293 G A rs143480565 SLCO2B1 Nonsynonymous SNV V398M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 91702 chr11 75277661 75277661 G A rs139127426 SERPINH1 Synonymous SNV T89T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.77 91703 chr13 52542666 52542666 C T rs187046823 ATP7B Nonsynonymous SNV E541K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 5.93 91704 chr11 75298468 75298468 A C rs61895095 MAP6 Nonsynonymous SNV V693G 0.054 0.039 0.031 19 63 15 0.049 9 1 1 1 0 0.009 91705 chr12 50744581 50744581 A T rs73108300 FAM186A Nonsynonymous SNV F2012I 0.039 0.049 0.051 19 46 19 0.049 15 1 0 1 1 15.91 91706 chr13 67801997 67801997 G T rs138108492 PCDH9 Synonymous SNV I192I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.339 91707 chr11 6413366 6413366 C T rs72896268 SMPD1 Nonsynonymous SNV P37L 0.006 0.021 0.027 0 7 8 0 8 0 0 0 0 Benign/Likely benign 17.9 91708 chr11 64217454 64217454 C T rs553861316 LINC02724 0 0 0.01 0 0 0 0 3 0 0 0 0 6.521 91709 chr13 21729952 21729952 - GGAG SKA3 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 91710 chr11 64435125 64435125 T G NRXN2 Synonymous SNV L434L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.037 91711 chr13 77460023 77460023 G A rs73237446 KCTD12 Synonymous SNV F87F 0.013 0.016 0.007 4 15 6 0.01 2 0 0 0 0 Benign 10.43 91712 chr13 78320801 78320801 C G rs144139933 SLAIN1 Nonsynonymous SNV P71A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 91713 chr12 56600528 56600528 C T rs703822 RNF41 Synonymous SNV S219S 0.009 0.016 0.007 2 10 6 0.005 2 0 0 0 0 16.99 91714 chr12 52652029 52652029 G A rs113367215 KRT87P 0.032 0.023 0.027 5 38 9 0.013 8 2 0 1 0 15.32 91715 chr12 69264098 69264098 A G rs137903237 CPM Synonymous SNV T171T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 91716 chr3 9991281 9991281 C T PRRT3 Synonymous SNV Q173Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 1.614 91717 chr11 65211735 65211742 TGTGTGTG - NEAT1 0 0 0.014 0 0 0 0 4 0 0 2 0 91718 chr11 65265942 65265942 A G rs141995771 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.964 91719 chr12 52761000 52761000 G T rs200758226 KRT85 Nonsynonymous SNV P64T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.682 91720 chr12 57112348 57112348 G A rs199520749 NACA Nonsynonymous SNV P989L 0.004 0 0 0 5 0 0 0 0 0 0 0 4.46 91721 chr12 52961964 52961964 G T rs780135764 KRT74 Synonymous SNV G448G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 91722 chr12 57590901 57590901 G A LRP1 Nonsynonymous SNV G3010D 0.003 0 0 0 4 0 0 0 0 0 0 0 32 91723 chr13 28626755 28626755 C T rs750445891 FLT3 Nonsynonymous SNV A181T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.1 91724 chr14 100820863 100820863 G C WARS1 Nonsynonymous SNV P114A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 91725 chr13 28771445 28771445 A G PAN3 Nonsynonymous SNV M272V 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 11.15 91726 chr12 75816849 75816849 A G GLIPR1L2 Synonymous SNV L250L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 4.306 91727 chr13 29007989 29007989 C T rs56405013 FLT1 Synonymous SNV T260T 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 Benign 16.73 91728 chr12 57921358 57921358 G C rs138777973 MBD6 Synonymous SNV P717P 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 7.69 91729 chr11 65628875 65628875 G A rs368564921 MUS81 Nonsynonymous SNV R107Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.524 91730 chr14 102470980 102470980 A G rs758191823 DYNC1H1 Nonsynonymous SNV N1670S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.487 91731 chr13 31495158 31495158 G A rs41291239 MEDAG Synonymous SNV T132T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.98 91732 chr12 53232924 53232924 C T rs140251181 KRT78 Synonymous SNV S402S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.23 91733 chr12 53292527 53292527 C T rs56997521 KRT8 Nonsynonymous SNV V380I 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 Likely benign 23.5 91734 chr3 14724664 14724664 C T rs34211414 C3orf20 Synonymous SNV L26L 0.003 0.01 0.003 5 3 4 0.013 1 0 0 0 0 14.73 91735 chr11 65819931 65819931 G T rs11554199 SF3B2 Nonsynonymous SNV A26S 0.013 0.01 0.014 6 15 4 0.015 4 1 0 0 0 Benign 24 91736 chr11 65788324 65788324 G A CATSPER1 Synonymous SNV L629L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.677 91737 chr12 53343099 53343099 G C KRT18 Nonsynonymous SNV V48L 0.003 0.008 0 8 4 3 0.021 0 0 0 0 0 16.43 91738 chr12 63544322 63544322 C G AVPR1A Nonsynonymous SNV A99P 0.003 0 0 0 4 0 0 0 0 0 0 0 25.2 91739 chr12 6437070 6437070 G A rs374620511 PLEKHG6 Nonsynonymous SNV R742Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 33 91740 chr11 66392670 66392670 C T rs997072024 RBM14 Synonymous SNV A441A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.336 91741 chr12 85677534 85677534 C T ALX1 Synonymous SNV T137T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.99 91742 chr13 37393791 37393791 G C rs183370317 RFXAP Synonymous SNV P99P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 4.673 91743 chr11 66101572 66101572 C T rs749896352 RIN1 Nonsynonymous SNV R442H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 91744 chr12 65269437 65269437 C T rs777613012 TBC1D30 Nonsynonymous SNV R695W 0.003 0 0 0 4 0 0 0 0 0 0 0 34 91745 chr3 17446447 17446447 G A rs34457748 TBC1D5 Nonsynonymous SNV L95F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 28.4 91746 chr12 53457585 53457585 C T rs117928258 TNS2 Synonymous SNV L1393L 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign 13.96 91747 chr11 67378884 67378884 G A NDUFV1 Synonymous SNV T299T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 91748 chr11 6737979 6737979 T C rs11040982 GVINP1 0 0 0.122 0 0 0 0 36 0 0 0 0 8.376 91749 chr3 19498438 19498438 C A KCNH8 Nonsynonymous SNV D668E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 91750 chr12 104379507 104379507 G T rs762057949 TDG 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 91751 chr12 104379508 104379508 - G rs749286024 TDG 0 0 0 1 0 0 0.003 0 0 0 0 0 91752 chr12 105428125 105428125 G A rs370881324 ALDH1L2 Nonsynonymous SNV R733W 0 0 0 4 0 0 0.01 0 0 0 0 0 34 91753 chr3 26751871 26751871 C T rs199869814 LRRC3B Synonymous SNV L236L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.06 91754 chr13 41134792 41134792 G A rs377728010 FOXO1 Nonsynonymous SNV S279F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 91755 chr3 27463176 27463176 G C SLC4A7 Nonsynonymous SNV A326G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 91756 chr13 42873915 42873915 A G rs150533586 AKAP11 Nonsynonymous SNV I345V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.045 91757 chr13 42874434 42874434 A G rs141392488 AKAP11 Nonsynonymous SNV I518V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 91758 chr12 55863244 55863244 G A rs149166293 OR6C70 Nonsynonymous SNV P227S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 91759 chr3 35835320 35835320 C T rs149388106 ARPP21 Nonsynonymous SNV P751L 0.003 0 0 0 4 0 0 0 0 0 0 0 29.5 91760 chr3 36422173 36422173 A C rs149680537 STAC Nonsynonymous SNV D13A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 22.9 91761 chr3 38163204 38163204 A C rs774696235 DLEC1 Nonsynonymous SNV Q1654P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.8 91762 chr14 105457936 105457936 C T rs377284826 CLBA1 Synonymous SNV L226L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 9.1 91763 chr11 67434400 67434400 - CTT ALDH3B2 K2_D3insK 0.002 0.003 0 0 2 1 0 0 0 0 0 0 91764 chr3 38040402 38040402 G C rs764280163 VILL 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 91765 chr3 38350507 38350507 G A rs529640267 SLC22A14 Nonsynonymous SNV A280T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.767 91766 chr11 93535074 93535074 A C MED17 Nonsynonymous SNV N468H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 91767 chr14 20345275 20345275 C T rs74597543 OR4K2 Synonymous SNV N283N 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 0.024 91768 chr13 46542006 46542006 C T rs756061671 ZC3H13 Synonymous SNV T1318T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.94 91769 chr3 38537890 38537890 G C EXOG Nonsynonymous SNV R11P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 91770 chr3 39174562 39174562 G A rs762653694 TTC21A Nonsynonymous SNV R820Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 91771 chr13 48523627 48523627 G A SUCLA2 Nonsynonymous SNV R407W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 91772 chr12 56848039 56848039 G A rs375320892 MIP Nonsynonymous SNV T120M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 91773 chr12 75672767 75672767 G A rs150487629 CAPS2 Nonsynonymous SNV S446L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 20.6 91774 chr13 101936351 101936351 G A rs771917442 NALCN Nonsynonymous SNV A356V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23 91775 chr12 76740328 76740328 T C rs201701959 BBS10 Synonymous SNV A479A 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.019 91776 chr12 57922209 57922209 C T rs200356881 MBD6 Nonsynonymous SNV R896C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 91777 chr11 72019641 72019641 C T rs146912721 CLPB Synonymous SNV R303R 0.008 0 0.003 3 9 0 0.008 1 0 0 0 0 Benign 13.27 91778 chr12 60169199 60169199 G A rs374598377 SLC16A7 Nonsynonymous SNV V375I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 91779 chr13 77670558 77670558 T A rs1048418668 MYCBP2 Synonymous SNV G3281G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.23 91780 chr11 73008059 73008059 G A rs201755173 P2RY6 Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 91781 chr11 77090368 77090368 T C rs115947709 PAK1 Synonymous SNV K119K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.377 91782 chr3 43618491 43618491 C T rs201848805 ANO10 Synonymous SNV R174R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.41 91783 chr14 21972019 21972019 G A rs139460746 METTL3 Nonsynonymous SNV R36W 0.011 0.003 0 0 13 1 0 0 0 0 0 0 24.1 91784 chr13 111158787 111158787 G A rs371857202 COL4A2 Synonymous SNV P1476P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 13.36 91785 chr14 22038172 22038172 C T rs143884236 OR10G3 Nonsynonymous SNV R235Q 0.026 0.018 0.007 5 30 7 0.013 2 0 0 0 0 25 91786 chr12 106734702 106734702 C G rs202158755 TCP11L2 Nonsynonymous SNV A414G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 91787 chr12 117962878 117962878 C T rs201087007 KSR2 Synonymous SNV L666L 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 11.22 91788 chr12 107372063 107372063 T C rs757371982 MTERF2 Nonsynonymous SNV K144E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.227 91789 chr14 23240710 23240710 C G rs774769531 OXA1L Nonsynonymous SNV I417M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 91790 chr12 108920173 108920173 G A rs116326373 SART3 Synonymous SNV D691D 0.017 0.016 0.02 1 20 6 0.003 6 0 0 0 0 Benign 2.62 91791 chr14 23345133 23345133 G A rs138170865 LRP10 Nonsynonymous SNV G326S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 91792 chr13 114058360 114058467 TCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC - LOC101928841 R1349_A1384del 0.013 0.013 0 0 15 5 0 0 2 1 0 0 91793 chr14 23355311 23355311 C T rs145460263 REM2 Stop gain R200X 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 38 91794 chr13 114077231 114077231 A C rs148756611 ADPRHL1 Nonsynonymous SNV L324R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.27 91795 chr12 109198832 109198832 G A rs140151008 SSH1 Synonymous SNV L329L 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Benign 17.01 91796 chr12 66786159 66786159 G A rs200363939 GRIP1 Nonsynonymous SNV T746M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 91797 chr12 109694021 109694021 C T rs757154700 ACACB Synonymous SNV T2081T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.28 91798 chr3 47651624 47651624 G A SMARCC1 Nonsynonymous SNV P992L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 91799 chr12 6925407 6925407 C T rs28919570 CD4 Nonsynonymous SNV R86W 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.506 91800 chr14 103806850 103806850 G A rs1804617 EIF5 Synonymous SNV E386E 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 11.59 91801 chr12 96370473 96370473 C T rs376855010 HAL Nonsynonymous SNV E348K 0.007 0.008 0 0 8 3 0 0 2 0 0 0 29.7 91802 chr11 77413194 77413196 AGA - rs763291250 RSF1 S360del 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 91803 chr3 48622995 48622995 C T rs149881350 COL7A1 Nonsynonymous SNV E1297K 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 24.2 91804 chr13 21395870 21395870 A G rs187523400 XPO4 Synonymous SNV F382F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 0.427 91805 chr3 49365133 49365133 G T rs140278994 USP4 Nonsynonymous SNV P116T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 91806 chr14 24572932 24572932 G A rs111723834 PCK2 Nonsynonymous SNV R427Q 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 34 91807 chr3 49691074 49691074 C T BSN Nonsynonymous SNV S1362F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 91808 chr14 104642190 104642190 G A rs781111572 KIF26A Nonsynonymous SNV R1022Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 91809 chr12 9906146 9906146 T C rs117419783 CD69 Synonymous SNV K177K 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 Benign 0.002 91810 chr12 111729350 111729350 C T rs200363695 CUX2 Nonsynonymous SNV P82S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 7.234 91811 chr14 24795302 24795302 C T rs766610373 ADCY4 Synonymous SNV E546E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 91812 chr13 23912806 23912806 T C SACS Nonsynonymous SNV K1590E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.6 91813 chr12 123489036 123489036 G A rs201868076 PITPNM2 Nonsynonymous SNV A318V 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 17.53 91814 chr11 92532854 92532854 G A rs187450713 FAT3 Synonymous SNV G2225G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.862 91815 chr13 100622676 100622676 C T rs201752549 ZIC5 Synonymous SNV P418P 0.031 0.013 0.031 3 36 5 0.008 9 0 0 0 0 10.6 91816 chr13 24823832 24823832 C A rs201659176 SPATA13 Nonsynonymous SNV A624E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 91817 chr11 93148179 93148179 T C rs61747195 DEUP1 Nonsynonymous SNV C513R 0.002 0.013 0.017 5 2 5 0.013 5 0 0 0 0 0.319 91818 chr12 124094552 124094552 G C rs376035037 DDX55 Synonymous SNV T206T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 10.17 91819 chr11 93416787 93416787 A G rs572605034 CEP295 Synonymous SNV R276R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.644 91820 chr14 105359965 105359965 G C rs200856973 CEP170B Nonsynonymous SNV A1347P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 9.497 91821 chr12 124272442 124272442 A T rs200629703 DNAH10 Nonsynonymous SNV I505L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 25.1 91822 chr12 7527309 7527309 G A rs151223451 CD163L1 Synonymous SNV A1056A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 91823 chr3 51746880 51746880 C T rs749310386 GRM2 Nonsynonymous SNV A281V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 91824 chr13 25831883 25831883 G A rs9511729 MTMR6 Synonymous SNV F320F 0.015 0.016 0.027 3 18 6 0.008 8 0 0 0 0 11.89 91825 chr11 94199728 94199728 C G MIR548L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.518 91826 chr3 52417940 52417940 A G rs61734631 DNAH1 Nonsynonymous SNV I2739V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 27 91827 chr14 105692616 105692616 G A rs117732489 BRF1 Synonymous SNV V71V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 12.78 91828 chr12 7596713 7596713 G A rs115154477 CD163L1 Nonsynonymous SNV P4L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 91829 chr14 105695168 105695168 C T rs140779507 BRF1 Synonymous SNV T21T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.99 91830 chr12 7632533 7632533 G T rs74056488 CD163 Nonsynonymous SNV L1103I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 91831 chr12 7640395 7640395 C T rs61729510 CD163 Nonsynonymous SNV S570N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.63 91832 chr3 48576030 48576030 T C PFKFB4 Nonsynonymous SNV D178G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 91833 chr12 12491405 12491405 C T rs374905258 MANSC1 Nonsynonymous SNV A105T 0 0 0 3 0 0 0.008 0 0 0 0 0 32 91834 chr3 52858219 52858219 G A rs112056587 ITIH4 Synonymous SNV G386G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15 91835 chr3 52964423 52964423 A G rs35757171 SFMBT1 Synonymous SNV H273H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 6.691 91836 chr3 53212506 53212506 C T rs144572650 PRKCD Nonsynonymous SNV A42V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 3.052 91837 chr12 7894080 7894080 A C rs113848396 CLEC4C Nonsynonymous SNV L58V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.797 91838 chr12 7967130 7967130 A G rs74058901 SLC2A14 Nonsynonymous SNV Y340H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 91839 chr12 101018061 101018061 C T rs61748063 GAS2L3 Nonsynonymous SNV S493L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 0.023 91840 chr3 49845258 49845258 G A rs755085168 UBA7 Nonsynonymous SNV R876W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.5 91841 chr3 50155829 50155829 C T rs771261534 RBM5 Synonymous SNV A796A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.64 91842 chr12 8290881 8290881 T C rs74810750 CLEC4A X166R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 22.1 91843 chr11 9225397 9225397 G C rs754860994 DENND5A Synonymous SNV L229L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.083 91844 chr13 113773050 113773050 G T F7 Nonsynonymous SNV V293L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 91845 chr13 39587763 39587763 C T rs35453341 PROSER1 Synonymous SNV P520P 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 13.35 91846 chr12 106634088 106634088 T C rs910903471 CKAP4 Nonsynonymous SNV I175V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 91847 chr3 52324982 52324982 G C rs150662353 GLYCTK Nonsynonymous SNV M128I 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 Likely benign 19.65 91848 chr12 89919703 89919703 G A rs200496430 POC1B-GALNT4 Nonsynonymous SNV P77L 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 8.017 91849 chr12 89998019 89998019 A G rs35349730 ATP2B1 Synonymous SNV Y662Y 0.011 0.01 0.017 7 13 4 0.018 5 0 0 0 0 Benign 0.633 91850 chr13 43896595 43896595 G A rs1011586241 ENOX1 Nonsynonymous SNV R431C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 91851 chr3 52547238 52547238 A G rs771989070 STAB1 Nonsynonymous SNV E1084G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 91852 chr3 52557772 52557772 C T rs751520365 STAB1 Synonymous SNV P2465P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.058 91853 chr3 78663947 78663947 C T rs181957931 ROBO1 Nonsynonymous SNV R1329H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 91854 chr12 109017607 109017607 C T rs141750417 SELPLG Synonymous SNV T175T 0 0 0.007 0 0 0 0 2 0 0 0 0 9.485 91855 chr13 46942355 46942355 C A rs146752948 RUBCNL Star tloss M1? 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.24 91856 chr3 52859916 52859916 C G rs139719930 ITIH4 Nonsynonymous SNV G249R 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.6 91857 chr12 124885207 124885207 G A rs767128868 NCOR2 Synonymous SNV D550D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.8 91858 chr14 23817491 23817491 G A rs35149376 SLC22A17 Synonymous SNV S21S 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 11.33 91859 chr3 53857574 53857574 G A rs147149221 CHDH Synonymous SNV G154G 0.027 0.023 0.01 6 32 9 0.015 3 0 1 0 0 6.399 91860 chr14 23898465 23898465 G A rs150885220 MYH7 Synonymous SNV Y410Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 3.729 91861 chr3 101038480 101038480 A G IMPG2 Synonymous SNV D94D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.743 91862 chr13 53420651 53420651 C T rs151188907 PCDH8 Nonsynonymous SNV A641T 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 21.6 91863 chr12 111872722 111872722 T C rs12371484 SH2B3 Nonsynonymous SNV L6P 0.006 0.008 0.031 4 7 3 0.01 9 0 0 0 0 0.632 91864 chr12 10224096 10224096 C G rs758214516 CLEC1A Nonsynonymous SNV D135H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 91865 chr3 108163559 108163559 C T rs148022324 MYH15 Synonymous SNV Q881Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 12.52 91866 chr14 24780158 24780158 G A rs200978710 LTB4R2 Synonymous SNV A96A 0.009 0.003 0 0 11 1 0 0 0 0 0 0 14.06 91867 chr12 132283582 132283582 G T rs117785622 SFSWAP Nonsynonymous SNV R906S 0.014 0.013 0.003 6 17 5 0.015 1 0 0 0 0 23.1 91868 chr12 113596704 113596704 C T rs371716079 DDX54 Nonsynonymous SNV G876D 0.005 0 0.003 0 6 0 0 1 0 0 0 0 32 91869 chr12 113629386 113629386 C T rs117281669 RITA1 Nonsynonymous SNV R216C 0.008 0 0.007 1 9 0 0.003 2 0 0 0 0 11.18 91870 chr12 113704142 113704142 C A rs117386743 TPCN1 Nonsynonymous SNV A64E 0.008 0 0.007 1 9 0 0.003 2 0 0 0 0 8.105 91871 chr14 31816977 31816977 C T HEATR5A Nonsynonymous SNV D949N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 91872 chr14 64701711 64701711 G C rs780531016 ESR2 Synonymous SNV L370L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.805 91873 chr12 116424290 116424290 C T rs376574569 MED13L Synonymous SNV S1373S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 91874 chr13 103710695 103710695 C T rs200749358 SLC10A2 Nonsynonymous SNV G139R 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Uncertain significance 33 91875 chr13 99092998 99092998 C T rs61749894 FARP1 Nonsynonymous SNV R902C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 91876 chr14 34269775 34269775 C G rs10142034 NPAS3 Synonymous SNV S724S 0.022 0.031 0.037 12 26 12 0.031 11 4 4 4 3 2.161 91877 chr13 111642410 111642410 C A rs1048614735 LINC00431 0.001 0 0 0 1 0 0 0 0 0 0 0 7.959 91878 chr12 16377496 16377496 A G SLC15A5 Synonymous SNV A401A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.657 91879 chr3 120500099 120500099 C T rs145606706 GTF2E1 Nonsynonymous SNV R368C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.3 91880 chr14 73733285 73733285 G A rs61745771 PAPLN Nonsynonymous SNV A1114T 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 Benign 26.6 91881 chr12 122825398 122825398 C T rs61954403 CLIP1 Nonsynonymous SNV E739K 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 27.7 91882 chr12 111748393 111748393 G A rs763069796 CUX2 Nonsynonymous SNV V541M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.6 91883 chr12 123340411 123340411 G A rs61955162 HIP1R Synonymous SNV V363V 0.005 0.01 0.01 8 6 4 0.021 3 0 0 0 0 7.929 91884 chr14 74179759 74179759 T A PNMA1 Nonsynonymous SNV D195V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 91885 chr12 124285920 124285920 C T rs201967312 DNAH10 Nonsynonymous SNV S734F 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 19.42 91886 chr12 124409650 124409650 C A rs775450075 DNAH10 Nonsynonymous SNV N3822K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.002 91887 chr12 45751145 45751145 C T rs145896287 ANO6 Synonymous SNV A312A 0.007 0.005 0.007 6 8 2 0.015 2 0 0 0 0 Benign 16.92 91888 chr12 113865794 113865794 G A rs144641930 SDSL Nonsynonymous SNV G3S 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.001 91889 chr12 125510104 125510104 G A rs1055472 THRIL 0 0 0.014 0 0 0 0 4 0 0 2 0 6.193 91890 chr12 11420958 11420958 T C rs71455362 PRB3 Synonymous SNV P75P 0.009 0.016 0.014 5 11 6 0.013 4 0 0 1 0 0.016 91891 chr13 79191096 79191096 A G rs769906189 OBI1 Nonsynonymous SNV M267T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.078 91892 chr3 124201699 124201699 C T rs61740058 KALRN Synonymous SNV Y1360Y 0.009 0.005 0.017 3 11 2 0.008 5 0 0 0 0 11.11 91893 chr13 88328551 88328551 C T rs113077003 SLITRK5 Nonsynonymous SNV T303M 0.003 0 0 0 3 0 0 0 0 0 0 0 17.4 91894 chr12 12939931 12939931 T A APOLD1 Nonsynonymous SNV L62Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 91895 chr13 95839042 95839042 C T rs11568670 ABCC4 Synonymous SNV S411S 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Likely benign 17.33 91896 chr14 77256972 77256972 C T ANGEL1 Nonsynonymous SNV E612K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 91897 chr13 27333463 27333463 A C rs141417138 GPR12 Nonsynonymous SNV S168A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.37 91898 chr14 105622160 105622160 G A rs142729116 JAG2 Synonymous SNV R214R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 13.01 91899 chr14 77493785 77493785 - TGT rs778015822 IRF2BPL Q127_L128insQ 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 91900 chr14 77493794 77493794 T C rs28718623 IRF2BPL Synonymous SNV Q114Q 0.007 0.01 0 6 8 4 0.015 0 0 0 0 0 0.001 91901 chr12 131487809 131487809 C T rs142314859 ADGRD1 Nonsynonymous SNV T369M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 91902 chr14 20344580 20344580 G A rs116972349 OR4K2 Nonsynonymous SNV D52N 0.019 0.029 0.007 3 22 11 0.008 2 0 0 0 0 12.13 91903 chr3 125726062 125726062 T C rs79696429 SLC41A3 Nonsynonymous SNV I385V 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 11.16 91904 chr13 99505746 99505746 C G rs369442011 DOCK9 Nonsynonymous SNV V1300L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.38 91905 chr12 120661529 120661529 G A rs373525178 PXN Synonymous SNV H116H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.4 91906 chr14 77984480 77984480 G A rs374657234 SPTLC2 Synonymous SNV N490N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.179 91907 chr12 121883218 121883218 C T KDM2B Nonsynonymous SNV V624M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 91908 chr12 49426013 49426013 T C KMT2D Nonsynonymous SNV M4159V 0 0 0 4 0 0 0.01 0 0 0 0 0 0.089 91909 chr12 49689046 49689046 C T rs58403142 PRPH Synonymous SNV F21F 0.02 0.036 0.014 20 24 14 0.051 4 0 0 0 1 not provided 18.45 91910 chr12 49690798 49690798 G A rs62636520 PRPH Nonsynonymous SNV A277T 0.021 0.036 0.014 20 25 14 0.051 4 0 0 0 1 not provided 23.3 91911 chr13 37598323 37598323 A G SUPT20H Synonymous SNV Y480Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.155 91912 chr12 49691226 49691226 C G rs62636517 PRPH Synonymous SNV L361L 0.014 0.023 0.017 14 17 9 0.036 5 0 0 0 1 not provided 16.04 91913 chr12 49743432 49743432 G A rs369039854 DNAJC22 Synonymous SNV E259E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 3.615 91914 chr14 68256245 68256245 C T rs117367857 ZFYVE26 Nonsynonymous SNV M942I 0.014 0.016 0.007 14 16 6 0.036 2 1 0 0 0 Benign/Likely benign 1.974 91915 chr12 46246539 46246539 A G ARID2 Nonsynonymous SNV N1545D 0.001 0 0 0 1 0 0 0 0 0 0 0 25 91916 chr14 104047966 104047966 G C COA8 Nonsynonymous SNV S149T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.196 91917 chr13 43872493 43872493 C G rs138978304 ENOX1 Nonsynonymous SNV G514R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 91918 chr14 70245957 70245957 G A SLC10A1 Nonsynonymous SNV P230S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 91919 chr12 51457626 51457626 G A rs752561947 CSRNP2 Nonsynonymous SNV T512M 0 0 0 4 0 0 0.01 0 0 0 0 0 16.56 91920 chr12 48272840 48272840 G A rs2228572 VDR Synonymous SNV N19N 0.018 0.021 0.01 5 21 8 0.013 3 0 0 0 0 Benign 10.83 91921 chr3 134084660 134084660 C G rs139202377 AMOTL2 Nonsynonymous SNV Q484H 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 26.3 91922 chr3 134086443 134086443 G T AMOTL2 Nonsynonymous SNV Q371K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.502 91923 chr12 48457587 48457587 C G rs779013784 SENP1 Nonsynonymous SNV G438A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.1 91924 chr3 124826536 124826536 C G rs200313431 SLC12A8 Nonsynonymous SNV K498N 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 24.9 91925 chr14 21979265 21979265 C - METTL3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 91926 chr13 49748671 49748671 C T rs373449624 FNDC3A Nonsynonymous SNV S388L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 91927 chr12 12630607 12630607 G A rs112390593 DUSP16 Synonymous SNV S386S 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 0 6.24 91928 chr14 95081328 95081328 G A rs542255755 SERPINA3 Nonsynonymous SNV V184M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 91929 chr12 27820164 27820164 G C rs148024203 PPFIBP1 Nonsynonymous SNV G217R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.69 91930 chr12 129299599 129299599 G A rs144816528 SLC15A4 Nonsynonymous SNV P188L 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 26 91931 chr14 96706813 96706813 G C rs202026817 BDKRB2 Nonsynonymous SNV V50L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 91932 chr14 77787525 77787525 A C GSTZ1 Nonsynonymous SNV K5T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 91933 chr12 131569105 131569105 C T rs11061318 ADGRD1 Nonsynonymous SNV S523L 0.023 0.023 0.024 5 27 9 0.013 7 1 0 0 0 34 91934 chr14 77810133 77810133 C T rs142882254 TMED8 Nonsynonymous SNV D126N 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 34 91935 chr13 60407292 60407292 C T rs371248128 DIAPH3 Synonymous SNV V729V 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 14.59 91936 chr12 132250742 132250742 A G rs145970901 SFSWAP Synonymous SNV K677K 0.006 0.008 0 2 7 3 0.005 0 0 0 0 1 7.114 91937 chr14 23444084 23444084 C T rs61737805 AJUBA Synonymous SNV K45K 0.023 0.018 0.037 6 27 7 0.015 11 0 0 0 0 17.2 91938 chr14 23829369 23829369 G T rs115984700 EFS Nonsynonymous SNV A47D 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 11.73 91939 chr3 153202348 153202348 G A rs3732619 C3orf79 0.008 0.01 0.017 4 9 4 0.01 5 0 0 0 0 0.85 91940 chr12 42629700 42629700 C T rs529702417 YAF2 Synonymous SNV E84E 0 0 0.007 0 0 0 0 2 0 0 0 0 21 91941 chr14 21541322 21541322 G - ARHGEF40 E42Rfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 91942 chr12 46246612 46246612 C T ARID2 Nonsynonymous SNV A1569V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 91943 chr13 97485170 97485170 G A rs139344619 HS6ST3 Synonymous SNV Q378Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.646 91944 chr3 160243765 160243765 G A rs2272490 KPNA4 Synonymous SNV R229R 0.008 0.008 0 8 9 3 0.021 0 0 0 0 1 11.44 91945 chr3 133341959 133341959 T C rs199668337 TOPBP1 Nonsynonymous SNV S1047G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.422 91946 chr14 24898142 24898142 A G CBLN3 Nonsynonymous SNV L40P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.3 91947 chr12 4848444 4848444 C T rs367686870 GALNT8 Nonsynonymous SNV P209S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.4 91948 chr15 32929624 32929624 A G rs34173159 ARHGAP11A Nonsynonymous SNV I695V 0.023 0.016 0.027 15 27 6 0.038 8 0 0 0 0 0.001 91949 chr3 169099050 169099050 G A rs142755875 MECOM Synonymous SNV I100I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 91950 chr3 169485989 169485989 T A rs35419455 ACTRT3 Nonsynonymous SNV Q117L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.81 91951 chr3 169496843 169496843 C G rs150524698 MYNN Nonsynonymous SNV A185G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.356 91952 chr3 169639062 169639062 A G rs60401515 SAMD7 Synonymous SNV Q49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.273 91953 chr3 169846767 169846767 T C rs149473205 PHC3 Nonsynonymous SNV H486R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.79 91954 chr15 33927958 33927958 G A RYR3 Nonsynonymous SNV G1107S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 91955 chr12 18793408 18793408 C A rs564875319 PIK3C2G Nonsynonymous SNV L1369I 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 29.2 91956 chr14 102901213 102901213 A G TECPR2 Nonsynonymous SNV M687V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 91957 chr3 138669343 138669343 G C FOXL2NB Nonsynonymous SNV A153P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.16 91958 chr12 49724664 49724664 C T rs151202383 TROAP Nonsynonymous SNV P679L 0.007 0.01 0.017 5 8 4 0.013 5 0 0 0 0 32 91959 chr14 94582821 94582821 C T rs2227974 IFI27 Nonsynonymous SNV S61F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21 91960 chr14 94935807 94935807 G A rs35347445 SERPINA9 Nonsynonymous SNV P44L 0.01 0.008 0.01 8 12 3 0.021 3 0 0 0 0 21.9 91961 chr12 248163 248163 G A rs782548549 IQSEC3 Nonsynonymous SNV R242Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.081 91962 chr3 148804196 148804196 - G HLTF-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 91963 chr14 105178005 105178005 C T rs79327775 INF2 Nonsynonymous SNV R820W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 23.6 91964 chr12 56078988 56078988 G A rs200390529 ITGA7 Stop gain Q642X 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 42 91965 chr3 150280366 150280366 C T rs770139319 EIF2A Nonsynonymous SNV H46Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.3 91966 chr14 39818076 39818076 A G rs61742363 MIA2 Nonsynonymous SNV R617G 0.021 0.034 0.01 8 25 13 0.021 3 2 0 0 0 23.8 91967 chr12 56631012 56631012 G C rs139208152 SLC39A5 Nonsynonymous SNV G456A 0.002 0.003 0.017 4 2 1 0.01 5 0 0 0 0 17.58 91968 chr14 24791311 24791311 G A rs752634382 ADCY4 Synonymous SNV H849H 0.003 0.01 0 0 3 4 0 0 0 0 0 0 12.6 91969 chr12 53589950 53589950 G C rs140683557 ITGB7 Nonsynonymous SNV L284V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 91970 chr14 24841717 24841717 G A rs150267620 NFATC4 Nonsynonymous SNV V423I 0.013 0.018 0.007 2 15 7 0.005 2 0 0 0 0 23.5 91971 chr14 24899950 24899950 G T KHNYN Nonsynonymous SNV G46V 0.003 0.01 0 0 3 4 0 0 0 0 0 0 24.1 91972 chr12 56982089 56982089 G A rs778580679 RBMS2 Synonymous SNV T358T 0 0 0 4 0 0 0.01 0 0 0 0 0 9.945 91973 chr14 45711382 45711382 G A rs118164944 MIS18BP1 Nonsynonymous SNV P333L 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 0.003 91974 chr14 24974853 24974853 C A rs760627071 CMA1 Nonsynonymous SNV G94C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 91975 chr12 57113172 57113172 G A rs7133373 NACA Synonymous SNV P714P 0.007 0.005 0.007 3 8 2 0.008 2 1 0 0 0 10.44 91976 chr14 105615359 105615359 G A rs145041298 JAG2 Synonymous SNV G569G 0.003 0 0 6 4 0 0.015 0 0 0 0 0 3.715 91977 chr15 41795232 41795232 C G rs748761254 ITPKA Synonymous SNV G418G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.02 91978 chr15 101110238 101110238 A G rs144513217 LINS1 Synonymous SNV C493C 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.513 91979 chr12 550133 550133 C T rs377326847 CCDC77 Synonymous SNV L399L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.23 91980 chr3 157160705 157160705 G A rs759015779 PTX3 Synonymous SNV G361G 0.003 0 0 4 3 0 0.01 0 0 0 0 0 8.586 91981 chr12 55359926 55359926 G A rs763383073 TESPA1 Synonymous SNV L119L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.429 91982 chr12 57618853 57618853 G A rs201872894 NXPH4 Nonsynonymous SNV G84R 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 23.1 91983 chr15 42041774 42041774 C T rs773653972 MGA Nonsynonymous SNV T1781M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.09 91984 chr12 57648644 57648644 C T rs78607331 R3HDM2 Nonsynonymous SNV R930H 0.031 0.044 0.037 12 36 17 0.031 11 2 1 0 0 24.5 91985 chr15 42170577 42170577 G C rs202051725 SPTBN5 Nonsynonymous SNV Q1145E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 91986 chr12 39735848 39735848 A G rs764327954 KIF21A Synonymous SNV N584N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.199 91987 chr15 28211925 28211925 A G OCA2 Nonsynonymous SNV I492T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.3 91988 chr14 53529900 53529900 C T rs201393353 DDHD1 Synonymous SNV E509E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 91989 chr15 42618531 42618531 T A rs2578652 GANC Nonsynonymous SNV D443E 0.042 0.026 0.034 15 49 10 0.038 10 1 0 0 1 24.6 91990 chr12 53849139 53849139 C T PCBP2 Synonymous SNV G26G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 91991 chr12 55002409 55002409 G A rs11170988 GLYCAM1 0 0 0.102 0 0 0 0 30 0 0 12 0 2.821 91992 chr12 57397033 57397033 C T rs61752546 ZBTB39 Nonsynonymous SNV V557I 0.011 0.026 0.02 6 13 10 0.015 6 0 0 0 0 19.01 91993 chr14 58604811 58604811 C T rs61745856 ARMH4 Synonymous SNV T422T 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 11.17 91994 chr15 33446807 33446807 G A FMN1 Synonymous SNV S103S 0.003 0 0 0 3 0 0 0 0 0 0 0 4.804 91995 chr15 43244614 43244614 T C rs373539628 UBR1 Nonsynonymous SNV H1623R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 91996 chr14 58832019 58832019 G A rs62621193 ARID4A 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 91997 chr15 43290450 43290450 C A rs117347582 UBR1 Nonsynonymous SNV A1225S 0.001 0 0 0 1 0 0 0 0 0 0 0 22 91998 chr15 43527755 43527755 G T rs377644850 TGM5 Nonsynonymous SNV N460K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 91999 chr3 183853199 183853199 C T rs996228280 EIF2B5 Nonsynonymous SNV P9L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 92000 chr12 48458975 48458975 T C rs780934653 SENP1 Nonsynonymous SNV H383R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.955 92001 chr14 52923820 52923820 T C rs61744423 TXNDC16 Nonsynonymous SNV D559G 0.012 0.013 0.003 4 14 5 0.01 1 0 0 0 0 24.7 92002 chr3 196199246 196199246 T C rs35774921 RNF168 Nonsynonymous SNV K387R 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 14.13 92003 chr15 40590776 40590776 G A PLCB2 Synonymous SNV N328N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.934 92004 chr3 196387607 196387607 A C rs62636590 NRROS Nonsynonymous SNV M365L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 92005 chr15 40661272 40661272 C G rs144947879 DISP2 Nonsynonymous SNV P987A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.184 92006 chr14 64580122 64580122 C T rs149296737 SYNE2 Nonsynonymous SNV P4225S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 92007 chr12 58090137 58090137 C T rs781445840 OS9 Nonsynonymous SNV P128L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 92008 chr12 49432592 49432592 G A rs368381758 KMT2D Synonymous SNV A2849A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 0.013 92009 chr14 64989717 64989717 G A rs769976585 ZBTB1 Nonsynonymous SNV E499K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.6 92010 chr4 367645 367645 T C rs137931151 ZNF141 Synonymous SNV H397H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.223 92011 chr12 50189026 50189026 C T rs777712359 NCKAP5L Nonsynonymous SNV G873S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.8 92012 chr12 64706504 64706504 T C C12orf56 Nonsynonymous SNV Y308C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.075 92013 chr14 65237750 65237750 G A rs148337824 SPTB Nonsynonymous SNV A1884V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Uncertain significance 23.7 92014 chr12 50501413 50501413 G A rs751127919 GPD1 Nonsynonymous SNV A203T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 92015 chr15 41865543 41865543 G A rs116540200 TYRO3 Nonsynonymous SNV G630R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 33 92016 chr3 193185128 193185128 A G rs138509256 ATP13A4 Nonsynonymous SNV V364A 0.009 0.005 0.034 5 10 2 0.013 10 0 0 1 0 10.8 92017 chr15 52902491 52902491 A G rs61731677 FAM214A Nonsynonymous SNV V214A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.1 92018 chr3 193272445 193272446 GT - ATP13A4-AS1 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 92019 chr12 670521 670521 G A rs116716626 B4GALNT3 Synonymous SNV A967A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.567 92020 chr14 24647830 24647830 G A rs200926587 REC8 Nonsynonymous SNV E338K 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 12.5 92021 chr12 51382162 51382162 T C SLC11A2 Synonymous SNV V540V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 9.605 92022 chr14 24780915 24780915 A T rs148153989 LTB4R2 Nonsynonymous SNV M349L 0.004 0.005 0 6 5 2 0.015 0 0 0 0 0 0.636 92023 chr4 1345517 1345517 C A rs138228745 UVSSA Nonsynonymous SNV D148E 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 22.5 92024 chr14 64066529 64066529 A G rs748568353 WDR89 Synonymous SNV A44A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 92025 chr15 42201902 42201902 T C EHD4 Nonsynonymous SNV M362V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 92026 chr14 24885422 24885422 C T rs575303770 NYNRIN Synonymous SNV A1489A 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 11.5 92027 chr15 42375978 42375978 C T rs12442923 PLA2G4D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.2 92028 chr4 1803632 1803632 C T rs142910057 FGFR3 Synonymous SNV D270D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 92029 chr12 52214872 52214872 G A rs149913232 FIGNL2 Synonymous SNV G442G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.25 92030 chr14 73730975 73730975 C T rs370180276 PAPLN Nonsynonymous SNV A973V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.2 92031 chr4 1980561 1980561 C T rs149925711 NSD2 Synonymous SNV P1341P 0.014 0.01 0.01 5 16 4 0.013 3 0 0 0 0 Likely benign 9.604 92032 chr4 2130921 2130921 T C rs150570640 POLN Nonsynonymous SNV T618A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.5 92033 chr3 195594858 195594858 G A rs114272733 TNK2 Synonymous SNV L788L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.028 92034 chr14 75002696 75002696 C T rs144293300 LTBP2 Synonymous SNV P599P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 15.71 92035 chr12 7175782 7175782 C T rs138733003 C1S Synonymous SNV N239N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 4.193 92036 chr12 72050734 72050734 G A rs561382640 ZFC3H1 Nonsynonymous SNV R316C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 92037 chr12 52828015 52828015 G A KRT75 Nonsynonymous SNV P25L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 92038 chr15 63634225 63634225 G A rs144911394 CA12 Synonymous SNV L107L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 10.44 92039 chr12 9020598 9020598 A G rs201478459 A2ML1 Nonsynonymous SNV N802S 0.005 0.008 0 7 6 3 0.018 0 0 0 0 0 Benign/Likely benign 0.014 92040 chr4 436570 436570 A C ZNF721 Nonsynonymous SNV C562W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.5 92041 chr12 53070174 53070174 C A rs17678945 KRT1 Nonsynonymous SNV A454S 0.015 0.023 0.014 7 18 9 0.018 4 0 0 0 0 Benign 26.4 92042 chr4 3432429 3432429 G A rs753087581 RGS12 Synonymous SNV T639T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.416 92043 chr14 77771057 77771057 G A rs375731249 POMT2 Synonymous SNV L175L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 11.39 92044 chr14 77902238 77902238 G A rs148698913 VIPAS39 Synonymous SNV S238S 0.014 0.01 0.007 2 16 4 0.005 2 0 0 0 0 Benign 16.07 92045 chr15 66215266 66215266 G A rs776552624 MEGF11 Nonsynonymous SNV P573S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 92046 chr12 82752037 82752037 T G rs79245219 CCDC59 Nonsynonymous SNV N40T 0.032 0.018 0.027 15 37 7 0.038 8 2 0 1 1 5.203 92047 chr12 82780676 82780676 A G rs56337649 METTL25 Synonymous SNV Q31Q 0.034 0.021 0.034 18 40 8 0.046 10 2 0 1 1 0.251 92048 chr15 68118032 68118032 C T rs116336781 SKOR1 Nonsynonymous SNV A31V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.468 92049 chr15 68120305 68120305 C A rs114784960 SKOR1 Nonsynonymous SNV D713E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 92050 chr12 8290799 8290799 A G rs117126308 CLEC4A Synonymous SNV K138K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.172 92051 chr14 80163976 80163976 G A rs759036787 NRXN3 Nonsynonymous SNV R202Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 92052 chr15 51221295 51221295 G C AP4E1 Nonsynonymous SNV R136P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 92053 chr15 68497597 68497597 G A rs11071990 CALML4 Stop gain R40X 0.007 0.01 0.01 1 8 4 0.003 3 0 0 0 0 25.9 92054 chr15 69733320 69733320 G A rs76148443 KIF23 Nonsynonymous SNV V651M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.4 92055 chr4 2933000 2933000 G A rs749070343 MFSD10 Nonsynonymous SNV P336L 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.357 92056 chr4 2934894 2934894 G A rs758177550 MFSD10 Nonsynonymous SNV A104V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 25.6 92057 chr15 70961649 70961649 T G rs78821209 UACA Nonsynonymous SNV Q445H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 23.3 92058 chr12 99640157 99640157 T C rs180896075 ANKS1B Nonsynonymous SNV N748D 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 13.33 92059 chr13 101315416 101315416 C T rs199964329 TMTC4 Synonymous SNV S99S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.87 92060 chr13 103301809 103301809 G T TPP2 Nonsynonymous SNV L975F 0 0 0 2 0 0 0.005 0 0 0 0 0 12.64 92061 chr15 73996537 73996537 A C rs140663039 CD276 Nonsynonymous SNV M147L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.879 92062 chr12 98849001 98849044 GGAGAGTGGTGGTTAGCGGGGAGCCGCTGTGTCTCCACCAGGCG - rs879763308 SLC9A7P1 0 0 0.054 0 0 0 0 16 0 0 2 0 92063 chr4 10445794 10445794 G T rs144356708 ZNF518B Nonsynonymous SNV S720Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 92064 chr15 59806496 59806496 G T rs111778770 FAM81A Nonsynonymous SNV G220V 0.009 0.005 0.017 2 10 2 0.005 5 0 0 0 0 25.2 92065 chr4 13603981 13603981 T C rs16888885 BOD1L1 Nonsynonymous SNV T1515A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 92066 chr12 96641436 96641436 C T rs769260115 ELK3 Nonsynonymous SNV T309I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.2 92067 chr12 96974709 96974709 C T rs774218768 CFAP54 Synonymous SNV D967D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.21 92068 chr4 6865223 6865223 A G rs200887174 KIAA0232 Synonymous SNV S1038S 0.005 0.01 0 7 6 4 0.018 0 0 0 0 0 0.059 92069 chr15 75649005 75649005 C T rs150383464 MAN2C1 Synonymous SNV P794P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.91 92070 chr12 56548970 56548970 C T rs77682403 MYL6B Nonsynonymous SNV P112S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 27.6 92071 chr14 94849151 94849151 G A rs20546 SERPINA1 Synonymous SNV L142L 0.015 0.01 0.007 11 18 4 0.028 2 0 0 0 0 Benign 1.46 92072 chr4 15707250 15707250 A G rs6840615 BST1 Nonsynonymous SNV I101V 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 Benign 8.148 92073 chr4 16193088 16193088 C A rs778997117 TAPT1 Nonsynonymous SNV V170L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 92074 chr13 111109205 111109205 C G rs9583499 COL4A2-AS2 Nonsynonymous SNV Q289H 0.009 0 0 4 11 0 0.01 0 0 0 0 0 3.411 92075 chr13 111109251 111109251 G A rs370055942 COL4A2-AS2 Nonsynonymous SNV T274M 0.008 0 0 4 9 0 0.01 0 0 0 0 0 4.954 92076 chr12 98926721 98926721 C T rs138790561 TMPO Nonsynonymous SNV T229I 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 Benign/Likely benign 23.5 92077 chr14 92088068 92088068 G T CATSPERB Stop gain S715X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 92078 chr4 24801802 24801802 G T rs770122137 SOD3 Nonsynonymous SNV R220L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.37 92079 chr14 92460176 92460176 C G rs137974620 TRIP11 Nonsynonymous SNV E1712Q 0.007 0.003 0 8 8 1 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 92080 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*65 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 92081 chr14 96904221 96904221 C T rs139741113 AK7 Nonsynonymous SNV A220V 0.011 0.003 0.003 1 13 1 0.003 1 0 0 0 0 13.34 92082 chr4 25671357 25671357 G A rs77356826 SLC34A2 Nonsynonymous SNV E241K 0.001 0 0 0 1 0 0 0 0 0 0 0 21 92083 chr13 103286325 103286325 A G rs146267750 TPP2 Nonsynonymous SNV I424V 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Uncertain significance 10.38 92084 chr4 13603827 13603827 C T rs142789702 BOD1L1 Nonsynonymous SNV G1566E 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 24.3 92085 chr13 111521298 111521298 A C rs927880 LINC00346 0 0 0.082 0 0 0 0 24 0 0 12 0 0.806 92086 chr13 113201852 113201852 - TGGGAAAGTCGCGCG TUBGCP3 P416_M417insTRDFP 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 92087 chr15 83349864 83349864 C G rs202130220 AP3B2 Synonymous SNV T164T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 92088 chr14 94750368 94750368 C T SERPINA10 Nonsynonymous SNV M423I 0.003 0 0 3 4 0 0.008 0 0 0 0 0 7.738 92089 chr4 38776925 38776925 T C rs138645932 TLR10 Nonsynonymous SNV K96R 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 5.465 92090 chr14 68352672 68352672 A G rs28910275 RAD51B Nonsynonymous SNV Y180C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 18.52 92091 chr4 20490493 20490493 C T rs117793863 SLIT2 Synonymous SNV S221S 0.015 0.018 0.007 3 18 7 0.008 2 0 0 0 0 10.69 92092 chr14 70039804 70039806 GCG - rs375620132 CCDC177 A180del 0.009 0 0.007 4 11 0 0.01 2 5 0 1 2 92093 chr4 39216240 39216240 G A rs75964850 WDR19 Nonsynonymous SNV V144I 0.017 0.036 0.027 10 20 14 0.026 8 1 1 0 0 Benign 17.36 92094 chr13 109793559 109793559 G T rs906428729 MYO16 Nonsynonymous SNV A1667S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.409 92095 chr12 64815144 64815144 A G rs141202142 XPOT Nonsynonymous SNV I325V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 0.02 92096 chr4 39448302 39448302 C G rs147916209 KLB Synonymous SNV P652P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.623 92097 chr4 39899979 39899979 G C rs73229703 PDS5A Synonymous SNV L600L 0.014 0.008 0.024 4 16 3 0.01 7 0 0 0 0 1.33 92098 chr13 20539414 20539414 T A rs539406134 ZMYM2 Nonsynonymous SNV L17I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.34 92099 chr15 72642905 72642905 C T rs117513345 HEXA Synonymous SNV V253V 0.014 0.005 0 10 17 2 0.026 0 0 0 0 0 Benign/Likely benign 17.99 92100 chr15 85679798 85679798 G C rs768451736 PDE8A Nonsynonymous SNV V717L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 92101 chr4 40776425 40776425 G A rs772115271 NSUN7 Nonsynonymous SNV C211Y 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.207 92102 chr15 33260922 33260922 C T rs374834879 FMN1 Nonsynonymous SNV D771N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 19.38 92103 chr15 86124824 86124824 G A rs115468498 AKAP13 Synonymous SNV E1175E 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 Benign 3.532 92104 chr14 75002697 75002697 G A rs139018077 LTBP2 Nonsynonymous SNV P599L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 22.8 92105 chr13 28494372 28494372 C A rs192902098 PDX1 Nonsynonymous SNV P33T 0.001 0.005 0.007 5 1 2 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 92106 chr13 114537644 114537644 A G rs767996204 GAS6 Synonymous SNV D238D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.935 92107 chr13 30784500 30784500 G A rs753628719 KATNAL1 Synonymous SNV A409A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 15.48 92108 chr4 39523001 39523001 C A rs147584374 UGDH Synonymous SNV A44A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.4 92109 chr13 21619893 21619893 C T rs147129744 LATS2 Synonymous SNV S91S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 92110 chr4 41621413 41621413 C G LIMCH1 Nonsynonymous SNV S143R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.7 92111 chr13 32885632 32885632 C T ZAR1L Nonsynonymous SNV R144H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.174 92112 chr4 57250416 57250416 C T rs773556845 AASDH Nonsynonymous SNV R17K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.592 92113 chr15 89870178 89870178 C A rs61752783 POLG Nonsynonymous SNV G517V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.915 92114 chr4 46388119 46388119 G A rs75636490 GABRA2 Nonsynonymous SNV T21M 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Likely benign 8.576 92115 chr13 33017698 33017698 T C rs769172013 N4BP2L2 Nonsynonymous SNV I311V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 92116 chr15 33261319 33261319 T C rs61740952 FMN1 Synonymous SNV A638A 0.014 0.008 0 4 16 3 0.01 0 0 0 0 0 Likely benign 0.006 92117 chr13 37014200 37014200 A G CCNA1 Synonymous SNV K325K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 92118 chr13 38143472 38143472 A G rs75157793 POSTN Nonsynonymous SNV F712S 0.018 0.018 0.024 1 21 7 0.003 7 0 0 0 0 Benign 23.4 92119 chr12 79685814 79685814 T C rs34404568 SYT1 Synonymous SNV T126T 0.02 0.013 0.007 6 23 5 0.015 2 0 0 0 0 Benign 3.726 92120 chr13 39265512 39265512 G A rs143044921 FREM2 Nonsynonymous SNV R1344H 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign/Likely benign 22.6 92121 chr4 69095002 69095002 T C rs138529729 TMPRSS11B Nonsynonymous SNV T307A 0.002 0 0 0 2 0 0 0 0 0 0 0 22 92122 chr13 41133887 41133887 C T rs755827604 FOXO1 Nonsynonymous SNV V581M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 92123 chr13 39433637 39433637 C T rs143571375 FREM2 Nonsynonymous SNV R2477W 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 Uncertain significance 27.8 92124 chr13 41767589 41767589 G A rs148638355 KBTBD7 Nonsynonymous SNV H269Y 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 19.39 92125 chr13 41814531 41814531 C T rs150939191 MTRF1 Nonsynonymous SNV G246S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.369 92126 chr4 55984959 55984959 C G rs139047809 KDR Nonsynonymous SNV R57T 0.003 0 0 4 3 0 0.01 0 0 0 0 0 not provided 16.76 92127 chr13 42769064 42769064 C T DGKH Synonymous SNV G448G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 92128 chr13 29598940 29598940 G C MTUS2 Synonymous SNV T35T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.549 92129 chr13 45915481 45915481 A C rs12872310 TPT1-AS1 0 0 0.146 0 0 0 0 43 0 0 14 0 5.517 92130 chr13 45915500 45915500 C T rs12872567 TPT1-AS1 0 0 0.071 0 0 0 0 21 0 0 9 0 6.697 92131 chr13 45147305 45147305 T A rs144252895 TSC22D1 Nonsynonymous SNV D969V 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 23.6 92132 chr15 40246136 40246136 G A rs186768938 EIF2AK4 Nonsynonymous SNV R182K 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 92133 chr13 46099118 46099118 C T rs142678425 COG3 Nonsynonymous SNV A721V 0 0 0 3 0 0 0.008 0 0 0 0 0 24 92134 chr13 47286708 47286708 C T rs766547620 LRCH1 Nonsynonymous SNV P544S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 92135 chr13 32912980 32912980 A G BRCA2 Synonymous SNV P1496P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 0.523 92136 chr4 68925066 68925066 T C TMPRSS11F Nonsynonymous SNV E379G 0 0.003 0 5 0 1 0.013 0 0 0 0 0 24.6 92137 chr14 94964623 94964623 C G SERPINA12 Nonsynonymous SNV G38R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 92138 chr14 95081409 95081409 A C rs184704051 SERPINA3 Nonsynonymous SNV I211L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 92139 chr14 95916397 95916397 C T rs149713915 SYNE3 Synonymous SNV E440E 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 12.74 92140 chr13 50205165 50205165 G C rs35835937 ARL11 Nonsynonymous SNV K194N 0 0 0 3 0 0 0.008 0 0 0 0 0 15.48 92141 chr15 90164738 90164738 G A rs749665843 TICRR Nonsynonymous SNV R1089H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.9 92142 chr13 39621264 39621264 A G rs41286949 NHLRC3 Nonsynonymous SNV T189A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 10.2 92143 chr15 41797047 41797047 G A rs748131904 LTK Nonsynonymous SNV R552W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 92144 chr4 71570940 71570940 G A rs540816910 RUFY3 Nonsynonymous SNV G96D 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.3 92145 chr14 97347520 97347520 G C VRK1 Nonsynonymous SNV R389T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 92146 chr4 71570941 71570941 C T rs558927175 RUFY3 Synonymous SNV G96G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 15.24 92147 chr14 99959188 99959188 T C rs770305538 CCNK Synonymous SNV F58F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.999 92148 chr16 114773 114773 G A rs147906988 RHBDF1 Nonsynonymous SNV H58Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.005 92149 chr13 76301193 76301193 A G rs145642799 LMO7 Nonsynonymous SNV I57V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 16.16 92150 chr15 45465773 45465773 C T SHF 0 0.003 0 0 0 1 0 0 0 0 0 0 25 92151 chr12 95907611 95907611 G T rs112506052 METAP2 Synonymous SNV A433A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.985 92152 chr13 60545182 60545182 G A rs111260336 DIAPH3 Nonsynonymous SNV P325L 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 Benign 26.5 92153 chr16 1245443 1245443 C T rs769394588 CACNA1H Synonymous SNV A141A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 92154 chr16 1259212 1259212 G A rs780831084 CACNA1H Nonsynonymous SNV G1182S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.013 92155 chr15 42201972 42201972 T C rs758222613 EHD4 Synonymous SNV L338L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.045 92156 chr4 77692020 77692020 G A rs145235341 SHROOM3 Nonsynonymous SNV G1864D 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 24.2 92157 chr13 78167671 78167671 G A rs373741877 SCEL Nonsynonymous SNV V217I 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.207 92158 chr15 23891604 23891604 G A rs2233061 MAGEL2 Nonsynonymous SNV P429L 0.013 0.016 0.007 3 15 6 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.473 92159 chr14 102196816 102196816 C T rs149391010 LINC00239 0 0 0.003 0 0 0 0 1 0 0 0 0 0.143 92160 chr14 102197694 102197694 G A rs72715630 LINC00239 0 0 0.051 0 0 0 0 15 0 0 1 0 0.007 92161 chr14 102198596 102198596 C T rs3825559 LINC00239 0 0 0.048 0 0 0 0 14 0 0 1 0 2.327 92162 chr14 102198689 102198689 C T rs45481791 LINC00239 0 0 0.048 0 0 0 0 14 0 0 1 0 4.619 92163 chr15 44120340 44120340 G A rs34623235 WDR76 Nonsynonymous SNV A16T 0.005 0.01 0.01 0 6 4 0 3 0 0 0 0 0.548 92164 chr13 99087930 99087930 T G rs140045465 FARP1 Nonsynonymous SNV I748M 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 24.2 92165 chr16 10525062 10525062 C T rs118085445 ATF7IP2 Synonymous SNV D195D 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 5.468 92166 chr16 10775873 10775873 G A rs139254890 TEKT5 Synonymous SNV H280H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.591 92167 chr4 85419251 85419251 G T NKX6-1 Nonsynonymous SNV P44H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 21.5 92168 chr4 87683889 87683889 C T rs186651045 PTPN13 Nonsynonymous SNV T997I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.1 92169 chr4 87730980 87730980 C T rs61730641 PTPN13 Nonsynonymous SNV T2190I 0.003 0.008 0.014 4 4 3 0.01 4 0 0 0 0 32 92170 chr15 45564963 45564963 T C SLC28A2 Nonsynonymous SNV C614R 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 92171 chr16 11773668 11773668 C T rs151125071 TXNDC11 Nonsynonymous SNV E302K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 92172 chr16 1888078 1888078 G C rs781670886 FAHD1 Nonsynonymous SNV S233T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.775 92173 chr15 49882183 49882183 G C FAM227B Nonsynonymous SNV H43D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 92174 chr4 89034589 89034589 C T rs138606116 ABCG2 Nonsynonymous SNV G354R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.057 92175 chr16 19548901 19548901 G T rs150018784 CCP110 Nonsynonymous SNV S637I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 92176 chr14 105288089 105288089 A G rs2498790 LINC00638 0 0 0.014 0 0 0 0 4 0 0 2 0 0.907 92177 chr15 63047874 63047874 C T rs118024777 TLN2 Synonymous SNV N1540N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.31 92178 chr15 63335991 63335991 G A rs914524011 TPM1 Synonymous SNV A67A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 16.28 92179 chr13 84454751 84454751 G A rs146746846 SLITRK1 Nonsynonymous SNV H298Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.955 92180 chr15 52652174 52652174 T C rs13329278 MYO5A Synonymous SNV S1138S 0.014 0.013 0.014 1 17 5 0.003 4 0 0 1 0 Benign 0.053 92181 chr15 52676392 52676392 A G rs16964944 MYO5A Nonsynonymous SNV M627T 0.014 0.013 0.01 1 17 5 0.003 3 0 0 0 0 Benign 0.008 92182 chr16 1388934 1388934 C T rs144485372 BAIAP3 Nonsynonymous SNV H55Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 92183 chr15 52877016 52877016 T C rs61731680 FAM214A Synonymous SNV E1008E 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 5.396 92184 chr15 52901321 52901321 G A rs59704628 FAM214A Nonsynonymous SNV T604M 0.011 0.008 0.007 2 13 3 0.005 2 0 0 0 0 11.42 92185 chr15 40764144 40764144 G C CHST14 Synonymous SNV R244R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.737 92186 chr14 100126086 100126086 C T rs182375562 HHIPL1 Synonymous SNV T456T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.067 92187 chr16 2070109 2070109 C A rs780963954 NPW Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 92188 chr4 100235140 100235140 C A rs2018417 ADH1B Synonymous SNV A222A 0.01 0.021 0.024 6 12 8 0.015 7 0 0 0 0 Benign 21.1 92189 chr15 65680886 65680886 C T rs200113249 IGDCC4 Nonsynonymous SNV D916N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 92190 chr4 100512392 100512392 G A rs61750974 MTTP Nonsynonymous SNV V195I 0.012 0.01 0.01 9 14 4 0.023 3 0 0 0 0 Conflicting interpretations of pathogenicity 17.53 92191 chr4 110791360 110791360 C T rs149304853 LRIT3 Synonymous SNV A485A 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.87 92192 chr16 21139006 21139006 A C rs201072182 DNAH3 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 92193 chr4 113175921 113175921 A G AP1AR Nonsynonymous SNV S51G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 92194 chr16 16263533 16263533 C T rs529676674 ABCC6 Nonsynonymous SNV G989R 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25 92195 chr16 16263662 16263662 G T rs61340537 ABCC6 Nonsynonymous SNV L946I 0.012 0.016 0.007 6 14 6 0.015 2 0 0 0 0 Likely benign 0.007 92196 chr4 106639176 106639176 T A rs61736388 GSTCD Nonsynonymous SNV C136S 0.008 0.013 0.01 3 9 5 0.008 3 0 0 0 0 23.9 92197 chr4 106650631 106650631 C G rs10009875 GSTCD Synonymous SNV L405L 0.007 0.01 0.017 8 8 4 0.021 5 0 0 0 0 12.74 92198 chr14 21074683 21074683 C T rs1243595 LOC254028 0 0 0.153 0 0 0 0 45 0 0 5 0 7.54 92199 chr16 17252757 17252757 G T rs147074504 XYLT1 Nonsynonymous SNV D433E 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.6 92200 chr4 107157935 107157935 A G rs199583403 TBCK Nonsynonymous SNV Y338H 0 0 0 2 0 0 0.005 0 0 0 0 0 29.7 92201 chr14 103806120 103806120 A G rs532642425 EIF5 Nonsynonymous SNV I351V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.6 92202 chr4 107279386 107279386 A G rs114682579 GIMD1 Nonsynonymous SNV M203T 0.009 0.003 0 5 10 1 0.013 0 0 0 0 0 18.77 92203 chr16 2522299 2522299 C T NTN3 Synonymous SNV S199S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 92204 chr15 64422118 64422118 C A rs139810506 SNX1 Nonsynonymous SNV P206T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 29.2 92205 chr15 43256226 43256226 T C UBR1 Nonsynonymous SNV E1536G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.1 92206 chr4 110791087 110791087 A G rs184650144 LRIT3 Synonymous SNV T394T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 0.012 92207 chr16 19083300 19083300 G C rs138730205 COQ7 Nonsynonymous SNV D4H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 24.2 92208 chr15 65321766 65321766 C G rs183891284 MTFMT Synonymous SNV A62A 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Benign 13.46 92209 chr14 21811196 21811196 A G rs17103671 RPGRIP1 Nonsynonymous SNV D1114G 0.008 0.005 0.017 6 9 2 0.015 5 1 0 0 0 Benign/Likely benign 8.087 92210 chr14 21991007 21991007 C T rs762891326 SALL2 Nonsynonymous SNV R950Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 92211 chr4 126412109 126412109 C T rs770459923 FAT4 Nonsynonymous SNV T4712M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 92212 chr4 113353523 113353525 TTC - rs150577225 ALPK1 S864del 0.008 0.016 0.007 6 9 6 0.015 2 0 0 0 0 92213 chr15 75641559 75641559 C T rs368271056 NEIL1 Nonsynonymous SNV P191S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.04 92214 chr16 28909388 28909388 T A ATP2A1 Nonsynonymous SNV V371D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 92215 chr16 29675724 29675724 C G rs11574556 SPN Nonsynonymous SNV S225R 0.006 0.021 0.003 3 7 8 0.008 1 0 0 0 0 12.67 92216 chr15 44858101 44858101 C T rs79186522 SPG11 Nonsynonymous SNV G2204D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 19.61 92217 chr14 21548913 21548913 G A rs61734981 ARHGEF40 Nonsynonymous SNV R109Q 0.01 0.005 0.01 2 12 2 0.005 3 0 0 0 0 Benign 22.6 92218 chr14 105420534 105420534 C A rs41307096 AHNAK2 Nonsynonymous SNV R318S 0.019 0.016 0.003 2 22 6 0.005 1 0 0 0 0 14.23 92219 chr15 45392390 45392390 C T rs112598817 DUOX2 Synonymous SNV A1014A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 16.62 92220 chr4 134073706 134073706 T C rs115671631 PCDH10 Nonsynonymous SNV I804T 0.014 0.01 0.027 8 16 4 0.021 8 0 0 0 0 Likely benign 2.743 92221 chr14 21897467 21897467 G A rs192989929 CHD8 Nonsynonymous SNV L291F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 26.3 92222 chr16 20975870 20975870 C T rs34622944 DNAH3 Nonsynonymous SNV M3066I 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.547 92223 chr16 30768271 30768271 C T rs375398772 PHKG2 Synonymous SNV Y358Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 92224 chr14 23371268 23371268 A - rs776938285 RBM23 A356Pfs*11 0.001 0 0.007 0 1 0 0 2 0 0 0 0 92225 chr14 23371270 23371271 CA - rs762848810 RBM23 A355Cfs*86 0.001 0 0.007 0 1 0 0 2 0 0 0 0 92226 chr14 23549278 23549278 C G rs201079356 ACIN1 Nonsynonymous SNV L440F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 92227 chr15 79296386 79296386 C T rs145347876 RASGRF1 Nonsynonymous SNV S736N 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Benign 11.11 92228 chr4 123868456 123868456 C T rs6534369 SPATA5 Synonymous SNV L508L 0.019 0.016 0.01 9 22 6 0.023 3 0 0 0 0 Benign 15.2 92229 chr15 49659790 49659790 - ACTA rs532275129 FAM227B Stop gain T376* 0.001 0 0 0 1 0 0 0 0 0 0 0 92230 chr15 49663555 49663555 C T FAM227B Nonsynonymous SNV A352T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.796 92231 chr16 22159551 22159551 A G rs191488230 VWA3A Nonsynonymous SNV M970V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 92232 chr14 23871692 23871692 C T rs148091079 MYH6 Synonymous SNV A374A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.93 92233 chr16 314954 314954 G A FAM234A Nonsynonymous SNV G531D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 92234 chr15 51397202 51397202 C G rs150980610 TNFAIP8L3 Nonsynonymous SNV A58P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.87 92235 chr14 23777081 23777081 G A rs2231300 BCL2L2, BCL2L2-PABPN1 Synonymous SNV E35E 0.011 0.01 0.024 8 13 4 0.021 7 0 0 0 0 1.007 92236 chr14 24838901 24838901 - GGGGGTGCT rs527477740 NFATC4 G107_G108insAGG 0.03 0.031 0.041 6 35 12 0.015 12 0 0 0 0 92237 chr4 141383110 141383110 G A rs141556089 MGAT4D Synonymous SNV A245A 0.009 0.008 0 7 11 3 0.018 0 0 0 0 0 8.681 92238 chr15 86123751 86123751 C T rs146902475 AKAP13 Synonymous SNV L818L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.75 92239 chr4 144106771 144106771 C T rs187135621 USP38 Synonymous SNV F56F 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 11.03 92240 chr13 46357853 46357853 T C rs200106527 SIAH3 Nonsynonymous SNV M159V 0.003 0 0 0 4 0 0 0 0 0 0 0 2.944 92241 chr14 25075920 25075920 G A rs72681016 GZMH Synonymous SNV D124D 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 0.828 92242 chr14 28142321 28142321 G A rs10140565 LOC728755 0 0 0.058 0 0 0 0 17 0 0 4 0 2.025 92243 chr15 86800154 86800154 C T rs185896474 AGBL1 Nonsynonymous SNV P269L 0.013 0.023 0.017 9 15 9 0.023 5 0 0 0 0 31 92244 chr15 58247449 58247449 C T rs139785128 ALDH1A2 Synonymous SNV R405R 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 14.08 92245 chr4 146791556 146791556 T C rs143420805 ZNF827 Nonsynonymous SNV T608A 0.009 0 0.003 3 11 0 0.008 1 0 0 0 0 1.603 92246 chr15 78894076 78894077 AG - rs538193392 CHRNA3 L303Dfs*115 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 92247 chr14 24975463 24975463 A G CMA1 Nonsynonymous SNV L13P 0 0 0 2 0 0 0.005 0 0 0 0 0 1.611 92248 chr4 159627412 159627421 AATATAAGAC - ETFDH N392Rfs*13 0.001 0 0 1 1 0 0.003 0 0 0 0 0 92249 chr4 159836467 159836467 C T rs10517695 C4orf45 Nonsynonymous SNV R134H 0.009 0 0 1 10 0 0.003 0 0 0 0 0 28.9 92250 chr14 35343464 35343464 - C rs397970372 LOC112268124 0 0 0.014 0 0 0 0 4 0 0 2 0 92251 chr14 35515702 35515702 T G rs200956304 FAM177A1 Nonsynonymous SNV F11L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 92252 chr16 30016644 30016644 C A rs201487520 INO80E Nonsynonymous SNV P167T 0.007 0.005 0 4 8 2 0.01 0 1 0 0 1 5.377 92253 chr14 23512041 23512041 G A rs149885629 PSMB11 Nonsynonymous SNV A203T 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 Benign 9.661 92254 chr4 154553877 154553877 C T rs35627765 TMEM131L Synonymous SNV Y1405Y 0.01 0.003 0.01 3 12 1 0.008 3 0 0 0 0 7.248 92255 chr15 83334016 83334016 A G rs9806591 AP3B2 Synonymous SNV L671L 0.027 0.008 0.027 10 32 3 0.026 8 0 0 0 0 21.1 92256 chr15 83334245 83334245 C T rs9806343 AP3B2 Synonymous SNV P613P 0.027 0.008 0.02 10 32 3 0.026 6 0 0 0 0 15.71 92257 chr13 53420754 53420754 C A rs757720288 PCDH8 Synonymous SNV A606A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.29 92258 chr14 45403416 45403416 A G rs139388902 KLHL28 Synonymous SNV P429P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.75 92259 chr14 45645253 45645253 G A rs139382267 FANCM Nonsynonymous SNV R1073H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.119 92260 chr14 23846514 23846514 A C CMTM5 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.46 92261 chr16 30736343 30736345 GTT - rs565950672 SRCAP F1867del 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 92262 chr14 45693250 45693250 C A rs35141317 MIS18BP1 Nonsynonymous SNV G847V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.09 92263 chr14 50732095 50732095 T C rs150157112 L2HGDH Nonsynonymous SNV T393A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 13.96 92264 chr15 65234697 65234697 C T rs200369345 ANKDD1A Nonsynonymous SNV H301Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.2 92265 chr16 5046398 5046398 G A rs148132971 SEC14L5 Synonymous SNV T239T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 92266 chr15 85383709 85383709 A G rs55702300 ALPK3 Nonsynonymous SNV Q400R 0.023 0.013 0.003 7 27 5 0.018 1 0 0 0 0 Benign 5.691 92267 chr16 3109123 3109123 C A rs193188076 MMP25-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 9.175 92268 chr16 31091727 31091727 G A rs137914572 ZNF646 Nonsynonymous SNV R1361H 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 23.5 92269 chr13 77460096 77460096 A G rs929811928 KCTD12 Nonsynonymous SNV M63T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.33 92270 chr13 77736073 77736073 C T MYCBP2 Nonsynonymous SNV D2189N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 92271 chr15 90760810 90760810 C T rs74037028 SEMA4B Nonsynonymous SNV S22F 0.003 0.003 0.014 5 4 1 0.013 4 0 0 0 0 11.64 92272 chr15 90768942 90768942 C T rs115820812 SEMA4B Nonsynonymous SNV A386V 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 34 92273 chr15 66995657 66995657 G A rs188799901 SMAD6 Nonsynonymous SNV D21N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 30 92274 chr15 90784342 90784342 A G rs74037072 GDPGP1 Nonsynonymous SNV K68E 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 0.074 92275 chr4 185039014 185039014 G A rs116426631 ENPP6 Synonymous SNV R191R 0.015 0.016 0.017 6 18 6 0.015 5 1 0 0 0 9.884 92276 chr15 90902172 90902172 C T rs16944267 ZNF774 Nonsynonymous SNV P65L 0.007 0.01 0.017 2 8 4 0.005 5 0 0 1 0 5.037 92277 chr15 90903310 90903310 A C rs28678568 ZNF774 Nonsynonymous SNV N83H 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 0.012 92278 chr14 53521183 53521183 T C rs756936633 DDHD1 Nonsynonymous SNV S804G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 92279 chr15 90903408 90903408 A G rs74038631 ZNF774 Synonymous SNV L115L 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign 0.002 92280 chr16 56868044 56868044 C T rs141945589 NUP93 Synonymous SNV S391S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 12.41 92281 chr4 169182081 169182081 G A rs747782758 DDX60 Synonymous SNV I1111I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 4.746 92282 chr15 91147652 91147652 G A rs145024567 CRTC3 Nonsynonymous SNV G150E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.5 92283 chr15 91352484 91352484 C T rs1031421025 BLM Nonsynonymous SNV S1159L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.244 92284 chr16 336421 336421 G A rs45519635 PDIA2 Synonymous SNV K396K 0.002 0 0.017 0 2 0 0 5 0 0 0 0 11.33 92285 chr4 170347331 170347331 C T rs56252746 NEK1 Synonymous SNV S883S 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 Likely benign 11.27 92286 chr14 100828197 100828197 G A rs2234522 WARS1 Nonsynonymous SNV A13V 0.003 0 0 0 4 0 0 0 0 0 0 0 3.301 92287 chr15 72847656 72847656 C T rs76918861 ARIH1 Synonymous SNV C211C 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 11.5 92288 chr15 93015699 93015699 C G rs74888661 C15orf32 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.061 92289 chr16 3778424 3778424 T G rs142545779 CREBBP Nonsynonymous SNV Q2170H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.026 92290 chr16 3779594 3779594 C T rs61754523 CREBBP Synonymous SNV V1780V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 8.822 92291 chr4 187535391 187535391 C T rs773577175 FAT1 Synonymous SNV T3061T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.65 92292 chr15 74741543 74741543 G A UBL7 Nonsynonymous SNV P289L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 92293 chr4 187540040 187540040 C T rs116784674 FAT1 Nonsynonymous SNV R2567H 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 23.9 92294 chr16 57849373 57849373 A T rs74019704 LOC388282 Nonsynonymous SNV R111S 0.033 0.039 0.041 15 39 15 0.038 12 1 0 0 0 4.576 92295 chr4 187627855 187627855 C T rs372605617 FAT1 Nonsynonymous SNV V1043M 0.007 0.003 0 0 8 1 0 0 0 0 0 0 23.7 92296 chr16 58581581 58581581 G A CNOT1 Synonymous SNV L1171L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 92297 chr14 50088719 50088719 G C rs117536357 MGAT2 Nonsynonymous SNV V245L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Uncertain significance 9.463 92298 chr16 597258 597258 G A rs145595428 CAPN15 Synonymous SNV A140A 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 2.144 92299 chr16 1129525 1129525 G A rs4988488 SSTR5 Synonymous SNV L219L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.487 92300 chr16 602501 602501 C T rs138192600 CAPN15 Nonsynonymous SNV P903L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.602 92301 chr14 50101547 50101547 G C rs944251462 DNAAF2 Synonymous SNV S107S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 1.248 92302 chr14 64580075 64580075 T C rs61747118 SYNE2 Nonsynonymous SNV I4209T 0.014 0.016 0.014 3 17 6 0.008 4 0 0 0 0 Benign 0.076 92303 chr14 64588825 64588825 C A rs36021513 SYNE2 Nonsynonymous SNV N4418K 0.014 0.016 0.014 3 17 6 0.008 4 0 0 0 0 Benign 0.292 92304 chr14 64588837 64588837 G A rs34944385 SYNE2 Synonymous SNV Q4422Q 0.014 0.016 0.01 3 16 6 0.008 3 0 0 0 0 Benign 8.198 92305 chr16 1143547 1143547 T G rs73494080 C1QTNF8 Nonsynonymous SNV Y238S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.7 92306 chr5 1216769 1216769 C T rs140296083 SLC6A19 Synonymous SNV R328R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 11.11 92307 chr16 1143978 1143978 - C rs142667444 C1QTNF8 Frameshift insertion L95Pfs*280 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 92308 chr16 50332900 50332900 G A rs147644927 ADCY7 Nonsynonymous SNV R345Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.9 92309 chr15 78777183 78777183 G A IREB2 Synonymous SNV K248K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.8 92310 chr15 91450107 91450107 A C MAN2A2 Nonsynonymous SNV T325P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 92311 chr16 67327642 67327642 C T rs145649592 KCTD19 Nonsynonymous SNV E675K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 92312 chr14 105350450 105350450 G A rs761311635 CEP170B Nonsynonymous SNV R375H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 92313 chr16 68269820 68269820 C T rs150603076 ESRP2 Synonymous SNV R43R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.73 92314 chr14 68256184 68256184 C G rs116890187 ZFYVE26 Nonsynonymous SNV V963L 0.011 0.016 0.017 4 13 6 0.01 5 0 0 0 0 Conflicting interpretations of pathogenicity 19.28 92315 chr15 81440847 81440847 G A rs199517516 CFAP161 Synonymous SNV E293E 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 1.55 92316 chr14 69704434 69704434 A G rs45557240 EXD2 Nonsynonymous SNV K354E 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 8.686 92317 chr15 99500546 99500546 A G rs374710491 IGF1R Nonsynonymous SNV N1327D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.59 92318 chr16 55883627 55883627 G T rs181438833 CES5A Nonsynonymous SNV D444E 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 92319 chr16 1399600 1399600 C T rs143790681 TSR3 Synonymous SNV S259S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 11.75 92320 chr14 53619500 53619500 C G rs117525276 DDHD1 Nonsynonymous SNV G106A 0.025 0.026 0.037 4 29 10 0.01 11 0 0 0 0 Benign 9.301 92321 chr16 10996029 10996029 G A rs771338224 CIITA Nonsynonymous SNV D206N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.45 92322 chr16 705826 705826 G A rs775668493 WDR90 Nonsynonymous SNV G635S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 92323 chr5 1075582 1075582 C T rs764812219 SLC12A7 Nonsynonymous SNV S624N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 92324 chr16 70713592 70713592 C A MTSS2 Nonsynonymous SNV R133L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 92325 chr16 1823059 1823059 A G rs780648399 MRPS34 Nonsynonymous SNV L21P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 27.2 92326 chr14 75189982 75189982 A G rs61730183 FCF1 Synonymous SNV P88P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 92327 chr16 1840870 1840870 A T rs757236289 IGFALS Nonsynonymous SNV S555T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 4.899 92328 chr15 85487849 85487849 G A rs148919058 SLC28A1 Synonymous SNV A406A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.961 92329 chr14 75514489 75514489 C G rs28756986 MLH3 Nonsynonymous SNV E624Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 16.99 92330 chr16 1251963 1251963 C T rs60414549 CACNA1H Nonsynonymous SNV R505C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 22.9 92331 chr14 70246018 70246018 A G rs55645214 SLC10A1 Synonymous SNV N209N 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 0.219 92332 chr14 70634435 70634435 G A rs35113711 SLC8A3 Synonymous SNV L235L 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 0.406 92333 chr14 70634539 70634539 G A SLC8A3 Stop gain R201X 0.003 0 0 3 3 0 0.008 0 0 0 0 0 36 92334 chr5 7832056 7832056 A T rs143664639 C5orf49 Nonsynonymous SNV F117L 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 2.288 92335 chr16 1269084 1269084 G A rs200399120 CACNA1H Nonsynonymous SNV R1995Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Likely benign 4.402 92336 chr14 72054708 72054708 G A rs78621209 SIPA1L1 Nonsynonymous SNV R40Q 0.026 0.016 0.007 4 31 6 0.01 2 0 0 0 0 Benign 22.9 92337 chr15 86205658 86205658 C T rs144219907 AKAP13 Synonymous SNV G1595G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.3 92338 chr15 86311492 86311492 T G rs150552394 KLHL25 Nonsynonymous SNV Q517P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 92339 chr16 1270871 1270871 C T rs59385968 CACNA1H Synonymous SNV P2307P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 10.92 92340 chr5 35065513 35065513 T A rs147265072 PRLR Nonsynonymous SNV N415I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.7 92341 chr5 35065862 35065862 C G rs144399444 PRLR Nonsynonymous SNV E299Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.164 92342 chr16 1390933 1390933 C T rs781169474 BAIAP3 Nonsynonymous SNV T140I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.301 92343 chr16 2079769 2079769 G A rs753866913 SLC9A3R2 Nonsynonymous SNV E134K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.35 92344 chr16 2110805 2110805 G A rs1800742 TSC2 Synonymous SNV Q170Q 0.02 0.029 0.014 3 24 11 0.008 4 0 0 0 0 Benign/Likely benign 7.9 92345 chr16 14540824 14540824 A C rs200434143 PARN Nonsynonymous SNV D549E 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Uncertain significance 0.326 92346 chr16 75238144 75238144 C T rs201069805 CTRB2 Nonsynonymous SNV R236H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.39 92347 chr5 38506657 38506657 T A LIFR Nonsynonymous SNV R357W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 92348 chr5 38942449 38942449 G A rs61748204 RICTOR Nonsynonymous SNV T1372I 0.026 0.013 0.024 10 31 5 0.026 7 0 0 0 0 2.411 92349 chr16 66958963 66958963 C T rs764978814 RRAD Nonsynonymous SNV M40I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 92350 chr16 1507276 1507276 C T rs61743590 CLCN7 Synonymous SNV T243T 0.022 0.01 0.027 8 26 4 0.021 8 0 0 0 1 Uncertain significance 12.59 92351 chr14 74824665 74824665 G A rs143832135 VRTN Synonymous SNV A393A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 1.289 92352 chr16 15932098 15932098 C T rs112650390 MYH11 Synonymous SNV K4K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.64 92353 chr16 15967431 15967431 A G rs769626874 FOPNL Nonsynonymous SNV I56T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.34 92354 chr16 1621414 1621414 G A rs751137317 IFT140 Nonsynonymous SNV S549F 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Uncertain significance 30 92355 chr14 91341703 91341703 T C rs182308463 RPS6KA5 Nonsynonymous SNV Y394C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 92356 chr14 75904614 75904614 T C rs569714123 JDP2 Synonymous SNV T8T 0.008 0.01 0 10 9 4 0.026 0 0 0 0 0 3.202 92357 chr14 75904615 75904615 C A rs201898432 JDP2 Nonsynonymous SNV P9T 0.008 0.01 0 10 9 4 0.026 0 0 0 0 0 14.49 92358 chr16 1639732 1639732 G A rs765361599 IFT140 Synonymous SNV S228S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.774 92359 chr14 91739946 91739946 T C rs746019915 CCDC88C Nonsynonymous SNV S1704G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.404 92360 chr16 705632 705632 G A rs372539923 WDR90 Nonsynonymous SNV R593Q 0.003 0 0 0 4 0 0 0 0 0 0 0 6.956 92361 chr14 68117587 68117587 A T rs141432809 ARG2 Nonsynonymous SNV T339S 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 10.01 92362 chr16 27556687 27556687 T G GTF3C1 Nonsynonymous SNV I127L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 92363 chr14 76452150 76452150 G A rs193921095 IFT43 Synonymous SNV L7L 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Likely benign 8.275 92364 chr16 1825890 1825890 C T rs114640322 EME2 Nonsynonymous SNV A291V 0.006 0 0 1 7 0 0.003 0 0 0 0 0 10.77 92365 chr14 92472218 92472218 T C rs139539448 TRIP11 Nonsynonymous SNV N700S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 92366 chr5 35084710 35084710 T C rs746827446 PRLR Nonsynonymous SNV I79V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 0.111 92367 chr14 68249842 68249842 T C rs777319379 ZFYVE26 Nonsynonymous SNV R1343G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 27 92368 chr5 53814532 53814532 C T rs148015838 SNX18 Synonymous SNV G250G 0.009 0.005 0.01 5 11 2 0.013 3 0 0 0 0 11.05 92369 chr14 93118292 93118292 C T RIN3 Nonsynonymous SNV L225F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.812 92370 chr16 28488943 28488943 T C rs77595156 CLN3 Nonsynonymous SNV H304R 0.031 0.023 0.031 9 36 9 0.023 9 0 0 1 0 Benign 23.2 92371 chr16 2867905 2867905 C T PRSS21 Synonymous SNV H65H 0 0.005 0 0 0 2 0 0 0 0 0 0 12.1 92372 chr16 83704505 83704505 C T rs35795249 CDH13 Synonymous SNV N365N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 14.04 92373 chr14 70512987 70512987 T C rs150876389 SLC8A3 Nonsynonymous SNV I178V 0.009 0.016 0.007 5 11 6 0.013 2 0 0 0 0 13.9 92374 chr5 54557283 54557283 G A rs1052132 DHX29 Synonymous SNV T1240T 0.024 0.016 0.014 3 28 6 0.008 4 1 0 0 0 11.31 92375 chr15 91500452 91500452 G A rs11554300 RCCD1 Synonymous SNV P92P 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 10.64 92376 chr5 39110463 39110463 C T rs35970892 FYB1 Synonymous SNV A764A 0.032 0.018 0.031 7 37 7 0.018 9 0 0 0 0 9.89 92377 chr14 24711465 24711465 C G rs202093758 TINF2 Nonsynonymous SNV G25A 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign/Likely benign 12.31 92378 chr15 91543131 91543131 T A rs16945153 VPS33B Synonymous SNV T525T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 13.51 92379 chr16 30018132 30018132 G A rs778728323 DOC2A Synonymous SNV N284N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.073 92380 chr16 72141640 72141640 C T rs11554765 DHX38 Nonsynonymous SNV S969F 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 28.1 92381 chr16 84225111 84225111 G C ADAD2 Nonsynonymous SNV G92A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 92382 chr16 72822563 72822563 - TGC rs376311468 ZFHX3 Q2290_P2291insQ 0.008 0.013 0.014 6 9 5 0.015 4 0 0 0 0 92383 chr5 41048504 41048504 T A rs757894069 MROH2B Nonsynonymous SNV I536L 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 14.54 92384 chr16 72828403 72828403 A G rs2229286 ZFHX3 Synonymous SNV L1812L 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 0.007 92385 chr16 30666213 30666213 C G PRR14 Nonsynonymous SNV P308A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 92386 chr14 81862360 81862360 G A rs563993314 STON2 Nonsynonymous SNV P84L 0 0 0 3 0 0 0.008 0 0 0 0 0 16.27 92387 chr14 81952083 81952083 T C rs761039518 SEL1L Synonymous SNV A602A 0 0 0 3 0 0 0.008 0 0 0 0 0 9.157 92388 chr16 30735778 30735778 C T rs759622628 SRCAP Nonsynonymous SNV T1678M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.5 92389 chr5 57790603 57790603 C T rs35272273 GAPT Synonymous SNV H80H 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 1.885 92390 chr14 74413305 74413305 A G rs200537390 FAM161B Nonsynonymous SNV F20L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.842 92391 chr5 57790610 57790610 G A rs35260984 GAPT Nonsynonymous SNV A83T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 0.002 92392 chr5 60939180 60939180 A T rs566469487 C5orf64 0.001 0 0 0 1 0 0 0 0 0 0 0 0.968 92393 chr16 84472851 84472851 A G rs377115423 ATP2C2 Nonsynonymous SNV K205E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 92394 chr5 44388663 44388663 C T rs772109862 FGF10 Nonsynonymous SNV G41D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.32 92395 chr5 66448688 66448688 C T rs371209983 MAST4 Synonymous SNV I912I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 92396 chr16 31335812 31335812 C T rs538515225 ITGAM Nonsynonymous SNV R699C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.12 92397 chr16 31475839 31475839 C T rs202069202 ARMC5 Nonsynonymous SNV R499W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 25.8 92398 chr16 11367338 11367338 C T PRM3 Nonsynonymous SNV V39M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22 92399 chr16 11370027 11370027 G A rs200072135 PRM2 Synonymous SNV H67H 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 1.044 92400 chr5 54327428 54327428 A C rs200532050 GZMK Synonymous SNV A200A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.98 92401 chr16 11647527 11647527 T C rs539627278 LITAF Nonsynonymous SNV Y80C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.6 92402 chr16 11829886 11829886 C T rs140374310 TXNDC11 Nonsynonymous SNV R153Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.07 92403 chr14 77745201 77745201 C T rs142299878 POMT2 Nonsynonymous SNV V635I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.31 92404 chr15 101099430 101099430 C T rs28396912 PRKXP1 0 0 0.031 0 0 0 0 9 0 0 1 0 0.87 92405 chr16 3406681 3406681 G T OR2C1 Synonymous SNV V247V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.047 92406 chr16 81124216 81124216 T C rs8177877 GCSH Nonsynonymous SNV N73S 0.013 0.01 0.003 3 15 4 0.008 1 0 0 0 1 Benign 16.85 92407 chr16 81129794 81129794 G C rs8177847 GCSH Synonymous SNV P30P 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 1 Benign 2.877 92408 chr16 1248689 1248689 G A rs369630836 CACNA1H Nonsynonymous SNV V240I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.7 92409 chr5 56155628 56155628 G A rs56279792 MAP3K1 Synonymous SNV A240A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 5.473 92410 chr15 101718106 101718106 G A rs3803423 CHSY1 Synonymous SNV V632V 0.004 0.013 0.024 7 5 5 0.018 7 0 0 0 0 Benign 4.971 92411 chr15 101718190 101718190 C T rs3803422 CHSY1 Synonymous SNV V604V 0.004 0.013 0.024 7 5 5 0.018 7 0 0 0 0 Benign 10.75 92412 chr15 101718529 101718529 T C rs76457230 CHSY1 Synonymous SNV Q491Q 0.004 0.013 0.024 7 5 5 0.018 7 0 0 0 0 Benign 0.001 92413 chr15 101718950 101718950 T C rs74752435 CHSY1 Nonsynonymous SNV K351R 0.004 0.013 0.024 7 5 5 0.018 7 0 0 0 0 Benign 2.525 92414 chr5 74907469 74907469 G A rs61516153 ANKDD1B Nonsynonymous SNV A4T 0.009 0.018 0.017 4 10 7 0.01 5 0 0 0 1 11.33 92415 chr5 74981103 74981103 C T rs34678567 POC5 Nonsynonymous SNV A421T 0.017 0.036 0.024 13 20 14 0.033 7 0 0 0 0 5.22 92416 chr16 27483107 27483107 G A rs148652312 GTF3C1 Synonymous SNV F1496F 0.011 0.008 0.003 1 13 3 0.003 1 0 0 0 0 15.63 92417 chr15 102252163 102252163 C T rs138576200 TARSL2 Nonsynonymous SNV M244I 0.003 0 0.014 0 3 0 0 4 0 0 0 0 23.1 92418 chr16 88763984 88763984 C G rs374693627 RNF166 Nonsynonymous SNV E155Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23 92419 chr15 102388991 102388991 C T rs34449200 OR4F13P 0 0 0.126 0 0 0 0 37 0 0 2 0 5.67 92420 chr16 818381 818381 G A rs149260184 MSLN Synonymous SNV P541P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 3.697 92421 chr16 2815831 2815831 C T rs200815139 SRRM2 Nonsynonymous SNV R1768C 0.003 0 0 0 3 0 0 0 0 0 0 0 18.97 92422 chr5 75964614 75964614 C T rs377130667 IQGAP2 Stop gain R426X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 42 92423 chr5 75969801 75969801 A G rs145178581 IQGAP2 Synonymous SNV K574K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.332 92424 chr15 21938069 21938069 T C rs8025331 LOC646214 0 0 0.071 0 0 0 0 21 0 0 0 0 7.089 92425 chr16 1448906 1448906 G - rs770490782 UNKL R258Gfs*112 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 92426 chr5 76128842 76128842 A G rs116539551 F2RL1 Nonsynonymous SNV H137R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 92427 chr15 23891894 23891894 C T MAGEL2 Synonymous SNV Q332Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 92428 chr16 837578 837578 G A rs773631974 RPUSD1 Nonsynonymous SNV P54S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 92429 chr14 51054559 51054559 G A rs775540772 ATL1 Synonymous SNV S15S 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Likely benign 13.58 92430 chr5 77458689 77458689 A C rs75248449 AP3B1 Synonymous SNV T390T 0.008 0.005 0 0 9 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.039 92431 chr15 26260639 26260639 G A rs188896942 LINC02346 0 0 0.024 0 0 0 0 7 0 0 0 0 0.757 92432 chr14 92582544 92582544 C T NDUFB1 Stop gain W57X 0.003 0.01 0 0 3 4 0 0 0 1 0 0 41 92433 chr16 48164750 48164750 G - rs755680592 ABCC12 F396Sfs*13 0.001 0.003 0 0 1 1 0 0 0 0 0 0 92434 chr16 30128224 30128224 C T rs1143695 MAPK3 Synonymous SNV P292P 0.009 0.005 0.01 5 11 2 0.013 3 0 0 0 0 Benign 10.77 92435 chr16 1639779 1639779 T C IFT140 Nonsynonymous SNV T213A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 92436 chr14 93142861 93142861 T C rs147042536 RIN3 Nonsynonymous SNV Y718H 0.012 0.008 0.01 1 14 3 0.003 3 0 0 0 0 27.3 92437 chr16 17353090 17353090 G C rs113276942 XYLT1 Nonsynonymous SNV A223G 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 7.789 92438 chr16 30774525 30774525 C G rs200779294 RNF40 Synonymous SNV L73L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.05 92439 chr14 94160717 94160717 A G UNC79 Nonsynonymous SNV M2365V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.1 92440 chr16 1842272 1842272 G A rs759331045 IGFALS Synonymous SNV Y87Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.772 92441 chr16 18845609 18845609 C A rs191155973 SMG1 Nonsynonymous SNV V2828L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 22.7 92442 chr5 74412467 74412467 C T rs540695109 ANKRD31 Nonsynonymous SNV C1303Y 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 19.97 92443 chr16 19125885 19125885 G A rs757189685 ITPRIPL2 Synonymous SNV G34G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 4.571 92444 chr14 94933634 94933634 G A rs766298331 SERPINA9 Synonymous SNV P158P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.468 92445 chr14 94933635 94933635 G T rs753706799 SERPINA9 Nonsynonymous SNV P158H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 92446 chr15 40099263 40099263 C T GPR176 Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 92447 chr15 22840279 22840279 G A rs61744212 TUBGCP5 Synonymous SNV L115L 0.006 0.008 0 7 7 3 0.018 0 0 0 0 1 Benign 13.22 92448 chr14 58332368 58332368 C A rs72624732 SLC35F4 Nonsynonymous SNV R2L 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 19.12 92449 chr14 95921855 95921855 G A rs376060946 SYNE3 Synonymous SNV A332A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 3.245 92450 chr5 82834240 82834240 C A VCAN Synonymous SNV T819T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.48 92451 chr15 40558099 40558099 C T rs138470960 BUB1B-PAK6, PAK6 Synonymous SNV N87N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.49 92452 chr16 3142730 3142730 C T ZSCAN10 Nonsynonymous SNV G70D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 92453 chr16 20380898 20380898 G A rs150342728 PDILT Synonymous SNV D344D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.355 92454 chr16 2051178 2051178 C T rs200445451 ZNF598 Nonsynonymous SNV R343Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 92455 chr17 10231335 10231335 C T rs186137259 MYH13 Nonsynonymous SNV A847T 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 24.8 92456 chr5 78280974 78280974 G A rs201168448 ARSB Nonsynonymous SNV A33V 0.005 0.008 0.01 1 6 3 0.003 3 0 0 0 0 Benign/Likely benign 0.85 92457 chr14 99870572 99870572 A G rs7143302 SETD3 Synonymous SNV C389C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 5.338 92458 chr16 88496719 88496719 G A rs150435442 ZNF469 Synonymous SNV R947R 0.006 0.013 0.003 7 7 5 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.119 92459 chr16 56913088 56913088 C T rs34216426 SLC12A3 Synonymous SNV T428T 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.76 92460 chr15 40951543 40951543 A G rs908929419 KNL1 Synonymous SNV R2240R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.495 92461 chr15 41482231 41482231 T C rs16971598 EXD1 Synonymous SNV A262A 0.025 0.023 0.02 8 29 9 0.021 6 0 1 1 0 8.921 92462 chr16 57416026 57416026 G A CX3CL1 Synonymous SNV Q7Q 0.008 0.008 0 0 9 3 0 0 0 0 0 0 0.571 92463 chr5 79031066 79031066 A G rs182795650 CMYA5 Nonsynonymous SNV K2160E 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 17.71 92464 chr5 79035095 79035095 G C rs148631314 CMYA5 Nonsynonymous SNV E3503Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 23.7 92465 chr16 3454541 3454541 G C rs141518055 ZNF174 Nonsynonymous SNV S173T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 92466 chr16 57702304 57702304 G T rs138354738 ADGRG3 Synonymous SNV L15L 0.002 0.008 0.007 3 2 3 0.008 2 0 0 0 0 0.485 92467 chr15 101115269 101115269 T C rs146704559 LINS1 Nonsynonymous SNV N185S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.358 92468 chr16 3614094 3614094 G A rs199931603 NLRC3 Nonsynonymous SNV R282W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 92469 chr16 21654459 21654459 C T rs146422757 IGSF6 Nonsynonymous SNV R201H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 92470 chr16 2201579 2201579 C T rs62642473 RAB26 Synonymous SNV L106L 0.011 0.005 0.014 3 13 2 0.008 4 0 0 0 0 10.41 92471 chr16 57775651 57775651 C T rs146372886 KATNB1 Synonymous SNV A31A 0.009 0.016 0.01 1 10 6 0.003 3 0 0 0 0 Benign 15.26 92472 chr16 3727646 3727646 G A TRAP1 Nonsynonymous SNV A133V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.9 92473 chr16 57787376 57787376 G A rs371910703 KATNB1 Synonymous SNV A374A 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 8.787 92474 chr16 22157582 22157582 C A rs61744122 VWA3A Nonsynonymous SNV T919K 0.068 0.086 0.065 17 80 33 0.044 19 0 0 1 0 20.9 92475 chr14 64469665 64469665 T A SYNE2 Synonymous SNV S1338S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.902 92476 chr15 23892336 23892336 G A rs925740739 MAGEL2 Nonsynonymous SNV P185L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.347 92477 chr15 42984783 42984783 T C rs147213920 STARD9 Synonymous SNV F3669F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.638 92478 chr15 43585823 43585823 G A TGM7 Nonsynonymous SNV T6I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 92479 chr5 98109705 98109705 C G rs771521678 RGMB Nonsynonymous SNV H18Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.2 92480 chr15 45386410 45386410 C T DUOX2 Nonsynonymous SNV A1529T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 92481 chr16 24582698 24582698 A G rs141921137 RBBP6 Synonymous SNV Q1403Q 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 0.023 92482 chr17 15406442 15406442 G C rs139005045 TVP23C Nonsynonymous SNV C189W 0.009 0.003 0.007 3 11 1 0.008 2 0 0 0 0 23.4 92483 chr16 24801809 24801809 G A rs146782316 TNRC6A Nonsynonymous SNV E616K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.1 92484 chr16 67183948 67183948 C T rs146483793 B3GNT9 Synonymous SNV G147G 0.003 0.013 0 3 3 5 0.008 0 0 0 0 0 16.72 92485 chr16 67685832 67685832 G A rs140263068 CARMIL2 Nonsynonymous SNV R866Q 0.003 0.016 0.003 3 4 6 0.008 1 0 0 0 0 23 92486 chr5 107716556 107716556 G T rs960075021 FBXL17 Synonymous SNV V279V 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.12 92487 chr16 2498949 2498949 G T rs36008785 CCNF Nonsynonymous SNV E88D 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Benign 23.8 92488 chr16 68289739 68289739 C T rs76404867 PLA2G15 Synonymous SNV P191P 0.006 0.018 0.007 4 7 7 0.01 2 0 0 0 1 18.48 92489 chr14 68038889 68038889 C T rs116547943 PLEKHH1 Synonymous SNV Y541Y 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 14.13 92490 chr16 89258231 89258231 C - CDH15 F517Sfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 92491 chr16 48177848 48177848 T G rs200103308 ABCC12 Nonsynonymous SNV Y83S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.02 92492 chr16 2546381 2546381 G A rs776539630 TBC1D24 Nonsynonymous SNV V78M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 92493 chr15 33023098 33023098 C G rs2280738 GREM1 Synonymous SNV P69P 0.004 0.005 0.01 5 5 2 0.013 3 0 0 0 0 Benign 4.578 92494 chr16 2580755 2580755 G C rs76722821 AMDHD2, CEMP1 Nonsynonymous SNV A107G 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 5.437 92495 chr15 41195320 41195320 G A VPS18 Synonymous SNV K901K 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 7.468 92496 chr17 16852282 16852282 C T rs55916807 TNFRSF13B Nonsynonymous SNV R72H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 5.133 92497 chr16 4924838 4924838 C T rs371705582 UBN1 Synonymous SNV A809A 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 13.7 92498 chr16 90030653 90030653 C T rs138908537 DEF8 Nonsynonymous SNV R300C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.1 92499 chr17 17206918 17206927 CGCGGGGCGG - rs753196817 NT5M G23Afs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 92500 chr16 70698666 70698666 G A MTSS2 Nonsynonymous SNV H436Y 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 21.7 92501 chr5 114607102 114607102 T C rs765670425 CCDC112 Synonymous SNV E380E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.22 92502 chr15 56924117 56924117 T G rs780791005 ZNF280D Nonsynonymous SNV K827T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 92503 chr16 30134456 30134456 C T MAPK3 Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 92504 chr5 108207150 108207150 G A rs752216654 FER Synonymous SNV S75S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.1 92505 chr14 74978010 74978010 G C rs76172717 LTBP2 Nonsynonymous SNV P989R 0.01 0.021 0.007 10 12 8 0.026 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 92506 chr15 59063659 59063659 G A rs61729219 MINDY2 Nonsynonymous SNV G22E 0 0 0.007 0 0 0 0 2 0 0 0 0 19.98 92507 chr15 59064278 59064278 G A rs8029869 MINDY2 Synonymous SNV Q228Q 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 8.04 92508 chr16 72993398 72993398 G A rs200201291 ZFHX3 Nonsynonymous SNV P216L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 15.49 92509 chr17 11757564 11757564 A G rs769037909 DNAH9 Nonsynonymous SNV N3251S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.902 92510 chr15 62212467 62212467 C T rs143926369 VPS13C Nonsynonymous SNV V2383I 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 12.31 92511 chr17 11797798 11797798 G A rs774350960 DNAH9 Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 92512 chr5 131931380 131931380 A G rs876658675 RAD50 Synonymous SNV Q695Q 0.002 0.016 0 2 2 6 0.005 0 0 0 0 0 Likely benign 5.609 92513 chr15 63004200 63004200 T C rs147975596 TLN2 Nonsynonymous SNV M853T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 92514 chr15 43571404 43571404 C T rs140755102 TGM7 Nonsynonymous SNV V584M 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 23 92515 chr16 31091309 31091309 C T rs780438440 ZNF646 Nonsynonymous SNV R1222W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 92516 chr15 43748556 43748556 A T rs28903075 TP53BP1 Synonymous SNV A750A 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 Benign 1.602 92517 chr15 43819244 43819244 C G rs202116613 MAP1A Nonsynonymous SNV S1858C 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Likely benign 23.2 92518 chr16 75563227 75563227 G T rs74027407 CHST5 Synonymous SNV S352S 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 0.59 92519 chr15 45388140 45388140 G A rs61730032 DUOX2 Synonymous SNV S1322S 0.008 0.013 0.01 6 9 5 0.015 3 0 0 0 0 Benign/Likely benign 7.059 92520 chr16 58537661 58537661 G A rs200745405 NDRG4 Nonsynonymous SNV R12Q 0.014 0.005 0 3 16 2 0.008 0 0 0 0 0 1.781 92521 chr15 42120342 42120342 A G rs151053095 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV E7G 0.017 0.031 0.003 6 20 12 0.015 1 0 0 0 0 12.6 92522 chr15 65223717 65223717 A G rs149812319 ANKDD1A Synonymous SNV G234G 0 0 0.007 0 0 0 0 2 0 0 0 0 2.499 92523 chr15 65369263 65369263 G A rs201775551 KBTBD13 Nonsynonymous SNV R37H 0 0 0.003 0 0 0 0 1 0 0 0 0 21 92524 chr16 77369672 77369672 T A ADAMTS18 Stop gain R442X 0 0.008 0 3 0 3 0.008 0 0 0 0 0 42 92525 chr15 42147893 42147893 G A rs56199567 SPTBN5 Synonymous SNV S3024S 0.017 0.023 0 7 20 9 0.018 0 0 0 0 0 7.206 92526 chr16 775805 775805 G C rs748438652 CCDC78 Nonsynonymous SNV L86V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.7 92527 chr15 65497779 65497779 G A rs573364331 CILP Synonymous SNV R150R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.858 92528 chr17 21319222 21319222 C A rs145471133 KCNJ12, KCNJ18 Synonymous SNV R190R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.78 92529 chr5 121786403 121786403 C T rs28937592 SNCAIP Nonsynonymous SNV R217C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 34 92530 chr16 67289816 67289816 G A rs772005631 SLC9A5 Synonymous SNV S197S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 4.845 92531 chr5 139189306 139189306 C T rs142293471 PSD2 Nonsynonymous SNV A94V 0.002 0.01 0 0 2 4 0 0 0 0 0 0 11.67 92532 chr16 67976320 67976320 A T rs4986970 LCAT Nonsynonymous SNV S232T 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 Likely benign 16.33 92533 chr14 88946449 88946449 G A rs137858098 PTPN21 Synonymous SNV P442P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.611 92534 chr16 3614572 3614572 G A rs773356010 NLRC3 Synonymous SNV V122V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 92535 chr16 68266288 68266288 C T rs376455570 ESRP2 Nonsynonymous SNV V324I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.95 92536 chr17 17069666 17069666 A T rs193129533 MPRIP Synonymous SNV T1619T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 4.876 92537 chr5 140070876 140070876 G T rs78741041 HARS1 Nonsynonymous SNV A5E 0.006 0.016 0.003 0 7 6 0 1 0 0 0 0 Benign/Likely benign 1.888 92538 chr16 685313 685313 G A rs201877690 METTL26 Nonsynonymous SNV L130F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.6 92539 chr16 68598268 68598268 A G ZFP90 Synonymous SNV E526E 0.003 0 0 0 3 0 0 0 0 0 0 0 1.858 92540 chr5 131915632 131915632 A G rs374597425 RAD50 Synonymous SNV L210L 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 Likely benign 4.544 92541 chr17 26919576 26919576 C T rs141766452 SPAG5 Nonsynonymous SNV R229H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.359 92542 chr17 27044667 27044667 T C rs190293462 RAB34 Synonymous SNV V20V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 12.85 92543 chr14 92958521 92958521 G A SLC24A4 Synonymous SNV V551V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.09 92544 chr15 54307538 54307538 A G rs995949776 UNC13C Nonsynonymous SNV N813S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.84 92545 chr16 4487486 4487486 G A rs1062706 DNAJA3 Synonymous SNV E143E 0.01 0.01 0 3 12 4 0.008 0 0 1 0 0 14.66 92546 chr15 74741686 74741686 C T rs147593058 UBL7 Synonymous SNV R241R 0.026 0.039 0.014 6 31 15 0.015 4 1 0 0 0 13.96 92547 chr16 4606635 4606635 G A rs62625009 C16orf96 Nonsynonymous SNV D49N 0.011 0.013 0 3 13 5 0.008 0 0 1 0 0 23.4 92548 chr5 135379795 135379795 G A TGFBI Synonymous SNV E94E 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.71 92549 chr5 140255004 140255004 G A rs782346114 LOC112267934 0.001 0 0 0 1 0 0 0 0 0 0 0 6.591 92550 chr16 71884209 71884209 C A rs77031689 ATXN1L Nonsynonymous SNV P189Q 0.007 0 0 1 8 0 0.003 0 0 0 0 0 25.2 92551 chr16 72055078 72055078 G A rs148523165 DHODH Synonymous SNV A191A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 8.839 92552 chr15 76552024 76552024 A G rs79134355 TYRO3P 0 0 0.126 0 0 0 0 37 0 0 0 0 3.934 92553 chr15 76552034 76552034 A G rs77513116 TYRO3P 0 0 0.126 0 0 0 0 37 0 0 0 0 0.496 92554 chr15 76552051 76552051 C A rs78498285 TYRO3P 0 0 0.133 0 0 0 0 39 0 0 0 0 7.855 92555 chr15 76552052 76552052 G T rs79619806 TYRO3P 0 0 0.133 0 0 0 0 39 0 0 0 0 2.481 92556 chr15 76552062 76552062 C T rs74688704 TYRO3P 0 0 0.133 0 0 0 0 39 0 0 0 0 1.056 92557 chr15 76552076 76552076 G A rs112646693 TYRO3P 0 0 0.126 0 0 0 0 37 0 0 0 0 0.418 92558 chr5 137481530 137481530 A C rs79921495 BRD8 Nonsynonymous SNV L1106V 0.015 0.023 0.014 14 18 9 0.036 4 0 0 0 0 Benign 14.47 92559 chr15 76552085 76552085 G A rs112949872 TYRO3P 0 0 0.126 0 0 0 0 37 0 0 0 0 4.218 92560 chr5 137521717 137521717 C T rs34771967 KIF20A Synonymous SNV D731D 0.014 0.018 0.007 14 16 7 0.036 2 0 0 0 0 Benign 10.03 92561 chr15 48888508 48888508 G A rs111671429 FBN1 Synonymous SNV Y170Y 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.929 92562 chr5 137727169 137727169 G T rs34608821 KDM3B Nonsynonymous SNV E616D 0.014 0.018 0.007 14 16 7 0.036 2 0 0 0 0 Likely benign 0.179 92563 chr15 48936828 48936828 C T rs762400500 FBN1 Nonsynonymous SNV G47S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 92564 chr5 137754658 137754658 C G rs149190373 KDM3B Nonsynonymous SNV P1151R 0.013 0.016 0 12 15 6 0.031 0 0 0 0 0 19.86 92565 chr5 140754910 140754910 C T rs114810218 PCDHGA6 Synonymous SNV I420I 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 7.982 92566 chr15 77908051 77908051 G A rs370139254 LINGO1 Synonymous SNV P66P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.035 92567 chr15 51693813 51693813 G A rs35223886 GLDN Nonsynonymous SNV D227N 0.009 0.018 0.003 2 10 7 0.005 1 0 0 0 0 20.7 92568 chr5 140855777 140855777 G A PCDHGC3 Nonsynonymous SNV V32I 0.002 0.01 0 0 2 4 0 0 0 0 0 0 14.42 92569 chr16 50746199 50746199 G A rs104895444 NOD2 Nonsynonymous SNV V766M 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 92570 chr16 85953803 85953803 C T rs148203070 IRF8 Synonymous SNV P155P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 12.77 92571 chr15 79748873 79748873 C A rs142754794 MINAR1 Synonymous SNV I128I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.022 92572 chr15 54025254 54025254 C G rs148643501 WDR72 Synonymous SNV T31T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 9.181 92573 chr15 63594660 63594660 G T rs61751105 APH1B Nonsynonymous SNV V158L 0.01 0.013 0.01 7 12 5 0.018 3 0 0 0 0 23.6 92574 chr15 64008649 64008649 T C rs766264556 HERC1 Synonymous SNV A1334A 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 5.513 92575 chr15 83791600 83791600 G A rs139290119 TM6SF1 Synonymous SNV Q191Q 0.003 0.01 0.007 4 4 4 0.01 2 0 0 0 0 10.4 92576 chr17 35300202 35300202 C G rs377221498 LHX1 Nonsynonymous SNV P332R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 92577 chr15 84700167 84700167 C G rs148548737 ADAMTSL3 Nonsynonymous SNV N1579K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.97 92578 chr17 35631149 35631149 T C rs752379627 ACACA Nonsynonymous SNV I220V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 92579 chr5 149310655 149310655 G C PDE6A Nonsynonymous SNV T265R 0.002 0.013 0 0 2 5 0 0 0 0 0 0 28.4 92580 chr15 65425561 65425561 G C PDCD7 Nonsynonymous SNV R187G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.8 92581 chr16 81712087 81712087 G A rs35429777 CMIP Synonymous SNV P320P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.2 92582 chr15 85177297 85177297 G A rs10795 SCAND2P 0 0 0.024 0 0 0 0 7 0 0 3 0 9.348 92583 chr5 140433211 140433211 A T rs2233595 PCDHB1 Nonsynonymous SNV K719I 0.01 0.013 0.003 8 12 5 0.021 1 0 0 0 0 24.8 92584 chr16 88599240 88599240 C T rs116959818 ZFPM1 Synonymous SNV I362I 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 11.88 92585 chr15 25924909 25924909 G A rs113319791 ATP10A Nonsynonymous SNV P1360L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 16.97 92586 chr15 65756196 65756196 G T rs142999124 DPP8 Nonsynonymous SNV T625N 0.005 0.003 0.01 5 6 1 0.013 3 0 0 0 0 17.93 92587 chr15 65804892 65804892 G A rs118088815 DPP8 Synonymous SNV N16N 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 7.958 92588 chr5 149589031 149589031 G C SLC6A7 Synonymous SNV T588T 0.002 0.013 0 0 2 5 0 0 0 0 0 0 11.65 92589 chr15 28422627 28422627 G A rs61756154 HERC2 Synonymous SNV V3064V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 14.83 92590 chr5 140769329 140769329 A C rs778570717 PCDHGB4 Synonymous SNV T626T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 92591 chr17 36705342 36705342 G A SRCIN1 Nonsynonymous SNV R1023C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 92592 chr17 26861868 26861868 C T rs770510635 FOXN1 Nonsynonymous SNV H427Y 0.005 0 0 0 6 0 0 0 0 0 0 0 22.7 92593 chr15 68500571 68500571 C G CLN6 Nonsynonymous SNV W281C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 32 92594 chr17 36958425 36958425 G T rs200827941 CWC25 Nonsynonymous SNV L400M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 92595 chr16 84346689 84346689 C T WFDC1 Synonymous SNV C89C 0.002 0 0 0 2 0 0 0 0 0 0 0 13.77 92596 chr17 27908848 27908848 C T GIT1 Synonymous SNV A210A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 92597 chr16 84691257 84691257 G A rs368978011 KLHL36 Nonsynonymous SNV V282I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.6 92598 chr15 65477450 65477450 G A rs369619257 CLPX Synonymous SNV V14V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.826 92599 chr15 34531233 34531233 C T rs201062811 SLC12A6 Synonymous SNV T840T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.11 92600 chr16 67970162 67970162 C T rs762186558 PSMB10 Synonymous SNV A66A 0.004 0 0 0 5 0 0 0 0 0 0 0 21.7 92601 chr16 85114953 85114953 T C KIAA0513 Nonsynonymous SNV F312S 0.003 0 0 0 3 0 0 0 0 0 0 0 32 92602 chr17 38176147 38176147 C T rs778911202 MED24 Nonsynonymous SNV R902H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 92603 chr15 89453060 89453060 C T rs138080885 MFGE8 Synonymous SNV T56T 0.008 0 0.003 6 9 0 0.015 1 0 0 0 0 Benign 14.29 92604 chr15 65687559 65687559 G A rs745994988 IGDCC4 Synonymous SNV N483N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.03 92605 chr15 74219314 74219314 G T rs1016964354 LOXL1 Nonsynonymous SNV A64S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.324 92606 chr16 68853297 68853297 G C rs35741240 CDH1 Synonymous SNV T499T 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign/Likely benign 3.648 92607 chr15 66996325 66996325 C G SMAD6 Synonymous SNV P243P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.088 92608 chr16 70513553 70513553 C T rs199905558 FCSK Synonymous SNV T1075T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.75 92609 chr16 70602219 70602219 A G rs145819762 SF3B3 Nonsynonymous SNV I996V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 92610 chr15 90349396 90349396 C T rs145360414 ANPEP Nonsynonymous SNV R140H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 92611 chr5 149213060 149213060 C A rs140114166 PPARGC1B Nonsynonymous SNV P436H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 92612 chr5 158603808 158603808 A G RNF145 Synonymous SNV A181A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.984 92613 chr16 88580796 88580796 C T rs147032017 ZFPM1 Synonymous SNV D90D 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 11.56 92614 chr15 40751241 40751241 C T rs374161184 BAHD1 Nonsynonymous SNV P193L 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 6.628 92615 chr15 72023545 72023545 A G rs373695471 THSD4 Nonsynonymous SNV H180R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 7.769 92616 chr15 76196858 76196858 T C FBXO22 Nonsynonymous SNV V56A 0 0 0 3 0 0 0.008 0 0 0 0 0 1.417 92617 chr16 71803535 71803535 A G rs138274032 AP1G1 Synonymous SNV H211H 0.004 0 0 0 5 0 0 0 0 0 0 0 1.53 92618 chr16 72923733 72923733 G A rs143237537 ZFHX3 Synonymous SNV S201S 0.033 0.013 0.024 5 39 5 0.013 7 2 0 0 0 13.23 92619 chr15 91493745 91493745 C T rs142006513 UNC45A Nonsynonymous SNV R590W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 92620 chr5 149827157 149827157 A C rs150548437 RPS14 Nonsynonymous SNV L47R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 92621 chr15 41535893 41535893 C T rs753821071 CHP1 Synonymous SNV Y32Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.86 92622 chr16 88786245 88786245 C T rs2290900 PIEZO1 Synonymous SNV K2096K 0.009 0 0.007 1 11 0 0.003 2 0 0 0 0 Benign 15.07 92623 chr16 88787737 88787737 C T rs2290899 PIEZO1 Synonymous SNV A1835A 0.009 0 0.003 1 11 0 0.003 1 0 0 0 0 Benign 15.38 92624 chr17 39190973 39190973 - AGCTGGTCTCACAGCAGCTTGGCTGGCAGG rs778448900 KRTAP1-3 S33_C34insSCQPSCCETS 0.016 0.016 0.017 4 19 6 0.01 5 0 0 0 0 92625 chr17 39197590 39197590 G A rs140730427 KRTAP1-1 Synonymous SNV C20C 0.003 0 0 0 3 0 0 0 0 0 0 0 12.02 92626 chr15 42115152 42115152 C T rs61729966 MAPKBP1 Synonymous SNV S1110S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 15.28 92627 chr5 150897314 150897314 C T rs994473013 FAT2 Nonsynonymous SNV R3777K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.04 92628 chr15 93749627 93749627 G A rs764295986 LOC105370980 Nonsynonymous SNV A69T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.316 92629 chr16 76501304 76501304 G C rs6564343 CNTNAP4 Nonsynonymous SNV Q384H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.8 92630 chr17 11881972 11881972 C T rs779423242 ZNF18 Nonsynonymous SNV E318K 0.007 0.005 0.003 5 8 2 0.013 1 0 0 0 0 20.4 92631 chr17 39316870 39316870 T C rs385055 KRTAP4-4 Nonsynonymous SNV Y25C 0.005 0.005 0.007 0 6 2 0 2 0 0 1 0 0.41 92632 chr5 169688121 169688121 C T LCP2 Nonsynonymous SNV R316K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 92633 chr16 76669407 76669407 C G rs113851568 LINC02125 0.001 0 0 0 1 0 0 0 0 0 0 0 0.832 92634 chr15 75648360 75648360 C G MAN2C1 Nonsynonymous SNV E905Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 92635 chr15 75941779 75941779 T G rs371112191 SNX33 Nonsynonymous SNV D112E 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.01 92636 chr17 36002175 36002175 - CCT rs373034938 DDX52 R83_E84insR 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 92637 chr5 150946287 150946287 G A rs544265614 FAT2 Nonsynonymous SNV R736C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.4 92638 chr17 39411711 39411711 C G rs150962386 KRTAP9-9 Nonsynonymous SNV T25S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.064 92639 chr17 39412071 39412071 G A rs9894258 KRTAP9-9 Nonsynonymous SNV C145Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.4 92640 chr17 39459050 39459050 G T rs7224236 KRTAP29-1 Synonymous SNV T18T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.016 92641 chr15 42740560 42740560 T C rs142908361 ZNF106 Nonsynonymous SNV R111G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.9 92642 chr17 36508388 36508388 T G rs562933644 SOCS7 Synonymous SNV P151P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.386 92643 chr17 36714528 36714528 G A rs145161911 SRCIN1 Synonymous SNV R712R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 92644 chr15 78894357 78894357 G T rs55958820 CHRNA3 Synonymous SNV I209I 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 8.731 92645 chr17 36936846 36936846 C T rs16968328 PIP4K2B Synonymous SNV T122T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 20.5 92646 chr17 10231392 10231392 C T rs775216814 MYH13 Nonsynonymous SNV V828I 0.005 0.01 0 0 6 4 0 0 0 0 0 0 25.9 92647 chr17 39623496 39623496 C T rs115680799 KRT32 Nonsynonymous SNV G28S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.049 92648 chr17 37687477 37687477 G T rs186043011 CDK12 Nonsynonymous SNV G1452C 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 24.4 92649 chr15 43813923 43813923 G A rs369525278 MAP1A Synonymous SNV S84S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.62 92650 chr5 157098830 157098830 - TCAG C5orf52 Frameshift insertion L72Qfs*7 0.001 0 0 2 1 0 0.005 0 0 0 0 0 92651 chr15 44858174 44858174 G A rs151317653 SPG11 Nonsynonymous SNV R2180W 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 34 92652 chr17 38100822 38100822 C G rs145060487 LRRC3C Synonymous SNV T221T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.464 92653 chr17 38100945 38100945 C T rs183944484 LRRC3C Synonymous SNV P262P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.13 92654 chr16 82892037 82892037 A G rs72807847 CDH13 Nonsynonymous SNV N39S 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 Benign 0.076 92655 chr17 38487598 38487598 C G rs116538651 RARA Nonsynonymous SNV T43S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.071 92656 chr17 17697105 17697105 - CAG RAI1 Q291_A292insQ 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 92657 chr17 3851111 3851111 G A rs149762992 ATP2A3 Synonymous SNV A223A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.13 92658 chr17 38519592 38519592 C T rs367832750 GJD3 Nonsynonymous SNV G159D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 92659 chr17 17699869 17699869 G A rs770159371 RAI1 Nonsynonymous SNV A1203T 0 0.005 0 0 0 2 0 0 0 0 0 0 12.53 92660 chr17 38545824 38545824 C A rs11540720 TOP2A Nonsynonymous SNV A1515S 0.009 0.013 0.017 3 11 5 0.008 5 0 0 0 0 12.16 92661 chr17 38547868 38547868 C T rs34300454 TOP2A Nonsynonymous SNV G1386D 0.01 0.013 0.017 3 12 5 0.008 5 0 0 0 0 0.489 92662 chr17 11757539 11757539 C T DNAH9 Nonsynonymous SNV P3243S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 92663 chr17 38548586 38548586 T G rs34270904 TOP2A Synonymous SNV T1324T 0.01 0.013 0.017 3 12 5 0.008 5 0 0 0 0 6.941 92664 chr15 45723032 45723032 T G rs192752147 C15orf48 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.4 92665 chr16 14029547 14029547 C G rs367595904 ERCC4 Synonymous SNV T586T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 92666 chr17 38712034 38712034 T C CCR7 Nonsynonymous SNV I27V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 92667 chr17 38856297 38856297 G A rs16966138 KRT24 Nonsynonymous SNV R366C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 92668 chr17 38857401 38857401 G A rs76253297 KRT24 Synonymous SNV N282N 0.003 0 0 0 3 0 0 0 0 0 0 0 1.748 92669 chr17 38859664 38859664 G A rs61237409 KRT24 Synonymous SNV G94G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 7.523 92670 chr15 49584692 49584692 G A rs756009604 GALK2 Nonsynonymous SNV E298K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.8 92671 chr5 169689699 169689699 G A rs201195184 LCP2 Nonsynonymous SNV P289L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 6.031 92672 chr15 85402488 85402488 C T rs201413329 ALPK3 Nonsynonymous SNV R1278W 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 35 92673 chr16 1728327 1728327 C G rs777033509 JPT2 Nonsynonymous SNV P5R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 92674 chr6 1612017 1612017 - CGGCGGCGG rs572346201 FOXC1 G456_Q457insGGG 0.003 0 0 1 4 0 0.003 0 0 0 0 0 92675 chr16 846756 846756 C T rs367816882 CHTF18 Synonymous SNV A832A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.91 92676 chr17 39183150 39183150 - CAGCAGCTTGGCTGACAGCAGCTGGTCTCA KRTAP1-5 C86_Q87insETSCCQPSCC 0.001 0 0 0 1 0 0 0 0 0 0 0 92677 chr17 39183313 39183313 G C rs148449559 KRTAP1-5 Nonsynonymous SNV T32S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.728 92678 chr17 39221765 39221765 G A rs349782 KRTAP2-4 Synonymous SNV P111P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.597 92679 chr16 85814038 85814038 C T rs780325992 EMC8 Synonymous SNV T140T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 92680 chr15 91292949 91292949 A G rs780472557 BLM Nonsynonymous SNV I151V 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 0.001 92681 chr17 39296529 39296540 GACAGCAGCTGG - rs563501173 KRTAP4-6 P67_C70del 0.002 0 0 0 2 0 0 0 0 0 0 0 92682 chr17 39306004 39306004 A G rs238829 KRTAP4-5 Nonsynonymous SNV C6R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.83 92683 chr17 39316482 39316482 C G rs366700 KRTAP4-4 Nonsynonymous SNV R154S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.11 92684 chr17 39316841 39316841 A T rs444509 KRTAP4-4 Nonsynonymous SNV C35S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.91 92685 chr17 39323971 39323971 G A rs428371 KRTAP4-3 Nonsynonymous SNV P152S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 3.046 92686 chr17 39324068 39324068 A G rs440374 KRTAP4-3 Synonymous SNV C119C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.373 92687 chr17 39324391 39324391 C A rs149778906 KRTAP4-3 Nonsynonymous SNV D12Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 92688 chr17 39324410 39324410 G A rs73985507 KRTAP4-3 Synonymous SNV C5C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.32 92689 chr17 39340764 39340764 T G rs35382039 KRTAP4-1 Nonsynonymous SNV S96R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 92690 chr5 178580549 178580549 G A rs61757478 ADAMTS2 Synonymous SNV Y486Y 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.157 92691 chr16 21245101 21245101 G C rs143428829 ANKS4B Nonsynonymous SNV E15Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 26.9 92692 chr17 39346236 39346236 G A rs61746691 KRTAP9-1 Nonsynonymous SNV S33N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.264 92693 chr17 1840079 1840079 C T rs143202933 RTN4RL1 Nonsynonymous SNV R346Q 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 13.09 92694 chr17 39383203 39383203 C A rs238788 KRTAP9-2 Synonymous SNV T99T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.512 92695 chr6 16327864 16327864 - TGCTGCTGC ATXN1 Q225_H226insQQQ 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 92696 chr17 39465254 39465254 G A rs144878573 KRTAP16-1 Synonymous SNV S84S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.235 92697 chr16 2347862 2347862 C T rs759373802 ABCA3 Nonsynonymous SNV G653S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.063 92698 chr17 39502422 39502422 A T rs140430944 KRT33A Nonsynonymous SNV N388K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 92699 chr15 90176497 90176497 C G KIF7 Nonsynonymous SNV E865Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 92700 chr16 23598584 23598584 C T rs139679834 NDUFAB1 Synonymous SNV T75T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 15.19 92701 chr17 39553768 39553768 G A rs143499072 KRT31 Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.843 92702 chr17 39616427 39616427 G A rs9893787 KRT32 Nonsynonymous SNV R428C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 92703 chr16 25043097 25043097 C G rs149747065 LOC554206 0 0 0.003 0 0 0 0 1 0 0 0 0 5.224 92704 chr16 11349186 11349186 - GGGGCC rs777271271 SOCS1 P50_G51insAP 0.006 0 0 2 7 0 0.005 0 0 0 0 0 92705 chr16 256043 256043 A G rs148588029 LUC7L Nonsynonymous SNV M157T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 92706 chr17 39619294 39619294 G A rs74521306 KRT32 Synonymous SNV S335S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.219 92707 chr17 46801752 46801752 G A rs544838647 PRAC2 Nonsynonymous SNV G44S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.095 92708 chr16 27460692 27460692 G A IL21R-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.982 92709 chr17 39643844 39643844 G T rs57989439 KRT36 Nonsynonymous SNV A282D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 92710 chr6 2838854 2838854 T C rs762224614 SERPINB1 Nonsynonymous SNV K79E 0 0 0 2 0 0 0.005 0 0 0 0 0 24.7 92711 chr6 25851102 25851102 C A rs34902660 SLC17A3 Nonsynonymous SNV G161V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.74 92712 chr16 1257109 1257109 C T rs767436883 CACNA1H Synonymous SNV T966T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.05 92713 chr16 28834629 28834629 C A ATXN2L Nonsynonymous SNV P17T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 92714 chr6 26032105 26032105 G A rs143413138 HIST1H3B Synonymous SNV L62L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.911 92715 chr6 26104382 26104382 C T rs2229767 HIST1H4C Synonymous SNV D69D 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 11.19 92716 chr6 26184082 26184082 C G rs61978632 HIST1H2BE Nonsynonymous SNV T20S 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 15.76 92717 chr6 26252148 26252148 C T rs61746493 HIST1H2BH Synonymous SNV I90I 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 9.154 92718 chr16 1391132 1391132 C T rs11866635 BAIAP3 Synonymous SNV A157A 0.021 0.039 0.048 9 25 15 0.023 14 0 0 0 0 9.853 92719 chr16 30012323 30012323 C T rs148682647 INO80E Nonsynonymous SNV L120F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28 92720 chr6 26374571 26374571 G A rs115820857 BTN3A2 Synonymous SNV S327S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 5.776 92721 chr16 14743666 14743666 C T rs148268157 BFAR Synonymous SNV V158V 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 16.15 92722 chr16 30198804 30198804 G A rs143729497 CORO1A Synonymous SNV Q246Q 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 Benign 8.226 92723 chr16 1576697 1576697 G T IFT140 Synonymous SNV R834R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.498 92724 chr16 15797936 15797936 C T MYH11 Nonsynonymous SNV G1944E 0 0 0 3 0 0 0.008 0 0 0 0 0 22.3 92725 chr17 4008089 4008089 C T rs762823217 ZZEF1 Nonsynonymous SNV E471K 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 92726 chr17 40695812 40695812 C T rs115166595 NAGLU Synonymous SNV G596G 0.007 0.008 0.02 12 8 3 0.031 6 0 0 0 0 Benign 9.991 92727 chr16 10574767 10574767 G A rs146194908 ATF7IP2 Nonsynonymous SNV R505Q 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 3.575 92728 chr16 16263594 16263594 C T rs72664287 ABCC6 Synonymous SNV L968L 0.008 0 0 2 9 0 0.005 0 0 0 0 0 Benign 12.81 92729 chr16 10846511 10846511 G A rs2233535 NUBP1 Synonymous SNV K101K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.29 92730 chr17 26864393 26864393 C T rs368962978 FOXN1 Nonsynonymous SNV T629M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.14 92731 chr17 27421108 27421108 C T rs143502477 MYO18A Nonsynonymous SNV A1113T 0.007 0.018 0.003 1 8 7 0.003 1 0 0 0 0 23.5 92732 chr15 74472455 74472455 G A rs144043304 STRA6 Nonsynonymous SNV T657M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 10.24 92733 chr16 31424209 31424209 G A rs773510109 ITGAD Synonymous SNV A587A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 92734 chr16 3142568 3142568 C G rs755979872 ZSCAN10 Nonsynonymous SNV R124P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.79 92735 chr16 31439613 31439613 A C rs140129800 COX6A2 Nonsynonymous SNV L12V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.21 92736 chr16 19455468 19455468 G T rs72785308 TMC5 Nonsynonymous SNV S285I 0.031 0.021 0.037 12 36 8 0.031 11 0 0 0 0 0.004 92737 chr15 75500966 75500966 C T rs143423812 C15orf39 Synonymous SNV P859P 0.008 0.005 0 0 9 2 0 0 0 0 0 0 13.89 92738 chr16 3306393 3306393 G A rs104895077 MEFV Synonymous SNV Y65Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.858 92739 chr16 19729721 19729721 C T rs111355075 IQCK Synonymous SNV T31T 0.02 0.021 0.01 7 23 8 0.018 3 0 0 0 0 13.53 92740 chr6 18457444 18457444 C T RNF144B Synonymous SNV C130C 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 13.65 92741 chr6 24410957 24410957 A G MRS2 Synonymous SNV K139K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 3.64 92742 chr16 1273582 1273582 G A rs535807832 TPSG1 Nonsynonymous SNV P29L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.1 92743 chr15 77908170 77908170 G T LINGO1 Nonsynonymous SNV L27I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.3 92744 chr17 31094662 31094662 G A MYO1D Synonymous SNV L275L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 92745 chr15 78393434 78393434 C T rs200468445 SH2D7 Nonsynonymous SNV A280V 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 8.024 92746 chr15 78465993 78465993 G A rs41279224 ACSBG1 Synonymous SNV Y673Y 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 7.606 92747 chr6 24818827 24818827 T C rs61733143 RIPOR2 Synonymous SNV L965L 0.006 0.016 0.007 10 7 6 0.026 2 0 0 0 0 Benign 8.332 92748 chr6 24843174 24843174 T G rs143785002 RIPOR2 Nonsynonymous SNV L591F 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 13.42 92749 chr6 24843231 24843231 A G rs148527955 RIPOR2 Synonymous SNV S572S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 4.383 92750 chr6 24843334 24843334 G A rs142889670 RIPOR2 Nonsynonymous SNV S538L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 7.058 92751 chr6 24843452 24843452 G A rs35780910 RIPOR2 Nonsynonymous SNV R499C 0.006 0.016 0.007 10 7 6 0.026 2 0 0 0 0 Benign 23.8 92752 chr6 34831921 34831921 C T UHRF1BP1 Nonsynonymous SNV R1120W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 92753 chr6 24843655 24843655 G C rs34298086 RIPOR2 Nonsynonymous SNV S431C 0.006 0.016 0.007 10 7 6 0.026 2 0 0 0 0 Benign 17.76 92754 chr6 24843740 24843740 C T rs34016544 RIPOR2 Nonsynonymous SNV E403K 0.006 0.016 0.007 10 7 6 0.026 2 0 0 0 0 Benign 14.35 92755 chr17 33481621 33481621 G A rs372652886 UNC45B Nonsynonymous SNV R167H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 92756 chr17 44791326 44791326 A C rs753364460 NSF Nonsynonymous SNV T579P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.76 92757 chr16 46781921 46781921 C T rs762293646 MYLK3 Nonsynonymous SNV R62Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.497 92758 chr17 17719594 17719594 G A rs763435141 SREBF1 Nonsynonymous SNV T690M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 92759 chr17 56386515 56386515 T C TSPOAP1 Nonsynonymous SNV Q1313R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.368 92760 chr16 1637283 1637283 C T rs141993646 IFT140 Nonsynonymous SNV E309K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.2 92761 chr16 48139174 48139174 A G rs143453562 ABCC12 Nonsynonymous SNV V850A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 14.01 92762 chr6 36262152 36262152 C T rs147133102 PNPLA1 Synonymous SNV H144H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.232 92763 chr17 3788843 3788843 G A rs113610926 CAMKK1 Nonsynonymous SNV R47W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 92764 chr6 26156900 26156900 G A rs549787183 H1-4 Synonymous SNV V94V 0 0 0 2 0 0 0.005 0 0 0 0 0 4.739 92765 chr6 26184104 26184104 C T rs764880184 H2BC6 Synonymous SNV G27G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.556 92766 chr6 26184109 26184109 A C rs758574968 H2BC6 Nonsynonymous SNV K29T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 20.8 92767 chr17 18221040 18221040 G T rs200406677 SMCR8 Nonsynonymous SNV G646V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.867 92768 chr16 2278509 2278509 G A rs2241070 E4F1 Synonymous SNV A98A 0.026 0.031 0.037 10 30 12 0.026 11 0 0 0 1 5.428 92769 chr6 26205059 26205059 C T rs75682828 H4C5 Synonymous SNV L63L 0.009 0.013 0.007 2 10 5 0.005 2 0 0 0 0 11.78 92770 chr17 56650660 56650660 C T rs55768547 TEX14 Synonymous SNV T1131T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 16.99 92771 chr17 57335163 57335163 A G GDPD1 Nonsynonymous SNV N180D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 92772 chr16 1961868 1961868 C T rs200057891 HS3ST6 Nonsynonymous SNV R251H 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 24.2 92773 chr6 26452365 26452365 C T rs372897235 BTN3A3 Nonsynonymous SNV P284L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.4 92774 chr17 38340928 38340928 A G rs79118406 RAPGEFL1 Synonymous SNV L126L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.51 92775 chr17 35902518 35902518 G A rs140909346 SYNRG Nonsynonymous SNV P714S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.77 92776 chr16 19653745 19653745 G A rs146888482 VPS35L Synonymous SNV P537P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.21 92777 chr17 38950239 38950239 C T rs2270153 KRT28 Synonymous SNV A346A 0.009 0.003 0 2 11 1 0.005 0 2 0 0 0 18.52 92778 chr17 38950251 38950251 A G rs2270154 KRT28 Synonymous SNV C342C 0.009 0.003 0 2 11 1 0.005 0 2 0 0 0 0.817 92779 chr17 4700993 4700993 C G rs2304974 PSMB6 Nonsynonymous SNV P107A 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 16.76 92780 chr16 55360493 55360493 G T rs79122224 IRX6 Synonymous SNV L97L 0.006 0.01 0.014 4 7 4 0.01 4 0 0 0 0 7.563 92781 chr6 28331535 28331535 C T ZKSCAN3 Stop gain Q86X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 36 92782 chr17 61278143 61278143 C T rs189853609 TANC2 Synonymous SNV I124I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.492 92783 chr16 555567 555567 C T rs138453938 RAB11FIP3 Nonsynonymous SNV T170M 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23.5 92784 chr17 39041107 39041107 G A rs200267938 KRT20 Nonsynonymous SNV P111S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.07 92785 chr17 61895202 61895202 G T rs117181531 DDX42 Nonsynonymous SNV S754I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 14.85 92786 chr15 89074774 89074774 C T rs371253594 DET1 Nonsynonymous SNV V55I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 92787 chr6 33695880 33695880 G A rs146845617 IP6K3 Nonsynonymous SNV R133C 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 14.99 92788 chr17 37619100 37619100 A G rs141321265 CDK12 Nonsynonymous SNV Y259C 0.003 0 0 0 3 0 0 0 0 0 0 0 16.78 92789 chr17 37682394 37682394 G A rs140167318 CDK12 Synonymous SNV T1195T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.21 92790 chr6 34857302 34857302 - GGCGGC rs71538280 ANKS1A G46_S47insGG 0.04 0.044 0.01 19 47 17 0.049 3 1 1 1 2 92791 chr6 35286075 35286075 C T rs61748597 DEF6 Synonymous SNV L348L 0.018 0.01 0.003 7 21 4 0.018 1 0 0 0 0 16.38 92792 chr16 2094643 2094643 G A rs140211154 NTHL1 Synonymous SNV V61V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 5.76 92793 chr6 35423886 35423886 C T rs7761870 FANCE Nonsynonymous SNV S204L 0.02 0.01 0.003 6 24 4 0.015 1 0 0 0 0 Benign 11.01 92794 chr16 57068106 57068106 A G rs3995818 NLRC5 Nonsynonymous SNV H857R 0.009 0.005 0.014 0 10 2 0 4 1 0 0 0 0.003 92795 chr16 57085465 57085465 C T rs79541588 NLRC5 Synonymous SNV F1146F 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 14.31 92796 chr16 57144768 57144768 G A CPNE2 Synonymous SNV R38R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.095 92797 chr6 35715076 35715076 C T rs35066231 ARMC12 Synonymous SNV I161I 0.011 0 0.014 6 13 0 0.015 4 0 0 0 0 15.53 92798 chr16 57507885 57507885 G A rs560352516 DOK4 Synonymous SNV R222R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 92799 chr17 38854564 38854564 A G rs71371442 KRT24 Synonymous SNV T501T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 0.017 92800 chr17 38855758 38855758 G A rs141219105 KRT24 Synonymous SNV D433D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.69 92801 chr16 57562958 57562958 G T CCDC102A Nonsynonymous SNV S44R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 92802 chr17 38855805 38855805 A G rs12946793 KRT24 Nonsynonymous SNV W418R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 3.81 92803 chr17 48655625 48655625 C T rs58207445 CACNA1G Synonymous SNV C667C 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 9.73 92804 chr16 2223995 2223995 C T rs138647853 TRAF7 Synonymous SNV C403C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 17.31 92805 chr17 38935980 38935980 C T rs76225348 KRT27 Nonsynonymous SNV R273K 0.01 0.008 0.037 7 12 3 0.018 11 1 0 0 0 22.2 92806 chr6 43019078 43019078 C T rs61750322 CUL7 Synonymous SNV G371G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.829 92807 chr6 36339141 36339141 C T rs115876066 ETV7 Synonymous SNV A59A 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 Benign 10.81 92808 chr17 2279080 2279080 G C rs143622489 SGSM2 Nonsynonymous SNV E754Q 0.002 0 0 0 2 0 0 0 0 0 0 0 3.259 92809 chr17 39580467 39580467 A G rs143839263 KRT37 Synonymous SNV H103H 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 13.9 92810 chr16 23079888 23079888 G A rs764599324 USP31 Nonsynonymous SNV R1180W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 92811 chr17 38990969 38990969 C T rs374835718 TMEM99 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.29 92812 chr17 39622385 39622385 A G rs2071560 KRT32 Nonsynonymous SNV I171T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 26.5 92813 chr17 39643934 39643934 G C rs75790652 KRT36 Nonsynonymous SNV A252G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 27.4 92814 chr6 36976838 36976838 G A rs831509 FGD2 Synonymous SNV T99T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 8.711 92815 chr16 23614913 23614913 A T rs62625284 PALB2 Nonsynonymous SNV L1143H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 92816 chr16 24358110 24358110 C T rs368528326 CACNG3 Synonymous SNV Y89Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 92817 chr6 38820533 38820533 C T rs747954312 DNAH8 Nonsynonymous SNV R1627C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 92818 chr15 90809586 90809586 T G rs148744537 NGRN Synonymous SNV G77G 0.014 0.008 0.003 5 17 3 0.013 1 1 0 0 0 10.74 92819 chr6 46190912 46190912 C T rs766970609 RCAN2 Nonsynonymous SNV R187Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 92820 chr17 67148603 67148603 C T rs377479549 ABCA10 Nonsynonymous SNV V1386I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.517 92821 chr16 2817621 2817621 G A rs150380100 SRRM2 Synonymous SNV A2364A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 9.448 92822 chr6 47846234 47846234 G A PTCHD4 Synonymous SNV F782F 0.003 0 0 0 3 0 0 0 0 0 0 0 1.606 92823 chr16 2822060 2822060 C T rs371338420 ELOB Synonymous SNV P96P 0.003 0 0 1 4 0 0.003 0 1 0 0 0 9.569 92824 chr6 39866711 39866711 G C rs185163538 DAAM2 Nonsynonymous SNV V893L 0 0 0 2 0 0 0.005 0 0 0 0 0 21 92825 chr16 67763701 67763701 C A rs61743482 RANBP10 Synonymous SNV G226G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 92826 chr17 41165657 41165657 G A rs199510319 IFI35 Nonsynonymous SNV M180I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.68 92827 chr17 6982125 6982125 T C rs142535416 CLEC10A Nonsynonymous SNV R3G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.133 92828 chr17 39635668 39635668 C T rs189349506 KRT35 Synonymous SNV K214K 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 14.26 92829 chr6 43096814 43096814 C T rs140498092 PTK7 Nonsynonymous SNV P68L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.703 92830 chr17 42454380 42454380 C G rs763762304 ITGA2B Nonsynonymous SNV R755P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 32 92831 chr16 30990969 30990969 C T rs147948503 SETD1A Nonsynonymous SNV R1288C 0.004 0 0.007 6 5 0 0.015 2 0 0 0 0 18.67 92832 chr17 42454390 42454390 G C rs761174160 ITGA2B Nonsynonymous SNV L752V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.7 92833 chr6 43252017 43252017 C T rs202084134 TTBK1 Nonsynonymous SNV A1180V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.21 92834 chr17 42476477 42476477 G A rs368842431 GPATCH8 Nonsynonymous SNV R912W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 92835 chr16 70708381 70708381 C T rs200666822 MTSS2 Nonsynonymous SNV G294E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.4 92836 chr17 33884535 33884535 T C SLFN14 Nonsynonymous SNV M183V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.074 92837 chr17 72338116 72338116 C G rs769939316 KIF19 Synonymous SNV T74T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 92838 chr17 72346695 72346695 C T rs760028029 KIF19 Nonsynonymous SNV H457Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 92839 chr16 71465028 71465028 G A rs146843300 TLE7 Synonymous SNV S381S 0 0 0.017 0 0 0 0 5 0 0 0 0 12.26 92840 chr16 71465054 71465054 G A rs554870730 TLE7 Nonsynonymous SNV R373C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.46 92841 chr16 31090291 31090291 C T ZNF646 Synonymous SNV L882L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.88 92842 chr16 1250562 1250562 C T rs1037578858 CACNA1H Synonymous SNV A370A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 92843 chr6 43414147 43414147 C T rs75799355 ABCC10 Synonymous SNV I1141I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.57 92844 chr17 72436370 72436370 G A rs113307150 GPRC5C Nonsynonymous SNV R152Q 0.009 0.003 0.014 3 11 1 0.008 4 0 0 0 0 19.68 92845 chr17 43005637 43005637 T C rs573673245 KIF18B Nonsynonymous SNV E690G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.148 92846 chr6 70462210 70462210 T C LMBRD1 Nonsynonymous SNV I43V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 92847 chr17 43246906 43246906 C G rs146516847 HEXIM2 Stop gain Y219X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 92848 chr16 727045 727045 G A rs372614912 RHBDL1 Synonymous SNV K92K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.389 92849 chr17 4461658 4461658 C T GGT6 Nonsynonymous SNV V150I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.77 92850 chr16 72829324 72829324 G A ZFHX3 Synonymous SNV F1505F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.791 92851 chr17 72889676 72889676 - GGCTCCGTAGGTTCCATC FADS6 P15_A16insTEPMEP 0.006 0.003 0.007 1 7 1 0.003 2 0 0 1 0 92852 chr17 6515283 6515283 C T rs11868877 KIAA0753 Nonsynonymous SNV V202M 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 Benign 13.3 92853 chr16 334575 334575 C T rs201820740 PDIA2 Nonsynonymous SNV H130Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.33 92854 chr16 1493866 1493866 C T rs1011911464 CCDC154 Nonsynonymous SNV S52N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 92855 chr17 41106928 41106928 G A rs75434966 AARSD1, PTGES3L-AARSD1 Synonymous SNV N306N 0.011 0.008 0 4 13 3 0.01 0 0 0 0 0 8.524 92856 chr17 6663753 6663753 A G rs34195599 XAF1 Nonsynonymous SNV S44G 0.011 0.008 0.02 4 13 3 0.01 6 0 0 0 0 17.27 92857 chr16 57059318 57059318 G A rs148647729 NLRC5 Nonsynonymous SNV A155T 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 5.344 92858 chr17 73499826 73499826 C T rs753593121 CASKIN2 Nonsynonymous SNV G450R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 92859 chr16 16208739 16208739 C T rs199773531 ABCC1 Nonsynonymous SNV R1066W 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 35 92860 chr17 38487520 38487520 A G rs368040095 RARA Nonsynonymous SNV N17S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.129 92861 chr16 57731922 57731922 G A rs147737491 DRC7 Nonsynonymous SNV E21K 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 22.3 92862 chr16 78458807 78458807 C G rs7201683 WWOX Nonsynonymous SNV L103V 0.008 0.01 0.02 0 9 4 0 6 0 0 0 0 Benign 0.001 92863 chr6 83754169 83754169 G T rs142920762 UBE3D Nonsynonymous SNV S5Y 0.02 0.023 0.01 12 23 9 0.031 3 1 0 0 0 23.2 92864 chr16 4409346 4409346 G A rs199853197 CORO7, CORO7-PAM16 Nonsynonymous SNV S679F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 92865 chr6 84233901 84233901 T C rs757596962 PRSS35 Synonymous SNV P247P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 92866 chr16 1894886 1894886 C G rs375920721 MEIOB Nonsynonymous SNV S286T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.295 92867 chr17 73738798 73738798 C A rs146391318 ITGB4 Nonsynonymous SNV T973N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 92868 chr16 81324160 81324160 G A rs141781255 BCO1 Nonsynonymous SNV C541Y 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.86 92869 chr16 81712025 81712025 T G rs370956514 CMIP Nonsynonymous SNV S300A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.67 92870 chr16 58590823 58590823 G A CNOT1 Nonsynonymous SNV P803S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 18.84 92871 chr16 48292629 48292629 C G rs145961395 LONP2 Nonsynonymous SNV P190R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.27 92872 chr16 4908049 4908049 C A rs149069168 UBN1 Nonsynonymous SNV A103D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 92873 chr16 2049660 2049660 G A rs201087605 ZNF598 Synonymous SNV A630A 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 7.452 92874 chr6 54173355 54173355 A G rs16885197 TINAG Nonsynonymous SNV T3A 0.01 0.01 0.007 4 12 4 0.01 2 0 0 0 0 0.116 92875 chr16 84030864 84030864 G A rs138651354 NECAB2 Nonsynonymous SNV G197D 0.012 0.013 0.007 4 14 5 0.01 2 0 0 0 0 23.3 92876 chr17 7186827 7186827 G A rs143739087 SLC2A4 Synonymous SNV G62G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.686 92877 chr16 4940288 4940288 C T rs140546373 PPL Nonsynonymous SNV R737H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.22 92878 chr16 4953997 4953997 G A rs199816244 PPL Synonymous SNV D69D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.116 92879 chr16 4960852 4960852 C G rs142778222 PPL Nonsynonymous SNV S54T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.04 92880 chr16 67229794 67229802 CAGCAGCAG - rs765662164 E2F4 S317_S319del 0 0 0.003 4 0 0 0.01 1 0 0 0 0 92881 chr16 2134982 2134984 CTT - rs137854239 TSC2 F1266del 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 92882 chr16 68308702 68308704 GAA - rs563160341 SLC7A6 E26del 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 92883 chr17 72540977 72540977 G A rs372468549 CD300C Synonymous SNV C57C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.627 92884 chr16 69373102 69373102 C T rs376229451 COG8 Synonymous SNV L118L 0 0 0 5 0 0 0.013 0 0 0 0 0 Likely benign 15.5 92885 chr17 7499201 7499201 G T FXR2 Nonsynonymous SNV P258T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 92886 chr16 85699697 85699697 G C GSE1 Nonsynonymous SNV Q854H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 92887 chr17 4790965 4790965 - CAGCAGCAGCAGCTGCAG rs777118070 MINK1 Q380_R381insLQQQQQ 0.006 0.003 0 0 7 1 0 0 0 0 0 0 92888 chr16 85699901 85699901 G A GSE1 Synonymous SNV Q922Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.253 92889 chr17 7529902 7529902 G A rs13894 SAT2 Nonsynonymous SNV R171C 0.026 0.034 0.034 9 30 13 0.023 10 0 1 0 0 34 92890 chr16 86371461 86371461 G A rs62051157 LINC00917 0 0 0.027 0 0 0 0 8 0 0 1 0 0.743 92891 chr16 56904570 56904570 C T rs111578437 SLC12A3 Synonymous SNV N258N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 7.081 92892 chr6 109505176 109505176 A T rs113653563 CCDC162P 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 2.23 92893 chr17 4802111 4802111 C G rs139171143 CHRNE Nonsynonymous SNV V468L 0.016 0.021 0.003 8 19 8 0.021 1 0 0 0 0 Benign/Likely benign 14.41 92894 chr16 23494275 23494275 C T rs372821138 GGA2 Synonymous SNV A283A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.18 92895 chr16 23503017 23503017 A G rs768700830 GGA2 Synonymous SNV Y152Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.516 92896 chr16 8736330 8736330 C T rs118103574 METTL22 Synonymous SNV D306D 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 16.55 92897 chr17 76113890 76113890 C T rs760800225 TMC6 Nonsynonymous SNV V672I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.687 92898 chr17 7340551 7340551 G A TMEM102 Nonsynonymous SNV R418Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 92899 chr17 73498377 73498377 C T rs375853162 CASKIN2 Synonymous SNV A844A 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 5.053 92900 chr17 76157199 76157199 C A rs201222675 C17orf99 Nonsynonymous SNV H78Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.02 92901 chr16 25228689 25228689 G C rs143923104 AQP8 Synonymous SNV T61T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.006 92902 chr16 57847635 57847635 - GCAGGTGG rs5817121 LOC388282 0.076 0.094 0.007 34 89 36 0.087 2 4 2 1 0 92903 chr16 57847784 57847784 A G rs144914335 LOC388282 Nonsynonymous SNV R96G 0.02 0.023 0.02 6 24 9 0.015 6 1 0 0 0 0.354 92904 chr17 7644167 7644167 T C rs34511268 DNAH2 Nonsynonymous SNV Y516H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 21.3 92905 chr17 56293498 56293498 C T rs202112856 MKS1 Nonsynonymous SNV R113Q 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 Uncertain significance 23.1 92906 chr6 76660515 76660515 G T rs201155813 IMPG1 Nonsynonymous SNV P452T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 92907 chr16 88500957 88500957 C T rs76389306 ZNF469 Nonsynonymous SNV P2360L 0.012 0.008 0.007 4 14 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.182 92908 chr16 58074473 58074473 C T rs145328338 MMP15 Synonymous SNV L261L 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 11.78 92909 chr16 58292420 58292420 G A rs773212288 CCDC113 Nonsynonymous SNV R126H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.3 92910 chr16 88503174 88503174 G A rs922373058 ZNF469 Nonsynonymous SNV G3099E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.818 92911 chr16 2817510 2817510 C T rs148311081 SRRM2 Synonymous SNV S2327S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.851 92912 chr17 56699073 56699073 C T rs368711469 TEX14 Synonymous SNV K164K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 92913 chr16 88601281 88601281 A G rs141006889 ZFPM1 Nonsynonymous SNV N972S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.538 92914 chr17 76563248 76563248 C T rs765950730 DNAH17 Nonsynonymous SNV E429K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 92915 chr6 116574695 116574695 G C TSPYL4 Nonsynonymous SNV I159M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.241 92916 chr16 28916802 28916802 C A rs200118396 RABEP2 Nonsynonymous SNV R508S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 92917 chr17 7701525 7701525 G A rs35295135 DNAH2 Nonsynonymous SNV V2761M 0.009 0.01 0.007 2 11 4 0.005 2 0 0 0 0 24.5 92918 chr17 74078113 74078113 G A rs140797843 ZACN Nonsynonymous SNV G344E 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 20.5 92919 chr16 66842904 66842904 T C NAE1 Nonsynonymous SNV K320E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.79 92920 chr16 67000219 67000219 G C rs370983435 CES3 Nonsynonymous SNV G298R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22 92921 chr16 67234241 67234241 C G rs369252219 ELMO3 Synonymous SNV G130G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.33 92922 chr16 75574039 75574039 G A rs149118721 TMEM231 Synonymous SNV F321F 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign/Likely benign 11.48 92923 chr16 29821439 29821453 GCGGCAGCGGCAGCA - rs767330698 MAZ A139_A143del 0.003 0 0 0 4 0 0 0 0 0 0 0 92924 chr6 117198561 117198561 G A rs371890425 RFX6 Synonymous SNV P41P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 92925 chr17 41959687 41959687 G A rs148337292 MPP2 Synonymous SNV L205L 0.005 0 0.003 0 6 0 0 1 0 0 0 0 11.36 92926 chr17 75398332 75398332 C T rs78745349 SEPTIN9 Synonymous SNV L83L 0.004 0.003 0.017 0 5 1 0 5 0 0 0 0 Benign 13.79 92927 chr17 56056605 56056610 TGCTGC - VEZF1 Q353_Q354del 0.004 0 0 2 5 0 0.005 0 0 0 0 0 92928 chr6 123124942 123124942 A C rs62623431 SMPDL3A Nonsynonymous SNV E103D 0.01 0.008 0.01 2 12 3 0.005 3 0 0 1 0 22.3 92929 chr16 3079354 3079354 T C BICDL2 Nonsynonymous SNV K345R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.32 92930 chr16 30976989 30976989 C T rs139187973 SETD1A Nonsynonymous SNV P596L 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 17.7 92931 chr16 81232651 81232651 C G PKD1L2 Nonsynonymous SNV V387L 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 92932 chr6 127476488 127476488 T C RSPO3 Nonsynonymous SNV I180T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.52 92933 chr16 70726769 70726769 G A rs755516693 VAC14 Nonsynonymous SNV S480L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.6 92934 chr16 81411091 81411091 C G rs79901179 GAN Nonsynonymous SNV P562A 0.005 0.008 0.014 4 6 3 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 19.82 92935 chr16 89762090 89762090 G A rs56242003 CDK10 Nonsynonymous SNV C281Y 0 0 0.007 0 0 0 0 2 0 0 0 0 17.3 92936 chr6 105239465 105239465 C T rs142150565 HACE1 Nonsynonymous SNV V233I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 92937 chr16 31340609 31340609 G T rs61758333 ITGAM Nonsynonymous SNV M951I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.003 92938 chr17 76503612 76503612 G T rs576619394 DNAH17 Synonymous SNV I1504I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.47 92939 chr17 44117135 44117135 C T rs2277613 KANSL1 Synonymous SNV P712P 0.014 0.026 0.014 4 17 10 0.01 4 1 4 1 1 Benign 9.849 92940 chr6 106969085 106969085 G A rs150414602 CRYBG1 Synonymous SNV P926P 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 5.187 92941 chr6 131902362 131902362 G A rs749043086 ARG1 Synonymous SNV L103L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.335 92942 chr6 107351312 107351312 G A rs117058816 MTRES1 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 9.178 92943 chr17 60043912 60043912 A G MED13 Nonsynonymous SNV V1431A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 29.2 92944 chr16 9923394 9923394 T A rs749271779 GRIN2A Synonymous SNV V631V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.194 92945 chr17 61490945 61490945 A G TANC2 Nonsynonymous SNV M1240V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 19.73 92946 chr16 84182676 84182676 A G DNAAF1 Synonymous SNV K63K 0 0 0 4 0 0 0.01 0 0 0 0 0 1.553 92947 chr16 332092 332092 C T rs147346513 ARHGDIG Synonymous SNV V107V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.621 92948 chr16 72822010 72822033 GCTGCTGCTGCTGCTGTAGTTGCC - rs727502780 ZFHX3 R2467_Q2474del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 92949 chr17 4577884 4577884 C G rs76038822 PELP1 Synonymous SNV V501V 0.014 0.026 0 4 16 10 0.01 0 0 0 0 0 11.27 92950 chr17 78064149 78064150 AC - rs570440845 CCDC40 D1015Gfs*78 0.012 0.008 0.01 8 14 3 0.021 3 6 1 1 3 92951 chr17 8000062 8000062 G A rs148295244 ALOXE3 Synonymous SNV A672A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 9.16 92952 chr17 45821623 45821623 C T rs145872131 TBX21 Synonymous SNV D277D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.59 92953 chr16 72993097 72993097 A G rs117011203 ZFHX3 Synonymous SNV I316I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.012 92954 chr17 62022816 62022816 C G SCN4A Nonsynonymous SNV E1208D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.07 92955 chr6 139094629 139094629 - GGG rs111500978 GVQW2 0.02 0.023 0.003 16 24 9 0.041 1 0 1 0 0 92956 chr6 139094629 139094629 - GGGGG GVQW2 0.001 0 0 0 1 0 0 0 0 0 0 0 92957 chr6 110763657 110763657 G C SLC22A16 Nonsynonymous SNV L325V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.041 92958 chr17 12877456 12877456 C T ARHGAP44 Nonsynonymous SNV S325L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 92959 chr17 13446888 13446888 T A rs566671834 MIR548H3 0 0 0.003 0 0 0 0 1 0 0 0 0 5.204 92960 chr17 13446893 13446893 G A rs544630220 MIR548H3 0 0 0.003 0 0 0 0 1 0 0 0 0 4.376 92961 chr16 3640271 3640271 G T rs144647122 SLX4 Nonsynonymous SNV S1123Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 92962 chr17 1371342 1371342 C T rs147835827 MYO1C Nonsynonymous SNV A946T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.92 92963 chr17 80544006 80544006 C A rs7212607 FOXK2 Synonymous SNV V502V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 10.02 92964 chr17 46801698 46801698 C T PRAC2 Stop gain Q26X 0.002 0 0 0 2 0 0 0 0 0 0 0 6.522 92965 chr16 767096 767096 C G rs11553170 METRN Synonymous SNV V197V 0.013 0.018 0.007 3 15 7 0.008 2 0 0 0 0 0.923 92966 chr17 1553040 1553040 C T rs200942821 RILP Nonsynonymous SNV G20E 0.006 0.013 0.003 2 7 5 0.005 1 0 0 0 0 22.2 92967 chr17 7906468 7906468 C G GUCY2D Nonsynonymous SNV R35G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 92968 chr16 47117654 47117654 G A rs2231982 NETO2 Synonymous SNV G345G 0.014 0.016 0.014 7 17 6 0.018 4 0 0 0 0 7.572 92969 chr16 787267 787267 G A rs35987447 CIAO3 Synonymous SNV S75S 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 10.15 92970 chr17 72540757 72540757 C T rs565275112 CD300C Nonsynonymous SNV V131M 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 24.7 92971 chr17 8215755 8215755 C T rs115065009 ARHGEF15 Nonsynonymous SNV P133L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Likely benign 16.41 92972 chr16 87451307 87451307 C G rs13338940 ZCCHC14 Nonsynonymous SNV G381A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.718 92973 chr17 17069717 17069717 G A rs563696385 MPRIP Synonymous SNV P1636P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.471 92974 chr17 79954349 79954349 C T rs768743187 ASPSCR1 Nonsynonymous SNV S110L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 92975 chr17 72889676 72889676 - GGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC FADS6 P15_A16insTEPMEPTEPMEP 0.03 0.026 0.014 4 35 10 0.01 4 0 0 1 0 92976 chr17 79982622 79982622 G C rs369785505 LRRC45 Nonsynonymous SNV Q112H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 92977 chr17 17880976 17880976 G A rs746958523 DRC3 Nonsynonymous SNV V22I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.21 92978 chr17 80008349 80008349 C T RFNG Nonsynonymous SNV D168N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 92979 chr17 18049348 18049348 C T rs375805896 MYO15A Nonsynonymous SNV R2146W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 92980 chr17 6928518 6928518 G A rs759678478 BCL6B Synonymous SNV P296P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.21 92981 chr16 84031906 84031906 G A rs746473427 NECAB2 Nonsynonymous SNV V298M 0.003 0 0 0 4 0 0 0 1 0 0 0 23.2 92982 chr17 1841037 1841037 G A rs150719821 RTN4RL1 Nonsynonymous SNV R27W 0.017 0.013 0.02 1 20 5 0.003 6 0 0 0 0 23 92983 chr16 84094338 84094338 G A MBTPS1 Nonsynonymous SNV R885C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 92984 chr17 19216538 19216538 C A rs114905963 EPN2 Nonsynonymous SNV P80T 0.014 0.01 0.027 5 16 4 0.013 8 0 0 0 0 26.8 92985 chr17 48614405 48614405 G A rs755534358 EPN3 Nonsynonymous SNV S163N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 92986 chr17 73485440 73485440 C T rs368314581 TMEM94 Synonymous SNV P296P 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 14.9 92987 chr6 131191149 131191149 C T rs139708296 EPB41L2 Nonsynonymous SNV G249R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 92988 chr17 80579614 80579614 C T rs201780751 WDR45B Synonymous SNV T163T 0.001 0 0 0 1 0 0 0 0 0 0 0 19 92989 chr18 13885385 13885385 C T rs148298654 MC2R Nonsynonymous SNV V45I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 23.1 92990 chr17 71420175 71420175 C A rs35867741 SDK2 Nonsynonymous SNV R547L 0.02 0.008 0.007 3 23 3 0.008 2 0 0 0 0 27.3 92991 chr17 74133859 74133859 G A rs768830919 FOXJ1 Nonsynonymous SNV R281W 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 24 92992 chr16 89017006 89017006 G A rs540527895 LOC100129697 Synonymous SNV L160L 0.001 0 0.003 4 1 0 0.01 1 0 0 0 1 0.303 92993 chr17 55752319 55752319 C T rs781344636 MSI2 Synonymous SNV P255P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.74 92994 chr18 21746545 21746545 A T OSBPL1A Nonsynonymous SNV I373K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 92995 chr18 23615042 23615042 T C rs138607556 SS18 Synonymous SNV P310P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.078 92996 chr17 56387403 56387403 - TCC rs745797044 TSPOAP1 E1214_L1215insE 0.001 0 0 0 1 0 0 0 0 0 0 0 92997 chr16 57794739 57794739 G A KIFC3 Synonymous SNV L609L 0.004 0 0 0 5 0 0 0 0 0 0 0 10.29 92998 chr6 143091736 143091736 G A rs35406346 HIVEP2 Synonymous SNV T1380T 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign 2.287 92999 chr6 160328742 160328742 A G rs147267209 MAS1 Nonsynonymous SNV Y252C 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 Likely benign 24.1 93000 chr17 57759019 57759019 G A rs77062632 CLTC Synonymous SNV E1091E 0.017 0.029 0.007 4 20 11 0.01 2 0 1 0 0 9.586 93001 chr6 160564616 160564616 G A rs35956182 SLC22A1 Nonsynonymous SNV M440I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 29 93002 chr17 26554775 26554775 C T rs9897022 PYY2 0 0 0.105 0 0 0 0 31 0 0 5 0 10.99 93003 chr16 88500958 88500958 G A rs1040945200 ZNF469 Synonymous SNV P2360P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.771 93004 chr17 26695997 26695997 C T rs781794013 VTN Nonsynonymous SNV R241Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 93005 chr18 2939519 2939519 G C rs876660984 LPIN2 Nonsynonymous SNV H261D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.4 93006 chr17 26913009 26913009 C T rs374597210 SPAG5 Nonsynonymous SNV R538H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.631 93007 chr17 27437032 27437032 G A rs200969774 MYO18A Nonsynonymous SNV R1059C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 93008 chr17 60813617 60813617 C T rs371136845 MARCHF10 Nonsynonymous SNV E538K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 93009 chr16 88694347 88694347 C T rs367612793 ZC3H18 Synonymous SNV D763D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.38 93010 chr16 67000220 67000220 G A rs145692472 CES3 Nonsynonymous SNV G298E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.021 93011 chr17 61498435 61498435 C A rs769530798 TANC2 Nonsynonymous SNV P1698T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 93012 chr17 27959050 27959050 C T rs117922328 SSH2 Synonymous SNV G1027G 0.011 0.005 0.01 8 13 2 0.021 3 0 0 0 0 1.811 93013 chr18 31319561 31319561 G A rs61978635 ASXL3 Synonymous SNV V731V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 5.125 93014 chr16 88713533 88713533 T G rs11547387 CYBA Nonsynonymous SNV K60T 0.009 0.018 0.003 7 11 7 0.018 1 0 0 0 0 Benign/Likely benign 3.323 93015 chr18 31323516 31323516 C A ASXL3 Nonsynonymous SNV S1235Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 93016 chr18 19031072 19031072 G A GREB1L Synonymous SNV K603K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.75 93017 chr17 61903631 61903631 G A rs766537780 FTSJ3 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 93018 chr6 167347590 167347590 T G RNASET2 Nonsynonymous SNV N161H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 93019 chr6 167550824 167550824 C T rs17860852 CCR6 Nonsynonymous SNV A369V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 11.39 93020 chr17 29185284 29185284 C G rs151063914 ATAD5 Nonsynonymous SNV L967V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 93021 chr17 62045555 62045555 G A rs7218917 SCN4A Synonymous SNV N288N 0.046 0.039 0.027 18 54 15 0.046 8 1 0 0 0 Benign 9.062 93022 chr16 67682337 67682337 C T CARMIL2 Synonymous SNV F457F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 93023 chr16 88801125 88801125 C T PIEZO1 Nonsynonymous SNV V644I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 93024 chr17 73887368 73887368 T C rs368015889 TRIM65 Nonsynonymous SNV Q327R 0.003 0 0 4 4 0 0.01 0 0 0 0 0 19.16 93025 chr17 6373664 6373664 C T rs767619664 PITPNM3 Synonymous SNV T527T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 93026 chr18 34261511 34261511 C T rs9964535 FHOD3 Nonsynonymous SNV R475W 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 34 93027 chr18 3508653 3508653 C T rs541412321 DLGAP1 Nonsynonymous SNV G527E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 93028 chr17 15554792 15554792 G A rs61738421 TRIM16 Synonymous SNV D44D 0.018 0.013 0.007 6 21 5 0.015 2 0 0 0 0 9.094 93029 chr16 69007951 69007951 G A rs201617054 TANGO6 Nonsynonymous SNV V908I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.04 93030 chr18 28980932 28980932 T C rs748330012 DSG4 Nonsynonymous SNV S456P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 27.7 93031 chr6 158923247 158923247 C T rs201087459 TULP4 Nonsynonymous SNV P851L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.1 93032 chr6 159181740 159181740 C T rs117895837 SYTL3 Synonymous SNV L253L 0.006 0 0.003 4 7 0 0.01 1 0 0 0 0 8.082 93033 chr16 89346985 89346985 C T rs755371317 ANKRD11 Nonsynonymous SNV E1989K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 93034 chr18 46162993 46162993 G A rs35875164 CTIF Synonymous SNV A63A 0.014 0.013 0.003 6 16 5 0.015 1 0 0 0 0 Benign 16.63 93035 chr18 46196971 46196971 G C rs78396863 MIR4743 0.022 0.023 0.01 7 26 9 0.018 3 0 0 0 0 1.834 93036 chr17 34236746 34236746 C T rs11653282 LRRC37A8P 0 0 0.014 0 0 0 0 4 0 0 1 0 3.564 93037 chr17 34236760 34236760 G A rs11653016 LRRC37A8P 0 0 0.01 0 0 0 0 3 0 0 1 0 3.792 93038 chr18 31311939 31311939 G A rs770948375 ASXL3 Nonsynonymous SNV S296N 0.002 0 0 0 2 0 0 0 0 0 0 0 27 93039 chr7 1976340 1976340 G A rs373139029 MAD1L1 Nonsynonymous SNV S53L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 93040 chr7 2472832 2472832 C T rs140680045 CHST12 Synonymous SNV S186S 0.004 0 0 0 5 0 0 0 0 0 0 0 9.991 93041 chr7 2649686 2649686 C T rs368687600 IQCE Nonsynonymous SNV P595S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.077 93042 chr17 76187108 76187108 G C rs77585764 AFMID Nonsynonymous SNV A41P 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 23.5 93043 chr17 3566642 3566642 A G rs8069855 P2RX5-TAX1BP3 0 0 0.014 0 0 0 0 4 0 0 2 0 3.706 93044 chr17 7989362 7989362 G A rs116399915 ALOX12B Synonymous SNV Y108Y 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign/Likely benign 10.39 93045 chr16 72828058 72828058 T G ZFHX3 Synonymous SNV A1927A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.248 93046 chr18 346701 346701 G A rs778854178 COLEC12 Synonymous SNV N307N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.571 93047 chr16 74526942 74526942 A G rs757021821 GLG1 Nonsynonymous SNV Y372H 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 93048 chr18 43496539 43496539 G A rs78339727 EPG5 Nonsynonymous SNV S1083L 0.023 0.01 0.017 6 27 4 0.015 5 1 0 0 0 Benign 24.8 93049 chr18 43508856 43508856 C G rs3744999 EPG5 Nonsynonymous SNV E844D 0.026 0.01 0.031 7 30 4 0.018 9 1 0 0 0 Benign 7.675 93050 chr17 18833945 18833945 G A rs369494796 PRPSAP2 Synonymous SNV A308A 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 14.77 93051 chr16 75263435 75263435 C T rs767650586 BCAR1 Nonsynonymous SNV V653I 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 93052 chr17 37369804 37369804 C T rs762747972 STAC2 Nonsynonymous SNV D175N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 93053 chr17 3776707 3776707 - A CAMKK1 Frameshift insertion G349Vfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 93054 chr17 3776709 3776709 A G CAMKK1 Synonymous SNV Y348Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.224 93055 chr18 56203470 56203470 C T rs771196152 ALPK2 Nonsynonymous SNV E1317K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.752 93056 chr17 20130771 20130771 G A rs199989384 SPECC1 Nonsynonymous SNV A556T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 23.2 93057 chr17 76799826 76799826 C A rs150813194 USP36 Synonymous SNV V817V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 11.31 93058 chr17 7187299 7187299 C T rs143663296 SLC2A4 Nonsynonymous SNV T152I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.64 93059 chr6 167719404 167719404 C A rs762041487 UNC93A Nonsynonymous SNV S239Y 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 26.9 93060 chr17 7750178 7750180 ACC - rs771440621 KDM6B P264del 0.003 0.008 0 0 3 3 0 0 0 1 0 0 93061 chr7 6731866 6731866 A G rs61731529 ZNF12 Nonsynonymous SNV M236T 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 10.56 93062 chr17 78055751 78055751 C T rs376363442 CCDC40 Nonsynonymous SNV T628M 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 0.455 93063 chr17 8192377 8192377 G T rs140704891 RANGRF Stop gain E61X 0.003 0.013 0 1 4 5 0.003 0 0 1 0 0 Benign/Likely benign 36 93064 chr17 78078656 78078656 G A rs1800299 GAA Nonsynonymous SNV D91N 0.009 0.008 0.017 5 11 3 0.013 5 0 0 0 0 Benign/Likely benign, other 25 93065 chr17 78086450 78086450 G A rs144731405 GAA Nonsynonymous SNV A610T 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 22.4 93066 chr6 170594694 170594694 G A DLL1 Synonymous SNV N275N 0.001 0 0 6 1 0 0.015 0 0 0 0 0 8.846 93067 chr16 816742 816742 C T rs112462618 MSLN Synonymous SNV A443A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.005 93068 chr17 7287508 7287508 C A rs202168935 TNK1 Synonymous SNV R268R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 22 93069 chr7 591066 591066 C T rs147220037 PRKAR1B Synonymous SNV E311E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 16.18 93070 chr17 7292170 7292170 G A TNK1 Nonsynonymous SNV G619R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 93071 chr7 635835 635835 G A rs781497728 PRKAR1B Nonsynonymous SNV T219M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.6 93072 chr17 3926081 3926081 G C rs72827323 ZZEF1 Synonymous SNV T2378T 0.002 0.008 0.014 1 2 3 0.003 4 0 0 0 0 10.94 93073 chr16 836035 836035 G A rs955947784 RPUSD1 Nonsynonymous SNV P156L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.899 93074 chr18 61390515 61390515 T C rs34811964 SERPINB11 Nonsynonymous SNV I179T 0.016 0.021 0.02 6 19 8 0.015 6 0 0 0 0 21 93075 chr7 21658745 21658745 A G rs72657315 DNAH11 Nonsynonymous SNV T1428A 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 Benign 22.3 93076 chr17 7837803 7837803 G A rs763290328 CNTROB Nonsynonymous SNV A126T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.385 93077 chr7 1590614 1590614 T C rs763462861 TMEM184A Nonsynonymous SNV Y75C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 93078 chr18 59780429 59780429 C T rs370794466 PIGN Nonsynonymous SNV A458T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 93079 chr17 79093370 79093370 G A rs548952463 AATK Synonymous SNV F1195F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.09 93080 chr17 18167400 18167400 G A rs202127880 MIEF2 Nonsynonymous SNV A205T 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 0.037 93081 chr18 13124693 13124693 C T rs200706653 CEP192 Nonsynonymous SNV A2513V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 26.4 93082 chr17 26940607 26940607 G A rs145445550 RSKR Nonsynonymous SNV R59W 0.007 0.016 0.003 9 8 6 0.023 1 0 1 0 0 14.52 93083 chr17 39538276 39538276 G A rs144045423 KRT34 Nonsynonymous SNV R117C 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 29.1 93084 chr17 39551315 39551315 G C rs773503630 KRT31 Nonsynonymous SNV D294E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.641 93085 chr7 3991493 3991493 C T rs76259242 SDK1 Nonsynonymous SNV A364V 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 20.9 93086 chr17 28378221 28378221 G A rs148490262 EFCAB5 Nonsynonymous SNV R373Q 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 26.7 93087 chr7 4801973 4801973 G A rs15715 FOXK1 Nonsynonymous SNV A694T 0.009 0.01 0.007 1 10 4 0.003 2 0 0 0 0 21.5 93088 chr18 72020849 72020849 T C C18orf63 Synonymous SNV N449N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.335 93089 chr17 73999328 73999328 G A rs34670267 CDK3 Nonsynonymous SNV R214H 0.003 0 0 0 4 0 0 0 0 0 0 0 24 93090 chr17 7980404 7980404 G A rs112835279 ALOX12B Synonymous SNV H393H 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign/Likely benign 8.55 93091 chr17 79866494 79866494 A C rs775866125 PCYT2 Synonymous SNV T65T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.079 93092 chr18 72997828 72997828 C A rs138506259 TSHZ1 Nonsynonymous SNV P156T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 93093 chr18 72997845 72997845 C G rs143523598 TSHZ1 Synonymous SNV P161P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.078 93094 chr18 74631847 74631847 G A rs201060329 ZNF236 Synonymous SNV P1130P 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 9.307 93095 chr16 87760469 87760469 G T rs761606116 KLHDC4 Nonsynonymous SNV L164M 0.002 0 0 0 2 0 0 0 0 0 0 0 26 93096 chr17 40330854 40330854 G A rs746019611 KCNH4 Synonymous SNV G89G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 93097 chr7 7413058 7413058 G A rs201312809 COL28A1 Nonsynonymous SNV R827W 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 25.3 93098 chr18 77894088 77894088 G A rs199817181 ADNP2 Synonymous SNV T264T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.554 93099 chr7 33148951 33148951 C T rs775870239 RP9 Nonsynonymous SNV A12T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.36 93100 chr17 41342737 41342737 G A rs200554551 NBR1 Synonymous SNV P248P 0.009 0.008 0.007 6 10 3 0.015 2 0 0 0 0 Benign 11.9 93101 chr18 8825081 8825081 C T rs148702862 MTCL1 Synonymous SNV R1191R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 93102 chr18 30847180 30847180 C T rs58448816 CCDC178 Nonsynonymous SNV D420N 0.017 0.016 0.02 5 20 6 0.013 6 0 0 0 0 0.002 93103 chr17 76230683 76230683 G A rs902763084 TMEM235 Nonsynonymous SNV R67H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 93104 chr17 76433931 76433931 C T rs141152238 DNAH17 Nonsynonymous SNV R3942Q 0.005 0 0 0 6 0 0 0 0 0 0 0 21.5 93105 chr7 36396664 36396664 T C rs35828246 KIAA0895 Nonsynonymous SNV I187M 0.015 0.008 0.01 5 18 3 0.013 3 0 0 0 0 12.1 93106 chr17 42398536 42398536 A C rs11545312 SLC25A39 Nonsynonymous SNV V171G 0 0 0.007 0 0 0 0 2 0 0 0 0 15.34 93107 chr17 42739756 42739756 T G rs914948943 MEIOC Nonsynonymous SNV D92E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 93108 chr17 34853485 34853485 G A rs150483532 ZNHIT3 Nonsynonymous SNV A108T 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 2.259 93109 chr17 43111622 43111622 G T DCAKD Synonymous SNV L83L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 93110 chr17 25630435 25630435 A G rs772856342 WSB1 Synonymous SNV L84L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.617 93111 chr18 8806925 8806925 A G rs34877994 MTCL1 Nonsynonymous SNV K824R 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 7.552 93112 chr17 263336 263336 C T rs782782049 C17orf97 Synonymous SNV G234G 0.028 0.021 0.007 14 33 8 0.036 2 3 0 0 0 10.12 93113 chr7 21469872 21469872 A G rs750232765 SP4 Synonymous SNV Q346Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.034 93114 chr18 9254857 9254857 C G rs7243088 ANKRD12 Nonsynonymous SNV T508S 0.009 0.008 0.003 0 10 3 0 1 0 0 0 0 2.972 93115 chr18 43529548 43529548 G A rs145998030 EPG5 Synonymous SNV L467L 0.022 0.036 0.044 9 26 14 0.023 13 1 1 1 0 Benign 5.146 93116 chr16 88891198 88891198 T G rs749578474 GALNS Nonsynonymous SNV N222H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 24 93117 chr17 27614733 27614733 G A rs138489543 NUFIP2 Synonymous SNV G93G 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 8.6 93118 chr17 4636237 4636237 C G rs772293803 MED11 Nonsynonymous SNV P74A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.119 93119 chr7 23205403 23205403 G A KLHL7 Synonymous SNV L341L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.07 93120 chr7 23340492 23340492 G A rs760923139 MALSU1 Nonsynonymous SNV M97I 0 0 0 2 0 0 0.005 0 0 0 0 0 19.47 93121 chr19 10102492 10102492 G A rs151176273 COL5A3 Nonsynonymous SNV P640L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24 93122 chr7 23509670 23509670 A G IGF2BP3 Synonymous SNV S20S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.187 93123 chr18 52937105 52937105 G A rs780424841 TCF4 Synonymous SNV T133T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 93124 chr16 89805935 89805935 G T rs755375493 FANCA Nonsynonymous SNV R1321S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 93125 chr16 89986091 89986091 G A rs11547464 MC1R Nonsynonymous SNV R142H 0.019 0.005 0.014 5 22 2 0.013 4 0 0 0 0 Benign/Likely benign 32 93126 chr17 48249147 48249147 C T rs202159116 HILS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.504 93127 chr19 10394938 10394938 G A rs201771459 ICAM1 Synonymous SNV T289T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.74 93128 chr17 4843189 4843189 C T rs150814582 SLC25A11 Nonsynonymous SNV S6N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 93129 chr17 33289437 33289437 C T rs370337632 ZNF830 Synonymous SNV V284V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.15 93130 chr17 48753720 48753722 ACA - ABCC3 N1051del 0 0 0.003 0 0 0 0 1 0 0 0 0 93131 chr19 10794413 10794413 A G rs139961882 ILF3 Synonymous SNV R655R 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 Benign 10.03 93132 chr17 48918275 48918275 C T rs139049586 WFIKKN2 Synonymous SNV P449P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 2.609 93133 chr17 489533 489533 G A rs371670274 VPS53 Synonymous SNV Y401Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.07 93134 chr17 33690825 33690825 A T rs201605736 SLFN11 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 93135 chr17 1132833 1132833 G T rs115520784 ABR Nonsynonymous SNV A31E 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign 9.923 93136 chr17 11778483 11778483 C T rs145738103 DNAH9 Nonsynonymous SNV T3487M 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 22.8 93137 chr17 1265304 1265304 - A rs543499657 YWHAE 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 93138 chr17 80016034 80016034 G A rs113065692 DUS1L Nonsynonymous SNV T460I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 93139 chr17 5364393 5364393 A G rs141223137 DHX33 Nonsynonymous SNV F66L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 32 93140 chr7 56183895 56183895 C A rs190448728 NUPR2 Nonsynonymous SNV R38L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 22.6 93141 chr17 54431314 54431314 G A rs200163526 ANKFN1 Nonsynonymous SNV E173K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 93142 chr18 60230244 60230244 A G rs147517189 ZCCHC2 Nonsynonymous SNV N518S 0.009 0.013 0.01 1 11 5 0.003 3 0 0 0 0 0.001 93143 chr17 34893655 34893655 C G rs61755368 PIGW Nonsynonymous SNV H235Q 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Benign/Likely benign 24.6 93144 chr7 43547658 43547658 A G rs200912368 HECW1 Nonsynonymous SNV N1231S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 26.7 93145 chr19 12297520 12297520 A C rs142957711 ZNF136 Nonsynonymous SNV E43D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.237 93146 chr17 3524695 3524695 G A rs147149189 SHPK Nonsynonymous SNV S220L 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 22.9 93147 chr7 43921261 43921261 T C rs41279597 URGCP, URGCP-MRPS24 Nonsynonymous SNV T58A 0.016 0.016 0.02 2 19 6 0.005 6 1 0 0 0 13.23 93148 chr19 11727971 11727971 C T ZNF627 Nonsynonymous SNV T108I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 93149 chr17 1631749 1631751 GAG - rs759330994 WDR81 E1169del 0.004 0 0.003 0 5 0 0 1 0 0 0 0 93150 chr17 56604174 56604174 G A SEPTIN4 Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.539 93151 chr7 73932521 73932521 C T rs138935107 GTF2IRD1 Synonymous SNV L190L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.83 93152 chr17 36718163 36718163 C T rs377230656 SRCIN1 Synonymous SNV A412A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.43 93153 chr17 17067709 17067709 G A rs749848879 MPRIP Nonsynonymous SNV R967H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.02 93154 chr19 14043544 14043544 C T rs138402331 PODNL1 Nonsynonymous SNV V414I 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 0.002 93155 chr7 75442725 75442725 G A rs150796882 CCL24 Synonymous SNV P30P 0.009 0.013 0.003 4 10 5 0.01 1 0 0 0 0 0.577 93156 chr19 1272430 1272430 A G rs138494654 CIRBP Synonymous SNV T294T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.782 93157 chr17 37564496 37564496 G A rs569240327 MED1 Synonymous SNV D1326D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.472 93158 chr18 72020840 72020840 G A rs6566798 C18orf63 Nonsynonymous SNV M446I 0.008 0.003 0.017 4 9 1 0.01 5 0 0 0 0 13.07 93159 chr19 13867018 13867018 C G rs12974461 CCDC130 Nonsynonymous SNV S22C 0.01 0.023 0.007 1 12 9 0.003 2 0 0 0 0 28.8 93160 chr17 18054500 18054500 C G rs201119351 MYO15A Nonsynonymous SNV T2517S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.101 93161 chr17 18061059 18061059 G A rs780884451 MYO15A Nonsynonymous SNV G2938R 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 25.2 93162 chr18 10773452 10773452 C G rs750411760 PIEZO2 Nonsynonymous SNV G890R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 93163 chr19 15296080 15296080 G A rs772155427 NOTCH3 Nonsynonymous SNV P762S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.957 93164 chr18 77107824 77107824 A T rs760998248 ATP9B Nonsynonymous SNV I913L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 93165 chr17 64684516 64684516 T C PRKCA Synonymous SNV F261F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.654 93166 chr17 20914547 20914547 G C rs118038927 USP22 Synonymous SNV P340P 0.01 0.016 0.01 5 12 6 0.013 3 0 1 0 0 11.12 93167 chr17 39092741 39092741 C T rs139361222 KRT23 Nonsynonymous SNV G39R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 93168 chr18 77798609 77798609 G A rs143262320 RBFA Synonymous SNV A161A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.273 93169 chr18 56646309 56646309 G A rs150227935 ZNF532 Nonsynonymous SNV R790H 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 35 93170 chr17 6683454 6683454 G A rs549708601 FBXO39 Synonymous SNV L89L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.48 93171 chr7 92734064 92734064 A G rs150107667 SAMD9 Synonymous SNV N449N 0.01 0.008 0.007 5 12 3 0.013 2 0 0 0 0 Benign 0.001 93172 chr7 92735154 92735154 G A rs147157740 SAMD9 Nonsynonymous SNV S86F 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 Benign 7.357 93173 chr7 64292303 64292303 G T rs138905610 ZNF138 Nonsynonymous SNV C81F 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 23.8 93174 chr19 1010436 1010436 A G TMEM259 Synonymous SNV S592S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.503 93175 chr18 2738511 2738511 T C rs775223218 SMCHD1 Synonymous SNV D1131D 0.005 0 0 0 6 0 0 0 0 0 0 0 4.638 93176 chr18 2796014 2796014 A G rs369084979 SMCHD1 Synonymous SNV Q1929Q 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 0.12 93177 chr7 94055755 94055755 C T rs62001059 COL1A2 Synonymous SNV G1006G 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign/Likely benign 14.55 93178 chr19 10224590 10224590 G A rs199795427 P2RY11, PPAN-P2RY11 Nonsynonymous SNV A101T 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 10.45 93179 chr19 17039023 17039023 A C rs114850578 CPAMD8 Nonsynonymous SNV S1056A 0.012 0.013 0.017 6 14 5 0.015 5 0 0 0 0 Benign 23.6 93180 chr17 2268594 2268594 A G rs117713123 SGSM2 Nonsynonymous SNV Y416C 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 22.8 93181 chr7 99725365 99725365 A C MBLAC1 Nonsynonymous SNV H116P 0.006 0 0 2 7 0 0.005 0 0 0 0 0 24 93182 chr7 100151771 100151771 C T AGFG2 Nonsynonymous SNV P214L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 93183 chr18 31324350 31324350 C G rs749918007 ASXL3 Nonsynonymous SNV P1513R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.44 93184 chr7 75508445 75508445 C T rs190871206 RHBDD2 Synonymous SNV P15P 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 21.5 93185 chr7 76029706 76029706 G A rs146084521 SSC4D Synonymous SNV N124N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.51 93186 chr19 17397477 17397477 - TGTT rs748471523 ANKLE1 Frameshift insertion C584Ffs*42 0.019 0.021 0.003 6 22 8 0.015 1 0 0 0 0 93187 chr17 72860109 72860109 C G rs34232683 FDXR Synonymous SNV G321G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.41 93188 chr19 17559077 17559077 C T rs1057246643 TMEM221 Synonymous SNV G65G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 93189 chr19 17566610 17566610 T C rs10408265 NXNL1 Nonsynonymous SNV N162S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.61 93190 chr19 17622678 17622678 G A PGLS Nonsynonymous SNV G66E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 93191 chr19 1754615 1754615 C T rs370471416 ONECUT3 Synonymous SNV A318A 0.015 0.018 0.007 10 18 7 0.026 2 0 0 0 0 18.13 93192 chr17 29849045 29849045 C T rs112868877 RAB11FIP4 Synonymous SNV L31L 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 17.6 93193 chr19 1065123 1065123 G A ABCA7 Nonsynonymous SNV E2080K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.09 93194 chr17 31072249 31072249 G A rs184280157 MYO1D Synonymous SNV F531F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 93195 chr17 31098171 31098171 T A rs61740314 MYO1D Nonsynonymous SNV N229I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.52 93196 chr17 47241577 47241577 C T rs139177834 B4GALNT2 Synonymous SNV S298S 0.001 0 0 6 1 0 0.015 0 0 0 0 0 4.505 93197 chr7 81358965 81358965 C T rs1016906881 HGF Synonymous SNV Q332Q 0.003 0 0 5 3 0 0.013 0 0 0 0 0 14.36 93198 chr18 74153348 74153348 G T rs762206848 ZNF516 Nonsynonymous SNV R555S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 93199 chr17 31323988 31323988 C T rs16967849 SPACA3 Synonymous SNV N54N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.947 93200 chr17 40010172 40010172 T C rs146181967 KLHL11 Synonymous SNV Q649Q 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 0.008 93201 chr19 10781769 10781769 G C ILF3 Synonymous SNV A41A 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 9.482 93202 chr7 84629029 84629029 T C rs144931347 SEMA3D Synonymous SNV E687E 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.094 93203 chr17 40462531 40462531 C T rs2067694 STAT5A Synonymous SNV D713D 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Benign 11.57 93204 chr19 17885061 17885061 C T rs144767216 FCHO1 Synonymous SNV F218F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.38 93205 chr17 73872539 73872539 C T rs113622800 TRIM47 Nonsynonymous SNV R269Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.72 93206 chr17 73998394 73998394 C T rs201794034 CDK3 Synonymous SNV D127D 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 18.88 93207 chr17 74148444 74148444 C T rs61760885 RNF157 Nonsynonymous SNV C616Y 0.001 0 0.01 4 1 0 0.01 3 0 0 0 0 25 93208 chr17 41352220 41352222 AGA - rs767761913 NBR1 K668del 0.001 0 0 0 1 0 0 0 0 0 0 0 93209 chr18 44624593 44624593 A - rs761225214 KATNAL2 S281Vfs*3 0.003 0 0 0 3 0 0 0 0 0 0 0 93210 chr19 12223153 12223153 C G rs138809921 ZNF788P Nonsynonymous SNV S264C 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 21.6 93211 chr19 1003221 1003221 C A rs35592366 GRIN3B Nonsynonymous SNV D173E 0.016 0.016 0.051 7 19 6 0.018 15 1 0 0 0 3.899 93212 chr17 48653130 48653130 G A rs116920450 CACNA1G Nonsynonymous SNV R456Q 0.003 0.008 0.003 6 4 3 0.015 1 0 0 0 0 Benign 16.13 93213 chr19 1003374 1003374 G A rs34585248 GRIN3B Synonymous SNV A224A 0.007 0.003 0.031 5 8 1 0.013 9 0 0 0 0 7.728 93214 chr17 48685305 48685305 C A rs60532742 CACNA1G Synonymous SNV R1487R 0 0 0 5 0 0 0.013 0 0 0 0 0 Benign 18.75 93215 chr19 1004687 1004687 T C rs12978900 GRIN3B Nonsynonymous SNV L396S 0.009 0.003 0.034 6 10 1 0.015 10 0 0 0 0 0.006 93216 chr7 92730745 92730745 C T rs34896991 SAMD9 Nonsynonymous SNV A1556T 0.01 0.008 0.027 5 12 3 0.013 8 0 0 0 0 Benign 12.85 93217 chr17 34856715 34856715 G A MYO19 Stop gain R578X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 93218 chr19 18699815 18699815 C G rs202026240 REX1BD Nonsynonymous SNV P37R 0.01 0.003 0 2 12 1 0.005 0 1 0 0 0 24.9 93219 chr17 35486328 35486328 G A ACACA Synonymous SNV Y1874Y 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 10.26 93220 chr17 42882847 42882847 C T rs774247414 GJC1 Synonymous SNV R113R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.328 93221 chr17 5012338 5012338 G A ZNF232 Nonsynonymous SNV P170S 0 0 0 4 0 0 0.01 0 0 0 0 0 13.72 93222 chr19 1010673 1010673 G A rs11540362 TMEM259 Synonymous SNV P513P 0.004 0.003 0.031 5 5 1 0.013 9 0 0 0 0 11.72 93223 chr19 1399190 1399190 G T rs200500835 GAMT Synonymous SNV I132I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.947 93224 chr19 14208433 14208433 G A rs769653802 PRKACA Synonymous SNV C276C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.313 93225 chr19 19766425 19766425 C T rs143798246 ATP13A1 Synonymous SNV R436R 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 15.07 93226 chr19 19656761 19656761 C T rs777653400 CILP2 Nonsynonymous SNV A1136V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.107 93227 chr19 14578707 14578707 G A rs35416389 PKN1 Nonsynonymous SNV R635Q 0.014 0.008 0.01 4 17 3 0.01 3 0 0 0 0 23.7 93228 chr19 21132497 21132497 A G rs148708334 ZNF85 Nonsynonymous SNV T329A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.64 93229 chr17 76496183 76496183 G A rs2028733 DNAH17-AS1 0 0 0.054 0 0 0 0 16 0 0 4 0 0.121 93230 chr17 7664159 7664159 C T rs368308627 DNAH2 Nonsynonymous SNV R963W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 93231 chr17 37864693 37864693 C T rs200102353 ERBB2 Synonymous SNV A115A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 20.4 93232 chr17 56277684 56277684 C T rs150579989 EPX Nonsynonymous SNV R546W 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 25.9 93233 chr17 56350196 56350196 G A rs119468010 MPO Nonsynonymous SNV R569W 0 0 0 4 0 0 0.01 0 0 0 0 0 Pathogenic 35 93234 chr19 10541700 10541700 C T PDE4A Synonymous SNV R60R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.69 93235 chr17 78064032 78064032 A G rs371158080 CCDC40 Nonsynonymous SNV Q976R 0.004 0.003 0.003 0 5 1 0 1 2 0 0 0 Benign 3.653 93236 chr17 58136791 58136791 C T rs375224986 HEATR6 Nonsynonymous SNV R572H 0 0 0 4 0 0 0.01 0 0 0 0 0 24.1 93237 chr17 78196475 78196475 A C rs141472706 SLC26A11 Nonsynonymous SNV M86L 0.012 0.008 0.007 8 14 3 0.021 2 0 0 0 0 3.985 93238 chr19 1094042 1094042 G A rs754136230 POLR2E Synonymous SNV D31D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.91 93239 chr19 31769007 31769007 C T rs200511665 TSHZ3 Synonymous SNV L564L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.17 93240 chr17 7852817 7852817 G A rs147569775 CNTROB Nonsynonymous SNV V923I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.365 93241 chr7 100686523 100686523 C T rs781506683 MUC17 Synonymous SNV P3942P 0.006 0 0 2 7 0 0.005 0 0 0 0 0 8.857 93242 chr7 100866968 100866968 C T rs755955655 ZNHIT1 Synonymous SNV A96A 0.006 0 0 2 7 0 0.005 0 0 0 0 0 20.8 93243 chr19 33183265 33183265 T C rs200767135 NUDT19 Synonymous SNV F133F 0.009 0.01 0.014 3 11 4 0.008 4 0 0 0 0 1.509 93244 chr17 79093316 79093316 G T rs367731967 AATK Synonymous SNV A1213A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.335 93245 chr19 16633996 16633996 G C rs371448176 CHERP Nonsynonymous SNV P616R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.6 93246 chr7 101848404 101848404 C T rs144081584 CUX1 Synonymous SNV S1039S 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 10.51 93247 chr7 101916639 101916639 C T rs782171972 CUX1 Nonsynonymous SNV R404C 0.005 0 0 0 6 0 0 0 0 0 0 0 35 93248 chr17 4872534 4872534 C T rs61743812 CAMTA2 Synonymous SNV A1122A 0.002 0.016 0.01 3 2 6 0.008 3 0 0 0 0 16.39 93249 chr17 4873394 4873394 G A rs777350901 MIR6865 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.206 93250 chr17 79095841 79095841 G T rs200822708 AATK Nonsynonymous SNV A529D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.66 93251 chr7 102036877 102036877 T G rs6951185 PRKRIP1 Nonsynonymous SNV S7A 0.026 0.023 0.048 10 30 9 0.026 14 0 0 0 0 4.901 93252 chr7 102106306 102106306 A G rs11538919 LRWD1 Synonymous SNV K41K 0.037 0.034 0.065 16 44 13 0.041 19 0 0 1 0 6.529 93253 chr7 102108263 102108263 A G rs35310665 LRWD1 Nonsynonymous SNV K72R 0.036 0.031 0.058 15 42 12 0.038 17 0 0 0 0 0.105 93254 chr19 34712455 34712455 G A rs935767263 LSM14A Nonsynonymous SNV E394K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 93255 chr18 677801 677801 G T rs201099212 ENOSF1 Stop gain C301X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 93256 chr17 39525726 39525726 G A rs145065247 KRT33B Stop gain Q93X 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 35 93257 chr19 13320184 13320184 G A rs745336852 CACNA1A Synonymous SNV R2157R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15 93258 chr19 35617630 35617630 G A rs774627994 LGI4 Synonymous SNV F281F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 93259 chr17 80038629 80038629 G A rs148481729 FASN Synonymous SNV T2255T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.27 93260 chr19 14164426 14164426 C T rs145735753 PALM3 Synonymous SNV A620A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.68 93261 chr19 14232424 14232424 G T rs768830404 ASF1B Synonymous SNV R108R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.86 93262 chr7 116918288 116918288 C T rs145648648 WNT2 Nonsynonymous SNV R335H 0.007 0 0 0 8 0 0 0 0 0 0 0 24 93263 chr19 36317420 36317420 A G rs151121915 NPHS1 Nonsynonymous SNV V1241A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 93264 chr17 65850150 65850150 A G BPTF Synonymous SNV L236L 0 0 0 3 0 0 0.008 0 0 0 0 0 2.421 93265 chr19 14752344 14752344 G C rs59183049 ADGRE3 Nonsynonymous SNV L253V 0.016 0.018 0.02 3 19 7 0.008 6 3 0 0 0 24.1 93266 chr7 117199645 117199647 TCT - rs113993960 CFTR F508del 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 93267 chr19 14876208 14876208 G T rs757107458 ADGRE2 Nonsynonymous SNV T277K 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.03 93268 chr17 8141897 8141897 C G rs78870822 CTC1 Nonsynonymous SNV S83T 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Benign/Likely benign 24.9 93269 chr17 679135 679135 C T rs764637083 GLOD4 Nonsynonymous SNV A40T 0 0 0 3 0 0 0.008 0 0 0 0 0 26 93270 chr17 56386231 56386231 C T rs61730226 TSPOAP1 Nonsynonymous SNV G1408S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.9 93271 chr17 6945936 6945936 C G rs199684329 SLC16A11 Nonsynonymous SNV D165H 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 26.9 93272 chr19 37309785 37309868 AAAGGTCTTTCCACATTCCTTACATTCATAGTTTCTCTCACCAGTATGAATTTTCTGATGTCGATTAAACTCTGAGCCATGAAG - ZNF790 L460_F487del 0.009 0.01 0.007 3 10 4 0.008 2 0 0 0 0 93273 chr7 100647611 100647611 G C rs113623897 MUC12 Synonymous SNV S4589S 0.03 0.047 0.014 18 35 18 0.046 4 14 8 2 8 0.149 93274 chr19 3753892 3753892 G A rs374545158 APBA3 Synonymous SNV I294I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.06 93275 chr17 41836082 41836082 C T rs17882143 SOST Nonsynonymous SNV V10I 0.017 0.034 0.01 4 20 13 0.01 3 0 0 0 0 Uncertain significance 2.401 93276 chr19 1912251 1912251 A G rs150715312 ADAT3 Nonsynonymous SNV K53E 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 23.5 93277 chr7 101844755 101844755 T G rs782144596 CUX1 Synonymous SNV P737P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.328 93278 chr19 19230963 19230963 G A rs373223048 TMEM161A Nonsynonymous SNV P303S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.475 93279 chr19 19256624 19256624 G C rs536681796 BORCS8-MEF2B, MEF2B Nonsynonymous SNV P326R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.31 93280 chr7 132193371 132193371 G A rs113830939 PLXNA4 Nonsynonymous SNV R28W 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 23 93281 chr7 102113002 102113002 C T rs764596350 LRWD1 Nonsynonymous SNV R394W 0 0 0 2 0 0 0.005 0 0 0 0 0 16.14 93282 chr18 19424154 19424154 G C rs562629953 MIB1 Nonsynonymous SNV Q717H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 93283 chr18 20832941 20832941 C T CABLES1 Synonymous SNV Y488Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 93284 chr19 19449719 19449719 C T rs117955413 MAU2 Synonymous SNV Y174Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 13.79 93285 chr19 16191823 16191823 C T TPM4 Nonsynonymous SNV L21F 0.003 0 0 0 3 0 0 0 0 0 0 0 7.532 93286 chr19 1037809 1037809 C T rs144570484 CNN2 Synonymous SNV A241A 0.01 0.008 0.007 0 12 3 0 2 0 0 0 0 15.2 93287 chr19 19744777 19744777 C T rs368761700 GMIP Synonymous SNV P740P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.58 93288 chr7 107423280 107423280 C G SLC26A3 Nonsynonymous SNV V425L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 93289 chr19 38896042 38896042 C T rs201635019 FAM98C Nonsynonymous SNV S205L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 93290 chr19 38901633 38901633 C T rs34377632 RASGRP4 Nonsynonymous SNV E431K 0.009 0.018 0.01 2 11 7 0.005 3 0 0 0 0 24.3 93291 chr17 62265555 62265555 C T rs34609149 TEX2 Synonymous SNV A799A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 14.68 93292 chr17 63530150 63530150 C T rs117688560 AXIN2 Nonsynonymous SNV S697N 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.38 93293 chr19 10610117 10610117 T G KEAP1 Nonsynonymous SNV E198A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 93294 chr19 10624713 10624713 G T rs142151258 S1PR5 Synonymous SNV R325R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.057 93295 chr7 115614265 115614265 T C rs771673754 TFEC Nonsynonymous SNV K76E 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 23.6 93296 chr17 7297515 7297516 AC - rs567033412 TMEM256-PLSCR3 0.004 0.003 0.007 7 5 1 0.018 2 0 0 0 0 93297 chr7 117230454 117230454 G C rs1800098 CFTR Nonsynonymous SNV G576A 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.18 93298 chr7 138944043 138944043 A G rs747840351 UBN2 Nonsynonymous SNV M278V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.625 93299 chr7 117232223 117232223 C T rs1800100 CFTR Nonsynonymous SNV R668C 0.005 0.005 0.01 4 6 2 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 33 93300 chr17 644611 644611 G A rs201486568 TLCD3A Nonsynonymous SNV R160Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 93301 chr19 21605976 21605976 A G rs151023708 ZNF493 Nonsynonymous SNV H44R 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 6.791 93302 chr18 29126108 29126108 T G rs142841727 DSG2 Nonsynonymous SNV V920G 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign/Likely benign 23.5 93303 chr7 140380883 140380883 C T rs143903675 ADCK2 Synonymous SNV P417P 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 17.5 93304 chr17 46002394 46002394 C A rs3190376 SP2 Synonymous SNV T494T 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 19.93 93305 chr17 73501639 73501639 G A rs778805420 CASKIN2 Nonsynonymous SNV T228M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 32 93306 chr18 29797059 29797059 G A rs200969642 MEP1B Nonsynonymous SNV R622Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 93307 chr19 21991372 21991372 T G ZNF43 Nonsynonymous SNV K424N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.1 93308 chr18 29850296 29850296 G A rs6506966 GAREM1 Synonymous SNV S539S 0.049 0.047 0.037 15 58 18 0.038 11 1 0 0 1 14.06 93309 chr17 65104819 65104819 G A rs202210643 HELZ Synonymous SNV L1506L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.727 93310 chr17 65104820 65104820 A G rs200331378 HELZ Synonymous SNV A1505A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.3 93311 chr19 2253732 2253732 G A rs74521370 JSRP1 Nonsynonymous SNV P108L 0.004 0.005 0.01 0 5 2 0 3 0 1 0 0 16.28 93312 chr18 3188891 3188891 G A rs374540941 MYOM1 Nonsynonymous SNV T209M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.15 93313 chr19 40030625 40030625 C T rs200885423 EID2 Nonsynonymous SNV R32Q 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 19.72 93314 chr19 12155165 12155165 C T rs115474292 ZNF878 Nonsynonymous SNV V351I 0.004 0.013 0 0 5 5 0 0 0 0 0 0 3.63 93315 chr19 12243710 12243710 C A ZNF20 Nonsynonymous SNV A428S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 93316 chr17 73927341 73927341 G A rs768799826 FBF1 Nonsynonymous SNV T66I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.51 93317 chr19 12461244 12461244 C T rs142102330 ZNF442 Synonymous SNV A316A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.59 93318 chr19 40478452 40478452 C T rs151282645 PSMC4 Synonymous SNV G104G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.647 93319 chr7 128486356 128486356 C T rs200237564 FLNC Synonymous SNV G1322G 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.586 93320 chr19 18099316 18099316 C T rs377482122 KCNN1 Synonymous SNV D384D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.26 93321 chr19 2435150 2435150 C T rs121912497 LMNB2 Nonsynonymous SNV R235Q 0.014 0.01 0 3 16 4 0.008 0 0 0 0 0 Benign 24.6 93322 chr19 18170773 18170773 A G rs199686420 IL12RB1 Synonymous SNV P638P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.029 93323 chr19 13065096 13065096 T C rs145414355 GADD45GIP1 Nonsynonymous SNV K199E 0.008 0 0.007 1 9 0 0.003 2 1 0 0 0 Benign 3.352 93324 chr19 40902776 40902776 C G rs146789340 PRX Nonsynonymous SNV E495Q 0.015 0.008 0.01 9 18 3 0.023 3 0 0 0 0 Benign 0.002 93325 chr7 129351401 129351401 C T rs750144891 NRF1 Synonymous SNV A189A 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 19.51 93326 chr7 130007276 130007276 C T rs150704097 CPA5 Nonsynonymous SNV P301L 0.009 0.003 0 5 11 1 0.013 0 0 0 0 0 18.12 93327 chr19 40883962 40883962 G A rs138694915 PLD3 Nonsynonymous SNV G452E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.12 93328 chr19 14042673 14042673 G A rs75502685 PODNL1 Synonymous SNV I541I 0.018 0.026 0 2 21 10 0.005 0 0 0 0 0 14.45 93329 chr17 48453136 48453136 T A rs150118812 EME1 Nonsynonymous SNV N189K 0.011 0.01 0.003 5 13 4 0.013 1 0 0 0 0 8.866 93330 chr18 45120649 45120650 TT - rs150016579 MIR4527HG 0 0 0.092 0 0 0 0 27 0 0 11 0 93331 chr18 47008746 47008746 G A rs151165044 C18orf32 Nonsynonymous SNV P67L 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 29.2 93332 chr7 149478001 149478001 G T SSPO 0.003 0.013 0 0 4 5 0 0 0 0 0 0 13.18 93333 chr7 149481954 149481954 G A rs778992476 SSPO 0.003 0.013 0 0 4 5 0 0 0 0 0 0 1.433 93334 chr18 48992247 48992247 G T rs75612819 LINC01630 0 0 0.031 0 0 0 0 9 0 0 1 0 1.951 93335 chr19 18557604 18557604 C T ELL Nonsynonymous SNV V496I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.55 93336 chr19 1912429 1912429 G T rs200992550 ADAT3 Nonsynonymous SNV R112L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.017 93337 chr7 149522213 149522213 G T SSPO 0.003 0.013 0 0 4 5 0 0 0 0 0 0 13.71 93338 chr19 33703231 33703231 T G rs894055965 SLC7A10 Nonsynonymous SNV N252T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 26.5 93339 chr19 33703242 33703242 C G rs1011148964 SLC7A10 Nonsynonymous SNV W248C 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 32 93340 chr19 21990464 21990464 G T rs80354263 ZNF43 Nonsynonymous SNV P727H 0.012 0.008 0 1 14 3 0.003 0 0 0 0 0 20.5 93341 chr18 56998754 56998754 C T rs149932943 LMAN1 Synonymous SNV P464P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12 93342 chr19 2278681 2278681 G A rs780116251 PEAK3 Nonsynonymous SNV R172C 0.002 0 0 0 2 0 0 0 0 0 0 0 31 93343 chr7 150644703 150644703 G T KCNH2 Nonsynonymous SNV P646T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 93344 chr7 142829211 142829211 T G rs200708544 PIP Star tloss M1? 0 0 0.003 4 0 0 0.01 1 0 0 0 0 24.6 93345 chr18 61232748 61232753 AGGCAC - rs764348817 SERPINB12 A260_Q261del 0 0 0.003 0 0 0 0 1 0 0 0 0 93346 chr17 78172312 78172312 G A rs140661251 CARD14 Synonymous SNV T354T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 12.01 93347 chr7 151478406 151478406 C T rs79474211 PRKAG2 Nonsynonymous SNV G56S 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 18.55 93348 chr19 44536798 44536798 G C rs146820867 ZNF222 Nonsynonymous SNV W364S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.624 93349 chr17 7346041 7346041 C T rs4151132 FGF11 Synonymous SNV G120G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.16 93350 chr17 59485864 59485864 G C rs761134753 TBX2 Nonsynonymous SNV K712N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 93351 chr17 73503209 73503209 G A rs755697016 CASKIN2 Synonymous SNV G82G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.08 93352 chr19 16640625 16640625 G A rs377587207 CHERP Synonymous SNV H321H 0.01 0.003 0 1 12 1 0.003 0 0 0 0 0 10.75 93353 chr18 68297756 68297756 C G rs983787186 GTSCR1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.047 93354 chr18 683343 683343 G A rs376721481 ENOSF1 Nonsynonymous SNV A79V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 93355 chr19 30193654 30193654 T C rs146170087 C19orf12 Nonsynonymous SNV K67E 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.78 93356 chr7 149484555 149484555 C T rs775344117 SSPO 0.006 0 0 1 7 0 0.003 0 0 0 0 0 16.65 93357 chr7 149500622 149500622 T C rs139882240 SSPO 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.93 93358 chr19 31768719 31768719 G A rs200760529 TSHZ3 Synonymous SNV S660S 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 0.565 93359 chr7 149511946 149511946 G A rs114122703 SSPO 0.001 0 0 3 1 0 0.008 0 0 0 0 0 3.987 93360 chr7 149514822 149514822 A T rs141999995 SSPO 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.931 93361 chr18 72244208 72244208 G A rs62621182 CNDP1 Nonsynonymous SNV D316N 0.017 0.005 0.034 3 20 2 0.008 10 0 0 0 0 21.1 93362 chr7 157985142 157985142 C T PTPRN2 Synonymous SNV E104E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.538 93363 chr19 37309781 37309781 G A rs79499850 ZNF790 Nonsynonymous SNV R489C 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 15.1 93364 chr7 150171242 150171242 C T rs76332991 GIMAP8 Synonymous SNV T275T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 10.72 93365 chr17 79684843 79684843 C T rs114621664 SLC25A10 Nonsynonymous SNV P192S 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 no interpretation for the single variant 16.02 93366 chr17 79981533 79981533 G A rs200245445 LRRC45 Nonsynonymous SNV R5Q 0.004 0 0 5 5 0 0.013 0 1 0 0 0 22.5 93367 chr7 150434700 150434700 A G rs11977474 GIMAP1-GIMAP5 Synonymous SNV G42G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.697 93368 chr8 2020542 2020542 C T rs34842328 MYOM2 Nonsynonymous SNV T304M 0.014 0.018 0.007 1 17 7 0.003 2 0 0 0 0 25.4 93369 chr17 80040522 80040522 G A rs145515446 FASN Nonsynonymous SNV R1934C 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 93370 chr7 150491156 150491156 T C rs28434777 TMEM176B Nonsynonymous SNV T70A 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 15.75 93371 chr7 150500534 150500534 G A rs35972858 TMEM176A Nonsynonymous SNV G111D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.8 93372 chr19 45153113 45153113 G C rs35959395 PVR Nonsynonymous SNV V154L 0.003 0 0 0 3 0 0 0 0 0 0 0 20.8 93373 chr17 66920848 66920848 G T rs545438229 ABCA8 Nonsynonymous SNV A479D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 93374 chr17 80382377 80382377 C T HEXD Synonymous SNV Y64Y 0.001 0 0 4 1 0 0.01 0 0 0 0 0 13.48 93375 chr17 67082787 67082787 T C rs138917560 ABCA6 Synonymous SNV A1303A 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 5.314 93376 chr7 150741142 150741142 T C rs758362569 ABCB8 Nonsynonymous SNV I529T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 26.6 93377 chr18 9886722 9886722 C T rs200597390 TXNDC2 Synonymous SNV A82A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.93 93378 chr19 45683032 45683032 G T rs201502372 BLOC1S3 Nonsynonymous SNV V160L 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Likely benign 19.25 93379 chr7 151273491 151273491 C A rs145029525 PRKAG2 Synonymous SNV A63A 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 Likely benign 12.78 93380 chr7 152373138 152373139 CT - XRCC2 E9Vfs*10 0.003 0 0 1 4 0 0.003 0 0 0 0 0 93381 chr17 6941925 6941925 T C rs375801566 SLC16A13 Synonymous SNV R266R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.072 93382 chr17 8160187 8160187 A T rs150236583 PFAS Synonymous SNV T327T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.446 93383 chr8 10465649 10465649 G A rs200846354 RP1L1 Stop gain Q1987X 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 35 93384 chr19 46375608 46375608 C T rs144459600 FOXA3 Synonymous SNV H115H 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 12.11 93385 chr17 71197654 71197654 C T rs375617141 COG1 Nonsynonymous SNV A563V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.7 93386 chr17 7127982 7127982 G A rs398123084 ACADVL Nonsynonymous SNV R545Q 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 93387 chr17 7750487 7750487 C A KDM6B Nonsynonymous SNV P325H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 93388 chr19 46915181 46915181 C T CCDC8 Nonsynonymous SNV G296E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 93389 chr19 47280614 47280614 G T SLC1A5 Synonymous SNV G167G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 93390 chr7 157985113 157985113 C T rs373081454 PTPRN2 Nonsynonymous SNV R114Q 0.003 0.008 0 6 3 3 0.015 0 0 1 0 0 1.089 93391 chr19 47285747 47285747 G A rs144011024 SLC1A5 Synonymous SNV I37I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 93392 chr7 158683997 158683997 C A rs140137568 WDR60 Nonsynonymous SNV D153E 0.006 0 0 3 7 0 0.008 0 0 0 0 0 0.005 93393 chr19 47575755 47575755 G A rs781267826 ZC3H4 Synonymous SNV P552P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.529 93394 chr17 72249282 72249282 C T TTYH2 Nonsynonymous SNV A120V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.6 93395 chr19 39667293 39667293 C T rs11559034 PAK4 Synonymous SNV L322L 0.002 0.005 0.007 4 2 2 0.01 2 0 0 0 0 14.04 93396 chr19 10449598 10449598 G A rs369091029 ICAM3 Nonsynonymous SNV R35W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 93397 chr19 48259787 48259787 C T rs11538664 NOP53 Synonymous SNV P433P 0.011 0.021 0.027 6 13 8 0.015 8 0 0 0 0 12.34 93398 chr8 17813148 17813148 A T rs201152704 PCM1 Synonymous SNV P486P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.998 93399 chr19 1132140 1132140 G A rs377714018 SBNO2 Synonymous SNV A19A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.968 93400 chr18 21662880 21662880 A G rs146357922 TTC39C Synonymous SNV L273L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.131 93401 chr17 72878731 72878731 C G rs540230751 FADS6 Nonsynonymous SNV C156S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 93402 chr8 18080308 18080308 A T rs56172717 NAT1 Nonsynonymous SNV D251V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.1 93403 chr19 11409577 11409577 C G rs570440838 TSPAN16 Nonsynonymous SNV I99M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 93404 chr19 40412150 40412150 C G rs140121542 FCGBP Nonsynonymous SNV G1160R 0 0.003 0 0 0 1 0 0 0 0 0 0 22 93405 chr19 48639372 48639372 C T rs139908769 LIG1 Nonsynonymous SNV G380R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 93406 chr17 72927152 72927152 G A rs143125362 OTOP2 Synonymous SNV Q474Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 93407 chr19 48643361 48643361 G A rs41542416 LIG1 Synonymous SNV S250S 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 16.41 93408 chr17 79173216 79173216 C A rs147932891 CEP131 Nonsynonymous SNV G386V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.231 93409 chr19 12222857 12222857 G A rs191530646 ZNF788P Synonymous SNV A165A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.138 93410 chr8 8749041 8749041 G T rs148315756 MFHAS1 Nonsynonymous SNV R510S 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 0.042 93411 chr19 12875632 12875632 C T rs200402327 HOOK2 Nonsynonymous SNV R606H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 93412 chr17 7330489 7330489 C T rs139959375 SPEM2 Synonymous SNV P393P 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 11.98 93413 chr19 32845600 32845600 G A rs117938843 ZNF507 Nonsynonymous SNV D622N 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 22.9 93414 chr19 49348831 49348831 C T rs144775663 PLEKHA4 Nonsynonymous SNV E512K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 93415 chr19 49357059 49357059 G A rs774888600 PLEKHA4 Synonymous SNV T377T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 93416 chr17 73888431 73888431 G A rs61755877 TRIM65 Nonsynonymous SNV R221W 0.007 0.005 0.017 3 8 2 0.008 5 0 0 0 0 24.5 93417 chr19 14829390 14829390 C T rs184335737 ZNF333 Synonymous SNV T186T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 93418 chr18 30926258 30926258 C A rs374969214 CCDC178 Nonsynonymous SNV R192I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 93419 chr19 15053149 15053149 G A rs199531499 OR7C2 Nonsynonymous SNV M283I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26 93420 chr18 32825837 32825837 A C rs775961597 ZNF397 Nonsynonymous SNV I390L 0 0 0 2 0 0 0.005 0 0 0 0 0 24 93421 chr19 49564630 49564630 G A rs200675509 NTF4 Nonsynonymous SNV R209W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 93422 chr19 41097004 41097004 G A rs758967644 SHKBP1 Nonsynonymous SNV R672Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 93423 chr19 34303802 34303802 G A rs141966235 KCTD15 Synonymous SNV R267R 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 7.845 93424 chr19 49657984 49657984 T C rs139144984 HRC Nonsynonymous SNV S171G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.735 93425 chr17 80543921 80543921 T C rs749636446 FOXK2 Nonsynonymous SNV V474A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 93426 chr19 49812952 49812952 G C rs77689038 SLC6A16 Nonsynonymous SNV L278V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.954 93427 chr19 43999668 43999668 C T rs372747796 PHLDB3 Synonymous SNV E310E 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 15.89 93428 chr8 17731876 17731876 A G rs34871936 FGL1 Synonymous SNV F133F 0.003 0.008 0.017 1 4 3 0.003 5 0 0 0 0 Benign 0.977 93429 chr19 50045979 50045979 C A rs146159696 RCN3 Nonsynonymous SNV N283K 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 13.32 93430 chr19 36042363 36042363 C T ATP4A Synonymous SNV Q957Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 93431 chr19 42181429 42181429 C T rs35494482 CEACAM7 Nonsynonymous SNV E237K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.498 93432 chr19 50216050 50216050 C A rs79488403 CPT1C Nonsynonymous SNV L693M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 24.6 93433 chr19 42187716 42187716 A G rs16975478 CEACAM7 Nonsynonymous SNV Y236H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.14 93434 chr19 42265953 42265953 C T rs7246116 CEACAM6 Synonymous SNV H260H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 15.44 93435 chr19 42266085 42266085 A G rs7246255 CEACAM6 Synonymous SNV S304S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.005 93436 chr17 8702375 8702375 C T rs200206293 MFSD6L Nonsynonymous SNV V22M 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 19.37 93437 chr19 42341351 42341351 G A rs34537433 LYPD4 Nonsynonymous SNV H168Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.87 93438 chr19 42342993 42342993 T G rs112654847 LYPD4 Nonsynonymous SNV Q58P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.013 93439 chr19 42343004 42343004 C T rs78978026 LYPD4 Synonymous SNV V54V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.04 93440 chr19 42408426 42408426 G A rs11083640 ARHGEF1 Synonymous SNV R651R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.74 93441 chr19 36250796 36250796 G A rs772773573 PROSER3 Nonsynonymous SNV S72N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 93442 chr18 10487990 10487990 A C rs376533264 APCDD1 Synonymous SNV A500A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.003 93443 chr18 46447775 46447775 C T rs143029140 SMAD7 Synonymous SNV P228P 0 0 0 3 0 0 0.008 0 0 0 0 0 12.68 93444 chr8 21924633 21924633 G A rs113145439 DMTN Nonsynonymous SNV R19Q 0.008 0.01 0.003 10 9 4 0.026 1 0 0 0 0 26.8 93445 chr8 21929924 21929924 A G rs113027572 DMTN Nonsynonymous SNV K191R 0.008 0.01 0.007 10 9 4 0.026 2 0 0 0 0 18.12 93446 chr18 11689823 11689823 G A rs181443061 GNAL Synonymous SNV E87E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 13.18 93447 chr8 21954017 21954017 C T rs117838157 FAM160B2 Synonymous SNV A98A 0.007 0.008 0 8 8 3 0.021 0 0 0 0 0 12.23 93448 chr8 21976710 21976710 T C rs7014851 HR Nonsynonymous SNV T1022A 0.01 0.013 0.003 12 12 5 0.031 1 0 0 0 0 Benign 0.003 93449 chr8 21978469 21978469 A G rs57903149 HR Synonymous SNV D790D 0.02 0.029 0.024 14 23 11 0.036 7 0 0 0 0 Benign 0.028 93450 chr8 21978578 21978578 A G rs58080661 HR Synonymous SNV S789S 0.02 0.029 0.024 14 23 11 0.036 7 0 0 0 0 Benign 5.729 93451 chr8 21978734 21978734 G A rs77689228 HR Synonymous SNV P737P 0.008 0.01 0 11 9 4 0.028 0 0 0 0 0 Benign 6.12 93452 chr18 12353095 12353095 G A rs185454855 AFG3L2 Synonymous SNV I409I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 93453 chr18 12421601 12421601 A G rs149706928 PRELID3A Synonymous SNV E67E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.937 93454 chr19 43998926 43998926 G A rs61732260 PHLDB3 Synonymous SNV L359L 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 3.215 93455 chr19 44031269 44031269 C A rs116440799 ETHE1 Nonsynonymous SNV A21S 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Benign/Likely benign 2.09 93456 chr8 39604145 39604145 G A rs200391854 ADAM2 Nonsynonymous SNV R655C 0.001 0 0 0 1 0 0 0 0 0 0 0 22 93457 chr18 51809261 51809261 G A rs201346546 POLI Nonsynonymous SNV R163H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.29 93458 chr19 44117843 44117843 T C rs11882268 SRRM5 Nonsynonymous SNV S524P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.45 93459 chr17 76817106 76817106 G A rs145087298 USP36 Synonymous SNV Y265Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 93460 chr19 44169522 44169522 T C rs399145 PLAUR Nonsynonymous SNV T86A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.743 93461 chr18 21660776 21660776 A G rs140104738 TTC39C Nonsynonymous SNV I230V 0.002 0 0 0 2 0 0 0 0 0 0 0 23 93462 chr18 23772312 23772312 T C rs762728942 PSMA8 Synonymous SNV Y230Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.32 93463 chr18 24127264 24127264 A C KCTD1 Nonsynonymous SNV C413G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.61 93464 chr17 77755788 77755788 C T rs200674923 CBX2 Nonsynonymous SNV P159L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.442 93465 chr19 44377991 44377991 G A rs78841585 ZNF404 Synonymous SNV N122N 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Likely benign 0.009 93466 chr19 44378009 44378009 A C rs74424854 ZNF404 Synonymous SNV P116P 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.001 93467 chr19 44378063 44378063 T C rs79324499 ZNF404 Synonymous SNV R98R 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 0.003 93468 chr19 44378224 44378224 T C rs77337446 ZNF404 Nonsynonymous SNV N45D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.022 93469 chr19 4510532 4510532 G - rs1045268630 PLIN4 P1147Hfs*20 0.002 0.003 0 0 2 1 0 0 0 0 0 0 93470 chr17 7810252 7810252 C T rs141697841 CHD3 Synonymous SNV A1582A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 93471 chr8 67478431 67478431 T G rs61729530 MYBL1 Nonsynonymous SNV E666D 0.009 0.023 0 5 10 9 0.013 0 1 1 0 0 25.1 93472 chr19 44514875 44514875 A G rs13345807 ZNF230 Synonymous SNV Q228Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 93473 chr8 67577670 67577670 G A rs3808602 VCPIP1 Synonymous SNV Y508Y 0.022 0.036 0.014 6 26 14 0.015 4 1 1 0 0 0.004 93474 chr8 67786817 67786817 C T rs116671744 MCMDC2 Nonsynonymous SNV T94M 0.018 0.031 0.007 6 21 12 0.015 2 1 1 0 0 24.3 93475 chr19 44535975 44535975 A G rs11880330 ZNF222 Nonsynonymous SNV K90E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.64 93476 chr19 4524005 4524005 G A rs146320009 PLIN5 Synonymous SNV P309P 0.014 0.021 0.02 8 17 8 0.021 6 0 0 0 0 6.203 93477 chr19 44536071 44536071 A G rs59926292 ZNF222 Nonsynonymous SNV R122G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.69 93478 chr17 78306068 78306068 C T rs139471994 RNF213 Synonymous SNV P1260P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 13.96 93479 chr19 45316704 45316704 T A rs28399656 BCAM Nonsynonymous SNV M204K 0.02 0.008 0.007 4 24 3 0.01 2 0 0 0 0 24.3 93480 chr19 44570957 44570957 A G rs60833312 ZNF223 Nonsynonymous SNV I326V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 93481 chr17 78353478 78353478 T C rs75161557 RNF213 Nonsynonymous SNV I4535T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.008 93482 chr18 30873231 30873231 T C CCDC178 Synonymous SNV S356S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.282 93483 chr17 78820290 78820290 C T rs375864642 RPTOR Synonymous SNV A410A 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 20.6 93484 chr19 44652980 44652980 G T rs201162038 ZNF234 Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.513 93485 chr19 44661948 44661948 A C rs190528267 ZNF234 Nonsynonymous SNV E593D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 93486 chr8 73850158 73850158 G A rs118058550 KCNB2 Synonymous SNV P856P 0.017 0.018 0.01 7 20 7 0.018 3 0 0 0 0 1.922 93487 chr17 79177380 79177380 G A rs375867858 CEP131 Synonymous SNV C181C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.21 93488 chr19 44793080 44793080 C G rs143059983 ZNF235 Nonsynonymous SNV E170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.467 93489 chr17 79207237 79207237 C T rs147617220 TEPSIN Nonsynonymous SNV R174H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.036 93490 chr19 2114245 2114245 G A rs201113408 AP3D1 Nonsynonymous SNV S827L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 12.01 93491 chr8 87242044 87242044 C T SLC7A13 Nonsynonymous SNV E155K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.989 93492 chr19 39913865 39913865 C T rs372365865 PLEKHG2 Nonsynonymous SNV P665L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.93 93493 chr8 88885457 88885457 A T rs771878516 DCAF4L2 Nonsynonymous SNV I248N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 93494 chr19 53345091 53345091 G A rs150110385 ZNF468 Synonymous SNV H152H 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 0.171 93495 chr8 38135857 38135857 A G rs199781541 NSD3 Synonymous SNV D1278D 0 0.008 0 2 0 3 0.005 0 0 0 0 0 8.751 93496 chr8 92201794 92201794 A C rs182104008 LRRC69 Synonymous SNV P76P 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 2.303 93497 chr19 23544759 23544759 T G rs780041403 ZNF91 Nonsynonymous SNV K309T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.44 93498 chr8 94746849 94746849 C T rs200747716 RBM12B Nonsynonymous SNV R597H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 93499 chr19 23844948 23844948 A C rs750407086 ZNF675 Nonsynonymous SNV V65G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.058 93500 chr19 53554084 53554084 G A rs767303595 ERVV-2 Nonsynonymous SNV R527Q 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 20.8 93501 chr18 44159600 44159600 T C rs756702284 LOXHD1 Nonsynonymous SNV K601R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.15 93502 chr18 44229197 44229197 C T rs200763838 LOXHD1 Nonsynonymous SNV G56S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.8 93503 chr19 24126321 24126321 G C rs115468727 ZNF726 Synonymous SNV L84L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.301 93504 chr8 42174380 42174380 G A rs56230731 IKBKB Synonymous SNV L359L 0.007 0.003 0.007 4 8 1 0.01 2 1 0 0 0 Benign 4.801 93505 chr17 8046974 8046974 G A rs201557454 PER1 Synonymous SNV G894G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 6.652 93506 chr19 45381721 45381721 T C rs79777075 NECTIN2 Synonymous SNV P428P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.882 93507 chr17 80863920 80863920 A G rs539457901 TBCD Nonsynonymous SNV Q638R 0.009 0.005 0.003 0 11 2 0 1 0 0 0 0 0.255 93508 chr8 61655544 61655544 A G rs773831895 CHD7 Nonsynonymous SNV Q518R 0 0 0 2 0 0 0.005 0 0 0 0 0 19.62 93509 chr8 104337548 104337548 G A rs150760762 FZD6 Nonsynonymous SNV R100Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.3 93510 chr19 41932602 41932602 C T rs140645718 B3GNT8 Nonsynonymous SNV E28K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.3 93511 chr8 104897619 104897619 C T rs34681663 RIMS2 Synonymous SNV T72T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.83 93512 chr19 33467427 33467427 G A rs141801484 FAAP24 Nonsynonymous SNV V68M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 93513 chr8 106814741 106814741 G T ZFPM2 Nonsynonymous SNV V758F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 93514 chr8 73849768 73849768 A C rs142525254 KCNB2 Synonymous SNV A726A 0.035 0.018 0.02 14 41 7 0.036 6 2 0 0 0 0.009 93515 chr19 54848144 54848144 T A rs74869671 LILRA4 Nonsynonymous SNV H408L 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 4.071 93516 chr19 54848145 54848145 G A rs75547479 LILRA4 Nonsynonymous SNV H408Y 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 4.892 93517 chr18 10681659 10681659 G C rs781039883 PIEZO2 Nonsynonymous SNV T2480S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22 93518 chr19 54848157 54848157 A G rs76665615 LILRA4 Nonsynonymous SNV Y404H 0.013 0.016 0.02 4 15 6 0.01 6 0 0 0 0 5.502 93519 chr8 75928928 75928928 G T rs1945 CRISPLD1 Nonsynonymous SNV A100S 0.02 0.01 0.027 3 23 4 0.008 8 0 0 0 0 22.1 93520 chr19 54710154 54710154 G C rs112444181 RPS9 Synonymous SNV L36L 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 6.708 93521 chr18 10773600 10773600 C T rs372274945 PIEZO2 Synonymous SNV P840P 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 Benign 17.58 93522 chr8 77896324 77896324 G C rs149287302 PEX2 Nonsynonymous SNV Q31E 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 5.729 93523 chr8 80965596 80965596 G A rs146733856 TPD52 Nonsynonymous SNV R109W 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.6 93524 chr8 114111029 114111029 T C CSMD3 Synonymous SNV K291K 0.003 0 0 0 3 0 0 0 0 0 0 0 1.562 93525 chr19 54967827 54967827 G A rs377636837 LENG8 Synonymous SNV A486A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.733 93526 chr19 49473074 49473074 G A rs145789213 GYS1 Synonymous SNV A552A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.15 93527 chr19 10445232 10445232 C T rs116900565 ICAM3 Synonymous SNV R292R 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 12.36 93528 chr19 10472452 10472452 G A rs12720355 TYK2 Synonymous SNV I651I 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 9.812 93529 chr8 120801058 120801058 T A rs149772375 TAF2 Nonsynonymous SNV Y552F 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.74 93530 chr19 10610617 10610617 C T rs141924513 KEAP1 Synonymous SNV V31V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 8.677 93531 chr8 91637900 91637900 C T TMEM64 Synonymous SNV X329X 0 0 0 2 0 0 0.005 0 0 0 0 0 12.12 93532 chr18 13884710 13884710 C T rs769721256 MC2R Nonsynonymous SNV V270I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Uncertain significance 11.09 93533 chr19 1073254 1073254 G A rs776482717 ARHGAP45 Synonymous SNV T59T 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 13.74 93534 chr18 21492826 21492826 T C rs150804730 LAMA3 Nonsynonymous SNV M772T 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Likely benign 25.8 93535 chr18 22805073 22805073 G C rs114102095 ZNF521 Nonsynonymous SNV R717G 0.003 0 0 0 4 0 0 0 0 0 0 0 25.9 93536 chr18 22805887 22805887 G A rs200176716 ZNF521 Synonymous SNV T445T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.222 93537 chr19 55603678 55603678 C A rs201585471 PPP1R12C Nonsynonymous SNV R689L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 93538 chr19 55710273 55710273 G A rs200235263 PTPRH Synonymous SNV N298N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.649 93539 chr19 36912810 36912810 G T LOC644189 0 0 0.003 0 0 0 0 1 0 0 0 0 7.59 93540 chr18 658147 658147 C A rs182344736 TYMSOS Nonsynonymous SNV C34F 0.046 0.042 0.031 11 54 16 0.028 9 2 0 1 0 17.74 93541 chr8 133146616 133146616 G A rs74582884 KCNQ3 Nonsynonymous SNV P454S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 25.1 93542 chr19 49589785 49589785 T C rs761161455 SNRNP70 Synonymous SNV Y38Y 0.007 0.008 0 0 8 3 0 0 0 0 0 0 0.278 93543 chr19 3752601 3752601 G A rs147130540 APBA3 Nonsynonymous SNV R434C 0.032 0.034 0.027 13 37 13 0.033 8 3 2 0 0 29.1 93544 chr18 28934274 28934274 C T rs146192657 DSG1, DSG1-AS1 Synonymous SNV Y705Y 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 Benign 23.2 93545 chr18 29172865 29172865 G A rs1800458 TTR Nonsynonymous SNV G26S 0.035 0.034 0.027 10 41 13 0.026 8 0 1 0 0 Benign 1.822 93546 chr19 56297040 56297040 A G NLRP11 Nonsynonymous SNV M919T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 93547 chr19 56320813 56320813 T C rs111287552 NLRP11 Nonsynonymous SNV Q289R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 93548 chr18 31320088 31320088 A G rs774221607 ASXL3 Nonsynonymous SNV Y907C 0.003 0 0 0 3 0 0 0 0 0 0 0 12.98 93549 chr8 121295902 121295902 C T rs151222898 COL14A1 Synonymous SNV S1284S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.21 93550 chr19 504830 504830 C T rs7246543 MADCAM1 Synonymous SNV T251T 0.011 0.003 0.003 1 13 1 0.003 1 0 0 0 0 6.692 93551 chr19 50780082 50780082 C A rs11669191 MYH14 Nonsynonymous SNV A1209E 0.029 0.016 0.048 10 34 6 0.026 14 0 0 1 0 Benign/Likely benign 20.7 93552 chr19 56600349 56600349 G A ZNF787 Synonymous SNV A64A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.975 93553 chr19 3902526 3902526 C T rs549656846 ATCAY Nonsynonymous SNV P40L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 93554 chr19 51920852 51920852 C T rs117354113 LOC100129083 0.013 0.008 0 5 15 3 0.013 0 0 0 0 0 6.782 93555 chr18 44085826 44085826 C T rs201366522 LOXHD1 Synonymous SNV K190K 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.03 93556 chr19 40872541 40872541 G A rs757404195 PLD3 Nonsynonymous SNV A18T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.273 93557 chr19 15483942 15483942 C T rs61757556 AKAP8 Nonsynonymous SNV R194H 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 22.7 93558 chr19 15484133 15484133 C T rs374036020 AKAP8 Synonymous SNV P130P 0.002 0 0 4 2 0 0.01 0 0 0 0 0 16.36 93559 chr19 15563529 15563529 G C rs201042593 RASAL3 Nonsynonymous SNV T923R 0.009 0.003 0.003 7 11 1 0.018 1 0 0 0 0 3.673 93560 chr8 144671448 144671448 G A rs761839312 EEF1D Synonymous SNV A268A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.338 93561 chr19 15918500 15918500 G C rs148327766 OR10H1 Synonymous SNV T116T 0.006 0 0 5 7 0 0.013 0 0 0 0 0 Benign 0.666 93562 chr19 58058600 58058600 T C ZNF550 Nonsynonymous SNV T338A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 93563 chr19 57931682 57931682 T C rs112555181 ZNF17 Synonymous SNV Y274Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.837 93564 chr19 47422898 47422898 A G rs758993278 ARHGAP35 Synonymous SNV L322L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.113 93565 chr19 41932374 41932374 C T rs78273804 B3GNT8 Nonsynonymous SNV E104K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.2 93566 chr19 16192806 16192806 G A rs535782808 TPM4 Synonymous SNV T72T 0.002 0 0.003 6 2 0 0.015 1 0 0 0 0 17.63 93567 chr18 55309129 55309129 C T rs1013326129 LOC100505549 0.001 0 0 0 1 0 0 0 0 0 0 0 0.999 93568 chr19 47844495 47844495 C T rs149871591 C5AR2 Nonsynonymous SNV R147W 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23 93569 chr19 58131630 58131630 C T rs374612394 ZNF134 Nonsynonymous SNV T48M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.315 93570 chr19 16614115 16614115 T G rs143897261 C19orf44 Synonymous SNV L333L 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 0.128 93571 chr19 48257869 48257869 C T rs200463741 NOP53 Nonsynonymous SNV T284M 0.019 0.034 0.003 2 22 13 0.005 1 0 0 0 0 22.7 93572 chr19 42848895 42848895 G A rs779109120 MEGF8 Synonymous SNV T669T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 93573 chr8 144621242 144621242 G A rs778966440 ZC3H3 Nonsynonymous SNV R99W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 93574 chr19 1051006 1051006 G A rs143718918 ABCA7 Nonsynonymous SNV R880Q 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Uncertain significance 34 93575 chr19 6183158 6183158 G A rs142334228 ACSBG2 Synonymous SNV A399A 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 5.013 93576 chr19 49102514 49102514 G A SULT2B1 Nonsynonymous SNV G302S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.218 93577 chr19 54573405 54573405 C A TARM1 Nonsynonymous SNV G223V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.68 93578 chr19 651655 651655 C T rs540219467 RNF126 Synonymous SNV T133T 0.003 0 0 0 4 0 0 0 0 0 0 0 20.1 93579 chr19 10748382 10748382 G C rs142741358 SLC44A2 Nonsynonymous SNV E550Q 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 27.6 93580 chr19 6714035 6714035 G A rs11569571 C3 Synonymous SNV N247N 0.014 0.008 0.003 8 16 3 0.021 1 0 0 0 0 Benign 10.08 93581 chr18 6032256 6032256 A G rs111748585 L3MBTL4 Nonsynonymous SNV M488T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.67 93582 chr19 6714374 6714374 C T rs150007726 C3 Synonymous SNV P196P 0.012 0.005 0.024 6 14 2 0.015 7 0 0 1 0 Benign/Likely benign 5.236 93583 chr19 11032373 11032373 C T rs140457143 CARM1 Synonymous SNV P566P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 93584 chr19 44500603 44500603 C T rs62640890 ZNF155 Synonymous SNV H198H 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 10.81 93585 chr19 11322509 11322509 G A rs375331968 DOCK6 Nonsynonymous SNV T1565M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 93586 chr19 44503311 44503311 G T rs59647509 LOC101928063 0 0 0.003 0 0 0 0 1 0 0 0 0 0.459 93587 chr19 44570951 44570951 G A rs61729338 ZNF223 Nonsynonymous SNV G324S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 4.958 93588 chr19 7083754 7083754 G A rs186428378 ZNF557 Synonymous SNV X431X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.592 93589 chr19 54848732 54848732 G A rs117434371 LILRA4 Synonymous SNV G297G 0.026 0.021 0.017 10 30 8 0.026 5 0 0 0 0 7.276 93590 chr19 11660583 11660583 C T rs371738754 CNN1 Synonymous SNV H289H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.34 93591 chr19 7585109 7585109 C T rs754010867 ZNF358 Synonymous SNV A327A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.7 93592 chr19 44636802 44636802 A T rs16978738 ZNF225 Nonsynonymous SNV T679S 0.003 0 0.017 4 4 0 0.01 5 0 0 0 0 8.084 93593 chr19 11892409 11892409 G A rs372633691 ZNF441 Synonymous SNV K590K 0.003 0 0 0 3 0 0 0 0 0 0 0 15.15 93594 chr19 44771057 44771057 G A rs764720485 ZNF233 Nonsynonymous SNV G61R 0 0 0.003 3 0 0 0.008 1 0 0 0 0 12.77 93595 chr9 4286197 4286197 T A rs775442287 GLIS3 Nonsynonymous SNV S77C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 93596 chr19 8131073 8131073 G A rs138322146 FBN3 Synonymous SNV A2720A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 8.411 93597 chr19 8138038 8138038 C T rs142418616 FBN3 Nonsynonymous SNV G2616R 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 Benign 23.2 93598 chr19 50193437 50193437 C A rs45613034 ADM5 Nonsynonymous SNV A50E 0.011 0.003 0.003 0 13 1 0 1 0 0 0 0 9.052 93599 chr19 44981832 44981832 T C rs73036500 ZNF180 Nonsynonymous SNV H264R 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 0.01 93600 chr19 44981837 44981837 G A rs143627648 ZNF180 Synonymous SNV P262P 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 0.66 93601 chr19 50393730 50393730 T C IL4I1 Nonsynonymous SNV I301V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.527 93602 chr19 13427963 13427963 A G rs16009 CACNA1A Synonymous SNV V507V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 6.781 93603 chr19 19135984 19135984 A C rs367979287 SUGP2 Synonymous SNV S391S 0.003 0 0 4 4 0 0.01 0 0 0 0 0 0.177 93604 chr19 19375533 19375533 G A rs199962010 TM6SF2 Synonymous SNV P358P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.891 93605 chr19 19648234 19648234 C G rs201051947 YJEFN3 Nonsynonymous SNV H217Q 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 18.82 93606 chr19 14001206 14001206 G A rs144502446 C19orf57 Nonsynonymous SNV L37F 0.008 0.018 0.01 1 9 7 0.003 3 0 0 0 0 0.001 93607 chr19 19756787 19756787 G C rs144612212 ATP13A1 Nonsynonymous SNV Q1086E 0.014 0.008 0.007 5 16 3 0.013 2 0 0 0 0 Likely benign 0.405 93608 chr19 1401417 1401417 - A GAMT Frameshift insertion W20Lfs*65 0.001 0 0 2 1 0 0.005 0 0 0 0 0 93609 chr19 51169797 51169797 G A rs184259943 SHANK1 Nonsynonymous SNV P1807L 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 Likely benign 11.51 93610 chr19 14042657 14042657 G - rs905389921 PODNL1 L547Wfs*19 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 93611 chr18 74091242 74091242 G A rs61733593 ZNF516 Nonsynonymous SNV P943L 0.005 0.016 0.01 0 6 6 0 3 0 0 0 0 7.972 93612 chr19 45303649 45303649 G A rs200015142 CBLC Synonymous SNV K412K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.587 93613 chr8 145584287 145584287 G A rs145502954 SLC52A2 Nonsynonymous SNV V347M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.005 93614 chr19 56125116 56125116 C T rs751309317 ZNF865 Synonymous SNV P44P 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 13.1 93615 chr19 56133551 56133551 C T rs200843026 ZNF784 Nonsynonymous SNV E180K 0.013 0.01 0.007 2 15 4 0.005 2 0 1 0 0 23.8 93616 chr19 51363277 51363277 C T rs138882542 KLK3 Nonsynonymous SNV T184M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 93617 chr19 22155165 22155165 A C ZNF208 Nonsynonymous SNV C891G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.505 93618 chr9 18777601 18777601 G A rs138492683 ADAMTSL1 Nonsynonymous SNV R1125H 0.005 0.01 0.01 3 6 4 0.008 3 0 0 0 0 Likely benign 11.47 93619 chr19 45561032 45561032 C A rs7259931 CLASRP Synonymous SNV I101I 0.003 0 0.007 0 3 0 0 2 0 0 0 0 21.9 93620 chr19 460668 460668 C G rs189741717 SHC2 Nonsynonymous SNV G110A 0.018 0.005 0.034 4 21 2 0.01 10 10 1 5 2 0.008 93621 chr19 23926428 23926428 C T rs201670073 ZNF681 Nonsynonymous SNV G642S 0 0 0 4 0 0 0.01 0 0 0 0 0 22.8 93622 chr18 9570161 9570161 C T rs199807748 PPP4R1 Nonsynonymous SNV V523I 0.003 0 0 0 4 0 0 0 0 0 0 0 26.5 93623 chr8 145748484 145748484 G C rs779872172 LRRC24 Nonsynonymous SNV A306G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.094 93624 chr19 15350625 15350625 C T rs35676845 BRD4 Nonsynonymous SNV R1097H 0.011 0.008 0.017 9 13 3 0.023 5 0 0 1 0 25.3 93625 chr19 4714280 4714280 G A rs374343835 DPP9 Synonymous SNV D42D 0.005 0.008 0.003 1 6 3 0.003 1 0 1 0 0 8.045 93626 chr19 48058953 48058953 G A rs144244907 ZNF541 Nonsynonymous SNV P54L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 10.33 93627 chr9 2039777 2039791 CAGCAGCAGCAGCAG - rs797045977 SMARCA2 Q234_Q238del 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 93628 chr9 2729516 2729516 T G rs796658305 KCNV2 Nonsynonymous SNV L476R 0.003 0 0 5 4 0 0.013 0 0 0 0 0 28.2 93629 chr19 10207083 10207083 T C rs746538090 ANGPTL6 Nonsynonymous SNV T53A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.001 93630 chr19 48523036 48523036 T C rs201836907 ELSPBP1 Nonsynonymous SNV V139A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 93631 chr19 10224436 10224436 C T rs766744544 P2RY11, PPAN-P2RY11 Nonsynonymous SNV P490L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 13.78 93632 chr19 57175811 57175811 G A rs145979536 ZNF835 Synonymous SNV C252C 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 4.205 93633 chr9 5805741 5805741 C T rs35643913 ERMP1 Synonymous SNV S531S 0.009 0.003 0.017 7 10 1 0.018 5 0 0 0 0 Benign 12.98 93634 chr9 5832928 5832928 G C rs13283149 ERMP1 Nonsynonymous SNV R34G 0.016 0.003 0.017 12 19 1 0.031 5 0 0 0 0 5.603 93635 chr19 10385540 10385540 A T rs5491 ICAM1 Nonsynonymous SNV K56M 0.012 0.016 0.01 2 14 6 0.005 3 1 0 0 0 risk factor 0.03 93636 chr9 71864348 71864348 G A rs775659201 TJP2 Nonsynonymous SNV D1011N 0.001 0 0 0 1 0 0 0 0 0 0 0 29 93637 chr19 49238772 49238772 C T rs774182562 RASIP1 Nonsynonymous SNV R287H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 93638 chr19 34957830 34957830 C T rs45482396 UBA2 Nonsynonymous SNV P551L 0.02 0.018 0.007 8 23 7 0.021 2 0 0 0 1 25.3 93639 chr19 58189707 58189707 G C rs146611683 ZSCAN4 Nonsynonymous SNV A246P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.011 93640 chr19 3548221 3548221 G T MFSD12 Nonsynonymous SNV A176D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29 93641 chr19 58573032 58573032 C T rs201605477 ZNF135 Nonsynonymous SNV R52C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.2 93642 chr9 20933030 20933030 A C rs147046649 FOCAD Nonsynonymous SNV E1112A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 22.6 93643 chr19 57865099 57865099 G A rs758188042 ZNF304 Nonsynonymous SNV V14M 0.005 0 0 1 6 0 0.003 0 0 0 0 0 24.1 93644 chr19 57865101 57865101 G T rs777622415 ZNF304 Synonymous SNV V14V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11.79 93645 chr19 579630 579630 G A rs61729580 BSG Synonymous SNV A66A 0.019 0.018 0.02 6 22 7 0.015 6 1 0 0 0 9.771 93646 chr19 50357917 50357917 A G rs147535884 PTOV1 Synonymous SNV R106R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.707 93647 chr19 35832795 35832795 G T CD22 Synonymous SNV S477S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 1.321 93648 chr19 50386305 50386305 G A rs752017150 TBC1D17 Nonsynonymous SNV E302K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 93649 chr19 59074133 59074133 T A rs201388932 MZF1 Nonsynonymous SNV Q504L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.1 93650 chr19 11492395 11492395 G A rs377322757 EPOR Synonymous SNV A186A 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 Benign 12.21 93651 chr19 53793089 53793089 - GCG BIRC8 0.001 0 0 0 1 0 0 0 0 0 0 0 93652 chr19 3612302 3612302 G A CACTIN, CACTIN-AS1 Synonymous SNV Y632Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.7 93653 chr19 9088249 9088249 C T rs370920501 MUC16 Nonsynonymous SNV R1189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 93654 chr9 80020818 80020818 T A rs141321409 VPS13A Nonsynonymous SNV L3066H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 31 93655 chr19 58379836 58379836 C T rs549275266 UBE2CP5 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.925 93656 chr19 1818839 1818839 G A rs74401133 REXO1 Nonsynonymous SNV A923V 0.012 0.013 0.007 7 14 5 0.018 2 0 0 0 0 23.2 93657 chr19 36279184 36279184 G A rs552398326 ARHGAP33 Synonymous SNV P1075P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 6.832 93658 chr9 86399634 86399634 C T rs368678742 GKAP1 Synonymous SNV S186S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 93659 chr19 9361909 9361909 A G rs75749687 OR7E24 Nonsynonymous SNV I64V 0.02 0.021 0.017 5 24 8 0.013 5 0 0 0 0 1.47 93660 chr9 35808514 35808514 G A rs758549770 NPR2 Synonymous SNV T907T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 11.76 93661 chr19 36398458 36398458 G A rs201680032 TYROBP Nonsynonymous SNV P29L 0 0 0.003 5 0 0 0.013 1 0 0 0 1 Uncertain significance 23.9 93662 chr19 58806921 58806921 G A rs188839301 ZNF8-ERVK3-1 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 13.19 93663 chr9 35906599 35906601 CCC - rs565823201 HRCT1 P106del 0.01 0.005 0 3 12 2 0.008 0 2 0 0 0 93664 chr9 35906607 35906607 G A rs201684694 HRCT1 Nonsynonymous SNV R108H 0.011 0.013 0 3 13 5 0.008 0 2 1 0 0 10.3 93665 chr19 18285896 18285896 C T rs140704918 IFI30 Nonsynonymous SNV P60L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.41 93666 chr9 92006275 92006275 G A rs28377168 SEMA4D Synonymous SNV G226G 0.009 0.01 0.007 1 11 4 0.003 2 0 0 0 0 10.4 93667 chr19 6183233 6183233 G A rs17851957 ACSBG2 Synonymous SNV E424E 0.027 0.031 0.02 14 32 12 0.036 6 0 0 0 1 2.304 93668 chr19 6187657 6187657 C T rs16993453 ACSBG2 Synonymous SNV F576F 0.027 0.031 0.02 15 32 12 0.038 6 0 0 0 1 11.26 93669 chr19 6187800 6187800 G A rs17856650 ACSBG2 Nonsynonymous SNV R624K 0.028 0.031 0.02 15 33 12 0.038 6 0 0 0 1 0.004 93670 chr19 6187805 6187805 G C rs17856651 ACSBG2 Nonsynonymous SNV E626Q 0.028 0.031 0.02 15 33 12 0.038 6 0 0 0 1 1.739 93671 chr1 1007306 1007306 G A rs148410684 RNF223 Nonsynonymous SNV P214L 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 26.8 93672 chr19 13215766 13215766 C A rs376828486 TRMT1 Nonsynonymous SNV G626W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.17 93673 chr19 13216142 13216142 G A rs370007011 TRMT1 Nonsynonymous SNV P562L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.18 93674 chr9 97367746 97367746 T C rs143965326 FBP1 Nonsynonymous SNV N273S 0.006 0 0 3 7 0 0.008 0 0 0 0 0 0.002 93675 chr9 72833458 72833458 G A rs199524577 MAMDC2 Synonymous SNV Q619Q 0.004 0 0 5 5 0 0.013 0 0 0 0 0 10.62 93676 chr19 18989843 18989843 G A rs377364343 CERS1 Synonymous SNV I204I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.45 93677 chr9 100365004 100365004 G C rs150422288 TSTD2 Nonsynonymous SNV S433C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 93678 chr19 7531821 7531821 G A rs79986215 ARHGEF18 Synonymous SNV T732T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 10.59 93679 chr1 109823458 109823458 C T rs34863121 PSRC1 Nonsynonymous SNV R266Q 0.014 0.008 0.01 2 16 3 0.005 3 0 0 0 0 23.3 93680 chr19 52537202 52537202 C T rs73053910 ZNF432 Nonsynonymous SNV G577D 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 22 93681 chr9 106888978 106888978 C T rs6479217 SMC2 Synonymous SNV Y836Y 0.009 0 0.007 1 11 0 0.003 2 0 0 0 0 5.636 93682 chr9 106901506 106901506 A G rs16923746 SMC2 Synonymous SNV V1168V 0.009 0 0.007 1 11 0 0.003 2 0 0 0 0 7.801 93683 chr19 22272234 22272235 AT - rs767645310 ZNF257 H485Qfs*89 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 93684 chr1 110466528 110466528 C T CSF1 Nonsynonymous SNV H429Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.59 93685 chr9 107533232 107533232 C A rs41277761 NIPSNAP3B Nonsynonymous SNV T178K 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 1 21.5 93686 chr19 8321590 8321590 G A rs146800413 CERS4 Nonsynonymous SNV R203H 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 34 93687 chr9 79985181 79985181 C T rs117485827 VPS13A Synonymous SNV I2853I 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Benign/Likely benign 14.44 93688 chr19 38895593 38895593 G A rs200101425 FAM98C Nonsynonymous SNV R132H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.412 93689 chr9 88248205 88248205 C T AGTPBP1 Nonsynonymous SNV E515K 0 0 0 2 0 0 0.005 0 0 0 0 0 18.5 93690 chr19 831811 831811 C T rs588442 AZU1 Synonymous SNV T230T 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 10.21 93691 chr19 853009 853009 G T rs200254961 ELANE Synonymous SNV S67S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.125 93692 chr1 111857976 111857976 C T rs140252614 CHIA Synonymous SNV D25D 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 11.52 93693 chr19 16059846 16059846 C G rs117192411 OR10H4 Nonsynonymous SNV S10C 0.011 0.01 0.01 4 13 4 0.01 3 0 0 0 0 20.3 93694 chr19 2852464 2852464 A G ZNF555 Nonsynonymous SNV K133R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 93695 chr9 112900754 112900754 C T rs373087862 PALM2AKAP2 Nonsynonymous SNV T835M 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 18.77 93696 chr19 56459302 56459302 A C rs77942970 NLRP8 Nonsynonymous SNV I12L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 93697 chr19 56467135 56467135 G A rs147105419 NLRP8 Nonsynonymous SNV V571M 0.003 0 0 0 4 0 0 0 0 0 0 0 12.44 93698 chr1 113638511 113638511 C A rs146505320 LRIG2 Nonsynonymous SNV N273K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 93699 chr19 39991293 39991293 G A rs113780398 DLL3 Synonymous SNV E130E 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign/Likely benign 9.88 93700 chr9 116094189 116094189 G A rs143557912 WDR31 Synonymous SNV Y38Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.2 93701 chr9 100756975 100756975 T A rs188640709 ANP32B Synonymous SNV A39A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.64 93702 chr1 116206362 116206362 C T rs140451005 VANGL1 Synonymous SNV I93I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.16 93703 chr9 116811385 116811385 C T rs62640056 ZNF618 Synonymous SNV N568N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.402 93704 chr9 116811454 116811454 C T rs375985037 ZNF618 Synonymous SNV S591S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.57 93705 chr19 54947321 54947321 C T rs111340729 TTYH1 Nonsynonymous SNV P440L 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 8.301 93706 chr1 117559884 117559884 C T rs145887018 CD101 Synonymous SNV G467G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.51 93707 chr19 33700365 33700365 G A SLC7A10 Synonymous SNV Y430Y 0.003 0 0 3 3 0 0.008 0 0 0 0 0 2.673 93708 chr19 54966557 54966557 G C rs35061854 LENG8 Nonsynonymous SNV R279P 0.013 0.008 0.014 9 15 3 0.023 4 0 0 0 0 27.2 93709 chr9 101984160 101984160 C G rs180849348 ALG2 Nonsynonymous SNV G6A 0.009 0.013 0 7 10 5 0.018 0 0 0 0 0 Benign/Likely benign 0.001 93710 chr19 54976403 54976403 G A rs78611575 CDC42EP5 Nonsynonymous SNV A110V 0.012 0.008 0.01 6 14 3 0.015 3 0 0 0 0 1.4 93711 chr19 17671248 17671248 C G rs142311552 COLGALT1 Nonsynonymous SNV R155G 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 33 93712 chr1 118501599 118501599 A C rs370867106 WDR3 Synonymous SNV T883T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.738 93713 chr19 17834999 17834999 C T rs199663633 MAP1S Synonymous SNV D69D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.54 93714 chr9 123222939 123222939 C A rs772006427 CDK5RAP2 Nonsynonymous SNV A705S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 93715 chr1 120277976 120277976 T G PHGDH Nonsynonymous SNV C234W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 93716 chr19 36002393 36002393 - GCCACTGCTGCT rs770768487 DMKN G279_G280insSSSG 0.04 0.023 0.024 15 47 9 0.038 7 0 0 0 0 93717 chr1 120478221 120478221 G A NOTCH2 Nonsynonymous SNV P1177S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 93718 chr19 36017598 36017598 T C rs75962883 SBSN Nonsynonymous SNV N529S 0.017 0.01 0.014 5 20 4 0.013 4 0 0 0 0 15.32 93719 chr9 111618142 111618142 C A rs143799574 ACTL7B Synonymous SNV R23R 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 0.144 93720 chr19 55742803 55742803 G A rs200736594 PPP6R1 Nonsynonymous SNV R812C 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 12.56 93721 chr1 12364667 12364667 G A rs753789483 VPS13D Synonymous SNV T2107T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.87 93722 chr1 12835157 12835157 C T rs75099356 PRAMEF12 Synonymous SNV C49C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 93723 chr1 12836250 12836250 C T rs140879180 PRAMEF12 Synonymous SNV D284D 0.009 0.013 0.01 6 11 5 0.015 3 2 1 0 0 12.35 93724 chr1 1289446 1289446 C T rs150058708 MXRA8 Nonsynonymous SNV D295N 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 25.2 93725 chr9 113212404 113212404 G A rs775155745 SVEP1 Synonymous SNV V1346V 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 7.088 93726 chr19 19381885 19381885 C A rs200492531 TM6SF2 Nonsynonymous SNV V49L 0.012 0.013 0.003 3 14 5 0.008 1 0 0 0 0 7.815 93727 chr19 919983 919983 A C rs8111938 KISS1R Synonymous SNV A205A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.032 93728 chr19 19455706 19455706 A C rs776644565 MAU2 Nonsynonymous SNV N376H 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 23.6 93729 chr19 1979579 1979579 C T rs149326311 CSNK1G2 Synonymous SNV T313T 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 19.07 93730 chr19 59073595 59073595 G A rs778327899 MZF1 Synonymous SNV C683C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.442 93731 chr19 3750669 3750669 C T rs756728347 TJP3 Nonsynonymous SNV A916V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 93732 chr19 3751097 3751097 - G APBA3 0.001 0 0 0 1 0 0 0 0 0 0 0 93733 chr9 116856174 116856174 T C rs34105930 KIF12 Synonymous SNV A326A 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 Benign 0.161 93734 chr19 2248152 2248152 - GGAGTCCACCCTCCAGCCCCC rs766036482 SF3A2 P367_P368insAPGVHPP 0.014 0.013 0.003 12 17 5 0.031 1 6 2 0 4 93735 chr1 150527109 150527109 T C rs12095798 ADAMTSL4 Synonymous SNV G434G 0.004 0.005 0.014 0 5 2 0 4 0 0 1 0 1.754 93736 chr9 128099323 128099323 T C rs767471758 GAPVD1 Nonsynonymous SNV S798P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 93737 chr1 149902342 149902342 C T rs145659444 MTMR11 Nonsynonymous SNV R449H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.8 93738 chr1 150784532 150784532 G C rs200078254 ARNT Nonsynonymous SNV P763A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 93739 chr1 150974861 150974861 G A rs148438333 MINDY1 Nonsynonymous SNV P126L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 93740 chr19 7448058 7448058 C T rs72992636 ARHGEF18 Synonymous SNV C312C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.47 93741 chr9 123737203 123737203 T C rs200674959 C5 Nonsynonymous SNV I1297V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.7 93742 chr1 151340756 151340756 C G rs763454190 SELENBP1 Nonsynonymous SNV A72P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 93743 chr1 107600119 107600119 C A rs564614238 PRMT6 Nonsynonymous SNV A261D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.72 93744 chr9 131029541 131029541 G C rs201878233 GOLGA2 Nonsynonymous SNV Q153E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.703 93745 chr9 123787743 123787743 A G rs147430470 C5 Nonsynonymous SNV I336T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.009 93746 chr19 57334122 57334122 G T rs754877008 PEG3, ZIM2 Nonsynonymous SNV S188R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 93747 chr1 151789159 151789159 C T rs201334909 RORC Synonymous SNV A72A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.44 93748 chr19 57334123 57334123 C T rs886949360 PEG3, ZIM2 Nonsynonymous SNV S188N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 93749 chr1 109385781 109385781 T C rs376688014 AKNAD1 Nonsynonymous SNV I452V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 93750 chr1 151811376 151811376 G A C2CD4D Synonymous SNV R30R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 93751 chr19 7565932 7565932 G C rs187442624 TEX45 Nonsynonymous SNV R75P 0.011 0.01 0.01 2 13 4 0.005 3 0 0 0 1 0.19 93752 chr1 109260607 109260607 C A rs201720195 FNDC7 Nonsynonymous SNV S97R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 26.2 93753 chr19 3936654 3936656 CTT - rs763776885 NMRK2 F38del 0.001 0 0 0 1 0 0 0 0 0 0 0 93754 chr1 151881934 151881934 T C THEM4 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 93755 chr19 39521857 39521857 A T rs34657331 FBXO27 Synonymous SNV T156T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.999 93756 chr19 30021157 30021157 A G rs1045366866 VSTM2B Synonymous SNV P243P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.341 93757 chr1 152080157 152080157 G A rs772096098 TCHH Nonsynonymous SNV R1846W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 93758 chr19 39664295 39664295 G A rs199929260 PAK4 Nonsynonymous SNV R95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 93759 chr9 125289272 125289272 A C rs570432792 OR1N1 Nonsynonymous SNV F101V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.2 93760 chr19 7709520 7709520 C T rs201407516 STXBP2 Synonymous SNV D373D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.55 93761 chr19 39899171 39899171 C A rs747038570 ZFP36 Synonymous SNV T271T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.352 93762 chr19 7755083 7755083 C T rs1042429 FCER2 Synonymous SNV G229G 0.006 0.005 0.01 1 7 2 0.003 3 0 1 0 0 10.32 93763 chr19 33321532 33321533 AG - SLC7A9 P486Rfs*13 0.003 0.003 0 0 3 1 0 0 0 0 0 0 93764 chr19 39962340 39962340 C T rs370183625 SUPT5H Synonymous SNV T636T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 93765 chr1 110022074 110022074 - CAGGGC rs201507882 SYPL2 Q246_D247insGQ 0.01 0.018 0.007 5 12 7 0.013 2 0 0 0 0 93766 chr19 34890207 34890207 T G GPI Nonsynonymous SNV S427R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 93767 chr19 58049243 58049243 G A rs61735033 ZNF549 Nonsynonymous SNV V278I 0.008 0.016 0.014 8 9 6 0.021 4 0 0 0 0 0.001 93768 chr1 110882441 110882441 C T RBM15 Synonymous SNV G138G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16 93769 chr19 58058879 58058879 T C ZNF550 Nonsynonymous SNV T245A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 93770 chr1 111060649 111060649 T C rs11806812 KCNA10 Nonsynonymous SNV N254S 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 Benign 0.001 93771 chr9 125637584 125637584 A C rs56340543 RC3H2 Synonymous SNV T463T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.448 93772 chr19 35450392 35450392 C T rs554641420 ZNF792 Nonsynonymous SNV E123K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.005 93773 chr19 58153420 58153420 T C rs150396049 ZNF211 Synonymous SNV S461S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.61 93774 chr19 58198215 58198215 C T rs148833732 ZNF551 Nonsynonymous SNV T163M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.176 93775 chr19 58453167 58453167 T C rs140799051 ZNF256 Nonsynonymous SNV S337G 0 0 0.007 3 0 0 0.008 2 0 0 0 0 0.187 93776 chr9 134020129 134020129 A C rs140139321 NUP214 Nonsynonymous SNV N586T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 25.8 93777 chr1 155744910 155744910 G T rs145830965 GON4L Nonsynonymous SNV P745T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 22.5 93778 chr1 1558793 1558793 G A rs866809129 MIB2 Nonsynonymous SNV M45I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.593 93779 chr9 128112578 128112578 G T rs141367248 GAPVD1 Nonsynonymous SNV A1075S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 24.4 93780 chr1 154544532 154544532 G A rs55857552 CHRNB2 Synonymous SNV A411A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 11.3 93781 chr1 112999000 112999000 G A rs1175640 CTTNBP2NL Nonsynonymous SNV V296M 0.009 0.013 0.01 2 10 5 0.005 3 0 0 1 0 1.702 93782 chr1 112305406 112305406 - A DDX20 0.009 0.013 0.01 2 11 5 0.005 3 0 0 0 0 93783 chr1 114280781 114280781 A G rs2273757 PHTF1 Synonymous SNV V94V 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 10.17 93784 chr19 652273 652273 G A rs774727819 RNF126 Nonsynonymous SNV P53L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 93785 chr1 112323360 112323360 G A rs17215458 KCND3 Synonymous SNV Y441Y 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 Benign 8.111 93786 chr19 3613256 3613261 CCGTCG - rs752506521 CACTIN D530_G531del 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 93787 chr19 4199678 4199678 A C ANKRD24 0.001 0 0 0 1 0 0 0 0 0 0 0 17.69 93788 chr9 130494937 130494937 T A rs371706865 TOR2A Synonymous SNV A47A 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 14.68 93789 chr1 156510632 156510632 C T rs142760472 IQGAP3 Synonymous SNV L869L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 15.16 93790 chr19 6921879 6921879 G A rs148040255 ADGRE1 Synonymous SNV A451A 0.003 0 0.014 0 3 0 0 4 0 0 0 0 7.119 93791 chr19 36334485 36334485 G A rs2073901 NPHS1 Synonymous SNV T741T 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 Benign 11.95 93792 chr19 36348078 36348078 A C rs446014 KIRREL2 Nonsynonymous SNV R19S 0.011 0.013 0.003 1 13 5 0.003 1 0 0 0 0 0.004 93793 chr19 36486193 36486193 G C SDHAF1 Nonsynonymous SNV R6P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 93794 chr9 131267089 131267089 C G rs150246404 GLE1 Nonsynonymous SNV P2R 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Uncertain significance 27.9 93795 chr19 48949646 48949646 C T rs774207834 GRWD1 Synonymous SNV A64A 0 0 0 5 0 0 0.013 0 0 0 0 1 17.02 93796 chr9 131287520 131287520 G A rs147943229 GLE1 Nonsynonymous SNV R316Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 21.5 93797 chr19 36530421 36530421 C T rs191321109 THAP8 Nonsynonymous SNV R159Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 93798 chr19 9005672 9005672 G A MUC16 Nonsynonymous SNV P13245L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.2 93799 chr1 116228092 116228092 A G rs189584852 VANGL1 Nonsynonymous SNV M418V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 15.26 93800 chr19 42753020 42753020 G A rs139842507 ERF Nonsynonymous SNV A340V 0.015 0.013 0.01 3 18 5 0.008 3 0 0 0 0 Benign 10.39 93801 chr1 156879666 156879666 C A rs772603841 PEAR1 Nonsynonymous SNV T512N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 93802 chr1 156897002 156897002 C T rs753966646 LRRC71 Nonsynonymous SNV S201F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 93803 chr19 4324162 4324162 T G STAP2 Nonsynonymous SNV K394Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 93804 chr1 11779737 11779737 C T rs147056259 DRAXIN Nonsynonymous SNV S345F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 93805 chr1 117311294 117311294 G A rs35591188 CD2 Synonymous SNV P341P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Benign 12.48 93806 chr1 117487344 117487344 G A rs80123219 PTGFRN Synonymous SNV P154P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Benign 8.479 93807 chr1 158059357 158059357 C T rs772707999 KIRREL1 Synonymous SNV T270T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.6 93808 chr19 49339590 49339590 G A rs141119542 HSD17B14 Nonsynonymous SNV R27C 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 24.8 93809 chr19 436637 436637 C T rs773508199 SHC2 Nonsynonymous SNV G256E 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 24.7 93810 chr19 37368146 37368146 A G rs141127636 ZNF345 Synonymous SNV R138R 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 0.379 93811 chr19 3743948 3743948 C T rs150181963 TJP3 Nonsynonymous SNV R619C 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 33 93812 chr19 38027811 38027811 G A rs751578996 ZNF793 Nonsynonymous SNV R84Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.4 93813 chr19 8200876 8200876 G A rs75321439 FBN3 Synonymous SNV F520F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 6.207 93814 chr1 119925543 119925543 G A rs763195884 HAO2 Nonsynonymous SNV R46H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 93815 chr19 44423023 44423023 T G ZNF45 Synonymous SNV S78S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.738 93816 chr19 9074922 9074922 A - rs764224016 MUC16 L4175Cfs*2 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 93817 chr19 49700017 49700017 G A rs200038418 TRPM4 Nonsynonymous SNV G490D 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 93818 chr1 120466300 120466300 G A NOTCH2 Nonsynonymous SNV R1607C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 93819 chr1 160607144 160607144 G A rs202083103 SLAMF1 Synonymous SNV S84S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.25 93820 chr1 120458270 120458270 G C rs75831573 NOTCH2 Nonsynonymous SNV P2359A 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 Benign 4.156 93821 chr19 49961804 49961804 C G ALDH16A1 Nonsynonymous SNV P51R 0 0 0 5 0 0 0.013 0 0 0 0 1 24.7 93822 chr9 139745254 139745254 C G rs745638914 PHPT1 Synonymous SNV A113A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 93823 chr19 49979435 49979435 G A rs367551792 FLT3LG Nonsynonymous SNV V60M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.7 93824 chr1 1278132 1278132 C T rs371315460 DVL1 Synonymous SNV V59V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.723 93825 chr19 50143262 50143262 G A rs764926027 RRAS Synonymous SNV L32L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 11.06 93826 chr1 12726036 12726036 C G rs142659885 AADACL4 Nonsynonymous SNV H172D 0.008 0.008 0.014 1 9 3 0.003 4 0 0 0 0 21 93827 chr1 158811972 158811972 T C rs200492348 MNDA Nonsynonymous SNV L10S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 93828 chr19 40762915 40762915 G A rs35588791 AKT2 Synonymous SNV S31S 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 13.34 93829 chr1 159021727 159021727 C T rs3737523 IFI16 Synonymous SNV L586L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.94 93830 chr1 159166613 159166613 T - rs533935187 CADM3-AS1 0.002 0 0 2 2 0 0.005 0 0 0 0 0 93831 chr9 140006342 140006342 G T rs775562596 DPP7 Nonsynonymous SNV T397N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 93832 chr9 137591755 137591755 C T rs41306397 COL5A1 Nonsynonymous SNV A93V 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 Benign/Likely benign 23.6 93833 chr19 50951555 50951555 C T rs373913738 MYBPC2 Synonymous SNV C460C 0 0 0 5 0 0 0.013 0 0 0 0 1 13.24 93834 chr19 9066783 9066783 G A rs186224604 MUC16 Nonsynonymous SNV A6888V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 93835 chr9 138905076 138905076 C T rs7025705 NACC2 Synonymous SNV P408P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 15.12 93836 chr1 151214997 151214997 A G rs145126650 PIP5K1A Nonsynonymous SNV S492G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.1 93837 chr1 161070525 161070525 T C rs149807446 PFDN2 Nonsynonymous SNV N138S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.739 93838 chr1 147095708 147095708 C G BCL9 Nonsynonymous SNV L1077V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.68 93839 chr19 45667499 45667499 A T rs142501705 TRAPPC6A Nonsynonymous SNV L84Q 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Uncertain significance 26.3 93840 chr9 139407553 139407553 G A rs753036935 NOTCH1 Nonsynonymous SNV A796V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.6 93841 chr1 151773851 151773851 T A rs61746299 LINGO4 Nonsynonymous SNV T444S 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 10.66 93842 chr9 139837046 139837046 C T rs377379004 FBXW5 Nonsynonymous SNV G210R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 32 93843 chr1 109461341 109461341 C T rs35089879 GPSM2 Nonsynonymous SNV T457M 0.02 0.01 0.014 6 23 4 0.015 4 1 0 0 0 Benign/Likely benign 18.94 93844 chr9 139911975 139911975 G T ABCA2 Nonsynonymous SNV A794E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.7 93845 chr10 5995112 5995112 A G rs41290325 IL15RA Synonymous SNV T181T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.048 93846 chr9 139925983 139925983 G A rs117125309 FUT7 Nonsynonymous SNV R70C 0.01 0.013 0.007 3 12 5 0.008 2 0 0 0 0 17.93 93847 chr10 6520963 6520963 G A rs35751269 PRKCQ Synonymous SNV F323F 0.013 0.013 0.007 3 15 5 0.008 2 1 0 0 0 6.38 93848 chr19 9650359 9650359 G C rs12982396 ZNF426-DT 0 0 0.007 0 0 0 0 2 0 0 1 0 0.357 93849 chr9 139975203 139975203 C T UAP1L1 Nonsynonymous SNV P414L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.393 93850 chr1 16531855 16531855 C T rs150897805 ARHGEF19 Synonymous SNV A549A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.25 93851 chr1 151377605 151377605 A G rs778476240 POGZ Synonymous SNV L1207L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.018 93852 chr1 165532948 165532948 C T rs115506989 LRRC52 Nonsynonymous SNV R277C 0.013 0.003 0 7 15 1 0.018 0 0 0 0 0 Benign 19.33 93853 chr1 109940503 109940503 G C rs72646553 SORT1 Synonymous SNV P4P 0.006 0 0 5 7 0 0.013 0 1 0 0 2 8.272 93854 chr19 47571041 47571041 C T rs746387202 ZC3H4 Synonymous SNV T828T 0.005 0 0 0 6 0 0 0 0 0 0 0 9.031 93855 chr1 16641708 16641708 T G FBXO42 Nonsynonymous SNV K69T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 93856 chr1 151867528 151867528 C T rs114800758 THEM4 Nonsynonymous SNV R81H 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 Benign 1.11 93857 chr10 11504504 11504504 G A rs375255729 USP6NL Nonsynonymous SNV P825L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 14.06 93858 chr1 152080890 152080890 T C rs12729461 TCHH Synonymous SNV E1601E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 3.516 93859 chr1 152128364 152128364 C T rs567965937 RPTN Nonsynonymous SNV G404D 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 93860 chr1 167815423 167815423 G T rs753461391 ADCY10 Nonsynonymous SNV T686N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 93861 chr1 11036309 11036309 C T rs753672659 C1orf127 Nonsynonymous SNV V11I 0.002 0.01 0 0 2 4 0 0 0 0 0 0 6.663 93862 chr1 175113616 175113616 G A rs752282631 TNN Nonsynonymous SNV G1230D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 31 93863 chr9 140438222 140438222 G A PNPLA7 Nonsynonymous SNV R82W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 93864 chr1 154960711 154960711 A T rs150372864 FLAD1 Nonsynonymous SNV N168I 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 19.36 93865 chr19 48378039 48378039 T G rs753252958 SULT2A1 Nonsynonymous SNV E207A 0.005 0 0 0 6 0 0 0 0 0 0 0 2.165 93866 chr10 696309 696309 A G rs760979008 PRR26 Nonsynonymous SNV N87D 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 0.005 93867 chr10 875362 875362 G A rs765381459 LARP4B Nonsynonymous SNV T363M 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 25.6 93868 chr19 44537182 44537182 A C ZNF222 X492S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 93869 chr1 155178891 155178891 C T rs372914521 MTX1 Nonsynonymous SNV A99V 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 17.17 93870 chr10 16942657 16942657 C T rs771478110 CUBN Nonsynonymous SNV G2793R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 93871 chr10 3143643 3143643 A T rs4881080 PFKP Synonymous SNV R90R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.007 93872 chr1 155220499 155220499 - CACGGAGCG rs747750307 FAM189B V263_D264insRSV 0.002 0.003 0 0 2 1 0 0 0 0 0 0 93873 chr10 16975119 16975119 T C rs150392211 CUBN Nonsynonymous SNV T2031A 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 0.016 93874 chr1 155258142 155258142 G A rs751908954 HCN3 Nonsynonymous SNV R738Q 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 21 93875 chr1 155707955 155707957 AGA - rs3841631 DAP3 E341del 0.009 0.01 0.014 6 11 4 0.015 4 0 0 0 0 93876 chr19 48699166 48699166 C T rs750718332 ZSWIM9 Synonymous SNV D615D 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 4.854 93877 chr19 53117563 53117563 T A rs753602150 ZNF83 Nonsynonymous SNV K85N 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 23.2 93878 chr19 48845862 48845862 C T TMEM143 Synonymous SNV V200V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 93879 chr19 49100153 49100153 G A rs146884008 SULT2B1 Nonsynonymous SNV R253H 0.013 0.003 0 4 15 1 0.01 0 0 0 0 0 Likely benign 25.1 93880 chr1 113253379 113253379 G A rs142920638 PPM1J Nonsynonymous SNV S402F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 93881 chr1 179883190 179883190 G A rs2274955 TOR1AIP1 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.8 93882 chr1 111717583 111717583 A G rs147309153 CEPT1 Nonsynonymous SNV M238V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 93883 chr1 179983195 179983195 A T rs201133178 CEP350 Nonsynonymous SNV Q536L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 93884 chr1 111825638 111825638 C T rs557366722 CHIAP2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.933 93885 chr1 154987704 154987704 C T rs141845046 ZBTB7B Nonsynonymous SNV P190S 0.018 0.016 0.01 4 21 6 0.01 3 0 0 0 0 15.63 93886 chr1 115151463 115151463 C T rs142293713 DENND2C Synonymous SNV P410P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.93 93887 chr19 49254504 49254504 G A rs2071699 FUT1 Nonsynonymous SNV A12V 0.03 0.013 0.024 7 35 5 0.018 7 0 0 0 1 14.42 93888 chr19 53884603 53884603 C G rs45625239 ZNF525 Stop gain Y257X 0.003 0 0 4 3 0 0.01 0 0 0 0 0 23.9 93889 chr1 173839540 173839540 T C rs144799687 ZBTB37 Synonymous SNV D59D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.176 93890 chr1 11562893 11562893 C G DISP3 Nonsynonymous SNV R419G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 93891 chr1 174188434 174188434 G A rs760545553 RABGAP1L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 93892 chr1 11710060 11710060 T C rs61731861 FBXO2 Nonsynonymous SNV S155G 0.003 0.01 0 0 4 4 0 0 0 0 0 0 5.117 93893 chr1 155746196 155746196 C A GON4L Nonsynonymous SNV R723M 0.004 0 0 0 5 0 0 0 0 0 0 0 25.4 93894 chr1 156639767 156639767 G C rs140983821 NES Nonsynonymous SNV R1405G 0.006 0.013 0.003 4 7 5 0.01 1 0 0 0 0 13.24 93895 chr1 181702831 181702831 C T rs200952541 CACNA1E Synonymous SNV S1050S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 93896 chr1 117303235 117303235 C T rs148196626 CD2 Synonymous SNV V198V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.54 93897 chr19 49930352 49930352 C A rs117785585 GFY Nonsynonymous SNV T222N 0.006 0.018 0.003 4 7 7 0.01 1 0 0 0 0 20.9 93898 chr10 11908638 11908638 G A rs140851705 PROSER2 Nonsynonymous SNV D83N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 93899 chr1 117619351 117619351 A G rs751511614 TTF2 Synonymous SNV Q493Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.83 93900 chr1 156828358 156828358 G A rs140915043 INSRR Nonsynonymous SNV S19F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.34 93901 chr19 45162059 45162059 C A rs139267469 PVR Nonsynonymous SNV F347L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.437 93902 chr19 50099198 50099198 G A rs200340380 PRR12 Nonsynonymous SNV G536S 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 Likely benign 23.6 93903 chr10 28149640 28149640 C T rs150655393 ARMC4 Nonsynonymous SNV V504M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 93904 chr1 117554216 117554216 G A rs34999087 CD101 Nonsynonymous SNV G157S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 1.546 93905 chr1 157067699 157067699 T C rs61736984 ETV3L Nonsynonymous SNV T190A 0.014 0.034 0.014 7 17 13 0.018 4 0 0 0 0 0.002 93906 chr19 45991768 45991768 A T rs895491351 RTN2 Synonymous SNV I146I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 93907 chr19 46253993 46253993 G A rs78228714 BHMG1 Nonsynonymous SNV A123T 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 15.09 93908 chr1 120468134 120468134 C T rs6692009 NOTCH2 Synonymous SNV R1435R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 10.22 93909 chr1 12175658 12175658 G A rs2230624 TNFRSF8 Nonsynonymous SNV C162Y 0.012 0.021 0.003 1 14 8 0.003 1 1 1 0 0 23.6 93910 chr10 17659238 17659238 G T HACD1 Nonsynonymous SNV P34H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 93911 chr1 158299878 158299878 G A rs138742244 CD1B Nonsynonymous SNV S124F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.012 93912 chr1 181058191 181058191 G T rs61809229 IER5 Synonymous SNV P51P 0.011 0.005 0.014 2 13 2 0.005 4 0 0 0 0 10.14 93913 chr1 120298076 120298076 G A rs756169207 HMGCS2 Synonymous SNV Y345Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.497 93914 chr1 13936974 13936974 C T rs34384359 PDPN Synonymous SNV S56S 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 Benign 13.27 93915 chr1 183196682 183196682 A G rs147889360 LAMC2 Nonsynonymous SNV I440V 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.013 93916 chr10 24508620 24508620 C T rs61850390 KIAA1217 Nonsynonymous SNV R46C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.3 93917 chr10 46999041 46999041 A C rs139452107 GPRIN2 Nonsynonymous SNV E54A 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 23 93918 chr1 145116027 145116027 T C rs7550440 SEC22B2P, SEC22B3P 0 0 0.082 0 0 0 0 24 0 0 0 0 7.328 93919 chr1 160535338 160535338 A C rs763919463 CD84 Nonsynonymous SNV Y82D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.005 93920 chr1 146585874 146585874 G A rs142317025 NBPF13P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.833 93921 chr1 160650919 160650919 C A rs190382630 CD48 Nonsynonymous SNV G242V 0.016 0.018 0.01 2 19 7 0.005 3 0 0 0 0 Benign 2.961 93922 chr1 186062330 186062330 A C HMCN1 Nonsynonymous SNV T3318P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 93923 chr1 147091401 147091401 T C rs782672030 BCL9 Synonymous SNV Y480Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 93924 chr1 186363085 186363087 TCT - rs556420947 ODR4 S209del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 93925 chr1 18702848 18702848 C T rs138302343 IGSF21 Nonsynonymous SNV R354W 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 35 93926 chr19 5222983 5222983 G A rs182769562 PTPRS Synonymous SNV N918N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.22 93927 chr1 149943111 149943111 G T rs199683061 OTUD7B Nonsynonymous SNV L52I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.2 93928 chr19 48815320 48815320 C T rs372358888 CCDC114 Synonymous SNV P101P 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Likely benign 9.139 93929 chr10 48388783 48388783 A G rs17095789 RBP3 Synonymous SNV L699L 0.009 0.01 0.007 1 10 4 0.003 2 0 0 0 0 Benign 1.808 93930 chr19 52658517 52658517 C T rs147651458 ZNF836 Nonsynonymous SNV V807M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 93931 chr1 159802683 159802683 G A rs3795331 SLAMF8 Nonsynonymous SNV V20M 0.009 0.018 0.027 4 10 7 0.01 8 0 0 0 0 11.78 93932 chr1 201751388 201751388 G A rs763185283 NAV1 Nonsynonymous SNV R192Q 0.003 0 0 0 3 0 0 0 0 0 0 0 30 93933 chr1 19407867 19407867 G A UBR4 Nonsynonymous SNV A5070V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 93934 chr1 160160801 160160801 T C rs150330307 CASQ1 Nonsynonymous SNV M87T 0.022 0.016 0.034 5 26 6 0.013 10 1 0 0 0 16.58 93935 chr19 56733082 56733082 G A ZSCAN5A Synonymous SNV Y334Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.359 93936 chr1 160268981 160268981 G A rs79304843 COPA Synonymous SNV L590L 0.024 0.018 0.034 5 28 7 0.013 10 2 0 0 0 Benign 11.35 93937 chr1 151491175 151491175 C T rs142876758 CGN Synonymous SNV I60I 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 15.98 93938 chr1 202407189 202407189 - T rs758220522 PPP1R12B Frameshift insertion H503Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 93939 chr19 49633312 49633312 T G rs371608072 PPFIA3 Nonsynonymous SNV D215E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.726 93940 chr10 38121693 38121693 T C rs146633481 ZNF248 Nonsynonymous SNV N197S 0.001 0.008 0 4 1 3 0.01 0 0 0 0 0 0.001 93941 chr1 204228843 204228843 C T rs55644825 PLEKHA6 Nonsynonymous SNV V184I 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 17.15 93942 chr1 200878026 200878026 A T rs41313912 INAVA Nonsynonymous SNV Y248F 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Pathogenic 26.7 93943 chr1 162562526 162562526 G A rs41271989 UAP1 Nonsynonymous SNV A455T 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 21.7 93944 chr1 15421356 15421356 G C KAZN Nonsynonymous SNV V492L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 93945 chr1 153751860 153751860 C - rs572408453 SLC27A3 H598Tfs*30 0.003 0 0.007 0 3 0 0 2 0 0 0 0 93946 chr19 53618536 53618536 C G rs150409873 ZNF415 Synonymous SNV S33S 0.019 0.016 0.007 5 22 6 0.013 2 1 1 0 0 0.185 93947 chr1 154310064 154310064 G A rs761882259 ATP8B2 Nonsynonymous SNV G360S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.752 93948 chr1 154407602 154407602 T C IL6R Synonymous SNV A259A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.127 93949 chr19 53668313 53668313 C T rs754940609 ZNF665 Nonsynonymous SNV R477Q 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.017 93950 chr19 50339548 50339548 G A rs57854058 MED25 Synonymous SNV A677A 0.007 0.01 0.017 9 8 4 0.023 5 0 0 0 0 Benign 13.52 93951 chr19 50354293 50354293 C A PTOV1 Synonymous SNV P52P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.89 93952 chr19 50370404 50370404 G A rs3739168 PNKP Nonsynonymous SNV P20S 0.007 0.01 0.017 12 8 4 0.031 5 0 0 0 0 Benign/Likely benign 7.817 93953 chr1 166818310 166818310 G C rs143520580 POGK Nonsynonymous SNV S47T 0.015 0.003 0.007 4 18 1 0.01 2 0 0 0 0 0.007 93954 chr1 207105843 207105843 C G rs148554144 PIGR Nonsynonymous SNV V656L 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 7.356 93955 chr19 53855944 53855944 T C rs142729081 ZNF845 Synonymous SNV F672F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.533 93956 chr1 167038219 167038219 C A rs72689400 GPA33 Nonsynonymous SNV V119F 0.011 0.008 0.007 3 13 3 0.008 2 0 0 0 0 24.3 93957 chr10 71174807 71174807 C T rs148031991 TACR2 Nonsynonymous SNV A161T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 93958 chr19 58058351 58058351 G A rs142851113 ZNF550 Nonsynonymous SNV H421Y 0.005 0.016 0.003 2 6 6 0.005 1 0 0 0 0 25.6 93959 chr19 50548560 50548560 C T rs907804262 ZNF473 Nonsynonymous SNV T275I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.24 93960 chr19 54561702 54561702 T G rs367761217 VSTM1 Nonsynonymous SNV E71D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 93961 chr1 155221560 155221560 G T rs145445305 FAM189B Nonsynonymous SNV P157Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 26.9 93962 chr19 54721203 54721203 C T rs1132612 LILRB3 Synonymous SNV R579R 0.026 0.029 0.003 9 30 11 0.023 1 0 0 0 0 8.211 93963 chr1 169660939 169660939 T C rs4987382 SELL Nonsynonymous SNV N369D 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 7.391 93964 chr1 175292499 175292499 C A rs142664142 TNR Nonsynonymous SNV Q1024H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.6 93965 chr1 176563980 176563980 G C rs202065297 PAPPA2 Nonsynonymous SNV E414Q 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 13.25 93966 chr1 213009253 213009253 A G rs957610975 SPATA45 Nonsynonymous SNV L80P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.3 93967 chr10 50946307 50946307 C T rs202185236 OGDHL Nonsynonymous SNV G565D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 32 93968 chr1 213415139 213415139 A G rs906168658 RPS6KC1 Nonsynonymous SNV R309G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 93969 chr10 75187395 75187395 G A rs150492078 MSS51 Nonsynonymous SNV S118F 0.001 0 0.017 1 1 0 0.003 5 0 0 0 0 26.6 93970 chr1 171763564 171763564 T G EEF1AKNMT Nonsynonymous SNV F418L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 93971 chr10 60573675 60573675 G A rs142515390 BICC1 Nonsynonymous SNV G821E 0.006 0.003 0 8 7 1 0.021 0 0 0 0 0 Likely benign 29.6 93972 chr1 17292505 17292505 G A rs149111636 CROCC Synonymous SNV R1529R 0.006 0.005 0.014 0 7 2 0 4 0 0 0 0 7.206 93973 chr1 215853692 215853692 G A rs55921307 USH2A Synonymous SNV Y4031Y 0.004 0 0.014 2 5 0 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.483 93974 chr1 207135828 207135828 G A rs147389157 FCAMR Nonsynonymous SNV H128Y 0.003 0 0 3 4 0 0.008 0 0 0 0 0 19.94 93975 chr19 629897 629897 C T rs144975902 POLRMT Synonymous SNV A155A 0.012 0.016 0.007 12 14 6 0.031 2 0 0 0 0 Benign 11.77 93976 chr1 174957901 174957901 A C rs747335202 RABGAP1L Nonsynonymous SNV K179Q 0.003 0 0 0 3 0 0 0 0 0 0 0 16.3 93977 chr10 85984198 85984198 A G LRIT2 Synonymous SNV N261N 0.001 0 0 6 1 0 0.015 0 0 0 0 0 0.114 93978 chr1 20827257 20827257 C T rs139030069 MUL1 Nonsynonymous SNV A329T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 93979 chr10 87615940 87615940 T C rs1039051794 GRID1 Nonsynonymous SNV N320S 0.004 0 0 0 5 0 0 0 0 0 0 0 6.241 93980 chr10 88418433 88418433 T C rs769509506 OPN4 Nonsynonymous SNV F206S 0.001 0 0 6 1 0 0.015 0 0 0 0 0 29.1 93981 chr1 180886126 180886126 G A rs201745892 KIAA1614 Nonsynonymous SNV R296Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.648 93982 chr1 181058345 181058345 G A rs200142413 IER5 Nonsynonymous SNV E103K 0.006 0.008 0.01 0 7 3 0 3 0 1 0 0 0.544 93983 chr10 70679718 70679718 T C DDX50 Nonsynonymous SNV M407T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.51 93984 chr1 159802845 159802845 G A rs34249690 SLAMF8 Nonsynonymous SNV G74R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 93985 chr1 2113332 2113332 T C rs113065703 PRKCZ-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.847 93986 chr1 21268143 21268143 T C rs141254078 EIF4G3 Nonsynonymous SNV I446V 0.002 0.003 0.017 0 2 1 0 5 0 0 0 0 0.063 93987 chr1 160136822 160136822 C A ATP1A4 Nonsynonymous SNV N437K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 93988 chr10 92662043 92662043 C T rs146506409 RPP30 Synonymous SNV L280L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.82 93989 chr1 160163619 160163619 C T rs138196284 CASQ1 Synonymous SNV I149I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 19.53 93990 chr1 180063001 180063001 A C rs146986209 CEP350 Synonymous SNV R2587R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 93991 chr1 21560080 21560080 A G rs2228321 ECE1 Synonymous SNV D535D 0.037 0.029 0.044 10 44 11 0.026 13 1 0 0 0 Benign 9.169 93992 chr1 16101218 16101218 G A rs199815548 FBLIM1 Nonsynonymous SNV A176T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 93993 chr1 215799210 215799210 A G rs77792891 USH2A Synonymous SNV Y5174Y 0.003 0 0.01 0 4 0 0 3 0 0 1 0 Benign 0.831 93994 chr1 216424275 216424275 C G rs696723 USH2A Nonsynonymous SNV G713R 0.006 0.005 0.02 9 7 2 0.023 6 0 0 0 0 Benign/Likely benign 26.5 93995 chr1 225603025 225603025 C T rs937215428 LBR Nonsynonymous SNV G283R 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 34 93996 chr1 216591934 216591934 T C rs73102592 USH2A Synonymous SNV V191V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 8.133 93997 chr19 56614270 56614270 G A ZNF787 Nonsynonymous SNV P106L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.895 93998 chr19 53410025 53410050 GTGTGAATTACAGTATGTTGTGCCAG - ZNF888 L509Wfs*8 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 93999 chr1 218475847 218475847 G T rs77979592 RRP15 Nonsynonymous SNV K117N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 94000 chr1 16271000 16271000 C T rs927212848 ZBTB17 Nonsynonymous SNV R307H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 94001 chr1 19584336 19584336 G A rs116573119 MRTO4 Synonymous SNV T117T 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 9.284 94002 chr10 79396636 79396636 G C rs956307835 KCNMA1 Synonymous SNV T169T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 8.303 94003 chr1 16451722 16451722 C T rs114895977 EPHA2 Synonymous SNV G919G 0.008 0.005 0.014 1 9 2 0.003 4 0 0 0 0 Benign 13.39 94004 chr1 16559044 16559044 C A rs149140682 CPLANE2 Nonsynonymous SNV G163V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.19 94005 chr1 16462174 16462174 C T rs1043892185 EPHA2 Synonymous SNV K414K 0.003 0 0 0 4 0 0 0 0 0 0 0 14.88 94006 chr1 186276885 186276885 G A rs780333147 PRG4 Synonymous SNV K544K 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 5.117 94007 chr1 167794079 167794079 G A rs148366922 ADCY10 Synonymous SNV Y1102Y 0.002 0.003 0.017 0 2 1 0 5 0 0 0 0 Benign 8.08 94008 chr19 8999552 8999552 A C MUC16 Nonsynonymous SNV D13541E 0.016 0.013 0 7 19 5 0.018 0 0 0 0 0 14.44 94009 chr19 58038956 58038956 G A rs374139448 ZNF549 Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 94010 chr10 102054324 102054324 T C rs142914565 PKD2L1 Nonsynonymous SNV T496A 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 24.2 94011 chr1 169509923 169509923 A G rs144262027 F5 Nonsynonymous SNV S1469P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 94012 chr1 169511117 169511117 G A rs146408488 F5 Nonsynonymous SNV H1071Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.55 94013 chr19 58453033 58453033 G T ZNF256 Stop gain C381X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 94014 chr1 169565254 169565254 A G rs774689570 SELP Synonymous SNV F670F 0.002 0 0 0 2 0 0 0 0 0 0 0 5.365 94015 chr1 175086153 175086153 C A rs116663940 TNN Nonsynonymous SNV A733D 0 0 0.014 0 0 0 0 4 0 0 0 0 25.6 94016 chr1 20005834 20005834 G A rs6321 HTR6 Synonymous SNV P432P 0.007 0 0 4 8 0 0.01 0 1 0 0 0 Benign 9.207 94017 chr1 175097867 175097867 C T rs61740201 TNN Synonymous SNV D1105D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.913 94018 chr1 201751989 201751989 C A rs35144347 NAV1 Synonymous SNV T392T 0.011 0.018 0.007 6 13 7 0.015 2 0 0 0 0 Benign 17.95 94019 chr1 200946362 200946362 C T rs759837389 KIF21B Nonsynonymous SNV V1422I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 28.5 94020 chr10 95093589 95093589 C T rs762488103 MYOF Nonsynonymous SNV V1536I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 94021 chr1 202129719 202129719 G A rs765774360 PTPN7 Stop gain Q73X 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 36 94022 chr19 6190599 6190599 A G rs35521854 ACSBG2 Synonymous SNV P644P 0.013 0.018 0.003 1 15 7 0.003 1 0 0 0 0 0.047 94023 chr1 17743030 17743030 A T rs772040346 RCC2 Synonymous SNV I324I 0 0 0.01 0 0 0 0 3 0 0 0 0 0.786 94024 chr10 96602691 96602691 C T rs17882744 CYP2C19 Synonymous SNV H353H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 9.877 94025 chr1 228463625 228463625 G A rs373131328 OBSCN Nonsynonymous SNV A2040T 0.006 0 0 0 7 0 0 0 0 0 0 0 7.827 94026 chr19 6415877 6415877 T G rs554522870 KHSRP Synonymous SNV P543P 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 Benign 10.72 94027 chr1 203743030 203743030 G A rs750349730 LAX1 Nonsynonymous SNV E124K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.029 94028 chr1 228612904 228612904 G A rs747686814 H3-4 Synonymous SNV R41R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.615 94029 chr1 236736066 236736066 C T HEATR1 Synonymous SNV L1174L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 94030 chr1 205133024 205133024 G T rs77626160 DSTYK Synonymous SNV R462R 0.032 0.016 0.014 7 37 6 0.018 4 1 0 0 0 10.73 94031 chr19 758081 758081 G A rs372474785 MISP Nonsynonymous SNV D379N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.434 94032 chr1 205632010 205632010 G A rs753727005 SLC45A3 Synonymous SNV G303G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.39 94033 chr1 232941535 232941535 G A rs201385301 MAP10 Nonsynonymous SNV A256T 0.002 0 0 4 2 0 0.01 0 0 0 0 0 7.021 94034 chr10 115602163 115602163 T C rs772667890 DCLRE1A Synonymous SNV L868L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.956 94035 chr1 2338223 2338223 C G rs61736380 PEX10 Nonsynonymous SNV G238R 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Uncertain significance 13.32 94036 chr1 204120863 204120863 G A ETNK2 Nonsynonymous SNV R40W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 94037 chr1 18554441 18554441 C T rs192445635 IGSF21 Synonymous SNV D40D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 94038 chr19 56736352 56736352 G A ZSCAN5A Synonymous SNV L75L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.96 94039 chr1 206811024 206811024 T C rs782765241 DYRK3 Nonsynonymous SNV M36T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 94040 chr1 185972869 185972869 T A HMCN1 Synonymous SNV G1456G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.521 94041 chr1 207039710 207039710 G T rs138566326 IL20 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.5 94042 chr19 812801 812801 C G rs3746137 PLPPR3 Synonymous SNV S670S 0.013 0.003 0.02 7 15 1 0.018 6 4 0 0 3 11.8 94043 chr1 186367469 186367469 A G rs770209712 ODR4 Nonsynonymous SNV T246A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 94044 chr1 186368092 186368092 A C rs76602544 ODR4 Nonsynonymous SNV K283Q 0.011 0.008 0.003 5 13 3 0.013 1 1 0 0 0 26 94045 chr1 204242778 204242778 G A rs35170315 PLEKHA6 Synonymous SNV V26V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 3.197 94046 chr1 186946869 186946869 A G rs28395831 PLA2G4A Nonsynonymous SNV I577V 0.026 0.021 0.017 2 30 8 0.005 5 0 0 0 0 Benign 2.975 94047 chr1 179886769 179886769 G A rs149690630 TOR1AIP1 Nonsynonymous SNV D384N 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 Likely benign 24.5 94048 chr1 207237144 207237144 T A rs775487245 PFKFB2 Nonsynonymous SNV D159E 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 22.6 94049 chr1 243471462 243471462 C T rs976529 SDCCAG8 Synonymous SNV T206T 0.053 0.049 0.054 7 62 19 0.018 16 2 2 1 0 Benign 13 94050 chr1 204943902 204943902 C T rs16854838 NFASC Synonymous SNV A514A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 14.34 94051 chr1 205034351 205034351 C A rs145352110 CNTN2 Nonsynonymous SNV D552E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 94052 chr10 104262363 104262363 G T rs765574992 ACTR1A Synonymous SNV I14I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.48 94053 chr10 104389885 104389885 C T rs777069460 SUFU Synonymous SNV D476D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.26 94054 chr1 236918426 236918426 G C rs748034053 ACTN2 Nonsynonymous SNV K694N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.7 94055 chr1 205492343 205492343 A G rs74876058 CDK18 Synonymous SNV S16S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.796 94056 chr19 5784545 5784545 T A rs375731438 PRR22 Nonsynonymous SNV M43L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.078 94057 chr19 5784546 5784546 A G rs889181526 PRR22 Synonymous SNV A42A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.004 94058 chr1 240256781 240256781 G A rs142335257 FMN2 Nonsynonymous SNV A458T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.64 94059 chr1 205628428 205628428 C G rs7540439 SLC45A3 Synonymous SNV L532L 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 10.42 94060 chr19 57876290 57876290 C A rs748076238 TRAPPC2B Nonsynonymous SNV S30Y 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 20.6 94061 chr1 206225239 206225239 A G rs36030374 AVPR1B Nonsynonymous SNV S267G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 94062 chr1 10523626 10523626 A G rs78046004 DFFA Nonsynonymous SNV C165R 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 Benign 0.29 94063 chr1 10708107 10708107 G A rs138085050 CASZ1 Nonsynonymous SNV A1083V 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 22.7 94064 chr1 206649681 206649681 G A rs41296030 IKBKE Synonymous SNV S87S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 1.603 94065 chr1 206681323 206681323 C T rs77707044 RASSF5 Synonymous SNV L130L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.02 94066 chr1 200870214 200870214 G C rs777884844 INAVA Nonsynonymous SNV E149D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.47 94067 chr1 207082819 207082819 G C rs528456314 FCMR Nonsynonymous SNV R301G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.694 94068 chr1 184859325 184859325 C T rs763817830 NIBAN1 Nonsynonymous SNV R117Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.5 94069 chr1 207297676 207297676 T C rs116795518 C4BPA Nonsynonymous SNV I224T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 0.001 94070 chr10 113918140 113918140 T C rs140631959 GPAM Synonymous SNV T638T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 8.501 94071 chr1 186330768 186330768 T C rs201760745 TPR Nonsynonymous SNV K315R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 94072 chr1 207782856 207782856 A G rs17047660 CR1 Nonsynonymous SNV K1590E 0.004 0.018 0.007 1 5 7 0.003 2 0 0 0 0 7.292 94073 chr1 207782889 207782889 A G rs17047661 CR1 Nonsynonymous SNV R1601G 0.008 0.018 0.01 2 9 7 0.005 3 0 0 0 0 0.274 94074 chr1 246078851 246078851 C T rs61762672 SMYD3 Nonsynonymous SNV R265H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 25.3 94075 chr1 216040475 216040475 T G rs780709921 USH2A Nonsynonymous SNV S2907R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 94076 chr19 59080705 59080705 G A rs367707191 MZF1 Synonymous SNV P237P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.888 94077 chr10 128785806 128785806 G A rs201302163 DOCK1 Synonymous SNV P83P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.33 94078 chr1 19018282 19018282 G A rs140086399 PAX7 Synonymous SNV S207S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 94079 chr1 220142231 220142231 G A rs199545183 EPRS1 Nonsynonymous SNV L1486F 0.013 0.01 0 0 15 4 0 0 0 0 0 0 25.3 94080 chr1 247320105 247320105 G T rs33998996 ZNF124 Stop gain Y273X 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 24.8 94081 chr1 220826454 220826454 G C MARK1 Nonsynonymous SNV R561T 0.013 0.01 0 0 15 4 0 0 0 0 0 0 23.1 94082 chr10 129681964 129681964 G A rs549229019 CLRN3 Synonymous SNV L135L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.63 94083 chr10 115922930 115922930 T C rs977261664 CCDC186 Nonsynonymous SNV N33S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 94084 chr10 129866525 129866525 G A rs148708260 PTPRE Nonsynonymous SNV A108T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 94085 chr1 110613000 110613000 G T ALX3 Nonsynonymous SNV P79T 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 94086 chr10 116049152 116049152 - GGAGGCTTG rs553439419 VWA2 L678_A679insGRL 0.017 0.013 0.024 8 20 5 0.021 7 0 0 0 0 94087 chr1 19216512 19216512 C T rs201605414 ALDH4A1 Synonymous SNV L50L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.69 94088 chr1 110996672 110996672 G T rs142388637 PROK1 Synonymous SNV G54G 0.002 0.005 0.003 8 2 2 0.021 1 0 0 0 0 Benign 6.404 94089 chr1 248285985 248285985 T A rs572301878 OR2M1P 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 2.855 94090 chr1 19630782 19630782 G A rs148319333 AKR7A2 Synonymous SNV V304V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 94091 chr1 214815237 214815237 A G rs199839240 CENPF Nonsynonymous SNV N1186D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 8.103 94092 chr1 204950996 204950996 G A rs139205012 NFASC Nonsynonymous SNV R784Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.4 94093 chr1 204957870 204957870 C T rs142292676 NFASC Synonymous SNV S897S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.46 94094 chr10 121602914 121602914 C T rs760237146 MCMBP Synonymous SNV P284P 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 16.9 94095 chr10 121677945 121677945 T C rs764445974 SEC23IP Synonymous SNV D598D 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 5.037 94096 chr1 247901983 247901983 A C rs41305743 OR14K1 Synonymous SNV R23R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 94097 chr10 122334779 122334779 G T rs61730851 PLPP4 Nonsynonymous SNV V153F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.15 94098 chr1 215848668 215848668 G A rs763205825 USH2A Synonymous SNV F4195F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 9.3 94099 chr1 112999275 112999275 G A rs116371881 CTTNBP2NL Synonymous SNV V387V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 4.289 94100 chr1 112999464 112999464 G C rs17030336 CTTNBP2NL Synonymous SNV S450S 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 0.623 94101 chr1 198725254 198725254 G A PTPRC Nonsynonymous SNV G1128R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 94102 chr1 113661918 113661918 C T rs115632277 LRIG2 Nonsynonymous SNV T915I 0.007 0.01 0.003 5 8 4 0.013 1 0 0 0 0 Benign 28.6 94103 chr19 9086635 9086635 C T rs45468007 MUC16 Nonsynonymous SNV G1727E 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 0.012 94104 chr1 208215687 208215687 C T rs764579780 PLXNA2 Nonsynonymous SNV V1348M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 94105 chr1 27278023 27278023 C T rs78691396 KDF1 Synonymous SNV T283T 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 12.89 94106 chr10 126311979 126311979 G A rs142614580 FAM53B Synonymous SNV L367L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.195 94107 chr10 126715201 126715201 G A rs45535234 CTBP2 Synonymous SNV S376S 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 10.17 94108 chr1 202698838 202698838 A T rs200575696 KDM5B Nonsynonymous SNV D1453E 0.003 0 0 3 4 0 0.008 0 0 0 0 0 11.77 94109 chr1 32647133 32647133 C G rs56283088 TXLNA Nonsynonymous SNV R154G 0.007 0.016 0.007 5 8 6 0.013 2 0 0 0 0 25.9 94110 chr1 214551420 214551420 C T rs72757962 PTPN14 Nonsynonymous SNV G857D 0.013 0.01 0.01 2 15 4 0.005 3 0 0 0 0 23 94111 chr1 217793651 217793651 C G rs143204728 GPATCH2 Nonsynonymous SNV E83Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 94112 chr1 109838980 109838980 T C MYBPHL Nonsynonymous SNV K248R 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 21.9 94113 chr1 21889760 21889760 G A rs149344982 ALPL Nonsynonymous SNV R75H 0.03 0.039 0.02 5 35 15 0.013 6 0 1 0 0 Benign/Likely benign 22.9 94114 chr1 20442055 20442055 G A rs753932745 PLA2G2D Synonymous SNV C79C 0.002 0 0 0 2 0 0 0 0 0 0 0 1.83 94115 chr1 220267669 220267669 G C rs116823205 IARS2 Synonymous SNV T37T 0.008 0.003 0.01 5 9 1 0.013 3 0 0 0 1 Benign 6.407 94116 chr11 615196 615196 C T rs11544075 IRF7 Synonymous SNV E41E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.12 94117 chr1 228295534 228295534 A G rs149569641 MRPL55 Synonymous SNV P21P 0.005 0 0 0 6 0 0 0 0 0 0 0 0.893 94118 chr19 900869 900869 C T rs756759415 R3HDM4 Synonymous SNV A145A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.69 94119 chr1 205799439 205799439 G A rs149809121 PM20D1 Nonsynonymous SNV P452S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.7 94120 chr1 27587551 27587551 G A rs78283341 WDTC1 Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.89 94121 chr1 35900520 35900520 C T rs200186246 KIAA0319L Nonsynonymous SNV R1042K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.102 94122 chr19 9024903 9024903 C A rs753147064 MUC16 Nonsynonymous SNV W12320L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 10.58 94123 chr11 988638 988638 C T rs62640021 AP2A2 Synonymous SNV A407A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 94124 chr1 205814498 205814498 G A rs761938080 PM20D1 Synonymous SNV G148G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.004 94125 chr1 3703710 3703710 G A rs2253143 LRRC47 Synonymous SNV V260V 0.014 0.01 0.02 9 17 4 0.023 6 2 0 0 0 8.443 94126 chr1 207195382 207195382 C T rs767293124 C1orf116 Nonsynonymous SNV S330N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 29.2 94127 chr1 228495112 228495112 G A rs201877667 OBSCN Nonsynonymous SNV E4116K 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 25 94128 chr1 38156007 38156007 T C rs770251374 C1orf109 Nonsynonymous SNV R22G 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.047 94129 chr1 23346307 23346307 G T KDM1A Nonsynonymous SNV G73V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 24.9 94130 chr1 31902357 31902357 A G rs144747208 SERINC2 Nonsynonymous SNV I333V 0.005 0 0 4 6 0 0.01 0 0 0 0 0 7.79 94131 chr1 150687120 150687120 A G HORMAD1 Synonymous SNV N71N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 5.495 94132 chr1 224415286 224415286 C T rs182530509 LOC101927164 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 8.746 94133 chr1 209907731 209907731 G C rs41283132 HSD11B1 Synonymous SNV G248G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign/Likely benign 9.48 94134 chr1 21042115 21042115 G A rs34126615 KIF17 Synonymous SNV Y83Y 0.02 0.016 0.014 3 23 6 0.008 4 0 0 0 0 3.664 94135 chr1 226186993 226186993 C G rs199904241 SDE2 Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.212 94136 chr1 227172994 227172994 C T rs201331131 COQ8A Nonsynonymous SNV R538W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 94137 chr1 35370419 35370419 G A rs61739348 DLGAP3 Nonsynonymous SNV A189V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 94138 chr1 36636774 36636774 G A rs139650826 MAP7D1 Synonymous SNV Q83Q 0.012 0.008 0.02 2 14 3 0.005 6 0 0 0 0 Benign 0.242 94139 chr1 153751617 153751617 C T rs144302187 SLC27A3 Synonymous SNV T558T 0.002 0.008 0 6 2 3 0.015 0 0 0 0 0 17.23 94140 chr19 9087666 9087666 T C rs199776145 MUC16 Synonymous SNV A1383A 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 0.301 94141 chr1 215793411 215793411 G A KCTD3 Synonymous SNV Q631Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.03 94142 chr1 44086792 44086792 G A rs781222236 PTPRF Synonymous SNV V1544V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.8 94143 chr1 217793655 217793655 C T rs202152241 GPATCH2 Synonymous SNV P81P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.178 94144 chr1 44605396 44605396 G T rs945653114 KLF18 Nonsynonymous SNV N636K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.122 94145 chr1 1222530 1222530 G A rs752844730 SCNN1D Synonymous SNV T387T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.953 94146 chr1 12316492 12316492 C T rs200178194 VPS13D Nonsynonymous SNV R258W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.3 94147 chr1 24417408 24417408 G A rs200882626 MYOM3 Synonymous SNV L437L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.03 94148 chr1 45279421 45279421 T C BTBD19 Nonsynonymous SNV F285L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.51 94149 chr11 1054346 1054346 C A rs117976357 LINC02688 0.001 0 0 0 1 0 0 0 0 0 0 0 1.846 94150 chr1 155148520 155148520 G A rs80254867 TRIM46 Nonsynonymous SNV R35H 0.01 0.018 0.003 3 12 7 0.008 1 0 0 0 0 28.7 94151 chr11 1079659 1079659 C T rs372030775 MUC2 Synonymous SNV P292P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.581 94152 chr1 46497902 46497902 G A rs762449423 MAST2 Synonymous SNV S1080S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.45 94153 chr19 964983 964983 C T rs149321378 ARID3A Synonymous SNV H367H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.262 94154 chr1 41486326 41486326 G A rs114966747 SLFNL1 Nonsynonymous SNV P3S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 94155 chr1 46806513 46806513 A G rs563276785 NSUN4 Synonymous SNV T5T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.019 94156 chr1 229730130 229730130 G C rs370220769 TAF5L Nonsynonymous SNV Q562E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.2 94157 chr1 13910346 13910346 C T rs113350533 PDPN Nonsynonymous SNV R16W 0.008 0.003 0 6 9 1 0.015 0 0 0 0 0 Benign 25.8 94158 chr1 22216581 22216581 G A rs771803144 HSPG2 Nonsynonymous SNV A156V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 13.74 94159 chr1 1560966 1560966 G A rs114944847 MIB2 Nonsynonymous SNV R352H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.5 94160 chr1 100347187 100347187 G T rs139950099 AGL Nonsynonymous SNV A750S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24.6 94161 chr1 47138935 47138935 C T rs139847766 TEX38 Nonsynonymous SNV S143F 0.014 0.01 0.01 4 17 4 0.01 3 0 0 0 0 23.9 94162 chr1 222919899 222919899 C T rs141453662 FAM177B Synonymous SNV D4D 0.007 0 0.003 0 8 0 0 1 0 0 0 0 14.34 94163 chr1 247886733 247886733 T C rs549726598 OR14A2 Nonsynonymous SNV S205G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.122 94164 chr1 236205448 236205448 C T rs750904589 NID1 Synonymous SNV A299A 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 13.87 94165 chr11 3059360 3059360 C A rs12796489 CARS Nonsynonymous SNV A158S 0.012 0.031 0.024 9 14 12 0.023 7 0 0 1 1 Benign 9.431 94166 chr11 3239818 3239818 C T rs111693331 MRGPRG Nonsynonymous SNV A76T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.156 94167 chr1 109794885 109794885 C T CELSR2 Synonymous SNV G728G 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 7.66 94168 chr1 226924664 226924664 T G rs753100926 ITPKB Nonsynonymous SNV S166R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 94169 chr1 237819228 237819228 A G RYR2 Synonymous SNV K2691K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.973 94170 chr11 4615808 4615808 C G OR52I1 Nonsynonymous SNV H180Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 94171 chr1 152128179 152128179 - CTGACCATAGTGGGAACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGGAATTCTGGCCTTGTCTGTCTGG RPTN Q465_T466insPDRQGQNSHYGQTDRQGQSSHYGQ 0.001 0.005 0 0 1 2 0 0 0 1 0 0 94172 chr1 227259910 227259910 C G CDC42BPA Nonsynonymous SNV K861N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 94173 chr1 57395228 57395228 G A rs61737417 C8B Nonsynonymous SNV T542I 0.006 0.005 0 5 7 2 0.013 0 0 0 0 1 Likely benign 0.033 94174 chr1 5925319 5925319 G A rs758049366 NPHP4 Nonsynonymous SNV A708V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 22.6 94175 chr1 111741322 111741322 G A rs35184750 DENND2D Synonymous SNV L93L 0.01 0.01 0.003 3 12 4 0.008 1 0 0 0 0 9.014 94176 chr1 5940243 5940243 G A rs17472401 NPHP4 Nonsynonymous SNV R336W 0.013 0.023 0.007 4 15 9 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 94177 chr11 1587021 1587021 A C rs138137110 DUSP8 Nonsynonymous SNV D12E 0.009 0 0.003 7 10 0 0.018 1 1 0 0 0 20.1 94178 chr1 159902316 159902316 G A IGSF9 Nonsynonymous SNV R411C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 34 94179 chr1 2426346 2426346 C T rs567604431 PLCH2 Nonsynonymous SNV R544C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 94180 chr1 52827213 52827218 TCCTCC - rs530661837 CC2D1B E96_E97del 0.009 0 0.01 6 10 0 0.015 3 0 0 0 0 94181 chr1 52854211 52854211 G A rs766273256 ORC1 Nonsynonymous SNV P429L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 94182 chr1 26110236 26110236 G A rs79507311 MAN1C1 Nonsynonymous SNV V617M 0.015 0.018 0.01 5 18 7 0.013 3 1 0 0 0 25 94183 chr1 228504663 228504663 C G OBSCN Synonymous SNV A4513A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.68 94184 chr1 55050409 55050409 G A ACOT11 Nonsynonymous SNV E39K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 94185 chr11 5221655 5221655 C T OR51V1 Synonymous SNV G92G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.78 94186 chr1 248202347 248202347 C T rs143360089 OR2L2 Nonsynonymous SNV R260C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.49 94187 chr1 55172208 55172208 T C rs12090399 MROH7 Nonsynonymous SNV I740T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 94188 chr1 27320928 27320928 C T rs1047344678 TRNP1 Synonymous SNV S217S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.77 94189 chr1 55472790 55472790 G T rs201387711 BSND Nonsynonymous SNV L131F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 94190 chr1 155735239 155735239 C T rs62000992 GON4L Nonsynonymous SNV R1342H 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 12.6 94191 chr1 57397497 57397497 A T rs143417649 C8B Nonsynonymous SNV V536D 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 94192 chr1 248685330 248685330 G A rs773244859 OR2G6 Nonsynonymous SNV R128Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.783 94193 chr1 118486119 118486119 A G rs141364091 WDR3 Nonsynonymous SNV T400A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.032 94194 chr1 156213864 156213864 C T rs780077337 PAQR6 Nonsynonymous SNV E142K 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 22.7 94195 chr1 156255045 156255045 C A rs145032352 TMEM79 Nonsynonymous SNV L10M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.8 94196 chr1 156449585 156449585 T C rs61752714 MEF2D Nonsynonymous SNV T134A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.512 94197 chr1 1190772 1190772 G A rs142877043 UBE2J2 Synonymous SNV L145L 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 4.966 94198 chr1 24921935 24921935 C T rs771443096 NCMAP Nonsynonymous SNV T5I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 94199 chr1 32647062 32647062 A G rs149920094 TXLNA Nonsynonymous SNV N130S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.5 94200 chr1 26488569 26488569 C G FAM110D Nonsynonymous SNV R263G 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 94201 chr1 26212220 26212220 A C rs188562570 STMN1 Nonsynonymous SNV H173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.067 94202 chr1 33478854 33478854 G A rs201622956 AK2 Synonymous SNV P174P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 12.2 94203 chr1 236720540 236720540 A G rs138040704 HEATR1 Synonymous SNV T1770T 0.001 0.005 0 0 1 2 0 0 0 1 0 0 8.102 94204 chr1 27480600 27480600 G A rs141715004 SLC9A1 Nonsynonymous SNV H76Y 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Uncertain significance 11.95 94205 chr1 27648785 27648785 G A rs201883680 TMEM222 Nonsynonymous SNV D33N 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 23 94206 chr1 85725290 85725290 C T rs199663822 C1orf52 Synonymous SNV L9L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.224 94207 chr1 65016302 65016302 C G rs61731118 CACHD1 Nonsynonymous SNV T75S 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 15.82 94208 chr1 27688743 27688743 T C rs55841735 MAP3K6 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 Likely benign 24.6 94209 chr1 28476520 28476520 T C rs5939 PTAFR Nonsynonymous SNV N338S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.002 94210 chr1 29342206 29342206 G A rs137895267 EPB41 Nonsynonymous SNV V243I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.318 94211 chr1 15844726 15844726 C T rs372801909 CASP9 Synonymous SNV S99S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.08 94212 chr1 176668328 176668328 C T rs182517174 PAPPA2 Nonsynonymous SNV P947S 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 29.2 94213 chr11 5729435 5729435 C A TRIM22 Nonsynonymous SNV S265Y 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 15.21 94214 chr1 38184428 38184428 G A rs376583569 EPHA10 Synonymous SNV G939G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.61 94215 chr1 32673133 32673133 C T rs759913479 IQCC Nonsynonymous SNV P364L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.698 94216 chr1 159021871 159021871 G A rs371196311 IFI16 Nonsynonymous SNV V634M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.4 94217 chr11 6570070 6570070 G A DNHD1 Nonsynonymous SNV G2432S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 94218 chr1 33960031 33960031 A G rs200743461 ZSCAN20 Nonsynonymous SNV K696R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 24.9 94219 chr11 6807212 6807212 C T rs771028005 OR2AG1 Nonsynonymous SNV T315M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.716 94220 chr1 159684233 159684233 G A rs775254047 CRP Nonsynonymous SNV H15Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 94221 chr1 34329954 34329954 - CATGAAAAGGCCAAATATGAAGCCCTGGCCAAACTCGACAAAGCCCGATA rs756824775 HMGB4 Frameshift insertion Q72Mfs*21 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 94222 chr1 160389323 160389323 C G rs147526057 VANGL2 Nonsynonymous SNV L242V 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 23.4 94223 chr1 34330096 34330096 C T HMGB4 Nonsynonymous SNV L28F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 94224 chr1 35656381 35656381 T C rs149880317 SFPQ Synonymous SNV T411T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 4.728 94225 chr11 7022587 7022587 G A ZNF214 Synonymous SNV L109L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.025 94226 chr1 247587771 247587771 C T rs41311573 NLRP3 Synonymous SNV P342P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 10.25 94227 chr1 36893930 36893930 C T rs115388124 OSCP1 Stop gain W221X 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 7.18 94228 chr1 36766604 36766604 G A rs61739346 THRAP3 Synonymous SNV T807T 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 16.35 94229 chr1 161092942 161092942 C T rs760440014 DEDD Nonsynonymous SNV R168Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 17.27 94230 chr1 38280883 38280883 C T rs149943585 MTF1 Synonymous SNV P729P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.61 94231 chr1 38412003 38412003 C A INPP5B Nonsynonymous SNV V4L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.941 94232 chr1 935105 935105 G C rs754074223 HES4 Synonymous SNV L83L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.993 94233 chr1 94057740 94057740 C T rs1045810942 BCAR3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.12 94234 chr11 6646584 6646584 C T rs7924553 DCHS1 Nonsynonymous SNV V2331I 0.013 0.008 0.014 7 15 3 0.018 4 0 0 0 0 8.803 94235 chr11 6651975 6651975 C G rs189155397 DCHS1 Synonymous SNV L1350L 0.013 0.008 0.01 7 15 3 0.018 3 0 0 0 0 4.256 94236 chr11 6652416 6652416 C T rs12292546 DCHS1 Synonymous SNV L1266L 0.013 0.008 0.014 7 15 3 0.018 4 0 0 0 0 4.277 94237 chr1 43651024 43651024 C G rs74857529 CFAP57 Nonsynonymous SNV I322M 0.009 0.026 0.003 3 11 10 0.008 1 0 1 0 0 23.2 94238 chr1 40928969 40928969 A G rs142239725 ZFP69B Nonsynonymous SNV Q438R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.06 94239 chr1 40961116 40961116 T C rs61781612 ZFP69 Synonymous SNV T323T 0 0 0.007 0 0 0 0 2 0 0 0 0 1.149 94240 chr1 165667795 165667795 T G rs201507277 ALDH9A1 Star tloss M1? 0.014 0.005 0.01 7 16 2 0.018 3 1 0 0 0 4.047 94241 chr1 43240524 43240524 C T C1orf50 Synonymous SNV S133S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.01 94242 chr1 19453111 19453111 T C rs143005308 UBR4 Synonymous SNV L3089L 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 0.7 94243 chr1 19473474 19473474 T C rs141196581 UBR4 Synonymous SNV K2550K 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 0.786 94244 chr1 43680952 43680952 C T rs74422853 CFAP57 Synonymous SNV F652F 0.011 0 0.014 1 13 0 0.003 4 0 0 0 0 17.36 94245 chr1 19484438 19484438 G A rs145665616 UBR4 Synonymous SNV Y1877Y 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 6.898 94246 chr1 19503178 19503178 C A rs143130698 UBR4 Nonsynonymous SNV G894V 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Likely benign 22.7 94247 chr1 43851797 43851797 G A rs11541153 MED8 Synonymous SNV G109G 0.041 0.029 0.061 9 48 11 0.023 18 1 0 1 0 6.856 94248 chr1 19503181 19503181 C T rs111984259 UBR4 Nonsynonymous SNV S893N 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 Benign 12.53 94249 chr1 43890864 43890864 C T rs140831372 SZT2 Synonymous SNV T877T 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 Benign/Likely benign 13.81 94250 chr1 43891273 43891273 A T rs146937951 SZT2 Nonsynonymous SNV K925M 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Uncertain significance 16.66 94251 chr1 19511674 19511674 G A rs141838691 UBR4 Synonymous SNV S619S 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 9.376 94252 chr1 19634747 19634747 C T rs111682618 AKR7A2 Nonsynonymous SNV V166M 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 25.3 94253 chr1 19634964 19634964 C G rs859208 AKR7A2 Nonsynonymous SNV Q157H 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 3.846 94254 chr1 90484321 90484321 A C rs138813655 ZNF326 Synonymous SNV I178I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.978 94255 chr11 7950065 7950065 C T rs201131139 OR10A6 Nonsynonymous SNV V49I 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 12.79 94256 chr1 47101556 47101556 G C rs139683803 ATPAF1 Synonymous SNV T248T 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 9.828 94257 chr1 171509248 171509248 G A rs890453525 PRRC2C Synonymous SNV V879V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 94258 chr11 14900714 14900714 G A rs140424660 CYP2R1 Synonymous SNV L426L 0.009 0.01 0.01 2 10 4 0.005 3 0 0 0 0 Benign 8.266 94259 chr1 200992473 200992473 G A rs765402849 KIF21B Synonymous SNV V13V 0 0 0 5 0 0 0.013 0 0 0 0 0 19.24 94260 chr1 92789859 92789859 T G rs749896339 RPAP2 Nonsynonymous SNV L461R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 94261 chr1 9324233 9324233 G A rs150080584 H6PD Nonsynonymous SNV E572K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 94262 chr1 4772716 4772716 C T rs78250331 AJAP1 Synonymous SNV N262N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.076 94263 chr1 158590149 158590149 A T rs191322728 SPTA1 Nonsynonymous SNV N2076K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.9 94264 chr1 47882605 47882605 C G rs189628587 FOXE3 Synonymous SNV A206A 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 11.35 94265 chr1 48694599 48694599 C G rs200586919 SLC5A9 Synonymous SNV G104G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.28 94266 chr1 27159079 27159079 C T rs145698278 ZDHHC18 Synonymous SNV A159A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 20.3 94267 chr1 17586244 17586244 C T rs771465297 PADI3 Synonymous SNV N88N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 94268 chr1 94497424 94497424 C T rs142418039 ABCA4 Synonymous SNV T1346T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.17 94269 chr11 11976460 11976460 G T rs1001861068 USP47 Nonsynonymous SNV G1070V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.1 94270 chr1 158669771 158669772 AG - rs554132851 OR6K2 A224Gfs*68 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 94271 chr1 158669774 158669774 - T rs574102205 OR6K2 Frameshift insertion A224Gfs*69 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 94272 chr1 53446176 53446176 G A SCP2 Nonsynonymous SNV E268K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 94273 chr1 201355636 201355636 T C rs199579589 LAD1 Nonsynonymous SNV T285A 0.01 0.008 0.007 8 12 3 0.021 2 0 0 0 0 0.001 94274 chr1 982213 982213 G C rs150132566 AGRN Nonsynonymous SNV L1088F 0.015 0.005 0 4 18 2 0.01 0 0 0 0 0 Benign/Likely benign 0.001 94275 chr1 982783 982783 T C rs146358566 AGRN Synonymous SNV A1155A 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 Benign/Likely benign 0.189 94276 chr1 158988319 158988319 C T rs149606671 IFI16 Nonsynonymous SNV P228S 0.01 0.01 0.014 1 12 4 0.003 4 1 0 0 0 0.331 94277 chr1 983506 983506 C T rs139294803 AGRN Nonsynonymous SNV P1289L 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 Benign/Likely benign 0.128 94278 chr1 987142 987142 C T rs17778478 AGRN Synonymous SNV T1866T 0.014 0.008 0.003 3 17 3 0.008 1 0 0 0 0 Benign 8.307 94279 chr1 57258302 57258302 G A rs113615783 FYB2 Nonsynonymous SNV R62C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.52 94280 chr1 159277709 159277709 C T rs143419433 FCER1A Nonsynonymous SNV P254L 0.006 0 0.007 0 7 0 0 2 1 0 0 0 Benign 19.72 94281 chr20 20582369 20582369 C T rs374922813 RALGAPA2 Synonymous SNV P720P 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 11.77 94282 chr1 179587765 179587765 A G rs114144991 TDRD5 Nonsynonymous SNV Q288R 0.008 0.005 0.014 0 9 2 0 4 0 0 0 0 12.15 94283 chr20 23065486 23065486 C T rs41471444 CD93 Synonymous SNV G448G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 13.12 94284 chr1 55472856 55472856 C T rs138974602 BSND Synonymous SNV D153D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 11.8 94285 chr1 33838009 33838009 C T rs890610555 PHC2 Nonsynonymous SNV A72T 0.003 0 0 0 3 0 0 0 0 0 0 0 28.3 94286 chr1 204093967 204093967 G A rs200149789 SOX13 Nonsynonymous SNV R525H 0.001 0 0.003 7 1 0 0.018 1 0 0 0 0 34 94287 chr11 22851247 22851247 C T rs778550565 SVIP Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 94288 chr11 18728591 18728593 GAA - rs543347161 IGSF22 F1150del 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 94289 chr1 204210536 204210536 A G PLEKHA6 Synonymous SNV N792N 0 0 0 6 0 0 0.015 0 0 0 0 0 0.194 94290 chr20 2444495 2444495 G A rs112240907 SNRPB Synonymous SNV I106I 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 14.59 94291 chr1 204380304 204380304 T A rs778000547 PPP1R15B Nonsynonymous SNV Q79L 0 0 0 4 0 0 0.01 0 0 0 0 0 27.5 94292 chr11 31561287 31561287 T C rs201333718 ELP4 Nonsynonymous SNV L113S 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 Benign 23.3 94293 chr20 17474721 17474722 AA - rs548358901 BFSP1 *541delinsKCPGLMG* 0.003 0 0 0 4 0 0 0 0 0 0 0 94294 chr1 35250910 35250910 G A rs74315318 GJB3 Nonsynonymous SNV E183K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 94295 chr20 2592983 2592983 C T rs751058031 TMC2 Synonymous SNV G580G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.07 94296 chr1 5933386 5933386 C G rs373981841 NPHP4 Nonsynonymous SNV G569R 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 7.794 94297 chr1 35496159 35496159 C G rs139761789 ZMYM6 Nonsynonymous SNV D28H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29 94298 chr1 164789359 164789359 G A rs750360584 PBX1 Nonsynonymous SNV V267M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.42 94299 chr1 16558585 16558585 C T rs200866605 CPLANE2 Synonymous SNV A245A 0.005 0 0 0 6 0 0 0 0 0 0 0 14.3 94300 chr1 185970519 185970519 A T rs141437512 HMCN1 Nonsynonymous SNV T1387S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.753 94301 chr20 2082781 2082781 G C rs35569160 STK35 Nonsynonymous SNV G85A 0.003 0 0.003 6 4 0 0.015 1 0 0 0 0 0.004 94302 chr1 62910632 62910632 A G USP1 Nonsynonymous SNV K261E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.606 94303 chr1 186269330 186269330 A G PRG4 Nonsynonymous SNV R62G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 94304 chr1 169094216 169094216 G A rs61742560 ATP1B1 Synonymous SNV R107R 0.015 0.008 0.01 3 18 3 0.008 3 0 0 0 0 Benign 13.78 94305 chr11 30925128 30925128 A G rs530429849 DCDC1 Nonsynonymous SNV W578R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.1 94306 chr11 31115683 31115683 T G rs376049865 DCDC1 Nonsynonymous SNV S678R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.585 94307 chr1 64608211 64608211 G A rs141411649 ROR1 Nonsynonymous SNV R351H 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 24.5 94308 chr1 209605596 209605596 G A MIR205HG 0.004 0 0 3 5 0 0.008 0 0 0 0 0 7.278 94309 chr1 65157074 65157074 G T rs144669889 CACHD1 Nonsynonymous SNV G923W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 94310 chr1 169565287 169565287 C T rs200871011 SELP Synonymous SNV P659P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 94311 chr11 33565362 33565362 C T rs368585647 KIAA1549L Synonymous SNV A751A 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 16.29 94312 chr11 45950259 45950259 C T rs2271851 LARGE2 Nonsynonymous SNV R677C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 94313 chr1 41285863 41285863 G A rs137896524 KCNQ4 Synonymous SNV L324L 0.004 0.008 0 2 5 3 0.005 0 0 1 0 0 Benign 12.58 94314 chr1 65851423 65851423 G A rs146050826 DNAJC6 Nonsynonymous SNV A277T 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 19.44 94315 chr1 67895727 67895727 A G rs139740342 SERBP1 Nonsynonymous SNV V86A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.66 94316 chr11 35211477 35211477 G A rs148181116 CD44 Nonsynonymous SNV V178M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 4.79 94317 chr1 76363699 76363699 A C rs114139185 MSH4 Synonymous SNV S821S 0.005 0.013 0.017 3 6 5 0.008 5 0 0 0 0 2.591 94318 chr1 76363756 76363756 G C rs114093703 MSH4 Nonsynonymous SNV E840D 0.004 0.013 0.007 3 5 5 0.008 2 0 0 0 0 17.23 94319 chr1 70385100 70385100 C G rs932545281 PIN1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.783 94320 chr1 67292613 67292613 A G rs150993208 WDR78 Synonymous SNV F743F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.012 94321 chr20 37518260 37518260 G A rs35388334 PPP1R16B Synonymous SNV K91K 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 12.38 94322 chr20 279185 279185 C T rs45569040 ZCCHC3 Synonymous SNV L320L 0.006 0.003 0.017 1 7 1 0.003 5 0 0 0 0 12.56 94323 chr20 40710643 40710643 C T rs151076965 PTPRT Nonsynonymous SNV R1384H 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 35 94324 chr20 40877358 40877358 G C rs143630572 PTPRT Nonsynonymous SNV L761V 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 23.7 94325 chr1 198685878 198685878 G A rs776904542 PTPRC Synonymous SNV T292T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.385 94326 chr1 43649334 43649334 G T rs6663799 CFAP57 Nonsynonymous SNV A183S 0.014 0.026 0.003 4 17 10 0.01 1 0 0 0 1 0.001 94327 chr1 214815304 214815304 C T rs114717799 CENPF Nonsynonymous SNV A1208V 0.007 0.013 0.003 6 8 5 0.015 1 0 0 0 0 Benign 0.056 94328 chr20 30408207 30408207 C T rs750548324 MYLK2 Nonsynonymous SNV P111S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.029 94329 chr1 7845585 7845585 C T rs200589634 PER3 Synonymous SNV R71R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 94330 chr1 17402287 17402287 G A rs138940135 PADI2 Nonsynonymous SNV R448C 0.005 0 0 0 6 0 0 0 0 0 0 0 23.9 94331 chr1 44134887 44134887 T C rs143990622 KDM4A Nonsynonymous SNV M427T 0.007 0 0.01 0 8 0 0 3 0 0 0 0 11.88 94332 chr11 47199957 47199957 G A rs199648318 PACSIN3 Synonymous SNV D373D 0 0 0 2 0 0 0.005 0 0 0 0 0 4.427 94333 chr1 78097993 78097993 G A rs146140872 ZZZ3 Synonymous SNV S349S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.086 94334 chr1 45266571 45266571 C T rs148986415 PLK3 Synonymous SNV V90V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.22 94335 chr20 44035178 44035178 G C DBNDD2 Nonsynonymous SNV E29D 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 13.21 94336 chr1 45553712 45553712 G A rs116809634 ZSWIM5 Nonsynonymous SNV R265C 0.006 0 0.01 0 7 0 0 3 0 0 0 0 26.9 94337 chr11 48347082 48347082 A G rs148047717 OR4C3 Nonsynonymous SNV N170S 0.042 0.034 0.014 15 49 13 0.038 4 0 0 0 0 22.8 94338 chr1 85655902 85655902 C T rs200884011 SYDE2 Nonsynonymous SNV E427K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.27 94339 chr1 45974478 45974478 G C rs140522266 MMACHC Nonsynonymous SNV G90A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 27.3 94340 chr20 44598297 44598297 G T rs768996558 ZNF335 Nonsynonymous SNV P79T 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 10.78 94341 chr20 3297396 3297396 C T rs188316713 C20orf194 Nonsynonymous SNV A505T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 94342 chr20 46264336 46264336 C G rs373015839 NCOA3 Synonymous SNV L461L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.839 94343 chr20 330408 330408 C G rs11556643 NRSN2 Nonsynonymous SNV L41V 0.037 0.047 0.041 8 43 18 0.021 12 1 0 0 0 20.7 94344 chr1 47280830 47280830 A G rs45467195 CYP4B1 Nonsynonymous SNV S160G 0.009 0.013 0.02 3 10 5 0.008 6 0 0 0 0 24.8 94345 chr1 179623450 179623450 C G TDRD5 Nonsynonymous SNV P759A 0.005 0.013 0 0 6 5 0 0 0 0 0 0 7.305 94346 chr20 34089756 34089756 G A rs769794651 CEP250 Nonsynonymous SNV R696H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 94347 chr1 22211856 22211856 G A rs145101074 HSPG2 Synonymous SNV D389D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 11.77 94348 chr20 49197873 49197873 C T rs16995309 PTPN1 Nonsynonymous SNV P314L 0.009 0.013 0.003 12 11 5 0.031 1 0 0 0 0 9.323 94349 chr1 91406141 91406141 G A rs765130316 ZNF644 Nonsynonymous SNV T257I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.8 94350 chr1 183093917 183093917 G A rs61751707 LAMC1 Synonymous SNV K851K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.05 94351 chr11 55110685 55110685 A G rs76977601 OR4A16 Synonymous SNV P3P 0.052 0.039 0 13 61 15 0.033 0 0 0 0 0 0.011 94352 chr11 55110688 55110688 C T rs79878073 OR4A16 Synonymous SNV S4S 0.052 0.039 0 13 61 15 0.033 0 0 0 0 0 2.885 94353 chr11 55110690 55110690 G A rs79323751 OR4A16 Nonsynonymous SNV S5N 0.053 0.039 0 13 62 15 0.033 0 0 0 0 0 0.001 94354 chr11 55110715 55110715 G A rs77981146 OR4A16 Synonymous SNV L13L 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 0.025 94355 chr1 54605318 54605318 - GGG rs76608277 CDCP2 P408_M409insP 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 94356 chr11 55110727 55110727 A G rs75059670 OR4A16 Synonymous SNV Q17Q 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 0.028 94357 chr11 55110739 55110739 G A rs78513473 OR4A16 Synonymous SNV V21V 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 0.878 94358 chr11 55110740 55110740 A C rs77509752 OR4A16 Nonsynonymous SNV K22Q 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 0.001 94359 chr11 55110761 55110761 T G rs76944329 OR4A16 Nonsynonymous SNV F29V 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 9.447 94360 chr11 55110804 55110804 T C rs202202418 OR4A16 Nonsynonymous SNV I43T 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 8.421 94361 chr20 37255691 37255691 G C rs200985539 ARHGAP40 Nonsynonymous SNV G130R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.4 94362 chr1 89729567 89729567 C - rs556565480 GBP5 C405Sfs*12 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 94363 chr11 55110806 55110806 T G rs200076303 OR4A16 Nonsynonymous SNV W44G 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 0.405 94364 chr11 55110817 55110817 T C rs201128700 OR4A16 Synonymous SNV T47T 0.055 0.039 0 13 65 15 0.033 0 0 0 0 0 0.099 94365 chr11 55110843 55110843 T C rs199644874 OR4A16 Nonsynonymous SNV L56P 0.056 0.039 0 13 66 15 0.033 0 0 0 0 0 0.015 94366 chr11 55110845 55110845 A G rs200889979 OR4A16 Nonsynonymous SNV M57V 0.056 0.039 0.003 13 66 15 0.033 1 0 0 0 0 12.06 94367 chr11 55110861 55110861 C A rs200705953 OR4A16 Nonsynonymous SNV A62D 0.056 0.039 0.01 13 66 15 0.033 3 0 0 0 0 23.7 94368 chr11 55110865 55110865 C T rs187469362 OR4A16 Synonymous SNV Y63Y 0.056 0.039 0.01 13 66 15 0.033 3 0 0 0 0 0.422 94369 chr11 55110877 55110877 G A rs200261293 OR4A16 Nonsynonymous SNV M67I 0.056 0.039 0.014 13 66 15 0.033 4 0 0 0 0 0.002 94370 chr11 55110903 55110903 C A rs116924453 OR4A16 Stop gain S76X 0.056 0.039 0.017 13 66 15 0.033 5 0 0 0 0 24.5 94371 chr1 225609857 225609857 T C rs201694077 LBR Synonymous SNV R96R 0.003 0 0 5 3 0 0.013 0 0 0 0 0 7.959 94372 chr11 55110918 55110918 T C rs147641414 OR4A16 Nonsynonymous SNV I81T 0.056 0.039 0.017 13 66 15 0.033 5 0 0 0 0 0.011 94373 chr1 95699829 95699829 A G rs142820652 RWDD3 Nonsynonymous SNV I15V 0.009 0.016 0.01 6 11 6 0.015 3 0 0 0 0 23.2 94374 chr11 55110928 55110928 C A rs150328499 OR4A16 Synonymous SNV L84L 0.056 0.039 0.02 13 66 15 0.033 6 0 0 0 0 9.019 94375 chr11 55110930 55110930 G T rs142852989 OR4A16 Nonsynonymous SNV C85F 0.056 0.039 0.02 13 66 15 0.033 6 0 0 0 0 0.02 94376 chr11 55110934 55110934 T A rs142253044 OR4A16 Nonsynonymous SNV D86E 0.056 0.039 0.024 13 66 15 0.033 7 0 0 0 0 0.001 94377 chr11 55110941 55110941 G A rs147336887 OR4A16 Nonsynonymous SNV A89T 0.056 0.039 0.024 13 66 15 0.033 7 0 0 0 0 0.102 94378 chr20 39978947 39978947 G A rs756113271 LPIN3 Nonsynonymous SNV G339S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.009 94379 chr11 55111013 55111013 T C rs74777917 OR4A16 Synonymous SNV L113L 0.056 0.039 0.024 13 66 15 0.033 7 0 0 0 0 0.009 94380 chr11 55111045 55111045 T C rs79540892 OR4A16 Synonymous SNV A123A 0.056 0.039 0.024 13 66 15 0.033 7 0 0 0 0 4.128 94381 chr11 55111057 55111057 G A rs76791457 OR4A16 Synonymous SNV P127P 0.056 0.039 0.027 13 66 15 0.033 8 0 0 0 0 7.722 94382 chr11 55111071 55111071 A C rs76072904 OR4A16 Nonsynonymous SNV N132T 0.056 0.039 0.027 13 66 15 0.033 8 0 0 0 0 0.002 94383 chr11 55111072 55111072 C T rs76425968 OR4A16 Synonymous SNV N132N 0.055 0.039 0.027 13 65 15 0.033 8 0 0 0 0 7.941 94384 chr11 55111086 55111086 T A rs78354885 OR4A16 Nonsynonymous SNV L137Q 0.056 0.039 0.027 13 66 15 0.033 8 0 0 0 0 0.002 94385 chr20 57045721 57045721 T G APCDD1L Nonsynonymous SNV R44S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.872 94386 chr11 55111115 55111115 A G rs78540024 OR4A16 Nonsynonymous SNV M147V 0.056 0.039 0.02 13 66 15 0.033 6 0 0 0 0 0.001 94387 chr11 55111118 55111118 A G rs77255270 OR4A16 Nonsynonymous SNV I148V 0.056 0.039 0.02 13 66 15 0.033 6 0 0 0 0 0.001 94388 chr11 55111157 55111157 C G rs75280282 OR4A16 Nonsynonymous SNV L161V 0.055 0.039 0.014 13 64 15 0.033 4 0 0 0 0 0.001 94389 chr11 55111172 55111172 A T rs80108485 OR4A16 Nonsynonymous SNV I166F 0.05 0.039 0.017 11 59 15 0.028 5 0 0 0 0 0.006 94390 chr11 55111189 55111189 T C rs77880899 OR4A16 Synonymous SNV V171V 0.033 0.031 0.017 9 39 12 0.023 5 0 0 0 0 0.119 94391 chr20 57429775 57429775 C A rs55890501 GNAS Nonsynonymous SNV P423H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 13.16 94392 chr11 55111200 55111200 C T rs75654702 OR4A16 Nonsynonymous SNV S175F 0.022 0.021 0.017 4 26 8 0.01 5 0 0 0 0 0.024 94393 chr11 55111222 55111222 G A rs7121804 OR4A16 Synonymous SNV L182L 0.056 0.044 0.031 13 66 17 0.033 9 0 2 0 0 3.34 94394 chr11 55111225 55111225 G A rs78991953 OR4A16 Synonymous SNV L183L 0.008 0.003 0.007 3 9 1 0.008 2 0 0 0 0 1.135 94395 chr11 55111232 55111233 TT - rs771483821 OR4A16 L186Vfs*3 0.055 0.036 0.003 12 65 14 0.031 1 0 0 0 0 94396 chr11 55111234 55111234 - CA rs746257788 OR4A16 Frameshift insertion C187Hfs*8 0.055 0.036 0.01 12 64 14 0.031 3 0 0 0 0 94397 chr11 55111284 55111284 T C rs149774017 OR4A16 Nonsynonymous SNV I203T 0.021 0.01 0 4 25 4 0.01 0 0 0 0 0 0.004 94398 chr11 55111293 55111293 T C rs78534550 OR4A16 Nonsynonymous SNV M206T 0.028 0.016 0 8 33 6 0.021 0 0 0 0 0 0.001 94399 chr11 55111298 55111298 A G rs79376849 OR4A16 Nonsynonymous SNV I208V 0.033 0.021 0 8 39 8 0.021 0 0 0 0 0 0.001 94400 chr11 55111313 55111313 C T rs200720954 OR4A16 Synonymous SNV L213L 0.045 0.029 0 11 53 11 0.028 0 0 0 0 0 1.458 94401 chr11 55111328 55111328 G A rs749923481 OR4A16 Nonsynonymous SNV V218I 0.045 0.039 0 11 53 15 0.028 0 0 0 0 0 0.003 94402 chr1 207083200 207083200 C A FCMR Nonsynonymous SNV G242C 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.58 94403 chr11 55111341 55111341 T C rs766122369 OR4A16 Nonsynonymous SNV F222S 0.043 0.031 0 11 51 12 0.028 0 0 0 0 0 0.002 94404 chr11 55111354 55111354 C T rs75076309 OR4A16 Synonymous SNV Y226Y 0.038 0.029 0 10 45 11 0.026 0 0 0 0 0 0.068 94405 chr11 55322099 55322099 C A rs17496724 OR4C15 Nonsynonymous SNV A52D 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 24 94406 chr11 55322422 55322422 C A rs74331841 OR4C15 Nonsynonymous SNV L160I 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 6.291 94407 chr11 55322464 55322464 A C rs61919569 OR4C15 Nonsynonymous SNV N174H 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 9.25 94408 chr11 55322490 55322490 G A rs61919570 OR4C15 Synonymous SNV P182P 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 5.897 94409 chr11 55322606 55322606 T C rs17581700 OR4C15 Nonsynonymous SNV L221S 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 23.9 94410 chr11 55339704 55339704 T G rs78612916 OR4C16 Nonsynonymous SNV L34W 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 22.1 94411 chr20 13695557 13695558 CT - rs534749610 ESF1 E840Afs*21 0.008 0.013 0.003 3 9 5 0.008 1 0 0 0 0 94412 chr11 55339712 55339712 C T rs75881957 OR4C16 Synonymous SNV L37L 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 8.189 94413 chr11 55339740 55339740 G C rs80210585 OR4C16 Nonsynonymous SNV S46T 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 0.001 94414 chr1 99470117 99470117 G T rs144194271 PLPPR5 Synonymous SNV T37T 0.017 0.005 0.037 3 20 2 0.008 11 0 0 1 0 17.2 94415 chr11 55340170 55340170 A C rs61916568 OR4C16 Nonsynonymous SNV E189D 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 0.001 94416 chr20 13846148 13846148 C T rs146654307 SEL1L2 Nonsynonymous SNV V473I 0.008 0.013 0.007 2 9 5 0.005 2 0 0 0 0 16.77 94417 chr11 55340466 55340466 A G rs56111016 OR4C16 Nonsynonymous SNV K288R 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 0.002 94418 chr11 55371132 55371132 A T rs7114415 OR4C11 Nonsynonymous SNV S240T 0.069 0.049 0.037 18 81 19 0.046 11 16 4 2 5 10.52 94419 chr11 55371828 55371828 G T rs491160 OR4C11 Nonsynonymous SNV P8T 0.07 0.049 0.034 18 82 19 0.046 10 16 4 2 5 0.002 94420 chr11 55406249 55406249 G A OR4P4 Nonsynonymous SNV C139Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 94421 chr11 55406524 55406524 C T rs61896975 OR4P4 Nonsynonymous SNV R231C 0.069 0.049 0.037 18 81 19 0.046 11 16 4 2 5 20.9 94422 chr11 55418963 55418963 T G rs7949664 OR4S2 Nonsynonymous SNV V195G 0.069 0.049 0.037 18 81 19 0.046 11 16 4 2 5 10.14 94423 chr11 55541509 55541509 G A rs146084338 OR5D13 Nonsynonymous SNV R199K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.313 94424 chr1 62550230 62550230 C T rs17123051 PATJ Synonymous SNV P1429P 0.016 0.013 0.02 9 19 5 0.023 6 0 0 1 0 14.02 94425 chr20 60511971 60511971 G A rs374087046 CDH4 Synonymous SNV A870A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 94426 chr20 13145470 13145470 C T rs371553499 SPTLC3 Nonsynonymous SNV R539C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 94427 chr11 55541620 55541620 G T rs7124871 OR5D13 Nonsynonymous SNV R236L 0.055 0.044 0.02 13 65 17 0.033 6 0 2 0 0 12.39 94428 chr1 19566408 19566408 A C rs143222669 EMC1 Synonymous SNV A264A 0.009 0.021 0.007 2 10 8 0.005 2 0 0 0 0 Benign 5.13 94429 chr20 45131302 45131302 T A ZNF334 Nonsynonymous SNV T188S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 94430 chr20 1352788 1352788 C T rs146341033 FKBP1A Nonsynonymous SNV R61H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 94431 chr11 55563761 55563761 G A rs61896309 OR5D14 Nonsynonymous SNV A244T 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 14.53 94432 chr11 55563846 55563846 C A rs61896310 OR5D14 Nonsynonymous SNV T272K 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 14.54 94433 chr1 19638583 19638583 G T rs115704389 AKR7A2 Synonymous SNV A12A 0.018 0.018 0.007 11 21 7 0.028 2 0 0 0 0 10.94 94434 chr20 13830867 13830867 C T rs201001973 SEL1L2 Synonymous SNV T395T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 12.12 94435 chr11 55587212 55587212 A G rs7948629 OR5D18 Nonsynonymous SNV Y36C 0.055 0.044 0.031 13 65 17 0.033 9 0 2 0 0 23.3 94436 chr20 60891986 60891986 G A rs41296211 LAMA5 Synonymous SNV A2535A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.87 94437 chr1 214814357 214814357 T G rs755567779 CENPF Synonymous SNV T892T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.314 94438 chr20 4850575 4850575 G A rs753268935 SLC23A2 Synonymous SNV P409P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.619 94439 chr20 17950772 17950772 A G rs73107120 MGME1 Synonymous SNV Q90Q 0.021 0.029 0.024 12 25 11 0.031 7 0 0 0 0 Benign 0.019 94440 chr20 61467842 61467842 A G rs140686800 COL9A3 Nonsynonymous SNV S521G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.8 94441 chr20 61542218 61542218 C G rs767253826 DIDO1 Nonsynonymous SNV E249D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.067 94442 chr20 5550862 5550862 G A rs61739696 GPCPD1 Synonymous SNV D360D 0.008 0.008 0 1 9 3 0.003 0 1 0 0 0 12.3 94443 chr20 62173812 62173812 C A rs768410514 SRMS Synonymous SNV A256A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.38 94444 chr1 222732051 222732051 C T rs143557200 TAF1A Nonsynonymous SNV R321Q 0.008 0 0 5 9 0 0.013 0 0 0 0 0 Likely benign 17.83 94445 chr20 62329984 62329984 A G RTEL1-TNFRSF6B 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.093 94446 chr1 78098028 78098028 C T rs749565657 ZZZ3 Nonsynonymous SNV E338K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 94447 chr1 203682326 203682326 A G ATP2B4 Nonsynonymous SNV K749E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 94448 chr20 62608720 62608720 T G rs145097158 SAMD10 Nonsynonymous SNV H44P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.4 94449 chr11 56143426 56143426 A G rs79710312 OR8U1, OR8U8 Nonsynonymous SNV I109M 0.022 0.018 0 3 26 7 0.008 0 0 0 0 0 0.001 94450 chr20 62737344 62737344 C G rs528646694 NPBWR2 Nonsynonymous SNV V281L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.008 94451 chr11 56143427 56143427 T G rs75978130 OR8U1, OR8U8 Nonsynonymous SNV S110A 0.02 0.018 0 3 24 7 0.008 0 0 0 0 0 0.001 94452 chr11 56143429 56143429 A T rs77752610 OR8U1, OR8U8 Synonymous SNV S110S 0.019 0.016 0 3 22 6 0.008 0 0 0 0 0 0.001 94453 chr1 225305681 225305681 G A rs74147113 DNAH14 Synonymous SNV G1357G 0.007 0.008 0.014 3 8 3 0.008 4 0 0 0 1 11.38 94454 chr1 79383677 79383677 C T ADGRL4 Stop gain W507X 0.003 0 0 0 3 0 0 0 0 0 0 0 44 94455 chr1 225603029 225603029 T C rs61749339 LBR Synonymous SNV V281V 0.015 0.023 0.007 11 18 9 0.028 2 1 0 0 0 Benign 9.751 94456 chr20 3102343 3102343 C T rs144291399 UBOX5 Synonymous SNV P314P 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 13.9 94457 chr20 61637791 61637791 - CGCGGCCGCCGCCG BHLHE23 Frameshift insertion E113Gfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 94458 chr20 33588185 33588185 A T rs61746253 MYH7B Nonsynonymous SNV K1666M 0.014 0.008 0.007 3 16 3 0.008 2 0 1 0 0 Likely benign 28.2 94459 chr20 2730515 2730515 G A EBF4 Nonsynonymous SNV R301Q 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 27.4 94460 chr20 278248 278248 G A ZCCHC3 Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.8 94461 chr20 29891201 29891201 C T rs56076812 DEFB116 Synonymous SNV E41E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.49 94462 chr1 87170606 87170606 G A rs150324653 SH3GLB1 Synonymous SNV V8V 0.007 0 0.007 0 8 0 0 2 0 0 0 0 13.68 94463 chr20 34152782 34152782 C T rs2277862 FER1L4 0 0 0.211 0 0 0 0 62 0 0 5 0 5.84 94464 chr11 56230010 56230010 G T rs145474756 OR5M9 Nonsynonymous SNV L290M 0.009 0.008 0.01 2 10 3 0.005 3 0 0 0 0 22.9 94465 chr20 34187552 34187552 C T rs73275433 FER1L4 0 0 0.146 0 0 0 0 43 0 0 3 0 14.66 94466 chr20 34190077 34190077 G A rs6119630 FER1L4 0 0 0.146 0 0 0 0 43 0 0 3 0 15.36 94467 chr1 207133093 207133093 T C rs151021758 FCAMR Nonsynonymous SNV T502A 0.015 0.013 0.024 6 18 5 0.015 7 0 0 0 0 10.52 94468 chr20 34240741 34240746 GGGCCG - rs773079370 RBM12 G836_P837del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 94469 chr20 35128861 35128861 T A rs139293905 DLGAP4 Nonsynonymous SNV S80T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.235 94470 chr11 56237599 56237599 C T rs542569968 OR5M3 Synonymous SNV G125G 0.008 0.008 0 3 9 3 0.008 0 1 0 0 0 0.853 94471 chr11 56237605 56237607 TGC - rs781546479 OR5M3 A123del 0.014 0.016 0.003 3 17 6 0.008 1 1 1 0 0 94472 chr20 62119678 62119678 C T EEF1A2 Synonymous SNV A455A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 94473 chr11 58170054 58170054 T G OR5B3 Nonsynonymous SNV T277P 0 0 0 2 0 0 0.005 0 0 0 0 0 18.32 94474 chr1 89637476 89637476 C T GBP7 Nonsynonymous SNV R48H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 94475 chr1 247592912 247592912 A G rs147946775 NLRP3 Nonsynonymous SNV S726G 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.53 94476 chr20 32333072 32333072 G A rs201037697 ZNF341 Synonymous SNV A102A 0 0.01 0 0 0 4 0 0 0 0 0 0 1.817 94477 chr21 31803054 31803054 G A rs999597 KRTAP13-4 Nonsynonymous SNV R154H 0.014 0.018 0.02 10 16 7 0.026 6 0 0 0 0 17.26 94478 chr20 36846718 36846718 G A rs143492907 KIAA1755 Synonymous SNV T520T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 2.433 94479 chr20 33225726 33225726 G A rs781451334 PIGU Nonsynonymous SNV R128W 0.006 0.01 0 0 7 4 0 0 0 0 0 0 27.6 94480 chr21 31852425 31852451 TAGCCTCCAAAGCCAGAGCCATATCCG - rs749798353 KRTAP19-1 S66_G74del 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 94481 chr20 3356890 3356890 G A rs574872776 C20orf194 Nonsynonymous SNV R115C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.4 94482 chr1 210411452 210411452 A T rs139241213 SERTAD4 Synonymous SNV G49G 0.007 0.005 0.01 9 8 2 0.023 3 0 0 0 0 0.351 94483 chr20 33584162 33584162 C T rs780035845 MYH7B Nonsynonymous SNV T1028M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.7 94484 chr20 3726565 3726565 C T rs6076550 HSPA12B Synonymous SNV L102L 0.037 0.034 0.031 13 43 13 0.033 9 0 0 0 0 12.09 94485 chr1 229567282 229567282 C T ACTA1 Synonymous SNV E366E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 94486 chr1 231830012 231830012 C T rs186593988 DISC1 Nonsynonymous SNV R170C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 22 94487 chr20 62701626 62701626 C T rs150195372 TCEA2 Synonymous SNV D177D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.3 94488 chr20 39831755 39831755 T C rs766602408 ZHX3 Nonsynonymous SNV K601R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 94489 chr20 39974467 39974467 G A rs61730992 LPIN3 Synonymous SNV A8A 0.007 0.01 0.014 6 8 4 0.015 4 0 0 0 0 7.435 94490 chr1 213414479 213414479 C T rs200113819 RPS6KC1 Nonsynonymous SNV L89F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 94491 chr20 4162978 4162978 C T rs17220872 SMOX Synonymous SNV G284G 0.02 0.013 0.024 9 24 5 0.023 7 0 0 1 0 9.674 94492 chr11 56756399 56756399 G T rs10896563 OR5AK2 Nonsynonymous SNV G4V 0.026 0.031 0.014 10 30 12 0.026 4 0 0 0 0 4.363 94493 chr11 57080665 57080665 G A rs778587328 TNKS1BP1 Synonymous SNV P499P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.71 94494 chr21 35497737 35497737 C T rs768363157 MRPS6 Nonsynonymous SNV P48S 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 23.8 94495 chr20 42694446 42694446 T C rs147443888 TOX2 Nonsynonymous SNV L334P 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 24.4 94496 chr21 38309112 38309112 C T rs116985497 HLCS Synonymous SNV T358T 0.012 0.016 0.01 10 14 6 0.026 3 0 0 0 1 Conflicting interpretations of pathogenicity 11.71 94497 chr1 236730157 236730157 A G rs115684254 HEATR1 Nonsynonymous SNV I1366T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.002 94498 chr21 40550555 40550555 T C PSMG1 Nonsynonymous SNV R138G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 94499 chr20 45003054 45003054 T C ELMO2 Nonsynonymous SNV E399G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 94500 chr20 45092517 45092517 T C rs279730 MKRN7P 0 0 0.014 0 0 0 0 4 0 0 1 0 0.693 94501 chr20 45093330 45093330 - TTCT rs11474033 MKRN7P 0 0 0.027 0 0 0 0 8 0 0 4 0 94502 chr1 237054504 237054504 C T rs116836001 MTR Nonsynonymous SNV R976W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 94503 chr20 37394118 37394118 C T ACTR5 Nonsynonymous SNV S417L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 94504 chr1 22168092 22168092 G A rs767006310 HSPG2 Nonsynonymous SNV R3091C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 94505 chr1 22186713 22186713 G A rs138459752 HSPG2 Synonymous SNV Y1658Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.72 94506 chr1 983243 983243 C T rs142620337 AGRN Nonsynonymous SNV P1240L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Likely benign 28.8 94507 chr1 22198822 22198822 T C rs145185113 HSPG2 Nonsynonymous SNV N1361D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.6 94508 chr11 58979591 58979591 A T rs984562259 MPEG1 Nonsynonymous SNV F250I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 94509 chr1 22202856 22202856 T G rs62618730 HSPG2 Nonsynonymous SNV N958H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 15.42 94510 chr21 42540344 42540385 CCTGCCGAGCGCCACGCCGACGGCTTGGCGCTCGCCCTGGAG - BACE2 E54_A67del 0.003 0.003 0 5 3 1 0.013 0 0 0 0 1 94511 chr20 44144247 44144247 A G rs141764153 SPINT3 Star tloss M1? 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 7.738 94512 chr21 33355865 33355865 C T rs186264022 HUNK Synonymous SNV C400C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 94513 chr20 39990377 39990377 G C rs61739314 EMILIN3 Nonsynonymous SNV A611G 0.026 0.034 0.007 4 30 13 0.01 2 1 0 0 0 22.5 94514 chr11 62543398 62543398 C T rs144825291 TAF6L Nonsynonymous SNV T48M 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 23.4 94515 chr20 10639288 10639288 C T rs751230029 JAG1 Synonymous SNV T174T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.25 94516 chr20 49225223 49225223 G A rs1040802704 RIPOR3 Nonsynonymous SNV S246L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 94517 chr11 62677790 62677790 G A rs141441306 CHRM1 Synonymous SNV R261R 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 1.151 94518 chr20 40126048 40126048 G A rs41304645 CHD6 Synonymous SNV A356A 0.02 0.021 0.007 4 24 8 0.01 2 0 0 0 0 11.27 94519 chr20 42935802 42935802 G C rs147548991 FITM2 Synonymous SNV T84T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.014 94520 chr20 52773992 52773992 C T rs112596218 CYP24A1 Nonsynonymous SNV V457I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Uncertain significance 0.066 94521 chr20 44639169 44639169 C T rs746759681 MMP9 Nonsynonymous SNV A140V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.8 94522 chr21 34958343 34958343 C A rs147415181 DONSON Nonsynonymous SNV A183S 0.002 0 0 0 2 0 0 0 0 0 0 0 30 94523 chr21 34960684 34960684 C T rs771966526 DONSON Synonymous SNV R88R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.35 94524 chr20 56140439 56140439 G A rs41302559 PCK1 Nonsynonymous SNV R483Q 0.003 0.01 0.007 3 4 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 94525 chr20 57768692 57768692 C A rs369905161 ZNF831 Nonsynonymous SNV A873D 0 0 0.007 0 0 0 0 2 0 0 0 0 19.83 94526 chr21 37785365 37785365 G A rs376013076 CHAF1B Synonymous SNV P415P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.136 94527 chr20 47990100 47990100 G A rs201212125 KCNB1 Nonsynonymous SNV P666L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.9 94528 chr20 58470616 58470616 - GTGGTGGTTTAATTCTTCTTCTTC rs763773515 SYCP2 P513_L514insRRRRIKPP 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 94529 chr11 61106831 61106831 T C rs552874545 TKFC Nonsynonymous SNV I137T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 94530 chr21 39775468 39775468 G A rs17853963 ERG Synonymous SNV N92N 0.029 0.034 0.02 10 34 13 0.026 6 1 0 0 1 3.694 94531 chr11 62288342 62288342 C T rs143974724 AHNAK Nonsynonymous SNV S4516N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.6 94532 chr20 60718351 60718351 G A rs143498992 PSMA7 Synonymous SNV Y3Y 0.009 0.018 0.01 5 11 7 0.013 3 0 0 0 0 3.614 94533 chr20 46386028 46386028 G A rs200007986 SULF2 Nonsynonymous SNV S27L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.3 94534 chr11 62520486 62520486 G A rs1033770983 ZBTB3 Synonymous SNV V217V 0.003 0 0 0 4 0 0 0 0 0 0 0 8.062 94535 chr11 62554521 62554521 C G rs768347100 TAF6L Nonsynonymous SNV T541S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.579 94536 chr11 62554535 62554535 G A rs773977995 TAF6L Nonsynonymous SNV V546I 0.004 0 0 0 5 0 0 0 0 0 0 0 18.85 94537 chr20 60883433 60883433 A G ADRM1 Nonsynonymous SNV M303V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.98 94538 chr1 22828044 22828044 T C rs209752 ZBTB40 Synonymous SNV G297G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 1.222 94539 chr20 60885749 60885749 G A rs375051409 LAMA5 Nonsynonymous SNV P3473L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 94540 chr1 32936652 32936663 GCGGCGGCTGCA - rs908012542 ZBTB8B A150_A153del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 94541 chr11 64004987 64004987 C T rs764637591 VEGFB Nonsynonymous SNV T169I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.3 94542 chr1 22974153 22974153 C A rs773718895 C1QC Synonymous SNV G116G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 94543 chr1 33820732 33820732 G A PHC2 Nonsynonymous SNV R338W 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.6 94544 chr11 64051823 64051823 C T rs34882006 BAD Synonymous SNV E6E 0.014 0.026 0.027 5 17 10 0.013 8 1 0 0 0 17.37 94545 chr21 47531925 47531925 G A rs727502826 COL6A2 Nonsynonymous SNV V50M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 26 94546 chr11 64117106 64117106 C T rs144037797 CCDC88B Nonsynonymous SNV T943I 0.012 0.018 0.007 4 14 7 0.01 2 1 0 0 0 12.63 94547 chr1 34189888 34189888 G A rs61743144 CSMD2 Synonymous SNV G970G 0.02 0.023 0.01 10 23 9 0.026 3 0 1 0 0 12.51 94548 chr21 45217539 45217539 A G rs34224504 RRP1 Nonsynonymous SNV I194V 0.013 0.008 0.014 5 15 3 0.013 4 0 0 0 0 14.3 94549 chr1 248185963 248185963 G A rs775400726 OR2L5 Synonymous SNV S238S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 1.65 94550 chr1 34330137 34330137 C A rs61769874 HMGB4 Nonsynonymous SNV N41K 0.013 0.018 0.024 4 15 7 0.01 7 0 0 0 0 24.8 94551 chr20 61917399 61917399 C T rs750999004 ARFGAP1 Nonsynonymous SNV P301L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.26 94552 chr1 233152681 233152681 G A rs188866535 PCNX2 Nonsynonymous SNV R1609W 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 23.4 94553 chr20 61945445 61945445 A G rs369255661 COL20A1 Nonsynonymous SNV S794G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.725 94554 chr20 2464478 2464478 C T rs149935696 ZNF343 Nonsynonymous SNV G287S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.2 94555 chr1 233514945 233514945 A G rs754047500 MAP3K21 Synonymous SNV A731A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.343 94556 chr20 56234639 56234639 C T PMEPA1 Nonsynonymous SNV R47Q 0.01 0.008 0 1 12 3 0.003 0 1 0 0 0 35 94557 chr20 24646086 24646086 T C rs150020045 SYNDIG1 Synonymous SNV Y241Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.11 94558 chr21 45679399 45679399 C T rs147370440 DNMT3L Nonsynonymous SNV D89N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 94559 chr20 60885127 60885127 C T rs146292551 LAMA5 Nonsynonymous SNV R3582Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 18.54 94560 chr11 64810570 64810570 C T rs140942725 SAC3D1 Synonymous SNV A216A 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 3.794 94561 chr20 25656627 25656627 C G rs76985980 ZNF337 Nonsynonymous SNV V433L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.06 94562 chr1 3712848 3712848 C T rs565072797 LRRC47 Nonsynonymous SNV A65T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.8 94563 chr22 18299536 18299536 G A rs1048838166 MICAL3 Nonsynonymous SNV R1789C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 34 94564 chr11 67079286 67079286 C T rs61731781 SSH3 Synonymous SNV S636S 0.013 0.013 0.01 5 15 5 0.013 3 0 0 0 0 8.723 94565 chr20 30450489 30450489 G A rs145115468 DUSP15 Nonsynonymous SNV T4M 0.009 0.008 0 0 10 3 0 0 0 0 0 0 32 94566 chr20 30522508 30522508 C T rs200691468 TTLL9 Nonsynonymous SNV T176M 0.014 0.01 0 1 16 4 0.003 0 0 0 0 0 22.8 94567 chr20 60970034 60970034 C T rs149234266 CABLES2 Synonymous SNV A188A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 16.35 94568 chr21 46935658 46935658 G T rs922871423 SLC19A1 Nonsynonymous SNV P524T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 94569 chr11 65404405 65404405 C T PCNX3 Nonsynonymous SNV R2021C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.4 94570 chr1 25554663 25554663 C T rs34639798 SYF2 Nonsynonymous SNV A66T 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 26.2 94571 chr1 38288190 38288190 G A rs753942511 MTF1 Nonsynonymous SNV A457V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 20.5 94572 chr11 65425764 65425764 C T rs61759893 RELA Nonsynonymous SNV D288N 0.007 0.01 0.007 5 8 4 0.013 2 0 0 0 0 Benign 23.1 94573 chr20 644423 644423 C G rs201413966 SCRT2 Nonsynonymous SNV Q272H 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 23.5 94574 chr11 68207327 68207327 C T rs11574426 LRP5 Synonymous SNV H896H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign/Likely benign 18.33 94575 chr20 61288240 61288240 T C rs745390551 SLCO4A1 Nonsynonymous SNV I145T 0.006 0.008 0 0 7 3 0 0 0 0 0 0 24.6 94576 chr1 39852997 39852997 G A rs375379796 MACF1 Nonsynonymous SNV R2766Q 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 2.098 94577 chr21 47571884 47571884 G A rs374724805 FTCD Synonymous SNV Y126Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 0.314 94578 chr22 20784784 20784784 G C rs138330254 SCARF2 Nonsynonymous SNV D378E 0.003 0 0 0 4 0 0 0 0 0 0 0 0.758 94579 chr11 66032680 66032680 C T rs147513948 KLC2 Synonymous SNV S359S 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 18.47 94580 chr1 40705465 40705465 A G RLF Nonsynonymous SNV I1697M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 94581 chr1 27057660 27057660 A G rs541916863 ARID1A Synonymous SNV Q456Q 0.003 0 0 0 3 0 0 0 0 0 0 0 2.329 94582 chr11 66243458 66243458 G A rs200550810 PELI3 Synonymous SNV P303P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.515 94583 chr22 21989305 21989305 G A rs780501312 CCDC116 Nonsynonymous SNV S318N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.172 94584 chr11 66476403 66476403 G A rs74909073 SPTBN2 Synonymous SNV R387R 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.19 94585 chr21 27347536 27347536 G A rs148180403 APP Synonymous SNV F304F 0.005 0.013 0.007 1 6 5 0.003 2 0 0 0 0 Benign/Likely benign 11.19 94586 chr22 21998219 21998219 G A rs61739341 SDF2L1 Nonsynonymous SNV D141N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 94587 chr11 66512290 66512290 - GGCGGCGGCGGCGGCGGC C11orf80 A34_G35insAAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 94588 chr11 66581378 66581378 A G rs766514747 C11orf80 Nonsynonymous SNV T196A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.61 94589 chr11 66834232 66834232 C T rs149901958 RHOD Nonsynonymous SNV R82W 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 29.2 94590 chr11 67132804 67132804 G A rs78755659 CLCF1 Nonsynonymous SNV P151S 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 22.9 94591 chr1 29040799 29040799 A G rs16837667 GMEB1 Synonymous SNV P402P 0.01 0.005 0.01 4 12 2 0.01 3 0 0 0 0 0.24 94592 chr21 47858248 47858248 A G rs4818842 PCNT Nonsynonymous SNV S2894G 0.009 0 0.017 3 10 0 0.008 5 0 0 0 0 Benign 19.46 94593 chr11 67191859 67191859 G A rs61739507 CARNS1 Synonymous SNV E757E 0.01 0.003 0.01 3 12 1 0.008 3 0 0 0 0 2.424 94594 chr11 67257556 67257556 C T rs2276020 AIP Synonymous SNV D113D 0.012 0.005 0.014 2 14 2 0.005 4 0 0 0 0 Benign 14.1 94595 chr20 34797634 34797634 C T rs142447348 EPB41L1 Synonymous SNV S557S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.2 94596 chr20 35128819 35128819 G C DLGAP4 Nonsynonymous SNV E66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 94597 chr20 3542974 3542974 G T rs774874714 ATRN Nonsynonymous SNV G384V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.6 94598 chr21 31654809 31654809 C T rs77638540 KRTAP24-1 Nonsynonymous SNV G148S 0.04 0.029 0.065 17 47 11 0.044 19 3 0 0 0 16.65 94599 chr20 3641704 3641704 G A GFRA4 Synonymous SNV C93C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 94600 chr21 31744163 31744163 C G rs2009546 KRTAP13-2 Synonymous SNV G123G 0.039 0.029 0.065 19 46 11 0.049 19 3 0 0 0 10.58 94601 chr22 17684517 17684517 C T rs186116639 ADA2 Nonsynonymous SNV R110Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 4.073 94602 chr21 31768847 31768847 G A rs151147550 KRTAP13-1 Nonsynonymous SNV R148H 0.007 0.005 0.014 4 8 2 0.01 4 0 0 0 0 0.017 94603 chr20 36640870 36640870 C T rs36059660 TTI1 Nonsynonymous SNV R450H 0.014 0.005 0.027 5 17 2 0.013 8 0 0 0 0 12.35 94604 chr20 3672046 3672046 C T rs143489222 SIGLEC1 Nonsynonymous SNV C1511Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 94605 chr11 68030065 68030065 G A rs202000961 C11orf24 Nonsynonymous SNV P133L 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 6.002 94606 chr1 43897496 43897496 G A rs147797700 SZT2 Nonsynonymous SNV R1676H 0.008 0.003 0.007 7 9 1 0.018 2 0 0 0 0 Benign 33 94607 chr20 62198986 62198986 G T HELZ2 Synonymous SNV S6S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.396 94608 chr11 74547498 74547498 C T rs201098267 RNF169 Nonsynonymous SNV S617F 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 25.2 94609 chr21 32624062 32624062 C A rs774427389 TIAM1 Synonymous SNV L469L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 94610 chr22 25264353 25264353 C T rs61744681 SGSM1 Synonymous SNV G335G 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 16.85 94611 chr1 45793052 45793052 G A HPDL Nonsynonymous SNV A78T 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 27.1 94612 chr22 19808874 19808874 G A rs36070348 GNB1L Nonsynonymous SNV T2M 0.008 0.005 0.024 8 9 2 0.021 7 0 1 0 0 24.4 94613 chr20 62607179 62607179 G A rs113166910 SAMD10 Nonsynonymous SNV A151V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 94614 chr22 19961692 19961692 G C rs148872323 ARVCF Nonsynonymous SNV F677L 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Likely benign 23.9 94615 chr1 247654493 247654493 G T rs79802002 OR2W5 Stop gain G22X 0.004 0 0 0 5 0 0 0 0 0 0 0 0.337 94616 chr1 247751881 247751881 C G rs142325527 OR2G2 Nonsynonymous SNV R74G 0.043 0.031 0.02 14 50 12 0.036 6 1 0 0 0 22.9 94617 chr11 71725051 71725051 A T rs139820576 NUMA1 Synonymous SNV T1166T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 94618 chr20 9498856 9498856 A G rs146847874 LAMP5 Synonymous SNV S171S 0.011 0.013 0.003 3 13 5 0.008 1 0 0 0 0 7.968 94619 chr11 72084037 72084037 C T rs143097446 CLPB Nonsynonymous SNV S223N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 14.38 94620 chr11 77749753 77749753 G T NDUFC2-KCTD14 Nonsynonymous SNV P73H 0 0 0 2 0 0 0.005 0 0 0 0 0 1.961 94621 chr11 72353414 72353414 G A rs772166146 PDE2A Synonymous SNV L3L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.262 94622 chr22 29656837 29656837 G T rs142462633 RHBDD3 Nonsynonymous SNV F183L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.4 94623 chr1 247886505 247886505 G T rs62619785 OR14A2 Nonsynonymous SNV P281T 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 22.7 94624 chr11 73008349 73008349 C T rs60848410 P2RY6 Synonymous SNV Y363Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.2 94625 chr1 247902408 247902408 G T rs61731395 OR14K1 Synonymous SNV L164L 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 6.53 94626 chr22 29876272 29876272 G A rs192350983 NEFH Synonymous SNV A7A 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 Benign 16.53 94627 chr11 73073562 73073562 C T rs57661356 ARHGEF17 Synonymous SNV D1593D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.63 94628 chr1 247921509 247921509 G A rs116453035 OR1C1 Nonsynonymous SNV A67V 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 22.8 94629 chr22 30742328 30742328 C T rs141985009 SF3A1 Synonymous SNV Q122Q 0.003 0.005 0.014 4 3 2 0.01 4 0 0 0 0 13.37 94630 chr22 22328814 22328814 G A rs146303944 TOP3B Synonymous SNV H39H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 94631 chr21 31062246 31062246 C T rs142436130 GRIK1 Nonsynonymous SNV V60I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 94632 chr11 73759342 73759342 C T rs115658160 C2CD3 Synonymous SNV T1801T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.82 94633 chr11 85436830 85436830 T C rs367864234 SYTL2 Nonsynonymous SNV I1191V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 94634 chr11 74057797 74057797 T C rs148579414 PGM2L1 Synonymous SNV A339A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.18 94635 chr22 30866240 30866240 G A rs115083767 SEC14L3 Nonsynonymous SNV R45W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 94636 chr11 74556129 74556129 A G rs112814287 XRRA1 Nonsynonymous SNV I544T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.191 94637 chr22 30977044 30977044 A G PES1 Synonymous SNV P289P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.95 94638 chr1 248059717 248059717 T C rs375622528 OR2W3 Nonsynonymous SNV F277L 0.004 0 0 0 5 0 0 0 0 0 0 0 12.24 94639 chr11 74559303 74559303 C T rs114425568 XRRA1 Nonsynonymous SNV V434M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 94640 chr11 74617429 74617429 G A rs61747061 XRRA1 Synonymous SNV D45D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.703 94641 chr22 31492750 31492750 G A rs149563592 SMTN Synonymous SNV L687L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 12.04 94642 chr1 248112615 248112615 G A rs755129446 OR2L8 Synonymous SNV S152S 0.004 0 0 0 5 0 0 0 0 0 0 0 7.165 94643 chr1 40125077 40125077 T C rs115018094 NT5C1A Nonsynonymous SNV I275V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.5 94644 chr1 53676427 53676427 G A rs755500312 CPT2 Nonsynonymous SNV A361T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 7.482 94645 chr1 40315871 40315871 G A rs34889376 TRIT1 Nonsynonymous SNV T128M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 23 94646 chr21 31661506 31661506 T C KRTAP25-1 Synonymous SNV T101T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 94647 chr1 248202174 248202174 G C rs113312394 OR2L2 Nonsynonymous SNV S202T 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 94648 chr1 248202283 248202283 A G rs73141398 OR2L2 Synonymous SNV S238S 0.006 0 0 0 7 0 0 0 0 0 0 0 0.11 94649 chr1 248224155 248224155 A C OR2L3 Nonsynonymous SNV M58L 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 20.2 94650 chr1 54360116 54360116 G A rs779400511 DIO1 Nonsynonymous SNV R78H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 21.4 94651 chr21 43523430 43523430 G T rs8129075 UMODL1-AS1 0 0 0.031 0 0 0 0 9 0 0 4 0 0.563 94652 chr1 248309310 248309310 C T rs150067628 OR2M5 Synonymous SNV P287P 0.004 0 0 0 5 0 0 0 0 0 0 0 13.4 94653 chr21 43546588 43546588 C G rs373108386 UMODL1 Nonsynonymous SNV T1150S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 94654 chr11 77838442 77838442 T C rs778145721 ALG8 Nonsynonymous SNV I46V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 94655 chr1 248685122 248685122 A G rs58955396 OR2G6 Nonsynonymous SNV M59V 0.005 0 0 0 6 0 0 0 1 0 0 0 23 94656 chr1 42047370 42047370 C T rs41269475 HIVEP3 Synonymous SNV A1033A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.333 94657 chr1 248789626 248789626 G A rs540848694 OR2T11 Synonymous SNV D268D 0.004 0 0 0 5 0 0 0 0 0 0 0 0.757 94658 chr1 42049278 42049278 G A rs201683736 HIVEP3 Synonymous SNV S397S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.126 94659 chr1 248790109 248790110 AG - rs149866013 OR2T11 Stop gain S107* 0.009 0 0 5 11 0 0.013 0 0 0 0 1 94660 chr21 34012088 34012088 G A rs145937537 SYNJ1 Nonsynonymous SNV T1150M 0.009 0.016 0.003 3 11 6 0.008 1 0 0 0 0 Likely benign 0.614 94661 chr22 26902750 26902750 C T rs141028033 TFIP11 Synonymous SNV K87K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.05 94662 chr1 43308263 43308263 G A rs34441268 ERMAP Nonsynonymous SNV G263E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23 94663 chr1 25815676 25815676 C T rs139079663 MACO1 Synonymous SNV T276T 0.005 0 0.014 1 6 0 0.003 4 0 0 0 0 18.62 94664 chr21 38536500 38536500 A G TTC3 Synonymous SNV K384K 0.003 0.005 0 0 4 2 0 0 1 0 0 0 6.554 94665 chr22 37271714 37271714 C T rs146911421 NCF4 Nonsynonymous SNV T216M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 33 94666 chr1 44423170 44423170 C T IPO13 Nonsynonymous SNV R497W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 94667 chr1 44684084 44684084 C T rs138626857 DMAP1 Synonymous SNV R165R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 15.25 94668 chr1 45140038 45140038 G A rs146325802 TMEM53 Nonsynonymous SNV T9I 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 17.67 94669 chr11 92600298 92600298 G C FAT3 Nonsynonymous SNV G4017A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 94670 chr21 46353949 46353949 C G rs12483718 LINC01547 0 0 0.082 0 0 0 0 24 0 0 6 0 3.532 94671 chr21 46641967 46641967 A G rs1036082479 ADARB1 Nonsynonymous SNV K654R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 94672 chr1 45276025 45276025 C G rs191977029 BTBD19 Nonsynonymous SNV T76S 0.011 0.005 0.003 4 13 2 0.01 1 1 0 0 0 18.23 94673 chr1 27089555 27089555 C T rs149369381 ARID1A Synonymous SNV A837A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.51 94674 chr1 62739597 62739597 T C rs1042951135 KANK4 Synonymous SNV Q393Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.011 94675 chr11 93469892 93469892 G C rs34591613 TAF1D Nonsynonymous SNV L221V 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 1.077 94676 chr1 27332465 27332465 G A rs61737591 TENT5B Synonymous SNV H416H 0.017 0.003 0.014 1 20 1 0.003 4 0 0 0 0 0.013 94677 chr11 94038811 94038811 C G rs61742524 IZUMO1R Nonsynonymous SNV C3W 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 9.902 94678 chr1 63329777 63329777 G T rs144423131 ATG4C Nonsynonymous SNV D442Y 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 26.4 94679 chr11 94353244 94353244 C T rs201026049 PIWIL4 Synonymous SNV N792N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.192 94680 chr11 94592719 94592719 G C rs553703205 AMOTL1 Nonsynonymous SNV M608I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.103 94681 chr20 60886824 60886824 C T rs772088849 LAMA5 Nonsynonymous SNV D3218N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.5 94682 chr1 27695847 27695847 T G FCN3 Synonymous SNV R249R 0.003 0 0 0 3 0 0 0 0 0 0 0 5.097 94683 chr1 27709138 27709138 A G rs79961070 CD164L2 Synonymous SNV F36F 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 8.958 94684 chr11 94759534 94759534 C T rs553635056 KDM4E Synonymous SNV T271T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.874 94685 chr20 60889897 60889897 G A rs117652580 LAMA5 Synonymous SNV R2718R 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 8.16 94686 chr1 46726525 46726525 C T rs28363218 RAD54L Nonsynonymous SNV R22C 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 34 94687 chr21 47661158 47661158 C T rs17176926 MCM3AP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.634 94688 chr21 47661163 47661163 T C rs17183318 MCM3AP-AS1 0 0 0.027 0 0 0 0 8 0 0 2 0 1.456 94689 chr22 40054285 40054285 C T rs141359252 CACNA1I Synonymous SNV F672F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.75 94690 chr1 65157074 65157074 G A rs144669889 CACHD1 Nonsynonymous SNV G923R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.2 94691 chr1 6545410 6545410 C T rs554689677 PLEKHG5 Nonsynonymous SNV G32S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.67 94692 chr20 60904250 60904250 G C rs117065914 LAMA5 Synonymous SNV P1393P 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 8.665 94693 chr21 47754470 47754470 C T rs201176638 PCNT Nonsynonymous SNV R25C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.1 94694 chr21 44482421 44482421 C T rs771298943 CBS, CBSL Nonsynonymous SNV G242S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 33 94695 chr11 111784387 111784387 G T rs782166841 HSPB2 Nonsynonymous SNV R106L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29 94696 chr21 45511880 45511880 G T TRAPPC10 Nonsynonymous SNV G516C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.8 94697 chr1 67194953 67194953 C T rs375102916 SGIP1 Synonymous SNV I386I 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 14.62 94698 chr1 51810687 51810687 G A rs578133953 TTC39A Nonsynonymous SNV A10V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 94699 chr11 103055705 103055705 C T rs199675558 DYNC2H1 Synonymous SNV D2186D 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.33 94700 chr22 38061576 38061576 G T rs150938915 PDXP Nonsynonymous SNV A197S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.3 94701 chr1 53158503 53158503 C T rs12134752 COA7 Nonsynonymous SNV R48Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 22.4 94702 chr1 33248032 33248032 C T rs141323599 YARS1 Nonsynonymous SNV A339T 0.007 0.013 0.007 1 8 5 0.003 2 0 0 0 0 Benign 23 94703 chr20 61917442 61917442 A G rs199635124 ARFGAP1 Synonymous SNV E315E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 1.836 94704 chr11 113639594 113639594 A G ZW10 Synonymous SNV S67S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.454 94705 chr22 43024271 43024271 G C rs1800457 CYB5R3 Nonsynonymous SNV T117S 0.005 0 0.003 1 6 0 0.003 1 1 0 0 0 Benign 16.77 94706 chr21 44480591 44480591 G A rs117687681 CBS, CBSL Nonsynonymous SNV R264C 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 94707 chr22 43089410 43089411 AT - rs771507737 A4GALT M183Vfs*99 0.002 0 0 0 2 0 0 0 0 0 0 0 94708 chr22 43089591 43089591 A G rs114722809 A4GALT Nonsynonymous SNV S123P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.998 94709 chr22 43213266 43213266 T A rs75405504 ARFGAP3 Nonsynonymous SNV I272F 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 94710 chr1 76226855 76226855 C T rs138098371 ACADM Synonymous SNV L143L 0.007 0.005 0.007 6 8 2 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.66 94711 chr22 18604431 18604431 C T rs199826214 TUBA8 Synonymous SNV P63P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 94712 chr22 39134681 39134681 G A rs141013997 SUN2 Nonsynonymous SNV R641C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Likely benign 33 94713 chr11 108593749 108593749 C T rs755086724 DDX10 Nonsynonymous SNV R509C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 94714 chr1 7895966 7895966 C T rs35802556 PER3 Nonsynonymous SNV T1120I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 11.93 94715 chr22 19710818 19710818 C T rs757994209 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 94716 chr1 36772306 36772306 C G rs753133421 SH3D21 Nonsynonymous SNV R38G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 94717 chr22 41303615 41303615 A G rs138501598 XPNPEP3 Nonsynonymous SNV S273G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 94718 chr1 55194052 55194052 T C rs370882179 TTC4 Synonymous SNV L210L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 94719 chr11 113230704 113230704 A C rs142252122 TTC12 Nonsynonymous SNV N505H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.231 94720 chr11 113234603 113234603 G A rs34940277 TTC12 Synonymous SNV T565T 0.003 0 0 5 4 0 0.013 0 0 0 0 0 7.09 94721 chr22 42144219 42144219 C G rs757984668 MEI1 Nonsynonymous SNV L597V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 94722 chr22 42280889 42280889 G A rs112435452 SREBF2 Synonymous SNV A694A 0.015 0.01 0.024 2 18 4 0.005 7 0 0 0 0 10.13 94723 chr1 36939085 36939085 C T rs776543343 CSF3R Synonymous SNV A208A 0.003 0 0 0 3 0 0 0 0 0 0 0 17.6 94724 chr22 20937201 20937201 C T rs144351956 MED15 Nonsynonymous SNV A384V 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 32 94725 chr11 113270015 113270015 G T rs4938016 ANKK1 Nonsynonymous SNV G442C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 7.259 94726 chr11 113270478 113270478 C T rs7104979 ANKK1 Nonsynonymous SNV P596L 0.002 0 0.014 2 2 0 0.005 4 0 0 0 0 Benign 26 94727 chr22 45312345 45312345 C T rs8135982 PHF21B Nonsynonymous SNV G115S 0.052 0.065 0.071 22 61 25 0.056 21 2 2 0 0 14.1 94728 chr22 43520105 43520105 C T rs11090143 BIK Nonsynonymous SNV T26I 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 14.83 94729 chr22 43555285 43555285 C T rs187866832 TSPO Nonsynonymous SNV A14V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 8.816 94730 chr22 46136298 46136298 C T rs41279801 ATXN10 Synonymous SNV F287F 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 8.636 94731 chr11 119243547 119243547 G A rs770632472 USP2 Nonsynonymous SNV A215V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 6.538 94732 chr1 39854243 39854243 G A rs72661968 MACF1 Synonymous SNV A3181A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.143 94733 chr22 17600385 17600385 G T rs142754537 TMEM121B Nonsynonymous SNV P545T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.133 94734 chr21 47831186 47831186 G A rs61735808 PCNT Synonymous SNV K1615K 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.383 94735 chr22 24629912 24629912 G A rs116976546 GGT5 Synonymous SNV T78T 0.019 0.036 0.014 8 22 14 0.021 4 0 0 0 0 4.039 94736 chr21 47838207 47838207 T C rs138506849 PCNT Synonymous SNV D2219D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 0.043 94737 chr11 118403168 118403168 A C TMEM25 Nonsynonymous SNV N125T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 94738 chr1 64707395 64707395 A T rs138844744 UBE2U Nonsynonymous SNV H173L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.022 94739 chr22 20024525 20024525 C T rs183601770 TANGO2 Synonymous SNV H29H 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 Likely benign 13.63 94740 chr22 30189643 30189643 G A rs61736785 ASCC2 Nonsynonymous SNV R393W 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 27.4 94741 chr11 124005730 124005730 A T rs140282065 VWA5A Nonsynonymous SNV M450L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.6 94742 chr22 50944745 50944745 G A LMF2 Synonymous SNV T163T 0.003 0 0 0 4 0 0 0 0 0 0 0 11.99 94743 chr1 67833643 67833643 G A rs2307153 IL12RB2 Nonsynonymous SNV G465D 0.008 0.005 0.007 5 9 2 0.013 2 0 0 0 0 1.845 94744 chr1 70504270 70504270 A G rs145060243 LRRC7 Synonymous SNV E922E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 94745 chr22 20102107 20102107 G A rs1020877192 TRMT2A Nonsynonymous SNV A408V 0.002 0 0 0 2 0 0 0 0 0 0 0 33 94746 chr22 20229669 20229669 C T rs569528258 RTN4R Synonymous SNV P329P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.801 94747 chr22 50671828 50671828 C T rs751022706 TUBGCP6 Nonsynonymous SNV V345M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 94748 chr21 38459701 38459701 G A rs144396837 TTC3 Synonymous SNV V48V 0.011 0.01 0.01 2 13 4 0.005 3 0 0 0 0 16.66 94749 chr22 50721260 50721260 C T rs375999957 PLXNB2 Nonsynonymous SNV R956Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.155 94750 chr1 9324293 9324293 C T rs781605545 H6PD Nonsynonymous SNV R592C 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 27.5 94751 chr22 21332273 21332273 T C AIFM3 Nonsynonymous SNV W486R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 94752 chr22 50944491 50944491 G A rs141408392 LMF2 Synonymous SNV R224R 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 6.639 94753 chr22 22160301 22160301 T C rs150378600 MAPK1 Synonymous SNV T110T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.547 94754 chr22 22221708 22221708 - CCG rs770506771 MAPK1 A7_G8insA 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 94755 chr22 32667280 32667280 G C rs117089335 SLC5A4-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 7.454 94756 chr11 123865235 123865235 C T rs17128087 OR10G6 Nonsynonymous SNV D212N 0.01 0.01 0 7 12 4 0.018 0 0 0 0 0 22.9 94757 chr11 125322254 125322254 C G rs112732577 FEZ1 Nonsynonymous SNV E358Q 0.007 0.008 0.007 6 8 3 0.015 2 0 0 0 0 Benign 24.6 94758 chr22 51160049 51160049 C T rs757572910 SHANK3 Nonsynonymous SNV P1324L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 94759 chr11 125495737 125495737 T C rs112362212 CHEK1 Nonsynonymous SNV S28P 0.009 0.008 0.007 7 10 3 0.018 2 0 0 0 0 2.595 94760 chr22 24472173 24472173 C T rs58044582 CABIN1 Synonymous SNV H846H 0.01 0.003 0.01 0 12 1 0 3 0 0 0 0 16.27 94761 chr22 24581738 24581738 G A rs370335967 SUSD2 Nonsynonymous SNV A394T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.1 94762 chr22 24581995 24581995 G A rs115780132 SUSD2 Nonsynonymous SNV G451R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 34 94763 chr11 125787015 125787015 C T rs201774241 DDX25 Nonsynonymous SNV R189C 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 34 94764 chr22 23438569 23438569 C T rs17853740 GNAZ Synonymous SNV S229S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.14 94765 chr22 24985840 24985840 G T rs61737674 LRRC75B Synonymous SNV I85I 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 10.36 94766 chr2 100938165 100938165 C T rs560279181 LONRF2 Nonsynonymous SNV A131T 0.008 0.008 0 3 9 3 0.008 0 0 1 0 0 7.178 94767 chr22 24036686 24036686 A C GUSBP11 0.003 0 0 0 3 0 0 0 0 0 0 0 0.588 94768 chr2 101188227 101188227 C G rs143476375 PDCL3 Nonsynonymous SNV L182V 0.008 0.013 0.014 3 9 5 0.008 4 0 0 0 0 19.24 94769 chr1 85113229 85113229 A C rs1057746 SSX2IP Nonsynonymous SNV C551G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.556 94770 chr11 128350288 128350288 G A rs118149282 ETS1 Synonymous SNV R47R 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 Benign 10.38 94771 chr22 24494031 24494031 G A CABIN1 Synonymous SNV P1281P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.36 94772 chr1 53676085 53676085 A T CPT2 Nonsynonymous SNV R247W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 94773 chr1 86591563 86591563 T C rs77448813 COL24A1 Synonymous SNV A152A 0.009 0.008 0.003 0 10 3 0 1 0 0 0 0 0.09 94774 chr22 24629514 24629514 C T rs561007226 GGT5 Nonsynonymous SNV A118T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.324 94775 chr1 86622060 86622060 C T rs77549850 COL24A1 Nonsynonymous SNV R7K 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 23.1 94776 chr11 130343368 130343368 G A rs61757474 ADAMTS15 Synonymous SNV P835P 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 Benign 11.11 94777 chr2 112922588 112922588 G A rs34870326 FBLN7 Synonymous SNV P82P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.54 94778 chr22 25294118 25294118 A G rs374763880 SGSM1 Synonymous SNV T673T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 1.175 94779 chr22 29456796 29456796 A G rs41281609 C22orf31 Synonymous SNV P13P 0.008 0.026 0.014 3 9 10 0.008 4 0 0 0 1 1.056 94780 chr22 39035680 39035680 C T rs192591482 FAM227A Nonsynonymous SNV R92H 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 3.775 94781 chr11 126215438 126215438 G A rs73019443 DCPS Nonsynonymous SNV R322H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 94782 chr12 971317 971317 A G rs11833299 WNK1 Nonsynonymous SNV T674A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign/Likely benign 18.51 94783 chr22 40042831 40042831 G A rs200097208 CACNA1I Synonymous SNV P469P 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 8.053 94784 chr11 129743786 129743786 G A rs373757344 NFRKB Synonymous SNV L827L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.785 94785 chr12 1219375 1219375 T A rs36113377 ERC1 Synonymous SNV S393S 0.003 0.008 0.007 4 4 3 0.01 2 0 0 0 0 Benign 10.53 94786 chr22 30934826 30934826 G A rs748038979 SEC14L6 Nonsynonymous SNV R40C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 94787 chr22 28410329 28410329 C T rs756337436 TTC28 Synonymous SNV Q1375Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.91 94788 chr22 41652738 41652738 G A rs771897708 RANGAP1 Nonsynonymous SNV R289C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 94789 chr2 115219665 115219665 A G DPP10 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 4.922 94790 chr2 121746508 121746508 C T rs373880077 GLI2 Synonymous SNV G1006G 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 Benign/Likely benign 10.28 94791 chr22 43715962 43715962 G A rs141101679 SCUBE1 Synonymous SNV H110H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 94792 chr12 1919494 1919494 A G CACNA2D4 Nonsynonymous SNV F891L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.96 94793 chr22 32828474 32828474 C T rs374301481 BPIFC Synonymous SNV E345E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.238 94794 chr1 63064390 63064390 T C rs762640038 ANGPTL3 Synonymous SNV N173N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.015 94795 chr1 63789423 63789423 C A rs144838490 FOXD3 Synonymous SNV R232R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 94796 chr22 45132896 45132896 G A rs201958852 PRR5 Synonymous SNV A217A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.688 94797 chr22 36006971 36006971 G A rs147598364 MB Nonsynonymous SNV S93L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 94798 chr22 32330324 32330324 T - C22orf24 E155Gfs*29 0.003 0 0 0 3 0 0 0 0 0 0 0 94799 chr20 23065344 23065344 G A rs781274101 CD93 Nonsynonymous SNV R496C 0 0 0 4 0 0 0.01 0 0 0 0 0 14.82 94800 chr12 7249431 7249431 G A rs146147268 C1RL Synonymous SNV I298I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.48 94801 chr22 37271875 37271875 C T rs201021542 NCF4 Stop gain R270X 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Pathogenic 36 94802 chr22 48935077 48935077 A C rs73173405 LOC284933 0 0 0.01 0 0 0 0 3 0 0 0 0 14.58 94803 chr2 135625119 135625122 CTCT - rs576201626 CCNT2-AS1 0.015 0.01 0.024 4 18 4 0.01 7 0 0 0 0 94804 chr2 141092084 141092084 T G rs79879036 LRP1B Nonsynonymous SNV E4054A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 23.1 94805 chr22 37331402 37331402 T A CSF2RB Nonsynonymous SNV M442K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 94806 chr22 50686830 50686830 G A rs35820251 HDAC10 Synonymous SNV A306A 0.032 0.034 0.054 13 38 13 0.033 16 0 0 1 0 1.3 94807 chr22 38155506 38155506 C T rs146823511 TRIOBP Nonsynonymous SNV P423L 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Likely benign 2.451 94808 chr22 50687178 50687178 C T rs41283469 HDAC10 Synonymous SNV G253G 0.032 0.034 0.054 13 38 13 0.033 16 0 0 1 0 14.56 94809 chr22 50687595 50687595 A G rs75455741 HDAC10 Synonymous SNV V231V 0.032 0.029 0.058 13 38 11 0.033 17 0 0 1 0 0.919 94810 chr20 2774837 2774837 C G rs200588273 CPXM1 X661S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.098 94811 chr2 145157274 145157274 G A rs144952836 ZEB2 Nonsynonymous SNV P470S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 5.998 94812 chr22 50693889 50693889 G A rs2066770 MAPK12 Synonymous SNV S271S 0.024 0.034 0.044 12 28 13 0.031 13 0 0 1 0 6.064 94813 chr22 19808791 19808791 C T rs35178436 GNB1L Nonsynonymous SNV E30K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 0.055 94814 chr22 50695370 50695370 G A rs2072876 MAPK12 Synonymous SNV I150I 0.032 0.034 0.048 13 38 13 0.033 14 0 0 1 0 11.39 94815 chr1 70478657 70478657 A G LRRC7 Nonsynonymous SNV I380V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 94816 chr22 50721492 50721492 C T rs62621372 PLXNB2 Nonsynonymous SNV V935I 0.019 0.029 0.034 9 22 11 0.023 10 1 0 0 0 10.52 94817 chr22 38477070 38477070 C T rs115490807 SLC16A8 Synonymous SNV L325L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 12.19 94818 chr2 1497662 1497662 C G rs140322336 TPO Synonymous SNV A446A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.15 94819 chr2 141232800 141232800 C T rs72899872 LRP1B Nonsynonymous SNV A3178T 0.008 0.005 0.014 7 9 2 0.018 4 0 0 0 0 33 94820 chr22 20100166 20100166 - C rs554627514 TRMT2A Frameshift insertion P618Afs*15 0.013 0.013 0.007 0 15 5 0 2 0 0 0 0 94821 chr22 50885623 50885623 G A rs200103683 SBF1 Nonsynonymous SNV P1852L 0.009 0.008 0.003 5 10 3 0.013 1 0 0 0 0 Likely benign 17.23 94822 chr20 14307400 14307400 C T FLRT3 Synonymous SNV K251K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.121 94823 chr1 78401624 78401624 A G NEXN Synonymous SNV G392G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.75 94824 chr22 22037524 22037524 T C rs144327916 PPIL2 Synonymous SNV N177N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.768 94825 chr2 152432227 152432227 A G rs761988373 NEB Synonymous SNV N3964N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.593 94826 chr12 9001452 9001452 G A rs372629661 A2ML1 Nonsynonymous SNV R166H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 4.728 94827 chr20 17474983 17474983 G A rs201764439 BFSP1 Synonymous SNV P453P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.635 94828 chr20 32251363 32251363 T - rs750331410 C20orf144 L51Rfs*66 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 94829 chr2 157185967 157185967 G T rs16840266 NR4A2 Synonymous SNV L244L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 4.384 94830 chr2 15758382 15758382 A G DDX1 Synonymous SNV G398G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.828 94831 chr20 18724798 18724798 C A rs769354187 DTD1 Nonsynonymous SNV P178T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 94832 chr2 103048780 103048780 C T rs62154973 MIR4772 0 0 0.044 0 0 0 0 13 0 0 0 0 1.909 94833 chr2 104995800 104995800 C T rs4851692 LOC100287010 0 0 0.122 0 0 0 0 36 0 0 2 0 5.597 94834 chr20 20144813 20144813 G C rs116315783 CFAP61 Nonsynonymous SNV R382S 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 10.42 94835 chr2 160204042 160204042 T A rs202126750 BAZ2B Synonymous SNV V1767V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 11.49 94836 chr2 160289538 160289538 T C rs201050166 BAZ2B Nonsynonymous SNV T481A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 94837 chr2 105961788 105961788 C T rs116771593 C2orf49 Nonsynonymous SNV P220L 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 25.7 94838 chr22 43032829 43032829 T C rs111649710 CYB5R3 Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.013 94839 chr22 43195134 43195134 C T rs36003980 ARFGAP3 Nonsynonymous SNV A438T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.1 94840 chr1 89475169 89475169 C G rs143293057 GBP3 Nonsynonymous SNV E323D 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 16.52 94841 chr2 165997188 165997188 C T rs141705791 SCN3A Synonymous SNV T664T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 16.04 94842 chr2 111398756 111398756 T C BUB1 Nonsynonymous SNV D917G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 94843 chr2 111806832 111806832 T A rs139395474 ACOXL Stop gain C469X 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 36 94844 chr22 45723923 45723923 G A FAM118A Synonymous SNV L167L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.379 94845 chr22 45258192 45258192 C T rs143652701 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV S340F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 94846 chr12 19592939 19592939 C T rs367880727 AEBP2 Synonymous SNV D102D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.61 94847 chr22 46652516 46652516 T A rs145208153 PKDREJ Nonsynonymous SNV Y2235F 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 6.713 94848 chr20 30136897 30136897 G A rs377441140 HM13 Nonsynonymous SNV V174I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.7 94849 chr1 915388 915388 - TGTCAGATTGCGGCTTGGAGGCAGGTATAGACACAGCCATGTCCC PERM1 D340_T341insRDMAVSIPASKPQSD 0.001 0 0 1 1 0 0.003 0 0 0 0 0 94850 chr22 28503867 28503867 A G TTC28 Nonsynonymous SNV Y656H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 94851 chr2 170099526 170099526 C T rs144864408 LRP2 Nonsynonymous SNV V1203I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.923 94852 chr20 30672204 30672204 C T rs149487671 HCK Synonymous SNV D210D 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 10.6 94853 chr22 46088888 46088888 G A rs61733598 ATXN10 Synonymous SNV T43T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 9.164 94854 chr12 21242854 21242854 C T rs182332280 SLCO1B3-SLCO1B7, SLCO1B7 Synonymous SNV F579F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.767 94855 chr2 171073856 171073856 G A rs55911154 MYO3B Nonsynonymous SNV R185H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 22.9 94856 chr22 46684376 46684376 C T rs202139216 TTC38 Stop gain R325X 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 37 94857 chr2 170428337 170428337 A G FASTKD1 Nonsynonymous SNV V68A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 94858 chr12 21626567 21626569 ACG - rs750279410 RECQL R455del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 94859 chr20 31368202 31368202 G A rs151128145 DNMT3B Nonsynonymous SNV G25R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.6 94860 chr2 171627557 171627557 C G rs542668801 ERICH2 Synonymous SNV P122P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.872 94861 chr2 175311382 175311382 C T rs111563303 GPR155 Nonsynonymous SNV R629Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 94862 chr1 93698095 93698095 A G CCDC18 Nonsynonymous SNV Q801R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 94863 chr2 128700034 128700034 T G rs765145099 SAP130 Synonymous SNV T957T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.735 94864 chr12 15262158 15262158 T G RERG Nonsynonymous SNV E143D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 21.8 94865 chr2 131673679 131673679 A T ARHGEF4 Nonsynonymous SNV Q720H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.624 94866 chr2 176964759 176964759 T C rs201839891 HOXD12 Nonsynonymous SNV L77P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.7 94867 chr12 16513239 16513239 G A MGST1 Nonsynonymous SNV C76Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.183 94868 chr2 179497738 179497738 T C rs754227553 TTN Nonsynonymous SNV I5309V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.104 94869 chr2 179325816 179325816 G A rs79399438 PJVK Nonsynonymous SNV G294R 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign/Likely benign 23 94870 chr20 46386075 46386075 C G rs149439673 SULF2 Synonymous SNV L11L 0.004 0.026 0.003 3 5 10 0.008 1 0 0 0 0 8.299 94871 chr12 30866729 30866729 T C rs1011936305 CAPRIN2 Nonsynonymous SNV Y858C 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24.3 94872 chr20 33447388 33447388 G A rs146695300 GGT7 Nonsynonymous SNV T291M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 94873 chr2 179401740 179401740 C T rs55675869 TTN Nonsynonymous SNV V24301I 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 22.2 94874 chr2 179411011 179411011 T C rs72648257 TTN Nonsynonymous SNV S22618G 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 14.22 94875 chr22 50964675 50964675 C T rs1060499534 TYMP Nonsynonymous SNV G387S 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 16.86 94876 chr2 179423099 179423099 A G rs12621078 TTN Synonymous SNV L19964L 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 1.726 94877 chr20 34090938 34090938 G A CEP250 Nonsynonymous SNV G949S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.46 94878 chr12 22199282 22199282 G C rs907705513 CMAS Synonymous SNV P15P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.05 94879 chr2 179429004 179429004 G A rs56214710 TTN Synonymous SNV I18220I 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 14.54 94880 chr2 179430060 179430060 G T rs3813247 TTN Synonymous SNV T17868T 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 3.853 94881 chr2 179430996 179430996 C T rs186402008 TTN Synonymous SNV T17556T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.64 94882 chr2 179431594 179431594 A G rs3731745 TTN Nonsynonymous SNV I17357T 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 15 94883 chr2 179433221 179433221 T C rs56018860 TTN Nonsynonymous SNV T16815A 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 4.328 94884 chr2 179433580 179433580 T C rs3813246 TTN Nonsynonymous SNV N16695S 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 10.65 94885 chr2 179434139 179434139 A G rs3813245 TTN Nonsynonymous SNV Y16509H 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Benign/Likely benign 15.09 94886 chr2 179444289 179444289 A G rs2288570 TTN Synonymous SNV V13480V 0.014 0.018 0.007 7 17 7 0.018 2 0 0 0 0 Benign/Likely benign 9.211 94887 chr2 141625346 141625346 T C rs79054985 LRP1B Synonymous SNV R1464R 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 1.513 94888 chr2 179448315 179448315 A C rs72646865 TTN-AS1 0.015 0.018 0.01 7 18 7 0.018 3 0 0 0 0 Benign 2.699 94889 chr12 41967027 41967027 C T PDZRN4 Nonsynonymous SNV L558F 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.359 94890 chr22 35779112 35779112 T A rs369762159 HMOX1 Nonsynonymous SNV L13M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.5 94891 chr2 179472292 179472292 T A rs2303832 TTN Nonsynonymous SNV K8643I 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Benign/Likely benign 13.59 94892 chr2 179472293 179472293 T C rs185913848 TTN Nonsynonymous SNV K8643E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.84 94893 chr20 52193063 52193063 G A rs144638963 ZNF217 Nonsynonymous SNV S747F 0.005 0.008 0 2 6 3 0.005 0 1 0 0 0 23.9 94894 chr2 179472693 179472693 A G rs2303831 TTN Synonymous SNV D8542D 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 Benign/Likely benign 2.752 94895 chr2 179474214 179474214 G T TTN Nonsynonymous SNV P8210T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 94896 chr2 182756900 182756900 C G rs114985669 ITPRID2 Nonsynonymous SNV A36G 0.02 0.023 0.007 10 23 9 0.026 2 0 1 0 1 23.4 94897 chr2 179474466 179474466 C T rs2288566 TTN Synonymous SNV A8163A 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Benign/Likely benign 16.52 94898 chr2 179479118 179479118 - T rs200669885 TTN-AS1 0.014 0.018 0.007 6 17 7 0.015 2 0 0 0 0 94899 chr2 179484892 179484892 T A rs72677228 TTN-AS1 0.014 0.018 0.007 6 17 7 0.015 2 0 0 0 0 0.864 94900 chr2 179485599 179485599 A G rs2303829 TTN Synonymous SNV A6181A 0.014 0.018 0.007 6 17 7 0.015 2 0 0 0 0 Benign/Likely benign 0.57 94901 chr2 179499530 179499530 T C rs2288563 TTN Nonsynonymous SNV H4959R 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Benign/Likely benign 13.38 94902 chr2 179500790 179500790 A G rs55847232 TTN Synonymous SNV A4771A 0.014 0.018 0.007 6 17 7 0.015 2 0 0 0 0 Benign/Likely benign 0.316 94903 chr2 179517654 179517654 T C rs2742354 TTN Synonymous SNV P12960P 0.014 0.018 0.007 6 17 7 0.015 2 0 0 0 0 Benign 5.271 94904 chr12 44166154 44166154 T A rs201782959 IRAK4 Nonsynonymous SNV V36D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 17.26 94905 chr2 179569400 179569400 C T rs2742344 TTN Synonymous SNV S8689S 0.017 0.018 0.014 8 20 7 0.021 4 0 0 0 0 Benign/Likely benign 19.42 94906 chr2 179569436 179569436 A G rs2742343 TTN Synonymous SNV I8677I 0.017 0.018 0.014 8 20 7 0.021 4 0 0 0 0 Benign 9.846 94907 chr2 179574384 179574384 C T rs2742332 TTN Synonymous SNV R8310R 0.017 0.018 0.014 8 20 7 0.021 4 0 0 0 0 Benign/Likely benign 13.65 94908 chr12 46322141 46322141 T C SCAF11 Nonsynonymous SNV K448R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.108 94909 chr2 152490456 152490456 G A rs373453206 NEB Synonymous SNV C3042C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.684 94910 chr2 179580434 179580434 A G rs2742329 TTN Synonymous SNV Y7325Y 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 0 Benign/Likely benign 4.954 94911 chr2 179581835 179581835 C A rs2562832 TTN Nonsynonymous SNV Q7298H 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 0 Benign/Likely benign 4.588 94912 chr2 179588279 179588279 C T rs189951108 TTN Nonsynonymous SNV C5939Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.67 94913 chr20 40044209 40044209 C T rs773247099 CHD6 Nonsynonymous SNV E2186K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 94914 chr12 48736863 48736863 G A rs762496519 ZNF641 Nonsynonymous SNV R381C 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 29.7 94915 chr2 189868746 189868746 C T rs112164939 COL3A1 Synonymous SNV G900G 0.003 0.003 0.007 2 4 1 0.005 2 0 0 1 0 Benign/Likely benign 16.93 94916 chr20 4228763 4228763 G A rs143621357 ADRA1D Nonsynonymous SNV A281V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 28.9 94917 chr2 109087307 109087307 A G rs200270126 GCC2 Nonsynonymous SNV M508V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.952 94918 chr12 49360147 49360147 G A rs35034312 WNT10B Nonsynonymous SNV P301S 0.007 0.01 0.003 5 8 4 0.013 1 0 0 0 0 Benign 13.05 94919 chr2 10960921 10960921 T G rs149553803 PDIA6 Nonsynonymous SNV N24H 0.018 0.018 0.014 6 21 7 0.015 4 0 0 0 0 0.002 94920 chr12 42778752 42778752 T C PPHLN1 Synonymous SNV R119R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.427 94921 chr2 192252078 192252078 G A rs10183463 MYO1B Synonymous SNV K561K 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 14.66 94922 chr22 38620907 38620907 G T rs60964283 TMEM184B Synonymous SNV T289T 0.009 0.003 0.007 4 11 1 0.01 2 0 0 0 0 1.34 94923 chr2 111551724 111551724 C T rs532559679 ACOXL Synonymous SNV T106T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.86 94924 chr12 45429832 45429832 G A rs138216785 DBX2 Nonsynonymous SNV R157W 0.009 0 0 0 10 0 0 0 0 0 0 0 26.1 94925 chr2 196659205 196659205 A T rs201350909 DNAH7 Nonsynonymous SNV S3525T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 21.6 94926 chr2 16085917 16085917 C G rs140276895 MYCN Nonsynonymous SNV P154A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 4.528 94927 chr20 43723696 43723696 G A rs144534326 KCNS1 Nonsynonymous SNV R466C 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 25.3 94928 chr22 39136391 39136391 G A rs534367476 SUN2 Nonsynonymous SNV R434W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 94929 chr20 5935893 5935893 A G rs140044814 MCM8 Nonsynonymous SNV H161R 0.016 0.008 0 8 19 3 0.021 0 0 0 0 0 26.3 94930 chr2 113496554 113496554 C T rs116342308 CKAP2L Nonsynonymous SNV R530Q 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 Benign 25.2 94931 chr20 23546722 23546722 C T rs55722105 CST9L Synonymous SNV V81V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.62 94932 chr20 2413209 2413209 C A rs768447368 TGM6 Nonsynonymous SNV Q681K 0.001 0 0 0 1 0 0 0 0 0 0 0 29 94933 chr2 11706730 11706730 C T rs13383579 GREB1 Synonymous SNV C134C 0.009 0.005 0.01 0 10 2 0 3 0 0 0 0 13.99 94934 chr2 11725908 11725908 G A rs6744817 GREB1 Nonsynonymous SNV V346M 0.009 0.008 0.024 0 11 3 0 7 1 0 0 0 0.01 94935 chr2 11758536 11758536 C A rs61741332 GREB1 Nonsynonymous SNV P1179T 0.006 0.008 0.017 7 7 3 0.018 5 0 1 0 0 9.534 94936 chr20 44803270 44803270 G T rs747323649 CDH22 Nonsynonymous SNV L788M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 94937 chr2 186654422 186654422 C T rs1017453463 FSIP2 Synonymous SNV C853C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.924 94938 chr20 2845855 2845855 G A rs578001732 VPS16 Nonsynonymous SNV G545D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 94939 chr2 120003656 120003656 A G rs949790790 STEAP3-AS1 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.565 94940 chr2 170677643 170677643 G A METTL5 Nonsynonymous SNV T122I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 94941 chr20 61391379 61391379 T C rs75911895 NTSR1 Synonymous SNV Y339Y 0.004 0 0.007 5 5 0 0.013 2 0 0 0 0 0.002 94942 chr2 171323175 171323175 C T rs34236931 MYO3B Nonsynonymous SNV R990C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 34 94943 chr2 171400480 171400480 G T rs375433750 MYO3B Stop gain G1212X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 94944 chr2 171638777 171638777 C G ERICH2 Nonsynonymous SNV A249G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.546 94945 chr12 52938494 52938494 T C rs753617048 KRT71 Nonsynonymous SNV Y465C 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.3 94946 chr2 120714506 120714506 G A rs72840427 PTPN4 Synonymous SNV S689S 0.008 0.016 0.024 6 9 6 0.015 7 0 0 0 0 8.326 94947 chr2 174783374 174783374 T C rs59355182 SP3 Synonymous SNV K525K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.7 94948 chr2 189599497 189599497 A C rs72902678 DIRC1 0.019 0.023 0.01 4 22 9 0.01 3 0 0 0 0 0.003 94949 chr20 61981411 61981411 G A rs55915440 CHRNA4 Nonsynonymous SNV P451L 0.009 0.003 0 3 10 1 0.008 0 1 0 0 0 Benign/Likely benign 0.195 94950 chr2 175711761 175711761 G C CHN1 Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 94951 chr2 189975075 189975075 A G rs76511879 COL5A2 Synonymous SNV N66N 0.011 0.005 0 6 13 2 0.015 0 0 0 0 0 Benign/Likely benign 9.166 94952 chr20 50140459 50140459 C G rs568487915 NFATC2 Synonymous SNV S87S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.853 94953 chr20 3235916 3235916 T C rs2281496 C20orf194 Synonymous SNV K1092K 0.008 0.005 0.014 1 9 2 0.003 4 1 0 1 0 8.206 94954 chr20 3275239 3275239 G A rs2281504 C20orf194 Synonymous SNV S685S 0.008 0.005 0.014 1 9 2 0.003 4 1 0 1 0 10.7 94955 chr2 133489368 133489368 G A NCKAP5 Synonymous SNV I476I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.006 94956 chr22 46655436 46655436 C T rs763497870 PKDREJ Nonsynonymous SNV D1262N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 94957 chr2 1926821 1926821 G A rs376523179 MYT1L Synonymous SNV N240N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.473 94958 chr12 52452495 52452495 C T rs202239995 NR4A1 Nonsynonymous SNV R522W 0.017 0.01 0 1 20 4 0.003 0 0 0 0 0 23.1 94959 chr22 46656274 46656274 T G rs754432013 PKDREJ Synonymous SNV T982T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.995 94960 chr12 52711490 52711490 T A rs778124250 KRT83 Nonsynonymous SNV D242V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 94961 chr2 179659191 179659191 C T rs142414432 TTN Nonsynonymous SNV A445T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 94962 chr2 21364562 21364562 C T rs113588790 TDRD15 Nonsynonymous SNV A1408V 0.013 0.016 0.01 1 15 6 0.003 3 0 1 0 0 20.8 94963 chr12 52822142 52822142 A G rs2232405 KRT75 Nonsynonymous SNV M427T 0.024 0.013 0.017 7 28 5 0.018 5 0 0 0 0 26.3 94964 chr20 58348387 58348387 C T rs148776043 PHACTR3 Nonsynonymous SNV R158W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 94965 chr2 149539325 149539325 G T rs41269815 EPC2 Synonymous SNV S611S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 13.54 94966 chr21 16339272 16339272 A T rs748590142 NRIP1 Synonymous SNV I414I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.005 94967 chr12 52966249 52966249 T A rs73320318 KRT74 Nonsynonymous SNV D225V 0.015 0.026 0.024 9 18 10 0.023 7 0 0 0 0 31 94968 chr20 37555086 37555086 A G rs371733722 FAM83D Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 94969 chr21 22656636 22656636 A G rs199788139 NCAM2 Nonsynonymous SNV I85V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.342 94970 chr12 52979859 52979859 G A rs140133622 KRT72 Synonymous SNV D439D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.04 94971 chr20 3766867 3766867 G C CENPB Nonsynonymous SNV I88M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 94972 chr2 202688389 202688389 A G rs767348456 CDK15 Nonsynonymous SNV H182R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 94973 chr12 53096894 53096894 C T rs78374723 KRT77 Nonsynonymous SNV G109R 0.014 0.013 0.003 3 17 5 0.008 1 1 0 0 0 22.7 94974 chr2 189030565 189030565 C T rs10931329 LINC01090 0 0 0.102 0 0 0 0 30 0 0 15 0 2.23 94975 chr12 53096949 53096949 T C rs74093790 KRT77 Synonymous SNV G90G 0.011 0.005 0.007 2 13 2 0.005 2 1 0 0 0 0.02 94976 chr12 53097191 53097191 C T rs17118224 KRT77 Nonsynonymous SNV A10T 0.015 0.018 0.007 4 18 7 0.01 2 1 0 0 0 13.3 94977 chr2 218765270 218765270 G A rs977854338 MIR6809 0.003 0 0 2 3 0 0.005 0 0 0 0 0 3.353 94978 chr12 56493808 56493808 C T rs777051335 ERBB3 Nonsynonymous SNV R1042C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 23.6 94979 chr2 153475663 153475663 C T rs191661281 FMNL2 Nonsynonymous SNV P540S 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 Likely benign 11.86 94980 chr12 53585388 53585388 C T rs150910345 ITGB7 Synonymous SNV T783T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 94981 chr12 53591607 53591607 C T rs181619182 ITGB7 Synonymous SNV P110P 0.01 0.005 0.01 1 12 2 0.003 3 0 0 0 0 19.34 94982 chr12 57573272 57573272 C T rs141892093 LRP1 Synonymous SNV D1633D 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 Benign 18.43 94983 chr2 198363546 198363546 G C rs11551349 HSPD1 Synonymous SNV R9R 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.23 94984 chr2 207175023 207175023 A C rs150375195 ZDBF2 Nonsynonymous SNV E1924A 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 6.163 94985 chr2 219757616 219757616 C G WNT10A Nonsynonymous SNV R293G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 94986 chr21 34123457 34123457 C T rs752646572 PAXBP1 Nonsynonymous SNV R527H 0 0 0 2 0 0 0.005 0 0 0 0 0 31 94987 chr20 44511583 44511583 G A rs747844566 ZSWIM1 Nonsynonymous SNV A118T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 7.505 94988 chr2 163059413 163059413 T C rs753245457 FAP Nonsynonymous SNV I373V 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 23 94989 chr2 163124026 163124026 T C rs116508532 IFIH1 Nonsynonymous SNV Y954C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 94990 chr2 209007381 209007381 C T rs770990892 CRYGB Nonsynonymous SNV R170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 94991 chr2 163361074 163361074 G C KCNH7 Nonsynonymous SNV T329S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 94992 chr12 55725882 55725882 T C rs11835321 OR6C3 Nonsynonymous SNV M133T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 22 94993 chr21 35468605 35468605 G A rs35707420 SLC5A3 Nonsynonymous SNV V370M 0.014 0.016 0.003 7 17 6 0.018 1 0 0 0 0 25.4 94994 chr2 160898605 160898605 C A rs141800672 PLA2R1 Nonsynonymous SNV D200Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.609 94995 chr20 45853061 45853061 G A rs201297633 ZMYND8 Synonymous SNV A903A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.13 94996 chr20 46262263 46262263 A G rs41283354 NCOA3 Nonsynonymous SNV N283D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 94997 chr12 55968667 55968667 A G rs752605809 OR2AP1 Nonsynonymous SNV T157A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.071 94998 chr21 36164486 36164486 G C rs61750222 RUNX1 Synonymous SNV P436P 0.01 0.018 0.003 5 12 7 0.013 1 0 0 0 0 Benign 3.727 94999 chr2 206265806 206265806 G A rs574599269 PARD3B Synonymous SNV L831L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.966 95000 chr2 206364620 206364620 T C rs536006746 PARD3B Synonymous SNV S946S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.071 95001 chr2 220420990 220420990 C T rs183329050 OBSL1 Nonsynonymous SNV R1454Q 0.014 0.016 0.02 5 17 6 0.013 6 0 0 0 0 Benign 28.4 95002 chr2 210650879 210650879 C T rs199927612 UNC80 Synonymous SNV T230T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 95003 chr12 56536821 56536821 G A rs118093586 ESYT1 Nonsynonymous SNV R1013H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 31 95004 chr21 37833891 37833891 G A CLDN14 Nonsynonymous SNV H35Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 95005 chr20 62737967 62737967 G A rs140373421 NPBWR2 Nonsynonymous SNV A73V 0.01 0.005 0.007 8 12 2 0.021 2 1 0 0 0 15.72 95006 chr2 208841673 208841673 G T PLEKHM3 Nonsynonymous SNV D416E 0 0 0.003 0 0 0 0 1 0 0 0 0 25 95007 chr2 225664922 225664922 C T rs187100530 DOCK10 Synonymous SNV T1478T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 95008 chr2 225738859 225738859 G T DOCK10 Nonsynonymous SNV L365I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 95009 chr12 70965009 70965009 G A rs149998223 PTPRB Nonsynonymous SNV T748I 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 27.4 95010 chr2 209179036 209179036 G A rs146158348 PIKFYVE Nonsynonymous SNV R572Q 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Likely benign 35 95011 chr12 57863433 57863433 C T rs149817893 GLI1 Nonsynonymous SNV R382W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.4 95012 chr20 50715050 50715050 G A rs146493239 ZFP64 Synonymous SNV V61V 0.012 0.01 0.01 1 14 4 0.003 3 0 0 0 0 6.925 95013 chr12 58109707 58109707 T G rs73125477 OS9 Synonymous SNV P215P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.941 95014 chr2 171641198 171641198 A G ERICH2 Nonsynonymous SNV N24S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.075 95015 chr2 110048972 110048972 C T rs115992510 SH3RF3 Synonymous SNV Y473Y 0.009 0.005 0 1 11 2 0.003 0 1 0 0 0 10.64 95016 chr2 175201734 175201734 C T rs187058116 SP9 Synonymous SNV T307T 0.003 0.016 0.007 2 4 6 0.005 2 0 0 0 0 22.1 95017 chr12 66275680 66275680 G A HMGA2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.026 95018 chr2 113496453 113496453 G A rs76036957 CKAP2L Nonsynonymous SNV R564C 0.024 0.034 0.02 6 28 13 0.015 6 1 0 0 0 Benign 29.1 95019 chr2 179395830 179395830 G A rs774524898 TTN Nonsynonymous SNV T26106I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 95020 chr12 68720783 68720783 C A rs757274716 MDM1 Nonsynonymous SNV S51I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 95021 chr2 220043233 220043233 C T rs375896695 RETREG2 Synonymous SNV A53A 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 15.41 95022 chr2 234182665 234182665 C T rs780004910 ATG16L1 Nonsynonymous SNV H294Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 95023 chr2 234229468 234229468 C T rs137886124 SAG Nonsynonymous SNV T125M 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 95024 chr2 219414560 219414560 C G rs150600881 USP37 Nonsynonymous SNV S134T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.27 95025 chr2 11738960 11738960 T A rs772620258 GREB1 Nonsynonymous SNV H769Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 95026 chr2 11740962 11740962 G A rs372172638 GREB1 Synonymous SNV P790P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.57 95027 chr2 174131087 174131087 G A rs376222255 MAP3K20 Nonsynonymous SNV G671D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.449 95028 chr20 57767865 57767865 C T rs754958305 ZNF831 Synonymous SNV A597A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 95029 chr2 234669215 234669215 T C rs146052898 UGT1A1 Synonymous SNV S94S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.512 95030 chr20 5953257 5953257 G C rs776104822 MCM8 Nonsynonymous SNV S420T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.181 95031 chr2 181846844 181846844 A T rs146744789 UBE2E3 Synonymous SNV R25R 0.027 0.013 0.014 10 32 5 0.026 4 0 0 0 0 2.188 95032 chr2 183608387 183608387 G A rs774198787 DNAJC10 Synonymous SNV P372P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.14 95033 chr21 46117796 46117796 G A rs201774066 KRTAP10-12 Nonsynonymous SNV R227H 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 17.94 95034 chr2 179613494 179613494 C T rs147884688 TTN Nonsynonymous SNV A4545T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 1.189 95035 chr2 127956952 127956952 C T rs138626696 CYP27C1 Synonymous SNV T184T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 13.14 95036 chr21 38126554 38126554 C T rs147474255 HLCS Nonsynonymous SNV R872Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.04 95037 chr2 238290075 238290075 G C rs779588195 COL6A3 Nonsynonymous SNV N53K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 95038 chr21 46906836 46906836 C T COL18A1 Nonsynonymous SNV P768L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.9 95039 chr12 83250899 83250899 A T rs202176724 TMTC2 Nonsynonymous SNV Y65F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 95040 chr2 223168575 223168575 C T rs78734419 CCDC140 0.001 0 0 0 1 0 0 0 0 0 0 0 4.656 95041 chr12 98927312 98927312 C T rs141443652 TMPO Nonsynonymous SNV P426L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 95042 chr2 224765956 224765956 C T rs2272317 WDFY1 Synonymous SNV T143T 0.012 0.005 0.01 3 14 2 0.008 3 2 0 0 0 14.38 95043 chr2 186656460 186656460 T A rs200352552 FSIP2 Nonsynonymous SNV S1533T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 21.7 95044 chr2 179631323 179631323 C T rs149755500 TTN Nonsynonymous SNV R3117H 0.008 0.003 0 3 9 1 0.008 0 1 0 0 0 Conflicting interpretations of pathogenicity 24.6 95045 chr12 93162782 93162782 C T rs760344580 PLEKHG7 Nonsynonymous SNV L320F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 95046 chr20 6096537 6096537 C T rs141850118 FERMT1 Synonymous SNV P102P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.11 95047 chr2 227973562 227973562 C T rs368248078 COL4A4 Nonsynonymous SNV R227H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 95048 chr2 239169542 239169542 G A rs376910199 PER2 Nonsynonymous SNV S490F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 95049 chr2 224743433 224743433 T C rs139287584 WDFY1 Synonymous SNV T396T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.809 95050 chr2 182780726 182780726 G A rs202023669 ITPRID2 Nonsynonymous SNV V634M 0.004 0 0 0 5 0 0 0 0 0 0 0 0.094 95051 chr20 61467869 61467869 G C rs759377762 COL9A3 Nonsynonymous SNV G530R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.5 95052 chr2 228882588 228882588 T C rs73994847 SPHKAP Synonymous SNV K994K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.013 95053 chr2 196765081 196765081 C A rs374267729 DNAH7 Nonsynonymous SNV Q1491H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 95054 chr2 233350938 233350938 G T rs144928688 ECEL1 Nonsynonymous SNV D142E 0.005 0 0.027 5 6 0 0.013 8 0 0 1 0 Benign 8.366 95055 chr2 232087485 232087485 A G rs199882687 ARMC9 Synonymous SNV L183L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 95056 chr12 104033968 104033968 T C rs765275209 STAB2 Nonsynonymous SNV I325T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.302 95057 chr2 152476213 152476213 C G rs777939660 NEB Nonsynonymous SNV D3299H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 95058 chr22 19929263 19929263 C T rs370819229 TXNRD2 Nonsynonymous SNV V22M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.4 95059 chr2 197199169 197199169 G A rs142743109 HECW2 Synonymous SNV T158T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.97 95060 chr2 234201922 234201922 C T rs140671487 ATG16L1 Nonsynonymous SNV A387V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 95061 chr20 62560710 62560710 G A rs151265913 DNAJC5 Synonymous SNV P51P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 12.45 95062 chr2 234408547 234408547 C T rs78122518 USP40 Nonsynonymous SNV M875I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 95063 chr2 25463531 25463531 G A rs141216815 DNMT3A Synonymous SNV N565N 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 8.521 95064 chr22 19969182 19969182 C T rs113625788 ARVCF Nonsynonymous SNV D150N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 31 95065 chr2 234420361 234420361 C T rs72982319 USP40 Synonymous SNV S839S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 20.6 95066 chr12 111180488 111180488 T C PPP1CC Nonsynonymous SNV I9V 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 5.979 95067 chr2 234460046 234460046 A G rs151152774 USP40 Synonymous SNV I271I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.48 95068 chr2 234465572 234465572 A T rs79471829 USP40 Nonsynonymous SNV Y159N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.194 95069 chr2 20175312 20175312 G A rs34169020 WDR35 Synonymous SNV Y183Y 0.013 0.01 0.024 6 15 4 0.015 7 1 0 0 0 Benign 10.07 95070 chr12 112499092 112499092 A G NAA25 Nonsynonymous SNV V417A 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 23.2 95071 chr12 106708185 106708185 A G rs370829377 TCP11L2 Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.925 95072 chr12 113303277 113303277 C A rs200472051 RPH3A Nonsynonymous SNV R30S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 26.8 95073 chr2 158655962 158655962 G C rs13406336 ACVR1 Nonsynonymous SNV A15G 0.011 0.008 0.02 2 13 3 0.005 6 0 0 0 0 Benign 18.88 95074 chr2 234702430 234702430 G A rs531831808 MROH2A Nonsynonymous SNV R261H 0 0 0.007 0 0 0 0 2 0 0 0 0 17.87 95075 chr12 108589930 108589930 C T rs772879573 WSCD2 Synonymous SNV Y107Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 95076 chr21 16337731 16337731 C G rs1043816985 NRIP1 Nonsynonymous SNV R928T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 95077 chr12 109182544 109182544 C G rs142112209 SSH1 Nonsynonymous SNV R790S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.4 95078 chr12 109661663 109661663 C A ACACB Nonsynonymous SNV T1279N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 95079 chr21 46945806 46945806 A G rs150116000 SLC19A1 Synonymous SNV F366F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.194 95080 chr12 114356246 114356246 C T rs368226146 RBM19 Nonsynonymous SNV V798I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.139 95081 chr12 115112554 115112554 A T rs78115331 TBX3 Nonsynonymous SNV S376T 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 5.887 95082 chr12 110221524 110221524 C T rs55728855 TRPV4 Nonsynonymous SNV E733K 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign/Likely benign 26.8 95083 chr12 117672371 117672371 T C rs78399557 NOS1 Synonymous SNV L742L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 4.853 95084 chr2 206581049 206581049 C T rs35678298 NRP2 Synonymous SNV Y128Y 0.007 0.005 0.014 1 8 2 0.003 4 0 0 0 0 14.79 95085 chr22 24039410 24039410 C T rs117585592 RGL4 Nonsynonymous SNV S26L 0.016 0.013 0.014 4 19 5 0.01 4 1 0 0 1 17.6 95086 chr21 47549297 47549297 C T rs149172490 COL6A2 Synonymous SNV F883F 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Likely benign 19.32 95087 chr22 24621541 24621541 G A rs140980900 GGT5 Nonsynonymous SNV R360W 0.009 0.005 0.014 2 10 2 0.005 4 0 0 0 0 20.4 95088 chr12 112117090 112117090 G C BRAP Synonymous SNV L166L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.936 95089 chr22 24717548 24717548 A T rs56112030 SPECC1L Nonsynonymous SNV L200F 0.003 0.003 0.017 2 3 1 0.005 5 0 0 0 0 17.37 95090 chr12 121013629 121013629 C T rs140165853 RNF10 Synonymous SNV D750D 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 11.28 95091 chr22 24718277 24718277 T G rs55945050 SPECC1L Synonymous SNV V443V 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 Benign 3.968 95092 chr2 207172889 207172889 C T rs146428765 ZDBF2 Nonsynonymous SNV R1213W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 24 95093 chr22 26164323 26164323 G A rs774628691 MYO18B Nonsynonymous SNV G147D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.7 95094 chr2 20823733 20823733 G A rs375358172 HS1BP3 Synonymous SNV L281L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.513 95095 chr22 26937139 26937139 C T rs117701840 TPST2 Nonsynonymous SNV R153H 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 23.7 95096 chr22 28394736 28394736 C A rs1028648880 TTC28 Synonymous SNV G1637G 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 6.2 95097 chr2 241706757 241706757 T C rs35663732 KIF1A Synonymous SNV P492P 0.02 0.018 0.017 7 24 7 0.018 5 0 0 0 0 Benign/Likely benign 0.11 95098 chr12 123262080 123262080 C T rs150571965 CCDC62 Nonsynonymous SNV R27W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 95099 chr2 241874799 241874799 C T rs778810138 CROCC2 Nonsynonymous SNV R655W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 95100 chr22 31283590 31283590 A G OSBP2 Nonsynonymous SNV K63E 0 0 0 3 0 0 0.008 0 0 0 0 0 9.622 95101 chr22 31289636 31289636 C T rs371610293 OSBP2 Synonymous SNV I246I 0.003 0 0 4 4 0 0.01 0 0 0 0 0 15.46 95102 chr22 31481232 31481232 G A rs771231038 SMTN Synonymous SNV G58G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.817 95103 chr2 216214350 216214350 A G rs201429123 ATIC Nonsynonymous SNV H584R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 17.69 95104 chr2 24345324 24345324 C T rs79726112 PFN4 Nonsynonymous SNV E28K 0.004 0.013 0.007 1 5 5 0.003 2 0 0 0 0 27 95105 chr2 215845240 215845240 G A rs202141656 ABCA12 Synonymous SNV G1251G 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.36 95106 chr22 32253522 32253522 A C rs768817912 DEPDC5 Nonsynonymous SNV M1005L 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 12.36 95107 chr12 124829305 124829305 A T rs75902515 NCOR2 Nonsynonymous SNV S1508T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.072 95108 chr12 123286211 123286211 C T rs375118548 CCDC62 Synonymous SNV G506G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 95109 chr2 218683270 218683270 G A rs375633988 TNS1 Nonsynonymous SNV P1137L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.33 95110 chr2 26453084 26453084 C G rs71441018 HADHA Nonsynonymous SNV V218L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 95111 chr22 35785929 35785929 C G rs145427664 HMOX1 Nonsynonymous SNV R237G 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 22.9 95112 chr2 25039616 25039616 G A rs2278482 CENPO Synonymous SNV P226P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.939 95113 chr2 218762673 218762673 T C rs113181713 TNS1 Nonsynonymous SNV T6A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 0.02 95114 chr2 179448375 179448375 G A rs201662134 TTN Nonsynonymous SNV P12780L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 95115 chr2 179449186 179449186 G A rs72646861 TTN Nonsynonymous SNV R12633C 0.016 0.003 0.007 3 19 1 0.008 2 0 0 0 0 Benign/Likely benign 23.7 95116 chr12 124950731 124950731 G A rs761420828 NCOR2 Synonymous SNV Y231Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.577 95117 chr2 179455631 179455631 G A rs72646845 TTN Nonsynonymous SNV P11209L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 17.65 95118 chr2 27275904 27275904 A C rs140434382 AGBL5 Nonsynonymous SNV E26D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 10.03 95119 chr22 26299725 26299725 A G rs565024132 MYO18B Nonsynonymous SNV K1693R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.13 95120 chr2 179497025 179497025 A G rs16866423 TTN Synonymous SNV N5467N 0.016 0.003 0.007 3 19 1 0.008 2 0 0 0 0 Benign 5.893 95121 chr2 61575263 61575263 A G USP34 Nonsynonymous SNV V676A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.467 95122 chr2 179515483 179515483 G C rs72650066 TTN Nonsynonymous SNV P10801R 0.016 0.003 0.007 3 19 1 0.008 2 0 0 0 0 Benign 9.108 95123 chr2 27278054 27278054 C T rs780394281 AGBL5 Nonsynonymous SNV R281C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 95124 chr2 179605093 179605093 G A rs768686613 TTN Synonymous SNV P3926P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.381 95125 chr12 129559153 129559153 G A rs143170493 TMEM132D Nonsynonymous SNV T856M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 95126 chr22 38075720 38075720 C T rs144209959 LGALS1 Synonymous SNV D124D 0.004 0 0 3 5 0 0.008 0 0 0 0 0 16.92 95127 chr22 28378263 28378263 T G rs527444035 TTC28 Synonymous SNV G2464G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 5.278 95128 chr22 29708190 29708190 G C rs557172658 GAS2L1 Nonsynonymous SNV G357R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.91 95129 chr22 29876996 29876996 G A rs60825978 NEFH Nonsynonymous SNV G249S 0.015 0.005 0.003 5 18 2 0.013 1 0 0 0 0 not provided 0.713 95130 chr2 69053220 69053220 G A rs374053151 ARHGAP25 Nonsynonymous SNV R605H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 95131 chr22 30770084 30770084 G C rs201187657 KIAA1656 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 6.653 95132 chr2 182521668 182521668 G C rs199762900 CERKL Synonymous SNV P22P 0.008 0.008 0.007 1 9 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.674 95133 chr12 133159684 133159684 G C rs927076232 FBRSL1 Nonsynonymous SNV E820Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 95134 chr22 40718970 40718970 G C rs373502898 TNRC6B Nonsynonymous SNV A1633P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.933 95135 chr2 31422364 31422364 T - CAPN14 H254Lfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 95136 chr2 32476455 32476455 C T rs113631419 NLRC4 Nonsynonymous SNV A160T 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Likely benign 0.01 95137 chr2 33810451 33810451 G C rs147172208 FAM98A Nonsynonymous SNV P122A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 24 95138 chr2 3392027 3392027 A G rs775301652 TRAPPC12 Synonymous SNV G211G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.121 95139 chr2 3392030 3392030 C G rs777185825 TRAPPC12 Nonsynonymous SNV D212E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.018 95140 chr22 31685484 31685484 C T PIK3IP1 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 27.8 95141 chr22 31685487 31685487 A T PIK3IP1 Nonsynonymous SNV L169Q 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 26.7 95142 chr21 46689796 46689796 G A rs201399621 POFUT2 Nonsynonymous SNV R324W 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 25.8 95143 chr22 42610793 42610793 G A rs142871472 TCF20 Synonymous SNV S173S 0.008 0.018 0.017 6 9 7 0.015 5 0 0 0 0 6.97 95144 chr2 227661371 227661371 T A rs142818292 IRS1 Nonsynonymous SNV Y695F 0.003 0 0 0 3 0 0 0 0 0 0 0 15.27 95145 chr13 27333297 27333297 A G rs750981578 GPR12 Nonsynonymous SNV I223T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.6 95146 chr2 227966608 227966608 A G rs34509421 COL4A4 Synonymous SNV Y316Y 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign/Likely benign 4.16 95147 chr2 227985862 227985862 A G rs201278620 COL4A4 Synonymous SNV G65G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.62 95148 chr2 42515451 42515451 G A rs143932826 EML4 Nonsynonymous SNV A345T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.8 95149 chr2 228767805 228767805 G A rs367599852 DAW1 Nonsynonymous SNV E210K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 16.93 95150 chr2 190927016 190927016 C T rs575523122 MSTN Nonsynonymous SNV D103N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 95151 chr13 31232332 31232332 T C rs368357294 USPL1 Synonymous SNV L377L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 2.88 95152 chr22 43618669 43618669 G C rs138971332 SCUBE1 Nonsynonymous SNV S469R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.02 95153 chr2 45169837 45169837 G C SIX3 Synonymous SNV P198P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.409 95154 chr2 42671596 42671596 C T rs367799233 KCNG3 Synonymous SNV T263T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.173 95155 chr2 46605178 46605178 G A rs375982620 EPAS1 Synonymous SNV P465P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 95156 chr21 47664746 47664746 C T rs17183255 MCM3AP Synonymous SNV P1671P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 15.38 95157 chr21 47707039 47707039 - AAAA rs530846715 YBEY 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 95158 chr2 231861110 231861110 A T rs906910816 SPATA3 Synonymous SNV T54T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.002 95159 chr21 48064269 48064269 G A rs748148055 PRMT2 Nonsynonymous SNV D66N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.9 95160 chr22 17578795 17578795 T A IL17RA Nonsynonymous SNV F91Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.791 95161 chr2 54853206 54853206 C T rs776293503 SPTBN1 Synonymous SNV Y480Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 95162 chr2 233393664 233393664 A G rs751545999 CHRND Nonsynonymous SNV D186G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 95163 chr22 45574276 45574276 C T rs41279807 NUP50 Synonymous SNV S166S 0.012 0.021 0.014 7 14 8 0.018 4 0 0 0 0 15.92 95164 chr2 20096846 20096846 C G rs61740565 TTC32 Nonsynonymous SNV D120H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.1 95165 chr2 47604866 47604866 C T rs58450758 MIR559 0 0 0.041 0 0 0 0 12 0 0 2 0 3.535 95166 chr2 55539571 55539571 T C CCDC88A Nonsynonymous SNV I1359V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 95167 chr22 38120303 38120303 C A rs79945262 TRIOBP Synonymous SNV A580A 0.012 0.016 0.02 8 14 6 0.021 6 1 2 1 1 Benign 14.46 95168 chr22 46681141 46681141 G A rs35883013 TTC38 Nonsynonymous SNV E267K 0.014 0.013 0.014 10 16 5 0.026 4 0 0 0 2 24 95169 chr22 46832165 46832165 G A rs138150351 CELSR1 Synonymous SNV N1476N 0.002 0 0 4 2 0 0.01 0 0 0 0 0 5.221 95170 chr22 19504079 19504079 C T rs542125622 CDC45 Synonymous SNV P444P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 95171 chr2 202357086 202357086 C G rs140682631 C2CD6 Nonsynonymous SNV Q1326H 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 22 95172 chr13 42461487 42461487 T C rs377468550 VWA8 Nonsynonymous SNV K221R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 17.39 95173 chr13 42729516 42729516 C G rs149168750 DGKH Synonymous SNV T22T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 9.002 95174 chr2 234708512 234708512 G A MROH2A Synonymous SNV L472L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.23 95175 chr2 97351095 97351095 G A rs975913532 FER1L5 Synonymous SNV T608T 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 1.335 95176 chr2 97526918 97526918 C T rs149629269 SEMA4C Synonymous SNV P649P 0.013 0.018 0.01 6 15 7 0.015 3 0 0 0 0 9.6 95177 chr2 61412758 61412758 - T rs778945279 AHSA2P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 95178 chr2 204081997 204081997 C A rs367842290 NBEAL1 Synonymous SNV R2669R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 95179 chr2 61415616 61415616 G C rs780959079 USP34 Nonsynonymous SNV S3421C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.6 95180 chr13 36801519 36801519 C T CCDC169, CCDC169-SOHLH2 0.001 0 0 0 1 0 0 0 0 0 0 0 4.991 95181 chr22 21350369 21350369 C T rs117346988 LZTR1 Synonymous SNV Y729Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 10.78 95182 chr2 65131373 65131373 G A rs13028200 LINC02245 0 0 0.109 0 0 0 0 32 0 0 2 0 5.834 95183 chr2 65131511 65131511 A G rs13027905 LINC02245 0 0 0.116 0 0 0 0 34 0 0 2 0 2.475 95184 chr22 21409405 21409405 G T rs202124562 LRRC74B Synonymous SNV A289A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.359 95185 chr2 238449057 238449057 G A rs144852340 MLPH Nonsynonymous SNV E323K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.2 95186 chr2 238449058 238449058 A T rs61736277 MLPH Nonsynonymous SNV E323V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.6 95187 chr2 238449126 238449126 G C rs61737688 MLPH Nonsynonymous SNV E346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.862 95188 chr13 49794597 49794597 A C rs946374118 MLNR Nonsynonymous SNV T42P 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 27.1 95189 chr22 50887023 50887023 G C rs371304311 SBF1 Synonymous SNV T1675T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.8 95190 chr2 208477772 208477772 A G rs183039329 METTL21A X219Q 0.002 0 0 0 2 0 0 0 0 0 0 0 17.6 95191 chr2 208633403 208633403 C G rs772547364 FZD5 Nonsynonymous SNV V21L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 6.236 95192 chr13 43987003 43987003 C G rs7338624 ENOX1 Nonsynonymous SNV E51D 0.005 0 0.007 0 6 0 0 2 0 0 0 0 18.19 95193 chr3 108751627 108751627 T C rs755961082 MORC1 Nonsynonymous SNV Q502R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 9.668 95194 chr2 71660383 71660383 C T ZNF638 Synonymous SNV C1947C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 95195 chr2 240036862 240036862 C T rs199936119 HDAC4 Nonsynonymous SNV G555S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.32 95196 chr2 73308224 73308229 TCCTCC - rs562207853 RAB11FIP5 G711_G712del 0 0 0.017 0 0 0 0 5 0 0 2 0 95197 chr22 44559755 44559755 C T rs139080 PARVB Synonymous SNV F246F 0.014 0.008 0.017 3 16 3 0.008 5 0 0 0 0 18.62 95198 chr2 84908555 84908555 A T rs764941826 DNAH6 Synonymous SNV S2273S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.823 95199 chr13 50204836 50204836 G T rs374531869 ARL11 Nonsynonymous SNV V85L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.59 95200 chr2 74074539 74074539 G A rs141275418 STAMBP Nonsynonymous SNV R134Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.13 95201 chr2 85552107 85552107 G T TGOLN2 Synonymous SNV V413V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.425 95202 chr2 74730062 74730062 G A rs13023123 LBX2-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 9.347 95203 chr13 51948407 51948407 C G rs368839852 INTS6 Nonsynonymous SNV G681R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.1 95204 chr13 51957830 51957830 A G INTS6 Synonymous SNV C314C 0.002 0 0 0 2 0 0 0 0 0 0 0 1.534 95205 chr2 85827020 85827020 G A rs138954035 TMEM150A Synonymous SNV N130N 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 0.986 95206 chr13 52726772 52726772 C T rs56190615 NEK3 Nonsynonymous SNV R122H 0.009 0 0.007 1 11 0 0.003 2 0 0 0 0 24.5 95207 chr2 85035584 85035584 A G DNAH6 Nonsynonymous SNV D3886G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 95208 chr2 24262331 24262331 C G rs144078821 WDCP Nonsynonymous SNV G12R 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 23.5 95209 chr2 85577310 85577310 C T rs139043592 RETSAT Nonsynonymous SNV V218M 0.014 0.026 0.024 12 17 10 0.031 7 0 0 0 0 11.2 95210 chr2 25991689 25991689 T C rs147191545 ASXL2 Nonsynonymous SNV S127G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 2.95 95211 chr13 77825359 77825359 T C rs142342966 MYCBP2 Nonsynonymous SNV T770A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.7 95212 chr2 9731540 9731540 C T rs773284973 YWHAQ Synonymous SNV A133A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 95213 chr2 113067607 113067607 A G rs771845540 ZC3H6 Nonsynonymous SNV Q161R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.07 95214 chr13 88330249 88330249 C A rs755385290 SLITRK5 Nonsynonymous SNV P869H 0.003 0 0 0 4 0 0 0 0 0 0 0 22 95215 chr2 99160361 99160361 G C rs2230387 INPP4A Synonymous SNV L280L 0.01 0.01 0.014 3 12 4 0.008 4 0 0 0 0 9.795 95216 chr2 220100245 220100245 C T rs376079232 ANKZF1 Nonsynonymous SNV R371C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 95217 chr13 98829089 98829089 G T RNF113B Synonymous SNV V134V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 95218 chr3 121341401 121341401 C A rs201882585 FBXO40 Nonsynonymous SNV H375Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.4 95219 chr13 99449696 99449696 T C rs551298691 DOCK9 Synonymous SNV T1957T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.749 95220 chr2 27746199 27746199 C G rs768653085 GCKR Nonsynonymous SNV L591V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.94 95221 chr22 31969116 31969116 C A rs766104101 SFI1 Nonsynonymous SNV H198N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24 95222 chr22 50714208 50714208 G A rs375392362 PLXNB2 Synonymous SNV A1814A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 95223 chr13 100622668 100622688 GGCGGCGGCGGCGGCGGCGGC - rs774118755 ZIC5 P418_P424del 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 95224 chr2 11720838 11720838 T C rs149713953 GREB1 Nonsynonymous SNV S261P 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 5.907 95225 chr3 100467232 100467232 C G rs111356679 TFG Nonsynonymous SNV P354A 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 21 95226 chr22 32233073 32233073 C T rs200465447 DEPDC5 Synonymous SNV D684D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.74 95227 chr13 102375232 102375232 C T rs34397704 FGF14 Synonymous SNV A199A 0.007 0.003 0.02 4 8 1 0.01 6 0 0 0 0 Benign/Likely benign 14.6 95228 chr3 100523692 100523692 C G rs146922324 ABI3BP Nonsynonymous SNV R564P 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 23 95229 chr2 29084010 29084010 C G rs200573296 TRMT61B Nonsynonymous SNV D323H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 23.7 95230 chr2 220422698 220422698 C T rs201555617 OBSL1 Nonsynonymous SNV V1213M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.9 95231 chr22 35480467 35480467 C T rs7291048 ISX Nonsynonymous SNV A158V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 21.2 95232 chr3 108072287 108072287 G T rs199766070 HHLA2 Nonsynonymous SNV L26F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 95233 chr2 30987041 30987041 G C rs145281928 CAPN13 Nonsynonymous SNV A219G 0.023 0.021 0.017 3 27 8 0.008 5 0 0 0 0 24.3 95234 chr2 31189144 31189144 C T rs11539328 GALNT14 Synonymous SNV T108T 0.008 0.013 0.017 8 9 5 0.021 5 0 0 0 0 18.23 95235 chr3 10413526 10413526 G A rs2289272 ATP2B2 Synonymous SNV I497I 0.039 0.044 0.027 13 46 17 0.033 8 1 0 0 1 Benign 12.67 95236 chr22 37261101 37261101 G A rs774613957 NCF4 Synonymous SNV L86L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.708 95237 chr13 103514444 103514444 C T rs34061299 BIVM-ERCC5, ERCC5 Synonymous SNV H315H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 14.8 95238 chr2 227659966 227659966 T G rs143317854 IRS1 Synonymous SNV P1163P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 0.052 95239 chr2 36583511 36583511 C A rs534996132 CRIM1 Nonsynonymous SNV L26M 0.002 0 0.007 0 2 0 0 2 0 0 1 0 23.6 95240 chr2 3197810 3197810 C A EIPR1 Nonsynonymous SNV V117F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 95241 chr2 37353434 37353434 G A rs200941283 EIF2AK2 Synonymous SNV N302N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.337 95242 chr2 37398582 37398582 C A rs11569761 SULT6B1 Nonsynonymous SNV R259L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 95243 chr2 128415109 128415109 G A rs143117627 LIMS2 Synonymous SNV A13A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Benign 12.6 95244 chr22 37770783 37770783 G A rs144621009 ELFN2 Synonymous SNV D264D 0.013 0.01 0.003 5 15 4 0.013 1 1 0 0 0 0.049 95245 chr2 3605793 3605793 G A rs150583536 RNASEH1 Nonsynonymous SNV R20C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 8.706 95246 chr13 111109669 111109669 - GTCTGCGTGGG rs753335766 COL4A2-AS2 Frameshift insertion A135Pfs*119 0.019 0.021 0.037 9 22 8 0.023 11 1 1 1 1 95247 chr2 36818090 36818090 T C rs35730082 FEZ2 Nonsynonymous SNV T111A 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 15.11 95248 chr2 39083587 39083587 T G rs370877683 DHX57 Nonsynonymous SNV Q433P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.47 95249 chr22 38266350 38266350 C T rs143909761 EIF3L Synonymous SNV S201S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 95250 chr13 111536120 111536120 C T rs374936803 ANKRD10 Nonsynonymous SNV V238M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.7 95251 chr2 39070239 39070239 C G rs769930204 DHX57 Nonsynonymous SNV R676T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 21.8 95252 chr13 113750706 113750706 G A rs367714228 MCF2L Nonsynonymous SNV V995M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.664 95253 chr22 39262481 39262481 G A rs765389670 CBX6 Synonymous SNV T306T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.363 95254 chr2 46603747 46603747 G A rs61757375 EPAS1 Nonsynonymous SNV M368I 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Likely benign 14.62 95255 chr2 47287966 47287966 G A rs142959785 TTC7A Synonymous SNV A383A 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Benign 9.227 95256 chr2 44202303 44202303 T G LRPPRC Nonsynonymous SNV E264A 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 95257 chr2 45640302 45640302 G C rs34959371 SRBD1 Nonsynonymous SNV P822A 0.004 0.013 0.01 6 5 5 0.015 3 0 0 0 0 22.9 95258 chr3 12046236 12046240 TAAGA - rs782195645 SYN2 0 0 0.119 0 0 0 0 35 0 0 17 0 95259 chr3 121202408 121202408 G A rs1017580261 POLQ Nonsynonymous SNV P1932L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 95260 chr3 122274792 122274792 T C rs139882806 PARP9 Nonsynonymous SNV R111G 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 24 95261 chr2 54851953 54851953 C T SPTBN1 Synonymous SNV L386L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.25 95262 chr2 235949991 235949996 TCCTTT - rs758252684 SH3BP4 L194_F195del 0.001 0 0 0 1 0 0 0 0 0 0 0 95263 chr3 122437587 122437587 G C rs760901456 PARP14 Nonsynonymous SNV C1530S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.006 95264 chr2 155102484 155102484 A G rs779124626 GALNT13 Synonymous SNV T282T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.591 95265 chr2 238283547 238283547 C T rs760543147 COL6A3 Nonsynonymous SNV D456N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 95266 chr14 24647853 24647853 G A rs376608808 REC8 Synonymous SNV A345A 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 8.69 95267 chr2 63182738 63182738 G A rs200265269 EHBP1 Synonymous SNV A801A 0.005 0.005 0 0 6 2 0 0 0 0 0 0 14.06 95268 chr2 61622105 61622105 A G rs557168566 USP34 Synonymous SNV Y212Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.354 95269 chr14 24879391 24879391 C T rs62000678 NYNRIN Synonymous SNV I797I 0.01 0.013 0.003 10 12 5 0.026 1 0 0 0 0 18.84 95270 chr14 24884819 24884819 G A rs45560633 NYNRIN Synonymous SNV A1288A 0.004 0.013 0.003 7 5 5 0.018 1 0 0 0 0 0.132 95271 chr2 62449763 62449763 T A rs78968142 B3GNT2 Nonsynonymous SNV D136E 0.013 0.026 0.007 6 15 10 0.015 2 0 0 0 0 Benign 0.078 95272 chr14 21542514 21542531 CCTCCAGGGCTTCCCAGC - rs781714048 ARHGEF40 G211_P216del 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 95273 chr22 46134694 46134694 C T rs34763958 ATXN10 Synonymous SNV F262F 0.008 0 0 2 9 0 0.005 0 0 0 0 0 15.37 95274 chr2 133540888 133540888 C T rs201602771 NCKAP5 Nonsynonymous SNV V1166M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 95275 chr3 126736488 126736488 G T PLXNA1 Nonsynonymous SNV S1166I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 95276 chr2 71058878 71058878 A G rs200837270 CD207 Nonsynonymous SNV W264R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Pathogenic 23.7 95277 chr3 127390357 127390357 C T rs73201102 PODXL2 Synonymous SNV F502F 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 17.14 95278 chr14 35331312 35331312 T A rs758608311 BAZ1A Synonymous SNV A110A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.06 95279 chr2 241831031 241831031 C T rs199996891 MAB21L4 Nonsynonymous SNV G222R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.59 95280 chr3 12851676 12851676 G A rs183581869 CAND2 Nonsynonymous SNV A111T 0.012 0.003 0.02 7 14 1 0.018 6 0 0 0 1 22.4 95281 chr22 46774558 46774558 C T rs199688538 CELSR1 Nonsynonymous SNV R2438Q 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 16.51 95282 chr3 128344820 128344820 C T rs41266495 RPN1 Nonsynonymous SNV R391H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 35 95283 chr3 12858687 12858687 G A rs62637653 CAND2 Synonymous SNV G659G 0.009 0.003 0.02 7 11 1 0.018 6 0 0 0 1 5.424 95284 chr2 24199886 24199886 C T rs538162030 UBXN2A Synonymous SNV D76D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 95285 chr3 128664519 128664519 G A rs138621669 KIAA1257 Synonymous SNV N260N 0.005 0.005 0.017 3 6 2 0.008 5 0 0 0 0 7.937 95286 chr2 71778829 71778829 G A rs35984374 DYSF Synonymous SNV A563A 0.011 0.016 0 3 13 6 0.008 0 0 0 0 0 Benign/Likely benign 5.986 95287 chr2 71791332 71791332 A G rs34671418 DYSF Nonsynonymous SNV I820V 0.019 0.021 0.007 5 22 8 0.013 2 0 0 0 0 Benign/Likely benign 10.56 95288 chr2 71797762 71797762 G A rs34211915 DYSF Nonsynonymous SNV R1008Q 0.022 0.021 0 4 26 8 0.01 0 0 0 0 0 Benign/Likely benign 17.44 95289 chr2 71781057 71781057 G A rs749488054 DYSF Nonsynonymous SNV R670Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.5 95290 chr2 73115586 73115586 A G rs104893665 SPR Nonsynonymous SNV R150G 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 24.2 95291 chr2 149798459 149798459 C T rs375278207 KIF5C Synonymous SNV T152T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.02 95292 chr2 73519874 73519874 C T rs116522000 EGR4 Nonsynonymous SNV G58S 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 14.82 95293 chr2 73492490 73492490 T C FBXO41 Nonsynonymous SNV E495G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 95294 chr2 73496580 73496594 GCGGCGGCGGCGGCC - rs745776576 FBXO41 A57_A61del 0 0.005 0 0 0 2 0 0 0 0 0 0 95295 chr2 152321028 152321028 C T rs765722706 RIF1 Nonsynonymous SNV T1665I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.883 95296 chr22 50468912 50468912 A G rs372129183 TTLL8 Nonsynonymous SNV L733P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.038 95297 chr2 152421598 152421598 T C rs34504204 NEB Nonsynonymous SNV H4443R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.82 95298 chr2 73777514 73777514 C A ALMS1 Nonsynonymous SNV T3342N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.74 95299 chr2 74531802 74531802 G A rs565638178 SLC4A5 Nonsynonymous SNV P29S 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 1.792 95300 chr3 151155248 151155248 A C rs16863390 IGSF10 Synonymous SNV P394P 0.021 0.021 0.007 5 25 8 0.013 2 0 1 0 0 0.015 95301 chr2 74789418 74789418 G A rs748173359 M1AP Nonsynonymous SNV R403W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 95302 chr22 50658161 50658161 C T rs200451987 TUBGCP6 Synonymous SNV A1409A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14.22 95303 chr3 133209808 133209808 C G rs73861118 BFSP2-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 6.518 95304 chr14 24760356 24760356 C T rs148282342 DHRS1 Nonsynonymous SNV R265Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 95305 chr3 151542524 151542524 C T rs377143427 AADAC Nonsynonymous SNV R169C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.8 95306 chr2 84668421 84668421 G A rs141331864 SUCLG1 Nonsynonymous SNV R161C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 95307 chr2 17846775 17846775 G T rs139276977 SMC6 Nonsynonymous SNV D1089E 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 0.866 95308 chr2 159481744 159481744 G T PKP4 Nonsynonymous SNV D320Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.6 95309 chr2 88427525 88427525 G A rs144743993 FABP1 Synonymous SNV S4S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 8.538 95310 chr2 88895117 88895117 C T rs1003629254 EIF2AK3 Nonsynonymous SNV R17H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 95311 chr2 101606899 101606899 G A rs150614730 NPAS2 Nonsynonymous SNV R670Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.1 95312 chr2 96780863 96780863 C G rs777181734 ADRA2B Synonymous SNV L342L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.071 95313 chr2 166848151 166848151 C A rs748090629 SCN1A Nonsynonymous SNV E1878D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 95314 chr2 166848153 166848153 C T rs148703212 SCN1A Nonsynonymous SNV E1878K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 95315 chr3 170612128 170612128 G A rs138606381 EIF5A2 Synonymous SNV L119L 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 11.12 95316 chr3 138668458 138668467 GGCATTCGAA - rs141282655 FOXL2NB H67Lfs*27 0.019 0.013 0.01 7 22 5 0.018 3 0 1 0 0 95317 chr2 179736996 179736996 A C CCDC141 Nonsynonymous SNV L648R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.99 95318 chr3 178917488 178917488 C T rs115746478 PIK3CA Synonymous SNV I121I 0.008 0.003 0.003 10 9 1 0.026 1 0 0 0 0 Benign 4.903 95319 chr14 63856396 63856396 T C rs61756432 PPP2R5E Synonymous SNV Q260Q 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Benign 3.674 95320 chr2 32735601 32735601 A G BIRC6 Nonsynonymous SNV S3416G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.3 95321 chr3 149485801 149485801 C T rs185039468 ANKUB1 Synonymous SNV A216A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 14.03 95322 chr3 150601544 150601544 T C rs16862957 MINDY4B Synonymous SNV L280L 0 0 0.048 0 0 0 0 14 0 0 0 0 4.207 95323 chr3 151162965 151162965 C A rs79363433 IGSF10 Stop gain E1602X 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 36 95324 chr2 109397738 109397738 A G rs369829153 RANBP2 Synonymous SNV Q2871Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.904 95325 chr3 151502077 151502077 T G rs1401967 AADACP1 0 0 0.133 0 0 0 0 39 0 0 7 0 0.017 95326 chr14 65241903 65241903 G A rs138279396 SPTB Synonymous SNV D1594D 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Uncertain significance 4.903 95327 chr3 148872931 148872931 C T HPS3 Nonsynonymous SNV P315S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 95328 chr3 15478047 15478047 G A rs144767041 EAF1 Nonsynonymous SNV R242Q 0.009 0.01 0.02 8 11 4 0.021 6 0 0 0 0 23.7 95329 chr14 65253749 65253749 C T rs72724498 SPTB Synonymous SNV E978E 0.006 0.016 0.02 8 7 6 0.021 6 0 0 0 0 Benign/Likely benign 13.12 95330 chr3 108229358 108229358 C G MYH15 Nonsynonymous SNV G27A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 95331 chr14 53619778 53619778 C T rs941854198 DDHD1 Synonymous SNV E13E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 95332 chr3 157034921 157034921 C T rs145883418 VEPH1 Nonsynonymous SNV S602N 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 25.3 95333 chr2 175268987 175268987 T C rs759618305 SCRN3 Nonsynonymous SNV M226T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 95334 chr3 184037533 184037533 A T rs13319149 EIF4G1 Nonsynonymous SNV T74S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.068 95335 chr3 157099066 157099066 C T rs147644993 VEPH1 Nonsynonymous SNV D336N 0.001 0.003 0.01 3 1 1 0.008 3 0 0 0 0 24.7 95336 chr3 157155622 157155622 G A rs572907291 PTX3 Nonsynonymous SNV A151T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.33 95337 chr3 151101967 151101967 G A rs762721689 MED12L Synonymous SNV E1594E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 95338 chr2 178977283 178977283 G A RBM45 Nonsynonymous SNV A4T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 95339 chr14 70989377 70989377 G A rs144548693 ADAM20 Nonsynonymous SNV L700F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.798 95340 chr14 60027921 60027921 A G rs768680611 CCDC175 Nonsynonymous SNV I290T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 95341 chr2 179368528 179368528 G A rs145044786 PLEKHA3 Nonsynonymous SNV A273T 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 8.662 95342 chr2 179392015 179392015 T C rs55832587 TTN Synonymous SNV E26835E 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 1.968 95343 chr2 179393840 179393840 C T rs56324602 TTN Synonymous SNV R26481R 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 20.6 95344 chr2 190660586 190660586 C T rs61756360 PMS1 Nonsynonymous SNV T75I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 32 95345 chr2 179398747 179398747 T C rs56347248 TTN Nonsynonymous SNV I25134V 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.09 95346 chr2 179399451 179399451 C T rs55669553 TTN Nonsynonymous SNV R24899H 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 95347 chr2 46607719 46607719 T C rs35606117 EPAS1 Synonymous SNV N636N 0.021 0.039 0.037 8 25 15 0.021 11 0 1 0 1 Likely benign 1.877 95348 chr14 73980804 73980804 C T rs138823359 HEATR4 Nonsynonymous SNV E449K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.22 95349 chr2 179399936 179399936 G C rs55802460 TTN Synonymous SNV V24737V 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 7.147 95350 chr2 179401777 179401777 A T rs56026369 TTN Synonymous SNV I24288I 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 0.341 95351 chr14 74059041 74059041 G A rs368085846 ACOT4 Synonymous SNV E126E 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 6.325 95352 chr2 179404293 179404293 G A rs138968178 TTN Synonymous SNV L23768L 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 12.07 95353 chr2 179410666 179410666 G A rs191484894 TTN Nonsynonymous SNV S22701F 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 95354 chr2 48033484 48033484 G A rs147852216 MSH6 Nonsynonymous SNV R1133H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 95355 chr2 179410815 179410815 G A rs140663434 TTN Synonymous SNV T22651T 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 Benign/Likely benign 14.62 95356 chr2 179414800 179414800 C T rs148617456 TTN Nonsynonymous SNV A21524T 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 95357 chr2 179416801 179416801 A C rs150430592 TTN Nonsynonymous SNV C21211G 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.29 95358 chr3 157920929 157920929 G A rs201554225 RSRC1 Nonsynonymous SNV R130H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 95359 chr2 192700940 192700940 T C CAVIN2 Synonymous SNV E329E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 95360 chr2 179417091 179417091 C T rs149567378 TTN Nonsynonymous SNV R21114H 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 95361 chr14 74371782 74371782 C T ZNF410 Synonymous SNV H230H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.938 95362 chr2 179417633 179417633 C T rs142891278 TTN Synonymous SNV S20933S 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 13.71 95363 chr14 64493382 64493382 A G rs772206760 SYNE2 Nonsynonymous SNV Q2113R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.32 95364 chr2 179428119 179428119 C T rs56345408 TTN Synonymous SNV T18515T 0.009 0.01 0 6 10 4 0.015 0 0 0 0 0 Benign/Likely benign 19.92 95365 chr2 179428299 179428299 G T rs56264840 TTN Nonsynonymous SNV N18455K 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.03 95366 chr3 171417570 171417570 G A rs143845082 PLD1 Nonsynonymous SNV R398C 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 Benign 34 95367 chr2 179438235 179438235 T C rs56293906 TTN Synonymous SNV P15143P 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 2.254 95368 chr14 75052665 75052665 T C LTBP2 Nonsynonymous SNV E241G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.22 95369 chr14 75130458 75130458 T G AREL1 Nonsynonymous SNV I813L 0 0 0 1 0 0 0.003 0 0 0 0 0 27 95370 chr2 179449579 179449579 C T rs150661999 TTN Nonsynonymous SNV V12532M 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 95371 chr14 64625478 64625478 T C rs74975380 SYNE2 Synonymous SNV L5310L 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.44 95372 chr2 179451906 179451906 G A rs72646857 TTN Synonymous SNV N12279N 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 Benign/Likely benign 14.44 95373 chr2 179460433 179460433 G A rs55956577 TTN Synonymous SNV I10151I 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 14.77 95374 chr2 179477529 179477529 C G rs55663050 TTN Nonsynonymous SNV S7575T 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.47 95375 chr2 179478639 179478639 T A rs146163169 TTN Synonymous SNV L7392L 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 8.457 95376 chr2 179482533 179482533 G T rs146181477 TTN Nonsynonymous SNV P6784T 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.12 95377 chr2 179486376 179486376 C T rs144668626 TTN Nonsynonymous SNV A5994T 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 Benign/Likely benign 23.9 95378 chr3 194080125 194080125 C T rs115716405 LRRC15 Nonsynonymous SNV A550T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 24.4 95379 chr14 76249647 76249647 A T rs765493292 TTLL5 Nonsynonymous SNV Q920H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 95380 chr3 121208887 121208887 T G rs3218633 POLQ Nonsynonymous SNV E964A 0.02 0.013 0.007 3 23 5 0.008 2 1 0 0 0 Benign 0.066 95381 chr2 55582862 55582862 C T CCDC88A Nonsynonymous SNV R218Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 95382 chr2 179539812 179539812 T G rs140640738 TTN Nonsynonymous SNV E10221D 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.15 95383 chr3 169846735 169846735 T C rs113283659 PHC3 Nonsynonymous SNV I497V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.062 95384 chr3 170204096 170204096 G A rs116040996 SLC7A14 Nonsynonymous SNV T274I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 95385 chr2 179567230 179567230 A G rs188584219 TTN Synonymous SNV D8884D 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 Benign/Likely benign 3.643 95386 chr3 182947524 182947524 G A MCF2L2 Nonsynonymous SNV P659S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 95387 chr14 69256306 69256306 A G rs139922067 ZFP36L1 Synonymous SNV L321L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.555 95388 chr3 183521817 183521817 C T rs753717347 YEATS2 Synonymous SNV L1209L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 95389 chr2 179581971 179581971 C T rs149855485 TTN Nonsynonymous SNV R7253H 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.8 95390 chr3 195517617 195517617 C T rs79229103 MUC4 Synonymous SNV G278G 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 7.731 95391 chr3 121822564 121822564 G A rs181748813 CD86 Synonymous SNV S8S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.495 95392 chr2 179582063 179582063 A T rs72648986 TTN Nonsynonymous SNV D7222E 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 Benign/Likely benign 10.54 95393 chr14 69928413 69928413 G A rs111495442 SLC39A9 0.014 0.008 0.017 1 16 3 0.003 5 0 0 0 0 5.23 95394 chr2 179583967 179583967 G A rs185062935 TTN Synonymous SNV S6806S 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Benign/Likely benign 11.58 95395 chr2 179584831 179584831 G C rs149523263 TTN Nonsynonymous SNV F6602L 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.837 95396 chr3 173525619 173525619 C T NLGN1 Nonsynonymous SNV L215F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 95397 chr2 179591917 179591917 T C rs146627500 TTN Nonsynonymous SNV I5481M 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 95398 chr14 71199346 71199346 G A rs376380612 MAP3K9 Nonsynonymous SNV R647W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 95399 chr2 179594059 179594059 T C rs184412722 TTN Nonsynonymous SNV N5031S 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.77 95400 chr2 179604101 179604101 C T rs55857742 TTN Nonsynonymous SNV G4257D 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Benign/Likely benign 19.95 95401 chr3 122172771 122172771 A G rs149564101 KPNA1 Synonymous SNV A170A 0.003 0 0 0 4 0 0 0 0 0 0 0 4.571 95402 chr14 81297635 81297635 A G rs116610923 CEP128 Nonsynonymous SNV V354A 0.009 0.005 0.02 6 11 2 0.015 6 0 0 0 0 1.036 95403 chr2 179612635 179612635 C T rs150615457 TTN Nonsynonymous SNV C4831Y 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Benign/Likely benign 4.824 95404 chr2 136624173 136624173 T C rs965440504 MCM6 Synonymous SNV T247T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.447 95405 chr2 141459360 141459360 C T rs139951414 LRP1B Synonymous SNV T2119T 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Benign 11.5 95406 chr3 24009341 24009341 A G rs61755049 NR1D2 Nonsynonymous SNV K382R 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 18.12 95407 chr2 145157824 145157824 G A rs6711223 ZEB2 Synonymous SNV Y286Y 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Benign/Likely benign 0.171 95408 chr2 179641802 179641802 A G rs149453892 LOC101927055 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 0.008 95409 chr2 179659757 179659757 T C rs55972547 TTN Synonymous SNV R379R 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.317 95410 chr2 179659815 179659815 C G rs56128843 TTN Nonsynonymous SNV R360T 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 Benign/Likely benign 19.16 95411 chr2 207557965 207557965 G A rs114709725 DYTN Nonsynonymous SNV A305V 0.011 0.005 0.01 3 13 2 0.008 3 0 0 0 0 24.4 95412 chr2 179665279 179665279 G A rs56137037 TTN Synonymous SNV A142A 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 Benign/Likely benign 15.24 95413 chr14 74970695 74970695 C T rs117800773 LTBP2 Nonsynonymous SNV V1506M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 95414 chr2 179751545 179751545 A G rs201327469 CCDC141 Synonymous SNV V487V 0.004 0.013 0 5 5 5 0.013 0 0 0 0 0 0.255 95415 chr2 1520672 1520672 C T rs28913014 TPO Nonsynonymous SNV R802W 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 Uncertain significance 25.2 95416 chr3 186917412 186917412 C T rs202195227 RTP1 Nonsynonymous SNV R116C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 95417 chr2 152109283 152109284 GA - rs553068170 RBM43 H101Ffs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 95418 chr3 31621361 31621361 A G rs140306636 STT3B Nonsynonymous SNV I162V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 95419 chr3 31663659 31663659 A G rs143950703 STT3B Synonymous SNV P466P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Likely benign 8.564 95420 chr3 124418847 124418847 G A rs56320013 KALRN Nonsynonymous SNV E957K 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 95421 chr3 3194224 3194224 T C rs760831034 CRBN Nonsynonymous SNV Y354C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.3 95422 chr2 152331486 152331486 A G rs372152841 RIF1 Synonymous SNV Q2414Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.615 95423 chr3 183952068 183952068 T A VWA5B2 Nonsynonymous SNV S16T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.507 95424 chr2 183605077 183605077 C A rs13414223 DNAJC10 Nonsynonymous SNV L301I 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 29.5 95425 chr3 183975459 183975459 C T rs146013597 EEF1AKMT4, EEF1AKMT4-ECE2 Nonsynonymous SNV T132M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 95426 chr2 186603807 186603807 C G rs933778597 FSIP2-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 4.462 95427 chr2 186604144 186604144 G T rs768058514 FSIP2 Synonymous SNV L57L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.08 95428 chr2 15770209 15770209 C T rs61757206 DDX1 Synonymous SNV T689T 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 14.31 95429 chr3 18458482 18458482 C T rs61751589 SATB1 Synonymous SNV L28L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.929 95430 chr3 194338399 194338399 G A rs116803428 TMEM44 Nonsynonymous SNV A240V 0.012 0.013 0.014 2 14 5 0.005 4 0 0 0 0 0.129 95431 chr3 39228772 39228772 G A rs61736153 XIRP1 Nonsynonymous SNV A722V 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 2.737 95432 chr3 195515753 195515753 C A MUC4 Stop gain E900X 0 0 0.003 0 0 0 0 1 0 0 0 0 31 95433 chr2 73800208 73800208 C T rs367877017 ALMS1 Nonsynonymous SNV S3734L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 95434 chr2 74328191 74328191 T C rs376602456 TET3 Nonsynonymous SNV S1333P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 95435 chr2 74702828 74702829 AC - CCDC142 V510Lfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 95436 chr3 186504203 186504203 G A rs62294447 SNORA63B 0.005 0.005 0 6 6 2 0.015 0 1 0 0 0 0.008 95437 chr2 1652354 1652354 G A rs115076385 PXDN Synonymous SNV A1066A 0.004 0.013 0.017 2 5 5 0.005 5 0 0 0 0 Benign 4.565 95438 chr3 130107706 130107706 T C COL6A5 Synonymous SNV G715G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.007 95439 chr2 84745113 84745113 C T rs112166113 DNAH6 Nonsynonymous SNV H55Y 0.015 0.01 0.014 2 18 4 0.005 4 1 0 0 0 Benign 9.186 95440 chr3 42448680 42448680 A G rs17074414 LYZL4 Synonymous SNV L22L 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 0.057 95441 chr2 166626704 166626704 T C rs150682922 GALNT3 Synonymous SNV R169R 0.003 0.008 0 6 4 3 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.907 95442 chr14 92264733 92264733 A C rs145194060 TC2N Synonymous SNV T216T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.192 95443 chr3 190321920 190321920 G A rs145747140 IL1RAP Nonsynonymous SNV R23H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.2 95444 chr2 167055393 167055393 T C rs3750904 SCN9A Nonsynonymous SNV D1919G 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 Benign 15.45 95445 chr3 131102024 131102024 G T NUDT16 Nonsynonymous SNV V97L 0.003 0 0 0 4 0 0 0 0 0 0 0 22.3 95446 chr2 167056207 167056207 C T SCN9A Nonsynonymous SNV G1648S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 95447 chr3 21448176 21448182 AAAAAAA - VENTXP7 0 0 0.041 0 0 0 0 12 0 0 3 0 95448 chr2 167060594 167060594 A G rs202084411 SCN9A Nonsynonymous SNV W1549R 0.003 0.003 0.01 1 4 1 0.003 3 0 0 1 0 Conflicting interpretations of pathogenicity 11.32 95449 chr2 192922499 192922499 G A rs61744272 TMEFF2 Nonsynonymous SNV H148Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.14 95450 chr3 133647213 133647213 G A C3orf36 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.418 95451 chr2 167129256 167129256 C A rs4369876 SCN9A Nonsynonymous SNV V1002L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.217 95452 chr3 25900033 25900033 C G rs73045135 LINC00692 0 0 0.014 0 0 0 0 4 0 0 0 0 2.368 95453 chr3 25900053 25900053 A T rs73045137 LINC00692 0 0 0.017 0 0 0 0 5 0 0 0 0 0.973 95454 chr3 25900139 25900139 T A rs73045138 LINC00692 0 0 0.02 0 0 0 0 6 0 0 0 0 11.81 95455 chr2 167133540 167133540 T G rs12478318 SCN9A Nonsynonymous SNV M943L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 14.38 95456 chr3 27420755 27420755 G C SLC4A7 Nonsynonymous SNV T1100S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 95457 chr3 30769819 30769819 C T rs62636628 GADL1 Nonsynonymous SNV R494H 0.016 0.023 0.024 11 19 9 0.028 7 3 0 1 0 35 95458 chr2 197521437 197521437 G T rs370426343 CCDC150 Nonsynonymous SNV C86F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.031 95459 chr3 32398914 32398914 G A rs149146364 CMTM8 Nonsynonymous SNV R66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 95460 chr3 44674087 44674087 C T rs376436302 ZNF197, ZNF660-ZNF197 Synonymous SNV S42S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.78 95461 chr2 200193550 200193550 C T rs367947535 SATB2 Synonymous SNV Q419Q 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Likely benign 15.7 95462 chr14 94417531 94417531 T C rs11555542 ASB2 Nonsynonymous SNV N184D 0.016 0.018 0.034 10 19 7 0.026 10 0 0 0 0 24.4 95463 chr14 94847262 94847262 T A rs17580 SERPINA1 Nonsynonymous SNV E288V 0.01 0.016 0.037 7 12 6 0.018 11 0 0 0 0 Pathogenic, other 25.1 95464 chr2 201681873 201681873 G A rs530187514 BZW1 Synonymous SNV K90K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.02 95465 chr2 201756970 201756970 C T rs34907463 NIF3L1 Nonsynonymous SNV R102C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 95466 chr2 201807445 201807445 A C ORC2 Nonsynonymous SNV D128E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.713 95467 chr14 103998955 103998955 G A rs368720777 TRMT61A Nonsynonymous SNV R123H 0 0 0 2 0 0 0.005 0 0 0 0 0 32 95468 chr3 195517478 195517478 G C MUC4 Nonsynonymous SNV H325D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 95469 chr3 137796362 137796362 G A rs75242141 DZIP1L Synonymous SNV L467L 0.01 0.008 0.007 5 12 3 0.013 2 0 0 0 0 Benign 8.035 95470 chr3 38496065 38496065 C T rs3749386 ACVR2B-AS1 0 0 0.044 0 0 0 0 13 0 0 5 0 9.665 95471 chr3 13916661 13916661 G A rs74784274 WNT7A Synonymous SNV S27S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 5.958 95472 chr3 142151646 142151646 A T XRN1 Synonymous SNV I55I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 95473 chr14 96730863 96730863 C T rs145322761 BDKRB1 Stop gain R282X 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 32 95474 chr2 176987866 176987866 C T rs539591023 HOXD9 Nonsynonymous SNV P124S 0.004 0 0.007 1 5 0 0.003 2 1 0 0 0 6.386 95475 chr3 39227077 39227077 A G rs748451007 XIRP1 Nonsynonymous SNV L1287P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 95476 chr3 20027229 20027229 G A rs775137146 PP2D1 Synonymous SNV H512H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.166 95477 chr3 146318211 146318211 G A rs200100738 PLSCR5 Nonsynonymous SNV P18L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 95478 chr14 100934479 100934479 C T rs751915088 WDR25 Nonsynonymous SNV A57V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 95479 chr3 39374492 39374492 C G CCR8 Nonsynonymous SNV Q224E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 95480 chr2 179396122 179396122 C T rs777819401 TTN Nonsynonymous SNV E26009K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 95481 chr3 14939088 14939088 G A rs2307092 FGD5 Nonsynonymous SNV E941K 0.012 0.013 0.031 6 14 5 0.015 9 0 0 0 0 24.4 95482 chr14 102552279 102552279 G C rs564338058 HSP90AA1 Synonymous SNV T115T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.087 95483 chr3 14939089 14939089 A T rs2307091 FGD5 Nonsynonymous SNV E941V 0.012 0.013 0.031 6 14 5 0.015 9 0 0 0 0 25.2 95484 chr3 42659104 42659104 A G NKTR Nonsynonymous SNV K34R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 95485 chr14 105860985 105860985 C T rs149437508 PACS2 Synonymous SNV F807F 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 19.23 95486 chr2 179547455 179547455 T C rs115744476 TTN Synonymous SNV E9777E 0.006 0.016 0 0 7 6 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.048 95487 chr3 32932169 32932169 C T TRIM71 Synonymous SNV G491G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 95488 chr3 49899816 49899816 C T rs937501499 CAMKV Synonymous SNV P2P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.13 95489 chr3 33406125 33406125 G T rs17192791 FBXL2 Synonymous SNV V68V 0.008 0.003 0.017 1 9 1 0.003 5 1 0 0 0 12.51 95490 chr3 33451054 33451054 C T UBP1 Nonsynonymous SNV G199R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 95491 chr3 151164917 151164917 G T rs34197438 IGSF10 Nonsynonymous SNV T951K 0.008 0.01 0.014 3 9 4 0.008 4 0 1 0 0 15.37 95492 chr2 208993176 208993176 - A rs747500113 CRYGC Frameshift insertion Y93Vfs*15 0.001 0 0 1 1 0 0.003 0 0 0 0 0 95493 chr3 155232562 155232562 G A rs143565615 PLCH1 Nonsynonymous SNV R516W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.4 95494 chr3 10974926 10974926 C T rs78605794 SLC6A11 Synonymous SNV I487I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.42 95495 chr2 179642701 179642701 A T TTN Nonsynonymous SNV S1358T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.53 95496 chr3 157155419 157155419 G C rs148943471 PTX3 Nonsynonymous SNV G83A 0.02 0.016 0.01 1 23 6 0.003 3 0 0 0 0 9.021 95497 chr3 37396678 37396678 G A rs148417077 GOLGA4 Nonsynonymous SNV M2236I 0.009 0.003 0 6 10 1 0.015 0 0 0 0 0 21.3 95498 chr3 154139072 154139072 G C rs371994869 GPR149 Nonsynonymous SNV P460R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 95499 chr3 52014897 52014897 C G rs61729088 ABHD14A Nonsynonymous SNV R227G 0.003 0 0.003 6 4 0 0.015 1 0 0 0 0 15.2 95500 chr3 158428608 158428608 T G RARRES1 Nonsynonymous SNV K152Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.148 95501 chr3 157099025 157099025 G C rs35554741 VEPH1 Nonsynonymous SNV I349M 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 20.6 95502 chr3 52416395 52416395 G A rs200587980 DNAH1 Nonsynonymous SNV R2622Q 0.002 0 0 6 2 0 0.015 0 0 0 0 0 Uncertain significance 28.6 95503 chr3 52522163 52522163 A G rs112323499 NISCH Synonymous SNV T885T 0.001 0 0 6 1 0 0.015 0 0 0 0 0 0.001 95504 chr2 214143121 214143121 C T rs2708161 SPAG16-DT 0.01 0.013 0 3 12 5 0.008 0 0 0 0 0 4.713 95505 chr2 214354714 214354714 C A rs10167688 SPAG16 Nonsynonymous SNV P324T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.677 95506 chr3 52554873 52554873 G A rs200924394 STAB1 Synonymous SNV P1920P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 3.303 95507 chr15 26825473 26825473 G A rs201004195 GABRB3 Synonymous SNV F140F 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 14.33 95508 chr3 113729839 113729839 C T rs147328745 CCDC191 Nonsynonymous SNV R376Q 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 24 95509 chr3 115395217 115395217 T A GAP43 Nonsynonymous SNV S130T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 95510 chr3 17056205 17056205 G A rs773472078 PLCL2 Synonymous SNV A814A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.42 95511 chr3 165548658 165548658 G C rs114355070 BCHE Nonsynonymous SNV A55G 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 24.2 95512 chr3 47163147 47163147 A C rs575258352 SETD2 Synonymous SNV S949S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 0.037 95513 chr2 234474143 234474143 T C rs778693643 USP40 Nonsynonymous SNV K20E 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 16.79 95514 chr2 219508734 219508734 G A rs185508464 ZNF142 Synonymous SNV A835A 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 7.265 95515 chr2 234702379 234702382 ACCC - rs777858207 MROH2A Y244Sfs*2 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 95516 chr2 190718989 190718989 A G PMS1 Nonsynonymous SNV N155D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 95517 chr15 42139533 42139533 A - rs545674028 JMJD7-PLA2G4B, PLA2G4B 0.003 0 0 3 3 0 0.008 0 0 0 0 0 95518 chr3 4358057 4358057 C T rs372856206 SETMAR Synonymous SNV C106C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 95519 chr3 183017897 183017897 G A rs202029920 MCF2L2 Nonsynonymous SNV R401W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.5 95520 chr3 58080567 58080567 C T rs7623314 FLNB Synonymous SNV I264I 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Benign 17.69 95521 chr15 42193341 42193341 C T rs143862687 EHD4 Synonymous SNV S376S 0 0 0 3 0 0 0.008 0 0 0 0 0 17.28 95522 chr3 121712219 121712219 G A rs201105694 ILDR1 Synonymous SNV H370H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.193 95523 chr2 196866498 196866498 T C DNAH7 Synonymous SNV E358E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.152 95524 chr3 50137308 50137308 A - rs148796424 RBM5-AS1 0.003 0.003 0.034 1 4 1 0.003 10 1 0 1 0 95525 chr2 220399909 220399909 C T rs148110150 ASIC4 Synonymous SNV G472G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.31 95526 chr15 42734388 42734388 G C rs752888546 ZNF106 Nonsynonymous SNV P378A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.1 95527 chr3 66457776 66457776 C T rs144324988 LRIG1 Nonsynonymous SNV V359I 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.92 95528 chr15 42977116 42977116 T C rs79165890 STARD9 Nonsynonymous SNV C1114R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.35 95529 chr15 42982237 42982237 G C rs201340789 STARD9 Nonsynonymous SNV V2821L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.1 95530 chr3 184103913 184103913 C T rs201020244 CHRD Nonsynonymous SNV T633I 0.002 0.01 0 0 2 4 0 0 0 0 0 0 26.6 95531 chr3 52324700 52324700 G A GLYCTK Synonymous SNV K114K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 95532 chr3 45751040 45751040 G A rs145136023 SACM1L Synonymous SNV V67V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.17 95533 chr2 238657849 238657849 G A rs755681904 LRRFIP1 Nonsynonymous SNV R66H 0 0 0 2 0 0 0.005 0 0 0 0 0 28.4 95534 chr15 41063206 41063206 C T rs372401206 C15orf62 Synonymous SNV S171S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.11 95535 chr3 123167042 123167042 C T rs372095163 ADCY5 Synonymous SNV R117R 0.005 0.003 0.003 6 6 1 0.015 1 0 0 0 0 10.2 95536 chr3 123451763 123451763 C G rs886039189 MYLK Nonsynonymous SNV S323T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 95537 chr2 220439634 220439634 G A rs149916845 INHA Nonsynonymous SNV V163M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.045 95538 chr3 184654109 184654109 A C rs146067504 VPS8 Nonsynonymous SNV I979L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.64 95539 chr3 87313638 87313638 T G POU1F1 Nonsynonymous SNV K80T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 95540 chr2 202899957 202899957 G A rs34908164 FZD7 Nonsynonymous SNV G196E 0.017 0.013 0 3 20 5 0.008 0 0 1 0 0 Benign 0.138 95541 chr2 225265805 225265805 G C rs779739106 FAM124B Nonsynonymous SNV S227R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.9 95542 chr3 186389429 186389429 A G HRG Nonsynonymous SNV N137D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 95543 chr3 97593191 97593191 T C rs183219304 CRYBG3 Synonymous SNV H1051H 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 0.002 95544 chr2 227927280 227927280 C A COL4A4 Synonymous SNV G674G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 95545 chr3 4714914 4714914 C T rs377248442 ITPR1 Nonsynonymous SNV R752C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 32 95546 chr2 241517258 241517258 C T RNPEPL1 Synonymous SNV D709D 0 0 0 2 0 0 0.005 0 0 0 0 0 12.67 95547 chr3 187446255 187446255 C T BCL6 Nonsynonymous SNV C478Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 95548 chr2 228147093 228147093 A G rs56226424 COL4A3 Nonsynonymous SNV K834R 0.012 0.005 0.007 1 14 2 0.003 2 0 0 0 0 Benign/Likely benign 0.138 95549 chr2 228148507 228148507 T C rs778240614 COL4A3 Nonsynonymous SNV M894T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 95550 chr3 191098499 191098499 C T rs200184334 CCDC50 Synonymous SNV A196A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 16.16 95551 chr3 98312012 98312012 G A rs146543713 CPOX Synonymous SNV L113L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 1.839 95552 chr3 192516962 192516962 C T MB21D2 Nonsynonymous SNV R230H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 95553 chr2 231033844 231033844 G C rs200225863 SP110 Nonsynonymous SNV P689R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 20.4 95554 chr15 42982934 42982934 G A rs569918428 STARD9 Nonsynonymous SNV R3053Q 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 0.865 95555 chr15 42985813 42985813 A G rs747554664 STARD9 Nonsynonymous SNV S4013G 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 14.71 95556 chr3 48677118 48677118 C T rs61729239 CELSR3 Synonymous SNV S3300S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.97 95557 chr3 67705170 67705170 C T rs13076100 SUCLG2-AS1 0.005 0.005 0.051 6 6 2 0.015 15 3 1 6 3 5.145 95558 chr2 242036735 242036735 G C rs751306664 MTERF4 Nonsynonymous SNV Q22E 0 0 0 2 0 0 0.005 0 0 0 0 0 10.05 95559 chr3 49785447 49785447 C G rs146101769 IP6K1 Synonymous SNV V9V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 95560 chr3 9027523 9027523 T G rs866997049 SRGAP3 Nonsynonymous SNV T970P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 95561 chr4 103579032 103579032 G A rs370002189 MANBA Nonsynonymous SNV T504M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.35 95562 chr3 196214384 196214384 C A rs754402844 RNF168 Nonsynonymous SNV R148S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 95563 chr15 56970929 56970929 A C rs147328251 ZNF280D Synonymous SNV R352R 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.776 95564 chr15 57731303 57731303 G A rs61745352 CGNL1 Nonsynonymous SNV R369K 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 27.9 95565 chr3 51970296 51970296 T G rs115426717 RRP9 Nonsynonymous SNV T238P 0.009 0 0.007 0 11 0 0 2 0 0 0 0 24.9 95566 chr2 215813331 215813331 C T rs726070 ABCA12 Nonsynonymous SNV D2047N 0.017 0.016 0.017 2 20 6 0.005 5 0 0 0 0 Benign 25.1 95567 chr3 130107482 130107482 A C rs9882852 COL6A5 Nonsynonymous SNV N641H 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 0.004 95568 chr2 215910724 215910724 T G rs11890512 ABCA12 Nonsynonymous SNV N237H 0.02 0.016 0.01 5 23 6 0.013 3 0 0 1 0 Benign 8.527 95569 chr3 9809426 9809426 C T rs113139851 CAMK1 Nonsynonymous SNV G3E 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 24.1 95570 chr3 52263173 52263173 G A rs373387876 TWF2 Synonymous SNV Y309Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.617 95571 chr3 52366296 52366296 A G rs181418923 DNAH1 Nonsynonymous SNV Y391C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.8 95572 chr3 130159071 130159071 T G rs199671434 COL6A5 Nonsynonymous SNV D1963E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 95573 chr15 50786479 50786479 - AAGA rs535741597 USP8 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 95574 chr15 51032011 51032011 G A rs61752332 SPPL2A Nonsynonymous SNV A200V 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 6.554 95575 chr3 130159527 130159527 T C rs758415976 COL6A5 Synonymous SNV S2115S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 95576 chr15 51032012 51032012 C A rs61752331 SPPL2A Nonsynonymous SNV A200S 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 0.407 95577 chr2 217006039 217006039 T C rs41257924 XRCC5 Synonymous SNV F491F 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 Benign 4.467 95578 chr3 52816229 52816229 C T rs146608756 ITIH1 Synonymous SNV N4N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.27 95579 chr3 130309919 130309919 T C rs370754137 COL6A6 Nonsynonymous SNV L1418P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 18.84 95580 chr15 63092900 63092900 G C rs35997243 TLN2 Nonsynonymous SNV E2137Q 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 26.9 95581 chr3 32800976 32800976 A T rs79145950 CNOT10 Nonsynonymous SNV Y514F 0.006 0.016 0.007 2 7 6 0.005 2 0 0 0 0 28.9 95582 chr2 237489796 237489796 G A rs35095494 ACKR3 Nonsynonymous SNV V230I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.521 95583 chr3 132360973 132360973 C T rs144771431 ACAD11 Nonsynonymous SNV R127Q 0.005 0.013 0.003 0 6 5 0 1 0 0 0 0 35 95584 chr3 57322306 57322306 C A rs201609995 ASB14 Nonsynonymous SNV D63Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 95585 chr3 37365159 37365159 G A rs148103971 GOLGA4 Synonymous SNV L594L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.609 95586 chr4 1006349 1006349 C G rs768315040 FGFRL1 Nonsynonymous SNV R26G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 95587 chr2 238683029 238683029 G A LRRFIP1 Nonsynonymous SNV R333H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 95588 chr3 36900327 36900327 A G rs142687989 TRANK1 Synonymous SNV H474H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.07 95589 chr3 62268492 62268492 G A PTPRG Nonsynonymous SNV V1335I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 95590 chr2 27803089 27803089 T C rs115888025 C2orf16 Nonsynonymous SNV L1217S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.2 95591 chr3 135720663 135720663 A G rs36020282 PPP2R3A Nonsynonymous SNV N108S 0.011 0.013 0.003 7 13 5 0.018 1 0 0 0 0 12.04 95592 chr2 239186401 239186401 G A rs138909560 PER2 Synonymous SNV D59D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.459 95593 chr4 107133910 107133910 T G rs775955125 TBCK Synonymous SNV P556P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.689 95594 chr2 220347521 220347521 G A rs773969074 SPEG Nonsynonymous SNV A1861T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 95595 chr3 85851198 85851198 C T rs11713930 CADM2 Synonymous SNV G21G 0.014 0.008 0.007 3 16 3 0.008 2 0 0 0 0 13.81 95596 chr15 69689979 69689979 G A rs150827762 LOC145694 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 0.203 95597 chr2 241696781 241696781 C T rs192102667 KIF1A Nonsynonymous SNV R938Q 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 13.26 95598 chr2 32476391 32476391 C T NLRC4 Nonsynonymous SNV R181Q 0 0 0 6 0 0 0.015 0 0 0 0 1 19.92 95599 chr2 241826517 241826517 C T rs12616061 MAB21L4 Synonymous SNV K438K 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 13.35 95600 chr4 110920947 110920947 G A rs75935899 EGF Nonsynonymous SNV V917M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.22 95601 chr2 241827805 241827805 C A rs75895045 MAB21L4 Synonymous SNV P385P 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 11.89 95602 chr3 41973462 41973462 T C rs199622772 ULK4 Nonsynonymous SNV N139D 0 0.01 0 0 0 4 0 0 0 0 0 0 19.11 95603 chr2 241831168 241831168 G A rs201604905 MAB21L4 Nonsynonymous SNV A176V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.498 95604 chr3 142222221 142222221 A G rs769552527 ATR Synonymous SNV N1693N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.498 95605 chr2 241865148 241865148 G A rs115607628 CROCC2 Nonsynonymous SNV G166S 0.003 0 0 0 4 0 0 0 0 0 0 0 1.488 95606 chr15 73428260 73428260 G A rs201019764 NEO1 Nonsynonymous SNV G303S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.9 95607 chr2 241898804 241898804 G C rs116656887 CROCC2 Synonymous SNV T1010T 0.003 0 0.01 0 4 0 0 3 0 0 0 0 4.641 95608 chr2 36774150 36774150 T G rs772429458 CRIM1 Nonsynonymous SNV Y924D 0.001 0 0 6 1 0 0.015 0 0 0 0 1 24.1 95609 chr2 241902943 241902943 G A rs77474230 LOC200772 0.003 0 0 0 4 0 0 0 0 0 0 0 4.032 95610 chr2 241902986 241902986 G A rs116582004 CROCC2 Nonsynonymous SNV R1034Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 14.97 95611 chr4 119203329 119203329 C T rs147071682 PRSS12 Nonsynonymous SNV R797H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 95612 chr4 120189540 120189540 G A rs201142048 USP53 Nonsynonymous SNV R418Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.6 95613 chr15 67649718 67649718 C G IQCH Nonsynonymous SNV P52A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.483 95614 chr4 146770621 146770621 G A rs763296811 ZNF827 Nonsynonymous SNV R692W 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 95615 chr4 147724795 147724795 C G rs376382668 TTC29 Nonsynonymous SNV D382H 0.004 0 0 0 5 0 0 0 0 0 0 0 22.2 95616 chr2 242757926 242757926 G A rs756278663 NEU4 Nonsynonymous SNV R349H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.206 95617 chr4 126239535 126239535 C T rs762212536 FAT4 Synonymous SNV L657L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.297 95618 chr4 151738340 151738340 A G rs72719631 LRBA Synonymous SNV N1747N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 6.257 95619 chr4 151935681 151935681 C A rs72721739 LRBA Synonymous SNV G38G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 18.36 95620 chr4 152096180 152096180 T C rs72723740 SH3D19 Nonsynonymous SNV I112M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.148 95621 chr4 126372725 126372725 G A rs144506470 FAT4 Nonsynonymous SNV M3520I 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 Uncertain significance 15.02 95622 chr2 44065721 44065721 G C rs778605187 ABCG5 Nonsynonymous SNV P33R 0.001 0 0 6 1 0 0.015 0 0 0 0 1 Uncertain significance 0.004 95623 chr2 230675693 230675693 T C rs145741062 TRIP12 Synonymous SNV P363P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 6.223 95624 chr2 44528165 44528165 G A rs78795495 SLC3A1 Synonymous SNV E345E 0.002 0 0 6 2 0 0.015 0 0 0 0 1 Benign/Likely benign 9.127 95625 chr3 153840184 153840184 T C rs771397162 ARHGEF26 Synonymous SNV L135L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.77 95626 chr3 45942529 45942529 C T rs191809380 CCR9 Synonymous SNV T71T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.798 95627 chr3 153840186 153840186 G T rs774709835 ARHGEF26 Nonsynonymous SNV L135F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.044 95628 chr3 45761010 45761010 G A rs374692887 SACM1L Nonsynonymous SNV C138Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 31 95629 chr4 104577494 104577494 T C rs148732080 TACR3 Nonsynonymous SNV I249V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 95630 chr3 45954613 45954613 A G rs140589938 LZTFL1 Nonsynonymous SNV M9T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.088 95631 chr15 73660576 73660576 G C rs201193660 HCN4 Synonymous SNV L12L 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign 6.795 95632 chr4 129878265 129878265 C G rs35732875 SCLT1 Nonsynonymous SNV E354D 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 23.8 95633 chr4 106604164 106604164 C A rs115302648 INTS12 Nonsynonymous SNV G372V 0.015 0.029 0.014 3 18 11 0.008 4 0 0 0 0 22.1 95634 chr3 15686470 15686470 G A rs140890299 BTD Synonymous SNV P349P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.082 95635 chr4 158091599 158091599 T G rs780143117 GLRB Nonsynonymous SNV C405G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.2 95636 chr4 141543895 141543895 C T rs61730047 TBC1D9 Synonymous SNV P1085P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.84 95637 chr4 143067053 143067053 C T rs61733152 INPP4B Nonsynonymous SNV G554S 0.013 0.018 0.02 2 15 7 0.005 6 0 0 0 0 0.003 95638 chr3 164697190 164697190 T C rs924400088 SI Nonsynonymous SNV N1815S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 95639 chr4 144127232 144127232 A G rs61760233 USP38 Nonsynonymous SNV Q419R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 95640 chr3 164737517 164737517 A G rs1037472391 SI Nonsynonymous SNV F1099S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28 95641 chr4 144620906 144620911 CTGGGC - rs895589499 FREM3 R306_P307del 0 0 0.007 0 0 0 0 2 0 0 0 0 95642 chr4 164246489 164246489 T G rs5578 NPY1R Nonsynonymous SNV K374T 0.015 0.016 0.014 3 18 6 0.008 4 0 0 0 0 Benign 15.51 95643 chr3 47610572 47610572 C T rs150574744 CSPG5 Nonsynonymous SNV V510I 0.012 0.008 0.007 2 14 3 0.005 2 0 0 0 0 12.17 95644 chr4 16504352 16504352 G A rs79672412 LDB2 Synonymous SNV L346L 0.009 0 0.007 3 10 0 0.008 2 0 0 0 0 6.562 95645 chr15 79585912 79585912 A G rs554040436 ANKRD34C Nonsynonymous SNV R96G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 95646 chr4 15005436 15005436 G C rs572958953 CPEB2 Nonsynonymous SNV G380A 0 0 0.01 0 0 0 0 3 0 0 0 0 12.33 95647 chr4 154514973 154514973 A T rs146588374 TMEM131L Nonsynonymous SNV I649F 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 18.25 95648 chr4 154626317 154626317 G A rs5743708 TLR2 Nonsynonymous SNV R753Q 0.009 0.003 0.027 5 10 1 0.013 8 0 0 0 1 risk factor 27.3 95649 chr3 48419940 48419940 C T FBXW12 Nonsynonymous SNV A161V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 95650 chr3 171455379 171455379 G A rs999483206 PLD1 Synonymous SNV S77S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.59 95651 chr3 172025228 172025228 C T rs36032820 FNDC3B Synonymous SNV P379P 0.009 0.013 0.007 4 11 5 0.01 2 0 0 0 0 Benign 15.26 95652 chr3 48465366 48465366 C T rs146847340 PLXNB1 Nonsynonymous SNV V219M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 24.4 95653 chr3 172165673 172165673 G T rs4988509 GHSR Synonymous SNV P177P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 4.412 95654 chr4 155157933 155157936 TCCA - DCHS2 L2623Pfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 95655 chr4 155157940 155157940 T A DCHS2 Nonsynonymous SNV S2622C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 95656 chr3 51968725 51968725 G A rs142340392 RRP9 Nonsynonymous SNV R368W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 35 95657 chr4 124322952 124322952 C G SPRY1 Nonsynonymous SNV P69R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 95658 chr3 52558877 52558877 C G rs112837086 NT5DC2 Synonymous SNV S456S 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 11.05 95659 chr4 16760812 16760812 T C rs35508244 LDB2 Synonymous SNV S68S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.162 95660 chr15 90744710 90744710 G A rs1021966868 SEMA4B Nonsynonymous SNV R20Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.962 95661 chr3 52820449 52820449 C T rs371375008 ITIH1 Nonsynonymous SNV R290W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 95662 chr3 52282428 52282428 G A rs149234022 PPM1M Synonymous SNV L79L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.7 95663 chr3 183976140 183976140 G A rs151314557 EEF1AKMT4 Nonsynonymous SNV R182Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 18.42 95664 chr2 42275876 42275876 G C rs55918906 PKDCC Synonymous SNV V179V 0.009 0.016 0.007 4 10 6 0.01 2 0 0 0 0 10.26 95665 chr2 43451998 43451998 G A rs372932535 ZFP36L2 Synonymous SNV P315P 0.005 0 0.007 6 6 0 0.015 2 0 0 0 0 0.008 95666 chr4 1341896 1341896 C T rs138607842 UVSSA Nonsynonymous SNV S6L 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 17.25 95667 chr4 170641112 170641112 G A rs149400550 CLCN3 Nonsynonymous SNV G833S 0 0 0.014 0 0 0 0 4 0 0 0 0 28.6 95668 chr3 185190890 185190890 C T rs979026761 MAP3K13 Nonsynonymous SNV R384C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 35 95669 chr2 75107650 75107650 C T rs142174869 HK2 Synonymous SNV P508P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 12.42 95670 chr3 56026218 56026218 G A rs139250346 ERC2 Nonsynonymous SNV L708F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 26.1 95671 chr3 56114971 56114971 G A rs184678700 ERC2 Synonymous SNV F505F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 95672 chr2 80530261 80530261 G A rs767640018 LRRTM1 Synonymous SNV H228H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 3.887 95673 chr3 186383937 186383937 T C rs1126720 HRG Synonymous SNV N39N 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 Uncertain significance 6.63 95674 chr3 186389575 186389575 A C HRG Nonsynonymous SNV R185S 0.003 0 0 0 3 0 0 0 0 0 0 0 4.45 95675 chr4 141832488 141832488 G A rs773095452 RNF150 Synonymous SNV D336D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 95676 chr4 143007342 143007342 T C rs142133276 INPP4B Synonymous SNV Q814Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.022 95677 chr15 94910996 94910996 A G rs779112972 MCTP2 Synonymous SNV E76E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.894 95678 chr4 178358644 178358644 G A rs748171793 AGA Synonymous SNV C179C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 95679 chr2 24431127 24431127 T G rs3208747 ITSN2 Nonsynonymous SNV K1513Q 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 22.4 95680 chr2 85780543 85780543 A G rs367565060 GGCX Nonsynonymous SNV C266R 0.001 0 0 5 1 0 0.013 0 0 0 0 0 10.36 95681 chr3 57136600 57136600 C T IL17RD Nonsynonymous SNV G296R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 35 95682 chr15 90245033 90245033 G A rs77441492 WDR93 Nonsynonymous SNV R19Q 0.009 0.005 0 2 11 2 0.005 0 1 0 0 0 8.721 95683 chr4 2339166 2339166 C T rs142395573 ZFYVE28 Synonymous SNV E146E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 95684 chr15 100269869 100269869 T A rs78073940 LYSMD4 Nonsynonymous SNV K56M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 95685 chr3 57835519 57835519 A G rs149758819 SLMAP Synonymous SNV L165L 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 9.363 95686 chr4 185578235 185578235 G T PRIMPOL 0 0 0.003 0 0 0 0 1 0 0 0 0 0.522 95687 chr4 24578097 24578097 C T rs6841898 DHX15 Synonymous SNV T92T 0.013 0.003 0.017 4 15 1 0.01 5 0 0 0 0 11.89 95688 chr4 186111791 186111791 T A CFAP97 Nonsynonymous SNV D187V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 95689 chr3 56653501 56653501 G A rs555478261 CCDC66 Nonsynonymous SNV D828N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 95690 chr15 101031064 101031064 G A rs781672310 CERS3 Synonymous SNV V82V 0 0 0 3 0 0 0.008 0 0 0 0 0 12.79 95691 chr4 265529 265529 G T rs781949677 ZNF732 Nonsynonymous SNV Q373K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.865 95692 chr2 55561944 55561944 T A rs112409178 CCDC88A Nonsynonymous SNV E671D 0.026 0.026 0 6 30 10 0.015 0 0 0 0 0 22.5 95693 chr3 62189247 62189247 G A rs759970992 PTPRG Nonsynonymous SNV R593Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 95694 chr2 27565897 27565897 G A rs375557112 GTF3C2 Nonsynonymous SNV A122V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 95695 chr2 27724050 27724050 G A rs370444840 GCKR Nonsynonymous SNV V200I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.356 95696 chr3 58852317 58852317 T C C3orf67 Synonymous SNV L356L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.275 95697 chr16 628432 628432 C T rs112667694 PIGQ Synonymous SNV A332A 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 Likely benign 16.54 95698 chr16 839627 839627 T C rs201682101 CHTF18 Nonsynonymous SNV I173T 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 7.222 95699 chr16 1250427 1250427 G A rs771782530 CACNA1H Synonymous SNV P325P 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 0.273 95700 chr3 69221044 69221044 G A FRMD4B Nonsynonymous SNV H1025Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 95701 chr4 159638302 159638302 G A rs150812689 PPID Synonymous SNV N128N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 95702 chr3 101572228 101572228 G C rs35313454 NFKBIZ Synonymous SNV L286L 0.003 0.005 0.007 6 3 2 0.015 2 0 0 0 0 4.645 95703 chr4 25363919 25363919 C A rs76141517 ZCCHC4 Nonsynonymous SNV S402Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 95704 chr4 16165070 16165070 T C rs16893137 TAPT1 Nonsynonymous SNV N522S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.017 95705 chr4 162697058 162697058 C T rs72689202 FSTL5 Nonsynonymous SNV G192E 0.014 0.018 0.007 6 16 7 0.015 2 0 0 0 0 26 95706 chr16 1447258 1447258 C A UNKL Nonsynonymous SNV W258L 0 0 0 2 0 0 0.005 0 0 0 0 0 33 95707 chr4 2933846 2933846 G A rs745641029 MFSD10 Nonsynonymous SNV A243V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.311 95708 chr3 20043007 20043007 C T rs201179163 PP2D1 Nonsynonymous SNV C202Y 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 25.6 95709 chr2 73518989 73518989 G T rs779716402 EGR4 Nonsynonymous SNV Q353K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.005 95710 chr16 314662 314662 C T rs144208371 FAM234A Nonsynonymous SNV P465L 0.002 0 0 0 2 0 0 0 0 0 0 0 27 95711 chr3 111658442 111658442 G C PHLDB2 Nonsynonymous SNV V708L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 95712 chr3 31789461 31789461 T C rs768323621 OSBPL10 Nonsynonymous SNV N230S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 95713 chr16 701695 701695 A G rs1015334187 WDR90 Nonsynonymous SNV K263R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 95714 chr4 36230761 36230761 G C rs34482185 ARAP2 Nonsynonymous SNV S116R 0.004 0.005 0.01 5 5 2 0.013 3 0 0 0 0 11.14 95715 chr16 727088 727088 C T rs148971704 RHBDL1 Nonsynonymous SNV R107C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.3 95716 chr4 44696454 44696454 C G rs141948255 GUF1 Nonsynonymous SNV Q223E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.94 95717 chr2 75933779 75933779 T C rs138140952 GCFC2 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22 95718 chr3 9859350 9859350 C T rs201781159 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV R256W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 95719 chr4 101947212 101947212 T C PPP3CA Nonsynonymous SNV K407R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.709 95720 chr2 3751403 3751403 A G rs142564019 DCDC2C Nonsynonymous SNV Y21C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.97 95721 chr3 9944308 9944308 G A rs112623184 IL17RE Synonymous SNV A3A 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 5.644 95722 chr16 1250399 1250399 C T rs997846742 CACNA1H Nonsynonymous SNV T316I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 95723 chr4 177046444 177046444 C T rs114488021 WDR17 Nonsynonymous SNV A243V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 95724 chr3 99514602 99514602 C T rs115676498 COL8A1 Synonymous SNV T619T 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 10.55 95725 chr4 39409062 39409062 A G rs148640688 KLB Nonsynonymous SNV T165A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 95726 chr4 40044668 40044668 T C rs4610348 LOC344967 0 0 0.051 0 0 0 0 15 0 0 6 0 0.306 95727 chr3 38158347 38158347 C T rs75614900 DLEC1 Synonymous SNV S1385S 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 11.88 95728 chr3 113045474 113045474 T C CFAP44 Nonsynonymous SNV E1445G 0 0 0 3 0 0 0.008 0 0 0 0 0 24.4 95729 chr16 2816356 2816356 C T rs775643209 SRRM2 Nonsynonymous SNV R1943C 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 95730 chr3 38317132 38317132 C A rs763123804 SLC22A13 Synonymous SNV R331R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 95731 chr16 1399502 1399502 C T rs199925239 TSR3 Nonsynonymous SNV R292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 95732 chr4 40337860 40337860 T C rs376206135 CHRNA9 Synonymous SNV D27D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.344 95733 chr3 113374633 113374633 C A rs2290477 USF3 Nonsynonymous SNV A1966S 0.011 0.005 0.007 4 13 2 0.01 2 0 0 0 0 5.157 95734 chr16 1449390 1449390 C T rs141777582 UNKL Nonsynonymous SNV R240Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 25.2 95735 chr3 113376111 113376116 TGCTGC - rs751292894 USF3 Q1477_Q1478del 0.01 0.003 0 4 12 1 0.01 0 0 0 0 0 95736 chr3 113376114 113376116 TGC - USF3 Q1478del 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 95737 chr2 43655321 43655321 C A rs369627486 THADA Nonsynonymous SNV V1326L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 95738 chr4 57384865 57384865 G A rs145868854 ARL9 Nonsynonymous SNV R155Q 0.007 0.005 0.003 7 8 2 0.018 1 0 0 0 0 25.5 95739 chr2 43937146 43937146 G A rs188452228 PLEKHH2 Nonsynonymous SNV V662M 0.002 0 0 0 2 0 0 0 0 0 0 0 16.18 95740 chr16 1664843 1664843 C T rs189020189 CRAMP1 Nonsynonymous SNV A68V 0.028 0.013 0.02 7 33 5 0.018 6 2 0 0 0 15.17 95741 chr2 96688929 96688929 G A rs201647131 GPAT2 Nonsynonymous SNV R627C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.2 95742 chr4 57467152 57467152 C T rs544812410 THEGL Nonsynonymous SNV A387V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.8 95743 chr4 110681527 110681527 C T rs112534524 CFI Nonsynonymous SNV G261D 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Likely benign 8.263 95744 chr4 42403330 42403330 C T rs377514630 SHISA3 Synonymous SNV P193P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.818 95745 chr3 39307123 39307123 T C CX3CR1 Nonsynonymous SNV Y293C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 95746 chr16 1842159 1842159 G A rs147229137 IGFALS Nonsynonymous SNV S125L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 14.21 95747 chr16 1884342 1884342 C T MEIOB Nonsynonymous SNV S415N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 13.77 95748 chr4 4763704 4763704 G A rs1039904 LOC101928279 0 0 0.367 0 0 0 0 108 0 0 21 0 10.31 95749 chr2 97465384 97465384 C T rs41286594 CNNM4 Synonymous SNV S649S 0.016 0.003 0 0 19 1 0 0 1 0 0 0 Benign 0.877 95750 chr4 107163667 107163667 T A rs34840340 TBCK Nonsynonymous SNV D314V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 95751 chr2 49190384 49190384 A G rs138281715 FSHR Synonymous SNV L500L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.087 95752 chr4 48559561 48559561 A G FRYL Nonsynonymous SNV V1345A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.275 95753 chr4 48583490 48583490 C T rs145522900 FRYL Nonsynonymous SNV V707I 0.014 0.016 0.01 1 17 6 0.003 3 0 0 0 0 Benign 23.2 95754 chr4 187205363 187205363 G T rs121965071 F11 Nonsynonymous SNV G418V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 31 95755 chr3 121438503 121438503 T G rs138011865 GOLGB1 Nonsynonymous SNV E254A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 20.4 95756 chr16 4414888 4414888 C T rs147812375 CORO7, CORO7-PAM16 Nonsynonymous SNV G226E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.8 95757 chr4 54852694 54852703 TTTTATTTTA - rs200724553 RPL21P44 0 0 0.003 0 0 0 0 1 0 0 0 0 95758 chr4 187539217 187539217 G A rs3733405 FAT1 Synonymous SNV N2841N 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 0.232 95759 chr16 2140939 2140939 C T PKD1 Synonymous SNV L3982L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.419 95760 chr4 187540150 187540150 A G rs114396455 FAT1 Synonymous SNV H2530H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.239 95761 chr4 187540635 187540635 T G rs77834784 FAT1 Nonsynonymous SNV T2369P 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 0.001 95762 chr4 187540654 187540654 T A rs3796647 FAT1 Synonymous SNV A2362A 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 2.694 95763 chr4 187540918 187540918 G C rs3796648 FAT1 Nonsynonymous SNV D2274E 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 0.001 95764 chr4 1205900 1205900 G A rs978415667 CTBP1-AS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.37 95765 chr16 2282273 2282273 C T E4F1 Nonsynonymous SNV L173F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.846 95766 chr4 187541761 187541761 G A rs3733407 FAT1 Synonymous SNV T1993T 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 0.417 95767 chr4 187542316 187542316 T C rs2099854 FAT1 Synonymous SNV V1808V 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 0.023 95768 chr4 187542736 187542736 T C rs35753072 FAT1 Synonymous SNV T1668T 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 0.012 95769 chr4 187549428 187549428 C T rs2304867 FAT1 Nonsynonymous SNV A1564T 0.019 0.008 0.014 5 22 3 0.013 4 0 0 0 0 21.5 95770 chr3 121838358 121838358 G A rs9282648 CD86 Nonsynonymous SNV D211N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 12 95771 chr4 57180968 57180968 G C rs112098777 CRACD Nonsynonymous SNV E434Q 0.012 0.003 0.02 5 14 1 0.013 6 0 0 0 0 8.286 95772 chr3 101384148 101384148 T C rs142202784 ZBTB11 Nonsynonymous SNV N428S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.001 95773 chr16 3026708 3026708 C T PKMYT1 Nonsynonymous SNV R43K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 95774 chr4 189061099 189061099 C A rs138508820 TRIML1 Nonsynonymous SNV S129R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 95775 chr16 5115751 5115751 C A rs142191897 C16orf89 Nonsynonymous SNV R53S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23.9 95776 chr4 59350 59350 A G rs1045387254 ZNF595, ZNF718 Nonsynonymous SNV I11V 0.007 0.003 0.02 4 8 1 0.01 6 0 0 0 0 5.838 95777 chr4 6234952 6234952 G A rs75681717 LINC02495 0 0 0.007 0 0 0 0 2 0 0 0 0 3.054 95778 chr4 6303772 6303772 C T rs369498603 WFS1 Synonymous SNV A750A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.881 95779 chr16 4027506 4027506 G C rs763072978 ADCY9 Synonymous SNV L935L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 8.008 95780 chr4 72338589 72338589 A G rs72650362 SLC4A4 Nonsynonymous SNV K558R 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 95781 chr16 4411228 4411228 C T rs200011523 CORO7, CORO7-PAM16 Nonsynonymous SNV R485Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 33 95782 chr3 111821782 111821782 A G rs149820783 C3orf52 Synonymous SNV E122E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.795 95783 chr4 3445769 3445784 CCCTGGATCCCTGTGC - rs562047823 HGFAC L161Pfs*81 0.011 0.003 0.017 3 13 1 0.008 5 0 0 0 0 95784 chr16 4714745 4714745 A G rs3890069 MGRN1 Synonymous SNV V199V 0.01 0.013 0.007 7 12 5 0.018 2 0 0 0 0 9.105 95785 chr16 4751004 4751004 G A rs117007233 ANKS3 Synonymous SNV P244P 0.01 0.013 0.007 6 12 5 0.015 2 0 0 0 0 1.866 95786 chr16 4752108 4752110 CTG - rs573376043 ANKS3 S162del 0.01 0.013 0.007 6 12 5 0.015 2 0 0 0 0 95787 chr16 4755108 4755108 G A rs78074706 ANKS3 Nonsynonymous SNV R113W 0.01 0.013 0.003 6 12 5 0.015 1 0 0 0 0 19.02 95788 chr3 124952457 124952457 C T rs150187376 ZNF148 Synonymous SNV S371S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 14.12 95789 chr16 4774775 4774775 T G rs35182782 ANKS3 Synonymous SNV I10I 0.014 0.013 0.007 8 17 5 0.021 2 0 0 0 0 12.43 95790 chr16 4796418 4796418 G A rs61742417 C16orf71 Synonymous SNV P362P 0.014 0.013 0.007 8 17 5 0.021 2 0 0 0 0 6.2 95791 chr16 4812705 4812705 A G rs61733564 ZNF500 Nonsynonymous SNV F156S 0.015 0.013 0.01 8 18 5 0.021 3 0 0 0 0 0.159 95792 chr16 15813138 15813138 T G MYH11 Nonsynonymous SNV K1704Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 95793 chr4 77204570 77204570 C T rs78586494 FAM47E Nonsynonymous SNV R381C 0.019 0.021 0.027 4 22 8 0.01 8 0 0 0 0 12.4 95794 chr3 127348093 127348093 - CGCCGCTGCTTT PODXL2 L18_L19insSPLL 0.002 0 0 1 2 0 0.003 0 0 0 0 0 95795 chr2 71895954 71895954 C T rs886056283 DYSF Nonsynonymous SNV T1790I 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 34 95796 chr3 113623078 113623078 G A rs576890490 GRAMD1C Nonsynonymous SNV V45I 0.003 0 0 0 3 0 0 0 0 0 0 0 10.47 95797 chr2 72958141 72958141 A C rs201669709 EXOC6B Synonymous SNV T40T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.037 95798 chr2 73477492 73477492 G A rs200915592 CCT7 Nonsynonymous SNV G173S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28.2 95799 chr3 47040921 47040921 C T NBEAL2 Synonymous SNV S1186S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.55 95800 chr4 73003756 73003756 G A rs138772964 NPFFR2 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 26.4 95801 chr3 47450748 47450748 C T rs746082375 PTPN23 Nonsynonymous SNV L454F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.24 95802 chr3 129247886 129247886 G A rs144317206 RHO Nonsynonymous SNV V104I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Uncertain significance 13.11 95803 chr3 119132956 119132956 C T rs539048828 ARHGAP31 Nonsynonymous SNV T727I 0.006 0.016 0 2 7 6 0.005 0 0 0 0 0 17.26 95804 chr4 15444136 15444136 T A C1QTNF7 Nonsynonymous SNV F202I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 29.5 95805 chr4 74964830 74964830 C T rs186397980 CXCL2 Nonsynonymous SNV R3H 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 0.052 95806 chr4 141590840 141590840 G T rs368726894 TBC1D9 Nonsynonymous SNV T462N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.1 95807 chr3 47888819 47888819 C T rs114902473 DHX30 Synonymous SNV I662I 0.001 0.005 0.01 3 1 2 0.008 3 0 0 0 0 14.82 95808 chr4 40133463 40133463 C T N4BP2 Synonymous SNV L1524L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 95809 chr4 148545976 148545976 G A rs769968152 TMEM184C Nonsynonymous SNV G105R 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 18.69 95810 chr4 81123075 81123075 C A rs374385368 PRDM8 Synonymous SNV S153S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 13.37 95811 chr3 48671025 48671025 C G rs193176261 SLC26A6 Nonsynonymous SNV D2H 0.003 0.008 0.01 3 4 3 0.008 3 0 0 0 0 23 95812 chr2 75914985 75914985 A T rs41286003 GCFC2 Nonsynonymous SNV I384N 0.011 0.013 0.01 3 13 5 0.008 3 0 0 0 0 24.9 95813 chr3 49067968 49067968 T C rs780388648 QRICH1 Nonsynonymous SNV M750V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.154 95814 chr3 132298373 132298373 T C rs145935457 ACAD11 Nonsynonymous SNV I551V 0.007 0.013 0.007 4 8 5 0.01 2 0 0 0 0 4.617 95815 chr4 8230263 8230263 G A rs771361930 SH3TC1 Nonsynonymous SNV V872M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 95816 chr16 15820735 15820735 C T rs113154524 MYH11 Synonymous SNV A1276A 0.015 0.01 0.003 9 18 4 0.023 1 0 0 0 1 Benign/Likely benign 11.05 95817 chr4 155506948 155506948 C T rs146737896 FGA Nonsynonymous SNV E545K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.025 95818 chr4 152198363 152198363 G A PRSS48 Synonymous SNV L13L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 9.63 95819 chr3 49161313 49161313 C T rs13082063 LAMB2 Synonymous SNV A1215A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.508 95820 chr4 155507303 155507303 T C rs141997057 FGA Synonymous SNV R426R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.083 95821 chr4 4322396 4322396 C T rs200684455 ZBTB49 Nonsynonymous SNV R551C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 95822 chr16 19533131 19533131 A G rs142292419 GDE1 Synonymous SNV S52S 0.003 0.005 0.01 6 3 2 0.015 3 0 0 0 0 5.37 95823 chr4 159790010 159790010 G A rs62001913 FNIP2 Nonsynonymous SNV R387Q 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 Likely benign 1.686 95824 chr4 80952845 80952845 A G rs201468232 ANTXR2 Synonymous SNV S266S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.984 95825 chr4 81124342 81124342 C T rs28405693 PRDM8 Synonymous SNV L576L 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 9.658 95826 chr3 134967263 134967263 C A rs56317545 EPHB1 Synonymous SNV R868R 0.009 0.005 0 9 11 2 0.023 0 0 0 0 0 19.29 95827 chr4 81967190 81967190 C A rs1055877104 BMP3 Synonymous SNV L205L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.354 95828 chr2 86292416 86292416 G A rs188057926 POLR1A Nonsynonymous SNV P680L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.56 95829 chr16 21980005 21980005 T G UQCRC2 Synonymous SNV L223L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 95830 chr3 50311986 50311986 C A rs143602808 SEMA3B Nonsynonymous SNV H101N 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 19.03 95831 chr4 155530877 155530877 C T rs6063 FGG Nonsynonymous SNV G191R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 95832 chr16 23847583 23847583 G A rs146177740 PRKCB Synonymous SNV K29K 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 8.978 95833 chr16 25258269 25258269 G A rs61730234 ZKSCAN2 Synonymous SNV C416C 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 9.748 95834 chr16 30124016 30124016 G A rs138427877 GDPD3 Nonsynonymous SNV S94L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 26.1 95835 chr4 16077401 16077401 G A rs10033086 PROM1 Synonymous SNV T43T 0.026 0.029 0.01 13 31 11 0.033 3 1 0 0 0 Benign 9.078 95836 chr4 16077515 16077515 G A rs10033189 PROM1 Synonymous SNV L5L 0.024 0.018 0.007 13 28 7 0.033 2 1 0 0 0 Benign 7.389 95837 chr4 88046199 88046199 A C rs200278451 AFF1 Nonsynonymous SNV E457A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 95838 chr4 90034134 90034134 G A rs150388087 TIGD2 Synonymous SNV G3G 0.007 0.005 0.017 2 8 2 0.005 5 0 0 0 0 1.315 95839 chr3 141164196 141164196 G C ZBTB38 Nonsynonymous SNV G989A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.871 95840 chr3 52537917 52537917 A C rs934025909 STAB1 Nonsynonymous SNV S341R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 95841 chr3 52537918 52537918 G C rs1051505192 STAB1 Nonsynonymous SNV S341T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 95842 chr4 88534401 88534401 G A rs61738515 DSPP Nonsynonymous SNV V355I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.19 95843 chr16 30980725 30980725 A T SETD1A Nonsynonymous SNV K957M 0 0 0 2 0 0 0.005 0 0 0 0 0 19.76 95844 chr4 88537378 88537378 T C rs111205184 DSPP Synonymous SNV D1188D 0 0 0.054 0 0 0 0 16 0 0 4 0 0.025 95845 chr4 88537438 88537438 T C rs111536498 DSPP Synonymous SNV S1208S 0 0 0.017 0 0 0 0 5 0 0 0 0 0.128 95846 chr4 88583953 88583953 C T rs140807822 DMP1 Synonymous SNV S325S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.994 95847 chr2 99012481 99012481 G A rs104893614 CNGA3 Nonsynonymous SNV R265Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Pathogenic 32 95848 chr16 31089691 31089691 C T rs149092345 ZNF646 Synonymous SNV S682S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.99 95849 chr2 99907751 99907797 AGACTTCCTGGACAAGACACCAGCGATCACGGCAGGATCCATGCAGT - rs777391872 LYG1 Y79Sfs*3 0.003 0 0 1 4 0 0.003 0 0 0 0 0 95850 chr4 88732968 88732968 G A rs141138203 IBSP Nonsynonymous SNV G287E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 95851 chr16 30505572 30505572 C T rs145951975 ITGAL Nonsynonymous SNV S335L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 2.532 95852 chr4 88996777 88996777 A G rs373794310 PKD2 Synonymous SNV P946P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.973 95853 chr16 31154231 31154231 G T rs188497178 PRSS36 Nonsynonymous SNV A395E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.1 95854 chr4 183720838 183720838 - GTTTGGGGTCCTCA TENM3 Frameshift insertion R2479Vfs*22 0.008 0.005 0 0 9 2 0 0 0 0 0 0 95855 chr16 31927353 31927353 C T rs79859029 ZNF267 Nonsynonymous SNV R595W 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 95856 chr3 129183592 129183592 G A rs150496357 IFT122 Synonymous SNV S125S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 8.88 95857 chr16 46766132 46766132 T C MYLK3 Nonsynonymous SNV S143G 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.004 95858 chr16 50342250 50342250 G C ADCY7 Synonymous SNV L621L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 2.34 95859 chr16 50344691 50344691 C T rs79754369 ADCY7 Synonymous SNV L752L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 15.41 95860 chr16 53308149 53308149 G A rs61747627 CHD9 Synonymous SNV L1634L 0.053 0.057 0.041 13 62 22 0.033 12 3 1 0 0 9.76 95861 chr4 17711208 17711208 C A rs556541561 FAM184B Synonymous SNV R67R 0.006 0.003 0 2 7 1 0.005 0 1 0 0 0 10.48 95862 chr5 10448375 10448375 T A rs41280363 ROPN1L Stop gain Y45X 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 35 95863 chr4 70620473 70620473 A G rs140281103 SULT1B1 Synonymous SNV D64D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 1.259 95864 chr3 58135902 58135902 C T rs147648427 FLNB Synonymous SNV A2081A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.02 95865 chr16 55734096 55734096 G A rs776187250 SLC6A2 Nonsynonymous SNV D441N 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24.5 95866 chr3 58417335 58417335 A G rs138128142 PDHB Synonymous SNV A78A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.506 95867 chr16 56388893 56388893 C T rs116862304 GNAO1 Synonymous SNV N331N 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 Benign 9.287 95868 chr3 61989044 61989044 A C rs370339396 PTPRG Nonsynonymous SNV D131A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28 95869 chr16 50339438 50339438 G A rs115036947 ADCY7 Synonymous SNV S540S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.54 95870 chr16 50342310 50342310 C T rs757639595 ADCY7 Synonymous SNV A641A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.96 95871 chr16 56921840 56921840 G A rs36049418 SLC12A3 Nonsynonymous SNV A728T 0.005 0.008 0.003 4 6 3 0.01 1 0 0 0 0 Likely benign 6.599 95872 chr5 108704268 108704268 T C PJA2 Nonsynonymous SNV Q488R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 95873 chr16 55523654 55523654 C T rs16955236 MMP2 Synonymous SNV A316A 0.019 0.013 0.01 5 22 5 0.013 3 0 0 0 0 Benign 15.84 95874 chr5 11411712 11411712 G A rs985561568 CTNND2 Synonymous SNV D34D 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 9.701 95875 chr3 164700124 164700124 T C SI Synonymous SNV V1774V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.598 95876 chr3 112724392 112724392 C T NEPRO Nonsynonymous SNV M398I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.46 95877 chr3 164792451 164792451 A G rs146222650 SI Synonymous SNV I41I 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Uncertain significance 4.885 95878 chr5 114469671 114469671 T C rs150549112 TRIM36 Nonsynonymous SNV I319V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 95879 chr3 167023573 167023573 C T rs140166106 ZBBX Nonsynonymous SNV S528N 0.014 0.008 0.014 11 16 3 0.028 4 0 0 0 0 0.004 95880 chr3 113082087 113082087 G A rs141547615 CFAP44 Nonsynonymous SNV R947W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.9 95881 chr4 187541728 187541728 A G rs200115380 FAT1 Synonymous SNV I2004I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.32 95882 chr3 1367541 1367541 C G rs150393896 CNTN6 Nonsynonymous SNV S226C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 95883 chr3 113120586 113120586 T C rs140218323 CFAP44 Nonsynonymous SNV I391V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.5 95884 chr3 113172508 113172508 T G SPICE1 Synonymous SNV V649V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.692 95885 chr3 113441818 113441818 T C rs34588634 NAA50 Synonymous SNV G88G 0.017 0.008 0 12 20 3 0.031 0 0 0 0 0 12.65 95886 chr5 118970016 118970016 G C rs1043252820 FAM170A Nonsynonymous SNV E144D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 95887 chr4 3158865 3158865 A G rs756082346 HTT Nonsynonymous SNV Y1231C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.59 95888 chr3 170584249 170584249 C A rs13462 RPL22L1 Nonsynonymous SNV V97F 0.003 0.003 0.01 3 4 1 0.008 3 0 0 0 0 26.9 95889 chr16 67063336 67063336 G A rs201510751 CBFB Nonsynonymous SNV R9K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.41 95890 chr16 67268351 67268351 C T rs146332890 FHOD1 Synonymous SNV A448A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.67 95891 chr4 79351505 79351505 C T rs764372113 FRAS1 Nonsynonymous SNV R1635W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 95892 chr16 68358678 68358678 G - PRMT7 G76Dfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 95893 chr16 68405424 68405424 C T rs747141024 SMPD3 Nonsynonymous SNV G221S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 95894 chr5 126140590 126140590 G C rs754635429 LMNB1 Nonsynonymous SNV G161A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.178 95895 chr4 8089932 8089932 C T rs190189401 ABLIM2 Nonsynonymous SNV V140M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 5.814 95896 chr4 265024 265024 C T rs200663767 ZNF732 Nonsynonymous SNV R541H 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 3.641 95897 chr3 120121731 120121731 T A rs961544613 FSTL1 Synonymous SNV G243G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.609 95898 chr3 120121732 120121732 C T rs769875437 FSTL1 Nonsynonymous SNV G243E 0.002 0 0 0 2 0 0 0 0 0 0 0 32 95899 chr4 2933284 2933284 G A rs143426149 MFSD10 Nonsynonymous SNV R341W 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 18.05 95900 chr3 9948059 9948059 G A rs59269999 IL17RE Nonsynonymous SNV G94S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.792 95901 chr16 67264648 67264648 C T rs112730433 FHOD1 Nonsynonymous SNV R905Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27 95902 chr4 83406729 83406729 C A TMEM150C Stop gain E229X 0.003 0 0 2 3 0 0.005 0 1 0 0 0 44 95903 chr3 9955661 9955661 T A rs7647642 IL17RE Nonsynonymous SNV S301T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.005 95904 chr5 131714129 131714129 G A rs386134194 SLC22A5 Synonymous SNV V151V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.73 95905 chr16 67434868 67434868 G A rs34689150 ZDHHC1 Synonymous SNV N140N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.223 95906 chr3 9956181 9956181 C T rs111889619 IL17RE Nonsynonymous SNV P440L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.735 95907 chr4 3076609 3076609 - CAG HTT Q38_P39insQ 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 95908 chr5 135178109 135178109 A G rs77793223 SLC25A48 Synonymous SNV A17A 0.013 0.008 0.027 1 15 3 0.003 8 1 0 0 0 9.508 95909 chr16 71697882 71697882 C A rs145376634 PHLPP2 Nonsynonymous SNV Q635H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.2 95910 chr4 100201320 100201320 C - ADH1A Stop gain W315* 0.001 0 0 0 1 0 0 0 0 0 0 0 95911 chr5 137419788 137419788 C G rs199755858 WNT8A Nonsynonymous SNV L4V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 9.111 95912 chr16 72992667 72992667 C G rs2073852 ZFHX3 Nonsynonymous SNV E460Q 0.012 0.01 0.02 12 14 4 0.031 6 0 0 0 0 20.3 95913 chr5 137521241 137521241 A G rs142562832 KIF20A Nonsynonymous SNV Q656R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.08 95914 chr5 13770957 13770957 C T DNAH5 Nonsynonymous SNV R3169H 0.003 0 0 0 4 0 0 0 0 0 0 0 35 95915 chr4 88415387 88415387 C T rs201923671 SPARCL1 Nonsynonymous SNV G64R 0.009 0.003 0 6 10 1 0.015 0 0 0 0 0 14.38 95916 chr4 89326043 89326043 C T rs115213626 HERC6 Nonsynonymous SNV R370C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.028 95917 chr5 140181307 140181310 TGAA - rs141677026 PCDHA3 E176Ifs*20 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 95918 chr5 140187692 140187692 A G rs145409201 PCDHA4 Nonsynonymous SNV Y307C 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 5.736 95919 chr3 193272451 193272454 GTGT - ATP13A4-AS1 0.037 0.044 0 15 44 17 0.038 0 0 0 0 0 95920 chr5 140502252 140502252 G A rs61746592 PCDHB4 Synonymous SNV T224T 0.011 0.005 0.014 3 13 2 0.008 4 0 0 0 0 3.061 95921 chr16 82033584 82033584 T C SDR42E1 Nonsynonymous SNV N105S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.05 95922 chr5 140719224 140719224 G A rs61749056 PCDHGA2 Nonsynonymous SNV C229Y 0.01 0.005 0.003 2 12 2 0.005 1 0 0 0 0 0.001 95923 chr5 140724134 140724134 C T rs182334334 PCDHGA3 Synonymous SNV F178F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.9 95924 chr3 171362746 171362746 T C rs371719444 PLD1 Nonsynonymous SNV T795A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 19.67 95925 chr3 172162982 172162982 C T rs202112906 GHSR Nonsynonymous SNV R357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.2 95926 chr5 140779475 140779475 C T rs141997055 PCDHGB5 Nonsynonymous SNV S594L 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 19.01 95927 chr16 84102011 84102011 C G rs139013412 MBTPS1 Synonymous SNV L668L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12 95928 chr5 1065514 1065514 A G rs56350427 SLC12A7 Nonsynonymous SNV M774T 0.006 0.01 0.007 10 7 4 0.026 2 0 0 0 0 8.764 95929 chr3 132047194 132047194 C G rs202047976 ACP3 Synonymous SNV G68G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 95930 chr4 69107482 69107482 T C rs148342719 TMPRSS11B Nonsynonymous SNV T17A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.126 95931 chr16 84203675 84203675 G T rs142105097 DNAAF1 Nonsynonymous SNV G178V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 1.494 95932 chr16 85695248 85695248 C T rs200767967 GSE1 Nonsynonymous SNV R609W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.2 95933 chr16 85952023 85952023 C T rs144424711 IRF8 Nonsynonymous SNV A211V 0.005 0.008 0.007 8 6 3 0.021 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.322 95934 chr3 183824370 183824370 A G rs78176560 HTR3E Synonymous SNV S446S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.178 95935 chr5 147593516 147593516 G A rs777868855 SPINK6 Nonsynonymous SNV R42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 95936 chr5 148622082 148622082 C A rs61733085 ABLIM3 Synonymous SNV P349P 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 Benign 17.84 95937 chr5 148622085 148622085 G A rs61744926 ABLIM3 Synonymous SNV P350P 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 Benign 14.12 95938 chr3 184023674 184023674 C T PSMD2 Nonsynonymous SNV T423I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 95939 chr3 136701166 136701166 T G rs370557813 IL20RB Nonsynonymous SNV L127R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 95940 chr3 184059894 184059894 C T rs148794859 FAM131A Synonymous SNV T37T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.57 95941 chr5 115168327 115168327 G A rs771321383 ATG12 Nonsynonymous SNV P112L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 95942 chr5 148388420 148388420 C T rs55853803 SH3TC2 Nonsynonymous SNV V1158I 0.021 0.018 0.017 7 25 7 0.018 5 0 0 0 0 Benign 12.7 95943 chr16 87446155 87446155 T C rs148431721 ZCCHC14 Synonymous SNV T724T 0.004 0.005 0 5 5 2 0.013 0 0 0 0 1 0.002 95944 chr4 76842182 76842182 G A rs199640267 NAAA Nonsynonymous SNV S254F 0.01 0.026 0 2 12 10 0.005 0 0 0 0 0 13.69 95945 chr3 141278813 141278813 G T RASA2 Nonsynonymous SNV R280I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 95946 chr4 141403562 141403562 T C rs111869533 MGAT4D Nonsynonymous SNV K58E 0.009 0.013 0 5 10 5 0.013 0 0 0 0 0 2.068 95947 chr4 7006614 7006614 G A TBC1D14 Synonymous SNV R158R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.98 95948 chr3 143691537 143691537 C T rs201166367 DIPK2A Synonymous SNV L121L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.04 95949 chr3 188925207 188925207 G C rs147775571 TPRG1 Nonsynonymous SNV A12P 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 8.05 95950 chr5 149755362 149755362 G A rs75583421 TCOF1 Nonsynonymous SNV V518I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 22.7 95951 chr16 88600520 88600520 C T ZFPM1 Synonymous SNV A718A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.59 95952 chr16 89017560 89017560 - CGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCGCCTGGAC LOC100129697 Frameshift insertion R364Pfs*72 0.001 0 0 2 1 0 0.005 0 0 0 0 0 95953 chr16 89169103 89169103 C T rs762286480 ACSF3 Nonsynonymous SNV A253V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 16.8 95954 chr5 130831342 130831342 A G rs191520477 RAPGEF6 Synonymous SNV I477I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.07 95955 chr16 89813281 89813281 G A FANCA Synonymous SNV H1122H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Likely benign 5.34 95956 chr5 157065635 157065635 C T rs138471751 SOX30 Nonsynonymous SNV V495M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.6 95957 chr4 8376784 8376784 C T rs377720788 ACOX3 Synonymous SNV S583S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.45 95958 chr5 153406861 153406861 G A rs763404178 FAM114A2 Nonsynonymous SNV R152W 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 95959 chr5 137222963 137222963 A G rs758512747 MYOT Synonymous SNV K278K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.513 95960 chr3 40503521 40503529 CTGCTGCTG - rs147295890 RPL14 A157_A159del 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 95961 chr3 40503529 40503529 - CTGCTGCTGCTGCTG RPL14 A159_K160insAAAAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 95962 chr4 8465721 8465721 A G rs79184768 TRMT44 Nonsynonymous SNV I164V 0.016 0.026 0.014 1 19 10 0.003 4 0 0 0 0 3.106 95963 chr4 8608559 8608559 G T rs761452049 CPZ Synonymous SNV R323R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.999 95964 chr4 86916056 86916056 C G rs35521695 ARHGAP24 Nonsynonymous SNV P224A 0.02 0.013 0.024 4 23 5 0.01 7 0 0 0 0 22.8 95965 chr4 16040617 16040617 C T rs76963591 PROM1 Synonymous SNV L76L 0.014 0.013 0.01 5 17 5 0.013 3 1 0 1 0 Benign 7.365 95966 chr4 80975465 80975465 G A rs373292501 ANTXR2 Synonymous SNV V199V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.66 95967 chr4 88035755 88035755 G A rs116537098 AFF1 Synonymous SNV R221R 0.005 0.013 0.01 0 6 5 0 3 0 0 0 0 2.998 95968 chr5 139892433 139892433 A G rs145463284 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV Q1375Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.356 95969 chr3 27763045 27763045 T G EOMES Synonymous SNV A247A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.631 95970 chr4 169317225 169317225 T C rs61995743 DDX60L Nonsynonymous SNV Y1181C 0.007 0.005 0.007 4 8 2 0.01 2 1 1 0 1 5.164 95971 chr17 424897 424897 C T rs753842899 VPS53 Nonsynonymous SNV A723T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 95972 chr5 176289638 176289638 T G UNC5A Nonsynonymous SNV S28R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 95973 chr5 162891798 162891798 C T rs143745216 HMMR Nonsynonymous SNV S72L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.24 95974 chr3 164906320 164906320 A T rs114564937 SLITRK3 Nonsynonymous SNV S767T 0.015 0.016 0.007 3 18 6 0.008 2 0 0 0 0 0.001 95975 chr4 169799378 169799378 - CCA rs201979617 PALLD P116_L117insP 0.001 0 0 1 1 0 0.003 0 0 0 0 0 95976 chr3 37366846 37366846 C G rs996010424 GOLGA4 Nonsynonymous SNV L1157V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.134 95977 chr5 168271591 168271591 G C rs756268296 SLIT3 Nonsynonymous SNV I185M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 95978 chr4 985177 985177 G C rs377636525 SLC26A1 Synonymous SNV S105S 0.01 0.01 0.007 0 12 4 0 2 0 0 0 0 0.076 95979 chr5 177612899 177612899 C A rs138663781 GMCL2 Nonsynonymous SNV V468L 0 0 0.041 0 0 0 0 12 0 0 1 0 3.52 95980 chr5 178017002 178017002 G A rs1015934351 COL23A1 Nonsynonymous SNV A66V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 95981 chr5 140348559 140348559 G A rs17119326 PCDHAC2 Synonymous SNV A736A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 6.085 95982 chr5 171627649 171627649 T C rs200613862 EFCAB9 Nonsynonymous SNV I122T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 95983 chr5 172587020 172587020 G A rs144912663 BNIP1 Synonymous SNV Q118Q 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 9.676 95984 chr5 173416508 173416508 C T rs115473626 C5orf47 Nonsynonymous SNV P81L 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 0.003 95985 chr5 1034875 1034875 T A rs141899564 NKD2 Nonsynonymous SNV M144K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 24.2 95986 chr3 178968568 178968568 A C rs2276802 KCNMB3 Nonsynonymous SNV L71V 0.017 0.013 0.024 8 20 5 0.021 7 0 0 0 0 18.44 95987 chr5 1038423 1038440 CACGAGCACCACCACCAC - rs562708775 NKD2 E438_H443del 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 95988 chr17 4443699 4443699 G A rs766610350 MYBBP1A Synonymous SNV T1126T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.24 95989 chr5 1057738 1057738 G A rs60281693 SLC12A7 Synonymous SNV T958T 0.009 0.029 0.017 1 11 11 0.003 5 0 0 0 0 6.726 95990 chr4 89199397 89199397 G A rs116564150 PPM1K Synonymous SNV F113F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 10.84 95991 chr5 140763615 140763615 C A rs111794989 PCDHGA7 Synonymous SNV T383T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.952 95992 chr5 1064067 1064067 A T rs371776351 SLC12A7 Synonymous SNV R877R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 95993 chr5 179287871 179287871 C T rs17079701 LOC100996419 0 0 0.014 0 0 0 0 4 0 0 0 0 1.515 95994 chr4 90856821 90856821 A G rs62312662 MMRN1 Nonsynonymous SNV T664A 0.013 0.01 0 7 15 4 0.018 0 0 0 0 0 0.002 95995 chr4 187070330 187070330 A G rs182205568 FAM149A Synonymous SNV R190R 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 14.43 95996 chr3 47470025 47470025 G A rs368868479 SCAP Nonsynonymous SNV R130W 0 0 0 2 0 0 0.005 0 0 0 0 0 34 95997 chr4 956355 956355 G A rs777017632 DGKQ Synonymous SNV G694G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.187 95998 chr17 4712435 4712435 A G rs748674984 PLD2 Nonsynonymous SNV R142G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.007 95999 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 96000 chr4 187130349 187130349 G A rs72646291 CYP4V2 Nonsynonymous SNV R443Q 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 31 96001 chr5 141046087 141046087 G T rs141698932 ARAP3 Nonsynonymous SNV L826I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 96002 chr5 14462890 14462890 C T rs17500731 TRIO Synonymous SNV S1841S 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 16.52 96003 chr5 33462212 33462212 G A rs138936240 TARS1 Nonsynonymous SNV G580D 0.01 0.013 0.003 3 12 5 0.008 1 0 0 0 0 Benign 25.6 96004 chr17 3743443 3743443 T C rs202109848 NCBP3 Synonymous SNV V102V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 7.103 96005 chr3 43122465 43122465 G A rs373276653 POMGNT2 Synonymous SNV A153A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 0.837 96006 chr5 145719367 145719367 C T POU4F3 Nonsynonymous SNV T126M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 96007 chr5 110461430 110461430 G A rs144303225 WDR36 Synonymous SNV G881G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.741 96008 chr5 110843028 110843028 G A rs141662799 STARD4 Nonsynonymous SNV T35M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.11 96009 chr5 122426143 122426143 C T PRDM6 Nonsynonymous SNV P145L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26 96010 chr5 35646784 35646784 A G rs80010329 SPEF2 Nonsynonymous SNV R201G 0.013 0.005 0.024 12 15 2 0.031 7 1 0 0 0 24.2 96011 chr5 146258293 146258293 - GCTGCTGCTGCT PPP2R2B S19_C20insSSSS 0.002 0.003 0 0 2 1 0 0 0 0 0 0 96012 chr3 50137526 50137526 C T rs373130406 RBM5-AS1 0.001 0.003 0.01 3 1 1 0.008 3 0 0 0 0 16.94 96013 chr17 7220846 7220846 T C rs144766007 NEURL4 Nonsynonymous SNV M1416V 0.005 0 0.017 2 6 0 0.005 5 0 0 0 0 Benign 4.576 96014 chr3 51968660 51968660 G A rs777248874 RRP9 Synonymous SNV D389D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.95 96015 chr4 2886337 2886337 T C ADD1 Nonsynonymous SNV F152L 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 7.382 96016 chr17 7329865 7329867 GGA - rs566851338 SPEM2 E188del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 96017 chr17 7365691 7365691 T A rs199509690 ZBTB4 Synonymous SNV P870P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.642 96018 chr17 7366843 7366843 G A rs372603900 ZBTB4 Synonymous SNV G486G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.093 96019 chr17 4797558 4797558 C T rs368346071 MINK1 Synonymous SNV T883T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.34 96020 chr4 3317988 3317988 G A rs1030858948 RGS12 Nonsynonymous SNV G31S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 26.6 96021 chr5 118513083 118513083 G T rs757423780 DMXL1 Nonsynonymous SNV V2264L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 96022 chr17 4876203 4876203 A G CAMTA2 Synonymous SNV S790S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 96023 chr5 120021732 120021732 T C PRR16 Synonymous SNV N81N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.03 96024 chr5 45696056 45696056 C A rs544994462 HCN1 Nonsynonymous SNV G47V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 23.7 96025 chr3 194081536 194081536 G A rs758922626 LRRC15 Synonymous SNV L79L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.199 96026 chr3 194371747 194371747 A G rs142038302 LSG1 Nonsynonymous SNV Y428H 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 14.02 96027 chr5 33989265 33989265 C T rs374668256 AMACR Nonsynonymous SNV R361H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.695 96028 chr3 4808290 4808290 T G rs143093165 ITPR1 Nonsynonymous SNV V1811G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 16.44 96029 chr3 48462698 48462698 A T PLXNB1 Synonymous SNV G583G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.216 96030 chr3 48501625 48501625 G A rs142899473 ATRIP Nonsynonymous SNV R298Q 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 29.9 96031 chr5 5464962 5464962 A G rs148407825 ICE1 Nonsynonymous SNV T1839A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 96032 chr17 6930118 6930118 G T rs61739754 BCL6B Synonymous SNV P383P 0.01 0.018 0.01 6 12 7 0.015 3 0 0 0 0 11.19 96033 chr5 54830142 54830142 T C rs2292282 RNF138P1 0 0 0.082 0 0 0 0 24 0 0 12 0 1.301 96034 chr5 55155426 55155426 A G rs778837317 IL31RA Synonymous SNV A32A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 96035 chr5 55202106 55202106 G A rs149333942 IL31RA Synonymous SNV T395T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 96036 chr3 49698075 49698075 G A rs140228596 BSN Nonsynonymous SNV V2933I 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 14.63 96037 chr3 49756825 49756825 C T rs539650449 AMIGO3 Nonsynonymous SNV G25D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 96038 chr17 9783799 9783799 G A rs564939715 GLP2R Nonsynonymous SNV R417Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 34 96039 chr3 49842342 49842342 G A rs771067660 INKA1 Synonymous SNV A233A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.489 96040 chr3 49851015 49851015 T C UBA7 Nonsynonymous SNV Q41R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.89 96041 chr5 151043663 151043663 A G SPARC Nonsynonymous SNV F289L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 96042 chr5 132096568 132096568 C T rs186796869 SEPTIN8 Synonymous SNV A404A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.22 96043 chr5 57790642 57790642 T C rs143566059 GAPT Synonymous SNV Y93Y 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.353 96044 chr17 7311668 7311668 - GCCTCGGCA rs762590868 NLGN2 G37_E38insSLG 0.001 0 0 0 1 0 0 0 0 0 0 0 96045 chr5 132161622 132161622 C G rs201865788 SHROOM1 Nonsynonymous SNV G71R 0.003 0 0 0 3 0 0 0 0 0 0 0 10.58 96046 chr5 139938237 139938237 C T rs145698446 APBB3 Nonsynonymous SNV R472Q 0.014 0.008 0.003 1 16 3 0.003 1 1 0 0 0 25 96047 chr5 132223579 132223579 T C rs34434281 AFF4 Synonymous SNV K964K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 9.625 96048 chr5 132409749 132409749 A C rs115939709 HSPA4 Synonymous SNV V198V 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 5.379 96049 chr5 139940302 139940302 G A rs1800882 APBB3 Synonymous SNV T325T 0.015 0.008 0.003 1 18 3 0.003 1 2 0 0 0 2.335 96050 chr5 134033719 134033719 G A rs200437478 SEC24A Synonymous SNV E746E 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 9.206 96051 chr5 134059261 134059261 A G rs201973255 SEC24A Nonsynonymous SNV D1023G 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 17.93 96052 chr3 62307648 62307648 T A rs147615536 C3orf14 Nonsynonymous SNV L33M 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 9.273 96053 chr17 7462523 7462523 A G rs770542528 TNFSF13 Nonsynonymous SNV Q56R 0.003 0 0 0 4 0 0 0 0 0 0 0 11.44 96054 chr5 140174793 140174793 G C rs199539947 PCDHA2 Nonsynonymous SNV G82R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.7 96055 chr17 7517831 7517831 C A rs372022316 FXR2 Nonsynonymous SNV G7V 0.003 0 0 0 4 0 0 0 0 0 0 0 14.85 96056 chr5 428077 428077 G A rs761363306 AHRR Synonymous SNV L292L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.613 96057 chr5 67494070 67494070 A T rs12658274 LINC02219 0 0 0.099 0 0 0 0 29 0 0 1 0 0.02 96058 chr17 7667348 7667348 - AGTGC rs538321530 DNAH2 Frameshift insertion I1061Cfs*23 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 96059 chr4 47685773 47685773 C T rs372362029 CORIN Synonymous SNV G265G 0.001 0 0 0 1 0 0 0 0 0 0 0 18 96060 chr17 7750178 7750183 ACCACC - rs864309565 KDM6B P263_P264del 0.03 0.029 0.007 6 35 11 0.015 2 6 1 1 0 96061 chr5 159659119 159659119 G A rs746554280 FABP6 Nonsynonymous SNV V28I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.243 96062 chr3 52538507 52538507 C T rs147636423 STAB1 Nonsynonymous SNV A394V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.63 96063 chr3 32995340 32995340 G A rs143876966 CCR4 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.499 96064 chr17 7942814 7942814 C T rs74694725 ALOX15B Synonymous SNV A86A 0.01 0.003 0.007 1 12 1 0.003 2 0 0 0 0 12.41 96065 chr5 13811899 13811899 C T DNAH5 Nonsynonymous SNV E2422K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.48 96066 chr5 140529886 140529886 C T rs143226291 PCDHB6 Synonymous SNV F16F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.443 96067 chr3 52812378 52812378 G A rs150656991 ITIH1 Nonsynonymous SNV R54Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.4 96068 chr5 167927723 167927723 A C rs749574435 RARS1 Nonsynonymous SNV Q317P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 96069 chr5 140772573 140772573 C T rs182052960 PCDHGA8 Nonsynonymous SNV R65C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 33 96070 chr5 141035765 141035765 T C rs140445106 ARAP3 Nonsynonymous SNV T1290A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.54 96071 chr17 18225966 18225966 C T rs761633056 SMCR8 Nonsynonymous SNV A799V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 18.45 96072 chr3 53326534 53326534 A G rs34366563 DCP1A Synonymous SNV P157P 0.034 0.026 0.044 8 40 10 0.021 13 1 0 0 0 0.082 96073 chr5 139938303 139938303 G A rs148938296 APBB3 Nonsynonymous SNV S450F 0.009 0.005 0.014 0 10 2 0 4 0 0 0 0 26.7 96074 chr5 140166171 140166171 G C rs568026611 PCDHA1 Nonsynonymous SNV S99T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.921 96075 chr3 38888524 38888524 G A rs61752574 SCN11A Synonymous SNV R1679R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.226 96076 chr17 19700901 19700901 C T rs148364064 ULK2 Synonymous SNV K539K 0.006 0 0 8 7 0 0.021 0 0 0 0 0 Benign 13.68 96077 chr5 54522718 54522718 C A rs190259474 MCIDAS Synonymous SNV G54G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.46 96078 chr17 8701147 8701147 G A rs143053789 MFSD6L Nonsynonymous SNV T431M 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 0.113 96079 chr5 14488160 14488160 C G rs780299553 TRIO Nonsynonymous SNV P2475A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.4 96080 chr5 171550 171550 C T rs116602351 PLEKHG4B Synonymous SNV R1347R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.72 96081 chr3 9833115 9833115 G A rs138693438 TADA3 Synonymous SNV H12H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 6.972 96082 chr5 145543991 145543991 C T rs146218818 LARS1 Nonsynonymous SNV G113D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.644 96083 chr17 9808426 9808426 C G rs112120832 RCVRN Synonymous SNV S24S 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 12.16 96084 chr3 58140549 58140549 C T rs144628013 FLNB Synonymous SNV G2198G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.69 96085 chr3 58486794 58486794 G C KCTD6 Nonsynonymous SNV R50P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 96086 chr3 41960004 41960004 A G rs56044827 ULK4 Synonymous SNV I224I 0.004 0 0 3 5 0 0.008 0 0 0 0 1 4.902 96087 chr5 7889309 7889309 T A rs886060807 MTRR Nonsynonymous SNV F416L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.673 96088 chr5 79026339 79026339 A C rs200387533 CMYA5 Nonsynonymous SNV E584A 0.003 0 0.014 6 4 0 0.015 4 0 0 0 0 Benign 26.2 96089 chr5 63510277 63510277 G A RNF180 Nonsynonymous SNV R375K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 96090 chr5 176518050 176518050 G A rs149737957 FGFR4 Nonsynonymous SNV R183H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 96091 chr5 79030623 79030623 C T rs201032060 CMYA5 Nonsynonymous SNV S2012F 0.003 0 0.014 6 4 0 0.015 4 0 0 0 0 Benign 22.7 96092 chr3 42706078 42706078 C T rs116538894 ZBTB47 Synonymous SNV N744N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.71 96093 chr5 79617198 79617198 - A rs571319175 SPZ1 Frameshift insertion D391Rfs*5 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 96094 chr5 176894583 176894583 C G DBN1 Nonsynonymous SNV A126P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 96095 chr3 72866432 72866435 ATCA - rs571329853 SHQ1 D277Sfs*27 0.002 0 0 0 2 0 0 0 0 0 0 0 96096 chr3 43121691 43121691 C T rs9811883 POMGNT2 Synonymous SNV Q411Q 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign 5.804 96097 chr3 43122387 43122387 C G rs149932476 POMGNT2 Synonymous SNV L179L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.995 96098 chr17 12656490 12656490 C A rs141965445 MYOCD Nonsynonymous SNV L629I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 29.8 96099 chr5 149776067 149776067 A G rs55980697 TCOF1 Nonsynonymous SNV K1258R 0.005 0.008 0.003 6 6 3 0.015 1 0 0 0 0 Benign/Likely benign 19.11 96100 chr5 8461183 8461183 C T rs79318720 MIR4458HG 0 0 0.01 0 0 0 0 3 0 0 0 0 13.07 96101 chr3 44762392 44762392 T C rs6798400 ZNF502 Nonsynonymous SNV L28P 0.027 0.018 0.02 5 32 7 0.013 6 0 0 0 0 0.173 96102 chr3 44762859 44762859 A G rs80107322 ZNF502 Nonsynonymous SNV T184A 0.029 0.023 0.02 5 34 9 0.013 6 0 0 0 0 0.011 96103 chr4 71469167 71469167 C T rs143940501 AMBN Nonsynonymous SNV A248V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.5 96104 chr3 44762867 44762867 G A rs61740975 ZNF502 Synonymous SNV E186E 0.029 0.023 0.017 5 34 9 0.013 5 0 0 0 0 5.624 96105 chr3 44763287 44763287 C T rs115852283 ZNF502 Synonymous SNV D326D 0.029 0.023 0.014 5 34 9 0.013 4 0 0 0 0 14.2 96106 chr3 44775997 44775997 G A rs72874044 ZNF501 Synonymous SNV G28G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.547 96107 chr3 44776352 44776352 A G rs58211979 ZNF501 Nonsynonymous SNV I147V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.4 96108 chr3 44938212 44938212 T A rs142027211 TGM4 Nonsynonymous SNV N187K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.374 96109 chr5 95297377 95297377 G C ELL2 Nonsynonymous SNV L17V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 96110 chr17 28405431 28405431 G A rs118026417 EFCAB5 Nonsynonymous SNV R979Q 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 19.39 96111 chr5 96077014 96077014 C T rs191204602 CAST Synonymous SNV D184D 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 10.19 96112 chr5 76373023 76373023 G A rs149021152 ZBED3 Synonymous SNV C227C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 96113 chr17 19584971 19584971 C T rs34399035 SLC47A2 Nonsynonymous SNV G393R 0.01 0.008 0.014 4 12 3 0.01 4 0 0 0 0 24.3 96114 chr4 113568436 113568436 C A rs184953760 LARP7 Nonsynonymous SNV T243K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.212 96115 chr5 154395470 154395470 A G rs10056252 KIF4B Nonsynonymous SNV Y684C 0.042 0.044 0.041 13 49 17 0.033 12 0 0 0 1 17.05 96116 chr5 7826853 7826853 G A rs79684971 ADCY2 Nonsynonymous SNV V1049I 0.024 0.026 0.014 5 28 10 0.013 4 1 0 0 0 0.004 96117 chr5 156514243 156514243 C T rs138681649 HAVCR2 Nonsynonymous SNV R259H 0.007 0.013 0.003 4 8 5 0.01 1 0 0 0 0 14.43 96118 chr5 78532892 78532892 T C rs373421363 JMY Nonsynonymous SNV L140P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 96119 chr5 157158618 157158618 T C THG1L Nonsynonymous SNV L57P 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 34 96120 chr3 4714841 4714841 G A rs41289636 ITPR1 Synonymous SNV A727A 0.009 0.008 0.017 10 11 3 0.026 5 0 0 0 0 Benign/Likely benign 10.37 96121 chr17 34072896 34072896 G A rs144128342 GAS2L2 Synonymous SNV A540A 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 10.47 96122 chr6 109665191 109665191 C T rs10457191 CCDC162P 0 0 0.065 0 0 0 0 19 0 0 1 0 12.58 96123 chr5 149753894 149753894 G A rs144327167 TCOF1 Nonsynonymous SNV S266N 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 23.4 96124 chr4 1018328 1018328 C T rs147385493 FGFRL1 Synonymous SNV D316D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 5.902 96125 chr4 122737965 122737965 G C rs1051881 EXOSC9 Nonsynonymous SNV S425T 0.02 0.008 0.034 1 23 3 0.003 10 2 0 0 0 15.2 96126 chr5 79773132 79773132 C A rs16877836 ZFYVE16 Nonsynonymous SNV T1519N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.4 96127 chr5 33588848 33588848 G C rs772553184 ADAMTS12 Synonymous SNV T822T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.324 96128 chr3 48414274 48414274 C T rs17080138 FBXW12 Nonsynonymous SNV P6L 0.014 0.016 0.007 6 17 6 0.015 2 1 0 0 0 23.6 96129 chr4 123236788 123236788 T C rs776303118 KIAA1109 Nonsynonymous SNV I3495T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.81 96130 chr5 167882381 167882381 G A rs138424802 WWC1 Synonymous SNV T893T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 96131 chr17 36489257 36489257 G A rs375381938 GPR179 Synonymous SNV P638P 0.008 0 0 2 9 0 0.005 0 0 0 0 0 2.467 96132 chr5 168112707 168112707 G A rs72839508 SLIT3 Synonymous SNV A1187A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.89 96133 chr4 84227453 84227453 C T rs138882001 HPSE Nonsynonymous SNV G312D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 34 96134 chr5 89979522 89979522 C T rs199605700 ADGRV1 Synonymous SNV S1928S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 9.129 96135 chr5 169533079 169533079 G A rs369758264 FOXI1 Nonsynonymous SNV G40S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.103 96136 chr5 169533450 169533450 C T rs377178658 FOXI1 Synonymous SNV S163S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.5 96137 chr5 36677227 36677227 G A rs1040061193 SLC1A3 Synonymous SNV L221L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.138 96138 chr5 36986070 36986070 A C NIPBL Nonsynonymous SNV T930P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.192 96139 chr5 9063097 9063097 C T rs770636604 SEMA5A Nonsynonymous SNV R807Q 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 35 96140 chr5 38876442 38876442 C T rs954556428 OSMR Synonymous SNV I71I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 96141 chr3 49463397 49463397 T C rs148743870 NICN1 Synonymous SNV L114L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.632 96142 chr17 26715479 26715479 G T SARM1 Nonsynonymous SNV R614L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 33 96143 chr5 94030946 94030946 C G rs550148252 SLF1 Nonsynonymous SNV P1036A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 23.1 96144 chr3 49689167 49689167 G C rs150207451 BSN Nonsynonymous SNV K726N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.61 96145 chr5 150947128 150947128 G A rs34166097 FAT2 Synonymous SNV A455A 0.013 0.01 0.034 1 15 4 0.003 10 0 0 0 0 2.15 96146 chr3 50326729 50326729 C T rs200964278 IFRD2 Nonsynonymous SNV G345D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 28.4 96147 chr5 176915244 176915244 C T rs145726499 PDLIM7 Nonsynonymous SNV R292H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27 96148 chr4 141832316 141832316 C T rs115535556 RNF150 Nonsynonymous SNV V394I 0.006 0.013 0.003 7 7 5 0.018 1 0 0 0 0 14.81 96149 chr17 29654671 29654671 C T rs760649828 NF1 Nonsynonymous SNV T1787M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 27.5 96150 chr3 51743429 51743429 T G rs149255850 GRM2 Nonsynonymous SNV Y144D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 96151 chr4 89013496 89013496 C T rs34783571 ABCG2 Nonsynonymous SNV D620N 0.009 0.016 0.007 4 10 6 0.01 2 0 0 0 0 23 96152 chr4 89425507 89425507 G A rs141622783 HERC5 Nonsynonymous SNV E903K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 96153 chr5 161117243 161117243 A G rs76773579 GABRA6 Nonsynonymous SNV Q237R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Likely benign 23.2 96154 chr6 10704808 10704808 A G rs201625393 PAK1IP1 Nonsynonymous SNV I189V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.142 96155 chr5 179280392 179280392 G A rs112867427 MRNIP Stop gain Q38X 0.007 0.01 0.003 7 8 4 0.018 1 0 0 0 0 37 96156 chr17 34171971 34171971 C T rs145849645 TAF15 Synonymous SNV G553G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 17.54 96157 chr6 10927539 10927539 C G rs181955458 SYCP2L Nonsynonymous SNV T460S 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 14.81 96158 chr4 9922112 9922112 C T rs145688560 SLC2A9 Nonsynonymous SNV R300H 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 Benign/Likely benign 15.54 96159 chr17 39535305 39535305 G A rs61740668 KRT34 Nonsynonymous SNV R376W 0.015 0.005 0 7 18 2 0.018 0 0 0 0 0 34 96160 chr5 180219414 180219414 C T MGAT1 Synonymous SNV A186A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.59 96161 chr6 13711441 13711441 G A rs551414597 RANBP9 Synonymous SNV A99A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.674 96162 chr17 35992182 35992182 A T rs61749871 DDX52 Synonymous SNV P188P 0.011 0.005 0.003 4 13 2 0.01 1 0 0 0 0 0.312 96163 chr5 169508882 169508882 A G rs58570833 DOCK2 Nonsynonymous SNV D1775G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 16.34 96164 chr3 54905597 54905597 A G rs201056137 CACNA2D3 Nonsynonymous SNV N553S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 18.47 96165 chr3 55768836 55768836 C T rs376427949 ERC2 Nonsynonymous SNV R890Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 96166 chr5 61857063 61857063 C T rs145750694 IPO11 Nonsynonymous SNV S894F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 96167 chr17 39659321 39659321 G A rs147564962 KRT13 Synonymous SNV V255V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 11.99 96168 chr6 143095633 143095633 C G rs62430681 HIVEP2 Nonsynonymous SNV E81D 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 12.81 96169 chr5 108203596 108203596 C T FER Nonsynonymous SNV L29F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 96170 chr5 22078606 22078606 T C rs142320441 CDH12 Synonymous SNV Q60Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 0.279 96171 chr5 66441069 66441069 G A rs55969676 MAST4 Nonsynonymous SNV E792K 0.006 0 0.003 0 7 0 0 1 0 0 0 0 28.2 96172 chr5 176071408 176071408 C T rs368584564 EIF4E1B Nonsynonymous SNV L110F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 96173 chr6 116558149 116558149 G A rs755035292 NT5DC1 Nonsynonymous SNV A275T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 10.86 96174 chr6 116720429 116720429 C T rs778735094 DSE Nonsynonymous SNV R6W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 96175 chr4 155156875 155156875 T G rs61746101 DCHS2 Nonsynonymous SNV N2977H 0.009 0.01 0.014 2 10 4 0.005 4 0 0 0 0 25.4 96176 chr5 68805114 68805114 G T rs116363086 OCLN Nonsynonymous SNV R66L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 30 96177 chr6 150710632 150710632 A G rs111758467 IYD Nonsynonymous SNV N108S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 1.19 96178 chr4 155158104 155158104 G A rs17031279 DCHS2 Nonsynonymous SNV T2567M 0.009 0.01 0.014 2 10 4 0.005 4 0 0 0 0 23.7 96179 chr4 155158259 155158259 - GTT rs138652483 DCHS2 T2515_Q2516insT 0.009 0.01 0.014 2 10 4 0.005 4 0 0 0 0 96180 chr5 34869025 34869025 G A rs148933690 TTC23L Nonsynonymous SNV V295I 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 19.31 96181 chr5 35039464 35039464 G A rs201752897 AGXT2 Synonymous SNV S109S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.39 96182 chr5 177422839 177422839 C T rs144314831 PROP1 Synonymous SNV P32P 0.014 0.003 0 5 17 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.16 96183 chr5 115389780 115389780 C T rs748492536 ARL14EPL Nonsynonymous SNV P56S 0.006 0.008 0 0 7 3 0 0 0 0 0 0 27.8 96184 chr4 156874908 156874908 G C rs947065360 CTSO Nonsynonymous SNV P31R 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 0.007 96185 chr6 12164142 12164142 C T rs1047584796 HIVEP1 Synonymous SNV P2535P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 96186 chr4 163032524 163032524 A G rs375562032 FSTL5 Synonymous SNV L9L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.033 96187 chr6 157099312 157099312 - CAC rs762287165 ARID1B H89_A90insH 0 0 0.003 0 0 0 0 1 0 0 0 0 96188 chr6 128311998 128311998 A G rs755302831 PTPRK Synonymous SNV T1003T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.487 96189 chr3 97591990 97591990 A C rs180695872 CRYBG3 Nonsynonymous SNV N651T 0.012 0.01 0.014 3 14 4 0.008 4 0 0 0 0 0.342 96190 chr6 158957762 158957762 G T rs767353947 TMEM181 Nonsynonymous SNV R95L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.24 96191 chr17 43216450 43216450 C G ACBD4 Nonsynonymous SNV R238G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 96192 chr3 97851751 97851751 T G rs113841133 OR5H1 Nonsynonymous SNV D70E 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 22.5 96193 chr3 97851896 97851896 G A rs75688383 OR5H1 Nonsynonymous SNV A119T 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 25 96194 chr5 180432815 180432815 G A rs374066403 BTNL3 Synonymous SNV A448A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 7.501 96195 chr5 43700246 43700246 C A rs146831958 NNT Synonymous SNV R837R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 19.84 96196 chr3 97852211 97852211 G A rs72926074 OR5H1 Nonsynonymous SNV A224T 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 0.013 96197 chr3 97887599 97887599 A T rs146245474 OR5H15 Nonsynonymous SNV Y19F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.362 96198 chr5 131008257 131008257 T C rs780142478 FNIP1 Nonsynonymous SNV Q599R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 96199 chr5 132015555 132015555 C T rs35648164 IL4 Synonymous SNV D95D 0.023 0.016 0.014 1 27 6 0.003 4 0 0 0 0 Benign 10.41 96200 chr17 39394729 39394729 C A rs146488039 KRTAP9-8 Synonymous SNV T142T 0.014 0.023 0.003 9 17 9 0.023 1 0 0 0 0 12.61 96201 chr3 9851971 9851971 G T rs768805142 TTLL3 Nonsynonymous SNV S94I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.17 96202 chr5 21752255 21752255 T A rs143993546 CDH12 Nonsynonymous SNV H435L 0.016 0.003 0.003 0 19 1 0 1 0 0 0 0 22.2 96203 chr5 52403014 52403014 G A rs146074751 MOCS2 Nonsynonymous SNV R60C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.1 96204 chr17 39580630 39580630 A G rs986869730 KRT37 Nonsynonymous SNV V49A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.155 96205 chr5 32074173 32074173 G A rs79901850 PDZD2 Synonymous SNV G987G 0.032 0.026 0.01 9 37 10 0.023 3 2 0 0 0 7.751 96206 chr5 32087326 32087326 C A rs3101878 PDZD2 Nonsynonymous SNV Q1258K 0.029 0.026 0.01 9 34 10 0.023 3 1 0 0 0 0.056 96207 chr6 160679784 160679784 G - rs750602203 SLC22A2 T3Pfs*57 0 0 0.003 0 0 0 0 1 0 0 0 0 96208 chr5 32087430 32087430 G A rs3135427 PDZD2 Synonymous SNV P1292P 0.029 0.026 0.01 9 34 10 0.023 3 1 0 0 0 5.71 96209 chr5 32088500 32088500 C T rs3101873 PDZD2 Nonsynonymous SNV A1649V 0.029 0.026 0.01 9 34 10 0.023 3 1 0 0 0 13.01 96210 chr4 183594243 183594243 T C rs192736990 TENM3 Synonymous SNV P399P 0.009 0.013 0.007 3 11 5 0.008 2 0 0 0 0 Benign 2.614 96211 chr6 166780317 166780317 C G MPC1 Nonsynonymous SNV K3N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 96212 chr5 90087089 90087089 G A rs1047853698 ADGRV1 Nonsynonymous SNV E4815K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 96213 chr4 106156485 106156485 T C rs747244398 TET2 Synonymous SNV S462S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.039 96214 chr6 168070084 168070084 G A rs113806172 LINC02538 0 0 0.024 0 0 0 0 7 0 0 0 0 0.69 96215 chr6 168226523 168226523 C T rs611440 AFDN-DT 0 0 0.099 0 0 0 0 29 0 0 1 0 9.582 96216 chr6 146755360 146755360 G A rs1018640655 GRM1 Nonsynonymous SNV A1005T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.625 96217 chr5 61847103 61847103 A G rs61748228 IPO11 Synonymous SNV L840L 0.032 0.021 0.01 11 37 8 0.028 3 0 0 0 1 Benign 8.285 96218 chr5 64096100 64096100 G C rs775286015 CWC27 Nonsynonymous SNV S232T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 96219 chr17 56056604 56056604 - TGCTGCTGC VEZF1 Q354_H355insQQQ 0 0 0 2 0 0 0.005 0 0 0 0 0 96220 chr6 151161313 151161313 G A rs41289351 PLEKHG1 Nonsynonymous SNV V1108M 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.2 96221 chr17 40574948 40574948 G T rs139531639 CAVIN1 Nonsynonymous SNV S56R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 96222 chr4 2933190 2933190 G A rs376864708 MFSD10 Nonsynonymous SNV P306L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.378 96223 chr6 151789799 151789799 A G rs200525816 ARMT1 Nonsynonymous SNV I175V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 96224 chr4 111441439 111441439 C T rs201367483 ENPEP Synonymous SNV N548N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.425 96225 chr4 187510280 187510280 G A rs3775307 FAT1 Synonymous SNV P4411P 0.018 0.008 0.017 5 21 3 0.013 5 0 0 0 0 9.436 96226 chr4 3076604 3076630 CAGCAGCAGCAGCAGCAGCAGCAGCAG - HTT Q30_Q38del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 96227 chr4 187517758 187517758 G A rs3822060 FAT1 Synonymous SNV P4312P 0.018 0.008 0.017 5 21 3 0.013 5 0 0 0 0 0.042 96228 chr17 41367917 41367917 C T TMEM106A Nonsynonymous SNV S129F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 96229 chr4 187522528 187522528 C T rs2289550 FAT1 Synonymous SNV T3845T 0.018 0.008 0.017 5 21 3 0.013 5 0 0 0 0 18.51 96230 chr6 152708232 152708232 A G rs202207690 SYNE1 Nonsynonymous SNV F2828S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 96231 chr6 100896474 100896474 C T rs753737612 SIM1 Synonymous SNV V208V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.35 96232 chr4 187542262 187542262 A T FAT1 Synonymous SNV T1826T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.231 96233 chr6 155054937 155054937 C T rs780927450 SCAF8 Nonsynonymous SNV S46F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 96234 chr17 42940215 42940215 G A rs149288120 EFTUD2 Synonymous SNV H456H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.519 96235 chr5 41203190 41203190 C T rs145422926 C6 Nonsynonymous SNV R48K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.3 96236 chr4 1987849 1987849 T C rs150291014 NELFA Nonsynonymous SNV K276R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.89 96237 chr6 159457398 159457398 T C TAGAP Nonsynonymous SNV I490V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.063 96238 chr4 123542084 123542084 C T rs775921061 IL21 Nonsynonymous SNV S28N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 3.819 96239 chr4 25235875 25235875 A C rs61748740 PI4K2B Synonymous SNV L30L 0.005 0.005 0.014 4 6 2 0.01 4 0 0 0 0 3.017 96240 chr4 123855513 123855513 T C rs55643281 SPATA5 Nonsynonymous SNV I255T 0.017 0.013 0.007 5 20 5 0.013 2 0 0 0 0 Benign 0.002 96241 chr17 63633295 63633295 C A rs75033823 CEP112 Synonymous SNV L193L 0.009 0.005 0 6 10 2 0.015 0 1 0 0 0 Benign 17.38 96242 chr5 140788107 140788107 C T rs201370009 PCDHGB6 Nonsynonymous SNV P113L 0.019 0.01 0.003 8 22 4 0.021 1 0 0 0 0 26.2 96243 chr5 78426914 78426914 A - rs763726268 BHMT K400Nfs*15 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 96244 chr6 110112639 110112639 G A rs148589135 FIG4 Synonymous SNV P747P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.84 96245 chr4 40946962 40946962 C T rs573666516 APBB2 Nonsynonymous SNV V321I 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 10.33 96246 chr17 65907707 65907707 C A BPTF Nonsynonymous SNV P1236Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 96247 chr6 32609873 32609873 G C rs707950 HLA-DQA1 Nonsynonymous SNV Q152H 0.009 0.013 0.014 3 11 5 0.008 4 0 0 0 0 0.01 96248 chr6 32609874 32609874 T G rs41547417 HLA-DQA1 Nonsynonymous SNV S153A 0.009 0.013 0.014 3 11 5 0.008 4 0 0 0 0 0.142 96249 chr6 11105188 11105188 A C ERVFRD-1 Nonsynonymous SNV L119R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 96250 chr6 32627747 32627747 A G rs1049225 HLA-DQB1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.124 96251 chr6 32627795 32627795 A G rs1766 HLA-DQB1-AS1 0 0 0.088 0 0 0 0 26 0 0 10 0 0.046 96252 chr4 128841860 128841860 G A MFSD8 Synonymous SNV L389L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.499 96253 chr17 67014674 67014674 G C rs150463540 ABCA9 Nonsynonymous SNV L883V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.024 96254 chr17 67014706 67014706 C G ABCA9 Nonsynonymous SNV G872A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.357 96255 chr6 32629889 32629889 G A rs1049087 HLA-DQB1 Synonymous SNV A172A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.723 96256 chr6 32629904 32629904 A G rs1049086 HLA-DQB1 Synonymous SNV D167D 0.008 0.003 0.003 4 9 1 0.01 1 1 0 0 1 0.028 96257 chr4 466474 466474 C T ABCA11P 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 7.68 96258 chr5 60199433 60199433 G A rs369365521 ERCC8 Stop gain R198X 0.006 0 0 1 7 0 0.003 0 0 0 0 0 14.8 96259 chr5 82808072 82808072 C T rs2652098 VCAN Nonsynonymous SNV S300L 0.007 0.005 0.014 5 8 2 0.013 4 0 0 0 0 Benign 5.183 96260 chr5 82815648 82815648 T A rs143368552 VCAN Nonsynonymous SNV I508N 0.005 0.003 0.014 3 6 1 0.008 4 0 0 0 0 Benign/Likely benign 4.23 96261 chr5 146258293 146258293 - GCTGCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 96262 chr17 71165519 71165519 C T rs761265807 SSTR2 Nonsynonymous SNV L21F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 96263 chr4 4861879 4861879 G A MSX1 Nonsynonymous SNV G85S 0.003 0.005 0 5 3 2 0.013 0 0 0 0 1 10.68 96264 chr6 163735945 163735945 C T rs34421506 PACRG Nonsynonymous SNV R234C 0.004 0.01 0.003 9 5 4 0.023 1 0 0 0 0 32 96265 chr17 48703791 48703791 C T rs59641941 CACNA1G Synonymous SNV A2144A 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 14.07 96266 chr5 86707121 86707121 T C rs3093785 CCNH Star tloss M1? 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 5.268 96267 chr5 90016771 90016771 G A rs199499672 ADGRV1 Nonsynonymous SNV E3215K 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Uncertain significance 25.2 96268 chr6 119238904 119238904 C T rs41292552 MCM9 Synonymous SNV G242G 0.015 0.018 0.007 3 18 7 0.008 2 0 0 0 0 9.932 96269 chr5 148639107 148639107 A G rs534581717 ABLIM3 0.007 0 0.017 3 8 0 0.008 5 0 0 0 0 0.606 96270 chr17 72350440 72350440 C G rs369720899 KIF19 Nonsynonymous SNV S816R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.8 96271 chr5 148754059 148754059 A G rs745574528 IL17B Nonsynonymous SNV V87A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.9 96272 chr17 72350488 72350488 G A rs61748941 KIF19 Synonymous SNV P832P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 11.08 96273 chr17 72350663 72350663 C T rs61746578 KIF19 Nonsynonymous SNV R891W 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 34 96274 chr5 72427404 72427404 C T rs61746311 TMEM171 Synonymous SNV D273D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.145 96275 chr5 149495482 149495482 G A rs375352303 PDGFRB Synonymous SNV S991S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.8 96276 chr6 170144340 170144340 C T rs368171737 TCTE3 Nonsynonymous SNV E51K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 96277 chr4 57522078 57522078 G A rs377535171 HOPX Nonsynonymous SNV S30F 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 22.9 96278 chr5 149740772 149740772 A G rs73270831 TCOF1 Synonymous SNV Q54Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 14.89 96279 chr17 72860100 72860100 G A rs33991203 FDXR Synonymous SNV S324S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 8.394 96280 chr5 149753777 149753777 C T rs144193760 TCOF1 Nonsynonymous SNV S227L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 96281 chr17 72861057 72861057 G C rs35102176 FDXR Nonsynonymous SNV C208W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 13 96282 chr5 149756088 149756088 C T rs73270846 TCOF1 Nonsynonymous SNV P672S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 22.6 96283 chr6 36641941 36641941 T C rs4711458 PANDAR 0 0 0.122 0 0 0 0 36 0 0 4 0 1.246 96284 chr6 36642024 36642024 T C rs4711459 PANDAR 0 0 0.119 0 0 0 0 35 0 0 4 0 0.197 96285 chr6 36642128 36642128 C A rs4711460 PANDAR 0 0 0.112 0 0 0 0 33 0 0 4 0 8.576 96286 chr6 36642168 36642168 C T rs4711461 PANDAR 0 0 0.119 0 0 0 0 35 0 0 4 0 8.529 96287 chr17 59560528 59560528 G A TBX4 Nonsynonymous SNV S430N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 96288 chr6 36642186 36642186 T G rs4714002 PANDAR 0 0 0.122 0 0 0 0 36 0 0 4 0 4.778 96289 chr6 36642190 36642190 A G rs4711462 PANDAR 0 0 0.126 0 0 0 0 37 0 0 4 0 4.92 96290 chr6 18208415 18208415 G A rs72840622 KDM1B Nonsynonymous SNV G383D 0.018 0.018 0.003 1 21 7 0.003 1 0 0 0 0 23.8 96291 chr17 60742303 60742303 C G rs950665962 MRC2 Synonymous SNV P171P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.65 96292 chr17 73126610 73126610 G C NT5C Nonsynonymous SNV S153R 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 28.9 96293 chr5 76373194 76373194 C T ZBED3 Synonymous SNV A170A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.54 96294 chr4 6302713 6302713 C T rs201394228 WFS1 Synonymous SNV F397F 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 11.25 96295 chr17 62499163 62499163 C T rs56025355 DDX5 Synonymous SNV Q288Q 0.011 0.003 0.01 1 13 1 0.003 3 0 0 0 0 10.03 96296 chr4 6606997 6606997 C T rs149325410 MAN2B2 Synonymous SNV N534N 0.009 0.008 0.01 7 10 3 0.018 3 0 0 0 0 17.52 96297 chr6 134496722 134496722 C T rs745871016 SGK1 Synonymous SNV E26E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 96298 chr6 135290440 135290440 C T rs201836642 HBS1L Nonsynonymous SNV V570I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 96299 chr6 107475979 107475979 C A PDSS2 Nonsynonymous SNV L348F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 96300 chr5 79026010 79026010 C A rs770988644 CMYA5 Synonymous SNV T474T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 13.58 96301 chr6 13604710 13604710 A T rs41273886 SIRT5 Nonsynonymous SNV H287L 0.012 0.008 0.007 2 14 3 0.005 2 0 0 0 0 0.561 96302 chr6 41753921 41753921 A G rs765706813 PRICKLE4 Nonsynonymous SNV H213R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 96303 chr4 5461848 5461848 G A rs146714972 STK32B Nonsynonymous SNV E238K 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 20.6 96304 chr17 74006403 74006403 C G rs148533039 EVPL Nonsynonymous SNV E983D 0.003 0.003 0.01 5 4 1 0.013 3 0 0 0 0 23.9 96305 chr17 66981048 66981048 G T rs148927389 ABCA9 Nonsynonymous SNV P1453T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.7 96306 chr6 26385438 26385438 G A rs144702884 BTN2A2 Nonsynonymous SNV R97Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.17 96307 chr6 139563937 139563937 G A rs142843391 TXLNB Nonsynonymous SNV P594L 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 5.512 96308 chr17 74079782 74079782 C T rs754676259 EXOC7 Nonsynonymous SNV G637R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.41 96309 chr17 74274216 74274216 G A rs752510976 QRICH2 Synonymous SNV S1491S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.01 96310 chr4 70513199 70513199 G A rs113894762 UGT2A1 Nonsynonymous SNV A55V 0.005 0 0.007 4 6 0 0.01 2 0 0 0 0 Benign 13.58 96311 chr6 143825146 143825146 T A rs148846110 FUCA2 Nonsynonymous SNV N219I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 96312 chr6 27840982 27840982 C T rs45526033 H4C13 Nonsynonymous SNV G103S 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 24.2 96313 chr5 160115007 160115007 C T rs201071012 ATP10B Synonymous SNV S69S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.73 96314 chr6 43273838 43273838 C T rs777408235 CRIP3 Nonsynonymous SNV V130I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 96315 chr5 162036 162036 C T rs372619983 PLEKHG4B Nonsynonymous SNV R876C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 96316 chr17 71364577 71364577 G A rs139535646 SDK2 Synonymous SNV S1712S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.768 96317 chr4 5990228 5990228 G A rs760968901 C4orf50 Nonsynonymous SNV S1003L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 96318 chr17 71384151 71384151 C T rs147384840 SDK2 Synonymous SNV P1406P 0.007 0.008 0.01 0 8 3 0 3 0 0 0 0 7.351 96319 chr17 71747304 71747304 C G rs547691955 LOC100134391 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 4.808 96320 chr4 76521525 76521525 C T rs56229013 CDKL2 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 0 25.3 96321 chr4 619767 619767 G A rs201253138 PDE6B Nonsynonymous SNV V118I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.537 96322 chr17 76482323 76482323 C T rs377570773 DNAH17 Nonsynonymous SNV A2362T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 96323 chr5 167855754 167855754 G A rs111786530 WWC1 Synonymous SNV S654S 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 15.9 96324 chr6 45515007 45515007 G A rs11498198 RUNX2 Nonsynonymous SNV G475S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 24.8 96325 chr6 151671920 151671920 C T rs140093591 AKAP12 Synonymous SNV P693P 0.007 0 0.007 2 8 0 0.005 2 0 0 0 0 Benign 10.08 96326 chr5 169412872 169412872 T C rs148694888 DOCK2 Nonsynonymous SNV I980T 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 Likely benign 26.4 96327 chr17 76809019 76809019 C T rs117840411 USP36 Nonsynonymous SNV G444S 0.01 0.016 0.007 4 12 6 0.01 2 0 0 0 0 Benign 0.042 96328 chr4 675777 675777 G C rs76052398 MYL5, SLC49A3 Nonsynonymous SNV E172D 0.014 0.008 0.02 5 17 3 0.013 6 0 0 0 0 1.244 96329 chr4 185689575 185689575 G A rs771970470 ACSL1 Synonymous SNV I307I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 96330 chr4 682880 682880 C T rs200792845 SLC49A3 Nonsynonymous SNV E13K 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 18.32 96331 chr4 68380235 68380235 G A rs367801598 CENPC Nonsynonymous SNV P334L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 96332 chr4 80246435 80246435 G C rs145580127 NAA11 Synonymous SNV T199T 0.005 0.008 0.003 5 6 3 0.013 1 0 0 0 1 5.699 96333 chr17 73559543 73559543 C T rs141041567 LLGL2 Synonymous SNV Y275Y 0.007 0.008 0 0 8 3 0 0 0 0 0 0 5.807 96334 chr17 78313281 78313281 C A rs147868237 RNF213 Nonsynonymous SNV T1705K 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Benign 32 96335 chr6 129371205 129371205 C T rs142083777 LAMA2 Synonymous SNV I85I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.14 96336 chr4 187630905 187630905 C T rs75367100 FAT1 Nonsynonymous SNV R26Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.32 96337 chr6 11190359 11190359 G A rs143967808 NEDD9 Synonymous SNV H432H 0.005 0.01 0.014 1 6 4 0.003 4 0 0 0 0 Benign 0.017 96338 chr6 131222201 131222201 G A rs41285324 EPB41L2 Nonsynonymous SNV P350L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 29.6 96339 chr6 54806202 54806202 T C FAM83B Synonymous SNV G811G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.155 96340 chr6 41766433 41766433 C T rs146374967 USP49 Synonymous SNV G635G 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 13.77 96341 chr17 79205421 79205421 G A rs61745945 TEPSIN Nonsynonymous SNV R258C 0.012 0.013 0.01 12 14 5 0.031 3 0 0 0 0 17.9 96342 chr4 23814398 23814398 T C rs139102065 PPARGC1A Nonsynonymous SNV Q537R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.67 96343 chr17 79496010 79496010 C T rs73367596 FSCN2 Synonymous SNV Y151Y 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 Benign 10.17 96344 chr6 57012205 57012205 G C ZNF451 Nonsynonymous SNV C441S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.181 96345 chr17 79503235 79503235 C T rs73369203 FSCN2 Synonymous SNV N349N 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 Benign 13.91 96346 chr6 137323081 137323081 A G rs149273640 IL20RA Nonsynonymous SNV S315P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.696 96347 chr17 79974815 79974815 A G rs143008575 ASPSCR1 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 18.87 96348 chr17 80041753 80041753 G A rs766947051 FASN Nonsynonymous SNV R1705W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 29.6 96349 chr4 2746146 2746146 C T rs143796684 TNIP2 Nonsynonymous SNV A249T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.922 96350 chr5 192288 192288 C T rs200879560 LRRC14B Nonsynonymous SNV A212V 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 1.981 96351 chr6 43325390 43325390 T A rs149141877 ZNF318 Nonsynonymous SNV D221V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 96352 chr5 192473 192473 G C rs151096925 LRRC14B Nonsynonymous SNV E274Q 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 1.441 96353 chr4 2930006 2930006 T C rs763556415 ADD1 Nonsynonymous SNV M657T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 96354 chr6 43618222 43618222 A T RSPH9 Nonsynonymous SNV H113L 0.005 0 0 0 6 0 0 0 0 0 0 0 23.5 96355 chr6 71235852 71235852 G A rs148680219 FAM135A Nonsynonymous SNV G793D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.59 96356 chr6 147055043 147055043 G A rs61742778 ADGB Nonsynonymous SNV V891I 0.013 0.018 0 4 15 7 0.01 0 0 0 0 0 0.049 96357 chr17 76548866 76548866 C T rs61745194 DNAH17 Nonsynonymous SNV V734I 0.014 0.021 0.027 7 16 8 0.018 8 1 1 0 0 23.8 96358 chr17 80332555 80332555 G A rs747975556 UTS2R Nonsynonymous SNV G119R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 96359 chr4 3176786 3176786 G A HTT Synonymous SNV A1453A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 96360 chr6 126073212 126073212 T G rs112235907 HEY2 Synonymous SNV L74L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 0.182 96361 chr4 8098874 8098874 G A rs777382045 ABLIM2 Nonsynonymous SNV A97V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 96362 chr17 80897350 80897350 G A rs555930183 TBCD Synonymous SNV A1159A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 2.854 96363 chr6 161488325 161488325 A T MAP3K4 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.391 96364 chr6 150005250 150005250 A G rs56246065 LATS1 Synonymous SNV V45V 0.009 0.01 0.01 8 11 4 0.021 3 0 0 0 0 1.098 96365 chr17 78078581 78078581 C T rs371971763 GAA Nonsynonymous SNV R66W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.21 96366 chr6 16327915 16327915 - TGCTGCTGCTGC ATXN1 Q208_H209insQQQQ 0.002 0.005 0 0 2 2 0 0 0 0 0 0 96367 chr6 129468115 129468115 G A rs765960304 LAMA2 Synonymous SNV S277S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Uncertain significance 10.95 96368 chr6 166831722 166831722 G A rs149521975 RPS6KA2 Synonymous SNV D545D 0.004 0 0 0 5 0 0 0 0 0 0 0 5.17 96369 chr17 78184903 78184903 C T rs186827026 SGSH Nonsynonymous SNV G345R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 5.2 96370 chr4 367291 367291 T C ZNF141 Synonymous SNV N279N 0.005 0 0 0 6 0 0 0 0 0 0 0 6.019 96371 chr6 75814950 75814950 A G rs34369939 COL12A1 Nonsynonymous SNV V1582A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 22 96372 chr6 151239733 151239733 C T rs190251947 MTHFD1L Nonsynonymous SNV P306S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 96373 chr6 1313694 1313694 G C rs758384866 FOXQ1 Nonsynonymous SNV R252P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.13 96374 chr4 84205748 84205748 C G rs550949678 COQ2 Nonsynonymous SNV S57T 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Likely benign 18.35 96375 chr5 10638162 10638162 C T rs759479380 ANKRD33B Synonymous SNV Y173Y 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 12.11 96376 chr6 170160777 170160777 T C rs201697973 ERMARD Nonsynonymous SNV M135T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 96377 chr5 107717246 107717246 C T rs186842274 FBXL17 Synonymous SNV R49R 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 14.12 96378 chr6 135363243 135363243 C T rs371994838 HBS1L Nonsynonymous SNV R44Q 0.005 0.003 0 2 6 1 0.005 0 1 0 0 0 23.3 96379 chr6 51484226 51484226 C T rs34548196 PKHD1 Nonsynonymous SNV V3960I 0.025 0.021 0.02 16 29 8 0.041 6 1 0 0 0 Benign/Likely benign 2.128 96380 chr6 137187853 137187853 C T rs147298444 PEX7 Synonymous SNV D205D 0.005 0.003 0 3 6 1 0.008 0 1 0 0 0 Conflicting interpretations of pathogenicity 12.49 96381 chr17 79495606 79495606 G A rs137853900 FSCN2 Nonsynonymous SNV V17I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 0.001 96382 chr6 17773790 17773790 T C rs17689215 KIF13A Nonsynonymous SNV M1402V 0.014 0.008 0.02 5 16 3 0.013 6 0 0 0 0 0.617 96383 chr6 87964805 87964805 A G rs377741503 ZNF292 Synonymous SNV Q486Q 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 0.002 96384 chr18 8825271 8825271 C T rs115783507 MTCL1 Nonsynonymous SNV R1255C 0.009 0.016 0 2 11 6 0.005 0 0 0 0 0 Benign 11.55 96385 chr6 142691443 142691443 T A rs375861051 ADGRG6 Nonsynonymous SNV H194Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 0.036 96386 chr6 142762044 142762044 G C rs753973507 ADGRG6 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.42 96387 chr4 42403303 42403303 G A rs148621294 SHISA3 Synonymous SNV E184E 0.02 0.008 0.014 7 24 3 0.018 4 0 0 0 0 1.541 96388 chr4 4283543 4283543 G A rs139653868 LYAR Synonymous SNV H68H 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 4.993 96389 chr4 887698 887698 G A rs143895569 GAK Nonsynonymous SNV H202Y 0.009 0.005 0 2 11 2 0.005 0 1 0 0 0 3.542 96390 chr6 155764417 155764417 G T rs757187647 NOX3 Nonsynonymous SNV T159N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.74 96391 chr4 47548845 47548845 C T rs1031184882 ATP10D Nonsynonymous SNV P534L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.824 96392 chr18 11886739 11886739 C G rs45522032 MPPE1 Synonymous SNV L239L 0.003 0.003 0.01 3 4 1 0.008 3 0 0 0 0 4.092 96393 chr6 56443730 56443730 C T DST Synonymous SNV L1680L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 96394 chr4 951773 951773 G A rs147762522 TMEM175 Nonsynonymous SNV R253H 0.009 0.005 0.003 2 10 2 0.005 1 1 0 0 0 26.3 96395 chr6 159331004 159331004 G C rs963108452 C6orf99 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.033 96396 chr5 115782493 115782493 T G rs200578077 SEMA6A Nonsynonymous SNV Q970P 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Benign 23.3 96397 chr6 159420836 159420836 C G rs369484408 RSPH3 Nonsynonymous SNV R58T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.2 96398 chr5 5235164 5235164 C T rs200111235 ADAMTS16 Nonsynonymous SNV R630C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 29.3 96399 chr4 962612 962612 C T rs145674824 DGKQ Synonymous SNV A146A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.67 96400 chr5 1201862 1201862 C A rs202242697 SLC6A19 Nonsynonymous SNV P33T 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 96401 chr5 52382835 52382835 C T rs755016308 ITGA2 Synonymous SNV N1104N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.399 96402 chr5 123983328 123983328 C A rs753570104 ZNF608 Nonsynonymous SNV A917S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.758 96403 chr6 7231521 7231521 C T rs148116530 RREB1 Synonymous SNV P1063P 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 Benign 14.33 96404 chr6 27278340 27278340 A G rs147268352 POM121L2 Nonsynonymous SNV I537T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 96405 chr5 54522479 54522479 G A rs756870581 MCIDAS Synonymous SNV D78D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.58 96406 chr5 126213994 126213994 C T rs146266199 MARCHF3 Synonymous SNV S162S 0.004 0 0 4 5 0 0.01 0 0 0 0 0 19.62 96407 chr6 160523609 160523609 G C rs149190879 IGF2R Nonsynonymous SNV E2301Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.39 96408 chr5 102440260 102440260 A G rs781913946 GIN1 Synonymous SNV D61D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.222 96409 chr5 102503017 102503017 A G rs35071493 PPIP5K2 Synonymous SNV K685K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.689 96410 chr6 74210375 74210375 C T rs200217371 MTO1 Stop gain R666X 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 38 96411 chr5 57790693 57790693 A T rs147191680 GAPT Nonsynonymous SNV E110D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 1.621 96412 chr5 64020241 64020241 T C rs16879016 SREK1IP1 Synonymous SNV T146T 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 0.002 96413 chr5 108714182 108714182 G A rs375102754 PJA2 Nonsynonymous SNV H336Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 96414 chr5 64103497 64103497 G A rs114060499 CWC27 Stop gain W337X 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 3.424 96415 chr5 64103523 64103523 A C rs79763581 CWC27 Nonsynonymous SNV S346R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.437 96416 chr18 9888047 9888047 C T TXNDC2 Nonsynonymous SNV T524I 0.001 0 0 0 1 0 0 0 0 0 0 0 28 96417 chr5 132009787 132009787 A G rs2243251 IL4 Synonymous SNV L15L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.614 96418 chr5 132015600 132015600 C A rs71645916 LOC105379176 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.885 96419 chr5 65349879 65349879 C T rs145974638 ERBIN Synonymous SNV V911V 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Likely benign 8.909 96420 chr18 31319825 31319825 T C rs199974440 ASXL3 Synonymous SNV A819A 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 Benign 0.001 96421 chr5 66459234 66459234 C G rs200858877 MAST4 Nonsynonymous SNV I1148M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.231 96422 chr6 154533930 154533930 G A rs35357377 IPCEF1 Nonsynonymous SNV P171S 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 11.28 96423 chr18 33750060 33750060 A G rs199910336 ELP2 Nonsynonymous SNV D634G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.89 96424 chr6 157099158 157099158 C G rs935320680 ARID1B Nonsynonymous SNV A32G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23 96425 chr6 157099402 157099402 - CAGCAGCAGCAGCAGCAGCAGCAA ARID1B Q131_H132insQQQQQQQQ 0.003 0 0 0 3 0 0 0 0 0 0 0 96426 chr6 167721334 167721334 A T rs34534324 UNC93A Synonymous SNV A306A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 96427 chr4 68930465 68930465 G A rs143544573 TMPRSS11F Nonsynonymous SNV S318F 0.016 0.018 0.017 4 19 7 0.01 5 0 0 0 0 23.1 96428 chr6 33652626 33652626 G A rs41267659 ITPR3 Nonsynonymous SNV C1738Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 96429 chr18 43447536 43447536 C T rs202038268 EPG5 Nonsynonymous SNV D2135N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 14.95 96430 chr5 122425797 122425797 G C PRDM6 Nonsynonymous SNV G30R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 96431 chr5 138728438 138728438 G A rs575154446 PROB1 Nonsynonymous SNV P778L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 27.3 96432 chr18 46474797 46474797 G T rs145686330 SMAD7 Synonymous SNV P208P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 3.567 96433 chr6 36168616 36168616 G C BRPF3 Nonsynonymous SNV V173L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.611 96434 chr5 126783277 126783277 C T rs36061366 MEGF10 Synonymous SNV N919N 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.507 96435 chr5 76326792 76326792 C T AGGF1 Synonymous SNV L67L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.15 96436 chr5 77511978 77511978 T C rs35496909 AP3B1 Synonymous SNV L180L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.665 96437 chr5 77524004 77524004 T G rs7706167 AP3B1 Synonymous SNV A64A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 11.94 96438 chr6 165715359 165715359 G C rs35713301 C6orf118 Nonsynonymous SNV A151G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 96439 chr5 78338129 78338129 G A rs141539843 DMGDH Synonymous SNV N390N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.667 96440 chr7 100200130 100200130 C T rs140507217 PCOLCE Synonymous SNV C17C 0.003 0 0 0 4 0 0 0 0 0 0 0 13.63 96441 chr7 102462627 102462627 C T rs765102699 FBXL13 Nonsynonymous SNV M581I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 96442 chr5 132437472 132437472 A G rs200858773 HSPA4 Nonsynonymous SNV I687V 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 10.08 96443 chr6 39353422 39353422 G A rs139112928 KIF6 Nonsynonymous SNV R64W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 96444 chr5 140237634 140237634 G A rs181372488 PCDHA10 Synonymous SNV S667S 0.004 0.003 0.003 6 5 1 0.015 1 0 0 0 0 2.688 96445 chr6 4087894 4087894 G A C6orf201 Nonsynonymous SNV E7K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.542 96446 chr18 43795986 43795986 C T rs61736697 C18orf25 Nonsynonymous SNV A47V 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 12.35 96447 chr7 104752423 104752423 A G rs77885224 KMT2E Nonsynonymous SNV N1407S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 14.7 96448 chr5 79817828 79817828 G T rs746747618 FAM151B Nonsynonymous SNV S181I 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 96449 chr18 44113283 44113283 G A rs146739496 LOXHD1 Nonsynonymous SNV A199V 0.014 0.021 0.014 7 17 8 0.018 4 1 0 0 0 Conflicting interpretations of pathogenicity 28.9 96450 chr5 140552589 140552589 A T rs199980382 PCDHB7 Nonsynonymous SNV E58V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.77 96451 chr6 17688665 17688665 C T rs182214509 NUP153 Nonsynonymous SNV G99E 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 24.4 96452 chr7 108213593 108213593 C T rs773508541 DNAJB9 Synonymous SNV F156F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 96453 chr18 60191308 60191308 - GAGGACGAGCGCGGC rs752670608 ZCCHC2 D224_G225insERGED 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 96454 chr4 79334178 79334178 C T rs201693179 FRAS1 Nonsynonymous SNV A1455V 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 Uncertain significance 22.7 96455 chr5 89949423 89949423 C T rs376636949 ADGRV1 Synonymous SNV Y1344Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.069 96456 chr7 121758435 121758435 T A rs147034804 AASS Nonsynonymous SNV I205L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 96457 chr6 2766363 2766363 G A WRNIP1 Synonymous SNV V169V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 5.42 96458 chr5 139930460 139930460 A G rs148108594 SRA1 Nonsynonymous SNV I151T 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 27.4 96459 chr6 28097237 28097237 T C rs367727118 ZSCAN16 Synonymous SNV L186L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.741 96460 chr5 140235681 140235681 G T PCDHA10 Synonymous SNV S16S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.404 96461 chr7 123508636 123508636 A T rs138492993 HYAL4 Synonymous SNV S103S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 96462 chr4 8417646 8417646 G A rs115667291 ACOX3 Synonymous SNV R75R 0.011 0.01 0 5 13 4 0.013 0 0 0 0 0 Likely benign 9.065 96463 chr6 2833911 2833911 T C SERPINB1 Synonymous SNV P357P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.639 96464 chr5 140263290 140263290 T A PCDHA13 Synonymous SNV A479A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.143 96465 chr5 140264120 140264120 C G rs142468733 PCDHA13 Nonsynonymous SNV P756R 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 16.69 96466 chr18 71816073 71816073 G A rs34193726 TIMM21 Synonymous SNV Q10Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.265 96467 chr7 127225037 127225037 A T rs150205179 GCC1 Nonsynonymous SNV V67E 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 7.221 96468 chr5 140553613 140553613 C T rs201982034 PCDHB7 Synonymous SNV N399N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 1.855 96469 chr18 60572505 60572505 T C PHLPP1 Nonsynonymous SNV M899T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 96470 chr6 3129308 3129308 G A rs148936859 BPHL Synonymous SNV L136L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 12.44 96471 chr4 87656789 87656789 G A rs200458008 PTPN13 Nonsynonymous SNV A732T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.2 96472 chr6 100061598 100061598 C A rs9494888 PRDM13 Nonsynonymous SNV H363N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.6 96473 chr4 88261712 88261712 G A rs145655841 HSD17B11 Nonsynonymous SNV H248Y 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 9.551 96474 chr5 140905989 140905989 G A rs781577050 DIAPH1 Nonsynonymous SNV R1096W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 35 96475 chr4 88902725 88902725 G A rs6812524 SPP1 Synonymous SNV S64S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 7.607 96476 chr6 49815997 49815997 C T rs150372078 CRISP1 Nonsynonymous SNV A71T 0.002 0 0 0 2 0 0 0 0 0 0 0 26 96477 chr5 149360202 149360202 T A rs114212275 SLC26A2 Nonsynonymous SNV F349Y 0 0 0 5 0 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.438 96478 chr18 77474557 77474557 C T rs375762990 CTDP1 Nonsynonymous SNV T247M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.989 96479 chr6 5086072 5086072 A C rs34969826 PPP1R3G Nonsynonymous SNV Q118P 0.016 0.008 0.024 0 19 3 0 7 0 0 0 0 0.001 96480 chr6 5086721 5086721 G A rs7761091 PPP1R3G Synonymous SNV A334A 0.018 0.008 0.024 0 21 3 0 7 0 0 0 0 16.03 96481 chr5 149375695 149375695 C T rs141563192 TIGD6 Nonsynonymous SNV A73T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 14.27 96482 chr6 51612752 51612752 G A rs145141656 PKHD1 Nonsynonymous SNV P3221L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 28.6 96483 chr19 501725 501725 G A rs62130833 MADCAM1 Nonsynonymous SNV D242N 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 3.643 96484 chr7 134363723 134363723 G A rs531190969 BPGM Synonymous SNV A240A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.16 96485 chr19 622945 622945 G A rs148655029 POLRMT Nonsynonymous SNV A444V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.735 96486 chr5 145509631 145509631 C T rs112912805 LARS1 Nonsynonymous SNV A814T 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 Benign/Likely benign 22.7 96487 chr5 145838629 145838629 - CAGGCTCAGGCCCAGGCC rs778789072 TCERG1 Q242_V243insAQAQAQ 0.004 0 0 3 5 0 0.008 0 0 0 0 0 96488 chr7 135078868 135078868 G A rs757791803 CNOT4 Nonsynonymous SNV P474S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 96489 chr19 861911 861911 C T rs372792553 CFD Synonymous SNV T197T 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 Benign 16.98 96490 chr5 148747642 148747642 C T rs140144750 PCYOX1L Synonymous SNV L287L 0.026 0.016 0.014 7 31 6 0.018 4 0 0 1 0 10.36 96491 chr6 110534292 110534292 G A rs755989721 CDC40 Nonsynonymous SNV V291I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 96492 chr6 111583601 111583601 G C rs771912428 MFSD4B Nonsynonymous SNV D57H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 96493 chr7 138764803 138764803 C T rs138485120 ZC3HAV1 Nonsynonymous SNV R295H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.173 96494 chr7 138916697 138916697 G C rs141209093 UBN2 Nonsynonymous SNV R156P 0.007 0.003 0.017 2 8 1 0.005 5 0 0 0 0 Benign 23 96495 chr7 100648476 100648476 T C rs58734835 MUC12 Nonsynonymous SNV S4878P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 10.28 96496 chr7 100680336 100680336 C T rs74687161 MUC17 Nonsynonymous SNV A1880V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 14.08 96497 chr7 100683120 100683120 C G rs116593362 MUC17 Nonsynonymous SNV T2808R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.002 96498 chr7 100683156 100683156 C T rs79046921 MUC17 Nonsynonymous SNV T2820M 0.005 0 0.003 0 6 0 0 1 0 0 0 0 10.08 96499 chr6 112421883 112421883 A C FAM229B Synonymous SNV R46R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.7 96500 chr7 101847811 101847811 C T rs781865770 CUX1 Synonymous SNV P1027P 0.003 0 0 0 4 0 0 0 0 0 0 0 16.99 96501 chr7 101892244 101892244 G A rs199822524 CUX1 Synonymous SNV K1491K 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 6.057 96502 chr5 149627361 149627361 G A CAMK2A Nonsynonymous SNV T306M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 96503 chr5 150515886 150515886 C T rs370983636 ANXA6 Synonymous SNV R108R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.51 96504 chr19 507763 507763 A T rs755474194 TPGS1 Nonsynonymous SNV E86V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 96505 chr7 141739914 141739914 G T MGAM 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 96506 chr5 112179359 112179359 G A rs140868933 APC Nonsynonymous SNV A2672T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 19.57 96507 chr6 36927136 36927136 C T rs74853487 PI16 Synonymous SNV Y129Y 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.304 96508 chr19 640068 640068 C T rs150190794 FGF22 Nonsynonymous SNV S48F 0.011 0.005 0 6 13 2 0.015 0 0 0 0 0 22.7 96509 chr6 36931364 36931364 C G rs16889318 PI16 Nonsynonymous SNV L416V 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 25.6 96510 chr19 1054321 1054321 G A rs751641258 ABCA7 Nonsynonymous SNV R1236H 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 23.6 96511 chr7 112096073 112096073 T C rs34349457 IFRD1 Synonymous SNV D22D 0.02 0.031 0.014 10 23 12 0.026 4 0 0 0 0 6.163 96512 chr6 38821057 38821057 C T rs143295890 DNAH8 Synonymous SNV S1672S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 12.12 96513 chr5 118850709 118850709 G A rs28943591 HSD17B4 Nonsynonymous SNV A473T 0.016 0.029 0.003 4 19 11 0.01 1 0 0 0 0 Benign/Likely benign 23 96514 chr5 159659262 159659262 G A rs116237330 FABP6 Nonsynonymous SNV M75I 0.011 0.016 0.01 7 13 6 0.018 3 0 0 0 0 8.498 96515 chr5 150945465 150945465 G A rs149215962 FAT2 Nonsynonymous SNV R1010C 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 31 96516 chr19 1244112 1244112 C T rs143121586 ATP5F1D Synonymous SNV I104I 0.009 0.01 0.01 4 11 4 0.01 3 0 0 0 0 13.2 96517 chr5 121488148 121488148 G A rs114002354 ZNF474 Nonsynonymous SNV E155K 0.006 0.005 0.017 4 7 2 0.01 5 0 0 0 0 22.8 96518 chr7 115580893 115580893 G A rs34298819 TFEC Synonymous SNV S185S 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 11.57 96519 chr19 1004590 1004591 AT - rs552594749 GRIN3B M364Vfs*5 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 96520 chr6 39832759 39832759 C A rs778576748 DAAM2 Nonsynonymous SNV Q113K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 96521 chr6 39847072 39847072 C T rs201570348 DAAM2 Nonsynonymous SNV P555L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.7 96522 chr6 40360238 40360238 C T rs968525802 LRFN2 Nonsynonymous SNV R605H 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 96523 chr19 1009484 1009484 C T rs757718242 GRIN3B Synonymous SNV G1005G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.357 96524 chr6 7910780 7910780 C T TXNDC5 Nonsynonymous SNV S77N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 96525 chr7 149463111 149463111 G A rs375440597 ZNF467 Synonymous SNV Y160Y 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.154 96526 chr7 149482634 149482634 C T rs371462708 SSPO 0 0 0.007 0 0 0 0 2 0 0 0 0 2.476 96527 chr7 121650505 121650505 C T rs199960866 PTPRZ1 Nonsynonymous SNV R469C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 96528 chr7 149559571 149559571 C T rs745314702 ZNF862 Nonsynonymous SNV R1108C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 96529 chr6 43020062 43020062 T A rs150212051 CUL7 Synonymous SNV G207G 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 Benign 7.989 96530 chr6 88125552 88125552 T G rs758078650 CFAP206 Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 96531 chr7 12409924 12409924 C T rs143911862 VWDE Nonsynonymous SNV E555K 0.017 0.016 0.01 4 20 6 0.01 3 0 0 0 0 18.71 96532 chr7 127015083 127015083 G A rs62621812 ZNF800 Nonsynonymous SNV P103S 0.014 0.029 0.02 6 17 11 0.015 6 0 0 0 0 9.817 96533 chr6 90372566 90372568 TCC - rs575474661 MDN1 E4786del 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 96534 chr6 13644887 13644887 G A rs142949237 RANBP9 Synonymous SNV F334F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 96535 chr6 136687478 136687478 G A rs143382936 MAP7 Nonsynonymous SNV R232C 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 16.5 96536 chr5 167631599 167631599 G A rs141103827 TENM2 Nonsynonymous SNV R1034Q 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 25.7 96537 chr5 176024478 176024478 C T rs191378716 GPRIN1 Synonymous SNV P786P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.39 96538 chr5 176025761 176025761 C T rs140938518 GPRIN1 Nonsynonymous SNV G359R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 10.07 96539 chr7 129040153 129040153 G A rs117550824 AHCYL2 Synonymous SNV K281K 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 12.31 96540 chr6 43307645 43307645 G A rs77690862 ZNF318 Nonsynonymous SNV S1364L 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 19.33 96541 chr19 3062786 3062786 C G rs567830569 TLE5 Nonsynonymous SNV R47P 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 24.5 96542 chr7 154860700 154860700 A G rs79752055 HTR5A-AS1 0 0 0.051 0 0 0 0 15 0 0 0 0 1.975 96543 chr6 142714127 142714127 G A rs144911800 ADGRG6 Nonsynonymous SNV V423I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 3.687 96544 chr19 2278841 2278841 G A rs78560055 PEAK3 Synonymous SNV D118D 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 0.253 96545 chr6 44185448 44185448 A G rs111303907 MYMX Synonymous SNV L80L 0.032 0.021 0.017 8 38 8 0.021 5 1 0 0 0 17.35 96546 chr6 99353427 99353427 T C rs61744041 FBXL4 Synonymous SNV Q326Q 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 Benign 0.133 96547 chr19 2399071 2399071 C T rs140728595 TMPRSS9 Nonsynonymous SNV L98F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 96548 chr6 145069426 145069426 C T rs370654830 UTRN Nonsynonymous SNV R2662C 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 35 96549 chr5 169064370 169064370 G T DOCK2 Nonsynonymous SNV V14L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 96550 chr19 2767585 2767585 G A rs773946162 SGTA Nonsynonymous SNV T67M 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 0.223 96551 chr5 137688497 137688497 G A rs200772506 KDM3B Nonsynonymous SNV A5T 0.013 0.008 0.003 11 15 3 0.028 1 2 0 0 2 16.58 96552 chr6 146248346 146248346 T A SHPRH Nonsynonymous SNV K1060N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 96553 chr7 133881762 133881762 T C rs142718954 LRGUK Nonsynonymous SNV F484L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25 96554 chr5 169509844 169509844 G A rs114098294 DOCK2 Synonymous SNV S1825S 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign 8.852 96555 chr6 99912594 99912594 C T rs61753658 USP45 Nonsynonymous SNV M340I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 4.677 96556 chr7 100075001 100075001 C T rs138670160 TSC22D4 Nonsynonymous SNV E221K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 96557 chr7 156802426 156802426 T C MNX1 Nonsynonymous SNV T207A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 96558 chr7 100087214 100087214 G C rs137910126 NYAP1 Nonsynonymous SNV A624P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 96559 chr19 3813906 3813906 A C rs45465594 ZFR2 Nonsynonymous SNV I718M 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 19 96560 chr7 134849581 134849581 G A rs150916088 TMEM140 Nonsynonymous SNV G130S 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 96561 chr5 172573948 172573948 G T rs144179275 BNIP1 Nonsynonymous SNV R55L 0.003 0 0 0 4 0 0 0 0 0 0 0 33 96562 chr7 137092652 137092652 G A rs141574303 DGKI Synonymous SNV N963N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.12 96563 chr7 137640055 137640055 G A rs937670197 CREB3L2-AS1 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.784 96564 chr7 100465807 100465807 C T rs144580285 TRIP6 Synonymous SNV A105A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.64 96565 chr5 139747468 139747468 A G rs36008662 SLC4A9 Nonsynonymous SNV N717S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.156 96566 chr6 4943846 4943846 T C rs11963443 CDYL Synonymous SNV I161I 0.015 0.005 0.014 5 18 2 0.013 4 0 0 0 0 2.386 96567 chr7 19156765 19156765 G A rs565371578 TWIST1 Synonymous SNV V60V 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Likely benign 7.892 96568 chr19 4445552 4445552 G A rs61729794 UBXN6 Synonymous SNV A370A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.27 96569 chr6 151672975 151672977 AGG - rs779665518 AKAP12 E1046del 0.003 0 0 0 4 0 0 0 0 0 0 0 96570 chr6 49986738 49986738 C T rs115648436 DEFB110 Synonymous SNV R52R 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 14.49 96571 chr7 139416015 139416015 C T rs139286923 HIPK2 Synonymous SNV T273T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.36 96572 chr6 51893107 51893107 T C rs41273726 PKHD1 Nonsynonymous SNV Y1136C 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.066 96573 chr7 139661784 139661784 G A rs200064479 TBXAS1 Nonsynonymous SNV D235N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 2.639 96574 chr5 140220910 140220910 G A rs111298048 PCDHA8 Nonsynonymous SNV D2N 0.003 0 0 0 3 0 0 0 0 0 0 0 3.992 96575 chr6 52541903 52541903 G A rs376532545 TMEM14A Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21 96576 chr6 53519830 53519830 T G KLHL31 Nonsynonymous SNV T81P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 96577 chr7 140159611 140159611 C T rs141902077 MKRN1 Nonsynonymous SNV G147D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.991 96578 chr6 53152683 53152683 G A rs150583340 ELOVL5 Stop gain Q102X 0.009 0.005 0.01 1 10 2 0.003 3 0 0 0 0 Benign 35 96579 chr7 23530800 23530800 A G rs10228640 RPS2P32 0 0 0.085 0 0 0 0 25 0 0 1 0 6.872 96580 chr5 140389325 140389325 G A rs371269236 PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2 Nonsynonymous SNV D899N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.5 96581 chr5 140433306 140433306 C T rs143394864 PCDHB1 Nonsynonymous SNV R751W 0.001 0 0 0 1 0 0 0 0 0 0 0 23 96582 chr7 24747872 24747872 C T rs144358787 GSDME Synonymous SNV A124A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 5.359 96583 chr6 55304355 55304355 C T rs141318879 HMGCLL1 Nonsynonymous SNV M163I 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 23.2 96584 chr6 155129280 155129280 A T rs140506252 SCAF8 Nonsynonymous SNV Q353L 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 22.6 96585 chr6 15524661 15524661 C T rs16876569 DTNBP1 Nonsynonymous SNV A303T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.382 96586 chr7 2611882 2611882 G A rs546809382 IQCE Nonsynonymous SNV V41I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.71 96587 chr19 4685003 4685003 C T rs956531202 DPP9-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.378 96588 chr6 57061345 57061345 A C rs45479896 RAB23 Nonsynonymous SNV S101A 0.007 0.013 0.003 4 8 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.47 96589 chr19 5645377 5645377 A T rs200977093 SAFB Nonsynonymous SNV L35F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.1 96590 chr19 6477281 6477281 G T rs201079481 DENND1C Nonsynonymous SNV T110K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.09 96591 chr5 180275824 180275824 G A rs974825533 ZFP62 Synonymous SNV L891L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.298 96592 chr6 72011580 72011582 AGA - rs34358027 OGFRL1 K397del 0.014 0.013 0.014 10 17 5 0.026 4 0 0 0 0 96593 chr6 159456923 159456923 C A rs775898458 TAGAP Nonsynonymous SNV R648L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.71 96594 chr5 140794244 140794244 A - rs779931467 PCDHGA10 Q501Rfs*36 0.001 0 0 1 1 0 0.003 0 0 0 0 0 96595 chr19 5867624 5867624 C T rs144284886 FUT5 Nonsynonymous SNV R38Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.003 96596 chr19 7704694 7704694 G T STXBP2 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.9 96597 chr6 75848173 75848173 C T rs200201449 COL12A1 Nonsynonymous SNV E577K 0.004 0.016 0 0 5 6 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 96598 chr6 160328455 160328455 G C MAS1 Synonymous SNV L156L 0.003 0 0 8 3 0 0.021 0 0 0 0 0 1.533 96599 chr7 3197788 3197788 G C rs73672278 LOC100129603 0 0 0.041 0 0 0 0 12 0 0 0 0 0.525 96600 chr6 160968863 160968863 C T rs149574804 LPA Synonymous SNV T1754T 0.02 0.013 0.007 13 24 5 0.033 2 0 1 0 0 8.629 96601 chr5 33576522 33576522 A T rs761938166 ADAMTS12 Nonsynonymous SNV D1118E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.663 96602 chr7 33384191 33384194 AGCA - BBS9 Q304Sfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 96603 chr6 79735759 79735759 T C rs77379998 PHIP Synonymous SNV A241A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 6.773 96604 chr6 161470904 161470904 C T MAP3K4 Synonymous SNV L534L 0.002 0 0 8 2 0 0.021 0 0 0 0 0 11.54 96605 chr7 149524920 149524920 C T rs546857489 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 96606 chr19 8182385 8182385 G A rs139062839 FBN3 Synonymous SNV A1142A 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign 9.173 96607 chr7 150325591 150325591 T C rs149687917 GIMAP6 Nonsynonymous SNV E102G 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 2.501 96608 chr5 52376372 52376372 C T rs748213987 ITGA2 Nonsynonymous SNV A987V 0.012 0.008 0 5 14 3 0.013 0 0 0 0 0 24.3 96609 chr19 8555082 8555082 C G rs56293063 PRAM1 Synonymous SNV L668L 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 2.043 96610 chr5 37396491 37396491 G C WDR70 Nonsynonymous SNV S82T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.16 96611 chr6 167755063 167755063 G A rs34931196 TTLL2 Nonsynonymous SNV V559I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.694 96612 chr19 8654445 8654445 G A rs200679441 ADAMTS10 Nonsynonymous SNV T129M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 27.9 96613 chr7 150738005 150738005 C T rs145594004 ABCB8 Synonymous SNV G405G 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 19.55 96614 chr6 168377095 168377178 GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTT - HGC6.3 Q52_S79del 0.002 0 0 0 2 0 0 0 0 0 0 0 96615 chr5 40843740 40843740 G T rs372035757 CARD6 Nonsynonymous SNV G257V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 96616 chr19 8997119 8997119 T C rs145435147 MUC16 Nonsynonymous SNV R13693G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 22.7 96617 chr5 40852450 40852450 C T rs566975527 CARD6 Nonsynonymous SNV T339I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 96618 chr6 99857113 99857113 T C rs766908013 PNISR Synonymous SNV S203S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.954 96619 chr6 93967903 93967903 T G rs146203229 EPHA7 Nonsynonymous SNV Q670P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 28 96620 chr5 150090866 150090866 G A rs141492728 DCTN4 Nonsynonymous SNV R353C 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 24 96621 chr19 8997519 8997519 C T MUC16 Nonsynonymous SNV V13635M 0.03 0.031 0 14 35 12 0.036 0 0 0 0 0 14.4 96622 chr7 45023503 45023503 T A rs12108 SNHG15 0 0 0.095 0 0 0 0 28 0 0 0 0 6.941 96623 chr7 155094124 155094124 A G rs116500782 INSIG1 Nonsynonymous SNV Y82C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.5 96624 chr19 8999439 8999439 G A rs796202949 MUC16 Nonsynonymous SNV T13579I 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 11.81 96625 chr7 107559502 107559502 A C rs34453495 DLD Synonymous SNV G375G 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 Benign/Likely benign 7.544 96626 chr5 150723764 150723764 G T rs146301238 SLC36A2 Nonsynonymous SNV L77I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 96627 chr7 100320381 100320381 C T rs11976235 EPO Nonsynonymous SNV P114L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 9.852 96628 chr5 6623335 6623335 G A rs149196615 NSUN2 Nonsynonymous SNV H142Y 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 23.3 96629 chr7 111368481 111368481 G A rs199706346 DOCK4 Nonsynonymous SNV P1917L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Likely benign 32 96630 chr6 25471470 25471470 A G CARMIL1 Nonsynonymous SNV N255S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.4 96631 chr7 17378917 17378917 A G rs61755968 AHR Nonsynonymous SNV M490V 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 0.001 96632 chr7 17379157 17379157 G A rs4986826 AHR Nonsynonymous SNV V570I 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 Benign 12.27 96633 chr6 25778182 25778182 C T rs2328894 SLC17A4 Stop gain Q433X 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 36 96634 chr7 19184631 19184631 C T rs141872344 FERD3L Nonsynonymous SNV E119K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 96635 chr7 48626794 48626794 G A rs547381290 ABCA13 Synonymous SNV A4850A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 96636 chr7 4917757 4917757 G A rs372809547 RADIL Nonsynonymous SNV T5M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 96637 chr7 50132741 50132741 C G rs202231065 ZPBP Nonsynonymous SNV R17P 0.003 0.013 0.02 1 3 5 0.003 6 0 0 0 0 Benign 19.34 96638 chr5 156593010 156593010 T C rs149312650 FAM71B Nonsynonymous SNV K57R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.015 96639 chr5 61772513 61772513 G A rs775195938 IPO11 Nonsynonymous SNV R294K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.72 96640 chr5 64020316 64020316 T G rs80170948 SREK1IP1 Nonsynonymous SNV K121N 0.042 0.023 0.037 14 49 9 0.036 11 2 0 1 0 19.74 96641 chr7 5541318 5541318 T C rs372184331 FBXL18 Synonymous SNV L194L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.145 96642 chr5 65372169 65372169 C T rs923858878 ERBIN Nonsynonymous SNV P1220L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 34 96643 chr7 128484062 128484062 G A rs771749289 FLNC Synonymous SNV V978V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.258 96644 chr7 63475439 63475439 C T rs12537344 ZNF722P 0 0 0.276 0 0 0 0 81 0 0 35 0 0.7 96645 chr7 63981864 63981864 C T ZNF680 Nonsynonymous SNV R423Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.832 96646 chr5 66461930 66461930 G A rs17221521 MAST4 Nonsynonymous SNV G2047E 0.011 0.005 0.02 4 13 2 0.01 6 0 0 0 0 9.593 96647 chr5 16680149 16680149 G A rs772571756 MYO10 Synonymous SNV N1483N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.13 96648 chr7 6590924 6590924 C T rs150447156 GRID2IP Synonymous SNV Q48Q 0.014 0.005 0.034 2 16 2 0.005 10 0 0 0 0 10.62 96649 chr7 7106600 7106600 T A rs6943868 MIR3683 0 0 0.041 0 0 0 0 12 0 0 1 0 4.744 96650 chr7 2968243 2968243 C T rs143086924 CARD11 Synonymous SNV A581A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 14.36 96651 chr6 33648198 33648198 G A rs148020704 ITPR3 Synonymous SNV T1439T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.23 96652 chr7 73011085 73011085 A G rs782241599 MLXIPL Nonsynonymous SNV L569P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 96653 chr7 73020265 73020265 C T rs61738641 MLXIPL Synonymous SNV S265S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.52 96654 chr19 10625511 10625511 C T rs764906828 S1PR5 Synonymous SNV L59L 0 0 0 2 0 0 0.005 0 0 0 0 0 5.539 96655 chr5 7892937 7892937 A G rs41283145 MTRR Nonsynonymous SNV T490A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign/Likely benign 25.8 96656 chr7 30831006 30831006 C T rs142944427 MINDY4 Nonsynonymous SNV R297W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.9 96657 chr7 73256355 73256355 T C METTL27 Nonsynonymous SNV Y39C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 96658 chr6 34826594 34826594 C T rs45458098 UHRF1BP1 Nonsynonymous SNV H821Y 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 11.87 96659 chr5 74893581 74893581 G A rs5744716 POLK Nonsynonymous SNV S766N 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 12.3 96660 chr7 73634321 73634321 G A rs375534059 LAT2 Synonymous SNV A70A 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 8.72 96661 chr7 31683138 31683138 G A rs185363516 ITPRID1 Synonymous SNV S718S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.76 96662 chr7 75517489 75517489 T C rs201365073 RHBDD2 Nonsynonymous SNV V170A 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 22.2 96663 chr19 10077053 10077053 C T rs139736960 COL5A3 Synonymous SNV R1573R 0.011 0 0.007 7 13 0 0.018 2 0 0 0 0 16.84 96664 chr19 11485390 11485390 G A rs200320719 SWSAP1 Nonsynonymous SNV G12S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.217 96665 chr7 100675159 100675159 A G rs200331855 MUC17 Synonymous SNV E154E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.258 96666 chr7 100681510 100681510 T C rs116767656 MUC17 Synonymous SNV T2271T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.013 96667 chr7 100877627 100877627 A G rs146377590 CLDN15 Nonsynonymous SNV I105T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 96668 chr7 77648731 77648731 C G rs2960452 MAGI2 Synonymous SNV P1409P 0.002 0 0.007 1 2 0 0.003 2 1 0 1 0 Benign 13.31 96669 chr19 12223583 12223583 T C rs201287382 ZNF788P Synonymous SNV R407R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.266 96670 chr7 141315304 141315304 C G rs755620097 AGK Nonsynonymous SNV P153A 0.001 0 0 0 1 0 0 0 0 0 0 0 27 96671 chr19 12992175 12992175 C G DNASE2 Synonymous SNV L5L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.633 96672 chr7 80293761 80293761 G A rs200067322 CD36 Nonsynonymous SNV G62R 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 Uncertain significance 33 96673 chr5 82835724 82835724 T G rs160278 VCAN Nonsynonymous SNV F1314C 0.017 0.005 0 4 20 2 0.01 0 0 0 0 1 Conflicting interpretations of pathogenicity 0.876 96674 chr19 13135924 13135924 G A rs148229471 NFIX Synonymous SNV K38K 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 9.607 96675 chr19 14024428 14024428 T C CC2D1A Nonsynonymous SNV L242S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.002 96676 chr7 86823161 86823161 G C DMTF1 Nonsynonymous SNV V503L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 96677 chr7 87135286 87135286 C A ABCB1 Nonsynonymous SNV R1188L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 96678 chr19 14184572 14184572 C T rs143802484 MISP3 Nonsynonymous SNV P151S 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 19.87 96679 chr5 7867016 7867016 T C FASTKD3 Nonsynonymous SNV E394G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 96680 chr19 14193283 14193283 T C rs148517828 C19orf67 Synonymous SNV S300S 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 0.007 96681 chr7 100674467 100674467 G A rs144369997 MUC17 Nonsynonymous SNV R50H 0.009 0.008 0 0 10 3 0 0 0 0 0 0 5.119 96682 chr19 10781718 10781718 A C rs140639398 ILF3 Synonymous SNV T24T 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 0.082 96683 chr19 11150197 11150197 C T rs747852149 SMARCA4 Nonsynonymous SNV R1412C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.22 96684 chr7 88964501 88964501 C T rs200424784 ZNF804B Synonymous SNV S735S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.737 96685 chr7 894830 894830 T C rs7785776 SUN1 0 0 0.02 0 0 0 0 6 0 0 3 0 0.53 96686 chr6 39284063 39284063 C T rs185274513 KCNK16 Nonsynonymous SNV V273I 0.008 0.013 0 2 9 5 0.005 0 0 1 0 0 0.688 96687 chr7 39247203 39247203 A C POU6F2 Synonymous SNV P194P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.003 96688 chr5 94956130 94956130 G A rs767961681 GPR150 Nonsynonymous SNV V51I 0.008 0.008 0 6 9 3 0.015 0 0 0 0 0 9.867 96689 chr6 41126791 41126791 C T rs267601028 TREM2 Nonsynonymous SNV G166R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 9.188 96690 chr5 79854826 79854826 A G rs148564433 ANKRD34B Nonsynonymous SNV V338A 0.009 0.01 0.014 3 10 4 0.008 4 0 0 0 0 6.694 96691 chr7 91707150 91707150 G A rs746485312 AKAP9 Synonymous SNV T2302T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.569 96692 chr7 105621500 105621500 T G rs35907611 CDHR3 Synonymous SNV G24G 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 5.069 96693 chr7 92077206 92077206 A G rs932471141 GATAD1 Nonsynonymous SNV S55G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 96694 chr7 1131920 1131920 G A rs376117751 GPER1 Nonsynonymous SNV V186M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.87 96695 chr19 15299051 15299051 G A rs11670799 NOTCH3 Nonsynonymous SNV P496L 0.036 0.021 0.024 15 42 8 0.038 7 3 0 0 0 Benign 25.1 96696 chr19 12783671 12783671 G - WDR83 G173Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 96697 chr7 11582596 11582596 C T rs771505803 THSD7A Synonymous SNV G534G 0.006 0.008 0 0 7 3 0 0 0 0 0 0 13.09 96698 chr7 148768846 148768846 G C rs199695713 ZNF786 Nonsynonymous SNV Q340E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 96699 chr7 148769162 148769162 A G rs141551499 ZNF786 Synonymous SNV P234P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.266 96700 chr7 94993261 94993261 A G rs17880470 PON3 Synonymous SNV Y203Y 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 0.003 96701 chr7 117171098 117171098 C G rs397508694 CFTR Nonsynonymous SNV P140R 0.007 0.003 0 0 8 1 0 0 0 0 0 0 27.6 96702 chr7 117174349 117174349 G A rs1800079 CFTR Nonsynonymous SNV R170H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 96703 chr6 42936704 42936704 T C rs182308788 PEX6 Nonsynonymous SNV T463A 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 Uncertain significance 10.54 96704 chr7 148921400 148921400 G C rs146328587 ZNF282 Synonymous SNV S559S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.51 96705 chr7 97841687 97841687 G A rs192139346 BHLHA15 Synonymous SNV G22G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.826 96706 chr7 98877267 98877267 C A rs11769461 MYH16 0 0 0.02 0 0 0 0 6 0 0 0 0 0.79 96707 chr7 98881199 98881199 C T rs17161650 MYH16 0 0 0.02 0 0 0 0 6 0 0 0 0 15.74 96708 chr7 98885645 98885645 C T rs61747205 MYH16 0 0 0.02 0 0 0 0 6 0 0 0 0 12.71 96709 chr7 99208014 99208014 A G rs185377878 TMEM225B 0 0 0.007 0 0 0 0 2 0 0 0 0 20.6 96710 chr7 99264238 99264238 A T rs374049621 CYP3A5 Synonymous SNV P169P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 96711 chr7 149519733 149519733 G A rs117822886 SSPO 0.005 0.003 0 0 6 1 0 0 0 0 0 0 14.13 96712 chr7 99669638 99669638 G T ZNF3 Nonsynonymous SNV Q164K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.245 96713 chr7 116199050 116199050 C T rs35242077 CAV1 Synonymous SNV D51D 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.991 96714 chr7 99706052 99706052 C A rs144875978 TAF6 Nonsynonymous SNV A503S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 26.4 96715 chr7 99725423 99725423 C T MBLAC1 Synonymous SNV H135H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.15 96716 chr7 150066886 150066886 G C rs201787512 REPIN1 Nonsynonymous SNV R29P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 96717 chr19 15166805 15166805 C T rs200139686 CASP14 Nonsynonymous SNV R212W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 96718 chr5 34811970 34811970 A G rs750732269 RAI14 Nonsynonymous SNV Y211C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 96719 chr7 150094183 150094183 G A ZNF775 Nonsynonymous SNV G205D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 96720 chr7 122027130 122027130 C T rs76528953 CADPS2 Nonsynonymous SNV D1042N 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 31 96721 chr6 46684168 46684168 A G rs143012249 PLA2G7 Nonsynonymous SNV F110S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.86 96722 chr7 4830105 4830105 G T rs371548702 AP5Z1 Nonsynonymous SNV Q451H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 96723 chr7 12417541 12417541 C A VWDE Nonsynonymous SNV Q295H 0.005 0.008 0 0 6 3 0 0 0 0 0 0 6.716 96724 chr5 35910604 35910604 T G rs201588644 CAPSL Nonsynonymous SNV D60A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 96725 chr6 112017577 112017577 C T rs55715042 FYN Synonymous SNV A260A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.75 96726 chr8 10480582 10480582 G C rs140397694 RP1L1 Nonsynonymous SNV P44A 0.02 0.021 0.024 7 24 8 0.018 7 0 0 0 0 Benign 14.2 96727 chr7 126173795 126173795 C T rs367572749 GRM8 Synonymous SNV Q342Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.054 96728 chr8 10622976 10622976 T C rs775796423 PINX1 Nonsynonymous SNV I308V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.001 96729 chr6 116574977 116574977 A C rs187133419 TSPYL4 Nonsynonymous SNV D65E 0.006 0 0 4 7 0 0.01 0 0 0 0 0 0.001 96730 chr6 116600976 116600976 C G TSPYL1 Synonymous SNV G6G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.21 96731 chr6 51915066 51915066 C A rs150597050 PKHD1 Nonsynonymous SNV R723L 0.008 0.018 0 3 9 7 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 96732 chr7 128505510 128505510 G T rs73459264 ATP6V1F Nonsynonymous SNV A80S 0.003 0 0 0 3 0 0 0 0 0 0 0 20.9 96733 chr6 54806728 54806728 C T rs768677387 FAM83B Nonsynonymous SNV R987C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 32 96734 chr6 107533438 107533438 T G PDSS2 Nonsynonymous SNV T251P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 96735 chr19 17768899 17768899 C T rs200805380 UNC13A Nonsynonymous SNV E247K 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 Uncertain significance 26.6 96736 chr19 17119326 17119326 G A rs758310062 CPAMD8 Nonsynonymous SNV P183L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 96737 chr19 17305679 17305679 G A rs181046385 MYO9B Nonsynonymous SNV R1148H 0.009 0.01 0.01 3 10 4 0.008 3 0 0 0 0 34 96738 chr6 56535576 56535576 T C rs533862998 DST Synonymous SNV S148S 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 7.839 96739 chr8 11643514 11643514 A G rs371841681 NEIL2 Nonsynonymous SNV H183R 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 24.2 96740 chr7 6194485 6194485 T C rs568128476 USP42 Synonymous SNV R1100R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.07 96741 chr19 17322578 17322578 C T rs199695802 MYO9B Nonsynonymous SNV S2018L 0.012 0.003 0.007 6 14 1 0.015 2 0 0 0 0 Benign 22.9 96742 chr8 11689173 11689173 G A FDFT1 Nonsynonymous SNV M175I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.53 96743 chr6 109752480 109752480 A G rs112892716 PPIL6 Synonymous SNV G68G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.846 96744 chr6 109766148 109766148 C G rs375453363 MICAL1 Nonsynonymous SNV V892L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.8 96745 chr7 1786086 1786086 C T rs546443014 ELFN1 Synonymous SNV D618D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.429 96746 chr19 17373416 17373416 C T rs149856828 USHBP1 Nonsynonymous SNV R132H 0.009 0.008 0.01 3 10 3 0.008 3 0 0 0 0 13.42 96747 chr7 195594 195594 G A rs61734970 FAM20C Nonsynonymous SNV G216R 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Benign 19.1 96748 chr6 109954145 109954145 G A rs143140337 AK9 Nonsynonymous SNV A412V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.1 96749 chr6 110081557 110081557 T C rs61729087 FIG4 Synonymous SNV I414I 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign/Likely benign 7.908 96750 chr7 138601750 138601750 C T rs200117856 KIAA1549 Synonymous SNV E874E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.065 96751 chr7 135392988 135392988 T G SLC13A4 Nonsynonymous SNV E80A 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 21.4 96752 chr19 18474247 18474247 G A rs143998491 PGPEP1 Nonsynonymous SNV R84Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.1 96753 chr8 123966052 123966052 A G rs141390481 ZHX2 Nonsynonymous SNV T768A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 6.151 96754 chr5 55256381 55256381 A G rs147042260 IL6ST Synonymous SNV P274P 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Likely benign 7.247 96755 chr19 18870393 18870393 C T rs150221337 CRTC1 Synonymous SNV P219P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 96756 chr19 19014080 19014080 G C rs777297186 COPE Nonsynonymous SNV D193E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 7.133 96757 chr7 73791082 73791082 G A rs199672192 CLIP2 Nonsynonymous SNV R749Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 14.83 96758 chr6 71298323 71298323 C T rs146446063 SDHAF4 Nonsynonymous SNV P75S 0.009 0.008 0.044 6 10 3 0.015 13 0 0 0 0 32 96759 chr7 21939698 21939698 G C rs72658834 DNAH11 Synonymous SNV P4421P 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Benign 9.475 96760 chr7 22270486 22270486 G A rs542526589 RAPGEF5 Synonymous SNV A283A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.6 96761 chr8 124701111 124701111 C T rs751588826 ANXA13 Nonsynonymous SNV V240M 0 0 0.007 0 0 0 0 2 0 0 0 0 33 96762 chr6 118635331 118635331 G A rs41291934 SLC35F1 Synonymous SNV P381P 0.007 0.003 0.014 3 8 1 0.008 4 0 0 0 0 4.186 96763 chr19 19038597 19038597 C T rs201089108 DDX49 Synonymous SNV S375S 0.004 0.013 0.003 4 5 5 0.01 1 0 0 0 0 13.49 96764 chr7 82580689 82580689 G C rs745760356 PCLO Nonsynonymous SNV P3072R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.36 96765 chr7 2582895 2582895 C G rs140451075 BRAT1 Nonsynonymous SNV C114S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign/Likely benign 0.999 96766 chr6 138794490 138794490 G A rs201780864 NHSL1 Nonsynonymous SNV P98S 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 5.303 96767 chr6 142726832 142726832 T C rs182585288 ADGRG6 Nonsynonymous SNV F684S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 29 96768 chr6 125569530 125569530 G A TPD52L1 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 96769 chr19 19744909 19744909 C A rs45521232 GMIP Synonymous SNV P696P 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 10.62 96770 chr5 71591395 71591395 G A rs138419432 MRPS27 Nonsynonymous SNV R82W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 96771 chr8 139180238 139180238 A G rs61732535 FAM135B Synonymous SNV T386T 0.006 0.005 0.02 8 7 2 0.021 6 1 0 0 0 Benign 1.535 96772 chr6 129204449 129204449 T C rs746372774 LAMA2 Nonsynonymous SNV V20A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 96773 chr6 129618975 129618975 A C rs554956654 LAMA2 Nonsynonymous SNV H1001P 0.002 0 0 0 2 0 0 0 0 0 0 0 23 96774 chr6 83667038 83667038 G T rs34566948 UBE3D Nonsynonymous SNV S194Y 0.019 0.021 0.01 5 22 8 0.013 3 1 0 0 0 26 96775 chr6 84233875 84233875 G T rs555827964 PRSS35 Nonsynonymous SNV G239C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21 96776 chr5 74433679 74433679 A - ANKRD31 0.002 0.003 0 0 2 1 0 0 0 0 0 0 96777 chr6 86324946 86324946 T A rs140927729 SYNCRIP Nonsynonymous SNV Y369F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.47 96778 chr6 87968677 87968677 C T rs41273279 ZNF292 Nonsynonymous SNV S1777F 0.003 0.013 0 8 4 5 0.021 0 0 0 0 1 16.41 96779 chr7 149461645 149461645 T G rs565268761 ZNF467 Nonsynonymous SNV T129P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 5.524 96780 chr8 142225961 142225961 T C rs140681246 SLC45A4 Nonsynonymous SNV N562S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 7.962 96781 chr7 92761035 92761035 A G rs1053884747 SAMD9L Nonsynonymous SNV V1417A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.084 96782 chr7 149500079 149500079 G A rs750725337 SSPO 0.002 0.008 0 0 2 3 0 0 0 0 0 0 13.97 96783 chr19 24310171 24310171 A G rs2925930 ZNF254 Nonsynonymous SNV T372A 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 13.06 96784 chr7 149558440 149558440 C T rs200376794 ZNF862 Synonymous SNV L731L 0.013 0.005 0.003 1 15 2 0.003 1 0 0 0 0 8.658 96785 chr7 149559072 149559072 C T rs200599838 ZNF862 Synonymous SNV P941P 0.013 0.005 0.003 1 15 2 0.003 1 0 0 0 0 1.517 96786 chr6 90718577 90718577 - GAAAGAAA rs763281917 BACH2 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 96787 chr19 32845598 32845598 G A rs148516792 ZNF507 Nonsynonymous SNV S621N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.54 96788 chr7 37053009 37053009 C T rs149093668 ELMO1 Nonsynonymous SNV M444I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 96789 chr6 97715755 97715755 T - MMS22L Y274Sfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 96790 chr8 144660460 144660460 C T NAPRT Nonsynonymous SNV R10H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 96791 chr19 33321544 33321544 C T rs144616352 SLC7A9 Synonymous SNV P482P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 12.32 96792 chr5 79378329 79378329 G A THBS4 Nonsynonymous SNV E838K 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 35 96793 chr8 101540153 101540153 A G rs11555216 ANKRD46 Synonymous SNV S130S 0.035 0.026 0.02 14 41 10 0.036 6 0 1 0 0 4.836 96794 chr7 43548822 43548822 C G rs58269877 LUARIS 0.014 0.01 0.017 8 16 4 0.021 5 0 0 0 0 4.356 96795 chr6 146993397 146993397 T C rs748286575 ADGB Nonsynonymous SNV I294T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 96796 chr6 148840748 148840748 G A SASH1 Nonsynonymous SNV V71M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 96797 chr19 34791496 34791496 G A rs151200468 KIAA0355 Nonsynonymous SNV A40T 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 5.395 96798 chr8 144994044 144994044 G A rs28657061 PLEC Synonymous SNV S3301S 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 9.086 96799 chr19 36616363 36616363 T C rs770634310 TBCB Synonymous SNV D186D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.538 96800 chr8 144995169 144995169 G C rs58308209 PLEC Nonsynonymous SNV D2926E 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 13.72 96801 chr8 144995977 144995977 C T rs28526657 PLEC Nonsynonymous SNV R2657Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 7.406 96802 chr5 892767 892767 G C rs375328319 BRD9 Synonymous SNV G2G 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 2.318 96803 chr8 144997520 144997520 G A rs28610521 PLEC Synonymous SNV L2179L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 4.538 96804 chr8 144998028 144998028 G C rs376365984 PLEC Synonymous SNV R2009R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 0.043 96805 chr6 155597215 155597215 G A rs199712922 CLDN20 Nonsynonymous SNV G121E 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 25 96806 chr8 144999540 144999540 C T rs79705634 PLEC Synonymous SNV S1505S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 12.33 96807 chr8 145002043 145002043 C T rs11991764 PLEC Synonymous SNV E1112E 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 10.96 96808 chr8 145005789 145005789 C T rs116612406 PLEC Synonymous SNV Q725Q 0.005 0.008 0.01 6 6 3 0.015 3 0 0 0 0 Benign 12.94 96809 chr8 10469434 10469434 C A rs529460241 RP1L1 Nonsynonymous SNV G725V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 96810 chr5 90074355 90074355 G T rs773072116 ADGRV1 Nonsynonymous SNV V4260L 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 Uncertain significance 25.7 96811 chr7 47409124 47409124 T G TNS3 Synonymous SNV A373A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 96812 chr5 94956496 94956496 C T rs537651968 GPR150 Synonymous SNV L173L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 12.7 96813 chr6 152765579 152765579 C T rs139524103 SYNE1 Synonymous SNV L1275L 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign/Likely benign 14.01 96814 chr7 156755825 156755825 G A rs115075018 NOM1 Nonsynonymous SNV D624N 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 12.18 96815 chr19 38198902 38198902 C T rs367740354 ZNF607 Nonsynonymous SNV V49I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.404 96816 chr19 36498133 36498133 T G rs200994810 SYNE4 Nonsynonymous SNV Q106P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Uncertain significance 23.1 96817 chr8 17611593 17611593 T C rs209569 MTUS1 Nonsynonymous SNV H575R 0.008 0.01 0.003 5 9 4 0.013 1 1 0 0 0 Benign 21.9 96818 chr7 4839024 4839024 G A rs763548174 RADIL Synonymous SNV R1071R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.331 96819 chr6 1611085 1611085 C T rs2230096 FOXC1 Synonymous SNV C135C 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Benign 10.51 96820 chr6 1611569 1611569 C T rs79691946 FOXC1 Nonsynonymous SNV P297S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 0.018 96821 chr7 21818674 21818674 G A rs72657379 DNAH11 Synonymous SNV T3145T 0.006 0.01 0.007 3 7 4 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 96822 chr6 1612243 1612243 T G rs73406891 FOXC1 Synonymous SNV S521S 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign 4.129 96823 chr7 1608812 1608812 C G rs34407549 PSMG3 Nonsynonymous SNV S55T 0.017 0.021 0.01 5 20 8 0.013 3 1 0 0 0 0.011 96824 chr19 39092219 39092219 C G LOC105372397 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.892 96825 chr19 38696847 38696847 G A rs149733495 SIPA1L3 Synonymous SNV A1771A 0.014 0.016 0.007 7 17 6 0.018 2 0 0 0 0 Benign 11.82 96826 chr7 20782629 20782629 A G rs189610663 ABCB5 Nonsynonymous SNV S607G 0.004 0 0 0 5 0 0 0 0 0 0 0 25.1 96827 chr7 20784910 20784910 T C rs60197951 ABCB5 Nonsynonymous SNV I648T 0.014 0.005 0.024 3 16 2 0.008 7 0 0 0 0 20.9 96828 chr8 20112355 20112355 A G rs149140637 LZTS1 Nonsynonymous SNV L113P 0.013 0.013 0.014 7 15 5 0.018 4 0 0 0 0 Benign 27.4 96829 chr6 160482649 160482649 A G rs151180572 IGF2R Nonsynonymous SNV N1126S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.001 96830 chr7 51097131 51097131 C T rs149931142 COBL Synonymous SNV S554S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 96831 chr19 39879071 39879071 G A rs117135495 PAF1 Synonymous SNV N288N 0.013 0.008 0.017 7 15 3 0.018 5 0 0 0 0 7.915 96832 chr7 2578857 2578857 C T rs61740320 BRAT1 Nonsynonymous SNV G401S 0.019 0.01 0 5 22 4 0.013 0 0 0 0 0 Benign 22.7 96833 chr6 160553314 160553314 C T rs34104736 SLC22A1 Nonsynonymous SNV S189L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.792 96834 chr19 39914701 39914701 C T PLEKHG2 Synonymous SNV G917G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.31 96835 chr7 5428324 5428324 G C TNRC18 Synonymous SNV S377S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.823 96836 chr6 169622349 169622349 C T rs142051087 THBS2 Synonymous SNV T1072T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign 12.61 96837 chr6 161152807 161152807 G A rs140537724 PLG Nonsynonymous SNV R490Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 26.4 96838 chr6 170102678 170102678 C T C6orf120 Synonymous SNV L41L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.53 96839 chr6 110763773 110763773 C T rs920422628 SLC22A16 Stop gain W286X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 96840 chr6 16327918 16327918 - TGCTGC ATXN1 Q208_H209insQQ 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 96841 chr19 40519795 40519795 A G rs140807219 ZNF546 Synonymous SNV L180L 0.003 0.008 0.01 3 4 3 0.008 3 0 0 0 0 0.159 96842 chr19 40521168 40521168 C A rs142397727 ZNF546 Nonsynonymous SNV P638H 0.003 0.008 0.01 3 4 3 0.008 3 0 0 0 0 26.7 96843 chr19 40880393 40880393 - C PLD3 Frameshift insertion P298Tfs*49 0.001 0 0 2 1 0 0.005 0 0 0 0 0 96844 chr7 6078221 6078221 G A rs142287286 EIF2AK1 Nonsynonymous SNV R400W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 96845 chr7 30921892 30921892 C T rs533355613 MINDY4 Nonsynonymous SNV R690C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.45 96846 chr7 30961767 30961767 C T rs150107539 AQP1 Synonymous SNV T157T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.16 96847 chr6 167709603 167709603 C T rs34631973 UNC93A Nonsynonymous SNV T118M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.139 96848 chr19 41858602 41858602 G A rs56281462 TGFB1 Synonymous SNV T116T 0.008 0.01 0.014 9 9 4 0.023 4 0 0 0 0 1.488 96849 chr7 27213334 27213334 C T rs777710939 HOXA10 Nonsynonymous SNV D198N 0.003 0 0 0 3 0 0 0 0 0 0 0 21.4 96850 chr7 33384197 33384197 C T rs138072724 BBS9 Nonsynonymous SNV A305V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 96851 chr8 25361032 25361032 C G rs76687559 CDCA2 Synonymous SNV S590S 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 3.001 96852 chr19 41019017 41019017 C T rs769055896 SPTBN4 Nonsynonymous SNV A774V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 25.1 96853 chr8 25364876 25364876 G A rs772437412 CDCA2 Synonymous SNV K883K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.065 96854 chr7 30490975 30490975 G A rs149096738 NOD1 Synonymous SNV N686N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.328 96855 chr19 42471900 42471900 G T ATP1A3 Synonymous SNV I956I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 13.69 96856 chr7 72907223 72907223 T C BAZ1B Synonymous SNV K200K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.857 96857 chr7 104748069 104748069 G A rs753691080 KMT2E Synonymous SNV S1055S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.411 96858 chr7 105305600 105305600 G A rs146252838 ATXN7L1 Nonsynonymous SNV P40L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 24.5 96859 chr7 30726045 30726045 A C rs187661213 CRHR2 Synonymous SNV P7P 0.02 0.01 0.01 7 24 4 0.018 3 0 0 0 1 0.163 96860 chr7 106301267 106301267 T G rs370952081 CCDC71L Synonymous SNV R26R 0.009 0.01 0.01 1 11 4 0.003 3 0 0 0 0 0.483 96861 chr7 107564771 107564772 CA - LAMB1 E1710Rfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 96862 chr7 39612201 39612201 C T rs34189922 YAE1 Nonsynonymous SNV H193Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 9.307 96863 chr19 42218984 42218984 C T rs115472929 CEACAM5 Synonymous SNV D173D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 10.41 96864 chr19 42219767 42219767 C T rs111739385 CEACAM5 Nonsynonymous SNV A301V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 0.032 96865 chr7 107601680 107601680 C T rs753587933 LAMB1 Nonsynonymous SNV V694M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 96866 chr7 39649426 39649426 C T rs150110799 YAE1 Synonymous SNV A154A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.46 96867 chr7 40027657 40027657 C T rs139716678 CDK13 Synonymous SNV A557A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.839 96868 chr8 144522386 144522386 - GAG rs35759992 ZC3H3 S881_P882insS 0.014 0.021 0.01 10 17 8 0.026 3 0 0 0 1 96869 chr8 144620660 144620660 G A rs143014673 ZC3H3 Nonsynonymous SNV R293W 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 28.6 96870 chr7 31732084 31732084 T G rs36047130 PPP1R17 Nonsynonymous SNV L10R 0.024 0.021 0.037 7 28 8 0.018 11 0 0 0 1 Benign 17.75 96871 chr6 127608576 127608576 C G rs778581193 RNF146 Nonsynonymous SNV P273R 0.003 0 0 0 4 0 0 0 0 0 0 0 7.66 96872 chr7 110764250 110764250 T C rs35151795 LRRN3 Synonymous SNV Y474Y 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.001 96873 chr7 32909541 32909541 A T KBTBD2 Nonsynonymous SNV C430S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.929 96874 chr7 34182893 34182893 C T rs74674953 BMPER Synonymous SNV C599C 0.01 0.008 0.01 2 12 3 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 14.79 96875 chr7 43917767 43917767 C T rs200826148 URGCP Nonsynonymous SNV R423Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.494 96876 chr7 36661339 36661339 G A rs143001490 AOAH Synonymous SNV D178D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.769 96877 chr7 82544491 82544491 T C rs746748037 PCLO Nonsynonymous SNV I4271V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.052 96878 chr8 39079208 39079208 G T rs964811865 ADAM32 Nonsynonymous SNV C339F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 96879 chr8 39780097 39780097 G A rs200635255 IDO1 Nonsynonymous SNV R155H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 96880 chr6 25813432 25813432 C T SLC17A1 Nonsynonymous SNV G209D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 96881 chr8 41547841 41547841 C T rs147536061 ANK1 Synonymous SNV P1336P 0.011 0.01 0.017 2 13 4 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 18.04 96882 chr8 41552808 41552808 C T rs144724635 ANK1 Nonsynonymous SNV R1001H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 96883 chr8 51351132 51351132 A T rs140574427 SNTG1 Synonymous SNV T64T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.239 96884 chr6 26199301 26199301 C T rs148962857 H2AC7 Synonymous SNV E57E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.88 96885 chr7 42005604 42005604 G A GLI3 Nonsynonymous SNV R1023C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 96886 chr8 56364648 56364648 G A rs2975984 SBF1P1 0 0 0.058 0 0 0 0 17 0 0 3 0 3.335 96887 chr7 43506113 43506113 A C rs138489968 HECW1 Synonymous SNV P919P 0.01 0.021 0.02 4 12 8 0.01 6 0 0 0 0 3.668 96888 chr6 142455693 142455693 T C rs184746035 GJE1 Synonymous SNV I84I 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 0.056 96889 chr8 56366318 56366318 C T rs2929046 SBF1P1 0 0 0.082 0 0 0 0 24 0 0 8 0 3.344 96890 chr8 56366357 56366357 C T rs2975981 SBF1P1 0 0 0.048 0 0 0 0 14 0 0 7 0 2.055 96891 chr8 56366369 56366369 T A rs2929045 SBF1P1 0 0 0.048 0 0 0 0 14 0 0 7 0 5.836 96892 chr8 145170720 145170720 G A rs575520548 WDR97 Synonymous SNV A1518A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.475 96893 chr7 44092484 44092484 G C rs139647339 DBNL Nonsynonymous SNV D91H 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 25.2 96894 chr19 45452024 45452024 A C rs120074114 APOC2 Nonsynonymous SNV K41T 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Pathogenic 15 96895 chr8 6338277 6338277 C G rs533424103 MCPH1 Synonymous SNV G672G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 96896 chr7 128000004 128000004 G A rs190063022 PRRT4 Synonymous SNV C14C 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 5.18 96897 chr7 44259871 44259871 C G rs1127065 CAMK2B Synonymous SNV P380P 0.014 0.013 0.01 0 17 5 0 3 0 0 0 0 13.33 96898 chr7 128317797 128317797 C T rs201533178 FAM71F2 Nonsynonymous SNV T182I 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 28.9 96899 chr7 128415623 128415623 G T rs35893393 OPN1SW Synonymous SNV V74V 0.014 0.01 0.003 3 16 4 0.008 1 0 0 0 0 Benign 1.095 96900 chr6 35434083 35434083 G A rs115195341 FANCE Synonymous SNV R524R 0.003 0.003 0.017 3 4 1 0.008 5 0 0 0 0 Benign/Likely benign 7.854 96901 chr7 128587347 128587347 C T rs764065524 IRF5 Nonsynonymous SNV P166L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 96902 chr7 45123704 45123823 TCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGT - NACAD E652_T691del 0.006 0.016 0.007 2 7 6 0.005 2 1 2 0 0 96903 chr7 94953733 94953733 T C rs141948033 PON1 Nonsynonymous SNV N19D 0.004 0.005 0.007 0 5 2 0 2 0 1 0 0 0.013 96904 chr8 145948337 145948337 C T rs145347635 ZNF251 Synonymous SNV P236P 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 10.06 96905 chr7 129297368 129297368 C T rs141371391 NRF1 Synonymous SNV L59L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.28 96906 chr7 45145135 45145135 G A rs200226969 TBRG4 Nonsynonymous SNV R225C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 96907 chr8 68950475 68950475 C T rs371711855 PREX2 Nonsynonymous SNV R263W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 96908 chr19 46327029 46327029 G A SYMPK Synonymous SNV D865D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.657 96909 chr7 99630969 99630969 G T rs144801167 ZKSCAN1 Nonsynonymous SNV A68S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 96910 chr19 47104226 47104226 T C rs117306460 PPP5D1 Star tloss M1? 0.031 0.021 0.037 7 36 8 0.018 11 1 0 0 0 0.001 96911 chr7 55606342 55606342 G C rs139766541 VOPP1 Nonsynonymous SNV S3R 0.023 0.029 0.044 6 27 11 0.015 13 1 0 0 0 0.463 96912 chr8 74941275 74941275 C T rs11466004 LY96 Nonsynonymous SNV P127S 0.006 0.003 0.024 0 7 1 0 7 0 0 0 0 9.885 96913 chr7 55639970 55639970 G A rs200450690 VOPP1 Synonymous SNV L16L 0.021 0.023 0.01 6 25 9 0.015 3 1 0 0 0 10.79 96914 chr7 56088791 56088791 C T rs147077540 PSPH Nonsynonymous SNV G39S 0.004 0.003 0 9 5 1 0.023 0 0 0 0 1 Uncertain significance 27.5 96915 chr8 101075811 101075811 C G rs747911660 RGS22 Nonsynonymous SNV E214D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.671 96916 chr8 75928886 75928886 C T rs372412795 CRISPLD1 Nonsynonymous SNV R86W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 96917 chr8 17872298 17872298 C T rs375123453 PCM1 Synonymous SNV S1867S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.94 96918 chr7 64166784 64166784 C T rs139061817 ZNF107 Synonymous SNV Y71Y 0.003 0.016 0 0 3 6 0 0 0 0 0 0 7.474 96919 chr7 64453020 64453020 T A rs191839562 ERV3-1 Nonsynonymous SNV M129L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.507 96920 chr7 140287504 140287504 G T rs146122731 DENND2A Nonsynonymous SNV L358M 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.9 96921 chr6 36298316 36298316 G A rs74561471 BNIP5 Nonsynonymous SNV T51M 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 7.749 96922 chr19 49110606 49110606 T C rs144555465 SPACA4 Nonsynonymous SNV L124P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 15.12 96923 chr7 5410679 5410679 G A rs773309050 TNRC18 Synonymous SNV P1182P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.704 96924 chr8 99015973 99015973 G A rs199953090 MATN2 Nonsynonymous SNV R389H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 96925 chr6 158910743 158910743 G A rs61742077 TULP4 Nonsynonymous SNV S537N 0.014 0.005 0.01 8 16 2 0.021 3 0 0 0 1 20.8 96926 chr6 36953904 36953904 C A rs564000422 MTCH1 Nonsynonymous SNV A16S 0.007 0.003 0 0 8 1 0 0 0 0 0 0 24 96927 chr19 48945044 48945044 C T rs144676582 GRIN2D Synonymous SNV I757I 0.005 0.008 0.01 1 6 3 0.003 3 0 0 0 0 Benign 12.93 96928 chr7 142651353 142651353 C T rs61729036 KEL Nonsynonymous SNV R281Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 96929 chr19 49337559 49337559 C A rs139987974 HSD17B14 Nonsynonymous SNV D62Y 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 26.3 96930 chr6 42600336 42600336 A G UBR2 Nonsynonymous SNV K443R 0 0 0 2 0 0 0.005 0 0 0 0 0 12.7 96931 chr7 143701389 143701389 A T rs182442940 OR6B1 Nonsynonymous SNV Q100H 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 23.4 96932 chr19 49316570 49316570 C T rs750998535 HSD17B14 Synonymous SNV G225G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.71 96933 chr6 160113703 160113703 C T rs200264201 SOD2 Synonymous SNV A72A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 19.74 96934 chr6 43400500 43400500 G A rs45480693 ABCC10 Nonsynonymous SNV R218H 0.015 0.016 0.014 3 18 6 0.008 4 0 0 0 0 10.16 96935 chr8 26500977 26500977 C T rs776278802 DPYSL2 Synonymous SNV P383P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 96936 chr19 50029363 50029363 C T FCGRT Nonsynonymous SNV P362L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.47 96937 chr8 120233934 120233934 C T rs780369886 MAL2 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.452 96938 chr19 50154190 50154190 G A rs151252460 SCAF1 Nonsynonymous SNV G182R 0.009 0.013 0 10 11 5 0.026 0 0 0 0 0 24.7 96939 chr7 81603841 81603841 C T rs75158917 CACNA2D1 Synonymous SNV S661S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 10.96 96940 chr7 150171348 150171348 A G GIMAP8 Nonsynonymous SNV N311D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 96941 chr19 50391003 50391003 A G rs149454222 TBC1D17 Nonsynonymous SNV N491S 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 23.3 96942 chr7 84751095 84751095 A G rs781507228 SEMA3D Nonsynonymous SNV L38S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.315 96943 chr19 50154792 50154792 C G rs371485479 SCAF1 Synonymous SNV P382P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.894 96944 chr19 50193384 50193384 C G rs373026253 ADM5 Synonymous SNV P32P 0.005 0 0 0 6 0 0 0 0 0 0 0 7.908 96945 chr7 889631 889631 G A rs200884716 SUN1 Nonsynonymous SNV G55S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 2.419 96946 chr7 150644428 150644428 C A rs36210421 KCNH2 Nonsynonymous SNV R707L 0.004 0 0.014 4 5 0 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 96947 chr8 30694962 30694962 A C rs145215857 TEX15 Nonsynonymous SNV I2946M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 14.02 96948 chr19 51159351 51159351 C T rs558403135 C19orf81 Nonsynonymous SNV R38W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 21.5 96949 chr7 151860731 151860731 G A rs139610952 KMT2C Nonsynonymous SNV L3311F 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 not provided 24.2 96950 chr8 131072855 131072855 C T rs140674458 ASAP1 Synonymous SNV T997T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 17.96 96951 chr19 51301687 51301687 C T rs7251816 C19orf48 Nonsynonymous SNV V7I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.232 96952 chr9 115652255 115652255 G C rs76734829 SLC46A2 Nonsynonymous SNV P236R 0.008 0.005 0.017 1 9 2 0.003 5 0 0 0 0 0.156 96953 chr6 168464402 168464402 C T rs73028318 FRMD1 Nonsynonymous SNV R160Q 0.009 0.005 0 0 11 2 0 0 0 0 0 0 7.923 96954 chr8 39111997 39111997 G A rs199517433 ADAM32 Nonsynonymous SNV R557H 0.009 0.005 0 5 10 2 0.013 0 0 0 0 0 12.63 96955 chr7 88964430 88964430 T C rs368697789 ZNF804B Synonymous SNV L712L 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 0.002 96956 chr19 51413956 51413956 C A rs112486208 KLK4 Synonymous SNV G13G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 96957 chr6 170852717 170852717 G A rs767469628 PSMB1 Synonymous SNV Y135Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.067 96958 chr19 51453283 51453283 C T rs2232532 KLK5 Nonsynonymous SNV G55R 0.008 0.003 0.02 1 9 1 0.003 6 0 0 0 0 8.566 96959 chr8 42179427 42179427 A C rs151057347 IKBKB Synonymous SNV R566R 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 Benign/Likely benign 0.146 96960 chr7 91659250 91659250 A G rs139612565 AKAP9 Nonsynonymous SNV Q1397R 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.008 96961 chr8 134108528 134108528 G A TG Nonsynonymous SNV A2495T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 96962 chr6 56482923 56482923 A G rs141573097 DST Nonsynonymous SNV F1970S 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.07 96963 chr7 92731309 92731309 C T rs138600971 SAMD9 Nonsynonymous SNV E1368K 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Likely benign 0.009 96964 chr7 92821670 92821670 T G rs150016337 HEPACAM2 Nonsynonymous SNV Q407H 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 7.08 96965 chr9 119160759 119160759 A - rs758630284 PAPPA-AS1 0 0 0.051 0 0 0 0 15 0 0 0 0 96966 chr6 24563741 24563741 T C KIAA0319 Nonsynonymous SNV R224G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.5 96967 chr8 140998948 140998948 G A rs145607512 TRAPPC9 Synonymous SNV A923A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.52 96968 chr7 18067082 18067082 A G rs3800961 PRPS1L1 Synonymous SNV S108S 0.022 0.021 0.017 8 26 8 0.021 5 3 0 0 1 1.975 96969 chr7 18067261 18067261 G C rs112075478 PRPS1L1 Nonsynonymous SNV R49G 0.021 0.021 0.017 8 25 8 0.021 5 3 0 0 1 23.3 96970 chr7 93108763 93108763 G C rs144326254 CALCR Synonymous SNV P36P 0.011 0.01 0.007 7 13 4 0.018 2 0 0 0 0 0.019 96971 chr9 123625018 123625018 G A rs41273392 PHF19 Synonymous SNV C117C 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 13.2 96972 chr8 67344767 67344767 C T rs200439070 ADHFE1 Stop gain R6X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 96973 chr8 67706037 67706037 T C rs138778635 C8orf44-SGK3, SGK3 Synonymous SNV D22D 0.003 0 0 0 3 0 0 0 0 0 0 0 2.751 96974 chr7 21583015 21583015 G C rs753634502 DNAH11 Nonsynonymous SNV R51P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 96975 chr6 54735383 54735383 C T rs73742854 FAM83B Synonymous SNV P113P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 9.993 96976 chr6 54805074 54805074 C G rs9475076 FAM83B Nonsynonymous SNV S435R 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 0.117 96977 chr8 105080802 105080802 G A rs376898428 RIMS2 Nonsynonymous SNV G936R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 19.81 96978 chr6 26184043 26184043 C A rs146757427 H2BC6 Nonsynonymous SNV S7Y 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 21.3 96979 chr6 26184044 26184044 C A rs776953714 H2BC6 Synonymous SNV S7S 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 11.16 96980 chr6 55223875 55223875 A G rs73744212 GFRAL Synonymous SNV T297T 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Benign 1.904 96981 chr7 99085103 99085103 T C rs75593529 ZNF789 Nonsynonymous SNV S407P 0.011 0.01 0.014 2 13 4 0.005 4 0 0 0 0 12.92 96982 chr6 56323906 56323906 G T rs780600756 DST Nonsynonymous SNV T5138K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 96983 chr6 26468449 26468449 A G rs186440261 BTN2A1 Nonsynonymous SNV N358S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.6 96984 chr7 23509648 23509648 G C IGF2BP3 Nonsynonymous SNV P28A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13 96985 chr6 76564916 76564916 G T MYO6 Nonsynonymous SNV G380V 0.004 0 0 4 5 0 0.01 0 0 0 0 0 25.5 96986 chr8 144618480 144618480 G T rs11548254 ZC3H3 Nonsynonymous SNV T503K 0.036 0.018 0.024 17 42 7 0.044 7 0 0 1 0 14.45 96987 chr8 144640203 144640203 C T rs570547230 LOC100310756 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.702 96988 chr19 53085886 53085886 T C rs367937896 ZNF701 Nonsynonymous SNV Y192H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.2 96989 chr19 53645420 53645420 A C rs150054471 ZNF347 Nonsynonymous SNV S222A 0.012 0.005 0.007 4 14 2 0.01 2 0 0 0 0 0.121 96990 chr7 27237982 27237982 T C rs35608915 HOXA13 Synonymous SNV L334L 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Benign 0.572 96991 chr7 2853995 2853995 C T rs151253462 GNA12 Nonsynonymous SNV R28Q 0.013 0.026 0.007 0 15 10 0 2 0 0 0 0 5.189 96992 chr6 84922727 84922727 T C rs139586659 CEP162 Synonymous SNV A97A 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.138 96993 chr19 53855827 53855827 A G rs553547478 ZNF845 Synonymous SNV K633K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.801 96994 chr19 53856742 53856742 T C rs561834019 ZNF845 Synonymous SNV T938T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.684 96995 chr19 53884068 53884068 G A rs566169919 ZNF525 Nonsynonymous SNV R79H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.27 96996 chr19 53884701 53884701 A G rs553066327 ZNF525 Nonsynonymous SNV H290R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 96997 chr8 126194525 126194525 C T rs146237502 NSMCE2 Nonsynonymous SNV R149W 0.019 0.034 0.007 18 22 13 0.046 2 0 0 0 1 7.126 96998 chr8 144899272 144899272 C T rs775843637 PUF60 Synonymous SNV S350S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 96999 chr8 144941827 144941827 G A rs372006372 EPPK1 Synonymous SNV I1865I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.302 97000 chr6 90577201 90577201 G A CASP8AP2 Nonsynonymous SNV V1398I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.39 97001 chr9 131768577 131768577 G A rs200712113 NUP188 Nonsynonymous SNV R1668Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 35 97002 chr8 133067265 133067265 C T rs61750767 OC90 Synonymous SNV A3A 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 12.46 97003 chr19 54545042 54545042 T C rs150247144 VSTM1 Synonymous SNV V74V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.107 97004 chr7 35707069 35707069 G A rs142656716 HERPUD2 Nonsynonymous SNV H157Y 0.021 0.029 0.031 7 25 11 0.018 9 0 0 0 1 3.186 97005 chr19 54561561 54561561 T C rs77090474 VSTM1 Synonymous SNV T118T 0.013 0.005 0.014 13 15 2 0.033 4 0 0 0 0 4.075 97006 chr6 35438386 35438386 C T rs144096254 RPL10A Synonymous SNV H171H 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 17.04 97007 chr8 144999877 144999877 G A rs548430154 PLEC Nonsynonymous SNV A1393V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.131 97008 chr9 132903743 132903743 G A rs56985005 GPRACR 0 0 0.048 0 0 0 0 14 0 0 0 0 0.646 97009 chr9 132904268 132904268 G A rs74994578 GPRACR 0 0 0.054 0 0 0 0 16 0 0 0 0 8.857 97010 chr9 132904345 132904345 G A rs7870010 GPRACR 0 0 0.058 0 0 0 0 17 0 0 0 0 0.021 97011 chr9 132904442 132904442 G A rs7873160 GPRACR 0 0 0.044 0 0 0 0 13 0 0 0 0 2.223 97012 chr9 133333935 133333935 C T rs143405567 ASS1 Nonsynonymous SNV R108W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 97013 chr8 145057401 145057401 C G rs781988155 PARP10 Nonsynonymous SNV V798L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.832 97014 chr6 87964945 87964945 G A rs1011646588 ZNF292 Nonsynonymous SNV R533Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 97015 chr9 103091489 103091489 G A rs748693771 TEX10 Nonsynonymous SNV R523W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 97016 chr7 37960577 37960577 C A rs147877097 EPDR1 Synonymous SNV G12G 0.005 0.003 0.01 5 6 1 0.013 3 0 0 0 0 17.26 97017 chr9 103235956 103235956 C G rs199581308 TMEFF1 Nonsynonymous SNV P44A 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 11.2 97018 chr19 54974663 54974663 G A rs144782338 LENG9 Nonsynonymous SNV T16M 0.009 0.005 0.007 2 11 2 0.005 2 1 0 0 0 16.19 97019 chr7 40900015 40900015 C T rs34330194 SUGCT Synonymous SNV Y377Y 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 7.325 97020 chr7 42007201 42007201 T C rs62622373 GLI3 Nonsynonymous SNV I808M 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 Benign/Likely benign 13.8 97021 chr9 135930147 135930147 C T rs375088854 GTF3C5 Nonsynonymous SNV S199L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 97022 chr8 145660490 145660490 G A rs369455058 TONSL Synonymous SNV C972C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 97023 chr9 108287591 108287591 T A rs902642285 RALGAPA1P1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.925 97024 chr7 44621720 44621720 C G rs143175119 TMED4 Nonsynonymous SNV G29A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.6 97025 chr9 111625685 111625685 - G rs752334307 ACTL7A Frameshift insertion S364Qfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 97026 chr9 111659277 111659277 G T rs10979599 ELP1 Nonsynonymous SNV T499N 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 22 97027 chr7 44664022 44664022 G T rs145219519 OGDH Nonsynonymous SNV R27I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 97028 chr6 41129247 41129247 C G TREM2 Nonsynonymous SNV A49P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 97029 chr9 138676431 138676431 G A rs143198263 KCNT1 Synonymous SNV L953L 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 Benign/Likely benign 5.287 97030 chr9 139222174 139222174 T C rs28495820 GPSM1 Nonsynonymous SNV V8A 0.012 0 0.102 2 14 0 0.005 30 7 0 15 1 0.248 97031 chr8 144811340 144811340 G A rs189033490 FAM83H Stop gain Q201X 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 36 97032 chr9 13928011 13928011 T C rs2382426 LINC00583 0 0 0.034 0 0 0 0 10 0 0 1 0 0.03 97033 chr9 13928028 13928028 T C rs2382427 LINC00583 0 0 0.167 0 0 0 0 49 0 0 18 0 1.607 97034 chr8 144892654 144892654 C T rs201068836 SCRIB Nonsynonymous SNV E509K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.86 97035 chr9 139400253 139400253 G A rs202023240 NOTCH1 Synonymous SNV S1365S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.312 97036 chr9 139643531 139643531 G T rs945379 LOC100128593 0 0 0.027 0 0 0 0 8 0 0 4 0 3.461 97037 chr19 56443467 56443467 G T rs149110821 NLRP13 Nonsynonymous SNV L71I 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 97038 chr19 57175318 57175318 G C ZNF835 Nonsynonymous SNV P417A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 97039 chr8 144995370 144995370 C T rs782378265 PLEC Synonymous SNV E2859E 0.004 0.008 0 0 5 3 0 0 0 0 0 0 6.85 97040 chr9 116346195 116346195 A G rs138280516 RGS3 Nonsynonymous SNV S156G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 97041 chr9 139753521 139753521 C T rs368792000 MAMDC4 Synonymous SNV G1007G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 15.53 97042 chr6 44189421 44189421 G A SLC29A1 Nonsynonymous SNV C62Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.438 97043 chr8 144997783 144997783 G A rs74772299 PLEC Nonsynonymous SNV A2091V 0.061 0.06 0.051 19 72 23 0.049 15 2 0 0 0 Benign 12.97 97044 chr19 56538520 56538520 A G rs34274738 NLRP5 Synonymous SNV G307G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.022 97045 chr8 144998514 144998514 C T rs75586449 PLEC Synonymous SNV A1847A 0.061 0.063 0.054 20 72 24 0.051 16 3 0 0 0 Benign 12.31 97046 chr9 139927565 139927565 C T rs79691515 C9orf139 Nonsynonymous SNV S17L 0.003 0.016 0.017 0 3 6 0 5 0 0 0 0 14.12 97047 chr6 46047743 46047743 T A rs41271277 CLIC5 Nonsynonymous SNV R79S 0.014 0 0.007 4 16 0 0.01 2 0 0 0 0 Likely benign 3.648 97048 chr8 22049596 22049596 G A rs145284541 BMP1 Nonsynonymous SNV R371H 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 Benign/Likely benign 33 97049 chr8 143413177 143413177 G T TSNARE1 Nonsynonymous SNV P35Q 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 18.77 97050 chr19 57910195 57910195 A G ZNF548 Synonymous SNV P180P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.387 97051 chr9 140145431 140145431 A C rs9695981 STPG3-AS1 0 0 0.02 0 0 0 0 6 0 0 3 0 4.517 97052 chr7 100551574 100551574 A - rs747557702 MUC3A R719Efs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 97053 chr19 58379881 58379881 G A rs571355121 UBE2CP5 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 3.234 97054 chr8 24184087 24184087 C A rs377655974 ADAM28 Nonsynonymous SNV T304K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 97055 chr8 24201062 24201062 T A rs755723199 ADAM28 Nonsynonymous SNV I652N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 97056 chr7 6547908 6547908 G T rs184043502 GRID2IP Nonsynonymous SNV P751Q 0.006 0.008 0 0 7 3 0 0 1 0 0 0 26.3 97057 chr8 25265651 25265651 C A rs34067851 DOCK5 Nonsynonymous SNV A1749E 0.022 0.005 0.027 5 26 2 0.013 8 0 0 0 0 11.85 97058 chr9 20414120 20414120 G C MLLT3 Nonsynonymous SNV L239V 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 23.4 97059 chr7 107748103 107748103 C T rs150775395 LAMB4 Synonymous SNV S188S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 14.71 97060 chr8 17500131 17500131 C T rs148981308 PDGFRL Nonsynonymous SNV P317S 0.004 0.008 0.003 6 5 3 0.015 1 0 0 0 0 29.1 97061 chr8 144904042 144904042 G A rs369896699 PUF60 Synonymous SNV A22A 0.007 0 0 1 8 0 0.003 0 0 0 0 0 16.12 97062 chr8 17601248 17601248 C T rs200171947 MTUS1 Nonsynonymous SNV G718S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.635 97063 chr8 27358496 27358496 G A rs72475803 EPHX2 Nonsynonymous SNV R52Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 12.68 97064 chr7 11418827 11418827 G A rs760441064 THSD7A Synonymous SNV P1557P 0 0.005 0 3 0 2 0.008 0 0 0 0 0 14.57 97065 chr8 28980933 28980933 C T rs35504692 KIF13B Synonymous SNV A1143A 0.026 0.016 0.024 10 31 6 0.026 7 0 1 0 0 16.41 97066 chr7 100959786 100959786 G A rs371881318 IFT22 Nonsynonymous SNV H5Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 97067 chr9 2812337 2812337 A G rs150766325 PUM3 Nonsynonymous SNV I432T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 97068 chr9 32541676 32541676 A G TOPORS Synonymous SNV T884T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.907 97069 chr9 33135214 33135214 C T rs145241128 B4GALT1 Synonymous SNV L207L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.42 97070 chr7 103201997 103201997 T C rs776160707 RELN Synonymous SNV T1837T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.171 97071 chr7 107258907 107258907 T C rs6958094 BCAP29, DUS4L-BCAP29 Nonsynonymous SNV F242L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.83 97072 chr7 107262252 107262253 AT - rs569304317 BCAP29 I290Kfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 97073 chr7 107336449 107336449 A G rs917455376 SLC26A4 Nonsynonymous SNV I503M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.863 97074 chr7 107350620 107350620 G C rs200664061 SLC26A4 Nonsynonymous SNV E737D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.547 97075 chr20 306909 306909 A C SOX12 Nonsynonymous SNV K114T 0 0 0 1 0 0 0.003 0 0 0 0 0 21 97076 chr9 35562941 35562941 G A rs200684745 FAM166B Synonymous SNV D141D 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 0.136 97077 chr9 35609241 35609241 C T rs151172087 TESK1 Synonymous SNV G301G 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 8.876 97078 chr8 3351183 3351183 A G rs117343776 CSMD1 Synonymous SNV D470D 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 4.427 97079 chr8 145096005 145096005 C T rs782739842 SPATC1 Stop gain R435X 0.007 0 0 1 8 0 0.003 0 0 0 0 0 38 97080 chr9 35738146 35738146 C T rs142621039 GBA2 Nonsynonymous SNV R734H 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Likely benign 22.6 97081 chr9 130446748 130446748 A G rs141208884 STXBP1 Nonsynonymous SNV M566V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.4 97082 chr9 35810094 35810094 G A rs61758535 SPAG8 Synonymous SNV F433F 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 20.9 97083 chr7 110763563 110763563 T C rs214865 LRRN3 Synonymous SNV D245D 0.021 0.013 0.037 5 25 5 0.013 11 1 0 0 0 0.009 97084 chr8 21965801 21965801 C A rs184414226 NUDT18 Synonymous SNV L73L 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 13.67 97085 chr7 110764248 110764248 T C rs772409163 LRRN3 Nonsynonymous SNV Y474H 0.002 0 0 0 2 0 0 0 0 0 0 0 4.41 97086 chr7 111540497 111540497 C A rs144429113 DOCK4 Synonymous SNV L471L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.72 97087 chr20 3670272 3670272 C T rs768486049 SIGLEC1 Nonsynonymous SNV G1658S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.47 97088 chr7 89933362 89933362 G A rs17867249 CFAP69 Synonymous SNV A710A 0.005 0 0.003 0 6 0 0 1 0 0 0 0 13.51 97089 chr9 130829254 130829254 C T rs143478210 NAIF1 Nonsynonymous SNV A43T 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 22.3 97090 chr9 399245 399245 C A rs150298985 DOCK8 Nonsynonymous SNV H974N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 97091 chr8 41519026 41519026 C T rs150975400 ANK1 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.69 97092 chr9 421012 421012 C T rs142093178 DOCK8 Nonsynonymous SNV R1263W 0 0 0.007 0 0 0 0 2 0 0 0 0 31 97093 chr9 131193551 131193551 G C rs148321495 CERCAM Nonsynonymous SNV C313S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 27.7 97094 chr7 127950857 127950857 T C rs148028531 RBM28 Nonsynonymous SNV D617G 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 Benign 26.7 97095 chr8 145731252 145731252 G T GPT Nonsynonymous SNV C254F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24.1 97096 chr20 7894946 7894946 C T rs151148868 HAO1 Nonsynonymous SNV R137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 97097 chr7 97822066 97822066 T C rs143385146 LMTK2 Synonymous SNV C763C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.066 97098 chr9 72472850 72472850 T A rs202118489 C9orf135 Nonsynonymous SNV F37I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.9 97099 chr9 132396554 132396554 T C rs747932617 NTMT1 Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.105 97100 chr7 99703902 99703902 G A rs536356225 AP4M1 Nonsynonymous SNV R345Q 0.003 0 0 0 4 0 0 0 0 0 0 0 24 97101 chr8 101609044 101609044 C - rs138557363 SNX31 H169Tfs*48 0.003 0 0.003 0 3 0 0 1 0 0 0 0 97102 chr7 129691062 129691062 C T rs762212884 ZC3HC1 Nonsynonymous SNV A49T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 97103 chr8 101625241 101625241 T C rs75432800 SNX31 Nonsynonymous SNV K70E 0.003 0 0.014 0 4 0 0 4 0 0 0 0 3.575 97104 chr8 17814225 17814225 G C rs747651447 PCM1 Nonsynonymous SNV E529Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 97105 chr9 133967007 133967007 T G rs117361076 LAMC3 Nonsynonymous SNV S1521A 0.014 0.013 0.017 5 17 5 0.013 5 0 0 0 0 Benign 0.012 97106 chr6 90660443 90660443 G A rs144153232 BACH2 Nonsynonymous SNV P461L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 97107 chr9 134165498 134165498 G T rs151095002 PLPP7 Synonymous SNV S38S 0.007 0.005 0.007 5 8 2 0.013 2 0 0 0 0 0.005 97108 chr8 18725487 18725487 T C rs189888746 PSD3 Nonsynonymous SNV Q411R 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 26.5 97109 chr9 134353284 134353284 G A rs375814651 PRRC2B Synonymous SNV P1520P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.48 97110 chr8 10467652 10467652 - CAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCC rs750925370 RP1L1 Frameshift insertion A1319Gfs*17 0.014 0.01 0.01 7 16 4 0.018 3 1 1 0 1 97111 chr9 135073778 135073778 C T rs371305436 NTNG2 Synonymous SNV F213F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 97112 chr9 86571126 86571126 C T rs183493508 C9orf64 Nonsynonymous SNV S97N 0.007 0.021 0.017 2 8 8 0.005 5 0 0 0 0 26.3 97113 chr9 87636196 87636196 C A rs144491317 NTRK2 Synonymous SNV V759V 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 Benign 17.66 97114 chr9 88633203 88633203 C T rs141080071 NAA35 Nonsynonymous SNV R603C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 97115 chr20 23586366 23586366 T C rs148465199 CST9 Nonsynonymous SNV M46V 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 0.001 97116 chr8 21856605 21856605 A G rs369094452 XPO7 Nonsynonymous SNV N789S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.13 97117 chr9 135977479 135977479 G C rs139082000 RALGDS Nonsynonymous SNV S631C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 97118 chr8 8750245 8750245 C T rs141278509 MFHAS1 Synonymous SNV E108E 0.014 0.029 0.02 5 17 11 0.013 6 0 0 0 0 Benign 8.39 97119 chr8 39624713 39624713 C T rs202127432 ADAM2 Nonsynonymous SNV G405S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.209 97120 chr7 139305309 139305309 G A rs773317560 HIPK2 Synonymous SNV H540H 0.001 0 0 0 1 0 0 0 0 0 0 0 12 97121 chr8 11666224 11666224 - TCCCACTCCCAC FDFT1 S77_C78insHSHS 0.005 0 0 0 6 0 0 0 0 0 0 0 97122 chr8 22972228 22972228 C T rs61736402 TNFRSF10C Synonymous SNV Y75Y 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 1.653 97123 chr9 97329625 97329625 C T rs61755092 FBP2 Nonsynonymous SNV S211N 0.02 0.018 0.037 9 24 7 0.023 11 0 0 1 0 31 97124 chr7 142983528 142983528 C T rs750779713 TMEM139 Nonsynonymous SNV A86V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 97125 chr8 42587552 42587552 G A rs56198260 CHRNB3 Nonsynonymous SNV V368M 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 0.028 97126 chr8 42706014 42706014 C T rs73634689 RNF170 Nonsynonymous SNV D175N 0.014 0.016 0.003 4 16 6 0.01 1 0 0 0 0 2.021 97127 chr20 19955810 19955810 C T rs199954296 RIN2 Nonsynonymous SNV R381W 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 97128 chr8 48320499 48320499 A T SPIDR Nonsynonymous SNV I121F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 97129 chr8 48885552 48885552 G A rs143488457 MCM4 Synonymous SNV K688K 0.019 0.013 0 7 22 5 0.018 0 1 0 0 0 Benign/Likely benign 14.63 97130 chr9 99013712 99013712 C T rs188471808 HSD17B3 Synonymous SNV P147P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.937 97131 chr8 95871818 95871818 C G rs773089075 INTS8 Synonymous SNV L678L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 97132 chrUn_gl000220 118157 118157 A G RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.058 0 0 0 0 17 0 0 0 0 97133 chrUn_gl000220 118424 118424 - GT RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.01 0 0 0 0 3 0 0 0 0 97134 chrUn_gl000220 122141 122141 - TCCTCC LOC100507412 0 0 0.044 0 0 0 0 13 0 0 1 0 97135 chr7 1477774 1477774 C T rs184555166 MICALL2 Nonsynonymous SNV R757H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 24.5 97136 chr20 33342575 33342575 C T rs142762189 NCOA6 Nonsynonymous SNV G542E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 97137 chr8 57358565 57358565 G A rs1013236393 LOC101929415 0.011 0.013 0 3 13 5 0.008 0 0 0 0 0 8.673 97138 chr20 34240740 34240740 A G RBM12 Synonymous SNV P835P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.897 97139 chr7 143701974 143701974 C A rs377536793 OR6B1 Synonymous SNV V295V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.909 97140 chr9 101589202 101589202 G A GALNT12 Stop gain W237X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 97141 chr20 40126102 40126102 G A CHD6 Synonymous SNV L338L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.65 97142 chr8 28321247 28321247 C T rs3735726 FBXO16 Nonsynonymous SNV R63Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 17.07 97143 chr8 72967791 72967791 C A rs765084088 TRPA1 Nonsynonymous SNV S470I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.62 97144 chr8 30703845 30703845 T C rs144234582 TEX15 Nonsynonymous SNV T1280A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.218 97145 chr8 134260136 134260136 C T rs61755062 NDRG1 Synonymous SNV S197S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.28 97146 chrX 152988619 152988619 A G rs148588137 BCAP31 Synonymous SNV I27I 0.006 0.008 0.014 0 7 3 0 4 3 1 2 0 9.97 97147 chr20 33589087 33589087 A C rs114205213 MYH7B Nonsynonymous SNV K1881Q 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign 12.21 97148 chrX 153151423 153151423 - CGGC rs58566947 LCA10 0 0 0.054 0 0 0 0 16 0 0 8 0 97149 chr7 150771182 150771182 C T SLC4A2 Synonymous SNV D855D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.91 97150 chr7 150773222 150773222 G A rs567874460 SLC4A2 Synonymous SNV P1189P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 12.55 97151 chr7 156754922 156754922 C T rs536557904 NOM1 Synonymous SNV P571P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.35 97152 chr7 1539158 1539158 G A rs181410589 INTS1 Synonymous SNV S265S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 6.817 97153 chr8 39525681 39525681 T C rs61753675 ADAM18 Synonymous SNV T473T 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 8.152 97154 chr20 46265401 46265401 C T NCOA3 Synonymous SNV P757P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 97155 chr20 37400241 37400241 G A rs768920627 ACTR5 Nonsynonymous SNV G536S 0 0 0 2 0 0 0.005 0 0 0 0 0 34 97156 chrX 24082355 24082355 A G rs778615116 EIF2S3 Synonymous SNV S225S 0 0 0.007 0 0 0 0 2 0 0 1 0 4.743 97157 chr7 158889645 158889645 C T rs759158825 VIPR2 Nonsynonymous SNV A64T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 3.807 97158 chr7 158902595 158902595 C A VIPR2 Nonsynonymous SNV W56L 0 0 0 2 0 0 0.005 0 0 0 0 0 34 97159 chr9 140150413 140150413 C T rs146836979 NELFB Synonymous SNV L101L 0.014 0.01 0.024 3 16 4 0.008 7 0 0 0 0 13.92 97160 chr8 52366156 52366156 C T rs79394014 PXDNL Nonsynonymous SNV R391Q 0.012 0.003 0.014 2 14 1 0.005 4 0 0 0 0 1.498 97161 chr7 156746920 156746920 G A rs752149254 NOM1 Synonymous SNV S413S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.291 97162 chr9 140389596 140389596 C G rs199863279 PNPLA7 Synonymous SNV V647V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 97163 chr20 48894071 48894071 T C rs999205219 SMIM25 Nonsynonymous SNV V37A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.358 97164 chr9 140611094 140611094 C T rs202208554 EHMT1 Synonymous SNV A3A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.1 97165 chr7 100686068 100686068 G C rs767018856 MUC17 Nonsynonymous SNV G3791R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 97166 chr9 14776212 14776212 G C rs746282092 FREM1 Nonsynonymous SNV L14V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.77 97167 chr8 144557573 144557573 C T rs202075905 ZC3H3 Nonsynonymous SNV R633H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 97168 chr20 52831847 52831847 C A rs376961672 PFDN4 Synonymous SNV L47L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.55 97169 chr9 101216422 101216422 G A rs764418408 GABBR2 Synonymous SNV Y359Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.749 97170 chr7 102956491 102956491 C T DNAJC2 Nonsynonymous SNV G438E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 97171 chr20 44462856 44462856 G A rs144377679 SNX21 Nonsynonymous SNV R13Q 0 0 0 2 0 0 0.005 0 0 0 0 0 28 97172 chrX 68381614 68381614 T C rs542980507 PJA1 Nonsynonymous SNV M435V 0.003 0.018 0.007 3 3 7 0.008 2 1 3 1 1 2.545 97173 chr8 67476986 67476986 T C rs376830926 MYBL1 Synonymous SNV R675R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.19 97174 chr8 144680589 144680589 C T rs768333451 TIGD5 Synonymous SNV F172F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 97175 chr7 105671267 105671267 T C rs10270308 CDHR3 Synonymous SNV D690D 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 6.974 97176 chr9 103064586 103064586 T C TEX10 Nonsynonymous SNV T877A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.539 97177 chr9 103348558 103348558 G C rs751703046 CAVIN4 Nonsynonymous SNV S307T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.086 97178 chr7 106924142 106924142 T C rs143592207 COG5 Nonsynonymous SNV Y481C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 97179 chr7 22197488 22197488 A G rs201802452 RAPGEF5 Synonymous SNV Y211Y 0.014 0.016 0 3 16 6 0.008 0 0 0 0 0 0.236 97180 chrX 71791912 71791912 C T rs11093377 HDAC8 Synonymous SNV Q53Q 0.032 0.018 0.051 8 37 7 0.021 15 10 1 6 3 Benign 10.88 97181 chrX 72433283 72433283 T C NAP1L2 Nonsynonymous SNV K349R 0 0 0.007 0 0 0 0 2 0 0 1 0 7.935 97182 chrX 73066036 73066036 G A rs148528821 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 10.15 97183 chrX 73070523 73070523 G A rs376173906 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 3.968 97184 chrX 73070524 73070524 T G rs370843877 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 4.048 97185 chrX 77913228 77913228 C G RTL3 Synonymous SNV G230G 0 0 0.007 0 0 0 0 2 0 0 1 0 3.207 97186 chrX 79283509 79283509 T C rs195293 TBX22 Synonymous SNV L175L 0.003 0 0.007 0 4 0 0 2 2 0 1 0 Benign 1.932 97187 chr20 57429968 57429968 G A rs181363339 GNAS Nonsynonymous SNV A550T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 97188 chrX 83616540 83616540 G A rs149836352 HDX Synonymous SNV G404G 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 7.801 97189 chr20 57572729 57572729 C T rs11540881 CTSZ Synonymous SNV R189R 0.018 0.005 0.003 3 21 2 0.008 1 0 0 0 1 13.56 97190 chr7 29440224 29440224 G A CHN2 Nonsynonymous SNV R84K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 97191 chr20 60511860 60511860 C T rs3761221 CDH4 Synonymous SNV Y833Y 0.021 0.008 0.034 8 25 3 0.021 10 0 0 0 0 11.12 97192 chr20 48894714 48894714 G T rs189121151 SMIM25 Nonsynonymous SNV V64F 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 1.559 97193 chr10 100020877 100020877 C G LOXL4 Nonsynonymous SNV R155P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 97194 chr20 60892545 60892545 C T rs2427282 LAMA5 Nonsynonymous SNV R2456H 0.017 0.016 0.02 8 20 6 0.021 6 0 0 0 0 16.98 97195 chr10 101594274 101594274 T C rs17216345 ABCC2 Synonymous SNV I1132I 0.007 0 0.014 4 8 0 0.01 4 0 0 0 0 Benign 6.726 97196 chr9 113065962 113065962 C G rs141383581 TXNDC8 X96Y 0.006 0.01 0 6 7 4 0.015 0 0 0 0 0 1.277 97197 chr9 113459618 113459618 T C rs202045225 MUSK Nonsynonymous SNV I167T 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 Benign/Likely benign 10.57 97198 chr20 52789601 52789601 A G rs748676671 CYP24A1 Nonsynonymous SNV M99T 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 24.6 97199 chr8 145113008 145113008 G A rs555485437 OPLAH Synonymous SNV H331H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 97200 chr9 115167994 115167994 A T rs41280175 HSDL2 Nonsynonymous SNV K91I 0.007 0.005 0.003 5 8 2 0.013 1 0 0 0 0 Benign 21 97201 chr10 104264075 104264075 G T rs200061483 SUFU Nonsynonymous SNV A56S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 97202 chr9 35059790 35059790 T C rs142577424 VCP Synonymous SNV Q523Q 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 Benign/Likely benign 1.329 97203 chr20 61444915 61444915 A G rs142129737 OGFR Nonsynonymous SNV T650A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 97204 chr20 61937318 61937318 G A rs145631155 COL20A1 Synonymous SNV T141T 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 Benign 8.601 97205 chr8 94772158 94772158 G A TMEM67 Nonsynonymous SNV E34K 0.002 0 0 0 2 0 0 0 0 0 0 0 2.208 97206 chr9 35869489 35869489 C G rs376732271 OR13J1 Nonsynonymous SNV V304L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 97207 chr20 57035956 57035956 G A rs373370956 APCDD1L Nonsynonymous SNV P466S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.078 97208 chr9 35906601 35906601 - CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA HRCT1 Frameshift insertion H107Tfs*69 0.008 0.005 0 7 9 2 0.018 0 1 1 0 2 97209 chr9 12821695 12821695 T C rs61755264 LURAP1L Nonsynonymous SNV I208T 0.009 0.01 0.017 3 10 4 0.008 5 0 0 0 0 8.537 97210 chr7 44153775 44153780 AGGAGA - rs752781581 AEBP1 K1133_E1134del 0 0 0 2 0 0 0.005 0 0 0 0 0 97211 chr20 58467147 58467147 G A rs139419328 SYCP2 Synonymous SNV C754C 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 1.158 97212 chr20 62221988 62221988 C T rs137882845 GMEB2 Synonymous SNV P349P 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 7.912 97213 chr8 145693103 145693103 G A rs753694078 KIFC2 Nonsynonymous SNV E208K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 97214 chr20 60878683 60878683 A G rs11544169 ADRM1 Nonsynonymous SNV N20S 0.03 0.031 0.037 7 35 12 0.018 11 0 0 2 0 0.095 97215 chr10 114185353 114185353 - AA rs374266847 ZDHHC6 0 0 0.024 0 0 0 0 7 0 0 1 0 97216 chr7 36459067 36459067 A G rs147584607 ANLN Synonymous SNV T579T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Benign 0.514 97217 chr9 131094512 131094512 G C rs141228574 COQ4 Nonsynonymous SNV E161D 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Benign/Likely benign 25.9 97218 chr20 60892769 60892769 G A rs142980035 LAMA5 Synonymous SNV D2435D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 3.824 97219 chr20 60900388 60900388 C T rs142055388 LAMA5 Nonsynonymous SNV R1838Q 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Likely benign 22.5 97220 chr10 115663459 115663459 T C rs150753996 NHLRC2 Synonymous SNV I556I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.46 97221 chr9 125152621 125152621 G A rs5794 PTGS1 Nonsynonymous SNV V433I 0.007 0.01 0.007 11 8 4 0.028 2 0 0 0 0 23.3 97222 chr7 134617884 134617884 G A rs140355865 CALD1 Nonsynonymous SNV D116N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 25.4 97223 chr10 116417737 116417737 A G rs201341957 ABLIM1 Nonsynonymous SNV C75R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.02 97224 chr10 11653818 11653818 C T rs113478750 LOC107984208 0 0 0.017 0 0 0 0 5 0 0 0 0 16.83 97225 chr9 74315662 74315662 C T rs115887095 CEMIP2 Synonymous SNV Q1028Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.98 97226 chr21 27938629 27938629 C T rs146759335 CYYR1 Synonymous SNV T44T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 17.34 97227 chr8 17847418 17847418 A G rs145539051 PCM1 Synonymous SNV Q1432Q 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Benign 0.193 97228 chr21 30250573 30250573 G A rs61735764 N6AMT1 Nonsynonymous SNV P132L 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 18.04 97229 chr7 138347869 138347869 C T rs77230230 SVOPL Nonsynonymous SNV V8I 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 17.35 97230 chr9 133759978 133759978 A G rs138216232 ABL1 Synonymous SNV A767A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.267 97231 chr10 11911368 11911368 C T rs79906138 PROSER2-AS1 0.012 0.016 0.007 3 14 6 0.008 2 0 0 0 0 5.925 97232 chr9 133805326 133805326 C T rs917250737 FIBCD1 Synonymous SNV P60P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.917 97233 chr10 120802221 120802221 G A rs150645328 EIF3A Synonymous SNV P937P 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 1.15 97234 chr8 1951005 1951005 C T rs184293295 KBTBD11 Synonymous SNV G549G 0.003 0 0 0 4 0 0 0 0 0 0 0 11.26 97235 chr8 19813529 19813529 A G rs268 LPL Nonsynonymous SNV N318S 0.013 0.01 0.003 6 15 4 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.08 97236 chr9 125920647 125920647 G A rs139937366 STRBP Synonymous SNV T285T 0.004 0.008 0.007 9 5 3 0.023 2 0 0 0 0 12.06 97237 chr10 122357707 122357714 GTATTGTG - rs200804143 LINC01561 0 0 0.037 0 0 0 0 11 0 0 0 0 97238 chr9 79908273 79908273 G A rs144358567 VPS13A Nonsynonymous SNV G1080E 0.01 0.003 0.003 1 12 1 0.003 1 0 0 0 0 Benign/Likely benign 18.41 97239 chr9 127262864 127262864 C T rs1110062 NR5A1 Synonymous SNV P125P 0.005 0.013 0.007 9 6 5 0.023 2 0 0 1 0 Benign 9.431 97240 chr9 79985234 79985234 T C rs941512536 VPS13A Nonsynonymous SNV V2871A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 97241 chr9 127566488 127566488 C T rs77552401 OLFML2A Synonymous SNV S131S 0.003 0.005 0 9 3 2 0.023 0 0 0 0 0 14.34 97242 chr9 134366931 134366931 C T PRRC2B Synonymous SNV P2115P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 97243 chr9 134369862 134369862 T A rs376977124 PRRC2B Nonsynonymous SNV Y2182N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 97244 chr21 34442676 34442676 - CCTCCT OLIG1 S48_T49insSS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 97245 chr9 84202716 84202716 G A TLE1 Synonymous SNV A629A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.29 97246 chr10 124436287 124436287 G C rs28700010 LOC112577516 Nonsynonymous SNV G31A 0 0 0.15 0 0 0 0 44 0 0 4 0 0.589 97247 chr9 86955535 86955535 C T rs11568403 SLC28A3 Nonsynonymous SNV S5N 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Benign 0.167 97248 chr9 130648870 130648870 T G rs148485455 ST6GALNAC6 Nonsynonymous SNV S336R 0.007 0.018 0.003 1 8 7 0.003 1 0 0 0 0 6.738 97249 chr9 115805701 115805701 G A rs1005988487 ZFP37 Synonymous SNV H414H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 1.129 97250 chr21 28216598 28216598 C T rs148460805 ADAMTS1 Nonsynonymous SNV G226R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.347 97251 chr9 136401892 136401892 G A rs145897018 ADAMTSL2 Nonsynonymous SNV V20I 0.008 0 0 2 9 0 0.005 0 0 0 0 0 Uncertain significance 0.305 97252 chr9 131397464 131397464 T C rs140034879 WDR34 Synonymous SNV L296L 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 Benign 2.258 97253 chr7 5104833 5104833 C T rs11771682 RBAK Synonymous SNV L582L 0.035 0.021 0.041 19 41 8 0.049 12 0 0 0 0 4.171 97254 chr7 149171586 149171588 AGG - rs751585547 ZNF746 P609del 0.002 0 0 0 2 0 0 0 0 0 0 0 97255 chr9 990076 990076 G A rs10978001 DMRT3 Nonsynonymous SNV A164T 0.011 0.021 0 5 13 8 0.013 0 0 0 0 0 0.006 97256 chr21 42770896 42770896 G A rs141083003 MX2 Nonsynonymous SNV G408R 0.007 0 0.003 0 8 0 0 1 0 0 0 0 23.9 97257 chr9 117354865 117354865 A C rs72752535 ATP6V1G1 Nonsynonymous SNV E39A 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 19.2 97258 chr21 35093523 35093523 G A rs13047880 ITSN1 Synonymous SNV A23A 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 14.82 97259 chr21 43411171 43411171 T C rs142014954 ZBTB21 Nonsynonymous SNV T1012A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.003 97260 chr21 35893935 35893935 G A rs146806035 RCAN1 Nonsynonymous SNV H69Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 97261 chr7 6554126 6554126 C A rs115745154 GRID2IP Nonsynonymous SNV V435L 0.002 0 0.014 0 2 0 0 4 0 0 0 0 25.1 97262 chr7 150674951 150674951 G C rs144338227 KCNH2 Synonymous SNV T17T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.456 97263 chr7 6639662 6639662 C G C7orf26 Synonymous SNV P261P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.509 97264 chr8 3000033 3000033 A G rs7015423 CSMD1 Synonymous SNV Y2065Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.371 97265 chr21 37602821 37602821 C T rs146572771 DOP1B Nonsynonymous SNV S580L 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 13.18 97266 chr9 123210404 123210404 C T CDK5RAP2 Nonsynonymous SNV E702K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.28 97267 chr7 72848859 72848859 C T rs570248551 FZD9 Synonymous SNV P174P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 5.033 97268 chr7 72850005 72850005 C T rs372016463 FZD9 Synonymous SNV R556R 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 8.482 97269 chr7 150845977 150845977 C T rs200333232 GBX1 Nonsynonymous SNV R264H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 97270 chr21 40190427 40190427 C T rs114562289 ETS2 Nonsynonymous SNV P223L 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 11.75 97271 chr7 151257695 151257695 C T rs148197254 PRKAG2 Synonymous SNV R290R 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.87 97272 chr7 87473143 87473143 A T rs140104130 SLC25A40 Nonsynonymous SNV W223R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.95 97273 chr10 135278843 135278843 C A rs528238719 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.146 97274 chr21 45502709 45502709 G A rs150364162 TRAPPC10 Synonymous SNV L121L 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 9.704 97275 chr8 37697049 37697049 T C rs773272082 ADGRA2 Nonsynonymous SNV M807T 0.006 0 0 3 7 0 0.008 0 0 0 0 0 15.4 97276 chr21 45750513 45750513 G A rs771112528 CFAP410 Nonsynonymous SNV R278C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.77 97277 chr7 75614964 75614964 A G POR Nonsynonymous SNV N489S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.33 97278 chr21 41151122 41151122 T C rs142136474 IGSF5 Nonsynonymous SNV M275T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.87 97279 chr21 46271430 46271430 C A rs777326708 PTTG1IP Nonsynonymous SNV G94V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 7.833 97280 chr7 80292318 80292318 A G rs35398731 CD36 Nonsynonymous SNV I148V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 97281 chr8 52320799 52320799 C T rs148571691 PXDNL Nonsynonymous SNV A1129T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.725 97282 chr8 52336182 52336182 C T rs16916235 PXDNL Nonsynonymous SNV R583Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.717 97283 chr9 140139138 140139138 G A rs142358325 FAM166A Stop gain R235X 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 37 97284 chr21 46888545 46888545 G A rs144281842 COL18A1 Nonsynonymous SNV A346T 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Likely benign 11.48 97285 chr8 53569918 53569918 G C rs772800210 RB1CC1 Nonsynonymous SNV T824R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 97286 chr7 92844948 92844948 C T HEPACAM2 Nonsynonymous SNV E149K 0 0 0 2 0 0 0.005 0 0 0 0 0 32 97287 chr10 24564653 24564653 C T rs11014002 MIR603 0 0 0.058 0 0 0 0 17 0 0 1 0 3.345 97288 chr7 87049345 87049345 C T rs8187801 ABCB4 Nonsynonymous SNV R788Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 28.7 97289 chr7 87179529 87179529 T C rs35068177 ABCB1 Synonymous SNV T436T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.625 97290 chr9 130269386 130269386 C T rs764477616 NIBAN2 Nonsynonymous SNV G647D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.79 97291 chr9 138903590 138903590 G A rs200910441 NACC2 Synonymous SNV D512D 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.214 97292 chr7 8790846 8790846 G T NXPH1 Nonsynonymous SNV W88L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 97293 chr7 97823257 97823257 A G rs146559556 LMTK2 Synonymous SNV P1160P 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 0.242 97294 chr7 99129119 99129119 C G rs116057124 ZKSCAN5 Synonymous SNV R516R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.51 97295 chr21 45379595 45379595 C T rs148497398 AGPAT3 Synonymous SNV F11F 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 12.1 97296 chr21 45402263 45402263 A G rs544033115 AGPAT3 Nonsynonymous SNV K374R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.81 97297 chr9 14770783 14770783 C A rs370198850 FREM1 Nonsynonymous SNV A163S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.57 97298 chr7 99654762 99654762 C T rs375145287 ZSCAN21 Nonsynonymous SNV R45C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 97299 chr21 45499935 45499935 C T rs769169928 TRAPPC10 Synonymous SNV H83H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.076 97300 chr9 131094453 131094453 G A rs34043652 COQ4 Nonsynonymous SNV A142T 0.017 0.01 0 6 20 4 0.015 0 0 0 0 0 Benign 20.2 97301 chr9 139317614 139317614 C T rs756534429 PMPCA Synonymous SNV A361A 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 17.86 97302 chr21 45522731 45522731 G A rs59605440 TRAPPC10 Nonsynonymous SNV R673Q 0 0 0 2 0 0 0.005 0 0 0 0 0 9.447 97303 chr8 67417666 67417666 C T rs376342174 VXN Synonymous SNV R61R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.06 97304 chr9 139341700 139341700 T C rs201162968 SEC16A Nonsynonymous SNV N2226D 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Benign 23.5 97305 chr7 21788220 21788220 C G rs121908854 DNAH11 Nonsynonymous SNV R2845G 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 97306 chr9 139350595 139350595 G A rs17610266 SEC16A Synonymous SNV F1858F 0.014 0.013 0.024 5 17 5 0.013 7 1 0 0 0 15.37 97307 chr7 21813391 21813391 A G rs192327380 DNAH11 Nonsynonymous SNV H3037R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 1.676 97308 chr9 131513485 131513485 C G rs148438985 ZER1 Synonymous SNV R367R 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 12.11 97309 chr9 131570107 131570107 A C rs138515564 TBC1D13 Synonymous SNV T259T 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.664 97310 chr9 139571560 139571560 G A rs73668354 AGPAT2 Synonymous SNV C115C 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Benign/Likely benign 12.5 97311 chr9 131581161 131581161 G C rs200885264 ENDOG Nonsynonymous SNV K66N 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 25 97312 chr7 91948821 91948821 C A rs371866651 ANKIB1 Synonymous SNV R222R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 97313 chrX 2836098 2836098 T A ARSD Nonsynonymous SNV T204S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.051 97314 chr9 131586029 131586029 C T rs145802443 SPOUT1 Synonymous SNV T353T 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 15.91 97315 chr8 103284913 103284913 C T rs753411170 UBR5 Nonsynonymous SNV A2273T 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 97316 chr22 19130298 19130298 T C ESS2 Nonsynonymous SNV Q82R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 97317 chr9 20995555 20995555 C T rs145021526 FOCAD Nonsynonymous SNV A1778V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 97318 chr10 3190699 3190699 G A rs2291102 PITRM1-AS1 0 0 0.102 0 0 0 0 30 0 0 3 0 3.383 97319 chr10 3200250 3200250 G A rs745432011 PITRM1 Nonsynonymous SNV T379M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 97320 chr9 139814931 139814931 G T rs17244166 TRAF2 Synonymous SNV R308R 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 10.45 97321 chrX 38156584 38156584 T C rs144635565 RPGR Nonsynonymous SNV Q394R 0.02 0.018 0.003 0 23 7 0 1 8 2 0 0 Benign 0.001 97322 chr8 10467743 10467743 G A rs372492814 RP1L1 Synonymous SNV L1289L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.144 97323 chr7 98988805 98988805 G A rs147238850 ARPC1B Nonsynonymous SNV A238T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 97324 chr7 99097399 99097399 C G rs150414520 ZNF394 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 97325 chr7 99129170 99129170 C T rs377387003 ZKSCAN5 Synonymous SNV T533T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.428 97326 chr7 99445222 99445222 G A rs201674434 CYP3A43 Nonsynonymous SNV E144K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 97327 chr8 10555133 10555133 C G C8orf74 Nonsynonymous SNV T89R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.76 97328 chr9 140173320 140173320 C A rs150975361 TOR4A Nonsynonymous SNV P60Q 0.007 0.01 0.01 1 8 4 0.003 3 0 0 0 0 5.988 97329 chr9 140173335 140173335 G A rs140790014 TOR4A Nonsynonymous SNV R65Q 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 0.082 97330 chr8 94746196 94746196 G A rs146661551 RBM12B Nonsynonymous SNV P815S 0.013 0.008 0.014 4 15 3 0.01 4 0 0 0 0 20 97331 chr8 94800085 94800085 C T rs145236803 TMEM67 Nonsynonymous SNV P476S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 97332 chr8 102555474 102555474 A G rs3735709 GRHL2 Nonsynonymous SNV K9R 0.004 0.016 0.014 6 5 6 0.015 4 0 0 0 0 Benign 23.8 97333 chr8 110489512 110489512 T C rs755745160 PKHD1L1 Synonymous SNV D2992D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.045 97334 chr9 140707590 140707590 C T rs35943616 EHMT1 Synonymous SNV P993P 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 Benign 12.32 97335 chr21 47841977 47841977 G A rs147670568 PCNT Nonsynonymous SNV G2255E 0 0 0.007 3 0 0 0.008 2 0 0 0 0 Uncertain significance 16.01 97336 chr9 35869872 35869872 T G OR13J1 Nonsynonymous SNV H176P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 97337 chr7 33312636 33312636 C T rs751112173 BBS9 Synonymous SNV L117L 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 Uncertain significance 11.82 97338 chr10 50025433 50025433 C G rs763240437 WDFY4 Synonymous SNV A1828A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 97339 chr9 382541 382541 G A rs370632366 DOCK8 Synonymous SNV R810R 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 3.18 97340 chr9 21077456 21077456 A G rs758201220 IFNB1 Nonsynonymous SNV M138T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 97341 chr9 214444 214444 C A rs75872323 DOCK8-AS1 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 9.632 97342 chr8 121823607 121823607 G A SNTB1 Synonymous SNV A159A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.81 97343 chr22 24836959 24836959 G A rs55801059 ADORA2A Synonymous SNV L247L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.655 97344 chr9 4544640 4544640 T C rs142903137 SLC1A1 Synonymous SNV P55P 0.007 0.005 0.024 3 8 2 0.008 7 0 0 0 0 Conflicting interpretations of pathogenicity 8.221 97345 chr22 20786126 20786126 G A rs138431734 SCARF2 Synonymous SNV C80C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 7.195 97346 chr9 1056430 1056430 T C rs955880067 DMRT2 Synonymous SNV N107N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 97347 chr22 26165200 26165200 A G rs376593374 MYO18B Synonymous SNV G439G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.143 97348 chr7 4308327 4308327 C T rs117105678 SDK1 Nonsynonymous SNV T662M 0.009 0.021 0.017 3 10 8 0.008 5 0 0 0 0 3.592 97349 chr8 124710713 124710713 G A rs141969958 ANXA13 Synonymous SNV A91A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.72 97350 chr22 21380781 21380781 G A rs750786718 P2RX6 Nonsynonymous SNV E250K 0 0 0 2 0 0 0.005 0 0 0 0 0 5.313 97351 chr9 710970 710970 G A rs748225173 KANK1 Synonymous SNV K68K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.772 97352 chr9 139092453 139092453 C T rs137904970 LHX3 Nonsynonymous SNV V65I 0.003 0 0 0 3 0 0 0 0 0 0 0 25 97353 chr9 139281953 139281953 C T rs149218583 SNAPC4 Nonsynonymous SNV A437T 0.003 0 0 0 3 0 0 0 0 0 0 0 34 97354 chr22 22599393 22599393 G C rs779190018 VPREB1 Nonsynonymous SNV A27P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 97355 chr9 139304653 139304653 G C rs200125316 ENTR1 Nonsynonymous SNV L37V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.26 97356 chr9 32984803 32984803 C T rs150886026 APTX Nonsynonymous SNV R145H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 26.6 97357 chr9 72755180 72755180 G C rs144097810 MAMDC2 Nonsynonymous SNV A372P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.52 97358 chr9 139748112 139748112 G A rs752981485 MAMDC4 Synonymous SNV A148A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.621 97359 chr8 124219662 124219662 C T rs201762275 FAM83A Stop gain R291X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 36 97360 chr9 35044782 35044782 - C rs752117501 C9orf131 Frameshift insertion L686Sfs*17 0.002 0.003 0 0 2 1 0 0 0 0 0 0 97361 chr9 139802609 139802609 C G TRAF2 Nonsynonymous SNV L152V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.013 97362 chr7 47408299 47408299 G A rs76229426 TNS3 Synonymous SNV G648G 0.02 0.016 0.014 4 23 6 0.01 4 0 0 0 0 0.036 97363 chr9 35707866 35707866 C T TLN1 Synonymous SNV V1498V 0.008 0.016 0 7 9 6 0.018 0 0 0 0 0 10.03 97364 chr9 35807327 35807327 G A rs55700371 NPR2 Nonsynonymous SNV V882I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 26.8 97365 chr9 113212387 113212387 T C rs78239740 SVEP1 Nonsynonymous SNV Q1352R 0.011 0.029 0.02 7 13 11 0.018 6 0 0 0 0 2.138 97366 chr7 47879152 47879152 C T rs140534324 PKD1L1 Synonymous SNV T1887T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.37 97367 chr8 124998316 124998316 A G rs769923291 FER1L6 Synonymous SNV P473P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 97368 chr9 35842685 35842685 G A rs768500311 TMEM8B Nonsynonymous SNV V84I 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 24.5 97369 chr10 1088693 1088693 G A rs776111278 IDI1 Nonsynonymous SNV T53M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.6 97370 chr9 139926067 139926067 C T rs762085440 FUT7 Nonsynonymous SNV A42T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.81 97371 chr10 68526171 68526171 G A rs187752783 CTNNA3 Nonsynonymous SNV R378C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 97372 chr10 70404588 70404588 G A rs117273115 TET1 Nonsynonymous SNV S701N 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 5.265 97373 chr8 139737642 139737642 C T rs367667199 COL22A1 Synonymous SNV P727P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 13.31 97374 chr8 141381220 141381220 G A rs587780484 TRAPPC9 Synonymous SNV I389I 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Uncertain significance 13.57 97375 chr9 140130653 140130653 A T rs140639805 SLC34A3 Nonsynonymous SNV I529F 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 Benign/Likely benign 7.313 97376 chr9 140138211 140138211 C T rs758392300 FAM166A Nonsynonymous SNV G299S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 97377 chr9 140147681 140147681 C G rs200714944 STPG3 Nonsynonymous SNV P304R 0.003 0 0 0 4 0 0 0 0 0 0 0 9.382 97378 chr8 133844543 133844543 G A rs184113048 PHF20L1 Nonsynonymous SNV R577Q 0.019 0.013 0.017 3 22 5 0.008 5 0 0 0 0 27.8 97379 chr22 26849273 26849273 G C rs771929646 HPS4 Nonsynonymous SNV P604R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.34 97380 chr9 140260746 140260746 G A rs117526479 EXD3 Nonsynonymous SNV P242S 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 4.704 97381 chr9 90501759 90501759 G T rs80294513 SPATA31E1 Nonsynonymous SNV R786L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.958 97382 chr9 711021 711021 A G rs143368107 KANK1 Nonsynonymous SNV I85M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.011 97383 chr22 28394679 28394679 A G rs563310699 TTC28 Synonymous SNV S1656S 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 0.095 97384 chr9 94495717 94495717 C T rs538917359 ROR2 Synonymous SNV A208A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 97385 chr9 71844124 71844124 G A rs41277901 TJP2 Nonsynonymous SNV R497K 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Benign 14.94 97386 chr9 141014730 141014730 G A rs187721569 CACNA1B Synonymous SNV S2048S 0.006 0 0.007 0 7 0 0 2 0 0 0 0 0.699 97387 chr22 37469679 37469679 C T TMPRSS6 Nonsynonymous SNV R483K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.5 97388 chr8 144332248 144332248 A G rs147227382 ZFP41 Nonsynonymous SNV I79V 0.01 0.01 0.01 11 12 4 0.028 3 0 0 0 1 0.102 97389 chr10 118228804 118228804 C T rs772157432 PNLIPRP3 Synonymous SNV N345N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.035 97390 chr9 75543899 75543899 A G rs148006185 ALDH1A1 Synonymous SNV N117N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.204 97391 chr10 75528819 75528819 T C rs149334764 SEC24C Nonsynonymous SNV V778A 0 0 0.007 0 0 0 0 2 0 0 0 0 27.1 97392 chr9 96422826 96422826 C T rs201621427 PHF2 Nonsynonymous SNV P561L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 97393 chr9 78682955 78682955 C T rs138241262 PCSK5 Synonymous SNV I239I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 20.6 97394 chr7 6204936 6204936 C T rs139638792 CYTH3 Synonymous SNV P198P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 97395 chr22 31286928 31286928 G A rs41282553 OSBP2 Nonsynonymous SNV D157N 0.011 0.029 0.007 7 13 11 0.018 2 0 1 0 1 32 97396 chr10 76910529 76910529 T A rs150060591 SAMD8 Nonsynonymous SNV D81E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.964 97397 chr9 123924214 123924214 T G rs137948484 CNTRL Nonsynonymous SNV S1172A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.414 97398 chrX 100547881 100547881 G A rs375889071 TAF7L Synonymous SNV G51G 0.003 0 0 3 3 0 0.008 0 1 0 0 1 5.017 97399 chr8 143921874 143921874 C T rs150336506 GML Synonymous SNV L7L 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 7.583 97400 chr9 79930367 79930367 A G VPS13A Synonymous SNV T1498T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 6.819 97401 chr10 82034325 82034325 G T rs200157444 MAT1A Nonsynonymous SNV L346M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 97402 chr9 26913936 26913936 C T PLAA Nonsynonymous SNV R476H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 97403 chr22 40075733 40075733 C A rs56656729 CACNA1I Nonsynonymous SNV L1766M 0.006 0.008 0.007 7 7 3 0.018 2 0 0 0 0 22.6 97404 chr22 40366925 40366925 G A rs202203713 GRAP2 Nonsynonymous SNV R164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 97405 chr10 82126541 82126541 C G rs36027713 DYDC2 Nonsynonymous SNV P123R 0.007 0 0.017 4 8 0 0.01 5 0 0 0 0 15.22 97406 chr10 85970889 85970889 G A rs532268197 CDHR1 Nonsynonymous SNV A485T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 97407 chr9 2811418 2811418 C T rs140645864 PUM3 Nonsynonymous SNV M526I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.6 97408 chr10 126092398 126092398 A G rs140966644 OAT Nonsynonymous SNV M140T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.726 97409 chrX 110987953 110987953 - ACCACC ALG13 P945_A946insPP 0.003 0 0.003 2 4 0 0.005 1 1 0 0 1 97410 chr8 144672120 144672120 G A rs376735898 EEF1D Synonymous SNV A44A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.85 97411 chr10 860945 860945 C T rs748929788 LARP4B Synonymous SNV P587P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.2 97412 chr10 87373377 87373377 G A rs139855051 GRID1 Synonymous SNV D796D 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 9.335 97413 chr22 36537871 36537871 C T rs140252051 APOL3 Nonsynonymous SNV A196T 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 8.606 97414 chr9 33468772 33468772 C G rs115378364 NOL6 Synonymous SNV L375L 0.014 0.021 0.003 4 17 8 0.01 1 0 0 0 0 8.341 97415 chr8 145151144 145151144 G C rs35973351 CYC1 Synonymous SNV L148L 0.003 0.003 0.01 5 3 1 0.013 3 0 0 0 0 Benign 0.167 97416 chr7 74489531 74489531 G A rs201728682 RCC1L Nonsynonymous SNV R15W 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 25.4 97417 chr22 42998902 42998902 G T rs113513063 POLDIP3 Synonymous SNV P108P 0.02 0.016 0.017 4 24 6 0.01 5 0 0 0 0 5.158 97418 chr10 128974164 128974164 G A rs369739654 INSYN2A Nonsynonymous SNV R166W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 97419 chr22 37770039 37770039 G A rs201726267 ELFN2 Synonymous SNV D512D 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.002 97420 chr22 38119197 38119197 G A rs201794404 TRIOBP Nonsynonymous SNV G212S 0.005 0.01 0.014 4 6 4 0.01 4 0 0 0 0 Uncertain significance 18.04 97421 chr8 144944242 144944242 C T EPPK1 Nonsynonymous SNV M1060I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.689 97422 chrX 123519625 123519625 G C TENM1 Nonsynonymous SNV T1986S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 97423 chr8 145694887 145694887 C T rs143033479 KIFC2 Synonymous SNV L413L 0.013 0.008 0.003 4 15 3 0.01 1 0 0 0 0 12.95 97424 chr7 77762312 77762312 - GGGACTCTGCTGCGCCAT rs773020054 MAGI2 P1018_L1019insMAQQSP 0.001 0 0 1 1 0 0.003 0 0 0 0 0 97425 chrX 128948686 128948686 G A rs773721454 ZDHHC9 Synonymous SNV L191L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.721 97426 chrX 128948743 128948743 C T ZDHHC9 Synonymous SNV V172V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 97427 chr8 144993230 144993230 G A rs200006106 PLEC Synonymous SNV L3573L 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Benign/Likely benign 4.381 97428 chr9 98229400 98229400 T C rs587778628 PTCH1 Nonsynonymous SNV Q801R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 6.194 97429 chr8 145730382 145730400 GGCCTACAGCGTCAGCTCC - rs754006020 GPT Y123Sfs*3 0 0 0 3 0 0 0.008 0 0 0 0 0 97430 chr10 94828233 94828233 A G CYP26C1 Nonsynonymous SNV I450V 0 0 0.007 0 0 0 0 2 0 0 0 0 15.93 97431 chr10 95070384 95070384 G A MYOF Nonsynonymous SNV T1956I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 97432 chrX 100490911 100490911 C A rs34013624 DRP2 Nonsynonymous SNV S60R 0.009 0.016 0.01 5 10 6 0.013 3 2 1 1 1 15.74 97433 chr22 39482314 39482314 C T rs200828298 APOBEC3G Nonsynonymous SNV R189C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 97434 chr7 82764707 82764707 G A rs200999253 PCLO Nonsynonymous SNV A720V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.87 97435 chr9 130529315 130529315 G A rs1023203885 SH2D3C Nonsynonymous SNV S59F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.653 97436 chr10 13336486 13336486 G A rs34571629 PHYH Nonsynonymous SNV T19M 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 97437 chr10 95849020 95849020 C T rs374165573 PLCE1 Nonsynonymous SNV L57F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 97438 chr9 131023837 131023837 T C rs776546227 GOLGA2 Nonsynonymous SNV M371V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.883 97439 chrX 135790922 135790922 T C rs889623931 ARHGEF6 Nonsynonymous SNV T125A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.919 97440 chrX 13786894 13786894 A G rs909384258 OFD1 Nonsynonymous SNV K956E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 97441 chr7 87195540 87195540 T C rs60419673 ABCB1 Nonsynonymous SNV N183S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 14.65 97442 chrX 105449971 105449971 G A rs147535924 PWWP3B Synonymous SNV V182V 0.016 0.031 0.02 13 19 12 0.033 6 4 2 3 5 4.127 97443 chr22 41077613 41077613 G A rs45439291 MCHR1 Nonsynonymous SNV R317Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23.2 97444 chrX 140996127 140996127 A G rs141524131 MAGEC1 Synonymous SNV T979T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.014 97445 chrX 114424734 114424734 C T rs184389455 RBMXL3 Nonsynonymous SNV P244S 0.029 0.029 0.024 4 34 11 0.01 7 9 2 2 1 0.137 97446 chr22 41613312 41613312 G A rs760897963 L3MBTL2-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 3.158 97447 chr9 131671252 131671252 G A LRRC8A Synonymous SNV L603L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.299 97448 chr22 46931292 46931292 C T rs61737812 CELSR1 Synonymous SNV A592A 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 7.492 97449 chr10 98510346 98510346 G A rs3979611 RPL13AP5 0 0 0.058 0 0 0 0 17 0 0 1 0 7.629 97450 chr22 50216739 50216739 G A rs6009883 BRD1 Synonymous SNV G409G 0.014 0.013 0.003 15 16 5 0.038 1 0 0 0 0 8.723 97451 chrX 118767348 118767348 G A rs780604408 SEPTIN6 Nonsynonymous SNV A355V 0.003 0.003 0 0 3 1 0 0 1 0 0 0 24.2 97452 chr22 43195109 43195109 T C rs11551619 ARFGAP3 Nonsynonymous SNV Q446R 0.011 0.013 0.007 6 13 5 0.015 2 0 0 0 0 23.6 97453 chrX 152585668 152585668 - ACACCTCCTGCCTCACCTATACCTCCTGCCTCATCTTCACCTGCAGATCTTTCCTCATTC PNMA6F V155_G156insNEERSAGEDEAGGIGEAGGV 0.003 0.01 0 4 4 4 0.01 0 0 2 0 1 97454 chr10 15146059 15146059 G A rs974038287 RPP38 Nonsynonymous SNV G249D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 15.79 97455 chrX 129370462 129370462 G A rs199897285 ZNF280C Synonymous SNV S215S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 0.782 97456 chr11 1016742 1016742 C T rs201591120 MUC6 Nonsynonymous SNV S2020N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.322 97457 chrX 153594535 153594535 G A rs36051194 FLNA Nonsynonymous SNV T429M 0.003 0.005 0.007 0 3 2 0 2 0 1 1 0 Benign/Likely benign 23.6 97458 chr8 22168677 22168677 C T rs144253085 PIWIL2 Nonsynonymous SNV A618V 0.002 0.005 0.007 7 2 2 0.018 2 0 0 0 0 25.7 97459 chr9 134366932 134366932 G A rs758106828 PRRC2B Nonsynonymous SNV G2116R 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 34 97460 chrX 15373364 15373364 - ACTTTAACAGGCACTAATTCAGGT VEGFD V183_A184insPELVPVKV 0.001 0 0 0 1 0 0 0 0 0 0 0 97461 chrX 154004584 154004584 C T rs1127051 DKC1 Synonymous SNV A482A 0.014 0.018 0.051 6 16 7 0.015 15 3 2 5 2 Benign 14.26 97462 chrX 135494486 135494486 C T ADGRG4 Nonsynonymous SNV H3000Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.11 97463 chr9 79322895 79322895 T A rs540716868 PRUNE2 Nonsynonymous SNV K1432I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.7 97464 chrX 21675034 21675034 C T rs758654810 KLHL34 Synonymous SNV R291R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.396 97465 chrX 22291753 22291753 A C rs112235331 CBLL2 Synonymous SNV L215L 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 1 Benign 0.034 97466 chr10 19981281 19981281 G A rs200652299 MALRD1 Nonsynonymous SNV A2070T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.756 97467 chrX 140995712 140995712 G T rs41299076 MAGEC1 Nonsynonymous SNV S841I 0.031 0.008 0.01 4 36 3 0.01 3 7 0 0 2 16.87 97468 chrX 23886735 23886735 G A rs764560865 APOO Synonymous SNV G121G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 97469 chr8 21837672 21837672 T C rs35396759 XPO7 Synonymous SNV S283S 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 8.164 97470 chr8 22370901 22370901 G A rs780627360 PPP3CC Synonymous SNV E242E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.725 97471 chr8 101625248 101625248 C T rs145842613 SNX31 Synonymous SNV R67R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.84 97472 chr11 1017869 1017869 G A rs535623118 MUC6 Synonymous SNV S1644S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.474 97473 chr11 1017870 1017870 G T rs557519863 MUC6 Nonsynonymous SNV S1644Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 97474 chr11 1017893 1017893 A G rs76078620 MUC6 Synonymous SNV H1636H 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.056 97475 chr9 138586263 138586263 G T rs144035874 SOHLH1 Nonsynonymous SNV L306M 0.004 0.013 0.014 1 5 5 0.003 4 0 0 0 0 Benign 19.35 97476 chrX 14882860 14882860 G A rs990556958 FANCB Nonsynonymous SNV A258V 0.002 0 0 0 2 0 0 0 1 0 0 0 17.33 97477 chrX 36019752 36019752 T C CFAP47 Synonymous SNV V1115V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.825 97478 chrX 153072229 153072229 C T rs199765870 PDZD4 Nonsynonymous SNV D43N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 32 97479 chrX 46510832 46510832 T C rs145505418 SLC9A7 Synonymous SNV V385V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 5.95 97480 chr8 28989878 28989878 G A rs376420704 KIF13B Synonymous SNV P963P 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 10.05 97481 chr8 10623423 10623423 C T rs200616748 PINX1 Nonsynonymous SNV R133Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.407 97482 chr9 139360557 139360557 G A rs778255040 SEC16A Nonsynonymous SNV A1387V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.19 97483 chrX 48970663 48970663 G A rs140674609 GPKOW Nonsynonymous SNV R443W 0.011 0.016 0 4 13 6 0.01 0 3 2 0 1 29 97484 chr11 10328150 10328150 C T ADM Nonsynonymous SNV P174S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 97485 chrX 49099800 49099800 G A rs782660215 CCDC22 Nonsynonymous SNV V196M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 97486 chr8 27348788 27348788 C A rs2234912 EPHX2 Synonymous SNV G21G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 19.61 97487 chrX 102631346 102631346 G T rs369974181 BEX3 Nonsynonymous SNV G6W 0.009 0.003 0.003 0 11 1 0 1 3 0 0 0 4.673 97488 chr9 139402795 139402795 C T rs780582836 NOTCH1 Nonsynonymous SNV G1072S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 97489 chrX 18913269 18913269 G A rs769025893 PHKA2 Nonsynonymous SNV S1108L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 97490 chr10 33113498 33113498 A G rs757593351 CCDC7 Synonymous SNV A1078A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.168 97491 chr11 105623895 105623895 C T rs2229878 GRIA4 Synonymous SNV L146L 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 Benign 6.022 97492 chrX 53277370 53277370 C T rs2274308 IQSEC2 Synonymous SNV A836A 0.001 0 0.01 0 1 0 0 3 0 0 1 0 Benign 14.57 97493 chr8 36788657 36788657 C T rs60599552 KCNU1 Synonymous SNV D975D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 10.05 97494 chrX 54585017 54585017 C T rs780270239 GNL3L Nonsynonymous SNV T532M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 97495 chrX 21674412 21674412 G T rs758807546 KLHL34 Nonsynonymous SNV L499M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.733 97496 chr9 139748277 139748296 CCCTGTGGCAGAGCACAGGG - rs547669049 MAMDC4 W170Gfs*17 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 97497 chr10 35477214 35477214 T C CREM Nonsynonymous SNV S4P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 97498 chrX 11133032 11133032 G A rs746570741 HCCS Nonsynonymous SNV A60T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 97499 chrX 11133069 11133069 C T rs2070163 HCCS Nonsynonymous SNV A72V 0.02 0.003 0.024 4 24 1 0.01 7 5 0 2 2 Benign 4.815 97500 chr11 1080894 1080894 C T rs41453346 MUC2 Synonymous SNV Y426Y 0.011 0.018 0.014 5 13 7 0.013 4 0 0 0 0 7.565 97501 chr8 38884270 38884270 C T rs61753674 ADAM9 Synonymous SNV H357H 0.002 0.008 0.003 3 2 3 0.008 1 0 0 0 0 Benign/Likely benign 14.03 97502 chr9 140005383 140005383 G A rs117203759 DPP7 Nonsynonymous SNV A431V 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 10.26 97503 chrX 30327465 30327465 G T rs191365011 NR0B1 Nonsynonymous SNV H6N 0.007 0.003 0.01 3 8 1 0.008 3 2 0 1 0 Benign/Likely benign 13.65 97504 chr8 42563882 42563882 C T rs79124649 CHRNB3 Synonymous SNV I25I 0.006 0.008 0 8 7 3 0.021 0 0 0 0 0 Benign 8.622 97505 chrX 72433632 72433632 C T rs749623392 NAP1L2 Nonsynonymous SNV E233K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 97506 chr8 42611734 42611734 T G rs143385261 CHRNA6 Nonsynonymous SNV N188T 0.006 0.008 0 8 7 3 0.021 0 0 0 0 0 24.3 97507 chr22 51065593 51065593 C T rs80338815 ARSA 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Pathogenic 23.6 97508 chr9 140249209 140249209 C T rs140563508 EXD3 Synonymous SNV A258A 0.009 0.005 0.017 2 10 2 0.005 5 0 0 0 0 11.91 97509 chr8 53852607 53852607 T C rs138848391 NPBWR1 Nonsynonymous SNV I47T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 23.4 97510 chr8 54900770 54900770 C T rs190781971 TCEA1 Nonsynonymous SNV D103N 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 22.8 97511 chr8 12956081 12956081 G C rs149295187 DLC1 Nonsynonymous SNV H487Q 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 14.18 97512 chrX 99933222 99933222 T C SYTL4 Nonsynonymous SNV T638A 0.002 0 0 0 2 0 0 0 1 0 0 0 1.017 97513 chrX 48547370 48547370 C T rs781903491 WAS Nonsynonymous SNV A418V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.752 97514 chr8 133141984 133141984 T C rs112314858 KCNQ3 Nonsynonymous SNV H595R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.235 97515 chr8 42819535 42819535 A G rs748028186 HOOK3 Nonsynonymous SNV I233V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.72 97516 chr9 15307230 15307230 G C rs139180585 TTC39B Nonsynonymous SNV P31R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.68 97517 chr11 118081270 118081270 C T rs143034248 JAML Nonsynonymous SNV R80H 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 24.4 97518 chr8 54866657 54866657 A G rs113296379 RGS20 Synonymous SNV E19E 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 8.587 97519 chrX 139586218 139586218 C T SOX3 Nonsynonymous SNV M336I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.74 97520 chr8 55539275 55539275 G T rs16920621 RP1 Nonsynonymous SNV V945L 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 0.051 97521 chrX 39911440 39911440 C T rs375139386 BCOR Synonymous SNV T1678T 0.003 0.003 0 4 4 1 0.01 0 1 0 0 2 Benign 0.573 97522 chrX 39933218 39933218 T C rs746591131 BCOR Nonsynonymous SNV M461V 0.003 0.003 0 4 3 1 0.01 0 1 0 0 2 13.82 97523 chrX 140984706 140984706 C A rs369244347 MAGEC3 Nonsynonymous SNV P90T 0.002 0 0.007 0 2 0 0 2 0 0 1 0 3.941 97524 chr10 102568941 102568941 C G rs199724772 PAX2 Nonsynonymous SNV N289K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 19.4 97525 chr8 67342031 67342031 T C rs137894990 RRS1 Nonsynonymous SNV M222T 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 11.54 97526 chrX 14933868 14933868 G A MOSPD2 Nonsynonymous SNV V327I 0.003 0 0 0 3 0 0 0 1 0 0 0 13.08 97527 chrX 125686178 125686178 G T DCAF12L1 Nonsynonymous SNV D138E 0.002 0.005 0 0 2 2 0 0 1 1 0 0 22.6 97528 chr10 50824588 50824588 G A rs79914771 CHAT Synonymous SNV T109T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign/Likely benign 9.756 97529 chr11 11986037 11986037 C T rs768220091 DKK3 Nonsynonymous SNV A343T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 97530 chr8 71646036 71646036 G A rs145832461 XKR9 Nonsynonymous SNV A167T 0 0 0 2 0 0 0.005 0 0 0 0 0 8.229 97531 chr11 120040695 120040695 C T rs61900479 LOC107984399 0 0 0.092 0 0 0 0 27 0 0 2 0 6.962 97532 chr9 25678260 25678260 C A rs545286489 TUSC1 Synonymous SNV G20G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.9 97533 chrX 71363313 71363313 A C rs140433115 NHSL2 Synonymous SNV P1189P 0.011 0.008 0.007 2 13 3 0.005 2 4 1 1 1 0.204 97534 chrX 72433375 72433375 A G rs149675841 NAP1L2 Synonymous SNV H318H 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.34 97535 chrX 138698533 138698533 C T rs41304534 MCF2 Nonsynonymous SNV E328K 0.003 0 0 0 4 0 0 0 1 0 0 0 Likely benign 23.9 97536 chrX 153069334 153069334 T C rs200819237 PDZD4 Nonsynonymous SNV E486G 0.006 0 0.014 7 7 0 0.018 4 2 0 1 2 22.4 97537 chrX 153069336 153069336 C T rs782390087 PDZD4 Synonymous SNV E485E 0.006 0 0.014 7 7 0 0.018 4 2 0 1 2 8.33 97538 chr9 32634466 32634466 A T rs148047141 TAF1L Nonsynonymous SNV M371K 0.001 0 0 0 1 0 0 0 0 0 0 0 21 97539 chrX 153173273 153173273 C G rs782454472 ARHGAP4 Nonsynonymous SNV R917S 0.003 0 0 0 3 0 0 0 1 0 0 0 18.13 97540 chrX 153223257 153223257 C T rs3027888 HCFC1 Synonymous SNV T703T 0.025 0.016 0.017 8 29 6 0.021 5 4 1 1 3 Benign/Likely benign 15.72 97541 chr8 70536371 70536371 A G rs61747130 SULF1 Nonsynonymous SNV R597G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 7.423 97542 chrX 153581446 153581446 A G FLNA Nonsynonymous SNV V2042A 0.003 0 0 0 3 0 0 0 1 0 0 0 17.66 97543 chrX 153593080 153593080 C T FLNA Synonymous SNV S612S 0.003 0 0 0 3 0 0 0 1 0 0 0 14.93 97544 chrX 99663515 99663515 G A rs56307810 PCDH19 Synonymous SNV Y27Y 0.014 0.018 0.007 2 16 7 0.005 2 4 3 1 1 Benign/Likely benign 1.438 97545 chr9 34257025 34257025 C G rs144995838 KIF24 Synonymous SNV T860T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.449 97546 chrX 15599352 15599352 G A rs200909433 ACE2 Synonymous SNV G354G 0.003 0 0 0 3 0 0 0 1 0 0 0 1.495 97547 chr10 63958148 63958148 - T rs759252078 RTKN2 Frameshift insertion I450Nfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 97548 chr8 77766564 77766564 G A rs751193402 ZFHX4 Synonymous SNV P2469P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.248 97549 chr9 35390659 35390659 C T rs145345718 UNC13B Synonymous SNV S633S 0.019 0.021 0 7 22 8 0.018 0 0 0 0 0 18.2 97550 chr10 101564012 101564012 C G rs113646094 ABCC2 Synonymous SNV T482T 0.009 0.005 0.014 5 11 2 0.013 4 0 0 0 0 Benign/Likely benign 8.213 97551 chr9 35717701 35717701 G A TLN1 Nonsynonymous SNV T693I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 97552 chr8 92378910 92378910 A G rs35781790 SLC26A7 Nonsynonymous SNV N230D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.95 97553 chrX 36032939 36032939 T C rs187777182 CFAP47 Nonsynonymous SNV S1156P 0.007 0 0 0 8 0 0 0 3 0 0 0 2.313 97554 chr1 1262837 1262837 C T rs369310216 CPTP Synonymous SNV R113R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 9.2 97555 chrX 36368205 36368205 A G rs16998547 CFAP47 Nonsynonymous SNV I2886V 0.006 0 0 0 7 0 0 0 2 0 0 0 0.042 97556 chrX 37663234 37663234 G A rs2228117 CYBB Synonymous SNV K334K 0.007 0 0.007 0 8 0 0 2 3 0 1 0 Benign 5.995 97557 chr8 144992049 144992049 G A rs148865812 PLEC Synonymous SNV I3966I 0.01 0.003 0.02 3 12 1 0.008 6 0 0 0 0 Benign 5.708 97558 chr10 119043919 119043919 A G rs143726914 PDZD8 Synonymous SNV S775S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 97559 chrX 152225899 152225899 G A rs145960568 PNMA3 Nonsynonymous SNV E163K 0.003 0 0 3 4 0 0.008 0 2 0 0 1 13.47 97560 chrX 152771484 152771484 G A rs782239175 BGN Nonsynonymous SNV R172H 0.003 0 0 3 4 0 0.008 0 2 0 0 1 23.2 97561 chr9 71820123 71820123 A G rs151117327 TJP2 Nonsynonymous SNV K16E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.8 97562 chr9 72131587 72131587 G A rs146979919 APBA1 Synonymous SNV D180D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.064 97563 chr9 72930477 72930477 A G rs201289280 SMC5 Nonsynonymous SNV R597G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 97564 chr8 145580028 145580028 A G rs72695499 FBXL6 Nonsynonymous SNV L386P 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 24.3 97565 chrX 54225078 54225078 C T rs55830417 WNK3 Synonymous SNV P1637P 0.003 0 0 2 3 0 0.005 0 0 0 0 1 13.47 97566 chr1 3322097 3322097 C T rs2483221 PRDM16 Synonymous SNV R357R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 11.78 97567 chr11 128680854 128680854 G A rs371183121 FLI1 Nonsynonymous SNV V251M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 97568 chr10 75005791 75005791 C G rs752174379 DNAJC9 Nonsynonymous SNV E155D 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.967 97569 chr10 75187501 75187501 C T rs116126145 MSS51 Nonsynonymous SNV V83I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 97570 chrX 63411858 63411858 T C rs774349963 AMER1 Nonsynonymous SNV M437V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 97571 chr8 145689806 145689806 C A rs199783284 CYHR1 Stop gain G95X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.92 97572 chr9 78796465 78796465 A G rs753837956 PCSK5 Nonsynonymous SNV S719G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 97573 chr9 1057035 1057035 C T rs376933173 DMRT2 Nonsynonymous SNV S309L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.3 97574 chr11 133779120 133779120 G A IGSF9B Synonymous SNV P1386P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.09 97575 chr10 125769728 125769728 C T rs61740008 CHST15 Synonymous SNV R541R 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 10.96 97576 chrX 70443792 70443792 C T rs144717157 GJB1 Synonymous SNV L79L 0.002 0 0 2 2 0 0.005 0 0 0 0 1 Benign/Likely benign 7.753 97577 chrX 70443911 70443911 G A GJB1 Synonymous SNV E118E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.705 97578 chrX 70468016 70468016 G A rs142048779 ZMYM3 Synonymous SNV S657S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.354 97579 chrX 70824398 70824398 C T rs772912590 GCNA Nonsynonymous SNV P424L 0.005 0.005 0 0 6 2 0 0 2 1 0 0 10.13 97580 chr11 1606382 1606402 GAGCCACAGCCCCCACAGCCG - rs767063388 KRTAP5-1 C31_G37del 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 97581 chr10 81373846 81373846 C T rs4253528 SFTPA1 Stop gain R242X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 37 97582 chr9 111745483 111745483 G A rs140530317 CTNNAL1 Nonsynonymous SNV P281L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.71 97583 chr9 111795699 111795699 T G rs200726668 TMEM245 Nonsynonymous SNV I828L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 97584 chr1 6529281 6529281 A G rs141100808 PLEKHG5 Synonymous SNV R690R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 0.015 97585 chr9 79922972 79922972 G C VPS13A Nonsynonymous SNV A1319P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.5 97586 chr9 84302323 84302323 G A rs141524882 TLE1 Synonymous SNV P17P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 97587 chr1 7998334 7998334 T G rs752678621 TNFRSF9 Nonsynonymous SNV T89P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.348 97588 chr10 121556976 121556976 T C rs145230512 INPP5F Nonsynonymous SNV M291T 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 9.715 97589 chr10 88703401 88703401 G A rs772327521 MMRN2 Synonymous SNV L380L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.723 97590 chr9 94487345 94487345 C T ROR2 Synonymous SNV E477E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.04 97591 chr1 9099957 9099957 T C rs148873763 SLC2A5 Nonsynonymous SNV I116V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.009 97592 chr11 18723454 18723454 G A rs141369005 TMEM86A Synonymous SNV A207A 0.009 0.008 0.024 1 11 3 0.003 7 0 0 0 0 10.28 97593 chr1 9642424 9642424 G T rs61741102 SLC25A33 Synonymous SNV L277L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.557 97594 chr10 101716484 101716484 G A rs3750715 DNMBP Synonymous SNV V249V 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 6.71 97595 chr9 117110053 117110053 G A rs759466249 AKNA Nonsynonymous SNV R998C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.2 97596 chr11 1977505 1977505 C T rs149980789 MRPL23 Nonsynonymous SNV T106M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.5 97597 chr9 977044 977044 G C DMRT3 Nonsynonymous SNV V15L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 97598 chr9 97767487 97767487 G A rs546755654 AOPEP Synonymous SNV R576R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.47 97599 chr9 97912259 97912259 G C rs140781259 FANCC Nonsynonymous SNV P211R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 97600 chr8 22972207 22972207 G A rs74480765 TNFRSF10C Synonymous SNV P68P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 5.905 97601 chrX 100503226 100503226 C T rs373791161 DRP2 Synonymous SNV N389N 0.003 0 0 0 4 0 0 0 2 0 0 0 Benign 13.17 97602 chr9 117103845 117103845 C T rs113207990 AKNA Synonymous SNV S1226S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 97603 chr10 105185011 105185011 A T rs150905850 PDCD11 Nonsynonymous SNV T1012S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.786 97604 chr10 127441421 127441421 A G rs201114554 EDRF1 Nonsynonymous SNV M1077V 0.003 0.01 0.003 5 3 4 0.013 1 0 0 0 0 16.01 97605 chr8 23306392 23306392 A G rs149064930 ENTPD4 Synonymous SNV C23C 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 9.572 97606 chr9 123742478 123742478 G A rs373730400 C5 Nonsynonymous SNV P1187S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.429 97607 chr9 123779781 123779781 C T rs7860179 C5 Synonymous SNV L581L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 10.91 97608 chr9 123782278 123782278 G A rs2230215 C5 Synonymous SNV D500D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 6.222 97609 chr9 123782415 123782415 T C rs2230213 C5 Nonsynonymous SNV R455G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 11.05 97610 chr1 7806012 7806012 C T rs147636995 CAMTA1 Nonsynonymous SNV A536V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 34 97611 chr9 123850719 123850719 A G rs35861072 CNTRL Nonsynonymous SNV I39V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.224 97612 chr9 124535111 124535111 C T rs34301794 DAB2IP Synonymous SNV D644D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.477 97613 chr11 247329 247329 C T rs28927679 PSMD13 Nonsynonymous SNV S152L 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 24 97614 chr10 98744465 98744465 G C rs564076878 LCOR Synonymous SNV T1416T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 97615 chr10 17636310 17636310 C T rs55951542 HACD1 Synonymous SNV P226P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.56 97616 chr10 99079732 99079732 G T rs375567122 FRAT1 Synonymous SNV R174R 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 10.97 97617 chrX 119575718 119575718 G A rs371959861 LAMP2 Synonymous SNV Y320Y 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 5.809 97618 chrX 119760618 119760618 T C C1GALT1C1 Nonsynonymous SNV D135G 0.002 0 0 0 2 0 0 0 1 0 0 0 13.83 97619 chr10 111884023 111884023 C G rs778219063 ADD3 Synonymous SNV T464T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.669 97620 chr1 15616132 15616132 G A rs116072930 FHAD1 Nonsynonymous SNV D180N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.041 97621 chr10 19498534 19498534 G A rs936592795 MALRD1 Synonymous SNV L972L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.07 97622 chr11 27402456 27402456 T A rs148368800 LGR4 Synonymous SNV P248P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.11 97623 chr10 112269908 112269908 C G rs76989225 DUSP5 Nonsynonymous SNV I293M 0.002 0.003 0.02 0 2 1 0 6 0 0 0 0 23.7 97624 chr9 125330714 125330714 G A rs75296357 OR1L8 Nonsynonymous SNV L15F 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 26.7 97625 chrX 129147028 129147028 G A rs139887979 BCORL1 Nonsynonymous SNV D94N 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 22.6 97626 chr1 15668372 15668372 G A rs75416704 FHAD1 Nonsynonymous SNV G683R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.38 97627 chr10 99349784 99349784 G A rs144811504 C10orf62 Nonsynonymous SNV E44K 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 23 97628 chr1 15687170 15687170 A G rs147153673 FHAD1 Nonsynonymous SNV E956G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 97629 chr10 19884125 19884125 C T rs16919132 MALRD1 Nonsynonymous SNV P1895S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.19 97630 chr1 15752379 15752379 G A rs34866686 EFHD2 Synonymous SNV G107G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 9.7 97631 chr10 134014423 134014423 C T rs148495220 DPYSL4 Nonsynonymous SNV A349V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26.6 97632 chr11 284488 284488 G A rs376822405 NLRP6 Nonsynonymous SNV D795N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 97633 chr10 19896799 19896799 T G rs16919148 MALRD1 Nonsynonymous SNV M2013R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.017 97634 chr10 99640006 99640006 C A CRTAC1 Nonsynonymous SNV A607S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 97635 chr9 125424189 125424189 C G rs73571128 OR1L1 Nonsynonymous SNV I65M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.87 97636 chr10 134692953 134692953 C T rs140205673 CFAP46 Nonsynonymous SNV A1328T 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 0.027 97637 chr10 26856004 26856004 G T rs200232575 APBB1IP Nonsynonymous SNV G530C 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 1.416 97638 chr9 126135519 126135519 C T rs116379540 CRB2 Synonymous SNV R903R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 13.68 97639 chr9 126144809 126144809 G A rs73573314 DENND1A Synonymous SNV D655D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.139 97640 chr10 27687638 27687638 C T rs142594066 PTCHD3 Nonsynonymous SNV R630Q 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 22.8 97641 chr1 17371286 17371286 T C rs35962811 SDHB Nonsynonymous SNV H57R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.003 97642 chrX 14748338 14748338 G A rs761188667 GLRA2 Nonsynonymous SNV V364I 0.003 0 0 1 3 0 0.003 0 1 0 0 0 15.3 97643 chr9 127287114 127287114 A G rs60459940 NR6A1 Synonymous SNV L410L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.411 97644 chr10 27688100 27688100 C T rs772042808 PTCHD3 Nonsynonymous SNV R476Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.024 97645 chr9 127566587 127566587 C A rs75414524 OLFML2A Synonymous SNV T164T 0.01 0.008 0 8 12 3 0.021 0 0 0 0 0 22 97646 chr9 127615858 127615858 C A rs61741956 WDR38 Nonsynonymous SNV F16L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 12.38 97647 chr1 17413127 17413127 G A rs35184728 PADI2 Synonymous SNV Y241Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 6.215 97648 chr1 17531750 17531750 T C rs142496244 PADI1 Nonsynonymous SNV M13T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 97649 chr9 127617931 127617931 G A rs114731914 WDR38 Nonsynonymous SNV R70H 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 26.2 97650 chr9 127650631 127650631 A C rs16927704 GOLGA1 Synonymous SNV T602T 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 0.155 97651 chr8 37704631 37704631 C T rs142395337 BRF2 Nonsynonymous SNV A93T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 33 97652 chr10 135368906 135368906 G C rs138177213 SYCE1 Synonymous SNV V289V 0.007 0.013 0.017 2 8 5 0.005 5 0 0 0 0 Benign 2.225 97653 chr1 17664622 17664622 C T rs111275753 PADI4 Synonymous SNV C166C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.577 97654 chr10 30317712 30317712 G A rs201438568 JCAD Synonymous SNV S455S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.519 97655 chr10 120789813 120789821 CCGCCGCCG - rs1032169188 NANOS1 A171_A173del 0.003 0 0.007 1 4 0 0.003 2 1 0 0 0 97656 chr9 129265500 129265500 C T rs62640044 MVB12B Synonymous SNV L306L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 16.47 97657 chr11 376331 376331 T A rs149045708 B4GALNT4 Nonsynonymous SNV F426Y 0.041 0.042 0.054 26 48 16 0.067 16 2 0 0 1 21.8 97658 chr9 130197428 130197428 C T rs115312374 ZNF79 Synonymous SNV L31L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.26 97659 chr11 4109932 4109932 A T rs772759124 STIM1 Nonsynonymous SNV R514S 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 19.92 97660 chr8 42259490 42259490 G A rs752791425 VDAC3 Nonsynonymous SNV A171T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.7 97661 chr9 130885293 130885293 C G rs61734646 PTGES2 Nonsynonymous SNV K269N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 16.04 97662 chr8 55533754 55533754 C T rs142600056 RP1 Synonymous SNV L76L 0.009 0.01 0.007 7 10 4 0.018 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.73 97663 chr9 131038429 131038429 A C rs56321718 SWI5 Nonsynonymous SNV Q2P 0.002 0.01 0.003 2 2 4 0.005 1 0 0 0 0 0.37 97664 chr9 131038482 131038482 C T rs61136271 SWI5 Nonsynonymous SNV R20C 0.002 0.01 0.003 2 2 4 0.005 1 0 0 0 0 13.34 97665 chr9 131038643 131038643 C A rs73672486 SWI5 Nonsynonymous SNV N73K 0.002 0.01 0.007 2 2 4 0.005 2 0 0 0 0 16.51 97666 chr11 45924031 45924031 G A rs746604189 MAPK8IP1 Nonsynonymous SNV R238H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 97667 chr10 43600559 43600559 T C rs139790943 RET Nonsynonymous SNV V8A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 97668 chr10 124459131 124459131 C T rs369994006 C10orf120 Nonsynonymous SNV R59Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.51 97669 chr11 46564927 46564927 G C rs139294318 AMBRA1 Nonsynonymous SNV P214A 0.003 0 0.01 0 3 0 0 3 0 0 0 0 17.47 97670 chr9 131597853 131597853 G A rs770205049 KYAT1 Nonsynonymous SNV R267C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27 97671 chr8 59728189 59728189 G A rs201823077 TOX Nonsynonymous SNV S367L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24 97672 chr10 45878040 45878040 C T rs750603646 ALOX5 Nonsynonymous SNV T87M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 97673 chr9 131476511 131476511 G A rs73669966 PKN3 Nonsynonymous SNV G450S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.2 97674 chr9 132401757 132401757 A G rs149231958 ASB6 Nonsynonymous SNV I109T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.1 97675 chr9 131550655 131550655 A G rs35557291 TBC1D13 Synonymous SNV A22A 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 7.479 97676 chr9 131669494 131669494 C T rs16930745 LRRC8A Synonymous SNV Y17Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 11.33 97677 chr9 131670901 131670901 C T rs11999276 LRRC8A Synonymous SNV P486P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 1.601 97678 chr9 131671246 131671246 T C rs16930757 LRRC8A Synonymous SNV C601C 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 0.012 97679 chr9 131873885 131873885 T C rs60764362 PTPA Synonymous SNV A2A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.1 97680 chr11 101832708 101832708 A T rs3740930 CEP126 Synonymous SNV T314T 0.009 0.01 0.027 9 10 4 0.023 8 0 0 1 0 0.001 97681 chr8 6599270 6599270 G A rs151313617 AGPAT5 Nonsynonymous SNV R195H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 97682 chr11 47776157 47776157 C T FNBP4 Nonsynonymous SNV E127K 0 0 0.007 0 0 0 0 2 0 0 0 0 20.4 97683 chr9 132638497 132638497 G A rs774009853 USP20 Nonsynonymous SNV E797K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 35 97684 chr1 23281917 23281917 G T rs72655581 LACTBL1 Nonsynonymous SNV L219M 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 26.4 97685 chr8 67478328 67478328 T C rs200196635 MYBL1 Nonsynonymous SNV K701E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 97686 chr10 47087389 47087389 C T rs145691368 NPY4R, NPY4R2 Synonymous SNV T202T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.65 97687 chr10 129905591 129905591 T C MKI67 Nonsynonymous SNV T1145A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 97688 chr1 19446695 19446695 C G rs147827042 UBR4 Nonsynonymous SNV C3430S 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 22.9 97689 chr9 133907453 133907455 CTC - LAMC3 L235del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 97690 chr8 73848757 73848757 T C KCNB2 Synonymous SNV P389P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.182 97691 chr10 13364977 13364977 A G rs761098289 SEPHS1 Synonymous SNV H207H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.439 97692 chr1 21011408 21011408 G A rs766940874 KIF17 Nonsynonymous SNV P709S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.292 97693 chr1 21011510 21011510 C T rs558760 KIF17 Nonsynonymous SNV V675I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.989 97694 chr11 1031043 1031043 T A MUC6 Nonsynonymous SNV E196D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.08 97695 chr8 86180769 86180769 A G rs143754749 CA13 Synonymous SNV T194T 0.01 0.003 0 2 12 1 0.005 0 0 0 0 0 8.608 97696 chr10 32635766 32635766 G C rs775356873 EPC1 Synonymous SNV P26P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.79 97697 chr8 87738778 87738778 C T rs146688972 CNGB3 Nonsynonymous SNV G107R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Likely benign 8.806 97698 chr1 26387820 26387820 G A rs199936688 TRIM63 Nonsynonymous SNV P113L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 33 97699 chr1 22156571 22156571 G C rs62642501 HSPG2 Synonymous SNV P3896P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 13.4 97700 chr1 22168033 22168033 G A rs61743674 HSPG2 Synonymous SNV H3110H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 10.79 97701 chr9 135862139 135862139 C T rs764276098 GFI1B Nonsynonymous SNV P25L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.987 97702 chr1 22175460 22175460 C T rs62642517 HSPG2 Nonsynonymous SNV R2505H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 19.97 97703 chrX 85128186 85128186 C A rs148301015 CHM Synonymous SNV L547L 0.003 0 0 1 4 0 0.003 0 1 0 0 0 Benign 13.46 97704 chr1 22207039 22207039 T C rs758378141 HSPG2 Nonsynonymous SNV H672R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 97705 chr10 45480313 45480313 C T rs35521977 RASSF4 Synonymous SNV D142D 0.008 0.01 0.017 5 9 4 0.013 5 0 0 0 0 11.73 97706 chr9 137708884 137708884 C T rs61739195 COL5A1 Nonsynonymous SNV P1379S 0.008 0.016 0.02 5 9 6 0.013 6 0 0 0 0 Benign/Likely benign 25.8 97707 chr1 22211273 22211273 G A rs187648591 HSPG2 Synonymous SNV L498L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.768 97708 chr1 27124130 27124130 C T rs146969255 PIGV Nonsynonymous SNV P426L 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 97709 chr10 46970778 46970778 C T LOC102724488 Nonsynonymous SNV S12N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.31 97710 chr10 100183515 100183515 G C rs17109850 HPS1 Synonymous SNV L389L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 4.406 97711 chr9 138714620 138714620 G A rs78774780 CAMSAP1 Synonymous SNV S629S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.618 97712 chr1 27877216 27877216 C T rs147276945 AHDC1 Nonsynonymous SNV V471M 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign/Likely benign 26.1 97713 chr9 139100889 139100889 G A rs56231911 QSOX2 Synonymous SNV L594L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.342 97714 chr10 17156095 17156095 C G rs146035059 CUBN Nonsynonymous SNV G272R 0.003 0 0 0 3 0 0 0 0 0 0 0 8.145 97715 chr9 101806908 101806908 - G COL15A1 Frameshift insertion K880Efs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 97716 chr9 138516189 138516189 G A rs187986471 GLT6D1 Synonymous SNV H195H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.783 97717 chr10 48388880 48388880 G A rs782697392 RBP3 Synonymous SNV A666A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.478 97718 chr10 48389675 48389675 G A rs781987959 RBP3 Synonymous SNV P401P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.406 97719 chr10 61973257 61973257 T G rs73269474 ANK3 Synonymous SNV T286T 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Benign 8.847 97720 chr10 63852691 63852691 C T ARID5B Nonsynonymous SNV L914F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 97721 chr1 32674784 32674784 A G rs190147459 DCDC2B Synonymous SNV Q30Q 0.005 0.01 0.014 6 6 4 0.015 4 0 0 0 0 0.017 97722 chr11 113683181 113683181 T C rs757042486 USP28 Nonsynonymous SNV N264D 0.003 0 0 0 4 0 0 0 0 0 0 0 23.8 97723 chr9 139391543 139391543 C T rs3812596 NOTCH1 Synonymous SNV P2216P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.77 97724 chr10 19787450 19787450 A C rs770636820 MALRD1 Nonsynonymous SNV E1732A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 97725 chr9 139370976 139370976 T G rs777914618 SEC16A Synonymous SNV A364A 0 0 0 3 0 0 0.008 0 0 0 0 0 0.349 97726 chr9 108301584 108301584 A G rs565639084 FSD1L Synonymous SNV L440L 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 9.048 97727 chr9 139402715 139402715 G A rs61751546 NOTCH1 Synonymous SNV S1098S 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 Benign/Likely benign 10.14 97728 chr10 64911911 64911911 A G rs7910455 NRBF2 Synonymous SNV A29A 0.017 0.016 0.014 16 20 6 0.041 4 0 0 0 0 0.053 97729 chr10 69792613 69792613 A T rs138028356 HERC4 Synonymous SNV P233P 0.005 0.005 0.01 5 6 2 0.013 3 0 0 0 0 Benign 0.123 97730 chr9 139840919 139840919 C T rs553764725 C8G Nonsynonymous SNV R153C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 97731 chr9 139925446 139925446 C T rs201821837 FUT7 Nonsynonymous SNV G249S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.4 97732 chr11 117063003 117063003 G A rs17120425 SIDT2 Nonsynonymous SNV V636I 0.009 0.005 0.01 5 10 2 0.013 3 0 0 0 0 0.676 97733 chr11 117097931 117097931 C T rs45528535 PCSK7 Synonymous SNV A237A 0.013 0.003 0.017 2 15 1 0.005 5 0 0 1 0 10.74 97734 chr10 70645296 70645296 C T rs41278530 STOX1 Nonsynonymous SNV L582F 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 17.09 97735 chr9 139981466 139981466 G A rs371734726 MAN1B1 Synonymous SNV E5E 0 0 0 2 0 0 0.005 0 0 0 0 0 5.61 97736 chr9 140127352 140127352 A C rs778685850 SLC34A3 Nonsynonymous SNV I141L 0 0 0 3 0 0 0.008 0 0 0 0 0 26.5 97737 chr10 60573728 60573728 C T rs748041932 BICC1 Nonsynonymous SNV R839C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 33 97738 chr11 118850185 118850185 G A rs782778880 FOXR1 Nonsynonymous SNV D140N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 97739 chr9 140325554 140325554 T G rs148308245 NOXA1 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.61 97740 chr10 6152058 6152058 C T rs61731884 RBM17 Synonymous SNV T224T 0.006 0.01 0.003 6 7 4 0.015 1 0 0 0 0 17.11 97741 chr11 119025496 119025496 C T rs759467898 ABCG4 Nonsynonymous SNV T186M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 97742 chr10 64949071 64949071 T C rs200368807 JMJD1C Nonsynonymous SNV I1924V 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Likely benign 0.024 97743 chr9 14759791 14759791 G C rs751024562 FREM1 Nonsynonymous SNV D307E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.39 97744 chr11 55563362 55563362 G A rs145501127 OR5D14 Nonsynonymous SNV V111M 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 7.383 97745 chr10 33545311 33545311 G A rs16934288 NRP1 Synonymous SNV T249T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.4 97746 chr10 73571133 73571133 G A rs558094423 CDH23 Nonsynonymous SNV V807I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 97747 chr10 115663471 115663471 T C rs10509995 NHLRC2 Synonymous SNV D560D 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 0.917 97748 chr10 428685 428685 G A rs778666245 DIP2C Synonymous SNV C631C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 97749 chr10 46968675 46968679 ATCTC - rs557452410 LOC102724488, SYT15 R139Lfs*53 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 97750 chr1 44446932 44446932 G A rs139961353 B4GALT2 Nonsynonymous SNV V34I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 97751 chr1 45288835 45288835 A T rs200049774 PTCH2 Nonsynonymous SNV F1088Y 0.005 0 0 0 6 0 0 0 0 0 0 0 25 97752 chr1 45293833 45293833 C T PTCH2 Synonymous SNV L580L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.271 97753 chr9 125239796 125239796 G C rs73567906 OR1J1 Nonsynonymous SNV T137S 0.03 0.016 0.027 6 35 6 0.015 8 0 0 0 0 0.001 97754 chr9 125240017 125240017 A G rs73558876 OR1J1 Synonymous SNV L63L 0.03 0.016 0.027 6 35 6 0.015 8 0 0 0 0 0.595 97755 chr10 120867503 120867503 C G DENND10 Nonsynonymous SNV L27V 0.002 0 0 0 2 0 0 0 0 0 0 0 26 97756 chr10 46999435 46999435 A T rs147805606 GPRIN2 Synonymous SNV S185S 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 0.038 97757 chr1 45974679 45974679 G A rs202189863 MMACHC Nonsynonymous SNV R157H 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 23.4 97758 chr9 34241609 34241609 T C UBAP1 Synonymous SNV L260L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.188 97759 chr10 73500599 73500599 C T rs10999978 CDH23 Synonymous SNV G1503G 0.012 0.013 0.007 11 14 5 0.028 2 0 0 0 0 Benign 14.71 97760 chr11 1244416 1244416 G A rs1031139806 MUC5B Synonymous SNV P21P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.601 97761 chr9 35547572 35547572 C T RUSC2 Nonsynonymous SNV P352S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 97762 chr10 73551088 73551088 G A rs55964031 CDH23 Synonymous SNV P2083P 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 Benign/Likely benign 11.98 97763 chr10 73553177 73553177 C T rs41281332 CDH23 Synonymous SNV I2164I 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 Benign/Likely benign 10.61 97764 chr10 49659113 49659113 G A rs45538236 ARHGAP22 Synonymous SNV V263V 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 0.308 97765 chr9 35906583 35906583 - CCA HRCT1 H105_P106insH 0.01 0 0 0 12 0 0 0 0 0 0 0 97766 chr10 73574948 73574948 C T rs73277900 CDH23 Synonymous SNV N188N 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 Benign/Likely benign 14.53 97767 chr10 82098314 82098314 T C rs145429415 DYDC1 Nonsynonymous SNV D138G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.8 97768 chr10 74619083 74619083 C T rs34072881 MCU Synonymous SNV D123D 0.013 0.008 0 7 15 3 0.018 0 1 0 0 0 12.9 97769 chr1 51171506 51171506 G A rs148588882 FAF1 Synonymous SNV V203V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.78 97770 chr9 3898876 3898876 G A rs201490424 GLIS3-AS1 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 2.726 97771 chr9 4118287 4118287 C G rs138497710 GLIS3 Nonsynonymous SNV Q242H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 97772 chr1 52520704 52520704 A G rs141609799 TXNDC12 Nonsynonymous SNV I22T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.2 97773 chr9 712793 712793 A G KANK1 Nonsynonymous SNV D518G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.124 97774 chr11 57480204 57480204 C T rs35186072 TMX2 Synonymous SNV L38L 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 Benign 19.63 97775 chr10 127429604 127429604 C T rs17153494 EDRF1 Synonymous SNV S701S 0.014 0.005 0.01 5 17 2 0.013 3 0 0 0 0 17.29 97776 chr1 45286365 45286365 A G PTCH2 Nonsynonymous SNV I1146T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.497 97777 chr11 129785593 129785593 C T PRDM10 Nonsynonymous SNV V744I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 97778 chr11 129980530 129980530 G A rs758333669 APLP2 Nonsynonymous SNV R126H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.57 97779 chr10 61083750 61083750 T G rs149936364 FAM13C Synonymous SNV P147P 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 14.92 97780 chr10 6274860 6274860 C T rs145555537 PFKFB3 Nonsynonymous SNV T514I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.456 97781 chr11 1309869 1309869 G A rs116939577 TOLLIP Synonymous SNV L118L 0.012 0.008 0.017 1 14 3 0.003 5 0 0 0 0 12.66 97782 chr10 63188710 63188710 A G rs758432985 TMEM26 Synonymous SNV S193S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.712 97783 chr1 47013430 47013430 G A rs758129392 KNCN Nonsynonymous SNV P93L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 97784 chr9 131609015 131609015 C T rs138304702 KYAT1 Nonsynonymous SNV E74K 0.011 0.003 0.01 1 13 1 0.003 3 0 0 0 0 0.985 97785 chr10 99116861 99116861 C T rs562464585 RRP12 Nonsynonymous SNV R1195H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.35 97786 chr9 8319926 8319926 T C rs1013575329 PTPRD Nonsynonymous SNV I1452V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.5 97787 chr9 86616761 86616761 C T rs140035310 RMI1 Nonsynonymous SNV P287L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.376 97788 chr1 60338623 60338623 A G rs747030936 HOOK1 Nonsynonymous SNV T725A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.132 97789 chr9 90322074 90322074 G A rs761921766 DAPK1 Nonsynonymous SNV R1363Q 0.002 0 0 4 2 0 0.01 0 0 0 0 0 8.161 97790 chr11 100998758 100998758 G C rs771560904 PGR Synonymous SNV A348A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.206 97791 chr11 17608033 17608033 C T rs61910692 OTOG Synonymous SNV H936H 0.009 0.016 0 11 10 6 0.028 0 0 0 0 0 Benign 13.54 97792 chr9 8486142 8486142 A G rs151005956 PTPRD Nonsynonymous SNV V892A 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Benign 11.22 97793 chr1 63329789 63329789 C T rs200697610 ATG4C Stop gain Q446X 0.003 0 0 0 3 0 0 0 0 0 0 0 36 97794 chr9 95610670 95610670 G T rs143919816 ZNF484 Nonsynonymous SNV N97K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.022 97795 chr11 18591780 18591780 T C rs200821433 UEVLD Nonsynonymous SNV Y91C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.2 97796 chr10 17659265 17659265 G C rs118189437 HACD1 Nonsynonymous SNV T25R 0.02 0.016 0.017 7 24 6 0.018 5 0 0 0 0 10.09 97797 chr9 990932 990932 C G rs767839121 DMRT3 Nonsynonymous SNV S449C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.32 97798 chrX 100169429 100169429 T C rs145111887 XKRX Synonymous SNV V416V 0.007 0.01 0.01 2 8 4 0.005 3 2 1 1 1 0.074 97799 chr11 613337 613337 C T rs765147452 IRF7 Nonsynonymous SNV R340Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.1 97800 chr11 61548482 61548482 C T rs756889282 MYRF Nonsynonymous SNV T811M 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 97801 chr10 74994619 74994619 T - FAM149B1 L466Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 97802 chr11 61916013 61916015 AGA - rs771856880 INCENP K757del 0 0 0.007 0 0 0 0 2 0 0 0 0 97803 chrX 107225110 107225110 C T rs143128038 TEX13B Nonsynonymous SNV G83E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 97804 chrX 107403705 107403705 T C COL4A6 Nonsynonymous SNV N1448D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 97805 chr11 62417048 62417048 G A rs774253450 INTS5 Synonymous SNV H168H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.493 97806 chr11 62432895 62432895 C T rs770046312 SNORA57 0 0 0.007 0 0 0 0 2 0 0 0 0 17.62 97807 chrX 110963365 110963365 A G rs7063657 ALG13 Synonymous SNV P431P 0.019 0.013 0.024 3 22 5 0.008 7 5 0 2 1 Benign 2.658 97808 chr10 30336682 30336682 T C rs138575264 JCAD Synonymous SNV P20P 0.019 0.01 0 7 22 4 0.018 0 1 0 0 1 0.045 97809 chrX 110489871 110489871 A T rs34550022 CAPN6 Synonymous SNV T620T 0.012 0.003 0.003 5 14 1 0.013 1 3 0 0 2 0.032 97810 chrX 110496310 110496310 G A rs17885163 CAPN6 Synonymous SNV N144N 0.018 0.008 0.01 7 21 3 0.018 3 5 1 1 2 7.233 97811 chr1 85742155 85742155 G A rs71585147 LOC646626 0.009 0.005 0.003 1 11 2 0.003 1 1 0 0 0 9.94 97812 chr11 1018216 1018216 T C rs750487578 MUC6 Nonsynonymous SNV T1529A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.001 97813 chr11 1018217 1018217 G A rs12422096 MUC6 Synonymous SNV H1528H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.009 97814 chr11 1018223 1018223 A G MUC6 Synonymous SNV H1526H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.005 97815 chr10 88419152 88419152 G T rs148282551 OPN4 Nonsynonymous SNV V243L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 33 97816 chr1 89352988 89352988 T C GTF2B Nonsynonymous SNV Y27C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 97817 chr9 139568339 139568339 G A rs116951119 AGPAT2 Synonymous SNV S202S 0.014 0.013 0.01 5 17 5 0.013 3 0 0 0 0 Benign 9.327 97818 chr11 1018321 1018321 C T rs796073717 MUC6 Nonsynonymous SNV G1494R 0.016 0.01 0.007 1 19 4 0.003 2 0 0 0 0 3.222 97819 chr10 44873200 44873200 C A rs17880170 CXCL12 Synonymous SNV V140V 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 3.366 97820 chr10 90681097 90681097 T C STAMBPL1 Nonsynonymous SNV Y367H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 97821 chr9 139701301 139701301 G T rs139238147 CCDC183 Nonsynonymous SNV M457I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 4.146 97822 chr11 64067110 64067110 C T rs201234773 KCNK4 Nonsynonymous SNV P365L 0 0 0.01 0 0 0 0 3 0 0 0 0 23.4 97823 chrX 138664652 138664652 G A rs758379764 MCF2 Nonsynonymous SNV R806W 0.003 0 0 0 3 0 0 0 0 0 0 0 18.22 97824 chr11 64658378 64658378 G A rs67679485 MIR194-2HG 0 0 0.014 0 0 0 0 4 0 0 2 0 1.161 97825 chr11 34158274 34158274 G A rs145482727 NAT10 Nonsynonymous SNV R633H 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 16.65 97826 chr1 92649590 92649590 A G rs61745605 KIAA1107 Synonymous SNV A1181A 0.006 0 0 0 7 0 0 0 0 0 0 0 0.416 97827 chr11 1029349 1029349 C T rs201771202 MUC6 Nonsynonymous SNV R385H 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 15.13 97828 chr10 95119589 95119589 C T rs199817619 MYOF 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 97829 chr9 140130565 140130565 G T SLC34A3 Synonymous SNV L499L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 7.996 97830 chr1 94884043 94884043 C T rs371364095 ABCD3 Synonymous SNV A3A 0.012 0.003 0.003 1 14 1 0.003 1 0 0 0 0 18.21 97831 chrX 151092925 151092925 C T rs199984362 MAGEA4 Synonymous SNV P263P 0.004 0.01 0 2 5 4 0.005 0 0 1 0 0 9.028 97832 chr10 48387980 48387980 G A rs41284960 RBP3 Synonymous SNV S966S 0.005 0.005 0.024 5 6 2 0.013 7 0 0 2 0 Likely benign 0.084 97833 chr11 65211735 65211738 TGTG - NEAT1 0 0 0.014 0 0 0 0 4 0 0 2 0 97834 chr10 48413851 48413851 G A rs148730910 GDF2 Synonymous SNV I339I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 1.3 97835 chr10 4879748 4879748 T G rs76596595 AKR1E2 Nonsynonymous SNV L186W 0.013 0.003 0.027 8 15 1 0.021 8 0 0 0 0 25.3 97836 chr9 140358896 140358896 A T rs35177111 PNPLA7 Nonsynonymous SNV L993M 0.012 0.005 0.014 1 14 2 0.003 4 0 0 0 0 0.017 97837 chr9 140605426 140605426 C T rs550666951 EHMT1 Nonsynonymous SNV P10L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.17 97838 chrX 153171401 153171401 G A rs143055328 AVPR2 Synonymous SNV A147A 0.008 0.018 0 4 9 7 0.01 0 1 1 0 1 Benign 2.032 97839 chr10 98760874 98760874 C G rs757092109 SLIT1 Nonsynonymous SNV A1534P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 97840 chr10 50533386 50533386 C T rs41306409 C10orf71 Synonymous SNV N932N 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 9.927 97841 chr10 50533909 50533909 G A rs770899878 C10orf71 Nonsynonymous SNV V1107I 0.009 0.005 0 3 11 2 0.008 0 0 0 0 1 8.276 97842 chr11 45925554 45925554 A G MAPK8IP1 Nonsynonymous SNV H503R 0.002 0 0 0 2 0 0 0 0 0 0 0 24 97843 chr11 66102191 66102191 G A rs199499018 RIN1 Nonsynonymous SNV P332L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.2 97844 chr11 1093618 1093618 A C rs879124214 MUC2 Nonsynonymous SNV M1813L 0.018 0.023 0.031 8 21 9 0.021 9 0 0 0 0 0.004 97845 chr11 66240774 66240774 G C PELI3 Synonymous SNV G66G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.033 97846 chr10 52573772 52573772 C T rs41274050 A1CF Nonsynonymous SNV G390S 0.009 0.005 0.01 0 10 2 0 3 0 0 0 0 Likely benign 23.8 97847 chr11 110501432 110501432 C T rs138034862 ARHGAP20 Nonsynonymous SNV R68Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.71 97848 chr11 101344239 101344239 C T rs199611561 TRPC6 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.2 97849 chr11 6703527 6703527 C T rs555831023 MRPL17 Nonsynonymous SNV R117Q 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 97850 chrX 22291141 22291141 T G rs369622139 CBLL2 Nonsynonymous SNV C11W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.327 97851 chrX 23411045 23411045 T C PTCHD1 Synonymous SNV A470A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 97852 chr9 2645733 2645733 A C VLDLR Nonsynonymous SNV K450T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 97853 chr9 2645734 2645734 G T VLDLR Nonsynonymous SNV K450N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 97854 chr1 111825304 111825304 C T rs749142311 CHIAP2 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 10.94 97855 chr1 95290064 95290064 T C rs145608976 SLC44A3 Nonsynonymous SNV Y15H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 97856 chrX 2876399 2876399 G A ARSL Nonsynonymous SNV S34F 0 0 0 3 0 0 0.008 0 0 0 0 1 8.778 97857 chr11 113684625 113684625 G A rs61751530 USP28 Synonymous SNV C242C 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 12.65 97858 chrX 31986499 31986499 G A rs149322279 DMD Nonsynonymous SNV R850W 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 97859 chr10 69366752 69366752 G A rs139105272 CTNNA3 Nonsynonymous SNV S52L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 33 97860 chrX 43571197 43571197 A C rs1800464 MAOA Synonymous SNV R129R 0.028 0.034 0.034 14 33 13 0.036 10 7 3 4 4 Benign 0.03 97861 chr11 112065474 112065474 A C rs149790013 BCO2 Synonymous SNV P139P 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.307 97862 chrX 46360125 46360125 C T rs187237351 ZNF674 Nonsynonymous SNV R300Q 0 0 0 5 0 0 0.013 0 0 0 0 2 Benign 19.1 97863 chr11 70333257 70333257 G A SHANK2 Synonymous SNV S459S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.34 97864 chr9 35738107 35738107 C T rs62637647 GBA2 Nonsynonymous SNV R747H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.5 97865 chrX 47919855 47919855 C T rs41297342 ZNF630 Nonsynonymous SNV S71N 0.02 0.029 0.034 17 23 11 0.044 10 3 4 4 6 4.741 97866 chr9 35810456 35810456 C T rs150869351 SPAG8 Nonsynonymous SNV G394R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 23.1 97867 chr1 116206600 116206600 C T rs142594314 VANGL1 Nonsynonymous SNV R173W 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 97868 chrX 47518375 47518375 A C rs750945890 UXT-AS1 0 0 0 5 0 0 0.013 0 0 0 0 2 6.948 97869 chr11 71724792 71724792 G A rs553488710 NUMA1 Nonsynonymous SNV R1253W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 97870 chr11 72421570 72421570 G A rs774228163 ARAP1 Nonsynonymous SNV R181W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 97871 chr9 37746714 37746714 C T rs138292555 FRMPD1 Nonsynonymous SNV T1562M 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 32 97872 chr11 118513072 118513072 C T PHLDB1 Nonsynonymous SNV S946F 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 17.63 97873 chr11 118516274 118516274 G A rs149914355 PHLDB1 Nonsynonymous SNV A1061T 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 23.4 97874 chr11 73076531 73076531 G A rs141322412 ARHGEF17 Nonsynonymous SNV V1883M 0 0 0.01 1 0 0 0.003 3 0 0 0 0 29 97875 chr11 118625446 118625446 T C rs191902541 DDX6 Nonsynonymous SNV E476G 0.001 0.005 0.007 0 1 2 0 2 0 0 1 0 24.4 97876 chr11 73103368 73103368 C T rs35329118 RELT Synonymous SNV A160A 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 13.56 97877 chr11 73610250 73610250 G T rs111323701 PAAF1 Synonymous SNV G115G 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 7.884 97878 chrX 67941917 67941917 A C rs143931856 STARD8 Synonymous SNV R750R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.008 97879 chr11 73803472 73803472 T C rs773972982 C2CD3 Nonsynonymous SNV N1169S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.146 97880 chr11 74009328 74009328 C T rs756005378 P4HA3 Nonsynonymous SNV G216R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 97881 chr11 119045372 119045372 C A rs199828804 NLRX1 Nonsynonymous SNV L354I 0.005 0.01 0 6 6 4 0.015 0 0 0 0 0 24.2 97882 chr9 5920905 5920905 A G rs765826321 KIAA2026 Synonymous SNV N1697N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.073 97883 chr11 119103189 119103189 C T CBL Nonsynonymous SNV A76V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 25.5 97884 chr11 75111483 75111483 C - rs17881627 SNORD15A 0 0 0.007 0 0 0 0 2 0 0 0 0 97885 chrX 70787453 70787453 A G rs899091443 OGT Nonsynonymous SNV N898S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.3 97886 chr11 48387925 48387925 C T OR4C5 Synonymous SNV T31T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.381 97887 chr11 118498804 118498804 G A rs200686731 PHLDB1 Nonsynonymous SNV R422H 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 25 97888 chr11 1023622 1023622 G A rs138887092 MUC6 Nonsynonymous SNV T1138M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14.82 97889 chr10 74673119 74673119 G T rs756638924 OIT3 Nonsynonymous SNV V282F 0.004 0 0 0 5 0 0 0 0 0 0 0 32 97890 chr11 4903552 4903552 G C OR51T1 Nonsynonymous SNV R141S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 97891 chr11 7673029 7673029 T C rs77873429 PPFIBP2 Nonsynonymous SNV M654T 0.013 0.016 0.017 5 15 6 0.013 5 0 0 0 0 10.17 97892 chr10 75277106 75277106 G C rs781347832 USP54 Nonsynonymous SNV F969L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.35 97893 chr11 7673049 7673049 C G rs77975665 PPFIBP2 Nonsynonymous SNV P661A 0.013 0.016 0.017 5 15 6 0.013 5 0 0 0 0 13.28 97894 chr11 119044524 119044524 C T rs375942096 NLRX1 Nonsynonymous SNV P189L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 24.8 97895 chr11 76908528 76908528 G A rs367679149 MYO7A Synonymous SNV G1442G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.3 97896 chr11 7690873 7690873 C T rs61733056 CYB5R2 Nonsynonymous SNV V81M 0.013 0.013 0.017 5 15 5 0.013 5 0 0 0 0 26.7 97897 chr1 116666821 116666821 G A rs143208519 MAB21L3 Synonymous SNV E108E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.19 97898 chr1 152058939 152058939 C T TCHHL1 Nonsynonymous SNV E407K 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 97899 chr11 123813888 123813888 A G rs139614081 OR6T1 Nonsynonymous SNV C220R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.81 97900 chr1 152324348 152324348 A T rs144875878 FLG2 Nonsynonymous SNV S1972T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.578 97901 chr1 152324371 152324371 G T rs140669858 FLG2 Nonsynonymous SNV P1964H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.004 97902 chr1 152324374 152324374 C A rs149671990 FLG2 Nonsynonymous SNV G1963V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.62 97903 chr1 152324389 152324389 T G rs745883798 FLG2 Nonsynonymous SNV Y1958S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.229 97904 chr11 5364342 5364342 C T rs547271833 OR51B5 Nonsynonymous SNV R138Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.5 97905 chr1 981187 981187 G T AGRN Nonsynonymous SNV G871W 0.003 0 0 0 3 0 0 0 0 0 0 0 28.9 97906 chr9 93375736 93375736 T C DIRAS2 Nonsynonymous SNV E125G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 97907 chr10 88476506 88476506 G A LDB3 Nonsynonymous SNV G489S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.8 97908 chr1 1558782 1558782 C T rs201820622 MIB2 Nonsynonymous SNV R42W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.8 97909 chr11 12379967 12379967 G A rs35531394 MICALCL Nonsynonymous SNV E677K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 97910 chr11 5510553 5510553 C T rs142747961 OR52D1 Nonsynonymous SNV A206V 0.005 0 0 0 6 0 0 0 0 0 0 0 25.4 97911 chr9 96418808 96418808 C T rs150964160 PHF2 Synonymous SNV L360L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 97912 chr11 112086992 112086992 C T BCO2 Nonsynonymous SNV A449V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 97913 chr1 153792132 153792132 T C rs150914014 GATAD2B Nonsynonymous SNV S139G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 23.2 97914 chr9 98011455 98011455 T G FANCC Nonsynonymous SNV Q40P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.733 97915 chr9 98734888 98734888 G A rs185740878 ERCC6L2 Nonsynonymous SNV R963K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.777 97916 chr11 92087959 92087959 G A rs80293525 FAT3 Nonsynonymous SNV R894Q 0.002 0 0.01 0 2 0 0 3 0 0 0 0 29.9 97917 chr1 2435421 2435421 C T PLCH2 Nonsynonymous SNV A1007V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 5.887 97918 chr10 1061836 1061836 G A rs139437936 GTPBP4 Synonymous SNV K584K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.5 97919 chr11 113295278 113295278 G A DRD2 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.849 97920 chr1 154316887 154316887 C T rs150649613 ATP8B2 Synonymous SNV I703I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 17.73 97921 chr10 112266827 112266827 C T rs145865805 DUSP5 Synonymous SNV T221T 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 13.89 97922 chr10 112337235 112337235 A G rs146433240 SMC3 Synonymous SNV S85S 0.008 0.003 0.007 4 9 1 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.405 97923 chr11 55541223 55541223 T A rs374592986 OR5D13 Nonsynonymous SNV C104S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.393 97924 chr1 154897619 154897619 G A rs370067596 PMVK Nonsynonymous SNV R175C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 97925 chrX 10535000 10535000 G C rs41303167 MID1 Synonymous SNV A196A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 1.453 97926 chrX 106198198 106198198 T G MORC4 Synonymous SNV R544R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.018 97927 chr10 96580392 96580392 C T rs757115928 CYP2C19 Nonsynonymous SNV T320I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.64 97928 chr11 94199711 94199711 G A rs148377174 MIR548L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.388 97929 chrX 106844327 106844327 T A rs780089779 FRMPD3 Nonsynonymous SNV W1053R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.329 97930 chr1 3512008 3512008 G T rs112138743 MEGF6 Synonymous SNV T90T 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Benign 2.568 97931 chr1 155030756 155030756 G A rs374419668 ADAM15 Nonsynonymous SNV G596S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 97932 chr11 116691610 116691610 C T rs770527623 APOA4 Synonymous SNV V388V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.028 97933 chr11 94731175 94731175 T C rs782575045 KDM4D Synonymous SNV Y213Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.013 97934 chr11 94731429 94731429 C T rs587708325 KDM4D Nonsynonymous SNV P298L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.118 97935 chrX 11272791 11272791 C T rs770879107 ARHGAP6 Nonsynonymous SNV V29I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 97936 chrX 114404908 114404908 G A LRCH2 Nonsynonymous SNV L318F 0.005 0 0 1 6 0 0.003 0 2 0 0 0 28.4 97937 chr1 152882953 152882982 AGCAGCAGGAGGGGCAGCTGGAGCTCCCAC - IVL P236_L245del 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 97938 chr10 99125924 99125924 C T rs139305944 RRP12 Nonsynonymous SNV R1053Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 35 97939 chr11 126215375 126215375 G A rs199813170 DCPS Nonsynonymous SNV R301Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24 97940 chrX 118223548 118223548 C T rs200017863 KIAA1210 Nonsynonymous SNV G549R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 97941 chr11 117984015 117984015 C A rs61663399 TMPRSS4 Synonymous SNV R219R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 97942 chr1 6641348 6641348 G A rs72634778 ZBTB48 Nonsynonymous SNV G227S 0.013 0.005 0.003 0 15 2 0 1 0 0 0 0 15.19 97943 chr11 1272059 1272059 G C rs199704716 MUC5B Nonsynonymous SNV R4650T 0.008 0.01 0.01 1 9 4 0.003 3 0 0 0 0 0.204 97944 chr1 7890046 7890046 T C rs149707228 PER3 Synonymous SNV T1013T 0.019 0.021 0 10 22 8 0.026 0 0 0 0 0 0.702 97945 chr1 156639865 156639865 A G rs925325847 NES Nonsynonymous SNV L1372P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 97946 chr11 129784764 129784764 C T rs117750366 PRDM10 Synonymous SNV T806T 0.02 0.026 0.017 1 24 10 0.003 5 0 0 1 0 19.43 97947 chr11 130131487 130131487 T C rs376243784 ZBTB44 Synonymous SNV L94L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.01 97948 chr1 9323895 9323895 C T rs147962990 H6PD Nonsynonymous SNV A459V 0.009 0.003 0 5 10 1 0.013 0 0 0 0 0 0.689 97949 chr12 102113935 102113935 C T rs140053199 CHPT1 Nonsynonymous SNV P228L 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 24.7 97950 chrX 129349830 129349830 G A ZNF280C Synonymous SNV P591P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.929 97951 chr1 9790707 9790712 TTCCTC - rs551074326 CLSTN1 E915_E916del 0.01 0 0 4 12 0 0.01 0 0 0 0 0 97952 chr11 130275961 130275961 C T rs746014175 ADAMTS8 Nonsynonymous SNV R721Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.3 97953 chr11 133791163 133791163 C T rs181497989 IGSF9B Synonymous SNV L819L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.333 97954 chr1 11129657 11129657 G A rs766643284 EXOSC10 Nonsynonymous SNV T791M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 24.6 97955 chr10 12136169 12136169 C T rs775165668 DHTKD1 Synonymous SNV F419F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 14.15 97956 chr1 157738203 157738203 C T rs138708903 FCRL2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 97957 chr11 122944421 122944421 G A rs201115327 CLMP Nonsynonymous SNV R295W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 97958 chr12 10772915 10772915 C T rs189204525 STYK1 Nonsynonymous SNV R366H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 97959 chrX 140993612 140993716 TGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG - MAGEC1 V162_S196del 0.001 0 0 0 1 0 0 0 0 0 0 0 97960 chr1 12343739 12343739 T C VPS13D Synonymous SNV H1860H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 97961 chrX 140994373 140994373 A T MAGEC1 Stop gain R395X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 97962 chrX 140994375 140994375 A T rs200074556 MAGEC1 Nonsynonymous SNV R395S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 97963 chrX 140994381 140994381 C A rs76145360 MAGEC1 Nonsynonymous SNV H397Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 97964 chr12 109972426 109972426 C T rs192805046 UBE3B Nonsynonymous SNV R1016W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 97965 chr1 159751137 159751137 G T rs1023033264 DUSP23 Stop gain E83X 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 35 97966 chr12 110206771 110206771 C T rs542271980 FAM222A Nonsynonymous SNV A346V 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 97967 chr11 5632081 5632081 G C rs781452684 TRIM6 Nonsynonymous SNV V151L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.46 97968 chrX 151283990 151283990 T C rs200126235 MAGEA10-MAGEA5, MAGEA5 Nonsynonymous SNV Q8R 0.004 0.005 0 0 5 2 0 0 1 1 0 0 1.364 97969 chr1 160133954 160133954 C T rs146761116 ATP1A4 Nonsynonymous SNV R263W 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 24.4 97970 chrX 152037379 152037379 C T rs146686014 NSDHL Nonsynonymous SNV R281C 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Likely benign 31 97971 chrX 152110276 152110276 C T rs80343056 ZNF185 Synonymous SNV G8G 0.002 0 0.007 0 2 0 0 2 0 0 1 0 8.415 97972 chrX 152110301 152110301 A G rs12012933 ZNF185 Nonsynonymous SNV M17V 0.002 0 0.007 0 2 0 0 2 0 0 1 0 5.055 97973 chr1 16736272 16736272 G A rs41269195 SPATA21 Synonymous SNV S114S 0.016 0.018 0.01 2 19 7 0.005 3 0 0 0 0 4.737 97974 chr1 17281278 17281278 G A rs41272739 CROCC Nonsynonymous SNV R1124Q 0.014 0.013 0.003 3 16 5 0.008 1 0 0 0 0 23.8 97975 chrX 153222085 153222085 C T rs200053475 HCFC1 Nonsynonymous SNV G876S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 97976 chr12 113812696 113812696 T C PLBD2 Nonsynonymous SNV I248T 0 0 0.003 0 0 0 0 1 0 0 0 0 25 97977 chrX 153633187 153633187 G A rs144754107 DNASE1L1 Nonsynonymous SNV T98M 0.004 0.003 0 0 5 1 0 0 1 0 0 0 18.89 97978 chr12 116586415 116586418 TATA - rs113328518 MIR620 0 0 0.082 0 0 0 0 24 0 0 7 0 97979 chr11 126432747 126432747 A T rs201204758 KIRREL3 Nonsynonymous SNV F39Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22.1 97980 chr11 5699550 5699550 T A rs766020139 TRIM5 Nonsynonymous SNV I210F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.64 97981 chrX 21488889 21488889 T C rs34161348 CNKSR2 Synonymous SNV C175C 0.003 0 0 1 3 0 0.003 0 1 0 0 0 Benign 4.646 97982 chr1 19215906 19215906 C T rs141327098 ALDH4A1 Nonsynonymous SNV V7M 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 34 97983 chr11 129739546 129739546 T C rs143202036 NFRKB Nonsynonymous SNV H1150R 0.006 0.01 0 2 7 4 0.005 0 0 0 0 1 22.3 97984 chr1 20640926 20640926 T C rs146970556 VWA5B1 Nonsynonymous SNV I135T 0.012 0.008 0.014 2 14 3 0.005 4 1 0 0 0 25.5 97985 chr11 130298120 130298120 - GCA ADAMTS8 L21_P22insL 0.012 0.008 0 4 14 3 0.01 0 0 0 0 0 97986 chr10 134218163 134218163 G A rs772188416 PWWP2B Synonymous SNV P53P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 7.72 97987 chr11 103116000 103116000 T C rs192003811 DYNC2H1 Synonymous SNV A3313A 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.446 97988 chr11 1031202 1031202 C T rs139011641 MUC6 Nonsynonymous SNV G181R 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 23.9 97989 chrX 31526352 31526352 C T rs368616208 DMD Star tloss M1? 0.003 0 0.003 2 3 0 0.005 1 0 0 0 1 16.59 97990 chr12 122242666 122242666 A C rs773794483 SETD1B Nonsynonymous SNV H8P 0.005 0.016 0.01 1 6 6 0.003 3 0 0 0 0 20.4 97991 chr11 134047159 134047159 T C NCAPD3 Synonymous SNV P854P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.679 97992 chr10 134682789 134682789 C T rs181005365 CFAP46 Synonymous SNV L1533L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.962 97993 chr10 134942698 134942698 C A rs150943550 ADGRA1 Nonsynonymous SNV P359T 0.028 0.016 0.031 16 33 6 0.041 9 0 1 0 0 21.5 97994 chr11 104879687 104879687 T - rs372526393 CASP5 R23Gfs*21 0.002 0 0 2 2 0 0.005 0 0 0 0 0 97995 chr12 122439428 122439428 G T rs199850417 WDR66 Nonsynonymous SNV M1087I 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 17.65 97996 chrX 40551980 40551980 T C rs145739870 MED14 Nonsynonymous SNV R609G 0.014 0.008 0.003 1 17 3 0.003 1 4 0 0 0 12.55 97997 chrX 40594871 40594871 C A rs759187367 MED14OS Synonymous SNV G57G 0.014 0.005 0 1 16 2 0.003 0 4 0 0 0 14.85 97998 chrX 40594909 40594909 C G MED14OS Nonsynonymous SNV P70R 0.014 0.005 0 1 16 2 0.003 0 4 0 0 0 6.206 97999 chrX 47917919 47917919 G A rs782789319 ZNF630 Stop gain Q638X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 98000 chr11 28045367 28045367 G A rs35440657 KIF18A Synonymous SNV D845D 0.02 0.023 0.003 3 23 9 0.008 1 0 0 0 0 Benign 4.94 98001 chrX 48419024 48419024 T C rs146047424 TBC1D25 Synonymous SNV D592D 0.022 0.008 0.007 5 26 3 0.013 2 7 1 0 2 0.009 98002 chr1 175097299 175097299 A G rs141386115 TNN Synonymous SNV T1059T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.986 98003 chrX 48976070 48976070 C T rs782767447 GPKOW Nonsynonymous SNV R185H 0.009 0 0 2 11 0 0.005 0 3 0 0 1 24.4 98004 chr1 168665792 168665792 C T rs6698023 DPT Nonsynonymous SNV V201I 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Benign 24.6 98005 chrX 49455976 49455976 C T rs145017650 PAGE1 Synonymous SNV G56G 0.008 0.003 0 2 9 1 0.005 0 2 0 0 1 Benign 1.688 98006 chr11 3050233 3050233 C T rs117234242 CARS Nonsynonymous SNV G259S 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 Benign 33 98007 chr12 125299559 125299559 G A rs150222965 SCARB1 Nonsynonymous SNV S129L 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 8.689 98008 chrX 53263460 53263460 C T rs191886831 IQSEC2 Nonsynonymous SNV A1470T 0.006 0.005 0 7 7 2 0.018 0 1 1 0 3 Benign 14.64 98009 chr11 58979091 58979091 G C rs189108305 MPEG1 Stop gain Y416X 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 35 98010 chrX 55513251 55513251 G C rs200045736 USP51 Nonsynonymous SNV L708V 0.004 0.003 0 2 5 1 0.005 0 1 0 0 1 11.27 98011 chr12 12630191 12630191 T C DUSP16 Nonsynonymous SNV Q525R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 98012 chr1 170961360 170961360 G A rs189860161 MROH9 Nonsynonymous SNV V362M 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 25.2 98013 chrX 65393489 65393489 G A rs771425432 HEPH Synonymous SNV P160P 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 9.123 98014 chr12 128899853 128899853 C T rs200339631 TMEM132C Nonsynonymous SNV P221L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.369 98015 chrX 66765158 66765158 - GCAGCA rs3032358 AR Q80_E81insQQ 0.014 0.013 0.017 6 17 5 0.015 5 8 2 2 3 98016 chr11 35282450 35282450 A G SLC1A2 Synonymous SNV R572R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.298 98017 chr11 205650 205650 A G rs143008952 BET1L Synonymous SNV D43D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 4.958 98018 chr12 131692280 131692280 C T rs5011512 LINC01257 0 0 0.044 0 0 0 0 13 0 0 0 0 1.725 98019 chr11 116746992 116746992 G A rs930897070 SIK3 Synonymous SNV L358L 0.003 0 0 0 4 0 0 0 0 0 0 0 7.542 98020 chr11 21392463 21392463 A G rs8176792 NELL1 Synonymous SNV P481P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 98021 chrX 75003958 75003958 G A MAGEE2 Nonsynonymous SNV T310I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 98022 chrX 75003982 75003982 C A MAGEE2 Nonsynonymous SNV G302V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 98023 chr1 183201363 183201363 G C rs141812464 LAMC2 Synonymous SNV L633L 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 8.599 98024 chr12 133146657 133146657 C T rs561202509 FBRSL1 Synonymous SNV P279P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.17 98025 chr11 418735 418735 G A rs12792208 ANO9 Synonymous SNV F561F 0.01 0.008 0.014 5 12 3 0.013 4 1 0 0 0 14.95 98026 chr11 428749 428749 G A rs114920213 ANO9 Synonymous SNV T187T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.718 98027 chrX 9863426 9863426 G T rs61738461 SHROOM2 Nonsynonymous SNV G493V 0.014 0.008 0.003 2 17 3 0.005 1 2 0 0 0 0.159 98028 chr11 45671427 45671427 G A rs148878468 CHST1 Synonymous SNV T349T 0.013 0.008 0.003 2 15 3 0.005 1 0 0 0 0 9.463 98029 chr11 45926307 45926307 G A rs144836273 MAPK8IP1 Synonymous SNV P605P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.38 98030 chr1 193038360 193038360 A G rs182431335 RO60 Nonsynonymous SNV E59G 0.014 0.008 0.017 4 16 3 0.01 5 0 0 0 0 16.23 98031 chr10 100157191 100157191 G A rs568245398 PYROXD2 Nonsynonymous SNV A179V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.73 98032 chr11 28058202 28058202 G A KIF18A Nonsynonymous SNV S653L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 98033 chr10 3187667 3187667 C T rs112975086 PITRM1-AS1 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 5.185 98034 chr11 46792501 46792501 G A rs144101441 CKAP5 Nonsynonymous SNV T1008I 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 20.7 98035 chr12 15777273 15777273 C T rs78763451 EPS8 Nonsynonymous SNV A705T 0.002 0.005 0.014 1 2 2 0.003 4 0 0 0 0 Benign/Likely benign 23.6 98036 chr11 4703813 4703813 G A OR51E2 Synonymous SNV I43I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.959 98037 chr10 101914653 101914653 T C rs759786446 ERLIN1 Synonymous SNV E103E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.329 98038 chr11 47256924 47256924 G A rs138255134 DDB2 Synonymous SNV P328P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Uncertain significance 14.27 98039 chr11 121348951 121348951 G A rs750601899 SORL1 Nonsynonymous SNV R176Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.2 98040 chr11 47594767 47594767 G A rs146486534 KBTBD4 Synonymous SNV H473H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.367 98041 chr10 45429175 45429175 G A rs377279825 TMEM72 Synonymous SNV S100S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.94 98042 chr11 62298577 62298577 T C rs761008623 AHNAK Synonymous SNV R1104R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 98043 chr11 47603733 47603733 G C rs148331180 NDUFS3 Nonsynonymous SNV V159L 0.018 0.01 0.01 7 21 4 0.018 3 1 0 0 0 Conflicting interpretations of pathogenicity 13.14 98044 chr11 47644270 47644270 A C rs796949086 MTCH2 Nonsynonymous SNV C261G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.76 98045 chr10 104445674 104445674 C T ARL3 Nonsynonymous SNV A134T 0 0.003 0 0 0 1 0 0 0 0 0 0 24 98046 chr11 47644271 47644271 C T rs796096347 MTCH2 Stop gain W260X 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 44 98047 chr11 47644274 47644274 A G rs796379070 MTCH2 Synonymous SNV C259C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.738 98048 chr11 47644277 47644277 G A rs796963858 MTCH2 Synonymous SNV D258D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.607 98049 chr11 47752931 47752931 G T rs368336118 FNBP4 Nonsynonymous SNV S670Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.2 98050 chr12 22826516 22826516 A T rs140394146 ETNK1 Nonsynonymous SNV K289N 0 0 0.01 1 0 0 0.003 3 0 0 0 0 16.47 98051 chr12 2788668 2788668 C G rs201492706 CACNA1C Nonsynonymous SNV A1725G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 98052 chr1 202097309 202097309 C T rs76841249 GPR37L1 Synonymous SNV L357L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 8.26 98053 chr12 28457626 28457626 A G rs772692250 CCDC91 Star tloss M1? 0 0 0.007 0 0 0 0 2 0 0 0 0 21.3 98054 chr10 49431225 49431225 C A rs148906229 FRMPD2 Nonsynonymous SNV M395I 0 0 0.007 1 0 0 0.003 2 0 0 1 0 10.04 98055 chr1 203054655 203054655 G A rs376446026 MYOG Synonymous SNV D145D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.738 98056 chr12 305370 305370 G A rs755704366 SLC6A12 Nonsynonymous SNV R416W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 98057 chr1 201196197 201196197 C T rs371400485 IGFN1 Synonymous SNV P3658P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 98058 chr12 32134690 32134690 G A rs147581411 RESF1 Synonymous SNV Q267Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.023 98059 chr11 1249952 1249952 C T rs145446448 MUC5B Synonymous SNV H311H 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign 11.22 98060 chr12 33031395 33031395 G A rs150821281 PKP2 Nonsynonymous SNV S140F 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 98061 chr1 203276489 203276489 C T rs765070160 BTG2 Nonsynonymous SNV L134F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 7.034 98062 chr11 64813692 64813692 C T NAALADL1 Synonymous SNV G608G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.91 98063 chr12 44166069 44166069 A G rs993314139 IRAK4 Nonsynonymous SNV R8G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.217 98064 chr12 46120956 46120956 G A rs7966316 LINC00938 0 0 0.017 0 0 0 0 5 0 0 0 0 8.191 98065 chr11 65349392 65349392 G A rs141669012 EHBP1L1 Nonsynonymous SNV E417K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.68 98066 chr10 11894092 11894092 C T rs146045122 PROSER2 Nonsynonymous SNV R6W 0.003 0.013 0.01 1 3 5 0.003 3 0 0 0 0 25.9 98067 chr10 118960774 118960774 T C rs140325655 KCNK18 Nonsynonymous SNV C110R 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 26.8 98068 chr10 119134615 119134615 C T rs115239541 PDZD8 Nonsynonymous SNV G42S 0.008 0.01 0.017 2 9 4 0.005 5 0 0 0 0 6.538 98069 chr1 205893581 205893581 G C rs141683821 SLC26A9 Nonsynonymous SNV L476V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 98070 chr12 49153109 49153109 A T rs140436838 TEX49 Nonsynonymous SNV K66M 0 0 0.01 0 0 0 0 3 0 0 0 0 26.2 98071 chr12 49420659 49420659 A C rs373414243 KMT2D Synonymous SNV R5030R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.083 98072 chr1 214803895 214803895 C T rs773796644 CENPF Nonsynonymous SNV R405C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 98073 chr11 65653099 65653099 C T rs752473991 FIBP Nonsynonymous SNV R183H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 98074 chr11 5345304 5345304 G C OR51B2 Nonsynonymous SNV T75R 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.8 98075 chr12 50136008 50136008 G A TMBIM6 Nonsynonymous SNV C30Y 0 0 0.007 0 0 0 0 2 0 0 0 0 1.335 98076 chr10 1246060 1246060 C T rs138375235 ADARB2 Synonymous SNV A570A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.609 98077 chr10 125622149 125622149 C T rs144190123 CPXM2 Nonsynonymous SNV R165Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 33 98078 chr1 220960457 220960457 A C rs79575000 MTARC1 Synonymous SNV T57T 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 0.002 98079 chr10 73406450 73406450 C A rs41281304 CDH23 Nonsynonymous SNV P509T 0.005 0.003 0.007 2 6 1 0.005 2 1 0 0 0 Benign 12.9 98080 chr10 129249628 129249628 G A rs149056037 DOCK1 Synonymous SNV P1866P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.27 98081 chr12 52408901 52408901 A G rs371850904 GRASP Nonsynonymous SNV K226R 0.005 0 0.007 9 6 0 0.023 2 0 0 0 0 13.16 98082 chr1 57254697 57254697 G A rs41305876 FYB2 Nonsynonymous SNV L290F 0.008 0.003 0.01 10 9 1 0.026 3 0 0 0 0 25.6 98083 chr10 75264778 75264778 C A PPP3CB-AS1 0.002 0 0 3 2 0 0.008 0 0 0 0 0 16.02 98084 chr10 75290074 75290074 G A rs200397031 USP54 Nonsynonymous SNV S495F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.8 98085 chr11 67833279 67833279 G A rs186951601 CHKA Nonsynonymous SNV R349W 0.003 0 0 0 4 0 0 0 0 0 0 0 29.5 98086 chr12 52788814 52788814 C T rs61730587 KRT82 Nonsynonymous SNV R496Q 0.007 0.005 0.014 4 8 2 0.01 4 0 0 0 0 11.8 98087 chr1 225533861 225533861 A G rs74147200 DNAH14 Nonsynonymous SNV M3626V 0.016 0.021 0.01 6 19 8 0.015 3 0 0 0 0 19.74 98088 chr10 76910745 76910745 A T rs148140903 SAMD8 Synonymous SNV I153I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.195 98089 chr10 134036445 134036445 C T rs779183067 STK32C Nonsynonymous SNV V360M 0 0.005 0 0 0 2 0 0 0 0 0 0 13.54 98090 chr10 77542754 77542754 C - rs146123023 LRMDA S8Afs*14 0.003 0 0.014 5 3 0 0.013 4 0 0 0 0 98091 chr1 225599113 225599113 G A rs200180113 LBR Nonsynonymous SNV R372C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 98092 chr10 79769647 79769647 C A rs34588967 POLR3A Nonsynonymous SNV R582L 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 Benign 25.9 98093 chr10 79795112 79795112 C T rs746098498 RPS24 Synonymous SNV N2N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 14.84 98094 chr10 81317106 81317106 A G rs17880902 SFTPA2 Synonymous SNV D212D 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 0.004 98095 chr1 226552752 226552752 G A PARP1 Nonsynonymous SNV A870V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 98096 chr1 226834906 226834906 G A rs142941907 ITPKB Synonymous SNV F736F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.61 98097 chr1 226924133 226924133 C T rs199795545 ITPKB Nonsynonymous SNV V343M 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 10.99 98098 chr10 134694426 134694426 G A rs200941339 CFAP46 Synonymous SNV V1246V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 7.623 98099 chr11 2334937 2334937 A C rs895669209 TSPAN32 Nonsynonymous SNV K136N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.299 98100 chr1 228404718 228404718 C T rs370849282 OBSCN Synonymous SNV L794L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.87 98101 chr11 5461841 5461841 G A rs61736831 OR51I1 Nonsynonymous SNV R302C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 98102 chr11 74204642 74204642 A G rs543581000 LIPT2 Nonsynonymous SNV I36T 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 5.703 98103 chr12 53876100 53876100 C T rs756194201 MAP3K12 Synonymous SNV E764E 0 0 0.007 0 0 0 0 2 0 0 0 0 14.72 98104 chr11 55110746 55110746 A G rs78377864 OR4A16 Nonsynonymous SNV T24A 0.054 0.039 0 11 63 15 0.028 0 0 0 0 0 0.018 98105 chr11 55110770 55110770 A G rs138778321 OR4A16 Nonsynonymous SNV I32V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 98106 chr12 55248931 55248931 G A rs148497245 MUCL1 Synonymous SNV T30T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.778 98107 chr12 55863724 55863724 G A rs144439557 OR6C70 Synonymous SNV L67L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.366 98108 chr1 229772302 229772302 C T rs115626805 URB2 Nonsynonymous SNV L648F 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 16.61 98109 chr12 55968676 55968676 C G rs56012703 OR2AP1 Nonsynonymous SNV L160V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 21.9 98110 chr12 56563563 56563563 T C rs199867483 SMARCC2 Nonsynonymous SNV I818V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 3.468 98111 chr11 55111509 55111509 T C rs75872349 OR4A16 Nonsynonymous SNV L278P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.059 98112 chr11 55111570 55111570 T C rs77614633 OR4A16 Synonymous SNV N298N 0.019 0.013 0 6 22 5 0.015 0 0 0 0 0 0.006 98113 chr11 55111580 55111580 G A rs76200064 OR4A16 Nonsynonymous SNV E302K 0.02 0.013 0 7 23 5 0.018 0 0 0 0 0 0.013 98114 chr1 232600685 232600685 T A SIPA1L2 Nonsynonymous SNV L907F 0.001 0 0 0 1 0 0 0 0 0 0 0 22 98115 chr11 55111585 55111585 G C rs76812014 OR4A16 Nonsynonymous SNV K303N 0.02 0.01 0 6 23 4 0.015 0 0 0 0 0 0.461 98116 chr1 232650454 232650454 A G rs202105245 SIPA1L2 Nonsynonymous SNV M211T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22 98117 chr11 55111586 55111586 T G rs78512860 OR4A16 Nonsynonymous SNV L304V 0.019 0.013 0 6 22 5 0.015 0 0 0 0 0 0.001 98118 chr11 55111602 55111602 A T rs78987961 OR4A16 Nonsynonymous SNV K309I 0.019 0.013 0 4 22 5 0.01 0 0 0 0 0 0.01 98119 chr11 55111607 55111607 G T rs77602694 OR4A16 Nonsynonymous SNV V311L 0.019 0.016 0 2 22 6 0.005 0 0 0 0 0 0.001 98120 chr11 55111627 55111627 A G rs76269438 OR4A16 Nonsynonymous SNV I317M 0.014 0.013 0 2 16 5 0.005 0 0 0 0 0 0.016 98121 chr11 55111631 55111631 A G rs76977446 OR4A16 Nonsynonymous SNV I319V 0.012 0.013 0 3 14 5 0.008 0 0 0 0 0 0.001 98122 chr11 55111632 55111632 T C rs78439004 OR4A16 Nonsynonymous SNV I319T 0.012 0.013 0 3 14 5 0.008 0 0 0 0 0 0.016 98123 chr11 55111634 55111634 C A rs78935813 OR4A16 Nonsynonymous SNV P320T 0.012 0.01 0 3 14 4 0.008 0 0 0 0 0 0.001 98124 chr10 29137232 29137232 C T rs76455499 C10orf126 0.003 0.008 0.003 5 3 3 0.013 1 0 0 0 0 6.109 98125 chr1 235922353 235922353 T C LYST Nonsynonymous SNV D2267G 0.001 0 0 0 1 0 0 0 0 0 0 0 29 98126 chr1 235938329 235938329 A C rs115330112 LYST Nonsynonymous SNV S1840A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.85 98127 chr12 57922485 57922485 C T rs146463163 MBD6 Nonsynonymous SNV R953C 0 0 0.007 0 0 0 0 2 0 0 0 0 34 98128 chr11 421182 421182 C T rs772273791 ANO9 Nonsynonymous SNV G307R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 98129 chr12 58016690 58016690 G A rs111988600 SLC26A10 Synonymous SNV K304K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 12.72 98130 chr1 234743492 234743492 C T rs14739 IRF2BP2 Synonymous SNV E369E 0.007 0 0.007 1 8 0 0.003 2 1 0 0 0 4.776 98131 chr1 234743528 234743528 G A rs1059429 IRF2BP2 Synonymous SNV N357N 0.007 0 0.007 1 8 0 0.003 2 1 0 0 0 2.045 98132 chr10 32197160 32197160 T C rs149005625 ARHGAP12 Synonymous SNV R208R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 98133 chr1 234745166 234745166 G A rs76362154 IRF2BP2 Synonymous SNV P25P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.974 98134 chr12 64784277 64784277 C T rs533454968 C12orf56 Synonymous SNV R23R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.28 98135 chr12 65269030 65269030 C T rs78100345 TBC1D30 Nonsynonymous SNV P559L 0.012 0.013 0.007 0 14 5 0 2 0 0 0 0 8.695 98136 chr11 57076462 57076462 G A rs368762119 TNKS1BP1 Synonymous SNV V1241V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.491 98137 chr1 242121301 242121301 C A BECN2 Nonsynonymous SNV A78D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.811 98138 chr10 46159086 46159086 G A rs147435712 ZFAND4 Nonsynonymous SNV L30F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 98139 chr11 57367765 57367765 C T rs201627388 SERPING1 Synonymous SNV H155H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign/Likely benign 12.17 98140 chr12 674466 674466 T A NINJ2 Nonsynonymous SNV I115F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 98141 chr11 48238434 48238434 T C rs960171498 OR4B1 Nonsynonymous SNV C25R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 98142 chr12 6883899 6883899 C T rs147749635 LAG3 Nonsynonymous SNV P217L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 98143 chr12 69021044 69021048 ATACA - rs140347699 SNORA70G 0 0 0.017 0 0 0 0 5 0 0 0 0 98144 chr12 69080593 69080593 G C rs149838156 LOC100507250 0 0 0.014 0 0 0 0 4 0 0 0 0 1.691 98145 chr11 55861523 55861523 T C rs151296695 OR8I2 Nonsynonymous SNV V247A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.8 98146 chr12 6993658 6993658 C G rs12817264 RPL13P5 0 0 0.071 0 0 0 0 21 0 0 0 0 5.074 98147 chr10 48426755 48426755 G A rs782067440 GDF10 Nonsynonymous SNV R418C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.4 98148 chr11 9446475 9446475 T C IPO7 Nonsynonymous SNV F386L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.4 98149 chr11 94917672 94917672 T C rs17621683 SESN3 Synonymous SNV Q144Q 0.01 0.008 0.01 4 12 3 0.01 3 0 0 0 0 2.804 98150 chr12 72028543 72028543 C T rs187512524 ZFC3H1 Synonymous SNV P767P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 17.67 98151 chr11 102991668 102991668 C A rs142881106 DYNC2H1 Nonsynonymous SNV F421L 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.55 98152 chr12 1036340 1036340 C T rs11571443 RAD52 Synonymous SNV A69A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 17.2 98153 chr12 104408832 104408832 T C rs117801489 GLT8D2 Nonsynonymous SNV Y24C 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 24.1 98154 chr2 1263164 1263164 G A rs371971068 SNTG2 Nonsynonymous SNV R343Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.77 98155 chr12 88508258 88508258 T C rs79705698 CEP290 Nonsynonymous SNV D664G 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Benign/Likely benign 27.5 98156 chr11 4929362 4929362 A G rs144609747 OR51A7 Nonsynonymous SNV I255V 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 11.31 98157 chr10 61835057 61835057 G A rs117475706 ANK3 Nonsynonymous SNV T1861M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 98158 chr1 114162448 114162448 A G MAGI3 Synonymous SNV K389K 0.003 0 0 0 3 0 0 0 0 0 0 0 6.014 98159 chr11 608997 608997 C T rs200687895 PHRF1 Nonsynonymous SNV R1181C 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 27.2 98160 chr11 609351 609351 C G rs199922330 PHRF1 Nonsynonymous SNV P1299A 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 22.9 98161 chr11 56237564 56237564 A T rs61902880 OR5M3 Nonsynonymous SNV V137D 0.006 0.013 0.01 1 7 5 0.003 3 1 1 0 0 11.71 98162 chr1 117644058 117644058 A G rs41276572 TTF2 Nonsynonymous SNV K1134R 0.03 0.018 0.014 4 35 7 0.01 4 1 0 0 0 23.5 98163 chr12 109834275 109834275 G A rs375164407 MYO1H Nonsynonymous SNV G110E 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 98164 chr12 111158920 111158920 C T rs773812357 PPP1CC Synonymous SNV T311T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.34 98165 chr11 619322 619322 C T rs61732115 CDHR5 Synonymous SNV Q454Q 0.018 0.005 0.024 7 21 2 0.018 7 0 0 0 0 10.76 98166 chr11 551197 551197 G A rs373134692 LRRC56 Nonsynonymous SNV E231K 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 98167 chr13 103343197 103343197 G A rs372296617 METTL21C Nonsynonymous SNV S83F 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 26.8 98168 chr2 20840851 20840851 C T rs148915944 HS1BP3 Synonymous SNV K96K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 18.18 98169 chr13 103385064 103385064 T C rs200932361 CCDC168 Nonsynonymous SNV K5995E 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 0.004 98170 chr13 103397855 103397855 C T rs756449829 CCDC168 Nonsynonymous SNV R1731H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 2.345 98171 chr1 150922939 150922939 C T rs143224912 SETDB1 Nonsynonymous SNV P529L 0.009 0.016 0.007 0 10 6 0 2 0 0 0 0 Benign 14.72 98172 chr11 640090 640090 G C rs3889692 DRD4 Nonsynonymous SNV A281P 0.028 0.023 0.01 16 33 9 0.041 3 5 1 1 2 0.976 98173 chr10 75532435 75532435 C G rs200470442 FUT11 Nonsynonymous SNV S115W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 98174 chr1 151260510 151260510 T C rs140159110 ZNF687 Synonymous SNV H581H 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 0.025 98175 chr2 25141251 25141251 C T rs201676524 ADCY3 Synonymous SNV T202T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.004 98176 chr10 7621974 7621974 C T rs749838158 ITIH5 Nonsynonymous SNV V174M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 98177 chr1 151881882 151881882 G A THEM4 Nonsynonymous SNV P18L 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 0.39 98178 chr10 79737300 79737300 G A rs756281581 POLR3A Nonsynonymous SNV P1370L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 98179 chr12 120954542 120954542 T C rs957487354 COQ5 Synonymous SNV R134R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.024 98180 chr13 112722762 112722762 G A rs147042049 SOX1 Nonsynonymous SNV G264S 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 8.044 98181 chr11 58892123 58892123 C A FAM111B Nonsynonymous SNV L155I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 98182 chr13 114201643 114201643 G A rs758996753 TMCO3 Nonsynonymous SNV V408I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.7 98183 chr11 122830116 122830116 A C rs982758798 JHY Nonsynonymous SNV Q740P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26 98184 chr2 27587724 27587724 G A rs1058065 EIF2B4 Synonymous SNV N432N 0.003 0.013 0.014 0 3 5 0 4 0 0 0 0 Benign 10.78 98185 chr11 59211325 59211325 C T rs72923336 OR5A1 Synonymous SNV V228V 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 6.558 98186 chr11 59224738 59224738 T C rs17153770 OR4D6 Nonsynonymous SNV F102S 0.012 0.003 0.007 5 14 1 0.013 2 0 0 0 0 25.6 98187 chr11 59225130 59225130 C - rs77048571 OR4D6 R233Gfs*15 0.01 0.003 0.007 3 12 1 0.008 2 0 0 0 0 98188 chr2 27000968 27000968 C T rs146289512 SLC35F6 Synonymous SNV A235A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.9 98189 chr11 65143892 65143892 G A rs34400381 SLC25A45 Nonsynonymous SNV R261C 0.026 0.023 0.044 22 30 9 0.056 13 1 0 2 1 26 98190 chr13 20637004 20637004 A C rs200140595 ZMYM2 Nonsynonymous SNV D977A 0 0 0.007 0 0 0 0 2 0 0 0 0 17.86 98191 chr12 122862296 122862296 G A rs141383610 CLIP1 Synonymous SNV N99N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 3.367 98192 chr2 27730619 27730619 T C rs140213973 GCKR Synonymous SNV T405T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.619 98193 chr12 124402341 124402341 C T rs202063832 DNAH10 Nonsynonymous SNV T3620I 0.012 0.005 0.014 4 14 2 0.01 4 0 0 0 0 Likely benign 27.2 98194 chr12 124816867 124816867 T C NCOR2 Nonsynonymous SNV Y2291C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 98195 chr1 155317682 155317682 C T rs41264231 ASH1L Nonsynonymous SNV R2528H 0.006 0.013 0 0 7 5 0 0 0 0 0 0 35 98196 chr1 155449244 155449244 G A rs749469850 ASH1L Synonymous SNV H1139H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.126 98197 chr13 28562694 28562694 C T rs749372365 URAD Synonymous SNV L27L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 98198 chr13 28712856 28712856 - GGCGGC PAN3 A24_V25insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 98199 chr11 66033394 66033394 C T rs199498417 KLC2 Nonsynonymous SNV R428C 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 25.1 98200 chr11 61106604 61106604 G A rs762167938 TKFC Nonsynonymous SNV G87D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 98201 chr11 66083515 66083515 G A rs201388542 CD248 Synonymous SNV N328N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 6.801 98202 chr13 32906872 32906872 T - rs80359272 BRCA2 C419Wfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 98203 chr2 40342687 40342687 C G rs765449185 SLC8A1 Synonymous SNV V840V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.267 98204 chr13 32953971 32953971 C T rs28897755 BRCA2 Nonsynonymous SNV T3013I 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 98205 chr11 67235051 67235051 G A rs143199541 TMEM134 Stop gain R84X 0.014 0.016 0 1 16 6 0.003 0 1 0 0 0 34 98206 chr12 132334460 132334460 A G rs139162290 MMP17 Nonsynonymous SNV N440D 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign 17.74 98207 chr13 36939688 36939688 C T rs3736919 SPART-AS1 0 0 0.167 0 0 0 0 49 0 0 19 0 6.915 98208 chr12 132546675 132546675 C T rs143376217 EP400 Synonymous SNV P2635P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 11.85 98209 chr1 156786487 156786487 A T rs142614264 SH2D2A Nonsynonymous SNV L5Q 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 25 98210 chr11 66512290 66512290 - GGCGGCGGCGGCGGCGGCGGC C11orf80 A34_G35insAAAAAAA 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 98211 chr13 41515497 41515497 G A rs142074159 ELF1 Synonymous SNV Y248Y 0 0 0.007 0 0 0 0 2 0 0 0 0 2.612 98212 chr2 44190789 44190789 T C rs115507225 LRPPRC Nonsynonymous SNV T476A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.1 98213 chr13 45915512 45915512 C T rs113210477 TPT1-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 9.613 98214 chr11 68816564 68816564 A G rs78810307 TPCN2 Synonymous SNV Q33Q 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 1.256 98215 chr13 49084867 49084867 T C rs781271841 RCBTB2 Nonsynonymous SNV E251G 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 98216 chr1 158450451 158450451 G A rs62642485 OR10R2 Nonsynonymous SNV A262T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25.2 98217 chr11 709567 709567 G A rs12283031 EPS8L2 Nonsynonymous SNV R20Q 0.018 0.008 0.024 10 21 3 0.026 7 0 0 0 0 Benign 23 98218 chr2 55844281 55844281 G A rs373812967 PPP4R3B Synonymous SNV D47D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.29 98219 chr11 63884474 63884474 C T rs3751121 FLRT1 Synonymous SNV S245S 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 2.428 98220 chr11 64009967 64009967 G A FKBP2 Synonymous SNV K36K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 98221 chr11 64034911 64034911 G A rs28395877 PLCB3 Synonymous SNV P1129P 0.009 0.013 0.003 3 11 5 0.008 1 0 0 0 0 11.46 98222 chr11 72423290 72423290 C T rs750657269 ARAP1 Nonsynonymous SNV V80I 0.005 0.008 0 0 6 3 0 0 0 0 0 0 6.865 98223 chr2 64685451 64685451 A G rs141883484 LGALSL Synonymous SNV R136R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 2.144 98224 chr11 64109208 64109208 G C rs61735121 CCDC88B Synonymous SNV G223G 0.003 0 0 0 3 0 0 0 0 0 0 0 7.183 98225 chr11 64326696 64326696 C A rs72559737 SLC22A11 Synonymous SNV G161G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.283 98226 chr11 64359274 64359274 C T rs3825017 SLC22A12 Synonymous SNV N82N 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign 1.17 98227 chr2 56420472 56420472 A T rs199630451 CCDC85A Synonymous SNV G379G 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.138 98228 chr11 101832689 101832689 A T rs61742172 CEP126 Nonsynonymous SNV H308L 0.002 0.021 0 1 2 8 0.003 0 0 0 0 0 Benign 24.2 98229 chr11 64665170 64665170 A G rs767105340 ATG2A Synonymous SNV H1672H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.182 98230 chr11 64756726 64756726 G A rs200543774 BATF2 Nonsynonymous SNV R210C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 98231 chr13 96242060 96242060 G A rs139553238 DZIP1 Nonsynonymous SNV P638L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 32 98232 chr2 70441562 70441562 T C rs115611153 TIA1 Nonsynonymous SNV Q242R 0.009 0.026 0 2 11 10 0.005 0 0 0 0 0 Benign/Likely benign 23.5 98233 chr13 96540181 96540181 G C rs756055522 UGGT2 Nonsynonymous SNV N1001K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 98234 chr13 99992592 99992592 G A rs143276182 UBAC2 Nonsynonymous SNV D159N 0 0.003 0.01 0 0 1 0 3 0 0 0 0 4.287 98235 chr11 6524134 6524134 G A rs150283566 DNHD1 Nonsynonymous SNV V300M 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Likely benign 27.3 98236 chr11 65310990 65310990 C G LTBP3 Nonsynonymous SNV C795S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 98237 chr14 101301038 101301038 C G rs3194464 MEG3 0 0 0.126 0 0 0 0 37 0 0 4 0 16.39 98238 chr11 74883559 74883559 G A rs78825186 SLCO2B1 Nonsynonymous SNV R162H 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 9.763 98239 chr14 103173810 103173810 T C rs777014780 RCOR1 Synonymous SNV F207F 0 0 0.007 0 0 0 0 2 0 0 0 0 9.093 98240 chr14 103998935 103998935 T C TRMT61A Synonymous SNV S116S 0 0 0.007 0 0 0 0 2 0 0 0 0 1.26 98241 chr1 171254483 171254483 C G FMO1 Nonsynonymous SNV P471A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.4 98242 chr11 82443754 82443754 G A rs147683846 FAM181B Nonsynonymous SNV P340S 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 0.071 98243 chr11 76867745 76867745 G A rs34477144 MYO7A Synonymous SNV L170L 0.006 0.018 0.01 7 7 7 0.018 3 0 0 0 0 Benign/Likely benign 9.454 98244 chr1 173596257 173596257 A T rs12059066 ANKRD45 Nonsynonymous SNV L180I 0.011 0.01 0.02 2 13 4 0.005 6 0 0 1 0 6.147 98245 chr1 173596273 173596273 A G rs12059068 ANKRD45 Synonymous SNV Y174Y 0.011 0.01 0.02 2 13 4 0.005 6 0 0 1 0 0.372 98246 chr1 173725101 173725101 G A rs16846395 KLHL20 Synonymous SNV P297P 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 12.79 98247 chr1 173735378 173735378 T C rs7536773 KLHL20 Synonymous SNV L415L 0.009 0.018 0.01 6 11 7 0.015 3 0 0 0 0 7.265 98248 chr1 173772506 173772506 T G rs16846420 CENPL Synonymous SNV A186A 0.01 0.018 0.01 6 12 7 0.015 3 0 0 0 0 3.319 98249 chr1 173839435 173839435 G A rs9425761 ZBTB37 Synonymous SNV Q24Q 0.01 0.018 0.01 6 12 7 0.015 3 0 0 0 0 1.362 98250 chr1 173961992 173961992 T C rs10912711 RC3H1 Synonymous SNV K44K 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 4.436 98251 chr2 88425826 88425826 C G FABP1 Nonsynonymous SNV G37R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 98252 chr11 85627270 85627270 T C CCDC83 Synonymous SNV D358D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.897 98253 chr11 86098568 86098568 T C rs200126484 CCDC81 Nonsynonymous SNV I51T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 26.3 98254 chr11 61959636 61959636 C T rs116188604 SCGB1D1 Nonsynonymous SNV A55V 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 0.727 98255 chr2 88327576 88327576 T C rs146213007 KRCC1 Synonymous SNV E169E 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 0.004 98256 chr11 67164959 67164959 A T rs35632129 RAD9A Nonsynonymous SNV I293F 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 25.4 98257 chr2 98392388 98392388 A C TMEM131 Nonsynonymous SNV L1413R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 98258 chr11 67186995 67186995 G A rs41302427 CARNS1 Nonsynonymous SNV R174Q 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.2 98259 chr2 99438709 99438709 C T rs749072102 KIAA1211L Nonsynonymous SNV S676N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 98260 chr14 20344650 20344650 C T rs756591343 OR4K2 Nonsynonymous SNV S75F 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 98261 chr2 99767073 99767073 G A rs139891421 C2orf15 Nonsynonymous SNV D52N 0.025 0.021 0.01 5 29 8 0.013 3 0 0 0 0 0.243 98262 chr11 89224053 89224053 C T rs56326837 NOX4 Nonsynonymous SNV V30I 0.012 0.008 0.024 6 14 3 0.015 7 0 0 0 0 15.21 98263 chr11 89224058 89224058 G A rs56091966 NOX4 Nonsynonymous SNV P28L 0.012 0.008 0.024 6 14 3 0.015 7 0 0 0 0 13.88 98264 chr2 99976813 99976813 G A rs41280587 EIF5B Synonymous SNV K50K 0.006 0 0.017 1 7 0 0.003 5 0 0 0 0 13.22 98265 chr11 67265687 67265687 C T rs138386293 PITPNM1 Nonsynonymous SNV A531T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 98266 chr2 99980811 99980811 G T rs117138860 EIF5B Synonymous SNV G405G 0.018 0.021 0.017 2 21 8 0.005 5 0 0 0 0 9.865 98267 chr2 100010810 100010810 A G rs3197957 EIF5B Synonymous SNV T987T 0.02 0.021 0.017 2 23 8 0.005 5 0 0 0 0 5.411 98268 chr11 92498146 92498146 C T rs780359938 FAT3 Synonymous SNV F1362F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14 98269 chr11 92714801 92714801 C T rs61746674 MTNR1B Nonsynonymous SNV R138C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27 98270 chr11 63720284 63720284 T C rs765051375 NAA40 Nonsynonymous SNV I135T 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 23.9 98271 chr2 105708941 105708941 G A rs116793449 MRPS9 Nonsynonymous SNV R245Q 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 27.6 98272 chr11 94353011 94353011 C T rs779970339 PIWIL4 Nonsynonymous SNV L752F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.19 98273 chr11 118498458 118498458 C T rs61734531 PHLDB1 Nonsynonymous SNV R307C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.29 98274 chr11 88027390 88027390 A C CTSC Synonymous SNV G392G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.834 98275 chr11 36298646 36298646 T C COMMD9 Synonymous SNV A73A 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 3.57 98276 chr11 70049739 70049739 G C rs749488792 FADD Synonymous SNV G58G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.421 98277 chr11 64055572 64055572 C T rs147288418 GPR137 Synonymous SNV G223G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.02 98278 chr11 704586 704586 C - TMEM80 H265Mfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 98279 chr12 100466528 100466528 G A rs143906625 UHRF1BP1L Synonymous SNV L491L 0.018 0.016 0.02 2 21 6 0.005 6 0 0 0 0 Benign 6.364 98280 chr11 433357 433357 G - rs766224216 ANO9 H103Tfs*21 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 98281 chr11 92703070 92703070 T G rs141804752 MTNR1B Nonsynonymous SNV L60R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 risk factor 26.1 98282 chr12 10165456 10165456 T C rs143792065 CLEC12B Nonsynonymous SNV I55T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 3.779 98283 chr11 64601211 64601211 C T rs370475063 CDC42BPG Nonsynonymous SNV G855E 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 23.4 98284 chr11 121030874 121030874 A G rs147354818 TECTA Nonsynonymous SNV I1574V 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.21 98285 chr2 110372412 110372412 G A SOWAHC Nonsynonymous SNV D116N 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 8.826 98286 chr11 4471469 4471469 A C rs61997232 OR52K2 Nonsynonymous SNV Q300H 0.014 0.005 0.003 5 17 2 0.013 1 0 0 0 0 22.9 98287 chr11 64717891 64717891 G A rs112044647 MAJIN Synonymous SNV R53R 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 13.19 98288 chr12 1023670 1023670 G A rs28910277 RAD52 Synonymous SNV H221H 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.282 98289 chr11 64809061 64809061 C T rs112893496 SAC3D1 Synonymous SNV S99S 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 15.45 98290 chr1 200819136 200819136 C T CAMSAP2 Nonsynonymous SNV T1064I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.2 98291 chr11 123624673 123624673 G A rs143934026 OR6X1 Nonsynonymous SNV A185V 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 12.75 98292 chr11 65146887 65146887 A G rs79141870 SLC25A45 Nonsynonymous SNV M76T 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 0.001 98293 chr11 65156866 65156866 G A rs76814425 FRMD8 Synonymous SNV T40T 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 13.38 98294 chr2 114476839 114476839 A G rs146995908 SLC35F5 Nonsynonymous SNV F457S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24 98295 chr14 23572703 23572703 C T rs7152493 LMLN2 Nonsynonymous SNV A220T 0 0 0.177 0 0 0 0 52 0 0 25 0 5.197 98296 chr11 65325326 65325334 CAGCAGCAG - rs577530923 LTBP3 L33_L35del 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 98297 chr11 65346881 65346881 G A rs79261382 EHBP1L1 Nonsynonymous SNV V78M 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 27.1 98298 chr11 65348744 65348744 G A rs762857967 EHBP1L1 Nonsynonymous SNV A256T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.09 98299 chr2 120005609 120005609 C T rs747339756 STEAP3 Nonsynonymous SNV R283W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 19.13 98300 chr1 201353941 201353941 G A rs138044157 LAD1 Nonsynonymous SNV S385L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.88 98301 chr2 128079788 128079788 G T rs79135681 MAP3K2 Synonymous SNV T293T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 6.109 98302 chr2 128249590 128249590 G T rs76868291 IWS1 Synonymous SNV P668P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.715 98303 chr2 128366363 128366363 C T rs138959423 MYO7B Synonymous SNV T908T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.96 98304 chr2 128388794 128388794 G A rs142758251 MYO7B Nonsynonymous SNV D1625N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.39 98305 chr2 128393359 128393359 G A rs150007517 MYO7B Synonymous SNV A1935A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13 98306 chr12 106848336 106848336 T C POLR3B Nonsynonymous SNV Y656H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 27.8 98307 chr14 24546811 24546811 T G rs141172183 CPNE6 Nonsynonymous SNV S516A 0 0 0.007 0 0 0 0 2 0 0 0 0 6.161 98308 chr14 24710479 24710479 G A TINF2 Synonymous SNV A111A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 98309 chr11 6567476 6567476 G A DNHD1 Synonymous SNV E1769E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.336 98310 chr12 102117558 102117558 G T rs141024430 CHPT1 Nonsynonymous SNV G333V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 17.19 98311 chr1 203154465 203154465 C T rs146010120 CHI3L1 Nonsynonymous SNV R35Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 98312 chr11 65984225 65984225 C G rs76179533 PACS1 Synonymous SNV T319T 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Benign 14.18 98313 chr11 66031402 66031402 G A rs79498438 KLC2 Synonymous SNV R230R 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Benign 12.06 98314 chr11 66100732 66100732 G A rs138760461 RIN1 Synonymous SNV F596F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.084 98315 chr2 131688785 131688785 C G rs376208636 ARHGEF4 Synonymous SNV V1271V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.09 98316 chr11 66249852 66249852 G T rs114567543 DPP3 Nonsynonymous SNV A61S 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 14.28 98317 chr11 66254042 66254042 A G rs145950613 DPP3 Nonsynonymous SNV E101G 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 12.83 98318 chr11 66261044 66261044 C T rs76777675 DPP3 Synonymous SNV F413F 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 Benign 14.31 98319 chr11 66287196 66287196 G A rs35520756 BBS1 Nonsynonymous SNV E234K 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Benign/Likely benign 27.8 98320 chr2 141773450 141773450 T C rs75995642 LRP1B Nonsynonymous SNV I669V 0.009 0.005 0.027 5 10 2 0.013 8 0 0 0 0 Benign 1.011 98321 chr14 35409700 35409700 A C IGBP1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.817 98322 chr1 205065927 205065927 A G rs35927235 RBBP5 Synonymous SNV L427L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.487 98323 chr11 803575 803575 C T rs148866521 PIDD1 Nonsynonymous SNV R103Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 98324 chr2 152495898 152495898 G A rs368965372 NEB Nonsynonymous SNV R2964C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 34 98325 chr14 38091571 38091571 C T rs186154687 TTC6 Nonsynonymous SNV S117L 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 98326 chr11 66610978 66610978 G C rs111716594 RCE1 Nonsynonymous SNV E18Q 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 8.003 98327 chr11 66620270 66620270 G A rs140746469 PC Synonymous SNV P517P 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Benign/Likely benign 13.04 98328 chr14 39304948 39304948 G C rs555122667 LINC00639 0 0 0.003 0 0 0 0 1 0 0 0 0 1.517 98329 chr14 39560784 39560784 A G rs144765020 SEC23A Nonsynonymous SNV I167T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 25.7 98330 chr11 1258264 1258264 A G MUC5B Nonsynonymous SNV K1056R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 98331 chr11 67166548 67166548 G A rs142601206 PPP1CA Synonymous SNV L160L 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 4.342 98332 chr11 85438129 85438129 C A SYTL2 Nonsynonymous SNV V758F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.893 98333 chr11 85459425 85459425 T C SYTL2 Nonsynonymous SNV N48S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 98334 chr2 160076309 160076309 A G rs11903200 TANC1 Synonymous SNV A1002A 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 0.299 98335 chr2 160086468 160086468 G A rs13421084 TANC1 Nonsynonymous SNV G1310S 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 0.009 98336 chr12 113387002 113387002 G A rs185547332 OAS3 Nonsynonymous SNV V456I 0.008 0.01 0 0 9 4 0 0 0 0 0 0 10.57 98337 chr2 160105007 160105007 A G rs13407368 WDSUB1 Synonymous SNV R260R 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 9.505 98338 chr12 109623515 109623515 C T rs143351589 ACACB Synonymous SNV A650A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 16.19 98339 chr2 160114315 160114315 G A rs3815475 WDSUB1 Synonymous SNV D133D 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 8.785 98340 chr14 51370849 51370849 T C rs7154732 ABHD12B Nonsynonymous SNV F257L 0.038 0.016 0.024 17 45 6 0.044 7 0 0 0 0 30 98341 chr2 160193992 160193992 C T rs7559010 BAZ2B Nonsynonymous SNV V1862I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.68 98342 chr14 51410969 51410969 G A rs77316189 PYGL Synonymous SNV D51D 0.033 0.013 0.024 17 39 5 0.044 7 1 0 0 0 Benign 12.29 98343 chr2 152364589 152364589 G A rs41270201 NEB Nonsynonymous SNV S6093L 0.012 0.01 0.014 6 14 4 0.015 4 0 0 0 0 Benign/Likely benign 27.2 98344 chr2 160746819 160746819 G A rs771386773 LY75, LY75-CD302 Nonsynonymous SNV T236M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 98345 chr12 57585281 57585281 A G rs148875245 LRP1 Nonsynonymous SNV N2472S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 19.65 98346 chr1 211843672 211843672 C T NEK2 Nonsynonymous SNV R239H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.7 98347 chr2 165365049 165365049 C T rs41268657 GRB14 Synonymous SNV A226A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 16.31 98348 chr12 119617350 119617350 G T rs55826713 HSPB8 Nonsynonymous SNV R78M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 98349 chr14 55408399 55408399 T G rs115022805 WDHD1 Nonsynonymous SNV N944H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.76 98350 chr11 6977325 6977325 C A rs34145818 ZNF215 Nonsynonymous SNV H135N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 23.5 98351 chr11 93431518 93431518 A T CEP295 Nonsynonymous SNV D1147V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 98352 chr14 57280046 57280046 C T rs61997667 OTX2-AS1 0 0 0.139 0 0 0 0 41 0 0 5 0 15.58 98353 chr11 93455200 93455200 G A rs199966374 CEP295 Synonymous SNV L1977L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 98354 chr11 134054872 134054872 G A rs147103021 NCAPD3 Nonsynonymous SNV T616I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.18 98355 chr11 70172819 70172819 C T rs143160253 PPFIA1 Synonymous SNV S275S 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 9.11 98356 chr11 70269063 70269063 G T CTTN Nonsynonymous SNV G270C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 98357 chr14 59798103 59798103 G A rs138022563 DAAM1 Synonymous SNV G579G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 98358 chr12 121461798 121461798 C T rs80137384 OASL Nonsynonymous SNV V348M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.9 98359 chr12 10066199 10066199 T C rs117696017 CLEC2A Nonsynonymous SNV K164R 0.009 0.013 0.007 2 11 5 0.005 2 1 0 0 0 10.99 98360 chr11 71954893 71954893 G A rs182932220 PHOX2A Synonymous SNV L52L 0.026 0.01 0.01 6 30 4 0.015 3 0 0 1 0 Benign 9.833 98361 chr12 121883201 121883201 G A rs144767213 KDM2B Synonymous SNV A629A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.71 98362 chr1 217793610 217793610 T C rs149700392 GPATCH2 Synonymous SNV L96L 0.011 0.005 0.01 4 13 2 0.01 3 0 0 0 0 4.855 98363 chr14 63175105 63175105 C T rs36004050 KCNH5 Synonymous SNV V696V 0.026 0.018 0.017 10 30 7 0.026 5 0 0 0 0 Benign 8.086 98364 chr11 18303729 18303729 G A rs145096977 HPS5 Nonsynonymous SNV L919F 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 98365 chr11 18313392 18313392 T G rs139387371 HPS5 Synonymous SNV S565S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.487 98366 chr12 113824828 113824828 G A rs750718060 PLBD2 Nonsynonymous SNV R426Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 35 98367 chr11 18318444 18318444 G A rs201582551 HPS5 Nonsynonymous SNV H357Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 98368 chr11 18327000 18327000 A T rs148986553 HPS5 Nonsynonymous SNV S175T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 98369 chr11 73850838 73850838 G A rs370615429 C2CD3 Synonymous SNV Y173Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.108 98370 chr11 18503306 18503306 G A rs8018 TSG101 Synonymous SNV I318I 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 Benign 13.47 98371 chr12 117962872 117962872 G A rs56178407 KSR2 Synonymous SNV I668I 0.01 0.01 0.027 4 12 4 0.01 8 0 0 0 0 Benign 9.884 98372 chr12 6619822 6619822 C T NCAPD2 Nonsynonymous SNV P97L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 98373 chr12 104048446 104048446 G T rs149524008 STAB2 Nonsynonymous SNV K507N 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign 0.023 98374 chr12 104121091 104121091 T C rs141432051 STAB2 Nonsynonymous SNV F1633S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 98375 chr14 67674921 67674921 A G rs35236021 FAM71D Synonymous SNV E305E 0.01 0.016 0.014 4 12 6 0.01 4 1 0 0 0 11.52 98376 chr12 123214166 123214166 G A rs140482291 HCAR1 Nonsynonymous SNV L241F 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 19.08 98377 chr12 123345296 123345296 G A rs141813189 HIP1R Nonsynonymous SNV A911T 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 34 98378 chr2 179439625 179439625 G T TTN Nonsynonymous SNV T14680N 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 4.941 98379 chr11 213377 213377 C T rs75503761 RIC8A Synonymous SNV H478H 0.01 0.013 0.017 6 12 5 0.015 5 0 0 0 0 17.2 98380 chr1 226053638 226053638 G C rs370651830 TMEM63A Synonymous SNV L235L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.735 98381 chr14 74983580 74983580 C T rs151176143 LTBP2 Synonymous SNV S951S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.94 98382 chr2 176995390 176995390 G T rs372539818 HOXD8 Nonsynonymous SNV G99V 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 23.9 98383 chr2 179621351 179621351 G A rs779064556 TTN Stop gain Q3447X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 39 98384 chr12 109490557 109490557 C A rs370678568 USP30 Nonsynonymous SNV A25E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 98385 chr12 123286287 123286287 G A rs75175797 CCDC62 Nonsynonymous SNV V532M 0.006 0.005 0.017 4 7 2 0.01 5 0 0 0 0 1.702 98386 chr12 109577432 109577432 C T rs368045407 ACACB Synonymous SNV A74A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.96 98387 chr14 75537349 75537349 C G rs192380390 ZC2HC1C Nonsynonymous SNV P25A 0.01 0.01 0.003 14 12 4 0.036 1 0 0 0 0 7.351 98388 chr12 109719325 109719325 G A rs145199948 FOXN4 Nonsynonymous SNV P394L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.2 98389 chr14 76639914 76639914 A G GPATCH2L Synonymous SNV L310L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 98390 chr12 132547132 132547132 - CAGCAGCAA rs778730154 EP400 Q2748_T2749insQQQ 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 98391 chr14 77746364 77746364 C T rs202237807 POMT2 Synonymous SNV P595P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.1 98392 chr14 77755108 77755108 T C rs147268052 POMT2 Nonsynonymous SNV K417R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.81 98393 chr12 110293565 110293565 G T rs139982828 GLTP Synonymous SNV R102R 0.011 0.01 0.007 3 13 4 0.008 2 0 0 0 0 Benign 7.4 98394 chr14 77797469 77797469 G C GSTZ1 Synonymous SNV L152L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.005 98395 chr11 290888 290888 G A rs150075556 PGGHG Synonymous SNV L227L 0.005 0.018 0.014 0 6 7 0 4 0 0 0 0 2.174 98396 chr12 110784210 110784210 A G rs140234740 ATP2A2 Nonsynonymous SNV I1022V 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 9.672 98397 chr12 110950599 110950603 ATAAT - rs541020427 RAD9B N64Mfs*13 0.003 0 0.01 0 3 0 0 3 0 0 0 0 98398 chr12 124829156 124829156 C T rs193097789 NCOR2 Synonymous SNV P1557P 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 11.09 98399 chr11 31327244 31327244 G C rs143506703 DCDC1 Synonymous SNV L224L 0.015 0.003 0.007 3 18 1 0.008 2 0 0 0 0 0.874 98400 chr11 85448679 85448679 G A rs17744245 SYTL2 Nonsynonymous SNV A137V 0.027 0.003 0.014 1 32 1 0.003 4 0 0 0 0 12.32 98401 chr12 14599948 14599948 C T rs150124510 ATF7IP Synonymous SNV R651R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 13.22 98402 chr1 228559430 228559430 G A rs41305136 OBSCN Nonsynonymous SNV R6984Q 0.019 0.036 0.02 10 22 14 0.026 6 0 0 0 0 0.997 98403 chr14 86089382 86089382 T C rs111409915 FLRT2 Synonymous SNV I508I 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 0.006 98404 chr1 228602705 228602705 - AAGTA rs745733217 TRIM17 Frameshift insertion D25Sfs*5 0.005 0.016 0 2 6 6 0.005 0 0 0 0 0 98405 chr14 91666162 91666162 G T rs114411077 DGLUCY Nonsynonymous SNV A453S 0 0 0.007 0 0 0 0 2 0 0 0 0 10.8 98406 chr11 4107939 4107939 - ACC rs753506968 STIM1 T576_F577insT 0 0.003 0 0 0 1 0 0 0 0 0 0 98407 chr14 93650410 93650410 C T rs148700787 MOAP1 Nonsynonymous SNV E60K 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 22.4 98408 chr14 94046596 94046596 A G rs114140274 UNC79 Synonymous SNV G845G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 6.337 98409 chr14 94079210 94079210 C T rs149617798 UNC79 Synonymous SNV H1274H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 11.73 98410 chr11 94180441 94180441 C T rs139461096 MRE11 Nonsynonymous SNV R576Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.87 98411 chr12 27462126 27462126 A C STK38L Nonsynonymous SNV E130A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 98412 chr14 94471213 94471213 G A rs77889679 CCDC197 Nonsynonymous SNV G171S 0 0 0.037 0 0 0 0 11 0 0 0 0 1.347 98413 chr2 201369643 201369643 T C rs149993731 KCTD18 Nonsynonymous SNV Y67C 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 25.3 98414 chr14 94964372 94964372 G A rs371586193 SERPINA12 Synonymous SNV H121H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.255 98415 chr14 95109890 95109890 T A rs148334181 SERPINA13P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.3 98416 chr12 100717343 100717343 T C rs762834760 SCYL2 Nonsynonymous SNV I479T 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 23.8 98417 chr14 96798840 96798840 C T rs117507139 ATG2B Nonsynonymous SNV V454M 0.006 0.008 0.014 5 7 3 0.013 4 0 0 0 0 Benign 24.4 98418 chr2 202490757 202490757 A C TMEM237 Nonsynonymous SNV L384R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 98419 chr1 244541827 244541827 G C rs41269385 C1orf100 Nonsynonymous SNV D71H 0.012 0.008 0.01 5 14 3 0.013 3 0 0 0 0 24.8 98420 chr2 202611400 202611400 T C rs779616966 ALS2 Synonymous SNV E629E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 1.851 98421 chr1 245530177 245530177 C T rs201717788 KIF26B Synonymous SNV V169V 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 12.27 98422 chr12 123433310 123433310 T C rs752290653 ABCB9 Nonsynonymous SNV N305S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 98423 chr11 57259261 57259261 G C SLC43A1 Nonsynonymous SNV L316V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 98424 chr12 123467067 123467068 AC - rs759023993 ARL6IP4 H390Qfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 98425 chr12 19475601 19475601 C T rs71539465 PLEKHA5 Synonymous SNV A632A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.11 98426 chr12 19500060 19500060 C T rs371972893 PLEKHA5 Nonsynonymous SNV P764S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 15.51 98427 chr12 123782620 123782620 C T SBNO1 Stop gain W1315X 0.001 0 0 0 1 0 0 0 0 0 0 0 50 98428 chr15 100889930 100889930 C G rs188157848 SPATA41 0 0 0.007 0 0 0 0 2 0 0 0 0 5.225 98429 chr2 198436934 198436934 G A rs139202328 RFTN2 Nonsynonymous SNV T435I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.1 98430 chr12 104332224 104332224 C T rs116891695 HSP90B1 Nonsynonymous SNV P321L 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 26.5 98431 chr13 111082772 111082772 G T rs62621885 COL4A2 Nonsynonymous SNV V192F 0.012 0.003 0.003 3 14 1 0.008 1 0 0 0 0 Benign 21.3 98432 chr15 21938182 21938182 A G rs2343904 LOC646214 0 0 0.119 0 0 0 0 35 0 0 15 0 2.341 98433 chr12 107114544 107114544 C T rs371391011 RFX4 Nonsynonymous SNV A320V 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.5 98434 chr12 126137082 126137082 A G rs771264018 TMEM132B Synonymous SNV V177V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.984 98435 chr1 248059253 248059253 G A rs141229039 OR2W3 Nonsynonymous SNV R122Q 0.007 0.003 0 0 8 1 0 0 0 0 0 0 26.6 98436 chr15 25232026 25232026 - GT rs762446615 PWAR5 0 0 0.031 0 0 0 0 9 0 0 0 0 98437 chr15 25415733 25415733 T C rs150959554 SNHG14 0 0 0.017 0 0 0 0 5 0 0 0 0 1.065 98438 chr15 25417676 25417676 C T rs2739839 SNHG14 0 0 0.054 0 0 0 0 16 0 0 2 0 5.627 98439 chr12 108686280 108686280 G A rs146650378 CMKLR1 Nonsynonymous SNV R154C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.3 98440 chr13 113743996 113743996 A T rs143456347 MCF2L Synonymous SNV G931G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 98441 chr2 209308236 209308236 G T rs144641723 PTH2R Nonsynonymous SNV A114S 0.012 0.005 0.02 2 14 2 0.005 6 0 0 0 0 0.162 98442 chr2 210858049 210858049 C T UNC80 Nonsynonymous SNV P3046L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 98443 chr12 48920217 48920217 T C rs140976482 OR8S1 Nonsynonymous SNV I268T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.77 98444 chr12 29667430 29667430 G A rs749302905 TMTC1 Synonymous SNV L805L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.46 98445 chr13 114077172 114077172 C T rs145187729 ADPRHL1 Nonsynonymous SNV A344T 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 20.5 98446 chr2 214142568 214142568 G A rs2708159 SPAG16-DT 0.006 0.008 0.007 1 7 3 0.003 2 0 0 1 0 4.602 98447 chr13 114277541 114277541 C T rs4150756 TFDP1 Synonymous SNV L42L 0.002 0 0.01 0 2 0 0 3 0 0 0 0 5.529 98448 chr2 214143185 214143185 T C rs2708162 SPAG16-DT 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 1.972 98449 chr15 31775812 31775812 C T rs758052961 OTUD7A Synonymous SNV T822T 0.011 0.01 0.007 3 13 4 0.008 2 0 0 0 0 10.74 98450 chr15 33358853 33358853 C G rs74008203 FMN1 Synonymous SNV R411R 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign 8.247 98451 chr1 248525086 248525086 G A rs45604640 OR2T4 Synonymous SNV L68L 0.024 0.023 0.014 3 28 9 0.008 4 0 0 0 0 1.622 98452 chr15 33360071 33360071 A G rs376208074 FMN1 Synonymous SNV D5D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 98453 chr12 132399750 132399750 G A rs150893028 ULK1 Nonsynonymous SNV G499D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 98454 chr12 50796555 50796555 A T rs368134552 LARP4 Star tloss M1? 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 10.3 98455 chr12 5154064 5154064 G A rs12720442 KCNA5 Nonsynonymous SNV A251T 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign/Likely benign 13.79 98456 chr2 219029100 219029100 G A rs56179901 CXCR1 Nonsynonymous SNV R279C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 23.2 98457 chr12 39124094 39124094 G A rs35598213 CPNE8 Synonymous SNV N263N 0.028 0.029 0.024 7 33 11 0.018 7 0 1 0 0 11.66 98458 chr12 39299265 39299265 C G rs34024109 CPNE8 Synonymous SNV T24T 0.026 0.023 0.02 3 30 9 0.008 6 0 1 0 0 19.33 98459 chr15 40328574 40328574 - CT rs754471618 SRP14 Frameshift insertion P124Qfs*25 0.001 0 0.003 0 1 0 0 1 0 0 0 0 98460 chr15 40564441 40564441 G A rs150100570 BUB1B-PAK6, PAK6 Nonsynonymous SNV R292Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.6 98461 chr12 113436089 113436089 A G rs370123050 OAS2 Synonymous SNV P294P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.22 98462 chr2 3687898 3687898 C T rs368391846 COLEC11 Nonsynonymous SNV P28L 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 98463 chr13 28498404 28498404 G A rs143517122 PDX1 Nonsynonymous SNV A140T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.253 98464 chr12 115109731 115109731 G A rs369538205 TBX3 Nonsynonymous SNV A696V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.4 98465 chr2 8888082 8888082 A G KIDINS220 Nonsynonymous SNV S1156P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.81 98466 chr2 220078564 220078564 G C rs149363094 ABCB6 Nonsynonymous SNV T475S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Likely benign 9.164 98467 chr2 10016065 10016065 A T rs937710557 TAF1B Nonsynonymous SNV M209L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.54 98468 chr2 10581770 10581770 C T rs573416709 ODC1 Nonsynonymous SNV R240H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 98469 chr12 48380926 48380926 G A rs140985224 COL2A1 Nonsynonymous SNV P365S 0.004 0.013 0.007 1 5 5 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 98470 chr12 16510629 16510629 C T rs373917994 MGST1 Nonsynonymous SNV R73C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 98471 chr12 18238628 18238628 C G rs202151617 RERGL 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 98472 chr11 489680 489680 C T rs368563620 PTDSS2 Synonymous SNV F145F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.54 98473 chr12 120995465 120995465 A G rs148043070 RNF10 Nonsynonymous SNV D316G 0.003 0 0 0 4 0 0 0 0 0 0 0 19.83 98474 chr12 49169113 49169113 G A ADCY6 Synonymous SNV T651T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 11.99 98475 chr2 220026772 220026772 G C rs201624694 SLC23A3 Synonymous SNV L447L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 1.975 98476 chr11 62289498 62289498 T G rs368256739 AHNAK Nonsynonymous SNV M4131L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.81 98477 chr2 220439487 220439487 A G rs144014148 INHA Nonsynonymous SNV M114V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 98478 chr11 62300105 62300105 T C rs374440424 AHNAK Nonsynonymous SNV E595G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.7 98479 chr2 220040963 220040963 G A rs145875060 CNPPD1 Nonsynonymous SNV L54F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.2 98480 chr2 220496798 220496798 - GAA rs745567366 SLC4A3 K340_L341insK 0.006 0.013 0 3 7 5 0.008 0 1 0 0 0 98481 chr2 223161922 223161922 G A PAX3 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.668 98482 chr13 42876835 42876835 T G rs61757547 AKAP11 Nonsynonymous SNV F1318C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 6.451 98483 chr12 53875896 53875896 A G MAP3K12 Synonymous SNV S803S 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 8.368 98484 chr12 50754554 50754554 - T FAM186A Frameshift insertion Q190Tfs*8 0.003 0.008 0 0 4 3 0 0 0 0 0 0 98485 chr2 24276800 24276800 G A rs772451187 FKBP1B Synonymous SNV T22T 0.003 0.01 0 0 3 4 0 0 0 0 0 0 14.94 98486 chr12 2936425 2936425 G A rs117603123 NRIP2 Nonsynonymous SNV A265V 0.005 0.013 0.003 0 6 5 0 1 0 0 0 0 23.2 98487 chr12 124270310 124270310 T C rs138303428 DNAH10 Synonymous SNV S416S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.021 98488 chr13 47409701 47409701 G A rs141413930 HTR2A Synonymous SNV L145L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.48 98489 chr12 31815202 31815202 G A rs138229541 ETFBKMT 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 24.7 98490 chr15 50593527 50593527 A G rs146967487 GABPB1 Synonymous SNV S170S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.768 98491 chr2 26700694 26700694 A C rs76130130 OTOF Nonsynonymous SNV I23S 0.008 0.021 0.01 3 9 8 0.008 3 0 0 0 0 Benign/Likely benign 2.715 98492 chr12 52779008 52779008 C T rs79539700 KRT84 Nonsynonymous SNV G121D 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 26.2 98493 chr15 51260460 51260460 G A rs142215198 AP4E1 Nonsynonymous SNV V543I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 26.6 98494 chr2 224849649 224849649 T C rs199864365 SERPINE2 Nonsynonymous SNV N235S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.11 98495 chr12 56531660 56531660 C T rs74967048 ESYT1 Synonymous SNV V730V 0.003 0.013 0.003 1 4 5 0.003 1 0 0 0 0 17.48 98496 chr2 27676567 27676567 C A rs751716803 IFT172 Nonsynonymous SNV D1251Y 0.005 0.01 0 0 6 4 0 0 0 0 0 0 27.6 98497 chr2 232156084 232156084 C T rs148296188 ARMC9 Nonsynonymous SNV R516C 0.009 0.021 0.014 3 11 8 0.008 4 0 0 0 0 34 98498 chr2 227963437 227963437 A G COL4A4 Synonymous SNV L393L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.98 98499 chr12 5685040 5685040 G A rs775829557 ANO2 Nonsynonymous SNV P861S 0.006 0.008 0 0 7 3 0 0 0 0 0 0 24.8 98500 chr15 52892412 52892412 A G FAM214A Nonsynonymous SNV I861T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.01 98501 chr13 52657396 52657396 C T rs544613868 NEK5 Synonymous SNV Q524Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.239 98502 chr12 5722105 5722105 T C rs770062677 ANO2 Nonsynonymous SNV S650G 0.006 0.008 0 0 7 3 0 0 0 0 0 0 19.8 98503 chr12 57693944 57693944 C T rs774306119 R3HDM2 Synonymous SNV L76L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.46 98504 chr12 42512966 42512966 - TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC GXYLT1 Stop gain L77Efs*19 0.009 0.008 0 0 10 3 0 0 0 0 0 0 98505 chr12 4479657 4479657 G A rs868121222 FGF23 Nonsynonymous SNV P203L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 98506 chr12 58149399 58149399 C T rs779553729 MARCHF9 Nonsynonymous SNV P30S 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 0.008 98507 chr12 46322327 46322327 A G rs898190099 SCAF11 Nonsynonymous SNV L386P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 98508 chr2 30142865 30142865 C G rs199584443 ALK Nonsynonymous SNV G221R 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Uncertain significance 23.1 98509 chr11 65305562 65305562 C T SCYL1 Nonsynonymous SNV T702I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 3.94 98510 chr13 93518631 93518631 C T rs140842951 GPC5 Nonsynonymous SNV A553V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 9.1 98511 chr15 58982987 58982987 A G rs2052805 HSP90AB4P 0 0 0.037 0 0 0 0 11 0 0 1 0 6.29 98512 chr12 6143978 6143978 C T rs41276738 VWF Nonsynonymous SNV R854Q 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 Pathogenic/Likely pathogenic 35 98513 chr15 58983876 58983877 TT - rs71116587 HSP90AB4P 0 0 0.02 0 0 0 0 6 0 0 1 0 98514 chr2 233388527 233388527 - C rs730882064 PRSS56 Frameshift insertion Q356Pfs*152 0.002 0 0 1 2 0 0.003 0 0 0 0 0 98515 chr15 59180748 59180748 A G rs112400142 SLTM Synonymous SNV D719D 0.009 0.026 0.024 3 10 10 0.008 7 0 0 0 0 8.528 98516 chr15 59358982 59358982 A G RNF111 Synonymous SNV T462T 0 0 0.007 0 0 0 0 2 0 0 0 0 7.485 98517 chr11 65350116 65350116 C T EHBP1L1 Nonsynonymous SNV A658V 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 8.22 98518 chr15 60771435 60771435 A G RORA-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.037 98519 chr12 53553926 53553926 C T rs148036929 CSAD Nonsynonymous SNV D149N 0.009 0.01 0 5 10 4 0.013 0 0 0 0 0 11.23 98520 chr2 32740520 32740520 A G rs142001189 BIRC6 Nonsynonymous SNV I3678V 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 0.004 98521 chr11 65391054 65391054 C G rs775545212 PCNX3 Nonsynonymous SNV T817S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 20.1 98522 chr2 32836549 32836549 A G rs148154265 BIRC6 Nonsynonymous SNV E4765G 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 33 98523 chr15 62930554 62930554 A G rs116525722 MGC15885 0 0 0.014 0 0 0 0 4 0 0 0 0 4.784 98524 chr2 36970307 36970307 A T rs138143496 VIT Nonsynonymous SNV K61N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 98525 chr2 239009118 239009118 C T rs202224715 ESPNL Nonsynonymous SNV R20W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.8 98526 chr12 54422504 54422504 C T rs144307645 HOXC6 Nonsynonymous SNV R67W 0.009 0.01 0.01 1 11 4 0.003 3 0 0 0 0 34 98527 chr2 239033943 239033943 G A rs201765703 ESPNL Synonymous SNV P340P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.623 98528 chr12 19593083 19593083 G A rs748961386 AEBP2 Synonymous SNV G150G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.904 98529 chr12 20522222 20522222 G A rs774067766 PDE3A Nonsynonymous SNV A2T 0.002 0 0 0 2 0 0 0 0 0 0 0 23 98530 chr11 65652095 65652097 GGC - FIBP A284del 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 98531 chr14 101347774 101347774 G A rs371727033 RTL1 Nonsynonymous SNV P1118S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.2 98532 chr2 241079724 241079724 G A rs35889242 OTOS Nonsynonymous SNV P7L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.008 98533 chr11 6630349 6630349 A G rs761882549 ILK Nonsynonymous SNV N194D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.81 98534 chr12 234962 234962 G A rs199751187 IQSEC3 Nonsynonymous SNV G263S 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 12.27 98535 chr12 56222235 56222235 A G rs771734581 DNAJC14 Nonsynonymous SNV W70R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.2 98536 chr2 241696840 241696840 - TCC rs758125020 KIF1A E917_D918insE 0.002 0.003 0 0 2 1 0 0 0 0 0 0 98537 chr15 69320571 69320571 G A rs754404114 NOX5 Nonsynonymous SNV R64Q 0 0 0.007 0 0 0 0 2 0 0 0 0 24 98538 chr12 7060835 7060835 C T rs782258923 PTPN6 Synonymous SNV H24H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.59 98539 chr11 6648332 6648332 T A rs146411944 DCHS1 Nonsynonymous SNV T1980S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.007 98540 chr15 69696312 69696312 G T rs3743096 LOC145694 0 0 0.007 0 0 0 0 2 0 0 0 0 1.135 98541 chr15 69857658 69857658 G C rs75576598 DRAIC 0 0 0.01 0 0 0 0 3 0 0 0 0 1.219 98542 chr2 47278901 47278901 G A rs3739100 TTC7A Synonymous SNV S324S 0.023 0.018 0.017 12 27 7 0.031 5 0 0 0 0 9.786 98543 chr2 242076566 242076566 G C rs749802717 PASK Synonymous SNV A330A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.323 98544 chr12 52115370 52115370 A G rs776446104 SCN8A Nonsynonymous SNV H559R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.329 98545 chr2 241404157 241404157 G A rs369821544 GPC1 Synonymous SNV T336T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.945 98546 chr2 54041755 54041755 A G ERLEC1 Synonymous SNV L380L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.7 98547 chr11 67430723 67430723 C T rs140105486 ALDH3B2 Nonsynonymous SNV R374H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 17.21 98548 chr2 241827723 241827723 C T rs368069678 MAB21L4 Nonsynonymous SNV V413I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.18 98549 chr11 68115489 68115489 A G rs41494349 LRP5 Nonsynonymous SNV Q89R 0.005 0.018 0.01 4 6 7 0.01 3 0 0 0 0 Benign 9.778 98550 chr14 105916431 105916431 T G MTA1 Nonsynonymous SNV V93G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.41 98551 chr12 30863085 30863085 G A rs7137533 CAPRIN2 Synonymous SNV Y711Y 0.002 0 0.007 5 2 0 0.013 2 0 0 0 0 4.627 98552 chr12 58013742 58013742 G T rs144483451 LOC101927583 0.005 0.003 0.003 0 6 1 0 1 1 0 0 0 1.794 98553 chr12 80655849 80655849 C T rs76420383 OTOGL Nonsynonymous SNV P655S 0.019 0.018 0 3 22 7 0.008 0 0 0 0 0 Benign/Likely benign 30 98554 chr3 5229628 5229628 G C EDEM1 Synonymous SNV L46L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.448 98555 chr12 58196095 58196095 C T rs139933127 AVIL Nonsynonymous SNV E667K 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 25.5 98556 chr2 64780466 64780466 A G rs34934815 AFTPH Nonsynonymous SNV T620A 0.013 0.018 0.003 7 15 7 0.018 1 0 0 0 0 1.815 98557 chr15 76551993 76551993 C T rs77899905 TYRO3P 0 0 0.031 0 0 0 0 9 0 0 0 0 5.284 98558 chr15 76552005 76552005 - T TYRO3P 0 0 0.048 0 0 0 0 14 0 0 0 0 98559 chr15 76552010 76552010 G A rs80039524 TYRO3P 0 0 0.054 0 0 0 0 16 0 0 0 0 1.247 98560 chr15 76552192 76552192 T C TYRO3P 0 0 0.054 0 0 0 0 16 0 0 0 0 2.574 98561 chr12 32136350 32136350 C A rs370608026 RESF1 Nonsynonymous SNV P821T 0.001 0 0 7 1 0 0.018 0 0 0 0 0 15.92 98562 chr12 80839362 80839362 G A rs184871373 PTPRQ Synonymous SNV R85R 0.02 0.013 0.003 3 24 5 0.008 1 0 0 0 0 Likely benign 8.142 98563 chr12 63541203 63541203 G C rs143654785 AVPR1A Nonsynonymous SNV T398R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.32 98564 chr12 32140171 32140171 A G RESF1 0.007 0 0 1 8 0 0.003 0 0 0 0 0 23.3 98565 chr12 8629965 8629965 A G rs149856067 CLEC6A Nonsynonymous SNV I149V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.003 98566 chr12 39726856 39726856 T C rs145897823 KIF21A Synonymous SNV K811K 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Benign 4.963 98567 chr2 71582890 71582890 C T ZNF638 Synonymous SNV S453S 0.007 0 0 0 8 0 0 0 0 0 0 0 14.38 98568 chr2 71748013 71748013 G C DYSF Synonymous SNV L345L 0.006 0 0 0 7 0 0 0 0 0 0 0 7.597 98569 chr2 73452813 73452813 C T rs569292261 SMYD5 Nonsynonymous SNV R364C 0.009 0 0 1 10 0 0.003 0 0 0 0 0 35 98570 chr12 53443028 53443028 T C TNS2 Nonsynonymous SNV M34T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 98571 chr12 53455247 53455247 G A TNS2 Nonsynonymous SNV D1158N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 98572 chr15 82388054 82388054 G C rs59909209 LINC01583 0 0 0.024 0 0 0 0 7 0 0 0 0 0.424 98573 chr12 6934833 6934833 A G GPR162 Nonsynonymous SNV D67G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 98574 chr11 58379197 58379197 G A rs140688902 ZFP91 Synonymous SNV E280E 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.11 98575 chr3 14187482 14187482 T G rs3731177 XPC Nonsynonymous SNV K735Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 18.25 98576 chr3 12660099 12660099 C T rs145611571 RAF1 Nonsynonymous SNV R41Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 98577 chr12 6979217 6979217 A G rs781954607 TPI1 Nonsynonymous SNV Q183R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 98578 chr12 54756641 54756641 T C rs150704324 GPR84 Nonsynonymous SNV Y332C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.6 98579 chr3 13364920 13364920 C T rs557665079 NUP210 Nonsynonymous SNV V1553I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 98580 chr12 55863538 55863538 G A rs141132100 OR6C70 Nonsynonymous SNV R129C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 98581 chr3 19924172 19924172 C T rs149572350 EFHB Nonsynonymous SNV R733Q 0.019 0.023 0 2 22 9 0.005 0 0 1 0 0 27.3 98582 chr13 102568873 102568873 G A rs372705140 FGF14 Synonymous SNV N41N 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 8.745 98583 chr3 23952357 23952357 T A NKIRAS1 Nonsynonymous SNV L13F 0.003 0 0 0 3 0 0 0 0 0 0 0 14.73 98584 chr14 23821312 23821312 C T rs200344917 SLC22A17 Nonsynonymous SNV V38I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 98585 chr11 60559747 60559747 T G rs117830076 MS4A10 Nonsynonymous SNV S105A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.3 98586 chr2 95815453 95815453 G A rs140564139 ZNF514 Synonymous SNV P332P 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 12.12 98587 chr15 89876858 89876858 T C rs28567406 POLG Nonsynonymous SNV Q43R 0.006 0.01 0.007 3 7 4 0.008 2 0 0 0 0 Benign 0.001 98588 chr12 58152002 58152002 C T rs750370136 MARCHF9 Nonsynonymous SNV P209S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 98589 chr12 58209788 58209788 G A rs148769359 AVIL Synonymous SNV N12N 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 Benign 9.607 98590 chr11 798254 798254 C A rs191701026 PANO1 Nonsynonymous SNV P210Q 0.004 0 0.01 4 5 0 0.01 3 0 0 0 0 10.62 98591 chr11 61106765 61106765 G A rs144902033 TKFC Nonsynonymous SNV R115Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 98592 chr3 32031852 32031852 G A rs138977513 ZNF860 Synonymous SNV K427K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 2.052 98593 chr13 110830413 110830413 G C rs201964644 COL4A1 Nonsynonymous SNV P875R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 15.08 98594 chr11 61249804 61249804 G A rs142679977 PPP1R32 Nonsynonymous SNV R44H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.86 98595 chr15 90903618 90903618 G A rs116910054 ZNF774 Synonymous SNV G185G 0.01 0.01 0.031 10 12 4 0.026 9 0 0 2 1 6.626 98596 chr15 90996141 90996141 C T rs138811969 IQGAP1 Synonymous SNV L433L 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 13.56 98597 chr15 91795203 91795203 C G rs17693706 SV2B Synonymous SNV L51L 0.007 0.003 0.031 2 8 1 0.005 9 0 0 0 0 10.8 98598 chr3 38888878 38888878 C G rs41285131 SCN11A Synonymous SNV L1561L 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 7.355 98599 chr13 112722080 112722080 - GGC rs762213984 SOX1 G43_A44insG 0.006 0.003 0 0 7 1 0 0 0 0 0 0 98600 chr12 66531827 66531827 G A rs554625377 TMBIM4 Synonymous SNV Y179Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.84 98601 chr13 113745489 113745489 C T rs149763276 MCF2L Nonsynonymous SNV P965L 0.009 0.008 0.014 3 10 3 0.008 4 0 0 0 0 14.41 98602 chr2 105990155 105990155 G A rs199943518 FHL2 Synonymous SNV A64A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign/Likely benign 11.63 98603 chr12 95914962 95914962 T C rs144760209 USP44 Nonsynonymous SNV N584D 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 23.4 98604 chr11 6245464 6245464 C T rs775833000 FAM160A2 Synonymous SNV L51L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.63 98605 chr16 1004432 1004432 G A rs375529211 LMF1 Nonsynonymous SNV T34M 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 9.718 98606 chr3 39229097 39229097 C T rs201938681 XIRP1 Nonsynonymous SNV V614I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.91 98607 chr12 70925871 70925871 T C rs773958892 PTPRB Nonsynonymous SNV I1842V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 98608 chr2 112940369 112940369 C T rs147423265 FBLN7 Synonymous SNV D178D 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 10.32 98609 chr13 21732265 21732265 - AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGG SKA3 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 98610 chr3 42251498 42251498 G C rs73056517 TRAK1 Nonsynonymous SNV V588L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.19 98611 chr3 42448408 42448408 G T rs140304359 LYZL4 Synonymous SNV G74G 0.009 0.013 0.003 4 11 5 0.01 1 0 0 0 0 4.813 98612 chr12 54403342 54403342 G A rs749816109 HOXC8 Nonsynonymous SNV E92K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 98613 chr3 44496784 44496784 A G rs140697707 ZNF445 Synonymous SNV P86P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.736 98614 chr11 94758910 94758910 C T rs1960159 KDM4E Synonymous SNV I63I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.223 98615 chr11 64005114 64005114 C A VEGFB Nonsynonymous SNV P178T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.82 98616 chr16 1260082 1260082 G T rs200228767 CACNA1H Nonsynonymous SNV Q1264H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 22.4 98617 chr13 101759897 101759897 G A rs34513106 NALCN Synonymous SNV V811V 0.007 0.016 0.024 0 8 6 0 7 0 0 0 0 Benign 11.13 98618 chr16 1275217 1275217 C G rs138549150 TPSG1 Synonymous SNV L12L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.75 98619 chr11 64608115 64608115 G A CDC42BPG Synonymous SNV A114A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.703 98620 chr13 27847628 27847628 G A rs201948182 RASL11A Synonymous SNV G200G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.225 98621 chr13 28009909 28009909 T C rs140779666 MTIF3 Nonsynonymous SNV E247G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 98622 chr12 55846356 55846356 G A rs187562104 OR6C2 Nonsynonymous SNV R120H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 98623 chr16 1507737 1507737 G A rs117183989 CLCN7 Synonymous SNV S208S 0.012 0.018 0.017 4 14 7 0.01 5 0 0 0 0 Benign 13.94 98624 chr14 53619681 53619681 C T rs61985140 DDHD1 Nonsynonymous SNV G46S 0.018 0.01 0.003 5 21 4 0.013 1 1 0 0 0 Benign 11.1 98625 chr12 104025446 104025446 G A rs147053330 STAB2 Synonymous SNV A186A 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign 6.16 98626 chr13 32355826 32355826 A G RXFP2 Synonymous SNV R268R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 0.14 98627 chr14 55310515 55310515 C T rs777656278 GCH1 Synonymous SNV K233K 0.003 0 0 0 3 0 0 0 0 0 0 0 10.96 98628 chr3 46062672 46062672 G A rs200376617 XCR1 Synonymous SNV I256I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.061 98629 chr3 47918946 47918946 C T MAP4 Synonymous SNV P689P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 98630 chr13 32912750 32912750 G T rs28897727 BRCA2 Nonsynonymous SNV D1420Y 0.01 0.026 0.007 3 12 10 0.008 2 0 0 0 0 Benign 12.68 98631 chr12 56826166 56826166 A G TIMELESS Nonsynonymous SNV M224T 0.012 0.003 0 2 14 1 0.005 0 0 0 0 0 27.3 98632 chr2 136107587 136107587 A G rs199705117 ZRANB3 Synonymous SNV L186L 0.008 0 0 4 9 0 0.01 0 0 0 0 0 9.203 98633 chr12 107713535 107713535 G A rs776099215 BTBD11 Nonsynonymous SNV G273D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.82 98634 chr12 58016657 58016657 G C rs116864836 SLC26A10 Synonymous SNV V293V 0.016 0.026 0.01 2 19 10 0.005 3 1 0 0 0 9.04 98635 chr14 61924239 61924239 G A rs2230500 PRKCH Nonsynonymous SNV V374I 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 risk factor 12.88 98636 chr14 61924241 61924241 A C rs2230501 PRKCH Synonymous SNV V374V 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 1.237 98637 chr3 48229366 48229366 C A rs146179438 CDC25A Nonsynonymous SNV Q24H 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 Benign 13.11 98638 chr13 114138339 114138339 G T rs749970867 DCUN1D2 Synonymous SNV V12V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 11.14 98639 chr12 95478283 95478283 G A rs138002280 FGD6 Nonsynonymous SNV S1416L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 98640 chr14 64445645 64445645 G A rs117567094 SYNE2 Synonymous SNV L494L 0.007 0.005 0.024 7 8 2 0.018 7 0 0 0 0 Benign 10.48 98641 chr11 66359489 66359489 C T rs150996648 CCDC87 Nonsynonymous SNV R333H 0.01 0.013 0.02 5 12 5 0.013 6 0 0 0 0 18.72 98642 chr16 2230629 2230629 C T CASKIN1 Nonsynonymous SNV V914M 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 98643 chr16 2287649 2287649 A C rs62621282 DNASE1L2 Nonsynonymous SNV D197A 0 0.003 0.01 0 0 1 0 3 0 0 0 0 24.2 98644 chr16 23080435 23080435 G A rs115182011 USP31 Synonymous SNV S997S 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 10.14 98645 chr16 2313135 2313137 AGA - rs375495117 RNPS1 S104del 0 0 0.01 0 0 0 0 3 0 0 0 0 98646 chr3 55922561 55922561 T G rs61745935 ERC2 Nonsynonymous SNV N805T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.54 98647 chr16 23635370 23635370 C T rs45624036 PALB2 Nonsynonymous SNV V932M 0.002 0.003 0.007 1 2 1 0.003 2 1 0 0 0 Benign/Likely benign 26.6 98648 chr12 112130590 112130590 G A rs371322419 ACAD10 Nonsynonymous SNV R26H 0 0 0 2 0 0 0.005 0 0 0 0 0 16.01 98649 chr16 23713763 23713763 A T rs140521756 ERN2 Synonymous SNV A343A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.03 98650 chr16 2376111 2376111 C T rs565051776 ABCA3 Synonymous SNV P73P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.67 98651 chr12 6705204 6705204 G A rs116849726 CHD4 Synonymous SNV Y657Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.258 98652 chr16 24788402 24788404 GCA - rs757317434 TNRC6A Q108del 0 0 0.007 0 0 0 0 2 0 0 0 0 98653 chr11 68115544 68115544 G A LRP5 Synonymous SNV L107L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.594 98654 chr13 103515193 103515193 A G rs370456073 BIVM-ERCC5, ERCC5 Nonsynonymous SNV D565G 0.007 0.005 0 0 8 2 0 0 0 0 0 0 22.3 98655 chr12 113837452 113837452 T G rs139795134 SDS Nonsynonymous SNV K21T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.5 98656 chr13 28143388 28143388 C T rs61751716 LNX2 Nonsynonymous SNV V145I 0.005 0.01 0 5 6 4 0.013 0 0 0 0 0 21.1 98657 chr3 58092451 58092451 G T FLNB Nonsynonymous SNV D598Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 98658 chr3 51672190 51672190 C T rs147665933 RAD54L2 Synonymous SNV L571L 0.006 0 0 3 7 0 0.008 0 0 0 0 0 17.09 98659 chr3 51747288 51747288 G A rs116567227 GRM2 Nonsynonymous SNV R39H 0.006 0 0 3 7 0 0.008 0 0 0 0 0 25.6 98660 chr16 2814403 2814403 T G rs148506290 SRRM2 Nonsynonymous SNV S1292A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 98661 chr12 6958272 6958272 G A CDCA3 Stop gain R223X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 98662 chr12 118474229 118474229 G A rs147184268 WSB2 Synonymous SNV P39P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.46 98663 chr16 2905846 2905846 C T rs781708677 PRSS22 Synonymous SNV L96L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.632 98664 chr12 120150403 120150403 G A rs372311430 CIT Synonymous SNV A1517A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 8.311 98665 chr12 120151501 120151501 G A rs74614893 MIR1178 0.009 0.013 0.027 10 11 5 0.026 8 0 0 0 0 1.665 98666 chr12 120156162 120156162 C T rs140364771 CIT Synonymous SNV A1310A 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Likely benign 19.21 98667 chr11 69933948 69933948 G A ANO1 Nonsynonymous SNV V67M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 98668 chr11 69949261 69949261 G A rs776538381 ANO1 Synonymous SNV P177P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.805 98669 chr16 2987278 2987278 G A rs202221080 FLYWCH1 Nonsynonymous SNV R557Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 98670 chr12 72058337 72058337 G A rs35288257 THAP2 Synonymous SNV K16K 0.01 0.008 0.01 5 12 3 0.013 3 0 0 0 0 12.6 98671 chr11 70281196 70281196 C T rs772572367 CTTN Synonymous SNV D490D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.288 98672 chr3 69928509 69928509 C T rs190215588 MITF Nonsynonymous SNV T58M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 23.1 98673 chr3 78737846 78737846 T C rs754121418 ROBO1 Synonymous SNV A338A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.247 98674 chr13 33629220 33629220 C T KL Nonsynonymous SNV T456I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.6 98675 chr2 170338809 170338809 C T rs16823066 BBS5 Synonymous SNV S36S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 11.77 98676 chr16 3097538 3097538 C T rs7198055 MMP25 Synonymous SNV T74T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.356 98677 chr16 3108229 3108229 C A rs59807543 MMP25 Synonymous SNV R352R 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 15.07 98678 chr13 114098752 114098752 A G rs759648461 ADPRHL1 Nonsynonymous SNV F123L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 98679 chr3 97662117 97662117 G A CRYBG3 Nonsynonymous SNV E2958K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.2 98680 chr14 101005131 101005131 G A rs142511766 BEGAIN Synonymous SNV T319T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 8.563 98681 chr16 31384648 31384648 C T rs12448775 ITGAX Synonymous SNV Y815Y 0.016 0.023 0.027 3 19 9 0.008 8 0 0 0 0 8.358 98682 chr13 39585591 39585591 C A rs73169461 PROSER1 Nonsynonymous SNV A894S 0.011 0.01 0.014 5 13 4 0.013 4 0 0 0 0 13.2 98683 chr12 80665473 80665473 C T rs183159689 OTOGL Nonsynonymous SNV P846L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 25.4 98684 chr13 114502342 114502342 C T rs373271717 TMEM255B Stop gain Q125X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 98685 chr16 3142819 3142819 G A ZSCAN10 Synonymous SNV P40P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.12 98686 chr12 80696419 80696419 A G rs144125797 OTOGL Synonymous SNV Q1014Q 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.027 98687 chr12 80699397 80699397 T C rs138823379 OTOGL Synonymous SNV T1076T 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.426 98688 chr12 80704413 80704413 T C rs150426222 OTOGL Nonsynonymous SNV I1110T 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.05 98689 chr2 172379104 172379104 C T CYBRD1 Synonymous SNV L17L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.47 98690 chr12 80722481 80722481 G A rs369887464 OTOGL Nonsynonymous SNV M1403I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 98691 chr12 123466293 123466295 GAA - rs745875699 ARL6IP4 K293del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 98692 chr13 19753484 19753484 C G rs36215077 TUBA3C Nonsynonymous SNV V75L 0.006 0.005 0.003 2 7 2 0.005 1 1 0 0 0 12.72 98693 chr13 41894867 41894867 C T rs118100582 NAA16 Synonymous SNV Y103Y 0 0.005 0 7 0 2 0.018 0 0 0 0 0 11.68 98694 chr2 174074427 174074427 G A rs200127848 MAP3K20-AS1 0.007 0.008 0 0 8 3 0 0 0 0 0 0 0.134 98695 chr16 335530 335530 G T rs145351921 PDIA2 Nonsynonymous SNV A316S 0.015 0.013 0.003 7 18 5 0.018 1 0 0 0 0 0.07 98696 chr12 80764360 80764360 C T rs146572555 OTOGL Nonsynonymous SNV T2200I 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 Benign/Likely benign 15.19 98697 chr13 42876091 42876091 A G rs17063163 AKAP11 Nonsynonymous SNV H1070R 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign 13.14 98698 chr2 176995115 176995115 C T rs762844541 HOXD8 Synonymous SNV N7N 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 10.72 98699 chr14 88938658 88938658 T A PTPN21 Nonsynonymous SNV D934V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 98700 chr16 3573261 3573261 C T rs751218423 CLUAP1 Nonsynonymous SNV L107F 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 23.3 98701 chr12 80935439 80935439 A G rs35189291 PTPRQ Nonsynonymous SNV Y915C 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 23.7 98702 chr14 91671132 91671132 C T rs147127627 DGLUCY Synonymous SNV I509I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.31 98703 chr12 81647413 81647413 A G ACSS3 Synonymous SNV S652S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.004 98704 chr14 91779704 91779704 T C rs61743881 CCDC88C Nonsynonymous SNV D819G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 98705 chr2 179296971 179296971 G A rs150679361 PRKRA Synonymous SNV S254S 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 Benign 14.54 98706 chr3 64627625 64627625 G A rs375921755 ADAMTS9 Synonymous SNV P557P 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 10.91 98707 chr3 101476027 101476027 A G rs373790394 CEP97 Nonsynonymous SNV I338M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.2 98708 chr2 179430586 179430586 A G TTN Nonsynonymous SNV M17693T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 13.17 98709 chr13 25399796 25399796 G A rs138535870 RNF17 Nonsynonymous SNV E711K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 98710 chr16 4606743 4606743 G C rs17137138 C16orf96 Nonsynonymous SNV V85L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 98711 chr16 4650134 4650134 C T rs371582107 C16orf96 Nonsynonymous SNV A1081V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 98712 chr13 25744319 25744319 T A rs374246859 AMER2 Nonsynonymous SNV E480V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 98713 chr14 105201447 105201447 G A rs554970016 ADSS1 Nonsynonymous SNV V95M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.08 98714 chr3 73657832 73657832 C T rs150437956 PDZRN3 Nonsynonymous SNV E243K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 98715 chr11 7846703 7846703 C T rs762249583 OR5P3 Nonsynonymous SNV V273M 0.002 0.005 0.007 4 2 2 0.01 2 0 0 0 0 23.5 98716 chr13 29933583 29933583 C T rs112264341 MTUS2 Synonymous SNV A1030A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.35 98717 chr13 31233475 31233475 T G USPL1 Stop gain Y758X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 98718 chr14 105965194 105965194 C T rs150700739 TEDC1 Nonsynonymous SNV R365C 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 12.49 98719 chr2 179606590 179606590 T C rs72648918 TTN Synonymous SNV Q3427Q 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 Benign/Likely benign 0.002 98720 chr14 96157206 96157206 C T rs117333381 TCL1B Nonsynonymous SNV A99V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 18.76 98721 chr11 836406 836406 C T rs34726520 CD151 Synonymous SNV C80C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Benign 8.331 98722 chr13 35782874 35782874 A T rs370712135 NBEA Nonsynonymous SNV S1802C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 25.1 98723 chr13 37441435 37441435 A G rs146836873 SMAD9 Synonymous SNV H252H 0.011 0.018 0.014 4 13 7 0.01 4 0 0 0 0 Benign/Likely benign 0.008 98724 chr12 99139552 99139552 C T rs752252888 ANKS1B Nonsynonymous SNV G181S 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 Likely benign 14.66 98725 chr16 56904130 56904130 G T rs144493396 SLC12A3 Nonsynonymous SNV V242L 0 0 0.007 0 0 0 0 2 0 0 0 0 18.1 98726 chr15 100943044 100943044 G A rs116101674 CERS3 Synonymous SNV D342D 0.013 0.008 0.014 2 15 3 0.005 4 0 0 0 0 2.034 98727 chr11 86518714 86518714 T G rs143513117 PRSS23 Nonsynonymous SNV L10R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.08 98728 chr12 133331401 133331401 T C ANKLE2 Nonsynonymous SNV E167G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 98729 chr3 109031471 109031471 G C DPPA2 Nonsynonymous SNV D34E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 98730 chr3 111603212 111603212 T C rs147109951 PHLDB2 Synonymous SNV Y96Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.037 98731 chr13 42761244 42761244 C A rs147914294 DGKH Nonsynonymous SNV T288N 0.002 0.01 0.003 5 2 4 0.013 1 0 0 0 0 8.008 98732 chr11 89883726 89883726 C T rs77745866 NAALAD2 Nonsynonymous SNV T187I 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 28 98733 chr11 89896764 89896764 G A rs74700037 NAALAD2 Synonymous SNV L386L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 11.26 98734 chr13 43930151 43930151 G A rs973800588 ENOX1 Nonsynonymous SNV R278C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 98735 chr15 25947096 25947096 G A rs114528601 ATP10A Synonymous SNV D909D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 3.506 98736 chr15 25971153 25971153 G A rs116375025 ATP10A Synonymous SNV C308C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.74 98737 chr3 112993338 112993338 C A rs202102976 BOC Nonsynonymous SNV P451T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.405 98738 chr12 15776223 15776223 - A rs35885542 EPS8 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 98739 chr16 66948296 66948296 G A rs191736920 CDH16 Synonymous SNV H201H 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 0.296 98740 chr2 187626632 187626632 G A rs75100182 FAM171B Synonymous SNV A521A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 0.881 98741 chr16 67684045 67684045 T G rs201190819 CARMIL2 Nonsynonymous SNV S726A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 98742 chr16 67876797 67876814 CAGCAGCAACAGCAGCAG - rs749053848 THAP11 Q127_Q132del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 98743 chr16 67963944 67963944 C T rs774504385 CTRL Nonsynonymous SNV G230S 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 32 98744 chr14 23103544 23103544 A G rs80323992 OR6J1 Nonsynonymous SNV M58T 0.039 0.044 0.031 14 46 17 0.036 9 2 0 1 0 24.7 98745 chr13 48619855 48619855 C T rs116855232 NUDT15 Nonsynonymous SNV R139C 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 drug response 22.2 98746 chr13 111870226 111870226 C T rs41275140 ARHGEF7 Synonymous SNV S66S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 12.06 98747 chr16 70187372 70187372 C T rs199923910 PDPR Nonsynonymous SNV R611C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 98748 chr11 94602475 94602475 C T rs147218652 AMOTL1 Synonymous SNV H817H 0.002 0.01 0 0 2 4 0 0 0 0 0 0 17.02 98749 chr16 70711719 70711719 G T rs377250710 MTSS2 Nonsynonymous SNV H236Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 98750 chr13 114507886 114507886 C T rs139045071 TMEM255B Nonsynonymous SNV P233L 0.012 0.005 0.007 5 14 2 0.013 2 0 0 0 0 17.6 98751 chr12 23887678 23887678 T C rs144824530 SOX5 Synonymous SNV R240R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 6.291 98752 chr3 120123764 120123764 C T FSTL1 Nonsynonymous SNV E173K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 98753 chr2 197629392 197629392 C T rs143704960 GTF3C3 Synonymous SNV Q852Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.41 98754 chr13 53617247 53617247 A G rs199556573 OLFM4 Nonsynonymous SNV N193S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 98755 chr14 105361058 105361058 C T rs117314899 CEP170B Synonymous SNV A1441A 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 11.72 98756 chr12 25699316 25699316 A G rs143922642 LMNTD1 Synonymous SNV F77F 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 0.541 98757 chr13 21746533 21746533 T C rs569818567 SKA3 Synonymous SNV K92K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.398 98758 chr14 24620708 24620708 G T rs184184005 RNF31 Nonsynonymous SNV Q433H 0.016 0.021 0 3 19 8 0.008 0 0 0 0 0 6.223 98759 chr13 95363617 95363617 C G rs6492735 SOX21 Synonymous SNV P229P 0.02 0.029 0.058 8 24 11 0.021 17 9 4 5 3 9.279 98760 chr16 75270885 75270885 T G rs150912813 BCAR1 Synonymous SNV T59T 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 1.222 98761 chr13 25281262 25281262 C T rs370608869 ATP12A Synonymous SNV A763A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.3 98762 chr13 25376643 25376643 C T rs150256939 RNF17 Nonsynonymous SNV P628L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.2 98763 chr2 203972634 203972634 C T rs758060116 NBEAL1 Nonsynonymous SNV R529C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 98764 chr12 103696070 103696070 T C C12orf42 Nonsynonymous SNV D300G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.4 98765 chr14 31388312 31388312 C T rs143046858 STRN3 Nonsynonymous SNV R367K 0.02 0.023 0.003 4 23 9 0.01 1 0 0 0 0 23.2 98766 chr14 31495238 31495238 C T rs762081364 STRN3 Nonsynonymous SNV A52T 0.016 0.023 0 4 19 9 0.01 0 0 0 0 0 21.1 98767 chr3 123385184 123385184 G - MYLK P1062Lfs*24 0 0 0 1 0 0 0.003 0 0 0 0 0 98768 chr16 77331248 77331248 G A rs756355965 ADAMTS18 Synonymous SNV C741C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.39 98769 chr14 33014489 33014489 A G AKAP6 Synonymous SNV K210K 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.245 98770 chr12 32137067 32137067 A G rs78737813 RESF1 Nonsynonymous SNV K1060E 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 23.3 98771 chr15 42160649 42160649 C T rs761668409 SPTBN5 Nonsynonymous SNV A2002T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 98772 chr15 42169055 42169055 C T rs200671932 SPTBN5 Nonsynonymous SNV R1268Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.072 98773 chr3 132403418 132403418 C T rs34391943 NPHP3 Nonsynonymous SNV A1184T 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 98774 chr14 39717265 39717265 A G rs149735010 MIA2 Nonsynonymous SNV E496G 0.004 0.008 0 0 5 3 0 0 0 0 0 0 23.2 98775 chr12 108008888 108008888 T C rs745986955 BTBD11 Synonymous SNV H187H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.863 98776 chr12 108634248 108634248 C G rs372334494 WSCD2 Synonymous SNV A424A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.44 98777 chr13 32352714 32352714 A G rs73163317 RXFP2 Nonsynonymous SNV N260S 0.009 0.013 0.007 2 10 5 0.005 2 0 0 0 0 12.27 98778 chr14 104640635 104640635 G A rs769589422 KIF26A Synonymous SNV R727R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.95 98779 chr16 84493953 84493953 - GGG rs35446600 ATP2C2-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 98780 chr12 109719293 109719293 C T FOXN4 Nonsynonymous SNV V405I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.128 98781 chr3 140140031 140140031 C T rs150010064 CLSTN2 Synonymous SNV T234T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.61 98782 chr13 37600357 37600357 T C SUPT20H Nonsynonymous SNV K399E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 98783 chr16 84911093 84911093 A G rs35049212 CRISPLD2 Synonymous SNV E402E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 6.857 98784 chr2 216964800 216964800 G A rs148862207 TMEM169 Synonymous SNV T143T 0.003 0 0 0 4 0 0 0 0 0 0 0 1.81 98785 chr16 85722496 85722496 A C rs80063963 GINS2 Synonymous SNV A3A 0.005 0.003 0.007 0 6 1 0 2 1 0 0 0 0.035 98786 chr2 217543633 217543633 G A rs11575195 IGFBP5 Synonymous SNV A169A 0.03 0.005 0.034 13 35 2 0.033 10 0 0 0 1 12.39 98787 chr14 105685490 105685491 CT - rs778434804 BRF1 R248Gfs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 98788 chr14 105927272 105927272 G C rs140464955 MTA1 Synonymous SNV T308T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 11.39 98789 chr15 49284842 49284842 G T rs146594630 SECISBP2L Synonymous SNV R924R 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 11.13 98790 chr2 220075000 220075000 G C rs771803840 ABCB6 Nonsynonymous SNV A745G 0.003 0 0 0 3 0 0 0 0 0 0 0 32 98791 chr15 51773227 51773227 C T DMXL2 Nonsynonymous SNV E1390K 0.004 0 0 0 5 0 0 0 0 0 0 0 21.1 98792 chr12 113388513 113388513 C G OAS3 Nonsynonymous SNV R464G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 98793 chr12 49690142 49690142 A G rs558704057 LOC101927267 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 5.764 98794 chr13 46541962 46541962 C T rs75503329 ZC3H13 Nonsynonymous SNV R1333H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 98795 chr12 113444353 113444353 G A rs200885734 OAS2 Nonsynonymous SNV R535Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 21.7 98796 chr13 46638856 46638856 G A CPB2 Synonymous SNV N204N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.707 98797 chr16 88800373 88800378 TCCTCC - rs773891670 PIEZO1 E755_E756del 0 0 0.007 0 0 0 0 2 0 0 0 0 98798 chr14 60485900 60485900 A C rs759189737 LRRC9 Nonsynonymous SNV H1163P 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 25.2 98799 chr12 118020136 118020136 C T rs56376229 KSR2 Synonymous SNV P400P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.24 98800 chr3 138341250 138341250 T C FAIM Nonsynonymous SNV I111T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 98801 chr14 20927859 20927859 G A rs200775469 PIP4P1 Synonymous SNV P165P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 98802 chr3 142048450 142048450 A G rs115294670 XRN1 Synonymous SNV Y1410Y 0.009 0.008 0 5 10 3 0.013 0 0 0 0 0 Benign 0.032 98803 chr14 64416608 64416608 G C rs146337424 SYNE2 Synonymous SNV V158V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.169 98804 chr15 60745776 60745776 T C rs758684090 ICE2 Synonymous SNV X384X 0.002 0 0 0 2 0 0 0 0 0 0 0 1.601 98805 chr2 220505588 220505588 G A rs758735182 SLC4A3 Synonymous SNV T1202T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.9 98806 chr13 61987906 61987906 G T rs201988540 PCDH20 Nonsynonymous SNV T109N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.309 98807 chr3 164908342 164908342 A G rs764746699 SLITRK3 Nonsynonymous SNV Y93H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 98808 chr16 8948898 8948898 T G rs6899 LOC100130283 0 0 0.065 0 0 0 0 19 0 0 0 0 13.91 98809 chr12 121878774 121878774 C T KDM2B Nonsynonymous SNV R1083Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 98810 chr2 227661921 227661921 C G rs1801276 IRS1 Nonsynonymous SNV A512P 0.009 0.003 0.007 7 10 1 0.018 2 0 0 0 0 Benign 0.535 98811 chr15 64221827 64221827 C T rs372850066 LOC101928988 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 6.211 98812 chr14 65253450 65253450 G A rs200926839 SPTB Nonsynonymous SNV S1078F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.605 98813 chr13 86368741 86368741 G A rs201449316 SLITRK6 Nonsynonymous SNV R635C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.5 98814 chr14 68157110 68157110 T C rs199515291 RDH11 Synonymous SNV L161L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.556 98815 chr12 123829815 123829815 T G SBNO1 Synonymous SNV A180A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.174 98816 chr3 178916931 178916931 C A rs201193059 PIK3CA Synonymous SNV G106G 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign/Likely benign 10.59 98817 chr14 23345227 23345227 C T LRP10 Nonsynonymous SNV P357L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 98818 chr17 13446924 13446924 G A rs9913045 MIR548H3 0 0 0.146 0 0 0 0 43 0 0 10 0 3.203 98819 chr17 1359232 1359232 G A rs141635865 CRK Synonymous SNV Y60Y 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Benign 4.046 98820 chr3 179408054 179408054 C T rs61760203 USP13 Nonsynonymous SNV A107V 0.016 0.029 0.024 3 19 11 0.008 7 0 0 0 0 23.3 98821 chr15 66793310 66793310 G A rs73471768 RPL4 Synonymous SNV A270A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.36 98822 chr13 99537338 99537338 A C rs200500566 DOCK9 Nonsynonymous SNV S758A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Likely benign 10.23 98823 chr12 52946825 52946825 C T rs74095123 KRT71 Nonsynonymous SNV A13T 0.006 0.01 0.007 6 7 4 0.015 2 0 0 0 1 0.001 98824 chr14 100331974 100331974 C T rs751958406 EML1 Nonsynonymous SNV A125V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.49 98825 chr2 231149074 231149074 G A rs201215221 SP140 Synonymous SNV G390G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 4.658 98826 chr3 183217463 183217463 C T rs35625070 KLHL6 Synonymous SNV P354P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 98827 chr17 15878344 15878344 G C ADORA2B Nonsynonymous SNV E229D 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 98828 chr17 15976868 15976868 C T rs139458532 NCOR1 Nonsynonymous SNV R1245Q 0 0 0.007 0 0 0 0 2 0 0 0 0 32 98829 chr3 183524926 183524926 G A rs116267615 YEATS2-AS1 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 4.537 98830 chr17 16344890 16344890 - T rs71353801 SNHG29 0 0 0.031 0 0 0 0 9 0 0 0 0 98831 chr3 184025713 184025713 C T rs34778649 PSMD2 Synonymous SNV L648L 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 12.49 98832 chr12 53242412 53242412 A T rs143030733 KRT78 Nonsynonymous SNV D101E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.6 98833 chr14 74514717 74514717 C T rs114681409 BBOF1 Synonymous SNV D244D 0.022 0.016 0.014 5 26 6 0.013 4 0 0 0 0 12.83 98834 chr14 74516530 74516530 T G rs139139753 BBOF1 Nonsynonymous SNV F306L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 98835 chr14 56755275 56755275 G A PELI2 Nonsynonymous SNV V144M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 98836 chr14 102916165 102916165 C T rs72700618 TECPR2 Nonsynonymous SNV S1092L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 28 98837 chr14 74538612 74538612 T C rs4899491 ALDH6A1 Synonymous SNV V125V 0.025 0.016 0.014 5 29 6 0.013 4 0 0 0 0 Benign/Likely benign 11.49 98838 chr2 234581080 234581080 T C rs151238339 UGT1A9 Nonsynonymous SNV V167A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 4.487 98839 chr14 31344166 31344166 G A rs200935305 COCH Nonsynonymous SNV A8T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.961 98840 chr17 19568270 19568270 C T rs372095991 ALDH3A2 Nonsynonymous SNV R373W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 98841 chr17 19609977 19609977 G A rs769978997 SLC47A2 Synonymous SNV I275I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.942 98842 chr12 54448817 54448817 G A HOXC4 Nonsynonymous SNV R208H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 28.6 98843 chr12 54967241 54967241 C T rs150688398 PDE1B Synonymous SNV I109I 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 14.18 98844 chr14 61442203 61442203 G C rs139967296 TRMT5 Synonymous SNV T506T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.004 98845 chr14 61747137 61747137 G T rs201969653 TMEM30B Synonymous SNV T243T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.86 98846 chr3 193080213 193080213 G A rs547207278 ATP13A5 Stop gain Q165X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 37 98847 chr12 55615288 55615288 A G OR10A7 Synonymous SNV T160T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.099 98848 chr14 39783985 39783985 T G rs118177774 MIA2 Nonsynonymous SNV I366M 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 23.1 98849 chr3 194080759 194080759 G A rs73081783 LRRC15 Synonymous SNV N338N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.213 98850 chr3 186944257 186944257 G A rs551848961 MASP1 Nonsynonymous SNV P498L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.275 98851 chr3 194081251 194081251 T G rs115927352 LRRC15 Synonymous SNV G174G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 98852 chr12 14839149 14839149 C T rs56275235 GUCY2C Nonsynonymous SNV R114Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 0.373 98853 chr14 65220374 65220374 G A rs143820600 SPTB Synonymous SNV S2161S 0.001 0.008 0.007 1 1 3 0.003 2 0 0 0 0 8.405 98854 chr14 65249153 65249153 T C rs10132778 SPTB Nonsynonymous SNV H1374R 0.029 0.031 0.027 12 34 12 0.031 8 2 0 0 0 Benign/Likely benign 0.001 98855 chr14 65262076 65262076 G A rs778772287 SPTB Synonymous SNV I541I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.657 98856 chr15 84683428 84683428 A G rs17158450 ADAMTSL3 Nonsynonymous SNV T1370A 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 11.53 98857 chr14 67787816 67787816 A T MPP5 Nonsynonymous SNV D493V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.1 98858 chr12 56487184 56487184 C T rs771935902 ERBB3 Stop gain R444X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 39 98859 chr12 56558397 56558397 C T rs75924441 SMARCC2 Synonymous SNV P1086P 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 16.04 98860 chr14 52520302 52520302 G A rs137941862 NID2 Nonsynonymous SNV T475I 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Benign 13.66 98861 chr12 57109669 57109669 G C rs530299780 NACA Nonsynonymous SNV T1882R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.43 98862 chr12 57110000 57110000 G A rs183828032 NACA Nonsynonymous SNV P1772S 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 Benign 12.54 98863 chr12 2061874 2061874 G C rs145623669 DCP1B Nonsynonymous SNV S411C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 98864 chr14 69920011 69920011 G A rs77585484 SLC39A9 Nonsynonymous SNV V87I 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 26.9 98865 chr14 94404116 94404116 C G ASB2 Nonsynonymous SNV V519L 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 33 98866 chr17 26926160 26926160 C A rs118071028 SPAG5-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 12.36 98867 chr12 21196423 21196423 T A rs745447861 SLCO1B7 Nonsynonymous SNV F248I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.379 98868 chr15 89182693 89182693 C T rs61733732 ISG20 Synonymous SNV N32N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 13.28 98869 chr17 27893566 27893566 A - rs201971667 ABHD15 V140Gfs*2 0.001 0 0.007 0 1 0 0 2 0 0 0 0 98870 chr12 22688209 22688212 CCGA - C2CD5 E54Gfs*70 0 0.003 0 0 0 1 0 0 0 0 0 0 98871 chr17 30469423 30469423 C A rs13342625 LOC105371730 0 0 0.095 0 0 0 0 28 0 0 2 0 21.3 98872 chr12 26218098 26218098 A G rs377439827 RASSF8 Synonymous SNV K257K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.254 98873 chr17 30469471 30469485 CCGCCGCCGCCGCCG - rs560388277 LOC105371730 0 0 0.041 0 0 0 0 12 0 0 4 0 98874 chr14 74189484 74189484 C A rs754529421 ELMSAN1 Nonsynonymous SNV G881C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 98875 chr15 89862304 89862304 A G rs150233690 POLG Nonsynonymous SNV V1044A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.6 98876 chr15 89876722 89876722 G A rs144439703 POLG Synonymous SNV F88F 0.003 0 0.017 2 3 0 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 13.4 98877 chr14 74401007 74401007 C T rs761304501 FAM161B Synonymous SNV L632L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 98878 chr17 3213690 3213690 T C rs61734050 OR3A4P 0 0 0.054 0 0 0 0 16 0 0 0 0 7.822 98879 chr15 90167030 90167030 C T rs372423397 TICRR Synonymous SNV P1162P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 98880 chr14 60976290 60976290 C T rs201838922 SIX6 Synonymous SNV A58A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.18 98881 chr4 985255 985255 G A rs545673927 SLC26A1 Synonymous SNV I79I 0.003 0 0 0 3 0 0 0 0 0 0 0 5.307 98882 chr14 21992326 21992326 C G rs139561548 SALL2 Synonymous SNV V510V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 7.171 98883 chr14 74823687 74823687 A G VRTN Synonymous SNV P67P 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.002 98884 chr4 520844 520844 G A rs142598041 PIGG Nonsynonymous SNV E563K 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 Uncertain significance 17.48 98885 chr3 4878595 4878595 C A rs73098087 ITPR1 Synonymous SNV G2659G 0.016 0.013 0.01 5 19 5 0.013 3 0 0 0 0 Benign 15.28 98886 chr15 90763083 90763083 C T rs753208575 SEMA4B Nonsynonymous SNV P71S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 98887 chr15 102224292 102224292 A - TARS3 C546Afs*10 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 98888 chr17 33881770 33881773 AAAA - rs765554626 LOC107985033 0.009 0.01 0.044 6 10 4 0.015 13 5 2 1 3 98889 chr17 33900695 33900695 A G rs114393730 SNORD7 0 0 0.01 0 0 0 0 3 0 0 0 0 13.89 98890 chr14 64494487 64494487 C T rs138272705 SYNE2 Synonymous SNV H2230H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 14.71 98891 chr4 3076607 3076609 CAG - HTT Q38del 0.026 0.018 0 9 31 7 0.023 0 0 0 0 0 98892 chr12 31820830 31820830 A T ETFBKMT Nonsynonymous SNV H232L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.062 98893 chr15 91016093 91016093 G A IQGAP1 Nonsynonymous SNV A734T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 98894 chr12 6672284 6672284 G T NOP2 Nonsynonymous SNV T310N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 98895 chr14 23944456 23944456 A G rs199643781 NGDN Nonsynonymous SNV K74R 0.004 0 0 0 5 0 0 0 0 0 0 0 28.1 98896 chr12 68645295 68645295 T C rs138190698 IL22 Nonsynonymous SNV K154E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.394 98897 chr15 31282983 31282983 G A rs777764285 MTMR10 Nonsynonymous SNV P40S 0.006 0.008 0 0 7 3 0 0 0 0 0 0 21.1 98898 chr15 31779714 31779714 C T rs375535007 OTUD7A Synonymous SNV V402V 0.008 0.008 0 0 9 3 0 0 0 0 0 0 12.59 98899 chr14 24651181 24651181 A G rs182650449 IPO4 Synonymous SNV H929H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.284 98900 chr17 3629345 3629345 A G rs56134695 HASPIN Nonsynonymous SNV M706V 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 1.197 98901 chr12 7045136 7045136 A C rs200232074 ATN1 Nonsynonymous SNV K236Q 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 0.002 98902 chr12 7045894 7045894 - CAG ATN1 Q502_H503insQ 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 98903 chr14 66096286 66096286 C A rs376707676 FUT8 Nonsynonymous SNV L24M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 98904 chr14 68029286 68029286 C T rs200665235 PLEKHH1 Nonsynonymous SNV P313L 0.012 0.005 0.003 1 14 2 0.003 1 0 0 0 0 24.3 98905 chr14 24898556 24898556 G C rs2273633 KHNYN Nonsynonymous SNV G17R 0.01 0.018 0.02 1 12 7 0.003 6 0 1 0 0 9.267 98906 chr14 91700845 91700845 C T rs761659360 GPR68 Nonsynonymous SNV A184T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 98907 chr12 4553382 4553382 C T rs746672335 FGF6 Nonsynonymous SNV V123M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 98908 chr17 38031648 38031648 A G rs115778431 ZPBP2 Nonsynonymous SNV K262E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 23.8 98909 chr12 77158072 77158072 A G rs562629778 ZDHHC17 Nonsynonymous SNV D9G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 98910 chr14 33015531 33015531 A G rs35210906 AKAP6 Nonsynonymous SNV N558D 0.012 0.005 0 0 14 2 0 0 0 0 0 0 Benign 0.002 98911 chr14 73726020 73726020 C T rs140626278 PAPLN Synonymous SNV A584A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.23 98912 chr14 34247747 34247747 C T rs147070037 NPAS3 Synonymous SNV D344D 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 16.09 98913 chr16 1395850 1395850 G A BAIAP3 Nonsynonymous SNV D687N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 98914 chr17 39092735 39092735 C A rs34861030 KRT23 Nonsynonymous SNV A41S 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 0.002 98915 chr17 39116603 39116603 G T rs17843023 KRT39 Nonsynonymous SNV L383M 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 24.9 98916 chr12 80838175 80838175 C T rs60216135 PTPRQ Nonsynonymous SNV T17I 0.009 0.005 0.017 5 11 2 0.013 5 0 0 1 0 Benign 12.32 98917 chr12 80838564 80838564 C T rs78857302 PTPRQ Nonsynonymous SNV T33I 0.009 0.005 0.014 4 10 2 0.01 4 0 0 0 0 Benign 24 98918 chr14 95679692 95679692 G C rs148836979 CLMN Nonsynonymous SNV P158A 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 23.9 98919 chr3 27326114 27326114 C G NEK10 Nonsynonymous SNV D665H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 98920 chr12 49434915 49434915 C T rs368767696 KMT2D Nonsynonymous SNV G2213D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.84 98921 chr15 41067253 41067253 G A rs61763052 DNAJC17 Synonymous SNV D192D 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 11.98 98922 chr4 8394145 8394145 C T rs140347834 ACOX3 Synonymous SNV S405S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.59 98923 chr15 41102166 41102166 C T rs190799376 ZFYVE19 Nonsynonymous SNV P190L 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 31 98924 chr4 15689162 15689162 G A rs895858092 FAM200B Nonsynonymous SNV A188T 0.007 0 0 0 8 0 0 0 0 0 0 0 25.2 98925 chr17 39406291 39406291 T C rs199605390 KRTAP9-4 Nonsynonymous SNV Y107H 0.003 0.005 0.065 0 4 2 0 19 0 0 0 0 0.002 98926 chr14 50655307 50655307 C T rs61755579 SOS2 Nonsynonymous SNV A208T 0.017 0.018 0.007 6 20 7 0.015 2 1 0 0 0 Benign 23 98927 chr15 42028820 42028820 A G rs2695167 MGA Nonsynonymous SNV Y1453C 0.013 0.018 0 4 15 7 0.01 0 1 0 0 0 Benign 22.2 98928 chr14 50655357 50655357 G C rs72681869 SOS2 Nonsynonymous SNV P191R 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 Benign/Likely benign 23.4 98929 chr4 10089539 10089539 T C rs41268387 WDR1 Nonsynonymous SNV H108R 0.012 0.013 0.007 9 14 5 0.023 2 0 0 0 0 6.351 98930 chr14 50735947 50735947 T C rs72683923 L2HGDH Synonymous SNV P280P 0.012 0.016 0.003 1 14 6 0.003 1 1 0 0 0 Benign/Likely benign 10.51 98931 chr15 42041803 42041803 G T rs376635271 MGA Nonsynonymous SNV A1791S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.157 98932 chr14 79432735 79432735 C T rs749622842 NRXN3 Synonymous SNV V548V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 98933 chr15 101569417 101569417 C T rs41478246 LRRK1 Synonymous SNV A981A 0.019 0.039 0.01 6 22 15 0.015 3 0 0 0 0 17.08 98934 chr12 93175790 93175790 G A rs144710600 EEA1 Nonsynonymous SNV S1091L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 5.615 98935 chr16 1838050 1838050 A G rs57822546 NUBP2 Nonsynonymous SNV T59A 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 0.001 98936 chr16 1838830 1838830 G A rs7202773 NUBP2 Nonsynonymous SNV R162H 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 4.145 98937 chr16 1840777 1840777 G A rs9282731 IGFALS Nonsynonymous SNV R586W 0.003 0.005 0.017 1 3 2 0.003 5 0 0 1 0 Benign 14.77 98938 chr16 1842454 1842454 G A rs34680334 IGFALS Nonsynonymous SNV H27Y 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.038 98939 chr14 52493937 52493937 C T rs149428702 NID2 Nonsynonymous SNV D886N 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 7.211 98940 chr12 96077393 96077393 C T rs146881641 NTN4 Synonymous SNV G425G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.99 98941 chr4 38775919 38775919 A G rs146660104 TLR10 Synonymous SNV N431N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.369 98942 chr14 55241685 55241685 G A rs117806763 SAMD4A Synonymous SNV T174T 0.019 0.01 0.017 4 22 4 0.01 5 0 0 0 0 11.05 98943 chr15 42985873 42985873 C T rs61732534 STARD9 Nonsynonymous SNV P4033S 0.012 0.021 0.003 2 14 8 0.005 1 0 0 0 0 Likely benign 5.008 98944 chr17 40134390 40134390 G C rs200877184 DNAJC7 Nonsynonymous SNV L316V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 98945 chr17 40265751 40265751 C T rs147642400 KAT2A Synonymous SNV P810P 0.009 0.008 0.01 3 10 3 0.008 3 0 0 0 0 17.05 98946 chr16 2049893 2049893 C T rs367694594 ZNF598 Nonsynonymous SNV E553K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.6 98947 chr15 43250243 43250243 A G rs140959617 UBR1 Synonymous SNV Y1601Y 0.012 0.021 0.003 2 14 8 0.005 1 0 0 0 0 Benign/Likely benign 6.654 98948 chr14 58734218 58734218 C T rs572406683 PSMA3 Synonymous SNV I190I 0.005 0 0 0 6 0 0 0 0 0 0 0 19.58 98949 chr13 100622674 100622676 GGC - ZIC5 P424del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 98950 chr3 40503521 40503523 CTG - RPL14 A159del 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 98951 chr4 39328261 39328261 C T RFC1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 98952 chr3 40503523 40503523 - CTGCTGCTGCTGCTG RPL14 A159_K160insAAAAA 0.003 0 0 1 4 0 0.003 0 0 0 0 0 98953 chr3 40553936 40553936 - G rs755305906 ZNF620 Frameshift insertion E67Gfs*25 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 98954 chr4 38799414 38799414 T C TLR1 Nonsynonymous SNV I347V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 98955 chr15 38641715 38641715 C T rs144764225 SPRED1 Synonymous SNV S225S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 17.01 98956 chr12 53007572 53007572 C T rs201821664 KRT73 Nonsynonymous SNV R295Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 98957 chr14 95679647 95679647 G A CLMN Nonsynonymous SNV P173S 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 98958 chr17 42188148 42188148 G C HDAC5 Nonsynonymous SNV P16A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 98959 chr17 42284930 42284930 G A rs142426190 UBTF Synonymous SNV D650D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 98960 chr4 41747993 41748013 GCCGCCGCTGCCGCTGCCGCC - rs17879189 PHOX2B A254_A260del 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 98961 chr13 103701668 103701668 T A rs200923932 SLC10A2 Nonsynonymous SNV Q297L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.8 98962 chr4 47548776 47548776 A G rs10003238 ATP10D Nonsynonymous SNV N511S 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 0.001 98963 chr15 53992019 53992019 - T WDR72 Frameshift insertion W565Mfs*5 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 98964 chr15 42113030 42113030 G A rs750832287 MAPKBP1 Nonsynonymous SNV A828T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.34 98965 chr16 27221733 27221733 A G rs117905412 KDM8 Nonsynonymous SNV I135V 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Likely benign 8.155 98966 chr12 53722233 53722233 G A rs116856142 SP7 Synonymous SNV C331C 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Likely benign 4.05 98967 chr15 42177973 42177973 G A rs200785493 SPTBN5 Nonsynonymous SNV R494W 0.006 0.003 0.003 9 7 1 0.023 1 0 0 0 1 25.8 98968 chr4 56502331 56502331 C T rs560231307 NMU Nonsynonymous SNV R10K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.341 98969 chr13 114062093 114062093 C T rs560544409 LOC101928841 Nonsynonymous SNV V138M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.092 98970 chr15 42362163 42362163 G A rs146853362 PLA2G4D Nonsynonymous SNV P725L 0.002 0.003 0 5 2 1 0.013 0 0 0 0 1 27.5 98971 chr15 59323159 59323159 C G rs372851882 RNF111 Synonymous SNV A46A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 7.448 98972 chr15 42363379 42363379 G A rs150997625 PLA2G4D Synonymous SNV L606L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.868 98973 chr13 20716370 20716370 C T GJA3 Nonsynonymous SNV S353N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.347 98974 chr12 56137185 56137193 GCGGCGGCG - rs772273229 GDF11 A39_A41del 0 0.003 0 0 0 1 0 0 0 0 0 0 98975 chr4 62936451 62936451 A G rs1026425955 ADGRL3 Nonsynonymous SNV D1385G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 98976 chr17 48276657 48276657 A T rs771647906 COL1A1 Nonsynonymous SNV I134N 0 0 0.007 0 0 0 0 2 0 0 0 0 20.7 98977 chr15 42953382 42953382 T G rs61750788 STARD9 Synonymous SNV S243S 0.011 0.018 0.007 5 13 7 0.013 2 0 0 0 0 10.57 98978 chr12 56532009 56532009 C T rs35075600 ESYT1 Nonsynonymous SNV R774C 0.003 0.01 0.01 5 4 4 0.013 3 0 0 0 0 24.4 98979 chr4 68490825 68490825 T C UBA6 Nonsynonymous SNV N867D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.4 98980 chr15 63889624 63889624 G A rs1044460364 FBXL22 Synonymous SNV Q11Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.565 98981 chr15 43622098 43622098 T G rs35910853 LCMT2 Nonsynonymous SNV E197A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.002 98982 chr17 48744995 48744995 C T rs139425802 ABCC3 Synonymous SNV Y504Y 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 13.32 98983 chr15 65262527 65262527 T C SPG21 Synonymous SNV K135K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.938 98984 chr15 65677446 65677446 C A rs116928937 IGDCC4 Nonsynonymous SNV W1063L 0.014 0.013 0.017 10 16 5 0.026 5 1 0 0 0 32 98985 chr4 71554707 71554707 - AGA UTP3 E105_N106insK 0.003 0 0 0 4 0 0 0 0 0 0 0 98986 chr15 43821371 43821371 - C MAP1A Frameshift insertion R2569Pfs*8 0.002 0.005 0 0 2 2 0 0 0 0 0 0 98987 chr13 28239999 28239999 A G rs118191175 POLR1D Nonsynonymous SNV H65R 0.006 0.016 0.007 3 7 6 0.008 2 0 0 0 0 Benign 0.023 98988 chr3 51458204 51458204 G A rs150385433 DCAF1 Synonymous SNV S605S 0.018 0.005 0.014 10 21 2 0.026 4 0 0 0 0 6.907 98989 chr3 51738002 51738002 G T rs760939105 TEX264 Nonsynonymous SNV E230D 0.003 0 0 3 4 0 0.008 0 0 0 0 0 16.78 98990 chr17 54576402 54576402 G C rs61753934 ANKFN1 Nonsynonymous SNV D795H 0.011 0.003 0.024 3 13 1 0.008 7 0 0 0 0 25.3 98991 chr15 42132405 42132405 A G JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV H20R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 98992 chr15 70983680 70983680 A G rs575121985 UACA Synonymous SNV A95A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.68 98993 chr13 31729776 31729776 T G rs41292149 HSPH1 Nonsynonymous SNV N61H 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 23 98994 chr16 334721 334721 C T rs369185635 PDIA2 Nonsynonymous SNV R157W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 98995 chr17 58308995 58308995 T C rs758893607 SCARNA20 0 0 0.007 0 0 0 0 2 0 0 0 0 8.158 98996 chr13 33017748 33017748 G A rs147501500 N4BP2L2 Nonsynonymous SNV T294I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.001 98997 chr16 3640815 3640815 C G rs114014006 SLX4 Nonsynonymous SNV E942Q 0.009 0.01 0.02 5 11 4 0.013 6 0 0 0 0 Benign/Likely benign 11.12 98998 chr13 35733310 35733310 G A rs763957963 NBEA Nonsynonymous SNV R1001Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.73 98999 chr13 36765970 36765970 G A rs9602419 CCDC169-SOHLH2, SOHLH2 Synonymous SNV S164S 0.016 0.023 0.02 5 19 9 0.013 6 0 0 0 0 7.932 99000 chr14 90651097 90651097 C G KCNK13 Nonsynonymous SNV S326C 0.004 0 0 0 5 0 0 0 0 0 0 0 24.4 99001 chr17 61278229 61278229 T G rs117690040 TANC2 Nonsynonymous SNV I153S 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 Benign 2.674 99002 chr12 6562768 6562768 G C rs7295376 TAPBPL Nonsynonymous SNV G151R 0.009 0.016 0.01 2 10 6 0.005 3 0 0 0 0 0.93 99003 chr14 90744772 90744772 C T rs377201570 NRDE2 Nonsynonymous SNV D1135N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.4 99004 chr16 427459 427459 G A rs755283177 PGAP6 Synonymous SNV S142S 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 0 4.848 99005 chr12 6620395 6620395 A C rs61753198 NCAPD2 Synonymous SNV S188S 0.007 0.013 0.01 2 8 5 0.005 3 0 0 0 0 0.238 99006 chr14 91338468 91338468 C T rs35358985 RPS6KA5 Nonsynonymous SNV D568N 0.013 0.018 0.003 1 15 7 0.003 1 0 0 0 0 22.1 99007 chr12 6649710 6649710 G A rs138380449 IFFO1 Nonsynonymous SNV P540L 0.007 0.013 0.01 2 8 5 0.005 3 0 0 0 0 26.6 99008 chr15 43019870 43019870 G A rs758732191 CDAN1 Synonymous SNV R1015R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.86 99009 chr17 62223740 62223740 G A rs142175716 SNORA50C 0 0 0.041 0 0 0 0 12 0 0 0 0 19.53 99010 chr4 87684148 87684148 G T rs201633051 PTPN13 Nonsynonymous SNV W1083C 0.01 0.005 0.003 3 12 2 0.008 1 0 0 0 0 21.8 99011 chr14 92471105 92471105 T C rs200721244 TRIP11 Nonsynonymous SNV H1071R 0.003 0 0 0 3 0 0 0 0 0 0 0 8.891 99012 chr15 55731772 55731772 T C rs375468265 DNAAF4 Nonsynonymous SNV H264R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 15.81 99013 chr15 45388185 45388185 G A rs548949995 DUOX2 Synonymous SNV C1307C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.33 99014 chr4 88005275 88005275 A G AFF1 Nonsynonymous SNV T348A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.46 99015 chr4 87967339 87967339 C T rs138841791 AFF1 Synonymous SNV N13N 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 13.11 99016 chr14 93813728 93813728 C T COX8C Synonymous SNV P38P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.411 99017 chr4 88583745 88583745 G A rs145237146 DMP1 Nonsynonymous SNV R256H 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.632 99018 chr12 6978293 6978293 G T rs782569395 TPI1 Synonymous SNV T90T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.47 99019 chr12 6978527 6978527 G C rs782166025 TPI1 Nonsynonymous SNV V144L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 99020 chr15 57896482 57896482 C A rs142253131 GCOM1, MYZAP Nonsynonymous SNV L31I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 99021 chr15 49040744 49040744 T C rs759788211 CEP152 Nonsynonymous SNV K1177R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 22.7 99022 chr17 66033276 66033276 C T KPNA2 Nonsynonymous SNV P10S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 99023 chr17 66364770 66364770 G A rs146307895 ARSG Synonymous SNV A246A 0.003 0.008 0.014 1 3 3 0.003 4 0 0 0 0 Benign 6.973 99024 chr4 90874335 90874335 C T rs752252180 MMRN1 Synonymous SNV I1151I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.78 99025 chr15 58925428 58925428 A G rs199857079 ADAM10 Synonymous SNV F350F 0.005 0.008 0 0 6 3 0 0 0 0 0 0 9.1 99026 chr13 48528282 48528282 T A SUCLA2 Nonsynonymous SNV D367V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.3 99027 chr15 51790979 51790979 T C rs35349640 DMXL2 Nonsynonymous SNV D1481G 0.008 0 0.007 0 9 0 0 2 0 0 0 0 Benign 25.1 99028 chr3 58520695 58520695 T C ACOX2 Nonsynonymous SNV T47A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.3 99029 chr14 95085651 95085651 C T rs139055497 SERPINA3 Nonsynonymous SNV R255W 0.006 0.005 0.003 0 7 2 0 1 1 0 0 0 24.2 99030 chr16 5053539 5053539 C T rs763262413 SEC14L5 Stop gain R423X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 99031 chr3 64184685 64184685 - T rs374502686 PRICKLE2-AS3 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 99032 chr16 50746194 50746194 G A rs104895464 NOD2 Nonsynonymous SNV R764Q 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign/Likely benign 0.074 99033 chr17 67620867 67620867 T - rs10714061 LINC01483 0 0 0.105 0 0 0 0 31 0 0 2 0 99034 chr17 6917798 6917798 T C rs12135 RNASEK-C17orf49 0 0 0.014 0 0 0 0 4 0 0 2 0 6.212 99035 chr15 64215025 64215025 C G rs111424786 DAPK2 Nonsynonymous SNV G459A 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 7.022 99036 chr3 72937616 72937616 C G GXYLT2 Nonsynonymous SNV R78G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 99037 chr4 101386643 101386643 C T rs78403369 EMCN Nonsynonymous SNV V105I 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 0.145 99038 chr15 55516136 55516136 G C rs150463407 RAB27A Nonsynonymous SNV Q140E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 10.64 99039 chr16 56226638 56226638 - CACA rs149880726 DKFZP434H168 0.001 0 0.007 0 1 0 0 2 0 0 0 0 99040 chr15 55651926 55651926 T C rs191441883 CCPG1 Nonsynonymous SNV N682S 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 8.368 99041 chr13 52972231 52972231 T C rs766699678 THSD1 Nonsynonymous SNV N53D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.4 99042 chr16 56519618 56519618 T C rs758343294 BBS2 Nonsynonymous SNV Y648C 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 23.9 99043 chr13 60545158 60545158 G A rs150023947 DIAPH3 Nonsynonymous SNV P333L 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 25.5 99044 chr13 61987592 61987592 T C PCDH20 Nonsynonymous SNV I214V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 99045 chr15 22998470 22998470 C T rs146791821 CYFIP1 Synonymous SNV Y623Y 0.014 0.01 0.003 6 17 4 0.015 1 1 0 0 0 Benign 6.978 99046 chr17 7164243 7164243 C T CLDN7 Nonsynonymous SNV M95I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 99047 chr17 71751884 71751884 C T rs79010968 LOC100134391 0.003 0.008 0.017 1 4 3 0.003 5 0 0 0 0 4.965 99048 chr3 98216586 98216586 C G rs143260385 OR5K2 Nonsynonymous SNV P21R 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 17.14 99049 chr4 113462070 113462070 C T rs917428686 ZGRF1 Synonymous SNV T1881T 0.003 0 0 0 4 0 0 0 0 0 0 0 14.64 99050 chr12 82792949 82792949 G A rs34765930 METTL25 Nonsynonymous SNV E216K 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 17.5 99051 chr12 83424586 83424586 A T TMTC2 Nonsynonymous SNV S449C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 99052 chr13 77672744 77672744 T C rs199829350 MYCBP2 Nonsynonymous SNV N2849D 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 13.25 99053 chr3 101445570 101445570 G A rs111912421 CEP97 Nonsynonymous SNV R59Q 0.012 0.008 0.017 6 14 3 0.015 5 0 0 0 0 Benign 13.57 99054 chr15 69706663 69706663 G C rs192748396 LOC145694 0 0.01 0 0 0 4 0 0 0 0 0 0 6.845 99055 chr3 107096581 107096581 A G rs117360444 CCDC54 Synonymous SNV T49T 0.012 0.013 0.003 7 14 5 0.018 1 0 0 0 0 0.039 99056 chr15 63029153 63029153 C T rs747782492 TLN2 Synonymous SNV T1145T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 99057 chr3 108117612 108117612 G A rs76478083 MYH15 Nonsynonymous SNV R1689C 0.009 0.026 0.02 2 11 10 0.005 6 0 0 0 0 Benign 24.2 99058 chr13 95696599 95696599 G A rs141693430 ABCC4 Synonymous SNV L1137L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.939 99059 chr17 72926863 72926863 G A rs140841034 OTOP2 Nonsynonymous SNV G378D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 99060 chr13 95813572 95813572 C T rs146708960 ABCC4 Nonsynonymous SNV V729I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.921 99061 chr15 63958341 63958341 C T rs367959308 HERC1 Nonsynonymous SNV G2778R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 99062 chr15 64445532 64445532 A G rs199836540 SNX22 Nonsynonymous SNV N118S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 99063 chr17 73259480 73259480 A G MRPS7 Synonymous SNV E133E 0 0 0.007 0 0 0 0 2 0 0 0 0 10.4 99064 chr13 99114036 99114036 T G rs369841333 STK24 Synonymous SNV R330R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.755 99065 chr4 120528040 120528040 G A rs201501062 PDE5A Nonsynonymous SNV L189F 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 25.3 99066 chr4 125631261 125631261 G A rs79454313 ANKRD50 Nonsynonymous SNV R136C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 29.8 99067 chr15 74738485 74738485 G A rs371260227 UBL7 Synonymous SNV T363T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.832 99068 chr16 67183802 67183802 G T rs374517155 B3GNT9 Nonsynonymous SNV A196D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 99069 chr12 94975880 94975880 G A rs78957035 TMCC3 Synonymous SNV H140H 0.012 0.026 0.02 4 14 10 0.01 6 0 0 0 0 Benign 7.587 99070 chr17 73733421 73733421 G A rs149659118 ITGB4 Nonsynonymous SNV R670H 0.005 0 0.02 1 6 0 0.003 6 0 0 0 0 Conflicting interpretations of pathogenicity 19.81 99071 chr12 95365376 95365376 A G rs140235371 NDUFA12 X64R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 99072 chr16 67859098 67859098 A G rs74684664 TSNAXIP1 Nonsynonymous SNV D158G 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 24.6 99073 chr15 76646313 76646313 C T rs760587547 SCAPER Nonsynonymous SNV V1096I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 99074 chr15 65937992 65937992 C T rs201943537 SLC24A1 Nonsynonymous SNV A55V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 99075 chr16 68597330 68597330 G A rs138560558 ZFP90 Nonsynonymous SNV D214N 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.753 99076 chr15 77325273 77325273 G A rs758699821 PSTPIP1 Synonymous SNV P303P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.34 99077 chr14 102431074 102431074 T C rs2273437 DYNC1H1 Synonymous SNV L16L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 1.459 99078 chr14 102445743 102445743 G A rs533327200 DYNC1H1 Synonymous SNV S144S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 8.366 99079 chr14 102453876 102453876 G A rs17512082 DYNC1H1 Synonymous SNV S875S 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Benign 9.904 99080 chr14 102483120 102483120 A G rs17512460 DYNC1H1 Synonymous SNV E2544E 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Benign 5.756 99081 chr12 96883669 96883669 C G rs1049359326 CFAP54 Synonymous SNV T94T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.218 99082 chr14 102792675 102792675 G A rs371006557 ZNF839 Synonymous SNV P98P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.772 99083 chr17 74133981 74133981 G A rs776758063 FOXJ1 Nonsynonymous SNV P240L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.133 99084 chr17 74136473 74136473 C T rs889014117 FOXJ1 Nonsynonymous SNV A2T 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 99085 chr16 70363847 70363847 A T rs779276618 DDX19B Nonsynonymous SNV E149V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.9 99086 chr12 974486 974486 C T rs758110645 WNK1 Nonsynonymous SNV R784C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Uncertain significance 17.25 99087 chr15 93173514 93173514 C A rs778606057 FAM174B Nonsynonymous SNV V136L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 99088 chr4 151771930 151771930 C T rs1047132889 LRBA Nonsynonymous SNV R1317H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 35 99089 chr17 74557239 74557239 G C rs73369107 SNORD1B 0 0 0.02 0 0 0 0 6 0 0 0 0 14.49 99090 chr17 74557721 74557721 C A rs73369110 SNORD1A 0 0 0.02 0 0 0 0 6 0 0 0 0 16.46 99091 chr15 72191104 72191104 T C rs143652126 MYO9A Nonsynonymous SNV Q1247R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 10.44 99092 chr15 82336176 82336176 C T rs532191293 MEX3B Synonymous SNV G345G 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 17.89 99093 chr15 75310286 75310286 C T rs16973530 SCAMP5 Synonymous SNV A123A 0.012 0.021 0.007 2 14 8 0.005 2 0 0 1 0 18.65 99094 chr15 75646106 75646106 G A rs185157815 NEIL1 Nonsynonymous SNV G335R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.93 99095 chr15 75656523 75656523 C T rs190692217 MAN2C1 Nonsynonymous SNV G203R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.5 99096 chr16 75601937 75601937 G C rs147967714 GABARAPL2 Synonymous SNV V31V 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 13.52 99097 chr4 159592788 159592788 C A C4orf46 Nonsynonymous SNV V56L 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 99098 chr15 77321896 77321896 G A rs375950478 PSTPIP1 Synonymous SNV K181K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 7.38 99099 chr15 77325279 77325279 C T rs11858480 PSTPIP1 Synonymous SNV C305C 0.009 0.005 0.014 0 10 2 0 4 0 0 0 0 Benign 10.79 99100 chr17 76802252 76802252 G A rs140290111 USP36 Synonymous SNV P734P 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 7.799 99101 chr3 123348368 123348368 G A rs368571172 MYLK Synonymous SNV S1513S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.34 99102 chr17 77918854 77918854 G A rs376671116 TBC1D16 Synonymous SNV H212H 0 0 0.007 0 0 0 0 2 0 0 0 0 9.963 99103 chr16 1389543 1389543 C T rs773881878 BAIAP3 Nonsynonymous SNV A116V 0 0.008 0.003 0 0 3 0 1 0 0 0 0 14.99 99104 chr13 111532381 111532381 G A rs34910313 ANKRD10 Nonsynonymous SNV T289M 0.008 0.023 0.007 2 9 9 0.005 2 0 0 0 0 9.583 99105 chr4 156632028 156632028 T C GUCY1A1 Synonymous SNV P237P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.169 99106 chr16 1398249 1398249 G C rs779446694 BAIAP3 Nonsynonymous SNV G1065A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.002 99107 chr16 1435293 1435293 T C rs193075543 UNKL Nonsynonymous SNV S394G 0.008 0.021 0.007 6 9 8 0.015 2 0 0 0 0 8.388 99108 chr4 170042073 170042073 A G SH3RF1 Nonsynonymous SNV F472L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 99109 chr15 51806680 51806680 A G rs139597576 DMXL2 Nonsynonymous SNV M868T 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 12.4 99110 chr16 1486505 1486505 G A rs184119365 CCDC154 Synonymous SNV D476D 0 0.008 0 0 0 3 0 0 0 0 0 0 1.859 99111 chr4 170077646 170077646 G T rs759409610 SH3RF1 Nonsynonymous SNV P193Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.7 99112 chr15 80987968 80987968 C T rs971908227 ABHD17C Synonymous SNV A66A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 99113 chr14 21469248 21469248 T C rs150879559 SLC39A2 Nonsynonymous SNV F147S 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 0.535 99114 chr4 175898946 175898946 C T rs199820660 ADAM29 Nonsynonymous SNV S757F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 99115 chr3 125828893 125828893 C G rs772779224 ALDH1L1 Synonymous SNV G646G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.128 99116 chr14 21544739 21544739 C G rs151124726 ARHGEF40 Synonymous SNV P618P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.85 99117 chr4 183522222 183522222 G A rs755058736 TENM3 Synonymous SNV P219P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.78 99118 chr15 84651369 84651369 G T ADAMTSL3 Nonsynonymous SNV G997C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 99119 chr17 78970820 78970820 A T CHMP6 Nonsynonymous SNV E121V 0 0 0.007 0 0 0 0 2 0 0 0 0 27.7 99120 chr14 21896192 21896192 G A rs61744173 CHD8 Synonymous SNV N479N 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 5.899 99121 chr4 184431834 184431834 G A ING2 Nonsynonymous SNV R151H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 99122 chr15 55972747 55972747 T C PRTG Synonymous SNV V252V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 14.92 99123 chr14 21993517 21993517 C T rs146823588 SALL2 Synonymous SNV E115E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.85 99124 chr15 56387062 56387073 GTGGGTGTGGGT - rs752828645 RFX7 P865_T868del 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 99125 chr15 85401370 85401370 C T rs139666355 ALPK3 Nonsynonymous SNV A1336V 0.008 0.013 0.007 1 9 5 0.003 2 1 0 0 0 Likely benign 7.638 99126 chr16 84256614 84256614 G A rs373736130 KCNG4 Nonsynonymous SNV R257W 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 26.3 99127 chr16 1827157 1827157 C A SPSB3 Nonsynonymous SNV A337S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.818 99128 chr4 186392824 186392824 T C rs371504702 LOC105377590 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.957 99129 chr4 186435443 186435443 C T rs11944325 PDLIM3 Nonsynonymous SNV V48M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 23.1 99130 chr15 59466023 59466023 T G rs148812331 MYO1E Synonymous SNV P752P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 9.716 99131 chr17 79769679 79769679 C T rs368152053 GCGR Synonymous SNV I270I 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 18.14 99132 chr15 86311791 86311791 G A rs143809936 KLHL25 Synonymous SNV Y417Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.124 99133 chr3 134327482 134327482 C T rs186528841 KY Nonsynonymous SNV G325R 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.276 99134 chr16 8738526 8738526 G A rs55747257 METTL22 Nonsynonymous SNV E375K 0.014 0.016 0.014 3 16 6 0.008 4 1 0 0 0 23.4 99135 chr13 30814619 30814619 T C rs531441020 KATNAL1 Nonsynonymous SNV K235R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 99136 chr15 65249506 65249506 C T rs111486986 ANKDD1A Synonymous SNV L516L 0.022 0.023 0 6 26 9 0.015 0 4 0 0 0 8.879 99137 chr15 65313896 65313896 C T rs111388106 MTFMT Nonsynonymous SNV A201T 0.012 0.008 0.003 5 14 3 0.013 1 0 0 0 0 Benign 6.1 99138 chr15 65357558 65357558 A G rs36045000 RASL12 Synonymous SNV L53L 0.016 0.021 0.007 2 19 8 0.005 2 0 0 0 0 7.987 99139 chr13 31712572 31712572 C T rs73171026 HSPH1 Nonsynonymous SNV R705H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.99 99140 chr16 1259250 1259250 G T CACNA1H Synonymous SNV R1194R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.678 99141 chr16 2086409 2086409 A G SLC9A3R2 Nonsynonymous SNV S56G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 99142 chr3 138338588 138338588 G A rs199822647 FAIM Nonsynonymous SNV S7N 0.006 0 0 0 7 0 0 0 0 0 0 0 19.38 99143 chr16 21139071 21139071 G A rs72780871 DNAH3 Nonsynonymous SNV P382L 0.003 0.003 0.007 5 4 1 0.013 2 0 0 0 0 20.3 99144 chr5 492029 492029 G A rs144657077 SLC9A3 Synonymous SNV I123I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.546 99145 chr5 1075524 1075524 G A rs137990661 SLC12A7 Synonymous SNV L643L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.75 99146 chr3 140409837 140409837 G A rs79845561 TRIM42 Nonsynonymous SNV V630M 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 32 99147 chr5 1280394 1280394 C T rs776763536 TERT Nonsynonymous SNV R610Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 5.095 99148 chr16 2231252 2231252 G A rs201599923 CASKIN1 Nonsynonymous SNV S706L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 24.8 99149 chr15 90320161 90320161 G A rs113097169 MESP2 Synonymous SNV G191G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.163 99150 chr16 22826046 22826046 T G rs189013090 HS3ST2 Nonsynonymous SNV C39G 0.008 0.016 0.003 1 9 6 0.003 1 0 0 0 0 10.99 99151 chr16 88787057 88787057 G A rs771257968 PIEZO1 Nonsynonymous SNV A1923V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 4.585 99152 chr15 70959823 70959823 T G rs144784600 UACA Nonsynonymous SNV E1054A 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 99153 chr14 35483957 35483957 C T rs61754298 SRP54 Synonymous SNV G249G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 19.88 99154 chr5 453992 453992 T C rs772439151 EXOC3 Nonsynonymous SNV I291T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.221 99155 chr16 88884454 88884454 G A rs147536058 GALNS Synonymous SNV P296P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 10.27 99156 chr16 88932769 88932769 C G rs146771138 PABPN1L Nonsynonymous SNV L82F 0.019 0.013 0.02 7 22 5 0.018 6 0 0 0 1 0.001 99157 chr3 151163797 151163797 G A rs371517146 IGSF10 Synonymous SNV T1324T 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 1.991 99158 chr16 1841153 1841153 G A rs36068954 IGFALS Synonymous SNV L460L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.997 99159 chr16 1866924 1866924 G A rs149582095 HAGH Nonsynonymous SNV P203L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.1 99160 chr13 45589616 45589616 C G rs151309735 GPALPP1 Nonsynonymous SNV P197R 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 28.2 99161 chr16 2820684 2820684 C T rs138495768 SRRM2 Nonsynonymous SNV P2739S 0.019 0.026 0.01 4 22 10 0.01 3 0 0 0 0 20.9 99162 chr18 21140411 21140411 T C rs55680026 NPC1 Nonsynonymous SNV N222S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.81 99163 chr16 2871103 2871103 C A rs139303479 PRSS21 Stop gain C222X 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 26.1 99164 chr13 50050867 50050867 A G rs775853055 SETDB2, SETDB2-PHF11 Synonymous SNV L187L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.465 99165 chr18 24917084 24917084 T C rs9957698 LOC105372038 0 0 0.024 0 0 0 0 7 0 0 0 0 5.373 99166 chr16 20856541 20856541 C A rs142000603 REXO5 Nonsynonymous SNV P670H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 2.438 99167 chr3 169706053 169706053 C T rs372368677 SEC62 Synonymous SNV L212L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 12.7 99168 chr17 10253880 10253880 G A rs190698339 MYH13 Synonymous SNV G379G 0.006 0.008 0 0 7 3 0 0 0 0 0 0 11.11 99169 chr16 29848162 29848162 C T rs137947788 MVP Synonymous SNV H264H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 15.17 99170 chr15 79749909 79749909 G A rs147416682 MINAR1 Nonsynonymous SNV V474M 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 24.5 99171 chr16 30119704 30119704 C G rs146701553 GDPD3 Nonsynonymous SNV V253L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 99172 chr18 28923528 28923528 A G rs148241984 DSG1 Synonymous SNV G601G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 13.45 99173 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATG MYH3 Frameshift insertion G203Ifs*77 0.012 0.016 0 6 14 6 0.015 0 0 0 0 0 99174 chr17 10614435 10614438 AAGA - ADPRM R338Pfs*22 0.003 0.008 0 0 4 3 0 0 0 0 0 0 99175 chr18 28934375 28934375 T C rs117656447 DSG1 Nonsynonymous SNV I739T 0.002 0.01 0.014 1 2 4 0.003 4 0 0 0 0 Benign 25.1 99176 chr16 3021907 3021907 C T rs138537826 PAQR4 Synonymous SNV P186P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 11.97 99177 chr17 1174010 1174010 G A rs928252291 BHLHA9 Synonymous SNV E51E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 1.649 99178 chr16 30913846 30913846 G A CTF1 Nonsynonymous SNV G197R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.9 99179 chr3 183041069 183041069 C T rs776445954 MCF2L2 Nonsynonymous SNV G186E 0.001 0 0 0 1 0 0 0 0 0 0 0 34 99180 chr18 3112330 3112330 G A MYOM1 Synonymous SNV D1032D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.667 99181 chr16 31226446 31226446 C G rs777546373 TRIM72 Synonymous SNV L129L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.704 99182 chr13 95673869 95673869 C T rs766098998 ABCC4 Nonsynonymous SNV G1266E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 99183 chr5 44809433 44809433 - GAGCCC rs779308521 MRPS30 P135_A136insEP 0.007 0.005 0.003 5 8 2 0.013 1 0 0 0 0 99184 chr17 1631631 1631631 C T rs200728574 WDR81 Synonymous SNV D1126D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.116 99185 chr16 15814883 15814883 C T rs137934837 MYH11 Nonsynonymous SNV R1535Q 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 35 99186 chr13 99457395 99457395 G A rs747381510 DOCK9 Synonymous SNV D1830D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 99187 chr13 99550487 99550487 T C DOCK9 Nonsynonymous SNV K512R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 99188 chr18 43310313 43310313 G A rs113578396 SLC14A1 Nonsynonymous SNV V66M 0.003 0.01 0.017 2 4 4 0.005 5 0 0 0 0 Benign 6.011 99189 chr18 43311054 43311054 G A rs113029149 SLC14A1 Nonsynonymous SNV V132I 0.003 0.01 0.017 2 4 4 0.005 5 0 0 0 0 Benign 14.87 99190 chr18 43311131 43311131 G A rs28994287 SLC14A1 Synonymous SNV V157V 0.003 0.01 0.017 2 4 4 0.005 5 0 0 0 0 Benign 9.445 99191 chr18 43418718 43418718 A G rs78592672 SIGLEC15 Nonsynonymous SNV S178G 0.008 0.01 0.027 2 9 4 0.005 8 0 0 0 0 0.002 99192 chr18 43446868 43446868 G A rs114665741 EPG5 Synonymous SNV Y2172Y 0.007 0.01 0.02 2 8 4 0.005 6 0 0 0 0 Benign 7.701 99193 chr18 43456296 43456296 C T rs34674177 EPG5 Nonsynonymous SNV R1985Q 0.007 0.01 0.02 2 8 4 0.005 6 0 0 0 0 Benign 23.1 99194 chr18 43460076 43460076 A G rs376297358 EPG5 Synonymous SNV L1877L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.282 99195 chr16 3929849 3929849 C T rs766095612 CREBBP Synonymous SNV S23S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.98 99196 chr3 186006614 186006614 G C rs762953942 DGKG Synonymous SNV P143P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.953 99197 chr17 17719236 17719236 T A SREBF1 Nonsynonymous SNV D750V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 99198 chr17 17720592 17720592 G A rs137858867 SREBF1 Synonymous SNV N504N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 99199 chr18 44624592 44624592 - AA rs35678878 KATNAL2 Frameshift insertion S281Kfs*4 0.008 0.01 0.007 8 9 4 0.021 2 0 0 0 1 99200 chr16 1841559 1841559 G A rs35706152 IGFALS Nonsynonymous SNV P325L 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.657 99201 chr3 186508155 186508155 C A rs763551173 RFC4 Nonsynonymous SNV C281F 0.003 0.01 0 0 4 4 0 0 0 0 0 0 31 99202 chr16 30680463 30680463 C G FBRS Nonsynonymous SNV P814A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.003 99203 chr3 186572026 186572026 G A rs62625753 ADIPOQ Nonsynonymous SNV G90S 0.014 0.016 0.01 1 17 6 0.003 3 0 0 0 0 Likely benign 27.7 99204 chr16 30735038 30735038 C G rs79597785 SRCAP Synonymous SNV V1431V 0.005 0.013 0.01 2 6 5 0.005 3 0 0 0 0 Benign/Likely benign 0.611 99205 chr16 19049331 19049331 T C TMC7 Nonsynonymous SNV Y39H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 99206 chr18 50912459 50912459 C T rs559067617 DCC Synonymous SNV A802A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 99207 chr16 31088957 31088957 G A ZNF646 Nonsynonymous SNV V438I 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 0.002 99208 chr16 20386185 20386185 G A rs144890989 PDILT Nonsynonymous SNV R214C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 99209 chr16 4940301 4940301 C G rs367924372 PPL Nonsynonymous SNV E733Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.007 99210 chr16 31925986 31925986 T C rs117668484 ZNF267 Nonsynonymous SNV F139S 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 6.919 99211 chr16 31927308 31927308 G A rs118056264 ZNF267 Nonsynonymous SNV A580T 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 23.5 99212 chr16 50186888 50186888 - CGGGGAAGCCGAGG TENT4B Frameshift insertion R15Gfs*82 0 0.003 0 0 0 1 0 0 0 0 0 0 99213 chr15 90645420 90645420 C A rs12912761 IDH2-DT 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.13 99214 chr16 3358689 3358689 A G rs530992366 ZNF75A Nonsynonymous SNV I87M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.01 99215 chr5 55272085 55272085 G C rs1063560 IL6ST Nonsynonymous SNV L8V 0.005 0.008 0.017 6 6 3 0.015 5 0 0 0 0 0.001 99216 chr16 3614093 3614093 C T rs201734632 NLRC3 Nonsynonymous SNV R282Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.9 99217 chr3 196295888 196295888 C T rs576470291 FBXO45 Synonymous SNV A11A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.42 99218 chr16 24582817 24582817 A G rs140033849 RBBP6 Nonsynonymous SNV Y1443C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 99219 chr14 105857980 105857980 A T PACS2 Nonsynonymous SNV D621V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 99220 chr16 2814950 2814950 C T rs140421601 SRRM2 Nonsynonymous SNV S1474F 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Likely benign 14.85 99221 chr14 75516233 75516233 A C rs556487716 MLH3 Synonymous SNV A42A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 99222 chr14 75538261 75538261 G A rs117100576 ZC2HC1C Nonsynonymous SNV E329K 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 24.3 99223 chr17 26881492 26881492 C T rs34489987 PIGS Nonsynonymous SNV V472I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.37 99224 chr17 26943819 26943819 T G rs761545535 SPAG5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.142 99225 chr14 75587867 75587867 C T NEK9 Synonymous SNV L136L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 99226 chr5 72865469 72865469 T C rs745772234 UTP15 Synonymous SNV A153A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.617 99227 chr14 77493647 77493647 - GCGGCG rs762944175 IRF2BPL A164_V165insAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 99228 chr16 48117659 48117659 A T rs12373105 ABCC12 Nonsynonymous SNV F1349L 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 24.4 99229 chr18 74728823 74728823 C T rs61742988 MBP Nonsynonymous SNV G48S 0.017 0.016 0.017 6 20 6 0.015 5 0 0 0 0 19.55 99230 chr14 20876282 20876282 G A rs41310936 TEP1 Nonsynonymous SNV S106F 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 24.2 99231 chr4 2695585 2695585 C T rs139214890 FAM193A Nonsynonymous SNV P735S 0.004 0 0.014 2 5 0 0.005 4 0 0 0 0 25.9 99232 chr14 81371189 81371189 G A rs115751818 CEP128 Nonsynonymous SNV R150W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 99233 chr18 77918425 77918425 C T rs143404146 PARD6G Synonymous SNV A120A 0.002 0 0.014 0 2 0 0 4 0 0 0 0 13.76 99234 chr16 12571662 12571662 G A rs985244848 SNX29 Synonymous SNV K708K 0.003 0 0 0 3 0 0 0 0 0 0 0 12.8 99235 chr16 30965106 30965106 C T rs762809607 ORAI3 Nonsynonymous SNV R277C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 99236 chr16 30991073 30991073 C T rs752423837 SETD1A Synonymous SNV P1322P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 99237 chr4 2952959 2952959 C T rs778971870 NOP14 Nonsynonymous SNV R295Q 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 22.4 99238 chr18 9359990 9359990 G A rs142770364 TWSG1 Synonymous SNV P48P 0.017 0.026 0.017 5 20 10 0.013 5 0 0 0 0 6.508 99239 chr16 53288510 53288510 T G rs150434645 CHD9 Nonsynonymous SNV V1341G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 99240 chr14 88983442 88983442 A G PTPN21 Nonsynonymous SNV I115T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 14.07 99241 chr16 31896561 31896561 A G rs61740916 ZNF267 Synonymous SNV T70T 0.006 0.01 0.007 5 7 4 0.013 2 0 0 1 0 0.003 99242 chr16 3255098 3255098 G A rs756623758 OR1F1 Nonsynonymous SNV M284I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 99243 chr19 10084471 10084471 C A rs62638751 COL5A3 Synonymous SNV L1191L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.53 99244 chr19 10129555 10129555 C T rs2233795 RDH8 Synonymous SNV I137I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 16.77 99245 chr16 3634776 3634776 A G rs771884489 SLX4 Nonsynonymous SNV L1578P 0.003 0 0 0 3 0 0 0 0 0 0 0 29.6 99246 chr16 3707296 3707296 G A rs774087461 DNASE1 Nonsynonymous SNV D220N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 99247 chr14 22138515 22138515 C T rs920922523 OR4E1 Nonsynonymous SNV V212M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.71 99248 chr16 4242176 4242176 T C rs758749146 SRL Nonsynonymous SNV K467R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.5 99249 chr19 10531727 10531727 G C rs896204536 PDE4A Nonsynonymous SNV G96A 0 0 0.007 0 0 0 0 2 0 0 0 0 17.59 99250 chr19 1056918 1056918 G A rs267605268 ABCA7 Synonymous SNV S1533S 0 0.003 0.014 0 0 1 0 4 0 0 0 0 1.008 99251 chr4 6293076 6293076 G A rs770713329 WFS1 Nonsynonymous SNV G205S 0.009 0.003 0 0 11 1 0 0 0 0 0 0 23.1 99252 chr14 23547416 23547416 T C rs115060316 ACIN1 Synonymous SNV Q707Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.054 99253 chr5 102537285 102537285 A G rs36046591 PPIP5K2 Nonsynonymous SNV S1109G 0.015 0.01 0.01 7 18 4 0.018 3 1 0 0 0 7.726 99254 chr19 10742605 10742605 G C rs141928916 SLC44A2 Nonsynonymous SNV V228L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 99255 chr19 10753674 10753674 C T rs543172214 SLC44A2 Nonsynonymous SNV R706W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 19.23 99256 chr14 24033829 24033829 G A rs748127582 AP1G2 Nonsynonymous SNV A216V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 99257 chr14 24535862 24535862 A G rs747657626 CARMIL3 Nonsynonymous SNV I1227V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.59 99258 chr14 24551952 24551952 T C rs772252903 NRL Nonsynonymous SNV T36A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.3 99259 chr14 24607804 24607804 G A rs184683192 PSME1 Nonsynonymous SNV R235K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.84 99260 chr16 48303976 48303976 C T rs371225691 LONP2 Synonymous SNV Y300Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 99261 chr19 11342934 11342934 G T DOCK6 Nonsynonymous SNV S917Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 99262 chr19 11488877 11488877 C T rs62638744 EPOR Nonsynonymous SNV R437H 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 17.16 99263 chr16 4935958 4935958 C T rs751859543 PPL Nonsynonymous SNV D900N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 99264 chr14 99969146 99969146 T C CCNK Nonsynonymous SNV L279P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.1 99265 chr5 95236454 95236454 G C rs41276265 ELL2 Synonymous SNV G299G 0.005 0.005 0.02 1 6 2 0.003 6 0 0 0 0 5.136 99266 chr16 2030971 2030971 C T rs117304081 NOXO1 Nonsynonymous SNV R39H 0.003 0 0 0 4 0 0 0 0 0 0 0 14.6 99267 chr4 8605801 8605801 C T rs141164374 CPZ Nonsynonymous SNV R188W 0.003 0 0 0 4 0 0 0 0 0 0 0 26.8 99268 chr16 75575308 75575308 C G rs199813223 TMEM231 Nonsynonymous SNV R290T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 99269 chr16 75682127 75682127 G T rs546081204 TERF2IP Nonsynonymous SNV G116V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.45 99270 chr16 75682428 75682428 C T rs752833286 TERF2IP Synonymous SNV D216D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 9.463 99271 chr16 20802007 20802007 C G rs34381224 ACSM3 Stop gain Y441X 0.01 0.005 0.01 3 12 2 0.008 3 0 0 0 0 35 99272 chr14 31355318 31355318 C A COCH Nonsynonymous SNV T426N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 99273 chr16 55523622 55523622 C T rs41513346 MMP2 Synonymous SNV L306L 0.008 0.01 0 0 9 4 0 0 0 0 0 0 Benign 18.2 99274 chr4 13604351 13604351 C T rs1055538703 BOD1L1 Synonymous SNV T1391T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.95 99275 chr14 31553981 31553981 A G rs200969079 AP4S1 Nonsynonymous SNV I101V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 99276 chr16 68395130 68395130 A C rs747282739 SMPD3 Synonymous SNV S649S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.013 99277 chr16 78420787 78420787 G A rs74944733 WWOX Nonsynonymous SNV D70N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 27.2 99278 chr14 31597995 31597995 T C HECTD1 Nonsynonymous SNV M1528V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.847 99279 chr5 102423762 102423762 C T GIN1 Nonsynonymous SNV G323D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.903 99280 chr14 31852748 31852748 T G rs200874693 HEATR5A Synonymous SNV G525G 0 0.008 0.01 1 0 3 0.003 3 0 0 0 0 9.949 99281 chr16 69184573 69184573 G C rs760350216 UTP4 Nonsynonymous SNV R208P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 99282 chr5 110096992 110096992 A G rs141213807 SLC25A46 Nonsynonymous SNV K165R 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.99 99283 chr16 81236268 81236268 C T rs752912590 PKD1L2 Nonsynonymous SNV S327N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 27.5 99284 chr16 69366731 69366731 C T rs202134146 COG8 Nonsynonymous SNV G490R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.1 99285 chr14 33293399 33293399 A G rs145616968 AKAP6 Nonsynonymous SNV N2127S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.033 99286 chr16 69965444 69965444 C T rs146199930 WWP2 Synonymous SNV S79S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 15.54 99287 chr16 23113728 23113728 G A rs372122291 USP31 Synonymous SNV D382D 0.003 0 0 0 4 0 0 0 0 0 0 0 11.3 99288 chr14 38061099 38061099 G A rs577631417 FOXA1 Nonsynonymous SNV P297L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.16 99289 chr16 82033022 82033022 A G rs11861598 SDR42E1 Synonymous SNV F292F 0.02 0.039 0.017 6 23 15 0.015 5 0 0 0 0 0.007 99290 chr16 57760824 57760824 C T rs2967125 DRC7 Synonymous SNV S620S 0.014 0.01 0.007 4 17 4 0.01 2 0 0 0 0 12.47 99291 chr16 711895 711895 G A rs200973161 WDR90 Nonsynonymous SNV R1290H 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 0.029 99292 chr16 836081 836081 C A rs61745562 RPUSD1 Nonsynonymous SNV G141C 0.01 0.013 0.017 1 12 5 0.003 5 0 0 0 0 8.635 99293 chr16 836149 836149 A G rs3751672 RPUSD1 Nonsynonymous SNV L118P 0.011 0.016 0.024 1 13 6 0.003 7 0 0 1 0 24.4 99294 chr19 14675072 14675072 C A rs76484116 TECR Synonymous SNV G154G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 15.91 99295 chr16 837073 837073 A G rs74698335 RPUSD1 Nonsynonymous SNV V138A 0.011 0.016 0.024 1 13 6 0.003 7 0 0 1 0 0.17 99296 chr19 14675889 14675889 C T rs59273619 TECR Synonymous SNV L206L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 13.31 99297 chr5 134235335 134235335 G A rs149940297 TXNDC15 Nonsynonymous SNV R280Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 99298 chr19 14877148 14877148 G T rs61732009 ADGRE2 Nonsynonymous SNV T178N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.5 99299 chr5 134871220 134871220 T G rs762688785 NEUROG1 Nonsynonymous SNV N54T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 99300 chr16 27784497 27784497 G A rs117316062 KIAA0556 Nonsynonymous SNV E1426K 0.03 0.021 0.031 18 35 8 0.046 9 2 0 0 0 24.6 99301 chr16 613818 613818 C T rs200365746 PRR35 Nonsynonymous SNV A175V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.007 99302 chr16 2818066 2818066 A G rs144257955 SRRM2 Nonsynonymous SNV T2513A 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 Likely benign 10.05 99303 chr5 131007787 131007787 A G rs77554442 FNIP1 Synonymous SNV L756L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 99304 chr16 28854316 28854316 T C rs199674838 TUFM Nonsynonymous SNV K422E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17 99305 chr14 50246974 50246974 C G rs149061228 KLHDC2 Nonsynonymous SNV L273V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.9 99306 chr5 131671629 131671629 G C rs199597043 SLC22A4 Synonymous SNV A460A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.901 99307 chr16 2949149 2949149 A G rs143698118 FLYWCH2 Synonymous SNV X141X 0.01 0.003 0 2 12 1 0.005 0 0 0 0 0 5.988 99308 chr16 67316726 67316726 C A rs749115083 PLEKHG4 Nonsynonymous SNV Q411K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 99309 chr15 40707612 40707612 G A rs138427412 IVD Synonymous SNV A267A 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.18 99310 chr16 29845368 29845368 C T rs772883962 MVP Synonymous SNV D186D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.34 99311 chr16 76592481 76592481 A G rs142616027 CNTNAP4 Synonymous SNV A1147A 0.014 0.023 0.003 6 17 9 0.015 1 0 0 0 0 9.011 99312 chr14 52187082 52187082 G A rs565924420 FRMD6 Nonsynonymous SNV R87Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 99313 chr5 140230533 140230533 G A rs148067258 PCDHA9 Nonsynonymous SNV R818Q 0.007 0.01 0 1 8 4 0.003 0 1 1 0 0 1.238 99314 chr16 67771917 67771917 G A rs201662330 RANBP10 Nonsynonymous SNV P80L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 99315 chr16 67876805 67876805 - CAGCAGCAGCAGCAGCAACAGCAGCAG THAP11 Q132_S133insQQQQQQQQQ 0.009 0.013 0 6 10 5 0.015 0 1 0 0 0 99316 chr16 30734496 30734496 A G rs751529827 SRCAP Nonsynonymous SNV T1369A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 3.14 99317 chr19 15890725 15890725 G T rs56378626 CYP4F24P 0 0 0.112 0 0 0 0 33 0 0 2 0 5.808 99318 chr14 55005089 55005089 G A rs142726606 CGRRF1 Synonymous SNV P329P 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 Benign 5.511 99319 chr16 81209298 81209298 C G rs142349771 PKD1L2 Nonsynonymous SNV G147A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 26.5 99320 chr4 54245429 54245429 C T FIP1L1 Synonymous SNV A41A 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 20.3 99321 chr15 42147052 42147052 G A rs928148693 SPTBN5 Synonymous SNV H3182H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 99322 chr5 137765537 137765537 G A rs61750312 KDM3B Synonymous SNV E1592E 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 11.32 99323 chr4 55979552 55979552 G A rs368062574 KDR Nonsynonymous SNV R299W 0.003 0 0 0 3 0 0 0 0 0 0 0 not provided 28.9 99324 chr14 58038603 58038603 A C SLC35F4 Nonsynonymous SNV C314W 0 0.003 0 0 0 1 0 0 0 0 0 0 2.338 99325 chr16 3189014 3189014 C G rs780457798 ZNF213 Synonymous SNV S212S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.19 99326 chr5 140768218 140768218 A G rs186708822 PCDHGB4 Nonsynonymous SNV Y256C 0.003 0 0 0 3 0 0 0 0 0 0 0 7.307 99327 chr16 82131978 82131978 T C rs755387304 HSD17B2 Synonymous SNV F367F 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 0.083 99328 chr16 3293403 3293403 T C rs104895094 MEFV Nonsynonymous SNV K695R 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.101 99329 chr16 82673042 82673042 G A rs376170874 CDH13 Nonsynonymous SNV R53H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 14.72 99330 chr16 334957 334957 G A rs148442250 PDIA2 Nonsynonymous SNV R207Q 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 3.13 99331 chr16 70708296 70708296 G A rs746802122 MTSS2 Synonymous SNV S322S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 99332 chr16 70818118 70818118 A G rs113251587 VAC14 Synonymous SNV I164I 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 5.293 99333 chr5 141243762 141243762 C T rs34636888 PCDH1 Nonsynonymous SNV A333T 0.014 0.01 0.007 9 17 4 0.023 2 1 0 0 1 22.7 99334 chr16 88782055 88782055 G A rs530762101 PIEZO1 Synonymous SNV R2508R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Likely benign 8.863 99335 chr19 17622631 17622631 C T PGLS Synonymous SNV L50L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.94 99336 chr16 3726094 3726094 T C rs113476582 TRAP1 Nonsynonymous SNV I200V 0.008 0 0 1 9 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 99337 chr5 140529938 140529938 G A rs141476251 PCDHB6 Nonsynonymous SNV V34I 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 9.764 99338 chr16 424288 424288 G A rs74000555 TMEM8A Nonsynonymous SNV A563V 0.025 0.042 0.058 13 29 16 0.033 17 0 1 2 0 0.311 99339 chr5 140572475 140572475 A C rs143882112 PCDHB10 Nonsynonymous SNV Y117S 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 18.27 99340 chr5 140580319 140580319 G A rs370999149 PCDHB11 Synonymous SNV G324G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.38 99341 chr5 140625429 140625429 C A rs142267472 PCDHB15 Nonsynonymous SNV L95M 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 24.3 99342 chr5 140626117 140626117 G C rs147373970 PCDHB15 Nonsynonymous SNV G324A 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 13.24 99343 chr16 72923694 72923694 A C rs138124176 ZFHX3 Synonymous SNV L214L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.214 99344 chr16 72993182 72993182 T C ZFHX3 Nonsynonymous SNV K288R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 99345 chr16 85832740 85832740 G A rs934011621 EMC8 Synonymous SNV F54F 0 0.008 0 1 0 3 0.003 0 0 0 0 0 13.64 99346 chr15 49048567 49048567 A G rs201342438 CEP152 Nonsynonymous SNV W960R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 99347 chr15 49311651 49311651 A G rs192860722 SECISBP2L Synonymous SNV H378H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.985 99348 chr5 148431769 148431769 C T rs148793803 SH3TC2 Synonymous SNV S29S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.82 99349 chr16 76482795 76482795 A C rs745795814 CNTNAP4 Synonymous SNV R163R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.238 99350 chr5 148977493 148977493 C G rs199543277 ARHGEF37 Nonsynonymous SNV S54C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.38 99351 chr5 140802002 140802002 A G rs199795822 PCDHGA11 Nonsynonymous SNV Y403C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.3 99352 chr14 68352668 68352668 C T rs747025494 RAD51B Nonsynonymous SNV L179F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 99353 chr19 19381062 19381062 C T rs117957107 TM6SF2 Synonymous SNV A107A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 8.32 99354 chr19 19946637 19946637 A G rs12052168 ZNF56 Nonsynonymous SNV T150A 0 0 0.02 0 0 0 0 6 0 0 1 0 3.304 99355 chr16 88496692 88496692 G A rs140480823 ZNF469 Synonymous SNV A938A 0.015 0.026 0.014 1 18 10 0.003 4 0 0 0 0 Benign/Likely benign 11.74 99356 chr16 921187 921187 C T rs192520307 LMF1 Nonsynonymous SNV R242Q 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign 1.081 99357 chr16 77398174 77398174 C T ADAMTS18 Nonsynonymous SNV V123M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 99358 chr16 50731226 50731226 G C rs947655808 NOD2 Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.28 99359 chr17 10404812 10404812 C T rs377745179 MYH1 Nonsynonymous SNV R1118H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 33 99360 chr17 10451083 10451083 A T rs746721924 MYH2 Nonsynonymous SNV I52N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 99361 chr15 56387769 56387769 T G rs778366443 RFX7 Synonymous SNV S622S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.313 99362 chr17 11520836 11520836 T C DNAH9 Nonsynonymous SNV L338P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 26.9 99363 chr4 79831866 79831866 G A rs200678439 BMP2K Nonsynonymous SNV R722Q 0.004 0.008 0 0 5 3 0 0 0 0 0 0 12.52 99364 chr17 4799323 4799323 G A rs147980323 MINK1 Synonymous SNV L1093L 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 9.482 99365 chr19 22784443 22784443 G A rs62121320 GOLGA2P9 0 0 0.027 0 0 0 0 8 0 0 0 0 1.587 99366 chr16 88781103 88781103 G C rs772644386 CTU2 Nonsynonymous SNV G350A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.249 99367 chr17 48452909 48452909 G A rs141978919 EME1 Nonsynonymous SNV D114N 0.004 0 0 0 5 0 0 0 0 0 0 0 4.747 99368 chr14 74825025 74825025 G A rs771668700 VRTN Synonymous SNV R513R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.74 99369 chr14 75052601 75052601 C G rs370399148 LTBP2 Synonymous SNV P262P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 99370 chr4 85525421 85525421 G C rs118099717 CDS1 Nonsynonymous SNV G48A 0.005 0.008 0 0 6 3 0 0 0 0 0 0 11.03 99371 chr19 2852687 2852687 C T rs774920296 ZNF555 Synonymous SNV T207T 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 14 99372 chr16 81939064 81939064 C T rs372678135 PLCG2 Synonymous SNV D473D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.66 99373 chr17 4860157 4860157 G A rs561474067 ENO3 Nonsynonymous SNV R360H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 99374 chr17 15961803 15961803 T C NCOR1 Nonsynonymous SNV K1895E 0.012 0.008 0 3 14 3 0.008 0 0 0 0 0 24.1 99375 chr16 88901744 88901744 G T rs61742258 GALNS Synonymous SNV R74R 0.007 0.005 0.01 5 8 2 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 14.49 99376 chr19 32873684 32873684 G A rs115951997 ZNF507 Nonsynonymous SNV V853I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 99377 chr5 153429301 153429301 T C rs139845708 MFAP3 Synonymous SNV L7L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.028 99378 chr16 84213876 84213876 C T rs4150164 TAF1C Synonymous SNV P155P 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 9.515 99379 chr14 77965098 77965098 G A rs532557527 ISM2 Synonymous SNV C13C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.27 99380 chr4 91389428 91389428 A G rs150977627 CCSER1 Synonymous SNV A549A 0.012 0.016 0.007 2 14 6 0.005 2 0 0 0 0 0.99 99381 chr14 78177183 78177183 C A rs369851843 SLIRP Nonsynonymous SNV Q34K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 99382 chr16 89346257 89346257 G T rs763625090 ANKRD11 Synonymous SNV A2231A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 2.846 99383 chr17 17751061 17751061 G A rs200243623 TOM1L2 Nonsynonymous SNV A353V 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 23.4 99384 chr16 89655120 89655120 G A rs28568523 CPNE7 Nonsynonymous SNV R322Q 0.011 0.005 0 1 13 2 0.003 0 0 0 0 0 25.2 99385 chr5 157170776 157170776 G C rs769814058 LSM11 Synonymous SNV R6R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.22 99386 chr16 66599849 66599849 C T CKLF Nonsynonymous SNV L47F 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 99387 chr19 34001966 34001966 C A rs930883932 PEPD Nonsynonymous SNV R99S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 99388 chr16 66977782 66977782 G A rs140097117 CES2 Nonsynonymous SNV D512N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.824 99389 chr16 67293744 67293744 G A rs116229178 SLC9A5 Synonymous SNV A478A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.44 99390 chr16 9057083 9057083 G A rs374020920 USP7 Synonymous SNV P20P 0.013 0.008 0.003 8 15 3 0.021 1 1 0 0 1 13.31 99391 chr14 88945612 88945612 C T rs758322555 PTPN21 Synonymous SNV E721E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 99392 chr17 18181571 18181571 C G rs764056770 TOP3A Nonsynonymous SNV D654H 0.009 0.008 0 0 11 3 0 0 0 0 0 0 22.8 99393 chr16 67321882 67321882 A G rs756488632 PLEKHG4 Nonsynonymous SNV N981S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 99394 chr14 89148235 89148235 C T rs778390734 EML5 Synonymous SNV K1041K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.12 99395 chr19 35898859 35898859 T C rs12979319 LINC01531 0 0 0.075 0 0 0 0 22 0 0 2 0 11.63 99396 chr5 167995799 167995799 C T rs376150396 PANK3 Nonsynonymous SNV R78Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 99397 chr16 67864397 67864397 T C rs540685212 CENPT Nonsynonymous SNV N253S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 99398 chr17 20135693 20135693 G A rs145743421 SPECC1 Nonsynonymous SNV V695M 0.014 0.016 0.007 4 16 6 0.01 2 0 0 0 0 7.819 99399 chr19 36223932 36223932 G A rs747873093 KMT2B Nonsynonymous SNV R2161H 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 24.2 99400 chr16 88600241 88600241 C G rs780485801 ZFPM1 Synonymous SNV P625P 0.006 0.005 0.014 1 7 2 0.003 4 1 0 0 0 2.752 99401 chr14 93730243 93730243 C T rs773513406 BTBD7 Nonsynonymous SNV R69Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 99402 chr19 36370092 36370092 C T rs138562956 APLP1 Synonymous SNV Y610Y 0.008 0.003 0.01 0 9 1 0 3 0 0 0 0 15.19 99403 chr19 36393165 36393165 C T rs112961429 NFKBID Synonymous SNV G7G 0 0 0.01 0 0 0 0 3 0 0 0 0 6.218 99404 chr5 172513527 172513527 G A rs537391528 CREBRF Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 99405 chr19 36435564 36435564 G A rs2293756 LRFN3 Synonymous SNV T510T 0.018 0.018 0.017 1 21 7 0.003 5 0 0 1 0 5.028 99406 chr17 15234729 15234729 G A rs772195645 TEKT3 Synonymous SNV V58V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.166 99407 chr4 115792097 115792097 A G NDST4 Nonsynonymous SNV F516L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 99408 chr19 36515406 36515406 G A rs45605832 CLIP3 Synonymous SNV C270C 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 11.75 99409 chr17 59667915 59667915 C T rs755394204 NACA2 Synonymous SNV A209A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.45 99410 chr17 59668525 59668525 G A rs766395305 NACA2 Nonsynonymous SNV T6I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.439 99411 chr15 78562867 78562867 T C rs61752771 DNAJA4 Nonsynonymous SNV V54A 0.019 0.029 0.01 6 22 11 0.015 3 0 0 0 0 24.3 99412 chr16 708926 708926 G A WDR90 Nonsynonymous SNV A976T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 99413 chr17 6023753 6023753 G A rs575200606 WSCD1 Synonymous SNV T500T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 99414 chr16 88901751 88901751 G A GALNS Synonymous SNV D71D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 99415 chr17 60483955 60483955 C T EFCAB3 Synonymous SNV S201S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.995 99416 chr5 171471953 171471953 C T rs56355550 STK10 Nonsynonymous SNV C947Y 0.003 0 0.007 5 3 0 0.013 2 0 0 0 0 13.51 99417 chr17 2202380 2202380 C T SMG6 Nonsynonymous SNV C556Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23 99418 chr16 71509976 71509976 C T rs147578256 ZNF19 Synonymous SNV R158R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 15.89 99419 chr17 61574607 61574607 C T rs144242912 ACE Synonymous SNV I652I 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Benign/Likely benign 19.86 99420 chr5 171534801 171534801 G A rs3103586 STK10 Synonymous SNV F192F 0.009 0.008 0.01 9 11 3 0.023 3 0 0 0 0 13.54 99421 chr16 72821615 72821638 GCCACCGCCGCCGCCGCCGCCACT - rs750348888 ZFHX3 S2599_G2606del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 99422 chr4 124177315 124177315 G T rs35206443 SPATA5 Nonsynonymous SNV D828Y 0.009 0.016 0.014 2 11 6 0.005 4 0 0 1 0 Benign 21.5 99423 chr19 3759702 3759702 T C rs34690145 APBA3 Synonymous SNV P187P 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 0.049 99424 chr16 75263816 75263816 G A rs145141523 BCAR1 Synonymous SNV L526L 0.009 0.01 0.003 0 10 4 0 1 1 0 0 0 6.418 99425 chr16 75681865 75681865 A T rs201151665 TERF2IP Nonsynonymous SNV M29L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.37 99426 chr5 176638578 176638578 C T rs188847458 NSD1 Nonsynonymous SNV P1060S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.002 99427 chr17 27020764 27020764 C T rs750338570 SUPT6H Synonymous SNV V1228V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 16.02 99428 chr17 10397755 10397755 G A rs151180649 MYH1 Synonymous SNV D1861D 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 8.551 99429 chr17 6555458 6555458 G A rs370170034 C17orf100 Synonymous SNV S75S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.38 99430 chr4 141483476 141483476 G A rs148598275 UCP1 Nonsynonymous SNV T227I 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 Benign 24.6 99431 chr16 837175 837175 C T rs140807959 RPUSD1 Nonsynonymous SNV R104Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 99432 chr6 656895 656895 A C HUS1B Nonsynonymous SNV I17S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 99433 chr4 146601514 146601514 - A rs527501209 C4orf51 Frameshift insertion Q56Tfs*13 0.003 0 0 0 3 0 0 0 0 0 0 0 99434 chr4 147560458 147560472 GGCGGCGGCGGCGGC - rs771897159 POU4F2 G64_G68del 0.002 0 0 0 2 0 0 0 0 0 0 0 99435 chr4 147560467 147560472 GGCGGC - POU4F2 G67_G68del 0.001 0 0 0 1 0 0 0 0 0 0 0 99436 chr4 151000431 151000431 C T rs56388384 DCLK2 Synonymous SNV F84F 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 15.46 99437 chr17 67111065 67111065 G A rs138479597 ABCA6 Synonymous SNV I540I 0.006 0.008 0 2 7 3 0.005 0 0 1 0 0 7.087 99438 chr15 89195538 89195538 C A rs201468075 ISG20 Synonymous SNV I131I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 19.11 99439 chr17 67215805 67215805 A G rs199826576 ABCA10 Synonymous SNV H137H 0.006 0 0 0 7 0 0 0 0 0 0 0 0.003 99440 chr17 33430321 33430321 C T RAD51D Synonymous SNV L118L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 16.05 99441 chr19 41744449 41744449 C A AXL Synonymous SNV R89R 0 0 0.007 0 0 0 0 2 0 0 0 0 19.74 99442 chr15 40398284 40398284 C G rs370152086 BMF Nonsynonymous SNV E2Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 99443 chr15 40398285 40398285 C A rs373322892 BMF Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 99444 chr17 17697093 17697093 - CAGCAGCAG RAI1 Q291_A292insQQQ 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 99445 chr4 155505918 155505918 C T rs772074438 FGA Synonymous SNV P653P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.93 99446 chr17 3475489 3475489 C G TRPV1 Nonsynonymous SNV A720P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.9 99447 chr19 42399498 42399498 G A rs150244320 ARHGEF1 Synonymous SNV G285G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 99448 chr16 87344903 87344903 - T C16orf95 0.002 0 0 0 2 0 0 0 0 0 0 0 99449 chr17 27044322 27044322 C G rs372130208 RAB34 Synonymous SNV S135S 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 14.59 99450 chr17 27401176 27401176 G C rs1049848 TIAF1 Synonymous SNV L14L 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 8.639 99451 chr17 27425132 27425132 C T rs71369700 MYO18A Synonymous SNV K1327K 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 Benign 13.66 99452 chr17 7226432 7226432 T C NEURL4 Nonsynonymous SNV I810V 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 11.34 99453 chr15 41066625 41066625 C G rs117485355 DNAJC17 Nonsynonymous SNV V204L 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 24.4 99454 chr17 19641710 19641710 G A rs143130305 ALDH3A1 Nonsynonymous SNV R425C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 99455 chr6 19838348 19838348 C T ID4 Synonymous SNV P121P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.25 99456 chr15 41136885 41136885 C T rs11549914 SPINT1 Nonsynonymous SNV P45S 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 13.01 99457 chr15 41195357 41195357 C T rs189855795 VPS18 Nonsynonymous SNV R914W 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 24.8 99458 chr6 24578410 24578410 A G rs770284155 KIAA0319 Nonsynonymous SNV I433T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.148 99459 chr4 169799155 169799155 A G rs888513189 PALLD Nonsynonymous SNV H38R 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 4.262 99460 chr15 42182359 42182359 G C SPTBN5 Nonsynonymous SNV D143E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 99461 chr6 25726567 25726567 G A rs76591917 H2AC1 Synonymous SNV I63I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.939 99462 chr16 88744949 88744949 G T rs139375690 SNAI3 Synonymous SNV A262A 0.02 0.021 0.01 2 24 8 0.005 3 0 0 0 0 5.311 99463 chr4 175897719 175897719 G A rs201308805 ADAM29 Nonsynonymous SNV R348H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.1 99464 chr17 7320500 7320500 G A rs141186472 NLGN2 Synonymous SNV P630P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 5.325 99465 chr16 88788235 88788235 G A rs139051768 PIEZO1 Nonsynonymous SNV T1732M 0.014 0.016 0.02 6 17 6 0.015 6 0 0 0 0 25.8 99466 chr17 73263868 73263868 A C rs759605744 MIF4GD Nonsynonymous SNV C103G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.88 99467 chr6 26235068 26235068 C T rs200822000 H1-3 Nonsynonymous SNV G32R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.17 99468 chr17 73489958 73489958 A G rs141621199 TMEM94 Nonsynonymous SNV I800V 0.011 0.01 0.003 5 13 4 0.013 1 0 0 0 0 9.283 99469 chr17 7350250 7350250 G A rs75019736 CHRNB1 Synonymous SNV V114V 0.005 0.013 0 4 6 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.43 99470 chr15 43569068 43569068 T A rs150374715 TGM7 Synonymous SNV I655I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.93 99471 chr17 21319408 21319408 G A rs145578286 KCNJ12, KCNJ18 Nonsynonymous SNV D252N 0.012 0.008 0.007 2 14 3 0.005 2 0 0 0 0 10.47 99472 chr15 44673140 44673140 G T rs140734894 CASC4 Nonsynonymous SNV K346N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 99473 chr17 7359154 7359154 T C rs76927517 CHRNB1 Nonsynonymous SNV I420T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 16.29 99474 chr6 27420698 27420698 T C rs45553937 ZNF184 Nonsynonymous SNV N214D 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 0.014 99475 chr17 7366820 7366820 C T rs150914182 ZBTB4 Nonsynonymous SNV S494N 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 8.475 99476 chr17 7369804 7369806 GAA - rs201334543 ZBTB4 S111del 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 99477 chr6 25727337 25727337 C T rs61744293 HIST1H2BA Synonymous SNV F67F 0.025 0.013 0.01 6 29 5 0.015 3 0 0 0 0 11.32 99478 chr17 263343 263343 C A rs201973302 C17orf97 Nonsynonymous SNV P237T 0.021 0.016 0 8 25 6 0.021 0 3 0 0 0 0.001 99479 chr17 263345 263345 C T rs782702942 C17orf97 Synonymous SNV P237P 0.015 0.013 0 7 18 5 0.018 0 3 0 0 0 12.98 99480 chr19 4511724 4511724 - G PLIN4 Frameshift insertion G750Rfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 99481 chr19 4511725 4511725 - C PLIN4 Frameshift insertion G750Rfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 99482 chr16 89346774 89346774 G T rs117997391 ANKRD11 Nonsynonymous SNV P2059H 0.008 0.005 0.027 1 9 2 0.003 8 0 0 0 0 Benign 23.8 99483 chr16 89348038 89348038 G C rs113527563 ANKRD11 Nonsynonymous SNV P1638A 0.009 0.005 0.027 1 10 2 0.003 8 0 0 0 0 Benign 0.001 99484 chr6 26027456 26027456 - A rs535221714 H4C2 Stop gain K9* 0.011 0.008 0 3 13 3 0.008 0 0 0 0 0 99485 chr15 48936938 48936938 G A FBN1 Nonsynonymous SNV A10V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 99486 chr17 27424356 27424356 C T rs201296071 MYO18A Nonsynonymous SNV R1372Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 26.1 99487 chr16 89657642 89657642 G T CPNE7 Nonsynonymous SNV A426S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 21 99488 chr16 1397769 1397769 G A rs763086641 BAIAP3 Nonsynonymous SNV R955Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 99489 chr17 7412349 7412349 G A rs2228134 POLR2A Synonymous SNV T1184T 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 12.24 99490 chr4 187525581 187525581 A T rs373140687 FAT1 Nonsynonymous SNV S3500T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.002 99491 chr17 29298435 29298435 G A rs111902263 RNF135 Nonsynonymous SNV R115K 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 Benign 0.259 99492 chr17 10236446 10236446 G A rs572177108 MYH13 Nonsynonymous SNV R707W 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 34 99493 chr17 7483200 7483200 C T rs147152347 CD68 Nonsynonymous SNV T41M 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 26.7 99494 chr17 10355350 10355350 G A rs202186253 MYH4 Nonsynonymous SNV R1216W 0.008 0 0 3 9 0 0.008 0 0 0 0 0 27.1 99495 chr17 7484812 7484812 G A rs9901675 CD68 Nonsynonymous SNV A323T 0.028 0.031 0.031 10 33 12 0.026 9 0 0 0 0 5.723 99496 chr6 33626452 33626452 G A ITPR3 Synonymous SNV L125L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.29 99497 chr19 464080 464080 C T rs76592524 ODF3L2 Nonsynonymous SNV A212T 0.005 0.003 0.02 1 6 1 0.003 6 0 0 0 0 22.3 99498 chr17 10362635 10362635 T G rs200100694 MYH4 Nonsynonymous SNV E507A 0.008 0 0 3 9 0 0.008 0 0 0 0 0 26.6 99499 chr19 467740 467740 C T rs73503315 ODF3L2 Synonymous SNV P86P 0.026 0.016 0.051 7 30 6 0.018 15 0 0 1 1 9.605 99500 chr19 47156324 47156324 C T rs377403701 DACT3 Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 99501 chr17 33326423 33326423 G A rs368207452 LIG3 Synonymous SNV T737T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.48 99502 chr6 34935067 34935067 C G rs147758055 ANKS1A Synonymous SNV P83P 0.009 0.003 0.007 5 10 1 0.013 2 0 0 0 0 13.49 99503 chr15 58001256 58001256 G T rs150624904 GCOM1, POLR2M Nonsynonymous SNV G153V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.852 99504 chr17 33467022 33467022 T A rs117368217 NLE1 Nonsynonymous SNV T76S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.94 99505 chr5 914664 914664 T C rs35725571 TRIP13 Synonymous SNV L369L 0.026 0.013 0.02 7 31 5 0.018 6 1 0 0 0 0.059 99506 chr19 48183881 48183881 A C rs758392959 BICRA Nonsynonymous SNV Q485P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 99507 chr16 16291968 16291968 G A rs143487365 ABCC6 Synonymous SNV D416D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 6.453 99508 chr17 38906718 38906718 C T rs72821891 KRT25 Synonymous SNV K363K 0.012 0.005 0.01 5 14 2 0.013 3 0 0 0 0 Benign 13.35 99509 chr15 63131141 63131141 T C rs201254105 TLN2 Synonymous SNV D2487D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.152 99510 chr17 34072168 34072168 C T rs375770171 GAS2L2 Nonsynonymous SNV R783Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 99511 chr19 48565483 48565483 G A rs11564636 PLA2G4C-AS1 0.035 0.026 0.068 11 41 10 0.028 20 1 1 1 0 2.385 99512 chr17 1613129 1613130 GC - rs548581223 TLCD2 R76Lfs*19 0.005 0.003 0 0 6 1 0 0 0 0 0 0 99513 chr16 19083339 19083339 G C rs534109199 COQ7 Nonsynonymous SNV V17L 0 0 0 2 0 0 0.005 0 0 0 0 0 33 99514 chr19 49001608 49001608 G A rs377699902 LMTK3 Synonymous SNV D935D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 99515 chr15 64446698 64446698 G A rs143435068 SNX22 Synonymous SNV P191P 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 6.616 99516 chr17 39203187 39203187 G A rs540980507 KRTAP2-1 Synonymous SNV P111P 0.009 0.003 0 5 11 1 0.013 0 0 0 0 0 6.311 99517 chr16 2024635 2024635 G A rs138822494 TBL3 Nonsynonymous SNV V112M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 29.9 99518 chr6 39040693 39040693 C T rs10305474 GLP1R Synonymous SNV L189L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Benign 14.47 99519 chr17 17699619 17699619 C T rs139448147 RAI1 Synonymous SNV S1119S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.1 99520 chr17 1783909 1783909 C T rs202068855 RPA1 Nonsynonymous SNV R376W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 99521 chr19 49518896 49518896 C T rs755638439 RUVBL2 Nonsynonymous SNV T406M 0 0 0.007 0 0 0 0 2 0 0 0 0 25.3 99522 chr6 41617400 41617400 G A rs151018719 MDFI Synonymous SNV P40P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.88 99523 chr17 37571536 37571536 C T rs201065147 MED1 Nonsynonymous SNV V452I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 99524 chr6 41889505 41889505 C T rs144207756 BYSL Nonsynonymous SNV L69F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 99525 chr6 41903783 41903783 G A rs3218102 CCND3 Synonymous SNV A186A 0.02 0.016 0.01 6 24 6 0.015 3 1 0 0 0 0.065 99526 chr16 2147399 2147399 C T rs141138826 PKD1 Synonymous SNV A3441A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.61 99527 chr17 18881039 18881039 C T rs200038747 FAM83G Nonsynonymous SNV R647Q 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24.5 99528 chr16 2231297 2231297 C T rs3743868 CASKIN1 Nonsynonymous SNV R691Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.29 99529 chr17 42744210 42744210 A T rs8073475 MEIOC Nonsynonymous SNV M311L 0.013 0.008 0.007 3 15 3 0.008 2 0 0 0 0 0.738 99530 chr6 42832939 42832939 C T rs150491158 BICRAL Nonsynonymous SNV P999S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.68 99531 chr15 73002101 73002101 A G rs75295839 BBS4 Nonsynonymous SNV K46R 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 99532 chr6 42832979 42832979 A G rs138265432 BICRAL Nonsynonymous SNV K1012R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 99533 chr16 23456468 23456468 G C COG7 Nonsynonymous SNV D112E 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 28.2 99534 chr17 43893886 43893886 C T rs16940655 CRHR1 Nonsynonymous SNV A60V 0.006 0.005 0 0 7 2 0 0 3 0 0 0 Benign 22.5 99535 chr16 23634293 23634293 C T rs45551636 PALB2 Nonsynonymous SNV G998E 0.026 0.031 0.031 14 30 12 0.036 9 0 0 0 0 Benign/Likely benign 33 99536 chr6 43530053 43530053 T C rs61762967 XPO5 Synonymous SNV K314K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 99537 chr17 46136952 46136952 C T rs143499120 NFE2L1 Synonymous SNV A726A 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 14.54 99538 chr6 44361309 44361309 G A rs36064417 CDC5L Synonymous SNV E146E 0.005 0.005 0.02 1 6 2 0.003 6 0 0 0 0 15.36 99539 chr6 46657760 46657760 A G rs146398415 TDRD6 Nonsynonymous SNV H632R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.19 99540 chr5 41160334 41160334 G A rs748385522 C6 Nonsynonymous SNV P532S 0.009 0 0 1 10 0 0.003 0 0 0 0 0 23.9 99541 chr15 77474143 77474143 A G rs188207927 PEAK1 Synonymous SNV N42N 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.009 99542 chr16 28906184 28906184 A G rs376915313 ATP2A1 Synonymous SNV T318T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.262 99543 chr19 51914465 51914466 CT - rs747519469 SIGLEC10 S418Pfs*19 0.001 0 0.003 0 1 0 0 1 0 0 0 0 99544 chr5 52206063 52206063 A G rs893952932 ITGA1 Synonymous SNV S557S 0.011 0 0 4 13 0 0.01 0 0 0 0 0 6.887 99545 chr5 54456851 54456851 C T rs61742528 GPX8 Synonymous SNV D78D 0.017 0.005 0.003 6 20 2 0.015 1 0 0 0 0 11.36 99546 chr5 54635893 54635893 A G MTREX Nonsynonymous SNV I191V 0.011 0 0 3 13 0 0.008 0 0 0 0 0 25.5 99547 chr16 30596538 30596538 C T rs147854775 ZNF785 Stop gain W80X 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 33 99548 chr15 80472513 80472513 C T rs373285527 FAH Synonymous SNV N336N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.46 99549 chr15 80855554 80855554 C T rs141035056 ARNT2 Synonymous SNV Y430Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.8 99550 chr15 80869293 80869293 G A rs745941675 ARNT2 Nonsynonymous SNV G534R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 99551 chr17 27943024 27943024 A G rs143699377 CORO6 Nonsynonymous SNV L177P 0.006 0.008 0.01 3 7 3 0.008 3 0 0 0 0 27.4 99552 chr17 915963 915963 G A rs148177398 ABR Synonymous SNV T93T 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 12.68 99553 chr16 3165457 3165457 C T rs17134870 ZNF205 Synonymous SNV P53P 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 11.94 99554 chr17 48733355 48733355 T C rs947261958 ABCC3 Nonsynonymous SNV S70P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.6 99555 chr17 32906134 32906134 G T rs369313322 C17orf102 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.593 99556 chr6 57512789 57512791 GTG - PRIM2 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 99557 chr15 85370829 85370829 C A rs770674872 ALPK3 Synonymous SNV I99I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.8 99558 chr17 4994906 4994906 A G rs140154967 ZFP3 Nonsynonymous SNV H36R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.003 99559 chr15 85438333 85438333 G A rs116707209 SLC28A1 Nonsynonymous SNV R147H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.623 99560 chr5 71627167 71627167 C G rs139051450 PTCD2 Nonsynonymous SNV L145V 0.007 0.01 0.003 3 8 4 0.008 1 0 0 0 0 24.5 99561 chr18 21736505 21736505 T C rs138431678 CABYR Nonsynonymous SNV V249A 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 12.3 99562 chr19 53473390 53473390 G T rs1661960 ZNF702P 0 0 0.048 0 0 0 0 14 0 0 1 0 0.218 99563 chr16 3633407 3633407 T A SLX4 Nonsynonymous SNV Q1615L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.86 99564 chr17 41610577 41610577 G T rs35270564 ETV4 Nonsynonymous SNV H136N 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 20.7 99565 chr5 74959220 74959220 A G rs6869286 ANKDD1B Nonsynonymous SNV Q366R 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 24.4 99566 chr5 75001590 75001590 T A rs77025299 POC5 Nonsynonymous SNV E57D 0.003 0.013 0 7 4 5 0.018 0 0 0 0 0 19.24 99567 chr17 48457848 48457848 C G EME1 Nonsynonymous SNV Q521E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26 99568 chr17 35930906 35930906 T C SYNRG Nonsynonymous SNV M315V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 99569 chr5 78264851 78264851 G A rs966538858 ARSB Synonymous SNV R159R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.96 99570 chr5 78264854 78264854 G A rs1042478077 ARSB Synonymous SNV T158T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.298 99571 chr15 89401383 89401383 G A rs200762388 ACAN Nonsynonymous SNV S1856N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.5 99572 chr17 42945263 42945263 C T rs758219829 EFTUD2 Nonsynonymous SNV R319Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 99573 chr6 80717710 80717710 T C TTK Synonymous SNV S108S 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 6.843 99574 chr18 30050384 30050384 G C rs778849733 GAREM1 Nonsynonymous SNV P3R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.7 99575 chr15 90171684 90171684 G T rs145726393 KIF7 Nonsynonymous SNV P1333Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.34 99576 chr6 84925636 84925636 A C rs9449840 CEP162 Synonymous SNV L59L 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 0.002 99577 chr17 53848489 53848489 C T rs745946648 PCTP Synonymous SNV N22N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.7 99578 chr16 48204130 48204130 C T rs60681475 ABCC11 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 24.1 99579 chr5 79368152 79368152 G A rs749105558 THBS4 Nonsynonymous SNV R500Q 0.006 0 0 0 7 0 0 0 0 0 0 0 16.46 99580 chr17 3807308 3807308 C T rs139091182 P2RX1 Synonymous SNV T146T 0.004 0 0 0 5 0 0 0 0 0 0 0 20.2 99581 chr17 54543772 54543772 G A rs149688029 ANKFN1 Nonsynonymous SNV R541Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 25.5 99582 chr18 33779732 33779732 A C rs368226264 MOCOS Nonsynonymous SNV E129A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.5 99583 chr5 79734553 79734553 C A rs200360319 ZFYVE16 Synonymous SNV T683T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.06 99584 chr5 79741086 79741086 A G rs150392926 ZFYVE16 Synonymous SNV L862L 0.013 0.008 0.003 1 15 3 0.003 1 0 0 0 0 0.088 99585 chr16 50112898 50112898 G A rs150166531 HEATR3 Nonsynonymous SNV R106K 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 17.27 99586 chr18 40853609 40853609 G A rs143090156 SYT4 Nonsynonymous SNV S262L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 99587 chr18 40853969 40853969 C T rs16977447 SYT4 Nonsynonymous SNV S142N 0.004 0 0.007 0 5 0 0 2 0 0 0 0 13.54 99588 chr15 91795227 91795227 C T rs61731608 SV2B Synonymous SNV I59I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.432 99589 chr15 92459630 92459630 C A rs778070844 SLCO3A1 Synonymous SNV P196P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.85 99590 chr17 61723423 61723423 C T rs375250733 MAP3K3 Synonymous SNV N52N 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 13.25 99591 chr5 89949605 89949605 C T rs41305898 ADGRV1 Nonsynonymous SNV S1405F 0.01 0.01 0.01 5 12 4 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 99592 chr16 56510072 56510072 A C rs61745416 OGFOD1 Synonymous SNV P490P 0.011 0.013 0.014 4 13 5 0.01 4 0 0 0 0 0.135 99593 chr17 58235763 58235763 G A rs117704637 CA4 Nonsynonymous SNV V234I 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 Benign 9.806 99594 chr16 56902231 56902231 G A SLC12A3 Stop gain W151X 0.006 0.016 0 1 7 6 0.003 0 0 0 0 0 38 99595 chr17 63533624 63533624 C T rs141014640 AXIN2 Synonymous SNV T510T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign/Likely benign 14.72 99596 chr5 90012312 90012312 C T rs56329646 ADGRV1 Synonymous SNV D3071D 0.014 0.008 0.01 5 17 3 0.013 3 1 0 0 0 Conflicting interpretations of pathogenicity 14.97 99597 chr18 47906608 47906608 C T rs141075961 SKA1 Synonymous SNV N67N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.55 99598 chr16 1020919 1020919 C T rs762530099 LMF1 Nonsynonymous SNV G21E 0 0.005 0 0 0 2 0 0 0 0 0 0 0.009 99599 chr16 57099136 57099136 G A rs372278419 NLRC5 Synonymous SNV P1360P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.96 99600 chr19 56166505 56166505 - CGAGAATAAACAAGGTGAGGGCACCGGGGTCG rs778782285 U2AF2 Frameshift insertion E17Gfs*60 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 99601 chr17 649240 649240 G A rs373348504 GEMIN4 Synonymous SNV N681N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.013 99602 chr16 11219944 11219944 G A rs375812913 CLEC16A Nonsynonymous SNV R843Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 99603 chr17 65628333 65628333 G A rs934528120 PITPNC1 Synonymous SNV E147E 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 10.68 99604 chr17 3953068 3953068 G A rs34719232 ZZEF1 Synonymous SNV T1983T 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 9.907 99605 chr19 56888526 56888526 A T rs2304126 ZNF542P 0 0 0.024 0 0 0 0 7 0 0 0 0 6.523 99606 chr17 63923720 63923720 T G rs142910314 CEP112 Synonymous SNV R612R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 9.11 99607 chr16 1272676 1272676 C T rs137977482 TPSG1 Nonsynonymous SNV G163S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 99608 chr18 57006155 57006155 C T rs538087229 LMAN1 Nonsynonymous SNV R329Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 99609 chr6 117113365 117113365 G A rs41290854 GPRC6A Synonymous SNV C836C 0.023 0.013 0.01 14 27 5 0.036 3 2 0 0 0 1.556 99610 chr17 649761 649761 G A rs201980041 GEMIN4 Stop gain R508X 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 28 99611 chr6 117997007 117997007 G T rs761121795 NUS1 Nonsynonymous SNV K58N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 99612 chr6 118229057 118229057 G A rs200756021 SLC35F1 Synonymous SNV L56L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.96 99613 chr6 118606403 118606403 G A rs76108627 SLC35F1 Nonsynonymous SNV V302I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.24 99614 chr17 66039058 66039058 C T rs141483968 KPNA2 Synonymous SNV Y203Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.811 99615 chr18 60563131 60563131 A C rs112206318 PHLPP1 Nonsynonymous SNV E777D 0.01 0.01 0.003 3 12 4 0.008 1 0 0 0 0 12.64 99616 chr18 60985480 60985480 G A rs779104297 BCL2 Synonymous SNV D140D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.983 99617 chr17 71232766 71232766 C T rs779553335 C17orf80 Nonsynonymous SNV T382I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 6.639 99618 chr17 66925729 66925729 G A rs540491916 ABCA8 Synonymous SNV S304S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 5.388 99619 chr17 56356728 56356728 T G rs760201363 MPO Nonsynonymous SNV Y203S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 99620 chr16 1555591 1555591 C T rs74002291 TELO2 Nonsynonymous SNV R675W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 28.8 99621 chr17 40010070 40010070 G A rs34684777 KLHL11 Synonymous SNV D683D 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 2.471 99622 chr16 15813156 15813156 C T rs187172581 MYH11 Nonsynonymous SNV A1698T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 99623 chr16 68862204 68862204 C T rs61747636 CDH1 Synonymous SNV D703D 0.003 0.008 0 5 4 3 0.013 0 0 0 0 1 Benign/Likely benign 13.68 99624 chr19 58132736 58132736 C T ZNF134 Nonsynonymous SNV R417W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 99625 chr19 58152933 58152933 G A rs142923663 ZNF211 Nonsynonymous SNV R299H 0 0 0.007 2 0 0 0.005 2 0 0 0 0 21.2 99626 chr5 127419949 127419949 - GCGGCA SLC12A2 A107_G108insAA 0.002 0 0 0 2 0 0 0 0 0 0 0 99627 chr16 1706893 1706893 G A rs903823727 CRAMP1 Nonsynonymous SNV R712H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.754 99628 chr17 41131674 41131674 G A rs765407314 PTGES3L, PTGES3L-AARSD1 Synonymous SNV H48H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.695 99629 chr16 1838701 1838701 G A rs149087218 NUBP2 Nonsynonymous SNV R119H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.918 99630 chr16 1859351 1859351 G A rs140899100 HAGH Nonsynonymous SNV T287M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 99631 chr17 71232109 71232109 G A rs146486398 C17orf80 Nonsynonymous SNV R163Q 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 8.166 99632 chr16 18865077 18865077 G T rs780864002 SMG1 Synonymous SNV I1532I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.64 99633 chr16 19058478 19058478 C T rs142134127 TMC7 Synonymous SNV Y207Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.32 99634 chr19 58864821 58864821 C T rs776058655 A1BG-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.989 99635 chr16 76486623 76486623 G A rs8055272 CNTNAP4 Synonymous SNV S301S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 1 14.29 99636 chr17 61911078 61911078 C T rs759533186 SMARCD2 Nonsynonymous SNV D396N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 99637 chr6 142454996 142454996 C T rs148882702 GJE1 Nonsynonymous SNV P17S 0.014 0.008 0.017 14 16 3 0.036 5 0 0 0 1 23.3 99638 chr16 19710824 19710824 G A rs34342607 VPS35L Nonsynonymous SNV A790T 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 19.79 99639 chr16 81121237 81121237 G C rs8177908 GCSH Synonymous SNV L87L 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 1 Benign 9.241 99640 chr19 651692 651692 C T rs149302407 RNF126 Nonsynonymous SNV R121Q 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 99641 chr16 81121246 81121246 A G rs8177907 GCSH Synonymous SNV Y84Y 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 1 Benign 15.25 99642 chr19 6670070 6670070 C A rs143389888 TNFSF14 Nonsynonymous SNV S4I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.589 99643 chr6 146865011 146865011 G A rs748402738 RAB32 Nonsynonymous SNV A2T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 99644 chr5 136834164 136834164 G T rs143458987 SPOCK1 Synonymous SNV A28A 0.009 0.008 0.017 3 11 3 0.008 5 0 0 0 0 17.8 99645 chr17 4436698 4436698 G A rs149615209 SPNS2 Nonsynonymous SNV A417T 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 24.3 99646 chr17 73238508 73238508 T C rs52809447 GGA3 Nonsynonymous SNV E97G 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 29.9 99647 chr19 6924859 6924859 C T rs371078149 ADGRE1 Synonymous SNV A513A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.494 99648 chr17 65928126 65928126 G C rs768736219 BPTF Nonsynonymous SNV V2084L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 99649 chr17 45673794 45673794 T C NPEPPS Nonsynonymous SNV M501T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 99650 chr19 6972252 6972252 T C rs537610277 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.075 99651 chr16 2230812 2230812 G A rs185628064 CASKIN1 Nonsynonymous SNV P853S 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 0.034 99652 chr19 7441637 7441637 G C rs190276907 ARHGEF18 Nonsynonymous SNV V179L 0.002 0.005 0.01 4 2 2 0.01 3 0 1 0 0 4.738 99653 chr19 7533823 7533823 C T rs201984212 ARHGEF18 Nonsynonymous SNV A956V 0.002 0.008 0.007 4 2 3 0.01 2 0 1 0 0 Benign 7.991 99654 chr16 841174 841174 G T CHTF18 Nonsynonymous SNV C303F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 30 99655 chr5 140203463 140203463 C A rs142924665 PCDHA5 Synonymous SNV I701I 0.009 0 0 0 11 0 0 0 0 0 0 0 18.35 99656 chr6 151121958 151121958 C T rs144848429 PLEKHG1 Nonsynonymous SNV L206F 0.003 0 0 3 3 0 0.008 0 0 0 0 0 32 99657 chr16 24135232 24135232 G C rs149128755 PRKCB Nonsynonymous SNV G332A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.59 99658 chr5 140257329 140257329 G T rs200651425 PCDHA12 Nonsynonymous SNV V758L 0.01 0.013 0.014 6 12 5 0.015 4 0 0 0 0 10.07 99659 chr17 67303085 67303085 T C rs139696278 ABCA5 Nonsynonymous SNV N190S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.5 99660 chr17 74077781 74077781 C T rs148006416 ZACN Synonymous SNV L275L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.57 99661 chr5 141243692 141243692 G A rs370805685 PCDH1 Nonsynonymous SNV T356M 0.005 0 0 0 6 0 0 0 0 0 0 0 23.1 99662 chr16 2820438 2820438 C T SRRM2 Nonsynonymous SNV P2703S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 99663 chr5 141309559 141309559 G A rs373158872 DELE1 Nonsynonymous SNV G193S 0.005 0 0 0 6 0 0 0 0 0 0 0 3.16 99664 chr6 152671384 152671384 C G rs140054849 SYNE1 Nonsynonymous SNV Q3940H 0 0 0 4 0 0 0.01 0 0 0 0 0 16.84 99665 chr5 141335674 141335674 C G rs116711399 PCDH12 Synonymous SNV V581V 0.015 0.008 0.003 0 18 3 0 1 0 0 0 0 Benign 2.272 99666 chr16 2855032 2855032 A G rs746540699 PRSS41 Nonsynonymous SNV S286G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 99667 chr17 71232814 71232814 C A rs201828210 C17orf80 Nonsynonymous SNV P398H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.989 99668 chr19 8669978 8669978 G A ADAMTS10 Synonymous SNV A118A 0 0 0.007 0 0 0 0 2 0 0 0 0 6.54 99669 chr17 71377042 71377042 C T rs80234264 SDK2 Nonsynonymous SNV E1585K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 32 99670 chr6 158924036 158924036 T A TULP4 Nonsynonymous SNV V1114D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.91 99671 chr6 158924338 158924338 C T rs34395018 TULP4 Nonsynonymous SNV P1215S 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 8.082 99672 chr16 88501724 88501724 C T ZNF469 Nonsynonymous SNV R2616C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.11 99673 chr16 88504578 88504578 G A rs199610834 ZNF469 Nonsynonymous SNV G3567E 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.025 99674 chr19 8999520 8999520 G A rs866888569 MUC16 Nonsynonymous SNV T13552I 0.003 0.003 0.027 0 4 1 0 8 0 0 0 0 21.3 99675 chr19 8999521 8999521 T G rs868660041 MUC16 Nonsynonymous SNV T13552P 0.003 0.003 0.024 0 4 1 0 7 0 0 0 0 16.46 99676 chr5 148407945 148407945 C T rs17722227 SH3TC2 Synonymous SNV P450P 0.016 0.005 0.014 0 19 2 0 4 1 0 0 0 Benign 8.152 99677 chr19 8999527 8999527 T C rs865958386 MUC16 Nonsynonymous SNV I13550V 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 10.72 99678 chr19 8999528 8999528 G A rs773173867 MUC16 Synonymous SNV A13549A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.897 99679 chr16 30582827 30582827 A G ZNF688 Nonsynonymous SNV C42R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.64 99680 chr6 167417807 167417807 C T rs775004829 FGFR1OP Nonsynonymous SNV A119V 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 25.3 99681 chr6 167754382 167754382 C G rs571140155 TTLL2 Nonsynonymous SNV R332G 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 25.1 99682 chr6 160453991 160453991 G A rs148608443 IGF2R Nonsynonymous SNV D355N 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 18.2 99683 chr6 160471537 160471537 C T rs140441367 IGF2R Synonymous SNV N849N 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 13.33 99684 chr17 7558895 7558895 C T rs117613045 ATP1B2 Synonymous SNV N138N 0.012 0.013 0.014 2 14 5 0.005 4 0 0 0 0 11.28 99685 chr17 77075631 77075631 C T rs3744182 ENGASE Synonymous SNV D159D 0.043 0.034 0.082 23 51 13 0.059 24 1 0 2 2 17.32 99686 chr19 9087910 9087910 C T rs73495784 MUC16 Nonsynonymous SNV G1302E 0 0 0.01 0 0 0 0 3 0 0 0 0 3.88 99687 chr6 170594125 170594125 G A rs371411758 DLL1 Synonymous SNV N377N 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 Benign 8.131 99688 chr17 78087054 78087054 A G rs779338215 GAA Nonsynonymous SNV Q693R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.57 99689 chr16 3406454 3406454 C T rs138192595 OR2C1 Nonsynonymous SNV R172W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.1 99690 chr17 56565433 56565433 - CGGCCC rs550036152 HSF5 A67_E68insGA 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 99691 chr17 56572464 56572464 T A rs141669344 MTMR4 Synonymous SNV G1013G 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 10.91 99692 chr16 89355005 89355005 C T rs201683755 ANKRD11 Synonymous SNV A225A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.44 99693 chr17 56585539 56585539 A G rs141606202 MTMR4 Synonymous SNV I216I 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 5.873 99694 chr16 89598913 89598913 G T rs771782004 SPG7 Nonsynonymous SNV R398L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 32 99695 chr16 347168 347168 C T rs375543956 AXIN1 Nonsynonymous SNV A615T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 99696 chr17 56586112 56586112 A G rs138671342 MTMR4 Synonymous SNV F128F 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 8.994 99697 chr16 89735850 89735850 G A rs574253442 SPATA33 Nonsynonymous SNV R92Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 6.316 99698 chr17 56638900 56638900 G A rs114562657 TEX14 Nonsynonymous SNV L1380F 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 23.4 99699 chr16 3613598 3613598 G C rs773155391 NLRC3 Nonsynonymous SNV S447W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.27 99700 chr19 14139104 14139104 T C rs141281562 RLN3 Nonsynonymous SNV Y30H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 23.9 99701 chr17 56663295 56663295 C A rs55924999 TEX14 Synonymous SNV T985T 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 13.99 99702 chr17 56772522 56772522 G A rs61758784 RAD51C Nonsynonymous SNV A126T 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign/Likely benign 21.2 99703 chr17 57058175 57058175 A G rs142555673 PPM1E Nonsynonymous SNV N684S 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 11.79 99704 chr7 2416696 2416696 C G rs749705803 EIF3B Nonsynonymous SNV Q714E 0.003 0 0 0 4 0 0 0 0 0 0 0 6.788 99705 chr17 73918094 73918094 G A rs773552398 FBF1 Synonymous SNV H486H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.249 99706 chr17 10215944 10215944 G A rs141961168 MYH13 Nonsynonymous SNV R1438C 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 27.1 99707 chr19 14863150 14863150 G A rs62122600 ADGRE2 Synonymous SNV T535T 0.01 0.021 0.014 5 12 8 0.013 4 0 0 0 0 3.839 99708 chr1 10510376 10510376 C T rs370903835 CORT Synonymous SNV S32S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.11 99709 chr1 10720254 10720254 G T CASZ1 Nonsynonymous SNV T282K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.85 99710 chr19 14910440 14910440 G A rs62122646 OR7C1 Nonsynonymous SNV T170I 0.009 0.021 0.014 5 11 8 0.013 4 0 0 0 0 3.148 99711 chr16 4924334 4924334 C T rs143954303 UBN1 Synonymous SNV L641L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 10.94 99712 chr17 74921072 74921072 G T MGAT5B Synonymous SNV R361R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 99713 chr1 109804926 109804926 A G rs200366317 CELSR2 Synonymous SNV T1468T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.686 99714 chr16 5061201 5061201 - CGG SEC14L5 A637_L638insA 0 0.003 0 0 0 1 0 0 0 0 0 0 99715 chr7 6071028 6071028 G A rs190465246 ANKRD61 Nonsynonymous SNV G8R 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 2.043 99716 chr17 1546933 1546933 G A SCARF1 Synonymous SNV G198G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.458 99717 chr5 173035295 173035295 - CTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGG BOD1 Frameshift insertion Q121Hfs*23 0.003 0 0 0 4 0 0 0 0 0 0 0 99718 chr16 55880510 55880510 G A rs16955807 CES5A Synonymous SNV L477L 0.009 0.018 0.007 3 11 7 0.008 2 0 0 0 0 Benign 5.673 99719 chr1 111957692 111957692 C T rs781211867 OVGP1 Nonsynonymous SNV M477I 0 0 0.007 0 0 0 0 2 0 0 0 0 13.37 99720 chr16 56624854 56624854 G A rs142343514 MT3 Nonsynonymous SNV C67Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 24.7 99721 chr17 7678107 7678107 C A DNAH2 Nonsynonymous SNV T1511K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 99722 chr16 56912993 56912993 G A rs387907472 SLC12A3 Nonsynonymous SNV V397M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.97 99723 chr16 56977087 56977087 G C rs142816287 HERPUD1 Nonsynonymous SNV R353T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.213 99724 chr17 76831519 76831519 G T rs34398293 USP36 Synonymous SNV P106P 0.01 0.016 0.01 1 12 6 0.003 3 0 0 0 0 0.187 99725 chr1 113658961 113658961 G A rs375045494 LRIG2 Synonymous SNV T861T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 99726 chr7 15470672 15470672 G C AGMO Synonymous SNV S157S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.399 99727 chr17 80772793 80772793 C T rs201042677 TBCD Nonsynonymous SNV P434L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 99728 chr16 57397420 57397420 C T rs200657649 CCL22 Synonymous SNV L68L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.931 99729 chr17 181640 181640 C T rs146901044 LOC100506388 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 5.277 99730 chr16 57697396 57697396 C T rs200285648 ADGRG1 Nonsynonymous SNV R661W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 99731 chr16 57775675 57775675 C T rs782335579 KATNB1 Synonymous SNV G39G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.74 99732 chr17 78163570 78163570 G C CARD14 Nonsynonymous SNV E51Q 0.007 0 0 0 8 0 0 0 1 0 0 0 16.3 99733 chr17 8216519 8216519 G A ARHGEF15 Nonsynonymous SNV G294E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.002 99734 chr19 17628566 17628566 G A rs140587386 PGLS Synonymous SNV P182P 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 1.949 99735 chr17 7137558 7137558 G A rs146467021 DVL2 Synonymous SNV G8G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.26 99736 chr1 11845341 11845341 G A rs1037777339 C1orf167 Nonsynonymous SNV G1188S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 99737 chr17 78293196 78293196 G A rs118128489 RNF213 Synonymous SNV P1036P 0.005 0 0 0 6 0 0 0 0 0 0 0 4.669 99738 chr17 71468356 71468356 A G rs117687984 SDK2 Nonsynonymous SNV Y76H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 26.3 99739 chr5 179044065 179044065 G A HNRNPH1 Synonymous SNV S316S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.67 99740 chr16 58713874 58713874 T C SLC38A7 Nonsynonymous SNV T53A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 99741 chr1 120054208 120054208 C T rs6200 HSD3B1 Synonymous SNV V76V 0.006 0.005 0.027 2 7 2 0.005 8 0 0 0 0 7.817 99742 chr1 120054215 120054215 A G rs6201 HSD3B1 Nonsynonymous SNV I79V 0.006 0.005 0.027 2 7 2 0.005 8 0 0 0 0 0.001 99743 chr1 120054250 120054250 T A rs6202 HSD3B1 Synonymous SNV G90G 0.006 0.003 0.027 2 7 1 0.005 8 0 0 0 0 0.89 99744 chr1 120057002 120057002 T C rs6205 HSD3B1 Nonsynonymous SNV F286L 0.007 0.008 0.027 3 8 3 0.008 8 0 0 0 0 0.002 99745 chr1 120057085 120057085 G A rs33937873 HSD3B1 Synonymous SNV P313P 0.002 0 0.014 0 2 0 0 4 0 0 0 0 0.492 99746 chr1 120302546 120302546 C T HMGCS2 Nonsynonymous SNV G209D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 99747 chr1 120378702 120378702 A G rs10158823 NBPF7 Synonymous SNV V348V 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 0.408 99748 chr1 120458924 120458924 G A rs3795666 NOTCH2 Synonymous SNV L2141L 0.028 0.026 0.02 13 33 10 0.033 6 1 0 0 0 Benign 0.185 99749 chr17 79353602 79353602 G A LOC100130370 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.509 99750 chr16 67314392 67314392 G A PLEKHG4 Nonsynonymous SNV D149N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 99751 chr16 67876805 67876805 A G rs28434205 THAP11 Synonymous SNV Q116Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.002 99752 chr1 12836235 12836235 C T rs111797423 PRAMEF12 Synonymous SNV L279L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.55 99753 chr7 23239910 23239910 C G NUP42 Nonsynonymous SNV A270G 0 0.003 0 4 0 1 0.01 0 0 0 0 0 15.73 99754 chr18 254315 254315 A T rs61752532 THOC1 Synonymous SNV T187T 0.022 0.026 0.014 8 26 10 0.021 4 0 0 0 0 0.554 99755 chr19 19033544 19033544 A G rs116675472 DDX49 Nonsynonymous SNV N256S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.065 99756 chr17 73235123 73235123 G A rs145396768 GGA3 Nonsynonymous SNV R486C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 99757 chr17 263532 263532 A G rs111890321 C17orf97 Nonsynonymous SNV K300E 0.003 0.005 0.01 5 3 2 0.013 3 0 0 1 0 0.005 99758 chr16 68718593 68718593 C T CDH3 Synonymous SNV H375H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15 99759 chr16 69187541 69187541 C G UTP4 Nonsynonymous SNV H270D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.22 99760 chr1 146649632 146649632 G A rs587684842 PDIA3P1 0 0 0.007 0 0 0 0 2 0 0 0 0 8.542 99761 chr1 147126417 147126417 T C rs11541487 ACP6 Synonymous SNV L224L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.663 99762 chr17 27234686 27234686 A G rs749629069 PHF12 Synonymous SNV A821A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.21 99763 chr18 31684050 31684050 T C rs34881854 NOL4 Synonymous SNV K200K 0.024 0.023 0.024 8 28 9 0.021 7 0 0 0 0 1.22 99764 chr17 7399830 7399830 C T rs7219725 POLR2A Synonymous SNV Y145Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.77 99765 chr7 39379547 39379547 C T rs144939808 POU6F2 Nonsynonymous SNV P302L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 23.7 99766 chr18 29450960 29450960 T C rs74839052 TRAPPC8 Nonsynonymous SNV N729S 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 0.253 99767 chr17 9804408 9804408 T C rs752566286 RCVRN Nonsynonymous SNV K131E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 99768 chr18 29451024 29451024 G C rs16962530 TRAPPC8 Nonsynonymous SNV Q708E 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 12.07 99769 chr1 152193876 152193876 T G rs201281270 HRNR Nonsynonymous SNV M77L 0.003 0.01 0.014 0 3 4 0 4 0 0 0 0 23 99770 chr6 12121492 12121492 C T rs373558322 HIVEP1 Synonymous SNV D488D 0.003 0 0 0 3 0 0 0 0 0 0 0 11.64 99771 chr16 720704 720704 G A rs371656188 RHOT2 Synonymous SNV T172T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.35 99772 chr19 24310635 24310635 T C ZNF254 Synonymous SNV F526F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.037 99773 chr17 33491133 33491133 C T rs116362062 UNC45B Nonsynonymous SNV R367C 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 Benign 29.6 99774 chr16 72146374 72146374 C T rs137867582 DHX38 Nonsynonymous SNV T1221M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 34 99775 chr17 33586538 33586538 G A rs114439106 SLFN5 Nonsynonymous SNV V277I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 0.259 99776 chr18 12479826 12479826 T C rs754100028 SPIRE1 Nonsynonymous SNV M292V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 99777 chr18 43316532 43316532 C T rs34756616 SLC14A1 Synonymous SNV Y62Y 0.005 0.008 0 0 6 3 0 0 0 0 0 0 7.846 99778 chr17 33771851 33771851 A G rs9896246 SLFN13 Synonymous SNV V283V 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 2.636 99779 chr17 33771956 33771956 T C rs28520987 SLFN13 Synonymous SNV G248G 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 4.578 99780 chr17 33772163 33772163 T C rs28446134 SLFN13 Synonymous SNV V179V 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 0.245 99781 chr6 17669532 17669534 GAG - rs759824939 NUP153 P335del 0.005 0 0 0 6 0 0 0 0 0 0 0 99782 chr17 33772329 33772329 T C rs115352354 SLFN13 Nonsynonymous SNV N124S 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 0.001 99783 chr18 13018496 13018496 C T rs527606492 CEP192 Synonymous SNV S269S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 99784 chr18 33552862 33552862 C G rs61731892 C18orf21 Nonsynonymous SNV S31W 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 25.8 99785 chr17 33806544 33806544 T A rs116657840 SLFN12L Nonsynonymous SNV T229S 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 Benign 22.6 99786 chr1 154185058 154185058 A G C1orf43 Nonsynonymous SNV M76T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.782 99787 chr7 43917511 43917511 G A rs369607473 URGCP Synonymous SNV A508A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.583 99788 chr6 24403275 24403275 A G rs146005498 MRS2 Star tloss M1? 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26.8 99789 chr17 34122325 34122325 G A rs116250325 MMP28 Synonymous SNV H19H 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 3.489 99790 chr17 34264829 34264829 G A rs114355344 LYZL6 Synonymous SNV I77I 0.005 0.008 0.007 5 6 3 0.013 2 0 0 0 0 13.45 99791 chr17 76424616 76424616 C A rs35597902 DNAH17 Nonsynonymous SNV R4193L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 99792 chr1 155026981 155026981 G A rs768649953 ADAM15 Nonsynonymous SNV R214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.79 99793 chr18 21723194 21723194 C G rs144317760 CABYR Nonsynonymous SNV A39G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.46 99794 chr7 44558216 44558216 C T rs142301466 NPC1L1 Synonymous SNV S1062S 0.013 0.023 0 8 15 9 0.021 0 0 0 0 0 9.228 99795 chr18 21736278 21736278 T A rs150107485 CABYR Synonymous SNV P173P 0.011 0.013 0.007 3 13 5 0.008 2 0 0 0 0 22.1 99796 chr6 24701727 24701733 ACAGCAC - rs746069571 ACOT13 T103Mfs*3 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 99797 chr6 24701736 24701736 G C rs199520410 ACOT13 Nonsynonymous SNV V106L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.42 99798 chr18 52895549 52895549 C T rs76956936 TCF4 Synonymous SNV E481E 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign/Likely benign 18.06 99799 chr18 23895352 23895352 T C rs3826624 TAF4B Synonymous SNV I669I 0.006 0.008 0.017 1 7 3 0.003 5 0 0 0 0 9.885 99800 chr18 43307267 43307267 G A SLC14A1 Nonsynonymous SNV G11S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.38 99801 chr17 35310385 35310385 C T rs778866804 AATF Synonymous SNV T161T 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.62 99802 chr7 47988008 47988008 A G PKD1L1 Synonymous SNV S10S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.081 99803 chr17 35592004 35592004 G C rs140628687 ACACA Nonsynonymous SNV D949E 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 16.84 99804 chr7 48311550 48311550 C G ABCA13 Nonsynonymous SNV L763V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.515 99805 chr18 28742622 28742622 G A DSCAS 0.001 0 0 0 1 0 0 0 0 0 0 0 0.233 99806 chr18 47379895 47379895 G A rs145598498 MYO5B Nonsynonymous SNV T1382M 0.009 0.013 0.01 0 10 5 0 3 0 0 0 0 Likely benign 23 99807 chr16 80667027 80667027 G A rs201122416 CDYL2 Synonymous SNV R241R 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 10.3 99808 chr18 29435668 29435668 T A rs143956044 TRAPPC8 Nonsynonymous SNV R1097S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.01 99809 chr17 36666602 36666602 G C ARHGAP23 Nonsynonymous SNV E1290D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 24.1 99810 chr17 77711018 77711018 A G rs148504454 ENPP7 Nonsynonymous SNV N402S 0.011 0.01 0.01 4 13 4 0.01 3 0 0 0 0 18.59 99811 chr16 81927341 81927341 C T rs200149635 PLCG2 Synonymous SNV S338S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 18.33 99812 chr16 82131783 82131783 A T rs371619319 HSD17B2 Synonymous SNV A302A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 99813 chr18 60562374 60562374 G A rs376292612 PHLPP1 Nonsynonymous SNV V733I 0.003 0.008 0 0 3 3 0 0 0 0 0 0 19.23 99814 chr18 61256913 61256913 G A rs61751997 SERPINB13 Synonymous SNV T63T 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 Benign 3.94 99815 chr7 51096632 51096632 C T rs141355954 COBL Nonsynonymous SNV D721N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 99816 chr1 158651438 158651438 C T rs200716254 SPTA1 Nonsynonymous SNV R137H 0 0 0.007 0 0 0 0 2 0 0 0 0 10.1 99817 chr6 32628473 32628473 T C rs9273509 HLA-DQB1-AS1 0.008 0 0.02 0 9 0 0 6 3 0 3 0 0.188 99818 chr6 32628474 32628474 G C rs9273510 HLA-DQB1-AS1 0.008 0 0.02 0 9 0 0 6 3 0 3 0 0.315 99819 chr6 32628487 32628487 T C rs34750967 HLA-DQB1-AS1 0.016 0.016 0.027 0 19 6 0 8 8 3 4 0 0.394 99820 chr7 72952268 72952268 G A rs112679721 BCL7B Nonsynonymous SNV T114I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 99821 chr18 43490567 43490567 T A EPG5 Nonsynonymous SNV E1375V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 99822 chr1 160136430 160136430 G A rs149462135 ATP1A4 Nonsynonymous SNV G387D 0 0 0.007 0 0 0 0 2 0 0 0 0 30 99823 chr17 38975133 38975133 - GCTGCCGCCGCCGGA rs752563839 KRT10 S552_S553insGGGSS 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 99824 chr1 160141057 160141057 G A rs772331708 ATP1A4 Nonsynonymous SNV R503Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.128 99825 chr7 66098390 66098390 C T rs139585796 KCTD7 Synonymous SNV S91S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.38 99826 chr7 69064746 69064746 G C AUTS2 Nonsynonymous SNV G36A 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 18.57 99827 chr7 73183927 73183927 C T CLDN3 Synonymous SNV V151V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.26 99828 chr17 80039082 80039082 G A rs372065783 FASN Nonsynonymous SNV R2185W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 99829 chr7 79082361 79082361 G C rs146012909 MAGI2 Synonymous SNV P92P 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 Benign/Likely benign 13.02 99830 chr7 79833026 79833026 G A rs12721456 GNAI1 Synonymous SNV L104L 0.03 0.029 0.031 12 35 11 0.031 9 2 1 0 0 10.47 99831 chr19 38384897 38384897 C G WDR87 Nonsynonymous SNV Q482H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.5 99832 chr1 167339403 167339403 A G rs769338452 POU2F1 Synonymous SNV Q67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.96 99833 chr7 86813856 86813856 C T DMTF1 Nonsynonymous SNV R234C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 99834 chr19 3907888 3907888 G A rs766940653 ATCAY Nonsynonymous SNV R172Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 99835 chr7 80292467 80292467 A T rs141680676 CD36 Synonymous SNV T42T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 0.014 99836 chr6 41766432 41766432 - CCCCA rs201338884 USP49 Frameshift insertion D636Wfs*25 0.008 0.003 0.007 5 9 1 0.013 2 0 0 0 0 99837 chr7 81335040 81335040 G A rs751819844 HGF Nonsynonymous SNV T596M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.9 99838 chr7 89861917 89861917 G A rs201134508 STEAP2 Synonymous SNV P484P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.35 99839 chr7 91624931 91624931 A G rs78515732 AKAP9 Synonymous SNV E249E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.598 99840 chr19 10265044 10265044 G A rs61750052 DNMT1 Synonymous SNV F632F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 13.9 99841 chr7 91771917 91771917 G A rs115594215 CYP51A1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.011 99842 chr19 40433075 40433075 G A rs143912944 FCGBP Synonymous SNV L398L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.587 99843 chr1 17296361 17296361 C G rs79354809 CROCC Nonsynonymous SNV R1795G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 23.1 99844 chr16 89288548 89288548 A G rs201528958 ZNF778 Nonsynonymous SNV Q25R 0.013 0.005 0 1 15 2 0.003 0 0 0 0 0 Likely benign 9.5 99845 chr6 43274007 43274007 G A rs770111531 CRIP3 Synonymous SNV L105L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.63 99846 chr7 89894669 89894669 T G rs775416209 CFAP69 Synonymous SNV T137T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.004 99847 chr16 89346866 89346866 G A rs189297725 ANKRD11 Synonymous SNV P2028P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.724 99848 chr16 89348633 89348633 C T rs61743619 ANKRD11 Synonymous SNV K1439K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.61 99849 chr16 89357446 89357446 C T rs34016116 ANKRD11 Synonymous SNV T124T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.64 99850 chr19 41248583 41248583 A G rs139556174 C19orf54 Nonsynonymous SNV C99R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.134 99851 chr16 89778919 89778919 T C rs139626173 VPS9D1 Synonymous SNV L185L 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 1.332 99852 chr7 97823816 97823816 G A rs150067560 LMTK2 Nonsynonymous SNV E1347K 0.003 0 0 0 3 0 0 0 0 0 0 0 16.41 99853 chr17 39959629 39959629 C T rs781860343 P3H4 Nonsynonymous SNV A401T 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 0.662 99854 chr16 89986566 89986566 C T rs3212367 MC1R Synonymous SNV F300F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.79 99855 chr16 90020745 90020745 C G rs7194844 DEF8 Nonsynonymous SNV Q29E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.64 99856 chr17 40659622 40659622 A G rs112247526 ATP6V0A1 Nonsynonymous SNV T704A 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 14.92 99857 chr1 17727860 17727860 G A rs78393373 PADI6 Nonsynonymous SNV V671I 0.009 0.005 0.027 3 11 2 0.008 8 1 0 0 1 4.234 99858 chr1 177915498 177915498 G A rs10159204 SEC16B Nonsynonymous SNV A612V 0.032 0.031 0.01 15 37 12 0.038 3 0 0 0 0 6.305 99859 chr19 10087919 10087919 C T rs774594724 COL5A3 Nonsynonymous SNV D1092N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.7 99860 chr7 94989411 94989411 C G rs374135902 PON3 Nonsynonymous SNV K313N 0 0 0 2 0 0 0.005 0 0 0 0 0 4.219 99861 chr17 10263314 10263314 C T rs372245602 MYH13 Nonsynonymous SNV G203E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.5 99862 chr18 225395 225395 T C THOC1 Nonsynonymous SNV Y343C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.06 99863 chr18 23854777 23854777 A G rs199689253 TAF4B Nonsynonymous SNV N250D 0.003 0 0 0 4 0 0 0 0 0 0 0 0.067 99864 chr1 179064263 179064265 GAT - rs546012729 TOR3A M370del 0 0 0.007 0 0 0 0 2 0 0 0 0 99865 chr7 99128754 99128754 A G rs779831241 ZKSCAN5 Nonsynonymous SNV T395A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.514 99866 chr7 99673012 99673012 A G rs540537767 ZNF3 Nonsynonymous SNV L13P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.362 99867 chr1 17975148 17975148 C T rs141216141 ARHGEF10L Nonsynonymous SNV S494F 0.002 0 0.01 0 2 0 0 3 0 0 0 0 22.3 99868 chr17 41905134 41905134 C T rs757014415 MPP3 Nonsynonymous SNV A195T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 27 99869 chr18 28574150 28574150 T C rs114143100 DSC3 Synonymous SNV T894T 0.009 0.008 0.003 5 11 3 0.013 1 0 0 0 0 0.62 99870 chr19 10445994 10445994 G T rs768362006 ICAM3 Synonymous SNV R152R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.032 99871 chr17 42165906 42165906 G A rs781646746 HDAC5 Nonsynonymous SNV T484M 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 25.9 99872 chr1 181759614 181759614 A C rs35611740 CACNA1E Synonymous SNV P1921P 0.005 0.008 0.01 5 6 3 0.013 3 0 0 0 0 0.122 99873 chr6 53519740 53519740 C T rs141075656 KLHL31 Nonsynonymous SNV V111M 0.012 0.016 0.017 9 14 6 0.023 5 0 0 0 0 26.1 99874 chr18 8825096 8825096 G A rs113084211 MTCL1 Synonymous SNV P1196P 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 7.168 99875 chr17 16321057 16321057 G A rs370060704 TRPV2 Synonymous SNV A25A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.975 99876 chr19 12783860 12783860 T C WDR83 Nonsynonymous SNV C205R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 99877 chr19 10812375 10812375 G A rs779364075 QTRT1 Nonsynonymous SNV R80K 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 22.6 99878 chr19 12881782 12881782 T C rs372058207 HOOK2 Nonsynonymous SNV E289G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 29.2 99879 chr19 1007961 1007961 G A rs201937512 GRIN3B Nonsynonymous SNV A769T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 99880 chr19 11257030 11257030 G A rs78655751 SPC24 Nonsynonymous SNV T171M 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 3.218 99881 chr19 11304167 11304167 G A rs138305694 KANK2 Nonsynonymous SNV R197W 0.007 0.005 0.007 8 8 2 0.021 2 0 0 0 0 Benign 25.6 99882 chr19 11486354 11486354 C A rs146815699 SWSAP1 Nonsynonymous SNV L139I 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 32 99883 chr19 14077500 14077500 C T RFX1 Nonsynonymous SNV G599D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.06 99884 chr6 72806844 72806844 C T rs142196418 RIMS1 Synonymous SNV R119R 0.012 0.016 0.007 3 14 6 0.008 2 0 0 0 0 Benign 17.62 99885 chr17 17700038 17700040 AGG - rs149716029 RAI1 E1261del 0 0.003 0 0 0 1 0 0 0 0 0 0 99886 chr17 17720616 17720616 G A SREBF1 Synonymous SNV S496S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.314 99887 chr1 193065804 193065804 A C GLRX2 Nonsynonymous SNV L109R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 99888 chr1 19447882 19447882 G A rs34710232 UBR4 Synonymous SNV G3314G 0.012 0.008 0.02 3 14 3 0.008 6 0 0 0 0 Benign 12.22 99889 chr19 15067395 15067395 G A rs140480842 SLC1A6 Synonymous SNV A354A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.22 99890 chr17 4788287 4788287 G T MINK1 Nonsynonymous SNV E166D 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 20.5 99891 chr6 74476571 74476571 T C rs754000133 CD109 Synonymous SNV D397D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.673 99892 chr17 18167741 18167741 G A rs140019061 MIEF2 Nonsynonymous SNV R343Q 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 10.79 99893 chr6 75953463 75953463 T C rs201500909 COX7A2 Synonymous SNV S28S 0.01 0.003 0.003 4 12 1 0.01 1 0 0 0 0 9.898 99894 chr19 14037373 14037373 G A rs753360853 CC2D1A Nonsynonymous SNV V662M 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 29.8 99895 chr19 14091384 14091384 C A RFX1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 99896 chr19 4511761 4511761 C G rs371498414 PLIN4 Synonymous SNV V737V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.606 99897 chr19 14165752 14165752 C T rs956062963 PALM3 Synonymous SNV E178E 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 6.721 99898 chr19 15349965 15349965 G A rs775209814 BRD4 Synonymous SNV R1229R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.103 99899 chr6 79680545 79680545 A G rs756170400 PHIP Nonsynonymous SNV Y984H 0.005 0.005 0 0 6 2 0 0 0 0 0 0 28.4 99900 chr1 200528567 200528567 T A rs74368765 KIF14 Nonsynonymous SNV D924V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.49 99901 chr19 15383794 15383794 G A rs56036027 BRD4 Synonymous SNV N39N 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 9.124 99902 chr1 200816348 200816348 G T rs139334989 CAMSAP2 Nonsynonymous SNV A374S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.4 99903 chr17 4858745 4858745 A G ENO3 Synonymous SNV P194P 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 0.757 99904 chr6 82925967 82925967 T G rs143498384 IBTK Nonsynonymous SNV E476A 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 19.69 99905 chr1 201009084 201009091 GTAGCTCT - rs554596425 CACNA1S L1832Rfs*67 0 0 0.007 0 0 0 0 2 0 0 0 0 99906 chr1 201022387 201022387 C T rs138144724 CACNA1S Nonsynonymous SNV A1271T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 34 99907 chr18 55373755 55373755 T C rs34623939 ATP8B1 Synonymous SNV T82T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign/Likely benign 0.784 99908 chr6 88228550 88228550 T C RARS2 Nonsynonymous SNV I258V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 99909 chr19 16060061 16060061 A G OR10H4 Nonsynonymous SNV M82V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 99910 chr19 11327622 11327622 G T DOCK6 Nonsynonymous SNV L1288M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 99911 chr6 90397092 90397092 C T rs138233752 MDN1 Nonsynonymous SNV M3807I 0.012 0.005 0.003 2 14 2 0.005 1 0 0 0 0 22 99912 chr19 11485392 11485392 C T rs61745773 SWSAP1 Synonymous SNV G12G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.818 99913 chr17 53798140 53798140 A G rs141365411 TMEM100 Nonsynonymous SNV F98L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.65 99914 chr19 11598224 11598224 C T rs74552618 ZNF653 Nonsynonymous SNV E352K 0.013 0.018 0.01 9 15 7 0.023 3 0 0 0 0 25.1 99915 chr1 201972403 201972403 C T rs761451478 RNPEP Nonsynonymous SNV P199S 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 99916 chr19 15648720 15648720 C G rs79603814 CYP4F22 Nonsynonymous SNV S196C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 22.8 99917 chr19 12384105 12384105 C T rs144293271 ZNF44 Nonsynonymous SNV G290E 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 22.8 99918 chr19 17104239 17104239 T C rs151335087 CPAMD8 Nonsynonymous SNV H418R 0.026 0.029 0.014 6 30 11 0.015 4 0 0 0 0 12.08 99919 chr19 15918350 15918350 G A OR10H1 Synonymous SNV L166L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.697 99920 chr19 15918492 15918492 C T rs143305519 OR10H1 Nonsynonymous SNV G119D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.2 99921 chr1 202407103 202407103 G A rs375188362 PPP1R12B Nonsynonymous SNV R470H 0 0 0.007 0 0 0 0 2 0 0 0 0 34 99922 chr19 48306193 48306193 C T rs369852848 TPRX1 Synonymous SNV R25R 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 6.772 99923 chr19 13060116 13060116 G A rs754956151 RAD23A Nonsynonymous SNV R235Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 99924 chr19 17370531 17370531 G A rs150046287 USHBP1 Nonsynonymous SNV S196F 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 19.62 99925 chr1 203466231 203466231 C T rs372256499 OPTC Stop gain Q120X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 99926 chr1 204091459 204091459 T C rs61211343 SOX13 Nonsynonymous SNV V319A 0.014 0.01 0.014 4 17 4 0.01 4 0 0 0 0 0.004 99927 chr18 67795689 67795689 C T rs149233888 RTTN Synonymous SNV P104P 0.016 0.005 0 0 19 2 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 15.99 99928 chr19 17397494 17397501 TGTGTGTT - rs772310239 ANKLE1 L591Vfs*31 0.008 0.016 0.003 3 9 6 0.008 1 0 0 0 0 99929 chr7 103969525 103969525 C T rs185070516 LHFPL3 Synonymous SNV L100L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 12.03 99930 chr7 103969537 103969537 G T rs190167677 LHFPL3 Nonsynonymous SNV A104S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 25.9 99931 chr1 204168363 204168363 C T rs771376509 GOLT1A Nonsynonymous SNV G107D 0 0 0.007 0 0 0 0 2 0 0 0 0 16.42 99932 chr1 204380309 204380309 C A rs752024052 PPP1R15B Nonsynonymous SNV L77F 0 0 0.007 0 0 0 0 2 0 0 0 0 27 99933 chr1 204587373 204587373 T C rs779413652 LRRN2 Nonsynonymous SNV N583S 0 0 0.007 0 0 0 0 2 0 0 0 0 15.14 99934 chr19 1785264 1785264 C T ATP8B3 Synonymous SNV L1105L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.654 99935 chr1 20640969 20640969 G A rs114916291 VWA5B1 Synonymous SNV S149S 0.016 0.031 0.014 10 19 12 0.026 4 0 0 0 1 12.88 99936 chr19 15072978 15072978 T G SLC1A6 Synonymous SNV V257V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.263 99937 chr19 49424438 49424438 G A rs138035846 NUCB1 Nonsynonymous SNV E344K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 99938 chr7 110764950 110764950 T G rs773378794 LRRN3 Nonsynonymous SNV S708A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 25.9 99939 chr19 18376713 18376713 G A rs61740749 IQCN Nonsynonymous SNV S546F 0.009 0.01 0 0 10 4 0 0 0 0 0 0 4.177 99940 chr19 18377981 18377981 C G rs61740692 IQCN Synonymous SNV L123L 0.009 0.013 0 0 10 5 0 0 0 0 0 0 6.755 99941 chr6 121562641 121562641 C T rs191814118 TBC1D32 Nonsynonymous SNV A739T 0.005 0.003 0.01 4 6 1 0.01 3 0 0 0 0 Likely benign 26.4 99942 chr17 3392623 3392623 T C rs369805590 ASPA Synonymous SNV H207H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.87 99943 chr1 20977365 20977365 C G rs513414 PINK1-AS 0 0 0.075 0 0 0 0 22 0 0 11 0 Benign 2.402 99944 chr1 209805977 209805977 C T rs568932560 LAMB3 Nonsynonymous SNV R258H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 23.2 99945 chr19 15852429 15852429 T C rs768791405 OR10H3 Nonsynonymous SNV V76A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 99946 chr19 50119461 50119461 G A PRR12 Nonsynonymous SNV A1828T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 99947 chr19 19136830 19136830 C T rs146937897 SUGP2 Synonymous SNV R109R 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 12.9 99948 chr19 19168369 19168369 C T rs370350313 ARMC6 Nonsynonymous SNV R455W 0 0.005 0 3 0 2 0.008 0 0 0 0 0 31 99949 chr7 128484726 128484726 C T rs753825183 FLNC Synonymous SNV G1069G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.635 99950 chr19 19648155 19648155 C T rs200289592 YJEFN3 Nonsynonymous SNV S191L 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 13.46 99951 chr18 9954058 9954058 T C rs3025557 VAPA Synonymous SNV G200G 0.02 0.023 0.014 13 24 9 0.033 4 0 0 0 0 0.441 99952 chr7 127954847 127954847 G A rs61733106 RBM28 Nonsynonymous SNV A531V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.27 99953 chr7 127975992 127975992 C G rs113178095 RBM28 Nonsynonymous SNV D99H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.596 99954 chr1 212459470 212459470 G C rs140143936 PPP2R5A Synonymous SNV P6P 0.01 0.013 0.02 2 12 5 0.005 6 0 0 0 0 11.99 99955 chr19 16860750 16860750 G A rs150877756 NWD1 Nonsynonymous SNV V227M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.9 99956 chr17 6674069 6674069 G A rs143903776 XAF1 Synonymous SNV T135T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 5.882 99957 chr19 19737477 19737477 G A rs762337993 LPAR2 Nonsynonymous SNV A206V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.027 99958 chr19 19757073 19757073 A C rs74497425 ATP13A1 Nonsynonymous SNV F1063L 0.012 0.01 0.014 9 14 4 0.023 4 0 0 0 0 Benign 9.145 99959 chr19 16973724 16973724 G A rs143287291 SIN3B Synonymous SNV S432S 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 Benign 13.59 99960 chr17 3627347 3627347 C T rs34758926 HASPIN Nonsynonymous SNV R40W 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 27.8 99961 chr1 214505410 214505411 CT - SMYD2 S330Cfs*3 0 0 0.007 0 0 0 0 2 0 0 0 0 99962 chr19 21565898 21565898 G A rs185176531 ZNF738 Nonsynonymous SNV V184I 0.014 0.016 0 3 16 6 0.008 0 0 0 0 0 4.086 99963 chr19 17036087 17036087 C T rs2250918 CPAMD8 Nonsynonymous SNV V1156I 0.004 0 0.007 0 5 0 0 2 1 0 0 0 9.695 99964 chr7 134135621 134135621 T C rs2229542 AKR1B1 Nonsynonymous SNV K90E 0.017 0.005 0.017 3 20 2 0.008 5 0 0 0 0 15.22 99965 chr19 17049245 17049245 G A rs61133226 CPAMD8 Synonymous SNV V935V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.426 99966 chr19 51214697 51214697 G A rs114410784 SHANK1 Synonymous SNV Y336Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.19 99967 chr7 128586006 128586006 C T rs138098174 IRF5 Synonymous SNV R101R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 12.17 99968 chr19 10129519 10129519 G A rs760916151 RDH8 Synonymous SNV V125V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.31 99969 chr19 17122423 17122423 C A rs201463563 CPAMD8 Nonsynonymous SNV V138L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.64 99970 chr17 36892408 36892408 C T rs568535028 PCGF2 Nonsynonymous SNV E198K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 99971 chr19 51330356 51330356 G A rs61751959 KLK15 Nonsynonymous SNV R86W 0.002 0 0 0 2 0 0 0 0 0 0 0 25 99972 chr7 129946635 129946635 T A rs34549855 CPA4 Synonymous SNV S167S 0.004 0 0.003 2 5 0 0.005 1 1 0 0 0 10.77 99973 chr6 135524414 135524414 C T rs114303912 MYB Synonymous SNV L501L 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 12.89 99974 chr19 17338716 17338716 G C rs151254361 OCEL1 Nonsynonymous SNV G174R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 99975 chr19 1050996 1050996 G A rs74176364 ABCA7 Nonsynonymous SNV A877T 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 19.47 99976 chr6 138725657 138725657 C T rs534012762 HEBP2 Nonsynonymous SNV P9S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.003 99977 chr7 134127495 134127495 G A rs116049631 AKR1B1 Synonymous SNV F168F 0.014 0.013 0 5 16 5 0.013 0 0 0 0 0 Likely benign 11.78 99978 chr19 2425145 2425145 C T rs77360217 TMPRSS9 Synonymous SNV L921L 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 9.958 99979 chr19 10671694 10671694 A C rs142099787 KRI1 Nonsynonymous SNV D216E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 99980 chr17 38928075 38928075 G A rs143352947 KRT26 Synonymous SNV Y97Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.285 99981 chr1 2234780 2234780 C T rs200160702 SKI Synonymous SNV P384P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.82 99982 chr19 17766970 17766970 C A rs764050434 UNC13A Nonsynonymous SNV E335D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 99983 chr1 224517810 224517810 C T rs150333766 NVL Nonsynonymous SNV G7E 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 0.09 99984 chr19 17918841 17918841 G A rs139368299 B3GNT3 Synonymous SNV T75T 0.009 0.008 0.024 3 10 3 0.008 7 0 0 0 0 9.894 99985 chr19 2808253 2808253 C T rs760615655 THOP1 Synonymous SNV Y422Y 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.15 99986 chr19 11687621 11687621 C T rs141651325 ACP5 Nonsynonymous SNV R100H 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Likely benign 13.35 99987 chr1 225268427 225268427 A T rs115240788 DNAH14 Nonsynonymous SNV H1038L 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 12.31 99988 chr19 17994766 17994766 G T rs761255218 SLC5A5 Synonymous SNV S479S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.561 99989 chr19 11833223 11833223 G A rs773804721 ZNF823 Stop gain R194X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 99990 chr7 142637478 142637478 C T rs143475597 LLCFC1 Nonsynonymous SNV S83F 0.009 0.005 0.02 4 10 2 0.01 6 0 0 0 0 27.3 99991 chr7 138851618 138851618 G A rs13225917 TTC26 Nonsynonymous SNV D179N 0.009 0 0 3 10 0 0.008 0 0 0 0 0 26.4 99992 chr1 225512481 225512481 G A rs200310916 DNAH14 Nonsynonymous SNV V3224I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 99993 chr6 149846306 149846306 G C rs17710991 PPIL4 Synonymous SNV L281L 0.013 0.013 0.003 3 15 5 0.008 1 0 0 0 0 10.68 99994 chr19 30433556 30433556 C G rs200928000 URI1 Synonymous SNV R34R 0.012 0.013 0.014 8 14 5 0.021 4 1 0 0 0 14.48 99995 chr7 140244367 140244383 CAAGAGCGACTGTCATT - rs764624684 DENND2A N788Dfs*19 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 99996 chr19 33696439 33696439 G A rs754749626 LRP3 Nonsynonymous SNV G255S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.3 99997 chr7 143141296 143141296 T G TAS2R60 Nonsynonymous SNV S251A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 14.24 99998 chr19 34818909 34818909 G T rs760996389 KIAA0355 Nonsynonymous SNV E319D 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 14.44 99999 chr19 34819028 34819028 C T rs749175436 KIAA0355 Nonsynonymous SNV S359L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.1 100000 chr19 14040470 14040470 C T rs376443152 CC2D1A Nonsynonymous SNV R903W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 27.4 100001 chr6 151152390 151152390 G A rs79596384 PLEKHG1 Nonsynonymous SNV A676T 0.005 0.008 0 4 6 3 0.01 0 0 1 0 0 0.007 100002 chr19 18779243 18779243 G A rs756317850 KLHL26 Nonsynonymous SNV E375K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 100003 chr19 19243483 19243483 G A rs145567349 TMEM161A Nonsynonymous SNV T90M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 100004 chr1 228452016 228452016 G C rs185523702 OBSCN Nonsynonymous SNV E1595D 0.007 0.01 0.01 4 8 4 0.01 3 0 0 0 1 0.004 100005 chr19 19349163 19349163 C T rs375854561 NCAN Nonsynonymous SNV R1118C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 100006 chr1 228464303 228464303 G T rs75280352 OBSCN Nonsynonymous SNV A2125S 0.009 0.013 0.017 4 11 5 0.01 5 0 0 0 1 14.82 100007 chr19 36002394 36002405 GCCACTGCTGCT - rs776810027 DMKN S276_G279del 0.009 0.018 0.007 1 10 7 0.003 2 0 0 0 0 100008 chr19 34884917 34884917 C T GPI Synonymous SNV H308H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 8.114 100009 chr19 36033433 36033433 G A rs45513793 GAPDHS Synonymous SNV A194A 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 3.597 100010 chr19 36047827 36047827 G A rs61749491 ATP4A Synonymous SNV T619T 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 Benign 10.2 100011 chr7 148950691 148950691 G A rs117392089 ZNF212 Nonsynonymous SNV E225K 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 4.804 100012 chr19 53410218 53410218 G C rs145623595 ZNF888 Nonsynonymous SNV L453V 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.37 100013 chr19 21300992 21300992 C T rs144995791 ZNF714 Nonsynonymous SNV H508Y 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 0.001 100014 chr7 149506188 149506196 CAGGAACCG - SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 100015 chr7 149506198 149506198 A T SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 100016 chr6 155761194 155761194 C A NOX3 Nonsynonymous SNV M188I 0.003 0 0 0 4 0 0 0 0 0 0 0 4.659 100017 chr19 36365493 36365493 G A rs781164817 APLP1 Nonsynonymous SNV A382T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27 100018 chr19 36530596 36530637 GGGTGCTTCGGGTCCTCCGCTGACTCTGGAAGACAAGGCATG - THAP8 S93Rfs*30 0.002 0.005 0 0 2 2 0 0 0 0 0 0 100019 chr19 371223 371223 C T THEG Stop gain W221X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 39 100020 chr6 159654235 159654235 C T FNDC1 Synonymous SNV S897S 0.004 0 0 5 5 0 0.013 0 0 0 0 0 14.21 100021 chr17 74475318 74475318 C T rs142642633 RHBDF2 Nonsynonymous SNV G105E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 15.08 100022 chr17 41341625 41341625 C T rs36054317 NBR1 Synonymous SNV N146N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.67 100023 chr19 54579584 54579603 TTCTTTCTTTCTTTCATTCA - rs771056907 TARM1 0.019 0.013 0 9 22 5 0.023 0 5 1 0 0 100024 chr17 42476576 42476576 G A rs118151586 GPATCH8 Nonsynonymous SNV R879W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.7 100025 chr19 2807027 2807027 G A rs759668387 THOP1 Nonsynonymous SNV S288N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 100026 chr1 236687504 236687504 C T rs550734969 LGALS8-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.788 100027 chr19 3275960 3275960 G T rs755748843 CELF5 Synonymous SNV R167R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 100028 chr1 23698120 23698120 C G rs754984 ZNF436-AS1 0 0 0.105 0 0 0 0 31 0 0 0 0 4.71 100029 chr1 238049135 238049135 A G rs373246072 ZP4 Synonymous SNV N297N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 100030 chr17 76887474 76887474 T C CEP295NL Nonsynonymous SNV Q371R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 100031 chr6 167755046 167755046 C G TTLL2 Nonsynonymous SNV A553G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 100032 chr19 33697939 33697939 C T rs759165455 LRP3 Nonsynonymous SNV R591C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 100033 chr17 7752322 7752322 C G rs201070294 KDM6B Nonsynonymous SNV P906A 0.006 0.01 0.003 6 7 4 0.015 1 0 0 0 0 17.57 100034 chr19 38817951 38817951 G A KCNK6 Nonsynonymous SNV D284N 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 25.9 100035 chr17 7761470 7761470 G A rs752656466 CYB5D1 Synonymous SNV L6L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 10.67 100036 chr19 34935999 34935999 A C rs368660163 UBA2 Synonymous SNV G248G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.68 100037 chr1 2434171 2434171 C T rs181061314 PLCH2 Synonymous SNV G1067G 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 10.7 100038 chr1 2435854 2435854 C T rs778448952 PLCH2 Synonymous SNV S1151S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.567 100039 chr19 3959456 3959456 C T rs759423522 DAPK3 Synonymous SNV E336E 0.011 0.01 0 0 13 4 0 0 0 0 0 0 12.12 100040 chr19 18121418 18121418 G A rs79985971 ARRDC2 Synonymous SNV E345E 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 2.349 100041 chr8 3216779 3216779 G A rs117715350 CSMD1 Synonymous SNV L1067L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.311 100042 chr7 932053 932053 C T rs41273984 GET4 Synonymous SNV D248D 0.02 0.005 0.014 7 24 2 0.018 4 0 0 0 0 Benign 7.763 100043 chr19 40276398 40276398 C T rs558962748 LEUTX Nonsynonymous SNV R44W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.254 100044 chr19 40366245 40366245 G A rs146036971 FCGBP Synonymous SNV G4663G 0.013 0.013 0.014 5 15 5 0.013 4 0 0 0 0 7.233 100045 chr7 4829528 4829528 C T rs372922535 AP5Z1 Synonymous SNV Y435Y 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.322 100046 chr19 36224263 36224263 G A KMT2B Synonymous SNV P2271P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.59 100047 chr7 4841521 4841521 G C rs140056635 RADIL Nonsynonymous SNV L869V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.002 100048 chr7 4874495 4874495 C T rs750710090 RADIL Nonsynonymous SNV G387R 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.233 100049 chr19 39914225 39914225 G C rs201914405 PLEKHG2 Nonsynonymous SNV R785P 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 Likely benign 33 100050 chr19 19646477 19646477 - CATC YJEFN3 Frameshift insertion P180Hfs*20 0.002 0 0 0 2 0 0 0 0 0 0 0 100051 chr7 4876179 4876179 G A rs202086015 RADIL Nonsynonymous SNV P198L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 1.962 100052 chr19 41704730 41704730 G C rs145165448 CYP2S1 Synonymous SNV G257G 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 1.586 100053 chr17 80017902 80017902 C T rs73999366 DUS1L Nonsynonymous SNV G364S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 0.008 100054 chr19 21606464 21606464 A G rs887706849 ZNF493 Nonsynonymous SNV T207A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 100055 chr19 3734357 3734357 G C TJP3 Nonsynonymous SNV A304P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 100056 chr8 16859261 16859261 A C FGF20 Nonsynonymous SNV L94R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.26 100057 chr7 5545119 5545119 C T rs34161358 FBXL18 Nonsynonymous SNV R54H 0.014 0.01 0 2 17 4 0.005 0 0 0 0 0 13.81 100058 chr8 17142078 17142078 A C rs199771945 VPS37A Nonsynonymous SNV K331Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.9 100059 chr17 80280213 80280213 C A rs17855476 SECTM1 Nonsynonymous SNV V191F 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.095 100060 chr19 23927321 23927321 C G rs939991447 ZNF681 Nonsynonymous SNV G344A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 100061 chr19 23927447 23927447 A G rs1009833226 ZNF681 Nonsynonymous SNV I302T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.781 100062 chr19 42409336 42409336 T G rs41307033 ARHGEF1 Synonymous SNV A720A 0.009 0.021 0.01 1 10 8 0.003 3 0 0 0 0 9.598 100063 chr19 24116597 24116597 C T rs549866302 ZNF726 Nonsynonymous SNV T560I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 100064 chr17 8093118 8093118 G T rs748615756 BORCS6 Nonsynonymous SNV A114E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 100065 chr19 38939100 38939100 C T rs145943283 RYR1 Synonymous SNV D302D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 15.95 100066 chr19 38964109 38964109 T C rs16972636 RYR1 Synonymous SNV L1286L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 0.438 100067 chr19 4325527 4325527 G A rs144306660 STAP2 Nonsynonymous SNV T282I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.036 100068 chr19 38964127 38964127 C A rs143750836 RYR1 Synonymous SNV L1292L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 13.76 100069 chr19 38964275 38964275 A G rs34694816 RYR1 Nonsynonymous SNV S1342G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 9.927 100070 chr19 38964306 38964306 C G rs112105381 RYR1 Nonsynonymous SNV A1352G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 16.43 100071 chr19 38976629 38976629 G T rs35566549 RYR1 Synonymous SNV S1778S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 0.779 100072 chr19 38995998 38995998 C G rs35180584 RYR1 Nonsynonymous SNV T2787S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 20.8 100073 chr19 39008195 39008195 C T rs142610625 RYR1 Synonymous SNV S3294S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 10.77 100074 chr19 39109944 39109944 C A rs2232996 EIF3K Synonymous SNV G12G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.55 100075 chr19 39214636 39214636 G A rs150183570 ACTN4 Synonymous SNV A537A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.87 100076 chr17 5993656 5993656 C T rs142468752 WSCD1 Synonymous SNV A186A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.91 100077 chr19 58899534 58899534 G A rs142305058 RPS5 Synonymous SNV A10A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.098 100078 chr17 61498812 61498812 G A rs781713644 TANC2 Synonymous SNV L1823L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.934 100079 chr1 28241156 28241156 T A rs767675180 RPA2 Nonsynonymous SNV R6W 0 0 0.01 0 0 0 0 3 0 0 0 0 7.471 100080 chr18 10705417 10705417 G A rs529388684 PIEZO2 Synonymous SNV D1859D 0.002 0.005 0 6 2 2 0.015 0 0 0 0 0 Likely benign 9.302 100081 chr19 42857170 42857170 T A rs372361923 MEGF8 Synonymous SNV P1080P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.022 100082 chr19 34985523 34985523 G A rs747062139 WTIP Nonsynonymous SNV R355H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.2 100083 chr19 58982427 58982427 A G rs773250524 ZNF324 Nonsynonymous SNV R190G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 100084 chr19 35434309 35434309 C T ZNF30 Nonsynonymous SNV P148S 0.003 0 0 0 3 0 0 0 0 0 0 0 20.8 100085 chr1 31742069 31742069 C T rs772490006 SNRNP40 Nonsynonymous SNV R265Q 0 0 0.007 0 0 0 0 2 0 0 0 0 34 100086 chr8 23177497 23177497 G A rs78624774 LOXL2 Synonymous SNV S457S 0.009 0.01 0.01 3 11 4 0.008 3 0 0 0 0 15.24 100087 chr19 35551567 35551567 C T rs148413093 HPN Synonymous SNV A219A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.45 100088 chr8 23540375 23540375 C G rs199879315 NKX3-1 Nonsynonymous SNV G10R 0.007 0.008 0 0 8 3 0 0 1 0 0 0 24.1 100089 chr1 32042996 32042996 G A TINAGL1 Nonsynonymous SNV D83N 0 0 0.007 0 0 0 0 2 0 0 0 0 34 100090 chr17 64873531 64873531 G A rs71379998 CACNG5 Synonymous SNV A27A 0.009 0.016 0.027 3 10 6 0.008 8 0 0 0 0 9.449 100091 chr19 40900763 40900763 G A rs147826200 PRX Nonsynonymous SNV P1166S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.251 100092 chr18 21743237 21743237 T C rs770561744 OSBPL1A Nonsynonymous SNV H407R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.02 100093 chr8 25237849 25237849 A G rs148109382 DOCK5 Nonsynonymous SNV K1322R 0.008 0 0 0 9 0 0 0 1 0 0 0 27.7 100094 chr1 33777670 33777673 AGTC - rs201715975 A3GALT2 T106Sfs*4 0.02 0.021 0.02 11 24 8 0.028 6 0 0 0 0 100095 chr19 35940936 35940936 G A rs758560714 FFAR2 Nonsynonymous SNV R107H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 100096 chr17 66274362 66274362 C T rs369041151 SLC16A6 Nonsynonymous SNV V34I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.74 100097 chr8 27373270 27373270 C T rs149027622 EPHX2 Synonymous SNV S191S 0.007 0.01 0 7 8 4 0.018 0 0 0 0 0 15.14 100098 chr1 36859422 36859422 C G LSM10 Synonymous SNV R103R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.49 100099 chr19 36206203 36206203 T A rs146855074 ZBTB32 Nonsynonymous SNV S225R 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 9.887 100100 chr7 31920457 31920457 T G rs375138042 PDE1C Nonsynonymous SNV K49Q 0.004 0 0 0 5 0 0 0 0 0 0 0 27.9 100101 chr1 36932047 36932047 C T rs146617729 CSF3R Nonsynonymous SNV E808K 0.006 0 0.017 3 7 0 0.008 5 0 0 0 0 Benign/Likely benign 27.7 100102 chr8 28928283 28928283 C T rs1041378756 KIF13B Nonsynonymous SNV G1740D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 100103 chr19 44777087 44777087 G A rs140047619 ZNF233 Nonsynonymous SNV E92K 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 8.826 100104 chr1 38188786 38188786 C A EPHA10 Synonymous SNV L629L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.31 100105 chr8 36664952 36664952 C T rs201595689 KCNU1 Stop gain R214X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 100106 chr19 42713983 42713983 G A rs775992642 DEDD2 Nonsynonymous SNV P153L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 100107 chr19 42891607 42891607 G A CNFN Nonsynonymous SNV P45L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 100108 chr19 4363393 4363393 G T SH3GL1 Nonsynonymous SNV D186E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 100109 chr19 44008146 44008146 G T rs750046200 PHLDB3 Nonsynonymous SNV A42E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 100110 chr17 71257108 71257108 C A rs199773733 CPSF4L Nonsynonymous SNV V40L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 100111 chr8 37730317 37730317 T C rs147242639 RAB11FIP1 Nonsynonymous SNV E668G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.602 100112 chr19 4511833 4511833 C T rs756691386 PLIN4 Synonymous SNV G713G 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 8.699 100113 chr8 54896943 54896943 A G TCEA1 Nonsynonymous SNV F199L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 100114 chr1 43108172 43108172 C A rs145206338 CCDC30 Nonsynonymous SNV A556D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 100115 chr19 47588354 47588354 C T rs760283830 ZC3H4 Nonsynonymous SNV G356R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.3 100116 chr1 43805194 43805194 C T MPL Nonsynonymous SNV T215I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.582 100117 chr7 45123088 45123093 TGGGGC - rs752750934 NACAD A896_P897del 0.003 0.008 0 0 4 3 0 0 2 1 0 0 100118 chr7 45123097 45123210 CGAGAGATCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAGCGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAGGCGTGGCTGCAGCCACAGGCTTTGG - NACAD P857_S894del 0.003 0.008 0 0 4 3 0 0 2 1 0 0 100119 chr19 38379677 38379677 T A rs750339300 WDR87 Nonsynonymous SNV E1545V 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 9.84 100120 chr17 72950353 72950353 G A rs763442823 HID1 Nonsynonymous SNV R582W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 100121 chr19 44679136 44679136 G T ZNF226 0.001 0 0 0 1 0 0 0 0 0 0 0 0.965 100122 chr19 44681234 44681234 A G rs376102633 ZNF226 Nonsynonymous SNV R607G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 100123 chr17 73055610 73055610 C A rs146827625 KCTD2 Synonymous SNV P182P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.6 100124 chr19 48249005 48249005 C T rs749256313 NOP53 Synonymous SNV F63F 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 19.71 100125 chr18 50278563 50278563 T C rs112141078 DCC Synonymous SNV D77D 0.012 0.018 0.003 7 14 7 0.018 1 1 0 0 0 2.284 100126 chr19 46807239 46807239 G A rs115548009 HIF3A Stop gain W17X 0.007 0.008 0 6 8 3 0.015 0 0 0 0 0 12.61 100127 chr18 50848468 50848468 A G rs35691189 DCC Nonsynonymous SNV N702S 0.012 0.01 0 5 14 4 0.013 0 1 0 0 0 Uncertain significance 23.8 100128 chr17 73261899 73261899 G A rs115006555 MRPS7 Synonymous SNV K208K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 12.98 100129 chr18 52544957 52544957 G T rs147108093 RAB27B Synonymous SNV R47R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.918 100130 chr17 73518276 73518276 G A rs200434678 TSEN54 Nonsynonymous SNV V372M 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Uncertain significance 27.6 100131 chr17 7366759 7366759 C T rs753641581 ZBTB4 Synonymous SNV P514P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.853 100132 chr17 74008167 74008167 G A rs143463502 EVPL Synonymous SNV L815L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.525 100133 chr19 40964064 40964064 G A rs149698066 BLVRB Nonsynonymous SNV S111L 0.008 0.005 0 0 9 2 0 0 0 0 0 0 24.6 100134 chr19 47933619 47933619 G A rs759042172 SLC8A2 Synonymous SNV G831G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.91 100135 chr8 74939065 74939065 A C LY96 Nonsynonymous SNV K95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 100136 chr1 48460039 48460039 G A rs566922167 TRABD2B Synonymous SNV D111D 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 7.522 100137 chr8 77764046 77764046 G T rs747787779 ZFHX4 Nonsynonymous SNV G1630V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.999 100138 chr8 96281415 96281415 C T C8orf37 Star tloss M1? 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 100139 chr19 45445506 45445506 A G rs76214972 APOC4-APOC2 0.008 0.008 0.01 5 9 3 0.013 3 0 0 1 0 13.03 100140 chr7 55211136 55211136 G A rs377444977 EGFR Nonsynonymous SNV A127T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.159 100141 chr17 74623306 74623306 C T rs139968789 ST6GALNAC1 Nonsynonymous SNV V339M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 100142 chr8 87423859 87423859 T G WWP1 Nonsynonymous SNV C273G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 100143 chr17 74922721 74922721 G A rs375661202 MGAT5B Synonymous SNV A411A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.19 100144 chr7 56049190 56049190 C T rs757940915 NIPSNAP2 Nonsynonymous SNV T86M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 100145 chr7 56144566 56144566 G A rs149087624 SUMF2 Nonsynonymous SNV R177H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 100146 chr17 74928808 74928808 A G MGAT5B Nonsynonymous SNV K469R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 100147 chr7 63466005 63466005 A G ZNF722P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.139 100148 chr17 76046623 76046623 G A rs71385927 TNRC6C Nonsynonymous SNV D494N 0.005 0.01 0.007 4 6 4 0.01 2 0 0 0 1 17.49 100149 chr19 49797241 49797241 G A rs56671453 SLC6A16 Synonymous SNV A487A 0.003 0.005 0.007 3 3 2 0.008 2 0 0 1 0 4.34 100150 chr19 46272030 46272030 - CGC rs746882479 SIX5 A24_T25insA 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 100151 chr19 46272050 46272050 G T rs766034818 SIX5 Nonsynonymous SNV A18E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 10.08 100152 chr19 49868892 49868892 C A rs35693137 DKKL1 Nonsynonymous SNV L104I 0.003 0.005 0.007 3 3 2 0.008 2 0 0 1 0 22.9 100153 chr19 49868900 49868900 C A rs34625472 DKKL1 Synonymous SNV I106I 0.003 0.005 0.007 3 3 2 0.008 2 0 0 1 0 21.6 100154 chr19 49869085 49869085 C T rs35186396 DKKL1 Synonymous SNV S45S 0.003 0.005 0.007 3 3 2 0.008 2 0 0 1 0 14.43 100155 chr19 49894179 49894179 G A rs116320345 CCDC155 Synonymous SNV A13A 0.002 0.005 0.007 2 2 2 0.005 2 0 0 1 0 6.509 100156 chr19 42342119 42342119 G A rs144330369 LYPD4 Nonsynonymous SNV P108L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 26.1 100157 chr1 55248016 55248016 C T rs371162449 TTC22 Synonymous SNV A385A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 100158 chr19 50063295 50063295 C A rs149618546 NOSIP Synonymous SNV A24A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 21.6 100159 chr1 55352655 55352655 G A rs747179972 DHCR24 Synonymous SNV F46F 0 0 0.007 0 0 0 0 2 0 0 0 0 11.17 100160 chr19 4292702 4292702 G A rs150564984 TMIGD2 Nonsynonymous SNV P128L 0.014 0.008 0.02 4 16 3 0.01 6 0 0 0 0 0.01 100161 chr19 4302371 4302371 C T rs147605966 TMIGD2 Synonymous SNV P4P 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 Benign 9.725 100162 chr8 124109530 124109530 G A rs143777547 TBC1D31 Nonsynonymous SNV R122Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.3 100163 chr17 76798487 76798487 C T rs151321204 USP36 Nonsynonymous SNV A981T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.286 100164 chr1 59142629 59142629 G A rs74079209 MYSM1 Synonymous SNV L453L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.51 100165 chr19 50364580 50364580 G A rs116192442 PNKP Synonymous SNV A497A 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.5 100166 chr19 44237525 44237525 C T rs144177272 SMG9 Synonymous SNV L430L 0.017 0.016 0.003 1 20 6 0.003 1 0 0 0 0 Benign 13.28 100167 chr19 4818191 4818191 C T TICAM1 Nonsynonymous SNV D67N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 100168 chr17 77078068 77078068 C T rs753488111 ENGASE Nonsynonymous SNV R321C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 100169 chr19 44417944 44417944 C T rs147606810 ZNF45 Synonymous SNV R548R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.86 100170 chr17 7751858 7751858 - CAC rs774395697 KDM6B T762_A763insT 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 100171 chr7 83631316 83631316 C G rs750757537 SEMA3A Nonsynonymous SNV W469C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.9 100172 chr19 44470147 44470147 G A rs16976937 ZNF221 Nonsynonymous SNV V165M 0.018 0.026 0.027 5 21 10 0.013 8 1 0 1 0 21.1 100173 chr19 50985131 50985131 - G rs200206091 EMC10 Frameshift insertion A234Gfs*56 0.014 0.023 0.007 6 16 9 0.015 2 0 0 0 0 100174 chr7 90894681 90894681 C T rs781188913 FZD1 Synonymous SNV S162S 0.003 0 0 0 4 0 0 0 0 0 0 0 14.36 100175 chr18 74561496 74561496 T A ZNF236 Nonsynonymous SNV L24M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 100176 chr19 49116200 49116200 C G rs144922959 FAM83E Nonsynonymous SNV E144Q 0.014 0.01 0.003 3 16 4 0.008 1 0 0 0 0 13.28 100177 chr8 113504810 113504810 G A rs61754527 CSMD3 Nonsynonymous SNV A1599V 0.006 0.01 0.007 5 7 4 0.013 2 0 0 0 0 26.2 100178 chr1 67147691 67147691 A G rs17129329 SGIP1 Synonymous SNV T322T 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 0.16 100179 chr19 4511385 4511385 T C rs28523592 PLIN4 Nonsynonymous SNV N863D 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.001 100180 chr1 74929131 74929131 C A rs140963906 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV A673E 0 0 0.003 0 0 0 0 1 0 0 0 0 34 100181 chr19 4511389 4511389 T G rs28374014 PLIN4 Synonymous SNV T861T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.041 100182 chr8 124141344 124141345 AA - rs760523587 TBC1D31 R220Sfs*2 0.003 0 0 1 4 0 0.003 0 0 0 0 0 100183 chr19 4511395 4511395 T C rs71259373 PLIN4 Synonymous SNV T859T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 100184 chr7 98633131 98633131 C G rs372438110 LOC101927550 0.003 0 0 0 4 0 0 0 0 0 0 0 16.38 100185 chr1 75038836 75038836 T A rs116636724 ERICH3 Nonsynonymous SNV E853V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.68 100186 chr17 79914594 79914594 C T rs1032662187 NOTUM Nonsynonymous SNV R307Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 100187 chr19 10224443 10224443 C T rs200236974 P2RY11, PPAN-P2RY11 Nonsynonymous SNV R52C 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 23.4 100188 chr17 8021612 8021612 C A rs79377087 ALOXE3 Nonsynonymous SNV Q31H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 8.303 100189 chr1 79403816 79403816 G A rs561494459 ADGRL4 Nonsynonymous SNV A182V 0 0 0.007 0 0 0 0 2 0 0 0 0 1.719 100190 chr17 80543898 80543898 C T rs142023304 FOXK2 Synonymous SNV P466P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 100191 chr19 50156487 50156487 G A rs745349300 SCAF1 Synonymous SNV A947A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 100192 chr8 144620334 144620334 C G rs145312531 ZC3H3 Nonsynonymous SNV K401N 0.013 0.008 0.024 5 15 3 0.013 7 0 0 0 0 25.1 100193 chr19 50165358 50165358 C T rs143769046 IRF3 Nonsynonymous SNV A131T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 6.814 100194 chr1 8421106 8421106 - GGGATGCGGCGG rs749071713 RERE P266_S267insPPHP 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 100195 chr19 46206249 46206249 C T rs117220573 QPCTL Nonsynonymous SNV T270M 0.011 0.003 0.003 1 13 1 0.003 1 0 0 0 0 29.3 100196 chr19 50265416 50265416 C T rs143828952 TSKS Nonsynonymous SNV V82M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 100197 chr19 46269108 46269108 G C rs777273123 SIX5 Nonsynonymous SNV P624R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.45 100198 chr19 46273883 46273883 G A DMPK Synonymous SNV A494A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.51 100199 chr19 46404540 46404540 T G MYPOP Synonymous SNV R164R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.82 100200 chr19 50939104 50939104 G A rs752824717 MYBPC2 Nonsynonymous SNV V61I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 100201 chr17 8380303 8380303 C T MYH10 Nonsynonymous SNV A1893T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 100202 chr19 53352350 53352350 G C rs771700341 ZNF468 Synonymous SNV L44L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 11.58 100203 chr19 48182919 48182919 C T rs117898943 BICRA Synonymous SNV T164T 0.006 0 0.003 0 7 0 0 1 0 0 0 0 1.065 100204 chr1 115168068 115168068 C A rs41274126 DENND2C Nonsynonymous SNV V180F 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 13.16 100205 chr19 11287412 11287412 C T rs61734799 KANK2 Synonymous SNV P542P 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign 11.51 100206 chr18 13087047 13087047 A G rs61739369 CEP192 Nonsynonymous SNV N1883S 0.007 0.01 0.007 5 8 4 0.013 2 0 0 0 0 Benign 23.4 100207 chr8 144378010 144378010 C T rs770472813 ZNF696 Synonymous SNV P55P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.72 100208 chr19 11362861 11362861 C G rs34545822 DOCK6 Nonsynonymous SNV K147N 0.031 0.026 0.01 10 36 10 0.026 3 0 0 0 0 19.23 100209 chr1 92646152 92646152 A G rs61741973 KIAA1107 Nonsynonymous SNV H458R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 100210 chr19 54659052 54659052 C G rs748869699 CNOT3 Synonymous SNV T723T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.43 100211 chr1 117576570 117576570 C T rs141401897 CD101 Synonymous SNV L971L 0.007 0.01 0 0 8 4 0 0 0 0 0 0 7.484 100212 chr8 144642043 144642043 C A GSDMD Nonsynonymous SNV A105E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.48 100213 chr1 94502844 94502844 A C rs762213896 ABCA4 Nonsynonymous SNV C1224G 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 12.42 100214 chr19 52249609 52249609 G A rs141229910 FPR1 Synonymous SNV P213P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.202 100215 chr19 5455559 5455559 C A ZNRF4 Synonymous SNV A19A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.87 100216 chr19 14001089 14001089 G T rs148701997 C19orf57 Nonsynonymous SNV P76T 0.013 0.021 0.02 5 15 8 0.013 6 0 0 0 0 4.939 100217 chr18 28647999 28647999 - TC rs200056085 DSC2 Frameshift insertion A897Kfs*4 0.006 0.005 0.014 2 7 2 0.005 4 0 0 0 0 100218 chr18 28713870 28713870 A T DSC1 Synonymous SNV G700G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.237 100219 chr20 10393237 10393237 C T rs199939179 MKKS Nonsynonymous SNV R309H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.842 100220 chr19 14273632 14273632 G A rs768182211 ADGRL1 Synonymous SNV Y327Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.027 100221 chr1 1248291 1248291 G A rs138107513 INTS11 Synonymous SNV S292S 0.013 0.016 0.01 10 15 6 0.026 3 0 0 0 1 7.301 100222 chr20 1293149 1293149 C T rs55648421 SDCBP2 Synonymous SNV P103P 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 14.09 100223 chr19 55445026 55445026 C T rs199804625 NLRP7 Synonymous SNV L851L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.94 100224 chr8 144999731 144999731 C T rs186848953 PLEC Nonsynonymous SNV V1442M 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 16.41 100225 chr20 16492129 16492129 G A rs772949909 KIF16B Nonsynonymous SNV R164W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 100226 chr8 145138891 145138891 C T GPAA1 Synonymous SNV D188D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.81 100227 chr19 50951521 50951521 C T rs530999109 MYBPC2 Nonsynonymous SNV T449M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 29.4 100228 chr19 54403925 54403925 T C rs2242244 PRKCG Synonymous SNV F499F 0.017 0.008 0.01 2 20 3 0.005 3 0 0 0 0 Benign 7.232 100229 chr19 55912910 55912910 G A rs201696148 UBE2S Nonsynonymous SNV P188L 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 0.913 100230 chr19 55912932 55912932 C T rs377751817 UBE2S Nonsynonymous SNV D181N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.68 100231 chr9 13224521 13224521 G T MPDZ Nonsynonymous SNV P82Q 0 0 0 2 0 0 0.005 0 0 0 0 0 12.13 100232 chr7 101267298 101267298 G C rs186580198 MYL10 Nonsynonymous SNV L59V 0.007 0.01 0.014 5 8 4 0.013 4 0 0 0 0 0.007 100233 chr18 44181348 44181348 C G rs114082868 LOXHD1 Synonymous SNV G322G 0 0.013 0 0 0 5 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.38 100234 chr1 151810527 151810527 G A rs373642491 C2CD4D Synonymous SNV G313G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.43 100235 chr19 56180992 56180992 C T rs149002438 U2AF2 Synonymous SNV Y405Y 0.013 0.013 0 5 15 5 0.013 0 0 0 0 0 12.43 100236 chr7 103292112 103292112 T G rs115734214 RELN Nonsynonymous SNV S630R 0.014 0.016 0.027 2 17 6 0.005 8 0 0 0 0 Benign 25 100237 chr20 20475809 20475809 G A rs117776965 RALGAPA2 Synonymous SNV Y1773Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.002 100238 chr7 107601007 107601007 T C rs138423501 LAMB1 Nonsynonymous SNV T733A 0.004 0 0 0 5 0 0 0 0 0 0 0 21.6 100239 chr18 48190511 48190511 C T rs55800528 MAPK4 Synonymous SNV H61H 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 7.676 100240 chr9 712299 712299 T C rs199881654 KANK1 Synonymous SNV V353V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.373 100241 chr9 27168571 27168571 T C rs35969327 TEK Nonsynonymous SNV I44T 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign 10.66 100242 chr18 5419889 5419889 T C rs779066372 EPB41L3 Nonsynonymous SNV M461V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.385 100243 chr9 27284785 27284785 G T rs41305329 EQTN Nonsynonymous SNV T245K 0.008 0.005 0.031 6 9 2 0.015 9 0 0 0 0 12.11 100244 chr19 57647318 57647318 C T rs140762229 ZIM3 Synonymous SNV L129L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 6.9 100245 chr18 55024205 55024205 C T rs550363690 ST8SIA3 Nonsynonymous SNV R122W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 100246 chr9 27292474 27292474 T C rs12337286 EQTN Nonsynonymous SNV N101D 0.009 0.005 0.031 7 11 2 0.018 9 0 0 0 0 6.643 100247 chr19 5215364 5215364 C T rs139744514 PTPRS Synonymous SNV P971P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.16 100248 chr19 17393763 17393763 C T rs780632571 ANKLE1 Nonsynonymous SNV R127W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24 100249 chr19 52618471 52618471 C T rs45622033 ZNF616 Nonsynonymous SNV R649K 0.015 0.018 0.017 7 18 7 0.018 5 0 0 0 0 0.112 100250 chr19 55995087 55995119 GTCCAGCTCCAGCCAGCACAGGAAGTAACCACG - rs777519969 ZNF628 A859_P869del 0.004 0 0 0 5 0 0 0 0 0 0 0 100251 chr19 17566562 17566562 G A rs56084515 NXNL1 Nonsynonymous SNV T178I 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 25.4 100252 chr9 35906504 35906504 C T rs141107455 HRCT1 Nonsynonymous SNV R74C 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 22.7 100253 chr18 56247152 56247152 C A rs138300448 ALPK2 Nonsynonymous SNV G286C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 27.4 100254 chr19 57802089 57802089 C T rs73630461 ZNF460 Synonymous SNV T19T 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 7.584 100255 chr19 17836883 17836883 G A rs116714292 MAP1S Synonymous SNV P204P 0.02 0.018 0.003 8 23 7 0.021 1 0 0 0 0 6.466 100256 chr18 58039300 58039300 C T rs13447328 MC4R Nonsynonymous SNV V95I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 100257 chr9 19550210 19550210 G T rs58063275 SLC24A2 Synonymous SNV R451R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.364 100258 chr19 57967004 57967004 A G rs376318602 VN1R1 Nonsynonymous SNV V284A 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 0.002 100259 chr20 34171871 34171871 G A rs777218411 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 8.043 100260 chr19 18254763 18254763 C G rs774842710 MAST3 Nonsynonymous SNV P815A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.08 100261 chr7 133981213 133981213 A G rs575322937 SLC35B4 Nonsynonymous SNV Y227H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 12.05 100262 chr20 36779437 36779437 C T rs201214408 TGM2 Synonymous SNV S71S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.64 100263 chr19 691972 691972 G A rs182506087 PRSS57 Synonymous SNV G88G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.274 100264 chr20 3765417 3765417 G A rs773062211 CENPB Nonsynonymous SNV L572F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 100265 chr18 67836217 67836217 A G rs200975487 RTTN Synonymous SNV I521I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 8.929 100266 chr18 6894888 6894888 A T rs141734364 ARHGAP28 Nonsynonymous SNV M476L 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 13.54 100267 chr9 35818488 35818488 C T rs912733032 FAM221B Nonsynonymous SNV S396N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.565 100268 chr19 5908968 5908968 C T rs137868133 VMAC Nonsynonymous SNV R109C 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 19.33 100269 chr1 156834543 156834543 G A rs578095133 NTRK1 Nonsynonymous SNV R104H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 17.75 100270 chr9 79322102 79322103 CT - PRUNE2 E1696Vfs*15 0.002 0 0 2 2 0 0.005 0 0 0 0 0 100271 chr19 7998859 7998859 G A rs141712131 TIMM44 Synonymous SNV D191D 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 9.014 100272 chr19 6432213 6432213 T C rs61748927 SLC25A41 Synonymous SNV V70V 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 9.155 100273 chr19 6444196 6444196 C G rs138598051 SLC25A23 Synonymous SNV P396P 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 15.22 100274 chr1 158226584 158226584 G A rs199513468 CD1A Nonsynonymous SNV E194K 0.002 0 0.007 0 2 0 0 2 0 0 1 0 19.87 100275 chr19 6452423 6452423 C T rs61729423 SLC25A23 Nonsynonymous SNV R324H 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 25.3 100276 chr19 6454367 6454367 G A rs10402833 SLC25A23 Synonymous SNV P254P 0.009 0.016 0 4 10 6 0.01 0 0 0 0 0 0.21 100277 chr19 57723696 57723696 C G rs554438584 ZNF264 Nonsynonymous SNV R411G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 100278 chr19 6456458 6456458 G A rs149525556 SLC25A23 Synonymous SNV D152D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.69 100279 chr19 813841 813841 G A rs351993 PLPPR3 Nonsynonymous SNV P324S 0.003 0.005 0 6 4 2 0.015 0 0 0 0 0 1.593 100280 chr18 73139497 73139497 C G rs146783544 SMIM21 Nonsynonymous SNV A8P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.34 100281 chr19 6475303 6475303 G A rs754560682 DENND1C Synonymous SNV D301D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.8 100282 chr9 71831325 71831325 C T rs138241615 TJP2 Nonsynonymous SNV T66M 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 100283 chr1 158390044 158390044 A G rs200009813 OR10K2 Synonymous SNV L205L 0.003 0 0.01 0 3 0 0 3 0 0 1 0 0.03 100284 chr19 54976709 54976709 C T rs200450833 CDC42EP5 Nonsynonymous SNV G8D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.5 100285 chr9 77245265 77245265 C T rs41307459 RORB Synonymous SNV I36I 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 Benign 14.94 100286 chr19 873538 873538 G A rs564738619 MED16 Synonymous SNV L606L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.59 100287 chr19 7535031 7535031 G A rs776526059 ARHGEF18 Synonymous SNV P1069P 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 1.242 100288 chr19 8997465 8997465 G T rs536454173 MUC16 Nonsynonymous SNV Q13653K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 4.575 100289 chr20 49225233 49225233 G A rs146608853 RIPOR3 Nonsynonymous SNV R243W 0.002 0 0.014 0 2 0 0 4 0 0 0 0 23.6 100290 chr19 58863986 58863986 C T rs759175887 A1BG-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.987 100291 chr20 55100056 55100056 T G rs773966109 FAM209A Synonymous SNV L64L 0.003 0 0.014 0 4 0 0 4 0 0 0 0 0.021 100292 chr7 148951318 148951318 A G ZNF212 Nonsynonymous SNV K434E 0.008 0 0 2 9 0 0.005 0 0 0 0 0 28.1 100293 chr20 5547384 5547384 C T rs73078112 GPCPD1 Nonsynonymous SNV R421Q 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 19.46 100294 chr19 3019338 3019338 G T TLE2 Nonsynonymous SNV Q166K 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 9.309 100295 chr9 86571249 86571249 T C rs370900126 C9orf64 Nonsynonymous SNV N56S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 100296 chr20 56098819 56098819 A G CTCFL Nonsynonymous SNV M148T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.017 100297 chr19 307515 307515 G A rs148132163 MIER2 Nonsynonymous SNV T371M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.49 100298 chr19 900061 900061 C T rs7253155 R3HDM4 Nonsynonymous SNV M187I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.2 100299 chr9 88611412 88611412 G A rs760774532 NAA35 Nonsynonymous SNV V326M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 100300 chr19 8436015 8436015 C T rs200311316 ANGPTL4 Nonsynonymous SNV A208V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.31 100301 chr19 56459367 56459367 C T rs61735878 NLRP8 Synonymous SNV P33P 0.003 0.003 0.003 3 4 1 0.008 1 1 0 0 0 10.31 100302 chr7 150499378 150499378 G A rs36111354 TMEM176A Nonsynonymous SNV V84I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.04 100303 chr9 95165552 95165552 A G rs564769029 OGN Synonymous SNV D46D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 100304 chr19 56467052 56467052 C T rs41391053 NLRP8 Nonsynonymous SNV A543V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 23.8 100305 chr20 57766113 57766113 G A rs148289392 ZNF831 Synonymous SNV A13A 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 8.456 100306 chr19 651816 651816 C T rs139851549 RNF126 Nonsynonymous SNV G80R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 100307 chr19 34973087 34973087 G A rs150721734 WTIP Nonsynonymous SNV E70K 0.007 0.005 0.007 5 8 2 0.013 2 1 1 0 1 3.93 100308 chr9 107566930 107566930 C A rs41277763 ABCA1 Synonymous SNV T1512T 0.015 0.013 0.024 7 18 5 0.018 7 0 0 0 0 Likely benign 18.09 100309 chr20 5966763 5966763 A G rs61754763 MCM8 Nonsynonymous SNV I670V 0.006 0.013 0.02 1 7 5 0.003 6 1 0 0 0 Benign 23.1 100310 chr9 96827081 96827081 C T rs771782518 PTPDC1 Synonymous SNV S20S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.79 100311 chr9 98231110 98231110 G A rs149258400 PTCH1 Nonsynonymous SNV P673S 0.004 0.005 0.007 0 5 2 0 2 0 1 0 0 Benign/Likely benign 10.73 100312 chr19 11031139 11031139 G A rs199558419 CARM1 Synonymous SNV P408P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.226 100313 chr9 100077004 100077004 C T rs140321791 CCDC180 Synonymous SNV T275T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.31 100314 chr19 6935033 6935033 C A rs11666741 ADGRE1 Synonymous SNV I634I 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 19.07 100315 chr19 36046460 36046460 T A rs61729956 ATP4A Nonsynonymous SNV Q680L 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Likely benign 24.1 100316 chr19 57327225 57327225 G C PEG3 Nonsynonymous SNV S707C 0.002 0 0 0 2 0 0 0 0 0 0 0 23 100317 chr19 11917543 11917543 C T rs148074279 ZNF491 Stop gain R259X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 100318 chr9 115600817 115600817 C T rs192545589 SNX30 Nonsynonymous SNV S285F 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 24 100319 chr20 61471930 61471930 A G rs773262510 COL9A3 Nonsynonymous SNV Q634R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 100320 chr19 12781556 12781556 C T rs764953656 WDR83 Nonsynonymous SNV P143S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 100321 chr9 108536360 108536360 A G rs145425586 TMEM38B Synonymous SNV X292X 0.001 0 0 0 1 0 0 0 0 0 0 0 3.321 100322 chr1 170115286 170115286 G T rs562751042 METTL11B Nonsynonymous SNV R13L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 100323 chr19 9071924 9071924 G A rs17000805 MUC16 Synonymous SNV S5174S 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 0.812 100324 chr20 61918164 61918164 C T rs6062431 MIR4326 0 0 0.024 0 0 0 0 7 0 0 3 0 5.021 100325 chr9 117188629 117188629 A G rs199664960 WHRN Nonsynonymous SNV V343A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 100326 chr8 3855508 3855508 G C rs71521901 CSMD1 Synonymous SNV T245T 0.011 0.003 0.003 4 13 1 0.01 1 0 0 0 0 8.672 100327 chr19 9075021 9075021 G A rs17000819 MUC16 Nonsynonymous SNV P4142L 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 10.51 100328 chr8 6302469 6302469 A T rs200518541 MCPH1 Nonsynonymous SNV E361V 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Uncertain significance 20.5 100329 chr19 14593531 14593531 G A rs1043530 GIPC1 Synonymous SNV I86I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.05 100330 chr19 9076006 9076006 A G rs145105175 MUC16 Nonsynonymous SNV S3814P 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 4.441 100331 chr19 14854233 14854233 G A rs61732002 ADGRE2 Nonsynonymous SNV T763M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.443 100332 chr19 14857772 14857772 C A rs767130765 ADGRE2 Nonsynonymous SNV C618F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 100333 chr19 619099 619099 G A rs149476145 POLRMT Synonymous SNV T1055T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 14.01 100334 chr1 100459132 100459132 G A rs74102304 SLC35A3 Nonsynonymous SNV V8I 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 Benign 9.573 100335 chr8 8235219 8235219 A G rs768575005 PRAG1 Nonsynonymous SNV S234P 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 23.8 100336 chr1 100573489 100573489 G A rs35245591 SASS6 Synonymous SNV H144H 0.002 0.01 0 0 2 4 0 0 0 0 0 0 1.296 100337 chr19 6418587 6418587 G A rs139957775 KHSRP Synonymous SNV R262R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.924 100338 chr1 174973755 174973755 G C CACYBP Nonsynonymous SNV Q7H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 100339 chr1 100618006 100618008 TCT - rs61143568 LRRC39 E297del 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 100340 chr19 9088524 9088524 T C rs766602966 MUC16 Synonymous SNV G1097G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.027 100341 chr19 38968395 38968395 G A rs370851779 RYR1 Nonsynonymous SNV V1447M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 100342 chr8 9609295 9609295 C T rs201607807 TNKS Synonymous SNV A1003A 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 12.46 100343 chr19 6750386 6750386 C A rs75725110 TRIP10 Synonymous SNV P437P 0.033 0.026 0.017 8 39 10 0.021 5 1 0 0 0 11.81 100344 chr20 7352262 7352262 A G rs73080647 MIR8062 0 0 0.031 0 0 0 0 9 0 0 0 0 3.566 100345 chr9 114484747 114484747 G A rs375505127 SHOC1 Synonymous SNV D588D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.381 100346 chr20 7866442 7866442 G A rs143247049 HAO1 Nonsynonymous SNV R295W 0 0 0.01 1 0 0 0.003 3 0 0 0 0 33 100347 chr19 8999537 8999537 T G MUC16 Nonsynonymous SNV K13546N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.75 100348 chr19 9728816 9728816 T G rs61740768 ZNF561 Nonsynonymous SNV K22T 0.009 0.01 0.003 5 11 4 0.013 1 0 0 0 0 22.2 100349 chr19 8999553 8999553 T - MUC16 D13541Vfs*31 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 100350 chr19 15483751 15483751 C T rs144582281 AKAP8 Nonsynonymous SNV V258M 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Likely benign 9.468 100351 chr19 8999555 8999555 C G MUC16 Nonsynonymous SNV K13540N 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 17.87 100352 chr19 8999558 8999558 C T rs959246029 MUC16 Synonymous SNV K13539K 0.014 0.01 0 1 17 4 0.003 0 0 0 0 0 10.07 100353 chr9 116346574 116346574 C A rs201299150 RGS3 Nonsynonymous SNV T282N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 100354 chr9 125424451 125424451 C T rs138402441 OR1L1 Nonsynonymous SNV H153Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.026 100355 chr9 116994128 116994128 C T rs144760825 COL27A1 Synonymous SNV P849P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.27 100356 chr19 7830870 7831007 GCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACGGAGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACCCA - CLEC4M L167Tfs*22 0.002 0 0 0 2 0 0 0 0 0 0 0 100357 chr9 117139280 117139280 T C rs41306498 AKNA Synonymous SNV P150P 0.027 0.034 0.037 15 32 13 0.038 11 0 0 1 1 0.191 100358 chr1 110735274 110735274 C T rs775059389 SLC6A17 Nonsynonymous SNV S418L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 100359 chr8 17417968 17417968 G A rs750911955 SLC7A2 Nonsynonymous SNV R477Q 0.009 0.003 0 0 11 1 0 0 1 0 0 0 8.812 100360 chr19 40520531 40520531 C T rs7255186 ZNF546 Nonsynonymous SNV L426F 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 20.1 100361 chr19 40580559 40580559 T C rs73549809 ZNF780A Nonsynonymous SNV H597R 0.005 0.005 0.014 3 6 2 0.008 4 0 0 0 0 0.045 100362 chr21 34923207 34923207 C T rs201936865 SON Nonsynonymous SNV A557V 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Benign 25.4 100363 chr19 9073142 9073142 A G rs746714100 MUC16 Synonymous SNV S4768S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 100364 chr19 40902005 40902005 C T rs147587689 PRX Nonsynonymous SNV E752K 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 100365 chr19 17062789 17062789 G T rs200788931 CPAMD8 Nonsynonymous SNV T833N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.007 100366 chr21 36411127 36411127 C T rs61750966 RUNX1-IT1 0 0 0.048 0 0 0 0 14 0 0 1 0 0.813 100367 chr9 123538404 123538404 G A rs377426435 FBXW2 Synonymous SNV N262N 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 9.884 100368 chr9 130279168 130279168 G T rs141392004 NIBAN2 Nonsynonymous SNV T301N 0 0 0.007 3 0 0 0.008 2 0 0 0 0 23.6 100369 chr9 130287412 130287412 C T rs147548410 NIBAN2 Nonsynonymous SNV V103I 0.004 0.003 0.007 9 5 1 0.023 2 0 0 0 0 4.613 100370 chr21 37586428 37586428 T C DOP1B Synonymous SNV N318N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.369 100371 chr1 110211966 110211966 C T rs778079639 GSTM2 Nonsynonymous SNV R78W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 100372 chr1 110211968 110211968 G C rs2229047 GSTM2 Synonymous SNV R78R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 10.51 100373 chr19 8977664 8977664 G T rs201767175 MUC16 Nonsynonymous SNV P14061T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 19.02 100374 chr9 125154602 125154602 C A rs145989297 PTGS1 Nonsynonymous SNV P479T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 100375 chr21 38529482 38529482 G A rs150044803 TTC3 Stop gain W1026X 0.007 0.005 0.017 4 8 2 0.01 5 0 0 0 0 5.315 100376 chr21 42617966 42617966 G A rs772624625 BACE2 Synonymous SNV V320V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.761 100377 chr8 23069632 23069632 G A rs767963299 TNFRSF10A Nonsynonymous SNV P134S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.1 100378 chr1 186276451 186276451 - CCAAGGAGCCTGCACCCACCACTACCAAGTCTGCACCCACCACTC PRG4 P418_S419insAPTTTKSAPTTPKEP 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 100379 chr1 1007453 1007453 C T RNF223 Nonsynonymous SNV S165N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 100380 chr21 43259899 43259899 G A rs370898854 PRDM15 Nonsynonymous SNV A272V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.34 100381 chr1 114524169 114524169 C T rs34608563 OLFML3 Synonymous SNV V272V 0.011 0.005 0.003 7 13 2 0.018 1 0 0 0 0 Benign 12.68 100382 chr1 115053674 115053674 G A TRIM33 Synonymous SNV G8G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.18 100383 chr1 118548044 118548044 G T rs75886122 SPAG17 Nonsynonymous SNV T1590N 0.007 0.003 0.007 6 8 1 0.015 2 0 0 0 0 18.4 100384 chr19 18245670 18245670 G A rs775704646 MAST3 Nonsynonymous SNV R554H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 100385 chr9 127618870 127618870 C T rs768666767 WDR38 Synonymous SNV S154S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 100386 chr1 120345649 120345649 T C rs3009202 REG4 Synonymous SNV A69A 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 2.097 100387 chr1 120497780 120497780 A T NOTCH2 Nonsynonymous SNV V701E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 21.5 100388 chr1 19570451 19570451 G A rs374628917 EMC1 Synonymous SNV H93H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.159 100389 chr1 109617609 109617609 A G TAF13 Synonymous SNV L36L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 100390 chr21 45522693 45522693 G A rs2071155 TRAPPC10 Synonymous SNV G660G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.19 100391 chr1 197641199 197641199 C T rs183583048 DENND1B Synonymous SNV T88T 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 17.03 100392 chr1 197898356 197898356 C T rs74697737 LHX9 Synonymous SNV S387S 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 13.7 100393 chr1 1396160 1396160 C T rs748781199 ATAD3C Synonymous SNV P281P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.08 100394 chr19 18976484 18976484 C T rs140671518 UPF1 Nonsynonymous SNV A1056V 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 16.27 100395 chr8 37555734 37555734 G A ZNF703 Nonsynonymous SNV G439S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.96 100396 chr19 44660559 44660559 G T rs151243299 ZNF234 Nonsynonymous SNV L130F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.009 100397 chr9 131483690 131483690 A G rs111686018 ZDHHC12 Nonsynonymous SNV V201A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.387 100398 chr19 19375583 19375583 G T rs188787025 TM6SF2 Nonsynonymous SNV L342M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.54 100399 chr9 131486367 131486367 C A rs369306989 ZDHHC12 Synonymous SNV A2A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 100400 chr21 46841367 46841367 C T rs2838919 COL18A1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.158 100401 chr1 145596928 145596928 G C rs782468183 POLR3C Synonymous SNV L412L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 9.464 100402 chr9 131771541 131771541 C T rs1140159 SH3GLB2 Nonsynonymous SNV M308I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.02 100403 chr19 19744614 19744614 C T rs73004988 GMIP Nonsynonymous SNV E795K 0.012 0.016 0.003 5 14 6 0.013 1 0 0 0 0 14.21 100404 chr19 19774426 19774426 G A rs762002691 ATP13A1 Nonsynonymous SNV P17L 0 0.003 0 0 0 1 0 0 0 0 0 0 25 100405 chr1 1475096 1475096 G C rs552107946 TMEM240 Synonymous SNV G44G 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Likely benign 12.77 100406 chr21 47541483 47541483 A G rs754954890 COL6A2 Nonsynonymous SNV D491G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 100407 chr1 150445109 150445109 C A RPRD2 Synonymous SNV R1203R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.81 100408 chr8 55049131 55049131 A G rs117264028 MRPL15 Nonsynonymous SNV R57G 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 14.75 100409 chr8 55370796 55370796 C A rs189384157 SOX17 Nonsynonymous SNV A33D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.9 100410 chr19 21991663 21991663 A G rs61733114 ZNF43 Synonymous SNV H327H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.054 100411 chr19 2230580 2230580 G A rs138828181 PLEKHJ1 Nonsynonymous SNV P139L 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 5.91 100412 chr19 2249366 2249366 T G rs149082963 AMH Nonsynonymous SNV V12G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 14.34 100413 chr8 62370916 62370916 T G rs72657068 CLVS1 Synonymous SNV P264P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.486 100414 chr21 47863837 47863837 C T PCNT Nonsynonymous SNV A3075V 0 0 0.003 0 0 0 0 1 0 0 0 0 21 100415 chr21 47916958 47916958 C A DIP2A Nonsynonymous SNV P114H 0 0 0.007 0 0 0 0 2 0 0 0 0 32 100416 chr19 45430159 45430159 G A rs8102378 APOC1P1 0.005 0.008 0.014 3 6 3 0.008 4 0 0 1 0 3.821 100417 chr1 114399290 114399290 T C rs74163644 AP4B1-AS1 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 4.226 100418 chr19 45864835 45864835 - A ERCC2 Frameshift insertion S371Ffs*8 0 0 0 2 0 0 0.005 0 0 0 0 0 100419 chr22 18566327 18566327 C T rs369695924 PEX26 Nonsynonymous SNV R166W 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 33 100420 chr1 115316900 115316900 T C rs753050772 SIKE1 Nonsynonymous SNV I210V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.26 100421 chr22 19005632 19005632 G T rs191536259 DGCR9 0 0 0.007 0 0 0 0 2 0 0 0 0 3.167 100422 chr19 46094063 46094063 C T rs147607317 GPR4 Synonymous SNV Q354Q 0 0 0 2 0 0 0.005 0 0 0 0 0 3.074 100423 chr22 19482035 19482035 C G rs151216373 CDC45 Nonsynonymous SNV S183C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.54 100424 chr9 135418393 135418393 G A rs142726335 CFAP77 Nonsynonymous SNV V231M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14.63 100425 chr9 136029162 136029162 G A rs201573400 GBGT1 Nonsynonymous SNV P276L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.92 100426 chr1 204518457 204518457 A C rs41299595 MDM4 Nonsynonymous SNV K48Q 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Uncertain significance 14.86 100427 chr1 151679640 151679640 G A CELF3 Synonymous SNV N254N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.04 100428 chr1 11807600 11807600 A G rs144060195 AGTRAP Nonsynonymous SNV H44R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 100429 chr19 46811950 46811950 C T rs200248549 HIF3A Nonsynonymous SNV T91M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 100430 chr1 151958654 151958654 T C rs146701614 S100A10 Nonsynonymous SNV K18R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.53 100431 chr1 152081632 152081632 C G rs2496251 TCHH Nonsynonymous SNV R1354P 0.001 0.013 0 0 1 5 0 0 0 0 0 0 16.5 100432 chr19 46996916 46996916 C T rs375877688 PNMA8B Nonsynonymous SNV A603T 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 22.1 100433 chr1 152085307 152085307 A G rs202181809 TCHH Nonsynonymous SNV L129P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.272 100434 chr1 152275688 152275688 G A rs141128022 FLG Nonsynonymous SNV R3892W 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23 100435 chr1 154234107 154234107 A G rs1000937912 UBAP2L Nonsynonymous SNV S946G 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 12.87 100436 chr1 110033954 110033954 C G rs754393788 ATXN7L2 Nonsynonymous SNV T622S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 4.43 100437 chr1 110765904 110765904 G A rs147322977 KCNC4 Nonsynonymous SNV G333S 0.007 0 0 1 8 0 0.003 0 0 0 0 0 24.3 100438 chr1 12020824 12020824 C T rs377080927 PLOD1 Nonsynonymous SNV A366V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23 100439 chr1 12023631 12023631 C T rs200131516 PLOD1 Synonymous SNV S380S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.95 100440 chr1 12065913 12065913 C T rs140924661 MFN2 Synonymous SNV L547L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.18 100441 chr1 1222324 1222324 C T rs371658062 SCNN1D Nonsynonymous SNV S363L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.78 100442 chr9 138594134 138594134 G A rs139034501 KCNT1 Synonymous SNV P10P 0.009 0.005 0.014 3 10 2 0.008 4 0 0 0 0 Benign 7.179 100443 chr9 138594163 138594163 G C rs146292575 KCNT1 Nonsynonymous SNV G20A 0.009 0.005 0.014 3 10 2 0.008 4 0 0 0 0 Benign/Likely benign 9.644 100444 chr22 25131681 25131681 G T rs144945178 PIWIL3 Nonsynonymous SNV A543E 0 0 0.007 2 0 0 0.005 2 0 0 0 0 23.2 100445 chr1 1354590 1354590 G A rs561097299 ANKRD65 Nonsynonymous SNV R364W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20 100446 chr22 25255689 25255689 G A rs573738280 SGSM1 Nonsynonymous SNV D270N 0 0 0.007 0 0 0 0 2 0 0 0 0 32 100447 chr1 13840017 13840017 G A LRRC38 Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 100448 chr22 26100144 26100144 C T rs3730316 GRK3 Synonymous SNV D319D 0 0 0.007 0 0 0 0 2 0 0 0 0 10.44 100449 chr8 103297857 103297857 T C UBR5 Nonsynonymous SNV I1790V 0.003 0 0 0 3 0 0 0 0 0 0 0 23 100450 chr10 5782130 5782130 A G rs201010984 TASOR2 Nonsynonymous SNV K585R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.09 100451 chr19 36159345 36159345 G A rs201065272 UPK1A-AS1 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 5.673 100452 chr19 36159524 36159524 G A rs187217680 UPK1A Nonsynonymous SNV A85T 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 1.665 100453 chr9 139639644 139639644 G C rs571025444 LCN6 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.993 100454 chr22 26937198 26937198 C G rs140525210 TPST2 Synonymous SNV L133L 0.016 0.008 0.027 10 19 3 0.026 8 0 0 0 0 0.253 100455 chr9 139837052 139837052 G A rs142133236 FBXW5 Nonsynonymous SNV R208C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 100456 chr1 145562951 145562951 G C rs369524282 ANKRD35 Nonsynonymous SNV R790P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 100457 chr9 139906383 139906383 G A rs757798725 ABCA2 Synonymous SNV A1816A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.368 100458 chr1 156884441 156884441 C T rs778440938 PEAR1 Stop gain R989X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 36 100459 chr22 30771302 30771302 A G rs76162159 KIAA1656 0 0 0.014 0 0 0 0 4 0 0 0 0 3.526 100460 chr19 37309619 37309619 A G rs762318028 ZNF790 Nonsynonymous SNV F543L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 100461 chr1 156949056 156949056 T C rs770797395 ARHGEF11 Nonsynonymous SNV N99S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.42 100462 chr19 50155111 50155111 C G SCAF1 Nonsynonymous SNV Q489E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.82 100463 chr8 120886089 120886089 G C DEPTOR Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 100464 chr9 140149964 140149964 G C NELFB Nonsynonymous SNV M49I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 100465 chr1 21938562 21938562 C G rs144840782 RAP1GAP Nonsynonymous SNV S254T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.2 100466 chr19 37487927 37487927 A G ZNF568 Nonsynonymous SNV H381R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.2 100467 chr10 17087156 17087156 G A rs1873469 CUBN Synonymous SNV G1174G 0.015 0.005 0.01 4 18 2 0.01 3 0 0 0 0 Benign 5.098 100468 chr10 17171656 17171656 T G rs76788243 CUBN Nonsynonymous SNV I37L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 0.026 100469 chr8 124664264 124664264 G A rs200699799 KLHL38 Synonymous SNV D301D 0.003 0 0 0 4 0 0 0 0 0 0 0 0.237 100470 chr10 375424 375424 G C rs139751623 DIP2C Synonymous SNV S1234S 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 10.97 100471 chr1 152323597 152323597 G A rs754556065 FLG2 Nonsynonymous SNV T2222I 0.003 0.008 0 0 4 3 0 0 0 0 0 0 5.371 100472 chr1 158725286 158725286 T C rs771749765 OR6K6 Synonymous SNV D227D 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.038 100473 chr1 1275865 1275865 C T rs762418854 DVL1 Synonymous SNV E208E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.349 100474 chr19 38189688 38189688 G C rs750956162 ZNF607 Synonymous SNV P447P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.256 100475 chr10 22690155 22690155 A G rs147690584 SPAG6 Synonymous SNV L399L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 9.42 100476 chr10 5948196 5948196 G A rs147250809 FBH1 Synonymous SNV P44P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.753 100477 chr22 37769679 37769679 C T rs766332484 ELFN2 Synonymous SNV S632S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.21 100478 chr1 161144890 161144890 T C rs764845131 B4GALT3 Nonsynonymous SNV I128V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.11 100479 chr22 38221305 38221305 G T rs767613373 GALR3 Nonsynonymous SNV R312L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.4 100480 chr1 156128220 156128220 T C rs56271605 SEMA4A Synonymous SNV N135N 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.263 100481 chr22 38993302 38993302 C T rs201369993 FAM227A Nonsynonymous SNV R480Q 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 23.9 100482 chr1 156248735 156248735 C T rs749676420 SMG5 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 100483 chr19 39980412 39980412 C T rs114194716 TIMM50 Synonymous SNV F225F 0.009 0.005 0.01 1 10 2 0.003 3 0 0 0 0 15.83 100484 chr1 152327526 152327526 T C rs12758283 FLG2 Synonymous SNV Q912Q 0.014 0.005 0.027 5 16 2 0.013 8 1 0 0 0 0.003 100485 chr19 40195183 40195183 C T rs117106744 LGALS14 Synonymous SNV P5P 0.004 0.003 0.02 0 5 1 0 6 0 0 0 0 4.915 100486 chr22 41653994 41653994 A G rs756314495 RANGAP1 Synonymous SNV N244N 0 0 0.007 0 0 0 0 2 0 0 0 0 7.949 100487 chr19 4054937 4054937 G A rs765404922 ZBTB7A Synonymous SNV T98T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 100488 chr10 46969291 46969291 C T rs782005603 LOC102724488, SYT15 Nonsynonymous SNV R57Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.378 100489 chr22 42764776 42764776 C T rs2071775 LINC01315 0 0 0.116 0 0 0 0 34 0 0 0 0 10.75 100490 chr22 43088902 43088902 G A rs147715374 A4GALT Synonymous SNV Y352Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.531 100491 chr1 16534022 16534022 A G rs144638812 ARHGEF19 Nonsynonymous SNV L290P 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 22.7 100492 chr10 46998978 46998978 G A rs151134434 GPRIN2 Nonsynonymous SNV R33Q 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 0.248 100493 chr22 43308042 43308042 G A rs367767535 PACSIN2 Synonymous SNV S15S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.08 100494 chr1 167097826 167097826 A G rs111745868 DUSP27 Nonsynonymous SNV Q1153R 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 4.903 100495 chr19 41250501 41250501 C T rs769429870 C19orf54 Nonsynonymous SNV G30R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 18.76 100496 chr19 4208788 4208788 C T rs117198027 ANKRD24 Nonsynonymous SNV A287V 0.01 0.013 0.014 4 12 5 0.01 4 0 0 0 0 25 100497 chr10 26802583 26802583 C T rs151148433 APBB1IP Synonymous SNV N269N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.46 100498 chr19 54561837 54561837 C T rs143258264 VSTM1 Synonymous SNV P26P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 100499 chr1 17281850 17281850 G T CROCC Nonsynonymous SNV R1170L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.9 100500 chr19 42224864 42224864 T C rs75582708 CEACAM5 Synonymous SNV I598I 0.014 0.016 0.014 5 17 6 0.013 4 0 0 0 0 0.005 100501 chr1 17312787 17312787 G A rs201610681 ATP13A2 Nonsynonymous SNV A1057V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Uncertain significance 32 100502 chr22 45923855 45923855 C T rs141549958 FBLN1 Synonymous SNV T150T 0.003 0 0.014 3 3 0 0.008 4 0 0 0 0 11.07 100503 chr1 15855639 15855639 G A rs147329664 DNAJC16 Synonymous SNV L13L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.864 100504 chr19 4298254 4298254 C T TMIGD2 Synonymous SNV Q45Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.497 100505 chr22 46930326 46930326 G C CELSR1 Synonymous SNV V914V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.122 100506 chr19 44223113 44223113 G A rs11555891 IRGC Nonsynonymous SNV D135N 0.025 0.023 0.027 12 29 9 0.031 8 0 0 0 0 27.8 100507 chr10 50732806 50732806 G A rs150935953 ERCC6 Nonsynonymous SNV L224F 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 100508 chr1 156146561 156146561 G C rs780910383 SEMA4A Nonsynonymous SNV V555L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.3 100509 chr8 145095559 145095559 C T rs149753905 SPATC1 Nonsynonymous SNV P286L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 24.6 100510 chr22 50279782 50279782 C T rs61731523 ZBED4 Synonymous SNV S824S 0.002 0 0.01 0 2 0 0 3 1 0 0 0 Benign 13.23 100511 chr1 236708179 236708179 T C rs754682456 LGALS8 Synonymous SNV I256I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.866 100512 chr1 17312637 17312637 G A rs770098952 ATP13A2 Nonsynonymous SNV P1107L 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Uncertain significance 6.613 100513 chr1 160461075 160461075 G T rs35414223 SLAMF6 Synonymous SNV V51V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.868 100514 chr1 160523247 160523247 C T CD84 Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.046 100515 chr22 50596619 50596619 C T rs775445816 MOV10L1 Nonsynonymous SNV T194M 0 0 0.007 0 0 0 0 2 0 0 0 0 34 100516 chr1 173823011 173823011 C A rs149660059 DARS2 Nonsynonymous SNV L497M 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign/Likely benign 22.5 100517 chr1 156848916 156848916 C G rs188270548 NTRK1 Nonsynonymous SNV S597C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 23.8 100518 chr1 238053436 238053436 G A rs150141018 ZP4 Synonymous SNV D72D 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 0.693 100519 chr1 16256832 16256832 G A rs887977680 SPEN Nonsynonymous SNV R1366Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 100520 chr22 51009960 51009960 C T rs368775105 CPT1B Synonymous SNV A494A 0 0 0.007 0 0 0 0 2 0 0 0 0 15.99 100521 chr19 56029167 56029167 T A rs191675179 SSC5D Nonsynonymous SNV F1175Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.545 100522 chr1 181702591 181702591 G A rs375018770 CACNA1E Synonymous SNV V970V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 9.413 100523 chr1 158815664 158815664 G A MNDA Synonymous SNV V286V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.335 100524 chr1 159023462 159023462 C T rs772714012 IFI16 Nonsynonymous SNV P686L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 100525 chr1 247027283 247027283 A G AHCTF1 Synonymous SNV P1161P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.489 100526 chr10 50165258 50165258 G A rs61733228 WDFY4 Nonsynonymous SNV V2688I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 100527 chr1 247464416 247464416 C T rs1047647174 ZNF496 Nonsynonymous SNV R390Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 100528 chr2 105959538 105959538 A C rs201112537 C2orf49 Nonsynonymous SNV N167T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.466 100529 chr1 169845195 169845195 A G rs149229551 SCYL3 Nonsynonymous SNV V130A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 100530 chr19 45783879 45783879 G A rs768263726 MARK4 Nonsynonymous SNV R388Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 100531 chr9 8636843 8636843 T C rs185931022 PTPRD Synonymous SNV T22T 0.007 0.003 0 4 8 1 0.01 0 0 0 0 1 12.27 100532 chr1 170508631 170508631 T C rs769560414 GORAB Synonymous SNV N139N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.297 100533 chr19 46215467 46215467 G T rs370392883 FBXO46 Synonymous SNV A429A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.025 100534 chr1 160915019 160915019 C T rs149928906 ITLN2 Nonsynonymous SNV A297T 0.007 0.008 0 0 8 3 0 0 0 0 0 0 23.9 100535 chr19 56538432 56538432 G A rs749175273 NLRP5 Nonsynonymous SNV R278Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.125 100536 chr1 182993133 182993133 C T rs150298695 LAMC1 Synonymous SNV A94A 0.011 0.013 0 3 13 5 0.008 0 0 0 0 0 20.9 100537 chr1 171707536 171707536 G A rs535997142 VAMP4 Nonsynonymous SNV R7C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 100538 chr1 248004808 248004828 GGAGTGGGCTGCAGATGGCCA - OR11L1 L124_L130del 0.001 0 0 0 1 0 0 0 0 0 0 0 100539 chr10 52087028 52087028 C A rs141603600 SGMS1 Synonymous SNV R226R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 100540 chr10 60573729 60573729 G A rs200282277 BICC1 Nonsynonymous SNV R839H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 100541 chr10 75671289 75671289 C T rs2227579 C10orf55 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 11.15 100542 chr9 21385324 21385324 G C IFNA2 Nonsynonymous SNV A2G 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 100543 chr19 57325583 57325583 - GCAGCCTCCACTTCTGGCTCG rs748624205 PEG3 P1263_N1264insEVEAAEP 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 100544 chr2 114002021 114002021 A G rs374229935 PAX8 Synonymous SNV S124S 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 0.449 100545 chr1 19166501 19166501 G A rs34542537 TAS1R2 Synonymous SNV P704P 0.016 0.018 0.037 9 19 7 0.023 11 0 0 0 0 1.039 100546 chr2 115919568 115919568 C T DPP10 Nonsynonymous SNV P12L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 100547 chr1 19180871 19180871 T C TAS1R2 Nonsynonymous SNV N365D 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 100548 chr19 47909742 47909742 A G rs370671743 MEIS3 Nonsynonymous SNV Y357H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 100549 chr10 69299372 69299372 T G rs61749224 CTNNA3 Synonymous SNV P116P 0.017 0.016 0.051 6 20 6 0.015 15 0 1 1 0 Benign 5.877 100550 chr1 186313197 186313197 C T rs201004855 TPR Nonsynonymous SNV R1148H 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 Benign 28.1 100551 chr2 120005409 120005409 C T rs142093432 STEAP3 Nonsynonymous SNV T216I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.1 100552 chr1 167814905 167814905 C G rs140892164 ADCY10 Nonsynonymous SNV R815P 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 22 100553 chr19 57868800 57868800 C A ZNF304 Nonsynonymous SNV H521Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 100554 chr9 33941705 33941705 T C rs754355229 UBAP2 Nonsynonymous SNV N571S 0.005 0 0 0 6 0 0 0 0 0 0 0 0.072 100555 chr19 4852206 4852206 G A rs117017052 PLIN3 Synonymous SNV D152D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 1.813 100556 chr2 121726341 121726341 C T rs778102879 GLI2 Nonsynonymous SNV A232V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 100557 chr9 35095310 35095310 G T rs745754359 PIGO Nonsynonymous SNV P85T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.44 100558 chr9 35100658 35100658 G C rs773772067 STOML2 Synonymous SNV A245A 0.004 0 0 0 5 0 0 0 0 0 0 0 3.857 100559 chr1 18014154 18014154 C T rs112508108 ARHGEF10L Synonymous SNV S735S 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 16.34 100560 chr1 180780558 180780558 A T rs754431319 XPR1 Nonsynonymous SNV T233S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 100561 chr2 128408685 128408685 A G rs776778090 GPR17 Nonsynonymous SNV S126G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 100562 chr1 197024971 197024971 C T rs144134146 F13B Nonsynonymous SNV G410R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 9.592 100563 chr9 35906574 35906574 C T rs769659139 HRCT1 Nonsynonymous SNV P97L 0.007 0 0 0 8 0 0 0 0 0 0 0 2.578 100564 chr2 128937391 128937391 A G rs114284257 UGGT1 Nonsynonymous SNV K1283E 0.005 0.005 0.014 0 6 2 0 4 0 0 0 0 22.3 100565 chr1 197621411 197621411 T G DENND1B Nonsynonymous SNV Y134S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 100566 chr1 182921995 182921995 - CTC rs566172305 SHCBP1L E91_P92insE 0.003 0 0 1 3 0 0.003 0 0 0 0 0 100567 chr1 27105900 27105900 T G ARID1A Nonsynonymous SNV F1837L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.41 100568 chr1 27153481 27153481 C T ZDHHC18 Synonymous SNV L62L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.73 100569 chr10 75006501 75006501 G A DNAJC9 Nonsynonymous SNV P89L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.38 100570 chr10 75415605 75415605 C T rs1014721780 SYNPO2L Nonsynonymous SNV E26K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 100571 chr10 75523674 75523674 T C rs151207669 SEC24C Nonsynonymous SNV M387T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 26.9 100572 chr10 75532114 75532114 T C rs137937533 FUT11 Nonsynonymous SNV V8A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.002 100573 chr19 6475892 6475892 G A rs746951264 DENND1C Synonymous SNV H201H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.55 100574 chr1 27683230 27683232 CTT - rs552271487 MAP3K6 K1117del 0.008 0.01 0.01 4 9 4 0.01 3 0 0 1 0 100575 chr10 76970936 76970936 C T rs142791341 VDAC2 Nonsynonymous SNV T7I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.61 100576 chr2 141274477 141274477 T G rs148256177 LRP1B Synonymous SNV G2710G 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 8.629 100577 chr1 186270819 186270819 G A rs769360017 PRG4 Nonsynonymous SNV D58N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 100578 chr1 17609560 17609560 A C rs61731901 PADI3 Nonsynonymous SNV N661H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.493 100579 chr1 201289498 201289498 T C rs78672252 PKP1 Nonsynonymous SNV C446R 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Likely benign 24 100580 chr1 176927486 176927486 C T ASTN1 Synonymous SNV E577E 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.45 100581 chr9 78943039 78943039 C T rs114234833 PCSK5 Nonsynonymous SNV S1458F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 5.967 100582 chr10 86001190 86001190 C T LRIT1 Synonymous SNV R2R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.93 100583 chr1 19441410 19441410 G A rs35307650 UBR4 Synonymous SNV L3699L 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 12.28 100584 chr1 19447693 19447693 C T rs34871324 UBR4 Synonymous SNV K3377K 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 15.65 100585 chr1 19451176 19451176 A T rs35466973 UBR4 Synonymous SNV A3149A 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 7.449 100586 chr1 19504062 19504062 T C rs35444108 UBR4 Nonsynonymous SNV M844V 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Likely benign 0.004 100587 chr1 19545893 19545893 G A rs34350799 EMC1 Synonymous SNV Y940Y 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 10.07 100588 chr2 152551038 152551038 C T rs768295694 NEB Nonsynonymous SNV D594N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 25.2 100589 chr1 178834603 178834603 T C rs34106916 ANGPTL1 Synonymous SNV Q103Q 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 0.035 100590 chr10 88679128 88679128 C T rs759520915 BMPR1A Synonymous SNV P356P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.02 100591 chr1 33361017 33361017 G A TMEM54 Synonymous SNV G141G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 100592 chr10 101451230 101451230 T C rs148606856 ENTPD7 Synonymous SNV I266I 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 10.25 100593 chr1 179965894 179965894 C T CEP350 Nonsynonymous SNV P201L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 100594 chr10 91371636 91371636 G C rs141349233 PANK1 Synonymous SNV V66V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.518 100595 chr1 205812879 205812879 A G rs139066269 PM20D1 Nonsynonymous SNV M248T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 0.001 100596 chr9 86292683 86292683 C A rs146724128 UBQLN1 Nonsynonymous SNV G355V 0.011 0.013 0.017 6 13 5 0.015 5 0 0 0 0 Likely benign 27.2 100597 chr1 35940497 35940497 T G rs151103704 KIAA0319L Nonsynonymous SNV E308D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 100598 chr1 181702076 181702076 A G CACNA1E Nonsynonymous SNV M933V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.009 100599 chr1 200555334 200555334 G A rs752380834 KIF14 Nonsynonymous SNV R555C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 100600 chr9 89561517 89561517 C G rs748874081 GAS1 Nonsynonymous SNV E60Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 100601 chr1 206821104 206821104 T C DYRK3 Synonymous SNV N187N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 100602 chr1 183083739 183083739 C T rs377463630 LAMC1 Synonymous SNV G365G 0.003 0 0 0 4 0 0 0 0 0 0 0 14.13 100603 chr10 96162477 96162477 C T rs748522296 TBC1D12 Nonsynonymous SNV T36M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 100604 chr19 873560 873560 G A rs146141347 MED16 Synonymous SNV N598N 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 12.16 100605 chr1 39879406 39879406 G A rs774253034 KIAA0754 Nonsynonymous SNV A1157T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.58 100606 chr1 40129066 40129066 G A rs4660340 NT5C1A Synonymous SNV S158S 0.014 0.018 0.031 9 16 7 0.023 9 0 0 0 0 11.74 100607 chr10 98127920 98127920 - TCA rs766658292 TLL2 D991_T992insD 0.003 0 0 0 3 0 0 0 0 0 0 0 100608 chr2 170094756 170094756 C A rs146289506 LRP2 Nonsynonymous SNV V1451F 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.52 100609 chr1 40627183 40627183 C T rs147792979 RLF Nonsynonymous SNV R38C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.4 100610 chr10 99125940 99125940 C T RRP12 Nonsynonymous SNV V1048M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 100611 chr1 21306835 21306835 T C rs147705566 EIF4G3 Nonsynonymous SNV N106S 0 0.005 0 0 0 2 0 0 0 0 0 0 2.634 100612 chr1 41327773 41327773 C G rs373815661 CITED4 Nonsynonymous SNV E9D 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 23.4 100613 chr19 52448196 52448196 C T rs187106625 ZNF613 Nonsynonymous SNV R354C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 100614 chr1 20980799 20980799 G A rs34189097 DDOST Synonymous SNV R254R 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 Benign/Likely benign 12.42 100615 chr2 174074510 174074510 C T rs755674062 MAP3K20 Synonymous SNV D266D 0 0 0.007 0 0 0 0 2 0 0 0 0 15.93 100616 chr1 216538391 216538391 C T rs45500891 USH2A Nonsynonymous SNV V230M 0.016 0.013 0 6 19 5 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.9 100617 chr9 101817387 101817387 C T rs753069177 COL15A1 Nonsynonymous SNV P1012L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.3 100618 chr1 196953266 196953266 T C rs140215003 CFHR5 Synonymous SNV T143T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 1.395 100619 chr1 197071358 197071358 G A rs115891952 ASPM Synonymous SNV I2341I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 11.18 100620 chr2 178879181 178879181 G A rs76308115 PDE11A Stop gain R307X 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 36 100621 chr1 197093361 197093361 G A rs16841081 ASPM Nonsynonymous SNV S1090F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 12.81 100622 chr1 197168625 197168625 C A rs10494751 ZBTB41 Nonsynonymous SNV D327Y 0.003 0 0.01 0 3 0 0 3 0 0 0 0 18.16 100623 chr10 102783253 102783253 A G PDZD7 Nonsynonymous SNV M161T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 100624 chr9 105767074 105767074 C T rs145110008 CYLC2 Nonsynonymous SNV A93V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 29.9 100625 chr1 198665872 198665872 A G rs115797104 PTPRC Synonymous SNV P44P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.035 100626 chr10 103825791 103825791 A C HPS6 Nonsynonymous SNV H187P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.5 100627 chr1 22172691 22172691 C T rs377625016 HSPG2 Nonsynonymous SNV V2793M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 17.59 100628 chr1 200534726 200534726 A T rs140834835 KIF14 Nonsynonymous SNV L754M 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.1 100629 chr10 104181632 104181632 A C FBXL15 Nonsynonymous SNV E99A 0.002 0 0 0 2 0 0 0 0 0 0 0 21 100630 chr2 179437221 179437221 A G rs761939297 TTN Synonymous SNV D15481D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.524 100631 chr1 200878489 200878489 A G INAVA Nonsynonymous SNV E308G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 100632 chr1 200967687 200967687 C G rs61740473 KIF21B Synonymous SNV A634A 0.007 0.008 0.014 2 8 3 0.005 4 0 0 0 0 16.14 100633 chr1 200978412 200978412 C T rs7556510 KIF21B Synonymous SNV T82T 0.007 0.008 0.014 2 8 3 0.005 4 0 0 0 0 16.1 100634 chr1 201043702 201043702 G A rs16847664 CACNA1S Synonymous SNV A665A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 14.99 100635 chr10 122668203 122668203 A G WDR11 Nonsynonymous SNV K1218R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.96 100636 chr1 201047078 201047078 C T rs16847669 CACNA1S Synonymous SNV S516S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 17.84 100637 chr1 22150130 22150130 C T rs114015043 HSPG2 Nonsynonymous SNV A4329T 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 100638 chr10 105807928 105807928 T C rs79924817 MIR936 0.004 0 0 2 5 0 0.005 0 0 0 0 0 1.942 100639 chr1 201181045 201181045 G C rs73087062 IGFN1 Nonsynonymous SNV G2342R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23 100640 chr10 106075500 106075500 G A rs114174365 ITPRIP Nonsynonymous SNV R104W 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 24.3 100641 chr1 201355898 201355898 G A rs34370053 LAD1 Synonymous SNV S197S 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 Benign 8.585 100642 chr1 202130556 202130556 A G rs74136747 PTPN7 Nonsynonymous SNV W45R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 15.56 100643 chr1 50884536 50884536 C T rs200890998 DMRTA2 Nonsynonymous SNV S477N 0.016 0.01 0.007 1 19 4 0.003 2 0 0 0 0 16.95 100644 chr1 227963507 227963507 G A rs566590122 SNAP47 Synonymous SNV S422S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.13 100645 chr1 203097975 203097975 G A rs61731145 ADORA1 Synonymous SNV P2P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 12.94 100646 chr1 203276476 203276476 C T rs142553340 BTG2 Synonymous SNV A129A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.46 100647 chr1 203316640 203316640 G A rs77856193 FMOD Synonymous SNV H253H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.513 100648 chr1 204380515 204380515 G C rs759915160 PPP1R15B Nonsynonymous SNV R9G 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 Uncertain significance 27.6 100649 chr1 204415109 204415109 C A PIK3C2B Nonsynonymous SNV D885Y 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 32 100650 chr1 216108128 216108128 T C rs111033394 USH2A Nonsynonymous SNV N2377S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign/Likely benign 14.92 100651 chr19 55758397 55758397 G A rs200237875 PPP6R1 Synonymous SNV P25P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.23 100652 chr1 218609346 218609346 T G TGFB2 Nonsynonymous SNV D263E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 100653 chr1 228565209 228565209 G A rs182714476 OBSCN Nonsynonymous SNV E7767K 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 34 100654 chr1 228461671 228461671 G A rs773958430 OBSCN Nonsynonymous SNV G1780S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 5.938 100655 chr1 22179420 22179420 G A rs566319401 HSPG2 Nonsynonymous SNV R2196W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 100656 chr19 56056869 56056869 G C rs34882755 SBK3 Nonsynonymous SNV P14R 0.02 0.016 0 5 24 6 0.013 0 0 0 0 0 22.1 100657 chr2 203842015 203842015 G A rs6721180 CARF Synonymous SNV G162G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.49 100658 chr9 126133252 126133252 C T rs55965026 CRB2 Synonymous SNV C640C 0.008 0.01 0.01 2 9 4 0.005 3 0 0 0 0 5.816 100659 chr1 230846279 230846279 G A rs751222492 AGT Synonymous SNV V106V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.941 100660 chr1 224345351 224345351 G A rs201363916 FBXO28 Nonsynonymous SNV G337E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.701 100661 chr1 113161692 113161692 G A rs186026192 ST7L Nonsynonymous SNV A15V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.7 100662 chr9 128678097 128678097 C T rs145687528 PBX3 Nonsynonymous SNV A61V 0.021 0.023 0.024 12 25 9 0.031 7 0 0 0 1 26 100663 chr1 212502652 212502652 G A rs538133479 PPP2R5A Synonymous SNV A62A 0.003 0 0 0 4 0 0 0 0 0 0 0 12.7 100664 chr9 130489682 130489682 A G rs148801626 TTC16 Nonsynonymous SNV S555G 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.001 100665 chr19 56733412 56733412 T C rs778235623 ZSCAN5A Synonymous SNV P224P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.095 100666 chr1 233314839 233314839 C T rs192611362 PCNX2 Nonsynonymous SNV R1050H 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 35 100667 chr9 130588091 130588091 C T rs41322046 ENG Nonsynonymous SNV G191D 0.009 0.008 0.003 5 10 3 0.013 1 0 0 0 0 Benign/Likely benign 23.9 100668 chr1 214492289 214492289 T G rs61755311 SMYD2 Nonsynonymous SNV F166C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 100669 chr1 214549699 214549699 T C rs80056850 PTPN14 Nonsynonymous SNV I924V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.47 100670 chr9 131021322 131021322 G A rs72756867 GOLGA2 Nonsynonymous SNV R674W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.2 100671 chr9 131028255 131028255 C T rs41276660 GOLGA2 Synonymous SNV Q203Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 4.006 100672 chr9 131088076 131088076 G A rs2270203 COQ4 Nonsynonymous SNV R74Q 0.02 0.018 0.017 12 24 7 0.031 5 0 0 0 0 Benign 7.608 100673 chr1 7724605 7724605 C G rs141192116 CAMTA1 Nonsynonymous SNV I636M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.857 100674 chr19 57328001 57328001 - TCACGT rs766459211 PEG3 R449_G450insER 0 0.003 0.003 0 0 1 0 1 0 0 0 0 100675 chr1 240070827 240070827 G A rs200014816 CHRM3 Nonsynonymous SNV D26N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.136 100676 chr2 215301460 215301460 A G VWC2L Synonymous SNV Q166Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.555 100677 chr1 215901531 215901531 T A rs61635304 USH2A Synonymous SNV P3969P 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 12.38 100678 chr1 215901702 215901702 C T rs56053654 USH2A Synonymous SNV E3912E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 15.3 100679 chr11 721122 721122 G T rs201479451 EPS8L2 Nonsynonymous SNV A206S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.49 100680 chr1 241823862 241823862 C T rs150170869 WDR64 Nonsynonymous SNV S59L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.8 100681 chr1 241886717 241886717 C T rs10926547 WDR64 Synonymous SNV V391V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.8 100682 chr11 824755 824755 G A rs374358848 PNPLA2 Nonsynonymous SNV A470T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 1.01 100683 chr9 132632117 132632117 T G USP20 Nonsynonymous SNV I520S 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 24.7 100684 chr1 220101267 220101267 G C rs539271108 SLC30A10 Synonymous SNV G172G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.373 100685 chr19 58491236 58491236 - C ZNF606 Stop gain Y181* 0 0.003 0 0 0 1 0 0 0 0 0 0 100686 chr2 218762616 218762616 C T rs41272679 TNS1 Nonsynonymous SNV V25I 0.008 0.005 0.014 6 9 2 0.015 4 0 0 0 0 28.2 100687 chr19 5866627 5866627 C T rs377049009 FUT5 Synonymous SNV A370A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 100688 chr1 22170681 22170681 G A rs139855779 HSPG2 Nonsynonymous SNV T2860M 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 100689 chr10 135084781 135084781 G A rs12257830 ADAM8 Nonsynonymous SNV R394C 0.001 0 0 6 1 0 0.015 0 0 0 0 0 Benign 27.9 100690 chr1 120293430 120293430 C T rs76773981 HMGCS2 Nonsynonymous SNV V466I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.047 100691 chr1 228509430 228509430 G A rs186895476 OBSCN Nonsynonymous SNV R4963H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.004 100692 chr1 241798899 241798899 G T rs746250454 CHML Nonsynonymous SNV S57Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25 100693 chr9 136256512 136256512 G T STKLD1 Nonsynonymous SNV D175Y 0.006 0 0 1 7 0 0.003 0 0 0 0 0 25.4 100694 chr1 23289703 23289703 A G rs6426777 LACTBL1 Nonsynonymous SNV L52P 0.023 0.013 0.031 7 27 5 0.018 9 2 0 1 1 2.944 100695 chr1 226110062 226110062 G A rs149894811 PYCR2 Nonsynonymous SNV R54C 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 100696 chr1 226352507 226352507 T C rs149088607 ACBD3 Synonymous SNV E184E 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 2.304 100697 chr1 247054344 247054344 T C rs143883846 AHCTF1 Nonsynonymous SNV N655S 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 8.099 100698 chr1 227071413 227071413 A G rs143501870 PSEN2 Nonsynonymous SNV Q50R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.99 100699 chr1 227172593 227172593 T C rs1057519343 COQ8A Nonsynonymous SNV F508S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Pathogenic 29.2 100700 chr1 228345624 228345624 T C rs955563527 GJC2 Synonymous SNV T55T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.021 100701 chr19 804921 804921 C T rs12151090 PTBP1 Synonymous SNV S233S 0.005 0.005 0.02 5 6 2 0.013 6 0 0 0 0 Benign 16.12 100702 chr9 139639715 139639715 G T rs201224621 LCN6 Nonsynonymous SNV L107I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 7.94 100703 chr2 232322400 232322400 T C rs142382567 NCL Synonymous SNV K467K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.299 100704 chr1 23756417 23756417 T C rs200298634 ASAP3 Nonsynonymous SNV I873V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 100705 chr19 8182174 8182174 G A rs118050938 FBN3 Synonymous SNV D1155D 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 5.781 100706 chr2 232373610 232373610 A - rs34321159 LINC00471 0 0 0.027 0 0 0 0 8 0 0 3 0 100707 chr1 248551009 248551009 G A rs41308164 OR2T6 Nonsynonymous SNV V34I 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 0.002 100708 chr11 1017032 1017032 G A MUC6 Synonymous SNV S1923S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.764 100709 chr11 1017041 1017043 GTA - MUC6 Y1920del 0.001 0 0 0 1 0 0 0 0 0 0 0 100710 chr11 1017045 1017045 - T MUC6 Frameshift insertion P1919Hfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 100711 chr1 241886690 241886690 C T rs146321451 WDR64 Synonymous SNV I382I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 100712 chr2 234197368 234197368 G A rs181161987 SCARNA6 0 0 0.01 0 0 0 0 3 0 0 0 0 0.998 100713 chr2 234432123 234432123 G A rs146371325 USP40 Nonsynonymous SNV H631Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 100714 chr1 229772361 229772362 CT - URB2 L669Wfs*21 0.002 0 0 0 2 0 0 0 0 0 0 0 100715 chr1 230561489 230561489 G T PGBD5 Nonsynonymous SNV D62E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.543 100716 chr1 230841891 230841891 G A rs61757178 AGT Synonymous SNV N304N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 8.913 100717 chr19 8654453 8654453 G A rs782589097 ADAMTS10 Synonymous SNV C126C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.348 100718 chr9 139934859 139934859 C T rs7043416 NPDC1 Synonymous SNV A246A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 19.89 100719 chr19 872065 872065 G A rs749042739 MED16 Synonymous SNV G653G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.595 100720 chr1 26670401 26670401 G A rs41285435 CRYBG2 Synonymous SNV T916T 0.006 0.018 0.014 3 7 7 0.008 4 0 0 0 0 13.19 100721 chr1 26670650 26670650 - TCC rs199784730 CRYBG2 E833_P834insE 0.006 0.018 0.01 3 7 7 0.008 3 0 0 0 0 100722 chr1 231829577 231829577 C T rs769854975 DISC1 Nonsynonymous SNV R25W 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 24.4 100723 chr1 2322965 2322965 G C MORN1 Nonsynonymous SNV A3G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 17.36 100724 chr2 235950386 235950386 A G rs146954105 SH3BP4 Nonsynonymous SNV S325G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.187 100725 chr19 8999446 8999446 T C rs201254514 MUC16 Nonsynonymous SNV S13577G 0.011 0.013 0 7 13 5 0.018 0 0 0 0 0 0.004 100726 chr2 238642460 238642460 G T rs201910589 LRRFIP1 Nonsynonymous SNV R163L 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 10.28 100727 chr1 26153204 26153204 G A rs202216681 MTFR1L Nonsynonymous SNV R113K 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 17.36 100728 chr1 247464244 247464244 G A rs150468780 ZNF496 Synonymous SNV S447S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 15.68 100729 chr1 28661074 28661074 C T rs139242087 MED18 Nonsynonymous SNV R74C 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Likely benign 34 100730 chr1 26368261 26368261 G A rs1316852 SLC30A2 Synonymous SNV F207F 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 13.79 100731 chr1 156262967 156262967 C T GLMP Nonsynonymous SNV G278R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.61 100732 chr1 26393974 26393974 C T rs3795690 TRIM63 Synonymous SNV K4K 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 15.16 100733 chr10 428616 428616 C T rs142691003 DIP2C Synonymous SNV S654S 0.009 0 0 4 11 0 0.01 0 0 0 0 0 Likely benign 17.48 100734 chr10 518479 518479 T C rs144322963 DIP2C Synonymous SNV Q56Q 0.011 0.005 0.007 4 13 2 0.01 2 0 0 0 0 Benign 0.01 100735 chr2 239049403 239049403 G A rs371686600 KLHL30 Nonsynonymous SNV R3Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 100736 chr11 3845148 3845148 C T rs562469687 PGAP2 Nonsynonymous SNV R109W 0 0 0 1 0 0 0.003 0 0 0 0 0 14.89 100737 chr1 26612023 26612023 G T rs375383675 UBXN11 Synonymous SNV R142R 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 13.48 100738 chr2 239051536 239051536 G A rs200997675 KLHL30 Nonsynonymous SNV G291S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 10.32 100739 chr2 239056505 239056505 G A rs74571983 KLHL30 Nonsynonymous SNV S394N 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 18.9 100740 chr2 239134124 239134124 C T rs183140575 LINC02610 0 0 0.007 0 0 0 0 2 0 0 0 0 3.514 100741 chr2 239139979 239139979 A G rs13414026 LINC02610 0 0 0.034 0 0 0 0 10 0 0 0 0 7.695 100742 chr2 239140025 239140025 G C rs114769095 LINC02610 0 0 0.01 0 0 0 0 3 0 0 0 0 2.711 100743 chr1 26671506 26671658 ACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCACGACCTCTTTCCAGGTGGGGAACAAGGCAGCAGGAGCACTGGACCCCTGCACCACCTCCTTCTGGGTGGGAGATGAGGCAGCAGGAGCACCAGGGCCCTTCACG - CRYBG2 S519_S569del 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 100744 chr10 5141619 5141619 A G rs61730879 AKR1C3 Nonsynonymous SNV K183R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20 100745 chr1 27219888 27219888 T C rs143514053 GPATCH3 Nonsynonymous SNV Y368C 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 28.3 100746 chr1 27689476 27689476 A C rs139373022 MAP3K6 Synonymous SNV S328S 0.004 0.005 0.007 6 5 2 0.015 2 0 0 0 0 0.002 100747 chr10 5782310 5782310 G A rs61731328 TASOR2 Nonsynonymous SNV R645H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.807 100748 chr2 241569742 241569742 C A rs34778053 GPR35 Nonsynonymous SNV R125S 0.015 0.018 0.02 4 18 7 0.01 6 1 0 0 0 24.3 100749 chr20 2411103 2411103 C T rs200674917 TGM6 Nonsynonymous SNV P564S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 23 100750 chr20 2542508 2542508 T C rs753551245 TMC2 Nonsynonymous SNV S136P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.961 100751 chr1 2939014 2939014 C T rs754828875 ACTRT2 Nonsynonymous SNV P255L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 100752 chr1 241815909 241815909 A G rs772563092 WDR64 Synonymous SNV A41A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.934 100753 chr10 7780669 7780669 G A rs755345680 ITIH2 Synonymous SNV L681L 0.005 0 0 0 6 0 0 0 0 0 0 0 0.556 100754 chr10 8006514 8006514 A G rs750967914 TAF3 Synonymous SNV T347T 0.006 0 0 0 7 0 0 0 0 0 0 0 0.001 100755 chr1 31897692 31897692 C T rs183001614 SERINC2 Nonsynonymous SNV R126W 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 24 100756 chr1 242023882 242023882 G A rs149397534 EXO1 Nonsynonymous SNV G274R 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 34 100757 chr2 242498220 242498220 C A rs186908585 BOK-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 12.01 100758 chr11 2416705 2416705 T C rs143644902 CD81 Synonymous SNV D67D 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 0.919 100759 chr10 13151270 13151270 G A rs28939688 OPTN Nonsynonymous SNV E50K 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Pathogenic 32 100760 chr1 33560216 33560216 G A rs141134478 AZIN2 Nonsynonymous SNV V124M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 100761 chr1 245775183 245775183 A G rs199839162 KIF26B Nonsynonymous SNV Q668R 0.014 0.01 0.007 7 16 4 0.018 2 0 0 0 0 11.62 100762 chr11 2631699 2631700 TT - KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 100763 chr11 2683177 2683177 C T rs28730758 KCNQ1OT1 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 Benign/Likely benign 6.734 100764 chr2 25523096 25523096 T G rs143730975 DNMT3A Nonsynonymous SNV E30A 0.004 0.005 0.007 5 5 2 0.013 2 0 0 0 0 Benign/Likely benign 23.1 100765 chr1 159897950 159897950 C T IGSF9 Synonymous SNV K1076K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.45 100766 chr1 34090765 34090765 T C rs147528807 CSMD2 Nonsynonymous SNV I1796V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.002 100767 chr11 3249162 3249162 G A rs191846883 MRGPRE Synonymous SNV L290L 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 0.934 100768 chr20 3183876 3183876 T G DDRGK1 Nonsynonymous SNV E93A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.656 100769 chr1 160535309 160535309 G A rs41266919 CD84 Synonymous SNV N91N 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 0.051 100770 chr1 40737681 40737681 C G rs121908095 ZMPSTE24 Nonsynonymous SNV P248R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.3 100771 chr2 27257075 27257075 C T rs372876668 TMEM214 Nonsynonymous SNV P98S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 100772 chr20 32247528 32247528 T C rs369641094 NECAB3 Synonymous SNV S218S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.258 100773 chr10 18834869 18834869 C A NSUN6 Nonsynonymous SNV S327I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 100774 chr1 36556934 36556934 G A rs144958655 ADPRHL2 Nonsynonymous SNV A101T 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 31 100775 chr1 36565679 36565679 G A rs144972483 COL8A2 Synonymous SNV P55P 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 11.84 100776 chr20 33588659 33588659 G A rs769064302 MYH7B Nonsynonymous SNV R1798Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 100777 chr1 103354135 103354135 G C rs139064549 COL11A1 Nonsynonymous SNV P1420A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 23.9 100778 chr20 35812668 35812668 C T rs62206558 RPN2 Synonymous SNV D33D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 100779 chr20 36031634 36031634 C T rs750108303 SRC Nonsynonymous SNV P488L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 100780 chr1 38227708 38227708 C A rs149376476 EPHA10 Synonymous SNV T73T 0.002 0.005 0.003 6 2 2 0.015 1 0 0 0 0 12.26 100781 chr1 27878415 27878415 G A rs199719452 AHDC1 Nonsynonymous SNV T71I 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign/Likely benign 24.6 100782 chr2 29294253 29294253 C T rs192350796 PCARE Nonsynonymous SNV A959T 0.002 0 0.017 0 2 0 0 5 0 0 0 0 Benign 8.522 100783 chr2 29295186 29295186 C T rs75276619 PCARE Nonsynonymous SNV A648T 0.008 0.008 0.024 1 9 3 0.003 7 0 0 0 0 Benign 6.89 100784 chr1 109795742 109795742 T A rs115856488 CELSR2 Nonsynonymous SNV L1014H 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Likely benign 24.9 100785 chr1 248153683 248153683 A G rs139725484 OR2L1P 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 4.706 100786 chr1 109910100 109910100 T C rs61797119 SORT1 Nonsynonymous SNV I124V 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 15.28 100787 chr20 36888741 36888741 C T rs145582338 LOC149684 0.01 0 0.007 3 12 0 0.008 2 0 0 0 0 9.12 100788 chr2 31010132 31010132 G T rs186665118 CAPN13 Nonsynonymous SNV D20E 0.004 0.005 0.017 3 5 2 0.008 5 0 0 0 0 24.8 100789 chr2 31570507 31570507 T C rs960392662 XDH Nonsynonymous SNV R1053G 0 0 0.007 0 0 0 0 2 0 0 0 0 27.9 100790 chr1 46496400 46496400 G A rs200632993 MAST2 Nonsynonymous SNV R892Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 100791 chr1 46501495 46501495 T C rs78425310 MAST2 Synonymous SNV Y1717Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.001 100792 chr1 11155819 11155819 C T rs756142912 EXOSC10 Nonsynonymous SNV R123K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 100793 chr1 46521532 46521532 A G rs61751015 LOC110117498-PIK3R3, PIK3R3 Synonymous SNV D136D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 5.308 100794 chr20 40743945 40743945 A G rs41310016 PTPRT Nonsynonymous SNV V998A 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 23.5 100795 chr20 41076932 41076932 C G rs146227148 PTPRT Synonymous SNV G496G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.61 100796 chr2 3483185 3483185 G A rs200902586 TRAPPC12 Nonsynonymous SNV G721S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 100797 chr2 37032617 37032617 C T VIT Nonsynonymous SNV S364F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 100798 chr1 33945259 33945259 G A rs372407585 ZSCAN20 Nonsynonymous SNV A124T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 100799 chr1 43636508 43636508 G A rs1006882863 EBNA1BP2 Synonymous SNV R122R 0 0.005 0 3 0 2 0.008 0 0 0 0 0 8.948 100800 chr1 3409205 3409205 T A MEGF6 Nonsynonymous SNV E1505V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 100801 chr1 26386817 26386817 C T rs756043069 TRIM63 Synonymous SNV A179A 0.003 0 0 0 3 0 0 0 0 0 0 0 19.62 100802 chr1 43907199 43907199 G A rs1054588581 SZT2 Synonymous SNV E2455E 0 0.005 0 3 0 2 0.008 0 0 0 0 0 5.744 100803 chr1 52269601 52269601 G A rs56250500 NRDC Nonsynonymous SNV T733M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.5 100804 chr1 53542998 53542998 C A rs138853761 PODN Nonsynonymous SNV L240M 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 27.8 100805 chr1 53746320 53746320 C T rs75624781 LRP8 Synonymous SNV S145S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 16.6 100806 chr1 45293709 45293709 G A rs11573586 PTCH2 Nonsynonymous SNV H622Y 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 Benign 15.75 100807 chr1 3679886 3679886 C T rs11806371 CCDC27 Nonsynonymous SNV P390L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.408 100808 chr2 47643476 47643476 C T rs4987189 MSH2 Synonymous SNV A328A 0.006 0.008 0.014 0 7 3 0 4 0 0 0 0 Likely benign 16.86 100809 chr2 47698179 47698179 A G rs61756467 MSH2 Synonymous SNV K579K 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 Likely benign 5.68 100810 chr2 47748741 47748741 G A rs200300645 KCNK12 Nonsynonymous SNV L200F 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 15.97 100811 chr1 3697700 3697700 G A rs6694319 LRRC47 Synonymous SNV S568S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 10.56 100812 chr20 46265053 46265053 C G rs775583331 NCOA3 Synonymous SNV P641P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.225 100813 chr1 2938955 2938955 G A rs753013139 ACTRT2 Synonymous SNV P235P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.234 100814 chr1 58946696 58946696 T G OMA1 Nonsynonymous SNV I506L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 2.402 100815 chr1 59042492 59042492 G A TACSTD2 Nonsynonymous SNV R113C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 28.6 100816 chr1 39877765 39877765 G T rs757277064 KIAA0754 Nonsynonymous SNV V610F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 100817 chr11 10327547 10327547 C G rs5005 ADM Nonsynonymous SNV S50R 0.006 0.005 0.02 3 7 2 0.008 6 0 0 0 0 Benign 22.7 100818 chr1 180165609 180165609 G A rs778712755 QSOX1 Nonsynonymous SNV A561T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.033 100819 chr1 1190685 1190685 G A rs41303853 UBE2J2 Synonymous SNV H174H 0.014 0.021 0 4 17 8 0.01 0 0 0 0 0 10.98 100820 chr1 60019796 60019796 G T rs142088608 FGGY Nonsynonymous SNV G179V 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 29.3 100821 chr1 32713241 32713241 C T rs11567839 FAM167B Synonymous SNV F73F 0.003 0 0 0 4 0 0 0 0 0 0 0 10.81 100822 chr1 53668100 53668100 G A rs778017005 CPT2 Synonymous SNV S113S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 12.91 100823 chr10 54530469 54530469 C T rs751877822 MBL2 Nonsynonymous SNV G89R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.6 100824 chr1 1342578 1342578 T A MRPL20 Nonsynonymous SNV Q7L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.071 100825 chr11 6568867 6568867 G A rs148105430 DNHD1 Nonsynonymous SNV R2233H 0.004 0 0 0 5 0 0 0 0 0 0 0 0.682 100826 chr11 6578788 6578788 C T rs111982303 DNHD1 Nonsynonymous SNV P2755S 0.021 0.008 0.027 4 25 3 0.01 8 1 0 0 0 0.002 100827 chr1 63027312 63027312 A G rs373811323 DOCK7 Synonymous SNV V725V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.24 100828 chr11 6622218 6622218 G A rs17834692 RRP8 Nonsynonymous SNV P329S 0.019 0.003 0.027 3 22 1 0.008 8 0 0 0 0 15.66 100829 chr2 71160180 71160180 C A rs140956448 VAX2 Nonsynonymous SNV P240Q 0.002 0.005 0.02 1 2 2 0.003 6 0 0 0 0 17.28 100830 chr10 61834566 61834566 C T rs368843645 ANK3 Nonsynonymous SNV E2025K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.4 100831 chr1 35847032 35847032 G A rs34924462 ZMYM4 Nonsynonymous SNV V128I 0.027 0.026 0.003 6 32 10 0.015 1 1 0 0 0 14.19 100832 chr1 43102987 43102987 C T rs151164613 CCDC30 Stop gain R526X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 44 100833 chr1 186278009 186278009 G T rs149799261 PRG4 Nonsynonymous SNV R919L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.03 100834 chr1 3713021 3713021 G A rs1003873088 LRRC47 Nonsynonymous SNV S7L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.11 100835 chr2 74642265 74642265 - CGCGGAGGGGCGGGTGGCGCCGCC rs768089535 C2orf81 A251_S252insGGATRPSA 0.009 0.005 0.017 2 10 2 0.005 5 1 0 0 0 100836 chr10 70450582 70450582 G A rs150708897 TET1 Nonsynonymous SNV V1808M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 4.781 100837 chr1 5925304 5925304 G A rs144624477 NPHP4 Nonsynonymous SNV T713M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 22.1 100838 chr2 74763258 74763258 C G rs17010022 LOXL3 Synonymous SNV L10L 0.003 0.005 0.003 3 4 2 0.008 1 1 0 0 0 5.275 100839 chr1 44605846 44605846 G A rs866208764 KLF18 Synonymous SNV Y486Y 0.01 0.003 0 6 12 1 0.015 0 0 0 0 0 0.591 100840 chr11 18387342 18387342 A G rs61754646 GTF2H1 Nonsynonymous SNV I525V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 13.52 100841 chr1 45276242 45276242 C T rs183942444 BTBD19 Nonsynonymous SNV T106I 0.008 0.008 0.003 5 9 3 0.013 1 0 0 0 0 24 100842 chr1 45278896 45278896 G A rs558255496 BTBD19 Synonymous SNV E190E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.476 100843 chr1 6111718 6111718 G A rs530635823 KCNAB2 Nonsynonymous SNV R41Q 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 23.9 100844 chr1 74621438 74621438 A G rs772702992 LRRIQ3 Nonsynonymous SNV F229S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.1 100845 chr1 151378274 151378274 G A rs149003420 POGZ Synonymous SNV H984H 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 Benign/Likely benign 0.797 100846 chr10 72298680 72298680 C T rs45576535 PALD1 Synonymous SNV L495L 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 9.298 100847 chr1 41094496 41094496 C T rs150447957 RIMS3 Nonsynonymous SNV G234S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 33 100848 chr1 196963244 196963244 T C rs139260377 CFHR5 Synonymous SNV N155N 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 0.083 100849 chr1 46978131 46978131 G A rs775225684 DMBX1 Nonsynonymous SNV A372T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 100850 chr1 41618297 41618297 G A rs114233776 SCMH1 Nonsynonymous SNV P17L 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 15.55 100851 chr1 6642357 6642357 C A ZBTB48 Nonsynonymous SNV N310K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.6 100852 chr20 61981603 61981603 T C rs45604738 CHRNA4 Nonsynonymous SNV E387G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.163 100853 chr20 61981605 61981605 G C rs45564639 CHRNA4 Synonymous SNV P386P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.033 100854 chr20 62162120 62162120 G A rs771055635 PTK6 Synonymous SNV F331F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.171 100855 chr1 154842202 154842202 - GCTGCT KCNN3 Q80_P81insQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 100856 chr1 44085002 44085002 A G rs763422012 PTPRF Nonsynonymous SNV M1260V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 100857 chr1 54059984 54059984 G C rs375343014 GLIS1 Nonsynonymous SNV R198G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 100858 chr10 77159215 77159215 G A rs17850767 ZNF503 Synonymous SNV S411S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.47 100859 chr1 155039270 155039270 C T rs148289726 EFNA4 Nonsynonymous SNV H60Y 0.012 0.008 0.003 1 14 3 0.003 1 0 0 0 0 25.1 100860 chr1 55096445 55096445 G A ACOT11 Synonymous SNV S556S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.114 100861 chr1 46032307 46032307 G A rs61751012 AKR1A1 Nonsynonymous SNV G51S 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 Benign 22.2 100862 chr1 880923 880923 G A rs376096805 NOC2L Synonymous SNV D676D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.117 100863 chr1 75055686 75055686 T A ERICH3 Nonsynonymous SNV D602V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.05 100864 chr1 156023484 156023484 C T rs780122617 UBQLN4 Synonymous SNV E3E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 100865 chr3 10401709 10401709 G C rs750508666 ATP2B2 Synonymous SNV P541P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.13 100866 chr1 156444988 156444988 C T rs200731594 MEF2D Synonymous SNV S299S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.98 100867 chr1 57351704 57351704 G T rs147513844 C8A Nonsynonymous SNV E320D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Likely benign 14.68 100868 chr3 110912135 110912135 A T rs193104048 NECTIN3 Nonsynonymous SNV Q458L 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 22.9 100869 chr10 91200973 91200973 A C SLC16A12 Nonsynonymous SNV C114G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.3 100870 chr11 46890196 46890196 C T rs368124164 LRP4 Nonsynonymous SNV V1636I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 100871 chr1 52238365 52238365 G A rs759291387 OSBPL9 Synonymous SNV S202S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.39 100872 chr10 91498041 91498041 C T rs117564945 KIF20B Nonsynonymous SNV A1148V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 5.691 100873 chr1 53544219 53544219 G A rs148954257 PODN Nonsynonymous SNV R394Q 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 2.971 100874 chr11 47202113 47202113 G T PACSIN3 Nonsynonymous SNV Q114K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 100875 chr10 91520368 91520368 T A rs117258675 KIF20B Nonsynonymous SNV F1589Y 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 1.908 100876 chr3 112292769 112292769 A T rs142275743 SLC35A5 Nonsynonymous SNV I14L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 100877 chr1 86834369 86834369 T C rs75376884 ODF2L Nonsynonymous SNV M365V 0.01 0.008 0.003 4 12 3 0.01 1 0 0 0 0 2.406 100878 chr1 86848019 86848019 C T rs12032435 ODF2L Nonsynonymous SNV R46H 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 33 100879 chr1 55096492 55096492 G A rs377475734 ACOT11 Nonsynonymous SNV R572H 0.003 0 0 0 3 0 0 0 0 0 0 0 6.912 100880 chr1 205538254 205538254 C T rs144977463 MFSD4A Synonymous SNV L19L 0.009 0 0.007 5 10 0 0.013 2 0 0 0 0 14.16 100881 chr11 47758180 47758182 TTC - rs768036279 FNBP4 E525del 0 0 0 1 0 0 0.003 0 0 0 0 0 100882 chr11 26463582 26463582 C T rs61746297 ANO3 Nonsynonymous SNV S55F 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Benign 28.8 100883 chr10 96826966 96826966 C T rs11572081 CYP2C8 Synonymous SNV K58K 0.006 0 0 0 7 0 0 0 0 0 0 0 16.51 100884 chr10 96970475 96970475 A G rs7090248 ACSM6 Nonsynonymous SNV K227R 0.006 0 0 0 7 0 0 0 0 0 0 0 12.57 100885 chr1 94568675 94568675 T C rs62646863 ABCA4 Nonsynonymous SNV I156V 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.706 100886 chr10 97445336 97445336 T C rs200042949 TCTN3 Nonsynonymous SNV T316A 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 16.25 100887 chr21 33711126 33711126 G A rs141550612 URB1 Nonsynonymous SNV T1467M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 11.64 100888 chr3 119133180 119133180 G A rs774721494 ARHGAP31 Nonsynonymous SNV G802S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.121 100889 chr1 9775972 9775972 T A rs142285826 PIK3CD Nonsynonymous SNV F146I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 16.06 100890 chr1 15894325 15894325 C T rs61750326 DNAJC16 Synonymous SNV L356L 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 10.78 100891 chr1 92187611 92187611 T A rs752812457 TGFBR3 Nonsynonymous SNV N326Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 100892 chr20 1276898 1276898 C T rs1054296323 SNPH Synonymous SNV G5G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.93 100893 chr11 35232869 35232869 C T rs149768341 CD44 Synonymous SNV T248T 0.007 0.01 0.007 8 8 4 0.021 2 0 0 0 0 Benign 1.628 100894 chr1 74667010 74667010 G A FPGT, FPGT-TNNI3K Nonsynonymous SNV G100R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 100895 chr3 121616270 121616270 T - SLC15A2 W77Gfs*40 0 0 0.003 0 0 0 0 1 0 0 0 0 100896 chr1 212988444 212988444 G A rs113471065 TATDN3 Synonymous SNV T236T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.67 100897 chr1 213405593 213405593 C T rs116671995 RPS6KC1 Nonsynonymous SNV A110V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.58 100898 chr20 1517857 1517857 T C rs149918051 SIRPD Nonsynonymous SNV N174S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.003 100899 chr1 76397784 76397784 C T rs767340808 ASB17 Nonsynonymous SNV A65T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 100900 chr1 160535471 160535471 G C rs35600010 CD84 Synonymous SNV V37V 0.014 0.013 0.024 10 16 5 0.026 7 0 0 0 0 8.635 100901 chr1 16060343 16060343 G A rs369250576 PLEKHM2 Nonsynonymous SNV E992K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.8 100902 chr1 16073524 16073524 - GA rs201466858 TMEM82 Frameshift insertion L308Tfs*106 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 100903 chr3 123359207 123359207 C T rs56056823 MYLK Synonymous SNV P1412P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 17.89 100904 chr1 16073525 16073525 C T rs114267265 TMEM82 Synonymous SNV T307T 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 10.31 100905 chr1 16073527 16073527 - G rs199908593 TMEM82 Frameshift insertion L309Afs*2 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 100906 chr20 15948230 15948230 G C rs150617904 MACROD2 Nonsynonymous SNV G79R 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 1.919 100907 chr1 979043 979043 G A rs370516291 AGRN Nonsynonymous SNV E577K 0.005 0.008 0 0 6 3 0 0 0 0 0 0 24.1 100908 chr1 16101332 16101332 G A rs114077715 FBLIM1 Nonsynonymous SNV G311R 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 9.947 100909 chr21 42780033 42780033 G A rs200709115 MX2 Nonsynonymous SNV R674H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.405 100910 chr3 124157772 124157772 G A rs547990015 KALRN Nonsynonymous SNV R1027Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 100911 chr11 47330224 47330224 G A rs755092231 MADD Nonsynonymous SNV R1199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 100912 chr3 125735679 125735679 G A rs150700000 SLC41A3 Nonsynonymous SNV A226V 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 3.509 100913 chr1 67559267 67559267 G C rs145161779 C1orf141 Nonsynonymous SNV P217R 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 1.625 100914 chr3 125865723 125865723 G A rs144099397 ALDH1L1 Nonsynonymous SNV S243F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 100915 chr20 17606183 17606183 C T rs150242501 RRBP1 Nonsynonymous SNV V1010I 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 18.44 100916 chr20 18005493 18005493 G T OVOL2 Synonymous SNV A73A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 7.364 100917 chr1 216380754 216380754 C T rs767648070 USH2A Synonymous SNV P1059P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.49 100918 chr10 105037385 105037385 C T rs61731088 INA Synonymous SNV V139V 0.025 0.013 0.031 7 29 5 0.018 9 1 0 0 0 20.4 100919 chr10 105037853 105037853 C T rs7096855 INA Synonymous SNV N295N 0.025 0.013 0.031 7 29 5 0.018 9 1 0 0 0 14.93 100920 chr20 18805976 18805976 C T rs117677341 C20orf78 0.02 0.023 0.014 14 24 9 0.036 4 0 0 0 0 8.404 100921 chr3 129156717 129156717 A G rs2307296 MBD4 Nonsynonymous SNV C61R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.556 100922 chr1 7798367 7798367 C T rs137974312 CAMTA1 Nonsynonymous SNV T379I 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 Benign/Likely benign 20.2 100923 chr1 87045631 87045631 G A rs374250322 CLCA4 Nonsynonymous SNV R788H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.97 100924 chr20 19956322 19956322 C T rs535986877 RIN2 Synonymous SNV T551T 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 11.54 100925 chr20 20553672 20553672 G T rs539866650 RALGAPA2 Synonymous SNV A916A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.243 100926 chr1 89478932 89478932 A G rs779488259 GBP3 Synonymous SNV C134C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.229 100927 chr3 132345603 132345603 G A rs369005281 ACAD11 Nonsynonymous SNV R377W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.8 100928 chr1 224621761 224621761 C T rs964228171 WDR26 Nonsynonymous SNV G16D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.432 100929 chr1 225355682 225355682 C G DNAH14 Nonsynonymous SNV N1829K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 100930 chr20 25271176 25271176 C T rs199853551 PYGB Synonymous SNV D629D 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 11.73 100931 chr1 916334 916334 C G PERM1 Nonsynonymous SNV G26R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.43 100932 chr20 19193519 19193519 - CGC SLC24A3 R20_D21insR 0 0.003 0 0 0 1 0 0 0 0 0 0 100933 chr20 2591122 2591122 G A rs150688244 TMC2 Nonsynonymous SNV A491T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 29.7 100934 chr10 119043295 119043295 C T rs41314485 PDZD8 Synonymous SNV E983E 0.017 0.008 0.007 9 20 3 0.023 2 0 0 0 0 8.379 100935 chr1 17380494 17380494 G A rs147815442 SDHB Synonymous SNV L7L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 9.898 100936 chr1 226342369 226342369 C T rs767531352 ACBD3 Nonsynonymous SNV A357T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 22 100937 chr20 21492649 21492649 A G NKX2-2 Nonsynonymous SNV M245T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.25 100938 chr20 3090884 3090884 C A rs34606078 UBOX5 Nonsynonymous SNV G497C 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 15.86 100939 chr20 23350290 23350290 G A rs144872945 GZF1 Nonsynonymous SNV R566H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 21.1 100940 chr20 31374337 31374337 C T rs199763590 DNMT3B Synonymous SNV S112S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 15.35 100941 chr22 17589955 17589955 G A rs375421722 IL17RA Nonsynonymous SNV G582S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 100942 chr10 124395676 124395676 C T rs201079729 DMBT1 Nonsynonymous SNV R1483W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 100943 chr3 145828192 145828192 T C rs200569129 PLOD2 Nonsynonymous SNV K128E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Uncertain significance 27.5 100944 chr3 14724327 14724327 G A rs143413202 C3orf20 Nonsynonymous SNV G36D 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 100945 chr22 18305790 18305790 T C rs748767631 MICAL3 Nonsynonymous SNV D1077G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 100946 chr22 18355586 18355586 G A rs201909654 MICAL3 Nonsynonymous SNV S847L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 100947 chr22 18355587 18355587 A G rs200184189 MICAL3 Nonsynonymous SNV S847P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 100948 chr1 228476420 228476420 C T rs56367754 OBSCN Synonymous SNV P3390P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 13.83 100949 chr20 32328725 32328725 G A rs762048796 ZNF341 Nonsynonymous SNV V17I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 32 100950 chr22 19702147 19702147 G A rs370608296 SEPTIN5 Synonymous SNV A12A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 12.59 100951 chr3 151046506 151046506 G T rs144128158 P2RY13 Nonsynonymous SNV A113D 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 5.697 100952 chr22 19958814 19958814 G A rs200872144 ARVCF Synonymous SNV P942P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.57 100953 chr20 34278343 34278343 C T NFS1 Nonsynonymous SNV D185N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.8 100954 chr20 34797640 34797640 C T rs151261027 EPB41L1 Synonymous SNV F559F 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 13.26 100955 chr1 182419303 182419303 G A rs760106924 RGSL1 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 100956 chr1 230386238 230386238 A C rs78164071 GALNT2 Nonsynonymous SNV D276A 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 22.9 100957 chr22 21331032 21331032 C T rs139501949 AIFM3 Nonsynonymous SNV R375C 0.004 0 0 0 5 0 0 0 0 0 0 0 32 100958 chr1 230561389 230561389 C A rs113202442 PGBD5 Nonsynonymous SNV A96S 0.01 0.005 0.024 5 12 2 0.013 7 3 1 2 2 11.99 100959 chr3 160135742 160135742 G A rs200043543 SMC4 Nonsynonymous SNV E557K 0 0 0.007 0 0 0 0 2 0 0 0 0 16.59 100960 chr3 161147193 161147193 C T rs753739971 LINC02067 0 0 0.075 0 0 0 0 22 0 0 0 0 16.41 100961 chr3 161147243 161147243 C T rs367549517 LINC02067 0 0 0.007 0 0 0 0 2 0 0 0 0 13.55 100962 chr20 34541968 34541968 G A rs760892216 SCAND1 Nonsynonymous SNV P143L 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 13.05 100963 chr22 23488847 23488847 A G rs763546298 RAB36 Nonsynonymous SNV D81G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 100964 chr20 39980857 39980857 C T rs140946879 LPIN3 Synonymous SNV L455L 0.014 0.013 0.003 2 16 5 0.005 1 0 0 0 0 13.37 100965 chr20 36869741 36869741 G A rs750415572 KIAA1755 Synonymous SNV D264D 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.612 100966 chr3 169896715 169896715 T C rs201513841 PHC3 Nonsynonymous SNV H9R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 1.567 100967 chr20 20177280 20177280 G A rs116476718 CFAP61 Nonsynonymous SNV E553K 0.006 0.008 0 0 7 3 0 0 0 0 0 0 23.4 100968 chr20 43090512 43090512 G A rs776016562 LINC01620 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.848 100969 chr3 170824453 170824453 A C rs73037390 MIR569 0 0 0.02 0 0 0 0 6 0 0 0 0 13.14 100970 chr3 171330099 171330099 A T rs536513156 PLD1 Nonsynonymous SNV F913Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.89 100971 chr3 171330203 171330203 G T rs760481255 PLD1 Nonsynonymous SNV D878E 0 0 0.007 0 0 0 0 2 0 0 0 0 28 100972 chr20 3838357 3838357 C T rs78448735 MAVS Nonsynonymous SNV R65W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 30 100973 chr1 237886514 237886514 G A rs144256966 RYR2 Synonymous SNV T3547T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.39 100974 chr22 27585061 27585061 G A LOC105372977 Nonsynonymous SNV R90K 0.005 0.016 0 2 6 6 0.005 0 0 0 0 0 3.998 100975 chr20 44640810 44640810 G T rs138668828 MMP9 Synonymous SNV G344G 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.456 100976 chr3 179082937 179082937 G A rs143476739 MFN1 Nonsynonymous SNV R226Q 0.003 0 0.024 5 4 0 0.013 7 0 0 0 1 not provided 24 100977 chr20 17639366 17639366 T C rs73092300 RRBP1 Nonsynonymous SNV Q596R 0.02 0.018 0 6 24 7 0.015 0 0 0 0 0 10.4 100978 chr20 2465304 2465304 T A rs73085335 ZNF343 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.12 100979 chr20 45170282 45170282 G A rs140873533 OCSTAMP Synonymous SNV H444H 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 12.22 100980 chr20 45174066 45174066 G A rs572263812 OCSTAMP Nonsynonymous SNV A316V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 0.177 100981 chr1 19494559 19494559 G C rs138382303 UBR4 Synonymous SNV T1287T 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 8.578 100982 chr1 19634726 19634726 A G AKR7A2 Nonsynonymous SNV Y173H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 100983 chr20 25271184 25271184 A G rs143219973 PYGB Nonsynonymous SNV N632S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 100984 chr11 61110060 61110060 T C rs746122685 TKFC Synonymous SNV D235D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.093 100985 chr20 43851927 43851927 G C rs139977707 SEMG2 Nonsynonymous SNV E552Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.22 100986 chr20 47855496 47855496 C T rs78749149 DDX27 Synonymous SNV L597L 0.003 0.016 0.007 4 3 6 0.01 2 0 0 0 0 11.97 100987 chr20 19915770 19915770 G A rs78648341 RIN2 Nonsynonymous SNV G29R 0.019 0.008 0.01 12 22 3 0.031 3 1 0 0 0 Benign 33 100988 chr20 47864833 47864833 G A rs76508258 ZNFX1 Synonymous SNV G1576G 0.003 0.016 0.01 4 3 6 0.01 3 0 0 0 0 4.219 100989 chr11 61252163 61252163 C T rs373143089 PPP1R32 Nonsynonymous SNV R129W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 100990 chr11 61253997 61253997 G T rs377288677 PPP1R32 Nonsynonymous SNV G230V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 100991 chr20 25657705 25657705 A G rs145097207 ZNF337-AS1 0.004 0 0.003 0 5 0 0 1 0 0 0 0 3.703 100992 chr20 47886876 47886876 T C rs3746554 ZNFX1 Synonymous SNV Q491Q 0.003 0.016 0.01 4 3 6 0.01 3 0 0 0 0 0.002 100993 chr3 184157142 184157142 C G rs4371544 LINC02054 0.025 0.036 0.02 14 29 14 0.036 6 0 0 0 0 9.67 100994 chr20 30354485 30354485 - GTAA rs779758544 TPX2 Stop gain R120* 0.001 0 0 0 1 0 0 0 0 0 0 0 100995 chr1 19972513 19972513 G T rs558529900 NBL1 Synonymous SNV G23G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 100996 chr1 200377094 200377094 T C rs61734668 ZNF281 Synonymous SNV P580P 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 Benign 0.037 100997 chr22 32110458 32110458 C T rs754359347 PRR14L Nonsynonymous SNV V1123M 0.004 0 0 0 5 0 0 0 0 0 0 0 23.4 100998 chr1 200950187 200950187 G A KIF21B Nonsynonymous SNV R1281W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 100999 chr1 246498697 246498697 C T rs143920876 SMYD3 Nonsynonymous SNV R103Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 101000 chr20 44841712 44841712 G A rs767582902 CDH22 Synonymous SNV D318D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.384 101001 chr1 201019588 201019588 G C rs371849585 CACNA1S Nonsynonymous SNV D1390E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.1 101002 chr20 45850015 45850015 C T rs143716806 ZMYND8 Nonsynonymous SNV A971T 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 12.87 101003 chr20 2375987 2375987 G A TGM6 Nonsynonymous SNV G110D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.5 101004 chr11 62850775 62850775 G A rs77002186 SLC22A24 Stop gain Q409X 0.03 0.018 0.017 11 35 7 0.028 5 2 0 0 0 35 101005 chr11 59189582 59189582 A G OR5A2 Nonsynonymous SNV V282A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 101006 chr11 59829991 59829991 G T rs148106111 MS4A3 Synonymous SNV L69L 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 0.333 101007 chr11 59829992 59829992 G A rs140838251 MS4A3 Nonsynonymous SNV G70S 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 5.989 101008 chr20 31652315 31652315 G C rs117989719 BPIFB3 Nonsynonymous SNV L235F 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 25.5 101009 chr11 63449138 63449138 C T rs11551949 RTN3 Synonymous SNV S10S 0.015 0.008 0.014 12 18 3 0.031 4 0 0 1 0 Benign 19.6 101010 chr3 187898092 187898092 T G rs16863078 FLJ42393 0 0 0.119 0 0 0 0 35 0 0 1 0 5.989 101011 chr3 188478030 188478030 A G rs759694450 LPP Nonsynonymous SNV Y310C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 28.7 101012 chr20 29891209 29891209 G A rs770289014 DEFB116 Nonsynonymous SNV P39S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 19.91 101013 chr20 30418688 30418688 C T MYLK2 Nonsynonymous SNV R431W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 101014 chr1 247978489 247978489 C A OR14A16 Nonsynonymous SNV Q181H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.84 101015 chr1 202287378 202287378 A G rs150105217 LGR6 Synonymous SNV A510A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 101016 chr20 31654638 31654638 C T rs150087753 BPIFB3 Synonymous SNV S311S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 14.88 101017 chr1 202735590 202735590 C T rs895890150 KDM5B Nonsynonymous SNV A252T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.395 101018 chr22 38343312 38343312 C T rs761276963 C22orf23 Nonsynonymous SNV E88K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 101019 chr11 64504329 64504329 C T rs141060165 RASGRP2 Nonsynonymous SNV G331R 0.003 0 0 3 4 0 0.008 0 0 0 0 0 32 101020 chr1 203668728 203668728 C T rs759843418 ATP2B4 Nonsynonymous SNV R178W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 101021 chr20 32878559 32878559 G A rs150175934 AHCY Synonymous SNV N248N 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.766 101022 chr20 33330896 33330896 T C rs746624102 NCOA6 Nonsynonymous SNV H1055R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 18.84 101023 chr20 36845863 36845863 C A rs145212886 KIAA1755 Nonsynonymous SNV R549L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23 101024 chr20 60982118 60982118 G C rs184691263 CABLES2 Nonsynonymous SNV P72R 0.043 0.036 0.034 27 50 14 0.069 10 9 4 2 7 9.227 101025 chr20 3729011 3729011 C T rs139111180 HSPA12B Nonsynonymous SNV R189C 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 24.2 101026 chr20 60990260 60990260 G T rs36042460 RBBP8NL Synonymous SNV G237G 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 0.785 101027 chr1 205495924 205495924 C T rs530113323 CDK18 Synonymous SNV L230L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.78 101028 chr20 39652568 39652568 C T rs541223491 LOC100128988 0.001 0 0 0 1 0 0 0 0 0 0 0 3.583 101029 chr20 36640419 36640419 G A rs151266756 TTI1 Synonymous SNV H600H 0.009 0 0.007 2 11 0 0.005 2 0 0 0 0 0.006 101030 chr1 20669741 20669741 G A rs771265220 VWA5B1 Synonymous SNV V827V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.251 101031 chr1 248366370 248366370 A G rs148365126 OR2M3 Star tloss M1? 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 5.812 101032 chr20 61939929 61939929 C G rs140030199 COL20A1 Nonsynonymous SNV Q271E 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.01 101033 chr20 36859706 36859706 C T rs753912139 KIAA1755 Nonsynonymous SNV R590Q 0.003 0 0 0 4 0 0 0 0 0 0 0 34 101034 chr20 43936892 43936892 G A rs758594583 RBPJL 0.001 0 0 0 1 0 0 0 0 0 0 0 24 101035 chr11 66083043 66083043 C T rs74818906 CD248 Nonsynonymous SNV A486T 0.009 0.016 0.017 6 10 6 0.015 5 0 0 0 0 Benign 21.8 101036 chr20 37255820 37255821 AG - rs754548200 ARHGAP40 D174Cfs*33 0.003 0 0 0 4 0 0 0 0 0 0 0 101037 chr20 44477254 44477254 G A rs376706756 ACOT8 Nonsynonymous SNV S108L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 101038 chr20 39802889 39802889 G A rs374152526 PLCG1 Synonymous SNV P1257P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 11.07 101039 chr20 409676 409676 C T rs145423115 RBCK1 Nonsynonymous SNV R294C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 25 101040 chr20 41101056 41101056 G C PTPRT Nonsynonymous SNV Q434E 0.01 0 0 1 12 0 0.003 0 0 0 0 0 3.645 101041 chr11 67267593 67267593 G A rs148264942 PITPNM1 Nonsynonymous SNV R314C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 26.4 101042 chr3 36873206 36873206 T C rs371240661 TRANK1 Nonsynonymous SNV N2579S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.117 101043 chr20 42679955 42679955 A G rs41279272 TOX2 Nonsynonymous SNV M99V 0.02 0.021 0.031 6 23 8 0.015 9 0 0 0 0 Likely benign 15.61 101044 chr20 47843033 47843033 T C rs138080825 DDX27 Synonymous SNV L254L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.097 101045 chr3 38519425 38519425 C T ACVR2B Nonsynonymous SNV R112C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 101046 chr20 9495475 9495475 C T rs2232258 LAMP5-AS1 0.016 0.013 0.007 6 19 5 0.015 2 2 0 0 0 16.48 101047 chr20 44587962 44587962 G A rs377754090 ZNF335 Nonsynonymous SNV R711C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 101048 chr22 47193450 47193450 G A rs750161561 TBC1D22A Synonymous SNV L143L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 101049 chr21 15954595 15954595 C A rs151160030 SAMSN1 Nonsynonymous SNV K41N 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 Likely benign 16.87 101050 chr20 47271868 47271868 A G rs144910943 PREX1 Synonymous SNV I723I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.338 101051 chr1 32149721 32149721 G C rs34976864 COL16A1 Nonsynonymous SNV P758A 0.028 0.029 0.027 9 33 11 0.023 8 0 0 0 0 12.34 101052 chr22 50659595 50659595 C T rs143759693 TUBGCP6 Nonsynonymous SNV E1065K 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 25.1 101053 chr1 32667685 32667685 G A rs749202066 CCDC28B Nonsynonymous SNV R50Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 101054 chr22 50684256 50684256 T C rs75596977 HDAC10 Nonsynonymous SNV N592D 0.018 0.005 0.02 9 21 2 0.023 6 0 0 0 0 6.017 101055 chr22 50684415 50684415 T C rs11553697 HDAC10 Nonsynonymous SNV Q566R 0.018 0.005 0.017 9 21 2 0.023 5 0 0 0 0 13.82 101056 chr21 30699637 30699637 A T rs151321858 BACH1 Nonsynonymous SNV I498F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.4 101057 chr22 50684747 50684747 C T rs76578729 HDAC10 Nonsynonymous SNV V524I 0.018 0.005 0.017 9 21 2 0.023 5 0 0 0 0 7.61 101058 chr22 50703829 50703829 G A rs572173960 MAPK11 Synonymous SNV H312H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.705 101059 chr21 31768461 31768470 GCACTACCCA - rs536788134 KRTAP13-1 H20Pfs*78 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 101060 chr11 73915481 73915481 T C rs34841082 PPME1 Synonymous SNV A93A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.63 101061 chr21 27124452 27124452 A G rs556712151 GABPA Nonsynonymous SNV T154A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.21 101062 chr1 22030875 22030875 T A rs148667263 USP48 Nonsynonymous SNV I732L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 101063 chr20 54824583 54824583 C T MC3R Synonymous SNV D228D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.364 101064 chr20 58519514 58519514 C G rs144242261 FAM217B Synonymous SNV P15P 0.008 0.01 0.017 2 9 4 0.005 5 0 0 0 0 3.002 101065 chr20 55840900 55840900 C T rs61733434 BMP7 Synonymous SNV E93E 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 12.72 101066 chr20 55982695 55982695 G A rs115516069 RBM38 Synonymous SNV E171E 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 Benign 8.8 101067 chr3 44943088 44943088 T C rs9818345 TGM4 Nonsynonymous SNV Y244H 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 0.023 101068 chr3 44948547 44948547 C T rs34547377 TGM4 Synonymous SNV L394L 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Benign 12 101069 chr3 45046797 45046797 G A rs34512144 EXOSC7 Nonsynonymous SNV R169Q 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 21.2 101070 chr1 35480589 35480589 A G rs767734774 ZMYM6 Synonymous SNV D201D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 101071 chr1 3698127 3698127 T C LRRC47 Synonymous SNV T484T 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.022 101072 chr21 40636889 40636889 C T rs61739948 BRWD1 Synonymous SNV Q529Q 0.006 0.018 0.003 2 7 7 0.005 1 1 0 0 0 9.203 101073 chr1 223567391 223567391 C T rs748509441 CCDC185 Nonsynonymous SNV R192W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 101074 chr21 34932196 34932196 G A rs766314966 SON Nonsynonymous SNV R2224Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.69 101075 chr21 42748934 42748934 C T rs201924000 MX2 Nonsynonymous SNV P34L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 4.266 101076 chr1 40363170 40363170 T C rs1800834 MYCL Synonymous SNV L323L 0.009 0.013 0.003 8 10 5 0.021 1 0 0 0 0 0.713 101077 chr20 60738620 60738620 C T rs6089674 SS18L1 Synonymous SNV S221S 0.02 0.016 0.014 11 24 6 0.028 4 0 0 0 0 13.96 101078 chr11 73021097 73021097 C T ARHGEF17 Synonymous SNV L472L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.713 101079 chr11 75150935 75150935 G A rs368415075 GDPD5 Synonymous SNV F377F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 101080 chr20 61598071 61598071 C T rs201954865 SLC17A9 Synonymous SNV A378A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 101081 chr11 75298917 75298917 C A rs35165133 MAP6 Nonsynonymous SNV M543I 0.013 0.013 0.01 4 15 5 0.01 3 0 0 0 0 0.812 101082 chr20 60989187 60989187 G T rs45514096 RBBP8NL Nonsynonymous SNV A407D 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 10.71 101083 chr2 110886778 110886778 C G rs200521790 NPHP1 Synonymous SNV V504V 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Likely benign 9.771 101084 chr20 61948026 61948026 G T COL20A1 Nonsynonymous SNV Q882H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 101085 chr20 61948027 61948027 C T rs769667239 COL20A1 Synonymous SNV L883L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 101086 chr20 61300291 61300291 C T rs764439123 SLCO4A1 Nonsynonymous SNV P629L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 101087 chr2 113079394 113079394 A G ZC3H6 Synonymous SNV K346K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.661 101088 chr21 42719013 42719013 C T rs144944684 FAM3B Synonymous SNV D109D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.82 101089 chr11 76883813 76883813 G A rs782311929 MYO7A Nonsynonymous SNV R606H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 101090 chr1 228403351 228403351 C G OBSCN Nonsynonymous SNV A639G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 101091 chr20 61941853 61941853 G A COL20A1 Nonsynonymous SNV V462M 0.003 0 0 0 3 0 0 0 0 0 0 0 18.91 101092 chr20 61943284 61943284 G A rs762885542 COL20A1 Synonymous SNV P560P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.395 101093 chr3 49924809 49924809 C G rs374431656 MST1R Synonymous SNV P1272P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.459 101094 chr20 62198583 62198583 G A rs35691275 HELZ2 Nonsynonymous SNV R141W 0.005 0 0.014 1 6 0 0.003 4 0 0 0 0 23.5 101095 chr1 45272201 45272201 G A rs138630887 TCTEX1D4 Nonsynonymous SNV P47L 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 1 22.6 101096 chr3 50379257 50379257 G A rs142613783 ZMYND10 Nonsynonymous SNV R364W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.2 101097 chr20 62203663 62203663 C T rs79255367 HELZ2 Nonsynonymous SNV D26N 0.01 0.018 0.003 6 12 7 0.015 1 0 0 0 0 0.203 101098 chr11 78413335 78413335 G A rs368465950 TENM4 Synonymous SNV V1441V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.548 101099 chr2 11755256 11755256 C G rs188866955 GREB1 Synonymous SNV S1054S 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 6.756 101100 chr11 82444427 82444427 C T FAM181B Synonymous SNV P115P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 101101 chr3 52018149 52018149 C G rs34017492 ABHD14A-ACY1, ACY1 Synonymous SNV R23R 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 Benign 13.01 101102 chr20 62328158 62328158 G A TNFRSF6B Nonsynonymous SNV C13Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 101103 chr11 82938906 82938906 T C ANKRD42 Nonsynonymous SNV M302T 0.003 0.01 0 1 4 4 0.003 0 1 0 0 0 25.5 101104 chr1 46812747 46812747 C T rs147331351 NSUN4 Nonsynonymous SNV R149C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24.4 101105 chr21 46624623 46624623 C G rs141463450 ADARB1 Synonymous SNV L573L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.19 101106 chr3 52514271 52514271 C T rs71297399 NISCH Synonymous SNV P496P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 14.49 101107 chr21 44283667 44283667 G A WDR4 Synonymous SNV A112A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.969 101108 chr1 228543886 228543886 C T rs146933748 OBSCN Synonymous SNV T6232T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.8 101109 chr1 2290143 2290143 G A rs34587196 MORN1 Nonsynonymous SNV R253W 0.016 0.018 0.007 5 19 7 0.013 2 0 0 0 0 31 101110 chr21 47423409 47423409 G A rs570688674 COL6A1 Nonsynonymous SNV E857K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 23.5 101111 chr11 106558336 106558336 G A rs745489122 GUCY1A2 Nonsynonymous SNV S713L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23 101112 chr3 53259862 53259862 T C rs146102577 TKT Synonymous SNV R594R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.413 101113 chr3 53774360 53774360 G C rs150266932 CACNA1D Synonymous SNV L935L 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.9 101114 chr3 53857965 53857965 G A rs201987319 CHDH Nonsynonymous SNV S24F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.319 101115 chr21 47661036 47661036 C T MCM3AP-AS1 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.49 101116 chr2 128703084 128703084 G C rs141906487 SAP130 Synonymous SNV S913S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.285 101117 chr11 93492972 93492972 A G rs139891911 C11orf54 Nonsynonymous SNV Y172C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 101118 chr11 93521258 93521258 T C rs16919376 MED17 Synonymous SNV D114D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 5.292 101119 chr11 93530817 93530817 A G rs36120755 MED17 Synonymous SNV S420S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 9.417 101120 chr11 93540765 93540765 T C rs16919389 MED17 Synonymous SNV Y516Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 2.226 101121 chr21 47860075 47860075 C T rs772353569 PCNT Nonsynonymous SNV P2921L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.4 101122 chr11 93803672 93803672 A G rs61733350 HEPHL1 Nonsynonymous SNV N399S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 101123 chr1 52486677 52486677 C T rs141171987 TXNDC12 Synonymous SNV Q149Q 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 12.81 101124 chr11 93844722 93844722 C T rs76467816 HEPHL1 Synonymous SNV S1076S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.652 101125 chr3 58191274 58191274 C G rs74350392 DNASE1L3 Nonsynonymous SNV G82R 0.008 0.005 0.017 5 9 2 0.013 5 0 0 0 0 Benign 10.2 101126 chr21 28338127 28338127 C T ADAMTS5 Nonsynonymous SNV R195H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 101127 chr1 234509136 234509136 C G rs141632934 COA6-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 7.592 101128 chr11 114310382 114310382 C T rs140492814 REXO2 Synonymous SNV V44V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.4 101129 chr11 114400991 114400991 G C rs45609739 NXPE1 Nonsynonymous SNV P105A 0.023 0.016 0.024 8 27 6 0.021 7 1 1 0 1 24 101130 chr21 47556864 47556864 G A rs374729971 FTCD Nonsynonymous SNV P548L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.256 101131 chr3 8579093 8579093 C T rs139605755 LMCD1 Synonymous SNV Y45Y 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 12 101132 chr3 89462377 89462377 G A rs374235660 EPHA3 Nonsynonymous SNV D617N 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 101133 chr1 236758907 236758907 G A rs369809696 HEATR1 Synonymous SNV Y341Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.609 101134 chr22 20920814 20920816 CAG - rs760241815 MED15 Q191del 0.011 0.016 0.01 4 13 6 0.01 3 0 0 0 0 101135 chr3 9489404 9489404 C T SETD5 Nonsynonymous SNV P606L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 101136 chr1 237015868 237015868 C T rs758784869 MTR Synonymous SNV S174S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.96 101137 chr22 21989125 21989125 C T rs374196676 CCDC116 Nonsynonymous SNV P258L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.015 101138 chr21 47850036 47850036 G A rs144869229 PCNT Synonymous SNV A2483A 0.008 0.008 0.007 0 9 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.57 101139 chr22 22673596 22673596 C A rs371804160 BMS1P20 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.963 101140 chr11 108361764 108361764 A G POGLUT3 Synonymous SNV D111D 0.001 0 0 4 1 0 0.01 0 0 0 0 0 4.321 101141 chr11 121475859 121475859 G C rs138580875 SORL1 Nonsynonymous SNV W1563C 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 32 101142 chr1 245848878 245848878 G A rs201455964 KIF26B Nonsynonymous SNV V865I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 101143 chr1 245861565 245861565 C T rs7530669 KIF26B Synonymous SNV I1994I 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 17.72 101144 chr22 21385954 21385954 T C rs143734260 SLC7A4 Nonsynonymous SNV M50V 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 18.73 101145 chr1 65145369 65145369 G A rs151233133 CACHD1 Synonymous SNV L816L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.55 101146 chr11 115080346 115080346 T G rs148111993 CADM1 Synonymous SNV T342T 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 1.638 101147 chr11 117094822 117094822 G A rs374854628 PCSK7 Synonymous SNV Y342Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.173 101148 chr11 16848067 16848067 G A rs79143472 PLEKHA7 Nonsynonymous SNV R315W 0.015 0.016 0.007 4 18 6 0.01 2 0 0 0 0 23.7 101149 chr4 106640612 106640612 G A rs750839255 GSTCD Synonymous SNV E274E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 101150 chr4 110415869 110415869 G A rs201228806 SEC24B Nonsynonymous SNV V414I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.008 101151 chr4 110415926 110415926 C T rs201875739 SEC24B Nonsynonymous SNV P433S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 101152 chr4 110481517 110481517 G T rs573198533 MCUB Synonymous SNV P8P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.54 101153 chr11 118425790 118425790 G A rs143391860 IFT46 Nonsynonymous SNV P90L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 31 101154 chr2 170096095 170096095 C G rs34915742 LRP2 Synonymous SNV R1412R 0.006 0.026 0.034 6 7 10 0.015 10 0 0 1 0 Benign 11.14 101155 chr11 118499073 118499073 C T rs375467835 PHLDB1 Nonsynonymous SNV R512W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 101156 chr2 170100011 170100011 G A rs150552608 LRP2 Nonsynonymous SNV P1151L 0.006 0.026 0.027 6 7 10 0.015 8 0 0 0 0 Benign 10.62 101157 chr4 110895923 110895923 A G rs41482245 EGF Nonsynonymous SNV I555V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.002 101158 chr4 110901147 110901147 A G rs2302135 EGF Synonymous SNV A649A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 0.32 101159 chr4 110908933 110908933 T C rs11569046 EGF Nonsynonymous SNV M800T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.001 101160 chr1 248039226 248039226 C T rs565939415 TRIM58 Nonsynonymous SNV T299M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 101161 chr21 45846962 45846962 C T rs111781929 TRPM2 Synonymous SNV H1314H 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 10.53 101162 chr4 114203895 114203895 T C ANK2 Nonsynonymous SNV L579P 0 0 0.007 0 0 0 0 2 0 0 0 0 29.1 101163 chr22 31008882 31008882 G A rs11557600 TCN2 Nonsynonymous SNV G94S 0.013 0.016 0.003 1 15 6 0.003 1 0 0 0 0 Benign/Likely benign 0.023 101164 chr1 248185773 248185773 - T rs749963203 OR2L5 Frameshift insertion C178Lfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 101165 chr21 46888662 46888662 G A rs201116208 COL18A1 Nonsynonymous SNV V385M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.9 101166 chr21 46930021 46930021 G A rs200484625 COL18A1 Nonsynonymous SNV R1357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 101167 chr22 31845490 31845490 G A rs142530811 EIF4ENIF1 Nonsynonymous SNV P363S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.4 101168 chr11 129739406 129739406 C T NFRKB Nonsynonymous SNV V1197M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 26.2 101169 chr2 179435734 179435734 A G rs775091036 TTN Nonsynonymous SNV I15977T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Uncertain significance 12.57 101170 chr4 123949435 123949435 G A rs147873489 SPATA5 Nonsynonymous SNV R654Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 101171 chr2 179506965 179506965 G A rs371178429 TTN Synonymous SNV S4454S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.91 101172 chr4 126355484 126355484 C A rs116568645 FAT4 Nonsynonymous SNV A2368E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.49 101173 chr4 128627733 128627733 A G rs140878220 INTU Nonsynonymous SNV Q627R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 101174 chr12 863415 863415 C T rs72647374 WNK1 Synonymous SNV G228G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign/Likely benign 12.8 101175 chr22 31532702 31532702 A G rs142563030 PLA2G3 Nonsynonymous SNV L428P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.8 101176 chr22 36716904 36716904 C G MYH9 Nonsynonymous SNV K269N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 101177 chr22 31662088 31662088 G C rs761372848 LIMK2 Synonymous SNV L316L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.825 101178 chr22 31672776 31672776 - C rs540206607 LIMK2 Frameshift insertion G574Rfs*12 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 101179 chr2 179732785 179732785 C T rs200780194 CCDC141 Nonsynonymous SNV G848R 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 27.9 101180 chr4 139104394 139104394 G - SLC7A11 F328Lfs*4 0 0 0.007 0 0 0 0 2 0 0 0 0 101181 chr12 3047365 3047365 G C rs34246393 TULP3 Nonsynonymous SNV S370T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 101182 chr22 32841946 32841946 C A BPIFC Nonsynonymous SNV V138F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.7 101183 chr22 38061566 38061566 C T rs200494221 PDXP Synonymous SNV T193T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.9 101184 chr1 9063397 9063397 G C rs778467144 SLC2A7 Nonsynonymous SNV P501A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.929 101185 chr11 43457720 43457720 G A rs926079214 TTC17 Nonsynonymous SNV C753Y 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 101186 chr22 36886196 36886196 G A rs140004875 FOXRED2 Synonymous SNV S548S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.56 101187 chr22 36900336 36900336 C A rs147216610 FOXRED2 Synonymous SNV L286L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 14.02 101188 chr4 147754995 147754995 C T rs143005058 TTC29 Nonsynonymous SNV G314R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 101189 chr1 91784916 91784916 T C rs148748547 HFM1 Nonsynonymous SNV I872V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.28 101190 chr22 36900812 36900812 C T rs9610522 FOXRED2 Nonsynonymous SNV V177I 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 20.4 101191 chr22 21998280 21998280 G A rs73166641 SDF2L1 Nonsynonymous SNV R161H 0.014 0.008 0.014 3 16 3 0.008 4 0 0 0 0 34 101192 chr11 44099402 44099402 G A rs35514614 ACCS Nonsynonymous SNV G221E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.63 101193 chr11 125792731 125792731 A G DDX25 Synonymous SNV Q355Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.964 101194 chr11 44102794 44102794 C T rs3213455 ACCS Synonymous SNV A345A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.51 101195 chr1 92446371 92446374 AAGT - BRDT N441Sfs*15 0.003 0 0 1 3 0 0.003 0 0 0 0 0 101196 chr22 20940928 20940928 G A rs770935643 MED15 Synonymous SNV S657S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 101197 chr11 45117405 45117405 C T rs151070137 PRDM11 Nonsynonymous SNV R17W 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17 101198 chr1 27661952 27661952 C T rs150461998 TMEM222 Nonsynonymous SNV R208W 0.015 0.018 0.014 7 18 7 0.018 4 0 0 0 0 35 101199 chr12 7015707 7015707 G T rs2071073 LRRC23 Nonsynonymous SNV R124L 0.009 0.016 0.003 3 10 6 0.008 1 0 0 0 0 17.19 101200 chr22 21965274 21965274 G A rs774552739 UBE2L3 Synonymous SNV Q52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.855 101201 chr11 46791527 46791527 A C CKAP5 Nonsynonymous SNV F1103C 0.011 0.003 0 2 13 1 0.005 0 1 0 0 0 21 101202 chr12 7045895 7045912 CAGCAGCAGCAGCAGCAG - ATN1 Q497_Q502del 0 0 0 2 0 0 0.005 0 0 0 0 0 101203 chr12 7046398 7046398 A C rs112842935 ATN1 Synonymous SNV G656G 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 0.002 101204 chr22 21989008 21989008 C G rs76336942 CCDC116 Nonsynonymous SNV S219C 0.011 0.005 0.01 0 13 2 0 3 0 0 0 0 15.98 101205 chr12 7177172 7177172 C G rs144851896 C1S Synonymous SNV P261P 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 Likely benign 8.936 101206 chr12 7805130 7805130 C T rs749139535 APOBEC1 Nonsynonymous SNV V71I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.476 101207 chr4 15826559 15826559 G A rs774876946 CD38 Nonsynonymous SNV R140Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.579 101208 chr2 191904021 191904021 G T rs144421302 STAT4 Synonymous SNV T446T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 12.57 101209 chr12 9258863 9258863 T C rs112506934 A2M Nonsynonymous SNV H208R 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 9.703 101210 chr1 3327973 3327973 G A rs139129844 PRDM16 Synonymous SNV T404T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 10.72 101211 chr22 41574892 41574892 C G rs377508897 EP300 Nonsynonymous SNV L2367V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.1 101212 chr22 27446010 27446010 - AGTGT LOC284898 Frameshift insertion W106Yfs*71 0.002 0.005 0 0 2 2 0 0 0 0 0 0 101213 chr22 46671265 46671265 A G rs754288342 TTC38 Synonymous SNV R162R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.54 101214 chr1 36367581 36367581 C T rs72661614 AGO1 Synonymous SNV Y316Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 1.304 101215 chr22 28389314 28389314 G A rs191320855 TTC28 Nonsynonymous SNV R1813W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 101216 chr22 50217468 50217468 C T rs149060366 BRD1 Synonymous SNV L166L 0.007 0.008 0 0 8 3 0 0 0 0 0 0 6.455 101217 chr1 3677854 3677854 C T rs41303855 CCDC27 Synonymous SNV L241L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.788 101218 chr20 17596163 17596163 C G RRBP1 Synonymous SNV S1321S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.31 101219 chr12 5708682 5708682 T C rs201565280 ANO2 Nonsynonymous SNV Y734C 0.004 0.01 0 0 5 4 0 0 0 0 0 0 24.6 101220 chr4 174450288 174450288 G C rs59621536 HAND2 Synonymous SNV P51P 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 8.319 101221 chr22 30980573 30980573 T G PES1 Nonsynonymous SNV E167A 0.006 0.003 0 5 7 1 0.013 0 0 0 0 1 24.1 101222 chr4 175898913 175898913 C T rs142711835 ADAM29 Nonsynonymous SNV T746M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.9 101223 chr2 203817297 203817297 C T rs115268453 CARF Nonsynonymous SNV P20S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Likely benign 15.58 101224 chr12 6730085 6730085 G A LPAR5 Synonymous SNV I110I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 101225 chr4 184932316 184932316 C T rs147556350 STOX2 Synonymous SNV N775N 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 11.05 101226 chr22 45943068 45943068 T C FBLN1 Synonymous SNV D475D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.47 101227 chr22 46631108 46631108 A T rs9615759 PPARA Nonsynonymous SNV Q413L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.72 101228 chr12 7343154 7343198 GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA - PEX5 E63_S66del 0.001 0 0 0 1 0 0 0 0 0 0 0 101229 chr12 15774349 15774349 A C EPS8 Nonsynonymous SNV S791A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.4 101230 chr2 209027941 209027941 C T rs139353014 CRYGA Nonsynonymous SNV R80H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Pathogenic 22.1 101231 chr22 50356658 50356658 G A rs200601202 PIM3 Synonymous SNV A288A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 6.19 101232 chr12 20876168 20876168 C T rs144285413 SLCO1C1 Nonsynonymous SNV S271F 0.006 0.003 0.003 2 7 1 0.005 1 1 0 0 0 Benign 32 101233 chr20 25655955 25655955 C T rs146126391 ZNF337 Nonsynonymous SNV V657M 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 24.9 101234 chr4 187532666 187532666 T C rs766106469 FAT1 Nonsynonymous SNV I3243V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 101235 chr22 50664351 50664351 C T rs147119684 TUBGCP6 Nonsynonymous SNV V619I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Likely benign 0.016 101236 chr20 2777921 2777921 C T rs41301840 CPXM1 Nonsynonymous SNV R250H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 101237 chr4 1985792 1985792 G A rs781086291 NELFA Nonsynonymous SNV P362L 0 0 0.007 0 0 0 0 2 0 0 0 0 16.49 101238 chr22 38524390 38524390 C T rs575880571 PLA2G6 Nonsynonymous SNV E186K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 101239 chr22 50728278 50728278 G A rs200615380 PLXNB2 Synonymous SNV L246L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 7.617 101240 chr22 39482412 39482412 C A rs753026054 APOBEC3G Stop gain C221X 0.001 0 0 0 1 0 0 0 0 0 0 0 31 101241 chr4 22404378 22404378 C T ADGRA3 Synonymous SNV L759L 0 0 0.007 0 0 0 0 2 0 0 0 0 14.87 101242 chr2 103322324 103322324 G A rs572895281 SLC9A2 Nonsynonymous SNV R666Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 35 101243 chr2 218758263 218758263 C T rs372578005 TNS1 Nonsynonymous SNV D81N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 101244 chr2 218935478 218935478 G A rs113075492 RUFY4 Nonsynonymous SNV A17T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 101245 chr22 51015875 51015875 - CCC rs776959700 CPT1B G53_V54insG 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 101246 chr1 45295289 45295289 C A rs11573579 PTCH2 Synonymous SNV V360V 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 Benign 15.04 101247 chr1 45962273 45962273 C T rs373695278 CCDC163 Synonymous SNV L95L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.594 101248 chr22 41645396 41645396 G A rs144117104 RANGAP1 Synonymous SNV H544H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 11.18 101249 chr2 219602838 219602838 T G TTLL4 Nonsynonymous SNV S147A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.31 101250 chr2 219894920 219894920 G A CFAP65 Nonsynonymous SNV P326L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.3 101251 chr20 34215248 34215248 T C rs762381858 CPNE1 Nonsynonymous SNV H397R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 101252 chr12 11214066 11214066 T C rs754699113 TAS2R46 Synonymous SNV P276P 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 0.224 101253 chr2 11053934 11053934 C G rs149685660 KCNF1 Nonsynonymous SNV A461G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.004 101254 chr12 11214074 11214074 T C rs200528237 TAS2R46 Nonsynonymous SNV T274A 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 0.001 101255 chr2 111875379 111875379 G T rs189429375 ACOXL Stop gain G577X 0.005 0.008 0 0 6 3 0 0 0 0 0 0 37 101256 chr2 111881361 111881361 C T rs112446582 BCL2L11 Synonymous SNV D13D 0.003 0.01 0.003 2 4 4 0.005 1 0 1 0 0 Benign 8.972 101257 chr22 43204882 43204882 C T rs140377812 ARFGAP3 Nonsynonymous SNV R360H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 101258 chr12 41582336 41582336 G C rs752180193 PDZRN4 Nonsynonymous SNV E27Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 101259 chr4 3591358 3591358 A C rs6446744 LINC00955 0 0 0.041 0 0 0 0 12 0 0 5 0 0.788 101260 chr22 43606212 43606212 G A rs151158613 SCUBE1 Synonymous SNV T806T 0.004 0 0 5 5 0 0.013 0 0 0 0 0 Benign 8.388 101261 chr11 56380959 56380959 G A rs202193331 OR5M1 Nonsynonymous SNV T7I 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 24.1 101262 chr4 37962104 37962104 C T rs200914401 PTTG2 Nonsynonymous SNV R17C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 21.1 101263 chr2 11593839 11593839 G A rs61758458 E2F6 Synonymous SNV P8P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.22 101264 chr4 38776478 38776478 G T rs187892716 TLR10 Stop gain S245X 0 0 0.01 1 0 0 0.003 3 0 0 0 0 35 101265 chr2 11696888 11696888 G A rs754448466 GREB1 Nonsynonymous SNV A50T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.13 101266 chr12 14976205 14976205 A G rs138256420 C12orf60 Synonymous SNV K112K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.112 101267 chr4 39064240 39064240 C A rs140053546 KLHL5 Nonsynonymous SNV R36S 0.009 0.016 0.034 0 10 6 0 10 0 0 1 0 18.14 101268 chr2 11800211 11800211 C T rs368993002 NTSR2 Nonsynonymous SNV R316H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 101269 chr1 54666100 54666100 G A rs11544810 MRPL37 Nonsynonymous SNV G62R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 101270 chr4 39482584 39482584 T C rs17438520 LOC401127 0 0 0.027 0 0 0 0 8 0 0 0 0 1.54 101271 chr4 419639 419639 T C rs7681990 ABCA11P 0 0 0.017 0 0 0 0 5 0 0 0 0 2.106 101272 chr1 55518370 55518370 C T rs7552471 PCSK9 Synonymous SNV S235S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 101273 chr2 121726366 121726366 C T rs142793481 GLI2 Synonymous SNV D115D 0.01 0.008 0.003 1 12 3 0.003 1 0 0 0 0 Benign 16.28 101274 chr12 49427265 49427265 - TGC rs398123707 KMT2D Q3745_H3746insQ 0 0.003 0 1 0 1 0.003 0 0 0 0 0 101275 chr22 44681358 44681358 C T SHISAL1 Synonymous SNV R183R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.705 101276 chr20 44519224 44519224 - T rs201802475 NEURL2 Frameshift insertion S136Kfs*15 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 101277 chr1 60370671 60370671 C T rs144856672 CYP2J2 Nonsynonymous SNV A355T 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 24.4 101278 chr1 62257020 62257020 G T PATJ Nonsynonymous SNV D357Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 101279 chr22 46931253 46931253 C T CELSR1 Synonymous SNV V605V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.13 101280 chr20 46254213 46254213 G A rs200928001 NCOA3 Synonymous SNV P115P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.92 101281 chr1 62672864 62672864 C A rs138000139 L1TD1 Synonymous SNV R188R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.86 101282 chr2 133174887 133174887 T G rs754836306 GPR39 Nonsynonymous SNV F91C 0.009 0.005 0 0 10 2 0 0 0 0 0 0 27 101283 chr2 231902471 231902471 C G rs190787545 C2orf72 Nonsynonymous SNV A64G 0.014 0.021 0 2 17 8 0.005 0 8 3 0 1 0.011 101284 chr1 65098304 65098304 C A CACHD1 Synonymous SNV R223R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 101285 chr1 65098407 65098407 C T CACHD1 Nonsynonymous SNV A257V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 101286 chr22 50671814 50671814 C T rs750202143 TUBGCP6 Synonymous SNV E349E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 101287 chr22 50926132 50926132 C T rs78273329 MIOX Synonymous SNV L46L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.8 101288 chr22 50943094 50943094 G A rs2301150 LMF2 Synonymous SNV H475H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 2.199 101289 chr22 50719920 50719920 G A rs201645775 PLXNB2 Synonymous SNV F1177F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 101290 chr12 42499809 42499809 T G rs75194020 GXYLT1 Synonymous SNV P194P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.01 101291 chr12 44165993 44165993 C G rs56338336 IRAK4 Synonymous SNV P106P 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign/Likely benign 7.497 101292 chr11 61106641 61106641 C T rs75924231 TKFC Synonymous SNV A99A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 15.16 101293 chr1 67507943 67507943 C T rs142750829 SLC35D1 Synonymous SNV A235A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.89 101294 chr4 663933 663933 C G PDE6B Nonsynonymous SNV S461C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.665 101295 chr4 68586450 68586450 C A rs7697056 UBA6-AS1 0 0 0.031 0 0 0 0 9 0 0 4 0 4.95 101296 chr2 137990593 137990593 T G rs528612993 THSD7B Synonymous SNV T680T 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 8.997 101297 chr2 238253285 238253285 C T rs777496872 COL6A3 Nonsynonymous SNV R1852Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.5 101298 chr12 49399132 49399132 G C rs1126930 PRKAG1 Nonsynonymous SNV T98S 0.011 0.01 0.027 5 13 4 0.013 8 0 0 0 0 22.7 101299 chr2 107460162 107460162 G A rs80079355 ST6GAL2 Nonsynonymous SNV A91V 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 4.465 101300 chr12 49951296 49951296 C G rs142732864 KCNH3 Nonsynonymous SNV L878V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.28 101301 chr20 60585138 60585138 C T rs771858376 TAF4 Synonymous SNV T575T 0.008 0 0 3 9 0 0.008 0 0 0 0 0 12.35 101302 chr2 108994856 108994856 C T rs182283560 SULT1C4 Synonymous SNV Y21Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.097 101303 chr12 50043687 50043687 A G rs61733848 FMNL3 Synonymous SNV P623P 0.013 0.016 0.017 8 15 6 0.021 5 0 1 0 0 4.551 101304 chr4 74702729 74702729 G T rs370928506 CXCL6 Nonsynonymous SNV R53L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.355 101305 chr20 60888406 60888406 C T rs377307153 LAMA5 Synonymous SNV T2923T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 18.96 101306 chr12 53621248 53621248 C T rs147050100 RARG Nonsynonymous SNV A28T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.4 101307 chr4 76956244 76956246 GTT - rs553024147 CXCL11 Q72del 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 101308 chr12 53663546 53663546 G A rs533105519 ESPL1 Nonsynonymous SNV A274T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.222 101309 chr2 110107362 110107362 G A rs140703944 SH3RF3 Nonsynonymous SNV R817H 0.005 0 0.003 0 6 0 0 1 0 0 0 0 27.6 101310 chr2 111721257 111721257 C G ACOXL Synonymous SNV A372A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16.31 101311 chr1 878029 878029 C T rs532223862 SAMD11 Synonymous SNV N385N 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 11.28 101312 chr2 113479762 113479762 G A rs759008773 NT5DC4 Nonsynonymous SNV R69Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 101313 chr2 113940062 113940062 A G rs150242804 PSD4 Nonsynonymous SNV H10R 0.003 0 0 0 3 0 0 0 0 0 0 0 8.838 101314 chr2 113940280 113940280 G C rs1562277 PSD4 Nonsynonymous SNV G83R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 101315 chr12 55968360 55968360 G C rs919338102 OR2AP1 Nonsynonymous SNV Q54H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.931 101316 chr4 8239236 8239236 C T rs150050649 SH3TC1 Synonymous SNV L1122L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 101317 chr12 56629064 56629064 C T rs151172329 SLC39A5 Nonsynonymous SNV A253V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 101318 chr4 8239317 8239317 C T rs772095847 SH3TC1 Nonsynonymous SNV P1149S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 101319 chr2 120005751 120005751 G A rs199836424 STEAP3 Nonsynonymous SNV R330H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 29.7 101320 chr12 52639458 52639458 C T rs145650053 KRT7-AS 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.167 101321 chr12 52642474 52642474 C T rs545899775 KRT7 Nonsynonymous SNV A447V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.59 101322 chr4 84370025 84370025 C T rs562010536 HELQ Nonsynonymous SNV V368M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 34 101323 chr12 56995571 56995571 T C rs367656362 BAZ2A Nonsynonymous SNV H1277R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.137 101324 chr11 65734807 65734807 C T rs773479109 SART1 Synonymous SNV D422D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.224 101325 chr1 90179041 90179041 A C rs72712583 LRRC8C Nonsynonymous SNV K304N 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 1.447 101326 chr4 85742698 85742698 C T rs760869367 WDFY3 Nonsynonymous SNV S377N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 101327 chr11 66812078 66812078 G T rs200935538 SYT12 Synonymous SNV V169V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 5.691 101328 chr1 92185573 92185573 G A TGFBR3 Synonymous SNV P429P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.186 101329 chr20 8665640 8665640 A G rs6056003 PLCB1 Synonymous SNV S308S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign/Likely benign 0.037 101330 chr12 57872490 57872490 T C rs138307224 ARHGAP9 Nonsynonymous SNV S123G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 101331 chr11 67223651 67223651 C T rs200871690 CABP4 Nonsynonymous SNV P15L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 4.782 101332 chr4 88537063 88537063 A C rs142295724 DSPP Nonsynonymous SNV E1083D 0 0 0.112 0 0 0 0 33 0 0 11 0 6.281 101333 chr4 88537073 88537081 AGCAGTGAC - rs367717407 DSPP D1089_S1091del 0 0 0.129 0 0 0 0 38 0 0 15 0 101334 chr4 88537088 88537088 A G rs201754564 DSPP Nonsynonymous SNV N1092D 0 0 0.129 0 0 0 0 38 0 0 16 0 0.183 101335 chr21 17250749 17250749 C T rs141841248 USP25 Synonymous SNV A820A 0.008 0.01 0.003 8 9 4 0.021 1 0 0 0 0 13.28 101336 chr4 95496940 95496940 G A rs115743950 PDLIM5 Synonymous SNV A33A 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign 16.98 101337 chr2 137928347 137928347 C G rs201466142 THSD7B Nonsynonymous SNV S521C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 101338 chr2 175202185 175202211 GCGGCGGCGGCGGCAGCGGCGGCGGCG - SP9 A462_A470del 0.004 0.005 0 0 5 2 0 0 0 0 0 0 101339 chr2 152222731 152222731 G A rs79800957 TNFAIP6 Nonsynonymous SNV A132T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.87 101340 chr2 179368562 179368562 T C rs61748249 PLEKHA3 Nonsynonymous SNV M284T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 0.001 101341 chr2 141356241 141356241 C T rs764483142 LRP1B Nonsynonymous SNV G2385R 0.002 0 0 0 2 0 0 0 0 0 0 0 33 101342 chr2 179440163 179440163 C G rs55801134 TTN Nonsynonymous SNV G14501R 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign/Likely benign 22 101343 chr5 10450100 10450100 G C ROPN1L Nonsynonymous SNV E98Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.563 101344 chr2 179456902 179456902 G A rs369476725 TTN Nonsynonymous SNV T10845I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.5 101345 chr21 34399893 34399893 C T rs974358276 OLIG2 Synonymous SNV A241A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.217 101346 chr12 55725985 55725985 T C rs749860920 OR6C3 Synonymous SNV A167A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 2.855 101347 chr2 179486223 179486223 C T rs17354992 TTN Nonsynonymous SNV D6045N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 101348 chr21 34975815 34975815 C T rs148269698 CRYZL1 Synonymous SNV T120T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.38 101349 chr2 179585312 179585312 G A rs17452588 TTN Nonsynonymous SNV S6482L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 101350 chr5 110436301 110436301 G A rs137855986 WDR36 Synonymous SNV Q197Q 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 Likely benign 0.959 101351 chr12 56109824 56109824 C T rs115612389 BLOC1S1-RDH5 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 8.624 101352 chr2 152321091 152321091 G A rs61748233 RIF1 Nonsynonymous SNV R1686Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.1 101353 chr5 112256910 112256910 T G rs566604759 REEP5 Synonymous SNV G54G 0 0 0.007 0 0 0 0 2 0 0 0 0 9.097 101354 chr2 152380923 152380923 A G NEB Nonsynonymous SNV Y5760H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 101355 chr11 76903245 76903245 C T rs78996818 MYO7A Synonymous SNV S1358S 0.009 0.003 0.017 2 10 1 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 9.631 101356 chr2 152530992 152530992 T G rs115986826 NEB Nonsynonymous SNV D1329A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 101357 chr2 153475605 153475605 C T rs375095309 FMNL2 Synonymous SNV A520A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.41 101358 chr5 115822465 115822465 C T rs767511346 SEMA6A Synonymous SNV T314T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 101359 chr5 118456773 118456773 T G DMXL1 Synonymous SNV T347T 0 0 0.007 0 0 0 0 2 0 0 0 0 8.775 101360 chr2 16080031 16080034 TTAT - rs895519891 MYCNOS 0.002 0 0 0 2 0 0 0 0 0 0 0 101361 chr2 15618404 15618404 C G rs76459791 NBAS Nonsynonymous SNV D365H 0.01 0.003 0.01 3 12 1 0.008 3 0 0 0 0 Benign/Likely benign 26.8 101362 chr2 1653217 1653217 G T PXDN Synonymous SNV R779R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.333 101363 chr12 96077486 96077486 C T rs148907075 NTN4 Synonymous SNV P394P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.507 101364 chr5 122751740 122751740 G T CEP120 Synonymous SNV I69I 0 0 0.007 0 0 0 0 2 0 0 0 0 13.7 101365 chr5 122881399 122881399 A G rs916887204 CSNK1G3 Synonymous SNV R14R 0 0 0.007 0 0 0 0 2 0 0 0 0 5.394 101366 chr12 62954833 62954833 C T rs151276772 MON2 Synonymous SNV T1324T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.81 101367 chr5 129015556 129015556 G A rs201713825 ADAMTS19 Nonsynonymous SNV R869Q 0 0 0.007 0 0 0 0 2 0 0 0 0 32 101368 chr2 168115568 168115568 T C rs151294213 XIRP2 Nonsynonymous SNV S616P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 7.919 101369 chr2 47314252 47314252 T C rs573355711 STPG4 Synonymous SNV G214G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 101370 chr2 169781299 169781299 G A rs772714766 ABCB11 Synonymous SNV N1211N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.49 101371 chr21 43531328 43531328 G A rs779379708 UMODL1 Nonsynonymous SNV E594K 0.004 0 0 4 5 0 0.01 0 0 0 0 0 0.03 101372 chr12 66725138 66725138 G A rs146761912 HELB Nonsynonymous SNV G959S 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 0.031 101373 chr2 189917736 189917736 G A rs148430780 COL5A2 Synonymous SNV D854D 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign/Likely benign 11.85 101374 chr2 170127524 170127524 G A rs201860953 LRP2 Nonsynonymous SNV S737L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 101375 chr2 196822171 196822171 T C rs747621024 DNAH7 Synonymous SNV R964R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 12.13 101376 chr5 132535362 132535362 G C rs190274064 FSTL4 Nonsynonymous SNV L652V 0 0 0.01 0 0 0 0 3 0 0 0 0 22.4 101377 chr12 69993776 69993776 G A rs61754224 CCT2 Synonymous SNV A476A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 12.12 101378 chr12 104458380 104458380 C T rs548899947 HCFC2 Synonymous SNV S14S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.36 101379 chr2 170103278 170103278 A G rs758068478 LRP2 Nonsynonymous SNV Y1043H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 101380 chr2 201677213 201677213 C T rs544253385 BZW1 Nonsynonymous SNV T28I 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 6.693 101381 chr12 71978131 71978131 C G rs113809442 LGR5 Nonsynonymous SNV P757A 0.01 0.003 0.003 3 12 1 0.008 1 0 0 0 0 Benign 24 101382 chr5 137519732 137519732 T C rs370662508 KIF20A Synonymous SNV I430I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.092 101383 chr2 173885386 173885386 G A rs201442045 RAPGEF4 Synonymous SNV T512T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 101384 chr2 64208829 64208829 G C VPS54 Nonsynonymous SNV P98R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 101385 chr2 175289259 175289259 G T rs41270195 SCRN3 Nonsynonymous SNV S318I 0.013 0.021 0.01 5 15 8 0.013 3 0 0 0 0 6.06 101386 chr12 77449844 77449844 A T rs757642250 E2F7 Nonsynonymous SNV L54I 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 101387 chr11 103055651 103055651 G T rs764241639 DYNC2H1 Nonsynonymous SNV L2168F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.1 101388 chr20 30450474 30450474 C T rs144209916 DUSP15 Nonsynonymous SNV R9Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 101389 chr2 68717350 68717350 A T rs147962002 APLF Nonsynonymous SNV H42L 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 24.2 101390 chr5 140019179 140019179 - GGCGGGAGCGGGAGGCAGGTGTG TMCO6 Frameshift insertion A29Gfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 101391 chr2 179447368 179447372 TAGAG - TTN-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 101392 chr12 113405296 113405296 C T OAS3 Synonymous SNV G921G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.94 101393 chr12 88471495 88471499 TTTAA - CEP290 I1854Kfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 101394 chr12 113549909 113549909 G A rs377165995 RASAL1 Synonymous SNV F452F 0 0.005 0 3 0 2 0.008 0 0 0 0 0 Likely benign 3.336 101395 chr2 207171050 207171050 G A rs192447754 ZDBF2 Nonsynonymous SNV V600I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 2.902 101396 chr2 179528038 179528038 A C rs12994774 TTN Nonsynonymous SNV L12219V 0.007 0 0 0 8 0 0 0 4 0 0 0 Conflicting interpretations of pathogenicity 0.002 101397 chr2 179554549 179554549 G C rs200213832 TTN Nonsynonymous SNV P9369A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.41 101398 chr5 140620431 140620431 T - rs3217232 PCDHB19P 0 0 0.099 0 0 0 0 29 0 0 3 0 101399 chr20 35125283 35125283 G A rs376032299 DLGAP4 Synonymous SNV S69S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 101400 chr11 113679060 113679060 C T rs146774708 USP28 Nonsynonymous SNV R422H 0.003 0 0 0 3 0 0 0 0 0 0 0 13.29 101401 chr20 36846723 36846723 G A rs143941210 KIAA1755 Synonymous SNV L519L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.02 101402 chr22 18226590 18226590 G A rs61757628 BID Nonsynonymous SNV R68C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.2 101403 chr2 211442163 211442163 C A CPS1 Nonsynonymous SNV L134M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.6 101404 chr2 85531116 85531116 C T rs41288837 TCF7L1 Nonsynonymous SNV P253S 0.013 0.005 0.014 8 15 2 0.021 4 1 0 0 0 24.3 101405 chr2 21362993 21362993 G A rs146562522 TDRD15 Nonsynonymous SNV R885K 0.01 0.023 0.02 7 12 9 0.018 6 1 0 0 0 5.204 101406 chr2 21238324 21238324 C T rs142448733 APOB Synonymous SNV S1142S 0.004 0.018 0 8 5 7 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.288 101407 chr2 8871414 8871414 C T rs377453269 KIDINS220 Synonymous SNV S1528S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.284 101408 chr22 22293936 22293938 TCC - rs749703356 PPM1F E107del 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 101409 chr2 216248846 216248846 G A rs374970848 FN1 Synonymous SNV S1506S 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 Benign 8.726 101410 chr20 44520237 44520237 - CTG rs540291608 CTSA L37_V38insL 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 101411 chr12 124288213 124288213 G A rs77726895 DNAH10 Nonsynonymous SNV G756S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 0.516 101412 chr20 44806808 44806808 G C rs145141491 CDH22 Nonsynonymous SNV H564Q 0.01 0.01 0 6 12 4 0.015 0 0 0 0 0 23 101413 chr2 189864023 189864023 G A rs41263773 COL3A1 Nonsynonymous SNV A679T 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign/Likely benign 22.7 101414 chr12 124371782 124371782 G A rs76586219 DNAH10 Nonsynonymous SNV A2855T 0.004 0 0.01 1 5 0 0.003 3 0 0 1 0 Benign 1.458 101415 chr12 110206245 110206245 G A rs201640109 FAM222A Nonsynonymous SNV G171S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.18 101416 chr20 4705364 4705364 C T rs35453518 PRND Nonsynonymous SNV P56L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 24.5 101417 chr12 110206809 110206809 G A rs143726568 FAM222A Nonsynonymous SNV D359N 0.005 0.005 0 0 6 2 0 0 0 0 0 0 31 101418 chr12 110221488 110221488 G A rs372583866 TRPV4 Nonsynonymous SNV R745C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Uncertain significance 22.7 101419 chr2 190428542 190428542 A G SLC40A1 Synonymous SNV S390S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 101420 chr12 124422024 124422024 G T rs137881473 CCDC92 Nonsynonymous SNV P176T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 101421 chr2 219674320 219674320 C T rs141519183 CYP27A1 Synonymous SNV Y92Y 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.52 101422 chr2 219688502 219688502 C T rs149508864 PRKAG3 Nonsynonymous SNV D485N 0.006 0.01 0 0 7 4 0 0 0 0 0 0 23.1 101423 chr2 201194152 201194152 A G rs781565224 SPATS2L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 101424 chr12 112280677 112280677 T C rs552728337 MAPKAPK5-AS1 0.004 0.005 0 0 5 2 0 0 0 0 0 0 6.015 101425 chr12 124886979 124886979 C T rs202047482 NCOR2 Synonymous SNV E536E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.75 101426 chr2 220101144 220101144 C G rs765882615 ANKZF1 Nonsynonymous SNV Q510E 0.003 0.01 0 0 4 4 0 0 0 0 0 0 4.109 101427 chr20 49493079 49493079 G C BCAS4 Nonsynonymous SNV E137D 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 7.697 101428 chr2 219692033 219692033 C T rs61756441 PRKAG3 Synonymous SNV P313P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 10.21 101429 chr5 156964931 156964931 C T rs1023266655 ADAM19 Nonsynonymous SNV R107Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 101430 chr20 54824557 54824557 C A rs61735259 MC3R Nonsynonymous SNV R220S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 101431 chr12 117426486 117426486 G C FBXW8 Nonsynonymous SNV V285L 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 22.2 101432 chr20 5585052 5585052 G A rs76150038 GPCPD1 Nonsynonymous SNV P3S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.59 101433 chr3 112256681 112256681 G A rs747067506 ATG3 Synonymous SNV G189G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 101434 chr3 112991265 112991265 G A rs373840149 BOC Nonsynonymous SNV A226T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 101435 chr2 220352966 220352966 G A SPEG Nonsynonymous SNV G2598R 0 0.008 0 0 0 3 0 0 0 0 0 0 33 101436 chr20 57036364 57036364 C A rs145873693 APCDD1L Nonsynonymous SNV V330L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.52 101437 chr12 120593110 120593110 G A rs372885273 GCN1 Nonsynonymous SNV R1189C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.5 101438 chr12 120601014 120601014 G A rs77695791 GCN1 Nonsynonymous SNV A633V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.045 101439 chr2 220413981 220413981 G A rs149471088 TMEM198 Nonsynonymous SNV G284S 0.002 0.008 0.01 4 2 3 0.01 3 0 0 0 0 24 101440 chr22 31010409 31010409 C T rs144652799 TCN2 Synonymous SNV H167H 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign/Likely benign 14.47 101441 chr2 20870900 20870900 G C rs779193439 GDF7 Synonymous SNV V356V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.594 101442 chr5 171765480 171765483 CAAA - rs551498843 SH3PXD2B F876Kfs*16 0.003 0 0.007 0 4 0 0 2 0 0 0 0 101443 chr22 31484072 31484072 G A rs755480051 SMTN Nonsynonymous SNV R114Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 101444 chr5 172384195 172384195 G A rs937163649 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 8.734 101445 chr5 174869179 174869179 A G rs759420920 DRD1 Synonymous SNV I308I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.166 101446 chr5 176023946 176023946 C G GPRIN1 Nonsynonymous SNV G964R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 101447 chr3 119176909 119176909 C T rs746922013 TMEM39A Nonsynonymous SNV V98M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 101448 chr3 119306449 119306449 G A rs144292904 ADPRH Stop gain W159X 0.003 0 0 0 3 0 0 0 0 0 0 0 39 101449 chr11 129747250 129747250 C T rs142024452 NFRKB Synonymous SNV T539T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.42 101450 chr13 23907278 23907278 C T rs199970621 SACS Nonsynonymous SNV M3432I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 13.1 101451 chr11 130070013 130070013 A G rs778881984 ST14 Nonsynonymous SNV I659V 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.001 101452 chr12 122277682 122277682 C T rs139024632 HPD Synonymous SNV R378R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 101453 chr13 23915089 23915089 G A rs139993038 SACS Nonsynonymous SNV R829C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 32 101454 chr3 121137224 121137224 G A rs150797963 STXBP5L Synonymous SNV A1089A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.257 101455 chr3 121192201 121192201 C T rs765192505 POLQ Nonsynonymous SNV S2180N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 101456 chr13 26043251 26043251 C T rs370807035 ATP8A2 Synonymous SNV N31N 0 0 0 2 0 0 0.005 0 0 0 0 0 15.42 101457 chr12 123351687 123351687 G T rs201973753 VPS37B Nonsynonymous SNV H278Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 101458 chr12 124069214 124069214 C T rs11551723 TMED2 Synonymous SNV L11L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.81 101459 chr12 675240 675240 G A rs138445776 NINJ2 Synonymous SNV N39N 0.003 0 0 0 3 0 0 0 0 0 0 0 11.87 101460 chr2 230450707 230450707 C T rs139503753 DNER Synonymous SNV L238L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.63 101461 chr2 216256455 216256455 A G rs761361752 FN1 Synonymous SNV I1293I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.298 101462 chr5 179227238 179227238 G A rs144262409 MGAT4B Synonymous SNV L262L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.59 101463 chr2 231973363 231973363 G A rs61731723 HTR2B Synonymous SNV N438N 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 3.213 101464 chr2 231988327 231988327 C T rs61731726 HTR2B Nonsynonymous SNV G51E 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 19.83 101465 chr2 232028396 232028396 A G rs35852025 PSMD1 Synonymous SNV A812A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 11.89 101466 chr22 37533655 37533655 C T rs749152355 IL2RB Nonsynonymous SNV R170Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.91 101467 chr20 61834779 61834779 G A rs147844381 YTHDF1 Synonymous SNV S171S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 9.123 101468 chr2 232320281 232320281 G A rs78372304 NCL Synonymous SNV A629A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 11.55 101469 chr20 61881374 61881374 C T rs199529437 NKAIN4 Synonymous SNV A35A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.44 101470 chr2 232660840 232660840 A C rs368683105 COPS7B Nonsynonymous SNV K63Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 10.87 101471 chr5 31323058 31323058 T C rs146257998 CDH6 Synonymous SNV F672F 0.001 0 0.017 0 1 0 0 5 0 0 0 0 2.148 101472 chr2 219000460 219000460 C T rs45606837 CXCR2 Synonymous SNV L312L 0.018 0.031 0.017 5 21 12 0.013 5 0 1 0 0 10.93 101473 chr12 5154232 5154232 C T rs17215409 KCNA5 Nonsynonymous SNV P307S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 101474 chr22 38321806 38321806 C T rs143910997 MICALL1 Synonymous SNV T407T 0.024 0.01 0.017 7 28 4 0.018 5 0 0 1 1 12.63 101475 chr2 234394568 234394568 C T rs61736676 USP40 Nonsynonymous SNV A1084T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.026 101476 chr2 234398065 234398065 G A rs34026756 USP40 Nonsynonymous SNV T1025M 0 0.005 0 0 0 2 0 0 0 0 0 0 24.8 101477 chr22 38482327 38482327 G A rs191324911 BAIAP2L2 Synonymous SNV A463A 0.004 0.003 0.007 6 5 1 0.015 2 0 0 0 0 5.696 101478 chr2 234450913 234450913 C T rs960683628 USP40 0 0.005 0 0 0 2 0 0 0 0 0 0 24.7 101479 chr2 234701492 234701492 A G rs57674070 MROH2A Nonsynonymous SNV M208V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23 101480 chr2 219515185 219515185 C T rs186337382 ZNF142 Synonymous SNV Q115Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 101481 chr22 39111956 39111956 T G rs772578049 GTPBP1 Nonsynonymous SNV Y117D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 101482 chr5 33988216 33988216 G A rs16892066 C1QTNF3-AMACR 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 2.038 101483 chr22 39413824 39413824 C T rs140381208 APOBEC3C Synonymous SNV C76C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 101484 chr2 234708922 234708922 T C rs28900431 MROH2A Synonymous SNV T507T 0 0.005 0 0 0 2 0 0 0 0 0 0 1.75 101485 chr5 35013058 35013058 C T rs114286107 AGXT2 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 Benign/Likely benign 25.1 101486 chr3 126220147 126220169 AGGTGCCCCCTGCACCTGTGCAT - rs757718986 UROC1 G351_P353del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 101487 chr20 62597674 62597674 G A rs373877494 ZNF512B Nonsynonymous SNV T285M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.7 101488 chr2 237074635 237074635 G A rs114693893 GBX2 Synonymous SNV I323I 0.01 0.01 0.003 0 12 4 0 1 0 0 0 0 14.22 101489 chr2 235950391 235950391 C T rs35039245 SH3BP4 Synonymous SNV S326S 0.029 0.023 0.027 15 34 9 0.038 8 1 0 0 0 7.729 101490 chr2 237489548 237489548 C T ACKR3 Nonsynonymous SNV T147I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.4 101491 chr13 20207945 20207945 C T rs113455539 MPHOSPH8 Synonymous SNV D19D 0.007 0 0 3 8 0 0.008 0 1 0 0 0 4.646 101492 chr5 38950756 38950756 T C rs199854036 RICTOR Nonsynonymous SNV N1065S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 101493 chr5 39202604 39202604 C T rs369250314 FYB1 Synonymous SNV P163P 0.004 0 0.007 0 5 0 0 2 0 0 0 0 7.97 101494 chr2 238274569 238274569 G T rs113153193 COL6A3 Nonsynonymous SNV S1263R 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 101495 chr13 20426142 20426142 - CAT rs112044779 ZMYM5 D59_V60insD 0.002 0 0 1 2 0 0.003 0 0 0 0 0 101496 chr2 238475737 238475737 G A rs145946342 PRLH Synonymous SNV G61G 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 2.277 101497 chr13 21219030 21219030 G T rs143955467 IFT88 Nonsynonymous SNV A580S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.68 101498 chr13 49794476 49794476 G A rs372763744 MLNR Star tloss M1? 0.009 0.003 0.007 4 11 1 0.01 2 0 0 0 0 23.3 101499 chr12 7981305 7981305 G A rs778496220 SLC2A14 Nonsynonymous SNV T138M 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.067 101500 chr2 239039332 239039332 C T rs180778335 ESPNL Synonymous SNV F291F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.696 101501 chr13 21751049 21751049 A G rs367621487 MRPL57 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.76 101502 chr2 223793599 223793599 C T ACSL3 Synonymous SNV G495G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.62 101503 chr2 239072537 239072537 C T ERFE Nonsynonymous SNV P195L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.65 101504 chr2 225266311 225266311 A T FAM124B Nonsynonymous SNV S59T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.222 101505 chr2 225659728 225659728 G A rs113265459 DOCK10 Synonymous SNV H1668H 0.015 0.021 0.024 11 18 8 0.028 7 0 0 0 0 9.756 101506 chr2 225739464 225739464 C T rs61741507 DOCK10 Synonymous SNV S306S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 101507 chr2 227663428 227663428 G A rs771634742 IRS1 Synonymous SNV G9G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.834 101508 chr13 28014173 28014173 T C rs140262959 MTIF3 Nonsynonymous SNV Q138R 0.014 0.026 0.01 6 16 10 0.015 3 0 0 0 0 Likely benign 21.2 101509 chr13 28366877 28366879 AGA - rs756729588 GSX1 K19del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 101510 chr22 45681922 45681922 C T UPK3A Synonymous SNV S51S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.66 101511 chr5 5460964 5460964 G A rs770520751 ICE1 Nonsynonymous SNV R506Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.842 101512 chr5 55243392 55243392 G A rs201141621 IL6ST Synonymous SNV V290V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.89 101513 chr13 31848685 31848685 C T rs751610730 B3GLCT Synonymous SNV L234L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 15.42 101514 chr2 231326031 231326031 G A rs116484154 SP100 Nonsynonymous SNV R267Q 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Likely benign 0.093 101515 chr3 13381419 13381419 C T rs114096350 NUP210 Nonsynonymous SNV G1136S 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 Benign 16.69 101516 chr2 231775543 231775543 G A rs35822326 GPR55 Synonymous SNV F45F 0.008 0.008 0.003 4 9 3 0.01 1 0 0 0 0 0.536 101517 chr5 57825920 57825920 A G rs10461441 MIR548AE2 0 0 0.041 0 0 0 0 12 0 0 2 0 3.243 101518 chr2 232457785 232457785 C T rs142682002 TEX44 Synonymous SNV V41V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 12.58 101519 chr2 233321703 233321703 G A rs757418119 ALPI Nonsynonymous SNV S132N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.067 101520 chr5 63509662 63509662 G A rs139361682 RNF180 Nonsynonymous SNV R170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.617 101521 chr2 24483979 24483979 C G rs41281485 ITSN2 Nonsynonymous SNV G853A 0.011 0.016 0 4 13 6 0.01 0 0 0 0 0 24 101522 chr21 37408491 37408491 G C rs76492178 SETD4 Nonsynonymous SNV S416C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 22.8 101523 chr2 26999291 26999291 T C SLC35F6 Nonsynonymous SNV L196P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 29.5 101524 chr2 27322075 27322075 C T KHK Synonymous SNV S192S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 14.28 101525 chr2 234727410 234727410 C A rs11563102 MROH2A Synonymous SNV I1066I 0.015 0.01 0.017 6 18 4 0.015 5 0 1 0 0 14.97 101526 chr3 139257634 139257634 G A rs150001856 RBP1 Nonsynonymous SNV R143C 0.006 0 0 1 7 0 0.003 0 0 0 0 0 35 101527 chr2 27361169 27361169 A G PRR30 Nonsynonymous SNV L10P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.8 101528 chr13 107187295 107187295 G A rs151018760 EFNB2 Synonymous SNV D6D 0.012 0.018 0 3 14 7 0.008 0 0 0 0 0 10.54 101529 chr13 108518687 108518689 CTG - rs756515049 FAM155A Q86del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 101530 chr13 109472733 109472733 G A rs41308564 MYO16 Nonsynonymous SNV V306M 0.019 0.026 0.007 8 22 10 0.021 2 0 1 0 0 14.46 101531 chr12 25308296 25308296 C G CASC1 Nonsynonymous SNV R18S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.108 101532 chr21 43413219 43413219 A G rs149159484 ZBTB21 Nonsynonymous SNV I329T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 101533 chr12 26275572 26275583 GCCGCCGCCGCT - rs753880774 BHLHE41 S289_G292del 0.003 0 0 0 4 0 0 0 0 0 0 0 101534 chr5 75427966 75427966 G A rs367890274 SV2C Nonsynonymous SNV E131K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.7 101535 chr2 29237314 29237314 C G rs146532049 TOGARAM2 Nonsynonymous SNV P311A 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 0.195 101536 chr13 113201867 113201867 - TGGGAAAGTCGCGCG TUBGCP3 P416_M417insTRDFP 0 0.003 0 1 0 1 0.003 0 0 0 0 0 101537 chr13 113803311 113803311 A G rs144679674 F10 Nonsynonymous SNV K272R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 101538 chr21 43691208 43691208 C T rs191666990 ABCG1 Synonymous SNV S105S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.189 101539 chr5 78379115 78379115 G T rs59804781 BHMT2 Synonymous SNV A169A 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 1.233 101540 chr21 44480631 44480631 C T rs748552493 CBS, CBSL Synonymous SNV A250A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.92 101541 chr2 30980925 30980925 G A rs773595409 CAPN13 Nonsynonymous SNV R285C 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 23.6 101542 chr5 7863112 7863112 - A rs546325772 FASTKD3 0.003 0.003 0.014 3 3 1 0.008 4 0 0 0 0 101543 chr2 241405562 241405562 G A rs150103667 GPC1 Nonsynonymous SNV R511Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 101544 chr2 36583652 36583652 A C CRIM1 Nonsynonymous SNV S73R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 101545 chr5 79368410 79368410 T G CTD-2201I18.1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.951 101546 chr5 79375018 79375018 G A rs751672404 THBS4 Synonymous SNV T725T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 101547 chr5 79378940 79378940 G C rs140954796 THBS4 Nonsynonymous SNV Q863H 0.008 0.013 0.003 0 9 5 0 1 0 0 0 0 23.9 101548 chr5 79616418 79616418 T C rs755075819 SPZ1 Synonymous SNV P128P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 101549 chr13 77574606 77574606 C A rs138611001 CLN5 Nonsynonymous SNV N193K 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 Benign 23.3 101550 chr2 10930911 10930911 C T rs145487229 PDIA6 Synonymous SNV T211T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.96 101551 chr2 39006171 39006171 A G GEMIN6 Synonymous SNV Q13Q 0.006 0.013 0 0 7 5 0 0 0 1 0 0 6.829 101552 chr2 241835088 241835088 G A rs368019894 MAB21L4 Synonymous SNV C109C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 101553 chr2 241903150 241903150 C T rs765821735 CROCC2 Synonymous SNV L1089L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.199 101554 chr2 39095503 39095503 A G rs770339884 DHX57 Synonymous SNV G15G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.01 101555 chr5 8460868 8460868 A G rs115884338 MIR4458HG 0 0 0.024 0 0 0 0 7 0 0 0 0 0.115 101556 chr3 167039905 167039905 C A ZBBX Nonsynonymous SNV R328I 0.002 0 0 0 2 0 0 0 0 0 0 0 34 101557 chr5 89971253 89971253 G A rs41303346 ADGRV1 Synonymous SNV E1768E 0.004 0.013 0.017 1 5 5 0.003 5 0 0 0 0 Benign 11.17 101558 chr5 90001237 90001237 G A rs111033530 ADGRV1 Nonsynonymous SNV A2803T 0.004 0.013 0.014 1 5 5 0.003 4 0 0 0 0 Benign/Likely benign 33 101559 chr2 43805717 43805717 A G rs776978690 THADA Nonsynonymous SNV S251P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 27.1 101560 chr2 242430519 242430519 G A rs777762724 FARP2 Nonsynonymous SNV A850T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 101561 chr2 48734521 48734521 C T rs781766986 PPP1R21 Synonymous SNV A652A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 20.9 101562 chr2 25387624 25387624 G A rs8192605 POMC Synonymous SNV C6C 0.008 0 0.003 3 9 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.492 101563 chr21 47588427 47588427 G A rs74486947 SPATC1L Synonymous SNV P113P 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 2.555 101564 chr21 47588465 47588465 C T rs77889636 SPATC1L Nonsynonymous SNV D101N 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 23.5 101565 chr2 44055163 44055163 C T rs141828689 ABCG5 Nonsynonymous SNV R198Q 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 101566 chr2 26699014 26699014 C T rs199613764 OTOF Nonsynonymous SNV V260I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.34 101567 chr2 44502691 44502691 G A rs147004629 SLC3A1 Nonsynonymous SNV S6N 0.005 0.008 0 0 6 3 0 0 0 0 0 0 0.361 101568 chr2 46608771 46608771 G T EPAS1 Synonymous SNV V694V 0.005 0.008 0 0 6 3 0 0 0 0 0 0 0.667 101569 chr2 55464496 55464496 T C MTIF2 Nonsynonymous SNV R647G 0 0.008 0 0 0 3 0 0 0 0 0 0 27.9 101570 chr2 26410254 26410254 C T rs531671860 GAREM2 Nonsynonymous SNV R585W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 101571 chr5 98106280 98106280 G T rs556554417 RGMB-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.301 101572 chr2 26540935 26540935 T C ADGRF3 Nonsynonymous SNV K79E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.309 101573 chr3 183212035 183212035 A G rs190873585 KLHL6 Synonymous SNV Y394Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.263 101574 chr21 47850107 47850107 G A rs8131693 PCNT Nonsynonymous SNV R2507Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 3.559 101575 chr13 111114703 111114703 A G rs368207474 COL4A2 Nonsynonymous SNV D583G 0.003 0 0 0 4 0 0 0 0 0 0 0 23 101576 chr13 111141841 111141841 C T rs370679299 COL4A2 Nonsynonymous SNV A1086V 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.2 101577 chr21 47949017 47949017 G A rs16979312 DIP2A Nonsynonymous SNV S329N 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 26.8 101578 chr14 24035079 24035079 C T rs140983547 AP1G2 Synonymous SNV T125T 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 18.56 101579 chr14 24534378 24534378 C A rs184205478 CARMIL3 Nonsynonymous SNV P1098T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.9 101580 chr2 27439786 27439786 G A rs970865789 ATRAID Synonymous SNV A220A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.02 101581 chr12 51634868 51634868 T C DAZAP2 Nonsynonymous SNV F84L 0.003 0 0 8 3 0 0.021 0 0 0 0 0 16.34 101582 chr2 62067054 62067054 C A rs200813667 FAM161A Nonsynonymous SNV R362L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Uncertain significance 17.23 101583 chr22 19211534 19211534 G A rs782449822 CLTCL1 Synonymous SNV D724D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.5 101584 chr13 114507966 114507966 G - rs775366515 TMEM255B V260Sfs*73 0.004 0 0 2 5 0 0.005 0 0 0 0 0 101585 chr3 186390618 186390618 C T rs140916341 HRG Nonsynonymous SNV R201W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.3 101586 chr2 31154990 31154990 G C rs34910566 GALNT14 Synonymous SNV V334V 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 10.79 101587 chr22 19964998 19964998 C T ARVCF Nonsynonymous SNV V604I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.303 101588 chr2 149541259 149541259 C T rs775703289 EPC2 Nonsynonymous SNV R651C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 101589 chr2 149818554 149818554 T C rs148636726 KIF5C Synonymous SNV Y346Y 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 1.932 101590 chr2 73613031 73613031 - GGAGGAGGAGGA rs55889738 ALMS1 E28_A29insEEEE 0.002 0.003 0 0 2 1 0 0 0 0 0 0 101591 chr22 20796597 20796597 G A rs145958380 KLHL22 Synonymous SNV R556R 0.003 0.01 0.003 7 4 4 0.018 1 0 1 0 0 9.454 101592 chr2 37306472 37306472 G A rs141996504 HEATR5B Synonymous SNV T43T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.88 101593 chr2 152348634 152348634 G A rs201825451 NEB Synonymous SNV D6489D 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.11 101594 chr2 70164486 70164486 C T rs778865384 MXD1 Synonymous SNV I136I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.39 101595 chr2 74479368 74479368 G A rs145502672 SLC4A5 Synonymous SNV S472S 0.014 0.023 0 1 17 9 0.003 0 0 0 0 0 9.704 101596 chr6 119669706 119669706 G A rs148806304 MAN1A1 Synonymous SNV D175D 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 1.772 101597 chr14 31787484 31787484 A C HEATR5A Synonymous SNV L1328L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.658 101598 chr2 36994281 36994281 A G rs928853423 VIT Nonsynonymous SNV T178A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.319 101599 chr14 35577431 35577431 G A PPP2R3C Nonsynonymous SNV T29I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 101600 chr2 84780064 84780066 AAG - rs143228855 DNAH6 E505del 0.006 0.016 0.01 5 7 6 0.013 3 0 0 0 0 101601 chr6 127911259 127911259 G T rs143015566 C6orf58 Synonymous SNV A234A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.983 101602 chr2 85576627 85576627 G A rs143670128 RETSAT Stop gain R293X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 37 101603 chr3 195245928 195245928 T C rs142993681 PPP1R2 Nonsynonymous SNV N127S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 24.9 101604 chr14 21821881 21821881 T C rs139833870 SUPT16H Synonymous SNV S967S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.513 101605 chr2 44570930 44570930 G T rs538321114 PREPL Nonsynonymous SNV S190R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.16 101606 chr2 74752242 74752242 G A rs200418000 DQX1 Nonsynonymous SNV R109W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 101607 chr22 24985853 24985853 G A rs150007743 LRRC75B Nonsynonymous SNV P81L 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 7.54 101608 chr2 86075284 86075284 C T rs144154879 ST3GAL5 Nonsynonymous SNV R98H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 34 101609 chr2 45807104 45807104 T C rs148597129 SRBD1 Nonsynonymous SNV R328G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 101610 chr2 86831751 86831751 G C rs140169526 RNF103 Nonsynonymous SNV L425V 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 18.48 101611 chr2 48132726 48132740 GGCTGCTGCTGGGGC - rs747252806 FBXO11 Q42_P46del 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 101612 chr14 23652038 23652038 G A rs149980964 SLC7A8 Nonsynonymous SNV S29F 0.02 0.013 0.014 5 23 5 0.013 4 1 0 0 0 Benign 25.1 101613 chr14 52508982 52508982 C T rs145391265 NID2 Nonsynonymous SNV A556T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.8 101614 chr3 197566250 197566250 G A rs144275631 LRCH3 Nonsynonymous SNV R437K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 101615 chr6 146755561 146755561 C T rs146753539 GRM1 Nonsynonymous SNV P1072S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 101616 chr2 99909078 99909078 T A rs149905462 LYG1 Synonymous SNV G23G 0.007 0.013 0.007 3 8 5 0.008 2 0 0 0 0 12.62 101617 chr2 172648088 172648088 C T rs142179562 SLC25A12 Synonymous SNV A486A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 17.54 101618 chr2 61622128 61622128 C G USP34 Nonsynonymous SNV V205L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 101619 chr2 175006704 175006704 G A rs145321003 OLA1 Nonsynonymous SNV T133M 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 24.9 101620 chr2 62104134 62104134 A G rs200806434 CCT4 Nonsynonymous SNV V203A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.39 101621 chr6 151055189 151055189 C G rs61738740 PLEKHG1 Synonymous SNV T183T 0.007 0 0.014 0 8 0 0 4 0 0 0 0 14.5 101622 chr3 10342987 10342987 G A rs139150328 SEC13 Synonymous SNV S295S 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 18.09 101623 chr3 32409408 32409408 C T rs138460448 CMTM8 Synonymous SNV A64A 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 14.9 101624 chr2 177033955 177033955 C T rs75250034 HOXD3 Nonsynonymous SNV T38M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 101625 chr14 60193992 60193992 C G rs74373925 RTN1 Synonymous SNV S470S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 101626 chr2 179399013 179399013 C T rs565347600 TTN Nonsynonymous SNV R25045Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.1 101627 chr14 61190679 61190679 G A rs758349639 SIX4 Synonymous SNV G38G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.402 101628 chr6 152668211 152668211 A G rs111449472 SYNE1 Nonsynonymous SNV C3950R 0.005 0.008 0.02 2 6 3 0.005 6 0 0 0 0 Benign/Likely benign 29.5 101629 chr6 152674455 152674455 A G rs138528119 SYNE1 Synonymous SNV A3717A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 9.111 101630 chr22 32831738 32831738 C G BPIFC Nonsynonymous SNV A293P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 101631 chr12 65445138 65445138 G A WIF1 Synonymous SNV Y377Y 0.001 0 0 8 1 0 0.021 0 0 0 0 0 1.542 101632 chr3 109031405 109031405 C T rs773072062 DPPA2 Synonymous SNV K56K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.779 101633 chr12 66641802 66641802 A G rs749925478 IRAK3 Nonsynonymous SNV I487V 0.001 0 0 9 1 0 0.023 0 0 0 0 0 0.001 101634 chr2 179462434 179462434 G A TTN Synonymous SNV T10060T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 101635 chr2 71189936 71189936 C T rs145735762 ATP6V1B1 Nonsynonymous SNV A272V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 101636 chr3 105378061 105378061 G C rs55821768 CBLB Nonsynonymous SNV A548G 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 not provided 25.3 101637 chr14 64735532 64735532 T C rs74808355 ESR2 Synonymous SNV E211E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 4.407 101638 chr2 74653646 74653646 C G RTKN Nonsynonymous SNV E472D 0.003 0 0 0 4 0 0 0 0 0 0 0 23 101639 chr2 74708361 74708361 C G CCDC142 Nonsynonymous SNV C416S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.032 101640 chr12 72018028 72018028 A G rs2304272 ZFC3H1 Synonymous SNV C1454C 0.026 0.031 0.014 9 30 12 0.023 4 0 0 0 0 6.163 101641 chr2 179616283 179616283 C T rs747054427 TTN Nonsynonymous SNV R3615Q 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 Uncertain significance 9.895 101642 chr3 111667907 111667907 G A PHLDB2 Synonymous SNV Q829Q 0 0.005 0 0 0 2 0 0 0 0 0 0 4.842 101643 chr3 111671426 111671426 G A rs35998759 PHLDB2 Nonsynonymous SNV R837K 0.011 0.005 0 5 13 2 0.013 0 0 0 0 0 23 101644 chr14 50788229 50788229 C T rs148236783 DMAC2L Synonymous SNV S8S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.96 101645 chr12 76740134 76740134 T C rs34737974 BBS10 Nonsynonymous SNV N544S 0.014 0.021 0.007 12 17 8 0.031 2 0 2 0 0 Benign/Likely benign 0.001 101646 chr2 179639162 179639162 C G rs373469418 TTN Nonsynonymous SNV E2231Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.45 101647 chr6 160201317 160201317 - A rs202229673 SNORA20 0 0 0.024 0 0 0 0 7 0 0 0 0 101648 chr2 74652240 74652240 T C rs139454931 WDR54 Nonsynonymous SNV I173T 0.006 0.013 0.003 5 7 5 0.013 1 0 0 0 0 21.6 101649 chr3 113128126 113128126 G A rs144907390 CFAP44 Synonymous SNV S239S 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 Benign 7.934 101650 chr3 42906629 42906629 T C rs149364873 ACKR2 Nonsynonymous SNV F212S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 19.78 101651 chr3 113212974 113212974 A G rs115549940 SPICE1 Nonsynonymous SNV Y103H 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 26.3 101652 chr2 185798445 185798445 G A rs115556450 ZNF804A Nonsynonymous SNV R124K 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 23.1 101653 chr2 8888086 8888086 G A rs199913532 KIDINS220 Synonymous SNV G1154G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.04 101654 chr2 185801629 185801629 T A rs748389317 ZNF804A Nonsynonymous SNV D502E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 101655 chr2 186659576 186659576 T C rs146197304 FSIP2 Synonymous SNV S2571S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 101656 chr14 59950783 59950783 C G rs764031959 L3HYPDH Nonsynonymous SNV E84D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.538 101657 chr22 44681419 44681439 GGGGCCCGCTGACCCGGCCGA - rs552627791 SHISAL1 R157_P163del 0.003 0.003 0.02 3 3 1 0.008 6 0 0 0 0 101658 chr3 121207956 121207956 T C POLQ Synonymous SNV A1274A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.364 101659 chr22 45127617 45127617 G A PRR5 Synonymous SNV K15K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 101660 chr3 122420378 122420378 C T rs371400883 PARP14 Nonsynonymous SNV P993S 0 0.005 0 4 0 2 0.01 0 0 0 0 1 0.059 101661 chr3 45942971 45942971 G A rs61751653 CCR9 Nonsynonymous SNV A219T 0.004 0 0 0 5 0 0 0 0 0 0 0 14.2 101662 chr3 45988634 45988634 G A CXCR6 Nonsynonymous SNV A221T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 101663 chr12 103306672 103306672 G T rs199565868 PAH Nonsynonymous SNV T22K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 16.56 101664 chr3 46414784 46414784 G T rs34418657 CCR5 Nonsynonymous SNV V131F 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 29.8 101665 chr3 100096710 100096710 C T rs755862037 TOMM70 Nonsynonymous SNV D311N 0.004 0 0 0 5 0 0 0 0 0 0 0 34 101666 chr22 46930794 46930794 G A rs28613988 CELSR1 Synonymous SNV Y758Y 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Benign 2.197 101667 chr3 123036923 123036923 C T rs761878371 ADCY5 Synonymous SNV A416A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.19 101668 chr2 193044347 193044347 T A rs55693184 TMEFF2 Nonsynonymous SNV L162F 0.016 0.021 0.017 7 19 8 0.018 5 0 0 0 0 3.813 101669 chr3 10953870 10953870 C T rs41308275 SLC6A11 Synonymous SNV N329N 0.004 0 0.017 2 5 0 0.005 5 0 0 0 0 12.3 101670 chr3 49831058 49831058 G A rs116781994 CDHR4 Synonymous SNV N527N 0.037 0.016 0.014 10 43 6 0.026 4 2 0 0 0 2.546 101671 chr14 93142887 93142887 G A rs56208303 RIN3 Synonymous SNV T726T 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 14.17 101672 chr6 26426520 26426520 A T rs76701156 BTN2A3P 0 0 0.014 0 0 0 0 4 0 0 1 0 5.22 101673 chr12 111088061 111088061 C T rs145225388 HVCN1 Nonsynonymous SNV R203H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 101674 chr6 27292928 27292928 T G rs16897710 VN1R10P 0 0 0.037 0 0 0 0 11 0 0 1 0 3.458 101675 chr3 50340301 50340303 GTT - HYAL1 N29del 0.001 0 0 0 1 0 0 0 0 0 0 0 101676 chr3 51418955 51418955 C T rs564564999 DOCK3 Nonsynonymous SNV R2020C 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 32 101677 chr6 28090931 28090931 A G rs6934769 ZSCAN16-AS1 0 0 0.041 0 0 0 0 12 0 0 3 0 4.334 101678 chr3 124909321 124909321 G A SLC12A8 Synonymous SNV F32F 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 9.443 101679 chr3 51929134 51929134 T A rs113909360 IQCF1 Synonymous SNV T130T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.49 101680 chr3 126071370 126071370 G A rs140642516 KLF15 Synonymous SNV D132D 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 0.105 101681 chr3 51990406 51990406 C G rs765310513 GPR62 Synonymous SNV A246A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.07 101682 chr3 52183854 52183854 C G rs112213336 POC1A Nonsynonymous SNV V85L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely pathogenic 26.8 101683 chr3 52405994 52405994 T G rs113617561 DNAH1 Synonymous SNV A2186A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 7.776 101684 chr14 95670254 95670254 A G rs990896620 CLMN Nonsynonymous SNV S478P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.45 101685 chr2 20478433 20478433 C A rs776890045 PUM2 Nonsynonymous SNV G567V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 29 101686 chr3 129324709 129324709 G A rs377056823 PLXND1 Synonymous SNV N258N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.429 101687 chr3 113379135 113379135 G A rs369130798 USF3 Nonsynonymous SNV P465L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 101688 chr3 129599205 129599205 A G rs61746150 TMCC1 Nonsynonymous SNV C51R 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 11.95 101689 chr3 53126487 53126487 G A rs113829901 RFT1 Synonymous SNV R452R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.868 101690 chr3 53156410 53156410 G A rs201794647 RFT1 Nonsynonymous SNV H146Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.92 101691 chr3 132061446 132061446 T C ACP3 Synonymous SNV L169L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 3.046 101692 chr14 77269797 77269797 A T ANGEL1 Nonsynonymous SNV L512Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 101693 chr6 35773490 35773490 C T rs149941106 LHFPL5 Nonsynonymous SNV H15Y 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 101694 chr2 108910148 108910148 A C rs529380809 SULT1C2 Nonsynonymous SNV K9Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.718 101695 chr2 108910789 108910789 G A rs747599431 SULT1C2 Nonsynonymous SNV A86T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.83 101696 chr12 123915154 123915154 G A RILPL2 Nonsynonymous SNV P131L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 25.1 101697 chr3 122437235 122437235 - A PARP14 Frameshift insertion N1416Efs*19 0.004 0 0 3 5 0 0.008 0 0 0 0 0 101698 chr14 78140565 78140565 A G rs146055224 ALKBH1 Nonsynonymous SNV F254L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 32 101699 chr6 36641733 36641733 T C rs73412212 PANDAR 0 0 0.02 0 0 0 0 6 0 0 0 0 10.65 101700 chr3 135870268 135870268 A C rs202110886 MSL2 Synonymous SNV S411S 0.004 0.01 0 0 5 4 0 0 0 0 0 0 0.006 101701 chr3 63600905 63600905 T C rs150251873 SYNPR Synonymous SNV F182F 0.005 0 0 0 6 0 0 0 0 0 0 0 0.859 101702 chr14 79175721 79175721 C T rs371323194 NRXN3 Synonymous SNV P88P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.36 101703 chr14 104027506 104027506 T C rs372359623 BAG5 Nonsynonymous SNV K40R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.468 101704 chr12 124333367 124333367 G A rs75173589 DNAH10 Nonsynonymous SNV V1896M 0.005 0.016 0.014 7 6 6 0.018 4 0 0 0 0 Benign 26.4 101705 chr6 36823711 36823711 T C rs553128312 PPIL1 Nonsynonymous SNV T127A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 101706 chr3 64008988 64008988 G A rs147103159 PSMD6 Synonymous SNV A36A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.53 101707 chr14 104482367 104482367 C T rs138536627 TDRD9 Nonsynonymous SNV P758L 0.006 0.003 0.01 5 7 1 0.013 3 0 0 0 0 17.2 101708 chr14 104618441 104618441 C T rs372492016 KIF26A Synonymous SNV D126D 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.46 101709 chr6 37342398 37342398 T C rs187615839 RNF8 Synonymous SNV H347H 0 0 0.007 0 0 0 0 2 0 0 0 0 5.331 101710 chr2 21366094 21366094 C T rs944084682 TDRD15 Nonsynonymous SNV P1919S 0.009 0 0 1 10 0 0.003 0 0 0 0 0 1.446 101711 chr6 37475189 37475189 C A rs9462316 LINC02520 0 0 0.017 0 0 0 0 5 0 0 2 0 2.868 101712 chr2 113333172 113333172 C T rs200995508 POLR1B Nonsynonymous SNV R881C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 34 101713 chr3 123665919 123665919 C T rs766062605 CCDC14 Nonsynonymous SNV R159Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 101714 chr3 142133075 142133075 T G rs146106309 XRN1 Nonsynonymous SNV K499Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.77 101715 chr2 116548725 116548725 G C rs369287161 DPP10 Nonsynonymous SNV E280Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.42 101716 chr6 41126619 41126619 G A rs138355759 TREM2 Nonsynonymous SNV T223I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign/Likely benign 0.032 101717 chr3 81692139 81692139 C T rs369574719 GBE1 Nonsynonymous SNV R262H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 101718 chr6 41487238 41487238 C T rs112546355 LINC01276 0 0 0.031 0 0 0 0 9 0 0 0 0 6.598 101719 chr3 143691673 143691673 C T rs6798911 DIPK2A Synonymous SNV L167L 0.025 0.021 0.031 5 29 8 0.013 9 0 0 0 0 10.17 101720 chr3 93769712 93769712 C G rs11554412 ARL13B Nonsynonymous SNV P289A 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Benign/Likely benign 19.7 101721 chr12 132281862 132281862 G A rs546768245 SFSWAP Nonsynonymous SNV V892I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.29 101722 chr12 132401560 132401560 C T rs151285621 ULK1 Nonsynonymous SNV P712L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 12.24 101723 chr3 9495424 9495424 G A rs201499833 SETD5 Nonsynonymous SNV R783H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 33 101724 chr2 121748118 121748118 G A rs138987487 GLI2 Nonsynonymous SNV R1401H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 26.6 101725 chr3 151046722 151046722 C T P2RY13 Nonsynonymous SNV R41Q 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 13.35 101726 chr3 97888438 97888438 G C rs72487748 OR5H15 Nonsynonymous SNV V299L 0.013 0.01 0 4 15 4 0.01 0 0 0 0 0 0.434 101727 chr3 129291563 129291563 G T PLXND1 Nonsynonymous SNV T989N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.125 101728 chr6 43306190 43306190 C T ZNF318 Nonsynonymous SNV S1849N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.28 101729 chr3 151166348 151166348 A G rs775552255 IGSF10 Nonsynonymous SNV M474T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.6 101730 chr6 44198312 44198312 G A rs8187640 SLC29A1 Synonymous SNV S225S 0.009 0.021 0.014 0 10 8 0 4 0 0 1 0 16.29 101731 chr3 130107567 130107567 T G rs144238271 COL6A5 Nonsynonymous SNV V669G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.08 101732 chr3 99998558 99998558 T C rs148149385 TBC1D23 Nonsynonymous SNV I40T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 18.43 101733 chr14 102507911 102507911 C G rs138428684 DYNC1H1 Nonsynonymous SNV T3981R 0.019 0.01 0.014 10 22 4 0.026 4 0 0 0 0 Benign/Likely benign 23 101734 chr14 102548458 102548458 T C rs11547524 HSP90AA1 Synonymous SNV K693K 0.019 0.01 0.014 10 22 4 0.026 4 0 0 0 0 Benign 10.06 101735 chr6 47626743 47626743 A C ADGRF2 Nonsynonymous SNV K41T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.179 101736 chr3 16312497 16312497 G A rs145294222 OXNAD1 Nonsynonymous SNV R31Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.4 101737 chr3 133474297 133474297 G T rs768066103 TF Nonsynonymous SNV C71F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 101738 chr3 133647207 133647207 C G rs77141175 C3orf36 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 2.097 101739 chr3 133647493 133647493 G C rs76311816 C3orf36 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.895 101740 chr2 141128779 141128779 C G rs76554185 LRP1B Nonsynonymous SNV G3615A 0.009 0.034 0.003 8 10 13 0.021 1 0 0 0 1 24.2 101741 chr6 49676892 49676892 C A rs148635588 CRISP2 Synonymous SNV V6V 0 0 0.01 0 0 0 0 3 0 0 0 0 14.74 101742 chr13 24304557 24304557 T G rs749918935 MIPEP Nonsynonymous SNV D691A 0.002 0 0 0 2 0 0 0 0 0 0 0 23 101743 chr2 224765989 224765989 G A rs142954829 WDFY1 Synonymous SNV T132T 0.007 0.003 0.003 7 8 1 0.018 1 0 0 0 0 9.295 101744 chr2 143712418 143712418 C T rs377046390 KYNU Nonsynonymous SNV T138I 0 0.003 0 0 0 1 0 0 0 0 0 0 29 101745 chr3 169574540 169574540 A G rs202206239 LRRC31 Nonsynonymous SNV I147T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.72 101746 chr4 1075216 1075216 G C rs149485506 RNF212 Nonsynonymous SNV A152G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.403 101747 chr4 108948850 108948850 C A rs140413151 HADH Nonsynonymous SNV P215T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 101748 chr3 135870600 135870600 T C MSL2 Nonsynonymous SNV K301E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 101749 chr14 105615389 105615389 C T rs141987287 JAG2 Nonsynonymous SNV M559I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.119 101750 chr15 42170634 42170634 G A rs200015124 SPTBN5 Nonsynonymous SNV R1126C 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 10.81 101751 chr3 140682015 140682015 G A rs367765049 SLC25A36 Nonsynonymous SNV D111N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 101752 chr2 160604568 160604568 A G rs75755472 MARCHF7 Nonsynonymous SNV N200S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.013 101753 chr3 183995716 183995716 A C rs1015686908 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV N132T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.1 101754 chr3 184024201 184024201 A G rs138025479 PSMD2 Nonsynonymous SNV K493R 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 22.6 101755 chr4 120427058 120427058 C T rs139979143 PDE5A Nonsynonymous SNV R740K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 16.22 101756 chr2 160901353 160901353 C T rs12327936 PLA2R1 Nonsynonymous SNV R142Q 0.008 0.01 0.017 6 9 4 0.015 5 1 0 0 0 14.75 101757 chr15 31330025 31330025 G C rs185129255 TRPM1 Synonymous SNV G837G 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Uncertain significance 5.914 101758 chr2 233712263 233712274 ACAGCAGCCACA - rs763368000 GIGYF2 P1219_Q1222del 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 101759 chr15 42982891 42982891 A C rs149176049 STARD9 Nonsynonymous SNV S3039R 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 20.9 101760 chr13 39266567 39266567 C G FREM2 Nonsynonymous SNV L1696V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 101761 chr6 74207487 74207487 A G rs147990749 MTO1 Synonymous SNV Q595Q 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 Benign 0.962 101762 chr3 14703094 14703094 G A rs142816619 CCDC174 Nonsynonymous SNV R122H 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Benign 23.1 101763 chr15 33831571 33831571 A G rs780128168 RYR3 Nonsynonymous SNV I152V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 15.31 101764 chr3 14803068 14803068 G A rs140063791 C3orf20 Nonsynonymous SNV R692Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 101765 chr13 41706639 41706639 G A rs139567653 KBTBD6 Synonymous SNV S3S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.6 101766 chr15 36872080 36872080 C T C15orf41 Stop gain Q7X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 37 101767 chr15 45394007 45394007 T C rs112428007 DUOX2 Synonymous SNV G945G 0.014 0.003 0.003 4 16 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.268 101768 chr3 192516931 192516931 A C rs35594076 MB21D2 Synonymous SNV S240S 0.008 0.01 0 0 9 4 0 0 0 0 0 0 0.003 101769 chr2 235962452 235962452 G A rs114947882 SH3BP4 Nonsynonymous SNV V962M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.7 101770 chr4 13600993 13600993 T G rs61995953 BOD1L1 Nonsynonymous SNV T2511P 0.016 0.01 0.014 1 19 4 0.003 4 0 0 0 0 6.379 101771 chr6 94120318 94120318 C T rs41273629 EPHA7 Nonsynonymous SNV A245T 0.005 0.003 0.027 0 6 1 0 8 0 0 0 0 17.04 101772 chr3 157318075 157318075 T C SLC66A1L Nonsynonymous SNV F103L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 101773 chr3 157823737 157823737 C T SHOX2 Nonsynonymous SNV R26Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 101774 chr15 41862899 41862899 T - rs779472118 TYRO3 0.001 0 0 0 1 0 0 0 0 0 0 0 101775 chr3 165548529 165548529 T C rs1799807 BCHE Nonsynonymous SNV D98G 0.015 0.013 0.024 7 18 5 0.018 7 0 0 0 0 Pathogenic/Likely pathogenic 23.7 101776 chr6 98472446 98472446 G A rs142927919 MIR2113 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 101777 chr13 51819481 51819481 T C rs1049223593 FAM124A Nonsynonymous SNV L45P 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 22.7 101778 chr13 51825813 51825813 G T rs776013786 FAM124A Nonsynonymous SNV V104L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 23.6 101779 chr15 42128675 42128675 C T rs958774068 JMJD7, JMJD7-PLA2G4B Synonymous SNV L210L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.17 101780 chr3 195800923 195800923 G A rs41301359 TFRC Synonymous SNV T23T 0.021 0.029 0.017 10 25 11 0.026 5 0 0 0 0 Benign 7.812 101781 chr2 177017346 177017346 C A rs200241025 HOXD4 Nonsynonymous SNV N148K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24 101782 chr3 164906236 164906236 C G SLITRK3 Nonsynonymous SNV E795Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 101783 chr4 152583832 152583832 C T FAM160A1 Synonymous SNV L1017L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.64 101784 chr3 17255827 17255827 C T rs139603342 TBC1D5 Nonsynonymous SNV V406I 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 12.35 101785 chr13 76416067 76416067 C T rs144089219 LMO7 Nonsynonymous SNV R1000C 0.008 0 0 0 9 0 0 0 0 0 0 0 17.69 101786 chr2 242033814 242033815 TT - MTERF4 K185Dfs*58 0 0 0 1 0 0 0.003 0 0 0 0 0 101787 chr3 170078827 170078827 A G rs3772174 SKIL Synonymous SNV P236P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.281 101788 chr2 17962530 17962530 A G rs367927356 GEN1 Nonsynonymous SNV Y684C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.07 101789 chr2 242684179 242684179 C T rs768774887 D2HGDH Nonsynonymous SNV T113M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 101790 chr3 179294476 179294476 A G ACTL6A Nonsynonymous SNV N214D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.9 101791 chr13 95363824 95363824 G C rs774516539 SOX21 Synonymous SNV A160A 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 1.514 101792 chr15 43021505 43021505 C T rs139809959 CDAN1 Synonymous SNV G821G 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Benign/Likely benign 18.83 101793 chr4 156281371 156281371 T C rs17032893 MAP9 Synonymous SNV L333L 0.015 0.021 0.01 5 18 8 0.013 3 0 0 0 0 0.747 101794 chr13 95815415 95815415 C T rs3765534 ABCC4 Nonsynonymous SNV E710K 0.009 0.003 0.01 1 11 1 0.003 3 0 0 0 0 0.007 101795 chr2 24413429 24413429 A G FAM228A Nonsynonymous SNV R184G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.38 101796 chr2 26505745 26505745 G A rs7572240 HADHB Synonymous SNV A307A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 17.14 101797 chr2 26533911 26533911 C T rs115902922 ADGRF3 Synonymous SNV L696L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.92 101798 chr13 101020733 101020733 G T rs61749895 PCCA Nonsynonymous SNV V477F 0.02 0.021 0.02 2 24 8 0.005 6 0 0 0 0 Conflicting interpretations of pathogenicity 0.177 101799 chr3 36896825 36896825 G A rs200296343 TRANK1 Nonsynonymous SNV T1419M 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 27.6 101800 chr3 184070588 184070588 C G rs2228292 CLCN2 Nonsynonymous SNV E674D 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 Benign 0.507 101801 chr3 184070901 184070901 C T rs111656822 CLCN2 Nonsynonymous SNV R644Q 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 Benign 17.13 101802 chr3 184071131 184071131 - CGG rs545787624 CLCN2 R602_Q603insR 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 101803 chr4 169632959 169632959 C T rs138283237 PALLD Nonsynonymous SNV R235C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 23 101804 chr2 27604482 27604482 T G rs144588722 PPM1G Nonsynonymous SNV K542T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.2 101805 chr15 67457647 67457647 C T rs145380987 SMAD3 Synonymous SNV L48L 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 Benign/Likely benign 17.25 101806 chr2 27604483 27604483 T C rs142505060 PPM1G Nonsynonymous SNV K542E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.5 101807 chr3 3887972 3887972 C T rs114810202 LRRN1 Synonymous SNV V549V 0.015 0.01 0.007 4 18 4 0.01 2 0 0 0 0 Benign 9.085 101808 chr13 112722816 112722821 GCCGCC - rs767740385 SOX1 A287_A288del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 101809 chr3 193032846 193032848 GAG - rs750585678 ATP13A5 L691del 0.003 0 0 0 4 0 0 0 0 0 0 0 101810 chr13 113824782 113824782 A G rs758510847 PROZ Nonsynonymous SNV E210G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 101811 chr2 31560572 31560572 G A rs45564939 XDH Nonsynonymous SNV R1296W 0.013 0.008 0.01 2 15 3 0.005 3 0 0 0 0 Benign 34 101812 chr13 114018214 114018214 T C rs373897364 GRTP1 Nonsynonymous SNV Y15C 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 101813 chr2 32517384 32517384 C G rs55684792 YIPF4 Nonsynonymous SNV F124L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 16.07 101814 chr13 114542707 114542707 C G rs139682172 GAS6 Nonsynonymous SNV D154H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.3 101815 chr3 193166028 193166028 T C rs139578706 ATP13A4 Nonsynonymous SNV I707V 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 15.26 101816 chr2 202545700 202545700 T C rs199986951 MPP4 Nonsynonymous SNV M264V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.379 101817 chr4 187075751 187075751 T C rs55769232 FAM149A Synonymous SNV D114D 0.018 0.016 0.027 9 21 6 0.023 8 0 0 0 0 0.161 101818 chr15 63961855 63961855 T C rs76114496 HERC1 Synonymous SNV T2696T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 7.343 101819 chr2 203379681 203379681 A C rs55722784 BMPR2 Synonymous SNV L200L 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 Benign 3.91 101820 chr2 36740738 36740738 C T rs200415445 CRIM1 Nonsynonymous SNV T607I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.5 101821 chr2 204082014 204082014 G A rs180757088 NBEAL1 Synonymous SNV S2674S 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 12.18 101822 chr3 430968 430968 C T rs115357599 CHL1 Synonymous SNV L761L 0.021 0.018 0.034 18 25 7 0.046 10 0 0 0 0 14.53 101823 chr3 44943395 44943403 ATCACCAGT - rs780363555 TGM4 I315_S317del 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 101824 chr15 65703680 65703680 A G rs140484259 IGDCC4 Synonymous SNV T33T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 101825 chr3 196045014 196045014 A T rs145146700 TCTEX1D2 Nonsynonymous SNV S4T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 101826 chr2 207988985 207988985 G A rs139952837 KLF7 Synonymous SNV L49L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 6.705 101827 chr3 44762995 44762995 A G ZNF502 Nonsynonymous SNV H229R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 101828 chr3 196857533 196857533 C T rs151290819 DLG1 Nonsynonymous SNV V261I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 101829 chr2 43520102 43520102 G A rs61756228 THADA Synonymous SNV A1563A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.824 101830 chr2 43725982 43725982 G A rs377547583 THADA Nonsynonymous SNV P1245L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 101831 chr3 197503819 197503819 T G FYTTD1 Nonsynonymous SNV N226K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 101832 chr2 43934591 43934591 G A rs141818164 PLEKHH2 Nonsynonymous SNV E625K 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 24.5 101833 chr3 46658807 46658807 C T rs559572312 FAM240A Synonymous SNV S50S 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 4.94 101834 chr3 31705713 31705713 C T rs369454150 OSBPL10 Nonsynonymous SNV R639Q 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 16.34 101835 chr7 128851498 128851498 A G rs755362549 SMO Nonsynonymous SNV N608S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 101836 chr7 130006956 130006956 A G rs79765028 LOC105375504 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 101837 chr3 37337707 37337707 G T rs184743517 GOLGA4 Nonsynonymous SNV V271L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.97 101838 chr14 23345432 23345432 G A rs767828778 LRP10 Synonymous SNV A425A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 10.37 101839 chr7 133314800 133314800 G T rs745335511 EXOC4 Nonsynonymous SNV G474C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 101840 chr2 219301267 219301267 G A rs142481514 VIL1 Nonsynonymous SNV R630H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 101841 chr15 77323545 77323545 C T rs574957138 PSTPIP1 Nonsynonymous SNV R223W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 101842 chr3 49548226 49548226 A G rs116717961 DAG1 Nonsynonymous SNV I87V 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 Benign/Likely benign 7.321 101843 chr3 38347680 38347680 C T rs112787944 SLC22A14 Nonsynonymous SNV L55F 0.016 0.008 0.01 4 19 3 0.01 3 0 0 0 0 16.04 101844 chr7 138417724 138417724 G A rs141568521 ATP6V0A4 Synonymous SNV D602D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.85 101845 chr7 138440515 138440515 A G rs77328827 ATP6V0A4 Synonymous SNV T245T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.004 101846 chr3 49936360 49936360 C T rs55898810 MST1R Synonymous SNV Q496Q 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign 10.03 101847 chr7 138968563 138968563 T C rs541647627 UBN2 Nonsynonymous SNV I971T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 101848 chr15 79183850 79183850 G A rs563869074 MORF4L1 Nonsynonymous SNV S37N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 101849 chr14 24772965 24772965 C A rs116960868 NOP9 Synonymous SNV R438R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 21.8 101850 chr3 39425226 39425226 A G rs61995897 SLC25A38 Nonsynonymous SNV N4S 0.004 0.008 0.007 4 5 3 0.01 2 0 0 0 0 Likely benign 12.18 101851 chr3 51429553 51429553 A G rs577320510 RBM15B Synonymous SNV P241P 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.14 101852 chr3 40231688 40231688 G A rs138572237 MYRIP Nonsynonymous SNV G280R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 3.199 101853 chr4 53611362 53611362 T C ERVMER34-1 Nonsynonymous SNV Q109R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 101854 chr3 51466720 51466720 G A rs201008185 DCAF1 Nonsynonymous SNV P422L 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 21.5 101855 chr15 79750410 79750410 A G MINAR1 Nonsynonymous SNV S641G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 101856 chr3 42264726 42264726 A G rs370814776 TRAK1 Nonsynonymous SNV M692V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.689 101857 chr15 92671603 92671603 G C rs368726551 SLCO3A1 Nonsynonymous SNV D466H 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 21 101858 chr15 83502016 83502016 G A rs762305261 WHAMM Nonsynonymous SNV G720S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 12.3 101859 chr3 42687436 42687436 G A rs781244897 NKTR Nonsynonymous SNV R1454Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 101860 chr7 142641752 142641752 G A rs190890637 KEL Nonsynonymous SNV T464I 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 101861 chr14 32621714 32621714 C T rs776001609 ARHGAP5 Synonymous SNV Y1387Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.05 101862 chr7 142658026 142658026 C T rs201110152 KEL Nonsynonymous SNV R130Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 101863 chr2 71797381 71797381 A C rs34061568 DYSF Nonsynonymous SNV K969T 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 101864 chr2 73226093 73226093 G A rs779259113 SFXN5 Nonsynonymous SNV A30V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.19 101865 chr3 52561325 52561325 G T NT5DC2 Synonymous SNV G368G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.66 101866 chr3 44843459 44843459 G T rs138043992 KIF15 Nonsynonymous SNV R501L 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 33 101867 chr7 143806924 143806924 C T rs2684427 OR2A2 Synonymous SNV N83N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.795 101868 chr7 143806927 143806927 A G rs2684428 OR2A2 Synonymous SNV L84L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 101869 chr7 143806934 143806934 C A rs61734798 OR2A2 Nonsynonymous SNV Q87K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 101870 chr3 53218894 53218894 C T PRKCD Synonymous SNV C283C 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 14.49 101871 chr2 220439894 220439894 G A rs140014760 INHA Synonymous SNV L249L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.309 101872 chr2 74763595 74763595 G C LOXL3 Nonsynonymous SNV R161G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.196 101873 chr3 53853041 53853041 C G rs35375185 CHDH Synonymous SNV T430T 0.032 0.039 0.007 21 38 15 0.054 2 0 0 0 1 13.11 101874 chr7 148979013 148979013 G A rs200388581 ZNF783 Nonsynonymous SNV R407H 0 0 0.007 2 0 0 0.005 2 0 0 0 0 22.7 101875 chr7 148979014 148979014 C A rs374330881 ZNF783 Synonymous SNV R407R 0 0 0.007 2 0 0 0.005 2 0 0 0 0 11.93 101876 chr2 227663108 227663108 C T rs142957124 IRS1 Nonsynonymous SNV R116H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 101877 chr3 46009684 46009684 G A rs3733101 FYCO1 Nonsynonymous SNV T381M 0.012 0.013 0 6 14 5 0.015 0 0 0 0 0 Benign 1.352 101878 chr2 85826259 85826259 G A rs776854668 TMEM150A Synonymous SNV S252S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 101879 chr4 69101916 69101916 C A rs749287736 TMPRSS11B Nonsynonymous SNV A65S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.767 101880 chr3 45751105 45751105 G C SACM1L Nonsynonymous SNV S89T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 101881 chr15 89385058 89385058 C T rs371404599 ACAN Synonymous SNV N239N 0.003 0 0 0 3 0 0 0 0 0 0 0 15.14 101882 chr2 86075172 86075172 G A rs150855708 ST3GAL5 Synonymous SNV Y30Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.181 101883 chr3 46497779 46497779 C A LTF 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 101884 chr16 707112 707112 C G rs45606031 WDR90 Synonymous SNV T788T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.974 101885 chr14 52981647 52981647 T G rs141268117 TXNDC16 Nonsynonymous SNV T181P 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 17 101886 chr3 47044497 47044497 G T NBEAL2 Nonsynonymous SNV R1803L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 101887 chr3 47044743 47044743 C T rs375399942 NBEAL2 Synonymous SNV P1854P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.29 101888 chr3 69928510 69928510 G A rs9849776 MITF Synonymous SNV T58T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 11.65 101889 chr2 99180040 99180040 G C rs184582905 INPP4A Synonymous SNV A606A 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Benign 9.477 101890 chr15 90931611 90931611 C T rs555474778 IQGAP1 Nonsynonymous SNV A13V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.84 101891 chr7 155755876 155755876 G A rs115886489 LOC389602 Nonsynonymous SNV R118H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 101892 chr4 77278678 77278678 C T rs78573099 CCDC158 Synonymous SNV E674E 0.02 0.01 0.017 13 24 4 0.033 5 0 0 0 0 9.552 101893 chr7 156742868 156742868 C T rs199647631 NOM1 Nonsynonymous SNV P146L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 101894 chr3 48697391 48697391 T C CELSR3 Nonsynonymous SNV I893V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 101895 chr14 60030564 60030564 T C rs560313647 CCDC175 Nonsynonymous SNV E245G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.26 101896 chr2 234725427 234725427 C T rs115274498 MROH2A Nonsynonymous SNV L953F 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 17.92 101897 chr3 49054228 49054228 A G DALRD3 Nonsynonymous SNV M327T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.915 101898 chr3 52404178 52404178 A G rs145673040 DNAH1 Nonsynonymous SNV N2064S 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign 19.73 101899 chr14 60921729 60921729 G C rs773002444 C14orf39 Stop gain S498X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 43 101900 chr14 61180556 61180556 C T rs1030551040 SIX4 Nonsynonymous SNV D639N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.9 101901 chr3 5244651 5244651 G A rs983310167 EDEM1 Nonsynonymous SNV V287M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 101902 chr3 49570553 49570553 C T DAG1 Nonsynonymous SNV T870I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 101903 chr15 99192746 99192749 TTTC - rs369532761 IRAIN 0.002 0 0.003 0 2 0 0 1 1 0 0 0 101904 chr15 99192755 99192759 TTTTT - IRAIN 0.002 0 0 0 2 0 0 0 1 0 0 0 101905 chr3 49828285 49828285 - TG rs779824210 CDHR4 Frameshift insertion G783Qfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 101906 chr16 1877271 1877271 G C rs779821974 FAHD1 Nonsynonymous SNV W14S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 101907 chr3 49946714 49946714 G A rs370069216 MON1A Nonsynonymous SNV T435M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 101908 chr3 98002445 98002445 C T rs72934924 OR5H2 Synonymous SNV G238G 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 12.29 101909 chr14 64574253 64574253 A G rs369330578 SYNE2 Synonymous SNV Q4179Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Uncertain significance 0.338 101910 chr3 50380033 50380033 C T rs587749007 ZMYND10 Nonsynonymous SNV R218H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.093 101911 chr3 98518377 98518377 C T rs16840208 DCBLD2 Nonsynonymous SNV D723N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.2 101912 chr14 64909093 64909093 T G rs374493540 MTHFD1 Synonymous SNV A703A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 7.222 101913 chr3 53263134 53263134 C T rs143812206 TKT Synonymous SNV Q428Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 13.01 101914 chr14 64989134 64989134 T C ZBTB1 Synonymous SNV S304S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.034 101915 chr4 83740354 83740354 G C rs748297732 SEC31A Nonsynonymous SNV T1026S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 101916 chr3 53883813 53883813 C T rs199882398 IL17RB Nonsynonymous SNV R73W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 101917 chr3 52422534 52422534 T G DNAH1 Nonsynonymous SNV M3091R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 101918 chr2 239185793 239185793 T C PER2 Nonsynonymous SNV N91S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.681 101919 chr7 22347981 22347981 A G rs78185169 RAPGEF5 Synonymous SNV P219P 0 0.003 0.01 0 0 1 0 3 0 0 0 0 8.115 101920 chr3 9988175 9988175 C T rs61740128 PRRT3 Synonymous SNV G894G 0.026 0.029 0.014 9 31 11 0.023 4 1 0 0 0 10.13 101921 chr7 22348119 22348119 C T rs111265651 RAPGEF5 Synonymous SNV Q173Q 0 0.003 0.01 0 0 1 0 3 0 0 0 0 13.33 101922 chr7 22767137 22767137 C T rs2069830 IL6 Nonsynonymous SNV P32S 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 5.772 101923 chr4 84376794 84376794 T C rs141700135 HELQ Nonsynonymous SNV N18S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 101924 chr3 56657573 56657581 TTTTCATCG - rs780396137 TASOR N1062_E1064del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 101925 chr7 23625817 23625817 G T rs115991129 CLK2P1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.182 101926 chr14 73407023 73407023 C T rs189217066 DCAF4 Nonsynonymous SNV R97W 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 35 101927 chr7 2579245 2579245 G C BRAT1 Nonsynonymous SNV C335W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 101928 chr2 242065984 242065984 G A PASK Synonymous SNV G782G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.664 101929 chr2 242066276 242066276 G C rs139743003 PASK Nonsynonymous SNV T685R 0 0.005 0 0 0 2 0 0 0 1 0 0 Likely benign 0.448 101930 chr4 103789885 103789885 T - rs536915148 UBE2D3 K6Sfs*49 0.003 0.005 0 0 3 2 0 0 0 0 0 0 101931 chr7 27282857 27282857 G A rs148774441 EVX1 Nonsynonymous SNV V70I 0 0 0.01 0 0 0 0 3 0 0 0 0 0.029 101932 chr7 2802341 2802341 G C GNA12 Nonsynonymous SNV A61G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.178 101933 chr7 28280505 28280505 C T rs10486580 JAZF1-AS1 0 0 0.041 0 0 0 0 12 0 0 1 0 2.026 101934 chr3 69169051 69169053 TCT - rs760413295 LMOD3 E151del 0.004 0 0 1 5 0 0.003 0 0 0 0 0 101935 chr7 29160571 29160571 T G CPVL Nonsynonymous SNV K36T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.301 101936 chr4 106924753 106924753 C A rs115149004 LOC101929577 0.009 0.013 0.014 2 11 5 0.005 4 0 0 0 0 1.542 101937 chr3 66431104 66431104 G A rs35938214 LRIG1 Synonymous SNV A984A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 9.002 101938 chr3 67058488 67058488 T C rs145930523 KBTBD8 Synonymous SNV R495R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 101939 chr7 30491184 30491184 G A rs140167031 NOD1 Nonsynonymous SNV R617C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 29.7 101940 chr7 30728895 30728895 G A rs61749076 CRHR2 Synonymous SNV A32A 0.003 0 0.017 0 3 0 0 5 0 0 1 0 Benign 6.033 101941 chr4 119736701 119736701 G A rs6844109 SEC24D Nonsynonymous SNV P193L 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Benign/Likely benign 2.725 101942 chr4 113351743 113351743 G A ALPK1 Nonsynonymous SNV G269E 0.002 0.008 0 0 2 3 0 0 0 0 0 0 24.8 101943 chr3 88040399 88040399 G A HTR1F Nonsynonymous SNV S167N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.882 101944 chr7 32620659 32620665 AAATTCC - rs139472456 DPY19L1P1 0 0 0.017 0 0 0 0 5 0 0 0 0 101945 chr4 114277171 114277171 G A rs142078935 ANK2 Nonsynonymous SNV R2466H 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Likely benign 17.62 101946 chr3 9833031 9833031 G A rs369437851 TADA3 Synonymous SNV I40I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.87 101947 chr3 93714763 93714763 C T rs146396078 ARL13B Synonymous SNV T35T 0.009 0.023 0.02 7 11 9 0.018 6 0 0 0 0 Benign/Likely benign 12.3 101948 chr2 27461496 27461496 C T rs61757649 CAD Synonymous SNV D1623D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.16 101949 chr4 123664906 123664906 A G rs139278612 BBS12 Nonsynonymous SNV Q620R 0.014 0.016 0.003 5 17 6 0.013 1 0 0 0 0 Uncertain significance 23.7 101950 chr2 27801281 27801281 T C rs199963644 C2orf16 Synonymous SNV V614V 0.002 0.008 0.007 3 2 3 0.008 2 0 0 0 0 5.294 101951 chr3 9944588 9944588 T C rs373804985 IL17RE Nonsynonymous SNV V31A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 101952 chr14 81528540 81528540 T C rs763539758 TSHR Synonymous SNV S73S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.069 101953 chr5 10227648 10227648 T C rs201325282 ATPSCKMT Nonsynonymous SNV I186V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.07 101954 chr4 119979047 119979047 C T rs147691876 SYNPO2 Synonymous SNV Y1217Y 0.003 0.01 0.007 6 3 4 0.015 2 0 0 0 0 Benign 3.998 101955 chr3 97852234 97852234 T A rs141861694 OR5H1 Nonsynonymous SNV D231E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 101956 chr3 97887844 97887844 T - rs377659479 OR5H15 S103Pfs*6 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 101957 chr3 9959671 9959671 G A rs142241185 IL17RC Synonymous SNV T64T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.184 101958 chr7 4213965 4213965 A G rs143929081 SDK1 Nonsynonymous SNV I125V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 101959 chr5 11082818 11082818 C T rs369082429 CTNND2 Synonymous SNV K589K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 15.4 101960 chr4 100479217 100479217 T C rs373845087 TRMT10A Nonsynonymous SNV M113V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 101961 chr16 15880488 15880488 G A rs557865832 MYH11 Nonsynonymous SNV T211M 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 22.4 101962 chr14 90755225 90755225 C G rs140496409 NRDE2 Nonsynonymous SNV V832L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 101963 chr4 100571999 100571999 G A rs772416889 C4orf54 Synonymous SNV S1269S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.717 101964 chr4 13604267 13604267 C T rs149862914 BOD1L1 Synonymous SNV E1419E 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 11.37 101965 chr7 44185707 44185707 C A rs570992081 GCK Stop gain G7X 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 0 7.793 101966 chr4 101982305 101982305 C G rs78927351 PPP3CA Synonymous SNV L323L 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 12.08 101967 chr7 4800907 4800907 G A rs750176203 FOXK1 Nonsynonymous SNV G637S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.635 101968 chr4 108935600 108935600 T G rs61735992 HADH Nonsynonymous SNV F92C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 101969 chr4 145636524 145636524 T G rs201303626 HHIP Nonsynonymous SNV S540R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 11.18 101970 chr14 96772058 96772058 G T rs138090571 ATG2B Nonsynonymous SNV T1534K 0.006 0 0 4 7 0 0.01 0 0 0 0 0 9.998 101971 chr5 127623040 127623040 C T rs377742525 FBN2 Synonymous SNV P2280P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 13.44 101972 chr4 110682721 110682721 T C rs756680624 CFI Nonsynonymous SNV M204V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 101973 chr7 5402432 5402432 C T rs202192065 TNRC18 Nonsynonymous SNV R1415Q 0.012 0.008 0.014 5 14 3 0.013 4 1 0 0 0 Benign 24.2 101974 chr5 133481979 133481979 G A rs370513465 TCF7 Synonymous SNV P240P 0.005 0 0 0 6 0 0 0 0 0 0 0 12.3 101975 chr7 56151905 56151905 T C PHKG1 Nonsynonymous SNV Q117R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 101976 chr16 28997868 28997868 T C rs140327086 LAT Synonymous SNV S106S 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 1.762 101977 chr2 47630458 47630458 A G rs17217723 MSH2 Nonsynonymous SNV Y43C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 101978 chr4 162577597 162577597 T G rs4691015 FSTL5 Synonymous SNV A258A 0.007 0.01 0.01 4 8 4 0.01 3 0 0 0 0 4.828 101979 chr4 160275199 160275199 - TAAGTTTTAAAATTGGGGGAC RAPGEF2 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 101980 chr4 169183841 169183841 C T rs751465372 DDX60 Nonsynonymous SNV R1046Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 14.32 101981 chr16 9858173 9858173 G T rs61758995 GRIN2A Nonsynonymous SNV N1076K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 23 101982 chr7 73011987 73011987 G T rs111339223 MLXIPL Nonsynonymous SNV F376L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 24.6 101983 chr4 140624656 140624656 T C rs116372322 MGST2 Nonsynonymous SNV Y25H 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 Benign 27.3 101984 chr2 58386928 58386928 - TAAT rs759217526 FANCL Frameshift insertion T372Nfs*13 0.002 0.003 0 0 2 1 0 0 0 0 0 0 101985 chr4 141400672 141400672 A T MGAT4D Nonsynonymous SNV D121E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.05 101986 chr4 1346960 1346960 C T rs115978884 UVSSA Synonymous SNV C231C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.172 101987 chr4 149356352 149356352 T C rs5527 NR3C2 Nonsynonymous SNV N554S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 0.271 101988 chr14 105421900 105421900 G C rs143110230 AHNAK2 Nonsynonymous SNV T29R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Likely benign 23.9 101989 chr16 14755826 14755826 C T BFAR Synonymous SNV Y162Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.563 101990 chr3 141497368 141497368 G A rs34429284 GRK7 Nonsynonymous SNV R81H 0.003 0.005 0.01 3 3 2 0.008 3 0 0 0 0 11.8 101991 chr5 140186881 140186881 G A rs528454810 PCDHA4 Nonsynonymous SNV E37K 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 31 101992 chr4 1397406 1397406 C G rs568079039 NKX1-1 Nonsynonymous SNV G221R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 101993 chr7 80430097 80430097 A G rs140244551 SEMA3C Nonsynonymous SNV V339A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 27.2 101994 chr7 8126047 8126047 A G GLCCI1 Nonsynonymous SNV D508G 0 0 0.007 0 0 0 0 2 0 0 0 0 14.41 101995 chr4 140811063 140811063 - TGCTGC MAML3 Q510_H511insQQ 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 101996 chr7 82583255 82583255 G A rs746500435 PCLO Synonymous SNV T2338T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 101997 chr4 141789474 141789474 C T RNF150 Nonsynonymous SNV V420I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 101998 chr4 142053778 142053778 C T rs369302976 RNF150 Nonsynonymous SNV G62D 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 24 101999 chr3 14724565 14724565 G A rs73022161 C3orf20 Synonymous SNV K115K 0.009 0.01 0.003 8 11 4 0.021 1 0 1 0 0 7.155 102000 chr3 148804157 148804157 G A rs373244543 HLTF-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.599 102001 chr4 185634143 185634143 A G rs139242203 CENPU Nonsynonymous SNV S215P 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 6.156 102002 chr15 31515866 31515866 C G rs1004160481 LOC283710 Nonsynonymous SNV G53R 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 12.55 102003 chr7 89939394 89939394 G A rs201625526 CFAP69 Nonsynonymous SNV G824R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.041 102004 chr5 140783281 140783281 C T rs768985461 PCDHGA9 Synonymous SNV N254N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.162 102005 chr7 92355033 92355033 T A rs34257565 CDK6 Synonymous SNV P148P 0.008 0.005 0.02 1 9 2 0.003 6 0 0 0 0 Benign 7.771 102006 chr7 93519583 93519583 C T rs765431049 TFPI2 Nonsynonymous SNV R35Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 102007 chr4 187077234 187077234 G A rs149745987 FAM149A Nonsynonymous SNV R155H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.014 102008 chr2 79253911 79253911 C A rs572337430 REG3G Nonsynonymous SNV P50H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.4 102009 chr3 15762552 15762552 A G rs201631150 ANKRD28 Nonsynonymous SNV I105T 0.004 0 0 5 5 0 0.013 0 0 0 0 0 24.1 102010 chr4 187113021 187113021 T C rs200010109 CYP4V2 Nonsynonymous SNV L15P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 18.27 102011 chr7 99017729 99017729 C T rs377663602 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R655Q 0 0 0.007 0 0 0 0 2 0 0 0 0 35 102012 chr2 85553827 85553827 T C rs557535522 TGOLN2 Nonsynonymous SNV K343R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.3 102013 chr4 187534286 187534286 A C rs188733415 FAT1 Nonsynonymous SNV V3147G 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Likely benign 18.48 102014 chr4 187629137 187629137 A G rs4862726 FAT1 Synonymous SNV F615F 0.014 0.016 0.01 3 16 6 0.008 3 0 0 0 0 0.011 102015 chr8 101540180 101540180 A G ANKRD46 Synonymous SNV N121N 0 0 0.007 0 0 0 0 2 0 0 0 0 8.642 102016 chr8 103663814 103663814 G A rs4734653 KLF10 Nonsynonymous SNV S238F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.5 102017 chr3 167278013 167278013 T C rs114426783 WDR49 Nonsynonymous SNV I164V 0.006 0 0 2 7 0 0.005 0 0 0 0 0 10.33 102018 chr4 166220780 166220780 G A rs770856919 KLHL2 Nonsynonymous SNV R132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 102019 chr5 146722596 146722596 T C rs376893083 STK32A Synonymous SNV L154L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.74 102020 chr4 24541828 24541828 T C rs113961055 DHX15 Synonymous SNV A563A 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 3.494 102021 chr4 25019654 25019654 C T LGI2 Synonymous SNV K204K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 14.83 102022 chr4 17838853 17838853 C T rs137963914 NCAPG Synonymous SNV S727S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.25 102023 chr4 2757915 2757915 C G rs200885945 TNIP2 Synonymous SNV L34L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.68 102024 chr4 2939828 2939828 C T rs573384457 NOP14-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.816 102025 chr4 170638977 170638977 T C rs143502018 CLCN3 Synonymous SNV L801L 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 0.482 102026 chr4 184192244 184192244 G A WWC2 Synonymous SNV Q804Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.635 102027 chr4 184202028 184202028 C A rs186032528 WWC2 Nonsynonymous SNV P888T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.082 102028 chr8 10583698 10583698 C T rs111519861 SOX7 Synonymous SNV G239G 0.01 0.003 0.01 2 12 1 0.005 3 0 0 0 0 Benign 1.367 102029 chr2 97526990 97526990 G A rs373875815 SEMA4C Synonymous SNV Y625Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.063 102030 chr3 179371158 179371158 T C USP13 Nonsynonymous SNV C49R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 102031 chr4 3446079 3446079 G T rs41264743 HGFAC Nonsynonymous SNV G214C 0.011 0.01 0.017 1 13 4 0.003 5 0 0 0 0 24.2 102032 chr16 50256234 50256234 A G rs758833370 TENT4B Synonymous SNV P352P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.98 102033 chr16 50733699 50733699 C T rs149390911 NOD2 Nonsynonymous SNV P98L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 14.92 102034 chr4 174450345 174450365 GGCGGCGGCGGCGGCAGCTGC - rs745549935 HAND2 A26_A32del 0.001 0 0 0 1 0 0 0 0 0 0 0 102035 chr3 182751841 182751841 C T rs376408733 MCCC1 Nonsynonymous SNV S423N 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 102036 chr2 98340655 98340655 C T rs138447206 ZAP70 Synonymous SNV H52H 0.001 0.005 0 6 1 2 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.36 102037 chr15 42977675 42977675 - ACCCCATT rs775583719 STARD9 Frameshift insertion E1304Pfs*10 0.006 0.01 0.017 1 7 4 0.003 5 0 0 0 0 102038 chr15 42977676 42977676 - TGAGCTCCAA rs760755023 STARD9 Stop gain P1301* 0.006 0.01 0.014 1 7 4 0.003 4 0 0 0 0 102039 chr8 119936934 119936934 A T rs11573942 TNFRSF11B Synonymous SNV L295L 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Benign/Likely benign 0.003 102040 chr15 43527819 43527819 T C rs35985214 TGM5 Nonsynonymous SNV Q439R 0.016 0.016 0.017 9 19 6 0.023 5 0 0 0 0 Benign 3.381 102041 chr15 43733730 43733730 A G rs45482998 TP53BP1 Nonsynonymous SNV V1031A 0.014 0.013 0.017 6 17 5 0.015 5 1 0 0 0 23.9 102042 chr16 57787027 57787027 C T rs12922275 KATNB1 Synonymous SNV Y298Y 0.04 0.039 0.078 17 47 15 0.044 23 1 0 0 0 13.51 102043 chr16 57795343 57795343 G A rs12920931 KIFC3 Synonymous SNV S516S 0.023 0.023 0.024 6 27 9 0.015 7 1 0 0 0 14.71 102044 chr8 123964023 123964023 C T rs145165454 ZHX2 Synonymous SNV N91N 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 8.629 102045 chr15 44949329 44949329 T A rs75309308 SPG11 Nonsynonymous SNV N278I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Uncertain significance 17.32 102046 chr4 2209880 2209880 C A rs145476355 POLN Nonsynonymous SNV G183V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 4.931 102047 chr4 436470 436470 G A rs782540933 ZNF721 Nonsynonymous SNV R596W 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 13.6 102048 chr15 45694995 45694995 C T rs373155421 SPATA5L1 Nonsynonymous SNV P123L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.066 102049 chr4 24854721 24854721 C G rs201561233 CCDC149 Nonsynonymous SNV R115S 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 25.3 102050 chr4 187113107 187113107 T A rs119103282 CYP4V2 Nonsynonymous SNV W44R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.43 102051 chr16 82069150 82069150 C T rs532328439 HSD17B2 Synonymous SNV L41L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.068 102052 chr3 189607220 189607220 C T rs758093495 TP63 Synonymous SNV S354S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Likely benign 13.41 102053 chr15 49288673 49288673 C T rs147984813 SECISBP2L Synonymous SNV K793K 0.004 0 0 0 5 0 0 0 0 0 0 0 14.28 102054 chr3 190158154 190158154 C T rs146464358 TMEM207 Synonymous SNV V61V 0.007 0 0.017 6 8 0 0.015 5 0 0 0 0 9.159 102055 chr5 156887248 156887248 G A NIPAL4 Nonsynonymous SNV D36N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 102056 chr4 3076633 3076633 G A rs745920924 HTT Synonymous SNV Q27Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.388 102057 chr4 187629727 187629727 G C rs375942121 FAT1 Nonsynonymous SNV L419V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 102058 chr4 3076638 3076638 A C HTT Nonsynonymous SNV Q29P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.742 102059 chr4 3076641 3076642 AG - rs754013273 HTT Q30Pfs*52 0.003 0 0.003 0 4 0 0 1 0 0 0 0 102060 chr4 3076645 3076666 GCAGCAGCAGCAGCAGCAACAG - rs757020569 HTT Q31Hfs*63 0.003 0 0.003 0 4 0 0 1 0 0 0 0 102061 chr15 52498121 52498121 A G MYO5C Synonymous SNV L1477L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.59 102062 chr16 70503075 70503075 T A rs78440411 FCSK Synonymous SNV I268I 0.011 0.008 0.01 2 13 3 0.005 3 1 0 0 0 12.94 102063 chr4 57215969 57215969 C T rs61978622 AASDH Nonsynonymous SNV D165N 0.018 0.021 0.02 6 21 8 0.015 6 1 0 0 0 9.948 102064 chr5 167674845 167674845 C T rs367824725 TENM2 Nonsynonymous SNV R2062C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 102065 chr4 24577973 24577973 G A DHX15 Nonsynonymous SNV R134C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 102066 chr3 195486123 195486123 G A rs149016812 MUC4 Nonsynonymous SNV P666L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.1 102067 chr4 24578019 24578019 G A rs150191377 DHX15 Synonymous SNV F118F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.33 102068 chr4 36231081 36231081 C T rs147255071 ARAP2 Nonsynonymous SNV D10N 0.009 0.018 0.01 8 11 7 0.021 3 0 0 0 0 26 102069 chr16 85689516 85689516 G A rs748655432 GSE1 Nonsynonymous SNV A224T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.6 102070 chr4 54218869 54218869 - A SCFD2 Frameshift insertion G302Rfs*5 0.005 0.008 0 0 6 3 0 0 0 0 0 0 102071 chr3 195489065 195489065 G T rs141696215 MUC4 Nonsynonymous SNV A515D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 102072 chr3 113890726 113890726 C T rs77498054 DRD3 Synonymous SNV A38A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.83 102073 chr4 26407878 26407878 T C rs3113014 RBPJ Synonymous SNV Y25Y 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 1.246 102074 chr3 195516364 195516364 G A rs200688313 MUC4 Nonsynonymous SNV A696V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.639 102075 chr5 168114109 168114109 G C rs755876201 SLIT3 Synonymous SNV V1070V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.215 102076 chr3 195594391 195594391 C T rs373899133 TNK2 Synonymous SNV P943P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.658 102077 chr4 3162058 3162058 G A rs199529839 HTT Nonsynonymous SNV R1268H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 102078 chr4 6303974 6303974 C T rs35932623 WFS1 Nonsynonymous SNV R818C 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 102079 chr3 119456262 119456262 G A rs59489029 MAATS1 Nonsynonymous SNV R339H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 102080 chr3 119642241 119642241 C T rs17183890 GSK3B Synonymous SNV T152T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.94 102081 chr3 119886265 119886265 C T rs114542754 GPR156 Nonsynonymous SNV G683R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 5.946 102082 chr3 119886266 119886266 C G rs115973935 GPR156 Nonsynonymous SNV E682D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.04 102083 chr4 3446057 3446057 C A rs35018889 HGFAC Synonymous SNV T206T 0.007 0.005 0.014 0 8 2 0 4 0 0 0 0 13.24 102084 chr4 36168603 36168603 G T rs772066488 ARAP2 Synonymous SNV R642R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 102085 chr8 144163954 144163954 C T rs148986903 LY6L Synonymous SNV R101R 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 4.985 102086 chr5 176070122 176070122 G A rs201972753 EIF4E1B Nonsynonymous SNV E19K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.227 102087 chr4 68606400 68606400 C T rs104893837 GNRHR Nonsynonymous SNV R262Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Pathogenic 35 102088 chr3 20027574 20027574 A G rs143704277 PP2D1 Synonymous SNV N397N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.292 102089 chr3 121980958 121980958 A T CASR Nonsynonymous SNV H359L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.47 102090 chr5 176910868 176910868 C T rs927021182 PDLIM7 Synonymous SNV A429A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.606 102091 chr4 4322444 4322444 A G rs758449141 ZBTB49 Nonsynonymous SNV I567V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 102092 chr3 122641088 122641088 G C rs148490504 SEMA5B Synonymous SNV T435T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 102093 chr4 39929605 39929605 T C rs755207408 PDS5A Synonymous SNV P106P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.74 102094 chr16 89346163 89346163 G A rs76793093 ANKRD11 Nonsynonymous SNV P2263S 0.004 0.003 0.02 3 5 1 0.008 6 0 0 0 0 Benign 0.003 102095 chr16 89349128 89349128 G A rs61741725 ANKRD11 Synonymous SNV A1274A 0.004 0.003 0.02 3 5 1 0.008 6 0 0 0 0 Benign 5.338 102096 chr16 89349377 89349377 G C rs62000377 ANKRD11 Synonymous SNV A1191A 0.004 0.003 0.02 3 5 1 0.008 6 0 0 0 0 Benign 2.107 102097 chr4 48381759 48381759 A G rs201587872 SLAIN2 Nonsynonymous SNV I252M 0.006 0 0 1 7 0 0.003 0 0 0 0 0 21.2 102098 chr16 84050212 84050212 C T rs143797848 SLC38A8 Synonymous SNV T358T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 10.87 102099 chr4 72432790 72432790 G T rs200777620 SLC4A4 Nonsynonymous SNV G1057C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Uncertain significance 20.5 102100 chr8 144892664 144892664 G A rs779914001 SCRIB Synonymous SNV P505P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.323 102101 chr15 68119882 68119882 A G rs890920754 SKOR1 Synonymous SNV P572P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 1.787 102102 chr15 68378931 68378931 A C rs199719363 PIAS1 Synonymous SNV A104A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 3.247 102103 chr16 84213254 84213254 C T rs4150173 TAF1C Nonsynonymous SNV G303S 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 17.7 102104 chr16 84215212 84215212 C T TAF1C Stop gain W32X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 40 102105 chr4 72316956 72316956 C G rs137982286 SLC4A4 Synonymous SNV P376P 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 102106 chr3 124951596 124951596 G A rs145231474 ZNF148 Synonymous SNV S658S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Likely benign 4.81 102107 chr4 75937723 75937723 C T PARM1 Synonymous SNV S44S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 8.631 102108 chr5 179545808 179545808 C T rs149114740 RASGEF1C Synonymous SNV T322T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.2 102109 chr4 77065546 77065546 T C rs201382139 NUP54 Nonsynonymous SNV T50A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.724 102110 chr16 84256225 84256225 G A rs143847774 KCNG4 Synonymous SNV S386S 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Benign 5.183 102111 chr4 74702809 74702809 - T rs564244632 CXCL6 Frameshift insertion V81Gfs*44 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 102112 chr4 5682993 5682993 G A rs144730069 EVC2 Synonymous SNV N208N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 3.976 102113 chr5 180486242 180486242 G A BTNL9 Nonsynonymous SNV V330M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 102114 chr4 77676309 77676309 A C rs138661793 SHROOM3 Nonsynonymous SNV Q1558P 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Likely benign 0.002 102115 chr4 48853868 48853868 A G rs138743208 OCIAD1 Synonymous SNV Q141Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.681 102116 chr8 145113575 145113575 G A OPLAH Stop gain Q203X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 102117 chr3 39425227 39425227 C T rs142420345 SLC25A38 Synonymous SNV N4N 0.007 0.016 0.014 3 8 6 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 7.892 102118 chr4 77231101 77231101 T C rs141998448 STBD1 Nonsynonymous SNV L342P 0.003 0.01 0 0 3 4 0 0 0 0 0 0 24.3 102119 chr5 31313520 31313520 C G rs757216983 CDH6 Nonsynonymous SNV T450R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 102120 chr8 145171032 145171032 G A rs552564150 WDR97 Nonsynonymous SNV D1569N 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.24 102121 chr3 128651659 128651659 A G KIAA1257 Nonsynonymous SNV Y588H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.237 102122 chr16 87446522 87446522 A T rs759717998 ZCCHC14 Nonsynonymous SNV F602Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 102123 chr8 145641367 145641367 C T rs372812102 SLC39A4 Nonsynonymous SNV V76I 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 9.935 102124 chr4 5743520 5743520 G A rs41269555 EVC Synonymous SNV K260K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 13.05 102125 chr15 77473109 77473109 T C rs377482183 PEAK1 Nonsynonymous SNV Y387C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 102126 chr15 78390288 78390288 G A rs757087769 SH2D7 Nonsynonymous SNV R95Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 102127 chr17 2929668 2929668 C T rs139716727 RAP1GAP2 Synonymous SNV N615N 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 12.3 102128 chr8 146156612 146156612 C T rs141655692 ZNF16 Nonsynonymous SNV E521K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 102129 chr3 44684045 44684045 C T rs146540372 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV R262C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 102130 chr4 84232010 84232010 A C rs61755719 HPSE Nonsynonymous SNV F178C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.19 102131 chr4 663857 663857 C T rs61733857 PDE6B Nonsynonymous SNV R436W 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.94 102132 chr8 1749333 1749333 C T rs75404472 MIR3674 0 0 0.01 0 0 0 0 3 0 0 0 0 5.064 102133 chr8 17503612 17503612 C G rs61733704 MTUS1 Nonsynonymous SNV R1157P 0.026 0.023 0.044 12 30 9 0.031 13 0 0 0 0 2.77 102134 chr5 40843298 40843298 G A rs145551245 CARD6 Nonsynonymous SNV A110T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.275 102135 chr4 86916248 86916248 A G rs753854952 ARHGAP24 Nonsynonymous SNV T288A 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 8.24 102136 chr4 87769946 87769946 C G rs755930779 SLC10A6 Nonsynonymous SNV G108A 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 26.7 102137 chr16 89789003 89789003 C T ZNF276 Synonymous SNV S90S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.872 102138 chr3 47164977 47164977 A G rs776053769 SETD2 Synonymous SNV L339L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.764 102139 chr16 89970566 89970566 C T rs73276578 TCF25 Synonymous SNV D474D 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 11.16 102140 chr4 77230620 77230620 A T rs146935160 STBD1 Stop gain R182X 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 35 102141 chr8 22460746 22460746 G A rs540237954 C8orf58 Nonsynonymous SNV R342H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 102142 chr4 77230621 77230621 G A rs147970715 STBD1 Nonsynonymous SNV R182K 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 1.13 102143 chr4 76452302 76452302 T A rs150566447 THAP6 Nonsynonymous SNV L141M 0.003 0.003 0.007 3 4 1 0.008 2 0 0 1 0 22.2 102144 chr4 77290760 77290760 C T rs192256018 CCDC158 Nonsynonymous SNV R389K 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 11.71 102145 chr4 77057432 77057432 T C NUP54 Synonymous SNV Q95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.466 102146 chr3 148596461 148596461 G T CPA3 Nonsynonymous SNV D134Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 102147 chr5 55075860 55075860 G A rs147190735 DDX4 Nonsynonymous SNV G135S 0.002 0 0.01 0 2 0 0 3 0 0 0 0 23 102148 chr8 23225582 23225582 C T rs563176482 LOXL2 Nonsynonymous SNV V95I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 102149 chr3 151163352 151163352 T C rs201715709 IGSF10 Nonsynonymous SNV M1473V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.001 102150 chr3 51430330 51430330 G A rs79092917 RBM15B Synonymous SNV Q500Q 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 1.035 102151 chr5 65474560 65474560 A G rs140648529 SREK1 Nonsynonymous SNV I532V 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 13.19 102152 chr5 68661406 68661406 A G rs576444241 TAF9 Synonymous SNV D53D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.452 102153 chr8 29033654 29033654 A G rs148531473 KIF13B Synonymous SNV D292D 0.004 0 0.017 0 5 0 0 5 0 0 0 0 6.089 102154 chr8 2944629 2944629 T C rs373936423 CSMD1 Synonymous SNV P2488P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.034 102155 chr5 112458515 112458515 T A rs200054847 MCC Nonsynonymous SNV D108V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 32 102156 chr17 7417121 7417121 C T rs1058387 POLR2A Synonymous SNV Y1846Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.475 102157 chr8 3047488 3047488 G T rs202157459 CSMD1 Nonsynonymous SNV Q1782K 0.003 0.013 0.024 3 4 5 0.008 7 0 0 0 0 Likely benign 11.86 102158 chr5 115335543 115335543 G A rs148975146 LVRN Nonsynonymous SNV E487K 0.006 0.01 0.003 4 7 4 0.01 1 1 0 0 0 18.42 102159 chr3 52557503 52557503 G A rs200488238 STAB1 Nonsynonymous SNV A2401T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 102160 chr8 3165276 3165276 C T rs191537593 CSMD1 Synonymous SNV P1297P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.74 102161 chr4 86852097 86852097 G T rs61758879 ARHGAP24 Nonsynonymous SNV R5L 0.014 0.01 0.003 4 16 4 0.01 1 1 0 0 0 11.09 102162 chr4 88412819 88412819 T A rs141650619 SPARCL1 Synonymous SNV S289S 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 1.202 102163 chr4 85674946 85674946 G A rs199570433 WDFY3 Synonymous SNV N1881N 0.005 0.008 0 0 6 3 0 0 0 0 0 0 5.589 102164 chr17 3513856 3513856 A G rs200377484 SHPK X479Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.542 102165 chr4 88533537 88533537 G A DSPP Nonsynonymous SNV G67R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.15 102166 chr8 38275808 38275808 C A rs200776757 FGFR1 Nonsynonymous SNV M367I 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 102167 chr3 52867434 52867434 G A rs199676398 MUSTN1, STIMATE-MUSTN1 Nonsynonymous SNV S52L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 102168 chr5 74054684 74054684 T A GFM2 Nonsynonymous SNV R98S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 102169 chr4 8607794 8607794 A G rs139418095 CPZ Nonsynonymous SNV Q252R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 102170 chr3 53781440 53781440 G A rs36061665 CACNA1D Synonymous SNV A1093A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 11.28 102171 chr4 90169846 90169846 A G rs34922540 GPRIN3 Synonymous SNV S472S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.029 102172 chr8 42038175 42038175 C T rs780545069 PLAT Synonymous SNV Q217Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.409 102173 chr8 42226805 42226805 C G rs3136797 POLB Nonsynonymous SNV P242R 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 22.5 102174 chr4 90169946 90169946 C T rs74653642 GPRIN3 Nonsynonymous SNV R439K 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.007 102175 chr4 90170097 90170097 T G rs76496030 GPRIN3 Nonsynonymous SNV M389L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 8.154 102176 chr15 100252744 100252744 C A rs778791945 MEF2A Nonsynonymous SNV P353Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 102177 chr8 52320858 52320858 G A rs201570845 PXDNL Nonsynonymous SNV A1109V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 102178 chr5 134332143 134332143 G A rs114447625 CATSPER3 Nonsynonymous SNV A145T 0.006 0.021 0.003 2 7 8 0.005 1 0 0 0 0 12.9 102179 chr5 131820142 131820142 C T rs199626190 IRF1 Synonymous SNV G214G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.04 102180 chr3 58368357 58368357 T C rs56141849 PXK Synonymous SNV N73N 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 6.085 102181 chr4 9836625 9836625 G A rs147534794 SLC2A9 Synonymous SNV I433I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.633 102182 chr5 134367025 134367025 C T PITX1 Nonsynonymous SNV D115N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 102183 chr3 63898360 63898360 - GCAGCA rs1060499845 ATXN7 Q39_P40insQQ 0.006 0.016 0.037 8 7 6 0.021 11 2 3 2 2 102184 chr8 6378733 6378733 A G ANGPT2 Synonymous SNV V203V 0 0 0.007 0 0 0 0 2 0 0 0 0 5.222 102185 chr17 10628422 10628422 T C rs148509041 TMEM220 Nonsynonymous SNV I55V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 102186 chr5 1064363 1064363 G A rs141189884 SLC12A7 Synonymous SNV T814T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.752 102187 chr4 99997885 99997885 G A rs201030642 ADH5 Synonymous SNV T178T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.78 102188 chr3 184090724 184090724 A T rs1042348 THPO Nonsynonymous SNV Y208N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 102189 chr8 67341999 67341999 A G rs147364632 RRS1 Synonymous SNV G211G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.703 102190 chr3 69088750 69088750 C T rs530196560 TMF1 Synonymous SNV L596L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.5 102191 chr8 67577031 67577031 C T rs61753690 VCPIP1 Synonymous SNV T721T 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 13.6 102192 chr5 1036435 1036435 G A rs73026757 NKD2 Synonymous SNV T241T 0.029 0.016 0.041 6 34 6 0.015 12 0 0 1 0 14.22 102193 chr5 108171444 108171444 C T rs56244110 FER Synonymous SNV S139S 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 13.21 102194 chr8 73139328 73139328 T C rs75956688 LOC392232 0 0 0.085 0 0 0 0 25 0 0 1 0 7.17 102195 chr5 110097029 110097029 G A rs757342761 SLC25A46 Synonymous SNV T177T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.27 102196 chr5 138755784 138755784 T G rs139960738 DNAJC18 Nonsynonymous SNV I304L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 14.5 102197 chr5 139574169 139574169 G C rs374326696 CYSTM1 Nonsynonymous SNV G40A 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 17.06 102198 chr8 80567153 80567153 C T rs759485491 STMN2 Synonymous SNV H112H 0 0 0.007 0 0 0 0 2 0 0 0 0 13.54 102199 chr16 1388988 1388988 G A rs770795319 BAIAP3 Nonsynonymous SNV E73K 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 102200 chr5 94818202 94818202 T C rs116690692 TTC37 Nonsynonymous SNV N1396S 0.012 0.008 0.003 4 14 3 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.35 102201 chr5 112824024 112824024 - GCTGCTGCT rs577989080 MCC S29_D30insSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 102202 chr3 97851777 97851777 C T OR5H1 Nonsynonymous SNV P79L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 102203 chr8 92982896 92982896 T C RUNX1T1 Nonsynonymous SNV D473G 0 0 0.007 0 0 0 0 2 0 0 0 0 25 102204 chr5 115783019 115783019 C T rs114860630 SEMA6A Nonsynonymous SNV G795S 0.012 0.013 0.017 4 14 5 0.01 5 0 0 0 0 18.08 102205 chr16 1561025 1561025 C T rs201642067 IFT140 Nonsynonymous SNV E1437K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 14.61 102206 chr5 140214045 140214045 C A rs202125503 PCDHA7 Nonsynonymous SNV A26E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.318 102207 chr5 121739511 121739511 G A rs149915358 SNCAIP Nonsynonymous SNV R12Q 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign/Likely benign 13.72 102208 chr17 7695266 7695266 C T DNAH2 Nonsynonymous SNV T2311I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.558 102209 chr5 140589096 140589096 C T rs782101105 PCDHB12 Nonsynonymous SNV P206L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.56 102210 chr5 140755334 140755334 A T rs190439419 PCDHGA6 Nonsynonymous SNV I562F 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23 102211 chr5 126253783 126253783 C T MARCHF3 Synonymous SNV V27V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 102212 chr5 140779256 140779256 T C rs199516491 PCDHGB5 Nonsynonymous SNV L521P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 19.08 102213 chr4 100239284 100239284 T A rs6413413 ADH1B Nonsynonymous SNV T60S 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 0.001 102214 chr6 109321804 109321804 G A rs140062020 SESN1 Nonsynonymous SNV P148S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.66 102215 chr5 127626572 127626572 A G rs770778839 FBN2 Synonymous SNV T2099T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.617 102216 chr17 8243596 8243596 T C rs766346066 ODF4 Nonsynonymous SNV F76S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.015 102217 chr3 195594961 195594961 C T rs62283329 TNK2 Synonymous SNV P753P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 4.891 102218 chr5 134010341 134010341 G A rs201538262 SEC24A Nonsynonymous SNV S285N 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 10.8 102219 chr16 2230528 2230528 C T rs190982884 CASKIN1 Synonymous SNV P947P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.63 102220 chr16 2230795 2230795 C T rs147366819 CASKIN1 Synonymous SNV T858T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.488 102221 chr6 109575692 109575692 C T rs77558406 CCDC162P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.264 102222 chr6 109591279 109591279 C G rs116480805 CCDC162P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.37 102223 chr6 109837229 109837229 C T rs17070666 AK9 Nonsynonymous SNV R1299Q 0.004 0.01 0.024 1 5 4 0.003 7 0 0 0 0 26 102224 chr6 109935484 109935484 G A rs75714660 AK9 Nonsynonymous SNV S504F 0.004 0.01 0.024 1 5 4 0.003 7 0 0 0 0 1.198 102225 chr6 109935606 109935606 A G rs75733561 AK9 Nonsynonymous SNV S493P 0.004 0.01 0.02 1 5 4 0.003 6 0 0 0 0 3.423 102226 chr5 145252312 145252312 G C rs151087704 GRXCR2 Nonsynonymous SNV Q74E 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Uncertain significance 0.001 102227 chr5 145493818 145493818 C T rs758374409 LARS1 Nonsynonymous SNV V1082I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.79 102228 chr6 11104273 11104273 G A rs148418920 ERVFRD-1 Nonsynonymous SNV T424M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 102229 chr6 111688352 111688352 A G rs189062808 REV3L Synonymous SNV L2213L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.798 102230 chr5 147051315 147051315 G A rs761597569 JAKMIP2 Nonsynonymous SNV L19F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 102231 chr9 107289087 107289087 A T rs141868239 OR13C4 Nonsynonymous SNV I135N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.24 102232 chr4 110384603 110384603 T C rs200924216 SEC24B Nonsynonymous SNV F227S 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 23.1 102233 chr16 3406624 3406624 C T rs143337951 OR2C1 Synonymous SNV I228I 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 2.458 102234 chr17 10358097 10358097 G T rs766164383 MYH4 Synonymous SNV I822I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.616 102235 chr16 3708833 3708833 G A rs369893908 TRAP1 Synonymous SNV R605R 0.003 0 0 0 4 0 0 0 0 0 0 0 8.043 102236 chr9 108483848 108483848 A G rs201768590 TMEM38B Synonymous SNV L100L 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 0.105 102237 chr16 3843454 3843454 C T rs61759495 CREBBP Synonymous SNV P383P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 102238 chr16 4431767 4431767 C T rs148092711 VASN Nonsynonymous SNV R297C 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 31 102239 chr5 140256870 140256870 G T rs76220347 PCDHA12 Nonsynonymous SNV A605S 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 23.9 102240 chr5 138269735 138269735 C T rs973328870 CTNNA1 Nonsynonymous SNV P410L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 102241 chr5 1403073 1403073 G A rs6349 SLC6A3 Synonymous SNV A577A 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 Benign 10.25 102242 chr5 140347902 140347902 A T rs144335538 PCDHAC2 Synonymous SNV P517P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.01 102243 chr6 119295606 119295606 C T rs778308463 FAM184A Nonsynonymous SNV A968T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 102244 chr16 4940732 4940732 C T rs138302153 PPL Nonsynonymous SNV R720H 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 1.17 102245 chr3 38292941 38292941 G A rs145431865 OXSR1 Nonsynonymous SNV D475N 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 24.2 102246 chr6 123102279 123102279 G A rs12211883 FABP7 Synonymous SNV Q96Q 0.01 0.005 0.017 7 12 2 0.018 5 0 0 0 0 Benign 8.809 102247 chr17 18024134 18024134 C T rs557225435 MYO15A Nonsynonymous SNV P674S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.77 102248 chr5 139751873 139751873 C T rs6892971 SLC4A9 Nonsynonymous SNV S843L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.9 102249 chr9 115940935 115940935 G C rs371408703 FKBP15 Synonymous SNV L687L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.66 102250 chr3 39140352 39140352 C A rs138864486 GORASP1 Nonsynonymous SNV D162Y 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 33 102251 chr9 116931261 116931261 A G rs774493198 COL27A1 Nonsynonymous SNV T476A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 102252 chr5 140202672 140202672 G A rs144534621 PCDHA5 Nonsynonymous SNV A438T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 102253 chr5 140249941 140249941 G C rs17119218 PCDHA11 Nonsynonymous SNV W418S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 102254 chr5 140308620 140308620 G T rs6877058 PCDHAC1 Nonsynonymous SNV A715S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 102255 chr5 140347872 140347872 C T rs7712041 PCDHAC2 Synonymous SNV S507S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.02 102256 chr5 140725648 140725648 A T rs200571439 PCDHGA3 Nonsynonymous SNV K683I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.58 102257 chr5 140731783 140731783 C T rs200739845 PCDHGB1 Synonymous SNV A652A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.535 102258 chr6 135239816 135239816 G T rs61731731 ALDH8A1 Nonsynonymous SNV P351T 0.01 0.013 0.017 3 12 5 0.008 5 0 0 0 0 21.9 102259 chr5 140741739 140741739 G T rs576630104 PCDHGB2 Synonymous SNV R679R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 102260 chr5 140741758 140741758 G A rs780393919 PCDHGB2 Nonsynonymous SNV A686T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.008 102261 chr5 140741760 140741760 A G rs747599782 PCDHGB2 Synonymous SNV A686A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 102262 chr4 146824038 146824038 G A rs771386798 ZNF827 Nonsynonymous SNV R125W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 102263 chr5 140750460 140750460 C G rs116495533 PCDHGB3 Nonsynonymous SNV L167V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.68 102264 chr5 140755661 140755661 A C rs9324847 PCDHGA6 Nonsynonymous SNV I671L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.374 102265 chr16 19452024 19452024 G A rs746212735 TMC5 Nonsynonymous SNV E222K 0.003 0 0 0 4 0 0 0 0 0 0 0 2.863 102266 chr5 140763317 140763317 T A rs148240637 PCDHGA7 Nonsynonymous SNV I284K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 102267 chr5 140764269 140764269 C T rs115492697 PCDHGA7 Synonymous SNV N601N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.78 102268 chr5 140764842 140764842 A G rs115152670 PCDHGA7 Synonymous SNV L792L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.349 102269 chr5 140778094 140778094 A C rs187164796 PCDHGB5 Nonsynonymous SNV T134P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.012 102270 chr5 140778402 140778402 T G rs371527677 PCDHGB5 Nonsynonymous SNV N236K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.858 102271 chr9 125273271 125273271 G T rs137857788 OR1J2 Nonsynonymous SNV S64I 0.002 0.005 0.014 1 2 2 0.003 4 0 0 0 0 23.7 102272 chr5 140794576 140794576 C T rs149553852 PCDHGA10 Synonymous SNV L612L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.172 102273 chr5 140799269 140799269 G A rs116279995 PCDHGB7 Nonsynonymous SNV G615R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 102274 chr5 140802677 140802677 G A rs62621243 PCDHGA11 Nonsynonymous SNV R628H 0.008 0.008 0 5 9 3 0.013 0 0 0 0 0 23.8 102275 chr6 143090958 143090958 T C HIVEP2 Nonsynonymous SNV S1640G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 102276 chr5 140812255 140812255 A G rs143889434 PCDHGA12 Synonymous SNV V643V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.22 102277 chr5 140856544 140856544 C T rs141692339 PCDHGC3 Synonymous SNV N287N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.251 102278 chr5 161116131 161116131 A T GABRA6 Nonsynonymous SNV K134N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 102279 chr4 154649402 154649402 G A RNF175 Nonsynonymous SNV L120F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 102280 chr4 155191094 155191094 - A rs758627347 DCHS2 Stop gain S2179* 0.001 0 0 1 1 0 0.003 0 0 0 0 0 102281 chr5 141041779 141041779 G A rs58853991 ARAP3 Synonymous SNV A948A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.81 102282 chr6 147560323 147560323 C T rs34324348 STXBP5 Synonymous SNV A116A 0.008 0.029 0.01 1 9 11 0.003 3 0 0 0 0 15.06 102283 chr5 141336581 141336581 A G rs142624712 PCDH12 Nonsynonymous SNV V279A 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Likely benign 25.8 102284 chr3 45718433 45718433 A G rs140945464 LIMD1 Nonsynonymous SNV N638S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.6 102285 chr5 168100206 168100206 T A rs745689251 SLIT3 Nonsynonymous SNV I1280F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.86 102286 chr5 142780093 142780093 G A NR3C1 Synonymous SNV F104F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.177 102287 chr17 27613655 27613655 C A NUFIP2 Nonsynonymous SNV V453F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 102288 chr16 23702233 23702233 G A rs56157518 ERN2 Synonymous SNV C848C 0.004 0 0 6 5 0 0.015 0 0 0 0 0 5.687 102289 chr17 27613833 27613833 T G NUFIP2 Nonsynonymous SNV Q393H 0.006 0 0 2 7 0 0.005 0 0 0 0 0 13.16 102290 chr5 169026062 169026062 G T SPDL1 Nonsynonymous SNV R408L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 102291 chr9 126770274 126770274 G A rs41274362 LOC100505588 0 0 0.02 0 0 0 0 6 0 0 0 0 11.99 102292 chr9 12709024 12709024 G A rs200607153 TYRP1 Nonsynonymous SNV A486T 0 0 0.007 0 0 0 0 2 0 0 0 0 16.12 102293 chr16 25704310 25704310 A G rs146022178 HS3ST4 Nonsynonymous SNV D191G 0.013 0.005 0 2 15 2 0.005 0 0 0 0 0 22.8 102294 chr9 129642971 129642971 A T rs201818412 ZBTB34 Synonymous SNV P427P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 3.692 102295 chr5 147494001 147494001 G A rs142227576 SPINK5 Nonsynonymous SNV G655D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 102296 chr5 175819928 175819928 G A rs149148884 CLTB Synonymous SNV F94F 0.009 0.008 0.014 6 10 3 0.015 4 0 0 0 0 12.5 102297 chr3 46944243 46944243 T A PTH1R Nonsynonymous SNV F453Y 0 0.003 0 0 0 1 0 0 0 0 0 0 29 102298 chr17 39191027 39191027 G A rs140428118 KRTAP1-3 Nonsynonymous SNV T16I 0.019 0.018 0 2 22 7 0.005 0 2 0 0 0 11.71 102299 chr4 16010694 16010694 G A rs373804552 PROM1 Synonymous SNV I384I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.578 102300 chr17 30986166 30986166 C T rs7215958 MYO1D Nonsynonymous SNV R771H 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 Benign 20.3 102301 chr9 130529313 130529313 G A rs528153400 SH2D3C Nonsynonymous SNV R60W 0 0 0.007 0 0 0 0 2 0 0 0 0 1.06 102302 chr17 30986185 30986185 G A rs7209106 MYO1D Nonsynonymous SNV P765S 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 Benign 23.1 102303 chr3 47164567 47164567 C T rs377393336 SETD2 Nonsynonymous SNV R476K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 102304 chr17 39305776 39305776 - GCAGCAGCTGGGGCA rs146438235 KRTAP4-5 C81_Q82insCPSCC 0.022 0.018 0 2 26 7 0.005 0 2 0 0 0 102305 chr6 154360803 154360803 T A rs76546679 OPRM1 Nonsynonymous SNV S42T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 23.3 102306 chr5 176860638 176860638 C T rs146726245 GRK6 Synonymous SNV N23N 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 15.24 102307 chr3 47470017 47470017 G A rs760853834 SCAP Synonymous SNV H132H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 102308 chr17 33463462 33463462 G A rs34325923 NLE1 Nonsynonymous SNV L3F 0.017 0.013 0.014 3 20 5 0.008 4 0 0 0 0 29.3 102309 chr5 176939826 176939826 G A rs143421709 DDX41 Synonymous SNV L326L 0.015 0.01 0.01 6 18 4 0.015 3 0 0 0 0 11.32 102310 chr3 48476389 48476389 C T rs370066515 CCDC51 Synonymous SNV E50E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.957 102311 chr5 149578896 149578896 C T rs75182555 SLC6A7 Synonymous SNV L230L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 13.45 102312 chr5 149677803 149677803 G A rs112896077 ARSI Synonymous SNV P228P 0.003 0.003 0.01 3 3 1 0.008 3 0 0 0 0 Benign 4.229 102313 chr3 48680295 48680295 G A rs200894523 CELSR3 Nonsynonymous SNV T2810M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 102314 chr3 48682550 48682550 C T rs149614835 CELSR3 Nonsynonymous SNV M2630I 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 32 102315 chr6 158505068 158505068 G A rs139862615 SYNJ2 Nonsynonymous SNV D787N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 14.67 102316 chr5 177697361 177697361 G T COL23A1 Nonsynonymous SNV P149T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 19.04 102317 chr9 131497620 131497620 A G rs748448162 ZER1 Synonymous SNV S711S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.004 102318 chr17 39502917 39502917 C A rs144588166 KRT33A Nonsynonymous SNV D294Y 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 15.14 102319 chr4 169799521 169799521 G C rs557697540 PALLD Nonsynonymous SNV G160A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 17.61 102320 chr17 34328619 34328619 A G CCL15-CCL14 0.006 0.005 0 0 7 2 0 0 0 0 0 0 8.424 102321 chr6 159134863 159134863 A G SYTL3 Nonsynonymous SNV N183S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 102322 chr16 30740729 30740729 C G SRCAP Nonsynonymous SNV P1988R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 102323 chr4 170990375 170990375 C T rs56350236 AADAT Nonsynonymous SNV V243I 0.003 0.005 0.003 7 4 2 0.018 1 1 0 0 0 16.24 102324 chr5 178562961 178562961 C T rs139943837 ADAMTS2 Synonymous SNV T678T 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Likely benign 17.53 102325 chr6 159457826 159457826 C G rs144047559 TAGAP Nonsynonymous SNV G347A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.002 102326 chr9 133569296 133569296 A T EXOSC2 Nonsynonymous SNV M40L 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 102327 chr17 37580936 37580936 C T rs146073566 MED1 Synonymous SNV V265V 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 15.38 102328 chr16 31477658 31477658 C T rs200335852 ARMC5 Synonymous SNV F752F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 13.82 102329 chr9 134165718 134165718 A G rs150529726 PLPP7 Nonsynonymous SNV M112V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.14 102330 chr4 178231164 178231164 C T rs375478163 NEIL3 Synonymous SNV L19L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.64 102331 chr9 134357164 134357164 C T rs199736233 PRRC2B Nonsynonymous SNV A1651V 0.003 0.003 0.017 3 3 1 0.008 5 0 0 0 0 25.5 102332 chr4 1807505 1807505 G A rs557734169 FGFR3 Synonymous SNV A446A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.365 102333 chr17 38910714 38910714 C T rs201959114 KRT25 Nonsynonymous SNV A146T 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 7.778 102334 chr16 55690627 55690627 C A rs11568323 SLC6A2 Nonsynonymous SNV N7K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Uncertain significance 22.6 102335 chr5 32263338 32263338 G A MTMR12 Synonymous SNV P198P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.312 102336 chr16 56370736 56370736 C T rs546569747 GNAO1 Synonymous SNV S229S 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign/Likely benign 18.86 102337 chr5 176899148 176899148 G C rs142895287 DBN1 Nonsynonymous SNV R22G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.1 102338 chr5 176916615 176916615 G C rs372400841 PDLIM7 Synonymous SNV P216P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.335 102339 chr5 178552098 178552098 G A rs200309353 ADAMTS2 Nonsynonymous SNV P945L 0.004 0 0 5 5 0 0.013 0 0 0 0 0 Uncertain significance 10.79 102340 chr17 39155948 39155948 G A rs150830376 KRTAP3-2 Nonsynonymous SNV P53L 0.011 0.01 0.01 6 13 4 0.015 3 0 0 0 0 25 102341 chr4 187178437 187178437 G A rs121964951 KLKB1 Nonsynonymous SNV C548Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 32 102342 chr6 170059261 170059261 C T rs763294437 WDR27 Nonsynonymous SNV V223M 0.003 0 0 0 3 0 0 0 0 0 0 0 5.096 102343 chr5 38409147 38409147 C T rs16903964 EGFLAM Synonymous SNV N196N 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 13.69 102344 chr5 180017690 180017690 G - rs200868132 SCGB3A1 Stop gain V68* 0.003 0 0 1 4 0 0.003 0 0 0 0 0 102345 chr9 139311613 139311613 G A PMPCA Nonsynonymous SNV E151K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 102346 chr5 40854004 40854004 C T rs148780446 CARD6 Nonsynonymous SNV S857L 0.011 0.023 0.003 6 13 9 0.015 1 0 0 0 0 3.55 102347 chr9 139372024 139372024 G A rs561436017 SEC16A Nonsynonymous SNV P15L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 102348 chr5 40958215 40958215 G A rs150696042 C7 Synonymous SNV E447E 0.008 0.021 0.007 6 9 8 0.015 2 0 0 0 0 9.606 102349 chr16 67188705 67188705 G A rs750618299 TRADD Synonymous SNV Y262Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.66 102350 chr16 67335716 67335716 T G rs931452553 KCTD19 Synonymous SNV V251V 0.004 0 0 0 5 0 0 0 0 0 0 0 7.058 102351 chr17 39642814 39642814 G A rs149008991 KRT36 Synonymous SNV P406P 0.014 0.01 0 0 16 4 0 0 1 0 0 0 1.76 102352 chr5 43280318 43280318 T G rs61734290 NIM1K Synonymous SNV T266T 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 0.766 102353 chr16 69385641 69385641 A G rs76116020 TMED6 Nonsynonymous SNV F6L 0.01 0.01 0.007 1 12 4 0.003 2 0 0 0 0 0.008 102354 chr5 475265 475265 G A rs201352986 SLC9A3-AS1 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 9.313 102355 chr3 62357823 62357834 GCGCCGGCAAGC - rs759229097 FEZF2 R237_A240del 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 102356 chr5 176939146 176939146 G A rs140652745 DDX41 Synonymous SNV P435P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.628 102357 chr5 176939537 176939537 G A rs756656167 DDX41 Synonymous SNV H377H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 102358 chr6 26027202 26027202 A C rs150550889 H4C2 Synonymous SNV R93R 0.006 0.01 0 0 7 4 0 0 0 0 0 0 Benign 0.007 102359 chr5 52776638 52776638 A C rs773779294 FST Nonsynonymous SNV H6P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.93 102360 chr5 177649357 177649357 G A rs372306666 PHYKPL Nonsynonymous SNV T268M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 102361 chr4 3251007 3251007 G A rs530828281 MSANTD1 Nonsynonymous SNV A20T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.207 102362 chr5 35649489 35649489 C T rs112202508 SPEF2 Synonymous SNV F251F 0.005 0.008 0 0 6 3 0 0 0 0 0 0 10.38 102363 chr16 72821916 72821916 T C rs117523752 ZFHX3 Nonsynonymous SNV K2506R 0.012 0.016 0 7 14 6 0.018 0 0 0 0 0 Uncertain significance 11.67 102364 chr3 69168236 69168236 A G rs72924884 LMOD3 Synonymous SNV L424L 0.01 0.01 0.02 8 12 4 0.021 6 1 0 0 0 Benign 12.07 102365 chr3 69168628 69168628 C T rs111797345 LMOD3 Nonsynonymous SNV G293D 0.009 0.01 0.017 8 10 4 0.021 5 0 0 0 0 Benign 24.6 102366 chr5 179018678 179018678 A G rs148588709 RUFY1 Nonsynonymous SNV Q286R 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 21.4 102367 chr6 27277716 27277716 A T rs61736082 POM121L2 Nonsynonymous SNV I745N 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 0.031 102368 chr16 75674196 75674196 C G rs11557669 KARS1 Nonsynonymous SNV E92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.39 102369 chr6 27279185 27279185 A T rs16897553 POM121L2 Synonymous SNV A255A 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 0.005 102370 chr16 77246091 77246091 - G rs371551639 SYCE1L Frameshift insertion E123Gfs*21 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 102371 chr17 42114906 42114906 G A rs199904232 LSM12 Synonymous SNV T65T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.78 102372 chr5 64766798 64766798 G A rs61736454 ADAMTS6 Nonsynonymous SNV S90L 0.008 0.01 0.003 5 9 4 0.013 1 0 0 0 0 25.5 102373 chr4 40356159 40356159 G A rs200869520 CHRNA9 Synonymous SNV V354V 0 0 0 2 0 0 0.005 0 0 0 0 0 8.299 102374 chr9 18941665 18941665 C T rs144484870 SAXO1 Nonsynonymous SNV D66N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.08 102375 chr9 19063765 19063765 A G rs13302453 SCARNA8 0 0 0.105 0 0 0 0 31 0 0 2 0 16.15 102376 chr9 19083039 19083039 A G rs759040195 HAUS6 Synonymous SNV V234V 0 0 0.007 0 0 0 0 2 0 0 0 0 11.37 102377 chr5 70308303 70308303 C T rs765747754 NAIP Nonsynonymous SNV S147N 0.005 0.016 0.003 1 6 6 0.003 1 0 1 0 0 0.003 102378 chr17 57751091 57751091 T C rs369042448 CLTC Synonymous SNV Y796Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.32 102379 chr5 24488120 24488120 G A rs141645081 CDH10 Synonymous SNV G79G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.119 102380 chr5 52377476 52377478 TCT - rs770591235 ITGA2 S1034del 0.003 0 0.003 0 4 0 0 1 0 0 0 0 102381 chr16 81929446 81929446 C T rs201652976 PLCG2 Synonymous SNV V369V 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Benign 13.1 102382 chr9 2717760 2717760 G A rs757360187 KCNV2 Synonymous SNV R7R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.689 102383 chr3 9990882 9990882 C T rs370534364 PRRT3 Synonymous SNV P306P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.83 102384 chr17 61685315 61685315 C G rs761189530 TACO1 Nonsynonymous SNV L283V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 102385 chr16 84218478 84218478 C T rs151038352 TAF1C Synonymous SNV E39E 0.003 0 0 0 3 0 0 0 0 0 0 0 7.836 102386 chr5 73236764 73236764 C G ARHGEF28 Nonsynonymous SNV L1369V 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 17.84 102387 chr9 35093139 35093139 G A rs771070092 PIGO Nonsynonymous SNV P336L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 102388 chr5 74962797 74962797 G A ANKDD1B Nonsynonymous SNV A458T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 102389 chr9 35616241 35616241 G A CD72 Synonymous SNV N129N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.597 102390 chr9 35715123 35715123 C T TLN1 Nonsynonymous SNV G896E 0 0 0.007 0 0 0 0 2 0 0 0 0 24.3 102391 chr16 85699940 85699940 G A rs142485822 GSE1 Synonymous SNV L935L 0.01 0 0 0 12 0 0 0 0 0 0 0 10.16 102392 chr17 48619434 48619434 C A rs974557618 EPN3 Nonsynonymous SNV F605L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.29 102393 chr4 5617179 5617179 C T EVC2 Synonymous SNV E853E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.331 102394 chr9 3828379 3828379 G A rs76094493 GLIS3 Nonsynonymous SNV L741F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 22.4 102395 chr17 54431364 54431364 T C rs9902114 ANKFN1 Synonymous SNV I189I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.687 102396 chr17 54671859 54671859 G A rs199566527 NOG Nonsynonymous SNV G92E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 102397 chr9 414824 414824 C T rs13285348 DOCK8 Synonymous SNV S1091S 0 0 0.02 1 0 0 0.003 6 0 0 0 0 Benign 16.72 102398 chr17 56284465 56284465 C T rs201619500 MKS1 Nonsynonymous SNV R260Q 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 102399 chr5 55807424 55807424 A C rs116097298 C5orf67 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 5.293 102400 chr6 43027054 43027054 G A MRPL2 Synonymous SNV A22A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 2.979 102401 chr6 43034855 43034855 C T rs146188256 KLC4 Nonsynonymous SNV R305C 0.009 0.01 0.01 5 10 4 0.013 3 0 0 0 0 1.603 102402 chr9 8633333 8633333 T C PTPRD Synonymous SNV R112R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.852 102403 chr9 88938710 88938710 T C TUT7 Nonsynonymous SNV E529G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.656 102404 chr17 263586 263675 GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCC - C17orf97 K330_P359del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 102405 chr17 602612 602612 C T rs201263267 VPS53 Synonymous SNV A59A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 18.67 102406 chr17 73887089 73887089 C A rs61754864 TRIM65 Nonsynonymous SNV R420L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 102407 chr6 46655876 46655876 C T rs201779806 TDRD6 Nonsynonymous SNV T4M 0.002 0 0 2 2 0 0.005 0 0 0 0 1 25.6 102408 chr17 66391314 66391314 C T rs11657051 ARSG Nonsynonymous SNV R382W 0.018 0.029 0.017 4 21 11 0.01 5 0 0 0 0 22.4 102409 chr17 67119505 67119505 T G rs140920259 ABCA6 Synonymous SNV S437S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.205 102410 chr9 96031135 96031135 G T rs746821287 WNK2 Synonymous SNV G1349G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.155 102411 chr17 1629966 1629966 C G rs76562517 WDR81 Synonymous SNV A571A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.962 102412 chr5 71756901 71756901 G T rs543126714 ZNF366 Nonsynonymous SNV S141R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.441 102413 chr9 96291995 96291995 C T rs41274404 FAM120A Nonsynonymous SNV P623S 0.005 0.005 0.014 1 6 2 0.003 4 0 0 0 0 2.755 102414 chr5 73197079 73197079 C A rs182944481 ARHGEF28 Synonymous SNV T1035T 0.014 0.013 0.003 6 17 5 0.015 1 0 0 0 0 Benign 22.6 102415 chrUn_gl000220 118253 118253 C T RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.207 0 0 0 0 61 0 0 0 0 102416 chrUn_gl000220 118434 118434 - GT RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.095 0 0 0 0 28 0 0 0 0 102417 chrUn_gl000220 118542 118543 GT - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.133 0 0 0 0 39 0 0 8 0 102418 chrUn_gl000220 122142 122144 TCC - LOC100507412 0 0 0.01 0 0 0 0 3 0 0 0 0 102419 chr17 71747509 71747509 A G rs191313155 LOC100134391 0.003 0.005 0 1 4 2 0.003 0 0 1 0 0 3.711 102420 chrX 101971061 101971061 G A rs763037008 ARMCX5-GPRASP2, GPRASP2 Nonsynonymous SNV A422T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 102421 chr17 3020142 3020142 C T rs61732249 OR1E3 Synonymous SNV C83C 0.021 0.013 0.01 7 25 5 0.018 3 0 0 0 0 2.215 102422 chr6 107077566 107077566 C T rs781233024 QRSL1 Nonsynonymous SNV R4W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.2 102423 chrX 105153259 105153259 C A NRK Nonsynonymous SNV H542Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 102424 chr4 144619637 144619637 A G rs200718502 FREM3 Nonsynonymous SNV I731T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.005 102425 chr4 146560429 146560429 T C rs34702224 MMAA Synonymous SNV S46S 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 0.338 102426 chrX 108908714 108908714 T C rs200451158 ACSL4 Nonsynonymous SNV Y483C 0 0.005 0.017 0 0 2 0 5 0 1 1 0 Conflicting interpretations of pathogenicity 23.4 102427 chrX 109694646 109694646 A G rs765018566 RTL9 Synonymous SNV A267A 0 0.005 0.007 0 0 2 0 2 0 1 0 0 0.034 102428 chrX 109697766 109697766 C T rs5942633 RTL9 Synonymous SNV T1307T 0.009 0.008 0.007 6 11 3 0.015 2 4 0 0 2 11.77 102429 chr6 109770079 109770079 G A rs199610079 MICAL1 Nonsynonymous SNV S421L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.66 102430 chr4 84369971 84369971 T G HELQ Nonsynonymous SNV M386L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.56 102431 chr6 11105076 11105076 C G rs764429308 ERVFRD-1 Nonsynonymous SNV Q156H 0.004 0.01 0 0 5 4 0 0 0 0 0 0 13.59 102432 chr4 151765894 151765894 T C rs373062327 LRBA Synonymous SNV Q1459Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.507 102433 chr17 73016729 73016729 A C rs140917471 MRPL58 Nonsynonymous SNV E171D 0.009 0.016 0.01 4 11 6 0.01 3 0 0 0 0 24.8 102434 chrX 119249580 119249580 C A rs782482911 RHOXF1 Nonsynonymous SNV G65C 0 0 0.007 0 0 0 0 2 0 0 0 0 22.2 102435 chr5 79026810 79026810 C T rs551260526 CMYA5 Nonsynonymous SNV S741L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 102436 chr5 79054652 79054652 G C CMYA5 Nonsynonymous SNV M3729I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 102437 chr4 153332910 153332910 - AGG rs541979458 FBXW7 T15_G16insP 0.001 0.003 0 0 1 1 0 0 0 0 0 0 102438 chr6 111922353 111922353 T C rs371150466 TRAF3IP2-AS1 0.003 0.01 0 0 3 4 0 0 0 0 0 0 4.58 102439 chr6 112405394 112405394 G A rs781921987 TUBE1 Stop gain R70X 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 36 102440 chr17 4349411 4349411 G A rs775553403 SPNS3 Synonymous SNV A30A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.46 102441 chr6 100061624 100061624 - CCGCCGCCGCCG PRDM13 P378_G379insPPPP 0.003 0 0 0 4 0 0 0 0 0 0 0 102442 chr4 862342 862342 T G rs147004796 GAK Nonsynonymous SNV T715P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.2 102443 chr17 4455198 4455198 C T rs138633396 MYBBP1A Nonsynonymous SNV G334R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 25.2 102444 chr5 80640804 80640804 C T rs777679257 ACOT12 Nonsynonymous SNV R277Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.079 102445 chr6 117591923 117591923 C G rs779352508 VGLL2 Nonsynonymous SNV H203Q 0 0.005 0 0 0 2 0 0 0 0 0 0 10.21 102446 chr4 91229455 91229455 G A rs199614921 CCSER1 Nonsynonymous SNV R7K 0.004 0.008 0.014 6 5 3 0.015 4 0 0 0 0 27.5 102447 chr6 72960774 72960774 A G rs186078277 RIMS1 Synonymous SNV E315E 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 Likely benign 5.403 102448 chr6 121412114 121412114 G A rs118077502 TBC1D32 Nonsynonymous SNV T1180I 0.015 0.008 0.007 2 18 3 0.005 2 0 0 0 0 Benign 16.82 102449 chrX 142716595 142716595 A G SLITRK4 Nonsynonymous SNV F777S 0 0 0.007 0 0 0 0 2 0 0 0 0 19.08 102450 chr4 96051132 96051132 C T rs56083112 BMPR1B Synonymous SNV T235T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 11.27 102451 chr17 74161613 74161613 A G rs199579320 RNF157 Synonymous SNV H214H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.245 102452 chr5 90040890 90040890 T C rs41311343 ADGRV1 Nonsynonymous SNV M3526T 0.014 0.013 0.024 3 16 5 0.008 7 0 0 0 0 Benign 0.002 102453 chr4 985488 985488 C T SLC26A1 Nonsynonymous SNV D2N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.46 102454 chr6 111585121 111585121 C T rs139062302 MFSD4B Synonymous SNV F95F 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 12.35 102455 chr5 101627230 101627230 G A rs149116103 SLCO4C1 Synonymous SNV L146L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.287 102456 chr6 128134184 128134184 C T rs199999783 THEMIS Synonymous SNV E534E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.349 102457 chr6 114378722 114378722 A T rs17793043 HS3ST5 Nonsynonymous SNV I247N 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.2 102458 chr6 7884696 7884696 G A rs145581599 TXNDC5 Nonsynonymous SNV P250S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 33 102459 chr5 10618447 10618447 C T rs139589327 ANKRD33B Synonymous SNV T123T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 12.53 102460 chr17 6716256 6716256 G C rs142630501 TEKT1 Nonsynonymous SNV T249R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.2 102461 chr6 131481249 131481249 G A rs371232881 AKAP7 Nonsynonymous SNV V68I 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 0.061 102462 chrX 153593041 153593041 G A rs200660642 FLNA Synonymous SNV D625D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.388 102463 chr6 131148644 131148644 G A rs61741242 SMLR1 Nonsynonymous SNV V31M 0.013 0.01 0.003 5 15 4 0.013 1 0 0 0 0 5.235 102464 chrX 16170467 16170467 T C rs1054573708 GRPR Nonsynonymous SNV L285P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 102465 chr6 136882717 136882717 G A rs45599539 MAP3K5 Nonsynonymous SNV T1314I 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 17.14 102466 chr5 112478919 112478919 T A rs144395184 MCC Nonsynonymous SNV I104F 0.003 0 0 4 4 0 0.01 0 0 0 0 0 25 102467 chr6 123110537 123110537 C T rs12523814 SMPDL3A Nonsynonymous SNV H16Y 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.008 102468 chr6 123126138 123126138 T C rs61741159 SMPDL3A Synonymous SNV L144L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.464 102469 chr4 184175148 184175148 G A rs751858058 WWC2 Nonsynonymous SNV E398K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 102470 chr18 662316 662316 A T rs376793375 TYMS Nonsynonymous SNV E150D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.009 102471 chrX 2779749 2779749 C T rs17330993 GYG2 Nonsynonymous SNV R187C 0.004 0.01 0.01 5 5 4 0.013 3 0 0 1 2 Benign 10.59 102472 chr6 109282796 109282796 G T ARMC2 Nonsynonymous SNV C481F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 102473 chr4 186097166 186097166 T C rs199637576 CFAP97 Nonsynonymous SNV H365R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.303 102474 chr6 144086751 144086751 C G rs374498739 PHACTR2 Nonsynonymous SNV P270A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 102475 chr6 129826383 129826383 T C rs142451929 LAMA2 Synonymous SNV Y2858Y 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 102476 chr6 109802929 109802929 C T rs144189559 ZBTB24 Nonsynonymous SNV A101T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 17.49 102477 chr17 78291023 78291023 G A rs140980905 RNF213 Synonymous SNV A949A 0.015 0.01 0.007 5 18 4 0.013 2 0 0 0 0 Benign 9.515 102478 chr6 130370965 130370965 A G rs373856839 L3MBTL3 Synonymous SNV G93G 0.003 0 0 0 4 0 0 0 0 0 0 0 5.455 102479 chr6 130505284 130505284 C T rs41285308 SAMD3 Synonymous SNV Q230Q 0.013 0.003 0.01 9 15 1 0.023 3 0 0 0 1 13.42 102480 chr6 111696474 111696474 G A rs34268149 REV3L Synonymous SNV P1028P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.223 102481 chr7 100280938 100280938 G A rs148785085 GIGYF1 Nonsynonymous SNV R728W 0.006 0 0 1 7 0 0.003 0 0 0 0 0 26.1 102482 chrX 36337351 36337351 T C rs145065748 CFAP47 Nonsynonymous SNV M2791T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.002 102483 chr6 111697863 111697863 A G rs143341805 REV3L Synonymous SNV A565A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.091 102484 chr6 112397236 112397236 A C rs145857248 TUBE1 Nonsynonymous SNV L239R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.61 102485 chrX 40691634 40691634 G - rs371413459 LOC100132831 0 0 0.078 0 0 0 0 23 0 0 2 0 102486 chr17 79203199 79203199 G A rs757558584 TEPSIN Synonymous SNV A369A 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 7.36 102487 chr18 10672692 10672692 G A rs146400447 PIEZO2 Synonymous SNV G2667G 0.01 0.01 0.003 2 12 4 0.005 1 1 0 0 0 Benign 10.13 102488 chrX 49034381 49034381 G A rs143162326 PRICKLE3 Nonsynonymous SNV R238C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 102489 chrX 49104709 49104709 C T rs143790434 CCDC22 Nonsynonymous SNV R384C 0.014 0.01 0.014 5 17 4 0.013 4 2 1 1 2 Conflicting interpretations of pathogenicity 29.5 102490 chr6 151004953 151004953 C T rs140748525 PLEKHG1 Nonsynonymous SNV R19C 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 6.55 102491 chrX 53423185 53423185 G A rs139654605 SMC1A Synonymous SNV L942L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 10.71 102492 chr6 144508310 144508310 G A rs146949718 STX11 Synonymous SNV E182E 0.017 0.013 0.017 3 20 5 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 6.357 102493 chr6 119150218 119150218 T A rs9387607 MCM9 Nonsynonymous SNV E507D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.37 102494 chr6 145956419 145956419 G A rs147399860 EPM2A Nonsynonymous SNV A227V 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.95 102495 chr17 80037473 80037473 C T rs199781548 FASN Synonymous SNV A2386A 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 12.75 102496 chrX 63412856 63412856 T C rs149109618 AMER1 Nonsynonymous SNV H104R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.001 102497 chrX 63445393 63445393 G A rs374475644 ASB12 Synonymous SNV N46N 0 0 0.007 0 0 0 0 2 0 0 0 0 2.668 102498 chr18 13884892 13884892 G A rs28926181 MC2R Nonsynonymous SNV T209I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.133 102499 chrX 68060299 68060299 G A rs143341175 EFNB1 Synonymous SNV S281S 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 6.347 102500 chr18 19283619 19283619 G C rs150557549 ABHD3 Synonymous SNV V84V 0.004 0.003 0.007 5 5 1 0.013 2 0 0 0 0 7.283 102501 chr4 3076648 3076649 GC - rs750382879 HTT Q33Afs*49 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 102502 chr4 3076651 3076654 GCAG - HTT Q33Hfs*67 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 102503 chr5 138661353 138661353 - ATAGACTATGTGATACCTAAAACAGG MATR3 0 0 0 1 0 0 0.003 0 0 0 0 0 102504 chrX 70828934 70828934 C T rs143483517 GCNA Synonymous SNV Y526Y 0.013 0.005 0.007 0 15 2 0 2 4 1 0 0 4.615 102505 chr6 155577714 155577714 G C rs114239511 TIAM2 Nonsynonymous SNV S447T 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 24.1 102506 chrX 73043145 73043145 T - rs375977945 TSIX, XIST 0 0 0.204 0 0 0 0 60 0 0 6 0 102507 chr6 155577716 155577716 T C rs114515125 TIAM2 Synonymous SNV L448L 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 10.6 102508 chr6 155577717 155577717 T A rs116268446 TIAM2 Stop gain L448X 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 40 102509 chrX 73066439 73066439 T C rs1894271 XIST 0 0 0.112 0 0 0 0 33 0 0 9 0 8.022 102510 chr5 140201968 140201968 A G rs140694784 PCDHA5 Nonsynonymous SNV E203G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 24.4 102511 chr5 140203425 140203425 G C rs17844298 PCDHA5 Nonsynonymous SNV E689Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.18 102512 chr5 140235866 140235866 T C rs782635462 PCDHA10 Nonsynonymous SNV L78P 0.003 0.003 0 5 3 1 0.013 0 0 0 0 2 24.6 102513 chr6 131946054 131946054 G A rs151031376 MED23 Nonsynonymous SNV L79F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 25.5 102514 chr6 158923878 158923878 G A rs35426837 TULP4 Synonymous SNV P1061P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 0.036 102515 chr5 140307272 140307272 - G rs536640692 PCDHAC1 Frameshift insertion E267Gfs*23 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 102516 chr6 158924788 158924788 T C rs61745447 TULP4 Synonymous SNV L1365L 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign 0.016 102517 chr6 159058891 159058891 T C rs61738908 DYNLT1 Synonymous SNV Q21Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.416 102518 chr6 159129409 159129409 C T rs535441744 SYTL3 Nonsynonymous SNV R168C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.8 102519 chr4 38799252 38799252 G A rs747332840 TLR1 Stop gain Q401X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 102520 chr6 135759537 135759537 G A rs772989270 AHI1 Nonsynonymous SNV T671I 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 29.9 102521 chr10 100182186 100182186 G A rs112337765 HPS1 Synonymous SNV C441C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.834 102522 chr10 101591737 101591737 T C rs45441199 ABCC2 Nonsynonymous SNV I1036T 0.014 0.01 0.007 0 16 4 0 2 0 0 0 0 Benign/Likely benign 16.52 102523 chr18 8786033 8786033 G A rs377158398 MTCL1 Nonsynonymous SNV A611T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 102524 chr10 101945291 101945291 G A ERLIN1 Synonymous SNV G31G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 102525 chr18 9256258 9256258 T C rs34996750 ANKRD12 Nonsynonymous SNV L975S 0.015 0.005 0.01 8 18 2 0.021 3 1 0 0 2 11.3 102526 chr6 154732169 154732169 C T rs142294952 CNKSR3 Nonsynonymous SNV R218Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.1 102527 chr10 102676996 102676996 C T rs41291454 SLF2 Nonsynonymous SNV P285L 0 0 0.007 0 0 0 0 2 0 0 0 0 14.05 102528 chr4 40936690 40936690 C A APBB2 Synonymous SNV P356P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 102529 chr10 102766409 102766409 C T rs183305963 LZTS2 Synonymous SNV A278A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.89 102530 chr18 44126946 44126946 C T rs200068167 LOXHD1 Synonymous SNV V31V 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.99 102531 chr6 143784092 143784092 A G rs35220041 PEX3 Nonsynonymous SNV Q82R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 13.61 102532 chr10 102770514 102770514 T C rs34616847 PDZD7 Nonsynonymous SNV H711R 0.018 0.016 0.007 11 21 6 0.028 2 0 0 0 0 Benign 15.02 102533 chr6 158504508 158504508 G C rs748293946 SYNJ2 Synonymous SNV L734L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.931 102534 chr6 167184378 167184378 G A rs138600299 RPS6KA2 Synonymous SNV C49C 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 0.294 102535 chr5 145427421 145427421 G A rs75157444 SH3RF2 Synonymous SNV A382A 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 10.39 102536 chr6 159655040 159655040 C A FNDC1 Nonsynonymous SNV P1166T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.53 102537 chr6 167570760 167570760 A G GPR31 Nonsynonymous SNV V187A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.193 102538 chr18 19203851 19203851 A G rs775855047 SNRPD1 Synonymous SNV T37T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.41 102539 chr18 21119348 21119348 T C rs34084984 NPC1 Nonsynonymous SNV N961S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.469 102540 chr6 168377012 168377012 G T rs78475769 HGC6.3 Synonymous SNV S107S 0.014 0.008 0 10 16 3 0.026 0 1 0 0 0 1.507 102541 chr6 151670725 151670725 C T rs375304572 AKAP12 Nonsynonymous SNV A295V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 28 102542 chr18 56063465 56063465 C G rs372898637 NEDD4L Synonymous SNV A823A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.34 102543 chr18 21197733 21197733 T C rs35406181 ANKRD29 Nonsynonymous SNV E229G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 102544 chr7 103179591 103179591 C T rs114344654 RELN Nonsynonymous SNV V2372M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 102545 chr10 114185353 114185353 - A ZDHHC6 0 0 0.034 0 0 0 0 10 0 0 3 0 102546 chr5 149001303 149001303 G A rs139526604 ARHGEF37 Nonsynonymous SNV R338Q 0.007 0.008 0.017 5 8 3 0.013 5 0 0 0 0 32 102547 chr6 161155096 161155096 G A rs182937977 PLG Nonsynonymous SNV D553N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.1 102548 chr4 5627483 5627483 A G rs148407223 EVC2 Nonsynonymous SNV L600P 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Uncertain significance 27.8 102549 chr5 149206367 149206367 G A rs138937758 PPARGC1B Synonymous SNV S128S 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 9.047 102550 chr4 56308756 56308756 G A rs143911374 CLOCK Nonsynonymous SNV P650S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.83 102551 chr6 154360655 154360655 C T rs41292890 OPRM1 Synonymous SNV S85S 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 drug response 14.62 102552 chr4 5642327 5642327 T C rs73063795 EVC2 Nonsynonymous SNV T382A 0.009 0.013 0.003 4 10 5 0.01 1 0 0 0 0 Benign 11.28 102553 chr5 149433746 149433746 G A rs147476583 CSF1R Synonymous SNV S935S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 6.482 102554 chr4 5710149 5710149 A G rs557830930 EVC2 Nonsynonymous SNV L31P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 102555 chr4 57176832 57176832 T C rs79868722 KIAA1211 Nonsynonymous SNV S96P 0.009 0.016 0.02 7 11 6 0.018 6 0 0 0 0 12.56 102556 chr6 155597474 155597474 C T rs149570827 CLDN20 Synonymous SNV L207L 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 9.487 102557 chr10 11653468 11653468 G T rs189672296 LOC107984208 0 0 0.024 0 0 0 0 7 0 0 0 0 10.48 102558 chr6 157099426 157099426 A G rs78253128 ARID1B Synonymous SNV Q121Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 0.974 102559 chr6 157454202 157454202 G A rs778702667 ARID1B Synonymous SNV Q41Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.012 102560 chr6 158361979 158361979 G A SNX9 Synonymous SNV L571L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 102561 chr6 158487636 158487636 G A rs138198104 SYNJ2 Synonymous SNV S325S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 102562 chr17 27493935 27493935 G A rs35771220 MYO18A Synonymous SNV D8D 0.027 0.023 0.007 15 32 9 0.038 2 0 0 0 0 6.24 102563 chr6 159086557 159086557 C T rs150257129 SYTL3 Nonsynonymous SNV R81W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 27.2 102564 chr10 120832999 120832999 T C EIF3A Nonsynonymous SNV M111V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.414 102565 chr6 25727158 25727158 G A rs141897280 HIST1H2BA Nonsynonymous SNV G8S 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 0.003 102566 chr7 127014438 127014438 T C rs139681633 ZNF800 Nonsynonymous SNV I318V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 10.95 102567 chr4 7044140 7044140 G C CCDC96 Nonsynonymous SNV Q176E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 102568 chr6 26093141 26093141 G A rs1800562 HFE Nonsynonymous SNV C102Y 0.012 0.018 0.007 3 14 7 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity, other, risk factor 25.7 102569 chr10 127371830 127371830 T G rs7082982 LOC283038 0 0 0.007 0 0 0 0 2 0 0 1 0 3.076 102570 chr4 71265234 71265234 G A rs78698994 OPRPN Synonymous SNV A19A 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 1.629 102571 chr6 24596673 24596673 A G rs372167029 KIAA0319 Nonsynonymous SNV C32R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.1 102572 chr6 169622400 169622400 C T rs767259943 THBS2 Synonymous SNV T1055T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 102573 chr6 2895719 2895719 T C SERPINB9 Synonymous SNV Q110Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.432 102574 chr4 76489533 76489533 T C rs140756390 ODAPH Nonsynonymous SNV S93P 0.009 0.01 0.02 2 10 4 0.005 6 1 0 0 0 Benign 0.012 102575 chr7 138394395 138394395 A G rs138627775 ATP6V0A4 Synonymous SNV A801A 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.622 102576 chr6 31129642 31129642 A G rs2073722 TCF19 Synonymous SNV P219P 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 0.064 102577 chr6 18188196 18188196 G A rs754497835 KDM1B Synonymous SNV G249G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 102578 chr6 35050593 35050593 T C rs34422534 ANKS1A Synonymous SNV N945N 0.004 0.016 0.014 4 5 6 0.01 4 0 0 0 0 Benign 10.08 102579 chr6 35260700 35260700 G A rs35582935 ZNF76 Nonsynonymous SNV R403Q 0.004 0.016 0.014 4 5 6 0.01 4 0 0 0 0 7.367 102580 chr10 135012489 135012489 G A rs113502632 KNDC1 Nonsynonymous SNV R826H 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 8.495 102581 chr6 24825526 24825526 C T RIPOR2 Synonymous SNV E932E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 102582 chr10 135099015 135099015 C T TUBGCP2 Nonsynonymous SNV E484K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 102583 chr6 33632865 33632865 C A ITPR3 Synonymous SNV A428A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.913 102584 chr5 176084534 176084534 T C TSPAN17 Synonymous SNV D209D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.012 102585 chr4 80905989 80905989 G C rs534683576 ANTXR2 Nonsynonymous SNV A357G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 13.44 102586 chr10 135278258 135278264 GTGGGGA - rs201116131 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 102587 chr18 67562982 67562982 C T rs146723371 CD226 Nonsynonymous SNV A73T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.204 102588 chr6 39016661 39016661 C T rs532333938 GLP1R Synonymous SNV L15L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.72 102589 chr18 67718782 67718785 TATC - rs776321170 RTTN D817_K818delinsE 0.001 0 0 0 1 0 0 0 0 0 0 0 102590 chr6 26251991 26251991 A C H2BC9 Nonsynonymous SNV Y38S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 102591 chr10 15726041 15726041 T G rs137978323 ITGA8 Nonsynonymous SNV N177T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.4 102592 chr6 41309606 41309606 C T rs371688409 NCR2 Nonsynonymous SNV P157S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.268 102593 chr10 17110639 17110639 T C rs148869805 CUBN Nonsynonymous SNV H919R 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.562 102594 chr6 37186394 37186394 A G rs150173395 TMEM217 Nonsynonymous SNV M138T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.59 102595 chr10 19636751 19636751 A G MALRD1 Nonsynonymous SNV Q1318R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 102596 chr6 38816505 38816505 C T rs61748643 DNAH8 Synonymous SNV L1492L 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 Benign 13.52 102597 chr18 77457903 77457903 G A rs138457062 CTDP1 Nonsynonymous SNV R60Q 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 27.7 102598 chr7 148904547 148904547 A G rs1202418 ZNF282 Nonsynonymous SNV M273V 0.003 0 0.01 0 4 0 0 3 0 0 0 0 0.024 102599 chr19 422452 422452 G C rs61745908 SHC2 Synonymous SNV P438P 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 0.084 102600 chr19 549077 549077 C T rs59235301 GZMM Synonymous SNV L129L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.906 102601 chr6 41318578 41318578 T C rs115509322 NCR2 Synonymous SNV D269D 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 0.007 102602 chr6 42073759 42073759 G A rs34879933 C6orf132 Nonsynonymous SNV L631F 0.024 0.026 0.014 6 28 10 0.015 4 0 0 0 0 15.97 102603 chr6 33703220 33703220 T C rs148097111 IP6K3 Nonsynonymous SNV M12V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 102604 chr6 34208614 34208614 C T rs11266792 HMGA1 Synonymous SNV D19D 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 14.47 102605 chr6 4735034 4735034 G A rs750626007 CDYL Nonsynonymous SNV V48M 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 3.31 102606 chr10 30653319 30653319 T G rs2255854 GOLGA2P6 0 0 0.058 0 0 0 0 17 0 0 6 0 0.123 102607 chr6 43019395 43019395 C T rs192945321 CUL7 Synonymous SNV T313T 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign 11.21 102608 chr17 40723572 40723572 G A rs759537997 MLX Nonsynonymous SNV R199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 102609 chr19 3543412 3543412 G A rs774449107 C19orf71 Nonsynonymous SNV R88H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 102610 chr6 43039978 43039978 G T rs57512910 KLC4 Synonymous SNV L414L 0.006 0 0 0 7 0 0 0 0 0 0 0 8.093 102611 chr6 43128519 43128519 G A rs34865794 PTK7 Nonsynonymous SNV R908Q 0.01 0.005 0.014 3 12 2 0.008 4 0 0 0 0 23.3 102612 chr6 43250515 43250515 G A rs55968848 TTBK1 Synonymous SNV V679V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 2.934 102613 chr5 31526741 31526741 G A rs199846087 DROSHA Nonsynonymous SNV P100L 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 24.1 102614 chr6 43306510 43306510 T C rs7742660 ZNF318 Synonymous SNV E1742E 0.006 0 0 0 7 0 0 0 0 0 0 0 6.029 102615 chr6 43475195 43475195 G A rs61746927 LRRC73 Synonymous SNV S293S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.591 102616 chr6 43487842 43487842 C T rs148385032 POLR1C Nonsynonymous SNV R141C 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 102617 chr6 43573054 43573054 G C POLH Nonsynonymous SNV D234H 0.006 0 0 0 7 0 0 0 0 0 0 0 22.8 102618 chr17 41720983 41720983 C T rs780617773 MEOX1 Nonsynonymous SNV R172H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 102619 chr6 36339136 36339136 G A rs2234079 ETV7 Nonsynonymous SNV P61L 0.021 0.034 0.014 6 25 13 0.015 4 0 0 0 0 10.3 102620 chr6 43608166 43608166 C T rs35316205 MAD2L1BP Synonymous SNV L241L 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 13.28 102621 chr6 43642947 43642947 T C rs140706518 MRPS18A Synonymous SNV Q146Q 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.028 102622 chr6 5085800 5085800 G C PPP1R3G Synonymous SNV L27L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 5.446 102623 chr19 1068652 1068652 G A rs117640500 ARHGAP45 Synonymous SNV P126P 0.005 0.005 0.003 2 6 2 0.005 1 1 0 0 0 5.565 102624 chr6 37445413 37445413 C G rs147375358 CMTR1 Synonymous SNV V717V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 102625 chr5 35763802 35763802 A T rs200721416 SPEF2 Nonsynonymous SNV M1267L 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 22.8 102626 chr7 155532519 155532519 G A rs571310218 RBM33 Synonymous SNV P616P 0.005 0 0 3 6 0 0.008 0 0 0 0 0 6.989 102627 chr7 155532534 155532545 CCCACCCCAGCA - rs756497414 RBM33 P630_H633del 0.005 0 0 4 6 0 0.01 0 0 0 0 0 102628 chr5 112884248 112884248 A G rs144202778 YTHDC2 Synonymous SNV R202R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.625 102629 chr6 39281916 39281916 C T rs61748648 KCNK17 Nonsynonymous SNV E61K 0.014 0.018 0.01 0 16 7 0 3 0 0 0 0 Benign 17.89 102630 chr6 46976764 46976764 T G rs73736331 ADGRF1 Nonsynonymous SNV T803P 0.009 0.003 0 0 11 1 0 0 0 0 0 0 Benign 26.8 102631 chr5 37221448 37221448 T C CPLANE1 Synonymous SNV V908V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.734 102632 chr5 115177805 115177805 - GAAGATACACAACAGCAAATCATCAGG AP3S1 0.014 0.013 0 4 17 5 0.01 0 0 0 0 0 102633 chr5 38886186 38886186 T C rs771250357 OSMR Synonymous SNV N295N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 102634 chr6 41117421 41117421 A G TREML1 Nonsynonymous SNV F175S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 102635 chr19 4511890 4511890 G A rs200897749 PLIN4 Synonymous SNV T694T 0.009 0.018 0.003 6 11 7 0.015 1 0 0 0 0 8.646 102636 chr6 41754852 41754852 C A PRICKLE4 Nonsynonymous SNV H380Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.2 102637 chr6 57012694 57012694 G T rs753184680 ZNF451 Nonsynonymous SNV G604V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26 102638 chr19 2115282 2115282 G A rs760842123 AP3D1 Nonsynonymous SNV T762M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 102639 chr5 121739555 121739555 G C SNCAIP Nonsynonymous SNV R42T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.54 102640 chr5 1221378 1221378 G A rs142269451 SLC6A19 Nonsynonymous SNV V551M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 102641 chr10 50376004 50376004 A G rs61748312 TMEM273 Nonsynonymous SNV V16A 0.026 0.013 0.014 3 30 5 0.008 4 1 0 0 0 15.43 102642 chr19 5215421 5215421 G A rs116565182 PTPRS Synonymous SNV S952S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.456 102643 chr6 51918850 51918850 C T rs143226202 PKHD1 Synonymous SNV R650R 0.003 0 0 8 4 0 0.021 0 0 0 0 0 Benign/Likely benign 8.522 102644 chr5 125880710 125880710 T C rs61757684 ALDH7A1 Nonsynonymous SNV T459A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 26.9 102645 chr10 50713991 50713991 T C rs764842788 ERCC6 Nonsynonymous SNV S489G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 102646 chr6 5404899 5404899 C T rs116567033 FARS2 Nonsynonymous SNV T246M 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 Benign/Likely benign 25.5 102647 chr6 56965541 56965541 A G rs752813663 ZNF451 Synonymous SNV Q109Q 0.006 0.008 0 0 7 3 0 0 0 0 0 0 13.58 102648 chr5 131926920 131926920 G A rs776949511 RAD50 Nonsynonymous SNV R486H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.9 102649 chr6 54805279 54805279 C T rs115872183 FAM83B Nonsynonymous SNV H504Y 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 9.752 102650 chr6 44900467 44900467 C T rs146594864 SUPT3H Nonsynonymous SNV D127N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.77 102651 chr17 48618360 48618373 CACAAACTCCCCAG - rs753508796 EPN3 K397Wfs*3 0.002 0 0.007 0 2 0 0 2 0 0 0 0 102652 chr7 25175885 25175885 T C rs34005449 C7orf31 Synonymous SNV K493K 0.029 0.031 0.01 4 34 12 0.01 3 0 0 0 0 0.002 102653 chr7 25207963 25207963 G A rs3213642 C7orf31 Nonsynonymous SNV R86C 0.036 0.034 0.017 7 42 13 0.018 5 0 0 0 0 7.837 102654 chr5 133900231 133900231 G A rs370730516 JADE2 Synonymous SNV S300S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.81 102655 chr6 56484161 56484161 C A rs760185197 DST Nonsynonymous SNV R1557S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 11.93 102656 chr10 61043173 61043173 G A rs374540049 FAM13C Nonsynonymous SNV P181L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 102657 chr17 56403682 56403682 C T rs556087784 TSPOAP1 Nonsynonymous SNV R181Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.1 102658 chr7 27182798 27182798 A T rs750919367 HOXA5 Synonymous SNV V143V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 102659 chr17 57134297 57134297 G A rs751146562 TRIM37 Nonsynonymous SNV R226C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 34 102660 chr19 7964899 7964899 G A rs753534988 LRRC8E Nonsynonymous SNV E369K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 102661 chr6 88854082 88854082 G A rs144233963 CNR1 Synonymous SNV H304H 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 Benign 0.683 102662 chr6 52285229 52285229 T A rs775530837 EFHC1 Nonsynonymous SNV H7Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.007 102663 chr19 5151384 5151384 G C rs201917119 KDM4B Synonymous SNV S1051S 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 0.936 102664 chr19 5749139 5749139 G A rs371150801 CATSPERD Nonsynonymous SNV R311Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.312 102665 chr19 5784012 5784012 G A rs376319245 PRR22 Synonymous SNV I82I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.216 102666 chr5 139725589 139725589 G A rs139432818 HBEGF Nonsynonymous SNV P43S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 12.82 102667 chr5 139781581 139781581 C T ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV T10I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 102668 chr10 71164811 71164811 C T rs61732393 TACR2 Nonsynonymous SNV R323H 0.014 0.018 0.014 2 16 7 0.005 4 0 0 0 0 Benign 23.6 102669 chr19 8455235 8455235 T C RAB11B-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14 102670 chr5 1406375 1406375 C T rs6880875 SLC6A3 Synonymous SNV Q509Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.65 102671 chr7 100189325 100189325 C T rs199618909 FBXO24 Nonsynonymous SNV R108C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 102672 chr10 73269686 73269686 C A rs115584464 CDH23-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 7.799 102673 chr10 73269719 73269719 C T rs116150071 CDH23-AS1 0.002 0 0.01 0 2 0 0 3 0 0 0 0 7.875 102674 chr19 8997507 8997507 G A MUC16 Nonsynonymous SNV L13639F 0.013 0.016 0 5 15 6 0.013 0 0 0 0 0 13.46 102675 chr10 73269866 73269866 A G rs61732490 CDH23 Nonsynonymous SNV Q58R 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign/Likely benign 13 102676 chr10 73269897 73269897 C T rs116624130 CDH23 Synonymous SNV G68G 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign/Likely benign 18.83 102677 chr7 38781600 38781600 T C rs17171456 VPS41 Synonymous SNV Q723Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.445 102678 chr6 87966523 87966523 A G rs200889439 ZNF292 Nonsynonymous SNV N1059S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.001 102679 chr19 7584483 7584483 A C rs78214445 ZNF358 Nonsynonymous SNV K119Q 0.019 0.021 0.02 8 22 8 0.021 6 1 0 0 0 6.097 102680 chr5 140794851 140794851 G C rs186109113 PCDHGA10 Synonymous SNV A703A 0.008 0.008 0.01 8 9 3 0.021 3 0 0 0 0 6.658 102681 chr10 73565712 73565712 G A rs201733315 CDH23 Synonymous SNV Q434Q 0.009 0 0.007 3 11 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.07 102682 chr6 7189523 7189523 C T rs138849531 RREB1 Synonymous SNV G131G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.25 102683 chr10 74096385 74096385 G A rs41282264 DNAJB12 Synonymous SNV F301F 0.013 0.023 0.02 9 15 9 0.023 6 0 0 0 0 14.42 102684 chr10 74803701 74803701 T G rs199692375 P4HA1 Synonymous SNV T364T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.29 102685 chr5 79031989 79031989 G A rs765676939 CMYA5 Synonymous SNV L2467L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.245 102686 chr10 7759650 7759650 G A rs138977046 ITIH2 Nonsynonymous SNV V177M 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 24.9 102687 chr17 72211829 72211829 A G rs117445407 TTYH2 Nonsynonymous SNV Y15C 0.009 0.013 0.003 0 11 5 0 1 0 0 0 0 3.928 102688 chr10 81318681 81318681 G A rs150273659 SFTPA2 Nonsynonymous SNV R95C 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.52 102689 chr6 76373100 76373100 T C SENP6 Nonsynonymous SNV I280T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 102690 chr6 7910870 7910870 - CCG rs534980705 TXNDC5 A46_D47insA 0.004 0.008 0.007 8 5 3 0.021 2 0 0 0 0 102691 chr19 9057515 9057517 TGT - MUC16 T9977del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 102692 chr6 83848635 83848635 C G DOP1A Nonsynonymous SNV S1616C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 102693 chr6 86256912 86256912 C T rs747621995 SNX14 Synonymous SNV E298E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 102694 chr6 88757663 88757663 A C rs61729414 SPACA1 Nonsynonymous SNV M14L 0.005 0 0.01 0 6 0 0 3 0 0 0 0 0.058 102695 chr5 96139444 96139444 A G ERAP1 Synonymous SNV H62H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.942 102696 chr5 149456966 149456966 A G rs374353325 CSF1R Synonymous SNV N254N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.429 102697 chr7 50530987 50530987 C T rs11575542 DDC Nonsynonymous SNV R384Q 0.017 0.016 0.017 10 20 6 0.026 5 0 0 0 0 Benign 7.245 102698 chr7 50607694 50607694 G A rs11575302 DDC Synonymous SNV A78A 0.018 0.016 0.017 10 21 6 0.026 5 0 0 0 0 Benign 16.01 102699 chr17 73750806 73750806 C G ITGB4 Nonsynonymous SNV R1420G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 102700 chr5 149677150 149677150 G A rs780145423 ARSI Nonsynonymous SNV P446L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.64 102701 chr6 10671764 10671764 G A rs3737278 C6orf52 Synonymous SNV Y128Y 0.009 0.005 0.014 8 10 2 0.021 4 1 0 0 0 10.42 102702 chr6 10751379 10751379 C T rs1046427 TMEM14B Synonymous SNV S27S 0.011 0.008 0.014 8 13 3 0.021 4 0 0 0 0 12.67 102703 chr19 9204427 9204427 C T rs143401934 OR1M1 Synonymous SNV C169C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 102704 chr17 74071091 74071091 A C rs778536806 GALR2 Nonsynonymous SNV N43H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 102705 chr7 100859234 100859234 G A rs35159414 PLOD3 Synonymous SNV D190D 0.014 0.01 0.007 7 16 4 0.018 2 0 0 0 0 Benign 4.213 102706 chr6 112405400 112405400 T C TUBE1 Nonsynonymous SNV K68E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 102707 chr6 112471715 112471715 C T rs146868519 LAMA4 Nonsynonymous SNV R724K 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.306 102708 chr7 100547295 100547295 C G MUC3A Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.2 102709 chr5 153029912 153029912 C T GRIA1 Synonymous SNV V81V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 102710 chr19 11322471 11322471 G A rs765850523 DOCK6 Nonsynonymous SNV L1578F 0.003 0 0 3 4 0 0.008 0 0 0 0 0 28.2 102711 chr5 159520042 159520042 C A rs774513649 PWWP2A Nonsynonymous SNV D539Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 102712 chr7 75614376 75614376 G T POR Stop gain E417X 0.003 0 0 2 4 0 0.005 0 0 0 0 0 37 102713 chr7 75689735 75689735 T C MDH2 Synonymous SNV H51H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.037 102714 chr7 75959533 75959533 C T YWHAG Synonymous SNV E35E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 102715 chr7 76054389 76054389 G C rs117869702 ZP3 Nonsynonymous SNV E36D 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Benign 0.025 102716 chr5 16754992 16754992 G A MYO10 Nonsynonymous SNV T625M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 102717 chr7 77256953 77256953 C T PTPN12 Nonsynonymous SNV H523Y 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.7 102718 chr19 10071183 10071183 C T rs144662581 COL5A3 Synonymous SNV A1714A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.58 102719 chr7 123222137 123222137 T C rs184260455 NDUFA5 0.032 0.021 0.034 16 38 8 0.041 10 2 0 1 1 5.944 102720 chr19 14910752 14910752 A G rs145774543 OR7C1 Nonsynonymous SNV L66P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.8 102721 chr5 169410130 169410130 C T rs35395501 DOCK2 Nonsynonymous SNV S953F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.4 102722 chr7 100695140 100695140 G A rs6946812 MUC17 Nonsynonymous SNV D4334N 0.022 0.039 0.014 9 26 15 0.023 4 0 0 0 0 3.795 102723 chr7 102584886 102584886 A C LRRC17 Synonymous SNV G386G 0.004 0 0 4 5 0 0.01 0 0 0 0 0 1.794 102724 chr5 172518262 172518262 C T rs758236862 CREBRF Synonymous SNV D360D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 102725 chr7 1028376 1028376 C T rs149976257 CYP2W1 Nonsynonymous SNV P464L 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 13.71 102726 chr19 11039545 11039545 A G TIMM29 Nonsynonymous SNV E16G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.64 102727 chr17 79687145 79687145 G A rs192259067 SLC25A10 Synonymous SNV T273T 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 Benign 4.9 102728 chr7 107575866 107575866 G A rs11545309 LAMB1 Synonymous SNV A1394A 0.025 0.018 0.034 6 29 7 0.015 10 1 0 0 0 Benign 6.874 102729 chr6 136888889 136888889 A G rs56379668 MAP3K5 Nonsynonymous SNV I1214T 0.003 0.005 0.014 3 3 2 0.008 4 0 0 0 0 8.182 102730 chr7 107114588 107114588 C T rs141612463 GPR22 Nonsynonymous SNV T28I 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 11.47 102731 chr6 136913664 136913664 C T rs117127910 MAP3K5 Synonymous SNV T989T 0.003 0.005 0.014 3 3 2 0.008 4 0 0 0 0 17.24 102732 chr6 13807220 13807220 A G rs141658121 MCUR1 Nonsynonymous SNV S158P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.17 102733 chr19 12692000 12692000 C T rs372080877 ZNF490 Nonsynonymous SNV E297K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 102734 chr11 104900622 104900622 A G rs766419133 CASP1 Nonsynonymous SNV M190T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 102735 chr19 13264612 13264612 C T IER2 Synonymous SNV P204P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 102736 chr7 96653684 96653684 G C rs61753628 DLX5 Synonymous SNV A84A 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Benign 14.17 102737 chr19 14557324 14557324 G A rs765137240 PKN1 Synonymous SNV A187A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.7 102738 chr6 146207587 146207587 - A rs779986457 LOC100507557 0.003 0 0 2 3 0 0.005 0 0 0 0 0 102739 chr7 97857387 97857387 C T rs201936543 TECPR1 Nonsynonymous SNV V818M 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 25.1 102740 chr11 1096498 1096498 C T rs185444867 MUC2 Nonsynonymous SNV R2175C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 102741 chr7 121691492 121691492 A C rs550220639 PTPRZ1 Nonsynonymous SNV Q1165P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 25.8 102742 chr5 179105652 179105652 T C CBY3 Nonsynonymous SNV M221V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.135 102743 chr7 121691493 121691493 G T rs140519629 PTPRZ1 Nonsynonymous SNV Q1165H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.4 102744 chr5 179251190 179251190 G A rs370203737 SQSTM1 Synonymous SNV S180S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 6.661 102745 chr5 179407158 179407158 T C rs72813783 RNF130 Nonsynonymous SNV T246A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 18.37 102746 chr6 149826713 149826713 T C rs142828926 PPIL4 Nonsynonymous SNV H452R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.758 102747 chr7 100685021 100685021 A G MUC17 Nonsynonymous SNV I3442V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 102748 chr7 102098177 102098177 C T rs138324715 ALKBH4 Synonymous SNV L191L 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 13.15 102749 chr7 102105566 102105566 G A rs79978502 LRWD1 Synonymous SNV G13G 0.023 0.018 0.048 13 27 7 0.033 14 0 0 0 0 12.8 102750 chr5 180277428 180277428 T C rs757108956 ZFP62 Nonsynonymous SNV K356R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.99 102751 chr19 15228749 15228749 G T ILVBL Synonymous SNV R377R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 102752 chr8 103372833 103372833 G T rs143719892 UBR5 Nonsynonymous SNV P84T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.5 102753 chr7 127991262 127991262 G A rs75191863 PRRT4 Nonsynonymous SNV P783L 0.025 0.018 0.017 15 29 7 0.038 5 0 1 0 0 0.004 102754 chr19 15758064 15758064 C T rs200536182 CYP4F3 Nonsynonymous SNV T152M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 31 102755 chr8 10464916 10464916 G A rs758645189 RP1L1 Nonsynonymous SNV P2231L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 102756 chr11 114577567 114577567 C T rs118134956 NXPE2 Nonsynonymous SNV T532M 0.009 0.008 0.02 7 10 3 0.018 6 0 0 1 0 27.9 102757 chr7 128494510 128494510 A G rs34422412 FLNC Synonymous SNV P2224P 0.014 0.008 0.003 3 16 3 0.008 1 0 0 0 0 Benign 8.28 102758 chr7 110762848 110762848 G A rs200480823 LRRN3 Nonsynonymous SNV R7Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.261 102759 chr7 128587345 128587359 GCCGCCCACTCTGCA - rs756537030 IRF5 Q170_L174del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 102760 chr7 128864940 128864940 C G rs759520658 AHCYL2 Nonsynonymous SNV A8G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 102761 chr19 16339700 16339700 C T rs775130446 AP1M1 Synonymous SNV P336P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.78 102762 chr7 117250575 117250575 G C rs1800111 CFTR Nonsynonymous SNV L997F 0.014 0.018 0.01 11 16 7 0.028 3 0 0 0 0 Conflicting interpretations of pathogenicity 17.21 102763 chr11 118250371 118250371 A G rs143573037 UBE4A Synonymous SNV L594L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.895 102764 chr19 16625432 16625432 C T rs763650806 C19orf44 Synonymous SNV D588D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.61 102765 chr8 110406671 110406671 T A rs73309421 PKHD1L1 Nonsynonymous SNV F256L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.92 102766 chr11 118427727 118427727 G A rs142901726 IFT46 Nonsynonymous SNV R27W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22 102767 chr8 110406677 110406677 T A rs73309424 PKHD1L1 Synonymous SNV S258S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.755 102768 chr8 110437443 110437443 T C rs16879534 PKHD1L1 Nonsynonymous SNV Y943H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.1 102769 chr8 110441582 110441582 A G rs73307391 PKHD1L1 Nonsynonymous SNV N1005S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.08 102770 chr5 37061090 37061090 G C rs115668015 NIPBL Synonymous SNV V2610V 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 Benign/Likely benign 9.724 102771 chr8 110464352 110464352 G C rs746166939 PKHD1L1 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 102772 chr8 110476453 110476453 T C rs115414288 PKHD1L1 Synonymous SNV H2464H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.029 102773 chr7 142962221 142962221 C G rs140666496 GSTK1 Synonymous SNV T140T 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 7.446 102774 chr7 134719494 134719494 C T AGBL3 Synonymous SNV N384N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.774 102775 chr8 110503206 110503206 A G rs28637504 PKHD1L1 Synonymous SNV Q3330Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.773 102776 chr18 12254828 12254828 C T rs45593632 CIDEA Nonsynonymous SNV R5W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.703 102777 chr8 110587222 110587222 A G rs35039797 SYBU Synonymous SNV P505P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.026 102778 chr5 40854182 40854182 C A rs548025252 CARD6 Synonymous SNV V916V 0 0.005 0 0 0 2 0 0 0 0 0 0 13.5 102779 chr6 155761166 155761166 C T rs117412760 NOX3 Nonsynonymous SNV A198T 0.02 0.013 0.02 10 24 5 0.026 6 0 0 0 0 23.5 102780 chr6 157099409 157099426 CAGCAGCAGCAGCAGCAA - rs768349133 ARID1B Q126_Q131del 0 0 0 1 0 0 0.003 0 0 0 0 0 102781 chr19 17394375 17394375 G C rs138078858 ANKLE1 Nonsynonymous SNV E257Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.6 102782 chr5 41042274 41042274 A G rs200631985 MROH2B Nonsynonymous SNV C625R 0 0.005 0 0 0 2 0 0 0 0 0 0 20.9 102783 chr7 128477753 128477753 G A FLNC Nonsynonymous SNV A305T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 102784 chr11 123777296 123777296 G A rs201007236 OR8D4 Nonsynonymous SNV R53H 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 13.9 102785 chr7 141869898 141869898 G A rs942305204 MGAM2 Synonymous SNV R1017R 0.007 0.005 0 2 8 2 0.005 0 1 0 0 0 10.92 102786 chr6 160506151 160506151 C T IGF2R Synonymous SNV L2065L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.2 102787 chr18 32392010 32392010 C T rs752144270 DTNA Nonsynonymous SNV T179M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 23.1 102788 chr18 33289710 33289710 C T rs768559745 GALNT1 Synonymous SNV N552N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.17 102789 chr5 55204248 55204248 G A rs373441093 IL31RA Nonsynonymous SNV A504T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.975 102790 chr19 19153536 19153536 G A rs761863352 ARMC6 Nonsynonymous SNV G16S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.11 102791 chr5 60628154 60628183 GGCGGCGGCGGCGGCGGCGGGGGCAGCAGC - rs749694145 ZSWIM6 G24_G33del 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 102792 chr19 21476858 21476858 C T rs149735807 ZNF708 Nonsynonymous SNV G240R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 102793 chr11 126075452 126075452 C T rs759782359 RPUSD4 Nonsynonymous SNV R236H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.019 102794 chr19 36223648 36223648 C T rs199751073 KMT2B Synonymous SNV D2066D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.972 102795 chr18 48331563 48331563 G A rs372663437 MRO Synonymous SNV F130F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.95 102796 chr6 17629629 17629629 A G rs141169660 NUP153 Nonsynonymous SNV I892T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 2.865 102797 chr7 150696066 150696066 C T rs9282803 NOS3 Synonymous SNV N283N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 9.956 102798 chr5 74096834 74096834 G T rs756307572 FAM169A Nonsynonymous SNV S325Y 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 25.7 102799 chr6 24145952 24145952 C T rs144963338 NRSN1 Synonymous SNV L122L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 13.6 102800 chr7 154862909 154862909 C T rs6319 HTR5A Synonymous SNV H100H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 15.03 102801 chr7 150768569 150768569 C T rs780670662 SLC4A2 Nonsynonymous SNV R681W 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 29.3 102802 chr7 142609821 142609821 T A rs747614335 TRPV5 Nonsynonymous SNV T539S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 102803 chr7 142723852 142723852 C T rs746450916 OR9A2 Nonsynonymous SNV C123Y 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 23.7 102804 chr7 142723853 142723853 A T rs770397800 OR9A2 Nonsynonymous SNV C123S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 14.17 102805 chr19 33687653 33687653 G A rs745454473 LRP3 Nonsynonymous SNV G31R 0.002 0 0 0 2 0 0 0 0 0 0 0 32 102806 chr5 75967720 75967720 G A rs138211969 IQGAP2 Nonsynonymous SNV D490N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 102807 chr18 58038700 58038700 A G rs368264587 MC4R Nonsynonymous SNV S295P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 102808 chr19 38057194 38057194 C A ZNF571 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.4 102809 chr8 144651700 144651700 C A rs761282800 MROH6 Nonsynonymous SNV A463S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 8.376 102810 chr11 17667395 17667395 G A rs542151771 OTOG Synonymous SNV L2894L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 10.82 102811 chr7 20420367 20420367 G C rs370739263 ITGB8 Nonsynonymous SNV E238D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.74 102812 chr7 20441397 20441397 A C rs61757103 ITGB8 Nonsynonymous SNV K445N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 13.82 102813 chr18 61233975 61233975 A G rs901908309 SERPINB12 Nonsynonymous SNV M337V 0.003 0 0 0 4 0 0 0 0 0 0 0 21.6 102814 chr5 7866901 7866901 C A rs140517837 FASTKD3 Synonymous SNV L432L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 14.38 102815 chr6 27277529 27277529 T C rs769362680 POM121L2 Synonymous SNV A807A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.334 102816 chr19 36168738 36168738 G A rs200968025 UPK1A Nonsynonymous SNV A225T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 102817 chr11 18739568 18739568 G A rs116943882 IGSF22 Synonymous SNV L295L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 10.7 102818 chr19 36213284 36213284 G A rs778389846 KMT2B Synonymous SNV E827E 0.003 0 0 0 4 0 0 0 0 0 0 0 0.449 102819 chr7 22355069 22355069 T C rs181819502 RAPGEF5 Synonymous SNV A103A 0.017 0.021 0.017 30 20 8 0.077 5 0 0 0 1 15.27 102820 chr7 149477180 149477180 C T rs762077688 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 102821 chr6 28228193 28228193 A T NKAPL Nonsynonymous SNV R348S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 102822 chr19 36499577 36499577 G A rs373148223 SYNE4 Synonymous SNV L3L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 15.68 102823 chr7 2406007 2406007 A G rs199814936 EIF3B Nonsynonymous SNV I405V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 15.27 102824 chr6 28359430 28359430 A G rs374479373 ZSCAN12 Nonsynonymous SNV F213L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.042 102825 chr5 80168964 80168964 A T MSH3 Nonsynonymous SNV T1054S 0 0.003 0 0 0 1 0 0 0 0 0 0 26 102826 chr7 24905778 24905778 T C rs200216371 OSBPL3 Nonsynonymous SNV M154V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.687 102827 chr5 89815108 89815108 G T rs62375061 LYSMD3 Nonsynonymous SNV S150Y 0.004 0.013 0.007 1 5 5 0.003 2 0 0 0 0 10.12 102828 chr6 33690860 33690860 A G IP6K3 Synonymous SNV N290N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.193 102829 chr18 74580815 74580815 A G rs142780029 ZNF236 Nonsynonymous SNV I180V 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 5.109 102830 chr6 34826145 34826145 A G UHRF1BP1 Nonsynonymous SNV Q671R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.07 102831 chr18 74728772 74728772 A G rs142907876 MBP X198Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.883 102832 chr5 93077093 93077093 G A rs138308146 POU5F2 Synonymous SNV D59D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 6.011 102833 chr7 150933574 150933574 C T rs150602051 CHPF2 Synonymous SNV F303F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.17 102834 chr18 77170498 77170498 T G rs140711063 NFATC1 Nonsynonymous SNV S75A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 102835 chr18 77227473 77227473 G A rs25658 NFATC1 Synonymous SNV P189P 0.009 0 0 0 10 0 0 0 0 0 0 0 9.3 102836 chr7 27824870 27824870 T C rs763790831 TAX1BP1 Nonsynonymous SNV L77P 0.002 0 0 0 2 0 0 0 0 0 0 0 30 102837 chr19 38956779 38956779 C T rs139363830 RYR1 Synonymous SNV H973H 0.007 0.016 0.007 3 8 6 0.008 2 0 0 0 0 Benign/Likely benign 16.44 102838 chr11 28499087 28499087 G A rs78258445 MIR8068 0 0 0.014 0 0 0 0 4 0 0 0 0 3.255 102839 chr19 38973933 38973933 A G rs146429605 RYR1 Nonsynonymous SNV I1571V 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.864 102840 chr7 27282894 27282894 C T rs776078595 EVX1 Nonsynonymous SNV A82V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 17.16 102841 chr19 42397363 42397363 C T rs782631572 ARHGEF1 Synonymous SNV D178D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.67 102842 chr19 39009932 39009932 G A rs137932199 RYR1 Nonsynonymous SNV R3366H 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 102843 chr19 39034191 39034191 A G rs147136339 RYR1 Nonsynonymous SNV Y3928C 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 102844 chr19 694838 694838 G A rs551805709 PRSS57 Nonsynonymous SNV S70L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.1 102845 chr6 38810553 38810553 C T DNAH8 Synonymous SNV A1356A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.15 102846 chr19 42795539 42795539 C T rs767836880 CIC Synonymous SNV N873N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.69 102847 chr19 806481 806481 G A rs142679178 PTBP1 Synonymous SNV A322A 0.013 0.018 0.014 5 15 7 0.013 4 0 0 0 0 8.475 102848 chr19 39303521 39303521 G A rs147217462 LGALS4 Synonymous SNV A2A 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 Likely benign 2.774 102849 chr19 39337970 39337970 C T rs149444364 HNRNPL Synonymous SNV E124E 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 15.08 102850 chr6 105824057 105824057 C A rs138316994 PREP Nonsynonymous SNV A110S 0 0.003 0 0 0 1 0 0 0 0 0 0 22 102851 chr19 1000823 1000823 C T rs756032796 GRIN3B Synonymous SNV S129S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.45 102852 chr7 39990681 39990681 G A rs17496130 CDK13 Synonymous SNV E147E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 3.591 102853 chr6 10802138 10802138 G A rs149734152 MAK Nonsynonymous SNV P273L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 102854 chr7 4169698 4169698 G A rs117468350 SDK1 Synonymous SNV T1366T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.57 102855 chr7 19748465 19748465 G A rs990861356 TWISTNB Synonymous SNV L59L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.16 102856 chr19 40741964 40741964 C T rs140538051 AKT2 Synonymous SNV L293L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.64 102857 chr11 377099 377099 C T rs1025308388 B4GALNT4 Nonsynonymous SNV A659V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.285 102858 chr8 21769432 21769432 A G rs56094005 DOK2 Nonsynonymous SNV L138S 0.011 0.018 0.024 9 13 7 0.023 7 0 0 0 0 24.9 102859 chr6 42858503 42858503 T C rs370729479 C6orf226 Synonymous SNV Q8Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.025 102860 chr7 43916973 43916973 T C rs2232106 URGCP Nonsynonymous SNV T688A 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 0.046 102861 chr7 44148573 44148576 TGAG - rs376965157 AEBP1 L339_K340delinsQ 0.005 0 0.003 0 6 0 0 1 0 0 0 0 102862 chr6 44337791 44337791 G A rs115704403 SPATS1 Synonymous SNV V233V 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 1.516 102863 chr19 44006342 44006342 C T rs76853904 PHLDB3 Nonsynonymous SNV G103R 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 Benign 9.602 102864 chr6 117128308 117128308 C T rs145460545 GPRC6A Nonsynonymous SNV R187Q 0.007 0.008 0.003 5 8 3 0.013 1 0 0 0 0 31 102865 chr19 1465475 1465475 G A APC2 Synonymous SNV A724A 0.003 0 0 0 4 0 0 0 0 0 0 0 11 102866 chr7 30490919 30490919 C T rs144684378 NOD1 Nonsynonymous SNV R705Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.541 102867 chr19 2878180 2878180 C T rs35724311 ZNF556 Synonymous SNV G407G 0.014 0.018 0.007 6 17 7 0.015 2 0 0 0 0 8.498 102868 chr6 126196056 126196056 A C rs759941790 NCOA7 Nonsynonymous SNV H98P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.52 102869 chr7 5410253 5410253 T C rs139524229 TNRC18 Synonymous SNV E1324E 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 0 Benign 0.008 102870 chr6 127836046 127836046 G A rs6925704 SOGA3 Synonymous SNV A416A 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 14.94 102871 chr7 48033993 48033993 A C rs147110748 SUN3 Synonymous SNV T260T 0.007 0.01 0 4 8 4 0.01 0 0 0 0 0 0.198 102872 chr6 130465702 130465702 - TTTC rs771958559 SAMD3 Frameshift insertion K533Rfs*37 0 0.003 0 0 0 1 0 0 0 0 0 0 102873 chr7 4856904 4856904 T C rs201312293 RADIL Nonsynonymous SNV Y565C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 25.5 102874 chr19 48184029 48184029 C A rs201151265 BICRA Synonymous SNV S534S 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 7.147 102875 chr6 5369322 5369322 G C rs147754364 FARS2 Synonymous SNV V173V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.339 102876 chr7 50680483 50680483 G A rs200525181 GRB10 Synonymous SNV D337D 0.003 0 0 0 3 0 0 0 0 0 0 0 4.425 102877 chr19 3907809 3907809 G A rs570425021 ATCAY Nonsynonymous SNV G146S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 102878 chr19 3959504 3959504 G A rs954890165 DAPK3 Synonymous SNV A320A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 102879 chr19 48800330 48800330 C T rs74351635 CCDC114 Nonsynonymous SNV S639N 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 Benign 23.5 102880 chr7 5401241 5401241 C T rs200928367 TNRC18 Nonsynonymous SNV G1549S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.6 102881 chr7 6661799 6661799 C T ZNF853 Synonymous SNV L378L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.763 102882 chr6 136787901 136787901 T C rs554599898 MAP7 Nonsynonymous SNV Y7C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.13 102883 chr6 13711707 13711718 GCGGCGGCGGCG - rs774930589 RANBP9 P7_P10del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 102884 chr19 46001932 46001932 G C rs564933218 PPM1N Nonsynonymous SNV G68R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 102885 chr6 13814405 13814405 C T MCUR1 Nonsynonymous SNV R86H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 102886 chr8 48641546 48641546 C G rs182240988 SPIDR Synonymous SNV L334L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.215 102887 chr19 46274629 46274629 C T rs765438132 DMPK Synonymous SNV R453R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.11 102888 chr7 44150770 44150770 G A rs376114999 AEBP1 Nonsynonymous SNV A550T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.794 102889 chr7 44260453 44260453 C T rs771606853 CAMK2B Nonsynonymous SNV V332I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 102890 chr7 76062913 76062913 C G rs139729790 ZP3 Nonsynonymous SNV P221R 0.01 0.016 0.01 2 12 6 0.005 3 0 0 0 0 Benign 14.64 102891 chr8 54792045 54792045 C A rs61754068 RGS20 Synonymous SNV L131L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 102892 chr6 7247212 7247212 - GGCCCCGGGTGCCGGGGA rs770592546 RREB1 P1463_A1464insGAGEAP 0.001 0 0 1 1 0 0.003 0 0 0 0 0 102893 chr19 4511791 4511791 A C rs62115193 PLIN4 Synonymous SNV T727T 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 0.003 102894 chr6 144178578 144178578 T G LTV1 Nonsynonymous SNV I179R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 102895 chr6 73000553 73000553 G A rs201739376 RIMS1 Synonymous SNV P600P 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 10.93 102896 chr8 59571829 59571829 C T rs114872292 NSMAF Nonsynonymous SNV R26Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 102897 chr8 61655037 61655037 A G rs200644351 CHD7 Nonsynonymous SNV N349S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 0.697 102898 chr7 72985627 72985627 T G rs141739395 TBL2 Nonsynonymous SNV E92A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 25 102899 chr19 47960525 47960525 C T rs151327151 SLC8A2 Synonymous SNV L334L 0.006 0 0.014 1 7 0 0.003 4 0 0 1 0 12.64 102900 chr7 6693519 6693519 G A rs972237400 ZNF316 Synonymous SNV A764A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.79 102901 chr6 150157345 150157345 G A rs72995588 LRP11 Synonymous SNV D376D 0.013 0.01 0.01 1 15 4 0.003 3 0 0 0 0 0.485 102902 chr19 48378086 48378086 T C rs139701933 SULT2A1 Synonymous SNV T191T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.077 102903 chr7 48016353 48016353 G T rs2307254 HUS1 Nonsynonymous SNV Q126K 0.01 0.018 0.007 2 12 7 0.005 2 0 1 0 0 0.039 102904 chr8 69046419 69046419 A T rs78101420 PREX2 Nonsynonymous SNV M1298L 0.005 0.013 0.003 2 6 5 0.005 1 0 0 0 0 16.77 102905 chr6 150390170 150390170 C T rs544365780 ULBP3 Synonymous SNV P11P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 102906 chr19 51021602 51021602 C A rs61753461 LRRC4B Synonymous SNV V456V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 9.248 102907 chr19 51051970 51051970 G A rs757490715 LRRC4B Synonymous SNV A42A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.49 102908 chr6 151673681 151673681 G A rs41289377 AKAP12 Synonymous SNV G1280G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 3.035 102909 chr19 51227689 51227689 C G CLEC11A Nonsynonymous SNV D119E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.4 102910 chr19 48956039 48956039 C T rs138248385 GRWD1 Synonymous SNV S366S 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 16.76 102911 chr19 48977479 48977479 C T rs61748773 CYTH2 Synonymous SNV N196N 0.018 0.005 0.02 7 21 2 0.018 6 0 0 0 0 12.78 102912 chr7 80088109 80088109 C A rs753220041 GNAT3 Stop gain E315X 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 45 102913 chr19 49206278 49206278 T C rs753899420 FUT2 Nonsynonymous SNV V22A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 102914 chr11 55432763 55432763 C A rs965193113 OR4C6 Nonsynonymous SNV L41I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.79 102915 chr7 7712945 7712956 AGCAGCAGCAGC - UMAD1 0 0.003 0 0 0 1 0 0 0 0 0 0 102916 chr19 49342473 49342473 C T PLEKHA4 Synonymous SNV G651G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.94 102917 chr19 7535169 7535169 C T rs559727272 ARHGEF18 Synonymous SNV D1115D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.12 102918 chr7 96635420 96635420 - GCCGCCGCC DLX6 P53_Q54insPPP 0.003 0.003 0 0 4 1 0 0 0 0 0 0 102919 chr6 157099402 157099402 - CAG rs587779743 ARID1B Q131_H132insQ 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 102920 chr6 158487595 158487595 G A SYNJ2 Nonsynonymous SNV V312M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 102921 chr8 98698942 98698942 A G MTDH Nonsynonymous SNV Q177R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 102922 chr7 100490810 100490810 G A rs144995873 ACHE Synonymous SNV N348N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.024 102923 chr19 8186254 8186254 G A rs117616097 FBN3 Synonymous SNV R1033R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 6.876 102924 chr19 8186255 8186255 C A rs117880701 FBN3 Nonsynonymous SNV R1033L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 21.4 102925 chr7 91631821 91631821 T C rs748910186 AKAP9 Synonymous SNV L864L 0.007 0.01 0 0 8 4 0 0 0 0 0 0 0.159 102926 chr8 104342150 104342150 C T rs201910779 FZD6 Synonymous SNV D298D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.11 102927 chr6 160230182 160230182 G A rs754866593 PNLDC1 Nonsynonymous SNV A259T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 102928 chr19 8576629 8576629 G T rs200518876 ZNF414 Nonsynonymous SNV P249H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 19.22 102929 chr8 10466938 10466938 G A rs745791302 RP1L1 Nonsynonymous SNV A1557V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.105 102930 chr7 73097274 73097274 C T rs782537359 DNAJC30 Synonymous SNV T160T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 102931 chr7 95222201 95222201 T C rs144262262 PDK4 Nonsynonymous SNV M134V 0.027 0.023 0.017 4 32 9 0.01 5 1 0 0 0 Benign 23 102932 chr7 73635050 73635050 G A rs200881614 LAT2 Synonymous SNV S106S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 102933 chr7 98460935 98460935 G A rs150023464 TMEM130 Synonymous SNV N58N 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 1.407 102934 chr19 51842357 51842357 C A rs192962117 VSIG10L Nonsynonymous SNV G505V 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 19.95 102935 chr11 56237890 56237890 G C OR5M3 Nonsynonymous SNV I28M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 102936 chr8 100994172 100994172 T C rs34200563 RGS22 Nonsynonymous SNV E937G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 29.9 102937 chr9 114820808 114820808 G T SUSD1 Nonsynonymous SNV P670H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 102938 chr8 116427160 116427160 C T rs201030937 TRPS1 Synonymous SNV P983P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.889 102939 chr8 116631902 116631902 C A rs7823278 TRPS1 Synonymous SNV P132P 0.003 0.003 0.007 2 3 1 0.005 2 0 0 1 0 Benign 13.46 102940 chr6 168376939 168377022 CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA - HGC6.3 V104_T131del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 102941 chr6 168377071 168377071 G A rs201618689 HGC6.3 Nonsynonymous SNV P88S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.456 102942 chr8 105521178 105521178 G T LRP12 Synonymous SNV I68I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.77 102943 chr6 169625430 169625430 G A rs376064660 THBS2 Synonymous SNV N861N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.2 102944 chr6 170058143 170058143 C G rs1037966348 WDR27 0 0.003 0 0 0 1 0 0 0 0 0 0 1.949 102945 chr7 87022347 87022347 A G rs139953270 CROT Nonsynonymous SNV N561S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.98 102946 chr6 170102269 170102269 C T rs762075813 C6orf120 Nonsynonymous SNV A4V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.644 102947 chr8 121354621 121354621 T C rs61733751 COL14A1 Synonymous SNV G1608G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 7.877 102948 chr8 109797221 109797221 G T rs200632995 TMEM74 Nonsynonymous SNV T36K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.065 102949 chr8 113275983 113275983 G A rs61754530 CSMD3 Synonymous SNV F3049F 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 12.8 102950 chr19 9075308 9075308 C A rs752557033 MUC16 Synonymous SNV G4046G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.098 102951 chr19 53122316 53122316 C G rs150757946 ZNF83 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 102952 chr7 91718797 91718797 G A AKAP9 Synonymous SNV R3104R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.774 102953 chr19 9452698 9452698 G A rs74575837 ZNF559 Nonsynonymous SNV E255K 0.02 0.01 0.02 6 23 4 0.015 6 0 0 0 0 18.6 102954 chr7 92826860 92826860 G C HEPACAM2 Stop gain S347X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 102955 chr8 126068967 126068967 C T rs750122277 WASHC5 Synonymous SNV L508L 0 0.008 0 2 0 3 0.005 0 0 0 0 0 Benign 14.29 102956 chr7 97822708 97822708 C A rs140700825 LMTK2 Nonsynonymous SNV S977R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 31 102957 chr8 131964167 131964167 C T rs78376023 ADCY8 Synonymous SNV E396E 0.008 0.005 0 7 9 2 0.018 0 0 0 0 0 14.15 102958 chr11 58920348 58920348 A G rs73491319 FAM111A Nonsynonymous SNV I403V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.941 102959 chr7 102106369 102106369 G A rs151171497 LRWD1 Synonymous SNV L62L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.65 102960 chr9 125377775 125377775 C T rs140000745 OR1Q1 Synonymous SNV G253G 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 12.34 102961 chr6 26271208 26271208 T C rs141036055 H3C8 Synonymous SNV R135R 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 1.976 102962 chr11 59244999 59245001 TTG - rs748031911 OR4D10 L33del 0 0 0.003 0 0 0 0 1 0 0 0 0 102963 chr11 59245001 59245001 - AAACCCACCAAA rs771962978 OR4D10 L33_V34insKPTK 0 0 0.003 0 0 0 0 1 0 0 0 0 102964 chr11 59245004 59245004 G C rs765275721 OR4D10 Synonymous SNV V34V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.708 102965 chr19 56200667 56200667 C T rs200478642 EPN1 Nonsynonymous SNV P203L 0.006 0.003 0.014 7 7 1 0.018 4 0 0 0 0 15.84 102966 chr11 59245006 59245006 A - rs773084968 OR4D10 Y35Lfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 102967 chr7 103293069 103293069 G C RELN Synonymous SNV L564L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.505 102968 chr8 100493904 100493904 A G rs16897391 VPS13B Synonymous SNV L1248L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 1.083 102969 chr8 100493997 100493997 C T rs34941871 VPS13B Synonymous SNV C1279C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 13.01 102970 chr8 100975171 100975171 T C rs73699897 RGS22 Synonymous SNV L1036L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.859 102971 chr8 12878967 12878967 C T TRMT9B Nonsynonymous SNV T134I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.79 102972 chr19 11350874 11350874 C T rs145464906 ANGPTL8 Stop gain Q121X 0.012 0.005 0.003 3 14 2 0.008 1 0 0 0 0 36 102973 chr6 27835287 27835287 G C H1-5 Synonymous SNV A7A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.058 102974 chr7 1097673 1097673 C T rs144384748 GPR146 Synonymous SNV R174R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.414 102975 chr8 133650246 133650246 C G rs762264378 LRRC6 Nonsynonymous SNV G40R 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 33 102976 chr11 60638462 60638462 G A rs759784256 ZP1 Nonsynonymous SNV V287I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 102977 chr8 133920516 133920516 G A rs16904786 TG Synonymous SNV A1311A 0.009 0.003 0.007 7 10 1 0.018 2 0 0 0 0 Likely benign 7.76 102978 chr8 133885334 133885334 G A rs756627185 TG Nonsynonymous SNV R169H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 102979 chr19 56732956 56732956 A G rs138110009 ZSCAN5A Synonymous SNV A376A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.204 102980 chr9 130588920 130588920 G A rs139398993 ENG Nonsynonymous SNV P131L 0.013 0.013 0.003 9 15 5 0.023 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.637 102981 chr8 143922583 143922583 C T rs373358231 GML Synonymous SNV N41N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.311 102982 chr11 61105503 61105503 C T TKFC Stop gain Q32X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 102983 chr11 61133604 61133604 C T rs145939072 TMEM138 Synonymous SNV N14N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.4 102984 chr11 61249898 61249898 G C PPP1R32 Nonsynonymous SNV R75S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 102985 chr19 13409407 13409407 C T rs16024 CACNA1A Nonsynonymous SNV E1015K 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.78 102986 chr11 61729810 61729810 G A BEST1 Nonsynonymous SNV G308D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 102987 chr7 123332846 123332846 G A WASL Nonsynonymous SNV P301L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 102988 chr8 108970336 108970336 G A rs34627831 RSPO2 Synonymous SNV C132C 0.011 0.005 0.007 2 13 2 0.005 2 0 0 0 0 Benign 5.418 102989 chr19 14000737 14000737 G C C19orf57 Nonsynonymous SNV P193R 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 6.067 102990 chr11 62289776 62289776 T C rs141451542 AHNAK Nonsynonymous SNV K4038R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.828 102991 chr11 6231210 6231210 G A rs144631019 C11orf42 Nonsynonymous SNV R68Q 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 102992 chr6 35096933 35096933 A G rs147549679 TCP11 Nonsynonymous SNV V55A 0.001 0.01 0 0 1 4 0 0 0 0 0 0 19.41 102993 chr7 128415785 128415785 C T rs150585695 OPN1SW Synonymous SNV P20P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.27 102994 chr6 35762937 35762937 G A rs41270082 CLPS Nonsynonymous SNV R68C 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 24 102995 chr8 144889103 144889103 C T rs782142620 SCRIB Synonymous SNV G753G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.02 102996 chr8 144351610 144351610 C T rs115428991 GLI4 Nonsynonymous SNV S15F 0.005 0.005 0 0 6 2 0 0 1 0 0 0 16.18 102997 chr7 129950826 129950826 C T rs147568416 CPA4 Synonymous SNV L298L 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 10.78 102998 chr19 15222191 15222191 G A rs140575092 SYDE1 Nonsynonymous SNV R386Q 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 24.1 102999 chr8 120569823 120569823 G A rs61738778 ENPP2 Nonsynonymous SNV R844C 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Benign 34 103000 chr11 62623017 62623017 C A rs2071035 SNHG1 0 0 0.065 0 0 0 0 19 0 0 1 0 8.705 103001 chr11 62623019 62623019 A G rs2071034 SNHG1 0 0 0.068 0 0 0 0 20 0 0 1 0 7.627 103002 chr11 62623051 62623051 T C rs1059292 SNHG1, SNORD25 0 0 0.068 0 0 0 0 20 0 0 1 0 6.971 103003 chr8 144644666 144644666 A G rs74645610 GSDMD Nonsynonymous SNV Q396R 0.006 0.005 0.003 0 7 2 0 1 1 0 0 0 Benign 0.003 103004 chr11 62623214 62623214 G A rs2269353 SNHG1 0 0 0.051 0 0 0 0 15 0 0 1 0 8.158 103005 chr19 56320369 56320369 G A rs749136672 NLRP11 Nonsynonymous SNV P437L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.002 103006 chr6 36976649 36976649 C A rs34617818 FGD2 Nonsynonymous SNV D36E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.002 103007 chr6 36981433 36981433 C T rs41272208 FGD2 Synonymous SNV F192F 0.001 0.01 0.003 4 1 4 0.01 1 0 0 0 0 15.96 103008 chr8 144658664 144658664 G A rs36121778 NAPRT Synonymous SNV D92D 0.006 0.008 0.01 0 7 3 0 3 1 0 0 0 Benign 9.858 103009 chr6 37426429 37426429 T C rs35608753 CMTR1 Synonymous SNV F273F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.829 103010 chr6 38743649 38743649 A G rs149534667 DNAH8 Synonymous SNV Q411Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 3.493 103011 chr8 144671955 144671955 C T rs61757370 EEF1D Synonymous SNV A99A 0.006 0.01 0.01 1 7 4 0.003 3 1 0 0 0 Benign 9.552 103012 chr8 144639895 144639895 G A rs138281819 LOC100310756 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 1.169 103013 chr9 135458338 135458338 G A rs373735108 BARHL1 Nonsynonymous SNV A52T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 103014 chr11 63992155 63992155 G A rs143200811 TRPT1 Nonsynonymous SNV P121L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.13 103015 chr8 145057898 145057900 TCC - rs781885315 PARP10 E632del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 103016 chr8 145095828 145095828 C A rs782028067 SPATC1 Nonsynonymous SNV L376M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.24 103017 chr8 145110068 145110068 C T rs200773486 OPLAH Nonsynonymous SNV R758H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 34 103018 chr8 145583064 145583064 G A SLC52A2 Synonymous SNV V37V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.06 103019 chr8 144994638 144994638 G A rs200895343 PLEC Synonymous SNV F3103F 0.005 0.013 0.003 0 6 5 0 1 1 0 0 0 Benign/Likely benign 1.811 103020 chr9 137582774 137582774 C T rs149369116 COL5A1 Synonymous SNV L42L 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.921 103021 chr8 145740359 145740359 C T rs367559988 RECQL4 Synonymous SNV T527T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 15.67 103022 chr11 65307026 65307026 G A LTBP3 Synonymous SNV P1043P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.691 103023 chr11 65352490 65352490 C T rs781520307 EHBP1L1 Synonymous SNV L363L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.65 103024 chr8 16921624 16921624 T G MICU3 Stop gain L138X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 103025 chr7 143085863 143085863 A C ZYX Nonsynonymous SNV T409P 0.006 0 0 2 7 0 0.005 0 0 0 0 0 26.2 103026 chr8 142175377 142175377 G A rs2289000 DENND3 Synonymous SNV S514S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.05 103027 chr6 43481331 43481331 G A YIPF3 Nonsynonymous SNV P146S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 103028 chr6 43484912 43484912 G A rs149529196 POLR1C Nonsynonymous SNV R22H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 103029 chr6 43485090 43485090 C T rs148236144 POLR1C Nonsynonymous SNV A39V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 103030 chr8 142432357 142432357 G A rs376532003 PTP4A3 Nonsynonymous SNV R6H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 103031 chr20 3735063 3735063 C T rs78285346 C20orf27 Synonymous SNV T160T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.4 103032 chr8 19362937 19362937 C T rs17128518 CSGALNACT1 Nonsynonymous SNV V137I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.25 103033 chr11 66109701 66109701 G C rs377244043 BRMS1 Nonsynonymous SNV P2R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 103034 chr8 145748621 145748621 G C rs376280133 LRRC24 Synonymous SNV P260P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.415 103035 chr8 2026978 2026978 G A rs200959191 MYOM2 Nonsynonymous SNV A476T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.71 103036 chr8 145749944 145749944 T G rs201975035 LRRC24 Nonsynonymous SNV S107R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.88 103037 chr11 66410940 66410940 G A rs187740636 RBM14-RBM4, RBM4 Synonymous SNV Q119Q 0.005 0.005 0.007 6 6 2 0.015 2 0 0 0 0 1.876 103038 chr8 21563499 21563499 G C rs553428283 GFRA2 Synonymous SNV T150T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 9.051 103039 chr8 146067354 146067354 C T rs138843934 ZNF7 Nonsynonymous SNV R192C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 103040 chr8 146157810 146157810 G A rs150028594 ZNF16 Synonymous SNV P121P 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 6.888 103041 chr19 18546125 18546125 C G rs140768810 ISYNA1 Nonsynonymous SNV V347L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21 103042 chr11 6738411 6738411 A G rs17262467 GVINP1 0 0 0.201 0 0 0 0 59 0 0 5 0 8.121 103043 chr8 22462131 22462131 C T rs761831040 LOC107986876 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.05 103044 chr20 2375205 2375205 A T rs144201778 TGM6 Nonsynonymous SNV S39C 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.82 103045 chr7 1542732 1542732 C T rs202230447 INTS1 Nonsynonymous SNV G52S 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 22.8 103046 chr8 2005591 2005591 C G rs138240288 MYOM2 Nonsynonymous SNV A130G 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 11.32 103047 chr11 6942609 6942609 C G rs757423761 OR2D3 Nonsynonymous SNV T126R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 103048 chr20 18507135 18507135 T C rs953079477 SEC23B Nonsynonymous SNV I318T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.6 103049 chr19 21991994 21991994 C G ZNF43 Nonsynonymous SNV G217A 0.003 0.01 0 0 3 4 0 0 0 0 0 0 21 103050 chr8 28384937 28384937 T C rs138898671 FZD3 Synonymous SNV T220T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.315 103051 chr8 22136966 22136966 C T rs375849565 PIWIL2 Nonsynonymous SNV R23W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 103052 chr6 56418281 56418281 A T rs191081991 DST Nonsynonymous SNV F2480L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 0.002 103053 chr7 1595005 1595005 C T rs183593116 TMEM184A Nonsynonymous SNV G39E 0.005 0.01 0.014 1 6 4 0.003 4 0 0 0 0 Benign 3.665 103054 chr9 26116243 26116243 T C LOC100506422 Nonsynonymous SNV L140P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.55 103055 chr8 145008184 145008184 G A rs782527499 PLEC Synonymous SNV A401A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 103056 chr20 4228726 4228726 C G ADRA1D Nonsynonymous SNV K293N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26 103057 chr11 73074799 73074799 G A rs374378252 ARHGEF17 Nonsynonymous SNV V1752M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 103058 chr20 6022490 6022490 A C rs374804431 LRRN4 Synonymous SNV L467L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 103059 chr8 38880817 38880817 G A rs140082569 ADAM9 Nonsynonymous SNV R296Q 0.003 0.016 0 0 4 6 0 0 0 0 0 0 Benign/Likely benign 23.7 103060 chr9 33467729 33467729 C T rs61995751 NOL6 Nonsynonymous SNV R521Q 0.009 0.008 0.007 8 10 3 0.021 2 0 0 0 0 27.2 103061 chr20 25656224 25656224 G A rs141590223 ZNF337 Nonsynonymous SNV S567L 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 24.4 103062 chr8 42039507 42039507 G A rs114720257 PLAT Synonymous SNV H190H 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 4.536 103063 chr8 42128899 42128899 G C rs201028246 IKBKB Nonsynonymous SNV G4A 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.328 103064 chr7 2265063 2265063 G A rs143579216 MAD1L1 Synonymous SNV T91T 0.007 0 0 2 8 0 0.005 0 0 0 0 0 10.49 103065 chr11 76427471 76427471 G A rs56136160 GUCY2EP 0 0 0.02 0 0 0 0 6 0 0 1 0 3.358 103066 chr11 76430597 76430597 - AGGAGCATACCTACCTGAGCGCGTGCACCCCTGCCCCGGACCCCCACTCAAGGCATTTGGGGTCTGCACG GUCY2EP 0 0 0.071 0 0 0 0 21 0 0 2 0 103067 chr6 74155412 74155412 A G rs145259959 CGAS Nonsynonymous SNV L239P 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 23.9 103068 chr19 35940932 35940932 G C rs140779660 FFAR2 Nonsynonymous SNV E106Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 103069 chr9 37537476 37537476 G A rs61747579 FBXO10 Synonymous SNV T350T 0.009 0.01 0.007 5 11 4 0.013 2 0 0 0 0 Benign 4.617 103070 chr9 382518 382518 C T DOCK8 Nonsynonymous SNV P803S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.394 103071 chr20 33585057 33585057 C T rs770474351 MYH7B Nonsynonymous SNV R1163W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 32 103072 chr8 3087687 3087687 C G rs147245019 CSMD1 Nonsynonymous SNV R1407T 0.007 0 0 3 8 0 0.008 0 0 0 0 0 Benign 24.6 103073 chr9 4490760 4490760 G C rs2229885 SLC1A1 Synonymous SNV A27A 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 Benign 18.97 103074 chr6 82459448 82459448 C T rs773616942 TENT5A Synonymous SNV Q431Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.791 103075 chr9 5462876 5462876 C G rs17718883 CD274 Nonsynonymous SNV P32R 0.001 0.008 0.003 3 1 3 0.008 1 0 0 0 0 23 103076 chr7 30102295 30102295 A G rs41275985 PLEKHA8 Nonsynonymous SNV K244E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26 103077 chr11 83585487 83585487 A G rs201235627 DLG2 Nonsynonymous SNV L306P 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Likely benign 25.4 103078 chr19 37005795 37005795 C G rs146981036 ZNF260 Nonsynonymous SNV V116L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.218 103079 chr9 6421117 6421117 T C rs150094630 UHRF2 Nonsynonymous SNV I120T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.31 103080 chr8 38965324 38965324 G A rs61753546 ADAM32 Nonsynonymous SNV G44D 0.009 0.008 0.014 1 11 3 0.003 4 0 0 0 0 3.603 103081 chr6 90458979 90458979 T C rs116229207 MDN1 Nonsynonymous SNV Y1242C 0.007 0.013 0.007 4 8 5 0.01 2 0 0 0 1 24.9 103082 chr11 86270754 86270754 G A rs377467432 ME3 Nonsynonymous SNV R99W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 103083 chr8 22428640 22428640 G A rs34059820 SORBS3 Nonsynonymous SNV R208H 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 8.214 103084 chr20 31587930 31587930 A G rs745594083 SUN5 Nonsynonymous SNV L97P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 103085 chr7 34009955 34009955 A T rs147600292 BMPER Synonymous SNV T139T 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Benign/Likely benign 0.032 103086 chr8 22471792 22471792 A G rs143895597 CCAR2 Nonsynonymous SNV I298V 0.014 0.013 0.02 7 17 5 0.018 6 0 0 0 0 12.53 103087 chr8 53092851 53092851 C A ST18 Star tloss M36I 0.004 0 0 0 5 0 0 0 0 0 0 0 14.05 103088 chr7 100417320 100417320 G A rs747346450 EPHB4 Synonymous SNV L386L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.206 103089 chr8 6302730 6302730 C T rs549929887 MCPH1 Nonsynonymous SNV S448L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 103090 chr19 38964340 38964340 G A RYR1 Synonymous SNV A1363A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.279 103091 chr11 93471541 93471541 A C rs142372028 TAF1D Nonsynonymous SNV S65A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 103092 chr19 39096326 39096326 C T rs374079126 MAP4K1 Synonymous SNV G415G 0.008 0 0 1 9 0 0.003 0 0 0 0 0 9.816 103093 chr7 100549849 100549849 A G rs367866392 MUC3A Nonsynonymous SNV I144V 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 0.006 103094 chr8 26492298 26492298 C T rs569990259 DPYSL2 Synonymous SNV V336V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.937 103095 chr8 70533375 70533375 C G rs142971465 SULF1 Nonsynonymous SNV R495G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 16.1 103096 chr8 70744224 70744224 C T rs111622961 SLCO5A1 Nonsynonymous SNV A229T 0.003 0 0 0 4 0 0 0 0 0 0 0 20.7 103097 chr8 71619302 71619305 TATT - XKR9 F137Rfs*47 0.002 0 0 0 2 0 0 0 0 0 0 0 103098 chr8 71508553 71508553 T C rs34159261 TRAM1 Nonsynonymous SNV N58D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 19 103099 chr8 71619235 71619235 G T rs112321073 XKR9 Nonsynonymous SNV V114L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.871 103100 chr19 41122927 41122927 G A rs750698494 LTBP4 0.007 0 0 1 8 0 0.003 0 0 0 0 0 25 103101 chr20 44171455 44171455 T C rs2231838 EPPIN, EPPIN-WFDC6 Nonsynonymous SNV H92R 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.002 103102 chr8 28574446 28574446 C T rs36092162 EXTL3 Synonymous SNV N290N 0.003 0 0.017 0 4 0 0 5 0 0 0 0 Benign 0.802 103103 chr7 4824639 4824639 C T rs763250825 AP5Z1 Synonymous SNV A141A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 15.65 103104 chr7 4825315 4825315 G A rs777093701 AP5Z1 Nonsynonymous SNV G222R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 25.4 103105 chr7 4841452 4841452 C G rs142212641 RADIL Nonsynonymous SNV A892P 0.005 0.01 0.007 5 6 4 0.013 2 0 0 0 0 6.71 103106 chr7 100551007 100551007 A G rs565072040 MUC3A Nonsynonymous SNV T530A 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 1.479 103107 chr12 10746469 10746469 T C rs146728016 KLRA1P 0 0 0.014 0 0 0 0 4 0 0 0 0 10.68 103108 chr8 36780120 36780120 C T KCNU1 Synonymous SNV G903G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.988 103109 chr20 44757524 44757524 C G rs11086998 CD40 Nonsynonymous SNV P175A 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 Benign/Likely benign 0.001 103110 chr20 47292761 47292761 C T rs141743214 PREX1 Synonymous SNV G545G 0.005 0 0 1 6 0 0.003 0 0 0 0 0 14.75 103111 chr8 38832054 38832054 G A rs1014813907 HTRA4 Nonsynonymous SNV G91E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 103112 chr9 107266833 107266833 G A rs79177442 OR13F1 Nonsynonymous SNV C97Y 0.013 0.018 0.01 10 15 7 0.026 3 0 0 0 0 25.2 103113 chr9 100405634 100405634 G A rs143745791 NCBP1 Nonsynonymous SNV V58M 0.009 0.008 0.01 5 10 3 0.013 3 0 0 0 0 23.1 103114 chrX 105168754 105168754 G T rs370047556 NRK Nonsynonymous SNV A1015S 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 0.012 103115 chrX 106846551 106846551 C T rs201630117 FRMPD3 Nonsynonymous SNV S1794L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 103116 chr8 42977532 42977532 A G rs149297443 POMK Nonsynonymous SNV I189V 0.014 0.01 0 4 16 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 103117 chr7 56170646 56170649 TGTT - rs755124829 CHCHD2 K119Sfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 103118 chr20 49225045 49225045 C T rs140498431 RIPOR3 Synonymous SNV S279S 0.006 0.003 0.014 5 7 1 0.013 4 0 0 1 0 16.48 103119 chr20 50140039 50140039 C T rs35195881 NFATC2 Synonymous SNV S227S 0.026 0.023 0.034 7 30 9 0.018 10 1 0 0 0 13.77 103120 chr9 113096570 113096570 C T rs74374159 TXNDC8 Nonsynonymous SNV G19R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 25.2 103121 chr9 113169116 113169116 T C rs16914996 SVEP1 Nonsynonymous SNV I2922V 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.001 103122 chr9 113169816 113169816 T C rs116159392 SVEP1 Synonymous SNV G2688G 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.147 103123 chr9 100616701 100616712 GCCGCCGCCGCC - rs755911172 FOXE1 A176_A179del 0.003 0.005 0.003 2 3 2 0.005 1 1 0 0 0 103124 chr8 59728282 59728282 C T rs781293745 TOX Nonsynonymous SNV S336N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 103125 chr9 113233738 113233738 T C rs61732942 SVEP1 Synonymous SNV A968A 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.206 103126 chr8 62212414 62212414 T C CLVS1 Nonsynonymous SNV Y10H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.758 103127 chr7 6474437 6474437 C G rs140011587 DAGLB Nonsynonymous SNV V212L 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 13.03 103128 chr12 11214153 11214153 C T rs751399496 TAS2R46 Nonsynonymous SNV M247I 0.006 0 0.017 0 7 0 0 5 0 0 0 0 0.001 103129 chr12 11214156 11214156 G T rs781254430 TAS2R46 Synonymous SNV I246I 0.003 0 0.017 0 4 0 0 5 0 0 0 0 0.131 103130 chr12 112337874 112337874 C T rs7309681 ADAM1A 0 0 0.017 0 0 0 0 5 0 0 0 0 15.17 103131 chr7 73122956 73122956 C T rs140052001 STX1A Synonymous SNV K57K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15 103132 chr9 111617414 111617414 G A rs115068245 ACTL7B Nonsynonymous SNV P266L 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 10.36 103133 chr9 1051695 1051696 GG - DMRT2 P30Afs*22 0.003 0.01 0 0 3 4 0 0 0 0 0 0 103134 chr7 75511222 75511222 G A rs11547498 RHBDD2 Nonsynonymous SNV R85H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 23.8 103135 chr12 114397888 114397888 G T rs146764943 RBM19 Nonsynonymous SNV D105E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.32 103136 chr8 74207806 74207806 G A rs776906420 RDH10 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 103137 chr7 1037383 1037383 C - rs200169409 C7orf50 A155Pfs*4 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 103138 chr12 116586414 116586414 - TA rs368602518 MIR620 0 0 0.003 0 0 0 0 1 0 0 0 0 103139 chr9 114195640 114195640 T C rs375226838 ECPAS Nonsynonymous SNV I241V 0.003 0 0 0 4 0 0 0 0 0 0 0 26.4 103140 chr7 107329557 107329557 T C rs111033243 SLC26A4 Nonsynonymous SNV F354S 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 103141 chr20 60901932 60901932 C T rs45496002 LAMA5 Nonsynonymous SNV V1735M 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Likely benign 23.8 103142 chr7 80292321 80292321 - ATCA rs780114238 CD36 Frameshift insertion N151Sfs*14 0.002 0 0 1 2 0 0.003 0 0 0 0 0 103143 chr9 111954598 111954598 G A rs186511890 EPB41L4B Nonsynonymous SNV P754L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 34 103144 chr8 8560618 8560618 - CAAGCC rs57083604 CLDN23 K244_V245insPK 0.001 0.005 0 0 1 2 0 0 0 0 0 0 103145 chr12 12022496 12022496 T C rs145477191 ETV6 Nonsynonymous SNV L201P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 15.91 103146 chr9 117848673 117848673 C T rs139025891 TNC Nonsynonymous SNV R446Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.8 103147 chr7 84651849 84651849 G T rs141893504 SEMA3D Nonsynonymous SNV H424Q 0.009 0.005 0.01 2 10 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 103148 chr9 121971026 121971026 G A BRINP1 Synonymous SNV H372H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.949 103149 chr9 122075462 122075462 C T rs370723630 BRINP1 Nonsynonymous SNV V58M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 103150 chrX 151818931 151818931 G A rs782570875 GABRQ Synonymous SNV R263R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.78 103151 chr9 116356263 116356263 G C rs139614300 RGS3 Nonsynonymous SNV A22P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.59 103152 chr7 87913349 87913349 A G rs149348409 STEAP4 Nonsynonymous SNV I79T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.8 103153 chr7 115897392 115897392 G T rs4710 TES Synonymous SNV R374R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.43 103154 chr7 11676551 11676551 G T rs113771015 THSD7A Synonymous SNV P76P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.125 103155 chr7 11676554 11676554 A G rs375194191 THSD7A Synonymous SNV G75G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.108 103156 chr7 89866266 89866266 C T rs201839111 STEAP2 Nonsynonymous SNV T416I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.34 103157 chr9 115759824 115759824 C T ZNF883 Nonsynonymous SNV C239Y 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 103158 chr8 98288876 98288876 T C rs770877248 TSPYL5 Synonymous SNV Q399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 103159 chr8 99234772 99234772 T G rs77774174 NIPAL2 Nonsynonymous SNV T165P 0.014 0.005 0.007 3 17 2 0.008 2 0 0 0 1 16.08 103160 chr9 100919754 100919754 G T rs74943592 CORO2A Synonymous SNV I63I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.38 103161 chr12 124824703 124824703 T C rs577745902 NCOR2 Nonsynonymous SNV S1836G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 103162 chr7 12680060 12680060 A G rs35705332 SCIN Nonsynonymous SNV K253R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 103163 chr12 124824710 124824721 GCCCCCACCCCC - rs937340308 NCOR2 G1830_G1833del 0 0 0.003 0 0 0 0 1 0 0 0 0 103164 chr7 94917894 94917894 G A rs149869201 PPP1R9A Nonsynonymous SNV R975Q 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 Benign 28.7 103165 chr9 101751513 101751513 A T rs191757905 COL15A1 Nonsynonymous SNV L259F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.76 103166 chr9 125642596 125642596 C T rs373385496 SNORD90 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.5 103167 chr9 123943797 123943797 G A rs765091941 RAB14 Synonymous SNV N175N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.124 103168 chr7 95125293 95125293 C T rs147091900 ASB4 Synonymous SNV S137S 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 13.07 103169 chr21 16338106 16338106 G A rs61750208 NRIP1 Nonsynonymous SNV S803L 0.011 0.01 0.01 4 13 4 0.01 3 1 0 0 0 16.77 103170 chr7 128449682 128449682 G C rs927476087 CCDC136 Nonsynonymous SNV S595T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.529 103171 chr7 98457909 98457909 G A rs147133382 TMEM130 Synonymous SNV P46P 0 0 0 2 0 0 0.005 0 0 0 0 0 12.15 103172 chr21 38544937 38544937 A G TTC3 Nonsynonymous SNV Q781R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 103173 chrX 35989016 35989016 G A rs780568572 CFAP47 Nonsynonymous SNV R649H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.49 103174 chr12 129360497 129360497 A T rs767207876 GLT1D1 Nonsynonymous SNV K36M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 103175 chr12 131297541 131297541 T C rs145834567 STX2 Nonsynonymous SNV I81V 0 0 0.007 0 0 0 0 2 0 0 0 0 20.3 103176 chr8 100205221 100205221 T C rs114120664 VPS13B Synonymous SNV H817H 0.007 0.005 0.003 5 8 2 0.013 1 0 0 0 0 Benign 0.266 103177 chr21 30419319 30419319 C T rs61760206 USP16 Nonsynonymous SNV T562M 0.003 0 0 3 3 0 0.008 0 0 0 0 0 9.137 103178 chr12 132241059 132241059 C T rs528307334 SFSWAP Synonymous SNV P530P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 103179 chr9 126144390 126144390 G T rs189947178 DENND1A Nonsynonymous SNV A795D 0.011 0.01 0.014 8 13 4 0.021 4 0 0 1 0 18.79 103180 chr9 127083782 127083782 C T rs765205974 NEK6 Synonymous SNV I131I 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 15.63 103181 chr19 50017538 50017538 G C rs150420714 FCGRT Nonsynonymous SNV K132N 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 25.6 103182 chr12 133354341 133354341 C T rs78964783 GOLGA3 Synonymous SNV A1211A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.87 103183 chr21 33984488 33984488 G C rs779818902 C21orf59-TCP10L, CFAP298 Synonymous SNV T22T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.46 103184 chr12 133378465 133378465 G A rs145501010 GOLGA3 Nonsynonymous SNV A563V 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign 31 103185 chr8 10583367 10583367 C A rs147348948 SOX7 Nonsynonymous SNV A350S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 103186 chr12 13366433 13366433 G A rs762770094 EMP1 Synonymous SNV T33T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.877 103187 chr21 34927501 34927501 T C rs139304331 SON Synonymous SNV P1988P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.013 103188 chr21 34927507 34927507 T C rs528498338 SON Synonymous SNV R1990R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.005 103189 chr21 35514749 35514749 A T rs61910679 MRPS6 Nonsynonymous SNV E76V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 15.65 103190 chr9 131860917 131860917 C T rs141081974 CRAT Synonymous SNV E366E 0.011 0.013 0.01 12 13 5 0.031 3 0 0 0 0 Uncertain significance 8.067 103191 chr19 50824036 50824036 G A rs748735877 KCNC3 Nonsynonymous SNV R586C 0.005 0 0 0 6 0 0 0 0 0 0 0 32 103192 chr9 131862903 131862903 T C rs145822836 CRAT Nonsynonymous SNV T291A 0.011 0.013 0.01 12 13 5 0.031 3 0 0 0 0 Uncertain significance 0.002 103193 chr19 50917108 50917108 C T rs199783227 POLD1 Nonsynonymous SNV P813L 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 22.1 103194 chr9 130197442 130197442 G A rs192043906 ZNF79 Nonsynonymous SNV R36Q 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 9.776 103195 chr12 18473959 18473959 G A rs758460422 PIK3C2G Nonsynonymous SNV V401I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.086 103196 chr21 39671199 39671199 A G rs79109585 KCNJ15 Nonsynonymous SNV I6V 0.009 0.005 0.01 2 10 2 0.005 3 0 0 1 0 Benign 0.001 103197 chrX 70148071 70148071 G A rs140628718 SLC7A3 Synonymous SNV F248F 0.019 0.018 0.007 5 22 7 0.013 2 6 2 1 2 9.938 103198 chrX 70356450 70356450 G A rs1060502167 MED12 Nonsynonymous SNV R1782H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 103199 chr9 116346394 116346394 A C rs200205068 RGS3 Nonsynonymous SNV D222A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 103200 chr21 41414419 41414419 C T rs189404834 DSCAM Synonymous SNV T1855T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.08 103201 chrX 78426767 78426767 C A rs147721174 GPR174 Nonsynonymous SNV P88H 0.004 0.008 0.007 0 5 3 0 2 1 1 1 0 7.965 103202 chr9 131777050 131777050 C T rs756747091 SH3GLB2 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 103203 chr19 51561828 51561828 G A rs781158309 KLK13 Synonymous SNV A52A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.53 103204 chrX 9907369 9907369 C T rs149373874 SHROOM2 Nonsynonymous SNV S260L 0.009 0.01 0.007 3 10 4 0.008 2 2 1 1 1 26 103205 chr7 143208578 143208578 G A rs183991187 OR10AC1 Synonymous SNV P142P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.004 103206 chr9 131678440 131678440 C T rs139178076 LRRC8A Synonymous SNV N741N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 13.1 103207 chr21 47539015 47539015 C T rs61735827 COL6A2 Synonymous SNV R417R 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 Benign/Likely benign 6.239 103208 chr10 100995498 100995498 C T rs143816972 HPSE2 Nonsynonymous SNV C21Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.84 103209 chr12 28701999 28701999 G A rs201558537 CCDC91 Nonsynonymous SNV D245N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 103210 chr21 47565371 47565371 G T rs148920158 FTCD Nonsynonymous SNV T407K 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.237 103211 chr9 123201876 123201876 G A rs139143441 CDK5RAP2 Nonsynonymous SNV H945Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 103212 chr19 52033967 52033967 G T rs180865472 SIGLEC6 Nonsynonymous SNV T189N 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 2.473 103213 chr8 133909949 133909949 C T rs116032324 TG Synonymous SNV S1019S 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.536 103214 chr21 44839269 44839269 G A rs772910681 SIK1, SIK1B Synonymous SNV A403A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 103215 chr19 52469194 52469194 C T rs138780746 ZNF350 Nonsynonymous SNV R171Q 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.249 103216 chr10 103826291 103826291 C T rs149692177 HPS6 Nonsynonymous SNV H354Y 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Uncertain significance 0.006 103217 chr8 135490874 135490874 G A rs140801453 ZFAT Synonymous SNV L1097L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 12.02 103218 chr8 135602542 135602542 C T rs10505626 ZFAT Synonymous SNV L782L 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 12.5 103219 chr10 104165149 104165149 G A rs377372832 PSD Synonymous SNV H760H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.74 103220 chr12 41966327 41966327 G C PDZRN4 Nonsynonymous SNV L324F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 103221 chr19 52909227 52909227 C T rs141013163 ZNF528 Nonsynonymous SNV A28V 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Likely benign 23.1 103222 chr12 45444383 45444383 G A rs201482079 DBX2 Nonsynonymous SNV P110S 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 15.9 103223 chr9 138903440 138903440 G A rs374481610 NACC2 Synonymous SNV G562G 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 5.506 103224 chr9 139108551 139108551 C T rs151337392 QSOX2 Synonymous SNV P368P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.76 103225 chr9 127999249 127999249 G A rs147263674 HSPA5 Synonymous SNV D529D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 5.963 103226 chr12 46764973 46764973 G A rs146932871 SLC38A2 Nonsynonymous SNV A35V 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 21.8 103227 chr7 150771209 150771209 G T SLC4A2 Synonymous SNV G864G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.161 103228 chr9 130575613 130575613 A C rs141447015 FPGS Synonymous SNV A472A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 103229 chr19 53432237 53432237 G A rs182852288 ZNF816-ZNF321P Synonymous SNV N207N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.011 103230 chr9 13140071 13140071 G A rs772730297 MPDZ Synonymous SNV A1273A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 103231 chr9 131670382 131670382 C G rs369898214 LRRC8A Synonymous SNV P313P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.465 103232 chr12 50358888 50358888 G A rs41308104 AQP5 Synonymous SNV T242T 0.007 0.008 0.007 7 8 3 0.018 2 0 0 0 0 11.3 103233 chr8 144672035 144672035 C T rs112907282 EEF1D Nonsynonymous SNV D73N 0.02 0.008 0.017 12 24 3 0.031 5 0 0 0 0 12.95 103234 chr9 139960728 139960728 C T rs529515798 SAPCD2 Nonsynonymous SNV V224M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.5 103235 chr8 144800997 144800997 C T rs143159328 MAPK15 Synonymous SNV H113H 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 14.86 103236 chr12 5154242 5154242 C T rs17215402 KCNA5 Nonsynonymous SNV P310L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.77 103237 chr8 144998621 144998621 G A rs200575795 PLEC Nonsynonymous SNV R1812W 0.03 0.021 0.014 7 35 8 0.018 4 0 0 0 0 Benign/Likely benign 19.79 103238 chr8 145095784 145095784 C - rs576544596 SPATC1 H363Ifs*53 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 103239 chr7 22771039 22771039 T A rs13306435 IL6 Nonsynonymous SNV D86E 0.007 0.008 0.024 3 8 3 0.008 7 0 0 0 0 0.002 103240 chr7 23293874 23293887 AGATGCCAAAAGGA - rs758729806 GPNMB K107Wfs*6 0.002 0.003 0 0 2 1 0 0 0 0 0 0 103241 chr8 145624760 145624760 G A rs145778551 CPSF1 Nonsynonymous SNV A433V 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 10.4 103242 chr9 139925384 139925384 G A rs138771731 FUT7 Synonymous SNV D269D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.111 103243 chr7 2695788 2695788 C A TTYH3 Synonymous SNV T361T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 103244 chr12 52985320 52985320 G A rs367576767 KRT72 Synonymous SNV A297A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 103245 chr10 125780657 125780657 T C rs756289983 CHST15 Nonsynonymous SNV S488G 0.004 0 0 0 5 0 0 0 0 0 0 0 12.34 103246 chr19 56041232 56041232 C T rs55786018 SBK2 Synonymous SNV R305R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.41 103247 chr12 53009965 53009965 T C rs376869497 KRT73 Nonsynonymous SNV E216G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 103248 chr12 53045781 53045781 C T rs753778046 KRT2 Nonsynonymous SNV G49D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 103249 chr9 140138736 140138737 AG - rs570890546 FAM166A L251Vfs*2 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 103250 chr7 31682427 31682427 G A rs143751428 ITPRID1 Synonymous SNV A481A 0 0.008 0 0 0 3 0 0 0 0 0 0 9.936 103251 chr22 26294358 26294358 C G MYO18B Nonsynonymous SNV L1586V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 103252 chr10 129705543 129705543 C T rs111696486 PTPRE Nonsynonymous SNV A8V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 9.38 103253 chr9 3247985 3247985 T - rs778097641 RFX3 K672Sfs*8 0.001 0.003 0 0 1 1 0 0 0 0 0 0 103254 chr9 138903374 138903374 T C NACC2 Synonymous SNV A584A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 103255 chr9 32632499 32632499 G A rs778201054 TAF1L Nonsynonymous SNV R1027C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 103256 chr9 139568255 139568255 G A rs151215253 AGPAT2 Synonymous SNV T230T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.09 103257 chr7 37780312 37780312 A C rs776331619 GPR141 Nonsynonymous SNV Y106S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 103258 chr12 55420891 55420891 A G rs118105704 NEUROD4 Nonsynonymous SNV H223R 0.005 0.01 0.017 3 6 4 0.008 5 0 0 0 0 22.8 103259 chr7 37936557 37936557 G A rs140494494 NME8 Nonsynonymous SNV A544T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 29.1 103260 chr9 34621508 34621508 T C ARID3C Nonsynonymous SNV T396A 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 12.53 103261 chr9 34648114 34648114 C A rs61735984 GALT Synonymous SNV I61I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.18 103262 chr8 21986479 21986479 G A rs78621054 HR Nonsynonymous SNV P69S 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 Benign 15.61 103263 chr8 21997548 21997548 G C REEP4 Synonymous SNV L77L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.18 103264 chr9 20929531 20929531 G A rs143564901 FOCAD Nonsynonymous SNV V1085M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Likely benign 23.6 103265 chr9 20982419 20982419 G A FOCAD Nonsynonymous SNV A1568T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 103266 chr9 21305071 21305071 G A rs184880532 IFNA5 Nonsynonymous SNV P62L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 21.3 103267 chr9 36171092 36171092 G A rs61735202 CCIN Synonymous SNV G531G 0.024 0.018 0.02 1 28 7 0.003 6 0 1 0 0 0.7 103268 chr7 44663981 44663981 A C rs34777281 OGDH Synonymous SNV P13P 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Benign 0.177 103269 chr9 312082 312082 C T rs368709669 DOCK8 Synonymous SNV A151A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 11.11 103270 chr12 57677666 57677666 G A R3HDM2 Nonsynonymous SNV T339I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 103271 chr22 32792223 32792223 A G rs10222228 RTCB Synonymous SNV A276A 0.005 0 0.01 0 6 0 0 3 0 0 0 0 Benign 4.685 103272 chr9 33271151 33271151 T C rs777467992 CHMP5 Nonsynonymous SNV V106A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 103273 chr7 47319928 47319928 G A rs183336114 TNS3 Synonymous SNV P1374P 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Benign 16.3 103274 chr10 15107735 15107735 C T rs553927806 OLAH Synonymous SNV N185N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.618 103275 chr9 34241337 34241337 C G rs149805302 UBAP1 Nonsynonymous SNV S169C 0.001 0.008 0 0 1 3 0 0 0 1 0 0 25.4 103276 chr12 60169112 60169112 T G rs149587895 SLC16A7 Nonsynonymous SNV F346V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 15.5 103277 chr9 711294 711294 G A rs114347114 KANK1 Synonymous SNV P18P 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 8.723 103278 chr22 36684851 36684851 G A MYH9 Synonymous SNV A1564A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 103279 chr9 35751737 35751737 G A rs369730817 RGP1 Nonsynonymous SNV V250I 0.003 0.01 0 0 3 4 0 0 0 1 0 0 15.03 103280 chr22 36712700 36712700 G A rs138436678 MYH9 Synonymous SNV I414I 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 Benign/Likely benign 14.59 103281 chr7 48273622 48273622 T G rs373967596 ABCA13 Synonymous SNV V257V 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 0.131 103282 chr12 64679790 64679790 C T rs149133524 C12orf56 Synonymous SNV P228P 0.007 0.003 0.017 1 8 1 0.003 5 0 0 0 0 10.64 103283 chr8 2823348 2823348 T C rs201934961 CSMD1 Nonsynonymous SNV I3077V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.074 103284 chr12 6483756 6483756 T G rs753866692 SCNN1A Nonsynonymous SNV N124T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 103285 chr9 21334638 21334638 C G KLHL9 Nonsynonymous SNV S74T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 103286 chr8 29004925 29004925 G C KIF13B Nonsynonymous SNV Q670E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 103287 chr9 396837 396837 G A rs145844320 DOCK8 Nonsynonymous SNV R908Q 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Uncertain significance 35 103288 chr22 38016833 38016833 C A rs144563403 GGA1 Synonymous SNV S147S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 103289 chr9 75355093 75355093 C T rs11143384 TMC1 Nonsynonymous SNV R141W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 103290 chr12 6562856 6562856 G C TAPBPL Nonsynonymous SNV S180T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.532 103291 chr7 5112003 5112003 C T rs768389838 RBAK-RBAKDN Synonymous SNV P83P 0 0.005 0 0 0 2 0 0 0 0 0 0 13.52 103292 chr8 30744702 30744702 G A rs554293399 TEX15 Synonymous SNV I39I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.31 103293 chr9 5522576 5522576 G - rs567501802 PDCD1LG2 E11Nfs*7 0.013 0.013 0.007 8 15 5 0.021 2 0 0 0 0 103294 chr12 675339 675339 T C rs34578646 NINJ2 Synonymous SNV G6G 0.009 0.008 0.02 1 10 3 0.003 6 0 0 0 0 0.009 103295 chr9 78973463 78973463 T G rs17721466 PCSK5 Synonymous SNV P1736P 0.016 0.013 0.02 4 19 5 0.01 6 0 1 0 0 1.011 103296 chr22 39145816 39145816 C T rs149088273 SUN2 Nonsynonymous SNV R211H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 103297 chr8 38205295 38205295 T C rs760058207 NSD3 Nonsynonymous SNV Q132R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.1 103298 chr9 89561431 89561431 G A rs184053229 GAS1 Synonymous SNV A88A 0.014 0.016 0.014 2 17 6 0.005 4 0 0 0 0 5.812 103299 chr12 70273218 70273218 T A rs1041322956 MYRFL Nonsynonymous SNV L150Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.7 103300 chr12 70747694 70747694 A - rs758089473 CNOT2 X541X 0 0 0.037 1 0 0 0.003 11 0 0 2 0 103301 chr22 40417496 40417496 G A rs140734376 FAM83F Nonsynonymous SNV A328T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 103302 chr20 3674309 3674309 C T rs61734522 SIGLEC1 Nonsynonymous SNV R1098Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 2.895 103303 chr9 88938721 88938721 T G rs367981279 TUT7 Synonymous SNV T525T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.039 103304 chr9 35563245 35563245 T C rs187370786 FAM166B Synonymous SNV R68R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.537 103305 chr8 43025835 43025835 G A rs775663094 HGSNAT Synonymous SNV R247R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.693 103306 chr7 63981558 63981558 T C rs199907099 ZNF680 Nonsynonymous SNV N525S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 1.694 103307 chr9 35802214 35802214 C T rs772510686 NPR2 Synonymous SNV V548V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.88 103308 chr20 5559221 5559221 G A rs150734510 GPCPD1 Synonymous SNV D170D 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 0.781 103309 chr12 7923057 7923057 C T rs77290736 NANOGNB Nonsynonymous SNV T153M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.63 103310 chr9 37707474 37707474 C T rs572307245 FRMPD1 Stop gain R55X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 103311 chr8 61693924 61693924 C T rs904737266 CHD7 Synonymous SNV P677P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.18 103312 chr12 80083920 80083920 G A rs763688051 PAWR Synonymous SNV N35N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.573 103313 chr7 6639703 6639703 C T rs760486678 C7orf26 Nonsynonymous SNV P275L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 8.174 103314 chr22 43654278 43654278 G A rs73420094 SCUBE1 Nonsynonymous SNV T225M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.71 103315 chr20 10258335 10258335 G T rs147866099 SNAP25 Synonymous SNV S25S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.326 103316 chr9 90498000 90498000 T G rs142071983 SPATA31E1 Nonsynonymous SNV M65R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 10.31 103317 chr9 91616745 91616745 C G rs34962307 S1PR3 Synonymous SNV T210T 0.014 0.013 0.003 7 16 5 0.018 1 0 0 0 0 1.965 103318 chr9 5747390 5747390 C A rs41280731 RIC1 Nonsynonymous SNV S446Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21 103319 chr9 5920262 5920262 G A rs376920379 KIAA2026 Nonsynonymous SNV L1912F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 103320 chr22 44495953 44495953 A G rs56194750 PARVB Nonsynonymous SNV M38V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.45 103321 chrX 10181902 10181902 G A rs143437511 CLCN4 Synonymous SNV V492V 0.007 0.008 0.01 3 8 3 0.008 3 1 1 1 1 Conflicting interpretations of pathogenicity 0.434 103322 chrX 101912933 101912933 G A rs367848659 GPRASP1 Synonymous SNV P1364P 0.002 0 0 3 2 0 0.008 0 0 0 0 1 9.052 103323 chr12 89916968 89916968 G A rs187767855 GALNT4, POC1B-GALNT4 Synonymous SNV I453I 0.015 0.01 0.003 4 18 4 0.01 1 0 0 0 0 4.157 103324 chr22 47193356 47193356 C T TBC1D22A Nonsynonymous SNV A112V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.81 103325 chr22 50659056 50659056 G A rs140699312 TUBGCP6 Synonymous SNV H1244H 0.014 0.013 0.003 4 17 5 0.01 1 0 1 0 0 Benign/Likely benign 5.936 103326 chrX 123515036 123515036 C T rs185277810 TENM1 Nonsynonymous SNV G2510R 0.006 0 0 1 7 0 0.003 0 2 0 0 0 16.8 103327 chr22 50719041 50719041 G A rs776753345 PLXNB2 Nonsynonymous SNV A1351V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 103328 chrX 123516541 123516541 A C rs202013155 TENM1 Synonymous SNV T2466T 0.006 0 0 1 7 0 0.003 0 2 0 0 0 1.786 103329 chr20 24950919 24950919 C T rs897495720 APMAP Synonymous SNV G209G 0.005 0 0 2 6 0 0.005 0 0 0 0 0 15.04 103330 chrX 128889288 128889288 C T rs140729317 XPNPEP2 Synonymous SNV S412S 0.012 0.003 0.003 3 14 1 0.008 1 3 0 0 1 17.17 103331 chr8 90967525 90967525 C T rs886063169 NBN Synonymous SNV P461P 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.7 103332 chr12 98848696 98848696 C T rs829863 SLC9A7P1 0 0 0.02 0 0 0 0 6 0 0 2 0 4.707 103333 chr12 98909972 98909972 C T TMPO-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 103334 chr7 88962831 88962831 G C rs150823294 ZNF804B Nonsynonymous SNV D179H 0.003 0.005 0.017 0 3 2 0 5 0 0 0 0 24.2 103335 chr10 5436350 5436350 C T rs12359438 TUBAL3 Synonymous SNV T117T 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 Benign 9.368 103336 chrX 11215070 11215070 T C rs750839287 ARHGAP6 Synonymous SNV L85L 0.006 0.005 0 2 7 2 0.005 0 2 1 0 1 5.427 103337 chr13 101308654 101308654 G A rs17579147 TMTC4 Synonymous SNV Y77Y 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 7.03 103338 chr9 86559809 86559809 G C rs143075171 C9orf64 Nonsynonymous SNV I231M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 103339 chrX 135432245 135432245 G T ADGRG4 Nonsynonymous SNV S2127I 0.006 0 0 0 7 0 0 0 1 0 0 0 14.87 103340 chr10 5800897 5800897 G A rs746343552 TASOR2 Nonsynonymous SNV G2231R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 103341 chr13 103396138 103396138 C T rs764054900 CCDC168 Synonymous SNV K2303K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.421 103342 chrX 152991490 152991490 G A ABCD1 Nonsynonymous SNV V257M 0.004 0.005 0 3 5 2 0.008 0 2 1 0 1 24.4 103343 chr9 100139253 100139253 G A rs994556329 SUGT1P4-STRA6LP-CCDC180 0 0 0 2 0 0 0.005 0 0 0 0 0 0.786 103344 chr9 95237028 95237030 TCA - ASPN D50del 0.012 0.016 0 4 14 6 0.01 0 0 0 0 0 103345 chr20 33589130 33589130 G A rs528021411 MYH7B Nonsynonymous SNV R1895H 0.005 0 0 2 6 0 0.005 0 0 0 0 0 26.3 103346 chr22 50957115 50957115 C T rs35126828 NCAPH2 Synonymous SNV S228S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 12.49 103347 chr22 50962514 50962514 G A rs75485962 SCO2 Synonymous SNV H109H 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign/Likely benign 2.427 103348 chr22 50965102 50965102 C T rs8141558 TYMP Synonymous SNV L277L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign/Likely benign 14.62 103349 chrX 19433337 19433337 C G MAP3K15 Nonsynonymous SNV R493P 0.005 0.005 0 3 6 2 0.008 0 1 1 0 1 23.2 103350 chrX 150840699 150840725 GCAGCTGCGGGAGCAGCTGCAACAGCT - PASD1 Q495_L503del 0.005 0 0 0 6 0 0 0 0 0 0 0 103351 chr13 113170872 113170872 A G rs982517434 TUBGCP3 Synonymous SNV C646C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 103352 chr13 113212523 113212523 A G rs753799627 TUBGCP3 Nonsynonymous SNV S169P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.831 103353 chr10 68139039 68139039 G A rs41274090 CTNNA3 Nonsynonymous SNV R535C 0.009 0.008 0.003 3 11 3 0.008 1 0 0 0 0 Benign 23.8 103354 chr20 35125457 35125457 G T rs146842291 DLGAP4 Synonymous SNV S127S 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 9.522 103355 chr20 35443933 35443933 C T rs369453834 SOGA1 Nonsynonymous SNV E638K 0.003 0 0 3 4 0 0.008 0 0 0 0 0 13.68 103356 chr13 113720390 113720390 C T MCF2L Nonsynonymous SNV H225Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 103357 chrX 148035200 148035200 G A rs12011040 AFF2 Synonymous SNV S137S 0.035 0.044 0.041 13 41 17 0.033 12 9 4 3 4 Benign 7.144 103358 chrX 48690538 48690538 G A rs186964289 PCSK1N Synonymous SNV L110L 0.034 0.031 0.054 20 40 12 0.051 16 8 2 6 6 8.889 103359 chrX 150912658 150912658 T G rs201110546 CNGA2 Synonymous SNV T561T 0.002 0.016 0 0 2 6 0 0 0 2 0 0 1.433 103360 chr7 99754499 99754499 C G rs201844389 MAP11 Nonsynonymous SNV G52A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.878 103361 chrX 12939290 12939290 A G TLR8 Nonsynonymous SNV T711A 0.005 0.003 0 0 6 1 0 0 1 0 0 0 0.001 103362 chr20 42242524 42242524 T C rs146213304 IFT52 Synonymous SNV L174L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 4.193 103363 chrX 15307659 15307659 T A rs143492892 ASB11 Nonsynonymous SNV R187W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 29.5 103364 chrX 153296717 153296717 G A rs782467549 MECP2 Nonsynonymous SNV R200W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 29.3 103365 chr20 43653713 43653713 C T rs33963346 STK4 Nonsynonymous SNV P416L 0.009 0.003 0.01 3 10 1 0.008 3 0 0 1 0 Benign 23 103366 chr9 108287053 108287053 C T rs576917054 RALGAPA1P1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.069 103367 chrX 23398070 23398070 A T rs765424375 PTCHD1 Nonsynonymous SNV R238S 0.003 0.003 0 0 4 1 0 0 1 0 0 0 Uncertain significance 11.08 103368 chrX 154754144 154754144 G A rs376662575 TMLHE Synonymous SNV L111L 0.003 0 0.007 2 4 0 0.005 2 0 0 1 1 2.676 103369 chr13 25457372 25457372 G A rs113239817 CENPJ Synonymous SNV S1320S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.63 103370 chrX 117032994 117032999 TTCATC - KLHL13 D608_E609del 0.003 0 0 0 3 0 0 0 1 0 0 0 103371 chr8 10396065 10396066 AG - PRSS55 S275Lfs*82 0.001 0.003 0 0 1 1 0 0 0 0 0 0 103372 chrX 117907850 117907850 C T rs139927088 IL13RA1 Nonsynonymous SNV R340C 0.006 0.008 0.007 0 7 3 0 2 2 0 1 0 22.4 103373 chr13 27829270 27829270 G C rs538884052 SNORD102 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 103374 chrX 128722976 128722976 C T OCRL Nonsynonymous SNV R811W 0.002 0 0 0 2 0 0 0 1 0 0 0 35 103375 chrX 34149717 34149717 G C rs772624189 FAM47A Nonsynonymous SNV P227A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.4 103376 chr9 112642952 112642952 A G PALM2AKAP2 Nonsynonymous SNV N83S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 103377 chrX 27839981 27839981 A C rs139940961 MAGEB10 Synonymous SNV L186L 0.017 0.036 0.017 6 20 14 0.015 5 3 4 1 2 0.001 103378 chr10 73566007 73566007 A T CDH23 Nonsynonymous SNV D476V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 103379 chr8 110406697 110406697 T C rs77766145 PKHD1L1 Nonsynonymous SNV M265T 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 23.2 103380 chr9 113341691 113341691 T C SVEP1 Nonsynonymous SNV S45G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.346 103381 chr9 113341692 113341692 C T rs760431243 SVEP1 Synonymous SNV G44G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 103382 chr13 36242633 36242633 A G rs757593730 NBEA Synonymous SNV A702A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.962 103383 chr10 7771958 7771958 C T rs71481738 ITIH2 Synonymous SNV N441N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.369 103384 chr9 114873997 114873997 C T rs146611081 SUSD1 Nonsynonymous SNV V370M 0.001 0.005 0.014 2 1 2 0.005 4 0 0 0 0 Benign 13.32 103385 chrX 38664744 38664744 G A rs143008624 MID1IP1 Nonsynonymous SNV G182D 0.003 0.008 0.014 0 3 3 0 4 0 1 2 0 Benign 25.3 103386 chrX 53112268 53112268 G A rs781830979 TSPYL2 Synonymous SNV K196K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.671 103387 chr20 50329509 50329509 T C rs367914650 ATP9A Synonymous SNV A144A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.158 103388 chr8 121222032 121222032 C T rs770905335 COL14A1 Synonymous SNV D453D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.15 103389 chr8 121530092 121530092 C T rs61753798 MTBP Nonsynonymous SNV L750F 0.01 0.013 0.007 3 12 5 0.008 2 0 0 0 0 22.5 103390 chr13 44457941 44457941 G A rs963238588 LACC1 Nonsynonymous SNV R259K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.627 103391 chr13 45563215 45563215 A G rs116755008 NUFIP1 Synonymous SNV Y119Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.483 103392 chrX 66765170 66765170 - GCAGCAGCA AR Q80_E81insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 103393 chrX 49028363 49028363 C T rs56121332 PLP2 Nonsynonymous SNV R6C 0.006 0.01 0.02 4 7 4 0.01 6 0 1 2 1 Benign 25.8 103394 chrX 135593322 135593322 A G rs149350146 HTATSF1 Nonsynonymous SNV K473R 0.003 0.016 0 4 4 6 0.01 0 2 2 0 2 2.142 103395 chrX 70389350 70389350 G A rs775350500 NLGN3 Synonymous SNV P610P 0.002 0.005 0 0 2 2 0 0 0 1 0 0 8.28 103396 chrX 55039959 55039959 G T rs150055592 ALAS2 Synonymous SNV P483P 0.005 0.016 0.01 0 6 6 0 3 1 2 1 0 Conflicting interpretations of pathogenicity 5.132 103397 chrX 76891458 76891458 T C rs782303976 ATRX Synonymous SNV L1511L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.748 103398 chr13 47409731 47409731 C T rs35480504 HTR2A Synonymous SNV S135S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 12.09 103399 chr13 52373687 52373687 A G rs490799 DHRS12 Nonsynonymous SNV L58P 0.012 0.013 0.027 12 14 5 0.031 8 0 0 0 0 2.935 103400 chrX 152710883 152710883 G A TREX2 Synonymous SNV S2S 0 0.005 0 2 0 2 0.005 0 0 1 0 1 2.187 103401 chr10 102056866 102056866 G A rs150484120 PKD2L1 Synonymous SNV I305I 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 8.728 103402 chr20 60893697 60893697 C T rs147290767 LAMA5 Nonsynonymous SNV R2351Q 0.014 0.016 0.024 5 16 6 0.013 7 0 0 1 0 Benign 23.8 103403 chrX 100808222 100808222 C T rs1044275 ARMCX1 Synonymous SNV G103G 0.024 0.039 0.034 15 28 15 0.038 10 4 5 4 5 11.62 103404 chrX 101912729 101912729 T C rs140638685 GPRASP1 Synonymous SNV V1296V 0.011 0.008 0 1 13 3 0.003 0 3 0 0 0 1.984 103405 chrX 101971960 101971960 C T rs112000579 ARMCX5-GPRASP2, GPRASP2 Synonymous SNV S721S 0.003 0 0 2 3 0 0.005 0 1 0 0 1 Benign 7.67 103406 chr13 73319236 73319236 C T rs9543107 BORA Nonsynonymous SNV S159L 0.024 0.013 0.014 3 28 5 0.008 4 0 0 0 0 23.5 103407 chrX 107408648 107408648 C A rs145388022 COL4A6 Nonsynonymous SNV A1230S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 19.06 103408 chr10 100219492 100219492 C G rs140066668 HPSE2 Nonsynonymous SNV V428L 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 Benign 31 103409 chr10 100374729 100374729 C T rs562588688 HPSE2 Nonsynonymous SNV V306M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 103410 chrX 107422058 107422058 C T rs143895379 COL4A6 Nonsynonymous SNV G791S 0.003 0 0 2 3 0 0.005 0 1 0 0 1 Conflicting interpretations of pathogenicity 24.2 103411 chr9 125281619 125281619 C T OR1J4 Nonsynonymous SNV A67V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27.8 103412 chr10 101639648 101639648 C T rs199968530 DNMBP Nonsynonymous SNV V1122I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 1.711 103413 chrX 109697742 109697742 G A RTL9 Synonymous SNV E1299E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.539 103414 chrX 99596953 99596953 G A rs193148631 PCDH19 Synonymous SNV N885N 0.01 0.003 0.007 5 12 1 0.013 2 3 0 1 2 Conflicting interpretations of pathogenicity 8.113 103415 chr10 101601775 101601775 A G rs1050355566 ABCC2 Synonymous SNV S1222S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.928 103416 chr8 135614408 135614408 C A rs781496982 ZFAT Synonymous SNV L456L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.383 103417 chrX 117758580 117758580 C G DOCK11 Nonsynonymous SNV R1184G 0.005 0.005 0 0 6 2 0 0 1 0 0 0 23.3 103418 chr10 101937918 101937918 T C rs139168020 ERLIN1 Synonymous SNV E8E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.822 103419 chr13 97485195 97485195 G A rs750137502 HS6ST3 Nonsynonymous SNV V387M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 103420 chr10 97442435 97442435 C T rs144543830 TCTN3 Synonymous SNV R327R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 10.24 103421 chr10 102765281 102765289 CAGGCACAG - rs764090983 LZTS2 Q159_Q161del 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 103422 chr10 101667792 101667792 C T rs17854135 DNMBP Synonymous SNV S470S 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 15.52 103423 chr10 101667814 101667814 A G rs17854134 DNMBP Nonsynonymous SNV M463T 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 26.7 103424 chr10 103827209 103827209 G A rs774233041 HPS6 Nonsynonymous SNV G660S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.296 103425 chrX 51149973 51149973 G A rs373778492 EZHIP Synonymous SNV G35G 0.007 0 0 1 8 0 0.003 0 2 0 0 0 0.091 103426 chrX 51149986 51149986 G A rs146827443 EZHIP Nonsynonymous SNV D40N 0.007 0 0.007 1 8 0 0.003 2 2 0 1 0 12 103427 chr10 99343407 99343407 G A rs773157878 ANKRD2 Synonymous SNV P303P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.447 103428 chrX 5811470 5811470 A T NLGN4X Synonymous SNV V613V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 103429 chr14 102700028 102700028 T C rs34965156 MOK Nonsynonymous SNV K125R 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 21.1 103430 chrX 66788856 66788856 G C rs747594866 AR Nonsynonymous SNV W4C 0.01 0 0 1 12 0 0.003 0 3 0 0 0 2.552 103431 chr10 103921652 103921652 A G rs113349256 NOLC1 Synonymous SNV S647S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 8.711 103432 chrX 135429562 135429562 T C rs140460718 ADGRG4 Nonsynonymous SNV S1233P 0.002 0.008 0.003 6 2 3 0.015 1 0 1 0 2 0.355 103433 chr10 105037316 105037316 G A rs886356259 INA Synonymous SNV E116E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.19 103434 chr14 104129097 104129097 C T rs34921828 KLC1 Synonymous SNV P210P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 9.807 103435 chr14 104206222 104206222 C T rs35098798 PPP1R13B Nonsynonymous SNV G844E 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 4.984 103436 chr14 104639439 104639439 G A rs61743543 KIF26A Nonsynonymous SNV V516I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 103437 chr10 10888094 10888094 G A rs118184393 CELF2 Nonsynonymous SNV D29N 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 0.942 103438 chrX 150832703 150832720 CCCAATGGACCAGCAGGA - rs759972296 PASD1 M320_P325del 0.003 0.003 0.027 1 4 1 0.003 8 0 0 3 0 103439 chr10 114496524 114496524 A G rs181352301 VTI1A Synonymous SNV P201P 0.008 0.008 0.01 1 9 3 0.003 3 0 0 0 0 7.98 103440 chr10 106125688 106125688 A G rs143588185 CFAP58 Synonymous SNV E238E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.109 103441 chr21 30331935 30331935 G A rs57646126 LTN1 Nonsynonymous SNV A799V 0.005 0 0 4 6 0 0.01 0 0 0 0 0 23.7 103442 chr14 105407931 105407931 C T rs151077903 AHNAK2 Synonymous SNV E4519E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.664 103443 chr14 105419986 105419986 C T rs74528304 AHNAK2 Nonsynonymous SNV G501D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 103444 chr14 105609359 105609359 C T rs35304114 JAG2 Synonymous SNV P1092P 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Benign 11.5 103445 chr10 115343057 115343057 G C rs11575688 HABP2 Nonsynonymous SNV E367Q 0.016 0.018 0.014 2 19 7 0.005 4 0 0 0 0 Likely benign 23.3 103446 chr10 101645476 101645476 G A DNMBP Nonsynonymous SNV R888C 0.002 0 0 0 2 0 0 0 0 0 0 0 31 103447 chr14 105965156 105965156 C T rs139837113 TEDC1 Nonsynonymous SNV T352M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 103448 chrX 153052335 153052335 T C IDH3G Nonsynonymous SNV N282S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 103449 chr8 144947235 144947235 G A rs201041885 EPPK1 Stop gain Q63X 0.002 0.008 0 0 2 3 0 0 0 0 0 0 35 103450 chrX 153583046 153583046 G A rs56102764 FLNA Nonsynonymous SNV P1743S 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 1 Conflicting interpretations of pathogenicity 0.087 103451 chrX 154124409 154124409 A G F8 Synonymous SNV Y2124Y 0.001 0 0 2 1 0 0.005 0 0 0 0 1 4.902 103452 chrX 154194709 154194709 G A rs145623784 F8 Synonymous SNV P421P 0.003 0.005 0 0 3 2 0 0 1 0 0 0 1.784 103453 chr8 145002070 145002070 G A rs145376880 PLEC Synonymous SNV A1103A 0.019 0.023 0.034 13 22 9 0.033 10 1 1 0 0 Benign 12.31 103454 chr11 1017974 1017974 C G rs200353019 MUC6 Nonsynonymous SNV Q1609H 0.007 0.005 0 0 8 2 0 0 0 0 0 0 1.064 103455 chr14 20767456 20767456 C T TTC5 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 103456 chr14 20837053 20837053 C T rs2228034 TEP1 Synonymous SNV S2447S 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Benign 19.13 103457 chr14 20841193 20841193 C A rs35929175 TEP1 Nonsynonymous SNV A2202S 0 0 0.003 4 0 0 0.01 1 0 0 0 0 23.6 103458 chr14 20841669 20841669 G C rs115334953 TEP1 Synonymous SNV L2118L 0 0 0.003 4 0 0 0.01 1 0 0 0 0 7.436 103459 chr14 20845834 20845834 C A rs111442503 TEP1 Nonsynonymous SNV A1826S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 103460 chr8 145095305 145095305 G A rs572527417 SPATC1 Nonsynonymous SNV R236H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.89 103461 chr8 145101750 145101750 G A SPATC1 Nonsynonymous SNV V557M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 103462 chr14 20852255 20852255 G T rs145944940 TEP1 Nonsynonymous SNV P1051H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 103463 chr10 119798857 119798857 G A rs142702621 RAB11FIP2 Synonymous SNV F297F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.388 103464 chr14 20869705 20869705 C A rs17111188 TEP1 Nonsynonymous SNV K326N 0.005 0 0.014 3 6 0 0.008 4 0 0 0 0 13.22 103465 chr21 37600103 37600103 G A rs138277507 DOP1B Synonymous SNV T531T 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.67 103466 chr8 145170489 145170489 G T rs1006893122 WDR97 Synonymous SNV T1441T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.515 103467 chr10 1038484 1038484 A G GTPBP4 Nonsynonymous SNV H35R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 103468 chr10 104111605 104111605 A G rs758757784 GBF1 Synonymous SNV L140L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.432 103469 chr8 145617694 145617694 C - ADCK5 V436Cfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 103470 chr10 104235648 104235648 C T rs542515565 MFSD13A Synonymous SNV S487S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 103471 chr10 104486822 104486822 C T rs35094483 SFXN2 Synonymous SNV P80P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.77 103472 chr8 145657780 145657780 C T rs782604187 TONSL Nonsynonymous SNV R1208K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 103473 chr10 124045679 124045679 T C rs865872269 BTBD16 Nonsynonymous SNV S102P 0.005 0 0 0 6 0 0 0 0 0 0 0 25.1 103474 chr10 105361871 105361871 C T rs3781365 SH3PXD2A Nonsynonymous SNV R916Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 103475 chr21 42811635 42811635 G A rs140022520 MX1 Nonsynonymous SNV A151T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.5 103476 chr21 42839661 42839661 C T rs142750000 TMPRSS2 Synonymous SNV R526R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 12.84 103477 chr11 102595509 102595509 T C rs140011275 MMP8 Synonymous SNV K26K 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Benign 0.002 103478 chr10 106214189 106214189 C G rs146139460 CFAP58 Nonsynonymous SNV D840E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 103479 chr10 127737958 127737958 T C rs77297117 ADAM12 Nonsynonymous SNV N594S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 103480 chr10 112361532 112361532 C A rs202034783 SMC3 Synonymous SNV R928R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.85 103481 chr10 127967548 127967548 C T rs140373673 ADAM12 Nonsynonymous SNV E66K 0.008 0.003 0 0 9 1 0 0 0 0 0 0 5.058 103482 chr10 11505125 11505125 T G rs371973255 USP6NL Nonsynonymous SNV N618T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 103483 chr10 129902651 129902651 G A rs770068266 MKI67 Nonsynonymous SNV P2125S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 103484 chr10 13276240 13276240 C T rs201998578 UCMA Nonsynonymous SNV V7I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 103485 chr10 135015388 135015388 G A rs763603914 KNDC1 Nonsynonymous SNV D1125N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.18 103486 chr10 129905401 129905401 A G rs751727402 MKI67 Nonsynonymous SNV L1208S 0.004 0 0 0 5 0 0 0 0 0 0 0 10.79 103487 chr10 129905519 129905519 T C rs200474552 MKI67 Nonsynonymous SNV K1169E 0.004 0 0 0 5 0 0 0 0 0 0 0 15.2 103488 chr10 115612770 115612770 T C rs17235066 DCLRE1A Nonsynonymous SNV K58E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.071 103489 chr10 115663475 115663475 G A rs74157540 NHLRC2 Nonsynonymous SNV E562K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.66 103490 chr10 134161852 134161852 C T rs370761934 LRRC27 Synonymous SNV H179H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.66 103491 chr10 116057112 116057112 C T rs149846490 AFAP1L2 Nonsynonymous SNV G642D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.013 103492 chr14 24843658 24843658 T C rs139623648 NFATC4 Nonsynonymous SNV I620T 0 0 0.003 0 0 0 0 1 0 0 0 0 21 103493 chr10 14885475 14885475 A G rs952524028 HSPA14 Synonymous SNV G109G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.194 103494 chr10 16930419 16930419 C G rs45569534 CUBN Nonsynonymous SNV E2968Q 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 Benign 23.3 103495 chr8 22262357 22262357 A G rs776398683 SLC39A14 Nonsynonymous SNV Q45R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.32 103496 chr10 135025035 135025035 G A rs758201955 KNDC1 Nonsynonymous SNV G1340R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 103497 chr8 22447167 22447167 C T rs756547931 PDLIM2 Synonymous SNV L226L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.83 103498 chr21 46306807 46306807 T G ITGB2 Synonymous SNV A697A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.982 103499 chr11 113230719 113230719 G A TTC12 Nonsynonymous SNV G510R 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 22.8 103500 chr10 15650274 15650274 T C rs147340964 ITGA8 Synonymous SNV V508V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.983 103501 chr10 16526414 16526414 G A rs146692031 PTER Nonsynonymous SNV V11I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 103502 chr10 13699134 13699151 CGCCCCCCGCGCCCCCCG - rs760384606 FRMD4A A504_G509del 0.003 0 0 0 3 0 0 0 0 0 0 0 103503 chr10 123847394 123847394 C T rs758141860 TACC2 Synonymous SNV C1793C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 103504 chr10 125521424 125521424 T C rs148621668 CPXM2 Nonsynonymous SNV T581A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 103505 chr10 27389077 27389077 G A rs375207762 ANKRD26 Nonsynonymous SNV A60V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 103506 chr10 18827138 18827138 C G CACNB2 Nonsynonymous SNV N389K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 103507 chr10 21805697 21805697 - GGT rs775892481 SKIDA1 H351_R352insH 0.002 0 0 0 2 0 0 0 0 0 0 0 103508 chr10 22048139 22048139 C A DNAJC1 Nonsynonymous SNV R519L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 103509 chr9 19435011 19435011 T C rs41270115 ACER2 Synonymous SNV P144P 0.008 0.013 0.017 11 9 5 0.028 5 0 0 0 0 1.306 103510 chr11 119004904 119004904 C T rs201536739 HINFP Nonsynonymous SNV T211M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.01 103511 chr14 51372120 51372120 T C rs78558135 PYGL Nonsynonymous SNV N811S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 4.532 103512 chr14 51383751 51383751 G A rs35501326 PYGL Nonsynonymous SNV R276C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 35 103513 chr8 29990075 29990075 C T rs16876563 MBOAT4 Nonsynonymous SNV G231E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.058 103514 chr8 29994790 29994790 G A rs74960438 LEPROTL1 Nonsynonymous SNV M94I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.004 103515 chr8 29994923 29994923 G A rs77053651 LEPROTL1 Nonsynonymous SNV V139M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.2 103516 chr8 30546765 30546765 T A rs8191005 GSR Synonymous SNV P289P 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Likely benign 7.752 103517 chr8 30557599 30557599 C T rs8190976 GSR Nonsynonymous SNV G232S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.989 103518 chr14 53187677 53187677 A G rs148193630 PSMC6 Synonymous SNV P191P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 6.135 103519 chr8 30938692 30938692 G T rs4987238 WRN Nonsynonymous SNV L383F 0.003 0.008 0.017 1 4 3 0.003 5 0 0 0 0 Conflicting interpretations of pathogenicity 0.207 103520 chr9 27197588 27197588 C T rs35378598 TEK Nonsynonymous SNV L487F 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 16.49 103521 chr8 30998961 30998961 G A rs140768346 WRN Nonsynonymous SNV A995T 0.003 0.008 0.017 0 4 3 0 5 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 103522 chr8 31012237 31012237 C G rs78488552 WRN Nonsynonymous SNV T1262R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 103523 chr10 13217636 13217636 C T rs35586085 MCM10 Nonsynonymous SNV T240M 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 7.129 103524 chr14 55817153 55817153 C G rs560778845 FBXO34 Synonymous SNV P15P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.848 103525 chr8 3265513 3265513 G A CSMD1 Nonsynonymous SNV P660L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 103526 chr11 120973430 120973430 A G rs35507522 TECTA Nonsynonymous SNV Q19R 0.02 0.005 0.027 10 24 2 0.026 8 0 0 0 1 Benign/Likely benign 0.133 103527 chr22 21989289 21989289 C T rs141095413 CCDC116 Synonymous SNV L313L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.989 103528 chr9 32485235 32485235 T C DDX58 Nonsynonymous SNV Y473C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 103529 chr10 29756605 29756605 G A rs146513392 SVIL-AS1 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 3.865 103530 chr10 30315930 30315930 C G rs78569749 JCAD Synonymous SNV R1049R 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 8.917 103531 chr8 37991061 37991061 T C rs768831081 ASH2L Synonymous SNV S400S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.22 103532 chr22 22869626 22869626 G A rs144599536 ZNF280A Nonsynonymous SNV S110L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 16.71 103533 chr22 23401684 23401684 G T rs145771609 RSPH14 Synonymous SNV R335R 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 5.867 103534 chr22 23401770 23401770 C T rs34263197 RSPH14 Nonsynonymous SNV R306H 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 32 103535 chr11 123813696 123813696 G A rs772111142 OR6T1 Nonsynonymous SNV L284F 0.005 0.008 0 0 6 3 0 0 0 0 0 0 17.49 103536 chr11 123847579 123847579 G A rs147044490 OR10S1 Synonymous SNV L274L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.291 103537 chr9 37532029 37532029 G A rs16934263 FBXO10 Synonymous SNV Y482Y 0.011 0.021 0.027 9 13 8 0.023 8 0 0 2 0 17.38 103538 chr14 64468721 64468721 C T rs373420375 SYNE2 Synonymous SNV G1236G 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 9.992 103539 chr8 53853422 53853422 C T rs36068168 NPBWR1 Nonsynonymous SNV R319C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 33 103540 chr14 65511421 65511421 G T rs72728267 MIR4706 0 0 0.017 0 0 0 0 5 0 0 0 0 6.391 103541 chr8 61765566 61765566 A G rs41312172 CHD7 Synonymous SNV G2094G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 6.435 103542 chr10 15614323 15614323 C T rs202138436 ITGA8 Nonsynonymous SNV V827M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 103543 chr10 45907672 45907672 C T ALOX5 Synonymous SNV S155S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.92 103544 chr10 45959131 45959131 G A rs147126303 MARCHF8 Nonsynonymous SNV L186F 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 11.24 103545 chr10 16930461 16930461 G C rs139931862 CUBN Nonsynonymous SNV P2954A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 103546 chr10 46965077 46965077 C T rs372494739 LOC102724488, SYT15 Nonsynonymous SNV D174N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.76 103547 chr10 17110722 17110722 G A rs386833778 CUBN Synonymous SNV C891C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.724 103548 chr14 70238067 70238067 T C rs151038289 SRSF5 Synonymous SNV P236P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.266 103549 chr10 19572091 19572091 C T rs759545843 MALRD1 Nonsynonymous SNV P1134S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 103550 chr8 67922944 67922952 CACTACCTT - rs768430729 PPP1R42 K101_V103del 0 0.003 0 0 0 1 0 0 0 0 0 0 103551 chr8 68076688 68076688 A G rs772949501 CSPP1 Nonsynonymous SNV R575G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.9 103552 chr22 29925221 29925221 C T rs2302140 THOC5 Synonymous SNV T285T 0.012 0.008 0.007 0 14 3 0 2 1 0 0 0 18.21 103553 chr22 30077514 30077514 G C NF2 Nonsynonymous SNV R471T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 27.9 103554 chr10 21805899 21805899 G A SKIDA1 Nonsynonymous SNV P285S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.044 103555 chr9 79244207 79244207 C A rs77066968 PRUNE2 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 103556 chr10 48386007 48386007 T C rs149900201 RBP3 Nonsynonymous SNV I1029V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.02 103557 chr8 73993364 73993364 G A rs374970239 SBSPON Nonsynonymous SNV S100L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.9 103558 chr10 4868541 4868541 C G AKR1E2 Nonsynonymous SNV L9V 0.004 0 0 0 5 0 0 0 0 0 0 0 23.5 103559 chr10 5138709 5138709 C T rs140618199 AKR1C3 Synonymous SNV A64A 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 11.94 103560 chr10 26241205 26241205 C T rs752647752 MYO3A Nonsynonymous SNV H56Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 103561 chr14 75376397 75376397 G A rs56358343 RPS6KL1 Synonymous SNV A373A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.133 103562 chr10 27459948 27459948 A G rs41282224 MASTL Nonsynonymous SNV Y687C 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Benign 7.599 103563 chr10 55582134 55582136 AGG - rs778824364 PCDH15 P1744del 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 103564 chr9 79999548 79999550 TGA - rs142234061 VPS13A D3089del 0.02 0.023 0.014 8 23 9 0.021 4 0 0 0 0 103565 chr10 5790163 5790163 C T rs368396539 TASOR2 Synonymous SNV S1512S 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 7.147 103566 chr9 84200481 84200481 A T rs761998220 TLE1 Synonymous SNV P699P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.252 103567 chr14 77732623 77732623 A - rs28909969 MIR1260A 0 0 0.034 0 0 0 0 10 0 0 0 0 103568 chr10 5925973 5925973 C A rs61729848 ANKRD16 Nonsynonymous SNV G216W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 28.7 103569 chr9 88938668 88938668 G A rs61730257 TUT7 Nonsynonymous SNV T543I 0.019 0.018 0.01 10 22 7 0.026 3 0 0 0 0 0.019 103570 chr22 32232970 32232970 C T DEPDC5 Nonsynonymous SNV S650F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.4 103571 chr10 52603754 52603754 A G rs35967725 A1CF Synonymous SNV C76C 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Benign 4.755 103572 chr10 5782098 5782098 A G rs368818921 TASOR2 Synonymous SNV S574S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.021 103573 chr10 68280453 68280453 T A rs140913916 CTNNA3 Nonsynonymous SNV T485S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 10.74 103574 chr10 69935157 69935157 A G MYPN Nonsynonymous SNV N881S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.85 103575 chr11 17122931 17122931 C T rs748360915 PIK3C2A Nonsynonymous SNV G921E 0.002 0 0 0 2 0 0 0 0 0 0 0 34 103576 chr11 17378411 17378411 T G rs564562856 NCR3LG1 Nonsynonymous SNV V95G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.1 103577 chr22 38121227 38121227 A G rs149390662 TRIOBP Synonymous SNV Q888Q 0.014 0.008 0 3 17 3 0.008 0 0 0 0 0 4.251 103578 chr8 98788275 98788275 A G rs374973028 LAPTM4B Nonsynonymous SNV N13S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.989 103579 chr10 61827718 61827718 G A rs138073935 ANK3 Synonymous SNV A619A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.53 103580 chr14 93398894 93398894 G A rs771215098 CHGA Nonsynonymous SNV E179K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 103581 chr22 38153785 38153785 G A rs55821172 TRIOBP Synonymous SNV L238L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.733 103582 chr9 100692841 100692841 G T rs140700506 HEMGN Nonsynonymous SNV A279E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.587 103583 chr22 38528888 38528888 C T rs11570680 PLA2G6 Nonsynonymous SNV A117T 0.009 0.013 0.024 8 10 5 0.021 7 0 0 0 0 Benign/Likely benign 21.2 103584 chr10 35929272 35929272 C G FZD8 Synonymous SNV A362A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 103585 chrX 106840661 106840661 C T rs764797433 FRMPD3 Nonsynonymous SNV P551S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.233 103586 chr10 71969017 71969017 A T rs11538283 PPA1 Synonymous SNV T223T 0.003 0.005 0 6 4 2 0.015 0 0 0 0 1 5.358 103587 chr14 95054130 95054130 C A SERPINA5 Nonsynonymous SNV T144N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.114 103588 chr10 70405309 70405309 C T rs113056971 TET1 Synonymous SNV L941L 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 1.541 103589 chrX 114414073 114414073 C T rs111460344 LRCH2 Nonsynonymous SNV E261K 0 0.005 0.007 1 0 2 0.003 2 0 1 1 0 22.1 103590 chr10 71649190 71649190 C T rs776392997 COL13A1 Synonymous SNV G152G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.41 103591 chr10 71868934 71868934 C G rs114660578 H2AFY2 Synonymous SNV S308S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 12.99 103592 chr14 98218276 98218276 G A rs74398424 LINC02312 0 0 0.02 0 0 0 0 6 0 0 0 0 6.239 103593 chr10 73111452 73111452 G A rs752487563 SLC29A3 Nonsynonymous SNV V173M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.2 103594 chrX 119509371 119509371 C G ATP1B4 Nonsynonymous SNV P236R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 103595 chr9 107298115 107298115 C T rs768434353 OR13C3 Nonsynonymous SNV S327N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 103596 chr11 19955110 19955110 G A rs148875394 NAV2 Synonymous SNV E376E 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.416 103597 chrX 12724965 12724965 G A rs140428359 FRMPD4 Synonymous SNV K366K 0.003 0.013 0 2 4 5 0.005 0 0 2 0 0 10.18 103598 chr9 111617389 111617389 C T rs10979557 ACTL7B Synonymous SNV P274P 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 7.213 103599 chr9 111618106 111618106 C T rs34113222 ACTL7B Synonymous SNV A35A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 2.698 103600 chr22 43024170 43024170 A G CYB5R3 Nonsynonymous SNV Y151H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 103601 chr10 75561166 75561166 G T ZSWIM8 Nonsynonymous SNV A1771S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.672 103602 chr15 101436161 101436161 G A rs61757679 ALDH1A3 Synonymous SNV V123V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 14.37 103603 chr10 75675086 75675086 T C rs72816325 PLAU Nonsynonymous SNV Y333H 0.009 0.01 0.01 3 11 4 0.008 3 1 0 0 0 Benign/Likely benign 26.4 103604 chr15 101847615 101847615 C T rs117972449 LOC100507472 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.413 103605 chr15 21938082 21938082 G A rs28655354 LOC646214 0 0 0.102 0 0 0 0 30 0 0 0 0 1.926 103606 chr10 76468202 76468202 G A rs148819558 ADK Synonymous SNV X328X 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 Benign/Likely benign 11.01 103607 chr15 23811475 23811475 C T rs200863828 MKRN3 Synonymous SNV A182A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 103608 chr10 73511557 73511557 C T rs767882153 VSIR Nonsynonymous SNV E256K 0.005 0 0 0 6 0 0 0 0 0 0 0 27.9 103609 chr9 113169968 113169968 C T rs150389025 SVEP1 Nonsynonymous SNV D2638N 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 7.029 103610 chr10 79742518 79742518 C T rs746562221 POLR3A Nonsynonymous SNV G1163S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.39 103611 chr15 25335138 25335138 G A rs139457759 SNORD116-22 0 0 0.01 0 0 0 0 3 0 0 0 0 15.72 103612 chr10 55663054 55663054 G T rs146374856 PCDH15 Synonymous SNV I1079I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.01 103613 chr15 25488584 25488584 G C rs1054131292 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 103614 chr15 25488598 25488598 T C rs77043068 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.358 103615 chr15 25488599 25488599 G A SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 103616 chr15 25488609 25488609 C T SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 1.921 103617 chr15 25492383 25492383 T G rs971351755 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 3.168 103618 chr15 25492396 25492396 G A rs973737510 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 103619 chr10 74594137 74594137 C T rs147667372 MCU Synonymous SNV S57S 0.014 0 0.003 5 17 0 0.013 1 0 0 0 0 15.81 103620 chr10 74894377 74894377 G A rs141955182 ECD Synonymous SNV T590T 0.004 0 0 0 5 0 0 0 0 0 0 0 12.72 103621 chr11 26681856 26681856 C T rs117748217 ANO3 Synonymous SNV D791D 0.013 0.013 0.007 3 15 5 0.008 2 0 0 0 0 Benign 16.41 103622 chr10 87379713 87379713 C T rs774213483 GRID1 Synonymous SNV S757S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.82 103623 chrX 150842630 150842630 C T rs143262698 PASD1 Nonsynonymous SNV T716I 0.005 0.003 0 1 6 1 0.003 0 1 0 0 0 16.76 103624 chr10 76910411 76910411 T C SAMD8 Nonsynonymous SNV I42T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.11 103625 chr10 81372166 81372166 C G rs1136452 SFTPA1 Nonsynonymous SNV P91A 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 Benign 21.4 103626 chrX 151815539 151815539 T C rs782312786 GABRQ Nonsynonymous SNV L146P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 103627 chr10 67726370 67726370 A G CTNNA3 Synonymous SNV A800A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.69 103628 chr9 117808721 117808721 C G rs61734387 TNC Nonsynonymous SNV R1698P 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 Likely benign 28 103629 chr9 117822082 117822082 C T rs150846353 TNC Synonymous SNV T1411T 0 0.005 0 0 0 2 0 0 0 0 0 0 11.5 103630 chrX 153588659 153588659 G A rs368009936 FLNA Synonymous SNV P1168P 0.005 0.003 0 2 6 1 0.005 0 2 0 0 0 Benign 4.975 103631 chr15 40564475 40564475 G A rs146266050 BUB1B-PAK6, PAK6 Synonymous SNV V303V 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 11.32 103632 chr10 71175920 71175920 C T rs151093941 TACR2 Nonsynonymous SNV V54I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 103633 chr22 50356497 50356497 G A rs118127603 PIM3 Synonymous SNV R259R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.235 103634 chr10 93999199 93999199 C T rs529610235 CPEB3 Synonymous SNV P303P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.32 103635 chr10 94834700 94834700 A G rs140717057 CYP26A1 Synonymous SNV L193L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.276 103636 chrX 21675856 21675856 G A rs755595762 KLHL34 Synonymous SNV T17T 0 0 0.007 1 0 0 0.003 2 0 0 1 0 7.252 103637 chr10 91163129 91163129 T G rs141445961 IFIT1 Nonsynonymous SNV L366W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 103638 chr10 90575223 90575223 T C rs3910680 LIPM Nonsynonymous SNV L274S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.22 103639 chr15 40861965 40861965 G C rs34974852 RPUSD2 Synonymous SNV R143R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.525 103640 chr15 41149074 41149074 - CAC rs547972507 SPINT1 H485_P486insH 0.001 0 0.003 0 1 0 0 1 0 0 0 0 103641 chr15 41812738 41812738 C T rs139817632 RPAP1 Nonsynonymous SNV D1216N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.3 103642 chr22 50845173 50845173 C T rs143049560 PPP6R2 Nonsynonymous SNV R95C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 103643 chr10 70502323 70502323 T C CCAR1 Nonsynonymous SNV L157P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 103644 chr10 91465181 91465181 G T rs368331856 KIF20B Nonsynonymous SNV V44F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.9 103645 chr10 97078116 97078116 C T rs147738377 SORBS1 Nonsynonymous SNV V650I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 103646 chrX 30872400 30872400 C T rs754733085 TAB3 Nonsynonymous SNV R461Q 0.003 0.003 0 6 4 1 0.015 0 1 0 0 2 24.4 103647 chr10 94267386 94267386 G A IDE Synonymous SNV Y358Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.408 103648 chrX 2877732 2877732 C T rs61733257 ARSL Nonsynonymous SNV V4M 0.006 0.013 0.014 1 7 5 0.003 4 1 2 2 0 0.477 103649 chr15 42630672 42630672 G A rs369604578 GANC Synonymous SNV G609G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.888 103650 chrX 47426049 47426049 A C rs954175243 ARAF Nonsynonymous SNV Q193P 0.001 0.005 0 3 1 2 0.008 0 0 1 0 1 6.026 103651 chr10 97031477 97031477 T A PDLIM1 Nonsynonymous SNV D54V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 30 103652 chrX 47835762 47835762 C A ZNF182 Nonsynonymous SNV C556F 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 103653 chr9 128069703 128069703 C A rs13299973 GAPVD1 Synonymous SNV A376A 0.028 0.031 0.02 8 33 12 0.021 6 0 0 0 0 18.74 103654 chrX 12939122 12939122 C T rs762965940 TLR8 Nonsynonymous SNV P655S 0.004 0 0 0 5 0 0 0 2 0 0 0 20.2 103655 chr10 8007325 8007325 G T rs368439719 TAF3 Nonsynonymous SNV D618Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 103656 chr15 45436289 45436289 G T rs751316671 DUOX1 Nonsynonymous SNV Q664H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.651 103657 chr9 130167793 130167793 C T rs371704540 SLC2A8 Synonymous SNV L252L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.5 103658 chrX 53105832 53105832 A G GPR173 Nonsynonymous SNV E10G 0.001 0 0 5 1 0 0.013 0 0 0 0 2 10.75 103659 chrX 54028688 54028688 A G PHF8 Synonymous SNV Y383Y 0.001 0 0 5 1 0 0.013 0 0 0 0 2 0.161 103660 chr9 130286118 130286118 C A rs141182179 NIBAN2 Synonymous SNV T130T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.53 103661 chrX 19009014 19009014 G A ADGRG2 Nonsynonymous SNV R970W 0.003 0 0 0 4 0 0 0 1 0 0 0 24.3 103662 chrX 55515226 55515226 C T rs372087389 USP51 Synonymous SNV S49S 0.001 0 0 5 1 0 0.013 0 0 0 0 2 12.24 103663 chrX 65418789 65418789 G A rs17216603 HEPH Nonsynonymous SNV A328T 0.024 0.034 0.01 21 28 13 0.054 3 9 4 1 7 13 103664 chr15 51914720 51914720 G C rs75378828 DMXL2 Nonsynonymous SNV T8S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.77 103665 chr9 131077873 131077873 G A rs145727389 TRUB2 Synonymous SNV T73T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 103666 chrX 83141579 83141579 A G rs140033406 CYLC1 Nonsynonymous SNV H65R 0.013 0.008 0.027 2 15 3 0.005 8 3 1 3 0 7.877 103667 chr11 1017307 1017307 G A rs372717767 MUC6 Nonsynonymous SNV P1832S 0.002 0.005 0.01 2 2 2 0.005 3 0 0 0 0 13.1 103668 chrX 85403731 85403731 C T rs147377892 DACH2 Nonsynonymous SNV P36L 0.004 0.005 0 3 5 2 0.008 0 0 1 0 0 21.3 103669 chrX 99661923 99661923 T A PCDH19 Nonsynonymous SNV D558V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 103670 chr10 85997133 85997133 C T rs193025824 LRIT1 Synonymous SNV S144S 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 8.957 103671 chrX 48337472 48337472 C T FTSJ1 Nonsynonymous SNV A110V 0.005 0 0 0 6 0 0 0 2 0 0 0 Uncertain significance 25.6 103672 chr9 133928352 133928352 G A rs144242690 LAMC3 Nonsynonymous SNV G647S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.1 103673 chr15 63414261 63414261 C G rs769320798 LACTB Nonsynonymous SNV A64G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.38 103674 chr15 63908071 63908071 C G rs563489663 HERC1 Nonsynonymous SNV V4664L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.7 103675 chrX 49079179 49079179 T G rs141159097 CACNA1F Nonsynonymous SNV N735T 0.003 0 0.014 0 4 0 0 4 1 0 2 0 Likely benign 26.1 103676 chr15 64455123 64455123 G T rs4904 PPIB Synonymous SNV S21S 0.02 0.018 0.024 6 24 7 0.015 7 1 0 0 0 Benign 15.11 103677 chr9 134165498 134165498 G A rs151095002 PLPP7 Synonymous SNV S38S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.032 103678 chr10 96306220 96306220 G A HELLS Nonsynonymous SNV A40T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.66 103679 chr10 101578603 101578603 C T rs145486802 ABCC2 Synonymous SNV Y776Y 0.003 0 0 0 4 0 0 0 0 0 0 0 2.22 103680 chr10 97380947 97380947 C T rs144816455 ALDH18A1 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.9 103681 chr9 134458062 134458062 C T RAPGEF1 Nonsynonymous SNV D979N 0 0.003 0 0 0 1 0 0 0 0 0 0 35 103682 chrX 70341499 70341499 G C rs377403264 MED12 Nonsynonymous SNV V312L 0.004 0 0 0 5 0 0 0 1 0 0 0 Benign/Likely benign 0.047 103683 chrX 71358432 71358432 T C rs192452899 NHSL2 Nonsynonymous SNV L345P 0.003 0 0 0 4 0 0 0 1 0 0 0 22.6 103684 chr11 102482504 102482504 T G rs17099008 MMP20 Nonsynonymous SNV I169L 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Benign 23.7 103685 chr15 68582432 68582432 C A rs148564851 FEM1B Synonymous SNV R246R 0.009 0 0.01 2 11 0 0.005 3 1 0 0 0 16.66 103686 chr15 68599961 68599961 T C rs144461728 ITGA11 Nonsynonymous SNV H1083R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.099 103687 chr11 107403039 107403039 G A rs555062211 ALKBH8 Nonsynonymous SNV L292F 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 25.5 103688 chr11 107943076 107943076 T A CUL5 Nonsynonymous SNV S298T 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 19.41 103689 chr10 96534863 96534863 C A rs145328984 CYP2C19 Nonsynonymous SNV R73S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 103690 chr11 103153758 103153758 G C rs116872934 DYNC2H1 Nonsynonymous SNV D3612H 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 Benign/Likely benign 22.9 103691 chr11 108202754 108202754 A G rs587779867 ATM Nonsynonymous SNV Q2593R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Uncertain significance 11.69 103692 chr11 104762062 104762062 C T rs200223916 CASP12 Nonsynonymous SNV V168M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.7 103693 chr15 73616167 73616167 G T rs745617328 HCN4 Nonsynonymous SNV A756E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 103694 chrX 100117758 100117758 C T rs376946278 NOX1 Nonsynonymous SNV R93Q 0.006 0.003 0 0 7 1 0 0 2 0 0 0 7.246 103695 chr11 5364207 5364207 A G rs202021286 OR51B5 Nonsynonymous SNV I183T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26.5 103696 chr9 138669264 138669264 C T rs139114208 KCNT1 Synonymous SNV A765A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 15.51 103697 chr10 112356199 112356199 T C rs147404470 SMC3 Synonymous SNV Y669Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 0.066 103698 chrX 105450049 105450049 C T rs748509712 PWWP3B Synonymous SNV N208N 0.006 0.003 0 0 7 1 0 0 2 0 0 0 6.679 103699 chrX 106146511 106146511 A G rs371828879 RIPPLY1 Nonsynonymous SNV S3P 0.006 0.003 0 0 7 1 0 0 2 0 0 0 14.62 103700 chrX 106312558 106312558 C A rs191625531 RBM41 Nonsynonymous SNV E334D 0.006 0.003 0 0 7 1 0 0 2 0 0 0 25 103701 chr11 108139303 108139303 G C rs55934812 ATM Synonymous SNV T935T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.701 103702 chrX 112059021 112059021 G C AMOT Synonymous SNV S319S 0.006 0 0 2 7 0 0.005 0 2 0 0 1 4.374 103703 chr11 111166921 111166921 A G rs60504131 COLCA1 Synonymous SNV L95L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.182 103704 chr15 76726552 76726552 C T rs199698808 SCAPER Nonsynonymous SNV V814I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 103705 chr11 107326420 107326420 A G CWF19L2 Nonsynonymous SNV V63A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 103706 chr9 139360442 139360442 G A rs199886294 SEC16A Synonymous SNV A1425A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.703 103707 chr11 1087573 1087573 C T rs768500439 MUC2 Synonymous SNV C1108C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 103708 chr11 1097838 1097838 G A rs200823008 MUC2 Nonsynonymous SNV V2311I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 103709 chr11 10875764 10875764 T G rs932153492 ZBED5 Synonymous SNV L243L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.316 103710 chr10 118894014 118894014 C T rs778162175 VAX1 Synonymous SNV S170S 0.003 0 0 0 4 0 0 0 0 0 0 0 14.72 103711 chr11 55579306 55579306 C T rs149851583 OR5L1 Nonsynonymous SNV R122C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 103712 chr11 102479669 102479669 G A rs11225343 MMP20 Synonymous SNV Y270Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.002 103713 chrX 140994116 140994116 C G rs141900922 MAGEC1 Nonsynonymous SNV S309C 0.008 0.008 0.01 5 9 3 0.013 3 1 1 1 1 12.78 103714 chr11 55798259 55798259 G A rs12224086 OR5AS1 Nonsynonymous SNV R122H 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 25.1 103715 chr11 102573521 102573521 A G rs113916966 MMP27 Synonymous SNV H194H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.156 103716 chr11 113650901 113650901 C T rs772247740 CLDN25 Synonymous SNV S128S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.636 103717 chr11 119510664 119510664 C T rs752216575 NECTIN1 Synonymous SNV V354V 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 8.739 103718 chr11 102987322 102987322 A G rs116666272 DYNC2H1 Synonymous SNV L215L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign/Likely benign 0.986 103719 chr11 11374428 11374428 C T rs757842632 CSNK2A3 Nonsynonymous SNV R80H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 103720 chr11 1031874 1031874 C T rs199597560 MUC6 Nonsynonymous SNV V99M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 11.44 103721 chr11 118769195 118769195 G A rs748256900 BCL9L Nonsynonymous SNV R1477C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 103722 chr11 118886638 118886638 G C RPS25 Nonsynonymous SNV L99V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 103723 chr11 114450894 114450894 C T rs529209406 NXPE4 Synonymous SNV T353T 0.005 0.008 0 0 6 3 0 0 0 0 0 0 12.68 103724 chr15 86087095 86087095 G A rs74502151 AKAP13 Nonsynonymous SNV G191R 0.013 0.023 0.014 4 15 9 0.01 4 0 0 0 0 33 103725 chrX 152806822 152806822 G A rs149114271 ATP2B3 Nonsynonymous SNV A72T 0.012 0.008 0 1 14 3 0.003 0 2 0 0 0 Uncertain significance 8.953 103726 chr11 1075722 1075722 G A rs201511616 MUC2 Nonsynonymous SNV G50R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 103727 chr15 86311959 86311959 G A rs777887327 KLHL25 Synonymous SNV Y361Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 103728 chr11 117280451 117280451 C T rs758693012 CEP164 Nonsynonymous SNV S1284L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 14.98 103729 chr11 118235911 118235911 A T UBE4A Nonsynonymous SNV Q39L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.33 103730 chr10 127461198 127461198 C T MMP21 Synonymous SNV T273T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.36 103731 chr11 10874853 10874853 C T rs149344014 ZBED5 Nonsynonymous SNV S547N 0.017 0.016 0.017 6 20 6 0.015 5 0 0 0 0 15.34 103732 chr11 119146841 119146841 G T CBL Nonsynonymous SNV G335V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 103733 chr9 19080599 19080599 G C rs71508773 HAUS6 Synonymous SNV V314V 0.009 0.005 0.017 2 10 2 0.005 5 0 0 0 0 8.406 103734 chr15 89758310 89758310 T G RLBP1 Nonsynonymous SNV Q169P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 103735 chr11 118765282 118765282 C T rs45513292 CXCR5 Synonymous SNV T298T 0.012 0.005 0.007 4 14 2 0.01 2 0 0 0 0 10.6 103736 chr11 1018399 1018399 C G rs61742414 MUC6 Nonsynonymous SNV A1468P 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.001 103737 chr11 1018406 1018406 A T rs760409699 MUC6 Synonymous SNV P1465P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.006 103738 chr11 118968185 118968185 A C rs138544311 DPAGT1 Nonsynonymous SNV F332V 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.5 103739 chr15 90137713 90137713 C A rs919848685 TICRR Nonsynonymous SNV L536I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 103740 chr11 1031037 1031037 G A MUC6 Synonymous SNV H198H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 103741 chr11 124747839 124747839 G T rs75098003 ROBO3 Nonsynonymous SNV G47V 0.006 0.005 0.02 4 7 2 0.01 6 0 0 0 0 Conflicting interpretations of pathogenicity 27.9 103742 chr10 102051114 102051114 G T PKD2L1 Nonsynonymous SNV R604S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.54 103743 chr15 90892302 90892302 T A rs8025284 GABARAPL3 0 0 0.01 0 0 0 0 3 0 0 0 0 23.1 103744 chr10 103360532 103360532 G A DPCD Nonsynonymous SNV M61I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.93 103745 chr11 12246284 12246284 T C rs148242106 MICAL2 Synonymous SNV H535H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.598 103746 chr11 12315914 12315914 C A rs201839401 MICALCL Nonsynonymous SNV F312L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.046 103747 chr11 116747002 116747002 C G SIK3 Nonsynonymous SNV E354D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 12.46 103748 chr10 134723513 134723513 G A rs566717234 CFAP46 Synonymous SNV T853T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.025 103749 chr15 93338720 93338720 T G rs66994881 ASB9P1 0 0 0.02 0 0 0 0 6 0 0 1 0 2.664 103750 chr10 134736164 134736164 G A rs117918463 CFAP46 Synonymous SNV I435I 0.019 0.005 0 6 22 2 0.015 0 0 0 0 0 7.66 103751 chr15 93749883 93749883 G A rs17540247 LOC105370980 Nonsynonymous SNV R154Q 0 0 0.116 0 0 0 0 34 0 0 4 0 7.216 103752 chr11 108381217 108381217 G T EXPH5 Nonsynonymous SNV L1485I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.604 103753 chr10 134981926 134981926 T C rs564793406 KNDC1 Nonsynonymous SNV L157P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.346 103754 chr10 134981936 134981936 C T rs550386288 KNDC1 Synonymous SNV S160S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.158 103755 chr11 111156719 111156719 T C rs61753531 C11orf53 Synonymous SNV P269P 0.01 0.008 0.017 3 12 3 0.008 5 0 0 0 0 0.009 103756 chr11 124180643 124180643 G T rs138336307 OR8D1 Nonsynonymous SNV S7Y 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 22.7 103757 chr11 119044703 119044703 C T NLRX1 Nonsynonymous SNV L249F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 103758 chr11 111908109 111908109 A G rs868959487 DLAT Nonsynonymous SNV I207M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 103759 chr9 441358 441358 C T rs201776049 DOCK8 Nonsynonymous SNV R1666W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 103760 chr11 124972033 124972033 C T rs143899984 TMEM218 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 103761 chr11 125445305 125445305 G A EI24 0.001 0 0 0 1 0 0 0 0 0 0 0 28 103762 chr9 740857 740857 G C rs148917415 KANK1 Nonsynonymous SNV A951P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 103763 chr10 24822125 24822127 GAA - rs140819336 KIAA1217 E812del 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 103764 chr16 1537533 1537533 T C rs767847539 PTX4 Nonsynonymous SNV T189A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 103765 chr10 25684912 25684912 C A rs145500194 GPR158 Nonsynonymous SNV P361T 0.002 0 0.007 0 2 0 0 2 0 0 1 0 24.1 103766 chr11 1271970 1271984 CACAACCACCACACC - rs773643124 MUC5B T4628_T4632del 0.002 0 0 0 2 0 0 0 0 0 0 0 103767 chr11 125880401 125880401 A G rs146002530 CDON Nonsynonymous SNV S463P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 0.097 103768 chr11 126318944 126318944 G T rs377273909 KIRREL3 Synonymous SNV A319A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.684 103769 chr11 129758523 129758523 T C rs1051279431 NFRKB Synonymous SNV G114G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.539 103770 chr11 18118367 18118367 G A rs150665718 SAAL1 Nonsynonymous SNV P95L 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 25.6 103771 chr11 59282922 59282922 C T rs145873782 OR4D9 Synonymous SNV C179C 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 13.48 103772 chr11 1272696 1272696 - TCCACGGCCACCGCCTCCTCCACCCCAGGGACCACCTGGATCCTCACAGAGTCGAGCACTACAGCCACCGTGACGGTGCCCACCAGC MUC5B T4870_L4871insPGTTWILTESSTTATVTVPTSSTATASST 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 103773 chr11 118890101 118890101 T C rs942621192 TRAPPC4 Star tloss M1? 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.09 103774 chr11 130773279 130773279 C G rs61759531 SNX19 Nonsynonymous SNV G155A 0.014 0.003 0.014 5 16 1 0.013 4 0 0 0 0 Benign 15.65 103775 chr10 29812899 29812899 C T rs768579770 SVIL Nonsynonymous SNV V456I 0.003 0 0 0 3 0 0 0 0 0 0 0 4.507 103776 chr11 130275912 130275912 C T ADAMTS8 Synonymous SNV T737T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.404 103777 chr11 133807726 133807726 G A rs141898147 IGSF9B Synonymous SNV L180L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.88 103778 chr9 79986015 79986015 A G rs17081163 VPS13A Synonymous SNV P2970P 0.015 0.021 0.02 6 18 8 0.015 6 0 0 0 0 Conflicting interpretations of pathogenicity 7.534 103779 chr9 80020874 80020874 C A rs117983287 VPS13A Nonsynonymous SNV H3085N 0.015 0.021 0.02 6 18 8 0.015 6 0 0 0 0 Benign 22.3 103780 chr11 14520429 14520429 T C rs772393486 COPB1 Nonsynonymous SNV M16V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 103781 chr11 133802011 133802011 G C IGSF9B Synonymous SNV T355T 0.004 0 0 0 5 0 0 0 0 0 0 0 12.55 103782 chr16 20856102 20856102 G A rs138173449 REXO5 Nonsynonymous SNV G593D 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 9.068 103783 chr16 20990865 20990865 G A rs542658669 DNAH3 Synonymous SNV V2575V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.766 103784 chr16 2103367 2103367 G A TSC2 Nonsynonymous SNV A35T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 103785 chr10 35929182 35929182 G A rs759695480 FZD8 Synonymous SNV G392G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.765 103786 chr11 17483139 17483139 G A rs569222899 ABCC8 Synonymous SNV D271D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.65 103787 chr9 91606398 91606398 C G rs201976671 C9orf47 Nonsynonymous SNV P87R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 18.46 103788 chr9 91666966 91666966 G A rs35161222 SHC3 Synonymous SNV P316P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.041 103789 chr9 91978832 91978834 TTC - rs776787101 SEMA4D K638del 0 0.003 0 0 0 1 0 0 0 0 0 0 103790 chr9 93641151 93641151 T C rs2306042 SYK Synonymous SNV N476N 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 0.336 103791 chr11 22399212 22399212 G A rs138159912 SLC17A6 Nonsynonymous SNV E559K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.76 103792 chr16 23652881 23652881 G A rs370365697 DCTN5 Synonymous SNV L6L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 103793 chr11 17793736 17793736 C T rs569972571 KCNC1 Synonymous SNV Y365Y 0.012 0.018 0 6 14 7 0.015 0 0 0 0 0 5.439 103794 chr11 18427062 18427062 G A rs137996815 LDHA Synonymous SNV L201L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 9.767 103795 chr9 95947778 95947778 T C rs764681707 WNK2 Synonymous SNV S189S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.962 103796 chr10 45430394 45430394 G A rs73279307 TMEM72 Nonsynonymous SNV D96N 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 22.5 103797 chr9 97844897 97844897 A G rs768627363 AOPEP Nonsynonymous SNV E688G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.8 103798 chr9 98774888 98774888 T C rs143936198 ERCC6L2 Synonymous SNV N1363N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.003 103799 chr10 13234523 13234523 G A rs373990822 MCM10 Nonsynonymous SNV R567Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.347 103800 chr11 193824 193824 C T rs374178760 SCGB1C1, SCGB1C2 Synonymous SNV N56N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.24 103801 chrX 104464069 104464069 C T rs111640100 TEX13A Synonymous SNV S269S 0 0.005 0 0 0 2 0 0 0 0 0 0 9.711 103802 chr11 130773241 130773241 G C rs144457394 SNX19 Nonsynonymous SNV L168V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 22.5 103803 chr16 29912518 29912518 G A rs756871445 ASPHD1 Nonsynonymous SNV A76T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 103804 chr16 29912519 29912519 C A rs751928998 ASPHD1 Nonsynonymous SNV A76D 0 0 0.003 0 0 0 0 1 0 0 0 0 23 103805 chrX 11196250 11196250 G A rs72558043 ARHGAP6 Synonymous SNV A353A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 9.706 103806 chr10 4873030 4873030 C A rs150013918 AKR1E2 Nonsynonymous SNV T68N 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 103807 chr16 3077614 3077614 G A rs747854036 THOC6 Nonsynonymous SNV V283I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 103808 chr11 32674757 32674757 A G rs79980328 CCDC73 Nonsynonymous SNV F284S 0.006 0.005 0 2 7 2 0.005 0 1 0 0 0 25.7 103809 chrX 117718744 117718744 T C DOCK11 Nonsynonymous SNV F548L 0.003 0.003 0 0 4 1 0 0 1 0 0 0 27.4 103810 chr11 22841875 22841875 C A SVIP Nonsynonymous SNV G76V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 6.931 103811 chr10 135085197 135085197 G C rs1054102694 ADAM8 Synonymous SNV P334P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.568 103812 chrX 119672060 119672060 G A rs148700620 CUL4B Synonymous SNV C619C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 1 Benign/Likely benign 10.71 103813 chr11 63533387 63533387 C T rs554234715 C11orf95 Nonsynonymous SNV G177R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 15.18 103814 chr11 637426 637426 G T rs780467485 DRD4 Nonsynonymous SNV G41V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 103815 chr11 2631692 2631692 T G rs117084069 KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.767 103816 chr16 31214193 31214193 C A rs551222342 PYCARD-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.267 103817 chr10 14862129 14862129 G T CDNF Nonsynonymous SNV D138E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 103818 chr11 2325401 2325401 C T rs1017116222 TSPAN32 Synonymous SNV A82A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.28 103819 chr16 3139693 3139693 G A rs114985173 ZSCAN10 Nonsynonymous SNV P187L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 103820 chr11 2683284 2683284 T A KCNQ1 Nonsynonymous SNV L496Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 21.5 103821 chr11 128772601 128772601 T C rs78838391 C11orf45 Nonsynonymous SNV T97A 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Benign 0.006 103822 chr11 27390219 27390219 C G rs776019185 LGR4 Nonsynonymous SNV R660T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.961 103823 chr11 292962 292962 A C rs140222962 PGGHG Nonsynonymous SNV E412A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.416 103824 chr10 5791642 5791642 C G rs61729838 TASOR2 Nonsynonymous SNV H2005Q 0.005 0 0 0 6 0 0 0 0 0 0 0 0.001 103825 chr11 64594178 64594178 A G CDC42BPG Nonsynonymous SNV M1493T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 103826 chrX 135431924 135431924 C T rs144593814 ADGRG4 Nonsynonymous SNV P2020L 0 0.008 0 0 0 3 0 0 0 1 0 0 0.002 103827 chr11 30253508 30253508 G T rs6170 FSHB Nonsynonymous SNV S20I 0.003 0.016 0.003 1 3 6 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 103828 chr11 64662840 64662840 A G ATG2A Synonymous SNV S1826S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.615 103829 chr11 428780 428780 C T rs201493230 ANO9 Nonsynonymous SNV R177Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.09 103830 chr11 6478024 6478024 T C rs757523393 TRIM3 Nonsynonymous SNV N192S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 20.2 103831 chr10 61802453 61802453 G A rs201169886 ANK3 Nonsynonymous SNV S1001L 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 33 103832 chr16 426184 426184 G A rs57780883 TMEM8A Synonymous SNV T392T 0.029 0.042 0.058 17 34 16 0.044 17 0 0 1 0 5.856 103833 chr11 4471500 4471500 A G rs117540999 OR52K2 Nonsynonymous SNV R311G 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 10.23 103834 chr16 4455523 4455523 C T rs34245892 CORO7, CORO7-PAM16 Nonsynonymous SNV R93Q 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 18.79 103835 chr11 45947662 45947662 G A rs746162106 LARGE2 Nonsynonymous SNV R281Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.17 103836 chr11 35492351 35492351 G A rs16927500 PAMR1 Synonymous SNV S170S 0.009 0.023 0.024 8 10 9 0.021 7 0 0 0 0 11.77 103837 chr11 36595043 36595043 A G rs34357808 RAG1 Synonymous SNV P63P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 0.026 103838 chr16 48218416 48218416 C T rs148539097 ABCC11 Nonsynonymous SNV V1065M 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Likely benign 24 103839 chr16 50344377 50344377 G C ADCY7 Nonsynonymous SNV V725L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.102 103840 chrX 153130107 153130107 G A rs782495914 L1CAM Synonymous SNV V1028V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.59 103841 chr11 4132858 4132858 A T rs137969593 RRM1 Nonsynonymous SNV I62F 0.004 0 0 0 5 0 0 0 0 0 0 0 28.1 103842 chr11 66002782 66002782 C T rs372958348 PACS1 Synonymous SNV D705D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 18.89 103843 chr11 428624 428624 C T rs143634897 ANO9 Nonsynonymous SNV G202S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.4 103844 chr11 26587014 26587014 A C MUC15 Nonsynonymous SNV L131R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.519 103845 chr11 2683164 2683164 C T rs28730757 KCNQ1OT1 0.008 0.01 0 0 9 4 0 0 0 0 0 0 8.991 103846 chr11 66373201 66373201 G T CCS Nonsynonymous SNV A234S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 103847 chr10 32977996 32977996 C G CCDC7 Nonsynonymous SNV P750R 0.004 0.01 0 5 5 4 0.013 0 0 0 0 0 22.9 103848 chr11 18787400 18787414 GTCATCAGCAGCGTG - rs754144442 PTPN5 H13_D17del 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 103849 chr10 73437218 73437218 C T rs201584731 CDH23 Nonsynonymous SNV S507L 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Uncertain significance 23.5 103850 chr10 33199296 33199296 T G rs150610387 ITGB1 Synonymous SNV V673V 0.004 0.01 0 5 5 4 0.013 0 0 0 0 0 9.35 103851 chr11 20065485 20065485 T C rs954170006 NAV2-AS2 0.003 0 0 4 3 0 0.01 0 0 0 0 0 1.498 103852 chr10 74896547 74896547 T A rs149666428 ECD Nonsynonymous SNV D497V 0.011 0.008 0.003 1 13 3 0.003 1 2 0 0 0 23.4 103853 chr10 74995009 74995009 A G rs760404543 FAM149B1 Nonsynonymous SNV Q512R 0.009 0.003 0 0 10 1 0 0 2 0 0 0 21.1 103854 chr10 75101205 75101205 A G rs116921979 CFAP70 Synonymous SNV I56I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.211 103855 chr10 75277210 75277210 A G rs145377545 USP54 Synonymous SNV L935L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 4.276 103856 chr11 67413207 67413207 A T ACY3 Nonsynonymous SNV S130T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 103857 chr11 67808759 67808759 C T rs373244328 TCIRG1 Synonymous SNV S7S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.4 103858 chr11 68192630 68192630 C T rs17149104 LRP5 Synonymous SNV D518D 0.022 0.01 0.01 6 26 4 0.015 3 0 0 0 0 Benign 16.65 103859 chrX 40523654 40523654 G T rs199665594 MED14 Nonsynonymous SNV P1118H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 103860 chr11 68213989 68213989 C T rs1127291 LRP5 Nonsynonymous SNV A944V 0.021 0.01 0.003 6 25 4 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.9 103861 chr11 68382119 68382119 C A rs111503828 PPP6R3 Nonsynonymous SNV L784I 0.021 0.01 0.003 6 25 4 0.015 1 0 0 0 0 5.903 103862 chr11 47599205 47599205 T G KBTBD4 Nonsynonymous SNV Q165P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 103863 chr11 47599322 47599322 T C rs75352463 KBTBD4 Nonsynonymous SNV N126S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.94 103864 chrX 47065473 47065473 C G rs150574055 UBA1 Nonsynonymous SNV L568V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.6 103865 chr11 34460573 34460573 C T CAT Nonsynonymous SNV R5W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 103866 chrX 48544013 48544013 C T rs143299151 WAS Synonymous SNV F117F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.74 103867 chrX 48547748 48547748 C T rs143885622 WAS Nonsynonymous SNV P460S 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 15.42 103868 chrX 48826136 48826136 C T rs782707450 KCND1 Synonymous SNV T181T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.34 103869 chrX 48922010 48922010 G A rs781929013 CCDC120 Nonsynonymous SNV R180H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 103870 chr16 67320194 67320194 G A PLEKHG4 Nonsynonymous SNV M739I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 103871 chr16 68371380 68371380 G A rs757578719 PRMT7 Nonsynonymous SNV R87H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 103872 chrX 6069116 6069116 T C rs145307351 NLGN4X Nonsynonymous SNV N131S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.819 103873 chr11 27403782 27403782 C T LGR4 Synonymous SNV L213L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.42 103874 chr16 69778915 69778915 G A rs140714914 NOB1 Nonsynonymous SNV T277M 0 0 0.007 0 0 0 0 2 0 0 0 0 29.1 103875 chr16 70515750 70515750 T C rs960917890 COG4 Nonsynonymous SNV I650V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.87 103876 chr11 32456784 32456784 C G rs555140661 WT1 Synonymous SNV P41P 0.007 0.01 0.007 6 8 4 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.67 103877 chr16 71895762 71895762 G A rs150251718 ZNF821 Synonymous SNV R125R 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 10.5 103878 chr11 46388527 46388527 C G rs774226767 DGKZ Nonsynonymous SNV L241V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 103879 chrX 76845330 76845330 T C ATRX Nonsynonymous SNV D2026G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 103880 chr16 72831651 72831651 T A rs1033337522 ZFHX3 Nonsynonymous SNV S730C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.671 103881 chr16 72991702 72991702 C T rs369675306 ZFHX3 Synonymous SNV A781A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.333 103882 chr10 55996666 55996666 G A rs370933593 PCDH15 Nonsynonymous SNV T264M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 103883 chr11 5322624 5322624 C T rs62000994 OR51B4 Nonsynonymous SNV A185T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 27.7 103884 chr11 5323161 5323161 T C rs61739194 OR51B4 Nonsynonymous SNV S6G 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 10.54 103885 chr16 767310 767310 C A METRN Synonymous SNV R269R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.8 103886 chr10 98743237 98743237 A G rs41284244 LCOR Nonsynonymous SNV D1007G 0.02 0.021 0.017 10 24 8 0.026 5 0 0 0 0 0.132 103887 chr11 5364471 5364471 C G rs61738484 OR51B5 Nonsynonymous SNV C95S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 25.6 103888 chr10 100177358 100177358 C T rs147125175 HPS1 Nonsynonymous SNV R569Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 103889 chr11 48267353 48267353 G T rs765250014 OR4X2 Nonsynonymous SNV G233V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 103890 chr11 5424041 5424041 C A rs114782317 OR51J1 Nonsynonymous SNV A72D 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.8 103891 chr11 5424379 5424379 C T rs116361956 OR51J1 Nonsynonymous SNV P185S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 12.01 103892 chr10 101295456 101295456 T G rs151053941 NKX2-3 Nonsynonymous SNV L358W 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 28.4 103893 chr10 101455780 101455780 T G ENTPD7 Nonsynonymous SNV V304G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 103894 chr11 5475409 5475409 C T rs141274915 OR51I2 Nonsynonymous SNV R231C 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 22.3 103895 chr11 791990 791990 G A rs7124179 SLC25A22 Synonymous SNV F299F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.446 103896 chr11 8009132 8009132 C T rs200229110 EIF3F Nonsynonymous SNV P78L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 103897 chr10 105176342 105176342 A T PDCD11 Nonsynonymous SNV D538V 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 17.98 103898 chr11 47470355 47470355 C T rs72905825 RAPSN Synonymous SNV S54S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.04 103899 chr11 47605907 47605907 G A rs370799966 NDUFS3 Synonymous SNV P223P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 13.67 103900 chr10 105792717 105792717 G A rs146841330 COL17A1 Nonsynonymous SNV A1435V 0.009 0.003 0.003 5 11 1 0.013 1 0 0 0 0 Benign/Likely benign 26.7 103901 chr10 73122053 73122053 A G SLC29A3 Synonymous SNV P294P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.081 103902 chr11 5530148 5530148 G A rs146605906 UBQLN3 Nonsynonymous SNV P214L 0.005 0 0 0 6 0 0 0 0 0 0 0 29.3 103903 chr16 87782322 87782322 G C rs3751727 KLHDC4 Nonsynonymous SNV L98V 0.014 0.021 0.01 5 17 8 0.013 3 0 0 0 0 27.8 103904 chr10 115343997 115343997 C G rs533573854 HABP2 Nonsynonymous SNV S417C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 27.3 103905 chr11 5537172 5537172 C A UBQLNL Nonsynonymous SNV S167I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.308 103906 chr11 5537331 5537331 C T rs564437441 UBQLNL Nonsynonymous SNV R114Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 103907 chr10 76994445 76994445 C T rs143196727 COMTD1 Nonsynonymous SNV D187N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 103908 chr11 5172910 5172910 A G OR52A1 Synonymous SNV R230R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.044 103909 chr11 556880 556880 C T rs577734556 LMNTD2 Nonsynonymous SNV E311K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.878 103910 chr16 88805288 88805288 C T rs188069388 LOC100289580 0 0 0.01 0 0 0 0 3 0 0 0 0 5.056 103911 chr16 89260195 89260195 G A rs62068507 CDH15 Synonymous SNV P675P 0.01 0.01 0.02 7 12 4 0.018 6 0 0 0 0 Benign 4.544 103912 chr11 56128575 56128575 A T rs140351903 OR8J1 Nonsynonymous SNV M285L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.5 103913 chr10 121591029 121591029 G A rs148689302 MCMBP Nonsynonymous SNV T627M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 16.43 103914 chr10 91511228 91511228 G C rs562653854 KIF20B Nonsynonymous SNV E1408Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.7 103915 chr10 124336156 124336156 A G rs201052086 DMBT1 Synonymous SNV E175E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.782 103916 chr17 10304470 10304470 C T rs201992379 MYH8 Nonsynonymous SNV M1049I 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 21.7 103917 chr11 1093575 1093575 G T rs201450769 MUC2 Synonymous SNV T1798T 0.009 0.01 0.017 4 10 4 0.01 5 0 0 0 0 2.469 103918 chr17 10533225 10533225 T G MYH3 Nonsynonymous SNV R1864S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 103919 chr17 10538189 10538189 C T rs201602783 MYH3 Nonsynonymous SNV A1442T 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 23.2 103920 chr10 96354545 96354545 A G rs116043383 HELLS Nonsynonymous SNV I630V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.352 103921 chr11 1093612 1093612 C A rs202172572 MUC2 Nonsynonymous SNV P1811T 0.02 0.026 0.027 8 24 10 0.021 8 0 0 0 0 0.009 103922 chr17 10541497 10541497 C T rs61735358 MYH3 Nonsynonymous SNV A1198T 0.013 0 0.02 7 15 0 0.018 6 0 0 0 0 Benign/Likely benign 19.4 103923 chr11 1093622 1093622 T C rs200369243 MUC2 Nonsynonymous SNV I1814T 0.016 0.021 0.017 6 19 8 0.015 5 0 0 0 0 0.113 103924 chr11 55406056 55406056 G A rs753642433 OR4P4 Nonsynonymous SNV V75M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.722 103925 chr11 55540964 55540964 G T rs117263837 OR5D13 Nonsynonymous SNV L17F 0.009 0.005 0.01 2 10 2 0.005 3 0 0 0 0 12.15 103926 chr17 12666634 12666634 C T rs28730829 MYOCD Synonymous SNV S830S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 7.855 103927 chr11 55606581 55606581 G A rs139231893 OR5D16 Synonymous SNV A118A 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 11.34 103928 chr17 12666739 12666739 G A rs28730830 MYOCD Synonymous SNV Q865Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.01 103929 chr17 12920413 12920413 C T rs750042259 ELAC2 Nonsynonymous SNV V91I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 103930 chr11 113078047 113078047 C T rs17115156 NCAM1 Synonymous SNV V231V 0.016 0.013 0.01 6 19 5 0.015 3 1 0 0 0 Benign 14.42 103931 chr12 10959051 10959051 T C rs201761703 TAS2R8 Nonsynonymous SNV I177V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 103932 chr17 1615625 1615625 G A rs751543766 MIR22HG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 103933 chr10 99968849 99968849 T G rs139345451 R3HCC1L Nonsynonymous SNV S326R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.346 103934 chr11 56043137 56043137 T C rs761154014 OR5T1 Nonsynonymous SNV M8T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 103935 chr17 16843729 16843729 G T rs72553883 TNFRSF13B Nonsynonymous SNV A181E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 103936 chr12 110230175 110230175 G A rs369752162 TRPV4 Synonymous SNV Y521Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.704 103937 chr10 134012411 134012411 G A rs377151543 DPYSL4 Synonymous SNV P249P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.649 103938 chr11 5664631 5664631 C T rs765720504 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV L387F 0.005 0 0 0 6 0 0 0 0 0 0 0 7.532 103939 chr12 112707605 112707605 T G rs552163355 HECTD4 Nonsynonymous SNV I742L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 103940 chr11 5969121 5969121 T C rs370134619 OR56A3 Nonsynonymous SNV I182T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.5 103941 chr11 56127803 56127803 C - rs753865345 OR8J1 F28Sfs*10 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 103942 chr11 56127804 56127804 T G rs149173319 OR8J1 Nonsynonymous SNV F28V 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 25.9 103943 chr11 57004295 57004295 G A rs142394789 APLNR Nonsynonymous SNV R62C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 103944 chr10 1405594 1405594 G A rs577247158 ADARB2 Nonsynonymous SNV L236F 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 0.001 103945 chr11 56345103 56345103 A G rs751336820 OR5M10 Nonsynonymous SNV L32P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 103946 chr12 118508870 118508870 C G rs150561165 VSIG10 Nonsynonymous SNV G445R 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 22.1 103947 chr11 60899476 60899476 C T rs143509679 VPS37C Nonsynonymous SNV G295D 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 24.4 103948 chr12 118838468 118838468 T G rs746728903 SUDS3 Synonymous SNV S174S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.76 103949 chr11 59377999 59377999 G A rs751954602 OSBP Synonymous SNV T142T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.41 103950 chr17 263613 263613 C A rs184547508 C17orf97 Nonsynonymous SNV P327T 0.007 0 0.014 1 8 0 0.003 4 0 0 1 0 0.001 103951 chr17 263615 263615 C T rs75457484 C17orf97 Synonymous SNV P327P 0.007 0 0.014 1 8 0 0.003 4 0 0 1 0 8.71 103952 chr17 263622 263622 A G rs76926791 C17orf97 Nonsynonymous SNV K330E 0.007 0 0.014 1 8 0 0.003 4 1 0 1 0 0.001 103953 chr17 26950801 26950801 - CTG KIAA0100 Q1502_D1503insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 103954 chr17 27085556 27085556 G A rs373643100 FAM222B Nonsynonymous SNV P474L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 103955 chr17 27910537 27910537 G A rs147244911 GIT1 Synonymous SNV H50H 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 10.91 103956 chr11 57094914 57094914 G A rs530277602 SSRP1 Synonymous SNV G619G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 103957 chr11 60702731 60702731 C T rs144812979 TMEM132A Nonsynonymous SNV S616F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 103958 chr12 123061479 123061479 C A rs183574130 KNTC1 Nonsynonymous SNV S875Y 0.002 0 0 0 2 0 0 0 0 0 0 0 32 103959 chr17 28537587 28537587 G A rs41274280 SLC6A4 Synonymous SNV F465F 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Likely benign 6.597 103960 chr17 28651936 28651936 G A rs370530656 TMIGD1 Synonymous SNV L180L 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 8.115 103961 chr11 59225150 59225150 G A rs142084250 OR4D6 Synonymous SNV T239T 0.012 0.01 0.01 2 14 4 0.005 3 0 0 0 0 1.435 103962 chr17 29315018 29315018 C T rs141533583 RNF135 Synonymous SNV D191D 0.004 0.003 0.014 3 5 1 0.008 4 0 0 0 0 Benign 1.913 103963 chr11 6261493 6261493 A G rs60883768 CNGA4 Nonsynonymous SNV T157A 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Benign 14.82 103964 chr11 59410479 59410479 A T rs77793148 PATL1 Synonymous SNV S641S 0.021 0.016 0.024 4 25 6 0.01 7 0 0 0 0 0.194 103965 chr17 29632392 29632392 C T EVI2B Nonsynonymous SNV G79E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 103966 chr11 6265533 6265533 T G rs61746457 CNGA4 Nonsynonymous SNV M541R 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 12.13 103967 chr11 124764987 124764987 C T rs186079701 ROBO4 Nonsynonymous SNV R235H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 103968 chr11 57958578 57958578 G A rs139145865 OR9Q2 Nonsynonymous SNV V206I 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 1 22.9 103969 chr12 124841228 124841228 C A rs200770364 NCOR2 Synonymous SNV P1057P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.24 103970 chr11 63137780 63137780 G A rs370688569 SLC22A9 Synonymous SNV R84R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.8 103971 chr11 108098576 108098576 C G rs1800054 ATM Nonsynonymous SNV S49C 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 Benign/Likely benign 25.1 103972 chr10 31810514 31810514 A G rs138507868 ZEB1 Nonsynonymous SNV T677A 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Likely benign 9.848 103973 chr12 12871180 12871180 A G rs546234840 CDKN1B Nonsynonymous SNV D136G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 103974 chr11 62010940 62010940 G T SCGB1D2 Stop gain E79X 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 32 103975 chr11 64003328 64003328 C T rs61761266 VEGFB Synonymous SNV P49P 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 Benign 15.01 103976 chr11 62382241 62382241 C T rs139971812 ROM1 Nonsynonymous SNV A329V 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 Uncertain significance 20.4 103977 chr11 6238680 6238680 G A rs140870715 FAM160A2 Synonymous SNV T712T 0.02 0.01 0.024 4 23 4 0.01 7 0 0 0 0 0.983 103978 chr11 62601154 62601154 A G LOC105369332 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 103979 chr11 64416276 64416276 G C rs139264192 NRXN2 Synonymous SNV L1031L 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 Benign 8.31 103980 chr11 59377903 59377903 C T rs61755078 OSBP Synonymous SNV T174T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.53 103981 chr11 59423175 59423175 C T rs187702697 PATL1 Synonymous SNV R284R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.9 103982 chr12 132529399 132529399 G T rs150954367 EP400 Nonsynonymous SNV V2229F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 103983 chr11 59481016 59481016 C T rs537595 OR10V1 Synonymous SNV Q101Q 0.009 0 0.01 3 10 0 0.008 3 0 0 0 0 6.329 103984 chr11 59540697 59540697 A G rs2229915 STX3 Nonsynonymous SNV Q15R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 11.64 103985 chr11 61646004 61646004 G A rs150972989 FADS3 Synonymous SNV L243L 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 6.531 103986 chr12 132688080 132688080 G A rs139441969 GALNT9 Synonymous SNV H45H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.11 103987 chr11 64878234 64878234 G C rs138579763 VPS51 Nonsynonymous SNV S690T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 24.7 103988 chr11 640071 640080 CGGCCCCGAC - rs762885973 DRD4 G275Vfs*68 0.009 0 0 2 10 0 0.005 0 0 0 0 0 103989 chr11 640082 640119 GTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGC - rs751359558 DRD4 C278Wfs*159 0.009 0 0 2 10 0 0.005 0 0 0 0 0 103990 chr11 60291399 60291399 A G MS4A13 Synonymous SNV R53R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 103991 chr11 62562475 62562475 G A rs147145490 NXF1 Synonymous SNV D503D 0.003 0 0 0 3 0 0 0 0 0 0 0 10.33 103992 chr11 64367853 64367853 C T rs145200251 SLC22A12 Nonsynonymous SNV R326C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.6 103993 chr11 64812871 64812871 C T NAALADL1 Nonsynonymous SNV A699T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 103994 chr11 18318354 18318354 C T rs143784823 HPS5 Nonsynonymous SNV G387R 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 Benign/Likely benign 1.369 103995 chr11 66055685 66055685 G A rs11544832 YIF1A Nonsynonymous SNV P37L 0.017 0.005 0.02 4 20 2 0.01 6 1 0 0 0 17.36 103996 chr10 55569229 55569229 G A rs12359240 PCDH15 Synonymous SNV I1525I 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign 8.892 103997 chr11 66083263 66083263 C T rs78560344 CD248 Synonymous SNV P412P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.726 103998 chr11 66102557 66102557 C T rs117873455 RIN1 Nonsynonymous SNV R210Q 0.01 0.005 0.014 4 12 2 0.01 4 0 0 0 0 33 103999 chr11 62292213 62292213 G A rs142670688 AHNAK Nonsynonymous SNV L3226F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.27 104000 chr11 60703542 60703542 C T rs111231672 TMEM132A Synonymous SNV P746P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.86 104001 chr11 62300164 62300164 G A AHNAK Synonymous SNV D575D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.323 104002 chr11 65667786 65667786 C T FOSL1 Nonsynonymous SNV G9S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 104003 chr11 62546350 62546350 C - TAF6L A149Vfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 104004 chr11 62594689 62594689 G A rs144967757 STX5 Nonsynonymous SNV R121C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 33 104005 chr11 65826442 65826442 G A SF3B2 Nonsynonymous SNV E370K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 104006 chr10 64967824 64967824 G A JMJD1C Nonsynonymous SNV A983V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 104007 chr11 66029362 66029362 C T rs560416574 KLC2 Synonymous SNV A126A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 104008 chr10 69714726 69714726 T G rs61755666 HERC4 Synonymous SNV P474P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.304 104009 chr11 63276060 63276060 G T rs144707121 LGALS12 Synonymous SNV L35L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.814 104010 chr17 40253817 40253817 G A DHX58 Nonsynonymous SNV H667Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.73 104011 chr11 637356 637356 C T DRD4 Nonsynonymous SNV P18S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 8.877 104012 chr11 2417172 2417172 G A CD81 Nonsynonymous SNV G107D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.86 104013 chr11 66259188 66259188 A G DPP3 Nonsynonymous SNV S287G 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 104014 chr11 67135090 67135090 C T rs141954460 CLCF1 Synonymous SNV S8S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 18.73 104015 chr10 72298745 72298745 C T rs117244352 PALD1 Nonsynonymous SNV T517M 0.017 0.013 0.007 0 20 5 0 2 0 0 0 0 0.355 104016 chr11 68478462 68478462 T C rs142546011 TESMIN Nonsynonymous SNV E405G 0.004 0.018 0 7 5 7 0.018 0 0 0 0 0 29.1 104017 chr11 66742959 66742959 A G rs544040385 C11orf86 Synonymous SNV Q42Q 0.008 0.003 0.003 5 9 1 0.013 1 1 0 0 0 0.071 104018 chr11 64786030 64786030 G T MIR6879 0.001 0 0 0 1 0 0 0 0 0 0 0 0.15 104019 chr11 72425363 72425363 C A rs147666555 ARAP1 Synonymous SNV L171L 0.006 0.003 0 1 7 1 0.003 0 1 0 0 0 10.83 104020 chr11 700227 700227 C T rs117149970 TMEM80 Nonsynonymous SNV T115M 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 10.59 104021 chr11 70221189 70221189 A C PPFIA1 Nonsynonymous SNV Q1102P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 104022 chr11 70034007 70034007 G A rs746634159 ANO1 Nonsynonymous SNV R953Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 104023 chr11 68773390 68773390 C T rs199966234 MRGPRF Nonsynonymous SNV G130S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.46 104024 chr12 49725062 49725062 A T rs777129614 TROAP Nonsynonymous SNV I722F 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 30 104025 chr17 46972664 46972664 C T rs780037939 ATP5MC1 Synonymous SNV T88T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.94 104026 chr17 4701642 4701642 G C PSMB6 Nonsynonymous SNV E215D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 104027 chr11 72004653 72004653 G A rs150343959 CLPB Nonsynonymous SNV R569C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 34 104028 chr11 4153546 4153546 C A rs757215490 RRM1 Synonymous SNV A262A 0.003 0 0 0 3 0 0 0 0 0 0 0 18.89 104029 chr17 48431829 48431829 C T rs769642228 XYLT2 Nonsynonymous SNV P230L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 104030 chr11 77333678 77333678 T - rs778222480 CLNS1A E102Kfs*6 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 104031 chr11 134214956 134214956 G A rs373525902 GLB1L2 Nonsynonymous SNV G128R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 104032 chr11 1501634 1501634 G A rs115401529 MOB2 Synonymous SNV A118A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.87 104033 chr11 74562138 74562138 A G rs200117660 XRRA1 Nonsynonymous SNV W364R 0.008 0.008 0.003 9 9 3 0.023 1 0 0 0 0 0.034 104034 chr11 15197574 15197574 G A INSC Nonsynonymous SNV R115H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 104035 chr11 74717217 74717217 A C rs143740329 NEU3 Nonsynonymous SNV T356P 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 0.624 104036 chr11 73796878 73796878 T C rs140307393 C2CD3 Nonsynonymous SNV N1232S 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign/Likely benign 25.5 104037 chr11 16362621 16362621 T C SOX6 Synonymous SNV T58T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.068 104038 chr10 91404931 91404931 C A rs762957863 PANK1 Synonymous SNV G43G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.242 104039 chr11 72533524 72533524 G T ATG16L2 Nonsynonymous SNV A110S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 104040 chr17 50008372 50008372 C T rs148839711 CA10 Nonsynonymous SNV R86H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.9 104041 chr11 68177483 68177483 C T rs147388442 LRP5 Synonymous SNV N150N 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 Benign/Likely benign 15.14 104042 chr17 53844742 53844742 G A rs112454522 PCTP Nonsynonymous SNV C63Y 0.005 0.01 0.007 6 6 4 0.015 2 0 0 0 0 25.1 104043 chr11 66103616 66103616 G A RIN1 Nonsynonymous SNV P6S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.2 104044 chr11 47587298 47587298 G A PTPMT1 Nonsynonymous SNV D42N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.5 104045 chr10 96306140 96306140 A C rs779737193 HELLS Nonsynonymous SNV E13A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.047 104046 chr17 56056586 56056586 - TGT rs199628152 VEZF1 Q354_H355insQ 0.008 0.008 0.003 7 9 3 0.018 1 0 0 0 0 104047 chr17 56400875 56400875 G A rs772997291 TSPOAP1 Nonsynonymous SNV P265L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.604 104048 chr11 6976984 6976984 G A rs117380100 ZNF215 Nonsynonymous SNV S21N 0.005 0.016 0.007 1 6 6 0.003 2 0 0 0 0 Likely benign 0.023 104049 chr10 98156975 98156975 - TGT rs774452665 TLL2 N450_I451insN 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 104050 chr12 53468517 53468517 G A rs779780183 SPRYD3 Synonymous SNV S141S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.54 104051 chr11 8724192 8724192 C T rs773513736 DENND2B Nonsynonymous SNV V463M 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 32 104052 chr11 78381535 78381535 C T rs140341040 TENM4 Nonsynonymous SNV R1952H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 104053 chr10 99132509 99132509 T C rs138575147 RRP12 Nonsynonymous SNV S645G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 23.3 104054 chr11 76979511 76979511 A G rs143383034 GDPD4 Nonsynonymous SNV I233T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16 104055 chr11 792634 792634 G A rs533726078 SLC25A22 Nonsynonymous SNV T169M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 104056 chr12 54639946 54639946 G A CBX5 Synonymous SNV I126I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.08 104057 chr11 78780885 78780885 C T TENM4 Synonymous SNV P35P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.39 104058 chr11 75152349 75152349 G A rs188755757 GDPD5 Synonymous SNV Y306Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.826 104059 chr11 9595585 9595585 G C WEE1 Nonsynonymous SNV E35D 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 6.363 104060 chr11 8933998 8934001 AGAG - rs537025239 AKIP1 E76Rfs*7 0.003 0 0 0 3 0 0 0 0 0 0 0 104061 chr11 87025574 87025574 G A rs138935491 TMEM135 Synonymous SNV A332A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.42 104062 chr11 85468708 85468708 G A rs149582759 SYTL2 Nonsynonymous SNV R21W 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 32 104063 chr11 86666010 86666010 C G rs139401671 FZD4 Nonsynonymous SNV E40Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 17.89 104064 chr11 290466 290466 C T rs182102503 PGGHG Synonymous SNV H112H 0.01 0.018 0 2 12 7 0.005 0 0 0 0 0 11.81 104065 chr11 9200465 9200465 T C rs78439449 DENND5A Synonymous SNV Q513Q 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 Likely benign 1.136 104066 chr11 293385 293385 C T rs17656208 PGGHG Synonymous SNV L455L 0.011 0.003 0.007 5 13 1 0.013 2 0 0 0 0 12.44 104067 chr12 101336240 101336240 C A rs199936621 ANO4 Nonsynonymous SNV S128Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 29.3 104068 chr12 101433741 101433741 T C rs944147928 ANO4 Synonymous SNV Y302Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.043 104069 chr11 77301385 77301385 G A rs145642525 AQP11 Synonymous SNV T116T 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 10.84 104070 chr11 93463051 93463051 G A rs1017332956 CEP295 Nonsynonymous SNV R2528H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 104071 chr12 101779394 101779394 T C rs149982185 UTP20 Nonsynonymous SNV I2697T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.1 104072 chr17 71746376 71746376 C T rs16977768 LINC00469 0 0 0.048 0 0 0 0 14 0 0 0 0 1.3 104073 chr11 9864301 9864301 T C rs147438385 SBF2 Nonsynonymous SNV I1043V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 104074 chr11 95825381 95825383 TGC - MAML2 Q621del 0.006 0.01 0 7 7 4 0.018 0 0 0 0 0 104075 chr11 9830675 9830677 ATA - rs554171396 SBF2-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 104076 chr11 1018564 1018564 C T rs199782413 MUC6 Nonsynonymous SNV G1413R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.26 104077 chr17 72860953 72860953 G T FDXR Nonsynonymous SNV T197N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 104078 chr17 72869062 72869062 G A FDXR Nonsynonymous SNV S3L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 104079 chr12 107208919 107208919 C T rs144718130 RIC8B Nonsynonymous SNV T177M 0.002 0.008 0.007 4 2 3 0.01 2 0 0 0 0 29.8 104080 chr11 89224081 89224081 A G NOX4 Synonymous SNV F20F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.526 104081 chr12 6571294 6571294 G A rs71584826 TAPBPL Synonymous SNV A462A 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 8.284 104082 chr12 102161932 102161932 A G GNPTAB Synonymous SNV L431L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 2.438 104083 chr11 7950150 7950150 A G rs373819279 OR10A6 Synonymous SNV Y20Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 104084 chr12 104379506 104379506 - TT rs765686214 TDG Frameshift insertion E222Lfs*6 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 104085 chr12 104379507 104379507 - AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC rs755752157 TDG 0.003 0 0 0 3 0 0 0 0 0 0 0 104086 chr12 102108315 102108315 G A rs910416069 CHPT1 Nonsynonymous SNV R152H 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 34 104087 chr11 93148201 93148201 T C rs61746205 DEUP1 Nonsynonymous SNV M520T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 104088 chr11 45948962 45948962 C T rs138897549 LARGE2 Synonymous SNV F474F 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.791 104089 chr12 105534106 105534106 T A WASHC4 Nonsynonymous SNV V497D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 104090 chr11 46431847 46431847 C G rs780727462 AMBRA1 Nonsynonymous SNV S1003T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 21.9 104091 chr11 93526946 93526946 C T rs116727804 MED17 Synonymous SNV L230L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.7 104092 chr17 74004954 74004954 C G EVPL Nonsynonymous SNV L1466F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 104093 chr11 93554017 93554017 C G rs114935787 VSTM5 Nonsynonymous SNV V151L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 104094 chr12 105282867 105282867 G C rs201983610 SLC41A2 Nonsynonymous SNV S275C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.2 104095 chr11 93913392 93913392 G T rs74549886 PANX1 Nonsynonymous SNV E390D 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 6.261 104096 chr12 108051360 108051360 C T rs138617821 BTBD11 Synonymous SNV N597N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.65 104097 chr12 108618547 108618547 C T rs570349180 WSCD2 Synonymous SNV R238R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13 104098 chr12 70330319 70330319 T C rs760217887 MYRFL Nonsynonymous SNV Y711H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.41 104099 chr11 94129601 94129601 T C rs61734490 GPR83 Synonymous SNV A159A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.313 104100 chr11 94203685 94203685 T C rs13447633 MRE11 Synonymous SNV P323P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.217 104101 chr12 10772883 10772883 G A rs750078425 STYK1 Nonsynonymous SNV R377C 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 104102 chr11 47354171 47354171 C T rs371488508 MYBPC3 Synonymous SNV S1191S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.08 104103 chr11 94602457 94602457 G A rs181764487 AMOTL1 Synonymous SNV T811T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 14.09 104104 chr11 47460383 47460383 C T rs570140663 RAPSN Nonsynonymous SNV V297M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 23.9 104105 chr12 113818644 113818644 G T rs746029999 PLBD2 Synonymous SNV G318G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.13 104106 chr12 109719463 109719463 G A rs758048973 FOXN4 Nonsynonymous SNV P348L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 104107 chr11 92087036 92087036 T G rs201479806 FAT3 Synonymous SNV V586V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 3.089 104108 chr12 101761753 101761753 A G rs117476305 UTP20 Nonsynonymous SNV K2128R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 22.7 104109 chr12 112036779 112036779 C T rs3906245 ATXN2 Synonymous SNV Q20Q 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Likely benign 1.745 104110 chr12 120168426 120168426 G A rs138923592 CIT Synonymous SNV A1078A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.78 104111 chr17 76506502 76506502 G A rs367883034 DNAH17 Synonymous SNV I1400I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 104112 chr12 80623082 80623082 C T rs374355344 OTOGL Nonsynonymous SNV R170W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 104113 chr12 112630482 112630482 G A rs749480098 HECTD4 Synonymous SNV I3068I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.22 104114 chr12 112721020 112721020 A G rs377277702 HECTD4 Synonymous SNV N474N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.364 104115 chr12 112036779 112036779 C - rs757862555 ATXN2 Q20Hfs*26 0.003 0.003 0 0 3 1 0 0 0 0 0 0 104116 chr12 112036781 112036809 GTTGCTGCTGCTGCTGCTGCTGCTGCTGC - rs756277324 ATXN2 Q11Afs*69 0.001 0 0 0 1 0 0 0 0 0 0 0 104117 chr12 112159495 112159495 A G rs746554363 ACAD10 Nonsynonymous SNV N338S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 104118 chr17 76803320 76803320 G A rs377551507 USP36 Synonymous SNV S602S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.988 104119 chr12 112888274 112888274 A T PTPN11 Nonsynonymous SNV E97V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 104120 chr12 104138971 104138971 G A rs147098799 STAB2 Nonsynonymous SNV G2018R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 28.4 104121 chr12 113600980 113600980 A T DDX54 Nonsynonymous SNV F680I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 104122 chr12 113616993 113616993 C T rs556389056 DDX54 Synonymous SNV S173S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.88 104123 chr12 113624653 113624653 G T rs762454854 RITA1 Synonymous SNV V58V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.652 104124 chr12 90014017 90014017 G T ATP2B1 Nonsynonymous SNV P343T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 104125 chr12 1225180 1225180 C G ERC1 Nonsynonymous SNV A517G 0.003 0.003 0 0 3 1 0 0 1 0 0 0 29.7 104126 chr17 78169101 78169101 G A rs372805579 CARD14 Nonsynonymous SNV E253K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 104127 chr11 56380276 56380276 G T OR5M1 Nonsynonymous SNV H235N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.49 104128 chr17 78293145 78293145 G A rs148356224 RNF213 Synonymous SNV S1019S 0.01 0.003 0.007 2 12 1 0.005 2 0 0 0 0 5.878 104129 chr12 117655856 117655856 G A rs191788603 NOS1 Synonymous SNV T1092T 0.002 0 0 0 2 0 0 0 0 0 0 0 11 104130 chr12 120572131 120572131 G A rs374646623 GCN1 Synonymous SNV I2427I 0.003 0 0 0 3 0 0 0 0 0 0 0 19.9 104131 chr12 120611500 120611500 C T rs199801180 GCN1 Synonymous SNV A441A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.5 104132 chr12 103352171 103352171 - GCAGCAGCAGCAGCA rs727502892 ASCL1 Q62_A63insQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 104133 chr12 94761875 94761875 T C rs185058802 CEP83 Nonsynonymous SNV K309R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 17.39 104134 chr12 121435353 121435353 C T rs143015301 HNF1A Synonymous SNV V462V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 14.9 104135 chr12 104105262 104105262 C A rs147569287 STAB2 Nonsynonymous SNV D1434E 0.004 0.005 0 0 5 2 0 0 0 0 0 0 16.2 104136 chr12 94965450 94965450 C T rs201156920 TMCC3 Nonsynonymous SNV A368T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 104137 chr12 121442833 121442833 C T rs34543757 C12orf43 Nonsynonymous SNV R109H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.895 104138 chr11 5655988 5655988 T C rs61758098 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV F216S 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 16.33 104139 chr12 11138685 11138685 G A TAS2R50 Nonsynonymous SNV P259S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 104140 chr17 80398897 80398897 C T rs564210216 HEXD Nonsynonymous SNV A244V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 104141 chr12 99093344 99093344 C A rs144749677 APAF1 Synonymous SNV I810I 0.003 0 0 0 3 0 0 0 0 0 0 0 18.66 104142 chr12 123425383 123425383 G A rs367915463 ABCB9 Nonsynonymous SNV R471C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 104143 chr12 133147086 133147086 G A rs532587086 FBRSL1 Synonymous SNV A391A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 14.96 104144 chr17 8263334 8263334 C T rs1561 LOC100128288 0 0 0.092 0 0 0 0 27 0 0 2 0 9.222 104145 chr17 8661684 8661684 G A rs34694079 SPDYE4 Nonsynonymous SNV A6V 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 10.4 104146 chr12 12483681 12483681 A C rs373927498 MANSC1 Nonsynonymous SNV S192R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.399 104147 chr12 133252362 133252362 T C POLE Synonymous SNV K355K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.13 104148 chr12 14577193 14577193 A G rs200012406 ATF7IP Nonsynonymous SNV H115R 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 0.003 104149 chr11 55339962 55339962 G A rs141382229 OR4C16 Nonsynonymous SNV R120H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 24.5 104150 chr18 19762986 19762986 A G rs146949786 GATA6 Synonymous SNV T534T 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 0.407 104151 chr11 5922632 5922632 A G rs16926732 OR52E5 Nonsynonymous SNV D213G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.02 104152 chr11 59382959 59382959 G A rs933173423 OSBP Nonsynonymous SNV P60L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.758 104153 chr12 13128307 13128307 T A rs150183348 HEBP1 Nonsynonymous SNV T169S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.308 104154 chr12 121448918 121448918 T A rs112728225 C12orf43 Nonsynonymous SNV Q59H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.29 104155 chr12 132562023 132562023 G A rs745658536 EP400 Synonymous SNV A3059A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 104156 chr12 132628364 132628399 GGCGCCTCCTCGCTGCTCCCTGCGCTGGGCTCCCCT - rs764110541 DDX51 P123_E134del 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 104157 chr12 122248610 122248610 G A rs368348128 SETD1B Nonsynonymous SNV D587N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.878 104158 chr12 133102393 133102393 G A rs750809377 FBRSL1 Nonsynonymous SNV R188Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 104159 chr18 29171910 29171910 A G TTR Synonymous SNV V15V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.547 104160 chr18 29797866 29797866 T A rs535983723 MEP1B Nonsynonymous SNV C677S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.5 104161 chr12 123001922 123001922 G A rs370217351 RSRC2 Nonsynonymous SNV R152W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.8 104162 chr11 129801087 129801087 C A PRDM10 Nonsynonymous SNV D366Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 104163 chr12 133733395 133733395 A G rs757663056 ZNF10 Synonymous SNV Q521Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.147 104164 chr12 123341692 123341692 C T rs150109184 HIP1R Nonsynonymous SNV A582V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 104165 chr12 123463411 123463411 G A rs200470247 OGFOD2 Nonsynonymous SNV D51N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 104166 chr12 123687613 123687613 T C rs147793766 MPHOSPH9 Nonsynonymous SNV T447A 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 0.005 104167 chr11 55861148 55861148 G A rs148027692 OR8I2 Nonsynonymous SNV R122H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 25.1 104168 chr12 14631339 14631339 G A rs61754408 ATF7IP Synonymous SNV P1009P 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 12.92 104169 chr11 61097476 61097476 C T DDB1 Nonsynonymous SNV S94N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.74 104170 chr11 61276789 61276789 G A LRRC10B Nonsynonymous SNV A107T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.2 104171 chr11 1651394 1651423 CTGTGGCTCCTGTGGGGGGTCCAAGGGGGG - KRTAP5-5 C142_S151del 0.003 0 0 2 4 0 0.005 0 2 0 0 1 104172 chr12 16507212 16507212 A C MGST1 Nonsynonymous SNV D9A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.63 104173 chr12 1748933 1748933 C T WNT5B Nonsynonymous SNV L138F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 104174 chr13 25882077 25882077 A T rs11556095 NUP58 Nonsynonymous SNV T81S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.81 104175 chr12 16430344 16430344 A G rs140649176 SLC15A5 Synonymous SNV L92L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.228 104176 chr12 18435414 18435414 T A PIK3C2G Nonsynonymous SNV H133Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.772 104177 chr13 28589368 28589368 C T rs56300022 FLT3 Synonymous SNV P893P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.67 104178 chr18 47390709 47390709 G A rs200991250 MYO5B Synonymous SNV D1215D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 10.93 104179 chr11 17631453 17631453 C T rs117380920 OTOG Nonsynonymous SNV L1548F 0.017 0.016 0.017 7 20 6 0.018 5 0 0 0 0 Benign/Likely benign 6.977 104180 chr12 41414212 41414212 T C rs61754102 CNTN1 Synonymous SNV H820H 0.042 0.018 0.017 16 49 7 0.041 5 1 0 0 0 Benign/Likely benign 3.617 104181 chr11 63057727 63057727 A G SLC22A10 Synonymous SNV L30L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.62 104182 chr12 23728699 23728699 G A rs373260333 SOX5 Nonsynonymous SNV T27I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 104183 chr12 27533276 27533276 G A rs369489279 ARNTL2 Synonymous SNV A104A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.35 104184 chr18 56202338 56202338 C T rs145798849 ALPK2 Nonsynonymous SNV R1694Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.204 104185 chr12 27863833 27863833 G A rs147416601 MRPS35 Synonymous SNV L19L 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 3.559 104186 chr13 42481746 42481746 T G VWA8 Synonymous SNV A153A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.124 104187 chr12 18573953 18573953 C G rs370783463 PIK3C2G Synonymous SNV L757L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 12.02 104188 chr12 47628929 47628929 C G rs143928273 PCED1B Nonsynonymous SNV A28G 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 22.6 104189 chr11 64366364 64366364 C T rs374858585 SLC22A12 Nonsynonymous SNV R239C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 104190 chr12 32134720 32134720 T A rs79406084 RESF1 Synonymous SNV P277P 0.009 0.01 0.014 8 10 4 0.021 4 0 1 0 0 0.348 104191 chr18 60383954 60383954 C G rs769959686 PHLPP1 Nonsynonymous SNV D346E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 104192 chr12 22612449 22612449 - A C2CD5 Frameshift insertion S854Ffs*13 0.003 0.003 0 0 4 1 0 0 0 0 0 0 104193 chr12 40707861 40707861 C T rs33958906 LRRK2 Nonsynonymous SNV P1542S 0.017 0.052 0.017 3 20 20 0.008 5 0 0 0 0 Benign/Likely benign 28.7 104194 chr11 64950988 64950988 C T rs374553729 CAPN1 Synonymous SNV N127N 0.003 0 0 0 3 0 0 0 1 0 0 0 10.59 104195 chr12 42854081 42854081 G A rs779314205 PRICKLE1 Nonsynonymous SNV R676W 0.004 0.016 0 0 5 6 0 0 0 0 0 0 Uncertain significance 26.2 104196 chr13 51855043 51855043 A G rs73492203 FAM124A Nonsynonymous SNV Y431C 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 25.6 104197 chr11 2683200 2683200 G A KCNQ1 Nonsynonymous SNV S468N 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 22.5 104198 chr11 65480912 65480912 G C rs777887005 KAT5 Nonsynonymous SNV G160R 0.004 0.003 0 0 5 1 0 0 1 0 0 0 18.33 104199 chr18 72114486 72114486 C G rs558674692 DIPK1C Synonymous SNV G77G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.189 104200 chr12 50571414 50571414 G A rs374529313 LIMA1 Synonymous SNV V269V 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 10.92 104201 chr12 44142400 44142400 C A rs145814117 PUS7L Nonsynonymous SNV R308L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.7 104202 chr18 72999143 72999143 C T rs116096444 TSHZ1 Nonsynonymous SNV A594V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 104203 chr18 73000314 73000314 A G rs34602326 TSHZ1 Synonymous SNV T984T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.006 104204 chr12 48392206 48392206 C T COL2A1 Nonsynonymous SNV G32R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 20.3 104205 chr11 3239596 3239596 T C MRGPRG Nonsynonymous SNV S150G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 104206 chr12 46602880 46602880 A G SLC38A1 Synonymous SNV S115S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.256 104207 chr11 32635158 32635158 C G rs773641187 CCDC73 Nonsynonymous SNV M902I 0.002 0.005 0 0 2 2 0 0 0 1 0 0 11.8 104208 chr12 21172189 21172189 G T rs761980507 SLCO1B7 Nonsynonymous SNV L31F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 104209 chr11 57075873 57075873 C G rs144560116 TNKS1BP1 Nonsynonymous SNV A1438P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.4 104210 chr11 65687877 65687877 C T rs755509971 DRAP1 Synonymous SNV P91P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.4 104211 chr18 77439637 77439637 G T rs75667721 LOC284241 0 0 0.085 0 0 0 0 25 0 0 2 0 6.022 104212 chr12 48141527 48141527 G A rs371742959 RAPGEF3 Nonsynonymous SNV H439Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.539 104213 chr12 40499365 40499365 G A rs904622952 SLC2A13 Synonymous SNV Y82Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 104214 chr12 40717066 40717066 A G LRRK2 Nonsynonymous SNV N1872D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 104215 chr12 52215405 52215405 G C FIGNL2 Nonsynonymous SNV L265V 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 9.566 104216 chr14 100758811 100758811 C T SLC25A29 Nonsynonymous SNV A175T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.85 104217 chr11 3688759 3688759 C T rs759749490 CHRNA10 Nonsynonymous SNV V200M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 29.6 104218 chr12 48060835 48060835 T G RPAP3 Nonsynonymous SNV I580L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 104219 chr19 10247810 10247810 G A rs761052410 DNMT1 Synonymous SNV N1464N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.531 104220 chr12 2937208 2937208 T C rs148827220 NRIP2 Nonsynonymous SNV E195G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.153 104221 chr12 49428717 49428717 G A rs148688181 KMT2D Synonymous SNV D3411D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.605 104222 chr11 67810239 67810239 G A rs765686263 TCIRG1 Nonsynonymous SNV R109Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26 104223 chr12 52285052 52285052 G A rs149492537 ANKRD33 Nonsynonymous SNV R441K 0.007 0 0 0 8 0 0 0 0 0 0 0 16.19 104224 chr11 4703158 4703158 G A rs764785951 OR51E2 Nonsynonymous SNV R262C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 104225 chr19 12383488 12383488 C T rs758377429 ZNF44 Nonsynonymous SNV A496T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 104226 chr12 53343084 53343084 G T KRT18 Nonsynonymous SNV G43C 0.028 0.031 0 8 33 12 0.021 0 0 0 0 0 27.2 104227 chr12 48379557 48379557 T C rs145042175 COL2A1 Nonsynonymous SNV N476S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.154 104228 chr19 14281791 14281791 G A rs34031560 LOC100507373 0 0 0.017 0 0 0 0 5 0 0 1 0 0.044 104229 chr11 61732941 61732941 T C rs186448909 FTH1 Nonsynonymous SNV K54R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.62 104230 chr11 618598 618598 C A rs766123698 CDHR5 0.011 0.013 0 2 13 5 0.005 0 0 0 0 0 22.4 104231 chr14 21502320 21502320 T C rs757467889 RNASE13 Nonsynonymous SNV N43S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 104232 chr11 7686713 7686713 C T rs149629484 CYB5R2 Synonymous SNV A241A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.08 104233 chr12 56345853 56345853 G A DGKA Nonsynonymous SNV R187Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 104234 chr11 7846601 7846601 T C rs373525760 OR5P3 Nonsynonymous SNV I307V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.175 104235 chr12 55863388 55863388 T G rs753943115 OR6C70 Nonsynonymous SNV I179L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.214 104236 chr11 48387663 48387663 T C rs151060469 OR4C5 Nonsynonymous SNV M119V 0.01 0 0.003 1 12 0 0.003 1 0 0 0 0 8.968 104237 chr19 16137200 16137200 A G rs2365155 LINC00661 0 0 0.02 0 0 0 0 6 0 0 3 0 3.4 104238 chr19 1625651 1625651 C T rs755661624 TCF3 Synonymous SNV S141S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 104239 chr12 51173948 51173948 G A rs371703036 ATF1 Nonsynonymous SNV S7N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 104240 chr12 56660938 56660938 G A rs757863379 COQ10A Synonymous SNV G12G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.994 104241 chr11 85365174 85365174 A G rs140047528 TMEM126A Nonsynonymous SNV S52G 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 27.4 104242 chr12 6105242 6105242 C T VWF Nonsynonymous SNV A1997T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 104243 chr12 67696225 67696225 G A rs201484225 CAND1 Nonsynonymous SNV V375I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 21.7 104244 chr11 6423815 6423815 G A rs748242751 APBB1 Synonymous SNV G195G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.16 104245 chr11 5011957 5011957 G A rs771890155 MMP26 Synonymous SNV K150K 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Likely benign 11.27 104246 chr12 56096893 56096893 G A ITGA7 Synonymous SNV F92F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 104247 chr12 7045232 7045232 A G rs143136221 ATN1 Nonsynonymous SNV S268G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.084 104248 chr12 53086339 53086339 - CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGA KRT77 Stop gain E432Hfs*18 0.003 0 0 1 4 0 0.003 0 0 0 0 0 104249 chr14 32257017 32257017 T C rs61752327 NUBPL Nonsynonymous SNV V86A 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 104250 chr12 53298582 53298582 C A rs11554495 KRT8 Nonsynonymous SNV G62C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Pathogenic, risk factor 26 104251 chr12 56031413 56031413 G A OR10P1 Synonymous SNV L246L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.939 104252 chr11 6501613 6501613 C T rs16914023 ARFIP2 Synonymous SNV E13E 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 8.946 104253 chr11 93118643 93118643 G T rs148964852 DEUP1 Nonsynonymous SNV R290L 0.003 0 0 0 4 0 0 0 0 0 0 0 27.2 104254 chr12 63195674 63195674 G C rs375621486 PPM1H Synonymous SNV P226P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.84 104255 chr12 68719304 68719304 T C rs147349411 MDM1 Nonsynonymous SNV N184D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 7.105 104256 chr14 36946282 36946282 C T rs117932795 SFTA3 0.024 0.018 0.034 9 28 7 0.023 10 0 0 0 0 11.26 104257 chr14 37132706 37132706 C T rs61754301 PAX9 Synonymous SNV G203G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.27 104258 chr12 69124921 69124921 T C rs752781760 NUP107 Nonsynonymous SNV I560T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 104259 chr12 58018668 58018668 T G rs111924104 SLC26A10 Nonsynonymous SNV L416R 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 27.5 104260 chr11 540737 540739 TCC - rs759014538 LRRC56 V18_R19delinsG 0.001 0 0 0 1 0 0 0 0 0 0 0 104261 chr11 94129628 94129628 G A rs55802933 GPR83 Synonymous SNV A150A 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 10.53 104262 chr11 6541305 6541305 A G rs16914748 DNHD1 Synonymous SNV L586L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 5.746 104263 chr11 6550219 6550219 C A rs77782606 DNHD1 Nonsynonymous SNV P739T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.75 104264 chr12 57499995 57499995 C T rs138604557 STAT6 Nonsynonymous SNV S110N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 104265 chr11 65631113 65631113 G A rs371682816 MUS81 Synonymous SNV L294L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.263 104266 chr14 44975017 44975017 C T rs144204564 FSCB Nonsynonymous SNV A392T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.14 104267 chr12 71016424 71016424 C T rs370317655 PTPRB Nonsynonymous SNV G152S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 104268 chr12 57927809 57927809 G T DCTN2 Nonsynonymous SNV P201H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 21 104269 chr12 6458129 6458129 C T rs770217992 SCNN1A Nonsynonymous SNV V573I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.248 104270 chr14 50245183 50245183 A C KLHDC2 Nonsynonymous SNV T202P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.8 104271 chr12 55420867 55420867 G T rs149631320 NEUROD4 Nonsynonymous SNV G215V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 27.3 104272 chr12 75892481 75892481 A T rs144968885 GLIPR1 Synonymous SNV R209R 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 0.516 104273 chr12 66603980 66603980 A G rs56001649 IRAK3 Synonymous SNV K84K 0.006 0.003 0.014 0 7 1 0 4 0 0 1 0 Benign 8.654 104274 chr12 6666204 6666204 C T rs760843199 NOP2 Synonymous SNV R794R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 104275 chr11 66243148 66243148 C T rs145732233 PELI3 Nonsynonymous SNV A200V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 104276 chr12 70965707 70965707 G A rs545316317 PTPRB Synonymous SNV N693N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.643 104277 chr12 85492651 85492651 T A rs745735652 LRRIQ1 Nonsynonymous SNV S1030T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 18.98 104278 chr14 52481924 52481924 G T rs781262010 NID2 Nonsynonymous SNV T1033N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.131 104279 chr12 102576393 102576393 G A rs773663765 PARPBP Synonymous SNV E336E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.37 104280 chr12 10342504 10342504 C T rs777308706 TMEM52B Nonsynonymous SNV S86L 0.004 0 0 0 5 0 0 0 0 0 0 0 32 104281 chr11 55111365 55111365 A G rs75741638 OR4A16 Nonsynonymous SNV E230G 0.037 0.023 0 11 44 9 0.028 0 0 0 0 0 0.003 104282 chr11 55111382 55111382 C T rs78913302 OR4A16 Nonsynonymous SNV P236S 0.025 0.021 0 8 29 8 0.021 0 0 0 0 0 0.178 104283 chr11 55111405 55111405 T C rs78131590 OR4A16 Synonymous SNV I243I 0.016 0.013 0 7 19 5 0.018 0 0 0 0 0 0.017 104284 chr11 55111406 55111406 G A rs76998459 OR4A16 Nonsynonymous SNV V244M 0.016 0.013 0 7 19 5 0.018 0 0 0 0 0 21 104285 chr12 104126948 104126948 A G rs143223787 STAB2 Nonsynonymous SNV I1816M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 104286 chr19 2396550 2396550 A G rs372974940 TMPRSS9 Synonymous SNV T52T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.023 104287 chr14 54418817 54418817 C G rs140920120 BMP4 Nonsynonymous SNV A42P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.44 104288 chr19 24346027 24346027 G A rs148927771 HAVCR1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 8.703 104289 chr12 70087647 70087650 CTGG - rs747422591 BEST3 Q96Lfs*2 0.002 0 0 2 2 0 0.005 0 0 0 0 0 104290 chr12 70087653 70087656 CCAC - rs768845694 BEST3 Stop gain W93* 0.002 0 0 2 2 0 0.005 0 0 0 0 0 104291 chr11 55111659 55111659 G A rs74493697 OR4A16 Nonsynonymous SNV R328Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.044 104292 chr12 93226501 93226501 T C rs761976116 EEA1 Synonymous SNV Q347Q 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 0.003 104293 chr19 30104871 30104871 G T rs61731483 POP4 Nonsynonymous SNV R173L 0.009 0.01 0.014 3 11 4 0.008 4 0 0 0 0 23.6 104294 chr14 58048025 58048025 C T rs201588441 SLC35F4 Synonymous SNV T237T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 104295 chr19 31770504 31770504 G A rs778658111 TSHZ3 Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.112 104296 chr12 95681533 95681533 A G rs61735395 VEZT Synonymous SNV K330K 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 5.445 104297 chr14 59930970 59930970 G T GPR135 Nonsynonymous SNV S325R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 104298 chr11 6806393 6806393 A G rs11826041 OR2AG1 Nonsynonymous SNV N42S 0.002 0.008 0.003 3 2 3 0.008 1 0 0 0 0 22.6 104299 chr11 6806463 6806463 G C rs146577557 OR2AG1 Nonsynonymous SNV Q65H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 20.7 104300 chr11 6806609 6806609 T C rs74328035 OR2AG1 Nonsynonymous SNV L114P 0.002 0.008 0.003 3 2 3 0.008 1 0 0 0 0 24.7 104301 chr12 69982004 69982004 T C CCT2 Synonymous SNV A89A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.703 104302 chr12 70049122 70049122 G A rs74799373 BEST3 Synonymous SNV T311T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.969 104303 chr12 97041734 97041734 T C rs374131929 CFAP54 Synonymous SNV N1543N 0.006 0.013 0.007 3 7 5 0.008 2 0 0 0 0 0.396 104304 chr12 9008180 9008180 C T rs199873022 A2ML1 Nonsynonymous SNV T456M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 24 104305 chr12 85531684 85531684 T G rs61740224 LRRIQ1 Nonsynonymous SNV I1422M 0.008 0.01 0.017 3 9 4 0.008 5 0 0 1 0 14.43 104306 chr12 70933776 70933776 C T rs80321853 PTPRB Nonsynonymous SNV R1566H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 22.6 104307 chr12 70949046 70949046 A C rs372728402 PTPRB Nonsynonymous SNV D1371E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.134 104308 chr11 6898365 6898365 T C rs79248635 OR10A4 Nonsynonymous SNV W163R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.4 104309 chr12 75444280 75444280 T G rs201880430 KCNC2 Nonsynonymous SNV Q502P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 104310 chr14 64444625 64444625 C A rs35554503 SYNE2 Nonsynonymous SNV S432R 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Benign 16.49 104311 chr14 64473899 64473899 A G rs11158524 SYNE2 Synonymous SNV T1512T 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 Benign 0.006 104312 chr14 64497894 64497894 C A rs34625768 SYNE2 Nonsynonymous SNV A2347E 0.001 0.013 0.003 0 1 5 0 1 0 0 0 0 Benign 0.194 104313 chr14 64497929 64497929 A G rs7157465 SYNE2 Nonsynonymous SNV S2359G 0.001 0.013 0.003 0 1 5 0 1 0 0 0 0 Benign 0.939 104314 chr12 95442943 95442943 C T rs111814314 NR2C1 Synonymous SNV A344A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.37 104315 chr13 103390083 103390083 C T rs201135379 CCDC168 Nonsynonymous SNV G4322S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 2.631 104316 chr11 70331641 70331641 G A rs141276059 SHANK2 Nonsynonymous SNV P998L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 27.9 104317 chr14 64574276 64574276 A T rs34480732 SYNE2 Nonsynonymous SNV N4187I 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Likely benign 3.36 104318 chr12 6761893 6761893 G A rs117012163 ING4 Synonymous SNV S121S 0.004 0.01 0.01 4 5 4 0.01 3 0 0 0 0 12.39 104319 chr14 64604634 64604634 T C rs8007874 SYNE2 Synonymous SNV L4926L 0.002 0.013 0 0 2 5 0 0 0 0 0 0 Benign 4.994 104320 chr11 70331937 70331937 G A rs143595073 SHANK2 Synonymous SNV A899A 0.017 0.01 0.017 2 20 4 0.005 5 0 0 0 0 Likely benign 8.267 104321 chr12 81533005 81533005 C G ACSS3 Nonsynonymous SNV H246Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 104322 chr12 97112267 97112267 A G rs374859934 CFAP54 Synonymous SNV K2257K 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.378 104323 chr12 8757429 8757429 A C rs748806207 AICDA Nonsynonymous SNV S163A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.56 104324 chr11 72084035 72084035 G A rs149056885 CLPB Nonsynonymous SNV R224W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.7 104325 chr12 98926972 98926972 C T rs139512723 TMPO Synonymous SNV L313L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.53 104326 chr12 99100365 99100365 T A APAF1 Nonsynonymous SNV S846T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 104327 chr12 9845703 9845703 C G rs116932414 CLEC2D Nonsynonymous SNV P179A 0.009 0.008 0.007 9 10 3 0.023 2 1 0 0 0 0.155 104328 chr19 37005998 37005998 A G rs61743049 ZNF260 Nonsynonymous SNV M48T 0.011 0.018 0.017 7 13 7 0.018 5 0 0 1 0 0.028 104329 chr12 9242596 9242596 C T rs373992205 A2M Nonsynonymous SNV A724T 0.003 0 0 0 4 0 0 0 0 0 0 0 26 104330 chr13 111286921 111286921 C T rs149987125 NAXD Synonymous SNV D65D 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 5.917 104331 chr12 117669802 117669802 C T rs372660293 NOS1 Nonsynonymous SNV E788K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 104332 chr13 103391380 103391380 C T rs1005743150 CCDC168 Synonymous SNV Q3889Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.059 104333 chr12 118575842 118575842 A G PEBP1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 104334 chr12 7586119 7586119 C T rs146684411 CD163L1 Nonsynonymous SNV R99H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.375 104335 chr12 119916912 119916912 G A rs201658562 CCDC60 Nonsynonymous SNV E119K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 104336 chr12 91502457 91502457 G A rs141944101 LUM Synonymous SNV N100N 0.006 0.003 0 0 7 1 0 0 0 0 0 0 2.685 104337 chr11 75917429 75917429 C T rs765357091 WNT11 Nonsynonymous SNV C8Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.81 104338 chr13 20763264 20763264 C T rs111033186 GJB2 Nonsynonymous SNV V153I 0.014 0.01 0.02 5 16 4 0.013 6 0 0 0 0 Benign/Likely benign 5.981 104339 chr11 76814137 76814137 G A rs371003394 OMP Synonymous SNV S84S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 104340 chr13 111109648 111109648 G A rs201033293 COL4A2-AS2 Nonsynonymous SNV R142C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 104341 chr12 121605383 121605383 C T rs28360456 P2RX7 Synonymous SNV D279D 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 13.22 104342 chr13 23904298 23904298 T G rs34382952 SACS Nonsynonymous SNV N4426H 0.014 0.013 0.003 4 16 5 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 104343 chr13 23909041 23909041 G A SACS Nonsynonymous SNV L2845F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 104344 chr13 111109725 111109725 G A rs202017641 COL4A2 Nonsynonymous SNV A459T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 12.09 104345 chr12 122246185 122246185 G C rs920970084 SETD1B Nonsynonymous SNV E206Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 104346 chr19 39230789 39230789 C T rs147906486 CAPN12 Nonsynonymous SNV V211M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 31 104347 chr19 39292750 39292750 T G LGALS4 Nonsynonymous SNV H236P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 104348 chr12 122396990 122396990 T C rs75883955 WDR66 Nonsynonymous SNV M708T 0.009 0.018 0.01 0 10 7 0 3 0 0 0 0 25.8 104349 chr19 39787177 39787177 T C rs779131342 IFNL1 Nonsynonymous SNV F39S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 104350 chr13 100982822 100982822 A C PCCA Synonymous SNV T405T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.418 104351 chr19 39868202 39868202 C T rs777657130 SAMD4B Synonymous SNV Y394Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.109 104352 chr19 4013123 4013123 C T rs142623244 PIAS4 Nonsynonymous SNV P77L 0.003 0.008 0.007 4 3 3 0.01 2 0 0 0 0 18.42 104353 chr11 7950141 7950141 G A rs138970946 OR10A6 Synonymous SNV L23L 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 0.059 104354 chr11 7960553 7960553 T C rs116697699 OR10A3 Nonsynonymous SNV N172S 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 0.326 104355 chr13 114526430 114526430 - CAAA GAS6 Frameshift insertion A524Vfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 104356 chr13 113900349 113900349 C T rs138665383 CUL4A Nonsynonymous SNV T537M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 104357 chr12 123482054 123482054 G A rs143865800 PITPNM2 Synonymous SNV H430H 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 8.615 104358 chr19 40540309 40540309 G A ZNF780B Synonymous SNV D819D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.555 104359 chr13 114514819 114514819 - GCCA rs761035429 TMEM255B Frameshift insertion C261Afs*28 0.002 0 0 0 2 0 0 0 0 0 0 0 104360 chr13 114514820 114514820 T G rs762526497 TMEM255B Nonsynonymous SNV C261G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 104361 chr13 103514609 103514609 T A rs150791877 BIVM-ERCC5, ERCC5 Synonymous SNV R370R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.179 104362 chr13 114514823 114514823 - CC rs764389181 TMEM255B Frameshift insertion Y262Sfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 104363 chr13 20224202 20224202 G T rs75390100 MPHOSPH8 Nonsynonymous SNV D460Y 0.026 0.018 0.034 12 31 7 0.031 10 4 0 0 0 28.7 104364 chr14 81422130 81422130 G C rs61747482 TSHR Nonsynonymous SNV D36H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 16.55 104365 chr13 20635310 20635310 A G rs115802719 ZMYM2 Nonsynonymous SNV M953V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 2.105 104366 chr13 20641422 20641422 A G rs17075877 ZMYM2 Synonymous SNV T1115T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 1.06 104367 chr13 21732137 21732137 G A rs148901267 SKA3 Nonsynonymous SNV T348M 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 21.6 104368 chr19 41932474 41932474 A C rs142245951 B3GNT8 Nonsynonymous SNV F70L 0.004 0 0.02 3 5 0 0.008 6 0 0 0 0 0.001 104369 chr11 56237592 56237592 G A rs571938065 OR5M3 Synonymous SNV L128L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 0.074 104370 chr13 110829038 110829038 C T rs146288748 COL4A1 Nonsynonymous SNV R968Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.02 104371 chr14 92336595 92336595 C T rs990555759 FBLN5 Synonymous SNV R440R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.93 104372 chr19 42085880 42085880 C T rs139036367 CEACAM21 Nonsynonymous SNV T200I 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 8.973 104373 chr13 113732707 113732707 C T rs145119738 MCF2L Nonsynonymous SNV S526F 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 23 104374 chr13 41373460 41373460 A G TPTE2P5 0 0.003 0 0 0 1 0 0 0 0 0 0 6.957 104375 chr19 42804326 42804326 G C rs747920893 PAFAH1B3 Synonymous SNV P94P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.293 104376 chr19 44038590 44038590 G A rs760237290 ZNF575 Nonsynonymous SNV A6T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 104377 chr13 31318249 31318249 C T rs41351946 ALOX5AP Synonymous SNV S41S 0.012 0.005 0.007 5 14 2 0.013 2 0 0 0 0 Benign 12.94 104378 chr11 94731900 94731900 G A rs374508120 KDM4D Nonsynonymous SNV R455H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 104379 chr14 94956030 94956030 C T rs142210723 SERPINA12 Nonsynonymous SNV G327D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 104380 chr13 114507877 114507877 C G rs143843377 TMEM255B Nonsynonymous SNV A230G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 104381 chr13 109859071 109859071 G A rs139848765 MYO16 Nonsynonymous SNV A1844T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.01 104382 chr13 37595622 37595622 A G rs760465730 SUPT20H Synonymous SNV N593N 0.005 0.005 0 0 6 2 0 0 0 0 0 0 8.069 104383 chr19 44591014 44591014 A G rs74530567 ZNF284 Synonymous SNV G461G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.096 104384 chr19 44661962 44661962 G T rs201700903 ZNF234 Nonsynonymous SNV C598F 0 0 0.003 0 0 0 0 1 0 0 0 0 28 104385 chr19 44739630 44739630 G C rs372444413 ZNF227 Nonsynonymous SNV E270D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 104386 chr12 102433661 102433661 G A rs189532542 WASHC3 Synonymous SNV L139L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 8.697 104387 chr15 101169757 101169757 C T rs372767780 ASB7 Synonymous SNV I109I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 104388 chr12 104138980 104138980 G A rs116894406 STAB2 Nonsynonymous SNV D2021N 0.03 0.018 0.017 10 35 7 0.026 5 1 0 1 0 Benign 23.6 104389 chr13 28498702 28498702 C A rs199644078 PDX1 Nonsynonymous SNV P239Q 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign/Likely benign 23.9 104390 chr13 45008765 45008765 T C rs2234260 TSC22D1 Synonymous SNV A86A 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 0.002 104391 chr13 28542791 28542802 TGGTGGTGCGGA - rs758826814 CDX2 H122_H125del 0.002 0.008 0 0 2 3 0 0 0 0 0 0 104392 chr13 46658450 46658450 T C rs574629493 CPB2 Nonsynonymous SNV D60G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 104393 chr12 105591603 105591603 A G rs201147739 APPL2 Nonsynonymous SNV M337T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 104394 chr13 48528408 48528408 G C SUCLA2 Nonsynonymous SNV A325G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 104395 chr13 31821177 31821177 C T rs9542305 B3GLCT Synonymous SNV L96L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.103 104396 chr12 21918787 21918787 T C rs752063865 KCNJ8 Nonsynonymous SNV K382R 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 22.8 104397 chr13 76427385 76427385 C T rs141386159 LMO7 Nonsynonymous SNV R1181W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 104398 chr15 25967038 25967038 A C rs984508215 ATP10A Nonsynonymous SNV L377V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 104399 chr19 45157256 45157256 A G rs142546426 PVR Nonsynonymous SNV N271S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.8 104400 chr19 45381860 45381860 C T rs144454647 NECTIN2 Nonsynonymous SNV R475W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 104401 chr19 45567607 45567615 CTCCTCCTC - CLASRP S321_S323del 0 0 0.003 0 0 0 0 1 0 0 0 0 104402 chr15 31330047 31330047 T C rs762634272 TRPM1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.8 104403 chr12 266699 266699 G A rs782396286 IQSEC3 Nonsynonymous SNV R458H 0.005 0 0 0 6 0 0 0 0 0 0 0 33 104404 chr13 99446909 99446909 C T rs751404028 DOCK9 Nonsynonymous SNV G2053R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.31 104405 chr12 2787051 2787051 G A rs143343491 CACNA1C-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.579 104406 chr15 34159969 34159969 C A rs61729120 AVEN Nonsynonymous SNV G234W 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 32 104407 chr13 73333935 73333935 A G rs141067458 DIS3 X836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 104408 chr14 100992227 100992227 G A rs143825676 WDR25 Synonymous SNV A116A 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 12.37 104409 chr13 73505365 73505365 T G rs143644781 PIBF1 Nonsynonymous SNV L598R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.4 104410 chr13 94197611 94197611 C T rs143872144 GPC6 Nonsynonymous SNV L86F 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 25.2 104411 chr13 46093140 46093140 G A rs759431041 COG3 Nonsynonymous SNV V689I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 104412 chr13 46170763 46170763 C A ERICH6B Nonsynonymous SNV E126D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.989 104413 chr14 104500301 104500301 G A rs76761167 TDRD9 Nonsynonymous SNV V1172I 0.017 0.021 0.007 10 20 8 0.026 2 0 0 0 0 21.1 104414 chr11 610578 610578 G A rs377634592 PHRF1 Synonymous SNV T1498T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.154 104415 chr13 96578002 96578002 G C rs776464667 UGGT2 Nonsynonymous SNV L743V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.36 104416 chr13 97639558 97639558 T C OXGR1 Synonymous SNV V152V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 104417 chr13 49076885 49076885 G A rs141373575 RCBTB2 Synonymous SNV A90A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.697 104418 chr15 41191163 41191163 G A rs140142469 VPS18 Nonsynonymous SNV A98T 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 9.593 104419 chr13 50125575 50125575 T C rs62637568 RCBTB1 Synonymous SNV A247A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 9.227 104420 chr13 50587204 50587204 A G rs144925984 TRIM13 Synonymous SNV T376T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 104421 chr13 41891011 41891011 T C rs780688690 NAA16 Synonymous SNV N28N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.199 104422 chr15 41988669 41988669 C T rs375806857 MGA Synonymous SNV P487P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.22 104423 chr19 49238694 49238694 C A rs776912733 RASIP1 Nonsynonymous SNV G313V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 104424 chr15 42136785 42136785 C T rs201204773 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV T332T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.87 104425 chr13 67205386 67205386 G A rs145894829 PCDH9 Nonsynonymous SNV P1023L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 33 104426 chr19 49379127 49379127 C - PPP1R15A S641Cfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 104427 chr14 105945817 105945817 C T rs144595865 CRIP2 Synonymous SNV L61L 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 13.89 104428 chr12 46316821 46316821 C T rs199882318 SCAF11 Synonymous SNV S1341S 0.003 0 0 0 4 0 0 0 0 0 0 0 18.16 104429 chr12 4702229 4702229 C T rs749041571 DYRK4 Synonymous SNV Y60Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.39 104430 chr19 49459554 49459554 C T rs201578495 BAX Synonymous SNV V33V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 104431 chr19 49481243 49481243 T C rs5447 GYS1 Nonsynonymous SNV M352V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 16.06 104432 chr14 103576475 103576475 C T rs778283542 EXOC3L4 Nonsynonymous SNV A695V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.939 104433 chr14 103996600 103996600 C T rs750014492 TRMT61A Synonymous SNV I95I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.81 104434 chr12 120168357 120168357 G A rs55993032 CIT Synonymous SNV L1101L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 9.323 104435 chr13 76055880 76055880 C T TBC1D4 Synonymous SNV Q8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 104436 chr13 78165565 78165565 A G rs141475107 SCEL Nonsynonymous SNV E199G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.2 104437 chr12 120636963 120636963 C T rs148524502 RPLP0 Synonymous SNV K92K 0.003 0 0.014 3 4 0 0.008 4 0 0 0 0 Benign 14.7 104438 chr19 50397571 50397571 T C rs746539078 IL4I1 Nonsynonymous SNV E174G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 104439 chr14 20925523 20925523 G C rs761043096 APEX1 Nonsynonymous SNV M271I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.6 104440 chr15 43714309 43714309 T C TP53BP1 Nonsynonymous SNV I1282V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.079 104441 chr19 504948 504948 G A rs150040042 MADCAM1 Nonsynonymous SNV G291R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 104442 chr13 96624885 96624885 C T rs148790612 UGGT2 Nonsynonymous SNV R378H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 104443 chr14 100125935 100125935 C A rs572979321 HHIPL1 Nonsynonymous SNV P406H 0.003 0 0 0 4 0 0 0 0 0 0 0 25.9 104444 chr19 50837572 50837572 C G rs139076199 NAPSB 0 0 0.007 0 0 0 0 2 0 0 0 0 12.82 104445 chr15 45392391 45392391 G A rs144759209 DUOX2 Nonsynonymous SNV A1014V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 25.7 104446 chr15 45394131 45394131 A G rs761399857 DUOX2 Nonsynonymous SNV V904A 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 104447 chr14 100705947 100705947 C T rs775769008 YY1 Synonymous SNV R122R 0.003 0 0 0 4 0 0 0 0 0 0 0 18.1 104448 chr14 100795180 100795180 C T rs144274838 SLC25A47 Nonsynonymous SNV P3S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 104449 chr14 105634336 105634336 C G rs767586602 JAG2 Nonsynonymous SNV A59P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 104450 chr12 49444920 49444920 G A rs370492566 KMT2D Nonsynonymous SNV S849L 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 8.494 104451 chr11 64508509 64508509 C T rs777139899 RASGRP2 Synonymous SNV P94P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 104452 chr15 48780353 48780353 G A rs140587 FBN1 Synonymous SNV D1098D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 9.918 104453 chr14 105932837 105932837 A G MTA1 Nonsynonymous SNV K567E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.37 104454 chr14 20404122 20404122 C A OR4K1 Synonymous SNV A99A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.075 104455 chr14 20586445 20586445 G A rs141368873 OR4K17 Nonsynonymous SNV G266S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.034 104456 chr12 124283801 124283801 A G rs118049936 DNAH10 Synonymous SNV Q606Q 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 Benign 0.004 104457 chr12 124820048 124820048 C T rs374690448 NCOR2 Synonymous SNV E2072E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 104458 chr14 20850853 20850853 G A rs146511904 TEP1 Nonsynonymous SNV R1249W 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 23.7 104459 chr12 51386017 51386017 G T rs144863268 SLC11A2 Nonsynonymous SNV L431I 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 27.1 104460 chr14 103999040 103999040 C T TRMT61A Synonymous SNV H151H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.37 104461 chr13 79911336 79911336 T G rs35724140 RBM26 Synonymous SNV R854R 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 10.99 104462 chr12 125299543 125299543 G A rs140920234 SCARB1 Synonymous SNV I134I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.38 104463 chr14 104643372 104643372 C T rs753428180 KIF26A Nonsynonymous SNV T1416M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 104464 chr14 23313684 23313684 C T rs138999323 MMP14 Synonymous SNV Y372Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 12.2 104465 chr14 105181630 105181631 CT - rs763988639 INF2 P1235Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 104466 chr12 129189944 129189944 G A TMEM132C Nonsynonymous SNV D811N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.694 104467 chr14 105350567 105350567 G A rs781591615 CEP170B Nonsynonymous SNV R414Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 104468 chr14 23991629 23991629 - C ZFHX2 Frameshift insertion L2421Afs*11 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 104469 chr14 105609325 105609325 C T rs146037139 JAG2 Nonsynonymous SNV G1104R 0.012 0.01 0 2 14 4 0.005 0 0 0 0 0 17.21 104470 chr14 24040510 24040510 C T rs760491606 JPH4 Nonsynonymous SNV R477Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.3 104471 chr14 21840202 21840202 G A SUPT16H Nonsynonymous SNV T54I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 104472 chr12 132426432 132426432 C T rs138198591 PUS1 Synonymous SNV T352T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.638 104473 chr11 6622396 6622396 G A rs370151554 RRP8 Synonymous SNV A300A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.856 104474 chr14 24675856 24675856 C T TSSK4 Nonsynonymous SNV P123S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.29 104475 chr15 63944648 63944648 T C rs772730922 HERC1 Synonymous SNV Q3461Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.858 104476 chr14 20612416 20612416 C T rs76001619 OR4N5 Synonymous SNV L174L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.62 104477 chr14 23103039 23103039 G A OR6J1 Synonymous SNV R226R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.439 104478 chr11 67430708 67430708 G A ALDH3B2 Nonsynonymous SNV S379F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.508 104479 chr15 65917553 65917553 A T rs374623693 SLC24A1 Nonsynonymous SNV T379S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 104480 chr19 53793911 53793911 T A rs7260390 BIRC8 0 0 0.136 0 0 0 0 40 0 0 18 0 7.84 104481 chr14 24032965 24032965 G A rs375198511 AP1G2 Nonsynonymous SNV R17W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 104482 chr19 53884200 53884200 C T rs572076035 ZNF525 Nonsynonymous SNV T123I 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 12.53 104483 chr14 24113634 24113634 A G rs138529470 DHRS2 Nonsynonymous SNV N186S 0.019 0.008 0.007 7 22 3 0.018 2 0 0 0 0 11.64 104484 chr14 21024740 21024740 G A rs373837965 RNASE9 Synonymous SNV Y163Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.946 104485 chr15 68120472 68120472 C T rs377719980 SKOR1 Nonsynonymous SNV A769V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 104486 chr15 70991912 70991912 T C UACA Nonsynonymous SNV K43E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 104487 chr12 55357635 55357635 G T rs184546735 TESPA1 Synonymous SNV P44P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 12.35 104488 chr14 31575966 31575966 C T HECTD1 Nonsynonymous SNV R2371H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 104489 chr12 55715203 55715203 A G rs896416318 OR6C1 Nonsynonymous SNV I274V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 104490 chr19 55179176 55179176 C T rs61743356 LILRB4 Nonsynonymous SNV P408S 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 0.001 104491 chr14 20784566 20784566 A C rs754432303 CCNB1IP1 Synonymous SNV G39G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.074 104492 chr12 55945467 55945467 G A rs137994571 OR6C4 Nonsynonymous SNV A153T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.319 104493 chr14 39716424 39716424 C T rs79728805 MIA2 Nonsynonymous SNV P216S 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 8.557 104494 chr12 57039665 57039665 G A rs755145018 ATP5F1B Nonsynonymous SNV P28L 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 104495 chr14 21549776 21549776 G A rs201733631 ARHGEF40 Nonsynonymous SNV G203S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 22.9 104496 chr12 57110722 57110722 G A rs767405121 NACA Nonsynonymous SNV A1531V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.98 104497 chr11 74800138 74800138 G A rs117824389 OR2AT4 Synonymous SNV I207I 0.017 0.005 0.02 5 20 2 0.013 6 0 0 0 0 11.01 104498 chr19 55913123 55913123 T C rs573318166 UBE2S Nonsynonymous SNV K117R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 104499 chr14 55227007 55227007 G A rs375153543 SAMD4A Synonymous SNV P26P 0 0.008 0 2 0 3 0.005 0 0 0 0 0 10.03 104500 chr14 24655513 24655513 G A rs757986970 IPO4 Nonsynonymous SNV P329S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 104501 chr14 58047956 58047956 C T rs371078276 SLC35F4 Synonymous SNV L260L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.76 104502 chr15 79296254 79296254 G A rs144852502 RASGRF1 Nonsynonymous SNV T12M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 104503 chr14 24507078 24507078 C T rs373705961 DHRS4L1 Synonymous SNV G3G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.939 104504 chr15 80855449 80855449 A C ARNT2 Nonsynonymous SNV Q395H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 104505 chr15 81234604 81234604 C T rs140790232 CEMIP Nonsynonymous SNV H1209Y 0.005 0.016 0.014 2 6 6 0.005 4 0 0 0 0 Benign 24.5 104506 chr14 24662132 24662132 C T rs756204607 TM9SF1 Nonsynonymous SNV R230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 104507 chr14 51370797 51370797 T C rs772094869 ABHD12B Synonymous SNV Y239Y 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.015 104508 chr14 31814441 31814441 A G rs749598172 HEATR5A Synonymous SNV A970A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.679 104509 chr14 24901648 24901648 G A rs771736626 KHNYN Nonsynonymous SNV R435Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 104510 chr12 42512966 42512966 - TCT rs779404771 GXYLT1 S76_L77insR 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 104511 chr12 42512967 42512967 - CAC rs757552564 GXYLT1 S76delinsRC 0.003 0 0 1 3 0 0.003 0 0 0 0 0 104512 chr12 42512971 42512971 - CCC rs780802318 GXYLT1 Y75delinsWD 0.001 0 0 1 1 0 0.003 0 0 0 0 0 104513 chr12 42512974 42512974 - CGCCGGAA rs773267462 GXYLT1 0.001 0 0 0 1 0 0 0 0 0 0 0 104514 chr19 56671238 56671238 C G ZNF444 Nonsynonymous SNV R217G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 104515 chr14 31856407 31856407 C T rs73259359 HEATR5A Nonsynonymous SNV G370S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 29.5 104516 chr12 66522779 66522779 G A rs149810949 LLPH Synonymous SNV D36D 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 0.131 104517 chr15 86265320 86265320 G A rs752923065 AKAP13 Synonymous SNV K738K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 13.82 104518 chr14 38092000 38092000 G A rs117333192 TTC6 Nonsynonymous SNV G260E 0.008 0.005 0.02 1 9 2 0.003 6 0 0 0 0 7.577 104519 chr12 6935479 6935479 C T GPR162 Synonymous SNV H108H 0.005 0 0 0 6 0 0 0 0 0 0 0 14.59 104520 chr14 39650489 39650489 G A rs145307846 PNN Nonsynonymous SNV E526K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.8 104521 chr14 69259778 69259778 T C ZFP36L1 Nonsynonymous SNV R29G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.078 104522 chr14 69521637 69521637 C T rs145517654 DCAF5 Nonsynonymous SNV R588H 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 22.7 104523 chr12 70953215 70953215 C T rs776345826 PTPRB Nonsynonymous SNV R1233H 0.003 0 0 0 3 0 0 0 0 0 0 0 20.6 104524 chr15 89876828 89876836 TGCTGCTGC - rs756833779 POLG Q53_Q55del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 104525 chr12 72083412 72083412 G A TMEM19 Nonsynonymous SNV V58I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 104526 chr14 52486783 52486783 T C rs144774059 NID2 Nonsynonymous SNV I930V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 104527 chr19 58861808 58861808 A G rs145144275 A1BG Nonsynonymous SNV C374R 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 28.2 104528 chr11 92086828 92086828 T C rs139595720 FAT3 Nonsynonymous SNV L517S 0.005 0.005 0.014 1 6 2 0.003 4 0 0 0 0 22.2 104529 chr12 7637795 7637795 A G rs79148200 CD163 Synonymous SNV N892N 0.012 0.034 0.01 7 14 13 0.018 3 0 0 0 0 Benign 0.003 104530 chr19 59010910 59010910 A G rs147464959 SLC27A5 Nonsynonymous SNV M455T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 12.14 104531 chr14 38091528 38091528 G A TTC6 Nonsynonymous SNV A103T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 21.8 104532 chr19 643568 643568 C T rs11572889 FGF22 Nonsynonymous SNV P152S 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 8.669 104533 chr19 6477270 6477270 C T rs752207564 DENND1C Nonsynonymous SNV G114R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.711 104534 chr14 56117334 56117341 CCAGCTTG - KTN1 Q849Kfs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 104535 chr15 91454168 91454168 C T rs142815948 MAN2A2 Nonsynonymous SNV P618S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.6 104536 chr14 55817328 55817328 A T FBXO34 Nonsynonymous SNV S74C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 104537 chr14 69704405 69704405 A G rs200113172 EXD2 Nonsynonymous SNV Y344C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 104538 chr12 100711697 100711697 G A rs56002815 SCYL2 Synonymous SNV Q463Q 0.011 0.008 0.003 5 13 3 0.013 1 0 0 0 0 9.669 104539 chr19 7542122 7542122 C T rs372556304 PEX11G Nonsynonymous SNV R170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.748 104540 chr12 8612233 8612233 G C CLEC6A Synonymous SNV L24L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.109 104541 chr16 1129001 1129001 G A rs751149190 SSTR5 Nonsynonymous SNV V45M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.902 104542 chr19 7809880 7809880 C T rs139712001 CD209 Nonsynonymous SNV A147T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 104543 chr19 7828180 7828180 C A rs145497205 CLEC4M Nonsynonymous SNV Q10K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.6 104544 chr12 104326121 104326121 G A rs11547724 HSP90B1 Synonymous SNV S73S 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Benign 8.582 104545 chr12 105443766 105443766 A G rs1015506000 ALDH1L2 Nonsynonymous SNV Y536H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 104546 chr14 64692053 64692053 C T rs769789774 SYNE2 Nonsynonymous SNV R367W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 104547 chr12 10658510 10658510 C T rs61734595 EIF2S3B Synonymous SNV G3G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.56 104548 chr12 10658915 10658915 C T rs139882003 EIF2S3B Synonymous SNV H138H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.69 104549 chr12 10659584 10659584 C T rs61734588 EIF2S3B Synonymous SNV V361V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 8.429 104550 chr12 10659666 10659666 G A rs61734590 EIF2S3B Nonsynonymous SNV D389N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 15.31 104551 chr14 69993999 69993999 G A rs530372706 PLEKHD1 Nonsynonymous SNV R384Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.6 104552 chr12 96422843 96422843 C T rs143721623 LTA4H Nonsynonymous SNV A94T 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 Likely benign 22.3 104553 chr14 89343670 89343670 G C rs142073418 TTC8 Synonymous SNV A420A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.08 104554 chr14 70263530 70263530 C T rs138880008 SLC10A1 Nonsynonymous SNV D115N 0.009 0.005 0 0 11 2 0 0 0 0 0 0 Uncertain significance 33 104555 chr16 15818225 15818225 G A rs112377790 MYH11 Synonymous SNV T1386T 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Benign/Likely benign 14.09 104556 chr14 67746144 67746144 G T MPP5 Nonsynonymous SNV R52I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 104557 chr16 1756430 1756430 G C MAPK8IP3 Synonymous SNV S30S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.134 104558 chr16 1817654 1817654 C T rs777726573 MAPK8IP3 Synonymous SNV D1102D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.48 104559 chr12 110496921 110496921 T C rs969921013 C12orf76 Nonsynonymous SNV I21M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.297 104560 chr12 53457038 53457038 G A TNS2 Nonsynonymous SNV R1340K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24 104561 chr14 90397972 90397972 C T rs200626268 EFCAB11 Nonsynonymous SNV R108H 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 104562 chr14 70633465 70633465 G A rs527303091 SLC8A3 Nonsynonymous SNV R559W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.7 104563 chr14 75230654 75230654 T A rs139231018 YLPM1 Synonymous SNV P154P 0.013 0.016 0 5 15 6 0.013 0 0 1 0 0 Benign 0.019 104564 chr14 75279443 75279443 C T rs372350383 YLPM1 Synonymous SNV D1820D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 104565 chr14 64749623 64749623 G A rs145033525 ESR2 Synonymous SNV H27H 0.01 0.008 0 4 12 3 0.01 0 1 0 0 0 Likely benign 0.126 104566 chr13 103492092 103492092 G A rs34572873 BIVM, BIVM-ERCC5 Synonymous SNV G241G 0.004 0.01 0.003 4 5 4 0.01 1 0 0 0 0 Benign 4.695 104567 chr14 76173980 76173980 G A rs17849666 TTLL5 Nonsynonymous SNV V224M 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 104568 chr14 65494489 65494489 G A rs761928445 CHURC1-FNTB, FNTB Nonsynonymous SNV V199M 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 25.6 104569 chr14 74535660 74535660 G A rs139579994 ALDH6A1 Nonsynonymous SNV P239L 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.9 104570 chr15 25936865 25936865 C T rs115069056 ATP10A Nonsynonymous SNV M1054I 0.014 0.003 0.007 4 16 1 0.01 2 0 0 0 0 24.4 104571 chr15 26108193 26108193 C T rs923301516 ATP10A Synonymous SNV R17R 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 14.4 104572 chr14 77944608 77944608 T C ISM2 Nonsynonymous SNV M277V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.059 104573 chr15 28326981 28326981 C T rs368928996 OCA2 Nonsynonymous SNV A14T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.004 104574 chr12 57109947 57109947 A G NACA Synonymous SNV S1789S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.206 104575 chr15 30025358 30025358 G C rs201315605 TJP1 Nonsynonymous SNV A559G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 27.7 104576 chr15 31197452 31197452 T C FAN1 Nonsynonymous SNV S196P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.22 104577 chr16 23652434 23652434 T C rs1060504718 PALB2 Synonymous SNV E15E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 7.02 104578 chr13 113795286 113795286 G A rs61753266 F10 Nonsynonymous SNV E142K 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 104579 chr15 101445793 101445793 G A rs112582857 ALDH1A3 Synonymous SNV K271K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 12.67 104580 chr19 9362339 9362339 G A OR7E24 Nonsynonymous SNV C207Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 104581 chr15 33446349 33446349 G A FMN1 Nonsynonymous SNV A256V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.42 104582 chr16 270724 270724 G A rs201028787 LUC7L Nonsynonymous SNV T60I 0.002 0 0 0 2 0 0 0 0 0 0 0 23 104583 chr19_gl000209_random 88315 88315 T A KIR2DL5A, KIR2DL5B Synonymous SNV G25G 0 0 0.218 0 0 0 0 64 0 0 22 0 104584 chr19_gl000209_random 88540 88540 A G KIR2DL5A, KIR2DL5B Synonymous SNV P100P 0 0 0.262 0 0 0 0 77 0 0 27 0 104585 chr19_gl000209_random 88561 88561 A G KIR2DL5A, KIR2DL5B Synonymous SNV S107S 0 0 0.245 0 0 0 0 72 0 0 25 0 104586 chr19_gl000209_random 89632 89632 A G KIR2DL5A, KIR2DL5B Nonsynonymous SNV N173D 0 0 0.269 0 0 0 0 79 0 0 27 0 104587 chr19_gl000209_random 89698 89698 G A KIR2DL5A, KIR2DL5B Nonsynonymous SNV G195S 0 0 0.269 0 0 0 0 79 0 0 27 0 104588 chr15 101561317 101561317 G A rs762674468 LRRK1 Nonsynonymous SNV D557N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.67 104589 chr15 28326915 28326915 G A rs148066812 OCA2 Nonsynonymous SNV R36C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Uncertain significance 10.75 104590 chr1 104615794 104615794 G T rs3811504 LOC100129138 0 0 0.014 0 0 0 0 4 0 0 0 0 3.693 104591 chr1 1078583 1078583 C T rs12737205 LINC01342 0 0 0.041 0 0 0 0 12 0 0 0 0 5.259 104592 chr14 88652205 88652205 G A rs138505103 KCNK10 Synonymous SNV L431L 0.003 0.013 0.01 2 3 5 0.005 3 0 0 0 0 0.006 104593 chr14 76644266 76644266 C T rs117516637 GPATCH2L Stop gain R362X 0.026 0.018 0.007 9 31 7 0.023 2 1 0 0 0 18.76 104594 chr14 89206748 89206748 T C rs776413793 EML5 Nonsynonymous SNV I232V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.923 104595 chr1 109242013 109242018 AGTCGC - rs770248187 PRPF38B S197_R198del 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 104596 chr14 92442465 92442465 C T TRIP11 Nonsynonymous SNV G1776R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 104597 chr12 124256154 124256154 G A rs775604149 DNAH10 Nonsynonymous SNV R102H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.003 104598 chr14 77493765 77493767 TGC - IRF2BPL Q127del 0.009 0 0 3 11 0 0.008 0 0 0 0 0 104599 chr15 29418546 29418546 G A rs535160136 FAM189A1 Synonymous SNV G384G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 104600 chr12 65563415 65563415 G A rs373288363 LEMD3 Synonymous SNV S13S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 12.28 104601 chr1 109716149 109716149 A T rs199660944 KIAA1324 Synonymous SNV S148S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.048 104602 chr16 30409466 30409466 G C rs137913110 ZNF48 Nonsynonymous SNV G176R 0.002 0 0 0 2 0 0 0 0 0 0 0 25 104603 chr1 110031648 110031648 A G rs377046901 ATXN7L2 Synonymous SNV V353V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.696 104604 chr1 110199381 110199381 C T rs200076614 GSTM4 Synonymous SNV Y28Y 0 0 0.007 0 0 0 0 2 0 0 0 0 9.335 104605 chr12 12653490 12653490 T C rs150403725 DUSP16 Nonsynonymous SNV N165S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 104606 chr1 110199383 110199383 A T rs771270404 GSTM4 Nonsynonymous SNV E29V 0 0 0.007 0 0 0 0 2 0 0 0 0 18.58 104607 chr15 37387791 37387791 A G rs760522172 MEIS2 Nonsynonymous SNV S125P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 32 104608 chr1 110199396 110199396 T C rs3206441 GSTM4 Synonymous SNV Y33Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 104609 chr12 66712505 66712505 A G rs140510912 HELB Synonymous SNV T696T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.383 104610 chr14 81945991 81945991 C T rs1051193 SEL1L Nonsynonymous SNV V714I 0.021 0.023 0.014 13 25 9 0.033 4 0 0 0 0 6.293 104611 chr12 6700944 6700944 G A CHD4 Synonymous SNV I1039I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 104612 chr12 6806561 6806561 C T rs868149476 PIANP Nonsynonymous SNV A139T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 104613 chr1 111703858 111703858 C T CEPT1 Nonsynonymous SNV T190I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 104614 chr15 38805031 38805032 GC - RASGRP1 P268Afs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 104615 chr1 111853104 111853104 T C rs200053948 CHIA Synonymous SNV I5I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.347 104616 chr12 6981627 6981627 G A rs149136882 SPSB2 Nonsynonymous SNV P147S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.98 104617 chr13 38143509 38143509 C A POSTN Nonsynonymous SNV V700F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 104618 chr15 41797964 41797964 T C rs199965576 LTK Synonymous SNV E418E 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.675 104619 chr13 41533078 41533078 G A rs370759144 ELF1 Synonymous SNV A49A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.021 104620 chr15 41797170 41797170 C T rs55876255 LTK Nonsynonymous SNV R543Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 104621 chr1 116226594 116226594 C T rs771681975 VANGL1 Nonsynonymous SNV R324W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 104622 chr16 354313 354313 G A rs779683215 AXIN1 Synonymous SNV R415R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.19 104623 chr15 102346083 102346083 G A rs61746768 OR4F6 Nonsynonymous SNV R54H 0.008 0.021 0.024 6 9 8 0.015 7 0 0 0 1 0.001 104624 chr16 3707742 3707742 G C rs779566278 DNASE1 Synonymous SNV L242L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.25 104625 chr15 42364038 42364038 C T rs191357380 PLA2G4D Nonsynonymous SNV G503S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 33 104626 chr12 81205379 81205379 G T rs73137257 LIN7A Synonymous SNV T118T 0.017 0.01 0.003 5 20 4 0.013 1 1 0 0 0 Benign 10.94 104627 chr12 83526032 83526032 A G rs200371221 TMTC2 Nonsynonymous SNV N547S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 104628 chr12 21446936 21446936 T C rs11568574 SLCO1A2 Synonymous SNV S460S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.982 104629 chr12 21453466 21453466 G A rs11568550 SLCO1A2 Synonymous SNV V242V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 14.12 104630 chr12 21643223 21643223 C T rs1065751 RECQL Nonsynonymous SNV V102I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 21.1 104631 chr12 89992960 89992960 G A rs377632094 ATP2B1 Synonymous SNV H908H 0.003 0 0 0 3 0 0 0 0 0 0 0 6.098 104632 chr15 31221581 31221581 C T rs749256515 FAN1 Nonsynonymous SNV T923M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 104633 chr15 50593003 50593003 T C rs141883945 GABPB1 Nonsynonymous SNV N239S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.4 104634 chr12 26781059 26781059 A C rs755151702 ITPR2 Nonsynonymous SNV Y991D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 104635 chr15 45404807 45404807 C T rs757185360 DUOX2 Synonymous SNV R90R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 104636 chr16 50338341 50338341 C T rs61731915 ADCY7 Nonsynonymous SNV A480V 0.009 0.01 0.01 3 10 4 0.008 3 0 0 0 0 34 104637 chr15 52672033 52672033 G A rs143800513 MYO5A Synonymous SNV A695A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.421 104638 chr1 146585146 146585146 A G rs151315300 NBPF13P 0 0 0.027 0 0 0 0 8 0 0 0 0 2.75 104639 chr15 34517783 34517783 G A EMC4 Nonsynonymous SNV V45I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.81 104640 chr16 5094830 5094830 - C rs745715452 C16orf89 Frameshift insertion S322Lfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 104641 chr1 150064405 150064405 G T VPS45 Nonsynonymous SNV A320S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 104642 chr16 53721779 53721779 T C rs146584570 RPGRIP1L Nonsynonymous SNV N210D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 22.1 104643 chr1 150443256 150443256 T C rs767340916 RPRD2 Nonsynonymous SNV I585T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 104644 chr16 53730122 53730122 C A rs146925098 RPGRIP1L Nonsynonymous SNV L57F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 104645 chr15 40591336 40591336 T G PLCB2 Nonsynonymous SNV T226P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 104646 chr15 55653086 55653086 G A CCPG1 Synonymous SNV S295S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 104647 chr15 40545004 40545004 G A C15orf56 Nonsynonymous SNV A29V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.13 104648 chr15 58471357 58471357 G A rs142159680 AQP9 Nonsynonymous SNV V111I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.222 104649 chr12 32135740 32135740 T C rs147191685 RESF1 Synonymous SNV N617N 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 0.184 104650 chr15 29415566 29415566 G A FAM189A1 Synonymous SNV G532G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.286 104651 chr15 40751824 40751824 G C BAHD1 Synonymous SNV G387G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.25 104652 chr15 40861894 40861894 G A rs373208568 RPUSD2 Nonsynonymous SNV G120R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 25.9 104653 chr15 56959044 56959044 T C rs749811290 ZNF280D Synonymous SNV T549T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 104654 chr15 57809153 57809153 C T rs199779940 CGNL1 Nonsynonymous SNV A860V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.17 104655 chr15 41149125 41149125 C T rs746559628 SPINT1 Synonymous SNV T498T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.42 104656 chr14 102452266 102452266 T C rs192959810 DYNC1H1 Synonymous SNV L568L 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.289 104657 chr15 41032340 41032343 CAGT - RMDN3 D320Vfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 104658 chr16 57758737 57758737 G A rs144451928 DRC7 Nonsynonymous SNV R518Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29 104659 chr15 59399869 59399869 G A rs35033821 CCNB2 Synonymous SNV K89K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 16.41 104660 chr1 152287342 152287342 T - rs34224823 FLG-AS1 0 0 0.092 0 0 0 0 27 0 0 4 0 104661 chr14 103396640 103396640 T C AMN Nonsynonymous SNV L382P 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 104662 chr16 58054080 58054080 G A rs190283472 USB1 Synonymous SNV L225L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 8.623 104663 chr1 152692386 152692386 A G rs755843513 C1orf68 Nonsynonymous SNV Q130R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 104664 chr16 58077154 58077154 C T rs151142416 MMP15 Synonymous SNV P448P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 104665 chr12 45725152 45725152 T C rs142459456 ANO6 Synonymous SNV Y75Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 1 0.524 104666 chr15 66411452 66411452 G T rs148541683 MEGF11 Synonymous SNV G91G 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 9.858 104667 chr1 154029357 154029357 G C rs375791657 NUP210L Synonymous SNV T1058T 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 9.764 104668 chr1 154493898 154493898 A G rs200427247 TDRD10 Synonymous SNV T104T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.618 104669 chr16 668209 668209 G A rs778294513 RAB40C Synonymous SNV S71S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.94 104670 chr15 63132785 63132785 C T rs779993722 TLN2 Synonymous SNV T2535T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.569 104671 chr15 44067985 44067985 A G rs35454865 ELL3 Nonsynonymous SNV W140R 0.002 0.005 0.007 6 2 2 0.015 2 0 0 0 0 12.52 104672 chr15 42630673 42630673 A G rs117899880 GANC Nonsynonymous SNV I610V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 26.2 104673 chr15 42678480 42678480 C T rs1801324 CAPN3 Synonymous SNV F165F 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign/Likely benign 15.25 104674 chr12 48919768 48919768 G A rs146578766 OR8S1 Nonsynonymous SNV M118I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.1 104675 chr15 42684875 42684875 C T rs28364441 CAPN3 Synonymous SNV C280C 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign/Likely benign 15.31 104676 chr15 42978349 42978349 A G rs918712361 STARD9 Nonsynonymous SNV S1525G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 104677 chr15 43503695 43503695 C T EPB42 Nonsynonymous SNV M186I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.445 104678 chr12 49435116 49435116 G A rs563981206 KMT2D Nonsynonymous SNV P2146L 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 Likely benign 23.6 104679 chr13 115091073 115091073 G T rs117710037 CHAMP1 Nonsynonymous SNV A586S 0.01 0.005 0.017 7 12 2 0.018 5 0 0 0 0 1.127 104680 chr1 1563121 1563121 A G rs201037166 MIB2 Nonsynonymous SNV Q581R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.002 104681 chr1 156351189 156351189 C T rs769185696 RHBG Nonsynonymous SNV A242V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 104682 chr15 69003982 69003982 C T rs369834620 CORO2B Synonymous SNV L190L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 104683 chr15 75941897 75941897 C T rs79030022 SNX33 Nonsynonymous SNV P152S 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 3.779 104684 chr12 50754577 50754577 G C rs201711271 FAM186A Nonsynonymous SNV S182C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.01 104685 chr15 77329473 77329473 G C rs369113632 PSTPIP1 Nonsynonymous SNV G384R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 104686 chr13 24860519 24860519 G A rs36019629 SPATA13 Synonymous SNV A120A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.9 104687 chr16 72831629 72831629 G A rs117283459 ZFHX3 Nonsynonymous SNV T737M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 23 104688 chr1 157062594 157062594 T C rs149756524 ETV3L Synonymous SNV E311E 0 0 0.01 0 0 0 0 3 0 0 0 0 0.01 104689 chr13 25338449 25338449 A G rs144807650 RNF17 Synonymous SNV G36G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.194 104690 chr12 52408832 52408832 G T GRASP Nonsynonymous SNV G203V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 104691 chr15 77310555 77310555 A G PSTPIP1 Nonsynonymous SNV M35V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 104692 chr15 58830619 58830619 A G rs765991775 LIPC Nonsynonymous SNV N59S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.04 104693 chr15 79254525 79254525 G A rs34016249 RASGRF1 Synonymous SNV Y477Y 0.007 0.01 0.01 2 8 4 0.005 3 0 0 0 0 Benign 9.401 104694 chr15 85383296 85383296 T C rs769935855 ALPK3 Synonymous SNV G262G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.948 104695 chr13 32313765 32313765 G T rs748227549 RXFP2 Nonsynonymous SNV V6F 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.019 104696 chr15 86286792 86286792 C A rs747760163 AKAP13 Nonsynonymous SNV P1331T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.77 104697 chr15 83316545 83316545 G A rs587671165 CPEB1-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.73 104698 chr16 814942 814942 G A rs34695957 MSLN Nonsynonymous SNV R139H 0.02 0.005 0.044 11 24 2 0.028 13 0 0 0 0 0.008 104699 chr12 53445677 53445677 T C rs147085802 TNS2 Synonymous SNV V48V 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 8.496 104700 chr13 37014297 37014297 G A rs748235047 CCNA1 Nonsynonymous SNV V358I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 1.676 104701 chr15 66995970 66995970 C T rs759468399 SMAD6 Nonsynonymous SNV T125I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 25.7 104702 chr16 839027 839027 C T rs2277902 CHTF18 Nonsynonymous SNV S63F 0.015 0.003 0.01 7 18 1 0.018 3 0 0 0 0 14.7 104703 chr13 39424317 39424317 G A rs747483917 FREM2 Nonsynonymous SNV M2174I 0.002 0 0 4 2 0 0.01 0 0 0 0 0 22.7 104704 chr13 39453073 39453073 G A rs763330245 FREM2 Nonsynonymous SNV G2989R 0.002 0 0 4 2 0 0.01 0 0 0 0 0 34 104705 chr12 54792481 54792481 C T rs370125974 ITGA5 Nonsynonymous SNV R948Q 0.003 0 0 0 4 0 0 0 0 0 0 0 19.35 104706 chr15 66853635 66853635 C T rs140843279 LCTL Nonsynonymous SNV G167S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 104707 chr15 90185609 90185609 T C rs147679100 KIF7 Nonsynonymous SNV Q740R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 26.3 104708 chr13 46801929 46801929 A C rs182670642 LRRC63 Nonsynonymous SNV K123T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.6 104709 chr14 33204942 33204942 A G rs144326498 AKAP6 Nonsynonymous SNV S1076G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 104710 chr14 36003590 36003590 C T INSM2 Synonymous SNV A44A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.08 104711 chr15 59064420 59064420 C T rs116990761 MINDY2 Nonsynonymous SNV L276F 0.007 0 0 2 8 0 0.005 0 0 0 0 0 21.6 104712 chr16 85952315 85952315 C T rs61995933 IRF8 Synonymous SNV F94F 0.008 0.005 0.007 5 9 2 0.013 2 0 0 0 0 Benign 13.7 104713 chr15 59500970 59500970 C T rs117265950 MYO1E Synonymous SNV T480T 0.018 0.016 0.01 8 21 6 0.021 3 0 0 0 0 12.05 104714 chr14 38724076 38724076 A T rs138633746 CLEC14A Synonymous SNV T384T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.65 104715 chr15 91419490 91419490 C T rs73489557 FURIN Synonymous SNV F61F 0.005 0.008 0 0 6 3 0 0 0 0 0 0 13.17 104716 chr15 90210179 90210179 C T rs776367759 PLIN1 Synonymous SNV V399V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.347 104717 chr13 67799672 67799686 GAGTTCCTGAATCAC - PCDH9 V963_L967del 0.001 0 0 0 1 0 0 0 0 0 0 0 104718 chr15 75890977 75890977 C T rs138384328 SNUPN Nonsynonymous SNV G269R 0.003 0 0 0 4 0 0 0 0 0 0 0 35 104719 chr16 88643624 88643624 C T rs537004552 ZC3H18 Synonymous SNV D31D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.45 104720 chr15 77064220 77064220 A G rs761356555 SCAPER Nonsynonymous SNV S125P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.79 104721 chr13 79190957 79190957 C T rs41288266 OBI1 Synonymous SNV A313A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.536 104722 chr15 78755332 78755332 A G IREB2 Nonsynonymous SNV K2E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 104723 chr15 85189578 85189578 A C rs201827208 WDR73 Nonsynonymous SNV D118E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 104724 chr16 10527398 10527398 G A rs746766010 ATF7IP2 Synonymous SNV K284K 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 11.44 104725 chr12 6639936 6639936 G C rs185696673 NCAPD2 Nonsynonymous SNV G1306A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.662 104726 chr12 6639958 6639958 G A rs748324154 NCAPD2 Synonymous SNV A1313A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 104727 chr15 92690379 92690379 A G rs141187463 SLCO3A1 Nonsynonymous SNV I560V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.35 104728 chr15 79237307 79237307 G T CTSH Nonsynonymous SNV P6Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 104729 chr13 99356606 99356606 A C rs150316772 SLC15A1 Synonymous SNV T451T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 104730 chr16 1129127 1129127 G A rs781439975 SSTR5 Nonsynonymous SNV V87I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 104731 chr14 56119586 56119586 A G rs372523337 KTN1 Synonymous SNV E874E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.49 104732 chr14 100069566 100069566 C G rs755491113 CCDC85C Nonsynonymous SNV R244P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.3 104733 chr14 57075855 57075855 G T rs61732702 TMEM260 Nonsynonymous SNV S223I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.713 104734 chr1 181151080 181151080 G C rs77975053 LINC01732 0 0 0.048 0 0 0 0 14 0 0 1 0 1.612 104735 chr15 82335932 82335932 A G rs56105962 MEX3B Synonymous SNV L427L 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 0.396 104736 chr15 82431145 82431145 C T rs72749527 EFL1 Nonsynonymous SNV V959I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Benign 24.6 104737 chr15 82444154 82444154 G T rs72749532 EFL1 Nonsynonymous SNV P830T 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Benign 26.6 104738 chr16 1254254 1254254 G A rs774505050 CACNA1H Synonymous SNV T749T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.926 104739 chr16 89574945 89574945 G A rs187330648 SPG7 Synonymous SNV G40G 0.022 0.013 0 9 26 5 0.023 0 3 0 0 0 Conflicting interpretations of pathogenicity 6.257 104740 chr1 183255908 183255908 T C rs41314643 NMNAT2 Nonsynonymous SNV I113V 0.018 0.021 0.02 0 21 8 0 6 0 0 0 0 23.3 104741 chr16 89871703 89871703 T G rs61757384 FANCA Synonymous SNV R200R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.388 104742 chr15 90144615 90144615 T C rs12905387 TICRR Nonsynonymous SNV V746A 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 25.6 104743 chr15 90167839 90167841 CTC - rs533002408 TICRR P1434del 0.002 0 0 0 2 0 0 0 0 0 0 0 104744 chr1 186275461 186275463 AAG - rs139300692 PRG4 K71del 0.009 0.016 0.017 0 10 6 0 5 0 0 0 0 104745 chr15 75500777 75500777 G A rs200565142 C15orf39 Synonymous SNV T796T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 5.693 104746 chr15 77057752 77057752 T C rs766013538 SCAPER Synonymous SNV V267V 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 5.521 104747 chr16 1271910 1271910 G T rs117001332 TPSG1 Nonsynonymous SNV L282I 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 Likely benign 8.94 104748 chr15 86266507 86266507 G A rs750905368 AKAP13 Nonsynonymous SNV R855H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 104749 chr14 65194368 65194368 C T PLEKHG3 Nonsynonymous SNV L7F 0.004 0 0 0 5 0 0 0 0 0 0 0 13.68 104750 chr16 1394491 1394491 G A rs114280977 BAIAP3 Nonsynonymous SNV D506N 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 22 104751 chr14 70038845 70038845 G A rs557180286 CCDC177 Nonsynonymous SNV R499W 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 0 26.2 104752 chr14 70252878 70252878 A G rs200153803 SLC10A1 Nonsynonymous SNV I168T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Uncertain significance 24.8 104753 chr17 1386314 1386314 C T rs112029113 MYO1C Synonymous SNV T129T 0.017 0.008 0.014 5 20 3 0.013 4 0 0 0 0 Likely benign 11.98 104754 chr16 19455535 19455535 T C rs958284440 TMC5 Synonymous SNV Y307Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 104755 chr16 1815986 1815986 C T rs200111591 MAPK8IP3 Synonymous SNV P817P 0.003 0.005 0.003 1 3 2 0.003 1 1 0 0 0 7.992 104756 chr16 15976805 15976805 C T rs62031723 FOPNL 0.002 0 0 0 2 0 0 0 1 0 0 0 4.44 104757 chr17 1538302 1538302 C A rs3760460 SCARF1 Nonsynonymous SNV G748V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.69 104758 chr15 91549269 91549269 G A rs570695901 VPS33B Synonymous SNV N264N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.321 104759 chr17 1551768 1551768 C A rs142401715 RILP Nonsynonymous SNV G233W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 104760 chr12 91572276 91572276 C T rs145597441 DCN Synonymous SNV P18P 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Likely benign 17.84 104761 chr17 1631368 1631368 G A rs369748157 WDR81 Nonsynonymous SNV A1039T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.057 104762 chr12 93873168 93873168 G A rs766814974 MRPL42 Nonsynonymous SNV V47I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 104763 chr16 2025080 2025080 G A rs147896871 TBL3 Nonsynonymous SNV D206N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.6 104764 chr12 94975529 94975529 G A rs375717870 TMCC3 Synonymous SNV A257A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 104765 chr16 2053063 2053063 C T rs759275384 ZNF598 Nonsynonymous SNV G132R 0.002 0.005 0 0 2 2 0 0 1 0 0 0 25.3 104766 chr12 96284661 96284661 C T rs761946685 CCDC38 Nonsynonymous SNV G274R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.024 104767 chr14 75746805 75746805 A G rs150427794 FOS Nonsynonymous SNV I123V 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Likely benign 10.77 104768 chr15 90764249 90764249 G C rs150569383 SEMA4B Nonsynonymous SNV R96T 0.002 0.01 0.003 5 2 4 0.013 1 0 0 0 0 0.006 104769 chr1 202955854 202955854 C T rs112080607 LOC100506747 0 0 0.017 0 0 0 0 5 0 0 0 0 5.251 104770 chr1 202956358 202956358 A G rs183742876 LOC100506747 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 104771 chr1 202956457 202956457 C A rs112796376 LOC100506747 0 0 0.017 0 0 0 0 5 0 0 0 0 8.517 104772 chr16 21147825 21147825 A T rs771532536 DNAH3 Nonsynonymous SNV Y236N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.7 104773 chr1 203455861 203455861 A G rs2233732 PRELP Nonsynonymous SNV N334S 0.009 0.005 0.014 2 10 2 0.005 4 0 0 0 0 0.005 104774 chr16 14341046 14341046 A G rs140598795 MRTFB Synonymous SNV S632S 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 Benign 0.007 104775 chr16 2096239 2096239 G A rs150766139 NTHL1 Stop gain Q82X 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 104776 chr16 22328486 22328486 C T rs143440180 POLR3E Nonsynonymous SNV T239M 0.013 0.016 0.01 8 15 6 0.021 3 0 0 0 0 34 104777 chr16 14648007 14648007 C T rs376352894 PARN Synonymous SNV L394L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.053 104778 chr1 203834214 203834214 A G SNRPE Nonsynonymous SNV I51V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.74 104779 chr14 80328277 80328277 G T rs758979325 NRXN3 Nonsynonymous SNV Q628H 0.004 0 0 3 5 0 0.008 0 0 0 0 0 19.77 104780 chr16 2264759 2264787 CCGGCCTCCGCCGCCGCCATCGCCGCCCG - PGP Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 104781 chr15 89835937 89835937 A G rs139814895 FANCI Nonsynonymous SNV I671V 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.58 104782 chr15 89838293 89838293 A C rs118031800 FANCI Nonsynonymous SNV E868D 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.036 104783 chr15 89867380 89867380 C T rs373550219 POLG Synonymous SNV A676A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.94 104784 chr15 89872249 89872249 C T rs61756401 POLG Synonymous SNV K316K 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign/Likely benign 14.57 104785 chr16 1035248 1035248 C T rs59101954 SOX8 Synonymous SNV G401G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.54 104786 chr16 24582540 24582540 A G rs1054024888 RBBP6 Nonsynonymous SNV I1351V 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 0.001 104787 chr1 205052775 205052775 G A rs74849110 TMEM81 Nonsynonymous SNV A225V 0.002 0 0.01 0 2 0 0 3 0 0 0 0 19.13 104788 chr16 16244463 16244463 G A rs72547524 ABCC6 Nonsynonymous SNV R1459C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 104789 chr16 25703974 25703974 C T rs764398116 HS3ST4 Nonsynonymous SNV P79L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 104790 chr14 91639653 91639653 C T rs147006834 DGLUCY Synonymous SNV T159T 0.003 0 0 0 3 0 0 0 0 0 0 0 15.16 104791 chr1 205589292 205589292 C A ELK4 Nonsynonymous SNV E294D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.17 104792 chr14 91739102 91739102 G C rs3814839 CCDC88C Nonsynonymous SNV S1985C 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 15.3 104793 chr14 91755563 91755563 C T rs189215037 CCDC88C Nonsynonymous SNV A1443T 0.01 0.005 0.01 9 12 2 0.023 3 0 0 0 0 Likely benign 9.216 104794 chr14 92460227 92460227 C T rs80200454 TRIP11 Nonsynonymous SNV E1695K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 24 104795 chr14 92472416 92472416 G C rs59635749 TRIP11 Nonsynonymous SNV S634C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 22.4 104796 chr14 92488050 92488050 G A rs371786500 TRIP11 Synonymous SNV F145F 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 7.685 104797 chr14 92537379 92537379 - GCTGCTGCTGCTGC rs760924707 ATXN3 Frameshift insertion T15Afs*70 0.005 0.005 0 0 6 2 0 0 0 0 0 0 104798 chr16 29790934 29790934 G A rs564879458 ZG16 Nonsynonymous SNV R55Q 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 26 104799 chr1 208270093 208270093 C T rs150558490 PLXNA2 Nonsynonymous SNV V623I 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Likely benign 21.5 104800 chr16 1389577 1389577 G C rs1030499988 BAIAP3 Nonsynonymous SNV E127D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 104801 chr16 2028156 2028156 G A rs79412280 TBL3 Nonsynonymous SNV R690Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 15 104802 chr1 20975168 20975168 C T rs71653623 PINK1-AS 0.012 0.013 0.02 8 14 5 0.021 6 1 0 0 0 4.101 104803 chr16 29896915 29896915 C T rs139712746 SEZ6L2 Nonsynonymous SNV R341Q 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 35 104804 chr16 28137134 28137134 G A rs763779312 XPO6 Nonsynonymous SNV R548W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 104805 chr16 334531 334531 C T rs182349041 PDIA2 Nonsynonymous SNV T115M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.5 104806 chr16 15128171 15128171 G A rs372719907 PDXDC1 Nonsynonymous SNV R587Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 29.5 104807 chr16 1004449 1004449 C T rs117150036 LMF1 Synonymous SNV S28S 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 13.15 104808 chr16 1035245 1035245 C T rs112081163 SOX8 Synonymous SNV P400P 0.01 0.003 0.003 2 12 1 0.005 1 0 0 0 0 7.726 104809 chr16 28997874 28997874 G A rs530922450 LAT Synonymous SNV A108A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.882 104810 chr17 27381595 27381595 G A rs759085062 PIPOX Synonymous SNV E231E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.557 104811 chr14 95905951 95905951 C A rs148434135 SYNE3 Synonymous SNV L748L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.081 104812 chr1 214556810 214556810 C T rs114986084 PTPN14 Synonymous SNV P796P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.115 104813 chr16 29910296 29910296 C T rs574623238 SEZ6L2 Synonymous SNV L15L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.33 104814 chr1 215847979 215847979 G A rs201238640 USH2A Nonsynonymous SNV T4425M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 104815 chr14 31776065 31776065 C T rs528220201 HEATR5A Synonymous SNV L1613L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.547 104816 chr16 23464230 23464230 G A rs146918812 COG7 Nonsynonymous SNV A29V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.6 104817 chr16 30365112 30365112 G A rs145505967 CD2BP2 Nonsynonymous SNV R129W 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 26 104818 chr16 11272474 11272474 C T rs200568391 CLEC16A Nonsynonymous SNV P1030L 0.003 0 0.007 0 4 0 0 2 0 0 0 0 13.66 104819 chr17 30325729 30325729 T C SUZ12 Nonsynonymous SNV Y620H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.53 104820 chr16 31383038 31383038 G A rs202224634 ITGAX Nonsynonymous SNV R698Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 6.455 104821 chr16 30521682 30521682 C T rs138016221 ITGAL Nonsynonymous SNV P753S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.68 104822 chr15 100252742 100252744 GCC - rs759657998 MEF2A P357del 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 104823 chr16 2374426 2374426 G C ABCA3 Nonsynonymous SNV S142R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 104824 chr1 216270469 216270469 G A rs111033333 USH2A Nonsynonymous SNV L1572F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 104825 chr16 3063681 3063681 G A rs139700351 CLDN9 Synonymous SNV T106T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.289 104826 chr16 4630089 4630089 C T rs558737573 C16orf96 Nonsynonymous SNV A772V 0.005 0 0 5 6 0 0.013 0 0 0 0 0 23 104827 chr1 216420437 216420437 C - rs80338903 USH2A E767Sfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 104828 chr13 21736016 21736016 - TTTATTATTCCTC SKA3 0.004 0.003 0 0 5 1 0 0 0 0 0 0 104829 chr16 3254970 3254970 G C rs201430830 OR1F1 Nonsynonymous SNV G242R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 104830 chr16 25703760 25703765 CCTCCG - rs779793937 HS3ST4 P15_P16del 0.003 0 0.007 0 3 0 0 2 0 0 0 0 104831 chr1 221509448 221509448 T C C1orf140 0 0 0.003 0 0 0 0 1 0 0 0 0 4.503 104832 chr1 221509449 221509449 A T C1orf140 0 0 0.003 0 0 0 0 1 0 0 0 0 4.491 104833 chr16 3191132 3191132 G T rs150219616 ZNF213 Synonymous SNV L388L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.161 104834 chr16 28890367 28890367 G A rs748814656 ATP2A1-AS1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.21 104835 chr13 25743748 25743748 C G rs142095746 AMER2 Nonsynonymous SNV K670N 0.026 0.008 0.02 9 31 3 0.023 6 0 0 0 0 26 104836 chr16 335158 335158 G A rs749704202 PDIA2 Synonymous SNV L251L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.245 104837 chr16 29824727 29824727 G A rs201636905 PRRT2 Nonsynonymous SNV A118T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.948 104838 chr16 426236 426236 G A rs141404417 PGAP6 Nonsynonymous SNV S375L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.008 104839 chr13 28599077 28599077 C G rs148592477 FLT3 Nonsynonymous SNV M737I 0.003 0 0 0 3 0 0 0 1 0 0 0 not provided 13.94 104840 chr16 20638592 20638592 T C rs148084363 ACSM1 Nonsynonymous SNV N449S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 104841 chr1 223285381 223285381 T C TLR5 Synonymous SNV A331A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.303 104842 chr1 224380066 224380066 C T DEGS1 Synonymous SNV N250N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 104843 chr16 30776504 30776504 C T rs773215088 RNF40 Synonymous SNV Y258Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.858 104844 chr16 2112558 2112558 G A rs45484298 TSC2 Nonsynonymous SNV G240S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 104845 chr16 3554799 3554799 T C rs34672214 CLUAP1 Synonymous SNV L34L 0.015 0.013 0.02 4 18 5 0.01 6 0 0 0 0 3.004 104846 chr15 31294996 31294996 C T rs117855013 TRPM1 Nonsynonymous SNV E1320K 0.007 0.003 0 5 8 1 0.013 0 0 0 0 0 Benign 32 104847 chr16 46956314 46956314 G C rs140225037 GPT2 Nonsynonymous SNV E300Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Likely benign 20.4 104848 chr16 16142079 16142079 G T rs60782127 ABCC1 Nonsynonymous SNV R433S 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 104849 chr13 33012814 33012814 T C rs762826816 N4BP2L2 Nonsynonymous SNV Y722C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 104850 chr16 56701895 56701895 T C rs201188585 MT1G Nonsynonymous SNV N4S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 104851 chr14 55455876 55455876 T C rs141140861 WDHD1 Nonsynonymous SNV I343V 0.006 0.01 0 0 7 4 0 0 0 0 0 0 22.2 104852 chr16 56913000 56913000 G A rs13306668 SLC12A3 Nonsynonymous SNV R399H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 104853 chr1 227268626 227268626 A C CDC42BPA Nonsynonymous SNV H735Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 104854 chr16 332083 332083 G A rs144552315 ARHGDIG Synonymous SNV P104P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 5.797 104855 chr14 58895046 58895046 C T rs202124602 KIAA0586 Nonsynonymous SNV R22C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 104856 chr16 27492502 27492502 T C rs773664264 GTF3C1 Nonsynonymous SNV N1365S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 104857 chr16 2821590 2821590 G A rs756792853 ELOB Synonymous SNV S123S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.919 104858 chr13 41656909 41656909 C T rs144239832 WBP4 Synonymous SNV G330G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.78 104859 chr15 40573767 40573767 C T rs573538746 ANKRD63 Nonsynonymous SNV G341R 0.008 0 0 0 9 0 0 0 0 0 0 0 29.7 104860 chr16 29856037 29856037 C T rs201685626 MVP Nonsynonymous SNV P554S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 104861 chr1 22927816 22927816 G A rs141279306 EPHA8 Nonsynonymous SNV R918Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 104862 chr15 41192839 41192839 G A rs34865655 VPS18 Nonsynonymous SNV R608H 0.009 0.005 0 0 10 2 0 0 0 0 0 0 Likely benign 23.2 104863 chr16 66575821 66575821 C T rs373843440 TK2 Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 104864 chr1 229665958 229665958 C T rs35698797 ABCB10 Nonsynonymous SNV D545N 0.014 0.021 0.027 9 17 8 0.023 8 0 0 0 0 25.6 104865 chr14 64066451 64066451 A G rs779248521 WDR89 Synonymous SNV P70P 0.009 0.016 0 3 10 6 0.008 0 0 0 0 0 0.377 104866 chr14 64066453 64066453 G A rs74383752 WDR89 Nonsynonymous SNV P70S 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 10.08 104867 chr14 64066471 64066471 G A rs200681506 WDR89 Stop gain R64X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 104868 chr14 64066472 64066472 T G rs774708081 WDR89 Synonymous SNV L63L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.329 104869 chr16 67380202 67380202 A G rs147306022 LRRC36 Nonsynonymous SNV Y81C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 104870 chr16 216593 216593 T C rs141494605 HBM Synonymous SNV C104C 0.02 0.018 0.017 6 23 7 0.015 5 0 0 0 0 0.003 104871 chr16 67576670 67576672 ACC - rs757370282 RIPOR1 T666del 0.003 0 0 0 3 0 0 0 0 0 0 0 104872 chr15 42149685 42149685 C T rs191576229 SPTBN5 Nonsynonymous SNV R2791H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.42 104873 chr16 67761753 67761753 G A RANBP10 Synonymous SNV A420A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 104874 chr16 683773 683773 G A rs978169443 WFIKKN1 Nonsynonymous SNV A455T 0.004 0 0 0 5 0 0 0 0 0 0 0 25.3 104875 chr15 42568562 42568562 G A rs757107593 GANC Nonsynonymous SNV V16I 0.003 0 0 0 4 0 0 0 0 0 0 0 24.4 104876 chr16 56403166 56403166 G A AMFR Nonsynonymous SNV S485L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 104877 chr15 42982260 42982260 A G rs766636648 STARD9 Synonymous SNV S2828S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.436 104878 chr16 66599890 66599890 G A rs2232729 CKLF Synonymous SNV V60V 0.008 0.013 0.01 2 9 5 0.005 3 0 0 0 0 Benign 2.944 104879 chr15 42985412 42985412 A T STARD9 Nonsynonymous SNV D3879V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.95 104880 chr16 70499046 70499046 C T rs371810233 FCSK Synonymous SNV V84V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 104881 chr16 67220479 67220479 G A rs75613564 EXOC3L1 Synonymous SNV L456L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 2.466 104882 chr16 67645394 67645394 A G CTCF Nonsynonymous SNV D220G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 104883 chr16 67700924 67700924 C T rs149466347 C16orf86 Synonymous SNV V17V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 13.96 104884 chr1 240635747 240635747 T G rs143796494 FMN2 Synonymous SNV S988S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 10.55 104885 chr16 70588992 70588992 G A rs142026362 SF3B3 Synonymous SNV K531K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 104886 chr14 69989047 69989047 C T rs368733167 PLEKHD1 Synonymous SNV F201F 0.002 0 0 0 2 0 0 0 0 0 0 0 17.58 104887 chr1 24194770 24194770 C G rs61996282 FUCA1 Nonsynonymous SNV A3P 0.003 0.008 0.017 4 3 3 0.01 5 0 0 0 0 Benign/Likely benign 17.53 104888 chr16 68380071 68380071 G A rs145640515 PRMT7 Nonsynonymous SNV R310H 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 0.036 104889 chr16 57601402 57601402 C T rs775432731 ADGRG5 Synonymous SNV V240V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.07 104890 chr16 28112962 28112962 G A rs376443484 XPO6 Synonymous SNV L1031L 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 8.573 104891 chr14 73406582 73406582 T G rs61746594 DCAF4 Nonsynonymous SNV L44R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.069 104892 chr15 48470403 48470403 C T rs201433345 MYEF2 Nonsynonymous SNV G11E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.17 104893 chr16 69173747 69173747 C T rs770986494 UTP4 Synonymous SNV S69S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.51 104894 chr14 73425364 73425364 C T rs35481507 DCAF4 Nonsynonymous SNV R387C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 104895 chr14 73673178 73673178 A G rs17125721 PSEN1 Nonsynonymous SNV E318G 0.011 0.016 0.01 9 13 6 0.023 3 0 0 0 0 Benign/Likely benign 16.92 104896 chr16 58542892 58542892 G A rs200438297 NDRG4 Synonymous SNV P270P 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 9.58 104897 chr14 100141863 100141863 G A HHIPL1 Nonsynonymous SNV R750Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.808 104898 chr15 51773327 51773327 A T rs148062616 DMXL2 Nonsynonymous SNV D1356E 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 7.674 104899 chr16 4924603 4924603 C G rs758441273 UBN1 Nonsynonymous SNV S731C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 104900 chr16 4934500 4934500 G A rs147165866 PPL Nonsynonymous SNV R1386W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 104901 chr16 66436983 66436983 G A CDH5 Nonsynonymous SNV D756N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 104902 chr15 51988123 51988123 T C rs148842206 SCG3 Nonsynonymous SNV I75T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.4 104903 chr16 30793576 30793576 G C rs370428144 ZNF629 Synonymous SNV L691L 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 0.137 104904 chr16 50745012 50745012 C T rs150078153 NOD2 Nonsynonymous SNV P370L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 104905 chr16 75467219 75467219 G A rs199510022 CFDP1 Nonsynonymous SNV T11M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 104906 chr16 3293369 3293369 C T rs2234939 MEFV Synonymous SNV P706P 0.007 0.01 0.01 4 8 4 0.01 3 0 0 0 0 Benign/Likely benign 6.617 104907 chr16 74695180 74695180 A C rs759144486 RFWD3 Synonymous SNV A56A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.081 104908 chr16 3706649 3706649 G A rs143058517 DNASE1 Nonsynonymous SNV V111M 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 26.3 104909 chr16 69681370 69681370 A G rs143392508 NFAT5 Synonymous SNV K213K 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 0.456 104910 chr14 105407906 105407906 A G rs200269752 AHNAK2 Nonsynonymous SNV F4528L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.241 104911 chr16 84208294 84208294 A T rs145973397 DNAAF1 Nonsynonymous SNV D319V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 104912 chr16 70187348 70187348 C T rs771120314 PDPR Nonsynonymous SNV R603W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 104913 chr16 70285473 70285473 G T EXOSC6 Nonsynonymous SNV R111S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 104914 chr14 81956801 81956801 C T rs61761862 SEL1L Synonymous SNV S421S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.72 104915 chr14 81994070 81994070 C T rs114866215 SEL1L Nonsynonymous SNV S28N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.227 104916 chr17 45384877 45384877 A C ITGB3 Synonymous SNV S725S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.034 104917 chr16 70843712 70843712 G A rs79607350 HYDIN Nonsynonymous SNV R4953W 0.008 0.008 0 5 9 3 0.013 0 0 0 0 1 Conflicting interpretations of pathogenicity 35 104918 chr15 65489880 65489880 T G rs34908405 CILP Nonsynonymous SNV Y915S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 22.5 104919 chr16 84520450 84520450 G C rs148673734 MEAK7 Nonsynonymous SNV L249V 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 4.3 104920 chr1 24979487 24979487 C T rs144082896 SRRM1 Nonsynonymous SNV P252L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.3 104921 chr14 92076825 92076825 G C rs149037988 CATSPERB Nonsynonymous SNV P866R 0.003 0.003 0.024 0 4 1 0 7 0 0 1 0 29.4 104922 chr16 86588301 86588301 T G rs201272636 MTHFSD Nonsynonymous SNV N25H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 104923 chr15 67709344 67709344 C T rs142100170 IQCH Nonsynonymous SNV R318W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.4 104924 chr14 20925655 20925655 C T rs61752835 APEX1 Synonymous SNV Y315Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 1.269 104925 chr16 72821643 72821645 CCG - rs772786564 ZFHX3 G2598del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 104926 chr16 4952455 4952455 C T rs755556045 PPL Synonymous SNV K130K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.04 104927 chr14 92465749 92465749 C T rs35007347 TRIP11 Nonsynonymous SNV R1575H 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 104928 chr16 72923700 72923700 C T rs141261851 ZFHX3 Synonymous SNV K212K 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 15.44 104929 chr16 72992910 72992910 G C rs147445846 ZFHX3 Nonsynonymous SNV L379V 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 15.64 104930 chr16 684777 684777 C T rs147359915 METTL26 Nonsynonymous SNV R73Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.21 104931 chr16 731512 731512 A C rs146251364 STUB1 Nonsynonymous SNV K73Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 11.43 104932 chr16 50744742 50744742 C T rs191901394 NOD2 Nonsynonymous SNV T280M 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.2 104933 chr14 93673238 93673238 C G rs771354582 GON7 Nonsynonymous SNV D49H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.91 104934 chr17 47921451 47921451 A G rs550066636 TAC4 Synonymous SNV F58F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.466 104935 chr17 4798395 4798395 G C MINK1 Synonymous SNV R944R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.461 104936 chr15 72023502 72023502 G A rs138125166 THSD4 Nonsynonymous SNV V166M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.1 104937 chr16 7629841 7629841 A G rs140174146 RBFOX1 Synonymous SNV E131E 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 Benign 7.791 104938 chr16 84351952 84351952 G A rs11643870 WFDC1 Nonsynonymous SNV V138M 0.012 0.013 0.014 6 14 5 0.015 4 0 0 0 0 Benign 23.9 104939 chr17 48277235 48277235 C A rs1057297 COL1A1 Synonymous SNV R59R 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Benign 22 104940 chr16 81222533 81222533 A T PKD1L2 Nonsynonymous SNV L581Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 104941 chr15 74043445 74043445 G A rs139876261 INSYN1 Synonymous SNV L9L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.13 104942 chr1 29520654 29520654 G T rs140504683 MECR Synonymous SNV L258L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.92 104943 chr1 31423103 31423103 G A rs150516130 PUM1 Synonymous SNV G909G 0.008 0.008 0.014 1 9 3 0.003 4 0 0 0 0 Benign 11.91 104944 chr16 82124518 82124518 A G rs117437228 HSD17B2 Nonsynonymous SNV M226V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 0.228 104945 chr17 48650063 48650063 G A rs201875227 CACNA1G Nonsynonymous SNV G299S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 3.725 104946 chr17 48703688 48703688 C A rs200141555 CACNA1G Nonsynonymous SNV P2110H 0.004 0.003 0.017 3 5 1 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 104947 chr14 23612372 23612372 T G SLC7A8 Nonsynonymous SNV T79P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.7 104948 chr17 49297796 49297796 G A rs61740918 MBTD1 Synonymous SNV G61G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.97 104949 chr16 88884484 88884484 G C rs73251084 GALNS Synonymous SNV V286V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.222 104950 chr16 74908168 74908168 C T rs201697023 WDR59 Nonsynonymous SNV R955Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 104951 chr16 81737546 81737546 C T rs781781212 CMIP Synonymous SNV D555D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 104952 chr16 75033749 75033749 C G rs369609063 ZNRF1 Nonsynonymous SNV D60E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.01 104953 chr16 84442095 84442095 G A rs78371901 ATP2C2 Nonsynonymous SNV A138T 0.006 0.013 0.007 1 7 5 0.003 2 0 0 0 0 Benign 4.284 104954 chr16 624075 624075 A G rs759893684 PIGQ Star tloss M1? 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 104955 chr1 35442461 35442461 C A rs78431129 LOC653160 0 0 0.027 0 0 0 0 8 0 0 0 0 15.82 104956 chr14 24563626 24563626 G C PCK2 Nonsynonymous SNV L4F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24.1 104957 chr16 632905 632905 G A rs201105616 PIGQ Nonsynonymous SNV R539H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.76 104958 chr14 24631440 24631440 C T rs145197850 IRF9 Synonymous SNV C29C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 14.09 104959 chr14 24731434 24731434 G T rs41295338 TGM1 Nonsynonymous SNV S42Y 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 104960 chr16 8952274 8952274 G A rs776082130 CARHSP1 Nonsynonymous SNV R72W 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 34 104961 chr16 77401359 77401359 A C rs751091608 ADAMTS18 Nonsynonymous SNV I79M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 104962 chr16 89663026 89663026 G A rs148081727 CPNE7 Synonymous SNV P558P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 1.33 104963 chr1 37267462 37267462 A T GRIK3 Nonsynonymous SNV V917E 0 0 0.003 0 0 0 0 1 0 0 0 0 23 104964 chr16 77401479 77401479 G A rs35701343 ADAMTS18 Nonsynonymous SNV R213W 0.008 0.013 0.003 2 9 5 0.005 1 1 0 0 0 Benign 23 104965 chr1 37948449 37948449 C A rs143237728 ZC3H12A Nonsynonymous SNV P346H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.3 104966 chr15 102226239 102226239 C T rs764402891 TARS3 Synonymous SNV T449T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.78 104967 chr16 85699705 85699705 C T rs758342626 GSE1 Nonsynonymous SNV S857L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 104968 chr16 90037961 90037961 G A CENPBD1 Nonsynonymous SNV R124C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 104969 chr17 10212707 10212707 G C rs201795570 MYH13 Synonymous SNV L1671L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.915 104970 chr16 88783583 88783585 TCT - rs763477215 PIEZO1 K2169del 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 104971 chr16 88786314 88786314 G A rs61745850 PIEZO1 Synonymous SNV Y2073Y 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 14.58 104972 chr1 39851576 39851576 T A rs143338205 MACF1 Synonymous SNV P2711P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.972 104973 chr17 10409238 10409238 C A rs752192495 MYH1 Stop gain E689X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 104974 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGG MYH3 Stop gain G203Pfs*15 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 104975 chr1 40525111 40525111 T C rs35336518 CAP1 Synonymous SNV Y31Y 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 1.38 104976 chr16 815549 815549 T C rs75279195 MSLN Nonsynonymous SNV S243P 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 22.1 104977 chr16 815565 815565 T C rs77260498 MSLN Nonsynonymous SNV L248P 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 23.3 104978 chr16 816072 816072 T C rs3765320 MSLN Synonymous SNV P303P 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 0.004 104979 chr16 69143880 69143880 C T rs200119038 HAS3 Synonymous SNV R194R 0.003 0 0 0 3 0 0 0 0 0 0 0 17.54 104980 chr15 30024840 30024840 C T rs774402234 TJP1 Nonsynonymous SNV R639Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 104981 chr16 818555 818555 C T rs2272905 MSLN Synonymous SNV L599L 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 5.652 104982 chr16 81942032 81942032 T A rs199708049 PLCG2 Synonymous SNV P523P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign/Likely benign 0.129 104983 chr16 69832622 69832622 T G rs112425716 WWP2 Synonymous SNV P36P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.61 104984 chr1 41481544 41481544 C G rs1129661 SLFNL1-AS1 0 0 0.024 0 0 0 0 7 0 0 2 0 1.03 104985 chr17 57158552 57158552 G A rs61758100 TRIM37 Nonsynonymous SNV A99V 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 Benign/Likely benign 23.1 104986 chr16 88505616 88505616 G C ZNF469 Nonsynonymous SNV G3913A 0.003 0 0 0 4 0 0 0 0 0 0 0 22.6 104987 chr16 88600917 88600917 C T ZFPM1 Synonymous SNV L851L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.78 104988 chr14 42356269 42356269 C T rs117966123 LRFN5 Synonymous SNV F147F 0.015 0.023 0 6 18 9 0.015 0 0 0 0 0 10.27 104989 chr16 85697019 85697019 C T rs199857927 GSE1 Nonsynonymous SNV R711W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 104990 chr17 1540133 1540133 C T rs772375405 SCARF1 Synonymous SNV P501P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 104991 chr14 45665669 45665669 A G rs757161412 FANCM Nonsynonymous SNV K1853E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 104992 chr1 43352494 43352494 - G rs34181875 LOC339539 0 0 0.071 0 0 0 0 21 0 0 2 0 104993 chr1 43818329 43818329 C T rs143457144 MPL Synonymous SNV C598C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.9 104994 chr17 61574642 61574642 G A rs4980 ACE Nonsynonymous SNV R664Q 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 Benign/Likely benign 24.6 104995 chr16 89702713 89702713 C T rs141650009 DPEP1 Synonymous SNV D93D 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 13.71 104996 chr16 72830425 72830425 C T rs148383343 ZFHX3 Synonymous SNV P1138P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.579 104997 chr16 919894 919894 C T rs181731943 LMF1 Nonsynonymous SNV A360T 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 29.7 104998 chr1 45973216 45973216 - A rs398124292 MMACHC Frameshift insertion R34Kfs*14 0.005 0.005 0.017 0 6 2 0 5 0 0 0 0 104999 chr16 84473044 84473044 G A rs202026876 ATP2C2 Nonsynonymous SNV V224I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.1 105000 chr1 46497189 46497189 C G MAST2 Nonsynonymous SNV T1040S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.624 105001 chr17 1687707 1687707 C T rs113019014 SMYD4 Nonsynonymous SNV V645I 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 4.979 105002 chr15 40616445 40616445 G A rs990160986 INAFM2 Synonymous SNV P63P 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 13.03 105003 chr16 845173 845173 C T rs199857763 CHTF18 Synonymous SNV S664S 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 9.827 105004 chr1 47033885 47033885 A G rs541242288 MKNK1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.512 105005 chr1 48877216 48877216 T C rs200542238 SPATA6 Nonsynonymous SNV M95V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.1 105006 chr14 53119014 53119014 C T rs141179949 ERO1A Synonymous SNV L356L 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 14.94 105007 chr1 54483071 54483071 G T rs761106479 LDLRAD1 Synonymous SNV S17S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.567 105008 chr15 41866015 41866015 - ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC TYRO3 0.012 0.021 0 9 14 8 0.023 0 0 0 0 0 105009 chr15 90931581 90931581 C T rs757613212 IQGAP1 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 105010 chr15 91474631 91474631 C T rs117318472 HDDC3 Stop gain W138X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 20.6 105011 chr17 1003916 1003916 G A rs547338113 ABR Synonymous SNV S65S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 105012 chr17 10216635 10216635 G A rs201735784 MYH13 Nonsynonymous SNV R1341C 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 35 105013 chr14 58920071 58920071 A G KIAA0586 Nonsynonymous SNV N238S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.168 105014 chr17 1611457 1611457 C G TLCD2 Synonymous SNV V134V 0.006 0.008 0 12 7 3 0.031 0 0 0 0 0 5.907 105015 chr16 89245955 89245955 C T rs2287358 CDH15 Synonymous SNV H58H 0.007 0.003 0.024 2 8 1 0.005 7 0 0 0 0 Likely benign 12.67 105016 chr17 10312480 10312480 A G rs148707844 MYH8 Synonymous SNV D633D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.023 105017 chr16 89265095 89265095 C T rs4785728 SLC22A31 Nonsynonymous SNV G170E 0.007 0.003 0.024 2 8 1 0.005 7 0 0 0 0 0.1 105018 chr16 89265101 89265101 C A rs74640353 SLC22A31 Nonsynonymous SNV G168V 0.009 0.01 0.014 2 11 4 0.005 4 0 0 0 0 5.157 105019 chr17 1675239 1675239 C A rs751406971 SERPINF1 Synonymous SNV G171G 0.003 0.003 0 0 3 1 0 0 1 0 0 0 12.77 105020 chr16 89293730 89293730 C T rs72819401 ZNF778 Nonsynonymous SNV A317V 0.007 0.003 0.02 2 8 1 0.005 6 0 0 0 0 17.66 105021 chr16 81960772 81960772 C A rs186829827 PLCG2 Nonsynonymous SNV L835I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.37 105022 chr1 57333311 57333311 C A rs116201358 C8A Nonsynonymous SNV A36E 0.006 0.003 0.007 1 7 1 0.003 2 1 0 0 0 26.1 105023 chr1 57347244 57347244 C G rs116129675 C8A Synonymous SNV L197L 0.006 0.003 0.007 1 7 1 0.003 2 1 0 0 0 5.301 105024 chr16 89294827 89294827 A G rs55974122 ZNF778 Nonsynonymous SNV N683D 0.007 0.003 0.02 2 8 1 0.005 6 0 0 0 0 10.16 105025 chr1 57411525 57411525 G A rs149848224 C8B Synonymous SNV L358L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign 12.99 105026 chr17 11502021 11502021 G A DNAH9 Nonsynonymous SNV R69Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 105027 chr17 21318747 21318747 C T rs782808547 KCNJ12, KCNJ18 Synonymous SNV F31F 0.003 0 0 0 3 0 0 0 0 0 0 0 12.12 105028 chr16 89789916 89789916 C G rs142120600 ZNF276 Nonsynonymous SNV P269A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.509 105029 chr17 1410318 1410318 C G rs61733756 INPP5K Synonymous SNV P244P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 14.54 105030 chr17 71253858 71253858 A G CPSF4L Nonsynonymous SNV L90P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.04 105031 chr17 1629732 1629732 G A rs756295480 WDR81 Synonymous SNV P493P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.008 105032 chr17 21319129 21319129 G A rs139984724 KCNJ12, KCNJ18 Nonsynonymous SNV V159I 0.002 0 0 0 2 0 0 0 0 0 0 0 12 105033 chr1 6305321 6305321 C T rs180888799 HES3 Synonymous SNV D105D 0.018 0.01 0.014 5 21 4 0.013 4 1 0 0 0 12.21 105034 chr1 63113879 63113879 T C rs1051431504 DOCK7 Synonymous SNV L210L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.338 105035 chr17 19835154 19835154 C T AKAP10 Synonymous SNV E535E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.085 105036 chr15 43815324 43815324 C A MAP1A Nonsynonymous SNV D551E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 105037 chr1 64605879 64605879 C A rs755218833 ROR1 Nonsynonymous SNV P233Q 0 0 0.007 0 0 0 0 2 0 0 0 0 32 105038 chr14 65239544 65239544 G A rs755502079 SPTB Synonymous SNV A1769A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.129 105039 chr17 7228978 7228978 T C rs781613591 NEURL4 Nonsynonymous SNV I450V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 105040 chr15 43819450 43819450 A G rs147141458 MAP1A Nonsynonymous SNV K1927E 0.009 0.008 0.027 6 10 3 0.015 8 0 0 0 0 0.09 105041 chr17 21207792 21207792 A T rs138917253 MAP2K3 Nonsynonymous SNV D179V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Likely benign 28.5 105042 chr17 263585 263585 T C rs149667691 C17orf97 Synonymous SNV T317T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.194 105043 chr14 68252852 68252852 A T rs112787369 ZFYVE26 Nonsynonymous SNV S1040T 0.02 0.029 0.024 6 24 11 0.015 7 0 0 0 0 Benign/Likely benign 0.007 105044 chr1 67685357 67685357 G T rs755811354 IL23R Nonsynonymous SNV G300V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 105045 chr16 15132445 15132445 T C rs200531224 NTAN1 Nonsynonymous SNV K142E 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 9.412 105046 chr16 919937 919937 G A rs116726395 LMF1 Synonymous SNV L345L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.267 105047 chr17 19578921 19578921 G A rs138462610 ALDH3A2 Nonsynonymous SNV E420K 0.012 0.023 0.017 4 14 9 0.01 5 0 0 0 0 Benign 15.44 105048 chr14 72818803 72818803 A C RGS6 Nonsynonymous SNV I29L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 105049 chr15 48057092 48057092 G A rs746940650 SEMA6D Synonymous SNV T422T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.92 105050 chr17 16329536 16329536 G C TRPV2 Nonsynonymous SNV E350Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 105051 chr15 50906036 50906036 C T TRPM7 Synonymous SNV R546R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.83 105052 chr17 12642609 12642609 C T rs141767130 MYOCD Synonymous SNV P227P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.24 105053 chr16 2028184 2028184 G A TBL3 Synonymous SNV L699L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.725 105054 chr17 14110332 14110332 A G rs528738530 COX10 Synonymous SNV T378T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 105055 chr17 18205933 18205933 C T rs117856165 TOP3A Nonsynonymous SNV D107N 0.007 0 0 4 8 0 0.01 0 0 0 0 0 Likely benign 24.8 105056 chr14 76633078 76633078 C T rs117607472 GPATCH2L Synonymous SNV V245V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.594 105057 chr15 57730521 57730521 C T rs150676873 CGNL1 Synonymous SNV Y108Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.858 105058 chr16 89760601 89760603 TGT - CDK10 L140del 0.003 0 0 0 3 0 0 0 0 0 0 0 105059 chr17 30804574 30804574 G A rs34248115 PSMD11 Synonymous SNV K295K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.15 105060 chr17 2202949 2202949 C T rs138722546 SMG6 Synonymous SNV V366V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 0.025 105061 chr17 19607396 19607396 G T SLC47A2 Synonymous SNV G335G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.181 105062 chr17 2238686 2238686 C T rs148773339 TSR1 Nonsynonymous SNV D142N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.38 105063 chr16 2147214 2147214 G A rs373880615 PKD1 Synonymous SNV A3477A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.354 105064 chr14 77935457 77935457 G A AHSA1 Synonymous SNV K159K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 105065 chr16 22144257 22144257 G A rs200694202 VWA3A Nonsynonymous SNV G637S 0.005 0.01 0 5 6 4 0.013 0 0 0 0 1 26 105066 chr17 26125743 26125743 G A rs3730014 NOS2 Synonymous SNV A31A 0.02 0.029 0.024 10 24 11 0.026 7 0 0 0 1 0.783 105067 chr17 10351172 10351172 G A rs753318940 MYH4 Nonsynonymous SNV A1643V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.1 105068 chr17 3336703 3336703 T C rs143399204 OR1E2 Nonsynonymous SNV M145V 0.003 0.005 0.01 1 4 2 0.003 3 1 0 0 0 14.34 105069 chr15 63855190 63855190 G A rs61751106 USP3 Synonymous SNV K204K 0.005 0.008 0.02 6 6 3 0.015 6 0 0 0 0 13.86 105070 chr16 2329021 2329021 G T rs748285120 ABCA3 Nonsynonymous SNV H1490Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.27 105071 chr15 65113687 65113687 A G rs118062397 PIF1 Nonsynonymous SNV C284R 0.006 0.008 0.02 3 7 3 0.008 6 0 0 0 0 26.4 105072 chr17 17700659 17700659 G A rs369962661 RAI1 Nonsynonymous SNV R1466Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.53 105073 chr16 2523933 2523933 C A rs569502071 NTN3 Nonsynonymous SNV R524S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 11.83 105074 chr15 65622990 65622990 C T rs573108336 IGDCC3 Nonsynonymous SNV E551K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 105075 chr14 91760660 91760660 C T rs8017119 CCDC88C Synonymous SNV L1323L 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 14.64 105076 chr17 29185322 29185322 C T rs140973444 ATAD5 Synonymous SNV S979S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.9 105077 chr17 36478478 36478478 A C rs200734868 MRPL45 X257C 0.008 0 0 2 9 0 0.005 0 0 0 0 0 10.75 105078 chr14 92488135 92488135 T C rs748088907 TRIP11 Nonsynonymous SNV Q117R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 105079 chr17 7750214 7750214 - CCACCG rs754571535 KDM6B P264_L265insPP 0.001 0 0 0 1 0 0 0 0 0 0 0 105080 chr17 1552164 1552164 C T rs548272217 RILP Nonsynonymous SNV G202R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.96 105081 chr17 36493518 36493518 C A rs372908857 GPR179 Nonsynonymous SNV G330V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 12.17 105082 chr1 95007191 95007191 A G F3 Star tloss M1T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 105083 chr17 33267624 33267624 G A rs767958063 CCT6B Nonsynonymous SNV S264F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.7 105084 chr17 37646823 37646823 C T rs370768796 CDK12 Nonsynonymous SNV L649F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 105085 chr16 30034986 30034986 G A rs79063905 C16orf92 Synonymous SNV P23P 0.012 0.01 0 1 14 4 0.003 0 1 0 0 0 3.518 105086 chr16 30365335 30365335 T A rs139111996 CD2BP2 Nonsynonymous SNV T88S 0.01 0.01 0.003 0 12 4 0 1 1 0 0 0 22.8 105087 chr17 16946125 16946125 - CGC rs376448844 MPRIP A26_V27insA 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 105088 chr17 17041452 17041452 G A rs779345408 MPRIP Nonsynonymous SNV R352Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.643 105089 chr17 7827555 7827555 T C rs117731997 KCNAB3 Nonsynonymous SNV N247S 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 24.8 105090 chr16 3063650 3063650 T G rs781642627 CLDN9 Nonsynonymous SNV L96R 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 105091 chr16 30749673 30749673 G A rs568088663 SRCAP Nonsynonymous SNV R2771Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 105092 chr20 1184256 1184256 G A rs372636955 C20orf202 Synonymous SNV P32P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.153 105093 chr17 34310760 34310760 C G rs41495150 CCL15-CCL14 0.02 0.021 0.003 4 24 8 0.01 1 0 0 0 0 4.373 105094 chr17 34313612 34313612 G A rs75238886 CCL14 Nonsynonymous SNV S25F 0.02 0.021 0.003 4 24 8 0.01 1 0 0 0 0 12.72 105095 chr17 34313674 34313674 G A rs113937434 CCL14 Synonymous SNV S4S 0.02 0.021 0.003 4 24 8 0.01 1 0 0 0 0 12.3 105096 chr17 34341398 34341398 A G rs61737011 CCL23 Synonymous SNV L38L 0.02 0.021 0.003 3 24 8 0.008 1 0 0 0 0 0.019 105097 chr20 13514699 13514699 C T rs145022707 TASP1 Synonymous SNV L124L 0.001 0.01 0.007 1 1 4 0.003 2 0 0 0 0 13.69 105098 chr20 13567973 13567973 C A rs117248024 TASP1 Synonymous SNV L109L 0.001 0.01 0.007 1 1 4 0.003 2 0 0 0 0 17.62 105099 chr16 31089259 31089259 G A rs148039622 ZNF646 Synonymous SNV P538P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.041 105100 chr17 79077757 79077757 G A rs142250650 BAIAP2 Synonymous SNV P305P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.03 105101 chr16 3165369 3165369 G A rs1019271470 ZNF205 Nonsynonymous SNV G24E 0.003 0 0 0 4 0 0 0 0 0 0 0 5.678 105102 chr15 76914159 76914159 T A rs184003295 SCAPER Nonsynonymous SNV Y640F 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 27.3 105103 chr20 16360225 16360225 G T rs148805920 KIF16B Nonsynonymous SNV R808S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 105104 chr17 18259294 18259294 A T rs143807950 SHMT1 Star tloss M1? 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Benign 24.3 105105 chr20 17596582 17596582 C T rs61737094 RRBP1 Nonsynonymous SNV E1314K 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 28.8 105106 chr17 26711876 26711876 - GCTC SARM1 Frameshift insertion D440Gfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 105107 chr17 26818582 26818582 C T rs782288401 SLC13A2 Synonymous SNV I283I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 105108 chr17 27308824 27308824 C T SEZ6 Nonsynonymous SNV D97N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.45 105109 chr17 27844593 27844593 A G rs75790207 TAOK1 Synonymous SNV Q609Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 7.454 105110 chr15 24922053 24922053 G T rs34629208 NPAP1 Nonsynonymous SNV D347Y 0.012 0.005 0.007 1 14 2 0.003 2 0 0 0 0 Likely benign 22.8 105111 chr20 18794463 18794463 T A rs41308631 SCP2D1 Nonsynonymous SNV W2R 0.004 0.008 0.01 11 5 3 0.028 3 0 0 0 0 15.62 105112 chr17 39406166 39406166 C T rs146098518 KRTAP9-4 Nonsynonymous SNV T65I 0.011 0.003 0.003 2 13 1 0.005 1 0 0 0 0 8.647 105113 chr17 37331645 37331645 C A rs199798694 CACNB1 Nonsynonymous SNV G533V 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 22.5 105114 chr16 422266 422266 G A rs150786218 TMEM8A Synonymous SNV H679H 0.012 0.01 0.007 3 14 4 0.008 2 0 0 0 0 9.088 105115 chr17 29645505 29645505 T C rs144778786 EVI2A Nonsynonymous SNV Q176R 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Likely benign 22.2 105116 chr17 21206497 21206497 C T rs926420103 MAP2K3 Synonymous SNV I144I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.04 105117 chr17 34195739 34195739 T C rs77630516 HEATR9 Nonsynonymous SNV Y3C 0.014 0.013 0.01 3 17 5 0.008 3 0 0 0 0 0.001 105118 chr15 30012766 30012766 G A rs200389891 TJP1 Synonymous SNV Y853Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.171 105119 chr17 34257637 34257637 T C rs2280786 RDM1 Nonsynonymous SNV H32R 0.014 0.013 0.01 3 17 5 0.008 3 0 0 0 0 0.004 105120 chr20 22562917 22562917 C T FOXA2 Synonymous SNV K321K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.143 105121 chr15 31283699 31283699 A T MTMR10 Nonsynonymous SNV L4H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 105122 chr17 30669027 30669027 G A rs773517312 C17orf75 Synonymous SNV R44R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 16.47 105123 chr15 31619429 31619429 C T KLF13 Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 105124 chr15 83499354 83499354 C T rs142422388 WHAMM Nonsynonymous SNV R549C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.84 105125 chr16 47488059 47488059 C T rs148994423 ITFG1 Nonsynonymous SNV A98T 0.004 0 0 0 5 0 0 0 0 0 0 0 14.65 105126 chr15 84592704 84592704 C G rs748275978 ADAMTSL3 Nonsynonymous SNV T679R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.07 105127 chr20 24988512 24988512 G A rs201971518 ACSS1 Synonymous SNV I531I 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 6.56 105128 chr17 36482438 36482438 C T rs184147344 GPR179 Synonymous SNV S2338S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 105129 chr20 2776248 2776248 C T rs145736623 CPXM1 Nonsynonymous SNV G573R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 32 105130 chr17 33772713 33772713 C A rs114405302 SLFN13 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.29 105131 chr17 36498948 36498948 C T rs143624972 GPR179 Nonsynonymous SNV R242Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.1 105132 chr17 36499019 36499019 A C rs74871223 GPR179 Nonsynonymous SNV D218E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.39 105133 chr17 36499599 36499599 G T rs111677298 GPR179 Nonsynonymous SNV A25D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.2 105134 chr17 36508505 36508505 C T rs41351844 SOCS7 Synonymous SNV S190S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 105135 chr17 34171684 34171707 GGCGGCTATGGTGGGGACAGAGGA - rs773308309 TAF15 G475_G482del 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 105136 chr16 53504499 53504499 A C RBL2 Nonsynonymous SNV Q817P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.03 105137 chr17 36623157 36623157 G A rs12326006 ARHGAP23 Synonymous SNV L411L 0.001 0 0.01 0 1 0 0 3 0 0 1 0 6.617 105138 chr17 36718502 36718502 T G rs79676385 SRCIN1 Synonymous SNV P299P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.027 105139 chr20 31294422 31294422 C T rs769713437 COMMD7 Nonsynonymous SNV G99D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 105140 chr17 36876626 36876626 C T MLLT6 Synonymous SNV I719I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.33 105141 chr17 3477060 3477060 T C TRPV1 Nonsynonymous SNV K657R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 105142 chr17 3483785 3483785 T C rs17633288 TRPV1 Nonsynonymous SNV T505A 0.019 0.013 0.007 3 22 5 0.008 2 1 0 0 0 Benign 0.715 105143 chr17 41174121 41174121 G A rs370589132 VAT1 Synonymous SNV A73A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.487 105144 chr17 37814245 37814245 G C STARD3 Nonsynonymous SNV V128L 0.003 0 0 0 4 0 0 0 0 0 0 0 19.18 105145 chr20 3204154 3204154 G T rs45446691 ITPA Synonymous SNV G98G 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 15.43 105146 chr20 3210190 3210190 G C rs144123179 SLC4A11 Synonymous SNV T536T 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.725 105147 chr20 33328528 33328530 TTC - rs752506964 NCOA6 E1844del 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 105148 chr15 89456538 89456538 G T rs541808249 MFGE8 Nonsynonymous SNV R5S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 17.6 105149 chr16 57559975 57559975 G A rs368604391 CCDC102A Nonsynonymous SNV A217V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.599 105150 chr17 38320381 38320381 C T rs140375987 CASC3 Nonsynonymous SNV P478L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 32 105151 chr20 34832709 34832709 G A rs147679615 AAR2 Nonsynonymous SNV R283Q 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23.6 105152 chr20 3557643 3557643 C T rs767625518 ATRN Synonymous SNV P668P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 105153 chr15 42133048 42133048 C T rs761422114 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV A99V 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 0.041 105154 chr20 36531790 36531790 A T rs977469224 VSTM2L Nonsynonymous SNV H13L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 105155 chr15 42143290 42143290 C T SPTBN5 Nonsynonymous SNV G3601D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 105156 chr17 42981513 42981513 C T rs752156243 FAM187A Nonsynonymous SNV R106C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 105157 chr17 43924244 43924244 G A rs142946664 SPPL2C Nonsynonymous SNV E658K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 105158 chr17 39086240 39086240 C T rs1045319373 KRT23 Synonymous SNV V59V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 105159 chr17 39119945 39119945 G A rs140783094 KRT39 Synonymous SNV A214A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 10.58 105160 chr15 44061838 44061838 C T rs147712601 PDIA3 Synonymous SNV G420G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 20.6 105161 chr16 66437044 66437044 C T CDH5 Nonsynonymous SNV S776L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.71 105162 chr15 44829394 44829394 - GGCGGCGGC rs560378535 EIF3J A8_G9insAAA 0.009 0.016 0.003 1 10 6 0.003 1 0 0 0 0 105163 chr20 4229437 4229437 C A rs569608654 ADRA1D Synonymous SNV V56V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.883 105164 chr15 44907712 44907712 T G rs150689014 SPG11 Synonymous SNV R963R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.343 105165 chr18 29118876 29118876 A T rs761157959 DSG2 Nonsynonymous SNV D605V 0.006 0 0 0 7 0 0 0 0 0 0 0 Uncertain significance 6.305 105166 chr20 44417584 44417584 C T rs772546615 WFDC3 Nonsynonymous SNV R66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 105167 chr15 49311657 49311657 T C rs1012123526 SECISBP2L Synonymous SNV Q376Q 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 5.79 105168 chr17 47797246 47797246 G C rs780032318 FAM117A Nonsynonymous SNV P195R 0.002 0.003 0 0 2 1 0 0 1 0 0 0 24.3 105169 chr17 4796836 4796836 C G rs750069696 MINK1 Nonsynonymous SNV D799E 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 0.001 105170 chr17 4120395 4120395 G A rs190934806 ANKFY1 Nonsynonymous SNV T156M 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 29.4 105171 chr16 72984791 72984791 G A rs143351192 ZFHX3 Synonymous SNV G17G 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Uncertain significance 10.13 105172 chr20 50401131 50401131 G A rs143702441 SALL4 Synonymous SNV D508D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.41 105173 chr20 52198472 52198472 A G rs34873389 ZNF217 Synonymous SNV A298A 0.008 0 0.024 5 9 0 0.013 7 0 0 0 0 4.044 105174 chr18 43252879 43252879 C T rs146120680 SLC14A2 Synonymous SNV I748I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.23 105175 chr17 5086865 5086865 G A rs199966875 ZNF594 Synonymous SNV H229H 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 0.042 105176 chr17 39725701 39725701 T C rs201833191 KRT9 Nonsynonymous SNV I341V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.006 105177 chr17 39622046 39622046 G A rs117928429 KRT32 Synonymous SNV C229C 0.014 0.016 0.02 13 16 6 0.033 6 0 0 0 0 10.09 105178 chr20 57036344 57036344 G A rs760045527 APCDD1L Synonymous SNV Y336Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 105179 chr17 39914979 39914979 C T JUP Synonymous SNV Q547Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 105180 chr20 57242588 57242588 G A STX16 Nonsynonymous SNV D59N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 105181 chr17 39140377 39140377 G T KRT40 Nonsynonymous SNV S50Y 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 0.36 105182 chr16 1709945 1709945 C T rs199878911 CRAMP1 Nonsynonymous SNV S765L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 21.6 105183 chr20 57571816 57571816 C T rs772171555 CTSZ Nonsynonymous SNV G227R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 105184 chr18 52262275 52262275 G A rs201631044 DYNAP Nonsynonymous SNV V55M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.023 105185 chr17 40947246 40947246 C T rs868616711 WNK4 Nonsynonymous SNV T600I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 105186 chr17 39316639 39316639 C A rs748378724 KRTAP4-4 Nonsynonymous SNV R102L 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 6.161 105187 chr16 83949036 83949036 A G rs200413924 MLYCD Nonsynonymous SNV K475R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 13.39 105188 chr16 19126578 19126578 T C rs114869688 ITPRIPL2 Synonymous SNV T265T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.878 105189 chr15 65108840 65108840 G A rs990518386 PIF1 Nonsynonymous SNV A600V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.02 105190 chr17 41245900 41245900 T G rs56012641 BRCA1 Nonsynonymous SNV N503H 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 Benign 21.5 105191 chr17 41246092 41246092 A G rs55906931 BRCA1 Nonsynonymous SNV F439L 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 Benign 0.001 105192 chr17 41251803 41251803 T C rs56187033 BRCA1 Nonsynonymous SNV Y132C 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 Benign 24.7 105193 chr17 47793593 47793593 T C rs770540422 FAM117A Nonsynonymous SNV H332R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.83 105194 chr17 39977232 39977232 C T rs143450797 FKBP10 Synonymous SNV L430L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.9 105195 chr16 20387497 20387497 C T rs143170020 PDILT Nonsynonymous SNV V146I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 105196 chr17 42427605 42427605 C A rs63750043 GRN Nonsynonymous SNV S120Y 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign/Likely benign 9.979 105197 chr17 6023792 6023792 C T rs16955477 WSCD1 Synonymous SNV S513S 0.026 0.034 0.007 6 30 13 0.015 2 0 0 0 1 20.2 105198 chr17 42478031 42478031 C T rs756143761 GPATCH8 Nonsynonymous SNV E394K 0.003 0 0 0 3 0 0 0 0 0 0 0 13.65 105199 chr17 40574760 40574760 A T rs146547678 CAVIN1 Nonsynonymous SNV V119D 0.007 0 0 0 8 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 105200 chr15 68596127 68596127 C G ITGA11 Nonsynonymous SNV V1160L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 105201 chr17 56670933 56670933 C T rs55973244 TEX14 Synonymous SNV R859R 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 9.377 105202 chr16 21151868 21151868 - T rs767225045 DNAH3 Frameshift insertion S229Ifs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 105203 chr17 40824339 40824339 G A rs200210041 PLEKHH3 Nonsynonymous SNV R281W 0.009 0.018 0.017 5 11 7 0.013 5 0 0 0 0 27.6 105204 chr17 61908207 61908207 A G PSMC5 Synonymous SNV T189T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.105 105205 chr17 40996656 40996656 A G rs34230945 AOC2 Nonsynonymous SNV I5V 0.023 0.026 0.027 7 27 10 0.018 8 1 0 0 0 0.006 105206 chr17 44953675 44953675 G A rs138314634 WNT9B Nonsynonymous SNV R222H 0.004 0.008 0 0 5 3 0 0 0 0 0 0 31 105207 chr17 5086838 5086838 T C rs765631261 ZNF594 Synonymous SNV P238P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.156 105208 chr17 61611299 61611299 G A rs140857709 KCNH6 Nonsynonymous SNV R243H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 105209 chr15 72495496 72495496 G A rs199853847 PKM Nonsynonymous SNV R397C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 105210 chr16 87742916 87742916 G A KLHDC4 Synonymous SNV L411L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.09 105211 chr15 73075971 73075971 A C ADPGK Nonsynonymous SNV F21C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 105212 chr17 45893549 45893549 C T rs753546134 OSBPL7 Nonsynonymous SNV G348D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 105213 chr20 62368952 62368952 G C LIME1 Nonsynonymous SNV C17S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 105214 chr17 4607259 4607259 C G rs758092652 PELP1 Nonsynonymous SNV G50R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.1 105215 chr16 88502972 88502986 CTTCCCGGGAACACC - rs281865162 ZNF469 L3032_T3036del 0.009 0.005 0.024 1 10 2 0.003 7 0 0 0 0 105216 chr20 744615 744615 G A rs16992990 SLC52A3 Synonymous SNV P200P 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Benign 7.666 105217 chr16 2580912 2580912 T C rs13331643 CEMP1 Nonsynonymous SNV K55E 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.013 105218 chr15 75499962 75499962 - CTGAGCCTGACTCTGCCACAG rs765506149 C15orf39 A537_P538insTAEPDSA 0.005 0 0 2 6 0 0.005 0 0 0 0 0 105219 chr21 15882649 15882649 A T SAMSN1 Synonymous SNV T181T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.878 105220 chr16 2816327 2816327 G A rs377178914 SRRM2 Nonsynonymous SNV R1933H 0.002 0 0 0 2 0 0 0 0 0 0 0 22 105221 chr17 56274420 56274420 T C rs149610649 EPX Nonsynonymous SNV F308L 0.01 0.008 0 4 12 3 0.01 0 0 0 0 0 Likely benign 26.6 105222 chr17 67149480 67149480 T C ABCA10 Nonsynonymous SNV T1368A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.68 105223 chr17 6524225 6524225 T C rs181699637 KIAA0753 Nonsynonymous SNV K101E 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 0.003 105224 chr16 88798877 88798877 G A rs774602954 PIEZO1 Nonsynonymous SNV R953C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 105225 chr17 42476539 42476544 CGACTA - rs751873847 GPATCH8 R891_S892del 0.003 0 0 2 4 0 0.005 0 0 0 0 0 105226 chr17 4624326 4624327 CT - ARRB2 C217Lfs*68 0.001 0 0 0 1 0 0 0 0 0 0 0 105227 chr17 4799771 4799771 C T rs375006681 MINK1 Synonymous SNV T1184T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 105228 chr17 4802804 4802804 G T rs121909515 CHRNE Synonymous SNV R331R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 6.885 105229 chr16 29998787 29998787 C T rs774325942 TAOK2 Nonsynonymous SNV A1065V 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 105230 chr18 76856627 76856627 G C rs144519079 ATP9B Nonsynonymous SNV G91R 0.016 0.01 0.003 2 19 4 0.005 1 0 0 0 0 14.03 105231 chr16 30982809 30982811 TCC - rs777098458 SETD1A S1058del 0.004 0 0 0 5 0 0 0 0 0 0 0 105232 chr16 89293423 89293423 C T rs149080634 ZNF778 Nonsynonymous SNV R215C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.2 105233 chr16 31102603 31102603 G A rs760391247 VKORC1 Nonsynonymous SNV A115V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.575 105234 chr17 61571016 61571016 C T rs150690061 ACE Synonymous SNV S470S 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.84 105235 chr17 51063800 51063800 G A rs199895158 C17orf112 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 105236 chr15 83561455 83561455 G A rs373302620 HOMER2 Synonymous SNV I48I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 105237 chr21 35987173 35987173 G A RCAN1 Synonymous SNV G46G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 105238 chr17 7131357 7131357 A G DVL2 Synonymous SNV I347I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.949 105239 chr17 62149423 62149423 G A rs374999844 ERN1 Synonymous SNV T132T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.02 105240 chr17 72340433 72340433 G - rs532366391 KIF19 Stop gain V178* 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 105241 chr17 7161930 7161930 G A rs751945814 ELP5 Synonymous SNV P221P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 105242 chr17 6373643 6373643 C A PITPNM3 Synonymous SNV L534L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.51 105243 chr17 55065149 55065149 A G rs530198332 SCPEP1 Nonsynonymous SNV M137V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 105244 chr19 10202963 10202963 C T rs777968731 SHFL Synonymous SNV G251G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 105245 chr17 72832524 72832524 C T rs201987993 TMEM104 Nonsynonymous SNV R397C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 105246 chr17 65162608 65162608 T C rs117249393 HELZ Synonymous SNV P627P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.087 105247 chr17 5365716 5365716 T C rs202095185 DHX33 Nonsynonymous SNV I28V 0.009 0 0 0 10 0 0 0 0 0 0 0 4.132 105248 chr19 1047513 1047513 A T ABCA7 Nonsynonymous SNV Q710L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27 105249 chr17 72960641 72960641 C T rs750102215 HID1 Synonymous SNV P51P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.15 105250 chr21 43442139 43442139 G C rs75419238 ZNF295-AS1 0 0 0.048 0 0 0 0 14 0 0 0 0 0.865 105251 chr19 10665828 10665828 C T rs142680117 KRI1 Synonymous SNV A572A 0.003 0.01 0.017 1 4 4 0.003 5 0 0 0 0 16.19 105252 chr16 3900637 3900637 C T rs56388626 CREBBP Synonymous SNV P153P 0.005 0.018 0.014 6 6 7 0.015 4 0 0 1 0 Benign 13.78 105253 chr17 56276536 56276536 G A rs146679694 EPX Nonsynonymous SNV R419Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 105254 chr16 4033319 4033319 C T rs561281628 ADCY9 Synonymous SNV A811A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.51 105255 chr16 4431583 4431583 C T rs143637945 VASN Synonymous SNV I235I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 1.233 105256 chr17 1639471 1639471 C T rs757047888 WDR81 Stop gain R619X 0.003 0 0 0 4 0 0 0 0 0 0 0 52 105257 chr19 1085855 1085855 C T rs200504479 ARHGAP45 Synonymous SNV D722D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.8 105258 chr17 6023862 6023862 G A rs138045353 WSCD1 Nonsynonymous SNV D537N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 105259 chr16 4626219 4626219 G A rs192982572 C16orf96 Nonsynonymous SNV A580T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.2 105260 chr21 45390557 45390557 G A rs1141627 AGPAT3 Synonymous SNV T178T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.04 105261 chr17 71232235 71232235 A G rs760629321 C17orf80 Nonsynonymous SNV K205R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.013 105262 chr17 73658914 73658914 T G rs759663263 RECQL5 Nonsynonymous SNV Q139P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 105263 chr21 45945712 45945712 G T rs782571753 TSPEAR Nonsynonymous SNV A387E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 105264 chr21 45949769 45949769 G A rs117791519 TSPEAR Synonymous SNV N234N 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign/Likely benign 4.395 105265 chr21 46117359 46117359 G A rs183770957 KRTAP10-12 Synonymous SNV T81T 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 5.997 105266 chr17 73888262 73888262 G A rs150111787 TRIM65 Nonsynonymous SNV S250L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.87 105267 chr17 61762932 61762932 T C MAP3K3 Nonsynonymous SNV L231S 0.001 0 0 0 1 0 0 0 0 0 0 0 29 105268 chr17 61895165 61895165 A G rs112345375 DDX42 Nonsynonymous SNV T742A 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 22.1 105269 chr15 90270509 90270509 C T rs745431939 WDR93 Synonymous SNV N334N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.377 105270 chr17 62532737 62532737 T C rs140659486 CEP95 Synonymous SNV F532F 0.006 0 0.007 0 7 0 0 2 0 0 0 0 6.696 105271 chr16 4935517 4935517 G A rs200407505 PPL Nonsynonymous SNV R1047W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.4 105272 chr17 56283902 56283902 G A rs181513926 MKS1 Nonsynonymous SNV R269C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.8 105273 chr17 62487017 62487017 G C rs530697513 POLG2 Nonsynonymous SNV L289V 0.003 0 0 0 3 0 0 0 0 0 0 0 13.77 105274 chr17 18226051 18226051 G T SMCR8 Synonymous SNV V827V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.814 105275 chr15 90744821 90744821 C G rs922767069 SEMA4B Nonsynonymous SNV T4S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.79 105276 chr21 47650362 47650362 C T rs2298694 MCM3AP-AS1 0 0 0.092 0 0 0 0 27 0 0 1 0 6.916 105277 chr21 47722049 47722049 G A rs747985174 C21orf58 Nonsynonymous SNV P172L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 105278 chr16 50745220 50745220 G A rs746104214 NOD2 Synonymous SNV A439A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.961 105279 chr21 47831944 47831944 A G rs770848998 PCNT Nonsynonymous SNV H1868R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 105280 chr17 65105319 65105319 T C rs143514400 HELZ Nonsynonymous SNV I1469V 0.012 0.003 0.01 7 14 1 0.018 3 0 0 0 0 0.135 105281 chr19 14584366 14584366 T C rs7249305 PTGER1 Nonsynonymous SNV H256R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.004 105282 chr17 56833612 56833612 C G rs116991234 PPM1E Nonsynonymous SNV P85R 0.017 0.018 0.01 4 20 7 0.01 3 0 0 0 0 23.1 105283 chr17 66872664 66872664 G A rs148226092 ABCA8 Nonsynonymous SNV P1396L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.9 105284 chr15 98509167 98509167 G C rs146146673 ARRDC4 Nonsynonymous SNV Q139H 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Benign 23 105285 chr22 19344443 19344443 G A rs782526039 HIRA Nonsynonymous SNV A789V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.37 105286 chr22 19706305 19706305 G T rs187090154 SEPTIN5 Synonymous SNV L15L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 19.89 105287 chr17 76497362 76497362 C T rs752524285 DNAH17 Nonsynonymous SNV R1796Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 105288 chr17 76563116 76563116 C T rs140052280 DNAH17 Nonsynonymous SNV D473N 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 14.9 105289 chr17 76568872 76568872 A C rs142471902 DNAH17 Nonsynonymous SNV F150L 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 1.059 105290 chr19 15565470 15565470 G A rs200240643 RASAL3 Synonymous SNV A652A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.19 105291 chr17 263606 263606 C T rs180817296 C17orf97 Synonymous SNV G324G 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 10.45 105292 chr17 26696694 26696694 C G VTN Nonsynonymous SNV E121D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 105293 chr17 7123506 7123506 G A rs2230178 ACADVL Nonsynonymous SNV G43D 0.014 0.018 0.003 3 16 7 0.008 1 1 0 0 0 Benign 3.635 105294 chr17 26965056 26965056 A C rs751136884 KIAA0100 Synonymous SNV L380L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.935 105295 chr17 26969991 26969991 A C rs149451782 KIAA0100 Nonsynonymous SNV H137Q 0.007 0.003 0 0 8 1 0 0 0 0 0 0 23.9 105296 chr22 22294015 22294015 C T rs200384965 PPM1F Nonsynonymous SNV E82K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.62 105297 chr17 71429982 71429982 C T rs779304466 SDK2 Nonsynonymous SNV A401T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 105298 chr16 625959 625959 C T rs35227916 PIGQ Synonymous SNV A270A 0.007 0 0.007 5 8 0 0.013 2 0 0 0 0 Benign 10.7 105299 chr22 22673305 22673305 C T rs142368630 BMS1P20 0.007 0.003 0.007 7 8 1 0.018 2 0 0 0 0 5.749 105300 chr17 7163723 7163723 A C rs3744400 CLDN7 Synonymous SNV P202P 0.014 0.018 0.01 3 16 7 0.008 3 1 0 0 0 0.587 105301 chr17 27068099 27068099 C T rs149987249 NEK8 Nonsynonymous SNV S579L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.26 105302 chr17 78313268 78313268 C T RNF213 Synonymous SNV L1701L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.41 105303 chr17 78395702 78395702 G T rs137940529 ENDOV Synonymous SNV V101V 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 8.794 105304 chr16 66850486 66850486 G C rs760747466 NAE1 Nonsynonymous SNV Q191E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 105305 chr16 67003664 67003664 T A rs948902865 CES3 0.009 0.008 0 0 11 3 0 0 0 0 0 0 23.7 105306 chr17 79095786 79095786 G A AATK Synonymous SNV S547S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.926 105307 chr17 29226616 29226616 C T rs774201738 TEFM Synonymous SNV S218S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 8.157 105308 chr22 24237465 24237465 T C rs750065511 MIF-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 105309 chr22 24615974 24615974 C T rs564749492 GGT5 Synonymous SNV S499S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.614 105310 chr16 68112758 68112758 C T rs567343889 DUS2 Stop gain R416X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 105311 chr17 72862608 72862608 G A rs571288519 FDXR Nonsynonymous SNV T66M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.8 105312 chr17 76235336 76235336 C T rs201037898 TMEM235 Nonsynonymous SNV P141L 0.011 0.005 0 8 13 2 0.021 0 0 0 0 0 23.4 105313 chr16 1756379 1756379 G A rs201073807 MAPK8IP3 Synonymous SNV V13V 0.003 0 0.014 0 3 0 0 4 0 0 1 0 2.439 105314 chr17 7286289 7286289 G A rs199784773 TNK1 Nonsynonymous SNV R15Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 105315 chr17 32965152 32965152 G A rs767222076 TMEM132E Synonymous SNV E1042E 0.003 0 0 0 4 0 0 0 0 0 0 0 8.756 105316 chr17 7320870 7320870 G A rs201523501 NLGN2 Nonsynonymous SNV G754R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.35 105317 chr16 70294995 70294995 G A rs144323646 AARS1 Synonymous SNV I579I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 9.166 105318 chr17 7909809 7909809 G A rs149722832 GUCY2D Synonymous SNV A385A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 105319 chr22 28316552 28316552 - GTTC rs765258858 MIR3199-1, MIR3199-2 0 0 0.068 0 0 0 0 20 0 0 1 0 105320 chr22 28316555 28316555 T A rs765421181 MIR3199-1, MIR3199-2 0 0 0.071 0 0 0 0 21 0 0 1 0 3.124 105321 chr22 28316558 28316561 GAAC - rs758947016 MIR3199-1, MIR3199-2 0 0 0.071 0 0 0 0 21 0 0 1 0 105322 chr22 28378445 28378445 T C rs200749476 TTC28 Nonsynonymous SNV K2404E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.912 105323 chr17 8048220 8048220 - G PER1 Frameshift insertion D771Rfs*81 0 0.003 0 0 0 1 0 0 0 0 0 0 105324 chr17 33951487 33951487 G A rs141661445 AP2B1 Synonymous SNV L199L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 11.99 105325 chr17 73732406 73732406 G A rs201929789 ITGB4 Nonsynonymous SNV R600H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 105326 chr17 80882881 80882881 C T rs186699341 TBCD Nonsynonymous SNV S776L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 105327 chr22 30864518 30864518 C G SEC14L3 Nonsynonymous SNV E134Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.43 105328 chr17 78337410 78337410 C T rs775085564 RNF213 Nonsynonymous SNV T3857I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 105329 chr16 726189 726189 C T rs8056588 RHBDL1 Stop gain Q30X 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 22.8 105330 chr19 18305624 18305624 C T MPV17L2 Synonymous SNV S132S 0.005 0 0 0 6 0 0 0 0 0 0 0 10.58 105331 chr17 8809025 8809025 G A rs61753147 PIK3R5 Synonymous SNV L78L 0.02 0.018 0.041 14 24 7 0.036 12 1 0 0 0 0.905 105332 chr16 75579342 75579342 G A rs778407563 TMEM231 Nonsynonymous SNV P217S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.23 105333 chr17 36708820 36708820 C T SRCIN1 Synonymous SNV P781P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.15 105334 chr17 74464836 74464836 C T rs61739395 AANAT Nonsynonymous SNV T3M 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.044 105335 chr17 74464963 74464963 T C rs546891168 AANAT Synonymous SNV A45A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.074 105336 chr17 74465352 74465352 G T rs140754096 AANAT Nonsynonymous SNV E87D 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 105337 chr16 27374422 27374422 G C rs766136530 IL4R Nonsynonymous SNV E583D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 105338 chr17 74729163 74729163 G A rs373685308 METTL23 Nonsynonymous SNV R63Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 105339 chr19 19338212 19338212 G A rs137981080 NCAN Nonsynonymous SNV A595T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.601 105340 chr19 19653211 19653211 C T rs141241974 CILP2 Nonsynonymous SNV P207L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 105341 chr17 75484342 75484342 C T rs199557573 SEPTIN9 Nonsynonymous SNV R243W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 34 105342 chr19 20044774 20044774 G A rs145491369 ZNF93 Nonsynonymous SNV G337E 0.014 0.008 0.007 5 17 3 0.013 2 1 0 0 0 25.9 105343 chr19 20727883 20727966 TGCCACATTCTTCACATTTGTAGGGTTTCTCTCCACTATGAATTATCTTGTGTGTAGTAAGGGATGAGAAGTACTTAAAGGCTC - ZNF737 R348_G375del 0.009 0.003 0 0 10 1 0 0 0 0 0 0 105344 chr17 8791919 8791919 G A rs148816437 PIK3R5 Synonymous SNV S9S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 12.17 105345 chr16 81253800 81253800 T C rs201098974 PKD1L2 Nonsynonymous SNV Q59R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.19 105346 chr17 38906649 38906649 A G KRT25 Synonymous SNV L386L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.791 105347 chr17 73728300 73728300 G T rs8079267 ITGB4 Nonsynonymous SNV Q478H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.302 105348 chr17 80137024 80137026 CTC - CCDC57 S418del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 105349 chr16 82034431 82034431 G A rs199542016 SDR42E1 Synonymous SNV V11V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.87 105350 chr22 38902021 38902021 G A rs770972357 DDX17 Synonymous SNV L74L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.283 105351 chr17 80350367 80350367 G A rs775981039 OGFOD3 Synonymous SNV R289R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 105352 chr17 76795028 76795028 C T rs201438220 USP36 Nonsynonymous SNV V1068M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 105353 chr16 837354 837354 C T rs572593639 RPUSD1 Synonymous SNV L102L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.341 105354 chr16 30991233 30991235 TCC - rs766697775 SETD1A S1377del 0.001 0 0 0 1 0 0 0 0 0 0 0 105355 chr17 7733800 7733800 C T rs61744634 DNAH2 Synonymous SNV S4012S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 10.45 105356 chr17 76799808 76799808 C T rs9911674 USP36 Synonymous SNV L823L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.393 105357 chr17 76831552 76831552 G A rs34078860 USP36 Synonymous SNV D95D 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 6.39 105358 chr17 78064001 78064064 GGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG - CCDC40 K970Nfs*51 0.016 0.01 0.003 7 19 4 0.018 1 6 1 0 2 105359 chr17 78064117 78064145 GGGACGCGCGCAGGCACGTGCACGAACAA - rs758946774 CCDC40 R1014Qfs*70 0.03 0.023 0.017 18 35 9 0.046 5 11 3 0 6 105360 chr22 40814960 40814960 C T rs769903487 MRTFA Synonymous SNV L494L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 105361 chr18 13884753 13884753 C T rs181640454 MC2R Nonsynonymous SNV M255I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 17.97 105362 chr18 19752072 19752072 - ACC rs1060500081 GATA6 H333_P334insH 0.001 0 0 3 1 0 0.008 0 0 0 0 0 105363 chr17 8411984 8411984 G A rs773208362 MYH10 Synonymous SNV L1003L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 105364 chr18 21113459 21113459 G T rs758902805 NPC1 Nonsynonymous SNV T1205K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 33 105365 chr16 84493266 84493266 C T ATP2C2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.302 105366 chr18 21124365 21124365 C T rs113013085 NPC1 Synonymous SNV P691P 0.011 0.008 0.01 10 13 3 0.026 3 0 0 0 0 Benign/Likely benign 16.31 105367 chr17 74289519 74289519 C T rs146697124 QRICH2 Nonsynonymous SNV R264Q 0.008 0.016 0.027 2 9 6 0.005 8 0 0 0 0 1.567 105368 chr17 7834017 7834017 G A rs371210413 TRAPPC1 Synonymous SNV C115C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.175 105369 chr17 78358877 78358877 T C RNF213 Synonymous SNV I4787I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.2 105370 chr18 22040886 22040886 G A HRH4 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.1 105371 chr18 22805812 22805812 A G rs35770137 ZNF521 Synonymous SNV T470T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.07 105372 chr16 8719609 8719609 G A rs35084049 METTL22 Synonymous SNV P29P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.505 105373 chr18 11689748 11689748 A G GNAL Synonymous SNV A62A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.175 105374 chr19 3178860 3178860 C A S1PR4 Nonsynonymous SNV L24I 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 1.805 105375 chr18 29793165 29793165 T A rs138989509 MEP1B Nonsynonymous SNV S408T 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.792 105376 chr16 4511954 4511954 G T NMRAL1 Nonsynonymous SNV S179Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.69 105377 chr22 46318934 46318934 C T rs61731169 WNT7B Synonymous SNV T284T 0.018 0.023 0.027 7 21 9 0.018 8 0 0 0 0 15.2 105378 chr22 46508570 46508570 C T rs951653054 MIRLET7BHG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 105379 chr22 46509677 46509677 G C rs143676966 MIRLET7BHG 0 0 0.01 0 0 0 0 3 0 0 0 0 3.317 105380 chr18 46808535 46808535 A G rs542338974 DYM Synonymous SNV P318P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.162 105381 chr16 50138852 50138852 A T rs148277103 HEATR3 Synonymous SNV I410I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.349 105382 chr17 7684083 7684083 G A rs117487916 DNAH2 Nonsynonymous SNV D1996N 0.016 0.01 0.003 8 19 4 0.021 1 0 0 0 0 15.76 105383 chr16 50138853 50138853 C A rs141326733 HEATR3 Nonsynonymous SNV R411S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 33 105384 chr16 50666309 50666309 A G rs752233604 NKD1 Synonymous SNV Q271Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.247 105385 chr18 47778010 47778010 C T rs766385982 CFAP53 Synonymous SNV E206E 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 14.8 105386 chr17 7750180 7750180 - ACCACC KDM6B P264_L265insPP 0.001 0 0 0 1 0 0 0 0 0 0 0 105387 chr17 80151926 80151926 G A rs377327247 CCDC57 Synonymous SNV A236A 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 7.814 105388 chr16 88967964 88967964 C T rs539654957 CBFA2T3 Synonymous SNV P84P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.397 105389 chr19 35613689 35613689 G A rs35578165 FXYD3 Nonsynonymous SNV G40S 0.013 0.021 0 7 15 8 0.018 0 0 0 0 0 26.2 105390 chr18 3141984 3141984 G C rs201104206 MYOM1 Nonsynonymous SNV P660A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 24 105391 chr18 5406842 5406842 G A rs759621846 EPB41L3 Synonymous SNV T580T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 7.161 105392 chr17 40021084 40021084 G C rs149464035 KLHL11 Synonymous SNV A180A 0.007 0 0 0 8 0 0 0 2 0 0 0 13.2 105393 chr22 50659459 50659459 A C TUBGCP6 Nonsynonymous SNV V1110G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 105394 chr18 32374095 32374095 A G rs146923532 DTNA Synonymous SNV L81L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.538 105395 chr17 80885077 80885077 T C rs189904059 TBCD Synonymous SNV V829V 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 Likely benign 0.051 105396 chr16 89294280 89294280 C T rs146370283 ZNF778 Synonymous SNV T500T 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 15.4 105397 chr17 8157592 8157592 A G rs199789262 PFAS Nonsynonymous SNV N84S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 105398 chr22 50886796 50886796 G A rs201402818 SBF1 Synonymous SNV P1718P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 105399 chr22 50895022 50895022 C T rs372950672 SBF1 Nonsynonymous SNV A1304T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 105400 chr22 50899103 50899103 G A rs77064034 SBF1 Synonymous SNV D1003D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.491 105401 chr17 41891653 41891653 T G MPP3 Synonymous SNV G387G 0.007 0 0 0 8 0 0 0 2 0 0 0 0.137 105402 chr17 10315984 10315984 G T rs144321381 MYH8 Stop gain C403X 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 36 105403 chr18 56191053 56191053 G A rs33969768 ALPK2 Nonsynonymous SNV R1884C 0.039 0.029 0.017 3 46 11 0.008 5 0 0 0 0 23.3 105404 chr16 630253 630253 T C rs753088062 PIGQ Nonsynonymous SNV V469A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.8 105405 chr17 10360850 10360850 C T rs138979215 MYH4 Nonsynonymous SNV G595D 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.77 105406 chr17 10363295 10363295 C T rs139626801 MYH4 Nonsynonymous SNV D464N 0.001 0 0 4 1 0 0.01 0 0 0 0 0 33 105407 chr16 66583871 66583871 G A rs200121712 TK2 Nonsynonymous SNV R32W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 22.8 105408 chr18 46812807 46812807 G C rs897630711 DYM Nonsynonymous SNV Q314E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 105409 chr2 102022452 102022454 AGA - rs140084999 RFX8 L123del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 105410 chr17 11645572 11645572 C A DNAH9 Stop gain S2018X 0.003 0.008 0 0 3 3 0 0 0 0 0 0 35 105411 chr2 102992407 102992407 C T rs115326837 IL18R1 Nonsynonymous SNV T15M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.339 105412 chr2 103039743 103039743 C T rs11465687 IL18RAP Synonymous SNV L2L 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 8.25 105413 chr2 103090237 103090237 G A rs80335292 SLC9A4 Nonsynonymous SNV V7M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.216 105414 chr16 683901 683901 C T rs141905470 WFIKKN1 Synonymous SNV G497G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.708 105415 chr2 103431214 103431214 A G rs745812157 TMEM182 Synonymous SNV L17L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.582 105416 chr2 105896849 105896849 T C TGFBRAP1 Nonsynonymous SNV K485E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 105417 chr16 69373279 69373279 C A COG8 Nonsynonymous SNV E59D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.73 105418 chr18 65181396 65181396 G A rs142309058 DSEL Synonymous SNV D150D 0.007 0.005 0 0 8 2 0 0 0 0 0 0 3.316 105419 chr17 16256686 16256686 - CGGAGGCCC rs539910742 CENPV S21_A22insGAS 0.007 0.003 0 8 8 1 0.021 0 4 0 0 4 105420 chr17 16527443 16527443 C T rs146366930 ZNF624 Nonsynonymous SNV G253S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.94 105421 chr16 70299456 70299456 C T rs150442667 AARS1 Synonymous SNV E444E 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 Benign 16.3 105422 chr17 16875349 16875349 C T rs200309474 TNFRSF13B Nonsynonymous SNV R14H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.659 105423 chr17 17410491 17410491 C T PEMT Nonsynonymous SNV G201R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 105424 chr17 17717671 17717671 A C rs138489288 SREBF1 Nonsynonymous SNV L906R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 105425 chr17 17919900 17919900 G A rs368791219 DRC3 Nonsynonymous SNV R496H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 105426 chr16 71955248 71955248 A G rs150994774 IST1 Synonymous SNV L148L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 13.36 105427 chr19 39898682 39898682 A G ZFP36 Synonymous SNV L108L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.042 105428 chr18 72913642 72913642 G A rs141337829 ZADH2 Nonsynonymous SNV T165I 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 2.847 105429 chr18 31326171 31326171 C T rs151081332 ASXL3 Nonsynonymous SNV A2120V 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 105430 chr2 114017076 114017076 G A rs925294004 PAX8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.99 105431 chr17 18178119 18178123 TCTGT - rs770056993 TOP3A N905Mfs*5 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 105432 chr2 116593753 116593753 A G rs200764067 DPP10 Synonymous SNV A403A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.4 105433 chr19 39998147 39998147 C T rs191149379 DLL3 Nonsynonymous SNV S521F 0.006 0.013 0.01 1 7 5 0.003 3 0 0 1 0 Benign/Likely benign 18.42 105434 chr18 74592121 74592121 C T rs139451924 ZNF236 Nonsynonymous SNV S346L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 20.4 105435 chr17 1936798 1936798 G A rs778877452 DPH1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 105436 chr2 119752090 119752090 C T rs150890503 MARCO Synonymous SNV S519S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 105437 chr16 75634173 75634173 G A rs752025717 ADAT1 Nonsynonymous SNV R315W 0.003 0 0 0 3 0 0 0 0 0 0 0 32 105438 chr16 76523717 76523717 G A rs142486971 CNTNAP4 Nonsynonymous SNV A544T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 28.3 105439 chr17 48745283 48745283 C T rs149253830 ABCC3 Synonymous SNV A565A 0.004 0 0 0 5 0 0 0 0 0 0 0 18.57 105440 chr18 7043335 7043335 A G rs9950267 LAMA1 Nonsynonymous SNV L349S 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 24.4 105441 chr2 128389835 128389835 G A rs190699169 MYO7B Nonsynonymous SNV R1729Q 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 26.6 105442 chr18 9584803 9584803 C A rs769115505 PPP4R1 Nonsynonymous SNV M203I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 105443 chr18 44057151 44057151 C T rs142931455 LOXHD1 Nonsynonymous SNV G1114R 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 Likely benign 17.26 105444 chr18 43450591 43450591 G A rs116076204 EPG5 Nonsynonymous SNV R2056W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 105445 chr18 47777321 47777321 T G rs751267111 CFAP53 Nonsynonymous SNV H268P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.8 105446 chr18 76753560 76753560 C T rs555559358 SALL3 Synonymous SNV P523P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.817 105447 chr16 814057 814057 G T rs779116493 MSLN Nonsynonymous SNV A72S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.336 105448 chr18 47364132 47364132 A G MYO5B Synonymous SNV S1631S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.026 105449 chr19 42383204 42383204 C T rs199967393 CD79A Nonsynonymous SNV T75M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 23.8 105450 chr19 42392275 42392275 C T ARHGEF1 Nonsynonymous SNV P13S 0.003 0 0 0 4 0 0 0 0 0 0 0 17.32 105451 chr19 42746342 42746342 C T rs377139858 GSK3A Synonymous SNV K92K 0.004 0 0 0 5 0 0 0 0 0 0 0 17.16 105452 chr19 42857664 42857664 G A rs374935528 MEGF8 Nonsynonymous SNV G1133S 0.001 0 0 0 1 0 0 0 0 0 0 0 30 105453 chr2 144765060 144765060 G A rs116416428 GTDC1 Synonymous SNV L188L 0.011 0.013 0.003 5 13 5 0.013 1 0 0 0 0 16.01 105454 chr18 29038507 29038507 A G rs200254801 DSG3 Nonsynonymous SNV T106A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 105455 chr19 4354080 4354080 C T rs117613418 MPND Nonsynonymous SNV R235W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 105456 chr17 26817813 26817813 G A rs372935169 SLC13A2 Nonsynonymous SNV V204I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 105457 chr16 84695334 84695334 G A rs367949831 KLHL36 Synonymous SNV A419A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.077 105458 chr17 61791457 61791457 C T rs56163554 STRADA Synonymous SNV A8A 0.009 0 0.007 2 11 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.63 105459 chr18 33718335 33718335 G A rs753011010 ELP2 Nonsynonymous SNV V131I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 105460 chr19 10792704 10792704 C T rs141175607 ILF3 Synonymous SNV L406L 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 14.23 105461 chr16 85840349 85840349 G A rs751718635 COX4I1 Nonsynonymous SNV G127S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.8 105462 chr19 10225103 10225103 G A rs147142449 P2RY11, PPAN-P2RY11 Nonsynonymous SNV V272M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23 105463 chr19 11303859 11303859 C T rs754854938 KANK2 Synonymous SNV A299A 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 6.892 105464 chr16 88493939 88493939 C T rs754101639 ZNF469 Nonsynonymous SNV R21C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.052 105465 chr2 160241785 160241785 T C rs372315034 BAZ2B Synonymous SNV G1153G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.014 105466 chr19 10398288 10398288 G T rs576131531 ICAM4, ICAM4 Nonsynonymous SNV Q157H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.7 105467 chr2 160862183 160862183 T G rs151215519 PLA2R1 Nonsynonymous SNV H605P 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Likely benign 24.5 105468 chr2 162851849 162851849 T C DPP4 Nonsynonymous SNV K696E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 105469 chr19 1255457 1255457 G A rs143719550 MIDN Nonsynonymous SNV R298Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.5 105470 chr18 67531573 67531573 G A rs141282007 CD226 Nonsynonymous SNV R175C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 105471 chr19 12996524 12996524 C A rs566095433 KLF1 Nonsynonymous SNV G174C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.4 105472 chr2 168108352 168108352 T C rs200077620 XIRP2 Nonsynonymous SNV W3262R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 105473 chr19 10812834 10812834 G T QTRT1 Stop gain E119X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 105474 chr19 1082856 1082856 C T rs139929664 ARHGAP45 Synonymous SNV I480I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 105475 chr16 88793514 88793514 C T rs939031047 PIEZO1 Nonsynonymous SNV V1130I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.171 105476 chr19 1082878 1082878 C T ARHGAP45 Nonsynonymous SNV L488F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 105477 chr19 11094881 11094881 G A rs529632222 SMARCA4 Synonymous SNV P18P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 14.28 105478 chr19 11098581 11098581 C T rs372379166 SMARCA4 Synonymous SNV L367L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 14.88 105479 chr19 11107184 11107186 AGA - SMARCA4 E593del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 105480 chr19 11152063 11152063 C T rs377057304 SMARCA4 Synonymous SNV S1387S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 16.35 105481 chr19 1119610 1119610 C T rs941556603 SBNO2 Synonymous SNV E369E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.24 105482 chr18 72776232 72776232 G A ZNF407 Synonymous SNV L2185L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 1.548 105483 chr19 45162098 45162098 G C rs776870687 PVR Synonymous SNV G360G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.53 105484 chr19 11347139 11347139 C T rs770630374 DOCK6 Nonsynonymous SNV A759T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 105485 chr17 36003420 36003420 G C rs35498905 DDX52 Synonymous SNV L10L 0.023 0.029 0.024 3 27 11 0.008 7 1 0 0 0 7.098 105486 chr19 45323964 45323964 C T rs199854072 BCAM Nonsynonymous SNV P589L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 18.25 105487 chr17 71232573 71232573 T C rs748678733 C17orf80 Nonsynonymous SNV S318P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 19.93 105488 chr2 172641887 172641887 G A rs747419483 SLC25A12 Nonsynonymous SNV T645M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.7 105489 chr16 89627847 89627847 A G rs772762714 SNORD68 0.001 0 0 0 1 0 0 0 0 0 0 0 8.431 105490 chr19 12223391 12223391 - T ZNF788P Frameshift insertion H346Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 105491 chr19 12383489 12383489 C T rs201845011 ZNF44 Synonymous SNV T495T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.71 105492 chr2 174231052 174231052 C G rs116079323 CDCA7 Synonymous SNV T280T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 14.52 105493 chr19 1272346 1272346 G A rs141322579 CIRBP Synonymous SNV P266P 0.011 0.008 0.003 1 13 3 0.003 1 0 0 0 0 5.998 105494 chr19 12461860 12461860 C T rs547916207 ZNF442 Nonsynonymous SNV R111H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 105495 chr18 74962915 74962915 C A GALR1 Synonymous SNV I137I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.41 105496 chr16 90075696 90075696 C T DBNDD1 Synonymous SNV R58R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 105497 chr16 90075814 90075814 G A rs201427311 DBNDD1 Nonsynonymous SNV P19L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.23 105498 chr19 13051209 13051209 A G CALR Synonymous SNV K215K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.983 105499 chr2 176988108 176988108 C - HOXD9 E206Sfs*50 0 0 0.003 0 0 0 0 1 0 0 0 0 105500 chr19 46285509 46285509 C T rs781678068 DMPK Nonsynonymous SNV G41R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23 105501 chr19 1000742 1000742 C A rs550863693 GRIN3B Synonymous SNV A102A 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 14.06 105502 chr19 1004803 1004803 G A rs201638380 GRIN3B Nonsynonymous SNV E435K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 105503 chr19 14157331 14157331 C T rs149202847 IL27RA Nonsynonymous SNV P348S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 18.92 105504 chr19 1004872 1004872 G A rs61750461 GRIN3B Nonsynonymous SNV A458T 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 0.22 105505 chr17 72367989 72367989 G A rs140126959 GPR142 Synonymous SNV A125A 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 12.3 105506 chr18 65181093 65181093 T C rs146614820 DSEL Synonymous SNV K251K 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 5.052 105507 chr19 1005334 1005334 A G rs60621387 GRIN3B Nonsynonymous SNV T612A 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 1.749 105508 chr17 38296953 38296953 A G rs756753448 CASC3 Nonsynonymous SNV Q51R 0.003 0.005 0 0 3 2 0 0 0 1 0 0 22.8 105509 chr19 14574764 14574764 C T rs139622328 PKN1 Synonymous SNV S540S 0.02 0.023 0.017 7 23 9 0.018 5 0 0 0 0 Benign 12.12 105510 chr17 72784931 72784931 C T rs62638676 TMEM104 Synonymous SNV F57F 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 12.09 105511 chr17 72791204 72791204 G A rs151084084 TMEM104 Nonsynonymous SNV A161T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.2 105512 chr17 72832325 72832325 C T rs75835569 TMEM104 Synonymous SNV R330R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.6 105513 chr17 72875684 72875684 G A rs111943174 FADS6 Synonymous SNV D252D 0.005 0.005 0 0 6 2 0 0 0 0 0 0 3.802 105514 chr19 1619122 1619122 C T rs374172636 TCF3 Nonsynonymous SNV D480N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22 105515 chr17 72929516 72929516 C G rs35589289 OTOP2 Nonsynonymous SNV T522R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 13.83 105516 chr19 1622125 1622125 C T rs201703361 TCF3 Synonymous SNV P250P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 14.05 105517 chr17 14110497 14110497 C T rs777894321 COX10 Synonymous SNV S433S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 11.77 105518 chr17 73230796 73230796 T C rs35857535 NUP85 Synonymous SNV L514L 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 0.041 105519 chr17 16004983 16004983 C T rs781757424 NCOR1 Synonymous SNV T664T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 105520 chr17 73234828 73234828 A G rs3178020 GGA3 Synonymous SNV L534L 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Benign 11.77 105521 chr17 73263012 73263012 C T rs61739324 MIF4GD Nonsynonymous SNV E160K 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 26.4 105522 chr19 15291514 15291514 G A rs372688320 NOTCH3 Synonymous SNV C1040C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.14 105523 chr19 15484101 15484101 G A rs778326770 AKAP8 Nonsynonymous SNV P141L 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 25.9 105524 chr19 15564082 15564082 G T rs777051699 RASAL3 Nonsynonymous SNV P836T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.334 105525 chr18 74091834 74091834 T C rs200255972 ZNF516 Nonsynonymous SNV N746D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 105526 chr17 39156085 39156085 G T rs548322379 KRTAP3-2 Synonymous SNV R7R 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 0.047 105527 chr17 39190814 39190814 A G rs142863014 KRTAP1-3 Nonsynonymous SNV I87T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 105528 chr19 1048982 1048982 C T rs9282560 ABCA7 Synonymous SNV C786C 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Benign 4.685 105529 chr19 10909194 10909194 A G DNM2 Synonymous SNV T456T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 2.95 105530 chr17 39296192 39296192 G A rs146035703 KRTAP4-6 Nonsynonymous SNV T183I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.996 105531 chr2 189599515 189599515 T A rs148753509 DIRC1 0.003 0.016 0.01 0 3 6 0 3 0 0 0 0 15.28 105532 chr17 39346197 39346197 G A rs139370444 KRTAP9-1 Nonsynonymous SNV R20K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 105533 chr2 190044256 190044256 T C rs549894501 COL5A2 Synonymous SNV K25K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.446 105534 chr18 8796354 8796354 G A rs150964075 MTCL1 Nonsynonymous SNV R712Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 105535 chr19 1255424 1255424 C T rs756131224 MIDN Nonsynonymous SNV T287M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 105536 chr19 16682794 16682794 C T rs575018623 SLC35E1 Nonsynonymous SNV V128I 0.005 0 0 0 6 0 0 0 0 0 0 0 21.7 105537 chr19 17837785 17837785 C T rs199739419 MAP1S Nonsynonymous SNV P505L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 12.57 105538 chr19 496503 496503 G A rs372974358 MADCAM1 Nonsynonymous SNV D2N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 105539 chr17 39521469 39521469 T C rs537065960 KRT33B Synonymous SNV T278T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 105540 chr17 39525926 39525926 C A rs201850085 KRT33B Nonsynonymous SNV C26F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 105541 chr19 17013578 17013578 G A CPAMD8 Synonymous SNV P1522P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.201 105542 chr17 39535719 39535719 C T rs760307131 KRT34 Synonymous SNV L296L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.355 105543 chr2 197297986 197297986 A C rs143689433 HECW2 Synonymous SNV T54T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.91 105544 chr19 17122468 17122468 C T rs374384655 CPAMD8 Nonsynonymous SNV V123M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.3 105545 chr19 14038731 14038731 G C rs77389229 CC2D1A Nonsynonymous SNV G781A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 27.8 105546 chr19 14139196 14139196 C T rs79665112 RLN3 Synonymous SNV H60H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 7.584 105547 chr19 14165121 14165121 C T rs11880169 PALM3 Nonsynonymous SNV A389T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.64 105548 chr19 17369080 17369080 C T rs141786382 USHBP1 Synonymous SNV R323R 0.003 0.01 0.01 0 3 4 0 3 0 0 0 0 14.03 105549 chr19 14168241 14168241 C G rs534293143 PALM3 Nonsynonymous SNV E31D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25 105550 chr19 14196284 14196284 T G rs574645791 C19orf67 Nonsynonymous SNV E52D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.348 105551 chr19 14262327 14262327 G A rs745616938 ADGRL1 Synonymous SNV P1256P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 105552 chr17 76157044 76157044 C T rs72898209 C17orf99 Nonsynonymous SNV P27S 0.005 0.005 0.02 3 6 2 0.008 6 0 0 0 0 16.46 105553 chr19 14591441 14591441 G A rs113543116 GIPC1 Synonymous SNV T49T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 12.26 105554 chr17 39726138 39726138 C A rs115349045 KRT9 Synonymous SNV L285L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.13 105555 chr19 18864361 18864361 A G rs150056965 CRTC1 Nonsynonymous SNV K197R 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 19.67 105556 chr17 39912027 39912027 G A rs151178348 JUP Nonsynonymous SNV P736L 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Uncertain significance 20.7 105557 chr19 19764685 19764685 C T ATP13A1 Nonsynonymous SNV D670N 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 6.506 105558 chr19 1979326 1979326 G A rs142134343 CSNK1G2 Synonymous SNV T259T 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 13.95 105559 chr19 1788909 1788909 C T rs202137046 ATP8B3 Nonsynonymous SNV G982D 0.011 0.01 0.007 3 13 4 0.008 2 0 0 0 0 26.6 105560 chr19 5110774 5110774 G A rs775667638 KDM4B Nonsynonymous SNV E354K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 105561 chr17 40312349 40312349 G A rs138917401 KCNH4 Synonymous SNV S921S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 3.321 105562 chr19 17954642 17954642 C T rs139738701 JAK3 Synonymous SNV P84P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.22 105563 chr2 207615685 207615685 C T rs368847776 MDH1B Nonsynonymous SNV R244H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 105564 chr19 51228390 51228390 A C rs377437691 CLEC11A Nonsynonymous SNV Q213P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 105565 chr2 207619742 207619742 C A MDH1B Nonsynonymous SNV A203S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 105566 chr19 15471683 15471683 G A rs199943338 AKAP8 Synonymous SNV S501S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 12.66 105567 chr17 78063996 78063996 A C CCDC40 Nonsynonymous SNV H964P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.801 105568 chr19 1825895 1825895 G A rs117819413 REXO1 Synonymous SNV T653T 0.018 0.01 0 4 21 4 0.01 0 1 0 0 0 9.329 105569 chr19 11097212 11097223 GGCCCTGGCCCC - SMARCA4 G241_P244del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 105570 chr19 11105641 11105641 C T rs2288845 SMARCA4 Synonymous SNV N519N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 14.65 105571 chr17 41361611 41361611 - A rs955525284 NBR1 Frameshift insertion C924Mfs*9 0.003 0.005 0 0 3 2 0 0 0 0 0 0 105572 chr19 18710427 18710427 C A CRLF1 Synonymous SNV V115V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.03 105573 chr17 26963993 26963993 C G KIAA0100 Nonsynonymous SNV R513P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 105574 chr2 210654296 210654296 T C rs145935313 UNC80 Synonymous SNV C255C 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign/Likely benign 0.066 105575 chr19 51656570 51656570 T A rs958878983 LOC101928517 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.138 105576 chr19 1923155 1923155 C T rs201575102 SCAMP4 Nonsynonymous SNV S117L 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 23 105577 chr17 27943095 27943095 C G rs138692015 CORO6 Synonymous SNV V153V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.25 105578 chr17 27958107 27958107 G A SSH2 Nonsynonymous SNV P1342S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 105579 chr17 27963551 27963551 G T rs144643694 SSH2 Nonsynonymous SNV A539D 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 26.1 105580 chr19 16918879 16918879 T C NWD1 Nonsynonymous SNV S1201P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.7 105581 chr19 51892621 51892621 G T C19orf84 Nonsynonymous SNV R60S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25 105582 chr19 19257680 19257680 C T rs3729770 BORCS8-MEF2B, MEF2B Synonymous SNV L182L 0.006 0.008 0.02 6 7 3 0.015 6 0 0 0 0 14.17 105583 chr19 19609527 19609527 A G rs199902842 GATAD2A Synonymous SNV T400T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.331 105584 chr17 4446414 4446414 G A rs767507272 MYBBP1A Nonsynonymous SNV R896C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 105585 chr19 288110 288110 G A rs372291960 PLPP2 Synonymous SNV C38C 0 0.003 0 0 0 1 0 0 0 0 0 0 6.015 105586 chr19 13192555 13192555 G A rs201174259 NFIX Synonymous SNV S339S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 13.62 105587 chr19 3019294 3019294 G A rs369247494 TLE2 Synonymous SNV A180A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.448 105588 chr19 30199252 30199252 C T rs201118405 C19orf12 Synonymous SNV A34A 0.006 0.013 0.007 2 7 5 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.6 105589 chr19 3179613 3179613 G A rs199734577 S1PR4 Nonsynonymous SNV V275I 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 8.638 105590 chr2 219341618 219341618 C G rs61752209 USP37 Nonsynonymous SNV S663T 0.006 0 0.02 0 7 0 0 6 0 0 0 0 17.31 105591 chr19 14153272 14153272 C T rs113485753 IL27RA Nonsynonymous SNV P181L 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 Benign 11.67 105592 chr19 17306074 17306074 G A rs112900956 MYO9B Nonsynonymous SNV G1280S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.025 105593 chr19 2248020 2248020 G A rs60862139 SF3A2 Synonymous SNV P290P 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 7.824 105594 chr19 33167851 33167851 G C RGS9BP Nonsynonymous SNV A228P 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 23.9 105595 chr19 14876357 14876357 C T rs753945705 ADGRE2 Synonymous SNV P269P 0.003 0 0 0 4 0 0 0 0 0 0 0 11.09 105596 chr17 34106259 34106259 G A rs747185425 MMP28 Synonymous SNV S60S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 105597 chr17 8048245 8048256 GGGCTGGGGGCT - rs746815666 PER1 A759_P762del 0.004 0.003 0 0 5 1 0 0 0 0 0 0 105598 chr19 307345 307345 G A rs34129568 MIER2 Nonsynonymous SNV P428S 0.01 0.003 0.003 1 12 1 0.003 1 0 0 0 0 0.026 105599 chr19 35487143 35487143 C T rs568063155 GRAMD1A Stop gain R73X 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.994 105600 chr19 35550654 35550654 C T rs751977724 HPN Nonsynonymous SNV R80C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 105601 chr19 18375346 18375346 G A rs200745939 IQCN Stop gain Q1002X 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 35 105602 chr19 30500143 30500143 T C rs1127493 URI1 Synonymous SNV D288D 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 0.041 105603 chr19 30936435 30936435 G A ZNF536 Nonsynonymous SNV D656N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 105604 chr17 8141381 8141381 G A rs571035242 CTC1 Synonymous SNV Y205Y 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.606 105605 chr19 19042160 19042160 G A rs78642721 HOMER3 Nonsynonymous SNV R254C 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 23.7 105606 chr17 36614353 36614353 T C rs377612823 ARHGAP23 Nonsynonymous SNV L24P 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 22.6 105607 chr2 225365109 225365109 T A rs41373148 CUL3 Synonymous SNV A461A 0.014 0.003 0.007 7 17 1 0.018 2 0 0 0 0 Benign/Likely benign 9.878 105608 chr2 225875221 225875221 A G rs538876310 MIR4439 0 0 0.003 0 0 0 0 1 0 0 0 0 0.394 105609 chr17 36920386 36920386 T C rs200486857 PSMB3 Nonsynonymous SNV I195T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 105610 chr19 3578044 3578044 G A rs763544710 HMG20B Nonsynonymous SNV E292K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 105611 chr19 20308207 20308207 A T rs148497901 ZNF486 Nonsynonymous SNV I230L 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 6.524 105612 chr19 21561453 21561453 C A rs761626824 ZNF738 Synonymous SNV P114P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.423 105613 chr17 39114975 39114975 C T rs775535011 KRT39 Nonsynonymous SNV G452R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.624 105614 chr19 17547421 17547421 G A rs184482815 TMEM221 Nonsynonymous SNV A241V 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 105615 chr19 55525763 55525763 A C rs200566792 GP6 Nonsynonymous SNV M517R 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 1.109 105616 chr17 56434857 56434857 C T rs61746279 RNF43 Synonymous SNV P633P 0.013 0.005 0.007 8 15 2 0.021 2 0 0 0 0 10.2 105617 chr19 55598197 55598197 C - EPS8L1 P505Rfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 105618 chr19 55603679 55603679 G A rs770222759 PPP1R12C Nonsynonymous SNV R689C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 105619 chr19 374420 374420 G A rs200820164 THEG Nonsynonymous SNV R104W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 105620 chr18 2891040 2891040 G A rs114420829 EMILIN2 Synonymous SNV T305T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.47 105621 chr19 34303789 34303789 G A rs933836580 KCTD15 Nonsynonymous SNV R263Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 105622 chr19 3771696 3771696 A C rs139127905 RAX2 Synonymous SNV G61G 0.007 0.005 0.017 4 8 2 0.01 5 0 0 0 0 Benign 0.002 105623 chr18 2927797 2927797 A T LPIN2 Nonsynonymous SNV S545T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 105624 chr19 35551624 35551624 C T rs12981585 HPN Synonymous SNV V238V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.17 105625 chr2 239140062 239140062 C T rs74605005 LINC02610 0 0 0.051 0 0 0 0 15 0 0 7 0 8.632 105626 chr2 240003837 240003837 G A rs755115219 HDAC4 Synonymous SNV D866D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 105627 chr2 240323977 240323977 C T rs114089109 HDAC4-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 4.702 105628 chr19 33695650 33695650 G A rs200473590 LRP3 Nonsynonymous SNV A123T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 105629 chr2 241390175 241390175 C T rs547980929 LOC100130449 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 105630 chr19 38609970 38609970 C T rs142597261 SIPA1L3 Synonymous SNV D772D 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 Benign 12.69 105631 chr19 36049336 36049336 G A rs142110899 ATP4A Synonymous SNV G476G 0.003 0 0 0 3 0 0 0 0 0 0 0 14.59 105632 chr17 63957596 63957596 A T rs773791859 CEP112 Synonymous SNV A577A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.282 105633 chr17 6493107 6493107 T C rs61735435 KIAA0753 Nonsynonymous SNV I627M 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 22.5 105634 chr2 241907552 241907552 G A rs535263253 CROCC2 Nonsynonymous SNV R1425H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.331 105635 chr17 40341837 40341837 G A rs200709125 GHDC Stop gain R493X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 105636 chr19 5654110 5654110 A C rs201328292 SAFB Nonsynonymous SNV K365T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 105637 chr19 39401412 39401412 G A CCER2 Nonsynonymous SNV R168W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.89 105638 chr19 36341346 36341346 A G rs539716201 NPHS1 Synonymous SNV S176S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.98 105639 chr17 40695498 40695498 G T NAGLU Nonsynonymous SNV A492S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 105640 chr19 19638103 19638103 G A rs773496318 NDUFA13 Nonsynonymous SNV E63K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.8 105641 chr19 19655352 19655352 C T rs745788981 CILP2 Synonymous SNV A666A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.95 105642 chr17 40850751 40850751 C T rs376403056 CNTNAP1 Synonymous SNV Y1326Y 0.003 0 0 0 3 0 0 0 0 0 0 0 1.354 105643 chr19 36029240 36029240 G T rs61745734 GAPDHS Nonsynonymous SNV A93S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 26.1 105644 chr18 43419041 43419041 C T rs61995716 SIGLEC15 Synonymous SNV R285R 0.009 0.013 0.003 1 10 5 0.003 1 0 0 0 0 12.92 105645 chr19 37209885 37209885 T C rs904448038 ZNF567 Nonsynonymous SNV F56L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.562 105646 chr2 242945651 242945651 T C rs56124169 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 1.737 105647 chr2 242945653 242945656 TAAA - rs55773393 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 105648 chr2 242945954 242945954 G A rs35459510 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 0.199 105649 chr2 242946562 242946562 C T rs151275019 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 7.918 105650 chr19 57085829 57085829 G T rs202028451 ZNF470 Nonsynonymous SNV A43S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16 105651 chr19 3752563 3752563 G A rs80066100 APBA3 Synonymous SNV A446A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.84 105652 chr19 362306 362306 C T rs369121135 THEG Nonsynonymous SNV R321H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 105653 chr19 36234727 36234727 C A rs139492953 U2AF1L4 Nonsynonymous SNV G129V 0.006 0 0 2 7 0 0.005 0 0 0 0 0 17.89 105654 chr19 40710464 40710464 G A rs748129608 MAP3K10 Synonymous SNV A312A 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 13.86 105655 chr17 42427038 42427038 G A rs200019356 GRN Nonsynonymous SNV V90M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.53 105656 chr19 4033438 4033438 C T rs201980537 PIAS4 Synonymous SNV S334S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 105657 chr19 41622409 41622409 G A rs145103345 CYP2F1 Nonsynonymous SNV R74Q 0.004 0.003 0.007 3 5 1 0.008 2 0 0 1 0 12.06 105658 chr19 2396593 2396593 C T rs202221607 TMPRSS9 Nonsynonymous SNV R67W 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 105659 chr19 37368040 37368040 C T ZNF345 Nonsynonymous SNV A103V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 105660 chr17 72610163 72610163 G T CD300E Nonsynonymous SNV T133N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.321 105661 chr19 37618585 37618585 C G rs760734359 ZNF420 Nonsynonymous SNV A231G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 105662 chr18 56807231 56807231 T C rs28392733 SEC11C Synonymous SNV D17D 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 6.623 105663 chr2 31420161 31420161 G A rs76399854 CAPN14 Nonsynonymous SNV R277W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 105664 chr18 56998664 56998664 A G rs752474998 LMAN1 Synonymous SNV G494G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.191 105665 chr19 42729121 42729121 C T rs150807158 ZNF526 Nonsynonymous SNV P189L 0.016 0.018 0.007 5 19 7 0.013 2 0 0 0 0 Benign 11.2 105666 chr18 5890876 5890876 C A TMEM200C Nonsynonymous SNV G396V 0.003 0 0 0 4 0 0 0 0 0 0 0 24 105667 chr19 58945777 58945777 C G rs199920539 ZNF132 Nonsynonymous SNV R345T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 105668 chr2 32832683 32832683 C T rs56242351 BIRC6 Synonymous SNV I4744I 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 14.69 105669 chr2 33150469 33150469 C T rs72789844 LINC00486 0 0 0.014 0 0 0 0 4 0 0 0 0 4.854 105670 chr19 44048357 44048357 A G rs776763666 XRCC1 Nonsynonymous SNV Y551H 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 27.8 105671 chr17 73125048 73125048 G A rs113032142 ARMC7 Nonsynonymous SNV R171H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.14 105672 chr19 44118041 44118042 GA - SRRM5 D592Sfs*5 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 105673 chr17 7324557 7324557 G A rs770195806 SPEM1 Nonsynonymous SNV R188K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 105674 chr19 6216463 6216463 C T rs141648797 MLLT1 Synonymous SNV S420S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.2 105675 chr19 38573035 38573035 - GAAGGA SIPA1L3 K282_A283insEK 0.001 0 0 0 1 0 0 0 0 0 0 0 105676 chr17 73489101 73489101 G A TMEM94 Synonymous SNV S678S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.096 105677 chr17 73495002 73495002 T A rs140791256 TMEM94 Synonymous SNV G1289G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 105678 chr17 73555385 73555385 G A rs201683909 LLGL2 Nonsynonymous SNV E142K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 105679 chr17 73555446 73555446 G A rs61744731 LLGL2 Nonsynonymous SNV R162H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 105680 chr17 4796274 4796274 T - rs773611705 MINK1 V734Afs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 105681 chr17 4796277 4796277 - CCCTGTG rs776467781 MINK1 Frameshift insertion S736Pfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 105682 chr19 44418779 44418779 T G rs61731637 ZNF45 Nonsynonymous SNV H270P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.67 105683 chr17 4806052 4806052 C A rs4790235 CHRNE Nonsynonymous SNV G18V 0.02 0.031 0 9 24 12 0.023 0 2 1 0 0 Benign 16.43 105684 chr19 44501408 44501408 C T rs147749364 ZNF155 Nonsynonymous SNV R467W 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.55 105685 chr17 73895741 73895741 C T rs746322017 MRPL38 Nonsynonymous SNV G242D 0.002 0.005 0 7 2 2 0.018 0 0 0 0 0 23 105686 chr19 39051988 39051988 T C RYR1 Nonsynonymous SNV F4168S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 105687 chr19 44500942 44500942 A T rs10409556 ZNF155 Synonymous SNV T311T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.01 105688 chr17 48618836 48618836 T A EPN3 Nonsynonymous SNV F456I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 105689 chr17 4864114 4864114 T C rs61749470 SPAG7 Synonymous SNV Q40Q 0.032 0.049 0.007 9 37 19 0.023 2 3 3 0 0 0.214 105690 chr19 7810551 7810551 C G CD209 Nonsynonymous SNV A157P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 105691 chr17 48913443 48913443 G A rs150395238 WFIKKN2 Nonsynonymous SNV D49N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 105692 chr19 44833378 44833378 T C rs202124762 ZNF112 Nonsynonymous SNV H250R 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 0.006 105693 chr19 44622458 44622458 C T rs62640901 ZNF225 Nonsynonymous SNV L45F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 105694 chr17 4893532 4893532 G A rs201119350 INCA1 Nonsynonymous SNV P25S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.436 105695 chr18 72913384 72913384 T G rs757955275 ZADH2 Nonsynonymous SNV N251T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.658 105696 chr19 42744168 42744168 C T rs771018222 GSK3A Nonsynonymous SNV R137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 105697 chr2 54482232 54482232 A C rs750300842 TSPYL6 Nonsynonymous SNV W353G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 105698 chr19 8176870 8176870 C T rs757402144 FBN3 Nonsynonymous SNV E1318K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.125 105699 chr17 75488795 75488795 C T rs200274444 SEPTIN9 Synonymous SNV F379F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Likely benign 18.69 105700 chr19 4028553 4028553 G A rs147751353 PIAS4 Synonymous SNV P209P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 105701 chr17 7605088 7605088 C T rs73248508 WRAP53 Synonymous SNV C312C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.23 105702 chr18 77160428 77160428 T A rs371822461 NFATC1 Nonsynonymous SNV F13I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.8 105703 chr19 8455145 8455145 C T rs978449528 RAB11B-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 8.219 105704 chr19 37440909 37440909 A G rs201720006 ZNF568 Nonsynonymous SNV K221R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 105705 chr2 67632284 67632284 A G rs763463738 ETAA1 Nonsynonymous SNV T824A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 105706 chr17 76510969 76510969 C T rs143872440 DNAH17 Nonsynonymous SNV V1334M 0.004 0 0 3 5 0 0.008 0 0 0 0 0 15.15 105707 chr19 45916830 45916830 G C rs749775040 ERCC1 Synonymous SNV T292T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.022 105708 chr19 1041508 1041508 G A rs199517248 ABCA7 0.004 0 0 0 5 0 0 0 0 0 0 0 24.5 105709 chr19 46271371 46271371 C T rs141944211 SIX5 Synonymous SNV Q244Q 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 15.39 105710 chr19 42719391 42719391 G A DEDD2 Synonymous SNV R114R 0.003 0 0 0 4 0 0 0 0 0 0 0 10.64 105711 chr19 47700542 47700542 T C rs117605411 SAE1 Synonymous SNV Y262Y 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 Benign 0.427 105712 chr19 46267280 46267280 C T rs911637879 BHMG1 Synonymous SNV D607D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12 105713 chr19 38875159 38875159 A G rs145910727 GGN Nonsynonymous SNV S618P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.421 105714 chr19 10794149 10794149 C T rs143757354 ILF3 Synonymous SNV L598L 0.005 0 0 0 6 0 0 0 0 0 0 0 18.94 105715 chr19 48048396 48048396 G A rs571605029 ZNF541 Nonsynonymous SNV P464S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.001 105716 chr2 74076569 74076569 C A STAMBP Nonsynonymous SNV N139K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 105717 chr19 47856757 47856757 G A rs149523167 DHX34 Nonsynonymous SNV R157H 0.002 0 0 4 2 0 0.01 0 0 0 0 0 23 105718 chr2 79364435 79364435 T C rs571015031 REG1CP 0 0 0.003 0 0 0 0 1 0 0 0 0 3.735 105719 chr2 79364442 79364442 T G rs538604454 REG1CP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.491 105720 chr2 79365228 79365228 T A rs1963424 REG1CP 0 0 0.088 0 0 0 0 26 0 0 2 0 6.253 105721 chr19 47137364 47137364 C T GNG8 Nonsynonymous SNV R61H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 105722 chr2 79385866 79385866 C G rs879246680 REG3A Nonsynonymous SNV A36P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.002 105723 chr19 45849802 45849802 G A rs370852508 KLC3 Nonsynonymous SNV V87M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 105724 chr17 78403900 78403900 A G rs1026137054 ENDOV Nonsynonymous SNV T300A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.798 105725 chr19 45922431 45922431 T A ERCC1 Synonymous SNV P150P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.943 105726 chr19 47863284 47863284 G T rs748261002 DHX34 Nonsynonymous SNV E444D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 105727 chr17 65026963 65026963 T C rs762265124 CACNG4 Nonsynonymous SNV M276T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 105728 chr19 40828026 40828026 C T rs138317244 C19orf47 Synonymous SNV P344P 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 10.41 105729 chr19 48945113 48945113 C T rs566978074 GRIN2D Synonymous SNV S780S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 105730 chr19 12386869 12386869 A T rs768568339 ZNF44 Nonsynonymous SNV V11E 0.006 0 0 0 7 0 0 0 1 0 0 0 26.4 105731 chr2 96943673 96943673 G A SNRNP200 Nonsynonymous SNV P1876S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 105732 chr2 97351831 97351831 C T rs372356350 FER1L5 Nonsynonymous SNV R684C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 105733 chr19 49469156 49469156 C T rs751857518 FTL Nonsynonymous SNV L78F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 14.91 105734 chr17 79639634 79639634 G T CCDC137 Nonsynonymous SNV R257L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.5 105735 chr2 98431707 98431707 C T rs201269846 TMEM131 Nonsynonymous SNV S416N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 105736 chr17 80085703 80085703 G C rs7213172 CCDC57 Nonsynonymous SNV Q430E 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 0.001 105737 chr3 100073616 100073616 G C rs201912363 NIT2 Nonsynonymous SNV W228C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 105738 chr17 80159457 80159457 G A rs7219708 CCDC57 Synonymous SNV L122L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 7.753 105739 chr17 80196762 80196762 G A rs61730223 SLC16A3 Synonymous SNV S436S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 7.18 105740 chr17 68128332 68128332 G A rs146940841 KCNJ16 Nonsynonymous SNV R70Q 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25 105741 chr17 8046628 8046628 G A PER1 Nonsynonymous SNV P1010S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 105742 chr17 80543919 80543919 C T rs146027480 FOXK2 Synonymous SNV V473V 0.006 0.005 0.01 4 7 2 0.01 3 0 0 0 0 Benign 21.7 105743 chr19 43093108 43093108 G A rs141077776 CEACAM8 Synonymous SNV A262A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.992 105744 chr19 45411093 45411093 C T rs373020952 APOE Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 105745 chr19 50771431 50771431 G A rs374883445 MYH14 Nonsynonymous SNV R906H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 105746 chr19 50796514 50796514 C A rs116035034 MYH14 Synonymous SNV R1720R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 17.5 105747 chr17 8161511 8161511 G C rs758258598 PFAS Nonsynonymous SNV E444Q 0.005 0 0 2 6 0 0.005 0 0 0 0 0 19.87 105748 chr1 101704577 101704577 C G rs41287280 S1PR1 Nonsynonymous SNV R13G 0.008 0.005 0.01 6 9 2 0.015 3 0 0 0 0 8.563 105749 chr19 50938476 50938476 C T rs116548119 MYBPC2 Synonymous SNV P26P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.69 105750 chr19 50938483 50938483 G A rs57092106 MYBPC2 Nonsynonymous SNV E29K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.97 105751 chr19 50954153 50954153 G A rs8104931 MYBPC2 Nonsynonymous SNV G514S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 105752 chr19 48917816 48917816 C A GRIN2D Synonymous SNV R463R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 105753 chr19 15760015 15760015 A G rs61734307 CYP4F3 Nonsynonymous SNV M191V 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 Benign 11.6 105754 chr1 10521649 10521649 C T rs61776020 DFFA Synonymous SNV Q298Q 0.014 0.026 0.024 5 16 10 0.013 7 0 0 0 0 11.66 105755 chr3 112253090 112253090 C A rs190048553 ATG3 Nonsynonymous SNV V297L 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 0.539 105756 chr19 49167531 49167531 A G rs142533877 NTN5 Nonsynonymous SNV I280T 0.014 0.023 0.031 7 17 9 0.018 9 0 0 0 0 28.4 105757 chr19 50339031 50339031 C T rs185100172 MED25 Synonymous SNV A598A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign/Likely benign 13.22 105758 chr19 46663890 46663890 A G rs114285863 IGFL2 Synonymous SNV P31P 0.011 0.008 0.02 2 13 3 0.005 6 0 0 0 0 0.195 105759 chr19 46850355 46850355 T C rs138763336 PPP5C Star tloss M1? 0.005 0 0 1 6 0 0.003 0 0 0 0 0 21.3 105760 chr19 46973147 46973147 G A rs114902340 PNMA8A Synonymous SNV G382G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.362 105761 chr19 51742833 51742833 G A rs147713159 CD33 Nonsynonymous SNV A202T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.001 105762 chr3 118227458 118227458 - TC rs547902319 LOC105374060 0 0 0.003 0 0 0 0 1 0 0 0 0 105763 chr19 47570057 47570057 C T rs546413565 ZC3H4 Synonymous SNV A1156A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.908 105764 chr19 49705301 49705301 G A rs182262420 TRPM4 Nonsynonymous SNV V658I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 11.14 105765 chr19 519018 519018 C T rs145134429 TPGS1 Synonymous SNV A156A 0.027 0.029 0.014 13 32 11 0.033 4 0 0 0 1 15.39 105766 chr19 47987369 47987369 C T rs1056707416 KPTN Nonsynonymous SNV D17N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 105767 chr19 17013581 17013581 C T rs200862393 CPAMD8 Synonymous SNV P1521P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.78 105768 chr19 501743 501743 - CTCCCGACACCACCTCCCAGGAGC rs777004052 MADCAM1 S261_P262insQEPPDTTS 0.002 0 0 0 2 0 0 0 0 0 0 0 105769 chr19 50735280 50735280 C T rs151082668 MYH14 Nonsynonymous SNV T348M 0.002 0.008 0 0 2 3 0 0 0 0 0 0 33 105770 chr19 48733814 48733814 C T rs138051424 CARD8 Nonsynonymous SNV A256T 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 Likely benign 14.57 105771 chr19 52658897 52658897 C T rs754625688 ZNF836 Nonsynonymous SNV S680N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 10.3 105772 chr3 122288223 122288223 A G rs144700343 DTX3L Synonymous SNV L429L 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 11.08 105773 chr1 111986006 111986006 C A rs116374713 WDR77 Synonymous SNV A146A 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 15.75 105774 chr3 123021985 123021985 C T rs758708718 ADCY5 Nonsynonymous SNV V531M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 105775 chr19 5111453 5111453 G C KDM4B Nonsynonymous SNV A395P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 105776 chr19 17766700 17766700 G C rs756111373 UNC13A Nonsynonymous SNV D425E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.157 105777 chr19 4513549 4513549 G A rs146566557 PLIN4 Synonymous SNV S141S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.996 105778 chr1 112539190 112539190 A G rs562585559 LINC01750 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.239 105779 chr18 28979428 28979428 G A rs201015162 DSG4 Nonsynonymous SNV G400E 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 Uncertain significance 23.5 105780 chr3 124415017 124415017 G A rs150310200 KALRN Synonymous SNV L840L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 11.25 105781 chr3 124567365 124567365 C T rs146962770 ITGB5 Synonymous SNV E26E 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 15.22 105782 chr19 18084997 18084997 C T rs374179343 KCNN1 Synonymous SNV F100F 0.007 0.003 0 0 8 1 0 0 0 0 0 0 15.86 105783 chr19 49244593 49244593 G A rs150421537 IZUMO1 Synonymous SNV C186C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.457 105784 chr19 53116646 53116648 TGT - rs568637119 ZNF83 Q390del 0.011 0.023 0.003 10 13 9 0.026 1 0 0 0 0 105785 chr3 126218211 126218211 G A rs9871671 UROC1 Nonsynonymous SNV R429C 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 26.5 105786 chr3 126385067 126385067 C T rs2271989 NUP210P1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.071 105787 chr3 126385070 126385070 G A rs2271990 NUP210P1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.874 105788 chr19 53854366 53854366 G A rs543460835 ZNF845 Synonymous SNV S146S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 5.271 105789 chr19 19243962 19243962 C T rs11550042 TMEM161A Synonymous SNV P55P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.14 105790 chr19 52217174 52217174 C T rs45625331 HAS1 Nonsynonymous SNV V414M 0.006 0.01 0.007 3 7 4 0.008 2 0 0 0 0 Likely benign 26.4 105791 chr3 12943013 12943013 T G rs190809678 IQSEC1 Nonsynonymous SNV H814P 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 13.49 105792 chr19 19765362 19765362 C T rs962969927 ATP13A1 Synonymous SNV T601T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.08 105793 chr19 19770513 19770513 C T rs138162868 ATP13A1 Nonsynonymous SNV V192M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.6 105794 chr19 50374937 50374937 G C AKT1S1 Nonsynonymous SNV P165R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 105795 chr19 2039746 2039746 C T rs140693851 MKNK2 Nonsynonymous SNV G422S 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 18.17 105796 chr19 48342749 48342749 A G rs61748442 CRX Nonsynonymous SNV Y142C 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 105797 chr3 132349301 132349307 TAAAATA - rs766254865 ACAD11 Y313Rfs*5 0.001 0 0.003 0 1 0 0 1 0 0 0 0 105798 chr19 54972048 54972048 G A rs753999168 LENG8 Synonymous SNV T781T 0.004 0.003 0 3 5 1 0.008 0 0 0 0 1 11.57 105799 chr19 54376826 54376826 A T rs137941003 MYADM Nonsynonymous SNV T15S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 105800 chr19 54974538 54974538 C T rs202206879 LENG9 Nonsynonymous SNV G58R 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 1 0.851 105801 chr19 53770135 53770135 G A rs761037081 VN1R4 Nonsynonymous SNV P262S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.4 105802 chr19 53085517 53085517 G A rs751075146 ZNF701 Nonsynonymous SNV V69I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.001 105803 chr19 55452319 55452321 TCT - rs770554876 NLRP7 E110del 0.002 0.003 0 3 2 1 0.008 0 0 0 0 1 105804 chr1 146757132 146757132 G A rs142236750 CHD1L Synonymous SNV K458K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 7.253 105805 chr19 2290262 2290262 C A rs374612947 LINGO3 Nonsynonymous SNV R505L 0.004 0 0 0 5 0 0 0 0 0 0 0 26 105806 chr3 138668432 138668432 - AAGATGTGCT rs745912128 FOXL2NB Stop gain L61* 0 0 0.003 0 0 0 0 1 0 0 0 0 105807 chr17 77755846 77755846 G A rs139276916 CBX2 Synonymous SNV T178T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.803 105808 chr3 141006209 141006209 C A PXYLP1 Nonsynonymous SNV S140Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 105809 chr19 55178171 55178171 C T rs117405938 LILRB4 Nonsynonymous SNV P368S 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 1.474 105810 chr19 2813151 2813151 C T rs374306847 THOP1 Synonymous SNV G649G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.05 105811 chr19 49514320 49514320 C T rs190848887 RUVBL2 Synonymous SNV R250R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.25 105812 chr17 78321265 78321265 G A rs775568210 RNF213 Nonsynonymous SNV V3044M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 105813 chr19 49655273 49655273 C T rs111621046 HRC Nonsynonymous SNV V672I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 105814 chr17 78321975 78321975 G A rs144070062 RNF213 Synonymous SNV A3280A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 105815 chr19 49657531 49657531 - GTGCCTGTGGGCCTGGTGTCCATACTCAGTGGAGACATCATCATCATCATCATCATCTTCTTCTTCTTCTTCTTTGTGGCCTCGGTGCCTGTGGCTGGGGCTGTGATGGTGGTGTTCATCGGAGACATCCTCATCCTCTTCCTTTCTGTGACCTCC HRC H321_Q322insGGHRKEEDEDVSDEHHHHSPSHRHRGHKEEEEEDDDDDDDVSTEYGHQAHRH 0.001 0 0 0 1 0 0 0 0 0 0 0 105816 chr19 49657711 49657716 CATCAT - rs531655952 HRC D260_D261del 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 105817 chr19 49657714 49657716 CAT - HRC D261del 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 105818 chr3 150603171 150603171 A G MINDY4B Nonsynonymous SNV S270P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 105819 chr19 49657806 49657806 C T rs756913154 HRC Nonsynonymous SNV G230E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 105820 chr19 5590371 5590371 C T rs150472516 SAFB2 Nonsynonymous SNV G815S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 19.77 105821 chr19 3179884 3179884 G T rs3746072 S1PR4 Nonsynonymous SNV R365L 0.017 0.005 0.003 1 20 2 0.003 1 1 0 0 0 9.552 105822 chr19 49658424 49658424 G A rs61585939 HRC Nonsynonymous SNV P24L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 105823 chr3 151085969 151085969 G A rs146195573 MED12L Synonymous SNV A1125A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.049 105824 chr19 54664765 54664765 G A TMC4 Nonsynonymous SNV P614L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 105825 chr19 33334776 33334776 G A rs139388814 SLC7A9 Synonymous SNV P353P 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.511 105826 chr17 79164863 79164863 C T rs904045040 CEP131 Synonymous SNV K893K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.01 105827 chr3 15507850 15507850 G A rs373735085 COLQ Nonsynonymous SNV A237V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 105828 chr19 55758385 55758385 G A rs778102126 PPP6R1 Synonymous SNV D29D 0.003 0 0 0 3 0 0 0 0 0 0 0 12.79 105829 chr19 56127774 56127774 G A rs983632524 ZNF865 Synonymous SNV R930R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 7.761 105830 chr19 50306251 50306251 G A rs756372451 AP2A1 Synonymous SNV E720E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 105831 chr19 52619829 52619829 C G rs148566131 ZNF616 Synonymous SNV A196A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.424 105832 chr17 79514378 79514378 C T rs72854496 FAAP100 Nonsynonymous SNV R577Q 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 5.263 105833 chr17 79667505 79667505 A G rs146731960 HGS Nonsynonymous SNV M631V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 11.72 105834 chr17 79867448 79867448 G A rs139109597 PCYT2 Synonymous SNV N40N 0.013 0 0.01 2 15 0 0.005 3 0 0 0 0 11.45 105835 chr19 55964678 55964678 G T ISOC2 Nonsynonymous SNV H135Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.088 105836 chr3 164906038 164906038 G A rs73165236 SLITRK3 Nonsynonymous SNV R861C 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 25.1 105837 chr3 169664357 169664357 G A LOC100128164 0 0 0.003 0 0 0 0 1 0 0 0 0 8.274 105838 chr3 171443819 171443819 T C PLD1 Synonymous SNV G218G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.735 105839 chr18 72997837 72997837 A C rs760376340 TSHZ1 Nonsynonymous SNV T159P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.637 105840 chr18 72997839 72997839 A C rs765887740 TSHZ1 Synonymous SNV T159T 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 0.001 105841 chr1 156628877 156628877 G A rs149321570 BCAN Nonsynonymous SNV R896H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.73 105842 chr3 179301194 179301194 T C rs114929315 ACTL6A Synonymous SNV F360F 0.012 0.008 0.003 7 14 3 0.018 1 0 0 0 0 15.51 105843 chr19 3613682 3613682 G C rs117503839 CACTIN-AS1 0.009 0.013 0.003 10 10 5 0.026 1 0 0 0 0 6.651 105844 chr1 156696974 156696974 C G rs138574933 ISG20L2 Nonsynonymous SNV Q157H 0.004 0 0 0 5 0 0 0 0 0 0 0 3.709 105845 chr19 53678735 53678735 G A rs143559625 ZNF665 Synonymous SNV D35D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 5.485 105846 chr18 77894643 77894660 TCCTGCAGGCCAGATGAC - rs564277619 ADNP2 Q459_G464del 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 105847 chr3 183756681 183756681 C T rs142313073 HTR3D Nonsynonymous SNV A253V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 105848 chr19 58058432 58058432 T G rs147432413 ZNF550 Nonsynonymous SNV T394P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.7 105849 chr19 5711887 5711887 C T rs558986758 LONP1 Synonymous SNV P59P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.82 105850 chr19 572661 572661 G A rs565127256 BSG Synonymous SNV L9L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.534 105851 chr18 12014319 12014319 G A rs749677416 IMPA2 Nonsynonymous SNV R146Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.8 105852 chr19 5778440 5778440 T A rs371169735 CATSPERD Nonsynonymous SNV V717E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 105853 chr19 36395504 36395504 G A TYROBP Synonymous SNV S92S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.44 105854 chr19 58437683 58437683 G A rs7245442 ZNF418 Synonymous SNV S537S 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 8.42 105855 chr19 58483860 58483860 G A rs139303329 C19orf18 Nonsynonymous SNV T80M 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.406 105856 chr3 186257369 186257369 G T rs147971015 CRYGS Nonsynonymous SNV D13E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.71 105857 chr1 158517471 158517471 G A rs150369892 OR6Y1 Nonsynonymous SNV T142I 0.01 0.005 0.003 1 12 2 0.003 1 0 0 0 0 13.26 105858 chr3 186508019 186508019 G A rs144238574 RFC4 Nonsynonymous SNV A303V 0 0 0.003 2 0 0 0.005 1 0 0 0 1 22.6 105859 chr19 5892962 5892962 A G NDUFA11 Nonsynonymous SNV L218S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.014 105860 chr19 3754231 3754231 G A rs911530503 APBA3 Nonsynonymous SNV R242C 0.005 0 0 0 6 0 0 0 0 0 0 0 32 105861 chr19 56953167 56953167 T G rs138567096 ZNF667 Synonymous SNV S399S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.091 105862 chr19 58083865 58083865 C G rs372856157 ZNF416 Synonymous SNV G397G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 105863 chr19 38135618 38135618 T C ZFP30 Nonsynonymous SNV D10G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 105864 chr19 10225118 10225118 C T rs770821566 P2RY11, PPAN-P2RY11 Nonsynonymous SNV R277C 0.017 0.013 0 6 20 5 0.015 0 0 0 0 0 26.2 105865 chr18 21293892 21293892 C A LAMA3 Nonsynonymous SNV F101L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 105866 chr19 6387492 6387492 G A rs145932084 GTF2F1 Synonymous SNV F135F 0 0.003 0 4 0 1 0.01 0 0 0 0 0 13.82 105867 chr1 158687619 158687619 C G rs142108831 OR6K3 Nonsynonymous SNV G96A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.4 105868 chr18 21519309 21519309 C A rs748303848 LAMA3 Nonsynonymous SNV S1330R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 105869 chr19 38706796 38706796 C T rs144762419 DPF1 Synonymous SNV A277A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.96 105870 chr19 38853104 38853104 A G rs138244200 CATSPERG Nonsynonymous SNV E709G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.83 105871 chr19 38991356 38991356 C G rs747434152 RYR1 Synonymous SNV T2478T 0.003 0 0 0 4 0 0 0 0 0 0 0 13.37 105872 chr3 195595164 195595164 G A rs755903649 TNK2 Nonsynonymous SNV L686F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 105873 chr19 57932817 57932817 C A ZNF17 Nonsynonymous SNV L653I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23 105874 chr19 39077209 39077209 C T rs763710371 RYR1 Nonsynonymous SNV T5000M 0.003 0 0 0 4 0 0 0 0 0 0 0 27.1 105875 chr19 7506565 7506565 C G ARHGEF18 Nonsynonymous SNV A136G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.72 105876 chr19 10982575 10982575 C T rs764822141 CARM1 Nonsynonymous SNV S66L 0.015 0.01 0 5 18 4 0.013 0 0 0 0 0 22.2 105877 chr19 7585654 7585654 G C ZNF358 Nonsynonymous SNV S509T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.3 105878 chr19 39399383 39399383 G A rs759042553 NFKBIB Nonsynonymous SNV D242N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 105879 chr3 196674690 196674690 G A rs150517093 PIGZ Nonsynonymous SNV R360W 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 105880 chr19 55993961 55993961 C A rs138315963 ZNF628 Synonymous SNV S467S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 105881 chr18 3134661 3134661 C T rs774778918 MYOM1 Nonsynonymous SNV V791M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 105882 chr19 7987110 7987110 A G rs780676694 SNAPC2 Nonsynonymous SNV K188R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 105883 chr19 58596618 58596618 C G ZSCAN18 Nonsynonymous SNV E187Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.053 105884 chr18 34261473 34261473 G A rs151313792 FHOD3 Nonsynonymous SNV R462Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 31 105885 chr18 3457608 3457608 G A rs2229334 TGIF1 Synonymous SNV P166P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.204 105886 chr19 7506574 7506574 C T rs150370217 ARHGEF18 Nonsynonymous SNV A139V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.416 105887 chr19 7516071 7516071 G A rs368588291 ARHGEF18 Nonsynonymous SNV V350M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.3 105888 chr18 3457695 3457695 C T rs2229335 TGIF1 Synonymous SNV V195V 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign/Likely benign 6.303 105889 chr18 3457776 3457776 T G rs2229336 TGIF1 Synonymous SNV T222T 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign/Likely benign 0.002 105890 chr19 12430462 12430462 G A rs148651180 ZNF563 Nonsynonymous SNV S126F 0.016 0.013 0.003 8 19 5 0.021 1 0 0 0 0 15.58 105891 chr19 12786341 12786341 C T rs759704090 WDR83 Nonsynonymous SNV A268V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 17.34 105892 chr1 16477423 16477423 G C rs147977279 EPHA2 Nonsynonymous SNV L41V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 25.1 105893 chr19 40964447 40964447 C T rs144111604 BLVRB Nonsynonymous SNV E29K 0.004 0 0 0 5 0 0 0 0 0 0 0 22 105894 chr19 856130 856130 C T rs17216663 ELANE Nonsynonymous SNV P257L 0.014 0.018 0.027 7 17 7 0.018 8 0 0 0 0 Benign/Likely benign 18.63 105895 chr3 37363287 37363287 A G rs370950265 GOLGA4 Synonymous SNV L537L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.427 105896 chr19 618732 618732 G C POLRMT Nonsynonymous SNV T1099S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.073 105897 chr19 41306370 41306370 C T rs138443949 RAB4B-EGLN2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.49 105898 chr18 43523997 43523997 T C rs61734402 EPG5 Nonsynonymous SNV Q589R 0.009 0.008 0.01 1 10 3 0.003 3 0 0 0 0 18.21 105899 chr19 41306988 41306988 C G EGLN2 Nonsynonymous SNV P171A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.342 105900 chr19 7987416 7987416 G C SNAPC2 Nonsynonymous SNV E258Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 105901 chr19 41945381 41945381 T C rs201128960 DMAC2 Nonsynonymous SNV N12D 0.007 0 0.017 0 8 0 0 5 0 0 0 0 0.004 105902 chr19 42408493 42408493 G A ARHGEF1 Nonsynonymous SNV V674M 0.003 0 0 0 4 0 0 0 0 0 0 0 28.2 105903 chr3 42567381 42567381 C A rs71315548 VIPR1 Nonsynonymous SNV R52S 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Likely benign 20.5 105904 chr19 7680113 7680113 C T rs372293282 CAMSAP3 Synonymous SNV S905S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.83 105905 chr1 169820999 169820999 T A rs116769474 C1orf112 Synonymous SNV R439R 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 11.28 105906 chr3 436384 436384 A T rs145162591 CHL1 Nonsynonymous SNV T975S 0.009 0.005 0.014 3 11 2 0.008 4 1 0 0 0 Likely benign 24.3 105907 chr19 9005586 9005586 G T rs755305074 MUC16 Nonsynonymous SNV L13274M 0.003 0 0.007 0 3 0 0 2 0 0 0 0 20.5 105908 chr19 16515426 16515426 C T rs148756051 EPS15L1 Synonymous SNV R467R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 13.39 105909 chr19 855587 855587 C T rs17223045 ELANE Synonymous SNV N130N 0.018 0.021 0.02 5 21 8 0.013 6 0 0 0 0 Benign 10.86 105910 chr1 178411872 178411872 C T rs371614679 RASAL2 Synonymous SNV A182A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.9 105911 chr19 6750067 6750067 A G rs755067249 TRIP10 Nonsynonymous SNV Q406R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 105912 chr19 57325940 57325940 A T rs34731776 PEG3 Synonymous SNV S1135S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Likely benign 0.001 105913 chr18 71825466 71825466 C T rs749813509 TIMM21 Synonymous SNV G199G 0.003 0 0 0 3 0 0 0 0 0 0 0 13.72 105914 chr18 74092242 74092242 A G rs117566743 ZNF516 Nonsynonymous SNV C610R 0.022 0.016 0.02 2 26 6 0.005 6 0 0 0 0 15.4 105915 chr1 10705101 10705101 G A rs369472199 CASZ1 Synonymous SNV T1247T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 14.11 105916 chr1 10713518 10713518 T A rs372534488 CASZ1 Nonsynonymous SNV I866F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.2 105917 chr3 51430339 51430339 C T rs147755459 RBM15B Synonymous SNV P503P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.613 105918 chr18 9122625 9122625 C T rs886054124 NDUFV2 Nonsynonymous SNV P139S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 105919 chr19 45975979 45975979 G A rs370863132 FOSB Synonymous SNV P206P 0.003 0 0 0 4 0 0 0 0 0 0 0 11.63 105920 chr3 52514229 52514229 C G rs761799702 NISCH Synonymous SNV A482A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.505 105921 chr3 52535760 52535760 C T rs146810774 STAB1 Nonsynonymous SNV R108W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 105922 chr1 186151390 186151390 A G rs35856562 HMCN1 Nonsynonymous SNV Q5462R 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 Likely benign 21.2 105923 chr3 52556882 52556882 G A rs773021564 STAB1 Nonsynonymous SNV R2279Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 105924 chr1 11087070 11087070 C G MASP2 Nonsynonymous SNV E645Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 105925 chr19 46318312 46318312 C T rs45598433 RSPH6A Synonymous SNV E41E 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 9.182 105926 chr1 110925479 110925479 A T rs150852253 SLC16A4 Nonsynonymous SNV M66K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 105927 chr19 19045154 19045154 G A rs149337386 HOMER3 Synonymous SNV G123G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.068 105928 chr3 52858459 52858459 G A rs142248896 ITIH4 Synonymous SNV N333N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.863 105929 chr19 919924 919924 G C KISS1R Nonsynonymous SNV G186R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 105930 chr1 111731352 111731352 A T rs61756276 DENND2D Synonymous SNV S354S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.007 105931 chr19 4683879 4683880 CT - rs542320845 DPP9-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 105932 chr1 111777575 111777575 A G rs35041930 CHI3L2 Nonsynonymous SNV N116D 0.009 0.018 0.017 3 10 7 0.008 5 0 0 0 0 1.8 105933 chr19 19764664 19764664 C T rs144326145 ATP13A1 Nonsynonymous SNV E677K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.9 105934 chr19 19767872 19767872 C T rs771827569 ATP13A1 Synonymous SNV S279S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 18.38 105935 chr19 19768176 19768176 T G ATP13A1 Nonsynonymous SNV E240A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.9 105936 chr1 19571414 19571414 C T rs748743672 EMC1 Nonsynonymous SNV R69Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 105937 chr19 47774657 47774657 G A rs747721000 CCDC9 Nonsynonymous SNV E440K 0.003 0 0 0 4 0 0 0 0 0 0 0 12.97 105938 chr3 54912798 54912798 C T rs1568983 CACNA2D3-AS1 0 0 0.068 0 0 0 0 20 0 0 0 0 0.094 105939 chr19 932467 932469 GAG - rs745547598 ARID3A E145del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 105940 chr19 10394798 10394798 T C rs369391699 ICAM1 Nonsynonymous SNV F243L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 105941 chr19 9524689 9524689 G A ZNF266 Synonymous SNV A304A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 5.744 105942 chr1 10709185 10709185 C T rs199616232 CASZ1 Nonsynonymous SNV V1034M 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 28.3 105943 chr3 60522685 60522685 C G rs757001991 FHIT Nonsynonymous SNV R4T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.078 105944 chr1 10364260 10364260 A G rs148481786 KIF1B Nonsynonymous SNV E1006G 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign/Likely benign 11.56 105945 chr3 69230213 69230213 G A rs759229825 FRMD4B Synonymous SNV A896A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.341 105946 chr1 10720082 10720082 G A rs771413322 CASZ1 Synonymous SNV Y339Y 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 1.523 105947 chr19 48789818 48789818 T - rs757582647 ZNF114 Y315Ifs*6 0.001 0.003 0 0 1 1 0 0 0 0 0 0 105948 chr19 10886395 10886395 C T rs748069348 DNM2 Synonymous SNV L134L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.49 105949 chr1 11594461 11594461 C T rs77314478 DISP3 Synonymous SNV S1133S 0.011 0.003 0.02 1 13 1 0.003 6 0 0 0 0 14.71 105950 chr19 2733448 2733448 G A rs375373363 SLC39A3 Synonymous SNV T82T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.137 105951 chr19 9046338 9046338 G A rs746293537 MUC16 Nonsynonymous SNV P11765S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.827 105952 chr19 1119964 1119964 G A rs775151184 SBNO2 Nonsynonymous SNV A346V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 105953 chr1 201981848 201981848 G A rs151290080 ELF3 Nonsynonymous SNV G187R 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 9.636 105954 chr1 1133061 1133061 C T rs555101871 TTLL10 Nonsynonymous SNV P619L 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 1.652 105955 chr1 117618192 117618192 C T rs754957264 TTF2 Nonsynonymous SNV A329V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.303 105956 chr3 9034613 9034613 G A rs146843771 SRGAP3 Synonymous SNV Y821Y 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 11 105957 chr19 31770258 31770258 G A rs530960780 TSHZ3 Synonymous SNV N147N 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 3.413 105958 chr19 49216688 49216688 A G rs202026525 MAMSTR Nonsynonymous SNV S194P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.041 105959 chr1 11094894 11094894 C T rs200844905 MASP2 Nonsynonymous SNV A360T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 105960 chr19 49377169 49377169 G A rs750857089 PPP1R15A Nonsynonymous SNV E227K 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 105961 chr19 1272028 1272028 C T CIRBP Synonymous SNV Y160Y 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 1.648 105962 chr19 12866521 12866521 A C rs201904846 BEST2 Synonymous SNV L269L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.334 105963 chr1 1115054 1115054 C T rs912845643 TTLL10 Nonsynonymous SNV R46C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 7.385 105964 chr19 33882250 33882250 A C rs797045185 PEPD Nonsynonymous SNV L327R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Pathogenic 29.6 105965 chr1 1237370 1237370 T C rs762261037 ACAP3 Synonymous SNV K112K 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 11.38 105966 chr4 100231990 100231990 C T rs748618923 ADH1B Synonymous SNV A345A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 105967 chr19 14261969 14261969 G C rs745949089 ADGRL1 Nonsynonymous SNV R1376G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 105968 chr19 50100820 50100820 C T rs189013078 PRR12 Synonymous SNV S1076S 0.01 0 0 6 12 0 0.015 0 0 0 0 0 Benign 12.11 105969 chr19 3546289 3546289 C T rs45476505 MFSD12 Synonymous SNV S377S 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 18.38 105970 chr1 116534839 116534839 G C rs185420236 SLC22A15 Nonsynonymous SNV S92T 0.007 0.008 0.003 6 8 3 0.015 1 0 0 0 0 14.33 105971 chr1 116666802 116666802 G A rs149580249 MAB21L3 Nonsynonymous SNV C102Y 0.003 0 0 0 3 0 0 0 0 0 0 0 12.41 105972 chr19 50864299 50864299 G A rs777593138 NAPSA Synonymous SNV L189L 0.004 0 0 0 5 0 0 0 0 0 0 0 13.04 105973 chr1 11716026 11716026 C T FBXO44 Nonsynonymous SNV T45I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 105974 chr1 1133105 1133105 G A rs764678592 TTLL10 Nonsynonymous SNV D634N 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.027 105975 chr1 145560139 145560139 G A rs150487019 ANKRD35 Nonsynonymous SNV G119R 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 26.7 105976 chr1 146758054 146758054 G A rs139791996 CHD1L Nonsynonymous SNV G496R 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 15.9 105977 chr1 210006578 210006578 C T UTP25 Nonsynonymous SNV P146L 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 13.23 105978 chr1 118483783 118483783 C T rs150881258 WDR3 Nonsynonymous SNV R276W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 105979 chr1 21042033 21042033 T C rs35835983 KIF17 Nonsynonymous SNV R111G 0.006 0.013 0 0 7 5 0 0 0 0 0 0 23.5 105980 chr1 150730336 150730336 T G CTSS Nonsynonymous SNV M83L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 105981 chr1 1168240 1168240 G - rs786200941 B3GALT6 R197Afs*81 0.003 0.008 0 0 3 3 0 0 0 0 0 0 105982 chr1 119466128 119466128 C G rs140463861 TBX15 Synonymous SNV G264G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.93 105983 chr1 117122286 117122286 T A rs151042895 IGSF3 Nonsynonymous SNV D1021V 0.009 0 0.007 1 10 0 0.003 2 0 0 0 0 13.64 105984 chr1 144930869 144930869 C A rs369717518 PDE4DIP Synonymous SNV P280P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.839 105985 chr1 151158034 151158034 C T rs12088079 VPS72 Synonymous SNV A111A 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 13.61 105986 chr1 109477313 109477313 C G rs145636232 CLCC1 Synonymous SNV P360P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.025 105987 chr1 12336504 12336504 G A rs139222925 VPS13D Synonymous SNV Q953Q 0.005 0.016 0.017 1 6 6 0.003 5 0 0 0 0 Benign 2.147 105988 chr4 120221621 120221621 C T rs190403527 C4orf3 Nonsynonymous SNV G24R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 18.43 105989 chr1 151006537 151006537 G A rs3738477 PRUNE1 Nonsynonymous SNV G196S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.3 105990 chr1 218458715 218458715 C A rs114550993 RRP15 Synonymous SNV T19T 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 17.03 105991 chr4 123176363 123176363 T C rs371346554 KIAA1109 Synonymous SNV P2101P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.39 105992 chr4 123200967 123200967 C T KIAA1109 Nonsynonymous SNV L2877F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 105993 chr1 110775554 110775554 C T rs554444279 KCNC4 Nonsynonymous SNV S614L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 105994 chr4 123255666 123255666 C G rs376504934 KIAA1109 Synonymous SNV T3938T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.54 105995 chr1 110882103 110882103 A G rs148173521 RBM15 Nonsynonymous SNV S26G 0.014 0.021 0.014 4 17 8 0.01 4 0 0 0 0 12.83 105996 chr1 145608556 145608556 C T rs115748902 POLR3C Nonsynonymous SNV R97Q 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 Likely benign 23.1 105997 chr1 152081108 152081108 G A rs75981854 TCHH Nonsynonymous SNV R1529W 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 105998 chr1 22207028 22207028 G A rs373299826 HSPG2 Nonsynonymous SNV R676W 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Uncertain significance 34 105999 chr1 152275453 152275453 G A rs3814299 FLG Nonsynonymous SNV S3970L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 106000 chr1 149916617 149916617 C T rs151258278 OTUD7B Synonymous SNV K557K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.91 106001 chr1 152326843 152326843 C T rs78399057 FLG2 Nonsynonymous SNV G1140D 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 1.192 106002 chr1 112308782 112308782 C G rs61752473 DDX20 Nonsynonymous SNV S579C 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 26.6 106003 chr1 14105134 14105142 GAAGATGAT - rs778613386 PRDM2 E81_D83del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 106004 chr4 13548687 13548687 G A rs78949307 LINC01096 0 0 0.034 0 0 0 0 10 0 0 0 0 7.719 106005 chr4 141313800 141313800 A C CLGN Synonymous SNV L477L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 106006 chr1 225267039 225267039 C G DNAH14 Nonsynonymous SNV S852C 0.006 0.005 0 0 7 2 0 0 0 0 0 0 19.54 106007 chr1 155640115 155640115 C T rs41264945 YY1AP1 Nonsynonymous SNV D231N 0.028 0.021 0.027 9 33 8 0.023 8 1 0 0 0 31 106008 chr1 149916838 149916838 G A rs782602473 OTUD7B Nonsynonymous SNV R484W 0.001 0 0 0 1 0 0 0 0 0 0 0 23 106009 chr1 15438826 15438829 TGTG - rs549858554 TMEM51-AS1 0.008 0 0.014 0 9 0 0 4 3 0 2 0 106010 chr1 150131194 150131194 C T rs376618900 PLEKHO1 Nonsynonymous SNV R64W 0.002 0 0 0 2 0 0 0 0 0 0 0 31 106011 chr4 154471259 154471259 C T TMEM131L Nonsynonymous SNV H92Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 106012 chr1 156533433 156533433 G T rs75110454 IQGAP3 Synonymous SNV S177S 0.014 0.023 0.007 3 17 9 0.008 2 0 1 0 0 Benign 13.69 106013 chr1 156551628 156551628 G T rs116035113 TTC24 Nonsynonymous SNV A158S 0.014 0.023 0.007 3 17 9 0.008 2 0 1 0 0 24.2 106014 chr1 109807603 109807603 A G rs765884392 CELSR2 Nonsynonymous SNV N1860D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.48 106015 chr1 155746245 155746245 G C rs146504521 GON4L Nonsynonymous SNV L707V 0.003 0 0.007 7 4 0 0.018 2 0 0 0 0 24 106016 chr1 156642568 156642568 C A rs140134053 NES Nonsynonymous SNV S471I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25 106017 chr19 19010524 19010524 A T rs775154069 COPE Nonsynonymous SNV F246L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 106018 chr1 156849124 156849124 C T rs757891009 NTRK1 Synonymous SNV S666S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 13.46 106019 chr19 55492983 55492983 A T rs140225599 NLRP2 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.027 106020 chr19 55501424 55501424 G A rs117066658 NLRP2 Nonsynonymous SNV A779T 0.008 0.013 0.007 6 9 5 0.015 2 0 0 0 0 Benign 5.298 106021 chr1 120459122 120459122 C T rs150516342 NOTCH2 Nonsynonymous SNV V2075M 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign/Likely benign 11.89 106022 chr19 21281682 21281682 T C rs371673567 ZNF714 Synonymous SNV N36N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 106023 chr1 154842202 154842202 - GCTGCTGCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 106024 chr1 158549449 158549449 C A rs950164 OR10X1 Nonsynonymous SNV A81S 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 4.353 106025 chr1 14107932 14107932 C T rs116517080 PRDM2 Synonymous SNV H1013H 0.013 0.013 0.014 6 15 5 0.015 4 0 0 0 0 7.803 106026 chr1 155161037 155161096 TGTCCGGGGCCGAGGTGACACCATGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGG - MUC1 T355_D374del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 106027 chr1 11273473 11273473 G A rs761539813 MTOR Nonsynonymous SNV R1090C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 106028 chr1 153658297 153658297 G A rs61757359 NPR1 Nonsynonymous SNV G541S 0.009 0.005 0.007 4 11 2 0.01 2 0 0 0 0 28.6 106029 chr19 4364182 4364182 C T rs373084701 SH3GL1 Nonsynonymous SNV R75H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 106030 chr1 228613026 228613026 T C rs146533230 H3-4 Star tloss M1? 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.22 106031 chr1 153914452 153914452 A G rs374634665 DENND4B Synonymous SNV R327R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.297 106032 chr1 159273943 159273943 G A rs2298805 FCER1A Nonsynonymous SNV S101N 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign 22.8 106033 chr1 150444330 150444330 T G rs200042667 RPRD2 Nonsynonymous SNV V943G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.612 106034 chr1 15873341 15873341 C T rs773532978 DNAJC16 Nonsynonymous SNV T280M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.917 106035 chr19 56133479 56133479 G A rs763165240 ZNF784 Nonsynonymous SNV P204S 0.004 0 0 0 5 0 0 0 0 0 0 0 12.68 106036 chr1 161018268 161018268 T C rs148375678 ARHGAP30 Nonsynonymous SNV D671G 0.01 0.01 0 15 12 4 0.038 0 0 0 0 2 14.91 106037 chr1 235969353 235969353 G C rs150636017 LYST Nonsynonymous SNV S1028C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.739 106038 chr1 151262355 151262355 C A rs61818002 ZNF687 Synonymous SNV R946R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 18.14 106039 chr19 56443369 56443369 G A rs146785585 NLRP13 Synonymous SNV A103A 0.004 0 0 0 5 0 0 0 0 0 0 0 4.346 106040 chr1 15988041 15988041 C T rs147909929 RSC1A1 Nonsynonymous SNV P560S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.484 106041 chr4 20598053 20598053 G A rs151150739 SLIT2 Synonymous SNV E1108E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.748 106042 chr1 160648875 160648875 C T rs150535390 CD48 Synonymous SNV T233T 0.006 0.01 0.007 4 7 4 0.01 2 0 0 0 0 10.49 106043 chr1 16070768 16070768 G A rs141529365 TMEM82 Synonymous SNV T150T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.09 106044 chr4 2341282 2341282 C T rs746385064 ZFYVE28 Nonsynonymous SNV G93D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 106045 chr19 35500227 35500227 C T rs201650116 GRAMD1A Synonymous SNV N71N 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 6.209 106046 chr1 1235416 1235416 G A rs147197474 ACAP3 Synonymous SNV F200F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.828 106047 chr19 57132875 57132875 G A rs141566979 ZNF71 Nonsynonymous SNV A74T 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 6.097 106048 chr1 14107290 14107290 C T rs758621179 PRDM2 Synonymous SNV S799S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.511 106049 chr1 14108879 14108879 C G rs760841475 PRDM2 Nonsynonymous SNV P1329R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.64 106050 chr19 36361839 36361839 G A rs148450806 APLP1 Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.925 106051 chr1 155006142 155006142 C G rs762360737 DCST2 Nonsynonymous SNV L12F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 106052 chr1 159033441 159033441 T A rs765877113 AIM2 Synonymous SNV I175I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 106053 chr1 159033442 159033442 A G rs751076810 AIM2 Nonsynonymous SNV I175T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 106054 chr4 39482942 39482942 A C rs10010309 LOC401127 0 0 0.037 0 0 0 0 11 0 0 4 0 1.041 106055 chr4 39483194 39483194 C T rs28480393 LOC401127 0 0 0.061 0 0 0 0 18 0 0 1 0 3.389 106056 chr4 39558062 39558062 T C rs776610942 SMIM14 Nonsynonymous SNV T85A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.802 106057 chr1 159410217 159410217 G A rs41264477 OR10J1 Synonymous SNV L212L 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 6.707 106058 chr1 170964537 170964537 A T rs201544538 MROH9 Nonsynonymous SNV Q401L 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 25.4 106059 chr1 247654729 247654729 A C rs199632500 OR2W5 Nonsynonymous SNV Q100H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.124 106060 chr1 247654909 247654909 T C rs201256804 OR2W5 Synonymous SNV C160C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.972 106061 chr1 247655343 247655343 C T rs201897149 OR2W5 Nonsynonymous SNV S305F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.398 106062 chr4 42445607 42445607 G A rs140420171 ATP8A1 Nonsynonymous SNV P1018L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.7 106063 chr1 162558569 162558569 A G UAP1 Nonsynonymous SNV K372R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 106064 chr1 247768948 247768948 C T rs61751929 OR2G3 Nonsynonymous SNV P21S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 25.5 106065 chr1 247769378 247769378 T C rs6658792 OR2G3 Nonsynonymous SNV L164S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 106066 chr1 247769659 247769659 G A rs12072304 OR2G3 Nonsynonymous SNV V258M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.95 106067 chr1 169761897 169761897 T G rs139579144 METTL18 Nonsynonymous SNV S314R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.762 106068 chr19 375735 375735 T C rs61731231 THEG Nonsynonymous SNV D79G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.004 106069 chr1 17332025 17332025 T C rs200816691 ATP13A2 Synonymous SNV P44P 0.004 0.01 0.003 0 5 4 0 1 1 0 0 0 Benign/Likely benign 7.743 106070 chr19 59063075 59063075 C T rs200224355 CHMP2A Nonsynonymous SNV A204T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 23.2 106071 chr19 3816817 3816817 A G rs188290331 ZFR2 Nonsynonymous SNV L653P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 106072 chr1 247921005 247921005 T G rs374622880 OR1C1 Nonsynonymous SNV Q235P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 106073 chr1 161168188 161168188 G A rs144928037 ADAMTS4 Nonsynonymous SNV A77V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 5.999 106074 chr4 56697597 56697597 T A rs6848009 EXOC1L Nonsynonymous SNV D73E 0 0 0.034 0 0 0 0 10 0 0 1 0 15.47 106075 chr1 158300777 158300777 C A CD1B Nonsynonymous SNV G46V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.71 106076 chr4 57180920 57180920 C A rs77927518 KIAA1211 Nonsynonymous SNV Q418K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 106077 chr19 643557 643557 C T rs202173750 FGF22 Nonsynonymous SNV A148V 0.004 0 0 0 5 0 0 0 0 0 0 0 23.6 106078 chr4 57219595 57219595 G A rs75769701 AASDH Synonymous SNV I32I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.179 106079 chr4 57244436 57244438 TTC - rs149367967 AASDH E82del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 106080 chr4 57265555 57265555 T C rs35420817 PPAT Synonymous SNV P342P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.005 106081 chr19 38948814 38948814 G T RYR1 Synonymous SNV V683V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.1 106082 chr19 38973969 38973969 C T rs754476250 RYR1 Nonsynonymous SNV R1583C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 106083 chr1 154917551 154917551 C T rs79526479 PBXIP1 Synonymous SNV A560A 0.014 0.018 0.01 4 17 7 0.01 3 0 0 0 0 13.99 106084 chr1 170952652 170952652 C A rs112394419 MROH9 Nonsynonymous SNV Q236K 0.007 0.003 0.01 6 8 1 0.015 3 0 0 0 0 0.001 106085 chr4 6711290 6711290 C T rs141796381 MRFAP1L1 Nonsynonymous SNV D23N 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 26.1 106086 chr4 676125 676125 G C rs111874868 SLC49A3 Nonsynonymous SNV S316R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.4 106087 chr1 166818686 166818686 C T rs61745126 POGK Synonymous SNV L172L 0.008 0.003 0.007 3 9 1 0.008 2 0 0 0 0 Benign 12.85 106088 chr19 4891373 4891373 A C rs370657089 ARRDC5 Nonsynonymous SNV S224R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 106089 chr1 176738849 176738849 T G PAPPA2 Nonsynonymous SNV F1477C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 106090 chr1 155887361 155887361 G A rs780398562 KHDC4 Nonsynonymous SNV P457S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.25 106091 chr1 169099280 169099280 A C rs61803314 ATP1B1 Synonymous SNV P200P 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Benign 0.084 106092 chr4 70620451 70620451 G T rs148271036 SULT1B1 Synonymous SNV R72R 0 0 0.014 0 0 0 0 4 0 0 0 0 5.067 106093 chr19 407463 407463 G A rs146964261 C2CD4C Nonsynonymous SNV T300M 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 16.4 106094 chr19 40875860 40875860 G A rs374184677 PLD3 Nonsynonymous SNV V159M 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 25.3 106095 chr19 40947910 40947910 A C rs921684707 SERTAD3 Synonymous SNV L26L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.003 106096 chr1 175375355 175375355 T C rs147204644 TNR Nonsynonymous SNV T166A 0.007 0.021 0.01 4 8 8 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.74 106097 chr1 176679311 176679311 T C rs61745526 PAPPA2 Nonsynonymous SNV L1217P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 17.4 106098 chr1 171505321 171505321 A G rs138220849 PRRC2C Nonsynonymous SNV M731V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.76 106099 chr1 171527129 171527129 A G rs150114134 PRRC2C Nonsynonymous SNV I1958V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.02 106100 chr19 8159439 8159439 C T rs147423270 FBN3 Synonymous SNV E1932E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13 106101 chr4 77662123 77662123 T C rs558525233 SHROOM3 Nonsynonymous SNV S933P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.05 106102 chr1 166890451 166890451 G A ILDR2 Synonymous SNV R459R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.518 106103 chr1 27226797 27226797 C G rs143636280 GPATCH3 Nonsynonymous SNV C46S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 106104 chr4 78804608 78804608 A G rs144659187 MRPL1 Nonsynonymous SNV Q119R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 106105 chr1 179064350 179064350 A G rs759988377 TOR3A Synonymous SNV S397S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 5.781 106106 chr1 17313300 17313300 C A ATP13A2 Stop gain E1035X 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 106107 chr1 27875800 27875800 T G rs150289747 AHDC1 Nonsynonymous SNV T943P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 22.5 106108 chr1 28477142 28477142 G C PTAFR Nonsynonymous SNV R131G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 106109 chr4 79792080 79792080 C G BMP2K Nonsynonymous SNV H459D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.705 106110 chr4 79792081 79792081 A T BMP2K Nonsynonymous SNV H459L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.912 106111 chr4 79792088 79792088 G A BMP2K Synonymous SNV Q461Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.481 106112 chr4 80898843 80898843 C T rs185151361 ANTXR2 Nonsynonymous SNV A454T 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 Likely benign 34 106113 chr1 180044304 180044304 A G rs139352498 CEP350 Nonsynonymous SNV I1905M 0.017 0.008 0.017 3 20 3 0.008 5 0 0 0 0 Likely benign 1.343 106114 chr19 877120 877120 G A rs761072743 MED16 Nonsynonymous SNV R472W 0.004 0 0 0 5 0 0 0 0 0 0 0 29.2 106115 chr1 3102752 3102752 C T rs779535977 PRDM16 Nonsynonymous SNV A34V 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 23.7 106116 chr1 170985471 170985471 G T rs145219287 MROH9 Nonsynonymous SNV M634I 0.015 0.021 0.014 7 18 8 0.018 4 0 0 0 0 13.48 106117 chr1 18152345 18152345 C T rs370630395 ACTL8 Synonymous SNV T144T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.63 106118 chr1 171509732 171509732 A G rs146744342 PRRC2C Nonsynonymous SNV K1041E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.064 106119 chr1 179271894 179271894 C T rs758025226 SOAT1 Synonymous SNV D25D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.431 106120 chr1 19490863 19490863 G A rs140267853 UBR4 Synonymous SNV N1528N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.331 106121 chr19 44791436 44791436 T C ZNF235 Nonsynonymous SNV K718E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 106122 chr4 88536883 88536885 TAG - rs750849673 DSPP S1025del 0 0 0.01 0 0 0 0 3 0 0 1 0 106123 chr4 88536887 88536919 AGTGACAGCAGCAACAGCAGTGACAGCAGCGAT - DSPP D1026_S1036del 0 0 0.01 0 0 0 0 3 0 0 1 0 106124 chr1 185240506 185240506 C T rs149583877 SWT1 Synonymous SNV F831F 0.009 0.01 0.003 3 11 4 0.008 1 0 1 0 0 16.86 106125 chr19 52130816 52130816 C G SIGLEC5 Nonsynonymous SNV S394T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 106126 chr1 186276877 186276900 ACCCCTAAGGAGCCTGCTCCAACT - PRG4 P562_E569del 0.014 0.01 0 1 16 4 0.003 0 1 1 0 0 106127 chr4 89358080 89358080 A C rs77703113 HERC6 Nonsynonymous SNV D778A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.978 106128 chr1 20005661 20005661 C A rs8192533 HTR6 Nonsynonymous SNV P375T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.16 106129 chr1 18152530 18152530 T G rs142430342 ACTL8 Nonsynonymous SNV V206G 0.003 0 0 0 4 0 0 0 0 0 0 0 1.751 106130 chr1 201827659 201827659 A G IPO9 Nonsynonymous SNV K436E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 106131 chr1 1890559 1890559 C T rs146150343 CFAP74 Synonymous SNV S617S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.628 106132 chr1 19027172 19027172 G A rs746781983 PAX7 Nonsynonymous SNV R271H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 106133 chr1 202117809 202117809 C T rs374490952 PTPN7 Synonymous SNV T336T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.89 106134 chr1 177917055 177917055 C T rs200132735 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV G182E 0.01 0 0 4 12 0 0.01 0 0 0 0 1 Likely benign 33 106135 chr1 202710733 202710733 C G rs112284833 KDM5B Nonsynonymous SNV E858Q 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 25.3 106136 chr1 179304709 179304709 A G rs149631274 SOAT1 Synonymous SNV E24E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.945 106137 chr19 45477731 45477731 T C rs11541461 CLPTM1 Synonymous SNV F101F 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 9.741 106138 chr19 45567723 45567723 C A rs374887088 CLASRP Nonsynonymous SNV A353D 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 14.12 106139 chr19 45644596 45644596 T G rs760901850 PPP1R37 Nonsynonymous SNV F155C 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 106140 chr5 1063051 1063051 G A rs147015531 MIR4635 0 0 0.01 0 0 0 0 3 0 0 0 0 4.89 106141 chr19 9073855 9073855 T A rs373267398 MUC16 Nonsynonymous SNV I4531F 0.004 0 0 0 5 0 0 0 0 0 0 0 5.923 106142 chr19 9082960 9082960 G A rs201674472 MUC16 Nonsynonymous SNV S2952L 0.004 0 0 0 5 0 0 0 0 0 0 0 11.47 106143 chr1 186141181 186141181 C G rs75161007 HMCN1 Nonsynonymous SNV H5244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 106144 chr19 45895342 45895342 A G rs753503062 PPP1R13L Synonymous SNV P537P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.908 106145 chr19 46124743 46124743 C T rs916564781 EML2 Nonsynonymous SNV E216K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.1 106146 chr1 205053407 205053407 C A rs145742596 TMEM81 Synonymous SNV G14G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 15.47 106147 chr1 202571620 202571620 G A rs146524805 SYT2 Synonymous SNV G173G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.94 106148 chr5 118829563 118829563 A G rs149283499 HSD17B4 Nonsynonymous SNV M246V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.837 106149 chr19 47422307 47422307 T C rs112108478 ARHGAP35 Synonymous SNV L125L 0.012 0.008 0.003 5 14 3 0.013 1 0 0 0 0 Benign 0.001 106150 chr1 183514098 183514098 C A rs34426362 SMG7 Nonsynonymous SNV P632H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 28.4 106151 chr5 127419881 127419881 A C rs557916029 SLC12A2 Nonsynonymous SNV S79R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 106152 chr1 198665917 198665917 C G rs17612648 PTPRC Synonymous SNV P59P 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 Benign/Likely benign 14.82 106153 chr19 55045079 55045079 C G rs75596662 KIR3DX1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.274 106154 chr5 131915022 131915022 G A rs28903086 RAD50 Nonsynonymous SNV V127I 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 106155 chr1 20980758 20980758 A G rs199782279 DDOST Nonsynonymous SNV F268S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 106156 chr5 132150010 132150010 C T rs541082078 SOWAHA Nonsynonymous SNV R233W 0.003 0 0.017 1 4 0 0.003 5 0 0 0 0 31 106157 chr1 200534712 200534712 C T rs149616430 KIF14 Synonymous SNV S758S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 19.44 106158 chr1 200574423 200574423 C T rs144936292 KIF14 Nonsynonymous SNV M87I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 33 106159 chr1 209880409 209880409 T A rs759366094 HSD11B1 Synonymous SNV T151T 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 13.46 106160 chr19 55435140 55435140 T C rs7256020 NLRP7 Nonsynonymous SNV T971A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.001 106161 chr1 20640994 20640994 G T VWA5B1 Nonsynonymous SNV A158S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 106162 chr1 109793170 109793170 A G CELSR2 Nonsynonymous SNV R157G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.088 106163 chr5 132202683 132202683 A G rs201606663 UQCRQ Nonsynonymous SNV N37S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 106164 chr1 200842633 200842633 G T rs10920056 GPR25 Synonymous SNV A156A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.78 106165 chr1 200860731 200860731 G A rs141245080 INAVA Synonymous SNV R21R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.86 106166 chr1 201175222 201175222 A G rs180741982 IGFN1 Nonsynonymous SNV K401E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 106167 chr1 203276515 203276515 G C rs576022566 BTG2 Synonymous SNV L142L 0.003 0 0 0 4 0 0 0 0 0 0 0 1.666 106168 chr1 201176011 201176011 G C rs79876432 IGFN1 Nonsynonymous SNV A664P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.26 106169 chr5 135469770 135469770 T C rs3764939 SMAD5-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 12.45 106170 chr5 136834138 136834138 T C rs111393448 SPOCK1 Nonsynonymous SNV N37S 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 Benign 25.8 106171 chr1 201178688 201178688 A G IGFN1 Nonsynonymous SNV E1556G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 106172 chr1 201178689 201178689 A G IGFN1 Synonymous SNV E1556E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 106173 chr1 110884030 110884030 C T rs150900331 RBM15 Nonsynonymous SNV A668V 0.021 0.031 0.017 5 25 12 0.013 5 1 1 0 0 6.19 106174 chr5 13766120 13766120 A G rs138441172 DNAH5 Synonymous SNV L3356L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.577 106175 chr19 55757042 55757042 G C PPP6R1 Nonsynonymous SNV P78A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 106176 chr19 49364675 49364675 G A rs754675534 PLEKHA4 Nonsynonymous SNV R117W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 106177 chr1 215792624 215792624 C G KCTD3 Stop gain S624X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 106178 chr1 51754619 51754619 T C rs138509677 TTC39A Nonsynonymous SNV K78R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.58 106179 chr5 138729939 138729939 C T rs529296013 PROB1 Nonsynonymous SNV E278K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 106180 chr1 216373337 216373337 G A rs141339026 USH2A Nonsynonymous SNV P1148L 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 Uncertain significance 31 106181 chr1 201282334 201282334 G A rs34626929 PKP1 Nonsynonymous SNV R116H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.8 106182 chr19 49703651 49703651 A T rs140799936 TRPM4 Stop gain K560X 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 54 106183 chr1 197032060 197032060 G A rs776011760 F13B Synonymous SNV T64T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.918 106184 chr1 197074071 197074071 C T rs576920584 ASPM Nonsynonymous SNV R1437H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.03 106185 chr1 197509099 197509099 C T rs571739697 DENND1B Nonsynonymous SNV A504T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 5.924 106186 chr19 50154607 50154607 C T rs146455893 SCAF1 Nonsynonymous SNV R321C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.9 106187 chr1 55060363 55060363 C T rs551140485 ACOT11 Synonymous SNV G202G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.83 106188 chr5 140176842 140176842 C A rs144400963 PCDHA2 Nonsynonymous SNV P765T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.965 106189 chr1 202092209 202092209 C G GPR37L1 Nonsynonymous SNV Q40E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.133 106190 chr1 206821166 206821166 G A rs199918563 DYRK3 Nonsynonymous SNV R208Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.5 106191 chr1 22202835 22202835 T A rs557553229 HSPG2 Nonsynonymous SNV T965S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 6.817 106192 chr1 20073703 20073703 C T rs150401450 TMCO4 Nonsynonymous SNV R189H 0.011 0.01 0.01 2 13 4 0.005 3 0 0 0 0 35 106193 chr19 50434167 50434167 G A rs150212158 ATF5 Synonymous SNV G20G 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 9.021 106194 chr5 140237867 140237867 G T rs782040852 PCDHA10 Nonsynonymous SNV S745I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 106195 chr1 209800287 209800287 C T rs753412479 LAMB3 Nonsynonymous SNV G508S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 32 106196 chr5 140591 140591 A G rs143062800 PLEKHG4B Nonsynonymous SNV S413G 0.003 0 0.01 0 3 0 0 3 0 0 0 0 0.005 106197 chr1 203768174 203768174 G A rs752573113 ZBED6 Synonymous SNV A508A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.979 106198 chr1 59004762 59004762 G A rs75220198 OMA1 Nonsynonymous SNV H69Y 0.014 0.016 0.003 3 16 6 0.008 1 0 0 0 0 Benign 0.001 106199 chr1 20998573 20998573 G A rs35595233 KIF17 Synonymous SNV L860L 0.009 0.003 0.007 3 10 1 0.008 2 0 0 1 1 11.01 106200 chr1 225152253 225152253 C T rs41267349 DNAH14 Nonsynonymous SNV P97L 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 18.86 106201 chr19 5111386 5111386 A - rs200439733 KDM4B T373Pfs*32 0.002 0 0 0 2 0 0 0 0 0 0 0 106202 chr19 51136049 51136049 C T rs140785262 SYT3 Synonymous SNV L56L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.19 106203 chr1 204210581 204210581 C T rs151293148 PLEKHA6 Synonymous SNV S777S 0.005 0.01 0 4 6 4 0.01 0 0 1 0 0 15.54 106204 chr19 5131955 5131955 C T rs45459493 KDM4B Synonymous SNV L615L 0.009 0.005 0.014 3 10 2 0.008 4 0 0 0 0 13.44 106205 chr1 225506340 225506340 C T rs988829791 DNAH14 Nonsynonymous SNV A3099V 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 26.6 106206 chr1 201972270 201972270 G A rs139998616 MIR6740 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 4.132 106207 chr1 12343493 12343493 T A rs144311414 VPS13D Nonsynonymous SNV S1778R 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 15.24 106208 chr1 12393361 12393361 G A VPS13D Nonsynonymous SNV R2789Q 0.003 0 0 0 4 0 0 0 0 0 0 0 26.8 106209 chr1 202092155 202092155 G A rs561115649 GPR37L1 Nonsynonymous SNV V22I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.371 106210 chr5 143249 143249 G C rs115149634 PLEKHG4B Nonsynonymous SNV R522P 0.003 0 0.01 0 4 0 0 3 0 0 0 0 2.314 106211 chr1 20305003 20305003 G A rs11573162 PLA2G2A Nonsynonymous SNV H19Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.563 106212 chr5 148808474 148808474 C T rs13158382 CARMN 0 0 0.027 0 0 0 0 8 0 0 0 0 10.17 106213 chr1 204411723 204411723 G T rs61763420 PIK3C2B Nonsynonymous SNV F1029L 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 22.5 106214 chr1 145562330 145562330 T - rs782336805 ANKRD35 V583Gfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 106215 chr1 147095670 147095670 G A rs587670636 BCL9 Nonsynonymous SNV R1064Q 0.002 0 0 0 2 0 0 0 0 0 0 0 17.57 106216 chr19 52376092 52376092 G T ZNF577 Stop gain S384X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 106217 chr1 223402681 223402681 C T rs150564478 SUSD4 Synonymous SNV P258P 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 17.6 106218 chr1 206858646 206858646 C G rs17041931 MAPKAPK2 Synonymous SNV P24P 0.017 0.01 0.01 5 20 4 0.013 3 2 0 1 2 3.764 106219 chr1 213046099 213046099 T A FLVCR1 Stop gain Y321X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 106220 chr19 6187680 6187680 G A rs17851959 ACSBG2 Nonsynonymous SNV G584D 0.005 0.008 0.007 13 6 3 0.033 2 0 0 0 1 0.007 106221 chr19 6187686 6187686 G A rs17851960 ACSBG2 Nonsynonymous SNV G586D 0.005 0.008 0.007 13 6 3 0.033 2 0 0 0 1 25 106222 chr1 207647648 207647648 A C rs141755970 CR2 Nonsynonymous SNV K709T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.897 106223 chr1 226825383 226825383 G A rs144186587 ITPKB Synonymous SNV H874H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.43 106224 chr1 230883448 230883448 G A rs202096741 CAPN9 Nonsynonymous SNV R69Q 0.013 0.01 0 4 15 4 0.01 0 0 0 0 0 33 106225 chr1 214814804 214814804 A G rs76696551 CENPF Synonymous SNV Q1041Q 0.006 0 0 5 7 0 0.013 0 0 0 0 0 Benign 0.038 106226 chr1 214815116 214815116 A T rs61732030 CENPF Nonsynonymous SNV E1145D 0.006 0 0 5 7 0 0.013 0 0 0 0 0 11.16 106227 chr1 214818021 214818021 A G rs11811736 CENPF Nonsynonymous SNV N1703S 0.006 0 0 5 7 0 0.013 0 0 0 0 0 0.001 106228 chr1 20964505 20964505 G C rs143204084 PINK1 Nonsynonymous SNV K186N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.823 106229 chr1 87026002 87026002 C T rs55712824 CLCA4 Nonsynonymous SNV L137F 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 3.266 106230 chr1 22149897 22149897 G A rs62642502 HSPG2 Nonsynonymous SNV S4364L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 20.2 106231 chr1 236702306 236702306 C T rs140356195 LGALS8 Nonsynonymous SNV R88W 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 19.42 106232 chr19 7687428 7687428 G A rs4134853 XAB2 Synonymous SNV L497L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.4 106233 chr19 7707702 7707702 C T rs201293382 STXBP2 Nonsynonymous SNV T315M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.6 106234 chr5 172395582 172395582 G A rs139271401 RPL26L1 Nonsynonymous SNV V97M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 106235 chr1 216420552 216420552 A G rs745314118 USH2A Synonymous SNV H728H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.479 106236 chr1 89728450 89728450 T A rs758125506 GBP5 Stop gain K461X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 106237 chr1 223116579 223116579 G A rs143316612 DISP1 Synonymous SNV T138T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.51 106238 chr5 176832166 176832166 G C rs35515200 F12 Nonsynonymous SNV L140V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 13.16 106239 chr1 2409141 2409141 G A rs138378287 PLCH2 Nonsynonymous SNV R61Q 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 1.491 106240 chr1 224563505 224563505 T C CNIH4 Nonsynonymous SNV L87S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 106241 chr1 156508792 156508792 T C rs79402045 IQGAP3 Synonymous SNV T1030T 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 7.899 106242 chr1 231155759 231155759 G A rs150537705 FAM89A Synonymous SNV Y135Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 106243 chr1 231902983 231902983 G A DISC1 Nonsynonymous SNV D106N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 106244 chr1 22205601 22205601 T C rs143736974 HSPG2 Nonsynonymous SNV N787S 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 106245 chr1 24389690 24389690 G A rs140762098 MYOM3 Synonymous SNV T1232T 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 10.64 106246 chr19 8660990 8660990 G A rs782693285 ADAMTS10 Nonsynonymous SNV S435F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 106247 chr1 92946296 92946296 T C rs114464352 GFI1 Synonymous SNV A216A 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 0.118 106248 chr1 156851285 156851285 C T rs778520978 NTRK1 Nonsynonymous SNV R742W 0.003 0.013 0 0 3 5 0 0 0 0 0 0 Uncertain significance 34 106249 chr1 237058726 237058726 G A rs142113735 MTR Synonymous SNV L1107L 0.017 0.016 0.007 1 20 6 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 106250 chr19 55805394 55805394 C T rs150433882 BRSK1 Synonymous SNV D156D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.81 106251 chr1 157738374 157738374 G C rs74608430 FCRL2 Nonsynonymous SNV S238C 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 24.9 106252 chr5 179729440 179729440 C G rs185799471 GFPT2 Nonsynonymous SNV V663L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.6 106253 chr1 157805912 157805912 A C CD5L Nonsynonymous SNV L30R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 106254 chr1 223991126 223991126 C T rs376987408 TP53BP2 Synonymous SNV L226L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.41 106255 chr1 235967852 235967852 G A rs74861744 LYST Synonymous SNV L1169L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.36 106256 chr1 235973370 235973370 T C rs753002915 LYST Nonsynonymous SNV M250V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.795 106257 chr1 236433208 236433208 T G rs35648587 ERO1B Nonsynonymous SNV K63N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.64 106258 chr1 15844718 15844718 G A rs2308941 CASP9 Nonsynonymous SNV T102I 0.007 0.008 0.024 1 8 3 0.003 7 0 0 0 0 3.568 106259 chr1 246887744 246887744 C T rs147018766 SCCPDH Nonsynonymous SNV P7L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 18.5 106260 chr1 247150812 247150812 C - rs540324680 ZNF695 L335Ffs*33 0.002 0.003 0 0 2 1 0 0 0 0 0 0 106261 chr1 228504653 228504653 A G rs764557864 OBSCN Nonsynonymous SNV D4510G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.61 106262 chr1 99772131 99772131 G A rs140502531 PLPPR4 Synonymous SNV G561G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.14 106263 chr1 228559007 228559007 C T rs376162832 OBSCN Nonsynonymous SNV T6843I 0.005 0 0 0 6 0 0 0 0 0 0 0 7.626 106264 chr5 31410923 31410923 G A rs61748189 DROSHA Synonymous SNV Y1162Y 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 Benign 8.984 106265 chr1 237774118 237774118 G A rs79811945 RYR2 Synonymous SNV P1580P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.02 106266 chr1 227946805 227946805 C T rs143092410 SNAP47 Nonsynonymous SNV P203S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.58 106267 chr1 228109247 228109247 C T rs145836311 WNT9A Nonsynonymous SNV R357H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 106268 chr1 228346693 228346693 C T rs200334298 GJC2 Nonsynonymous SNV H412Y 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 0.45 106269 chr1 15905363 15905363 G T rs41270259 AGMAT Nonsynonymous SNV N237K 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 23.4 106270 chr1 159785427 159785427 C T rs140105569 FCRL6 Synonymous SNV S427S 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 Benign 11.31 106271 chr5 37153929 37153929 G A rs114126795 CPLANE1 Synonymous SNV D2708D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign/Likely benign 7.229 106272 chr5 37180241 37180241 T C rs765842074 CPLANE1 Nonsynonymous SNV N1872S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 106273 chr5 38438505 38438505 G C rs35767836 EGFLAM Nonsynonymous SNV E570D 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 8.208 106274 chr1 24484004 24484004 A G IFNLR1 Synonymous SNV T393T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.182 106275 chr1 161335431 161335431 C T rs149688361 CFAP126 Nonsynonymous SNV R78Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 106276 chr1 22902992 22902992 A G rs760851429 EPHA8 Nonsynonymous SNV I148V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 106277 chr1 246727672 246727672 G A rs34587495 TFB2M Synonymous SNV D126D 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 6.247 106278 chr19 5783166 5783166 C T rs142966371 PRR22 Synonymous SNV E364E 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.136 106279 chr1 248569995 248569995 G A OR2T1 Nonsynonymous SNV V234I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.95 106280 chr5 43277355 43277355 C T rs55930700 NIM1K Synonymous SNV S163S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 12.07 106281 chr20 19937289 19937289 C T rs368413043 RIN2 Synonymous SNV S63S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 10.44 106282 chr19 57967640 57967641 AA - rs200574657 VN1R1 L72Nfs*22 0.001 0 0 1 1 0 0.003 0 0 0 0 0 106283 chr20 19981421 19981421 A T rs375395451 RIN2 Synonymous SNV T843T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 0.004 106284 chr1 26496632 26496632 C T rs76775439 ZNF593 Nonsynonymous SNV P53L 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 11.9 106285 chr1 26515416 26515416 G A rs61762998 CNKSR1 Nonsynonymous SNV R622H 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 22.4 106286 chr1 167298535 167298535 A T POU2F1 Nonsynonymous SNV Y7F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.66 106287 chr1 167849383 167849383 C T rs146056821 ADCY10 Nonsynonymous SNV V243I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 106288 chr19 58453324 58453324 C A rs10414058 ZNF256 Synonymous SNV T284T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 106289 chr19 58570640 58570640 G T rs557281454 ZNF135 Nonsynonymous SNV G11C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.361 106290 chr19 58571371 58571371 A T rs151276756 ZNF135 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 2.523 106291 chr1 2529713 2529713 C T rs766629664 MMEL1 Nonsynonymous SNV R402H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 106292 chr5 60214128 60214128 A G rs4647088 ERCC8 Synonymous SNV D121D 0.007 0.01 0.037 3 8 4 0.008 11 0 0 0 0 Benign 16.21 106293 chr20 25493588 25493588 C A rs754853839 NINL Nonsynonymous SNV R111L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 106294 chr5 60224690 60224690 C A ERCC8 0 0 0.003 0 0 0 0 1 0 0 0 0 25 106295 chr19 58908185 58908185 T C rs13345602 RNF225 Synonymous SNV P243P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.026 106296 chr19 58908297 58908297 G A rs61743678 RNF225 Nonsynonymous SNV D281N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.9 106297 chr5 61875504 61875504 T C rs764678115 LRRC70 Nonsynonymous SNV L80S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 106298 chr1 32089165 32089165 C T rs76500934 HCRTR1 Synonymous SNV R260R 0.001 0.003 0 7 1 1 0.018 0 0 0 0 0 13.23 106299 chr19 58967106 58967106 G A rs143385944 ZNF324B Synonymous SNV V265V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.594 106300 chr19 58983287 58983287 G A rs10426430 ZNF324 Synonymous SNV T476T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.453 106301 chr1 236908011 236908011 C T rs34785693 ACTN2 Synonymous SNV F447F 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Benign/Likely benign 19.74 106302 chr20 3128567 3128567 G A rs746148322 FASTKD5 Stop gain R384X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 106303 chr1 24669399 24669399 C G rs763522239 GRHL3 Nonsynonymous SNV L389V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 106304 chr1 3329213 3329213 G A rs201904226 PRDM16 Nonsynonymous SNV G818S 0.016 0.016 0.01 7 19 6 0.018 3 0 0 0 0 Benign/Likely benign 9.063 106305 chr1 17312586 17312586 G A rs189334432 ATP13A2 Nonsynonymous SNV P1124L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Uncertain significance 12.66 106306 chr1 246810459 246810459 G T rs150502545 CNST Nonsynonymous SNV G319V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.91 106307 chr1 33985215 33985215 G A CSMD2 Nonsynonymous SNV T3456I 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 27.8 106308 chr19 6366373 6366373 C G CLPP Nonsynonymous SNV I220M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.4 106309 chr1 242022009 242022009 G A rs61750993 EXO1 Nonsynonymous SNV D249N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.7 106310 chr1 175067538 175067538 G A rs147467900 TNN Synonymous SNV P642P 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 10.15 106311 chr5 71492638 71492638 G A rs145061898 MAP1B Synonymous SNV T1026T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.812 106312 chr1 23279651 23279651 A T rs12735075 LACTBL1 Nonsynonymous SNV L542Q 0.012 0.013 0.007 1 14 5 0.003 2 0 0 0 0 25.8 106313 chr20 32664866 32664866 G A rs11538302 RALY Nonsynonymous SNV G215S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.049 106314 chr20 32664878 32664880 GGT - rs539352667 RALY G222del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 106315 chr20 33442648 33442648 T C rs141899095 GGT7 Nonsynonymous SNV N394S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 106316 chr1 27426875 27426875 T C rs140754742 SLC9A1 Nonsynonymous SNV I791V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 106317 chr1 248004662 248004662 G A rs61748724 OR11L1 Synonymous SNV C179C 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 7.857 106318 chr1 3751634 3751634 G A rs138897239 CEP104 Nonsynonymous SNV T447M 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Benign 12.71 106319 chr1 27950303 27950303 C T rs371790198 FGR Nonsynonymous SNV R42Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.316 106320 chr5 76932809 76932809 G A rs148662448 OTP Nonsynonymous SNV A95V 0.006 0.008 0.014 8 7 3 0.021 4 0 0 0 0 21.3 106321 chr1 29313973 29313973 G A rs75060926 EPB41 Synonymous SNV V8V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.917 106322 chr1 38512086 38512086 T G rs796188845 POU3F1 Synonymous SNV G110G 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 2.541 106323 chr1 29475386 29475386 T G rs148338436 SRSF4 Synonymous SNV R341R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.593 106324 chr1 39879591 39879591 G A rs533696146 KIAA0754 Synonymous SNV P1218P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.936 106325 chr5 78379449 78379449 A G rs145099848 BHMT2 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 23.7 106326 chr1 29587363 29587363 C T rs115945321 PTPRU Synonymous SNV D364D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.31 106327 chr1 35351327 35351327 T C rs888371668 DLGAP3 Nonsynonymous SNV I556V 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 12.84 106328 chr1 36211107 36211107 C A rs763311404 CLSPN Nonsynonymous SNV G907C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.8 106329 chr1 36636835 36636835 C T rs2296266 MAP7D1 Nonsynonymous SNV R104W 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 32 106330 chr1 33502373 33502373 C T rs371268140 AK2 Synonymous SNV V19V 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 17.21 106331 chr5 82500734 82500734 G T rs3734091 XRCC4 Nonsynonymous SNV A247S 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 13.58 106332 chr1 38034497 38034497 T C rs781551158 GNL2 Nonsynonymous SNV Q425R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 106333 chr1 3431168 3431168 G A rs199566066 MEGF6 Nonsynonymous SNV R267C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 106334 chr5 82843864 82843864 C T rs183984308 VCAN Nonsynonymous SNV L411F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 106335 chr1 11733905 11733905 C T rs149211049 FBXO6 Synonymous SNV F293F 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 10.32 106336 chr1 182922067 182922067 G T rs188196867 SHCBP1L Nonsynonymous SNV L68M 0.02 0.008 0.031 6 24 3 0.015 9 0 0 1 0 9.695 106337 chr19 871251 871251 G A rs376733954 MED16 Nonsynonymous SNV R701C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.5 106338 chr1 183079691 183079691 A G rs139092535 LAMC1 Nonsynonymous SNV K308R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 19 106339 chr1 41296806 41296806 G A rs754553567 KCNQ4 Nonsynonymous SNV R394Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.5 106340 chr1 2537722 2537722 T A rs533316401 MMEL1 Nonsynonymous SNV N239Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 106341 chr1 183111832 183111832 C T rs139212722 LAMC1 Synonymous SNV I1579I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.95 106342 chr1 38184106 38184106 T C rs200996407 EPHA10 Nonsynonymous SNV S989G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.3 106343 chr1 183514112 183514112 A G rs34801227 SMG7 Nonsynonymous SNV M637V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.759 106344 chr1 41979163 41979163 G A rs78793608 HIVEP3 Nonsynonymous SNV T1910M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 106345 chr5 96222432 96222433 TT - rs746942670 ERAP2 L263Rfs*7 0 0 0.007 0 0 0 0 2 0 0 0 0 106346 chr5 96314952 96314952 G A rs760844738 LNPEP Nonsynonymous SNV V44M 0 0 0.007 0 0 0 0 2 0 0 0 0 21.4 106347 chr1 40668239 40668239 A G rs148023895 RLF Nonsynonymous SNV I255V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.612 106348 chr1 27180227 27180227 C T rs370957461 ZDHHC18 Nonsynonymous SNV R354W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 106349 chr1 40980715 40980715 C T rs145571905 EXO5 Nonsynonymous SNV P167S 0.006 0.003 0.007 6 7 1 0.015 2 0 0 0 0 26 106350 chr1 190067301 190067301 A G rs756148063 BRINP3 Synonymous SNV P614P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.032 106351 chr6 10770421 10770421 A G rs79544660 MAK Nonsynonymous SNV I547T 0.013 0.008 0.014 9 15 3 0.023 4 0 0 1 0 Conflicting interpretations of pathogenicity 12.49 106352 chr6 107955464 107955464 C A rs369211430 SOBP Synonymous SNV P472P 0.002 0.005 0.014 1 2 2 0.003 4 0 0 0 0 Benign 7.175 106353 chr1 27697423 27697423 C T rs201580290 FCN3 Nonsynonymous SNV R134H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.7 106354 chr6 10796399 10796399 C T rs145014649 MAK Synonymous SNV P325P 0.008 0.003 0.007 5 9 1 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.35 106355 chr1 44401821 44401821 C T rs371355147 ARTN Synonymous SNV A47A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.66 106356 chr20 50048830 50048830 C T rs139027658 NFATC2 Nonsynonymous SNV M812I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.62 106357 chr1 28858339 28858339 A C rs759274998 RCC1 Nonsynonymous SNV E33A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 106358 chr6 109816550 109816550 A C rs1007870340 AK9 Stop gain Y1803X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 106359 chr6 10990051 10990051 A G rs758579457 ELOVL2 Nonsynonymous SNV I217T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 106360 chr1 31215312 31215312 G A rs769873607 LAPTM5 Nonsynonymous SNV L58F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 106361 chr20 51871044 51871044 C T rs61758128 TSHZ2 Synonymous SNV N346N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 5.534 106362 chr1 43913909 43913909 G A rs146635122 SZT2 Synonymous SNV A3184A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign/Likely benign 0.064 106363 chr1 150131324 150131324 G A rs41264971 PLEKHO1 Nonsynonymous SNV R107Q 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 23.9 106364 chr6 111919271 111919271 C T rs3213575 TRAF3IP2-AS1 0 0 0.082 0 0 0 0 24 0 0 11 0 5.252 106365 chr1 25890157 25890157 G A rs146122441 LDLRAP1 Nonsynonymous SNV A208T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.5 106366 chr1 44447579 44447579 G A rs150178452 B4GALT2 Nonsynonymous SNV V178I 0.01 0.008 0.007 2 12 3 0.005 2 0 0 0 0 5.401 106367 chr1 26527325 26527325 G A rs80228909 CATSPER4 Nonsynonymous SNV G331D 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 0.06 106368 chr1 55224464 55224464 G A rs376396001 PARS2 Nonsynonymous SNV P124L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 106369 chr1 26527941 26527941 G A rs114575246 CATSPER4 Synonymous SNV T432T 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 13.87 106370 chr1 47284395 47284395 G A rs45622937 CYP4B1 Nonsynonymous SNV R320Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 11.72 106371 chr1 45297387 45297387 G A rs968580747 PTCH2 Nonsynonymous SNV A203V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.1 106372 chr1 45340342 45340342 A C rs77068026 EIF2B3 Nonsynonymous SNV S404A 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Benign/Likely benign 7.246 106373 chr1 49100171 49100171 G A rs12091951 AGBL4 Synonymous SNV N327N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 106374 chr1 49242456 49242456 C T rs548809089 BEND5 Synonymous SNV L16L 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 15.57 106375 chr6 12120844 12120844 T A rs201267308 HIVEP1 Nonsynonymous SNV N272K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.009 106376 chr1 27120873 27120873 G A rs148662665 PIGV Synonymous SNV L116L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.029 106377 chr1 27120874 27120874 A G rs142192097 PIGV Nonsynonymous SNV I117V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 106378 chr1 34662916 34662916 C T rs752954119 C1orf94 Synonymous SNV V137V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 106379 chr1 151787451 151787451 C T rs41263732 RORC Nonsynonymous SNV S229N 0.012 0.003 0.014 3 14 1 0.008 4 0 0 0 0 Likely benign 5.733 106380 chr6 122768149 122768149 G A rs117943173 SERINC1 Synonymous SNV S332S 0.019 0.008 0.01 8 22 3 0.021 3 0 0 0 0 13.13 106381 chr1 201966632 201966632 A G rs114130028 RNPEP Nonsynonymous SNV N57S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 106382 chr1 36230258 36230258 T G rs115614983 CLSPN Nonsynonymous SNV D64A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.9 106383 chr1 53668099 53668099 C T rs74315294 CPT2 Nonsynonymous SNV S113L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 106384 chr1 3649608 3649608 A G rs113253012 TP73 Nonsynonymous SNV I496V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 24.3 106385 chr1 152327667 152327667 C T rs12738471 FLG2 Synonymous SNV S865S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.69 106386 chr1 36564890 36564890 G A COL8A2 Nonsynonymous SNV P66L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.15 106387 chr1 202119546 202119546 C T rs4950772 PTPN7 Synonymous SNV G294G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.54 106388 chr20 60904036 60904036 T A rs151096227 LAMA5 Synonymous SNV P1437P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 8.535 106389 chr1 202531976 202531976 C T rs770769838 PPP1R12B Nonsynonymous SNV R64W 0.002 0 0 0 2 0 0 0 0 0 0 0 30 106390 chr1 37337959 37337959 G A rs78341238 GRIK3 Synonymous SNV L188L 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 Benign 9.894 106391 chr1 54870287 54870287 C T SSBP3 Synonymous SNV T51T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.23 106392 chr1 203186124 203186124 G A rs199572557 CHIT1 Nonsynonymous SNV R413W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 23.7 106393 chr1 203192320 203192320 G A rs377276949 CHIT1 Nonsynonymous SNV A164V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.5 106394 chr1 63067454 63067454 T G rs141266927 ANGPTL3 Nonsynonymous SNV C246G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.7 106395 chr1 203452781 203452781 A G rs2233726 PRELP Nonsynonymous SNV M157V 0.013 0.013 0.01 2 15 5 0.005 3 1 1 0 0 14.69 106396 chr1 38184343 38184343 T C rs201769517 EPHA10 Nonsynonymous SNV M968V 0.001 0.008 0.01 1 1 3 0.003 3 0 0 0 0 23.4 106397 chr1 153906172 153906172 C T DENND4B Synonymous SNV R1050R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 106398 chr6 131946022 131946022 A G rs937363202 MED23 Synonymous SNV T89T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.677 106399 chr1 153941506 153941506 C A rs146937006 CREB3L4 Nonsynonymous SNV S92Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 106400 chr1 204083666 204083666 G A rs200756176 SOX13 Synonymous SNV K117K 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 13.91 106401 chr6 132910543 132910543 A G rs41286168 TAAR5 Nonsynonymous SNV S95P 0.003 0.003 0.014 5 4 1 0.013 4 0 0 0 0 25.4 106402 chr1 32671329 32671329 G C rs766349411 IQCC Nonsynonymous SNV R16P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 106403 chr1 40092817 40092817 G A rs34926922 HEYL Nonsynonymous SNV R117W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 106404 chr1 204418364 204418364 G A rs17847754 PIK3C2B Synonymous SNV S765S 0.008 0 0 1 9 0 0.003 0 0 0 0 0 12.07 106405 chr1 55319766 55319766 G A rs770219651 DHCR24 Synonymous SNV L388L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.56 106406 chr1 40211072 40211072 G A rs149451835 PPIE Nonsynonymous SNV R137H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.8 106407 chr1 33292189 33292189 C T rs41265867 S100PBP Synonymous SNV D163D 0.019 0.01 0.02 6 22 4 0.015 6 0 0 0 0 3.312 106408 chr1 155015896 155015896 C T rs759585652 DCST1 Synonymous SNV D336D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.007 106409 chr1 6046228 6046228 G A rs754311690 NPHP4 Nonsynonymous SNV P41L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.1 106410 chr6 139694866 139694866 C T CITED2 Synonymous SNV A72A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 106411 chr1 206224830 206224830 G C rs36046834 AVPR1B Synonymous SNV L130L 0.009 0.01 0.01 0 11 4 0 3 0 0 1 0 0.972 106412 chr1 6209025 6209025 G A rs148051969 CHD5 Synonymous SNV D424D 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 13.2 106413 chr6 142491507 142491507 T C rs770236521 VTA1 Synonymous SNV T62T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.085 106414 chr1 57341803 57341803 G A rs150404785 C8A Nonsynonymous SNV D129N 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Uncertain significance 11.35 106415 chr1 155169649 155169650 TG - THBS3 0.001 0 0 0 1 0 0 0 0 0 0 0 106416 chr1 67838152 67838152 G A rs145064314 IL12RB2 Nonsynonymous SNV R498H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.248 106417 chr1 57535052 57535052 G A rs149741427 DAB1 Nonsynonymous SNV T215M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 106418 chr1 70819816 70819816 C G rs201689365 ANKRD13C Synonymous SNV P92P 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 14.57 106419 chr6 144794945 144794945 A G rs764300280 UTRN Synonymous SNV L1052L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.938 106420 chr1 110586288 110586288 G A rs200373879 STRIP1 Nonsynonymous SNV A271T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 19.69 106421 chr1 35578792 35578792 G A rs7552714 ZMYM1 Nonsynonymous SNV R379Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.065 106422 chr1 155870249 155870249 G T RIT1 Nonsynonymous SNV S161Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 106423 chr1 33236483 33236483 G A rs138055320 KIAA1522 Nonsynonymous SNV R509Q 0.009 0.008 0.014 2 11 3 0.005 4 1 0 0 0 17.02 106424 chr20 62370077 62370077 C T rs768001181 LIME1 Nonsynonymous SNV L238F 0.003 0.013 0 0 3 5 0 0 0 0 0 0 15.84 106425 chr6 150174154 150174154 C T rs139897421 LRP11 Synonymous SNV P252P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 21.4 106426 chr1 209602593 209602593 G A rs140174613 MIR205HG 0.009 0.005 0.007 5 11 2 0.013 2 0 0 0 0 6.169 106427 chr1 37267598 37267598 A G rs759110793 GRIK3 Nonsynonymous SNV C872R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 106428 chr1 78167072 78167072 C A USP33 Nonsynonymous SNV V831L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 26.6 106429 chr1 78420992 78420992 T A FUBP1 Synonymous SNV P576P 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 13.81 106430 chr1 1120489 1120489 G A rs142263062 TTLL10 Synonymous SNV K394K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.512 106431 chr1 39852990 39852990 T C rs72661966 MACF1 Synonymous SNV L2764L 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 0.004 106432 chr1 40124804 40124804 A C rs112421279 NT5C1A Nonsynonymous SNV S366A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.025 106433 chr1 212970533 212970533 C A rs148528899 TATDN3 Nonsynonymous SNV L85I 0.004 0 0.01 0 5 0 0 3 0 0 0 0 16.42 106434 chr1 46661744 46661744 C T POMGNT1 Synonymous SNV L98L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.478 106435 chr21 28338166 28338166 T C rs371205954 ADAMTS5 Nonsynonymous SNV Y182C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.96 106436 chr6 158924393 158924393 C G TULP4 Nonsynonymous SNV P1233R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 106437 chr1 41466736 41466736 G A rs1021855127 CTPS1 Synonymous SNV S191S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.735 106438 chr1 70671136 70671136 C A rs368762009 LRRC40 Nonsynonymous SNV G30W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 106439 chr21 31709621 31709621 C T rs371840056 KRTAP27-1 Synonymous SNV Q122Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.382 106440 chr6 159667986 159667986 G A rs760097568 FNDC1 Nonsynonymous SNV V1559I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 106441 chr1 86905988 86905988 A T rs145061827 CLCA2 Nonsynonymous SNV E454V 0.004 0.013 0.003 2 5 5 0.005 1 0 0 0 0 25.4 106442 chr6 161022107 161022107 C T rs41259144 LPA Nonsynonymous SNV R990Q 0.005 0.008 0.02 4 6 3 0.01 6 0 0 0 0 27.2 106443 chr21 34442840 34442840 G A rs753855485 OLIG1 Synonymous SNV P96P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.97 106444 chr6 16327202 16327202 C T ATXN1 Nonsynonymous SNV G447E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 106445 chr6 165808716 165808716 G C rs61733392 PDE10A Nonsynonymous SNV P487A 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 106446 chr1 75055473 75055473 G A rs200467702 ERICH3 Nonsynonymous SNV T673M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.035 106447 chr6 166354248 166354248 A G rs41269581 LINC00473 0 0 0.014 0 0 0 0 4 0 0 0 0 4.559 106448 chr1 75602864 75602864 T G LHX8 Nonsynonymous SNV M52R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 106449 chr1 89849256 89849256 G A rs116173091 GBP6 Nonsynonymous SNV E341K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 12.73 106450 chr1 159912847 159912847 G C rs143442822 IGSF9 Synonymous SNV P51P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.772 106451 chr1 78395131 78395131 A C rs201763096 NEXN Nonsynonymous SNV E268A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign/Likely benign 23.2 106452 chr1 45295296 45295296 C T rs139624405 PTCH2 Nonsynonymous SNV R358H 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 28 106453 chr1 1247943 1247943 - CCCTG rs562147098 MIR6727 0.001 0.003 0 0 1 1 0 0 0 0 0 0 106454 chr1 79356881 79356881 T G ADGRL4 Nonsynonymous SNV R677S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 106455 chr1 46086774 46086774 G - rs766160903 CCDC17 S467Yfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 106456 chr1 82415982 82415982 A T rs138125465 ADGRL2 Synonymous SNV G436G 0.015 0.013 0.01 2 18 5 0.005 3 0 0 0 0 0.028 106457 chr1 82432221 82432221 A G rs151060845 ADGRL2 Synonymous SNV S742S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.019 106458 chr1 86905888 86905888 G A rs145870955 CLCA2 Nonsynonymous SNV G421R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 106459 chr1 82450365 82450365 A G rs41292982 ADGRL2 Synonymous SNV R1110R 0.015 0.013 0.01 2 18 5 0.005 3 0 0 0 0 8.677 106460 chr1 1296637 1296637 G A rs1052450459 MXRA8 Nonsynonymous SNV R3C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.669 106461 chr6 17507541 17507541 G C rs897040191 CAP2 Nonsynonymous SNV V122L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 106462 chr1 1323393 1323393 C T rs145080018 CCNL2 Synonymous SNV K131K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.13 106463 chr6 17551803 17551803 A G rs750973280 CAP2 Nonsynonymous SNV M328V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 106464 chr6 17837315 17837315 A G rs140191648 KIF13A Synonymous SNV L317L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.714 106465 chr6 22287768 22287768 A C rs138984819 PRL Nonsynonymous SNV S183A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.584 106466 chr1 145439645 145439645 C T rs782028885 TXNIP Synonymous SNV F46F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 106467 chr1 95357930 95357930 - C rs766037642 SLC44A3 Frameshift insertion A539Cfs*7 0.003 0.003 0 0 4 1 0 0 0 0 0 0 106468 chr6 24806682 24806682 T G rs369994154 RIPOR2 Synonymous SNV A1021A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 106469 chr6 25081956 25081956 A C rs181899737 CMAHP 0 0 0.007 0 0 0 0 2 0 0 0 0 0.753 106470 chr6 25110231 25110231 C T rs188072431 CMAHP 0 0 0.007 0 0 0 0 2 0 0 0 0 18.17 106471 chr1 9784435 9784435 T C rs28730679 PIK3CD Synonymous SNV H911H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 5.317 106472 chr1 48260265 48260265 G A rs148869130 TRABD2B Synonymous SNV F327F 0.006 0 0.007 0 7 0 0 2 0 0 0 0 15.87 106473 chr1 48697277 48697277 C T rs61730945 SLC5A9 Nonsynonymous SNV A224V 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 1 33 106474 chr1 1470808 1470808 G A rs199556012 TMEM240 Synonymous SNV A151A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 6.326 106475 chr6 25862491 25862491 T C rs777970636 SLC17A3 Synonymous SNV L91L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.155 106476 chr21 43542975 43542975 C A rs144736191 UMODL1 Nonsynonymous SNV S1010R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.41 106477 chr6 26422354 26422354 C T rs55775018 BTN2A3P 0 0 0.173 0 0 0 0 51 0 0 2 0 6.643 106478 chr6 26422387 26422387 - CTTCCTCCTCCTCCT BTN2A3P 0 0 0.048 0 0 0 0 14 0 0 2 0 106479 chr6 26423317 26423317 G A rs7745238 BTN2A3P 0 0 0.18 0 0 0 0 53 0 0 2 0 1.563 106480 chr6 26426487 26426487 G A rs10946829 BTN2A3P 0 0 0.18 0 0 0 0 53 0 0 2 0 1.09 106481 chr6 26428314 26428314 G A rs12201546 BTN2A3P 0 0 0.065 0 0 0 0 19 0 0 2 0 1.23 106482 chr1 228491382 228491382 C T rs200828361 OBSCN Nonsynonymous SNV P4582L 0.003 0 0 0 3 0 0 0 0 0 0 0 24 106483 chr1 54681831 54681831 G C rs144251283 MRPL37 Nonsynonymous SNV L336F 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 26.6 106484 chr1 915211 915211 G A rs577120404 PERM1 Nonsynonymous SNV A400V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.809 106485 chr1 167962499 167962499 G T rs143999777 DCAF6 Nonsynonymous SNV A211S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.6 106486 chr1 55050381 55050381 G A rs139402332 ACOT11 Synonymous SNV A29A 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 6.543 106487 chr1 6636530 6636530 T A TAS1R1 Nonsynonymous SNV F185Y 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 24.5 106488 chr6 28358641 28358641 T C rs199534147 ZSCAN12 Nonsynonymous SNV K476E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 106489 chr6 2989894 2989894 A G rs6926159 LINC01011 0 0 0.031 0 0 0 0 9 0 0 0 0 5.873 106490 chr1 55223646 55223646 T C PARS2 Nonsynonymous SNV I397V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 106491 chr1 92789410 92789410 G A rs183756768 RPAP2 Synonymous SNV A311A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.662 106492 chr1 228582856 228582856 C G rs200056437 TRIM11 Synonymous SNV P319P 0.008 0.003 0.014 0 9 1 0 4 0 0 0 0 7.388 106493 chr1 67861350 67861350 T A rs144657291 IL12RB2 Nonsynonymous SNV C637S 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 0.001 106494 chr1 935138 935138 G A rs140166926 HES4 Synonymous SNV R72R 0.002 0.013 0 3 2 5 0.008 0 0 0 0 0 9.271 106495 chr1 55317993 55317993 G A DHCR24 Synonymous SNV S488S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 106496 chr1 9324192 9324192 G A rs778097553 H6PD Nonsynonymous SNV R558K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.594 106497 chr1 75038573 75038573 C - rs767969470 ERICH3 D941Mfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 106498 chr20 18297324 18297324 C T rs146733282 ZNF133 Nonsynonymous SNV T591M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.501 106499 chr1 9781553 9781553 C T rs151235777 PIK3CD Synonymous SNV Y592Y 0.005 0 0 5 6 0 0.013 0 0 0 0 0 Benign 6.829 106500 chr20 19955713 19955713 G C rs149398614 RIN2 Synonymous SNV L348L 0.013 0.016 0.003 4 15 6 0.01 1 1 0 0 0 Benign 0.631 106501 chr20 2082725 2082725 T A STK35 Synonymous SNV A66A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.951 106502 chr1 986165 986165 G A rs145444272 AGRN Nonsynonymous SNV R1734H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 106503 chr1 65120396 65120396 A C rs147439790 CACHD1 Synonymous SNV A268A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.349 106504 chr1 176738802 176738802 C T rs182946018 PAPPA2 Synonymous SNV P1461P 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 13.71 106505 chr6 39047360 39047360 C T rs754117921 GLP1R Nonsynonymous SNV T355I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 106506 chr20 14306773 14306773 T G rs35253731 FLRT3 Nonsynonymous SNV E460D 0.032 0.029 0.027 9 37 11 0.023 8 1 0 0 0 0.191 106507 chr21 47978204 47978204 G A rs754880804 DIP2A Synonymous SNV A1285A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 106508 chr1 156264339 156264339 G T rs148759491 GLMP Nonsynonymous SNV S46R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 20.4 106509 chr20 14307930 14307930 T A FLRT3 Nonsynonymous SNV I75F 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.3 106510 chr6 39869751 39869751 C T rs759817118 DAAM2 Stop gain R1049X 0 0 0.003 0 0 0 0 1 0 0 0 0 48 106511 chr22 18121557 18121557 C T rs572777315 BCL2L13 Nonsynonymous SNV P33L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 106512 chr1 86900365 86900365 G A rs34979893 CLCA2 Synonymous SNV S303S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.46 106513 chr1 178427462 178427462 G A RASAL2 Nonsynonymous SNV R871Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 106514 chr1 67672663 67672663 T C rs113009360 IL23R Synonymous SNV Y241Y 0.009 0.008 0 0 10 3 0 0 0 0 0 0 Benign 0.001 106515 chr22 19776406 19776406 G A rs140821525 GNB1L Synonymous SNV T270T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.01 106516 chr1 68910480 68910480 G A RPE65 Nonsynonymous SNV P111L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 29.8 106517 chr20 16254024 16254024 G A rs140845694 KIF16B Synonymous SNV L1225L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.852 106518 chr22 19950083 19950083 - T rs753820115 COMT Frameshift insertion L13Vfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 106519 chr1 179783167 179783167 G T rs147052174 FAM163A Nonsynonymous SNV G116V 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 25 106520 chr1 76269439 76269439 G A rs5745324 MSH4 Nonsynonymous SNV A90T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 4.258 106521 chr6 42928554 42928554 G A rs752961004 GNMT Nonsynonymous SNV G17R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 106522 chr6 43030720 43030720 G A rs149265494 KLC4 Synonymous SNV Q108Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.861 106523 chr20 17640694 17640694 G A rs746153679 RRBP1 Synonymous SNV V153V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 106524 chr1 2422650 2422650 G A rs532800575 PLCH2 Nonsynonymous SNV R485H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 18.22 106525 chr22 21105998 21105998 C T rs11552980 PI4KA Synonymous SNV L989L 0.014 0.003 0.007 6 17 1 0.015 2 1 0 0 0 13.23 106526 chr22 21133619 21133619 G A rs5905 SERPIND1 Nonsynonymous SNV A7T 0.012 0 0.007 5 14 0 0.013 2 1 0 0 0 1.309 106527 chr22 21133885 21133885 C T rs5906 SERPIND1 Synonymous SNV I95I 0.012 0 0.007 5 14 0 0.013 2 1 0 0 0 16.5 106528 chr22 21235389 21235389 A G rs116892729 SNAP29 Nonsynonymous SNV S163G 0.013 0 0.007 5 15 0 0.013 2 1 0 0 0 Benign 23.8 106529 chr20 3214891 3214891 C A rs758431963 SLC4A11 Nonsynonymous SNV A137S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.2 106530 chr22 21991000 21991000 C T rs202055808 CCDC116 Nonsynonymous SNV R495W 0.004 0 0 0 5 0 0 0 0 0 0 0 14.96 106531 chr20 33586525 33586526 AA - MYH7B K1375Efs*15 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 106532 chr1 86200461 86200461 C G rs200734872 COL24A1 Nonsynonymous SNV E957Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 106533 chr20 25457678 25457678 G A rs370873099 NINL Nonsynonymous SNV A750V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 106534 chr20 2552867 2552867 A G rs368060285 TMC2 Synonymous SNV G199G 0.003 0 0 0 3 0 0 0 0 0 0 0 5.021 106535 chr20 35866808 35866808 C T RPN2 Synonymous SNV I472I 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 21.1 106536 chr22 23487711 23487711 G T rs139746925 RAB36 Synonymous SNV A53A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.444 106537 chr1 247769100 247769100 C T OR2G3 Synonymous SNV I71I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.44 106538 chr1 86959258 86959258 C T rs142122660 CLCA1 Synonymous SNV Y552Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.779 106539 chr20 23546709 23546709 C T rs79890466 CST9L Nonsynonymous SNV V86I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 106540 chr20 31486403 31486403 G A rs372028720 EFCAB8 Synonymous SNV L354L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.093 106541 chr20 31573614 31573614 C T rs150130180 SUN5 Synonymous SNV T275T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.67 106542 chr1 15988065 15988065 C G RSC1A1 Nonsynonymous SNV P568A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.394 106543 chr1 159898584 159898584 C T rs781183381 IGSF9 Nonsynonymous SNV R865K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 106544 chr1 159922263 159922263 A G rs35614109 SLAMF9 Synonymous SNV S151S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.027 106545 chr20 25469920 25469920 C T rs144999465 NINL Nonsynonymous SNV R546Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.45 106546 chr1 159923234 159923234 C T rs34540580 SLAMF9, SLAMF9 Nonsynonymous SNV V86M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 24.2 106547 chr6 55142261 55142261 G A rs12111299 HCRTR2 Synonymous SNV T282T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 11.16 106548 chr20 10624502 10624502 G A rs56225585 JAG1 Synonymous SNV S794S 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Benign 15.23 106549 chr1 19235138 19235138 C T rs41273179 IFFO2 Nonsynonymous SNV V491M 0.007 0.008 0.017 5 8 3 0.013 5 0 0 0 0 22.4 106550 chr1 19236844 19236844 G A rs61752549 IFFO2 Synonymous SNV S480S 0.006 0.008 0.017 5 7 3 0.013 5 0 0 0 0 9.498 106551 chr1 160851810 160851810 G A rs145206585 ITLN1 Synonymous SNV D114D 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 11.15 106552 chr20 34129856 34129856 C G rs780217381 ERGIC3 Nonsynonymous SNV L4V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.6 106553 chr20 34220834 34220834 G A CPNE1 Synonymous SNV C4C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 106554 chr22 26888060 26888060 G A rs17850763 TFIP11 Synonymous SNV I780I 0.02 0.031 0.027 8 23 12 0.021 8 0 1 0 0 13.78 106555 chr1 19634979 19634979 C T rs139482849 AKR7A2 Synonymous SNV T152T 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 8.847 106556 chr20 31040783 31040783 G A rs41310799 NOL4L Synonymous SNV T264T 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 11.54 106557 chr20 13912308 13912308 C T rs143129534 SEL1L2 Nonsynonymous SNV R75H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 6.506 106558 chr20 31494748 31494748 T A rs369120371 EFCAB8 Nonsynonymous SNV I419N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.084 106559 chr1 93089873 93089873 T C rs148083405 EVI5 Nonsynonymous SNV T547A 0.005 0 0 0 6 0 0 0 0 0 0 0 6.266 106560 chr6 7230174 7230174 C G rs146678576 RREB1 Nonsynonymous SNV I614M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.9 106561 chr6 73904612 73904612 G A rs17810318 KCNQ5 Synonymous SNV K648K 0.02 0.013 0.027 4 23 5 0.01 8 0 0 0 0 6.811 106562 chr1 93312904 93312904 T A rs562312304 DIPK1A Nonsynonymous SNV I59F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.52 106563 chr1 16464489 16464489 C T rs34192549 EPHA2 Nonsynonymous SNV G337R 0.01 0.008 0.01 1 12 3 0.003 3 1 0 0 0 Benign 11.48 106564 chr1 201180136 201180243 GGGGCTCCTGAGAGAATAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGTAGAAATGGGGTCAGTGAATGAGGCAGGTTATAGGAAGGATTTA - IGFN1 E2042_P2077del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 106565 chr20 33568488 33568488 G A rs372129944 MYH7B Synonymous SNV P192P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.801 106566 chr20 17639876 17639876 T G rs202069077 RRBP1 Nonsynonymous SNV Q426P 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 6.153 106567 chr20 17639880 17639880 C T rs367977419 RRBP1 Nonsynonymous SNV A425T 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 4.732 106568 chr20 46279860 46279860 - CAA rs753491875 NCOA3 Q1275_T1276insQ 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 106569 chr20 33703717 33703717 T C EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV H382R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 106570 chr20 43090698 43090698 C T rs572020478 LINC01620 0.01 0.003 0 3 12 1 0.008 0 0 0 0 0 18.93 106571 chr6 83888413 83888413 C T rs918519577 PGM3 Synonymous SNV R255R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 106572 chr20 18296641 18296641 C T rs539564855 ZNF133 Synonymous SNV Y363Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.145 106573 chr20 47873978 47873978 C T rs143647973 ZNFX1 Synonymous SNV Q880Q 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Benign 8.448 106574 chr1 26673095 26673095 G A rs181557677 CRYBG2 Synonymous SNV A18A 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 21.8 106575 chr20 48429485 48429485 A C rs61734269 SLC9A8 Nonsynonymous SNV E9A 0.009 0.008 0 2 10 3 0.005 0 1 0 0 0 19.55 106576 chr20 44054419 44054419 C T rs752874517 PIGT Nonsynonymous SNV R462W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 106577 chr22 36054862 36054862 C T rs143660228 APOL6 Nonsynonymous SNV T84I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.801 106578 chr1 27873845 27873845 G A rs61742782 AHDC1 Synonymous SNV P1594P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 7.162 106579 chr1 170010879 170010879 A G rs1019209558 KIFAP3 Synonymous SNV T8T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.449 106580 chr20 44469382 44469382 G C rs453287 SNX21 Synonymous SNV R184R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.51 106581 chr6 90382002 90382002 C T rs138617275 MDN1 Nonsynonymous SNV V4571M 0 0 0.007 0 0 0 0 2 0 0 0 0 34 106582 chr1 171303757 171303757 T C rs149258005 FMO4 Synonymous SNV C345C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.006 106583 chr20 2188130 2188130 C T rs112195037 LOC388780 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.411 106584 chr20 44639676 44639676 G A rs200146604 MMP9 Synonymous SNV L212L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.68 106585 chr20 44658028 44658028 C A SLC12A5 Synonymous SNV A15A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 106586 chr20 37534642 37534642 C A rs55658640 PPP1R16B Synonymous SNV R243R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 13.38 106587 chr20 55206335 55206335 C T rs144019270 TFAP2C Synonymous SNV S41S 0.005 0.016 0.003 4 6 6 0.01 1 0 0 0 0 Benign 6.345 106588 chr20 44692170 44692170 T G rs35481630 NCOA5 Synonymous SNV R222R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.716 106589 chr20 55967914 55967914 C T rs758849112 LOC100291105 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.6 106590 chr1 17294810 17294810 G A rs1044243325 CROCC Nonsynonymous SNV R1658Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.9 106591 chr7 100230705 100230705 C G rs761605882 TFR2 Synonymous SNV L85L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 106592 chr1 205308920 205308920 C T rs141045248 KLHDC8A Synonymous SNV A131A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.12 106593 chr20 24964646 24964646 G A rs370014316 APMAP Synonymous SNV S35S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 106594 chr1 205744040 205744040 G A rs774230991 RAB29 Synonymous SNV D15D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 106595 chr22 38168625 38168625 G A rs769668759 TRIOBP Synonymous SNV S605S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 106596 chr20 47361607 47361607 C T rs747367951 PREX1 Synonymous SNV P123P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.554 106597 chr20 47865844 47865844 C T rs150481139 ZNFX1 Synonymous SNV K1239K 0.007 0.01 0 6 8 4 0.015 0 0 0 0 0 Benign 10.47 106598 chr1 206658569 206658569 G A rs150333242 IKBKE Synonymous SNV T429T 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 13.43 106599 chr1 3412569 3412569 G A rs771393042 MEGF6 Synonymous SNV G1252G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.552 106600 chr22 38822957 38822957 G A rs199879279 KCNJ4 Nonsynonymous SNV A394V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.289 106601 chr20 44171501 44171501 A G rs776110456 EPPIN, EPPIN-WFDC6 Nonsynonymous SNV C77R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 106602 chr1 34330096 34330096 C A rs142033235 HMGB4 Nonsynonymous SNV L28I 0.009 0.01 0.007 1 11 4 0.003 2 0 0 0 0 19.48 106603 chr20 2639162 2639162 T C rs8296 IDH3B Nonsynonymous SNV T360A 0.011 0.008 0 3 13 3 0.008 0 1 0 0 0 Likely benign 14.89 106604 chr20 2375201 2375201 G A rs140110349 TGM6 Synonymous SNV S37S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.4 106605 chr1 176659510 176659510 C T rs148196271 PAPPA2 Nonsynonymous SNV T792I 0.003 0.008 0.007 0 3 3 0 2 0 0 1 0 23 106606 chr20 6064805 6064805 C T rs2232078 FERMT1 Nonsynonymous SNV A534T 0.016 0.021 0.003 0 19 8 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 106607 chr20 3002849 3002849 C T rs773074761 PTPRA Synonymous SNV A428A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 106608 chr1 176762750 176762750 C G rs1040072418 PAPPA2 Nonsynonymous SNV P1692R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 106609 chr20 60718297 60718297 G A rs200184012 PSMA7 Synonymous SNV Y21Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.326 106610 chr20 60884818 60884818 C T rs759961163 LAMA5 Synonymous SNV A3634A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.31 106611 chr20 46262366 46262366 G A rs200506500 NCOA3 Nonsynonymous SNV R317H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.5 106612 chr1 178420725 178420725 G A rs76756503 RASAL2 Synonymous SNV L401L 0.012 0.005 0 3 14 2 0.008 0 0 0 0 0 11.73 106613 chr20 4713366 4713366 G A rs374342761 PRNT 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 106614 chr20 47267996 47267996 C T rs767028880 PREX1 Nonsynonymous SNV V865I 0.006 0 0 1 7 0 0.003 0 0 0 0 0 8.86 106615 chr20 2842455 2842455 G A rs149546324 VPS16 Nonsynonymous SNV V302M 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 24.4 106616 chr1 180235662 180235662 C T rs141139762 LHX4 Synonymous SNV D128D 0.015 0.013 0.031 12 18 5 0.031 9 0 1 0 0 Benign 15.76 106617 chr20 61448969 61448969 C T rs2273079 COL9A3 Synonymous SNV P43P 0.04 0.023 0.027 14 47 9 0.036 8 1 0 0 0 Benign 11.97 106618 chr20 58514156 58514156 G A PPP1R3D Synonymous SNV L277L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.257 106619 chr20 31387130 31387130 G A rs370222907 DNMT3B Synonymous SNV A489A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.899 106620 chr20 61459319 61459319 C T rs142412708 COL9A3 Synonymous SNV S297S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 13.39 106621 chr1 214794049 214794049 C T rs148125567 CENPF Nonsynonymous SNV R209W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 106622 chr20 6057970 6057970 G A rs2232083 FERMT1 Synonymous SNV N628N 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Benign 11.36 106623 chr20 35075135 35075135 G A rs112014857 DLGAP4 Synonymous SNV A481A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 106624 chr20 3657785 3657785 C T rs149439574 ADAM33 Synonymous SNV S61S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.06 106625 chr20 61981575 61981575 G A rs201164674 CHRNA4 Synonymous SNV S396S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 0.579 106626 chr20 60882763 60882763 G A rs115525800 ADRM1 Synonymous SNV A206A 0.008 0 0 3 9 0 0.008 0 0 0 0 0 Benign 11.96 106627 chr1 183514153 183514153 A G rs148022443 SMG7 Synonymous SNV P650P 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 2.003 106628 chr1 218504392 218504392 G T rs746555876 RRP15 Nonsynonymous SNV D270Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 31 106629 chr20 33575994 33575994 C T rs747907889 MYH7B Nonsynonymous SNV R548W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 106630 chr20 34278459 34278459 T C rs112446981 NFS1 Nonsynonymous SNV K146R 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 20.3 106631 chr1 44071291 44071291 G A rs550783962 PTPRF Nonsynonymous SNV E857K 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 106632 chr22 46684483 46684483 C T TTC38 Synonymous SNV S360S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.97 106633 chr20 37150212 37150212 A G rs762844396 RALGAPB Nonsynonymous SNV N497S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.077 106634 chr7 103808892 103808892 G A rs368593110 ORC5 Synonymous SNV T302T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.32 106635 chr7 105192057 105192057 T C rs35961194 RINT1 Synonymous SNV A117A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 9.811 106636 chr7 1062599 1062599 T C rs72631820 MIR339 0 0 0.007 0 0 0 0 2 0 0 0 0 15.11 106637 chr1 2237665 2237665 C T rs201895384 SKI Synonymous SNV R658R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 15.88 106638 chr7 107735778 107735778 G A rs781087492 LAMB4 Synonymous SNV C455C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 106639 chr22 47064743 47064743 C T rs151176619 GRAMD4 Nonsynonymous SNV A367V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.37 106640 chr20 42143718 42143718 G T rs139481375 L3MBTL1 Nonsynonymous SNV C101F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 106641 chr1 1957112 1957112 C T rs61742636 GABRD Synonymous SNV H135H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 10.05 106642 chr1 1961144 1961144 C T rs41315330 GABRD Synonymous SNV N334N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 7.649 106643 chr1 198691595 198691595 T A rs12136658 PTPRC Nonsynonymous SNV H409Q 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Benign 0.009 106644 chr20 61542811 61542811 G C DIDO1 Nonsynonymous SNV P52A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.185 106645 chr1 201023672 201023672 G A rs200852196 CACNA1S Synonymous SNV S1209S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 106646 chr22 50705830 50705830 G A rs140519122 MAPK11 Synonymous SNV F129F 0.005 0 0.01 0 6 0 0 3 0 0 0 0 6.892 106647 chr20 6759097 6759097 G A rs142811428 BMP2 Synonymous SNV S184S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 3.344 106648 chr20 62172286 62172286 C T rs760001711 SRMS Nonsynonymous SNV C451Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.4 106649 chr20 4843508 4843508 C T rs201605928 SLC23A2 Nonsynonymous SNV A468T 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 23.1 106650 chr20 8769293 8769293 T C rs41275588 PLCB1 Synonymous SNV L1068L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.744 106651 chr20 47282861 47282861 C T rs146526094 PREX1 Synonymous SNV A566A 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 Benign 18.22 106652 chr22 50986914 50986914 C T KLHDC7B Nonsynonymous SNV P748S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.196 106653 chr20 49177980 49177980 C T rs756295171 PTPN1 Synonymous SNV D48D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.28 106654 chr20 44523472 44523472 G A rs142892564 CTSA Nonsynonymous SNV D295N 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 Benign/Likely benign 11.98 106655 chr21 34717602 34717602 C T IFNAR1 Stop gain Q242X 0 0.003 0 0 0 1 0 0 0 0 0 0 24 106656 chr7 132412197 132412197 G T rs532833159 FLJ40288 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 106657 chr7 133812351 133812351 T C rs61732215 LRGUK Synonymous SNV D77D 0.009 0.008 0.027 5 10 3 0.013 8 0 0 0 0 0.33 106658 chr20 5093674 5093674 T C rs768390203 TMEM230 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.053 106659 chr1 202700068 202700068 C T rs34216958 KDM5B Nonsynonymous SNV R1337Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 21 106660 chr7 134849207 134849207 G A rs770106563 TMEM140 Nonsynonymous SNV R5K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.303 106661 chr1 55518385 55518385 C T rs41297883 PCSK9 Synonymous SNV G240G 0.009 0.005 0.01 8 10 2 0.021 3 0 0 0 1 Conflicting interpretations of pathogenicity 14.12 106662 chr20 55033420 55033420 C T rs35031530 CASS4 Nonsynonymous SNV P223S 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 0.107 106663 chr21 36042710 36042710 G A rs753964966 CLIC6 Synonymous SNV G341G 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 7.672 106664 chr1 228522880 228522880 C A rs374694590 OBSCN Nonsynonymous SNV A5429E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.2 106665 chr1 57254757 57254757 G A rs145616104 FYB2 Nonsynonymous SNV P270S 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 25.7 106666 chr20 4770275 4770275 T G rs61752027 RASSF2 Synonymous SNV P202P 0.016 0.013 0.01 22 19 5 0.056 3 0 0 0 0 7.994 106667 chr7 137092670 137092670 G A rs76989323 DGKI Synonymous SNV Y957Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 106668 chr7 138363747 138363747 C T rs758884548 SVOPL Nonsynonymous SNV R15Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 106669 chr2 10262891 10262891 C T rs780686062 RRM2 Nonsynonymous SNV S49F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.02 106670 chr21 34099130 34099130 T G rs766887493 SYNJ1 Nonsynonymous SNV H26P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.6 106671 chr1 22987679 22987679 C T rs772220643 C1QB Nonsynonymous SNV R188W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 106672 chr21 34715932 34715932 C T rs767417203 IFNAR1 Nonsynonymous SNV T208M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.475 106673 chr20 57251257 57251257 A C STX16 Nonsynonymous SNV Q292H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 106674 chr1 6172218 6172218 C T CHD5 Nonsynonymous SNV A1708T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 106675 chr21 42748886 42748886 C T rs754295506 MX2 Nonsynonymous SNV S18F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.33 106676 chr21 42778877 42778877 G A rs201440007 MX2 Synonymous SNV S619S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 8.938 106677 chr1 62910655 62910655 T C rs749813428 USP1 Synonymous SNV N268N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 5.742 106678 chr2 109529200 109529200 C T rs370972367 EDAR Nonsynonymous SNV A155T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.729 106679 chr1 63788747 63788747 C T rs750114698 FOXD3 Synonymous SNV G6G 0.003 0 0 0 4 0 0 0 0 0 0 0 19.91 106680 chr1 6527980 6527980 G C rs923660925 PLEKHG5 Synonymous SNV P972P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 0.035 106681 chr21 34805094 34805094 C T rs566154275 IFNGR2 Synonymous SNV A265A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.44 106682 chr1 209605620 209605620 G A rs374711212 MIR205HG 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 5.93 106683 chr1 20979136 20979136 G A rs145940009 DDOST Nonsynonymous SNV T400I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 106684 chr20 61512687 61512687 A G rs118103955 DIDO1 Nonsynonymous SNV S1541P 0.012 0.016 0.007 5 14 6 0.013 2 0 0 0 0 0.031 106685 chr20 61513290 61513290 C T rs369813858 DIDO1 Nonsynonymous SNV A1340T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.625 106686 chr7 150439669 150439669 A G rs61750977 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV I148V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 106687 chr2 11718519 11718519 G A rs527940948 GREB1 Nonsynonymous SNV G245E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.432 106688 chr1 211749376 211749376 G A SLC30A1 Nonsynonymous SNV A293V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 106689 chr20 62152935 62152935 C T PPDPF Synonymous SNV H42H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.64 106690 chr7 150878172 150878172 C T rs151344610 ASB10 Nonsynonymous SNV A320T 0 0 0.007 0 0 0 0 2 0 0 0 0 not provided 17.55 106691 chr20 62194390 62194390 G A rs570620102 HELZ2 Nonsynonymous SNV R1360W 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.4 106692 chr2 119604675 119604675 - GTC EN1 T23_P24insT 0.001 0 0 0 1 0 0 0 0 0 0 0 106693 chr1 237872837 237872837 T C rs779316628 RYR2 Synonymous SNV A3400A 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.126 106694 chr7 151875048 151875048 C T rs531219111 KMT2C Nonsynonymous SNV R2497H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 106695 chr1 23850942 23850942 G A rs367603815 E2F2 Synonymous SNV P97P 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 7.293 106696 chr1 214560201 214560201 G A rs143452475 PTPN14 Nonsynonymous SNV T351M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 24.8 106697 chr7 154561240 154561240 G A rs147970849 DPP6 Nonsynonymous SNV G226S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 106698 chr1 214818291 214818291 G A rs143725699 CENPF Nonsynonymous SNV R1793H 0.01 0.008 0.02 2 12 3 0.005 6 0 0 0 0 Likely benign 23.1 106699 chr1 241934987 241934990 AGTG - WDR64 S760Rfs*9 0.002 0.003 0 0 2 1 0 0 0 0 0 0 106700 chr1 76226952 76226952 T C rs150710061 ACADM Nonsynonymous SNV I175T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 14.22 106701 chr21 46330222 46330222 C T rs552407409 ITGB2 Nonsynonymous SNV G42S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.38 106702 chr1 216052345 216052345 G A rs56829872 USH2A Synonymous SNV S2773S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 8.716 106703 chr2 125555789 125555789 T C rs767984136 CNTNAP5 Nonsynonymous SNV S1037P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.88 106704 chr20 62311299 62311299 C T rs201938707 RTEL1 Nonsynonymous SNV R156C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 34 106705 chr2 127808046 127808046 T C rs138047593 BIN1 Nonsynonymous SNV K334R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 106706 chr7 155757245 155757245 G C rs144202987 LOC389602 Synonymous SNV L182L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.368 106707 chr20 62630427 62630427 C T rs138336365 PRPF6 Synonymous SNV V267V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Likely benign 14.22 106708 chr2 128388904 128388904 C T rs373600871 MYO7B Synonymous SNV V1661V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.29 106709 chr20 62339999 62339999 G T rs774132992 ZGPAT Nonsynonymous SNV A23S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 106710 chr21 47588428 47588428 G A rs884134 SPATC1L Nonsynonymous SNV P113L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.02 106711 chr20 7920986 7920986 C T rs33931524 HAO1 Synonymous SNV R28R 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 16.71 106712 chr1 22172745 22172745 G A rs758171238 HSPG2 Nonsynonymous SNV R2775C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22 106713 chr2 131520625 131520625 C T rs983772806 AMER3 Nonsynonymous SNV P327L 0.003 0 0 0 3 0 0 0 0 0 0 0 19.69 106714 chr20 9525078 9525078 A G rs75316826 PAK5 Synonymous SNV L603L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 5.653 106715 chr20 8113362 8113362 C T rs750815075 PLCB1 Nonsynonymous SNV L22F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 106716 chr7 1627161 1627161 G A PSMG3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.881 106717 chr21 46326847 46326847 G A rs138682103 ITGB2 Nonsynonymous SNV T104M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.41 106718 chr1 85331664 85331664 - A rs765834329 LPAR3 Frameshift insertion S47Ffs*2 0.003 0 0 0 4 0 0 0 0 0 0 0 106719 chr21 16338443 16338443 G A rs61755058 NRIP1 Nonsynonymous SNV P691S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.002 106720 chr1 222803062 222803062 A G rs79054337 MIA3 Nonsynonymous SNV I834V 0.008 0 0.017 3 9 0 0.008 5 0 0 0 0 0.007 106721 chr1 222817889 222817889 G A rs552748893 MIA3 Synonymous SNV L24L 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 18.94 106722 chr21 17198541 17198541 C T rs75761846 USP25 Synonymous SNV S441S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.07 106723 chr21 47423869 47423869 A G rs141605607 COL6A1 Nonsynonymous SNV Q1010R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 106724 chr21 44590462 44590462 C G CRYAA, CRYAA2 Nonsynonymous SNV D7E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.755 106725 chr21 27121388 27121388 A G rs9981487 GABPA Synonymous SNV T88T 0.009 0.008 0.014 3 11 3 0.008 4 0 0 0 0 5.269 106726 chr21 28338307 28338307 G T rs61754847 ADAMTS5 Nonsynonymous SNV T135K 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 25.6 106727 chr7 2303965 2303965 C T rs754544348 SNX8 Synonymous SNV A250A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 106728 chr21 31023549 31023549 C T GRIK1 Synonymous SNV R139R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.283 106729 chr22 21385309 21385309 G A rs138132003 SLC7A4 Nonsynonymous SNV R265W 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 21.9 106730 chr21 45947217 45947217 C T rs145868820 TSPEAR Synonymous SNV T369T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 13.29 106731 chr21 31874259 31874259 G A rs145879341 KRTAP19-5 Synonymous SNV F50F 0.005 0 0 2 6 0 0.005 0 0 0 0 0 8.553 106732 chr7 27228335 27228335 G A rs79658629 HOXA11-AS 0 0 0.092 0 0 0 0 27 0 0 4 0 14.55 106733 chr7 28610102 28610102 G A rs371367477 CREB5 Synonymous SNV S104S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.823 106734 chr21 30308902 30308902 G A rs144668934 LTN1 Nonsynonymous SNV P1520S 0.008 0.005 0.017 10 9 2 0.026 5 0 0 0 0 4.446 106735 chr22 24037095 24037096 CT - rs556324801 GUSBP11 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 106736 chr22 19213835 19213835 C T rs45590542 CLTCL1 Synonymous SNV E618E 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 Benign 13.86 106737 chr2 15746340 15746340 G T rs753510952 DDX1 Nonsynonymous SNV A257S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 106738 chr22 24836835 24836835 G A rs771672458 ADORA2A Nonsynonymous SNV R206Q 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 22.8 106739 chr1 228491538 228491538 C T rs55940470 OBSCN Nonsynonymous SNV T4634M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 106740 chr21 48068492 48068492 C T rs753610491 PRMT2 Synonymous SNV I150I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 106741 chr21 40193616 40193616 C T rs185172042 ETS2 Synonymous SNV A394A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.84 106742 chr2 162088008 162088008 T C rs751928041 TANK Synonymous SNV D349D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 106743 chr1 22974168 22974168 G A rs370567740 C1QC Synonymous SNV R121R 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 4.585 106744 chr22 26908078 26908078 G T TFIP11 Nonsynonymous SNV Q35K 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 5.117 106745 chr7 43580774 43580774 C T rs61756578 HECW1 Synonymous SNV S1310S 0.007 0.008 0.017 2 8 3 0.005 5 0 0 0 0 18.23 106746 chr1 9613769 9613769 A G rs777289369 SLC25A33 Nonsynonymous SNV T48A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.56 106747 chr1 9661227 9661227 C T rs768287386 TMEM201 Nonsynonymous SNV A224V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.93 106748 chr1 9790726 9790731 TCCTCC - rs754569387 CLSTN1 E915_E916del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 106749 chr7 44530181 44530181 C T rs775686676 NUDCD3 Nonsynonymous SNV E7K 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 106750 chr22 30415983 30415983 C T rs61737780 MTMR3 Nonsynonymous SNV L779F 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 9.084 106751 chr1 23419436 23419436 C T rs145388641 LUZP1 Nonsynonymous SNV S440N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.254 106752 chr1 27057985 27057985 C T ARID1A Nonsynonymous SNV P565S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 106753 chr7 45139949 45139949 G A rs142877335 TBRG4 Nonsynonymous SNV A514V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 21.7 106754 chr1 235357460 235357460 A G rs62000435 ARID4B Synonymous SNV L579L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.797 106755 chr22 24106519 24106519 G A C22orf15 Nonsynonymous SNV R62Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.025 106756 chr1 236187401 236187401 G T rs200711810 NID1 Synonymous SNV I699I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.98 106757 chr7 47859241 47859241 - A rs771368396 C7orf69 0 0 0.003 0 0 0 0 1 0 0 0 0 106758 chr7 47892745 47892745 A G rs150396842 PKD1L1 Nonsynonymous SNV I1647T 0.013 0.018 0.007 7 15 7 0.018 2 0 0 0 0 Likely benign 5.452 106759 chr21 43985958 43985958 A T rs117821416 SLC37A1 Nonsynonymous SNV S415C 0.019 0.018 0.02 13 22 7 0.033 6 0 0 1 0 Benign 26.8 106760 chr2 170386404 170386404 C T FASTKD1 Synonymous SNV L759L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.59 106761 chr20 1592304 1592304 A C rs758537769 SIRPB1 Synonymous SNV V44V 0.003 0.008 0.007 2 3 3 0.005 2 0 1 1 1 0.029 106762 chr22 32439338 32439338 C T rs201800716 SLC5A1 Nonsynonymous SNV R24C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 24.9 106763 chr22 23488844 23488844 G A rs765726662 RAB36 Nonsynonymous SNV R80H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 106764 chr21 45651319 45651319 T C rs201462822 ICOSLG, LOC102723996 Nonsynonymous SNV I119V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 106765 chr21 45820174 45820174 C G rs746257107 TRPM2 Synonymous SNV L747L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.566 106766 chr22 24210702 24210702 C T rs552556194 SLC2A11 Nonsynonymous SNV A52V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.967 106767 chr21 45713776 45713776 C T rs147485628 AIRE Synonymous SNV A461A 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.78 106768 chr7 50513721 50513721 A C rs146680091 FIGNL1 Nonsynonymous SNV L422W 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 106769 chr22 36897304 36897304 G A rs141576694 FOXRED2 Synonymous SNV H310H 0.002 0.013 0.007 0 2 5 0 2 0 0 0 0 5.02 106770 chr21 45802616 45802616 C T rs148140272 TRPM2 Nonsynonymous SNV R411W 0.008 0 0 1 9 0 0.003 0 0 0 0 0 34 106771 chr22 24621252 24621252 G A rs150898918 GGT5 Synonymous SNV G412G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 106772 chr1 3319461 3319461 C T rs61756439 PRDM16 Synonymous SNV Y261Y 0.013 0.005 0.003 0 15 2 0 1 0 0 0 0 Benign 13.51 106773 chr1 238046056 238046056 G A rs35187146 ZP4 Nonsynonymous SNV P494L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 14.96 106774 chr1 238048543 238048543 G A ZP4 Synonymous SNV P411P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.859 106775 chr1 3328124 3328124 G A rs536908705 PRDM16 Nonsynonymous SNV G455S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.938 106776 chr21 45877121 45877121 C T rs61735246 LRRC3 Synonymous SNV V198V 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 5.182 106777 chr1 238049143 238049143 G A rs34811980 ZP4 Nonsynonymous SNV P295S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 22.9 106778 chr1 238053226 238053226 G A rs34370253 ZP4 Nonsynonymous SNV A114V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 0.002 106779 chr20 18522947 18522947 C A rs769524677 SEC23B Nonsynonymous SNV T471N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 18.79 106780 chr1 2408071 2408071 C T rs777286891 PLCH2 Nonsynonymous SNV T15M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.628 106781 chr21 46624486 46624486 A G rs146201109 ADARB1 Nonsynonymous SNV I528V 0.004 0 0.014 0 5 0 0 4 0 0 0 0 Uncertain significance 8.884 106782 chr21 44293689 44293689 T C rs755775432 WDR4 Nonsynonymous SNV T90A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 106783 chr21 44338824 44338824 C T rs1044062383 ERVH48-1 Nonsynonymous SNV R98H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.26 106784 chr2 179214011 179214011 G A OSBPL6 Nonsynonymous SNV A319T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 106785 chr21 45053153 45053153 T C rs766345353 HSF2BP Synonymous SNV G147G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.67 106786 chr21 46951462 46951462 G A rs759645172 SLC19A1 Nonsynonymous SNV R224W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 106787 chr2 179424843 179424843 C T TTN Stop gain W19607X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 66 106788 chr22 31816377 31816377 A G rs770670606 DRG1 Nonsynonymous SNV K183R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19.37 106789 chr7 5781045 5781045 G C rs150011164 RNF216 Synonymous SNV S201S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Likely benign 8.174 106790 chr21 45540962 45540962 A G rs138954845 LOC102724159, PWP2 Nonsynonymous SNV T539A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.1 106791 chr21 47655294 47655294 G A rs141098252 MCM3AP Nonsynonymous SNV T1944M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.53 106792 chr1 245250594 245250594 A G rs777219186 EFCAB2 Nonsynonymous SNV I151V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.875 106793 chr21 47775480 47775480 C T rs369822215 PCNT Synonymous SNV C507C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.862 106794 chr22 35806756 35806756 G A rs2230933 MCM5 Nonsynonymous SNV V258I 0.009 0.008 0.003 1 11 3 0.003 1 1 0 0 0 Benign 23.1 106795 chr22 29879534 29879534 C A rs149955255 NEFH Nonsynonymous SNV R352S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 106796 chr1 246093217 246093217 A G SMYD3 Nonsynonymous SNV I185T 0.002 0.016 0 2 2 6 0.005 0 0 1 0 0 27.8 106797 chr22 36684430 36684430 G A rs201223994 MYH9 Synonymous SNV D1600D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 10.88 106798 chr20 239757 239757 G T rs145729689 DEFB132 Nonsynonymous SNV G33V 0.012 0.016 0.007 0 14 6 0 2 0 0 0 0 9.661 106799 chr21 47931423 47931423 C T rs201955611 DIP2A Nonsynonymous SNV P290L 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 23.1 106800 chr20 2465255 2465255 A C rs764152510 ZNF343 Nonsynonymous SNV F28V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.453 106801 chr22 37538522 37538522 G A rs111730897 IL2RB Synonymous SNV P78P 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 5.381 106802 chr20 25457515 25457515 G A rs769581896 NINL Synonymous SNV L804L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.592 106803 chr21 47706997 47706997 G A rs370957005 YBEY Nonsynonymous SNV R57K 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 0.007 106804 chr22 38120797 38120797 G A rs150690007 TRIOBP Nonsynonymous SNV R745K 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 8.117 106805 chr22 19221028 19221028 T C CLTCL1 Nonsynonymous SNV K429E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 106806 chr7 76029853 76029853 G A rs147783985 SSC4D Synonymous SNV H75H 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 7.353 106807 chr1 42045770 42045770 G A rs34970884 HIVEP3 Nonsynonymous SNV P1567S 0.008 0.005 0 1 9 2 0.003 0 1 0 0 0 22.5 106808 chr20 30432723 30432723 A G FOXS1 Nonsynonymous SNV V208A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 106809 chr22 32108665 32108665 G A rs776332891 PRR14L Synonymous SNV S1720S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.192 106810 chr22 21327727 21327727 C A AIFM3 Nonsynonymous SNV L55M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 106811 chr22 38617704 38617704 G C rs138939062 TMEM184B Synonymous SNV P332P 0.021 0.021 0.014 4 25 8 0.01 4 0 0 0 0 7.398 106812 chr22 21385191 21385191 G T rs149158975 SLC7A4 Nonsynonymous SNV A304E 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.7 106813 chr22 45279119 45279119 G A rs79098238 PHF21B Synonymous SNV R427R 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 12.27 106814 chr22 39262787 39262787 T C rs762424363 CBX6 Synonymous SNV T204T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.06 106815 chr22 45599054 45599054 G A rs113662359 KIAA0930 Synonymous SNV A223A 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 12.77 106816 chr22 18166008 18166008 T C BCL2L13 Synonymous SNV S74S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.699 106817 chr7 99474438 99474438 A G rs139077767 OR2AE1 Synonymous SNV H73H 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 0.002 106818 chr2 197584346 197584346 G A rs566079893 CCDC150 Synonymous SNV E115E 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 10.54 106819 chr22 24720252 24720252 C T rs143004795 SPECC1L Nonsynonymous SNV T668M 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 29.6 106820 chr22 37964618 37964618 G A rs199731132 CDC42EP1 Nonsynonymous SNV A323T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.26 106821 chr20 34242725 34242725 T C rs141540679 RBM12 Nonsynonymous SNV T174A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 7.953 106822 chr8 100654723 100654723 A G rs139640224 VPS13B Nonsynonymous SNV I1994V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.062 106823 chr22 24898127 24898127 G A UPB1 Nonsynonymous SNV V104I 0.004 0.003 0 7 5 1 0.018 0 0 0 0 0 Uncertain significance 0.002 106824 chr22 38336794 38336794 A G rs147196909 MICALL1 Nonsynonymous SNV N850S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.2 106825 chr8 103137693 103137693 T C rs487571 MIR5680 0 0 0.153 0 0 0 0 45 0 0 19 0 1.658 106826 chr22 46930436 46930436 G A rs758408409 CELSR1 Synonymous SNV L878L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 1 2.501 106827 chr1 48231625 48231625 G A rs563082206 TRABD2B Synonymous SNV I501I 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 8.179 106828 chr2 202068483 202068483 A T rs41473647 CASP10 Nonsynonymous SNV S239C 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 0.154 106829 chr22 26861473 26861473 T A rs34962745 HPS4 Nonsynonymous SNV T246S 0.02 0.031 0.01 4 24 12 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.53 106830 chr20 37400450 37400450 G C rs145297164 ACTR5 Nonsynonymous SNV E605D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 20.3 106831 chr22 50553670 50553670 C T rs144338444 MOV10L1 Synonymous SNV D418D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 1 9.249 106832 chr22 29141975 29141975 G A rs769939307 HSCB Nonsynonymous SNV E27K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 106833 chr1 27739150 27739150 G A rs149705388 WASF2 Nonsynonymous SNV P247L 0.011 0.005 0.007 2 13 2 0.005 2 1 0 0 0 Likely benign 23 106834 chr20 39802948 39802948 G T rs764642255 PLCG1 Nonsynonymous SNV R1277L 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 29.6 106835 chr1 29189399 29189399 C A rs138091208 OPRD1 Synonymous SNV R241R 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 15.47 106836 chr22 30983345 30983345 C G PES1 Nonsynonymous SNV S99T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 106837 chr1 32085210 32085210 G A rs75232948 HCRTR1 Nonsynonymous SNV V93I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 106838 chr22 50197912 50197912 G A rs147768233 BRD1 Synonymous SNV N488N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.215 106839 chr20 44144173 44144173 C T rs568339598 SPINT3 Nonsynonymous SNV D26N 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 3.169 106840 chr20 44180670 44180670 G A rs147560522 WFDC8 Nonsynonymous SNV R241C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.81 106841 chr20 44190751 44190751 T G rs145117328 WFDC8 Nonsynonymous SNV K45T 0.001 0.013 0 2 1 5 0.005 0 0 0 0 0 8.98 106842 chr22 31284271 31284271 T C rs76606996 OSBP2 Synonymous SNV D88D 0.011 0.005 0 2 13 2 0.005 0 0 0 0 0 3.52 106843 chr1 57417781 57417781 C T rs34438223 C8B Synonymous SNV P202P 0.006 0.013 0.027 5 7 5 0.013 8 0 0 0 0 Benign 7.747 106844 chr2 208693206 208693206 C G rs779263060 PLEKHM3 Nonsynonymous SNV G708A 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 106845 chr8 121509701 121509701 A G MTBP Nonsynonymous SNV T506A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 106846 chr22 32112249 32112249 G A rs117719230 PRR14L Nonsynonymous SNV P526S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 0.002 106847 chr20 45811976 45811976 C T rs142770401 EYA2 Synonymous SNV F412F 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 16.99 106848 chr20 45905356 45905356 C G ZMYND8 Nonsynonymous SNV Q369H 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 19.67 106849 chr8 124664860 124664860 T C rs201057767 KLHL38 Nonsynonymous SNV N103D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.675 106850 chr2 102038927 102038927 T C rs373905051 RFX8 Nonsynonymous SNV D27G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.6 106851 chr1 6268958 6268958 C T rs564604804 RNF207 Synonymous SNV Y114Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 7.153 106852 chr22 50721157 50721157 C T PLXNB2 Synonymous SNV P990P 0.003 0 0 0 4 0 0 0 0 0 0 0 12.44 106853 chr22 50721252 50721252 T C rs62621407 PLXNB2 Nonsynonymous SNV M959V 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 0.001 106854 chr22 50216725 50216725 T C rs147595191 BRD1 Nonsynonymous SNV E414G 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Likely benign 10.07 106855 chr22 37334280 37334280 C A rs2228092 CSF2RB Synonymous SNV P810P 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Benign 19.74 106856 chr22 37211259 37211259 T G rs750078056 PVALB Nonsynonymous SNV K28Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 106857 chr22 51065734 51065734 C T rs746259972 ARSA Nonsynonymous SNV V109M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 16.8 106858 chr22 37485755 37485755 G A TMPRSS6 Synonymous SNV A233A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.438 106859 chr2 100013306 100013306 C T rs563364989 EIF5B Nonsynonymous SNV T1113M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 106860 chr22 37769631 37769631 G A rs746306624 ELFN2 Synonymous SNV P648P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 5.749 106861 chr22 30768311 30768311 A C KIAA1656 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 0.796 106862 chr2 217069101 217069101 T C rs61752202 XRCC5 Synonymous SNV G722G 0.009 0.005 0.01 1 11 2 0.003 3 0 0 0 0 Benign 9.389 106863 chr20 50407652 50407652 T C rs749389297 SALL4 Nonsynonymous SNV Y457C 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 1.732 106864 chr1 6537598 6537598 G T rs140687324 PLEKHG5 Nonsynonymous SNV P12T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 106865 chr22 38109353 38109353 G A rs144634857 TRIOBP Nonsynonymous SNV G131S 0.006 0.008 0.01 6 7 3 0.015 3 1 0 0 0 Benign/Likely benign 6.899 106866 chr1 40092769 40092769 C G rs963551285 HEYL Nonsynonymous SNV G133R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 106867 chr22 38228644 38228644 C T rs143173080 ANKRD54 Synonymous SNV Q211Q 0.009 0.01 0.01 6 10 4 0.015 3 1 0 0 0 8.701 106868 chr8 140715107 140715107 G A rs747048009 KCNK9 Synonymous SNV A43A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 106869 chr22 38505152 38505152 G A rs201026822 BAIAP2L2 Nonsynonymous SNV R39C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 34 106870 chr22 38522379 38522379 T C rs780880188 PLA2G6 Nonsynonymous SNV T422A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.384 106871 chr22 38823676 38823676 C G rs77032485 KCNJ4 Synonymous SNV V154V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.738 106872 chr22 51159583 51159583 C T rs764710574 SHANK3 Synonymous SNV L1169L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 10.05 106873 chr22 32617002 32617002 C T rs74530943 SLC5A4 Nonsynonymous SNV R558H 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 29 106874 chr2 100065959 100065959 G A rs754399591 REV1 Synonymous SNV S63S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 13.03 106875 chr22 32894334 32894334 T G FBXO7 Nonsynonymous SNV S383R 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 15.39 106876 chr2 120388162 120388162 A G CFAP221 Nonsynonymous SNV K583R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.9 106877 chr1 42921624 42921624 G A rs36121721 ZMYND12 Synonymous SNV L15L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.32 106878 chr1 43055140 43055140 A C rs61729297 CCDC30 Synonymous SNV R457R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.232 106879 chr1 43205696 43205696 C A rs12065961 CLDN19 Nonsynonymous SNV L13F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27 106880 chr1 43296572 43296572 C T rs33954154 ERMAP Synonymous SNV R73R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 12.74 106881 chr8 144358819 144358819 T G rs73378237 GLI4 Nonsynonymous SNV S326A 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.103 106882 chr1 43394612 43394612 T C rs2228490 SLC2A1 Synonymous SNV L355L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 6.537 106883 chr8 144358923 144358923 C T rs61732223 GLI4 Synonymous SNV F360F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.33 106884 chr8 144391638 144391638 G A rs112672243 TOP1MT Synonymous SNV A495A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.61 106885 chr1 43803807 43803807 G T rs17292650 MPL Nonsynonymous SNV K39N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.23 106886 chr8 144416973 144416973 G C rs201559470 TOP1MT Nonsynonymous SNV P20R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.13 106887 chr1 43919073 43919073 C A rs137998671 HYI Nonsynonymous SNV A99S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 106888 chr1 44010798 44010798 C T rs145508048 PTPRF Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 106889 chr8 144620810 144620810 G C rs10081594 ZC3H3 Nonsynonymous SNV L243V 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.002 106890 chr1 44069388 44069388 G A rs76320098 PTPRF Synonymous SNV L846L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.387 106891 chr8 144621015 144621015 C T rs10081449 ZC3H3 Synonymous SNV S174S 0.001 0 0.01 0 1 0 0 3 0 0 1 0 7.157 106892 chr20 60749592 60749592 G A rs58275873 SS18L1 Synonymous SNV P352P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 5.979 106893 chr2 128712575 128712575 T C rs143876896 SAP130 Nonsynonymous SNV M767V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 13.32 106894 chr1 44133647 44133647 A G rs74070653 KDM4A Nonsynonymous SNV M374V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.873 106895 chr2 128767929 128767929 A G rs35775122 SAP130 Synonymous SNV P287P 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 10.12 106896 chr2 128775464 128775464 A G rs6430968 SAP130 Synonymous SNV S72S 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 7.817 106897 chr1 44137291 44137291 G A rs35317523 KDM4A Synonymous SNV A493A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.424 106898 chr22 37688667 37688667 G A rs146584091 CYTH4 Nonsynonymous SNV A9T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.123 106899 chr2 128917277 128917277 G T rs141470228 UGGT1 Nonsynonymous SNV A849S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 5.593 106900 chr1 8418381 8418381 C T rs767001616 RERE Nonsynonymous SNV R851H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 106901 chr2 1161295 1161295 C T rs61744692 SNTG2 Nonsynonymous SNV A158V 0.013 0.003 0.003 4 15 1 0.01 1 0 0 0 0 20.3 106902 chr8 144809550 144809550 T A rs115863410 FAM83H Nonsynonymous SNV E694V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 24 106903 chr2 105472086 105472103 GGCGGGGGCGGCGCAGGG - POU3F3 A44_G49del 0.001 0 0 0 1 0 0 0 0 0 0 0 106904 chr8 144815291 144815291 A G rs6981062 MIR4664 0 0 0.01 0 0 0 0 3 0 0 0 0 6.003 106905 chr8 144874079 144874079 G A rs111739279 SCRIB Synonymous SNV L1554L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.02 106906 chr8 144885601 144885601 G A rs142247868 SCRIB Synonymous SNV T1185T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.761 106907 chr1 85724373 85724373 A G rs149930932 C1orf52 Synonymous SNV N103N 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 4.097 106908 chr1 46086481 46086481 G A rs764795876 CCDC17 Nonsynonymous SNV R542W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 32 106909 chr8 144940863 144940863 G A rs142954969 EPPK1 Nonsynonymous SNV L2187F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.76 106910 chr2 224642526 224642526 T C rs149183052 AP1S3 Nonsynonymous SNV T22A 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 0.38 106911 chr8 144944067 144944067 C T rs200211342 EPPK1 Nonsynonymous SNV A1119T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.899 106912 chr22 38271973 38271973 G A rs1014851306 EIF3L Synonymous SNV Q296Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 106913 chr1 46498071 46498071 G A rs200067664 MAST2 Nonsynonymous SNV V1137M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 29.7 106914 chr8 144944659 144944659 G A rs375984049 EPPK1 Synonymous SNV G921G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.912 106915 chr2 135887597 135887597 C T rs150478342 RAB3GAP1 Nonsynonymous SNV R336C 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 106916 chr8 144944864 144944864 C T rs182198840 EPPK1 Nonsynonymous SNV R853H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.357 106917 chr2 225661852 225661852 C T rs76100309 DOCK10 Synonymous SNV A1546A 0.01 0.005 0.014 5 12 2 0.013 4 0 1 0 0 11.45 106918 chr2 109429101 109429101 T C rs139596806 CCDC138 Synonymous SNV S285S 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 1.48 106919 chr8 144994212 144994212 A T rs34644439 PLEC Synonymous SNV S3245S 0.001 0 0.02 1 1 0 0.003 6 0 0 1 0 Benign/Likely benign 0.052 106920 chr8 144994916 144994916 C T rs35027700 PLEC Nonsynonymous SNV V3011I 0.001 0 0.02 1 1 0 0.003 6 0 0 1 0 Benign/Likely benign 2.422 106921 chr20 61944243 61944243 A G rs143321165 COL20A1 Nonsynonymous SNV Y678C 0.009 0.005 0.003 7 10 2 0.018 1 0 0 0 0 22 106922 chr8 144999224 144999224 C T rs187338487 PLEC Nonsynonymous SNV E1611K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.3 106923 chr22 45795041 45795041 A T rs180744096 SMC1B Nonsynonymous SNV S349R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 7.61 106924 chr8 144999453 144999453 C T rs62642470 PLEC Synonymous SNV A1534A 0.001 0 0.014 1 1 0 0.003 4 0 0 1 0 Benign/Likely benign 6.625 106925 chr1 47025944 47025944 A T MKNK1 Synonymous SNV A325A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 10.47 106926 chr8 145004185 145004185 C T rs78012434 PLEC Synonymous SNV L872L 0.001 0 0.01 1 1 0 0.003 3 0 0 1 0 Benign/Likely benign 12.88 106927 chr8 145006866 145006866 G A rs185978075 PLEC Synonymous SNV P570P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 7.32 106928 chr8 145007409 145007409 G A rs115081018 PLEC Synonymous SNV T444T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.565 106929 chr22 46098673 46098673 A G rs369800298 ATXN10 Nonsynonymous SNV N134S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 106930 chr1 47138781 47138781 A G TEX38 Nonsynonymous SNV T92A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.11 106931 chr1 89579871 89579871 A G rs890917770 GBP2 Nonsynonymous SNV V326A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 106932 chr8 145163428 145163428 G A rs76662347 WDR97 Synonymous SNV L153L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.88 106933 chr20 62199824 62199824 C T HELZ2 Synonymous SNV P539P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 106934 chr2 113785602 113785602 G A rs138243039 IL36B Stop gain Q118X 0.003 0 0 0 3 0 0 0 0 0 0 0 4.531 106935 chr22 50277494 50277494 G A rs149368184 ZBED4 Nonsynonymous SNV G62S 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.038 106936 chr20 62321660 62321660 C T rs761666401 RTEL1 Nonsynonymous SNV A537V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 2.884 106937 chr8 145532624 145532624 C T rs781833587 HSF1 Synonymous SNV G50G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 106938 chr1 89728437 89728437 G A rs145775181 GBP5 Nonsynonymous SNV S465F 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 23.4 106939 chr22 50303575 50303575 G A rs144665682 ALG12 Nonsynonymous SNV R211C 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign/Likely benign 10.15 106940 chr2 11758707 11758707 G A rs202215699 GREB1 Nonsynonymous SNV A1236T 0.014 0.008 0 6 16 3 0.015 0 0 0 0 0 Likely benign 0.044 106941 chr1 53158466 53158466 A C rs139564439 COA7 Nonsynonymous SNV F60L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.15 106942 chr2 131674317 131674317 G C ARHGEF4 Nonsynonymous SNV R933P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.56 106943 chr20 741706 741706 C A rs758484328 SLC52A3 Synonymous SNV S458S 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Likely benign 16.49 106944 chr8 145773764 145773764 C T rs139206529 ARHGAP39 Nonsynonymous SNV G236S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 106945 chr2 120980442 120980442 T C rs146656236 TMEM185B Synonymous SNV Q37Q 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 0.033 106946 chr2 157406277 157406277 C T rs777934202 GPD2 Synonymous SNV V273V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.57 106947 chr2 159536990 159536990 A T rs148782148 PKP4 Nonsynonymous SNV D1084V 0.01 0.013 0.003 1 12 5 0.003 1 0 0 0 0 Likely benign 26.3 106948 chr2 128324271 128324271 C G rs145802059 MYO7B Synonymous SNV L113L 0.004 0.003 0.01 5 5 1 0.013 3 0 0 0 0 11.23 106949 chr1 93169098 93169098 T C rs200417120 EVI5 Nonsynonymous SNV I184V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.667 106950 chr22 50921070 50921070 T C rs759547085 ADM2 Nonsynonymous SNV L62P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.084 106951 chr2 128903531 128903531 C T rs145894335 UGGT1 Nonsynonymous SNV A669V 0.008 0.003 0.01 5 9 1 0.013 3 0 0 0 0 Benign 26.8 106952 chr22 51121773 51121773 C T rs201282170 SHANK3 Synonymous SNV S372S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 13.04 106953 chr8 17942427 17942427 A T rs73198081 LOC101929066 0 0 0.01 0 0 0 0 3 0 0 0 0 2.356 106954 chr21 30380355 30380355 A T rs752874380 RWDD2B Nonsynonymous SNV I151K 0.004 0 0 0 5 0 0 0 0 0 0 0 26.8 106955 chr8 19316006 19316006 G A rs35868450 CSGALNACT1 Nonsynonymous SNV T261M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 22.8 106956 chr22 46658314 46658314 C T rs141932530 PKDREJ Synonymous SNV V302V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 106957 chr8 19316070 19316070 T C rs151311119 CSGALNACT1 Nonsynonymous SNV I240V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.313 106958 chr1 62579918 62579918 G A rs144362185 PATJ Nonsynonymous SNV R1552Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 106959 chr2 138373778 138373778 C T THSD7B Nonsynonymous SNV R1153C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 106960 chr2 105665809 105665809 G A rs998019276 MRPS9 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 106961 chr8 22451378 22451378 C A rs180868504 PDLIM2 Synonymous SNV A338A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 106962 chr21 34011387 34011387 G A rs149288077 SYNJ1 Nonsynonymous SNV P1202L 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 0.846 106963 chr2 103063662 103063662 T C rs373102839 IL18RAP Nonsynonymous SNV L402P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.6 106964 chr8 22960654 22960654 C T rs10107826 TNFRSF10C Nonsynonymous SNV T7I 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 8.495 106965 chr8 22960655 22960655 C T rs10107827 TNFRSF10C Synonymous SNV T7T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 12.47 106966 chr2 240111580 240111580 C T HDAC4 Synonymous SNV Q96Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 106967 chr2 108998301 108998301 C T rs77662685 SULT1C4 Stop gain R85X 0.005 0 0 4 6 0 0.01 0 0 0 0 0 35 106968 chr8 23082477 23082477 G A rs20577 TNFRSF10A Nonsynonymous SNV T33I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 12.93 106969 chr2 171070982 171070982 G A rs114349107 MYO3B Nonsynonymous SNV G139R 0.001 0.016 0 0 1 6 0 0 0 0 0 0 34 106970 chr2 165765161 165765161 G C SLC38A11 Nonsynonymous SNV L240V 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 24.9 106971 chr2 15448413 15448413 G A rs755706575 NBAS Nonsynonymous SNV A1575V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.9 106972 chr2 179446381 179446381 C T rs72646869 TTN Nonsynonymous SNV R13140K 0.018 0.008 0.01 12 21 3 0.031 3 0 0 0 0 Benign/Likely benign 22.8 106973 chr1 74507042 74507042 G A rs78197692 LRRIQ3 Nonsynonymous SNV R525C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.4 106974 chr8 30705760 30705760 T C rs762231488 TEX15 Synonymous SNV K641K 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.006 106975 chr8 31497511 31497511 G C rs367543150 NRG1 Nonsynonymous SNV R4P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 not provided 23.8 106976 chr1 75602801 75602801 C T rs141641179 LHX8 Nonsynonymous SNV A31V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 23.6 106977 chr8 3245142 3245142 C T rs181981898 CSMD1 Nonsynonymous SNV G886S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.2 106978 chr1 76877779 76877779 A C rs367711575 ST6GALNAC3 Synonymous SNV R35R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 106979 chr2 26410541 26410541 C T rs757179170 GAREM2 Synonymous SNV P680P 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 0.366 106980 chr8 39312966 39312966 A - rs76855595 ADAM3A 0 0 0.112 0 0 0 0 33 0 0 10 0 106981 chr8 39331031 39331031 T C rs7465396 ADAM3A 0 0 0.105 0 0 0 0 31 0 0 9 0 1.736 106982 chr8 39836641 39836641 A C rs370957046 IDO2 Nonsynonymous SNV H97P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 106983 chr8 42206559 42206559 A G rs147215490 POLB Nonsynonymous SNV E71G 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 23.3 106984 chr2 109086527 109086527 C G rs149070749 GCC2 Nonsynonymous SNV H248D 0.003 0 0 0 4 0 0 0 0 0 0 0 12.87 106985 chr8 52321799 52321799 G A rs755904480 PXDNL Synonymous SNV P795P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.182 106986 chr2 179615321 179615321 G T rs147087155 TTN Synonymous SNV R3936R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 6.339 106987 chr1 86048579 86048579 C T rs9658587 CCN1 Nonsynonymous SNV R334W 0.004 0.016 0 2 5 6 0.005 0 0 0 0 0 29.5 106988 chr2 133540176 133540176 A G rs2278752 NCKAP5 Nonsynonymous SNV V1403A 0.006 0.008 0.017 0 7 3 0 5 0 0 0 0 0.001 106989 chr2 28771771 28771771 C T rs144322203 PLB1 Synonymous SNV H338H 0.014 0.018 0.007 2 16 7 0.005 2 0 0 0 0 Likely benign 8.605 106990 chr8 56363436 56363436 C T rs72645681 SBF1P1 0 0 0.058 0 0 0 0 17 0 0 0 0 0.008 106991 chr2 128339583 128339583 A C MYO7B Nonsynonymous SNV K400Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 106992 chr1 876588 876588 C A SAMD11 Synonymous SNV A257A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 106993 chr2 170592539 170592539 G T rs749279885 KLHL23, PHOSPHO2-KLHL23 Nonsynonymous SNV V339L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 106994 chr1 878187 878187 G A SAMD11 Nonsynonymous SNV G438D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.459 106995 chr8 59412620 59412620 G A rs147162838 CYP7A1 Nonsynonymous SNV A13V 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.162 106996 chr8 59520366 59520366 G A rs144608080 NSMAF Nonsynonymous SNV R272C 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 106997 chr20 29960767 29960767 A G rs34173055 DEFB118 Nonsynonymous SNV I56V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 106998 chr20 29960802 29960802 G A rs146851225 DEFB118 Synonymous SNV A67A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.344 106999 chr8 61654723 61654723 C G rs779776551 CHD7 Nonsynonymous SNV S244R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 107000 chr20 29976830 29976830 A C rs12329612 DEFB119 X88E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.018 107001 chr20 29977011 29977011 G A rs6120064 DEFB119 Synonymous SNV H27H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.135 107002 chr20 29977012 29977012 T C rs6120065 DEFB119 Nonsynonymous SNV H27R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.05 107003 chr2 116101477 116101477 G A rs138406948 DPP10 Nonsynonymous SNV R80Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 107004 chr2 29543740 29543740 G T ALK Nonsynonymous SNV P475T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 107005 chr2 175436690 175436690 C T rs369696922 WIPF1 Synonymous SNV A281A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.96 107006 chr2 31572635 31572635 A G XDH Synonymous SNV G962G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 2.266 107007 chr2 190327275 190327275 A G WDR75 Nonsynonymous SNV N282D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.4 107008 chr2 32693056 32693056 C G BIRC6 Nonsynonymous SNV P1886R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 27.4 107009 chr8 67335634 67335634 A G rs77377708 RRS1-AS1 0 0 0.024 0 0 0 0 7 0 0 1 0 0.116 107010 chr2 186659402 186659402 C T rs116830639 FSIP2 Synonymous SNV N2513N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 2.5 107011 chr2 136467717 136467717 G A rs147882808 R3HDM1 Synonymous SNV P721P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.137 107012 chr2 186666026 186666026 T A rs201539973 FSIP2 Nonsynonymous SNV I3998N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.5 107013 chr2 33817275 33817275 C T rs150018220 FAM98A Nonsynonymous SNV S70N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.1 107014 chr2 120388154 120388154 A G rs61729721 CFAP221 Synonymous SNV Q580Q 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 0.048 107015 chr2 179209068 179209068 C T rs137879178 OSBPL6 Nonsynonymous SNV A327V 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 23.7 107016 chr2 137990678 137990678 C T rs16838413 THSD7B Nonsynonymous SNV H709Y 0.011 0.01 0.003 3 13 4 0.008 1 0 0 0 0 23.6 107017 chr2 37036095 37036095 G A rs767426468 VIT Nonsynonymous SNV V588I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 107018 chr8 70978677 70978677 A G rs759502844 PRDM14 Nonsynonymous SNV S326P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 107019 chr21 47819594 47819594 A T rs180775012 PCNT Nonsynonymous SNV M1441L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Uncertain significance 0.717 107020 chr2 187605000 187605000 G A rs73979354 FAM171B Nonsynonymous SNV R95H 0.01 0.005 0.014 0 12 2 0 4 0 0 0 0 Benign 19.59 107021 chr2 159518083 159518083 C T rs181719205 PKP4-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 8.178 107022 chr8 72965721 72965721 C T rs16937943 MSC-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 2.976 107023 chr2 197184268 197184270 CTC - rs562760525 HECW2 R92del 0.009 0.021 0 6 11 8 0.015 0 1 0 0 0 107024 chr2 187692999 187692999 G A rs78358837 ZSWIM2 Synonymous SNV H538H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.004 107025 chr2 179429387 179429387 G C rs200771189 TTN Nonsynonymous SNV P18093A 0.01 0.003 0 4 12 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.895 107026 chr2 38525607 38525607 T C rs61756317 ATL2 Synonymous SNV G266G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.437 107027 chr2 201857668 201857668 G T rs763620315 FAM126B Synonymous SNV R229R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.36 107028 chr2 39089456 39089456 C T rs759902021 DHX57 Nonsynonymous SNV E33K 0.002 0 0 0 2 0 0 0 0 0 0 0 27 107029 chr20 3529817 3529817 G C ATRN Nonsynonymous SNV G199A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 107030 chr1 94354639 94354639 C T rs35267053 GCLM Synonymous SNV P222P 0.003 0 0 0 4 0 0 0 0 0 0 0 13.32 107031 chr2 42991306 42991306 C T rs140987475 OXER1 Nonsynonymous SNV R5H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.49 107032 chr22 20103803 20103803 A C rs201632920 RANBP1, TRMT2A Synonymous SNV A32A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.628 107033 chr2 153575346 153575346 C T rs768658181 ARL6IP6 Nonsynonymous SNV R70C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 107034 chr2 192700746 192700746 C G CAVIN2 Nonsynonymous SNV R394P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 107035 chr2 203058186 203058186 G A rs781190070 KIAA2012 Nonsynonymous SNV E992K 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 25.1 107036 chr22 21141256 21141256 C T rs769774770 SERPIND1 Nonsynonymous SNV R468C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 107037 chr2 15496487 15496487 C T NBAS Nonsynonymous SNV A1291T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 107038 chr2 196788484 196788484 A C DNAH7 Nonsynonymous SNV I1220M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 107039 chr22 21212967 21212972 CCGCCT - rs532050128 PI4KA G17_G18del 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 107040 chr2 196799394 196799394 A G rs76561342 DNAH7 Nonsynonymous SNV I1131T 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 25.5 107041 chr1 9657037 9657037 C G rs141162024 TMEM201 Nonsynonymous SNV L119V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 107042 chr20 3687772 3687772 C T rs147471035 SIGLEC1 Nonsynonymous SNV G2S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.679 107043 chr2 44051187 44051187 C T rs773776535 ABCG5 Nonsynonymous SNV G397S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 107044 chr22 21354970 21354970 C A rs426938 THAP7 Nonsynonymous SNV A115S 0.019 0.023 0.014 8 22 9 0.021 4 0 0 0 0 0.168 107045 chr2 197631303 197631303 G C rs144612738 GTF3C3 Nonsynonymous SNV P842A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.76 107046 chr20 372076 372076 G A rs41281850 TRIB3 Nonsynonymous SNV S146N 0.002 0.01 0.024 1 2 4 0.003 7 0 0 0 0 26.8 107047 chr22 21983445 21983445 C T rs573816043 YDJC Synonymous SNV Q152Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.21 107048 chr2 168098296 168098296 C T rs111563369 XIRP2 Nonsynonymous SNV T129I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 22.5 107049 chr2 169707648 169707648 C T NOSTRIN Stop gain Q201X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 107050 chr2 207008753 207008753 C T rs762397149 NDUFS1 Nonsynonymous SNV V215I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.99 107051 chr2 48049358 48049358 A G rs753056273 FBXO11 Synonymous SNV Y567Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.853 107052 chr2 208633009 208633009 C T rs61733651 FZD5 Nonsynonymous SNV R152H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.5 107053 chr20 43348653 43348653 G A rs33932543 CCN5 Nonsynonymous SNV R59Q 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 23.1 107054 chr20 43374770 43374770 C T rs183287561 KCNK15 Synonymous SNV R73R 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 18.87 107055 chr2 208994187 208994187 C T rs201699850 CRYGC Nonsynonymous SNV R77H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 107056 chr2 15746306 15746306 G C rs774850505 DDX1 Nonsynonymous SNV E245D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.23 107057 chr2 171627576 171627576 G T rs562381606 ERICH2 Nonsynonymous SNV V129L 0.005 0.01 0.003 4 6 4 0.01 1 0 0 0 0 8.553 107058 chr2 204131251 204131251 A G rs376437549 CYP20A1 Synonymous SNV L47L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.833 107059 chr20 43930036 43930036 C A rs117930972 MATN4 Nonsynonymous SNV V231F 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 17.81 107060 chr2 173349988 173349988 T C rs148815652 ITGA6 Nonsynonymous SNV I617T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.217 107061 chr2 63223861 63223861 C G rs145427390 EHBP1 Synonymous SNV A1021A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.18 107062 chr2 64863686 64863686 A G SERTAD2 Nonsynonymous SNV F107S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 107063 chr22 26423285 26423285 C T rs149103381 MYO18B Nonsynonymous SNV R2450W 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 107064 chr20 17639906 17639906 T G rs112570178 RRBP1 Nonsynonymous SNV Q416P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 4.309 107065 chr2 162276712 162276712 A G rs79294493 TBR1 Synonymous SNV T378T 0.003 0.01 0.01 0 3 4 0 3 0 0 0 0 Benign 0.532 107066 chr2 18768318 18768318 C T rs150116798 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV R81H 0.01 0.008 0 4 12 3 0.01 0 0 0 0 1 22.8 107067 chr22 28395151 28395151 C A TTC28 Nonsynonymous SNV W1499L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.3 107068 chr20 46264372 46264372 T G rs150487414 NCOA3 Synonymous SNV L473L 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 0.535 107069 chr2 179428990 179428990 C G rs200240728 TTN Nonsynonymous SNV G18225A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 17.09 107070 chr2 216257679 216257679 G C FN1 Synonymous SNV A1348A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 3.815 107071 chr9 108234375 108234375 A G rs115903796 FSD1L Nonsynonymous SNV Y145C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.21 107072 chr9 108284277 108284277 C G rs112095599 RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.986 107073 chr9 108286904 108286904 C T rs145054512 RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.187 107074 chr2 210559255 210559255 G A rs373702192 MAP2 Synonymous SNV E783E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.684 107075 chr9 108286964 108286964 G A rs113163845 RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.537 107076 chr9 108288173 108288173 A G rs112443099 RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.65 107077 chr9 108536246 108536246 G C rs35232724 TMEM38B Nonsynonymous SNV C254S 0.003 0.003 0.017 0 3 1 0 5 0 0 0 0 Benign 0.022 107078 chr2 219129289 219129289 C T rs149502890 AAMP Synonymous SNV A424A 0.014 0.01 0.014 3 17 4 0.008 4 0 0 0 0 19.85 107079 chr2 212568843 212568843 T C ERBB4 Synonymous SNV G425G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.696 107080 chr2 219251927 219251927 T C rs145226482 SLC11A1 Nonsynonymous SNV F182S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.4 107081 chr2 219499248 219499248 C T rs371190067 PLCD4 Synonymous SNV G597G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.2 107082 chr2 219603501 219603501 T - TTLL4 F368Sfs*17 0.003 0.003 0 0 4 1 0 0 0 0 0 0 107083 chr2 202060597 202060597 G C rs778773099 CASP10 Nonsynonymous SNV E204Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 107084 chr22 32546330 32546330 A G rs370721565 C22orf42 Synonymous SNV L210L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.548 107085 chr2 203420375 203420375 T C rs969875481 BMPR2 Synonymous SNV L663L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.162 107086 chr20 3145490 3145490 G A rs372088602 LZTS3 Synonymous SNV R544R 0.01 0.016 0.003 2 12 6 0.005 1 0 0 0 0 4.393 107087 chr2 177134368 177134368 T C MTX2 Nonsynonymous SNV V4A 0.003 0 0 0 3 0 0 0 0 0 0 0 17.44 107088 chr2 179426122 179426122 G A rs755762249 TTN Nonsynonymous SNV P19181L 0.003 0 0 0 4 0 0 0 0 0 0 0 21.2 107089 chr20 60427938 60427938 C T rs2229574 CDH4 Synonymous SNV D250D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 16.97 107090 chr9 121929828 121929828 C T rs150796528 BRINP1 Nonsynonymous SNV R607Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 107091 chr22 38061816 38061816 G A rs140970741 PDXP Nonsynonymous SNV D277N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 107092 chr2 223339430 223339430 G A rs142977718 SGPP2 Synonymous SNV L121L 0.006 0.008 0 0 7 3 0 0 0 0 0 0 6.601 107093 chr2 224856561 224856561 T C rs752463334 SERPINE2 Nonsynonymous SNV Y215C 0.007 0.008 0 0 8 3 0 0 0 0 0 0 23.9 107094 chr2 97007807 97007807 A G NCAPH Nonsynonymous SNV T87A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.611 107095 chr2 210560610 210560610 T G rs200437236 MAP2 Nonsynonymous SNV I1235R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 107096 chr22 40066191 40066191 G A rs201480163 CACNA1I Nonsynonymous SNV R1413Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.7 107097 chr20 34526853 34526853 C T rs17347322 PHF20 Synonymous SNV R845R 0.013 0.01 0.01 2 15 4 0.005 3 0 0 0 0 Benign 14.21 107098 chr9 125486686 125486686 T C rs149895531 OR1L4 Nonsynonymous SNV W140R 0 0.003 0.027 0 0 1 0 8 0 0 0 0 0.001 107099 chr9 125486697 125486697 A G rs534858449 OR1L4 Synonymous SNV L143L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.084 107100 chr9 125486717 125486717 G A rs76170289 OR1L4 Nonsynonymous SNV C150Y 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 24.4 107101 chr2 196659081 196659081 A G rs111705343 DNAH7 Nonsynonymous SNV F3566S 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 25.5 107102 chr2 220466006 220466006 A G rs369023301 STK11IP Synonymous SNV T37T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.417 107103 chr2 197729785 197729785 C A PGAP1 Nonsynonymous SNV G207V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 107104 chr2 180008500 180008500 C T rs780970875 SESTD1 Nonsynonymous SNV R223H 0.003 0 0 0 4 0 0 0 0 0 0 0 27.5 107105 chr2 215884092 215884092 A G rs114651183 ABCA12 Nonsynonymous SNV V224A 0.016 0.021 0 14 19 8 0.036 0 0 0 0 0 Benign 22.8 107106 chr2 231775001 231775001 T C GPR55 Nonsynonymous SNV Y226C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.631 107107 chr2 201507387 201507387 C T rs369320698 AOX1 Nonsynonymous SNV R904C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.9 107108 chr20 62196182 62196182 G A rs3810488 HELZ2 Synonymous SNV A762A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 5.451 107109 chr2 233200 233200 C T rs902274112 SH3YL1 Nonsynonymous SNV S145N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 107110 chr9 129089235 129089235 G A rs76544515 MVB12B Synonymous SNV R9R 0.002 0.005 0.003 0 2 2 0 1 0 1 0 0 12.92 107111 chr2 202677263 202677263 C G rs55702519 CDK15 Synonymous SNV V142V 0.02 0.023 0.024 11 23 9 0.028 7 0 0 1 0 13.02 107112 chr2 203054981 203054981 T C KIAA2012 Nonsynonymous SNV L859P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 107113 chr2 1921083 1921083 G A rs148988262 MYT1L Synonymous SNV S504S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 9.357 107114 chr20 62614448 62614448 A G rs34062309 PRPF6 Synonymous SNV A40A 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Benign 4.982 107115 chr9 131071922 131071922 C T rs2231642 TRUB2 Synonymous SNV G257G 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign 9.556 107116 chr20 62679873 62679873 C T rs183578654 SOX18 Synonymous SNV A267A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 14.82 107117 chr20 62705713 62705713 C T rs145771535 RGS19 Synonymous SNV E82E 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 13.39 107118 chr22 45130976 45130976 T C rs766831276 PRR5 Nonsynonymous SNV S114P 0.003 0 0 0 4 0 0 0 0 0 0 0 29.4 107119 chr9 131849036 131849036 C T rs7046961 DOLPP1 Synonymous SNV N170N 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 14.51 107120 chr20 9424868 9424868 C A rs148347249 PLCB4 Nonsynonymous SNV S941Y 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 Benign/Likely benign 29.5 107121 chr9 132397680 132397680 C T NTMT1 Synonymous SNV A115A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 107122 chr2 234229395 234229395 G A rs141521563 SAG Nonsynonymous SNV A101T 0.01 0.005 0.014 3 12 2 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 7.521 107123 chr2 220408117 220408117 A C rs370619663 CHPF Synonymous SNV S48S 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 0.988 107124 chr9 134433529 134433529 C T rs147110490 PRRT1B Synonymous SNV F249F 0 0 0.01 0 0 0 0 3 0 0 0 0 21.4 107125 chr9 134433562 134433562 C T rs34226924 PRRT1B Synonymous SNV Y260Y 0 0 0.068 0 0 0 0 20 0 0 1 0 21.4 107126 chr2 220420763 220420763 G A rs201893489 OBSL1 Synonymous SNV L1530L 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.836 107127 chr22 50893019 50893019 C G rs147869659 SBF1 Nonsynonymous SNV Q1630H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 24.2 107128 chr3 121203921 121203921 A G rs201481708 POLQ Nonsynonymous SNV Y1914H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 107129 chr22 50928012 50928012 G A rs41280567 MIOX Nonsynonymous SNV D230N 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 23 107130 chr2 239039312 239039312 C T rs76758152 ESPNL Nonsynonymous SNV R285W 0.006 0.013 0.014 3 7 5 0.008 4 0 0 0 0 24.5 107131 chr22 51018428 51018428 G A rs147485527 CHKB Nonsynonymous SNV T301I 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 13.9 107132 chr9 136208442 136208442 C T rs78711238 MED22 Synonymous SNV A172A 0.008 0.005 0.014 3 9 2 0.008 4 0 0 0 0 19.36 107133 chr2 237489232 237489232 G A rs146407095 ACKR3 Nonsynonymous SNV V42I 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.014 107134 chr2 240078397 240078397 C T rs144387989 HDAC4 Synonymous SNV P228P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 13.4 107135 chr2 218935563 218935563 G A RUFY4 Nonsynonymous SNV C45Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 107136 chr3 122849385 122849385 G A rs779554214 PDIA5 Nonsynonymous SNV V278I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 107137 chr2 210588405 210588405 C T rs115065247 MAP2 Synonymous SNV G364G 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 22.6 107138 chr9 137741993 137741993 G A rs34933499 MIR3689B 0 0 0.017 0 0 0 0 5 0 0 0 0 4.231 107139 chr2 230861510 230861510 C T FBXO36 Synonymous SNV V83V 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 7.654 107140 chr2 231035398 231035398 G A rs199521985 SP110 Nonsynonymous SNV T632M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 107141 chr2 215865740 215865740 A C rs141615275 ABCA12 Synonymous SNV V638V 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.042 107142 chr2 231867457 231867457 T C SPATA3 Nonsynonymous SNV C178R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 107143 chr21 38495289 38495289 C T TTC3 Nonsynonymous SNV T47I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24 107144 chr2 216274455 216274455 G A rs140116931 FN1 Synonymous SNV T710T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 16.32 107145 chr2 241536114 241536114 G C rs201527381 CAPN10 Nonsynonymous SNV A500P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.047 107146 chr2 108863743 108863743 A T rs779993854 SULT1C3 Nonsynonymous SNV L31F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 107147 chr2 241858236 241858236 G A rs540779159 CROCC2 Nonsynonymous SNV V58M 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 3.93 107148 chr2 233404771 233404771 G A rs148468628 CHRNG Nonsynonymous SNV R42Q 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 107149 chr3 12660096 12660096 G A rs11549992 RAF1 Nonsynonymous SNV A42V 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Likely benign 22.9 107150 chr2 109087329 109087329 A G rs148359301 GCC2 Nonsynonymous SNV D515G 0.004 0 0 0 5 0 0 0 0 0 0 0 15.76 107151 chr3 12660097 12660097 C T rs200856000 RAF1 Nonsynonymous SNV A42T 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Likely benign 23.6 107152 chr9 139616411 139616411 C A DIPK1B Synonymous SNV V79V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 107153 chr2 220379126 220379126 - CTCG rs752410085 ASIC4 Frameshift insertion G26Rfs*8 0.002 0 0 0 2 0 0 0 0 0 0 0 107154 chr2 25463190 25463190 T A DNMT3A Nonsynonymous SNV D616V 0 0.003 0 0 0 1 0 0 0 0 0 0 31 107155 chr2 234181633 234181633 T C rs148404040 ATG16L1 Synonymous SNV I99I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.15 107156 chr2 211069376 211069376 G A rs200297060 ACADL Nonsynonymous SNV R267W 0.015 0.01 0 11 18 4 0.028 0 1 0 0 0 25.2 107157 chr2 219503068 219503068 C T ZNF142 Synonymous SNV E1686E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 107158 chr9 139889727 139889727 G A rs149536497 CLIC3 Nonsynonymous SNV P96L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.3 107159 chr2 113082614 113082614 G T ZC3H6 Synonymous SNV G642G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.41 107160 chr3 12942502 12942502 C T rs746398130 IQSEC1 Nonsynonymous SNV G1109S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.88 107161 chr9 140002923 140002923 C T rs140496149 MAN1B1 Synonymous SNV F660F 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.03 107162 chr2 220501064 220501064 C T rs113725667 SLC4A3 Synonymous SNV I771I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.97 107163 chr9 140174198 140174198 C T TOR4A Nonsynonymous SNV P353S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 107164 chr9 140201433 140201433 G A rs118011827 EXD3 Nonsynonymous SNV P867L 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 0.564 107165 chr2 114476839 114476839 A C rs146995908 SLC35F5 Nonsynonymous SNV F457C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 23.6 107166 chr2 28627108 28627108 G A rs139227976 FOSL2 Synonymous SNV S79S 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 12.42 107167 chr9 14792834 14792834 A C rs764899314 FREM1 Nonsynonymous SNV S1296R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.2 107168 chr3 13407559 13407559 C T rs374356004 NUP210 Nonsynonymous SNV G607S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 17.34 107169 chr2 226378241 226378241 G A rs61752215 NYAP2 Nonsynonymous SNV G126S 0.02 0.021 0.02 4 23 8 0.01 6 0 1 0 0 14.87 107170 chr2 226378242 226378242 G A rs61753537 NYAP2 Nonsynonymous SNV G126D 0.02 0.021 0.02 4 23 8 0.01 6 0 1 0 0 23.5 107171 chr2 226491670 226491670 G A rs61743982 NYAP2 Synonymous SNV T552T 0.013 0.013 0.017 1 15 5 0.003 5 0 1 0 0 12.49 107172 chr2 241536279 241536279 C T rs201157354 CAPN10 Nonsynonymous SNV R555C 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Likely benign 33 107173 chr2 227663091 227663091 C G rs559822183 IRS1 Nonsynonymous SNV D122H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 107174 chr2 128415124 128415124 G A rs755783718 LIMS2 Synonymous SNV D8D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.031 107175 chr9 20502274 20502274 G T rs74428911 MIR4474 0 0 0.027 0 0 0 0 8 0 0 0 0 4.49 107176 chr2 37028486 37028486 T C rs2072527 VIT Synonymous SNV N331N 0.009 0.005 0.003 5 10 2 0.013 1 1 0 0 0 0.304 107177 chr2 37035945 37035945 C A rs2072525 VIT Nonsynonymous SNV L538I 0.009 0.005 0.003 5 10 2 0.013 1 1 0 0 0 23.2 107178 chr2 37041439 37041439 C T rs11901202 VIT Nonsynonymous SNV H637Y 0.009 0.005 0.01 5 11 2 0.013 3 1 0 0 0 12.16 107179 chr2 30863224 30863224 C T rs138425181 LCLAT1 Synonymous SNV T290T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.252 107180 chr2 231683401 231683401 A G rs773790736 CAB39 Synonymous SNV P336P 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 6.493 107181 chr20 7963021 7963021 C T rs140971821 TMX4 Synonymous SNV R309R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.91 107182 chr2 24260774 24260774 G T rs775552056 WDCP Nonsynonymous SNV P531T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.6 107183 chr2 135976654 135976654 C T rs774807770 ZRANB3 Nonsynonymous SNV R780H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 34 107184 chr2 32706513 32706513 G T rs146185570 BIRC6 Nonsynonymous SNV V2512F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 32 107185 chr9 32631388 32631388 C T rs139533090 TAF1L Nonsynonymous SNV R1397H 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 24.8 107186 chr3 148925298 148925298 T C CP Synonymous SNV A296A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.086 107187 chr9 33463295 33463295 T G rs115075270 NOL6 Nonsynonymous SNV M1047L 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 8.35 107188 chr2 137814709 137814709 C T rs138536184 THSD7B Nonsynonymous SNV H287Y 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 23.2 107189 chr9 34241890 34241890 C G UBAP1 Nonsynonymous SNV S353R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 107190 chr2 234891850 234891850 G A rs149328116 TRPM8 Nonsynonymous SNV V915M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.2 107191 chr2 140995843 140995843 G A rs75758215 LRP1B Nonsynonymous SNV P4480S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 25.1 107192 chr9 35683240 35683240 - GG rs35401252 TPM2 0 0 0.024 1 0 0 0.003 7 0 0 1 0 107193 chr2 26534454 26534454 G A rs114938027 ADGRF3 Synonymous SNV H515H 0.015 0.016 0.01 10 18 6 0.026 3 0 0 0 0 0.459 107194 chr2 47202144 47202144 G A rs769450594 TTC7A Nonsynonymous SNV A184T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 107195 chr22 18379640 18379640 C T rs61739477 MICAL3 Synonymous SNV P352P 0.02 0.008 0.017 3 23 3 0.008 5 0 0 0 0 12.37 107196 chr2 234835194 234835194 G A rs149800225 TRPM8 Synonymous SNV R4R 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Likely benign 2.961 107197 chr22 19471506 19471506 A G rs9606030 CDC45 Nonsynonymous SNV E109G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.85 107198 chr2 55214639 55214639 C G rs11549898 RTN4 Nonsynonymous SNV G77A 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Likely benign 31 107199 chr22 21153964 21153964 G A rs61752247 PI4KA Synonymous SNV S583S 0.018 0.039 0.014 4 21 15 0.01 4 0 0 1 0 11.35 107200 chr9 6610329 6610329 A G rs150193069 GLDC Synonymous SNV P166P 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.039 107201 chr2 48026102 48026102 C G rs369568820 MSH6 Nonsynonymous SNV T197S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 1.249 107202 chr2 233406178 233406178 G A rs2289080 CHRNG Nonsynonymous SNV A149T 0.01 0.005 0.01 5 12 2 0.013 3 0 0 0 0 Benign/Likely benign 14.91 107203 chr3 167339297 167339297 A C rs199768118 WDR49 Nonsynonymous SNV D247E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.87 107204 chr2 5834014 5834014 C T rs923850664 SOX11 Synonymous SNV A387A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.31 107205 chr2 241468750 241468750 G T rs150525285 ANKMY1 Synonymous SNV A130A 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 0.231 107206 chr2 66666588 66666588 G A rs112821529 MEIS1-AS2 0 0.003 0.027 0 0 1 0 8 0 0 0 0 5.019 107207 chr9 74332957 74332957 C T rs533972465 CEMIP2 Nonsynonymous SNV R706H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 107208 chr2 29296666 29296666 T C rs369814456 PCARE Synonymous SNV S154S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 107209 chr2 241685199 241685199 C T rs200149062 KIF1A Synonymous SNV A1009A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 107210 chr2 69092838 69092838 G A rs773363939 BMP10 Synonymous SNV L400L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.793 107211 chr9 78789958 78789958 C T rs752940234 PCSK5 Nonsynonymous SNV P605S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 107212 chr2 58276070 58276070 T C rs144870539 VRK2 Nonsynonymous SNV I35T 0.01 0.008 0 4 12 3 0.01 0 0 0 0 0 26.6 107213 chr2 61024239 61024239 C G rs200954680 PAPOLG Nonsynonymous SNV P719A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 25 107214 chr2 242135265 242135265 G A rs77559646 ANO7 Nonsynonymous SNV R104H 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 2.574 107215 chr2 62227996 62227996 G A rs367754580 COMMD1 Nonsynonymous SNV R48H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 107216 chr3 182872013 182872013 A G rs759272220 LAMP3 Synonymous SNV H72H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.003 107217 chr2 37458668 37458668 G A rs3213746 CEBPZ Nonsynonymous SNV P15S 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 24.2 107218 chr2 71337203 71337203 C T rs115175255 MCEE Nonsynonymous SNV R143H 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign 27.3 107219 chr2 239013433 239013433 G T rs147264039 ESPNL Nonsynonymous SNV A208S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.573 107220 chr2 71360060 71360060 C A rs138723053 MPHOSPH10 Nonsynonymous SNV S41Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 19.63 107221 chr2 71360100 71360100 G A rs72905506 MPHOSPH10 Synonymous SNV E54E 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 10.93 107222 chr2 167318913 167318913 C T rs200494318 SCN7A Nonsynonymous SNV V357I 0.002 0.01 0 0 2 4 0 0 0 0 0 0 11.27 107223 chr2 71360399 71360399 A G rs76328738 MPHOSPH10 Nonsynonymous SNV N154S 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign 0.001 107224 chr2 38537481 38537481 T C rs138223839 ATL2 Nonsynonymous SNV T134A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 107225 chr21 42762528 42762528 C A rs138600033 MX2 Nonsynonymous SNV Q257K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.7 107226 chr9 8499717 8499717 T A rs199632354 PTPRD Nonsynonymous SNV Y751F 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.1 107227 chr21 42851134 42851134 G A rs141788162 TMPRSS2 Synonymous SNV A253A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.771 107228 chr2 168107747 168107747 A G rs190407445 XIRP2 Nonsynonymous SNV H3060R 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Likely benign 0.001 107229 chr2 168115730 168115730 C T rs200386467 XIRP2 Nonsynonymous SNV R670C 0.002 0.01 0 0 2 4 0 0 0 0 0 0 5.12 107230 chr2 74040982 74040982 T C rs184000261 C2orf78 Nonsynonymous SNV M159T 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 0.188 107231 chr2 240111556 240111556 G A rs6740794 HDAC4 Synonymous SNV H104H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.693 107232 chr22 28503594 28503594 C T TTC28 Nonsynonymous SNV V747I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 107233 chr9 91360752 91360752 G A MIR4289 0 0 0.003 0 0 0 0 1 0 0 0 0 6.324 107234 chr2 74718273 74718273 C T rs199547144 TTC31 Stop gain R189X 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 36 107235 chr2 27306455 27306455 C T rs36035398 EMILIN1 Synonymous SNV G672G 0.007 0.013 0.017 3 8 5 0.008 5 0 0 0 0 Benign 11.86 107236 chr2 74746843 74746843 C T rs755644140 DQX1 Nonsynonymous SNV R549Q 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 16.8 107237 chr3 186281802 186281802 A G TBCCD1 Nonsynonymous SNV V106A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.63 107238 chr2 24300525 24300525 G T TP53I3 Nonsynonymous SNV D242E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.02 107239 chr2 241976313 241976313 G A rs371996468 SNED1 Synonymous SNV T304T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 107240 chr2 71909662 71909662 G A rs763205852 DYSF Nonsynonymous SNV R2006H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 107241 chr2 27745373 27745373 G A rs8179249 GCKR Nonsynonymous SNV R540Q 0.019 0.013 0.02 5 22 5 0.013 6 1 0 0 0 8.205 107242 chr3 186917279 186917279 A T rs149813250 LOC101929106 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.466 107243 chr2 26407937 26407937 A G rs181971256 GAREM2 Nonsynonymous SNV Q330R 0.018 0.016 0.031 8 21 6 0.021 9 4 1 0 1 10.8 107244 chr21 44299573 44299573 C T rs138295040 WDR4 Synonymous SNV G11G 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 12.64 107245 chr2 242756247 242756247 C T rs146496787 NEU4 Synonymous SNV N133N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 12.22 107246 chrM 3012 3012 G A RNR2 0 0 0.129 0 0 0 0 38 0 0 19 0 107247 chr2 74688694 74688694 C T rs768870045 MOGS Nonsynonymous SNV R741H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.1 107248 chrX 104464674 104464674 G A rs183606927 TEX13A Synonymous SNV L136L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 4.391 107249 chr2 86716518 86716518 G A rs113985244 KDM3A Nonsynonymous SNV V1131I 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 31 107250 chr2 179441932 179441932 G A rs55980498 TTN Nonsynonymous SNV P13979S 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.94 107251 chr2 74750253 74750253 G A rs146840492 DQX1 Synonymous SNV F379F 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 2.522 107252 chrX 111698312 111698312 G A RTL4 Nonsynonymous SNV S119N 0 0 0.007 0 0 0 0 2 0 0 1 0 0.016 107253 chr2 287646 287646 G T rs1023151733 ALKAL2 Synonymous SNV R64R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.847 107254 chr22 32914237 32914237 G A SYN3 Nonsynonymous SNV P467L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 107255 chr21 46117285 46117285 C T rs201215667 KRTAP10-12 Nonsynonymous SNV R57C 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 9.409 107256 chr2 17963171 17963171 C T rs17315702 GEN1 Nonsynonymous SNV R898C 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 22 107257 chrX 12632966 12632966 G A rs139449383 FRMPD4 Nonsynonymous SNV A90T 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign/Likely benign 13.19 107258 chr21 46600355 46600355 A G rs147573765 ADARB1 Synonymous SNV T407T 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 4.863 107259 chr2 98354113 98354113 C T rs55997284 ZAP70 Synonymous SNV D182D 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.442 107260 chr2 37032714 37032714 G A rs367851085 VIT Synonymous SNV A396A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.69 107261 chr3 196054374 196054374 C G rs147419407 TM4SF19 Nonsynonymous SNV A30P 0.003 0.013 0.007 0 4 5 0 2 0 0 0 0 Uncertain significance 24.8 107262 chr22 37964693 37964693 C T rs61747272 CDC42EP1 Nonsynonymous SNV R348W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 107263 chr22 38119788 38119788 C T rs200333366 TRIOBP Nonsynonymous SNV R409W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.53 107264 chr3 197431457 197431457 C T rs61742300 RUBCN Nonsynonymous SNV R80Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 29.7 107265 chr21 47717537 47717537 G A rs200394865 YBEY Nonsynonymous SNV G122R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 107266 chr2 72359531 72359531 G A rs142523471 CYP26B1 Nonsynonymous SNV A380V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 107267 chr2 43802152 43802152 G A rs138256193 THADA Nonsynonymous SNV T351M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 27.7 107268 chr3 101283852 101283852 A G TRMT10C Nonsynonymous SNV E76G 0.003 0 0 0 3 0 0 0 0 0 0 0 20.8 107269 chr3 10146448 10146448 T C rs148056567 FANCD2OS Nonsynonymous SNV Y4C 0.003 0 0 0 4 0 0 0 0 0 0 0 24.7 107270 chr3 111632536 111632536 G C PHLDB2 Nonsynonymous SNV S569T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.17 107271 chr3 111764633 111764633 G A TMPRSS7 Stop gain W41X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 107272 chr2 43798899 43798899 G C rs190709877 THADA Nonsynonymous SNV L671V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.2 107273 chr3 36422147 36422147 G T rs201025890 STAC Synonymous SNV P4P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.34 107274 chr2 86831692 86831694 ATT - rs772475695 RNF103 N444del 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 107275 chr3 37363366 37363366 A T GOLGA4 Nonsynonymous SNV T564S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 107276 chr3 111312965 111312965 A T rs34083626 ZBED2 Synonymous SNV I28I 0.005 0 0 4 6 0 0.01 0 0 0 0 0 0.139 107277 chr22 20100514 20100514 C T rs765705066 TRMT2A Synonymous SNV L522L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 107278 chrX 38169914 38169914 C T rs62638654 RPGR Synonymous SNV K244K 0.004 0.013 0.007 2 5 5 0.005 2 2 2 1 1 Conflicting interpretations of pathogenicity 11.65 107279 chr2 46203568 46203568 C A PRKCE Nonsynonymous SNV A138D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 107280 chr3 38390048 38390048 T G rs116150323 XYLB Nonsynonymous SNV V22G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.03 107281 chr22 21330818 21330818 G A rs140466618 AIFM3 Nonsynonymous SNV G341S 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 14.1 107282 chr2 61275624 61275624 C G PEX13 Nonsynonymous SNV R311G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 107283 chrX 54224856 54224856 G A rs368876768 WNK3 Synonymous SNV P1711P 0 0 0.007 0 0 0 0 2 0 0 1 0 10.09 107284 chr2 64083454 64083454 A G rs768305634 UGP2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 13.49 107285 chr3 39170681 39170681 C T rs757937272 TTC21A Nonsynonymous SNV A631V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.8 107286 chr2 64331868 64331868 A G rs141996653 PELI1 Synonymous SNV T56T 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 1.482 107287 chr2 65541063 65541063 C G rs148120209 SPRED2 Nonsynonymous SNV G274R 0.011 0.031 0.007 8 13 12 0.021 2 0 0 0 0 18.04 107288 chrX 70886414 70886414 T C LOC100129291 0 0 0.007 0 0 0 0 2 0 0 1 0 7.67 107289 chr3 40464520 40464520 G A ENTPD3 Synonymous SNV K337K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.572 107290 chrX 73044356 73044356 G C rs201261360 TSIX, XIST 0 0 0.027 0 0 0 0 8 0 0 4 0 4.636 107291 chr3 119165913 119165913 T C rs377011596 TMEM39A Nonsynonymous SNV N176S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.18 107292 chrX 73071940 73071940 - A rs36033063 XIST 0 0 0.02 0 0 0 0 6 0 0 3 0 107293 chr2 55277209 55277209 C T rs202244693 RTN4 Synonymous SNV A76A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.41 107294 chr3 42166943 42166943 C T rs61742102 TRAK1 Synonymous SNV V41V 0.014 0.013 0.007 4 16 5 0.01 2 0 0 0 0 16.35 107295 chr3 101520537 101520537 C T rs2305990 NXPE3 Synonymous SNV S184S 0.03 0.026 0.027 9 35 10 0.023 8 0 1 0 1 9.112 107296 chr22 24038842 24038842 G C rs775439936 RGL4 Nonsynonymous SNV Q376H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 107297 chr3 101540505 101540505 A G rs775048030 NXPE3 Nonsynonymous SNV I394V 0.004 0 0 3 5 0 0.008 0 0 0 0 0 26 107298 chr2 203424530 203424530 C G BMPR2 Nonsynonymous SNV T993S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 107299 chr3 119256123 119256123 T C rs779393402 CD80 Synonymous SNV T187T 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.008 107300 chr2 71742792 71742792 G A rs750724439 DYSF Nonsynonymous SNV V236M 0.003 0.016 0 3 3 6 0.008 0 0 0 0 0 Uncertain significance 21.5 107301 chr3 109028082 109028082 T C rs764115144 DPPA2 Nonsynonymous SNV N93D 0.004 0 0 4 5 0 0.01 0 0 0 0 0 8.334 107302 chr2 20824544 20824544 C T rs1019190579 HS1BP3 Synonymous SNV P244P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.91 107303 chr3 110863788 110863788 C T rs911482625 NECTIN3 Nonsynonymous SNV A348V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 107304 chr3 111426852 111426852 C T rs143931101 PLCXD2 Synonymous SNV L81L 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 11.64 107305 chr3 111603204 111603204 T G PHLDB2 Nonsynonymous SNV F94V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.47 107306 chr22 51144513 51144513 C G rs61731160 SHANK3 Synonymous SNV P742P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 10.92 107307 chr22 51169491 51169491 C T rs557669600 SHANK3 Synonymous SNV P1710P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 10.53 107308 chr22 29446401 29446401 C T rs189590137 ZNRF3 Synonymous SNV G744G 0.003 0 0.007 7 4 0 0.018 2 0 0 0 0 Benign 2.181 107309 chr22 29533346 29533346 C T rs774948642 KREMEN1 Synonymous SNV C216C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 12.98 107310 chr10 103892888 103892888 G T rs34756593 PPRC1 Synonymous SNV P21P 0.007 0.008 0.014 4 8 3 0.01 4 0 0 0 0 11.49 107311 chr3 124515632 124515632 G C rs150312150 ITGB5 Nonsynonymous SNV S279R 0.011 0.01 0.003 6 13 4 0.015 1 0 0 0 0 24.4 107312 chr3 124635237 124635237 G T MUC13 Nonsynonymous SNV D296E 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 0.001 107313 chr3 114069791 114069791 G A rs200922911 ZBTB20 Synonymous SNV G378G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 8.583 107314 chr3 46593068 46593068 A G rs201529548 LRRC2 Nonsynonymous SNV V5A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 26 107315 chr2 102782690 102782690 T C rs34889382 IL1R1 Nonsynonymous SNV Y58H 0.009 0.003 0.014 3 11 1 0.008 4 0 0 1 0 0.386 107316 chr2 102791994 102791994 G A rs34835752 IL1R1 Nonsynonymous SNV G254R 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 22.9 107317 chr3 12586850 12586850 C G rs371527866 MKRN2OS Synonymous SNV S38S 0.006 0.008 0 0 7 3 0 0 0 0 0 0 13.07 107318 chr2 102955474 102955474 C T rs34210856 IL1RL1 Nonsynonymous SNV A80V 0.009 0 0.014 0 10 0 0 4 0 0 1 0 11.71 107319 chr2 86408450 86408450 G A rs201861204 IMMT Nonsynonymous SNV R31C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 107320 chr2 102957204 102957204 G A rs34225180 IL1RL1 Nonsynonymous SNV A59T 0.009 0 0.014 0 10 0 0 4 0 0 1 0 3.049 107321 chr3 127396126 127396126 C G rs370481388 ABTB1 Synonymous SNV L111L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 2.777 107322 chr2 103281626 103281626 G C SLC9A2 Nonsynonymous SNV G274A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 107323 chr2 9013343 9013343 T C MBOAT2 Nonsynonymous SNV I127V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.942 107324 chr3 128344416 128344416 G A rs199585668 RPN1 Synonymous SNV T452T 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 16.67 107325 chr22 35782786 35782786 C T rs141730669 HMOX1 Nonsynonymous SNV R85C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 107326 chr3 48719858 48719858 C A rs150324090 NCKIPSD Nonsynonymous SNV V137L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.89 107327 chr22 36055507 36055507 G T rs143747983 APOL6 Nonsynonymous SNV R299M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 107328 chr22 36205842 36205842 T C rs144815875 RBFOX2 Synonymous SNV Q79Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.06 107329 chr2 111881584 111881584 C T BCL2L11 Synonymous SNV L88L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.44 107330 chr10 11894195 11894195 G A rs148688412 PROSER2 Nonsynonymous SNV R40H 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Likely benign 26.7 107331 chr3 130188121 130188121 G A rs75328271 COL6A5 Nonsynonymous SNV V2425I 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 Benign 2.197 107332 chr10 119043997 119043997 C T rs138837693 PDZD8 Synonymous SNV T749T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 107333 chr10 120907358 120907358 C T rs12266664 SFXN4 Synonymous SNV T249T 0.009 0.013 0.014 4 11 5 0.01 4 0 0 0 0 Benign 9.267 107334 chr3 130409438 130409438 G A rs552536210 PIK3R4 Synonymous SNV G1053G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.75 107335 chr10 121598079 121598079 G A MCMBP Nonsynonymous SNV T459I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 107336 chr3 123357036 123357036 C T MYLK Nonsynonymous SNV A1439T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 107337 chr2 96795682 96795682 G A rs756339024 ASTL Nonsynonymous SNV T252I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.011 107338 chr3 130463791 130463791 G A PIK3R4 Nonsynonymous SNV S91L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.907 107339 chr2 11758516 11758516 C G rs140938943 GREB1 Nonsynonymous SNV A1172G 0.007 0.013 0.007 8 8 5 0.021 2 0 0 0 1 8.444 107340 chr2 97279225 97279225 T C rs201372384 KANSL3 Synonymous SNV P37P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.57 107341 chr10 123970338 123970338 C T rs150034118 TACC2 Nonsynonymous SNV P211L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 107342 chr2 98430837 98430837 T A rs200161087 TMEM131 Nonsynonymous SNV D436V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.2 107343 chr3 124696725 124696725 C T rs201910585 HEG1 Nonsynonymous SNV A1267T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 107344 chr2 120125869 120125869 G A rs8192504 DBI Nonsynonymous SNV D39N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 29 107345 chr3 52473978 52473978 - GGACAGGGCGGCCATGTCGAGGCC SEMA3G V426_L427insRPRHGRPV 0.001 0 0 0 1 0 0 0 0 0 0 0 107346 chr3 134226007 134226007 T A rs142072867 CEP63 Nonsynonymous SNV I34K 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 31 107347 chr3 52510604 52510604 G A rs142925971 NISCH Nonsynonymous SNV D303N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 107348 chr3 134366307 134366307 A G KY Nonsynonymous SNV W57R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.38 107349 chr2 223423491 223423491 C G rs61742017 SGPP2 Synonymous SNV T230T 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 10.02 107350 chr22 39147253 39147253 C T rs147820532 SUN2 Nonsynonymous SNV R83K 0.004 0.01 0 0 5 4 0 0 0 0 0 0 14.75 107351 chr3 136048832 136048832 A G rs988886785 PCCB Synonymous SNV Q528Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.318 107352 chr10 124459243 124459243 C A rs202218863 C10orf120 Nonsynonymous SNV V22L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.064 107353 chr3 111793164 111793164 C T TMPRSS7 Nonsynonymous SNV T437I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 107354 chr3 101520777 101520777 C G rs201056771 NXPE3 Nonsynonymous SNV F264L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.72 107355 chr3 137892429 137892429 G A rs35147674 DBR1 Synonymous SNV L79L 0.014 0.003 0.01 3 16 1 0.008 3 0 0 0 0 1.332 107356 chr3 52848355 52848355 C T rs567867066 ITIH4 Synonymous SNV T802T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 107357 chr3 139258399 139258399 G T RBP1 Synonymous SNV A54A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.971 107358 chr3 53164370 53164370 G C rs148716754 RFT1 Nonsynonymous SNV S16C 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 107359 chr3 10452485 10452485 C T rs370301558 ATP2B2 Nonsynonymous SNV A72T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 107360 chr10 128822981 128822981 G A rs11595439 DOCK1 Synonymous SNV A495A 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 15.22 107361 chr3 140407370 140407370 C G rs772533551 TRIM42 Nonsynonymous SNV P616A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 107362 chr3 54952536 54952536 C G rs781338601 LRTM1 Nonsynonymous SNV D254H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.57 107363 chr2 133542491 133542491 A G rs751909933 NCKAP5 Synonymous SNV P631P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.099 107364 chr3 148614447 148614447 C T rs61733454 CPA3 Synonymous SNV L403L 0.014 0.026 0.027 6 17 10 0.015 8 0 0 0 0 13.98 107365 chr3 113755488 113755488 A T rs150401939 CCDC191 Nonsynonymous SNV D165E 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 24.5 107366 chr2 135738715 135738715 A G rs56284052 MAP3K19 Nonsynonymous SNV I1086T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 16.11 107367 chr3 148714137 148714137 G C GYG1 Nonsynonymous SNV L64F 0.002 0 0 0 2 0 0 0 0 0 0 0 26 107368 chr3 14940275 14940275 G A rs61757393 FGD5 Synonymous SNV A1032A 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 10.74 107369 chr3 66434689 66434689 T C rs138704774 LRIG1 Synonymous SNV P599P 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 6.255 107370 chr3 151171406 151171406 C T rs114161831 IGSF10 Nonsynonymous SNV E161K 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 33 107371 chr3 130852792 130852792 G A rs138742765 NEK11 Synonymous SNV S65S 0.009 0.008 0.01 0 10 3 0 3 0 0 0 0 12.09 107372 chr3 151085514 151085514 C T rs141664377 MED12L Synonymous SNV D1101D 0.004 0 0 0 5 0 0 0 0 0 0 0 16.56 107373 chr3 112709852 112709852 G C rs147735880 GTPBP8 Synonymous SNV A2A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.695 107374 chr3 151542524 151542524 C A AADAC Nonsynonymous SNV R169S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.66 107375 chr10 134733644 134733644 G A rs149558193 CFAP46 Nonsynonymous SNV A550V 0 0 0.01 0 0 0 0 3 0 0 0 0 24 107376 chr22 44893151 44893151 - GGTCATG RTL6 Frameshift insertion T96Hfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 107377 chr3 132068820 132068820 T C ACP3 Nonsynonymous SNV Y247H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.055 107378 chr2 152326270 152326270 T C rs142222975 RIF1 Synonymous SNV T2303T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.68 107379 chr22 45996298 45996298 A G rs13268 FBLN1 Nonsynonymous SNV H695R 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign 23.6 107380 chr3 154022751 154022751 T C DHX36 Nonsynonymous SNV S327G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 107381 chr3 13367315 13367315 G A rs777859897 NUP210 Nonsynonymous SNV H1542Y 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 8.141 107382 chr3 118948912 118948912 T G B4GALT4 Nonsynonymous SNV K12T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 107383 chr10 135279752 135279752 C T rs7894325 SCART1 0 0 0.051 0 0 0 0 15 0 0 0 0 5.614 107384 chr3 15614707 15614707 C T rs41284033 HACL1 Nonsynonymous SNV A236T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.36 107385 chr3 160156199 160156199 C T rs142551772 TRIM59 Nonsynonymous SNV R258H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.5 107386 chr10 1568838 1568838 A G rs79021834 ADARB2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.721 107387 chr10 1568950 1568950 C T rs61745914 ADARB2-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 8.073 107388 chr2 239038917 239038917 G A rs144338731 ESPNL Nonsynonymous SNV R153H 0.004 0 0.007 0 5 0 0 2 0 0 0 0 11.84 107389 chr3 13612222 13612222 G A rs185394047 FBLN2 Nonsynonymous SNV E123K 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.5 107390 chr10 17171176 17171176 C T rs12259370 CUBN Nonsynonymous SNV G66R 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 34 107391 chr3 98216737 98216737 T C OR5K2 Synonymous SNV S71S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.018 107392 chr3 137843167 137843167 C T rs759650530 A4GNT Nonsynonymous SNV R321K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.543 107393 chr3 167051675 167051675 C T rs779419065 ZBBX Synonymous SNV K209K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 7.89 107394 chr3 99567239 99567239 C T rs749740482 FILIP1L Nonsynonymous SNV G854D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.72 107395 chr3 121575986 121575986 T C rs150707706 EAF2 Nonsynonymous SNV I26T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24 107396 chr3 168840462 168840462 T C rs34896995 MECOM Nonsynonymous SNV Q107R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.4 107397 chr22 50315382 50315382 C G rs74510325 CRELD2 Nonsynonymous SNV R189G 0.011 0.005 0.02 4 13 2 0.01 6 0 0 0 0 24.9 107398 chr2 163250987 163250987 G A rs17783977 KCNH7 Synonymous SNV L874L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.96 107399 chr10 25887038 25887038 C G rs143609365 GPR158 Nonsynonymous SNV T828R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.74 107400 chr2 241895328 241895328 G C rs530790574 CROCC2 Nonsynonymous SNV R961T 0.003 0 0 0 4 0 0 0 0 0 0 0 2.207 107401 chr3 125855670 125855670 C G rs376644159 ALDH1L1 Synonymous SNV G326G 0.006 0 0 0 7 0 0 0 0 0 0 0 8.204 107402 chr3 142717294 142717294 C T rs183775064 PAQR9-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 4.505 107403 chr3 143567036 143567036 A T rs140007028 SLC9A9 Nonsynonymous SNV N43K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.54 107404 chr3 173997099 173997099 T C rs61750377 NLGN1 Synonymous SNV I436I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.696 107405 chr3 174814909 174814909 G A rs150099163 NAALADL2 Nonsynonymous SNV V125I 0.003 0.003 0.017 6 3 1 0.015 5 0 0 1 0 0.013 107406 chr10 27534994 27534994 C A rs1144509 LRRC37A6P 0 0 0.024 0 0 0 0 7 0 0 2 0 4.824 107407 chr3 124716640 124716640 G A rs200670096 HEG1 Nonsynonymous SNV P1182L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 107408 chr10 28225715 28225715 C A ARMC4 Nonsynonymous SNV R256L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 107409 chr3 12660145 12660145 T A RAF1 Nonsynonymous SNV S26C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 107410 chr4 107246188 107246188 C A AIMP1 Nonsynonymous SNV L8M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 107411 chr2 170344577 170344577 G C BBS5 Nonsynonymous SNV L113F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 107412 chr2 170401230 170401230 C T FASTKD1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 107413 chr3 128369622 128369622 A G rs532290753 RPN1 Synonymous SNV L8L 0.004 0.01 0.01 0 5 4 0 3 0 0 0 0 0.499 107414 chr3 151165900 151165900 T C rs143231887 IGSF10 Synonymous SNV K623K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.003 107415 chr10 4033403 4033403 C G rs188866477 MIR6078 0 0 0.003 0 0 0 0 1 0 0 0 0 0.296 107416 chr4 119161704 119161704 C A NDST3 Nonsynonymous SNV A715E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 107417 chr2 17884520 17884520 T A rs778169362 SMC6 Synonymous SNV I682I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 107418 chr3 186335056 186335056 G A rs140827890 AHSG Nonsynonymous SNV A165T 0.003 0.01 0.027 4 4 4 0.01 8 0 0 0 0 25 107419 chr3 129159200 129159200 T C IFT122 Synonymous SNV D9D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.958 107420 chr2 179501436 179501436 G A rs765821223 TTN Nonsynonymous SNV P4608L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22 107421 chr10 46999107 46999107 G A rs564932850 GPRIN2 Nonsynonymous SNV R76Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 107422 chr2 179591954 179591954 T G TTN Nonsynonymous SNV K5469T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 107423 chr2 179605332 179605332 C T TTN Nonsynonymous SNV E3847K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 107424 chr4 123814164 123814164 G A rs45606640 NUDT6 Nonsynonymous SNV T257I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.9 107425 chr3 130284290 130284290 G A rs375204239 COL6A6 Nonsynonymous SNV D372N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.287 107426 chr2 28975017 28975017 C T rs141050112 PPP1CB Synonymous SNV D9D 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 Likely benign 14.89 107427 chr2 29124976 29124976 C T rs147302501 WDR43 Nonsynonymous SNV H117Y 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 25.7 107428 chr3 172499996 172499996 G A rs146593737 ECT2 Nonsynonymous SNV S471N 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 26.2 107429 chr2 29380087 29380087 G T rs75318351 CLIP4 Nonsynonymous SNV V425F 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 3.281 107430 chr3 134670812 134670812 C T rs544824231 EPHB1 Synonymous SNV N241N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 107431 chr4 130027765 130027765 G A rs149388613 C4orf33 Nonsynonymous SNV D69N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 107432 chr3 197427515 197427515 C T rs116791711 RUBCN Synonymous SNV S350S 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 11.97 107433 chr3 197483405 197483405 G A rs760891669 FYTTD1 Nonsynonymous SNV R71Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.1 107434 chr10 52391022 52391022 G A rs139989144 SGMS1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.229 107435 chr2 33623603 33623603 C G LTBP1 Nonsynonymous SNV D1351E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.92 107436 chr3 14189426 14189426 A G rs201597537 XPC Synonymous SNV I639I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.86 107437 chr2 186669325 186669325 A G rs116029352 FSIP2 Nonsynonymous SNV I5098V 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 0.001 107438 chr10 5931207 5931207 C A ANKRD16 Synonymous SNV G37G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 107439 chr10 6010759 6010759 C T rs559277033 IL15RA Nonsynonymous SNV R109Q 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 2.699 107440 chr10 63851181 63851181 G A rs374936299 ARID5B Synonymous SNV S410S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.406 107441 chr3 149193692 149193692 G A TM4SF4 Nonsynonymous SNV R86Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 107442 chr3 197427918 197427918 G A rs374542098 RUBCN Nonsynonymous SNV P216L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.122 107443 chr3 33420257 33420257 T G rs376763047 FBXL2 Nonsynonymous SNV I325M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.353 107444 chr3 147128004 147128004 G T rs200602434 ZIC1 Synonymous SNV L35L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.371 107445 chr3 150127948 150127948 G A rs36122343 TSC22D2 Nonsynonymous SNV V271I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.23 107446 chr10 69682728 69682728 A T rs149844890 HERC4 Nonsynonymous SNV I782N 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 107447 chr3 186338565 186338565 G A rs201849460 AHSG Nonsynonymous SNV R289H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Pathogenic 25.5 107448 chr3 37370566 37370566 A T rs11924014 GOLGA4 Nonsynonymous SNV R2058S 0.022 0.018 0.01 8 26 7 0.021 3 0 0 0 0 Benign 23.3 107449 chr2 43927245 43927245 C T rs149016340 PLEKHH2 Nonsynonymous SNV S383L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.1 107450 chr3 151045976 151045976 T C rs61736003 P2RY13 Nonsynonymous SNV R290G 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.395 107451 chr3 37376625 37376625 C G GOLGA4 Nonsynonymous SNV L2092V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 15.87 107452 chr3 151085951 151085951 G C rs35291743 MED12L Synonymous SNV A1119A 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 8.562 107453 chr3 151155044 151155044 A G rs112300737 IGSF10 Synonymous SNV L462L 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 0.072 107454 chr3 151155095 151155095 G A rs111254790 IGSF10 Synonymous SNV G445G 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 5.547 107455 chr3 151164057 151164057 T C rs144316007 IGSF10 Nonsynonymous SNV T1238A 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 0.324 107456 chr3 151171361 151171361 A G rs35723440 IGSF10 Synonymous SNV L176L 0.006 0.005 0.017 0 7 2 0 5 0 0 0 0 0.288 107457 chr3 38178494 38178494 C T rs200726339 ACAA1 Synonymous SNV L11L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 10.91 107458 chr3 186953932 186953932 C A rs72549154 MASP1 Nonsynonymous SNV R576M 0.017 0.005 0.01 1 20 2 0.003 3 0 0 0 0 13.25 107459 chr3 151475137 151475137 T C AADACL2 Synonymous SNV L321L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 107460 chr3 152058544 152058544 G A rs761801951 TMEM14EP 0.002 0 0 0 2 0 0 0 0 0 0 0 3.977 107461 chr3 38350520 38350520 T C rs144507369 SLC22A14 Nonsynonymous SNV V284A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.4 107462 chr3 15259048 15259048 A G rs140901333 CAPN7 Nonsynonymous SNV I110V 0.006 0.008 0.007 3 7 3 0.008 2 0 0 0 0 11.16 107463 chr2 201943624 201943624 C T rs144513268 NDUFB3 Nonsynonymous SNV H7Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 107464 chr3 38607934 38607934 T C rs761274563 SCN5A Nonsynonymous SNV N1215S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 14.91 107465 chr3 153909150 153909150 G C ARHGEF26 Nonsynonymous SNV M571I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 25.1 107466 chr2 135756499 135756499 G A rs151112282 MAP3K19 Nonsynonymous SNV T128M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.002 107467 chr2 202598100 202598100 T A rs202219507 ALS2 Nonsynonymous SNV T827S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.278 107468 chr2 54871495 54871495 G A rs752847416 SPTBN1 Synonymous SNV T1334T 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 13.98 107469 chr2 55253483 55253483 T G rs201574587 RTN4 Nonsynonymous SNV E378D 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 23.8 107470 chr10 73485272 73485272 G A rs80028391 CDH23 Nonsynonymous SNV V1192I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.2 107471 chr3 158543843 158543843 G A rs200660222 MFSD1 Nonsynonymous SNV R404H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 107472 chr10 75035447 75035447 C T rs895300099 DNAJC9-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.724 107473 chr3 41280807 41280807 C T rs4135386 CTNNB1 Synonymous SNV L774L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 8.357 107474 chr10 75289267 75289267 G A rs76839096 USP54 Nonsynonymous SNV T744I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.482 107475 chr10 75407176 75407176 G A rs149659353 SYNPO2L Nonsynonymous SNV S521L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.36 107476 chr2 61149107 61149107 A G rs140572082 REL Nonsynonymous SNV T401A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 0.029 107477 chr2 61412645 61412645 C T rs532038192 AHSA2P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.35 107478 chr3 169511557 169511557 C T rs139023558 LRRC34 Nonsynonymous SNV D389N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 107479 chr3 169514077 169514077 G A rs143141600 LRRC34 Nonsynonymous SNV S298F 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 28.8 107480 chr2 63058253 63058253 G T rs200124260 EHBP1 Nonsynonymous SNV E198D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.46 107481 chr2 64126640 64126640 T C VPS54 Nonsynonymous SNV I889V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 16.91 107482 chr2 152426744 152426744 G A NEB Nonsynonymous SNV P4060S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 107483 chr2 65299420 65299420 T C rs35501092 CEP68 Nonsynonymous SNV L397P 0.014 0.021 0.003 4 17 8 0.01 1 0 0 0 0 9.633 107484 chr10 79397228 79397239 GAGGAGGAAGAG - rs754606765 KCNMA1 S57_S60del 0.003 0 0.007 0 3 0 0 2 0 0 0 0 107485 chr2 155158098 155158098 C T rs148941547 GALNT13 Synonymous SNV S384S 0.005 0 0 0 6 0 0 0 0 0 0 0 16.41 107486 chr3 172766777 172766777 C T rs55724801 SPATA16 Synonymous SNV R240R 0.005 0.021 0.017 4 6 8 0.01 5 0 0 0 0 Benign 14.19 107487 chr2 208986658 208986658 G C rs75156162 CRYGD Nonsynonymous SNV H88Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.9 107488 chr4 184605298 184605308 GAGATAATCAT - TRAPPC11 E430Nfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 107489 chr4 185623280 185623283 CTTT - rs749721028 CENPU E295Afs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 107490 chr2 70064709 70064709 T C rs35619289 GMCL1 Synonymous SNV I97I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.16 107491 chr10 85984575 85984575 G A rs763874055 LRIT2 Nonsynonymous SNV R136C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 107492 chr3 183225949 183225949 C G rs770936523 KLHL6 Nonsynonymous SNV W269C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 107493 chr2 71300673 71300673 G A rs144974375 NAGK Synonymous SNV A125A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.68 107494 chr3 28476712 28476712 A G rs141487206 ZCWPW2 Synonymous SNV R148R 0.01 0.018 0 2 12 7 0.005 0 0 0 0 0 8.654 107495 chr2 16082393 16082393 G A rs41264199 MYCN Synonymous SNV E69E 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 5.764 107496 chr3 184072049 184072049 C T rs753100980 CLCN2 Nonsynonymous SNV V477M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.7 107497 chr4 187538942 187538942 T A rs1280098 FAT1 Nonsynonymous SNV Q2933L 0.03 0.016 0.017 12 35 6 0.031 5 0 0 0 0 10.63 107498 chr10 91177500 91177500 A G rs996304757 IFIT5 Nonsynonymous SNV I182V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.395 107499 chr2 165947079 165947079 C A rs41265137 SCN3A Nonsynonymous SNV G1813C 0.013 0.013 0.003 4 15 5 0.01 1 0 0 0 0 Benign 32 107500 chr4 2172456 2172456 T C rs34574483 POLN Nonsynonymous SNV S502G 0.02 0.029 0.017 9 23 11 0.023 5 1 0 0 0 0.018 107501 chr2 167055853 167055853 C T SCN9A Nonsynonymous SNV A1766T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 107502 chr3 186295536 186295536 A G DNAJB11 Nonsynonymous SNV I135V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.657 107503 chr3 46021299 46021299 G A rs147216026 FYCO1 Synonymous SNV T62T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.504 107504 chr3 37100293 37100293 T C LRRFIP2 Nonsynonymous SNV I299V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 107505 chr3 38289209 38289209 A G rs748047230 OXSR1 Synonymous SNV L436L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.352 107506 chr2 167266447 167266447 T C rs62622799 SCN7A 0.008 0 0.003 0 9 0 0 1 0 0 0 0 23.3 107507 chr3 186917477 186917477 G A rs762825309 RTP1 Synonymous SNV T137T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.499 107508 chr3 38591960 38591960 A C rs199473639 SCN5A Nonsynonymous SNV I1950S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.14 107509 chr4 289272 289272 C T rs112132883 ZNF732 Nonsynonymous SNV E61K 0.032 0.023 0.01 8 38 9 0.021 3 0 0 0 0 22.9 107510 chr3 47870564 47870564 T C rs750759641 DHX30 Synonymous SNV Y102Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.025 107511 chr3 47045708 47045708 C T rs201015564 NBEAL2 Nonsynonymous SNV T1974M 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Uncertain significance 6.409 107512 chr2 170865406 170865406 G A rs143438707 UBR3 Synonymous SNV P1441P 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign 13.12 107513 chr4 3495111 3495111 - CCTGGC rs762148551 DOK7 P159_A160insGP 0.001 0 0 0 1 0 0 0 0 0 0 0 107514 chr3 38927621 38927621 G C SCN11A Nonsynonymous SNV R982G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.15 107515 chr3 47453659 47453659 G T rs147959396 PTPN23 Synonymous SNV P1257P 0.007 0.003 0.014 0 8 1 0 4 0 0 0 0 Benign 6.96 107516 chr2 171573376 171573376 C T SP5 Nonsynonymous SNV P220L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 22 107517 chr2 171641303 171641303 C T rs551957588 ERICH2 Nonsynonymous SNV P59L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.8 107518 chr2 9633092 9633092 C T rs61754177 ADAM17 Nonsynonymous SNV V673I 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 Benign 34 107519 chr3 194081558 194081558 G A rs141605466 LRRC15 Nonsynonymous SNV P72L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.25 107520 chr2 97427135 97427135 G A rs34147094 CNNM4 Synonymous SNV V133V 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Benign/Likely benign 6.405 107521 chr3 194790566 194790566 G A rs200992381 XXYLT1 Nonsynonymous SNV R208W 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 35 107522 chr2 179433569 179433569 C T TTN Nonsynonymous SNV G16699R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 21.4 107523 chr2 179434137 179434137 A G rs55696153 TTN Synonymous SNV Y16509Y 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.125 107524 chr3 49898695 49898695 C T rs200717131 CAMKV Synonymous SNV S160S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.954 107525 chr2 179528759 179528759 T C rs200513156 TTN Nonsynonymous SNV E12116G 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign/Likely benign 7.397 107526 chr3 52677272 52677272 C T PBRM1 Synonymous SNV K329K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.67 107527 chr3 101090896 101090896 T G SENP7 Nonsynonymous SNV K87T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.021 107528 chr2 179623801 179623801 C T TTN Nonsynonymous SNV E3359K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.6 107529 chr2 220505656 220505656 G A rs150952379 SLC4A3 Nonsynonymous SNV R1225Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 35 107530 chr3 101570944 101570944 G C rs149007883 NFKBIZ Nonsynonymous SNV G102A 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 11.35 107531 chr3 52255619 52255619 G A rs199785727 TLR9 Nonsynonymous SNV R905C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26.8 107532 chr3 45266681 45266681 - CTGCGGTGGTCC TMEM158 A279_A280insGTTA 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 107533 chr3 53853009 53853009 T C rs34974961 CHDH Nonsynonymous SNV N441S 0.009 0.01 0.017 7 10 4 0.018 5 0 0 0 0 21.3 107534 chr3 20189473 20189473 C T rs886469863 KAT2B Nonsynonymous SNV P713L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 107535 chr3 20216443 20216443 T C rs141448850 SGO1 Nonsynonymous SNV S194G 0.003 0.01 0 0 4 4 0 0 0 0 0 0 0.375 107536 chr3 3116540 3116540 A G rs772102514 IL5RA Nonsynonymous SNV W368R 0.001 0 0 0 1 0 0 0 0 0 0 0 27 107537 chr4 56883987 56883987 C G rs35143702 CEP135 Synonymous SNV T992T 0.02 0.01 0.007 4 24 4 0.01 2 0 0 0 0 Likely benign 11.75 107538 chr4 56885581 56885581 T C rs61753870 CEP135 Synonymous SNV N1025N 0.02 0.01 0.017 4 24 4 0.01 5 0 0 1 0 Likely benign 7.024 107539 chr3 3139841 3139841 C T rs767486437 IL5RA Synonymous SNV T167T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 107540 chr3 55922477 55922477 G A rs138285241 ERC2 Nonsynonymous SNV A833V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.2 107541 chr2 231235642 231235642 G A rs370677949 SP140L Synonymous SNV P156P 0.004 0 0 0 5 0 0 0 0 0 0 0 4.838 107542 chr3 48789026 48789026 C T rs374377380 PRKAR2A Nonsynonymous SNV G381R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 107543 chr3 64633633 64633633 C G rs772795336 ADAMTS9 Nonsynonymous SNV E537Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 107544 chr3 57310700 57310700 G A ASB14 Nonsynonymous SNV R263W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 107545 chr3 49753442 49753442 A T RNF123 Nonsynonymous SNV Q1113L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 107546 chr3 37089130 37089130 A G rs35001569 MLH1 Nonsynonymous SNV K260E 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign/Likely benign 27.8 107547 chr3 37089131 37089131 A C rs63750449 MLH1 Nonsynonymous SNV K260T 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign 28 107548 chr3 71743034 71743034 G A rs866131789 EIF4E3 Nonsynonymous SNV A155V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.96 107549 chr3 50415739 50415739 G A rs760989430 CACNA2D2 Synonymous SNV I455I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 13.28 107550 chr3 62253152 62253152 T C rs61754216 PTPRG Synonymous SNV N908N 0.016 0.008 0.01 4 19 3 0.01 3 0 0 0 0 7.212 107551 chr3 42576598 42576598 T C rs897928973 VIPR1 0.005 0 0 1 6 0 0.003 0 0 0 0 0 24.3 107552 chr3 38674699 38674699 G A rs6791924 SCN5A Nonsynonymous SNV R34C 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign/Likely benign 26.9 107553 chr3 39225442 39225442 T C rs138653994 XIRP1 Nonsynonymous SNV Q515R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 107554 chr3 39225752 39225752 C G rs61736128 XIRP1 Nonsynonymous SNV V412L 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 3.929 107555 chr3 39226383 39226383 G A rs146387467 XIRP1 Synonymous SNV P201P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.055 107556 chr3 39226436 39226436 C T rs58805228 XIRP1 Nonsynonymous SNV V184M 0.006 0.005 0.01 5 7 2 0.013 3 0 0 0 0 16.24 107557 chr3 39307884 39307884 G A rs202143296 CX3CR1 Synonymous SNV S39S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 7.507 107558 chr2 238280543 238280543 C T rs112181324 COL6A3 Nonsynonymous SNV A766T 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.25 107559 chr4 72631150 72631150 G T GC Nonsynonymous SNV Q158K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.005 107560 chr11 110030033 110030033 A G ZC3H12C Synonymous SNV P322P 0 0 0.007 0 0 0 0 2 0 0 0 0 2.553 107561 chr11 110451645 110451645 C T rs45515099 ARHGAP20 Synonymous SNV R652R 0.006 0 0.01 0 7 0 0 3 0 0 0 0 8.18 107562 chr3 56600709 56600709 C T rs368224350 CCDC66 Nonsynonymous SNV S178L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.746 107563 chr3 98507295 98507295 T C rs143855020 ST3GAL6 Synonymous SNV F104F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.883 107564 chr3 57143610 57143610 T C rs771843212 IL17RD Nonsynonymous SNV I169V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.58 107565 chr3 57487126 57487126 A G rs763234701 DNAH12 Synonymous SNV N419N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.237 107566 chr3 122420030 122420030 G A rs752297915 PARP14 Nonsynonymous SNV V877M 0.004 0 0 0 5 0 0 0 0 0 0 0 26 107567 chr4 76507057 76507057 C T CDKL2 Nonsynonymous SNV E490K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 107568 chr3 46399174 46399174 G T rs3918367 CCR2 Synonymous SNV V52V 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 Benign 6.164 107569 chr3 63594826 63594826 C T rs754644439 SYNPR Nonsynonymous SNV S125L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 107570 chr11 113146033 113146033 C T rs17174409 NCAM1 Nonsynonymous SNV T824M 0.003 0.003 0.017 2 3 1 0.005 5 0 0 0 0 18.61 107571 chr3 9986104 9986104 G A rs114286445 CRELD1 Synonymous SNV Q340Q 0.003 0.005 0.003 3 4 2 0.008 1 1 0 0 0 Benign 22.5 107572 chr3 46008789 46008789 C T rs373400491 FYCO1 Synonymous SNV A679A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11.87 107573 chr2 207171311 207171311 C T rs192597586 ZDBF2 Nonsynonymous SNV R687C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 22.3 107574 chr4 77661500 77661500 C G SHROOM3 Nonsynonymous SNV P725R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 107575 chr3 9959305 9959305 G A rs778955786 IL17RC Synonymous SNV E102E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.132 107576 chr11 113650757 113650757 C T rs182753809 CLDN25 Synonymous SNV A80A 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 12.35 107577 chr3 46757164 46757164 C G rs993433708 PRSS50 Nonsynonymous SNV D111H 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 107578 chr4 100463237 100463237 G A rs74444838 C4orf17 Nonsynonymous SNV A351T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.905 107579 chr3 73673836 73673836 C T rs747102990 PDZRN3 Synonymous SNV V47V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.1 107580 chr3 45807231 45807231 G A rs143712804 SLC6A20 Synonymous SNV A330A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.357 107581 chr4 79360063 79360063 G A rs150916370 FRAS1 Nonsynonymous SNV A1792T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.875 107582 chr3 125855645 125855645 C T rs9282692 ALDH1L1 Nonsynonymous SNV A335T 0.005 0 0 0 6 0 0 0 0 0 0 0 16.2 107583 chr3 126137548 126137550 AGA - rs763400870 CFAP100 K195del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 107584 chr3 47957741 47957741 T C rs138046751 MAP4 Nonsynonymous SNV T526A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 11.74 107585 chr4 79792082 79792082 - CAG rs3063772 BMP2K Q486_H487insQ 0.003 0.003 0 0 4 1 0 0 0 0 0 0 107586 chr4 1018366 1018366 G A rs374222149 FGFRL1 Nonsynonymous SNV R329H 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.7 107587 chr3 97661162 97661162 G A rs766020804 CRYBG3 Nonsynonymous SNV R2900Q 0.004 0 0 3 5 0 0.008 0 0 0 0 0 26 107588 chr3 128060156 128060156 C T rs201547620 EEFSEC Synonymous SNV C289C 0.004 0 0 0 5 0 0 0 0 0 0 0 14.03 107589 chr11 118771891 118771891 C T rs775683494 BCL9L Nonsynonymous SNV G854E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 107590 chr2 24521652 24521652 C T rs151243708 ITSN2 Nonsynonymous SNV R459H 0.003 0.005 0 2 4 2 0.005 0 0 1 0 0 27.1 107591 chr3 49160137 49160142 GGTTGA - LAMB2 L1523_N1524del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 107592 chr2 25037320 25037320 T C rs201887673 CENPO Synonymous SNV L92L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.076 107593 chr2 215278935 215278935 T A rs115907662 VWC2L Nonsynonymous SNV H6Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 107594 chr4 106924857 106924872 TCTAATTTTACAAGAC - LOC101929577 0.003 0 0 0 3 0 0 0 0 0 0 0 107595 chr3 9870798 9870798 G A rs373395777 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV V568M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 107596 chr4 110884429 110884429 G A EGF Synonymous SNV L429L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.249 107597 chr4 110884430 110884430 G A EGF Nonsynonymous SNV D430N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 107598 chr4 110749236 110749236 C T rs79956056 RRH Nonsynonymous SNV S18L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.2 107599 chr11 121340827 121340827 A G rs761691535 SORL1 Nonsynonymous SNV S133G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 107600 chr4 110791347 110791347 C T rs116570736 LRIT3 Nonsynonymous SNV T481M 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 4.601 107601 chr4 8469776 8469776 C T rs149894820 TRMT44 Nonsynonymous SNV R303C 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 22.5 107602 chr4 85419329 85419329 C T rs779882001 NKX6-1 Nonsynonymous SNV S18N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.2 107603 chr11 122735402 122735402 C A rs757766998 CRTAM Synonymous SNV T65T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 11.32 107604 chr4 111441457 111441457 C T ENPEP Synonymous SNV N554N 0.003 0 0 0 4 0 0 0 0 0 0 0 3.492 107605 chr11 123306172 123306172 T C rs17671708 GRAMD1B Synonymous SNV S135S 0 0 0.109 0 0 0 0 32 0 0 1 0 0.422 107606 chr3 50129594 50129594 C T rs369019054 RBM5 Nonsynonymous SNV R46W 0.004 0 0 0 5 0 0 0 0 0 0 0 34 107607 chr3 52023042 52023042 G A rs121912701 ABHD14A-ACY1, ACY1 Nonsynonymous SNV R321H 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 107608 chr2 27886683 27886683 G T rs374228346 SLC4A1AP Nonsynonymous SNV D22Y 0.003 0 0 3 3 0 0.008 0 0 0 0 0 13.86 107609 chr3 51971298 51971298 G A rs145537768 RRP9 Nonsynonymous SNV R143W 0.006 0 0 0 7 0 0 0 0 0 0 0 32 107610 chr3 5229640 5229640 C T rs777814846 EDEM1 Synonymous SNV D50D 0.003 0.01 0 7 4 4 0.018 0 0 0 0 0 14.75 107611 chr4 102946662 102946662 A G rs114028806 BANK1 Synonymous SNV L397L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.061 107612 chr4 121957461 121957461 T C rs747517978 NDNF Synonymous SNV V555V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.108 107613 chr4 119256803 119256803 T C rs140470579 PRSS12 Synonymous SNV G215G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 3.76 107614 chr2 219341675 219341675 A G rs144473565 USP37 Nonsynonymous SNV L644S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.861 107615 chr3 52406252 52406252 A G rs112505934 DNAH1 Nonsynonymous SNV I2226V 0.01 0.008 0 4 12 3 0.01 0 0 0 0 0 Likely benign 1.077 107616 chr4 120192864 120192864 C T rs147140509 USP53 Nonsynonymous SNV P566S 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Likely benign 0.368 107617 chr3 52410004 52410004 G A rs201299120 DNAH1 Nonsynonymous SNV R2398H 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Likely benign 23.9 107618 chr3 52022837 52022837 C T rs121912698 ABHD14A-ACY1, ACY1 Nonsynonymous SNV R281C 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 107619 chr3 52726939 52726939 G A rs771244549 GNL3 Synonymous SNV P307P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.52 107620 chr3 1339647 1339647 G C rs202144505 CNTN6 Nonsynonymous SNV V173L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 107621 chr2 220098995 220098995 G C rs368810674 ANKZF1 Nonsynonymous SNV E187Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.945 107622 chr2 220146659 220146659 A G rs369661561 DNAJB2 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 23.7 107623 chr3 53218986 53218986 C T rs782223934 PRKCD Nonsynonymous SNV T314I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 8.398 107624 chr2 220417356 220417356 G T rs199594182 OBSL1 Nonsynonymous SNV T1737K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 107625 chr11 125769731 125769731 A G rs138284572 HYLS1 Synonymous SNV L156L 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 Benign 6.315 107626 chr3 52858191 52858191 G A rs199769677 ITIH4-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.96 107627 chr4 129857935 129857935 G A rs116133992 SCLT1 Synonymous SNV D568D 0.017 0.013 0.024 4 20 5 0.01 7 0 1 0 0 6.664 107628 chr2 37439131 37439131 A C rs754257607 CEBPZ Nonsynonymous SNV D885E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11.42 107629 chr11 126162452 126162452 C G TIRAP Nonsynonymous SNV P50A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 107630 chr4 134072381 134072381 C G PCDH10 Synonymous SNV T362T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.39 107631 chr2 38302149 38302149 C T CYP1B1 Nonsynonymous SNV G128D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 107632 chr3 56667691 56667691 T C rs369276871 TASOR Nonsynonymous SNV Y606C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.3 107633 chr5 107717167 107717167 G A FBXL17 Nonsynonymous SNV P76S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 107634 chr11 129772247 129772247 G A rs748892885 PRDM10 Synonymous SNV N1011N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 107635 chr3 56655621 56655621 - AGAG rs570037412 CCDC66 Frameshift insertion S910Rfs*18 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 107636 chr4 147824877 147824877 G A TTC29 Synonymous SNV S135S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.679 107637 chr3 57817118 57817118 T G SLMAP Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.317 107638 chr3 149470169 149470169 G A rs777839249 COMMD2 Synonymous SNV S21S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.07 107639 chr4 144620590 144620590 G A rs200334634 FREM3 Synonymous SNV G413G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.66 107640 chr11 134072737 134072737 C T rs772382160 NCAPD3 Nonsynonymous SNV S530N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.636 107641 chr3 58135681 58135681 C G FLNB Nonsynonymous SNV P2042A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 107642 chr4 153250860 153250860 G A rs144306993 FBXW7 Synonymous SNV D282D 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 3.735 107643 chr4 146031552 146031552 G A ABCE1 Nonsynonymous SNV R190Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.9 107644 chr4 153691460 153691460 T C TIGD4 Nonsynonymous SNV I233V 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 8.844 107645 chr4 147177648 147177648 C T rs775350257 SLC10A7 Nonsynonymous SNV V327I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.1 107646 chr3 64617147 64617147 G A rs769078401 ADAMTS9 Synonymous SNV D763D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 107647 chr11 14487853 14487853 A G rs775766548 COPB1 Synonymous SNV N755N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.942 107648 chr4 154544198 154544198 G A rs765248723 TMEM131L Synonymous SNV K1336K 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 8.28 107649 chr2 47643457 47643457 G T rs4987188 MSH2 Nonsynonymous SNV G322V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.1 107650 chr3 69058823 69058823 T C EOGT Nonsynonymous SNV T59A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.63 107651 chr3 154146580 154146580 G T rs571778012 GPR149 Nonsynonymous SNV F275L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.989 107652 chr3 154801978 154801978 A G rs61762319 MME Nonsynonymous SNV M8V 0.021 0.008 0.01 3 25 3 0.008 3 0 0 0 0 22 107653 chr2 232143131 232143131 T C rs1014371892 ARMC9 Nonsynonymous SNV L471P 0.001 0 0 0 1 0 0 0 0 0 0 0 29 107654 chr11 17568991 17568991 G T OTOG Nonsynonymous SNV E24D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 107655 chr3 16336506 16336506 T G rs769522200 OXNAD1 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 107656 chr3 97595199 97595199 G C rs184723985 CRYBG3 Nonsynonymous SNV D1721H 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 7.289 107657 chr11 17742930 17742930 C T MYOD1 Nonsynonymous SNV P280S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 107658 chr5 122950072 122950072 C T rs143856483 CSNK1G3 Synonymous SNV T297T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.27 107659 chr2 55573336 55573336 A G rs776991429 CCDC88A Nonsynonymous SNV I339T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 107660 chr5 125939715 125939715 A G rs62617159 PHAX Nonsynonymous SNV K184E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.55 107661 chr2 234429688 234429688 G A rs73121136 USP40 Synonymous SNV C757C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 107662 chr3 98073065 98073065 A T rs140109788 OR5K4 Nonsynonymous SNV Y123F 0.015 0.01 0 3 18 4 0.008 0 0 0 0 0 22.6 107663 chr3 171452701 171452701 C T rs148972595 PLD1 Nonsynonymous SNV R165H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Likely benign 22.8 107664 chr2 61761029 61761029 G A XPO1 Nonsynonymous SNV P2S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 107665 chr4 159529196 159529196 G C RXFP1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.5 107666 chr3 9985136 9985136 C T rs28942091 CRELD1 Nonsynonymous SNV R329C 0.006 0.01 0.01 0 7 4 0 3 0 0 0 0 Likely benign 23.5 107667 chr2 67630380 67630380 A T rs757947719 ETAA1 Nonsynonymous SNV E189V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.6 107668 chr2 234749269 234749269 G A rs3771334 HJURP Synonymous SNV P634P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.989 107669 chr4 152559873 152559873 A T rs185879278 FAM160A1 Nonsynonymous SNV L397F 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 26.2 107670 chr2 234758503 234758503 G A rs145421945 HJURP Synonymous SNV D81D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.056 107671 chr11 212728 212728 C T RIC8A Synonymous SNV A393A 0 0 0.007 0 0 0 0 2 0 0 0 0 15.08 107672 chr4 100571282 100571282 C T rs747700606 C4orf54 Synonymous SNV P1508P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.481 107673 chr11 2194357 2194357 G A rs145735836 MIR4686 0 0 0.014 0 0 0 0 4 0 0 0 0 0.117 107674 chr5 137219264 137219264 G T rs142828368 MYOT Synonymous SNV V152V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.45 107675 chr11 236152 236152 - T SIRT3 Frameshift insertion P60Afs*37 0 0 0.003 0 0 0 0 1 0 0 0 0 107676 chr4 104030085 104030085 C T rs141321114 CENPE Nonsynonymous SNV R2508Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Uncertain significance 7.727 107677 chr4 104032107 104032107 G A rs148582447 CENPE Synonymous SNV S2413S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign/Likely benign 11.31 107678 chr4 104070041 104070041 G A rs79431579 CENPE Nonsynonymous SNV T1243I 0.009 0.016 0.003 4 10 6 0.01 1 0 0 0 0 Benign 0.373 107679 chr4 104080217 104080217 A C rs75568479 CENPE Nonsynonymous SNV S826A 0.009 0.016 0.003 5 10 6 0.013 1 0 0 0 0 Benign 14.03 107680 chr2 238277707 238277707 T C rs138049094 COL6A3 Nonsynonymous SNV N860D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.067 107681 chr4 18023309 18023309 - GCGGCG rs751821670 LCORL A22_Q23insAA 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 107682 chr4 183651357 183651357 G T rs200117470 TENM3 Nonsynonymous SNV A864S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 107683 chr4 174219273 174219273 T A rs147519873 GALNT7 Nonsynonymous SNV C325S 0.014 0.01 0.007 3 17 4 0.008 2 0 0 0 0 13.49 107684 chr11 2466704 2466704 C T KCNQ1 Nonsynonymous SNV H126Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 107685 chr5 138714949 138714949 G C SLC23A1 Stop gain Y340X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 107686 chr4 185038922 185038922 T C ENPP6 Nonsynonymous SNV K222R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.286 107687 chr2 239148309 239148309 C T HES6 Nonsynonymous SNV G54D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 107688 chr2 239234492 239234492 G A rs771514528 TRAF3IP1 Nonsynonymous SNV V79M 0.003 0 0 0 3 0 0 0 0 0 0 0 32 107689 chr4 113352647 113352647 C T rs144596104 ALPK1 Synonymous SNV L570L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.617 107690 chr4 187130294 187130294 G A rs1002978806 CYP4V2 Nonsynonymous SNV A425T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Uncertain significance 19.17 107691 chr11 33094059 33094059 C T rs118146715 TCP11L1 Nonsynonymous SNV S456L 0.009 0.013 0.014 3 10 5 0.008 4 0 0 0 0 23.4 107692 chr2 74329202 74329202 G A rs765661531 TET3 Nonsynonymous SNV V1670I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.631 107693 chr2 74594058 74594058 C A rs754657052 DCTN1 Nonsynonymous SNV G639V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 15.15 107694 chr11 34156107 34156107 A C rs200962843 NAT10 Nonsynonymous SNV I557L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 107695 chr4 121958249 121958249 T G rs148222810 NDNF Nonsynonymous SNV I293L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.2 107696 chr5 140774430 140774430 C T rs758408774 PCDHGA8 Nonsynonymous SNV P684S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.505 107697 chr4 22389456 22389456 A G rs144568977 ADGRA3 Nonsynonymous SNV S1280P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 27.2 107698 chr4 22425837 22425837 C T rs61745011 ADGRA3 Nonsynonymous SNV G528S 0.005 0.016 0.007 5 6 6 0.013 2 0 0 0 0 9.265 107699 chr4 123664546 123664546 T C rs145392789 BBS12 Nonsynonymous SNV V500A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 107700 chr2 242684159 242684159 C A rs147210645 D2HGDH Synonymous SNV T106T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.6 107701 chr11 403230 403247 GGCGCTGCAGAACATCAC - PKP3 L632_A637del 0 0 0.003 0 0 0 0 1 0 0 0 0 107702 chr4 125631262 125631262 G A rs148745093 ANKRD50 Synonymous SNV C135C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 6.675 107703 chr4 178283483 178283483 G A rs149552701 NEIL3 Nonsynonymous SNV R559H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 32 107704 chr11 43921054 43921054 T C rs3824948 SEC14L1P1 0 0 0.051 0 0 0 0 15 0 0 3 0 2.158 107705 chr2 25851128 25851128 A G rs375755281 DTNB Synonymous SNV L35L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 10.55 107706 chr4 2744227 2744227 G A rs112058145 TNIP2 Synonymous SNV A266A 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 11.07 107707 chr2 26414457 26414457 A G rs768784732 HADHA Nonsynonymous SNV F681L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 107708 chr2 26696039 26696039 G A rs749458515 OTOF Nonsynonymous SNV R542W 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Uncertain significance 26.5 107709 chr4 140417671 140417671 G T SETD7 Nonsynonymous SNV Q309K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 107710 chr4 140616417 140616417 C T rs8192098 MGST2 Synonymous SNV N7N 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 Benign 13.57 107711 chr11 45793034 45793034 C G rs79229167 LINC02716 0 0 0.02 0 0 0 0 6 0 0 0 0 5.759 107712 chr11 45975130 45975130 C T rs3736508 PHF21A Nonsynonymous SNV R347H 0.019 0.008 0.02 10 22 3 0.026 6 1 0 1 1 23.6 107713 chr11 4608441 4608441 T C OR52I2 Synonymous SNV F133F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 107714 chr2 97587363 97587363 G A rs377110345 FAM178B Nonsynonymous SNV P439L 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 107715 chr2 27346918 27346918 A G ABHD1 Synonymous SNV A34A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.966 107716 chr4 3076606 3076606 - CAGCAG HTT Q38_P39insQQ 0.003 0.003 0 0 4 1 0 0 0 0 0 0 107717 chr11 46680975 46680975 G A rs150797770 ATG13 Synonymous SNV P164P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 107718 chr11 46782179 46782179 G A rs57477011 CKAP5 Synonymous SNV D1459D 0.02 0.026 0.02 17 23 10 0.044 6 0 0 0 1 4.676 107719 chr3 25775434 25775434 C T NGLY1 Nonsynonymous SNV E379K 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 24.9 107720 chr5 148407892 148407892 G A rs6874630 SH3TC2 Nonsynonymous SNV A468V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.422 107721 chr3 27436597 27436597 G A rs114662202 SLC4A7 Nonsynonymous SNV P777S 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 14.43 107722 chr11 47306745 47306745 G A rs376589140 MADD Nonsynonymous SNV R804Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 107723 chr2 99614680 99614680 G T rs149325770 TSGA10 Nonsynonymous SNV L584I 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 12.51 107724 chr4 151793903 151793903 T C rs72719663 LRBA Nonsynonymous SNV I724V 0.011 0.013 0.017 1 13 5 0.003 5 0 0 0 0 Benign 12.59 107725 chr11 47355196 47355196 G A rs200663253 MYBPC3 Synonymous SNV A1034A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.18 107726 chr11 47755667 47755667 T C rs200849402 FNBP4 Synonymous SNV E534E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.084 107727 chr2 29129425 29129425 G A rs768674240 WDR43 Nonsynonymous SNV V155I 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 3.609 107728 chr3 3186394 3186394 G A rs750995691 TRNT1 Nonsynonymous SNV R203K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 29.8 107729 chr4 38776712 38776712 A G rs11466650 TLR10 Nonsynonymous SNV L167P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.4 107730 chr11 48152054 48152054 G A rs770168631 PTPRJ Synonymous SNV T467T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.202 107731 chr11 48161067 48161067 G A rs181029182 PTPRJ Nonsynonymous SNV E728K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 107732 chr3 36931334 36931334 C G rs542746912 TRANK1 Nonsynonymous SNV G254A 0.004 0 0 0 5 0 0 0 0 0 0 0 23.8 107733 chr2 31489285 31489285 G C EHD3 Synonymous SNV V441V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.726 107734 chr4 42415020 42415020 C T rs146513232 ATP8A1 Synonymous SNV A1121A 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 14 107735 chr4 159162759 159162759 G A rs148238920 TMEM144 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 107736 chr4 44692775 44692775 A T rs764719180 GUF1 Nonsynonymous SNV Q135H 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23.4 107737 chr4 164050056 164050056 T G rs143001503 NAF1 Nonsynonymous SNV Y493S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.9 107738 chr4 165962468 165962468 T C rs201735168 TRIM60 Nonsynonymous SNV I415T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 107739 chr4 52860750 52860750 G A rs201852965 LRRC66 Nonsynonymous SNV P813L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 7.973 107740 chr4 169176982 169176982 A G DDX60 Nonsynonymous SNV V1146A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.533 107741 chr4 53494181 53494181 T C rs61761593 USP46 Synonymous SNV T82T 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 3.794 107742 chr4 53610642 53610642 G A rs61731316 ERVMER34-1 Nonsynonymous SNV P349L 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 22.4 107743 chr4 48604065 48604065 A G FRYL Nonsynonymous SNV F336S 0.003 0 0 0 4 0 0 0 0 0 0 0 24.4 107744 chr3 112997026 112997026 G A rs752313669 BOC Nonsynonymous SNV G543R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 107745 chr4 169433132 169433132 A G rs762355888 PALLD Synonymous SNV Q159Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 107746 chr2 43814011 43814011 T C THADA Nonsynonymous SNV M145V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 107747 chr4 17814715 17814715 T C rs140348838 NCAPG Nonsynonymous SNV L164P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.2 107748 chr4 56766011 56766011 T C rs140797241 EXOC1 Synonymous SNV Y751Y 0.007 0 0 1 8 0 0.003 0 0 0 0 0 0.264 107749 chr4 1817499 1817499 G T rs147463751 LETM1 Synonymous SNV I654I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 107750 chr4 184366707 184366707 G C rs748434981 CDKN2AIP Nonsynonymous SNV D98H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 107751 chr3 118909892 118909892 A G rs78761311 UPK1B Nonsynonymous SNV N137D 0.008 0.008 0.017 4 9 3 0.01 5 0 1 0 0 17.88 107752 chr4 185612505 185612505 A G rs28405816 PRIMPOL Nonsynonymous SNV D212G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.026 107753 chr2 53992622 53992622 G C rs36020289 ASB3, GPR75-ASB3 Nonsynonymous SNV L68V 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 11.05 107754 chr4 185615692 185615700 CAGATGAAG - rs145762735 PRIMPOL A400_E402del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 107755 chr4 185623529 185623529 T C rs35102949 CENPU Synonymous SNV Q288Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.064 107756 chr2 55252401 55252401 G A rs141079866 RTN4 Nonsynonymous SNV T739I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.02 107757 chr3 121215672 121215672 G A rs756379760 POLQ Nonsynonymous SNV S754L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 107758 chr3 121217487 121217487 T C rs746816498 POLQ Nonsynonymous SNV I664V 0.009 0.003 0 6 11 1 0.015 0 0 0 0 0 23.3 107759 chr5 173534432 173534432 C G rs765846192 NSG2 Nonsynonymous SNV A147G 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 107760 chr4 47455100 47455100 T C rs150753801 COMMD8 Nonsynonymous SNV I167M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 18.29 107761 chr4 68441208 68441208 C G STAP1 Nonsynonymous SNV Q100E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.72 107762 chr4 517639 517639 G A rs200850789 PIGG Nonsynonymous SNV R536H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 35 107763 chr4 69968592 69968592 T G rs753902054 UGT2B7 Nonsynonymous SNV V313G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 107764 chr3 121659683 121659683 C T rs145814457 SLC15A2 Synonymous SNV A642A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 15.67 107765 chr4 187078745 187078745 A G rs113168248 FAM149A Nonsynonymous SNV K201E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.495 107766 chr4 70359516 70359516 T C UGT2B4 Nonsynonymous SNV I255M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 107767 chr4 187088399 187088399 G T rs111681837 FAM149A Nonsynonymous SNV G453V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 107768 chr11 550192 550192 C A rs61736743 LRRC56 Nonsynonymous SNV Q182K 0.003 0 0.01 6 3 0 0.015 3 0 0 0 0 3.057 107769 chr4 1902507 1902507 C T rs147926959 NSD2 Synonymous SNV R42R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 107770 chr4 188924601 188924601 C G rs61748605 ZFP42 Nonsynonymous SNV P214A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.1 107771 chr11 551161 551161 G A rs138291757 LRRC56 Nonsynonymous SNV V219M 0.003 0 0.007 6 3 0 0.015 2 0 0 0 0 28.5 107772 chr3 4810230 4810230 C T ITPR1 Nonsynonymous SNV R1858W 0.004 0 0 0 5 0 0 0 0 0 0 0 33 107773 chr4 73149121 73149121 G A ADAMTS3 Nonsynonymous SNV A1117V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.56 107774 chr11 554003 554003 T G rs138194233 LRRC56 Synonymous SNV P452P 0.003 0 0.01 6 3 0 0.015 3 0 0 0 0 0.072 107775 chr11 555317 555317 T C rs143504198 LMNTD2 Synonymous SNV E587E 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.052 107776 chr11 55579514 55579514 A G rs573026758 OR5L1 Nonsynonymous SNV D191G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 107777 chr11 555835 555835 A C rs181920428 LMNTD2 Synonymous SNV P491P 0.003 0 0.007 5 3 0 0.013 2 0 0 0 0 0.012 107778 chr11 555999 555999 G A rs200729988 LMNTD2 Synonymous SNV G458G 0.003 0 0.003 6 3 0 0.015 1 0 0 0 0 10.66 107779 chr3 49934809 49934809 C T rs148694532 MST1R Nonsynonymous SNV R590Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 23 107780 chr3 49936626 49936626 G A rs2230591 MST1R Nonsynonymous SNV S434L 0.006 0.01 0.007 7 7 4 0.018 2 0 0 0 0 0.072 107781 chr4 7698969 7698969 A G rs201276538 SORCS2 Nonsynonymous SNV I546V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 6.978 107782 chr3 50005270 50005270 G A rs374962140 RBM6 Nonsynonymous SNV G138R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 107783 chr4 3318418 3318418 C T rs374671224 RGS12 Nonsynonymous SNV S174L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 107784 chr4 30724073 30724073 C A rs748630195 PCDH7 Synonymous SNV I343I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.93 107785 chr3 128200145 128200145 G A GATA2 Nonsynonymous SNV T373I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 107786 chr4 3211660 3211660 C A HTT Nonsynonymous SNV A2133D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 107787 chr4 36160443 36160443 T C rs761684862 ARAP2 Synonymous SNV Q887Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.018 107788 chr3 52265230 52265230 A G rs371300057 TWF2 Synonymous SNV A132A 0.003 0 0 0 3 0 0 0 0 0 0 0 2.876 107789 chr4 6695715 6695715 C T rs199731575 S100P Nonsynonymous SNV S19L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 107790 chr4 68357907 68357907 T C CENPC Nonsynonymous SNV I828V 0.009 0 0 2 10 0 0.005 0 0 0 0 0 0.378 107791 chr5 36066797 36066797 C T rs777625854 UGT3A2 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.4 107792 chr4 40245516 40245516 C G rs61731758 RHOH Synonymous SNV A170A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 7.169 107793 chr4 81504292 81504292 G A rs1486020 CFAP299 Synonymous SNV T96T 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 10.73 107794 chr3 56597805 56597805 A G rs754333464 CCDC66 Nonsynonymous SNV K33E 0.003 0 0 0 3 0 0 0 0 0 0 0 6.685 107795 chr4 83839213 83839213 A G rs35040354 THAP9 Synonymous SNV L616L 0.008 0.005 0.003 8 9 2 0.021 1 0 0 0 0 0.005 107796 chr5 40945381 40945381 T A rs763798109 C7 Nonsynonymous SNV S217T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.359 107797 chr4 41015796 41015796 T C rs182442220 APBB2 Synonymous SNV R213R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.003 107798 chr4 41015808 41015808 C T rs186729446 APBB2 Synonymous SNV Q209Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 3.522 107799 chr4 83748747 83748747 T A rs147781122 SEC31A Synonymous SNV S869S 0.015 0.018 0.007 4 18 7 0.01 2 0 0 0 0 3.434 107800 chr4 83784534 83784534 C A rs201191800 SEC31A Nonsynonymous SNV E477D 0.006 0 0 2 7 0 0.005 0 0 0 0 0 23.4 107801 chr5 42719241 42719241 C T rs201163683 GHR Synonymous SNV I522I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.847 107802 chr4 467928 467928 C T rs145658186 ABCA11P 0.003 0 0 0 3 0 0 0 0 0 0 0 4.889 107803 chr4 47663839 47663839 A T rs374976508 CORIN Nonsynonymous SNV S438T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.9 107804 chr4 88036262 88036262 C A rs61734707 AFF1 Synonymous SNV L390L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.43 107805 chr3 66436412 66436412 G A rs11553628 LRIG1 Synonymous SNV T594T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 8.721 107806 chr5 52396318 52396318 C T rs756459695 MOCS2 Nonsynonymous SNV A142T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.9 107807 chr4 54343120 54343120 G A rs374591085 LNX1 Synonymous SNV V468V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.557 107808 chr4 79308580 79308580 G A rs199940702 FRAS1 Nonsynonymous SNV A1234T 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Likely benign 16.36 107809 chr2 97359720 97359720 C G FER1L5 Nonsynonymous SNV P1183A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 107810 chr5 54320175 54320175 C T rs6450282 GZMK Synonymous SNV L9L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.517 107811 chr3 142142403 142142403 G A rs772740589 XRN1 Nonsynonymous SNV R237W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 107812 chr4 56448397 56448397 T C rs375222009 PDCL2 Nonsynonymous SNV N5S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 107813 chr4 5570323 5570323 G A rs776832054 EVC2 Synonymous SNV P1055P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.606 107814 chr4 90169424 90169424 C T rs148884438 GPRIN3 Nonsynonymous SNV G613D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 107815 chr4 57176842 57176842 C T rs776810551 CRACD Nonsynonymous SNV T99M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 107816 chr4 94145795 94145795 C T rs371885400 GRID2 Nonsynonymous SNV L237F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 107817 chr11 57367768 57367768 C T rs150601964 SERPING1 Synonymous SNV A156A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.93 107818 chr4 57204666 57204666 C T AASDH Nonsynonymous SNV V582I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 107819 chr11 57886280 57886280 C T rs113763198 OR9I1 Nonsynonymous SNV V213I 0.003 0 0.014 2 3 0 0.005 4 0 0 1 0 5.415 107820 chr3 101484019 101484019 G T rs138793922 CEP97 Nonsynonymous SNV R682I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.97 107821 chr4 57829718 57829718 G A rs148362007 NOA1 Synonymous SNV N665N 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 11.01 107822 chr5 6607487 6607487 T C NSUN2 Nonsynonymous SNV K410R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 107823 chr4 5975547 5975547 G A rs115926780 C4orf50 Nonsynonymous SNV R1136W 0.026 0.031 0.037 6 30 12 0.015 11 0 0 1 0 28 107824 chr3 150398311 150398311 C A rs144597450 ERICH6 Nonsynonymous SNV R206L 0.005 0.005 0.02 1 6 2 0.003 6 0 0 0 0 14.94 107825 chr3 150874057 150874057 G T rs201089474 MED12L Nonsynonymous SNV E222D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.05 107826 chr5 111504782 111504782 C A rs17266567 EPB41L4A Nonsynonymous SNV R587L 0.017 0.021 0.014 9 20 8 0.023 4 0 0 0 0 28.6 107827 chr4 65180454 65180454 G C rs752222821 TECRL Nonsynonymous SNV L155V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 107828 chr4 6606907 6606907 G A rs61745007 MAN2B2 Synonymous SNV P504P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.924 107829 chr5 109904158 109904158 T C rs77909347 TMEM232 Nonsynonymous SNV N482S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 0.008 107830 chr3 15271950 15271950 A G rs145089568 CAPN7 Nonsynonymous SNV I314V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 20.4 107831 chr5 110835669 110835669 C T rs753473500 STARD4 Nonsynonymous SNV R80H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 35 107832 chr5 70828207 70828207 G A rs199778972 BDP1 Nonsynonymous SNV V1949M 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 23.5 107833 chr11 59599205 59599205 C T rs144070828 CBLIF Nonsynonymous SNV V380I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.2 107834 chr4 71458085 71458085 T A AMBN Nonsynonymous SNV S4T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 107835 chr4 961538 961538 C G rs199893491 DGKQ Nonsynonymous SNV E288D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.398 107836 chr11 60636736 60636736 G A rs552694200 ZP1 Synonymous SNV E105E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 4.485 107837 chr4 7436514 7436514 C T rs780613090 PSAPL1 Synonymous SNV T31T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 107838 chr4 76812805 76812805 G A rs141362188 PPEF2 Synonymous SNV N79N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.042 107839 chr3 119530571 119530571 C T rs201775074 NR1I2 Nonsynonymous SNV R173W 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 107840 chr5 127419802 127419802 C G rs540907216 SLC12A2 Nonsynonymous SNV D52E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.471 107841 chr5 110454719 110454719 A G rs34595252 WDR36 Nonsynonymous SNV D658G 0.005 0 0.01 2 6 0 0.005 3 1 0 0 0 Likely benign 29.3 107842 chr5 127727814 127727814 A C FBN2 Nonsynonymous SNV H500Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.59 107843 chr4 79353587 79353587 C G rs35219594 FRAS1 Nonsynonymous SNV D1682E 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23 107844 chr5 131705723 131705723 T A rs144020613 SLC22A5 Nonsynonymous SNV L20H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.61 107845 chr5 131726578 131726578 A G rs139775414 SLC22A5 Nonsynonymous SNV M417V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.09 107846 chr5 131728225 131728225 A G rs142355575 SLC22A5 Synonymous SNV T456T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.009 107847 chr5 131729880 131729880 G T rs148233131 SLC22A5 Nonsynonymous SNV M530I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 4.001 107848 chr5 131976474 131976503 ATCTCTTGCACATGCTCTGGTTGAGTAAGT - rs864622532 RAD50 S1244_E1251del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 107849 chr5 131995889 131995889 G A rs140828306 IL13 Nonsynonymous SNV R119Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.01 107850 chr5 1320757 1320757 C T rs140841923 CLPTM1L Synonymous SNV V502V 0.001 0.003 0 5 1 1 0.013 0 0 0 0 1 12.69 107851 chr4 79455637 79455637 C T rs755221317 FRAS1 Nonsynonymous SNV R3654C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 107852 chr4 79434608 79434608 C T rs569027154 FRAS1 Nonsynonymous SNV P3359L 0.002 0 0 0 2 0 0 0 0 0 0 0 35 107853 chr5 135382130 135382130 C T rs180743451 TGFBI Synonymous SNV P135P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.56 107854 chr5 133901832 133901832 G A rs372736198 JADE2 Synonymous SNV A332A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.141 107855 chr5 134229208 134229208 C T rs553513714 TXNDC15 Synonymous SNV N138N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 107856 chr4 81188080 81188080 C T rs369885510 FGF5 Synonymous SNV P34P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.98 107857 chr4 123664109 123664109 G C rs34296401 BBS12 Synonymous SNV V354V 0.024 0.01 0.02 12 28 4 0.031 6 0 0 0 1 Benign 0.114 107858 chr4 123664247 123664247 G A rs309371 BBS12 Synonymous SNV V400V 0.026 0.01 0.02 11 31 4 0.028 6 0 0 0 1 Benign 0.687 107859 chr4 123664256 123664256 G A rs17006092 BBS12 Synonymous SNV V403V 0.024 0.01 0.02 11 28 4 0.028 6 0 0 0 1 Benign 0.566 107860 chr5 121309945 121309945 C T rs199498382 SRFBP1 Nonsynonymous SNV L31F 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 28.6 107861 chr5 121413513 121413513 G A rs1036096526 LOX Synonymous SNV S56S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.54 107862 chr4 123838682 123838682 T C NUDT6 Nonsynonymous SNV Y139C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 107863 chr5 1255433 1255433 G A rs377570406 TERT Synonymous SNV L979L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.046 107864 chr4 8229083 8229083 C T rs371221202 SH3TC1 Synonymous SNV G478G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.145 107865 chr4 8448318 8448318 - T TRMT44 0.001 0 0 0 1 0 0 0 0 0 0 0 107866 chr5 138729660 138729660 G T rs777761279 PROB1 Synonymous SNV R371R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.44 107867 chr4 142951305 142951305 C T rs758176283 INPP4B Synonymous SNV A931A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.05 107868 chr4 88047328 88047328 C T rs144038967 AFF1 Nonsynonymous SNV P515L 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 25 107869 chr11 64217467 64217467 C G rs76247963 LINC02724 0 0 0.065 0 0 0 0 19 0 0 0 0 0.216 107870 chr11 644614 644614 G C rs34114147 DEAF1 Nonsynonymous SNV A470G 0.003 0 0.014 2 3 0 0.005 4 0 0 0 0 Benign/Likely benign 3.01 107871 chr11 64521118 64521118 - C PYGM Frameshift insertion L338Afs*49 0 0 0.003 0 0 0 0 1 0 0 0 0 107872 chr3 194150823 194150823 A C rs200408820 ATP13A3 Nonsynonymous SNV S919A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.38 107873 chr5 140811030 140811030 C T rs139195027 PCDHGA12 Nonsynonymous SNV A235V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.74 107874 chr4 151773141 151773141 T A rs149689496 LRBA Nonsynonymous SNV I1241F 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 26 107875 chr11 64863755 64863755 G C VPS51 Synonymous SNV P11P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.951 107876 chr11 64883442 64883442 C T rs760211079 TM7SF2 Nonsynonymous SNV R365W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 107877 chr4 153896982 153896982 G A rs144772738 FHDC1 Nonsynonymous SNV G847S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign 10.54 107878 chr4 155157871 155157871 A G rs111455548 DCHS2 Synonymous SNV L2645L 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 0.167 107879 chr4 155158090 155158090 A C rs111684589 DCHS2 Nonsynonymous SNV S2572A 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 19.6 107880 chr4 155160424 155160424 - C rs546143621 DCHS2 Frameshift insertion Y2464Vfs*15 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 107881 chr4 155160429 155160429 A G rs150004475 DCHS2 Nonsynonymous SNV V2462A 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 0.186 107882 chr5 138730231 138730231 A G rs142054513 PROB1 Synonymous SNV P180P 0.006 0 0 4 7 0 0.01 0 0 0 0 0 0.47 107883 chr11 65547607 65547607 C T rs193141152 AP5B1 Synonymous SNV R119R 0.005 0.003 0.014 1 6 1 0.003 4 0 0 1 0 12.85 107884 chr6 109787705 109787705 G A rs369787979 ZBTB24 Synonymous SNV C481C 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 10.05 107885 chr4 155249289 155249289 G A rs111557030 DCHS2 Nonsynonymous SNV P1325L 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 9.667 107886 chr5 13931345 13931345 C T DNAH5 Synonymous SNV L22L 0.009 0 0 2 10 0 0.005 0 0 0 0 0 11.44 107887 chr5 148384455 148384455 T A rs146920285 SH3TC2 Nonsynonymous SNV D1229V 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 107888 chr5 139931765 139931765 G A rs768937714 SRA1 Synonymous SNV P64P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.79 107889 chr5 109963510 109963510 A C rs61732341 TMEM232 Nonsynonymous SNV H191Q 0.017 0.008 0 4 20 3 0.01 0 0 0 0 0 20.9 107890 chr5 109973945 109973945 G A rs78510152 TMEM232 Nonsynonymous SNV A152V 0.02 0.01 0 5 23 4 0.013 0 0 0 0 0 23.3 107891 chr5 110082014 110082014 C T rs35220834 SLC25A46 Synonymous SNV V143V 0.02 0.01 0 5 23 4 0.013 0 0 0 0 0 Benign 12.93 107892 chr5 149391845 149391845 C T rs138303033 HMGXB3 Nonsynonymous SNV P114S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.3 107893 chr5 149512407 149512407 G A rs2229558 PDGFRB Nonsynonymous SNV P281S 0.012 0.008 0.007 1 14 3 0.003 2 0 0 0 0 Benign/Likely benign 5.679 107894 chr6 116574322 116574322 C G rs201105782 TSPYL4 Nonsynonymous SNV V284L 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 23.1 107895 chr3 27472837 27472837 G A rs374363330 SLC4A7 Synonymous SNV L368L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.239 107896 chr4 1646038 1646038 C T rs28716351 FAM53A Nonsynonymous SNV R305H 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 2.94 107897 chr5 112222851 112222851 C T rs745340401 REEP5 Synonymous SNV P127P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 107898 chr5 112346477 112346477 C T rs776321450 DCP2 Nonsynonymous SNV R323W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 107899 chr5 112403779 112403779 G A rs35269015 MCC Nonsynonymous SNV P486L 0.014 0.023 0.003 2 17 9 0.005 1 0 0 0 0 20.8 107900 chr3 141299293 141299293 G A RASA2 Synonymous SNV K558K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.17 107901 chr3 33161922 33161922 A G rs35357409 CRTAP Synonymous SNV A186A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 9.217 107902 chr11 67433662 67433662 C T rs145268144 ALDH3B2 Nonsynonymous SNV V84M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.4 107903 chr4 169589425 169589425 A T rs761874862 PALLD Synonymous SNV I331I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.691 107904 chr5 121412686 121412686 G A rs534087196 LOX Synonymous SNV D214D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.687 107905 chr5 140763665 140763665 A G rs185786686 PCDHGA7 Nonsynonymous SNV N400S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 13.07 107906 chr5 140780015 140780015 A G rs750585724 PCDHGB5 Nonsynonymous SNV D774G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.22 107907 chr3 150908517 150908517 T C rs34561681 MED12L Synonymous SNV S589S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.221 107908 chr5 127622474 127622474 G T rs17608368 FBN2 Synonymous SNV I2316I 0.032 0.029 0.048 6 38 11 0.015 14 0 0 0 0 Benign 13.03 107909 chr6 130154708 130154708 G A TMEM244 Synonymous SNV V72V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.594 107910 chr5 126156763 126156763 A G rs756699174 LMNB1 Nonsynonymous SNV N231S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.814 107911 chr6 130374109 130374109 G A L3MBTL3 Synonymous SNV E160E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.05 107912 chr5 127863579 127863579 G A rs147157552 FBN2 Nonsynonymous SNV T173I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.8 107913 chr5 149602716 149602716 G A rs376355423 CAMK2A Synonymous SNV G423G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 13.21 107914 chr5 128440752 128440752 G C ISOC1 Nonsynonymous SNV S138T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.95 107915 chr3 151598434 151598434 G A rs755026819 SUCNR1 Nonsynonymous SNV V35I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 107916 chr5 131298273 131298273 C T rs148539410 ACSL6 Synonymous SNV R504R 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 15.94 107917 chr3 15455356 15455356 G A rs73818921 METTL6 Synonymous SNV A238A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.423 107918 chr3 15493181 15493181 G T rs73818504 COLQ Synonymous SNV I412I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 15.27 107919 chr3 155232669 155232669 T C rs772166961 PLCH1 Nonsynonymous SNV N480S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 107920 chr5 162058 162058 C A rs138857981 PLEKHG4B Nonsynonymous SNV T883K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.079 107921 chr3 15717421 15717421 A C rs2292088 ANKRD28 Synonymous SNV L799L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 6.129 107922 chr3 41841779 41841779 G A rs189598385 ULK4 Nonsynonymous SNV R317C 0.003 0.008 0 0 4 3 0 0 0 0 0 0 27 107923 chr6 138483304 138483304 C G ARFGEF3 Synonymous SNV A27A 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 107924 chr3 15731536 15731536 A T rs13314410 ANKRD28 Synonymous SNV I467I 0.003 0 0.014 0 3 0 0 4 0 0 1 0 5.36 107925 chr5 133901970 133901970 G A rs571104259 JADE2 Synonymous SNV T378T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.235 107926 chr5 134022498 134022498 C A rs201822745 SEC24A Nonsynonymous SNV P504T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 107927 chr11 75141628 75141628 - C rs764939964 KLHL35 Frameshift insertion A16Gfs*182 0 0 0.003 0 0 0 0 1 0 0 0 0 107928 chr11 75141630 75141630 - CGCACGGACCCGCGCACGGCGCC rs750116924 KLHL35 Frameshift insertion H23Efs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 107929 chr5 151150282 151150282 C T LOC100652758 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.189 107930 chr11 75508258 75508258 T C rs143850439 DGAT2 Synonymous SNV S187S 0.012 0.018 0.01 10 14 7 0.026 3 0 0 0 0 Benign 7.967 107931 chr5 135385208 135385208 C A rs189359867 TGFBI Synonymous SNV A284A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.99 107932 chr3 167728142 167728142 C T rs542482925 GOLIM4 Nonsynonymous SNV R641Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.12 107933 chr5 170239193 170239193 C T GABRP Synonymous SNV S418S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 107934 chr5 137522945 137522945 C T rs3172747 KIF20A Nonsynonymous SNV P839L 0.009 0.01 0.024 6 11 4 0.015 7 0 0 0 0 33 107935 chr3 167747707 167747707 C T rs140974195 GOLIM4 Nonsynonymous SNV E404K 0.003 0.003 0.01 3 3 1 0.008 3 0 0 0 0 34 107936 chr3 170002333 170002333 A G rs139464453 PRKCI Synonymous SNV V384V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.582 107937 chr5 138658658 138658658 - GG rs772660614 MATR3 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 107938 chr5 138725496 138725496 A G rs114473756 MZB1 Nonsynonymous SNV I17T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 13.13 107939 chr5 149748403 149748403 C T rs181203524 TCOF1 Nonsynonymous SNV T168M 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Benign/Likely benign 9.695 107940 chr5 13923528 13923528 C G rs144236383 DNAH5 Nonsynonymous SNV G100A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 107941 chr11 7870631 7870631 C G rs11041601 OR5E1P 0 0 0.02 0 0 0 0 6 0 0 0 0 4.701 107942 chr6 151672851 151672851 G A rs773533698 AKAP12 Nonsynonymous SNV G1004R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 107943 chr3 179047508 179047508 A G rs754340502 ZNF639 Nonsynonymous SNV D54G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 107944 chr5 140077210 140077210 G C rs138090816 HARS2 Nonsynonymous SNV Q274H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.13 107945 chr5 163395 163395 C T rs762271174 PLEKHG4B Nonsynonymous SNV R1070C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 26.7 107946 chr5 150908938 150908938 T C rs368672824 FAT2 Nonsynonymous SNV N3276S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.97 107947 chr5 140181415 140181415 A G rs372863331 PCDHA3 Synonymous SNV L211L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.536 107948 chr3 47451436 47451436 G A rs150385027 PTPN23 Synonymous SNV P590P 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 7.382 107949 chr5 140254930 140254930 A T rs183266244 LOC112267934 0.003 0 0 0 4 0 0 0 0 0 0 0 9.447 107950 chr6 154567885 154567885 G A rs201296055 IPCEF1, OPRM1 Nonsynonymous SNV R408H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.988 107951 chr5 179729468 179729468 C T rs11557568 GFPT2 Synonymous SNV P653P 0.008 0.021 0 4 9 8 0.01 0 0 0 0 0 11.13 107952 chr5 140307265 140307265 G C rs200338376 PCDHAC1 Nonsynonymous SNV G263A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 107953 chr3 184064573 184064573 C T rs77317531 CLCN2 Nonsynonymous SNV E796K 0.001 0 0 0 1 0 0 0 0 0 0 0 30 107954 chr4 38937405 38937405 T C rs200908766 FAM114A1 Synonymous SNV T303T 0.003 0 0 0 4 0 0 0 0 0 0 0 3.112 107955 chr11 93839293 93839293 C T HEPHL1 Synonymous SNV F1014F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 107956 chr5 140480244 140480244 G A PCDHB3 Nonsynonymous SNV G4E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 107957 chr6 159654307 159654307 G A rs776074375 FNDC1 Synonymous SNV R921R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.952 107958 chr5 180486730 180486730 C T rs138408414 BTNL9 Synonymous SNV D492D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.11 107959 chr5 159399049 159399049 - CGCCGCCGA rs764801657 ADRA1B R380_L381insRRR 0.001 0 0 1 1 0 0.003 0 0 0 0 0 107960 chr5 140712234 140712234 C T PCDHGA1 Synonymous SNV T661T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.144 107961 chr4 40356522 40356522 A G CHRNA9 Nonsynonymous SNV I475M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.04 107962 chr11 9522748 9522748 A G rs776964389 ZNF143 Nonsynonymous SNV T329A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 107963 chr3 185234896 185234896 G A rs150268336 LIPH Nonsynonymous SNV T314M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.3 107964 chr3 185542695 185542695 G A rs751518961 IGF2BP2 Synonymous SNV D18D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.63 107965 chr3 186358435 186358436 GA - rs544439289 FETUB R63Tfs*28 0.003 0 0 0 4 0 0 0 0 0 0 0 107966 chr5 177547330 177547330 G C N4BP3 Nonsynonymous SNV G161A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.916 107967 chr5 167617410 167617410 C T rs748990955 TENM2 Nonsynonymous SNV R648W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 107968 chr5 33462017 33462017 A G rs72737350 TARS1 Nonsynonymous SNV I546V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 107969 chr5 178417596 178417596 C T rs375765382 GRM6 Nonsynonymous SNV D337N 0.013 0.013 0 5 15 5 0.013 0 0 0 0 0 20.5 107970 chr5 141316861 141316861 C T rs569705414 DELE1 Synonymous SNV A416A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 107971 chr4 47898575 47898575 G A rs35139099 NFXL1 Nonsynonymous SNV R432C 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 34 107972 chr12 101727119 101727119 G A rs372292737 UTP20 Nonsynonymous SNV R1153H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 33 107973 chr3 188327107 188327107 C T rs55674610 LPP Synonymous SNV I196I 0.007 0.013 0 0 8 5 0 0 0 0 0 0 Benign 17.7 107974 chr5 146258290 146258290 - GCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSS 0.014 0.005 0.007 4 16 2 0.01 2 1 0 1 1 107975 chr5 33998931 33998931 A G rs145786819 AMACR Nonsynonymous SNV V185A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 107976 chr5 146788328 146788328 G A rs201487610 DPYSL3 Nonsynonymous SNV T332I 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 32 107977 chr5 142662156 142662156 T C NR3C1 Nonsynonymous SNV K720E 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 107978 chr3 52556393 52556393 G A rs112141268 STAB1 Synonymous SNV L2171L 0.004 0.008 0.007 0 5 3 0 2 1 0 0 0 1.267 107979 chr5 14374397 14374397 C T rs145133665 TRIO Synonymous SNV S1092S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.9 107980 chr5 179268995 179268995 C T rs141029325 MRNIP Nonsynonymous SNV E66K 0.009 0 0.007 8 11 0 0.021 2 0 0 0 0 21.3 107981 chr5 179298491 179298491 C T rs11545788 TBC1D9B Nonsynonymous SNV E819K 0.009 0 0.007 7 11 0 0.018 2 0 0 0 0 34 107982 chr12 104390582 104390582 G A rs531399775 GLT8D2 Synonymous SNV H177H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.978 107983 chr5 1474111 1474111 A G LPCAT1 Synonymous SNV V380V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.186 107984 chr5 36195305 36195305 T C rs138382380 NADK2 Nonsynonymous SNV I424V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 20.2 107985 chr12 104698487 104698487 A G rs74722368 EID3 Nonsynonymous SNV I259V 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 25.1 107986 chr4 57244314 57244314 C A rs73240543 AASDH Nonsynonymous SNV R123L 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 25.8 107987 chr5 180582294 180582294 C T rs758818035 OR2V2 Nonsynonymous SNV L118F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.69 107988 chr5 176863180 176863182 GAA - rs762010958 GRK6 K181del 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 107989 chr3 57908666 57908666 G T SLMAP Nonsynonymous SNV M238I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.34 107990 chr6 17649494 17649494 G A rs61756067 NUP153 Nonsynonymous SNV P478L 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 31 107991 chr4 619770 619770 C A rs776648520 PDE6B Nonsynonymous SNV L119M 0.003 0 0 0 4 0 0 0 0 0 0 0 21.2 107992 chr3 19554593 19554593 G A rs115216381 KCNH8 Synonymous SNV S737S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.474 107993 chr4 6290748 6290748 C T rs141225426 WFS1 Nonsynonymous SNV T117M 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 7.707 107994 chr3 58520147 58520147 C T rs367555146 ACOX2 Nonsynonymous SNV R88Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.668 107995 chr5 2749004 2749004 - CCT IRX2 E272_G273insE 0.001 0 0 0 1 0 0 0 0 0 0 0 107996 chr4 668009 668009 G A rs76028807 ATP5ME Nonsynonymous SNV L10F 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 23.4 107997 chr3 196733596 196733596 C T rs148616625 MELTF Nonsynonymous SNV E588K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 31 107998 chr5 150227736 150227736 G C rs180802994 IRGM Nonsynonymous SNV E17D 0.005 0 0.017 1 6 0 0.003 5 0 0 0 0 0.079 107999 chr4 68379896 68379896 G A rs374045875 CENPC Nonsynonymous SNV S447L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.42 108000 chr12 109921492 109921492 C T rs149953168 UBE3B Nonsynonymous SNV R46W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 108001 chr5 179264796 179264796 C T MRNIP Synonymous SNV R154R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.34 108002 chr3 73433761 73433761 G T rs542719140 PDZRN3 Synonymous SNV L350L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.745 108003 chr5 154275840 154275840 A G rs141010715 GEMIN5 Nonsynonymous SNV S1136P 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 7.836 108004 chr5 150925336 150925336 G A rs779279856 FAT2 Synonymous SNV P1784P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.688 108005 chr4 69973974 69973974 T A rs144232904 UGT2B7 Nonsynonymous SNV V415E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.2 108006 chr3 77542460 77542460 C T rs567065372 ROBO2 Nonsynonymous SNV R245C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 108007 chr3 25805681 25805681 T G NGLY1 Nonsynonymous SNV K123T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.966 108008 chr4 71067196 71067196 A G rs758918657 ODAM Nonsynonymous SNV Y185C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.8 108009 chr5 36049244 36049244 A G rs200492917 UGT3A2 Nonsynonymous SNV F163S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 108010 chr12 113645953 113645953 C T rs749984572 IQCD Nonsynonymous SNV A7T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.464 108011 chr3 89499442 89499442 T C EPHA3 Nonsynonymous SNV F871S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 108012 chr5 15500815 15500815 C T rs375118384 FBXL7 Synonymous SNV G10G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.12 108013 chr12 117187859 117187859 G A rs148340092 RNFT2 Synonymous SNV G99G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.325 108014 chr5 37183585 37183585 T C rs143312971 CPLANE1 Synonymous SNV L1566L 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 Benign/Likely benign 0.172 108015 chr5 157161603 157161603 G A rs146534011 THG1L Nonsynonymous SNV A5T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 21.2 108016 chr12 117657991 117657991 G T rs2293044 NOS1 Synonymous SNV V1017V 0.006 0.003 0.007 7 7 1 0.018 2 0 0 0 0 8.54 108017 chr3 97594818 97594818 A G rs574313724 CRYBG3 Nonsynonymous SNV M1594V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.024 108018 chr12 117768154 117768154 C T rs76090928 NOS1 Nonsynonymous SNV D241N 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Likely benign 24.6 108019 chr6 28219612 28219612 G C rs375570190 ZKSCAN4 Synonymous SNV P49P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.236 108020 chr5 160029625 160029625 G A rs778302387 ATP10B Nonsynonymous SNV R1108C 0.003 0.003 0 4 3 1 0.01 0 0 0 0 1 35 108021 chr5 159833548 159833548 G C rs142542308 SLU7 Nonsynonymous SNV T420R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.8 108022 chr5 63257006 63257006 G A HTR1A Nonsynonymous SNV R181C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 108023 chr5 41862819 41862819 G A rs76956231 OXCT1 Nonsynonymous SNV R38C 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 19.87 108024 chr3 37367144 37367144 G A rs376650078 GOLGA4 Nonsynonymous SNV R1256H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 108025 chr6 28294209 28294210 CT - rs145866852 ZSCAN31 E161Kfs*4 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 108026 chr12 121469391 121469391 G C rs372469551 OASL Nonsynonymous SNV P171A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.918 108027 chr3 99567424 99567424 G A rs549292963 FILIP1L Synonymous SNV F792F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.862 108028 chr4 100057641 100057641 A G rs768205793 ADH4 Synonymous SNV Y186Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.362 108029 chr12 122354197 122354197 A G rs766842397 PSMD9 Nonsynonymous SNV I113V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 108030 chr5 71516795 71516795 G C rs148261939 MRPS27 Nonsynonymous SNV Q340E 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 0.027 108031 chr5 71756519 71756519 C A rs142021145 ZNF366 Nonsynonymous SNV V269F 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 27.7 108032 chr12 122729240 122729240 G A rs201831186 VPS33A Nonsynonymous SNV T271M 0 0 0.003 0 0 0 0 1 0 0 0 0 29 108033 chr12 122745951 122745951 C G rs147687101 VPS33A Nonsynonymous SNV V103L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 25.4 108034 chr5 38950175 38950175 C T rs778981659 RICTOR Nonsynonymous SNV V1259I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 108035 chr4 100789312 100789312 G A rs191421902 DAPP1 Synonymous SNV T271T 0.01 0.003 0 0 12 1 0 0 0 0 0 0 8.257 108036 chr5 55088486 55088486 C A rs201103498 DDX4 Synonymous SNV I291I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.78 108037 chr5 55147459 55147467 ATTGTGAGT - rs769795818 IL31RA I21del 0.001 0 0 0 1 0 0 0 0 0 0 0 108038 chr5 74014663 74014663 A G rs774418612 HEXB Synonymous SNV A428A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.184 108039 chr3 42251577 42251577 - GGAGGAGGA TRAK1 E624_G625insEEE 0.011 0.005 0 3 13 2 0.008 0 0 0 0 0 108040 chr5 61651020 61651020 T A KIF2A Nonsynonymous SNV M198K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 108041 chr4 106621088 106621088 T C rs144650579 INTS12 Synonymous SNV K25K 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 2.387 108042 chr5 76028566 76028566 T G rs5894 F2R Synonymous SNV S172S 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Benign 4.147 108043 chr5 6714475 6714475 G A TENT4A Nonsynonymous SNV G127S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.84 108044 chr5 178415945 178415945 G A rs149837815 GRM6 Nonsynonymous SNV R449C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 33 108045 chr5 178415954 178415954 G A rs764476239 GRM6 Stop gain R446X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 108046 chr6 35248940 35248940 G A rs139970455 ZNF76 Synonymous SNV L4L 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 12.03 108047 chr5 68414334 68414334 G A rs61749603 SLC30A5 Nonsynonymous SNV R483Q 0.016 0.01 0.014 3 19 4 0.008 4 0 0 0 0 Benign 35 108048 chr6 35255590 35255590 G A rs141811881 ZNF76 Nonsynonymous SNV A134T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 9.123 108049 chr5 178419001 178419001 G A rs756171835 GRM6 Synonymous SNV P196P 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.857 108050 chr6 35278355 35278355 C T rs150977102 DEF6 Synonymous SNV F119F 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 15.21 108051 chr3 44285557 44285557 G A rs375712603 TOPAZ1 Nonsynonymous SNV R520H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 108052 chr6 35427537 35427537 G T rs776298967 FANCE Nonsynonymous SNV G439V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.9 108053 chr5 53751966 53751966 G C rs150931007 HSPB3 Nonsynonymous SNV R116P 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 108054 chr6 35443481 35443481 G A rs374944915 TEAD3 Synonymous SNV A301A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.28 108055 chr12 129559175 129559175 G A rs142956798 TMEM132D Nonsynonymous SNV L849F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 2.248 108056 chr5 54281318 54281318 G A rs142082865 ESM1 Nonsynonymous SNV L10F 0.005 0 0 0 6 0 0 0 0 0 0 0 19.01 108057 chr5 70849006 70849006 T G rs375877631 BDP1 Nonsynonymous SNV D2353E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 4.59 108058 chr5 70939669 70939669 C G MCCC2 Nonsynonymous SNV P328A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 27 108059 chr4 115544654 115544654 G T rs147467972 UGT8 Synonymous SNV G206G 0.01 0.003 0.003 5 12 1 0.013 1 0 0 0 0 Benign 6.555 108060 chr5 176885487 176885487 C G DBN1 Nonsynonymous SNV A182P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.427 108061 chr5 180001061 180001061 A G rs139424567 CNOT6 Nonsynonymous SNV H417R 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 11.4 108062 chr4 88733023 88733023 C T rs141863190 IBSP Synonymous SNV Y305Y 0.002 0 0 0 2 0 0 0 0 0 0 0 3.54 108063 chr5 55168132 55168132 A G rs59086632 IL31RA Nonsynonymous SNV N84D 0.008 0.003 0.02 3 9 1 0.008 6 0 0 0 0 0.306 108064 chr5 176932050 176932050 G A rs751175202 DOK3 Nonsynonymous SNV P43L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.784 108065 chr4 88902774 88902774 G A rs138638879 SPP1 Nonsynonymous SNV E81K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.6 108066 chr4 120214159 120214159 C T rs113769565 USP53 Synonymous SNV N954N 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 13.19 108067 chr3 46415393 46415393 C A rs147879075 CCR5 Synonymous SNV R334R 0.004 0 0 4 5 0 0.01 0 0 0 0 0 19.29 108068 chr3 46449164 46449164 G A rs11574440 CCRL2 Star tloss M1? 0.005 0 0 4 6 0 0.01 0 0 0 0 0 11.87 108069 chr5 74017589 74017589 C G GFM2 Nonsynonymous SNV R697P 0.001 0 0 0 1 0 0 0 0 0 0 0 35 108070 chr6 38980036 38980036 A C rs200416428 DNAH8 Nonsynonymous SNV I4256L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 27 108071 chr5 74065177 74065177 A G rs34654949 NSA2 Synonymous SNV R110R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 108072 chr12 133281253 133281253 C T PXMP2 Synonymous SNV L190L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 108073 chr6 39158947 39158947 C T rs147451811 KCNK5 Nonsynonymous SNV A407T 0.003 0.003 0.017 0 3 1 0 5 0 0 0 0 Benign 11.4 108074 chr6 39278682 39278682 G A rs145488671 KCNK17 Synonymous SNV T113T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.73 108075 chr12 133393137 133393137 T C GOLGA3 Nonsynonymous SNV E132G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 108076 chr6 40400342 40400342 G A rs375737141 LRFN2 Nonsynonymous SNV R171C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 108077 chr5 192152 192152 G A rs140234009 LRRC14B Nonsynonymous SNV G167S 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 12.92 108078 chr5 82817330 82817330 G A rs377090663 VCAN Nonsynonymous SNV D1069N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.85 108079 chr5 33448792 33448792 C A rs141305584 TARS Nonsynonymous SNV A95E 0.009 0.008 0.007 3 10 3 0.008 2 0 1 0 0 28.9 108080 chr12 15677884 15677884 G C rs755582546 PTPRO Nonsynonymous SNV K676N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 108081 chr5 33549337 33549337 G A rs144560370 ADAMTS12 Nonsynonymous SNV A1341V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 108082 chr5 89925039 89925039 A C rs61744480 ADGRV1 Nonsynonymous SNV I508L 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 108083 chr3 47680237 47680237 G T SMARCC1 Nonsynonymous SNV P785H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 108084 chr3 47890770 47890770 C T rs770518555 DHX30 Synonymous SNV N1006N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.922 108085 chr12 1769533 1769533 T G rs117723462 MIR3649 0 0 0.01 0 0 0 0 3 0 0 0 0 3.031 108086 chr3 47891183 47891183 C T rs777224548 DHX30 Synonymous SNV S1085S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 108087 chr6 42890886 42890886 C T rs752303292 PTCRA Synonymous SNV P60P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 108088 chr6 42893067 42893067 C T rs773597378 PTCRA Synonymous SNV L58L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.524 108089 chr5 180480275 180480275 C T rs200246533 BTNL9 Nonsynonymous SNV A271V 0.004 0 0 0 5 0 0 0 0 0 0 0 9.744 108090 chr3 49337979 49337979 G A rs748590334 USP4 Nonsynonymous SNV T431M 0.005 0 0 4 6 0 0.01 0 0 0 0 0 28.4 108091 chr5 10261764 10261764 C G rs141675330 CCT5 Nonsynonymous SNV I307M 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.21 108092 chr3 49698413 49698413 C G rs373255318 BSN Synonymous SNV P3045P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.713 108093 chr5 35963013 35963013 G A rs1036323532 UGT3A1 Nonsynonymous SNV S241F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.249 108094 chr6 44081596 44081596 G A rs144415562 MRPL14 Nonsynonymous SNV A107V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 108095 chr5 94814075 94814075 T C rs755273078 TTC37 Synonymous SNV Q1428Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.022 108096 chr12 22637674 22637674 T C rs62000366 C2CD5 Nonsynonymous SNV T503A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.084 108097 chr12 22814023 22814023 A G rs75025746 ETNK1 Nonsynonymous SNV Q195R 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 14.68 108098 chr4 13606600 13606600 C T rs151278291 BOD1L1 Nonsynonymous SNV D642N 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 27.4 108099 chr5 82789493 82789493 G A rs141008923 VCAN Nonsynonymous SNV G192R 0.005 0 0.02 2 6 0 0.005 6 0 0 0 0 Likely benign 34 108100 chr5 38921742 38921742 A C rs200213166 OSMR Synonymous SNV A537A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 108101 chr3 51696619 51696619 C G rs142087841 RAD54L2 Nonsynonymous SNV P1196R 0.005 0 0 5 6 0 0.013 0 0 0 0 0 12.99 108102 chr4 140811064 140811081 TGCTGCTGCTGCTGCTGC - MAML3 Q505_Q510del 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 108103 chr5 33989510 33989510 C T rs35655488 AMACR Synonymous SNV T279T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15.06 108104 chr5 89985795 89985795 T C rs200055351 ADGRV1 Nonsynonymous SNV V2203A 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 Benign/Likely benign 23.6 108105 chr6 47254244 47254244 C T rs148598211 TNFRSF21 Nonsynonymous SNV G62S 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 23.1 108106 chr5 7900056 7900056 A G rs148909799 MTRR Nonsynonymous SNV H661R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.79 108107 chr5 115808629 115808629 T A SEMA6A Nonsynonymous SNV I578F 0.003 0 0 0 4 0 0 0 0 0 0 0 22.1 108108 chr5 98109845 98109845 G A rs921279140 RGMB Nonsynonymous SNV G24E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.027 108109 chr6 100841642 100841642 C A SIM1 Nonsynonymous SNV D431Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 108110 chr5 52160876 52160876 C A ITGA1 Nonsynonymous SNV S152R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 108111 chr4 153690727 153690727 G A rs138411753 TIGD4 Nonsynonymous SNV T477I 0.003 0.008 0.003 0 3 3 0 1 0 1 0 0 9.732 108112 chr5 122425971 122425971 - CCTCCGCCTCCTCCGCCT rs199942027 PRDM6 S95_C96insASSASS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 108113 chr12 39161472 39161472 A T rs146830726 CPNE8 Synonymous SNV P180P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.087 108114 chr5 79030051 79030051 A G rs765408656 CMYA5 Synonymous SNV Q1821Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.063 108115 chr5 54516290 54516290 G A rs375687696 MCIDAS Synonymous SNV S354S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.08 108116 chr6 109220926 109220926 G A rs367783758 ARMC2 Nonsynonymous SNV A95T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.013 108117 chr5 52340911 52340911 G A ITGA2 Nonsynonymous SNV G126R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 108118 chr3 53856611 53856611 G A rs200429726 CHDH Synonymous SNV L254L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 108119 chr12 4702230 4702230 G A rs12306130 DYRK4 Nonsynonymous SNV A61T 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 13.71 108120 chr5 55272089 55272089 A C rs762203264 IL6ST Synonymous SNV T6T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 108121 chr12 4722717 4722717 A T rs1801016 DYRK4 Nonsynonymous SNV D168V 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 15.94 108122 chr12 4735970 4735970 - CTTGTCATCTCCCAGCTTGTCATCTCCCAG rs527978551 AKAP3 K699_S700insLGDDKLGDDK 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 108123 chr3 56680925 56680925 A T rs149882815 TASOR Nonsynonymous SNV L218I 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 22.9 108124 chr6 111694142 111694142 C G rs753723553 REV3L Nonsynonymous SNV E1806Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.16 108125 chr12 48063954 48063954 T C RPAP3 Nonsynonymous SNV T454A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.832 108126 chr5 43245944 43245944 G A rs143879963 NIM1K Nonsynonymous SNV D23N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 23.9 108127 chr5 43280318 43280318 T C rs61734290 NIM1K Synonymous SNV T266T 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 0.119 108128 chr6 56765362 56765362 G A rs748769120 DST Nonsynonymous SNV R92C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 108129 chr3 62358196 62358196 - CCGCCG rs753783625 FEZF2 G117_A118insGG 0.003 0 0.014 0 3 0 0 4 0 0 0 0 108130 chr5 61874620 61874621 AA - rs754254082 IPO11-LRRC70 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 108131 chr12 49168554 49168554 G A rs762510361 ADCY6 Synonymous SNV L696L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 108132 chr5 137480912 137480912 G C rs76971809 BRD8 Nonsynonymous SNV P1131A 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign 11.36 108133 chr12 49231759 49231759 C A DDX23 Nonsynonymous SNV R195S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 108134 chr3 66431059 66431059 G C rs140051529 LRIG1 Nonsynonymous SNV N999K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 108135 chr5 137520549 137520549 G C KIF20A Nonsynonymous SNV Q579H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.76 108136 chr5 137622226 137622226 C T rs149379419 CDC25C Nonsynonymous SNV V301M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 33 108137 chr3 66436538 66436538 G A rs140362329 LRIG1 Synonymous SNV D552D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.039 108138 chr5 73197089 73197089 G A rs188040167 ARHGEF28 Nonsynonymous SNV V1039I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22 108139 chr4 170398357 170398357 A T rs368611367 NEK1 Nonsynonymous SNV D687E 0.003 0 0 0 3 0 0 0 0 0 0 0 7.377 108140 chr5 137726943 137726943 C G rs200501442 KDM3B Nonsynonymous SNV T541S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.34 108141 chr6 74119013 74119013 C A rs764552710 DDX43 Nonsynonymous SNV P408T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 108142 chr5 95011189 95011189 A G rs55796768 SPATA9 Nonsynonymous SNV L102S 0.008 0.016 0.007 1 9 6 0.003 2 0 0 0 0 14.64 108143 chr6 121615804 121615804 T C rs765547882 TBC1D32 Synonymous SNV V381V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.284 108144 chr6 121638681 121638681 C T rs775961751 TBC1D32 Nonsynonymous SNV R152H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.6 108145 chr3 81754732 81754732 A G rs28763904 GBE1 Nonsynonymous SNV I59T 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 Benign/Likely benign 23.3 108146 chr4 176923467 176923467 C T rs901478290 GPM6A Nonsynonymous SNV G92E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 108147 chr5 63905019 63905019 C T rs145523601 RGS7BP Synonymous SNV Y105Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.86 108148 chr5 140166534 140166534 C A rs149577981 PCDHA1 Nonsynonymous SNV P220Q 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 27.9 108149 chr5 98199148 98199148 T G CHD1 Nonsynonymous SNV E1464A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 108150 chr6 88138418 88138418 T C rs776856828 CFAP206 Synonymous SNV N345N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.04 108151 chr5 7889387 7889387 C T rs144781389 MTRR Synonymous SNV L442L 0.009 0.003 0.01 1 11 1 0.003 3 1 0 0 0 Benign/Likely benign 0.336 108152 chr6 106967831 106967831 T C rs144881884 CRYBG1 Synonymous SNV S508S 0.009 0 0 5 11 0 0.013 0 0 0 0 0 0.795 108153 chr12 52960823 52960823 C A rs140304074 KRT74 Nonsynonymous SNV G507V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.32 108154 chr6 90581080 90581080 C A rs374433157 CASP8AP2 Synonymous SNV A1955A 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 17.28 108155 chr5 77423965 77423965 A C rs115892142 AP3B1 Synonymous SNV L570L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.013 108156 chr6 109548313 109548313 C T CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.008 108157 chr6 96034857 96034857 T C rs113930286 MANEA Nonsynonymous SNV I181T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 108158 chr5 79616942 79616942 T C rs759432533 SPZ1 Nonsynonymous SNV L303P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.2 108159 chr6 130465865 130465865 T C SAMD3 Nonsynonymous SNV R479G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.65 108160 chr4 187540909 187540909 A G rs1056530207 FAT1 Synonymous SNV N2277N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 108161 chr12 53566174 53566174 A T rs149264090 CSAD Nonsynonymous SNV H100Q 0.003 0 0.007 0 4 0 0 2 0 0 0 0 23.4 108162 chr6 147655340 147655340 T A rs1041636048 STXBP5 Nonsynonymous SNV C710S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.59 108163 chr6 112443347 112443347 G T rs372872387 LAMA4 Synonymous SNV R1449R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.299 108164 chr4 103645088 103645088 C T rs372371751 MANBA Synonymous SNV V103V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 108165 chr12 53880923 53880923 C T MAP3K12 Nonsynonymous SNV E85K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 108166 chr5 93731818 93731818 A T rs888492610 KIAA0825 Nonsynonymous SNV L1095Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 108167 chr6 116265542 116265542 C T rs55871204 FRK Synonymous SNV A335A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.951 108168 chr6 139694925 139694925 C T CITED2 Nonsynonymous SNV G53S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 108169 chr4 3076609 3076609 - CAGCAG HTT Q38_P39insQQ 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 108170 chr5 98129167 98129167 T C rs184318049 RGMB Synonymous SNV L342L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 108171 chr12 56094816 56094816 C T rs145463677 ITGA7 Synonymous SNV G179G 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.86 108172 chr4 115766991 115766991 G A rs35449662 NDST4 Synonymous SNV Y701Y 0.01 0.005 0.01 2 12 2 0.005 3 0 0 0 0 3.822 108173 chr6 126080870 126080870 G A rs201084537 HEY2 Synonymous SNV T312T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.507 108174 chr6 10874563 10874563 - CTGGTAGGC rs551375300 GCM2 Q395_P396insAYQ 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 108175 chr7 100550500 100550500 T C rs796432486 MUC3A Synonymous SNV L361L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.815 108176 chr7 100550586 100550586 - AAG MUC3A T389_T390insK 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 108177 chr6 155154253 155154253 A G rs147943454 SCAF8 Synonymous SNV R1180R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.759 108178 chr7 100550594 100550596 CTG - rs369199410 MUC3A T392_E393delinsK 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 108179 chr5 149776385 149776387 AGA - rs574569798 TCOF1 K1367del 0.014 0 0.007 4 16 0 0.01 2 1 0 0 0 108180 chr6 109520795 109520795 C G rs72939037 CCDC162P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 20.7 108181 chr6 106555109 106555109 C G rs149556668 PRDM1 Synonymous SNV L608L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.721 108182 chr4 122732827 122732827 G A rs750256049 EXOSC9 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.3 108183 chr6 155574095 155574095 G A rs377260703 TIAM2 Nonsynonymous SNV R303Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 108184 chr7 100550613 100550613 T C MUC3A Synonymous SNV S398S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.157 108185 chr6 152652719 152652719 G A rs140136749 SYNE1 Synonymous SNV I4296I 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.299 108186 chr4 41615111 41615111 - G rs751130840 LIMCH1 Frameshift insertion K8Qfs*4 0.003 0.013 0 10 4 5 0.026 0 0 0 0 0 108187 chr6 152694308 152694308 A G rs756079906 SYNE1 Nonsynonymous SNV M3131T 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 Uncertain significance 15.41 108188 chr6 132649638 132649638 G A rs757760900 MOXD1 Synonymous SNV S253S 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 9.259 108189 chr6 132891512 132891512 G T rs147336892 TAAR6 Nonsynonymous SNV V18L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.044 108190 chr6 155732418 155732418 C T rs780733439 NOX3 Nonsynonymous SNV R462Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.58 108191 chr12 64671466 64671466 G A rs73327140 C12orf56 Synonymous SNV D316D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.225 108192 chr12 6471346 6471346 C T rs142409152 SCNN1A Nonsynonymous SNV R308K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.9 108193 chr6 109771257 109771257 C T rs147498741 MICAL1 Nonsynonymous SNV R322Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 108194 chr12 64784117 64784117 G A rs201426742 C12orf56 Nonsynonymous SNV R77W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 108195 chr5 151239498 151239498 G A rs762489154 GLRA1 Synonymous SNV D25D 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign 1.974 108196 chr5 151784592 151784592 C A rs150054462 NMUR2 Nonsynonymous SNV S28I 0.006 0.005 0.014 1 7 2 0.003 4 0 0 0 0 23.5 108197 chr6 159461781 159461781 C G rs142994072 TAGAP Nonsynonymous SNV E124D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.5 108198 chr6 16290848 16290848 - AC rs147049568 GMPR Frameshift insertion R286Tfs*28 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 108199 chr12 6936195 6936195 - GGCCTCTC GPR162 Frameshift insertion P251Afs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 108200 chr6 10874806 10874806 T C rs114070356 GCM2 Nonsynonymous SNV N315D 0.014 0.005 0 7 17 2 0.018 0 0 0 0 0 Benign/Likely benign 23.1 108201 chr6 16327897 16327897 C A rs184327938 ATXN1 Nonsynonymous SNV Q215H 0.013 0.016 0 0 15 6 0 0 0 0 0 0 Likely benign 2.927 108202 chr6 16327903 16327903 C A rs3817753 ATXN1 Nonsynonymous SNV Q213H 0.014 0.01 0 4 17 4 0.01 0 0 0 0 0 Likely benign 2.693 108203 chr6 16327907 16327909 TGA - rs770305044 ATXN1 H211del 0.007 0.013 0 0 8 5 0 0 0 0 0 0 108204 chr6 16327915 16327915 A C rs11969612 ATXN1 Nonsynonymous SNV H209Q 0.014 0.018 0.01 2 16 7 0.005 3 0 0 0 0 0.002 108205 chr6 16306866 16306866 G A rs2072737 ATXN1 Synonymous SNV D714D 0.01 0.008 0.003 10 12 3 0.026 1 0 0 0 1 7.713 108206 chr12 74686333 74686333 C G rs140773078 LOC100507377 0 0 0.014 0 0 0 0 4 0 0 0 0 6.176 108207 chr6 121613215 121613215 C A rs369009845 TBC1D32 Nonsynonymous SNV K452N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 108208 chr7 100732092 100732092 G A rs374848286 TRIM56 Nonsynonymous SNV R500Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 108209 chr6 12161883 12161883 G C rs200863826 HIVEP1 Nonsynonymous SNV R2233S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.746 108210 chr4 154502706 154502706 A T rs139705683 TMEM131L Nonsynonymous SNV T296S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 108211 chr6 152129399 152129399 T C rs200075329 ESR1 Nonsynonymous SNV S118P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 26.7 108212 chr6 166831731 166831731 C T rs144777715 RPS6KA2 Synonymous SNV S542S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 108213 chr5 168189673 168189673 C G rs147560182 SLIT3 Nonsynonymous SNV R494T 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 22.8 108214 chr6 167417775 167417775 G T rs150980464 FGFR1OP Nonsynonymous SNV E108D 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 15.06 108215 chr6 129786341 129786341 G A rs141476898 LAMA2 Nonsynonymous SNV D2403N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 108216 chr6 170153962 170153962 A C rs61736820 ERMARD Synonymous SNV V3V 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 Benign 0.935 108217 chr6 170155460 170155460 C A rs61735516 ERMARD Nonsynonymous SNV T86N 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Benign 3.392 108218 chr6 170176445 170176445 G A rs7749929 ERMARD Synonymous SNV T512T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 2.193 108219 chr7 107198501 107198501 T C rs776828196 COG5 Nonsynonymous SNV I83V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.5 108220 chr6 152779950 152779950 A G SYNE1 Nonsynonymous SNV I844T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 12.49 108221 chr6 117858365 117858365 A G DCBLD1 Nonsynonymous SNV K246R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 19.95 108222 chr6 154360696 154360696 C T rs1799972 OPRM1 Nonsynonymous SNV A6V 0.007 0.01 0.01 1 8 4 0.003 3 0 0 0 0 8.947 108223 chr6 154411134 154411134 C T rs202022370 OPRM1 Nonsynonymous SNV T55I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27 108224 chr5 175815415 175815415 G A rs376729124 NOP16 Nonsynonymous SNV R8W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.699 108225 chr6 169620363 169620363 G A rs59953407 THBS2 Synonymous SNV G1147G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.7 108226 chr6 169621542 169621542 G C rs61730648 THBS2 Synonymous SNV P1118P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.681 108227 chr6 169622325 169622325 G A rs33925221 THBS2 Synonymous SNV N1080N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.263 108228 chr6 169625295 169625295 G A rs61739589 THBS2 Synonymous SNV P906P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.028 108229 chr6 169639746 169639746 G T rs6925000 THBS2 Synonymous SNV T359T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.688 108230 chr6 169982991 169982991 G A rs77357984 WDR27 Nonsynonymous SNV R631W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 108231 chr6 170047953 170047953 C T rs6938667 WDR27 Nonsynonymous SNV V334M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.93 108232 chr6 170049350 170049350 C G rs7744717 WDR27 Nonsynonymous SNV K310N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 108233 chr4 71346969 71346969 C A rs969157540 MUC7 Nonsynonymous SNV P170T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.527 108234 chr5 176931262 176931262 C T rs753699273 DOK3 Nonsynonymous SNV E349K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 108235 chr6 139094637 139094637 - A rs9321672 GVQW2 0.003 0.003 0 0 4 1 0 0 0 0 0 0 108236 chr6 26056348 26056348 G A H1-2 Synonymous SNV G103G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.082 108237 chr7 123517193 123517193 G A rs117488620 HYAL4 Nonsynonymous SNV R477Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.016 108238 chr12 95603801 95603801 T A rs764184866 FGD6 Nonsynonymous SNV K420I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.715 108239 chr12 95907635 95907635 G A rs111453050 METAP2 Synonymous SNV L441L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 7.397 108240 chr6 26393081 26393081 A G rs1052746443 BTN2A2 Synonymous SNV L276L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.157 108241 chr6 26393086 26393086 C G rs912940685 BTN2A2 Nonsynonymous SNV S278C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 108242 chr6 26393090 26393090 T G rs376227483 BTN2A2 Nonsynonymous SNV D279E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.425 108243 chr6 24532392 24532392 T C rs58747567 ALDH5A1 Synonymous SNV D415D 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 Benign 0.218 108244 chr12 96707198 96707198 A G rs145149401 CDK17 Synonymous SNV D106D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.497 108245 chr5 179226230 179226230 C T rs761290023 MGAT4B Synonymous SNV S389S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 16.6 108246 chr12 9885706 9885706 - GT rs747782269 CLECL1 Frameshift insertion S52Yfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 108247 chr6 152652890 152652890 G A rs760209358 SYNE1 Synonymous SNV D4239D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.724 108248 chr6 16290835 16290835 A T GMPR Synonymous SNV G280G 0.006 0.003 0 0 7 1 0 0 0 0 0 0 3.741 108249 chr6 138566695 138566695 C T rs754653328 ARFGEF3 Nonsynonymous SNV T211I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 108250 chr4 177109269 177109269 C T rs140274312 SPATA4 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 108251 chr7 128481312 128481312 G A rs12536635 FLNC Synonymous SNV E634E 0.017 0.008 0.01 3 20 3 0.008 3 0 0 0 0 Benign 10.68 108252 chr6 166779476 166779476 C G MPC1 Synonymous SNV R54R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.38 108253 chr13 103384931 103384931 T A CCDC168 Nonsynonymous SNV K6039I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 108254 chr6 155503430 155503430 C T rs59134422 TIAM2 Synonymous SNV P926P 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 15.45 108255 chr5 180683505 180683505 - T TRIM52 Frameshift insertion N275Kfs*8 0.003 0 0 1 4 0 0.003 0 0 0 0 0 108256 chr6 157454234 157454234 C T rs150140314 ARID1B Nonsynonymous SNV S52L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 35 108257 chr6 157488190 157488190 G A rs34786733 ARID1B Nonsynonymous SNV G203S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 21.4 108258 chr5 1878496 1878496 - GGCGGC rs548751399 IRX4 A382_T383insAA 0.002 0 0 0 2 0 0 0 0 0 0 0 108259 chr6 144086752 144086752 C G rs200996920 PHACTR2 Nonsynonymous SNV P270R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.672 108260 chr6 157522223 157522223 A T rs34870395 ARID1B Nonsynonymous SNV M789L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 8.908 108261 chr4 184175018 184175018 T G WWC2 Synonymous SNV L354L 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 7.248 108262 chr6 3077184 3077184 A T rs184897325 RIPK1 Nonsynonymous SNV I43F 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Uncertain significance 23.7 108263 chr6 158579375 158579375 G C rs139301835 SERAC1 Nonsynonymous SNV C7W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 108264 chr6 152639316 152639316 C A rs530429418 SYNE1 Nonsynonymous SNV G5420V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 108265 chr6 158923722 158923722 G A rs34762353 TULP4 Synonymous SNV L1009L 0.005 0.01 0.01 0 6 4 0 3 0 0 0 0 Likely benign 0.007 108266 chr7 135291554 135291554 C G rs61756073 NUP205 Nonsynonymous SNV I629M 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24 108267 chr5 34823722 34823722 A C RAI14 Nonsynonymous SNV K563T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.4 108268 chr13 111109670 111109670 A C rs9515217 COL4A2-AS2 Nonsynonymous SNV D134E 0.004 0.01 0.02 4 5 4 0.01 6 1 0 0 1 0.548 108269 chr13 111367866 111367866 G C rs142522461 ING1 Nonsynonymous SNV A26P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 108270 chr6 157150520 157150520 G A rs765362265 ARID1B Nonsynonymous SNV G568R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 108271 chr6 158508015 158508015 C T rs61748684 SYNJ2 Nonsynonymous SNV P876S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 108272 chr5 35965889 35965889 C A rs893807195 UGT3A1 Nonsynonymous SNV D148Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.1 108273 chr6 160494928 160494928 A G rs11552587 IGF2R Nonsynonymous SNV Q1696R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.59 108274 chr13 113978823 113978823 G A rs201011333 GRTP1 Nonsynonymous SNV P211L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 108275 chr6 35748890 35748890 G A rs374315046 CLPSL1 Star tloss M2del 0.003 0 0 0 3 0 0 0 0 0 0 0 12.81 108276 chr7 139572120 139572120 T C TBXAS1 Nonsynonymous SNV F59S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.7 108277 chr4 187630769 187630769 C G rs764372245 FAT1 Nonsynonymous SNV R71S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 22.9 108278 chr6 35911976 35911976 G A rs115969164 SLC26A8 Synonymous SNV L767L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.528 108279 chr13 114453704 114453705 GT - rs754313760 LINC00552 0 0 0.003 0 0 0 0 1 0 0 0 0 108280 chr6 25556985 25556985 C T rs761629624 CARMIL1 Synonymous SNV I883I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 108281 chr5 39202457 39202457 C T rs369993453 FYB1 Synonymous SNV P212P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 6.676 108282 chr4 2178018 2178018 G T rs61748688 POLN Nonsynonymous SNV T408K 0.008 0.013 0.007 4 9 5 0.01 2 1 0 0 0 14.02 108283 chr13 21549235 21549235 G C rs45523141 LATS2 Nonsynonymous SNV A1014G 0.003 0.008 0.014 0 4 3 0 4 0 0 0 0 0.119 108284 chr13 21750542 21750542 C T rs370084478 SKA3 Synonymous SNV L25L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 108285 chr6 37138158 37138158 A G PIM1 Nonsynonymous SNV Q27R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.95 108286 chr4 95220654 95220654 G A rs373744321 HPGDS Stop gain R193X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 108287 chr5 41000383 41000383 C T rs189708836 MROH2B Nonsynonymous SNV R1474H 0.005 0 0 0 6 0 0 0 0 0 0 0 17.99 108288 chr7 141721534 141721534 T C rs782790272 MGAM Nonsynonymous SNV V236A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 108289 chr6 37631863 37631863 G A rs35454763 MDGA1 Synonymous SNV I29I 0.011 0.003 0.003 5 13 1 0.013 1 0 0 0 0 8.688 108290 chr13 23929378 23929378 G A rs61729954 SACS Nonsynonymous SNV T311I 0.009 0.005 0.014 5 10 2 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 108291 chr5 434196 434196 G A rs149786309 AHRR Synonymous SNV S451S 0.015 0.01 0.003 2 18 4 0.005 1 0 0 0 0 8.992 108292 chr13 25459467 25459467 C T rs182528406 CENPJ Nonsynonymous SNV E1142K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.675 108293 chr6 167728815 167728815 G A rs149481536 UNC93A Nonsynonymous SNV V375I 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 13.58 108294 chr7 143095466 143095466 C T rs143535859 EPHA1 Nonsynonymous SNV R471Q 0.007 0.005 0.017 3 8 2 0.008 5 0 0 0 0 15.62 108295 chr5 482786 482786 G A rs143144929 SLC9A3 Synonymous SNV Y411Y 0.017 0.01 0.014 2 20 4 0.005 4 0 0 0 0 Benign 0.031 108296 chr4 3076603 3076603 - CAGCAGCAGCAGCAG HTT Q38_P39insQQQQQ 0.01 0.003 0 5 12 1 0.013 0 0 0 0 0 108297 chr5 102530663 102530663 C T rs140969708 PPIP5K2 Nonsynonymous SNV P1067S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 108298 chr13 28494440 28494440 C A rs530567443 PDX1 Synonymous SNV G55G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 18.78 108299 chr6 159239054 159239054 T C rs369408948 EZR-AS1 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 6.53 108300 chr4 37447714 37447714 C T rs112050427 NWD2 Synonymous SNV T1368T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.352 108301 chr7 148978822 148978822 C T rs755551565 ZNF783 Synonymous SNV R343R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.989 108302 chr4 38696385 38696385 C T rs142916199 KLF3 Synonymous SNV I238I 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 16.19 108303 chr13 35747681 35747681 A G rs41292197 NBEA Nonsynonymous SNV S1502G 0.007 0.016 0.014 2 8 6 0.005 4 0 0 0 0 15.85 108304 chr13 36242513 36242513 C A rs41292209 NBEA Synonymous SNV L662L 0.011 0.016 0.024 9 13 6 0.023 7 0 0 0 0 17.96 108305 chr5 63665535 63665535 G A rs966779018 RNF180 Nonsynonymous SNV G558E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 108306 chr6 26020976 26020976 A G rs145571906 H3C1 Nonsynonymous SNV S87G 0.003 0 0 0 3 0 0 0 0 0 0 0 13.23 108307 chr6 17629192 17629192 C T NUP153 Nonsynonymous SNV G1038R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 108308 chr5 64838642 64838642 A T CENPK Stop gain L92X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 39 108309 chr6 38899659 38899659 C T rs147729642 DNAH8 Nonsynonymous SNV P3566S 0.003 0 0 0 4 0 0 0 0 0 0 0 27 108310 chr5 65349840 65349840 C T rs376466979 ERBIN Synonymous SNV T898T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 7.694 108311 chr6 26156993 26156993 G T rs61729264 HIST1H1E Synonymous SNV A125A 0.012 0 0.02 2 14 0 0.005 6 0 0 0 0 Benign 1.674 108312 chr4 4276475 4276475 C A rs2272739 LYAR Nonsynonymous SNV D151Y 0.004 0.013 0.003 4 5 5 0.01 1 0 0 0 0 23 108313 chr13 42877758 42877758 C T rs61753630 AKAP11 Nonsynonymous SNV R1626C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.005 108314 chr6 46661488 46661488 A G rs41273662 TDRD6 Nonsynonymous SNV N1875D 0.028 0.029 0.024 14 33 11 0.036 7 0 0 0 1 3.362 108315 chr7 150772411 150772411 C T rs149482871 SLC4A2 Synonymous SNV I1030I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 108316 chr6 46661744 46661744 A G rs778939116 TDRD6 Nonsynonymous SNV H1960R 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 0.001 108317 chr7 151065854 151065854 C A NUB1 Nonsynonymous SNV P401T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 108318 chr6 26459791 26459791 C T rs72500817 BTN2A1 Synonymous SNV P55P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.77 108319 chr6 50740488 50740488 G A rs148321478 TFAP2D Nonsynonymous SNV G424S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 20.4 108320 chr6 27277365 27277365 G A rs61736085 POM121L2 Nonsynonymous SNV T862I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.31 108321 chr4 48485850 48485850 C G rs752991725 SLC10A4 Nonsynonymous SNV P91R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.6 108322 chr6 27277610 27277610 A G rs61736084 POM121L2 Synonymous SNV N780N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.429 108323 chr5 71494593 71494593 C A rs767578125 MAP1B Nonsynonymous SNV T1678N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 108324 chr13 49281496 49281496 C T rs141963167 CYSLTR2 Synonymous SNV N181N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.298 108325 chr13 49719919 49719919 C T rs74965684 FNDC3A Synonymous SNV S219S 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Benign 16.03 108326 chr6 27805975 27805975 G T rs149494377 H2AC15 Nonsynonymous SNV A48E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28 108327 chr6 28251716 28251716 T A rs1150723 PGBD1 Synonymous SNV I42I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.1 108328 chr4 55968651 55968651 C T rs149740758 KDR Nonsynonymous SNV G671E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 9.742 108329 chr6 5086319 5086319 C T rs1037322681 PPP1R3G Synonymous SNV L200L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.19 108330 chr6 28295310 28295310 C G rs6922302 ZSCAN31 Nonsynonymous SNV A128P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.491 108331 chr4 5687206 5687206 A G rs764307512 EVC2 Nonsynonymous SNV V156A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.002 108332 chr5 74016516 74016516 - A rs762172918 HEXB Frameshift insertion R520Kfs*5 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 108333 chr6 26413533 26413533 C T rs771363551 BTN3A1 Synonymous SNV L333L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.852 108334 chr6 33647739 33647739 C T rs142408977 ITPR3 Synonymous SNV A1351A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 108335 chr7 21469640 21469640 C G rs150133134 SP4 Nonsynonymous SNV P269R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.88 108336 chr7 21640784 21640784 T C rs200099996 DNAH11 Nonsynonymous SNV F1138L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.5 108337 chr4 628612 628612 C T rs149293844 PDE6B Synonymous SNV D205D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.2 108338 chr6 35922961 35922961 C T rs138344479 SLC26A8 Nonsynonymous SNV V629M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 27.2 108339 chr6 44371651 44371651 - T CDC5L Stop gain E217* 0.001 0 0 0 1 0 0 0 0 0 0 0 108340 chr13 96540168 96540168 G A rs141853446 UGGT2 Nonsynonymous SNV L1006F 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 25.3 108341 chr7 24742437 24742437 G A rs71535705 GSDME Nonsynonymous SNV A236V 0.01 0.016 0.003 6 12 6 0.015 1 0 0 0 0 Benign 15.56 108342 chr13 99449489 99449489 G A rs41279128 DOCK9 Synonymous SNV C1981C 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 Benign 10.51 108343 chr6 656623 656623 G A HUS1B Nonsynonymous SNV R108C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 108344 chr7 2579268 2579268 G A rs147745609 BRAT1 Nonsynonymous SNV P328S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.643 108345 chr14 100848059 100848059 C T rs771740816 WDR25 Synonymous SNV S266S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 108346 chr5 80555035 80555035 C T rs760692241 CKMT2 Stop gain R326X 0.002 0.008 0 0 2 3 0 0 0 0 0 0 42 108347 chr6 49753882 49753882 A G rs201535868 PGK2 Nonsynonymous SNV L340S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.11 108348 chr14 101348623 101348623 G A rs537765084 RTL1 Nonsynonymous SNV R835W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 108349 chr5 82816359 82816359 A C rs144502710 VCAN Nonsynonymous SNV K745T 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Likely benign 0.081 108350 chr6 36699789 36699789 G A rs564746826 RAB44 Synonymous SNV R995R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.42 108351 chr14 102916172 102916172 G A rs199835341 TECPR2 Synonymous SNV K1094K 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 14.12 108352 chr6 38897352 38897352 C G rs114401631 DNAH8 Synonymous SNV P3511P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 11.39 108353 chr6 7542253 7542253 G A rs77445784 DSP Synonymous SNV G35G 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Benign/Likely benign 13.11 108354 chr4 755072 755072 C T rs35251658 PCGF3 Synonymous SNV S156S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 15.06 108355 chr6 42985360 42985360 C T rs144375129 KLHDC3 Synonymous SNV D86D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 108356 chr6 55039416 55039416 C A rs41271312 HCRTR2 Nonsynonymous SNV P11T 0.01 0.013 0 4 12 5 0.01 0 0 0 0 0 15.72 108357 chr6 56462690 56462690 T A rs201249286 DST Nonsynonymous SNV I1392F 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Uncertain significance 9.375 108358 chr6 41533534 41533534 G A rs769276715 FOXP4 Synonymous SNV S12S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.91 108359 chr6 41738556 41738556 C T rs755660918 FRS3 Nonsynonymous SNV G427E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 108360 chr14 105453143 105453143 C G rs571618463 CLBA1 Nonsynonymous SNV C125W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.64 108361 chr6 46690550 46690550 T C rs776730517 PLA2G7 Nonsynonymous SNV I27V 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.048 108362 chr6 71567876 71567876 C T rs747142843 SMAP1 Nonsynonymous SNV P378S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 108363 chr4 79500235 79500235 G A rs146728751 ANXA3 Nonsynonymous SNV R53Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 27.6 108364 chr14 105859018 105859018 C T rs587631980 PACS2 Nonsynonymous SNV A683V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 108365 chr7 39990636 39990636 C T CDK13 Synonymous SNV G132G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 108366 chr6 97533208 97533208 G A rs142854913 KLHL32 Synonymous SNV Q137Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.997 108367 chr6 109274354 109274354 C T rs371652575 ARMC2 Nonsynonymous SNV T407M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.55 108368 chr6 43170521 43170521 G T rs766005084 CUL9 Nonsynonymous SNV G1239C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 108369 chr6 109748122 109748122 G A rs200190838 PPIL6 Nonsynonymous SNV R155C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 108370 chr6 90460107 90460107 C T rs116023976 MDN1 Synonymous SNV T1124T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 108371 chr14 20612223 20612223 G A OR4N5 Nonsynonymous SNV G110E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 108372 chr6 90718577 90718577 - GAAAGAAAGAAA rs763281917 BACH2 0.001 0 0 0 1 0 0 0 0 0 0 0 108373 chr4 8237172 8237172 G A rs759732513 SH3TC1 Nonsynonymous SNV V1023M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 108374 chr6 110714090 110714090 C G rs144506389 DDO Nonsynonymous SNV G192A 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 108375 chr5 148682001 148682001 G A rs374210621 AFAP1L1 Synonymous SNV P116P 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 9.382 108376 chr6 51923291 51923291 C G rs149781976 PKHD1 Nonsynonymous SNV G448R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17 108377 chr4 87694039 87694039 T C rs144970861 PTPN13 Synonymous SNV S1568S 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 1.477 108378 chr4 87731008 87731008 T C rs140778130 PTPN13 Synonymous SNV T2199T 0.008 0.008 0.014 3 9 3 0.008 4 0 0 0 0 4.59 108379 chr4 88035634 88035634 A G AFF1 Nonsynonymous SNV E181G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 108380 chr6 42559926 42559926 G A rs62414610 UBR2 Nonsynonymous SNV E126K 0.03 0.01 0.024 8 35 4 0.021 7 0 0 0 0 22.3 108381 chr6 86284095 86284095 A G rs767083563 SNX14 Nonsynonymous SNV Y48H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.3 108382 chr6 49754227 49754227 T C rs186743372 PGK2 Nonsynonymous SNV K225R 0.003 0 0 0 4 0 0 0 0 0 0 0 12.31 108383 chr4 949246 949246 C T rs149676848 TMEM175 Synonymous SNV T145T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 10.24 108384 chr6 51732861 51732861 T C rs200679577 PKHD1 Synonymous SNV S2511S 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.033 108385 chr6 127771473 127771473 T G rs189939578 KIAA0408 Synonymous SNV R54R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.086 108386 chr6 131574209 131574209 C T rs760797233 AKAP7 Stop gain Q28X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.1 108387 chr14 23896915 23896915 G A rs3729816 MYH7 Synonymous SNV N589N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.304 108388 chr7 64169017 64169017 - A rs375319415 ZNF107 Frameshift insertion Y817Vfs*54 0.012 0.016 0.01 3 14 6 0.008 3 0 0 1 0 108389 chr6 47649210 47649210 T A ADGRF2 Nonsynonymous SNV N305K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.3 108390 chr14 24000785 24000785 C T rs148020870 ZFHX2 Nonsynonymous SNV R902H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 108391 chr14 24408879 24408879 A G rs72692108 DHRS4-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 108392 chr6 66115146 66115146 C T rs112822256 EYS Nonsynonymous SNV S326N 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.36 108393 chr5 167675141 167675141 T C rs200697560 TENM2 Synonymous SNV Y2160Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.009 108394 chr6 8064586 8064586 G A rs144221198 BLOC1S5 Synonymous SNV T8T 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 13.97 108395 chr14 24807198 24807198 T C rs374696778 RIPK3 Nonsynonymous SNV N238S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 108396 chr7 100607797 100607797 C T rs199794409 MUC3A Synonymous SNV S1258S 0.013 0.008 0.007 4 15 3 0.01 2 0 0 0 0 10.34 108397 chr6 144093551 144093551 C T rs369058248 PHACTR2 Synonymous SNV T383T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.7 108398 chr7 73511484 73511484 C T LIMK1 Synonymous SNV D88D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 108399 chr6 74528179 74528179 C T rs765315736 CD109 Nonsynonymous SNV P1250L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 108400 chr6 147047240 147047240 C T rs773614365 ADGB Synonymous SNV N753N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.973 108401 chr5 172660347 172660347 C T NKX2-5 Synonymous SNV X152X 0.003 0.008 0 6 4 3 0.015 0 0 0 0 0 16.33 108402 chr6 150111116 150111116 T G rs148018752 PCMT1 Nonsynonymous SNV F96L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.25 108403 chr5 176314036 176314036 G A rs144964139 HK3 Synonymous SNV F608F 0.006 0 0 1 7 0 0.003 0 0 0 0 0 10.88 108404 chr6 96053921 96053921 A G rs533843112 MANEA Synonymous SNV L343L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.676 108405 chr14 38064109 38064109 C G rs139801655 FOXA1 Nonsynonymous SNV Q23H 0.002 0.003 0.017 1 2 1 0.003 5 0 0 0 0 24.4 108406 chr6 7910873 7910873 - CCG TXNDC5 A46_D47insA 0.001 0 0 0 1 0 0 0 0 0 0 0 108407 chr14 38261599 38261599 C T rs751919428 TTC6 Nonsynonymous SNV R1246W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.2 108408 chr7 107434853 107434853 T C SLC26A3 Synonymous SNV T34T 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 3.293 108409 chr5 176520503 176520503 G C FGFR4, FGFR4 Nonsynonymous SNV V410L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 13.55 108410 chr7 100679578 100679578 T A rs189501078 MUC17 Nonsynonymous SNV S1627R 0.003 0 0 0 4 0 0 0 0 0 0 0 1.543 108411 chr6 83847339 83847339 C T rs200175557 DOP1A Nonsynonymous SNV T1184M 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.004 108412 chr7 102098353 102098353 G A rs752798925 ALKBH4 Nonsynonymous SNV R133W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 108413 chr7 100491451 100491451 G C rs17885778 ACHE Nonsynonymous SNV P135A 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Likely benign 24.1 108414 chr14 47770687 47770687 T A MDGA2 Nonsynonymous SNV E47V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 108415 chr7 82784588 82784588 C T rs144574814 PCLO Nonsynonymous SNV G457R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 13.87 108416 chr5 132101194 132101194 A G SEPTIN8 Nonsynonymous SNV S20P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.79 108417 chr7 87190668 87190668 C T rs28381867 ABCB1 Synonymous SNV A246A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.49 108418 chr7 123599912 123599912 G A rs747951663 SPAM1 Nonsynonymous SNV M473I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.026 108419 chr7 126882944 126882944 C T rs764035146 GRM8 Synonymous SNV T105T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.692 108420 chr5 179290483 179290483 C T rs151265651 TBC1D9B Nonsynonymous SNV A1223T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.1 108421 chr14 52495539 52495539 G A rs142228436 NID2 Nonsynonymous SNV R811C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 108422 chr6 76713589 76713589 A G rs199644430 IMPG1 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 108423 chr7 89983856 89983856 A C rs779537008 GTPBP10 Nonsynonymous SNV K104N 0.002 0 0 0 2 0 0 0 0 0 0 0 7.661 108424 chr14 52734696 52734696 G A rs141831512 PTGDR Nonsynonymous SNV R55H 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 19.79 108425 chr5 180278027 180278027 A G rs142442586 ZFP62 Synonymous SNV L156L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.121 108426 chr6 84108085 84108085 C T rs78734745 ME1 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 28.4 108427 chr7 92130962 92130962 G A rs145430946 PEX1 Synonymous SNV F757F 0.011 0.003 0.003 1 13 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.65 108428 chr7 117066978 117066978 C T rs117446983 ASZ1 Synonymous SNV R39R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Benign 9.087 108429 chr7 92926077 92926077 C G rs200434482 VPS50 Synonymous SNV T397T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.3 108430 chr14 55903436 55903436 A G rs1009408901 TBPL2 Synonymous SNV L151L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 108431 chr7 134730642 134730642 T C rs530598926 AGBL3 Synonymous SNV I108I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.948 108432 chr6 1611786 1611786 - CAGCGCGGG FOXC1 S373_S374insAGS 0.002 0.005 0 0 2 2 0 0 0 0 0 0 108433 chr7 99686638 99686638 - CAGCTA COPS6 T11_N12insAT 0.002 0 0 0 2 0 0 0 0 0 0 0 108434 chr7 138556016 138556016 G A rs751853285 KIAA1549 Nonsynonymous SNV R1480W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 108435 chr7 1097841 1097841 G A rs61976951 GPR146 Synonymous SNV S230S 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 11.18 108436 chr14 63269189 63269189 G T rs114074278 KCNH5 Synonymous SNV R560R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 9.009 108437 chr7 129095194 129095194 G T rs142679514 STRIP2 Synonymous SNV L272L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.758 108438 chr6 167728900 167728900 T C rs752323292 UNC93A Nonsynonymous SNV V403A 0.008 0.016 0.024 5 9 6 0.013 7 0 0 0 0 0.004 108439 chr6 167728901 167728901 C G rs762682220 UNC93A Synonymous SNV V403V 0.007 0.016 0.02 5 8 6 0.013 6 0 0 0 0 2.969 108440 chr5 39377132 39377132 G A rs700241 DAB2 Nonsynonymous SNV T565I 0.006 0.01 0.014 2 7 4 0.005 4 0 0 0 0 12.78 108441 chr14 69619555 69619555 C T rs144556740 DCAF5 Synonymous SNV K47K 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 15.01 108442 chr14 69701535 69701535 A C EXD2 Nonsynonymous SNV K154T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 108443 chr5 41382566 41382566 G A rs113849338 PLCXD3 Synonymous SNV V58V 0.01 0.008 0 5 12 3 0.013 0 1 0 0 0 5.245 108444 chr7 141736732 141736732 G A rs116034282 MGAM Nonsynonymous SNV R729H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 108445 chr14 71199365 71199365 C T rs376198640 MAP3K9 Synonymous SNV S640S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 108446 chr5 147012303 147012303 T C rs3763095 JAKMIP2 Synonymous SNV Q551Q 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 1.42 108447 chr7 141955070 141955070 C T rs149498236 PRSS58 Nonsynonymous SNV V81M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.68 108448 chr5 147261610 147261610 G A rs34212847 SCGB3A2 Synonymous SNV V93V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 11.02 108449 chr14 72128131 72128131 C T rs142619560 SIPA1L1 Synonymous SNV H734H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 11.43 108450 chr7 138524956 138524956 G T rs372228871 KIAA1549 Synonymous SNV I1840I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 5.624 108451 chr7 124481037 124481037 A G rs201869790 POT1 Synonymous SNV L322L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.492 108452 chr7 128449696 128449696 A G rs142055253 CCDC136 Nonsynonymous SNV K600E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 108453 chr7 102087163 102087163 C T rs34647773 ORAI2 Synonymous SNV H66H 0.02 0.023 0.02 12 23 9 0.031 6 0 0 0 0 10.42 108454 chr5 5464476 5464515 GTGCCTCCTGCCATGTCTCCATGGCCAGAGGACCCCAGAC - ICE1 P1679Lfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 108455 chr14 75590896 75590896 C T rs143597394 NEK9 Nonsynonymous SNV D84N 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Likely benign 22.3 108456 chr7 132193225 132193225 G A rs78248128 PLXNA4 Synonymous SNV S76S 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 4.971 108457 chr8 124453605 124453605 G A rs148930212 WDYHV1 Nonsynonymous SNV V130I 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 18.54 108458 chr7 103202322 103202322 T C RELN Synonymous SNV V1763V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.142 108459 chr7 104749504 104749504 A G rs145923995 KMT2E Nonsynonymous SNV N1195S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 0.001 108460 chr14 77319672 77319672 C T rs143651965 LRRC74A Synonymous SNV I309I 0 0 0.003 0 0 0 0 1 0 0 0 0 12 108461 chr7 1487323 1487323 G A rs144832180 MICALL2 Nonsynonymous SNV A138V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.272 108462 chr7 100647638 100647638 C T rs12534950 MUC12 Synonymous SNV L4598L 0.008 0.016 0.048 7 9 6 0.018 14 3 3 7 3 10.88 108463 chr14 77843368 77843368 G T rs182573253 TMED8 Nonsynonymous SNV P10Q 0.004 0.008 0.003 1 5 3 0.003 1 1 0 0 0 20.8 108464 chr5 60214170 60214170 C T ERCC8 Stop gain W107X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 108465 chr7 108213362 108213362 T C rs61749954 DNAJB9 Synonymous SNV D79D 0.02 0.005 0.01 5 23 2 0.013 3 0 0 0 0 0.163 108466 chr5 63509810 63509810 C T rs148816984 RNF180 Synonymous SNV C219C 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 8.103 108467 chr7 101821817 101821817 C T rs542765617 CUX1 Synonymous SNV I294I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.67 108468 chr7 112124984 112124984 C T rs200241326 LSMEM1 Nonsynonymous SNV S38L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.5 108469 chr14 79269965 79269965 G A rs773794592 NRXN3 Nonsynonymous SNV A310T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 108470 chr7 139801835 139801835 A G rs759859549 KDM7A Synonymous SNV N518N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.352 108471 chr7 116918235 116918235 T C rs111269299 WNT2 Nonsynonymous SNV N353D 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 17.84 108472 chr14 88936027 88936027 C T rs116844740 PTPN21 Synonymous SNV R1017R 0.003 0 0.014 2 4 0 0.005 4 0 0 0 0 16.57 108473 chr14 88945988 88945988 G A PTPN21 Nonsynonymous SNV T596M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 108474 chr7 140395554 140395554 - T rs531525847 NDUFB2-AS1 0.037 0.026 0.065 20 43 10 0.051 19 1 0 1 1 108475 chr14 89171882 89171882 C T rs780062598 EML5 Nonsynonymous SNV V626I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 108476 chr7 123256437 123256437 G A rs61741418 ASB15 Synonymous SNV Q60Q 0.005 0 0.007 4 6 0 0.01 2 0 0 0 0 8.688 108477 chr14 92900256 92900256 C T rs139559738 SLC24A4 Nonsynonymous SNV A81V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 33 108478 chr7 116339956 116339956 C G rs368144654 MET Nonsynonymous SNV T273S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 15.05 108479 chr7 149516950 149516950 G A rs370075561 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 108480 chr7 154875972 154875972 C T rs113935396 HTR5A Synonymous SNV A283A 0.014 0.01 0.003 4 16 4 0.01 1 0 1 0 0 Benign 11.18 108481 chr7 117375071 117375071 C T rs1047966732 CTTNBP2 Nonsynonymous SNV D1240N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 108482 chr8 142188178 142188178 G A rs143037379 DENND3 Nonsynonymous SNV V907I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.443 108483 chr8 142204229 142204229 C T rs61743929 DENND3 Nonsynonymous SNV A1245V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 108484 chr7 1784997 1784997 C T rs575919541 ELFN1 Synonymous SNV Y255Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.106 108485 chr5 75906930 75906930 G A rs777301481 IQGAP2 Synonymous SNV A34A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.188 108486 chr7 150731425 150731425 C T rs145353836 ABCB8 Synonymous SNV V70V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.15 108487 chr14 95934175 95934175 C A rs35481769 SYNE3 Nonsynonymous SNV A92S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 16.05 108488 chr7 127669499 127669499 G A rs148125780 LRRC4 Nonsynonymous SNV P399S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.719 108489 chr7 127670664 127670664 G A rs779492619 LRRC4 Synonymous SNV H10H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.104 108490 chr7 149494369 149494369 C T rs191304546 SSPO 0.002 0.01 0.003 2 2 4 0.005 1 0 0 0 0 7.335 108491 chr7 103191732 103191732 G A rs114019779 RELN Synonymous SNV G2028G 0.014 0.01 0.017 2 16 4 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 1.123 108492 chr7 149529962 149529962 G A rs144954860 SSPO 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 15.74 108493 chr7 149541819 149541819 C T ZNF862 Nonsynonymous SNV P44S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.88 108494 chr7 128493382 128493382 C T rs117360467 FLNC-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 7.099 108495 chr7 134632314 134632314 G A rs35067327 CALD1 Nonsynonymous SNV V269M 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 17.6 108496 chr7 151791436 151791436 G A rs148858219 GALNT11 Nonsynonymous SNV V42I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.329 108497 chr7 128845555 128845555 G A rs45445295 SMO Synonymous SNV Q284Q 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 10.94 108498 chr7 129103963 129103963 G A rs748927719 STRIP2 Nonsynonymous SNV V544I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.1 108499 chr8 144659530 144659530 T A NAPRT Synonymous SNV A159A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 108500 chr7 129948221 129948221 G A rs145012020 CPA4 Stop gain W226X 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 42 108501 chr15 100890384 100890384 C A rs4965643 SPATA41 0 0 0.031 0 0 0 0 9 0 0 1 0 9.104 108502 chr15 101094072 101094075 CACA - rs764249245 PRKXP1 0 0 0.044 0 0 0 0 13 0 0 5 0 108503 chr8 144803494 144803494 G C rs140439631 MAPK15 Nonsynonymous SNV A373P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 108504 chr8 144810584 144810584 G A rs553257881 FAM83H Synonymous SNV H349H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.332 108505 chr7 2552885 2552885 - GATGGATG LFNG Frameshift insertion E56Gfs*144 0 0.003 0 0 0 1 0 0 0 0 0 0 108506 chr15 101433255 101433255 C T rs199635593 LOC101927751 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.732 108507 chr5 80689853 80689853 G A rs143599174 ACOT12 Synonymous SNV S27S 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 15.5 108508 chr7 150746066 150746066 G A rs146916223 ASIC3 Nonsynonymous SNV V32I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.202 108509 chr7 150746189 150746189 C A rs62001892 ASIC3 Nonsynonymous SNV Q73K 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 15.68 108510 chr7 158557498 158557498 T A rs374804787 ESYT2 Nonsynonymous SNV K324I 0.002 0 0 0 2 0 0 0 0 0 0 0 32 108511 chr8 145107490 145107490 C T rs28428956 OPLAH Synonymous SNV A1055A 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 13.02 108512 chr7 26686225 26686225 G A rs140459018 LINC02860 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 6.14 108513 chr8 145113903 145113903 C G rs111254751 OPLAH Nonsynonymous SNV G148A 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 0.005 108514 chr8 145139325 145139325 G C rs112703109 GPAA1 Nonsynonymous SNV E275Q 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 3.005 108515 chr8 145153851 145153851 C T rs112552278 SHARPIN Nonsynonymous SNV R365H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 34 108516 chr7 27194613 27194613 G A rs750517268 HOXA7 Nonsynonymous SNV A203V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 4.235 108517 chr15 25468221 25468221 G A rs138842015 SNHG14 0 0 0.014 0 0 0 0 4 0 0 1 0 3.441 108518 chr7 123302930 123302930 T C rs757010236 LMOD2 Synonymous SNV P430P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 108519 chr7 155596086 155596086 C G rs9333635 SHH Synonymous SNV L299L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.021 108520 chr6 100061120 100061120 C T rs183537963 PRDM13 Synonymous SNV S203S 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 7.61 108521 chr7 2577961 2577961 C A rs61753093 BRAT1 Synonymous SNV L561L 0.004 0.01 0.007 2 5 4 0.005 2 0 0 0 0 Benign 8.147 108522 chr7 148701179 148701179 C T rs142233058 PDIA4 Nonsynonymous SNV E550K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 33 108523 chr7 142749795 142749795 C T rs368094301 OR6V1 Nonsynonymous SNV R120C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 108524 chr7 149463040 149463040 C G rs757971687 ZNF467 Nonsynonymous SNV G184A 0.007 0.003 0 0 8 1 0 0 1 0 0 0 24.4 108525 chr7 143047546 143047546 G A CLCN1 Nonsynonymous SNV V829M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 108526 chr6 10709632 10709632 G A rs72821574 PAK1IP1 Nonsynonymous SNV V376I 0.008 0.01 0.003 5 9 4 0.013 1 0 0 0 1 9.211 108527 chr5 32415268 32415268 C A ZFR Nonsynonymous SNV G197V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 108528 chr7 23809303 23809303 A G rs55860134 STK31 Synonymous SNV A524A 0.012 0.008 0.007 5 14 3 0.013 2 0 0 0 0 0.389 108529 chr7 150104778 150104778 G T rs906825098 LOC728743 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 108530 chr8 1951038 1951038 C T KBTBD11 Synonymous SNV G560G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 108531 chr8 20005122 20005122 A G rs145583291 SLC18A1 Nonsynonymous SNV F409S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 108532 chr6 112400936 112400936 G A TUBE1 Synonymous SNV F116F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.64 108533 chr8 20072412 20072412 C T rs550598553 ATP6V1B2 Synonymous SNV R337R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.13 108534 chr7 45747949 45747949 G A rs45444695 ADCY1 Nonsynonymous SNV A940T 0.02 0.021 0.017 4 23 8 0.01 5 0 0 0 0 Benign 22.4 108535 chr8 22136913 22136913 G A rs76073263 PIWIL2 Nonsynonymous SNV R5Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 108536 chr7 150325372 150325372 G A rs62000976 GIMAP6 Nonsynonymous SNV S175L 0.009 0.003 0.01 7 10 1 0.018 3 0 0 0 1 0.276 108537 chr15 42743933 42743933 - CCA ZNF106 G156_P157insG 0 0 0.003 0 0 0 0 1 0 0 0 0 108538 chr7 4871777 4871777 C T rs201386838 RADIL Synonymous SNV A483A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.55 108539 chr7 141464810 141464810 C T rs76494765 TAS2R3 Synonymous SNV L284L 0.021 0.021 0.003 3 25 8 0.008 1 1 0 0 0 9.512 108540 chr15 45456066 45456066 C T rs760597809 DUOX1 Nonsynonymous SNV R1495C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 108541 chr7 151877916 151877916 G A rs148341170 KMT2C Synonymous SNV H2343H 0.005 0 0 5 6 0 0.013 0 0 0 0 1 0.002 108542 chr6 70070997 70070997 C A rs61740387 ADGRB3 Synonymous SNV R1278R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.93 108543 chr8 24256052 24256052 C T rs2291576 ADAMDEC1 Synonymous SNV N171N 0.021 0.005 0.017 8 25 2 0.021 5 1 0 0 0 10.91 108544 chr15 45706945 45706945 G A rs144932696 SPATA5L1 Synonymous SNV P537P 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 12.1 108545 chr7 51287542 51287542 C T rs115321263 COBL Synonymous SNV S47S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 11.72 108546 chr7 16502531 16502531 T C rs375054577 SOSTDC1 Nonsynonymous SNV Q88R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 108547 chr5 55201942 55201942 T C IL31RA Nonsynonymous SNV C341R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.496 108548 chr7 21629018 21629018 A G rs191266255 DNAH11 Synonymous SNV P722P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.518 108549 chr7 20199780 20199780 C A rs140929570 MACC1 Nonsynonymous SNV W68C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 108550 chr7 150027645 150027645 G T rs772150075 ZBED6CL Nonsynonymous SNV G51V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.4 108551 chr7 2274955 2274955 G T rs751283850 MRM2 Synonymous SNV T181T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.809 108552 chr7 4839923 4839923 G A rs202055380 RADIL Nonsynonymous SNV A954V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 108553 chr6 88228584 88228584 T C rs767004280 RARS2 Synonymous SNV Q246Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.135 108554 chr7 73949457 73949457 G A rs369252514 GTF2IRD1 Nonsynonymous SNV R462Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 108555 chr8 35608103 35608103 G T UNC5D Nonsynonymous SNV V642L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 108556 chr7 24888730 24888730 G A rs61756142 OSBPL3 Synonymous SNV L377L 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 13.68 108557 chr5 71756896 71756896 T C rs143061545 ZNF366 Nonsynonymous SNV E143G 0.022 0.008 0.02 7 26 3 0.018 6 0 0 0 0 23.2 108558 chr6 148841067 148841067 G A rs201532000 SASH1 Nonsynonymous SNV R177H 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 18.23 108559 chr6 90340444 90340444 A G rs202181739 ANKRD6 Synonymous SNV Q571Q 0.003 0 0 0 3 0 0 0 0 0 0 0 2.832 108560 chr8 37732593 37732593 C T rs760858464 RAB11FIP1 Synonymous SNV L354L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.844 108561 chr8 37734990 37734990 T G rs202070173 RAB11FIP1 Nonsynonymous SNV N151H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 108562 chr15 65134221 65134221 G T rs201633413 PLEKHO2 Nonsynonymous SNV E2D 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 22.9 108563 chr15 65295495 65295495 G T MTFMT Nonsynonymous SNV Q359K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.24 108564 chr15 65321780 65321780 A T rs188718836 MTFMT Nonsynonymous SNV F58I 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 Likely benign 25.3 108565 chr6 91254332 91254332 C T MAP3K7 Synonymous SNV R410R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.21 108566 chr8 38899588 38899588 T C ADAM9 Synonymous SNV G418G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.783 108567 chr7 27185447 27185447 G A HOXA6 Nonsynonymous SNV R178C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 108568 chr5 75913784 75913784 T C rs2069683 F2RL2 Nonsynonymous SNV N228D 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 0.002 108569 chr7 2802291 2802291 T C rs10487576 GNA12 Nonsynonymous SNV I78V 0.018 0.023 0.034 3 21 9 0.008 10 0 0 0 0 3.189 108570 chr7 5428406 5428406 G A TNRC18 Nonsynonymous SNV A350V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.3 108571 chr7 81714095 81714095 T A CACNA2D1 Synonymous SNV R216R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.77 108572 chr7 2834577 2834577 T C rs2230878 GNA12 Synonymous SNV R170R 0.018 0.023 0.034 3 21 9 0.008 10 0 0 0 0 0.063 108573 chr7 2834754 2834754 T C rs2230877 GNA12 Synonymous SNV A111A 0.018 0.023 0.034 3 21 9 0.008 10 0 0 0 0 0.208 108574 chr7 82457210 82457210 A G rs200374566 PCLO Synonymous SNV Y4774Y 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 5.566 108575 chr7 5434181 5434181 G A rs774043487 TNRC18 Nonsynonymous SNV S78L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.9 108576 chr15 66791923 66791923 G A RPL4 Nonsynonymous SNV A369V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 108577 chr7 100320290 100320290 G A rs137953994 EPO Nonsynonymous SNV G84R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.46 108578 chr7 156976600 156976600 G A rs748427123 UBE3C Synonymous SNV V340V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.77 108579 chr8 61741262 61741262 C G CHD7 Nonsynonymous SNV T1140S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 108580 chr6 157431662 157431662 G A rs147784000 ARID1B Nonsynonymous SNV A17T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.9 108581 chr8 61763863 61763863 G C CHD7 Nonsynonymous SNV E1884Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.05 108582 chr8 62563658 62563658 T G rs151310807 ASPH Synonymous SNV A118A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 5.15 108583 chr6 158517162 158517162 T C rs41269571 SYNJ2 Synonymous SNV L1182L 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.495 108584 chr15 72511415 72511415 G A rs3759901 PKM Nonsynonymous SNV P24L 0.01 0.008 0.014 2 12 3 0.005 4 0 0 0 0 17.35 108585 chr7 44179148 44179148 G A rs760067597 MYL7 Nonsynonymous SNV T133I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 108586 chr7 44798937 44798937 T A rs772393255 ZMIZ2 Nonsynonymous SNV F291I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 108587 chr15 74284558 74284558 C G rs747932881 STOML1 Nonsynonymous SNV G3R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 108588 chr7 93519467 93519467 C T rs35683413 TFPI2 Nonsynonymous SNV A74T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 18.12 108589 chr7 73456970 73456970 T C rs140411170 ELN Nonsynonymous SNV F77L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 17.55 108590 chr7 94048862 94048862 G A rs34147460 COL1A2 Nonsynonymous SNV R693Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 25.8 108591 chr8 77766241 77766241 A C rs754819020 ZFHX4 Nonsynonymous SNV K2362Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 108592 chr7 97822518 97822518 T G rs151098642 LMTK2 Nonsynonymous SNV V914G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.707 108593 chr15 77310807 77310807 G A rs34618738 PSTPIP1 Synonymous SNV A49A 0.006 0.013 0.003 5 7 5 0.013 1 0 0 0 0 Benign/Likely benign 13 108594 chr15 77328255 77328255 G A rs35538044 PSTPIP1 Synonymous SNV A347A 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 Benign/Likely benign 7.434 108595 chr7 7613239 7613239 C T MIOS Nonsynonymous SNV T378M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 108596 chr7 99630948 99630948 A G rs143925671 ZKSCAN1 Nonsynonymous SNV N61D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.816 108597 chr6 162206838 162206838 G A rs149433924 PRKN Synonymous SNV H130H 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Likely benign 4.611 108598 chr7 99696308 99696308 T C rs145784812 MCM7 Nonsynonymous SNV M29V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.84 108599 chr8 101243482 101243482 A T rs143621160 SPAG1 Nonsynonymous SNV I652F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.6 108600 chr8 95399369 95399369 T G rs114436457 RAD54B Nonsynonymous SNV T426P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.09 108601 chr8 95878387 95878387 A C rs150502842 INTS8 Nonsynonymous SNV S755R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 108602 chr8 9592392 9592392 T C rs61752022 TNKS Synonymous SNV T777T 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Benign 9.04 108603 chr8 97299350 97299350 C T rs73698560 PTDSS1 Synonymous SNV Y139Y 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 13.47 108604 chr5 98228403 98228403 T A rs61759467 CHD1 Nonsynonymous SNV E669V 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 Benign 32 108605 chr9 100112727 100112727 G T CCDC180 Nonsynonymous SNV L1008F 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 108606 chr6 107361108 107361108 C T rs41313442 MTRES1 Synonymous SNV T48T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 8.178 108607 chr8 105235958 105235958 G A rs115168750 RIMS2 Nonsynonymous SNV A27T 0.012 0.016 0.003 8 14 6 0.021 1 0 0 0 0 20.9 108608 chr7 56084927 56084927 C T rs534946771 PSPH Nonsynonymous SNV G141S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 108609 chr7 94539540 94539540 T A rs113253337 PPP1R9A Nonsynonymous SNV S39T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 4.568 108610 chr15 86800165 86800165 C G rs200765292 AGBL1 Nonsynonymous SNV L273V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.3 108611 chr7 99627989 99627989 T C rs1003397734 ZKSCAN1 Nonsynonymous SNV F51L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.982 108612 chr7 95820500 95820500 C T rs78247004 SLC25A13 Synonymous SNV S225S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 14.27 108613 chr9 107331929 107331929 G A OR13C8 Nonsynonymous SNV A161T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.517 108614 chr7 100818028 100818028 T C rs555118087 NAT16 Nonsynonymous SNV T21A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 108615 chr7 6541678 6541678 G C GRID2IP Nonsynonymous SNV H1074Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 108616 chr15 89389050 89389050 T C rs181736584 ACAN Nonsynonymous SNV F456L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Likely benign 23.1 108617 chr6 116325108 116325108 G A rs34064900 FRK Nonsynonymous SNV S133L 0.014 0.018 0.007 5 16 7 0.013 2 0 0 0 0 22.9 108618 chr8 11615887 11615887 C T rs55633527 GATA4 Nonsynonymous SNV A412V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.774 108619 chr6 26463621 26463621 A G rs142951857 BTN2A1 Nonsynonymous SNV M133V 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 0.002 108620 chr8 120429190 120429190 C A rs17856478 CCN3 Nonsynonymous SNV N97K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 12.52 108621 chr6 28251987 28251987 G T PGBD1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 108622 chr6 118886803 118886803 C A CEP85L Nonsynonymous SNV Q303H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 108623 chr8 121530218 121530218 G T MTBP Nonsynonymous SNV V792F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.449 108624 chr6 31113239 31113239 C G rs147733073 CCHCR1 Nonsynonymous SNV Q539H 0.002 0 0 0 2 0 0 0 1 0 0 0 26.3 108625 chr15 90611599 90611599 C T rs55983968 ZNF710 Synonymous SNV V410V 0.003 0.005 0.014 0 3 2 0 4 1 0 0 0 12.01 108626 chr8 104922734 104922734 G A rs377485905 RIMS2 Nonsynonymous SNV E412K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.17 108627 chr8 10470381 10470381 C T rs201081190 RP1L1 Synonymous SNV T409T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.5 108628 chr8 105459627 105459627 G A rs143825702 DPYS Synonymous SNV Y176Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.695 108629 chr7 76982314 76982315 TC - GSAP E264Dfs*3 0.005 0 0 3 6 0 0.008 0 0 0 0 0 108630 chr6 34802024 34802024 A G rs768498215 UHRF1BP1 Synonymous SNV E123E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 4.757 108631 chr7 77824190 77824190 C T rs780296419 MAGI2 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 108632 chr7 79828573 79828573 A G rs6970347 GNAI1 Synonymous SNV G60G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.75 108633 chr6 127767595 127767595 - C rs756183532 KIAA0408 Frameshift insertion Q624Tfs*32 0.001 0 0.003 0 1 0 0 1 0 0 0 0 108634 chr15 93339357 93339357 C T rs7181825 ASB9P1 0 0 0.014 0 0 0 0 4 0 0 0 0 1.437 108635 chr6 35706161 35706161 G A rs766878769 ARMC12 Nonsynonymous SNV A104T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.7 108636 chr6 36652151 36652151 A T rs143676546 CDKN1A Synonymous SNV G91G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.075 108637 chr15 97940925 97940925 G C rs7166971 LINC02254 0 0 0.112 0 0 0 0 33 0 0 0 0 1.606 108638 chr15 98512376 98512376 G A rs61739632 ARRDC4 Nonsynonymous SNV E217K 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 26.4 108639 chr8 11405584 11405584 T A rs771224606 BLK Nonsynonymous SNV N2K 0.003 0 0 0 4 0 0 0 0 0 0 0 10.22 108640 chr7 126249446 126249446 G A rs769198 GRM8 Synonymous SNV I283I 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 13.26 108641 chr6 36839543 36839543 G A rs115690696 PPIL1 Synonymous SNV H54H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.228 108642 chr6 36922621 36922621 A G rs144573705 PI16 Nonsynonymous SNV T29A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 18.32 108643 chr8 133900341 133900341 C T TG Synonymous SNV C763C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.967 108644 chr8 124382173 124382173 A T rs200543112 ATAD2 Nonsynonymous SNV D273E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.031 108645 chr8 133961087 133961087 A G rs765236212 TG Nonsynonymous SNV D1767G 0 0.005 0 3 0 2 0.008 0 0 0 0 0 0.063 108646 chr6 3751655 3751657 CTC - PXDC1 E37del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 108647 chr7 128370026 128370026 C T rs115549300 FAM71F1 Synonymous SNV Y306Y 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 5.746 108648 chr8 134225217 134225217 C A rs138500919 CCN4 Synonymous SNV P60P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 15.22 108649 chr9 117848906 117848906 G A rs201505515 TNC Synonymous SNV A368A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.825 108650 chr6 39082831 39082831 C T rs148721599 SAYSD1 Nonsynonymous SNV R12Q 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 28.4 108651 chr6 39158816 39158816 C T rs144503200 KCNK5 Synonymous SNV Q450Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.169 108652 chr6 13305379 13305379 A G TBC1D7, TBC1D7-LOC100130357 Nonsynonymous SNV I252T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 108653 chr9 119382639 119382639 G A rs143407265 ASTN2 Synonymous SNV S104S 0.009 0.003 0.027 6 11 1 0.015 8 0 0 0 0 Benign 13.17 108654 chr6 135516886 135516886 A T rs369681525 MYB Nonsynonymous SNV T282S 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 6.222 108655 chr6 4070028 4070028 C T rs74983262 FAM217A Synonymous SNV L143L 0.019 0.013 0.027 9 22 5 0.023 8 0 0 0 1 4.124 108656 chr7 56022689 56022689 G A rs142912165 MRPS17 Nonsynonymous SNV V71I 0.008 0 0.01 1 9 0 0.003 3 0 0 0 0 24.8 108657 chr16 1256126 1256126 G A rs58173258 CACNA1H Nonsynonymous SNV A876T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 24.3 108658 chr16 1259406 1259406 G A rs58812334 CACNA1H Synonymous SNV S1246S 0.01 0.005 0.014 1 12 2 0.003 4 0 0 0 0 Benign 10.52 108659 chr16 1261258 1261258 C T rs60275734 CACNA1H Synonymous SNV C1438C 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 Benign 17.56 108660 chr7 97821453 97821453 G A LMTK2 Nonsynonymous SNV S559N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.5 108661 chr8 12863728 12863728 C T rs757484022 TRMT9B Nonsynonymous SNV A6V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 108662 chr16 14029282 14029282 T C rs373587423 ERCC4 Nonsynonymous SNV V498A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.284 108663 chr6 143095100 143095100 T C rs202020297 HIVEP2 Nonsynonymous SNV D259G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Likely benign 24.4 108664 chr6 144743061 144743061 A C UTRN Synonymous SNV G63G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.717 108665 chr7 99227515 99227515 C T ZSCAN25 Stop gain R503X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 38 108666 chr9 125437664 125437664 T G rs56304399 OR1L3 Nonsynonymous SNV L86V 0.003 0.01 0.014 0 4 4 0 4 0 0 0 0 17.39 108667 chr16 15698184 15698184 C T rs767088126 MARF1 Synonymous SNV Q1418Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.16 108668 chr8 144732794 144732794 T C rs763531108 ZNF623 Nonsynonymous SNV I251T 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 16.38 108669 chr8 100494031 100494031 G T rs764225649 VPS13B 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 25.8 108670 chr7 140125799 140125799 T C rs574686417 RAB19 Nonsynonymous SNV I168T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 108671 chr8 142264723 142264723 G C rs987571826 LOC105375787 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 108672 chr16 19195340 19195340 G A rs75241864 SYT17 Synonymous SNV L270L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.614 108673 chr9 127904932 127904932 C T rs201327064 SCAI Synonymous SNV P26P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 21.3 108674 chr9 130269689 130269689 T C rs561975739 NIBAN2 Nonsynonymous SNV Q546R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.1 108675 chr8 104897845 104897845 G A rs762927342 RIMS2 Nonsynonymous SNV A148T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 108676 chr8 144999810 144999810 C T rs782696637 PLEC Synonymous SNV S1415S 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 Likely benign 9.148 108677 chr8 105360994 105360994 C A rs61682032 DCSTAMP Nonsynonymous SNV L72M 0.003 0 0.007 0 3 0 0 2 0 0 0 0 24.1 108678 chr6 152688485 152688485 T C rs148679918 SYNE1 Synonymous SNV A3287A 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 1.884 108679 chr8 105361803 105361803 C T rs117086639 DCSTAMP Synonymous SNV H341H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.17 108680 chr8 105367370 105367370 C T rs77194116 DCSTAMP Nonsynonymous SNV P432L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.22 108681 chr8 10755798 10755798 C T rs61745501 XKR6 Synonymous SNV A530A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 108682 chr7 143771934 143771934 G A rs190418341 OR2A25 Nonsynonymous SNV G208R 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 20.6 108683 chr8 11163877 11163877 A C MTMR9 Nonsynonymous SNV H257P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.58 108684 chr9 131708277 131708277 T C DOLK Nonsynonymous SNV R436G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.206 108685 chr16 2229323 2229323 A C rs367616215 CASKIN1 Nonsynonymous SNV V1260G 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 2.542 108686 chr16 22319499 22319499 G C rs200525630 POLR3E Nonsynonymous SNV D4H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 108687 chr9 133540233 133540233 G A PRDM12 Nonsynonymous SNV A65T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 108688 chr16 24046867 24046867 C T rs540341676 PRKCB Synonymous SNV L176L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 108689 chr7 149489533 149489533 C T rs747961961 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 0.454 108690 chr8 144680675 144680675 C T TIGD5 Nonsynonymous SNV P201L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.277 108691 chr8 1575000 1575000 C A DLGAP2 Nonsynonymous SNV Q513K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 108692 chr8 121344406 121344406 G A rs202201394 COL14A1 Synonymous SNV S1562S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.132 108693 chr16 27457366 27457366 G A rs52822694 IL21R Nonsynonymous SNV R275Q 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.028 108694 chr6 56351952 56351952 C T rs187652380 DST Synonymous SNV L4376L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 13.71 108695 chr8 144877237 144877237 C T rs371451153 SCRIB Nonsynonymous SNV A1273T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 108696 chr8 124221723 124221723 T C rs80309164 FAM83A Nonsynonymous SNV L364P 0.023 0.016 0.031 4 27 6 0.01 9 0 0 0 0 2.606 108697 chr6 56918855 56918855 A G rs147271286 KIAA1586 Nonsynonymous SNV I493V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 108698 chr7 93055848 93055848 C T CALCR Synonymous SNV Q415Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 6.608 108699 chr8 124811866 124811866 G A FAM91A1 Nonsynonymous SNV R314K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 108700 chr16 2814420 2814420 A T SRRM2 Nonsynonymous SNV E1297D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.004 108701 chr6 64431498 64431498 G A rs144513453 EYS Nonsynonymous SNV T2810I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.32 108702 chr8 125052129 125052129 A G FER1L6 Nonsynonymous SNV H824R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 108703 chr8 125565295 125565295 G A rs752826920 MTSS1 Stop gain R671X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 108704 chr8 128750527 128750527 T C rs146505192 MYC Nonsynonymous SNV F21L 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 6.314 108705 chr7 150745974 150745974 T C rs143427620 ASIC3 Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 108706 chr16 29989216 29989216 C T rs56357942 TAOK2 Synonymous SNV A41A 0.002 0.005 0.017 4 2 2 0.01 5 0 0 0 0 13.75 108707 chr8 145618248 145618248 G T rs146471243 ADCK5 Nonsynonymous SNV V568L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.129 108708 chr7 150763621 150763621 C T rs199537782 SLC4A2 Nonsynonymous SNV A190V 0.003 0 0 0 3 0 0 0 0 0 0 0 17.56 108709 chr6 167754824 167754824 G A rs138482235 TTLL2 Nonsynonymous SNV R479H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.16 108710 chr8 145639345 145639345 C T rs141948792 SLC39A4 Synonymous SNV P403P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 17.1 108711 chr7 99725699 99725699 C T rs775230745 MBLAC1 Synonymous SNV V227V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.23 108712 chr16 30124707 30124707 C T rs201861157 GDPD3 Synonymous SNV T31T 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 10.81 108713 chr16 30671148 30671148 C T rs186108232 FBRS Synonymous SNV G103G 0.001 0.005 0.003 3 1 2 0.008 1 0 1 0 0 11.26 108714 chr7 151810377 151810377 T C rs145631984 GALNT11 Nonsynonymous SNV V295A 0.005 0 0 3 6 0 0.008 0 0 0 0 0 26.7 108715 chr7 151874751 151874751 C T rs149388680 KMT2C Nonsynonymous SNV R2596Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 108716 chr6 75844499 75844499 C T rs201408175 COL12A1 Nonsynonymous SNV V659I 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 Uncertain significance 24.8 108717 chr8 140898166 140898166 G A rs148805943 TRAPPC9 Synonymous SNV N995N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign/Likely benign 11.56 108718 chr6 83881694 83881694 G C rs141509908 PGM3 Nonsynonymous SNV L362V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 6.842 108719 chr8 141461333 141461333 C T rs147182402 TRAPPC9 Nonsynonymous SNV R47Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.7 108720 chr16 333193 333193 - CTG rs564559094 PDIA2 L14_R15insL 0.003 0 0.003 0 3 0 0 1 0 0 0 0 108721 chr8 141900770 141900770 C A PTK2 Nonsynonymous SNV G23C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 108722 chr16 3434791 3434791 C T rs368707453 ZSCAN32 Nonsynonymous SNV R12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 108723 chr8 10583476 10583476 G A rs113624178 SOX7 Synonymous SNV D313D 0.014 0.021 0.017 4 16 8 0.01 5 0 0 0 0 Benign 0.034 108724 chr8 142228118 142228118 C T rs747541953 SLC45A4 Nonsynonymous SNV D490N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.9 108725 chr8 1830837 1830837 A C ARHGEF10 Nonsynonymous SNV K295Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 108726 chr8 25317762 25317762 G A rs202000203 CDCA2 Nonsynonymous SNV A3T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.295 108727 chr7 20824140 20824140 C T rs369276986 SP8 Synonymous SNV K432K 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 11.34 108728 chr8 25702147 25702147 C T rs372867318 EBF2 Nonsynonymous SNV G569E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.5 108729 chr6 26157073 26157073 A G rs2298090 H1-4 Nonsynonymous SNV K152R 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 18.87 108730 chr8 194695 194695 C A rs148383942 ZNF596 Nonsynonymous SNV S100R 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 0.894 108731 chr8 20054928 20054928 G A rs116941637 ATP6V1B2 Nonsynonymous SNV R4Q 0.009 0.003 0.01 5 10 1 0.013 3 0 0 0 0 Benign 23.2 108732 chr9 139837807 139837807 A G rs147821001 FBXW5 Synonymous SNV T115T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.719 108733 chr8 2089092 2089092 G A rs139081548 MYOM2 Synonymous SNV Q1331Q 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 11.89 108734 chr8 21981218 21981218 C T rs117197822 HR Nonsynonymous SNV R620Q 0.022 0.023 0.034 9 26 9 0.023 10 0 0 0 0 Likely benign 26.7 108735 chr8 21982969 21982969 G A rs751114162 HR Synonymous SNV N535N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.44 108736 chr6 97553348 97553348 A C rs6930336 KLHL32 Synonymous SNV A219A 0.005 0 0.003 0 6 0 0 1 0 0 0 0 1.436 108737 chr6 2678541 2678541 C T rs35609073 MYLK4 Nonsynonymous SNV C318Y 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 29.5 108738 chr6 2749638 2749638 T C MYLK4 Nonsynonymous SNV Q20R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.581 108739 chr6 97702481 97702481 A G rs116019455 MMS22L Synonymous SNV H74H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.522 108740 chr8 22476748 22476748 G A rs79622417 CCAR2 Synonymous SNV A868A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 13.36 108741 chr6 2779607 2779607 G A rs139558660 WRNIP1 Nonsynonymous SNV S456N 0.003 0 0 0 4 0 0 0 0 0 0 0 13.1 108742 chr7 2578128 2578128 C T rs145833100 BRAT1 Nonsynonymous SNV E506K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.113 108743 chr6 3259400 3259400 C G PSMG4 Synonymous SNV R48R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 108744 chr8 144775898 144775898 A G rs201599845 ZNF707 Nonsynonymous SNV K69R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 108745 chr8 23147547 23147547 G T rs758180548 R3HCC1 Synonymous SNV V139V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 15.23 108746 chr8 23708881 23708881 G T rs777847621 STC1 Nonsynonymous SNV P142H 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 25.5 108747 chr7 100465188 100465188 C T rs11539290 TRIP6 Synonymous SNV I23I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.31 108748 chr9 14805066 14805066 T A rs143844459 FREM1 Nonsynonymous SNV Q1120L 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.15 108749 chr9 14805094 14805094 G A rs200339767 FREM1 Nonsynonymous SNV H1111Y 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 Likely benign 29 108750 chr8 144995480 144995480 C T rs199661077 PLEC Nonsynonymous SNV E2823K 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 108751 chr8 26721808 26721808 A G rs201951243 ADRA1A Nonsynonymous SNV S227P 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 27.5 108752 chr9 15214237 15214237 T G rs10961917 TTC39B Nonsynonymous SNV T128P 0.005 0 0.007 4 6 0 0.01 2 0 0 0 0 0.006 108753 chr8 26721764 26721764 G T rs7833704 ADRA1A Synonymous SNV A241A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.334 108754 chr9 15920266 15920266 A C CCDC171 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 108755 chr7 30791903 30791903 A C rs77743549 INMT Nonsynonymous SNV H46P 0.009 0.003 0.007 5 11 1 0.013 2 0 0 0 0 23.3 108756 chr16 593362 593362 G A rs141861277 MIR3176 0 0 0.01 0 0 0 0 3 0 0 0 0 0.78 108757 chr8 144997797 144997797 C T rs188154081 PLEC Synonymous SNV A2086A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.88 108758 chr9 18892552 18892552 C T rs200090957 ADAMTSL1 Synonymous SNV N1603N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.58 108759 chr9 214553 214553 G A DOCK8-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 108760 chr8 145112148 145112148 C T rs782207456 OPLAH Nonsynonymous SNV A500T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 108761 chr8 27925173 27925173 T C rs201782799 NUGGC Nonsynonymous SNV D190G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.932 108762 chr8 54142235 54142235 G A rs139043596 OPRK1 Synonymous SNV S255S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 8.827 108763 chr7 32584334 32584334 A C rs142055726 AVL9 Nonsynonymous SNV R81S 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 23.6 108764 chr16 67327544 67327544 - GCTCCA rs567420800 KCTD19 A707_K708insGA 0 0 0.003 0 0 0 0 1 0 0 0 0 108765 chr7 32910014 32910014 A G rs778127397 KBTBD2 Nonsynonymous SNV I272T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.4 108766 chr8 30704164 30704164 G T rs138205237 TEX15 Nonsynonymous SNV D1173E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 108767 chr6 3850359 3850359 G A rs770945816 FAM50B Nonsynonymous SNV R105Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 108768 chr16 67681608 67681608 C T rs373520864 CARMIL2 Synonymous SNV L299L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 108769 chr9 32632532 32632532 G A rs35905429 TAF1L Nonsynonymous SNV R1016C 0.017 0.018 0.027 8 20 7 0.021 8 0 0 0 0 28.8 108770 chr8 38033796 38033796 C T rs546734409 LSM1 Nonsynonymous SNV D15N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 108771 chr9 35396558 35396558 G A rs141240425 UNC13B Synonymous SNV R679R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.693 108772 chr7 4107543 4107543 C T rs200695848 SDK1 Synonymous SNV P995P 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 17.09 108773 chr8 71646112 71646112 A T rs142928544 XKR9 Nonsynonymous SNV D192V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.2 108774 chr8 145734981 145734981 C G rs1048419268 MFSD3 Nonsynonymous SNV P89A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 108775 chr16 69349994 69349994 G A rs80035728 VPS4A Synonymous SNV A35A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 13.1 108776 chr7 4213865 4213865 C T rs145365653 SDK1 Synonymous SNV D91D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 15.73 108777 chr16 69967969 69967969 C T rs8047888 WWP2 Synonymous SNV P154P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 13.59 108778 chr8 42977980 42977980 T G rs200555259 POMK Nonsynonymous SNV L338R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 108779 chr8 144550421 144550421 C T rs78291677 ZC3H3 Synonymous SNV T711T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 18.21 108780 chr8 17503501 17503501 G A rs12550193 MTUS1 Nonsynonymous SNV P1194L 0.011 0.01 0.014 6 13 4 0.015 4 1 0 0 0 4.087 108781 chr8 144621007 144621007 G T rs547169616 ZC3H3 Nonsynonymous SNV T177K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.51 108782 chr7 43484136 43484136 A G rs61756575 HECW1 Synonymous SNV A455A 0.01 0.008 0.01 8 12 3 0.021 3 0 0 0 0 7.923 108783 chr9 37744565 37744565 T G rs34233395 FRMPD1 Nonsynonymous SNV Y846D 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 26.5 108784 chr16 70708393 70708393 G T rs143838443 MTSS2 Nonsynonymous SNV A290D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 108785 chr8 56668900 56668900 A C rs144815186 TMEM68 Synonymous SNV A18A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.082 108786 chr16 720921 720921 G A rs372291769 RHOT2 Synonymous SNV P172P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.376 108787 chr8 6669631 6669631 G T rs28432964 XKR5 Synonymous SNV V383V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.178 108788 chr8 21927746 21927746 G A DMTN Nonsynonymous SNV E129K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 108789 chr8 6783459 6783459 A C rs13439322 DEFA6 Synonymous SNV A33A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.03 108790 chr8 6783479 6783479 C T rs45479905 DEFA6 Nonsynonymous SNV D27N 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 8.6 108791 chr8 22137020 22137020 - G PIWIL2 Frameshift insertion A43Sfs*39 0.002 0 0 0 2 0 0 0 0 0 0 0 108792 chr7 47876597 47876597 C T rs112879160 PKD1L1 Synonymous SNV P1955P 0.006 0.005 0 1 7 2 0.003 0 1 0 0 0 Likely benign 9.884 108793 chr8 22460893 22460893 G A rs112182952 LOC107986876 0.011 0.013 0.003 4 13 5 0.01 1 0 0 0 0 12.88 108794 chr6 46135310 46135310 A C rs35458749 ENPP5 Synonymous SNV T136T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.001 108795 chr8 67873649 67873649 C T TCF24 Nonsynonymous SNV G118S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.11 108796 chr8 95272605 95272605 G A rs2170363 GEM Nonsynonymous SNV R43C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.34 108797 chr8 95416452 95416452 G A rs765482000 RAD54B Nonsynonymous SNV P82L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.73 108798 chr8 69243304 69243317 CCGGCTCTCAGCGC - rs200653092 C8orf34 R20Pfs*37 0.011 0.005 0.007 6 13 2 0.015 2 0 0 1 0 108799 chr7 4830339 4830339 C T rs375030531 AP5Z1 Synonymous SNV Y502Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 6.257 108800 chr9 78917104 78917104 G A PCSK5 Nonsynonymous SNV R1192Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.58 108801 chr8 21856681 21856681 C T XPO7 Synonymous SNV F814F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 108802 chr16 81097373 81097373 A G rs138138977 C16orf46 Nonsynonymous SNV I63T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 108803 chr16 81211570 81211570 T C rs143824762 PKD1L2 Nonsynonymous SNV Y75C 0 0 0.007 0 0 0 0 2 0 0 0 0 12.8 108804 chr8 23560594 23560594 C T rs768775204 NKX2-6 Synonymous SNV Q92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.282 108805 chr8 82752079 82752079 T C rs139939820 SNX16 Nonsynonymous SNV N48S 0.011 0 0 4 13 0 0.01 0 0 0 0 0 0.001 108806 chr16 81733292 81733292 G A rs183876152 CMIP Synonymous SNV V453V 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 Benign 13.19 108807 chr9 104125124 104125124 A C rs140793591 BAAT Synonymous SNV S281S 0.011 0.003 0.003 4 13 1 0.01 1 0 0 0 0 Benign/Likely benign 0.036 108808 chr6 51907706 51907706 A G rs138989655 PKHD1 Synonymous SNV N1016N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 108809 chr6 51918009 51918009 G A rs375547868 PKHD1 Nonsynonymous SNV R669C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.232 108810 chr8 27516815 27516815 G T SCARA3 Nonsynonymous SNV K376N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 108811 chr6 51935838 51935838 C T rs144025892 PKHD1 Synonymous SNV G211G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.35 108812 chr8 27679966 27679966 C T rs373579758 PBK Nonsynonymous SNV C112Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 108813 chr8 24344811 24344811 G A rs146451180 ADAM7 Nonsynonymous SNV V358M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.4 108814 chr8 94777638 94777638 G A rs200329273 TMEM67 Nonsynonymous SNV V171I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.766 108815 chr8 25166356 25166356 A G rs369077261 DOCK5 Synonymous SNV T369T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.641 108816 chr8 25226231 25226231 A G DOCK5 Nonsynonymous SNV N1143S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.23 108817 chr8 28651434 28651434 C T rs138901254 INTS9 Synonymous SNV L288L 0.003 0 0.017 0 3 0 0 5 0 0 0 0 11.36 108818 chr9 95004477 95004477 C T rs34737051 IARS1 Nonsynonymous SNV V1018I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.4 108819 chr7 121758377 121758377 G C AASS Nonsynonymous SNV T224S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.76 108820 chr6 56434705 56434705 T C DST Synonymous SNV V1986V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.9 108821 chr6 56857189 56857189 C T rs148443947 BEND6 Nonsynonymous SNV S45L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 33 108822 chr9 111698715 111698715 C T rs150725760 ABITRAM Nonsynonymous SNV R87W 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 35 108823 chr8 3226785 3226785 G T CSMD1 Nonsynonymous SNV H964N 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 26.1 108824 chr16 86371123 86371123 G A rs16940887 LINC00917 0 0 0.041 0 0 0 0 12 0 0 0 0 2.148 108825 chr16 86371377 86371377 C A rs111305271 LINC00917 0 0 0.037 0 0 0 0 11 0 0 0 0 7.624 108826 chr7 6621244 6621244 T G ZDHHC4 Nonsynonymous SNV S42A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 8.324 108827 chr9 100897196 100897196 G A rs777103772 CORO2A Synonymous SNV N120N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.674 108828 chr7 127236464 127236464 G - rs753275639 FSCN3 Q309Sfs*18 0.004 0 0 7 5 0 0.018 0 0 0 0 0 108829 chr9 98734844 98734844 A G rs41281212 ERCC6L2 Synonymous SNV V948V 0.012 0.003 0.02 0 14 1 0 6 0 0 0 0 3.346 108830 chr8 3253846 3253846 C T rs373325511 CSMD1 Synonymous SNV S821S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 108831 chr9 107298694 107298694 C A OR13C3 Nonsynonymous SNV G134V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.05 108832 chr8 3263703 3263703 T C rs772828770 CSMD1 Nonsynonymous SNV I704M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 108833 chr8 39141140 39141140 G C ADAM32 Nonsynonymous SNV S686T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 108834 chr7 128845241 128845241 G A rs45541540 SMO Synonymous SNV T245T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 12.82 108835 chr8 19805776 19805776 C T rs372554872 LPL Synonymous SNV P58P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.63 108836 chr7 75168677 75168677 G A rs145864307 HIP1 Synonymous SNV Y958Y 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.11 108837 chr8 41571746 41571746 G A rs189710010 ANK1 Synonymous SNV A576A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.07 108838 chr9 115598624 115598624 A G SNX30 Nonsynonymous SNV D250G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 108839 chr8 37823205 37823205 G A rs549473233 ADRB3 Synonymous SNV A261A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.819 108840 chr6 74476690 74476692 TGG - rs780802817 CD109 V410del 0.001 0 0 0 1 0 0 0 0 0 0 0 108841 chrX 118239098 118239098 G A rs776154254 KIAA1210 Nonsynonymous SNV R309C 0.002 0.005 0 0 2 2 0 0 1 1 0 0 24.1 108842 chr8 38370037 38370037 T C rs75121345 C8orf86 Nonsynonymous SNV N123D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.329 108843 chr16 88782462 88782462 C T rs545171267 PIEZO1 Nonsynonymous SNV G2399S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.36 108844 chr9 112082540 112082540 C A rs375443441 EPB41L4B Nonsynonymous SNV G63C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 108845 chr16 88789048 88789048 G A rs766628276 PIEZO1 Nonsynonymous SNV A1573V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.068 108846 chr9 112899715 112899715 C A rs112958283 PALM2AKAP2 Nonsynonymous SNV P489T 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 0.002 108847 chr9 113169619 113169619 A G rs199899670 SVEP1 Nonsynonymous SNV L2754S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 108848 chr9 108360423 108360423 C T rs575069052 FKTN Nonsynonymous SNV R19W 0.002 0 0 0 2 0 0 0 0 0 0 0 0.074 108849 chr7 819602 819602 G A rs145339697 DNAAF5 Nonsynonymous SNV R751H 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 29.1 108850 chr9 113170636 113170636 C T rs192347509 SVEP1 Nonsynonymous SNV R2415K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.038 108851 chr6 76720918 76720918 A T rs751117208 IMPG1 Synonymous SNV L199L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.911 108852 chr16 8890443 8890443 G A rs142791436 TMEM186 Nonsynonymous SNV A3V 0 0.003 0.014 0 0 1 0 4 0 0 0 0 14.17 108853 chr9 117124045 117124045 G A rs45550039 AKNA Nonsynonymous SNV T569M 0.016 0.016 0.007 6 19 6 0.015 2 0 0 0 0 2.984 108854 chr9 114520419 114520419 A G rs370349286 SHOC1 Nonsynonymous SNV M115T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.331 108855 chr7 141847269 141847269 C T rs149891305 MGAM2 Synonymous SNV H510H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.06 108856 chr6 90605577 90605577 G A rs140533217 GJA10 Nonsynonymous SNV E464K 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 25.6 108857 chr9 115941067 115941067 C T rs11790757 FKBP15 Synonymous SNV E643E 0.009 0.005 0 0 11 2 0 0 0 0 0 0 16.84 108858 chr8 6728298 6728298 C T rs2738047 DEFB1 Nonsynonymous SNV V38I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.38 108859 chrX 153609246 153609246 C T rs376456050 EMD Nonsynonymous SNV R152C 0.002 0 0 0 2 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 22.4 108860 chr7 98461010 98461010 G A rs200698034 TMEM130 Synonymous SNV L33L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.144 108861 chr8 69243510 69243510 C A C8orf34 Nonsynonymous SNV A88E 0.001 0 0 0 1 0 0 0 0 0 0 0 35 108862 chr7 98779647 98779647 C T rs368199472 KPNA7 Synonymous SNV A392A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 8.293 108863 chr17 11556243 11556243 A G rs151174418 DNAH9 Nonsynonymous SNV D840G 0.007 0.01 0.01 3 8 4 0.008 3 0 0 0 0 Benign 16.67 108864 chr7 100486464 100486464 T G rs141166290 UFSP1 X143C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 16.15 108865 chr9 120470884 120470884 A G rs78848399 TLR4 Nonsynonymous SNV Y46C 0.002 0.003 0 0 2 1 0 0 1 0 0 0 22.9 108866 chr8 73849653 73849653 A G rs148879809 KCNB2 Nonsynonymous SNV H688R 0.009 0 0 2 10 0 0.005 0 0 0 0 0 0.002 108867 chr17 1373729 1373729 C T rs766921628 MYO1C Nonsynonymous SNV R789Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 108868 chr8 81399185 81399185 C T rs573842562 ZBTB10 Nonsynonymous SNV P47L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.47 108869 chr9 127570070 127570070 G A rs149246444 OLFML2A Synonymous SNV A179A 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 10.76 108870 chr9 123870336 123870336 G A rs112491470 CNTRL Synonymous SNV L355L 0.004 0 0.007 1 5 0 0.003 2 1 0 0 0 6.68 108871 chr17 16828711 16828711 C T rs62065425 TBC1D27P 0 0 0.014 0 0 0 0 4 0 0 1 0 0.217 108872 chr17 16828713 16828713 A T rs3752005 TBC1D27P 0 0 0.02 0 0 0 0 6 0 0 2 0 0.484 108873 chr8 87588263 87588283 TTTATCTTCATTTTCTTTTTG - rs746549330 CNGB3 Q727_K733del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 108874 chr9 100132332 100132332 G T CCDC180 Stop gain E1484X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 108875 chr7 150761715 150761715 G A rs145741704 SLC4A2 Nonsynonymous SNV R98Q 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 23.3 108876 chr9 127549455 127549455 A G rs200585902 OLFML2A Nonsynonymous SNV N98D 0.007 0.005 0.01 4 8 2 0.01 3 0 0 0 0 27.3 108877 chr9 101594211 101594211 C T rs149726976 GALNT12 Nonsynonymous SNV R297W 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Uncertain significance 27.3 108878 chr8 10690474 10690474 T G rs189959562 PINX1 Nonsynonymous SNV Q50H 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 25.4 108879 chr7 100551222 100551222 G C rs75720145 MUC3A Nonsynonymous SNV E601D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.049 108880 chr9 131020330 131020330 G A rs200987766 GOLGA2 Nonsynonymous SNV P774S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.246 108881 chrX 56041383 56041383 C T rs908020449 KLF8 Nonsynonymous SNV T4I 0.002 0.003 0 0 2 1 0 0 1 0 0 0 4.036 108882 chr9 131371197 131371197 C T rs367772623 SPTAN1 Synonymous SNV I1492I 0.009 0.013 0 8 11 5 0.021 0 1 0 0 0 Benign/Likely benign 20.4 108883 chr9 126144508 126144508 G C rs148982854 DENND1A Nonsynonymous SNV R756G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.7 108884 chr9 107331904 107331904 G A rs77184009 OR13C8 Synonymous SNV G152G 0.004 0.01 0 0 5 4 0 0 0 0 0 0 0.027 108885 chr8 119945502 119945502 G A TNFRSF11B Nonsynonymous SNV T23M 0.003 0 0 0 3 0 0 0 0 0 0 0 2.27 108886 chr8 67809074 67809074 C T rs145658266 MCMDC2 Synonymous SNV N502N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.81 108887 chr9 130941121 130941121 T C rs11549263 CIZ1 Synonymous SNV V354V 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign 1.421 108888 chr9 131110892 131110892 G A rs2240953 SLC27A4 Nonsynonymous SNV G209S 0.015 0.016 0.017 7 18 6 0.018 5 0 0 0 0 1.539 108889 chr9 131370294 131370294 G A rs752347538 SPTAN1 Nonsynonymous SNV R1417H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 108890 chr9 111673420 111673420 C T rs41278359 ELP1 Synonymous SNV P61P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.84 108891 chr9 112705342 112705342 G A rs201063232 PALM2AKAP2 Synonymous SNV G259G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.369 108892 chr9 107581904 107581904 G A rs55814314 ABCA1 Synonymous SNV R1068R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.02 108893 chr9 134016059 134016059 G A rs35387738 NUP214 Nonsynonymous SNV R419Q 0.008 0.003 0 3 9 1 0.008 0 1 0 0 0 6.903 108894 chr9 131866523 131866523 C G rs2228304 CRAT Synonymous SNV S118S 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 9.406 108895 chr9 131939126 131939126 G C rs2274722 IER5L Synonymous SNV V402V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.59 108896 chr9 131939657 131939657 G A rs183713843 IER5L Synonymous SNV A225A 0.002 0 0 2 2 0 0.005 0 1 0 0 0 7.596 108897 chr9 114904625 114904625 C G SUSD1 Nonsynonymous SNV W227C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 108898 chr9 115812140 115812140 G T rs151180938 ZFP37 Nonsynonymous SNV L64M 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 24.4 108899 chr9 135277060 135277060 G T TTF1 Nonsynonymous SNV N383K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.058 108900 chr17 26905500 26905500 G A rs143024358 SPAG5 Nonsynonymous SNV A1082V 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 24.8 108901 chr9 114820830 114820830 G C rs370128051 SUSD1 Nonsynonymous SNV P663A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 108902 chr7 100867096 100867096 G A rs200068858 ZNHIT1 Nonsynonymous SNV R139H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 108903 chr7 25266616 25266616 G C rs147644964 NPVF Nonsynonymous SNV S56R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.749 108904 chr17 28088206 28088206 G A rs966595090 SSH2 Synonymous SNV S30S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 108905 chr7 26192472 26192472 C G rs752868178 NFE2L3 Synonymous SNV A118A 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 10.46 108906 chr9 135554990 135554990 C T rs781306541 GTF3C4 Nonsynonymous SNV R662C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 108907 chr10 105926424 105926424 C T rs149358391 CFAP43 Nonsynonymous SNV R954H 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 6.917 108908 chr9 137622249 137622249 C T rs41306391 COL5A1 Synonymous SNV P364P 0.018 0.013 0.014 7 21 5 0.018 4 0 0 0 0 Benign 16.83 108909 chr17 33289090 33289090 G A rs149200056 ZNF830 Nonsynonymous SNV E169K 0.005 0 0.003 0 6 0 0 1 0 0 0 0 5.773 108910 chr9 136918504 136918504 G A rs138361550 BRD3 Synonymous SNV P32P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.74 108911 chr9 136521738 136521738 G A rs144040856 DBH Nonsynonymous SNV G510S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 108912 chr9 137979841 137979841 G T rs183749479 OLFM1 Synonymous SNV S2S 0.013 0.01 0.003 2 15 4 0.005 1 1 0 0 0 19.5 108913 chr17 34856693 34856693 C T rs559368460 MYO19 Nonsynonymous SNV R585Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.832 108914 chr7 127225118 127225118 C A rs373459451 GCC1 Nonsynonymous SNV R40L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 108915 chr17 3595009 3595009 C T rs61731589 P2RX5 Nonsynonymous SNV V73M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 108916 chr9 139804442 139804444 AGA - TRAF2 K201del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 108917 chr8 144732488 144732488 A T rs150073213 ZNF623 Nonsynonymous SNV K149I 0.006 0.016 0.01 3 7 6 0.008 3 0 0 0 0 26.2 108918 chr9 127265664 127265664 G A rs145936761 NR5A1 Nonsynonymous SNV S4L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 108919 chr9 139934480 139934480 C T rs149078095 NPDC1 Synonymous SNV S276S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 108920 chr8 144919852 144919852 G A rs55807257 NRBP2 Nonsynonymous SNV L306F 0.006 0.016 0.003 2 7 6 0.005 1 0 0 0 0 26.9 108921 chr9 127990240 127990240 G A rs145592986 RABEPK Nonsynonymous SNV R142Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 35 108922 chr7 133932379 133932379 C T rs764504716 LRGUK Synonymous SNV H685H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.46 108923 chr9 139814799 139814799 G A rs148589670 TRAF2 Synonymous SNV A264A 0.016 0.013 0.014 6 19 5 0.015 4 0 0 0 0 12.35 108924 chr9 139841132 139841132 G A rs150744928 C8G Nonsynonymous SNV V196I 0.014 0.013 0.014 5 16 5 0.013 4 0 0 0 0 14.7 108925 chr9 130117725 130117725 C T rs138237137 GARNL3 Nonsynonymous SNV P637S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 108926 chr9 139911723 139911723 G A rs749252167 ABCA2 Synonymous SNV Y826Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.144 108927 chr9 140387495 140387495 G A rs200763008 PNPLA7 Synonymous SNV L698L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.41 108928 chr9 140707553 140707553 C T EHMT1 Nonsynonymous SNV A981V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25.9 108929 chr7 45104112 45104112 C T rs146259619 CCM2 Synonymous SNV L55L 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 13.01 108930 chr9 140006454 140006454 C T rs145954715 DPP7 Nonsynonymous SNV A360T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 108931 chr9 131353848 131353848 G T rs374682395 SPTAN1 Nonsynonymous SNV E1033D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 108932 chr9 131512969 131512969 C G ZER1 Nonsynonymous SNV E429Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.64 108933 chr9 2039593 2039593 G T rs146359524 SMARCA2 Synonymous SNV P161P 0.011 0.003 0.01 5 13 1 0.013 3 0 0 0 0 Benign/Likely benign 8.884 108934 chr8 146032772 146032772 C T rs778312862 ZNF517 Synonymous SNV S150S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.15 108935 chr9 132620352 132620352 C T rs549242351 USP20 Synonymous SNV C53C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.5 108936 chr9 21481642 21481642 T C rs201106383 IFNE Nonsynonymous SNV T18A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 108937 chr9 133805305 133805305 G A rs377426772 FIBCD1 Synonymous SNV V67V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.386 108938 chr9 133914555 133914555 C T rs138234493 LAMC3 Synonymous SNV C401C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.82 108939 chr9 119449067 119449067 A G rs747692895 ASTN2 Synonymous SNV C6C 0.01 0.003 0 3 12 1 0.008 0 0 0 0 0 3.722 108940 chr9 20789502 20789502 G A rs150412472 FOCAD Synonymous SNV A450A 0.007 0.003 0 0 8 1 0 0 0 0 0 0 9.835 108941 chr7 142829304 142829304 C T rs142425119 PIP Nonsynonymous SNV T32I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 108942 chr7 143079874 143079874 C T MIR6892 0.001 0 0 0 1 0 0 0 0 0 0 0 1.923 108943 chr9 124073044 124073044 G A rs141314418 GSN Nonsynonymous SNV R196H 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.9 108944 chr8 19263328 19263328 C G rs61910741 CSGALNACT1 Nonsynonymous SNV R521P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 108945 chr9 135218085 135218085 T C SETX Nonsynonymous SNV N164D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 108946 chr7 148949825 148949825 G A rs568632772 ZNF212 Synonymous SNV A190A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 108947 chr9 136213517 136213517 T - MED22 Star tloss M1? 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 108948 chr10 15296800 15296800 G T rs138799489 FAM171A1 Nonsynonymous SNV T166N 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 24.9 108949 chr9 37432071 37432071 A C rs141800325 GRHPR Synonymous SNV G267G 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.577 108950 chr10 16528354 16528354 A G rs34687017 PTER Nonsynonymous SNV T146A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 5.162 108951 chr10 16528578 16528578 C T rs34728849 PTER Synonymous SNV G71G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 18.98 108952 chr7 6441630 6441630 G A rs11540456 RAC1 Synonymous SNV P140P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.921 108953 chr9 35740902 35740902 C T rs113785628 GBA2 Nonsynonymous SNV G316R 0.009 0.003 0.007 4 11 1 0.01 2 0 0 0 0 Benign 23.4 108954 chr17 40688633 40688633 C T rs758785463 NAGLU Nonsynonymous SNV P115S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 25.1 108955 chr7 150027802 150027802 C T rs75555338 ZBED6CL Synonymous SNV L103L 0.004 0.005 0.014 1 5 2 0.003 4 0 0 0 0 11.89 108956 chr10 17636247 17636247 G A rs17141386 HACD1 Synonymous SNV D247D 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign 9.278 108957 chr9 37860058 37860058 A G rs118047034 DCAF10 Synonymous SNV R220R 0.011 0.008 0.01 3 13 3 0.008 3 0 0 0 0 7.85 108958 chr9 5801283 5801283 T A rs147318623 ERMP1 Nonsynonymous SNV T654S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.701 108959 chr9 137716688 137716688 C T rs747549921 COL5A1 Synonymous SNV P1647P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 16.35 108960 chr9 138656945 138656945 G A rs146032445 KCNT1 Synonymous SNV A323A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 12.24 108961 chr7 150649750 150649750 C A rs144926928 KCNH2 Synonymous SNV P100P 0.008 0 0 3 9 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.363 108962 chr8 24207409 24207409 A G rs200346695 ADAM28 Nonsynonymous SNV M675V 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 108963 chr10 20357167 20357167 G T rs147312801 PLXDC2 Synonymous SNV G131G 0.004 0.008 0.003 6 5 3 0.015 1 0 0 0 0 10.14 108964 chr10 21112145 21112145 T G rs200756166 NEBL Nonsynonymous SNV I652L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 20.9 108965 chr7 150932631 150932631 G A rs117332591 CHPF2 Nonsynonymous SNV R254H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 25.5 108966 chr9 742386 742386 A G rs34662647 KANK1 Nonsynonymous SNV N1037S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 19.85 108967 chr10 24885785 24885785 C T rs111419738 ARHGAP21 Nonsynonymous SNV G908S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign 27.6 108968 chr9 139564387 139564387 G A rs146989870 EGFL7 Nonsynonymous SNV R112Q 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign 9.036 108969 chr9 139698994 139698994 G A rs200445045 CCDC183 Nonsynonymous SNV R236H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 108970 chr9 139379271 139379271 G A rs775338964 C9orf163 Nonsynonymous SNV S124N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.732 108971 chr8 28595034 28595034 A C EXTL3 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.4 108972 chr9 77354811 77354811 C T rs138982418 TRPM6 Nonsynonymous SNV R1767Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.78 108973 chr10 27323995 27323995 C T rs41299210 ANKRD26 Synonymous SNV K1127K 0.015 0.018 0.007 17 18 7 0.044 2 0 0 0 2 Benign 14.36 108974 chr9 140007259 140007259 T C DPP7 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 108975 chr8 30694758 30694758 T C rs138707908 TEX15 Synonymous SNV T3014T 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 3.796 108976 chr9 140138168 140138168 C T rs376922153 FAM166A Nonsynonymous SNV R313Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.557 108977 chr8 30705822 30705822 T C rs771500742 TEX15 Nonsynonymous SNV M621V 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 0.006 108978 chr7 87526649 87526649 G A rs61758726 DBF4 Star tloss M1? 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.884 108979 chr9 79323111 79323111 T C rs201365629 PRUNE2 Nonsynonymous SNV Q1360R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 16.26 108980 chr17 45916201 45916201 T C SCRN2 Nonsynonymous SNV K243R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 108981 chr17 45916999 45916999 C T rs138415129 SCRN2 Nonsynonymous SNV E123K 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 34 108982 chr9 79325761 79325761 C A rs759379067 PRUNE2 Nonsynonymous SNV V477L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.47 108983 chr7 16502446 16502446 T C rs34300902 SOSTDC1 Synonymous SNV G116G 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Benign 0.14 108984 chr8 37623101 37623101 A G rs79148472 PLPBP Star tloss M53V 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 Benign 13.8 108985 chr9 8485847 8485847 G A rs576886695 PTPRD Synonymous SNV Y990Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.299 108986 chr8 37689051 37689051 C T rs147457253 ADGRA2 Nonsynonymous SNV T348I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 22.3 108987 chr10 31137481 31137481 C T rs142346319 ZNF438 Nonsynonymous SNV G618D 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 12.92 108988 chr9 140202068 140202068 T G rs766188896 EXD3 Nonsynonymous SNV Q770P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 108989 chr9 95080904 95080904 C T rs41277645 NOL8 Nonsynonymous SNV R161H 0.014 0.01 0.003 7 16 4 0.018 1 0 0 0 0 15.49 108990 chr9 95237024 95237027 CTCA CTCCTCATCATCATCATCA ASPN Synonymous SNV E51E 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 108991 chr9 2039776 2039776 - CAG rs745316697 SMARCA2 Q238_P239insQ 0.014 0.005 0.003 4 16 2 0.01 1 0 0 0 0 108992 chr9 136282914 136282914 C G REXO4 Synonymous SNV V17V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.849 108993 chr9 20946813 20946813 C G rs966389745 FOCAD Nonsynonymous SNV S1223R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 108994 chr9 20953002 20953002 A G rs995594020 FOCAD Nonsynonymous SNV Y1357C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 108995 chr9 95841846 95841846 C T rs146086851 SUSD3 Synonymous SNV S110S 0.013 0.018 0.007 7 15 7 0.018 2 0 0 0 0 11.16 108996 chr9 96860789 96860789 G A rs149809271 PTPDC1 Synonymous SNV A647A 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 11.5 108997 chr7 23509591 23509591 C T rs137919890 IGF2BP3 Nonsynonymous SNV E47K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.2 108998 chr9 98211549 98211549 G C PTCH1 Synonymous SNV P1150P 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Likely benign 0.838 108999 chr9 22451349 22451349 C G rs202197256 DMRTA1 Nonsynonymous SNV S318R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.871 109000 chr9 99285550 99285550 G T CDC14B Nonsynonymous SNV P376H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 12.85 109001 chr9 98229452 98229452 C T rs78708791 PTCH1 Nonsynonymous SNV E784K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 109002 chr9 15874585 15874585 T G rs149814894 CCDC171 Nonsynonymous SNV L1183R 0.007 0.016 0.024 4 8 6 0.01 7 0 0 0 0 24.3 109003 chr7 99217536 99217536 C T rs145815306 ZSCAN25 Nonsynonymous SNV R103W 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 15.62 109004 chr9 32541853 32541853 C A TOPORS Nonsynonymous SNV K825N 0.002 0 0 0 2 0 0 0 0 0 0 0 19.63 109005 chr9 32541855 32541855 T G TOPORS Nonsynonymous SNV K825Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 109006 chrX 105150429 105150429 A G NRK Nonsynonymous SNV M290V 0.003 0.003 0 0 4 1 0 0 1 0 0 0 2.88 109007 chr9 32631475 32631475 T G TAF1L Nonsynonymous SNV Q1368P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 109008 chr9 32987594 32987594 G T rs34778324 APTX Nonsynonymous SNV S90Y 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 Benign/Likely benign 0.004 109009 chr9 33113786 33113786 T C rs147070468 B4GALT1 Synonymous SNV E350E 0.003 0 0.014 3 4 0 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 6.46 109010 chrX 114424132 114424132 G A rs201501183 RBMXL3 Nonsynonymous SNV R43Q 0.005 0.008 0.003 2 6 3 0.005 1 1 1 0 1 23.8 109011 chrX 107447592 107447592 C G rs151224348 COL4A6 Nonsynonymous SNV E246D 0.006 0.008 0 5 7 3 0.013 0 2 1 0 1 17.63 109012 chr7 99997413 99997413 C T rs114183192 PILRA Synonymous SNV D192D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.47 109013 chr8 67860369 67860369 C T rs112859779 TCF24 Nonsynonymous SNV G141S 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 34 109014 chr8 6794366 6794366 G T rs140882302 DEFA4 Nonsynonymous SNV A19E 0.009 0.013 0.014 3 10 5 0.008 4 0 0 0 0 15.37 109015 chr8 68102977 68102977 T C rs1808140 CSPP1 Nonsynonymous SNV W755R 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Benign 4.358 109016 chr9 34343281 34343281 C T rs200364521 NUDT2 Nonsynonymous SNV A96V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 109017 chr9 34382815 34382815 C G C9orf24 Nonsynonymous SNV R111S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 109018 chr8 72967828 72967828 G A rs374228201 TRPA1 Nonsynonymous SNV R458C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 109019 chrX 119387884 119387884 A C rs188184561 ZBTB33 Nonsynonymous SNV K205T 0.002 0 0 0 2 0 0 0 1 0 0 0 22.5 109020 chrX 123556388 123556388 C T rs772086665 TENM1 Nonsynonymous SNV R1395H 0.002 0 0 0 2 0 0 0 1 0 0 0 33 109021 chr9 32634811 32634811 C G rs55991718 TAF1L Nonsynonymous SNV G256A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 18.69 109022 chrX 129492671 129492671 G A SLC25A14 Nonsynonymous SNV D151N 0.003 0 0 0 4 0 0 0 1 0 0 0 17.49 109023 chr10 50534343 50534343 G A C10orf71 Synonymous SNV S1251S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.203 109024 chr8 8197010 8197010 C T rs56010828 PRAG1 Synonymous SNV R766R 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 15.49 109025 chr10 52573792 52573792 G A rs757450367 A1CF Nonsynonymous SNV A383V 0.002 0 0 0 2 0 0 0 0 0 0 0 33 109026 chrX 132438764 132438764 T C rs755420552 GPC4 Synonymous SNV K427K 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 5.41 109027 chr17 60484429 60484429 C T rs8068208 EFCAB3 Synonymous SNV P241P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.45 109028 chr7 39472801 39472801 C A POU6F2 Synonymous SNV I413I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 109029 chr17 60742254 60742254 G C rs116402606 MRC2 Nonsynonymous SNV S155T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.718 109030 chr9 140146242 140146242 G A rs201055445 STPG3 Nonsynonymous SNV E55K 0.003 0 0 0 3 0 0 0 0 0 0 0 23 109031 chr9 6553445 6553445 C T rs141933811 GLDC Nonsynonymous SNV A794T 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 0 Benign/Likely benign 1.289 109032 chr8 116616670 116616670 G A rs774172927 TRPS1 Nonsynonymous SNV T500I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 109033 chr9 36108143 36108143 G A rs375477269 RECK Nonsynonymous SNV V583I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 109034 chr17 62754722 62754722 G C rs147357524 ARHGAP27P1-BPTFP1-KPNA2P3 0 0 0.007 0 0 0 0 2 0 0 0 0 12.9 109035 chr8 95952441 95952441 G A rs75917719 TP53INP1 Synonymous SNV C40C 0.013 0.023 0.031 11 15 9 0.028 9 0 0 0 0 6.218 109036 chr9 36246044 36246044 G A rs7047950 GNE Synonymous SNV I141I 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 11.09 109037 chrX 144904432 144904432 C G rs55810646 SLITRK2 Synonymous SNV L163L 0.014 0.023 0.01 4 16 9 0.01 3 3 2 1 0 5.372 109038 chrX 151138777 151138777 C T rs61730040 GABRE Nonsynonymous SNV E52K 0.013 0.008 0.007 6 15 3 0.015 2 3 0 1 1 11.6 109039 chrX 151138818 151138818 T C rs61730039 GABRE Nonsynonymous SNV Y38C 0.013 0.008 0.007 6 15 3 0.015 2 3 0 1 1 12.43 109040 chrX 150154099 150154099 A G HMGB3 Synonymous SNV P9P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.175 109041 chr9 4117942 4117942 G T rs148199056 GLIS3 Nonsynonymous SNV D357E 0.014 0.01 0.01 6 17 4 0.015 3 1 0 0 1 Benign 12.13 109042 chr8 124693509 124693509 G A rs143112749 ANXA13 Nonsynonymous SNV R308W 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 29.7 109043 chr9 4118026 4118026 C T rs143229804 GLIS3 Synonymous SNV Q329Q 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Uncertain significance 0.25 109044 chr9 19118392 19118392 T G rs200263665 PLIN2 Nonsynonymous SNV K280T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 109045 chr17 6555308 6555328 CCGCGTGGAGACCTCGTCCCA - rs750335350 C17orf100 H32_D118delinsRRVETSQRRSEGPSLSPSGKRLPRILEASSRHVESSSQRTETTSRHVRASSLRVETSLHCAESPTPRPSRPPARTKKRPDEMLLPKGHQGARALSQDRKASSCQPASQLPGGPIIFGFMETNHKSM* 0 0 0.003 0 0 0 0 1 0 0 0 0 109046 chrX 19443725 19443725 C T rs200274989 MAP3K15 Nonsynonymous SNV V455I 0.005 0 0 0 6 0 0 0 1 0 0 0 Likely benign 11.8 109047 chrX 19984587 19984587 A G rs367941362 BCLAF3 Synonymous SNV Y74Y 0.004 0 0 0 5 0 0 0 1 0 0 0 0.012 109048 chrX 152821854 152821854 C T rs782112638 ATP2B3 Synonymous SNV T768T 0.003 0.003 0 0 3 1 0 0 1 0 0 0 17.47 109049 chr9 72055975 72055975 G A rs142885599 APBA1 Synonymous SNV T746T 0.003 0 0 0 4 0 0 0 0 0 0 0 12.13 109050 chrX 153416315 153416315 A G rs1065420 OPN1LW Synonymous SNV L100L 0.005 0.013 0.017 7 6 5 0.018 5 1 1 2 3 0.093 109051 chrX 17745131 17745131 G A rs762685365 NHS Nonsynonymous SNV A771T 0.004 0 0 0 5 0 0 0 1 0 0 0 Uncertain significance 27.8 109052 chr9 108337335 108337335 G A rs368981218 FKTN Nonsynonymous SNV V8M 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 29.4 109053 chrX 153608724 153608724 C T rs145985318 EMD Synonymous SNV H132H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 6.365 109054 chr9 86894893 86894893 C T rs377557715 SLC28A3 Nonsynonymous SNV A609T 0.003 0 0 0 3 0 0 0 0 0 0 0 35 109055 chr7 50607602 50607602 C T rs753275419 DDC-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 5.599 109056 chr9 33468056 33468056 T C rs202162427 NOL6 Nonsynonymous SNV M466V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.74 109057 chr9 91993832 91993832 C T rs113511187 SEMA4D Synonymous SNV T792T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Likely benign 10.85 109058 chrX 47919497 47919497 A G rs370981015 ZNF630 Synonymous SNV L112L 0.003 0 0 0 3 0 0 0 1 0 0 0 0.37 109059 chr10 73377069 73377069 C T rs7903475 CDH23 Synonymous SNV S351S 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Benign 13.01 109060 chrX 24197650 24197650 G A rs150375972 ZFX Nonsynonymous SNV D137N 0.007 0.003 0 0 8 1 0 0 2 0 0 0 22.8 109061 chr17 7225007 7225007 C G rs766466627 NEURL4 Nonsynonymous SNV G989R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 109062 chr8 135612651 135612651 G A rs77093412 ZFAT-AS1 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 7.167 109063 chr8 135614428 135614428 G A rs34008545 ZFAT Synonymous SNV L450L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 5.267 109064 chrX 70888721 70888721 T C rs759276584 LOC101059915 Synonymous SNV A356A 0.009 0.005 0 0 10 2 0 0 3 1 0 0 0.606 109065 chr9 115760400 115760400 C A ZNF883 Nonsynonymous SNV G47V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.82 109066 chrX 100645475 100645475 G A rs141862637 BTK Synonymous SNV S21S 0.013 0.008 0.031 13 15 3 0.033 9 3 1 2 4 Benign 0.455 109067 chr9 36846846 36846846 G A rs765671554 PAX5 Synonymous SNV G287G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.72 109068 chrX 46917782 46917782 C T rs782811130 JADE3 Nonsynonymous SNV S592L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 7.954 109069 chrX 47040634 47040634 T C rs143203694 RBM10 Synonymous SNV G346G 0.008 0.005 0.007 11 9 2 0.028 2 1 0 1 3 Benign 0.303 109070 chrX 102979828 102979828 T C GLRA4 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 109071 chr17 72915686 72915686 G C USH1G Synonymous SNV L312L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.254 109072 chr9 116053844 116053844 C T rs377236468 PRPF4 Synonymous SNV H490H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.13 109073 chr17 72923825 72923825 C T OTOP2 Nonsynonymous SNV S192F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 109074 chrX 104463832 104463832 C A rs1060551 TEX13A Synonymous SNV G348G 0.008 0.005 0.017 1 9 2 0.003 5 0 0 2 0 8.563 109075 chr9 116085333 116085333 - CAATTGCTG WDR31 L17_C18insQQL 0.001 0.003 0 0 1 1 0 0 0 0 0 0 109076 chrX 105905365 105905365 G A rs139595497 RADX Nonsynonymous SNV R603H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 109077 chrX 35966500 35966500 C T CFAP47 Nonsynonymous SNV A196V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.947 109078 chr17 73089683 73089683 G T rs745542558 SLC16A5 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 109079 chr9 95477559 95477559 C T rs34451610 BICD2 Synonymous SNV P815P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 10.85 109080 chrX 36049371 36049371 A G rs1039216843 CFAP47 Synonymous SNV A1186A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.107 109081 chrX 53440081 53440081 C T SMC1A Nonsynonymous SNV R208Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 109082 chr9 116831989 116831989 A G rs147941577 AMBP Nonsynonymous SNV I198T 0.006 0.003 0.003 6 7 1 0.015 1 0 0 0 0 0.002 109083 chrX 114425284 114425284 G A rs200064828 RBMXL3 Nonsynonymous SNV R427Q 0.003 0 0.003 0 3 0 0 1 1 0 0 0 9.548 109084 chr10 88233701 88233701 T C rs373017129 WAPL Synonymous SNV R552R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.936 109085 chr8 144654230 144654230 C T rs760806601 MROH6 Synonymous SNV E140E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 109086 chr9 71098781 71098781 G C PGM5 Nonsynonymous SNV R432S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.4 109087 chrX 69650883 69650883 C T GDPD2 Nonsynonymous SNV P456L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 5.954 109088 chr9 99522502 99522502 C T rs142307404 ZNF510 Nonsynonymous SNV G142S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.092 109089 chrX 50350408 50350408 G A rs12689863 SHROOM4 Nonsynonymous SNV S1245L 0.004 0.005 0 3 5 2 0.008 0 0 0 0 1 Benign 22.7 109090 chr17 73944392 73944392 A G rs771001963 ACOX1 Synonymous SNV D587D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 109091 chrX 50438789 50438789 C T rs148911180 SHROOM4 Nonsynonymous SNV R89K 0.009 0.01 0.014 11 11 4 0.028 4 2 0 1 3 Benign 24.6 109092 chrX 124456364 124456364 C T TEX13C Nonsynonymous SNV P799L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 109093 chrX 129147061 129147061 G A rs200478600 BCORL1 Nonsynonymous SNV V105M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 109094 chr17 74469185 74469185 C T rs138683747 RHBDF2 Synonymous SNV V604V 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 15.4 109095 chr7 73774541 73774541 C T rs202062702 CLIP2 Nonsynonymous SNV R418W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 109096 chrX 130417184 130417184 C G rs749338883 IGSF1 Nonsynonymous SNV G232A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 109097 chr10 94223617 94223617 T C rs145451690 IDE Nonsynonymous SNV T323A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.03 109098 chr10 105110766 105110766 C T rs755427741 PCGF6 Nonsynonymous SNV A20T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.56 109099 chrX 132458342 132458342 T C GPC4 Nonsynonymous SNV H181R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.746 109100 chrX 132458425 132458425 T A GPC4 Synonymous SNV G153G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.958 109101 chrX 69811657 69811657 C - TEX11 R695Lfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 109102 chr9 125330654 125330654 C A rs149595522 OR1L8 Nonsynonymous SNV V35L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14 109103 chr10 95454654 95454654 T C rs377557297 FRA10AC1 Nonsynonymous SNV Y87C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24 109104 chr10 95454673 95454673 C T rs146931399 FRA10AC1 Nonsynonymous SNV V81I 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 19.52 109105 chrX 75003951 75003951 A C rs777359656 MAGEE2 Nonsynonymous SNV N312K 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 16.51 109106 chr8 145095564 145095564 G A rs145159396 SPATC1 Nonsynonymous SNV G288R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.008 109107 chrX 79283563 79283563 G A rs527984602 TBX22 Nonsynonymous SNV A193T 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 17.18 109108 chr10 97725970 97725970 C T rs552573088 CC2D2B Synonymous SNV D459D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.29 109109 chr17 7674784 7674784 C T rs73232344 DNAH2 Nonsynonymous SNV P1500L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 28.4 109110 chrX 84363406 84363406 G A rs781357872 SATL1 Nonsynonymous SNV P190L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.59 109111 chr17 76888360 76888360 A G rs145329239 CEP295NL Nonsynonymous SNV W76R 0.008 0.003 0.027 8 9 1 0.021 8 0 0 0 0 0.263 109112 chrX 140993926 140993926 C T rs76335605 MAGEC1 Synonymous SNV L246L 0.007 0.01 0.007 4 8 4 0.01 2 1 1 0 0 7.828 109113 chr17 77016317 77016317 C T rs3744180 C1QTNF1-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 9.333 109114 chrX 96330187 96330187 G A DIAPH2 Nonsynonymous SNV R725H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 109115 chr17 7722643 7722643 C T rs75106566 DNAH2 Synonymous SNV L3644L 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 14.48 109116 chr9 12775861 12775861 - GGCGGCGGCGGCGGC rs139315731 LURAP1L G55_C56insGGGGG 0.003 0.005 0 0 3 2 0 0 0 0 0 0 109117 chr10 99473911 99473911 G A rs775836276 MARVELD1 Nonsynonymous SNV R93H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.6 109118 chr17 7759245 7759245 A T rs144306051 TMEM88 Nonsynonymous SNV I123F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.12 109119 chr9 95481857 95481857 C T rs867638753 BICD2 Nonsynonymous SNV R357Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 109120 chr10 116100461 116100461 C T rs41300231 AFAP1L2 Nonsynonymous SNV D16N 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 20.9 109121 chrX 152662610 152662610 G A rs181450068 PNMA6E Synonymous SNV P566P 0.006 0.008 0 1 7 3 0.003 0 1 1 0 0 0.86 109122 chr9 130485548 130485548 G C TTC16 Nonsynonymous SNV A257P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 109123 chrX 153034508 153034508 C G PLXNB3 Nonsynonymous SNV L458V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.036 109124 chr8 145772584 145772584 T C rs141652446 ARHGAP39 Nonsynonymous SNV Q629R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 109125 chr1 2430086 2430086 - GTGGGGGCC rs142848828 PLCH2 E756_I757insVGA 0.006 0 0 4 7 0 0.01 0 2 0 0 0 109126 chrX 153135518 153135518 G A rs200638763 L1CAM Synonymous SNV T323T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 6.507 109127 chr10 119003705 119003705 C T rs200945841 SLC18A2 Synonymous SNV S115S 0.003 0 0 0 3 0 0 0 0 0 0 0 12 109128 chrX 153219970 153219970 A G HCFC1 Nonsynonymous SNV C1294R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 109129 chr7 95039394 95039394 C G rs17876152 PON2 Nonsynonymous SNV V172L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 17.22 109130 chr7 95045560 95045560 A G rs115800748 PON2 Synonymous SNV F65F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.115 109131 chr7 95223029 95223029 T C rs34898343 PDK4 Nonsynonymous SNV D109G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 109132 chr7 95799397 95799397 C T rs866770831 SLC25A13 Nonsynonymous SNV G425D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.2 109133 chr9 131348076 131348076 A G rs138101005 SPTAN1 Synonymous SNV Q870Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.877 109134 chr17 78942681 78942681 C T rs72850524 LOC400627 0 0 0.071 0 0 0 0 21 0 0 1 0 3.71 109135 chrX 153583356 153583356 G A rs781783107 FLNA Nonsynonymous SNV T1677M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 109136 chr10 103766311 103766311 G A rs149442033 ARMH3 Nonsynonymous SNV P345L 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 23.3 109137 chr7 98460992 98460992 - T TMEM130 Frameshift insertion S39Rfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 109138 chrX 153694106 153694106 G A rs181941264 PLXNA3 Synonymous SNV L816L 0.004 0.016 0 2 5 6 0.005 0 0 3 0 1 2.69 109139 chr17 79107018 79107018 T - rs148953276 MIR1250 0 0 0.061 0 0 0 0 18 0 0 1 0 109140 chr8 17722212 17722212 C T rs141323626 FGL1 Synonymous SNV T276T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.59 109141 chr10 104404644 104404644 G A rs375705231 TRIM8 Synonymous SNV L90L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.983 109142 chrX 16711587 16711587 G A rs772286081 CTPS2 Synonymous SNV I154I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.65 109143 chrX 19425322 19425322 C T rs755117721 MAP3K15 Nonsynonymous SNV E610K 0.003 0 0 0 4 0 0 0 1 0 0 0 22.9 109144 chr17 79650779 79650779 C A rs747885808 ARL16 Nonsynonymous SNV C26F 0 0 0.003 0 0 0 0 1 0 0 0 0 26 109145 chr10 124358480 124358480 T C DMBT1 Synonymous SNV G550G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 109146 chr17 79826887 79826887 G T ARHGDIA Synonymous SNV T205T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 109147 chr11 1017524 1017524 A G MUC6 Synonymous SNV P1759P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.137 109148 chr17 80054211 80054211 G A FASN Synonymous SNV D37D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.777 109149 chr10 108447956 108447956 G A rs78945859 SORCS1 Synonymous SNV C518C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.46 109150 chr8 21958437 21958437 G T FAM160B2 Nonsynonymous SNV A523S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.013 109151 chrX 36018511 36018511 C A CFAP47 Nonsynonymous SNV P1097T 0.012 0.008 0 1 14 3 0.003 0 4 1 0 0 10.4 109152 chr1 8075637 8075637 A C ERRFI1 Nonsynonymous SNV L15V 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 7.452 109153 chr8 22459488 22459488 C T rs147403979 C8orf58 Nonsynonymous SNV P221S 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 19.27 109154 chr1 8385882 8385882 A G rs140406795 SLC45A1 Synonymous SNV A165A 0.008 0.013 0 7 9 5 0.018 0 0 0 0 0 0.507 109155 chrX 39932820 39932820 G C BCOR Synonymous SNV S593S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.581 109156 chr1 8415618 8415618 G T rs115891071 RERE Nonsynonymous SNV P956T 0.01 0.005 0 6 12 2 0.015 0 0 0 0 0 Benign 21.3 109157 chr10 129690960 129690960 G T rs375846400 CLRN3 Nonsynonymous SNV T30K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 109158 chrX 50345656 50345656 C T rs138240622 SHROOM4 Nonsynonymous SNV D1307N 0.002 0 0 3 2 0 0.008 0 1 0 0 1 32 109159 chrX 48820064 48820064 G A rs3027483 KCND1 Synonymous SNV R574R 0.016 0 0.007 9 19 0 0.023 2 5 0 1 3 6.165 109160 chrX 48925264 48925264 C T rs73495848 CCDC120 Synonymous SNV T538T 0.016 0.003 0 9 19 1 0.023 0 5 0 0 3 2.807 109161 chr8 10469454 10469454 G T rs181556707 RP1L1 Nonsynonymous SNV N718K 0.01 0.003 0.003 2 12 1 0.005 1 0 0 0 0 Likely benign 12.47 109162 chr10 115485256 115485256 G C rs201040237 CASP7 Nonsynonymous SNV C146S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27 109163 chr9 135982493 135982493 C T rs45487303 RALGDS Synonymous SNV E409E 0.014 0.034 0.01 4 16 13 0.01 3 0 0 0 0 12.01 109164 chr11 101833580 101833580 A G rs193150232 CEP126 Nonsynonymous SNV K605R 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 13.05 109165 chr10 129906301 129906301 C T rs771467677 MKI67 Nonsynonymous SNV R908Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.61 109166 chrX 49076224 49076224 - TCC rs112450928 CACNA1F E814_G815insE 0.02 0.008 0.01 9 23 3 0.023 3 6 1 1 3 109167 chrX 49126714 49126714 C T rs111938103 PPP1R3F Synonymous SNV L128L 0.018 0.003 0 9 21 1 0.023 0 6 0 0 3 10.71 109168 chrX 49137916 49137916 T C rs17148347 PPP1R3F Nonsynonymous SNV F6S 0.018 0.003 0 9 21 1 0.023 0 6 0 0 3 1.848 109169 chr9 136223541 136223541 C T rs143037947 SURF2 Nonsynonymous SNV R25C 0.013 0.013 0.003 1 15 5 0.003 1 0 0 0 0 12.28 109170 chrX 49846390 49846390 G A rs34464675 CLCN5 Synonymous SNV S203S 0.016 0.003 0 9 19 1 0.023 0 5 0 0 3 Benign 11.84 109171 chrX 70469935 70469935 G A ZMYM3 Nonsynonymous SNV P398S 0.002 0 0 0 2 0 0 0 1 0 0 0 3.39 109172 chr11 102221002 102221002 A G rs150868637 BIRC2 Synonymous SNV L139L 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 0.036 109173 chr8 26614226 26614226 C T rs10111832 ADRA1A Synonymous SNV E318E 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 6.769 109174 chrX 70375080 70375080 T C rs144247281 NLGN3 Synonymous SNV G158G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 2.921 109175 chr8 124095027 124095027 G A TBC1D31 Nonsynonymous SNV A104T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 109176 chr11 1074938 1074938 C T MUC2 Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.907 109177 chr9 139350516 139350516 G A rs45464197 SEC16A Nonsynonymous SNV R1885W 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 26.9 109178 chr11 108593787 108593787 C T rs61755348 DDX10 Synonymous SNV T521T 0.009 0.018 0.003 1 11 7 0.003 1 0 0 0 0 Benign 5.773 109179 chr18 30093946 30093946 A C rs11873902 WBP11P1 0 0 0.129 0 0 0 0 38 0 0 11 0 0.15 109180 chr10 104230515 104230515 G A rs149879373 MFSD13A Synonymous SNV A115A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 13.17 109181 chr1 16474982 16474982 C G rs36037949 EPHA2 Synonymous SNV P184P 0.01 0.005 0.003 5 12 2 0.013 1 0 0 0 0 Benign 0.706 109182 chr18 30873254 30873254 T C rs747456436 CCDC178 Nonsynonymous SNV S349G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 109183 chr10 105037171 105037171 G T rs761768626 INA Nonsynonymous SNV R68L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.27 109184 chr10 15175336 15175336 T C rs145950604 NMT2 Nonsynonymous SNV I140V 0.005 0 0 0 6 0 0 0 0 0 0 0 15.55 109185 chr1 16560107 16560107 C T rs776638434 CPLANE2 Nonsynonymous SNV G89S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 109186 chr9 139972672 139972672 G A rs759763823 UAP1L1 Nonsynonymous SNV G154S 0.005 0 0.003 0 6 0 0 1 0 0 0 0 14.28 109187 chr11 111963883 111963883 C T rs111659413 SDHD Nonsynonymous SNV R132W 0.006 0.018 0 8 7 7 0.021 0 0 1 0 0 0.44 109188 chrX 36178812 36178812 C T rs140766362 CFAP47 Synonymous SNV C1984C 0.003 0 0 0 3 0 0 0 1 0 0 0 0.604 109189 chr8 133885365 133885365 A G rs114875802 TG Synonymous SNV S179S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.368 109190 chr8 48586375 48586375 G T rs201348051 SPIDR Synonymous SNV L24L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.933 109191 chr8 133931726 133931726 T C rs61740825 TG Nonsynonymous SNV V1495A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 109192 chr1 19566858 19566858 G A rs141614470 EMC1 Nonsynonymous SNV P218L 0.003 0 0.003 7 3 0 0.018 1 0 0 0 0 Benign/Likely benign 22.9 109193 chr11 117050037 117050037 C T SIDT2 Synonymous SNV L20L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.68 109194 chr11 117052674 117052674 G A rs140766167 SIDT2 Nonsynonymous SNV D153N 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 19.77 109195 chr9 17135270 17135270 - G rs578214691 CNTLN Frameshift insertion A72Gfs*51 0.001 0.003 0 0 1 1 0 0 0 0 0 0 109196 chr8 69050700 69050700 G A PREX2 Synonymous SNV L1345L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 109197 chr10 111651526 111651526 G C rs149560401 XPNPEP1 Synonymous SNV L9L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.577 109198 chr11 118071315 118071315 G A rs148107592 JAML Nonsynonymous SNV P223L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 109199 chr10 114053512 114053512 T A rs41296127 TECTB Nonsynonymous SNV I167N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.92 109200 chr9 20881888 20881888 C T rs147376982 FOCAD Nonsynonymous SNV T779I 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Likely benign 20.6 109201 chr10 114185141 114185141 C G rs375234780 ACSL5 Nonsynonymous SNV L603V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 109202 chr9 21305251 21305251 G A IFNA5 Nonsynonymous SNV A2V 0.004 0 0 0 5 0 0 0 0 0 0 0 23 109203 chr10 30316500 30316500 - CTG rs34594193 JCAD S859_E860insS 0.015 0.01 0.014 1 18 4 0.003 4 0 0 0 0 109204 chr10 30336664 30336664 G C rs76425998 JCAD Nonsynonymous SNV N26K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 109205 chr1 24400689 24400689 C T rs755844811 MYOM3 Nonsynonymous SNV D977N 0 0 0 3 0 0 0.008 0 0 0 0 0 27.8 109206 chr10 11911631 11911631 C A PROSER2 Synonymous SNV P178P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.24 109207 chr8 144657384 144657384 G A rs368170412 NAPRT Nonsynonymous SNV R448W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 109208 chr10 3159006 3159006 C T rs61755068 PFKP Synonymous SNV T254T 0.006 0.003 0.003 7 7 1 0.018 1 0 0 0 0 15.9 109209 chr8 144668944 144668944 T C EEF1D Synonymous SNV R24R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.747 109210 chr18 60021667 60021667 C T rs35003467 TNFRSF11A Synonymous SNV P109P 0.009 0.013 0.014 2 11 5 0.005 4 0 0 0 0 Benign/Likely benign 14.36 109211 chr1 24513723 24513723 G C rs139958347 IFNLR1 Nonsynonymous SNV R6G 0.015 0.021 0.003 10 18 8 0.026 1 1 0 0 1 16.9 109212 chr18 60241617 60241617 C T rs201968749 ZCCHC2 Nonsynonymous SNV T768I 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 23.4 109213 chr9 33675816 33675816 G C rs146747019 PTENP1 0.013 0.029 0.017 6 15 11 0.015 5 0 1 0 0 2.196 109214 chr8 144808829 144808861 CCTGCGCTCCGGCACGGGGGGCACCGGACTGCT - rs782307861 FAM83H S924_R934del 0.001 0 0 0 1 0 0 0 0 0 0 0 109215 chr10 117024753 117024753 G A rs114220247 ATRNL1 Nonsynonymous SNV G591R 0.009 0.003 0 0 10 1 0 0 0 0 0 0 27.1 109216 chr8 9619112 9619112 C G rs768586368 TNKS Nonsynonymous SNV I1080M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 109217 chr8 97256207 97256207 C T rs146707087 MTERF3 Synonymous SNV T333T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.976 109218 chr8 99101544 99101544 C T rs34144950 ERICH5 Nonsynonymous SNV S100F 0.015 0.003 0.003 4 18 1 0.01 1 0 0 0 0 23 109219 chr10 35929256 35929270 CCGCGCCCGCGCCCG - rs777191512 FZD8 A363_A367del 0.002 0 0 0 2 0 0 0 0 0 0 0 109220 chr8 144895096 144895096 G A rs765553733 SCRIB Synonymous SNV D226D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.25 109221 chr10 124096014 124096014 A G rs150944464 BTBD16 Nonsynonymous SNV I424M 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 0.411 109222 chr10 118427779 118427779 T C rs2901117 C10orf82 Synonymous SNV P15P 0.003 0 0.017 0 4 0 0 5 0 0 0 0 0.16 109223 chr9 35906586 35906586 - CCACCACCACCA HRCT1 H105_P106insHHHH 0.004 0 0 4 5 0 0.01 0 0 0 0 0 109224 chr10 19494010 19494010 C A rs966315987 MALRD1 Synonymous SNV G798G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 15.82 109225 chr8 144991629 144991629 C T rs146781600 PLEC Synonymous SNV P4106P 0.016 0.01 0.014 4 19 4 0.01 4 1 0 0 0 Benign/Likely benign 7.447 109226 chr18 67812938 67812938 G A rs746834538 RTTN Synonymous SNV D797D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.272 109227 chr8 145024727 145024727 G A rs371156105 PLEC Nonsynonymous SNV R50C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 109228 chr18 68003627 68003627 T C rs149193168 LINC01909 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 109229 chr8 145101782 145101782 C T rs140647326 SPATC1 Synonymous SNV L567L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 109230 chr1 27106975 27106975 C T rs149633292 ARID1A Synonymous SNV L2196L 0.007 0.005 0 6 8 2 0.015 0 0 0 0 0 Benign 8.937 109231 chr8 145139047 145139047 G C rs376959806 GPAA1 Synonymous SNV S209S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.041 109232 chr18 6999625 6999625 G A LAMA1 Synonymous SNV S1494S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.865 109233 chr9 4544624 4544624 T A rs2228621 SLC1A1 Nonsynonymous SNV F50Y 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 14.77 109234 chr1 28209484 28209484 C T rs201614111 THEMIS2 Nonsynonymous SNV P550L 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 28.4 109235 chr11 123909178 123909178 G C rs566459285 OR10G7 Nonsynonymous SNV F177L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.5 109236 chr1 28802695 28802695 C G rs141772598 PHACTR4 Nonsynonymous SNV P510A 0.002 0 0 6 2 0 0.015 0 0 0 0 0 6.827 109237 chr11 123909181 123909181 G A rs527425360 OR10G7 Synonymous SNV Y176Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.82 109238 chr11 123909194 123909194 T C rs55868851 OR10G7 Nonsynonymous SNV Q172R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.006 109239 chr18 74563739 74563739 A G rs758026169 ZNF236 Synonymous SNV R69R 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 8.654 109240 chr1 29641893 29641893 C T rs772369273 PTPRU Synonymous SNV T1076T 0.003 0.003 0.003 6 3 1 0.015 1 0 0 0 0 18.86 109241 chr9 72967208 72967208 A T rs766735961 SMC5 Nonsynonymous SNV Q1089H 0.002 0.01 0 0 2 4 0 0 0 0 0 0 0.414 109242 chr18 76757145 76757145 C T rs148335210 SALL3 Synonymous SNV P1242P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.309 109243 chr18 77227509 77227509 C T rs55829785 NFATC1 Synonymous SNV H201H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.7 109244 chr18 77659774 77659776 CGA - rs1032453831 KCNG2 D455del 0 0 0.003 0 0 0 0 1 0 0 0 0 109245 chr11 124507019 124507019 G A rs7941523 SIAE Nonsynonymous SNV A467V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 9.771 109246 chr11 124539273 124539273 T C rs12282107 SIAE Nonsynonymous SNV K71R 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 16.65 109247 chr10 133795400 133795400 C G rs45541140 BNIP3 Nonsynonymous SNV A36P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.23 109248 chr8 17813106 17813106 A C rs199510239 PCM1 Synonymous SNV L472L 0.006 0 0 5 7 0 0.013 0 0 0 0 0 Benign 2.001 109249 chr8 17815114 17815114 G A rs200548498 PCM1 Nonsynonymous SNV E624K 0.006 0 0 5 7 0 0.013 0 0 0 0 0 Benign 22.8 109250 chr1 35847342 35847342 A G rs77324819 ZMYM4 Nonsynonymous SNV I194V 0 0 0 2 0 0 0.005 0 0 0 0 0 4.304 109251 chr10 134622327 134622327 A T rs140904273 CFAP46 Synonymous SNV P2582P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.008 109252 chr8 1949841 1949841 C T rs545459005 KBTBD11 Synonymous SNV R161R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.261 109253 chr11 125542576 125542576 T A rs184197662 ACRV1 Nonsynonymous SNV N237I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 27.2 109254 chr9 85677722 85677722 C T rs753491627 RASEF Nonsynonymous SNV D21N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 34 109255 chr10 134699391 134699391 T C rs150871636 CFAP46 Nonsynonymous SNV D1126G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 24.1 109256 chr9 96081433 96081433 C T rs117465023 C9orf129 Nonsynonymous SNV R130H 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 23.2 109257 chr9 96714539 96714539 C G BARX1 Synonymous SNV T224T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.3 109258 chr10 69565464 69565464 C T rs764917850 DNAJC12 Nonsynonymous SNV E127K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 109259 chr10 135084461 135084461 C T rs140754915 ADAM8 Synonymous SNV T457T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.12 109260 chr9 123937466 123937466 T C rs146837361 CNTRL Synonymous SNV S1707S 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Benign 2.197 109261 chr10 135106014 135106014 G A rs76511868 TUBGCP2 Synonymous SNV H271H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.761 109262 chr10 135207760 135207760 C T rs370228734 MTG1 Synonymous SNV A12A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.5 109263 chr10 49944123 49944123 C G rs772450422 WDFY4 Stop gain S629X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.63 109264 chr10 49951198 49951198 G A rs141273838 WDFY4 Synonymous SNV V688V 0.015 0.021 0.003 5 18 8 0.013 1 0 1 0 0 4.884 109265 chrX 117809966 117809966 A G rs61729104 DOCK11 Nonsynonymous SNV K1756R 0.005 0 0 0 6 0 0 0 2 0 0 0 Benign 13.88 109266 chr19 13319693 13319693 - TGG rs764972478 CACNA1A H2220_P2221insH 0.001 0 0.003 0 1 0 0 1 0 0 0 0 109267 chr10 72517796 72517796 G A rs146237817 ADAMTS14 Nonsynonymous SNV E1006K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 109268 chr10 128807036 128807045 TGAAGATAAG - DOCK1 E343Sfs*20 0.001 0 0 1 1 0 0.003 0 0 0 0 0 109269 chr19 14001018 14001018 G A rs200089068 C19orf57 Synonymous SNV A99A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.817 109270 chrX 129203318 129203318 C T rs148953158 ELF4 Nonsynonymous SNV V382I 0.003 0 0 0 4 0 0 0 1 0 0 0 16.79 109271 chr8 2832075 2832075 C T rs199997360 CSMD1 Nonsynonymous SNV V2880I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 4.895 109272 chr19 15121690 15121691 CC - rs577782567 CCDC105 P19Sfs*129 0 0 0.003 0 0 0 0 1 0 0 0 0 109273 chr19 15121692 15121692 C T rs200591174 CCDC105 Nonsynonymous SNV P19S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 109274 chr8 28908578 28908578 T C HMBOX1 Nonsynonymous SNV L390S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 109275 chr8 28997648 28997648 C T rs754537721 KIF13B Nonsynonymous SNV A849T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 109276 chr10 23633479 23633479 G T LOC105376453 0.006 0.013 0 0 7 5 0 0 0 0 0 0 7.973 109277 chr9 130164887 130164887 C T rs62637572 SLC2A8 Nonsynonymous SNV S30F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.24 109278 chr9 130164929 130164929 G A rs144114324 SLC2A8 Nonsynonymous SNV R44H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 109279 chr9 130258258 130258258 C G LRSAM1 Nonsynonymous SNV R572G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 109280 chrX 150840743 150840760 TGCAGAAGCAGAAGAAGA - PASD1 K511_Q516del 0.005 0 0 0 6 0 0 0 2 0 0 0 109281 chr8 3432478 3432478 C T rs558637731 CSMD1 Nonsynonymous SNV D445N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 109282 chr10 61836174 61836174 G A rs41274676 ANK3 Nonsynonymous SNV P1489S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.73 109283 chr8 37555946 37555946 C T ZNF703 Synonymous SNV A509A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 109284 chr19 15870997 15870997 C A rs4807981 CYP4F24P 0 0 0.017 0 0 0 0 5 0 0 0 0 3.31 109285 chr9 131502313 131502313 C T rs150689943 ZER1 Nonsynonymous SNV E647K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 109286 chr8 40438716 40438716 A G ZMAT4 Synonymous SNV H138H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.419 109287 chr19 16060517 16060517 G A rs140031931 OR10H4 Nonsynonymous SNV E234K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 22.9 109288 chr1 54507450 54507450 T A TMEM59 Nonsynonymous SNV H124L 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 21.1 109289 chr8 66582229 66582229 A G rs140777926 MTFR1 Synonymous SNV Q14Q 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 5.735 109290 chr11 281833 281833 G A NLRP6 Nonsynonymous SNV G700D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 109291 chr10 34620077 34620077 G A rs16935326 PARD3 Nonsynonymous SNV A862V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 6.534 109292 chr8 68130265 68130265 C A rs142342517 ARFGEF1 Nonsynonymous SNV A1483S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 16.51 109293 chr19 17396289 17396289 C T rs139046298 ANKLE1 Nonsynonymous SNV R439C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.675 109294 chrX 2861167 2861167 G T rs376707494 ARSL Synonymous SNV G301G 0.003 0 0 0 4 0 0 0 1 0 0 0 1.798 109295 chr19 17434366 17434366 G A ANO8 Nonsynonymous SNV P1220L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 109296 chr19 17439694 17439694 G A ANO8 Synonymous SNV G501G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.505 109297 chrX 31089945 31089945 G T rs763621950 FTHL17 Nonsynonymous SNV F42L 0.007 0 0 3 8 0 0.008 0 2 0 0 0 11.89 109298 chr11 33094215 33094215 G A rs3168277 TCP11L1 Nonsynonymous SNV R508Q 0.013 0.005 0.014 6 15 2 0.015 4 0 0 0 0 15.14 109299 chrX 41555774 41555774 A G rs138580045 GPR34 Synonymous SNV V296V 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 0.004 109300 chr19 18092784 18092784 C T rs74940055 KCNN1 Synonymous SNV A255A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.98 109301 chr10 99327790 99327790 C T rs201657638 UBTD1 Nonsynonymous SNV R64C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 109302 chr10 99349915 99349915 C T rs370594513 C10orf62 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.367 109303 chrX 48681883 48681883 C T rs138084502 HDAC6 Nonsynonymous SNV S1025L 0.009 0.008 0 0 10 3 0 0 2 1 0 0 Likely benign 12.42 109304 chr10 99531284 99531284 C T rs143647630 SFRP5 Nonsynonymous SNV D103N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.5 109305 chr9 136677338 136677338 G A rs148600123 VAV2 Synonymous SNV D150D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.962 109306 chr10 59976035 59976035 C T rs148977478 IPMK Synonymous SNV K139K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.26 109307 chr10 81373674 81373674 T C rs4253526 SFTPA1 Synonymous SNV Y184Y 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 0.002 109308 chr8 8747631 8747631 C T rs146683029 MFHAS1 Nonsynonymous SNV V980M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.6 109309 chr10 48370992 48370992 G A rs781849615 ZNF488 Nonsynonymous SNV G154R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 109310 chr10 82272011 82272011 G A rs777552445 TSPAN14 Nonsynonymous SNV V65M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.7 109311 chr10 61958119 61958119 C T rs16914613 ANK3 Synonymous SNV A539A 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 Benign 19.57 109312 chr10 64414651 64414651 C T rs776212992 ZNF365 Synonymous SNV H29H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.96 109313 chr10 64973394 64973394 G T JMJD1C Nonsynonymous SNV L626I 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 109314 chr10 87615801 87615801 C T rs140654553 GRID1 Synonymous SNV L366L 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 10.09 109315 chr1 82417696 82417696 A G rs141619218 ADGRL2 Nonsynonymous SNV K551R 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Likely benign 18.75 109316 chr9 139649934 139649934 G A rs61740585 LCN8 Synonymous SNV Y110Y 0.01 0.013 0.003 6 12 5 0.015 1 0 0 0 0 4.7 109317 chr9 139694454 139694454 - AAGA rs544503929 CCDC183 Frameshift insertion V91Efs*100 0.003 0 0 0 3 0 0 0 0 0 0 0 109318 chr10 90530701 90530701 G A rs150167048 LIPN Nonsynonymous SNV E258K 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Likely benign 25.5 109319 chr9 139694455 139694455 T A rs201098545 CCDC183 Nonsynonymous SNV V91E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 109320 chr9 139694457 139694457 G C rs202027936 CCDC183 Nonsynonymous SNV V92L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 109321 chr9 100107950 100107950 C T rs71501812 CCDC180 Nonsynonymous SNV P895L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.767 109322 chr10 91359188 91359188 A G rs752411685 PANK1 Synonymous SNV V152V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.685 109323 chr9 100854283 100854283 C T rs145652674 TRIM14 Nonsynonymous SNV S234N 0.01 0.016 0.003 5 12 6 0.013 1 0 0 0 0 0.01 109324 chr19 22784679 22784679 G A rs115581662 GOLGA2P9 0 0 0.003 0 0 0 0 1 0 0 0 0 0.48 109325 chr10 93744097 93744097 T C BTAF1 Nonsynonymous SNV V788A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 2.841 109326 chr19 22785453 22785453 G A rs60588450 GOLGA2P9 0 0 0.014 0 0 0 0 4 0 0 0 0 3.054 109327 chr19 22786284 22786284 - C rs141668737 GOLGA2P9 0 0 0.02 0 0 0 0 6 0 0 0 0 109328 chr19 22790859 22790859 A G rs2306964 LOC100996349 0 0 0.014 0 0 0 0 4 0 0 1 0 1.781 109329 chr19 22790937 22790937 C T rs62621413 LOC100996349 0 0 0.003 0 0 0 0 1 0 0 0 0 1.902 109330 chr9 106887386 106887386 G A rs372968302 SMC2 Synonymous SNV Q817Q 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 12.32 109331 chr10 6470172 6470172 G T PRKCQ Synonymous SNV S643S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.733 109332 chr10 99023318 99023318 G A rs141073658 ARHGAP19 Nonsynonymous SNV L158F 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 29.6 109333 chr11 102575508 102575508 T A rs199822515 MMP27 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 109334 chr9 14851594 14851594 C T rs41313784 FREM1 Synonymous SNV A289A 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 Likely benign 17.97 109335 chr9 14857740 14857740 T C rs950739 FREM1 Synonymous SNV R222R 0.015 0.005 0.024 3 18 2 0.008 7 0 0 0 0 Benign 0.106 109336 chr9 111882168 111882168 T C rs574526692 TMEM245 Nonsynonymous SNV D9G 0.005 0 0 0 6 0 0 0 1 0 0 0 0.019 109337 chr10 99439382 99439382 C T rs149721540 AVPI1 Nonsynonymous SNV R94H 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 24 109338 chr19 35590199 35590199 C T HPN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 109339 chr10 99625338 99625338 C T rs138819524 CRTAC1 Synonymous SNV S651S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 12.96 109340 chr1 100382037 100382037 A G rs143815159 AGL Nonsynonymous SNV N1444S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 109341 chr11 100169925 100169925 G C rs766533688 CNTN5 Nonsynonymous SNV G732A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.2 109342 chr1 100921027 100921027 C T rs755291422 CDC14A Nonsynonymous SNV P196S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.1 109343 chr19 35899728 35899728 G T rs76528132 LINC01531 0 0 0.027 0 0 0 0 8 0 0 1 0 0.106 109344 chr1 108735227 108735227 C G rs45488498 SLC25A24 Nonsynonymous SNV G6A 0 0 0 4 0 0 0.01 0 0 0 0 1 15.93 109345 chr19 36298022 36298022 T C rs73594420 PRODH2 Nonsynonymous SNV N276S 0.02 0.01 0.007 7 23 4 0.018 2 1 0 0 0 0.001 109346 chr19 36380906 36380906 C T rs28612528 NFKBID Synonymous SNV P273P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 15.86 109347 chr19 36497403 36497403 T C rs557057979 SYNE4 Synonymous SNV Q150Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.005 109348 chr1 110581896 110581896 A G rs757879228 STRIP1 Nonsynonymous SNV K48R 0 0 0 3 0 0 0.008 0 0 0 0 0 0.784 109349 chr1 110921952 110921952 C T rs35157487 SLC16A4 Nonsynonymous SNV A75T 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Benign 6.53 109350 chr19 3730427 3730427 G A rs374674671 TJP3 Synonymous SNV S112S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.246 109351 chr9 36665550 36665550 G A rs369059064 MELK Synonymous SNV T329T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.401 109352 chr9 37744525 37744525 C T FRMPD1 Synonymous SNV A832A 0.003 0 0 0 4 0 0 0 0 0 0 0 13.92 109353 chr10 79580879 79580879 C T rs145478098 DLG5 Synonymous SNV P1121P 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 12.63 109354 chr10 70719830 70719830 A G rs781489820 DDX21 Nonsynonymous SNV E51G 0.006 0.005 0 0 7 2 0 0 0 0 0 0 22.5 109355 chr10 97963824 97963824 A G rs144266674 BLNK Nonsynonymous SNV I203T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 109356 chr11 116729081 116729081 G A rs375769186 SIK3 Nonsynonymous SNV R926W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 109357 chr11 117117596 117117596 G A RNF214 Synonymous SNV K297K 0.003 0 0 0 3 0 0 0 0 0 0 0 14.24 109358 chr9 5534924 5534924 C G rs56072800 PDCD1LG2 Nonsynonymous SNV Q79E 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 14.82 109359 chr10 81923123 81923123 G A rs541062920 ANXA11 Synonymous SNV L356L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 6.538 109360 chr9 6328796 6328796 C T rs142696829 TPD52L3 Synonymous SNV T67T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.871 109361 chr9 126135689 126135689 G A rs889392526 CRB2 Nonsynonymous SNV R960H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.24 109362 chr9 127287121 127287121 C T rs767016742 NR6A1 Synonymous SNV L407L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 109363 chr9 127561622 127561622 T G rs759868832 OLFML2A Nonsynonymous SNV L174R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 109364 chr10 73520649 73520649 G A rs143030978 VSIR Nonsynonymous SNV P182S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.74 109365 chr19 39914879 39914879 A T PLEKHG2 Nonsynonymous SNV T977S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.269 109366 chr10 95660658 95660658 C T rs140816197 SLC35G1 Nonsynonymous SNV T170M 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 31 109367 chr19 40318021 40318021 C T rs773112169 DYRK1B Synonymous SNV P333P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 109368 chr11 108043536 108043538 AGA - rs141989202 NPAT S726del 0.011 0.01 0.014 2 13 4 0.005 4 0 0 0 0 109369 chr11 108138003 108138003 T C rs1800056 ATM Nonsynonymous SNV F858L 0.01 0.01 0.017 2 12 4 0.005 5 0 0 0 0 Conflicting interpretations of pathogenicity 8.823 109370 chr9 131246276 131246276 G A rs746625116 ODF2 Synonymous SNV L268L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.12 109371 chr11 108381678 108381678 A C rs140766467 EXPH5 Nonsynonymous SNV L1331R 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 23.6 109372 chr11 10875080 10875080 C T ZBED5 Synonymous SNV L471L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 7.009 109373 chr19 41811583 41811583 G A rs781717921 HNRNPUL1 Synonymous SNV P666P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.89 109374 chr11 113222016 113222016 G A rs145279097 TTC12 Nonsynonymous SNV V410I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.486 109375 chr19 42383232 42383232 C T rs782389366 CD79A Synonymous SNV G84G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 109376 chr9 95846865 95846865 G A rs202035256 SUSD3 Nonsynonymous SNV V95M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.038 109377 chr11 124413439 124413439 C T rs201467230 OR8B12 Nonsynonymous SNV V38M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.225 109378 chr11 124742851 124742851 G A rs201010919 ROBO3 Nonsynonymous SNV V468M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28.1 109379 chr19 44116609 44116609 C A rs201742640 SRRM5 Nonsynonymous SNV H112Q 0.011 0.005 0.007 1 13 2 0.003 2 0 0 0 0 1.297 109380 chr19 44116617 44116631 GGGGCACACACAGCC - rs563391933 SRRM5 T117_G121del 0.011 0.005 0.007 1 13 2 0.003 2 0 0 0 0 109381 chr9 133942516 133942516 G A rs140540789 LAMC3 Synonymous SNV T839T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.17 109382 chr1 152484233 152484233 C T rs141558025 LCE5A Nonsynonymous SNV R75C 0 0 0 2 0 0 0.005 0 0 0 0 0 10.56 109383 chr9 133961026 133961026 G A rs147092908 LAMC3 Synonymous SNV R1382R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 14.12 109384 chr9 133961026 133961026 G C rs147092908 LAMC3 Nonsynonymous SNV R1382S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 109385 chr9 134346354 134346354 C T rs751758736 PRRC2B Synonymous SNV S697S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.41 109386 chr1 154744507 154744507 G A rs367863664 KCNN3 Synonymous SNV L464L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.92 109387 chrX 111025183 111025183 G A rs200308169 TRPC5 Nonsynonymous SNV R694C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 109388 chr11 105845075 105845075 C T rs138190986 GRIA4 Synonymous SNV G816G 0.01 0.01 0 5 12 4 0.013 0 0 0 0 0 13.93 109389 chr11 10624765 10624776 GGTGCTCACAGT - rs747974032 MRVI1 H274_H277del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 109390 chr11 108043265 108043265 T C rs34027029 NPAT Nonsynonymous SNV T816A 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.001 109391 chr1 156446896 156446896 G C rs759279321 MEF2D Nonsynonymous SNV P255A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 109392 chrX 122765665 122765665 T C rs368394995 THOC2 Synonymous SNV A785A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.618 109393 chr1 156504373 156504373 C T rs138503134 IQGAP3 Synonymous SNV A1220A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.66 109394 chrX 128694551 128694551 G A rs942721416 OCRL Synonymous SNV V249V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.83 109395 chr19 4538726 4538726 G A rs10412220 LRG1 Synonymous SNV G90G 0 0 0.007 0 0 0 0 2 0 0 0 0 7.376 109396 chr19 45430994 45430994 - ACA rs565656076 APOC1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 109397 chrX 135049587 135049587 C T rs201063329 MMGT1 Synonymous SNV E66E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.23 109398 chrX 135067809 135067809 G T rs367724979 SLC9A6 Nonsynonymous SNV A50S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 1.643 109399 chrX 135754192 135754192 T G rs1017941774 ARHGEF6 Nonsynonymous SNV I554L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22 109400 chrX 13612963 13612963 G A rs16979010 EGFL6 Nonsynonymous SNV E66K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 19.28 109401 chr1 158549277 158549277 C T rs41273507 OR10X1 Nonsynonymous SNV R138H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28 109402 chr9 139699377 139699377 G A rs767878379 CCDC183-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.38 109403 chr11 104761925 104761925 C T rs749654200 CASP12 Synonymous SNV K213K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.6 109404 chr11 114392710 114392710 A T rs540491301 NXPE1 Nonsynonymous SNV F400I 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 27.1 109405 chrX 150349648 150349648 C T rs770730574 GPR50 Synonymous SNV P531P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.02 109406 chr10 46970500 46970500 T G LOC102724488 Nonsynonymous SNV S105R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.694 109407 chr19 47729951 47729951 G A BBC3 Nonsynonymous SNV P50L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 109408 chr11 18735605 18735605 G A rs201705879 IGSF22 Nonsynonymous SNV P630L 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 23.1 109409 chr11 117352693 117352693 G C rs201186852 DSCAML1 Synonymous SNV V848V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 2.309 109410 chrX 153175639 153175639 G A rs138870391 ARHGAP4 Synonymous SNV S714S 0.006 0.01 0 4 7 4 0.01 0 2 0 0 2 5.434 109411 chr11 1251806 1251806 G A rs562331900 MUC5B Synonymous SNV T482T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 109412 chr11 19954969 19954969 G A rs766901417 NAV2 Synonymous SNV P329P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.713 109413 chr11 19961224 19961224 A C rs150119037 NAV2 Nonsynonymous SNV E620A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 109414 chr11 60703423 60703423 G A rs77148561 TMEM132A Nonsynonymous SNV V707I 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 13.44 109415 chr11 10874481 10874481 C T rs377651474 ZBED5 Nonsynonymous SNV R671Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 19.78 109416 chr11 118495758 118495758 C T PHLDB1 Nonsynonymous SNV P155L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 20.1 109417 chr10 48429298 48429298 T C rs782212243 GDF10 Synonymous SNV P196P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 109418 chr11 61053895 61053895 G A rs146572904 VWCE Synonymous SNV D144D 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 0.08 109419 chr11 613815 613815 G A rs755167282 IRF7 Nonsynonymous SNV P244S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.448 109420 chr11 2168745 2168745 G A rs186679205 IGF2-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 0.967 109421 chr9 15874637 15874637 C T rs113144812 CCDC171 Synonymous SNV G1200G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 109422 chr11 11959890 11959890 G A rs202054663 USP47 Nonsynonymous SNV V548I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.22 109423 chr11 128868341 128868341 G A rs374104637 ARHGAP32 Synonymous SNV L342L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 11.63 109424 chr1 172050980 172050980 A G rs368176135 DNM3 Synonymous SNV L477L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.409 109425 chr19 50385373 50385373 G A rs35008717 TBC1D17 Synonymous SNV L168L 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 10.48 109426 chr11 117056911 117056911 G A rs147408653 SIDT2 Nonsynonymous SNV V312I 0.007 0.005 0 2 8 2 0.005 0 1 0 0 0 7.748 109427 chr11 117074526 117074526 C T rs45508091 TAGLN Synonymous SNV T129T 0.008 0.005 0 2 9 2 0.005 0 1 0 0 0 17.12 109428 chr1 176833486 176833486 C G rs61758730 ASTN1 Nonsynonymous SNV R1281S 0.003 0.005 0 6 4 2 0.015 0 0 0 0 0 24.6 109429 chr19 50905911 50905911 G A rs199545019 POLD1 Nonsynonymous SNV V295M 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.16 109430 chr10 6008255 6008255 C T rs144173272 IL15RA Nonsynonymous SNV V10I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 109431 chr1 178421629 178421629 C T rs147872325 RASAL2 Synonymous SNV S469S 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 17.48 109432 chr1 178427559 178427559 G C rs144412569 RASAL2 Synonymous SNV V903V 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 Benign 7.467 109433 chrX 43655125 43655125 A G MAOB Nonsynonymous SNV F210S 0.003 0 0 0 3 0 0 0 1 0 0 0 32 109434 chr11 30953348 30953348 C A rs147574605 DCDC1 Nonsynonymous SNV G63V 0.005 0 0 0 6 0 0 0 0 0 0 0 25.3 109435 chr19 51206941 51206941 C T rs368400281 SHANK1 Nonsynonymous SNV A457T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 109436 chr10 61572526 61572526 G C CCDC6 Synonymous SNV P238P 0 0.008 0 0 0 3 0 0 0 0 0 0 9.458 109437 chr9 34257213 34257213 C A rs138289905 KIF24 Nonsynonymous SNV G798C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 109438 chr1 179311323 179311323 A G rs144255785 SOAT1 Synonymous SNV K227K 0.006 0.008 0.014 4 7 3 0.01 4 0 0 0 0 Benign 10.12 109439 chr9 34614106 34614106 G A rs775834355 DCTN3 Synonymous SNV G145G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.74 109440 chr11 32720870 32720870 C - rs747937954 CCDC73 G106Efs*9 0.003 0 0 0 3 0 0 0 0 0 0 0 109441 chr10 64382990 64382990 C T rs113542007 ZNF365 Nonsynonymous SNV T370M 0 0.008 0 1 0 3 0.003 0 0 0 0 0 13.64 109442 chr11 119045187 119045187 C T rs770376538 NLRX1 Nonsynonymous SNV P292L 0.007 0.008 0 1 8 3 0.003 0 1 0 0 0 23.2 109443 chr11 119065702 119065702 C T CCDC153 Nonsynonymous SNV A23T 0.007 0.008 0 1 8 3 0.003 0 1 0 0 0 16.39 109444 chrX 54476104 54476104 T C rs1126744 FGD1 Synonymous SNV P712P 0.025 0.01 0.034 14 29 4 0.036 10 6 1 3 5 Benign 0.002 109445 chrX 54476149 54476149 A G rs12011120 FGD1 Synonymous SNV T697T 0.026 0.01 0.041 14 30 4 0.036 12 7 1 4 5 Benign 0.019 109446 chr9 35810485 35810485 T C rs757636893 SPAG8 Nonsynonymous SNV H384R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 109447 chr19 51649233 51649233 C G SIGLEC7 Synonymous SNV T201T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 109448 chr11 64877197 64877197 C T rs61736623 VPS51 Synonymous SNV P560P 0.009 0.005 0.014 2 11 2 0.005 4 0 0 0 0 11.59 109449 chr11 64880743 64880743 C T rs11539360 TM7SF2 Nonsynonymous SNV A119V 0.009 0.005 0.014 2 11 2 0.005 4 0 0 0 0 4.632 109450 chrX 70595132 70595132 T C rs5981106 TAF1 Synonymous SNV T156T 0.018 0.013 0.014 6 21 5 0.015 4 4 1 2 2 0.31 109451 chrX 70627477 70627477 G A rs7050748 TAF1 Synonymous SNV S1387S 0.018 0.013 0.014 6 21 5 0.015 4 4 1 2 2 13.69 109452 chrX 70800682 70800682 G A rs73552708 GCNA Nonsynonymous SNV C4Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 109453 chr11 125365283 125365283 C A rs964920581 LOC403312 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.15 109454 chrX 70823952 70823952 C T rs74847303 GCNA Synonymous SNV P275P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.81 109455 chr10 71921484 71921484 C T rs41315006 SAR1A Synonymous SNV K23K 0.007 0.023 0.003 5 8 9 0.013 1 0 0 0 0 14.03 109456 chrX 75004044 75004044 C A rs189642713 MAGEE2 Nonsynonymous SNV W281C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 109457 chr9 71098912 71098912 C T rs200812025 PGM5 Nonsynonymous SNV T476M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 109458 chr10 72520525 72520525 G A rs61736608 ADAMTS14 Synonymous SNV T1196T 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 11.34 109459 chr11 115375030 115375035 AGCCGG - rs147879356 CADM1 R27_L28del 0.007 0.003 0.014 3 8 1 0.008 4 1 0 0 0 109460 chr1 200378195 200378195 C T rs776874047 ZNF281 Synonymous SNV K213K 0 0 0 2 0 0 0.005 0 0 0 0 0 8.652 109461 chr10 73056485 73056534 ACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCAC - UNC5B T816_T820del 0.001 0.01 0 0 1 4 0 0 0 0 0 0 109462 chrX 9912752 9912752 C T rs61741856 SHROOM2 Synonymous SNV D296D 0.019 0.013 0 8 22 5 0.021 0 6 1 0 3 15.18 109463 chr9 73477936 73477936 C T rs201266734 TRPM3 Nonsynonymous SNV R117Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 109464 chr1 200870282 200870282 G C INAVA Nonsynonymous SNV G172A 0 0 0 3 0 0 0.008 0 0 0 0 0 8.733 109465 chrX 99854149 99854149 A C rs34184212 TNMD Synonymous SNV A238A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.005 109466 chr11 117395779 117395779 G A rs143227689 DSCAML1 Synonymous SNV P226P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.351 109467 chr9 74974362 74974362 A T rs144844537 ZFAND5 Synonymous SNV T113T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 109468 chr10 74658648 74658648 C T rs149638646 OIT3 Synonymous SNV G96G 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 14.32 109469 chr10 101565157 101565157 A G rs17222561 ABCC2 Nonsynonymous SNV K495E 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 31 109470 chr10 101571355 101571355 C T rs780765144 ABCC2 Stop gain R655X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 109471 chr11 134055237 134055237 T C rs774349905 NCAPD3 Nonsynonymous SNV I606V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.532 109472 chr10 102766848 102766848 C T rs138441624 LZTS2 Nonsynonymous SNV R425W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 109473 chr10 104118273 104118273 C T rs41293034 GBF1 Synonymous SNV P266P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.05 109474 chr19 54245768 54245768 C G rs148716001 MIR520H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.311 109475 chr9 91926234 91926234 G T rs141662758 CKS2 Synonymous SNV S9S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 109476 chr11 48134530 48134530 G T PTPRJ Nonsynonymous SNV S116I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 109477 chr11 1276006 1276006 G A rs201530874 MUC5B Nonsynonymous SNV R5187H 0.006 0.005 0.017 2 7 2 0.005 5 0 0 1 0 Benign 12.08 109478 chr11 17653763 17653763 T C rs7114549 OTOG Synonymous SNV S2366S 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 5.182 109479 chr11 3129103 3129103 G A rs147555918 OSBPL5 Nonsynonymous SNV P187L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.33 109480 chr10 91404534 91404534 G A PANK1 Nonsynonymous SNV P176S 0 0.008 0 1 0 3 0.003 0 0 0 0 0 6.643 109481 chr19 55526458 55526458 G A rs762526564 GP6 Nonsynonymous SNV A266V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.954 109482 chr10 93811984 93811984 C G rs147278295 CPEB3 Synonymous SNV P680P 0.002 0.01 0 0 2 4 0 0 0 0 0 0 8.929 109483 chr1 206681149 206681149 C T rs142795603 RASSF5 Nonsynonymous SNV P72S 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 7.193 109484 chr11 33721867 33721867 C A C11orf91 Nonsynonymous SNV E140D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 109485 chr11 34110991 34110991 A T CAPRIN1 Synonymous SNV P427P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.749 109486 chr1 207075417 207075417 G A IL24 Nonsynonymous SNV S61N 0 0 0 3 0 0 0.008 0 0 0 0 0 4.614 109487 chr19 5560812 5560812 G C rs10451477 TINCR 0 0 0.071 0 0 0 0 21 0 0 4 0 1.483 109488 chr11 20668480 20668480 C T rs144357826 SLC6A5 Synonymous SNV T456T 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 Benign/Likely benign 6.345 109489 chr1 207760906 207760906 T C rs61734513 CR1 Synonymous SNV C1452C 0.016 0.013 0.014 13 19 5 0.033 4 0 0 0 0 0.094 109490 chr11 2189756 2189756 A G rs147569564 TH Nonsynonymous SNV V151A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.931 109491 chr11 17464326 17464326 G A rs765028814 ABCC8 Nonsynonymous SNV T524M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.67 109492 chr1 209953889 209953889 G C rs374219691 TRAF3IP3 Nonsynonymous SNV D463H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24 109493 chr11 71948802 71948802 C T rs200602515 INPPL1 Nonsynonymous SNV R1172C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 23.4 109494 chr1 210856989 210856989 C T rs1135318 KCNH1 Synonymous SNV A841A 0.001 0.01 0.007 4 1 4 0.01 2 0 0 0 0 Benign 7.969 109495 chr19 5592769 5592769 G A rs138974953 SAFB2 Synonymous SNV H779H 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 7.46 109496 chr10 120353994 120353994 G T rs370835454 PRLHR Nonsynonymous SNV R255S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 109497 chr11 44331288 44331293 GCTGCG - rs778909542 ALX4 P107_Q108del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 109498 chr11 4903811 4903811 C T rs149770343 OR51T1 Synonymous SNV L228L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 109499 chr1 216074169 216074169 C T rs368681648 USH2A Nonsynonymous SNV R2460H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 109500 chr11 3109526 3109526 G C OSBPL5 Nonsynonymous SNV P782R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.79 109501 chr11 20119222 20119222 G A rs146720224 NAV2 Nonsynonymous SNV E1102K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.1 109502 chr11 46766098 46766098 C T rs565252536 CKAP5 Nonsynonymous SNV V1852M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.37 109503 chr10 125805631 125805631 G A rs34639461 CHST15 Nonsynonymous SNV A33V 0.009 0.003 0.01 5 11 1 0.013 3 0 0 0 0 16.33 109504 chr1 223900562 223900562 G A rs142691066 CAPN2 Nonsynonymous SNV E74K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.5 109505 chr10 128193341 128193341 G A rs144072115 C10orf90 Nonsynonymous SNV T143M 0.005 0 0.007 0 6 0 0 2 0 0 0 0 31 109506 chr11 5410894 5410894 C T rs192486764 OR51M1 Nonsynonymous SNV T89M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 109507 chrX 152612557 152612557 T C rs371573618 ZNF275 Synonymous SNV F138F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 109508 chr19 57967305 57967305 C G rs150122364 VN1R1 Nonsynonymous SNV A184P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 109509 chr1 226044391 226044391 G A rs140423726 TMEM63A Synonymous SNV I511I 0.006 0.008 0 3 7 3 0.008 0 1 0 0 0 16.39 109510 chr19 58153093 58153093 T C rs370520560 ZNF211 Synonymous SNV I352I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.989 109511 chr11 5529726 5529726 A G rs772182724 UBQLN3 Nonsynonymous SNV S355P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.49 109512 chr11 3069087 3069087 G A rs770452949 CARS1 Nonsynonymous SNV P57L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 109513 chr10 134693026 134693026 G A rs573926112 CFAP46 Synonymous SNV R1303R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.217 109514 chr11 4608829 4608829 G A OR52I2 Nonsynonymous SNV A263T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.7 109515 chrX 37658258 37658258 C G CYBB Nonsynonymous SNV T242R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 109516 chrX 49076195 49076203 TCTTCCTCT - rs59355923 CACNA1F E812_E814del 0.001 0.005 0 0 1 2 0 0 0 1 0 0 109517 chrX 53565407 53565407 G A HUWE1 Nonsynonymous SNV R3963C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 109518 chr11 407871 407871 G A rs746732229 SIGIRR Nonsynonymous SNV R143C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 109519 chrX 55028691 55028691 C T rs61752443 APEX2 Synonymous SNV A83A 0.014 0.01 0.01 4 16 4 0.01 3 3 1 1 1 Benign 11.52 109520 chr11 94759940 94759940 T G rs143234858 KDM4E Nonsynonymous SNV F407V 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 0.732 109521 chr1 237054462 237054462 G A MTR Nonsynonymous SNV A962T 0 0.003 0 5 0 1 0.013 0 0 0 0 0 25.9 109522 chr1 237656365 237656365 C T rs202040519 RYR2 Nonsynonymous SNV R647C 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 34 109523 chr11 1078370 1078370 C T rs374977420 MUC2 Synonymous SNV S219S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.94 109524 chr19 7977268 7977268 G T rs201101315 MAP2K7 Synonymous SNV P411P 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 Benign 10.2 109525 chr12 101777044 101777044 C T rs752995039 UTP20 Nonsynonymous SNV R2628W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 109526 chr10 28970425 28970425 T C rs146990085 BAMBI Synonymous SNV N105N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.141 109527 chr12 104089586 104089586 C T rs17034395 STAB2 Synonymous SNV I1182I 0.01 0.01 0.007 1 12 4 0.003 2 0 0 0 0 19.58 109528 chr19 8563533 8563533 A G rs138042924 PRAM1 Nonsynonymous SNV S387P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 23.9 109529 chr19 8587708 8587708 C A rs201832487 MYO1F Nonsynonymous SNV D950Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.2 109530 chr10 32745217 32745217 G A rs142093528 CCDC7 Synonymous SNV S137S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.009 109531 chr1 248039789 248039789 T C rs148369481 TRIM58 X487Q 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 13.09 109532 chr12 10961921 10961921 T C TAS2R9 Nonsynonymous SNV T252A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 109533 chr11 56020234 56020234 A G rs750432294 OR5T3 Nonsynonymous SNV T187A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 109534 chr10 108339103 108339103 G A rs374907463 SORCS1 Nonsynonymous SNV S1132F 0.008 0.021 0 3 9 8 0.008 0 0 0 0 0 0.093 109535 chr12 112481511 112481511 C T rs79907395 NAA25 Nonsynonymous SNV R723Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 23.4 109536 chr1 249141785 249141785 C T rs369735418 ZNF672 Synonymous SNV C104C 0.003 0 0 6 3 0 0.015 0 0 0 0 0 12.47 109537 chr11 58477398 58477398 C T rs114888117 GLYAT Synonymous SNV T244T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 109538 chr11 55606537 55606537 T - rs764115061 OR5D16 F105Sfs*6 0.003 0 0 1 3 0 0.003 0 0 0 0 0 109539 chr11 55606543 55606543 T C rs772545505 OR5D16 Nonsynonymous SNV F106L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 109540 chr2 8877034 8877034 C T rs778342992 KIDINS220 Synonymous SNV Q1171Q 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.04 109541 chr11 58711100 58711100 A G rs145329553 GLYATL1 Nonsynonymous SNV I37V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 109542 chr11 58920170 58920170 G A rs758780643 FAM111A Synonymous SNV S343S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 6.312 109543 chr10 11911741 11911741 C T rs202165239 PROSER2 Nonsynonymous SNV S215F 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 Likely benign 19.91 109544 chr2 11728942 11728942 C T rs754551027 GREB1 Synonymous SNV C410C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.75 109545 chr2 11750832 11750832 C T rs62118319 GREB1 Synonymous SNV S895S 0.002 0.008 0.007 3 2 3 0.008 2 0 0 0 0 16.78 109546 chr2 11765378 11765378 G A rs200908374 GREB1 Nonsynonymous SNV D1416N 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 32 109547 chr11 5989594 5989594 G A rs749176682 OR56A5 Nonsynonymous SNV A44V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.974 109548 chr10 60148451 60148451 G A rs537283161 TFAM Nonsynonymous SNV A105T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 109549 chr12 121017628 121017628 C T rs150135150 POP5 Nonsynonymous SNV E88K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 109550 chr10 61574457 61574457 T C rs141545336 CCDC6 Synonymous SNV L213L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.57 109551 chr10 61846511 61846511 C T rs11553750 ANK3 Synonymous SNV P358P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 109552 chr10 124221276 124221276 G C rs2293870 HTRA1 Synonymous SNV G36G 0.009 0.005 0.007 2 10 2 0.005 2 4 0 1 1 Benign/Likely benign 7.619 109553 chr11 1271949 1271949 C A MUC5B Synonymous SNV L4613L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.299 109554 chr10 70706386 70706386 A G DDX50 X738W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 109555 chr2 26700316 26700316 G A rs148532589 OTOF Nonsynonymous SNV R102W 0.003 0.003 0.01 7 3 1 0.018 3 0 0 0 0 Conflicting interpretations of pathogenicity 33 109556 chr11 62301133 62301133 C T rs151020049 AHNAK Synonymous SNV K252K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.15 109557 chr10 132891465 132891465 C T rs139123582 TCERG1L Nonsynonymous SNV R574Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 33 109558 chr1 110301990 110301990 C T rs753148902 EPS8L3 Nonsynonymous SNV R58H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23 109559 chr1 110466555 110466555 G A rs2229165 CSF1 Nonsynonymous SNV G438R 0.012 0.005 0.01 1 14 2 0.003 3 0 0 0 0 0.369 109560 chr1 111031974 111031974 A G rs1857515 CYMP-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.386 109561 chr10 73453990 73453990 C T rs181255269 CDH23 Nonsynonymous SNV H755Y 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 109562 chr10 73461805 73461805 G A rs76601590 CDH23 Synonymous SNV G808G 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 6.92 109563 chr10 73498344 73498344 T A rs12218559 CDH23 Synonymous SNV P1433P 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 Benign 1.669 109564 chr12 128899675 128899675 G A rs142699896 TMEM132C Nonsynonymous SNV G162S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 109565 chr2 28843148 28843148 G A rs117512489 PLB1 Nonsynonymous SNV R1100Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 19.54 109566 chr12 130830332 130830332 G A rs374469378 PIWIL1 Synonymous SNV S75S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.05 109567 chr10 75407634 75407634 C T rs770534757 SYNPO2L Synonymous SNV A368A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.71 109568 chr1 113197143 113197143 C G rs371346893 CAPZA1 Nonsynonymous SNV N92K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 109569 chr11 592621 592621 C T rs778992989 PHRF1 Synonymous SNV C189C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.26 109570 chr10 13541911 13541911 G C rs148828275 BEND7 Synonymous SNV A53A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.247 109571 chr10 13541912 13541912 G T rs147003029 BEND7 Nonsynonymous SNV A53D 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 109572 chr1 115398190 115398190 C T rs749176245 SYCP1 Synonymous SNV F35F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 109573 chr12 132625875 132625875 C T rs753396232 DDX51 Nonsynonymous SNV A399T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.003 109574 chr2 31348076 31348076 G A rs41280621 GALNT14 Nonsynonymous SNV A58V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.002 109575 chr10 79613260 79613260 C T rs775580285 DLG5 Nonsynonymous SNV R239Q 0.002 0 0 0 2 0 0 0 0 0 0 0 17.49 109576 chr1 11595087 11595087 C T rs41274536 DISP3 Synonymous SNV C1185C 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 13.14 109577 chr1 116310937 116310937 C T rs10801999 CASQ2 Nonsynonymous SNV V76M 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign/Likely benign 24.8 109578 chr10 85958847 85958847 C T rs148125234 CDHR1 Synonymous SNV I136I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.65 109579 chr10 18254599 18254599 C T rs7899328 SLC39A12 Nonsynonymous SNV T110M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.3 109580 chr12 133353338 133353338 T G GOLGA3 Nonsynonymous SNV E1287A 0.002 0 0 0 2 0 0 0 0 0 0 0 31 109581 chr2 37475458 37475458 G A rs375381397 NDUFAF7 Nonsynonymous SNV V333I 0 0 0 3 0 0 0.008 0 0 0 0 0 20.6 109582 chr11 65387012 65387012 C T rs57318451 PCNX3 Synonymous SNV A570A 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 12.99 109583 chr10 91066038 91066038 C T rs201921113 IFIT2 Stop gain R109X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 109584 chr1 11856455 11856455 A G MTHFR Synonymous SNV G237G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 109585 chr11 65417436 65417436 G T rs72556578 SIPA1 Nonsynonymous SNV G921V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.2 109586 chr2 43451739 43451739 - CTG rs556928050 ZFP36L2 Q401_G402insQ 0.002 0 0 4 2 0 0.01 0 0 0 0 0 109587 chr11 65545913 65545913 G A rs56798161 AP5B1 Nonsynonymous SNV P684L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.72 109588 chr2 43657394 43657394 A G THADA Nonsynonymous SNV F1295S 0 0 0 3 0 0 0.008 0 0 0 0 0 32 109589 chr11 65562728 65562728 G C rs35194319 OVOL1 Synonymous SNV P240P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.175 109590 chr10 29839597 29839597 G A rs201747767 SVIL Synonymous SNV S252S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.111 109591 chr2 44065739 44065739 C G rs56204478 ABCG5 Nonsynonymous SNV G27A 0.004 0 0.003 7 5 0 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.429 109592 chr2 46707808 46707808 - AGCGGCAGCACGAGGTGGTGATGGAGCAGCCGCAGCGGG TMEM247 Q137_L138insPQRERQHEVVMEQ 0.01 0.003 0.003 4 12 1 0.01 1 1 0 0 0 109593 chr2 47601104 47601104 C T rs200495968 EPCAM Synonymous SNV S114S 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 15.6 109594 chr11 62494434 62494434 G A rs376882579 HNRNPUL2 Synonymous SNV A65A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.05 109595 chr10 96066247 96066247 G A rs374201007 PLCE1 Nonsynonymous SNV V1588I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 109596 chr10 31134257 31134257 C T rs779189750 ZNF438 Nonsynonymous SNV R707K 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 109597 chr10 97144032 97144032 T C rs73319274 SORBS1 Synonymous SNV S247S 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 6.948 109598 chr2 55074632 55074632 C G EML6 Nonsynonymous SNV S353R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.9 109599 chr1 145515287 145515287 G C rs41302087 GNRHR2 0 0 0.031 0 0 0 0 9 0 0 0 0 6.485 109600 chr11 60183554 60183554 G A rs757350678 MS4A14 Synonymous SNV L354L 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 1.143 109601 chr11 60506386 60506386 C T rs200118062 MS4A18 Synonymous SNV S218S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.727 109602 chr11 60531244 60531244 T G MS4A15 Nonsynonymous SNV V13G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 109603 chr11 36597425 36597425 C T rs141560248 RAG1 Synonymous SNV A857A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.98 109604 chr12 27950769 27950769 G T rs145908611 KLHL42 Synonymous SNV V396V 0.003 0 0 0 3 0 0 0 0 0 0 0 2.027 109605 chr11 64067889 64067889 G A rs45572341 CATSPERZ Nonsynonymous SNV E3K 0.009 0.013 0.003 2 11 5 0.005 1 0 0 0 0 19.03 109606 chr11 1016588 1016588 G C rs780182809 MUC6 Synonymous SNV T2071T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.647 109607 chr11 1016594 1016594 A G rs137864916 MUC6 Synonymous SNV S2069S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.314 109608 chr11 1016604 1016604 A G rs148590913 MUC6 Nonsynonymous SNV V2066A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 109609 chr11 1016605 1016605 C G rs147913342 MUC6 Nonsynonymous SNV V2066L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.041 109610 chr11 40136040 40136040 G A rs200916477 LRRC4C Synonymous SNV Y601Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 109611 chr11 1016606 1016606 T C rs148905794 MUC6 Synonymous SNV T2065T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.203 109612 chr11 1016614 1016614 G T rs148793744 MUC6 Nonsynonymous SNV P2063T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.513 109613 chr11 1016618 1016618 G C rs151061093 MUC6 Synonymous SNV A2061A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.771 109614 chr11 67815027 67815027 C T rs372063415 TCIRG1 Synonymous SNV A215A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.77 109615 chr11 61048515 61048515 G A rs758526725 VWCE Nonsynonymous SNV T327I 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 9.903 109616 chr11 43904281 43904281 G A rs371627856 ALKBH3 Nonsynonymous SNV A27T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 109617 chr12 32145333 32145333 C G rs773678678 RESF1 Nonsynonymous SNV S1703W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 109618 chr2 70123669 70123669 G A rs139699067 SNRNP27 Nonsynonymous SNV R86Q 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 24.2 109619 chr12 3736668 3736668 G A rs151337991 CRACR2A Synonymous SNV I622I 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 14.43 109620 chr11 62105473 62105473 C T rs143657589 ASRGL1 Synonymous SNV H8H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.23 109621 chr11 65346886 65346886 C G rs189053067 EHBP1L1 Nonsynonymous SNV D79E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 109622 chr10 50819950 50819950 C T rs778397784 SLC18A3 Synonymous SNV C388C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.418 109623 chr11 71260059 71260059 C T rs267603173 KRTAP5-9 Nonsynonymous SNV S119L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.11 109624 chr1 15440831 15440831 T C rs74757967 TMEM51-AS1 0 0 0.017 0 0 0 0 5 0 0 1 0 1.298 109625 chr11 71949117 71949117 G T rs201051695 INPPL1 Nonsynonymous SNV G1195V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 19.67 109626 chr10 5435602 5435602 C T rs150318613 TUBAL3 Nonsynonymous SNV A367T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 109627 chr11 73141763 73141763 G A rs148626628 FAM168A Synonymous SNV Y41Y 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 5.747 109628 chr11 60701067 60701067 C T rs369347951 TMEM132A Synonymous SNV A471A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.772 109629 chr1 155298034 155298034 G T rs781039998 RUSC1 Nonsynonymous SNV E361D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 109630 chr11 65829457 65829457 G A rs72932689 SF3B2 Synonymous SNV S655S 0.014 0.013 0.003 7 17 5 0.018 1 0 0 0 0 14.25 109631 chr11 64088252 64088252 G T rs142314160 PRDX5 Nonsynonymous SNV K97N 0.004 0.003 0.014 4 5 1 0.01 4 0 0 0 0 0.93 109632 chr11 76371446 76371446 G A rs138665218 LRRC32 Synonymous SNV A287A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.658 109633 chr2 88926733 88926735 CAG - EIF2AK3 L21del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 109634 chr11 76868392 76868392 A G rs184866544 MYO7A Nonsynonymous SNV K268R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.69 109635 chr2 97020068 97020068 G A rs61754144 NCAPH Nonsynonymous SNV V248I 0.015 0.021 0.01 8 18 8 0.021 3 1 0 0 0 Likely benign 5.873 109636 chr11 102221633 102221633 T C rs182906329 BIRC2 Synonymous SNV S318S 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 0.727 109637 chr1 15755186 15755186 C T rs376064207 EFHD2 Nonsynonymous SNV A230V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 109638 chr11 66627483 66627483 C T rs3802743 LRFN4 Synonymous SNV S575S 0.009 0.008 0.014 5 11 3 0.013 4 0 0 0 0 7.476 109639 chr11 67134970 67134970 G T rs757479653 CLCF1 Synonymous SNV R38R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.48 109640 chr11 65270091 65270091 - T MALAT1, TALAM1 0.001 0 0 0 1 0 0 0 0 0 0 0 109641 chr11 6238691 6238691 C T rs202172236 FAM160A2 Nonsynonymous SNV E709K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 109642 chr12 52642409 52642409 C T rs61914217 KRT7 Synonymous SNV G425G 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 Benign 14.66 109643 chr11 62415372 62415372 G A INTS5 Nonsynonymous SNV S727F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.36 109644 chr1 158592871 158592871 C T rs755159500 SPTA1 Nonsynonymous SNV E2008K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 109645 chr11 77920856 77920856 C - rs764735138 USP35 T655Pfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 109646 chr11 103104836 103104836 G T rs375970384 DYNC2H1 Nonsynonymous SNV A3172S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 109647 chr12 53186522 53186522 G A rs144405688 KRT3 Synonymous SNV I332I 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 Benign 12.58 109648 chr1 160209867 160209867 G A rs377306445 DCAF8 Nonsynonymous SNV R115W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 109649 chr10 73453966 73453966 C T rs200649500 CDH23 Nonsynonymous SNV R747C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.9 109650 chr1 16069103 16069103 C G rs770833105 TMEM82 Nonsynonymous SNV L17V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 109651 chr11 111386775 111386775 C T rs61751529 C11orf88 Synonymous SNV D93D 0.008 0 0 0 9 0 0 0 0 0 0 0 5.596 109652 chr1 16096923 16096923 C G rs773544165 FBLIM1 Nonsynonymous SNV H90Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 109653 chr11 113269792 113269792 C A rs34298987 ANKK1 Nonsynonymous SNV H367Q 0.017 0.021 0.01 5 20 8 0.013 3 0 0 0 0 23 109654 chr1 161771986 161771986 C T rs138997959 ATF6 Nonsynonymous SNV A278V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.82 109655 chr11 6651953 6651953 C T rs184586428 DCHS1 Nonsynonymous SNV E1358K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.48 109656 chr1 16451737 16451737 C G rs138818894 EPHA2 Nonsynonymous SNV Q914H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.46 109657 chr11 66949323 66949323 G A rs754046694 KDM2A Synonymous SNV P89P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.56 109658 chr10 76857569 76857569 G T rs148137334 DUSP13 Nonsynonymous SNV P75Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 109659 chr11 73996972 73996972 T C rs766557482 P4HA3 Nonsynonymous SNV Y331C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 109660 chr10 76924472 76924472 C G rs190921957 SAMD8 Synonymous SNV L216L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 109661 chr12 55420918 55420918 T C rs34426727 NEUROD4 Nonsynonymous SNV L232S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.39 109662 chr11 94352981 94352981 G A rs766849717 PIWIL4 Nonsynonymous SNV E742K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 109663 chr1 169582318 169582318 G A rs781066002 SELP Synonymous SNV H208H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.164 109664 chr1 169586577 169586577 C T rs7529463 SELP Nonsynonymous SNV R57H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.3 109665 chr11 6591963 6591963 A G rs770396021 DNHD1 Synonymous SNV R4407R 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.3 109666 chr12 57110978 57110978 C A NACA Nonsynonymous SNV A1446S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 109667 chr2 135888198 135888198 A G rs145134603 RAB3GAP1 Synonymous SNV S381S 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 7.401 109668 chr10 90762938 90762938 G A rs3218613 FAS Synonymous SNV K61K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 2.841 109669 chr11 64121209 64121209 C T rs138652134 CCDC88B Nonsynonymous SNV R1286C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 109670 chr1 171130591 171130594 ACAC - rs3841668 FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 109671 chr12 101603524 101603524 C A rs117927891 SLC5A8 Nonsynonymous SNV A35S 0.013 0.01 0.007 1 15 4 0.003 2 0 0 0 0 23 109672 chr2 138414718 138414718 G A rs147732921 THSD7B Nonsynonymous SNV V1455I 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 16.17 109673 chr2 141751676 141751676 T C rs147402550 LRP1B Nonsynonymous SNV I844M 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 8.054 109674 chr11 66625623 66625623 G A rs146995687 LRFN4 Synonymous SNV A136A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.229 109675 chr2 145156524 145156524 T C rs112005830 ZEB2 Nonsynonymous SNV I720V 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 Benign/Likely benign 7.761 109676 chr12 58179983 58179983 G A rs371076990 TSFM Nonsynonymous SNV G90D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 31 109677 chr11 64799933 64799933 C A rs150458436 SNX15 Nonsynonymous SNV R56S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 109678 chr11 73796902 73796902 T C rs78878933 C2CD3 Nonsynonymous SNV Q1224R 0.019 0.005 0.014 3 22 2 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 11.27 109679 chr12 64521471 64521471 C T rs115771292 SRGAP1 Nonsynonymous SNV P813L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 109680 chr11 6789658 6789658 C A rs79701895 OR2AG2 Synonymous SNV L177L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.21 109681 chr11 85436008 85436008 C T rs1015963930 SYTL2 Nonsynonymous SNV A1465T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.373 109682 chr12 65110530 65110530 A G rs2230292 GNS Synonymous SNV H550H 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.004 109683 chr1 17764879 17764879 G A rs746455650 RCC2 Synonymous SNV S44S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 109684 chr11 123900866 123900866 T C rs28711441 OR10G8 Synonymous SNV D179D 0.009 0.005 0.02 6 11 2 0.015 6 0 0 0 0 0.008 109685 chr10 98369563 98369563 T C rs141067860 PIK3AP1 Synonymous SNV G692G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.927 109686 chr11 123909302 123909302 G C rs513591 OR10G7 Nonsynonymous SNV T136S 0.01 0.008 0.02 6 12 3 0.015 6 0 0 0 0 0.001 109687 chr10 99006061 99006061 G A rs145032100 ARHGAP19 Nonsynonymous SNV H292Y 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 10.16 109688 chr1 179478524 179478524 C T rs377116568 AXDND1 Nonsynonymous SNV R828W 0 0.003 0.007 0 0 1 0 2 0 0 0 0 18.39 109689 chr12 108620767 108620767 G A rs749701391 WSCD2 Nonsynonymous SNV E269K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 109690 chr11 7663645 7663645 A G rs781060258 PPFIBP2 Nonsynonymous SNV K402R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 109691 chr11 70263180 70263180 G A rs780452438 CTTN Synonymous SNV A173A 0.004 0.013 0 0 5 5 0 0 0 0 0 0 6.551 109692 chr11 7688975 7688975 A G CYB5R2 Nonsynonymous SNV L181P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 109693 chr11 92532829 92532829 G A rs369227298 FAT3 Nonsynonymous SNV G2217D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 18.5 109694 chr2 166848840 166848840 G A rs148546224 SCN1A Synonymous SNV L1649L 0 0.003 0.014 3 0 1 0.008 4 0 0 0 0 Benign/Likely benign 9.283 109695 chr12 110783833 110783833 G A rs369415132 ATP2A2 Synonymous SNV R923R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.822 109696 chr11 66468403 66468403 C T rs374715276 SPTBN2 Nonsynonymous SNV R1056H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 109697 chr11 67052769 67052769 C T rs139224817 GRK2 Synonymous SNV L640L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.268 109698 chr1 186370281 186370281 C G rs180959681 OCLM Nonsynonymous SNV S35C 0 0 0.024 0 0 0 0 7 0 0 0 0 9.763 109699 chr12 112374514 112374514 G A rs372986676 TMEM116 Synonymous SNV L155L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 109700 chr11 129762673 129762673 G A rs139240998 NFRKB Synonymous SNV R37R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.589 109701 chr2 175436496 175436496 G A rs149434153 WIPF1 Nonsynonymous SNV P346L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Likely benign 22.7 109702 chr12 102164853 102164853 T G GNPTAB Nonsynonymous SNV K285T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 109703 chr12 10313497 10313497 T C rs1049112315 OLR1 Nonsynonymous SNV H151R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.6 109704 chr2 178096281 178096281 T C rs757675832 NFE2L2 Synonymous SNV T320T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.046 109705 chr11 132200049 132200049 G A rs201653643 NTM Nonsynonymous SNV V313M 0.008 0.008 0.003 0 9 3 0 1 1 0 0 0 Likely benign 23 109706 chr11 8934006 8934006 G T rs755501774 AKIP1 Stop gain E77X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 40 109707 chr12 85431960 85431960 C T rs761010014 LRRIQ1 Synonymous SNV D2D 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 8.215 109708 chr12 8628727 8628727 A G CLEC6A Nonsynonymous SNV I96V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 20.9 109709 chr12 104373677 104373677 C A rs758388260 TDG Nonsynonymous SNV P79T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.01 109710 chr12 8629956 8629956 T C rs778830183 CLEC6A Nonsynonymous SNV C146R 0.003 0 0 0 4 0 0 0 0 0 0 0 24 109711 chr11 15170713 15170713 G A rs201102398 INSC Nonsynonymous SNV G45E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 109712 chr11 77907541 77907541 C G USP35 Nonsynonymous SNV R84G 0.004 0.016 0 0 5 6 0 0 0 0 0 0 13.57 109713 chr2 179429612 179429612 A G rs186273940 TTN Nonsynonymous SNV S18018P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.76 109714 chr11 92914881 92914881 A G rs146835691 SLC36A4 Nonsynonymous SNV L9P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 29.7 109715 chr11 17132091 17132091 C A rs150475903 PIK3C2A Synonymous SNV R764R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 109716 chr12 10875524 10875524 C T YBX3 Nonsynonymous SNV A63T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.01 109717 chr11 801035 801035 G C PIDD1 Synonymous SNV V572V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.067 109718 chr2 179479657 179479657 G C TTN Nonsynonymous SNV A7161G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.4 109719 chr12 109017547 109017547 C T rs149895290 SELPLG Synonymous SNV T195T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.8 109720 chr12 109539784 109539784 G A rs140301639 UNG Synonymous SNV R162R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.85 109721 chr11 17578848 17578848 G A rs570688276 OTOG Synonymous SNV K293K 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign/Likely benign 12.22 109722 chr11 9459831 9459831 C T rs144109761 IPO7 Synonymous SNV T898T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.321 109723 chr11 18303597 18303597 G A rs75482179 HPS5 Nonsynonymous SNV R963W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 109724 chr1 202704702 202704702 C T rs79276090 KDM5B Nonsynonymous SNV R1048Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 109725 chr12 12514201 12514201 C T BORCS5 Synonymous SNV G21G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.56 109726 chr2 186655615 186655615 G T rs772195308 FSIP2 Nonsynonymous SNV S1251I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.4 109727 chr11 20623013 20623013 C G rs61736605 SLC6A5 Synonymous SNV P114P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 10.78 109728 chr13 109792771 109792771 C T rs561166160 MYO16 Nonsynonymous SNV A1404V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.92 109729 chr12 10780264 10780264 G C rs151245563 STYK1 Nonsynonymous SNV I231M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.58 109730 chr1 205901846 205901846 A G SLC26A9 Synonymous SNV V120V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 109731 chr1 20637143 20637143 G A rs755686394 VWA5B1 Nonsynonymous SNV A17T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 109732 chr2 189867733 189867733 A G rs371344739 COL3A1 Nonsynonymous SNV K833R 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 21 109733 chr1 206650084 206650084 G A IKBKE Nonsynonymous SNV V117M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 109734 chr12 132405693 132405693 G A rs202232188 ULK1 Nonsynonymous SNV V1004I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 109735 chr12 132839121 132839121 G A rs59683276 GALNT9 Synonymous SNV S170S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 14.81 109736 chr11 62123886 62123886 G T rs201870863 ASRGL1 Nonsynonymous SNV A94S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 21.9 109737 chr12 121858059 121858059 C T RNF34 Synonymous SNV I24I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.56 109738 chr11 3111851 3111851 - GCT rs774584562 OSBPL5 S710_G711insS 0.001 0 0 0 1 0 0 0 0 0 0 0 109739 chr12 122252110 122252110 C T rs1048047340 SETD1B Synonymous SNV T663T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.38 109740 chr11 31811463 31811463 T - PAX6 K244Rfs*29 0.003 0 0 1 3 0 0.003 0 0 0 0 0 109741 chr12 122685403 122685403 C T rs372034959 LRRC43 Synonymous SNV A577A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.62 109742 chr1 212798260 212798260 G A rs150185683 FAM71A Nonsynonymous SNV S14N 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 10.43 109743 chr11 62760712 62760712 G C rs770769815 SLC22A8 Nonsynonymous SNV S419R 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 109744 chr11 33773091 33773091 T G rs751855449 FBXO3 Nonsynonymous SNV I263L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 109745 chr1 213058700 213058700 T G rs149834738 FLVCR1 Nonsynonymous SNV I386M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 15.57 109746 chr11 93494811 93494811 G A rs148498341 C11orf54 Nonsynonymous SNV R233H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 109747 chr11 34477737 34477737 C T rs373984976 CAT Synonymous SNV F297F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 109748 chr11 94910926 94910926 G A rs145434950 SESN3 Nonsynonymous SNV R263C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 34 109749 chr2 206305185 206305185 G C PARD3B Nonsynonymous SNV D876H 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 109750 chr12 124957628 124957628 G A rs369337188 NCOR2 Nonsynonymous SNV P154L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.11 109751 chr13 28942717 28942719 ATG - rs112404448 FLT1 Stop gain S733del 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 109752 chr11 373799 373799 G A rs374809392 B4GALNT4 Nonsynonymous SNV D252N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 109753 chr1 217804722 217804722 T C rs147297747 SPATA17 Star tloss M1? 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 109754 chr11 397151 397151 G A rs374950895 PKP3 Nonsynonymous SNV R217H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.9 109755 chr1 218458753 218458753 C T rs34358288 RRP15 Nonsynonymous SNV A32V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 13.76 109756 chr1 21938535 21938535 T A rs759618497 RAP1GAP Nonsynonymous SNV Y263F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 109757 chr13 31724271 31724271 T C rs150234276 HSPH1 Synonymous SNV V243V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.087 109758 chr11 43964571 43964571 C T rs192957735 C11orf96 Synonymous SNV P39P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.28 109759 chr12 132334403 132334403 G A rs140213729 MMP17 Nonsynonymous SNV V421I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.717 109760 chr2 211018643 211018643 C T rs144940906 KANSL1L Nonsynonymous SNV A222T 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 19.19 109761 chr1 22201465 22201465 C T HSPG2 Synonymous SNV V1112V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 109762 chr11 12257789 12257789 C G rs3794084 MICAL2 Nonsynonymous SNV D687E 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 0.002 109763 chr12 110906720 110906720 G C rs368560327 FAM216A Nonsynonymous SNV G14R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.8 109764 chr2 214204920 214204920 A G rs373792083 SPAG16 Synonymous SNV K190K 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 5.933 109765 chr12 111336860 111336860 G A rs148044780 CCDC63 Nonsynonymous SNV A346T 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 23.1 109766 chr13 37583812 37583812 A G rs9594185 SUPT20H Synonymous SNV F779F 0.023 0.018 0.031 13 27 7 0.033 9 1 0 0 0 0.02 109767 chr12 111342426 111342426 G A rs141920499 CCDC63 Synonymous SNV L380L 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 7.151 109768 chr2 214878768 214878768 A G rs200607672 SPAG16 Synonymous SNV A498A 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 1.51 109769 chr11 64879504 64879504 G A rs775514606 TM7SF2 Nonsynonymous SNV G6D 0 0.008 0 1 0 3 0.003 0 0 0 0 0 13.27 109770 chr11 4623587 4623587 C T rs150937700 TRIM68 Nonsynonymous SNV R193Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.03 109771 chr12 133249770 133249770 T C POLE Nonsynonymous SNV I485V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 109772 chr12 111748263 111748263 C T rs199689266 CUX2 Synonymous SNV A497A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Likely benign 12.49 109773 chr11 123813668 123813668 C T rs200267958 OR6T1 Nonsynonymous SNV R293H 0.004 0 0 0 5 0 0 0 1 0 0 0 22.1 109774 chr12 301786 301786 T C rs202182580 SLC6A12 Nonsynonymous SNV Y520C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 26.1 109775 chr13 42465596 42465596 C T rs745914537 VWA8 Nonsynonymous SNV R204H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 35 109776 chr13 42887255 42887255 A G rs61735444 AKAP11 Synonymous SNV P1782P 0.005 0.003 0.007 2 6 1 0.005 2 1 0 0 0 2.817 109777 chr12 133808169 133808169 C T rs756419511 ANHX Nonsynonymous SNV R104H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.376 109778 chr11 47612297 47612297 G A C1QTNF4 Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.334 109779 chr12 3649930 3649930 C T rs74678751 PRMT8 Synonymous SNV D69D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 12.43 109780 chr2 219507773 219507773 G A rs756896397 ZNF142 Nonsynonymous SNV R1156W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.6 109781 chr12 113496120 113496120 G T rs370359657 DTX1 Synonymous SNV T41T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.15 109782 chr11 124489768 124489768 G A rs775730645 PANX3 Synonymous SNV L372L 0.003 0 0 0 4 0 0 0 1 0 0 0 4.386 109783 chr12 16342622 16342622 G A rs111967344 SLC15A5 Nonsynonymous SNV L574F 0.013 0.018 0.017 6 15 7 0.015 5 0 0 0 0 24.6 109784 chr12 41303903 41303903 T C rs61748365 CNTN1 Synonymous SNV H30H 0.011 0.008 0.003 3 13 3 0.008 1 0 0 0 0 Benign 5.893 109785 chr12 41966583 41966583 T C PDZRN4 Synonymous SNV L410L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 109786 chr1 227920164 227920164 C T rs758043337 JMJD4 Nonsynonymous SNV A425T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.446 109787 chr2 220075474 220075474 G A rs141840760 ABCB6 Nonsynonymous SNV R693C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 35 109788 chr12 46345447 46345447 C T rs201119358 SCAF11 Nonsynonymous SNV E95K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 109789 chr12 124297768 124297768 G A rs561113993 DNAH10 Nonsynonymous SNV E950K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.9 109790 chr12 25157488 25157488 G A rs970575085 LOC645177 Synonymous SNV T71T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.012 109791 chr1 228476495 228476495 C G OBSCN Nonsynonymous SNV C3415W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 109792 chr2 220476512 220476512 A G STK11IP Nonsynonymous SNV Q764R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.35 109793 chr1 228521451 228521451 G A OBSCN Nonsynonymous SNV A5342T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 109794 chr1 228554710 228554710 A G OBSCN Nonsynonymous SNV K6488E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 109795 chr12 2968435 2968435 C T rs746630510 FOXM1 Nonsynonymous SNV C539Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 109796 chr11 129772309 129772309 G A rs12275633 PRDM10 Synonymous SNV L991L 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 10.38 109797 chr12 12397357 12397357 G C LRP6 Synonymous SNV S96S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.88 109798 chr12 50149489 50149489 A C TMBIM6 Nonsynonymous SNV E137D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 109799 chr13 96485204 96485204 A G rs146015664 UGGT2 Nonsynonymous SNV L1502P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 25.2 109800 chr11 130064567 130064567 A G rs62642514 ST14 Nonsynonymous SNV T350A 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 8.099 109801 chr13 96546858 96546858 C T rs781237559 UGGT2 Nonsynonymous SNV R938H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 109802 chr11 130066501 130066501 C T rs75609792 ST14 Synonymous SNV S420S 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 13.97 109803 chr12 50473717 50473717 G A rs199923697 ASIC1 Nonsynonymous SNV V396M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 109804 chr11 130068285 130068285 C T rs7930197 ST14 Synonymous SNV C514C 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Benign 12.88 109805 chr13 96642325 96642325 T G rs150344430 UGGT2 Nonsynonymous SNV E278A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 19.14 109806 chr12 50586326 50586326 C G LIMA1 Nonsynonymous SNV S48T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 109807 chr1 231335983 231335983 C T rs139376072 TRIM67 Synonymous SNV N451N 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 10.47 109808 chr12 335631 335631 C T rs140655819 SLC6A13 Nonsynonymous SNV G237S 0.002 0.008 0.017 0 2 3 0 5 0 0 0 0 33 109809 chr14 100188386 100188386 G A rs146435738 CYP46A1 Nonsynonymous SNV G387S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.9 109810 chr1 234509263 234509263 C T rs756459978 COA6 Synonymous SNV C17C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.661 109811 chr1 234614018 234614018 C G rs558674968 TARBP1 Nonsynonymous SNV A278P 0.017 0 0.003 5 20 0 0.013 1 0 0 0 0 25.5 109812 chr11 17546073 17546073 G A rs149172005 USH1C Synonymous SNV S228S 0.004 0 0 0 5 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 13.15 109813 chr14 103969423 103969423 G A rs202194062 MARK3 Synonymous SNV A667A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.525 109814 chr2 232325420 232325420 - TCATCATCT NCL D256_D257insEDD 0 0 0 2 0 0 0.005 0 0 0 0 0 109815 chr1 236706234 236706234 A G rs35968435 LGALS8 Nonsynonymous SNV D190G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 20.1 109816 chr2 233408325 233408325 C A rs75369104 CHRNG Synonymous SNV I317I 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.2 109817 chr12 48131467 48131467 G A rs146714167 RAPGEF3 Synonymous SNV C843C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 10.89 109818 chr2 234669064 234669064 T A UGT1A1 Nonsynonymous SNV L44H 0 0 0 2 0 0 0.005 0 0 0 0 0 7.803 109819 chr2 234669473 234669473 A G rs148755655 UGT1A1 Synonymous SNV E180E 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.855 109820 chr14 105349484 105349484 G A rs368875460 CEP170B Synonymous SNV T160T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.526 109821 chr2 234752863 234752863 C T rs140874442 HJURP Nonsynonymous SNV V103M 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 4.26 109822 chr11 75317003 75317003 G A rs749831967 MAP6 Nonsynonymous SNV A389V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.3 109823 chr2 237374343 237374343 G A rs373104076 IQCA1 Nonsynonymous SNV P244L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 25.1 109824 chr12 25047208 25047208 C T rs200163330 BCAT1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 109825 chr1 24663194 24663194 C T GRHL3 Synonymous SNV Y117Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.18 109826 chr12 1702549 1702549 C G rs35510932 FBXL14 Synonymous SNV T228T 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 11.89 109827 chr12 54396251 54396251 G A rs955477233 HOXC9 Synonymous SNV T192T 0.003 0 0 0 4 0 0 0 0 0 0 0 8.63 109828 chr1 247587681 247587681 C T rs143840033 NLRP3 Synonymous SNV D312D 0.008 0.003 0.02 0 9 1 0 6 0 0 0 0 Benign/Likely benign 3.145 109829 chr12 131620582 131620582 G A ADGRD1 Synonymous SNV K756K 0.007 0.003 0 4 8 1 0.01 0 0 0 0 1 8.966 109830 chr12 56583165 56583165 C T rs148514904 SMARCC2 Synonymous SNV V27V 0.005 0.005 0 8 6 2 0.021 0 0 0 0 0 15.69 109831 chr2 242066796 242066796 T C rs56033464 PASK Nonsynonymous SNV T512A 0.015 0.01 0.01 12 18 4 0.031 3 0 0 0 0 0.001 109832 chr12 27648749 27648749 C G rs994130264 SMCO2 Nonsynonymous SNV S265C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 109833 chr12 57114113 57114113 C T rs149200196 NACA Nonsynonymous SNV V401I 0.009 0.01 0.014 4 11 4 0.01 4 0 0 0 0 14.52 109834 chr11 32720864 32720864 T C rs754599574 CCDC73 Nonsynonymous SNV Y108C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 109835 chr11 8751780 8751780 C G DENND2B Nonsynonymous SNV E353Q 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 13.24 109836 chr3 1337303 1337303 C T CNTN6 Nonsynonymous SNV T86I 0 0 0 2 0 0 0.005 0 0 0 0 0 12.48 109837 chr12 2908280 2908280 A C rs374042199 FKBP4 Nonsynonymous SNV K181Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.15 109838 chr12 2910390 2910390 G A rs374757727 FKBP4 Synonymous SNV L380L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.81 109839 chr12 2921992 2921992 A T rs113509550 ITFG2 Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.396 109840 chr12 2929979 2929979 T C rs545766779 ITFG2 Synonymous SNV C212C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.301 109841 chr12 2943916 2943916 G A rs568698955 NRIP2 Synonymous SNV H78H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 109842 chr12 58087952 58087952 C T rs752983128 OS9 Nonsynonymous SNV A3V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 109843 chr11 33743974 33743974 C T rs111771149 CD59 Synonymous SNV G6G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.53 109844 chr1 25573249 25573249 C A RSRP1 Nonsynonymous SNV R69L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 109845 chr12 49951178 49951178 A G rs34806660 KCNH3 Synonymous SNV G838G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.855 109846 chr12 32994073 32994073 G A rs146882581 PKP2 Nonsynonymous SNV T482M 0.003 0.01 0 0 3 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.28 109847 chr12 49994231 49994231 G A rs60232998 FAM186B Nonsynonymous SNV R398C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 18.05 109848 chr12 50189803 50189803 G C rs186697175 NCKAP5L Nonsynonymous SNV P614A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.001 109849 chr12 50294923 50294923 A G rs297912 FAIM2 Synonymous SNV Y67Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.074 109850 chr12 55820277 55820277 C G rs77287121 OR6C76 Nonsynonymous SNV I80M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.111 109851 chr12 55846794 55846794 T A rs78804313 OR6C2 Nonsynonymous SNV V266E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 109852 chr3 10400501 10400501 G A rs56056138 ATP2B2 Synonymous SNV R625R 0 0 0 6 0 0 0.015 0 0 0 0 0 10.58 109853 chr12 50745415 50745415 G C rs75533952 FAM186A Nonsynonymous SNV P1734A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.81 109854 chr1 27106025 27106025 G A rs371595717 ARID1A Nonsynonymous SNV R1879Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 109855 chr12 42491379 42491379 T A rs139072942 GXYLT1 Synonymous SNV R311R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 3.399 109856 chr11 9754156 9754156 C T SWAP70 Nonsynonymous SNV R269W 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 35 109857 chr1 27153443 27153443 - GCAGCG ZDHHC18 S61_L62insGS 0 0 0.003 0 0 0 0 1 0 0 0 0 109858 chr12 50747880 50747880 T C rs115075008 FAM186A Nonsynonymous SNV Q912R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.057 109859 chr11 4661750 4661750 C A rs138670452 OR51D1 Synonymous SNV R244R 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 9.146 109860 chr14 33014456 33014456 A G rs61757554 AKAP6 Synonymous SNV T199T 0.008 0.003 0 1 9 1 0.003 0 1 0 0 0 0.008 109861 chr12 51449995 51449995 T C rs761872388 LETMD1 Synonymous SNV P126P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.889 109862 chr1 29379779 29379779 C T rs139530083 EPB41 Synonymous SNV D565D 0 0 0.007 0 0 0 0 2 0 0 0 0 17.18 109863 chr1 29435862 29435862 T C rs765049006 EPB41 Synonymous SNV S687S 0 0 0.007 0 0 0 0 2 0 0 0 0 2.553 109864 chr12 100797858 100797858 G A rs773113592 SLC17A8 Nonsynonymous SNV V316I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.867 109865 chr12 69981763 69981763 G A rs749401932 CCT2 Nonsynonymous SNV V57I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 109866 chr1 31194489 31194489 G A rs150728572 MATN1 Synonymous SNV I68I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 8.781 109867 chr12 70070744 70070744 A G rs145416134 BEST3 Synonymous SNV I167I 0.008 0.008 0.017 4 9 3 0.01 5 0 0 0 0 4.273 109868 chr12 57604565 57604565 G A rs754333591 LRP1 Synonymous SNV A4273A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.61 109869 chr11 5686213 5686213 A C rs148933048 TRIM5 Nonsynonymous SNV D436E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.798 109870 chr12 52757187 52757187 C T rs139756703 KRT85 Nonsynonymous SNV R53H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 109871 chr3 13667983 13667983 C T rs201379020 FBLN2 Nonsynonymous SNV R732W 0 0.003 0.003 6 0 1 0.015 1 0 0 0 0 29.7 109872 chr12 102046527 102046527 A G rs780574068 MYBPC1 Nonsynonymous SNV Y482C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 109873 chr14 44975349 44975349 G A rs139581441 FSCB Nonsynonymous SNV A281V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 109874 chr11 57100472 57100472 G A rs113062066 SSRP1 Synonymous SNV Y166Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.541 109875 chr14 50117014 50117014 G A rs546224864 POLE2 Nonsynonymous SNV T463M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.85 109876 chr12 7310566 7310566 G A rs749804758 CLSTN3 Synonymous SNV T920T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 6.469 109877 chr1 34189816 34189816 G A rs748021579 CSMD2 Synonymous SNV I994I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 109878 chr14 52948990 52948990 C T rs111824837 TXNDC16 Nonsynonymous SNV A419T 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 27.1 109879 chr1 3547635 3547635 C T rs114827156 WRAP73 Synonymous SNV S429S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.6 109880 chr1 3548198 3548198 C T rs16823940 WRAP73 Nonsynonymous SNV V358I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.19 109881 chr1 35658210 35658210 T C SFPQ Synonymous SNV P147P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 109882 chr12 51080364 51080364 C T rs74751916 DIP2B Nonsynonymous SNV R484W 0.011 0.018 0.007 7 13 7 0.018 2 0 0 0 0 34 109883 chr14 55510473 55510473 C T rs769682311 SOCS4 Synonymous SNV C238C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.572 109884 chr12 81111121 81111121 G C MYF5 Synonymous SNV R93R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.86 109885 chr1 3645962 3645962 G A rs776097108 TP73 Synonymous SNV P333P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 109886 chr14 55817998 55817998 G A rs150370798 FBXO34 Nonsynonymous SNV R297H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.559 109887 chr12 53454300 53454300 C T rs201912170 TNS2 Nonsynonymous SNV T920M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.14 109888 chr1 37948462 37948462 C G ZC3H12A Nonsynonymous SNV S350R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.291 109889 chr12 6928482 6928482 - T rs782204027 CD4 Stop gain S277* 0.002 0.003 0 0 2 1 0 0 0 0 0 0 109890 chr11 58967162 58967162 G A rs182384440 DTX4 Synonymous SNV P408P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 109891 chr12 7027248 7027248 A G rs782550282 ENO2 Nonsynonymous SNV K197E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.5 109892 chr3 38037242 38037242 A T rs140065677 VILL Synonymous SNV G118G 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.184 109893 chr12 542403 542403 C T rs764284504 CCDC77 Nonsynonymous SNV L214F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 109894 chr1 39851327 39851327 A G MACF1 Synonymous SNV E2628E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.041 109895 chr12 7045892 7045915 CAGCAGCAGCAGCAGCAGCAGCAG - ATN1 Q495_Q502del 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 109896 chr12 70704743 70704743 C T rs368572050 CNOT2 Synonymous SNV D39D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.51 109897 chr1 40702342 40702342 A G rs35901302 RLF Synonymous SNV T656T 0.014 0.013 0.01 5 16 5 0.013 3 0 0 0 0 0.014 109898 chr12 7286215 7286215 G C rs375695520 CLSTN3 Nonsynonymous SNV E78D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.19 109899 chr11 60636698 60636698 G A rs145067883 ZP1 Nonsynonymous SNV V93I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.29 109900 chr1 43201475 43201475 C T CLDN19 Synonymous SNV S205S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.521 109901 chr1 43218233 43218233 C A P3H1 Nonsynonymous SNV C483F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 109902 chr12 76740799 76740799 A G rs139053702 BBS10 Synonymous SNV Y322Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.039 109903 chr1 43352522 43352522 C T rs140851688 LOC339539 0 0 0.007 0 0 0 0 2 0 0 0 0 3.635 109904 chr1 43353379 43353379 C T rs368677256 LOC339539 0 0 0.007 0 0 0 0 2 0 0 0 0 7.394 109905 chr12 112036794 112036794 C T rs757403790 ATXN2 Synonymous SNV Q15Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.068 109906 chr12 56881774 56881774 G A rs2279536 GLS2 Synonymous SNV A43A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.4 109907 chr1 44156683 44156683 C T rs35964309 KDM4A Synonymous SNV L735L 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 8.938 109908 chr13 100634777 100634777 G T rs771629736 ZIC2 Synonymous SNV A153A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Likely benign 9.823 109909 chr12 53700853 53700853 G A rs142953883 C12orf10 Nonsynonymous SNV G351S 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 34 109910 chr12 113532685 113532685 G A rs753280687 DTX1 Nonsynonymous SNV R440H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 109911 chr12 54925072 54925072 C T rs35861129 NCKAP1L Synonymous SNV G795G 0.014 0.018 0.003 3 17 7 0.008 1 0 0 0 0 17.56 109912 chr14 71500217 71500217 C T rs71425297 PCNX1 Synonymous SNV Y1099Y 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 10.4 109913 chr12 57690208 57690208 A G R3HDM2 Synonymous SNV T209T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.418 109914 chr1 46496859 46496859 C A rs375494816 MAST2 Synonymous SNV P963P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.749 109915 chr3 44763822 44763822 C T rs147202860 ZNF502 Nonsynonymous SNV H505Y 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 19.37 109916 chr11 62434355 62434355 G A rs375255311 CSKMT Synonymous SNV L185L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.358 109917 chr12 59270333 59270333 C T rs2279718 LRIG3 Synonymous SNV T803T 0.02 0.021 0.024 8 23 8 0.021 7 1 0 0 0 17.74 109918 chr11 62563587 62563587 T C rs149273641 NXF1 Nonsynonymous SNV K471R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.007 109919 chr12 56558394 56558394 A C rs141265342 SMARCC2 Synonymous SNV P1087P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.568 109920 chr1 53347172 53347172 T G rs370400869 ZYG11A Synonymous SNV S251S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.317 109921 chr12 64882317 64882317 T C rs35635889 TBK1 Nonsynonymous SNV V464A 0.006 0.016 0 4 7 6 0.01 0 0 0 0 0 Benign 19.76 109922 chr3 46654182 46654182 G T rs17079007 FAM240A Nonsynonymous SNV L3F 0.005 0.003 0.003 7 6 1 0.018 1 0 0 0 0 3.921 109923 chr11 63398854 63398854 C - ATL3 K382Rfs*53 0.001 0 0 0 1 0 0 0 0 0 0 0 109924 chr12 57571309 57571309 T C LRP1 Synonymous SNV S1432S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.723 109925 chr3 46759258 46759258 G C PRSS50 Synonymous SNV P19P 0.003 0 0 6 3 0 0.015 0 0 0 0 0 0.322 109926 chr12 65224220 65224220 C T rs150781447 TBC1D30 Nonsynonymous SNV R116C 0.009 0.005 0 6 11 2 0.015 0 0 0 0 0 34 109927 chr12 97015374 97015374 C T CFAP54 Nonsynonymous SNV R1216C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 27.7 109928 chr3 47958337 47958337 T A rs148645850 MAP4 Nonsynonymous SNV D327V 0.004 0 0 6 5 0 0.015 0 0 0 0 0 15.4 109929 chr12 57867885 57867885 G A rs61758883 ARHGAP9 Nonsynonymous SNV R309W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 109930 chr13 114164696 114164696 C T rs754904712 TMCO3 Synonymous SNV L330L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.68 109931 chr13 114188539 114188541 TCT - TMCO3 L344del 0.002 0 0 0 2 0 0 0 0 0 0 0 109932 chr12 98927523 98927523 A G rs372248802 TMPO Synonymous SNV E496E 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Likely benign 5.134 109933 chr12 122404936 122404936 G A WDR66 Synonymous SNV E856E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.74 109934 chr13 114525007 114525007 C T rs149588435 GAS6 Synonymous SNV A602A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.16 109935 chr13 20797025 20797025 A T rs111033338 GJB6 Nonsynonymous SNV S199T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 23 109936 chr11 55798689 55798689 C G rs762903555 OR5AS1 Nonsynonymous SNV S265R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.636 109937 chr1 57173274 57173274 T G PRKAA2 Nonsynonymous SNV L516R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 109938 chr12 62926409 62926409 A G rs143346269 MON2 Nonsynonymous SNV Q531R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.05 109939 chr13 21729952 21729952 - AAA SKA3 0.003 0 0 0 3 0 0 0 0 0 0 0 109940 chr13 22067466 22067466 T G rs141845360 MICU2 Nonsynonymous SNV E409D 0.003 0 0 0 3 0 0 0 0 0 0 0 13.65 109941 chr3 50382999 50382999 C T ZMYND10 Synonymous SNV L4L 0.004 0 0 6 5 0 0.015 0 0 0 0 0 19.31 109942 chr11 64877205 64877205 C T rs747378351 VPS51 Nonsynonymous SNV T563M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 109943 chr11 64882506 64882506 C T rs187240326 TM7SF2 Nonsynonymous SNV P282L 0.012 0.005 0 2 14 2 0.005 0 0 0 0 0 28 109944 chr11 64981706 64981706 G A rs762791481 SLC22A20P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.375 109945 chr12 71537951 71537951 C T rs17849952 TSPAN8 Nonsynonymous SNV V35I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 23.6 109946 chr3 52550235 52550235 C T rs146145755 STAB1 Synonymous SNV Y1375Y 0.002 0 0 4 2 0 0.01 0 0 0 0 0 13.4 109947 chr14 94069688 94069688 C T rs76171275 UNC79 Synonymous SNV S1226S 0.013 0.023 0.007 7 15 9 0.018 2 0 0 0 0 10.02 109948 chr13 27669852 27669852 T C rs116940052 USP12 Synonymous SNV L153L 0.014 0.018 0.007 3 16 7 0.008 2 0 0 0 0 3.566 109949 chr13 27829389 27829389 C T RPL21 Nonsynonymous SNV T47I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 109950 chr12 7015023 7015023 C G rs147166327 LRRC23 Synonymous SNV P47P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 109951 chr14 95590785 95590785 G C rs148758903 DICER1 Nonsynonymous SNV P375R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 109952 chr12 7045891 7045891 - CAGCAGCAGCAGCAGCAGCAGCAG rs1064794592 ATN1 Q502_H503insQQQQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 109953 chr13 37006845 37006845 G A rs140980274 CCNA1 Synonymous SNV G29G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.541 109954 chr11 66100119 66100119 G A rs143749510 RIN1 Synonymous SNV A632A 0.018 0.008 0 7 21 3 0.018 0 0 0 0 0 11.9 109955 chr12 7559440 7559440 C T CD163L1 Nonsynonymous SNV D269N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 109956 chr1 7723831 7723831 C T rs374460842 CAMTA1 Synonymous SNV A378A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 109957 chr12 75601684 75601684 T C rs181920551 KCNC2 Nonsynonymous SNV K27R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 8.558 109958 chr15 100537654 100537654 G A rs369161179 ADAMTS17 Nonsynonymous SNV A911V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 109959 chr11 66612464 66612464 C T rs61737209 RCE1 Synonymous SNV G88G 0.018 0.005 0 7 21 2 0.018 0 0 0 0 0 7.279 109960 chr3 58870321 58870321 C T rs116534917 C3orf67 Nonsynonymous SNV R17H 0.009 0.005 0 5 10 2 0.013 0 0 0 0 0 Benign 20.4 109961 chr11 67261434 67261434 G T rs762721774 PITPNM1 Synonymous SNV R988R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.804 109962 chr1 84956035 84956035 G A rs116075408 RPF1 Nonsynonymous SNV V166I 0 0 0.01 0 0 0 0 3 0 0 0 0 21.3 109963 chr11 67925546 67925546 T C rs144458991 KMT5B Nonsynonymous SNV N584S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.002 109964 chr11 67925970 67925970 G T rs148005738 KMT5B Synonymous SNV R443R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.43 109965 chr1 85647885 85647885 A T SYDE2 Nonsynonymous SNV F814I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 109966 chr1 86304282 86304282 C T rs183769998 COL24A1 Nonsynonymous SNV A523T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 109967 chr13 28919595 28919595 C T rs553261958 FLT1 Nonsynonymous SNV R781Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 109968 chr11 56511025 56511025 T C rs61736061 OR9G4 Nonsynonymous SNV Y88C 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 24.3 109969 chr11 5653960 5653960 G A rs12098988 TRIM34, TRIM6-TRIM34 Synonymous SNV T133T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.7 109970 chr11 5662437 5662437 G C rs74051049 TRIM34 Nonsynonymous SNV R264T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.311 109971 chr13 50125463 50125463 T A RCBTB1 Nonsynonymous SNV R285W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 109972 chr11 5719756 5719756 C T rs61735273 TRIM22 Nonsynonymous SNV S240L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 25.7 109973 chr3 98620098 98620098 - GGCGGC DCBLD2 A24_P25insAA 0.002 0 0 2 2 0 0.005 0 0 0 0 0 109974 chr3 99569321 99569321 T C rs201901524 FILIP1L Nonsynonymous SNV N160S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 2.133 109975 chr13 36006414 36006414 A G rs200789345 NBEA Nonsynonymous SNV H2063R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 10.72 109976 chr11 5776779 5776779 T C rs73406197 OR52N4 Nonsynonymous SNV I270T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.001 109977 chr12 93192834 93192834 T C rs183378864 EEA1 Nonsynonymous SNV N934S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.005 109978 chr15 40212075 40212075 G A rs377215097 GPR176 Synonymous SNV I51I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.47 109979 chr3 101284750 101284750 C T rs201166519 TRMT10C Synonymous SNV F375F 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Likely benign 7.024 109980 chr13 39263645 39263645 A C FREM2 Synonymous SNV R722R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 109981 chr11 72028249 72028249 G A rs148534573 CLPB Nonsynonymous SNV R268W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 109982 chr13 39425888 39425905 GTGGTTATAAGAATTCCA - FREM2 V2271_V2276del 0 0.003 0 0 0 1 0 0 0 0 0 0 109983 chr11 58274691 58274691 A C rs140086676 OR5B21 Nonsynonymous SNV S296R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.725 109984 chr11 58275303 58275303 G A rs146345059 OR5B21 Synonymous SNV Y92Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.652 109985 chr11 5841743 5841743 C T rs73394373 OR52N2 Nonsynonymous SNV P60S 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 26.2 109986 chr12 29624794 29624794 T C rs181642511 OVCH1 Synonymous SNV Q634Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.03 109987 chr13 78493712 78493712 C A rs138247915 EDNRB Synonymous SNV P13P 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 12.77 109988 chr13 79176674 79176674 G A rs142455133 POU4F1 Nonsynonymous SNV L46F 0.012 0.013 0.003 5 14 5 0.013 1 0 0 0 0 25.2 109989 chr1 94054577 94054577 C T rs115932818 BCAR3 Nonsynonymous SNV V205I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.224 109990 chr13 95705380 95705380 G A rs11568644 ABCC4 Nonsynonymous SNV T1095M 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 Benign 26.6 109991 chr11 74716968 74716968 C G rs777441967 NEU3 Nonsynonymous SNV L273V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 109992 chr1 95007094 95007094 T C rs199648767 F3 Synonymous SNV S33S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.39 109993 chr11 59211280 59211280 G T rs770324514 OR5A1 Synonymous SNV S213S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 109994 chr12 98927595 98927595 T C rs777452560 TMPO Synonymous SNV Y520Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.002 109995 chr13 111158937 111158937 G A rs186888528 COL4A2 Synonymous SNV A1526A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 13.2 109996 chr13 101315256 101315256 C T rs200955718 TMTC4 Nonsynonymous SNV A153T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 22.9 109997 chr11 6007397 6007397 G A rs116235360 OR52L1 Nonsynonymous SNV A255V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23 109998 chr11 6007890 6007890 G C rs200386149 OR52L1 Nonsynonymous SNV L91V 0.003 0 0 0 3 0 0 0 0 0 0 0 19.64 109999 chr14 100995452 100995452 G A rs35447854 WDR25 Synonymous SNV V182V 0.006 0.021 0.01 3 7 8 0.008 3 0 0 0 0 12.21 110000 chr3 113563397 113563397 T C GRAMD1C Synonymous SNV D25D 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 0.004 110001 chr14 101004432 101004432 G A rs7493484 BEGAIN Synonymous SNV A552A 0.007 0.023 0.01 4 8 9 0.01 3 0 0 0 0 0.291 110002 chr3 113697807 113697807 C T rs760940575 CCDC191 Synonymous SNV T764T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.29 110003 chr13 114079397 114079397 G A rs370042842 ADPRHL1 Synonymous SNV P248P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 2.575 110004 chr13 114472134 114472134 G T rs757280142 TMEM255B 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 110005 chr14 102551161 102551163 TCT - rs755646384 HSP90AA1 K279del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 110006 chr20 15480436 15480436 G T MACROD2 Nonsynonymous SNV A197S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 110007 chr13 111935629 111935629 G A rs753451109 ARHGEF7 Synonymous SNV P388P 0.004 0 0 0 5 0 0 0 0 0 0 0 14.5 110008 chr11 83182761 83182761 G A rs777007201 DLG2 Nonsynonymous SNV T144I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 110009 chr20 17929585 17929585 C T rs115502408 SNX5 Synonymous SNV L184L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 110010 chr13 25274913 25274913 C T rs9511415 ATP12A Synonymous SNV D584D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.51 110011 chr13 95735444 95735444 C T rs371124557 ABCC4 Nonsynonymous SNV R832Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 110012 chr11 61722627 61722627 G C rs1801393 BEST1 Synonymous SNV L7L 0.015 0.016 0.031 13 18 6 0.033 9 0 0 0 0 Benign 12.06 110013 chr3 122842979 122842979 G A rs763335058 PDIA5 Nonsynonymous SNV G226S 0 0 0 3 0 0 0.008 0 0 0 0 0 33 110014 chr11 62010882 62010882 G T rs139603186 SCGB1D2 Nonsynonymous SNV K59N 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 20.3 110015 chr11 62296592 62296592 C A rs76414066 AHNAK Nonsynonymous SNV G1766V 0.011 0.016 0.014 2 13 6 0.005 4 0 0 1 0 Benign 19.66 110016 chr11 88386460 88386460 A G rs200678507 GRM5 Synonymous SNV Y341Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 110017 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGG SKA3 0.012 0.013 0.017 3 14 5 0.008 5 0 0 0 0 110018 chr13 24233219 24233219 C T rs61756242 TNFRSF19 Nonsynonymous SNV A27V 0.017 0.013 0.01 1 20 5 0.003 3 0 1 0 0 24.3 110019 chr11 92881904 92881904 A G rs150167843 SLC36A4 Synonymous SNV L303L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.23 110020 chr13 37580078 37580078 C A rs117135638 EXOSC8 Nonsynonymous SNV P87H 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 32 110021 chr11 93844087 93844087 G A rs139585459 HEPHL1 Nonsynonymous SNV E1022K 0.006 0.003 0.01 7 7 1 0.018 3 0 0 0 0 24.4 110022 chr15 56385868 56385868 A G rs33984059 RFX7 Nonsynonymous SNV L1256P 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 25 110023 chr20 25262699 25262699 G A rs371466501 PYGB Synonymous SNV E478E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 110024 chr14 104431769 104431769 G A rs752147440 TDRD9 Nonsynonymous SNV V174I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.037 110025 chr14 21702251 21702251 C T rs139624211 HNRNPC Synonymous SNV E34E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.92 110026 chr13 31232672 31232672 A G USPL1 Nonsynonymous SNV S491G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 110027 chr14 105173863 105173868 CCCCAC - rs775646511 INF2 P427_P428del 0.017 0.029 0 7 20 11 0.018 0 6 2 0 3 110028 chr12 101017768 101017768 G A rs61748062 GAS2L3 Synonymous SNV P395P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 7.284 110029 chr11 64606621 64606621 C T rs998045536 CDC42BPG Nonsynonymous SNV G254S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 110030 chr12 52913939 52913939 T G rs61747180 KRT5 Synonymous SNV R48R 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 4.325 110031 chr12 52938321 52938321 G A rs144494659 KRT71 Nonsynonymous SNV R523W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 29 110032 chr12 52941682 52941682 T A rs35988863 KRT71 Nonsynonymous SNV I355F 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Benign 32 110033 chr3 130712941 130712941 A T ATP2C1 Nonsynonymous SNV M681L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.03 110034 chr12 104056662 104056662 T G rs761168997 STAB2 Nonsynonymous SNV I636M 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.002 110035 chr20 33575641 33575641 A G rs75044008 MYH7B Nonsynonymous SNV N489S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 110036 chr15 64221851 64221851 C T LOC101928988 0.002 0 0 0 2 0 0 0 0 0 0 0 6.827 110037 chr11 64846912 64846912 C T rs556827707 CDCA5 Synonymous SNV K197K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 110038 chr12 53085108 53085108 G A rs374834446 KRT77 Synonymous SNV R526R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.22 110039 chr3 132440608 132440608 G A NPHP3-AS1 0.003 0 0 3 4 0 0.008 0 0 0 0 0 17.09 110040 chr14 23900196 23900196 T C MYH7 Nonsynonymous SNV K270R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 110041 chr13 53624408 53624408 C T rs35787155 OLFM4 Synonymous SNV T345T 0.005 0 0 0 6 0 0 0 0 0 0 0 12.6 110042 chr20 34459706 34459706 C T rs140335933 PHF20 Nonsynonymous SNV P413S 0.005 0.003 0.017 2 6 1 0.005 5 0 0 0 0 0.003 110043 chr15 65916481 65916481 T C rs374906875 SLC24A1 Synonymous SNV H21H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.081 110044 chr14 24108523 24108523 C T rs61745475 DHRS2 Synonymous SNV C92C 0.018 0.003 0.003 4 21 1 0.01 1 1 0 0 0 Benign 8.457 110045 chr20 34743164 34743164 G C rs911128 LOC100130373 0 0 0.017 0 0 0 0 5 0 0 1 0 7.108 110046 chr20 35414996 35414996 G A rs574902089 SOGA1 Synonymous SNV F1626F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 110047 chr13 73327920 73327921 AT - rs774725351 BORA Stop gain C475* 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 110048 chr11 65423327 65423327 G A rs200111108 RELA Synonymous SNV S316S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 110049 chr11 65482354 65482354 C T rs767867886 KAT5 Synonymous SNV F282F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.497 110050 chr15 67596786 67596786 A G rs143850388 IQCH Nonsynonymous SNV K166R 0.01 0.005 0 0 12 2 0 0 0 0 0 0 12.53 110051 chr20 36766621 36766621 G A rs142292970 TGM2 Synonymous SNV Y422Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.532 110052 chr12 53587035 53587035 C T rs376018193 ITGB7 Nonsynonymous SNV G539R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.3 110053 chr3 140785121 140785121 G A rs151301252 SPSB4 Nonsynonymous SNV E59K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.9 110054 chr13 96212515 96212515 C G rs369800452 CLDN10 Nonsynonymous SNV A96G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.7 110055 chr12 53686752 53686752 T C rs147227299 ESPL1 Synonymous SNV G2053G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.465 110056 chr13 96375563 96375563 A G rs373858454 DNAJC3 Synonymous SNV S87S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.487 110057 chr13 52535997 52535997 A G rs186924074 ATP7B Nonsynonymous SNV L641S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 110058 chr20 37258198 37258198 A G rs201229120 ARHGAP40 Nonsynonymous SNV M229V 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 9.526 110059 chr20 37647466 37647466 C T rs36025205 DHX35 Synonymous SNV R443R 0 0 0.003 3 0 0 0.008 1 0 0 0 0 16.56 110060 chr11 66084182 66084182 G A CD248 Nonsynonymous SNV T106I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 110061 chr12 54428267 54428267 G A rs143274247 HOXC5 Synonymous SNV E220E 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 6.69 110062 chr12 54960803 54960803 T C rs778054287 PDE1B Synonymous SNV I33I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.336 110063 chr11 66192465 66192465 A G rs147463475 NPAS4 Nonsynonymous SNV N492D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.014 110064 chr3 150299465 150299465 C T rs780096112 EIF2A Stop gain R459X 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 38 110065 chr14 100615586 100615586 C T rs141630066 DEGS2 Nonsynonymous SNV V182M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.232 110066 chr11 6647426 6647426 G A rs756799528 DCHS1 Nonsynonymous SNV R2184W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 110067 chr14 100828196 100828196 C T rs149405219 WARS1 Synonymous SNV A13A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.01 110068 chr13 52330563 52330563 C T WDFY2 Synonymous SNV V343V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 110069 chr11 67072382 67072382 C T rs61731786 SSH3 Synonymous SNV F81F 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 10.08 110070 chr11 67079177 67079177 G A rs1573536 SSH3 Nonsynonymous SNV R600H 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 22.4 110071 chr14 34266738 34266738 G A rs199714115 NPAS3 Synonymous SNV S429S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 110072 chr11 67165015 67165015 T C rs2066494 RAD9A Synonymous SNV S311S 0.009 0.008 0 0 11 3 0 0 0 0 0 0 5.483 110073 chr14 103396545 103396545 C T AMN Synonymous SNV G350G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 110074 chr14 22038440 22038440 C T rs373596313 OR10G3 Nonsynonymous SNV V146M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 110075 chr14 38061560 38061560 G A FOXA1 Synonymous SNV Y143Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.129 110076 chr3 158314678 158314678 A G rs373208111 MLF1 Star tloss M30V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.165 110077 chr11 67395624 67395624 T C rs56102510 NUDT8 Synonymous SNV L168L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 1.916 110078 chr13 72440668 72440673 GCCGCC - DACH1 G80_G81del 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 110079 chr14 104642805 104642805 G A rs779208185 KIF26A Nonsynonymous SNV R1227H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.042 110080 chr20 47324939 47324939 G A rs369745908 PREX1 Synonymous SNV P214P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 110081 chr15 80429891 80429891 A T rs768332076 ZFAND6 Nonsynonymous SNV Y145F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 110082 chr14 24550718 24550718 C T rs201197984 NRL Synonymous SNV R147R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 16.32 110083 chr14 102792862 102792862 C T rs45572332 ZNF839 Synonymous SNV L161L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.12 110084 chr3 179103461 179103461 G A rs562834967 MFN1 Synonymous SNV A589A 0 0 0.003 4 0 0 0.01 1 0 0 0 0 1.67 110085 chr12 59276751 59276751 C T rs138679764 LRIG3 Synonymous SNV A400A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.74 110086 chr14 103566642 103566642 C T EXOC3L4 Nonsynonymous SNV S29F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 110087 chr14 25101305 25101305 C T rs144452134 GZMB Nonsynonymous SNV R108Q 0 0.005 0 0 0 2 0 0 0 0 0 0 0.27 110088 chr11 71724657 71724657 G A rs777250827 NUMA1 Nonsynonymous SNV R1298W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 110089 chr14 31806821 31806821 C T HEATR5A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.4 110090 chr14 33014530 33014530 C A AKAP6 Nonsynonymous SNV A224E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 110091 chr14 105236727 105236727 C T rs113547523 AKT1 Nonsynonymous SNV R465H 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 Uncertain significance 32 110092 chr14 35243557 35243557 G A rs112490518 BAZ1A Synonymous SNV Y959Y 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 4.912 110093 chr14 36295815 36295815 G C rs140117219 BRMS1L Nonsynonymous SNV E31D 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 13.76 110094 chr12 66308886 66308886 A C rs371391035 HMGA2 Synonymous SNV G99G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.398 110095 chr3 185906100 185906100 G A rs765388941 DGKG Synonymous SNV S637S 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 12.18 110096 chr14 37777655 37777655 A G rs34151241 MIPOL1 Synonymous SNV E253E 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 1.115 110097 chr20 60292863 60292863 C T rs8121433 LOC100128310 0 0 0.003 0 0 0 0 1 0 0 0 0 0.535 110098 chr20 60292881 60292881 C T rs6089488 LOC100128310 0 0 0.007 0 0 0 0 2 0 0 1 0 3.802 110099 chr14 60758134 60758134 G A rs771879145 PPM1A Nonsynonymous SNV V361I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 110100 chr12 123687335 123687335 T C MPHOSPH9 Synonymous SNV V539V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.886 110101 chr14 105965053 105965053 C T rs371492836 TEDC1 Stop gain R318X 0.004 0 0 0 5 0 0 0 0 0 0 0 35 110102 chr3 186954160 186954160 C T rs376991602 MASP1 Nonsynonymous SNV R500H 0.001 0 0 4 1 0 0.01 0 0 0 0 0 18.31 110103 chr20 60807967 60807967 C A LOC105369209 0 0 0.003 0 0 0 0 1 0 0 0 0 6.11 110104 chr11 76507144 76507144 G T rs148661218 TSKU Nonsynonymous SNV V162L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.888 110105 chr14 50778863 50778863 C A rs113626637 L2HGDH Synonymous SNV V2V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign/Likely benign 12.98 110106 chr12 71526503 71526503 T G rs760787994 TSPAN8 Nonsynonymous SNV Q182H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.113 110107 chr20 60989607 60989607 A G rs200738153 RBBP8NL Nonsynonymous SNV L267P 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 25.2 110108 chr20 61391514 61391514 G A rs45613333 NTSR1 Synonymous SNV P384P 0.008 0.018 0.027 1 9 7 0.003 8 0 0 0 0 1.495 110109 chr14 65259901 65259901 C T rs150013838 SPTB Nonsynonymous SNV R827Q 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 15.37 110110 chr12 129558762 129558762 C T rs77778748 TMEM132D Synonymous SNV E986E 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 9.893 110111 chr20 61885580 61885580 G C rs149519714 FLJ16779 0.002 0 0.014 4 2 0 0.01 4 1 0 0 1 4.149 110112 chr20 61937282 61937282 C T rs372429110 COL20A1 Synonymous SNV L129L 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 7.747 110113 chr20 62119777 62119777 G T rs202102758 EEF1A2 Synonymous SNV G422G 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign/Likely benign 1.587 110114 chr14 24620406 24620406 G T rs774636170 RNF31 Nonsynonymous SNV V368L 0.003 0 0 0 4 0 0 0 0 0 0 0 15.39 110115 chr3 195953840 195953840 G T rs145068718 SLC51A Synonymous SNV L46L 0.003 0 0 5 4 0 0.013 0 0 0 0 0 3.515 110116 chr3 195968877 195968877 G A rs375261933 PCYT1A Nonsynonymous SNV A217V 0.003 0 0 4 3 0 0.01 0 0 0 0 0 18.21 110117 chr14 71374693 71374693 G A rs776407453 PCNX1 Synonymous SNV L42L 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 11.67 110118 chr14 24839701 24839701 G A rs766889405 NFATC4 Nonsynonymous SNV G366E 0.003 0 0 0 4 0 0 0 0 0 0 0 8.2 110119 chr14 24839756 24839756 C A rs2229310 NFATC4 Synonymous SNV L384L 0.003 0 0 0 4 0 0 0 0 0 0 0 15.74 110120 chr14 73712426 73712426 C G rs750929754 LOC101928123 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 8.532 110121 chr11 85347173 85347173 C T rs17850847 TMEM126B Nonsynonymous SNV A152V 0.03 0.003 0.017 1 35 1 0.003 5 0 0 0 0 0.005 110122 chr20 62374129 62374129 C T rs565824652 SLC2A4RG Synonymous SNV I346I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.95 110123 chr20 62737727 62737727 C T rs143647574 NPBWR2 Nonsynonymous SNV R153H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.582 110124 chr14 74766869 74766869 C G rs147446660 ABCD4 Nonsynonymous SNV L47F 0.009 0.016 0 3 11 6 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 110125 chr16 10534287 10534287 C T rs192018149 ATF7IP2 Nonsynonymous SNV P388S 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 14.99 110126 chr16 10783113 10783113 A G rs17684500 TEKT5 Nonsynonymous SNV M239T 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 19.46 110127 chr14 75513222 75513222 C T rs201303087 MLH3 Nonsynonymous SNV R1046Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.48 110128 chr14 24040425 24040425 C T rs150308819 JPH4 Synonymous SNV Q505Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.547 110129 chr21 28296769 28296769 A G ADAMTS5 Nonsynonymous SNV I799T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 110130 chr12 1965235 1965235 G A rs151121191 CACNA2D4 Nonsynonymous SNV L699F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 20.8 110131 chr16 12223531 12223531 C T rs201891583 SNX29 Nonsynonymous SNV A504V 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 5.976 110132 chr14 77605926 77605926 C A ZDHHC22 Synonymous SNV A52A 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 20.9 110133 chr14 64935152 64935152 G A AKAP5 Nonsynonymous SNV D14N 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 25 110134 chr14 65270454 65270454 A G rs17180518 SPTB Synonymous SNV N115N 0.003 0.008 0.014 3 4 3 0.008 4 0 0 0 0 Uncertain significance 1.47 110135 chr11 96117364 96117364 T C CCDC82 Nonsynonymous SNV K183R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 110136 chr16 1396026 1396026 C T rs143578932 BAIAP3 Nonsynonymous SNV R714W 0.003 0.005 0 7 4 2 0.018 0 0 1 0 0 23.9 110137 chr21 33974649 33974649 G A CFAP298 Nonsynonymous SNV P133L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 110138 chr16 14306227 14306227 G T rs756700929 MRTFB Synonymous SNV A68A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 110139 chr4 3076636 3076637 GC - rs767553699 HTT Q29Afs*53 0.006 0.003 0.003 4 7 1 0.01 1 1 0 0 0 110140 chr4 3076639 3076654 GCAGCAGCAGCAGCAG - rs760691860 HTT Q29Hfs*67 0.006 0.003 0.003 4 7 1 0.01 1 1 0 0 0 110141 chr14 31765126 31765126 T C rs61741258 HEATR5A Nonsynonymous SNV K1870E 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 17.02 110142 chr14 31814427 31814427 T C rs371331992 HEATR5A Nonsynonymous SNV Y975C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 110143 chr14 73731305 73731305 T C rs149182623 PAPLN Nonsynonymous SNV M999T 0.004 0.01 0 0 5 4 0 0 0 0 0 0 0.03 110144 chr14 74179955 74179955 G T rs757569822 PNMA1 Nonsynonymous SNV P130T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.719 110145 chr21 37442275 37442282 GCTCAGCG - rs756016071 LOC100133286 0 0 0.02 0 0 0 0 6 0 0 1 0 110146 chr4 5620310 5620310 G A rs116514447 EVC2 Synonymous SNV A787A 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 Benign/Likely benign 11.83 110147 chr4 5627493 5627493 G T rs73198165 EVC2 Synonymous SNV R597R 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.44 110148 chr12 2994612 2994612 A G rs142328102 RHNO1 Nonsynonymous SNV K27R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.837 110149 chr21 38563639 38563639 C T rs61740519 TTC3 Nonsynonymous SNV P955S 0.014 0.01 0.02 9 17 4 0.023 6 1 0 0 0 5.964 110150 chr21 38581028 38581028 T C rs75992575 DSCR9 0 0 0.031 0 0 0 0 9 0 0 0 0 2.596 110151 chr13 107165075 107165075 C T rs373751268 EFNB2 Nonsynonymous SNV V70I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.34 110152 chr21 40177968 40177968 C T rs543775608 ETS2 Nonsynonymous SNV P115L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 10.64 110153 chr13 109793329 109793329 C G rs200595201 MYO16 Nonsynonymous SNV S1590C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.2 110154 chr4 6302838 6302838 T G rs141585847 WFS1 Nonsynonymous SNV F439C 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely pathogenic 23.8 110155 chr21 40646353 40646353 A G rs145542359 BRWD1 Synonymous SNV F397F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.444 110156 chr14 50100571 50100571 G A DNAAF2 Nonsynonymous SNV P433S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.024 110157 chr21 40686382 40686382 A G rs9981349 BRWD1-AS2 0 0 0.078 0 0 0 0 23 0 0 0 0 5.364 110158 chr14 58955519 58955519 A G rs753485532 KIAA0586 Synonymous SNV E1096E 0.009 0 0 7 10 0 0.018 0 0 0 0 0 5.443 110159 chr4 7774565 7774565 T G rs62636594 AFAP1 Synonymous SNV S661S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 5.682 110160 chr21 43132878 43132878 T A rs11701067 LINC00479 0 0 0.197 0 0 0 0 58 0 0 12 0 0.722 110161 chr12 10977956 10977957 TG - rs765662776 TAS2R10 R305Sfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 110162 chr12 43823493 43823493 T A rs556416774 ADAMTS20 Nonsynonymous SNV K1139I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 110163 chr16 2224291 2224291 C G TRAF7 Nonsynonymous SNV L435V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 110164 chr12 43847748 43847748 G A rs139672451 ADAMTS20 Synonymous SNV G574G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.65 110165 chr21 43321851 43321851 C G C2CD2 Nonsynonymous SNV L325F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 110166 chr12 46623395 46623395 T C rs533903435 SLC38A1 Synonymous SNV R50R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.2 110167 chr12 11139079 11139079 A C TAS2R50 Nonsynonymous SNV S127R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 110168 chr16 23718096 23718096 G C rs143761786 ERN2 Nonsynonymous SNV R156G 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 15.2 110169 chr16 24166139 24166139 G T rs141827066 PRKCB Synonymous SNV P400P 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Likely benign 9.952 110170 chr15 26793024 26793024 A G rs370026053 GABRB3 Synonymous SNV N361N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Likely benign 1.189 110171 chr4 13602666 13602666 A T BOD1L1 Nonsynonymous SNV I1953N 0 0 0 2 0 0 0.005 0 0 0 0 0 25 110172 chr14 91745643 91745643 C T rs145210051 CCDC88C Synonymous SNV R1569R 0.008 0.013 0.003 1 9 5 0.003 1 0 0 0 0 Benign/Likely benign 17.73 110173 chr15 30000923 30000923 A G rs199603537 TJP1 Nonsynonymous SNV S1484P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.7 110174 chr12 112182585 112182585 A G rs138790472 ACAD10 Nonsynonymous SNV Y618C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.03 110175 chr16 27367226 27367226 C G rs3024638 IL4R Synonymous SNV T256T 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 Benign 10.26 110176 chr12 112498135 112498135 T C rs553650160 NAA25 Synonymous SNV Q462Q 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 5.045 110177 chr14 92471389 92471389 G A rs7152887 TRIP11 Synonymous SNV T976T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 0.012 110178 chr14 92622956 92622956 A G rs140484405 CPSF2 Nonsynonymous SNV T373A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 10.05 110179 chr14 68215240 68215240 G A rs147494935 ZFYVE26 Synonymous SNV S2511S 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.96 110180 chr16 2818185 2818185 C T SRRM2 Synonymous SNV S2552S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.664 110181 chr15 31775918 31775918 - CCGGCGCGCACGCCTCGT OTUD7A P786_A787insDEACAP 0.001 0 0 0 1 0 0 0 0 0 0 0 110182 chr21 45978483 45978483 G A rs182061406 KRTAP10-3 Nonsynonymous SNV P39L 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 22.2 110183 chr16 28922471 28922471 G A rs199575914 RABEP2 Synonymous SNV S308S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.54 110184 chr16 28948799 28948799 G A CD19 Nonsynonymous SNV E443K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 110185 chr4 22394275 22394275 T C ADGRA3 Synonymous SNV V840V 0 0 0 2 0 0 0.005 0 0 0 0 0 4.171 110186 chr16 28986604 28986604 G A rs368597378 SPNS1 Synonymous SNV Q44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 110187 chr21 46424507 46424507 G T rs13047060 PICSAR 0 0 0.007 0 0 0 0 2 0 0 1 0 1.177 110188 chr16 29791575 29791575 C G rs143840454 ZG16 Nonsynonymous SNV D113E 0.013 0.018 0.01 7 15 7 0.018 3 0 0 0 0 26 110189 chr4 25363513 25363513 C T rs371431629 ZCCHC4 Synonymous SNV H348H 0 0 0 2 0 0 0.005 0 0 0 0 0 14.87 110190 chr15 35149108 35149108 G A rs184384582 AQR Nonsynonymous SNV P1448L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.031 110191 chr14 73729349 73729349 C T rs11620852 PAPLN Nonsynonymous SNV A846V 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 6.08 110192 chr15 39882059 39882059 C T rs148609363 THBS1 Synonymous SNV N660N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.68 110193 chr12 118199084 118199084 G A KSR2 Nonsynonymous SNV P240S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 110194 chr16 30544158 30544158 C T ZNF747 Nonsynonymous SNV G220S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.001 110195 chr15 40328564 40328575 TGCTGTTGTTGG - rs749130159 SRP14 P124_A127del 0.015 0.003 0.003 4 18 1 0.01 1 0 0 0 0 110196 chr12 51207926 51207926 C T rs117004521 ATF1 Synonymous SNV T154T 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 12.87 110197 chr14 96157207 96157207 G A rs148257417 TCL1B Synonymous SNV A99A 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 8.751 110198 chr15 40864010 40864010 C T rs140454770 RPUSD2 Nonsynonymous SNV R211W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 110199 chr12 51723539 51723539 G A rs749350448 CELA1 Nonsynonymous SNV R230W 0.002 0 0 0 2 0 0 0 0 0 0 0 16.33 110200 chr16 31342979 31342979 A G ITGAM Nonsynonymous SNV Y1137C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 110201 chr14 72054755 72054755 C A rs12884638 SIPA1L1 Nonsynonymous SNV P56T 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Benign 20.5 110202 chr13 36220482 36220482 C T rs139508021 NBEA Synonymous SNV H361H 0.008 0.008 0.014 1 9 3 0.003 4 0 0 0 0 Likely benign 10.76 110203 chr14 75515951 75515951 A G rs61755655 MLH3 Synonymous SNV D136D 0.007 0.008 0.017 1 8 3 0.003 5 0 0 0 0 Conflicting interpretations of pathogenicity 0.021 110204 chr13 36401835 36401835 G A rs150834577 DCLK1 Synonymous SNV I141I 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 15.77 110205 chr12 52652111 52652111 C T rs147681108 KRT87P 0.008 0.01 0.014 3 9 4 0.008 4 0 0 0 0 14.1 110206 chr4 42127678 42127678 G A rs143808029 BEND4 Synonymous SNV T356T 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 12.22 110207 chr4 47571100 47571100 C T rs76283310 ATP10D Synonymous SNV L1034L 0.014 0.008 0.003 8 17 3 0.021 1 0 0 0 0 12.16 110208 chr12 52758171 52758171 G A rs77184300 KRT85 Nonsynonymous SNV P12S 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 11.67 110209 chr14 77336479 77336479 C T rs540149154 LRRC74A Nonsynonymous SNV T485M 0.002 0 0 0 2 0 0 0 0 0 0 0 6.567 110210 chr22 19207464 19207464 C G CLTCL1 Nonsynonymous SNV R950T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 110211 chr13 42789748 42789748 A G rs552593932 DGKH Nonsynonymous SNV N808S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.16 110212 chr12 52981512 52981512 G A rs61740861 KRT72 Nonsynonymous SNV R363W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 34 110213 chr15 43010655 43010655 C G STARD9 Synonymous SNV T4595T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.755 110214 chr15 43545002 43545002 C T rs141299025 TGM5 Nonsynonymous SNV V191M 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 110215 chr22 21350370 21350370 G A rs199625022 LZTR1 Nonsynonymous SNV G730S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 110216 chr14 88459468 88459468 G C rs373587692 GALC Nonsynonymous SNV A14G 0.003 0.016 0.007 0 3 6 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.026 110217 chr16 46744612 46744612 G A rs201767714 MYLK3 Nonsynonymous SNV T394I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 26.2 110218 chr15 33945073 33945073 A G rs201020040 RYR3 Nonsynonymous SNV T1433A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 20.9 110219 chr12 53443034 53443034 T C rs184796279 TNS2 0.002 0 0 0 2 0 0 0 0 0 0 0 19.66 110220 chr15 34150083 34150083 G A rs182257230 RYR3 Nonsynonymous SNV E4699K 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 Benign 27.5 110221 chr15 34158897 34158897 T G rs746733516 AVEN Nonsynonymous SNV N336H 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 22.7 110222 chr22 24237074 24237074 C T rs182012324 MIF Nonsynonymous SNV S75F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.7 110223 chr14 90442149 90442149 A G rs754747645 TDP1 Nonsynonymous SNV T261A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 110224 chr16 4945310 4945310 C G rs752842442 PPL Synonymous SNV P398P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.27 110225 chr16 5061122 5061122 C T rs143088188 SEC14L5 Synonymous SNV G609G 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 17.09 110226 chr22 25294155 25294155 A C rs6004350 SGSM1 Nonsynonymous SNV T686P 0.001 0 0.01 1 1 0 0.003 3 0 0 1 0 0.012 110227 chr13 78146303 78146303 C T rs141416270 SCEL Nonsynonymous SNV S175L 0 0.008 0 4 0 3 0.01 0 0 0 0 0 15.14 110228 chr15 51791276 51791276 A C DMXL2 Nonsynonymous SNV V1382G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 110229 chr12 132271097 132271097 G A rs773451916 SFSWAP Nonsynonymous SNV R833H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 110230 chr22 26771618 26771618 T A SEZ6L Nonsynonymous SNV S894T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 110231 chr16 54318657 54318657 G A rs770932556 IRX3 Nonsynonymous SNV A379V 0.005 0 0 0 6 0 0 0 0 0 0 0 18.66 110232 chr12 132547105 132547105 - CAG EP400 Q2748_T2749insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 110233 chr12 132625855 132625855 G A rs776807441 DDX51 Synonymous SNV L405L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.176 110234 chr12 132625856 132625856 A G rs759662661 DDX51 Nonsynonymous SNV L405P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.73 110235 chr22 29704407 29704407 C G GAS2L1 Synonymous SNV A104A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 110236 chr22 30767097 30767097 G C KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 0.693 110237 chr12 56733530 56733530 C T rs201997002 IL23A Nonsynonymous SNV S106L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 110238 chr12 56872851 56872851 C T rs371631854 GLS2 Synonymous SNV E173E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 110239 chr12 57009035 57009035 G A rs373315792 BAZ2A Synonymous SNV L165L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.086 110240 chr22 32110129 32110129 T A rs190443730 PRR14L Synonymous SNV L1232L 0.006 0.016 0.007 4 7 6 0.01 2 0 0 0 0 4.778 110241 chr15 63009867 63009867 G A TLN2 Synonymous SNV Q952Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 110242 chr12 20769270 20769270 G A rs141325069 PDE3A Nonsynonymous SNV R137Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 33 110243 chr22 37331397 37331397 G A rs141316742 CSF2RB Synonymous SNV L440L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.373 110244 chr14 104642315 104642315 C T rs760040046 KIF26A Nonsynonymous SNV R1064W 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.6 110245 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*72 0.008 0.005 0 9 9 2 0.023 0 0 0 0 0 110246 chr14 104645084 104645084 C G KIF26A Nonsynonymous SNV P1770A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.011 110247 chr14 104645992 104645992 G A rs143169161 KIF26A Synonymous SNV A1838A 0.003 0.013 0.017 3 4 5 0.008 5 0 0 0 1 16.99 110248 chr22 37471311 37471311 G A rs146266448 TMPRSS6 Synonymous SNV G402G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.2 110249 chr15 44062498 44062498 T C PDIA3 Synonymous SNV N439N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.436 110250 chr15 22835967 22835967 A G rs34465581 TUBGCP5 Synonymous SNV E66E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 10.3 110251 chr4 96045041 96045041 T C rs55980670 BMPR1B Synonymous SNV L144L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 1.935 110252 chr15 22845832 22845832 G T rs73409389 TUBGCP5 Nonsynonymous SNV Q231H 0.008 0.003 0.017 2 9 1 0.005 5 0 0 0 0 4.218 110253 chr22 37491998 37491998 G A rs139207981 TMPRSS6 Synonymous SNV A179A 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 9.534 110254 chr14 105173748 105173748 A G rs201077878 INF2 Nonsynonymous SNV S382G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 0.006 110255 chr4 96106321 96106321 C T rs151009512 UNC5C Nonsynonymous SNV M721I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.2 110256 chr12 65088684 65088684 C T rs538541097 RASSF3 Nonsynonymous SNV P237S 0.003 0 0 0 3 0 0 0 1 0 0 0 25.2 110257 chr22 37904616 37904616 G A rs139006752 CARD10 Nonsynonymous SNV A328V 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 risk factor 33 110258 chr22 38046634 38046634 G A rs376533696 SH3BP1 Synonymous SNV P500P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.127 110259 chr14 105350592 105350592 C T rs768989634 CEP170B Synonymous SNV S422S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.763 110260 chr14 105352754 105352754 G A rs369150904 CEP170B Synonymous SNV P656P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 3.564 110261 chr16 70190511 70190511 A G rs1012324763 PDPR Nonsynonymous SNV Y690C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 110262 chr15 33922154 33922154 A G rs2229119 RYR3 Nonsynonymous SNV N898S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 23.2 110263 chr15 40583635 40583635 G A PLCB2 Synonymous SNV L886L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 110264 chr15 40648332 40648332 - CCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA rs71132170 PHGR1 P47_G48insHHGPGPCGPPP 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 110265 chr22 42307309 42307309 A T SHISA8 Nonsynonymous SNV L192Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 110266 chr15 76017453 76017453 G A rs147106916 ODF3L1 Synonymous SNV P41P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.336 110267 chr22 42456981 42456981 G A NAGA Nonsynonymous SNV R350C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 110268 chr4 119745898 119745898 A G rs10029206 SEC24D Nonsynonymous SNV M42T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 14.66 110269 chr15 40616310 40616310 C T rs750609095 INAFM2 Synonymous SNV T18T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 19.61 110270 chr12 79842887 79842887 C T rs555075126 SYT1 Synonymous SNV L418L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.781 110271 chr12 80633188 80633188 T C rs573760702 OTOGL Nonsynonymous SNV Y332H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.7 110272 chr22 43901421 43901421 G A rs199956715 MPPED1 Synonymous SNV A302A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.217 110273 chr16 74729410 74729410 T G rs112620118 MLKL Nonsynonymous SNV R82S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 110274 chr15 60758905 60758905 T C rs141469235 ICE2 Nonsynonymous SNV K2R 0.023 0.026 0.02 5 27 10 0.013 6 0 0 0 0 Benign 11.52 110275 chr16 74750453 74750453 G A rs541507213 FA2H Synonymous SNV A277A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.866 110276 chr15 79755630 79755630 C T rs144425164 MINAR1 Synonymous SNV G840G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 110277 chr22 44395452 44395452 G A rs201332415 PARVB Stop gain W37X 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 110278 chr12 80998917 80998917 T C rs182230226 PTPRQ Synonymous SNV A1391A 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 8.29 110279 chr15 63940282 63940282 T C HERC1 Nonsynonymous SNV I3622V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 17.12 110280 chr14 21770689 21770689 A T RPGRIP1 Nonsynonymous SNV K178M 0.01 0.013 0 0 12 5 0 0 0 0 0 0 23.9 110281 chr15 41377731 41377731 A G INO80 Nonsynonymous SNV S237P 0.001 0 0 0 1 0 0 0 0 0 0 0 21 110282 chr22 45595893 45595893 G T KIAA0930 Synonymous SNV P292P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.557 110283 chr15 64449003 64449003 G C PPIB Nonsynonymous SNV S150C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 28.1 110284 chr14 21990204 21990204 G - rs576985829 SALL2 L889Sfs*17 0.01 0.016 0 0 12 6 0 0 0 0 0 0 110285 chr12 86373159 86373159 T C rs144502445 MGAT4C Nonsynonymous SNV I449V 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 0.471 110286 chr15 65425744 65425744 - CGC rs566766250 PDCD7 A125_P126insA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 110287 chr4 128841964 128841964 A G rs997240488 MFSD8 Nonsynonymous SNV S355P 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 28.1 110288 chr12 49692132 49692132 A C PRPH Nonsynonymous SNV Y470S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 110289 chr12 49951001 49951001 G A rs370454629 KCNH3 Nonsynonymous SNV E811K 0.002 0 0 0 2 0 0 0 0 0 0 0 23 110290 chr12 93100663 93100663 A C C12orf74 Nonsynonymous SNV K86Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.119 110291 chr15 86124712 86124712 A G rs75504327 AKAP13 Nonsynonymous SNV D1138G 0.016 0.016 0.014 2 19 6 0.005 4 0 0 0 0 16.32 110292 chr15 42436737 42436737 C T rs151072178 PLA2G4F Nonsynonymous SNV R629H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 110293 chr12 94763785 94763785 G A rs768055624 CEP83 Synonymous SNV L246L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.792 110294 chr16 82182381 82182381 T G rs35937721 MPHOSPH6 Synonymous SNV I146I 0.021 0.01 0.017 7 25 4 0.018 5 2 0 0 0 9.496 110295 chr22 50485703 50485703 A G TTLL8 Nonsynonymous SNV M132T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 110296 chr4 152583764 152583764 C G rs75005416 FAM160A1 Nonsynonymous SNV P994R 0.004 0 0.007 3 5 0 0.008 2 1 0 0 0 23.9 110297 chr16 84215885 84215885 G A rs144712825 TAF1C Nonsynonymous SNV A215V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 110298 chr4 153897094 153897094 A T rs146445614 FHDC1 Nonsynonymous SNV Q884L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.024 110299 chr15 42138188 42138188 T G JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV W515G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 110300 chr15 75185042 75185042 A G rs887249336 MPI Nonsynonymous SNV Y79C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.3 110301 chr12 52629124 52629124 G A KRT7 Synonymous SNV Q170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.128 110302 chr15 90213395 90213395 A C rs143954379 PLIN1 Synonymous SNV T138T 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 Benign 0.065 110303 chr12 52715095 52715095 C T rs778809722 KRT83 Nonsynonymous SNV G9S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 110304 chr12 52758846 52758846 C T rs375841180 KRT85 Nonsynonymous SNV E177K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 110305 chr15 52564847 52564847 T C rs758161416 MYO5C Nonsynonymous SNV D227G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 29.2 110306 chr22 50882427 50882427 C T rs149021660 PPP6R2 Synonymous SNV P878P 0.003 0.003 0.017 4 3 1 0.01 5 0 0 0 0 12.59 110307 chr15 90775660 90775660 C T CIB1 Nonsynonymous SNV A36T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.562 110308 chr15 91449093 91449093 A G MAN2A2 Nonsynonymous SNV D185G 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 110309 chr12 52964611 52964611 C T rs139463422 KRT74 Nonsynonymous SNV A284T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 18.89 110310 chr16 88496515 88496515 C T ZNF469 Synonymous SNV P879P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 110311 chr15 81199033 81199033 G C CEMIP Nonsynonymous SNV E481Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 110312 chr16 88601009 88601009 C T rs543175263 ZFPM1 Synonymous SNV L881L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 9.812 110313 chr15 62270845 62270845 T C rs140060073 VPS13C Nonsynonymous SNV Q714R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 110314 chr15 81605682 81605682 T C STARD5 Nonsynonymous SNV Q186R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 110315 chr15 59964904 59964904 C T rs1057058 BNIP2 Synonymous SNV V116V 0.022 0.018 0.02 1 26 7 0.003 6 1 0 1 0 15.93 110316 chr16 11096979 11096979 C T rs752447152 CLEC16A Nonsynonymous SNV R372W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 110317 chr15 83680278 83680278 T G rs140417286 C15orf40 Nonsynonymous SNV M28L 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 22.8 110318 chr16 88782418 88782418 G T rs373349986 PIEZO1 Synonymous SNV T2413T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.42 110319 chr13 114060846 114060846 C T rs771200492 LOC101928841 Synonymous SNV P553P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.524 110320 chr15 62315986 62315986 A G rs776116967 VPS13C Synonymous SNV R169R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.471 110321 chr15 49059275 49059275 C T rs149176738 CEP152 Synonymous SNV E754E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.94 110322 chr15 65321799 65321799 G A MTFMT Synonymous SNV L51L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 110323 chr15 50578310 50578310 T C rs949962825 GABPB1 Synonymous SNV Q330Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.271 110324 chr15 65676531 65676531 G C rs139285256 IGDCC4 Nonsynonymous SNV A1190G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.525 110325 chr16 14280859 14280859 C A MRTFB Nonsynonymous SNV L30I 0.003 0 0 0 3 0 0 0 0 0 0 0 16.1 110326 chr2 113958851 113958851 C A PSD4 Synonymous SNV P1010P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 110327 chr16 89661987 89661987 C T rs544901695 CPNE7 Synonymous SNV F505F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 110328 chr15 86814852 86814852 A T rs374208403 AGBL1 Nonsynonymous SNV M664L 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 26.9 110329 chr2 118577368 118577368 G - DDX18 G172Efs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 110330 chr15 69561200 69561200 A G rs147014086 GLCE Nonsynonymous SNV M234V 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 13.03 110331 chr16 89986498 89986498 A G rs201171524 MC1R Nonsynonymous SNV K278E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 110332 chr15 89386840 89386840 C G rs777432522 ACAN Nonsynonymous SNV P338A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 23.1 110333 chr16 15724231 15724231 C T rs202126054 MARF1 Synonymous SNV E494E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.36 110334 chr16 15790642 15790642 C T rs146284370 NDE1 Nonsynonymous SNV S291F 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 110335 chr13 32759240 32759240 G A rs200244322 FRY Nonsynonymous SNV A1092T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 110336 chr15 63421796 63421796 T C rs111647885 LACTB Synonymous SNV D355D 0.014 0.005 0.02 4 16 2 0.01 6 0 0 0 0 1.672 110337 chr5 434546 434546 C T rs61757546 AHRR Nonsynonymous SNV A568V 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 0.013 110338 chr15 73020324 73020324 C T BBS4 Nonsynonymous SNV L39F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 110339 chr12 57113548 57113548 G A NACA Nonsynonymous SNV T589I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.4 110340 chr15 75012979 75012979 G T rs41279188 CYP1A1 Nonsynonymous SNV R435S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 33 110341 chr15 74637475 74637475 C T rs58174009 CYP11A1 Nonsynonymous SNV V179I 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 18.57 110342 chr16 19547863 19547863 A G rs138258455 CCP110 Nonsynonymous SNV D291G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26.5 110343 chr13 38211338 38211338 G T rs35836067 TRPC4 Nonsynonymous SNV P706Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 110344 chr17 1371325 1371325 C T rs138350458 MYO1C Synonymous SNV E951E 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Likely benign 15.26 110345 chr5 1799001 1799001 T G rs114776273 MRPL36 Nonsynonymous SNV S17R 0.03 0.021 0.007 12 35 8 0.031 2 0 0 0 0 22.7 110346 chr16 19883991 19883991 C T rs146958511 GPRC5B Synonymous SNV V190V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.675 110347 chr15 91021017 91021017 C T rs138378081 IQGAP1 Synonymous SNV V1075V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.85 110348 chr2 136499302 136499302 A G rs997509873 LOC107985946 0 0 0.003 0 0 0 0 1 0 0 0 0 8.85 110349 chr2 138417313 138417313 A G rs16839256 THSD7B Synonymous SNV T1485T 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 6.38 110350 chr16 20682893 20682893 G A rs116960078 ACSM1 Nonsynonymous SNV H238Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 110351 chr15 69003978 69003978 T A rs138122643 CORO2B Nonsynonymous SNV L189Q 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 24.6 110352 chr15 80867439 80867439 G A ARNT2 Nonsynonymous SNV G501R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 110353 chr2 14774971 14774971 G C rs544194083 LRATD1 Nonsynonymous SNV D290H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 110354 chr12 64519890 64519890 C T rs12303060 SRGAP1 Synonymous SNV N763N 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 16.89 110355 chr16 2103368 2103368 C T rs35660529 TSC2 Nonsynonymous SNV A35V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.68 110356 chr16 1031954 1031954 C T rs200231150 SOX8 Nonsynonymous SNV P11L 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 23.5 110357 chr16 22358415 22358415 G A rs141072275 CDR2 Synonymous SNV P412P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.781 110358 chr13 49030340 49030340 G A RB1 Nonsynonymous SNV M605I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.3 110359 chr15 80263339 80263339 C T rs374413760 BCL2A1 Synonymous SNV A41A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 110360 chr15 84592695 84592695 C T rs755600253 ADAMTSL3 Nonsynonymous SNV T676I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 110361 chr16 2336739 2336739 G A rs149208294 ABCA3 Synonymous SNV P1078P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.18 110362 chr12 6638684 6638689 TCCTCT - NCAPD2 L1193_S1195delinsP 0.001 0 0 0 1 0 0 0 0 0 0 0 110363 chr5 32074683 32074683 G A rs80096746 PDZD2 Synonymous SNV S1157S 0.006 0.008 0.007 6 7 3 0.015 2 0 0 0 0 7.626 110364 chr15 83455892 83455892 T C FSD2 Nonsynonymous SNV H84R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 110365 chr14 75269262 75269262 A G rs185734577 YLPM1 Synonymous SNV E1468E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.16 110366 chr15 75132879 75132879 G A rs370092870 ULK3 Synonymous SNV D191D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.776 110367 chr16 24816437 24816437 C T rs138150358 TNRC6A Nonsynonymous SNV R1314C 0.004 0 0 2 5 0 0.005 0 0 0 0 0 34 110368 chr13 73303196 73303196 G C rs368189157 BORA Nonsynonymous SNV A40P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 110369 chr13 73303197 73303197 C T rs201154078 BORA Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 110370 chr15 85401671 85401671 G A rs55721004 ALPK3 Synonymous SNV A1234A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.382 110371 chr12 70988480 70988480 C A rs369179098 PTPRB Nonsynonymous SNV G210V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 110372 chr17 20108088 20108088 T C rs370898178 SPECC1 Synonymous SNV D161D 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.002 110373 chr14 77910655 77910655 T C VIPAS39 Synonymous SNV L129L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.958 110374 chr13 96242564 96242564 A C rs34181737 DZIP1 Nonsynonymous SNV C585W 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 110375 chr15 86312448 86312448 C T rs143930621 KLHL25 Synonymous SNV S198S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 9.457 110376 chr16 30369645 30369645 C T rs188813224 TBC1D10B Nonsynonymous SNV V683I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 110377 chr16 16184366 16184366 G T rs28364004 ABCC1 Synonymous SNV L855L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 8.673 110378 chr14 88431926 88431926 T C rs183105855 GALC Nonsynonymous SNV Y296C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 110379 chr14 100705923 100705923 C T YY1 Synonymous SNV G114G 0.002 0 0 0 2 0 0 0 0 0 0 0 19.06 110380 chr14 91700846 91700846 G A rs2540862 GPR68 Synonymous SNV R183R 0.017 0.013 0.02 10 20 5 0.026 6 1 0 0 0 0.124 110381 chr16 30980722 30980722 G A rs772634667 SETD1A Nonsynonymous SNV R956H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 110382 chr16 30980777 30980777 G A rs76415929 SETD1A Synonymous SNV S974S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.88 110383 chr14 101200780 101200780 T C rs2295660 DLK1 Synonymous SNV C233C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.362 110384 chr16 30997960 30997960 A G rs766983587 HSD3B7 Nonsynonymous SNV R156G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 110385 chr14 101201206 101201206 C T rs139584149 DLK1 Synonymous SNV S375S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 3.894 110386 chr14 91770308 91770308 C T rs112741231 CCDC88C Synonymous SNV T1124T 0.006 0.008 0.003 5 7 3 0.013 1 0 0 0 0 Benign 11.69 110387 chr15 90610804 90610804 C T rs548107680 ZNF710 Synonymous SNV G145G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.747 110388 chr16 2003981 2003981 G A rs369296013 RPL3L Nonsynonymous SNV R58W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.5 110389 chr16 2024827 2024827 G A rs373997979 TBL3 Nonsynonymous SNV R148Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.8 110390 chr16 20357506 20357506 C T rs151061376 UMOD Nonsynonymous SNV R375Q 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign 16.27 110391 chr12 85277551 85277551 C A rs144274445 SLC6A15 Synonymous SNV G281G 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 8.093 110392 chr15 91020903 91020903 G A IQGAP1 Synonymous SNV K1037K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 110393 chr5 54529340 54529340 G A CCNO Synonymous SNV P4P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 4.025 110394 chr5 54565331 54565331 C A DHX29 Synonymous SNV P1017P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 18.24 110395 chr17 26691491 26691500 CACTGAGGTG - rs782103897 SEBOX T122Vfs*11 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 110396 chr14 95057093 95057093 G A rs757910699 SERPINA5 Nonsynonymous SNV E300K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.19 110397 chr14 95058426 95058426 G T SERPINA5 Nonsynonymous SNV E357D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 110398 chr17 26940488 26940488 A G rs55990357 RSKR Synonymous SNV I98I 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 8.552 110399 chr15 90447117 90447117 G A ARPIN, ARPIN-AP3S2 Nonsynonymous SNV P134S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 110400 chr17 27041840 27041840 G A rs376343488 RAB34 Nonsynonymous SNV S228L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 110401 chr15 98513932 98513932 A G rs946923414 ARRDC4 Nonsynonymous SNV I387V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.213 110402 chr16 3639049 3639049 C T rs147315419 SLX4 Nonsynonymous SNV M1530I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.023 110403 chr15 99491831 99491831 G A rs772355972 IGF1R Nonsynonymous SNV A1206T 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 25.9 110404 chr17 27822727 27822729 AGC - rs748756440 TAOK1 A328del 0.004 0 0 1 5 0 0.003 0 0 0 0 0 110405 chr2 179465847 179465847 G C rs770499179 TTN Nonsynonymous SNV T9530R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 17.99 110406 chr16 4027536 4027536 G A rs74003485 ADCY9 Synonymous SNV T925T 0.019 0.005 0.007 6 22 2 0.015 2 0 0 0 0 Benign 9.801 110407 chr2 179490056 179490056 C T rs751929345 TTN Nonsynonymous SNV G5766E 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 23.7 110408 chr17 27958743 27958743 C T rs368474590 SSH2 Nonsynonymous SNV D1130N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 25.8 110409 chr15 91352464 91352464 G A rs140524886 BLM Synonymous SNV Q1152Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.55 110410 chr16 10531987 10531987 T C rs771781910 ATF7IP2 Synonymous SNV Y330Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 110411 chr12 94620394 94620394 G A rs772891858 PLXNC1 Nonsynonymous SNV V602I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 110412 chr14 105615514 105615514 G A rs368778866 JAG2 Synonymous SNV A544A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.019 110413 chr16 23707215 23707215 C T rs56176960 ERN2 Nonsynonymous SNV R485Q 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 35 110414 chr16 4787921 4787921 G A rs765201393 C16orf71 Nonsynonymous SNV A84T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.373 110415 chr16 25228611 25228611 G A rs138426074 AQP8 Synonymous SNV V35V 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 3.145 110416 chr12 97015496 97015496 G A rs573837653 CFAP54 Synonymous SNV E1256E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.314 110417 chr17 31324515 31324515 C A rs146053986 SPACA3 Synonymous SNV T82T 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 15.01 110418 chr12 97041745 97041745 T A rs994500574 CFAP54 Nonsynonymous SNV M1547K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.88 110419 chr16 27373966 27373966 C T rs2234899 IL4R Synonymous SNV C431C 0.014 0.016 0.01 10 17 6 0.026 3 1 0 0 0 7.569 110420 chr16 27375029 27375029 T C rs1805014 IL4R Nonsynonymous SNV S786P 0.014 0.016 0.007 10 16 6 0.026 2 0 0 0 0 Benign 21 110421 chr15 24924120 24924120 C T rs142242477 NPAP1 Nonsynonymous SNV L1036F 0.009 0.018 0 4 11 7 0.01 0 0 0 0 0 Benign 0.896 110422 chr16 27414502 27414502 G A rs117535117 IL21R Nonsynonymous SNV R4H 0.005 0.018 0.003 5 6 7 0.013 1 0 0 0 0 Uncertain significance 4.428 110423 chr16 1004496 1004496 T C LMF1 Nonsynonymous SNV M13V 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.123 110424 chr12 9875226 9875226 A T rs201336909 CLECL1 Nonsynonymous SNV I167N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 110425 chr5 71521964 71521964 G A rs114360965 MRPS27 Nonsynonymous SNV P197S 0.014 0.029 0.01 9 16 11 0.023 3 0 0 0 0 24.8 110426 chr16 12662400 12662400 C A rs200308141 SNX29 Nonsynonymous SNV P786T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.387 110427 chr16 27713010 27713010 G A KIAA0556 Nonsynonymous SNV G427E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 110428 chr13 100181829 100181829 T C rs34302265 TM9SF2 Synonymous SNV L148L 0.008 0 0 1 9 0 0.003 0 0 0 0 0 3.037 110429 chr16 11000580 11000580 C T rs201966261 CIITA Nonsynonymous SNV R411C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.7 110430 chr13 101287173 101287173 G A rs761524421 TMTC4 Synonymous SNV V334V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.049 110431 chr13 103383951 103383951 C T rs146908292 CCDC168 Nonsynonymous SNV D6366N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.6 110432 chr16 11369963 11369963 G A PRM2 Nonsynonymous SNV R89C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.96 110433 chr16 11773132 11773132 C G rs143847447 TXNDC11 Nonsynonymous SNV Q480H 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 0.002 110434 chr16 29848154 29848154 G C rs71389430 MVP Nonsynonymous SNV D262H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Likely benign 26.6 110435 chr16 29870537 29870537 G A rs149875208 CDIPT Synonymous SNV D160D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.9 110436 chr17 34893834 34893834 G A rs779287577 PIGW Nonsynonymous SNV R295Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 29.7 110437 chr16 56535283 56535283 G A rs766873519 BBS2 Nonsynonymous SNV R403C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.5 110438 chr16 29989619 29989619 G A rs150712108 TAOK2 Nonsynonymous SNV R84Q 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23.5 110439 chr17 34951481 34951481 C T rs73993036 DHRS11 Synonymous SNV D76D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.97 110440 chr13 103527869 103527869 C T rs148856875 BIVM-ERCC5, ERCC5 Synonymous SNV G1059G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 14.18 110441 chr16 1267977 1267977 C T rs567978624 CACNA1H Synonymous SNV F1788F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.3 110442 chr16 1550371 1550371 G A rs144483656 TELO2 Synonymous SNV T342T 0.012 0.01 0.003 0 14 4 0 1 0 0 0 0 15.21 110443 chr13 109550367 109550367 G A rs76952704 MYO16 Nonsynonymous SNV V555M 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Likely benign 16.78 110444 chr16 15702208 15702208 G C rs199568691 MARF1 Synonymous SNV L1374L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.847 110445 chr16 1272273 1272273 G A rs368653161 TPSG1 Nonsynonymous SNV R194W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 110446 chr15 34546701 34546701 G A rs142496698 SLC12A6 Synonymous SNV G307G 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.297 110447 chr14 23070612 23070612 C A ABHD4 Nonsynonymous SNV P22T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 110448 chr17 36485146 36485146 G A rs147966258 GPR179 Nonsynonymous SNV R1436W 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Uncertain significance 33 110449 chr16 30997429 30997429 G A rs148706735 HSD3B7 Nonsynonymous SNV A76T 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Uncertain significance 28.7 110450 chr14 23315037 23315037 G A rs756563389 MMP14 Nonsynonymous SNV R513Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 110451 chr2 197559838 197559838 A G rs369551971 CCDC150 Synonymous SNV Q194Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.218 110452 chr17 37360889 37360889 G T rs753150645 RPL19 Nonsynonymous SNV E193D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 110453 chr16 15703534 15703534 A G rs200431093 MARF1 Nonsynonymous SNV V1267A 0.004 0 0 0 5 0 0 0 0 0 0 0 25.2 110454 chr16 31927690 31927690 G A rs146914846 ZNF267 Nonsynonymous SNV R707Q 0.009 0.005 0.007 0 10 2 0 2 0 0 0 0 0.611 110455 chr14 23873940 23873940 C T rs142027794 MYH6 Nonsynonymous SNV D208N 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 Benign/Likely benign 23.1 110456 chr5 89992918 89992918 A T rs376318779 ADGRV1 Nonsynonymous SNV I2704F 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Uncertain significance 25.2 110457 chr16 20043570 20043570 G A rs775257373 GPR139 Synonymous SNV L183L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.526 110458 chr13 21370961 21370961 T A XPO4 Nonsynonymous SNV N853I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 110459 chr5 90144542 90144542 G A rs201073459 ADGRV1 Nonsynonymous SNV R5703H 0.003 0 0 8 3 0 0.021 0 0 0 0 0 Uncertain significance 34 110460 chr5 95746502 95746502 G A rs142840946 PCSK1 Synonymous SNV S357S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.32 110461 chr13 25264756 25264756 T G rs537213137 ATP12A Synonymous SNV S232S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.96 110462 chr14 31827956 31827956 C T rs61754153 HEATR5A Synonymous SNV E766E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 110463 chr2 20647430 20647430 C T rs61754182 RHOB Synonymous SNV R68R 0.007 0.008 0.014 3 8 3 0.008 4 0 0 0 0 4.994 110464 chr16 2104368 2104368 T G rs1037058497 TSC2 Synonymous SNV L99L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 1.304 110465 chr16 48399382 48399382 C T SIAH1 Nonsynonymous SNV G3R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.8 110466 chr16 69147403 69147403 G T HAS3 Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 110467 chr16 69148842 69148842 C T rs188000279 HAS3 Synonymous SNV L445L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.51 110468 chr16 69729070 69729070 T C NFAT5 Synonymous SNV A1257A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.243 110469 chr16 69776416 69776416 T C rs149583705 NOB1 Nonsynonymous SNV Q353R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.96 110470 chr17 39383280 39383283 CTGT - KRTAP9-2 V126Afs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 110471 chr16 71319581 71319581 T C rs148074898 CMTR2 Synonymous SNV K81K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.13 110472 chr5 112174540 112174540 T G rs201629780 APC Nonsynonymous SNV D1065E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign/Likely benign 9.327 110473 chr16 52473570 52473570 C T rs775772232 TOX3 Nonsynonymous SNV S433N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 110474 chr16 23700059 23700059 C T rs2230914 PLK1 Synonymous SNV Y421Y 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 14.3 110475 chr14 50088218 50088218 G A rs138365004 MGAT2 Nonsynonymous SNV A78T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 3.402 110476 chr16 24582988 24582988 C G RBBP6 Nonsynonymous SNV S1500C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.66 110477 chr16 72821640 72821642 CCA - rs541875856 ZFHX3 G2598del 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 110478 chr16 27835186 27835186 C T rs138624353 GSG1L Nonsynonymous SNV S294N 0.014 0.005 0.003 4 17 2 0.01 1 0 0 0 0 18.94 110479 chr16 28112999 28112999 C T rs199516479 XPO6 Nonsynonymous SNV R1019Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 110480 chr14 51378517 51378517 C G rs35026927 PYGL Nonsynonymous SNV D600H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 110481 chr17 39881327 39881327 T C rs41314644 HAP1 Nonsynonymous SNV I479V 0.012 0.01 0.017 5 14 4 0.013 5 0 0 0 0 Benign 0.003 110482 chr14 51410990 51410990 G A rs144280508 PYGL Synonymous SNV R44R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.44 110483 chr16 30098102 30098102 C T rs200646948 TBX6 Nonsynonymous SNV G304R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 110484 chr13 42761232 42761232 C T rs375491822 DGKH Nonsynonymous SNV T284M 0.003 0 0 0 4 0 0 0 0 0 0 0 21.9 110485 chr16 57490512 57490512 C T rs774168768 COQ9 Nonsynonymous SNV R159C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.5 110486 chr16 29818691 29818691 C T rs369693841 MAZ Synonymous SNV C195C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.17 110487 chr16 30964933 30964933 C T rs145840723 ORAI3 Nonsynonymous SNV P219L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 110488 chr14 58030900 58030900 G T rs202119323 SLC35F4 Synonymous SNV R470R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.14 110489 chr16 57789053 57789053 C G rs150516698 KATNB1 Nonsynonymous SNV P440R 0.021 0.013 0.017 7 25 5 0.018 5 0 0 0 0 22.6 110490 chr16 31122416 31122416 C T rs374121679 BCKDK Synonymous SNV L241L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.22 110491 chr5 132149634 132149634 G A rs1031776495 SOWAHA Synonymous SNV S107S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.77 110492 chr14 59014563 59014563 G A rs45568037 KIAA0586 Nonsynonymous SNV V1549I 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 Benign 10.63 110493 chr16 818500 818500 - GCTGGG rs770393508 MSLN L586_Q587insGL 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 110494 chr5 133477951 133477951 G A rs34995273 TCF7 Synonymous SNV V97V 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 10.07 110495 chr13 49885037 49885037 T G rs147754748 CAB39L Nonsynonymous SNV Q309H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.131 110496 chr2 219694797 219694797 G A rs141838287 PRKAG3 Synonymous SNV P179P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.89 110497 chr16 31488272 31488272 C T TGFB1I1 Synonymous SNV L354L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 110498 chr16 3169006 3169006 C T rs770148978 ZNF205 Synonymous SNV G195G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.05 110499 chr13 51918592 51918592 C A SERPINE3 Nonsynonymous SNV T154N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.096 110500 chr16 84212790 84212790 G A rs76848314 TAF1C Synonymous SNV P457P 0.013 0.01 0.003 3 15 4 0.008 1 0 0 0 0 3.846 110501 chr13 53298212 53298212 T G rs140734619 CNMD Nonsynonymous SNV K130Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 29 110502 chr14 62462779 62462779 C T rs370890487 SYT16 Synonymous SNV F14F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.72 110503 chr17 44248791 44248791 G A rs767565501 KANSL1 Nonsynonymous SNV P240L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 8.434 110504 chr16 31473563 31473563 C T rs559586406 ARMC5 Nonsynonymous SNV A232V 0.003 0 0 0 3 0 0 0 0 0 0 0 25 110505 chr14 64194658 64194658 G A rs551935654 SGPP1 Nonsynonymous SNV S2L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 110506 chr5 138732534 138732534 T C rs145994958 SPATA24 Synonymous SNV S191S 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 3.307 110507 chr17 44950086 44950086 G A rs75199851 WNT9B Nonsynonymous SNV R94Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 110508 chr16 321084 321084 G A rs768299145 RGS11 Nonsynonymous SNV T109M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 110509 chr16 3633255 3633255 G A SLX4 Stop gain R1666X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 36 110510 chr2 223773625 223773625 C G rs141059382 ACSL3 Synonymous SNV S45S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.65 110511 chr16 67857615 67857615 G A rs62636659 TSNAXIP1 Synonymous SNV G158G 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 1.219 110512 chr17 45896392 45896392 C T OSBPL7 Nonsynonymous SNV R110H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 110513 chr16 30036527 30036527 - GGGCGGCC rs749432950 TLCD3B Frameshift insertion P218Gfs*96 0.001 0 0 0 1 0 0 0 0 0 0 0 110514 chr14 65209802 65209802 G A rs41309246 PLEKHG3 Nonsynonymous SNV R1014H 0.02 0.016 0.003 7 23 6 0.018 1 1 0 0 0 10.8 110515 chr13 96579380 96579380 A C rs62620239 UGGT2 Nonsynonymous SNV V701G 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 23.8 110516 chr13 97639021 97639021 A G rs9584456 OXGR1 Synonymous SNV I331I 0.006 0.013 0.014 0 7 5 0 4 0 0 0 0 0.01 110517 chr13 97639827 97639827 T G rs9300380 OXGR1 Synonymous SNV R63R 0.006 0.013 0.014 0 7 5 0 4 0 0 0 0 2.742 110518 chr5 140255566 140255566 A G rs200521027 PCDHA12 Nonsynonymous SNV Y170C 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 23.7 110519 chr16 87760419 87760419 G A rs138238742 KLHDC4 Synonymous SNV S180S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 110520 chr16 46696341 46696341 G A rs138794859 VPS35 Synonymous SNV A627A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 13.5 110521 chr17 47117430 47117430 T A rs61751193 IGF2BP1 Nonsynonymous SNV H265Q 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 7.737 110522 chr14 101200921 101200921 G A rs35339877 DLK1 Synonymous SNV P280P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 4.169 110523 chr14 70263688 70263688 G A rs748244007 SLC10A1 Nonsynonymous SNV A62V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.891 110524 chr14 101347762 101347762 G A rs111241221 RTL1 Nonsynonymous SNV R1122C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 24.8 110525 chr16 31075909 31075909 C T rs61750978 ZNF668 Nonsynonymous SNV D11N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.014 110526 chr16 88555502 88555502 G C rs34916016 ZFPM1 Nonsynonymous SNV G70A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.05 110527 chr14 73543031 73543031 C T rs762661994 RBM25 Synonymous SNV T37T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.38 110528 chr16 88601186 88601186 C G ZFPM1 Synonymous SNV P940P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.412 110529 chr2 231861230 231861230 C T rs201059638 SPATA3 Synonymous SNV A94A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 110530 chr16 5078125 5078125 G A rs139526942 NAGPA Nonsynonymous SNV R328C 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Uncertain significance 26.7 110531 chr14 104165877 104165877 C T rs531332562 XRCC3 Nonsynonymous SNV V200I 0.004 0 0 5 5 0 0.013 0 0 0 0 0 0.182 110532 chr16 50341041 50341041 T C ADCY7 Synonymous SNV H611H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.002 110533 chr15 75042229 75042229 G C CYP1A2 Nonsynonymous SNV L50F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.576 110534 chr17 48761063 48761063 G A rs145861811 ABCC3 Synonymous SNV P1300P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.47 110535 chr16 56419877 56419877 T C rs200380370 AMFR Nonsynonymous SNV N445S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.81 110536 chr16 55600965 55600965 T A rs144503508 CAPNS2 Nonsynonymous SNV D99E 0.009 0.008 0.01 6 10 3 0.015 3 0 0 0 0 7.253 110537 chr2 234716499 234716499 C T rs868288839 MROH2A Nonsynonymous SNV R765W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 110538 chr5 145631362 145631362 G A rs377702048 RBM27 Synonymous SNV L456L 0 0 0 3 0 0 0.008 0 0 0 0 0 11.75 110539 chr14 76452145 76452145 G C rs201966792 IFT43 Nonsynonymous SNV D6H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.4 110540 chr16 89629352 89629352 G A rs375467630 RPL13 Nonsynonymous SNV A180T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 110541 chr2 237405855 237405855 G A rs201684914 IQCA1 Nonsynonymous SNV T96M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 110542 chr16 81942086 81942086 G A rs772797149 PLCG2 Synonymous SNV T541T 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 15.09 110543 chr5 150175148 150175148 G T rs139420502 SMIM3 Nonsynonymous SNV R49L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23 110544 chr2 239039537 239039537 G A ESPNL Nonsynonymous SNV A360T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 110545 chr16 613613 613613 C G PRR35 Nonsynonymous SNV P107A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.001 110546 chr16 597110 597110 C T rs776403146 CAPN15 Nonsynonymous SNV P91L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.304 110547 chr2 239140352 239140352 - GGCCTCCGGGCCGCGGC LOC643387 0 0 0.007 0 0 0 0 2 0 0 0 0 110548 chr14 90767609 90767609 C T rs79341977 NRDE2 Nonsynonymous SNV V507M 0.012 0.01 0.007 1 14 4 0.003 2 0 0 0 0 26.9 110549 chr2 239161803 239161803 G A rs372781939 PER2 Nonsynonymous SNV S954L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 110550 chr14 90769434 90769434 G A rs769270612 NRDE2 Synonymous SNV I347I 0.001 0 0 0 1 0 0 0 0 0 0 0 14 110551 chr16 55613052 55613052 C T rs142090669 LPCAT2 Nonsynonymous SNV T449M 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 27.6 110552 chr16 67207936 67207936 C G rs558555514 NOL3 Synonymous SNV G55G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.762 110553 chr2 240036897 240036897 C T rs146432988 HDAC4 Nonsynonymous SNV R543Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 110554 chr16 67399243 67399243 A G LRRC36 Nonsynonymous SNV N126D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.99 110555 chr14 92469990 92469990 C T rs779575181 TRIP11 Nonsynonymous SNV V1443I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 110556 chr17 6331683 6331683 C T rs771211396 AIPL1 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 110557 chr17 15134364 15134364 G A rs104894619 PMP22 Nonsynonymous SNV T118M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 110558 chr16 70602369 70602369 G A SF3B3 Nonsynonymous SNV G1046R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 110559 chr2 242163366 242163367 CA - rs60985508 ANO7 Stop gain S860* 0.009 0.005 0.014 2 10 2 0.005 4 0 0 0 0 110560 chr2 242173247 242173247 G A rs2230359 HDLBP Synonymous SNV D1059D 0.011 0.003 0.017 3 13 1 0.008 5 0 0 1 0 4.719 110561 chr17 6610434 6610434 G A rs138537951 SLC13A5 Synonymous SNV Y48Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.917 110562 chr5 161116751 161116751 A G rs34826485 GABRA6 Synonymous SNV Q213Q 0.019 0.018 0.007 8 22 7 0.021 2 0 0 0 0 Benign 0.218 110563 chr16 71418717 71418717 C T rs147219246 CALB2 Nonsynonymous SNV A202V 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 25.7 110564 chr14 95056472 95056472 C T rs369065976 SERPINA5 Synonymous SNV R238R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 110565 chr16 85954841 85954841 T A IRF8 Nonsynonymous SNV S208T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.003 110566 chr17 18023501 18023501 A G rs201794569 MYO15A Nonsynonymous SNV M463V 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.897 110567 chr5 168189581 168189581 G A rs267600542 SLIT3 Nonsynonymous SNV R525C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 35 110568 chr2 26407120 26407120 A T rs116239749 GAREM2 Nonsynonymous SNV S58C 0.004 0.005 0.014 7 5 2 0.018 4 0 0 1 0 25.8 110569 chr16 72132927 72132927 G A rs143671341 DHX38 Nonsynonymous SNV R289H 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 18.82 110570 chr16 74773995 74773995 G C rs35874850 FA2H Nonsynonymous SNV P97A 0.005 0.01 0.014 0 6 4 0 4 0 0 0 0 Benign/Likely benign 0.001 110571 chr16 72993478 72993478 G A rs754777949 ZFHX3 Synonymous SNV P189P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 110572 chr16 75298363 75298363 G C rs181973321 BCAR1 Synonymous SNV L12L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.468 110573 chr14 23549948 23549948 C T rs11555803 ACIN1 Nonsynonymous SNV R217K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 110574 chr16 67865957 67865957 G A rs12102580 CENPT Nonsynonymous SNV P115L 0.009 0.003 0.017 6 10 1 0.015 5 0 0 0 0 1.764 110575 chr16 737726 737726 G A rs201231442 WDR24 Synonymous SNV S165S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.98 110576 chr5 171849488 171849488 G A rs142674400 SH3PXD2B Nonsynonymous SNV R30W 0 0 0 3 0 0 0.008 0 0 0 0 0 33 110577 chr16 67915264 67915264 C G rs138068113 EDC4 Synonymous SNV T911T 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 7.781 110578 chr16 88499793 88499793 G T rs573931575 ZNF469 Nonsynonymous SNV G1972V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Uncertain significance 4.522 110579 chr16 68012485 68012485 G A rs34504376 DPEP3 Synonymous SNV A153A 0.01 0.003 0.02 7 12 1 0.018 6 0 0 0 0 11.92 110580 chr16 77770559 77770559 C T rs781463254 NUDT7 Nonsynonymous SNV R121C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.123 110581 chr16 68382298 68382298 G A rs202214387 PRMT7 Synonymous SNV P409P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.719 110582 chr17 21217475 21217475 C A rs754209897 MAP2K3 Nonsynonymous SNV T297N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 110583 chr16 88782108 88782108 G A rs201746476 PIEZO1 Nonsynonymous SNV R2491W 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 26.7 110584 chr15 25337001 25337001 G A rs143942540 SNORD116-23 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.7 110585 chr14 24659789 24659789 T C rs747641017 TM9SF1 Synonymous SNV P408P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.176 110586 chr16 78149000 78149000 C T rs141361080 WWOX Nonsynonymous SNV R7W 0.004 0.016 0.007 2 5 6 0.005 2 0 0 0 0 Benign/Likely benign 34 110587 chr15 25962000 25962000 C T rs76685513 ATP10A Synonymous SNV A551A 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 15.38 110588 chr2 29274706 29274706 C T rs141739902 TOGARAM2 Nonsynonymous SNV A745V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 8.934 110589 chr16 89264952 89264952 G A rs549068936 SLC22A31 Nonsynonymous SNV T184I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 10.13 110590 chr14 31570401 31570401 G A rs2295532 HECTD1 Synonymous SNV L2560L 0.017 0.005 0.01 3 20 2 0.008 3 0 0 0 0 Benign 3.027 110591 chr14 31778208 31778208 C A rs544853467 HEATR5A Nonsynonymous SNV G1541V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 110592 chr17 2227655 2227655 G T rs35343613 TSR1 Nonsynonymous SNV H750Q 0.019 0.034 0.017 4 22 13 0.01 5 1 0 0 0 25 110593 chr17 7297121 7297121 G A rs2277641 PLSCR3 Synonymous SNV P14P 0.023 0.018 0.003 11 27 7 0.028 1 0 0 0 0 10.3 110594 chr17 2282779 2282779 G A rs61741902 SGSM2 Nonsynonymous SNV V996I 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 23.7 110595 chr16 89642458 89642458 G A rs74590681 CPNE7 Synonymous SNV Q51Q 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 3.664 110596 chr17 7324788 7324788 G A rs33989543 SPEM1 Nonsynonymous SNV R265Q 0.024 0.036 0.048 7 28 14 0.018 14 0 0 0 0 25.4 110597 chr17 7324852 7324852 C G rs34333422 SPEM1 Synonymous SNV P286P 0.024 0.036 0.048 7 28 14 0.018 14 0 0 0 0 2.412 110598 chr16 90097838 90097838 G T rs141234041 GAS8 Nonsynonymous SNV K49N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 24.8 110599 chr2 42281426 42281426 G A rs769194112 PKDCC Nonsynonymous SNV R338Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 110600 chr17 26942739 26942739 T C rs199588584 KIAA0100 Synonymous SNV T2013T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 2.03 110601 chr16 84922868 84922868 G A rs140282295 CRISPLD2 Synonymous SNV A446A 0.004 0.013 0.003 0 5 5 0 1 0 0 0 0 6.933 110602 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGG MYH3 T202_G203insLLCPYTSYPSWPPAEAQAQASALTLPSCQQEFCYEIKH 0.012 0.016 0 5 14 6 0.013 0 0 0 0 0 110603 chr17 11282755 11282755 G A rs777662185 SHISA6 Nonsynonymous SNV R275Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 110604 chr16 15917185 15917185 C T rs200672270 MYH11 Synonymous SNV K143K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.99 110605 chr2 49216144 49216144 C A rs142383710 FSHR Nonsynonymous SNV V166L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 110606 chr6 7393414 7393414 G A RIOK1 Nonsynonymous SNV E52K 0 0 0 3 0 0 0.008 0 0 0 0 0 10.62 110607 chr6 10556910 10556910 C G rs17637756 GCNT2 Nonsynonymous SNV P85R 0.005 0.008 0.01 5 6 3 0.013 3 0 0 0 0 Uncertain significance 16.04 110608 chr16 88722529 88722529 C T rs371444942 MVD Nonsynonymous SNV R196H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 23.5 110609 chr2 61235910 61235910 C A PUS10 Nonsynonymous SNV D123Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 110610 chr15 42439921 42439921 G A rs201010833 PLA2G4F Stop gain R367X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 36 110611 chr17 7462581 7462581 G C rs12942687 TNFSF13 Synonymous SNV G75G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.003 110612 chr15 42576217 42576217 C T rs562954349 GANC Nonsynonymous SNV P276L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 110613 chr17 34074182 34074182 C T rs201782410 GAS2L2 Nonsynonymous SNV R313H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 110614 chr14 58033218 58033218 T C rs565341682 SLC35F4 Synonymous SNV T396T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.876 110615 chr6 21594847 21594847 C G rs140231408 SOX4 Nonsynonymous SNV L28V 0.005 0 0.02 10 6 0 0.026 6 0 0 0 0 Benign 24.5 110616 chr16 8999114 8999114 G A rs375970067 USP7 Synonymous SNV H485H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.118 110617 chr16 89842176 89842176 C G rs139235751 FANCA Nonsynonymous SNV C625S 0.007 0 0 1 8 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 110618 chr17 37564953 37564953 G A MED1 Nonsynonymous SNV P1174L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 110619 chr17 3765538 3765538 G A CAMKK1 Synonymous SNV L495L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 110620 chr17 11583192 11583192 C T rs8070501 DNAH9 Nonsynonymous SNV R1158W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 28.6 110621 chr16 88807785 88807785 G A rs750738 LOC100289580 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.706 110622 chr6 28365841 28365841 C G rs572377840 ZSCAN12 Synonymous SNV G114G 0 0.003 0 5 0 1 0.013 0 0 0 0 0 12.63 110623 chr17 3808158 3808158 G A rs574005627 P2RX1 Synonymous SNV C117C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 110624 chr2 85923181 85923181 T C rs41290043 GNLY 0 0 0.003 2 0 0 0.005 1 0 0 0 0 17.11 110625 chr17 78172389 78172389 T C rs145521869 CARD14 Nonsynonymous SNV M380T 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 Uncertain significance 4.195 110626 chr17 1479936 1479936 C T rs148547690 SLC43A2 Synonymous SNV P364P 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 16.25 110627 chr17 7827069 7827069 G A KCNAB3 Synonymous SNV V336V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.286 110628 chr17 12860001 12860001 C T rs372255404 ARHGAP44 Nonsynonymous SNV S227L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 110629 chr14 65253668 65253668 G A rs147235045 SPTB Synonymous SNV A1005A 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.63 110630 chr2 88125234 88125234 T C rs550032815 RGPD2 Synonymous SNV K5K 0.004 0.003 0.054 0 5 1 0 16 0 0 0 0 0.318 110631 chr2 88327833 88327833 G A rs148657110 KRCC1 Nonsynonymous SNV R84W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.9 110632 chr17 1494566 1494566 C T rs762031567 SLC43A2 Nonsynonymous SNV A173T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.24 110633 chr17 1542119 1542119 G A rs368868827 SCARF1 Stop gain R449X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 110634 chr17 2607798 2607798 G A rs367881781 CLUH Nonsynonymous SNV A54V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.943 110635 chr17 1613495 1613495 G A rs549826797 TLCD2 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.569 110636 chr2 96907768 96907768 C A STARD7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 110637 chr2 96992371 96992371 C T rs140227055 ITPRIPL1 Nonsynonymous SNV T9I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 110638 chr17 27286153 27286153 C T rs114813876 SEZ6 Nonsynonymous SNV R666H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 20.6 110639 chr6 34826981 34826981 A G rs766591725 UHRF1BP1 Nonsynonymous SNV S950G 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 2.912 110640 chr17 7948829 7948829 C T rs145968454 ALOX15B Nonsynonymous SNV P342L 0.003 0 0 0 3 0 0 0 0 0 0 0 32 110641 chr17 79496166 79496166 G C rs549616289 FSCN2 Nonsynonymous SNV E203D 0.007 0.016 0 5 8 6 0.013 0 0 0 0 1 1.027 110642 chr17 7951149 7951149 C T rs9904554 ALOX15B Synonymous SNV G515G 0.016 0.005 0.02 0 19 2 0 6 0 0 0 0 7.809 110643 chr15 59494540 59494540 G A rs148650555 MYO1E Synonymous SNV A561A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 110644 chr14 75265654 75265654 C T rs376902765 YLPM1 Synonymous SNV L1218L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 110645 chr17 7951878 7951878 A G rs7225107 ALOX15B Nonsynonymous SNV I602V 0.016 0.003 0.014 0 19 1 0 4 0 0 0 0 22.9 110646 chr17 30190453 30190453 C T rs764420179 UTP6 Synonymous SNV A573A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.64 110647 chr17 17122409 17122409 G A rs770027312 FLCN Nonsynonymous SNV S329F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.369 110648 chr15 63916446 63916446 G A rs767041049 HERC1 Synonymous SNV Y4452Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.378 110649 chr3 10320073 10320073 G A rs913405694 TATDN2 Nonsynonymous SNV R691Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 110650 chr17 7980354 7980354 C A rs138729161 ALOX12B Nonsynonymous SNV C410F 0.003 0 0 0 3 0 0 0 0 0 0 0 17.1 110651 chr15 64747237 64747237 T A rs761696202 TRIP4 Nonsynonymous SNV L344I 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.1 110652 chr3 108308140 108308140 T C rs781571573 CIP2A Nonsynonymous SNV Q28R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 110653 chr14 81259107 81259107 A G CEP128 Synonymous SNV N519N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.154 110654 chr15 65491147 65491147 G A rs144548738 CILP Nonsynonymous SNV R493W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 110655 chr3 10967723 10967723 C T rs888538842 SLC6A11 Nonsynonymous SNV A385V 0 0 0.003 0 0 0 0 1 0 0 0 0 35 110656 chr15 66615213 66615213 C A DIS3L Synonymous SNV I379I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.64 110657 chr17 33814750 33814750 G A rs144531941 SLFN12L Synonymous SNV L3L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.01 110658 chr17 34869269 34869269 G A MYO19 Synonymous SNV V299V 0.001 0.008 0 0 1 3 0 0 0 1 0 0 16.23 110659 chr17 3550792 3550792 C T rs144751390 CTNS Nonsynonymous SNV S39L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 110660 chr3 11606300 11606300 G A VGLL4 Nonsynonymous SNV P70S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 110661 chr16 4833960 4833960 C T rs144420035 SEPTIN12 Nonsynonymous SNV V162M 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 26.9 110662 chr17 35914027 35914027 T C rs140977056 SYNRG Nonsynonymous SNV I439V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 110663 chr15 74336725 74336725 C T rs61751123 PML Synonymous SNV A675A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 15.59 110664 chr15 75013344 75013344 C T rs750520977 CYP1A1 Nonsynonymous SNV C406Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.2 110665 chr15 75503397 75503397 A C rs147136709 C15orf39 Synonymous SNV S1028S 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.044 110666 chr17 26691827 26691827 G A rs782718962 SEBOX Nonsynonymous SNV A61V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 110667 chr3 121303888 121303888 C T rs148181426 ARGFX Synonymous SNV L115L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 110668 chr3 121409654 121409654 G A rs115378554 GOLGB1 Synonymous SNV L2773L 0.015 0.005 0.003 5 18 2 0.013 1 1 0 0 0 1.91 110669 chr3 121659777 121659777 C T rs138745887 SLC15A2 Nonsynonymous SNV R674W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 110670 chr17 3850910 3850910 A G rs55837933 ATP2A3 Synonymous SNV R290R 0.002 0.013 0.01 3 2 5 0.008 3 0 0 0 0 1.229 110671 chr17 42475962 42475962 A C rs936018 GPATCH8 Nonsynonymous SNV C1083W 0.009 0.01 0.014 3 11 4 0.008 4 0 0 0 0 15.02 110672 chr17 28651845 28651845 A C TMIGD1 Nonsynonymous SNV L210R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29 110673 chr16 56904600 56904600 C T rs757460919 SLC12A3 Synonymous SNV V268V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.99 110674 chr17 38955770 38955770 C T rs146874101 KRT28 Nonsynonymous SNV G126R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.2 110675 chr15 79750384 79750384 A G MINAR1 Nonsynonymous SNV Q632R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 110676 chr17 28656430 28656430 C A rs369775545 TMIGD1 Nonsynonymous SNV W67L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 110677 chr15 80215919 80215919 T C ST20, ST20-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 110678 chr17 29227481 29227481 G A rs370890792 TEFM Nonsynonymous SNV R199C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 110679 chr15 101606029 101606029 C A rs34876840 LRRK1 Nonsynonymous SNV P1796H 0.015 0.005 0.003 3 18 2 0.008 1 0 0 0 0 Likely benign 14.68 110680 chr6 50810881 50810881 C T rs112599056 TFAP2B Synonymous SNV L387L 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 Benign 11.69 110681 chr3 125872366 125872366 G T rs145393229 ALDH1L1 Nonsynonymous SNV A159D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.166 110682 chr6 51524243 51524243 T C rs371571031 PKHD1 Nonsynonymous SNV I3561V 0 0 0 3 0 0 0.008 0 0 0 0 0 8.718 110683 chr15 85400564 85400564 C T rs114957070 ALPK3 Synonymous SNV P865P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 9.978 110684 chr3 127379948 127379948 C T rs34980487 PODXL2 Synonymous SNV L359L 0.01 0.018 0.014 2 12 7 0.005 4 0 0 0 1 15.26 110685 chr16 67266081 67266081 C T rs765913254 FHOD1 Nonsynonymous SNV R688H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 110686 chr17 48431214 48431214 G A rs145954495 XYLT2 Nonsynonymous SNV R120H 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign 18.46 110687 chr3 12926399 12926399 C T rs61739284 LINC02022 0 0 0.014 0 0 0 0 4 0 0 0 0 3.9 110688 chr6 56505175 56505175 T A rs113432929 DST Synonymous SNV S215S 0.008 0.008 0.007 8 9 3 0.021 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.353 110689 chr6 70500241 70500241 G A LMBRD1 Nonsynonymous SNV P65S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 29.1 110690 chr17 48917309 48917309 G A rs764929256 WFIKKN2 Synonymous SNV S127S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.855 110691 chr6 70951726 70951726 T G rs200194450 COL9A1 Nonsynonymous SNV S404R 0 0 0 4 0 0 0.01 0 0 0 0 0 Uncertain significance 23.5 110692 chr17 48918012 48918012 G A rs150663986 WFIKKN2 Nonsynonymous SNV V362I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.3 110693 chr17 49294738 49294738 T C rs773091323 MBTD1 Nonsynonymous SNV N148S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.297 110694 chr16 72821643 72821648 CCGCCG - rs762513291 ZFHX3 G2597_G2598del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 110695 chr15 40558087 40558087 G A rs2016902 BUB1B-PAK6, PAK6 Synonymous SNV S83S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.62 110696 chr17 37351167 37351167 C T rs751351213 CACNB1 Synonymous SNV S47S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.42 110697 chr15 40581543 40581543 T C rs936212 PLCB2 Nonsynonymous SNV E1080G 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 13.79 110698 chr6 73900338 73900338 A G rs12662818 KCNQ5 Synonymous SNV T430T 0.007 0.005 0.031 7 8 2 0.018 9 0 0 0 0 0.438 110699 chr6 73904189 73904189 A G rs35791353 KCNQ5 Synonymous SNV E507E 0.007 0.005 0.031 7 8 2 0.018 9 0 0 0 0 1.623 110700 chr3 134323250 134323250 C T rs779511507 KY Nonsynonymous SNV G370D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 110701 chr3 135721486 135721486 A C rs71336047 PPP2R3A Synonymous SNV V382V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.012 110702 chr3 135870283 135870283 G A rs34227370 MSL2 Synonymous SNV R406R 0 0.003 0.01 0 0 1 0 3 0 0 0 0 1.434 110703 chr16 75513657 75513657 A G CHST6 Nonsynonymous SNV F24L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 110704 chr3 136664749 136664749 A G rs145545353 NCK1 Nonsynonymous SNV N120S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.009 110705 chr17 38133155 38133155 C T rs138595723 GSDMA Synonymous SNV D394D 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 6.466 110706 chr17 40265832 40265832 - CAAG KAT2A Frameshift insertion S784Lfs*54 0.001 0.005 0 0 1 2 0 0 0 0 0 0 110707 chr17 38499067 38499067 G A RARA Synonymous SNV P37P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.85 110708 chr17 39084821 39084821 G A rs758635648 KRT23 Synonymous SNV V88V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.41 110709 chr17 38975369 38975369 T G rs201343749 KRT10 Nonsynonymous SNV Y473S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.068 110710 chr15 42132791 42132791 C T rs146319460 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV T51M 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 26.7 110711 chr3 141526628 141526628 G A rs141435292 GRK7 Nonsynonymous SNV V398I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 110712 chr15 42149465 42149465 C T rs371705991 SPTBN5 Synonymous SNV V2864V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.426 110713 chr6 87969918 87969918 C A ZNF292 Nonsynonymous SNV Q2191K 0.004 0 0 2 5 0 0.005 0 0 0 0 0 28.9 110714 chr15 42154799 42154799 G T rs368375132 SPTBN5 Synonymous SNV L2441L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.919 110715 chr15 42193319 42193319 C T EHD4 Nonsynonymous SNV A384T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 110716 chr3 149469218 149469218 T C rs146703562 COMMD2 Nonsynonymous SNV Y67C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 27.5 110717 chr17 39535216 39535216 C T rs117649171 KRT34 Synonymous SNV E405E 0.007 0.016 0.003 2 8 6 0.005 1 0 0 0 0 9.235 110718 chr17 6428686 6428686 G A rs61755429 PITPNM3 Synonymous SNV D72D 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign/Likely benign 9.575 110719 chr16 1273502 1273502 G A rs760753412 TPSG1 Nonsynonymous SNV R56C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 110720 chr18 64218391 64218391 T C rs139340924 CDH19 Nonsynonymous SNV T239A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 22.7 110721 chr6 109787460 109787460 A G rs142830104 ZBTB24 Nonsynonymous SNV I563T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 26.5 110722 chr15 48595029 48595029 C T rs748494597 SLC12A1 Nonsynonymous SNV P1083S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 33 110723 chr3 161147146 161147146 C A LINC02067 0 0 0.02 0 0 0 0 6 0 0 0 0 13.36 110724 chr3 161147191 161147191 A G rs763906284 LINC02067 0 0 0.075 0 0 0 0 22 0 0 0 0 12.16 110725 chr3 161220146 161220146 C T rs753710700 OTOL1 Nonsynonymous SNV P169L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 26.4 110726 chr17 40344426 40344426 C T rs149036800 GHDC Nonsynonymous SNV R241Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.3 110727 chr17 40666461 40666461 C T rs150857589 ATP6V0A1 Synonymous SNV H802H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 110728 chr17 40932732 40932732 G A rs61754324 WNK4 Nonsynonymous SNV A6T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 0.046 110729 chr6 117609714 117609714 G C rs143434059 ROS1 Nonsynonymous SNV P2329A 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.048 110730 chr17 40961483 40961483 G T rs141773326 CNTD1 Nonsynonymous SNV G225V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.877 110731 chr17 41006608 41006608 G A rs34987927 AOC3 Nonsynonymous SNV A582T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 0.002 110732 chr17 41180616 41180616 C T rs151027285 RND2 Synonymous SNV S201S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.67 110733 chr15 56736681 56736681 A G rs35775595 MNS1 Nonsynonymous SNV I216T 0.009 0.01 0.014 1 11 4 0.003 4 0 0 0 0 28 110734 chr17 41249297 41249297 G T rs55688530 BRCA1 Nonsynonymous SNV S139Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 29 110735 chr17 41341735 41341735 T C rs113187111 NBR1 Nonsynonymous SNV L183S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.737 110736 chr15 57820861 57820861 A G rs143875419 CGNL1 Nonsynonymous SNV M1017V 0.006 0 0 2 7 0 0.005 0 0 0 0 0 9.307 110737 chr17 71364601 71364601 G A rs763350090 SDK2 Synonymous SNV N1704N 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 12.15 110738 chr17 42153185 42153185 A G rs34491309 G6PC3 Nonsynonymous SNV Q272R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 15.23 110739 chr17 42225250 42225250 G A rs35879996 HROB Nonsynonymous SNV A27T 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 23.8 110740 chr17 42248205 42248205 C T rs56265171 ASB16 Synonymous SNV L16L 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 15.23 110741 chr17 42397622 42397622 G A SLC25A39 Synonymous SNV S279S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.8 110742 chr17 42429839 42429839 G C rs25647 GRN Nonsynonymous SNV G515A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 0.07 110743 chr17 42475277 42475277 C T rs200430995 GPATCH8 Nonsynonymous SNV A1312T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 110744 chr6 132910394 132910394 G C rs139894475 TAAR5 Synonymous SNV S144S 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 2.533 110745 chr17 42475833 42475833 G A rs768776392 GPATCH8 Synonymous SNV D1126D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.385 110746 chr17 42476952 42476952 C T rs77971036 GPATCH8 Synonymous SNV K753K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.09 110747 chr17 42636579 42636579 C T rs138090948 FZD2 Nonsynonymous SNV A508V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 21.4 110748 chr17 43191771 43191771 G A rs147990399 MIR6784 0.004 0 0 0 5 0 0 0 0 0 0 0 0.553 110749 chr19 1011434 1011434 G T rs149331960 TMEM259 Synonymous SNV I383I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.52 110750 chr16 23085071 23085071 C G rs114970625 USP31 Synonymous SNV P769P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 110751 chr3 183823577 183823577 C T rs199689348 HTR3E Nonsynonymous SNV L275F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 110752 chr17 4578644 4578644 T C PELP1 Nonsynonymous SNV D361G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 110753 chr3 185440047 185440047 G T rs115684700 IGF2BP2-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 3.264 110754 chr16 90103691 90103691 G C rs141125763 GAS8 Nonsynonymous SNV A78P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.2 110755 chr17 46257518 46257518 T C rs35288886 SKAP1 Nonsynonymous SNV S242G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 110756 chr15 69689764 69689764 T A rs771767949 LOC145694 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.682 110757 chr19 1052275 1052275 C T rs199498383 ABCA7 Synonymous SNV G1070G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 9.391 110758 chr3 187896882 187896882 - AG FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 110759 chr17 46847304 46847304 A C rs8080242 TTLL6 Synonymous SNV P425P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.006 110760 chr17 4803710 4803710 G A C17orf107 Stop gain W152X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 110761 chr17 46930304 46930304 A G rs764157879 CALCOCO2 Nonsynonymous SNV K239R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 13.54 110762 chr17 74004817 74004817 G A rs144924893 EVPL Nonsynonymous SNV T1512I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 110763 chr17 61898459 61898459 C T rs141577537 FTSJ3 Nonsynonymous SNV G635S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.612 110764 chr16 30116306 30116306 C T rs148974984 GDPD3 Nonsynonymous SNV E282K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 33 110765 chr17 74057215 74057215 T C SRP68 Nonsynonymous SNV I206V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 110766 chr16 30365560 30365560 A C rs183836873 CD2BP2 Nonsynonymous SNV D54E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.022 110767 chr17 12655839 12655839 G C rs200094820 MYOCD Nonsynonymous SNV V412L 0.006 0.013 0.003 7 7 5 0.018 1 0 0 0 0 4.008 110768 chr17 43319437 43319437 - CCG FMNL1 P612_G613insP 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 110769 chr19 11039505 11039505 G T TIMM29 Nonsynonymous SNV A3S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 110770 chr19 11039506 11039506 C T rs144797438 TIMM29 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 110771 chr17 48626679 48626679 T C rs767678751 SPATA20 Synonymous SNV N215N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.075 110772 chr6 154360415 154360415 - C OPRM1 Frameshift insertion L42Pfs*14 0.001 0 0 3 1 0 0.008 0 0 0 0 0 110773 chr19 11461633 11461633 C T rs540037522 CCDC159 Nonsynonymous SNV R126C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 26.7 110774 chr17 51901858 51901858 C A rs139231634 KIF2B Nonsynonymous SNV N488K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.75 110775 chr17 76100756 76100756 G A rs778091499 TNRC6C Nonsynonymous SNV A1635T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 110776 chr19 12460517 12460517 A T rs141143740 ZNF442 X559K 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 3.558 110777 chr3 197566233 197566233 A C rs148665137 LRCH3 Nonsynonymous SNV K431N 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 23.9 110778 chr17 55191888 55191888 C T rs61751974 AKAP1 Synonymous SNV F724F 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 18.34 110779 chr16 3170277 3170277 - GGC rs776988754 ZNF205 A543_G544insA 0.001 0 0 0 1 0 0 0 0 0 0 0 110780 chr6 159647533 159647533 C T rs185478935 FNDC1 Synonymous SNV N367N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 14.68 110781 chr17 6683599 6683599 C T rs139725230 FBXO39 Nonsynonymous SNV R138C 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 23.5 110782 chr17 56388295 56388295 G A rs148479487 TSPOAP1 Nonsynonymous SNV P1061S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 14.53 110783 chr6 159654832 159654832 C A rs377419969 FNDC1 Nonsynonymous SNV H1096Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.56 110784 chr3 21448176 21448179 AAAA - VENTXP7 0 0 0.024 0 0 0 0 7 0 0 3 0 110785 chr17 565106 565106 T C VPS53 Synonymous SNV Q105Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.145 110786 chr16 3434636 3434636 C A rs149224788 ZSCAN32 Nonsynonymous SNV V64F 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 13.38 110787 chr6 159688952 159688952 A G rs376099221 FNDC1 Nonsynonymous SNV I1855V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.34 110788 chr15 80414148 80414148 A G rs749879896 ZFAND6 Synonymous SNV S83S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.66 110789 chr6 160113890 160113890 C A rs5746096 SOD2 Nonsynonymous SNV S10I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.7 110790 chr16 3640620 3640620 G T rs138798067 SLX4 Nonsynonymous SNV Q1007K 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 0.008 110791 chr17 59466030 59466030 A C rs767393623 BCAS3 Nonsynonymous SNV Q904P 0.003 0 0 0 4 0 0 0 0 0 0 0 21 110792 chr19 13318685 13318690 CTGCTG - CACNA1A Q2324_Q2325del 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 110793 chr17 60749039 60749039 G A rs138715664 MRC2 Nonsynonymous SNV E383K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 110794 chr6 160553264 160553264 G A SLC22A1 Synonymous SNV R172R 0 0 0 4 0 0 0.01 0 0 0 0 0 15.31 110795 chr17 18918510 18918510 - CGGTACGGGGGTGGGGGC rs56122861 SLC5A10 R387_L388insYGGGGR 0.003 0.005 0 0 3 2 0 0 1 1 0 0 110796 chr3 37107336 37107336 G A rs149647411 LRRFIP2 Nonsynonymous SNV A234V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 110797 chr19 14247254 14247254 C G ASF1B Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 110798 chr17 19700712 19700712 A G rs141225777 ULK2 Synonymous SNV T602T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 4.389 110799 chr16 4745136 4745136 A C rs745990023 NUDT16L1 Nonsynonymous SNV K111Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 110800 chr17 77808241 77808243 GTG - rs756437476 CBX4 H400del 0.001 0 0 0 1 0 0 0 0 0 0 0 110801 chr19 1483394 1483394 C A rs138753328 PCSK4 Nonsynonymous SNV R487L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 110802 chr17 77914679 77914679 G A rs200852370 TBC1D16 Synonymous SNV D386D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 110803 chr17 71386497 71386497 C A rs138821148 SDK2 Nonsynonymous SNV R1374L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 35 110804 chr17 78032381 78032381 C T rs375199947 CCDC40 Synonymous SNV R416R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.74 110805 chr17 78039322 78039322 G T rs201739201 CCDC40 Nonsynonymous SNV R493S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 22.7 110806 chr6 167721269 167721269 G A rs148838918 UNC93A Nonsynonymous SNV A285T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.12 110807 chr15 86087167 86087167 C G rs146115074 AKAP13 Nonsynonymous SNV L215V 0.007 0 0.014 1 8 0 0.003 4 0 0 0 0 26.8 110808 chr17 64025298 64025298 G T rs149063261 CEP112 Synonymous SNV T440T 0.01 0 0 0 12 0 0 0 0 0 0 0 3.776 110809 chr17 7810324 7810324 C G rs150535094 CHD3 Synonymous SNV T1606T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 110810 chr3 38835457 38835457 G A rs34314583 SCN10A Synonymous SNV R15R 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 8.644 110811 chr17 72249909 72249909 C G TTYH2 Synonymous SNV L166L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.698 110812 chr16 4936038 4936038 A G rs750778327 PPL Nonsynonymous SNV V873A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 110813 chr3 39144244 39144244 G A rs144332029 GORASP1 Synonymous SNV G91G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 13.01 110814 chr16 50136331 50136331 G A rs150830240 HEATR3 Synonymous SNV P404P 0.004 0 0 0 5 0 0 0 0 0 0 0 14.22 110815 chr15 89382022 89382022 G A rs182894280 ACAN Nonsynonymous SNV A67T 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Uncertain significance 20.9 110816 chr19 15539118 15539118 C T rs557582446 WIZ Nonsynonymous SNV R285H 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 14.82 110817 chr19 15758051 15758051 C T rs149124841 CYP4F3 Nonsynonymous SNV R148C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 33 110818 chr7 1487384 1487384 C A rs143607097 MICALL2 Nonsynonymous SNV V118L 0.009 0.013 0.007 3 10 5 0.008 2 0 0 0 0 Benign 22.5 110819 chr17 56056610 56056610 - TGC VEZF1 Q354_H355insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 110820 chr7 2258972 2258972 T G MAD1L1 Nonsynonymous SNV Q105H 0 0 0 3 0 0 0.008 0 0 0 0 0 1.498 110821 chr17 71281788 71281788 C A CDC42EP4 Nonsynonymous SNV E284D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 110822 chr19 16606661 16606661 G A CALR3 Nonsynonymous SNV H32Y 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 110823 chr17 7366056 7366056 C T rs144235825 ZBTB4 Nonsynonymous SNV G749S 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 0.003 110824 chr17 7149612 7149612 G A CTDNEP1 Synonymous SNV D146D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.872 110825 chr17 73748558 73748558 C T rs61735288 ITGB4 Synonymous SNV D1336D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 17.01 110826 chr7 5545229 5545229 A G rs188825247 FBXL18 Synonymous SNV P17P 0.003 0.003 0.007 6 3 1 0.015 2 0 0 0 0 8.441 110827 chr17 7004906 7004906 G A rs140278403 ASGR2 Synonymous SNV G289G 0.008 0.013 0 4 9 5 0.01 0 0 0 0 0 Benign 7.411 110828 chr17 74289571 74289571 C T QRICH2 Nonsynonymous SNV V247I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.94 110829 chr16 67984300 67984300 G A rs370527087 SLC12A4 Synonymous SNV G519G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 110830 chr17 74868980 74868980 C T MGAT5B Nonsynonymous SNV T50M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 110831 chr17 74943999 74943999 G A rs750716352 MGAT5B Nonsynonymous SNV E680K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.74 110832 chr17 76399827 76399827 G A rs34088225 PGS1 Synonymous SNV P353P 0.003 0.003 0.007 0 3 1 0 2 1 0 0 0 8.736 110833 chr17 73094160 73094160 G A rs148432653 SLC16A5 Nonsynonymous SNV R76H 0.012 0.003 0 0 14 1 0 0 0 0 0 0 22.9 110834 chr17 76433807 76433807 A G rs10221268 DNAH17 Synonymous SNV I3983I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.098 110835 chr17 76445622 76445622 A G rs584102 DNAH17 Synonymous SNV P3695P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.258 110836 chr17 76455233 76455233 G A rs894977 DNAH17 Synonymous SNV A3237A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.19 110837 chr17 76494961 76494961 C T rs75305537 DNAH17-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.86 110838 chr17 76497404 76497404 G A rs61740065 DNAH17 Nonsynonymous SNV T1782I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.98 110839 chr17 76497811 76497811 G C rs77262614 DNAH17-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.036 110840 chr3 49693489 49693489 A G rs759687689 BSN Nonsynonymous SNV Y2167C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 110841 chr17 76498581 76498581 C T rs116212656 DNAH17-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.746 110842 chr19 18100552 18100552 A C rs41278194 KCNN1 Synonymous SNV R400R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 3.167 110843 chr16 72991697 72991717 GCCGCCGCCGCCGCAGCCACC - rs749457488 ZFHX3 V777_A783del 0.004 0 0 1 5 0 0.003 0 1 0 0 0 110844 chr16 733572 733572 C T rs187664088 JMJD8 Nonsynonymous SNV E87K 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 23.7 110845 chr3 49755948 49755948 C A rs138809316 AMIGO3 Nonsynonymous SNV E317D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.5 110846 chr17 76499013 76499013 G A rs61745252 DNAH17 Synonymous SNV Y1679Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.797 110847 chr3 49756499 49756499 C T rs991615684 AMIGO3 Nonsynonymous SNV A134T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.856 110848 chr17 73520380 73520380 C T rs144662042 TSEN54 Nonsynonymous SNV R490W 0.022 0.01 0.007 6 26 4 0.015 2 0 0 0 1 Benign/Likely benign 29.6 110849 chr3 49928730 49928730 C T rs771218531 MST1R Nonsynonymous SNV V1076M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 110850 chr16 11827841 11827841 C T rs774632521 TXNDC11 Nonsynonymous SNV R189Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 110851 chr17 73569701 73569701 G A rs112393371 LLGL2 Synonymous SNV P955P 0.017 0.01 0.003 4 20 4 0.01 1 0 0 0 1 8.874 110852 chr16 75513404 75513404 T A rs368924788 CHST6 Nonsynonymous SNV D108V 0.003 0 0 3 4 0 0.008 0 1 0 0 0 25.8 110853 chr19 18367995 18367995 T A rs61740699 IQCN Nonsynonymous SNV I1367F 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 9.954 110854 chr3 51669746 51669746 G A rs755337842 RAD54L2 Nonsynonymous SNV R427H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 110855 chr17 73750846 73750846 C T rs141137562 ITGB4 Nonsynonymous SNV S1433L 0.008 0 0 0 9 0 0 0 0 0 0 0 17.78 110856 chr18 21057228 21057228 C T rs56282762 RIOK3 Nonsynonymous SNV S431L 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 24.8 110857 chr3 52085026 52085026 G A rs552659867 DUSP7 Synonymous SNV N355N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.934 110858 chr16 77389861 77389861 C T rs759290262 ADAMTS18 Nonsynonymous SNV R307H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 110859 chr18 23807203 23807203 G A rs374723586 TAF4B Synonymous SNV T102T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.93 110860 chr17 7808467 7808467 C T rs146189491 CHD3 Synonymous SNV F1433F 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 19.14 110861 chr3 52547252 52547252 A G rs41292856 STAB1 Nonsynonymous SNV S1089G 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 15.29 110862 chr16 81062173 81062173 G C CENPN 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 110863 chr18 2772322 2772322 G A rs371834462 SMCHD1 Synonymous SNV S1709S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.996 110864 chr19 19329812 19329812 G C NCAN Synonymous SNV L54L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.547 110865 chr3 52727675 52727675 G C rs34216132 GNL3 Nonsynonymous SNV S451T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 17.26 110866 chr19 19377303 19377303 C T rs150912512 TM6SF2 Nonsynonymous SNV G307D 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 110867 chr17 74394374 74394374 C T rs137965500 UBE2O Nonsynonymous SNV G663S 0.001 0 0 0 1 0 0 0 0 0 0 0 26 110868 chr16 1493538 1493538 G A rs992595394 CCDC154 Nonsynonymous SNV A128V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 110869 chr17 37903087 37903087 C T rs112084267 GRB7 Synonymous SNV H512H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.15 110870 chr16 1537926 1537926 C T rs150305846 PTX4 Nonsynonymous SNV A58T 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 22.1 110871 chr3 53262360 53262360 G A rs201786364 TKT Nonsynonymous SNV R471W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 110872 chr18 33691079 33691079 A G SLC39A6 Synonymous SNV S411S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.314 110873 chr16 1687874 1687874 C T rs757614025 CRAMP1 Synonymous SNV I248I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.65 110874 chr19 21607223 21607223 C T rs115610555 ZNF493 Nonsynonymous SNV L460F 0.013 0.018 0 9 15 7 0.023 0 0 0 0 0 19.14 110875 chr19 21719440 21719440 T A rs200113769 ZNF429 Nonsynonymous SNV H131Q 0.006 0.008 0.007 3 7 3 0.008 2 0 0 0 0 20 110876 chr16 1826075 1826075 G C rs199593669 EME2 Nonsynonymous SNV E326Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 110877 chr7 35678023 35678023 G A rs143548194 HERPUD2 Nonsynonymous SNV A185V 0.005 0 0.007 4 6 0 0.01 2 0 0 0 0 11.34 110878 chr7 36327335 36327335 G A rs143353243 EEPD1 Nonsynonymous SNV D422N 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 20.3 110879 chr7 36492159 36492159 A G rs141247770 ANLN Nonsynonymous SNV I1072V 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 23.2 110880 chr17 72367973 72367973 T C rs148514779 GPR142 Nonsynonymous SNV V120A 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 110881 chr18 347218 347218 G A rs143447500 COLEC12 Nonsynonymous SNV T135M 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 10.49 110882 chr17 7976483 7976483 G C rs574970914 ALOX12B Nonsynonymous SNV R637G 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 14.74 110883 chr3 63817508 63817508 T C C3orf49 Synonymous SNV Y279Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 110884 chr17 76136994 76136994 C T rs139972217 TMC8 Nonsynonymous SNV P661L 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 22 110885 chr7 39379279 39379279 - A rs766603583 POU6F2 Frameshift insertion L213Hfs*94 0.002 0 0 3 2 0 0.008 0 0 0 0 0 110886 chr7 39379280 39379280 T G rs566759150 POU6F2 Nonsynonymous SNV L213R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 22.9 110887 chr7 39379281 39379281 - AG rs754399260 POU6F2 Frameshift insertion Q214Sfs*118 0.002 0 0 3 2 0 0.008 0 0 0 0 0 110888 chr7 39379286 39379286 T A rs558679060 POU6F2 Nonsynonymous SNV L215H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 23 110889 chr7 39379287 39379287 C G rs575735871 POU6F2 Synonymous SNV L215L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 11.79 110890 chr18 48573644 48573644 A G rs587780556 SMAD4 Synonymous SNV R76R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.123 110891 chr16 20948167 20948167 T C rs145327382 DNAH3 Nonsynonymous SNV K3842R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.7 110892 chr19 33378696 33378696 T C rs142812224 CEP89 Nonsynonymous SNV S643G 0.008 0.01 0 0 9 4 0 0 0 0 0 0 Uncertain significance 0.002 110893 chr16 2240099 2240099 G A rs778464077 CASKIN1 Synonymous SNV A73A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.62 110894 chr19 33792732 33792737 GCGGGT - rs1002805239 CEBPA H76_P77del 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 110895 chr19 3478864 3478864 A G rs143623853 SMIM24 Nonsynonymous SNV I44T 0.002 0.003 0.014 2 2 1 0.005 4 0 0 0 0 16.99 110896 chr16 2264753 2264753 T C PGP Nonsynonymous SNV D9G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 110897 chr17 8656667 8656667 G A rs566674246 SPDYE4 Nonsynonymous SNV T209M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.364 110898 chr17 78325539 78325539 C T rs111321337 RNF213 Synonymous SNV F3413F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 110899 chr17 7751038 7751038 C T rs756565038 KDM6B Nonsynonymous SNV R478C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 110900 chr16 2369797 2369797 G A rs199797218 ABCA3 Nonsynonymous SNV R220W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 110901 chr7 47408403 47408403 G A rs776972209 TNS3 Nonsynonymous SNV R614C 0.001 0.008 0 4 1 3 0.01 0 0 0 0 0 18.16 110902 chr3 9851818 9851818 T C rs141059815 TTLL3 Nonsynonymous SNV L43P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.287 110903 chr18 61228401 61228401 A G rs781096860 SERPINB12 Synonymous SNV Q176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.236 110904 chr16 2546318 2546318 C T rs202162520 TBC1D24 Nonsynonymous SNV R57C 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 110905 chr17 40330185 40330185 C T rs201093626 KCNH4 Nonsynonymous SNV R173H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 110906 chr16 89017366 89017366 C T rs936759093 LOC100129697 Synonymous SNV T280T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.61 110907 chr16 2903944 2903944 C G rs151152246 PRSS22 Nonsynonymous SNV W213C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 110908 chr18 67871369 67871369 G A rs201840025 RTTN Nonsynonymous SNV S117L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 110909 chr4 10080248 10080248 T C MIR3138 0 0 0.003 0 0 0 0 1 0 0 0 0 1.198 110910 chr16 29853318 29853318 C T rs146411255 MVP Nonsynonymous SNV R507C 0.014 0.005 0 1 17 2 0.003 0 1 0 0 0 34 110911 chr16 30100274 30100274 G A TBX6 Nonsynonymous SNV P204L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 110912 chr19 36831372 36831372 A G rs8110644 ZFP14 Synonymous SNV Y453Y 0.036 0.016 0.041 15 42 6 0.038 12 0 0 0 1 0.07 110913 chr17 79496076 79496076 C T rs368029027 FSCN2 Synonymous SNV A173A 0.003 0 0 0 4 0 0 0 0 0 0 0 9.844 110914 chr17 79514022 79514022 G A FAAP100 Synonymous SNV L696L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.256 110915 chr16 30529140 30529140 T C rs756721246 ITGAL Nonsynonymous SNV F935S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 110916 chr16 89807230 89807230 C T rs138144828 FANCA Synonymous SNV S1270S 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Likely benign 14.83 110917 chr16 89986458 89986458 C T rs181269865 MC1R Synonymous SNV I264I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.107 110918 chr18 76753761 76753761 G A rs774224204 SALL3 Synonymous SNV G590G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 110919 chr17 10295888 10295888 C T rs757938047 MYH8 Nonsynonymous SNV E1847K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 110920 chr17 10317563 10317563 C G rs142606252 MYH8 Nonsynonymous SNV Q318H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.63 110921 chr18 29867516 29867516 G A rs376929908 GAREM1 Synonymous SNV T348T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.713 110922 chr4 1090624 1090624 C T rs142187515 RNF212 Nonsynonymous SNV D59N 0 0 0.007 0 0 0 0 2 0 0 0 0 4.124 110923 chr19 38896229 38896229 G A rs374261710 FAM98C Nonsynonymous SNV R209H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 110924 chr17 10430356 10430356 G C rs777266089 MYH2 Nonsynonymous SNV L1297V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Uncertain significance 16.06 110925 chr16 3169550 3169550 C G rs755481795 ZNF205 Nonsynonymous SNV L297V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 110926 chr19 38985101 38985101 C T rs75181912 RYR1 Synonymous SNV Y2128Y 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Benign/Likely benign 12.42 110927 chr17 80543957 80543957 C T FOXK2 Nonsynonymous SNV A486V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 17.39 110928 chr17 44068928 44068928 G A rs63750612 MAPT Nonsynonymous SNV A120T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 1.723 110929 chr18 9887649 9887649 G A rs112364207 TXNDC2 Synonymous SNV K391K 0.004 0 0.01 0 5 0 0 3 0 0 0 0 7.259 110930 chr19 39214301 39214301 A C rs144831680 ACTN4 Nonsynonymous SNV K497T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 110931 chr18 10697768 10697768 C A rs917319595 PIEZO2 Nonsynonymous SNV A2156S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.3 110932 chr19 39308125 39308125 G T ECH1 Nonsynonymous SNV T147N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.19 110933 chr18 10697772 10697772 G A rs200633417 PIEZO2 Synonymous SNV I2154I 0.003 0 0 3 4 0 0.008 0 0 0 0 0 13.31 110934 chr17 12901791 12901791 A G rs150347734 ELAC2 Synonymous SNV L446L 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.501 110935 chr17 8198068 8198068 G A rs148188164 SLC25A35 Synonymous SNV L20L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.48 110936 chr16 3633211 3633211 C G rs199592185 SLX4 Nonsynonymous SNV R1680S 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 15.46 110937 chr4 120194799 120194799 G A rs61730006 USP53 Synonymous SNV T678T 0.032 0.047 0.041 12 37 18 0.031 12 1 1 0 0 14.82 110938 chr17 1542147 1542147 G A rs759337797 SCARF1 Synonymous SNV A439A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.4 110939 chr4 120214291 120214291 T C rs17517054 USP53 Synonymous SNV Y998Y 0.027 0.044 0.044 12 32 17 0.031 13 1 1 0 0 0.417 110940 chr4 120528064 120528064 A C rs17051276 PDE5A Nonsynonymous SNV S181A 0.038 0.052 0.034 13 45 20 0.033 10 2 1 0 0 8.987 110941 chr17 1630671 1630671 C T rs993965694 WDR81 Synonymous SNV L806L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.126 110942 chr18 44087609 44087609 G A rs201994383 LOXHD1 Nonsynonymous SNV R101W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 110943 chr19 41063245 41063245 G T rs770497687 SPTBN4 Nonsynonymous SNV S545I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28 110944 chr17 16552982 16552982 A G rs150984271 ZNF624 Nonsynonymous SNV V26A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.441 110945 chr19 41209674 41209674 C T rs142414537 COQ8B Synonymous SNV G180G 0.01 0.003 0.01 4 12 1 0.01 3 0 0 0 0 Benign 16.16 110946 chr17 17039562 17039573 CAGCAGCAGCAG - rs781578375 MPRIP S218_S221del 0.002 0 0 0 2 0 0 0 0 0 0 0 110947 chr17 17071190 17071190 A G rs200527530 MPRIP Synonymous SNV T2127T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.182 110948 chr18 22805641 22805641 G A rs373709979 ZNF521 Synonymous SNV N527N 0.005 0 0 0 6 0 0 0 0 0 0 0 0.498 110949 chr16 48210853 48210853 C T ABCC11 Nonsynonymous SNV V1174M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 110950 chr18 28714741 28714741 C T rs760068759 DSC1 Nonsynonymous SNV R557Q 0.003 0 0 0 3 0 0 0 0 0 0 0 34 110951 chr18 55309187 55309187 G A LOC100505549 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.244 110952 chr18 28916486 28916486 A G DSG1 Nonsynonymous SNV Y392C 0.003 0 0 0 3 0 0 0 0 0 0 0 13.09 110953 chr7 99752650 99752650 A G MAP11 Nonsynonymous SNV V307A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 110954 chr18 21752366 21752366 A G rs2077984 OSBPL1A Synonymous SNV Y212Y 0.009 0.013 0.017 3 10 5 0.008 5 0 0 0 0 2.661 110955 chr19 42489127 42489127 G T rs782140994 ATP1A3 Synonymous SNV I323I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.61 110956 chr19 42880673 42880673 G A rs770472361 MEGF8 Nonsynonymous SNV G2695R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 110957 chr19 10973856 10973856 C T rs201968790 C19orf38 Synonymous SNV F172F 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 16.7 110958 chr19 43015767 43015767 G A rs773721151 CEACAM1 Nonsynonymous SNV R368C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 110959 chr18 30846939 30846939 C T rs369246083 CCDC178 Synonymous SNV T450T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.35 110960 chr18 58039248 58039248 G A rs13447329 MC4R Nonsynonymous SNV T112M 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.928 110961 chr18 2892159 2892159 G A rs778201729 EMILIN2 Synonymous SNV Q678Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.471 110962 chr19 12575857 12575857 T G rs375339193 ZNF709 Synonymous SNV T293T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.01 110963 chr16 58077521 58077521 C T rs16959651 MMP15 Synonymous SNV S520S 0.004 0.003 0.014 4 5 1 0.01 4 0 0 0 0 14.86 110964 chr19 1364514 1364514 G A rs35452513 PWWP3A Nonsynonymous SNV R339H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 110965 chr16 58579322 58579322 G A rs572684568 CNOT1 Synonymous SNV H1355H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 110966 chr19 14194599 14194599 G A rs1037739093 C19orf67 Synonymous SNV A142A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.409 110967 chr7 100550385 100550385 C A rs768264348 MUC3A Synonymous SNV P322P 0.009 0.013 0 2 11 5 0.005 0 0 0 0 0 8.266 110968 chr7 100550421 100550421 C A rs757446266 MUC3A Synonymous SNV T334T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.39 110969 chr7 100550427 100550427 C T rs758310043 MUC3A Synonymous SNV Y336Y 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.611 110970 chr7 100550428 100550428 C T rs4729627 MUC3A Nonsynonymous SNV P337S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.238 110971 chr17 26712165 26712165 T C rs144613221 SARM1 Nonsynonymous SNV Y500H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.5 110972 chr18 43212349 43212349 G A rs577619398 SLC14A2 Nonsynonymous SNV G186R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 34 110973 chr4 167020437 167020437 G A rs376169735 TLL1 Nonsynonymous SNV G889R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 110974 chr16 68961914 68961914 C T rs201552782 TANGO6 Synonymous SNV A857A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 110975 chr18 72775717 72775717 C A rs749835782 ZNF407 Nonsynonymous SNV P2014T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.527 110976 chr17 31341046 31341046 G C rs765988975 ASIC2 Nonsynonymous SNV I492M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 110977 chr19 4511860 4511860 G A rs79731243 PLIN4 Synonymous SNV L704L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 2.885 110978 chr17 33467053 33467053 G A rs148444872 NLE1 Synonymous SNV H65H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.153 110979 chr17 33507623 33507623 C T rs140495399 UNC45B Synonymous SNV Y688Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.632 110980 chr17 33507673 33507673 G A rs76329788 UNC45B Nonsynonymous SNV C705Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.1 110981 chr16 72057193 72057193 C T rs192923495 DHODH Nonsynonymous SNV R317W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 28 110982 chr19 45176067 45176067 A G rs147526947 CEACAM19 Synonymous SNV Q85Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.021 110983 chr18 77896308 77896308 A G rs35287972 ADNP2 Synonymous SNV A1004A 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 0.01 110984 chr17 34068250 34068250 G A rs147094602 RASL10B Nonsynonymous SNV A180T 0.009 0.003 0 0 11 1 0 0 0 0 0 0 23 110985 chr18 55143940 55143940 G A rs8099788 ONECUT2 Synonymous SNV T500T 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 Benign 10.66 110986 chr19 46026931 46026931 C T rs759268813 VASP Nonsynonymous SNV T284I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 110987 chr18 55335411 55335411 C T rs138781802 LOC100505549 0.004 0.008 0 0 5 3 0 0 0 0 0 0 5.182 110988 chr19 46281439 46281439 G A rs56411618 DMPK Synonymous SNV G118G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 110989 chr17 3524663 3524663 C T rs138467771 SHPK Nonsynonymous SNV A231T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.63 110990 chr7 100684926 100684926 C T rs139132060 MUC17 Nonsynonymous SNV P3410L 0.007 0 0 6 8 0 0.015 0 0 0 0 0 12.15 110991 chr18 64172138 64172138 C T rs149876065 CDH19 Nonsynonymous SNV D744N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 110992 chr7 100692149 100692149 C T rs117698587 MUC17 Stop gain Q4187X 0.003 0 0 3 4 0 0.008 0 0 0 0 0 36 110993 chr7 100815439 100815440 GC - NAT16 Stop gain A344* 0 0 0 2 0 0 0.005 0 0 0 0 0 110994 chr7 100815448 100815448 - GTC NAT16 Stop gain S341_I369del 0 0 0 2 0 0 0.005 0 0 0 0 0 110995 chr7 100815450 100815450 C - NAT16 W340Cfs*17 0 0 0 2 0 0 0.005 0 0 0 0 0 110996 chr7 100815455 100815460 GCTGGG - NAT16 P337_Q338del 0 0 0 2 0 0 0.005 0 0 0 0 0 110997 chr4 186393372 186393372 T C rs11940504 LOC105377590 0 0 0.065 0 0 0 0 19 0 0 0 0 5.144 110998 chr18 59768393 59768393 C T rs564513512 PIGN Nonsynonymous SNV M664I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 18.25 110999 chr19 47996820 47996820 C A rs183538189 NAPA-AS1 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 2.75 111000 chr18 60027236 60027236 C T rs12721430 TNFRSF11A Synonymous SNV S190S 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Benign/Likely benign 13.14 111001 chr17 37579671 37579671 G A MED1 Nonsynonymous SNV T335I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 111002 chr19 48205304 48205304 C T rs369242399 BICRA Synonymous SNV L1439L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.797 111003 chr18 60645974 60645974 C T rs375920134 PHLPP1 Synonymous SNV S1488S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 111004 chr18 65180152 65180152 C T rs146453031 DSEL Nonsynonymous SNV R565K 0.002 0 0.003 7 2 0 0.018 1 0 0 0 0 9.128 111005 chr4 20717790 20717790 G T rs187746368 PACRGL Nonsynonymous SNV D171Y 0.008 0.008 0.024 4 9 3 0.01 7 0 0 0 0 1.149 111006 chr4 2238026 2238026 G C rs200225570 HAUS3 Nonsynonymous SNV R503G 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 23.9 111007 chr19 48967932 48967932 T C rs146272285 KCNJ14 Synonymous SNV D403D 0.009 0.005 0 5 10 2 0.013 0 0 0 0 0 0.113 111008 chr4 2420036 2420036 G A rs115545770 ZFYVE28 Synonymous SNV F5F 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 14.24 111009 chr19 49335923 49335923 G A rs143254849 HSD17B14 Nonsynonymous SNV H93Y 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 28.2 111010 chr19 49376905 49376905 C T rs137978264 PPP1R15A Nonsynonymous SNV R139C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.2 111011 chr4 3494708 3494708 G A rs532130901 DOK7 Nonsynonymous SNV R22H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 111012 chr7 127961330 127961330 G A rs138112810 RBM28 Nonsynonymous SNV R377C 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Likely benign 35 111013 chr7 127991220 127991220 G A rs959239800 PRRT4 Nonsynonymous SNV A797V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 21.4 111014 chr19 20807897 20807897 A G rs117965559 ZNF626 Synonymous SNV C262C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.916 111015 chr17 39296589 39296589 A G rs570906339 KRTAP4-6 Nonsynonymous SNV C51R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.59 111016 chr7 129915052 129915052 G T rs747755858 CPA2 Nonsynonymous SNV V184F 0.003 0 0 3 4 0 0.008 0 0 0 0 0 29 111017 chr19 49842610 49842610 G A rs58575379 CD37 Synonymous SNV K168K 0.008 0.008 0.007 6 9 3 0.015 2 0 0 0 0 14.32 111018 chr19 49852030 49852030 C G rs75100029 TEAD2 Nonsynonymous SNV G225A 0.008 0.008 0.007 6 9 3 0.015 2 0 0 0 0 Benign 0.004 111019 chr16 88495170 88495170 G A ZNF469 Nonsynonymous SNV G431E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.297 111020 chr17 73236124 73236124 A G rs28641831 GGA3 Synonymous SNV D321D 0.005 0.005 0.01 1 6 2 0.003 3 0 0 1 0 0.357 111021 chr19 49912492 49912492 C T rs114010747 CCDC155 Synonymous SNV T366T 0.008 0.008 0.007 6 9 3 0.015 2 0 0 0 0 14.03 111022 chr19 50105067 50105067 G A rs201546609 PRR12 Synonymous SNV A1555A 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 10.79 111023 chr19 50157946 50157946 T C rs2304208 SCAF1 Nonsynonymous SNV M1146T 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 13.17 111024 chr19 1506049 1506049 G A rs755037098 ADAMTSL5 Nonsynonymous SNV R461C 0.004 0.01 0 5 5 4 0.013 0 0 0 0 0 26.9 111025 chr19 50310466 50310466 G A rs12610577 FUZ Nonsynonymous SNV T364I 0.014 0.029 0.003 6 17 11 0.015 1 0 0 0 0 9.11 111026 chr19 50322482 50322482 C G rs74863643 MED25 Synonymous SNV P78P 0.014 0.029 0.003 5 16 11 0.013 1 0 0 0 0 Benign 12.92 111027 chr19 50387750 50387750 G C rs2305915 TBC1D17 Synonymous SNV P393P 0.011 0.023 0.003 4 13 9 0.01 1 0 0 0 0 13.3 111028 chr16 88792733 88792733 G A rs567917101 PIEZO1 Synonymous SNV H1309H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.915 111029 chr17 73900941 73900941 A G rs566150682 MRPL38 Nonsynonymous SNV W6R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 23.9 111030 chr19 15230807 15230807 C T rs775641218 ILVBL Nonsynonymous SNV A268T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23 111031 chr19 30101454 30101454 A G POP4 Nonsynonymous SNV K67E 0.003 0 0 0 4 0 0 0 0 0 0 0 12.94 111032 chr19 30935843 30935843 G C rs780527084 ZNF536 Synonymous SNV L458L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 111033 chr19 33116845 33116845 C A rs368580184 ANKRD27 Nonsynonymous SNV A522S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.72 111034 chr7 142562052 142562057 CCTCCT - rs753306588 EPHB6 S175_S176del 0 0 0 2 0 0 0.005 0 0 0 0 0 111035 chr17 76087676 76087676 C G rs373354032 TNRC6C Nonsynonymous SNV P1317A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.88 111036 chr7 142573614 142573614 G A rs201899094 TRPV6 Nonsynonymous SNV T309M 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 22.9 111037 chr19 10472566 10472566 G A rs748006603 TYK2 Synonymous SNV S613S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.585 111038 chr19 16284237 16284237 T C CIB3 Nonsynonymous SNV Q17R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 111039 chr19 16515522 16515522 C T rs35243922 EPS15L1 Synonymous SNV L435L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.11 111040 chr17 41835996 41835996 G A rs750870565 SOST Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.757 111041 chr7 144094560 144094560 G A rs139083352 NOBOX Nonsynonymous SNV H617Y 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Uncertain significance 1.032 111042 chr19 14028898 14028898 G A rs749472369 CC2D1A Nonsynonymous SNV G255D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.099 111043 chr4 629702 629702 T C rs62295357 PDE6B Nonsynonymous SNV Y219H 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 111044 chr19 14707930 14707930 A G rs367613657 CLEC17A Synonymous SNV E201E 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.022 111045 chr17 4436317 4436317 C T rs373355685 SPNS2 Synonymous SNV F327F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.44 111046 chr17 78063953 78063953 A G CCDC40 Nonsynonymous SNV T950A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.104 111047 chr19 17439232 17439232 G A rs760116254 ANO8 Synonymous SNV T655T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.657 111048 chr4 675710 675710 T C rs141317789 MYL5 Nonsynonymous SNV I150T 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 7.987 111049 chr19 36277787 36277787 C T rs555757553 ARHGAP33 Synonymous SNV P669P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.078 111050 chr17 46019061 46019061 G A PNPO Nonsynonymous SNV G7D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.8 111051 chr19 18084952 18084952 A G rs766592563 KCNN1 Synonymous SNV K85K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.072 111052 chr19 18266849 18266849 G A rs201370957 PIK3R2 Nonsynonymous SNV V54M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 20.1 111053 chr17 78936812 78936812 C T RPTOR Synonymous SNV G1140G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.65 111054 chr7 151814443 151814443 G T rs764593367 GALNT11 Nonsynonymous SNV V398F 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 14.79 111055 chr7 154862926 154862926 G A rs751304245 HTR5A Nonsynonymous SNV R106H 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 29.9 111056 chr19 15563528 15563528 C G rs370102998 RASAL3 Synonymous SNV T923T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.22 111057 chr17 18025140 18025140 C A rs117612144 MYO15A Nonsynonymous SNV P1009H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.54 111058 chr17 79517286 79517286 T C rs151231414 FAAP100 Nonsynonymous SNV R412G 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 1.071 111059 chr17 79977443 79977443 G A rs1002403914 CENPX Synonymous SNV D72D 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 1.255 111060 chr17 18149962 18149962 G A rs150392959 FLII Synonymous SNV T944T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.05 111061 chr17 4846201 4846201 C T rs138467394 RNF167 Synonymous SNV S110S 0.01 0.003 0.003 5 12 1 0.013 1 0 0 0 0 16.52 111062 chr7 157475517 157475517 C T rs771062413 PTPRN2 Nonsynonymous SNV G596D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.7 111063 chr17 48551332 48551332 G A rs112708565 ACSF2 Synonymous SNV T405T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.01 111064 chr7 158664253 158664253 G A rs78313003 WDR60 Nonsynonymous SNV V118I 0.014 0.01 0.014 6 17 4 0.015 4 0 0 0 0 Benign 12.2 111065 chr19 17439243 17439243 C T rs200795418 ANO8 Nonsynonymous SNV G652R 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.4 111066 chr19 2227047 2227047 C T rs779742369 DOT1L Synonymous SNV H1509H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.96 111067 chr17 80477812 80477826 GGGCGGCGGGGCCGG - rs779355780 FOXK2 A25_G29del 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 111068 chr19 39221800 39221800 C T rs375958081 CAPN12 Nonsynonymous SNV R674H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 111069 chr19 17875219 17875219 C T rs551538160 FCHO1 Nonsynonymous SNV A2V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 111070 chr19 15288695 15288695 G A rs78926093 NOTCH3 Synonymous SNV G1348G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.35 111071 chr19 18174720 18174720 C T rs141968777 IL12RB1 Synonymous SNV R528R 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.91 111072 chr17 54912290 54912290 C T DGKE Nonsynonymous SNV S45L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 111073 chr19 3025065 3025065 G A rs748307178 TLE2 Nonsynonymous SNV R28C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 34 111074 chr19 31039770 31039770 G A ZNF536 Nonsynonymous SNV G1082S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.76 111075 chr8 10555473 10555473 T G rs781534946 C8orf74 Synonymous SNV A202A 0 0 0 3 0 0 0.008 0 0 0 0 0 1.009 111076 chr19 17948810 17948810 C A rs779887883 JAK3 Synonymous SNV V544V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 10.19 111077 chr8 11420609 11420609 G A rs145686279 BLK Synonymous SNV V363V 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 Likely benign 1.903 111078 chr17 57247133 57247133 G A rs145780567 PRR11 Nonsynonymous SNV R7Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.84 111079 chr17 58503201 58503201 C T C17orf64 Nonsynonymous SNV L37F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 111080 chr19 42777030 42777030 C T rs913351451 CIC Synonymous SNV A365A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.412 111081 chr19 35524836 35524836 G A rs66876876 SCN1B Nonsynonymous SNV R214Q 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.04 111082 chr17 60088049 60088051 TCA - rs771201606 MED13 D609del 0.002 0 0 0 2 0 0 0 0 0 0 0 111083 chr19 22154591 22154674 TCTCCAGCATGAGTTGCCTTATGTTCAGTAAGTCTTGAGGGCCAGCTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTT - ZNF208 K1055_E1082del 0.012 0.013 0.003 7 14 5 0.018 1 1 0 0 0 111084 chr4 967191 967191 G A rs17855876 DGKQ Nonsynonymous SNV P27L 0 0 0.014 0 0 0 0 4 0 0 0 0 18.03 111085 chr4 96761844 96761844 T C rs61745303 PDHA2 Synonymous SNV Y181Y 0.009 0.003 0.01 5 11 1 0.013 3 0 0 0 0 0.049 111086 chr8 17611809 17611809 G C rs187072799 MTUS1 Nonsynonymous SNV P503R 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 26.6 111087 chr17 61498467 61498467 C T TANC2 Synonymous SNV G1708G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.493 111088 chr17 61869806 61869806 G A rs150380771 DDX42 Nonsynonymous SNV V86I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 111089 chr19 36041991 36041991 T C rs781158416 ATP4A Nonsynonymous SNV I970V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.77 111090 chr5 1038447 1038452 CACCAC - rs774928247 NKD2 H446_H447del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 111091 chr19 2757774 2757774 G A rs144813013 SGTA Synonymous SNV S248S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 7.641 111092 chr19 21131583 21131583 C T rs138974406 ZNF85 Nonsynonymous SNV P24L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 111093 chr17 6386883 6386883 C T rs61755430 PITPNM3 Nonsynonymous SNV V145I 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 Benign/Likely benign 24.8 111094 chr5 110002974 110002974 T C rs181213936 TMEM232 Nonsynonymous SNV K27R 0 0 0.014 0 0 0 0 4 0 0 0 0 0.042 111095 chr19 22155291 22155291 T A rs768710062 ZNF208 Nonsynonymous SNV T849S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.284 111096 chr8 21996012 21996012 G A rs543083985 REEP4 Nonsynonymous SNV R203C 0 0 0 3 0 0 0.008 0 0 0 0 0 13.08 111097 chr8 22424613 22424613 C T SORBS3 Synonymous SNV H68H 0 0 0 3 0 0 0.008 0 0 0 0 0 17.85 111098 chr5 111755670 111755670 G - rs57727790 EPB41L4A-DT 0 0 0.109 0 0 0 0 32 0 0 2 0 111099 chr19 33110404 33110404 G A rs141524480 ANKRD27 Nonsynonymous SNV S628F 0.009 0.005 0 8 10 2 0.021 0 0 0 0 0 22.5 111100 chr19 5739368 5739368 G A rs199601443 CATSPERD Nonsynonymous SNV R164H 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 0.014 111101 chr8 22974415 22974415 G A rs11780526 TNFRSF10C Synonymous SNV P217P 0.009 0.013 0.014 8 11 5 0.021 4 2 0 1 2 10.2 111102 chr18 331733 331733 G A rs34573899 COLEC12 Synonymous SNV I666I 0.015 0.031 0.017 3 18 12 0.008 5 0 1 0 0 12.91 111103 chr19 2916111 2916111 T G rs117724451 ZNF57 Nonsynonymous SNV S24A 0.016 0.018 0.014 15 19 7 0.038 4 0 0 0 0 10.61 111104 chr19 45575488 45575488 C T rs369252252 ZNF296 Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 111105 chr19 45858069 45858069 G T rs199551160 ERCC2 Synonymous SNV S528S 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Likely benign 9.428 111106 chr19 45992702 45992702 C T rs45532933 RTN2 Synonymous SNV A41A 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 13.23 111107 chr5 131323789 131323789 C T rs72793264 ACSL6 Synonymous SNV E261E 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 7.792 111108 chr19 46299312 46299312 A T rs984102186 RSPH6A Nonsynonymous SNV F657I 0.006 0 0 1 7 0 0.003 0 0 0 0 0 30 111109 chr19 36159429 36159429 G A UPK1A Nonsynonymous SNV G53E 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 18.81 111110 chr19 624890 624890 C T rs143022703 POLRMT Nonsynonymous SNV M323I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.2 111111 chr19 629887 629887 G A rs149933500 POLRMT Nonsynonymous SNV R159C 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 11.67 111112 chr18 55238687 55238687 T - FECH I134Yfs*11 0.003 0.013 0 0 3 5 0 0 0 0 0 0 111113 chr8 38285460 38285460 G A rs17175898 FGFR1 Synonymous SNV D111D 0.003 0 0 7 4 0 0.018 0 0 0 0 0 Benign 10.06 111114 chr19 36033850 36033850 C T rs760003947 GAPDHS Synonymous SNV N221N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 111115 chr19 36211008 36211008 A G rs183287776 KMT2B Synonymous SNV P253P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.07 111116 chr8 51362258 51362258 G A rs145093612 SNTG1 Nonsynonymous SNV V84I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.45 111117 chr19 375761 375761 G A rs142850072 THEG Synonymous SNV A70A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 9.179 111118 chr19 38028508 38028508 C T rs139014237 ZNF793 Synonymous SNV C316C 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 14.75 111119 chr19 7527120 7527120 C T rs140122209 ARHGEF18 Synonymous SNV G603G 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 15.01 111120 chr19 808631 808631 C T rs1058275 PTBP1 Synonymous SNV R418R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign 13.44 111121 chr8 56698370 56698370 C G rs112242681 TGS1 Nonsynonymous SNV L87V 0 0 0 2 0 0 0.005 0 0 0 0 0 23 111122 chr8 67380507 67380507 A G rs138461673 ADHFE1 Nonsynonymous SNV R442G 0 0 0 3 0 0 0.008 0 0 0 0 0 26.5 111123 chr19 37853978 37853978 C T rs150105849 ZNF875 Synonymous SNV H367H 0.01 0.005 0.007 4 12 2 0.01 2 0 0 0 0 14.16 111124 chr19 38385707 38385707 G A rs189713744 WDR87 Synonymous SNV A212A 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 3.501 111125 chr19 38102614 38102614 G A rs778084475 ZNF540 Nonsynonymous SNV V113I 0.009 0.003 0 0 10 1 0 0 0 0 0 0 0.003 111126 chr19 38684325 38684325 G A rs377738755 SIPA1L3 Nonsynonymous SNV S1582N 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 21.7 111127 chr19 38160549 38160549 T C rs140747704 ZNF781 Synonymous SNV T167T 0.01 0.008 0.007 4 12 3 0.01 2 0 0 0 0 0.541 111128 chr19 8203392 8203392 G C rs61729623 FBN3 Nonsynonymous SNV L308V 0.009 0.01 0.01 9 10 4 0.023 3 0 0 0 1 Benign 0.997 111129 chr17 39657599 39657599 C T rs150321809 KRT13 Nonsynonymous SNV R429H 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 Likely benign 11.66 111130 chr19 39098773 39098773 C T rs200476935 MAP4K1 Synonymous SNV E348E 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 9.071 111131 chr19 49949906 49949906 C T rs201618028 PIH1D1 Nonsynonymous SNV V245M 0.009 0 0 1 10 0 0.003 0 0 0 0 0 27.3 111132 chr19 44156378 44156378 G A rs4251946 PLAUR Synonymous SNV H206H 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Likely benign 0.025 111133 chr5 140754771 140754771 G A rs368044815 PCDHGA6 Nonsynonymous SNV R374Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.808 111134 chr17 40997824 40997824 G A rs148327868 AOC2 Nonsynonymous SNV R394Q 0.004 0 0 0 5 0 0 0 0 0 0 0 18.78 111135 chr19 50755983 50755983 C G rs376267080 MYH14 Nonsynonymous SNV R632G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 111136 chr17 41861256 41861256 G A rs111671689 CFAP97D1 Nonsynonymous SNV M122I 0.004 0 0 0 5 0 0 0 0 0 0 0 22.3 111137 chr8 97270738 97270738 A G rs767626221 MTERF3 Nonsynonymous SNV Y61H 0 0 0 3 0 0 0.008 0 0 0 0 0 23.9 111138 chr19 9019278 9019278 C T rs138748436 MUC16 Nonsynonymous SNV A12537T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 12.48 111139 chr17 7695252 7695252 C T rs147043611 DNAH2 Synonymous SNV G2306G 0.012 0.003 0.01 8 14 1 0.021 3 0 0 0 1 11.97 111140 chr5 14291259 14291259 G A rs61737132 TRIO Synonymous SNV L325L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 7.075 111141 chr18 9182445 9182445 G A rs114129498 ANKRD12 Synonymous SNV G5G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.33 111142 chr19 41018780 41018780 C T SPTBN4 Nonsynonymous SNV A695V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 14.97 111143 chr8 105479101 105479101 G C rs572241599 DPYS Nonsynonymous SNV N16K 0 0.005 0 5 0 2 0.013 0 0 0 0 0 26.8 111144 chr8 110493774 110493774 A C PKHD1L1 Nonsynonymous SNV Q3147P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 20.1 111145 chr5 148709344 148709344 A C rs138597939 AFAP1L1 Synonymous SNV A609A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.183 111146 chr8 110516700 110516700 T G PKHD1L1 Nonsynonymous SNV F3658C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24.4 111147 chr17 4575596 4575598 TCC - rs762265588 PELP1 E908del 0.001 0 0 0 1 0 0 0 0 0 0 0 111148 chr17 7906636 7906636 G C rs573367793 GUCY2D Nonsynonymous SNV A91P 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.632 111149 chr17 79250858 79250858 A C rs143498783 SLC38A10 Synonymous SNV L234L 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 6.605 111150 chr19 9870565 9870565 C T ZNF846 Nonsynonymous SNV A95T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 9.934 111151 chr5 150922879 150922879 C T rs368590845 FAT2 Synonymous SNV P2603P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.62 111152 chr19 1089521 1089521 C T rs146230282 POLR2E Synonymous SNV T106T 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 16.87 111153 chr5 151149784 151149784 C - rs542014973 LOC100652758 0 0 0.003 0 0 0 0 1 0 0 0 0 111154 chr17 48158680 48158680 A G rs141893882 ITGA3 Nonsynonymous SNV R943G 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 111155 chr1 1022534 1022534 C T rs183314105 C1orf159 Nonsynonymous SNV G99R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 22.1 111156 chr8 125463437 125463437 C T rs564386653 TRMT12 Nonsynonymous SNV P90L 0 0 0 3 0 0 0.008 0 0 0 0 0 0.005 111157 chr19 40354522 40354522 A G FCGBP Nonsynonymous SNV L5316P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 111158 chr17 80544055 80544152 GGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGG - FOXK2 Stop gain G519* 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 111159 chr5 155102 155102 G A rs150400514 PLEKHG4B Nonsynonymous SNV R702H 0 0.003 0.007 5 0 1 0.013 2 0 0 0 0 23.3 111160 chr19 4714260 4714260 G A rs781767492 DPP9 Nonsynonymous SNV P49L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.65 111161 chr5 156186245 156186245 G A rs145430692 SGCD Synonymous SNV A238A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.71 111162 chr17 80919049 80919049 C T rs775355207 B3GNTL1 Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.434 111163 chr17 48598687 48598687 G A rs757090009 MYCBPAP Nonsynonymous SNV G363D 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 111164 chr8 133764112 133764112 T C rs117725783 TMEM71 Nonsynonymous SNV D78G 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 24.4 111165 chr17 8110111 8110111 T A AURKB Nonsynonymous SNV E124V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 111166 chr17 8110112 8110112 C A AURKB Stop gain E124X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 111167 chr19 44739646 44739646 G A rs533916984 ZNF227 Nonsynonymous SNV E276K 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 23.3 111168 chr17 8168378 8168378 G A rs149854273 PFAS Nonsynonymous SNV A739T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 111169 chr19 53577517 53577517 C T rs34742982 ZNF160 Synonymous SNV L49L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.27 111170 chr1 110134777 110134777 G A rs61758987 GNAI3 Synonymous SNV T329T 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 Benign 9.384 111171 chr5 167489170 167489170 A G rs72824990 TENM2 Nonsynonymous SNV H240R 0.008 0.008 0.003 6 9 3 0.015 1 0 0 0 0 15.16 111172 chr5 167933034 167933034 C T RARS Stop gain Q356X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 111173 chr19 13934296 13934296 A G rs76549352 ZSWIM4 Nonsynonymous SNV M616V 0.01 0.008 0.007 1 12 3 0.003 2 0 0 0 0 23.3 111174 chr19 13941022 13941022 A C rs56177954 ZSWIM4 Nonsynonymous SNV N710H 0.013 0.008 0.01 1 15 3 0.003 3 0 0 0 0 13.59 111175 chr1 111059909 111059909 T C KCNA10 Nonsynonymous SNV N501D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.26 111176 chr19 4511825 4511825 T C rs763257547 PLIN4 Nonsynonymous SNV Q716R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 111177 chr5 170239096 170239096 A G rs374156366 GABRP Nonsynonymous SNV K386R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 111178 chr5 17275784 17275784 G A rs200993243 BASP1 Synonymous SNV A153A 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 8.563 111179 chr19 45349841 45349841 - GCT rs551542896 NECTIN2 L27_E28insL 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 111180 chr17 55194252 55194252 G A rs149147838 AKAP1 Nonsynonymous SNV A822T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 111181 chr18 13621230 13621230 G A rs143944501 LDLRAD4 Nonsynonymous SNV R62H 0.004 0.013 0.003 2 5 5 0.005 1 0 0 0 0 24.4 111182 chr17 56056605 56056607 TGC - rs369163670 VEZF1 Q354del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 111183 chr19 45448084 45448084 G A rs12691089 APOC4 Nonsynonymous SNV G52D 0.014 0.01 0.007 1 16 4 0.003 2 0 0 0 0 0.348 111184 chr19 45493732 45493732 C T rs773396556 CLPTM1 Synonymous SNV F390F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.81 111185 chr8 144103120 144103120 G A rs111560737 LY6E Nonsynonymous SNV D104N 0.007 0 0.01 8 8 0 0.021 3 0 0 0 0 Likely benign 0.054 111186 chr19 46215997 46215997 C G rs759915398 FBXO46 Nonsynonymous SNV G253R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 111187 chr17 58329766 58329766 G A rs576246445 USP32 Nonsynonymous SNV P371L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 111188 chr19 49962986 49962986 C G rs145883954 ALDH16A1 Nonsynonymous SNV T127S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 14.92 111189 chr19 46651536 46651536 A G rs377089398 IGFL2 Star tloss M1V 0.003 0.013 0.003 4 4 5 0.01 1 0 0 0 0 4.577 111190 chr19 46663981 46663981 G A rs201027157 IGFL2 Nonsynonymous SNV E62K 0.003 0.013 0.003 4 4 5 0.01 1 0 0 0 0 0.056 111191 chr19 50156733 50156733 A G rs186765168 SCAF1 Synonymous SNV E1029E 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.006 111192 chr19 46663987 46663987 C T rs199636519 IGFL2 Nonsynonymous SNV R64C 0.003 0.013 0.003 4 4 5 0.01 1 0 0 0 0 24 111193 chr5 178358837 178358837 G C ZFP2 Nonsynonymous SNV V175L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.492 111194 chr17 61490953 61490953 C T rs146084764 TANC2 Synonymous SNV I1242I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.28 111195 chr19 15565646 15565646 G A rs56209154 RASAL3 Nonsynonymous SNV R594C 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 23.5 111196 chr18 28681912 28681912 C A rs794728063 DSC2 Nonsynonymous SNV G8V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.67 111197 chr19 50771483 50771483 C T rs765237528 MYH14 Synonymous SNV A923A 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 14.02 111198 chr19 47569955 47569955 G A rs542023224 ZC3H4 Synonymous SNV F1190F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 7.191 111199 chr19 47570752 47570752 C T ZC3H4 Nonsynonymous SNV E925K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 111200 chr8 144803525 144803525 T C rs782182358 MAPK15 Nonsynonymous SNV V383A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 111201 chr19 50984149 50984149 C T rs201394073 EMC10 Nonsynonymous SNV T198M 0.003 0.008 0 7 4 3 0.018 0 0 0 0 0 25.3 111202 chr19 55758327 55758327 G A rs749052912 PPP6R1 Synonymous SNV L49L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.21 111203 chr8 144885586 144885586 G A rs781843987 SCRIB Synonymous SNV D1190D 0.002 0 0 4 2 0 0.01 0 0 0 0 0 1.176 111204 chr18 2960785 2960785 G T rs753729438 LPIN2 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.034 111205 chr19 47951134 47951134 C T rs61748880 SLC8A2 Synonymous SNV T565T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.73 111206 chr8 144944226 144944226 G A rs116925616 EPPK1 Nonsynonymous SNV R1066C 0.013 0.016 0.007 9 15 6 0.023 2 0 0 0 1 24.2 111207 chr8 144946271 144946271 C T rs58368323 EPPK1 Nonsynonymous SNV G384E 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 0.018 111208 chr5 1814464 1814464 C T rs140887831 NDUFS6 Synonymous SNV N66N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.72 111209 chr5 19721465 19721465 G A rs779371697 CDH18 Nonsynonymous SNV P212S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 111210 chr18 32826129 32826129 G A rs200069814 ZNF397 Nonsynonymous SNV G487D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 111211 chr8 145059781 145059781 C T rs146902781 PARP10 Nonsynonymous SNV G170S 0.004 0 0 6 5 0 0.015 0 0 0 0 0 Likely benign 0.532 111212 chr19 48878955 48878955 G T rs16982031 SYNGR4 Synonymous SNV G139G 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 10.13 111213 chr1 1222656 1222656 C T rs111644205 SCNN1D Synonymous SNV Y429Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 5.941 111214 chr5 33988222 33988222 C T rs150664086 C1QTNF3-AMACR 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 2.035 111215 chr8 145107980 145107980 C G rs782297847 OPLAH Nonsynonymous SNV R975P 0 0 0 1 0 0 0.003 0 0 0 0 0 24 111216 chr8 145109514 145109514 G A rs61743013 OPLAH Nonsynonymous SNV A879V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 111217 chr8 145110788 145110788 G A rs115894989 OPLAH Synonymous SNV I717I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 111218 chr19 49138862 49138862 G A DBP Synonymous SNV L175L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 111219 chr18 34174816 34174816 G A rs144223411 FHOD3 Nonsynonymous SNV A225T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 111220 chr8 145170425 145170425 G A rs187049964 WDR97 Nonsynonymous SNV R1420Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 111221 chr19 49140182 49140182 C T rs36008846 DBP Nonsynonymous SNV G24S 0.015 0.01 0.003 5 18 4 0.013 1 1 0 0 0 Likely benign 28.4 111222 chr19 56599417 56599417 G A rs763236657 ZNF787 Nonsynonymous SNV P374L 0.002 0 0 0 2 0 0 0 1 0 0 0 11.94 111223 chr5 35876449 35876449 C T rs2229232 IL7R Nonsynonymous SNV T414M 0.006 0.003 0.007 5 7 1 0.013 2 0 0 0 0 Benign 15.17 111224 chr8 145577899 145577899 C T rs116055973 TMEM249 Nonsynonymous SNV E82K 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 6.689 111225 chr8 145581950 145581950 C G rs200282665 FBXL6 Nonsynonymous SNV G53A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.839 111226 chr8 145639681 145639681 G C rs1871534 SLC39A4 Nonsynonymous SNV L347V 0.012 0.018 0.024 3 14 7 0.008 7 0 0 2 0 Benign 24.1 111227 chr19 49377191 49377191 A G PPP1R15A Nonsynonymous SNV D234G 0.001 0 0 0 1 0 0 0 0 0 0 0 22 111228 chr19 46313906 46313906 C A rs758784211 RSPH6A Synonymous SNV R281R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.21 111229 chr8 145700346 145700346 T A rs112028242 FOXH1 Nonsynonymous SNV T125S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23.2 111230 chr8 145748753 145748753 A C rs2620651 LRRC24 Synonymous SNV G216G 0.002 0 0.014 2 2 0 0.005 4 0 0 1 0 0.002 111231 chr19 49932058 49932058 C G GFY Nonsynonymous SNV P514A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23 111232 chr8 145754187 145754187 C G rs115228909 C8orf82 Synonymous SNV P38P 0.001 0 0.01 2 1 0 0.005 3 0 0 1 0 9.672 111233 chr8 145754272 145754272 G A rs75220950 C8orf82 Nonsynonymous SNV T10I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.407 111234 chr8 146067985 146067985 T C ZNF7 Nonsynonymous SNV V402A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.46 111235 chr19 57911003 57911003 G A rs199946339 ZNF548 Nonsynonymous SNV E450K 0.001 0 0.01 0 1 0 0 3 0 0 0 0 24.6 111236 chr5 442586 442586 G C rs10035612 EXOC3-AS1 0 0 0.075 0 0 0 0 22 0 0 1 0 7.159 111237 chr5 442790 442790 G A rs10035653 EXOC3-AS1 0 0 0.075 0 0 0 0 22 0 0 1 0 11.41 111238 chr17 72745313 72745313 C G rs35910969 SLC9A3R1 Nonsynonymous SNV L110V 0.009 0.013 0.01 6 10 5 0.015 3 0 0 0 0 Uncertain significance 13.54 111239 chr19 58084705 58084705 C T rs141508737 ZNF416 Synonymous SNV P117P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.619 111240 chr19 5827861 5827861 C G rs545196289 NRTN Nonsynonymous SNV R91G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.96 111241 chr19 5827871 5827871 C A rs564981794 NRTN Nonsynonymous SNV A94E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.5 111242 chr19 58291037 58291037 T C rs45558236 ZNF586 Nonsynonymous SNV I361T 0.01 0.016 0.007 0 12 6 0 2 0 0 0 0 0.009 111243 chr19 19380513 19380513 A G rs187429064 TM6SF2 Nonsynonymous SNV L156P 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 27.5 111244 chr19 58846384 58846384 G A rs111578456 ZSCAN22 Synonymous SNV A72A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.644 111245 chr19 50967605 50967605 G A rs78929637 MYBPC2 Synonymous SNV P1077P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.014 111246 chr9 6645448 6645448 C A rs535143891 GLDC Nonsynonymous SNV G18C 0.015 0.01 0 7 18 4 0.018 0 0 0 0 0 Benign/Likely benign 25.6 111247 chr17 73233599 73233599 G C rs79858696 GGA3 Nonsynonymous SNV A575G 0.029 0.008 0.007 8 34 3 0.021 2 0 0 0 0 10.97 111248 chr9 8484335 8484335 C T rs749208350 PTPRD Nonsynonymous SNV R645Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24 111249 chr19 51325080 51325080 C A rs150176879 KLK1 Stop gain E32X 0.006 0 0 3 7 0 0.008 0 0 0 0 0 22.6 111250 chr5 61923328 61923328 T C rs113210374 IPO11-LRRC70 0 0 0.024 0 0 0 0 7 0 0 0 0 10.68 111251 chr19 5119744 5119744 C A rs368897143 KDM4B Nonsynonymous SNV A399E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.67 111252 chr5 65892712 65892712 G C rs6867856 MAST4 Nonsynonymous SNV A77P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.774 111253 chr5 66406002 66406002 G T MAST4 Nonsynonymous SNV R284L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 111254 chr9 18889706 18889706 G T ADAMTSL1 Nonsynonymous SNV V1535L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.753 111255 chr9 18906726 18906726 C T rs41268985 ADAMTSL1 Synonymous SNV C1666C 0.009 0.005 0 5 11 2 0.013 0 0 0 0 0 11.76 111256 chr17 74288143 74288143 G A rs141630406 QRICH2 Nonsynonymous SNV R723C 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 111257 chr19 7506808 7506808 C T rs6603073 ARHGEF18 Synonymous SNV T168T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign 11.24 111258 chr17 74562292 74562292 C T rs139401613 ST6GALNAC2 Nonsynonymous SNV R340Q 0.004 0 0 3 5 0 0.008 0 0 0 0 0 15.64 111259 chr1 155408636 155408636 G T rs61732805 ASH1L Synonymous SNV V1770V 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 0.046 111260 chr1 155921969 155921969 C T rs368467356 ARHGEF2 Nonsynonymous SNV R681Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 111261 chr17 7485563 7485563 - GCCGTGCCTCC rs770503158 LOC100996842 Frameshift insertion D232Efs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 111262 chr19 54926820 54926820 G A TTYH1 Nonsynonymous SNV V32I 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 18.69 111263 chr17 76121963 76121963 G A rs1052987266 TMC6 Nonsynonymous SNV R92C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 111264 chr9 34894472 34894472 C T rs547146971 FAM205C Nonsynonymous SNV E73K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.516 111265 chr9 35563028 35563028 G A FAM166B Synonymous SNV V112V 0 0 0 3 0 0 0.008 0 0 0 0 0 12.41 111266 chr19 8151132 8151132 C T rs144887983 FBN3 Nonsynonymous SNV D2278N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 111267 chr17 7644145 7644145 T C rs764427454 DNAH2 Synonymous SNV Y508Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 111268 chr19 52869706 52869706 C A rs144352698 ZNF610 Nonsynonymous SNV L316I 0.012 0.01 0.014 1 14 4 0.003 4 0 0 0 0 23.9 111269 chr5 78936723 78936723 G C rs760299421 TENT2 Nonsynonymous SNV S172T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 111270 chr9 71836352 71836352 G A TJP2 Nonsynonymous SNV E302K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.76 111271 chr9 71840981 71840981 G A rs766299633 TJP2 Nonsynonymous SNV R371Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 29.1 111272 chr19 54485650 54485650 C A CACNG8 Synonymous SNV R275R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.75 111273 chr19 881629 881629 G C MED16 Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.435 111274 chr19 51885766 51885766 G A rs8111243 LIM2 Synonymous SNV S77S 0.012 0.01 0.003 3 14 4 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.6 111275 chr19 1011772 1011772 C A rs767155414 TMEM259 Nonsynonymous SNV R323L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 111276 chr19 53644913 53644913 T C ZNF347 Nonsynonymous SNV I391V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 111277 chr19 10363280 10363280 C T rs45520838 MRPL4 Nonsynonymous SNV R60C 0.007 0.003 0.007 4 8 1 0.01 2 1 0 0 0 24.9 111278 chr19 53854123 53854123 T A ZNF845 Nonsynonymous SNV N65K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.686 111279 chr19 52443894 52443894 C T rs76504285 ZNF613 Nonsynonymous SNV A56V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.003 111280 chr5 96101822 96101822 C T rs61733809 CAST Synonymous SNV Y564Y 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 Benign 10.8 111281 chr19 54387497 54387497 C T rs17854523 PRKCG Synonymous SNV D95D 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 Benign/Likely benign 15.33 111282 chr17 79094280 79094280 C T rs370038265 AATK Synonymous SNV A1049A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.9 111283 chr17 79102327 79102327 G A rs56384363 AATK Synonymous SNV D16D 0.01 0 0 0 12 0 0 0 0 0 0 0 13.24 111284 chr19 54695254 54695254 G A rs184898622 TSEN34 Synonymous SNV V13V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 11.96 111285 chr19 10568645 10568645 C T rs201753782 PDE4A Nonsynonymous SNV P84L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.05 111286 chr1 160160767 160160767 G A rs79469730 CASQ1 Nonsynonymous SNV E76K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 17.68 111287 chr6 105388263 105388264 GA - rs200408621 LIN28B-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 111288 chr19 55593837 55593837 G C rs144463157 EPS8L1 Nonsynonymous SNV G234R 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 26.7 111289 chr19 1066143 1066143 A G rs913432775 ARHGAP45 Nonsynonymous SNV D40G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.784 111290 chr19 56952615 56952615 A G rs61740673 ZNF667 Synonymous SNV Y583Y 0.017 0.01 0.014 3 20 4 0.008 4 0 0 1 0 0.002 111291 chr1 160721217 160721217 C T rs149365956 SLAMF7 Synonymous SNV Y153Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.62 111292 chr6 107040088 107040088 T C rs751930522 RTN4IP1 Nonsynonymous SNV I153V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.919 111293 chr17 79768764 79768764 C T rs189736697 GCGR Nonsynonymous SNV T76M 0.004 0 0.007 0 5 0 0 2 0 0 0 0 22.4 111294 chr6 108508508 108508508 T C rs765376051 NR2E1 Synonymous SNV Y370Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 111295 chr19 9074822 9074822 C T rs370517642 MUC16 Synonymous SNV R4208R 0.003 0 0 0 4 0 0 0 0 0 0 0 8.236 111296 chr19 3735907 3735907 C T rs370721014 TJP3 Synonymous SNV P367P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 7.982 111297 chr6 109662228 109662228 G A rs112690265 CCDC162P 0 0 0.007 0 0 0 0 2 0 0 0 0 5.7 111298 chr1 162725077 162725077 C T rs369267630 DDR2 Synonymous SNV Y183Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.28 111299 chr9 96060252 96060252 C A rs56188490 WNK2 Synonymous SNV P1942P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.25 111300 chr6 110734522 110734522 G A rs149620880 DDO Synonymous SNV A48A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 111301 chr19 53848852 53848852 A T rs763921688 ZNF845 Nonsynonymous SNV M37L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 111302 chr19 12089659 12089659 C T rs200337521 ZNF763 Nonsynonymous SNV T185I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.24 111303 chr19 57876438 57876438 G A rs765039732 TRAPPC2B Synonymous SNV G79G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.961 111304 chr19 57888602 57888602 C T rs10413160 ZNF547 Synonymous SNV T86T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.461 111305 chr19 57888803 57888803 G A rs77834888 ZNF547 Synonymous SNV G153G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.024 111306 chr19 57889271 57889271 T C rs727119 ZNF547 Synonymous SNV S309S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 4.783 111307 chr19 57905559 57905559 C T rs57057875 ZNF548 Nonsynonymous SNV P7S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.6 111308 chr19 57909889 57909889 G T rs35858487 ZNF548 Synonymous SNV L78L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.976 111309 chr19 57931425 57931425 A G rs28418770 ZNF17 Nonsynonymous SNV N189D 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 0.87 111310 chr19 12776546 12776546 A G MAN2B1 Nonsynonymous SNV L78P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 111311 chr19 9452885 9452885 C T rs148504248 ZNF559 Nonsynonymous SNV S317L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 111312 chr19 57967088 57967088 T C rs61731267 VN1R1 Nonsynonymous SNV N256S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.456 111313 chr19 12984607 12984607 C T rs767854536 MAST1 Synonymous SNV S1212S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 111314 chr19 55857679 55857679 C T rs60702338 KMT5C Synonymous SNV G223G 0.026 0.021 0.027 13 30 8 0.033 8 0 0 0 0 17.16 111315 chr19 13220992 13220992 G A rs140902656 TRMT1 Synonymous SNV A333A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.98 111316 chr19 58131901 58131901 G T rs774178655 ZNF134 Nonsynonymous SNV Q138H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.76 111317 chr19 58198297 58198297 T C rs112222442 ZNF551 Synonymous SNV N190N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.045 111318 chr19 58232221 58232221 T G rs111849914 ZNF671 Synonymous SNV T313T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.578 111319 chr19 58233781 58233781 T C rs112836145 ZNF671 Synonymous SNV A97A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.177 111320 chr1 101456140 101456140 C T rs770501400 DPH5 Nonsynonymous SNV D228N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 111321 chr6 12125259 12125259 G A rs202111023 HIVEP1 Nonsynonymous SNV S1744N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.9 111322 chr19 56109189 56109189 C T rs139910857 FIZ1 Nonsynonymous SNV A15T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.3 111323 chr19 624854 624854 G A rs769776448 POLRMT Synonymous SNV T335T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 8.457 111324 chr6 125232434 125232434 G A rs67942759 RNF217-AS1 0 0 0.041 0 0 0 0 12 0 0 1 0 5.25 111325 chr19 57088948 57088948 T C rs369171394 ZNF470 Nonsynonymous SNV I384T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 111326 chr6 125397891 125397891 G A rs73580047 RNF217 Nonsynonymous SNV R457H 0.004 0.005 0.014 6 5 2 0.015 4 0 0 0 0 23.6 111327 chr19 6502342 6502342 C A TUBB4A Nonsynonymous SNV R12L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.7 111328 chr18 11886946 11886946 T G rs61746954 MPPE1 Nonsynonymous SNV E216D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.056 111329 chr19 15198624 15198624 C T rs117343407 OR1I1 Synonymous SNV L250L 0.009 0.005 0.007 4 11 2 0.01 2 0 0 0 0 4.508 111330 chr19 57746411 57746411 C G rs55658999 AURKC Stop gain Y248X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 111331 chr9 113088502 113088502 G A rs757421109 TXNDC8 Nonsynonymous SNV H50Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.85 111332 chr9 113171114 113171114 G A rs535494842 SVEP1 Nonsynonymous SNV P2256S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.8 111333 chr19 7986592 7986592 C T rs780862302 SNAPC2 Synonymous SNV V102V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.908 111334 chr19 56005080 56005080 C T SSC5D Synonymous SNV A338A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.57 111335 chr1 17548940 17548940 C T rs41265071 PADI1 Nonsynonymous SNV A83V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.84 111336 chr18 21427606 21427606 G A rs112534534 LAMA3 Synonymous SNV E1370E 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 Benign 1.334 111337 chr6 138655607 138655609 AGG - rs777828045 ARFGEF3 E1876del 0.003 0.003 0.017 1 3 1 0.003 5 0 0 0 0 111338 chr19 42838302 42838302 G C rs146885610 MEGF8 Synonymous SNV G165G 0.009 0.008 0 1 11 3 0.003 0 0 0 0 0 Benign 0.592 111339 chr19 58437629 58437629 T A rs147202003 ZNF418 Synonymous SNV V555V 0.012 0.018 0.031 5 14 7 0.013 9 0 0 0 0 9.501 111340 chr19 58437645 58437646 GT - rs750922476 ZNF418 Stop gain T550* 0.011 0.013 0.031 5 13 5 0.013 9 0 0 0 0 111341 chr19 58437647 58437647 - GG rs756712461 ZNF418 Frameshift insertion T550Lfs*53 0.009 0.01 0.031 5 10 4 0.013 9 0 0 0 0 111342 chr19 58437654 58437654 A G rs754856969 ZNF418 Nonsynonymous SNV F547S 0.007 0.01 0.027 3 8 4 0.008 8 0 0 0 0 0.061 111343 chr19 58437657 58437665 GTTTCAGCA - rs768837080 ZNF418 A544_T546del 0.007 0.008 0.024 3 8 3 0.008 7 0 0 0 0 111344 chr18 29410900 29410900 A G rs34753792 TRAPPC8 Nonsynonymous SNV Y1376H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23.5 111345 chr19 58437669 58437669 G A rs771847469 ZNF418 Nonsynonymous SNV S542F 0.006 0.005 0.02 2 7 2 0.005 6 0 0 0 0 4.288 111346 chr9 117143606 117143606 C G rs772595773 AKNA Nonsynonymous SNV S3T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 25 111347 chr19 5931448 5931448 A G rs200736156 RANBP3 Synonymous SNV P152P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.798 111348 chr6 147684626 147684626 G T STXBP5 Nonsynonymous SNV V865L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 111349 chr19 58772321 58772321 C A rs146783829 ZNF544 Nonsynonymous SNV P89T 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 0.417 111350 chr19 58772510 58772510 A G rs143696836 ZNF544 Nonsynonymous SNV T152A 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 0.013 111351 chr19 17648208 17648208 G T rs113569844 NIBAN3 Nonsynonymous SNV D151Y 0.007 0.008 0.017 1 8 3 0.003 5 0 0 0 0 22.2 111352 chr18 32386191 32386191 A G rs150147476 DTNA Nonsynonymous SNV H124R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 11.19 111353 chr1 117568166 117568166 G A rs751950188 CD101 Nonsynonymous SNV E822K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.993 111354 chr1 117753455 117753455 A G rs34957002 VTCN1 Nonsynonymous SNV L8P 0.012 0.016 0.02 5 14 6 0.013 6 0 0 0 1 23.7 111355 chr19 17898535 17898535 A G rs779019706 FCHO1 Nonsynonymous SNV S793G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 111356 chr19 18170874 18170874 C A rs145590794 IL12RB1 Nonsynonymous SNV V605L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.96 111357 chr9 125273139 125273139 G A rs767716131 OR1J2 Nonsynonymous SNV R20Q 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.171 111358 chr9 125273709 125273709 C T OR1J2 Nonsynonymous SNV P210L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 24 111359 chr18 42532359 42532359 G A SETBP1 Synonymous SNV K1018K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.378 111360 chr1 12091810 12091810 C T rs147348221 MIIP Nonsynonymous SNV P371L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 111361 chr19 18778550 18778550 C T rs199571792 KLHL26 Nonsynonymous SNV R144W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 111362 chr6 159654030 159654030 G A rs73023729 FNDC1 Nonsynonymous SNV G829E 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 20.6 111363 chr19 19337625 19337625 C G rs757000546 NCAN Nonsynonymous SNV T468R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.149 111364 chr19 19369374 19369374 C G rs751565044 HAPLN4 Nonsynonymous SNV E259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 111365 chr19 6926396 6926396 C T rs117242880 ADGRE1 Nonsynonymous SNV A528V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 34 111366 chr1 1267411 1267411 A G TAS1R3 Nonsynonymous SNV Y167C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 111367 chr18 48591923 48591923 T C rs1801250 SMAD4 Synonymous SNV F362F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign/Likely benign 2.555 111368 chr1 1361735 1361735 C T rs764212213 TMEM88B Synonymous SNV V76V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 111369 chr18 50985657 50985657 C A rs199876013 DCC Nonsynonymous SNV P1150T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 111370 chr19 58850490 58850490 G A rs757799019 ZSCAN22 Nonsynonymous SNV R425Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.17 111371 chr18 5397377 5397377 C T rs151294672 EPB41L3 Nonsynonymous SNV V619M 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 9.326 111372 chr18 55335541 55335541 C T LOC100505549 0.002 0 0 0 2 0 0 0 0 0 0 0 5.505 111373 chr19 45323983 45323983 G A rs148614566 BCAM Synonymous SNV L595L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 111374 chr6 1611964 1611964 G A FOXC1 Synonymous SNV L428L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.439 111375 chr1 197316487 197316487 C T rs62636263 CRB1 Nonsynonymous SNV T289M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 16.19 111376 chr6 161582593 161582593 G A rs4709497 AGPAT4-IT1 0 0 0.031 0 0 0 0 9 0 0 0 0 2.967 111377 chr1 150208111 150208111 G A rs77006810 ANP32E Synonymous SNV N8N 0.008 0 0.014 0 9 0 0 4 0 0 0 0 9.415 111378 chr19 45448130 45448130 C T rs12691090 APOC4 Synonymous SNV D67D 0 0.005 0 0 0 2 0 0 0 0 0 0 9.936 111379 chr19 871132 871132 G A rs748405693 MED16 Synonymous SNV S740S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.4 111380 chr19 45493804 45493804 C T rs875254 CLPTM1 Synonymous SNV L414L 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 14.66 111381 chr19 45655486 45655486 G C rs4803799 NKPD1 Nonsynonymous SNV Q737E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.084 111382 chr6 167411334 167411334 C T rs75823810 MIR3939 0 0 0.051 0 0 0 0 15 0 0 0 0 5.295 111383 chr6 167411337 167411337 G A rs73024232 MIR3939 0 0 0.044 0 0 0 0 13 0 0 0 0 0.387 111384 chr6 167411362 167411362 G A rs77072520 MIR3939 0 0 0.044 0 0 0 0 13 0 0 0 0 7.312 111385 chr19 2832328 2832328 T C rs1027009457 ZNF554 Nonsynonymous SNV V94A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 111386 chr18 60383787 60383787 T G rs187210763 PHLPP1 Nonsynonymous SNV F291V 0.009 0.005 0.02 4 11 2 0.01 6 0 0 0 0 Benign 3.685 111387 chr1 151811409 151811409 A G rs756812351 C2CD4D Synonymous SNV R19R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.456 111388 chr1 201858713 201858713 G A rs140517698 SHISA4 Nonsynonymous SNV E72K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 111389 chr1 152325959 152325959 C T rs148908983 FLG2 Nonsynonymous SNV G1435R 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 3.453 111390 chr19 33289229 33289229 C T rs1019039323 TDRD12 Nonsynonymous SNV T549M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 111391 chr18 64172374 64172374 A T rs142233132 CDH19 Nonsynonymous SNV M665K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.412 111392 chr6 26368939 26368939 G A rs145878031 BTN3A2 Nonsynonymous SNV V78M 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.62 111393 chr6 26422336 26422336 T C rs55994013 BTN2A3P 0 0 0.122 0 0 0 0 36 0 0 0 0 2.523 111394 chr6 26422387 26422387 - CTTCCTCCTCCT BTN2A3P 0 0 0.105 0 0 0 0 31 0 0 0 0 111395 chr1 204380232 204380232 T C rs137955986 PPP1R15B Nonsynonymous SNV Y103C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 7.939 111396 chr1 154317235 154317235 G A rs146738009 ATP8B2 Nonsynonymous SNV A773T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 111397 chr1 204429756 204429756 T C rs61740681 PIK3C2B Synonymous SNV Q448Q 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 0.586 111398 chr1 154401796 154401796 C T rs2229237 IL6R Synonymous SNV H70H 0.023 0.026 0.01 6 27 10 0.015 3 0 0 0 0 3.731 111399 chr19 9059827 9059827 A G rs76869876 MUC16 Nonsynonymous SNV S9207P 0.009 0.021 0.01 7 11 8 0.018 3 1 0 0 0 2.017 111400 chr9 135537994 135537994 T C rs548331353 DDX31 Nonsynonymous SNV K160R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.26 111401 chr19 36297671 36297671 G A rs148996461 PRODH2 Nonsynonymous SNV A323V 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 29.6 111402 chr1 20827606 20827606 C T rs115435412 MUL1 Synonymous SNV P212P 0.014 0 0 3 16 0 0.008 0 0 0 0 0 Benign 13.7 111403 chr6 35212572 35212572 T C rs147085138 SCUBE3 Synonymous SNV S794S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.017 111404 chr18 77805896 77805896 G T rs146546640 RBFA Nonsynonymous SNV G230C 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 23.4 111405 chr19 36339016 36339016 C T rs146290709 NPHS1 Nonsynonymous SNV R456Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 111406 chr1 209778971 209778971 G A rs148374403 CAMK1G Synonymous SNV S129S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.52 111407 chr9 138236110 138236110 T C rs895546075 C9orf62 Nonsynonymous SNV S106P 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 10.62 111408 chr19 9728784 9728784 G A rs747340823 ZNF561 Synonymous SNV L33L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.464 111409 chr6 38704869 38704869 G A rs61757620 DNAH8 Synonymous SNV A46A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.06 111410 chr19 36940301 36940301 C G rs777231866 ZNF566 Nonsynonymous SNV G175R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 111411 chr1 117122285 117122285 G C rs114915440 IGSF3 Nonsynonymous SNV D1021E 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 3.727 111412 chr1 100740475 100740475 C T rs202192086 RTCA Nonsynonymous SNV T190I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 111413 chr1 158517417 158517417 G A rs148583112 OR6Y1 Nonsynonymous SNV T160I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 111414 chr6 39282816 39282816 G A rs138573996 KCNK16 Stop gain Q251X 0.004 0.005 0.01 4 5 2 0.01 3 0 0 0 0 9.501 111415 chr1 11827071 11827071 C T rs189594838 C1orf167 Nonsynonymous SNV R410W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 111416 chr6 41738885 41738885 G A rs554107358 FRS3 Synonymous SNV A317A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 8.713 111417 chr1 1007885 1007885 A G rs898324121 RNF223 Nonsynonymous SNV I21T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.429 111418 chr6 42609352 42609352 C A rs148521882 UBR2 Nonsynonymous SNV H651Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.57 111419 chr1 10405924 10405924 C T KIF1B Nonsynonymous SNV T1191M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.6 111420 chr1 120478125 120478125 A C rs147223770 NOTCH2 Nonsynonymous SNV F1209V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 29 111421 chr9 140082480 140082480 G A rs147923598 ANAPC2 Nonsynonymous SNV H65Y 0 0 0 3 0 0 0.008 0 0 0 0 0 0.133 111422 chr9 140127782 140127782 A G rs766506036 SLC34A3 Nonsynonymous SNV S228G 0 0 0 3 0 0 0.008 0 0 0 0 0 0.032 111423 chr19 11227665 11227665 C T rs143872778 LDLR Synonymous SNV A444A 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.02 111424 chr1 159899487 159899487 G A IGSF9 Nonsynonymous SNV A756V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 111425 chr9 140173276 140173276 G C TOR4A Synonymous SNV L45L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.443 111426 chr19 11453547 11453547 C T rs147265345 TMEM205 Nonsynonymous SNV V172I 0.003 0.008 0 0 3 3 0 0 0 0 0 0 6.562 111427 chr1 12835698 12835698 T A rs200081197 PRAMEF12 Synonymous SNV L100L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.5 111428 chr1 110466588 110466588 C T rs369579772 CSF1 Nonsynonymous SNV R449W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 34 111429 chr1 109714603 109714603 T C KIAA1324 Nonsynonymous SNV Y93H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.1 111430 chr19 38965975 38965975 A G rs137933390 RYR1 Nonsynonymous SNV K1393R 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 111431 chr19 38979906 38979906 C T rs143418190 RYR1 Synonymous SNV D1879D 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.96 111432 chr1 13910528 13910528 G A rs141040955 PDPN Synonymous SNV T76T 0.009 0.005 0 0 10 2 0 0 0 0 0 0 14.33 111433 chr1 160811257 160811257 C T rs755036224 CD244 Nonsynonymous SNV R138H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 111434 chr19 39070762 39070762 G A rs118126378 RYR1 Synonymous SNV G4830G 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.23 111435 chr19 39292737 39292737 G A rs751138408 LGALS4 Synonymous SNV R240R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.783 111436 chr10 3141512 3141512 G A rs377475646 PFKP Nonsynonymous SNV D51N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.028 111437 chr19 12865742 12865744 ACA - BEST2 N179del 0.002 0 0 0 2 0 0 0 0 0 0 0 111438 chr1 163044306 163044306 A G rs137999044 RGS4 Nonsynonymous SNV K174E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.2 111439 chr1 16343700 16343700 G A HSPB7 Nonsynonymous SNV R72C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 111440 chr1 111730920 111730920 G A rs761055470 DENND2D Nonsynonymous SNV A388V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 111441 chr1 114945394 114945394 G A rs2179657 TRIM33 Synonymous SNV P960P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 16.03 111442 chr19 407821 407821 C G rs886313407 C2CD4C Nonsynonymous SNV A181P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.026 111443 chr6 5086454 5086454 C T rs186324404 PPP1R3G Synonymous SNV P245P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 111444 chr19 4110552 4110552 C G rs10424722 MAP2K2 Synonymous SNV G135G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 12.83 111445 chr6 51923245 51923245 G - rs772688219 PKHD1 P463Qfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 111446 chr19 4174859 4174859 C T rs74317014 SIRT6 Nonsynonymous SNV A176T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.66 111447 chr1 16778370 16778370 G A rs140549179 NECAP2 Nonsynonymous SNV R176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 111448 chr10 12149981 12149981 C A rs35046964 DHTKD1 Nonsynonymous SNV D707E 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 0.123 111449 chr19 53618569 53618569 T G ZNF415 Nonsynonymous SNV L87F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.027 111450 chr1 153517200 153517200 C A S100A4 Nonsynonymous SNV G24V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 111451 chr1 233136261 233136261 G A rs141432578 PCNX2 Synonymous SNV D1706D 0.007 0.013 0.003 0 8 5 0 1 0 0 0 0 10.51 111452 chr19 44223086 44223086 C G rs139419159 IRGC Nonsynonymous SNV L126V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 111453 chr1 1229953 1229953 C T rs574689077 ACAP3 Synonymous SNV E656E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.359 111454 chr1 1268462 1268462 G A rs138915131 TAS1R3 Synonymous SNV R479R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 2.148 111455 chr6 8016007 8016007 T C rs34176903 BLOC1S5 Nonsynonymous SNV N147D 0 0 0.01 0 0 0 0 3 0 0 0 0 0.05 111456 chr19 17323101 17323101 G A rs369135686 MYO9B Synonymous SNV S2152S 0.003 0.013 0 2 3 5 0.005 0 0 0 0 0 13.71 111457 chr6 83880124 83880124 G A rs775608964 PGM3 Nonsynonymous SNV A399V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 111458 chr19 55046876 55046876 C T rs150567611 KIR3DX1 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 13.86 111459 chr19 17373671 17373671 G A USHBP1 Nonsynonymous SNV P47L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.49 111460 chr6 86387308 86387308 T C rs201075165 SNORD50B 0 0 0.01 0 0 0 0 3 0 0 0 0 14.38 111461 chr19 55179244 55179244 G - rs571881532 LILRB4 A431Lfs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 111462 chr19 55179246 55179246 T A rs139028841 LILRB4 0 0.003 0 0 0 1 0 0 0 0 0 0 6.725 111463 chr19 44585249 44585249 T C rs200252807 ZNF284 Nonsynonymous SNV Y33H 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 23.1 111464 chr19 17436152 17436152 - GCT rs778629282 ANO8 Q901_R902insQ 0.003 0 0 1 3 0 0.003 0 0 0 0 0 111465 chr19 17598122 17598122 G A rs146832984 SLC27A1 Synonymous SNV Q234Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 3.217 111466 chr1 146672962 146672962 T C rs142335408 FMO5 Nonsynonymous SNV R319G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15 111467 chr10 26986771 26986771 T A PDSS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 111468 chr1 1471126 1471126 G A rs114114317 TMEM240 Synonymous SNV D72D 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 Benign 0.442 111469 chr1 2418694 2418694 G A rs371798111 PLCH2 Synonymous SNV P304P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.356 111470 chr1 150830926 150830926 T C rs141736918 ARNT Synonymous SNV S12S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.036 111471 chr10 30315222 30315222 G A rs117029734 JCAD Synonymous SNV A1285A 0.003 0.008 0.007 4 4 3 0.01 2 0 0 0 0 Benign 8.956 111472 chr1 151139615 151139615 G A rs145306971 SCNM1, TNFAIP8L2-SCNM1 Nonsynonymous SNV G42D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 111473 chr1 151491647 151491647 C T rs750285792 CGN Nonsynonymous SNV R218C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 33 111474 chr19 18368552 18368552 C T rs147110090 IQCN Nonsynonymous SNV R1181Q 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 1 5.419 111475 chr19 18368910 18368910 C T rs145333989 IQCN Nonsynonymous SNV A1062T 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.18 111476 chr1 152058723 152058723 C T TCHHL1 Nonsynonymous SNV A479T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.308 111477 chr19 18705177 18705177 C T rs201943206 CRLF1 Synonymous SNV R364R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.66 111478 chr1 152659393 152659393 C T rs56398874 LCE2B Nonsynonymous SNV P25L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.67 111479 chr19 46137666 46137666 C T EML2 Synonymous SNV V59V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 111480 chr19 20135109 20135109 C T rs61746244 ZNF682 Nonsynonymous SNV S27N 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.001 111481 chr1 247654714 247654714 C T rs201479742 OR2W5 Synonymous SNV H95H 0.003 0 0 0 3 0 0 0 0 0 0 0 4.019 111482 chr19 21132072 21132072 T C rs61738573 ZNF85 Nonsynonymous SNV I187T 0.021 0.018 0 3 25 7 0.008 0 0 0 0 0 22.4 111483 chr1 151318757 151318757 C T rs143245407 RFX5 Nonsynonymous SNV G14R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.9 111484 chr19 21990451 21990451 T G rs150700173 ZNF43 Synonymous SNV T731T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.357 111485 chr1 152081701 152081701 C T rs147036704 TCHH Nonsynonymous SNV R1331H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.52 111486 chr19 2852735 2852735 T G rs61748311 ZNF555 Synonymous SNV A223A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.24 111487 chr10 50732384 50732384 C T ERCC6 Synonymous SNV E364E 0 0 0 3 0 0 0.008 0 0 0 0 0 14.61 111488 chr1 19615041 19615041 C T rs145878095 AKR7A3 Nonsynonymous SNV E55K 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 28.1 111489 chr19 49132456 49132456 C T rs147050661 SPHK2 Nonsynonymous SNV P428L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 111490 chr1 197009789 197009789 G A rs375961962 F13B Synonymous SNV H605H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 4.894 111491 chr1 156563280 156563280 G A rs148479602 NAXE Synonymous SNV P199P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 13.58 111492 chr10 63212704 63212704 G A TMEM26 Nonsynonymous SNV L46F 0 0 0 3 0 0 0.008 0 0 0 0 0 32 111493 chr1 248308989 248308989 C A rs144739404 OR2M5 Nonsynonymous SNV D180E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.404 111494 chr1 155033278 155033278 G T rs143147672 ADAM15 Synonymous SNV P759P 0.011 0.003 0 2 13 1 0.005 0 0 0 0 0 12.03 111495 chr10 69905257 69905257 C T rs144764983 MYPN Synonymous SNV G368G 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 18.42 111496 chr7 100731341 100731341 C T rs201122802 TRIM56 Nonsynonymous SNV R250W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 111497 chr1 248685155 248685155 G C rs142379395 OR2G6 Nonsynonymous SNV D70H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 111498 chr10 70156556 70156556 T C rs201556684 RUFY2 Nonsynonymous SNV I69V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 23 111499 chr7 101821758 101821758 A T CUX1 Nonsynonymous SNV I275L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 111500 chr1 155168233 155168233 G A rs200030789 THBS3 Synonymous SNV L561L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 7.207 111501 chr19 5790116 5790116 C A DUS3L Nonsynonymous SNV R110L 0 0.005 0 0 0 2 0 0 0 0 0 0 34 111502 chr7 102046275 102046275 A G MIR548O 0 0 0.003 0 0 0 0 1 0 0 0 0 4.597 111503 chr7 102111925 102111925 C T rs374409015 MIR4467 0 0 0.017 0 0 0 0 5 0 0 0 0 4.477 111504 chr1 249119030 249119030 C T rs145512568 SH3BP5L Synonymous SNV E35E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 111505 chr19 49477470 49477470 C A GYS1 Nonsynonymous SNV A453S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 111506 chr19 49611371 49611371 G T rs774342922 SNRNP70 Nonsynonymous SNV D320Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 111507 chr1 1562037 1562037 C T MIB2 Nonsynonymous SNV S377F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 111508 chr19 58757681 58757681 C T rs112829677 ZNF544 Synonymous SNV F16F 0.005 0.003 0 2 6 1 0.005 0 1 0 0 0 13.99 111509 chr7 107312649 107312649 T A rs886061883 SLC26A4 Nonsynonymous SNV I124N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 111510 chr1 158724852 158724852 C G rs139704505 OR6K6 Nonsynonymous SNV L83V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 111511 chr7 107706895 107706895 T C rs2240445 LAMB4 Nonsynonymous SNV N866S 0.008 0.003 0.034 2 9 1 0.005 10 0 0 1 0 25.7 111512 chr7 107849935 107849935 A G rs147330397 NRCAM Synonymous SNV S310S 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 8.734 111513 chr7 108119731 108119731 G A rs34848302 PNPLA8 Synonymous SNV S657S 0.009 0.013 0.024 10 11 5 0.026 7 0 0 0 0 Benign 11.08 111514 chr1 171510573 171510573 C G PRRC2C Nonsynonymous SNV P1321R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.242 111515 chr1 29185766 29185766 C T OPRD1 Synonymous SNV A176A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 111516 chr19 6468591 6468591 C T rs150554676 DENND1C Synonymous SNV A483A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 3.778 111517 chr1 15701116 15701116 C T rs10927776 FHAD1 Nonsynonymous SNV A1167V 0.005 0.008 0.007 7 6 3 0.018 2 0 0 0 0 16.55 111518 chr7 123267235 123267235 G A rs376083910 ASB15 Nonsynonymous SNV D257N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 34 111519 chr10 75051169 75051169 C T rs140360144 CFAP70 Nonsynonymous SNV R563Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 111520 chr10 75138691 75138691 C T rs3750575 ANXA7 Nonsynonymous SNV R379Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 111521 chr10 75557036 75557036 T C ZSWIM8-AS1 0.003 0.01 0 5 3 4 0.013 0 0 0 0 0 6.804 111522 chr7 128415666 128415666 A G OPN1SW Nonsynonymous SNV L60P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 111523 chr7 128489626 128489626 C T rs752034193 FLNC Synonymous SNV H1731H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 111524 chr1 17944934 17944934 C T rs139656107 ARHGEF10L Nonsynonymous SNV A29V 0.003 0.005 0.003 7 4 2 0.018 1 0 0 0 0 16.18 111525 chr7 129410227 129410227 C T rs76481776 MIR182 0 0 0.092 0 0 0 0 27 0 0 2 0 7.633 111526 chr1 3638593 3638593 G A rs61747511 TP73 Synonymous SNV P97P 0.014 0.016 0.024 3 17 6 0.008 7 0 0 0 0 1.329 111527 chr1 180061976 180061976 G C rs77843892 CEP350 Nonsynonymous SNV D2246H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.031 111528 chr19 8145938 8145938 A G FBN3 Nonsynonymous SNV F2468L 0 0.005 0 0 0 2 0 0 0 0 0 0 26.7 111529 chr19 8154984 8154984 G A rs56194853 FBN3 Synonymous SNV S2061S 0.006 0.01 0.014 1 7 4 0.003 4 0 0 0 0 0.095 111530 chr1 38006337 38006337 C T rs80144754 SNIP1 Nonsynonymous SNV R116Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 21.7 111531 chr1 182356325 182356325 C T rs756642285 GLUL Nonsynonymous SNV R90H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.5 111532 chr1 160099157 160099157 A C rs780545424 ATP1A2 Synonymous SNV A476A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.137 111533 chr19 38933000 38933000 C T rs201938317 RYR1 Synonymous SNV P59P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.31 111534 chr1 182873562 182873562 A G rs143434276 SHCBP1L Nonsynonymous SNV V447A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.14 111535 chr19 39359952 39359952 - GGCCTCGGAGCTGAGCCCCCGGGGAGCGCGGTCTGTTTCGGGCTGGTA rs757698095 RINL A524_R525insYQPETDRAPRGLSSEA 0.001 0 0 0 1 0 0 0 0 0 0 0 111536 chr19 39360729 39360729 C T rs551994146 RINL Nonsynonymous SNV G399E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 111537 chr19 39380499 39380499 A - SIRT2 F87Sfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 111538 chr19 39390819 39390819 C T rs140517797 NFKBIB Synonymous SNV L49L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 18.09 111539 chr19 39664231 39664231 G A rs200391013 PAK4 Nonsynonymous SNV V74M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 111540 chr1 169993703 169993703 A G rs771746582 KIFAP3 Synonymous SNV D248D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.61 111541 chr19 39694512 39694512 G T rs199698694 SYCN Nonsynonymous SNV A128E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 111542 chr1 183876208 183876208 G A rs200500728 RGL1 Nonsynonymous SNV R483Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24 111543 chr7 139086903 139086903 A G rs149194310 FMC1-LUC7L2, LUC7L2 Synonymous SNV S92S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.5 111544 chr1 161332307 161332307 G C rs201210474 SDHC Nonsynonymous SNV E110Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign/Likely benign 2.96 111545 chr1 215821933 215821933 A G rs143275144 USH2A Nonsynonymous SNV L4840P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 111546 chr19 40148584 40148584 T C rs10403702 LGALS16 Nonsynonymous SNV L26P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.286 111547 chr1 217955619 217955619 A G rs763425521 SPATA17 Nonsynonymous SNV E276G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 111548 chr7 141854539 141854539 A G rs79591013 MGAM2 Nonsynonymous SNV N606S 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 26.8 111549 chr1 22141170 22141170 C A LDLRAD2 Nonsynonymous SNV A122E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 111550 chr19 53453883 53453883 G A rs142612844 ZNF816 Nonsynonymous SNV S382L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.8 111551 chr10 98741773 98741773 T C LCOR Nonsynonymous SNV L519P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.3 111552 chr7 148768233 148768233 T C rs868421355 ZNF786 Nonsynonymous SNV K544R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 111553 chr1 45504675 45504675 G A rs199995150 ZSWIM5 Synonymous SNV I609I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 15.61 111554 chr1 167402279 167402279 C G rs148298128 CD247 Synonymous SNV G136G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.92 111555 chr10 99677404 99677404 G A rs148307013 CRTAC1 Nonsynonymous SNV R190C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 111556 chr19 54395829 54395829 C T rs752610054 PRKCG Synonymous SNV S251S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 111557 chr1 46743923 46743923 G A rs28910278 RAD54L Nonsynonymous SNV R558H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.38 111558 chr1 200558420 200558420 C T rs77213709 KIF14 Synonymous SNV K522K 0.012 0.005 0 2 14 2 0.005 0 0 0 0 0 Benign 17.99 111559 chr1 179883151 179883151 C T TOR1AIP1 Nonsynonymous SNV S310L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 111560 chr1 227170708 227170708 C T rs55958233 COQ8A Synonymous SNV G351G 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign/Likely benign 11.73 111561 chr1 171251160 171251160 C T rs765073901 FMO1 Nonsynonymous SNV R295C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 111562 chr1 50661279 50661279 G C ELAVL4 Nonsynonymous SNV E185D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 111563 chr7 158334147 158334147 C T rs757396197 PTPRN2 Nonsynonymous SNV R51Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.606 111564 chr1 54605319 54605319 G - rs549857682 CDCP2 Stop gain M409* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 111565 chr1 201858160 201858160 C G SHISA4 Nonsynonymous SNV T13S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.977 111566 chr7 19156659 19156659 - GCTGCT TWIST1 S95_G96insSS 0 0 0.003 0 0 0 0 1 0 0 0 0 111567 chr7 20738174 20738174 G A rs756265243 ABCB5 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 111568 chr1 55064970 55064970 C T rs148238018 ACOT11 Nonsynonymous SNV R256W 0.015 0.01 0 1 18 4 0.003 0 0 0 0 0 35 111569 chr1 109394593 109394593 A C rs111837270 AKNAD1 Nonsynonymous SNV S232A 0.015 0.013 0.01 6 18 5 0.015 3 0 0 0 0 0.001 111570 chr10 115439623 115439623 C T rs773602269 CASP7 Nonsynonymous SNV P37L 0 0 0 3 0 0 0.008 0 0 0 0 0 9.164 111571 chr1 109394609 109394609 T A rs111252541 AKNAD1 Nonsynonymous SNV K226N 0.015 0.013 0.01 6 18 5 0.015 3 0 0 0 0 0.027 111572 chr7 2294712 2294712 C T rs144465573 SNX8 Synonymous SNV E459E 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 11.45 111573 chr1 203054980 203054980 C T rs115855025 MYOG Nonsynonymous SNV R37Q 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 24.2 111574 chr1 55518418 55518418 C T rs28385710 PCSK9 Synonymous SNV R251R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.25 111575 chr1 17690206 17690206 C A rs147723249 PADI4 Nonsynonymous SNV R650S 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 32 111576 chr7 23387350 23387350 G A rs151010616 IGF2BP3 Synonymous SNV I229I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.95 111577 chr1 203192656 203192656 G A rs139891908 CHIT1 Synonymous SNV A130A 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Uncertain significance 11.64 111578 chr1 204085700 204085700 C T SOX13 Synonymous SNV L162L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.75 111579 chr1 19585276 19585276 G C rs143190389 MRTO4 Nonsynonymous SNV E224D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.4 111580 chr1 19615165 19615165 C T rs759126490 AKR7A3 Synonymous SNV V13V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.54 111581 chr1 60019881 60019881 G A rs116481036 FGGY Synonymous SNV T207T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.63 111582 chr1 231064747 231064747 C T TTC13 Nonsynonymous SNV A412T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 111583 chr7 26577940 26577940 A C rs73065609 LOC441204 0 0 0.01 0 0 0 0 3 0 0 0 0 1.887 111584 chr1 231299533 231299533 G A rs534389734 TRIM67 Nonsynonymous SNV G273D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.98 111585 chr1 232172585 232172585 C G TSNAX-DISC1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.304 111586 chr7 2752098 2752118 CACCAGTGTGTCGGAGCCCCT - rs755846027 AMZ1 S363_T369del 0 0 0.003 0 0 0 0 1 0 0 0 0 111587 chr1 180885841 180885841 C T rs199998538 KIAA1614 Nonsynonymous SNV P201L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.014 111588 chr1 11107063 11107063 G T MASP2 Nonsynonymous SNV A40D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.37 111589 chr7 29103724 29103724 C T rs778420273 CPVL Nonsynonymous SNV V186I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 111590 chr19 45899006 45899006 G T PPP1R13L Nonsynonymous SNV P348T 0.002 0 0 0 2 0 0 0 0 0 0 0 26 111591 chr10 124742253 124742253 C A rs747804677 PSTK Nonsynonymous SNV S74Y 0 0 0 3 0 0 0.008 0 0 0 0 0 22.6 111592 chr19 56599884 56599884 C T ZNF787 Synonymous SNV R219R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 111593 chr1 235922862 235922862 G A rs199857997 LYST Synonymous SNV A2097A 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.4 111594 chr1 207791434 207791434 A G rs41274770 CR1 Nonsynonymous SNV K1853R 0.019 0.023 0.014 7 22 9 0.018 4 0 0 0 0 11.9 111595 chr1 208390488 208390488 G A rs751044766 PLXNA2 Synonymous SNV P260P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.29 111596 chr1 70742506 70742506 T A rs17852616 ANKRD13C Nonsynonymous SNV T413S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.96 111597 chr1 236749128 236749128 A C rs41308194 HEATR1 Nonsynonymous SNV L681V 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 14.24 111598 chr7 38726070 38726070 G A rs77392862 FAM183BP 0 0 0.041 0 0 0 0 12 0 0 0 0 5.224 111599 chr7 38726347 38726347 G A rs62442615 FAM183BP 0 0 0.054 0 0 0 0 16 0 0 0 0 3.716 111600 chr1 18703371 18703371 C T rs766934886 IGSF21 Synonymous SNV D393D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 111601 chr7 4167274 4167274 G A rs651659 LOC105375131 0 0 0.116 0 0 0 0 34 0 0 2 0 4.904 111602 chr1 75188919 75188919 G A rs777169233 CRYZ Synonymous SNV P49P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.99 111603 chr1 24022381 24022381 C T rs777313952 RPL11 Nonsynonymous SNV R164C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 111604 chr1 78034149 78034149 A G rs150376743 ZZZ3 Synonymous SNV D284D 0.001 0 0 3 1 0 0.008 0 0 0 0 1 9.586 111605 chr1 19440511 19440511 C T rs77418490 UBR4 Synonymous SNV Q3752Q 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Benign 11.36 111606 chr7 44157262 44157262 C T rs568816628 POLD2 Nonsynonymous SNV R141H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 111607 chr7 44178535 44178535 G A rs141852636 MYL7 Synonymous SNV D171D 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 8.918 111608 chr19 48956219 48956219 C T rs775004198 GRWD1 Synonymous SNV C426C 0.003 0 0 0 3 0 0 0 0 0 0 0 13.43 111609 chr1 82456165 82456165 G T rs143448377 ADGRL2 Nonsynonymous SNV G1183V 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 22.7 111610 chr1 82456599 82456599 C G rs142267708 ADGRL2 Nonsynonymous SNV P1328A 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 5.846 111611 chr1 22154762 22154762 C T rs770563957 HSPG2 Nonsynonymous SNV R4133Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.2 111612 chr1 205388384 205388384 C G rs35101083 LEMD1 Nonsynonymous SNV G60A 0.018 0.013 0.007 4 21 5 0.01 2 0 0 0 0 6.983 111613 chr1 196697608 196697608 C G CFH Nonsynonymous SNV T790R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.08 111614 chr1 84403633 84403633 C G rs745821597 TTLL7 Nonsynonymous SNV E237Q 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 27.6 111615 chr7 45145670 45145670 G A rs7776981 SNORA5B 0 0 0.054 0 0 0 0 16 0 0 0 0 3.34 111616 chr7 46736672 46736672 G A rs139076724 LOC730338 0 0 0.017 0 0 0 0 5 0 0 0 0 5.063 111617 chr7 47409196 47409196 G A rs370405059 TNS3 Synonymous SNV V349V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.799 111618 chr1 223408382 223408382 G C SUSD4 Nonsynonymous SNV A262G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.569 111619 chr11 284477 284477 T C rs74044411 NLRP6 Nonsynonymous SNV V791A 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 7.122 111620 chr7 48080972 48080972 G A rs202135709 C7orf57 Nonsynonymous SNV V33M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.597 111621 chr1 224302003 224302003 C G rs752515336 FBXO28 Nonsynonymous SNV L58V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 111622 chr11 314323 314323 T C rs12432 IFITM1 Synonymous SNV C51C 0 0 0 3 0 0 0.008 0 0 0 0 0 0.081 111623 chr7 4827360 4827360 G A rs757042274 AP5Z1 Synonymous SNV A313A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.095 111624 chr11 375496 375496 C T rs150333376 B4GALNT4 Synonymous SNV V273V 0 0 0 3 0 0 0.008 0 0 0 0 0 14.78 111625 chr11 397117 397117 G C rs147617372 PKP3 Nonsynonymous SNV A206P 0 0 0 3 0 0 0.008 0 0 0 0 0 0.485 111626 chr11 399141 399141 C T rs371353602 PKP3 Synonymous SNV F406F 0 0 0 3 0 0 0.008 0 0 0 0 0 13.69 111627 chr7 51096954 51096954 C T COBL Synonymous SNV V613V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 8.396 111628 chr1 226827300 226827300 G A rs56308606 ITPKB Synonymous SNV T837T 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 15.58 111629 chr11 617571 617571 G A rs144034443 CDHR5 Nonsynonymous SNV A579V 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 23.5 111630 chr7 54827090 54827090 C T rs75821627 LOC100996654 0 0 0.031 0 0 0 0 9 0 0 0 0 5.458 111631 chr1 92944188 92944188 G A rs80337126 GFI1 Synonymous SNV F349F 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Benign/Likely benign 9.98 111632 chr11 639830 639830 T G rs1800443 DRD4 Nonsynonymous SNV V194G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 17.69 111633 chr1 206653842 206653842 C T rs140041163 IKBKE Nonsynonymous SNV L380F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.77 111634 chr1 93070934 93070934 C T rs142494678 EVI5 Nonsynonymous SNV R651K 0.003 0 0 0 3 0 0 0 0 0 0 0 24 111635 chr11 640305 640305 C G rs201878429 DRD4 Synonymous SNV V352V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.651 111636 chr11 800414 800414 G A rs115173419 PIDD1 Synonymous SNV V693V 0 0 0 3 0 0 0.008 0 0 0 0 0 12.69 111637 chr1 204170873 204170873 G T rs149024146 GOLT1A Synonymous SNV R62R 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign 12.93 111638 chr1 204226710 204226710 A G PLEKHA6 Nonsynonymous SNV V432A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.58 111639 chr1 94490533 94490533 C T rs138475920 ABCA4 Synonymous SNV T1537T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.53 111640 chr1 228467648 228467648 T - rs771817120 OBSCN L2508Rfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 111641 chr7 72857156 72857156 C T rs145782828 BAZ1B Synonymous SNV V1331V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.53 111642 chr19 51647712 51647712 C A rs949338926 SIGLEC7 Synonymous SNV G161G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.651 111643 chr1 221879561 221879561 G A rs115069867 DUSP10 Synonymous SNV N353N 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 10.77 111644 chr7 73922449 73922449 C T rs151198189 GTF2IRD1 Synonymous SNV N13N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Likely benign 16.93 111645 chr1 2289034 2289034 C T rs760431428 MORN1 Synonymous SNV G291G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.52 111646 chr1 206224616 206224616 T C rs782480657 AVPR1B Nonsynonymous SNV L59P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 111647 chr20 10393546 10393546 C T MKKS Nonsynonymous SNV G206D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.1 111648 chr7 75608835 75608835 T C rs782804219 POR Nonsynonymous SNV S102P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 111649 chr19 8536235 8536235 G A rs780563281 HNRNPM Synonymous SNV G187G 0.003 0 0 0 4 0 0 0 0 0 0 0 12.76 111650 chr1 154125245 154125245 G A rs372984030 NUP210L Nonsynonymous SNV R103C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 111651 chr7 77045562 77045562 G A rs1026748196 GSAP Nonsynonymous SNV S26L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 111652 chr1 15438830 15438843 TGTGTGTGTGTGTG - TMEM51-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 111653 chr1 208224712 208224712 G A rs140131144 PLXNA2 Nonsynonymous SNV P1017L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.81 111654 chr7 8099863 8099863 G T GLCCI1 Nonsynonymous SNV K317N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 111655 chr1 154918244 154918244 G A rs41264251 PBXIP1 Synonymous SNV L481L 0.009 0.008 0.014 3 11 3 0.008 4 0 0 0 0 3.114 111656 chr7 83689870 83689870 T C rs139295139 SEMA3A Nonsynonymous SNV N153S 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 4.406 111657 chr1 216262407 216262407 A G USH2A Synonymous SNV I1611I 0.004 0 0 0 5 0 0 0 0 0 0 0 9.232 111658 chr7 86781611 86781611 C T rs139013880 LOC101927420 0 0 0.003 0 0 0 0 1 0 0 0 0 9.247 111659 chr1 210411408 210411408 G A rs368662687 SERTAD4 Nonsynonymous SNV G35R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.484 111660 chr7 86800364 86800364 G C rs117360089 DMTF1 Nonsynonymous SNV A8P 0.016 0.016 0.02 6 19 6 0.015 6 0 0 0 0 23.4 111661 chr7 87138684 87138684 G A rs34748655 ABCB1 Synonymous SNV A1132A 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 Benign 13.14 111662 chr1 225594447 225594447 A C LBR Nonsynonymous SNV Y468D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 111663 chr1 21143942 21143942 G A rs138556551 EIF4G3 Synonymous SNV L1430L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 9.812 111664 chr1 226027575 226027575 C A rs56300109 EPHX1 Nonsynonymous SNV N256K 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.012 111665 chr7 88965553 88965553 C T rs141579525 ZNF804B Nonsynonymous SNV T1086I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 10.39 111666 chr1 237044082 237044082 G A rs141919148 MTR Synonymous SNV P823P 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.44 111667 chr1 237670112 237670112 C G rs754520058 RYR2 Nonsynonymous SNV P906A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.82 111668 chr1 24151850 24151850 C G rs377359610 HMGCL Nonsynonymous SNV R19P 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Uncertain significance 25.7 111669 chr1 32280369 32280369 G A rs35533335 SPOCD1 Nonsynonymous SNV P189L 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 2.191 111670 chr1 215844550 215844550 A G rs780290797 USH2A Synonymous SNV L4633L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.118 111671 chr1 215914751 215914751 G T rs41303285 USH2A Nonsynonymous SNV P3893T 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Benign 27.7 111672 chr7 98479294 98479294 A G rs782786929 MIR3609 0 0 0.007 0 0 0 0 2 0 0 0 0 2.066 111673 chr1 228476025 228476025 C A rs201858717 OBSCN Nonsynonymous SNV P3359T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 15.82 111674 chr1 33478877 33478877 C T rs12116440 AK2 Nonsynonymous SNV A167T 0.01 0 0.007 2 12 0 0.005 2 0 0 0 0 Benign/Likely benign 22.8 111675 chr11 1082315 1082315 C T rs58179195 MUC2 Synonymous SNV L590L 0 0 0 3 0 0 0.008 0 0 0 0 0 13.68 111676 chr1 245851867 245851867 A G KIF26B Nonsynonymous SNV H1861R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 111677 chr8 101719138 101719138 C T rs79940439 PABPC1 Nonsynonymous SNV R475Q 0.011 0.01 0.014 6 13 4 0.015 4 0 0 0 0 23.8 111678 chr1 3425691 3425691 G A rs753640601 MEGF6 Synonymous SNV A492A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.03 111679 chr1 228562308 228562308 C T OBSCN Synonymous SNV S7506S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.42 111680 chr1 247150631 247150631 T C rs77178548 ZNF695 Nonsynonymous SNV I396V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.49 111681 chr1 230903371 230903371 C T CAPN9 Synonymous SNV F144F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 111682 chr1 230930967 230930967 G T rs145939347 CAPN9 Nonsynonymous SNV E580D 0.017 0.016 0.01 8 20 6 0.021 3 0 0 0 0 2.282 111683 chr20 23064602 23064602 A G rs369692894 CD93 Synonymous SNV P648P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.11 111684 chr1 22172729 22172729 C T rs529205824 HSPG2 Nonsynonymous SNV R2780Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 25.5 111685 chr1 3742941 3742941 G C CEP104 Nonsynonymous SNV L750V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.694 111686 chr1 221879569 221879569 C T rs115082227 DUSP10 Nonsynonymous SNV V351I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.89 111687 chr1 38033290 38033290 G A rs771823024 GNL2 Nonsynonymous SNV A493V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.706 111688 chr11 1855816 1855816 T C rs373994380 SYT8 Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 111689 chr19 9271561 9271561 G A rs138057564 ZNF317 Nonsynonymous SNV V382I 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 23.1 111690 chr1 248004442 248004442 C T rs141952418 OR11L1 Nonsynonymous SNV G253R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 111691 chr11 2190982 2190982 A G rs7950050 TH Synonymous SNV A70A 0.003 0 0.014 4 3 0 0.01 4 0 0 0 0 Benign/Likely benign 2.661 111692 chr20 2636027 2636027 C T rs742843 NOP56 Nonsynonymous SNV T209I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.58 111693 chr1 223178669 223178669 C T rs372682248 DISP1 Synonymous SNV N1310N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 111694 chr1 223283837 223283837 T C rs5744177 TLR5 Nonsynonymous SNV D846G 0.01 0.005 0.02 2 12 2 0.005 6 0 0 0 0 Benign 10.92 111695 chr20 2638692 2638692 T C rs192854828 NOP56 Nonsynonymous SNV S513P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 16.11 111696 chr1 223284444 223284444 T A rs5744175 TLR5 Nonsynonymous SNV I644F 0.01 0.005 0.02 2 12 2 0.005 6 0 0 0 0 Benign 14.18 111697 chr1 223284915 223284915 G T rs5744171 TLR5 Nonsynonymous SNV L487I 0.01 0.005 0.02 3 12 2 0.008 6 0 0 0 0 Benign 16.01 111698 chr1 248039245 248039245 C T rs59513666 TRIM58 Synonymous SNV L305L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.487 111699 chr8 113308175 113308175 C T rs200618397 CSMD3 Nonsynonymous SNV G2634E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 111700 chr1 248059252 248059252 C T rs61750779 OR2W3 Nonsynonymous SNV R122W 0.003 0.005 0.007 0 4 2 0 2 0 0 1 0 25.2 111701 chr1 223900544 223900544 A G rs2230083 CAPN2 Nonsynonymous SNV S68G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 16.37 111702 chr1 248059483 248059483 G A rs61756679 OR2W3 Nonsynonymous SNV V199I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.679 111703 chr1 223947081 223947081 A G rs9804140 CAPN2 Nonsynonymous SNV K398R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 12.28 111704 chr20 3090849 3090849 C T rs368557466 UBOX5 Nonsynonymous SNV R456Q 0.009 0.008 0 0 11 3 0 0 0 0 0 0 34 111705 chr1 223976846 223976846 G A rs12044358 TP53BP2 Synonymous SNV N1009N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.46 111706 chr1 224489411 224489411 A G rs73130464 NVL Synonymous SNV P125P 0.007 0.005 0 1 8 2 0.003 0 1 0 0 0 6.43 111707 chr20 3128317 3128317 T A rs374979965 FASTKD5 Nonsynonymous SNV Q467L 0.009 0.008 0 0 11 3 0 0 0 0 0 0 9.172 111708 chr11 3059360 3059360 C T rs12796489 CARS1 Nonsynonymous SNV A158T 0 0 0 2 0 0 0.005 0 0 0 0 0 13.3 111709 chr1 160063722 160063722 C T rs370442247 IGSF8 Nonsynonymous SNV V228M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 111710 chr1 40771432 40771432 C T rs6676013 COL9A2 Synonymous SNV P354P 0.008 0.013 0.007 7 9 5 0.018 2 0 1 0 0 Benign/Likely benign 13.46 111711 chr1 248085149 248085149 C G rs112174271 OR2T8 Nonsynonymous SNV T277S 0.009 0.01 0.01 0 11 4 0 3 0 0 0 0 3.27 111712 chr1 40773150 40773150 G A rs12077871 COL9A2 Stop gain Q326X 0.007 0.01 0.007 6 8 4 0.015 2 0 1 0 0 Benign/Likely benign 36 111713 chr8 120758983 120758983 G C rs142735640 TAF2 Nonsynonymous SNV P1024A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 111714 chr1 238048736 238048736 C T rs773262337 ZP4 Nonsynonymous SNV S372N 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 6.501 111715 chr8 121275212 121275212 A G COL14A1 Nonsynonymous SNV Q992R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 111716 chr1 248185902 248185902 G A rs116811538 OR2L5 Nonsynonymous SNV G218D 0.003 0.003 0 0 4 1 0 0 1 0 0 0 22.8 111717 chr1 2255550 2255550 G A rs377011119 MORN1 Nonsynonymous SNV A428V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.81 111718 chr8 124117620 124117620 A G rs138654175 TBC1D31 Synonymous SNV V270V 0.005 0.01 0.007 3 6 4 0.008 2 0 0 0 0 3.203 111719 chr1 240656550 240656550 G C rs142343894 GREM2 Nonsynonymous SNV Q76E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 111720 chr11 4703769 4703769 A G rs747477679 OR51E2 Nonsynonymous SNV M58T 0 0 0 3 0 0 0.008 0 0 0 0 0 23.6 111721 chr1 2267935 2267935 G A rs144096006 MORN1 Nonsynonymous SNV T408M 0.002 0 0 0 2 0 0 0 0 0 0 0 17.83 111722 chr20 33331117 33331117 C A rs146570094 NCOA6 Nonsynonymous SNV R981S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 111723 chr1 226923406 226923406 G A rs192959669 ITPKB Nonsynonymous SNV T585M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.186 111724 chr20 35060420 35060420 G C rs149479346 DLGAP4 Synonymous SNV L100L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.194 111725 chr1 248685267 248685267 T A rs201195515 OR2G6 Stop gain L107X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 111726 chr20 35515926 35515926 T C TLDC2 Synonymous SNV S137S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.148 111727 chr1 43904404 43904404 A G rs112461557 SZT2 Synonymous SNV L2124L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 0.686 111728 chr11 4903643 4903643 G T rs777435186 OR51T1 Nonsynonymous SNV G172W 0 0 0 3 0 0 0.008 0 0 0 0 0 24 111729 chr11 4936284 4936284 C T rs143332268 OR51G2 Nonsynonymous SNV G204S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 31 111730 chr19 56204056 56204056 G A rs549777387 EPN1 Synonymous SNV G332G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.575 111731 chr1 228464633 228464633 C G rs201269256 OBSCN Nonsynonymous SNV L2164V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 21.2 111732 chr1 44683998 44683998 G C rs145830461 DMAP1 Nonsynonymous SNV V137L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 111733 chr8 133900274 133900274 C T rs116811188 TG Nonsynonymous SNV T741M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.028 111734 chr1 228474032 228474032 G A rs116080935 OBSCN Synonymous SNV S3086S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 2.336 111735 chr1 228480441 228480441 G A rs113015177 OBSCN Synonymous SNV S3607S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 9.52 111736 chr1 26694118 26694118 G T rs112648405 ZNF683 Nonsynonymous SNV D95E 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 11.66 111737 chr1 27092715 27092715 G T rs756667336 ARID1A Synonymous SNV P912P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.822 111738 chr1 27100181 27100181 - GCA rs570962335 ARID1A Q1334_R1335insQ 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 111739 chr1 1120377 1120377 T A rs116321663 TTLL10 Nonsynonymous SNV M357K 0.012 0.016 0.02 4 14 6 0.01 6 0 0 0 0 9.791 111740 chr1 228529158 228529158 C T rs774645351 OBSCN Synonymous SNV N5959N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 111741 chr1 228602816 228602816 T C rs74141230 TRIM17 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 1.155 111742 chr1 230898486 230898486 G A rs28359632 CAPN9 Nonsynonymous SNV D101N 0.004 0 0.007 0 5 0 0 2 0 0 0 0 25.1 111743 chr19 57840314 57840314 C T rs148383106 ZNF543 Nonsynonymous SNV T495M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 111744 chr1 32742054 32742054 C T LCK Nonsynonymous SNV R250W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 111745 chr1 50885075 50885075 A T rs201472794 DMRTA2 Synonymous SNV G297G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.07 111746 chr1 232561396 232561396 T C rs41271519 SIPA1L2 Synonymous SNV P1523P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 9.027 111747 chr8 144523141 144523141 G A rs199783940 ZC3H3 Synonymous SNV T819T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.398 111748 chr1 3322139 3322139 C T rs61745281 PRDM16 Synonymous SNV C371C 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 8.73 111749 chr1 248129304 248129304 T C rs143777155 OR2AK2 Nonsynonymous SNV L224P 0.007 0.005 0.007 4 8 2 0.01 2 1 0 0 0 23 111750 chr1 53569179 53569179 G C rs138304797 SLC1A7 Nonsynonymous SNV P107R 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 17.16 111751 chr1 34033257 34033257 G A rs756284477 CSMD2 Synonymous SNV I2772I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.25 111752 chr1 34128551 34128551 G A CSMD2 Synonymous SNV V1398V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.33 111753 chr1 117631548 117631548 G C rs769626268 TTF2 Nonsynonymous SNV W762C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 111754 chr1 23409737 23409737 T C KDM1A Synonymous SNV G819G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.526 111755 chr1 1177964 1177964 C T rs760113147 C1QTNF12 Synonymous SNV A291A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 111756 chr1 34663147 34663147 C T rs1382603 C1orf94 Synonymous SNV A214A 0.006 0.018 0.014 6 7 7 0.015 4 0 0 0 0 13.24 111757 chr19 58490521 58490521 C G rs137930511 ZNF606 Nonsynonymous SNV E419D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 111758 chr1 55067043 55067043 A T rs143572237 ACOT11 Nonsynonymous SNV D329V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.63 111759 chr8 144941768 144941768 G A rs371299411 EPPK1 Nonsynonymous SNV T1885M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.439 111760 chr19 58823618 58823618 C T ERVK3-1, ZNF8-ERVK3-1 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 111761 chr19 58862875 58862875 A G rs145717206 A1BG Synonymous SNV F264F 0.003 0 0 0 3 0 0 0 0 0 0 0 5.942 111762 chr1 36932463 36932463 A G rs148916169 CSF3R Nonsynonymous SNV M696T 0.013 0.01 0.017 4 15 4 0.01 5 0 0 0 0 0.001 111763 chr1 37267545 37267545 G A rs201433407 GRIK3 Synonymous SNV D889D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.72 111764 chr20 5107757 5107757 A C CDS2 Synonymous SNV R7R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.147 111765 chr1 249142344 249142344 G A rs201677826 ZNF672 Nonsynonymous SNV G291S 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 15.29 111766 chr1 25573416 25573416 C A rs34975798 RSRP1 Synonymous SNV P13P 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 19.38 111767 chr1 2575872 2575872 C T rs113268807 TTC34 Nonsynonymous SNV R848H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 111768 chr1 38455221 38455221 T A SF3A3 Nonsynonymous SNV D48V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25 111769 chr11 5906083 5906083 C A rs199681194 OR52E4 Synonymous SNV A187A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.21 111770 chr1 38455236 38455236 G C SF3A3 Nonsynonymous SNV T43S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.1 111771 chr1 237167657 237167657 A G rs200010888 MT1HL1 Nonsynonymous SNV S6P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 111772 chr1 23885773 23885773 A T rs146163818 ID3 Nonsynonymous SNV S49T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 111773 chr1 240286495 240286495 G A rs372095380 FMN2 Synonymous SNV E544E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.01 111774 chr1 26624479 26624479 C A rs61750046 UBXN11 Nonsynonymous SNV A59S 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 14.2 111775 chr1 6266651 6266651 G A rs771503338 RNF207 Nonsynonymous SNV S19N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.221 111776 chr1 40557809 40557809 G A PPT1 Synonymous SNV S90S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.095 111777 chr1 40766942 40766942 G A rs150687987 COL9A2 Nonsynonymous SNV P661L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 111778 chr8 145639773 145639773 G A rs200126079 SLC39A4 Nonsynonymous SNV A316V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 111779 chr1 144922252 144922252 C G rs147451175 PDE4DIP Nonsynonymous SNV G469R 0.007 0.003 0.014 1 8 1 0.003 4 0 0 0 0 28.1 111780 chr11 6638944 6638944 G A rs140726254 TPP1 Nonsynonymous SNV T98M 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.52 111781 chr11 6654108 6654108 G A rs139750490 DCHS1 Nonsynonymous SNV R879W 0 0 0 2 0 0 0.005 0 0 0 0 0 30 111782 chr20 60793657 60793657 C T rs201585083 HRH3 Nonsynonymous SNV G103S 0.004 0 0 3 5 0 0.008 0 0 0 0 0 32 111783 chr1 147090775 147090775 C T rs143556015 BCL9 Nonsynonymous SNV R272C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 111784 chr1 147090956 147090956 C T rs61751616 BCL9 Nonsynonymous SNV P332L 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 16.36 111785 chr19 7982457 7982457 G C rs936520061 TGFBR3L Nonsynonymous SNV V233L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 111786 chr1 246797823 246797823 A G rs147112975 CNST Nonsynonymous SNV N251S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 25 111787 chr8 17581294 17581294 G C rs75383511 MTUS1 Nonsynonymous SNV P779R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 111788 chr1 67293562 67293562 T C rs749176391 WDR78 Nonsynonymous SNV E682G 0.001 0 0 0 1 0 0 0 0 0 0 0 30 111789 chr1 43913327 43913327 G T rs766686663 SZT2 Nonsynonymous SNV G3076V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 23.4 111790 chr20 60920908 60920908 G A rs45527634 LAMA5 Synonymous SNV T481T 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 Benign 11.7 111791 chr1 151260148 151260148 G C rs149906483 ZNF687 Nonsynonymous SNV G461R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.6 111792 chr1 152083235 152083235 G A rs146186285 TCHH Nonsynonymous SNV R820W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 111793 chr8 2000428 2000428 G T rs35022521 MYOM2 Nonsynonymous SNV S87I 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 0.026 111794 chr1 152084419 152084420 AG - rs754646530 TCHH L425Efs*252 0.001 0 0 0 1 0 0 0 0 0 0 0 111795 chr1 152084420 152084420 - TCCTC TCHH Frameshift insertion L425Efs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 111796 chr1 152084423 152084423 G C rs750597187 TCHH Nonsynonymous SNV Q424E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 111797 chr1 76288193 76288193 A T rs202209828 MSH4 Nonsynonymous SNV E363D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 111798 chr1 152327069 152327069 C T rs149513642 FLG2 Nonsynonymous SNV G1065R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.83 111799 chr1 2576938 2576938 C T rs575007693 TTC34 Nonsynonymous SNV R764H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.89 111800 chr1 197071831 197071831 G A rs138727741 ASPM Nonsynonymous SNV R2184W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 12.7 111801 chr1 84417585 84417585 T C rs41293013 TTLL7 Nonsynonymous SNV K7E 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 20.3 111802 chr1 39895727 39895727 A T rs145430083 MACF1 Nonsynonymous SNV Q3644L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 111803 chr1 153784559 153784559 G A rs145131801 GATAD2B Nonsynonymous SNV A490V 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 Benign/Likely benign 23.3 111804 chr20 629430 629430 G A rs140766738 SRXN1 Synonymous SNV P114P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 111805 chr1 85550362 85550362 C T rs751993966 WDR63 Nonsynonymous SNV T175M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.24 111806 chr20 861876 861876 A C rs760785353 ANGPT4 Nonsynonymous SNV S297A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.546 111807 chr20 947828 947828 C T rs779231306 RSPO4 Nonsynonymous SNV R133Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 111808 chr1 54060613 54060613 T G rs61747131 GLIS1 Nonsynonymous SNV Q163P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.83 111809 chr1 54344046 54344046 C A rs377452587 YIPF1 Nonsynonymous SNV L102F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 111810 chr8 25222161 25222161 A T DOCK5 Nonsynonymous SNV N1022Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 111811 chr1 154960618 154960618 G A rs61741145 FLAD1 Nonsynonymous SNV R137Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 111812 chr8 27845082 27845082 G T SCARA5 Nonsynonymous SNV S17R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 111813 chr1 43637246 43637246 G C rs11559316 EBNA1BP2 Nonsynonymous SNV P76R 0.009 0.005 0.014 2 11 2 0.005 4 0 0 0 0 Benign 22.6 111814 chr1 43805145 43805145 A T MPL Nonsynonymous SNV R199W 0.003 0 0 0 3 0 0 0 0 0 0 0 0.552 111815 chr1 43913491 43913491 T G rs41270363 SZT2-AS1 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 0.068 111816 chr1 1564560 1564560 G C rs765388187 MIB2 Synonymous SNV A800A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.02 111817 chr11 18472528 18472528 G C rs2230150 LDHC Nonsynonymous SNV E285Q 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 111818 chr1 60499192 60499192 G T rs147997086 C1orf87 Synonymous SNV R329R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 13.24 111819 chr1 44121426 44121426 C T rs201297278 KDM4A Synonymous SNV A101A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.95 111820 chr19 9074448 9074448 C G MUC16 Nonsynonymous SNV S4333T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.254 111821 chr1 45243311 45243311 C T rs25687 RPS8 Synonymous SNV I79I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 15.95 111822 chr1 45253126 45253126 G C rs79680251 BEST4 Synonymous SNV T55T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 7.554 111823 chr19 9077705 9077705 A C rs376918040 MUC16 Synonymous SNV L3247L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.027 111824 chr1 909242 909242 A G rs3829739 PLEKHN1 Synonymous SNV G453G 0.012 0.008 0.003 0 14 3 0 1 0 0 0 0 0.551 111825 chr1 45294084 45294084 C T rs11573585 PTCH2 Synonymous SNV A531A 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 14.16 111826 chr1 45296646 45296646 G A rs11573576 PTCH2 Synonymous SNV A229A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 13.11 111827 chr1 45973124 45973124 G C rs6662272 MMACHC Nonsynonymous SNV D3H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 28.5 111828 chr1 46106052 46106052 G A rs36067922 GPBP1L1 Nonsynonymous SNV P192S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.57 111829 chr1 6341276 6341276 C T rs760299701 ACOT7 Synonymous SNV V300V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.33 111830 chr1 3764123 3764123 T G rs779086283 CEP104 Nonsynonymous SNV K114N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 111831 chr1 46972794 46972794 C G rs758428106 DMBX1 Nonsynonymous SNV R38G 0.005 0 0 0 6 0 0 0 0 0 0 0 23.4 111832 chr8 41790762 41790785 GGCTGCTGTGGAGGCGGTGGTGGC - rs779701073 KAT6A P1652_P1659del 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 111833 chr1 93625687 93625687 T G TMED5 Nonsynonymous SNV T96P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 111834 chr1 47882818 47882818 C T rs527783871 FOXE3 Synonymous SNV G277G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.43 111835 chr1 3390058 3390058 G A rs1042336374 ARHGEF16 Nonsynonymous SNV R426Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 111836 chr21 37833369 37833369 G C CLDN14 Nonsynonymous SNV P209A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.44 111837 chr1 21016694 21016694 C T rs144121316 KIF17 Synonymous SNV L456L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 111838 chr1 3425655 3425655 C T rs771007651 MEGF6 Synonymous SNV T504T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.47 111839 chr8 56365105 56365105 G A rs117684375 SBF1P1 0 0 0.037 0 0 0 0 11 0 0 0 0 1.948 111840 chr11 32608570 32608570 C T EIF3M Nonsynonymous SNV R19C 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 111841 chr1 35480371 35480371 T C ZMYM6 Nonsynonymous SNV Y241C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 111842 chr1 74929170 74929170 T C rs3737564 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV I686T 0.013 0.018 0.014 5 15 7 0.013 4 0 0 0 0 23.9 111843 chr8 6673413 6673413 A G rs546437126 XKR5 Synonymous SNV L279L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.116 111844 chr1 160136372 160136372 A G rs138469870 ATP1A4 Nonsynonymous SNV N368D 0.005 0 0 0 6 0 0 0 0 0 0 0 27.6 111845 chr8 73142574 73142574 G A rs181049248 LOC392232 0.003 0 0.01 0 3 0 0 3 0 0 0 0 12.25 111846 chr11 36614328 36614328 C T rs147748696 RAG2 Nonsynonymous SNV R464H 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.619 111847 chr20 1558985 1558985 G A rs200840558 SIRPB1 Synonymous SNV R144R 0.002 0 0 0 2 0 0 0 1 0 0 0 2.835 111848 chr20 1559024 1559025 CA - SIRPB1 V131Gfs*3 0.005 0 0 3 6 0 0.008 0 2 0 0 1 111849 chr20 1559029 1559029 C - rs866668053 SIRPB1 D130Tfs*27 0.005 0 0 3 6 0 0.008 0 2 0 0 1 111850 chr20 1559075 1559075 G A rs142943219 SIRPB1 Synonymous SNV D114D 0.002 0 0 0 2 0 0 0 1 0 0 0 10.32 111851 chr1 11254945 11254945 C A rs370389671 ANGPTL7 Nonsynonymous SNV N302K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 111852 chr8 8869199 8869199 T A rs9650616 ERI1 Synonymous SNV P67P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 111853 chr8 96085317 96085317 C T rs4641029 MIR3150BHG 0 0 0.119 0 0 0 0 35 0 0 17 0 8.447 111854 chr1 43664170 43664170 G C rs144486471 CFAP57 Nonsynonymous SNV K427N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 111855 chr9 100396172 100396172 G A rs11554641 NCBP1 Synonymous SNV R3R 0.008 0 0.007 1 9 0 0.003 2 0 0 0 0 13.83 111856 chr21 47414095 47414095 G A rs144887329 COL6A1 Synonymous SNV P450P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.717 111857 chr1 1179816 1179816 C T rs201061850 C1QTNF12 Nonsynonymous SNV R80Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.2 111858 chr1 915614 915614 T A rs186435690 PERM1 Nonsynonymous SNV T266S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.003 111859 chr1 6531575 6531575 G C rs139904931 PLEKHG5 Synonymous SNV P418P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 12.55 111860 chr1 46088449 46088449 G A rs138659279 CCDC17 Synonymous SNV N238N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.599 111861 chr21 47570433 47570433 G A rs149667449 FTCD Nonsynonymous SNV R215C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.8 111862 chr21 47662710 47662710 C T rs117921348 MCM3AP-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.401 111863 chr1 55279605 55279605 A T rs200750891 LEXM Nonsynonymous SNV E294V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 27.1 111864 chr1 47501570 47501570 C T rs201257388 CYP4X1 Synonymous SNV C194C 0.004 0 0 0 5 0 0 0 0 0 0 0 15.26 111865 chr1 173013106 173013106 C A TNFSF18 Nonsynonymous SNV A76S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 111866 chr1 173475997 173475997 G C rs146614979 SLC9C2 Nonsynonymous SNV Q1075E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 111867 chr20 2639438 2639438 - G IDH3B Frameshift insertion I373Hfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 111868 chr1 12409290 12409290 G A rs781452846 VPS13D Nonsynonymous SNV R3072Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 111869 chr1 1246228 1246228 G A rs565784306 PUSL1 Synonymous SNV R236R 0.004 0 0 0 5 0 0 0 1 0 0 0 5.965 111870 chr1 984660 984660 C T rs200232485 AGRN Nonsynonymous SNV P1448L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Uncertain significance 12.65 111871 chr20 30354428 30354428 G A TPX2 Nonsynonymous SNV C100Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 111872 chr9 111617174 111617174 G C rs114143830 ACTL7B Nonsynonymous SNV T346S 0.001 0.008 0.007 1 1 3 0.003 2 0 0 0 0 23.5 111873 chr1 77334363 77334363 A G rs143010807 ST6GALNAC5 Nonsynonymous SNV Q66R 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 8.166 111874 chr11 55406372 55406372 A C OR4P4 Nonsynonymous SNV Y180S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 111875 chr1 54301186 54301186 T C rs41313377 NDC1 Nonsynonymous SNV I55M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.7 111876 chr1 177245530 177245530 G A rs746335481 BRINP2 Synonymous SNV Q324Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.341 111877 chr22 19434940 19434966 GCTGGCCAGGTCGCGCTGCCACTGTTC - rs764084564 C22orf39 E80_S88del 0.002 0 0 0 2 0 0 0 0 0 0 0 111878 chr1 229730148 229730148 C A rs372457195 TAF5L Nonsynonymous SNV V556L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.67 111879 chr1 177929501 177929501 C G rs34246968 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R326T 0.014 0.008 0.01 6 17 3 0.015 3 0 0 0 0 29.1 111880 chr22 19951201 19951201 G A rs769223 COMT Synonymous SNV A84A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.842 111881 chr9 114371322 114371322 T C rs4978450 LRRC37A5P 0 0 0.088 0 0 0 0 26 0 0 2 0 2.274 111882 chr20 32255562 32255562 G A ACTL10 Nonsynonymous SNV V87M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 111883 chr20 33000354 33000354 T C rs3761146 ITCH Synonymous SNV R82R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.091 111884 chr1 86488251 86488251 C T rs201118131 COL24A1 Synonymous SNV E24E 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 14.18 111885 chr20 33451250 33451250 - TTTGCGCGTCTCGCGTA GGT7 Frameshift insertion D91Yfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 111886 chr1 179959675 179959675 C G CEP350 Nonsynonymous SNV P52A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 111887 chr9 116132320 116132320 G A rs183940573 BSPRY Synonymous SNV E374E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.619 111888 chr9 116356295 116356295 G C rs140819718 RGS3 Synonymous SNV R32R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 111889 chr22 22300380 22300380 C G rs139013152 PPM1F Nonsynonymous SNV S14T 0.011 0.01 0 3 13 4 0.008 0 0 0 0 0 0.884 111890 chr20 34843621 34843621 G A AAR2 Nonsynonymous SNV C370Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 111891 chr9 117004479 117004479 C A rs749853260 COL27A1 Nonsynonymous SNV P950T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 111892 chr9 117064375 117064375 G A rs951479014 COL27A1 Nonsynonymous SNV G1620D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.96 111893 chr22 22893190 22893190 T G PRAME Synonymous SNV R99R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 111894 chr20 3687150 3687150 C T rs376122199 SIGLEC1 Nonsynonymous SNV G85S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 111895 chr1 185976370 185976370 A G rs41317471 HMCN1 Nonsynonymous SNV N1529S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 19.04 111896 chr20 39981308 39981308 G T rs151288462 LPIN3 Nonsynonymous SNV D477Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 111897 chr20 42162962 42162962 G A L3MBTL1 Synonymous SNV E456E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.478 111898 chr1 24077554 24077554 T C rs35397069 ELOA Synonymous SNV D179D 0.006 0.013 0.01 2 7 5 0.005 3 0 0 0 0 0.073 111899 chr1 24078234 24078234 T C rs34394004 ELOA Nonsynonymous SNV L406S 0.006 0.013 0.007 2 7 5 0.005 2 0 0 0 0 0.001 111900 chr1 186276601 186276624 CCTGCACCCACCACTCCCAAGGAA - rs762498709 PRG4 P455_T462del 0.001 0 0 0 1 0 0 0 0 0 0 0 111901 chr1 92756989 92756989 C T rs144577963 GLMN Nonsynonymous SNV D91N 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 Benign 13.99 111902 chr1 24151858 24151858 C T rs115611440 HMGCL Synonymous SNV A16A 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 Benign/Likely benign 22.3 111903 chr1 92756998 92756998 A C rs902611330 GLMN Nonsynonymous SNV L88V 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 5.738 111904 chr1 24175151 24175151 G A rs114490852 FUCA1 Nonsynonymous SNV T383I 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 Benign/Likely benign 11.6 111905 chr1 70758091 70758091 T C rs749610388 ANKRD13C Nonsynonymous SNV I399V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.458 111906 chr1 19448473 19448473 C T rs202044053 UBR4 Nonsynonymous SNV A3284T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 111907 chr1 155269931 155269931 C T rs139707114 PKLR Nonsynonymous SNV E81K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.22 111908 chr1 85742157 85742157 G C rs1060843 LOC646626 0.009 0.003 0 5 11 1 0.013 0 3 0 0 2 6.317 111909 chr1 155340435 155340435 C T rs41264237 ASH1L Synonymous SNV R2187R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.87 111910 chr1 24387557 24387557 G A rs16829050 MYOM3 Synonymous SNV I1329I 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 16.4 111911 chr1 24397636 24397636 A G rs16829083 MYOM3 Nonsynonymous SNV F1041L 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 25.5 111912 chr1 24402675 24402675 T G rs36077733 MYOM3 Nonsynonymous SNV D892A 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 23.6 111913 chr22 30689667 30689667 G C rs150496732 TBC1D10A Nonsynonymous SNV I348M 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.31 111914 chr1 24447801 24447801 T C rs35401673 IL22RA1 Nonsynonymous SNV M407V 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 Benign 0.001 111915 chr9 129974914 129974914 G A rs147721404 RALGPS1 Synonymous SNV S412S 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 14.36 111916 chr1 197112705 197112705 G A ASPM Nonsynonymous SNV P226L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 111917 chr1 1562682 1562682 A G MIB2 Nonsynonymous SNV T511A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.271 111918 chr1 244615042 244615042 T C rs756015425 ADSS2 Synonymous SNV G26G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.22 111919 chr1 156347121 156347121 G A rs199927906 RHBG Nonsynonymous SNV V73M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 111920 chr1 198505830 198505830 C T rs3736930 ATP6V1G3 Nonsynonymous SNV R36Q 0.021 0.01 0.024 10 25 4 0.026 7 0 0 1 0 2.047 111921 chr20 45242184 45242184 T A rs201443231 SLC13A3 Nonsynonymous SNV I98F 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Uncertain significance 26.5 111922 chr1 156533433 156533433 G A rs75110454 IQGAP3 Synonymous SNV S177S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 111923 chr1 7980985 7980985 - A rs773568756 TNFRSF9 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 111924 chr22 31536224 31536224 G T PLA2G3 Synonymous SNV G39G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 5.243 111925 chr9 131233705 131233705 G A rs144949691 ODF2 Nonsynonymous SNV R99K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.4 111926 chr22 32439274 32439274 C T rs33973317 SLC5A1 Synonymous SNV D2D 0.004 0.016 0.003 4 5 6 0.01 1 0 0 0 0 Likely benign 11.5 111927 chr20 47841706 47841706 G A rs61748377 DDX27 Synonymous SNV Q221Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 6.116 111928 chr20 3451908 3451908 C T rs6051882 ATRN Synonymous SNV L52L 0.009 0.005 0 2 10 2 0.005 0 1 0 0 0 10.06 111929 chr20 3528101 3528101 A C rs6107308 ATRN Nonsynonymous SNV D187A 0.007 0.005 0.02 3 8 2 0.008 6 0 0 0 0 5.871 111930 chr20 35399304 35399304 C T rs374837222 DSN1 Synonymous SNV S93S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.88 111931 chr9 132903768 132903769 AA - rs781892981 GPRACR 0 0 0.031 0 0 0 0 9 0 0 0 0 111932 chr22 36900732 36900732 G A rs61730825 FOXRED2 Synonymous SNV S203S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 5.035 111933 chr20 3669236 3669236 T - rs375405123 SIGLEC1 R1676Sfs*32 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 111934 chr20 19941357 19941357 A G rs201529870 RIN2 Nonsynonymous SNV H122R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 0.125 111935 chr22 37622747 37622747 G A rs141308774 RAC2 Nonsynonymous SNV T182M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 22.6 111936 chr1 89271636 89271636 G A rs377246617 PKN2 Nonsynonymous SNV R532Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.9 111937 chr1 203669371 203669371 G A rs2228446 ATP2B4 Synonymous SNV G229G 0.02 0.008 0.031 2 24 3 0.005 9 0 0 0 0 10.69 111938 chr20 56284632 56284632 G T rs111569629 PMEPA1 Nonsynonymous SNV R3S 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 14.56 111939 chr22 38455249 38455249 C T rs529594848 PICK1 Nonsynonymous SNV P17L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.5 111940 chr11 61018729 61018729 G A rs150783741 PGA5 Synonymous SNV Q381Q 0.02 0.01 0.01 5 23 4 0.013 3 0 0 0 0 4.46 111941 chr9 136906986 136906986 T G rs36093130 BRD3 Nonsynonymous SNV K435Q 0.001 0 0.01 0 1 0 0 3 0 0 0 0 9.387 111942 chr1 9063435 9063435 T C rs776616572 SLC2A7 Nonsynonymous SNV K488R 0.001 0 0 0 1 0 0 0 0 0 0 0 13 111943 chr11 62373447 62373447 G A rs374485768 EML3 Synonymous SNV P555P 0 0 0 2 0 0 0.005 0 0 0 0 0 8.293 111944 chr9 137742124 137742124 G T rs62571442 MIR3689D2 0 0 0.014 0 0 0 0 4 0 0 0 0 2.323 111945 chr22 41721853 41721853 C T rs151077891 ZC3H7B Synonymous SNV D72D 0.014 0.016 0.027 6 17 6 0.015 8 0 0 0 0 13.18 111946 chr9 138391656 138391656 C T C9orf116 Synonymous SNV A14A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 111947 chr1 16255285 16255285 G A rs759593624 SPEN Synonymous SNV K850K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.39 111948 chr20 60551383 60551383 G A rs150380471 TAF4 Synonymous SNV G1033G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 3.217 111949 chr9 139243180 139243180 C T rs782123320 GPSM1 Synonymous SNV S413S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.37 111950 chr1 207300070 207300070 G A rs45574833 C4BPA Nonsynonymous SNV R240H 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 3.969 111951 chr20 60887554 60887554 G A rs202015718 LAMA5 Nonsynonymous SNV R3088C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 111952 chr1 208062055 208062055 C T rs146829371 CD34 Nonsynonymous SNV R315H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 111953 chr20 45910896 45910896 T C rs755016751 ZMYND8 Synonymous SNV L291L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.016 111954 chr22 43610111 43610111 C T rs753580958 SCUBE1 Nonsynonymous SNV V680M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 111955 chr1 16558648 16558648 C T rs780212789 CPLANE2 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 111956 chr9 139752123 139752123 T G rs140559332 MAMDC4 Nonsynonymous SNV V780G 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 26 111957 chr1 20982601 20982601 G A DDOST Synonymous SNV S132S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.05 111958 chr9 139846788 139846788 G T rs376257580 LCN12 Synonymous SNV L3L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.011 111959 chr9 139846791 139846791 G T rs370668052 LCN12 Synonymous SNV L4L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.055 111960 chr22 45130934 45130934 G A rs758299054 PRR5 Nonsynonymous SNV E100K 0.002 0 0 0 2 0 0 0 0 0 0 0 23 111961 chr20 34459679 34459679 A G rs200469725 PHF20 Nonsynonymous SNV M404V 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 0.044 111962 chr9 139946754 139946754 A G rs771471717 ENTPD2 Nonsynonymous SNV I55T 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 111963 chr1 980824 980824 G C rs112039851 AGRN Synonymous SNV G819G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 0.101 111964 chr1 981131 981131 A G rs9697293 AGRN Nonsynonymous SNV Q852R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 2.318 111965 chr22 45972941 45972941 G T rs143377110 FBLN1 Nonsynonymous SNV R642L 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 Likely benign 27.4 111966 chr9 140127809 140127809 G A rs145877051 SLC34A3 Nonsynonymous SNV D237N 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 25.7 111967 chr1 170983282 170983282 C G rs756492522 MROH9 Nonsynonymous SNV P541A 0.003 0 0 0 3 0 0 0 0 0 0 0 17.76 111968 chr1 215847813 215847813 C T rs111033378 USH2A Synonymous SNV R4480R 0.01 0.005 0.003 1 12 2 0.003 1 0 0 0 0 Benign/Likely benign 13.13 111969 chr20 3767104 3767104 C T rs140460051 CENPB Synonymous SNV T9T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 111970 chr9 14722203 14722203 T C rs373587912 CER1 Synonymous SNV E156E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.882 111971 chr20 13830839 13830839 - A SEL1L2 Stop gain N405* 0.007 0.005 0 6 8 2 0.015 0 0 0 0 0 111972 chr20 39798880 39798880 C T rs759966114 PLCG1 Nonsynonymous SNV R927C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 111973 chr11 65156877 65156877 T - rs751379042 FRMD8 L44Rfs*116 0 0 0 2 0 0 0.005 0 0 0 0 0 111974 chr20 62196190 62196190 G A rs148530703 HELZ2 Nonsynonymous SNV R760W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.63 111975 chr1 17322943 17322943 C T rs190746040 ATP13A2 Nonsynonymous SNV R410Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.4 111976 chr20 62226971 62226971 G A rs41310203 GMEB2 Nonsynonymous SNV A204V 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 14.06 111977 chr20 62309514 62309514 G A rs41302954 RTEL1 Synonymous SNV L89L 0.01 0.016 0.003 13 12 6 0.033 1 0 0 0 0 Benign 10.89 111978 chr9 21333143 21333143 A G rs371506199 KLHL9 Synonymous SNV D572D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.374 111979 chr9 21350603 21350603 T C rs76096785 IFNA6 Nonsynonymous SNV D95G 0.004 0 0.01 4 5 0 0.01 3 0 0 0 0 0.022 111980 chr1 35734679 35734679 G A ZMYM4 Nonsynonymous SNV R11Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.17 111981 chr20 44589101 44589101 C T rs773653123 ZNF335 Nonsynonymous SNV V616I 0.003 0 0 0 4 0 0 0 0 0 0 0 17.84 111982 chr20 825965 825965 C A rs190187707 FAM110A Nonsynonymous SNV A173D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.42 111983 chr9 35042268 35042268 A G rs71521249 C9orf131 Nonsynonymous SNV E6G 0.002 0 0.01 0 2 0 0 3 0 0 0 0 19.52 111984 chr9 35091978 35091978 C T PIGO Nonsynonymous SNV G636R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 111985 chr11 68455559 68455559 A G rs765429698 GAL Nonsynonymous SNV M72V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 111986 chr20 49247335 49247335 C T rs149834652 RIPOR3 Nonsynonymous SNV G21E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.1 111987 chr1 226421157 226421157 T G rs138510303 LIN9 Nonsynonymous SNV E345A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 29 111988 chr11 71819892 71819892 G A rs776760828 LRTOMT Nonsynonymous SNV R266H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 26 111989 chr21 32119332 32119361 GTATCCACAGCCATATCCACAGCCAGAGCC - rs780090534 KRTAP21-2 G54_Y63del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 111990 chr11 71903374 71903374 T C rs143413500 FOLR1 Synonymous SNV L53L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.007 111991 chr9 4662430 4662432 AGC - rs768964167 PLPP6 S23del 0 0 0.003 0 0 0 0 1 0 0 0 0 111992 chr21 33642056 33642056 G T MIS18A Nonsynonymous SNV L195I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 111993 chr21 33642114 33642114 A C MIS18A Nonsynonymous SNV S175R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 111994 chr1 183914681 183914681 T A rs61743924 COLGALT2 Nonsynonymous SNV Q385L 0.014 0.018 0.014 1 17 7 0.003 4 0 0 0 0 26.9 111995 chr1 184765050 184765050 G A rs146743466 NIBAN1 Synonymous SNV N616N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 2.752 111996 chr20 2945762 2945762 A G rs771931373 PTPRA Nonsynonymous SNV D110G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 111997 chr21 34923778 34923778 A T rs189178754 SON Synonymous SNV A747A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.008 111998 chr11 74952883 74952883 C T rs772565540 TPBGL Synonymous SNV R263R 0.002 0 0 5 2 0 0.013 0 0 0 0 0 12.31 111999 chr20 58475307 58475307 G A rs6027185 SYCP2 Synonymous SNV V430V 0.006 0.01 0.014 0 7 4 0 4 0 0 1 0 7.18 112000 chr20 58496438 58496438 A G rs61730337 SYCP2 Nonsynonymous SNV I32T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 0.087 112001 chr20 58576434 58576434 T G rs76758231 CDH26 Nonsynonymous SNV S45A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 112002 chr9 78773971 78773971 T C rs147263862 PCSK5 Synonymous SNV H501H 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 4.41 112003 chr2 112779114 112779114 A G rs147899488 MERTK Nonsynonymous SNV I769V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 16.37 112004 chr2 112940452 112940452 G A rs199894123 FBLN7 Nonsynonymous SNV R206H 0.004 0.008 0 0 5 3 0 0 0 0 0 0 22.7 112005 chr9 78965816 78965816 G A rs201136565 PCSK5 Nonsynonymous SNV C1653Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 112006 chr1 19433435 19433435 G A rs758171765 UBR4 Nonsynonymous SNV T4044M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 112007 chr1 230979586 230979586 G A rs780164639 C1orf198 Synonymous SNV T17T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.88 112008 chr20 60912761 60912761 G C rs75464861 LAMA5 Synonymous SNV G683G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.048 112009 chr1 232649877 232649877 G A rs143013457 SIPA1L2 Synonymous SNV N403N 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 3.135 112010 chr11 77590065 77590065 C T rs367591609 INTS4 Nonsynonymous SNV S941N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.6 112011 chr21 28338345 28338345 C A rs375872938 ADAMTS5 Synonymous SNV A122A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.27 112012 chr21 41142916 41142916 A G rs144481914 IGSF5 Synonymous SNV L164L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.02 112013 chr21 41151199 41151199 T C rs963359781 IGSF5 Nonsynonymous SNV C301R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.21 112014 chr1 233518291 233518291 C T rs34794284 MAP3K21 Nonsynonymous SNV P982L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.99 112015 chr20 35663657 35663657 T C rs139987219 RBL1 Nonsynonymous SNV I293V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.305 112016 chr9 90388373 90388373 G A CTSL3P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.263 112017 chr20 61948033 61948033 A G rs774340879 COL20A1 Nonsynonymous SNV R885G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 112018 chr9 91605981 91605981 C T rs145434754 C9orf47 Nonsynonymous SNV S24L 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 19.84 112019 chr9 95237024 95237024 - TCATCATCA rs764248772 ASPN D50_E51insDDD 0.021 0.008 0.01 6 25 3 0.015 3 0 0 0 0 112020 chr1 54479986 54479986 G A rs76122098 LDLRAD1 Nonsynonymous SNV S42F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 112021 chr9 95381994 95381994 G A rs41266681 LOC100128361 0 0 0.027 0 0 0 0 8 0 0 0 0 5.204 112022 chr9 95776238 95776238 G A rs41273400 FGD3 Synonymous SNV L380L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 13.09 112023 chr1 236148773 236148773 G A rs376032842 NID1 Synonymous SNV C987C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 112024 chr21 33757955 33757955 G A rs758115072 URB1 Stop gain R61X 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 35 112025 chr9 96021599 96021599 C T rs147646744 WNK2 Synonymous SNV D923D 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 2.473 112026 chr2 128184716 128184716 C T rs141249033 PROC Synonymous SNV C238C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 112027 chr20 3759905 3759905 G A rs186143954 SPEF1 Nonsynonymous SNV P106S 0.006 0 0 0 7 0 0 0 0 0 0 0 21.6 112028 chr9 97330091 97330091 G C rs4744354 PCAT7 0 0 0.003 0 0 0 0 1 0 0 0 0 0.874 112029 chr2 128412444 128412444 G A rs371757451 LIMS2 Synonymous SNV H66H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 112030 chr11 93430885 93430885 G A rs189027454 CEP295 Nonsynonymous SNV R936H 0.007 0 0 6 8 0 0.015 0 0 0 0 0 0.53 112031 chr9 99114385 99114385 C T rs370264773 SLC35D2 Synonymous SNV P118P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.05 112032 chr9 99404075 99404075 T G PRXL2C Nonsynonymous SNV N216T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 112033 chr20 39990060 39990060 G T rs139977572 EMILIN3 Nonsynonymous SNV P717T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.03 112034 chrM 2708 2708 G A RNR2 0 0 0.347 0 0 0 0 102 0 0 51 0 112035 chrUn_gl000219 56577 56577 C A LOC105379477, LOC283788 0 0 0.099 0 0 0 0 29 0 0 12 0 112036 chrUn_gl000219 56585 56585 A G LOC105379477, LOC283788 0 0 0.105 0 0 0 0 31 0 0 13 0 112037 chrUn_gl000219 56589 56589 A T LOC105379477, LOC283788 0 0 0.078 0 0 0 0 23 0 0 9 0 112038 chrX 101805097 101805097 C T rs35532477 NXF4 0 0 0.092 0 0 0 0 27 0 0 10 0 1.464 112039 chr2 133542303 133542303 T C rs200295297 NCKAP5 Nonsynonymous SNV N694S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 112040 chr21 46117296 46117296 C A rs782285134 KRTAP10-12 Nonsynonymous SNV S60R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 112041 chr1 203140576 203140576 C T rs764064538 MYBPH Nonsynonymous SNV R243H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.92 112042 chr1 240071648 240071648 C T rs147784522 CHRM3 Synonymous SNV S299S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.76 112043 chrX 11783613 11783613 G A rs140170166 MSL3 Synonymous SNV P163P 0 0 0.007 0 0 0 0 2 0 0 1 0 11.49 112044 chrX 118602246 118602246 T C rs62599440 SLC25A5-AS1 0 0 0.051 0 0 0 0 15 0 0 5 0 3.072 112045 chr1 203767308 203767308 A G ZBED6 Nonsynonymous SNV T220A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.784 112046 chrX 119509338 119509338 C A ATP1B4 Nonsynonymous SNV S225Y 0 0 0.007 0 0 0 0 2 0 0 1 0 26.6 112047 chr21 47549283 47549283 G A rs145838734 COL6A2 Nonsynonymous SNV E879K 0.003 0.008 0 0 4 3 0 0 0 0 0 0 18.82 112048 chr2 139308127 139308127 G A rs35257103 SPOPL Synonymous SNV V51V 0.019 0.013 0.007 2 22 5 0.005 2 0 0 0 0 11.95 112049 chr2 141055516 141055516 T G rs149487197 LRP1B Synonymous SNV A4276A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.969 112050 chr21 30444311 30444313 TGT - rs200313570 CCT8 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 112051 chr1 24460830 24460830 C T rs548546292 IL22RA1 Synonymous SNV S134S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 112052 chr11 107578592 107578592 A G rs758589460 SLN Nonsynonymous SNV M22T 0 0 0 4 0 0 0.01 0 0 0 0 0 11.51 112053 chr21 47863760 47863760 C T PCNT Synonymous SNV T3049T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.354 112054 chrX 144904201 144904201 C T SLITRK2 Synonymous SNV S86S 0 0 0.007 0 0 0 0 2 0 0 1 0 10.4 112055 chr21 32639197 32639197 C T rs141720377 TIAM1 Nonsynonymous SNV R31H 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 Benign 29.5 112056 chr1 246907410 246907410 A G rs141926725 SCCPDH Nonsynonymous SNV I183V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.002 112057 chr1 247027382 247027382 A G rs139868397 AHCTF1 Synonymous SNV P1128P 0.008 0.01 0.01 5 9 4 0.013 3 0 0 0 0 0.417 112058 chr11 110451011 110451011 G A rs146021011 ARHGAP20 Nonsynonymous SNV R864W 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 29.5 112059 chr22 19165294 19165294 C T SLC25A1 Synonymous SNV L136L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.654 112060 chr11 111899596 111899596 C T DLAT Nonsynonymous SNV T196I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 15.1 112061 chr1 207760772 207760772 A G rs61734514 CR1 Nonsynonymous SNV T1408A 0.014 0.01 0.01 6 17 4 0.015 3 1 0 0 0 5.476 112062 chr21 36088638 36088638 G A rs115008561 CLIC6 Nonsynonymous SNV R640K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 27.3 112063 chr21 36171638 36171638 G A rs59802347 RUNX1 Synonymous SNV G282G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 13.38 112064 chrX 153191615 153191615 C G ARHGAP4 Nonsynonymous SNV Q14H 0 0 0.014 0 0 0 0 4 0 0 2 0 25.8 112065 chr1 20974943 20974943 C G PINK1-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 8.451 112066 chrX 2779752 2779752 C T rs747007965 GYG2 Nonsynonymous SNV R188C 0 0 0.01 0 0 0 0 3 0 0 1 0 15.34 112067 chr1 21205933 21205933 T A rs146004558 EIF4G3 Synonymous SNV G779G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.53 112068 chr1 248084440 248084440 T G rs111379878 OR2T8 Nonsynonymous SNV S41A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 112069 chr2 165476249 165476249 G A GRB14 Nonsynonymous SNV T91I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 112070 chr11 118919008 118919008 G A rs140868450 HYOU1 Synonymous SNV S776S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.56 112071 chrX 47104180 47104180 C T rs551222235 USP11 Nonsynonymous SNV T648M 0 0 0.007 0 0 0 0 2 0 0 1 0 17.65 112072 chrX 47342912 47342912 - C rs200769667 LINC01560 0 0 0.126 0 0 0 0 37 0 0 14 0 112073 chr2 168102971 168102971 C T rs184983098 XIRP2 Nonsynonymous SNV T1468I 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 Benign 24.4 112074 chr22 25121468 25121468 C T PIWIL3 Nonsynonymous SNV C684Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 112075 chr22 26173586 26173586 A G rs766483254 MYO18B Nonsynonymous SNV I636V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 112076 chr21 43984852 43984852 G A rs369786221 SLC37A1 Synonymous SNV L390L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.06 112077 chr20 61444303 61444303 C A rs140665580 OGFR Nonsynonymous SNV P446T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.606 112078 chrX 74960807 74960807 C T rs751783492 TTC3P1 0 0 0.007 0 0 0 0 2 0 0 1 0 10.79 112079 chr20 61511212 61511212 G A rs148010857 DIDO1 Synonymous SNV H2032H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.947 112080 chr2 173352507 173352507 G T rs2737085 ITGA6 Nonsynonymous SNV D766Y 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 24.9 112081 chr22 29660098 29660098 C T rs755333823 RHBDD3 Synonymous SNV T86T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 112082 chr22 19121922 19121922 G A rs767141147 ESS2 Synonymous SNV A406A 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 10.85 112083 chrX 83128439 83128439 T C CYLC1 Synonymous SNV N241N 0 0 0.007 0 0 0 0 2 0 0 1 0 0.039 112084 chr22 19838873 19838873 C T rs78844806 RTL10 Synonymous SNV S304S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 12.4 112085 chr22 19838891 19838891 T A rs77448872 RTL10 Synonymous SNV T298T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 5.737 112086 chr2 176965069 176965069 C A HOXD12 Synonymous SNV G180G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.16 112087 chr2 176965261 176965271 GGGGCGGCCCC - HOXD12 A197Efs*38 0.003 0 0 0 3 0 0 0 0 0 0 0 112088 chr1 26487942 26487942 C A rs201813203 FAM110D Nonsynonymous SNV P54T 0.009 0.008 0.01 2 11 3 0.005 3 0 1 0 0 0.123 112089 chr22 19951237 19951237 C T rs8192488 COMT Synonymous SNV A96A 0.003 0.013 0.003 1 4 5 0.003 1 0 0 0 0 Benign 12.5 112090 chrY 6954357 6954357 C T rs370410726 TBL1Y Synonymous SNV C393C 0.002 0 0.02 0 2 0 0 6 1 0 3 0 10.22 112091 chr1 223940532 223940532 C T rs142874360 CAPN2 Nonsynonymous SNV R259C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 112092 chr22 21348954 21348954 G A rs139368531 LZTR1 Nonsynonymous SNV D575N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 17.62 112093 chr10 101560288 101560288 C T rs777902199 ABCC2 Nonsynonymous SNV R393W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 31 112094 chr22 31328599 31328599 T C MORC2 Nonsynonymous SNV I894V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.315 112095 chr21 47734651 47734651 C T rs777026400 C21orf58 Synonymous SNV P90P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.98 112096 chr1 226019500 226019500 T C rs2234698 EPHX1 Synonymous SNV D68D 0.016 0.005 0.01 1 19 2 0.003 3 1 0 0 0 3.828 112097 chr22 32112876 32112876 C T rs143362308 PRR14L Nonsynonymous SNV G317S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.111 112098 chr20 62839737 62839737 C T rs776847989 MYT1 Synonymous SNV C396C 0.002 0 0 0 2 0 0 0 0 0 0 0 6.258 112099 chr21 47850033 47850033 G A rs61735820 PCNT Synonymous SNV A2482A 0.014 0.005 0.007 3 17 2 0.008 2 0 0 0 1 Benign 11.37 112100 chr10 104181185 104181185 G A rs201788238 FBXL15 Nonsynonymous SNV R43Q 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 22.8 112101 chr11 126333071 126333071 C T rs369116661 KIRREL3 Synonymous SNV S241S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 11.62 112102 chr22 24227003 24227003 G A rs150812024 SLC2A11 Nonsynonymous SNV G493E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.905 112103 chr22 24237348 24237348 G T rs36065127 MIF-AS1 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.374 112104 chr22 24483459 24483459 G A rs147391076 CABIN1 Synonymous SNV K1056K 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 Benign 11.92 112105 chr1 94941269 94941269 C T rs759899265 ABCD3 Synonymous SNV V201V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.36 112106 chr22 37539638 37539638 G A rs148800183 IL2RB Synonymous SNV A42A 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Likely benign 13.95 112107 chr11 130278773 130278773 C T rs61754851 ADAMTS8 Nonsynonymous SNV G605R 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 34 112108 chr22 24953708 24953708 G A rs114095246 SNRPD3 Synonymous SNV T22T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.78 112109 chr1 33992812 33992812 C T rs111577457 CSMD2 Synonymous SNV P3262P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 112110 chr1 33998798 33998798 C T rs146169512 CSMD2 Synonymous SNV T3197T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 112111 chr10 115349456 115349456 T C rs774507330 NRAP Nonsynonymous SNV N1650S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.663 112112 chr1 35226963 35226963 C T rs142720849 GJB4 Synonymous SNV Y36Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 2.824 112113 chr1 22850933 22850933 C T rs776709448 ZBTB40 Nonsynonymous SNV A1062V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 112114 chr1 35854578 35854578 T C rs61751000 ZMYM4 Synonymous SNV Y453Y 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 0.129 112115 chr1 36026509 36026509 G A rs138767615 NCDN Nonsynonymous SNV V236M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.06 112116 chr10 115805036 115805036 A G rs150497212 ADRB1 Nonsynonymous SNV D382G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 26.6 112117 chr1 2305918 2305918 T C rs56199918 MORN1 Nonsynonymous SNV I206V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 12.4 112118 chr12 1005803 1005803 T C rs151331381 WNK1 Synonymous SNV L1802L 0.007 0 0 3 8 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.401 112119 chr1 38023338 38023338 A G rs144577882 DNALI1 Nonsynonymous SNV I72M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.84 112120 chr22 39911354 39911354 A C rs8137469 MIEF1 Synonymous SNV L471L 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 6.073 112121 chr22 39928738 39928738 G A rs12157325 RPS19BP1 Synonymous SNV S2S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.74 112122 chr10 11653426 11653426 G C rs187217745 LOC107984208 0 0 0.01 0 0 0 0 3 0 0 0 0 14.4 112123 chr21 35987299 35987299 G T rs529209258 RCAN1 Synonymous SNV G4G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.548 112124 chr20 16348362 16348362 G A rs200790988 KIF16B Nonsynonymous SNV T1203I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.9 112125 chr1 38435369 38435369 C A SF3A3 Nonsynonymous SNV K295N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 112126 chr22 31091154 31091154 G A rs41279969 OSBP2 Synonymous SNV T86T 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 12.17 112127 chr21 37605264 37605264 A G rs142303619 DOP1B Nonsynonymous SNV Y838C 0.01 0.023 0 4 12 9 0.01 0 0 0 0 0 14.11 112128 chr10 118620314 118620314 A C rs568750823 ENO4 Nonsynonymous SNV D215A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.861 112129 chr10 118927199 118927276 GGTCCCGGCGCCCGGCCTGTGTGGTGCTCAGATCAGACTTATCCACCCGAGCACCACGCAGACCAGCGCCTGGACCAA - MIR3663 0 0 0.048 0 0 0 0 14 0 0 0 0 112130 chr22 43195114 43195114 G C rs79850497 ARFGAP3 Nonsynonymous SNV F444L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 16.12 112131 chr21 38459590 38459592 GGC - rs565611168 TTC3 A12del 0.003 0 0 0 3 0 0 0 0 0 0 0 112132 chr10 120936540 120936540 G T PRDX3 Nonsynonymous SNV F54L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 112133 chr22 43618695 43618695 C A rs148458324 SCUBE1 Nonsynonymous SNV A461S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.029 112134 chr22 33673125 33673125 C T rs1046166 LARGE1 Nonsynonymous SNV R665H 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 Benign/Likely benign 34 112135 chr1 40557018 40557018 A G rs766961054 PPT1 Nonsynonymous SNV V139A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 112136 chr22 26159270 26159270 A G rs746711853 MYO18B Nonsynonymous SNV I38V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 112137 chr12 6566755 6566755 G A rs778616024 TAPBPL Nonsynonymous SNV R250Q 0 0 0 3 0 0 0.008 0 0 0 0 0 23.7 112138 chr22 36886112 36886112 G A rs34949308 FOXRED2 Synonymous SNV S576S 0.009 0.023 0.01 3 10 9 0.008 3 0 0 0 0 8.131 112139 chr22 44495951 44495951 C G rs62227666 PARVB Nonsynonymous SNV T37R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.9 112140 chr12 6701618 6701618 G A CHD4 Synonymous SNV F956F 0 0 0 3 0 0 0.008 0 0 0 0 0 11.58 112141 chr10 124909312 124909312 G C rs767294328 HMX2 Nonsynonymous SNV E165D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 112142 chr22 45607855 45607855 G A rs56194783 KIAA0930 Synonymous SNV S66S 0.01 0.018 0.003 2 12 7 0.005 1 0 0 0 0 10.09 112143 chr22 45689174 45689174 C A rs753266315 UPK3A Synonymous SNV G107G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 112144 chr1 43772625 43772625 C G rs751594832 TIE1 Nonsynonymous SNV A155G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 112145 chr10 129347809 129347809 G C rs186831805 NPS Nonsynonymous SNV W22S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.027 112146 chr1 240256312 240256312 C T rs754511896 FMN2 Synonymous SNV V301V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.259 112147 chr2 20823751 20823751 G A rs142666054 HS1BP3 Synonymous SNV I275I 0.009 0.01 0.02 4 10 4 0.01 6 0 0 0 0 2.526 112148 chr12 9085788 9085788 C G rs201210657 PHC1 Nonsynonymous SNV P579A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.373 112149 chr1 45266336 45266336 G A rs374476487 PLK3 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 112150 chr22 50217441 50217441 G A rs775181968 BRD1 Synonymous SNV G175G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.975 112151 chr22 31687190 31687190 C T rs967281190 PIK3IP1 Nonsynonymous SNV G55R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.55 112152 chr1 46655602 46655602 G C rs760119298 POMGNT1 Nonsynonymous SNV T548R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 112153 chr22 42394843 42394843 C T rs750997104 WBP2NL Synonymous SNV H7H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.864 112154 chr22 42608107 42608107 C T TCF20 Nonsynonymous SNV A1069T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 112155 chr22 42608113 42608113 T G TCF20 Nonsynonymous SNV T1067P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.88 112156 chr1 245006474 245006474 A G rs61749963 COX20 Nonsynonymous SNV N73S 0.012 0.01 0.003 2 14 4 0.005 1 1 1 0 0 Benign 9.335 112157 chr22 35783154 35783154 C T rs144886838 HMOX1 Synonymous SNV F207F 0.014 0.01 0 4 16 4 0.01 0 0 0 0 0 14.86 112158 chr22 43933285 43933286 CT - rs3833393 EFCAB6 Q1188Rfs*43 0.005 0.005 0.017 2 6 2 0.005 5 0 0 0 0 112159 chr22 50704728 50704728 T - MAPK11 D230Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 112160 chr10 135233079 135233079 A G MTG1 Nonsynonymous SNV K283R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 112161 chr1 52891053 52891053 C T rs148824635 TUT4 Nonsynonymous SNV R1613Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 112162 chr1 52941096 52941096 G A rs780205463 TUT4 Nonsynonymous SNV T712M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.289 112163 chr22 50925884 50925884 G A rs151151350 MIOX Nonsynonymous SNV R29Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.6 112164 chr22 50944203 50944203 G A rs9628197 LMF2 Synonymous SNV N247N 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 9.289 112165 chr22 50962065 50962065 G A rs8139305 SCO2 Nonsynonymous SNV A259V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 5.411 112166 chr20 34571994 34571994 C T rs375944438 CNBD2 Synonymous SNV D166D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 8.511 112167 chr12 12982388 12982388 G A rs376772927 DDX47 Nonsynonymous SNV R374H 0.002 0 0 5 2 0 0.013 0 0 0 0 0 24 112168 chr20 35152720 35152720 C T rs772350950 DLGAP4 Synonymous SNV F153F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.36 112169 chr1 248020642 248020642 G A rs753804289 TRIM58 Nonsynonymous SNV G32S 0.001 0 0 0 1 0 0 0 0 0 0 0 29 112170 chr22 40657999 40657999 G A rs79111570 TNRC6B Synonymous SNV P93P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 112171 chr22 40802519 40802519 C T rs749911127 SGSM3 Synonymous SNV D283D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.671 112172 chr10 21074723 21074723 C T NEBL Nonsynonymous SNV G256R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 112173 chr22 42086791 42086791 C T rs373288611 C22orf46 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 33 112174 chr10 22605438 22605438 C A rs140293380 COMMD3, COMMD3-BMI1 Nonsynonymous SNV A31E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 29.5 112175 chr20 42198152 42198152 G A SGK2 Nonsynonymous SNV G179E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 112176 chr12 21624559 21624563 TGTTA - RECQL I489Rfs*18 0 0 0 2 0 0 0.005 0 0 0 0 0 112177 chr22 50987175 50987175 G T rs116500907 KLHDC7B Nonsynonymous SNV V835L 0.003 0.005 0.027 2 4 2 0.005 8 0 0 0 0 13.2 112178 chr22 22869535 22869535 C T rs748149128 ZNF280A Synonymous SNV S140S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.859 112179 chr1 26361669 26361669 C A rs61742342 EXTL1 Nonsynonymous SNV P621Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 17.8 112180 chr1 26361670 26361670 G T rs61739493 EXTL1 Synonymous SNV P621P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.711 112181 chr2 101874267 101874267 A G CNOT11 Nonsynonymous SNV I177V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.76 112182 chr10 3822385 3822385 T G KLF6 Nonsynonymous SNV E196A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 112183 chr2 228158021 228158021 C T rs55816283 COL4A3 Nonsynonymous SNV P1109S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.35 112184 chr10 46967051 46967051 C - rs199961566 LOC101927699 0 0 0.007 0 0 0 0 2 0 0 0 0 112185 chr2 108875270 108875270 G A rs61743196 SULT1C3 Nonsynonymous SNV E203K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 25.4 112186 chr1 29185484 29185484 G A rs775151883 OPRD1 Synonymous SNV T82T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.8 112187 chr2 109068891 109068891 C G rs73954346 GCC2 Nonsynonymous SNV P62R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.069 112188 chr22 26854505 26854505 G A rs780284817 HPS4 Synonymous SNV V579V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.311 112189 chr2 121107006 121107006 G A INHBB Synonymous SNV V260V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.629 112190 chr20 48471975 48471975 T C rs145749915 SLC9A8 Synonymous SNV S206S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.306 112191 chr2 109109236 109109236 G T rs73954367 GCC2 Synonymous SNV P1479P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.237 112192 chr2 109513567 109513567 G A rs143639120 EDAR Synonymous SNV F381F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.939 112193 chr22 26937610 26937610 C A TPST2 Nonsynonymous SNV C50F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.523 112194 chr2 111753543 111753596 GTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATACACTGT - ACOXL L416_V428del 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 112195 chr1 31896608 31896608 C T rs78029434 SERINC2 Synonymous SNV T40T 0.014 0.013 0.01 5 16 5 0.013 3 0 0 0 0 14.36 112196 chr22 29656697 29656697 C A rs114640172 RHBDD3 Nonsynonymous SNV G230V 0.006 0 0 0 7 0 0 0 0 0 0 0 22.5 112197 chr2 232995439 232995439 T G rs184764939 DIS3L2 Nonsynonymous SNV Y238D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 16.48 112198 chr2 12858516 12858516 C T rs200063071 TRIB2 Nonsynonymous SNV S28L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 112199 chr1 68954143 68954143 T C rs779426408 DEPDC1 Nonsynonymous SNV N212S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.32 112200 chr12 48372111 48372111 C T rs756155678 COL2A1 Nonsynonymous SNV R920H 0 0 0 4 0 0 0.01 0 0 0 0 0 29.3 112201 chr22 30639952 30639952 C T rs141563207 LIF Nonsynonymous SNV G40S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.07 112202 chr22 50969725 50969725 C T rs757342373 ODF3B 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 112203 chr2 131688720 131688720 G A rs141778984 ARHGEF4 Nonsynonymous SNV V1250I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.001 112204 chr1 33329899 33329899 A G rs200027292 FNDC5 Nonsynonymous SNV I212T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 112205 chr1 33764618 33764618 G A rs35620942 ZNF362 Nonsynonymous SNV G412S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.77 112206 chr1 3380096 3380096 C T rs950860602 ARHGEF16 Nonsynonymous SNV R150W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.9 112207 chr20 57429844 57429844 C T rs111796234 GNAS Nonsynonymous SNV P446L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.92 112208 chr2 234717888 234717888 C T rs74811281 MROH2A Synonymous SNV T804T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.12 112209 chr1 35223706 35223706 C G rs772599354 GJB5 Nonsynonymous SNV L259V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 112210 chr1 35260747 35260747 A G rs537232993 GJA4 Synonymous SNV P311P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.544 112211 chr12 50571079 50571079 C T rs147543382 LIMA1 Nonsynonymous SNV G381D 0.006 0.005 0 15 7 2 0.038 0 0 0 0 0 23 112212 chr1 36636844 36636844 A C rs760425904 MAP7D1 Synonymous SNV R107R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.834 112213 chr2 122220133 122220133 G A CLASP1 Nonsynonymous SNV A305V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 112214 chr1 36786100 36786101 GA - rs767626565 SH3D21 E503Gfs*23 0.002 0 0 0 2 0 0 0 0 0 0 0 112215 chr2 128350414 128350414 A G MYO7B Nonsynonymous SNV M680V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 112216 chr22 31807042 31807042 A G rs144674118 DRG1 Synonymous SNV K129K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.135 112217 chr2 128392734 128392734 G A rs143550775 MYO7B Nonsynonymous SNV R1892Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 34 112218 chr2 105924424 105924424 G A TGFBRAP1 Nonsynonymous SNV S112L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 112219 chr2 238726702 238726702 C T rs192954260 RBM44 Synonymous SNV S381S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.96 112220 chr1 38188820 38188820 C T rs185125532 EPHA10 Nonsynonymous SNV R618H 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 31 112221 chr10 63445843 63445843 G A CABCOCO1 Nonsynonymous SNV V39I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 112222 chr20 61444969 61444969 G A rs765404092 OGFR Nonsynonymous SNV V668M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 112223 chr22 37465386 37465390 TGGGG - rs200434923 TMPRSS6 0.008 0 0 6 9 0 0.015 0 4 0 0 3 112224 chr12 52777466 52777466 C A rs138204915 KRT84 Synonymous SNV L221L 0.001 0 0 5 1 0 0.013 0 0 0 0 0 12.22 112225 chr22 37578393 37578393 G A rs373048446 C1QTNF6 Synonymous SNV S224S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.5 112226 chr12 52778829 52778829 C A rs140632920 KRT84 Nonsynonymous SNV D181Y 0.001 0 0 5 1 0 0.013 0 0 0 0 0 29 112227 chr12 52779159 52779159 G A rs145217788 KRT84 Nonsynonymous SNV R71W 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.22 112228 chr1 40726657 40726657 T C ZMPSTE24 Synonymous SNV T90T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 112229 chr2 241536202 241536202 C T CAPN10 Nonsynonymous SNV A529V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.2 112230 chr2 158617570 158617570 G T rs149498219 ACVR1 Synonymous SNV S362S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 8.578 112231 chr2 11738846 11738846 G A rs201947141 GREB1 Synonymous SNV T731T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 6.554 112232 chr22 42609845 42609845 G A rs78356795 TCF20 Synonymous SNV P489P 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 Benign 2.679 112233 chr2 1647216 1647216 C G rs377271958 PXDN Synonymous SNV A1292A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 112234 chr2 160027235 160027235 A G rs201043889 TANC1 Nonsynonymous SNV I223V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 10.88 112235 chr2 166003258 166003258 G A rs760885665 SCN3A Synonymous SNV S554S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.373 112236 chr10 75276211 75276211 C A rs765600201 USP54 Nonsynonymous SNV A1268S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 112237 chr2 25141536 25141536 G A rs1031806656 ADCY3 Synonymous SNV S107S 0.003 0 0 0 4 0 0 0 0 0 0 0 3.639 112238 chr10 77162966 77162966 C T rs72807459 ZNF503-AS2 0 0 0.037 0 0 0 0 11 0 0 0 0 12.49 112239 chr1 45294858 45294858 C T rs764006611 PTCH2 Nonsynonymous SNV G448S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 112240 chr2 170048482 170048482 C T rs149148763 LRP2 Synonymous SNV R2964R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.31 112241 chr22 51159258 51159258 C T rs144470529 SHANK3 Synonymous SNV Y1060Y 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 Benign 3.325 112242 chr10 85984129 85984129 A G LRIT2 Synonymous SNV I284I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.313 112243 chr2 135630127 135630127 G A rs138304352 ACMSD Synonymous SNV P197P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.98 112244 chr20 13976448 13976448 G T rs149739332 MACROD2 Nonsynonymous SNV E13D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 112245 chr10 88719758 88719758 T C rs142957751 SNCG Nonsynonymous SNV V55A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 112246 chr10 89504824 89504824 T C rs748087437 PAPSS2 Synonymous SNV P514P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.936 112247 chr2 1371178 1371178 G A SNTG2 Nonsynonymous SNV V518M 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 112248 chr22 46805772 46805772 C T rs11704506 CELSR1 Nonsynonymous SNV A1647T 0.024 0.021 0.027 12 28 8 0.031 8 0 1 0 1 16.76 112249 chr2 28816613 28816613 G A rs561582042 PLB1 Synonymous SNV L760L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.953 112250 chr1 4829963 4829963 A G rs144818013 AJAP1 Nonsynonymous SNV I294V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.21 112251 chr2 141751634 141751634 G A LRP1B Synonymous SNV I858I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.95 112252 chr1 52851608 52851608 G A rs3087481 ORC1 Nonsynonymous SNV T466M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 20.7 112253 chr10 93741972 93741972 A G rs149461421 BTAF1 Nonsynonymous SNV M680V 0.004 0 0.007 0 5 0 0 2 0 0 0 0 12.58 112254 chr2 179472319 179472319 C T rs72646808 TTN Nonsynonymous SNV R8634H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 112255 chr20 19701641 19701641 G A rs142611512 SLC24A3 Nonsynonymous SNV G598S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 112256 chr2 32927929 32927929 G A rs750852908 TTC27 Nonsynonymous SNV R342Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 112257 chr10 96053340 96053340 A G rs201633028 PLCE1 Nonsynonymous SNV N1396S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.32 112258 chr10 97721616 97721616 G A rs41291590 CC2D2B Synonymous SNV R380R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.79 112259 chr12 57492645 57492645 T C STAT6 Nonsynonymous SNV M556V 0 0 0 4 0 0 0.01 0 0 0 0 0 11.94 112260 chr20 22563501 22563501 T C rs202108779 FOXA2 Nonsynonymous SNV M127V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 112261 chr10 98082467 98082467 A G rs144787508 DNTT Synonymous SNV E244E 0.007 0.016 0.01 2 8 6 0.005 3 0 0 0 0 Benign 6.374 112262 chr10 99683022 99683022 T C rs141406261 CRTAC1 Nonsynonymous SNV K186R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 112263 chr11 100221596 100221596 A T rs1944169 CNTN5 Nonsynonymous SNV Y991F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.608 112264 chr2 38893338 38893338 T C rs201350001 GALM Nonsynonymous SNV L12P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 27.4 112265 chr2 119739817 119739817 C T rs61732824 MARCO Synonymous SNV S329S 0.004 0.008 0.014 2 5 3 0.005 4 0 0 0 0 8.316 112266 chr2 44173276 44173276 T C LRPPRC Nonsynonymous SNV D729G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 112267 chr12 68051947 68051947 C T rs368304778 DYRK2 Synonymous SNV P347P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.317 112268 chr1 6341318 6341318 C T ACOT7 Nonsynonymous SNV M286I 0.002 0 0 0 2 0 0 0 0 0 0 0 21 112269 chr2 102476165 102476165 C G rs377671536 MAP4K4 Nonsynonymous SNV Q515E 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.3 112270 chr2 120925070 120925070 G A rs760264529 EPB41L5 Nonsynonymous SNV R664Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 112271 chr2 47233090 47233090 G T rs113844968 TTC7A Synonymous SNV V11V 0.015 0.013 0.003 0 18 5 0 1 0 0 0 0 Benign 0.223 112272 chr11 1017249 1017249 C T rs761456394 MUC6 Nonsynonymous SNV S1851N 0.001 0 0.024 0 1 0 0 7 0 0 0 0 0.006 112273 chr21 43800281 43800281 G A rs397517380 TMPRSS3 Synonymous SNV N204N 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Likely benign 2.044 112274 chr12 72024662 72024662 C G rs186434284 ZFC3H1 Synonymous SNV P1181P 0.003 0.005 0.007 7 4 2 0.018 2 0 0 0 2 Benign 12.99 112275 chr2 108614308 108614308 G A SLC5A7 Nonsynonymous SNV V50M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 32 112276 chr20 334123 334123 C T rs758586867 NRSN2 Synonymous SNV P153P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 112277 chr12 80190712 80190712 G C rs202058179 PPP1R12A Nonsynonymous SNV P715A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 17.39 112278 chr12 80603268 80603268 T C OTOGL Synonymous SNV H10H 0 0 0 4 0 0 0.01 0 0 0 0 0 0.466 112279 chr1 67648633 67648633 A G rs376377228 IL23R Nonsynonymous SNV H161R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 112280 chr2 110372802 110372810 TCGGTGGCC - rs775437106 SOWAHC V247_S249del 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 112281 chr2 175213645 175213645 G C rs73975114 CIR1 Nonsynonymous SNV D311E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.046 112282 chr2 177034130 177034130 G A rs77818566 HOXD3 Synonymous SNV G96G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 7.901 112283 chr2 189912958 189912958 G A rs374549843 COL5A2 Nonsynonymous SNV R1060W 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 24.7 112284 chr2 61597676 61597676 T C rs375862183 USP34 Nonsynonymous SNV N372S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.8 112285 chr12 89917874 89917874 C A GALNT4, POC1B-GALNT4 Nonsynonymous SNV L151F 0 0 0 4 0 0 0.01 0 0 0 0 0 25 112286 chr2 201437618 201437618 A G SGO2 Nonsynonymous SNV E850G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.881 112287 chr2 201503018 201503018 A G rs112951726 AOX1 Nonsynonymous SNV K854R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.8 112288 chr12 94543489 94543489 T C PLXNC1 Nonsynonymous SNV Y248H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 112289 chr1 79358827 79358827 G T rs1968956 ADGRL4 Nonsynonymous SNV H599Q 0.018 0.008 0.017 11 21 3 0.028 5 0 0 0 1 26.5 112290 chr1 79411968 79411968 C A rs41313381 ADGRL4 Nonsynonymous SNV V106F 0.028 0.013 0.017 15 33 5 0.038 5 0 0 0 1 5.409 112291 chr20 39793933 39793933 A G PLCG1 Nonsynonymous SNV M479V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.8 112292 chr2 202436700 202436700 T C C2CD6 Nonsynonymous SNV N266S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.4 112293 chr20 39978974 39978974 A G LPIN3 Nonsynonymous SNV S348G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.2 112294 chr20 39993740 39993740 C T rs61739304 EMILIN3 Synonymous SNV A75A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.97 112295 chr2 202671405 202671405 T C rs370287917 CDK15 Synonymous SNV C6C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.348 112296 chr2 204359957 204359957 C T rs202191752 RAPH1 Synonymous SNV Q40Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 112297 chr2 20212208 20212208 G A rs920755164 MATN3 Nonsynonymous SNV A62V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 0.02 112298 chr11 111384426 111384426 T G rs28690953 LOC728196 0 0 0.017 0 0 0 0 5 0 0 1 0 0.288 112299 chr2 186607911 186607911 T C rs76731554 FSIP2 Synonymous SNV L93L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.012 112300 chr2 7213370 7213370 G T RNF144A Nonsynonymous SNV K275N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.999 112301 chr2 186618494 186618494 A G rs9808218 FSIP2 Nonsynonymous SNV M306V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 16.1 112302 chr2 186662075 186662075 G A rs10173413 FSIP2 Synonymous SNV R3404R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.032 112303 chr20 44470575 44470575 G A rs148674138 ACOT8 Nonsynonymous SNV H288Y 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 23.2 112304 chr20 44596518 44596518 G A rs751020712 ZNF335 Synonymous SNV S223S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.964 112305 chr2 186673628 186673628 T C rs13428732 FSIP2 Nonsynonymous SNV I6532T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.5 112306 chr12 108145500 108145500 A C PRDM4 Nonsynonymous SNV I273S 0 0 0 3 0 0 0.008 0 0 0 0 0 23.6 112307 chr2 135741367 135741367 T C rs55832179 MAP3K19 Nonsynonymous SNV D921G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.52 112308 chr2 187559029 187559029 - CAGCAGCAG rs549897920 FAM171B Q56_K57insQQQ 0.01 0.01 0.003 0 12 4 0 1 0 0 0 0 112309 chr11 113639557 113639557 C T rs142687231 ZW10 Nonsynonymous SNV E80K 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 33 112310 chr20 46294691 46294691 G A rs79982126 SULF2 Synonymous SNV Y604Y 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 0.476 112311 chr2 188331704 188331704 C T rs5940 TFPI Nonsynonymous SNV V292M 0.012 0.013 0.003 2 14 5 0.005 1 1 0 0 0 9.033 112312 chr2 150064871 150064871 C T rs202192263 LYPD6B Synonymous SNV N53N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 112313 chr2 190626234 190626234 T A rs757930168 OSGEPL1 Nonsynonymous SNV S56C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 112314 chr20 48140626 48140626 C T rs61734270 PTGIS Nonsynonymous SNV R275Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely pathogenic 29.5 112315 chr2 191301821 191301821 G A rs371311716 MFSD6 Nonsynonymous SNV D356N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.977 112316 chr2 215818623 215818623 A G ABCA12 Nonsynonymous SNV F1883S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 112317 chr2 211019279 211019279 C T rs764298994 KANSL1L Nonsynonymous SNV A10T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.526 112318 chr2 197559817 197559817 G C CCDC150 Nonsynonymous SNV E187D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 21.5 112319 chr2 197650314 197650314 - A rs772876665 GTF3C3 0.004 0 0 1 5 0 0.003 0 0 0 0 0 112320 chr2 88408013 88408013 C T rs150344451 SMYD1 Synonymous SNV L410L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 112321 chr20 52198082 52198082 C A ZNF217 Synonymous SNV L428L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.527 112322 chr1 978762 978762 G A rs138288952 AGRN Nonsynonymous SNV G510S 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Benign/Likely benign 24.3 112323 chr2 218762686 218762686 C T TNS1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 112324 chr22 22892255 22892255 C T rs146846539 PRAME Synonymous SNV E266E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 6.594 112325 chr11 120929151 120929151 C G rs35380371 TBCEL Synonymous SNV T270T 0.006 0 0.02 3 7 0 0.008 6 0 0 0 0 14.37 112326 chr11 121000679 121000679 G A rs375406423 TECTA Synonymous SNV S900S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 7.674 112327 chr2 202552049 202552049 C T rs58286283 MPP4 Nonsynonymous SNV E109K 0.003 0 0.003 0 4 0 0 1 1 0 0 0 34 112328 chr12 120650453 120650453 G C rs542519174 PXN-AS1 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.702 112329 chr11 12315945 12315945 G A rs76685199 MICALCL Nonsynonymous SNV G323R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.842 112330 chr11 12316345 12316353 CTCCTCCTC - rs761605598 MICALCL P468_P470del 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 112331 chr22 24981983 24981983 G A rs41277317 LRRC75B Synonymous SNV L273L 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 9.031 112332 chr2 220313250 220313250 T G SPEG Nonsynonymous SNV L457R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 112333 chr2 207310189 207310189 T G rs112012170 ADAM23 Nonsynonymous SNV S125A 0.009 0.005 0.01 2 10 2 0.005 3 1 0 0 0 Likely benign 22.8 112334 chr20 60427810 60427810 C G rs759254193 CDH4 Nonsynonymous SNV L208V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 112335 chr3 111296389 111296389 G A rs774695561 CD96 Nonsynonymous SNV G195D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 112336 chr2 223795406 223795406 A G ACSL3 Synonymous SNV T536T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.464 112337 chr11 124845089 124845089 G A CCDC15 Nonsynonymous SNV S205N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 112338 chr11 12535573 12535573 G A rs141314414 PARVA Synonymous SNV L276L 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 12.93 112339 chr12 124323006 124323006 A G rs145483216 DNAH10 Nonsynonymous SNV M1518V 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 24.6 112340 chr2 171702085 171702085 A G GAD1 Nonsynonymous SNV K274R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 112341 chr12 124356025 124356025 G T rs201908206 DNAH10 Nonsynonymous SNV R2436L 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 24.6 112342 chr12 124364300 124364300 C T rs199756608 DNAH10 Synonymous SNV R2744R 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 6.608 112343 chr20 61299458 61299458 C A rs752778758 SLCO4A1 Nonsynonymous SNV P578H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 112344 chr12 124817711 124817711 C T rs188154393 NCOR2 Synonymous SNV P2230P 0.003 0.008 0.014 7 4 3 0.018 4 0 0 0 0 14.3 112345 chr2 220422583 220422583 G A rs145485683 OBSL1 Nonsynonymous SNV P1251L 0.013 0.01 0.014 4 15 4 0.01 4 0 0 0 0 Benign 9.995 112346 chr11 126858406 126858406 A T rs634171 MIR3167 0 0 0.051 0 0 0 0 15 0 0 5 0 1.344 112347 chr11 128397154 128397154 G C rs187812198 ETS1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 112348 chr2 17830784 17830784 C G VSNL1 Synonymous SNV S90S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.76 112349 chr2 223507569 223507569 C T FARSB 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.8 112350 chr11 130263451 130263451 C T rs569176226 ZBTB44-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 7.306 112351 chr12 130387852 130387852 G A rs573677143 TMEM132D Synonymous SNV H11H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.06 112352 chr12 130648225 130648225 G A rs147367559 FZD10 Synonymous SNV V246V 0 0 0 4 0 0 0.01 0 0 0 0 0 4.484 112353 chr12 130935827 130935827 C T rs139113247 RIMBP2 Synonymous SNV P122P 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 9.866 112354 chr2 231973558 231973558 T C rs200761257 HTR2B Synonymous SNV S373S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.041 112355 chr20 62596000 62596000 G T rs372744819 ZNF512B Synonymous SNV G368G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.281 112356 chr3 121192235 121192235 G A rs776545160 POLQ Nonsynonymous SNV R2169C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 21.3 112357 chr2 179597600 179597600 C T rs72648937 TTN Nonsynonymous SNV V4191M 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 112358 chr2 179599667 179599667 G C rs72648927 TTN Nonsynonymous SNV P3751R 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Benign/Likely benign 14.26 112359 chr11 18743091 18743091 G A rs76507217 IGSF22 Synonymous SNV H123H 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 14.1 112360 chr20 31606542 31606542 G A rs138569633 BPIFB2 Nonsynonymous SNV V257M 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.87 112361 chr11 18956213 18956213 A G rs774285326 MRGPRX1 Nonsynonymous SNV V40A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.929 112362 chr2 220420906 220420906 C T rs779614614 OBSL1 Nonsynonymous SNV R1482H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 112363 chr20 31647696 31647696 G T rs11697151 BPIFB3 0.009 0.013 0 1 11 5 0.003 0 0 0 0 0 22.1 112364 chr2 17998043 17998043 G A rs149704294 MSGN1 Synonymous SNV G86G 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.008 112365 chr13 21370317 21370317 T A rs117470697 XPO4 Nonsynonymous SNV I899L 0.008 0.005 0.01 9 9 2 0.023 3 0 0 0 0 13.1 112366 chr21 31587620 31587620 A C rs146073584 CLDN8 Nonsynonymous SNV S208R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.195 112367 chr2 223386531 223386531 C A rs751694231 SGPP2 Nonsynonymous SNV P14T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 112368 chr22 43831023 43831023 C T rs148349207 MPPED1 Synonymous SNV T98T 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 12.75 112369 chr20 33370122 33370122 A G rs150919437 NCOA6 Nonsynonymous SNV Y13H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23 112370 chr13 23928711 23928711 G A rs142115704 SACS Synonymous SNV S533S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Likely benign 7.519 112371 chr11 20696085 20696085 C T rs1793006 NELL1 Synonymous SNV L36L 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 6.235 112372 chr2 238768324 238768324 C T rs2304436 RAMP1 Synonymous SNV A2A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.76 112373 chr3 125824595 125824595 T C rs142086991 ALDH1L1 Nonsynonymous SNV K775R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.8 112374 chr11 22257752 22257752 G T rs137854523 ANO5 Nonsynonymous SNV G230V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Pathogenic/Likely pathogenic 25.1 112375 chr21 33975465 33975465 A G rs372359409 CFAP298 Synonymous SNV S224S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.8 112376 chr11 2335749 2335749 G A rs142056890 TSPAN32 Nonsynonymous SNV R164H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 112377 chr13 27669831 27669831 A G rs373565496 USP12 Synonymous SNV N160N 0.002 0.018 0 5 2 7 0.013 0 0 0 0 0 4.269 112378 chr13 32652979 32652979 G A rs35417728 FRY Nonsynonymous SNV V27I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 16.46 112379 chr2 241531437 241531437 C G rs1001147367 CAPN10 Nonsynonymous SNV N186K 0.003 0 0 0 3 0 0 0 0 0 0 0 12.45 112380 chr21 38309459 38309459 C T rs61732502 HLCS Nonsynonymous SNV V243I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 0.021 112381 chr21 38309619 38309619 C A rs61732504 HLCS Nonsynonymous SNV E189D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 3.25 112382 chr3 12942761 12942761 G A rs571426372 IQSEC1 Synonymous SNV A1022A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.03 112383 chr11 32460157 32460157 C A rs117996720 WT1-AS 0 0 0.044 0 0 0 0 13 0 0 0 0 13.38 112384 chr2 201303848 201303848 G A rs192861441 SPATS2L Nonsynonymous SNV G90D 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Likely benign 23.3 112385 chr21 42813771 42813771 C G rs147811042 MX1 Nonsynonymous SNV Q287E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 112386 chr11 33308469 33308469 G A rs34698015 HIPK3 Nonsynonymous SNV G170E 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 16.04 112387 chr11 34182614 34182614 G C ABTB2 Nonsynonymous SNV L745V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 112388 chr3 134851605 134851605 C T rs56401137 EPHB1 Synonymous SNV S337S 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 11.87 112389 chr22 50589283 50589283 G A rs757715982 MOV10L1 Synonymous SNV R76R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.697 112390 chr3 136062724 136062724 C G rs34149860 STAG1 Nonsynonymous SNV Q1132H 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 13.34 112391 chr20 47269963 47269963 T C rs146210678 PREX1 Nonsynonymous SNV N761S 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Likely benign 0.012 112392 chr11 43923096 43923096 C T rs2271815 ALKBH3 Nonsynonymous SNV R164C 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 35 112393 chr21 43959645 43959645 C T rs765963882 SLC37A1 Nonsynonymous SNV P125L 0.001 0 0 0 1 0 0 0 0 0 0 0 30 112394 chr11 45793023 45793023 T G rs2666890 LINC02716 0 0 0.105 0 0 0 0 31 0 0 1 0 6.971 112395 chr2 27324742 27324742 C T rs61750982 CGREF1 Synonymous SNV V119V 0.013 0.008 0.007 2 15 3 0.005 2 2 0 0 0 15 112396 chr2 27672200 27672200 C T rs147850047 IFT172 Synonymous SNV Q1424Q 0.013 0.013 0.014 5 15 5 0.013 4 0 0 0 0 Benign 12.46 112397 chr2 27677498 27677498 C A rs148624326 IFT172 Nonsynonymous SNV R1134L 0.013 0.013 0.014 5 15 5 0.013 4 0 0 0 0 Benign/Likely benign 35 112398 chr13 70681453 70681453 C T rs147593232 KLHL1 Nonsynonymous SNV E127K 0 0 0 3 0 0 0.008 0 0 0 0 0 19.17 112399 chr2 28812900 28812900 G A rs142897830 PLB1 Nonsynonymous SNV R671H 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 Likely benign 4.418 112400 chr2 27883939 27883939 G C rs200392709 SUPT7L Nonsynonymous SNV L111V 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 14.33 112401 chr2 28823708 28823708 A G PLB1 Nonsynonymous SNV Q825R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.31 112402 chr21 47422195 47422195 G A rs147219060 COL6A1 Synonymous SNV T710T 0.009 0.005 0.014 1 10 2 0.003 4 0 0 0 0 Benign/Likely benign 15.28 112403 chr2 29222136 29222145 CTGGACACCC - rs557040141 TOGARAM2 D78Pfs*89 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 112404 chr20 56803624 56803624 G C rs146771462 ANKRD60 Nonsynonymous SNV S29C 0.003 0 0.003 2 3 0 0.005 1 0 0 0 1 1.85 112405 chr2 242063460 242063460 T C rs56113344 PASK Synonymous SNV Q936Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.173 112406 chr2 242129515 242129515 G A rs2302054 ANO7 Nonsynonymous SNV V13I 0.009 0.021 0 2 11 8 0.005 0 1 0 0 0 5.176 112407 chr2 216253020 216253020 G A rs141157994 FN1 Synonymous SNV L1328L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.23 112408 chr2 24244567 24244567 T C MFSD2B Nonsynonymous SNV V244A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.5 112409 chr2 218686561 218686561 G A TNS1 Synonymous SNV A1033A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.758 112410 chr2 37395103 37395103 T C rs45495394 SULT6B1 Nonsynonymous SNV K296R 0.014 0.01 0.017 5 17 4 0.013 5 0 0 0 0 23.6 112411 chr2 33824285 33824285 C G FAM98A Nonsynonymous SNV E2Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.3 112412 chr2 219457413 219457413 A C rs145677437 CNOT9 Synonymous SNV R238R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.915 112413 chr20 60892782 60892782 T A rs76350903 LAMA5 Nonsynonymous SNV H2431L 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 10.31 112414 chr20 60893612 60893612 G A rs115949677 LAMA5 Synonymous SNV A2379A 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Benign 10.41 112415 chr2 113007785 113007785 C T rs200780916 ZC3H8 Nonsynonymous SNV E47K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 112416 chr20 60969261 60969261 G A rs61739602 CABLES2 Synonymous SNV S222S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 10.58 112417 chr2 38525342 38525342 C G ATL2 Nonsynonymous SNV E355Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.27 112418 chr22 19119490 19119490 A C rs142906174 TSSK2 Nonsynonymous SNV Q193P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 112419 chr2 40656105 40656105 G A rs774087244 SLC8A1 Nonsynonymous SNV T439I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 112420 chr2 26806664 26806664 G A rs199690949 CIB4 Nonsynonymous SNV T144M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.378 112421 chr2 220047173 220047173 A T rs142503044 RETREG2 Nonsynonymous SNV E278V 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 23.7 112422 chr2 43458127 43458127 G A rs753930206 THADA Nonsynonymous SNV S1941L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.466 112423 chr2 220161821 220161821 G A PTPRN Nonsynonymous SNV R679C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 112424 chr2 232325414 232325414 T A rs199689485 NCL Nonsynonymous SNV E259D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 112425 chr2 43451739 43451739 - CTGCTGCTG rs556928050 ZFP36L2 Q401_G402insQQQ 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 112426 chr22 20043504 20043504 G A rs142442293 TANGO2 Nonsynonymous SNV R42Q 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 Benign/Likely benign 23.5 112427 chr2 44201360 44201360 G T LRPPRC Nonsynonymous SNV P362T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.874 112428 chr20 61950849 61950849 G A rs148231100 COL20A1 Synonymous SNV K939K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.186 112429 chr2 44428461 44428461 A G PPM1B Synonymous SNV T41T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.736 112430 chr2 45801829 45801829 A G rs775248651 SRBD1 Nonsynonymous SNV V369A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 112431 chr22 21330753 21330753 C T rs139810844 AIFM3 Nonsynonymous SNV T319M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 112432 chr13 111368009 111368009 C G rs750740457 ING1 Synonymous SNV G73G 0.001 0 0 5 1 0 0.013 0 0 0 0 0 12.5 112433 chr13 113201861 113201861 T A rs113881987 TUBGCP3 Nonsynonymous SNV D414V 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 10.51 112434 chr2 29226462 29226462 G A rs960296598 TOGARAM2 Synonymous SNV A248A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.214 112435 chr3 183873543 183873543 C T rs201408685 DVL3 Synonymous SNV P40P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.48 112436 chr2 29293492 29293492 G A PCARE Synonymous SNV S1212S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.209 112437 chr3 184429471 184429471 C T rs375537906 MAGEF1 Nonsynonymous SNV E47K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.2 112438 chr2 54001442 54001442 C T rs143366196 CHAC2 Nonsynonymous SNV T112I 0.005 0.013 0.007 1 6 5 0.003 2 0 0 0 0 27.3 112439 chr2 227662103 227662103 C A rs564378481 IRS1 Nonsynonymous SNV G451V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 112440 chr3 185641671 185641671 G A rs143859412 TRA2B Synonymous SNV A45A 0.005 0 0 0 6 0 0 0 0 0 0 0 12.53 112441 chr11 533906 533906 C T rs1057520421 HRAS Synonymous SNV T50T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.871 112442 chr2 54826236 54826236 T A SPTBN1 Synonymous SNV R39R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.69 112443 chr2 55436888 55436888 A G rs138685385 CLHC1 Synonymous SNV I53I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.38 112444 chr20 62659840 62659840 C T rs138601260 PRPF6 Synonymous SNV S783S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11.25 112445 chr2 232263031 232263031 G A rs202096056 B3GNT7 Nonsynonymous SNV G201S 0.006 0 0 0 7 0 0 0 0 0 0 0 14.86 112446 chr22 29730346 29730346 G A rs137904558 AP1B1 Synonymous SNV T732T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.322 112447 chr3 193332603 193332603 C T rs145563233 OPA1 Nonsynonymous SNV H42Y 0.004 0 0 2 5 0 0.005 0 0 0 0 0 18.08 112448 chr2 69049519 69049519 T A rs143574274 ARHGAP25 Nonsynonymous SNV D409E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 112449 chr2 40657408 40657408 G A rs200360506 SLC8A1 Nonsynonymous SNV R5W 0.009 0.008 0 0 10 3 0 0 0 0 0 0 13.51 112450 chr21 31720911 31720911 C T rs144494179 KRTAP23-1 Nonsynonymous SNV C5Y 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 0.099 112451 chr2 44058956 44058956 G T rs753629544 ABCG5 Synonymous SNV T151T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 112452 chr2 242402803 242402803 G A rs768579504 FARP2 Synonymous SNV T577T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.07 112453 chr22 31942855 31942855 A G rs775548328 SFI1 Nonsynonymous SNV Y34C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 112454 chr14 22138774 22138774 C T rs144393893 OR4E1 Nonsynonymous SNV R126Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.82 112455 chr2 48707089 48707089 A G rs759904687 PPP1R21 Nonsynonymous SNV T418A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.691 112456 chr3 195802106 195802106 G A rs41300443 TFRC Synonymous SNV A54A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.445 112457 chr22 32831789 32831789 A G BPIFC Nonsynonymous SNV S276P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 112458 chr2 73635867 73635867 G A rs757606922 ALMS1 Nonsynonymous SNV D148N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Uncertain significance 17.4 112459 chr2 74320073 74320073 C T rs373633219 TET3 Synonymous SNV V935V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.17 112460 chr2 74076511 74076511 G A rs146601260 STAMBP Nonsynonymous SNV R120H 0.003 0.008 0.014 0 3 3 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 112461 chr2 74702409 74702409 A T CCDC142 Nonsynonymous SNV L580Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 112462 chr11 55747013 55747013 C T rs17527788 OR7E5P 0 0 0.051 0 0 0 0 15 0 0 0 0 5.144 112463 chr11 55747136 55747136 G C rs12099295 OR7E5P 0 0 0.054 0 0 0 0 16 0 0 0 0 0.868 112464 chr2 55130242 55130242 G C EML6 Synonymous SNV G1062G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.023 112465 chr11 55747411 55747411 T C rs61896255 OR7E5P 0 0 0.048 0 0 0 0 14 0 0 0 0 1.47 112466 chr2 75113496 75113496 C T rs748406880 HK2 Nonsynonymous SNV H671Y 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 21.4 112467 chr14 23392431 23392431 G T rs181650384 PRMT5-AS1 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.488 112468 chr21 35757862 35757862 T C rs78481066 SMIM11A, SMIM11B Synonymous SNV Y33Y 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.113 112469 chr22 37494580 37494580 G A rs139563689 TMPRSS6 Nonsynonymous SNV A71V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.11 112470 chr2 84811253 84811253 G A rs757399618 DNAH6 Nonsynonymous SNV R787Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 112471 chr3 36779281 36779281 G A DCLK3 Synonymous SNV T290T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.074 112472 chr2 24522800 24522800 C T rs61757119 ITSN2 Nonsynonymous SNV R441K 0.016 0.01 0 6 19 4 0.015 0 0 0 0 0 22.1 112473 chr2 8871797 8871797 C A rs201478192 KIDINS220 Nonsynonymous SNV V1401F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 24.3 112474 chr21 42771176 42771176 T C rs2301803 MX2 Synonymous SNV V442V 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 0.554 112475 chr3 38153179 38153179 C T rs375454649 DLEC1 Nonsynonymous SNV P1155L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.84 112476 chr2 70124565 70124573 TTTGCCTCC - SNRNP27 A110_F112del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 112477 chr2 96781576 96781576 C T rs202241079 ADRA2B Nonsynonymous SNV A105T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 112478 chr14 31583537 31583537 G A HECTD1 Synonymous SNV Y1876Y 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.212 112479 chr2 88895179 88895179 T C rs138199678 EIF2AK3 Synonymous SNV V147V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.73 112480 chr2 97465379 97465379 C T rs144495984 CNNM4 Nonsynonymous SNV P648S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.853 112481 chr21 43543193 43543193 G A rs150611312 UMODL1 Nonsynonymous SNV S1083N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 25.8 112482 chr14 36158110 36158110 G C RALGAPA1 Nonsynonymous SNV N1122K 0 0 0 3 0 0 0.008 0 0 0 0 0 11.16 112483 chr21 43714693 43714693 C T ABCG1 Synonymous SNV L577L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.12 112484 chr2 178098783 178098783 G C NFE2L2 Nonsynonymous SNV P72A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.96 112485 chr2 179422745 179422745 A G TTN Synonymous SNV A20047A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.632 112486 chr14 38264515 38264515 C G rs567350419 TTC6 Nonsynonymous SNV A1266G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.3 112487 chr14 38723952 38723952 G C CLEC14A Nonsynonymous SNV H426D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.2 112488 chr2 99449372 99449372 G T KIAA1211L Synonymous SNV R110R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.67 112489 chr3 10334448 10334448 - A rs367917269 GHRLOS 0.003 0.005 0.024 3 4 2 0.008 7 0 0 0 0 112490 chr14 50100671 50100671 G A rs746701668 DNAAF2 Synonymous SNV G399G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Uncertain significance 6.873 112491 chr2 85097714 85097714 A C TRABD2A Nonsynonymous SNV C102G 0.006 0 0 3 7 0 0.008 0 0 0 0 0 23.7 112492 chr14 52505589 52505589 G A rs17853446 NID2 Synonymous SNV H711H 0.014 0.005 0.017 6 17 2 0.015 5 1 0 1 0 4.484 112493 chr2 86297186 86297186 C T rs76924572 POLR1A Synonymous SNV E607E 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Benign 15.01 112494 chr22 46835149 46835149 G A rs377649796 CELSR1 Nonsynonymous SNV P1448L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 112495 chr3 44935105 44935105 A G rs74776426 TGM4 Nonsynonymous SNV K156R 0.032 0.026 0.034 8 37 10 0.021 10 0 0 0 0 0.002 112496 chr2 183619775 183619775 A G rs369866299 DNAJC10 Nonsynonymous SNV N487D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.82 112497 chr3 44935109 44935109 G A rs34772357 TGM4 Synonymous SNV E157E 0.032 0.026 0.034 8 37 10 0.021 10 0 0 0 0 2.459 112498 chr3 44948491 44948491 A G rs17077022 TGM4 Nonsynonymous SNV I376V 0.029 0.023 0.034 7 34 9 0.018 10 0 0 0 0 0.006 112499 chr3 44974434 44974434 T C rs147965604 ZDHHC3 Nonsynonymous SNV H220R 0.028 0.023 0.031 6 33 9 0.015 9 0 0 0 0 0.005 112500 chr3 45160078 45160078 T A rs897292636 CDCP1 Nonsynonymous SNV I40F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 112501 chr3 45637765 45637765 A G rs114236922 LIMD1 Nonsynonymous SNV K465R 0.011 0.008 0.014 5 13 3 0.013 4 0 0 0 0 Benign 22.4 112502 chr14 61446162 61446162 C G rs367983869 TRMT5 Nonsynonymous SNV E180Q 0 0 0 4 0 0 0.01 0 0 0 0 0 13.12 112503 chr2 44021829 44021829 T C rs57240987 DYNC2LI1 Nonsynonymous SNV I185T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.404 112504 chr22 50941944 50941944 G A LMF2 Nonsynonymous SNV A642V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.054 112505 chr3 119263611 119263611 C T rs370099351 CD80 Synonymous SNV K68K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.438 112506 chr2 189932953 189932953 G A rs145850743 COL5A2 Nonsynonymous SNV T434M 0.009 0.01 0.007 1 10 4 0.003 2 0 0 0 0 Benign/Likely benign 23.8 112507 chr3 10417177 10417177 C T rs139459100 ATP2B2 Synonymous SNV L406L 0.007 0.005 0.014 1 8 2 0.003 4 0 0 0 0 Benign 12.75 112508 chr3 11606349 11606349 G A rs148854340 VGLL4 Synonymous SNV L53L 0.014 0.01 0 5 16 4 0.013 0 0 0 0 0 13.41 112509 chr2 53992593 53992593 A T rs2287339 ASB3, GPR75-ASB3 Synonymous SNV A77A 0.026 0.049 0.054 10 30 19 0.026 16 0 0 0 0 0.78 112510 chr3 10861501 10861501 C T rs61746357 SLC6A11 Synonymous SNV L166L 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 12.59 112511 chr3 121435829 121435829 T C rs777196584 GOLGB1 Nonsynonymous SNV H268R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 112512 chr3 48621383 48621383 G A rs778098950 COL7A1 Nonsynonymous SNV P1410S 0.01 0 0 1 12 0 0.003 0 0 0 0 0 12.8 112513 chr3 121251884 121251884 A C rs61757736 POLQ Nonsynonymous SNV S305A 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 16.1 112514 chr2 102965608 102965608 G A rs138892317 IL1RL1 Nonsynonymous SNV R396H 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 5.807 112515 chr2 55825844 55825844 A G rs79146946 PPP4R3B Nonsynonymous SNV F210S 0.003 0 0 0 4 0 0 0 0 0 0 0 27.4 112516 chr3 122289470 122289470 A G DTX3L Nonsynonymous SNV T702A 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 27.6 112517 chr3 122134032 122134032 C T rs61736421 WDR5B Nonsynonymous SNV G115E 0.003 0.008 0 0 4 3 0 0 0 0 0 0 26.7 112518 chr3 49691838 49691838 C T rs146695509 BSN Nonsynonymous SNV R1617W 0.009 0.005 0 0 10 2 0 0 0 0 0 0 13.95 112519 chr3 12421360 12421360 C T rs112174008 PPARG Synonymous SNV D52D 0.003 0 0.003 0 4 0 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 9.528 112520 chr3 113327029 113327029 C T rs146992283 SIDT1 Nonsynonymous SNV R461W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 112521 chr3 50388904 50388904 G C rs997992222 CYB561D2 Nonsynonymous SNV A14P 0.009 0 0 1 10 0 0.003 0 0 0 0 0 11.99 112522 chr3 50684208 50684208 C T MAPKAPK3 Synonymous SNV P289P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.91 112523 chr11 62415571 62415571 G A rs78461796 INTS5 Synonymous SNV L661L 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 1.113 112524 chr3 124351442 124351442 T C rs372258786 KALRN Synonymous SNV D87D 0.006 0.01 0 0 7 4 0 0 0 0 0 0 0.443 112525 chr11 62849111 62849111 G C rs140872207 SLC22A24 Nonsynonymous SNV A438G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.2 112526 chr2 207162033 207162033 A G rs116382753 ZDBF2 Nonsynonymous SNV S42G 0.034 0.036 0.024 8 40 14 0.021 7 1 1 0 1 15.87 112527 chr2 11332408 11332408 C A rs2230775 ROCK2 Synonymous SNV R1257R 0.008 0.005 0.014 2 9 2 0.005 4 0 0 0 0 12.37 112528 chr11 62984811 62984811 A G rs112088940 SLC22A25 Nonsynonymous SNV C269R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.017 112529 chr11 62996038 62996038 T C rs1783657 SLC22A25 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 23.1 112530 chr11 62996774 62996774 - A rs112260121 SLC22A25 Frameshift insertion D118Gfs*6 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 112531 chr11 63064782 63064782 C T rs111381363 SLC22A10 Stop gain R172X 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 35 112532 chr11 63064845 63064845 G A rs113851643 SLC22A10 Nonsynonymous SNV A193T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.9 112533 chr11 63069947 63069947 G A rs111953413 SLC22A10 Nonsynonymous SNV R406Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.8 112534 chr11 63071595 63071595 G A rs112720090 SLC22A10 Nonsynonymous SNV R434H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 112535 chr11 63072327 63072327 C T rs112597909 SLC22A10 Nonsynonymous SNV P522S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24 112536 chr11 63078479 63078479 A - rs562147200 SLC22A10 N536Ifs*18 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 112537 chr11 63137769 63137769 T C rs112075331 SLC22A9 Nonsynonymous SNV S81P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.331 112538 chr3 127702961 127702961 A G rs190687915 KBTBD12 Nonsynonymous SNV K571R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 27.5 112539 chr3 126185092 126185092 C T rs139749960 ZXDC Synonymous SNV P449P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.87 112540 chr2 208988920 208988920 G C rs202233735 CRYGD Stop gain Y56X 0.009 0.01 0.007 2 10 4 0.005 2 0 0 0 0 Benign/Likely benign 36 112541 chr3 121340955 121340955 G A rs148776238 FBXO40 Nonsynonymous SNV A227T 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 13.2 112542 chr2 119727793 119727793 C G rs41279766 MARCO Nonsynonymous SNV H101Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 112543 chr3 128711946 128711946 C A rs115301439 KIAA1257 Nonsynonymous SNV D68Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 112544 chr11 64003467 64003467 C G rs111555072 VEGFB Nonsynonymous SNV Q96E 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 23.2 112545 chr3 128722835 128722835 G C EFCC1 Nonsynonymous SNV V299L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.6 112546 chr11 64132904 64132904 C T rs139579817 RPS6KA4 Synonymous SNV G346G 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 11.99 112547 chr11 64525266 64525266 C T rs116315896 PYGM Synonymous SNV K127K 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.81 112548 chr22 31091305 31091305 C T rs79856312 OSBP2 Nonsynonymous SNV L137F 0.013 0.008 0.007 1 15 3 0.003 2 0 0 0 0 Benign 2.141 112549 chr22 31266513 31266513 C T OSBP2 Synonymous SNV S59S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.93 112550 chr3 56667480 56667480 C T rs3732514 TASOR Synonymous SNV S676S 0.01 0.01 0.01 1 12 4 0.003 3 0 0 0 0 8.541 112551 chr11 64669560 64669560 C A rs755919249 ATG2A Synonymous SNV G1323G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.85 112552 chr11 64940414 64940414 C G rs762771817 SPDYC Nonsynonymous SNV A259G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 112553 chr3 62180792 62180792 C T rs61754215 PTPRG Synonymous SNV A425A 0.016 0.021 0.017 9 19 8 0.023 5 0 0 0 1 20.2 112554 chr3 130381104 130381104 C T rs201076895 COL6A6 Nonsynonymous SNV H2152Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.23 112555 chr3 124492557 124492557 C T rs375099484 ITGB5 Synonymous SNV P479P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 112556 chr2 88826008 88826008 C T rs373830617 TEX37 Nonsynonymous SNV P38L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.04 112557 chr3 130735007 130735007 G A ASTE1, ATP2C1 Stop gain W917X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 43 112558 chr3 64547178 64547178 T C rs17071048 ADAMTS9-AS1 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 2.346 112559 chr11 65147013 65147013 C T rs78829599 SLC25A45 Nonsynonymous SNV G34E 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 32 112560 chr2 9593064 9593064 A G rs1128215 CPSF3 Nonsynonymous SNV K436R 0.015 0.005 0.01 1 18 2 0.003 3 0 0 0 0 16.45 112561 chr11 65266169 65266169 A G rs619586 MALAT1 0 0 0.037 0 0 0 0 11 0 0 0 0 0.41 112562 chr11 65269349 65269349 C G rs664589 MALAT1, TALAM1 0 0 0.034 0 0 0 0 10 0 0 0 0 7.727 112563 chr2 96689084 96689084 G A rs113262512 GPAT2 Synonymous SNV F602F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.455 112564 chr11 65305309 65305309 G T rs56076708 SCYL1 Nonsynonymous SNV Q646H 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign/Likely benign 11.57 112565 chr2 96919698 96919698 G A rs146965678 TMEM127 Synonymous SNV L189L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 7.807 112566 chr3 108219046 108219046 C T rs182324086 MYH15 Nonsynonymous SNV A159T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 112567 chr2 96993745 96993745 G A rs141148427 ITPRIPL1 Nonsynonymous SNV R467Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.347 112568 chr3 125249371 125249371 T C rs111266700 OSBPL11 Synonymous SNV Q744Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.03 112569 chr3 108677910 108677910 C T rs78212601 MORC1 Nonsynonymous SNV E953K 0.007 0.013 0.003 7 8 5 0.018 1 0 0 0 0 28.6 112570 chr14 94245605 94245605 C T rs745490663 PRIMA1 Nonsynonymous SNV R49Q 0.003 0 0 6 4 0 0.015 0 0 0 0 0 Uncertain significance 15.4 112571 chr11 65386404 65386404 A C rs200692281 PCNX3 Nonsynonymous SNV E524A 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 22.5 112572 chr2 98737884 98737884 G A rs144102300 VWA3B Nonsynonymous SNV R222H 0.02 0.026 0.003 6 24 10 0.015 1 0 0 0 0 Benign 6.34 112573 chr2 145156613 145156613 G A rs112581563 ZEB2 Nonsynonymous SNV P690L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 16.23 112574 chr14 94780642 94780642 A T rs113418909 SERPINA6 Nonsynonymous SNV L115H 0.006 0 0.007 7 7 0 0.018 2 0 0 0 0 Uncertain significance 23.1 112575 chr3 140409919 140409919 G A rs115301879 TRIM42 Nonsynonymous SNV R657Q 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 19.67 112576 chr22 41574684 41574684 C G rs111489369 EP300 Synonymous SNV P2297P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 5.659 112577 chr2 152369293 152369293 G A NEB Nonsynonymous SNV T6066I 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 112578 chr3 142985637 142985637 C A SLC9A9 Synonymous SNV T615T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 112579 chr3 107096877 107096877 C T rs150994095 CCDC54 Nonsynonymous SNV S148F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 10.86 112580 chr3 99890707 99890707 C T rs566817716 CMSS1 Synonymous SNV D163D 0.006 0 0 0 7 0 0 0 0 0 0 0 16.69 112581 chr2 152484151 152484151 C G rs183321773 NEB Nonsynonymous SNV K3100N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 112582 chr2 152525604 152525604 A G rs748479655 NEB Synonymous SNV Y1516Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.942 112583 chr3 141162021 141162021 G A rs530749887 ZBTB38 Nonsynonymous SNV R264Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23 112584 chr3 113374409 113374409 G A rs74980526 USF3 Synonymous SNV F2040F 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 5.953 112585 chr3 113376113 113376113 - TGCTGC USF3 Q1478_A1479insQQ 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 112586 chr11 6640618 6640618 G T rs138976576 TPP1 Nonsynonymous SNV A5D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.34 112587 chr3 14190078 14190078 C T rs200148127 XPC Nonsynonymous SNV G609S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 not provided 35 112588 chr11 6661352 6661352 C T rs150834672 DCHS1 Nonsynonymous SNV R498Q 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Uncertain significance 21.5 112589 chr3 150128399 150128399 C T rs762967438 TSC22D2 Nonsynonymous SNV S421L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 112590 chr3 149093323 149093323 C T TM4SF1 Nonsynonymous SNV C107Y 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 33 112591 chr3 151598433 151598433 C T rs145165680 SUCNR1 Synonymous SNV F34F 0.007 0.003 0 0 8 1 0 0 0 0 0 0 16.41 112592 chr11 67400514 67400514 G A rs200918283 TBX10 Nonsynonymous SNV R204C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 112593 chr3 132337477 132337477 C A rs41272317 ACAD11 0.013 0.026 0.024 4 15 10 0.01 7 0 0 0 0 27.1 112594 chr3 112299710 112299710 A G rs142107337 SLC35A5 Nonsynonymous SNV Y131C 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 25.2 112595 chr3 132409455 132409455 C T rs16839515 NPHP3 Synonymous SNV P870P 0.017 0.026 0.024 4 20 10 0.01 7 0 0 0 0 Benign 14.63 112596 chr3 150404142 150404142 C T rs143235660 ERICH6 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.29 112597 chr11 67818238 67818238 C T rs150788130 TCIRG1 Synonymous SNV G599G 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.43 112598 chr2 161223877 161223877 A T RBMS1 Nonsynonymous SNV M34K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.2 112599 chr11 68191036 68191036 G A rs61889560 LRP5 Nonsynonymous SNV R455Q 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 112600 chr14 104501368 104501368 T C TDRD9 Synonymous SNV L1231L 0.006 0 0 3 7 0 0.008 0 0 0 0 0 0.032 112601 chr14 104570766 104570766 C T rs200339005 ASPG Synonymous SNV I293I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.21 112602 chr14 104640120 104640120 G A rs199821247 KIF26A Nonsynonymous SNV A649T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.013 112603 chr11 68773317 68773317 C G rs201868258 MRGPRF Nonsynonymous SNV R154P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 112604 chr2 166611449 166611449 G T rs1014664640 GALNT3 Nonsynonymous SNV S506Y 0.002 0 0 0 2 0 0 0 0 0 0 0 15.26 112605 chr11 69957846 69957846 C T rs371652411 ANO1 Nonsynonymous SNV A278V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 112606 chr3 159482621 159482621 C T rs767253807 IQCJ-SCHIP1, SCHIP1 Synonymous SNV N151N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.154 112607 chr3 167747045 167747045 T A rs760479789 GOLIM4 Synonymous SNV G465G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 112608 chr3 160243743 160243743 T C rs748061946 KPNA4 Nonsynonymous SNV M237V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 112609 chr3 169540704 169540704 G A LRRIQ4 Nonsynonymous SNV G332E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 112610 chr2 168104187 168104187 T C XIRP2 Synonymous SNV T1873T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.228 112611 chr11 71726212 71726212 C T rs3750912 NUMA1 Synonymous SNV Q779Q 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 2.128 112612 chr11 72423246 72423246 C T rs149772953 ARAP1 Synonymous SNV P94P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.06 112613 chr2 169746011 169746011 C T rs756310910 SPC25 Nonsynonymous SNV A7T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 112614 chr3 142539818 142539818 T C rs149359479 PCOLCE2 Nonsynonymous SNV N340S 0.004 0.01 0 0 5 4 0 0 0 0 0 0 13.14 112615 chr22 50703389 50703389 C G MAPK11 Nonsynonymous SNV E361D 0.003 0 0 0 3 0 0 0 0 0 0 0 13.02 112616 chr11 74109136 74109136 T A rs755039764 PGM2L1 Nonsynonymous SNV Q24L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 112617 chr3 172835392 172835392 A T rs146572379 SPATA16 Nonsynonymous SNV S44T 0.003 0.021 0.014 3 3 8 0.008 4 0 0 0 0 Benign 0.001 112618 chr15 31197976 31197976 C T rs114136100 FAN1 Synonymous SNV T370T 0.016 0.018 0.014 6 19 7 0.015 4 1 0 0 0 10.11 112619 chr15 31202961 31202961 G A rs150393409 FAN1 Nonsynonymous SNV R507H 0.01 0.013 0 4 12 5 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 112620 chr11 75316876 75316876 G A rs761696755 MAP6 Synonymous SNV N431N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 112621 chr11 76371111 76371111 T C rs770770405 LRRC32 Nonsynonymous SNV D399G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 112622 chr22 51178125 51178125 T C rs749387749 ACR Synonymous SNV N95N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.743 112623 chr3 184294779 184294779 G A rs200601511 EPHB3 Nonsynonymous SNV A388T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 112624 chr3 123038602 123038602 G A rs145393380 ADCY5 Synonymous SNV D375D 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 12 112625 chr3 183860063 183860063 G A rs138857267 EIF2B5 Synonymous SNV S447S 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 Benign/Likely benign 9.472 112626 chr3 124281863 124281863 C T KALRN Synonymous SNV V1701V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 16.75 112627 chr3 183906770 183906770 C G ABCF3 Nonsynonymous SNV P318R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.9 112628 chr11 77934700 77934700 C T rs202165383 GAB2 Nonsynonymous SNV R404Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 112629 chr3 157081352 157081352 A T rs139246642 VEPH1 Nonsynonymous SNV N512K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.53 112630 chr3 157081353 157081353 T A rs145377938 VEPH1 Nonsynonymous SNV N512I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 16.01 112631 chr15 40751725 40751725 G A rs145339527 BAHD1 Synonymous SNV P354P 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 6.936 112632 chr3 187416713 187416713 G T rs143671992 RTP2 Nonsynonymous SNV A84E 0.004 0 0 5 5 0 0.013 0 0 0 0 0 0.001 112633 chr4 147824857 147824859 TTA - TTC29 N142del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 112634 chr3 158384463 158384463 C T rs34058260 LXN Nonsynonymous SNV R214H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Likely benign 27 112635 chr3 188426084 188426084 G A rs149905073 LPP Synonymous SNV S234S 0.007 0 0.014 4 8 0 0.01 4 0 0 1 0 Benign 7.585 112636 chr3 160803565 160803565 G A rs777953835 B3GALNT1 Synonymous SNV N326N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.306 112637 chr2 179478597 179478597 C A rs202094100 TTN Nonsynonymous SNV W7406C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 112638 chr3 167320010 167320010 T C rs75218075 WDR49 Nonsynonymous SNV K53E 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 28.6 112639 chr3 167345074 167345074 G C rs77319753 WDR49 Nonsynonymous SNV Q58E 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 8.273 112640 chr3 188426104 188426104 G A rs371075090 LPP Nonsynonymous SNV R241H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 23.7 112641 chr3 142274770 142274770 T C rs77208665 ATR Nonsynonymous SNV K700E 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 112642 chr3 172224328 172224328 T C TNFSF10 Nonsynonymous SNV D267G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 112643 chr2 113999601 113999601 C T PAX8 Synonymous SNV K195K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.4 112644 chr3 142772575 142772575 T C rs373100084 U2SURP Synonymous SNV L496L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.668 112645 chr3 196159274 196159274 - CCG rs549119450 UBXN7-AS1 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 112646 chr15 45398750 45398750 C T rs139161034 DUOX2 Nonsynonymous SNV E641K 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.55 112647 chr15 45464170 45464170 G A rs115581428 SHF Nonsynonymous SNV R350C 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 10.81 112648 chr11 93454831 93454831 - GTGT rs745920101 SCARNA9 0 0 0.01 0 0 0 0 3 0 0 0 0 112649 chr3 197428634 197428634 A C RUBCN Nonsynonymous SNV H164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 112650 chr2 125504906 125504906 C T rs35749633 CNTNAP5 Synonymous SNV D726D 0.011 0.01 0.003 6 13 4 0.015 1 0 0 0 0 10.58 112651 chr3 195594957 195594957 C T rs565563192 TNK2 Nonsynonymous SNV G755S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.136 112652 chr3 27472825 27472825 C T rs145052230 SLC4A7 Nonsynonymous SNV E372K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 112653 chr11 9875149 9875149 T C rs753921188 SBF2 Nonsynonymous SNV K825R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Uncertain significance 23.3 112654 chr4 177146444 177146444 C T rs139180399 ASB5 Nonsynonymous SNV R82H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 112655 chr12 100934590 100934590 A C rs149287629 NR1H4 Nonsynonymous SNV N364H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.62 112656 chr2 28117455 28117455 C G rs144572761 BABAM2 Nonsynonymous SNV S11C 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 24.8 112657 chr3 137843333 137843333 G A rs113881039 A4GNT Stop gain R266X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 35 112658 chr4 178360811 178360811 G T rs76491548 AGA Nonsynonymous SNV L105I 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Benign/Likely benign 32 112659 chr3 140167490 140167490 T A rs41265459 CLSTN2 Nonsynonymous SNV I306N 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Likely benign 29.5 112660 chr3 20225127 20225127 T G rs369840848 SGO1 Synonymous SNV T104T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.059 112661 chr4 183267886 183267886 C T rs144353515 TENM3 Synonymous SNV L105L 0.01 0.013 0.014 6 12 5 0.015 4 0 0 0 0 Benign 12.51 112662 chr4 183609367 183609367 C T rs189502887 TENM3 Nonsynonymous SNV T695M 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 24 112663 chr2 196852767 196852767 C T rs146788086 DNAH7 Nonsynonymous SNV A514T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 4.882 112664 chr3 33093405 33093405 T C rs76016860 GLB1 Nonsynonymous SNV D164G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.1 112665 chr3 33134330 33134330 G C rs201819454 TMPPE Nonsynonymous SNV P453R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 112666 chr2 198274573 198274573 G A rs142459386 SF3B1 Synonymous SNV G275G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.649 112667 chr3 142741383 142741383 G A rs753367045 U2SURP Synonymous SNV P299P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.08 112668 chr2 200137201 200137201 G A rs183727190 SATB2 Synonymous SNV I645I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.46 112669 chr3 31725304 31725304 C A rs373301817 OSBPL10 Nonsynonymous SNV M452I 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.005 112670 chr4 186353135 186353135 G T rs199811696 C4orf47 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.7 112671 chr4 186379955 186379955 G T rs34739951 CCDC110 Nonsynonymous SNV L559I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 15.74 112672 chr2 148695747 148695747 C T rs138876526 ORC4 Nonsynonymous SNV V280I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.14 112673 chr2 32289076 32289076 T C rs931354945 SPAST Nonsynonymous SNV V59A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.401 112674 chr2 202025665 202025665 - AAAACGCCCACTCCTGGATCTTCACATTGAACTCAATGGCTACATGTATGATTGGAACAGCAGA CFLAR Frameshift insertion V212Kfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 112675 chr15 58253409 58253409 G A rs768636227 ALDH1A2 Synonymous SNV L349L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.76 112676 chr15 59911202 59911202 G A rs35655456 GCNT3 Synonymous SNV E255E 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 0.009 112677 chr15 60741088 60741088 G A ICE2 Nonsynonymous SNV P556L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.52 112678 chr15 60758839 60758839 G A rs148143223 ICE2 Nonsynonymous SNV A24V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 30 112679 chr12 108145250 108145250 T C PRDM4 Synonymous SNV S356S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.612 112680 chr2 203974985 203974985 A G rs760010055 NBEAL1 Nonsynonymous SNV S659G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.39 112681 chr12 108913027 108913027 G A rs73402740 FICD Synonymous SNV A384A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.96 112682 chr2 3673680 3673680 A G rs112274120 COLEC11 Nonsynonymous SNV Q64R 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 2.123 112683 chr3 194152452 194152452 G A ATP13A3 Synonymous SNV D805D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.633 112684 chr2 3685175 3685175 T C rs17017791 COLEC11 Synonymous SNV I35I 0.002 0.008 0.017 0 2 3 0 5 0 0 0 0 3.584 112685 chr2 3691071 3691071 C T rs34436491 COLEC11 Synonymous SNV I48I 0.002 0.008 0.017 0 2 3 0 5 0 0 0 0 Benign 14.17 112686 chr2 37366867 37366867 T A rs748669301 EIF2AK2 Nonsynonymous SNV E141D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.656 112687 chr2 153493057 153493059 AAT - rs563346055 FMNL2 N933del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 112688 chr3 38141909 38141909 G A rs749963574 DLEC1 Nonsynonymous SNV A953T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.986 112689 chr15 65321936 65321936 G A rs199599204 MTFMT Nonsynonymous SNV R6W 0.009 0.013 0.01 3 11 5 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 112690 chr4 2451467 2451467 G A rs202084436 CFAP99 Nonsynonymous SNV R238Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.804 112691 chr3 38420809 38420809 G C XYLB Nonsynonymous SNV A286P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 29 112692 chr12 110389122 110389122 C A GIT2 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 112693 chr3 195594582 195594582 C T rs751345683 TNK2 Nonsynonymous SNV V880I 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 10.39 112694 chr3 42251732 42251732 G A rs374428098 TRAK1 Nonsynonymous SNV A666T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.61 112695 chr3 195785465 195785465 G C rs149825223 TFRC Nonsynonymous SNV D243E 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 22.9 112696 chr3 3888101 3888101 T C rs35191979 LRRN1 Synonymous SNV Y592Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.015 112697 chr15 66386798 66386798 G A rs17819714 MEGF11 Synonymous SNV C112C 0.023 0.021 0.007 6 27 8 0.015 2 1 0 0 0 13.59 112698 chr2 208631946 208631946 C T rs766463185 FZD5 Synonymous SNV K506K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.77 112699 chr3 16399552 16399552 A T rs771276133 RFTN1 Nonsynonymous SNV S345T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 22.8 112700 chr15 66857050 66857050 C T rs115163164 LCTL Synonymous SNV T82T 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 10.05 112701 chr3 196304581 196304581 T C FBXO45 Synonymous SNV D192D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.355 112702 chr3 167083684 167083684 T - rs771621323 ZBBX N88Mfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 112703 chr2 163080121 163080121 T G rs373002642 FAP Nonsynonymous SNV N112T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.89 112704 chr12 113424899 113424899 C T rs141972778 OAS2 Synonymous SNV V78V 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 11.27 112705 chr2 164467498 164467498 G A FIGN Nonsynonymous SNV P271S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 112706 chr2 165551597 165551597 T G rs201545061 COBLL1 Nonsynonymous SNV T769P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 6.731 112707 chr2 165552222 165552222 C T rs116305649 COBLL1 Synonymous SNV E560E 0.017 0.026 0.014 7 20 10 0.018 4 0 0 0 0 5.937 112708 chr2 165552286 165552286 A G rs761837679 COBLL1 Nonsynonymous SNV V539A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.002 112709 chr3 172224615 172224615 A G rs56119116 TNFSF10 Synonymous SNV N171N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.751 112710 chr2 167151217 167151217 T C rs201240577 SCN1A-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.555 112711 chr3 179096422 179096422 A G rs758761515 MFN1 Synonymous SNV T494T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.562 112712 chr12 118469068 118469068 T C rs767069950 RFC5 Synonymous SNV I333I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.83 112713 chr3 3182300 3182300 G A rs1012537748 TRNT1 Nonsynonymous SNV R150H 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Uncertain significance 34 112714 chr15 75090647 75090647 A G rs769095776 CSK Synonymous SNV A3A 0.002 0 0 7 2 0 0.018 0 0 0 0 0 12.1 112715 chr2 56411780 56411780 C G CCDC85A Synonymous SNV G7G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 19.72 112716 chr4 42127653 42127653 G A BEND4 Synonymous SNV L365L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.14 112717 chr3 38045777 38045777 C T rs199511365 VILL Stop gain R410X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 112718 chr3 38156484 38156484 C T DLEC1 Stop gain Q1269X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 40 112719 chr2 219130802 219130802 T C rs2305835 AAMP Nonsynonymous SNV I250V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.453 112720 chr2 173427529 173427529 G A rs774617802 PDK1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.152 112721 chr12 122763598 122763598 C T rs368279544 CLIP1 Nonsynonymous SNV E1202K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 112722 chr2 219503278 219503278 G A rs556339609 ZNF142 Synonymous SNV T1616T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.59 112723 chr12 123351963 123351963 G A rs765717985 VPS37B Synonymous SNV T186T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.203 112724 chr2 219617619 219617619 G A rs376660525 TTLL4 Nonsynonymous SNV R1037H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 112725 chr4 4864576 4864576 C T rs201419918 MSX1 Synonymous SNV S206S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.25 112726 chr3 48265036 48265036 G A rs147132139 CAMP Nonsynonymous SNV R12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 112727 chr3 48265924 48265924 A G rs112279864 CAMP Synonymous SNV P94P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.018 112728 chr3 48369830 48369830 A G rs145745436 SPINK8 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 112729 chr12 124858974 124858974 C G rs371284044 NCOR2 Nonsynonymous SNV E735Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.8 112730 chr3 4842123 4842123 C T ITPR1 Nonsynonymous SNV H2253Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 112731 chr3 48461139 48461139 C T rs150371746 PLXNB1 Synonymous SNV A852A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.59 112732 chr12 125292413 125292413 G A rs5892 SCARB1 Synonymous SNV F301F 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 16.27 112733 chr3 48461530 48461530 G A rs75665465 PLXNB1 Nonsynonymous SNV S722L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.056 112734 chr3 48465922 48465922 C A rs141235519 PLXNB1 Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.32 112735 chr3 48509036 48509036 T C rs3135946 ATRIP-TREX1 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 1.331 112736 chr3 48600230 48600230 C T rs138367529 UCN2 Nonsynonymous SNV G110S 0.004 0 0 0 5 0 0 0 0 0 0 0 26.8 112737 chr15 83332357 83332357 T A rs747781935 AP3B2 Nonsynonymous SNV S767C 0 0 0 3 0 0 0.008 0 0 0 0 0 18.5 112738 chr3 49050624 49050624 G A rs199839135 WDR6 Nonsynonymous SNV A527T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 112739 chr3 49145895 49145895 G T rs200833787 USP19 Nonsynonymous SNV P1253T 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 15.98 112740 chr4 5795352 5795352 T C EVC Synonymous SNV C598C 0.004 0 0 0 5 0 0 0 0 0 0 0 1.02 112741 chr4 5894387 5894387 C G CRMP1 Nonsynonymous SNV E104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 112742 chr3 49455103 49455103 G A rs757293245 AMT Nonsynonymous SNV A317V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 28.2 112743 chr3 193036894 193036894 G A rs74371245 ATP13A5 Nonsynonymous SNV P640L 0.005 0 0.007 0 6 0 0 2 0 0 0 0 28.3 112744 chr3 49459578 49459578 G A rs386833679 AMT Nonsynonymous SNV R73C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Pathogenic/Likely pathogenic 29.8 112745 chr2 223086026 223086026 G A rs141545923 PAX3 Synonymous SNV P290P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 10.59 112746 chr2 74692286 74692286 C T MOGS Nonsynonymous SNV R30Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 112747 chr3 49847440 49847440 A G rs199938849 UBA7 Nonsynonymous SNV F604L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 112748 chr2 75874015 75874015 C G rs11552948 MRPL19 Nonsynonymous SNV P28A 0.022 0.01 0.014 1 26 4 0.003 4 0 0 0 0 0.001 112749 chr3 50225389 50225389 G T rs140809943 SEMA3F Synonymous SNV L634L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.99 112750 chr15 89414741 89414741 G A rs150555123 ACAN Nonsynonymous SNV V2321I 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.61 112751 chr3 195965760 195965760 A G rs116712058 PCYT1A Synonymous SNV H301H 0.017 0.018 0.027 7 20 7 0.018 8 0 0 0 0 0.003 112752 chr2 186670575 186670575 G C rs184298485 FSIP2 Synonymous SNV V5514V 0.007 0.008 0.014 4 8 3 0.01 4 0 0 0 0 1.322 112753 chr15 89422481 89422481 C T rs146976207 HAPLN3 Synonymous SNV Q171Q 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 10.53 112754 chr3 46727819 46727819 G A rs150523702 ALS2CL Synonymous SNV H215H 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 1.644 112755 chr3 52469801 52469801 C A SEMA3G Nonsynonymous SNV D723Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 112756 chr4 74124266 74124266 G A rs922531483 ANKRD17 Synonymous SNV G40G 0.009 0.005 0 0 11 2 0 0 0 0 0 0 12.54 112757 chr2 189904234 189904234 G C rs62184175 COL5A2 Nonsynonymous SNV T1230R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 21.6 112758 chr12 2113565 2113565 T C DCP1B Synonymous SNV G11G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.167 112759 chr3 47969734 47969734 G A rs20565 MAP4 Synonymous SNV V133V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.78 112760 chr4 76529004 76529004 T A rs559223167 CDKL2 Synonymous SNV A264A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 112761 chr15 90997745 90997745 G A rs147346534 IQGAP1 Nonsynonymous SNV V525M 0 0 0 3 0 0 0.008 0 0 0 0 0 24.6 112762 chr2 234681170 234681170 C T rs770564267 UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Stop gain R523X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 37 112763 chr2 196729216 196729216 G A rs372788044 DNAH7 Nonsynonymous SNV A2388V 0.003 0 0 0 4 0 0 0 0 0 0 0 19.36 112764 chr3 32746344 32746344 A G rs201589505 CNOT10 Synonymous SNV L53L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.988 112765 chr12 29640680 29640680 T C rs940387360 OVCH1 Nonsynonymous SNV I280V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.433 112766 chr3 49848255 49848255 C T rs2234380 UBA7 Nonsynonymous SNV R414H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 112767 chr3 57132347 57132347 G A rs775773650 IL17RD Nonsynonymous SNV R462C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.9 112768 chr2 202141635 202141635 A G CASP8 Nonsynonymous SNV E234G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 112769 chr3 100972610 100972610 C T rs139255481 IMPG2 Nonsynonymous SNV R390H 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 112770 chr3 58107170 58107170 A C FLNB Synonymous SNV G1022G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.431 112771 chr3 58380777 58380777 T C PXK Nonsynonymous SNV L86S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 112772 chr12 31576582 31576582 T C rs537317490 DENND5B Nonsynonymous SNV I807V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 112773 chr15 99512707 99512707 G A rs767545569 PGPEP1L Synonymous SNV C106C 0 0 0 2 0 0 0.005 0 0 0 0 0 3.868 112774 chr2 202593836 202593836 C T rs371408833 ALS2 Nonsynonymous SNV R884K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 112775 chr3 50602964 50602964 G A rs559763162 C3orf18 Nonsynonymous SNV T56M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 112776 chr2 239039817 239039817 G A rs544504029 ESPNL Nonsynonymous SNV R453Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 112777 chr3 59738007 59738007 C G rs763131516 FHIT Nonsynonymous SNV R74T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 112778 chr4 8229381 8229381 C T rs143156603 SH3TC1 Nonsynonymous SNV R578W 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.21 112779 chr3 51680429 51680429 G A rs373053017 RAD54L2 Synonymous SNV S986S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.26 112780 chr3 39126204 39126204 C T rs764178263 WDR48 Synonymous SNV F368F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.08 112781 chr3 65464467 65464467 T G rs61746260 MAGI1 Nonsynonymous SNV Y186S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 29.3 112782 chr2 241808308 241808308 C A rs115014558 AGXT Nonsynonymous SNV T9N 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 Benign/Likely benign 8.184 112783 chr12 45001014 45001014 G C rs188047802 NELL2 Nonsynonymous SNV A534G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 112784 chr3 111718446 111718446 G C rs35978996 TAGLN3 Synonymous SNV G59G 0.012 0.026 0.003 4 14 10 0.01 1 0 0 0 1 10.9 112785 chr16 129654 129654 C T rs710081 MPG Synonymous SNV F85F 0.024 0.016 0.024 11 28 6 0.028 7 0 0 1 0 8.557 112786 chr4 8607838 8607838 C A CPZ Nonsynonymous SNV R267S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 112787 chr4 862340 862340 C A rs115244803 GAK Synonymous SNV T715T 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 15.76 112788 chr2 20870992 20870992 G T rs750212557 GDF7 Nonsynonymous SNV R387L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 112789 chr3 42729754 42729754 G A rs138791086 KLHL40 Nonsynonymous SNV G425S 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Likely benign 19.13 112790 chr12 4848336 4848336 C T rs34806567 GALNT8 Nonsynonymous SNV R173W 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 20.2 112791 chr3 112546473 112546473 G T CD200R1L Synonymous SNV I57I 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 4.703 112792 chr4 89708976 89708976 G A FAM13A Nonsynonymous SNV S46F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 112793 chr3 96706636 96706636 G A rs200518665 EPHA6 Nonsynonymous SNV V305I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.91 112794 chr12 49237806 49237806 T C rs141155505 DDX23 Synonymous SNV R79R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 7.65 112795 chr3 97594253 97594253 A G rs143623948 CRYBG3 Synonymous SNV L1405L 0.007 0.01 0 0 8 4 0 0 0 0 0 0 12.27 112796 chr16 726376 726376 C G rs146745951 RHBDL1 Nonsynonymous SNV T92S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.091 112797 chr16 735435 735435 A G rs148107854 WDR24 Nonsynonymous SNV F614S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 23 112798 chr3 44938241 44938241 - G rs771776964 TGM4 Stop gain E198* 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 112799 chr3 44938242 44938242 T C rs750622582 TGM4 Synonymous SNV T197T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.03 112800 chr4 983280 983280 G A SLC26A1 Synonymous SNV L483L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 112801 chr16 765668 765668 G A rs763552963 METRN Synonymous SNV G63G 0.002 0 0 4 2 0 0.01 0 0 0 0 0 5.207 112802 chr12 50304573 50304573 C A rs74089088 LINC02396 0 0 0.051 0 0 0 0 15 0 0 0 0 4.533 112803 chr3 99513495 99513495 G A rs138724036 COL8A1 Synonymous SNV A250A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 112804 chr2 218940334 218940334 G A rs753402472 RUFY4 Synonymous SNV E373E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 112805 chr2 27600829 27600829 C G rs767264817 ZNF513 Synonymous SNV L341L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.682 112806 chr2 219141798 219141798 G A TMBIM1 Nonsynonymous SNV L111F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 112807 chr2 27676945 27676945 T C rs768132019 IFT172 Synonymous SNV G1205G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.757 112808 chr2 219146906 219146906 T G rs757128573 TMBIM1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 112809 chr3 46023116 46023116 C T rs558777911 FYCO1 Synonymous SNV T36T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 17.24 112810 chr3 46245786 46245786 T C CCR1 Nonsynonymous SNV T7A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 112811 chr5 11084010 11084010 C G rs767773647 CTNND2 Nonsynonymous SNV A562P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.89 112812 chr3 47033970 47033970 C T rs201015016 NBEAL2 Synonymous SNV Y346Y 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 10.49 112813 chr16 1395284 1395284 G A rs116719702 BAIAP3 Nonsynonymous SNV A623T 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.008 112814 chr12 52647439 52647439 G A rs755028748 KRT87P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.091 112815 chr3 9730390 9730390 T C rs760874656 MTMR14 Synonymous SNV L416L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.683 112816 chr12 52827606 52827606 G A rs140482609 KRT75 Synonymous SNV A161A 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 8.297 112817 chr5 112770309 112770309 G A TSSK1B Synonymous SNV Y76Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 112818 chr3 48627789 48627789 C A rs116005007 COL7A1 Nonsynonymous SNV G636V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 112819 chr5 114916493 114916493 T C rs774241097 TICAM2, TMED7-TICAM2 Nonsynonymous SNV Y154C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.6 112820 chr3 49067926 49067926 G T QRICH1 Nonsynonymous SNV Q764K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.8 112821 chr16 1962141 1962141 G A rs200566367 HS3ST6 Nonsynonymous SNV T160M 0.005 0.005 0.003 8 6 2 0.021 1 0 0 0 0 26.8 112822 chr3 51864789 51864789 A G rs1000359119 IQCF3 Nonsynonymous SNV E146G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.5 112823 chr3 52248181 52248181 A G rs763836205 ALAS1 Synonymous SNV V636V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.84 112824 chr2 42522533 42522533 C G EML4 Nonsynonymous SNV P398A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 112825 chr2 42671125 42671125 C T rs754970614 KCNG3 Synonymous SNV K420K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.36 112826 chr3 52519795 52519795 C T rs145370808 NISCH Nonsynonymous SNV A552V 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Benign 5.197 112827 chr16 3142883 3142883 T C ZSCAN10 Nonsynonymous SNV K19R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 6.495 112828 chr3 52822360 52822360 A G rs773761422 ITIH1 Synonymous SNV T418T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.92 112829 chr12 53824046 53824046 A T rs751759790 AMHR2 Nonsynonymous SNV T469S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.369 112830 chr4 122591155 122591155 C T rs145513784 ANXA5 Nonsynonymous SNV R245Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 33 112831 chr4 10445793 10445793 G A rs368272478 ZNF518B Synonymous SNV S720S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.217 112832 chr3 53156543 53156543 G C rs148576979 RFT1 Synonymous SNV G101G 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.648 112833 chr12 54520272 54520272 C A rs377096982 LINC02381 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 112834 chr5 133861431 133861431 G A JADE2 Nonsynonymous SNV G16E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.53 112835 chr5 133896510 133896510 G A rs759144936 JADE2 Nonsynonymous SNV A183T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.918 112836 chr5 134117733 134117733 C T rs143619246 DDX46 Synonymous SNV N334N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.41 112837 chr5 134366981 134366981 G A rs112172425 PITX1 Synonymous SNV T129T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 16.54 112838 chr4 110612101 110612104 TCTG - rs770617285 CASP6 T93Rfs*7 0.005 0.003 0 0 6 1 0 0 0 0 0 0 112839 chr4 123245629 123245629 C T rs111490757 KIAA1109 Synonymous SNV Y3614Y 0.006 0.018 0.003 5 7 7 0.013 1 0 0 0 0 Benign 6.715 112840 chr3 57322251 57322251 A T rs28515117 ASB14 Nonsynonymous SNV I81K 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 7.137 112841 chr3 57898928 57898928 C T rs146313438 SLMAP Synonymous SNV T139T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 13.13 112842 chr4 134073575 134073575 C T rs138358445 PCDH10 Synonymous SNV C760C 0.004 0.018 0.01 2 5 7 0.005 3 0 1 0 0 12 112843 chr4 138442415 138442415 C T rs373972822 PCDH18 Nonsynonymous SNV S1058N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.277 112844 chr5 13770919 13770919 T G rs951528702 DNAH5 Nonsynonymous SNV I3182L 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Uncertain significance 19.66 112845 chr2 234372855 234372855 G A DGKD Nonsynonymous SNV E1034K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 112846 chr5 138717683 138717683 G A rs369192547 SLC23A1 Nonsynonymous SNV A69V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 112847 chr12 58131667 58131667 G T AGAP2 Synonymous SNV P121P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.408 112848 chr16 10032401 10032401 G A rs78631453 GRIN2A Nonsynonymous SNV T141M 0.003 0.01 0 3 3 4 0.008 0 0 0 0 0 Benign/Likely benign 12.72 112849 chr2 70037739 70037739 C G rs2228202 ANXA4 Nonsynonymous SNV S137R 0.014 0.005 0 0 17 2 0 0 1 0 0 0 25.5 112850 chr2 70071305 70071305 T C rs17263534 GMCL1 Synonymous SNV N245N 0.013 0.005 0 0 15 2 0 0 1 0 0 0 4.834 112851 chr2 70143321 70143321 A T MXD1 Nonsynonymous SNV N48Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 112852 chr16 11367389 11367389 - GCTGTGGCCTGG rs764226778 PRM3 T22_R104delinsPGHSTGHGRGHESSMKKLMACVSQDNFSLSSAGEEEEEEEEEGEEEEKEELPVQGKLLLLEPERQEEGHKDNAEAQQSPEPKRTPSRPATKAQEGTPTAAPATVFREESIKSL* 0 0.003 0 2 0 1 0.005 0 0 0 0 0 112853 chr3 8675536 8675536 C T rs376396142 SSUH2 Nonsynonymous SNV R30H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.384 112854 chr4 154601099 154601099 A C rs530383273 LOC100419170 0.003 0.005 0 0 3 2 0 0 0 1 0 0 0.039 112855 chr2 235951369 235951369 G A rs114710262 SH3BP4 Synonymous SNV P652P 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 7.21 112856 chr4 145635443 145635443 A G rs201586087 HHIP Nonsynonymous SNV Y497C 0.004 0 0 0 5 0 0 0 0 0 0 0 26.6 112857 chr2 238280784 238280784 C T COL6A3 Synonymous SNV K685K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.657 112858 chr3 97851723 97851723 T C rs374301921 OR5H1 Nonsynonymous SNV L61S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.39 112859 chr2 238725962 238725962 G A rs182474506 RBM44 Nonsynonymous SNV D135N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.1 112860 chr4 153886104 153886104 G A rs2018007 FHDC1 Synonymous SNV L359L 0.008 0.005 0.007 6 9 2 0.015 2 0 0 0 0 Benign 1.237 112861 chr3 97851973 97851973 A G rs377130730 OR5H1 Synonymous SNV L144L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.039 112862 chr4 128608927 128608927 G A rs150681845 INTU Nonsynonymous SNV A452T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 3.081 112863 chr2 238990769 238990769 G A rs762674439 SCLY Synonymous SNV T232T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.773 112864 chr3 98217122 98217122 T C rs763111817 OR5K2 Nonsynonymous SNV F200L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.469 112865 chr12 6634806 6634806 G C NCAPD2 Nonsynonymous SNV E758Q 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 112866 chr2 71653770 71653770 G A rs199963949 ZNF638 Nonsynonymous SNV G1591S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.549 112867 chr3 98109527 98109527 C T rs370904570 OR5K3 Synonymous SNV H6H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.401 112868 chr12 6730220 6730220 C G rs116577757 LPAR5 Synonymous SNV A65A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.81 112869 chr16 19087089 19087089 C T rs143091032 COQ7 Synonymous SNV T100T 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 14.66 112870 chr16 19603113 19603113 G T VPS35L Nonsynonymous SNV C214F 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 31 112871 chr16 19896873 19896873 C T rs557045128 GPRC5B Nonsynonymous SNV R15H 0 0.003 0 5 0 1 0.013 0 0 0 0 0 9.465 112872 chr3 14220063 14220063 A G XPC Synonymous SNV A2A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.81 112873 chr12 70065214 70065214 T G rs61928092 BEST3 Nonsynonymous SNV Q152P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 112874 chr4 155536 155536 T C rs547022374 ZNF718 Nonsynonymous SNV L354P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.227 112875 chr12 7053039 7053039 C T rs780348551 RNU7-1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.664 112876 chr12 7073440 7073440 A - rs141878380 MIR200CHG 0 0 0.007 0 0 0 0 2 0 0 0 0 112877 chr4 100126147 100126147 T G rs149400992 ADH6 Synonymous SNV L346L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.567 112878 chr12 71148080 71148080 T C rs141302586 PTPRR Nonsynonymous SNV K4R 0.004 0.016 0.003 1 5 6 0.003 1 0 0 0 0 25.1 112879 chr2 241834996 241834996 C T rs200882977 MAB21L4 Nonsynonymous SNV R140H 0.004 0 0 0 5 0 0 0 0 0 0 0 21.5 112880 chr16 24582872 24582872 A G rs141394682 RBBP6 Synonymous SNV T1461T 0.003 0.01 0.003 5 3 4 0.013 1 0 0 0 0 0.033 112881 chr12 74686383 74686383 G A rs75993826 LOC100507377 0 0 0.037 0 0 0 0 11 0 0 0 0 6.963 112882 chr12 7522152 7522152 C T rs114521545 CD163L1 Synonymous SNV A1290A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 112883 chr12 7548934 7548934 G A rs114545892 CD163L1 Nonsynonymous SNV R613W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.41 112884 chr4 162577503 162577503 T A rs140183530 FSTL5 Nonsynonymous SNV N290Y 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 112885 chr12 7637872 7637872 G A rs61729513 CD163 Synonymous SNV L867L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.382 112886 chr2 242002306 242002306 G A rs74820922 SNED1 Nonsynonymous SNV A786T 0.014 0.016 0.007 4 17 6 0.01 2 0 1 0 0 0.309 112887 chr12 7640079 7640079 A T rs77754972 CD163 Nonsynonymous SNV N642K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.568 112888 chr16 27268792 27268792 - C NSMCE1 Frameshift insertion K34Efs*12 0 0 0 3 0 0 0.008 0 0 0 0 0 112889 chr2 242157188 242157188 G A rs150141704 ANO7 Nonsynonymous SNV R687H 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 33 112890 chr4 103964499 103964499 G A rs150832463 SLC9B2 Nonsynonymous SNV T310M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 112891 chr2 242157776 242157776 C G rs201381970 ANO7 Synonymous SNV A767A 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 9.025 112892 chr12 80191123 80191123 C T rs760214335 PPP1R12A Nonsynonymous SNV R659H 0 0 0.007 0 0 0 0 2 0 0 0 0 34 112893 chr2 242277109 242277109 G A rs34185831 SEPTIN2 Synonymous SNV A126A 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 Benign 14.94 112894 chr4 114275980 114275980 G A rs149645600 ANK2 Nonsynonymous SNV R2069H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.1 112895 chr3 160955929 160955929 A G rs374527896 NMD3 Synonymous SNV K202K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.33 112896 chr4 113303632 113303632 A G rs33943680 ALPK1 Nonsynonymous SNV Q67R 0.009 0.016 0 2 10 6 0.005 0 1 0 0 0 Likely benign 25.7 112897 chr4 113348782 113348782 C T rs777786049 ALPK1 Synonymous SNV N174N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.71 112898 chr4 113351850 113351850 A G rs147641444 ALPK1 Nonsynonymous SNV K305E 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 0.232 112899 chr2 98351783 98351783 C T rs199944085 ZAP70 Nonsynonymous SNV R78C 0.003 0 0 0 4 0 0 0 0 0 0 0 28.9 112900 chr4 15640319 15640323 TAAAT - rs748693785 FBXL5 0.003 0 0 1 3 0 0.003 0 0 0 0 0 112901 chr3 167508355 167508355 A C rs779736255 SERPINI1 Nonsynonymous SNV N149T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.65 112902 chr12 91449715 91449715 C G KERA Nonsynonymous SNV G115A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 112903 chr4 114238881 114238881 C T rs149310669 ANK2 Synonymous SNV S113S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 19.25 112904 chr5 150029229 150029229 G A rs200798227 SYNPO Synonymous SNV K464K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.411 112905 chr2 26533898 26533898 C T rs72811754 ADGRF3 Nonsynonymous SNV V701I 0.014 0.005 0 1 16 2 0.003 0 1 0 0 0 2.273 112906 chr5 150496701 150496701 C T rs200015828 ANXA6 Nonsynonymous SNV R488Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.8 112907 chr4 159789988 159789988 C T rs199737425 FNIP2 Nonsynonymous SNV R380C 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 24.5 112908 chr4 123748127 123748127 G A rs931304683 FGF2 Nonsynonymous SNV R66K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.647 112909 chr16 50402112 50402112 G C rs145220538 BRD7 Nonsynonymous SNV F49L 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 15.08 112910 chr3 10291135 10291135 T C rs148201381 TATDN2 Nonsynonymous SNV F84S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.087 112911 chr12 95681492 95681492 C A rs201317857 VEZT Nonsynonymous SNV Q317K 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 14.12 112912 chr2 27427374 27427374 C T SLC5A6 Synonymous SNV Q320Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 112913 chr2 27427382 27427382 A T SLC5A6 Nonsynonymous SNV Y318N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.57 112914 chr4 20711349 20711349 C T rs146026643 PACRGL Nonsynonymous SNV P107S 0.009 0.021 0 3 10 8 0.008 0 0 0 0 0 16.17 112915 chr16 55361806 55361806 G A rs759776004 IRX6 0 0.003 0 3 0 1 0.008 0 0 0 0 0 23.6 112916 chr4 129793403 129793403 A G rs368196518 JADE1 Nonsynonymous SNV I827V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 14.22 112917 chr4 129920837 129920837 T C rs142407438 SCLT1 Nonsynonymous SNV Q180R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 9.488 112918 chr13 100622892 100622892 C T rs186203798 ZIC5 Synonymous SNV G346G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.644 112919 chr3 111427208 111427208 G A rs201796337 PLCXD2 Nonsynonymous SNV R200Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 112920 chr4 3149777 3149777 A C rs529839694 HTT Nonsynonymous SNV E1114A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 112921 chr4 3234979 3234979 C T rs200390355 HTT Synonymous SNV G2785G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.03 112922 chr13 109610079 109610079 C T rs759752486 MYO16 Nonsynonymous SNV R657C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 112923 chr5 159833565 159833565 C T rs1023079296 SLU7 Synonymous SNV E414E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 16 112924 chr4 1985668 1985668 G A rs2234574 NELFA Synonymous SNV V403V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 10.38 112925 chr3 112998120 112998120 C A rs747804173 BOC Nonsynonymous SNV T614N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 112926 chr3 184295518 184295518 C T rs144538024 EPHB3 Nonsynonymous SNV R518C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 112927 chr13 113795315 113795315 C T rs748208043 F10 Synonymous SNV C151C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 10.38 112928 chr13 113817354 113817354 C G PROZ Synonymous SNV L97L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.605 112929 chr13 113850526 113850526 G A rs142488367 PCID2 Stop gain R93X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 112930 chr13 114623782 114623782 C T rs9604524 LINC00452 Nonsynonymous SNV P207L 0.003 0.003 0.014 1 4 1 0.003 4 0 0 1 0 1.451 112931 chr16 67116169 67116169 C T rs78053453 CBFB Synonymous SNV R112R 0.003 0.01 0.003 6 4 4 0.015 1 0 0 0 0 19.01 112932 chr4 154388363 154388363 C T rs78441178 TMEM131L Nonsynonymous SNV A42V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 112933 chr16 67189049 67189049 G A rs140751015 TRADD Nonsynonymous SNV P193L 0.003 0.008 0 6 4 3 0.015 0 0 0 0 0 2.151 112934 chr16 67197309 67197309 G A rs61735433 FBXL8 Synonymous SNV L237L 0.004 0.013 0.003 7 5 5 0.018 1 0 0 0 0 Benign 6.237 112935 chr4 41621386 41621386 A G LIMCH1 Synonymous SNV K134K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.221 112936 chr16 67207897 67207897 G A rs761063267 NOL3 Synonymous SNV P42P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.076 112937 chr16 67229827 67229827 - AGT E2F4 S319_N320insS 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 112938 chr3 121203923 121203923 T C rs778621509 POLQ Nonsynonymous SNV Y1913C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 112939 chr16 67262766 67262766 C T rs34502419 TMEM208 Synonymous SNV V52V 0.003 0.008 0 6 4 3 0.015 0 0 0 0 0 Benign 14.31 112940 chr16 67266065 67266065 T C rs34888644 FHOD1 Synonymous SNV T693T 0.004 0.013 0.003 7 5 5 0.018 1 0 0 0 0 9.136 112941 chr3 121260299 121260299 A C POLQ Nonsynonymous SNV V124G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 112942 chr16 67440289 67440289 C T rs8058306 ZDHHC1 Synonymous SNV T22T 0.004 0.013 0.003 6 5 5 0.015 1 0 0 0 0 8.985 112943 chr16 67919930 67919930 A C rs73593844 NRN1L Nonsynonymous SNV E89A 0.003 0.013 0.007 5 3 5 0.013 2 0 0 0 0 24.1 112944 chr5 176798918 176798918 G A rs201610540 RGS14 Nonsynonymous SNV D516N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 112945 chr16 67965717 67965717 G A rs549304518 CTRL Synonymous SNV L13L 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 10.5 112946 chr16 67995491 67995491 C T rs61738598 SLC12A4 Nonsynonymous SNV R112Q 0.007 0.016 0.003 5 8 6 0.013 1 0 0 0 0 26.6 112947 chr16 68011867 68011867 C T rs16957670 DPEP3 Nonsynonymous SNV V244I 0.007 0.016 0.003 5 8 6 0.013 1 0 0 0 0 3.092 112948 chr16 68024850 68024850 A G rs10500542 DPEP2 Synonymous SNV H103H 0.007 0.018 0.01 5 8 7 0.013 3 0 0 0 0 0.806 112949 chr4 156638388 156638388 G A rs62636599 GUCY1A1 Synonymous SNV A550A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.56 112950 chr4 156723387 156723387 G A rs375280968 GUCY1B1 Nonsynonymous SNV A332T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 5.948 112951 chr16 68732187 68732187 C T rs773718880 CDH3 Synonymous SNV L737L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.01 112952 chr5 176951933 176951933 G C rs370017170 FAM193B Nonsynonymous SNV P517A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.707 112953 chr16 69318005 69318005 A G rs151173808 SNTB2 Synonymous SNV T401T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 3.762 112954 chr3 122578970 122578970 G A rs762829085 SLC49A4 Synonymous SNV L353L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 112955 chr4 3076628 3076630 CAG - HTT Q38del 0.002 0 0 0 2 0 0 0 0 0 0 0 112956 chr5 179045000 179045000 T C rs115489078 HNRNPH1 Synonymous SNV R207R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 6.664 112957 chr16 72991663 72991663 C T rs143678779 ZFHX3 Synonymous SNV S794S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 9.983 112958 chr2 61416097 61416097 C T rs770124669 USP34 Synonymous SNV L3327L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 1 8.442 112959 chr2 65245292 65245292 G C rs6756968 SLC1A4 Synonymous SNV G76G 0.008 0 0.01 4 9 0 0.01 3 0 0 1 0 9.001 112960 chr16 76587325 76587325 C T rs115991219 CNTNAP4 Synonymous SNV H1067H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.47 112961 chr2 65315679 65315679 T C rs61748092 RAB1A Nonsynonymous SNV N113S 0.006 0.005 0.01 4 7 2 0.01 3 0 0 1 0 Benign 7.739 112962 chr4 57181336 57181336 C T CRACD Synonymous SNV S556S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 112963 chr3 129238426 129238426 T A rs200606803 IFT122 Nonsynonymous SNV F1053I 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Uncertain significance 24.3 112964 chr3 129251438 129251438 G T rs756658659 RHO Nonsynonymous SNV M253I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 112965 chr16 77822722 77822722 C T rs61737715 VAT1L Nonsynonymous SNV A48V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 112966 chr16 80646624 80646624 C T CDYL2 Nonsynonymous SNV A373T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 27.2 112967 chr16 81058354 81058354 A G rs11641523 CENPN Nonsynonymous SNV Q203R 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 1 9.132 112968 chr4 184367611 184367611 A G rs73870525 CDKN2AIP Synonymous SNV Q258Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 112969 chr4 184367725 184367725 A G rs73870526 CDKN2AIP Synonymous SNV S296S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 112970 chr4 184367881 184367881 G A rs73870527 CDKN2AIP Synonymous SNV K348K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.514 112971 chr5 36105266 36105266 G T rs201200461 LMBRD2 Nonsynonymous SNV T644N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.28 112972 chr13 52313253 52313253 G A rs77486739 WDFY2 Nonsynonymous SNV V223I 0.008 0 0.02 0 9 0 0 6 0 0 1 0 14.14 112973 chr4 7435368 7435368 C T rs61740143 PSAPL1 Synonymous SNV K413K 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 9.821 112974 chr5 41052605 41052605 A G rs772186385 MROH2B Nonsynonymous SNV Y398H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 27 112975 chr4 2306158 2306158 G C ZFYVE28 Nonsynonymous SNV H607D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.91 112976 chr13 76397710 76397710 G A rs142994139 LMO7 Nonsynonymous SNV A557T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 19.75 112977 chr4 57266959 57266959 G A rs77101789 PPAT Synonymous SNV Y335Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 112978 chr13 92345530 92345530 G C rs369076704 GPC5 Nonsynonymous SNV A139P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 18.27 112979 chr5 52369001 52369001 C T rs79932422 ITGA2 Nonsynonymous SNV T828M 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 Benign 16.72 112980 chr13 96241445 96241445 T A rs34303958 DZIP1 Nonsynonymous SNV M645L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.058 112981 chr2 87042803 87042803 - G rs767983404 CD8B Frameshift insertion N178Qfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 112982 chr13 99098964 99098964 C T rs61730897 FARP1 Synonymous SNV L983L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.47 112983 chr13 99512774 99512774 A G rs9584956 DOCK9 Synonymous SNV T1195T 0 0 0.01 0 0 0 0 3 0 0 0 0 0.278 112984 chr2 95847843 95847843 G A rs1027108790 ZNF2 Nonsynonymous SNV G344R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 112985 chr14 100608130 100608130 G A rs551558822 EVL Nonsynonymous SNV A405T 0 0 0.003 0 0 0 0 1 0 0 0 0 31 112986 chr4 84509367 84509367 A G rs140308062 GPAT3 Nonsynonymous SNV K187E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.2 112987 chr16 88782777 88782777 G A rs34352064 PIEZO1 Synonymous SNV D2347D 0.006 0.016 0.007 8 7 6 0.021 2 0 0 0 0 Benign 7.815 112988 chr16 88798874 88798874 G T rs765257824 PIEZO1 Synonymous SNV R954R 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 13.93 112989 chr14 103006047 103006047 G C rs12879262 MIR4309 0 0 0.119 0 0 0 0 35 0 0 2 0 1.801 112990 chr14 103568956 103568956 C T rs371500721 EXOC3L4 Nonsynonymous SNV P299L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 112991 chr4 89018670 89018670 C T rs45605536 ABCG2 Nonsynonymous SNV A528T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 112992 chr14 104638273 104638273 G A KIF26A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 112993 chr4 95377602 95377602 G A rs11932224 PDLIM5 Nonsynonymous SNV A102T 0.004 0.01 0.003 4 5 4 0.01 1 0 0 0 0 1.961 112994 chr14 105175679 105175679 G A rs780081758 INF2 Nonsynonymous SNV V671I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 112995 chr3 108363144 108363144 T G rs146535652 DZIP3 Synonymous SNV L425L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.991 112996 chr3 160803784 160803784 G A rs199652282 B3GALNT1 Synonymous SNV I253I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 112997 chr4 84376697 84376697 G A rs150006112 HELQ Synonymous SNV N50N 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 3.516 112998 chr3 16250027 16250027 C A rs377237497 GALNT15 Nonsynonymous SNV P310Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 112999 chr4 8442998 8442998 C T rs376568530 TRMT44 Nonsynonymous SNV S150F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.472 113000 chr4 8582719 8582719 G A rs150245461 GPR78 Nonsynonymous SNV G4S 0.011 0.003 0.003 3 13 1 0.008 1 0 0 0 0 10.57 113001 chr14 105393539 105393539 G A rs538498962 PLD4 Nonsynonymous SNV R28H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.137 113002 chr3 46747361 46747361 G A rs367626468 TMIE Nonsynonymous SNV V6M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 113003 chr14 105957462 105957462 G T rs781966169 TEDC1 Nonsynonymous SNV W8L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.958 113004 chr4 87556430 87556430 G A rs10025433 PTPN13 Synonymous SNV E7E 0.007 0.003 0.01 4 8 1 0.01 3 0 0 0 0 10.65 113005 chr4 996258 996258 C T rs201682298 IDUA Synonymous SNV L260L 0.016 0.018 0.003 5 19 7 0.013 1 0 0 0 0 Benign 13.53 113006 chr4 87692496 87692496 G A rs200197835 PTPN13 Nonsynonymous SNV G1468E 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 23.8 113007 chr3 47459168 47459168 G C rs759401951 SCAP Nonsynonymous SNV L610V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 113008 chr4 88035954 88035954 C T rs746639911 AFF1 Nonsynonymous SNV R288W 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.3 113009 chr3 172065148 172065148 A G rs113522210 FNDC3B Synonymous SNV L837L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.652 113010 chr3 17208341 17208341 G T rs139210370 TBC1D5 Nonsynonymous SNV A535E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 113011 chr4 89028352 89028352 T C rs199854112 ABCG2 Nonsynonymous SNV T421A 0.01 0.013 0.003 1 12 5 0.003 1 0 0 0 0 2.169 113012 chr3 48682513 48682513 G A rs150059791 CELSR3 Nonsynonymous SNV R2643C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 113013 chr3 48956263 48956263 C A rs377462237 ARIH2OS 0 0.003 0 0 0 1 0 0 0 0 0 0 18.39 113014 chr3 49050001 49050001 G A rs144958485 WDR6 Nonsynonymous SNV R319H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.687 113015 chr14 20876541 20876541 G T rs145064396 TEP1 Synonymous SNV R20R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 11.24 113016 chr3 179104367 179104367 G A rs769772475 MFN1 Synonymous SNV L654L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.049 113017 chr3 11643453 11643453 C T rs140210901 VGLL4 Synonymous SNV P42P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 16.99 113018 chr3 52008013 52008013 A G ABHD14B Nonsynonymous SNV L22P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.398 113019 chr17 3550784 3550784 C T rs117404824 CTNS Synonymous SNV N36N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 8.666 113020 chr4 85654658 85654658 G A rs780363666 WDFY3 Synonymous SNV L2366L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.614 113021 chr4 99996164 99996164 C T ADH5 Nonsynonymous SNV V288I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 113022 chr5 80390704 80390704 C T rs16878437 RASGRF2 Synonymous SNV L550L 0.014 0.005 0.01 12 17 2 0.031 3 0 0 0 0 13.18 113023 chr3 184070902 184070902 G A rs368380934 CLCN2 Nonsynonymous SNV R644W 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 26.2 113024 chr17 3924504 3924504 T G rs986992666 ZZEF1 Synonymous SNV P2441P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.224 113025 chr3 185165665 185165665 G - MAP3K13 A107Lfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 113026 chr3 186358907 186358907 G A rs373009962 FETUB Nonsynonymous SNV G105E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.001 113027 chr17 4448049 4448049 G T rs182614447 MYBBP1A Synonymous SNV I826I 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Benign 4.36 113028 chr5 131008200 131008200 T G rs776230063 FNIP1 Nonsynonymous SNV E618A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.89 113029 chr17 4594228 4594228 C T rs377089684 PELP1 Synonymous SNV Q125Q 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 14.83 113030 chr17 4619917 4619917 T G rs192983858 ARRB2 Nonsynonymous SNV L124R 0.001 0.003 0.003 7 1 1 0.018 1 0 0 0 0 6.057 113031 chr3 58089735 58089735 C T rs371251819 FLNB Synonymous SNV Y511Y 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 13.56 113032 chr5 131607096 131607096 G A rs145687686 PDLIM4 Nonsynonymous SNV A203T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 5.736 113033 chr5 132222057 132222057 T C rs755081153 AFF4 Nonsynonymous SNV K1015R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 113034 chr14 24659748 24659748 A G rs776725161 TM9SF1 Nonsynonymous SNV V422A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 28.8 113035 chr17 4837170 4837170 C T rs763902783 GP1BA Nonsynonymous SNV P424L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 6.839 113036 chr14 24724705 24724705 A G TGM1 Nonsynonymous SNV Y504H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 113037 chr17 4837369 4837369 C T rs368560270 GP1BA Synonymous SNV S490S 0.001 0 0 5 1 0 0.013 0 0 0 0 0 5.398 113038 chr4 74124209 74124209 G A ANKRD17 Synonymous SNV D59D 0.005 0 0 2 6 0 0.005 0 0 0 0 0 7.548 113039 chr17 4859364 4859364 C T rs2230257 ENO3 Synonymous SNV A288A 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 Benign/Likely benign 22 113040 chr17 4859412 4859412 C T rs114208569 ENO3 Synonymous SNV I304I 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Benign 17.06 113041 chr17 4923377 4923379 AGA - rs551276433 KIF1C-AS1 0.001 0 0 5 1 0 0.013 0 0 0 0 0 113042 chr17 4937413 4937413 G A rs146289149 SLC52A1 Nonsynonymous SNV A124V 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Benign 9.785 113043 chr17 5087478 5087478 T C rs74803378 ZNF594 Nonsynonymous SNV Q25R 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.001 113044 chr5 121362659 121362659 G A SRFBP1 Synonymous SNV Q376Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.354 113045 chr17 5347687 5347687 C T rs761146732 DHX33 Synonymous SNV P481P 0.001 0 0 5 1 0 0.013 0 0 0 0 0 15.04 113046 chr5 122110810 122110810 G C rs192241316 SNX2 Nonsynonymous SNV E4D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.1 113047 chr3 19498358 19498358 A G rs145641641 KCNH8 Nonsynonymous SNV I642V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.59 113048 chr5 122153010 122153010 G C rs200594938 SNX2 Synonymous SNV L199L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.594 113049 chr3 195460046 195460046 C T rs376887409 MUC20 Nonsynonymous SNV A696V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.279 113050 chr4 77817708 77817708 C T SOWAHB Nonsynonymous SNV R432K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.011 113051 chr5 1035519 1035519 G A rs137977762 NKD2 Nonsynonymous SNV R197H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 12.08 113052 chr5 123983323 123983323 A T rs375912528 ZNF608 Synonymous SNV P918P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 113053 chr14 35249464 35249464 G T BAZ1A Nonsynonymous SNV Q690K 0 0 0.003 0 0 0 0 1 0 0 0 0 22 113054 chr14 35270368 35270368 G C rs746414553 BAZ1A Nonsynonymous SNV A298G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.14 113055 chr14 36096354 36096354 C T RALGAPA1 Nonsynonymous SNV A2220T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 113056 chr5 138861257 138861257 C T rs149842998 STING1 Synonymous SNV P11P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 11.7 113057 chr5 128797258 128797258 G C rs147557427 ADAMTS19 Synonymous SNV L185L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 12.15 113058 chr14 39709768 39709768 G A rs147972251 MIA2 Nonsynonymous SNV G85R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 113059 chr3 196736648 196736648 C T rs201599188 MELTF Nonsynonymous SNV V456M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 113060 chr3 196737584 196737584 C T rs145583769 MELTF Nonsynonymous SNV G439R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 113061 chr5 131257608 131257608 G A MEIKIN Nonsynonymous SNV H169Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.713 113062 chr14 50195700 50195700 G A rs748959379 KLHDC1 Synonymous SNV K208K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 113063 chr3 197427677 197427679 GGA - rs371317367 RUBCN S299del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 113064 chr6 116381271 116381271 T C FRK Synonymous SNV K68K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.68 113065 chr5 132159576 132159576 C T rs144919403 SHROOM1 Nonsynonymous SNV A593T 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign 22.1 113066 chr5 134246098 134246098 C T rs757575383 PCBD2 Nonsynonymous SNV S53L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.73 113067 chr5 1216983 1216983 C T rs371553611 SLC6A19 Nonsynonymous SNV R366W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 113068 chr14 52507491 52507491 C A rs117965887 NID2 Nonsynonymous SNV G635V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 31 113069 chr3 132198097 132198097 G A rs61748099 DNAJC13 Synonymous SNV R912R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.5 113070 chr5 140625275 140625275 T - PCDHB15 F44Lfs*2 0 0.003 0 1 0 1 0.003 0 0 0 0 0 113071 chr3 132247160 132247160 T G rs140537885 DNAJC13 Nonsynonymous SNV L2170W 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 28.4 113072 chr5 140699219 140699219 G C rs139292924 TAF7 Nonsynonymous SNV I131M 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.7 113073 chr3 33134598 33134598 T C rs115958137 TMPPE Nonsynonymous SNV I364V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 1 9.773 113074 chr14 55895533 55895533 C T rs78201646 TBPL2 Synonymous SNV Q316Q 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 12.55 113075 chr5 140767503 140767503 T G rs200817766 PCDHGB4 Nonsynonymous SNV F18V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 3.508 113076 chr3 33725866 33725866 C T rs78304223 CLASP2 Nonsynonymous SNV G210E 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 29.5 113077 chr5 138715992 138715992 C T rs376068972 SLC23A1 Synonymous SNV G184G 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.61 113078 chr14 59950623 59950623 G A rs201988078 L3HYPDH Nonsynonymous SNV P138S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.7 113079 chr3 134366278 134366278 G A rs747530241 KY Synonymous SNV H66H 0.003 0 0 0 4 0 0 0 0 0 0 0 1.753 113080 chr14 61186776 61186776 G A SIX4 Synonymous SNV D417D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.21 113081 chr4 89912184 89912184 T A FAM13A Nonsynonymous SNV H182L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 113082 chr4 90872881 90872881 G A rs201134851 MMRN1 Nonsynonymous SNV E1082K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 113083 chr5 140502214 140502214 G A rs143468983 PCDHB4 Nonsynonymous SNV V212M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.95 113084 chr14 64954661 64954661 C T ZBTB25 Synonymous SNV E96E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.36 113085 chr5 140502218 140502218 C G rs147134705 PCDHB4 Nonsynonymous SNV A213G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 113086 chr14 65560666 65560666 G A rs191223151 LOC100506321 0.01 0.003 0.003 4 12 1 0.01 1 0 0 0 0 13.75 113087 chr3 145824347 145824347 G A rs148118826 PLOD2 Nonsynonymous SNV T196I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Uncertain significance 28.8 113088 chr14 68157898 68157898 G A rs370918702 RDH11 Nonsynonymous SNV T138I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 113089 chr5 140740472 140740472 C T rs368319132 PCDHGB2 Nonsynonymous SNV P257L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 113090 chr4 119161699 119161699 C T rs17049697 NDST3 Synonymous SNV D713D 0.01 0.008 0.024 2 12 3 0.005 7 0 0 0 0 8.239 113091 chr3 42610411 42610411 C T rs149910601 SEC22C Nonsynonymous SNV R43Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 19.81 113092 chr17 17697796 17697796 C T RAI1 Nonsynonymous SNV P512S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.023 113093 chr6 146273614 146273614 C T rs185438897 SHPRH Nonsynonymous SNV V212I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.3 113094 chr5 107717255 107717255 C T FBXL17 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.3 113095 chr6 146276291 146276291 A G SHPRH Synonymous SNV I56I 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 0.009 113096 chr17 18129027 18129027 G A rs200829360 LLGL1 Nonsynonymous SNV A11T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.661 113097 chr14 73749074 73749074 G A rs61739599 NUMB Synonymous SNV T352T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.61 113098 chr14 74179704 74179704 A G rs149188135 PNMA1 Synonymous SNV V213V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.295 113099 chr6 151152250 151152250 A G rs148178393 PLEKHG1 Nonsynonymous SNV D629G 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 28.8 113100 chr17 18923069 18923069 C T rs757721848 SLC5A10 Nonsynonymous SNV T458M 0 0 0 3 0 0 0.008 0 0 0 0 0 18.61 113101 chr14 74711895 74711895 G T rs143366810 VSX2 Nonsynonymous SNV E161D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 113102 chr17 19289687 19289687 G A rs757024950 MFAP4 Nonsynonymous SNV P83L 0 0 0 3 0 0 0.008 0 0 0 0 0 25.5 113103 chr17 19458975 19458975 - A rs762001651 SLC47A1 Frameshift insertion L240Tfs*39 0 0 0 3 0 0 0.008 0 0 0 0 0 113104 chr3 46620827 46620827 A G rs145684302 TDGF1 Nonsynonymous SNV Q49R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 113105 chr3 46620828 46620828 G A rs142532036 TDGF1 Synonymous SNV Q49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.652 113106 chr3 47037985 47037985 G A rs200489667 NBEAL2 Synonymous SNV R758R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 9.585 113107 chr3 47047500 47047500 G A rs181413143 NBEAL2 Nonsynonymous SNV R2255Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 29.8 113108 chr3 164755719 164755719 T C rs150246328 SI Nonsynonymous SNV I799V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.33 113109 chr3 47447473 47447473 C A rs138320436 PTPN23 Nonsynonymous SNV F35L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 24.6 113110 chr5 152873573 152873573 C A GRIA1 Synonymous SNV L56L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.08 113111 chr5 1279439 1279439 G A rs33963617 TERT Synonymous SNV A699A 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 Benign 2.64 113112 chr3 168845705 168845705 C T rs371291867 MECOM Nonsynonymous SNV E65K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 113113 chr5 141025385 141025385 G A rs200877938 FCHSD1 Nonsynonymous SNV R422W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 33 113114 chr5 150723761 150723761 C T rs201695026 SLC36A2 Nonsynonymous SNV A78T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 113115 chr14 91666127 91666127 G A rs138297457 DGLUCY Nonsynonymous SNV R441H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 113116 chr5 131657959 131657959 G A rs146340469 SLC22A4 Synonymous SNV L245L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.019 113117 chr5 150911258 150911258 C T rs369725513 FAT2 Nonsynonymous SNV G3234D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.6 113118 chr3 175181200 175181200 G A rs144915385 NAALADL2 Nonsynonymous SNV V416I 0.005 0 0.003 0 6 0 0 1 0 0 0 0 0.664 113119 chr14 94830104 94830104 - TTGATGATGACCAGGAAGGGCCGGTTGAACATGACTGTCTG SERPINA2 0.012 0.013 0.007 4 14 5 0.01 2 0 0 1 0 113120 chr3 18055220 18055220 A G rs149877768 LOC339862 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 2.185 113121 chr14 96157643 96157643 G T TCL1B Synonymous SNV P124P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.626 113122 chr6 166864686 166864686 G A rs61733655 RPS6KA2 Nonsynonymous SNV H273Y 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 14.66 113123 chr5 137476457 137476457 G A rs115912769 BRD8 Synonymous SNV D1184D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.608 113124 chr5 148748034 148748034 C T rs748443591 PCYOX1L Synonymous SNV L417L 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 9.835 113125 chr5 138714948 138714948 C T rs141189553 SLC23A1 Nonsynonymous SNV A341T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.9 113126 chr4 16900036 16900036 T C rs140709141 LDB2 Nonsynonymous SNV M25V 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 9.543 113127 chr3 52521522 52521522 G A rs148434820 NISCH Nonsynonymous SNV E672K 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 9.804 113128 chr17 34344923 34344923 G A rs375886133 CCL23 Synonymous SNV S4S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.17 113129 chr15 101094071 101094071 - CA rs796114556 PRKXP1 0 0 0.024 0 0 0 0 7 0 0 2 0 113130 chr3 53164412 53164412 C T rs185366134 RFT1 Nonsynonymous SNV G2D 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 113131 chr5 139228061 139228078 CCGGGCCCGGGCCCGGGT - rs763612026 NRG2 P596_G601del 0.001 0 0 0 1 0 0 0 0 0 0 0 113132 chr5 167835608 167835608 C T rs139783136 WWC1 Synonymous SNV L273L 0.003 0 0.014 2 3 0 0.005 4 0 0 0 0 8.339 113133 chr5 139936995 139936995 C T rs774601225 SRA1 Nonsynonymous SNV A15T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.353 113134 chr15 101562626 101562626 C T rs192470343 LRRK1 Nonsynonymous SNV R631W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 113135 chr17 36484433 36484433 G C rs182907807 GPR179 Synonymous SNV T1673T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Likely benign 0.046 113136 chr4 173730663 173730663 C T rs756840694 GALNTL6 Synonymous SNV C235C 0 0.005 0 0 0 2 0 0 0 0 0 0 16.31 113137 chr15 21936669 21936669 C A rs754776854 LOC646214 0 0 0.061 0 0 0 0 18 0 0 0 0 14.09 113138 chr3 187003612 187003612 C T MASP1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 113139 chr3 187088745 187088745 G C rs145014578 RTP4 Nonsynonymous SNV D109H 0.019 0.008 0.017 13 22 3 0.033 5 1 0 0 1 21.4 113140 chr15 25277609 25277609 A G rs141240141 PWAR6 0 0 0.024 0 0 0 0 7 0 0 1 0 5.096 113141 chr5 140256734 140256734 C T PCDHA12 Synonymous SNV N559N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.528 113142 chr17 37829789 37829789 G C PGAP3 Nonsynonymous SNV N173K 0 0 0 2 0 0 0.005 0 0 0 0 0 30 113143 chr15 25496028 25496028 A G rs72546368 SNORD115-44 0 0 0.017 0 0 0 0 5 0 0 0 0 8.071 113144 chr15 25925284 25925284 C T rs116641809 ATP10A Nonsynonymous SNV A1284T 0.014 0.01 0.017 0 17 4 0 5 0 0 0 0 Benign 8.488 113145 chr5 173035295 173035295 - CTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGC BOD1 Q121_I122insPGPSSSIPGHFLR 0.001 0.003 0 0 1 1 0 0 0 0 0 0 113146 chr5 173416369 173416369 C T rs141422823 C5orf47 Nonsynonymous SNV R35C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.4 113147 chr17 38445837 38445837 C T rs142289528 CDC6 Synonymous SNV P55P 0.013 0.005 0.01 7 15 2 0.018 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.92 113148 chr17 38552581 38552581 A G rs754958514 TOP2A Nonsynonymous SNV I1225T 0 0 0.003 3 0 0 0.008 1 0 0 0 0 1.526 113149 chr15 29421059 29421059 A C rs200682124 FAM189A1 Nonsynonymous SNV S312R 0.009 0.005 0.007 6 11 2 0.015 2 0 0 0 0 Likely benign 4.135 113150 chr3 66460631 66460631 T C rs143102583 LRIG1 Nonsynonymous SNV H286R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.98 113151 chr3 67451197 67451197 G A rs7623258 SUCLG2 Nonsynonymous SNV R381W 0.003 0 0.007 0 4 0 0 2 1 0 1 0 Benign 27.1 113152 chr3 69072391 69072391 G A rs35783734 TMF1 Synonymous SNV L1076L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.833 113153 chr3 69096513 69096513 C T rs34428015 TMF1 Nonsynonymous SNV C448Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 113154 chr15 33191041 33191041 A G rs370853923 FMN1 Synonymous SNV Y1013Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.38 113155 chr3 69097224 69097224 G A rs776807922 TMF1 Nonsynonymous SNV S211F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.04 113156 chr3 195013094 195013094 T C rs112375796 ACAP2 Nonsynonymous SNV N618S 0.006 0 0 3 7 0 0.008 0 0 0 0 0 10.33 113157 chr15 34356063 34356063 G A rs138220644 CHRM5 Nonsynonymous SNV R382Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 113158 chr15 34380331 34380331 T A rs140117138 EMC7 Nonsynonymous SNV M167L 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 13.1 113159 chr15 34388147 34388147 G A rs142313992 EMC7 Nonsynonymous SNV A102V 0 0 0.007 0 0 0 0 2 0 0 0 0 17.94 113160 chr15 34610786 34610786 G A rs150751809 SLC12A6 Nonsynonymous SNV R32W 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Uncertain significance 18.23 113161 chr5 163622 163622 G A rs3810866 PLEKHG4B Synonymous SNV G1145G 0.01 0.013 0.014 3 12 5 0.008 4 0 0 0 0 3.121 113162 chr5 143853299 143853299 C T rs146014269 KCTD16 Synonymous SNV S303S 0.013 0.008 0.01 6 15 3 0.015 3 0 0 0 0 11.6 113163 chr3 9486917 9486917 C T rs371491667 SETD5 Nonsynonymous SNV S458L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 113164 chr5 171639137 171639137 G A rs143342861 UBTD2 Synonymous SNV S134S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.635 113165 chr3 9854662 9854662 G A rs370053969 ARPC4-TTLL3, TTLL3 Synonymous SNV P171P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.753 113166 chr3 28335989 28335989 G A rs901786751 CMC1 Synonymous SNV K58K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 7.011 113167 chr5 31532534 31532534 G C rs76256365 C5orf22 Nonsynonymous SNV R12P 0.007 0.016 0.01 5 8 6 0.013 3 0 0 0 0 28.6 113168 chr15 42167165 42167165 T C rs111958620 SPTBN5 Synonymous SNV K1459K 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 0.007 113169 chr5 32233963 32233963 G T rs61755422 MTMR12 Synonymous SNV P530P 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 10.31 113170 chr5 32710875 32710875 G A rs926389452 NPR3 Nonsynonymous SNV G36D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 113171 chr17 39661419 39661419 G A rs149623369 KRT13 Synonymous SNV A128A 0.011 0.005 0.017 10 13 2 0.026 5 0 0 0 1 Benign/Likely benign 3.242 113172 chr3 36873712 36873712 G A rs376331606 TRANK1 Synonymous SNV A2410A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.062 113173 chr5 178413204 178413204 C T rs201728158 GRM6 Nonsynonymous SNV R684H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 33 113174 chr15 42702183 42702183 C T rs886042557 CAPN3 Nonsynonymous SNV A37V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 34 113175 chr17 39914986 39914986 C T rs782555688 JUP Nonsynonymous SNV G545D 0 0 0 3 0 0 0.008 0 0 0 0 0 23.6 113176 chr15 43438742 43438742 T A rs193087163 TMEM62 Synonymous SNV T44T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 113177 chr17 40354434 40354434 C T rs750095303 STAT5B Nonsynonymous SNV G721S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Uncertain significance 10.51 113178 chr15 43585819 43585819 C A TGM7 Nonsynonymous SNV L7F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 113179 chr15 48902965 48902965 G A rs25388 FBN1 Synonymous SNV C102C 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign/Likely benign 8.555 113180 chr3 40223771 40223771 G A rs59923220 MYRIP Nonsynonymous SNV A125T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.654 113181 chr5 191778 191778 A T rs1048522558 LRRC14B Nonsynonymous SNV Y42F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 113182 chr3 40433680 40433680 G T rs111576875 ENTPD3-AS1 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.514 113183 chr5 205574 205574 G A rs73730755 CCDC127 Synonymous SNV A207A 0.014 0.018 0.02 3 17 7 0.008 6 0 0 0 0 5.227 113184 chr15 51634052 51634052 G A GLDN Synonymous SNV R57R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 113185 chr3 41877410 41877410 T G rs192218045 ULK4 Nonsynonymous SNV L268F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.9 113186 chr6 42072971 42072971 A G C6orf132 Synonymous SNV T893T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.476 113187 chr5 159344700 159344700 A T ADRA1B Nonsynonymous SNV D263V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 113188 chr5 32061148 32061148 C T rs151107183 PDZD2 Nonsynonymous SNV R787C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29.6 113189 chr5 5240017 5240017 C A rs72647759 ADAMTS16 Synonymous SNV T834T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.88 113190 chr15 55727243 55727243 T A DNAAF4 Nonsynonymous SNV T303S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 113191 chr17 43323283 43323283 C T rs73984350 FMNL1 Synonymous SNV A1011A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 16.04 113192 chr4 119673889 119673889 G A rs141180741 SEC24D Nonsynonymous SNV L527F 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Benign 29.6 113193 chr17 43343847 43343847 G A rs11574834 MAP3K14-AS1 0.003 0 0 4 3 0 0.01 0 0 0 0 0 7.717 113194 chr6 42980671 42980671 C A rs751038228 MEA1 Nonsynonymous SNV M120I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 24.7 113195 chr17 45331267 45331267 G A rs115600591 ITGB3 Nonsynonymous SNV V14M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 14.37 113196 chr17 45360734 45360734 C T rs373101628 ITGB3 Synonymous SNV G60G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.012 113197 chr5 167622187 167622187 T G rs114168398 TENM2 Synonymous SNV V697V 0.014 0.023 0.01 2 17 9 0.005 3 1 0 0 0 10.4 113198 chr6 43593549 43593549 C T rs774482572 GTPBP2 Nonsynonymous SNV D63N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.3 113199 chr5 35014171 35014171 G A rs116605914 AGXT2 Synonymous SNV H339H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.998 113200 chr5 168112742 168112742 C G rs144799628 SLIT3 Nonsynonymous SNV V1176L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 22.5 113201 chr5 70808118 70808120 AAG - rs879255413 BDP1 R1371del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 113202 chr15 59041709 59041709 G C rs200508567 ADAM10 Nonsynonymous SNV L9V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.49 113203 chr15 59487722 59487722 G A rs147331478 MYO1E Synonymous SNV P581P 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 10.7 113204 chr5 61876097 61876097 C A rs539071352 LRRC70 Nonsynonymous SNV L278I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 113205 chr3 45266895 45266895 C T TMEM158 Nonsynonymous SNV G209S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.5 113206 chr5 175811299 175811299 C T rs535942388 NOP16 Nonsynonymous SNV R152H 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 113207 chr5 37020764 37020764 T C NIPBL Synonymous SNV F1738F 0.003 0 0 4 4 0 0.01 0 0 0 0 0 5.083 113208 chr15 63986270 63986270 G C rs778692309 HERC1 Nonsynonymous SNV T1856S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.33 113209 chr4 1396912 1396912 G A NKX1-1 Synonymous SNV S385S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.828 113210 chr5 43039618 43039618 G T rs76498907 ANXA2R Nonsynonymous SNV F177L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.22 113211 chr5 72359679 72359679 A G rs375969109 FCHO2 Nonsynonymous SNV T420A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 113212 chr5 49723979 49723979 A G rs147353714 EMB Synonymous SNV T65T 0.009 0 0.003 7 11 0 0.018 1 0 0 0 0 10.41 113213 chr3 47882523 47882523 C T rs750224302 DHX30 Nonsynonymous SNV P175S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.92 113214 chr6 53365063 53365063 G A rs2066509 GCLC Synonymous SNV D483D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 10.11 113215 chr4 151837660 151837660 G C rs143625481 LRBA Nonsynonymous SNV L263V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 113216 chr4 6863748 6863748 T C KIAA0232 Nonsynonymous SNV F547L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.51 113217 chr5 75989244 75989244 G C rs192621142 IQGAP2 Nonsynonymous SNV E820Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 113218 chr5 76732209 76732209 G T rs138249965 WDR41 Nonsynonymous SNV N368K 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 113219 chr5 5464992 5464992 C T rs753732735 ICE1 Nonsynonymous SNV R1849C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 113220 chr15 74032755 74032755 C T rs565532541 INSYN1 Nonsynonymous SNV E129K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 113221 chr5 77425062 77425062 T C rs141789572 AP3B1 Nonsynonymous SNV T525A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.093 113222 chr4 155156412 155156412 G A rs61746132 DCHS2 Nonsynonymous SNV P3131L 0.017 0.005 0.017 5 20 2 0.013 5 0 0 0 0 27.2 113223 chr6 56456995 56456995 T C rs201201114 DST Synonymous SNV Q1673Q 0.01 0.003 0 3 12 1 0.008 0 0 0 0 0 Likely benign 0.023 113224 chr5 192125 192125 G A LRRC14B Nonsynonymous SNV V158I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.6 113225 chr4 15539735 15539735 G C rs16892134 CC2D2A Nonsynonymous SNV V660L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.82 113226 chr5 31526779 31526779 C T rs34318439 DROSHA Synonymous SNV P87P 0.011 0.005 0.014 8 13 2 0.021 4 0 0 0 0 Benign 13.45 113227 chr6 71236360 71236360 G A rs201206743 FAM135A Synonymous SNV S962S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 113228 chr3 50513613 50513613 C T rs41291734 CACNA2D2 Nonsynonymous SNV R75Q 0.004 0.005 0.017 2 5 2 0.005 5 0 0 0 0 Benign 24.4 113229 chr5 80419576 80419576 A C rs34593336 RASGRF2 Synonymous SNV R862R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 7.746 113230 chr3 52029095 52029095 T C RPL29 Nonsynonymous SNV K22R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 113231 chr5 38933303 38933303 A G rs142754631 OSMR Synonymous SNV K899K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.003 113232 chr5 38950084 38950084 G C RICTOR Nonsynonymous SNV P1289R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 25.2 113233 chr5 96506959 96506959 T C rs33996030 RIOK2 Nonsynonymous SNV M244V 0.012 0.013 0.01 6 14 5 0.015 3 0 0 0 0 14.42 113234 chr5 93800684 93800684 A T KIAA0825 Synonymous SNV P651P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 113235 chr6 10586608 10586608 A G rs746183536 GCNT2 Nonsynonymous SNV D129G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.76 113236 chr5 41382092 41382092 C A rs947930888 PLCXD3 Nonsynonymous SNV W216C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 113237 chr5 75914095 75914095 A G rs369675828 F2RL2 Nonsynonymous SNV L124S 0.007 0 0 4 8 0 0.01 0 0 0 0 0 25.2 113238 chr4 175580295 175580295 C T rs200427979 GLRA3 Synonymous SNV V327V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 113239 chr5 43508688 43508688 T C rs373474338 C5orf34 Synonymous SNV E92E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.541 113240 chr6 87994382 87994382 C T rs73754173 GJB7 Nonsynonymous SNV M83I 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 13.27 113241 chr6 88051000 88051000 G A rs11962901 SMIM8 Synonymous SNV G64G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.221 113242 chr6 88074792 88074792 T C rs61740536 C6orf163 Nonsynonymous SNV I223T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.58 113243 chr4 177116593 177116593 C T rs375064660 SPATA4 Nonsynonymous SNV V41I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 113244 chr5 5209322 5209322 G A ADAMTS16 Nonsynonymous SNV G523E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 113245 chr6 108385411 108385411 T C rs137974384 OSTM1 Synonymous SNV T165T 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 Benign 9.194 113246 chr4 18023319 18023333 GCGGCGGCGGCAGCA - rs748702669 LCORL A18_A22del 0.001 0 0 0 1 0 0 0 0 0 0 0 113247 chr6 90371215 90371215 T C rs114646660 MDN1 Nonsynonymous SNV D4883G 0.012 0.013 0.01 4 14 5 0.01 3 0 0 0 0 24.1 113248 chr5 41181578 41181578 T A rs61734263 C6 Synonymous SNV S270S 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 9.418 113249 chr15 87089366 87089366 T C rs371158215 AGBL1 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 113250 chr3 67704991 67704991 G A SUCLG2 Nonsynonymous SNV A7V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 113251 chr17 73814769 73814769 T C UNK Nonsynonymous SNV I473T 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 113252 chr15 89659747 89659747 C T rs772785581 ABHD2 Synonymous SNV T63T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 113253 chr5 55192204 55192204 G A rs779354518 IL31RA Nonsynonymous SNV V248I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.095 113254 chr7 100086318 100086318 C T NYAP1 Nonsynonymous SNV P325L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 113255 chr5 633988 633988 G T CEP72 Nonsynonymous SNV W206L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.2 113256 chr6 109757361 109757361 T C PPIL6 Nonsynonymous SNV I59M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 113257 chr7 100225847 100225847 C T rs139178017 TFR2 Synonymous SNV E320E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.44 113258 chr3 81720013 81720013 G A rs139882066 GBE1 Synonymous SNV L135L 0.007 0 0.003 0 8 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.665 113259 chr3 88188339 88188339 C T rs193026684 ZNF654 Nonsynonymous SNV T394I 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 14.65 113260 chr5 82491718 82491718 G A rs771655215 XRCC4 Nonsynonymous SNV E149K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 113261 chr15 90245124 90245124 G A rs139583177 WDR93 Synonymous SNV E49E 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 5.702 113262 chr6 110759940 110759940 C T rs75035916 SLC22A16 Nonsynonymous SNV V432I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.104 113263 chr4 187455127 187455127 T A rs754074134 MTNR1A Nonsynonymous SNV I257F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 113264 chr4 187539881 187539881 G A FAT1 Nonsynonymous SNV A2620V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 113265 chr15 90799420 90799420 A G rs141226431 TTLL13P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 113266 chr6 119137445 119137445 C A rs78791427 MCM9 Nonsynonymous SNV Q658H 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 Benign 24.1 113267 chr5 56545364 56545364 A G rs150156637 GPBP1 Synonymous SNV E318E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.907 113268 chr6 12122557 12122557 G A rs34520269 HIVEP1 Synonymous SNV P843P 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 Benign 2.632 113269 chr4 2200442 2200442 G C rs374131352 POLN Synonymous SNV T239T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.252 113270 chr15 95398882 95398882 G C rs114588302 LOC440311 0 0 0.082 0 0 0 0 24 0 0 2 0 9.51 113271 chr6 117128159 117128159 C T rs61745784 GPRC6A Nonsynonymous SNV V237M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 25.6 113272 chr15 99798695 99798695 G T HSP90B2P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.574 113273 chr5 112178119 112178119 A G rs758388956 APC Synonymous SNV P2258P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.201 113274 chr5 74807616 74807616 A G rs748340498 CERT1 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.369 113275 chr5 99897880 99897880 A G rs76060686 FAM174A Nonsynonymous SNV N186S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 113276 chr16 11217781 11217781 C T rs201862605 CLEC16A Synonymous SNV R799R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.55 113277 chr17 77711819 77711819 G A rs782454569 ENPP7 Nonsynonymous SNV V451M 0 0 0 2 0 0 0.005 0 0 0 0 0 0.091 113278 chr4 2934205 2934205 G A rs141929492 MFSD10 Nonsynonymous SNV T189I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 113279 chr6 132211530 132211530 G C rs8192683 ENPP1 Nonsynonymous SNV R886T 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 Benign/Likely benign 11.26 113280 chr4 2951903 2951903 T C NOP14 Nonsynonymous SNV E347G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 113281 chr6 107035582 107035582 C G rs145695118 RTN4IP1 Nonsynonymous SNV G221A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23 113282 chr16 1251839 1251839 C T rs375590164 CACNA1H Synonymous SNV Y463Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 113283 chr6 132892196 132892196 A T TAAR6 Stop gain K246X 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 38 113284 chr16 12662437 12662437 G A SNX29 Nonsynonymous SNV G798D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 113285 chr6 108499349 108499349 G A rs2233494 NR2E1 Synonymous SNV T219T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 113286 chr4 3076613 3076615 CAG - HTT Q38del 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 113287 chr17 78261847 78261847 G A rs369472436 RNF213 Synonymous SNV A165A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 7.703 113288 chr6 133072524 133072524 C T rs143391510 VNN2 Stop gain W320X 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 37 113289 chr6 13316909 13316909 G T rs80189640 TBC1D7, TBC1D7-LOC100130357 Nonsynonymous SNV A111D 0.003 0.01 0.007 2 4 4 0.005 2 0 0 0 0 Likely benign 29.5 113290 chr17 78316985 78316985 G A rs772105432 RNF213 Nonsynonymous SNV V2015M 0 0.003 0 3 0 1 0.008 0 0 0 0 0 1.502 113291 chr4 3255060 3255060 G A rs774932231 MSANTD1 Synonymous SNV P149P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 113292 chr6 135239758 135239758 G C rs41286234 ALDH8A1 Nonsynonymous SNV A370G 0.007 0.016 0.003 5 8 6 0.013 1 0 0 0 0 12.61 113293 chr6 130762113 130762113 C T rs139970487 TMEM200A Synonymous SNV N182N 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 8.609 113294 chr6 135715953 135715953 C T rs750383545 AHI1 Nonsynonymous SNV A1024T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 6.192 113295 chr6 109803084 109803084 C T rs147441359 ZBTB24 Nonsynonymous SNV R49Q 0.005 0.003 0.027 1 6 1 0.003 8 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 113296 chr5 79773067 79773067 A C ZFYVE16 Nonsynonymous SNV Q1497H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.362 113297 chr17 79662950 79662950 C T rs148054575 HGS Synonymous SNV A438A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.92 113298 chr6 144838064 144838064 A G UTRN Nonsynonymous SNV T1841A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 113299 chr4 122059832 122059832 T C rs567234794 TNIP3 Nonsynonymous SNV Y298C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 113300 chr4 41634826 41634826 G A rs187942563 LIMCH1 Synonymous SNV P554P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.891 113301 chr7 100648051 100648051 C G rs749821689 MUC12 Nonsynonymous SNV A4736G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.43 113302 chr7 100683676 100683676 T G rs747930581 MUC17 Synonymous SNV S2993S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.206 113303 chr7 100684989 100684989 C G rs190089107 MUC17 Nonsynonymous SNV T3431S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.122 113304 chr5 89979523 89979523 G T rs41311335 ADGRV1 Nonsynonymous SNV A1929S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 113305 chr7 100731638 100731638 C T rs77167460 TRIM56 Nonsynonymous SNV L349F 0.02 0.008 0.02 4 24 3 0.01 6 0 0 0 0 5.786 113306 chr6 118803044 118803044 G C rs371924081 CEP85L Nonsynonymous SNV T548R 0.003 0 0 0 4 0 0 0 0 0 0 0 23.3 113307 chr17 80395188 80395188 G A HEXD Nonsynonymous SNV G191D 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.131 113308 chr17 80404516 80404516 T C rs148042402 CYBC1 Nonsynonymous SNV N48D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.9 113309 chr7 101844927 101844927 C G rs368180302 CUX1 Nonsynonymous SNV L795V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.23 113310 chr17 80789269 80789269 G A rs34188981 ZNF750 Synonymous SNV T354T 0.009 0.005 0.02 11 11 2 0.028 6 0 0 0 0 5.127 113311 chr17 80842024 80842024 A C rs112420156 TBCD Synonymous SNV A493A 0.009 0.005 0.017 10 10 2 0.026 5 0 0 0 0 0.008 113312 chr5 94027854 94027854 G A SLF1 Nonsynonymous SNV R863H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 113313 chr5 140038340 140038340 A G rs34282994 IK Nonsynonymous SNV K310R 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 22.8 113314 chr7 117171044 117171044 A G rs377295859 CFTR Nonsynonymous SNV Y122C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.4 113315 chr16 24919372 24919372 C T SLC5A11 Stop gain Q382X 0 0 0.003 0 0 0 0 1 0 0 0 0 45 113316 chr4 144616649 144616649 G C FREM3 Nonsynonymous SNV T1727R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 113317 chr5 140182120 140182120 C T rs114741177 PCDHA3 Synonymous SNV A446A 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 16.08 113318 chr5 140210033 140210033 C T rs150956127 PCDHA6 Nonsynonymous SNV A786V 0.012 0.016 0.01 5 14 6 0.013 3 0 0 0 0 10.14 113319 chr6 133073643 133073643 A G VNN2 Synonymous SNV N261N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.639 113320 chr4 15005160 15005160 C T rs765638810 CPEB2 Nonsynonymous SNV A288V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 113321 chr6 137322896 137322896 G T rs368530776 IL20RA Synonymous SNV G376G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.79 113322 chr6 157099217 157099217 T C ARID1B Nonsynonymous SNV S52P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 113323 chr18 8784315 8784315 G A rs201398082 MTCL1 Nonsynonymous SNV R402H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 113324 chr7 123672460 123672462 GCT - TMEM229A Q200del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 113325 chr6 158850899 158850899 G A rs138932674 TULP4 Synonymous SNV T171T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 113326 chr7 127894640 127894640 G A rs1800564 LEP Nonsynonymous SNV V110M 0.003 0.005 0.003 6 4 2 0.015 1 0 0 0 0 11.85 113327 chr16 29827875 29827875 C T rs368639575 PAGR1 Nonsynonymous SNV T10I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.259 113328 chr6 146271476 146271476 A G rs6900607 SHPRH Synonymous SNV P302P 0.007 0.005 0.02 2 8 2 0.005 6 0 0 0 0 2.467 113329 chr18 12720638 12720638 C T rs78701021 PSMG2 Synonymous SNV I179I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.36 113330 chr6 110301330 110301330 G A rs766559161 GPR6 Nonsynonymous SNV A339T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 113331 chr6 111680080 111680080 T C REV3L Synonymous SNV K2339K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.202 113332 chr6 161491684 161491684 G T rs34018542 MAP3K4 Nonsynonymous SNV Q584H 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 15.05 113333 chr16 30793774 30793774 G A rs762042472 ZNF629 Synonymous SNV S625S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 113334 chr7 130138040 130138040 C T rs61735155 MEST Synonymous SNV L120L 0.003 0.005 0.007 4 4 2 0.01 2 0 0 0 0 13.85 113335 chr4 156831299 156831299 A G rs138036577 TDO2 Nonsynonymous SNV K185R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.52 113336 chr6 117086657 117086657 G T FAM162B Nonsynonymous SNV T28K 0.003 0 0 0 3 0 0 0 0 0 0 0 4.442 113337 chr6 168303035 168303035 T C rs200915346 AFDN Nonsynonymous SNV I524T 0.002 0.008 0.003 3 2 3 0.008 1 0 0 0 0 16.05 113338 chr6 168366482 168366482 C T rs200850120 AFDN Nonsynonymous SNV R1648C 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 22.4 113339 chr18 25593815 25593815 T A rs148115828 CDH2 Synonymous SNV A46A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 11.62 113340 chr6 117866721 117866721 A T rs116943808 DCBLD1 Nonsynonymous SNV R496S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.053 113341 chr4 166951608 166951608 G A TLL1 Nonsynonymous SNV V388I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.071 113342 chr5 145718788 145718788 C A rs762622438 POU4F3 Nonsynonymous SNV A38D 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 24.4 113343 chr6 121602832 121602832 T A rs201652810 TBC1D32 Nonsynonymous SNV E489V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.7 113344 chr6 167753993 167753993 T C rs6936639 TTLL2 Nonsynonymous SNV L202P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.041 113345 chr6 168352076 168352076 G A AFDN Nonsynonymous SNV G1324S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 113346 chr6 168366592 168366592 C T AFDN Synonymous SNV P1658P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 113347 chr6 168461663 168461663 T C rs57906677 FRMD1 Nonsynonymous SNV S306G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.06 113348 chr6 155504468 155504468 C T rs371630758 TIAM2 Synonymous SNV V966V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.66 113349 chr6 168708501 168708501 C A rs73789362 DACT2 Nonsynonymous SNV G476C 0.007 0.003 0.014 1 8 1 0.003 4 0 0 0 0 22.3 113350 chr6 168708887 168708887 A G rs79931308 DACT2 Nonsynonymous SNV L347P 0.007 0.003 0.017 1 8 1 0.003 5 0 0 0 0 0.025 113351 chr6 168709728 168709728 C T rs117378794 DACT2 Nonsynonymous SNV A67T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 0.002 113352 chr7 141490325 141490325 G A rs147887777 TAS2R5 Nonsynonymous SNV R55Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.9 113353 chr16 48221232 48221232 G C rs55713504 ABCC11 Stop gain S938X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 35 113354 chr4 79791972 79791972 T C rs371557810 BMP2K Synonymous SNV L423L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 113355 chr6 17129402 17129402 C G rs189145559 STMND1 Nonsynonymous SNV I157M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.96 113356 chr16 50711318 50711318 G A rs148806258 SNX20 Synonymous SNV D40D 0 0 0.007 0 0 0 0 2 0 0 0 0 1.643 113357 chr18 42531179 42531179 G A rs537693683 SETBP1 Nonsynonymous SNV R625Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 113358 chr16 50745655 50745655 C T rs61736932 NOD2 Synonymous SNV A584A 0.004 0.016 0.007 1 5 6 0.003 2 0 0 0 0 Benign/Likely benign 5.841 113359 chr7 142562052 142562054 CCT - rs764828501 EPHB6 S176del 0.01 0.016 0.014 3 12 6 0.008 4 0 0 0 0 113360 chr7 142562054 142562054 - CCTCCT EPHB6 S176_A177insSS 0.001 0 0 0 1 0 0 0 0 0 0 0 113361 chr16 5078938 5078938 C A rs757635332 NAGPA Nonsynonymous SNV G288V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 113362 chr4 184190300 184190300 G A rs149307334 WWC2 Nonsynonymous SNV R795Q 0.003 0 0 0 4 0 0 0 0 0 0 0 13.38 113363 chr16 53692703 53692703 C T rs76600508 RPGRIP1L Nonsynonymous SNV R444H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.3 113364 chr18 44595922 44595922 C T rs140833601 KATNAL2 Nonsynonymous SNV A176V 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 34 113365 chr6 135307941 135307941 C T HBS1L Stop gain W371X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 43 113366 chr6 26408057 26408057 G A rs151227699 BTN3A1 Nonsynonymous SNV G146R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.757 113367 chr6 27115293 27115293 A G rs199635344 H2AC12 Synonymous SNV X129X 0.005 0.016 0 0 6 6 0 0 0 1 0 0 3.077 113368 chr6 138617990 138617990 G A rs373574000 ARFGEF3 Synonymous SNV L1182L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.18 113369 chr6 25652682 25652682 C T rs34355491 SCGN Synonymous SNV F17F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.14 113370 chr6 28093600 28093600 G A rs745465985 ZSCAN16 Nonsynonymous SNV G127R 0.005 0.016 0 0 6 6 0 0 0 1 0 0 10.8 113371 chr4 87744883 87744883 G C rs139158966 SLC10A6 Nonsynonymous SNV H364Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.393 113372 chr4 87968515 87968515 G T rs2230857 AFF1 Synonymous SNV P269P 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 0.786 113373 chr6 146243961 146243961 C T rs201651828 SHPRH Nonsynonymous SNV C1186Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.5 113374 chr6 147045454 147045454 T G rs984403819 ADGB Nonsynonymous SNV L743R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 113375 chr7 149500582 149500582 G A rs199889455 SSPO 0.003 0.008 0 0 3 3 0 0 0 0 0 0 1.663 113376 chr6 149771969 149771969 G A rs532395715 ZC3H12D Synonymous SNV R478R 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 9.971 113377 chr7 150068613 150068613 C T rs202007453 REPIN1 Nonsynonymous SNV R95C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 113378 chr4 90035063 90035063 A G rs141020619 TIGD2 Nonsynonymous SNV K313R 0.003 0 0 0 3 0 0 0 0 0 0 0 18.53 113379 chr16 593277 593277 T G rs8054514 MIR3176 0 0 0.136 0 0 0 0 40 0 0 2 0 4.588 113380 chr4 20570488 20570488 G T rs747641502 SLIT2 Nonsynonymous SNV W979C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 113381 chr4 94693546 94693546 T A rs144455304 GRID2 Nonsynonymous SNV F879Y 0.005 0.003 0 0 6 1 0 0 0 0 0 0 28 113382 chr18 56246784 56246784 T C rs780341270 ALPK2 Synonymous SNV Q408Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.18 113383 chr6 151152863 151152863 G T PLEKHG1 Synonymous SNV L833L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.037 113384 chr7 150644514 150644514 G T KCNH2 Synonymous SNV P678P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.314 113385 chr7 150864253 150864261 GCGGCGGCA - rs756243397 GBX1 A128_A130del 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 113386 chr7 150934493 150934493 G A rs145943901 CHPF2 Nonsynonymous SNV E349K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 113387 chr6 170064278 170064278 C A WDR27 Synonymous SNV G169G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 15.9 113388 chr7 150934924 150934924 G A rs148167405 CHPF2 Synonymous SNV V492V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.038 113389 chr7 150934986 150934986 A G rs201112871 CHPF2 Nonsynonymous SNV N513S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 1.48 113390 chr6 34392507 34392507 C T rs781484971 RPS10, RPS10-NUDT3 Synonymous SNV P87P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 16.2 113391 chr18 61077645 61077645 G C rs17688948 VPS4B Nonsynonymous SNV I58M 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 25.1 113392 chr7 1517401 1517401 G A rs367716242 INTS1 Nonsynonymous SNV A1601V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.023 113393 chr7 151874050 151874050 T G rs147851738 KMT2C Nonsynonymous SNV N2830H 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 not provided 0.143 113394 chr7 151878907 151878907 C T rs573962770 KMT2C Nonsynonymous SNV R2013K 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 24.4 113395 chr18 61233907 61233907 C T rs61751994 SERPINB12 Nonsynonymous SNV S314L 0.011 0.021 0.027 9 13 8 0.023 8 0 0 0 0 6.943 113396 chr18 61234004 61234004 G C rs61751995 SERPINB12 Synonymous SNV T346T 0.011 0.021 0.027 9 13 8 0.023 8 0 0 0 0 5.219 113397 chr16 70515671 70515671 T C rs745874355 COG4 Nonsynonymous SNV N676S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 113398 chr5 102894989 102894989 T C rs901860909 NUDT12 Synonymous SNV K111K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.344 113399 chr4 3076663 3076663 A G rs473915 HTT Synonymous SNV Q37Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.028 113400 chr6 35965587 35965587 G A rs116074606 SLC26A8 Synonymous SNV P185P 0.014 0.023 0 0 16 9 0 0 0 0 0 0 Benign 0.744 113401 chr16 71683863 71683863 T C rs143949615 PHLPP2 Nonsynonymous SNV I901V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.078 113402 chr16 71703205 71703205 T C rs151177503 PHLPP2 Nonsynonymous SNV Y534C 0.005 0.003 0.014 4 6 1 0.01 4 0 0 0 0 25.5 113403 chr6 36368358 36368358 T C rs780235121 PXT1 Nonsynonymous SNV H58R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.918 113404 chr16 72137671 72137671 G A rs780828640 DHX38 Nonsynonymous SNV G603E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 113405 chr6 25605057 25605057 C T rs530218810 CARMIL1 Synonymous SNV A1190A 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 19.99 113406 chr7 158534576 158534576 G A rs780677876 ESYT2 Synonymous SNV L581L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.866 113407 chr7 158580715 158580715 T C rs554917145 ESYT2 Nonsynonymous SNV I243V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 113408 chr16 72992292 72992292 C T rs140602496 ZFHX3 Nonsynonymous SNV G585S 0.007 0.021 0.007 1 8 8 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.27 113409 chr16 72992763 72992763 T G rs16971436 ZFHX3 Nonsynonymous SNV T428P 0.009 0.021 0.01 4 11 8 0.01 3 0 0 0 0 19.9 113410 chr6 37623584 37623584 A G rs61749283 MDGA1 Synonymous SNV C157C 0.011 0.008 0.01 1 13 3 0.003 3 0 0 0 0 0.43 113411 chr7 158823368 158823368 A G rs548150495 VIPR2 Nonsynonymous SNV L403P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 113412 chr7 158835780 158835780 G A rs7792767 VIPR2 Synonymous SNV D165D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 1.612 113413 chr18 67715248 67715248 T C rs200169343 RTTN Nonsynonymous SNV N922D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.08 113414 chr4 39436129 39436129 A T rs984923563 KLB Synonymous SNV G375G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.048 113415 chr6 38790629 38790629 C G DNAH8 Nonsynonymous SNV A963G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.79 113416 chr6 26273234 26273234 C G rs147739816 H2BC10 Nonsynonymous SNV P11A 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 5.883 113417 chr6 26365566 26365566 T C rs908867638 BTN3A2 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.086 113418 chr5 118468907 118468907 A C rs142000355 DMXL1 Nonsynonymous SNV S466R 0.017 0 0.02 3 20 0 0.008 6 0 0 0 0 Benign 8.012 113419 chr6 39040656 39040656 G A rs866849283 GLP1R Synonymous SNV R176R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.3 113420 chr6 401464 401464 C T rs41301855 IRF4 Synonymous SNV L261L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Likely benign 14.05 113421 chr18 73000131 73000131 G A rs35073557 TSHZ1 Synonymous SNV P923P 0 0 0 3 0 0 0.008 0 0 0 0 0 3.289 113422 chr7 21882209 21882209 G A rs34879202 DNAH11 Nonsynonymous SNV R3580H 0.006 0 0.003 0 7 0 0 1 0 0 0 0 Benign 26.9 113423 chr5 123984689 123984689 C G rs149952656 ZNF608 Nonsynonymous SNV G463A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 113424 chr6 161455395 161455395 C G rs150383557 MAP3K4 Nonsynonymous SNV P86R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 113425 chr5 127730953 127730953 T C FBN2 Nonsynonymous SNV M365V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.44 113426 chr16 81641220 81641220 G A rs772246525 CMIP Nonsynonymous SNV V23I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 113427 chr19 373470 373470 C T rs141266151 THEG Nonsynonymous SNV A165T 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 14.81 113428 chr6 42641925 42641925 T C rs140224621 UBR2 Synonymous SNV H1415H 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 0.441 113429 chr16 82101898 82101898 C T rs746830945 HSD17B2 Nonsynonymous SNV P130L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.253 113430 chr6 43190293 43190293 C T rs143984539 CUL9 Nonsynonymous SNV R2316W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28.5 113431 chr6 43252845 43252845 C G rs142158879 TTBK1 Nonsynonymous SNV P1233A 0.009 0.021 0.02 6 10 8 0.015 6 1 1 0 0 4.698 113432 chr16 84209793 84209793 C T rs766434597 DNAAF1 Synonymous SNV S415S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 113433 chr6 43480020 43480020 G A rs200381174 YIPF3 Nonsynonymous SNV P313L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 113434 chr4 520938 520938 G A rs201842856 PIGG Nonsynonymous SNV G594E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 31 113435 chr6 43469358 43469358 G A rs146174516 TJAP1 Nonsynonymous SNV D75N 0.02 0.016 0.007 3 24 6 0.008 2 0 0 0 0 25.1 113436 chr5 133984836 133984836 T C rs575779367 SEC24A Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 113437 chr5 134153401 134153401 A G rs181271137 DDX46 Synonymous SNV P943P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.526 113438 chr4 57176883 57176883 A G rs549421766 CRACD Nonsynonymous SNV S113G 0.003 0 0 0 4 0 0 0 0 0 0 0 18.81 113439 chr16 86371074 86371074 C T rs200044193 LINC00917 0 0 0.007 0 0 0 0 2 0 0 0 0 5.439 113440 chr6 45480095 45480095 A T rs757437094 RUNX2 Synonymous SNV T310T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.207 113441 chr16 87365095 87365095 G A rs149716965 FBXO31 Synonymous SNV I473I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.68 113442 chr6 170871047 170871073 CAGCAGCAGCAGCAGCAGCAGCAGCAG - TBP Q67_Q75del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 113443 chr6 46656303 46656303 G A rs747536212 TDRD6 Synonymous SNV P146P 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 0.435 113444 chr5 13766150 13766150 T C rs141971313 DNAH5 Nonsynonymous SNV T3346A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.005 113445 chr6 24476437 24476437 C T rs61754636 GPLD1 Nonsynonymous SNV R101Q 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 33 113446 chr5 33988285 33988285 T A C1QTNF3-AMACR 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.66 113447 chr19 1360335 1360335 C - PWWP3A R72Afs*90 0 0 0 1 0 0 0.003 0 0 0 0 0 113448 chr5 139936825 139936825 G C rs35610885 SRA1 Nonsynonymous SNV Q32E 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 27 113449 chr6 51824680 51824680 G A rs1266923 PKHD1 Synonymous SNV L1966L 0.009 0.013 0.007 6 10 5 0.015 2 0 0 0 0 Benign 3.825 113450 chr6 42227183 42227183 C T rs201484047 TRERF1 Synonymous SNV S741S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.72 113451 chr6 51611651 51611651 C A rs148932323 PKHD1 Nonsynonymous SNV S3289I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 113452 chr4 69962959 69962959 G A rs372168240 UGT2B7 Nonsynonymous SNV G241R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 113453 chr6 5369409 5369409 G A rs17851782 FARS2 Synonymous SNV K202K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 8.584 113454 chr6 24596675 24596675 C A rs201302072 KIAA0319 Nonsynonymous SNV R31L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.1 113455 chr7 43482188 43482188 G A rs186034589 HECW1 Synonymous SNV Q335Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.501 113456 chr4 71498376 71498376 G T rs2609429 ENAM Synonymous SNV R59R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 7.555 113457 chr4 71509069 71509069 C T rs6813313 ENAM Synonymous SNV T424T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.046 113458 chr6 2948613 2948613 G A rs201048748 SERPINB6 Synonymous SNV C364C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.01 113459 chr7 44302652 44302652 G A CAMK2B Synonymous SNV L58L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.03 113460 chr6 56965823 56965823 C A ZNF451 Nonsynonymous SNV S203R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 113461 chr4 74005954 74005954 C A ANKRD17 Nonsynonymous SNV Q680H 0.003 0 0 0 4 0 0 0 0 0 0 0 19.4 113462 chr16 89650167 89650167 G A CPNE7 Synonymous SNV K140K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 113463 chr16 89704598 89704598 G A rs140890523 DPEP1 Nonsynonymous SNV A402T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.29 113464 chr7 45148837 45148837 G - rs36007488 TBRG4 M12Wfs*6 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 113465 chr16 89784268 89784274 GCCCCGA - rs754398755 VPS9D1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 113466 chr16 89784278 89784336 CTGTGATCCCACGTCCAGGGGCTCCCCCGACCTCTGTGATCCCACGTCCAGTGGCTCCC - VPS9D1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 113467 chr19 3771759 3771759 C G rs200711581 RAX2 Synonymous SNV P40P 0 0 0 4 0 0 0.01 0 0 0 0 0 1.757 113468 chr5 140769083 140769083 G C rs200072718 PCDHGB4 Synonymous SNV V544V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.504 113469 chr6 70639473 70639473 A G rs146015062 COL19A1 Nonsynonymous SNV I183V 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 0.001 113470 chr19 3834863 3834863 C T rs61747120 ZFR2 Nonsynonymous SNV G58S 0.013 0.013 0.007 5 15 5 0.013 2 0 0 0 0 0.01 113471 chr16 90095673 90095673 C T rs141306543 GAS8-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.591 113472 chr5 141029463 141029463 A G rs376137825 FCHSD1 Nonsynonymous SNV M75T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.884 113473 chr19 4429469 4429469 G A rs201513692 CHAF1A Nonsynonymous SNV G547S 0 0 0 4 0 0 0.01 0 0 0 0 0 9.555 113474 chr5 141244360 141244360 C T rs370294963 PCDH1 Synonymous SNV E133E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.387 113475 chr17 11671913 11671913 G C rs2277658 DNAH9 Nonsynonymous SNV Q2438H 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 19.06 113476 chr5 56778373 56778373 G A rs367804790 ACTBL2 Synonymous SNV Y54Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 113477 chr5 59189324 59189324 C T PDE4D Synonymous SNV P42P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 113478 chr6 83845388 83845388 G T rs200255523 DOP1A Nonsynonymous SNV S965I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 113479 chr17 1585524 1585524 C T PRPF8 Synonymous SNV E111E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 113480 chr19 4852061 4852061 C T rs200162348 PLIN3 Nonsynonymous SNV D201N 0 0 0 4 0 0 0.01 0 0 0 0 0 27.6 113481 chr6 78471010 78471010 A G MEI4 Synonymous SNV P132P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.035 113482 chr5 148406435 148406435 G A rs80338933 SH3TC2 Stop gain R954X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 37 113483 chr19 5131521 5131521 C T rs148763203 KDM4B Nonsynonymous SNV R584C 0 0 0 4 0 0 0.01 0 0 0 0 0 20.6 113484 chr6 88372813 88372813 C T rs61747273 ORC3 Nonsynonymous SNV P452L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 113485 chr6 41001863 41001863 G A rs144296989 UNC5CL Nonsynonymous SNV S148L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.39 113486 chr7 55914251 55914251 C G rs146350220 SEPTIN14 Nonsynonymous SNV R45T 0.011 0.005 0.007 7 13 2 0.018 2 0 0 0 0 19.41 113487 chr4 8594585 8594585 C T CPZ Nonsynonymous SNV L9F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.79 113488 chr6 41029530 41029530 T C rs114127156 APOBEC2 Nonsynonymous SNV S199P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 15.79 113489 chr6 41126655 41126655 A G rs2234256 TREM2 Nonsynonymous SNV L211P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 0.021 113490 chr6 41129105 41129105 G T rs2234253 TREM2 Nonsynonymous SNV T96K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 24.8 113491 chr19 5785696 5785696 C T rs758790438 DUS3L Nonsynonymous SNV G315S 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 31 113492 chr6 70071204 70071204 C G ADGRB3 Nonsynonymous SNV P1347A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.33 113493 chr6 89322504 89322504 A C rs140464652 RNGTT Nonsynonymous SNV H493Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.36 113494 chr4 88035662 88035662 G A rs146182456 AFF1 Synonymous SNV T190T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.88 113495 chr4 88226396 88226396 C T rs561779096 HSD17B13 Nonsynonymous SNV V257I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.377 113496 chr5 73981299 73981299 C T rs147155126 HEXB Nonsynonymous SNV L72F 0.008 0.008 0.003 4 9 3 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 113497 chr17 18180996 18180996 G A rs140837737 TOP3A Synonymous SNV T845T 0.009 0 0.007 1 11 0 0.003 2 0 0 0 0 Likely benign 11.51 113498 chr17 1960411 1960411 G A HIC1 Nonsynonymous SNV G162S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.87 113499 chr7 100465733 100465733 C T TRIP6 Nonsynonymous SNV L81F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 113500 chr7 73279685 73279685 G A rs200982533 TMEM270 Synonymous SNV L145L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.226 113501 chr7 73483017 73483017 G A rs782197482 ELN Nonsynonymous SNV R614Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 113502 chr4 983684 983684 A G rs148386572 SLC26A1 Nonsynonymous SNV L348P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 24.4 113503 chr6 39554149 39554149 G A rs755557178 KIF6 Nonsynonymous SNV S293L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.6 113504 chr6 41010729 41010729 G A rs756026828 TSPO2 Nonsynonymous SNV R2Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.093 113505 chr5 80631664 80631664 G A rs141642570 ACOT12 Synonymous SNV H395H 0.006 0.005 0 0 7 2 0 0 0 0 0 0 7.278 113506 chr5 112179320 112179320 G A rs750174880 APC Nonsynonymous SNV G2659S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.5 113507 chr17 27380006 27380006 C T rs181734596 PIPOX Nonsynonymous SNV S111L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 113508 chr17 27958275 27958275 G T rs145914064 SSH2 Nonsynonymous SNV L1286I 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 17.63 113509 chr6 97345567 97345567 G A rs139675421 NDUFAF4 Synonymous SNV N37N 0.01 0.005 0.007 9 12 2 0.023 2 0 0 0 0 Benign/Likely benign 1.027 113510 chr5 172517896 172517896 A G rs55729857 CREBRF Synonymous SNV A238A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 1.027 113511 chr6 44221254 44221254 G A rs147654952 HSP90AB1 Synonymous SNV E698E 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 13.43 113512 chr6 56484783 56484783 G A rs45472691 DST Nonsynonymous SNV T1350M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.089 113513 chr7 94903220 94903220 A G rs751775613 PPP1R9A Nonsynonymous SNV K1005R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.641 113514 chr5 176931120 176931120 T A DOK3 Nonsynonymous SNV Q396L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 113515 chr6 64488001 64488001 T C rs74636274 EYS Nonsynonymous SNV H2599R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.14 113516 chr19 9048362 9048362 A G rs200066280 MUC16 Nonsynonymous SNV V11090A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.312 113517 chr7 99017602 99017602 A G rs146460719 ATP5MF-PTCD1, PTCD1 Synonymous SNV L697L 0.012 0.005 0.003 4 14 2 0.01 1 0 0 0 0 0.075 113518 chr5 178408807 178408807 A C rs145930962 GRM6 Nonsynonymous SNV S829A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 15.52 113519 chr6 109761792 109761792 A G PPIL6 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 113520 chr5 134871120 134871120 G A rs375837000 NEUROG1 Synonymous SNV H87H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.882 113521 chr7 99767857 99767857 C T rs538022806 GPC2 Nonsynonymous SNV R579Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 113522 chr17 34958533 34958533 A G rs145987678 MRM1 Synonymous SNV P98P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 1.922 113523 chr5 134871150 134871150 C T rs763680675 NEUROG1 Synonymous SNV R77R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.32 113524 chr6 49663582 49663582 C T rs199708138 CRISP2 Nonsynonymous SNV G191S 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 22.3 113525 chr6 7405508 7405508 G A rs56067778 RIOK1 Nonsynonymous SNV V271I 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 20.1 113526 chr19 9065137 9065137 A G rs770726590 MUC16 Synonymous SNV L7437L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.067 113527 chr6 74521978 74521978 A G rs201727245 CD109 Synonymous SNV G1174G 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 10.74 113528 chr5 13721277 13721277 C T rs771256143 DNAH5 Synonymous SNV E4037E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 113529 chr8 103293720 103293720 T C rs761393805 UBR5 Synonymous SNV Q1908Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.746 113530 chr6 112460977 112460977 G A rs146880158 LAMA4 Synonymous SNV P1029P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.25 113531 chr17 37922622 37922622 G A rs115944615 IKZF3 Synonymous SNV A70A 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 4.908 113532 chr6 80196903 80196903 T C rs371962473 LCA5 Nonsynonymous SNV N638D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 0.333 113533 chr5 21854787 21854787 G C rs112146213 CDH12 Synonymous SNV P213P 0.009 0.003 0.007 5 10 1 0.013 2 0 0 0 0 Benign 3.968 113534 chr6 116864998 116864998 G A rs117750891 CALHM4 Nonsynonymous SNV E8K 0.01 0.013 0.007 1 12 5 0.003 2 0 0 0 0 1.529 113535 chr6 83869540 83869540 C T rs761041314 DOP1A Synonymous SNV L2266L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 13.92 113536 chr5 139219752 139219752 C T rs370407462 PSD2 Synonymous SNV F703F 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.56 113537 chr6 116987961 116987961 C T rs140797289 ZUP1 Nonsynonymous SNV S132N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.835 113538 chr6 56497676 56497676 C G DST Nonsynonymous SNV E724Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 113539 chr5 31799444 31799444 C T rs200755574 PDZD2 Nonsynonymous SNV P30L 0.002 0 0 0 2 0 0 0 0 0 0 0 32 113540 chr17 38609293 38609293 C T IGFBP4 Nonsynonymous SNV R136C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 113541 chr17 38813654 38813654 G C KRT222 Nonsynonymous SNV I203M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.562 113542 chr6 117243245 117243245 T G RFX6 Synonymous SNV L456L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.541 113543 chr7 106840668 106840668 C T rs538604670 HBP1 Synonymous SNV Y493Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.24 113544 chr6 66063381 66063381 A G rs190219726 EYS Nonsynonymous SNV F477L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.009 113545 chr8 107773280 107773280 A C rs111803056 ABRA Nonsynonymous SNV I377M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.8 113546 chr7 100800682 100800682 C T rs192601589 AP1S1 Synonymous SNV C69C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.9 113547 chr7 107704244 107704244 G A rs200188661 LAMB4 Nonsynonymous SNV P1008L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.3 113548 chr7 107706958 107706958 C T rs199518603 LAMB4 Nonsynonymous SNV R845H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 18.64 113549 chr8 11415492 11415492 A C rs77401687 BLK Nonsynonymous SNV K254T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 25 113550 chr6 90448080 90448080 C T rs377690274 MDN1 Nonsynonymous SNV R1563H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 113551 chr7 112724299 112724299 C T rs750487304 GPR85 Nonsynonymous SNV V160M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 113552 chr7 106938689 106938689 T C rs189560910 COG5 Nonsynonymous SNV Q435R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 113553 chr7 11676065 11676065 G C rs2074599 THSD7A Nonsynonymous SNV F238L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.074 113554 chr7 100173390 100173390 G C LRCH4 Nonsynonymous SNV L598V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.9 113555 chr7 100463997 100463997 G A rs112307620 SLC12A9 Nonsynonymous SNV A696T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.28 113556 chr5 140802564 140802564 C T rs114907564 PCDHGA11 Synonymous SNV T590T 0.008 0.003 0.007 8 9 1 0.021 2 0 0 0 0 6.239 113557 chr7 120906290 120906290 A T rs887265003 CPED1 Nonsynonymous SNV I774F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 113558 chr7 122788548 122788548 G A rs867965379 SLC13A1 Nonsynonymous SNV T67I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.578 113559 chr7 103214642 103214642 C T rs143213152 RELN Nonsynonymous SNV V1470I 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Benign/Likely benign 12.56 113560 chr5 14369547 14369547 C T TRIO Nonsynonymous SNV A1044V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 113561 chr7 104703857 104703857 C G rs149314039 KMT2E Synonymous SNV V82V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.718 113562 chr7 128506733 128506733 G A rs1015632752 ATP6V1FNB Synonymous SNV P90P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.15 113563 chr7 107427866 107427866 A G rs142128989 SLC26A3 Nonsynonymous SNV V275A 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 18.4 113564 chr7 129102872 129102872 G A rs138088370 STRIP2 Synonymous SNV P514P 0 0.005 0 0 0 2 0 0 0 0 0 0 9.188 113565 chr7 1272831 1272831 G A rs567702156 UNCX Nonsynonymous SNV G60S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.947 113566 chr17 40837287 40837287 G A rs144554326 CNTNAP1 Synonymous SNV P188P 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 Benign 13.07 113567 chr17 41031723 41031723 G A rs199905955 LINC00671 0 0 0.003 0 0 0 0 1 0 0 0 0 5.707 113568 chr19 13941075 13941075 C T rs112261548 ZSWIM4 Synonymous SNV I727I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.53 113569 chr7 128502972 128502972 G T rs147175274 ATP6V1F Nonsynonymous SNV G5V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 113570 chr19 14829706 14829706 G A rs746332613 ZNF333 Nonsynonymous SNV V292M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 113571 chr7 129367090 129367090 C T rs149764867 NRF1 Synonymous SNV A250A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign 17.99 113572 chr19 14875362 14875362 G A rs200037098 ADGRE2 Nonsynonymous SNV R323C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 113573 chr5 149576322 149576322 C G rs374861204 SLC6A7 Synonymous SNV G87G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 11.35 113574 chr8 142367378 142367378 T C GPR20 Nonsynonymous SNV T216A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.47 113575 chr7 121680898 121680898 G A rs776923472 PTPRZ1 Nonsynonymous SNV R1022H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 113576 chr5 60186734 60186734 T C rs138173863 ERCC8 Synonymous SNV V188V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.299 113577 chr8 144512135 144512135 G A MAFA Nonsynonymous SNV H148Y 0.005 0 0 1 6 0 0.003 0 0 0 0 0 5.367 113578 chr8 144620837 144620837 C T rs150666715 ZC3H3 Nonsynonymous SNV A234T 0.009 0 0 1 11 0 0.003 0 0 0 0 0 0.001 113579 chr5 64181335 64181335 T G rs199774142 CWC27 Nonsynonymous SNV V335G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.063 113580 chr5 64181337 64181337 G A rs371261961 CWC27 Nonsynonymous SNV E336K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 113581 chr17 4448398 4448412 CCTCGCTCTCCTCCC - rs371461187 MYBBP1A G740_E744del 0 0 0.003 0 0 0 0 1 0 0 0 0 113582 chr5 66480134 66480134 A G rs150956071 CD180 Synonymous SNV D179D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.239 113583 chr19 16024595 16024595 C T rs199856210 CYP4F11 Nonsynonymous SNV A508T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.06 113584 chr5 153026610 153026610 G A rs754902232 GRIA1 Nonsynonymous SNV V115I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.51 113585 chr19 16035680 16035680 G A rs148197835 CYP4F11 Nonsynonymous SNV R180C 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.6 113586 chr7 141734168 141734168 C T rs191698936 MGAM Synonymous SNV V592V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.01 113587 chr7 127992631 127992631 C T rs374134322 PRRT4 Nonsynonymous SNV G327R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.09 113588 chr5 156672796 156672796 A T rs151046132 ITK Nonsynonymous SNV T504S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 16.98 113589 chr7 140481476 140481476 C T rs56101602 BRAF Synonymous SNV R444R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 14.01 113590 chr7 128049379 128049379 C T rs139979391 IMPDH1 Nonsynonymous SNV G63D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.3 113591 chr7 142723313 142723313 G A rs146939344 OR9A2 Nonsynonymous SNV R303C 0.007 0.005 0.007 5 8 2 0.013 2 0 0 0 0 7.04 113592 chr5 71492506 71492506 C T rs146554740 MAP1B Synonymous SNV D982D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.815 113593 chr7 142997069 142997069 G A rs114290247 CASP2 Synonymous SNV T236T 0.007 0.005 0.01 5 8 2 0.013 3 0 0 0 0 Benign 11.47 113594 chr5 159437762 159437762 C T rs41275307 TTC1 Nonsynonymous SNV A76V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.682 113595 chr7 100682693 100682693 A C rs894409932 MUC17 Nonsynonymous SNV T2666P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.078 113596 chr7 100850184 100850184 G A rs368456141 PLOD3 Nonsynonymous SNV A646V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 113597 chr7 129915016 129915016 A G rs61731658 CPA2 Nonsynonymous SNV I172V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.17 113598 chr7 129944404 129944404 G C rs28369154 CPA4 Synonymous SNV P124P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.875 113599 chr17 48145586 48145586 C T rs766240466 ITGA3 Nonsynonymous SNV T194M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 113600 chr7 148851159 148851159 C T rs142532899 ZNF398 Synonymous SNV A49A 0.01 0.016 0.003 4 12 6 0.01 1 0 0 0 0 14.79 113601 chr7 131084035 131084035 A G rs34830876 MKLN1 Synonymous SNV K182K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.063 113602 chr7 131128450 131128450 T C rs10224156 MKLN1 Synonymous SNV L255L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 3.937 113603 chr7 131189142 131189142 C A rs34520552 PODXL Synonymous SNV G503G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 19.92 113604 chr7 131191476 131191476 C T rs3212301 PODXL Nonsynonymous SNV A339T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 7.961 113605 chr7 143078649 143078649 - CAGCC rs766871459 ZYX 0.001 0 0 1 1 0 0.003 0 0 0 0 0 113606 chr6 160978463 160978463 G A rs768994342 LPA Nonsynonymous SNV T1591I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.65 113607 chr7 107355874 107355874 C T rs111033255 SLC26A4 Nonsynonymous SNV R776C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 113608 chr7 149520478 149520478 C T rs201309922 SSPO 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.65 113609 chr7 150034262 150034262 C T rs530559551 LRRC61 Synonymous SNV A104A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.75 113610 chr7 138312165 138312165 G A rs774616578 SVOPL Nonsynonymous SNV R219W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 113611 chr7 149502579 149502579 C T rs181269877 SSPO 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 17.14 113612 chr5 174034 174034 C T rs377531943 PLEKHG4B Nonsynonymous SNV T1408M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 113613 chr5 176396611 176396611 G A rs11547755 UIMC1 Nonsynonymous SNV L152F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.654 113614 chr7 117008711 117008711 T C rs199687267 ASZ1 Synonymous SNV T164T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.095 113615 chr5 176722219 176722219 T C rs77618751 NSD1 Nonsynonymous SNV L2617S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.75 113616 chr17 56389330 56389330 G T TSPOAP1 Nonsynonymous SNV P891H 0 0 0.007 0 0 0 0 2 0 0 0 0 10.49 113617 chr7 150934939 150934939 G A CHPF2 Synonymous SNV V497V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 113618 chr7 121652025 121652025 G A rs560156569 PTPRZ1 Synonymous SNV S975S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.346 113619 chr7 150733034 150733034 C T rs138257786 ABCB8 Synonymous SNV A243A 0.005 0.01 0 4 6 4 0.01 0 0 1 0 0 15.17 113620 chr7 150845856 150845856 C T rs775219988 GBX1 Synonymous SNV Q304Q 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 9.276 113621 chr5 82816284 82816284 T C rs76418670 VCAN Nonsynonymous SNV V720A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 0.001 113622 chr5 178418472 178418472 C T rs114416693 GRM6 Synonymous SNV T270T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 11.18 113623 chr5 178459978 178459978 G A rs111486809 ZNF879 Synonymous SNV P343P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.931 113624 chr8 17486068 17486068 T C rs75812471 PDGFRL Nonsynonymous SNV V193A 0.008 0.003 0 0 9 1 0 0 0 0 0 0 23.4 113625 chr17 61489486 61489486 A G rs770916010 TANC2 Nonsynonymous SNV K1224R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 113626 chr17 61623222 61623222 C T KCNH6 Nonsynonymous SNV H946Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.33 113627 chr5 179263445 179263445 C T rs104893941 SQSTM1 Nonsynonymous SNV P392L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 113628 chr5 90106246 90106246 C T rs183633457 ADGRV1 Nonsynonymous SNV P5057S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 22.3 113629 chr7 1482023 1482023 G A rs770415572 MICALL2 Nonsynonymous SNV R506W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.9 113630 chr8 19221664 19221664 G C rs877386 SH2D4A Nonsynonymous SNV G218A 0.008 0.008 0.017 10 9 3 0.026 5 0 0 0 0 0.001 113631 chr7 132192499 132192499 C T rs142028036 PLXNA4 Synonymous SNV A318A 0.018 0 0.003 7 21 0 0.018 1 0 0 0 0 Benign 6.656 113632 chr7 132192982 132192982 C T rs151121557 PLXNA4 Synonymous SNV E157E 0.018 0 0.003 7 21 0 0.018 1 0 0 0 0 Benign 6.926 113633 chr17 66381293 66381293 C T rs62085877 ARSG Synonymous SNV V341V 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 15.67 113634 chr17 66423315 66423315 C T rs138586194 WIPI1 Nonsynonymous SNV V303I 0 0 0.01 0 0 0 0 3 0 0 0 0 26.5 113635 chr17 6683855 6683855 T G rs372175030 FBXO39 Nonsynonymous SNV F223C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 113636 chr19 33878846 33878846 C T rs149042427 PEPD Nonsynonymous SNV A391T 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 Benign/Likely benign 25.2 113637 chr19 34922801 34922801 A G rs148322312 UBA2 Synonymous SNV K86K 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 3.155 113638 chr5 205828 205828 C A rs201139003 CCDC127 Stop gain E123X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 113639 chr7 21598564 21598564 A G rs117064287 DNAH11 Nonsynonymous SNV I214V 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.02 113640 chr6 101163317 101163317 A C ASCC3 Synonymous SNV L724L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.509 113641 chr5 31410947 31410947 C T rs370430557 DROSHA Synonymous SNV A1154A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.93 113642 chr19 35829256 35829256 G A rs61741013 CD22 Nonsynonymous SNV A219T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 8.116 113643 chr5 31526306 31526306 C A rs376389062 DROSHA Nonsynonymous SNV R245L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 113644 chr5 32088594 32088594 G A rs148801025 PDZD2 Synonymous SNV A1680A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.91 113645 chr19 36002380 36002385 CCGCCA - rs753113009 DMKN G283_G284del 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 113646 chr19 36002388 36002393 GCTGCC - rs778529746 DMKN G280_S281del 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 113647 chr19 36002488 36002488 C A rs57760262 DMKN Nonsynonymous SNV S248I 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 17.74 113648 chr6 106973041 106973041 C T rs373990804 CRYBG1 Nonsynonymous SNV P1019S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 113649 chr6 106978190 106978190 C T rs78055257 CRYBG1 Nonsynonymous SNV T1165M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 24.9 113650 chr19 36045875 36045875 G A rs61746955 ATP4A Synonymous SNV P810P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 8.228 113651 chr7 26894405 26894405 T A rs140223829 SKAP2 Nonsynonymous SNV I58F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.081 113652 chr19 36133913 36133913 C G rs147910161 ETV2 Synonymous SNV S67S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.69 113653 chr5 34033523 34033523 A G rs375595390 C1QTNF3 Synonymous SNV H79H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.273 113654 chr17 7220585 7220585 G A rs768791304 NEURL4 Nonsynonymous SNV P1473S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 113655 chr19 36632024 36632024 - GGC CAPNS1 G56_T57insG 0.017 0.01 0 5 20 4 0.013 0 2 0 0 0 113656 chr7 128829039 128829039 - GCT rs570242755 SMO L23_G24insL 0.006 0.005 0.01 1 7 2 0.003 3 1 0 0 0 113657 chr17 7329798 7329798 G A SPEM2 Nonsynonymous SNV R163H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 113658 chr7 158621886 158621886 C A ESYT2 Nonsynonymous SNV R75L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 113659 chr17 73554284 73554284 C T rs35940109 LLGL2 Synonymous SNV N74N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.78 113660 chr17 73625443 73625443 C G rs34941411 RECQL5 Nonsynonymous SNV R687P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.456 113661 chr17 73625852 73625852 C T rs35566780 RECQL5 Nonsynonymous SNV S628N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.34 113662 chr8 30699558 30699558 G T rs140197848 TEX15 Nonsynonymous SNV Q2709K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.008 113663 chr7 21943842 21943842 G A rs144495438 CDCA7L Synonymous SNV I315I 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 16.18 113664 chr7 40037230 40037230 C G rs34775357 CDK13 Nonsynonymous SNV T670R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.2 113665 chr7 23299676 23299676 C T rs201982196 GPNMB Nonsynonymous SNV L207F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.93 113666 chr7 42187825 42187825 G A rs199909375 GLI3 Nonsynonymous SNV H123Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.9 113667 chr19 39998888 39998893 CTAGGC - rs1064796953 DLL3 A587Lfs*47 0.002 0 0 2 2 0 0.005 0 0 0 0 0 113668 chr6 132966207 132966207 T C rs8192621 TAAR1 Synonymous SNV R312R 0.02 0.018 0.01 4 24 7 0.01 3 1 0 0 0 0.309 113669 chr17 7612536 7612536 C A rs752118716 EFNB3 Nonsynonymous SNV P222H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 113670 chr6 136681856 136681856 T C rs34795045 MAP7 Synonymous SNV Q500Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 113671 chr6 136683810 136683810 G A rs113337066 MAP7 Nonsynonymous SNV S341L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 113672 chr19 41063227 41063227 C G rs140466069 SPTBN4 Nonsynonymous SNV P539R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.97 113673 chr6 136683828 136683828 A G rs80342066 MAP7 Nonsynonymous SNV M335T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 113674 chr6 136687471 136687471 C T rs79603562 MAP7 Nonsynonymous SNV R234Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.7 113675 chr17 76494931 76494931 G A rs77691068 DNAH17-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.348 113676 chr6 136904783 136904783 G A rs78692210 MAP3K5 Synonymous SNV A1107A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.36 113677 chr6 136934321 136934321 T C rs9389412 MAP3K5 Synonymous SNV T784T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.813 113678 chr19 41239245 41239245 G A rs561455046 ITPKC Synonymous SNV L550L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.21 113679 chr5 60982790 60982790 A T rs79425313 C5orf64 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 113680 chr6 138613063 138613063 C T rs772843349 ARFGEF3 Nonsynonymous SNV P1081S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 113681 chr17 76525627 76525627 G A rs201764607 DNAH17 Nonsynonymous SNV P1145L 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 29.6 113682 chr17 77015672 77015672 T C rs572636233 C1QTNF1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 113683 chr8 6690239 6690239 C T rs150110995 XKR5 Nonsynonymous SNV R81Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.61 113684 chr7 48312030 48312030 A C ABCA13 Nonsynonymous SNV I923L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 113685 chr7 158902546 158902546 C T rs199793974 VIPR2 Synonymous SNV T72T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.14 113686 chr17 77758091 77758091 G T rs149210919 CBX2 Nonsynonymous SNV K283N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 17.02 113687 chr8 68396042 68396042 C T rs61738009 CPA6 Nonsynonymous SNV G267R 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 113688 chr5 68805616 68805616 G A rs35107257 OCLN Synonymous SNV L233L 0.013 0.01 0.02 7 15 4 0.018 6 0 0 0 0 Benign 3.161 113689 chr5 70805707 70805707 G A rs200304584 BDP1 Nonsynonymous SNV E930K 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Likely benign 9.531 113690 chr7 31793149 31793149 C T rs148606596 PDE1C Nonsynonymous SNV R660H 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Benign 25.7 113691 chr7 4949628 4949628 G A rs371331943 MMD2 Nonsynonymous SNV R165C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 18.15 113692 chr6 4935836 4935836 A G CDYL Nonsynonymous SNV K25R 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 14.55 113693 chr17 7819195 7819195 T C rs183537440 RNF227 Nonsynonymous SNV K107E 0 0 0.044 0 0 0 0 13 0 0 0 0 11.23 113694 chr17 7819261 7819261 G C rs189040868 RNF227 Nonsynonymous SNV Q85E 0 0 0.034 0 0 0 0 10 0 0 0 0 8.45 113695 chr17 78321477 78321477 C T rs377465265 RNF213 Synonymous SNV D3114D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 113696 chr17 78336958 78336958 G A rs779622455 RNF213 Synonymous SNV A3804A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 113697 chr17 78360553 78360553 C T rs147131622 RNF213 Synonymous SNV D4928D 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign 16.91 113698 chr5 73160688 73160688 A C ARHGEF28 Synonymous SNV A385A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.172 113699 chr6 152545774 152545774 T C rs145882956 SYNE1 Nonsynonymous SNV K7055R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.468 113700 chr8 87081758 87081758 C A rs370079446 PSKH2 Nonsynonymous SNV A32S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 5.42 113701 chr8 87460703 87460703 A G rs148651938 WWP1 Nonsynonymous SNV N745S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.66 113702 chr17 79006900 79006900 G A rs141210094 BAIAP2-DT 0 0 0.007 0 0 0 0 2 0 0 0 0 4.33 113703 chr7 24727220 24727220 G T rs142149525 MPP6 Nonsynonymous SNV S537I 0.008 0.003 0.01 4 9 1 0.01 3 0 0 0 0 27.2 113704 chr6 52141986 52141986 G A rs760955789 MCM3 Synonymous SNV S302S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.16 113705 chr17 79095762 79095767 CAGCGG - rs781210369 AATK P554_L555del 0 0 0.003 0 0 0 0 1 0 0 0 0 113706 chr8 87738856 87738856 C T rs148834016 CNGB3 Nonsynonymous SNV D81N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 7.3 113707 chr8 92212910 92212910 C T rs147431106 LRRC69 Nonsynonymous SNV R119W 0.002 0 0 0 2 0 0 0 0 0 0 0 9.829 113708 chr8 92307854 92307854 G A rs139871019 SLC26A7 Nonsynonymous SNV V134M 0.002 0 0 0 2 0 0 0 0 0 0 0 18.18 113709 chr19 44661139 44661139 T C rs182005583 ZNF234 Nonsynonymous SNV C324R 0.001 0.003 0.007 8 1 1 0.021 2 0 0 0 1 3.966 113710 chr8 94828644 94828644 A G rs115967793 TMEM67 Synonymous SNV A984A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.886 113711 chr17 79517566 79517566 G A rs111682181 FAAP100 Synonymous SNV H318H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 8.2 113712 chr17 79518127 79518127 G A rs113231059 FAAP100 Synonymous SNV C131C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 1.468 113713 chr7 64168893 64168976 ACATAAGATAATTCATACTGGAGAGAAACCCTACAAATGTGGAGATTATGGCAGAGCTTTCAACCTATCCTCAAATCTTACTAC - ZNF107 I777_K804del 0.001 0 0 0 1 0 0 0 0 0 0 0 113714 chr7 27570915 27570915 G A rs970616917 HIBADH Nonsynonymous SNV R250W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 113715 chr7 6449794 6449794 A G rs139753251 DAGLB Nonsynonymous SNV I467T 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Benign 27.2 113716 chr6 55120134 55120134 C A rs199945618 HCRTR2 Synonymous SNV A201A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 113717 chr17 79519275 79519275 C G rs189173983 FAAP100 Nonsynonymous SNV V28L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.4 113718 chr7 71135043 71135043 C T rs17143818 GALNT17 Synonymous SNV D451D 0.009 0.013 0.024 7 11 5 0.018 7 0 0 0 0 14.6 113719 chr5 78532874 78532874 A G rs767241884 JMY Nonsynonymous SNV K134R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.154 113720 chr7 64452930 64452930 C T rs199931905 ERV3-1 Nonsynonymous SNV D159N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.554 113721 chr17 80011773 80011773 C T rs146356426 GPS1 Synonymous SNV S52S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 14.4 113722 chr17 80016263 80016263 G A rs147637107 DUS1L Synonymous SNV R412R 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 11.76 113723 chr17 80037040 80037040 G A rs1140624 FASN Synonymous SNV R2505R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.77 113724 chr5 7878424 7878424 T A rs2303080 MTRR Nonsynonymous SNV S257T 0.014 0.016 0.007 4 16 6 0.01 2 0 1 0 0 Benign 0.001 113725 chr8 99118187 99118187 C T rs151264404 RIDA Nonsynonymous SNV V92I 0.008 0.008 0 7 9 3 0.018 0 0 0 0 0 23.3 113726 chr8 99168597 99168597 G A rs376126108 POP1 Nonsynonymous SNV E793K 0.008 0.008 0 7 9 3 0.018 0 0 0 0 0 8.322 113727 chr17 80405497 80405497 C T rs750985673 CYBC1 Nonsynonymous SNV G29E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 113728 chr7 72849533 72849533 C G rs202037150 FZD9 Nonsynonymous SNV T399R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.4 113729 chr6 159667972 159667972 C T rs61746218 FNDC1 Nonsynonymous SNV T1554M 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 23.7 113730 chr17 80788219 80788219 C T rs139082484 ZNF750 Synonymous SNV A657A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.05 113731 chr7 4829523 4829523 C T AP5Z1 Nonsynonymous SNV L434F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 113732 chr6 69666011 69666011 G T rs572642080 ADGRB3 Nonsynonymous SNV A431S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.61 113733 chr19 45716364 45716364 C T rs189063316 EXOC3L2 Nonsynonymous SNV R398Q 0.01 0.016 0.003 7 12 6 0.018 1 0 0 0 0 23.7 113734 chr7 48314403 48314403 G T rs866373680 ABCA13 Stop gain E1714X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 113735 chr7 75687366 75687366 G A rs61744459 MDH2 Synonymous SNV P26P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.76 113736 chr7 36327311 36327311 G A rs778869469 EEPD1 Nonsynonymous SNV E414K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 113737 chr6 16328216 16328216 G A rs752493191 ATXN1 Nonsynonymous SNV P109L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 113738 chr18 10471810 10471810 G A rs115383241 APCDD1 Nonsynonymous SNV A176T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.79 113739 chr7 1579594 1579594 C T MAFK Synonymous SNV G18G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 113740 chr6 7583885 7583885 T C rs28763969 DSP Synonymous SNV A1531A 0.009 0.008 0.014 5 10 3 0.013 4 0 0 0 1 Benign/Likely benign 2.766 113741 chr7 81601108 81601108 C T rs78086631 CACNA2D1 Nonsynonymous SNV S709N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 17.75 113742 chr7 5372663 5372663 T G TNRC18 Nonsynonymous SNV T1913P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 113743 chr5 93966338 93966338 A C rs918488120 SLF1 Synonymous SNV A107A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.011 113744 chr5 93990395 93990395 A C rs190144448 SLF1 Nonsynonymous SNV K365Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.926 113745 chr7 4245511 4245511 C T SDK1 Nonsynonymous SNV A187V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.73 113746 chr5 94834113 94834113 C A rs779252858 TTC37 Nonsynonymous SNV S1175I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.75 113747 chr18 21100211 21100211 T G RMC1 Nonsynonymous SNV S142A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 113748 chr6 7910888 7910888 G A rs750207705 TXNDC5 Nonsynonymous SNV A41V 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 1 13.33 113749 chr9 111881973 111881973 T C rs145560454 TMEM245 Nonsynonymous SNV Y74C 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 22.7 113750 chr19 47876081 47876081 C T rs117334188 DHX34 Synonymous SNV S621S 0.003 0.008 0.007 5 4 3 0.013 2 0 0 0 0 Benign 15.75 113751 chr9 112182842 112182842 C T rs140094288 PTPN3 Nonsynonymous SNV R60H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 113752 chr6 168708274 168708274 C T rs141181495 DACT2 Synonymous SNV A551A 0.025 0.008 0.01 9 29 3 0.023 3 1 0 0 0 12.62 113753 chr19 47983146 47983146 A G rs200513352 KPTN Nonsynonymous SNV I198T 0 0 0 4 0 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.31 113754 chr7 6210909 6210909 C T rs760794383 CYTH3 Synonymous SNV A77A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.91 113755 chr6 80732138 80732138 A C rs56270911 TTK Synonymous SNV A402A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.306 113756 chr6 170156465 170156465 G C rs556131065 ERMARD Nonsynonymous SNV S116T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.121 113757 chr6 100061624 100061624 - CCGCCGCCGCCGCCG PRDM13 P378_G379insPPPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 113758 chr9 115652008 115652008 C T rs200558726 SLC46A2 Synonymous SNV V318V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.678 113759 chr6 21595266 21595266 - GGC rs564094826 SOX4 G173_S174insG 0.002 0 0.003 0 2 0 0 1 0 0 0 0 113760 chr7 97872830 97872830 C T rs117632823 TECPR1 Synonymous SNV T202T 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 10.77 113761 chr9 116048508 116048508 A T rs758147656 PRPF4 Nonsynonymous SNV D7V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 113762 chr7 27285729 27285729 G T rs201423153 EVX1 Synonymous SNV S121S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.85 113763 chr6 26017372 26017372 C A rs1051771679 H1-1 Nonsynonymous SNV A197S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 113764 chr6 26087621 26087621 C G rs41266793 LOC108783645 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 0.4 113765 chr9 117168799 117168799 C T WHRN Nonsynonymous SNV S340N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 113766 chr7 801488 801488 G C rs765930744 DNAAF5 Synonymous SNV L523L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.678 113767 chr18 34846495 34846495 C T rs747740678 CELF4 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 113768 chr7 100280070 100280070 C T rs149825909 GIGYF1 Nonsynonymous SNV R879H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.3 113769 chr9 117168844 117168844 G C rs139279977 WHRN Nonsynonymous SNV P325R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 113770 chr7 8110740 8110740 T C GLCCI1 Synonymous SNV L386L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.639 113771 chr7 30477217 30477217 G A rs536811666 NOD1 Nonsynonymous SNV R837W 0.003 0 0 0 4 0 0 0 0 0 0 0 33 113772 chr19 50156118 50156118 C G rs367769230 SCAF1 Synonymous SNV S824S 0 0 0 4 0 0 0.01 0 0 0 0 0 0.351 113773 chr18 44171980 44171980 G A rs192376005 LOXHD1 Nonsynonymous SNV R524C 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 113774 chr7 50607639 50607639 C T DDC Nonsynonymous SNV A97T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 113775 chr7 50680453 50680453 C T rs568610330 GRB10 Synonymous SNV A347A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.46 113776 chr9 123785738 123785738 G T rs34552775 C5 Nonsynonymous SNV L360M 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 25 113777 chr7 89861885 89861885 G C rs922737012 STEAP2 Nonsynonymous SNV G474R 0.004 0 0 0 5 0 0 0 0 0 0 0 11.65 113778 chr18 5410594 5410594 C T rs201553363 EPB41L3 Nonsynonymous SNV A529T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 113779 chr8 10623344 10623344 C T rs199675528 PINX1 Nonsynonymous SNV R185Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 113780 chr8 107782325 107782325 C G ABRA Nonsynonymous SNV G32R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 113781 chr19 50949294 50949294 G A rs77280515 MYBPC2 Nonsynonymous SNV E431K 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 23.9 113782 chr19 50958550 50958550 A C rs186249573 MYBPC2 Nonsynonymous SNV I734L 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 15.76 113783 chr19 51165297 51165297 G A rs145388631 SHANK1 Synonymous SNV Y2137Y 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Likely benign 0.007 113784 chr7 6068269 6068269 C T EIF2AK1 Nonsynonymous SNV E502K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.3 113785 chr8 11615928 11615928 G A rs56208331 GATA4 Nonsynonymous SNV D426N 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 32 113786 chr7 91794023 91794023 T A rs185483517 LRRD1 Nonsynonymous SNV Y165F 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 3.489 113787 chr8 11666213 11666213 - CCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACT FDFT1 P63_Q64insHSHSHSHSHSHSHSHSHS 0.005 0.003 0 0 6 1 0 0 0 0 0 0 113788 chr8 11666218 11666218 G C rs750848649 FDFT1 Nonsynonymous SNV Q64H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.786 113789 chr6 127837357 127837357 A G rs112657916 SOGA3 Synonymous SNV L135L 0.011 0.008 0.01 2 13 3 0.005 3 0 0 0 0 0.093 113790 chr8 122626769 122626769 G C rs75735654 HAS2 Synonymous SNV V413V 0.02 0.016 0.007 3 24 6 0.008 2 0 0 0 0 Benign 0.91 113791 chr7 98957292 98957292 A G rs776934695 ARPC1A Nonsynonymous SNV N291S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.13 113792 chr6 135768282 135768282 C T rs35433555 AHI1 Nonsynonymous SNV R548H 0.01 0 0.003 1 12 0 0.003 1 1 0 0 0 Benign 24.1 113793 chr6 13638117 13638117 G A rs138241137 RANBP9 Synonymous SNV H532H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.842 113794 chr8 126021519 126021519 A G rs199608260 SQLE Nonsynonymous SNV I348V 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.246 113795 chr6 35446225 35446225 A G rs144697750 TEAD3 Nonsynonymous SNV S156P 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 14.38 113796 chr7 47342611 47342611 T A rs77924433 TNS3 Nonsynonymous SNV I1132F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 113797 chr6 144074960 144074960 G T PHACTR2 Nonsynonymous SNV R122L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 113798 chr6 144207907 144207907 A G rs1034210380 ZC2HC1B Nonsynonymous SNV I100V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.785 113799 chr18 72999205 72999205 G A rs149729975 TSHZ1 Nonsynonymous SNV A615T 0.003 0 0.014 5 3 0 0.013 4 0 0 0 0 Likely benign 0.001 113800 chr6 38820493 38820493 C A rs45519938 DNAH8 Nonsynonymous SNV D1613E 0.012 0.003 0.003 0 14 1 0 1 1 0 0 0 Benign 25.8 113801 chr7 87092186 87092186 C T rs772771936 ABCB4 Synonymous SNV S58S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 16.01 113802 chr6 150184601 150184601 G A rs143869691 LRP11 Nonsynonymous SNV L186F 0.003 0 0 0 3 0 0 0 1 0 0 0 19.33 113803 chr8 134225211 134225211 C A rs781339241 CCN4 Synonymous SNV S58S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.68 113804 chr9 132377786 132377786 C T rs140534012 C9orf50 Nonsynonymous SNV R286H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 113805 chr8 141461059 141461059 G A rs115986561 TRAPPC9 Synonymous SNV Y138Y 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 2.5 113806 chr7 48506593 48506593 C T rs199968836 ABCA13 Nonsynonymous SNV R4286W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 113807 chr8 141521651 141521651 C T rs138836941 CHRAC1 Nonsynonymous SNV S18L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 113808 chr6 42626021 42626021 G A rs573327030 UBR2 Nonsynonymous SNV S1009N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 113809 chr8 110477352 110477352 A C rs118074609 PKHD1L1 Nonsynonymous SNV N2764T 0.013 0.036 0.007 2 15 14 0.005 2 0 0 0 0 6.804 113810 chr8 142138824 142138824 G A rs1000731541 DENND3 Synonymous SNV S6S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 113811 chr7 94897920 94897920 A C rs531226169 PPP1R9A Synonymous SNV R886R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.111 113812 chr9 134025727 134025727 C T NUP214 Nonsynonymous SNV P676L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27 113813 chr6 153323570 153323570 A G rs148961474 MTRF1L Nonsynonymous SNV L84S 0.004 0 0 0 5 0 0 0 0 0 0 0 25.4 113814 chr6 43014697 43014697 C T rs144619494 CUL7 Nonsynonymous SNV R857Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.9 113815 chr6 43017883 43017883 G A rs768504882 CUL7 Nonsynonymous SNV R547C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 113816 chr6 43155832 43155832 A C rs925658083 CUL9 Nonsynonymous SNV T655P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 113817 chr6 43193827 43193827 C T rs1018965769 DNPH1 Nonsynonymous SNV R107Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 113818 chr7 99145678 99145678 C G rs61998164 FAM200A Nonsynonymous SNV R118P 0.009 0 0.003 6 10 0 0.015 1 0 0 0 0 29.2 113819 chr8 124243771 124243771 G A rs139580952 C8orf76, ZHX1-C8orf76 Nonsynonymous SNV T195I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 113820 chr9 135458439 135458439 C G rs145113690 BARHL1 Synonymous SNV A85A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.529 113821 chr19 1054075 1054075 G A rs563199420 ABCA7 Synonymous SNV P1181P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.62 113822 chr8 144464059 144464059 C T rs201736905 RHPN1 Nonsynonymous SNV T573M 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 24.1 113823 chr6 45390502 45390502 - GCG RUNX2 A75_V76insA 0.001 0 0 0 1 0 0 0 0 0 0 0 113824 chr8 144557590 144557590 G A ZC3H3 Synonymous SNV G627G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 1.916 113825 chr9 136223537 136223537 C T rs139428144 SURF2 Synonymous SNV D23D 0.011 0.003 0.007 4 13 1 0.01 2 1 0 0 0 13.73 113826 chr7 64452906 64452906 C G rs71534295 ERV3-1 Nonsynonymous SNV D167H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.53 113827 chr6 159654655 159654655 G T FNDC1 Nonsynonymous SNV Q1037H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.118 113828 chr7 6628370 6628370 C A rs376906446 ZDHHC4 Nonsynonymous SNV N288K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.3 113829 chr19 10941022 10941022 G A rs200100669 DNM2 Synonymous SNV R833R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.222 113830 chr9 137593099 137593099 G A rs138579182 COL5A1 Nonsynonymous SNV D192N 0.011 0.013 0.003 7 13 5 0.018 1 0 0 0 1 Benign/Likely benign 17.88 113831 chr19 11660213 11660213 C T rs75731155 CNN1 Synonymous SNV L193L 0.003 0 0.014 0 3 0 0 4 0 0 0 0 11.28 113832 chr8 144874061 144874061 G A rs530563448 SCRIB Synonymous SNV T1560T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 113833 chr19 12137511 12137511 G A rs279172 ZNF433-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.976 113834 chr8 144877450 144877450 G A rs548052372 SCRIB Synonymous SNV A1256A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.963 113835 chr19 12137649 12137649 A G rs279173 ZNF433-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.795 113836 chr8 106813934 106813934 C G ZFPM2 Nonsynonymous SNV P489A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 13.18 113837 chr19 12155494 12155494 G A rs78408076 ZNF878 Nonsynonymous SNV S241L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.46 113838 chr8 144998941 144998941 C T rs782270594 PLEC Nonsynonymous SNV R1705Q 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Uncertain significance 23.3 113839 chr8 145018055 145018055 C T rs782603878 PLEC Nonsynonymous SNV E2K 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 11.12 113840 chr6 1612017 1612017 - CGGCGG rs572346201 FOXC1 G456_Q457insGG 0.001 0 0 0 1 0 0 0 0 0 0 0 113841 chr19 12187685 12187685 A T rs1438694 ZNF844 Nonsynonymous SNV M584L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.788 113842 chr19 12187738 12187738 C T rs144932544 ZNF844 Synonymous SNV F601F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 113843 chr8 144941228 144941228 T C EPPK1 Nonsynonymous SNV Y2065C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 113844 chr9 139244135 139244135 C T rs782090448 GPSM1 Nonsynonymous SNV P459S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.352 113845 chr19 12461072 12461072 G A rs10500210 ZNF442 Nonsynonymous SNV R374C 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 22.5 113846 chr8 144991599 144991599 C T rs200575172 PLEC Synonymous SNV T4116T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.09 113847 chr8 145167137 145167137 G A rs181448990 WDR97 Nonsynonymous SNV R969H 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 1.434 113848 chr19 13035722 13035722 T C rs35087277 FARSA Nonsynonymous SNV Q341R 0.012 0 0.007 4 14 0 0.01 2 0 0 0 0 19.91 113849 chr6 168348559 168348559 A G rs115735451 AFDN Nonsynonymous SNV S1170G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.879 113850 chr6 168442682 168442682 A G rs58330252 KIF25 Nonsynonymous SNV E227G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.479 113851 chr7 127253858 127253858 G A rs121917718 PAX4 Nonsynonymous SNV R172W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 32 113852 chr6 168442793 168442793 G C rs34801387 KIF25 Nonsynonymous SNV R264P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 113853 chr6 168443341 168443341 T C rs58648170 KIF25 Synonymous SNV R310R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 113854 chr19 14048739 14048739 C T rs929953277 PODNL1 Synonymous SNV L33L 0 0 0.003 0 0 0 0 1 0 0 0 0 11 113855 chr8 124821188 124821188 G C rs778573586 FAM91A1 Synonymous SNV L489L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.19 113856 chr6 74161405 74161405 G A rs141016543 CGAS Nonsynonymous SNV A167V 0.004 0 0 0 5 0 0 0 0 0 0 0 10.33 113857 chr6 74161406 74161406 C G rs150220319 CGAS Nonsynonymous SNV A167P 0.004 0 0 0 5 0 0 0 0 0 0 0 7.469 113858 chr8 17581213 17581213 G A rs185663553 MTUS1 Nonsynonymous SNV T806I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 113859 chr8 125551285 125551285 C T rs201043428 TATDN1 Star tloss M1? 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.5 113860 chr8 144658261 144658261 C T rs761418207 NAPRT Nonsynonymous SNV R137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.73 113861 chr19 57327105 57327105 G A PEG3 Nonsynonymous SNV A747V 0.003 0 0 4 4 0 0.01 0 0 0 0 0 11.35 113862 chr6 25862227 25862227 G C rs370924957 SLC17A3 Nonsynonymous SNV Q112E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 113863 chr6 26043658 26043658 G A rs372065604 H2BC3 Synonymous SNV G76G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.78 113864 chr6 26509392 26509392 G A rs115774646 BTN1A1 Nonsynonymous SNV G524E 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 12.24 113865 chr8 21767395 21767395 G T rs61752038 DOK2 Synonymous SNV G68G 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 0.433 113866 chr19 16268239 16268239 G C rs547179739 HSH2D Synonymous SNV S206S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.643 113867 chr8 21978705 21978705 C T rs201308362 HR Nonsynonymous SNV R747H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 113868 chr9 17462978 17462978 C G rs200095100 CNTLN Nonsynonymous SNV A1123G 0.001 0 0 0 1 0 0 0 0 0 0 0 21 113869 chr8 1844580 1844580 T C ARHGEF10 Nonsynonymous SNV C470R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 113870 chr19 58213743 58213743 G A rs74939505 ZNF154 Stop gain R192X 0.012 0.008 0.01 9 14 3 0.023 3 0 0 0 0 24.9 113871 chr9 18950932 18950932 C T rs149656581 SAXO1 Synonymous SNV R14R 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 14.05 113872 chr6 90403837 90403837 G T rs781028589 MDN1 Nonsynonymous SNV D3279E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.94 113873 chr6 33668279 33668279 G T rs114881155 UQCC2 Synonymous SNV P75P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 8.041 113874 chr9 20720465 20720465 C T rs771913912 FOCAD Synonymous SNV L73L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.24 113875 chr8 1950041 1950041 G C rs757548377 KBTBD11 Nonsynonymous SNV G228A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.281 113876 chr8 1950579 1950579 G A rs559081158 KBTBD11 Synonymous SNV L407L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.384 113877 chr19 17088196 17088196 C G rs138079023 CPAMD8 Nonsynonymous SNV E580D 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 22.6 113878 chr9 21350700 21350700 G A rs370196139 IFNA6 Stop gain Q63X 0.004 0.005 0 0 5 2 0 0 0 0 0 0 28.5 113879 chr19 58928524 58928524 C T rs118124900 ZNF584 Synonymous SNV A168A 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 13.23 113880 chr19 17122463 17122463 G A rs56266450 CPAMD8 Synonymous SNV D124D 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 0.138 113881 chr6 99824005 99824005 G A rs142295782 COQ3 Synonymous SNV N180N 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 11.2 113882 chr20 264679 264679 C T rs367585129 C20orf96 Synonymous SNV P76P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 9.507 113883 chr7 100064671 100064671 C - TSC22D4 A367Pfs*70 0.001 0 0 0 1 0 0 0 0 0 0 0 113884 chr8 22081807 22081807 G A rs756784392 PHYHIP Synonymous SNV I130I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.81 113885 chr7 100411557 100411557 C T rs778608954 EPHB4 Nonsynonymous SNV A559T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 113886 chr9 27548305 27548305 G A rs149274966 C9orf72 Synonymous SNV L459L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.27 113887 chr6 36287294 36287294 G A rs141156956 BNIP5 Nonsynonymous SNV H588Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.74 113888 chr8 22428670 22428670 G A rs747937715 SORBS3 Nonsynonymous SNV G218E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 17.21 113889 chr6 36446968 36446968 G A rs144155176 KCTD20 Nonsynonymous SNV G24S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.1 113890 chr9 32448905 32448905 C T rs61629844 ACO1 Synonymous SNV A794A 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 14.66 113891 chr9 32448959 32448959 T G rs55872609 ACO1 Synonymous SNV G812G 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 10.42 113892 chr9 32450043 32450043 T C rs61261358 ACO1 Synonymous SNV D868D 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 0.027 113893 chr19 17435635 17435635 C T rs764377157 ANO8 Synonymous SNV R1074R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.58 113894 chr9 3346719 3346719 C T rs200958644 RFX3 Nonsynonymous SNV A55T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 113895 chr8 27145264 27145264 G T TRIM35 Nonsynonymous SNV R429S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 113896 chr8 27145265 27145265 C T TRIM35 Synonymous SNV L428L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.03 113897 chr19 1827021 1827023 GGA - rs756900102 REXO1 S589del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 113898 chr9 35752857 35752857 A G rs372774064 RGP1 Nonsynonymous SNV T388A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.86 113899 chr9 35811215 35811215 C T rs73444820 SPAG8 Synonymous SNV P276P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 14.37 113900 chr19 18378120 18378120 C T rs757916869 IQCN Nonsynonymous SNV R77H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.853 113901 chr9 35842480 35842480 A G rs7037450 TMEM8B Synonymous SNV E15E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.447 113902 chr9 35845998 35845998 G C rs34807292 TMEM8B Nonsynonymous SNV G179R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.43 113903 chr9 35957383 35957383 A G rs2233567 OR2S2 Nonsynonymous SNV V238A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.261 113904 chr9 35957577 35957577 A G rs2233566 OR2S2 Synonymous SNV N173N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.003 113905 chr9 35957615 35957615 T C rs2233565 OR2S2 Nonsynonymous SNV T161A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.08 113906 chr9 35957760 35957760 C T rs2233562 OR2S2 Synonymous SNV E112E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.168 113907 chr8 145001221 145001221 T C rs200895043 PLEC Nonsynonymous SNV K1276R 0.011 0.013 0.003 0 13 5 0 1 0 0 0 0 Benign 13.97 113908 chr9 35957764 35957764 G A rs2233561 OR2S2 Nonsynonymous SNV T111I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.1 113909 chr9 35957831 35957831 G A rs2233560 OR2S2 Nonsynonymous SNV P89S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.002 113910 chr8 3253789 3253789 G A rs201401389 CSMD1 Synonymous SNV T840T 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 Benign 7.175 113911 chr9 36171197 36171197 A G rs113222879 CCIN Synonymous SNV P566P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.315 113912 chr19 19603128 19603128 G A rs200305535 GATAD2A Nonsynonymous SNV E95K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 33 113913 chr19 19656415 19656415 G A rs370547583 CILP2 Nonsynonymous SNV V1021M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.576 113914 chr19 20727843 20727843 C A rs782320412 ZNF737 Nonsynonymous SNV R389I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.05 113915 chr9 379923 379923 G A rs770643758 DOCK8 Nonsynonymous SNV V797M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.002 113916 chr8 38176435 38176435 T G rs2234558 NSD3 Synonymous SNV T611T 0.009 0.013 0.003 7 10 5 0.018 1 0 0 0 0 0.181 113917 chr8 145168414 145168414 T C WDR97 Synonymous SNV N1059N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 113918 chr6 43738673 43738673 G A rs368064502 VEGFA Nonsynonymous SNV S77N 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 113919 chr9 4585425 4585425 T A rs149003103 SLC1A1 Nonsynonymous SNV I481N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 24.7 113920 chr8 30407042 30407042 G A rs144993453 RBPMS Nonsynonymous SNV R185K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 113921 chr9 4585498 4585498 T C rs142938908 SLC1A1 Synonymous SNV N505N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 4.174 113922 chr8 23159596 23159596 T C rs971614864 LOXL2 Nonsynonymous SNV I693V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 113923 chr8 145667682 145667682 C T rs370598002 TONSL Nonsynonymous SNV C231Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.9 113924 chr8 3081358 3081358 T C rs754233313 CSMD1 Synonymous SNV A1459A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.525 113925 chr19 2189749 2189749 G A rs150316325 DOT1L Synonymous SNV R73R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.789 113926 chr8 42587001 42587001 T G rs534904091 CHRNB3 Nonsynonymous SNV I184S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.463 113927 chr8 145726915 145726915 G A rs748499226 PPP1R16A Nonsynonymous SNV E406K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.484 113928 chr19 2250351 2250351 C T rs139265145 AMH Nonsynonymous SNV T143I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.14 113929 chr9 5921428 5921428 A G KIAA2026 Nonsynonymous SNV V1523A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.935 113930 chr9 5922244 5922244 G C KIAA2026 Nonsynonymous SNV S1251C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 113931 chr8 145741431 145741431 T C rs371503929 RECQL4 Nonsynonymous SNV M358V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 11.33 113932 chr9 6592868 6592868 G C rs73400312 GLDC Nonsynonymous SNV L462V 0.005 0 0.017 1 6 0 0.003 5 0 0 1 0 Benign 10.95 113933 chr8 38315034 38315034 C T FGFR1 Synonymous SNV R10R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 113934 chr8 38677261 38677261 G A rs141796337 TACC1 Nonsynonymous SNV G167R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.878 113935 chr6 49459870 49459870 C T rs58217464 CENPQ Nonsynonymous SNV A230V 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 17.45 113936 chr9 77386641 77386641 G T rs35904059 TRPM6 Synonymous SNV R1167R 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 Benign 10.49 113937 chr9 77416951 77416951 A G rs12349050 TRPM6 Synonymous SNV A619A 0.01 0.008 0.007 4 12 3 0.01 2 0 0 0 0 Benign 3.383 113938 chr9 78773925 78773925 G A rs138257548 PCSK5 Nonsynonymous SNV R486H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 26.2 113939 chr19 31768646 31768646 C T rs141310391 TSHZ3 Nonsynonymous SNV A685T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.604 113940 chr6 52142417 52142417 T C rs61752700 MCM3 Nonsynonymous SNV I271V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.18 113941 chr6 52369391 52369391 G C rs755344750 TRAM2 Nonsynonymous SNV S346C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 113942 chr8 18662398 18662398 C T rs769507862 PSD3 Nonsynonymous SNV V15M 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 15.67 113943 chr8 55537578 55537578 G T rs573551979 RP1 Nonsynonymous SNV G379V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.5 113944 chr9 79999547 79999547 - TGA rs113052866 VPS13A D3089_E3090insD 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 113945 chr8 30969188 30969188 C T rs201990558 WRN Nonsynonymous SNV R716C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.8 113946 chr8 19263472 19263472 A T rs17128366 CSGALNACT1 Nonsynonymous SNV F473Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 113947 chr8 19277930 19277930 G A rs34285170 CSGALNACT1 Synonymous SNV N351N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.366 113948 chr8 19683957 19683957 G C rs35459696 INTS10 Nonsynonymous SNV V114L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.05 113949 chr6 54219405 54219405 G C rs140019555 TINAG Nonsynonymous SNV K407N 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 13.31 113950 chr9 87563460 87563460 C A rs2289657 NTRK2 Synonymous SNV I588I 0.02 0.039 0.024 10 23 15 0.026 7 0 0 0 0 21.3 113951 chr8 36703120 36703120 C A rs61744028 KCNU1 Nonsynonymous SNV P576T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.623 113952 chr8 68204302 68204302 T C rs774615749 ARFGEF1 Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.764 113953 chr20 24964605 24964605 G A rs766770222 APMAP Nonsynonymous SNV S49F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.751 113954 chr8 21977898 21977898 G T rs11990451 HR Nonsynonymous SNV S911R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 1.322 113955 chr9 96019257 96019257 C T rs775770143 WNK2 Synonymous SNV L740L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 13.18 113956 chr8 69058536 69058536 C T rs61753703 PREX2 Nonsynonymous SNV R1394W 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 33 113957 chr8 21984999 21984999 G A rs77758962 HR Nonsynonymous SNV P319L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 18.89 113958 chr8 22067070 22067070 C T rs4076619 BMP1 Synonymous SNV A896A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 15.62 113959 chr8 22078920 22078920 G C rs113533102 PHYHIP Synonymous SNV A313A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.988 113960 chr8 71646136 71646136 G A rs115882259 XKR9 Nonsynonymous SNV C200Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.003 113961 chr7 1097947 1097947 G A rs55677825 GPR146 Nonsynonymous SNV V266M 0.012 0.01 0.017 0 14 4 0 5 0 0 0 0 0.973 113962 chr8 22168712 22168712 G A rs78530977 PIWIL2 Nonsynonymous SNV G630S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 113963 chr8 81897051 81897051 G C rs140643833 PAG1 Nonsynonymous SNV A279G 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 5.374 113964 chr8 48877234 48877234 C T rs80302822 MCM4 Nonsynonymous SNV A265V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 113965 chr9 97321404 97321404 A G rs72743247 FBP2 Nonsynonymous SNV L279P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 29.1 113966 chr8 72967795 72967795 T C rs61758118 TRPA1 Nonsynonymous SNV I469V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.108 113967 chr7 1132075 1132075 T C rs11977449 GPER1 Synonymous SNV I237I 0.014 0.013 0.027 1 17 5 0.003 8 0 0 0 0 0.002 113968 chr9 98638328 98638328 C A rs151308487 ERCC6L2 Nonsynonymous SNV P3Q 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 9.051 113969 chr7 115890510 115890510 C T rs2272193 TES Nonsynonymous SNV A221V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 113970 chr8 22584727 22584727 C T rs115814340 PEBP4 Nonsynonymous SNV D122N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.22 113971 chr6 7580386 7580386 G A rs61731476 DSP Synonymous SNV Q1321Q 0.026 0.031 0.014 10 30 12 0.026 4 0 1 0 0 Benign/Likely benign 3.039 113972 chr8 62577816 62577816 G T ASPH Nonsynonymous SNV N209K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.61 113973 chr19 36884513 36884513 T A ZFP82 Synonymous SNV V244V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.393 113974 chr19 37118188 37118188 C T ZNF382 Synonymous SNV P462P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.946 113975 chr8 88218342 88218342 G A rs114439288 CNBD1 Nonsynonymous SNV E185K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 113976 chr8 6669144 6669144 C T rs373527039 XKR5 Nonsynonymous SNV A546T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 113977 chr8 25224470 25224470 A C rs373021303 DOCK5 Nonsynonymous SNV N1070H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.92 113978 chr8 9413680 9413680 G A rs202025565 TNKS Synonymous SNV R77R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 113979 chr8 70744581 70744581 C T rs34148850 SLCO5A1 Nonsynonymous SNV A110T 0.015 0.008 0.014 4 18 3 0.01 4 0 0 0 0 Likely benign 1.183 113980 chr20 36572514 36572514 G A rs146721357 VSTM2L Synonymous SNV K158K 0.005 0.005 0.003 5 6 2 0.013 1 0 0 0 0 11.75 113981 chr7 128037009 128037009 T C rs61751223 IMPDH1 Nonsynonymous SNV H271R 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.61 113982 chr8 97332560 97332560 G T PTDSS1 Nonsynonymous SNV W241L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 34 113983 chr9 104238689 104238689 C T rs201690177 PGAP4 Nonsynonymous SNV R229Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.6 113984 chrX 132160991 132160991 C A USP26 Nonsynonymous SNV V420F 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 113985 chr8 99441057 99441057 A G rs143746607 KCNS2 Nonsynonymous SNV T284A 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 0.022 113986 chr8 79590841 79590841 G A rs201638521 ZC2HC1A Nonsynonymous SNV R46Q 0.006 0 0 0 7 0 0 0 0 0 0 0 34 113987 chr7 128865147 128865147 C T rs758474402 AHCYL2 Nonsynonymous SNV A77V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.3 113988 chrX 135453619 135453619 T G rs753670147 ADGRG4 Nonsynonymous SNV L2510R 0.003 0 0 0 3 0 0 0 1 0 0 0 27.1 113989 chr8 8185742 8185742 C T rs200047944 PRAG1 Synonymous SNV S850S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.38 113990 chr7 130021694 130021694 C T rs150653308 CPA1 Nonsynonymous SNV T124I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.9 113991 chr7 130038866 130038866 C G rs368525533 CEP41 Nonsynonymous SNV A242P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.921 113992 chr19 39359939 39359939 T C rs140416410 RINL Nonsynonymous SNV H529R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 113993 chr19 3942249 3942249 C T rs149893927 NMRK2 Nonsynonymous SNV A229V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 113994 chr9 100971167 100971167 G A rs201610345 TBC1D2 Nonsynonymous SNV H185Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.885 113995 chrX 151284001 151284001 C T rs140384326 MAGEA10-MAGEA5, MAGEA5 Synonymous SNV E4E 0.005 0.008 0 0 6 3 0 0 2 1 0 0 0.758 113996 chr7 137600682 137600682 G A rs145713623 CREB3L2 Synonymous SNV D132D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.987 113997 chr19 40895744 40895744 G A rs140217358 HIPK4 Synonymous SNV F22F 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 11.78 113998 chr9 109690789 109690789 C A ZNF462 Synonymous SNV T1532T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 113999 chr9 112013780 112013780 C G EPB41L4B Nonsynonymous SNV V431L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 114000 chr20 48808195 48808195 G A CEBPB Nonsynonymous SNV A186T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 114001 chrX 23018717 23018717 A C rs763374560 DDX53 Nonsynonymous SNV E181D 0.002 0 0 0 2 0 0 0 1 0 0 0 24.4 114002 chr8 99205618 99205618 A G rs151228528 NIPAL2 Synonymous SNV A354A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.464 114003 chr9 115759947 115759947 C T rs376605473 ZNF883 Nonsynonymous SNV R198Q 0.003 0 0 0 3 0 0 0 0 0 0 0 4.609 114004 chr8 6679412 6679412 A G rs76351821 XKR5 Synonymous SNV N262N 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 6.176 114005 chr19 43999432 43999432 A T rs1125031 PHLDB3 Synonymous SNV S337S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 114006 chr7 143090844 143090844 G A rs56124846 EPHA1 Synonymous SNV H872H 0.009 0.026 0.007 4 11 10 0.01 2 0 0 0 0 Benign 9.246 114007 chr19 44047633 44047633 C A rs750461941 XRCC1 Nonsynonymous SNV A605S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 114008 chr7 143098568 143098568 C T rs45447297 EPHA1 Nonsynonymous SNV R94H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 114009 chr9 118997625 118997625 A G rs770786227 PAPPA Nonsynonymous SNV N814S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.06 114010 chr9 1052030 1052030 G A DMRT2 Synonymous SNV K139K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 114011 chr7 143140627 143140627 C T rs371693986 TAS2R60 Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.636 114012 chr9 116359106 116359106 G T rs200977038 RGS3 Nonsynonymous SNV R127L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.9 114013 chr7 143175205 143175205 C T rs751421038 TAS2R41 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.794 114014 chr9 123280823 123280823 C T rs775616637 CDK5RAP2 Nonsynonymous SNV R398H 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 27.3 114015 chr9 107456928 107456928 C T rs56017313 OR13D1 Nonsynonymous SNV L76F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.128 114016 chrX 38019394 38019394 G A rs377733865 SRPX Synonymous SNV S257S 0.006 0 0 0 7 0 0 0 1 0 0 0 8.109 114017 chr8 74526081 74526081 G A rs28728027 STAU2 Synonymous SNV R91R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.16 114018 chrX 50350672 50350674 TCT - rs782644659 SHROOM4 E1158del 0.002 0 0 0 2 0 0 0 1 0 0 0 114019 chrX 53223725 53223725 G A KDM5C Nonsynonymous SNV R1145W 0.002 0 0 0 2 0 0 0 1 0 0 0 23.8 114020 chrX 54957327 54957327 G A rs777105981 TRO Synonymous SNV P921P 0.002 0 0 0 2 0 0 0 1 0 0 0 4.196 114021 chrX 55026972 55026972 G T APEX2 Synonymous SNV L39L 0.003 0 0 0 4 0 0 0 2 0 0 0 1.425 114022 chr9 120475248 120475248 G A rs137853920 TLR4 Nonsynonymous SNV C81Y 0.004 0 0.003 0 5 0 0 1 0 0 0 0 not provided 23.7 114023 chr7 149545025 149545025 C T rs201261199 ZNF862 Nonsynonymous SNV P148L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 114024 chr19 44681680 44681680 T C rs201959279 ZNF226 Synonymous SNV Y755Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 114025 chr20 60989108 60989108 C T rs527310870 RBBP8NL Synonymous SNV T433T 0 0 0 4 0 0 0.01 0 0 0 0 0 11.29 114026 chr7 150554937 150554937 A G rs200630234 AOC1 Nonsynonymous SNV N460S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 114027 chr8 92406232 92406232 G A SLC26A7 Nonsynonymous SNV V333I 0.001 0 0 0 1 0 0 0 0 0 0 0 18 114028 chr20 61940019 61940019 C G COL20A1 Nonsynonymous SNV R301G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.786 114029 chr19 45322423 45322423 C A rs769406228 BCAM Nonsynonymous SNV L483I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 114030 chr7 100683986 100683986 A G rs534027626 MUC17 Nonsynonymous SNV I3097V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 114031 chrY 14898163 14898163 G A rs20320 USP9Y Nonsynonymous SNV A1060T 0.01 0.016 0.014 14 12 6 0.036 4 6 3 2 7 12.7 114032 chrY 6736443 6736443 C T rs35815655 AMELY Nonsynonymous SNV V70M 0.007 0.01 0.007 10 8 4 0.026 2 4 2 1 5 3.028 114033 chrY 6931957 6931957 G T rs200332530 TBL1Y Nonsynonymous SNV S75I 0.005 0.01 0.007 2 6 4 0.005 2 3 2 1 1 17.42 114034 chr7 1024179 1024179 C T rs57806492 CYP2W1 Synonymous SNV I102I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.14 114035 chr7 75517580 75517580 G A rs372147983 RHBDD2 Synonymous SNV V200V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.199 114036 chr9 126777715 126777715 A G LHX2 Nonsynonymous SNV Y213C 0.001 0 0 0 1 0 0 0 0 0 0 0 27 114037 chr7 107355871 107355871 A G SLC26A4 Nonsynonymous SNV M775V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.28 114038 chr9 117846638 117846638 C T rs767948969 TNC Nonsynonymous SNV E661K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 114039 chr19 46318216 46318216 C T rs61730712 RSPH6A Synonymous SNV Q73Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.349 114040 chr19 46319277 46319277 A C rs185654690 SYMPK Synonymous SNV S1173S 0.012 0.016 0.014 11 14 6 0.028 4 0 0 0 0 0.427 114041 chr8 43013785 43013785 C T rs779516482 HGSNAT Nonsynonymous SNV A101V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.191 114042 chr1 1223172 1223172 T A rs760936696 SCNN1D Nonsynonymous SNV F507I 0.003 0 0 0 3 0 0 0 0 0 0 0 22 114043 chr8 48883241 48883241 G C rs777517502 MCM4 Synonymous SNV G535G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.633 114044 chr20 62493412 62493412 C A rs766084482 ABHD16B Synonymous SNV L173L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13 114045 chr19 46716716 46716716 A G rs12971702 LOC93429 0 0 0.02 0 0 0 0 6 0 0 3 0 2.109 114046 chr7 19738033 19738033 T - rs771428489 TWISTNB K308Rfs*18 0.002 0 0 1 2 0 0.003 0 0 0 0 0 114047 chr9 130191194 130191194 C T rs62586846 ZNF79 Nonsynonymous SNV P10S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 8.838 114048 chr9 104323119 104323119 G A RNF20 Nonsynonymous SNV E807K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 114049 chr19 47768171 47768171 C T rs201241449 CCDC9 Nonsynonymous SNV R230W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 34 114050 chr9 106860779 106860779 A C rs61755310 SMC2 Nonsynonymous SNV N124T 0.003 0 0.02 1 4 0 0.003 6 0 0 0 0 Likely benign 23.1 114051 chr7 120767247 120767247 A G rs1054847897 CPED1 Nonsynonymous SNV N413S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 114052 chr19 48043509 48043509 G A rs140989558 ZNF541 Nonsynonymous SNV T849M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 114053 chr9 131218455 131218455 C T rs565971283 ODF2 Nonsynonymous SNV R29C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 21.8 114054 chr9 131397116 131397116 C T rs17849504 WDR34 Nonsynonymous SNV G356S 0.011 0.01 0.014 2 13 4 0.005 4 0 0 0 0 Benign 24.4 114055 chr1 2433636 2433636 C T rs202014893 PLCH2 Nonsynonymous SNV P889L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.002 114056 chr9 110248068 110248068 C T rs115734249 KLF4 Synonymous SNV S502S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 12.27 114057 chr9 125512454 125512454 A G rs760049032 OR1L6 Nonsynonymous SNV N110D 0.004 0 0 0 5 0 0 0 0 0 0 0 19.49 114058 chr9 132084450 132084450 C T rs74931254 C9orf106 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.112 114059 chr7 93063601 93063601 G C CALCR Nonsynonymous SNV F385L 0 0.005 0 0 0 2 0 0 0 0 0 0 1.034 114060 chr9 126144012 126144012 G A rs777747780 DENND1A Nonsynonymous SNV P921L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 114061 chr7 27134245 27134245 C G rs373337108 HOXA1 Nonsynonymous SNV K274N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 114062 chr19 49671952 49671952 G A rs146564314 TRPM4 Nonsynonymous SNV R137H 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 114063 chr19 50094968 50094968 A G rs764476598 PRR12 Synonymous SNV G19G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.473 114064 chr9 130479638 130479638 G A rs139753825 TTC16 Nonsynonymous SNV E73K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 16.57 114065 chr7 30491371 30491371 C T rs141577782 NOD1 Synonymous SNV A554A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.891 114066 chr1 6727848 6727848 G A DNAJC11 Nonsynonymous SNV P100L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 114067 chr7 31124994 31124994 C T rs768098970 ADCYAP1R1 Synonymous SNV S181S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 114068 chr19 50755984 50755984 G A rs199696801 MYH14 Nonsynonymous SNV R632Q 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 114069 chr9 131020796 131020796 C T rs556715333 GOLGA2 Nonsynonymous SNV A704T 0.004 0 0 0 5 0 0 0 0 0 0 0 10.84 114070 chr9 131196429 131196429 C T rs148628855 CERCAM Nonsynonymous SNV R340C 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 35 114071 chr9 136403495 136403495 G C rs376297294 ADAMTSL2 Synonymous SNV G86G 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Uncertain significance 6.215 114072 chr1 10364385 10364385 C T rs376558549 KIF1B Nonsynonymous SNV R1048C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.92 114073 chr7 138239586 138239586 C T rs752822121 TRIM24 Nonsynonymous SNV R469W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 114074 chr7 34818145 34818145 G A rs368718436 NPSR1 Nonsynonymous SNV D107N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 114075 chr19 51607669 51607669 A G rs577015585 CTU1 Nonsynonymous SNV V53A 0.005 0.003 0.017 0 6 1 0 5 0 0 0 0 19.16 114076 chr8 95888349 95888349 G A rs149744313 INTS8 Synonymous SNV A912A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.38 114077 chr7 139281647 139281647 C A rs371202598 HIPK2 Nonsynonymous SNV V818L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22 114078 chr7 141464019 141464019 A G TAS2R3 Nonsynonymous SNV I21V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 114079 chr9 134321955 134321955 G A rs72772613 PRRC2B Nonsynonymous SNV V261I 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 13.61 114080 chr8 11695968 11695968 G A rs770899743 FDFT1 Synonymous SNV T201T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.19 114081 chr19 52147277 52147277 A G rs200317831 SIGLEC14 Nonsynonymous SNV L256P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.11 114082 chr9 134401335 134401335 C A rs2296957 UCK1 Nonsynonymous SNV A180S 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 16.4 114083 chr21 45175839 45175839 C T rs146321963 PDXK Synonymous SNV A238A 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 16.94 114084 chr9 136302027 136302027 G C rs782279962 ADAMTS13 Nonsynonymous SNV G463R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 114085 chr9 136313842 136313842 C T rs143568784 ADAMTS13 Nonsynonymous SNV P952S 0.003 0 0 0 3 0 0 0 0 0 0 0 29.9 114086 chr7 47853152 47853152 C T rs201121351 C7orf69 0.009 0 0.007 0 10 0 0 2 0 0 0 0 4.319 114087 chr9 139946040 139946040 G A rs34618694 ENTPD2 Nonsynonymous SNV A103V 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 27 114088 chr9 136521734 136521734 C T rs749769986 DBH Synonymous SNV D508D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.8 114089 chr9 136898820 136898820 G T rs56166940 BRD3 Synonymous SNV P691P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 5.948 114090 chr1 17991005 17991005 G A rs762516801 ARHGEF10L Nonsynonymous SNV R678H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 114091 chr9 140417283 140417283 G A PNPLA7 Synonymous SNV V233V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.406 114092 chr19 54611426 54611426 G A rs377239639 TFPT Synonymous SNV P174P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 114093 chr9 139357939 139357939 A G rs13300554 SEC16A Synonymous SNV I1541I 0.009 0.013 0.007 2 11 5 0.005 2 0 0 0 0 0.362 114094 chr9 139397677 139397677 C A rs35980907 NOTCH1 Synonymous SNV S1708S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign/Likely benign 19.75 114095 chr1 20975021 20975021 G A rs45515602 PINK1 Nonsynonymous SNV A383T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 15.4 114096 chr1 21016784 21016784 G A rs200348675 KIF17 Synonymous SNV A426A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.183 114097 chr7 55242504 55242504 A T EGFR Nonsynonymous SNV E491D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 114098 chr7 150839003 150839003 A T AGAP3 Nonsynonymous SNV E277V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 29.3 114099 chr19 55220626 55220626 C T rs270771 LILRP2 0 0 0.041 0 0 0 0 12 0 0 2 0 1.418 114100 chr7 150920858 150920858 G A rs138874438 ABCF2, LOC114483834 Nonsynonymous SNV R210W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 114101 chr1 22155371 22155371 G A rs763103278 HSPG2 Nonsynonymous SNV P4066L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.3 114102 chr8 140744252 140744252 G A rs112551069 TRAPPC9 Synonymous SNV F1074F 0.009 0.016 0.007 1 11 6 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.981 114103 chr7 154677414 154677414 C T rs3734959 DPP6 Synonymous SNV C628C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.69 114104 chr7 5751465 5751465 G A RNF216 Nonsynonymous SNV P663L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 114105 chr9 27011919 27011921 CAA - IFT74 Q250del 0.001 0 0 0 1 0 0 0 0 0 0 0 114106 chr1 23768196 23768196 G A rs72661458 ASAP3 Synonymous SNV A224A 0.003 0.013 0 0 3 5 0 0 0 1 0 0 11.36 114107 chr1 24078972 24078972 C A ELOA Nonsynonymous SNV L527I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.74 114108 chr9 33364731 33364731 G A rs137901689 NFX1 Nonsynonymous SNV V1001I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.761 114109 chr22 20791940 20791940 - AGC rs771400946 SCARF2 W35_C870delinsLWMLPDTVAPQELNPRGRNVCRAPGSQVPTCCAGWRQQGDECGIAVCEGNSTCSENEVCVRPGECRCRHGYFGANCDTKCPRQFWGPDCKELCSCHPHGQCEDVTGQCTCHARRWGARCEHACQCQHGTCHPRSGACRCEPGWWGAQCASACYCSATSRCDPQTGACLCHAGWWGRSCNNQCACNSSPCEQQSGRCQCRERTFGARCDRYCQCFRGRCHPVDGTCACEPGYRGKYCREPCPAGFYGLGCRRRCGQCKGQQPCTVAEGRCLTCEPGWNGTKCDQPCATGFYGEGCSHRCPPCRDGHACNHVTGKCTRCNAGWIGDRCETKCSNGTYGEDCAFVCADCGSGHCDFQSGRCLCSPGVHGPHCNVTCPPGLHGADCAQACSCHEDTCDPVTGACHLETNQRKGVMGAGALLVLLVCLLLSLLGCCCACRGKDPTRRPRPRRELSLGRKKAPHRLCGRFSRISMKLPRIPLRRQKLPKVVVAHHDLDNTLNCSFLEPPSGLEQPSPSWSSRASFSSFDTTDEGPVYCVPHEEAPAESRDPEVPTVPAEAPAPSPVPLTTPASAEEAIPLPASSDSERSASSVEGPGGALYARVARREARPARARGEIGGLSLSPSPERRKPPPPDPATKPKVSWIHGKHSAAAAGRAPSPPPPGSEAAPSPSKRKRTPSDKSAHTVEHGSPRTRDPTPRPPGLPEEATALAAPSPPRARARPRPGLLEPTDAGGPPRSAPRLPPCWPLTCAARLAAWAAPRWPWARRAPGKSRRPHRKPSAPCRQPRPPARPQRPKPRGLRRRRPTCPRLRPPGRRPPSRSRRARRAGRRRASWAGRAHPPCSRLWLVRAQLPQLRSAARHPTPPTLPGTGGLLLAGHRAASGGCVSLAQVLQPLLDWSSVLWREGPIPLVEA* 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 114110 chr19 56002242 56002242 C T SSC5D Synonymous SNV R230R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.614 114111 chr9 15666264 15666264 A C CCDC171 Nonsynonymous SNV E340A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.1 114112 chr9 35045693 35045693 C A rs3824552 C9orf131 Synonymous SNV R988R 0.003 0 0.007 0 4 0 0 2 0 0 0 0 14.33 114113 chr7 21468304 21468309 AGGAGG - SP4 E10_E11del 0.002 0 0 0 2 0 0 0 0 0 0 0 114114 chr9 37541433 37541433 A C rs112964036 FBXO10 Nonsynonymous SNV S111R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.003 114115 chr19 56370103 56370103 C T rs117636433 NLRP4 Synonymous SNV Y448Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.335 114116 chr9 19361945 19361945 C T rs376849743 DENND4C Synonymous SNV V1787V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.1 114117 chr9 5922460 5922460 A T rs767418714 KIAA2026 Nonsynonymous SNV I1179K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.79 114118 chr22 24237218 24237218 C T rs189811391 MIF-AS1 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 Benign 10.37 114119 chr22 24468346 24468346 C G rs34626155 CABIN1 Nonsynonymous SNV P790A 0.008 0 0.01 4 9 0 0.01 3 0 0 0 0 Likely benign 22.6 114120 chr7 23236810 23236810 T A rs201885281 NUP42 Nonsynonymous SNV Y210N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.987 114121 chr19 56888555 56888555 G A rs12185527 ZNF542P 0 0 0.01 0 0 0 0 3 0 0 0 0 15.31 114122 chr22 24627458 24627458 G A rs144201854 GGT5 Synonymous SNV P188P 0.009 0.005 0.014 6 11 2 0.015 4 0 0 0 0 12.52 114123 chr7 84727146 84727146 A G rs772807504 SEMA3D Nonsynonymous SNV V96A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 114124 chr9 72520928 72520928 C T rs138325359 C9orf135 Nonsynonymous SNV T90M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.1 114125 chr1 28208933 28208933 G A rs138235456 THEMIS2 Synonymous SNV T366T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.09 114126 chr7 24689304 24689304 A G rs117927165 MPP6 Nonsynonymous SNV N115S 0.003 0 0 0 4 0 0 0 0 0 0 0 7.449 114127 chr9 4583075 4583075 G A rs199813988 SLC1A1 Nonsynonymous SNV V411M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.1 114128 chr9 4844531 4844531 G A rs749284895 RCL1 Synonymous SNV P53P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 114129 chr9 6254555 6254555 - A rs113609242 IL33 0.014 0.008 0.048 8 17 3 0.021 14 1 0 0 0 114130 chr8 145057443 145057443 G A rs561983217 PARP10 Nonsynonymous SNV R784C 0.003 0.01 0 0 4 4 0 0 0 0 0 0 23.1 114131 chr9 75526891 75526891 G A rs762664992 ALDH1A1 Nonsynonymous SNV R395C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 114132 chr8 145138063 145138063 G A rs138412600 GPAA1 Synonymous SNV L37L 0.007 0.013 0.01 1 8 5 0.003 3 0 0 0 0 6.982 114133 chr9 35609464 35609464 C T rs142237307 TESK1 Nonsynonymous SNV R376W 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.4 114134 chr1 32375678 32375678 C T rs753328143 PTP4A2 Nonsynonymous SNV C88Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 114135 chr9 138678163 138678163 G A rs769422518 KCNT1 Nonsynonymous SNV A1055T 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 5.172 114136 chr22 28503115 28503115 G A rs144717854 TTC28 Synonymous SNV V906V 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 Benign 6.446 114137 chr9 139107029 139107029 G A rs144728279 QSOX2 Nonsynonymous SNV S444L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 114138 chr1 33291942 33291942 T C rs201367061 S100PBP Nonsynonymous SNV V81A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 114139 chr1 33361266 33361266 C T rs34622520 TMEM54 Nonsynonymous SNV A97T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26.3 114140 chr8 145535799 145535799 G A rs369045018 HSF1 Synonymous SNV E337E 0.003 0.01 0 0 4 4 0 0 0 0 0 0 12.3 114141 chr9 36882074 36882074 G T PAX5 Synonymous SNV P270P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 13.19 114142 chr19 58437532 58437535 TTCT - rs762560751 ZNF418 R587Vfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 114143 chr19 5847656 5847656 G A rs2608893 LOC101928844 0 0 0.068 0 0 0 0 20 0 0 8 0 3.731 114144 chr19 5847692 5847692 C T rs2637194 LOC101928844 0 0 0.061 0 0 0 0 18 0 0 7 0 5.64 114145 chr1 36039680 36039680 G A rs1016907222 TFAP2E Synonymous SNV P60P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 114146 chr9 79318535 79318535 T A PRUNE2 Nonsynonymous SNV E2665V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 114147 chr9 86258357 86258357 G A rs140430693 IDNK Nonsynonymous SNV G76R 0.009 0.003 0.017 4 11 1 0.01 5 0 0 0 0 25.6 114148 chr7 98805084 98805084 C T rs368261288 KPNA7 Synonymous SNV P2P 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Likely benign 10.91 114149 chr7 36397150 36397150 A C rs370666510 KIAA0895 Nonsynonymous SNV N25K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 114150 chr7 36579939 36579939 C T rs140099559 AOAH Nonsynonymous SNV R399K 0.006 0.003 0.014 0 7 1 0 4 0 0 0 0 23.1 114151 chr9 5557749 5557749 A G rs776743239 PDCD1LG2 Nonsynonymous SNV K255E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.08 114152 chr7 36917709 36917709 A G rs746303700 ELMO1 Synonymous SNV Y96Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.547 114153 chr7 99705196 99705196 C T rs749294882 TAF6 Synonymous SNV S606S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 114154 chr8 100789154 100789154 C G VPS13B Nonsynonymous SNV L2492V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 114155 chr1 39917879 39917879 C T rs765783165 MACF1 Nonsynonymous SNV R4765W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 114156 chr8 17415835 17415835 G A rs771614838 SLC7A2 Synonymous SNV A409A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.84 114157 chr9 140008443 140008443 G A rs150267769 DPP7 Nonsynonymous SNV S120F 0.01 0.008 0.017 0 12 3 0 5 0 0 0 0 25.3 114158 chr8 103851977 103851977 C T rs147813042 AZIN1 Synonymous SNV V59V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 15.53 114159 chr9 96422747 96422747 C T rs369820631 PHF2 Nonsynonymous SNV R535W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 114160 chr19 7437954 7437954 G A rs116526927 ARHGEF18 Nonsynonymous SNV R91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 114161 chr9 99581343 99581343 C T rs146058964 ZNF782 Nonsynonymous SNV R297H 0.006 0.013 0.003 4 7 5 0.01 1 0 0 0 0 6.721 114162 chr9 99581882 99581882 C T rs35658789 ZNF782 Synonymous SNV A117A 0.019 0.016 0.017 4 22 6 0.01 5 0 0 0 0 12.81 114163 chr9 140392689 140392689 C T rs200853831 PNPLA7 Nonsynonymous SNV R564Q 0.003 0 0 0 3 0 0 0 0 0 0 0 35 114164 chr7 45650004 45650004 C G rs144232626 ADCY1 Synonymous SNV P272P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 114165 chr19 7830154 7830154 G A rs752150138 CLEC4M Nonsynonymous SNV V44M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 114166 chr22 41753253 41753253 G A rs756720084 ZC3H7B Synonymous SNV E918E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.69 114167 chr8 11614584 11614584 G A rs114868912 GATA4 Nonsynonymous SNV V381M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.86 114168 chr8 11666156 11666156 G T rs144913726 FDFT1 Nonsynonymous SNV A44S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.232 114169 chr9 88923374 88923374 G C rs143293008 TUT7 Nonsynonymous SNV Q1034E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 114170 chr8 11704650 11704650 C T rs17573 CTSB Nonsynonymous SNV S111N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.002 114171 chrX 113965906 113965906 T A HTR2C Nonsynonymous SNV M80K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 114172 chr9 91977321 91977321 A G rs148210520 SEMA4D Nonsynonymous SNV L738P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.18 114173 chrX 129149906 129149906 A G rs35470604 BCORL1 Nonsynonymous SNV K1053R 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 8.728 114174 chr9 21304913 21304913 G A rs41298198 IFNA5 Stop gain Q115X 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 28.4 114175 chr8 27320636 27320636 G A rs56298562 CHRNA2 Synonymous SNV L442L 0.012 0.005 0.014 5 14 2 0.013 4 0 0 0 0 Benign 0.008 114176 chrX 130409697 130409697 A G rs147496468 IGSF1 Nonsynonymous SNV V971A 0.011 0.026 0.003 3 13 10 0.008 1 4 3 0 0 Benign 24.5 114177 chr8 121061918 121061918 A G DEPTOR Nonsynonymous SNV E301G 0.002 0 0 0 2 0 0 0 0 0 0 0 32 114178 chrX 100747255 100747255 G A rs143534706 ARMCX4 Nonsynonymous SNV A1227T 0.005 0 0 3 6 0 0.008 0 2 0 0 1 1.269 114179 chrX 10085659 10085659 C T rs369289091 WWC3 Synonymous SNV H520H 0.002 0.005 0.007 1 2 2 0.003 2 1 1 1 0 9.056 114180 chrX 135762946 135762946 G A ARHGEF6 Nonsynonymous SNV P396S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.39 114181 chrX 102974119 102974119 G A rs41300882 GLRA4 0.003 0.008 0.007 3 3 3 0.008 2 1 1 1 1 Benign 5.407 114182 chrX 138827940 138827940 C T rs55724992 ATP11C Nonsynonymous SNV V972M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 24 114183 chr8 13133780 13133780 G A DLC1 Nonsynonymous SNV R44W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 114184 chr22 45923870 45923870 C T rs147512358 FBLN1 Synonymous SNV V155V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.29 114185 chr19 9049589 9049589 G A rs779392286 MUC16 Nonsynonymous SNV T10681I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.155 114186 chrX 114404898 114404900 AAT - LRCH2 L321del 0.003 0 0 0 3 0 0 0 1 0 0 0 114187 chr22 47086016 47086016 G A rs145587785 CERK Nonsynonymous SNV L472F 0 0 0 5 0 0 0.013 0 0 0 0 0 1.966 114188 chrX 152913476 152913476 G A rs782763957 DUSP9 Synonymous SNV L23L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.94 114189 chrX 152914835 152914835 G A rs151054957 DUSP9 Synonymous SNV A174A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 9.932 114190 chrX 153036957 153036957 C T rs17091287 PLXNB3 Synonymous SNV C788C 0.003 0.003 0 0 3 1 0 0 1 0 0 0 7.593 114191 chrX 140996276 140996276 G A rs147768551 MAGEC1 Nonsynonymous SNV R1029H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.2 114192 chrX 153170618 153170618 A T rs5196 AVPR2 Nonsynonymous SNV T7S 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 0.002 114193 chrX 153206946 153206946 G C rs145285861 RENBP Nonsynonymous SNV N310K 0.003 0.003 0 0 3 1 0 0 1 0 0 0 14.51 114194 chr8 135669901 135669901 C T rs187529527 ZFAT Synonymous SNV E21E 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.1 114195 chr1 62614029 62614029 C T rs183715116 PATJ Nonsynonymous SNV S1782L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 26.2 114196 chr7 73814798 73814798 G A rs782252676 CLIP2 Synonymous SNV T958T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.56 114197 chrX 2778108 2778108 T G rs377738756 GYG2 0.003 0.003 0 2 3 1 0.005 0 1 0 0 0 15.18 114198 chr8 63948265 63948265 C T rs11786893 GGH Synonymous SNV A58A 0.011 0.005 0.003 3 13 2 0.008 1 1 0 0 0 Benign 20.8 114199 chr19 9524272 9524272 T - rs768055186 ZNF266 A444Hfs*113 0.001 0 0.007 0 1 0 0 2 0 0 0 0 114200 chrX 30254173 30254173 T C rs201088914 MAGEB3 Synonymous SNV L44L 0.004 0.005 0 0 5 2 0 0 2 0 0 0 0.022 114201 chr19 9968429 9968429 G A rs201455202 OLFM2 Nonsynonymous SNV R30W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28 114202 chr8 143822612 143822612 G A rs62636564 SLURP1 Synonymous SNV A87A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 8.052 114203 chr1 100350200 100350200 T C rs768045638 AGL Synonymous SNV F874F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.895 114204 chr8 144162483 144162483 G A rs532494134 LY6L Nonsynonymous SNV V5I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 114205 chr7 86567508 86567508 T C rs368229986 KIAA1324L Synonymous SNV T101T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.129 114206 chr1 104113158 104113158 C T rs12132911 ACTG1P4 0 0 0.102 0 0 0 0 30 0 0 2 0 2.849 114207 chr8 144332181 144332181 C T rs79119638 ZFP41 Synonymous SNV D56D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 114208 chr7 87011805 87011805 C T rs377150948 CROT Nonsynonymous SNV P416L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 114209 chr8 144378277 144378277 G C rs61729412 ZNF696 Synonymous SNV R144R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.534 114210 chr8 144403505 144403505 C A rs114379623 TOP1MT Nonsynonymous SNV V240L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 114211 chrX 18912457 18912457 G A rs149632860 PHKA2 Synonymous SNV P1134P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.314 114212 chrX 21670517 21670517 G A rs138982878 CNKSR2 Nonsynonymous SNV D916N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 22.7 114213 chr8 144620485 144620485 G A rs34674128 ZC3H3 Nonsynonymous SNV P351L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 114214 chr1 109241916 109241916 G A rs34519167 PRPF38B Synonymous SNV E160E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.487 114215 chr7 89856631 89856631 A G rs751685635 STEAP2 Nonsynonymous SNV Y280C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 114216 chrX 24197706 24197706 T A rs149552647 ZFX Nonsynonymous SNV H155Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.8 114217 chr1 82456485 82456485 G A rs148763084 ADGRL2 Nonsynonymous SNV E1290K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 114218 chrX 16859875 16859875 G T rs781455729 TXLNG Stop gain E393X 0.003 0.008 0 1 4 3 0.003 0 1 0 0 0 38 114219 chrX 49595614 49595614 G C PAGE4 Nonsynonymous SNV Q31H 0.004 0.005 0 2 5 2 0.005 0 2 0 0 0 7.407 114220 chrX 18936859 18936859 T C rs143732206 PHKA2 Nonsynonymous SNV I693V 0.007 0.016 0.027 7 8 6 0.018 8 2 1 4 2 Benign 0.001 114221 chr9 977347 977347 - CGCAGC rs936174469 DMRT3 P120_P121insQP 0.002 0 0 0 2 0 0 0 0 0 0 0 114222 chr8 144895820 144895820 C T rs144081360 SCRIB Nonsynonymous SNV G145R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.2 114223 chrX 19482477 19482477 G A rs753951124 MAP3K15 Synonymous SNV C191C 0.002 0 0 4 2 0 0.01 0 1 0 0 1 0.366 114224 chrX 65835841 65835841 A G rs73221529 EDA2R Nonsynonymous SNV Y8H 0.009 0.018 0.007 1 11 7 0.003 2 3 1 0 0 Benign 25.6 114225 chr8 87917340 87917340 G A rs10504829 CNBD1 Nonsynonymous SNV D64N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.007 114226 chr8 145024578 145024578 G A rs190222339 PLEC Synonymous SNV R99R 0.015 0.003 0.003 3 18 1 0.008 1 0 0 0 0 9.886 114227 chr8 145058545 145058545 G A rs782464308 PARP10 Synonymous SNV L517L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 8.891 114228 chrX 107381396 107381396 C T rs955347215 ATG4A Synonymous SNV N186N 0.003 0 0 0 3 0 0 0 1 0 0 0 14.75 114229 chrX 36403020 36403020 A G rs199773068 CFAP47 Nonsynonymous SNV M3155V 0 0 0 5 0 0 0.013 0 0 0 0 1 0.001 114230 chr7 98606106 98606106 C T rs56290902 TRRAP Synonymous SNV I3577I 0.011 0.008 0.01 4 13 3 0.01 3 0 0 0 0 19.44 114231 chr8 145140246 145140246 C T GPAA1 Synonymous SNV L439L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 114232 chrX 48418493 48418493 C T rs144200723 TBC1D25 Synonymous SNV G415G 0.004 0 0.01 1 5 0 0.003 3 1 0 1 0 8.815 114233 chr7 99521208 99521208 G A rs118082856 GJC3 Nonsynonymous SNV A267V 0.012 0.016 0.017 12 14 6 0.031 5 0 0 0 0 11.46 114234 chrX 74641709 74641709 T C rs377090202 ZDHHC15 Nonsynonymous SNV I276V 0.003 0.005 0.003 0 3 2 0 1 1 0 0 0 1.049 114235 chr7 99662208 99662208 C T rs773945283 ZSCAN21 Stop gain R464X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 114236 chrX 118230509 118230509 C T rs145929840 KIAA1210 Nonsynonymous SNV R405H 0.014 0.003 0.031 6 17 1 0.015 9 6 0 4 2 Benign 26.6 114237 chrX 75648551 75648551 A C rs7066146 MAGEE1 Synonymous SNV P76P 0.013 0.016 0.017 8 15 6 0.021 5 4 1 0 2 0.013 114238 chrX 75649340 75649340 G C rs7051260 MAGEE1 Nonsynonymous SNV E339D 0.013 0.016 0.017 8 15 6 0.021 5 4 1 0 2 0.297 114239 chr1 11308007 11308007 C T rs35903812 MTOR Nonsynonymous SNV A329T 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Likely benign 22.6 114240 chr7 99700378 99700378 C T rs41280965 AP4M1 Synonymous SNV P83P 0.005 0.013 0.01 5 6 5 0.013 3 0 0 0 0 Benign 12.1 114241 chr7 99704485 99704485 G A rs147738731 AP4M1 Nonsynonymous SNV A455T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.8 114242 chrX 50053738 50053738 A C rs139478498 CCNB3 Nonsynonymous SNV K857Q 0.01 0 0.003 0 12 0 0 1 3 0 0 0 Likely benign 9.37 114243 chrX 45011041 45011041 A G rs1042945870 DIPK2B Synonymous SNV L386L 0.008 0.008 0 0 9 3 0 0 2 1 0 0 0.002 114244 chr8 100994202 100994202 C T rs551799426 RGS22 Nonsynonymous SNV R927Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 114245 chrX 47705674 47705674 C T rs183846665 ZNF81 Nonsynonymous SNV A3V 0.003 0.003 0 0 4 1 0 0 1 0 0 0 Benign 15.7 114246 chr1 11595666 11595666 C T rs147919893 DISP3 Synonymous SNV L1261L 0.003 0.01 0.014 1 4 4 0.003 4 0 0 0 0 14.13 114247 chrX 5810972 5810972 G A NLGN4X Synonymous SNV I779I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.149 114248 chr8 145772709 145772709 G A ARHGAP39 Synonymous SNV S587S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.508 114249 chr8 103312296 103312296 T G rs750231418 UBR5 Nonsynonymous SNV H1013P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.86 114250 chrX 6995414 6995414 C T rs190326815 PUDP Synonymous SNV S119S 0.006 0.005 0 3 7 2 0.008 0 2 1 0 0 12.54 114251 chr1 11827079 11827079 C T rs763859250 C1orf167 Synonymous SNV H412H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.108 114252 chrX 70837390 70837390 G A rs188959001 CXCR3 Stop gain Q25X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 114253 chr8 17829941 17829941 G C rs201152808 PCM1 Nonsynonymous SNV V1230L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.97 114254 chr1 1222279 1222279 C T rs147245825 SCNN1D Nonsynonymous SNV P348L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.607 114255 chr8 10468979 10468979 G A rs770403429 RP1L1 Nonsynonymous SNV H877Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.061 114256 chr1 1336006 1336006 C T rs111876693 MRPL20-AS1 0 0 0.041 0 0 0 0 12 0 0 1 0 12.07 114257 chrX 9863933 9863933 G A rs373360048 SHROOM2 Nonsynonymous SNV R662H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.787 114258 chrY 21877372 21877372 T C KDM5D Synonymous SNV L727L 0.005 0.01 0 0 6 4 0 0 3 2 0 0 3.19 114259 chr10 100174841 100174841 G C rs117431460 PYROXD2 Nonsynonymous SNV P18A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.034 114260 chr1 149898455 149898455 G C rs143105666 SF3B4 Synonymous SNV T173T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.593 114261 chr1 906302 906302 C T rs41300090 PLEKHN1 Synonymous SNV A176A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 13.81 114262 chr1 909006 909006 C T rs200213253 PLEKHN1 Nonsynonymous SNV R439W 0.008 0.005 0 9 9 2 0.023 0 0 0 0 0 24.9 114263 chr1 982302 982302 C A rs149159118 AGRN Nonsynonymous SNV T1118K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 34 114264 chr8 22863614 22863614 C T rs139953909 RHOBTB2 Synonymous SNV Y153Y 0.003 0.005 0.007 6 4 2 0.015 2 0 0 0 0 Benign 9.891 114265 chr1 1309673 1309673 T C AURKAIP1 Nonsynonymous SNV M69V 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 15.68 114266 chr1 1356342 1356344 TCC - rs540396555 ANKRD65 E15del 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 114267 chr10 104596833 104596833 G A rs104894138 CYP17A1 Nonsynonymous SNV R96W 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 29 114268 chrX 152135784 152135784 T C rs369425289 ZNF185 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 16.39 114269 chrX 152686977 152686977 C T rs782495626 ZFP92 Nonsynonymous SNV A381V 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 11.56 114270 chr1 152128401 152128401 C T rs200503098 RPTN Nonsynonymous SNV G392S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 14.85 114271 chrX 152772517 152772517 C G rs200795283 BGN Synonymous SNV G261G 0 0 0 4 0 0 0.01 0 0 0 0 1 11.12 114272 chrX 41333517 41333517 C T rs369077278 NYX Nonsynonymous SNV R271C 0.004 0.003 0 3 5 1 0.008 0 2 0 0 1 Uncertain significance 24.2 114273 chr8 24350567 24350567 G A rs140635833 ADAM7 Nonsynonymous SNV C556Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 114274 chr1 1904401 1904401 G A rs201079921 CFAP74 Nonsynonymous SNV R254W 0.002 0 0 0 2 0 0 0 0 0 0 0 4.662 114275 chr8 24356751 24356751 G C rs150774634 ADAM7 Synonymous SNV V615V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.689 114276 chr8 131072829 131072829 T C rs117019764 ASAP1 Nonsynonymous SNV N1006S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.82 114277 chr10 115947595 115947595 G A rs763758347 TDRD1 Nonsynonymous SNV S2N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 114278 chr1 2576959 2576959 C T rs28547181 TTC34 Nonsynonymous SNV G757E 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 0.001 114279 chr1 879351 879353 CCA - SAMD11 P623del 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 114280 chr10 1061765 1061765 C G rs41294962 GTPBP4 Nonsynonymous SNV P561A 0.007 0.013 0 4 8 5 0.01 0 0 0 0 0 2.117 114281 chr1 154310129 154310129 T C rs764706745 ATP8B2 Synonymous SNV S381S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 114282 chr9 117804523 117804523 C T rs62638694 TNC Synonymous SNV R1741R 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Benign 12.88 114283 chr1 117509774 117509774 C T rs779715817 PTGFRN Synonymous SNV G627G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.28 114284 chr8 13959916 13959916 T C rs148638173 SGCZ Nonsynonymous SNV K204R 0.003 0 0 0 3 0 0 0 0 0 0 0 24 114285 chr1 119964624 119964624 C T rs35486059 HSD3B2 Nonsynonymous SNV A167V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 114286 chr1 155450947 155450947 G C rs757438960 ASH1L Nonsynonymous SNV P572A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 114287 chr8 3200913 3200913 A C rs147764737 CSMD1 Synonymous SNV L1178L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 114288 chr8 32505644 32505644 G T rs192228210 NRG1 Synonymous SNV S136S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.832 114289 chr8 141554348 141554348 G C rs142977065 AGO2 Synonymous SNV P601P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.147 114290 chr9 124622723 124622723 C T rs912156043 TTLL11 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 114291 chr8 37732735 37732735 G C rs139211525 RAB11FIP1 Nonsynonymous SNV S307C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.7 114292 chr8 38840056 38840056 T C rs777033515 HTRA4 Nonsynonymous SNV M385T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 114293 chr1 3389735 3389735 C T rs200646639 ARHGEF16 Synonymous SNV H372H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.679 114294 chr10 128192584 128192584 G A rs73373045 C10orf90 Synonymous SNV H395H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 2.475 114295 chr8 143846071 143846071 - GGGCCC LYNX1-SLURP2, SLURP2 P82_Y83insGP 0.001 0 0 0 1 0 0 0 0 0 0 0 114296 chr8 143846092 143846092 G C LYNX1-SLURP2, SLURP2 Nonsynonymous SNV I75M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 114297 chr1 156890604 156890604 C A rs766058530 LRRC71 Nonsynonymous SNV S3R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.37 114298 chr8 143857045 143857045 C T rs141786371 LYNX1, LYNX1-SLURP2 Synonymous SNV P40P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.31 114299 chr1 156905847 156905847 G C rs148989479 ARHGEF11 Nonsynonymous SNV S1505C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.312 114300 chr10 129172102 129172102 G A DOCK1 Nonsynonymous SNV E1164K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 114301 chr10 129242416 129242416 G A rs35124691 DOCK1 Synonymous SNV P1762P 0.001 0.01 0 0 1 4 0 0 0 1 0 0 14.84 114302 chr8 144643242 144643242 G A rs374934449 GSDMD Nonsynonymous SNV R217Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 114303 chr8 144651933 144651933 G A rs199752945 MROH6 Synonymous SNV D412D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.903 114304 chr10 123970722 123970722 T C rs2295876 TACC2 Nonsynonymous SNV L339P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 114305 chr1 152080066 152080066 C T rs140720320 TCHH Nonsynonymous SNV R1876Q 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 22.1 114306 chr1 6631098 6631098 T C rs893827726 TAS1R1 Synonymous SNV S107S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 114307 chr1 12294398 12294398 G T VPS13D Nonsynonymous SNV Q25H 0.006 0 0 0 7 0 0 0 0 0 0 0 24.4 114308 chr8 144808779 144808779 G A rs201459659 FAM83H Nonsynonymous SNV A951V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 114309 chr8 70970992 70970992 G A rs772594483 PRDM14 Synonymous SNV P423P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 114310 chr8 71053509 71053509 T C rs746009713 NCOA2 Nonsynonymous SNV M911V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.913 114311 chr8 74334889 74334889 T G rs114263344 STAU2 Nonsynonymous SNV I355L 0.036 0.021 0.027 15 42 8 0.038 8 0 0 0 0 23.1 114312 chr8 74334905 74334905 T C rs73318729 STAU2 Synonymous SNV E349E 0.036 0.021 0.031 15 42 8 0.038 9 0 0 0 0 2.483 114313 chr10 134999607 134999607 G A rs201213037 KNDC1 Nonsynonymous SNV R252Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.015 114314 chr1 15987472 15987472 C G rs750793943 RSC1A1 Nonsynonymous SNV A370G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 114315 chr8 145016597 145016627 GGCCGGCTCGCAGCCCCCGTCCAGCCAGCAC - rs782134237 PLEC C20Afs*12 0.002 0 0 0 2 0 0 0 0 0 0 0 114316 chr8 75737503 75737503 G A rs141176529 PI15 Nonsynonymous SNV V7I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.466 114317 chr1 16256824 16256824 T G rs12095818 SPEN Nonsynonymous SNV D1363E 0.012 0 0.003 3 14 0 0.008 1 0 0 0 0 0.372 114318 chr8 75944446 75944446 G A rs747427413 CRISPLD1 Nonsynonymous SNV G305E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 114319 chr1 16257925 16257925 T C rs140662069 SPEN Synonymous SNV Y1730Y 0.012 0 0 3 14 0 0.008 0 0 0 0 0 0.064 114320 chr1 16264453 16264453 G A rs145784462 SPEN Synonymous SNV R3552R 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 12.82 114321 chr1 160124909 160124909 T A ATP1A4 Synonymous SNV T94T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.1 114322 chr9 132402834 132402834 T A rs148420909 ASB6 Nonsynonymous SNV N94I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 114323 chr1 154178083 154178083 G A rs144170950 C1orf189 Nonsynonymous SNV T22M 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 4.37 114324 chr10 13782517 13782517 G A rs10508466 FRMD4A Synonymous SNV I219I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.6 114325 chr8 145557390 145557390 G C rs561828722 SCRT1 Synonymous SNV G168G 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 6.483 114326 chr8 145584337 145584337 G A rs146292053 SLC52A2 Synonymous SNV P363P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 9.456 114327 chr1 154920168 154920168 G A rs549672690 PBXIP1 Nonsynonymous SNV R75W 0.002 0 0 0 2 0 0 0 0 0 0 0 14.47 114328 chr8 145741941 145741941 G A rs769976284 RECQL4 Nonsynonymous SNV P188S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.9 114329 chr10 134218487 134218487 G A rs374156891 PWWP2B Synonymous SNV P161P 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 9.268 114330 chr1 165532833 165532833 G A rs150046093 LRRC52 Synonymous SNV T238T 0.003 0.008 0.014 3 3 3 0.008 4 0 0 0 0 15.29 114331 chr10 25887999 25887999 G A rs199918094 GPR158 Synonymous SNV E1148E 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.018 114332 chr1 156626837 156626837 G A rs762530903 BCAN Nonsynonymous SNV G720S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 33 114333 chr8 17554847 17554847 T C rs75287318 MTUS1 Nonsynonymous SNV I14V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 17.64 114334 chr8 17611751 17611751 G A rs373516410 MTUS1 Synonymous SNV P522P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.049 114335 chr1 169509739 169509739 T G rs6007 F5 Nonsynonymous SNV E1530A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.41 114336 chr10 27400990 27400990 G A rs764985814 YME1L1 Synonymous SNV L656L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 2.192 114337 chr10 1405265 1405265 G A rs372626311 ADARB2 Synonymous SNV P345P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.275 114338 chr9 1057260 1057260 - T rs772480908 DMRT2 Frameshift insertion V385Cfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 114339 chr10 17171236 17171236 T C CUBN Nonsynonymous SNV T46A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.055 114340 chr10 105233395 105233395 A G CALHM3 Nonsynonymous SNV C204R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 114341 chr1 158226022 158226022 G A rs142655599 CD1A Nonsynonymous SNV R174H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.38 114342 chr9 137734124 137734124 T C rs532411382 COL5A1 Nonsynonymous SNV V1831A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 114343 chr10 35929309 35929317 GCGCCCCCC - rs765701909 FZD8 G354_A356del 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 114344 chr9 112898996 112898996 G A rs147833425 PALM2AKAP2 Nonsynonymous SNV R249Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.217 114345 chr9 138903545 138903545 G A rs79175912 NACC2 Synonymous SNV D527D 0.009 0.01 0.007 6 10 4 0.015 2 0 0 0 0 0.02 114346 chr9 138908225 138908225 T G rs771779799 NACC2 Nonsynonymous SNV I313L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.8 114347 chr1 176175910 176175910 A G rs140755121 COP1 Synonymous SNV L69L 0.005 0.008 0.031 5 6 3 0.013 9 0 0 0 0 6.444 114348 chr8 22785142 22785142 G T rs202161701 PEBP4 Nonsynonymous SNV P29Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.009 114349 chr1 17657635 17657635 C T rs202100380 PADI4 Synonymous SNV G88G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.76 114350 chr10 26243811 26243811 C T rs139958275 MYO3A Synonymous SNV D59D 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.9 114351 chr10 128798495 128798495 C T rs61753108 DOCK1 Synonymous SNV R303R 0.009 0.01 0.007 9 11 4 0.023 2 1 0 0 0 14.19 114352 chr1 179337954 179337954 - A rs758416612 AXDND1 Frameshift insertion N42Kfs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 114353 chr10 115618325 115618325 T A rs141559345 NHLRC2 Nonsynonymous SNV Y73N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 114354 chr1 160192482 160192482 A G DCAF8 Nonsynonymous SNV C467R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 114355 chr1 179852065 179852065 C T rs141391430 TOR1AIP1 Nonsynonymous SNV S143F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 19.43 114356 chr1 27206189 27206189 C A rs753098069 GPN2 Nonsynonymous SNV E304D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.26 114357 chr1 182025856 182025856 G A rs201458813 ZNF648 Synonymous SNV T430T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.48 114358 chr1 28176708 28176708 C T rs150551499 PPP1R8 Synonymous SNV P45P 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 8.428 114359 chr10 33474638 33474638 G T rs143858258 NRP1 Synonymous SNV G777G 0.005 0.01 0.007 3 6 4 0.008 2 0 0 0 0 Benign 9.082 114360 chr1 183617706 183617706 G A rs370657788 APOBEC4 Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.467 114361 chr10 35929584 35929584 A G FZD8 Synonymous SNV A258A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.927 114362 chr10 395368 395368 G A rs79727010 DIP2C Synonymous SNV C1004C 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign 13.63 114363 chr1 29475295 29475295 C T rs776872828 SRSF4 Nonsynonymous SNV R371H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 15.63 114364 chr8 28929739 28929739 G A rs117202308 KIF13B Nonsynonymous SNV P1539L 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 17.88 114365 chr10 44112702 44112702 A G rs146214560 ZNF485 Nonsynonymous SNV H313R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 114366 chr1 29631898 29631898 G A rs141019104 PTPRU Synonymous SNV L926L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 12.6 114367 chr9 123673673 123673673 T C rs142785682 TRAF1 Nonsynonymous SNV N153S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 22.2 114368 chr9 123688263 123688263 T C rs144024378 TRAF1 Nonsynonymous SNV K31E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 114369 chr10 124457422 124457422 G A rs61978644 C10orf120 Synonymous SNV L279L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.941 114370 chr10 13541983 13541983 T C rs138181949 BEND7 Synonymous SNV G29G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.693 114371 chr1 19229001 19229006 GGCGCC - rs768891033 ALDH4A1 P6_A7del 0 0 0.003 0 0 0 0 1 0 0 0 0 114372 chr9 125562674 125562674 C G OR1K1 Nonsynonymous SNV H91Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.647 114373 chr10 48438647 48438649 GCA - rs34420310 GDF10 L21del 0.005 0 0 3 6 0 0.008 0 0 0 0 0 114374 chr1 27153444 27153449 GCAGCG - rs878922433 ZDHHC18 G60_S61del 0 0 0 1 0 0 0.003 0 0 0 0 0 114375 chr1 35453689 35453689 T G rs574340576 ZMYM6 Nonsynonymous SNV Q998H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.4 114376 chr10 50004455 50004455 C A WDFY4 Nonsynonymous SNV T1457N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 114377 chr8 43054669 43054669 T C HGSNAT Nonsynonymous SNV I558T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 114378 chr8 52811571 52811571 T C rs775269366 PCMTD1 Nonsynonymous SNV Y34C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.521 114379 chr10 21784519 21784519 C T rs374128607 MIR1915HG 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.582 114380 chr8 55539490 55539490 T C rs763034533 RP1 Synonymous SNV Y1016Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.001 114381 chr10 134145115 134145115 C A rs766912647 STK32C Synonymous SNV P42P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 19.11 114382 chr10 50863188 50863188 G A rs80097077 CHAT Nonsynonymous SNV R443Q 0.013 0.016 0.01 5 15 6 0.013 3 0 0 0 0 Benign/Likely benign 29.4 114383 chr10 134218965 134218965 C T PWWP2B Nonsynonymous SNV P321S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 114384 chr10 134686269 134686269 G A rs765842621 CFAP46 Synonymous SNV H1474H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 114385 chr1 180910200 180910200 A G rs201945338 KIAA1614 Nonsynonymous SNV T980A 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 0.001 114386 chr9 129958862 129958862 G T rs57728614 RALGPS1 Nonsynonymous SNV G383C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 22.1 114387 chr9 130164957 130164957 G A rs3802366 SLC2A8 Synonymous SNV Q53Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.1 114388 chr9 130269357 130269357 C T rs61751870 NIBAN2 Nonsynonymous SNV G657S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.283 114389 chr9 130279255 130279255 G A rs140486340 NIBAN2 Nonsynonymous SNV A272V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 114390 chr9 130279279 130279279 T C rs61742100 NIBAN2 Nonsynonymous SNV H264R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.371 114391 chr10 27066073 27066073 G A rs145810798 ABI1 Nonsynonymous SNV A128V 0 0.005 0 0 0 2 0 0 0 0 0 0 32 114392 chr10 5790973 5790973 A C rs200042693 TASOR2 Synonymous SNV T1782T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 114393 chr8 68007917 68007917 A C rs776541152 CSPP1 Nonsynonymous SNV R6S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 114394 chr9 35811229 35811229 A G rs61758539 SPAG8 Nonsynonymous SNV Y272H 0.005 0.013 0.007 7 6 5 0.018 2 0 0 0 0 5.062 114395 chr1 183204796 183204796 C T rs139718245 LAMC2 Nonsynonymous SNV A796V 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.59 114396 chr9 35906614 35906614 T C rs764654737 HRCT1 Synonymous SNV H110H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 114397 chr1 201798434 201798434 C T rs139186949 IPO9 Synonymous SNV L33L 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 20.3 114398 chr10 7290561 7290561 C T rs144205554 SFMBT2 Synonymous SNV E307E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.897 114399 chr1 42922928 42922928 G A rs200337358 PPCS Synonymous SNV A173A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 13.19 114400 chr9 37521584 37521584 T C rs375009439 FBXO10 Nonsynonymous SNV S728G 0 0.005 0 2 0 2 0.005 0 0 0 0 0 17.8 114401 chr1 43296522 43296522 G A rs56025238 ERMAP Nonsynonymous SNV G57R 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Likely benign 6.793 114402 chr1 36638200 36638200 G A rs747756888 MAP7D1 Nonsynonymous SNV R199Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 114403 chr8 77616519 77616519 G C rs56261025 ZFHX4 Nonsynonymous SNV V66L 0.02 0.018 0.027 11 23 7 0.028 8 0 0 0 0 0.262 114404 chr1 43870071 43870071 C A rs41312024 SZT2 Synonymous SNV I116I 0.02 0.018 0 1 23 7 0.003 0 0 0 0 0 Benign 19.96 114405 chr9 131708138 131708138 G A rs767693634 DOLK Nonsynonymous SNV A482V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 114406 chr9 5185365 5185365 A G rs2149554 INSL6 Nonsynonymous SNV F80L 0.002 0.008 0.007 0 2 3 0 2 0 0 1 0 12.59 114407 chr10 69935084 69935084 T C MYPN Nonsynonymous SNV S857P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 114408 chr10 76993937 76993937 G T rs767889816 COMTD1 Nonsynonymous SNV A228E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.007 114409 chr8 95793372 95793372 G A DPY19L4 Nonsynonymous SNV V565M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 114410 chr1 20672051 20672051 G A rs41264537 VWA5B1 Nonsynonymous SNV R910Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 114411 chr8 99264792 99264792 C T rs144226575 NIPAL2 Nonsynonymous SNV G92D 0.012 0.003 0 1 14 1 0.003 0 0 0 0 0 13.52 114412 chr1 43233204 43233204 C A rs201893746 C1orf50 Nonsynonymous SNV T35N 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 0.073 114413 chr1 43241039 43241039 C - rs775312945 C1orf50 N193Tfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 114414 chr10 85936255 85936255 G A C10orf99 Synonymous SNV K30K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.109 114415 chr10 860922 860922 G A rs145450206 LARP4B Nonsynonymous SNV T595M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.22 114416 chr9 135277621 135277623 CTC - rs762883317 TTF1 E196del 0.001 0 0 0 1 0 0 0 0 0 0 0 114417 chr1 208072567 208072567 C T rs144312803 CD34 Synonymous SNV T89T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.418 114418 chr1 203053071 203053071 A G MYOG Synonymous SNV S214S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.157 114419 chr9 85615377 85615377 T C rs147216417 RASEF Nonsynonymous SNV R516G 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 25.8 114420 chr9 88938519 88938519 G A TUT7 Nonsynonymous SNV H593Y 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 0.069 114421 chr10 75283399 75283399 C T rs377052665 USP54 Synonymous SNV A711A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 114422 chr10 31750017 31750017 A G rs765378809 ZEB1 Nonsynonymous SNV D20G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 114423 chr10 32635727 32635727 C T EPC1 Synonymous SNV P39P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.48 114424 chr10 35897003 35897003 G A rs368902279 GJD4 Nonsynonymous SNV V188M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 29.7 114425 chr10 3824404 3824404 G C rs768898799 KLF6 Synonymous SNV T35T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.662 114426 chr1 216143995 216143995 G A rs151057466 USH2A Nonsynonymous SNV T2310M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 114427 chr10 97174316 97174316 G T rs114290141 SORBS1 Nonsynonymous SNV P240T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 24.4 114428 chr9 99408211 99408211 G C rs200680221 PRXL2C Nonsynonymous SNV P173A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 15.69 114429 chr1 216497659 216497659 T C rs148447919 USH2A Synonymous SNV Q393Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.19 114430 chr10 85962785 85962785 C T rs141173656 CDHR1 Nonsynonymous SNV T230I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 114431 chr9 112211135 112211135 C T rs770041048 PTPN3 Synonymous SNV R123R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 114432 chr1 52811739 52811739 A T rs769454524 ZFYVE9 Nonsynonymous SNV Y1316F 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 114433 chrX 104464836 104464836 C T TEX13A Synonymous SNV Q82Q 0.003 0.005 0 0 3 2 0 0 0 1 0 0 4.332 114434 chr10 99197008 99197008 T A rs143980729 EXOSC1 Nonsynonymous SNV N75Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 114435 chrX 109964745 109964745 G T rs138293229 CHRDL1 Synonymous SNV P105P 0.003 0.005 0 0 3 2 0 0 0 1 0 0 7.886 114436 chr1 222803471 222803471 A G MIA3 Nonsynonymous SNV N970S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 114437 chr9 114489989 114489989 G A rs186408064 SHOC1 Synonymous SNV S483S 0.006 0 0 6 7 0 0.015 0 0 0 0 0 1.42 114438 chr1 68619258 68619258 T C rs765493613 WLS Nonsynonymous SNV M158V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 114439 chr9 139872070 139872070 C T rs150560538 PTGDS Synonymous SNV L14L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 10.18 114440 chr9 115652713 115652713 A G rs7025717 SLC46A2 Synonymous SNV L83L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 0.251 114441 chr1 220160660 220160660 C T rs367694212 EPRS1 Synonymous SNV S954S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.49 114442 chr9 140087025 140087027 TCC - rs376810326 TPRN E621del 0.002 0 0 0 2 0 0 0 0 0 0 0 114443 chr9 140120439 140120447 CTGCTGCCA - rs750331604 CYSRT1 C127_C129del 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 114444 chrX 144904787 144904787 G T SLITRK2 Nonsynonymous SNV V282F 0.001 0.008 0 0 1 3 0 0 0 1 0 0 0.002 114445 chr10 95994038 95994038 C T rs751878309 PLCE1 Nonsynonymous SNV P420L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 114446 chr1 62737205 62737205 G A rs139344628 KANK4 Nonsynonymous SNV R25C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 114447 chr1 62915972 62915972 C G rs145513105 USP1 Nonsynonymous SNV L560V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 114448 chr1 225270424 225270424 A T rs201015646 DNAH14 Nonsynonymous SNV N1104Y 0.004 0.008 0.024 3 5 3 0.008 7 0 0 2 0 12.56 114449 chr10 50953438 50953438 G A rs564954722 OGDHL Synonymous SNV Y318Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.265 114450 chr10 98945419 98945419 G A SLIT1 Nonsynonymous SNV P5S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.62 114451 chr10 75011726 75011726 C G rs146931290 MRPS16 Synonymous SNV L23L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.57 114452 chr10 75532727 75532727 C T rs766466512 FUT11 Synonymous SNV L212L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.799 114453 chr10 5951203 5951203 C T rs41306405 FBH1 Synonymous SNV P248P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.7 114454 chr11 100226900 100226900 G A rs34539243 CNTN5 Synonymous SNV S1010S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.673 114455 chr1 231114924 231114924 G T rs140251959 ARV1 Nonsynonymous SNV A25S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 9.989 114456 chr1 23189715 23189715 G C rs111569109 MIR4253 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.992 114457 chr1 229794901 229794901 C T rs140673724 URB2 Synonymous SNV L1478L 0.005 0 0.003 0 6 0 0 1 0 0 0 0 16.96 114458 chr9 2718180 2718180 C A rs146659188 KCNV2 Nonsynonymous SNV D147E 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Uncertain significance 23.3 114459 chr10 696793 696793 G C rs753488933 PRR26 Nonsynonymous SNV G96R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.54 114460 chr10 88419655 88419655 T G OPN4 Synonymous SNV A268A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.752 114461 chr9 33953294 33953294 G A rs150275904 UBAP2 Nonsynonymous SNV P296S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 1.627 114462 chr1 23836501 23836501 C T rs752620979 E2F2 Synonymous SNV A395A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 114463 chr10 73052281 73052281 A G UNC5B Nonsynonymous SNV Y570C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 114464 chr10 95085687 95085687 G A rs774123578 MYOF Nonsynonymous SNV P1710S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.62 114465 chr10 73405653 73405653 G A rs397517304 CDH23 Synonymous SNV P402P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.387 114466 chr10 73551007 73551007 C T rs371570295 CDH23 Synonymous SNV L2056L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.773 114467 chr10 73862114 73862114 G T ASCC1 Synonymous SNV G338G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.518 114468 chr10 75155811 75155811 A G rs754426993 ANXA7 Synonymous SNV Y124Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.902 114469 chr10 75185802 75185802 C T rs778746494 MSS51 Nonsynonymous SNV R279H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 114470 chr9 134027138 134027138 A G rs61756081 NUP214 Nonsynonymous SNV I755V 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 1 Benign 23.6 114471 chr10 96602710 96602710 G C rs144036596 CYP2C19 Nonsynonymous SNV D360H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 114472 chr10 7605258 7605261 CTCC - rs766313151 ITIH5 G658Rfs*7 0.002 0 0.003 0 2 0 0 1 0 0 0 0 114473 chr10 7605262 7605262 C A rs770406264 ITIH5 Synonymous SNV V657V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.12 114474 chr1 247263690 247263690 C G rs147774397 ZNF669 Nonsynonymous SNV V375L 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 0.302 114475 chr1 247265410 247265410 C T rs61730465 ZNF669 Synonymous SNV S3S 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 10.49 114476 chr9 5772572 5772572 T G rs778574444 RIC1 Nonsynonymous SNV C1172G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 114477 chr10 102257890 102257890 C A rs142637437 SEC31B Stop gain E587X 0.003 0 0 0 4 0 0 0 0 0 0 0 38 114478 chr11 113618421 113618421 A C ZW10 Synonymous SNV T368T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.051 114479 chr1 247769425 247769425 G A rs56795889 OR2G3 Nonsynonymous SNV E180K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 27.8 114480 chr10 102286278 102286278 G A rs150699698 NDUFB8 Nonsynonymous SNV R116C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 114481 chr1 247836078 247836078 A C rs61742803 OR13G1 Nonsynonymous SNV I89S 0.003 0 0 0 3 0 0 0 0 0 0 0 24 114482 chr10 102744589 102744589 C A rs150176473 SEMA4G Nonsynonymous SNV P683H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.715 114483 chr1 114193691 114193691 G A rs142998380 MAGI3 Nonsynonymous SNV R768H 0.009 0.008 0.007 6 10 3 0.015 2 0 0 0 0 35 114484 chr10 103826422 103826422 T A HPS6 Synonymous SNV P397P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.456 114485 chr1 247978586 247978586 T C rs75017395 OR14A16 Nonsynonymous SNV Y149C 0.003 0 0 0 3 0 0 0 0 0 0 0 6.413 114486 chr11 116652947 116652947 G A ZPR1 Nonsynonymous SNV P315L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 27.8 114487 chr9 136231723 136231723 A C rs782795084 SURF4 Nonsynonymous SNV F62C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.1 114488 chr1 116226668 116226668 T C rs147220426 VANGL1 Synonymous SNV H348H 0.009 0.01 0 6 10 4 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.016 114489 chr10 105182788 105182788 G A rs377375510 PDCD11 Nonsynonymous SNV M847I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 114490 chr11 107328468 107328468 G C CWF19L2 Synonymous SNV T25T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.073 114491 chr1 248112794 248112794 G C rs200574966 OR2L8 Nonsynonymous SNV G212A 0.001 0.003 0.031 0 1 1 0 9 0 0 0 0 0.002 114492 chr11 118354973 118354973 A G rs782782893 KMT2A Nonsynonymous SNV S1388G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.23 114493 chr11 118526583 118526583 G A rs148871740 PHLDB1 Nonsynonymous SNV R1325H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23.1 114494 chr10 91143763 91143763 A G IFIT1B Synonymous SNV G231G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.173 114495 chr1 248224618 248224618 C G rs113050484 OR2L3 Nonsynonymous SNV A212G 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.005 114496 chr1 248263495 248263495 T G rs74153072 OR2L13 Nonsynonymous SNV L273R 0.006 0.005 0 0 7 2 0 0 0 1 0 0 24.3 114497 chr9 137688701 137688701 A G rs61736966 COL5A1 Nonsynonymous SNV N951S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Benign/Likely benign 18.1 114498 chr1 248308749 248308749 A G rs764988039 OR2M5 Synonymous SNV Q100Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.196 114499 chr1 248487058 248487058 G C rs114086448 OR2M7 Nonsynonymous SNV D271E 0.003 0 0 0 3 0 0 0 0 0 0 0 13.4 114500 chr1 111778724 111778724 C T rs139820161 CHI3L2 Synonymous SNV S218S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.35 114501 chr1 248512990 248512990 G T rs74467694 OR14C36 Nonsynonymous SNV R305I 0.003 0 0 0 4 0 0 0 0 0 0 0 14.44 114502 chr9 90272954 90272954 C T rs755550317 DAPK1 Nonsynonymous SNV T612M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 114503 chr10 95791316 95791316 G A rs61749239 PLCE1 Synonymous SNV V171V 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.049 114504 chr9 95237048 95237048 A G rs150545989 ASPN Synonymous SNV D44D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 114505 chr1 249141854 249141854 C A rs190834079 ZNF672 Synonymous SNV P127P 0.003 0 0 0 4 0 0 0 0 0 0 0 13.93 114506 chr1 25889597 25889597 G C rs201198223 LDLRAP1 Nonsynonymous SNV G190A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.255 114507 chr9 139360469 139360469 G A rs371893914 SEC16A Synonymous SNV P1416P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.704 114508 chr11 122722440 122722440 C A rs34397316 CRTAM Nonsynonymous SNV A78D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 12.92 114509 chr1 26232907 26232908 CT - rs555918619 MIR3917 0 0 0.01 0 0 0 0 3 0 0 0 0 114510 chr9 139400163 139400163 G A rs749570626 NOTCH1 Synonymous SNV N1395N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.831 114511 chr1 26612412 26612412 G A rs566971320 UBXN11 Nonsynonymous SNV R106W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 114512 chrX 100292945 100292945 A G rs147187263 TRMT2B Synonymous SNV S133S 0.003 0 0 0 3 0 0 0 1 0 0 0 0.738 114513 chr9 139935335 139935335 C T NPDC1 Nonsynonymous SNV V163M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 114514 chrX 106046185 106046185 - GGG rs749849931 TBC1D8B G35_E36insG 0.002 0 0 0 2 0 0 0 0 0 0 0 114515 chr11 118919560 118919560 G A rs45450894 HYOU1 Synonymous SNV V677V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 11.21 114516 chr11 119050987 119050987 C T rs372684482 NLRX1 Nonsynonymous SNV R753W 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 29.1 114517 chr10 123600713 123600713 G A rs144950702 ATE1 Synonymous SNV D251D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.938 114518 chr1 32267297 32267297 T C SPOCD1 Nonsynonymous SNV K465E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 114519 chr1 32623920 32623920 G A rs61750963 KPNA6 Synonymous SNV R128R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.629 114520 chr2 16736368 16736368 C T FAM49A Nonsynonymous SNV D293N 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 114521 chr1 150484001 150484001 C T rs144641352 ECM1 Synonymous SNV C286C 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 8.173 114522 chr11 124310695 124310695 C T rs748007339 OR8B8 Nonsynonymous SNV G96E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.93 114523 chr11 119983159 119983159 T C rs766688993 TRIM29 Nonsynonymous SNV N316S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 114524 chr11 124506989 124506989 G A SIAE Nonsynonymous SNV A477V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 114525 chr1 151065732 151065732 G A rs143714520 GABPB2 Nonsynonymous SNV R58H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.07 114526 chr1 35908603 35908603 C T KIAA0319L Nonsynonymous SNV G895S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 114527 chr10 126686606 126686606 G A rs372293905 CTBP2 Synonymous SNV S232S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.89 114528 chr2 24149548 24149548 C T rs376039629 ATAD2B Synonymous SNV A31A 0.02 0.023 0.003 1 23 9 0.003 1 0 0 0 0 18.35 114529 chrX 134426281 134426281 C T rs782160515 ZNF75D Stop gain W177X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 114530 chr11 10650350 10650350 G A rs190761149 MRVI1 Synonymous SNV S191S 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 8.454 114531 chr10 129913367 129913367 C T rs149807717 MKI67 Synonymous SNV T435T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 114532 chr10 129914162 129914162 G C rs143381225 MKI67 Nonsynonymous SNV D170E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.36 114533 chr11 123886400 123886400 A C OR10G4 Nonsynonymous SNV N40T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 114534 chr1 38027815 38027815 A G rs142558790 DNALI1 Nonsynonymous SNV Q237R 0.006 0.005 0.01 0 7 2 0 3 0 0 1 0 24 114535 chr9 2717745 2717748 CAAA - rs786205121 KCNV2 K3Rfs*96 0.001 0 0 0 1 0 0 0 0 0 0 0 114536 chr2 27150168 27150168 G A rs139678780 DPYSL5 Synonymous SNV S156S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 12.25 114537 chr1 153066050 153066050 A C rs138808935 SPRR2E Nonsynonymous SNV S60A 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 0.016 114538 chr11 10874605 10874605 G A rs750596364 ZBED5 Nonsynonymous SNV R630C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 22.8 114539 chr11 1263648 1263648 G A rs151293115 MUC5B Synonymous SNV V1846V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.264 114540 chr11 124189787 124189787 A T OR8D2 Nonsynonymous SNV F103I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 114541 chr11 124189796 124189796 G C OR8D2 Nonsynonymous SNV Q100E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 114542 chr11 124189797 124189797 A T OR8D2 Synonymous SNV T99T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 114543 chr9 34977228 34977228 C G PHF24 Nonsynonymous SNV S333C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 114544 chr11 124626569 124626569 G A rs61753651 ESAM Nonsynonymous SNV R107W 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 25.2 114545 chr11 102567130 102567130 G A rs567330519 MMP27 Nonsynonymous SNV R292C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 114546 chr1 41493895 41493895 T C rs867769913 SCMH1 Nonsynonymous SNV I472V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 114547 chr11 102589166 102589166 C T rs549723982 MMP8 Nonsynonymous SNV D255N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 114548 chr11 102593329 102593329 C T rs61747594 MMP8 Nonsynonymous SNV V60I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.29 114549 chr1 154794621 154794621 G A KCNN3 Synonymous SNV L325L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.87 114550 chr1 41978849 41978849 C T rs141142079 HIVEP3 Nonsynonymous SNV V2015M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.849 114551 chr1 159166949 159166949 G A rs547141122 CADM3-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.043 114552 chr11 102826025 102826025 A G rs553953391 MMP13 Synonymous SNV V106V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.29 114553 chr1 43204145 43204145 G A rs867064302 CLDN19 Nonsynonymous SNV P112L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.8 114554 chr1 43352995 43352995 A T rs72669421 LOC339539 0 0 0.003 0 0 0 0 1 0 0 0 0 2.712 114555 chr2 31010121 31010121 A G rs776108151 CAPN13 Nonsynonymous SNV L24S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 114556 chrX 19387332 19387332 G A rs148312150 MAP3K15 Stop gain R1136X 0.006 0 0.027 2 7 0 0.005 8 2 0 3 1 39 114557 chr1 43898045 43898045 G A rs143185010 SZT2 Nonsynonymous SNV E1736K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.21 114558 chrX 2994679 2994679 G A rs140752032 ARSF Synonymous SNV A84A 0.019 0.029 0.007 2 22 11 0.005 2 5 3 1 0 10.73 114559 chr1 45797707 45797707 C T rs147718169 MUTYH Nonsynonymous SNV V186M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.68 114560 chr9 5832787 5832787 G A rs780516389 ERMP1 Synonymous SNV L81L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.442 114561 chr11 126301248 126301248 G A rs770530243 KIRREL3 Nonsynonymous SNV R588W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 114562 chr9 6007711 6007711 T C KIAA2026 Nonsynonymous SNV E26G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.93 114563 chr9 6254467 6254467 G A rs148943384 IL33 Nonsynonymous SNV G50S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.24 114564 chr2 39187008 39187008 G C rs201925961 ARHGEF33 Nonsynonymous SNV S521T 0.015 0.008 0.007 4 18 3 0.01 2 0 0 0 0 22.6 114565 chr11 1093474 1093474 C A rs751681897 MUC2 Nonsynonymous SNV P1765T 0.008 0 0 0 9 0 0 0 0 0 0 0 0.062 114566 chr1 166987139 166987139 T C rs41270684 MAEL Synonymous SNV Y297Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.394 114567 chrX 44171875 44171875 C T rs61636783 EFHC2 Nonsynonymous SNV C57Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.002 114568 chr11 118984976 118984976 A G C2CD2L Nonsynonymous SNV T604A 0 0.003 0 0 0 1 0 0 0 0 0 0 25 114569 chr11 111591346 111591346 G T SIK2 Nonsynonymous SNV R547L 0.003 0 0 0 4 0 0 0 0 0 0 0 21.3 114570 chr2 46842119 46842119 A G rs113562214 PIGF Nonsynonymous SNV V62A 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 Benign 12.31 114571 chr2 48030641 48030641 C G rs371568610 MSH6 Synonymous SNV T955T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.008 114572 chr1 158724811 158724811 G A rs114533687 OR6K6 Nonsynonymous SNV G69E 0.009 0 0.003 9 11 0 0.023 1 0 0 0 0 23.5 114573 chr9 78942946 78942946 C T rs61744763 PCSK5 Nonsynonymous SNV T1427I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 18.01 114574 chr11 119291056 119291056 C T rs747146569 THY1 Synonymous SNV T26T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.3 114575 chr2 54895512 54895512 G A SPTBN1 Nonsynonymous SNV A2301T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 114576 chr2 55080943 55080943 A G EML6 Synonymous SNV G536G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 10.04 114577 chr1 54704829 54704829 T C rs60925522 SSBP3 Synonymous SNV P273P 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 5.131 114578 chr11 12316350 12316350 - CTCCTCCTC MICALCL P470_T471insPPP 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 114579 chr1 55224702 55224702 C T rs749761872 PARS2 Nonsynonymous SNV V45M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.422 114580 chr11 1775126 1775126 C T rs370282882 CTSD Nonsynonymous SNV M326I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.35 114581 chr1 172558773 172558773 T C rs369972222 SUCO Synonymous SNV N281N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 114582 chr1 161697149 161697149 G T rs16858529 FCRLB Nonsynonymous SNV R271L 0.018 0.018 0.01 6 21 7 0.015 3 1 0 0 0 12.53 114583 chr2 64779256 64779256 C G rs141822775 AFTPH Nonsynonymous SNV S216R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 16.1 114584 chr2 65248061 65248061 G A rs144265531 SLC1A4 Synonymous SNV T162T 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign/Likely benign 13.59 114585 chrX 79985516 79985516 T C rs769459974 BRWD3 Synonymous SNV L377L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.507 114586 chrX 80064522 80064522 T C BRWD3 Nonsynonymous SNV E37G 0.003 0 0 0 3 0 0 0 1 0 0 0 23 114587 chr1 5927130 5927130 C T rs137932153 NPHP4 Nonsynonymous SNV R661H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 25 114588 chr1 62120325 62120325 T - rs773838606 MGC34796 0 0 0.003 0 0 0 0 1 0 0 0 0 114589 chr1 62120326 62120326 A C rs865831123 MGC34796 0 0 0.003 0 0 0 0 1 0 0 0 0 0.678 114590 chr1 62120545 62120545 C T rs373136595 MGC34796 0 0 0.003 0 0 0 0 1 0 0 0 0 5.143 114591 chr11 118422984 118422984 C T rs782279788 IFT46 Nonsynonymous SNV E184K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 114592 chr11 118513050 118513050 G A rs782200510 PHLDB1 Nonsynonymous SNV A939T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.437 114593 chr9 96714534 96714534 T A BARX1 Nonsynonymous SNV E226V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 114594 chr2 70444115 70444115 G A rs772264529 TIA1 Synonymous SNV N86N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.07 114595 chr2 70486567 70486567 T G PCYOX1 Nonsynonymous SNV I63R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 114596 chr9 97690733 97690733 G A rs142764274 AOPEP Synonymous SNV Q527Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 7.029 114597 chr1 180063037 180063037 G C rs142980956 CEP350 Nonsynonymous SNV E2599D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 114598 chr10 101594176 101594176 C T rs142715085 ABCC2 Nonsynonymous SNV R1100C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 29.5 114599 chr11 33358659 33358659 A G rs767542517 HIPK3 Synonymous SNV E420E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.885 114600 chr2 74460685 74460685 C T rs3796109 SLC4A5 Synonymous SNV T813T 0.013 0.021 0.027 1 15 8 0.003 8 0 0 0 0 16.06 114601 chr10 102768383 102768383 A G rs569520095 PDZD7 Synonymous SNV D981D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.244 114602 chr2 74588681 74588681 C T rs553822174 DCTN1 Nonsynonymous SNV R1122Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23.5 114603 chr11 34156063 34156063 A G NAT10 Nonsynonymous SNV Q542R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 114604 chr2 77745926 77745926 A G rs754823684 LRRTM4 Nonsynonymous SNV Y358H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.377 114605 chr2 79255377 79255377 C T rs61746408 REG3G Nonsynonymous SNV P122L 0.002 0 0 0 2 0 0 0 0 0 0 0 32 114606 chr10 103892878 103892878 G A rs921911081 PPRC1 Nonsynonymous SNV G18D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 114607 chr2 79313597 79313597 C A rs546205053 REG1B Nonsynonymous SNV V73L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.19 114608 chr1 185985250 185985250 A T rs141581919 HMCN1 Synonymous SNV I1690I 0.008 0 0.01 4 9 0 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.061 114609 chr10 104592872 104592872 C G rs746480412 CYP17A1 Nonsynonymous SNV D283H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 114610 chr1 76210524 76210524 T C rs17647178 DLSTP1 0 0 0.065 0 0 0 0 19 0 0 9 0 10.4 114611 chr1 76877983 76877983 C G rs768308709 ST6GALNAC3 Nonsynonymous SNV I103M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 114612 chr1 178489903 178489903 C G rs12079481 TEX35 Nonsynonymous SNV A154G 0.004 0.008 0.003 7 5 3 0.018 1 0 0 0 0 11.78 114613 chr11 123894522 123894522 A G rs115910557 OR10G9 Nonsynonymous SNV D268G 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 17.62 114614 chr11 123900841 123900841 A G rs142841328 OR10G8 Nonsynonymous SNV N171S 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 4.721 114615 chr11 31484817 31484817 G A rs78159446 IMMP1L Nonsynonymous SNV R3C 0.008 0.003 0.003 4 9 1 0.01 1 0 0 0 0 34 114616 chr1 179959750 179959750 A G rs140306241 CEP350 Nonsynonymous SNV R77G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.6 114617 chr10 5791130 5791130 C T rs371663458 TASOR2 Stop gain R1835X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 114618 chr10 113919768 113919768 - C GPAM Frameshift insertion P602Sfs*3 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 114619 chr11 124618346 124618346 A G rs111738856 VSIG2 Nonsynonymous SNV V264A 0.006 0.003 0.02 1 7 1 0.003 6 0 0 0 0 2.51 114620 chr1 89322983 89322983 T A rs138805281 GTF2B Nonsynonymous SNV E241D 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 5.109 114621 chr1 89599002 89599002 A G rs374167387 GBP7 Nonsynonymous SNV M534T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 114622 chr10 70266470 70266470 A G rs755474503 SLC25A16 Nonsynonymous SNV F77L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 114623 chr2 101591862 101591862 C T NPAS2-AS1 0.004 0.008 0 0 5 3 0 0 0 0 0 0 5.618 114624 chrX 153035992 153035992 T C rs782610913 PLXNB3 Synonymous SNV A635A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 114625 chr1 9074767 9074767 G C SLC2A7 Synonymous SNV A292A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 114626 chr11 18303665 18303665 C A HPS5 Nonsynonymous SNV S940I 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 114627 chr11 44927979 44927987 CTGTCTGAG - TSPAN18 L6_C8del 0.001 0 0 0 1 0 0 0 0 0 0 0 114628 chr1 92765761 92765761 G A rs72958781 RPAP2 Synonymous SNV Q28Q 0.003 0.01 0.014 0 4 4 0 4 0 0 0 0 0.979 114629 chr11 128807650 128807650 - C rs141395772 TP53AIP1 Frameshift insertion Q22Afs*77 0.009 0.013 0.017 1 11 5 0.003 5 0 0 0 0 114630 chrX 153599569 153599569 C A FLNA Synonymous SNV A15A 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 114631 chr11 128807653 128807653 T G rs200155588 TP53AIP1 Synonymous SNV R21R 0.009 0.013 0.017 1 11 5 0.003 5 0 0 0 0 0.236 114632 chr11 129817155 129817155 T C rs76174913 PRDM10 Synonymous SNV E49E 0.014 0.008 0.02 3 16 3 0.008 6 0 0 1 0 Benign 2.314 114633 chr1 94543300 94543300 C T rs139050119 ABCA4 Synonymous SNV R500R 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.659 114634 chr2 109087563 109087563 C G rs61733788 GCC2 Nonsynonymous SNV T593S 0.003 0.008 0.01 4 4 3 0.01 3 0 0 0 0 Benign 6.438 114635 chrX 18189324 18189324 C T rs372832093 BEND2 Nonsynonymous SNV S570N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.039 114636 chrX 20190921 20190921 G A rs373738591 RPS6KA3 Synonymous SNV S432S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.04 114637 chr1 95657190 95657190 C T rs779868562 TLCD4 Synonymous SNV I186I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 114638 chr11 130781428 130781428 C T rs187368225 SNX19 Synonymous SNV P2P 0.014 0.005 0 2 16 2 0.005 0 0 0 0 0 7.91 114639 chr11 20070428 20070428 A C rs952849184 NAV2 Nonsynonymous SNV S439R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 114640 chr11 133789785 133789785 C T rs148045307 IGSF9B Nonsynonymous SNV A1279T 0.007 0.008 0 2 8 3 0.005 0 0 0 0 1 Benign 22.3 114641 chr11 133790983 133790983 G A rs77730320 IGSF9B Synonymous SNV F879F 0.008 0.008 0 2 9 3 0.005 0 0 0 0 1 Benign 6.395 114642 chr11 133796875 133796875 G A rs112867001 IGSF9B Synonymous SNV S581S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 1 13.8 114643 chr1 98511733 98511733 - CCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTA MIR137HG 0 0 0.027 0 0 0 0 8 0 0 0 0 114644 chr1 210591537 210591537 T G rs200438732 HHAT Nonsynonymous SNV C105G 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 0.002 114645 chr20 10393429 10393429 C T rs771767882 MKKS Nonsynonymous SNV C245Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 114646 chr20 1286138 1286138 A T rs142776744 SNPH Nonsynonymous SNV M309L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.905 114647 chr2 113955443 113955443 C A rs45555634 PSD4 Synonymous SNV V859V 0.022 0.039 0.02 8 26 15 0.021 6 0 1 0 0 15.69 114648 chr11 17351790 17351790 A G rs201651223 NUCB2 Synonymous SNV E343E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.51 114649 chr1 214815298 214815298 A G rs144237457 CENPF Nonsynonymous SNV Y1206C 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.06 114650 chrX 39932949 39932949 G A rs17145653 BCOR Synonymous SNV T550T 0.007 0.01 0.007 1 8 4 0.003 2 1 1 1 0 Benign/Likely benign 0.005 114651 chr2 120834823 120834823 G C rs141272714 EPB41L5 Nonsynonymous SNV Q215H 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 19.93 114652 chr11 1768999 1768999 C T rs554067806 IFITM10 Synonymous SNV P145P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 114653 chrX 48822628 48822628 C G rs782197589 KCND1 Nonsynonymous SNV V518L 0.004 0.003 0 0 5 1 0 0 2 0 0 0 9.366 114654 chr1 217824488 217824488 T C rs143446051 SPATA17 Synonymous SNV L70L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 2.931 114655 chr20 16021853 16021853 C T rs777625542 MACROD2 Synonymous SNV G152G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 114656 chrX 51151273 51151273 C G rs201483750 EZHIP Nonsynonymous SNV L469V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 19.62 114657 chrX 56591767 56591767 C A rs45559331 UBQLN2 Synonymous SNV T487T 0.004 0.003 0.017 0 5 1 0 5 2 0 1 0 Conflicting interpretations of pathogenicity 14.18 114658 chr20 18118605 18118605 T C rs554112747 PET117 Synonymous SNV S2S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.502 114659 chr1 205628550 205628550 G C rs148291270 SLC45A3 Nonsynonymous SNV L492V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.3 114660 chr11 31804978 31804978 G C rs3026404 ELP4 Nonsynonymous SNV S394T 0.008 0.026 0.014 4 9 10 0.01 4 0 0 0 0 Benign 24.7 114661 chrX 66765164 66765164 - GCA AR Q80_E81insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 114662 chr1 223178349 223178349 G A DISP1 Nonsynonymous SNV A1204T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.94 114663 chr1 223283881 223283881 T C rs75283814 TLR5 Synonymous SNV K831K 0.009 0.005 0.02 2 11 2 0.005 6 0 0 0 0 Benign 6.799 114664 chr1 223396880 223396880 G A rs851150 SUSD4 Synonymous SNV G385G 0.009 0.003 0.02 2 11 1 0.005 6 0 0 0 0 9.064 114665 chr1 223989954 223989954 A C rs139346766 TP53BP2 Synonymous SNV P363P 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 3.939 114666 chr11 20676319 20676319 G A rs16906628 SLC6A5 Nonsynonymous SNV G533R 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 Benign 23.9 114667 chrX 7870079 7870079 T C PNPLA4 Nonsynonymous SNV D107G 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 114668 chrX 79698615 79698615 A G rs140859426 TENT5D Nonsynonymous SNV K193E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.076 114669 chr11 2439535 2439535 C T rs540165866 TRPM5 Synonymous SNV S256S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 114670 chrX 79932417 79932417 A G rs140852252 BRWD3 Synonymous SNV G1700G 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 6.948 114671 chr10 95076496 95076496 G A rs199932190 MYOF Synonymous SNV D1878D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.45 114672 chr11 2591948 2591948 C T rs199473662 KCNQ1 Nonsynonymous SNV R190W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 33 114673 chrX 92928102 92928122 TGCTGCCGCTGCTGCTGCTGC - rs776598582 NAP1L3 S61_S67del 0.003 0.003 0 0 3 1 0 0 1 0 0 0 114674 chr10 96162517 96162534 GGAGGAGGCTGACGAGGA - rs760244892 TBC1D12 A58_E63del 0.002 0.005 0.003 0 2 2 0 1 0 1 0 0 114675 chr20 31023040 31023040 A G rs367751731 ASXL1 Nonsynonymous SNV N781S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.062 114676 chr11 55944467 55944467 C T rs149623931 OR5J2 Nonsynonymous SNV A125V 0.014 0.013 0.01 5 17 5 0.013 3 0 0 0 0 25.7 114677 chr2 160709784 160709784 C T LY75, LY75-CD302 Nonsynonymous SNV D915N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 114678 chr2 160873158 160873158 A G PLA2R1 Synonymous SNV H506H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 114679 chr11 31447864 31447864 A G rs144649932 DNAJC24 Nonsynonymous SNV D94G 0.009 0 0.014 3 10 0 0.008 4 0 0 0 0 21.5 114680 chr2 167085297 167085297 A G rs199673396 SCN9A Synonymous SNV C1370C 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.116 114681 chr1 233122113 233122113 C T rs189263803 PCNX2 Nonsynonymous SNV A1989T 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 5.501 114682 chr1 215368393 215368393 T C KCNK2 Synonymous SNV I303I 0 0 0 3 0 0 0.008 0 0 0 0 0 8.197 114683 chr10 105160184 105160184 A G rs150893869 PDCD11 Nonsynonymous SNV K45E 0.012 0.003 0.031 2 14 1 0.005 9 1 0 0 0 28.2 114684 chr2 168041087 168041087 C T rs77546992 XIRP2 Nonsynonymous SNV L200F 0.013 0.018 0.01 6 15 7 0.015 3 1 0 0 0 Benign 5.719 114685 chr10 27066106 27066106 T C rs200435060 ABI1 Nonsynonymous SNV N117S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 114686 chr1 220324983 220324983 G T rs149842844 RAB3GAP2 Nonsynonymous SNV L1331I 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 21.3 114687 chr10 27692256 27692256 A G rs148140519 PTCHD3 Synonymous SNV V414V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 4.233 114688 chr1 236749699 236749699 - AG HEATR1 Frameshift insertion S590Tfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 114689 chr1 236749701 236749701 C G HEATR1 Synonymous SNV L589L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 114690 chr1 237675029 237675029 G A rs186181155 RYR2 Synonymous SNV E920E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.1 114691 chr11 4411471 4411471 G A rs200488796 TRIM21 Nonsynonymous SNV R57C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.4 114692 chr11 4471006 4471006 T C rs757937972 OR52K2 Nonsynonymous SNV I146T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 114693 chr20 39609445 39609448 TCTC - rs558657177 LOC100128988 0 0.003 0.003 0 0 1 0 1 0 0 0 0 114694 chr20 40827886 40827886 C T rs201911869 PTPRT Nonsynonymous SNV G829R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.4 114695 chr1 227174370 227174370 C T rs141725964 COQ8A Nonsynonymous SNV R626C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign/Likely benign 19.47 114696 chr20 43851201 43851201 T C rs201131146 SEMG2 Nonsynonymous SNV S310P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.633 114697 chr1 228289125 228289130 TCTTTT - rs745406016 C1orf35 K193_K194del 0.002 0 0 3 2 0 0.008 0 0 0 0 0 114698 chr1 228290223 228290223 G C rs377443672 C1orf35 Synonymous SNV P110P 0.003 0 0 6 3 0 0.015 0 0 0 0 0 13.56 114699 chr10 121140390 121140390 G A GRK5 Nonsynonymous SNV C71Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 29.1 114700 chr1 228548288 228548288 T A rs192205562 OBSCN Synonymous SNV A6565A 0.003 0 0 6 3 0 0.015 0 0 0 0 0 Likely benign 9.58 114701 chr11 55111531 55111531 C T rs78253574 OR4A16 Synonymous SNV Y285Y 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 0.26 114702 chr11 55111532 55111532 T A rs78553002 OR4A16 Nonsynonymous SNV S286T 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 0.001 114703 chr11 55111534 55111534 G A rs77217348 OR4A16 Synonymous SNV S286S 0.009 0.01 0 3 11 4 0.008 0 0 0 0 0 3.982 114704 chr11 55111541 55111541 C A rs75126708 OR4A16 Nonsynonymous SNV Q289K 0.011 0.008 0 4 13 3 0.01 0 0 0 0 0 17.29 114705 chr11 55111543 55111543 A T rs79877460 OR4A16 Nonsynonymous SNV Q289H 0.01 0.01 0 4 12 4 0.01 0 0 0 0 0 9.83 114706 chr1 228596199 228596199 C T rs151306399 TRIM17 Synonymous SNV R379R 0.003 0 0 5 3 0 0.013 0 0 0 0 0 9.498 114707 chr11 4944896 4944896 C T rs143904984 OR51G1 Nonsynonymous SNV R225H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 1.088 114708 chr10 47087401 47087401 A C rs141580123 NPY4R, NPY4R2 Synonymous SNV P206P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.001 114709 chr10 49457159 49457159 A G FRMPD2 Nonsynonymous SNV F70L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 114710 chr11 57798503 57798503 C T rs75126969 OR6Q1 Nonsynonymous SNV L27F 0.012 0.016 0.003 4 14 6 0.01 1 0 0 0 0 0.001 114711 chr20 51870106 51870106 G A rs201799053 TSHZ2 Nonsynonymous SNV G34S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.542 114712 chr20 52790000 52790000 T C CYP24A1 Nonsynonymous SNV E40G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 114713 chr11 57957971 57957971 A C rs571316549 OR9Q2 Nonsynonymous SNV E3D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 114714 chr2 182521707 182521707 C T rs368855330 CERKL Synonymous SNV R9R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.77 114715 chr20 56285284 56285284 C T rs116901853 NKILA 0 0 0.007 0 0 0 0 2 0 0 0 0 11.02 114716 chr11 58919502 58919502 C T FAM111A Nonsynonymous SNV H121Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 114717 chr11 59189983 59189983 G A rs141672631 OR5A2 Synonymous SNV G148G 0.004 0.008 0 0 5 3 0 0 0 0 0 0 9.082 114718 chr20 57485878 57485878 G T rs757938962 GNAS Synonymous SNV L378L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.09 114719 chr11 59603444 59603444 G A rs150926439 CBLIF Nonsynonymous SNV P304S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.95 114720 chr1 245849741 245849741 C T rs146698496 KIF26B Synonymous SNV V1152V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.38 114721 chr11 60687315 60687315 A C rs202067597 TMEM109 Synonymous SNV P50P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.042 114722 chr11 60689258 60689258 C G TMEM109 Nonsynonymous SNV A118G 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 22.1 114723 chr10 61564188 61564188 A G rs746073503 CCDC6 Synonymous SNV P365P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.508 114724 chr2 196664136 196664136 G A rs775282712 DNAH7 Nonsynonymous SNV P3413S 0.003 0 0 0 4 0 0 0 0 0 0 0 26.7 114725 chr20 61143279 61143279 T C rs7271454 MIR1-1HG-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.825 114726 chr20 61143364 61143364 T C rs12625668 MIR1-1HG-AS1 0 0 0.105 0 0 0 0 31 0 0 6 0 0.546 114727 chr11 614269 614269 T A rs139709725 IRF7 Nonsynonymous SNV H208L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 1.601 114728 chr11 61553538 61553538 C G MYRF Nonsynonymous SNV Q1087E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.1 114729 chr11 117267944 117267944 G T rs143802594 CEP164 Nonsynonymous SNV R1142L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 114730 chr2 20818883 20818883 G C rs35579164 HS1BP3 Nonsynonymous SNV P348R 0.014 0.01 0.01 7 16 4 0.018 3 1 0 0 0 2.861 114731 chr11 121032898 121032898 G A rs200028435 TECTA Nonsynonymous SNV M1697I 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 21.3 114732 chr20 9520141 9520141 C T rs560752200 PAK5 Nonsynonymous SNV V710I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 114733 chr2 10583918 10583918 C T rs113241465 ODC1 Nonsynonymous SNV R36H 0 0 0 3 0 0 0.008 0 0 0 0 0 24.3 114734 chr10 45499122 45499122 A G rs146334981 ZNF22 Synonymous SNV R102R 0.005 0 0 0 6 0 0 0 0 0 0 0 8.74 114735 chr11 64900706 64900706 G A SYVN1 Synonymous SNV A50A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.23 114736 chr21 32502534 32502534 C T rs769275298 TIAM1 Nonsynonymous SNV A381T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 114737 chr11 65391070 65391070 C T PCNX3 Synonymous SNV F822F 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 15.57 114738 chr2 219254667 219254667 C T rs560129385 SLC11A1 Synonymous SNV I290I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.05 114739 chr2 32772949 32772949 A G BIRC6 Synonymous SNV S4281S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.579 114740 chr2 219532975 219532975 T C rs115769773 RNF25 Nonsynonymous SNV Q69R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.177 114741 chr11 125221224 125221224 C T PKNOX2 Nonsynonymous SNV A8V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 114742 chr10 94669377 94669377 G A rs769898364 EXOC6 Nonsynonymous SNV A218T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 114743 chr10 50029121 50029121 C T rs79406124 WDFY4 Synonymous SNV H1908H 0.007 0 0 2 8 0 0.005 0 0 0 0 0 14.37 114744 chr11 65793162 65793162 C T rs74794071 CATSPER1 Nonsynonymous SNV R230H 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 Uncertain significance 0.126 114745 chr10 95791244 95791244 G A rs758420946 PLCE1 Synonymous SNV K147K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 9.561 114746 chr10 96012108 96012108 C T rs61732522 PLCE1 Synonymous SNV H736H 0.012 0.005 0.01 5 14 2 0.013 3 0 0 0 0 Benign/Likely benign 12.75 114747 chr11 66276576 66276576 G A rs12421620 DPP3 Nonsynonymous SNV E660K 0.013 0.013 0.003 4 15 5 0.01 1 0 0 0 0 23.9 114748 chr21 41416108 41416108 T C rs201433234 DSCAM Synonymous SNV S1760S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 2.224 114749 chr21 43133714 43133714 G T rs2838095 LINC00479 0 0 0.037 0 0 0 0 11 0 0 1 0 1.011 114750 chr10 50944490 50944490 G A rs151304962 OGDHL Synonymous SNV F680F 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 11.66 114751 chr2 48873814 48873814 C T rs200588064 GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV P170L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 11.42 114752 chr11 562547 562547 C T RASSF7 Nonsynonymous SNV A198V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 114753 chr21 43867290 43867290 A G rs148149121 UBASH3A Nonsynonymous SNV I620V 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 Benign 0.529 114754 chr2 226378312 226378312 C A rs781354393 NYAP2 Synonymous SNV T149T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.2 114755 chr2 28742590 28742590 C T rs144216037 PLB1 Nonsynonymous SNV S68F 0 0 0.003 3 0 0 0.008 1 0 0 0 0 27 114756 chr11 100807050 100807050 T C rs61734880 ARHGAP42 Synonymous SNV Y273Y 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 0.05 114757 chr2 62053677 62053677 A G rs138464813 FAM161A Synonymous SNV I632I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.99 114758 chr21 45877286 45877286 C T rs764999658 LRRC3 Synonymous SNV I253I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.734 114759 chr11 6913396 6913396 G A rs140944764 OR2D2 Synonymous SNV C112C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.151 114760 chr11 57102097 57102097 C T rs145267582 SSRP1 Nonsynonymous SNV R27H 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Likely benign 24 114761 chr2 231861210 231861210 G A rs149976648 SPATA3 Nonsynonymous SNV D88N 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 2.63 114762 chr10 6557045 6557045 T G rs199974877 PRKCQ Nonsynonymous SNV Q18P 0.003 0 0 0 3 0 0 0 0 0 0 0 18.38 114763 chr11 57156051 57156051 G A rs751028819 PRG2 Nonsynonymous SNV S155L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.202 114764 chr2 231865154 231865154 T C rs201768791 SPATA3 Synonymous SNV R125R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.359 114765 chr11 57268747 57268747 G C rs777186092 SLC43A1 Nonsynonymous SNV D70E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 114766 chr21 47542434 47542434 C T rs369344717 COL6A2 Nonsynonymous SNV R533C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 114767 chr11 71711434 71711434 C T rs199747659 IL18BP Synonymous SNV H22H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.974 114768 chr21 47571464 47571464 G A rs771977984 FTCD-AS1 Nonsynonymous SNV G6R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.699 114769 chr11 57886442 57886442 G A rs149512166 OR9I1 Nonsynonymous SNV R159C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 114770 chr2 39492380 39492380 T C rs777310769 MAP4K3 Synonymous SNV E679E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.464 114771 chr11 73073653 73073653 G A rs771106799 ARHGEF17 Nonsynonymous SNV G1624S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.433 114772 chr11 73429885 73429885 G T rs61758773 RAB6A Synonymous SNV L45L 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Benign 7.319 114773 chr11 1974077 1974077 G A rs778533983 MRPL23 Nonsynonymous SNV V97M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 114774 chr2 235950461 235950461 G A rs146281552 SH3BP4 Nonsynonymous SNV E350K 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 24.7 114775 chr11 58035062 58035062 G T rs151260828 OR10W1 Nonsynonymous SNV T90N 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 23.1 114776 chr11 58170780 58170780 T A rs17152659 OR5B3 Nonsynonymous SNV I35F 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 0.548 114777 chr11 2016907 2016907 C T rs368244047 H19 0.002 0 0 0 2 0 0 0 0 0 0 0 9.898 114778 chr2 44174907 44174907 T C rs148575027 LRPPRC Nonsynonymous SNV H643R 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 114779 chr22 17979673 17979673 G A rs182513499 CECR2 Nonsynonymous SNV G23R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.1 114780 chr2 238287313 238287313 A G rs115387170 COL6A3 Synonymous SNV S414S 0.008 0.005 0.014 2 9 2 0.005 4 0 0 0 0 Benign/Likely benign 2.02 114781 chr11 59210795 59210795 A G rs17153732 OR5A1 Nonsynonymous SNV I52V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 6.906 114782 chr22 18912581 18912581 C T rs148375080 LOC102724788, PRODH Nonsynonymous SNV R109H 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 114783 chr11 59224464 59224464 G C rs17153766 OR4D6 Nonsynonymous SNV E11Q 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 19.41 114784 chr11 5862505 5862507 AAG - rs770592736 OR52E6 L210del 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 114785 chr2 84989894 84989894 A G rs201195733 DNAH6 Nonsynonymous SNV T3510A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.71 114786 chr11 59245593 59245593 G T rs75898556 OR4D10 Stop gain E231X 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 35 114787 chr11 59245753 59245753 C T rs746583891 OR4D10 Nonsynonymous SNV P284L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.9 114788 chr22 19808198 19808198 C T rs776216882 GNB1L Synonymous SNV A59A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 114789 chr22 19808822 19808822 G A rs183732518 GNB1L Synonymous SNV T19T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.705 114790 chr11 59480952 59480952 G A rs499037 OR10V1 Stop gain Q123X 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 35 114791 chr2 239072556 239072556 C A rs546333844 ERFE Synonymous SNV R201R 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 22.3 114792 chr22 19960522 19960522 G A rs201679264 ARVCF Synonymous SNV L826L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.135 114793 chr2 239237876 239237876 G A rs375427551 TRAF3IP1 Nonsynonymous SNV D270N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.16 114794 chr11 2434086 2434086 G A rs149418735 TRPM5 Synonymous SNV Y751Y 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 6.834 114795 chr22 20113959 20113959 C T rs765556887 SNORA77B 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 114796 chr11 76869378 76869378 G A rs41298135 MYO7A Nonsynonymous SNV R302H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 31 114797 chr22 20792008 20792008 C A SCARF2 Nonsynonymous SNV A12S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 114798 chr22 21304124 21304124 A C rs201830706 CRKL Nonsynonymous SNV E301D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 114799 chr11 77412542 77412542 G A rs150382224 RSF1 Nonsynonymous SNV R578C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 114800 chr22 22398127 22398127 C T rs986645 PRAMENP 0 0 0.014 0 0 0 0 4 0 0 2 0 4.624 114801 chr2 241870484 241870484 G T rs554628421 CROCC2 Nonsynonymous SNV A296S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.89 114802 chr2 241889058 241889058 G A rs553516744 CROCC2 Nonsynonymous SNV R864Q 0.003 0 0 0 3 0 0 0 0 0 0 0 21.8 114803 chr2 65248253 65248253 A C SLC1A4 Nonsynonymous SNV E226D 0 0 0 2 0 0 0.005 0 0 0 0 0 12.46 114804 chr11 292667 292667 A G rs115225588 PGGHG Nonsynonymous SNV H383R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.763 114805 chr2 98412848 98412848 T C rs373085706 TMEM131 Synonymous SNV P1011P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.822 114806 chr11 83691678 83691678 G C rs763303918 DLG2 Synonymous SNV G153G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.19 114807 chr11 84245723 84245723 G A rs770712831 DLG2 Synonymous SNV L32L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.045 114808 chr11 608805 608805 A C PHRF1 Synonymous SNV R1117R 0.002 0.01 0 0 2 4 0 0 0 0 0 0 0.006 114809 chr22 24916418 24916418 C T rs970320196 UPB1 Synonymous SNV A285A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 114810 chr11 61058329 61058329 G A rs142636981 VWCE Synonymous SNV A122A 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 11.05 114811 chr11 86055749 86055749 T C rs764895793 HIKESHI Synonymous SNV N155N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.199 114812 chr11 8646618 8646618 G C rs777820907 TRIM66 Nonsynonymous SNV P678R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.24 114813 chr11 1093514 1093514 C G rs767668614 MUC2 Nonsynonymous SNV P1778R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 114814 chr22 26860240 26860240 T G rs748136926 HPS4 Nonsynonymous SNV Q447H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 114815 chr11 1103265 1103265 C T MUC2 Nonsynonymous SNV S2672L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 114816 chr11 65547199 65547199 T G rs369823451 AP5B1 Synonymous SNV T255T 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 0.167 114817 chr11 3697513 3697513 C T rs759715344 NUP98 Nonsynonymous SNV R1713Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 114818 chr22 29726473 29726473 T C rs1003185341 AP1B1 Nonsynonymous SNV K860R 0 0 0.007 0 0 0 0 2 0 0 0 0 1.524 114819 chr3 9780869 9780869 T C rs749889641 BRPF1 Synonymous SNV N262N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.256 114820 chr11 429648 429648 C T rs116804097 ANO9 Synonymous SNV T135T 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 16.83 114821 chr11 63488431 63488431 T C rs750248608 RTN3 Synonymous SNV D707D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.497 114822 chr2 84851664 84851664 G A DNAH6 Nonsynonymous SNV A1425T 0 0 0 2 0 0 0.005 0 0 0 0 0 20.6 114823 chr22 30951226 30951226 C T rs112976399 GAL3ST1 Nonsynonymous SNV R329H 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 22.7 114824 chr22 30952023 30952023 G A rs116808844 GAL3ST1 Synonymous SNV I63I 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 3.763 114825 chr22 31283719 31283719 C G rs5753373 LOC107985544 0 0 0.071 0 0 0 0 21 0 0 5 0 0.186 114826 chr22 31284103 31284103 G C LOC107985544 0 0 0.003 0 0 0 0 1 0 0 0 0 2.087 114827 chr22 31289859 31289859 C A OSBP2 Stop gain S293X 0 0 0.007 0 0 0 0 2 0 0 0 0 44 114828 chr22 31289867 31289867 G A OSBP2 Nonsynonymous SNV E296K 0 0 0.007 0 0 0 0 2 0 0 0 0 26.3 114829 chr11 93911751 93911751 G C PANX1 Nonsynonymous SNV G180R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.645 114830 chr11 94209490 94209490 G A MRE11 Synonymous SNV N208N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 9.803 114831 chr3 11374551 11374551 A G rs142220561 ATG7 Synonymous SNV E252E 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 7.08 114832 chr11 6411961 6411961 C T SMPD1 Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.286 114833 chr11 67223175 67223175 G A rs143040005 CABP4 Nonsynonymous SNV R94H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 23.4 114834 chr11 46745004 46745004 G A rs144857547 F2 Synonymous SNV T165T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.48 114835 chr22 32667243 32667243 T C rs12160006 SLC5A4-AS1 0 0 0.058 0 0 0 0 17 0 0 0 0 11.26 114836 chr2 120439186 120439186 C T rs139821866 TMEM177 Nonsynonymous SNV L253F 0.006 0.01 0.014 1 7 4 0.003 4 0 0 0 0 18.45 114837 chr2 96992685 96992685 G C rs751379474 ITPRIPL1 Nonsynonymous SNV G114R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.241 114838 chr10 99644037 99644037 C T rs142410532 CRTAC1 Nonsynonymous SNV G520R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.65 114839 chr11 4703533 4703533 T C rs762251867 OR51E2 Nonsynonymous SNV N137D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 114840 chr11 64822182 64822182 G A rs147209948 NAALADL1 Nonsynonymous SNV A211V 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 0.006 114841 chr2 122227440 122227440 A G rs201375216 CLASP1 Nonsynonymous SNV V270A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.48 114842 chr11 6413037 6413037 G A rs200763423 SMPD1 Nonsynonymous SNV E248K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 29.9 114843 chr11 64138874 64138874 A T RPS6KA4 Synonymous SNV A741A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.004 114844 chr3 15079643 15079643 C T rs148205226 NR2C2 Synonymous SNV P503P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.415 114845 chr11 68207276 68207276 C T rs11574420 LRP5 Synonymous SNV S879S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 19.74 114846 chr2 100915736 100915736 T G rs114250681 LONRF2 Nonsynonymous SNV Q438P 0 0.003 0 5 0 1 0.013 0 0 0 0 0 0.091 114847 chr3 28454627 28454627 A G rs148504648 ZCWPW2 Nonsynonymous SNV N23S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 13.4 114848 chr3 30936099 30936099 C T rs779929434 GADL1 Nonsynonymous SNV S3N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.645 114849 chr11 7111125 7111125 C G rs201798501 RBMXL2 Nonsynonymous SNV S258R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 114850 chr12 107279715 107279715 T C rs367725617 RIC8B Synonymous SNV P479P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.28 114851 chr3 33194431 33194431 C A rs186544854 SUSD5 Nonsynonymous SNV D565Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 114852 chr2 105654588 105654588 C T rs13399067 MRPS9 Nonsynonymous SNV S13L 0.016 0.021 0.014 5 19 8 0.013 4 0 0 0 0 15.8 114853 chr22 40043877 40043877 C A rs57732048 CACNA1I Nonsynonymous SNV H505N 0.006 0.016 0.02 4 7 6 0.01 6 0 0 0 0 0.003 114854 chr22 40803043 40803043 G A rs768300207 SGSM3 Nonsynonymous SNV R340Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 114855 chr11 6591508 6591508 C T rs200680959 DNHD1 Synonymous SNV D4329D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.34 114856 chr22 41231601 41231601 A C rs748132305 ST13 Nonsynonymous SNV S171A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 114857 chr3 36875116 36875116 G A rs186229206 TRANK1 Synonymous SNV D1942D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.543 114858 chr11 72397201 72397201 G A rs201910427 ARAP1 Synonymous SNV R1090R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.54 114859 chr3 38164568 38164568 G A rs145732427 ACAA1 Synonymous SNV A322A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 114860 chr11 73118594 73118594 G A rs374037531 FAM168A Synonymous SNV Y124Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.81 114861 chr3 38620869 38620869 G A rs199473196 SCN5A Nonsynonymous SNV R1115W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.9 114862 chr11 73717219 73717219 G A rs74907838 UCP3 Nonsynonymous SNV A111V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.933 114863 chr11 66453879 66453879 G A rs749226138 SPTBN2 Nonsynonymous SNV A2310V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 114864 chr2 158272651 158272651 A G CYTIP Synonymous SNV D206D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.534 114865 chr2 113993049 113993049 A C rs199939219 PAX8 Nonsynonymous SNV S337A 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 12.79 114866 chr11 75852211 75852211 C T rs150174890 UVRAG Synonymous SNV H618H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.763 114867 chr11 6650684 6650684 T A rs117031105 DCHS1 Synonymous SNV T1720T 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 11.86 114868 chr22 46804941 46804941 G A rs140815664 CELSR1 Synonymous SNV S1726S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.85 114869 chr12 11214025 11214025 A T rs372278369 TAS2R46 Nonsynonymous SNV F290Y 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 9.367 114870 chr22 47069586 47069586 G A GRAMD4 Nonsynonymous SNV R446Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 114871 chr11 124972141 124972141 G A rs201160103 TMEM218 Synonymous SNV R34R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 114872 chr22 47188473 47188473 C T rs751292740 TBC1D22A Nonsynonymous SNV T40I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 114873 chr3 42916064 42916064 C T rs147356860 CYP8B1 Synonymous SNV R415R 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 11.48 114874 chr11 125267874 125267874 C T PKNOX2 Synonymous SNV T168T 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 12.98 114875 chr3 42955840 42955842 AAG - rs537964739 ZNF662 E119del 0.011 0.01 0.01 2 13 4 0.005 3 1 0 0 0 114876 chr11 125547879 125547879 T C ACRV1 Synonymous SNV E122E 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 0.002 114877 chr3 44409138 44409138 T C rs7431164 TCAIM Synonymous SNV F170F 0.032 0.023 0.017 7 38 9 0.018 5 0 0 0 1 5.944 114878 chr3 44762978 44762978 A T rs142471042 ZNF502 Synonymous SNV R223R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.146 114879 chr3 44776713 44776713 T C rs138255914 ZNF501 Nonsynonymous SNV L267P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 114880 chr12 113830763 113830763 T C rs146897652 SDS Nonsynonymous SNV N324D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.217 114881 chr3 44854614 44854614 T G rs76971569 KIF15 Synonymous SNV L775L 0.028 0.023 0.017 5 33 9 0.013 5 0 0 0 0 Benign 9.058 114882 chr11 126136696 126136696 C T rs765988977 SRPRA Synonymous SNV E188E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 114883 chr11 126215285 126215285 G A rs140377449 DCPS Nonsynonymous SNV R271Q 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 114884 chr11 82644870 82644870 T C DDIAS Synonymous SNV P830P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.062 114885 chr12 120152036 120152036 G A rs766786434 CIT Synonymous SNV T1382T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.09 114886 chr2 176957932 176957932 A C rs200514497 HOXD13 Nonsynonymous SNV K105T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 26.9 114887 chr11 85396863 85396863 T A rs553340912 CCDC89 Nonsynonymous SNV K104M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.6 114888 chr2 100055328 100055328 A G REV1 Synonymous SNV T316T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.075 114889 chr11 1085753 1085753 G A rs200614806 MUC2 Nonsynonymous SNV G892S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 114890 chr3 46944109 46944109 G A rs142921504 PTH1R Synonymous SNV T435T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign/Likely benign 13.02 114891 chr2 101638818 101638818 C T rs572578268 TBC1D8 Nonsynonymous SNV A881T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 25.3 114892 chr2 101706802 101706802 G A TBC1D8 Nonsynonymous SNV A51V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 114893 chr11 74876889 74876889 C T rs148248368 SLCO2B1 Nonsynonymous SNV P93S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 25.8 114894 chr3 48921550 48921550 G A rs138433512 SLC25A20 Nonsynonymous SNV T69M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.159 114895 chr3 49166220 49166220 G A rs33942096 LAMB2 Synonymous SNV P588P 0.006 0 0.014 3 7 0 0.008 4 0 0 0 0 Benign/Likely benign 7.209 114896 chr12 123430597 123430597 T G rs75474899 ABCB9 Nonsynonymous SNV Y409S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 24.3 114897 chr12 123661295 123661295 T C rs117480466 MPHOSPH9 Nonsynonymous SNV H799R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23 114898 chr11 1857777 1857777 T C rs773622622 SYT8 Synonymous SNV H228H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 114899 chr11 77069989 77069989 - CAT rs149665907 PAK1 D183_A184insD 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 114900 chr3 50378153 50378153 A T rs61754211 RASSF1 Synonymous SNV R28R 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 7.627 114901 chr2 113089980 113089980 A T rs760365208 ZC3H6 Nonsynonymous SNV D1162V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 114902 chr11 77911709 77911709 - C rs761345427 USP35 Frameshift insertion M354Hfs*39 0.001 0 0 0 1 0 0 0 0 0 0 0 114903 chr12 124821754 124821754 A - rs781168771 MIR6880 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 114904 chr11 117376212 117376212 G A rs116946216 DSCAML1 Synonymous SNV N673N 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 10.57 114905 chr11 94823367 94823367 G A ENDOD1 Synonymous SNV E92E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.28 114906 chr11 19251415 19251415 G C rs974845448 E2F8 Synonymous SNV P493P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.463 114907 chr2 113785655 113785655 G T rs146284777 IL36B Nonsynonymous SNV A100E 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.72 114908 chr11 78412881 78412881 C T TENM4 Nonsynonymous SNV G1593S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 114909 chr2 113996772 113996772 G A rs143833481 PAX8-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 2.947 114910 chr2 169952053 169952053 G C rs144812455 DHRS9 0 0 0 5 0 0 0.013 0 0 0 0 0 24.2 114911 chr2 11758436 11758436 C T rs201632670 GREB1 Synonymous SNV S1145S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 10.89 114912 chr11 120097647 120097647 C T rs3740736 OAF Synonymous SNV A163A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.28 114913 chr2 186660561 186660561 A G rs182740901 FSIP2 Nonsynonymous SNV K2900E 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 21 114914 chr12 100441770 100441770 G A rs771556249 UHRF1BP1L Nonsynonymous SNV T1308I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 114915 chr12 12630562 12630562 A C rs143980194 DUSP16 Synonymous SNV S401S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.018 114916 chr11 82550387 82550387 A G rs4843 PRCP Synonymous SNV Y229Y 0.014 0.008 0.02 5 17 3 0.013 6 0 0 0 0 1.319 114917 chr12 101510519 101510519 G A rs778005685 ANO4 Nonsynonymous SNV R838Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 114918 chr12 129391470 129391470 T C GLT1D1 Synonymous SNV L132L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.901 114919 chr11 122659945 122659945 C T rs766919387 UBASH3B Synonymous SNV T268T 0.004 0 0 0 5 0 0 0 0 0 0 0 17.87 114920 chr3 53700400 53700400 G A rs147336902 CACNA1D Synonymous SNV A318A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 15.93 114921 chr12 102140958 102140958 T C rs749653387 GNPTAB Nonsynonymous SNV N1252S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 114922 chr12 102512169 102512169 T C rs145223486 NUP37 Nonsynonymous SNV Y43C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 114923 chr11 8161564 8161564 G A rs144806410 RIC3 Nonsynonymous SNV P101S 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 28.1 114924 chr11 88911250 88911250 G A rs377546778 TYR Synonymous SNV R43R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.143 114925 chr2 193059082 193059082 A G rs781431736 TMEFF2 Nonsynonymous SNV S57P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 114926 chr11 82892081 82892081 A G PCF11 Nonsynonymous SNV T1470A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 25.4 114927 chr12 105591593 105591593 A G rs140225839 APPL2 Synonymous SNV D340D 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 3.159 114928 chr3 64009018 64009018 G A rs372395224 PSMD6 Synonymous SNV L26L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.953 114929 chr3 64507895 64507895 T C rs17070909 ADAMTS9 Synonymous SNV G1892G 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 0.784 114930 chr2 179542469 179542489 TTCCTCTTCTTCAGGTAGAAC - rs587780487 TTN V10140_E10146del 0 0 0.003 2 0 0 0.005 1 0 0 0 0 114931 chr3 64532476 64532476 G C rs6787633 ADAMTS9 Nonsynonymous SNV D1646E 0.007 0.005 0.024 1 8 2 0.003 7 1 0 1 0 7.41 114932 chr11 32635096 32635096 C A rs188950262 CCDC73 Nonsynonymous SNV S923I 0.004 0 0.003 0 5 0 0 1 0 0 0 0 18.33 114933 chr2 203030077 203030077 A G rs148576521 KIAA2012 Nonsynonymous SNV Q706R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 114934 chr11 34218972 34218972 C T rs150416485 ABTB2 Nonsynonymous SNV D382N 0.004 0.008 0 0 5 3 0 0 0 0 0 0 27 114935 chr3 98188485 98188485 A G rs190259915 OR5K1 Nonsynonymous SNV E22G 0.009 0.016 0.007 6 11 6 0.015 2 0 1 0 0 15.37 114936 chr11 36596588 36596588 G A RAG1 Synonymous SNV L578L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.3 114937 chr11 372671 372671 C T rs80301163 B4GALNT4 Nonsynonymous SNV R89W 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 16.48 114938 chr11 400382 400382 C T rs150286915 PKP3 Synonymous SNV C499C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 11.95 114939 chr11 1258359 1258359 C T rs202035921 MUC5B Nonsynonymous SNV L1088F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.274 114940 chr11 406924 406924 G C rs199670238 SIGIRR Synonymous SNV R266R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 14.12 114941 chr11 407438 407438 G C rs199995236 SIGIRR Synonymous SNV L204L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.307 114942 chr12 10124256 10124256 A G rs141326355 CLEC12A Nonsynonymous SNV I21V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.052 114943 chr3 108174612 108174612 G C rs144221103 MYH15 Nonsynonymous SNV H765D 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Likely benign 24.2 114944 chr11 598386 598386 G A rs201679778 PHRF1 Nonsynonymous SNV R303H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.665 114945 chr12 10150920 10150920 C T rs150507224 CLEC1B Nonsynonymous SNV V42M 0.003 0.005 0.01 6 3 2 0.015 3 0 0 0 0 4.949 114946 chr12 10466072 10466072 G T KLRD1 Nonsynonymous SNV A106S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 14 114947 chr12 112572831 112572831 T C rs781231453 TRAFD1 Synonymous SNV C66C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.727 114948 chr11 6024031 6024031 G A rs143488149 OR56A4 Synonymous SNV Y64Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.69 114949 chr3 111812214 111812214 A G rs114399573 C3orf52 Nonsynonymous SNV K49R 0.006 0.003 0.007 3 7 1 0.008 2 0 0 1 0 10.7 114950 chr2 162360492 162360492 A T rs13035499 AHCTF1P1 0 0 0.068 0 0 0 0 20 0 0 1 0 1.869 114951 chr12 106460703 106460703 C T NUAK1 Synonymous SNV R621R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.81 114952 chr12 104378698 104378698 - AGGATGCAAAGAAGATGGCTGTTAAGGAA TDG Frameshift insertion E189Rfs*42 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 114953 chr12 104379508 104379508 - GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA rs749286024 TDG 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 114954 chr12 113424949 113424949 G A rs768312284 OAS2 Nonsynonymous SNV R95H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.983 114955 chr3 112068685 112068685 T A rs141526201 CD200 Nonsynonymous SNV V274D 0.005 0.005 0.007 1 6 2 0.003 2 0 0 1 0 8.208 114956 chr2 217541495 217541495 G A rs138757825 IGFBP5 Synonymous SNV F266F 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 15.09 114957 chr2 167992513 167992513 G T rs1017783417 XIRP2 Nonsynonymous SNV G168V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.412 114958 chr2 219231703 219231703 G A rs374106256 CATIP-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 114959 chr12 117693772 117693772 C T rs370049636 NOS1 Nonsynonymous SNV G868S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 114960 chr12 109675056 109675056 C T rs138071807 ACACB Synonymous SNV T1511T 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 15.68 114961 chr12 120241183 120241183 G - CIT F375Sfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 114962 chr12 109948213 109948213 C T rs61760194 UBE3B Synonymous SNV Y602Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 11.94 114963 chr11 17594818 17594818 C T rs16934404 OTOG Synonymous SNV R770R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 15.48 114964 chr11 1778619 1778619 G C rs146073498 CTSD Synonymous SNV P213P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.18 114965 chr12 121441989 121441989 T C C12orf43 Synonymous SNV P220P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.452 114966 chr12 121600294 121600294 C T rs1169737 P2RX7 Synonymous SNV C168C 0.009 0 0.003 0 11 0 0 1 0 0 0 0 14.3 114967 chr11 62300930 62300930 C T rs149802489 AHNAK Nonsynonymous SNV R320H 0.005 0 0 0 6 0 0 0 0 0 0 0 17.21 114968 chr12 113312932 113312932 A G RPH3A Synonymous SNV P213P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.91 114969 chr2 178346885 178346885 G A rs201282509 AGPS Nonsynonymous SNV V402I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 114970 chr2 17927121 17927121 G A rs143324489 SMC6 Synonymous SNV D31D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.153 114971 chr12 113416431 113416431 C T rs45562438 OAS2 Synonymous SNV S6S 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 11.93 114972 chr3 121515964 121515964 C A IQCB1 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 114973 chr12 113725989 113725989 C T TPCN1 Synonymous SNV R484R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 114974 chr12 123480052 123480052 G A rs146884535 PITPNM2 Synonymous SNV V646V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13 114975 chr2 179458580 179458580 G C rs367624056 TTN Nonsynonymous SNV P10418A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 18.6 114976 chr12 119592058 119592058 C G rs764566307 SRRM4 Nonsynonymous SNV P468A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.9 114977 chr12 124330189 124330189 C T rs7969440 DNAH10 Synonymous SNV A1683A 0.011 0.003 0 6 13 1 0.015 0 0 0 0 0 14.71 114978 chr12 124330542 124330542 C A rs7969937 DNAH10 Nonsynonymous SNV D1767E 0.011 0.003 0 6 13 1 0.015 0 0 0 0 0 2.759 114979 chr12 124354954 124354954 C T rs7977449 DNAH10 Nonsynonymous SNV R2403W 0.007 0 0 4 8 0 0.01 0 0 0 0 0 24.9 114980 chr12 49312647 49312647 T C rs775065312 CCDC65 Synonymous SNV S186S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 7.052 114981 chr2 225751189 225751189 G A rs76040210 DOCK10 Nonsynonymous SNV A153V 0.011 0.003 0 7 13 1 0.018 0 0 0 0 0 15.41 114982 chr12 124360037 124360037 C T rs61732737 DNAH10 Nonsynonymous SNV S2615L 0.007 0 0 4 8 0 0.01 0 0 0 0 0 22.8 114983 chr12 124371835 124371835 G A rs142087355 DNAH10 Synonymous SNV E2872E 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 11.59 114984 chr11 64136019 64136019 G A rs199674030 RPS6KA4 Nonsynonymous SNV R421H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 114985 chr12 124497327 124497327 G A rs139061700 ZNF664 Synonymous SNV S212S 0.006 0 0 3 7 0 0.008 0 0 0 0 0 8.688 114986 chr12 49691403 49691403 C A rs112146976 LOC101927267 0.003 0 0.044 1 4 0 0.003 13 1 0 0 0 not provided 6.929 114987 chr12 50044479 50044479 C T rs200589328 FMNL3 Synonymous SNV E609E 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 14.03 114988 chr2 180610553 180610553 G A rs538794282 ZNF385B Nonsynonymous SNV S108L 0.001 0 0.02 4 1 0 0.01 6 0 0 0 0 11.35 114989 chr2 228175561 228175561 C A rs756231749 COL4A3 Synonymous SNV R1609R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 114990 chr11 64675134 64675134 A G rs373287240 ATG2A Nonsynonymous SNV I837T 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 114991 chr2 216230302 216230302 C T rs557049566 FN1 Nonsynonymous SNV R2151H 0 0 0 2 0 0 0.005 0 0 0 0 0 35 114992 chr11 64807361 64807361 A G rs533711786 ARL2-SNX15 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 2.272 114993 chr11 30034014 30034014 C T KCNA4 Nonsynonymous SNV C71Y 0.003 0 0 0 3 0 0 0 0 0 0 0 12.87 114994 chr11 3249861 3249861 G T rs770107975 MRGPRE Nonsynonymous SNV P57T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.5 114995 chr11 33628324 33628324 A C rs199776321 KIAA1549L Nonsynonymous SNV T1673P 0.003 0 0 0 4 0 0 0 0 0 0 0 1.509 114996 chr2 189863424 189863424 C A rs1801183 COL3A1 Nonsynonymous SNV P668T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 114997 chr12 12483357 12483357 T C rs923054598 MANSC1 Synonymous SNV T300T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.776 114998 chr12 12232647 12232647 C T rs61729499 BCL2L14 Synonymous SNV N136N 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 7.129 114999 chr2 192701301 192701301 G T rs34841326 CAVIN2 Nonsynonymous SNV P209H 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 1.586 115000 chr11 3680891 3680891 G A rs768939051 ART1 Nonsynonymous SNV D48N 0.002 0 0 0 2 0 0 0 0 0 0 0 24 115001 chr2 196737016 196737016 T C rs373322769 DNAH7 Synonymous SNV T2197T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.615 115002 chr12 125561091 125561091 C T rs376488677 AACS Nonsynonymous SNV R98W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 115003 chr2 196753552 196753552 T C rs746396281 DNAH7 Nonsynonymous SNV M1734V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 115004 chr2 234602262 234602262 T - rs779391112 UGT1A6 S206Pfs*38 0.003 0 0 0 4 0 0 0 0 0 0 0 115005 chr12 53162797 53162797 G A rs779423229 KRT76 Synonymous SNV G539G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.326 115006 chr12 123950471 123950471 G A rs112947708 SNRNP35 Synonymous SNV L128L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 10.37 115007 chr11 551229 551229 C A rs201646765 LRRC56 Synonymous SNV A241A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 9.223 115008 chr11 4409733 4409733 T C rs766661587 TRIM21 Nonsynonymous SNV I178V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.87 115009 chr11 551283 551283 C T rs189029432 LRRC56 Synonymous SNV G259G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.724 115010 chr11 552631 552631 G A rs138766042 LRRC56 Nonsynonymous SNV R415Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.26 115011 chr2 237489180 237489180 C T rs115338217 ACKR3 Synonymous SNV S24S 0.004 0 0 0 5 0 0 0 0 0 0 0 15.26 115012 chr12 1702138 1702138 G A rs374907012 FBXL14 Synonymous SNV G365G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.349 115013 chr11 67375944 67375944 C T rs11540012 NDUFV1 Synonymous SNV D41D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.07 115014 chr12 542393 542393 A T rs150836970 CCDC77 Nonsynonymous SNV Q210H 0.009 0.013 0.01 5 11 5 0.013 3 0 0 0 0 18.06 115015 chr11 556916 556916 T C rs114398401 LMNTD2 Nonsynonymous SNV I299V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.001 115016 chr12 54369047 54369047 G C rs142129926 HOXC11 Synonymous SNV V255V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.866 115017 chr12 21331865 21331865 A G rs372477451 SLCO1B1 Nonsynonymous SNV N213S 0.003 0 0 0 3 0 0 0 0 0 0 0 2.741 115018 chr11 559526 559526 C T rs7103770 LMNTD2-AS1 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.773 115019 chr2 239038926 239038926 A G rs761111040 ESPNL Nonsynonymous SNV Q156R 0.001 0 0 5 1 0 0.013 0 0 0 0 0 9.245 115020 chr11 47612315 47612340 GGCCCAGCAGGCCGCTGGGCCCAGCA - rs770320241 C1QTNF4 L8Pfs*11 0.003 0.003 0 0 3 1 0 0 0 0 0 0 115021 chr3 142405191 142405191 C T rs41265481 PLS1 Synonymous SNV A318A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 16.8 115022 chr3 147131244 147131244 C G rs750902943 ZIC1 Nonsynonymous SNV P417R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 115023 chr2 239181810 239181810 C T rs142139283 PER2 Synonymous SNV L157L 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Likely benign 14.44 115024 chr12 55968996 55968996 T C rs188069880 OR2AP1 Synonymous SNV D266D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 0.005 115025 chr3 150127546 150127546 C T rs144183125 TSC22D2 Nonsynonymous SNV P137S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.79 115026 chr2 209028008 209028008 G A rs116623945 CRYGA Synonymous SNV L58L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 10.29 115027 chr12 21174497 21174497 G A rs140440781 SLCO1B7 Synonymous SNV P107P 0.013 0.008 0.003 1 15 3 0.003 1 0 0 0 0 6.939 115028 chr12 133225938 133225938 C T rs772663586 POLE Nonsynonymous SNV R1320Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.1 115029 chr2 230861562 230861562 T A FBXO36 Nonsynonymous SNV L101M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 115030 chr2 241871802 241871802 G A rs146400153 CROCC2 Nonsynonymous SNV A339T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 0.232 115031 chr12 56996506 56996506 C G rs117752378 BAZ2A Nonsynonymous SNV G1139R 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 23.7 115032 chr12 22059121 22059121 C T rs143346402 ABCC9 Synonymous SNV E519E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.14 115033 chr3 155314081 155314081 G C rs531702862 PLCH1 Nonsynonymous SNV L44V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 115034 chr12 14943551 14943551 G A rs148994715 WBP11 Nonsynonymous SNV T383I 0.003 0.008 0.003 6 4 3 0.015 1 0 0 0 0 23.2 115035 chr12 15035187 15035187 G A rs151158281 MGP Synonymous SNV H66H 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.001 115036 chr2 242573192 242573192 C T THAP4 Stop gain W127X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 115037 chr11 72945666 72945666 C A rs139591958 P2RY2 Synonymous SNV A154A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.27 115038 chr12 32875454 32875454 C T rs118169466 DNM1L Synonymous SNV Y119Y 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 12.45 115039 chr12 58023964 58023964 C T rs200882795 B4GALNT1 Nonsynonymous SNV R173Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.3 115040 chr12 21628740 21628740 - A RECQL Frameshift insertion S323Ffs*6 0 0.003 0 1 0 1 0.003 0 0 0 0 0 115041 chr11 562380 562380 G A rs146029107 RASSF7 Synonymous SNV A142A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.447 115042 chr2 219647120 219647120 T A rs138189735 CYP27A1 Nonsynonymous SNV L72Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.2 115043 chr12 25002772 25002772 G A rs201533470 BCAT1 Nonsynonymous SNV P147S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 22.9 115044 chr12 42839923 42839923 G A rs201876048 PPHLN1 Nonsynonymous SNV R299H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.984 115045 chr3 172642102 172642102 T A SPATA16 Stop gain K412X 0.002 0 0 0 2 0 0 0 0 0 0 0 42 115046 chr12 26217950 26217950 G A rs117015558 RASSF8 Nonsynonymous SNV R208H 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Likely benign 21.9 115047 chr12 39726394 39726394 T C KIF21A Nonsynonymous SNV K916R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.98 115048 chr2 238736124 238736124 A G rs759055217 RBM44 Nonsynonymous SNV I861V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 115049 chr12 27850145 27850145 A G rs749145956 REP15 Nonsynonymous SNV N217S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.14 115050 chr3 182988714 182988714 G A rs146983135 B3GNT5 Synonymous SNV A376A 0.003 0 0 0 4 0 0 0 0 0 0 0 1.186 115051 chr11 77815090 77815090 T C rs200068321 ALG8 Nonsynonymous SNV I429V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.99 115052 chr12 48577976 48577976 C T rs149687484 CCDC184 Nonsynonymous SNV T24I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 115053 chr12 44148312 44148312 T C PUS7L Nonsynonymous SNV H246R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 115054 chr12 31653397 31653397 T G rs147948264 DENND5B Synonymous SNV S32S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 5.524 115055 chr3 13612093 13612093 C G rs767350852 FBLN2 Nonsynonymous SNV R80G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.326 115056 chr12 4737269 4737269 T C AKAP3 Nonsynonymous SNV R267G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 115057 chr2 228149006 228149006 C T rs201064766 COL4A3 Synonymous SNV P942P 0.009 0 0.003 4 10 0 0.01 1 0 0 0 0 Likely benign 9.638 115058 chr12 51236893 51236893 A G rs561577287 TMPRSS12 Nonsynonymous SNV K49R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 115059 chr2 232373610 232373611 AA - LINC00471 0 0 0.003 0 0 0 0 1 0 0 0 0 115060 chr12 49167367 49167367 T C rs567783942 ADCY6 Nonsynonymous SNV I836V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 115061 chr12 49942730 49942730 C T KCNH3 Synonymous SNV G354G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 115062 chr3 28566126 28566126 G A rs200677939 ZCWPW2 Nonsynonymous SNV E278K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 115063 chr2 234669074 234669074 C T rs34526305 UGT1A1 Synonymous SNV I47I 0.004 0.003 0.017 0 5 1 0 5 0 0 0 0 Conflicting interpretations of pathogenicity 14.34 115064 chr3 9868870 9868870 G A rs35644696 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV R498H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.8 115065 chr3 9868871 9868871 C G ARPC4-TTLL3, TTLL3 Synonymous SNV R498R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 115066 chr2 234749862 234749862 A G HJURP Nonsynonymous SNV S437P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 115067 chr12 53042041 53042041 A G rs756544221 KRT2 Synonymous SNV D346D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.204 115068 chr11 93839219 93839219 A C rs200078708 HEPHL1 Nonsynonymous SNV N990H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 115069 chr12 5153380 5153380 C G KCNA5 Nonsynonymous SNV R23G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.99 115070 chr3 38348006 38348006 C T rs114762122 SLC22A14 Synonymous SNV D163D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.43 115071 chr12 53238384 53238384 G A rs778802464 KRT78 Nonsynonymous SNV R184W 0.002 0 0 0 2 0 0 0 0 0 0 0 12.28 115072 chr2 239136359 239136359 C T rs890762583 LINC02610 0 0 0.007 0 0 0 0 2 0 0 0 0 15.82 115073 chr12 53452994 53452994 G A rs201649541 TNS2 Synonymous SNV P533P 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 11.54 115074 chr12 52400747 52400747 G C rs894982049 GRASP-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.29 115075 chr3 42264683 42264683 G A rs200326631 TRAK1 Synonymous SNV T677T 0.011 0.013 0 3 13 5 0.008 0 0 0 0 0 0.856 115076 chr11 613978 613978 C T rs201379782 IRF7 Nonsynonymous SNV G260R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 0.06 115077 chr2 241468682 241468682 T C rs772903903 ANKMY1 Nonsynonymous SNV Y153C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 115078 chr11 614799 614799 C T rs201036875 IRF7 Nonsynonymous SNV R144Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 18.12 115079 chr12 53002163 53002163 G A rs114995859 KRT73 Synonymous SNV Y480Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.454 115080 chr12 53044156 53044156 T C rs144222539 KRT2 Nonsynonymous SNV N256S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.34 115081 chr11 617627 617627 G C rs201483927 CDHR5 Synonymous SNV S560S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.085 115082 chr12 992725 992725 A G rs141971833 WNK1 Synonymous SNV S971S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 8.216 115083 chr3 43618335 43618335 G A rs373827579 ANO10 Synonymous SNV F226F 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 Likely benign 10.23 115084 chr2 242742812 242742812 C T rs141828605 GAL3ST2 Nonsynonymous SNV P143L 0.003 0 0.007 0 4 0 0 2 0 0 0 0 32 115085 chr2 242758200 242758200 G A rs376953155 NEU4 Synonymous SNV P440P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.11 115086 chr12 10875609 10875609 G T rs541937999 YBX3 Nonsynonymous SNV S34R 0.008 0.003 0.003 0 9 1 0 1 2 0 0 0 14.16 115087 chr12 56031493 56031493 G A rs146503734 OR10P1 Nonsynonymous SNV R273H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.9 115088 chr12 56811549 56811549 C T rs151146974 TIMELESS Nonsynonymous SNV G1192E 0.007 0.005 0.01 1 8 2 0.003 3 0 0 0 0 Likely benign 0.157 115089 chr2 26712094 26712094 C T rs200958458 OTOF Nonsynonymous SNV V344M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 115090 chr2 26915851 26915851 C G rs1010960867 KCNK3 Nonsynonymous SNV I36M 0 0 0.007 0 0 0 0 2 0 0 0 0 13.16 115091 chr12 109939325 109939325 T C rs767155819 UBE3B Nonsynonymous SNV V423A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 115092 chr12 56863170 56863170 A G rs749408572 SPRYD4 Nonsynonymous SNV I145V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.789 115093 chr12 54911392 54911392 A G rs7311877 NCKAP1L Nonsynonymous SNV T341A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.38 115094 chr11 5655956 5655956 G C rs185832700 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV L205F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.9 115095 chr12 111052097 111052097 C G rs775749667 TCTN1 Nonsynonymous SNV S37C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 115096 chr12 55688939 55688939 - A rs545296708 OR6C6 Frameshift insertion L27Pfs*37 0.003 0 0 1 4 0 0.003 0 0 0 0 0 115097 chr2 27910861 27910861 C T rs141228161 SLC4A1AP Nonsynonymous SNV T726I 0 0 0.007 0 0 0 0 2 0 0 0 0 5.258 115098 chr13 113817332 113817332 C G rs145523497 PROZ Nonsynonymous SNV P90R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 115099 chr13 113818851 113818851 G A rs763340899 PROZ Nonsynonymous SNV R133Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 115100 chr13 114307232 114307232 C T rs745682358 ATP4B Nonsynonymous SNV G171S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 115101 chr12 56092610 56092610 C T rs148190047 ITGA7 Synonymous SNV V298V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Benign/Likely benign 15.21 115102 chr12 6105322 6105322 C T rs370223669 VWF Nonsynonymous SNV G1970D 0.002 0 0 0 2 0 0 0 0 0 0 0 33 115103 chr12 6138532 6138532 G A rs369031938 VWF Synonymous SNV S981S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.308 115104 chr12 56514414 56514414 G A rs143673140 ZC3H10 Nonsynonymous SNV S23N 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 2.545 115105 chr12 57590913 57590913 G A rs141393147 LRP1 Nonsynonymous SNV R3014H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 115106 chr2 31560594 31560594 A G rs148477626 XDH Synonymous SNV G1288G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.087 115107 chr12 57488456 57488456 G A rs151325584 NAB2 Synonymous SNV E446E 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 6.304 115108 chr12 6143953 6143953 C A rs34510401 VWF Synonymous SNV V862V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 17.27 115109 chr2 3751415 3751415 - C DCDC2C Frameshift insertion F27Vfs*95 0 0 0.003 0 0 0 0 1 0 0 0 0 115110 chr12 120146026 120146026 A T rs56167781 CIT Synonymous SNV I1681I 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 0.021 115111 chr12 66923661 66923661 A G rs765879233 GRIP1 Nonsynonymous SNV V151A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 115112 chr12 6730091 6730091 G C rs745712870 LPAR5 Nonsynonymous SNV S108R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 115113 chr12 120195334 120195334 C T CIT Synonymous SNV E807E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 115114 chr12 58128166 58128166 A G rs41292015 AGAP2 Nonsynonymous SNV M446T 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 23.2 115115 chr12 6777070 6777087 TGCTGCTGCTGCTGCTGC - ZNF384 Q395_Q400del 0.001 0 0 0 1 0 0 0 0 0 0 0 115116 chr3 53263321 53263321 G A rs150763423 TKT Synonymous SNV C413C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.51 115117 chr12 62954815 62954815 T C rs61752537 MON2 Synonymous SNV F1318F 0.009 0.013 0 5 10 5 0.013 0 0 0 0 0 1.439 115118 chr12 6978344 6978344 T C rs141972556 TPI1 Synonymous SNV D107D 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Benign/Likely benign 5.853 115119 chr12 7045900 7045900 - CAG ATN1 Q502_H503insQ 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 115120 chr2 44102444 44102444 G A rs149441561 ABCG8 Nonsynonymous SNV A549T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 15.2 115121 chr4 26483532 26483532 C T rs532932146 CCKAR Nonsynonymous SNV D339N 0.004 0 0 2 5 0 0.005 0 0 0 0 0 27.8 115122 chr12 6687020 6687020 A G rs71584868 CHD4 Synonymous SNV P1757P 0.012 0.003 0.024 3 14 1 0.008 7 0 0 0 0 Benign 7.627 115123 chr3 45267361 45267361 C T rs72549122 TMEM158 Synonymous SNV S53S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.89 115124 chr12 122247951 122247951 C T rs113279920 SETD1B Nonsynonymous SNV P367L 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 23.4 115125 chr2 46707595 46707595 G C rs139055089 TMEM247 Nonsynonymous SNV E57Q 0.001 0.005 0.024 3 1 2 0.008 7 0 0 0 0 21.5 115126 chr12 66641621 66641621 C - rs776951445 IRAK3 N426Kfs*10 0.01 0.016 0.007 10 12 6 0.026 2 0 0 0 0 115127 chr12 7045900 7045900 - CAGCAGCAGCAG ATN1 Q502_H503insQQQQ 0.003 0 0 0 3 0 0 0 0 0 0 0 115128 chr11 67265082 67265082 C T rs754113945 PITPNM1 Synonymous SNV L617L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.178 115129 chr12 70794056 70794056 A G rs565199228 KCNMB4 Nonsynonymous SNV Q135R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 115130 chr12 70983804 70983804 C T rs752416152 PTPRB Nonsynonymous SNV V446M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 115131 chr12 123346007 123346007 C A rs902582253 HIP1R Synonymous SNV T1035T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 115132 chr13 42306246 42306246 G A rs140606091 VWA8 Synonymous SNV D824D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.66 115133 chr12 124341678 124341678 G A rs199649662 DNAH10 Nonsynonymous SNV G2054S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 115134 chr2 56216090 56216090 A T rs41291179 MIR216A 0 0 0.051 0 0 0 0 15 0 0 1 0 12.48 115135 chr2 60688331 60688331 G A rs114252508 BCL11A Synonymous SNV R538R 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 4.285 115136 chr12 77220813 77220813 A G rs755057508 ZDHHC17 Synonymous SNV T331T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.187 115137 chr3 49349908 49349908 A - rs776758552 USP4 F278Lfs*25 0 0 0 1 0 0 0.003 0 0 0 0 0 115138 chr2 7018256 7018256 T C rs752677354 RSAD2 Synonymous SNV L109L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 115139 chr4 52861973 52861973 C T rs370321981 LRRC66 Stop gain W405X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 115140 chr12 80672041 80672041 A G OTOGL Synonymous SNV T916T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.156 115141 chr2 71206971 71206971 A T rs139132664 ANKRD53 Stop gain K200X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 115142 chr12 131605443 131605443 C T rs11610576 ADGRD1 Synonymous SNV A720A 0.017 0.01 0.007 5 20 4 0.013 2 0 0 0 0 17.94 115143 chr3 100365445 100365445 T C rs781027997 ADGRG7 Synonymous SNV Y86Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 115144 chr11 72415428 72415428 C T rs200564847 ARAP1-AS2 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 5.062 115145 chr2 73474997 73474997 C T rs760750893 CCT7 Synonymous SNV V38V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 115146 chr2 73491644 73491644 C T rs61733550 FBXO41 Nonsynonymous SNV R523H 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 23.8 115147 chr2 73651866 73651866 A G ALMS1 Nonsynonymous SNV E358G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 115148 chr13 60453495 60453495 A G rs74734305 DIAPH3 Synonymous SNV T562T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.627 115149 chr2 74592275 74592275 G C rs769629500 DCTN1 Synonymous SNV S907S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.325 115150 chr11 74570248 74570248 G C rs55842712 XRRA1 Synonymous SNV A367A 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 7.804 115151 chr3 111766743 111766743 C T rs774411723 TMPRSS7 Synonymous SNV A170A 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 20.5 115152 chr11 763357 763357 C G rs144914498 TALDO1 Nonsynonymous SNV Q159E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 7.832 115153 chr2 85981436 85981436 A G rs141674394 ATOH8 Nonsynonymous SNV T42A 0 0 0.003 3 0 0 0.008 1 0 0 0 0 18.01 115154 chr4 73148887 73148887 C T rs909325064 ADAMTS3 Nonsynonymous SNV R1195K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.23 115155 chr2 88387578 88387578 C T rs372467258 SMYD1 Nonsynonymous SNV S171L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 115156 chr3 57232938 57232938 C G rs141863326 HESX1 Nonsynonymous SNV S67T 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 0.001 115157 chr12 95926991 95926991 T C rs7135642 USP44 Nonsynonymous SNV R348G 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Benign 11.02 115158 chr12 95927087 95927087 C G rs7305024 USP44 Nonsynonymous SNV E316Q 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 8.256 115159 chr3 113667654 113667654 C T ZDHHC23 Nonsynonymous SNV T2I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 115160 chr12 96406995 96406995 G A rs2228061 LTA4H Synonymous SNV Y450Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.555 115161 chr12 99109317 99109317 A C APAF1 Nonsynonymous SNV D970A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 115162 chr2 97483211 97483211 G A rs34228766 CNNM3 Synonymous SNV L399L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.629 115163 chr3 119347639 119347639 A G rs770434458 PLA1A Nonsynonymous SNV N232D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 115164 chr2 97519159 97519159 G A rs138273341 ANKRD39 Synonymous SNV D129D 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 4.66 115165 chr4 77952089 77952089 G A rs764894616 SEPTIN11 Nonsynonymous SNV A414T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.58 115166 chr2 98376209 98376209 C T rs191573811 TMEM131 Synonymous SNV S1704S 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 20.7 115167 chr11 800236 800236 G A PIDD1 Synonymous SNV F723F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.836 115168 chr13 103392434 103392434 A G CCDC168 Nonsynonymous SNV I3538T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.089 115169 chr11 829993 829993 G A rs762687447 CRACR2B Nonsynonymous SNV A156T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.2 115170 chr4 81284017 81284017 T A rs369821065 CFAP299 Nonsynonymous SNV L74Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.23 115171 chr11 85436303 85436303 T C rs3851177 SYTL2 Synonymous SNV V1366V 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 0.028 115172 chr3 107646959 107646959 T A rs62262295 LINC00636 0 0 0.058 0 0 0 0 17 0 0 0 0 8.569 115173 chr11 86663296 86663296 G A rs61735303 FZD4 Nonsynonymous SNV P168S 0.013 0.016 0 3 15 6 0.008 0 0 0 0 0 Benign 16.78 115174 chr13 111563063 111563063 T C rs141005738 ANKRD10 Nonsynonymous SNV T89A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.511 115175 chr3 124739706 124739706 C T rs113503641 HEG1 Synonymous SNV E394E 0.012 0.003 0.01 1 14 1 0.003 3 0 0 0 0 9.857 115176 chr13 114061073 114061073 G A LOC101928841 Nonsynonymous SNV R478W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.374 115177 chr13 113851548 113851548 A G rs11540897 PCID2 Synonymous SNV Y70Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.754 115178 chr13 114535398 114535398 G A GAS6 Synonymous SNV G339G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.876 115179 chr12 45269057 45269057 C T rs139707640 NELL2 Synonymous SNV V45V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.22 115180 chr13 21549384 21549384 G A rs55869942 LATS2 Synonymous SNV A964A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.306 115181 chr13 24797169 24797169 G A rs369711697 SPATA13 Synonymous SNV S34S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.341 115182 chr3 120371441 120371441 T G rs201753011 HGD Nonsynonymous SNV S114R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 115183 chr13 25373634 25373634 A G rs9507413 RNF17 Nonsynonymous SNV S501G 0.003 0.01 0 1 4 4 0.003 0 1 0 0 0 Likely benign 16.85 115184 chr13 25839959 25839959 C T rs142057652 MTMR6 Nonsynonymous SNV E197K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 11.95 115185 chr14 23467791 23467791 C T rs202082073 C14orf93 Nonsynonymous SNV V148M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 28.2 115186 chr13 39263609 39263609 C T rs41292753 FREM2 Nonsynonymous SNV R710C 0.001 0.008 0.014 2 1 3 0.005 4 0 0 1 0 Conflicting interpretations of pathogenicity 28.8 115187 chr4 113565966 113565966 G T rs373448853 LARP7 Synonymous SNV G47G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.19 115188 chr13 33628249 33628249 T C KL Synonymous SNV L389L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 115189 chr4 122604564 122604564 T C ANXA5 Synonymous SNV K86K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.31 115190 chr12 109182218 109182218 G C rs146273433 SSH1 Nonsynonymous SNV P899R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.04 115191 chr13 33638145 33638145 C T rs139939367 KL Nonsynonymous SNV P954L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.9 115192 chr3 149260294 149260294 G A rs761764314 WWTR1 Nonsynonymous SNV A200V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 115193 chr3 124237267 124237267 G T rs151230895 KALRN Synonymous SNV R1600R 0 0 0 2 0 0 0.005 0 0 0 0 0 6.581 115194 chr13 42875958 42875958 T C AKAP11 Nonsynonymous SNV C1026R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 115195 chr3 129183576 129183576 C T rs890003432 IFT122 Nonsynonymous SNV P120L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 115196 chr13 52439662 52439662 G C rs144343396 CCDC70 Nonsynonymous SNV A39P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.22 115197 chr11 792688 792688 G A rs750386693 SLC25A22 Nonsynonymous SNV S151L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.635 115198 chr3 129988637 129988637 T C rs6439224 COL6A4P2 0 0 0.041 0 0 0 0 12 0 0 6 0 0.124 115199 chr14 36989306 36989306 C T rs201979429 NKX2-1 Nonsynonymous SNV R10Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 24.3 115200 chr3 126710337 126710337 C T rs116342901 PLXNA1 Synonymous SNV T435T 0.004 0.003 0.003 8 5 1 0.021 1 0 0 0 0 Benign 12.1 115201 chr3 127395188 127395188 G A rs144347065 ABTB1 Nonsynonymous SNV V132I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 115202 chr11 85437091 85437091 T C rs201305323 SYTL2 Nonsynonymous SNV K1104E 0.011 0 0 1 13 0 0.003 0 0 0 0 0 18.37 115203 chr4 152637228 152637228 C T rs35487764 GATB Synonymous SNV A232A 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 20.4 115204 chr3 133534509 133534509 C T rs776180109 SRPRB Synonymous SNV V162V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 115205 chr3 133647437 133647437 C T rs200731541 C3orf36 0 0.005 0.01 2 0 2 0.005 3 0 0 0 0 12.71 115206 chr4 154625226 154625226 A G rs139162224 TLR2 Synonymous SNV L389L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 115207 chr13 52585454 52585455 TG - rs749363958 ATP7B Q7Dfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 115208 chr14 50585488 50585488 A C rs756940411 SOS2 Synonymous SNV V1191V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.015 115209 chr13 72133998 72133998 G A rs199934701 DACH1 Synonymous SNV S463S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 13.15 115210 chr12 54394264 54394264 G A rs767703857 HOXC9 Nonsynonymous SNV E98K 0.002 0 0 0 2 0 0 0 0 0 0 0 25 115211 chr13 75880518 75880518 T C rs369089434 TBC1D4 Nonsynonymous SNV K832E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.2 115212 chr4 160271330 160271330 T C RAPGEF2 Nonsynonymous SNV S1091P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.9 115213 chr3 139258462 139258462 G C RBP1 Nonsynonymous SNV H33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 115214 chr13 79191011 79191011 G A rs375560164 OBI1 Synonymous SNV G295G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.821 115215 chr4 169305875 169305875 A T DDX60L Nonsynonymous SNV L1335H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 115216 chr14 58060707 58060707 T C rs145246618 SLC35F4 Nonsynonymous SNV Q80R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.815 115217 chr14 103173756 103173756 C A rs149418829 RCOR1 Synonymous SNV T189T 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 19.67 115218 chr14 58605689 58605689 G A ARMH4 Stop gain Q130X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 115219 chr14 103416241 103416241 C T rs571661306 CDC42BPB Nonsynonymous SNV V1104I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 115220 chr14 103566848 103566848 G A rs578074411 EXOC3L4 Nonsynonymous SNV G98S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 115221 chr3 185209476 185209476 G A rs12107045 TMEM41A Nonsynonymous SNV A215V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.1 115222 chr14 59826182 59826182 A C rs61740455 DAAM1 Nonsynonymous SNV N865H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 12.24 115223 chr12 122091032 122091032 G T rs150726577 MORN3 Synonymous SNV I199I 0.006 0.013 0 3 7 5 0.008 0 0 0 0 0 12.22 115224 chr3 148773092 148773092 T C rs746925328 HLTF Nonsynonymous SNV I490V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 115225 chr3 148927156 148927156 T C rs200933607 CP Nonsynonymous SNV E208G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 115226 chr4 177114699 177114699 A C rs75165690 SPATA4 Nonsynonymous SNV F85V 0.003 0 0 0 3 0 0 0 0 0 0 0 20.6 115227 chr12 57488472 57488472 G A rs757950689 NAB2 Nonsynonymous SNV V452M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 115228 chr14 61186733 61186733 T C rs61740042 SIX4 Nonsynonymous SNV T432A 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 0.555 115229 chr14 61190562 61190562 - GCC rs774188500 SIX4 A77_G78insA 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 115230 chr4 178352880 178352880 T C rs113407270 AGA Synonymous SNV E341E 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 3.688 115231 chr14 102918909 102918909 C G rs774384501 TECPR2 Synonymous SNV L1195L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.37 115232 chr3 151986711 151986711 A C MBNL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 115233 chr3 150421527 150421527 - TCCTCCTCCTCCTCCACCTCTTCCTCCTCCTCCTCCACCTCT ERICH6 V55_V56insEEEEEEVEEEEEEV 0.011 0.005 0 3 13 2 0.008 0 3 0 0 0 115234 chr14 105350820 105350820 G A CEP170B Synonymous SNV G498G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.285 115235 chr14 64547323 64547323 G C rs144596211 SYNE2 Nonsynonymous SNV Q3771H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 115236 chr12 124171486 124171486 C T rs145374149 TCTN2 Nonsynonymous SNV T222M 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 Uncertain significance 16.56 115237 chr14 105609400 105609400 G A rs34728766 JAG2 Nonsynonymous SNV R1079W 0.01 0.003 0.014 6 12 1 0.015 4 0 0 0 0 Likely benign 33 115238 chr12 64173854 64173854 G A rs935889466 RXYLT1 Synonymous SNV G38G 0.004 0 0 0 5 0 0 0 0 0 0 0 11.1 115239 chr4 187518208 187518208 G A rs768651990 FAT1 Synonymous SNV C4162C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.899 115240 chr12 106712165 106712165 G T rs200134102 TCP11L2 Nonsynonymous SNV D113Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 115241 chr14 68264912 68264912 G A rs141880939 ZFYVE26 Synonymous SNV L689L 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 8.281 115242 chr12 107155131 107155131 T G rs17038766 RFX4 Nonsynonymous SNV S604A 0.007 0.013 0.003 1 8 5 0.003 1 0 0 0 0 Benign 10.3 115243 chr12 108004037 108004037 C T rs61747550 BTBD11 Synonymous SNV L109L 0.003 0.003 0.01 0 4 1 0 3 0 0 1 0 17.72 115244 chr12 108082574 108082574 A G rs113344620 PWP1 Nonsynonymous SNV D43G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.77 115245 chr12 108128135 108128135 T C rs200596155 PRDM4 Nonsynonymous SNV K753R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.4 115246 chr12 108145442 108145442 C T rs113090370 PRDM4 Synonymous SNV V292V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.78 115247 chr12 66731862 66731862 A G rs754242417 HELB Nonsynonymous SNV T1082A 0.004 0 0 0 5 0 0 0 0 0 0 0 1.715 115248 chr12 108169494 108169494 C A rs146403821 ASCL4 Nonsynonymous SNV P168T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 115249 chr14 20404340 20404340 A G rs75008557 OR4K1 Nonsynonymous SNV N172S 0.02 0.016 0.017 1 23 6 0.003 5 0 0 0 0 23.8 115250 chr12 67696266 67696266 G A rs144692083 CAND1 Synonymous SNV E388E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 115251 chr3 177159821 177159821 A C rs7631383 LINC00578 0 0 0.153 0 0 0 0 45 0 0 1 0 3.165 115252 chr3 178137006 178137006 T A rs58192652 LINC01014 0 0 0.007 0 0 0 0 2 0 0 0 0 15.74 115253 chr3 183056626 183056626 T C rs779938489 MCF2L2 Nonsynonymous SNV I150V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 115254 chr14 20871901 20871901 C T rs770172232 TEP1 Nonsynonymous SNV R392H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 115255 chr14 75470349 75470349 C T rs150617429 EIF2B2 Nonsynonymous SNV A127V 0.003 0.016 0.01 2 4 6 0.005 3 0 0 0 0 Uncertain significance 23.5 115256 chr14 23511920 23511920 C T rs146768465 PSMB11 Synonymous SNV Y162Y 0.008 0.01 0.007 5 9 4 0.013 2 0 0 0 0 Benign 5.657 115257 chr12 14927737 14927737 C G rs1823 H2AJ Nonsynonymous SNV N111K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 115258 chr12 14959292 14959292 T A rs139378466 SMCO3 Nonsynonymous SNV D108V 0.008 0.005 0.014 0 9 2 0 4 0 0 0 0 22.7 115259 chr4 2252881 2252881 C T rs144352901 MXD4 Synonymous SNV S134S 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 17.99 115260 chr14 77845357 77845357 A G SAMD15 Synonymous SNV P532P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.234 115261 chr12 80729760 80729760 T C OTOGL Synonymous SNV P1471P 0.004 0 0 0 5 0 0 0 0 0 0 0 4.149 115262 chr4 3076606 3076606 - CAG HTT Q38_P39insQ 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 115263 chr14 21813322 21813322 G A rs781067701 RPGRIP1 Nonsynonymous SNV D1195N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.54 115264 chr4 3416543 3416543 A G rs755008956 RGS12 Nonsynonymous SNV N104S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.068 115265 chr5 35032915 35032915 C T rs754058275 AGXT2 Nonsynonymous SNV V231I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.42 115266 chr3 188327019 188327019 C T rs149437411 LPP Nonsynonymous SNV P167L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 115267 chr14 24676505 24676505 C G rs757755969 TSSK4 Stop gain Y208X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 115268 chr14 24775316 24775316 G A rs143381849 CIDEB Nonsynonymous SNV R122W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 115269 chr5 35873634 35873634 C T rs587778404 IL7R Nonsynonymous SNV P197L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 24.2 115270 chr3 191093019 191093019 C T rs138153104 CCDC50 Nonsynonymous SNV S206F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 115271 chr4 5991304 5991304 G T rs574861877 C4orf50 Synonymous SNV G644G 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 0.06 115272 chr14 23598870 23598870 G A rs146946494 SLC7A8 Nonsynonymous SNV R194C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 35 115273 chr12 91539844 91539844 G A rs767455312 DCN Synonymous SNV N170N 0.003 0 0 0 4 0 0 0 0 0 0 0 4.832 115274 chr12 21457422 21457422 C T rs142503707 SLCO1A2 Synonymous SNV L176L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.43 115275 chr12 21639513 21639513 G A rs150306543 RECQL Nonsynonymous SNV T134I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 31 115276 chr14 31590686 31590686 C T rs370774239 HECTD1 Nonsynonymous SNV R1714H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 115277 chr4 6598903 6598903 G T rs144033191 MAN2B2 Nonsynonymous SNV R323L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.8 115278 chr14 93119232 93119232 G C rs12434929 RIN3 Nonsynonymous SNV G538A 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 2.798 115279 chr3 194126820 194126820 C A ATP13A3 Nonsynonymous SNV C1170F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 115280 chr3 194366920 194366920 C T rs200562904 LSG1 Synonymous SNV A532A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.4 115281 chr14 94545746 94545746 G C rs61757452 DDX24 Nonsynonymous SNV Q115E 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.001 115282 chr14 36988623 36988623 G A rs147791173 NKX2-1-AS1 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 14.06 115283 chr12 96360286 96360286 G A rs141724326 AMDHD1 Nonsynonymous SNV R398Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 115284 chr14 94780647 94780647 G A rs143474136 SERPINA6 Synonymous SNV H113H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.315 115285 chr12 96958292 96958292 G A rs117613570 CFAP54 Synonymous SNV P819P 0.004 0 0 0 5 0 0 0 0 0 0 0 7.43 115286 chr14 94908995 94908995 G C rs17752285 SERPINA11 Nonsynonymous SNV T406S 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 5.711 115287 chr14 94935616 94935616 C - rs74947133 SERPINA9 Stop gain V108* 0.006 0.003 0 0 7 1 0 0 0 0 0 0 115288 chr12 97137213 97137213 A G rs548857046 CFAP54 Nonsynonymous SNV N2418S 0.004 0 0 0 5 0 0 0 0 0 0 0 8.898 115289 chr12 97157933 97157933 C A rs12581184 CFAP54 Nonsynonymous SNV P2682H 0.005 0 0 0 6 0 0 0 0 0 0 0 12.16 115290 chr12 97186242 97186242 C A rs12582405 CFAP54 Nonsynonymous SNV P2939T 0.005 0 0 0 6 0 0 0 0 0 0 0 20.5 115291 chr12 131466490 131466490 G A rs145796361 ADGRD1 Synonymous SNV A124A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 8.321 115292 chr5 68411956 68411956 G T rs61761950 SLC30A5 Synonymous SNV R329R 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 3.568 115293 chr14 36211700 36211700 T C rs142294657 RALGAPA1 Synonymous SNV Q441Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 0.049 115294 chr3 3170857 3170857 C T rs75033443 TRNT1 Synonymous SNV L45L 0.005 0.005 0.017 1 6 2 0.003 5 0 0 0 0 Benign 16.25 115295 chr3 3182295 3182295 G T rs41399044 TRNT1 Synonymous SNV A148A 0.006 0.008 0.02 2 7 3 0.005 6 0 0 0 0 Benign 12.3 115296 chr13 103390086 103390086 C T rs117481050 CCDC168 Nonsynonymous SNV E4321K 0.009 0 0 1 10 0 0.003 0 0 0 0 0 2.432 115297 chr15 24921124 24921124 G A rs772577429 NPAP1 Nonsynonymous SNV R37Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.872 115298 chr14 55422318 55422318 G A rs149025928 WDHD1 Nonsynonymous SNV T881I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 115299 chr14 45475265 45475265 C T rs138569436 TOGARAM1 Nonsynonymous SNV S900L 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 32 115300 chr4 36292242 36292244 ATC - rs763764935 DTHD1 I89del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 115301 chr14 45658159 45658159 G A rs377502779 FANCM Nonsynonymous SNV R1619H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.26 115302 chr15 28211897 28211897 C T rs151046206 OCA2 Synonymous SNV P501P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.02 115303 chr3 38103810 38103810 C A rs756436066 DLEC1 Nonsynonymous SNV T275K 0.001 0 0.01 0 1 0 0 3 0 0 0 0 17.97 115304 chr15 29561050 29561050 G A rs375268217 NSMCE3 Nonsynonymous SNV A287V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 115305 chr12 46591791 46591791 C T rs200881452 SLC38A1 Nonsynonymous SNV R392H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 115306 chr5 75896797 75896797 G A rs377512838 IQGAP2 Nonsynonymous SNV R361H 0.003 0 0 0 4 0 0 0 0 0 0 0 34 115307 chr3 38791611 38791611 G T rs762994113 SCN10A Nonsynonymous SNV A509D 0.001 0 0.01 0 1 0 0 3 0 0 0 0 10.93 115308 chr13 111532294 111532294 G A rs758425043 ANKRD10 Nonsynonymous SNV P318L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.83 115309 chr5 78340186 78340186 T C DMGDH Nonsynonymous SNV Y312C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 115310 chr3 41723127 41723127 A G rs181529013 ULK4 Synonymous SNV F648F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 115311 chr14 56763455 56763455 C T rs140013898 PELI2 Synonymous SNV N278N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 12.05 115312 chr14 56079139 56079139 C T rs748916844 KTN1 Nonsynonymous SNV L125F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.874 115313 chr13 115028428 115028428 C T rs149004037 CDC16 Nonsynonymous SNV A432V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 115314 chr13 19751466 19751466 G A rs764652416 TUBA3C Synonymous SNV I219I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.551 115315 chr14 58917309 58917309 A T rs144456198 KIAA0586 Nonsynonymous SNV E185V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.7 115316 chr13 21374975 21374975 C G XPO4 Nonsynonymous SNV D658H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 115317 chr14 70039040 70039040 G A rs932569889 CCDC177 Nonsynonymous SNV R434C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.2 115318 chr14 63447612 63447612 T C KCNH5 Nonsynonymous SNV N307S 0 0.003 0 0 0 1 0 0 0 0 0 0 23 115319 chr14 62194239 62194239 G A rs17099141 HIF1A Synonymous SNV K237K 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 13.27 115320 chr14 70990713 70990713 C T ADAM20 Synonymous SNV L254L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.9 115321 chr14 64467305 64467305 G A rs200437377 SYNE2 Nonsynonymous SNV R1169H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.731 115322 chr5 89924514 89924514 T A rs373868639 ADGRV1 Nonsynonymous SNV F458L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.2 115323 chr14 64568665 64568665 G T rs758104840 SYNE2 Nonsynonymous SNV A4133S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.305 115324 chr12 32135504 32135504 T C RESF1 Synonymous SNV L539L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.198 115325 chr3 47050775 47050775 G C rs201641746 NBEAL2 Nonsynonymous SNV G2710R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.2 115326 chr3 47103766 47103766 T C rs140252916 SETD2 Synonymous SNV S2016S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.446 115327 chr4 68528927 68528927 A C rs770303433 UBA6 Nonsynonymous SNV L323V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.801 115328 chr14 65009427 65009427 C T rs45446693 HSPA2 Synonymous SNV G620G 0.016 0.005 0.027 3 19 2 0.008 8 0 0 0 0 Benign 12.23 115329 chr3 47164351 47164351 G T rs115569620 SETD2 Nonsynonymous SNV T548K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 23.1 115330 chr3 4735407 4735407 C G rs61757110 ITPR1 Nonsynonymous SNV H1406Q 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Benign/Likely benign 22.9 115331 chr13 31233377 31233377 A T rs146751863 USPL1 Nonsynonymous SNV S726C 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 24 115332 chr12 52642517 52642517 C T rs73109221 KRT7 Synonymous SNV S461S 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 12.67 115333 chr15 42742512 42742512 C T rs762361078 ZNF106 Nonsynonymous SNV R630H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.921 115334 chr13 31725136 31725136 G T rs748195237 HSPH1 Nonsynonymous SNV L210M 0.004 0 0 0 5 0 0 0 0 0 0 0 22.3 115335 chr15 42982090 42982090 A G rs202077402 STARD9 Nonsynonymous SNV I2772V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Likely benign 0.001 115336 chr14 69994626 69994626 G T PLEKHD1 Nonsynonymous SNV R443L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 115337 chr13 32912560 32912560 G A rs28897724 BRCA2 Synonymous SNV L1356L 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 0.225 115338 chr5 96215485 96215485 A T rs140447588 ERAP2 Synonymous SNV I32I 0.002 0.013 0.003 2 2 5 0.005 1 0 0 0 0 0.01 115339 chr3 50137308 50137309 AA - rs756347106 RBM5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 115340 chr3 50327662 50327662 G A rs148311115 IFRD2 Synonymous SNV P173P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 1.808 115341 chr14 74062304 74062306 CTT - rs746249622 ACOT4 F406del 0.001 0 0 0 1 0 0 0 0 0 0 0 115342 chr4 20597407 20597407 C G rs770509123 SLIT2 Nonsynonymous SNV H1086Q 0 0 0 3 0 0 0.008 0 0 0 0 0 14.78 115343 chr3 50614965 50614965 G A rs2232250 HEMK1 Nonsynonymous SNV R192Q 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 11.75 115344 chr12 4848372 4848372 G A rs929693777 GALNT8 Nonsynonymous SNV V185I 0.004 0 0 0 5 0 0 0 0 0 0 0 23.1 115345 chr3 51928917 51928917 T A rs1003031981 IQCF1 Nonsynonymous SNV I203L 0 0 0.003 0 0 0 0 1 0 0 0 0 21 115346 chr3 52012000 52012000 C G rs404527 ABHD14A, ABHD14A-ACY1 Nonsynonymous SNV A13G 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 1.464 115347 chr14 75018994 75018994 G A rs137854861 LTBP2 Nonsynonymous SNV P432L 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.13 115348 chr14 79434552 79434552 A G NRXN3 Nonsynonymous SNV Y629C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 115349 chr3 52014577 52014577 A G rs144897211 ABHD14A Nonsynonymous SNV H189R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.01 115350 chr3 52020630 52020630 A G rs887540 ABHD14A-ACY1, ACY1 Nonsynonymous SNV N107S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign/Likely benign 1.529 115351 chr3 52098458 52098458 C T rs57335685 LINC00696 0 0 0.037 0 0 0 0 11 0 0 0 0 3.775 115352 chr13 42701624 42701624 T G DGKH Nonsynonymous SNV L73W 0.004 0 0 0 5 0 0 0 0 0 0 0 25.8 115353 chr3 52325051 52325051 G A rs9831689 GLYCTK Synonymous SNV A151A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 0.501 115354 chr3 52326751 52326751 C T rs9813489 GLYCTK Nonsynonymous SNV T394I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign/Likely benign 0.295 115355 chr15 45456067 45456067 G A rs764098460 DUOX1 Nonsynonymous SNV R1495H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 115356 chr3 52417594 52417594 A G rs28434358 DNAH1 Nonsynonymous SNV M2712V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 0.963 115357 chr12 49047912 49047912 C T rs143827771 KANSL2 Nonsynonymous SNV R465Q 0.009 0.016 0.02 6 11 6 0.015 6 0 0 0 0 19.19 115358 chr13 45149950 45149950 G A rs61749000 TSC22D1 Synonymous SNV L87L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.726 115359 chr13 45150286 45150286 G A rs111570577 TSC22D1-AS1 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.66 115360 chr3 52814302 52814302 C T rs139701208 ITIH1 Synonymous SNV F55F 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 14.06 115361 chr3 53226177 53226177 G A rs56338517 PRKCD Synonymous SNV A661A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.62 115362 chr3 53814151 53814151 C T rs74534595 CACNA1D Synonymous SNV T1547T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.06 115363 chr3 53844244 53844244 A G rs76868547 CACNA1D Synonymous SNV T2013T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.762 115364 chr5 118552613 118552613 A T DMXL1 Synonymous SNV G2454G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.495 115365 chr15 50901890 50901890 C T rs776466248 TRPM7 Nonsynonymous SNV S823N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12 115366 chr5 121515258 121515258 G A rs141399292 LOC100505841 Nonsynonymous SNV R16Q 0.006 0.005 0.014 1 7 2 0.003 4 0 0 0 0 11.62 115367 chr14 77844396 77844396 C T rs778319151 SAMD15 Nonsynonymous SNV T212I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.037 115368 chr14 91757343 91757343 T G rs200133047 CCDC88C Nonsynonymous SNV K1400Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 115369 chr13 49027140 49027140 A G rs3092895 RB1 Synonymous SNV L569L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.32 115370 chr14 81251592 81251592 T G rs140188619 CEP128 Nonsynonymous SNV K620Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.02 115371 chr14 93118309 93118309 C T rs767680687 RIN3 Synonymous SNV P230P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.67 115372 chr4 41749378 41749378 C T PHOX2B Synonymous SNV E139E 0 0 0 2 0 0 0.005 0 0 0 0 0 19.08 115373 chr12 55615327 55615327 C T rs112331116 OR10A7 Synonymous SNV A173A 0.007 0.003 0 4 8 1 0.01 0 0 0 0 0 11.46 115374 chr3 63805231 63805231 C G rs1020119136 C3orf49 Synonymous SNV L28L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.223 115375 chr14 88416225 88416225 G A rs3213918 GALC Synonymous SNV S411S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign/Likely benign 13.7 115376 chr4 47628448 47628448 G A rs61759683 CORIN Synonymous SNV T659T 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 4.231 115377 chr14 94546047 94546047 G C rs79048773 DDX24 Nonsynonymous SNV S14R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.024 115378 chr3 69168871 69168871 T G LMOD3 Nonsynonymous SNV K212T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.3 115379 chr13 53624297 53624297 A C rs149732767 OLFM4 Synonymous SNV T308T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 115380 chr14 91666131 91666131 C T rs28481732 DGLUCY Synonymous SNV A442A 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 11.94 115381 chr14 91666248 91666248 T C rs28715808 DGLUCY Synonymous SNV T481T 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 0.734 115382 chr14 91681784 91681784 G A rs115874122 DGLUCY Nonsynonymous SNV A534T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.03 115383 chr5 135385161 135385161 C T rs199852470 TGFBI Nonsynonymous SNV L269F 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign/Likely benign 24.4 115384 chr14 95088740 95088740 T C SERPINA3 Nonsynonymous SNV I327T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.737 115385 chr13 95363807 95363827 GCGGCGGCGGCGGCGGCGGCA - rs776049612 SOX21 A160_A166del 0.001 0 0 0 1 0 0 0 0 0 0 0 115386 chr13 96230166 96230166 C T rs141340357 CLDN10 Synonymous SNV N174N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 115387 chr15 65218311 65218311 C T ANKDD1A Nonsynonymous SNV P138L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.86 115388 chr14 94845834 94845834 C T rs796815235 SERPINA1 Synonymous SNV G344G 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 12.57 115389 chr14 94845837 94845837 G A rs760494093 SERPINA1 Synonymous SNV S343S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 8.725 115390 chr3 9862357 9862357 G C rs139669248 ARPC4-TTLL3, TTLL3 Synonymous SNV L362L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 8.804 115391 chr13 99083386 99083386 C T rs774416812 FARP1 Synonymous SNV C665C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.189 115392 chr13 99476735 99476735 C T rs762671584 DOCK9 Nonsynonymous SNV A1664T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 115393 chr15 65496606 65496606 C T rs147212329 CILP Nonsynonymous SNV E307K 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 24.3 115394 chr5 140579961 140579961 T G rs112020614 PCDHB11 Nonsynonymous SNV L205R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.316 115395 chr15 102211748 102211748 T C rs34849668 TARS3 Synonymous SNV Q636Q 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 3.975 115396 chr15 65499272 65499272 C T rs763830525 CILP Nonsynonymous SNV R91Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.78 115397 chr15 65553313 65553313 C T rs141607555 PARP16 Nonsynonymous SNV G133E 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 33 115398 chr15 22892199 22892199 G T rs570173755 CYFIP1 Nonsynonymous SNV G8V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.193 115399 chr14 100615839 100615839 G A rs765864363 DEGS2 Synonymous SNV F97F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.304 115400 chr4 100062814 100062814 C T rs61734620 ADH4 Nonsynonymous SNV C47Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.4 115401 chr4 70807778 70807778 C T rs780113661 CSN1S1 Synonymous SNV A110A 0 0 0 3 0 0 0.008 0 0 0 0 0 10.15 115402 chr12 6436940 6436940 C T rs146608432 PLEKHG6 Nonsynonymous SNV R699C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.2 115403 chr5 141243358 141243358 G C PCDH1 Synonymous SNV R467R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.111 115404 chr4 71390647 71390647 G A rs146006787 AMTN Nonsynonymous SNV G87E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.001 115405 chr5 141693948 141693948 G A rs145360326 SPRY4 Synonymous SNV S242S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.12 115406 chr15 67813792 67813792 A G rs201395244 C15orf61 Nonsynonymous SNV N69S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 115407 chr5 143587052 143587052 A G rs139113029 KCTD16 Nonsynonymous SNV I259V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.281 115408 chr15 68619091 68619091 C T rs770018932 ITGA11 Synonymous SNV P704P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.35 115409 chr14 102900956 102900956 C T rs118141823 TECPR2 Nonsynonymous SNV P601L 0.02 0.021 0.014 5 23 8 0.013 4 0 0 0 0 Benign 11.54 115410 chr14 103396993 103396993 - GCCGGG rs36040113 AMN A449_E450insGA 0.013 0.005 0.02 4 15 2 0.01 6 0 0 0 0 115411 chr4 103560962 103560962 C T rs569997475 MANBA Nonsynonymous SNV R641H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.1 115412 chr15 69714068 69714068 A G rs61751120 KIF23 Nonsynonymous SNV M34V 0.006 0.013 0.01 0 7 5 0 3 0 0 0 0 Benign 14.57 115413 chr4 104068734 104068734 T C rs750498079 CENPE Nonsynonymous SNV M1280V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 115414 chr14 104169607 104169607 A G rs779783228 XRCC3 Nonsynonymous SNV M155T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 115415 chr4 77818104 77818118 TGCAGGGTCGAATAA - rs568457238 SOWAHB H295_L299del 0 0 0 3 0 0 0.008 0 0 0 0 0 115416 chr4 107288437 107288437 A G rs527812840 GIMD1 Synonymous SNV S52S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.38 115417 chr5 148442554 148442554 C T rs558800325 SH3TC2 Nonsynonymous SNV R11Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 17.94 115418 chr15 25940058 25940058 C T rs77410940 ATP10A Nonsynonymous SNV R999H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Likely benign 24.3 115419 chr12 56075599 56075599 C T rs199581976 METTL7B Nonsynonymous SNV L21F 0.013 0.016 0.007 9 15 6 0.023 2 0 0 0 0 Benign 22.6 115420 chr15 40583034 40583034 - T PLCB2 Frameshift insertion I999Nfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 115421 chr15 31359284 31359284 T C rs200934141 TRPM1 Synonymous SNV E217E 0 0.01 0.003 3 0 4 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.317 115422 chr14 105945110 105945110 C T rs587721913 CRIP2 Nonsynonymous SNV P154L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 115423 chr12 7249388 7249388 C T rs149653325 C1RL Nonsynonymous SNV V313I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.678 115424 chr12 56994488 56994488 T C BAZ2A Nonsynonymous SNV I1527V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.031 115425 chr14 20404494 20404494 C T rs141997601 OR4K1 Synonymous SNV I223I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.747 115426 chr15 34080459 34080459 G A rs747567923 RYR3 Synonymous SNV L3210L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 10.45 115427 chr4 1210638 1210638 G A rs574444186 CTBP1-AS 0 0 0.007 0 0 0 0 2 0 0 0 0 0.884 115428 chr4 140291396 140291396 A T rs199806707 NAA15 Synonymous SNV L595L 0.019 0.013 0.01 7 22 5 0.018 3 0 0 1 0 3.404 115429 chr4 89378663 89378663 G C rs778944857 HERC5 Synonymous SNV G81G 0 0 0 2 0 0 0.005 0 0 0 0 0 6.017 115430 chr15 40573681 40573681 C T rs937462747 ANKRD63 Synonymous SNV A369A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.29 115431 chr15 42375926 42375926 C T rs776034188 PLA2G4D Nonsynonymous SNV A175T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.213 115432 chr5 158636880 158636880 G C RNF145 Nonsynonymous SNV S11C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 115433 chr15 43044852 43044852 T C rs56307230 TTBK2 Synonymous SNV E864E 0.008 0.003 0.007 5 9 1 0.013 2 0 0 0 0 Benign 0.004 115434 chr4 138452148 138452148 T G rs754513584 PCDH18 Nonsynonymous SNV E365D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 115435 chr15 43584221 43584221 C T rs368673003 TGM7 Nonsynonymous SNV G172S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 115436 chr4 140810613 140810613 G T rs199944316 MAML3 Synonymous SNV P659P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.426 115437 chr15 41828409 41828409 T A rs750197559 RPAP1 Nonsynonymous SNV D113V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 115438 chr15 41988777 41988777 C T rs751260818 MGA Synonymous SNV G523G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.25 115439 chr4 100573987 100573987 T A rs748809004 C4orf54 Nonsynonymous SNV S607C 0.008 0 0 2 9 0 0.005 0 0 0 0 0 25.6 115440 chr5 169230108 169230108 G A DOCK2 Synonymous SNV E867E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 115441 chr4 147177652 147177652 C T rs200784424 SLC10A7 Synonymous SNV P325P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 115442 chr14 21990848 21990848 G A rs780948705 SALL2 Nonsynonymous SNV T1003M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 115443 chr15 42174516 42174516 C G rs986511586 SPTBN5 Nonsynonymous SNV R733P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.48 115444 chr15 42284950 42284950 G C PLA2G4E Synonymous SNV T485T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.528 115445 chr4 159091634 159091634 T C rs142153453 GASK1B Synonymous SNV K298K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.924 115446 chr4 154624864 154624864 G C rs138270311 TLR2 Nonsynonymous SNV V269L 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 0.001 115447 chr15 42282389 42282389 G A rs757345392 PLA2G4E Synonymous SNV C505C 0.002 0 0 0 2 0 0 0 0 0 0 0 1.55 115448 chr4 110354973 110354973 C T rs72896632 SEC24B-AS1 0 0.005 0 2 0 2 0.005 0 0 1 0 1 8.346 115449 chr15 42979721 42979721 A G rs561481835 STARD9 Nonsynonymous SNV E1982G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 115450 chr15 42980665 42980665 C G rs757144254 STARD9 Nonsynonymous SNV P2297A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 115451 chr15 43621133 43621133 T C rs576883277 LCMT2 Nonsynonymous SNV M519V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.354 115452 chr4 155467291 155467291 A T rs140037203 PLRG1 Nonsynonymous SNV L121I 0.004 0 0.007 0 5 0 0 2 0 0 0 0 12.3 115453 chr4 15591284 15591284 T C rs372671421 CC2D2A Synonymous SNV C1432C 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.183 115454 chr4 159092605 159092605 A G rs17279270 FAM198B-AS1 0 0 0.031 0 0 0 0 9 0 0 1 0 0.366 115455 chr4 15964349 15964349 C A rs59591720 FGFBP2 Nonsynonymous SNV G135V 0.007 0.01 0.024 4 8 4 0.01 7 0 0 0 0 9.071 115456 chr15 48441396 48441399 TCTC - MYEF2 Stop gain R493* 0 0.003 0 0 0 1 0 0 0 0 0 0 115457 chr4 16258050 16258050 C A rs203448 TAPT1-AS1 0 0 0.085 0 0 0 0 25 0 0 0 0 7.249 115458 chr4 16258163 16258163 C T rs10027456 TAPT1-AS1 0 0 0.088 0 0 0 0 26 0 0 1 0 11.18 115459 chr4 184210748 184210748 A C WWC2 Nonsynonymous SNV D1115A 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 115460 chr15 50897205 50897205 A T rs55681028 TRPM7 Nonsynonymous SNV F949Y 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 14.25 115461 chr13 103385801 103385801 G A CCDC168 Nonsynonymous SNV A5749V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 115462 chr15 51017488 51017488 G T rs140457962 SPPL2A Synonymous SNV I393I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.88 115463 chr12 78593205 78593205 G A rs369032172 NAV3 Synonymous SNV R2181R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.7 115464 chr4 170077691 170077691 C T rs180769436 SH3RF1 Nonsynonymous SNV G178E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 115465 chr15 50226359 50226359 G C rs55687265 ATP8B4 Nonsynonymous SNV F436L 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 15.85 115466 chr15 50897263 50897263 T C rs751190106 TRPM7 Nonsynonymous SNV I930V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.144 115467 chr4 17706631 17706633 GTT - FAM184B K456_L457delinsM 0 0 0.003 0 0 0 0 1 0 0 0 0 115468 chr4 17706634 17706634 T C FAM184B Nonsynonymous SNV K456E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 115469 chr15 51860738 51860738 A G rs142324215 DMXL2 Synonymous SNV G77G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 115470 chr15 55664046 55664046 C T rs751256107 CCPG1 Synonymous SNV K217K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.41 115471 chr14 44974333 44974333 C T rs371217928 FSCB Nonsynonymous SNV A620T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 13.08 115472 chr14 50114043 50114043 A C rs149157567 POLE2 Synonymous SNV V485V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.217 115473 chr6 12296294 12296294 T C rs770606910 EDN1 Synonymous SNV H210H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 115474 chr15 68657116 68657116 C T rs201928196 ITGA11 Nonsynonymous SNV V96M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 115475 chr13 22077081 22077081 T A rs145503945 MICU2 Nonsynonymous SNV K306M 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 Likely benign 27.8 115476 chr13 22077082 22077082 T A rs145410850 MICU2 Stop gain K306X 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 Likely benign 41 115477 chr15 59497622 59497622 G C rs140447165 MYO1E Nonsynonymous SNV I531M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 23.8 115478 chr4 22341230 22341230 T C rs10938889 LOC100505912 0 0 0.041 0 0 0 0 12 0 0 4 0 6.741 115479 chr16 15851747 15851747 G A rs149630866 MYH11 Synonymous SNV I504I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 15.44 115480 chr6 24429341 24429341 T - rs573778305 GPLD1 V815Sfs*47 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 115481 chr15 64215219 64215219 C T DAPK2 Synonymous SNV K394K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.46 115482 chr15 67768050 67768050 G A rs140009311 IQCH Nonsynonymous SNV R555H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 33 115483 chr15 68118338 68118338 A G rs143149450 SKOR1 Nonsynonymous SNV N58D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26 115484 chr14 56763840 56763840 G A rs140174739 PELI2 Nonsynonymous SNV E407K 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 115485 chr16 19710890 19710890 C T rs150300279 VPS35L Nonsynonymous SNV R812C 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 35 115486 chr16 1995864 1995864 - T rs769804914 RPL3L Frameshift insertion T340Nfs*25 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 115487 chr15 75501051 75501051 G A rs969404764 C15orf39 Nonsynonymous SNV A888T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 115488 chr4 166416806 166416806 G A rs141075309 CPE Nonsynonymous SNV V437I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 115489 chr15 69729049 69729049 T C rs17310879 KIF23 Nonsynonymous SNV F405L 0.015 0.008 0.02 6 18 3 0.015 6 0 0 0 0 14.03 115490 chr5 13922252 13922252 G A rs139640247 DNAH5 Synonymous SNV N208N 0.007 0.013 0.007 1 8 5 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.34 115491 chr4 169167724 169167724 C T rs371710589 DDX60 Nonsynonymous SNV V1337I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 115492 chr16 2029160 2029160 T C NOXO1 Nonsynonymous SNV S341G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.59 115493 chr15 77406702 77406702 G A rs180909441 PEAK1 Synonymous SNV T1679T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.151 115494 chr4 169176885 169176885 T C rs371268059 DDX60 Synonymous SNV K1178K 0 0 0 1 0 0 0.003 0 0 0 0 0 4.487 115495 chr4 169348307 169348307 C G rs141625924 DDX60L Nonsynonymous SNV C615S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 115496 chr15 69737350 69737350 C T rs35621443 KIF23 Synonymous SNV S763S 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 15.89 115497 chr16 2079594 2079594 G A rs372997546 SLC9A3R2 Synonymous SNV R75R 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 9.335 115498 chr16 21122946 21122946 C T rs373369945 DNAH3 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24.5 115499 chr15 81180069 81180069 C T rs138423783 CEMIP Nonsynonymous SNV P278S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 21.9 115500 chr4 39308301 39308301 C T rs147227437 RFC1 Nonsynonymous SNV G610S 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 115501 chr16 2142113 2142113 G A rs145955373 PKD1 Synonymous SNV D3781D 0.011 0.01 0.027 2 13 4 0.005 8 0 0 0 0 Benign 8.793 115502 chr16 2230317 2230317 G A rs752506547 CASKIN1 Nonsynonymous SNV R1018W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.2 115503 chr15 75932030 75932030 C T IMP3 Stop gain W160X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 42 115504 chr16 2258303 2258303 C T rs201167309 MLST8 Synonymous SNV Y156Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.63 115505 chr15 76019481 76019481 C T rs761648132 ODF3L1 Nonsynonymous SNV T142M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 115506 chr13 46161250 46161250 C T ERICH6B Synonymous SNV L268L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.661 115507 chr5 37063967 37063967 C T NIPBL Nonsynonymous SNV R2646W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 115508 chr16 23391418 23391418 G T SCNN1B Nonsynonymous SNV K490N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.94 115509 chr16 24583566 24583568 AAG - rs766796429 RBBP6 K1699del 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 115510 chr13 20763243 20763243 C T rs34988750 GJB2 Nonsynonymous SNV G160S 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 115511 chr16 25180463 25180463 A G LCMT1 Nonsynonymous SNV M186V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.7 115512 chr4 48578163 48578163 T C rs767491166 FRYL Nonsynonymous SNV I869V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.304 115513 chr4 54852694 54852718 TTTTATTTTATTTTATTTTATTTTA - rs149656971 RPL21P44 0 0 0.02 0 0 0 0 6 0 0 3 0 115514 chr16 27556662 27556662 C T rs766272312 GTF3C1 Nonsynonymous SNV R135H 0.013 0.003 0 1 15 1 0.003 0 1 0 0 0 16.05 115515 chr15 86124395 86124395 C T rs776902577 AKAP13 Synonymous SNV A1032A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 115516 chr15 79606248 79606248 T C rs749485422 TMED3 Synonymous SNV F106F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.05 115517 chr6 36698471 36698471 G A rs143649111 RAB44 Nonsynonymous SNV E974K 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 26.6 115518 chr15 89195337 89195337 C A rs369756732 ISG20 Synonymous SNV G64G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 115519 chr15 81650760 81650760 T C rs200945164 TMC3 Nonsynonymous SNV T195A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 26.6 115520 chr4 5830234 5830234 G T rs143852988 CRMP1 Synonymous SNV R595R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 115521 chr4 5961338 5961338 C T rs7695618 C4orf50 Nonsynonymous SNV V1252M 0.009 0 0.024 4 10 0 0.01 7 0 0 1 0 12.7 115522 chr16 30012094 30012094 C T INO80E Nonsynonymous SNV A74V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 115523 chr6 37186693 37186693 C T rs34322528 TMEM217 Synonymous SNV G38G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 7.662 115524 chr4 5991346 5991346 G A rs181208682 C4orf50 Synonymous SNV D630D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.981 115525 chr14 75376488 75376488 C T rs375023229 RPS6KL1 Nonsynonymous SNV R343Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.087 115526 chr16 30680526 30680537 GCTGCCGCTGCT - rs758950937 FBRS A846_A849del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 115527 chr16 30723229 30723229 A G rs527648472 SRCAP Synonymous SNV A522A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 2.178 115528 chr16 30964934 30964934 G A rs146608802 ORAI3 Synonymous SNV P219P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.168 115529 chr4 6718502 6718502 C T rs143883327 BLOC1S4 Nonsynonymous SNV S189L 0.01 0.01 0.007 7 12 4 0.018 2 0 0 0 0 13.86 115530 chr13 33686896 33686896 G A rs140229282 STARD13 Synonymous SNV L700L 0.004 0 0 0 5 0 0 0 0 0 0 0 9.865 115531 chr16 31284718 31284718 G A rs199671976 ITGAM Nonsynonymous SNV R246Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.5 115532 chr4 70460320 70460320 C T rs150848863 UGT2A1, UGT2A2 Nonsynonymous SNV M358I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 24.2 115533 chr15 89395059 89395059 G A rs763114699 ACAN Synonymous SNV E687E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.04 115534 chr16 3187427 3187427 G A rs200158720 ZNF213 Nonsynonymous SNV R49Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 115535 chr13 39621888 39621888 T A rs145374636 NHLRC3 Nonsynonymous SNV V223E 0.003 0 0 0 4 0 0 0 0 0 0 0 14.79 115536 chr4 71508869 71508869 T C rs2609428 ENAM Nonsynonymous SNV F358L 0.011 0.003 0.014 9 13 1 0.023 4 0 0 0 0 Likely benign 12.25 115537 chr13 39621923 39621923 A C rs145181998 NHLRC3 Nonsynonymous SNV I235L 0.003 0 0 0 4 0 0 0 0 0 0 0 18.95 115538 chr16 3613911 3613911 A C rs200587396 NLRC3 Nonsynonymous SNV W343G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 115539 chr5 32126719 32126719 A G rs61751182 GOLPH3 Synonymous SNV L166L 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.658 115540 chr16 10729742 10729742 - G TEKT5 Frameshift insertion I374Hfs*100 0.001 0 0 0 1 0 0 0 0 0 0 0 115541 chr5 32403303 32403303 G A rs139021032 ZFR Nonsynonymous SNV S475L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 115542 chr6 46766869 46766869 A T rs147005596 MEP1A Synonymous SNV P71P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.011 115543 chr4 80929714 80929714 G A rs374107789 ANTXR2 Synonymous SNV I334I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 115544 chr16 10788700 10788700 T C rs117824981 TEKT5 Nonsynonymous SNV S11G 0.005 0 0 0 6 0 0 0 0 0 0 0 21.1 115545 chr5 79366140 79366140 T C THBS4 Synonymous SNV G362G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.273 115546 chr13 52971796 52971796 G C rs186046951 THSD1 Nonsynonymous SNV Q198E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.132 115547 chr5 80369245 80369245 C T rs144640656 RASGRF2 Synonymous SNV D287D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 115548 chr14 20841478 20841478 G A rs150130034 TEP1 Synonymous SNV T2147T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.2 115549 chr16 10855281 10855281 A G rs770765119 NUBP1 Nonsynonymous SNV I212V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.368 115550 chr5 82837660 82837660 G T VCAN Nonsynonymous SNV K1959N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.66 115551 chr14 20871920 20871920 G A rs201304686 TEP1 Nonsynonymous SNV R386W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 115552 chr4 8603181 8603181 G A rs921760286 CPZ Synonymous SNV T140T 0 0 0.007 0 0 0 0 2 0 0 0 0 5.585 115553 chr4 8605845 8605845 C T rs115804488 CPZ Synonymous SNV I202I 0.02 0.023 0.024 3 23 9 0.008 7 0 0 0 0 19.73 115554 chr16 15808886 15808886 G A rs369950711 MYH11 Nonsynonymous SNV A1889V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 115555 chr6 54002927 54002927 C T rs189283129 MLIP Nonsynonymous SNV T676I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.283 115556 chr4 88536902 88536919 AGCAGTGACAGCAGCGAT - rs773557330 DSPP D1050_S1055del 0 0 0.007 0 0 0 0 2 0 0 1 0 115557 chr4 8873085 8873141 GCGCACGGGCCCGCGCCTCCCCGCCGGGCCCGGTGCCCGCGAGCAACTGTCGCCGCC - HMX1 R67_A85del 0 0 0.003 0 0 0 0 1 0 0 0 0 115558 chr6 57012673 57012673 C T rs149876604 ZNF451 Nonsynonymous SNV P597L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.008 115559 chr16 57292411 57292411 C T rs770097612 PLLP Nonsynonymous SNV R132K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.32 115560 chr5 54558510 54558510 G A rs147947389 DHX29 Nonsynonymous SNV S1208F 0 0 0 4 0 0 0.01 0 0 0 0 0 27.1 115561 chr14 21547108 21547108 G A rs761052679 ARHGEF40 Nonsynonymous SNV R57H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 115562 chr16 2029312 2029312 A C rs200862661 NOXO1 Nonsynonymous SNV L290R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 115563 chr16 2029313 2029313 G C rs202024453 NOXO1 Nonsynonymous SNV L290V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 115564 chr16 15715636 15715636 C G rs35438466 MARF1 Nonsynonymous SNV V865L 0.008 0.018 0.017 1 9 7 0.003 5 0 0 0 0 26.5 115565 chr15 34553130 34553130 A G rs145186782 SLC12A6 Synonymous SNV F121F 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 Benign/Likely benign 8.69 115566 chr15 34635241 34635241 C G rs146261631 NOP10 Nonsynonymous SNV D12H 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 Benign/Likely benign 30 115567 chr5 66459922 66459922 G A MAST4 Nonsynonymous SNV A1378T 0 0 0 3 0 0 0.008 0 0 0 0 0 8.447 115568 chr5 110074846 110074846 T C SLC25A46 Nonsynonymous SNV F9S 0 0 0.003 0 0 0 0 1 0 0 0 0 30 115569 chr16 2083365 2083365 G A rs575900421 SLC9A3R2 Nonsynonymous SNV G5R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.687 115570 chr16 1634241 1634241 T C rs139619013 IFT140 Nonsynonymous SNV I446V 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 Benign/Likely benign 0.001 115571 chr16 67304928 67304928 C T SLC9A5 Nonsynonymous SNV R735C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 115572 chr5 111575361 111575361 A G EPB41L4A Nonsynonymous SNV Y321H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 115573 chr16 1706275 1706275 C T rs200270407 CRAMP1 Nonsynonymous SNV P506L 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 11.62 115574 chr16 2144182 2144182 G A rs45478794 PKD1 Nonsynonymous SNV T3509M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 6.235 115575 chr16 21969890 21969890 G A rs908799986 UQCRC2 Nonsynonymous SNV R101H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 115576 chr16 2213943 2213943 C T rs772309846 TRAF7 Nonsynonymous SNV R8C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 115577 chr14 23792215 23792215 G A rs2295126 BCL2L2-PABPN1, PABPN1 Synonymous SNV P30P 0.02 0.021 0.031 8 23 8 0.021 9 0 0 0 0 14.86 115578 chr16 1841388 1841388 G C rs775129479 IGFALS Nonsynonymous SNV T382R 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 1.727 115579 chr15 40660548 40660548 C T rs200298254 DISP2 Synonymous SNV P745P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.917 115580 chr16 2231025 2231025 T C rs183093419 CASKIN1 Nonsynonymous SNV K782E 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 17.19 115581 chr16 19711717 19711717 C T rs61738005 VPS35L Synonymous SNV Y844Y 0.014 0.013 0.007 7 16 5 0.018 2 0 0 0 0 11.76 115582 chr16 2034455 2034455 C A rs773323504 GFER Nonsynonymous SNV T79K 0 0.008 0 1 0 3 0.003 0 0 0 0 0 23 115583 chr6 97561784 97561784 C T rs147162226 KLHL32 Nonsynonymous SNV P278S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.648 115584 chr5 126790280 126790280 C T rs35159176 MEGF10 Synonymous SNV S1001S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.58 115585 chr15 42115694 42115694 T A MAPKBP1 Synonymous SNV S1216S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 115586 chr16 27374647 27374647 C T IL4R Synonymous SNV D658D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.58 115587 chr5 127419931 127419931 - GCG SLC12A2 A107_G108insA 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 115588 chr16 2814369 2814369 G A rs144705999 SRRM2 Synonymous SNV V1280V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.028 115589 chr16 2327637 2327637 G A rs142584479 ABCA3 Synonymous SNV V1648V 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 Likely benign 11.65 115590 chr5 134056768 134056768 T C rs571521973 SEC24A Synonymous SNV I1017I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.924 115591 chr14 31852790 31852790 A G rs17661360 HEATR5A Synonymous SNV A511A 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 5.054 115592 chr16 28916733 28916733 C G rs368888004 RABEP2 Synonymous SNV L531L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.82 115593 chr5 135651609 135651609 A C rs13165205 TRPC7-AS2 0 0 0.017 0 0 0 0 5 0 0 2 0 0.629 115594 chr5 13716625 13716625 T C rs765649176 DNAH5 Nonsynonymous SNV T4294A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Uncertain significance 23.5 115595 chr6 110300640 110300640 G C rs370705266 GPR6 Nonsynonymous SNV V109L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 115596 chr16 2983951 2983951 G A rs964028423 FLYWCH1 Nonsynonymous SNV R495H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.576 115597 chr5 137626403 137626403 A G rs115715008 CDC25C Synonymous SNV S190S 0 0 0.007 0 0 0 0 2 0 0 0 0 2.918 115598 chr5 137272009 137272009 A G PKD2L2 Synonymous SNV E494E 0.003 0 0 0 4 0 0 0 0 0 0 0 12.83 115599 chr5 138715419 138715419 A G rs116375935 SLC23A1 Synonymous SNV D291D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.62 115600 chr5 138858034 138858034 C A rs114834699 TMEM173 Nonsynonymous SNV V75L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.945 115601 chr5 138860779 138860779 G T rs142609349 TMEM173 Nonsynonymous SNV L7I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.647 115602 chr16 31195693 31195698 GGTGGA - rs762260286 FUS G173_G174del 0.004 0.005 0 0 5 2 0 0 0 0 0 0 115603 chr15 48782235 48782235 C T rs140591 FBN1 Synonymous SNV E965E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 15.14 115604 chr16 3632347 3632347 T C rs111738042 SLX4 Nonsynonymous SNV N1834S 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Benign/Likely benign 0.043 115605 chr16 427387 427387 G A rs773149207 PGAP6 Synonymous SNV I166I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.329 115606 chr5 102611934 102611934 G A rs144822898 C5orf30 Nonsynonymous SNV R105H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 34 115607 chr16 4626019 4626019 G T rs369055443 C16orf96 Nonsynonymous SNV G513V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 115608 chr16 4643250 4643250 C T C16orf96 Nonsynonymous SNV H934Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.864 115609 chr6 137540423 137540423 C T rs17181471 IFNGR1 Synonymous SNV V14V 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Benign/Likely benign 11.87 115610 chr16 47703150 47703152 GAA - rs532057230 PHKB E820del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 115611 chr16 84494460 84494460 C A rs143696437 ATP2C2-AS1 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 5.436 115612 chr6 139206896 139206896 G C rs373179156 ECT2L Nonsynonymous SNV E730Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.37 115613 chr5 140725033 140725033 A T rs200604016 PCDHGA3 Nonsynonymous SNV D478V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25 115614 chr14 35222853 35222853 C T rs200937141 BAZ1A Nonsynonymous SNV R1479H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 115615 chr16 85712168 85712168 C G rs767344545 GINS2 Nonsynonymous SNV R137T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.78 115616 chr16 50745656 50745656 G A rs104895438 NOD2 Nonsynonymous SNV A585T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.6 115617 chr14 64457148 64457148 C G rs186652746 SYNE2 Nonsynonymous SNV S778C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 115618 chr14 50088595 50088595 T C rs147375948 MGAT2 Synonymous SNV N203N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.68 115619 chr16 55880716 55880716 T C rs111931792 CES5A Nonsynonymous SNV K437R 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 0.012 115620 chr5 149633071 149633071 G A rs373461784 CAMK2A Synonymous SNV A150A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 115621 chr16 88778573 88778573 C T rs554554282 CTU2 Nonsynonymous SNV R150C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.225 115622 chr5 133328003 133328003 A G rs142141751 VDAC1 Synonymous SNV N37N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.791 115623 chr14 69619488 69619488 C T DCAF5 Nonsynonymous SNV V70I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 115624 chr16 8905010 8905010 G A rs28936415 PMM2 Nonsynonymous SNV R141H 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Pathogenic 34 115625 chr16 61747748 61747748 C G rs141559070 CDH8 Nonsynonymous SNV E551Q 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 2.045 115626 chr16 58021324 58021324 G A rs748529174 TEPP Stop gain W297X 0.003 0 0 2 3 0 0.005 0 0 0 0 0 42 115627 chr16 58288020 58288020 G A rs200330631 CCDC113 Nonsynonymous SNV R116Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.474 115628 chr16 89254587 89254587 C A CDH15 Nonsynonymous SNV S291Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 115629 chr15 74917297 74917297 G A CLK3 Synonymous SNV E344E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 115630 chr6 155109072 155109072 A G SCAF8 Synonymous SNV Q79Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.988 115631 chr5 151043728 151043728 C T rs142717464 SPARC Nonsynonymous SNV R267H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 115632 chr5 153726769 153726769 A G rs13186787 MIR1294 0 0 0.017 0 0 0 0 5 0 0 0 0 0.147 115633 chr5 139193172 139193172 A G rs147846300 PSD2 Nonsynonymous SNV E217G 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 115634 chr5 154296632 154296632 G C rs142530738 GEMIN5 Nonsynonymous SNV P593R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 115635 chr15 75949339 75949339 G C rs140843780 SNX33 Nonsynonymous SNV S503T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24 115636 chr16 68266394 68266394 T C rs769234077 ESRP2 Synonymous SNV A288A 0.008 0.005 0 0 9 2 0 0 0 0 0 0 0.044 115637 chr14 74971699 74971699 C T rs137854865 LTBP2 Synonymous SNV P1452P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.15 115638 chr15 77425502 77425502 G A rs187852199 PEAK1 Nonsynonymous SNV L1308F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 115639 chr5 156482296 156482296 C G rs56084311 HAVCR1 Nonsynonymous SNV D99H 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 25.2 115640 chr16 70287644 70287644 C T rs145581652 AARS Synonymous SNV L860L 0.012 0.005 0.01 0 14 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 14.7 115641 chr16 67208257 67208257 T C rs201067296 NOL3 Nonsynonymous SNV L62P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 28.5 115642 chr5 159855640 159855640 G C PTTG1 Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 115643 chr5 159437759 159437759 G A TTC1 Nonsynonymous SNV G75E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.695 115644 chr14 62536368 62536368 G C rs377603932 SYT16 Nonsynonymous SNV D81H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 115645 chr5 159822277 159822277 T C ZBED8 Nonsynonymous SNV D74G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.21 115646 chr16 66919269 66919269 G A rs143366155 PDP2 Nonsynonymous SNV R361H 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 15.42 115647 chr16 67840992 67840992 G T rs971253259 TSNAXIP1 Nonsynonymous SNV G4C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 115648 chr16 67189346 67189346 G A rs372931256 TRADD Synonymous SNV G121G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 16.08 115649 chr15 80743286 80743286 G C rs372933117 ARNT2 Nonsynonymous SNV V33L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 115650 chr16 67942865 67942865 G A rs146109328 PSKH1 Synonymous SNV T71T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.635 115651 chr5 16673800 16673800 G A rs3188408 MYO10 Synonymous SNV T1721T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 12.01 115652 chr5 16682062 16682062 C T rs16868979 MYO10 Synonymous SNV P1369P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 18.6 115653 chr16 68894100 68894100 A G rs201816789 TANGO6 Synonymous SNV A136A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 7.008 115654 chr16 77323210 77323210 C T rs3743750 ADAMTS18 Synonymous SNV P995P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 17.09 115655 chr16 70287823 70287823 C A AARS1 Nonsynonymous SNV R840L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 115656 chr17 1554751 1554751 T C PRPF8 Nonsynonymous SNV N2203D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 115657 chr5 172096837 172096837 C A NEURL1B Synonymous SNV P27P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 115658 chr5 172385478 172385478 G A rs1015482072 LOC100268168 0 0 0.007 0 0 0 0 2 0 0 0 0 10.89 115659 chr5 172660004 172660004 C T rs72554028 NKX2-5 Synonymous SNV Q181Q 0.023 0.013 0.02 12 27 5 0.031 6 0 0 0 1 Benign/Likely benign 10.17 115660 chr5 176395698 176395698 A G rs143282828 UIMC1 Nonsynonymous SNV M353T 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 0.004 115661 chr15 86312409 86312409 G A rs372965285 KLHL25 Synonymous SNV F211F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.037 115662 chr16 72159302 72159302 G A rs35278932 PMFBP1 Synonymous SNV L752L 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 4.468 115663 chr6 170059557 170059557 G A rs201925852 WDR27 Nonsynonymous SNV A205V 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 0.017 115664 chr17 18029678 18029678 C T rs148723625 MYO15A Synonymous SNV I1258I 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.76 115665 chr5 148748145 148748145 C T PCYOX1L Synonymous SNV Y454Y 0 0 0 2 0 0 0.005 0 0 0 0 0 7.374 115666 chr14 92349405 92349405 C G rs370182440 FBLN5 Nonsynonymous SNV S252T 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 25.4 115667 chr7 912860 912860 C T rs61741990 SUN1 Stop gain R753X 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.8 115668 chr7 1525067 1525067 G A rs750499152 INTS1 Synonymous SNV D1005D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.311 115669 chr15 89860686 89860686 G A rs146584956 POLG Synonymous SNV C1188C 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11 115670 chr16 721886 721886 G A rs777476141 RHOT2 Synonymous SNV V276V 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 6.333 115671 chr5 179688714 179688714 T C rs375640923 MAPK9 Synonymous SNV K140K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.552 115672 chr5 179734238 179734238 G C rs367587220 GFPT2 Nonsynonymous SNV Q538E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.893 115673 chr5 180335813 180335813 G A rs144634509 BTNL8 Nonsynonymous SNV A93T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.843 115674 chr14 77900613 77900613 T C rs201857750 VIPAS39 Nonsynonymous SNV T312A 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.5 115675 chr14 77942006 77942006 G A ISM2 Stop gain R550X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 115676 chr5 180661449 180661449 G A rs755970444 TRIM41 Nonsynonymous SNV G523R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 115677 chr15 90344355 90344355 C T ANPEP Synonymous SNV L602L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.152 115678 chr7 5427517 5427517 G A rs34693947 TNRC18 Synonymous SNV G646G 0.023 0.034 0.037 11 27 13 0.028 11 0 0 0 0 2.514 115679 chr14 78235999 78235999 G C rs200058153 C14orf178 0.003 0 0 0 3 0 0 0 0 0 0 0 21.5 115680 chr16 84914177 84914177 A G rs139975503 CRISPLD2 Nonsynonymous SNV N431S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.8 115681 chr14 95942124 95942124 C A rs766885763 SYNE3 Nonsynonymous SNV S12I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 33 115682 chr14 96552900 96552900 C - C14orf132 E28Sfs*39 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 115683 chr16 85712257 85712257 G A rs561812892 GINS2 Synonymous SNV I107I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.65 115684 chr17 21318837 21318837 C T rs61514986 KCNJ12, KCNJ18 Synonymous SNV D61D 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 12.92 115685 chr16 84270817 84270817 C T rs148537883 KCNG4 Nonsynonymous SNV R92Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 20.6 115686 chr15 94927303 94927303 G A rs367649982 MCTP2 Synonymous SNV T133T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.09 115687 chr16 86601532 86601532 C T rs530313870 FOXC2 Synonymous SNV T197T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.881 115688 chr15 99511811 99511811 A G rs747460829 PGPEP1L Synonymous SNV L163L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.968 115689 chr6 7580528 7580528 G A rs141805096 DSP Nonsynonymous SNV E1369K 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Uncertain significance 29.6 115690 chr5 36253860 36253860 G A rs145731182 RANBP3L Synonymous SNV I328I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.29 115691 chr5 36985885 36985885 G A rs149629686 NIPBL Nonsynonymous SNV R868Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 22 115692 chr5 39316096 39316096 G A rs141625765 C9 Synonymous SNV Y217Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.275 115693 chr16 11374994 11374994 C A rs35576928 PRM1 Nonsynonymous SNV R34S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.77 115694 chr5 40841512 40841512 A G rs34539085 CARD6 Nonsynonymous SNV I10V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.099 115695 chr17 27948316 27948316 C T rs757279068 CORO6 Nonsynonymous SNV V42I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 31 115696 chr16 88802815 88802875 ACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCAC - PIEZO1 V433Mfs*58 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 115697 chr5 40998741 40998741 A G rs61745467 MROH2B Synonymous SNV L1542L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.323 115698 chr5 170626696 170626696 - AA rs760934122 RANBP17 Frameshift insertion N688Kfs*27 0 0 0 2 0 0 0.005 0 0 0 0 0 115699 chr14 95569855 95569855 T C rs772855134 DICER1 Nonsynonymous SNV N1293S 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 13.75 115700 chr7 21751342 21751342 G A rs372264255 DNAH11 Nonsynonymous SNV A2283T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 115701 chr15 33022901 33022901 A G rs776296145 GREM1 Nonsynonymous SNV T4A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.415 115702 chr7 22767163 22767163 C T rs929715560 IL6 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 115703 chr17 3119813 3119813 G A rs776555381 OR1A1 Nonsynonymous SNV R300Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.669 115704 chr16 87678237 87678237 C T rs148709536 JPH3 Synonymous SNV T252T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 13.13 115705 chr6 28228087 28228087 A G rs756256064 NKAPL Nonsynonymous SNV K313R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.7 115706 chr16 89264709 89264709 C T rs565200064 SLC22A31 Nonsynonymous SNV R230H 0.015 0.003 0 1 18 1 0.003 0 0 0 0 0 12.97 115707 chr16 88594622 88594622 A C rs149880406 ZFPM1 Nonsynonymous SNV I230L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 25.7 115708 chr16 89351870 89351870 C T rs144902113 ANKRD11 Synonymous SNV P360P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.999 115709 chr5 65350583 65350583 G A rs779900837 ERBIN Nonsynonymous SNV R1146Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 115710 chr16 20384428 20384428 C A rs141043720 PDILT Nonsynonymous SNV R233L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 18.97 115711 chr15 34077949 34077949 G A rs200830195 RYR3 Nonsynonymous SNV E3119K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 24.6 115712 chr17 1552876 1552876 C G rs780241616 RILP Nonsynonymous SNV D75H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 115713 chr17 3819390 3819390 C T P2RX1 Nonsynonymous SNV V44I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.69 115714 chr5 74387136 74387136 C G ANKRD31 Nonsynonymous SNV D1751H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 115715 chr17 1382987 1382987 T A rs779849945 MYO1C Nonsynonymous SNV I307F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 115716 chr17 16843666 16843666 C T rs104894649 TNFRSF13B Nonsynonymous SNV R202H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 115717 chr15 40558117 40558117 A G rs777003260 BUB1B-PAK6, PAK6 Synonymous SNV S93S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.019 115718 chr17 17106148 17106148 G A rs145591247 PLD6 Nonsynonymous SNV S231F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.029 115719 chr15 43499436 43499436 G A rs45594632 EPB42 Nonsynonymous SNV R457C 0.015 0.021 0 8 18 8 0.021 0 0 1 0 0 Conflicting interpretations of pathogenicity 24.2 115720 chr16 23079872 23079872 C A rs137891895 USP31 Nonsynonymous SNV R1185L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.9 115721 chr15 43621136 43621136 T C rs45530831 LCMT2 Nonsynonymous SNV T518A 0.015 0.021 0 8 18 8 0.021 0 0 1 0 0 0.002 115722 chr15 40947116 40947116 C T rs202196865 KNL1 Nonsynonymous SNV P2142L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.75 115723 chr6 11190416 11190416 G A NEDD9 Synonymous SNV G413G 0 0 0 3 0 0 0.008 0 0 0 0 0 0.755 115724 chr17 18891674 18891674 C T rs143682625 FAM83G Synonymous SNV L192L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.96 115725 chr15 45490988 45490988 G C rs201576115 SHF Nonsynonymous SNV D95E 0.005 0.003 0.014 2 6 1 0.005 4 0 0 0 0 16.62 115726 chr15 42145608 42145608 C T rs200316020 SPTBN5 Nonsynonymous SNV E3340K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 115727 chr6 13802496 13802496 A T MCUR1 Nonsynonymous SNV D206E 0 0 0 3 0 0 0.008 0 0 0 0 0 23 115728 chr7 50514030 50514030 G A rs148147256 FIGNL1 Nonsynonymous SNV S319F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.55 115729 chr17 1381398 1381398 C T rs541831167 MYO1C Nonsynonymous SNV E462K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 115730 chr15 49800464 49800464 G T rs770465182 FAM227B Nonsynonymous SNV A285E 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.001 115731 chr17 15341239 15341239 C T rs146969230 CDRT4 Nonsynonymous SNV A104T 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 0.001 115732 chr6 46657977 46657979 AGA - rs144670071 TDRD6 E705del 0.009 0.003 0.02 2 10 1 0.005 6 0 0 0 0 115733 chr17 19266027 19266027 T C rs754000567 B9D1 Nonsynonymous SNV H3R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.344 115734 chr15 52668708 52668708 G A rs200144796 MYO5A Synonymous SNV A752A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.21 115735 chr5 90136800 90136800 A G rs41303350 ADGRV1 Nonsynonymous SNV K5673E 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 Benign/Likely benign 12.82 115736 chr6 24865659 24865659 G C rs11967003 RIPOR2 Nonsynonymous SNV A174G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign 22.2 115737 chr16 31096115 31096115 G A rs373736818 PRSS53 Nonsynonymous SNV A422V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.074 115738 chr6 27925389 27925389 T G rs764560715 OR2B6 Nonsynonymous SNV V124G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 115739 chr5 98129109 98129109 C T rs61746616 RGMB Synonymous SNV I322I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.57 115740 chr17 18149308 18149308 G A rs11540886 FLII Synonymous SNV D1057D 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Likely benign 9.556 115741 chr17 18181601 18181601 C T rs147447113 TOP3A Nonsynonymous SNV G644R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 115742 chr6 10415101 10415101 A G rs568678263 TFAP2A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 115743 chr17 27959618 27959618 A G rs374028850 SSH2 Nonsynonymous SNV L838S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.8 115744 chr15 52659252 52659252 C T rs56132571 MYO5A Nonsynonymous SNV V1046M 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Uncertain significance 20.8 115745 chr6 109803191 109803191 A T ZBTB24 Synonymous SNV V13V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 115746 chr17 42266525 42266525 C T rs150570603 TMUB2 Synonymous SNV Y37Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.19 115747 chr15 53081983 53081983 G T rs202151356 ONECUT1 Nonsynonymous SNV H33Q 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 23.5 115748 chr16 476096 476096 A G rs1883371 RAB11FIP3 Synonymous SNV A30A 0.009 0 0.007 2 10 0 0.005 2 5 0 1 1 Likely benign 0.196 115749 chr6 111694771 111694771 G A rs763645159 REV3L Nonsynonymous SNV P1596L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.77 115750 chr6 75970541 75970541 A G rs376386195 TMEM30A Synonymous SNV N144N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.45 115751 chr7 93090133 93090133 C T rs10269878 CALCR Synonymous SNV P216P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.09 115752 chr17 43339481 43339481 G C rs138140696 MAP3K14-AS1 0.005 0.005 0.014 2 6 2 0.005 4 0 0 0 0 5.662 115753 chr17 4451453 4451453 C T rs56716962 MYBBP1A Nonsynonymous SNV R570H 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 24.7 115754 chr16 55880411 55880411 T G rs141258202 CES5A Nonsynonymous SNV L510F 0.003 0 0 0 3 0 0 0 0 0 0 0 14.14 115755 chr17 35800663 35800663 T C rs576548532 TADA2A Synonymous SNV Y114Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.452 115756 chr17 27044565 27044565 T C rs571207921 RAB34 Synonymous SNV Q54Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 7.83 115757 chr15 64686301 64686301 C T rs150827497 TRIP4 Synonymous SNV C86C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.57 115758 chr15 65140800 65140800 G A rs143420220 PLEKHO2 Synonymous SNV K7K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.403 115759 chr17 30214295 30214295 C T UTP6 Nonsynonymous SNV R194K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 25.1 115760 chr17 47866205 47866205 A C rs138591805 KAT7 Synonymous SNV R3R 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 0.578 115761 chr17 33348415 33348415 G T rs138499621 RFFL Nonsynonymous SNV P189Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 0.006 115762 chr15 79586212 79586212 C T rs143968951 ANKRD34C Synonymous SNV L196L 0.009 0 0 4 10 0 0.01 0 0 0 0 0 0.191 115763 chr16 66946591 66946591 T C rs202247581 CDH16 Nonsynonymous SNV M323V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 115764 chr16 67207797 67207797 A G rs774816240 NOL3 Nonsynonymous SNV E9G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.86 115765 chr17 34072011 34072011 T C rs782584164 GAS2L2 Synonymous SNV V835V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.032 115766 chr17 53045971 53045971 G A COX11 Nonsynonymous SNV P13S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.439 115767 chr16 67913573 67913573 G A rs777013135 EDC4 Nonsynonymous SNV V573M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 115768 chr6 151153245 151153245 G A rs772931290 PLEKHG1 Nonsynonymous SNV E961K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.6 115769 chr17 36091635 36091635 G A rs769939869 HNF1B Synonymous SNV H332H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 115770 chr6 121544434 121544434 T A rs187705659 TBC1D32 Nonsynonymous SNV D810V 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 22.4 115771 chr17 37370522 37370522 T C rs79968874 STAC2 Nonsynonymous SNV K160R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.3 115772 chr17 55184469 55184469 G A rs11658676 AKAP1 Synonymous SNV L548L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 11.35 115773 chr6 153296052 153296052 C A rs148657499 FBXO5 Nonsynonymous SNV D224Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 115774 chr17 38121958 38121958 T C rs994591687 GSDMA Synonymous SNV N6N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.063 115775 chr6 128150867 128150867 C T THEMIS Nonsynonymous SNV A155T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.194 115776 chr17 38609242 38609242 G T rs779952107 IGFBP4 Nonsynonymous SNV D119Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 115777 chr17 39674590 39674590 G A rs142682445 KRT15 Nonsynonymous SNV R164W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 115778 chr6 57012323 57012323 C T rs922191279 ZNF451 Synonymous SNV F480F 0 0 0 2 0 0 0.005 0 0 0 0 0 11.58 115779 chr17 38935821 38935821 T C rs749080763 KRT27 Nonsynonymous SNV N302S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.839 115780 chr16 727003 727003 C G rs138481074 RHBDL1 Synonymous SNV L78L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.036 115781 chr6 158994536 158994536 C A rs6926561 TMEM181 Synonymous SNV T168T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.41 115782 chr6 159086478 159086478 G A rs140305892 SYTL3 Synonymous SNV T54T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.708 115783 chr6 159181724 159181724 G A rs759332655 SYTL3 Nonsynonymous SNV R248Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24 115784 chr16 75446510 75446510 T C rs763357455 CFDP1 Nonsynonymous SNV K109E 0.003 0 0 0 3 0 0 0 0 0 0 0 19.19 115785 chr16 75634192 75634192 C T rs75248264 ADAT1 Synonymous SNV Q308Q 0.003 0 0 0 3 0 0 0 0 0 0 0 14.56 115786 chr7 100807646 100807646 G A rs749070087 VGF Nonsynonymous SNV A160V 0.003 0 0 0 4 0 0 0 0 0 0 0 26.5 115787 chr17 40715086 40715086 C T COASY Nonsynonymous SNV S149L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 115788 chr7 102106700 102106700 C T rs77479583 LRWD1 Nonsynonymous SNV R139W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 115789 chr15 91295033 91295033 G T BLM Nonsynonymous SNV K272N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 115790 chr6 78471367 78471367 C T rs745523785 MEI4 Synonymous SNV N251N 0 0 0 2 0 0 0.005 0 0 0 0 0 2.305 115791 chr16 81069751 81069751 C G rs150799758 ATMIN Synonymous SNV G92G 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 12.93 115792 chr6 161469920 161469920 A G rs148565000 MAP3K4 Nonsynonymous SNV I206V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.61 115793 chr6 165711527 165711527 C T rs202037689 C6orf118 Nonsynonymous SNV A334T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 115794 chr17 42853017 42853017 C T rs371943218 ADAM11 Synonymous SNV S286S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 115795 chr7 117149147 117149147 G A rs1800076 CFTR Nonsynonymous SNV R75Q 0.012 0.003 0.003 1 14 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 115796 chr16 10788550 10788550 C T rs138126929 TEKT5 Nonsynonymous SNV V61I 0.009 0.016 0.01 0 10 6 0 3 0 0 0 0 0.056 115797 chr17 4462245 4462245 G A rs750686454 GGT6 Synonymous SNV L151L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.513 115798 chr16 10996039 10996039 C T rs368326813 CIITA Nonsynonymous SNV P209L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 9.188 115799 chr6 169621600 169621600 G A rs140852957 THBS2 Nonsynonymous SNV P1099L 0.003 0 0.017 1 3 0 0.003 5 0 0 0 0 Benign 33 115800 chr17 4575599 4575601 TCT - rs543663593 PELP1 E908del 0.002 0 0 3 2 0 0.008 0 0 0 0 0 115801 chr16 84328661 84328661 C T rs371335943 WFDC1 Synonymous SNV A28A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 16.08 115802 chr16 84482234 84482234 G A rs759240294 ATP2C2 Synonymous SNV T382T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 115803 chr6 100061221 100061221 C T rs200243118 PRDM13 Nonsynonymous SNV A237V 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 6.582 115804 chr17 46628464 46628464 - CCG rs777494068 HOXB3 G178_D179insG 0.002 0 0 2 2 0 0.005 0 0 0 0 0 115805 chr16 84520651 84520651 G A rs142638484 MEAK7 Synonymous SNV L182L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.874 115806 chr6 22136764 22136764 G A rs79555544 NBAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.497 115807 chr6 24572893 24572893 T C rs146550659 KIAA0319 Nonsynonymous SNV M545V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 115808 chr7 131195917 131195917 T G rs55698400 PODXL Nonsynonymous SNV T126P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.546 115809 chr6 25492208 25492208 A G rs377529456 CARMIL1 Synonymous SNV Q392Q 0.004 0 0.01 0 5 0 0 3 0 0 0 0 8.504 115810 chr7 134625934 134625934 C T rs201681214 CALD1 Nonsynonymous SNV S232L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 115811 chr17 4722788 4722788 C T rs768926191 PLD2 Synonymous SNV I791I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 115812 chr16 1823331 1823331 G A rs200988728 EME2 Nonsynonymous SNV D35N 0.005 0 0.003 5 6 0 0.013 1 0 0 0 0 23.2 115813 chr17 48245899 48245899 C T rs767691968 SGCA Nonsynonymous SNV R184C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 115814 chr17 48655577 48655577 C T rs58348936 CACNA1G Synonymous SNV S651S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.68 115815 chr6 160239666 160239666 C T rs760549447 PNLDC1 Stop gain R413X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 43 115816 chr17 4857113 4857113 G A rs142390642 ENO3 Synonymous SNV G96G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.49 115817 chr16 8870332 8870332 A T rs140640183 ABAT Synonymous SNV G418G 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 0.039 115818 chr6 28060398 28060398 T C rs56355079 ZSCAN12P1 0 0 0.041 0 0 0 0 12 0 0 3 0 4.272 115819 chr6 125541286 125541286 T C rs150625143 TPD52L1 Nonsynonymous SNV S28P 0.017 0.008 0.003 7 20 3 0.018 1 0 0 0 0 15.92 115820 chr6 129670493 129670493 C T rs147077184 LAMA2 Nonsynonymous SNV A1496V 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 115821 chr17 48918051 48918051 C A rs761633207 WFIKKN2 Synonymous SNV R375R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 115822 chr6 132272027 132272027 G C rs111779788 CCN2 Nonsynonymous SNV R58G 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 24.5 115823 chr16 88876876 88876876 C T rs372253865 APRT Synonymous SNV L92L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.92 115824 chr17 46051357 46051357 C T rs11545890 CDK5RAP3 Nonsynonymous SNV T107M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 115825 chr6 35438317 35438317 G A rs139957434 MIR7111 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.048 115826 chr17 56345247 56345247 C A LPO Synonymous SNV T594T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 115827 chr6 142468536 142468536 T A rs2232300 VTA1 Nonsynonymous SNV C38S 0 0 0 2 0 0 0.005 0 0 0 0 0 25 115828 chr7 148801945 148801945 G A rs766863560 ZNF425 Nonsynonymous SNV R340C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.7 115829 chr16 2522095 2522095 C T rs201591654 NTN3 Synonymous SNV S131S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.157 115830 chr17 56435312 56435312 G A rs139405076 RNF43 Nonsynonymous SNV R482W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 115831 chr7 149522109 149522109 - G rs760535412 SSPO 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 115832 chr17 76161975 76161975 G A C17orf99 Nonsynonymous SNV D216N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.31 115833 chr16 28990588 28990588 G A rs137908704 SPNS1 Nonsynonymous SNV R164Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 25 115834 chr6 151726969 151726969 G C rs752095518 RMND1 Synonymous SNV V231V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.61 115835 chr17 63010848 63010848 C G rs1062597 GNA13 Nonsynonymous SNV V126L 0.01 0.01 0.007 3 12 4 0.008 2 0 0 0 0 24.2 115836 chr6 42626564 42626564 - A rs35416750 UBR2 0 0 0.031 0 0 0 0 9 0 0 0 0 115837 chr16 30012275 30012275 G A rs149544726 INO80E Nonsynonymous SNV A104T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.08 115838 chr6 42932667 42932667 - TTGCGTGTGATGGCACTTAGAACGCGTAG PEX6 Stop gain K889Nfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 115839 chr6 42934186 42934262 CTAGGAGATGGAAAGTGCGTGGTTGGGATATGCTCTTGGAGGGGCTCCTGTCCCACCTCCAAGGACTTGGTCTCCAC - PEX6 0 0 0.003 0 0 0 0 1 0 0 0 0 115840 chr6 42937537 42937619 CACCTGTGAAAGGTAATAAAAAGCTTTCGTTTCTAAAAATCGTTTCTACCCCCTGCGCTGGTCTACACCCATCCTTGGGGCCT - PEX6 V412del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 115841 chr16 3050581 3050581 C A rs890596538 LOC101929613 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.228 115842 chr16 22825961 22825961 G A rs376922851 HS3ST2 Synonymous SNV G10G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.2 115843 chr17 1611329 1611329 C T rs11654372 TLCD2 Nonsynonymous SNV R177H 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 22.9 115844 chr16 23641408 23641408 C T rs371149159 PALB2 Synonymous SNV S689S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.19 115845 chr17 7710586 7710586 C T rs760969643 DNAH2 Synonymous SNV G3187G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.19 115846 chr16 31146742 31146742 C T rs11558743 PRSS8 Synonymous SNV S26S 0.008 0.01 0.01 1 9 4 0.003 3 0 0 0 0 14.23 115847 chr17 7750183 7750183 - ACCACC KDM6B P264_L265insPP 0.013 0.01 0 2 15 4 0.005 0 0 0 0 0 115848 chr16 3140321 3140321 - CGGGTGCGAGCGCAGCTGGTGCGCCTTCAGGCGAGA rs757890624 ZSCAN10 P234_A235insSRLKAHQLRSHP 0.001 0 0 2 1 0 0.005 0 0 0 0 0 115849 chr17 1684643 1684643 C T rs144817739 SMYD4 Synonymous SNV E784E 0.003 0 0 0 3 0 0 0 0 0 0 0 12.67 115850 chr17 78064032 78064032 - GGCACGTGCACGAACAACACGGGACGCGCGCG CCDC40 Frameshift insertion R1014Tfs*39 0.004 0.003 0 0 5 1 0 0 1 0 0 0 115851 chr17 17118598 17118598 C T rs41419545 FLCN Nonsynonymous SNV A445T 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.501 115852 chr6 47847014 47847014 G A rs773260815 PTCHD4 Synonymous SNV Y522Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.166 115853 chr8 1904965 1904965 G A rs577376669 ARHGEF10 Nonsynonymous SNV V1153I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 115854 chr6 49668405 49668405 T C rs57295760 CRISP2 Synonymous SNV P53P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 7.551 115855 chr8 2044163 2044163 G A rs372383174 MYOM2 Synonymous SNV P734P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.117 115856 chr6 49806196 49806196 G A rs35289289 CRISP1 Synonymous SNV G192G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.567 115857 chr6 51913349 51913349 C T rs185941281 PKHD1 Nonsynonymous SNV R783Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.12 115858 chr17 71205858 71205858 - TGC FAM104A A90_S91insA 0.001 0 0.003 0 1 0 0 1 0 0 0 0 115859 chr17 18219976 18219976 C T rs150121253 SMCR8 Synonymous SNV A291A 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 2.263 115860 chr8 4277581 4277581 C A rs747921329 CSMD1 Synonymous SNV S103S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 115861 chr16 455023 455023 C A rs148802661 DECR2 Synonymous SNV R50R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 115862 chr17 708374 708374 C T rs374139460 NXN Nonsynonymous SNV V204M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 115863 chr6 56365932 56365932 C A rs376562335 DST Nonsynonymous SNV Q3991H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 115864 chr17 7225013 7225013 C T rs777432893 NEURL4 Nonsynonymous SNV G987S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.501 115865 chr17 7193813 7193813 G A rs142852785 YBX2 Synonymous SNV P167P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.803 115866 chr16 4945305 4945305 T C PPL Nonsynonymous SNV K400R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.69 115867 chr17 72285836 72285836 C T rs201457010 DNAI2 Nonsynonymous SNV P191S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.184 115868 chr6 168467448 168467448 C T rs41266313 FRMD1 Nonsynonymous SNV G82R 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 Benign 26.6 115869 chr17 79899354 79899354 G A rs536536456 MYADML2 Synonymous SNV T88T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.075 115870 chr17 7259205 7259205 G C rs79041177 TMEM95 Nonsynonymous SNV R92P 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 20.6 115871 chr17 72436927 72436927 G A rs776030935 GPRC5C Nonsynonymous SNV V338M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 115872 chr8 11702705 11702705 C T rs79487342 CTSB Nonsynonymous SNV D193N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23 115873 chr6 74161604 74161604 C T rs141133909 CGAS Nonsynonymous SNV G101R 0.009 0.021 0.044 6 11 8 0.015 13 0 1 0 0 5.119 115874 chr17 7287342 7287342 C T rs767495219 TNK1 Synonymous SNV A212A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.53 115875 chr8 14412266 14412266 A G SGCZ Nonsynonymous SNV I70T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 115876 chr6 76373006 76373006 A G rs145031402 SENP6 Nonsynonymous SNV I249V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 16.89 115877 chr17 73124974 73124974 T G rs200128989 ARMC7 Synonymous SNV L146L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.958 115878 chr17 2238152 2238152 T C rs79597880 TSR1 Nonsynonymous SNV K199E 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 25.5 115879 chr8 17055097 17055097 G A rs367778155 ZDHHC2 Nonsynonymous SNV R82Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 115880 chr17 2291195 2291195 G A rs202042731 MNT Nonsynonymous SNV T319M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.4 115881 chr16 57201105 57201105 T A PSME3IP1 Nonsynonymous SNV N128Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 115882 chr17 73826692 73826692 G T UNC13D Synonymous SNV I892I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 115883 chr6 87965265 87965265 C T rs368647343 ZNF292 Nonsynonymous SNV L640F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 115884 chr16 53686503 53686503 T C RPGRIP1L Nonsynonymous SNV K699R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.053 115885 chr17 8354195 8354195 C T rs371840348 NDEL1 Synonymous SNV S208S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.58 115886 chr17 74010591 74010591 G A rs76498735 EVPL Synonymous SNV S785S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 13.21 115887 chr6 90572138 90572138 G A rs202238236 CASP8AP2 Nonsynonymous SNV G237D 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 12.31 115888 chr6 90660754 90660754 G A rs2236182 BACH2 Synonymous SNV P357P 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 0.171 115889 chr17 2865773 2865773 G A rs544706382 LOC101927911 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.363 115890 chr17 74066476 74066476 T C rs16968495 SRP68 Synonymous SNV G78G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.577 115891 chr17 74097311 74097311 G C rs113648734 EXOC7 Stop gain S153X 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.055 115892 chr17 29220797 29220797 T G rs80059969 ATAD5 Synonymous SNV V1642V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.537 115893 chr17 29844839 29844839 C T rs144187253 RAB11FIP4 Synonymous SNV V67V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 115894 chr18 11689814 11689814 G A rs370118361 GNAL Synonymous SNV E84E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 14.69 115895 chr17 74382929 74382929 G A rs750554404 SPHK1 Synonymous SNV T139T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.525 115896 chr7 100088708 100088708 C T rs756530979 NYAP1 Nonsynonymous SNV A753V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 115897 chr17 3119210 3119210 C T rs144175148 OR1A1 Nonsynonymous SNV T99M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 115898 chr17 7480150 7480150 G A rs200300377 SNORD10 0.002 0 0 0 2 0 0 0 0 0 0 0 18.97 115899 chr7 100421435 100421435 C T rs746477743 EPHB4 Nonsynonymous SNV R81Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 115900 chr16 57493591 57493591 C T rs143587648 COQ9 Nonsynonymous SNV R276W 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 34 115901 chr16 67762415 67762415 C T RANBP10, RANBP10 Nonsynonymous SNV S364N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 115902 chr16 67848275 67848275 C T rs548824636 TSNAXIP1 Nonsynonymous SNV R40C 0.007 0.005 0.01 7 8 2 0.018 3 0 0 1 0 6.749 115903 chr16 67911496 67911496 T C rs748621229 EDC4 Synonymous SNV P242P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.5 115904 chr7 45650085 45650085 C T rs78087585 ADCY1 Synonymous SNV H299H 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Benign 13.83 115905 chr7 45956850 45956850 G C rs141788305 IGFBP3 Nonsynonymous SNV Q198E 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 23.7 115906 chr16 67977903 67977903 C T rs919086282 LCAT Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.35 115907 chr16 68112408 68112408 C G rs144941462 DUS2 Nonsynonymous SNV Q376E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 115908 chr16 68379680 68379680 G A rs138848888 PRMT7 Nonsynonymous SNV V294I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 115909 chr17 7329077 7329077 G A rs369996104 SPEM2 Nonsynonymous SNV E24K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.54 115910 chr7 16597017 16597017 T C rs561474564 LRRC72 Synonymous SNV Y89Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.157 115911 chr17 76798608 76798608 G A rs199789383 USP36 Synonymous SNV P940P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.718 115912 chr8 26636918 26636918 T C rs61760540 ADRA1A Nonsynonymous SNV N305D 0.008 0.018 0.003 7 9 7 0.018 1 0 0 0 0 2.162 115913 chr18 28612229 28612229 G T rs2852003 DSC3 Nonsynonymous SNV A28D 0.032 0.026 0.02 13 38 10 0.033 6 0 0 1 0 24.8 115914 chr16 67166816 67166816 T - C16orf70 0.002 0 0 0 2 0 0 0 0 0 0 0 115915 chr18 28934982 28934982 C T rs145643174 DSG1 Synonymous SNV P941P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.622 115916 chr17 78064175 78064175 A G rs190696966 CCDC40 Nonsynonymous SNV R1024G 0.014 0.042 0.017 1 16 16 0.003 5 5 7 2 0 0.498 115917 chr16 72137516 72137516 G A rs771638072 DHX38 Synonymous SNV V551V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 115918 chr17 78013692 78013692 - A CCDC40 Frameshift insertion A60Sfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 115919 chr17 78320021 78320021 C T RNF213 Nonsynonymous SNV T2629I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.93 115920 chr8 36780142 36780142 G A rs189989959 KCNU1 Nonsynonymous SNV A911T 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 Benign 32 115921 chr16 69377470 69377470 A G rs72795291 TMED6 Nonsynonymous SNV M188T 0.014 0.008 0.014 3 17 3 0.008 4 1 0 0 0 0.68 115922 chr8 38034461 38034461 G A rs781640921 BAG4 Nonsynonymous SNV G25D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23 115923 chr8 49986690 49986690 A G rs184442562 PPDPFL Nonsynonymous SNV Q43R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.246 115924 chr8 54792002 54792002 C T RGS20 Nonsynonymous SNV S117L 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 115925 chr7 34192860 34192860 A G BMPER Nonsynonymous SNV K678R 0 0 0 3 0 0 0.008 0 0 0 0 0 21.6 115926 chr16 81942134 81942134 G A rs372347274 PLCG2 Synonymous SNV K557K 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 Benign 13.6 115927 chr16 837082 837082 G A rs200309613 RPUSD1 Nonsynonymous SNV S6L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 115928 chr16 75148431 75148431 G A rs144025042 LDHD Nonsynonymous SNV H208Y 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 4.343 115929 chr7 100682607 100682607 G C rs559809815 MUC17 Nonsynonymous SNV S2637T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 115930 chr18 48248404 48248404 T C rs780530095 MAPK4 Nonsynonymous SNV F52S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 115931 chr17 8026441 8026441 G A HES7 Nonsynonymous SNV L16F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 115932 chr17 8018946 8018946 C T rs761657026 ALOXE3 Nonsynonymous SNV R138Q 0.003 0 0 0 3 0 0 0 1 0 0 0 12.74 115933 chr7 43508550 43508550 G C HECW1 Nonsynonymous SNV C948S 0 0 0 2 0 0 0.005 0 0 0 0 0 19.69 115934 chr7 106301305 106301305 G A CCDC71L Nonsynonymous SNV P13L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 115935 chr7 107399553 107399553 C T rs376632103 CBLL1 Nonsynonymous SNV P468L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 115936 chr8 86180136 86180136 T C rs34047437 CA13 Synonymous SNV G152G 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 Benign 8.147 115937 chr17 78063997 78064028 CGCAGGCACGTGCACGAAGAACACGGGACGCG - CCDC40 K970Nfs*113 0.014 0.003 0.01 4 17 1 0.01 3 3 0 0 1 115938 chr16 81712174 81712174 C T rs775691924 CMIP Synonymous SNV I349I 0.003 0 0 0 3 0 0 0 0 0 0 0 16.14 115939 chr7 111368370 111368370 G A rs768270066 DOCK4 Nonsynonymous SNV P1954L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 115940 chr16 82124512 82124512 G A HSD17B2 Nonsynonymous SNV A224T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.054 115941 chr7 94992146 94992146 A T PON3 Nonsynonymous SNV Y235N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.1 115942 chr7 47840309 47840309 G A rs145005848 PKD1L1 Nonsynonymous SNV R2711W 0 0 0 2 0 0 0.005 0 0 0 0 0 10.94 115943 chr8 95789917 95789917 - TG rs773501053 DPY19L4 Frameshift insertion M496Afs*3 0.002 0.003 0 0 2 1 0 0 0 0 0 0 115944 chr8 95802054 95802054 A G rs767411203 DPY19L4 Synonymous SNV P696P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.388 115945 chr18 59894681 59894681 A G rs369238556 RELCH Nonsynonymous SNV I340V 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 0.015 115946 chr7 123599641 123599641 A G rs199703625 SPAM1 Nonsynonymous SNV E383G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.29 115947 chr7 127240280 127240280 T - FSCN3 F442Lfs*100 0 0 0.003 0 0 0 0 1 0 0 0 0 115948 chr18 61223520 61223520 G A rs367650461 SERPINB12 Nonsynonymous SNV R43H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.54 115949 chr18 21453152 21453152 G A rs768557496 LAMA3 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 115950 chr17 79813368 79813368 C T P4HB Synonymous SNV L149L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 115951 chr17 79826341 79826341 A T ARHGDIA Nonsynonymous SNV W208R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.81 115952 chr17 41345439 41345439 C G rs148320569 NBR1 Synonymous SNV A415A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.31 115953 chr18 21913036 21913036 A T rs34907319 OSBPL1A Nonsynonymous SNV N165K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.659 115954 chr7 64292313 64292313 C T rs62456845 ZNF138 Synonymous SNV A84A 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 11.1 115955 chr7 132174173 132174173 C T rs142386862 PLXNA4 Nonsynonymous SNV D417N 0.006 0 0.014 2 7 0 0.005 4 0 0 0 0 Benign 23.3 115956 chr16 88594633 88594633 C T rs145401494 ZFPM1 Synonymous SNV T233T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.24 115957 chr16 89245952 89245952 C T rs148798647 CDH15 Synonymous SNV N57N 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 Likely benign 12.97 115958 chr16 89292039 89292039 G A rs117884871 ZNF778 Synonymous SNV T107T 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 8.227 115959 chr18 32335965 32335965 G C DTNA Nonsynonymous SNV G9R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.61 115960 chr18 32682068 32682068 T C rs111906099 MAPRE2 Synonymous SNV G132G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.142 115961 chr18 32833780 32833780 G T ZSCAN30 Synonymous SNV I186I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.42 115962 chr18 32834035 32834035 A G rs760928067 ZSCAN30 Synonymous SNV D101D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.229 115963 chr18 32843982 32843982 C T rs368624179 ZSCAN30 Nonsynonymous SNV R112Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 115964 chr17 80436706 80436706 G A NARF Nonsynonymous SNV G136D 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 27.8 115965 chr16 8941654 8941654 G A rs151319324 PMM2 Nonsynonymous SNV R238H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 115966 chr17 8051021 8051021 G A PER1 Synonymous SNV A453A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.83 115967 chr18 72245524 72245524 C T CNDP1 Synonymous SNV L377L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.466 115968 chr18 29437922 29437922 T C rs145263800 TRAPPC8 Synonymous SNV T923T 0.003 0 0 0 4 0 0 0 0 0 0 0 1.819 115969 chr7 76829000 76829000 A G rs3093274 FGL2 Synonymous SNV D37D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.033 115970 chr7 76916159 76916159 C T rs6967658 CCDC146 Synonymous SNV F731F 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 11.23 115971 chr18 74154635 74154635 G A rs758710230 ZNF516 Nonsynonymous SNV R126W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 115972 chr18 34378445 34378445 G A rs3826606 TPGS2 Synonymous SNV A165A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.06 115973 chr17 45914223 45914223 G A rs143367535 LRRC46 Nonsynonymous SNV D235N 0.005 0 0 0 6 0 0 0 0 0 0 0 15.37 115974 chr18 35145555 35145555 C T CELF4 Nonsynonymous SNV S17N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 115975 chr18 76753549 76753549 C G rs770295723 SALL3 Nonsynonymous SNV P520A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.94 115976 chr17 4645767 4645767 G A rs146332466 ZMYND15 Synonymous SNV L375L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.359 115977 chr18 45567160 45567160 T A ZBTB7C Nonsynonymous SNV I107F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 115978 chr8 128099472 128099472 G A rs553063953 PRNCR1 0.003 0 0 0 3 0 0 0 0 0 0 0 10.72 115979 chr17 46865339 46865339 G A rs147901482 TTLL6 Nonsynonymous SNV R168W 0.005 0 0 0 6 0 0 0 0 0 0 0 32 115980 chr18 47800027 47800027 C T rs139622890 MBD1 Synonymous SNV P372P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 16.55 115981 chr7 142481789 142481789 T C rs374686280 PRSS3P2 0 0 0.02 0 0 0 0 6 0 0 3 0 5.532 115982 chr7 142640916 142640916 G T rs8176034 KEL Synonymous SNV R516R 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Benign 8.84 115983 chr7 142651349 142651349 C G rs8175993 KEL Synonymous SNV L282L 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 6.241 115984 chr17 4797910 4797910 G A rs79940062 MINK1 Nonsynonymous SNV D930N 0.023 0.026 0.003 4 27 10 0.01 1 2 0 0 0 27.8 115985 chr17 4802608 4802608 G A rs767374241 CHRNE Synonymous SNV P368P 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.078 115986 chr18 21735832 21735832 C T CABYR Nonsynonymous SNV P25S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.8 115987 chr18 47432957 47432957 C T rs769427830 MYO5B Nonsynonymous SNV R749Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 115988 chr7 94913617 94913617 C - rs776438816 PPP1R9A S1195Lfs*2 0 0 0 3 0 0 0.008 0 0 0 0 0 115989 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAG MYH3 Stop gain G203Sfs*22 0.009 0.018 0 2 10 7 0.005 0 0 0 0 0 115990 chr7 148991687 148991687 G A rs772577111 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 4.384 115991 chr7 149484550 149484550 G A rs188422566 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 115992 chr19 10577643 10577643 G A rs201305717 PDE4A Synonymous SNV L430L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.41 115993 chr17 18166551 18166551 C T rs150881339 MIEF2 Nonsynonymous SNV S100L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 115994 chr7 102733083 102733083 G A rs142906964 ARMC10 Nonsynonymous SNV G195R 0.003 0 0 0 3 0 0 0 0 0 0 0 33 115995 chr17 18181298 18181298 C T rs144665877 TOP3A Nonsynonymous SNV G745R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.151 115996 chr17 18220721 18220721 G T rs143815623 SMCR8 Nonsynonymous SNV A540S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 115997 chr7 103051939 103051939 A G rs151200437 SLC26A5 Synonymous SNV N166N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 6.719 115998 chr17 5392706 5392706 G C MIS12 Nonsynonymous SNV R175T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 115999 chr7 105429081 105429081 G A rs202128787 ATXN7L1 Synonymous SNV V108V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 16.48 116000 chr7 1523742 1523742 G A rs200983063 INTS1 Nonsynonymous SNV P1109L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.356 116001 chr17 5436162 5436162 G T NLRP1 Nonsynonymous SNV D1062E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 116002 chr7 111484842 111484842 G A rs770258303 DOCK4 Nonsynonymous SNV R905W 0.003 0 0 0 4 0 0 0 0 0 0 0 33 116003 chr17 54990983 54990983 T C TRIM25 Nonsynonymous SNV M123V 0.003 0 0 0 4 0 0 0 0 0 0 0 23 116004 chr8 144803727 144803727 C T rs201596367 MAPK15 Nonsynonymous SNV R405C 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 7.08 116005 chr7 158528258 158528258 G A rs145653899 ESYT2 Nonsynonymous SNV T793M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 116006 chr19 12126251 12126251 C T rs189458355 ZNF433 Synonymous SNV P477P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.16 116007 chr17 57158575 57158575 G T rs369706031 TRIM37 Synonymous SNV G91G 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 12.07 116008 chr17 58156228 58156228 C T rs116476597 HEATR6 Synonymous SNV R16R 0.012 0 0 3 14 0 0.008 0 0 0 0 0 13.75 116009 chr7 128035239 128035239 C T rs756300430 IMPDH1 Nonsynonymous SNV G341S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 116010 chr19 12404107 12404107 A G rs1028988435 ZNF44 Synonymous SNV P29P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.022 116011 chr18 63511191 63511191 T C rs139333396 CDH7 Synonymous SNV P375P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.743 116012 chr7 129045036 129045036 G A rs772673247 AHCYL2 Nonsynonymous SNV R374H 0.009 0.008 0 0 11 3 0 0 0 0 0 0 35 116013 chr19 13210474 13210474 C A LYL1 Nonsynonymous SNV G168C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 116014 chr17 62018613 62018613 G A rs774089795 SCN4A Synonymous SNV L1677L 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 5.696 116015 chr17 62020259 62020259 G A rs141215137 SCN4A Synonymous SNV L1405L 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Benign/Likely benign 12.51 116016 chr19 14043981 14043981 C T rs202013571 PODNL1 Nonsynonymous SNV R268H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 116017 chr19 14268096 14268096 G A rs144059709 ADGRL1 Synonymous SNV L904L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.442 116018 chr18 55247336 55247336 C A rs3848519 FECH Nonsynonymous SNV G55C 0.011 0.018 0.017 7 13 7 0.018 5 0 0 0 1 Benign/Likely benign 6.869 116019 chr18 7231740 7231740 G A rs186252904 LRRC30 Nonsynonymous SNV A202T 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 25.9 116020 chr19 1469481 1469483 CCC - APC2 P2061del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 116021 chr8 145659624 145659624 C G TONSL Nonsynonymous SNV G1042R 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 22.1 116022 chr7 137773486 137773486 G A rs199535210 AKR1D1 Nonsynonymous SNV R78Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 12.27 116023 chr19 14862278 14862278 G A rs3752187 ADGRE2 Nonsynonymous SNV S607F 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 15.86 116024 chr7 139791824 139791824 A C rs778784237 KDM7A Nonsynonymous SNV S837R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.52 116025 chr18 59925893 59925893 T C rs777741251 RELCH Nonsynonymous SNV I729T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 116026 chr7 31569420 31569420 T G rs528641876 ITPRID1 Nonsynonymous SNV L13R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.235 116027 chr9 5163973 5163973 T C rs143274541 INSL6 Synonymous SNV P194P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.725 116028 chr19 15364408 15364408 G C BRD4 Nonsynonymous SNV P782R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.737 116029 chr19 1584671 1584671 C T rs111228603 MBD3 Synonymous SNV K92K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 15.25 116030 chr17 7005496 7005496 G A rs751562671 ASGR2 Nonsynonymous SNV T209M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.969 116031 chr17 34106076 34106076 C T rs184976878 MMP28 Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 116032 chr7 36446141 36446141 C T rs748050195 ANLN Nonsynonymous SNV A280V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 116033 chr17 34852104 34852104 C G rs376791784 MYO19 Synonymous SNV G768G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.11 116034 chr7 38725157 38725157 T G rs17416951 FAM183BP 0 0 0.099 0 0 0 0 29 0 0 0 0 1.425 116035 chr17 7129608 7129608 C T rs762306066 DVL2 Nonsynonymous SNV R596Q 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 116036 chr19 10935829 10935829 G A rs757366208 DNM2 Nonsynonymous SNV V660M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.843 116037 chr7 144098529 144098529 C T rs201806397 NOBOX Nonsynonymous SNV G152R 0.008 0.01 0 5 9 4 0.013 0 0 0 0 0 Benign 12.46 116038 chr19 16488063 16488063 G A EPS15L1 Synonymous SNV P750P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.1 116039 chr19 10449527 10449527 G - rs758137959 ICAM3 S59Afs*30 0.002 0 0 0 2 0 0 0 0 0 0 0 116040 chr7 43495992 43495992 C T rs201757499 HECW1 Nonsynonymous SNV P832L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.2 116041 chr18 712554 712554 G C ENOSF1 Nonsynonymous SNV R12G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.36 116042 chr17 72436313 72436313 G C rs138905098 GPRC5C Nonsynonymous SNV C133S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.06 116043 chr19 17056382 17056382 C T rs779083309 CPAMD8 Nonsynonymous SNV V924I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.23 116044 chr19 11598125 11598125 C T rs113817713 ZNF653 Nonsynonymous SNV G385S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 116045 chr17 3749411 3749411 T G rs12449334 NCBP3 Nonsynonymous SNV E36A 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 28.3 116046 chr19 11833947 11833947 C T rs368490143 ZNF823 Synonymous SNV K90K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 116047 chr7 117451011 117451011 C T rs368768466 CTTNBP2 Synonymous SNV R56R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.51 116048 chr19 10748579 10748579 C A rs139709421 SLC44A2 Nonsynonymous SNV F579L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 116049 chr19 10812144 10812144 G A rs149290202 QTRT1 Nonsynonymous SNV G3E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.605 116050 chr19 1226555 1226555 C T rs200078204 STK11 Nonsynonymous SNV S404F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.03 116051 chr19 12461135 12461135 C T rs11085808 ZNF442 Nonsynonymous SNV G353R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 1.868 116052 chr19 12461212 12461212 A G rs11085809 ZNF442 Nonsynonymous SNV M327T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 23 116053 chr19 12462071 12462071 G T rs10415207 ZNF442 Nonsynonymous SNV P41T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.002 116054 chr17 38645077 38645077 C T rs149697085 TNS4 Nonsynonymous SNV R195Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 116055 chr19 12462122 12462122 T C rs10423273 ZNF442 Nonsynonymous SNV I24V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.001 116056 chr9 35295780 35295780 C T rs138440338 UNC13B Nonsynonymous SNV T205I 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 24.7 116057 chr17 38907448 38907448 C T rs72821893 KRT25 Nonsynonymous SNV R267H 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 26.9 116058 chr19 12463902 12463902 C G rs10405079 ZNF442 Synonymous SNV A35A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.45 116059 chr19 17396385 17396385 C T rs146466494 ANKLE1 Nonsynonymous SNV R471W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 116060 chr17 36485998 36485998 A G rs149252987 GPR179 Nonsynonymous SNV S1152P 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 Benign/Likely benign 24.7 116061 chr19 11465311 11465311 C T rs374274390 CCDC159 Synonymous SNV S276S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.49 116062 chr19 12791136 12791136 C T rs148284175 DHPS Nonsynonymous SNV E29K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.97 116063 chr19 11489146 11489146 C T rs138884102 EPOR Synonymous SNV P347P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 16.2 116064 chr17 36487204 36487204 A T rs772088402 GPR179 Nonsynonymous SNV S750T 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Uncertain significance 23 116065 chr7 5105107 5105107 T G RBAK Nonsynonymous SNV S674A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 116066 chr9 36219881 36219881 G A rs111302956 GNE Synonymous SNV Y480Y 0.013 0.01 0.02 5 15 4 0.013 6 0 0 0 0 Benign/Likely benign 9.623 116067 chr19 12980064 12980064 C T rs137886919 MAST1 Synonymous SNV V986V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.68 116068 chr19 13216115 13216115 C T rs150832090 TRMT1 Nonsynonymous SNV R571Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 116069 chr19 13246606 13246606 C T rs113254389 NACC1 Synonymous SNV G195G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.996 116070 chr19 13876870 13876870 C T rs143669512 MRI1 Synonymous SNV S158S 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 10.93 116071 chr17 38562660 38562660 A C TOP2A Synonymous SNV P643P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.331 116072 chr19 14805888 14805888 C G rs61995698 ZNF333 Nonsynonymous SNV R24G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.76 116073 chr17 38933856 38933856 C G rs776517358 KRT27 Nonsynonymous SNV Q367H 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 28.4 116074 chr17 38933857 38933857 T A rs759450498 KRT27 Nonsynonymous SNV Q367L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 29.7 116075 chr19 18391872 18391872 G A rs200554852 JUND Synonymous SNV V98V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.48 116076 chr19 15061134 15061134 G C SLC1A6 Nonsynonymous SNV S523C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 116077 chr19 19822534 19822534 C T rs201226556 ZNF14 Nonsynonymous SNV R519Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 116078 chr7 73811413 73811413 C T rs144390075 CLIP2 Synonymous SNV N875N 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 11.26 116079 chr17 40444045 40444045 A G rs149721767 STAT5A Nonsynonymous SNV Y114C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 116080 chr9 85964665 85964665 T C FRMD3 Synonymous SNV P101P 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 5.395 116081 chr19 15471673 15471673 T C rs150603939 AKAP8 Nonsynonymous SNV N505D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 116082 chr19 21565791 21565791 G C ZNF738 Nonsynonymous SNV C148S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.029 116083 chr7 75915086 75915086 C T rs868943449 SRRM3 Nonsynonymous SNV R656W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.95 116084 chr19 15290236 15290236 G T rs112197217 NOTCH3 Nonsynonymous SNV H1133Q 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Benign 22.3 116085 chr17 76462826 76462826 A T rs375782344 DNAH17 Nonsynonymous SNV C2951S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 116086 chr19 23405278 23405278 T A rs748388065 ZNF724 Nonsynonymous SNV Y590F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.2 116087 chr19 15965579 15965579 G A CLEC4O Nonsynonymous SNV A47V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.148 116088 chr17 76488840 76488840 T C rs201761004 DNAH17 Nonsynonymous SNV K2139R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.68 116089 chr7 142562057 142562057 - CCT EPHB6 S176_A177insS 0 0 0 1 0 0 0.003 0 0 0 0 0 116090 chr7 796489 796489 C T rs777008597 DNAAF5 Nonsynonymous SNV T443M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.353 116091 chr17 76497779 76497779 G A rs547177939 DNAH17-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.619 116092 chr7 81593401 81593401 T A rs145109446 CACNA2D1 Nonsynonymous SNV Q917H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 12.93 116093 chr19 16606881 16606881 G C rs370721650 CALR3 Synonymous SNV T20T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 14.28 116094 chr17 76535932 76535932 G C rs61743408 DNAH17 Nonsynonymous SNV L855V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 116095 chr7 143096429 143096429 A C EPHA1 Nonsynonymous SNV S305A 0 0 0 3 0 0 0.008 0 0 0 0 0 0.002 116096 chr17 76566367 76566367 C T rs146026632 DNAH17 Nonsynonymous SNV V336I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 116097 chr19 12790530 12790530 G A rs780863009 DHPS Synonymous SNV I124I 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 12.73 116098 chr17 76570924 76570924 G A rs61745225 DNAH17 Synonymous SNV L72L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.772 116099 chr19 12881776 12881776 T G rs780877365 HOOK2 Nonsynonymous SNV Q291P 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 26.8 116100 chr19 16962292 16962292 A G rs61754499 SIN3B Nonsynonymous SNV S266G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 9.699 116101 chr19 291038 291038 C T PLPP2 Nonsynonymous SNV R10Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.541 116102 chr19 17384726 17384726 G A rs368554117 BABAM1 Nonsynonymous SNV A120T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 116103 chr19 13993764 13993764 G A rs77270337 C19orf57 Nonsynonymous SNV R471W 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 32 116104 chr17 45755467 45755467 T C KPNB1 Nonsynonymous SNV I575T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 116105 chr19 14591132 14591132 G A GIPC1 Nonsynonymous SNV P117S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 26.4 116106 chr8 21848357 21848357 G C XPO7 Nonsynonymous SNV Q634H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 17.8 116107 chr19 17396577 17396577 G A rs145927575 ANKLE1 Nonsynonymous SNV V505M 0.008 0 0.007 1 9 0 0.003 2 0 0 0 0 24.1 116108 chr19 17631821 17631821 G A rs148164602 PGLS Synonymous SNV L236L 0.019 0.018 0.01 4 22 7 0.01 3 0 0 0 0 10.88 116109 chr17 40828478 40828478 - CGTCCC rs575311542 PLEKHH3 D34_E35insGD 0.01 0.008 0.01 5 12 3 0.013 3 0 0 1 0 116110 chr17 46655290 46655290 G A rs138158637 HOXB4 Nonsynonymous SNV P131L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 21.7 116111 chr7 95115332 95115332 G C rs35047380 ASB4 Nonsynonymous SNV V17L 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 0.086 116112 chr7 97822060 97822060 G A rs56123416 LMTK2 Synonymous SNV T761T 0.007 0.029 0.014 4 8 11 0.01 4 0 0 0 0 8.24 116113 chr17 79258688 79258688 G A rs61740871 SLC38A10 Synonymous SNV H75H 0.009 0.013 0 7 11 5 0.018 0 0 0 0 0 4.458 116114 chr19 15784370 15784370 C T rs181648518 CYP4F12 Nonsynonymous SNV L11F 0.008 0.018 0.003 5 9 7 0.013 1 0 0 0 0 1.889 116115 chr17 42290642 42290642 A G rs902523630 UBTF Synonymous SNV Y161Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.013 116116 chr8 101052298 101052298 A G RGS22 Synonymous SNV D471D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 116117 chr9 113088516 113088516 A G rs146296855 TXNDC8 Nonsynonymous SNV L45P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.6 116118 chr9 113261445 113261445 G T rs148849997 SVEP1 Synonymous SNV A519A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.128 116119 chr19 36213931 36213931 G A rs767059945 KMT2B Synonymous SNV P919P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.423 116120 chr17 43011906 43011906 G A rs370902311 KIF18B Nonsynonymous SNV A219V 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 26 116121 chr17 79994102 79994102 G A DCXR Nonsynonymous SNV T197I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.893 116122 chr19 19335835 19335835 G A NCAN Synonymous SNV A276A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.31 116123 chr17 80280768 80280768 G A rs139132437 SECTM1 Stop gain Q175X 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 32 116124 chr19 19655248 19655248 G A rs749487084 CILP2 Nonsynonymous SNV G632S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 116125 chr19 19767521 19767521 C T rs377597721 ATP13A1 Nonsynonymous SNV R344H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 116126 chr19 19823446 19823446 T C rs137958672 ZNF14 Nonsynonymous SNV H215R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 116127 chr19 21240503 21240503 C T rs144780397 ZNF430 Synonymous SNV G462G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.54 116128 chr19 22272013 22272013 C T ZNF257 Synonymous SNV Y411Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.442 116129 chr19 22499914 22499914 T C rs554294107 ZNF729 Nonsynonymous SNV L1232P 0.003 0 0 0 3 0 0 0 0 0 0 0 2.671 116130 chr19 2251323 2251323 G A rs1014988797 AMH Synonymous SNV L350L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.005 116131 chr8 119391660 119391660 A T rs755687640 SAMD12 Nonsynonymous SNV I201N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.709 116132 chr17 56384308 56384308 C T rs377423150 TSPOAP1 Nonsynonymous SNV D1609N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 116133 chr19 2761500 2761500 G A rs111283489 SGTA Synonymous SNV F219F 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 9.663 116134 chr19 2933663 2933663 C T rs763427838 ZNF77 Nonsynonymous SNV G488R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 116135 chr9 120475493 120475493 G C TLR4 Nonsynonymous SNV G163R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.67 116136 chr17 57771129 57771129 C T rs148633723 CLTC Synonymous SNV A1652A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 116137 chr19 32902201 32902201 G T rs150957517 DPY19L3 Nonsynonymous SNV A54S 0.004 0 0 0 5 0 0 0 0 0 0 0 22.2 116138 chr8 57218237 57218237 T G rs151227475 SDR16C5 Nonsynonymous SNV E208A 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 0.112 116139 chr8 125463435 125463435 C G rs61737278 TRMT12 Synonymous SNV L89L 0.01 0.008 0.014 7 12 3 0.018 4 0 0 0 0 0.132 116140 chr17 60003820 60003820 G A rs61752321 INTS2 Synonymous SNV L62L 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 7.155 116141 chr19 39025366 39025366 C G rs4802584 RYR1 Nonsynonymous SNV Q3751E 0.007 0.016 0.007 1 8 6 0.003 2 0 0 0 0 Benign 11.43 116142 chr19 33663289 33663289 T G rs772254326 WDR88 Nonsynonymous SNV I395M 0.002 0 0 0 2 0 0 0 0 0 0 0 7.119 116143 chr8 129162433 129162433 G T rs2648841 MIR1208 0 0 0.071 0 0 0 0 21 0 0 2 0 2.101 116144 chr19 39226792 39226792 T C CAPN12 Nonsynonymous SNV D514G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 116145 chr17 61710051 61710051 G A rs143536059 MAP3K3 Synonymous SNV E5E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 116146 chr19 3478866 3478866 G A rs769350431 SMIM24 Synonymous SNV F43F 0.003 0 0 0 3 0 0 0 0 0 0 0 3.835 116147 chr19 19675816 19675816 C T PBX4 Nonsynonymous SNV G284D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.25 116148 chr17 62476451 62476451 C G rs17850455 POLG2 Nonsynonymous SNV G416A 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign/Likely benign 25.2 116149 chr8 16012594 16012594 G A rs41341748 MSR1 Stop gain R311X 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 36 116150 chr19 35800889 35800889 G A rs149838575 MAG Synonymous SNV S423S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.5 116151 chr19 408118 408118 C G rs569037424 C2CD4C Nonsynonymous SNV A82P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.003 116152 chr19 41035017 41035017 C G rs140544038 SPTBN4 Nonsynonymous SNV H1309Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.9 116153 chr19 36339660 36339660 G T NPHS1 Nonsynonymous SNV S350Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 116154 chr19 36278945 36278945 C T rs140331892 ARHGAP33 Nonsynonymous SNV R996W 0.003 0 0.007 0 3 0 0 2 0 0 0 0 28.4 116155 chr19 23927921 23927921 C T ZNF681 Nonsynonymous SNV C144Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.78 116156 chr19 24310403 24310403 C G rs200619801 ZNF254 Nonsynonymous SNV T449S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.252 116157 chr19 41816224 41816224 C T rs138815567 CCDC97 Synonymous SNV A3A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.5 116158 chr8 144400187 144400187 C - rs780176693 TOP1MT 0 0 0.003 0 0 0 0 1 0 0 0 0 116159 chr9 131670361 131670361 C T rs200186109 LRRC8A Synonymous SNV R306R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.984 116160 chr8 22438990 22438990 G T PDLIM2 Nonsynonymous SNV E64D 0 0 0 2 0 0 0.005 0 0 0 0 0 24 116161 chr19 3204732 3204732 C T rs61745459 NCLN Synonymous SNV S397S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 14.24 116162 chr8 23302034 23302034 C T rs145344037 ENTPD4 Synonymous SNV R166R 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 18.06 116163 chr19 44015692 44015692 G A ETHE1 Synonymous SNV G36G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.76 116164 chr19 44015697 44015697 - GT ETHE1 Frameshift insertion P35Tfs*13 0.003 0.003 0 0 3 1 0 0 0 0 0 0 116165 chr19 37975093 37975093 A G rs138299958 ZNF570 Nonsynonymous SNV H148R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.022 116166 chr19 34263787 34263787 C T rs749617284 CHST8 Nonsynonymous SNV P365L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 116167 chr9 134395580 134395580 C T rs150814269 POMT1 Synonymous SNV S414S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 13.35 116168 chr19 3810779 3810779 C A ZFR2 Nonsynonymous SNV R801L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 27.2 116169 chr8 145166659 145166659 G A rs866933144 WDR97 Nonsynonymous SNV R871H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.326 116170 chr9 135144795 135144795 G A rs45490698 SETX Nonsynonymous SNV L2457F 0.009 0 0.003 2 10 0 0.005 1 0 0 0 0 9.328 116171 chr17 67023531 67023531 G A rs139620510 ABCA9 Synonymous SNV N617N 0.003 0 0 0 3 0 0 0 0 0 0 0 3.533 116172 chr8 124982301 124982301 C T rs75666983 FER1L6 Synonymous SNV P137P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.22 116173 chr18 59195301 59195301 A C CDH20 Synonymous SNV T373T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.015 116174 chr8 145741236 145741236 A G rs768991485 RECQL4 Synonymous SNV F390F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.232 116175 chr8 145741256 145741256 G A rs766026341 RECQL4 Nonsynonymous SNV R384W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 116176 chr8 145758650 145758650 C T rs201135983 ARHGAP39 Synonymous SNV P885P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 116177 chr19 36002371 36002394 CCACTGCTGCCGCCACTGCTGCCG - rs760401945 DMKN G284_G291del 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 116178 chr19 36002711 36002711 G A rs143821677 DMKN Nonsynonymous SNV T230M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25.2 116179 chr19 36003975 36003975 C A rs78344601 DMKN Nonsynonymous SNV V135L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 3.154 116180 chr17 72999672 72999672 G T rs187215004 CDR2L Nonsynonymous SNV G301W 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 22.3 116181 chr9 137801741 137801741 C T rs778695287 FCN1 Nonsynonymous SNV G295E 0.004 0 0 0 5 0 0 0 0 0 0 0 24.8 116182 chr19 44833844 44833844 T C rs1011904243 ZNF112 Nonsynonymous SNV I95V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 116183 chr17 73489813 73489813 C T rs148832482 TMEM94 Synonymous SNV C751C 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 14.89 116184 chr17 73494528 73494528 C G rs138177817 TMEM94 Nonsynonymous SNV N1224K 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 0.79 116185 chr17 73497963 73497963 C T rs143069531 CASKIN2 Synonymous SNV P982P 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 10.78 116186 chr17 73500931 73500931 C T rs77062784 CASKIN2 Nonsynonymous SNV S303N 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 14.96 116187 chr17 73501999 73501999 G A rs143299940 CASKIN2 Synonymous SNV D164D 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 13.68 116188 chr19 40884069 40884069 C T rs373686736 PLD3 Nonsynonymous SNV R488C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 116189 chr17 7366685 7366685 G A rs35231078 ZBTB4 Nonsynonymous SNV A539V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.081 116190 chr17 7367080 7367080 G A rs11871207 ZBTB4 Synonymous SNV P407P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.054 116191 chr8 53452401 53452401 T C rs140720808 ALKAL1 Synonymous SNV S105S 0 0 0 3 0 0 0.008 0 0 0 0 0 1.477 116192 chr18 7013883 7013883 C T rs149157836 LAMA1 Synonymous SNV S1098S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 15.03 116193 chr19 3784824 3784824 G A rs202076593 MATK Nonsynonymous SNV T3M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 16.27 116194 chr19 45209000 45209000 G A rs758738520 CEACAM16 Nonsynonymous SNV G268R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 116195 chr17 74071033 74071033 C G rs775993279 GALR2 Synonymous SNV P23P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.45 116196 chr19 45974556 45974556 G A FOSB Synonymous SNV Q184Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.049 116197 chr19 46216306 46216306 G A rs377664802 FBXO46 Nonsynonymous SNV R150W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.87 116198 chr9 140109647 140109647 C T rs150718423 NDOR1 Nonsynonymous SNV S355L 0.004 0.013 0.01 0 5 5 0 3 0 0 0 0 29.6 116199 chr19 46332329 46332329 G A rs756221928 SYMPK Synonymous SNV N628N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.47 116200 chr19 46352074 46352074 G A rs367596675 SYMPK Synonymous SNV D120D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.17 116201 chr19 38905715 38905715 G C rs202008979 RASGRP4 Nonsynonymous SNV R238G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 15.64 116202 chr17 76087655 76087655 G A rs749625453 TNRC6C Nonsynonymous SNV A1310T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.98 116203 chr8 77763275 77763275 C A rs781583220 ZFHX4 Nonsynonymous SNV T1373K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.847 116204 chr8 86057632 86057632 A G rs747455750 LRRCC1 Synonymous SNV Q616Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 116205 chr8 2836198 2836198 C G CSMD1 Synonymous SNV L2834L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 116206 chr8 87556968 87556968 G A rs139489122 CPNE3 Nonsynonymous SNV V212M 0 0 0 3 0 0 0.008 0 0 0 0 0 32 116207 chr10 735510 735510 G A rs372847542 DIP2C Synonymous SNV D3D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 8.668 116208 chr10 1279780 1279780 G T rs199735124 ADARB2 Nonsynonymous SNV R457S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.2 116209 chr8 3165982 3165982 G A rs146926975 CSMD1 Synonymous SNV Y1225Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.882 116210 chr19 10395796 10395796 C T rs5030400 ICAM1 Nonsynonymous SNV R478W 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Uncertain significance 23.7 116211 chr19 48588360 48588360 C T rs753489261 PLA2G4C Nonsynonymous SNV R277K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.156 116212 chr19 48698878 48698878 G T rs141761031 ZSWIM9 Nonsynonymous SNV Q519H 0.01 0.005 0.01 7 12 2 0.018 3 0 0 0 1 1.055 116213 chr10 5141020 5141020 T C AKR1C3 Synonymous SNV D132D 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.033 116214 chr19 44470475 44470475 A G rs144749364 ZNF221 Nonsynonymous SNV K274R 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.454 116215 chr17 78058781 78058781 G C rs377219039 CCDC40 Nonsynonymous SNV E743D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.14 116216 chr8 39323387 39323387 T C rs7840918 ADAM3A 0 0 0.119 0 0 0 0 35 0 0 12 0 4.328 116217 chr8 39331010 39331010 G A rs7822450 ADAM3A 0 0 0.112 0 0 0 0 33 0 0 11 0 0.671 116218 chr10 6540462 6540462 C A rs147069375 PRKCQ Synonymous SNV R21R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 116219 chr10 11370953 11370953 G A rs149270354 CELF2 Synonymous SNV Q260Q 0.007 0 0 1 8 0 0.003 0 0 0 0 0 0.761 116220 chr8 57224804 57224804 G A SDR16C5 Nonsynonymous SNV A126V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 116221 chr8 118830761 118830761 A G rs200372337 EXT1 Synonymous SNV V515V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.113 116222 chr8 57354067 57354067 T C rs140692001 PENK Nonsynonymous SNV M190V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.9 116223 chr8 62212827 62212827 T C rs199797149 CLVS1 Synonymous SNV N147N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 116224 chr19 4254465 4254465 G C rs150087617 YJU2 Nonsynonymous SNV E128D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 16.92 116225 chr8 62479817 62479817 T A rs780357987 ASPH Nonsynonymous SNV T375S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.87 116226 chr8 62559365 62559365 A G rs143851903 ASPH Nonsynonymous SNV M159T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 116227 chr19 42777789 42777789 C T rs531918653 CIC Synonymous SNV P618P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.398 116228 chr8 62596704 62596704 G A rs144828443 ASPH Synonymous SNV L20L 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Likely benign 6.756 116229 chr19 42911534 42911534 C T rs150537286 LIPE Synonymous SNV S643S 0.001 0.005 0.007 0 1 2 0 2 0 0 1 0 Likely benign 13.16 116230 chr19 13255238 13255238 G - rs758355474 STX10 L197Yfs*42 0.002 0 0 0 2 0 0 0 0 0 0 0 116231 chr8 66517549 66517549 T C rs16932266 ARMC1 Synonymous SNV S100S 0.008 0.005 0.014 0 9 2 0 4 0 0 0 0 4.043 116232 chr19 49845811 49845811 A G TEAD2 Nonsynonymous SNV Y375H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 116233 chr8 70667704 70667704 C T rs138700050 SLCO5A1 Nonsynonymous SNV A405T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.7 116234 chr19 49912510 49912510 G A rs199694412 CCDC155 Synonymous SNV S372S 0.012 0.005 0.003 1 14 2 0.003 1 0 0 0 0 13.37 116235 chr19 49925728 49925728 G C rs138135482 PTH2 Synonymous SNV P100P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.129 116236 chr17 78078758 78078758 C G GAA Nonsynonymous SNV P125A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 116237 chr19 4544066 4544066 G C rs575239140 SEMA6B Synonymous SNV G738G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.761 116238 chr8 128752924 128752924 C T rs200431478 MYC Nonsynonymous SNV S361F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 29.6 116239 chr19 50386324 50386324 G T rs778027067 TBC1D17 Nonsynonymous SNV R308L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.8 116240 chr10 21784847 21784847 G C rs529778141 MIR1915HG 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 1.179 116241 chr10 23248458 23248458 G C ARMC3 Synonymous SNV P164P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.7 116242 chr19 50542478 50542478 G A rs139691184 ZNF473 Nonsynonymous SNV G12R 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 23.7 116243 chr8 81399733 81399733 A C ZBTB10 Nonsynonymous SNV T230P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 116244 chr8 8185814 8185814 C T rs55844905 PRAG1 Synonymous SNV P826P 0.003 0.003 0.01 0 3 1 0 3 1 0 0 0 10.55 116245 chr19 50771432 50771432 C T rs138987081 MYH14 Synonymous SNV R906R 0.017 0.016 0.014 6 20 6 0.015 4 0 0 0 0 Benign 17.76 116246 chr17 7909747 7909747 C T rs138836357 GUCY2D Nonsynonymous SNV R365W 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.18 116247 chr8 134128945 134128945 A G rs10091530 TG Nonsynonymous SNV N2616S 0.002 0.003 0.014 1 2 1 0.003 4 0 0 1 0 Likely benign 0.001 116248 chr19 50958387 50958387 G - MYBPC2 K680Rfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 116249 chr8 87235283 87235283 C T rs55902108 SLC7A13 Synonymous SNV A245A 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 14.01 116250 chr17 8380301 8380301 C T rs147471775 MYH10 Synonymous SNV A1893A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 116251 chr19 15133893 15133893 - CGC rs544254392 CCDC105 P491_R492insP 0.006 0 0 2 7 0 0.005 0 0 0 0 0 116252 chr9 22447252 22447252 C T rs764010857 DMRTA1 Nonsynonymous SNV A63V 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 18.43 116253 chr8 88885458 88885458 T C DCAF4L2 Nonsynonymous SNV I248V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 116254 chr19 15586845 15586845 C T rs368981308 PGLYRP2 Synonymous SNV P212P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 116255 chr9 33941714 33941714 G A UBAP2 Nonsynonymous SNV S568F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 116256 chr8 95802020 95802020 G T rs149041883 DPY19L4 Nonsynonymous SNV R685L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 116257 chr8 96259948 96259948 T C rs148114532 C8orf37 Nonsynonymous SNV K142R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Uncertain significance 13.85 116258 chr18 19076596 19076596 G A rs184926533 GREB1L Nonsynonymous SNV D1110N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.7 116259 chr9 35089196 35089196 A G rs147316771 PIGO Nonsynonymous SNV F1055L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Uncertain significance 33 116260 chr9 35094002 35094002 G A rs200656082 PIGO Synonymous SNV D225D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.64 116261 chr19 48956059 48956059 G C rs772729812 GRWD1 Nonsynonymous SNV G373A 0.001 0 0 0 1 0 0 0 0 0 0 0 27 116262 chr19 45281211 45281211 G A rs34932144 CBLC Stop gain W8X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 116263 chr19 5211612 5211612 A G rs41276864 PTPRS Synonymous SNV I1294I 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Benign 1.987 116264 chr19 45296871 45296884 GGGGCAGGTGAGCA - CBLC G381Cfs*26 0.002 0.003 0 0 2 1 0 0 0 0 0 0 116265 chr8 144163943 144163943 A T rs145802655 LY6L Nonsynonymous SNV I98F 0.009 0.005 0.007 4 11 2 0.01 2 0 0 0 0 22.8 116266 chr19 49207101 49207101 A C rs141630650 FUT2 Synonymous SNV A296A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.015 116267 chr9 106889571 106889571 C T rs11554260 SMC2 Nonsynonymous SNV S867L 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 21 116268 chr19 45924532 45924532 C T rs3212947 ERCC1 Synonymous SNV T75T 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Uncertain significance 13.85 116269 chr18 28651744 28651744 G A rs771735507 DSC2 Nonsynonymous SNV T651I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.089 116270 chr18 2891830 2891830 C T rs148632051 EMILIN2 Nonsynonymous SNV P569S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.543 116271 chr19 4670336 4670336 G C rs376938392 MYDGF Nonsynonymous SNV P4R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 116272 chr19 4683783 4683783 T A rs570495616 DPP9-AS1 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.178 116273 chr19 4704164 4704164 G A rs187492097 DPP9 Synonymous SNV D193D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.225 116274 chr10 50178246 50178246 C T rs41283303 WDFY4 Nonsynonymous SNV T2947M 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 0.012 116275 chr19 4818167 4818167 G A rs11466719 TICAM1 Nonsynonymous SNV R75C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 15.37 116276 chr9 115626539 115626539 G A rs370780169 SNX30 Nonsynonymous SNV V372I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 116277 chr19 48198290 48198290 C T rs200735162 BICRA Nonsynonymous SNV P1010L 0.006 0.008 0.007 5 7 3 0.013 2 0 0 0 0 22.7 116278 chr9 91653016 91653016 G A rs150513468 SHC3 Synonymous SNV D516D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.12 116279 chr19 48725062 48725062 C T rs16981828 CARD8 Synonymous SNV S312S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 10.74 116280 chr18 45555809 45555809 C A ZBTB7C Nonsynonymous SNV R561L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 116281 chr19 49102477 49102477 G A rs142168444 SULT2B1 Nonsynonymous SNV M289I 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 7.771 116282 chr19 51330296 51330296 T C rs759669685 KLK15 Nonsynonymous SNV I106V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 116283 chr9 98209410 98209410 G A rs142148876 PTCH1 Synonymous SNV S1324S 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign/Likely benign 14.97 116284 chr19 51452287 51452287 G T rs8104840 KLK5 Synonymous SNV I140I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.65 116285 chr18 5145573 5145573 G A rs370601324 AKAIN1 Synonymous SNV H66H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 7.113 116286 chr19 51639285 51639285 C G rs114486750 SIGLEC9 Nonsynonymous SNV R424G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.549 116287 chr9 125621256 125621256 T C rs762064203 RC3H2 Nonsynonymous SNV S659G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 116288 chr18 44030345 44030345 C T rs137969413 RNF165 Synonymous SNV A42A 0.003 0 0 0 3 0 0 0 0 0 0 0 18.48 116289 chr19 55789210 55789210 C T rs983824586 HSPBP1 Nonsynonymous SNV R118H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 116290 chr19 50338332 50338332 C T rs559482732 MED25 Synonymous SNV G524G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 11.66 116291 chr9 109691575 109691575 C G rs148824453 ZNF462 Nonsynonymous SNV F1794L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.47 116292 chr19 52394946 52394946 G A rs145464081 ZNF649 Nonsynonymous SNV T148M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.771 116293 chr9 111663928 111663928 A G ELP1 Nonsynonymous SNV F281L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.75 116294 chr19 53792914 53792914 A C rs770969486 BIRC8 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.527 116295 chr19 52888069 52888069 - TT rs754039307 ZNF880 Frameshift insertion C413Ffs*17 0.008 0.008 0 8 9 3 0.021 0 0 0 0 0 116296 chr9 130582296 130582296 C T rs770249062 ENG Synonymous SNV T385T 0 0 0.003 0 0 0 0 1 0 0 0 0 13 116297 chr19 52888071 52888071 - GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC rs778289600 ZNF880 Stop gain C413Wfs*9 0.008 0.008 0 8 9 3 0.021 0 0 0 0 0 116298 chr9 130656953 130656953 C T rs61740973 ST6GALNAC6 Synonymous SNV V11V 0.002 0.003 0.02 1 2 1 0.003 6 0 0 0 0 17.22 116299 chr19 56125171 56125172 GG - ZNF865 G63Pfs*15 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 116300 chr19 56226456 56226456 C T rs141468083 NLRP9 Synonymous SNV A822A 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 11.38 116301 chr19 56373423 56373423 A C NLRP4 Nonsynonymous SNV D695A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.866 116302 chr19 51483498 51483498 T C rs368770142 KLK7 Nonsynonymous SNV D84G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.464 116303 chr19 51485583 51485585 CTT - rs748206275 KLK7 R66del 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 116304 chr19 56466372 56466372 G C NLRP8 Synonymous SNV L316L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.052 116305 chr18 61569778 61569778 C T rs147312209 SERPINB2 Synonymous SNV A273A 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Likely benign 14.08 116306 chr9 132903767 132903767 - A rs567935090 GPRACR 0 0 0.044 0 0 0 0 13 0 0 0 0 116307 chr18 61570408 61570408 A T rs143371424 SERPINB2 Nonsynonymous SNV T373S 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 12.34 116308 chr9 133768827 133768827 G A rs139926605 QRFP Synonymous SNV F133F 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 13.13 116309 chr18 61597326 61597326 A C rs137981176 SERPINB10 Synonymous SNV R180R 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 0.491 116310 chr18 61602119 61602119 A G rs143758664 SERPINB10 Synonymous SNV A279A 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 0.264 116311 chr9 77367203 77367203 T C rs55679040 TRPM6 Nonsynonymous SNV Q1658R 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign/Likely benign 18.43 116312 chr19 55623837 55623837 C T rs143271686 PPP1R12C Nonsynonymous SNV R190Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 116313 chr18 77105475 77105475 G T rs749890416 ATP9B Nonsynonymous SNV Q840H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 116314 chr9 134394340 134394340 C T rs377422156 POMT1 Synonymous SNV G342G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 116315 chr9 135187235 135187235 T C rs139063885 SETX Synonymous SNV Q1761Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.456 116316 chr10 96271357 96271357 T C TBC1D12 Synonymous SNV D569D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.909 116317 chr9 136029095 136029095 A C rs756144038 GBGT1 Nonsynonymous SNV F288V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 116318 chr10 96522463 96522463 A G rs28399504 CYP2C19 Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 drug response 15.94 116319 chr18 72109247 72109247 A G rs751144613 DIPK1C Synonymous SNV F327F 0.003 0 0 0 3 0 0 0 0 0 0 0 1.13 116320 chr9 136268125 136268125 G A rs782314382 STKLD1 Stop gain W486X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 116321 chr9 136279961 136279961 A T REXO4 Synonymous SNV V39V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 116322 chr9 136280025 136280025 G A rs141547732 REXO4 Nonsynonymous SNV S18L 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 10.78 116323 chr9 136648667 136648667 C T rs766333869 VAV2 Nonsynonymous SNV A551T 0 0 0.003 0 0 0 0 1 0 0 0 0 25 116324 chr19 54974440 54974440 G A rs115795789 LENG9 Synonymous SNV V90V 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 12.31 116325 chr10 99093692 99093692 C T rs757669451 FRAT2 Nonsynonymous SNV G213E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 21.3 116326 chr9 138395122 138395122 G A rs79342731 LOC101928525 0 0 0.044 0 0 0 0 13 0 0 0 0 4.673 116327 chr9 95081580 95081580 C T NOL8 Nonsynonymous SNV A114T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.031 116328 chr19 58983521 58983521 A C rs146385895 ZNF324 X554C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.57 116329 chr10 99655714 99655714 G A rs34404296 CRTAC1 Synonymous SNV D415D 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 12.19 116330 chr9 139372003 139372003 C T rs754445552 SEC16A Nonsynonymous SNV R22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 116331 chr19 53879034 53879034 A G ZNF525 Synonymous SNV T9T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.091 116332 chr19 5691464 5691541 GGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA - RPL36 V77Wfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 116333 chr9 139643198 139643198 G T rs1360880 LOC100128593 0 0 0.065 0 0 0 0 19 0 0 3 0 2.524 116334 chr9 127623742 127623742 G A rs148475910 RPL35 Synonymous SNV R32R 0.007 0.005 0.014 9 8 2 0.023 4 0 0 0 1 13.02 116335 chr18 9255081 9255081 A G rs141484109 ANKRD12 Nonsynonymous SNV S583G 0.009 0.008 0.01 0 10 3 0 3 0 0 0 0 11.79 116336 chr19 6733923 6733923 C A rs192687316 GPR108 Nonsynonymous SNV G184V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.844 116337 chr9 98209458 98209458 G A rs62637631 PTCH1 Synonymous SNV S1308S 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 Benign/Likely benign 14.42 116338 chr9 129642267 129642267 C T ZBTB34 Nonsynonymous SNV R193C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 116339 chr19 6755137 6755137 G A rs143491346 SH2D3A Nonsynonymous SNV P229L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 116340 chr19 39226850 39226850 - GCA rs560773156 CAPN12 C494_L495insC 0.001 0 0 0 1 0 0 0 0 0 0 0 116341 chr19 55870604 55870604 A G rs143751695 FAM71E2 Synonymous SNV P544P 0.011 0.005 0 1 13 2 0.003 0 0 0 0 0 0.39 116342 chr9 100819143 100819143 C T rs139706489 NANS Nonsynonymous SNV P18L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 34 116343 chr10 103988606 103988606 G A rs149375895 ELOVL3 Nonsynonymous SNV R137H 0.003 0 0 0 3 0 0 0 0 0 0 0 33 116344 chr19 55912969 55912969 A C rs111954966 UBE2S Synonymous SNV G168G 0.011 0.005 0 1 13 2 0.003 0 0 0 0 0 Likely benign 2.675 116345 chr19 11361552 11361552 C T rs750510535 DOCK6 Nonsynonymous SNV E240K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 116346 chr19 7677354 7677354 G C rs138441786 CAMSAP3 Nonsynonymous SNV G659R 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 11.59 116347 chr19 56029725 56029725 G T rs747195172 SSC5D Nonsynonymous SNV S1361I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.8 116348 chr19 11892175 11892175 T C rs140651700 ZNF441 Synonymous SNV F512F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.811 116349 chr19 40883783 40883783 A G rs745463234 PLD3 Nonsynonymous SNV T426A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.177 116350 chr19 12738544 12738544 G A rs551534386 ZNF791 Synonymous SNV T67T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.38 116351 chr9 140509234 140509234 C T rs140159666 ARRDC1 Nonsynonymous SNV S340L 0 0 0.007 0 0 0 0 2 0 0 0 0 28.9 116352 chr9 140786668 140786668 G A rs146520308 LOC100133077 0 0 0.02 0 0 0 0 6 0 0 0 0 0.608 116353 chr9 140786684 140786684 T A rs75312994 LOC100133077 0 0 0.02 0 0 0 0 6 0 0 0 0 4.571 116354 chr19 12924219 12924219 G T RNASEH2A Nonsynonymous SNV R280L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.707 116355 chr19 41765752 41765752 C T rs61737388 AXL Synonymous SNV P608P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12 116356 chr19 10677883 10677883 C T CDKN2D Nonsynonymous SNV G118S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.1 116357 chr19 13910729 13910729 C T ZSWIM4 Stop gain Q117X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 116358 chr19 41931557 41931557 C T rs138916717 B3GNT8 Nonsynonymous SNV R376Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 116359 chr9 17394994 17394994 C T rs144166918 CNTLN Nonsynonymous SNV H848Y 0.005 0.003 0.017 0 6 1 0 5 0 0 0 0 23.6 116360 chr19 8509905 8509905 C T rs199864928 HNRNPM Nonsynonymous SNV A8V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24 116361 chr19 56539657 56539657 C T rs374537249 NLRP5 Synonymous SNV D686D 0.003 0 0 0 3 0 0 0 0 0 0 0 9.121 116362 chr19 8591389 8591389 A G rs376154461 MYO1F Synonymous SNV V902V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 1.829 116363 chr19 11322486 11322486 C T rs751270954 DOCK6 Nonsynonymous SNV E1573K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 116364 chr19 5693616 5693616 C T rs35804229 LONP1 Nonsynonymous SNV A633T 0.007 0 0.007 2 8 0 0.005 2 0 0 0 0 21 116365 chr19 6719342 6719342 C T rs567851766 C3 Synonymous SNV A49A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 116366 chr9 214535 214535 C T rs577567776 DOCK8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 116367 chr9 21455410 21455410 C T rs73422265 MIR31HG 0 0 0.031 0 0 0 0 9 0 0 0 0 6.483 116368 chr19 6826689 6826689 C T rs144193852 VAV1 Synonymous SNV A266A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 15.87 116369 chr9 215090 215090 G A DOCK8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.67 116370 chr19 11558539 11558539 C T rs147655486 PRKCSH Nonsynonymous SNV P344L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.77 116371 chr19 12430576 12430576 C T rs533956905 ZNF563 Nonsynonymous SNV R88Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.682 116372 chr9 135211816 135211816 G A SETX Synonymous SNV C195C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 116373 chr19 13226488 13226488 C T TRMT1 Synonymous SNV L135L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.13 116374 chr10 121658400 121658400 C T rs148955366 SEC23IP Nonsynonymous SNV P209S 0.014 0.005 0.014 1 16 2 0.003 4 0 0 0 0 Benign 8.312 116375 chr19 57932323 57932323 A G rs748526157 ZNF17 Nonsynonymous SNV H488R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 116376 chr19 1581144 1581144 G A rs146464562 MBD3 Synonymous SNV L208L 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 10.51 116377 chr9 137778363 137778363 C A rs371833675 FCN2 Nonsynonymous SNV A178E 0.003 0 0 0 3 0 0 0 0 0 0 0 6.983 116378 chr19 1507630 1507630 C A ADAMTSL5 Nonsynonymous SNV G205V 0.003 0 0 0 3 0 0 0 0 0 0 0 33 116379 chr19 9075370 9075370 T C rs148585362 MUC16 Nonsynonymous SNV T4026A 0.014 0.018 0.01 1 16 7 0.003 3 0 0 0 0 0.001 116380 chr19 44791489 44791489 G A rs201696157 ZNF235 Nonsynonymous SNV T700I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 116381 chr19 621130 621130 C T rs56221930 POLRMT Synonymous SNV P856P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.8 116382 chr19 8670109 8670109 G A rs142804506 ADAMTS10 Nonsynonymous SNV R75C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 116383 chr19 6534728 6534728 G C rs61750000 TNFSF9 Nonsynonymous SNV G139A 0.003 0.003 0.01 0 4 1 0 3 0 0 1 0 Likely benign 22.9 116384 chr9 6007551 6007551 T C rs73389036 KIAA2026 Synonymous SNV L79L 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.872 116385 chr9 139903252 139903252 G A rs764228129 ABCA2 Synonymous SNV S2333S 0.011 0 0 2 13 0 0.005 0 0 0 0 0 10.85 116386 chr9 139946725 139946725 C T rs144578226 ENTPD2 Nonsynonymous SNV D65N 0.011 0 0 2 13 0 0.005 0 0 0 0 0 19.59 116387 chr19 58324710 58324710 G A rs146803584 ZNF552 Synonymous SNV L38L 0.017 0.018 0.007 10 20 7 0.026 2 0 0 0 0 2.663 116388 chr9 78854041 78854041 G A rs61747961 PCSK5 Synonymous SNV A1011A 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 7.933 116389 chr19 734174 734174 C T rs377577439 PALM Nonsynonymous SNV T141M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 116390 chr19 45593632 45593632 G A GEMIN7 Nonsynonymous SNV R87H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 116391 chr19 17007363 17007363 C T rs10418195 CPAMD8 Nonsynonymous SNV D1727N 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 19.99 116392 chr19 58823581 58823581 C T rs548052163 ERVK3-1, ZNF8-ERVK3-1 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.97 116393 chr19 7697672 7697672 G A rs150461106 PCP2 Synonymous SNV H16H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.612 116394 chr19 7964184 7964184 G A rs149579283 LRRC8E Synonymous SNV T130T 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 2.739 116395 chr19 18313488 18313488 G A rs767464691 RAB3A Synonymous SNV Y21Y 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 7.905 116396 chr19 46526220 46526220 C T rs149209645 PGLYRP1 Synonymous SNV A20A 0.002 0.005 0.003 5 2 2 0.013 1 0 0 0 0 12.69 116397 chr19 17392763 17392763 C T rs112925678 ANKLE1 Nonsynonymous SNV R12W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 116398 chr9 128230351 128230351 C T rs377231428 MAPKAP1 Synonymous SNV T223T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 16.95 116399 chr19 4683967 4683967 C T rs117374162 DPP9-AS1 0.014 0.008 0 5 16 3 0.013 0 0 0 0 0 7.651 116400 chr19 59074080 59074080 A G rs368446779 MZF1 Nonsynonymous SNV F522L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28.1 116401 chr19 19337633 19337633 G A NCAN Nonsynonymous SNV A471T 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 5.211 116402 chr1 110584257 110584257 C T rs41281344 STRIP1 Synonymous SNV A155A 0.021 0.013 0.003 3 25 5 0.008 1 0 0 0 0 16.97 116403 chr19 20735294 20735294 T A rs782536577 ZNF737 Synonymous SNV V71V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.224 116404 chr19 6476915 6476929 GCGCCGCGAACAGCC - DENND1C G162_L167delinsV 0 0.005 0 2 0 2 0.005 0 0 0 0 0 116405 chr19 20735296 20735296 C T rs782569026 ZNF737 Nonsynonymous SNV V71I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 116406 chr19 48480042 48480042 T C rs763688510 BSPH1 Nonsynonymous SNV E109G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.982 116407 chrM 982 982 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 116408 chr19 18278023 18278023 C T rs10413655 PIK3R2 Nonsynonymous SNV A548V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 18.4 116409 chr11 617383 617383 C T rs143800672 CDHR5 Nonsynonymous SNV D642N 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 18.48 116410 chrX 103495410 103495410 T C ESX1 Synonymous SNV Q240Q 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 116411 chr19 49377928 49377928 A G rs776355420 PPP1R15A Nonsynonymous SNV R480G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 116412 chr9 133346260 133346260 T C rs121908646 ASS1 Nonsynonymous SNV W179R 0 0 0 2 0 0 0.005 0 0 0 0 0 Pathogenic 24.4 116413 chrX 114424343 114424343 G A rs187066706 RBMXL3 Synonymous SNV G113G 0.003 0 0.01 0 3 0 0 3 0 0 1 0 0.373 116414 chrX 118221771 118221771 C T rs201563815 KIAA1210 Nonsynonymous SNV R1141Q 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 12.02 116415 chrX 118230468 118230468 G A rs35613130 KIAA1210 Nonsynonymous SNV L419F 0.001 0 0.01 0 1 0 0 3 0 0 1 0 3.341 116416 chrX 118230580 118230580 A G rs111299418 KIAA1210 Synonymous SNV S381S 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.276 116417 chrX 118230595 118230595 T C rs897493 KIAA1210 Synonymous SNV T376T 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.006 116418 chr19 9064562 9064562 C T rs117552735 MUC16 Synonymous SNV S7628S 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 7.957 116419 chrX 134993368 134993368 A G SAGE1 Nonsynonymous SNV S675G 0 0 0.007 0 0 0 0 2 0 0 1 0 8.383 116420 chrX 136112910 136112910 C G rs73637412 GPR101 Nonsynonymous SNV E308D 0.002 0.005 0.007 0 2 2 0 2 1 0 1 0 Conflicting interpretations of pathogenicity 0.001 116421 chr19 9072079 9072079 T G rs762644443 MUC16 Nonsynonymous SNV T5123P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.074 116422 chr1 109824680 109824680 C T rs41302083 PSRC1 Nonsynonymous SNV R27H 0.011 0.008 0.003 5 13 3 0.013 1 0 0 0 0 23.2 116423 chr19 50775925 50775925 G A rs369620344 MYH14 Nonsynonymous SNV R1094Q 0.002 0 0 4 2 0 0.01 0 0 0 0 0 15.19 116424 chr1 110170866 110170866 C T rs114727970 AMPD2 Synonymous SNV Y393Y 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.53 116425 chr9 135802597 135802597 T C rs371555137 TSC1 Synonymous SNV P67P 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.1 116426 chr9 135929816 135929816 C T rs369612433 GTF3C5 Nonsynonymous SNV P163L 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 116427 chr10 29136185 29136185 C T rs937025616 C10orf126 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 28.5 116428 chr9 136208483 136208483 C T rs75461307 MED22 Nonsynonymous SNV D159N 0 0 0 2 0 0 0.005 0 0 0 0 0 22.4 116429 chr19 2917590 2917590 G A rs141285162 ZNF57 Nonsynonymous SNV R292Q 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.265 116430 chr10 33137555 33137555 C T rs148971649 CCDC7 Synonymous SNV S1268S 0.012 0.01 0 1 14 4 0.003 0 0 0 0 0 12.02 116431 chr19 36211292 36211292 A C rs182258483 KMT2B Nonsynonymous SNV Q348P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 116432 chr19 36220900 36220900 G A rs753755217 KMT2B Synonymous SNV T1650T 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 13.78 116433 chr9 137693817 137693817 C T rs548678914 COL5A1 Synonymous SNV T990T 0 0 0 2 0 0 0.005 0 0 0 0 0 15.54 116434 chrX 2774658 2774658 T G rs980532055 GYG2 Nonsynonymous SNV F48V 0 0 0.007 0 0 0 0 2 0 0 1 0 25.2 116435 chr1 1132824 1132824 T C rs1057194134 TTLL10 Nonsynonymous SNV V540A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 116436 chr10 45473249 45473249 C T rs143373089 DEPP1 Nonsynonymous SNV R77H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.726 116437 chr1 147091005 147091005 C T rs61729410 BCL9 Synonymous SNV P348P 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 8.527 116438 chr19 36387367 36387367 G T rs765614920 NFKBID Nonsynonymous SNV P126H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 116439 chr19 51842389 51842389 G A rs927578268 VSIG10L Synonymous SNV P494P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 116440 chr1 115226836 115226836 A G AMPD1 Synonymous SNV N206N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.115 116441 chr19 9057958 9057958 C G rs375621958 MUC16 Nonsynonymous SNV V9830L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.082 116442 chr1 11561577 11561577 C T rs181120200 DISP3 Synonymous SNV P176P 0.014 0.013 0 1 17 5 0.003 0 0 0 0 0 2.601 116443 chr1 151142560 151142560 T C rs374246114 TMOD4 Synonymous SNV R345R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.338 116444 chr1 151259245 151259245 T A ZNF687 Nonsynonymous SNV L160M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.07 116445 chr1 151400305 151400305 T C rs574158925 POGZ Nonsynonymous SNV M263V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 association 0.068 116446 chr19 52569824 52569824 G T rs139155604 ZNF841 Synonymous SNV V321V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.375 116447 chrX 53111759 53111764 CCGCCG - rs782103002 TSPYL2 P32_P33del 0.003 0 0.007 0 4 0 0 2 1 0 1 0 116448 chr1 117635413 117635413 A G rs80076283 TTF2 Nonsynonymous SNV S956G 0.012 0.005 0.017 2 14 2 0.005 5 0 0 0 0 10.07 116449 chr19 37488397 37488397 C T rs753418487 ZNF568 Stop gain R538X 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 36 116450 chr11 1282814 1282814 G A rs762366069 MUC5B Synonymous SNV P5755P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.329 116451 chr10 48370635 48370635 C T rs782230600 ZNF488 Stop gain R35X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.5 116452 chr1 111742345 111742345 G A DENND2D Nonsynonymous SNV A45V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 116453 chr19 38138723 38138723 T C rs781158276 ZFP30 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 116454 chr1 11861458 11861458 T C MTHFR 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 116455 chr1 114682445 114682445 G A rs149181288 SYT6 Nonsynonymous SNV P102S 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 0.192 116456 chr1 114682446 114682446 G A rs151312827 SYT6 Synonymous SNV P101P 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 9.3 116457 chr1 153904741 153904741 C T rs976665337 DENND4B Nonsynonymous SNV R1323H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 116458 chr1 153924101 153924101 G A rs1934436 CRTC2 Synonymous SNV L347L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.383 116459 chr1 12403016 12403016 C T rs768184548 VPS13D Synonymous SNV L2906L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.1 116460 chr19 38956907 38956907 G A rs373541911 RYR1 Nonsynonymous SNV R1016Q 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Uncertain significance 28.9 116461 chr1 15438826 15438841 TGTGTGTGTGTGTGTG - TMEM51-AS1 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 116462 chr19 53762097 53762097 G T rs61751885 VN1R2 Nonsynonymous SNV D157Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 116463 chr1 117509703 117509703 T C rs149729867 PTGFRN Nonsynonymous SNV Y604H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 13.29 116464 chr1 11825919 11825919 C T rs534364135 C1orf167 Stop gain R26X 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 116465 chr10 63995839 63995839 G A rs139992024 RTKN2 Synonymous SNV L224L 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 4.798 116466 chr10 3181157 3181157 G C rs2279219 PITRM1 Nonsynonymous SNV I854M 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 Benign 23.2 116467 chr10 3186103 3186103 A T rs56724655 PITRM1-AS1 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 1.393 116468 chr10 3186526 3186526 G C rs59654932 PITRM1 Synonymous SNV A732A 0.008 0.008 0.01 3 9 3 0.008 3 0 0 0 0 0.652 116469 chr1 10397575 10397575 A G KIF1B Nonsynonymous SNV I1090V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.3 116470 chr1 155903578 155903578 G A KHDC4 Nonsynonymous SNV P34L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 116471 chr10 69651211 69651211 G A SIRT1 Nonsynonymous SNV A281T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 116472 chr1 147092499 147092499 G A rs782068761 BCL9 Synonymous SNV L846L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.581 116473 chr1 156555764 156555764 C G rs17392348 TTC24 Nonsynonymous SNV P532A 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 3.389 116474 chr1 1231969 1231969 G A rs368868926 ACAP3 Synonymous SNV S391S 0.012 0.01 0 4 14 4 0.01 0 0 0 0 0 6.979 116475 chr1 1238583 1238583 G A rs145087137 ACAP3 Nonsynonymous SNV R62C 0.014 0.018 0 4 17 7 0.01 0 0 0 0 0 25.6 116476 chr1 1246390 1246390 C G rs144555782 PUSL1 Nonsynonymous SNV H290Q 0.014 0.013 0 4 16 5 0.01 0 0 0 0 0 0.023 116477 chr1 156642744 156642744 G C rs6696672 NES Synonymous SNV L412L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.378 116478 chr19 55396905 55396905 G A rs771484287 FCAR Nonsynonymous SNV R98Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 116479 chr1 156906661 156906661 G A rs751372327 ARHGEF11 Nonsynonymous SNV P1486L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 116480 chr1 1309185 1309185 T C rs111933693 AURKAIP1 Nonsynonymous SNV K199R 0.018 0.013 0.007 7 21 5 0.018 2 0 0 0 0 0.991 116481 chr19 55559734 55559734 G A rs202206994 RDH13 Synonymous SNV I207I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13 116482 chr1 145561724 145561724 T C rs143042062 ANKRD35 Nonsynonymous SNV L381P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 116483 chr10 16737156 16737156 - G rs373104238 RSU1 0.007 0 0 4 8 0 0.01 0 0 0 0 1 116484 chr10 73544777 73544777 G A rs757570269 CDH23 Nonsynonymous SNV A1878T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Uncertain significance 22.2 116485 chr1 153587728 153587728 G A rs372036326 S100A14 Synonymous SNV L54L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 116486 chr1 15382667 15382667 T C rs2076570 KAZN Synonymous SNV N175N 0.009 0.018 0.007 4 10 7 0.01 2 0 0 0 0 3.993 116487 chr10 18828486 18828486 C T rs61733968 CACNB2 Nonsynonymous SNV R551W 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 116488 chr19 5590291 5590291 G T rs117896034 SAFB2 Synonymous SNV P841P 0.009 0.003 0.014 8 11 1 0.021 4 0 0 0 0 11.63 116489 chr1 151820239 151820239 C T THEM5 Synonymous SNV Q225Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.23 116490 chr1 15495100 15495100 C T rs41307800 C1orf195 Nonsynonymous SNV R91H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.853 116491 chr10 121677401 121677401 A G rs371628667 SEC23IP Nonsynonymous SNV N533S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 116492 chr10 12238268 12238268 C G CDC123 Nonsynonymous SNV H8Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 116493 chr11 5842283 5842283 T A rs61875922 OR52N2 Nonsynonymous SNV F240I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.1 116494 chr10 123503306 123503306 G A rs149469002 ATE1 Synonymous SNV Y386Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 116495 chr19 5654449 5654449 G A rs1129046 SAFB Synonymous SNV T422T 0.014 0.003 0.014 9 17 1 0.023 4 0 0 0 1 9.798 116496 chr10 91143632 91143632 C T rs142964444 IFIT1B Synonymous SNV L188L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.134 116497 chr10 91484915 91484915 A C KIF20B Nonsynonymous SNV E667D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.272 116498 chr11 6023763 6023763 G T OR56A4 Synonymous SNV R154R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.665 116499 chr19 5692192 5692192 C T rs1062373 LONP1 Nonsynonymous SNV V715I 0.015 0.008 0.014 10 18 3 0.026 4 0 0 0 1 9.019 116500 chr1 156507025 156507025 C T rs34980426 IQGAP3 Nonsynonymous SNV A1124T 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 9.486 116501 chr19 5696101 5696101 C T rs1062367 LONP1 Synonymous SNV S463S 0.015 0.008 0.014 10 18 3 0.026 4 0 0 0 1 12.29 116502 chr10 95360725 95360725 C A RBP4 Nonsynonymous SNV D21Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 116503 chr10 96104173 96104173 T C rs988063111 NOC3L Nonsynonymous SNV K524E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.8 116504 chr1 14143062 14143062 A T PRDM2 Nonsynonymous SNV T218S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 16.78 116505 chr1 1559225 1559225 C T rs372549723 MIB2 Nonsynonymous SNV R165C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 116506 chr19 4682949 4682949 G A rs762323450 DPP9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.136 116507 chr1 150470131 150470131 C G TARS2 Synonymous SNV G252G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.957 116508 chr19 47823349 47823349 C T rs145650202 C5AR1 Synonymous SNV G105G 0.006 0 0 2 7 0 0.005 0 0 0 0 0 11.96 116509 chr19 58805874 58805874 T C rs145477083 ZNF8 Nonsynonymous SNV C234R 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 11.02 116510 chr11 7092513 7092513 G A rs772118048 NLRP14 Nonsynonymous SNV D1086N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.255 116511 chr1 17405814 17405814 C T rs148233687 PADI2 Nonsynonymous SNV V419M 0.008 0.013 0.003 1 9 5 0.003 1 0 0 0 0 34 116512 chr10 103826923 103826923 C T rs147449083 HPS6 Synonymous SNV P564P 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign/Likely benign 1.32 116513 chr10 1405492 1405492 T C rs3750674 ADARB2 Nonsynonymous SNV T270A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 116514 chr10 103899861 103899861 G A rs886634456 PPRC1 Synonymous SNV L532L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.019 116515 chr1 161683114 161683114 T G rs769561392 FCRLA Nonsynonymous SNV L107V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.7 116516 chr10 105215091 105215091 C T rs41287500 CALHM1 Nonsynonymous SNV M323I 0.013 0.018 0.007 4 15 7 0.01 2 0 0 0 0 9.987 116517 chr10 105215216 105215216 C A rs41287502 CALHM1 Nonsynonymous SNV G282C 0.013 0.018 0.007 4 15 7 0.01 2 0 0 0 0 9.858 116518 chr10 18276556 18276556 C T rs150688709 SLC39A12 Synonymous SNV D281D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.43 116519 chr1 158911988 158911988 A T rs142992506 PYHIN1 Nonsynonymous SNV R267S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.424 116520 chr11 14865551 14865551 A G rs2229192 PDE3B Synonymous SNV L833L 0.005 0 0 0 6 0 0 0 0 0 0 0 7.82 116521 chr10 2118225 2118225 C G rs976084778 MIR6072 0 0 0.007 0 0 0 0 2 0 0 0 0 3.61 116522 chr1 154956490 154956490 C T rs773925274 FLAD1 Nonsynonymous SNV P107L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 116523 chr1 15987879 15987879 C T RSC1A1 Stop gain Q506X 0.006 0.003 0 0 7 1 0 0 0 0 0 0 36 116524 chr10 106159126 106159126 G T rs11192040 CFAP58 Synonymous SNV L561L 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 9.084 116525 chr10 24832437 24832437 C T rs763517809 KIAA1217 Nonsynonymous SNV T1413M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 116526 chr1 160057362 160057362 G A rs772716968 KCNJ9 Nonsynonymous SNV G313S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 116527 chr1 155151026 155151026 C T rs778912457 TRIM46 Nonsynonymous SNV R282C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 30 116528 chr1 155240714 155240714 G A rs12749700 CLK2 Nonsynonymous SNV R19C 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 24.9 116529 chr1 155257018 155257018 A G rs146467190 HCN3 Nonsynonymous SNV Y511C 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 23.5 116530 chr1 160523776 160523776 A T rs763677945 CD84 Synonymous SNV T69T 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.087 116531 chr19 46319154 46319154 G A rs372241569 SYMPK Synonymous SNV T1214T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.35 116532 chr1 182555588 182555588 G A rs146336238 RNASEL Synonymous SNV V118V 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.908 116533 chr1 166039919 166039919 G A rs755579978 FAM78B Synonymous SNV Y115Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.54 116534 chr1 156146634 156146634 G A rs765817156 SEMA4A Nonsynonymous SNV R579Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.7 116535 chr1 183086817 183086817 C T LAMC1 Synonymous SNV G612G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 14.43 116536 chr10 28899666 28899666 A G rs745884564 WAC Nonsynonymous SNV I299V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 116537 chr1 156255301 156255301 G A TMEM79 Nonsynonymous SNV R95Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 116538 chr1 167400922 167400922 C T rs201937405 CD247 Nonsynonymous SNV R163H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 116539 chr1 156521765 156521765 C T rs139298563 IQGAP3 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 23.6 116540 chr19 4818045 4818045 G A rs781668575 TICAM1 Synonymous SNV D115D 0.003 0 0 0 3 0 0 0 0 0 0 0 2.057 116541 chr1 16343695 16343695 G A rs752467360 HSPB7 Synonymous SNV P73P 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 8.298 116542 chr10 38241643 38241643 C G ZNF25 Nonsynonymous SNV K261N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.454 116543 chr1 157718401 157718401 A G rs755460380 FCRL2 Synonymous SNV S467S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.031 116544 chr1 157772175 157772175 G A rs146216789 FCRL1 Nonsynonymous SNV T200I 0.009 0.005 0.003 4 10 2 0.01 1 1 0 0 0 23.3 116545 chr19 8998763 8998763 A G rs375722672 MUC16 Nonsynonymous SNV I13607T 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 0.814 116546 chr1 167522819 167522819 C A CREG1 Nonsynonymous SNV D54Y 0.002 0 0 0 2 0 0 0 0 0 0 0 32 116547 chr1 19669343 19669343 G T rs6656875 CAPZB Synonymous SNV I249I 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 12.13 116548 chr19 48653350 48653350 A C rs767343361 LIG1 Nonsynonymous SNV F163C 0.006 0.005 0 0 7 2 0 0 0 0 0 0 25 116549 chr1 197094032 197094032 T C rs752700424 ASPM Nonsynonymous SNV R1046G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.401 116550 chr19 48949678 48949678 A G rs138505126 GRWD1 Nonsynonymous SNV H75R 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 13.62 116551 chr1 19992954 19992954 G A rs61285556 HTR6 Synonymous SNV T236T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.31 116552 chr1 20066439 20066439 G A rs144670706 TMCO4 Synonymous SNV L353L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.88 116553 chr11 34139840 34139840 C T rs35674959 NAT10 Nonsynonymous SNV P152L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 22.7 116554 chr10 76910337 76910337 A C rs760714176 SAMD8 Synonymous SNV V17V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.654 116555 chr1 171526895 171526909 GCCTCTTCCCCAGCT - PRRC2C S1881_A1885del 0.002 0 0 0 2 0 0 0 0 0 0 0 116556 chr1 171673653 171673653 C T rs745362209 VAMP4 Nonsynonymous SNV R139H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.63 116557 chr1 17593232 17593232 C T rs145809596 PADI3 Nonsynonymous SNV P143S 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 24.3 116558 chr11 46727308 46727308 T G rs35287195 ZNF408 Nonsynonymous SNV F678L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.434 116559 chr11 47306599 47306599 G T rs199538960 MADD Nonsynonymous SNV Q755H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23 116560 chr10 5202104 5202104 C T rs2801889 AKR1C8P 0 0 0.105 0 0 0 0 31 0 0 15 0 18.02 116561 chr19 52942411 52942411 G A rs113700997 ZNF534 Synonymous SNV A538A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.564 116562 chr1 177199043 177199043 G A rs569593343 BRINP2 Nonsynonymous SNV G11R 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 116563 chr1 17975146 17975148 CTC - rs762513649 ARHGEF10L S495del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 116564 chr1 167870972 167870972 A G ADCY10 Nonsynonymous SNV C30R 0 0.005 0 3 0 2 0.008 0 0 0 0 0 25.7 116565 chr11 281199 281199 C T NLRP6 Synonymous SNV L489L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.27 116566 chr1 169529814 169529814 C G rs1557573 F5 Synonymous SNV G188G 0.002 0.008 0.003 4 2 3 0.01 1 0 0 0 0 Benign/Likely benign 6.108 116567 chr1 180945779 180945779 C T rs148786215 STX6 Nonsynonymous SNV R131Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 116568 chr1 182797915 182797915 G A NPL Nonsynonymous SNV G260S 0.003 0 0 0 3 0 0 0 0 0 0 0 33 116569 chr19 54973607 54973607 G A rs758130418 LENG9 Nonsynonymous SNV P390L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.017 116570 chr1 18807968 18807968 C T rs201860136 KLHDC7A Nonsynonymous SNV P165S 0.003 0 0 0 3 0 0 0 0 0 0 0 9.861 116571 chr19 55494852 55494852 C T rs145361990 NLRP2 Nonsynonymous SNV H574Y 0.003 0.005 0.017 0 4 2 0 5 0 0 0 0 0.002 116572 chr1 186105948 186105948 C G rs368506851 HMCN1 Nonsynonymous SNV N4487K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.077 116573 chr1 176903320 176903320 C T rs199937923 ASTN1 Nonsynonymous SNV R880Q 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 22.6 116574 chr10 102794610 102794610 C T rs140544452 SFXN3 Synonymous SNV Y57Y 0 0 0 3 0 0 0.008 0 0 0 0 0 14.58 116575 chr1 110170770 110170770 G A rs773353386 AMPD2 Synonymous SNV R361R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 116576 chr1 219385045 219385045 C A rs562438760 LYPLAL1 Nonsynonymous SNV P179Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 116577 chr1 197072548 197072548 T C rs147466865 ASPM Nonsynonymous SNV I1945V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.001 116578 chr1 198718604 198718604 G A rs145944629 PTPRC Nonsynonymous SNV D839N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 31 116579 chr1 200635618 200635618 C G rs146060105 DDX59 Nonsynonymous SNV S84T 0.009 0.013 0.003 3 11 5 0.008 1 0 0 0 0 Likely benign 12.54 116580 chr1 200635721 200635721 C G rs150913822 DDX59 Nonsynonymous SNV A50P 0.009 0.013 0.003 3 11 5 0.008 1 0 0 0 0 Likely benign 6.767 116581 chr1 20072047 20072047 C T rs143214865 TMCO4 Synonymous SNV G285G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.39 116582 chr1 201029939 201029939 T C rs34515088 CACNA1S Synonymous SNV Q1087Q 0.024 0.016 0.017 9 28 6 0.023 5 0 0 0 0 Benign 0.007 116583 chr1 180885590 180885590 A G rs190608612 KIAA1614 Synonymous SNV Q117Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.368 116584 chr1 22156041 22156041 C T rs116630187 HSPG2 Nonsynonymous SNV A3944T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 116585 chr1 180974491 180974491 G A rs200373166 STX6 Synonymous SNV N48N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 116586 chr10 88441199 88441199 G A rs768737496 LDB3 Nonsynonymous SNV A110T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.07 116587 chr1 223934762 223934762 C T rs771653698 CAPN2 Synonymous SNV T130T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.01 116588 chr19 56466067 56466067 G A rs372844411 NLRP8 Nonsynonymous SNV G215R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 116589 chr1 116225040 116225040 T C rs145309218 VANGL1 Nonsynonymous SNV Y288H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 116590 chr1 202407141 202407141 A G rs757647009 PPP1R12B Nonsynonymous SNV N483D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.06 116591 chr1 1854887 1854887 A C CFAP74 Nonsynonymous SNV F1481V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 116592 chr11 55681646 55681646 C G OR5W2 Nonsynonymous SNV S138T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 116593 chr1 117617790 117617790 A G rs745804849 TTF2 Nonsynonymous SNV K195R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.306 116594 chr10 93702243 93702243 T C rs142485255 BTAF1 Synonymous SNV F106F 0 0 0.007 0 0 0 0 2 0 0 0 0 6.28 116595 chr1 203768378 203768378 T C rs41310877 ZBED6 Synonymous SNV G576G 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 0.087 116596 chr10 95103662 95103662 C T rs201449564 MYOF Nonsynonymous SNV R1413Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 116597 chr1 1903508 1903508 C T rs568918886 CFAP74 Nonsynonymous SNV E267K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.678 116598 chr10 122664255 122664255 C T rs771733026 WDR11 Nonsynonymous SNV S1042L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 116599 chr1 19567548 19567548 C T rs766683974 EMC1 Nonsynonymous SNV V178I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 116600 chr1 205884226 205884226 C A rs34309781 SLC26A9 Nonsynonymous SNV A820S 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 2.49 116601 chr1 206319119 206319119 A G rs57621203 CTSE Nonsynonymous SNV I7V 0.014 0.013 0.01 1 16 5 0.003 3 0 0 0 0 14.74 116602 chr1 20676700 20676700 G A rs61744712 VWA5B1 Nonsynonymous SNV R977H 0.003 0 0.01 0 3 0 0 3 0 0 0 0 0.1 116603 chr1 1219456 1219456 G C rs199854533 SCNN1D Synonymous SNV G150G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.308 116604 chr1 1246373 1246373 G A rs142154083 PUSL1 Nonsynonymous SNV D285N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.6 116605 chr1 1269503 1269503 C G rs149196451 TAS1R3 Nonsynonymous SNV L740V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 14.96 116606 chr1 228471294 228471294 C T rs199933567 OBSCN Nonsynonymous SNV A2943V 0.007 0.016 0.003 4 8 6 0.01 1 0 0 0 0 Likely benign 8.425 116607 chr1 1275451 1275451 G A rs560603838 DVL1 Synonymous SNV D292D 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 2.311 116608 chr1 228505235 228505235 A G rs370547153 OBSCN Synonymous SNV A4544A 0.007 0.016 0.003 4 8 6 0.01 1 0 0 0 0 Benign 0.835 116609 chr10 126186674 126186674 G A rs199892972 LHPP Nonsynonymous SNV A201T 0 0 0 2 0 0 0.005 0 0 0 0 0 18.44 116610 chr1 1289468 1289468 C T rs374449046 MXRA8 Synonymous SNV A287A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.09 116611 chr1 209800901 209800901 A T rs2229468 LAMB3 Nonsynonymous SNV S438T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.981 116612 chr1 228596779 228596779 C A rs199722854 TRIM17 Nonsynonymous SNV G326V 0.007 0.016 0.003 4 8 6 0.01 1 0 0 0 0 4.687 116613 chr11 1016906 1016906 G T rs756911600 MUC6 Synonymous SNV P1965P 0.006 0.005 0.041 1 7 2 0.003 12 0 0 0 0 0.368 116614 chr1 144922238 144922238 T G rs144426043 PDE4DIP Synonymous SNV T473T 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 10.18 116615 chr1 209803163 209803163 C T rs114875539 LAMB3 Nonsynonymous SNV E351K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.25 116616 chr1 210856825 210856825 T G rs140939826 KCNH1 Nonsynonymous SNV Q896P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.2 116617 chr1 201187737 201187737 C T rs138429073 IGFN1 Synonymous SNV P3283P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.46 116618 chr1 201282469 201282469 G A rs34704938 PKP1 Nonsynonymous SNV C161Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 10.9 116619 chr1 231155682 231155682 C T rs141463019 FAM89A Nonsynonymous SNV R161Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 116620 chr1 210014238 210014238 G - UTP25 Y443Tfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 116621 chr1 145588914 145588914 C T rs41314015 NUDT17 Nonsynonymous SNV A112T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.878 116622 chr1 212981105 212981105 T C rs185603499 TATDN3 Nonsynonymous SNV F151S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 116623 chr1 147380403 147380403 A C rs782623142 GJA8 Nonsynonymous SNV K107N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 116624 chr1 149916630 149916632 TTC - rs587738429 OTUD7B K553del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 116625 chr1 212798816 212798816 G A rs376181642 FAM71A Synonymous SNV Q199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.422 116626 chr1 215821924 215821924 C T rs768433165 USH2A Nonsynonymous SNV R4843K 0.002 0 0 0 2 0 0 0 0 0 0 0 18.61 116627 chr1 217804767 217804767 A G rs34652544 SPATA17 Nonsynonymous SNV N16S 0.016 0.013 0.014 8 19 5 0.021 4 0 0 0 0 0.002 116628 chr1 151384847 151384847 C T POGZ Synonymous SNV A473A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 116629 chr1 151584734 151584734 - GGC rs567208173 SNX27 G25_S26insG 0.001 0 0 0 1 0 0 0 0 0 0 0 116630 chr1 151751476 151751476 T C TDRKH Nonsynonymous SNV I190V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 116631 chr1 220088800 220088800 C T rs148203711 SLC30A10 Synonymous SNV T483T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.296 116632 chr1 236176845 236176845 C T rs35714220 NID1 Nonsynonymous SNV R757H 0.014 0.016 0.027 4 17 6 0.01 8 0 0 0 0 24.5 116633 chr1 204411718 204411718 G A rs758430445 PIK3C2B Nonsynonymous SNV A1031V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 116634 chr1 236189278 236189278 C T rs16833131 NID1 Synonymous SNV S634S 0.017 0.018 0.027 6 20 7 0.015 8 0 0 0 0 19.73 116635 chr11 5067788 5067788 A G rs373544222 OR52J3 Synonymous SNV P11P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.795 116636 chr1 21904108 21904108 G T rs3200256 ALPL Synonymous SNV A437A 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Benign 5.269 116637 chr1 205053216 205053216 C T TMEM81 Nonsynonymous SNV R78H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23 116638 chr11 5173229 5173229 C T rs147169118 OR52A1 Nonsynonymous SNV R124H 0.008 0.013 0.007 6 9 5 0.015 2 0 0 0 0 31 116639 chr11 103018534 103018534 C G DYNC2H1 Nonsynonymous SNV C912W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 116640 chr1 236734755 236734755 T G HEATR1 Nonsynonymous SNV K1282Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 116641 chr1 205898454 205898454 G A rs143411715 SLC26A9 Nonsynonymous SNV H250Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 116642 chr1 237875068 237875068 C T rs138073811 RYR2 Synonymous SNV N3418N 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 Benign/Likely benign 14.11 116643 chr11 105769142 105769142 A G GRIA4 Nonsynonymous SNV T292A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 116644 chr1 237955559 237955559 G A rs371157286 RYR2 Nonsynonymous SNV R4573H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 29.6 116645 chr1 225463664 225463664 G A rs139192897 DNAH14 Nonsynonymous SNV D2687N 0.008 0.018 0.014 2 9 7 0.005 4 0 0 0 0 21.6 116646 chr1 223177892 223177892 C T rs111796312 DISP1 Synonymous SNV D1051D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.38 116647 chr1 24120419 24120419 C T rs199916153 LYPLA2 Synonymous SNV N98N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.57 116648 chr1 154920774 154920774 G A rs144466282 PBXIP1 Nonsynonymous SNV R5W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 116649 chr11 57263554 57263554 G T rs374920802 SLC43A1 Synonymous SNV T214T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.688 116650 chr1 15615990 15615990 T C rs200337988 FHAD1 Synonymous SNV H132H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.04 116651 chr1 226827337 226827337 C T rs755294781 ITPKB Nonsynonymous SNV R825Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 116652 chr11 58480294 58480294 G T rs137908036 GLYAT Nonsynonymous SNV N85K 0.01 0.003 0.003 0 12 1 0 1 0 0 0 0 0.014 116653 chr1 245862232 245862232 G A rs199933797 KIF26B Nonsynonymous SNV R2024H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 116654 chr11 58480295 58480295 T G rs142339923 GLYAT Nonsynonymous SNV N85T 0.01 0.003 0.003 0 12 1 0 1 0 0 0 0 6.36 116655 chr1 156552848 156552848 C T TTC24 Nonsynonymous SNV R309W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 116656 chr1 246922356 246922356 G A rs151266325 SCCPDH Nonsynonymous SNV R239Q 0.007 0.008 0.003 7 8 3 0.018 1 0 0 0 0 20 116657 chr11 59245485 59245485 C T rs748010090 OR4D10 Nonsynonymous SNV L195F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.619 116658 chr11 116701354 116701354 G A rs138326449 APOC3 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Pathogenic, protective 25.1 116659 chr11 117042408 117042408 C T rs186808413 PAFAH1B2 Nonsynonymous SNV S161L 0.005 0.008 0.017 2 6 3 0.005 5 0 0 0 0 10.83 116660 chr1 156851377 156851377 C T rs370504033 NTRK1 Synonymous SNV H772H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 7.202 116661 chr1 228464232 228464232 C T rs555298668 OBSCN Nonsynonymous SNV S2101L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 116662 chr11 117787903 117787903 C T TMPRSS13 Nonsynonymous SNV V180I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 116663 chr1 157490249 157490249 C G rs897430549 FCRL5 Synonymous SNV L868L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.711 116664 chr1 230372117 230372117 G A rs34897003 GALNT2 Synonymous SNV P126P 0.007 0.005 0.02 5 8 2 0.013 6 0 0 0 0 Benign 11.53 116665 chr1 158059369 158059369 C T rs867471177 KIRREL1 Synonymous SNV I274I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.85 116666 chr1 158576743 158576743 A G rs753378500 OR10Z1 Nonsynonymous SNV H172R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 116667 chr11 61133649 61133649 G A rs35245221 TMEM138 Synonymous SNV V29V 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 Benign 11.04 116668 chr1 158747278 158747278 G A rs374518057 OR6N2 Stop gain R50X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 116669 chr1 15909791 15909791 T C rs147927910 AGMAT Synonymous SNV L124L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.235 116670 chr1 235647783 235647783 G A rs140393851 B3GALNT2 Nonsynonymous SNV S137L 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 Uncertain significance 14.29 116671 chr1 248309107 248309107 C G rs41305578 OR2M5 Nonsynonymous SNV R220G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.542 116672 chr19 8657025 8657025 G A rs73922162 ADAMTS10 Nonsynonymous SNV R8W 0.018 0.016 0.014 3 21 6 0.008 4 0 0 0 0 8.483 116673 chr1 233394479 233394479 C T rs200242011 PCNX2 Nonsynonymous SNV V377I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 116674 chr11 12246355 12246355 G A rs35387130 MICAL2 Nonsynonymous SNV R559Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 34 116675 chr1 23419369 23419369 G A LUZP1 Synonymous SNV S462S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.649 116676 chr1 225465206 225465206 T C rs941871160 DNAH14 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 21.7 116677 chr1 235969406 235969406 T C rs751511204 LYST Synonymous SNV G1010G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.083 116678 chr1 225707033 225707033 - TCCAGGCGTTCCTGCCGC ENAH L222_D223insERQERL 0.005 0.013 0.003 2 6 5 0.005 1 0 0 0 0 116679 chr1 226109270 226109270 G A rs55803945 PYCR2 Synonymous SNV L131L 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 Likely benign 10.33 116680 chr1 161695666 161695666 C T rs35126350 FCRLB Synonymous SNV V114V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 17.35 116681 chr11 63713395 63713395 C T rs60725842 NAA40 Synonymous SNV D9D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 116682 chr11 123777546 123777546 G C rs117766872 OR8D4 Nonsynonymous SNV M136I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.9 116683 chr1 101387320 101387320 C T rs116147939 SLC30A7 Synonymous SNV A255A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 15.33 116684 chr1 23761072 23761072 C T rs769875873 ASAP3 Nonsynonymous SNV A588T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 116685 chr1 23762465 23762465 C T rs148195646 ASAP3 Nonsynonymous SNV R534Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 116686 chr11 1081421 1081421 C T rs181019515 MUC2 Nonsynonymous SNV A480V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 116687 chr1 26299050 26299050 G A rs35020920 PAFAH2 Synonymous SNV L361L 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 1.628 116688 chr1 238045744 238045744 C A ZP4 Nonsynonymous SNV C534F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 116689 chr1 16332563 16332563 A G rs201525387 SRARP Nonsynonymous SNV M78V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.229 116690 chr11 1098756 1098756 G A rs200767028 MUC2 Nonsynonymous SNV A2376T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.72 116691 chr1 236729999 236729999 G C rs138927825 HEATR1 Nonsynonymous SNV L1419V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 116692 chr11 123894397 123894397 G T rs139365025 OR10G9 Synonymous SNV R226R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.123 116693 chr11 123894455 123894455 G C rs117973239 OR10G9 Nonsynonymous SNV V246L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 116694 chr1 26627423 26627423 G A rs141351708 UBXN11 Nonsynonymous SNV R65W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 116695 chr1 228464306 228464306 G C rs762928369 OBSCN Nonsynonymous SNV V2126L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 116696 chr1 24124198 24124198 C T GALE Nonsynonymous SNV C172Y 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.3 116697 chr1 241799058 241799058 T C rs112169514 CHML Nonsynonymous SNV N4S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 116698 chr11 64985107 64985107 G A rs146240427 SLC22A20P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 19.21 116699 chr1 27699991 27699991 G A rs146535239 FCN3 Nonsynonymous SNV R85W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.93 116700 chr1 24397682 24397682 C T MYOM3 Stop gain W1025X 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 46 116701 chr11 12530156 12530156 G A rs765042412 PARVA Nonsynonymous SNV R228Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 116702 chr1 169698643 169698643 T G rs41272475 SELE Nonsynonymous SNV K296T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.029 116703 chr1 169822088 169822088 G C rs41308405 C1orf112 Nonsynonymous SNV R518T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.936 116704 chr1 31712386 31712386 C G rs1018878038 NKAIN1 Nonsynonymous SNV K3N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 116705 chr19 9091338 9091338 A G rs374175032 MUC16 Synonymous SNV T159T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.051 116706 chr1 17295771 17295771 G A rs139786167 CROCC Nonsynonymous SNV R1746Q 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 15.99 116707 chr11 67235039 67235039 G A rs148089695 TMEM134 Nonsynonymous SNV R88C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 116708 chr1 234895688 234895688 C T rs535827034 PP2672 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.689 116709 chr1 247875313 247875313 G A rs61730474 OR6F1 Nonsynonymous SNV L249F 0.004 0.003 0.017 3 5 1 0.008 5 0 0 0 0 1.726 116710 chr11 67290042 67290042 C T rs149431491 CABP2 Nonsynonymous SNV G68S 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 25 116711 chr11 130339220 130339220 G A rs149341964 ADAMTS15 Nonsynonymous SNV V536M 0.004 0 0.007 0 5 0 0 2 0 0 0 0 31 116712 chr1 3638767 3638767 C T rs61747512 TP73 Synonymous SNV N155N 0.005 0.01 0.024 1 6 4 0.003 7 0 0 0 0 16.98 116713 chr1 176903312 176903312 G A rs140080605 ASTN1 Synonymous SNV L883L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.46 116714 chr1 177245369 177245369 C T rs145109858 BRINP2 Nonsynonymous SNV R271C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 116715 chr1 117122064 117122064 C T rs144889330 IGSF3 Nonsynonymous SNV R1095Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 116716 chr11 134212681 134212681 C T rs761153992 GLB1L2 Synonymous SNV L40L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.665 116717 chr1 248112521 248112521 G A rs148005952 OR2L8 Nonsynonymous SNV R121H 0.003 0 0 0 3 0 0 0 0 0 0 0 17.8 116718 chr1 248367274 248367274 T C rs149041201 OR2M3 Nonsynonymous SNV M302T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 116719 chr11 72005479 72005479 G A rs200299650 CLPB Nonsynonymous SNV R495W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 116720 chr1 26075748 26075748 C T rs116009723 MAN1C1 Synonymous SNV S252S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 11.8 116721 chr1 26161828 26161828 G A rs757968942 AUNIP Nonsynonymous SNV P244S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.61 116722 chr1 183212479 183212479 A G rs374905927 LAMC2 Nonsynonymous SNV I1176V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 116723 chr1 183212499 183212499 A G rs41314547 LAMC2 Synonymous SNV P1182P 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.401 116724 chr11 5373363 5373363 T A rs752824600 OR51B6 Nonsynonymous SNV F209Y 0 0 0 2 0 0 0.005 0 0 0 0 0 1.636 116725 chr1 2489200 2489200 C T rs2234158 TNFRSF14 Synonymous SNV Y35Y 0.011 0.005 0.003 3 13 2 0.008 1 1 0 0 0 6.142 116726 chr1 2491305 2491305 C T rs2234162 TNFRSF14 Synonymous SNV N116N 0.011 0.005 0.003 3 13 2 0.008 1 1 0 0 0 not provided 9.056 116727 chr1 111857943 111857943 A C rs750204591 CHIA Synonymous SNV S14S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.003 116728 chr1 28282555 28282555 C T rs368252544 SMPDL3B Nonsynonymous SNV R323W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 116729 chr11 22294441 22294441 C G rs200631556 ANO5 Nonsynonymous SNV T713S 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Uncertain significance 23.2 116730 chr1 2704112 2704112 T C rs56328393 TTC34 Synonymous SNV A596A 0.018 0.008 0.003 8 21 3 0.021 1 2 0 0 1 0.01 116731 chr1 28857122 28857122 G C rs780561548 RCC1 Nonsynonymous SNV R54P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 116732 chr1 116287503 116287503 T C rs368650614 CASQ2 Nonsynonymous SNV I89V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.64 116733 chr1 29609327 29609327 G A rs151313946 PTPRU Nonsynonymous SNV A670T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 116734 chr1 248309153 248309153 G A rs145157861 OR2M5 Nonsynonymous SNV R235H 0.001 0.013 0 0 1 5 0 0 0 0 0 0 15.29 116735 chr1 31656764 31656764 C G rs141110311 NKAIN1 Nonsynonymous SNV R124P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 116736 chr1 197099142 197099142 G A rs141716537 ASPM Synonymous SNV V844V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.11 116737 chr1 152084392 152084392 - GCCTCTCCTCCTCCTGCTCGC TCHH R433_H434insREQEEER 0.002 0.003 0 0 2 1 0 0 0 0 0 0 116738 chr1 33065830 33065830 T C rs142604487 ZBTB8A Nonsynonymous SNV I379T 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 10.52 116739 chr1 201016695 201016695 T C rs373248127 CACNA1S Nonsynonymous SNV T1501A 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 26.7 116740 chr1 152681680 152681680 - AGCTCTGGGGGATGCTGT LCE4A C48_G49insCSSGGC 0.003 0 0 0 4 0 0 0 0 0 0 0 116741 chr11 33360344 33360344 A G HIPK3 Synonymous SNV K461K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.232 116742 chr11 33565520 33565520 C G rs56089511 KIAA1549L Nonsynonymous SNV T804R 0.01 0.013 0.014 6 12 5 0.015 4 0 0 0 0 0.004 116743 chr1 54360178 54360178 C T rs144654417 DIO1 Nonsynonymous SNV R99C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.76 116744 chr1 3789100 3789100 G A DFFB Nonsynonymous SNV S273N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 116745 chr1 54605583 54605583 C T rs149351262 CDCP2 Synonymous SNV A320A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.49 116746 chr1 54670784 54670784 T C rs142769241 MRPL37 Nonsynonymous SNV I147T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 19.79 116747 chr11 34182625 34182625 A G rs913188336 ABTB2 Nonsynonymous SNV V741A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.5 116748 chr1 153270498 153270498 G A rs775325906 PGLYRP3 Synonymous SNV V320V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.87 116749 chr1 55118679 55118679 C T rs769736721 MROH7 Nonsynonymous SNV P27L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.13 116750 chr11 34988294 34988294 C T rs146876119 PDHX Nonsynonymous SNV T235I 0.003 0.021 0.007 0 3 8 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.21 116751 chr1 12378337 12378337 C T rs763267940 VPS13D Nonsynonymous SNV R2453W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 116752 chr1 35658549 35658549 C T SFPQ Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 21 116753 chr1 40433552 40433552 C G rs199769368 MFSD2A Nonsynonymous SNV A235G 0.003 0 0 0 4 0 0 0 0 0 0 0 32 116754 chr1 36748248 36748248 G A rs200942337 THRAP3 Synonymous SNV S28S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 116755 chr1 57002627 57002627 C T rs1136164 PLPP3 Synonymous SNV A99A 0.019 0.013 0.014 7 22 5 0.018 4 3 0 0 0 19.87 116756 chr1 201779677 201779677 C T rs150946974 NAV1 Synonymous SNV L1136L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.02 116757 chr1 201860623 201860623 C T rs140214802 SHISA4 Synonymous SNV F158F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.98 116758 chr1 154493815 154493830 CTGGGCTCCATGCAGA - TDRD10 L77Kfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 116759 chr1 40735713 40735713 G A rs145639744 ZMPSTE24 Nonsynonymous SNV V181M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 116760 chr1 26898363 26898363 T C rs146788594 RPS6KA1 Synonymous SNV D601D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.078 116761 chr1 6012770 6012770 T A rs201124357 NPHP4 Nonsynonymous SNV H267L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.35 116762 chr1 40131787 40131787 T C rs200056964 NT5C1A Nonsynonymous SNV H86R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.92 116763 chr11 111747563 111747563 C T FDXACB1 Nonsynonymous SNV A168T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.191 116764 chr1 43880857 43880857 G A SZT2 Synonymous SNV L201L 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 10.29 116765 chr1 203816454 203816454 A G ZC3H11A Synonymous SNV A395A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.675 116766 chr1 40961188 40961188 T C rs143836667 ZFP69 Synonymous SNV H347H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.122 116767 chr1 31905938 31905938 G C SERINC2 Nonsynonymous SNV E384Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 116768 chr1 44606098 44606098 G A KLF18 Synonymous SNV Y402Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.268 116769 chr11 113563827 113563827 G A TMPRSS5 Synonymous SNV A197A 0.003 0 0 0 4 0 0 0 0 0 0 0 4.908 116770 chr11 113610003 113610003 C T rs61762985 ZW10 Nonsynonymous SNV R562H 0.003 0 0 0 4 0 0 0 0 0 0 0 18.84 116771 chr11 116746135 116746135 G A rs139407006 SIK3 Synonymous SNV S376S 0.009 0.013 0 3 10 5 0.008 0 0 0 0 0 15.77 116772 chr1 6637066 6637066 G A rs375222151 TAS1R1 Synonymous SNV T256T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.05 116773 chr1 36785949 36785949 G A rs761908342 SH3D21 Nonsynonymous SNV R451H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 116774 chr1 209785273 209785273 C T rs138637491 CAMK1G Nonsynonymous SNV P351L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.5 116775 chr1 72241914 72241914 G C NEGR1 Nonsynonymous SNV T159S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.93 116776 chr1 3809520 3809520 C T rs79466209 C1orf174 Nonsynonymous SNV R19Q 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.1 116777 chr11 118771747 118771747 A G rs34123504 BCL9L Nonsynonymous SNV V902A 0.01 0.008 0.014 1 12 3 0.003 4 0 0 0 0 Benign 1.33 116778 chr11 118772516 118772516 T C rs34752197 BCL9L Nonsynonymous SNV M646V 0.01 0.008 0.014 1 12 3 0.003 4 0 0 0 0 Benign 0.003 116779 chr11 118772825 118772825 T C rs78780803 BCL9L Nonsynonymous SNV S543G 0.01 0.008 0.014 1 12 3 0.003 4 0 0 0 0 Benign 0.107 116780 chr11 118773180 118773180 G A rs75656086 BCL9L Synonymous SNV S424S 0.009 0.008 0.014 1 11 3 0.003 4 0 0 0 0 Benign 0.061 116781 chr1 40036943 40036943 C T PABPC4 Nonsynonymous SNV E156K 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 24.1 116782 chr1 47652990 47652990 C T rs150502884 PDZK1IP1 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 116783 chr11 17097013 17097013 C T rs375823183 RPS13 Synonymous SNV E103E 0 0 0 2 0 0 0.005 0 0 0 0 0 14.05 116784 chr1 213414102 213414102 T A rs376486080 RPS6KC1 Nonsynonymous SNV F131Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.63 116785 chr1 155160813 155160813 G C rs149945265 MUC1 Nonsynonymous SNV H449Q 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 7.475 116786 chr1 6185608 6185608 G A rs61749270 CHD5 Synonymous SNV L1412L 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 12.9 116787 chr1 216424400 216424400 C T rs758103670 USH2A Nonsynonymous SNV R671K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 116788 chr1 54060342 54060342 G A rs146521882 GLIS1 Synonymous SNV S78S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.694 116789 chr1 54605319 54605319 - GC CDCP2 Frameshift insertion M409Pfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 116790 chr1 54605442 54605442 A G rs140333202 CDCP2 Synonymous SNV S367S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.063 116791 chr1 22084201 22084201 A G rs150521027 USP48 Synonymous SNV N70N 0.003 0 0 0 4 0 0 0 0 0 0 0 10.06 116792 chr1 43895994 43895994 C T rs775105626 SZT2 Nonsynonymous SNV R1415W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 31 116793 chr1 22161394 22161394 C T rs143543800 HSPG2 Nonsynonymous SNV V3501M 0.02 0.013 0.007 1 23 5 0.003 2 0 0 0 0 Benign/Likely benign 28.7 116794 chr1 156617860 156617860 G A rs746726772 BCAN Nonsynonymous SNV D243N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.29 116795 chr1 44446798 44446798 C T rs141394710 B4GALT2 Nonsynonymous SNV P18L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 116796 chr11 5248159 5248159 C T rs33971440 HBB 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 27.7 116797 chr1 45793578 45793578 G C HPDL Nonsynonymous SNV G253A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 116798 chr11 20065813 20065813 G T rs147773518 NAV2 Nonsynonymous SNV G151V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.3 116799 chr1 45974838 45974838 G A rs765822392 MMACHC Nonsynonymous SNV R210Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.75 116800 chr11 124508547 124508547 A G rs201877149 SIAE Nonsynonymous SNV F404S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 risk factor 25.1 116801 chr11 20515764 20515764 G C rs200273283 PRMT3 Nonsynonymous SNV V422L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.684 116802 chr1 223402618 223402618 G A rs370115906 SUSD4 Synonymous SNV S279S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 116803 chr1 165175138 165175138 G A rs35130714 LMX1A Synonymous SNV T317T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.71 116804 chr1 224495925 224495925 C T rs149707008 NVL Nonsynonymous SNV R22Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 116805 chr1 158299688 158299688 A T rs142807777 CD1B Stop gain Y187X 0.011 0.013 0 2 13 5 0.005 0 0 0 0 0 35 116806 chr1 91403290 91403290 A G rs138567555 ZNF644 Nonsynonymous SNV L1147P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.9 116807 chr1 1691176 1691176 T G rs143521678 NADK Nonsynonymous SNV E143D 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 0.002 116808 chr11 126432744 126432744 C T rs763906945 KIRREL3 Nonsynonymous SNV R40Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29 116809 chr1 63063623 63063623 A G rs751759402 ANGPTL3 Nonsynonymous SNV E129G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.44 116810 chr1 7724727 7724727 C G rs141259598 CAMTA1 Nonsynonymous SNV S677C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 24.3 116811 chr1 49511335 49511335 G A rs755354191 AGBL4 Nonsynonymous SNV T184I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 116812 chr1 52272578 52272578 G A rs41293255 NRDC Synonymous SNV D666D 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 4.469 116813 chr1 52854891 52854891 A G rs777555692 ORC1 Synonymous SNV L395L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.88 116814 chr1 227076719 227076719 G C rs147702142 PSEN2 Synonymous SNV A252A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 12.42 116815 chr1 53373560 53373560 C T rs111794011 ECHDC2 Nonsynonymous SNV R115Q 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 33 116816 chr11 56019862 56019862 G C OR5T3 Nonsynonymous SNV A63P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.557 116817 chr1 227921253 227921253 G A rs150323583 JMJD4 Synonymous SNV Y274Y 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Benign 0.061 116818 chr1 79412096 79412096 C T rs185392778 ADGRL4 Nonsynonymous SNV G63E 0.003 0 0 0 3 0 0 0 0 0 0 0 8.55 116819 chr1 94473807 94473807 C T rs1800553 ABCA4 Nonsynonymous SNV G1961E 0.009 0.005 0.017 2 11 2 0.005 5 0 0 0 0 Pathogenic/Likely pathogenic 33 116820 chr1 6635448 6635448 G A rs140193828 TAS1R1 Stop gain W419X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 38 116821 chr1 227954689 227954689 C T rs78405690 SNAP47 Nonsynonymous SNV R340C 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.66 116822 chr11 62592023 62592023 C G rs531466952 STX5 Nonsynonymous SNV V232L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.322 116823 chr1 228459858 228459858 G A rs201517908 OBSCN Synonymous SNV A1974A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.743 116824 chr1 74492592 74492592 C A rs755931183 LRRIQ3 Stop gain E594X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 116825 chr11 63312262 63312262 G A rs200737005 PLAAT4 Synonymous SNV A96A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.905 116826 chr1 176175819 176175819 A C rs150935097 COP1 Nonsynonymous SNV V99G 0.009 0.003 0.024 8 11 1 0.021 7 0 0 0 1 10.66 116827 chr1 86916346 86916346 C G rs778738571 CLCA2 Synonymous SNV P695P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.379 116828 chr12 1995145 1995145 G A rs747489303 CACNA2D4 Stop gain R352X 0.007 0.003 0 0 8 1 0 0 0 0 0 0 39 116829 chr11 47644269 47644269 C T rs146359770 MTCH2 Nonsynonymous SNV C261Y 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 23 116830 chr1 230805134 230805134 G A rs150261948 COG2 Synonymous SNV Q209Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 10.15 116831 chr11 48346595 48346595 A - rs753794227 OR4C3 T8Qfs*24 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 116832 chr1 179853837 179853837 A G TOR1AIP1 Synonymous SNV A162A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.443 116833 chr11 64781670 64781670 T C rs112166431 ARL2-SNX15 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 17.33 116834 chr11 57311370 57311370 C T rs575326752 SMTNL1 Synonymous SNV S298S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 116835 chr1 233511776 233511776 C T rs34984140 MAP3K21 Nonsynonymous SNV S597F 0.013 0.003 0.01 2 15 1 0.005 3 0 0 0 0 32 116836 chr1 233514836 233514836 C T rs202108267 MAP3K21 Nonsynonymous SNV A695V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.549 116837 chr1 169564040 169564040 T C rs754086574 SELP Nonsynonymous SNV Y726C 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 24.8 116838 chr1 180914538 180914538 C T rs149708476 KIAA1614 Synonymous SNV D1129D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.87 116839 chr1 171492641 171492641 C G rs36013361 PRRC2C Nonsynonymous SNV N343K 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 12.03 116840 chr1 234745133 234745133 G A rs148268022 IRF2BP2 Synonymous SNV V36V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.181 116841 chr1 91967342 91967342 G A rs56296843 CDC7 Synonymous SNV Q23Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.167 116842 chr1 235938326 235938326 A C rs531587890 LYST Nonsynonymous SNV L1841V 0.003 0 0 0 4 0 0 0 0 0 0 0 22 116843 chr1 236415381 236415381 G A rs758392975 ERO1B Nonsynonymous SNV P106L 0.003 0 0 0 3 0 0 0 1 0 0 0 26.5 116844 chr1 9323767 9323767 C T rs574364535 H6PD Synonymous SNV G416G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.799 116845 chr1 67266794 67266794 G A rs766779218 INSL5 Synonymous SNV V37V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.295 116846 chr20 2542550 2542550 G A rs147445951 TMC2 Nonsynonymous SNV E150K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 116847 chr1 67568938 67568938 T A rs182783858 C1orf141 Nonsynonymous SNV D181V 0.007 0.008 0.007 6 8 3 0.015 2 0 0 0 0 10.76 116848 chr20 2605035 2605035 C T rs115578540 TMC2 Synonymous SNV L767L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.81 116849 chr1 185939523 185939523 T C HMCN1 Synonymous SNV L757L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.049 116850 chr11 607902 607902 C G rs754994881 PHRF1 Nonsynonymous SNV L816V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 116851 chr1 24417416 24417416 G A rs767893294 MYOM3 Stop gain Q435X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 116852 chr1 197030915 197030915 A G F13B Synonymous SNV H150H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.994 116853 chr20 33501271 33501271 C T rs112012777 ACSS2 Nonsynonymous SNV A181V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 116854 chr1 246890298 246890298 G A rs201201896 SCCPDH Nonsynonymous SNV V99I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 116855 chr20 34519240 34519240 C A rs768325239 PHF20 Nonsynonymous SNV A725E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 116856 chr1 85592280 85592280 C T rs140671433 WDR63 Synonymous SNV I694I 0.01 0.01 0.01 2 12 4 0.005 3 0 0 0 0 Benign 18.25 116857 chr1 86173760 86173760 C T ZNHIT6 Nonsynonymous SNV E70K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 116858 chr1 86250039 86250039 C A rs536864422 COL24A1 Nonsynonymous SNV G657V 0.004 0.008 0 2 5 3 0.005 0 1 0 0 0 26 116859 chr20 3726664 3726664 G A rs61734308 HSPA12B Nonsynonymous SNV E135K 0.005 0.01 0.007 3 6 4 0.008 2 0 0 0 0 23.6 116860 chr11 63327651 63327651 C T rs140325550 PLAAT2 Synonymous SNV P8P 0.004 0.01 0.01 7 5 4 0.018 3 0 0 0 0 9.877 116861 chr11 74880370 74880370 G A rs35199625 SLCO2B1 Nonsynonymous SNV V57M 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 25.1 116862 chr20 23065376 23065378 TCC - rs556056799 CD93 E484del 0.005 0 0 0 6 0 0 0 0 0 0 0 116863 chr20 402851 402851 C T rs143194967 RBCK1 Nonsynonymous SNV S163L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.3 116864 chr11 64116845 64116845 C T rs149017597 CCDC88B Nonsynonymous SNV R887W 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 33 116865 chr1 20304989 20304989 C T PLA2G2A Synonymous SNV V23V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.933 116866 chr20 30227767 30227767 C T rs61759491 COX4I2 Synonymous SNV T38T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.968 116867 chr20 43852067 43852067 G A rs751888613 SEMG2 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 116868 chr20 21284366 21284366 T C XRN2 Nonsynonymous SNV S64P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.4 116869 chr11 65123315 65123315 G A rs780430673 TIGD3 Synonymous SNV L12L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 116870 chr12 30809648 30809648 T C rs34119940 IPO8 Nonsynonymous SNV I435V 0.008 0.005 0.014 8 9 2 0.021 4 1 0 0 1 5.975 116871 chr11 65211979 65211979 G A rs12803915 MIR612, NEAT1 0 0 0.15 0 0 0 0 44 0 0 4 0 8.512 116872 chr11 65212122 65212122 C T rs3825071 NEAT1 0 0 0.112 0 0 0 0 33 0 0 4 0 8.329 116873 chr11 86152362 86152362 A G ME3 Nonsynonymous SNV Y592H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 116874 chr20 25271173 25271173 C T rs201261056 PYGB Synonymous SNV G628G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 116875 chr20 25478980 25478980 G A rs374453739 NINL Synonymous SNV S345S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.8 116876 chr20 33714148 33714148 C T rs148170838 EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV R255H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 116877 chr20 33879884 33879884 G A rs377376837 FAM83C Nonsynonymous SNV A75V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 116878 chr11 88911748 88911748 T C rs770317561 TYR Synonymous SNV P209P 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 Likely benign 0.016 116879 chr11 92533057 92533057 A G rs16918105 FAT3 Nonsynonymous SNV N2293S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.226 116880 chr20 35696427 35696427 A G rs374932058 RBL1 Synonymous SNV Y151Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 116881 chr11 93430425 93430425 C G rs117405490 CEP295 Nonsynonymous SNV P783A 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 10.7 116882 chr12 42862625 42862625 A C rs35731866 PRICKLE1 Nonsynonymous SNV L131V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 0.013 116883 chr11 65792838 65792838 G C CATSPER1 Nonsynonymous SNV A338G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 116884 chr11 65826487 65826487 T A SF3B2 Nonsynonymous SNV F385I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 116885 chr20 31505124 31505124 C T EFCAB8 Nonsynonymous SNV P625L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.329 116886 chr20 52193032 52193032 C T rs56268939 ZNF217 Synonymous SNV P757P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 13.34 116887 chr20 52193523 52193523 G T rs745786324 ZNF217 Nonsynonymous SNV P594T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.23 116888 chr20 52570052 52570052 C T rs61333971 BCAS1 Synonymous SNV T441T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.15 116889 chr11 66192144 66192144 C T rs749883401 NPAS4 Nonsynonymous SNV R385W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 116890 chr1 26658066 26658066 T C rs767061429 CRYBG2 Nonsynonymous SNV I1410V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.695 116891 chr11 66612371 66612371 C T RCE1 Synonymous SNV D57D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.852 116892 chr1 203766938 203766938 A T rs548235524 ZBED6 Synonymous SNV A96A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.158 116893 chr11 67075704 67075704 C T rs374942490 SSH3 Synonymous SNV I315I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 116894 chr20 32268196 32268196 A G E2F1 Synonymous SNV T96T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.846 116895 chr11 102449808 102449808 C G rs61753770 MMP20 Nonsynonymous SNV G438A 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 116896 chr20 34458924 34458924 T C PHF20 Nonsynonymous SNV S324P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.36 116897 chr11 68201223 68201223 C T rs772148405 LRP5 Nonsynonymous SNV A725V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 116898 chr20 3673643 3673643 G A rs146007898 SIGLEC1 Nonsynonymous SNV S1215L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 116899 chr20 43681802 43681802 G A rs370015490 STK4 Nonsynonymous SNV A461T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 116900 chr1 21605919 21605919 G A ECE1 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.124 116901 chr11 103091449 103091449 A G rs137853027 DYNC2H1 Nonsynonymous SNV D3015G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 116902 chr11 70185381 70185381 G A rs750088810 PPFIA1 Nonsynonymous SNV R559Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 116903 chr1 33429993 33430013 CTCCGCCGCCGCCGCCGCGGC - RNF19B A92_E98del 0.001 0 0 0 1 0 0 0 0 0 0 0 116904 chr11 70710049 70710049 G A rs113305784 SHANK2-AS3 0 0 0.007 0 0 0 0 2 0 0 0 0 2.69 116905 chr20 45188740 45188740 G A SLC13A3 Nonsynonymous SNV P527L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 116906 chr20 39798770 39798770 A G PLCG1 Nonsynonymous SNV K890R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 116907 chr20 23016837 23016837 C T rs766158938 SSTR4 Synonymous SNV R239R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 14.99 116908 chr20 61443809 61443809 G A rs200108407 OGFR Nonsynonymous SNV R281H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 116909 chr1 210637924 210637924 T C rs200901586 HHAT Nonsynonymous SNV M174T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 16.71 116910 chr20 48273133 48273133 G A rs1802161 B4GALT5 Synonymous SNV A74A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.71 116911 chr1 211654523 211654523 A G rs35937732 RD3 Synonymous SNV L79L 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 8.289 116912 chr1 211654674 211654674 C T rs61740158 RD3 Synonymous SNV T28T 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 15.19 116913 chr1 211654689 211654689 C G rs34422496 RD3 Nonsynonymous SNV E23D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 12.25 116914 chr1 211654742 211654742 A G rs35649846 RD3 Nonsynonymous SNV W6R 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 12.35 116915 chr20 48770156 48770156 A C rs2026757 TMEM189, TMEM189-UBE2V1 Nonsynonymous SNV W7G 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 0.893 116916 chr1 212459455 212459457 GTC - rs748947714 PPP2R5A S5del 0.004 0 0 0 5 0 0 0 0 0 0 0 116917 chr20 44333226 44333226 C T rs770984791 WFDC13 Nonsynonymous SNV R78C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 116918 chr20 49191191 49191191 A G rs35414863 PTPN1 Synonymous SNV T91T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.157 116919 chr20 25604532 25604532 A G NANP Nonsynonymous SNV I18T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25 116920 chr11 75431070 75431070 T C rs765170966 MOGAT2 Nonsynonymous SNV L42P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 116921 chr11 76391289 76391289 - TTT rs138890667 GUCY2EP 0 0 0.007 0 0 0 0 2 0 0 0 0 116922 chr1 40766923 40766923 G A rs2229826 COL9A2 Synonymous SNV A667A 0.009 0.01 0.01 6 10 4 0.015 3 0 0 0 0 Benign 17.64 116923 chr1 226259213 226259213 A - rs34523945 H3F3AP4 0.021 0.029 0.02 9 25 11 0.023 6 5 4 2 2 116924 chr20 57599303 57599303 C T rs35565630 TUBB1 Nonsynonymous SNV T274M 0.027 0.005 0.031 13 32 2 0.033 9 1 0 0 0 23.2 116925 chr1 43649406 43649406 G A CFAP57 Nonsynonymous SNV A207T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.344 116926 chr11 78523251 78523251 C T rs370767956 TENM4 Nonsynonymous SNV D632N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 116927 chr1 45671585 45671585 G T ZSWIM5 Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 116928 chr1 45811663 45811663 C T rs192298497 TESK2 Nonsynonymous SNV D212N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.3 116929 chr1 45961104 45961104 A G rs142543793 CCDC163 Nonsynonymous SNV F126L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.07 116930 chr1 230914757 230914757 T C rs745922166 CAPN9 Nonsynonymous SNV V268A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 116931 chr12 56625202 56625202 C T rs201565086 SLC39A5 Synonymous SNV G48G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.6 116932 chr20 60893538 60893538 C T rs144740011 LAMA5 Nonsynonymous SNV R2404H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.7 116933 chr1 225237950 225237950 A G rs78320839 DNAH14 Nonsynonymous SNV I651V 0.011 0.003 0.003 2 13 1 0.005 1 0 0 0 0 0.004 116934 chr11 88241597 88241597 C G rs566277 GRM5-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 0.079 116935 chr11 9116501 9116501 G A rs186708856 KRT8P41 0 0 0.007 0 0 0 0 2 0 0 0 0 11.66 116936 chr21 33719580 33719580 C G rs534480933 URB1 Nonsynonymous SNV G1185R 0.006 0.016 0.003 3 7 6 0.008 1 0 0 0 0 28.3 116937 chr11 93844970 93844970 G A rs118037969 HEPHL1 Synonymous SNV T1130T 0.009 0.016 0.02 4 10 6 0.01 6 0 0 0 0 5.401 116938 chr12 62938748 62938748 G T rs140799300 MON2 Nonsynonymous SNV G846V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 23.9 116939 chr1 52734283 52734283 T C ZFYVE9 Synonymous SNV T809T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.66 116940 chr11 94199710 94199710 C T rs11020790 MIR548L 0 0 0.054 0 0 0 0 16 0 0 1 0 6.732 116941 chr11 94199721 94199721 G A rs13447640 MIR548L 0 0 0.054 0 0 0 0 16 0 0 1 0 0.076 116942 chr11 94322358 94322358 G A rs149372122 PIWIL4 Nonsynonymous SNV R329Q 0.01 0.008 0.017 4 12 3 0.01 5 0 0 0 0 23 116943 chr12 64895141 64895141 C T rs185524052 TBK1 Nonsynonymous SNV R724C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 116944 chr20 61937383 61937383 G A rs753687570 COL20A1 Nonsynonymous SNV R163H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 11.82 116945 chr11 9595956 9595956 C T rs562855683 WEE1 Nonsynonymous SNV A159V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.71 116946 chr1 54483833 54483833 G T rs181381692 LDLRAD1 Nonsynonymous SNV A6D 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 0.985 116947 chr21 35791837 35791837 A G SMIM34A Synonymous SNV N33N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.04 116948 chr11 130060512 130060512 G A rs79231580 ST14 Synonymous SNV A266A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.034 116949 chr11 64953448 64953448 G A rs199993600 CAPN1 Nonsynonymous SNV G173R 0.009 0.003 0 6 10 1 0.015 0 0 0 0 0 34 116950 chr21 38117397 38117397 G A rs148338000 SIM2 Synonymous SNV P512P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.843 116951 chr11 65351076 65351076 A G rs758493069 EHBP1L1 Nonsynonymous SNV E978G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.6 116952 chr1 241767722 241767722 C G rs41304028 OPN3 Nonsynonymous SNV R178T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.8 116953 chr1 57209866 57209866 C T rs762167190 FYB2 Synonymous SNV S487S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 116954 chr21 42717617 42717617 A T rs370579027 FAM3B Synonymous SNV V69V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.558 116955 chr11 65617022 65617022 G A rs749523628 SNX32 Nonsynonymous SNV R37Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.3 116956 chr12 102471101 102471101 T C NUP37 Nonsynonymous SNV S241G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 116957 chr1 60073550 60073550 A C rs34026954 FGGY Nonsynonymous SNV N28H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.7 116958 chr12 988855 988855 G A rs79816263 WNK1 Synonymous SNV P830P 0.01 0.01 0.003 0 12 4 0 1 0 0 0 0 Benign/Likely benign 7.222 116959 chr12 3126691 3126691 G A rs149743004 TEAD4 Nonsynonymous SNV G32E 0.002 0 0 5 2 0 0.013 0 0 0 0 0 15.35 116960 chr12 81004244 81004244 C A rs141624342 PTPRQ Synonymous SNV S1414S 0.009 0.01 0.014 2 11 4 0.005 4 0 0 0 0 Benign 13.06 116961 chr20 47860223 47860223 - T DDX27 Stop gain K787* 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 116962 chr1 62672681 62672683 TGA - rs765069059 L1TD1 D129del 0.002 0 0 0 2 0 0 0 0 0 0 0 116963 chr20 9401988 9401988 C T PLCB4 Synonymous SNV Y721Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.72 116964 chr11 66114297 66114297 C G rs199697038 B4GAT1 Synonymous SNV L240L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.64 116965 chr20 48558175 48558175 C T rs777328791 RNF114 Nonsynonymous SNV P73L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 22.6 116966 chr11 66468693 66468693 G A rs202114556 SPTBN2 Synonymous SNV S959S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.14 116967 chr1 231700529 231700529 G A rs568025672 TSNAX Nonsynonymous SNV A251T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 17.73 116968 chr20 62407211 62407211 A T ZBTB46 Nonsynonymous SNV Y348N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.88 116969 chr21 22710849 22710849 G A rs35654962 NCAM2 Nonsynonymous SNV D205N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 116970 chr20 62705877 62705877 C G rs766420151 RGS19 Nonsynonymous SNV R57P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.5 116971 chr21 44323814 44323814 G A rs151117436 NDUFV3 Nonsynonymous SNV G231E 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.1 116972 chr12 10786665 10786665 G A rs149554350 STYK1 Synonymous SNV F37F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.995 116973 chr12 6425065 6425065 C T rs149736901 PLEKHG6 Stop gain R164X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 38 116974 chr12 109281243 109281243 C A rs138277420 DAO Nonsynonymous SNV T71N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 116975 chr12 109530360 109530360 C T rs371840572 ALKBH2 Nonsynonymous SNV A78T 0 0 0.003 0 0 0 0 1 0 0 0 0 28 116976 chr21 30437355 30437355 T C rs142657269 CCT8 Synonymous SNV T159T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.6 116977 chr1 235506001 235506001 A G rs557138102 GGPS1 Nonsynonymous SNV K219E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.29 116978 chr1 76198550 76198550 C G ACADM Nonsynonymous SNV L41V 0.003 0 0 0 3 0 0 0 0 0 0 0 3.496 116979 chr21 30380129 30380129 A G rs61735557 RWDD2B Synonymous SNV V226V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.253 116980 chr20 57829443 57829443 A G rs774780337 ZNF831 Nonsynonymous SNV E1560G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.031 116981 chr11 71725796 71725796 C T rs143299097 NUMA1 Nonsynonymous SNV R918H 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 16.81 116982 chr12 111885898 111885898 C G SH2B3 Nonsynonymous SNV P305R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 116983 chr20 60581782 60581782 G A rs138692624 TAF4 Synonymous SNV P669P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 14.85 116984 chr20 60584186 60584186 C T rs147150726 TAF4 Synonymous SNV T602T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 19.27 116985 chr11 73057932 73057932 T C rs542912354 ARHGEF17 Nonsynonymous SNV M1066T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 116986 chr12 113386964 113386964 G A rs370563810 OAS3 Nonsynonymous SNV R443H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 116987 chr12 113728005 113728005 C T rs146118100 TPCN1 Synonymous SNV G555G 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 13.67 116988 chr20 60911398 60911398 G A rs145721906 LAMA5 Nonsynonymous SNV T774I 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 23.2 116989 chr12 118533551 118533551 G A rs112744551 VSIG10 Synonymous SNV L50L 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 10.39 116990 chr1 878664 878664 G A rs370104927 SAMD11 Synonymous SNV E532E 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 3.279 116991 chr12 113321160 113321160 C T rs376509911 RPH3A Synonymous SNV L396L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.54 116992 chr1 878692 878692 A G rs755823919 SAMD11 Nonsynonymous SNV K542E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 116993 chr21 37444929 37444929 G A rs146758729 CBR1 Nonsynonymous SNV G195R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Likely benign 24.1 116994 chr11 75298830 75298830 A G rs61739609 MAP6 Synonymous SNV N572N 0.01 0.008 0 5 12 3 0.013 0 0 0 0 0 9.407 116995 chr12 116457165 116457165 G A rs973354946 MED13L Synonymous SNV D291D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.897 116996 chr21 37597876 37597876 C T rs140670312 DOP1B Nonsynonymous SNV R462C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 116997 chr12 117287193 117287193 C T rs770229793 RNFT2 Synonymous SNV A425A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.42 116998 chr1 2525362 2525362 G A rs141783638 MMEL1 Synonymous SNV A586A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 116999 chr12 119961503 119961503 C A rs116150853 CCDC60 Nonsynonymous SNV T370N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 117000 chr12 121686469 121686469 G A rs201741875 CAMKK2 Synonymous SNV V464V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 14.48 117001 chr11 77907684 77907684 C G USP35 Synonymous SNV T131T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.8 117002 chr12 120660531 120660531 C T rs772963758 PXN Synonymous SNV P172P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 117003 chr1 9019056 9019056 G A rs374026757 CA6 Nonsynonymous SNV V38I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 117004 chr11 78369834 78369834 G T rs200705126 TENM4 Nonsynonymous SNV Q2527K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.06 117005 chr12 121018969 121018969 C A rs181041532 POP5 Nonsynonymous SNV A38S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 117006 chr11 78387298 78387298 T G rs200327703 TENM4 Nonsynonymous SNV N1799H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 26.3 117007 chr21 41725579 41725579 G A rs41367350 DSCAM Synonymous SNV L249L 0.005 0.008 0.01 1 6 3 0.003 3 0 0 1 0 10.07 117008 chr12 121471307 121471307 C T rs143705680 OASL Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 117009 chr12 121711903 121711903 G T rs35798271 CAMKK2 Synonymous SNV R143R 0.001 0.003 0.014 1 1 1 0.003 4 0 0 1 0 13.44 117010 chr21 43413419 43413419 A C rs770596204 ZBTB21 Synonymous SNV L262L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.692 117011 chr21 44840296 44840296 C T rs112011493 SIK1, SIK1B Nonsynonymous SNV A264T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 18.74 117012 chr20 62839408 62839410 GAG - rs767839177 MYT1 E306del 0.006 0.01 0.003 5 7 4 0.013 1 0 0 0 0 117013 chr12 12509879 12509879 G A rs192672178 LOH12CR2 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 117014 chr12 18691225 18691225 G A rs375555307 PIK3C2G Synonymous SNV L1112L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 9.335 117015 chr21 45217423 45217423 C T rs142644786 RRP1 Synonymous SNV G181G 0.008 0.003 0.007 7 9 1 0.018 2 0 0 0 0 Likely benign 21 117016 chr12 122261588 122261588 C T rs149007444 SETD1B Synonymous SNV Y1701Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 117017 chr22 21385907 21385907 C T rs145738590 SLC7A4 Synonymous SNV E65E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.08 117018 chr12 12630240 12630240 C T rs149400013 DUSP16 Nonsynonymous SNV V509M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 117019 chr21 45951007 45951007 A G rs112735071 TSPEAR Synonymous SNV D184D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.005 117020 chr12 122724464 122724464 G A rs141545715 VPS33A Synonymous SNV T268T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 9.133 117021 chr21 15537589 15537589 A G rs61740029 LIPI Nonsynonymous SNV C256R 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 Benign 26.7 117022 chr12 123082285 123082285 C G rs73407858 KNTC1 Nonsynonymous SNV Q1455E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 117023 chr12 123214070 123214070 G A rs151008795 HCAR1 Synonymous SNV L273L 0.007 0.003 0.017 7 8 1 0.018 5 0 0 0 0 5.844 117024 chr12 123270291 123270291 C T rs58131754 CCDC62 Nonsynonymous SNV T141M 0.003 0 0.007 0 3 0 0 2 0 0 0 0 31 117025 chr22 22316862 22316862 C T rs149750093 TOP3B Synonymous SNV T488T 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 13.2 117026 chr12 123463812 123463812 C T rs34010146 OGFOD2 Synonymous SNV P160P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.876 117027 chr12 123470586 123470586 C G rs12828755 PITPNM2 Synonymous SNV A1340A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.394 117028 chr12 123480009 123480009 G T rs55813219 PITPNM2 Nonsynonymous SNV L661M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.2 117029 chr21 17220078 17220078 G C rs1048596153 USP25 Nonsynonymous SNV G812R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 117030 chr11 93808480 93808480 G A rs757061880 HEPHL1 Nonsynonymous SNV D549N 0 0 0 3 0 0 0.008 0 0 0 0 0 33 117031 chr12 123480124 123480132 GCCACCACC - rs372515303 PITPNM2 G620_G622del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 117032 chr12 123482065 123482065 G A rs61677786 PITPNM2 Synonymous SNV L427L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.97 117033 chr1 32263883 32263883 G A rs144387561 SPOCD1 Synonymous SNV Y183Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.334 117034 chr12 131276464 131276464 A G rs200448188 STX2 Nonsynonymous SNV L282P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 117035 chr12 124270365 124270365 G A rs116082071 DNAH10 Nonsynonymous SNV V435M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.8 117036 chr12 124356011 124356011 A G rs61742662 DNAH10 Synonymous SNV T2431T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.002 117037 chr12 133146764 133146764 C T FBRSL1 Nonsynonymous SNV P315L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 117038 chr12 124379239 124379239 A G rs115841994 DNAH10 Synonymous SNV Q2965Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 5.725 117039 chr12 13529486 13529486 T C rs12424050 LINC01559 0 0 0.054 0 0 0 0 16 0 0 4 0 0.402 117040 chr1 26511622 26511622 G A rs139723325 CNKSR1 Nonsynonymous SNV R425H 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign 31 117041 chr1 26515169 26515169 C T rs116461149 CNKSR1 Synonymous SNV T564T 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign 12.71 117042 chr1 26515956 26515956 C T rs1045105 CNKSR1 Nonsynonymous SNV H694Y 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign 0.002 117043 chr12 14778843 14778843 A G rs763353051 GUCY2C Synonymous SNV F752F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.546 117044 chr1 36563637 36563637 C T rs780054210 COL8A2 Nonsynonymous SNV G484S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.2 117045 chr1 26517280 26517280 T C rs139482653 CATSPER4 Synonymous SNV G54G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.027 117046 chr1 26608872 26608873 CT - rs757676742 UBXN11 P375Rfs*32 0.003 0.008 0 1 3 3 0.003 0 0 1 0 0 117047 chr1 26608875 26608896 GGGCCGGGACCGGGACCGGGAC - rs762635882 UBXN11 C366Sfs*34 0.003 0.008 0 1 3 3 0.003 0 0 1 0 0 117048 chr21 47334432 47334432 G A rs377188901 PCBP3 Nonsynonymous SNV A229T 0.003 0 0 0 4 0 0 0 0 0 0 0 2.507 117049 chr1 26648680 26648680 G A rs148975691 CRYBG2 Synonymous SNV F1624F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 14.97 117050 chr11 107966313 107966313 C T rs770173167 CUL5 Synonymous SNV L600L 0 0 0 3 0 0 0.008 0 0 0 0 0 11.65 117051 chr1 26670785 26670785 G A rs141153325 CRYBG2 Synonymous SNV A788A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.4 117052 chr21 47581553 47581553 G A rs756715175 SPATC1L Synonymous SNV L101L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.875 117053 chr12 16713445 16713445 A G rs756161447 LMO3 Synonymous SNV A78A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 117054 chr22 19029339 19029339 C T DGCR2 Synonymous SNV E339E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 117055 chr21 37742065 37742065 G A rs370564418 MORC3 Nonsynonymous SNV C729Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 117056 chr11 108586617 108586617 A G rs116953461 DDX10 Nonsynonymous SNV E445G 0.005 0 0 6 6 0 0.015 0 0 0 0 0 Benign 26.1 117057 chr1 39384766 39384766 G A rs148409315 RHBDL2 Nonsynonymous SNV A120V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.022 117058 chr1 39853640 39853640 A C rs147777128 MACF1 Nonsynonymous SNV Q2980H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 23.6 117059 chr20 21695296 21695296 T C PAX1 Nonsynonymous SNV I487T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 117060 chr22 19789564 19789564 G A rs147844556 GNB1L Nonsynonymous SNV A231V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.09 117061 chr11 111622901 111622901 C T rs782083344 PPP2R1B Synonymous SNV P313P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 15.68 117062 chr12 132636095 132636095 C T rs752431547 NOC4L Synonymous SNV P380P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.569 117063 chr21 47974804 47974804 G A DIP2A Nonsynonymous SNV A1112T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.268 117064 chr12 133338349 133338349 C T ANKLE2 Synonymous SNV A12A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.6 117065 chr12 133384514 133384514 C G rs200628173 GOLGA3 Nonsynonymous SNV G381R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 117066 chr1 41976351 41976351 C T rs150109831 HIVEP3 Nonsynonymous SNV R2330H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.015 117067 chr22 18384646 18384646 T C MICAL3 Nonsynonymous SNV E230G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 117068 chr12 2786115 2786115 C G rs12818148 CACNA1C-AS1 0 0 0.048 0 0 0 0 14 0 0 1 0 Benign 3.322 117069 chr22 31532932 31532932 G A rs777451080 PLA2G3 Synonymous SNV S387S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.71 117070 chr21 43524160 43524160 A G rs375095329 UMODL1 Synonymous SNV T494T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.166 117071 chr12 49434383 49434383 C T rs3741625 KMT2D Synonymous SNV P2390P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 5.646 117072 chr22 19967543 19967543 G A rs1058399 ARVCF Synonymous SNV P373P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.17 117073 chr12 30872061 30872061 A G rs34087421 CAPRIN2 Synonymous SNV S714S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.04 117074 chr20 3052769 3052769 - T OXT Frameshift insertion I57Yfs*97 0.003 0 0 0 4 0 0 0 0 0 0 0 117075 chr12 30884336 30884336 A G rs61735414 CAPRIN2 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.749 117076 chr21 44839781 44839781 G A rs149713367 SIK1, SIK1B Synonymous SNV A359A 0.004 0.013 0 0 5 5 0 0 0 0 0 0 Benign/Likely benign 5.231 117077 chr21 45106786 45106786 T G rs138939671 RRP1B Nonsynonymous SNV L371V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 117078 chr1 3703535 3703535 C T rs375809584 LRRC47 Nonsynonymous SNV V319I 0.007 0 0 0 8 0 0 0 0 0 0 0 1.274 117079 chr12 42839890 42839890 C T rs201087250 PPHLN1 Nonsynonymous SNV P288L 0.007 0.023 0.014 0 8 9 0 4 0 1 0 0 11.8 117080 chr12 4554416 4554416 G A rs775761160 FGF6 Synonymous SNV S107S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 117081 chr1 38355298 38355298 A C rs777731980 INPP5B Nonsynonymous SNV L79R 0.002 0 0 0 2 0 0 0 0 0 0 0 26 117082 chr1 39395166 39395166 G A rs189765746 RHBDL2 Nonsynonymous SNV R6W 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 3.428 117083 chr1 47138878 47138878 C T TEX38 Nonsynonymous SNV A124V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 117084 chr20 34785834 34785834 G A rs45588736 EPB41L1 Synonymous SNV E439E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.19 117085 chr12 47471668 47471668 T C AMIGO2 Nonsynonymous SNV N373S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 117086 chr12 4766924 4766924 C T rs775920867 NDUFA9 Nonsynonymous SNV A110V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.545 117087 chr12 48073280 48073280 G A RPAP3 Nonsynonymous SNV S269L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 117088 chr12 4848450 4848450 C G rs200454053 GALNT8 Nonsynonymous SNV R211G 0 0 0.01 0 0 0 0 3 0 0 0 0 13.3 117089 chr22 30163571 30163571 G A rs200176748 UQCR10 Nonsynonymous SNV A62T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.63 117090 chr21 47552172 47552172 G A rs557446829 COL6A2 Synonymous SNV V922V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.266 117091 chr22 24515664 24515664 G A rs757026602 CABIN1 Nonsynonymous SNV R1494Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 117092 chr12 53207387 53207387 G A rs140582332 KRT4 Synonymous SNV I152I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 13.97 117093 chr1 53373591 53373591 C T ECHDC2 Nonsynonymous SNV A105T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.594 117094 chr12 49087436 49087436 G T rs767245574 CCNT1 Nonsynonymous SNV H521N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 117095 chr12 50041555 50041555 G A rs148320034 FMNL3 Synonymous SNV G852G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 117096 chr22 31722886 31722886 T G rs2240424 PATZ1 Nonsynonymous SNV E639D 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 22.7 117097 chr12 5020658 5020658 C T rs146308797 KCNA1 Synonymous SNV R38R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 15.1 117098 chr1 55247163 55247163 A C TTC22 Nonsynonymous SNV L488R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 117099 chr12 50471785 50471785 G A rs759280738 ASIC1 Nonsynonymous SNV E272K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 117100 chr22 32000930 32000930 C T rs35047625 SFI1 Nonsynonymous SNV R630C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 117101 chr1 55247381 55247381 C G rs915539616 TTC22 Synonymous SNV A415A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 117102 chr20 44141400 44141400 A G rs73305953 SPINT3 Nonsynonymous SNV F54S 0.014 0.01 0.024 13 16 4 0.033 7 0 0 0 0 22.9 117103 chr20 44141411 44141411 C T rs16990288 SPINT3 Synonymous SNV T50T 0.014 0.01 0.024 13 16 4 0.033 7 0 0 0 0 6.328 117104 chr22 19711765 19711765 C T rs142352780 GP1BB Synonymous SNV A133A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.84 117105 chr22 30977362 30977362 C T rs765120611 PES1 Nonsynonymous SNV G261S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.849 117106 chr12 56823922 56823922 C T rs754639088 TIMELESS Synonymous SNV E350E 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.7 117107 chr22 31521813 31521813 C A rs757505804 INPP5J Nonsynonymous SNV P363H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.77 117108 chr22 31673111 31673111 A G rs3747153 LIMK2 Synonymous SNV T682T 0.007 0 0 2 8 0 0.005 0 1 0 0 0 0.15 117109 chr22 31673116 31673116 A G rs3747154 LIMK2 Nonsynonymous SNV Q684R 0.007 0 0 2 8 0 0.005 0 1 0 0 0 5.501 117110 chr20 47864963 47864963 C T ZNFX1 Nonsynonymous SNV R1533Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 117111 chr22 38051628 38051628 C A rs9622673 SH3BP1 Synonymous SNV V681V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.993 117112 chr22 38120154 38120154 G C rs201112075 TRIOBP Nonsynonymous SNV A531P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.8 117113 chr11 126301339 126301339 C T rs757956887 KIRREL3 Synonymous SNV A545A 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 18.39 117114 chr22 38120955 38120955 C T rs139889819 TRIOBP Nonsynonymous SNV R798W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 117115 chr22 38121173 38121173 A G rs114062955 TRIOBP Synonymous SNV Q870Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.619 117116 chr20 48504378 48504378 G A rs755689652 SLC9A8 Nonsynonymous SNV G567R 0.003 0 0 0 4 0 0 0 0 0 0 0 29.2 117117 chr22 38373927 38373927 C T rs779933527 SOX10 Nonsynonymous SNV R215Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 117118 chr20 49218900 49218900 C T rs79352005 RIPOR3 Synonymous SNV L456L 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 8.525 117119 chr20 49225060 49225060 C T rs149887193 RIPOR3 Synonymous SNV L274L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.818 117120 chr22 35463252 35463252 G A rs377644750 ISX Nonsynonymous SNV G58R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 117121 chr22 38982195 38982195 C T rs936296330 FAM227A Nonsynonymous SNV G550R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 117122 chr12 53227712 53227712 A T rs146288989 KRT79 Synonymous SNV P111P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 117123 chr11 132177687 132177687 G A rs752839570 NTM Nonsynonymous SNV V211M 0 0 0 3 0 0 0.008 0 0 0 0 0 29.5 117124 chr12 62931930 62931930 G A rs147434526 MON2 Nonsynonymous SNV G725R 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 21.4 117125 chr12 53242640 53242640 G T rs144892551 KRT78 Synonymous SNV R25R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.451 117126 chr22 39760275 39760275 A G rs77424082 SYNGR1 Nonsynonymous SNV S26G 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 2.438 117127 chr22 36886199 36886199 C G rs35748020 FOXRED2 Nonsynonymous SNV E547D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 14.61 117128 chr12 53499350 53499350 A T rs145607014 SOAT2 Nonsynonymous SNV Q94L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.12 117129 chr22 24456455 24456455 C T rs201606398 CABIN1 Nonsynonymous SNV R440C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 117130 chr12 53671264 53671264 G A rs34424268 ESPL1 Nonsynonymous SNV R699Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.86 117131 chr12 53680135 53680135 C T rs61741367 ESPL1 Synonymous SNV S1205S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.48 117132 chr22 25291210 25291210 G A rs189786945 SGSM1 Synonymous SNV S597S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.33 117133 chr22 37602952 37602952 C T rs375587837 SSTR3 Synonymous SNV L297L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.284 117134 chr22 37902235 37902235 A C rs61742320 CARD10 Synonymous SNV V449V 0.009 0.01 0.014 4 10 4 0.01 4 0 0 0 0 2.781 117135 chr13 97639000 97639000 T A rs145793060 OXGR1 X338C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.96 117136 chr1 70501827 70501827 T G rs144654091 LRRC7 Nonsynonymous SNV N674K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 117137 chr20 57290275 57290275 C G rs779600933 NPEPL1 Nonsynonymous SNV R489G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.21 117138 chr22 38221094 38221094 - CGCTCTACGCGCTCTGCTGGGGTC rs776365368 GALR3 P250_H251insLYALCWGP 0.001 0 0 1 1 0 0.003 0 0 0 0 0 117139 chr22 38318238 38318238 C T rs201372571 MICALL1 Nonsynonymous SNV R277W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 117140 chr12 56428585 56428585 C T IKZF4 Nonsynonymous SNV P365S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 117141 chr22 29708387 29708387 G A rs201446646 GAS2L1 Synonymous SNV T422T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 117142 chr12 80760369 80760369 A G rs149249642 OTOGL Nonsynonymous SNV I2086V 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Benign/Likely benign 7.354 117143 chr22 39909726 39909726 G A rs2232091 MIEF1 Nonsynonymous SNV D264N 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 22.2 117144 chr22 40139825 40139825 T C rs140956590 ENTHD1 Synonymous SNV R561R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.202 117145 chr1 6253109 6253109 C T rs755379091 RPL22 Synonymous SNV Q41Q 0.005 0 0 0 6 0 0 0 0 0 0 0 15.3 117146 chr2 100017796 100017796 C G REV1 Nonsynonymous SNV E1221Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 117147 chr12 6879375 6879375 C T rs759320133 PTMS Synonymous SNV A83A 0 0 0 2 0 0 0.005 0 0 0 0 0 19.83 117148 chr12 62996647 62996647 C T rs35646256 LINC01465 0 0 0.037 0 0 0 0 11 0 0 0 0 19.67 117149 chr13 111992245 111992245 A G rs370394852 TEX29 Nonsynonymous SNV I69V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 117150 chr13 113964110 113964110 C T rs528276083 LAMP1 Synonymous SNV S112S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.86 117151 chr20 62190641 62190641 G A rs80025449 HELZ2 Synonymous SNV A2067A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.6 117152 chr20 62194212 62194212 C A rs115251319 HELZ2 Nonsynonymous SNV R1419L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.756 117153 chr12 105464485 105464485 G A rs74449999 ALDH1L2 Synonymous SNV S97S 0.024 0.013 0.014 5 28 5 0.013 4 0 0 0 0 13.57 117154 chr2 111666368 111666368 G A rs116012262 ACOXL Nonsynonymous SNV R264Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 117155 chr2 111744774 111744774 G C rs138625972 ACOXL Synonymous SNV V383V 0.012 0.008 0.007 1 14 3 0.003 2 0 0 0 0 10.42 117156 chr20 62200654 62200654 G A rs199657132 HELZ2 Nonsynonymous SNV T312M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.786 117157 chr12 9907749 9907749 A G rs777850345 CD69 Nonsynonymous SNV I99T 0 0 0 2 0 0 0.005 0 0 0 0 0 21.6 117158 chr12 108013764 108013764 C T rs546906146 BTBD11 Synonymous SNV G355G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 117159 chr20 62329974 62329974 C T rs545455758 RTEL1-TNFRSF6B 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 5.279 117160 chr12 71833987 71833987 G A rs139369662 LGR5 Nonsynonymous SNV D43N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 117161 chr12 109876365 109876365 G A rs190693741 MYO1H Nonsynonymous SNV R729H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 117162 chr12 109923835 109923835 C T rs766912979 UBE3B Nonsynonymous SNV R101C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 117163 chr12 11139281 11139281 C A rs771961457 TAS2R50 Nonsynonymous SNV W60L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 117164 chr20 9546724 9546724 C T rs757157617 PAK5 Nonsynonymous SNV R433Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 117165 chr22 43926798 43926798 C T rs141167337 EFCAB6 Nonsynonymous SNV R1275H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 31 117166 chr1 983057 983057 C T AGRN Synonymous SNV H1207H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.46 117167 chr12 82783611 82783611 A G rs373688429 METTL25 Synonymous SNV A60A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.942 117168 chr2 110332292 110332292 C T rs56280142 SEPTIN10 Nonsynonymous SNV E23K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 117169 chr12 8612294 8612294 G C rs150852294 CLEC6A Nonsynonymous SNV A45P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.65 117170 chr2 131519975 131519975 G T rs369083089 AMER3 Nonsynonymous SNV Q110H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.045 117171 chr12 88388444 88388444 T A rs141930463 C12orf50 Nonsynonymous SNV K186N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.3 117172 chr12 15823797 15823797 C T rs77383735 EPS8 Nonsynonymous SNV R66H 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 18.82 117173 chr22 46654242 46654242 A G rs377159496 PKDREJ Synonymous SNV L1660L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.647 117174 chr21 33738971 33738971 C T rs117577554 URB1 Nonsynonymous SNV V431M 0.014 0.003 0.017 3 17 1 0.008 5 0 0 0 0 22 117175 chr1 92470153 92470153 A C rs542880950 BRDT Synonymous SNV L811L 0.009 0.003 0 0 10 1 0 0 0 0 0 0 0.124 117176 chr14 24590668 24590668 C T DCAF11 Synonymous SNV P447P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.151 117177 chr22 47189616 47189616 C T rs146025212 TBC1D22A Nonsynonymous SNV T94M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 4.287 117178 chr2 136691500 136691500 G A rs149170955 DARS1 Nonsynonymous SNV P62S 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Likely benign 17.46 117179 chr2 113951486 113951486 G A rs371254836 PSD4 Synonymous SNV G714G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.34 117180 chr12 95604528 95604528 C T rs141186779 FGD6 Nonsynonymous SNV V178I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 117181 chr12 122292667 122292667 C T rs149180825 HPD Nonsynonymous SNV R119Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.7 117182 chr12 27067479 27067479 T C rs144434963 INTS13 Synonymous SNV L427L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.253 117183 chr14 24795358 24795358 G A rs201057600 ADCY4 Nonsynonymous SNV R528W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 117184 chr12 96354386 96354386 G A rs376460465 AMDHD1 Synonymous SNV P266P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.25 117185 chr14 24884877 24884877 G A rs768878706 NYNRIN Nonsynonymous SNV V1308I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.878 117186 chr12 97957933 97957933 G A rs117471974 RMST 0 0 0.01 0 0 0 0 3 0 0 0 0 0.102 117187 chr2 125204429 125204429 G A CNTNAP5 Nonsynonymous SNV G278D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 117188 chr14 31578800 31578800 T C rs764222422 HECTD1 Nonsynonymous SNV I2095V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 117189 chr2 113885270 113885270 G A rs2232353 IL1RN Synonymous SNV T23T 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign/Likely benign 6.648 117190 chr12 40761550 40761550 C T rs755698334 LRRK2 Stop gain R2523X 0 0 0 2 0 0 0.005 0 0 0 0 0 38 117191 chr12 125834116 125834116 C T TMEM132B Synonymous SNV N62N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.717 117192 chr12 41587983 41587983 T A rs75656873 PDZRN4 Nonsynonymous SNV I279N 0.003 0.003 0.017 3 4 1 0.008 5 0 0 0 0 33 117193 chr2 100917123 100917123 C T LONRF2 Nonsynonymous SNV D350N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.58 117194 chr13 107863032 107863032 A T rs147212926 FAM155A Synonymous SNV P329P 0 0 0.007 0 0 0 0 2 0 0 0 0 2.183 117195 chr13 108518319 108518319 C A rs553102696 FAM155A Nonsynonymous SNV S209I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 117196 chr20 2377204 2377204 C T rs16984872 TGM6 Synonymous SNV S159S 0.013 0.01 0.017 7 15 4 0.018 5 0 0 0 0 Benign 18.01 117197 chr14 42360596 42360596 C T rs150445484 LRFN5 Nonsynonymous SNV T510M 0.003 0 0 0 3 0 0 0 0 0 0 0 28.2 117198 chr2 163241204 163241204 A C rs374512472 KCNH7 Nonsynonymous SNV C986G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.93 117199 chr13 111102781 111102781 C G rs752459272 COL4A2 Nonsynonymous SNV P440R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 117200 chr2 103061776 103061776 G A rs11465716 IL18RAP Nonsynonymous SNV V350I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 117201 chr12 132426506 132426506 C T rs149378338 PUS1 Nonsynonymous SNV T377M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.06 117202 chr20 2796081 2796081 T G rs117426258 C20orf141 Nonsynonymous SNV L84R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 28.5 117203 chr2 170012810 170012810 C T rs199874294 LRP2 Nonsynonymous SNV R4042H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.382 117204 chr13 114507880 114507880 A G rs149535990 TMEM255B Nonsynonymous SNV Y231C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.926 117205 chr13 115052084 115052084 C T rs41291207 UPF3A Nonsynonymous SNV A3V 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 27.9 117206 chr2 170591779 170591779 T C rs769275124 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV H85H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.025 117207 chr12 49169860 49169860 G A rs144153450 ADCY6 Synonymous SNV A564A 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Benign 11.34 117208 chr13 21562919 21562919 G A rs770192145 LATS2 Nonsynonymous SNV R334C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.2 117209 chr13 22178086 22178086 A G rs201389309 MICU2 Nonsynonymous SNV S68P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.093 117210 chr2 176964692 176964692 C - rs550629689 HOXD12 A56Pfs*117 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 117211 chr13 23853541 23853541 C T SGCG Synonymous SNV N143N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 117212 chr12 50358866 50358866 G A rs148637740 AQP5 Nonsynonymous SNV R235H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 28.6 117213 chr2 176981596 176981596 C T rs781411063 HOXD10 Nonsynonymous SNV T12I 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 26.1 117214 chr12 50499343 50499343 G A rs773695657 GPD1 Nonsynonymous SNV D78N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.2 117215 chr20 3285145 3285145 C T rs142832385 C20orf194 Nonsynonymous SNV R575H 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 17.43 117216 chr2 179309181 179309181 T C rs1048189497 PRKRA Nonsynonymous SNV K111E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.53 117217 chr14 60426551 60426551 G C rs200385264 LRRC9 Nonsynonymous SNV A300P 0.003 0 0.01 4 4 0 0.01 3 0 0 0 0 4.951 117218 chr13 27847319 27847319 A C rs199902599 RASL11A Nonsynonymous SNV K97N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.137 117219 chr20 3669843 3669843 C G rs147277415 SIGLEC1 Nonsynonymous SNV E1677Q 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 9.488 117220 chr2 17954397 17954397 G A rs115591812 GEN1 Nonsynonymous SNV E330K 0.008 0.008 0.02 3 9 3 0.008 6 0 0 0 0 23.4 117221 chr2 128262906 128262906 T A rs772740340 IWS1 Synonymous SNV P191P 0.006 0.008 0 0 7 3 0 0 0 0 0 0 0.358 117222 chr14 65210105 65210105 C T PLEKHG3 Nonsynonymous SNV S1115F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 117223 chr22 20760074 20760074 G A rs200346419 ZNF74 Nonsynonymous SNV G180S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.945 117224 chr14 65259950 65259950 C T rs140584449 SPTB Nonsynonymous SNV E811K 0.003 0 0 0 3 0 0 0 0 0 0 0 6.342 117225 chr13 46124375 46124375 C G rs41292939 ERICH6B Nonsynonymous SNV G495A 0.008 0.005 0.031 0 9 2 0 9 0 0 1 0 24.3 117226 chr2 170605969 170605969 C G rs372809928 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV L468L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 117227 chr13 46170898 46170898 C T rs78950901 ERICH6B Synonymous SNV K81K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.076 117228 chr2 162357646 162357646 C T rs554699670 AHCTF1P1 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.566 117229 chr2 172926350 172926350 G A rs149714087 METAP1D Synonymous SNV P55P 0.004 0 0 0 5 0 0 0 0 0 0 0 13.96 117230 chr2 173352892 173352892 T C rs753378795 ITGA6 Nonsynonymous SNV V814A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 117231 chr2 175431808 175431808 G A rs116757787 WIPF1 Synonymous SNV N482N 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign/Likely benign 11.42 117232 chr2 186603388 186603388 C T rs1030966234 FSIP2-AS2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 117233 chr13 60348377 60348377 G A DIAPH3 Nonsynonymous SNV R826W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 117234 chr2 179400080 179400080 T C rs374878689 TTN Synonymous SNV G24689G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.646 117235 chr2 170350279 170350279 A G rs137853921 BBS5 Nonsynonymous SNV N184S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 117236 chr22 25603110 25603110 G A rs144842183 CRYBB3 Synonymous SNV P189P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign/Likely benign 10.95 117237 chr13 97639187 97639187 A G OXGR1 Nonsynonymous SNV I276T 0 0 0.007 0 0 0 0 2 0 0 0 0 1.381 117238 chr2 179587552 179587552 T C rs34562585 TTN Synonymous SNV K6114K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign/Likely benign 0.094 117239 chr2 172330424 172330424 T C rs78488864 DCAF17 Nonsynonymous SNV W344R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 117240 chr2 179605991 179605991 G A rs33971253 TTN Nonsynonymous SNV P3627L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 13.37 117241 chr14 77845275 77845276 GT - rs758131275 SAMD15 S505Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 117242 chr14 77919702 77919702 C T rs148360332 VIPAS39 Nonsynonymous SNV V46M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 27.7 117243 chr14 101438492 101438492 G A rs73350964 SNORD114-14 0 0 0.068 0 0 0 0 20 0 0 1 0 3.208 117244 chr20 44587908 44587908 T A rs190178539 ZNF335 Nonsynonymous SNV I729F 0.009 0.005 0.003 3 11 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 117245 chr2 179407097 179407097 G A rs376810671 TTN Synonymous SNV T23397T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.81 117246 chr2 196922836 196922836 T A rs72917299 DNAH7 Nonsynonymous SNV K7I 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 28.3 117247 chr2 197791257 197791257 G A rs144502622 PGAP1 Synonymous SNV V28V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.25 117248 chr2 179595808 179595808 C T rs756303980 TTN Nonsynonymous SNV E4618K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 117249 chr20 4705306 4705306 C T rs748124038 PRND Nonsynonymous SNV R37W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 117250 chr13 86369721 86369721 G A SLITRK6 Nonsynonymous SNV T308I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 117251 chr14 105175957 105175957 A G rs199526439 INF2 Nonsynonymous SNV I685V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.62 117252 chr13 97484970 97484970 C T rs747297518 HS6ST3 Nonsynonymous SNV R312C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 117253 chr2 187626943 187626943 G A rs369057508 FAM171B Nonsynonymous SNV S625N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 117254 chr14 105350844 105350844 G A rs200830412 CEP170B Synonymous SNV A506A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.71 117255 chr2 206023488 206023488 G A rs758977626 PARD3B Nonsynonymous SNV E493K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 117256 chr14 105613054 105613054 G A rs903674316 JAG2 Synonymous SNV D791D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.8 117257 chr14 105848366 105848366 G A rs372204325 PACS2 Nonsynonymous SNV A462T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.49 117258 chr22 36054944 36054944 C T rs34527373 APOL6 Synonymous SNV T111T 0.034 0.031 0.034 14 40 12 0.036 10 3 0 0 2 11.99 117259 chr22 36055130 36055130 T A rs5999923 APOL6 Nonsynonymous SNV N173K 0.034 0.031 0.031 13 40 12 0.033 9 3 0 0 1 0.001 117260 chr12 73056900 73056900 C T rs368612590 TRHDE Synonymous SNV V1000V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.71 117261 chr20 56886106 56886106 G C RAB22A Nonsynonymous SNV G15A 0.002 0 0 0 2 0 0 0 0 0 0 0 23 117262 chr2 197964565 197964565 T C ANKRD44 Nonsynonymous SNV I359V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 117263 chr14 100069933 100069933 G C CCDC85C Nonsynonymous SNV R122G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 117264 chr2 198950797 198950797 A T PLCL1 Synonymous SNV G852G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.187 117265 chr14 20763575 20763575 G A rs117492206 TTC5 Synonymous SNV T318T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 117266 chr2 210858950 210858950 A G UNC80 Nonsynonymous SNV I3134V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.87 117267 chr14 20848532 20848532 C T rs145657579 TEP1 Nonsynonymous SNV R1514Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.968 117268 chr2 211319918 211319918 A G LANCL1 Nonsynonymous SNV L107P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 117269 chr2 197729740 197729740 C T rs760584810 PGAP1 Nonsynonymous SNV R222K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 117270 chr22 37770426 37770426 G A rs144318837 ELFN2 Synonymous SNV V383V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.012 117271 chr2 179427779 179427779 G A rs192360370 TTN Nonsynonymous SNV R18629C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 117272 chr14 20864781 20864781 G C rs76466486 TEP1 Nonsynonymous SNV A445G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.5 117273 chr14 102453073 102453073 A G rs17512054 DYNC1H1 Synonymous SNV A837A 0.009 0.008 0.014 6 10 3 0.015 4 0 0 0 0 Benign 5.291 117274 chr2 17947927 17947927 A G rs10177628 GEN1 Nonsynonymous SNV I203V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.037 117275 chr2 179501351 179501351 G A rs72650077 TTN Synonymous SNV G4636G 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.49 117276 chr14 21464935 21464935 T C rs11538171 METTL17 Nonsynonymous SNV F444L 0 0 0.01 1 0 0 0.003 3 0 0 0 0 21.5 117277 chr14 21500228 21500228 A C rs148124753 TPPP2 Nonsynonymous SNV T169P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.489 117278 chr14 103569064 103569064 A G rs200540457 EXOC3L4 Nonsynonymous SNV E335G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.8 117279 chr2 17961321 17961321 A G rs16983864 GEN1 Synonymous SNV A447A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.735 117280 chr14 21555534 21555534 C T rs1005220882 ARHGEF40 Synonymous SNV S719S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13 117281 chr2 204067416 204067416 T C NBEAL1 Nonsynonymous SNV V2444A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 117282 chr2 219137451 219137451 C T rs190517400 PNKD Nonsynonymous SNV P132L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 9.095 117283 chr20 62127296 62127296 C T rs61737389 EEF1A2 Synonymous SNV K79K 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign 16.36 117284 chr20 62153151 62153151 C T rs137981942 PPDPF Synonymous SNV T88T 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 11.41 117285 chr2 207435520 207435520 T C ADAM23 Synonymous SNV D517D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.981 117286 chr20 62161537 62161537 C T rs55963738 PTK6 Synonymous SNV T354T 0.007 0.003 0.007 4 8 1 0.01 2 0 0 0 0 11.39 117287 chr2 17963098 17963098 T G rs57936182 GEN1 Nonsynonymous SNV S873R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.484 117288 chr14 21991636 21991636 G T rs778645942 SALL2 Synonymous SNV V740V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.967 117289 chr2 219508760 219508760 C G rs907230173 ZNF142 Nonsynonymous SNV V827L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 5.639 117290 chr2 208632093 208632093 G A rs3731567 FZD5 Synonymous SNV Y457Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.223 117291 chr22 42461880 42461880 G A NAGA Synonymous SNV D207D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.105 117292 chr20 62198964 62198964 T C HELZ2 Nonsynonymous SNV I14V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.715 117293 chr2 219602542 219602542 A G TTLL4 Nonsynonymous SNV Q48R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 13.09 117294 chr20 62319059 62319059 C T RTEL1 Nonsynonymous SNV R250C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 117295 chr2 208986546 208986546 C T rs150318966 CRYGD Nonsynonymous SNV V126M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 117296 chr2 209200043 209200043 C T rs188498825 PIKFYVE Nonsynonymous SNV R1386W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 34 117297 chr15 25924798 25924798 G A rs9324127 ATP10A Nonsynonymous SNV A1397V 0.022 0.023 0.044 14 26 9 0.036 13 0 0 0 1 0.003 117298 chr14 23947234 23947234 G A rs149001465 NGDN Synonymous SNV X316X 0.007 0.013 0.017 5 8 5 0.013 5 0 0 0 0 15.58 117299 chr2 220075776 220075776 G C rs765350850 ABCB6 Nonsynonymous SNV L629V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 117300 chr20 62715418 62715418 G A rs555074600 LKAAEAR1 Nonsynonymous SNV A52V 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 8.204 117301 chr14 24620761 24620761 G C rs370236802 RNF31 Nonsynonymous SNV G451A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 117302 chr14 24731070 24731070 G A rs144651432 TGM1 Synonymous SNV N113N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.044 117303 chr14 24780822 24780822 G C LTB4R2 Nonsynonymous SNV G318R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 117304 chr20 62705862 62705862 G A RGS19 Nonsynonymous SNV S62F 0.003 0 0 0 4 0 0 0 0 0 0 0 27 117305 chr14 22038644 22038644 T C rs78874473 OR10G3 Nonsynonymous SNV I78V 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 8.336 117306 chr15 33261206 33261206 G C FMN1 Nonsynonymous SNV A676G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 117307 chr14 31535526 31535526 C A rs387906970 AP4S1 Synonymous SNV R42R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.8 117308 chr15 34042216 34042216 A G rs201914506 RYR3 Nonsynonymous SNV I2746V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 18.76 117309 chr14 32414211 32414211 C T rs138113250 LINC02313 0 0 0.034 0 0 0 0 10 0 0 0 0 10.34 117310 chr14 34985557 34985557 C T EAPP Nonsynonymous SNV E273K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 117311 chr22 47188450 47188450 C G rs538299514 TBC1D22A Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 117312 chr14 23744823 23744823 A - rs778848697 HOMEZ D538Efs*9 0.003 0 0 1 4 0 0.003 0 0 0 0 0 117313 chr14 23744825 23744832 CTTCCTCC - rs771610673 HOMEZ Stop gain E536* 0.001 0 0 0 1 0 0 0 0 0 0 0 117314 chr14 23828978 23828978 C T rs115218741 EFS Nonsynonymous SNV E144K 0.007 0.003 0.003 5 8 1 0.013 1 0 0 0 0 25.3 117315 chr15 40005712 40005712 T C rs16969673 FSIP1 Nonsynonymous SNV E374G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 117316 chr15 40062778 40062778 C G rs79627646 FSIP1 Nonsynonymous SNV E54Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.053 117317 chr2 198607796 198607796 C T BOLL Nonsynonymous SNV E164K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 117318 chr2 201726566 201726566 G C rs140005351 CLK1 Nonsynonymous SNV T49S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.723 117319 chr14 24523964 24523964 G A rs763509676 CARMIL3 Nonsynonymous SNV R136Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 117320 chr14 39818063 39818063 C T rs755373652 MIA2 Synonymous SNV G612G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.452 117321 chr21 37442344 37442344 A G rs569886457 LOC100133286 0.005 0 0 2 6 0 0.005 0 0 0 0 0 1.801 117322 chr14 52174814 52174814 A G rs779994863 FRMD6 Nonsynonymous SNV K193E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 117323 chr22 50962435 50962435 T G rs781539081 SCO2 Nonsynonymous SNV I136L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 28.1 117324 chr15 41819466 41819466 G A rs35981448 RPAP1 Nonsynonymous SNV R549C 0.004 0 0.003 0 5 0 0 1 0 0 0 0 34 117325 chr14 55818249 55818249 A C rs193046024 FBXO34 Nonsynonymous SNV S381R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.205 117326 chr2 220379549 220379549 C G rs200285513 ASIC4 Nonsynonymous SNV P162A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.001 117327 chr2 220402388 220402388 G A rs545009738 ASIC4 Nonsynonymous SNV R587H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 117328 chr2 101622513 101622513 T C RPL31 Nonsynonymous SNV V109A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 117329 chr14 61186502 61186502 G T rs141516639 SIX4 Nonsynonymous SNV P509T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.15 117330 chr12 122675953 122675953 G T rs755893416 LRRC43 Nonsynonymous SNV V310L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.05 117331 chr14 39587220 39587220 C A rs150986614 GEMIN2 Synonymous SNV P91P 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 18.83 117332 chr2 224749380 224749380 C T rs140777534 WDFY1 Synonymous SNV T306T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.74 117333 chr15 43814963 43814963 A G rs193113360 MAP1A Nonsynonymous SNV K431R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 117334 chr2 21362667 21362667 A G TDRD15 Synonymous SNV Q776Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.516 117335 chr2 21363400 21363400 A C rs887217899 TDRD15 Nonsynonymous SNV K1021Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 117336 chr15 45409472 45409472 C T rs4774518 DUOXA2 Synonymous SNV Y246Y 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 9.561 117337 chr2 235950729 235950729 A G rs200060219 SH3BP4 Nonsynonymous SNV Q439R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 117338 chr14 65239571 65239571 C T rs771736463 SPTB Synonymous SNV A1760A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 117339 chr21 43413158 43413158 C T rs147318145 ZBTB21 Synonymous SNV Q349Q 0.01 0.016 0.01 2 12 6 0.005 3 0 0 0 0 13.25 117340 chr2 109545728 109545728 C T EDAR Synonymous SNV E94E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.03 117341 chr2 237308100 237308100 C T rs774277195 IQCA1 Nonsynonymous SNV S348N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.1 117342 chr21 44840992 44840992 C T rs142728625 SIK1, SIK1B Nonsynonymous SNV V216I 0.001 0 0 0 1 0 0 0 0 0 0 0 29 117343 chr14 70170176 70170176 C A rs753831671 SUSD6 Nonsynonymous SNV D62E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 117344 chr14 55458040 55458040 A G rs17128116 WDHD1 Nonsynonymous SNV L288P 0.007 0.005 0.014 0 8 2 0 4 0 0 0 0 21.7 117345 chr15 52571773 52571773 G A rs111672313 MYO5C Synonymous SNV H79H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.042 117346 chr2 232457678 232457678 T G rs760725851 TEX44 Nonsynonymous SNV Y6D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 117347 chr12 133159871 133159885 GCCTGGGCCGCGAGC - rs538547455 FBRSL1 R885_G889del 0.017 0.008 0.003 8 20 3 0.021 1 1 0 0 0 117348 chr14 76249524 76249524 A C rs146036604 TTLL5 Nonsynonymous SNV L879F 0.008 0.005 0.014 0 9 2 0 4 0 0 0 0 Benign/Likely benign 7.197 117349 chr15 56144629 56144629 G A rs61754989 NEDD4 Nonsynonymous SNV T727I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.926 117350 chr2 242157144 242157144 G T ANO7 Synonymous SNV P672P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.65 117351 chr2 220423015 220423015 G A rs564050558 OBSL1 Synonymous SNV A1131A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 117352 chr2 242758351 242758351 C T rs779287602 NEU4 Nonsynonymous SNV R491W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.18 117353 chr2 128238687 128238687 A G rs140149850 IWS1 Nonsynonymous SNV I798T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.56 117354 chr15 63102153 63102153 C T rs150114385 TLN2 Synonymous SNV D2231D 0.01 0.003 0 1 12 1 0.003 0 0 0 0 0 Benign 16.65 117355 chr14 65208879 65208879 C T rs150951361 PLEKHG3 Nonsynonymous SNV R882W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 117356 chr21 47852080 47852080 C T rs150615481 PCNT Nonsynonymous SNV P2901L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Uncertain significance 14.66 117357 chr2 238296306 238296306 G C rs113716915 COL6A3 Nonsynonymous SNV L205V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 16.79 117358 chr22 19431880 19431880 G A rs765469124 C22orf39 Nonsynonymous SNV R113W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 117359 chr2 26700697 26700697 A G rs143141993 OTOF Nonsynonymous SNV L22P 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.968 117360 chr2 27121505 27121505 C T rs761018813 DPYSL5 Synonymous SNV G46G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.61 117361 chr2 241531477 241531477 C A rs3792268 CAPN10 Nonsynonymous SNV P200T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 0.719 117362 chr2 27656937 27656937 A G NRBP1 Nonsynonymous SNV I139V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.726 117363 chr14 94731284 94731284 C T rs140391785 PPP4R4 Nonsynonymous SNV R652C 0.007 0.016 0.01 7 8 6 0.018 3 0 0 0 0 35 117364 chr2 231902428 231902428 C A rs138198063 C2orf72 Synonymous SNV R50R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.57 117365 chr15 67938728 67938728 C T rs56254481 MAP2K5 Synonymous SNV C183C 0.013 0.008 0 4 15 3 0.01 0 0 0 0 0 9.958 117366 chr15 68120243 68120243 C G rs760393772 SKOR1 Nonsynonymous SNV Q693E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 117367 chr2 242004747 242004747 A G rs144363510 SNED1 Nonsynonymous SNV R916G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.9 117368 chr2 242047621 242047621 C T rs10167000 PASK Nonsynonymous SNV V1217M 0.005 0 0 2 6 0 0.005 0 0 0 0 0 3.668 117369 chr2 1480878 1480878 G A rs187974063 TPO Synonymous SNV P280P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.054 117370 chr2 242501828 242501828 C T rs145137590 BOK Synonymous SNV L96L 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 11.83 117371 chr2 242255915 242255915 G A rs13417443 SEPTIN2 Synonymous SNV R11R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 8.484 117372 chr13 38158195 38158195 G A rs200458518 POSTN Nonsynonymous SNV T385M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 117373 chr2 242439634 242439634 G C rs34502835 STK25 Synonymous SNV G127G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.31 117374 chr14 99642445 99642445 G A rs376769895 BCL11B Nonsynonymous SNV T171M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 117375 chr2 242815360 242815360 C T rs200039719 RTP5 Synonymous SNV T551T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 16.79 117376 chr2 31621467 31621467 G A rs72549370 XDH Synonymous SNV T135T 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.173 117377 chr22 23524182 23524184 CTC - rs772823202 BCR S347del 0.003 0 0 0 3 0 0 0 0 0 0 0 117378 chr2 25044417 25044417 G A rs72792178 ADCY3 Synonymous SNV N1033N 0.011 0.008 0.01 1 13 3 0.003 3 2 0 0 0 Benign 10.73 117379 chr2 32724715 32724715 C G rs150127918 BIRC6 Nonsynonymous SNV S2857C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25 117380 chr2 15432753 15432753 C T rs77299752 NBAS Synonymous SNV A1645A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.9 117381 chr2 36994381 36994381 C T VIT Nonsynonymous SNV T211I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.63 117382 chr22 28192982 28192982 C G rs45589739 MN1 Nonsynonymous SNV E1184Q 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 25.3 117383 chr2 37458862 37458862 T C rs141773676 NDUFAF7 Nonsynonymous SNV L5P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.116 117384 chr22 26164105 26164105 A G rs41281569 MYO18B Synonymous SNV Q74Q 0.005 0.013 0.01 3 6 5 0.008 3 0 0 0 0 Benign 9.264 117385 chr15 78487029 78487029 C T rs148216585 ACSBG1 Nonsynonymous SNV R91H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 117386 chr15 26361329 26361329 A G rs3749365 LINC00929 0 0 0.007 0 0 0 0 2 0 0 1 0 4.307 117387 chr15 27772750 27772750 C G GABRG3 Nonsynonymous SNV P346R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 117388 chr15 31294523 31294523 T A rs988904393 TRPM1 Nonsynonymous SNV R1477S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 117389 chr13 58208006 58208006 C T rs145861936 PCDH17 Synonymous SNV I442I 0 0 0 3 0 0 0.008 0 0 0 0 0 5.172 117390 chr15 34528946 34528946 C T rs778685963 SLC12A6 Nonsynonymous SNV R987Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 117391 chr2 242066654 242066654 C T rs369051566 PASK Nonsynonymous SNV G559D 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 0.002 117392 chr2 32475391 32475391 T C rs35653927 NLRC4 Synonymous SNV Q514Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.002 117393 chr2 55277344 55277344 G C RTN4 Synonymous SNV P31P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.23 117394 chr2 25141627 25141627 G A ADCY3 Nonsynonymous SNV T77I 0 0.005 0 0 0 2 0 0 0 0 0 0 24.1 117395 chr2 33623575 33623575 C T rs761982545 LTBP1 Nonsynonymous SNV T1342I 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 117396 chr15 40708545 40708545 C T rs372504234 IVD Synonymous SNV D344D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.99 117397 chr2 26410592 26410592 C A rs147704507 GAREM2 Synonymous SNV V697V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 13.01 117398 chr22 37906314 37906314 - CTCCTT CARD10 E273_P274insKE 0.02 0.018 0 7 23 7 0.018 0 0 0 0 0 117399 chr2 37454767 37454767 A G rs34273705 CEBPZ Synonymous SNV S523S 0.008 0.01 0.01 4 9 4 0.01 3 0 0 0 0 0.065 117400 chr2 26798817 26798817 A G FAM166C Nonsynonymous SNV Y41C 0.008 0.01 0 0 9 4 0 0 0 0 0 0 23.9 117401 chr15 88679152 88679152 G A rs763046266 NTRK3 Synonymous SNV A295A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 117402 chr15 89015609 89015609 C A rs965479077 MRPS11 Nonsynonymous SNV H108N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.751 117403 chr13 103388764 103388764 T C rs113711522 CCDC168 Synonymous SNV V4761V 0.007 0.01 0.01 2 8 4 0.005 3 0 0 0 0 Benign 0.018 117404 chr2 40405549 40405549 C G rs200784467 SLC8A1 Synonymous SNV L631L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.571 117405 chr15 42114199 42114199 G A MAPKBP1 Synonymous SNV L974L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.189 117406 chr2 69093413 69093413 G A rs34008398 BMP10 Nonsynonymous SNV R209C 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 26.1 117407 chr2 175440032 175440032 G A rs781522403 WIPF1 Synonymous SNV G86G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.048 117408 chr2 27601738 27601738 C G rs184500376 ZNF513 Nonsynonymous SNV C70S 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 Uncertain significance 6.474 117409 chr22 39136274 39136274 C T rs147351772 SUN2 Nonsynonymous SNV D473N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 23.3 117410 chr22 40058145 40058145 C T rs57299573 CACNA1I Nonsynonymous SNV P991L 0.018 0.003 0.01 1 21 1 0.003 3 0 0 0 0 8.374 117411 chr15 89424608 89424608 A T rs62620692 HAPLN3 Nonsynonymous SNV L158Q 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 24.1 117412 chr2 44023888 44023888 G A rs372370731 DYNC2LI1 Nonsynonymous SNV C204Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 117413 chr2 71592729 71592729 T A ZNF638 Nonsynonymous SNV S630T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.12 117414 chr15 42985103 42985103 G A rs545235526 STARD9 Nonsynonymous SNV G3776E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 117415 chr2 73448353 73448353 A G rs148837866 SMYD5 Synonymous SNV T176T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.898 117416 chr2 73650001 73650001 T C ALMS1 Synonymous SNV F221F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.87 117417 chr2 48808583 48808583 C A rs200359440 STON1, STON1-GTF2A1L Nonsynonymous SNV Q271K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 117418 chr13 113771900 113771936 CGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC - F7 I181Mfs*12 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 117419 chr15 45431670 45431670 C - DUOX1 S422Afs*58 0 0 0.003 0 0 0 0 1 0 0 0 0 117420 chr2 33482431 33482431 G A rs80163321 LTBP1 Nonsynonymous SNV V424I 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign 11.02 117421 chr2 74642044 74642044 G A rs61745979 C2orf81 Synonymous SNV P325P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.177 117422 chr2 33484669 33484669 C T rs149319598 LTBP1 Nonsynonymous SNV P478S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.74 117423 chr2 179658220 179658220 C T rs34337578 TTN Nonsynonymous SNV A483T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 117424 chr15 91432604 91432604 G A rs34573430 FES Nonsynonymous SNV R188Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.7 117425 chr2 55804452 55804452 G A rs147095847 PPP4R3B Synonymous SNV P503P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.488 117426 chr15 48707942 48707942 A C rs764496589 FBN1 Synonymous SNV A2614A 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 3.476 117427 chr15 49659748 49659748 G T FAM227B Nonsynonymous SNV Q390K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 117428 chr2 37480422 37480422 A G rs138690790 PRKD3 Synonymous SNV S857S 0 0.005 0 0 0 2 0 0 0 0 0 0 8.543 117429 chr2 61433190 61433190 T C USP34 Nonsynonymous SNV N3039S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 117430 chr2 183848043 183848043 A T rs748280586 NCKAP1 Nonsynonymous SNV S358T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.03 117431 chr2 40342600 40342600 G T rs148215685 SLC8A1 Synonymous SNV G869G 0.006 0.013 0.007 1 7 5 0.003 2 0 0 0 0 Benign 2.432 117432 chr22 46860223 46860223 C T rs35475907 CELSR1 Synonymous SNV T1188T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.55 117433 chr2 69002375 69002375 T A rs200584327 ARHGAP25 Synonymous SNV T21T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 11.24 117434 chr15 101042051 101042051 A G CERS3 Nonsynonymous SNV F2L 0.005 0 0 0 6 0 0 0 0 0 0 0 8.057 117435 chr15 58728778 58728778 A T rs11638143 LIPC-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.457 117436 chr2 46707891 46707891 G A rs780009765 TMEM247 Synonymous SNV A155A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 6.874 117437 chr2 97351679 97351679 G A rs373626756 FER1L5 Nonsynonymous SNV R633H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.896 117438 chr14 21549112 21549112 G A rs148452599 ARHGEF40 Synonymous SNV Q145Q 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 7.866 117439 chr2 98274456 98274456 C T rs755544675 ACTR1B Nonsynonymous SNV R292Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 26.2 117440 chr2 71887715 71887715 T C rs146384562 DYSF Nonsynonymous SNV I1593T 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 117441 chr2 192160921 192160921 A G rs200150637 MYO1B Nonsynonymous SNV N74D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 117442 chr16 335400 335400 C T rs200200585 PDIA2 Nonsynonymous SNV A295V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.665 117443 chr2 196671541 196671541 C T rs759912480 DNAH7 Nonsynonymous SNV V3367I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 117444 chr2 55407644 55407644 A T rs114931154 CLHC1 0.01 0.018 0.01 3 12 7 0.008 3 0 0 0 0 23.1 117445 chr15 41102301 41102301 C T rs200940591 ZFYVE19 Nonsynonymous SNV R202W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 117446 chr2 74273838 74273838 A G rs913897320 TET3 Nonsynonymous SNV H172R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 117447 chr3 101083734 101083734 T C rs762075915 SENP7 Nonsynonymous SNV S310G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.349 117448 chr15 65351692 65351692 A T RASL12 Synonymous SNV T56T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.371 117449 chr16 1252124 1252124 G A rs777311819 CACNA1H Synonymous SNV S558S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.822 117450 chr22 47059987 47059987 C T rs746868099 GRAMD4 Synonymous SNV S256S 0.005 0 0 0 6 0 0 0 0 0 0 0 16.43 117451 chr2 85866374 85866374 A G rs200081633 USP39 Nonsynonymous SNV T279A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.89 117452 chr15 42160277 42160277 G A rs376824278 SPTBN5 Nonsynonymous SNV A2066V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.645 117453 chr15 68119483 68119483 G C rs770721530 SKOR1 Synonymous SNV G439G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 117454 chr2 69040504 69040504 G A rs61758703 ARHGAP25 Nonsynonymous SNV E247K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 25.3 117455 chr2 20494247 20494247 C T rs373495007 PUM2 Nonsynonymous SNV V292I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 117456 chr15 42276077 42276077 C T rs757508072 PLA2G4E Nonsynonymous SNV A828T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 117457 chr14 23829928 23829928 C T rs780726112 EFS Nonsynonymous SNV G45S 0 0 0 2 0 0 0.005 0 0 0 0 0 34 117458 chr2 8870862 8870862 T C rs13406422 KIDINS220 Synonymous SNV E1712E 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.021 117459 chr2 8897908 8897908 T C rs563784621 KIDINS220 Synonymous SNV G1008G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.198 117460 chr15 72558318 72558318 A G rs147769992 PARP6 Synonymous SNV A32A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 10.26 117461 chr15 43476475 43476475 C - TMEM62 Stop gain L303* 0.003 0.003 0 0 3 1 0 0 0 0 0 0 117462 chr15 43500478 43500478 C T rs116484797 EPB42 Nonsynonymous SNV G372D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.665 117463 chr2 103095717 103095717 A G rs758122552 SLC9A4 Nonsynonymous SNV M226V 0.003 0 0 0 4 0 0 0 0 0 0 0 10.11 117464 chr2 73677790 73677790 C T rs999830347 ALMS1 Nonsynonymous SNV T1378I 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 3.794 117465 chr2 98351914 98351914 C G rs200334904 ZAP70 Synonymous SNV G121G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.807 117466 chr2 210680093 210680093 T C rs200743585 UNC80 Nonsynonymous SNV L438P 0.006 0 0 0 7 0 0 0 0 0 0 0 27.9 117467 chr2 215821412 215821412 C T rs145980660 ABCA12 Nonsynonymous SNV V1752I 0.006 0 0 0 7 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 117468 chr3 108216965 108216965 C T rs201833884 MYH15 Synonymous SNV V204V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.69 117469 chr3 10916717 10916717 C T rs374506700 SLC6A11 Synonymous SNV P276P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 117470 chr2 120125173 120125173 C T rs765262903 DBI Nonsynonymous SNV L5F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.282 117471 chr16 4797363 4797363 C T C16orf71 Stop gain Q434X 0.005 0 0 0 6 0 0 0 0 0 0 0 37 117472 chr3 112993492 112993492 G A rs147404105 BOC Nonsynonymous SNV R502Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 117473 chr3 113377261 113377261 T C rs199925733 USF3 Nonsynonymous SNV T1090A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 117474 chr14 58678082 58678082 C G ACTR10 Nonsynonymous SNV L139V 0 0 0 3 0 0 0.008 0 0 0 0 0 16.82 117475 chr3 11600837 11600837 G A rs374865482 VGLL4 Synonymous SNV P110P 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 5.775 117476 chr14 59113223 59113223 T G rs17094821 DACT1 Nonsynonymous SNV S591A 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 0.01 117477 chr2 141459345 141459345 G A rs779012955 LRP1B Synonymous SNV T2124T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.489 117478 chr15 90771167 90771167 G T rs778024238 SEMA4B Nonsynonymous SNV Q464H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 117479 chr15 65559068 65559068 C T rs145434412 PARP16 Synonymous SNV T117T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 17.93 117480 chr2 1251186 1251186 - CGTCCTTCTACGTTT rs750386464 SNTG2 V330_F331insSSFYV 0.003 0 0 0 4 0 0 0 0 0 0 0 117481 chr3 128627887 128627887 G A rs4494951 ACAD9 Nonsynonymous SNV R477Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign/Likely benign 8.376 117482 chr3 128634037 128634037 C T rs113633667 KIAA1257 Nonsynonymous SNV V778M 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 12.84 117483 chr3 121421425 121421425 A G rs141769887 GOLGB1 Synonymous SNV N394N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.824 117484 chr3 128758556 128758556 G C rs75140996 EFCC1 Nonsynonymous SNV E554D 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.017 117485 chr16 21983430 21983430 A C rs146974535 UQCRC2 Nonsynonymous SNV Q318P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 9.465 117486 chr2 225639698 225639698 G A rs185653208 DOCK10 Synonymous SNV F1973F 0.003 0.008 0 0 4 3 0 0 0 1 0 0 12.35 117487 chr3 130107522 130107522 T C rs772531743 COL6A5 Nonsynonymous SNV L654P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 117488 chr15 74914492 74914492 G A rs762111022 CLK3 Nonsynonymous SNV R282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 117489 chr2 160269003 160269003 T G rs3755433 BAZ2B Synonymous SNV A804A 0.014 0.01 0.014 3 16 4 0.008 4 0 0 0 1 8.361 117490 chr3 123665785 123665785 C T rs772854039 CCDC14 Nonsynonymous SNV D204N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.32 117491 chr2 160289579 160289579 G A rs3732287 BAZ2B Nonsynonymous SNV P467L 0.012 0.01 0.014 1 14 4 0.003 4 0 0 0 0 25.9 117492 chr14 68086701 68086701 C T rs149542357 ARG2 Synonymous SNV L3L 0.001 0.005 0 7 1 2 0.018 0 0 0 0 0 11.96 117493 chr16 29676061 29676061 C T rs200681097 SPN Nonsynonymous SNV R338C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 117494 chr3 119134578 119134578 G A rs149658506 ARHGAP31 Nonsynonymous SNV G1268R 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 24.2 117495 chr15 78466001 78466001 G A rs535712376 ACSBG1 Nonsynonymous SNV R671W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 117496 chr3 136088080 136088080 T C rs143784838 STAG1 Synonymous SNV Q805Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.762 117497 chr3 136170901 136170901 G A rs34807246 STAG1 Synonymous SNV L468L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.36 117498 chr3 136664807 136664807 A T rs61731511 NCK1 Synonymous SNV S139S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.003 117499 chr16 30380943 30380943 C G TBC1D10B Nonsynonymous SNV A188P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 117500 chr16 30435725 30435725 C T DCTPP1 Synonymous SNV L114L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.98 117501 chr16 30941825 30941825 C T rs762186745 FBXL19 Synonymous SNV A427A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.12 117502 chr16 17353016 17353016 C T rs765052371 XYLT1 Nonsynonymous SNV E248K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.6 117503 chr3 128695837 128695837 T C rs187885262 KIAA1257 Nonsynonymous SNV D3G 0.003 0 0 0 3 0 0 0 0 0 0 0 14.49 117504 chr3 129196918 129196918 A C rs149915993 IFT122 Nonsynonymous SNV I292L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.9 117505 chr16 19451842 19451842 C T rs763397362 TMC5 Nonsynonymous SNV P161L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 117506 chr15 84705744 84705744 G A rs62026486 ADAMTSL3 Synonymous SNV T1658T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Likely benign 20.5 117507 chr2 161052881 161052881 G A rs139380804 ITGB6 Synonymous SNV N22N 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 Likely benign 6.85 117508 chr3 130150469 130150469 G C COL6A5 Nonsynonymous SNV M1803I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.54 117509 chr2 239051505 239051505 G A KLHL30 Synonymous SNV E280E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.433 117510 chr2 239072605 239072605 C T rs945128769 ERFE Nonsynonymous SNV R218W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 117511 chr3 148756868 148756868 A G HLTF Nonsynonymous SNV S921P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 117512 chr14 77274421 77274421 G A rs771320260 ANGEL1 Synonymous SNV G240G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.904 117513 chr14 77493788 77493788 C - rs774349152 IRF2BPL Q116Hfs*36 0 0 0 2 0 0 0.005 0 0 0 0 0 117514 chr14 77493790 77493797 GCTGTTGC - rs761663166 IRF2BPL Q114Afs*16 0 0 0 2 0 0 0.005 0 0 0 0 0 117515 chr15 86123833 86123833 T G rs4075256 AKAP13 Nonsynonymous SNV V845G 0.007 0.01 0.007 5 8 4 0.013 2 0 0 0 0 9.943 117516 chr2 241420460 241420460 G C rs756727014 ANKMY1 Synonymous SNV L670L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.468 117517 chr2 241500387 241500387 G A rs776672030 DUSP28 Nonsynonymous SNV G96S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 117518 chr3 133376714 133376714 G A rs375049034 TOPBP1 Synonymous SNV A97A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.48 117519 chr3 151046485 151046485 G A rs575804697 P2RY13 Nonsynonymous SNV S120L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 117520 chr2 241679772 241679772 C T rs777751073 KIF1A Synonymous SNV P1152P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.17 117521 chr16 2129638 2129638 G A rs369536711 TSC2 Nonsynonymous SNV R878H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.2 117522 chr2 174086211 174086211 G C rs149819262 MAP3K20 Nonsynonymous SNV D441H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.33 117523 chr3 13399785 13399785 C A NUP210 Synonymous SNV A755A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 117524 chr16 58031189 58031189 G T rs138089497 ZNF319 Synonymous SNV P327P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.002 117525 chr3 13659612 13659612 C T rs569676795 FBLN2 Nonsynonymous SNV S589L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 117526 chr2 242756152 242756152 C T rs149124108 NEU4 Nonsynonymous SNV P102S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.9 117527 chr16 67234589 67234589 G A ELMO3 Nonsynonymous SNV M181I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.28 117528 chr16 2489792 2489793 AG - CCNF R248Gfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 117529 chr16 27374098 27374098 G A rs143884629 IL4R Synonymous SNV P475P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.443 117530 chr2 174128561 174128561 A T rs188158548 MAP3K20 Nonsynonymous SNV Q547L 0.008 0.01 0.003 0 9 4 0 1 1 0 0 0 24.2 117531 chr15 90344735 90344735 G A rs756199154 ANPEP Nonsynonymous SNV T558M 0.003 0.01 0 0 4 4 0 0 0 0 0 0 23.5 117532 chr14 92604648 92604648 A G rs147424092 CPSF2 Synonymous SNV T53T 0 0 0 2 0 0 0.005 0 0 0 0 0 9.104 117533 chr3 14105773 14105773 G A rs115336347 TPRXL 0.001 0 0 0 1 0 0 0 0 0 0 0 1.288 117534 chr16 68941347 68941347 G A rs375326486 TANGO6 Nonsynonymous SNV D557N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.66 117535 chr15 91424023 91424023 C T rs151122781 FURIN Synonymous SNV N553N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.18 117536 chr16 69356562 69356562 G A rs184892976 VPS4A Nonsynonymous SNV D391N 0.004 0.008 0 0 5 3 0 0 0 0 0 0 23.8 117537 chr16 30735308 30735308 T A rs138541811 SRCAP Synonymous SNV P1521P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign/Likely benign 2.098 117538 chr16 30779824 30779824 T C rs369150602 RNF40 Nonsynonymous SNV L551P 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 18.77 117539 chr14 94756503 94756503 G T rs147367426 SERPINA10 Nonsynonymous SNV S143Y 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 10.55 117540 chr2 179659721 179659721 A G TTN Synonymous SNV A391A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 10.14 117541 chr16 72821632 72821632 - GCCACT rs750444062 ZFHX3 G2600_G2601insSG 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 117542 chr16 31429479 31429479 T C rs78517822 ITGAD Synonymous SNV S862S 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 0.15 117543 chr16 31447694 31447694 G T rs74015528 ZNF843 Synonymous SNV S159S 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 0.853 117544 chr16 31447788 31447788 G A rs74015530 ZNF843 Nonsynonymous SNV P128L 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 17.9 117545 chr16 31580199 31580199 G T rs146620778 YBX3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.376 117546 chr3 151463409 151463409 C T rs141274337 AADACL2 Stop gain R182X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 117547 chr3 15300543 15300543 A T rs775621976 SH3BP5 Synonymous SNV T71T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.356 117548 chr16 331850 331850 C T rs114176225 ARHGDIG Nonsynonymous SNV R60W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 117549 chr3 15497969 15497969 G C rs372064982 COLQ Nonsynonymous SNV Q324E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.83 117550 chr16 3458653 3458653 C T rs756484475 ZNF174 Nonsynonymous SNV R320C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 117551 chr3 155524018 155524018 G A rs951847116 C3orf33 Synonymous SNV T8T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.272 117552 chr3 16217011 16217011 G A rs145410737 GALNT15 Nonsynonymous SNV R118H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.5 117553 chr16 396594 396594 G A AXIN1 Synonymous SNV I144I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.692 117554 chr3 156697059 156697059 G C rs200658547 LEKR1 Nonsynonymous SNV M274I 0.002 0 0 0 2 0 0 0 0 0 0 0 11 117555 chr3 1427330 1427330 G C rs750847186 CNTN6 Nonsynonymous SNV M747I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.69 117556 chr3 184074795 184074795 G A rs764567085 CLCN2 Synonymous SNV R313R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.763 117557 chr16 338146 338146 G A rs150808160 AXIN1 Synonymous SNV I819I 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 6.449 117558 chr3 165547569 165547569 C A rs28933390 BCHE Nonsynonymous SNV G418V 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.79 117559 chr3 184290570 184290570 C T rs530601246 EPHB3 Synonymous SNV Y154Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.87 117560 chr16 4606688 4606688 C T rs373790512 C16orf96 Synonymous SNV D66D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.081 117561 chr16 84129389 84129389 T C rs138518499 MBTPS1 Nonsynonymous SNV N148S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.68 117562 chr3 148878015 148878015 G A rs140443498 HPS3 Synonymous SNV L520L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.27 117563 chr3 169558026 169558026 G A rs200968795 LRRC31 Nonsynonymous SNV A412V 0.005 0 0 0 6 0 0 0 0 0 0 0 11.8 117564 chr16 84228721 84228721 C T rs762885863 ADAD2 Synonymous SNV A218A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.35 117565 chr3 151046588 151046588 A G rs139399025 P2RY13 Synonymous SNV L86L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 117566 chr3 178745285 178745285 C T rs767944267 ZMAT3 Nonsynonymous SNV R195Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 117567 chr3 187416754 187416754 C T rs61755870 RTP2 Synonymous SNV V70V 0.006 0.005 0 0 7 2 0 0 0 0 0 0 11.64 117568 chr3 187447002 187447002 C G rs142017472 BCL6 Nonsynonymous SNV Q397H 0.006 0.005 0 0 7 2 0 0 0 0 0 0 21.9 117569 chr3 178968767 178968767 A C KCNMB3 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.813 117570 chr16 5122041 5122041 C A rs145474820 ALG1 Nonsynonymous SNV T64N 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Likely benign 24.7 117571 chr2 48132690 48132690 - GCT FBXO11 Q56_P57insQ 0.003 0 0 1 3 0 0.003 0 0 0 0 0 117572 chr16 87417321 87417321 C T FBXO31 Synonymous SNV V10V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 117573 chr16 56226639 56226640 CA - rs878979868 DKFZP434H168 0 0 0.02 0 0 0 0 6 0 0 1 0 117574 chr3 16368296 16368296 C T rs149250933 RFTN1 Nonsynonymous SNV V412I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.536 117575 chr2 55254165 55254165 T A rs11677099 RTN4 Nonsynonymous SNV D151V 0.014 0.008 0.01 7 16 3 0.018 3 0 0 0 0 21.2 117576 chr16 57562973 57562973 C T rs79928291 CCDC102A Synonymous SNV P39P 0.003 0.003 0.02 3 4 1 0.008 6 0 0 0 1 15.15 117577 chr16 57601982 57601982 G C rs140917718 ADGRG5 Nonsynonymous SNV V346L 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 26.7 117578 chr16 57752350 57752350 A G rs528459321 DRC7 Nonsynonymous SNV D325G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 117579 chr3 195594795 195594795 G A rs3749334 TNK2 Nonsynonymous SNV R809W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 117580 chr3 186389577 186389577 T C rs201250387 HRG Nonsynonymous SNV V186A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 117581 chr3 185823094 185823094 G A rs372433151 ETV5 Synonymous SNV L78L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.23 117582 chr3 195997373 195997373 A G rs146550541 PCYT1A Synonymous SNV N10N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.403 117583 chr2 21230446 21230446 G A rs145777339 APOB Synonymous SNV Y3098Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.066 117584 chr16 58552671 58552671 A G rs35087114 SETD6 Nonsynonymous SNV Q387R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.24 117585 chr16 59788940 59788940 A G rs2289826 APOOP5 0 0 0.061 0 0 0 0 18 0 0 3 0 6.984 117586 chr16 89347318 89347318 A G rs143743958 ANKRD11 Nonsynonymous SNV S1878P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.23 117587 chr3 27182990 27182990 T C rs41487750 NEK10 Nonsynonymous SNV I344V 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 13.03 117588 chr16 68024777 68024777 G C rs753450669 DPEP2 Nonsynonymous SNV R128G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 117589 chr16 89657579 89657579 G A rs138900291 CPNE7 Nonsynonymous SNV V405I 0.003 0 0 0 4 0 0 0 0 0 0 0 16.29 117590 chr3 27758596 27758596 T C rs149280214 EOMES Nonsynonymous SNV M695V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.18 117591 chr16 89724755 89724755 C T rs13329897 SPATA33 Nonsynonymous SNV S15L 0.005 0.023 0.003 5 6 9 0.013 1 0 0 0 0 3.275 117592 chr16 70517820 70517820 G T COG4 Nonsynonymous SNV A563D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 117593 chr3 194081433 194081433 G A rs770033055 LRRC15 Stop gain Q114X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 117594 chr2 209219370 209219370 G A PIKFYVE 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 117595 chr16 71317567 71317567 A G rs16970857 CMTR2 Nonsynonymous SNV F753L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.77 117596 chr17 1637174 1637174 G A rs143688446 WDR81 Nonsynonymous SNV G412R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 117597 chr3 189691738 189691738 T C rs35072845 P3H2 Nonsynonymous SNV N322S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 117598 chr2 220353584 220353584 G A rs372151241 SPEG Nonsynonymous SNV R2704Q 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 22 117599 chr3 196083618 196083618 T G rs756804685 UBXN7 Nonsynonymous SNV I470L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 117600 chr3 19575381 19575381 G A rs142631555 KCNH8 Synonymous SNV S1038S 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 6.513 117601 chr3 19924081 19924081 C T rs116633211 EFHB Synonymous SNV V763V 0.01 0.005 0.003 0 12 2 0 1 0 0 0 0 14.33 117602 chr3 196089205 196089205 A T rs375067720 UBXN7 Synonymous SNV P396P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 117603 chr3 196674367 196674367 C G rs150414171 PIGZ Nonsynonymous SNV M467I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 117604 chr2 223289360 223289360 C T SGPP2 Synonymous SNV L13L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 117605 chr2 219563458 219563458 C T rs746785758 STK36 Nonsynonymous SNV S1043L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 117606 chr3 19938235 19938235 T G rs145933876 EFHB Nonsynonymous SNV K557Q 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 Likely benign 24.6 117607 chr3 19938327 19938327 C T rs147813419 EFHB Nonsynonymous SNV G526D 0.009 0.013 0.01 3 11 5 0.008 3 0 0 0 0 21.4 117608 chr15 43018543 43018543 G A rs61746359 CDAN1 Synonymous SNV L1057L 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 8.534 117609 chr15 43086928 43086928 C T rs61750838 TTBK2 Synonymous SNV E298E 0 0 0 2 0 0 0.005 0 0 0 0 0 15.02 117610 chr16 81224271 81224271 C G rs74029025 PKD1L2 Nonsynonymous SNV S557T 0.014 0.008 0.007 5 16 3 0.013 2 0 0 0 0 9.47 117611 chr2 8916945 8916945 G A rs2304590 KIDINS220 Synonymous SNV T928T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 117612 chr3 195955680 195955680 G A rs146316634 SLC51A Synonymous SNV R174R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 5.381 117613 chr3 32201104 32201104 C T rs192905901 GPD1L Synonymous SNV L299L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.96 117614 chr17 4443688 4443688 C T rs76606292 MYBBP1A Nonsynonymous SNV R1130H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26.3 117615 chr3 42728214 42728214 C T rs147863385 KLHL40 Synonymous SNV F368F 0.009 0.005 0.01 7 11 2 0.018 3 0 0 0 0 Benign 10.17 117616 chr3 196626891 196626891 C T rs369005871 SENP5 Synonymous SNV D572D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 14.52 117617 chr3 32031649 32031649 C T ZNF860 Nonsynonymous SNV H360Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 117618 chr16 15811131 15811131 G A rs35295469 MYH11 Synonymous SNV L1790L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 12.05 117619 chr3 100328764 100328764 G T rs140472196 ADGRG7 Nonsynonymous SNV G22C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.501 117620 chr17 4860138 4860138 - C rs757440599 ENO3 Frameshift insertion C356Lfs*32 0.004 0.003 0 0 5 1 0 0 0 0 0 0 117621 chr16 84212875 84212875 G A rs199976567 TAF1C Nonsynonymous SNV S429L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 117622 chr3 44636284 44636284 G A rs150885666 ZNF660 Nonsynonymous SNV G200D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.4 117623 chr2 231865152 231865152 C A rs376531158 SPATA3 Nonsynonymous SNV R125S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 117624 chr2 232457729 232457729 G C rs775233925 TEX44 Nonsynonymous SNV E23Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.03 117625 chr16 847913 847913 C T rs190105039 CHTF18 Nonsynonymous SNV R956C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 35 117626 chr2 224770710 224770710 G A rs139858004 WDFY1 Synonymous SNV H96H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.15 117627 chr15 55759311 55759311 G A rs201132774 DNAAF4 Nonsynonymous SNV R152W 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 34 117628 chr3 111766612 111766612 G A rs185826919 TMPRSS7 Nonsynonymous SNV A127T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 23.5 117629 chr2 227917064 227917064 C T rs559743197 COL4A4 Synonymous SNV G975G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 117630 chr3 111950254 111950254 G C rs199776585 SLC9C1 Nonsynonymous SNV T461S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 117631 chr16 87637894 87637896 CTG - rs764103009 JPH3 A157del 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 117632 chr3 46743011 46743011 G T rs397517867 TMIE Nonsynonymous SNV V12L 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Uncertain significance 0.445 117633 chr3 40465410 40465410 A G rs746017542 ENTPD3 Nonsynonymous SNV K437E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 117634 chr3 47451863 47451863 G C rs144025762 PTPN23 Nonsynonymous SNV G733R 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Uncertain significance 10.71 117635 chr16 24583301 24583301 A G rs143025955 RBBP6 Synonymous SNV E1604E 0.002 0 0 0 2 0 0 0 0 0 0 0 1.248 117636 chr2 236706518 236706518 G A rs375060286 AGAP1 Synonymous SNV V263V 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 8.58 117637 chr16 27544637 27544637 G A rs142959385 GTF3C1 Nonsynonymous SNV T275M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 117638 chr3 49200641 49200641 T C rs78680466 CCDC71 Nonsynonymous SNV K334R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 117639 chr2 238733001 238733001 C T rs746431488 RBM44 Synonymous SNV D797D 0.006 0 0 3 7 0 0.008 0 0 0 0 0 12.88 117640 chr3 49321424 49321424 T C rs41290700 USP4 Nonsynonymous SNV I799V 0.012 0.003 0 7 14 1 0.018 0 1 0 0 0 Benign 12.73 117641 chr3 4508872 4508872 G A rs200142963 SUMF1 Nonsynonymous SNV L20F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 0.029 117642 chr2 239169585 239169585 G T rs80156481 PER2 Nonsynonymous SNV H476N 0.005 0 0 4 6 0 0.01 0 0 0 0 0 Likely benign 22.3 117643 chr3 45637109 45637109 T C rs141045534 LIMD1 Synonymous SNV G246G 0.009 0.005 0.02 5 11 2 0.013 6 0 0 0 0 1.226 117644 chr2 234717839 234717839 C A rs188948269 MROH2A Nonsynonymous SNV S788Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.9 117645 chr17 9923105 9923105 G A rs377140711 GAS7 Nonsynonymous SNV T34M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 117646 chr16 89351098 89351098 C T rs140370885 ANKRD11 Nonsynonymous SNV A618T 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign/Likely benign 21.1 117647 chr17 10298623 10298623 C G rs369298245 MYH8 Nonsynonymous SNV V1597L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 117648 chr2 241835291 241835291 C T rs201406842 MAB21L4 Nonsynonymous SNV V42M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.7 117649 chr3 45988733 45988733 C T rs769108589 CXCR6 Nonsynonymous SNV R254C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 117650 chr16 90095484 90095484 C T rs3785184 GAS8-AS1 0 0 0.082 0 0 0 0 24 0 0 1 0 11.59 117651 chr3 46727087 46727087 G A rs544486186 ALS2CL Synonymous SNV D238D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.317 117652 chr3 46747392 46747392 C T rs188085072 TMIE Nonsynonymous SNV S16F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 28 117653 chr17 14204868 14204868 C T rs201721482 HS3ST3B1 Synonymous SNV C11C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.45 117654 chr3 47046519 47046519 G A rs146270553 NBEAL2 Nonsynonymous SNV V2084I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.1 117655 chr3 48955923 48955923 A C rs370185119 ARIH2OS 0.003 0 0.007 0 4 0 0 2 1 0 0 0 0.031 117656 chr16 54957507 54957507 T C CRNDE Nonsynonymous SNV E31G 0.005 0 0 0 6 0 0 0 0 0 0 0 16.45 117657 chr17 17494924 17494924 T G PEMT Nonsynonymous SNV N6T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.768 117658 chr16 55732393 55732393 G A rs201885636 SLC6A2 Nonsynonymous SNV V363I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 117659 chr3 46006586 46006586 C T FYCO1 Nonsynonymous SNV G1030D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.363 117660 chr15 75932144 75932144 C T rs768822886 IMP3 Synonymous SNV Q122Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.23 117661 chr17 18205200 18205200 T A rs765752207 TOP3A Nonsynonymous SNV E210V 0.003 0 0 0 3 0 0 0 0 0 0 0 33 117662 chr3 49054882 49054882 G T DALRD3 Nonsynonymous SNV D261E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.125 117663 chr3 49680065 49680065 C T BSN Nonsynonymous SNV P333L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.46 117664 chr17 1657459 1657459 C T rs148395057 SERPINF2 Synonymous SNV S305S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.103 117665 chr3 12858428 12858428 G A rs200382977 CAND2 Nonsynonymous SNV R573Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 117666 chr3 52526223 52526223 C T NISCH Nonsynonymous SNV R1414W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 117667 chr3 67659978 67659978 A G rs376441279 SUCLG2 Nonsynonymous SNV Y43H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 117668 chr2 27456243 27456243 C T rs759374129 CAD Synonymous SNV L956L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.81 117669 chr3 73433406 73433406 G A PDZRN3 Synonymous SNV L469L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.748 117670 chr3 51671139 51671139 C T rs370461731 RAD54L2 Synonymous SNV P25P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 16.87 117671 chr3 89448646 89448646 A G rs754800507 EPHA3 Nonsynonymous SNV N537S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.507 117672 chr16 66946667 66946667 G A rs142148503 CDH16 Synonymous SNV D297D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.367 117673 chr3 89480301 89480301 A C rs199630398 EPHA3 Nonsynonymous SNV K713T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 117674 chr3 58395295 58395295 C T rs149225621 PXK Nonsynonymous SNV H312Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 117675 chr16 66958886 66958886 T G rs7198458 RRAD Nonsynonymous SNV Q66P 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 11.7 117676 chr16 67003647 67003647 C T rs11861989 CES3 Synonymous SNV P15P 0.005 0 0.01 4 6 0 0.01 3 0 0 0 0 12.76 117677 chr16 67029727 67029727 G A rs377408075 CES4A Synonymous SNV P85P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 1.521 117678 chr16 67218810 67218810 T C rs16957212 EXOC3L1 Nonsynonymous SNV S634G 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 7.189 117679 chr17 18874869 18874869 C A rs191412288 FAM83G Nonsynonymous SNV G759C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 117680 chr2 26693518 26693518 G C rs80356576 OTOF Nonsynonymous SNV D632E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.97 117681 chr16 67229811 67229811 - CAGCAGCAGCAG E2F4 S319_N320insSSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 117682 chr17 19290370 19290370 C A rs146612211 MFAP4 Nonsynonymous SNV G21V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 117683 chr2 30785036 30785036 A G LCLAT1 Nonsynonymous SNV Y130C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 117684 chr16 67237098 67237098 G A rs369920882 ELMO3 Synonymous SNV P584P 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.115 117685 chr3 132322095 132322095 G A rs201541576 ACAD11 Synonymous SNV N533N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 117686 chr16 67262775 67262775 C T rs1140380 TMEM208 Synonymous SNV F55F 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 14.37 117687 chr17 1960906 1960906 C G rs780132156 HIC1 Nonsynonymous SNV L327V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 117688 chr16 67264629 67264629 C T rs6499117 FHOD1 Synonymous SNV E911E 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 10.36 117689 chr17 1961353 1961353 G A rs201599490 HIC1 Nonsynonymous SNV A476T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 17.69 117690 chr16 67304990 67304990 C T rs1061357 SLC9A5 Synonymous SNV S755S 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 17.35 117691 chr17 27208326 27208326 C T rs3736238 FLOT2 Nonsynonymous SNV A328T 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 18.44 117692 chr16 67410697 67410697 T C rs7184290 LRRC36 Synonymous SNV H455H 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 0.286 117693 chr16 67418860 67418860 G A rs8058996 LRRC36 Synonymous SNV E590E 0.006 0 0.014 5 7 0 0.013 4 0 0 0 0 6.389 117694 chr16 67469969 67469969 G A rs5480 HSD11B2 Synonymous SNV A196A 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 Benign 3.794 117695 chr2 27478230 27478230 G C SLC30A3 Nonsynonymous SNV Q360E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.529 117696 chr16 67688761 67688761 C T rs181131541 CARMIL2 Synonymous SNV G1221G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.19 117697 chr2 27558834 27558834 G C rs148867164 GTF3C2 Nonsynonymous SNV L473V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 117698 chr16 67696346 67696346 C T rs115108685 PARD6A Synonymous SNV D278D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.186 117699 chr16 67701225 67701225 G A rs115388552 C16orf86 Synonymous SNV L43L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.644 117700 chr16 67702400 67702400 A G rs201225990 C16orf86 Nonsynonymous SNV D284G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.692 117701 chr16 67761726 67761726 G A rs148375697 RANBP10 Synonymous SNV R429R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.4 117702 chr3 9166498 9166498 A C rs138801402 SRGAP3 Synonymous SNV A57A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 0.025 117703 chr3 53899037 53899037 G A rs748689565 IL17RB Nonsynonymous SNV C404Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 117704 chr16 68373320 68373320 C T rs138720818 PRMT7 Synonymous SNV H150H 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign 9.528 117705 chr3 56702553 56702553 C T rs146406667 TASOR Nonsynonymous SNV V257I 0.008 0.018 0.02 4 9 7 0.01 6 0 0 0 0 15.26 117706 chr17 2310332 2310332 G A rs74415860 LOC284009 0 0 0.017 0 0 0 0 5 0 0 0 0 21.5 117707 chr3 66550668 66550668 C G LRIG1 Nonsynonymous SNV G55A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.27 117708 chr3 62636543 62636543 G A rs143096441 CADPS Synonymous SNV V394V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.96 117709 chr3 63981809 63981809 C T rs367886296 ATXN7 Nonsynonymous SNV R626W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 117710 chr4 100052765 100052765 C G ADH4 Nonsynonymous SNV D245H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 117711 chr3 69168806 69168806 G T rs372507208 LMOD3 Nonsynonymous SNV P234T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 117712 chr17 26911204 26911204 C T rs117510770 SPAG5 Synonymous SNV L792L 0.02 0.026 0.01 10 24 10 0.026 3 1 0 0 0 12.8 117713 chr17 26943505 26943505 C T KIAA0100 Synonymous SNV R1917R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 117714 chr17 34863696 34863696 G A rs368059155 MYO19 Synonymous SNV Y433Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 117715 chr3 69036636 69036636 G A rs774552774 EOGT Nonsynonymous SNV A287V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 117716 chr17 27614402 27614402 C T rs143075808 NUFIP2 Nonsynonymous SNV G204S 0.004 0.005 0.014 0 5 2 0 4 0 0 0 0 Likely benign 10.87 117717 chr16 75268977 75268977 C T rs61743104 BCAR1 Nonsynonymous SNV R397Q 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 27.3 117718 chr16 75669867 75669867 T C rs141539149 KARS1 Synonymous SNV T204T 0.007 0.013 0 0 8 5 0 0 0 0 0 0 Benign 3.972 117719 chr17 2995463 2995463 C T rs140897582 OR1D2 Nonsynonymous SNV M276I 0 0 0.007 0 0 0 0 2 0 0 0 0 20.6 117720 chr17 38126841 38126841 C T rs199621529 GSDMA Stop gain R167X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 117721 chr16 81010051 81010051 C A CMC2 Nonsynonymous SNV R94M 0.003 0 0 0 3 0 0 0 0 0 0 0 27.8 117722 chr3 154147100 154147100 T C rs775887330 GPR149 Nonsynonymous SNV Q102R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.354 117723 chr17 33348543 33348543 A G rs139896126 RFFL Synonymous SNV T146T 0.004 0.008 0.003 6 5 3 0.015 1 0 0 0 0 0.279 117724 chr17 33446137 33446137 G C rs587780102 RAD51D Nonsynonymous SNV S46C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.3 117725 chr17 33457360 33457360 C T rs146757908 FNDC8 Synonymous SNV T294T 0 0 0.007 0 0 0 0 2 0 0 0 0 19.19 117726 chr2 54146314 54146314 C T rs141096393 PSME4 Synonymous SNV P830P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.99 117727 chr4 100203666 100203666 G A rs781090973 ADH1A Nonsynonymous SNV A222V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 117728 chr4 126239882 126239882 A G rs187427286 FAT4 Synonymous SNV Q772Q 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 Benign/Likely benign 0.001 117729 chr17 33904990 33904990 C G rs561976188 PEX12 Nonsynonymous SNV Q17H 0 0 0.003 0 0 0 0 1 0 0 0 0 22 117730 chr17 3417253 3417253 A G rs74362949 TRPV3 Synonymous SNV N778N 0.003 0 0.014 0 4 0 0 4 0 0 0 0 Likely benign 5.919 117731 chr4 102946652 102946652 A C rs754785098 BANK1 Nonsynonymous SNV H394P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 117732 chr3 9974543 9974543 G C rs148575246 IL17RC 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 24 117733 chr3 164739156 164739156 T G SI Nonsynonymous SNV K1039Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.45 117734 chr2 61272966 61272966 T C rs138545154 PEX13 Nonsynonymous SNV M298T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.51 117735 chr17 34958466 34958466 C G rs138056291 MRM1 Nonsynonymous SNV A76G 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 21.4 117736 chr4 104640552 104640552 A C rs776564426 TACR3 Nonsynonymous SNV V94G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.704 117737 chr16 629136 629136 G A rs377584268 PIGQ Nonsynonymous SNV V431I 0 0 0 4 0 0 0.01 0 0 0 0 0 Uncertain significance 16.47 117738 chr4 1309265 1309265 C T rs74997573 MAEA Synonymous SNV S111S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 17.96 117739 chr17 36104651 36104651 G C HNF1B Synonymous SNV S75S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 117740 chr2 65299509 65299509 A G rs141670878 CEP68 Nonsynonymous SNV I427V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 117741 chr4 139966231 139966231 A G rs761936630 NOCT Nonsynonymous SNV Q300R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 117742 chr16 87678588 87678588 C T rs144594225 JPH3 Synonymous SNV A369A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 117743 chr4 111430838 111430838 G A rs142050074 ENPEP Nonsynonymous SNV G357S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 26.2 117744 chr4 144135684 144135684 C T USP38 Nonsynonymous SNV S852F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 117745 chr3 180669208 180669208 C T rs73176330 FXR1 Synonymous SNV T251T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 15.37 117746 chr16 88499755 88499755 A G ZNF469 Synonymous SNV P1959P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.033 117747 chr17 40344455 40344455 C T rs72820887 GHDC Synonymous SNV A231A 0.005 0.003 0.014 6 6 1 0.015 4 0 0 1 0 11.29 117748 chr17 40693136 40693136 C G rs115888189 NAGLU Synonymous SNV A311A 0.004 0.01 0.01 1 5 4 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 13.91 117749 chr17 39183065 39183065 G A rs145881217 KRTAP1-5 Nonsynonymous SNV R115C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 117750 chr16 1391150 1391150 A C rs115198116 BAIAP3 Nonsynonymous SNV K163N 0.003 0.016 0.003 3 4 6 0.008 1 0 0 0 0 19.88 117751 chr17 42231961 42231961 A C rs73314467 HROB Nonsynonymous SNV N421T 0.004 0 0 0 5 0 0 0 0 0 0 0 8.713 117752 chr17 39296676 39296676 G A rs199706293 KRTAP4-6 Nonsynonymous SNV R22C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 117753 chr17 42255628 42255628 T C rs137960715 ASB16 Nonsynonymous SNV L411P 0.004 0 0 0 5 0 0 0 0 0 0 0 28.8 117754 chr3 185823451 185823451 C T rs150171596 ETV5 Synonymous SNV R32R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 13.33 117755 chr17 42272790 42272790 G A rs73316167 ATXN7L3 Synonymous SNV T206T 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 3.138 117756 chr4 123245602 123245602 G A rs74541855 KIAA1109 Synonymous SNV K3605K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 117757 chr3 186330934 186330934 A T rs370627604 AHSG Stop gain K2X 0.004 0 0 0 5 0 0 0 0 0 0 0 37 117758 chr3 186338564 186338564 C T rs35457250 AHSG Nonsynonymous SNV R289C 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Benign 28.2 117759 chr3 187086359 187086359 C A rs138235427 RTP4 Nonsynonymous SNV Q44K 0.003 0 0 0 4 0 0 0 0 0 0 0 26.8 117760 chr4 154709659 154709659 G A SFRP2 Nonsynonymous SNV T110I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 117761 chr16 2053689 2053689 G C rs751117121 ZNF598 Nonsynonymous SNV P88R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.41 117762 chr4 156841088 156841088 A G rs774964314 TDO2 Synonymous SNV L389L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.053 117763 chr17 44953637 44953637 G A rs62071993 WNT9B Synonymous SNV T209T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.47 117764 chr3 190026071 190026071 C T rs147881276 CLDN1 Nonsynonymous SNV V211M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 117765 chr2 86260785 86260785 C T rs78239085 POLR1A Nonsynonymous SNV R1387Q 0.007 0.005 0.014 0 8 2 0 4 0 0 0 0 14.31 117766 chr16 2849411 2849411 C G rs61747736 PRSS41 Nonsynonymous SNV L141V 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.805 117767 chr17 46620725 46620725 T A rs183316427 HOXB2 Nonsynonymous SNV D259V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.549 117768 chr2 99170912 99170912 G A rs150565121 INPP4A Nonsynonymous SNV S509N 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Likely benign 16.55 117769 chr17 46928952 46928952 G A rs118148373 CALCOCO2 Nonsynonymous SNV E180K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.1 117770 chr17 48151876 48151876 G T ITGA3 Nonsynonymous SNV A483S 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 0.003 117771 chr17 4086751 4086751 G A ANKFY1 Nonsynonymous SNV R674W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 117772 chr17 41244124 41244124 C G rs80357101 BRCA1 Nonsynonymous SNV A1095P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.407 117773 chr4 15005347 15005347 - GGC rs528354251 CPEB2 G360_P361insG 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 117774 chr4 167020555 167020555 G A rs116616112 TLL1 Nonsynonymous SNV R928Q 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 21.9 117775 chr16 3778337 3778337 G A rs3751845 CREBBP Synonymous SNV P2199P 0.009 0 0.014 2 10 0 0.005 4 0 0 0 0 Benign 3.175 117776 chr4 152570760 152570760 G A rs375182034 FAM160A1 Nonsynonymous SNV A523T 0 0.003 0 0 0 1 0 0 0 0 0 0 24 117777 chr4 153573692 153573692 G A rs147269679 TMEM154 Nonsynonymous SNV T121I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.1 117778 chr4 175604008 175604008 C T rs41279513 GLRA3 Synonymous SNV Q219Q 0.01 0.016 0.02 4 12 6 0.01 6 0 0 0 0 11.5 117779 chr4 175898934 175898934 A G rs111721161 ADAM29 Nonsynonymous SNV Q753R 0.005 0.005 0.014 4 6 2 0.01 4 0 0 0 0 0.001 117780 chr4 175899001 175899001 T C rs111240604 ADAM29 Synonymous SNV S775S 0.009 0.01 0.02 4 11 4 0.01 6 0 0 0 0 0.009 117781 chr4 154315488 154315488 G A rs369254916 MND1 Synonymous SNV T117T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.59 117782 chr4 17643730 17643730 G A rs201345299 FAM184B Nonsynonymous SNV A823V 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 20.5 117783 chr3 196214320 196214320 C T rs114025031 RNF168 Nonsynonymous SNV E170K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 27.6 117784 chr4 155242283 155242283 C T rs759863405 DCHS2 Nonsynonymous SNV S1423N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.82 117785 chr4 155219185 155219185 T C rs139778830 DCHS2 Nonsynonymous SNV Q2094R 0.01 0.005 0.003 2 12 2 0.005 1 0 0 0 0 0.024 117786 chr17 56320399 56320399 C T LPO Nonsynonymous SNV A20V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.73 117787 chr17 45774112 45774112 C T rs202095370 TBKBP1 Synonymous SNV G87G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 14.48 117788 chr17 45913467 45913467 C T rs77476216 LRRC46 Nonsynonymous SNV R151C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 117789 chr4 183713821 183713821 T C TENM3 Nonsynonymous SNV L1999P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.4 117790 chr4 1746481 1746481 G A rs565079218 TACC3 Synonymous SNV A791A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.451 117791 chr4 17493866 17493866 G A rs767857309 QDPR Synonymous SNV I147I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 117792 chr17 58303400 58303400 C T rs147383770 USP32 Nonsynonymous SNV G478S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.97 117793 chr3 113049330 113049330 C T rs1051686453 CFAP44 Synonymous SNV K1267K 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Likely benign 14.64 117794 chr4 159894311 159894311 A G rs62351583 C4orf45 Nonsynonymous SNV Y73H 0.016 0.016 0.014 4 19 6 0.01 4 1 0 1 0 18.84 117795 chr4 162459419 162459419 C T rs200491447 FSTL5 Nonsynonymous SNV R403H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 25.8 117796 chr4 164247375 164247375 G A rs78156188 NPY1R Nonsynonymous SNV A111V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.26 117797 chr4 184587424 184587424 G C rs138760818 TRAPPC11 Nonsynonymous SNV E73D 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 10.66 117798 chr3 36897843 36897843 C T rs376520986 TRANK1 Nonsynonymous SNV G1080R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.282 117799 chr4 187534267 187534267 G A rs775269125 FAT1 Synonymous SNV D3153D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.934 117800 chr3 38080978 38080978 C T rs201872221 DLEC1 Nonsynonymous SNV R88C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 117801 chr17 4893541 4893541 G A rs149206445 INCA1 Stop gain R22X 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 40 117802 chr4 187629491 187629491 G A rs755548592 FAT1 Synonymous SNV Y497Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.022 117803 chr17 50939510 50939510 T C rs62061191 LINC02089 0 0 0.092 0 0 0 0 27 0 0 13 0 0.006 117804 chr4 186545240 186545240 C T rs760977220 SORBS2 Nonsynonymous SNV R348H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.553 117805 chr3 11606490 11606490 G A rs61744984 VGLL4 Synonymous SNV N6N 0.013 0.01 0 5 15 4 0.013 0 0 0 0 0 10.26 117806 chr17 67270212 67270212 G C rs369254726 ABCA5 Nonsynonymous SNV H884Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.827 117807 chr4 17590505 17590505 C T rs12507986 LAP3 Synonymous SNV D256D 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 13.73 117808 chr17 55123972 55123972 G - rs140811484 RNF126P1 0 0 0.061 0 0 0 0 18 0 0 1 0 117809 chr17 67273802 67273802 T G ABCA5 Nonsynonymous SNV E858D 0.003 0 0 0 3 0 0 0 0 0 0 0 17.79 117810 chr4 17600132 17600132 C T rs7697250 LAP3 Synonymous SNV Y377Y 0.002 0.005 0.014 0 2 2 0 4 0 0 0 0 9.003 117811 chr3 39230770 39230770 C T rs781005341 XIRP1 Nonsynonymous SNV R56H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 117812 chr4 25407219 25407219 A G rs1046757731 ANAPC4 Nonsynonymous SNV H432R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.1 117813 chr17 71248777 71248777 T C rs74909356 CPSF4L Synonymous SNV Q163Q 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.023 117814 chr17 56540441 56540441 G A rs183411035 HSF5 Nonsynonymous SNV S415F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 117815 chr4 18023309 18023309 - GCG rs758596593 LCORL A22_Q23insA 0.001 0 0 0 1 0 0 0 0 0 0 0 117816 chr17 56693594 56693594 G C rs35551271 TEX14 Nonsynonymous SNV Q243E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 25.9 117817 chr17 57289805 57289805 T A rs142548382 SMG8 Nonsynonymous SNV D621E 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 2.273 117818 chr4 1843351 1843351 C T rs138076114 LETM1 Nonsynonymous SNV R106H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.2 117819 chr17 57774803 57774803 G A rs768159887 PTRH2 Synonymous SNV Y179Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.133 117820 chr16 25228698 25228698 G A rs146496870 AQP8 Synonymous SNV G64G 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.099 117821 chr17 6544418 6544418 G A TXNDC17 Nonsynonymous SNV E6K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 117822 chr17 59557298 59557298 T C rs370445458 TBX4 Synonymous SNV D253D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.729 117823 chr3 122002576 122002576 A G rs117375173 CASR Nonsynonymous SNV N592S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.061 117824 chr17 60813944 60813944 G A rs60472825 MARCHF10 Nonsynonymous SNV H429Y 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 11.93 117825 chr17 61021611 61021611 A G rs17759989 MIR633 0 0 0.027 0 0 0 0 8 0 0 1 0 0.714 117826 chr16 28925706 28925706 G A rs767566190 RABEP2 Synonymous SNV L249L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.42 117827 chr4 3076609 3076609 - CAGCAGCAGCAGCAG HTT Q38_P39insQQQQQ 0.003 0 0 5 3 0 0.013 0 0 0 0 0 117828 chr3 12422948 12422948 T C rs147975759 PPARG Synonymous SNV A118A 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.134 117829 chr16 30369454 30369465 CCGCTCCTTCTC - rs960147122 TBC1D10B E743_R746del 0 0 0 2 0 0 0.005 0 0 0 0 0 117830 chr4 38691428 38691428 C G KLF3 Nonsynonymous SNV T208R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 117831 chr4 20591308 20591308 C T rs145314495 SLIT2 Synonymous SNV L1040L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 15.29 117832 chr3 126915909 126915909 A G rs757330843 C3orf56 Synonymous SNV L127L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.283 117833 chr17 66039095 66039095 C T rs11545988 KPNA2 Nonsynonymous SNV P216S 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 24.1 117834 chr17 8053980 8053980 C T rs550860633 PER1 Synonymous SNV R15R 0.004 0 0 4 5 0 0.01 0 0 0 0 0 9.606 117835 chr17 6683193 6683193 C A rs61753286 FBXO39 Nonsynonymous SNV D2E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.258 117836 chr16 31235738 31235738 G A TRIM72 Nonsynonymous SNV A366T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.04 117837 chr4 24810384 24810384 G A rs200984075 CCDC149 Nonsynonymous SNV A406V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 117838 chr4 25019644 25019644 C T rs375887654 LGI2 Nonsynonymous SNV V208M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.3 117839 chr4 25351188 25351188 G A rs200166327 ZCCHC4 Synonymous SNV P278P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.59 117840 chr3 12867010 12867010 C T rs139572691 CAND2 Nonsynonymous SNV R1028C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 33 117841 chr3 47859553 47859553 C T rs772923094 DHX30 Nonsynonymous SNV P24S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 117842 chr4 2886294 2886294 G A rs137927328 ADD1 Synonymous SNV A137A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.63 117843 chr16 53860036 53860036 C T rs367910744 FTO Synonymous SNV T102T 0 0 0 2 0 0 0.005 0 0 0 0 0 9.534 117844 chr17 706987 706987 T C NXN Nonsynonymous SNV K246E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 117845 chr4 52862020 52862020 C G rs202189181 LRRC66 Nonsynonymous SNV A390P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.4 117846 chr17 7096851 7096851 G A rs374550329 DLG4 Synonymous SNV N488N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 117847 chr4 4393207 4393207 C T rs138004441 NSG1 Synonymous SNV V45V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 117848 chr3 49049990 49049990 C T WDR6 Synonymous SNV C315C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.001 117849 chr4 47514621 47514623 GAT - rs772668989 ATP10D D24del 0.003 0 0 0 3 0 0 0 0 0 0 0 117850 chr4 36093506 36093506 C T rs145513915 ARAP2 Synonymous SNV V1474V 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 8.79 117851 chr17 76498793 76498793 - CC rs557164854 DNAH17-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 117852 chr16 57063758 57063758 C T NLRC5 Nonsynonymous SNV R773W 0 0 0 2 0 0 0.005 0 0 0 0 0 35 117853 chr4 57797262 57797262 G T rs200745456 REST Nonsynonymous SNV Q746H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.867 117854 chr3 13659771 13659771 G A rs750796686 FBLN2 Nonsynonymous SNV R642H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 117855 chr3 141497168 141497168 C T rs55712018 GRK7 Synonymous SNV T14T 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 15.17 117856 chr3 141497469 141497469 A T rs34769632 GRK7 Nonsynonymous SNV S115C 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 0.008 117857 chr17 73520485 73520485 G C rs11870627 TSEN54 Nonsynonymous SNV G525R 0.003 0 0.017 0 4 0 0 5 1 0 0 0 Benign/Likely benign 13.32 117858 chr17 73566227 73566227 G A rs11868111 LLGL2 Nonsynonymous SNV A589T 0 0 0.007 0 0 0 0 2 0 0 0 0 32 117859 chr3 142188337 142188337 A C rs28910273 ATR Nonsynonymous SNV Y2068D 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.31 117860 chr3 52822063 52822063 G A rs144934112 ITIH1 Synonymous SNV L374L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.376 117861 chr16 67470525 67470525 C T rs1055761707 HSD11B2 Synonymous SNV R279R 0 0 0 2 0 0 0.005 0 0 0 0 0 7.042 117862 chr17 79164775 79164775 C T rs755773021 CEP131 Nonsynonymous SNV E923K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.2 117863 chr3 150289757 150289757 C A rs199994540 EIF2A Nonsynonymous SNV P214H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 31 117864 chr17 79662042 79662042 C T rs138004246 HGS Nonsynonymous SNV T355M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 117865 chr17 7476042 7476042 A G rs757775882 SENP3-EIF4A1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 117866 chr17 74943953 74943953 C T rs145474400 MGAT5B Synonymous SNV H664H 0 0 0.007 0 0 0 0 2 0 0 0 0 10.37 117867 chr4 49030704 49030704 A G CWH43 Nonsynonymous SNV E415G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 117868 chr17 75277782 75277782 G T SEPTIN9-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 9.99 117869 chr17 75398657 75398657 C T rs201468152 SEPTIN9 Nonsynonymous SNV A191V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.505 117870 chr4 71705386 71705386 - AGC GRSF1 L53_G54insL 0.001 0 0 0 1 0 0 0 0 0 0 0 117871 chr17 75486899 75486899 G A rs768871202 SEPTIN9 Synonymous SNV A334A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.71 117872 chr17 79977565 79977565 C G rs571925174 CENPX Nonsynonymous SNV G32R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 117873 chr3 57545520 57545520 T A PDE12 Nonsynonymous SNV L540Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 117874 chr3 57545581 57545581 A G PDE12 Synonymous SNV L560L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.834 117875 chr4 74442178 74442178 A C rs144044857 RASSF6 Nonsynonymous SNV L262R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28.9 117876 chr4 74477529 74477529 A G rs72863093 RASSF6 Nonsynonymous SNV L27P 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 10.54 117877 chr4 74735269 74735269 G T rs200543208 CXCL1 Nonsynonymous SNV A28S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.082 117878 chr17 76497529 76497529 G T rs7212619 DNAH17-AS1 0 0 0.054 0 0 0 0 16 0 0 1 0 0.595 117879 chr17 76497543 76497543 C T rs7212368 DNAH17-AS1 0 0 0.051 0 0 0 0 15 0 0 1 0 8.123 117880 chr4 76878542 76878542 C T rs572319292 SDAD1 Nonsynonymous SNV R560Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 117881 chr17 27089077 27089077 G C rs550148493 FAM222B Nonsynonymous SNV F5L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.575 117882 chr3 63898369 63898369 A C rs986062347 ATXN7 Nonsynonymous SNV Q32P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 117883 chr4 56277867 56277867 C T rs11542641 TMEM165 Synonymous SNV V98V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.38 117884 chr4 6612965 6612965 G A rs138297924 MAN2B2 Synonymous SNV A790A 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 3.714 117885 chr4 6619152 6619152 G A rs140525110 MAN2B2 Nonsynonymous SNV R865Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 35 117886 chr17 77915949 77915949 G A rs144060365 TBC1D16 Synonymous SNV D280D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.86 117887 chr18 6997810 6997810 G A rs201505782 LAMA1 Synonymous SNV N1579N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 5.422 117888 chr4 79460455 79460455 A G rs112039037 FRAS1 Nonsynonymous SNV N3769S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Uncertain significance 4.655 117889 chr3 168838896 168838896 C T rs185054275 MECOM Synonymous SNV S172S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 117890 chr4 70460361 70460361 C T rs148464836 UGT2A1, UGT2A2 Nonsynonymous SNV E345K 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 34 117891 chr17 78064174 78064174 C A CCDC40 Nonsynonymous SNV H1023Q 0.003 0.036 0.01 0 4 14 0 3 0 7 1 0 4.153 117892 chr17 78064180 78064180 A G rs62075573 CCDC40 Synonymous SNV T1025T 0.003 0.021 0.014 0 3 8 0 4 0 2 0 0 0.611 117893 chr17 78064182 78064182 A G rs62075574 CCDC40 Nonsynonymous SNV H1026R 0.003 0.021 0.014 0 3 8 0 4 0 2 0 0 0.84 117894 chr17 78064184 78064184 A G rs62075575 CCDC40 Nonsynonymous SNV T1027A 0.003 0.021 0.014 0 3 8 0 4 0 2 0 0 1.088 117895 chr17 78064186 78064186 - G rs60807430 CCDC40 Frameshift insertion A1028Gfs*66 0.003 0.021 0.014 0 3 8 0 4 0 2 0 0 117896 chr17 78064196 78064196 T C rs56241848 CCDC40 X1031R 0.003 0.021 0.014 0 3 8 0 4 0 2 0 0 1.232 117897 chr17 78064198 78064200 AAC - rs76140542 CCDC40 *1031* 0.003 0.021 0.01 0 3 8 0 3 0 2 0 0 117898 chr3 97595385 97595385 A C rs137953422 CRYBG3 Nonsynonymous SNV K1783Q 0.002 0.013 0.003 4 2 5 0.01 1 0 0 0 0 1.352 117899 chr3 17255768 17255768 T C rs116772060 TBC1D5 Synonymous SNV K425K 0.016 0.021 0.014 7 19 8 0.018 4 1 0 0 0 0.004 117900 chr17 36485978 36485978 G T rs755044433 GPR179 Nonsynonymous SNV N1158K 0.003 0 0 5 3 0 0.013 0 0 0 0 0 Uncertain significance 19.89 117901 chr17 36623507 36623507 G A rs138289112 ARHGAP23 Nonsynonymous SNV R528H 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 18.59 117902 chr4 85719227 85719227 C T rs756435222 WDFY3 Nonsynonymous SNV G953S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.21 117903 chr3 182616427 182616427 T C rs149206980 ATP11B Nonsynonymous SNV V1062A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 117904 chr17 7906426 7906426 T C rs9905402 GUCY2D Nonsynonymous SNV W21R 0.01 0 0.007 1 12 0 0.003 2 0 0 0 0 Benign 0.001 117905 chr17 37762655 37762655 C T rs112207563 NEUROD2 Synonymous SNV T66T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.3 117906 chr4 87622802 87622802 G C rs151249199 PTPN13 Nonsynonymous SNV S348T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.7 117907 chr4 90856377 90856377 G T rs141872900 MMRN1 Nonsynonymous SNV V516L 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 0.575 117908 chr4 941551 941551 G A rs34555481 TMEM175 Synonymous SNV E8E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.111 117909 chr4 74275077 74275077 T C ALB Nonsynonymous SNV L163S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 117910 chr3 183823173 183823173 G A HTR3E Synonymous SNV K252K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.19 117911 chr4 958972 958972 C T rs146972099 DGKQ Nonsynonymous SNV D576N 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 12.57 117912 chr17 7991402 7991402 G A rs1013125762 MIR4314 0 0 0.003 0 0 0 0 1 0 0 0 0 3.816 117913 chr3 184910092 184910092 T C rs370130327 EHHADH Synonymous SNV L602L 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 0.587 117914 chr4 76943947 76943947 G A rs11548618 CXCL10 Nonsynonymous SNV R29C 0.004 0.01 0.01 0 5 4 0 3 0 0 0 0 Benign 28.9 117915 chr4 983898 983898 C T rs144938228 SLC26A1 Nonsynonymous SNV A277T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 3.115 117916 chr4 8037944 8037944 G A rs200191701 ABLIM2 Nonsynonymous SNV R84C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 117917 chr16 88600033 88600033 - GGGCGC rs765811353 ZFPM1 G563_G564insAG 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 117918 chr4 78079730 78079730 C G CCNG2 Synonymous SNV V15V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.97 117919 chr4 997829 997829 C T rs187833337 IDUA Nonsynonymous SNV S454F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.8 117920 chr16 88788297 88788297 G A rs181441468 PIEZO1 Synonymous SNV P1711P 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 11.23 117921 chr16 88793191 88793191 G A rs142506765 PIEZO1 Nonsynonymous SNV R1211C 0 0 0 3 0 0 0.008 0 0 0 0 0 26 117922 chr4 81124028 81124028 G A rs575791037 PRDM8 Nonsynonymous SNV S471N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.026 117923 chr17 9511470 9511470 G A rs139646620 CFAP52 Nonsynonymous SNV G195D 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Likely benign 8.719 117924 chr17 9631298 9631298 G A rs200272651 USP43 Nonsynonymous SNV R783Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 117925 chr4 8372634 8372634 C A rs200971872 ACOX3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.3 117926 chr18 47015659 47015659 T G SNORD58C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.77 117927 chr16 89713622 89713622 C T rs963695089 CHMP1A Nonsynonymous SNV R117H 0 0 0 3 0 0 0.008 0 0 0 0 0 28.6 117928 chr4 88580393 88580393 A C rs369550864 DMP1 Nonsynonymous SNV T42P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.69 117929 chr18 48255617 48255617 C T MAPK4 Nonsynonymous SNV S175L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 117930 chr4 123868606 123868606 C T rs139834687 SPATA5 Synonymous SNV Y558Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.31 117931 chr5 121780345 121780345 C T rs113042472 SNCAIP Synonymous SNV L100L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 15.09 117932 chr4 90874460 90874460 T C rs201798101 MMRN1 Nonsynonymous SNV L1193S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.5 117933 chr3 195944752 195944752 C T rs199724731 SLC51A Synonymous SNV Y26Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.342 117934 chr3 196159342 196159342 G A rs577467941 UBXN7-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 4.233 117935 chr3 20026922 20026922 T C PP2D1 Nonsynonymous SNV T615A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.6 117936 chr4 88583774 88583774 C A rs141979823 DMP1 Nonsynonymous SNV L266I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.2 117937 chr18 29419351 29419351 C T TRAPPC8 Nonsynonymous SNV V1303I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.47 117938 chr4 140811064 140811096 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC - rs754133130 MAML3 Q500_Q510del 0.001 0 0 0 1 0 0 0 0 0 0 0 117939 chr5 131607845 131607845 G A PDLIM4 Nonsynonymous SNV A306T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 117940 chr4 90816185 90816185 C G MMRN1 Nonsynonymous SNV N21K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.675 117941 chr3 3111952 3111952 A G rs773138961 IL5RA X379Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.01 117942 chr4 147560457 147560457 - GGCGGC POU4F2 G68_R69insGG 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 117943 chr5 131729368 131729368 G T rs28383480 SLC22A5 Nonsynonymous SNV G484V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 117944 chr18 42532537 42532537 A T rs987428741 SETBP1 Nonsynonymous SNV T1078S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 117945 chr5 137521656 137521656 A G rs148685779 KIF20A Nonsynonymous SNV H711R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.078 117946 chr5 138729372 138729372 C T rs377325818 PROB1 Nonsynonymous SNV G467R 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 8.288 117947 chr18 46146097 46146097 C A rs1011115084 CTIF Nonsynonymous SNV T54N 0 0 0.007 0 0 0 0 2 0 0 0 0 27.4 117948 chr18 72343804 72343804 C T rs368173554 ZNF407 Nonsynonymous SNV R277C 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 35 117949 chr5 139227521 139227521 T G rs760621414 NRG2 Nonsynonymous SNV Q779P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.57 117950 chr18 48327868 48327868 C T rs34421198 MRO Nonsynonymous SNV D160N 0.012 0.003 0.014 3 14 1 0.008 4 0 0 0 0 25.8 117951 chr18 54423816 54423816 A C rs143775546 WDR7 Synonymous SNV G664G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.274 117952 chr17 46030560 46030560 C T rs143611718 PRR15L Nonsynonymous SNV R14Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26.3 117953 chr5 139228073 139228078 CCGGGT - rs200668592 NRG2 P600_G601del 0.003 0.003 0.099 2 3 1 0.005 29 0 0 2 1 117954 chr19 308632 308632 G A rs774393187 MIER2 Synonymous SNV P345P 0.004 0 0 0 5 0 0 0 0 0 0 0 6.247 117955 chr5 118969692 118969692 A G rs148156357 FAM170A Synonymous SNV Q36Q 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 0.022 117956 chr5 140256041 140256041 T C PCDHA12 Synonymous SNV P328P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 117957 chr5 140071307 140071333 CTTCGTGCACCGGGGCGGTCCGTTGCC - HARS2 A25_Q34delinsE 0.002 0.003 0 0 2 1 0 0 0 0 0 0 117958 chr5 132272790 132272790 C T rs780861444 AFF4 Nonsynonymous SNV S31N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.34 117959 chr17 5993673 5993673 C T rs563302278 WSCD1 Nonsynonymous SNV A192V 0 0 0 2 0 0 0.005 0 0 0 0 0 18.54 117960 chr18 57567444 57567444 C T rs769494393 PMAIP1 Nonsynonymous SNV P12L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 117961 chr3 44285875 44285875 C T rs145012699 TOPAZ1 Nonsynonymous SNV T626M 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 26.3 117962 chr5 140867326 140867326 C T rs374140638 PCDHGC4 Synonymous SNV D862D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 11.61 117963 chr5 137676906 137676906 A G rs771691857 FAM53C Star tloss M1? 0 0.008 0 0 0 3 0 0 0 0 0 0 18.07 117964 chr5 141325097 141325097 G A rs199928581 PCDH12 Nonsynonymous SNV A1135V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.029 117965 chr3 45000710 45000710 G A ZDHHC3 Synonymous SNV Y73Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.432 117966 chr17 54534629 54534629 T C rs147516817 ANKFN1 Nonsynonymous SNV I443T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 23 117967 chr5 141694443 141694443 C T rs143709567 SPRY4 Synonymous SNV T77T 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 Benign 10.81 117968 chr5 140745634 140745634 T C rs11750908 PCDHGA5 Synonymous SNV P579P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.003 117969 chr5 140755610 140755610 C T rs201022484 PCDHGA6 Nonsynonymous SNV L654F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27.3 117970 chr18 68318113 68318113 G A rs17833037 GTSCR1 0 0 0.027 0 0 0 0 8 0 0 0 0 3.311 117971 chr5 139747146 139747146 C T rs781373088 SLC4A9 Nonsynonymous SNV R656C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 117972 chr5 139747461 139747461 C T rs777473845 SLC4A9 Nonsynonymous SNV R715C 0 0.005 0 0 0 2 0 0 0 0 0 0 20.3 117973 chr5 140802399 140802399 A G rs12520854 PCDHGA11 Synonymous SNV A535A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.003 117974 chr17 59481971 59481971 C T TBX2 Stop gain Q298X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 117975 chr4 187540643 187540643 C A FAT1 Nonsynonymous SNV G2366V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 117976 chr17 8110585 8110585 C T rs150216235 AURKB Nonsynonymous SNV V62M 0.001 0.01 0.003 5 1 4 0.013 1 0 0 0 0 31 117977 chr5 138283067 138283067 T C rs149424114 SIL1 Synonymous SNV E375E 0.013 0.005 0 1 15 2 0.003 0 0 0 0 0 0.094 117978 chr18 77710840 77710840 C G rs370965811 SLC66A2 Synonymous SNV G29G 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 15.2 117979 chr5 140262521 140262521 C T rs782513929 PCDHA13 Nonsynonymous SNV T223I 0 0.005 0 0 0 2 0 0 0 0 0 0 25 117980 chr18 77893552 77893552 A G rs78503084 ADNP2 Nonsynonymous SNV T86A 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 6.267 117981 chr5 138650378 138650378 T C MATR3 Synonymous SNV H21H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.481 117982 chr5 146258293 146258293 - GCTGCTGCT PPP2R2B S19_C20insSSS 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 117983 chr3 47462180 47462180 C T rs202080098 SCAP Nonsynonymous SNV R221Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.7 117984 chr18 77896253 77896253 G A rs75868400 ADNP2 Nonsynonymous SNV G986E 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 11.01 117985 chr19 2078292 2078292 C T rs140161770 MOB3A Nonsynonymous SNV V90I 0.006 0.008 0 0 7 3 0 0 0 0 0 0 7.347 117986 chr5 139227696 139227696 C T rs149093144 NRG2 Nonsynonymous SNV A721T 0.009 0.008 0.014 2 10 3 0.005 4 0 0 0 0 24.1 117987 chr5 139940288 139940288 C T rs147781373 APBB3 Nonsynonymous SNV R330Q 0.007 0.005 0 0 8 2 0 0 0 0 0 0 14.64 117988 chr17 62045503 62045503 A C rs377602871 SCN4A Nonsynonymous SNV W306G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 117989 chr3 49680198 49680198 T A rs201610378 BSN Synonymous SNV P377P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.779 117990 chr19 3600075 3600075 C T rs34881364 TBXA2R Synonymous SNV T186T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.18 117991 chr19 3600204 3600204 G A rs34604531 TBXA2R Synonymous SNV V143V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.656 117992 chr5 149001592 149001592 A C rs200707149 ARHGEF37 Nonsynonymous SNV Q434H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.003 117993 chr5 150920203 150920203 A G FAT2 Synonymous SNV D2988D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.775 117994 chr3 49866909 49866909 C G rs143716103 TRAIP Synonymous SNV R423R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 12.18 117995 chr5 141331105 141331105 T C rs773024219 PCDH12 Synonymous SNV K977K 0 0.005 0 0 0 2 0 0 0 0 0 0 8.356 117996 chr3 49946579 49946579 G A rs192821095 MON1A Synonymous SNV G447G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.87 117997 chr5 154287346 154287346 G A rs141025447 GEMIN5 Nonsynonymous SNV L733F 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 20.4 117998 chr19 3789321 3789321 G A rs74830030 MATK Stop gain R9X 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.3 117999 chr19 3810773 3810773 G T rs138287525 ZFR2 Nonsynonymous SNV P803H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26 118000 chr5 140480787 140480787 G T rs566780663 PCDHB3 Nonsynonymous SNV R185L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.6 118001 chr4 37447798 37447798 C T rs187072975 NWD2 Synonymous SNV N1396N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.767 118002 chr5 150029415 150029415 C T rs3733931 SYNPO Synonymous SNV P526P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 10.77 118003 chr17 67111040 67111040 G T ABCA6 Nonsynonymous SNV Q549K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.37 118004 chr5 150282711 150282713 TCA - rs369071622 ZNF300 M2del 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 118005 chr5 140783882 140783882 G A rs775576610 PCDHGA9 Nonsynonymous SNV A455T 0.008 0.003 0 0 9 1 0 0 0 0 0 0 5.798 118006 chr5 140799493 140799493 G C PCDHGB7 Nonsynonymous SNV Q689H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 118007 chr3 52406395 52406395 G A rs79760452 DNAH1 Synonymous SNV L2273L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 9.492 118008 chr5 140810944 140810944 T - PCDHGA12 A207Lfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 118009 chr3 52557069 52557069 C T rs4234634 STAB1 Synonymous SNV F2313F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.64 118010 chr3 52831916 52831916 C T rs34352685 ITIH3 Synonymous SNV S211S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 15.86 118011 chr3 52841772 52841772 G A rs148156289 ITIH3 Nonsynonymous SNV M757I 0.005 0 0 2 6 0 0.005 0 0 0 0 0 2.693 118012 chr3 52852138 52852138 A G rs2245536 ITIH4 Synonymous SNV S712S 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 1.181 118013 chr3 52852488 52852488 C G rs2256734 ITIH4 Nonsynonymous SNV M684I 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 0.002 118014 chr19 11319619 11319619 G C rs370048275 DOCK6 Nonsynonymous SNV R1638G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 118015 chr3 52853480 52853480 T A rs2276814 ITIH4 Nonsynonymous SNV Q639L 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 0.001 118016 chr5 149431630 149431630 G A rs761967170 HMGXB3 Nonsynonymous SNV V1086I 0 0.005 0 0 0 2 0 0 0 0 0 0 27.5 118017 chr3 52863155 52863155 G A rs150181495 ITIH4 Synonymous SNV A77A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.06 118018 chr19 4544313 4544313 T C rs564925636 SEMA6B Nonsynonymous SNV E656G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 118019 chr3 52867718 52867718 C T rs2276820 MUSTN1, STIMATE-MUSTN1 Synonymous SNV K19K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.59 118020 chr19 4705955 4705955 G A DPP9 Nonsynonymous SNV S114F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 118021 chr17 18874965 18874965 C T rs138715863 FAM83G Nonsynonymous SNV V727I 0.01 0.003 0.01 8 12 1 0.021 3 0 0 0 0 0.818 118022 chr17 18881959 18881959 C T FAM83G Synonymous SNV V340V 0 0 0 3 0 0 0.008 0 0 0 0 0 1.436 118023 chr5 156929816 156929816 C T rs56384823 ADAM19 Nonsynonymous SNV E435K 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 23.2 118024 chr5 169477266 169477266 G A rs137922056 DOCK2 Nonsynonymous SNV V1360M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 118025 chr5 150028642 150028642 G A SYNPO Nonsynonymous SNV A269T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.554 118026 chr4 53731653 53731653 C T rs751365095 RASL11B Nonsynonymous SNV T143I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.211 118027 chr19 1370925 1370925 G A rs149238665 PWWP3A Nonsynonymous SNV V544M 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 22.1 118028 chr19 6696439 6696439 G A rs34029609 C3 Synonymous SNV L967L 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 Benign/Likely benign 11.34 118029 chr19 14070608 14070608 A G DCAF15 Synonymous SNV T447T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.497 118030 chr19 7535040 7535040 G A rs578103182 ARHGEF18 Synonymous SNV P1072P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.029 118031 chr5 154396989 154396989 T C rs536285860 KIF4B Synonymous SNV F1190F 0 0.005 0 0 0 2 0 0 0 0 0 0 0.039 118032 chr5 154193580 154193580 C T rs148515883 LARP1 Nonsynonymous SNV P800L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 16.27 118033 chr5 177669076 177669076 C T rs202138697 COL23A1 Synonymous SNV P516P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 16.43 118034 chr19 15648384 15648384 C T rs755273482 CYP4F22 Nonsynonymous SNV R154W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 118035 chr3 88199289 88199289 - T C3orf38 Frameshift insertion C30Lfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 118036 chr5 156482446 156482446 T G rs141773914 HAVCR1 Synonymous SNV R49R 0.009 0.005 0.014 3 10 2 0.008 4 0 0 0 0 0.437 118037 chr19 15871209 15871209 G C rs143240935 CYP4F24P 0 0 0.02 0 0 0 0 6 0 0 0 0 0.855 118038 chr5 161580302 161580302 T C rs762386331 GABRG2 Synonymous SNV Y444Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.004 118039 chr3 98251220 98251220 G A rs189514169 GPR15 Nonsynonymous SNV V115I 0.004 0 0 0 5 0 0 0 0 0 0 0 24.2 118040 chr19 16687505 16687505 G A rs78725909 MED26 Nonsynonymous SNV A379V 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 16.43 118041 chr5 16572153 16572153 G A rs78314670 RETREG1 Nonsynonymous SNV R127C 0.006 0.008 0 5 7 3 0.013 0 0 1 0 0 Benign 26 118042 chr3 99649766 99649766 A G rs376871388 FILIP1L Synonymous SNV H33H 0.004 0 0 0 5 0 0 0 0 0 0 0 0.007 118043 chr5 174939141 174939141 G T SFXN1 Nonsynonymous SNV V180F 0 0.003 0 0 0 1 0 0 0 0 0 0 33 118044 chr5 169021617 169021617 A G rs764134856 SPDL1 Nonsynonymous SNV M275V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.433 118045 chr5 31538369 31538369 T C rs34357988 C5orf22 Nonsynonymous SNV V127A 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 27.1 118046 chr5 172396483 172396483 G A rs146564404 RPL26L1 Nonsynonymous SNV R126Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23 118047 chr5 176885508 176885508 C T rs143633279 DBN1 Nonsynonymous SNV A175T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 118048 chr4 102981410 102981410 - CTGT rs757338022 BANK1 Frameshift insertion T541Sfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 118049 chr17 36708965 36708965 G T rs746178336 SRCIN1 Synonymous SNV L776L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.901 118050 chr19 17999245 17999245 C G rs45531732 SLC5A5 Synonymous SNV A544A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 118051 chr5 31526205 31526205 G A rs201276010 DROSHA Nonsynonymous SNV R279C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 118052 chr5 179297321 179297321 T C rs1019415798 TBC1D9B Nonsynonymous SNV M887V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 118053 chr19 18775122 18775122 C T rs200010689 KLHL26 Synonymous SNV H45H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.033 118054 chr4 110932389 110932389 - C rs11569144 EGF Frameshift insertion S987Qfs*73 0.003 0 0 0 4 0 0 0 0 0 0 0 118055 chr19 19166077 19166077 C G rs376266044 ARMC6 Nonsynonymous SNV L318V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.7 118056 chr4 111469392 111469392 G T rs763798263 ENPEP Nonsynonymous SNV E687D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 2.733 118057 chr18 2891096 2891096 C A rs146858570 EMILIN2 Nonsynonymous SNV A324D 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 25.4 118058 chr5 38950090 38950090 A C RICTOR Nonsynonymous SNV L1287R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 118059 chr19 21117760 21117760 A G rs76056862 ZNF85 Nonsynonymous SNV T46A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 118060 chr19 21117761 21117761 C T rs76535888 ZNF85 Nonsynonymous SNV T46I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.149 118061 chr18 3277389 3277389 C G rs781113839 MYL12B Nonsynonymous SNV A108G 0.004 0 0 0 5 0 0 0 0 0 0 0 23.6 118062 chr4 83776087 83776087 A G rs111755175 SEC31A Synonymous SNV Y620Y 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 0.003 118063 chr19 2249583 2249583 G A rs61736572 AMH Synonymous SNV L84L 0.009 0.016 0.024 0 10 6 0 7 0 0 0 0 7.382 118064 chr19 2249634 2249634 G A rs61736575 AMH Synonymous SNV G101G 0.009 0.01 0.024 0 10 4 0 7 0 0 0 0 2.311 118065 chr5 45262899 45262899 T C rs148932124 HCN1 Synonymous SNV S599S 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign/Likely benign 0.267 118066 chr5 52382808 52382808 G A rs767112202 ITGA2 Synonymous SNV T1095T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.36 118067 chr4 126412106 126412106 C G rs147662558 FAT4 Nonsynonymous SNV S4711C 0.009 0.008 0 9 11 3 0.023 0 0 0 0 0 Benign 24.7 118068 chr19 33353033 33353033 T C rs121908487 SLC7A9 Nonsynonymous SNV Y232C 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 25.8 118069 chr18 13643392 13643392 C T rs202135989 LDLRAD4 Nonsynonymous SNV P26L 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 13.1 118070 chr19 35449227 35449227 C T ZNF792 Nonsynonymous SNV C511Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 118071 chr5 427760 427760 G A rs187995716 AHRR Synonymous SNV G243G 0.004 0 0 3 5 0 0.008 0 0 0 0 0 1.675 118072 chr5 74491902 74491902 G A ANKRD31 Nonsynonymous SNV P191S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 118073 chr19 36002394 36002394 - CCACTGCTGCTGCCACTGCTGCTGCCA DMKN S282_G283insSGSSSGGSS 0 0 0.003 0 0 0 0 1 0 0 0 0 118074 chr19 13051390 13051390 T C rs370254574 CALR Synonymous SNV D246D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.545 118075 chr5 5303811 5303811 G A rs200742357 ADAMTS16 Nonsynonymous SNV E1040K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 118076 chr5 79029763 79029763 G T rs151112453 CMYA5 Synonymous SNV S1725S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 1.471 118077 chr5 79084895 79084895 A G rs762192905 CMYA5 Nonsynonymous SNV E3886G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 118078 chr5 56111415 56111415 G A rs759046760 MAP3K1 Synonymous SNV A5A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.13 118079 chr19 37241665 37241665 T C ZNF850 Nonsynonymous SNV K61E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 118080 chr19 37382719 37382719 T G rs200398691 ZNF829 Nonsynonymous SNV E325A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 118081 chr5 60628181 60628181 - GCG rs528020839 ZSWIM6 G33_A34insG 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 118082 chr19 3807242 3807242 G A rs763368133 ZFR2 Synonymous SNV C857C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.438 118083 chr4 16504319 16504319 G A rs145335480 LDB2 Nonsynonymous SNV P357S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.45 118084 chr4 169195109 169195109 C A rs76527646 DDX60 Synonymous SNV V810V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.21 118085 chr5 90059270 90059270 C A rs199839743 ADGRV1 Nonsynonymous SNV T4090N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 118086 chr5 1243727 1243727 C A rs148220007 SLC6A18 Nonsynonymous SNV P397T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 25.1 118087 chr5 125824585 125824585 G A rs376235856 GRAMD2B 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 118088 chr4 169630204 169630204 T G rs58395080 PALLD Synonymous SNV A127A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 0.635 118089 chr5 130764699 130764699 A T rs1064539 RAPGEF6 Nonsynonymous SNV V1559E 0.01 0.005 0.01 1 12 2 0.003 3 0 0 0 0 Benign 1.705 118090 chr5 130771677 130771677 C T rs187139346 RAPGEF6 Synonymous SNV T1381T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.19 118091 chr5 131007425 131007425 G C rs144448122 FNIP1 Nonsynonymous SNV D876E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.13 118092 chr5 73207151 73207151 A G rs555286930 ARHGEF28 Nonsynonymous SNV I1254V 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 4.103 118093 chr5 95746604 95746604 T G rs768086283 PCSK1 Synonymous SNV T323T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.526 118094 chr5 131728298 131728298 G A rs11568513 SLC22A5 Nonsynonymous SNV V481I 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.071 118095 chr5 74880673 74880673 T C rs761970289 POLK Nonsynonymous SNV L317P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 118096 chr19 39915815 39915815 C T rs768513549 PLEKHG2 Nonsynonymous SNV R1348W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 118097 chr5 132009757 132009757 C T rs201750589 IL4 Synonymous SNV S5S 0.003 0 0 0 4 0 0 0 0 0 0 0 14.58 118098 chr5 93809071 93809071 G C rs757654746 KIAA0825 Nonsynonymous SNV L461V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.76 118099 chr5 9629760 9629760 T C rs375157688 TAS2R1 Nonsynonymous SNV M129V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.638 118100 chr5 75991425 75991425 G A rs142258030 IQGAP2 Synonymous SNV T876T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.42 118101 chr5 134782087 134782087 T C rs139885262 DCANP1 Nonsynonymous SNV R238G 0.003 0 0 0 4 0 0 0 0 0 0 0 1.055 118102 chr19 40541934 40541934 G C rs377464481 ZNF780B Nonsynonymous SNV Q278E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 118103 chr5 135188486 135188486 A T rs917484809 SLC25A48 Nonsynonymous SNV M133L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 118104 chr5 96443062 96443062 A T LIX1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 118105 chr17 56270754 56270754 G A rs376231518 EPX Nonsynonymous SNV G65S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 118106 chr17 56277103 56277103 G A rs754331816 EPX Synonymous SNV S495S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.469 118107 chr17 56348134 56348134 T C rs780418062 MPO Synonymous SNV T707T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.303 118108 chr6 108882648 108882653 CGGCGG - rs372569038 FOXO3 G83_G84del 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 118109 chr5 98205532 98205532 T C rs139215644 CHD1 Nonsynonymous SNV I1345V 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 6.113 118110 chr18 67776787 67776787 G T rs377399910 RTTN Nonsynonymous SNV P372T 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 118111 chr6 10556986 10556986 G A rs35537333 GCNT2 Synonymous SNV R110R 0.008 0.016 0.003 5 9 6 0.013 1 0 0 0 0 Benign 15.88 118112 chr5 138456776 138456776 G A rs148651377 SIL1 Synonymous SNV A64A 0.006 0 0 0 7 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.997 118113 chr5 138739707 138739707 C T rs201105749 SPATA24 Nonsynonymous SNV V15M 0.004 0 0 0 5 0 0 0 0 0 0 0 25.3 118114 chr4 189012742 189012742 A G rs72724960 TRIML2 Synonymous SNV L392L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 1.331 118115 chr5 139227698 139227698 - CGTCCGCGT rs777026284 NRG2 D719_G720insDAD 0.005 0.003 0 0 6 1 0 0 0 0 0 0 118116 chr5 819650 819650 G A rs777693808 ZDHHC11 Nonsynonymous SNV S379L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 118117 chr19 43965943 43965943 G A rs139358395 LYPD3 Nonsynonymous SNV R201W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 34 118118 chr5 89943443 89943443 G T rs145556097 ADGRV1 Nonsynonymous SNV D1051Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26 118119 chr5 89943483 89943483 A C rs190922596 ADGRV1 Nonsynonymous SNV E1064A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.036 118120 chr19 44030778 44030778 G C rs201260191 ETHE1 Nonsynonymous SNV L39V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.2 118121 chr17 62029006 62029006 A G rs79893125 SCN4A Synonymous SNV D877D 0.022 0.021 0.027 13 26 8 0.033 8 0 0 0 0 Benign 0.026 118122 chr17 62034609 62034609 G A rs76894284 SCN4A Synonymous SNV I763I 0.02 0.021 0.031 12 23 8 0.031 9 0 0 0 0 Benign/Likely benign 14.84 118123 chr19 44056977 44056977 C T rs147282758 XRCC1 Synonymous SNV L265L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.854 118124 chr17 62043537 62043537 A G rs16947296 SCN4A Synonymous SNV Y389Y 0.017 0.016 0.031 12 20 6 0.031 9 0 0 0 0 Benign 0.889 118125 chr19 44117166 44117166 C T rs200074607 SRRM5 Nonsynonymous SNV T298M 0.012 0.005 0.003 2 14 2 0.005 1 0 0 0 0 23.5 118126 chr17 65730545 65730545 C T rs372938548 NOL11 Nonsynonymous SNV T125I 0 0 0 3 0 0 0.008 0 0 0 0 0 24.9 118127 chr6 112397289 112397289 G A rs34776116 TUBE1 Synonymous SNV I221I 0.005 0.008 0.017 1 6 3 0.003 5 0 0 0 0 13.74 118128 chr6 112420515 112420515 G A rs55897192 FAM229B Nonsynonymous SNV R10K 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 17.86 118129 chr6 112476767 112476767 A G rs143269044 LAMA4 Synonymous SNV D653D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.805 118130 chr4 25398292 25398292 G A rs34015658 ANAPC4 Synonymous SNV S356S 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 10.99 118131 chr5 95249572 95249572 G A rs139040465 ELL2 Synonymous SNV N128N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.46 118132 chr6 114181184 114181184 C T rs767348295 MARCKS Nonsynonymous SNV T143M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 118133 chr5 140905660 140905660 C T DIAPH1 Synonymous SNV E1164E 0.003 0 0 0 4 0 0 0 0 0 0 0 19.1 118134 chr4 2951813 2951813 T A rs775973549 NOP14 Nonsynonymous SNV D377V 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 118135 chr6 125283920 125283920 G A rs185539044 RNF217 Nonsynonymous SNV G77D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 7.296 118136 chr6 127768744 127768744 A G rs550618270 KIAA0408 Synonymous SNV C240C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.056 118137 chr6 127837132 127837132 C T rs200273098 SOGA3 Nonsynonymous SNV G210S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 118138 chr5 145522992 145522992 C T rs146906828 LARS1 Synonymous SNV E574E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.83 118139 chr6 10406876 10406876 T C rs539564564 TFAP2A-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 6.167 118140 chr6 129813508 129813508 T A rs34997144 LAMA2 Synonymous SNV G2704G 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 11.28 118141 chr19 1108482 1108482 G C SBNO2 Nonsynonymous SNV L1223V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.153 118142 chr6 109867069 109867069 C T rs758883296 AK9 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 118143 chr6 128134543 128134546 TTTC - rs746454521 THEMIS E414Kfs*21 0.003 0 0 0 4 0 0 0 0 0 0 0 118144 chr6 13281750 13281750 T C rs761689274 LOC100130357 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 118145 chr6 128134546 128134546 - AA rs757294144 THEMIS Frameshift insertion E414Lfs*23 0.003 0 0 0 4 0 0 0 0 0 0 0 118146 chr6 110763549 110763549 T A SLC22A16 Nonsynonymous SNV T361S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 118147 chr6 13365368 13365368 G A rs754200124 GFOD1 Synonymous SNV A157A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.05 118148 chr6 133789876 133789876 A G EYA4 Nonsynonymous SNV D272G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.69 118149 chr6 135323972 135323972 C T rs111758776 HBS1L Nonsynonymous SNV V105I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 6.259 118150 chr6 135513684 135513684 T C rs61756670 MYB Synonymous SNV S250S 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Benign 8.926 118151 chr6 136589425 136589425 G A rs77081633 BCLAF1 Nonsynonymous SNV P756S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 118152 chr5 149406413 149406413 G T rs147489392 HMGXB3 Synonymous SNV L369L 0.013 0.003 0.01 2 15 1 0.005 3 0 0 0 0 9.743 118153 chr6 109774938 109774938 G A rs144274960 MICAL1 Synonymous SNV N123N 0.003 0 0 0 4 0 0 0 0 0 0 0 11.69 118154 chr6 137476153 137476153 C T rs150492179 IL22RA2 Nonsynonymous SNV G101R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 118155 chr19 47768140 47768140 C T rs755816844 CCDC9 Synonymous SNV H219H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 118156 chr6 112041068 112041068 C T rs62620251 FYN Nonsynonymous SNV V63I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23 118157 chr6 134210598 134210598 C G rs61729591 TCF21 Nonsynonymous SNV D21E 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 Uncertain significance 6.663 118158 chr19 36018648 36018648 C G rs146976554 SBSN Nonsynonymous SNV G179A 0.023 0.016 0.017 10 27 6 0.026 5 0 0 0 0 7.374 118159 chr6 139048469 139048469 C A GVQW2 0.002 0 0 0 2 0 0 0 0 0 0 0 6.051 118160 chr17 73914024 73914024 C T rs200931077 FBF1 Nonsynonymous SNV E792K 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 22.5 118161 chr4 5021161 5021161 A C rs190051630 CYTL1 Synonymous SNV P4P 0.003 0 0 3 4 0 0.008 0 1 0 0 0 0.061 118162 chr19 48558299 48558299 C T rs35229843 PLA2G4C Nonsynonymous SNV R432Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.3 118163 chr6 147680341 147680341 G A rs140041826 STXBP5 Synonymous SNV S773S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.871 118164 chr6 150157416 150157416 T C rs147922549 LRP11 Nonsynonymous SNV M353V 0.005 0.005 0.01 3 6 2 0.008 3 0 0 0 0 1.736 118165 chr19 49002418 49002418 C T LMTK3 Synonymous SNV P665P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.396 118166 chr6 129470136 129470136 G A rs146462599 LAMA2 Nonsynonymous SNV E308K 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 28 118167 chr19 49407659 49407659 C T rs146255002 NUCB1 Nonsynonymous SNV T64M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 118168 chr19 37917263 37917263 T - ZNF569 D12Mfs*25 0.002 0 0 0 2 0 0 0 0 0 0 0 118169 chr17 76472797 76472797 C A DNAH17 Nonsynonymous SNV A2671S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.414 118170 chr5 160721405 160721405 T G rs200591388 GABRB2 Nonsynonymous SNV T370P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign/Likely benign 22.5 118171 chr19 49937034 49937034 C T rs975754458 SLC17A7 Synonymous SNV K272K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 118172 chr5 162943702 162943702 A G MAT2B Synonymous SNV A235A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.37 118173 chr6 129759798 129759798 A T LAMA2 Nonsynonymous SNV E1992D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.883 118174 chr6 131897807 131897807 G A rs144994895 ARG1 Nonsynonymous SNV R21Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 118175 chr19 38383227 38383227 C T rs1003513453 WDR87 Nonsynonymous SNV R1039Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.62 118176 chr6 151917694 151917694 C T rs779873946 CCDC170 Synonymous SNV A564A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.45 118177 chr6 130505611 130505611 C T rs150968705 SAMD3 Nonsynonymous SNV D205N 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 27.8 118178 chr19 50086489 50086489 C T PRRG2 Nonsynonymous SNV P5S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 118179 chr19 50155567 50155569 AAG - rs771732334 SCAF1 K645del 0 0 0.003 0 0 0 0 1 0 0 0 0 118180 chr17 76803389 76803389 G A USP36 Synonymous SNV L579L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 118181 chr19 50839838 50839838 C T rs61730525 NAPSB 0 0 0.037 0 0 0 0 11 0 0 0 0 17.04 118182 chr6 154411146 154411146 C T OPRM1 Nonsynonymous SNV T59I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 118183 chr19 51140618 51140618 G A rs151019791 SYT3 Synonymous SNV V17V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.63 118184 chr19 40719926 40719926 G C MAP3K10 Synonymous SNV P780P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.709 118185 chr6 138628515 138628515 G T rs61752335 ARFGEF3 Synonymous SNV L1318L 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 Benign 10.74 118186 chr6 144869859 144869859 A G rs116515472 UTRN Nonsynonymous SNV I2227V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 0.001 118187 chr6 143823527 143823527 T G rs72992630 FUCA2 Nonsynonymous SNV I310L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 6.127 118188 chr4 7435926 7435926 G A rs776624597 PSAPL1 Synonymous SNV Y227Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.104 118189 chr17 79164707 79164707 C T rs2279922 CEP131 Synonymous SNV A945A 0.007 0.01 0.017 2 8 4 0.005 5 0 0 1 0 1.737 118190 chr6 166721108 166721108 G T rs200995730 PRR18 Nonsynonymous SNV L175I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 18 118191 chr17 79916212 79916212 C A rs772547244 NOTUM Nonsynonymous SNV K197N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.51 118192 chr4 79285096 79285096 A T FRAS1 Nonsynonymous SNV R870S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 118193 chr19 52497745 52497745 T C rs77230420 ZNF615 Nonsynonymous SNV Q200R 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 22.1 118194 chr5 179743810 179743810 C T rs202097862 GFPT2 Nonsynonymous SNV R369Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 118195 chr6 152643001 152643001 G C rs779313924 SYNE1 Nonsynonymous SNV T5242S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.023 118196 chr6 152694231 152694231 C T rs141821444 SYNE1 Nonsynonymous SNV A3157T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.9 118197 chr6 169639485 169639485 C T rs1001376112 LOC101929523 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.389 118198 chr6 165806198 165806198 G A rs147617249 PDE10A Synonymous SNV V531V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.73 118199 chr19 7763669 7763669 C T rs138917660 FCER2 Nonsynonymous SNV A31T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.417 118200 chr19 53100190 53100190 G C ZNF137P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.369 118201 chr5 19473438 19473438 G A rs201996992 CDH18 Nonsynonymous SNV T757M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 118202 chr5 31526272 31526272 G A rs35969247 DROSHA Synonymous SNV P256P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.72 118203 chr4 85708805 85708805 G A rs755448011 WDFY3 Nonsynonymous SNV T1244M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 118204 chr6 170593038 170593038 G A rs142808021 DLL1 Synonymous SNV N443N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.102 118205 chr6 170600146 170600146 A G FAM120B Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 15.17 118206 chr6 159420677 159420677 C T rs374014611 RSPH3 Stop gain W111X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 118207 chr6 26056563 26056563 G A rs149021102 H1-2 Nonsynonymous SNV P32S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.414 118208 chr6 16327865 16327870 TGCTGC - rs754954093 ATXN1 Q224_Q225del 0.017 0.018 0 8 20 7 0.021 0 0 0 0 0 118209 chr6 16327870 16327870 - TGC ATXN1 Q225_H226insQ 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 118210 chr4 89941657 89941657 A G rs60527761 FAM13A Synonymous SNV S127S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.126 118211 chr6 24798029 24798029 A G rs958648984 ARMH2 Nonsynonymous SNV M101T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.4 118212 chr6 24848372 24848372 C T rs35331811 RIPOR2 Nonsynonymous SNV V349M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 25 118213 chr4 89311820 89311820 G C HERC6 Synonymous SNV S151S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.17 118214 chr19 55224745 55224745 G A rs10418512 LILRP2 0 0 0.017 0 0 0 0 5 0 0 0 0 0.199 118215 chr6 169622299 169622299 G A rs139254686 THBS2 Nonsynonymous SNV P1089L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.58 118216 chr6 26463700 26463700 - T rs757153020 BTN2A1 Frameshift insertion I160Yfs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 118217 chr6 169625429 169625429 C T THBS2 Nonsynonymous SNV E862K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 118218 chr6 28219758 28219758 T - rs755171752 ZKSCAN4 Star tloss M1? 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 118219 chr5 109124647 109124647 G T rs751012585 MAN2A1 Synonymous SNV S591S 0.007 0 0 6 8 0 0.015 0 0 0 0 0 7.423 118220 chr19 55997076 55997076 A G NAT14 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 118221 chr6 24718852 24718852 T C rs111465377 C6orf62 Synonymous SNV L15L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.3 118222 chr18 30349845 30349845 G A rs145116702 KLHL14 Nonsynonymous SNV A237V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 118223 chr6 26189104 26189104 G A rs139439104 H4C4 Synonymous SNV I67I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.052 118224 chr6 35745345 35745345 T G CLPSL2 Nonsynonymous SNV I65S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 7.312 118225 chr6 25726720 25726720 G A rs150563946 HIST1H2AA Synonymous SNV R12R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 7 118226 chr6 33638138 33638138 C A rs2229633 ITPR3 Nonsynonymous SNV D742E 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Benign 23.9 118227 chr6 33647765 33647765 G A ITPR3 Nonsynonymous SNV S1360N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.1 118228 chr6 34026903 34026903 C T rs750958549 GRM4 Nonsynonymous SNV R223H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 118229 chr6 34622421 34622421 T C rs7739387 ILRUN Synonymous SNV T98T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 6.152 118230 chr19 56720362 56720362 G C rs184245764 ZSCAN5C Nonsynonymous SNV K428N 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 5.208 118231 chr5 125968301 125968301 C T rs6887295 TEX43 Synonymous SNV V50V 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 16.39 118232 chr6 38825383 38825383 G T rs142028718 DNAH8 Synonymous SNV V1724V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 6.21 118233 chr5 127276762 127276762 C G rs1558148 LINC01184 0.007 0.013 0 1 8 5 0.003 0 0 0 0 0 12.79 118234 chr5 127419949 127419949 G A rs181849063 SLC12A2 Synonymous SNV A101A 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Likely benign 9.594 118235 chr5 73181868 73181868 A C ARHGEF28 Nonsynonymous SNV E770D 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 118236 chr6 28403641 28403641 C T rs377273737 ZSCAN23 Nonsynonymous SNV E135K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.64 118237 chr18 46385825 46385825 G T rs138055795 CTIF Synonymous SNV R564R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.76 118238 chr5 128301957 128301957 C A rs78557369 SLC27A6 Synonymous SNV R43R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 12.3 118239 chr5 128326090 128326090 A G rs61744871 SLC27A6 Nonsynonymous SNV K301R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 1.919 118240 chr18 47801746 47801746 G A rs564204623 MBD1 Synonymous SNV P287P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 14.25 118241 chr18 47803062 47803062 G T rs148657100 MBD1 Synonymous SNV R149R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 8.557 118242 chr5 129096215 129096215 G A rs150183188 MINAR2 Nonsynonymous SNV E104K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.9 118243 chr5 74325536 74325536 A G rs145008839 GCNT4 Synonymous SNV D109D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.104 118244 chr5 129100595 129100595 C T rs183670124 MINAR2 Nonsynonymous SNV R138W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 35 118245 chr5 74722202 74722202 T C rs61754510 CERT1 Synonymous SNV S150S 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Benign 10.23 118246 chr19 577940 577940 C T rs759983170 BSG Synonymous SNV R78R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 118247 chr6 32632749 32632749 A C rs281874782 HLA-DQB1 Nonsynonymous SNV Y69D 0.003 0.008 0 2 4 3 0.005 0 2 1 0 0 2.71 118248 chr6 32632781 32632781 A T rs1049066 HLA-DQB1 Nonsynonymous SNV L58H 0.01 0.005 0.007 2 12 2 0.005 2 3 1 1 0 0.015 118249 chr6 41712420 41712420 G A rs147655158 PGC Synonymous SNV T62T 0.009 0.003 0 3 11 1 0.008 0 0 0 0 0 0.327 118250 chr6 32632782 32632782 G A rs12722115 HLA-DQB1 Nonsynonymous SNV L58F 0.01 0.005 0.007 2 12 2 0.005 2 3 1 1 0 0.001 118251 chr6 32632801 32632801 G A rs3204373 HLA-DQB1 Synonymous SNV N51N 0.013 0.008 0.007 2 15 3 0.005 2 3 1 1 0 9.49 118252 chr5 75973066 75973066 A G rs10454915 IQGAP2 Nonsynonymous SNV N680S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 18.81 118253 chr6 32632820 32632820 C G rs1130375 HLA-DQB1 Nonsynonymous SNV G45A 0.012 0.013 0.007 1 14 5 0.003 2 5 2 1 0 0.01 118254 chr6 32632833 32632833 A G rs12722107 HLA-DQB1 Nonsynonymous SNV F41L 0.013 0.013 0.007 2 15 5 0.005 2 6 2 1 1 0.001 118255 chr6 42110133 42110133 T C rs138013556 C6orf132 Nonsynonymous SNV K17R 0.014 0.018 0.007 3 16 7 0.008 2 0 0 0 0 19.48 118256 chr6 34952983 34952983 G T rs200028172 ANKS1A Synonymous SNV G379G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.915 118257 chr19 58491174 58491174 T G ZNF606 Nonsynonymous SNV T202P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 118258 chr19 51466702 51466702 C T KLK6 Nonsynonymous SNV A101T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.23 118259 chr19 58928890 58928890 C T rs371220460 ZNF584 Synonymous SNV Y290Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 118260 chr6 43008764 43008764 C T rs36004037 CUL7 Nonsynonymous SNV R1316Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 27.8 118261 chr5 78945006 78945006 T C rs373887353 TENT2 Synonymous SNV Y340Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 118262 chr19 58982131 58982131 C T rs11550924 ZNF324 Nonsynonymous SNV S91F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 118263 chr6 41909325 41909325 C A rs150526537 CCND3 Synonymous SNV L21L 0.01 0.005 0 0 12 2 0 0 0 0 0 0 8.561 118264 chr19 59060889 59060889 G A rs139425078 TRIM28 Synonymous SNV P618P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.11 118265 chr5 137476419 137476419 C T rs149148720 BRD8 Nonsynonymous SNV R1197Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.32 118266 chr6 35604934 35604934 A G rs149315947 FKBP5 Nonsynonymous SNV I36T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.7 118267 chr6 43023661 43023661 C T MRPL2 Nonsynonymous SNV R202Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.5 118268 chr5 89979460 89979460 G A rs757418364 ADGRV1 Nonsynonymous SNV D1908N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 118269 chr6 36929735 36929735 A - PI16 K193Rfs*21 0.001 0.003 0 0 1 1 0 0 0 0 0 0 118270 chr6 36929737 36929737 G T rs774586020 PI16 Nonsynonymous SNV K193N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.81 118271 chr19 13925495 13925495 G A rs770212002 ZSWIM4 Synonymous SNV P449P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.372 118272 chr19 52448666 52448666 A C rs755058964 ZNF613 Nonsynonymous SNV R510S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.9 118273 chr5 140187177 140187177 A G rs551466956 PCDHA4 Synonymous SNV A135A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.316 118274 chr6 39046794 39046794 G A rs10305492 GLP1R Nonsynonymous SNV A316T 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 26.1 118275 chr5 140202607 140202607 G A PCDHA5 Nonsynonymous SNV S416N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.452 118276 chr6 4995464 4995464 C T rs12332997 RPP40 Nonsynonymous SNV V291I 0.014 0.023 0.031 3 16 9 0.008 9 0 0 0 0 26.4 118277 chr5 140480367 140480367 T G rs143918470 PCDHB3 Nonsynonymous SNV I45R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 118278 chr5 98236703 98236705 TCT - rs761944491 CHD1 E223del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 118279 chr6 51524717 51524717 A G rs773610449 PKHD1 Nonsynonymous SNV F3403L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 118280 chr6 42075069 42075069 A G rs55772414 C6orf132 Nonsynonymous SNV L194S 0.003 0.008 0.01 3 3 3 0.008 3 1 1 1 1 0.002 118281 chr18 77171164 77171164 G A rs76525142 NFATC1 Nonsynonymous SNV D297N 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 Likely benign 28.6 118282 chr5 145838593 145838593 G A rs140816235 TCERG1 Synonymous SNV A195A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.311 118283 chr5 140782567 140782567 A G rs766133958 PCDHGA9 Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 118284 chr19 53761857 53761857 G T rs112986288 VN1R2 Nonsynonymous SNV V77F 0.006 0.003 0.02 7 7 1 0.018 6 0 0 0 0 9.893 118285 chr19 53855809 53855809 A C rs535557564 ZNF845 Synonymous SNV R627R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.125 118286 chr6 109770005 109770005 C T rs200751714 MICAL1 Nonsynonymous SNV D446N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.83 118287 chr6 46661818 46661818 A G rs753821733 TDRD6 Nonsynonymous SNV R1985G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 118288 chr6 64940625 64940625 G A rs200374024 EYS Nonsynonymous SNV P2095L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.41 118289 chr6 56434712 56434712 G T rs138967674 DST Nonsynonymous SNV P1984H 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 Benign 27.5 118290 chr5 1489876 1489876 G A rs145565482 LPCAT1 Synonymous SNV N197N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.109 118291 chr6 637795 637795 G C rs148665259 EXOC2 Synonymous SNV P8P 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.016 118292 chr6 116289813 116289818 GTGTTG - rs773120438 FRK S184_T185del 0.001 0 0 0 1 0 0 0 0 0 0 0 118293 chr6 64423055 64423057 TGT - rs765342543 PHF3 V1771del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 118294 chr6 116289820 116289820 A C rs745410841 FRK Nonsynonymous SNV F183L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 118295 chr6 116289822 116289826 AGATT - rs760546159 FRK R181Sfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 118296 chr6 116289828 116289828 T - rs771323653 FRK R181Efs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 118297 chr6 70926645 70926645 G A rs567606245 COL9A1 Synonymous SNV T664T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.55 118298 chr6 52141888 52141888 G A MCM3 Nonsynonymous SNV A335V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 118299 chr6 47763066 47763066 G A rs780695747 OPN5 Nonsynonymous SNV V175I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.1 118300 chr5 150488079 150488079 C T rs368344684 ANXA6 Nonsynonymous SNV D541N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 118301 chr6 76022793 76022793 C T rs757733034 FILIP1 Nonsynonymous SNV E919K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.2 118302 chr5 150906831 150906831 C T rs777908507 FAT2 Synonymous SNV P3424P 0.003 0 0 0 4 0 0 0 0 0 0 0 16.6 118303 chr6 76373207 76373207 A C rs201645101 SENP6 Nonsynonymous SNV T316P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 118304 chr6 51889474 51889474 C T rs141103838 PKHD1 Nonsynonymous SNV G1712R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 118305 chr6 56499708 56499708 T C DST Nonsynonymous SNV N540S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 118306 chr6 131199299 131199299 C T rs201590756 EPB41L2 Nonsynonymous SNV R663H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 118307 chr1 100624855 100624855 A G rs756644831 LRRC39 Synonymous SNV D112D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.711 118308 chr1 10715762 10715762 C T rs150917673 CASZ1 Nonsynonymous SNV V537I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 27.6 118309 chr19 2811643 2811643 G A rs199651055 THOP1 Nonsynonymous SNV A607T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 29.1 118310 chr19 19389559 19389559 G A rs375612663 SUGP1 Synonymous SNV I525I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.51 118311 chr6 90337413 90337413 C G rs753261866 ANKRD6 Nonsynonymous SNV Q436E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 118312 chr6 72922911 72922911 G A rs9446600 RIMS1 Nonsynonymous SNV R29Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.335 118313 chr6 136683776 136683793 GGCTGGAGCTGGGGCCGA - rs780805556 MAP7 S347_A352del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 118314 chr6 13711682 13711682 - GCTGCTGCTGCTGTT rs763732069 RANBP9 Q18_L19insQQQQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 118315 chr5 158526458 158526458 C T rs775664953 EBF1 Nonsynonymous SNV R10Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 118316 chr6 138725734 138725734 G A rs1002196582 HEBP2 Synonymous SNV Q34Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.36 118317 chr6 90605513 90605513 T A rs41273337 GJA10 Nonsynonymous SNV H442Q 0.004 0.003 0.01 4 5 1 0.01 3 0 0 0 0 8.334 118318 chr19 56424569 56424569 C T rs61740413 NLRP13 Nonsynonymous SNV R205H 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 8.749 118319 chr6 7581590 7581590 G C rs142803672 DSP Nonsynonymous SNV E1723Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 118320 chr6 146056427 146056427 C G rs550455609 EPM2A Nonsynonymous SNV E70Q 0.005 0 0 0 6 0 0 0 1 0 0 0 Uncertain significance 1.037 118321 chr19 56539179 56539179 T G rs764101909 NLRP5 Nonsynonymous SNV V527G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.04 118322 chr1 110921565 110921565 C T rs572174202 SLC16A4 Nonsynonymous SNV A204T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 118323 chr6 79655872 79655872 A G PHIP Synonymous SNV A1492A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.759 118324 chr6 74528127 74528127 A G rs35238647 CD109 Nonsynonymous SNV R1233G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.79 118325 chr7 100231138 100231138 A T rs80338879 TFR2 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 21.6 118326 chr6 75953484 75953484 G C rs370057500 COX7A2 Nonsynonymous SNV F21L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.003 118327 chr6 80626456 80626456 C G rs148919174 ELOVL4 Nonsynonymous SNV E272Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 3.555 118328 chr19 3977289 3977289 G A rs35805642 EEF2 Synonymous SNV H769H 0.004 0.005 0.01 5 5 2 0.013 3 0 0 0 0 9.375 118329 chr6 149699764 149699764 A G rs751616426 TAB2 Nonsynonymous SNV Q238R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.864 118330 chr19 4171897 4171897 C T rs147172080 CREB3L3 Synonymous SNV D438D 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 4.177 118331 chr1 111992179 111992179 G A rs368018920 ATP5PB Nonsynonymous SNV V6I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 118332 chr5 174870072 174870072 C T rs146816422 DRD1 Nonsynonymous SNV G11R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.451 118333 chr6 84234386 84234386 A G rs202217440 PRSS35 Nonsynonymous SNV N409S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.483 118334 chr6 8430297 8430297 T C SLC35B3 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.61 118335 chr6 90371168 90371168 C T rs752648941 MDN1 Nonsynonymous SNV D4899N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.9 118336 chr1 116931628 116931628 C A rs12079419 ATP1A1 Synonymous SNV T247T 0.01 0.013 0.003 5 12 5 0.013 1 0 0 0 0 20.8 118337 chr5 176519710 176519710 G A rs150737523 FGFR4 Nonsynonymous SNV A328T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 33 118338 chr6 90573933 90573933 T C rs757139854 CASP8AP2 Synonymous SNV Y835Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 16.04 118339 chr6 152763321 152763321 C A SYNE1 Synonymous SNV A1306A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.23 118340 chr6 152776572 152776572 G A rs201146062 SYNE1 Nonsynonymous SNV R968W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 118341 chr6 90121606 90121606 T C rs376790069 RRAGD Nonsynonymous SNV D36G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.1 118342 chr1 118530819 118530819 G A rs376841705 SPAG17 Nonsynonymous SNV H1844Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 118343 chr6 97676949 97676949 G A rs375166906 MMS22L Synonymous SNV I337I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.982 118344 chr5 178392612 178392612 C T rs755472164 ZNF454 Nonsynonymous SNV R403W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.7 118345 chr19 35940721 35940721 G T rs117215242 FFAR2 Synonymous SNV R35R 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 Benign 3.581 118346 chr6 158873293 158873293 G A rs41266333 TULP4 Synonymous SNV G284G 0.004 0.01 0 2 5 4 0.005 0 0 1 0 0 11.15 118347 chr19 5915037 5915037 C T rs774638419 CAPS Synonymous SNV D116D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.82 118348 chr6 158923864 158923864 G A rs138066719 TULP4 Nonsynonymous SNV A1057T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.932 118349 chr6 159146670 159146670 G A rs372836525 SYTL3 0.003 0 0 0 3 0 0 0 0 0 0 0 22 118350 chr1 144931699 144931699 T A rs144526186 PDE4DIP Nonsynonymous SNV I4F 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.67 118351 chr7 100405113 100405113 G A rs201350870 EPHB4 Synonymous SNV Y736Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.8 118352 chr6 159670138 159670138 G T rs200601030 FNDC1 Nonsynonymous SNV R1586S 0.001 0 0.014 0 1 0 0 4 0 0 0 0 3.529 118353 chr1 150959085 150959085 G A rs948683915 ANXA9 Nonsynonymous SNV R187H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 118354 chr5 179297262 179297262 T C rs407437 TBC1D9B Synonymous SNV T906T 0.002 0 0.02 1 2 0 0.003 6 0 0 2 0 0.045 118355 chr5 179297352 179297352 A G rs384668 TBC1D9B Synonymous SNV C876C 0.002 0 0.02 1 2 0 0.003 6 0 0 2 0 0.019 118356 chr5 179300131 179300131 T C rs269469 TBC1D9B Synonymous SNV K768K 0.002 0 0.02 1 2 0 0.003 6 0 0 2 0 9.177 118357 chr19 7677999 7677999 G A CAMSAP3 Nonsynonymous SNV E874K 0 0 0 2 0 0 0.005 0 0 0 0 0 22 118358 chr5 180047245 180047245 G A FLT4 Synonymous SNV L824L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 118359 chr5 180582561 180582561 A G rs992549696 OR2V2 Nonsynonymous SNV M207V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.17 118360 chr6 163899877 163899877 C T rs151172419 QKI Synonymous SNV T117T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 118361 chr7 100684081 100684081 T C rs753733193 MUC17 Synonymous SNV T3128T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.021 118362 chr19 39100297 39100297 A C rs56072295 MAP4K1 Synonymous SNV P315P 0.008 0.01 0.014 6 9 4 0.015 4 0 0 0 0 0.499 118363 chr1 153270610 153270610 T C rs780880043 PGLYRP3 Nonsynonymous SNV E283G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 8.129 118364 chr19 39371474 39371474 A T rs1036211657 SIRT2 Nonsynonymous SNV S234T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.6 118365 chr20 5282878 5282878 G A rs142257149 PROKR2 Synonymous SNV I321I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 11.25 118366 chr7 103163890 103163890 C T rs150236371 RELN Nonsynonymous SNV G2480S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 118367 chr19 8455347 8455347 C T rs565286209 RAB11B-AS1 0 0 0 3 0 0 0.008 0 0 0 0 0 11.24 118368 chr1 153745457 153745457 C T INTS3 Nonsynonymous SNV P984L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 118369 chr1 154300587 154300587 C T ATP8B2 Synonymous SNV S23S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 118370 chr19 39998641 39998641 G A rs746856386 DLL3 Synonymous SNV L615L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.583 118371 chr1 155160698 155160698 A T rs35819649 MUC1 Nonsynonymous SNV S66T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.3 118372 chr1 155648950 155648950 C T rs370921578 SCARNA26A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.39 118373 chr7 107580553 107580553 C A rs569355700 LAMB1 Synonymous SNV G1214G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 17.59 118374 chr7 113519161 113519162 CT - rs527638422 PPP1R3A Q662Rfs*7 0.002 0 0.003 0 2 0 0 1 0 0 0 0 118375 chr1 156169719 156169719 G A SLC25A44 Nonsynonymous SNV M27I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.82 118376 chr7 107849931 107849931 T C rs202209307 NRCAM Nonsynonymous SNV N312D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.62 118377 chr7 108524528 108524528 T C rs75599531 C7orf66 Nonsynonymous SNV H21R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 8.485 118378 chr1 156280969 156280969 G A rs2230195 CCT3 Synonymous SNV L353L 0 0.003 0.01 0 0 1 0 3 0 0 0 0 10.64 118379 chr1 156280971 156280971 G A rs2230194 CCT3 Nonsynonymous SNV L353F 0 0.003 0.01 0 0 1 0 3 0 0 0 0 25.7 118380 chr6 17688738 17688738 C A NUP153 Nonsynonymous SNV V75F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.03 118381 chr7 111368487 111368487 G C DOCK4 Nonsynonymous SNV P1915R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 118382 chr7 117292919 117292919 A G rs1800131 CFTR Synonymous SNV T1299T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.222 118383 chr7 116528207 116528207 T C rs138723819 CAPZA2 Synonymous SNV I22I 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 10.33 118384 chr7 120382600 120382600 G A rs757922549 KCND2 Nonsynonymous SNV G471S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.81 118385 chr19 9047904 9047904 C T rs746394537 MUC16 Nonsynonymous SNV G11243R 0 0 0 3 0 0 0.008 0 0 0 0 0 15.27 118386 chr19 44001340 44001340 - TGGGCAG rs757768966 PHLDB3 Frameshift insertion R252Pfs*89 0.001 0 0 0 1 0 0 0 0 0 0 0 118387 chr19 44001343 44001343 - CG rs746275869 PHLDB3 Frameshift insertion D251Afs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 118388 chr20 23016148 23016148 G T rs200128778 SSTR4 Nonsynonymous SNV G10W 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 9.529 118389 chr6 26027294 26027294 G T H4C2 Nonsynonymous SNV L63M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 118390 chr5 52240850 52240850 C A rs151102756 ITGA1 Nonsynonymous SNV S1121R 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 Benign 22.8 118391 chr7 105254725 105254725 A G rs368256993 ATXN7L1 Synonymous SNV L562L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.736 118392 chr20 25457162 25457162 T G rs958815834 NINL Nonsynonymous SNV E922A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.482 118393 chr19 9083420 9083420 C G rs372039627 MUC16 Nonsynonymous SNV G2799R 0 0 0 3 0 0 0.008 0 0 0 0 0 0.053 118394 chr7 103191647 103191647 G A RELN Nonsynonymous SNV L2057F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 118395 chr5 56777771 56777771 C G rs762885038 ACTBL2 Nonsynonymous SNV R255P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 118396 chr7 120935686 120935686 G A rs749886278 CPED1 Nonsynonymous SNV A1021T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.627 118397 chr6 34730395 34730395 C T rs34427075 SNRPC Synonymous SNV C25C 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 12.11 118398 chr19 9236985 9236985 G T rs375002810 OR7G3 Synonymous SNV I214I 0 0 0 3 0 0 0.008 0 0 0 0 0 7.173 118399 chr6 34839644 34839644 G A rs34672415 UHRF1BP1 Nonsynonymous SNV R1380K 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 0.038 118400 chr19 10205580 10205580 G A rs747692944 ANGPTL6 Nonsynonymous SNV P206L 0 0 0 3 0 0 0.008 0 0 0 0 0 15.22 118401 chr19 10224359 10224362 AGTG - rs750437200 P2RY11, PPAN-P2RY11 S24Gfs*56 0 0 0 3 0 0 0.008 0 0 0 0 0 118402 chr19 10249186 10249186 G A rs751126457 DNMT1 Synonymous SNV H1332H 0 0 0 3 0 0 0.008 0 0 0 0 0 7.219 118403 chr7 135262681 135262681 C T rs12707242 NUP205 Synonymous SNV G262G 0.01 0.005 0.003 2 12 2 0.005 1 0 0 0 0 Benign 14.67 118404 chr6 35765043 35765043 A G rs2766597 CLPS Nonsynonymous SNV L8P 0.014 0.01 0.014 5 17 4 0.013 4 0 0 0 0 24.5 118405 chr7 117351826 117351826 G A rs150547726 CTTNBP2 Nonsynonymous SNV P1568L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 28.2 118406 chr7 138312915 138312915 C T rs369769509 SVOPL Nonsynonymous SNV G201S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.5 118407 chr20 39802631 39802631 A G rs200775105 PLCG1 Nonsynonymous SNV I1209V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 6.136 118408 chr1 165677933 165677933 C T rs4341347 LOC440700 0 0 0.041 0 0 0 0 12 0 0 0 0 5.622 118409 chr7 121002964 121002964 G A rs575490353 FAM3C Synonymous SNV D123D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.23 118410 chr7 138916631 138916631 A C rs929887175 UBN2 Nonsynonymous SNV K134T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.244 118411 chr7 129046284 129046284 C T AHCYL2 Synonymous SNV D423D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 118412 chr19 47422265 47422265 G A rs748745406 ARHGAP35 Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.235 118413 chr1 171073098 171073098 A T rs767842894 FMO3 Nonsynonymous SNV K102M 0 0 0.007 0 0 0 0 2 0 0 0 0 27 118414 chr1 171505291 171505291 A G rs376665075 PRRC2C Nonsynonymous SNV M721V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 118415 chr7 141490821 141490821 G A rs148483148 TAS2R5 Synonymous SNV A220A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 118416 chr1 172571286 172571286 G A rs199640710 SUCO Nonsynonymous SNV R471Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 118417 chr19 12985093 12985093 G A rs199969087 MAST1 Synonymous SNV A1374A 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 7.912 118418 chr7 128843396 128843396 G A rs61746143 SMO Nonsynonymous SNV R168H 0.01 0.008 0.01 4 12 3 0.01 3 0 0 0 0 Benign 32 118419 chr20 45808525 45808525 C T rs781770395 EYA2 Synonymous SNV T426T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 118420 chr1 173835347 173835347 G A rs114972656 SNORA103 0 0 0.007 0 0 0 0 2 0 0 0 0 0.524 118421 chr6 42937452 42937459 AGGCCTCC - rs267608216 PEX6 E439Gfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 118422 chr5 79026277 79026277 T C rs921455644 CMYA5 Synonymous SNV I563I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.405 118423 chr6 43968843 43968843 A G rs138433716 C6orf223, LOC101929705 0.003 0 0.007 0 3 0 0 2 0 0 0 0 5.347 118424 chr7 134133174 134133174 G A rs372432846 AKR1B1 Synonymous SNV T64T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 118425 chr1 17603081 17603081 G A rs376389875 PADI3 Nonsynonymous SNV V459M 0 0 0.007 0 0 0 0 2 0 0 0 0 26 118426 chr19 49206403 49206403 T C rs748945265 FUT2 Nonsynonymous SNV W64R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 118427 chr1 176175764 176175764 G A rs151228500 COP1 Synonymous SNV A117A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.75 118428 chr7 139575458 139575458 T G rs17161199 TBXAS1 Nonsynonymous SNV S58A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 5.574 118429 chr20 50768741 50768741 T C rs759475656 ZFP64 Nonsynonymous SNV I610V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 4.267 118430 chr7 140301286 140301286 G A rs374414521 DENND2A Synonymous SNV P304P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.24 118431 chr7 149484603 149484603 C T rs186551360 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.43 118432 chr1 179561835 179561835 C T TDRD5 Stop gain Q29X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 118433 chr7 149497506 149497506 G A rs77223779 SSPO 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.36 118434 chr7 149516883 149516883 C T rs748308775 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.48 118435 chr7 140055485 140055485 G A rs186882556 SLC37A3 Nonsynonymous SNV L201F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 118436 chr7 143208799 143208799 A G rs200090373 OR10AC1 Nonsynonymous SNV I69T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 118437 chr7 143208800 143208800 - GCA OR10AC1 A68_I69insC 0.003 0 0 0 3 0 0 0 0 0 0 0 118438 chr7 144320308 144320308 G C rs778868865 TPK1 Nonsynonymous SNV T97S 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 118439 chr7 140396506 140396506 G A rs2930314 NDUFB2-AS1 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.821 118440 chr7 150325310 150325310 C T rs138521615 GIMAP6 Nonsynonymous SNV R51H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 118441 chr7 1484330 1484330 G A rs762859342 MICALL2 Nonsynonymous SNV A459V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 118442 chr7 150325378 150325378 T C rs114540180 GIMAP6, GIMAP6 Nonsynonymous SNV Q173R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 118443 chr19 16606607 16606607 - A CALR3 Stop gain R50* 0 0 0 3 0 0 0.008 0 0 0 0 0 118444 chr7 149473584 149473584 G A rs181803407 SSPO 0.014 0.01 0.014 3 16 4 0.008 4 0 0 0 0 4.547 118445 chr7 142573544 142573544 C T rs376410525 TRPV6 Synonymous SNV L332L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.85 118446 chr6 52142400 52142400 C T rs2307323 MCM3 Synonymous SNV L276L 0.007 0 0 0 8 0 0 0 0 0 0 0 15.81 118447 chr7 150812683 150812683 G A rs17857291 AGAP3 Nonsynonymous SNV G276S 0.013 0.023 0.007 8 15 9 0.021 2 7 4 1 4 3.825 118448 chr5 98239535 98239535 T C CHD1 Synonymous SNV Q111Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 118449 chr7 151879499 151879499 T G KMT2C Nonsynonymous SNV N1816H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 118450 chr1 1888082 1888082 C T rs762637472 CFAP74 Nonsynonymous SNV D665N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.789 118451 chr7 144096850 144096850 C A NOBOX Nonsynonymous SNV S385I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 118452 chr1 1904458 1904458 C G rs764688551 CFAP74 Nonsynonymous SNV G235R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 4.394 118453 chr19 51607734 51607734 G A rs544282661 CTU1 Synonymous SNV C31C 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 12.51 118454 chr1 19208316 19208316 G A rs60427141 ALDH4A1 Synonymous SNV I188I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 12.91 118455 chr1 19209759 19209759 C T rs79637190 MIR4695 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 9.17 118456 chr7 17375320 17375320 A G rs145249237 AHR Nonsynonymous SNV N357S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.019 118457 chr6 71377807 71377807 G A rs775942332 SMAP1 Synonymous SNV E27E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 118458 chr6 116599859 116599859 T C rs45490498 TSPYL1 Nonsynonymous SNV T379A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Benign 16.03 118459 chr6 110036294 110036294 T C rs769687105 FIG4 Nonsynonymous SNV V27A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.9 118460 chr1 197071924 197071924 A G ASPM Nonsynonymous SNV Y2153H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.1 118461 chr7 150171319 150171319 T C rs2293283 GIMAP8 Nonsynonymous SNV I301T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 18.29 118462 chr7 15652068 15652068 T G rs2237493 MEOX2 Nonsynonymous SNV I287L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.687 118463 chr7 150174660 150174660 G A GIMAP8 Nonsynonymous SNV R597Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.2 118464 chr6 117127792 117127792 A G rs929377604 GPRC6A Nonsynonymous SNV M359T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.022 118465 chr7 158889635 158889635 T C rs114243022 VIPR2 Nonsynonymous SNV N67S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.238 118466 chr19 52918485 52918485 G - rs562901913 ZNF528 I129Ffs*32 0.001 0.003 0 0 1 1 0 0 0 0 0 0 118467 chr7 150845775 150845775 G A rs760715412 GBX1 Synonymous SNV P331P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.19 118468 chr7 150932678 150932678 G A rs199940789 CHPF2 Nonsynonymous SNV G270S 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 14.41 118469 chr21 27372400 27372400 G A rs150676543 APP Synonymous SNV Y265Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.425 118470 chr21 27840915 27840915 A G rs749050568 CYYR1 Nonsynonymous SNV Y125H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 11.4 118471 chr6 87796243 87796243 C T rs764470302 CGA Nonsynonymous SNV R58K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.549 118472 chr21 31002883 31002883 - A GRIK1-AS2 0.006 0 0 0 7 0 0 0 0 0 0 0 118473 chr7 23728923 23728923 C T rs146280373 FAM221A Nonsynonymous SNV P34L 0.003 0 0 7 3 0 0.018 0 0 0 0 0 26.8 118474 chr1 201952148 201952148 T C RNPEP Synonymous SNV Y118Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.329 118475 chr6 129766869 129766869 A T rs371697379 LAMA2 Nonsynonymous SNV D2111V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 118476 chr19 53856542 53856542 G A rs201479389 ZNF845 Nonsynonymous SNV A872T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.991 118477 chr7 2951925 2951925 C T rs147381531 CARD11 Nonsynonymous SNV V1009I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 118478 chr7 158663992 158663992 A - WDR60 K31Rfs*28 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 118479 chr1 202932795 202932795 T C rs552651151 CYB5R1 Nonsynonymous SNV Q207R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 118480 chr7 32909992 32909992 A G KBTBD2 Synonymous SNV P279P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.147 118481 chr1 203317245 203317245 G T FMOD Nonsynonymous SNV P52T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 118482 chr7 18067174 18067174 T G rs199799262 PRPS1L1 Nonsynonymous SNV K78Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.9 118483 chr6 142715090 142715090 G A ADGRG6 Synonymous SNV E445E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.023 118484 chr7 2054196 2054196 G A rs769084074 MAD1L1 Nonsynonymous SNV R342C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 118485 chr1 204429786 204429786 C T rs529355708 PIK3C2B Synonymous SNV K438K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 118486 chr6 97578748 97578748 G A rs781002914 KLHL32 Nonsynonymous SNV R374Q 0.003 0 0 0 4 0 0 0 0 0 0 0 26.9 118487 chr7 30795070 30795070 G A rs1006499214 INMT Nonsynonymous SNV R131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 118488 chr19 35523581 35523581 A G SCN1B Nonsynonymous SNV T64A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.03 118489 chr21 37603142 37603142 T A rs926225796 DOP1B Nonsynonymous SNV I687N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.68 118490 chr1 205238627 205238627 C T rs201081913 TMCC2 Nonsynonymous SNV R208C 0 0 0.01 0 0 0 0 3 0 0 0 0 34 118491 chr1 205884039 205884039 A G rs16856448 SLC26A9 Nonsynonymous SNV V882A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.372 118492 chr1 206649528 206649528 C T rs1136841 IKBKE Synonymous SNV A36A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.16 118493 chr1 206665052 206665052 C T rs12059562 IKBKE Nonsynonymous SNV A517V 0.007 0.003 0.003 0 8 1 0 1 1 0 0 0 6.789 118494 chr19 55743188 55743188 C T rs61735026 PPP6R1 Nonsynonymous SNV R763H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.803 118495 chr7 38766545 38766545 G A VPS41 Synonymous SNV H791H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.49 118496 chr7 38908761 38908761 C T rs746867972 VPS41 Nonsynonymous SNV M51I 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 17.29 118497 chr1 207646222 207646222 G A rs143614333 CR2 Nonsynonymous SNV G559E 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 118498 chr1 207760852 207760852 G A rs140566582 CR1 Nonsynonymous SNV M1434I 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 19.38 118499 chr7 39649463 39649463 A G rs889246714 YAE1 Nonsynonymous SNV R167G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.009 118500 chr7 45142058 45142058 G A rs191115021 TBRG4 Synonymous SNV G293G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.199 118501 chr1 209933528 209933528 G A rs2076149 TRAF3IP3 Synonymous SNV T48T 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 12.64 118502 chr1 209952707 209952707 T C rs557322654 TRAF3IP3 Synonymous SNV L170L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.935 118503 chr1 209964080 209964080 C T rs2235371 IRF6 Nonsynonymous SNV V179I 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 24.8 118504 chr6 151152230 151152230 T C rs143818607 PLEKHG1 Synonymous SNV Y622Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.019 118505 chr6 151197256 151197256 A T MTHFD1L Synonymous SNV L86L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.024 118506 chr1 2114149 2114149 G A rs904659590 PRKCZ-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.135 118507 chr7 31592725 31592725 C T rs550681504 ITPRID1 Synonymous SNV S29S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.88 118508 chr19 56424543 56424543 C G rs762522841 NLRP13 Nonsynonymous SNV E214Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.49 118509 chr6 158074592 158074592 C T rs8180688 ZDHHC14 Nonsynonymous SNV T334M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.9 118510 chr1 214815493 214815493 A G CENPF Nonsynonymous SNV K1271R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 118511 chr19 39669106 39669106 C G rs56084716 PAK4 Nonsynonymous SNV R402G 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 27.7 118512 chr6 154412346 154412346 C T rs200986335 OPRM1 Synonymous SNV Y201Y 0.002 0 0 0 2 0 0 0 0 0 0 0 6.436 118513 chr7 50191045 50191045 - T rs767486080 SPATA48 0.002 0 0.003 0 2 0 0 1 0 0 0 0 118514 chr1 218610709 218610709 A C rs755474865 TGFB2 Synonymous SNV L319L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.598 118515 chr7 38254701 38254701 A G rs574853669 STARD3NL Nonsynonymous SNV I126V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.79 118516 chr7 39504094 39504094 A C rs145961110 POU6F2 Nonsynonymous SNV N658H 0.005 0.003 0.003 0 6 1 0 1 1 0 0 0 15.96 118517 chr7 48312723 48312723 T G rs181907450 ABCA13 Nonsynonymous SNV W1154G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 24.4 118518 chr7 5529709 5529709 C A FBXL18 Nonsynonymous SNV G712V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.796 118519 chr1 2235321 2235321 C T rs536126761 SKI Synonymous SNV N418N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.21 118520 chr1 2237662 2237662 C T rs878854598 SKI Synonymous SNV G657G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.18 118521 chr1 225521135 225521135 C T rs563381872 DNAH14 Nonsynonymous SNV T3336I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.949 118522 chr21 47831210 47831210 A G PCNT Synonymous SNV Q1623Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.631 118523 chr6 170871054 170871067 AGCAGCAGCAGCAG ACAGCAG TBP Q57Hfs*65 0.001 0 0 0 1 0 0 0 0 0 0 0 118524 chr7 55912345 55912345 T C rs185819537 SEPTIN14 Nonsynonymous SNV K81R 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 10.1 118525 chr1 226822485 226822485 G A ITPKB Synonymous SNV L910L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 118526 chr7 73011550 73011550 C T rs202093717 MLXIPL Nonsynonymous SNV G522E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.87 118527 chr7 6038749 6038749 C G PMS2 Nonsynonymous SNV G126A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 118528 chr6 166923787 166923787 G A rs150080589 RPS6KA2 Synonymous SNV P21P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.756 118529 chr7 45125468 45125468 G A rs199865804 NACAD Nonsynonymous SNV A104V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.004 118530 chr22 19443225 19443225 T C rs752919426 UFD1 Nonsynonymous SNV I249V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.66 118531 chr7 75442641 75442641 G T CCL24 Stop gain C58X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 118532 chr20 1285981 1285981 C T rs200385437 SNPH Synonymous SNV D256D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.152 118533 chr22 19961715 19961715 G A rs907678586 ARVCF Nonsynonymous SNV L670F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 118534 chr7 48450173 48450173 C T rs115926528 ABCA13 Nonsynonymous SNV R4043C 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 15.26 118535 chr7 73471784 73471784 C T rs782074494 ELN Nonsynonymous SNV T477M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.642 118536 chr20 2083617 2083617 G A rs189156975 STK35 Synonymous SNV P166P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.97 118537 chr20 3016335 3016335 C T rs770908431 PTPRA Synonymous SNV D666D 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 11.85 118538 chr7 75693709 75693709 G A rs373614243 MDH2 Nonsynonymous SNV R187Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.7 118539 chr20 3212031 3212031 G A rs141705330 SLC4A11 Nonsynonymous SNV A314V 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.901 118540 chr19 45254495 45254495 C A BCL3 Nonsynonymous SNV P90T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.25 118541 chr6 26189065 26189065 C T rs757232898 H4C4 Synonymous SNV K80K 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 14.22 118542 chr22 24574137 24574137 C G rs140560210 CABIN1 Nonsynonymous SNV D2162E 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 23.9 118543 chr7 88423779 88423779 C T rs34781240 TEX47 Nonsynonymous SNV D160N 0.008 0 0 2 9 0 0.005 0 0 0 0 0 27.8 118544 chr7 12419146 12419146 T G rs372492047 VWDE Nonsynonymous SNV Q279P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.77 118545 chr7 6071167 6071167 A G ANKRD61 Nonsynonymous SNV N54S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 118546 chr7 126086135 126086135 A G GRM8 Nonsynonymous SNV S908P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 118547 chr7 81336641 81336641 A G rs775625219 HGF Synonymous SNV S527S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.42 118548 chr6 3113491 3113491 C T rs116040763 RIPK1 Nonsynonymous SNV T599M 0.003 0 0 0 4 0 0 0 0 0 0 0 Pathogenic 33 118549 chr7 82763604 82763604 T C rs778215184 PCLO Nonsynonymous SNV N1088D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 18.81 118550 chr7 128444799 128444799 G T rs947238105 CCDC136 Nonsynonymous SNV D256Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 118551 chr7 65439412 65439412 C T rs763043756 GUSB Nonsynonymous SNV V275I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.338 118552 chr7 92735052 92735052 G C rs146592813 SAMD9 Nonsynonymous SNV P120R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.312 118553 chr7 128845127 128845127 C T rs56318556 SMO Synonymous SNV Y207Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.73 118554 chr20 9440301 9440301 A G rs377707845 PLCB4 Nonsynonymous SNV Q1019R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.9 118555 chr7 89937168 89937168 G A rs11563551 CFAP69 Synonymous SNV K784K 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 16.08 118556 chr7 89939427 89939427 T C rs11563907 CFAP69 Synonymous SNV L835L 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 8.03 118557 chr7 131149161 131149161 A G rs778327822 MKLN1 Synonymous SNV L387L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.532 118558 chr22 30197031 30197031 T C rs34833047 ASCC2 Nonsynonymous SNV D368G 0.007 0.008 0.01 5 8 3 0.013 3 0 0 0 0 32 118559 chr7 134878164 134878164 - G WDR91 Frameshift insertion H519Pfs*91 0.004 0 0 0 5 0 0 0 0 0 0 0 118560 chr1 2433938 2433938 G A rs996327907 PLCH2 Nonsynonymous SNV A990T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 118561 chr8 103324450 103324450 C T rs140441478 UBR5 Synonymous SNV P725P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.82 118562 chr7 138593818 138593818 G A rs10277735 KIAA1549 Synonymous SNV T1065T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.5 118563 chr7 138596031 138596031 T C rs755689944 KIAA1549 Synonymous SNV T1002T 0.004 0 0 0 5 0 0 0 0 0 0 0 1.752 118564 chr1 244541773 244541773 C T rs144659720 C1orf100 Nonsynonymous SNV L53F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.74 118565 chr7 83675662 83675662 C T rs201176123 SEMA3A Synonymous SNV Q215Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 14.2 118566 chr19 49442719 49442719 G A rs371726493 DHDH Nonsynonymous SNV R127H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 34 118567 chr20 30689216 30689216 G A rs760472522 HCK Nonsynonymous SNV R471H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 118568 chr20 33296604 33296604 T C rs143408665 TP53INP2 Nonsynonymous SNV C21R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.71 118569 chr7 97832980 97832980 G A rs45488394 LMTK2 Nonsynonymous SNV S1401N 0.007 0.029 0.01 4 8 11 0.01 3 0 0 0 0 10.73 118570 chr8 114449045 114449045 T A rs200851733 CSMD3 Nonsynonymous SNV E13D 0.003 0 0 0 3 0 0 0 0 0 0 0 20.2 118571 chr19 49963010 49963010 G A rs148896743 ALDH16A1 Nonsynonymous SNV R135Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.5 118572 chr8 11666230 11666230 - TCCCACTCCCACTCCCAC FDFT1 S77_C78insHSHSHS 0.002 0 0 0 2 0 0 0 0 0 0 0 118573 chr19 50155196 50155196 A G SCAF1 Nonsynonymous SNV K517R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.8 118574 chr7 99696771 99696771 G A rs150260409 MCM7 Nonsynonymous SNV R153W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 118575 chr7 150171425 150171425 C T GIMAP8 Synonymous SNV Y336Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 118576 chr19 50781385 50781385 G T rs202242879 MYH14 Nonsynonymous SNV V1250L 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.5 118577 chr8 124266167 124266167 T G rs759506087 ZHX1 Nonsynonymous SNV M674L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.772 118578 chr22 41542753 41542753 A C rs61756763 EP300 Synonymous SNV L688L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.81 118579 chr22 41626186 41626186 G A rs199544355 L3MBTL2 Synonymous SNV S683S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.034 118580 chr8 10465338 10465338 T A rs143386673 RP1L1 Synonymous SNV A2090A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.669 118581 chr22 41635546 41635546 G A rs145310760 CHADL Synonymous SNV A29A 0.003 0 0 0 4 0 0 0 0 0 0 0 7.965 118582 chr8 10465351 10465377 TCTACATCTTCTGACTCTGGGTGGGCC - rs760812483 RP1L1 E2077_V2085del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 118583 chr8 10465391 10465391 C - RP1L1 E2073Rfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 118584 chr8 10465394 10465434 GGACCTCCCCTTCAGCCTCCTGTGCCTCCTCTTCTGCCTCC - RP1L1 E2059Gfs*50 0 0.003 0 0 0 1 0 0 0 0 0 0 118585 chr1 2529738 2529738 T C MMEL1 Nonsynonymous SNV T394A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 118586 chr1 26150202 26150202 A G rs34173733 MTFR1L Nonsynonymous SNV N31S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 118587 chr8 124525537 124525537 G A rs35117009 FBXO32 Synonymous SNV V39V 0.012 0.003 0.003 5 14 1 0.013 1 0 0 0 0 12.91 118588 chr1 26189652 26189652 C T rs55948644 PAQR7 Nonsynonymous SNV V227M 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 17.35 118589 chr8 128099371 128099371 - AGGAGAGTATCTCCTCTGTATTGG rs139847802 PRNCR1 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 118590 chr1 26349625 26349625 G A rs34277678 EXTL1 Nonsynonymous SNV R163H 0 0 0.01 0 0 0 0 3 0 0 1 0 12.1 118591 chr8 10467624 10467624 - ATTACTTTAGTCCCC rs760634189 RP1L1 E1328_E1329insGTKVI 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 118592 chr1 26349886 26349886 G C rs34941925 EXTL1 Nonsynonymous SNV G250A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.893 118593 chr8 10467627 10467627 - AACTGCACCCCCTCTTCTTGCAGCCCTTCTTCC rs757725027 RP1L1 E1340_T1341insGLQEEGVQLEE 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 118594 chr1 26355691 26355691 C T rs149608406 EXTL1 Nonsynonymous SNV R263C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 118595 chr7 150884003 150884003 C T rs104886488 ASB10 Nonsynonymous SNV R72H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 20.5 118596 chr1 26384907 26384907 C T rs61749355 TRIM63 Nonsynonymous SNV E269K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.4 118597 chr7 151853090 151853090 G A rs147168446 KMT2C Synonymous SNV D3955D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.803 118598 chr1 26672613 26672613 C T rs375512215 CRYBG2 Nonsynonymous SNV R179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 118599 chr8 11637276 11637276 G A rs8191613 NEIL2 Nonsynonymous SNV R42Q 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 0.107 118600 chr8 11643553 11643553 G T rs8191664 NEIL2 Nonsynonymous SNV R196L 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 0.752 118601 chr7 156451210 156451210 G A RNF32 Synonymous SNV R210R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.881 118602 chr8 13424840 13424840 G T rs184032075 C8orf48 Nonsynonymous SNV V114L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.008 118603 chr19 52207585 52207585 T A rs141873740 SPACA6 Nonsynonymous SNV W265R 0.011 0.008 0.003 11 13 3 0.028 1 0 0 0 0 13.9 118604 chr8 141381109 141381109 C T rs767003560 TRAPPC9 Synonymous SNV T426T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.48 118605 chr1 31192128 31192128 C T rs3790493 MATN1-AS1 0 0 0.048 0 0 0 0 14 0 0 1 0 9.035 118606 chr8 121228621 121228621 C T rs372132715 COL14A1 Synonymous SNV I543I 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 17.75 118607 chr20 47266104 47266104 G A rs113202277 PREX1 Synonymous SNV N1013N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.186 118608 chr19 52272840 52272840 G A rs148745659 FPR2 Nonsynonymous SNV R310Q 0 0 0 3 0 0 0.008 0 0 0 0 0 21.1 118609 chr7 18066968 18066972 ATACA - rs142789488 PRPS1L1 L145Cfs*15 0.013 0.005 0.01 1 15 2 0.003 3 1 0 0 0 118610 chr20 49218784 49218784 G A rs147584980 RIPOR3 Nonsynonymous SNV S495L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.14 118611 chr1 3329057 3329057 G A rs199998420 PRDM16 Nonsynonymous SNV G766S 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.511 118612 chr8 142178430 142178430 C T rs201427766 DENND3 Nonsynonymous SNV A694V 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 11.58 118613 chr8 143546035 143546035 G C rs113034224 ADGRB1 Nonsynonymous SNV R159P 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 9.371 118614 chr1 33361287 33361287 G A rs10914632 TMEM54 Nonsynonymous SNV L90F 0.006 0.003 0.017 3 7 1 0.008 5 0 0 0 0 22.8 118615 chr1 33625439 33625439 G A rs747566623 TRIM62 Nonsynonymous SNV T83M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 118616 chr8 125989933 125989933 A - rs769528074 ZNF572 K475Nfs*17 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 118617 chr22 47189542 47189542 C T rs768287353 TBC1D22A Synonymous SNV S69S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.39 118618 chr8 143866726 143866726 C - rs761185629 LY6D A100Hfs*18 0.001 0.003 0 0 1 1 0 0 0 0 0 0 118619 chr1 3425219 3425219 G A rs111806497 MEGF6 Synonymous SNV S521S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.916 118620 chr1 35658628 35658628 C T rs369530122 SFPQ Nonsynonymous SNV S8N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 118621 chr1 3732885 3732885 C T rs139076247 CEP104 Nonsynonymous SNV R874H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 118622 chr20 56803676 56803676 - CCG rs564097797 ANKRD60 R11_A12insR 0.004 0.008 0 6 5 3 0.015 0 0 1 0 3 118623 chr22 50885652 50885652 G A rs751391089 SBF1 Synonymous SNV R1842R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.87 118624 chr22 50902791 50902791 G A rs370719924 SBF1 Synonymous SNV Y573Y 0.003 0 0 0 3 0 0 0 0 0 0 0 3.899 118625 chr1 38272557 38272557 C G YRDC Nonsynonymous SNV S199T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 118626 chr7 27565986 27565986 C T rs765621312 HIBADH Synonymous SNV L286L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.07 118627 chr19 54655963 54655963 G A rs61743560 CNOT3 Nonsynonymous SNV A536T 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 26 118628 chr8 144917879 144917879 C T rs372417243 NRBP2 Nonsynonymous SNV A487T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.545 118629 chr1 41157517 41157517 T C NFYC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.24 118630 chr7 30791847 30791847 C T rs2240822 INMT Synonymous SNV F27F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 118631 chr6 83847326 83847326 C G rs41271565 DOP1A Nonsynonymous SNV P1180A 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.001 118632 chr8 142266818 142266818 G A rs150546085 LOC105375787 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 0.639 118633 chr6 84270601 84270601 A G rs12208676 SNAP91 Synonymous SNV P529P 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Benign 0.051 118634 chr19 55053836 55053836 T C KIR3DX1 0 0 0 3 0 0 0.008 0 0 0 0 0 0.549 118635 chr7 34192729 34192729 G C rs150768568 BMPER Synonymous SNV V634V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.827 118636 chr6 80717709 80717712 GTTT - TTK S108Mfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 118637 chr6 80717712 80717712 - CCCC TTK Frameshift insertion A110Pfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 118638 chr6 90322046 90322046 G A ANKRD6 Nonsynonymous SNV R125H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 33 118639 chr1 44457963 44457965 CTC - CCDC24 S69_L70delinsF 0.001 0 0.003 0 1 0 0 1 0 0 0 0 118640 chr1 45276246 45276246 G A rs186821493 BTBD19 Synonymous SNV A107A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.91 118641 chr8 145234450 145234450 C G rs372646301 MROH1 Synonymous SNV T87T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.42 118642 chrX 40456788 40456788 A G ATP6AP2 Nonsynonymous SNV M136V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 118643 chr1 47138831 47138831 C T rs369089422 TEX38 Synonymous SNV P108P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.36 118644 chr8 144772285 144772285 A G rs61997231 ZNF707 Nonsynonymous SNV M3V 0.003 0.013 0 4 3 5 0.01 0 0 0 0 0 0.001 118645 chr1 48865260 48865260 G C rs374246824 SPATA6 Nonsynonymous SNV N167K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.354 118646 chr8 145736832 145736832 G A rs201384843 RECQL4 Synonymous SNV L1203L 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 1.941 118647 chr1 52991251 52991251 G A rs752753267 TUT4 Synonymous SNV D234D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.77 118648 chr1 54371914 54371914 G A rs202120584 DIO1 Nonsynonymous SNV A162T 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 34 118649 chrX 64951029 64951029 T C rs45457796 MSN Synonymous SNV H176H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.242 118650 chr7 47917126 47917126 T C rs139854035 PKD1L1 Synonymous SNV A1208A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.071 118651 chr8 144997256 144997256 C T rs200618217 PLEC Nonsynonymous SNV A2267T 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 118652 chr8 17850999 17850999 C T rs749428843 PCM1 Synonymous SNV P1503P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 16.09 118653 chr8 17851023 17851023 A C PCM1 Nonsynonymous SNV Q1511H 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 23.4 118654 chr21 30961346 30961346 A G rs765724429 GRIK1 Nonsynonymous SNV M304T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.5 118655 chr8 1950114 1950114 C T rs201851598 KBTBD11 Synonymous SNV R252R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.09 118656 chr8 195524 195524 A T rs117000175 ZNF596 Nonsynonymous SNV H226L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.935 118657 chr21 33697665 33697665 T C rs190615535 URB1 Synonymous SNV S1665S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.495 118658 chr7 5413923 5413923 C T rs34729538 TNRC18 Nonsynonymous SNV A998T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 21 118659 chr8 21955034 21955034 C A FAM160B2 Nonsynonymous SNV P102Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.6 118660 chr7 6075557 6075557 C G ANKRD61 Nonsynonymous SNV T266S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 118661 chrX 106093498 106093498 T C TBC1D8B Nonsynonymous SNV L694P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 118662 chr7 6189711 6189711 T A rs113589932 USP42 Synonymous SNV I628I 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 8.946 118663 chr21 35514780 35514780 A G rs778639323 MRPS6 Nonsynonymous SNV I86M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 16.47 118664 chr8 22880382 22880382 T C rs369451862 TNFRSF10B Synonymous SNV A375A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.8 118665 chr1 68152210 68152210 T C rs761901585 GADD45A Synonymous SNV A74A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 118666 chrX 114426587 114426587 C T rs782703887 RBMXL3 Synonymous SNV Y861Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.942 118667 chr8 25222153 25222153 G A rs148483229 DOCK5 Nonsynonymous SNV R1019H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 118668 chr7 6590743 6590743 G A rs148001919 GRID2IP Nonsynonymous SNV R109C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 118669 chr8 25237889 25237889 C T rs142846654 DOCK5 Synonymous SNV Y1335Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 118670 chrX 114541128 114541128 G A LUZP4 Nonsynonymous SNV S152N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 118671 chr19 58805783 58805783 C T rs3745137 ZNF8 Synonymous SNV Y203Y 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 5.886 118672 chr8 24300062 24300062 T C ADAM7 Synonymous SNV T43T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.076 118673 chr7 6624660 6624660 G C rs79501138 ZDHHC4 Nonsynonymous SNV W170C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 118674 chr7 6631414 6631414 G T rs10260097 C7orf26 Synonymous SNV R91R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 118675 chr7 69583176 69583176 C T rs150765660 AUTS2 Nonsynonymous SNV S194F 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 Uncertain significance 28 118676 chr8 25209257 25209257 C T rs757392639 DOCK5 Nonsynonymous SNV A922V 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 3.632 118677 chr1 76210477 76210477 C T rs11161511 DLSTP1 0 0 0.075 0 0 0 0 22 0 0 4 0 1.698 118678 chr8 27373854 27373854 G A rs2234913 EPHX2 Synonymous SNV Q217Q 0.01 0.01 0.01 1 12 4 0.003 3 0 0 0 0 11 118679 chr8 27375565 27375565 A G rs2234914 EPHX2 Synonymous SNV E241E 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 8.9 118680 chr1 7797625 7797625 A C rs41278954 CAMTA1 Nonsynonymous SNV N261T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 17.34 118681 chr1 8420270 8420270 G A rs148981427 RERE Synonymous SNV D545D 0.005 0.003 0.01 4 6 1 0.01 3 0 0 0 0 Benign 0.033 118682 chr20 1143791 1143791 C T rs147039294 PSMF1 Nonsynonymous SNV P102L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.5 118683 chr7 75896593 75896593 G A rs142979250 SRRM3 Nonsynonymous SNV R283Q 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 25.2 118684 chr7 76023217 76023217 T G rs151053756 SSC4D Synonymous SNV T317T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 2.487 118685 chr8 29989832 29989832 C T rs147712548 MBOAT4 Nonsynonymous SNV R312Q 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 4.457 118686 chrX 135954484 135954486 ATA - rs767553768 RBMX Y187del 0.008 0.018 0.003 4 9 7 0.01 1 0 3 0 1 118687 chr8 22460942 22460942 C A LOC107986876 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.606 118688 chr1 865665 865665 G A rs145442390 SAMD11 Nonsynonymous SNV R68Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.4 118689 chr7 103061910 103061910 C T rs772472784 SLC26A5 Nonsynonymous SNV V18M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 118690 chr8 31497515 31497515 C G rs761240700 NRG1 Synonymous SNV R5R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 118691 chr7 105254364 105254364 G A rs750510253 ATXN7L1 Nonsynonymous SNV P682L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 118692 chr7 106301268 106301268 A G rs758121112 CCDC71L Synonymous SNV F25F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 118693 chr8 37704545 37704545 G A rs775390315 BRF2 Synonymous SNV C121C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.83 118694 chrX 148037296 148037296 C T rs200099351 AFF2 Nonsynonymous SNV T215M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 118695 chr7 82785100 82785100 G A PCLO Nonsynonymous SNV A286V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 118696 chr8 38125517 38125517 G A rs200448877 PLPP5 Synonymous SNV L116L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.817 118697 chr7 107408247 107408247 C G rs142908255 SLC26A3 Nonsynonymous SNV K723N 0.01 0.005 0.02 1 12 2 0.003 6 0 0 0 0 Likely benign 27.9 118698 chr7 102098138 102098138 G A ALKBH4 Synonymous SNV C204C 0.003 0 0 0 3 0 0 0 0 0 0 0 3.152 118699 chr7 86479694 86479694 G A rs76035289 GRM3 Nonsynonymous SNV D445N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 10.66 118700 chr8 38684765 38684765 C T rs200725219 TACC1 Nonsynonymous SNV S101F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 118701 chr7 104782750 104782750 T A rs764040097 SRPK2 Nonsynonymous SNV E405D 0.003 0 0 0 4 0 0 0 0 0 0 0 8.571 118702 chr7 106509571 106509571 A G rs61749915 PIK3CG Nonsynonymous SNV N522S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.567 118703 chr7 91631729 91631729 A G rs537099180 AKAP9 Nonsynonymous SNV K833R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.506 118704 chr8 48878813 48878813 A G rs144012681 MCM4 Nonsynonymous SNV Q300R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.79 118705 chr1 900427 900427 G A rs115741058 KLHL17 Synonymous SNV E595E 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 9.396 118706 chr8 48614376 48614376 T C rs754843249 SPIDR Nonsynonymous SNV Y128H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 118707 chr8 25276976 25276976 C G rs146523104 GNRH1 Nonsynonymous SNV E84Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.8 118708 chrX 153036095 153036095 G A rs139853034 PLXNB3 Nonsynonymous SNV E670K 0.004 0 0 5 5 0 0.013 0 1 0 0 2 Likely benign 17.81 118709 chr1 901922 901922 G A rs62639980 PLEKHN1 Nonsynonymous SNV S4N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 19.57 118710 chr1 901923 901923 C A rs149741186 PLEKHN1 Nonsynonymous SNV S4R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 26.7 118711 chr8 25290092 25290092 C T rs28411311 KCTD9 Synonymous SNV V327V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 118712 chr8 56698904 56698904 C T rs149461987 TGS1 Synonymous SNV D56D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.003 118713 chr7 108212174 108212174 G A rs61749953 DNAJB9 Nonsynonymous SNV A2T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 23.1 118714 chr8 57026379 57026379 T C rs144702322 MOS Nonsynonymous SNV I55V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.4 118715 chr8 61769418 61769418 A C rs192129249 CHD7 Nonsynonymous SNV M2527L 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 Benign/Likely benign 7.499 118716 chr8 623445 623445 C T rs369901140 ERICH1 Nonsynonymous SNV E303K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.5 118717 chr8 6588258 6588258 G T rs145228795 AGPAT5 Nonsynonymous SNV A106S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.4 118718 chr7 99662533 99662533 A T rs368261757 ZNF3 Nonsynonymous SNV W56R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.585 118719 chr8 67089257 67089257 C T rs144205489 CRH Synonymous SNV R152R 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign/Likely benign 14.75 118720 chr8 67547170 67547170 T C VCPIP1 Nonsynonymous SNV S1079G 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 11.47 118721 chr7 99722428 99722436 GAGGAGGAA - rs753779348 CNPY4 E227_E229del 0.003 0 0 0 4 0 0 0 0 0 0 0 118722 chr8 6371309 6371309 C T rs368524229 ANGPT2 Synonymous SNV L311L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.29 118723 chr7 99758400 99758400 G C rs368643591 GAL3ST4 Nonsynonymous SNV H204Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 118724 chr7 127239483 127239483 T C rs188307221 FSCN3 Nonsynonymous SNV V390A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 118725 chr8 70514019 70514019 G A rs61747207 SULF1 Nonsynonymous SNV R339H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 118726 chr1 94496040 94496040 G A rs368147821 ABCA4 Synonymous SNV D1432D 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 12.34 118727 chr20 6032872 6032872 C T LRRN4 Nonsynonymous SNV E192K 0 0 0 3 0 0 0.008 0 0 0 0 0 14.28 118728 chr8 70744337 70744337 C T SLCO5A1 Nonsynonymous SNV R191Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 118729 chr1 95363439 95363439 G A rs374373076 CNN3 Synonymous SNV N237N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.154 118730 chr20 8717822 8717822 C G rs61755434 PLCB1 Nonsynonymous SNV P731A 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.64 118731 chr20 9495534 9495534 A G rs2232259 LAMP5 Nonsynonymous SNV D12G 0 0 0 3 0 0 0.008 0 0 0 0 0 10.4 118732 chr8 77764426 77764426 C G ZFHX4 Nonsynonymous SNV P1757A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 118733 chr22 19960517 19960517 C T ARVCF Synonymous SNV Q827Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.11 118734 chr22 19961217 19961217 C T rs202208069 ARVCF Nonsynonymous SNV A730T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 29.9 118735 chr8 80992664 80992664 A G rs117461662 TPD52 Nonsynonymous SNV Y9H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.004 118736 chr22 20938709 20938709 G A rs901725940 MED15 Synonymous SNV A489A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.08 118737 chr7 133979789 133979789 G A rs559524155 SLC35B4 Synonymous SNV C264C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.581 118738 chr22 22277784 22277784 G A rs144940091 PPM1F Nonsynonymous SNV T349M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.4 118739 chr8 87460473 87460473 A G rs1011927449 WWP1 Nonsynonymous SNV I699V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.02 118740 chr8 55540382 55540382 G C rs778298401 RP1 Nonsynonymous SNV A1314P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.1 118741 chr8 8748058 8748058 C T rs146502253 MFHAS1 Synonymous SNV K837K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.52 118742 chr8 56698905 56698905 G A rs61740025 TGS1 Nonsynonymous SNV D57N 0.01 0.029 0.003 2 12 11 0.005 1 1 0 0 0 Benign 11.95 118743 chr8 116631660 116631660 T C rs61745721 TRPS1 Nonsynonymous SNV N213S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 18.66 118744 chr8 91033242 91033242 G A rs372630127 DECR1 Nonsynonymous SNV V175M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 118745 chr10 104210411 104210411 C T rs907252045 C10orf95 Nonsynonymous SNV R147H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 118746 chr8 95504122 95504122 G A rs757777053 VIRMA Synonymous SNV Y1608Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.215 118747 chr7 139796545 139796545 C T rs561622066 KDM7A Synonymous SNV T728T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 118748 chr8 124164125 124164125 A G rs116864883 TBC1D31 Synonymous SNV R848R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.585 118749 chr8 98788336 98788336 - ATCATCAATGCTGTGGTACTGTTGATTTTATTGAGTGCCCTGGCTGATCCGGATCAGTATAACTTTTCAAGTTCT LAPTM4B S58_E59insIINAVVLLILLSALADPDQYNFSSS 0.001 0 0.003 0 1 0 0 1 0 0 0 0 118750 chr8 98828408 98828408 - CCTCCTAATTTTCCCTACAGAGATGATGTCAT LAPTM4B Frameshift insertion M147Ifs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 118751 chr7 141490643 141490643 C A rs200486504 TAS2R5 Nonsynonymous SNV P161H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.01 118752 chr8 72981375 72981375 G T rs61753713 TRPA1 Nonsynonymous SNV N109K 0.016 0.023 0.003 4 19 9 0.01 1 0 0 0 0 Likely benign 20.9 118753 chr9 100431908 100431908 C G rs201932796 NCBP1 Nonsynonymous SNV R357G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 118754 chr7 143028708 143028708 C T rs201714423 CLCN1 Stop gain R377X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Pathogenic 42 118755 chr8 133673857 133673857 A C rs200906172 LRRC6 Nonsynonymous SNV I9M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 118756 chr9 104133278 104133278 C T rs144591246 BAAT Nonsynonymous SNV V137I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.4 118757 chr9 110068670 110068670 T G rs376878974 RAD23B Nonsynonymous SNV V59G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.867 118758 chr20 33574773 33574773 A G rs200924846 MYH7B Nonsynonymous SNV E372G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Likely benign 24.7 118759 chr9 110091925 110091925 T C rs149083108 RAD23B Synonymous SNV F385F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.59 118760 chr9 107554263 107554263 C T rs142688906 ABCA1 Nonsynonymous SNV R1925Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 24.8 118761 chr9 110249780 110249780 G A rs142583665 KLF4 Nonsynonymous SNV R299W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 118762 chr20 35219829 35219829 C T TGIF2 Stop gain Q237X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 118763 chr9 113169816 113169816 T A SVEP1 Synonymous SNV G2688G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.949 118764 chr7 149462554 149462554 G A ZNF467 Nonsynonymous SNV T346I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 118765 chr9 100124103 100124103 G T CCDC180 Nonsynonymous SNV E1237D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 118766 chr7 150033974 150033974 G A rs138665596 LRRC61 Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.778 118767 chr9 100616475 100616475 C T rs150571747 FOXE1 Synonymous SNV N93N 0.003 0.01 0 3 3 4 0.008 0 0 0 0 0 14.35 118768 chr20 33665957 33665957 C T rs151054310 TRPC4AP Synonymous SNV T63T 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 14.03 118769 chr20 33834785 33834785 C T rs199855518 MMP24 Nonsynonymous SNV T130M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 118770 chr7 150217683 150217683 G - rs772576543 GIMAP7 D208Tfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 118771 chr9 100919823 100919823 G C CORO2A Nonsynonymous SNV F40L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 118772 chr20 34190970 34190970 C T rs41293082 FER1L4 0 0 0.051 0 0 0 0 15 0 0 0 0 7.338 118773 chr20 46295228 46295228 G A rs151082366 SULF2 Synonymous SNV Y527Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.652 118774 chr20 34560629 34560629 C T rs150690141 CNBD2 Nonsynonymous SNV R44W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 35 118775 chr7 150778729 150778729 C T TMUB1 Synonymous SNV Q216Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 118776 chr20 35649061 35649061 C T rs757223051 RBL1 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 118777 chr22 38111932 38111932 A G TRIOBP Nonsynonymous SNV K207E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.51 118778 chr9 107332335 107332335 A G rs138955944 OR13C8 Nonsynonymous SNV Y296C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24.7 118779 chr7 155473580 155473580 A G rs745557199 RBM33 Nonsynonymous SNV N182S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 118780 chr9 107332377 107332377 T A rs76017116 OR13C8 Nonsynonymous SNV I310K 0.01 0.01 0.014 2 12 4 0.005 4 0 0 0 0 22.3 118781 chr9 117168992 117168992 G A rs373652923 WHRN Nonsynonymous SNV R276C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 17.37 118782 chr9 117266748 117266748 C T rs765132708 WHRN Nonsynonymous SNV E112K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 118783 chr9 117240945 117240945 C T rs727505127 WHRN Nonsynonymous SNV R242H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 25.4 118784 chr9 117822218 117822218 T C TNC Nonsynonymous SNV N1366S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.358 118785 chr9 117852877 117852877 T C rs762858023 TNC Nonsynonymous SNV T141A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.001 118786 chr7 18705948 18705948 G A HDAC9 Nonsynonymous SNV G447D 0.003 0 0 0 3 0 0 0 0 0 0 0 12.76 118787 chr8 144991010 144991010 C T rs368027812 PLEC Nonsynonymous SNV G4313S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 118788 chr20 43374694 43374694 T C rs144556326 KCNK15 Nonsynonymous SNV L48P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 19.23 118789 chr9 119382591 119382591 C T rs111633658 ASTN2 Synonymous SNV P120P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 13.84 118790 chr20 43545429 43545429 C T rs199851418 PABPC1L Synonymous SNV F140F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 118791 chr20 43561051 43561051 A G rs41282038 PABPC1L Synonymous SNV T436T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 9.354 118792 chr20 43564137 43564137 G A rs73296580 PABPC1L Nonsynonymous SNV R517Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.48 118793 chr20 43726432 43726432 G A rs7261171 KCNS1 Synonymous SNV G327G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.087 118794 chr20 43727833 43727833 C G rs73910116 KCNS1 Synonymous SNV R15R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.298 118795 chr20 44047493 44047493 G T rs141420243 PIGT Nonsynonymous SNV V123L 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign/Likely benign 24.8 118796 chr9 115930816 115930816 T C rs184762226 FKBP15 Nonsynonymous SNV D1169G 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 27 118797 chr9 125551965 125551965 G A rs146508500 OR5C1 Nonsynonymous SNV V252M 0.014 0.003 0.007 8 16 1 0.021 2 0 0 0 0 26.1 118798 chr9 115950691 115950691 C T rs79324511 FKBP15 Synonymous SNV A418A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 19.03 118799 chr22 43582967 43582967 G C TTLL12 Nonsynonymous SNV P37A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.437 118800 chr20 60882747 60882747 C A rs79836754 ADRM1 Nonsynonymous SNV T201N 0.022 0.021 0.024 9 26 8 0.023 7 0 0 0 0 12.22 118801 chr7 2577970 2577970 G A rs139111440 BRAT1 Synonymous SNV Y558Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 118802 chr20 60883769 60883769 - GACACGAAG rs202079747 ADRM1 D357_K358insTKD 0.023 0.021 0.024 9 27 8 0.023 7 0 0 0 0 118803 chr20 60884827 60884827 G A rs138234217 LAMA5 Synonymous SNV P3631P 0.022 0.021 0.024 9 26 8 0.023 7 0 0 0 0 6.918 118804 chr20 60885362 60885362 G A rs41307203 LAMA5 Nonsynonymous SNV P3536S 0.022 0.021 0.024 9 26 8 0.023 7 0 0 0 0 0.042 118805 chr20 60886078 60886078 G A rs139348745 LAMA5 Synonymous SNV P3387P 0.021 0.021 0.024 8 25 8 0.021 7 0 0 0 0 10.07 118806 chr20 60887020 60887020 G A rs114698761 LAMA5 Synonymous SNV A3197A 0.02 0.021 0.024 9 24 8 0.023 7 0 0 0 0 10.87 118807 chr20 60887239 60887239 C T rs140181393 LAMA5 Nonsynonymous SNV R3165Q 0.02 0.021 0.024 8 24 8 0.021 7 0 0 0 0 22.4 118808 chr9 12695619 12695619 A G rs530010397 TYRP1 Nonsynonymous SNV R164G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 118809 chr8 17094739 17094739 T C rs548128564 CNOT7 Nonsynonymous SNV K152R 0.003 0 0 0 4 0 0 0 0 0 0 0 15.21 118810 chr20 48124480 48124480 C T rs142254215 PTGIS Nonsynonymous SNV V494I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.005 118811 chr9 130289578 130289578 G A rs777558102 NIBAN2 Synonymous SNV V57V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.91 118812 chr9 128064926 128064926 G A rs55779102 GAPVD1 Nonsynonymous SNV V284M 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 27.4 118813 chr22 45316368 45316368 A G rs114043304 PHF21B Synonymous SNV A29A 0.003 0 0 0 4 0 0 0 0 0 0 0 12.63 118814 chr7 298630 298630 C T rs139144760 FAM20C Synonymous SNV H488H 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 10.2 118815 chr8 18658821 18658821 T C rs142157563 PSD3 Nonsynonymous SNV N127S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.58 118816 chr20 56227170 56227170 G A rs148829733 PMEPA1 Nonsynonymous SNV P240L 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 8.285 118817 chr9 131337614 131337614 A G rs760419507 SPTAN1 Nonsynonymous SNV K214R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 118818 chr7 32209441 32209441 C A rs190821640 PDE1C Nonsynonymous SNV L88F 0.004 0.01 0 6 5 4 0.015 0 0 0 0 0 23.3 118819 chr20 57036119 57036119 G C APCDD1L Stop gain Y411X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 118820 chr8 2040288 2040288 G A rs62478384 MYOM2 Nonsynonymous SNV C648Y 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 14.62 118821 chr8 2041860 2041860 T C rs62478385 MYOM2 Synonymous SNV A689A 0.008 0 0.007 3 9 0 0.008 2 0 0 0 0 0.083 118822 chr9 131475637 131475637 G A rs149211383 PKN3 Nonsynonymous SNV D355N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 118823 chr8 21767148 21767148 C T rs145405180 DOK2 Nonsynonymous SNV A151T 0.004 0 0 0 5 0 0 0 0 0 0 0 14.37 118824 chr20 57598562 57598562 C A rs35989782 TUBB1 Synonymous SNV R62R 0.002 0 0.017 0 2 0 0 5 0 0 0 0 16.31 118825 chr9 131760464 131760464 G A rs186381323 NUP188 Nonsynonymous SNV R1129H 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 22.7 118826 chr20 58442796 58442796 C A rs142013890 SYCP2 Nonsynonymous SNV R1365S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 118827 chr9 131670670 131670670 C T rs150061366 LRRC8A Synonymous SNV N409N 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 10.5 118828 chr9 131696074 131696074 A G rs141401618 PHYHD1 Nonsynonymous SNV Y69C 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 28.1 118829 chr9 131862837 131862837 C T rs777121685 CRAT Nonsynonymous SNV G313S 0.003 0 0 0 3 0 0 0 0 0 0 0 34 118830 chr9 131857687 131857687 C G rs17459086 CRAT Nonsynonymous SNV A624P 0.012 0.01 0.01 2 14 4 0.005 3 1 0 0 0 26.9 118831 chr9 132637027 132637027 C T rs138111509 USP20 Nonsynonymous SNV T638M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 33 118832 chr8 22458749 22458749 C T rs372646147 C8orf58 Nonsynonymous SNV S132L 0.005 0 0.003 0 6 0 0 1 0 0 0 0 23.4 118833 chr9 132596990 132596990 C A C9orf78 Nonsynonymous SNV V47L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 118834 chr9 132757202 132757202 C A rs374613103 FNBP1 Nonsynonymous SNV W20C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 118835 chr9 133061568 133061568 G A rs555194710 HMCN2 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.9 118836 chr7 39990897 39990897 G A rs958364262 CDK13 Synonymous SNV R219R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.884 118837 chr8 23148890 23148890 C T rs370764762 R3HCC1 Nonsynonymous SNV T290M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 29.6 118838 chr8 23428910 23428910 A G rs200162172 SLC25A37 Nonsynonymous SNV T36A 0.003 0 0 0 4 0 0 0 0 0 0 0 3.344 118839 chr10 33200459 33200459 A C ITGB1 Synonymous SNV G616G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 118840 chr10 34688273 34688273 C G rs62625032 PARD3 Nonsynonymous SNV S248T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 118841 chr20 62221982 62221982 G A rs34841296 GMEB2 Synonymous SNV S351S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.948 118842 chr9 136535792 136535792 C T rs115287169 SARDH Synonymous SNV S803S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.75 118843 chr8 33246982 33246982 G A rs373622759 FUT10 Synonymous SNV Y237Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 118844 chr9 138903657 138903657 A G rs376720345 NACC2 Nonsynonymous SNV V490A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.183 118845 chr21 36252917 36252917 C T rs752926959 RUNX1 Nonsynonymous SNV A122T 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 31 118846 chr8 37635618 37635618 A T rs758438904 PLPBP Nonsynonymous SNV H285L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 118847 chr9 139370060 139370060 A C rs199511844 SEC16A Nonsynonymous SNV C670G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.01 118848 chr8 38034460 38034460 G A rs61731142 BAG4 Nonsynonymous SNV G25S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 118849 chr21 37618002 37618002 T A rs764664051 DOP1B Nonsynonymous SNV Y1242N 0 0 0 3 0 0 0.008 0 0 0 0 0 25 118850 chr9 139390804 139390804 C T rs537210445 NOTCH1 Nonsynonymous SNV A2463T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.29 118851 chr9 139276462 139276462 C T rs151190383 SNAPC4 Nonsynonymous SNV V711M 0.002 0 0 0 2 0 0 0 0 0 0 0 2.041 118852 chr8 39535052 39535052 G A rs151131718 ADAM18 Nonsynonymous SNV R519Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.908 118853 chr8 41519379 41519379 C T ANK1 Synonymous SNV G128G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 118854 chr9 139752874 139752874 C G rs141024766 MAMDC4 Synonymous SNV G899G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 118855 chr9 139840122 139840122 G A rs140338586 C8G Nonsynonymous SNV A59T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.196 118856 chr9 139848309 139848309 C T rs201007445 LCN12 Nonsynonymous SNV A114V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.447 118857 chr9 139889216 139889216 T G rs3188722 CLIC3 Nonsynonymous SNV M210L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.674 118858 chr9 139890129 139890129 A G rs13795 CLIC3 Synonymous SNV P38P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.047 118859 chr9 139904689 139904689 G A rs778465935 ABCA2 Synonymous SNV G2103G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.96 118860 chrX 70627840 70627840 C T rs766337255 TAF1 Nonsynonymous SNV T1408I 0.002 0 0 2 2 0 0.005 0 0 0 0 1 20.9 118861 chrX 70824042 70824042 C T rs968568453 GCNA Synonymous SNV P305P 0.002 0 0 2 2 0 0.005 0 0 0 0 1 13.41 118862 chr9 140137288 140137288 T G TUBB4B Synonymous SNV A206A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.01 118863 chr9 140243566 140243566 C T rs199714315 EXD3 Nonsynonymous SNV R609K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.059 118864 chr9 140130833 140130833 G A rs376700316 SLC34A3 Nonsynonymous SNV E589K 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Uncertain significance 24.8 118865 chr9 140139877 140139877 G A rs148343605 FAM166A Nonsynonymous SNV P135L 0.006 0.008 0 0 7 3 0 0 0 0 0 0 13.14 118866 chr9 140372588 140372588 T C rs73567240 PNPLA7 Nonsynonymous SNV H902R 0.009 0.003 0.01 0 11 1 0 3 0 0 0 0 0.219 118867 chr9 16419367 16419367 T C rs35005898 BNC2 Nonsynonymous SNV I879V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 0.016 118868 chr21 37785435 37785435 C G CHAF1B Nonsynonymous SNV Q439E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 118869 chr9 140391690 140391690 A G rs61747296 PNPLA7 Synonymous SNV D629D 0.008 0 0.007 0 9 0 0 2 0 0 0 0 0.051 118870 chr21 45820225 45820225 G A rs148173972 TRPM2 Synonymous SNV P764P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.897 118871 chr9 17135368 17135368 C T rs199893965 CNTLN Nonsynonymous SNV T102M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 118872 chr21 46057961 46057961 C T rs138286608 KRTAP10-10 Synonymous SNV C209C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.677 118873 chr9 139412638 139412638 C T rs746848165 NOTCH1 Synonymous SNV S402S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.88 118874 chr9 17462914 17462914 A G CNTLN Nonsynonymous SNV N1102D 0.002 0 0 0 2 0 0 0 0 0 0 0 29 118875 chr9 19336747 19336747 C T rs117605726 DENND4C Nonsynonymous SNV S933F 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 16.85 118876 chr21 46595754 46595754 T A ADARB1 Synonymous SNV G95G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.014 118877 chr21 42811750 42811750 A G rs748027201 MX1 Nonsynonymous SNV N189S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 118878 chr9 26887344 26887344 T G rs766394265 CAAP1 Nonsynonymous SNV K12N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 118879 chr7 73933766 73933766 G A rs782730285 GTF2IRD1 Synonymous SNV S243S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 14.25 118880 chr9 27524438 27524438 T C rs145543213 IFNK Nonsynonymous SNV V35A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.013 118881 chrX 123518206 123518206 T A rs144335593 TENM1 Nonsynonymous SNV H2185L 0.012 0.005 0.01 0 14 2 0 3 3 0 1 0 Likely benign 17.35 118882 chr9 2622155 2622155 - CGGCGG VLDLR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 118883 chr9 139918659 139918659 G A rs754830897 ABCA2 Synonymous SNV P32P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.406 118884 chr8 87645092 87645092 C T rs147876778 CNGB3 Nonsynonymous SNV R403Q 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 118885 chr7 87913177 87913177 G A rs557496437 STEAP4 Synonymous SNV T136T 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 12.06 118886 chr8 90801671 90801671 T G RIPK2 Nonsynonymous SNV S416A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 118887 chr9 34459048 34459048 G T rs547949645 DNAI1 Nonsynonymous SNV K15N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 118888 chr8 95508083 95508083 A G rs763737840 VIRMA Synonymous SNV L1474L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.462 118889 chr10 73511484 73511484 G A rs143240262 VSIR Nonsynonymous SNV S280L 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 28.9 118890 chr21 44839075 44839075 G A rs34164089 SIK1, SIK1B Nonsynonymous SNV R430W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.6 118891 chr21 44985370 44985370 A G rs112493576 H2BS1 Nonsynonymous SNV Y84C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.111 118892 chr9 35906601 35906601 - CCACCACACCCCTCACCACCTCCA HRCT1 H107_R108insHTPHHLHH 0.001 0 0 0 1 0 0 0 0 0 0 0 118893 chr21 44985432 44985432 G A rs113294006 H2BS1 Nonsynonymous SNV G105R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.317 118894 chr21 45050213 45050213 T C rs11908893 HSF2BP Synonymous SNV G188G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.679 118895 chr7 91713963 91713963 A G rs143283097 AKAP9 Nonsynonymous SNV I2886V 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Likely benign 0.001 118896 chr21 45107875 45107875 G A rs61733779 RRP1B Synonymous SNV P540P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.845 118897 chr21 45161432 45161432 A G rs73375216 PDXK Star tloss M1? 0.003 0 0.01 0 3 0 0 3 1 0 1 0 1.034 118898 chr9 14776024 14776024 C G rs759712562 FREM1 Nonsynonymous SNV E76D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.157 118899 chr21 45712272 45712272 C T rs201010030 AIRE Synonymous SNV P361P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.77 118900 chr21 45712983 45712983 T C rs61737072 AIRE Synonymous SNV P401P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.003 118901 chrX 140993885 140993989 CTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTT - MAGEC1 S241_S275del 0.014 0.021 0.01 15 16 8 0.038 3 1 1 1 5 118902 chr21 45798885 45798885 C T rs45516594 TRPM2 Synonymous SNV I340I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.04 118903 chr9 3898896 3898896 G T rs61201518 GLIS3-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.731 118904 chr21 45856963 45856963 T C rs11910471 TRPM2 Synonymous SNV D41D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.045 118905 chr9 38424364 38424387 GCAGCAGCGGCAGCAGCAGCAGAA - rs982607552 IGFBPL1 L12_L19del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 118906 chr9 439376 439376 G A rs34098809 DOCK8 Synonymous SNV E1637E 0.014 0.008 0.007 1 16 3 0.003 2 0 0 0 0 Benign 11.61 118907 chr9 6007663 6007663 G A rs377055415 KIAA2026 Nonsynonymous SNV A42V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.79 118908 chr21 46067036 46067036 T C rs73909208 KRTAP10-11 Nonsynonymous SNV C221R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 118909 chr21 46226897 46226897 G A rs112870818 SUMO3 Nonsynonymous SNV P132L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.037 118910 chr9 72501772 72501772 C G rs752054387 C9orf135 Stop gain Y57X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 118911 chrX 150907061 150907061 A G rs200529056 CNGA2 Nonsynonymous SNV S36G 0.006 0 0.007 0 7 0 0 2 2 0 1 0 6.874 118912 chr21 46912609 46912609 G A rs115470104 COL18A1 Synonymous SNV P912P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.097 118913 chr21 46930061 46930061 G A rs372559352 COL18A1 Synonymous SNV A1370A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.13 118914 chr9 2643840 2643840 A G rs768279118 VLDLR Nonsynonymous SNV N275S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.63 118915 chr9 73028142 73028142 C A rs147205860 KLF9 Nonsynonymous SNV E46D 0.009 0.008 0.003 0 10 3 0 1 0 0 0 0 12.35 118916 chr9 111625809 111625809 G A rs151067634 ACTL7A Nonsynonymous SNV G403S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 118917 chr21 47552392 47552392 G C COL6A2 Nonsynonymous SNV V996L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.773 118918 chr21 47671510 47671510 G A rs539917903 MCM3AP Nonsynonymous SNV T1408M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 118919 chr21 47775461 47775461 A G rs190179445 PCNT Nonsynonymous SNV H501R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.871 118920 chr9 77643007 77643007 T A rs200378073 CARNMT1 Nonsynonymous SNV T51S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.937 118921 chr9 78710994 78710994 C T rs372936707 PCSK5 Synonymous SNV S361S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.4 118922 chr9 77749278 77749278 A G rs762235453 OSTF1 Synonymous SNV L125L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.5 118923 chr10 100144822 100144822 G A rs143481654 PYROXD2 Synonymous SNV N519N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.98 118924 chr8 101146491 101146491 C T FBXO43 Synonymous SNV Q592Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 11.36 118925 chr10 102241724 102241724 G A rs76078607 WNT8B Synonymous SNV A141A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 17.84 118926 chr9 86894956 86894956 C T rs1037170900 SLC28A3 Nonsynonymous SNV A588T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 118927 chr22 21328572 21328572 G A rs147613113 AIFM3 Nonsynonymous SNV R166Q 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 118928 chr10 104173587 104173587 C T PSD Nonsynonymous SNV E498K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 118929 chr9 4117901 4117901 A C GLIS3 Nonsynonymous SNV I371S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 118930 chr9 90252859 90252859 G A rs200255856 DAPK1 Nonsynonymous SNV V96I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 118931 chr22 22313603 22313603 G T TOP3B Synonymous SNV G602G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 118932 chr9 95147962 95147962 C G rs142523561 OGN Synonymous SNV L279L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.934 118933 chr9 96715061 96715061 A C rs201922522 BARX1 Nonsynonymous SNV L184V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 118934 chrX 100658921 100658921 C T rs782722577 GLA Nonsynonymous SNV D83N 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Uncertain significance 24.3 118935 chr8 110567014 110567014 C T rs759484343 EBAG9 Synonymous SNV I73I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 18.37 118936 chr8 11301604 11301604 G T rs761480496 FAM167A Nonsynonymous SNV S106Y 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 19.69 118937 chr9 98209397 98209397 C T rs187104739 PTCH1 Nonsynonymous SNV V1329M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 118938 chr22 31658665 31658665 C T rs777504070 LIMK2 Nonsynonymous SNV R227W 0 0 0 2 0 0 0.005 0 0 0 0 0 28.3 118939 chr9 99408256 99408256 G A rs150120218 PRXL2C Synonymous SNV L158L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 118940 chrX 10035461 10035461 G A rs61748714 WWC3 Nonsynonymous SNV E51K 0.003 0.008 0 0 3 3 0 0 1 1 0 0 Benign 28.2 118941 chr8 124998320 124998320 A G rs775801755 FER1L6 Nonsynonymous SNV K475E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.91 118942 chr9 78973431 78973431 G A rs72745135 PCSK5 Nonsynonymous SNV E1726K 0.018 0.005 0.007 7 21 2 0.018 2 0 0 0 0 28.2 118943 chrX 103495115 103495115 C G ESX1 Nonsynonymous SNV V339L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.001 118944 chrX 103495117 103495117 C G rs782662363 ESX1 Nonsynonymous SNV R338P 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.019 118945 chrX 106016268 106016268 A T rs56121637 RNF128 Nonsynonymous SNV N178Y 0.005 0 0.007 1 6 0 0.003 2 1 0 1 0 Benign 26.2 118946 chrX 118281500 118281500 T C rs776709157 KIAA1210 Nonsynonymous SNV R116G 0.003 0 0 0 3 0 0 0 1 0 0 0 1.813 118947 chr22 28501481 28501481 G A rs202192921 TTC28 Synonymous SNV N1031N 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 1.937 118948 chr8 134030111 134030111 G A rs746508369 TG Synonymous SNV Q2217Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.323 118949 chrX 12903640 12903640 A G TLR7 Nonsynonymous SNV M5V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 118950 chr22 30769996 30769996 C T rs143181893 CCDC157 Nonsynonymous SNV R530W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 118951 chrX 118221318 118221318 A G rs200015496 KIAA1210 Nonsynonymous SNV L1292P 0.001 0 0.007 0 1 0 0 2 0 0 1 0 11.75 118952 chrX 129147630 129147630 G A rs200510623 BCORL1 Synonymous SNV P294P 0.006 0 0 1 7 0 0.003 0 3 0 0 0 Likely benign 0.749 118953 chrX 129203355 129203355 C T rs9282674 ELF4 Synonymous SNV S369S 0.004 0 0 0 5 0 0 0 1 0 0 0 Benign 14.92 118954 chr8 12957763 12957763 T C rs746678425 DLC1 Nonsynonymous SNV S184G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 23.5 118955 chr8 12957849 12957849 C G rs774546531 DLC1 Nonsynonymous SNV S155T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24.5 118956 chr10 121212263 121212263 C T rs149159651 GRK5 Synonymous SNV D495D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 15.61 118957 chrX 123637468 123637468 A G rs1019452537 TENM1 Synonymous SNV D1129D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.902 118958 chr9 130286047 130286047 G A rs559492611 NIBAN2 Nonsynonymous SNV A154V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 118959 chrX 134125263 134125263 C T rs775498663 SMIM10 Synonymous SNV L46L 0.005 0.008 0 4 6 3 0.01 0 1 0 0 1 11.19 118960 chrX 134686023 134686023 C G rs782541619 INTS6L Synonymous SNV P337P 0.004 0.005 0 3 5 2 0.008 0 1 0 0 1 9.731 118961 chrX 135067686 135067686 G T rs201523857 SLC9A6 Nonsynonymous SNV A9S 0.013 0.003 0.007 1 15 1 0.003 2 4 0 1 0 Benign/Likely benign 7.61 118962 chr9 99060704 99060704 C T rs2066478 HSD17B3 Synonymous SNV S65S 0.006 0.005 0.01 7 7 2 0.018 3 0 0 0 0 Benign 12.82 118963 chr9 99064296 99064296 C T rs2066480 HSD17B3 Nonsynonymous SNV V31I 0.006 0.005 0.01 7 7 2 0.018 3 0 0 0 0 Benign 0.001 118964 chrX 135960230 135960230 C T rs199717308 RBMX Nonsynonymous SNV A78T 0.012 0.013 0 1 14 5 0.003 0 0 0 0 0 20.9 118965 chrX 135961585 135961585 - T rs749546542 RBMX M1M 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 118966 chr9 130911821 130911821 T C rs139418967 LCN2 Nonsynonymous SNV L6P 0.005 0 0 3 6 0 0.008 0 0 0 0 0 15.77 118967 chr22 31335958 31335958 C T rs201903402 MORC2 Synonymous SNV T325T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 16.43 118968 chr22 31492783 31492783 C T rs116641021 SMTN Synonymous SNV R698R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.86 118969 chr10 123688031 123688031 A C rs527563546 ATE1-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.211 118970 chr10 123997021 123997021 C T rs145179415 TACC2 Synonymous SNV L795L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 13.72 118971 chr22 32666627 32666627 G A rs4821041 SLC5A4-AS1 0 0 0.051 0 0 0 0 15 0 0 1 0 7.82 118972 chr22 32666775 32666775 A G rs4821042 SLC5A4-AS1 0 0 0.02 0 0 0 0 6 0 0 1 0 5.104 118973 chr22 32667097 32667097 C T rs4821043 SLC5A4-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 13.24 118974 chrX 135741443 135741443 G A rs148594123 CD40LG Nonsynonymous SNV G219R 0.001 0.005 0.01 1 1 2 0.003 3 0 1 1 0 Benign/Likely benign 13.03 118975 chr9 132375835 132375835 C A C9orf50 Nonsynonymous SNV V308L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.414 118976 chrX 112025849 112025849 T C rs1025886655 AMOT Nonsynonymous SNV D720G 0.003 0.005 0 1 3 2 0.003 0 1 1 0 0 23.7 118977 chr9 132403000 132403000 G A ASB6 Nonsynonymous SNV P39S 0.001 0 0 0 1 0 0 0 0 0 0 0 12 118978 chr9 132620379 132620379 C G rs10988533 USP20 Synonymous SNV T62T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.69 118979 chr22 36206037 36206037 C T rs199502357 RBFOX2 Synonymous SNV P14P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 118980 chr9 132638424 132638424 C T rs9644953 USP20 Synonymous SNV P772P 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 16.43 118981 chr9 133506015 133506015 G C rs757066522 FUBP3 Nonsynonymous SNV G373A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 118982 chrX 129629599 129629599 C T rs201967377 DENND10P1 0.004 0.01 0.003 3 5 4 0.008 1 0 2 0 1 2.577 118983 chr22 37962710 37962710 C T rs202138466 CDC42EP1 Synonymous SNV N118N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 118984 chr9 134073894 134073894 G A rs149982504 NUP214 Synonymous SNV T497T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 2.902 118985 chr11 102573759 102573759 T G rs143595143 MMP27 Synonymous SNV L144L 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 0.623 118986 chr9 134165689 134165689 G A rs775678925 PLPP7 Nonsynonymous SNV R102Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.54 118987 chrX 134483151 134483151 C T rs2286479 ZNF449 Synonymous SNV A157A 0.009 0.018 0.007 6 10 7 0.015 2 2 3 1 1 10.36 118988 chrX 153296119 153296119 G A rs63390262 MECP2 Nonsynonymous SNV P399L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 16.99 118989 chr10 133795280 133795280 C A BNIP3 Stop gain E76X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 118990 chr8 144895014 144895014 G A rs144565607 SCRIB Synonymous SNV L254L 0.008 0 0.01 0 9 0 0 3 0 0 0 0 Benign 4.911 118991 chrX 18213495 18213495 T C rs374513037 BEND2 Synonymous SNV T367T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.029 118992 chr9 136029611 136029611 C T rs117609609 GBGT1 Nonsynonymous SNV E116K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 118993 chrX 18938291 18938291 G C PHKA2 Nonsynonymous SNV L608V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 118994 chrX 19416368 19416368 T C rs1031409891 MAP3K15 Nonsynonymous SNV K681R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 118995 chrX 153069788 153069788 C T PDZD4 Nonsynonymous SNV A335T 0.001 0.008 0 2 1 3 0.005 0 0 1 0 1 15.59 118996 chrX 2951226 2951226 C G rs61995755 ARSH Nonsynonymous SNV P497A 0.003 0 0 2 3 0 0.005 0 1 0 0 1 Uncertain significance 0.176 118997 chrX 154020049 154020049 C T MPP1 Nonsynonymous SNV R90K 0.001 0.008 0 2 1 3 0.005 0 0 1 0 1 22.7 118998 chr10 135182516 135182516 C T ECHS1 Nonsynonymous SNV G142D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 118999 chrX 16863209 16863209 A G RBBP7 Synonymous SNV N453N 0.003 0 0 2 4 0 0.005 0 1 0 0 1 0.3 119000 chrX 19014221 19014221 C T ADGRG2 Synonymous SNV K850K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 119001 chr8 145138149 145138149 G T rs782748731 GPAA1 Nonsynonymous SNV G66V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 119002 chrX 47429050 47429050 G A rs62636604 ARAF Synonymous SNV L474L 0.003 0.005 0 0 3 2 0 0 1 1 0 0 Benign 8.643 119003 chr22 44968084 44968084 T C rs561679139 LINC00207 0 0 0.007 0 0 0 0 2 0 0 0 0 0.828 119004 chr22 45291943 45291943 C A rs115779640 PHF21B Synonymous SNV A230A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.8 119005 chrX 49958633 49958633 C T AKAP4 Nonsynonymous SNV S244N 0.001 0.01 0 0 1 4 0 0 0 2 0 0 0.001 119006 chrX 50377214 50377214 A G SHROOM4 Nonsynonymous SNV V620A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.625 119007 chrX 31947797 31947797 G A rs72466595 DMD Synonymous SNV P935P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.374 119008 chr9 139250804 139250804 G A rs79557901 GPSM1 Synonymous SNV S32S 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 1.497 119009 chrX 54159204 54159204 T C rs45611732 FAM120C Synonymous SNV V661V 0.004 0.016 0 0 5 6 0 0 1 2 0 0 Benign 7.479 119010 chrX 32663171 32663171 C T rs760621626 DMD Synonymous SNV S345S 0.003 0 0.007 0 4 0 0 2 1 0 1 0 Benign/Likely benign 13.7 119011 chr9 139277994 139277994 - GCTGCT rs560108191 SNAPC4 S542_E543insSS 0.005 0.01 0.007 4 6 4 0.01 2 0 0 0 0 119012 chrX 48830606 48830606 T C rs3027479 GRIPAP1 Synonymous SNV X842X 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 8.609 119013 chrX 63563546 63563546 G A rs748044860 MTMR8 Nonsynonymous SNV S307L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 119014 chr9 139700576 139700576 T C rs774753826 CCDC183 Nonsynonymous SNV L332P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 119015 chrX 51640959 51640959 G A rs781878717 MAGED1 Synonymous SNV E545E 0.003 0 0 0 3 0 0 0 1 0 0 0 3.898 119016 chr22 47857295 47857295 T C rs135450 LINC01644 0 0 0.007 0 0 0 0 2 0 0 1 0 5.256 119017 chr10 23633660 23633660 A G rs185191255 C10orf67 Nonsynonymous SNV I16T 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 13.21 119018 chr9 139910045 139910045 C T rs538517999 ABCA2 Nonsynonymous SNV R1173H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 119019 chrX 54956147 54956266 CTGACTTTGGCGGTACACTAAGCACCAGTGTCTGCTTTGGTGGCTCTCCTGGCACCAGTGTCAGCTTTGGCAGTGCACTCAACACCAATGCTGGTTATGGTGGTGCTGTCAGCACCAACA - TRO G545_P584del 0.003 0 0 0 3 0 0 0 1 0 0 0 119020 chr9 139925205 139925205 C T rs199951552 FUT7 Nonsynonymous SNV R329H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 119021 chrX 50376592 50376592 G A rs200860508 SHROOM4 Synonymous SNV D827D 0.003 0 0 0 3 0 0 0 0 0 0 0 6.597 119022 chr11 117310107 117310107 C T rs61730454 DSCAML1 Nonsynonymous SNV R1340Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 28.9 119023 chrX 54319645 54319645 G C rs782382951 WNK3 Nonsynonymous SNV I603M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.107 119024 chrX 55051258 55051258 G A rs140052536 ALAS2 Nonsynonymous SNV A66V 0.003 0.005 0 0 4 2 0 0 0 1 0 0 Benign 14.67 119025 chrX 54949190 54949190 T C rs184459343 TRO Synonymous SNV P75P 0.006 0.016 0.007 6 7 6 0.015 2 1 1 1 2 0.899 119026 chr11 118047103 118047103 G A rs201373014 SCN2B Nonsynonymous SNV T15M 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Uncertain significance 23.9 119027 chrX 66765624 66765624 G A rs150226204 AR Synonymous SNV R212R 0.008 0.01 0.003 2 9 4 0.005 1 1 2 0 0 Benign 5.725 119028 chrX 70777456 70777456 A G rs143784248 OGT Synonymous SNV L512L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.247 119029 chrX 75649303 75649303 G A rs145140241 MAGEE1 Nonsynonymous SNV G327E 0.001 0.005 0 1 1 2 0.003 0 0 1 0 0 13.7 119030 chr22 51063656 51063656 C T rs148352371 ARSA Nonsynonymous SNV E483K 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.657 119031 chr9 140918120 140918120 G C rs201396139 CACNA1B Synonymous SNV P975P 0.007 0.008 0.007 1 8 3 0.003 2 1 0 0 0 Benign 10.95 119032 chr8 21883167 21883167 G A rs551926697 NPM2 Nonsynonymous SNV G52R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.3 119033 chrX 36317165 36317165 G A rs16987461 CFAP47 Nonsynonymous SNV S2587N 0 0 0.007 4 0 0 0.01 2 0 0 1 1 0.001 119034 chr2 102828597 102828597 C G rs150242167 IL1RL2 Nonsynonymous SNV I111M 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 24.6 119035 chr10 102247438 102247438 C T rs150586701 SEC31B Nonsynonymous SNV E1159K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 25 119036 chr10 102249083 102249083 T A rs148697151 SEC31B Nonsynonymous SNV I1033F 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.895 119037 chr2 111907706 111907706 C T rs142641143 BCL2L11 Synonymous SNV N70N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 119038 chr2 113480320 113480320 T A rs61743392 NT5DC4 Nonsynonymous SNV F141I 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 25.1 119039 chr10 103577629 103577629 C T rs35402016 OGA Nonsynonymous SNV A51T 0.006 0.01 0 0 7 4 0 0 0 0 0 0 8.45 119040 chr10 47087335 47087335 C - rs557565719 NPY4R, NPY4R2 H185Tfs*76 0.006 0.003 0 0 7 1 0 0 0 0 0 0 119041 chr2 11727568 11727568 G A rs138327123 GREB1 Nonsynonymous SNV R407Q 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 3.253 119042 chr1 2431099 2431099 A G rs145549953 PLCH2 Synonymous SNV L840L 0.006 0.003 0 0 7 1 0 0 1 0 0 0 Benign 0.147 119043 chr1 2431102 2431102 A G rs138167803 PLCH2 Synonymous SNV E841E 0.006 0.003 0 0 7 1 0 0 1 0 0 0 Benign 0.629 119044 chr1 2436489 2436489 T G rs200148931 PLCH2 Nonsynonymous SNV L1363R 0.004 0.003 0 0 5 1 0 0 1 0 0 0 3.988 119045 chr9 35079502 35079502 G A rs35984312 FANCG Nonsynonymous SNV S7F 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Benign/Likely benign 7.443 119046 chr9 35560166 35560166 C T rs781023461 RUSC2 Nonsynonymous SNV R299W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 119047 chr2 120003939 120003939 C G rs838082 STEAP3-AS1 0 0 0.054 0 0 0 0 16 0 0 7 0 3.324 119048 chr10 105928535 105928535 C T rs139080358 CFAP43 Stop gain W886X 0.003 0.005 0 0 4 2 0 0 0 0 0 0 39 119049 chr8 28628535 28628535 G A rs765527295 INTS9 Synonymous SNV A521A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.1 119050 chr2 128477319 128477319 G A rs749048997 WDR33 Synonymous SNV G760G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.324 119051 chr10 5790117 5790117 C G TASOR2 Nonsynonymous SNV P1497R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 119052 chr10 115534026 115534026 T C rs528871411 PLEKHS1 Nonsynonymous SNV I150T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 119053 chr2 136614441 136614441 C T rs759786957 MCM6 Nonsynonymous SNV A495T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 119054 chrX 124029916 124029916 T C TENM1 Nonsynonymous SNV E131G 0 0 0 2 0 0 0.005 0 0 0 0 0 9.522 119055 chr11 129802059 129802059 G A rs892623096 PRDM10 Nonsynonymous SNV P323S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 119056 chr9 71395834 71395834 G A rs200554338 FAM122A Nonsynonymous SNV G252R 0.002 0.01 0 0 2 4 0 0 0 0 0 0 31 119057 chr11 130343157 130343157 C T rs369552843 ADAMTS15 Nonsynonymous SNV A765V 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 119058 chr10 69959174 69959174 C T rs71534278 MYPN Nonsynonymous SNV P1112L 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 119059 chr9 74305124 74305124 G A rs146250740 CEMIP2 Synonymous SNV V1182V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.254 119060 chr2 152420361 152420361 C T rs145252235 NEB Synonymous SNV K4484K 0.01 0.013 0.024 0 12 5 0 7 0 0 0 0 Benign 15.55 119061 chr2 152473982 152473982 G A rs539139958 NEB Nonsynonymous SNV R3450C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 119062 chr1 11561170 11561170 G A rs758490195 DISP3 Nonsynonymous SNV G41R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.615 119063 chr10 123842351 123842351 C A rs773704307 TACC2 Synonymous SNV P112P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.74 119064 chr1 11832269 11832269 C A rs78679082 C1orf167 Synonymous SNV A647A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.52 119065 chr10 71637822 71637822 G T rs778599406 COL13A1 0.002 0 0 0 2 0 0 0 0 0 0 0 16.8 119066 chr10 71640261 71640261 G T COL13A1 Synonymous SNV G125G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 119067 chr9 79321940 79321940 C T rs149690996 PRUNE2 Synonymous SNV E1750E 0.011 0.008 0.01 2 13 3 0.005 3 0 0 0 0 6.904 119068 chr10 71905701 71905701 G A rs781037714 TYSND1 Synonymous SNV P214P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.119 119069 chrX 151303216 151303216 G A rs149591320 MAGEA10 Nonsynonymous SNV R293W 0 0 0 3 0 0 0.008 0 0 0 0 1 15.55 119070 chr1 11845272 11845272 C T rs80132110 C1orf167 Nonsynonymous SNV R1165W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27 119071 chr1 11856335 11856335 G A rs34279942 MTHFR Synonymous SNV F277F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.21 119072 chr9 82264755 82264755 C T rs761423659 TLE4 Synonymous SNV D137D 0.004 0 0 0 5 0 0 0 0 0 0 0 1.541 119073 chr1 11918837 11918837 A G rs35628673 NPPB Synonymous SNV H18H 0.008 0.008 0 6 9 3 0.015 0 0 0 0 0 Benign 0.015 119074 chr1 12014920 12014920 C T rs199990859 PLOD1 Nonsynonymous SNV R205C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 34 119075 chrX 153608096 153608096 C T rs781938390 EMD Synonymous SNV T43T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.02 119076 chr8 82644938 82644938 T C CHMP4C Nonsynonymous SNV L26P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 119077 chr8 87560554 87560554 A G rs201767063 CPNE3 Nonsynonymous SNV N302S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 119078 chr2 166848583 166848583 G A rs140664455 SCN1A Synonymous SNV L1734L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.92 119079 chr10 13240791 13240791 C A rs41291311 MCM10 Nonsynonymous SNV T741K 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 22.8 119080 chr8 79578393 79578393 C A rs139794142 ZC2HC1A Nonsynonymous SNV L4M 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.4 119081 chr2 169985338 169985338 C T rs34564141 LRP2 Nonsynonymous SNV M4601I 0.009 0.018 0.02 2 10 7 0.005 6 0 0 0 0 Benign 22.9 119082 chr2 170010983 170010983 C G rs750609040 LRP2 Nonsynonymous SNV K4094N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.4 119083 chr2 170402802 170402802 T C rs776368789 FASTKD1 Nonsynonymous SNV I520V 0 0 0.003 0 0 0 0 1 0 0 0 0 22 119084 chr1 1374723 1374723 G A rs373867476 VWA1 Synonymous SNV R298R 0 0 0 2 0 0 0.005 0 0 0 0 0 1.044 119085 chr9 100367025 100367025 G A rs375232948 TSTD2 Synonymous SNV N412N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.468 119086 chr10 134540331 134540331 T C rs33999092 INPP5A Synonymous SNV I154I 0.005 0 0 3 6 0 0.008 0 1 0 0 0 0.165 119087 chr10 134622046 134622046 C T rs73387072 CFAP46 Nonsynonymous SNV R2676H 0.004 0 0 3 5 0 0.008 0 1 0 0 0 11.81 119088 chr10 135012672 135012672 G A rs138963989 KNDC1 Nonsynonymous SNV R887K 0.011 0.005 0.014 2 13 2 0.005 4 0 0 0 0 3.894 119089 chr10 134626383 134626383 C T rs7090011 CFAP46 Synonymous SNV Q2469Q 0.004 0 0 3 5 0 0.008 0 1 0 0 0 13.92 119090 chr10 89503352 89503352 T C PAPSS2 Nonsynonymous SNV I477T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 119091 chr1 19422062 19422062 C T UBR4 Nonsynonymous SNV V4535I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 119092 chr10 90512485 90512485 T C rs17112457 LIPK Nonsynonymous SNV I391T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 119093 chr1 19652766 19652766 T C rs148404958 SLC66A1 Nonsynonymous SNV L137S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.676 119094 chrX 114424836 114424836 G A rs62601529 RBMXL3 Nonsynonymous SNV D278N 0.018 0.021 0.003 13 21 8 0.033 1 5 1 0 4 5.176 119095 chrX 114425192 114425192 - CCCAACGCCCACAGCGGAGGCCGCTCA rs782116436 RBMXL3 P397_D398insNAHSGGRSP 0.003 0 0.003 0 3 0 0 1 0 0 0 0 119096 chr1 2129498 2129498 G A rs202085505 FAAP20 Nonsynonymous SNV P107S 0 0 0 2 0 0 0.005 0 0 0 0 0 4.314 119097 chr10 90771767 90771767 G A rs56006128 FAS Nonsynonymous SNV E173K 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.023 119098 chr10 91098805 91098805 C T rs148538816 IFIT3 Synonymous SNV Y131Y 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 2.709 119099 chr9 104357062 104357062 C T rs151333989 PPP3R2 Nonsynonymous SNV E48K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.5 119100 chr1 3732904 3732904 C T CEP104 Nonsynonymous SNV G868S 0 0 0 2 0 0 0.005 0 0 0 0 0 27 119101 chr9 107456995 107456995 T A rs80260519 OR13D1 Nonsynonymous SNV L98H 0.003 0 0.007 0 4 0 0 2 0 0 0 0 26.6 119102 chr11 34218997 34218997 C T rs374255572 ABTB2 Synonymous SNV P373P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 119103 chr10 97154762 97154762 G A rs17110703 SORBS1 Synonymous SNV S299S 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 10.82 119104 chr11 36248676 36248676 C G rs147959076 LDLRAD3 Nonsynonymous SNV L117V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 119105 chr10 22830863 22830863 G A rs111483402 PIP4K2A Synonymous SNV G243G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.24 119106 chr9 110249816 110249816 G A rs139237114 KLF4 Nonsynonymous SNV H287Y 0.003 0 0 0 4 0 0 0 0 0 0 0 23.8 119107 chr10 27425308 27425308 A G rs147243198 YME1L1 Nonsynonymous SNV I113T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Benign 22.9 119108 chr1 8403944 8403944 C T rs148858689 SLC45A1 Synonymous SNV N706N 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 10.5 119109 chr1 8415513 8415513 C T RERE Nonsynonymous SNV G991S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 119110 chr9 112166785 112166785 T A PTPN3 Synonymous SNV G300G 0.003 0 0 0 3 0 0 0 0 0 0 0 9.954 119111 chr10 99527407 99527407 T G rs150285284 SFRP5 Nonsynonymous SNV D273A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 119112 chr11 430112 430112 G A rs370621568 ANO9 Nonsynonymous SNV R104W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 119113 chr1 26520354 26520354 T C rs151280406 CATSPER4 Nonsynonymous SNV L145P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 119114 chr2 196548468 196548468 A T rs143138746 SLC39A10 Nonsynonymous SNV N352Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 119115 chr10 3172104 3172104 A G PFKP Nonsynonymous SNV M326V 0.003 0 0 0 3 0 0 0 0 0 0 0 12 119116 chrX 153219721 153219721 G A rs782569675 HCFC1 Nonsynonymous SNV L1377F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.03 119117 chrX 153763426 153763426 C T G6PD Nonsynonymous SNV E178K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 119118 chr2 198669930 198669930 C T rs958726865 PLCL1 Nonsynonymous SNV A36V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.422 119119 chr9 125289523 125289523 G A rs147834588 OR1N1 Nonsynonymous SNV A17V 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 0.911 119120 chr2 20130302 20130302 G - WDR35 L993Wfs*46 0 0 0.003 0 0 0 0 1 0 0 0 0 119121 chr2 201469439 201469439 G A rs61695335 AOX1 Synonymous SNV S230S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 1.028 119122 chr2 201478572 201478572 G C AOX1 Synonymous SNV L498L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.877 119123 chr2 201533456 201533456 A G AOX1 Nonsynonymous SNV D1243G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 119124 chrX 18959726 18959726 A C rs145406549 PHKA2 Nonsynonymous SNV I262S 0.005 0.01 0.01 0 6 4 0 3 2 2 1 0 27.9 119125 chr11 47459575 47459575 C T rs139398367 RAPSN Nonsynonymous SNV R338Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 119126 chr11 47772711 47772711 G C rs148965139 FNBP4 Nonsynonymous SNV Q259E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 14.67 119127 chr10 46965762 46965762 C - rs546907719 LOC102724488, SYT15 D143Tfs*34 0.002 0 0 0 2 0 0 0 0 0 0 0 119128 chr1 15753662 15753662 G A rs145159120 EFHD2 Nonsynonymous SNV R158H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 23.2 119129 chr2 20701120 20701120 C G rs116751246 LOC107985856 0 0 0.017 0 0 0 0 5 0 0 1 0 2.879 119130 chr2 207172481 207172481 G T ZDBF2 Nonsynonymous SNV D1077Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.673 119131 chrX 37984608 37984608 G A SYTL5 Synonymous SNV K655K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 119132 chr9 12775855 12775855 T C rs572021640 LURAP1L Synonymous SNV G47G 0.01 0.018 0.017 9 12 7 0.023 5 0 0 0 0 0.588 119133 chr10 48389841 48389841 C T rs111245635 RBP3 Nonsynonymous SNV R346H 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 Benign 28.3 119134 chr1 16736538 16736538 C T rs201182640 SPATA21 Nonsynonymous SNV E26K 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 19.29 119135 chr10 49393643 49393643 C T rs141722516 FRMPD2 Nonsynonymous SNV R746Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 9.758 119136 chrX 48689717 48689717 C G rs782736181 PCSK1N Nonsynonymous SNV E246Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24 119137 chrX 51644984 51644984 C T rs149192593 MAGED1 Synonymous SNV F765F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.27 119138 chr1 17764914 17764914 C A rs564876055 RCC2 Nonsynonymous SNV G33C 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 24.4 119139 chr1 17764915 17764915 C T rs527576288 RCC2 Synonymous SNV A32A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 20.6 119140 chr1 36927738 36927738 G T MRPS15 Nonsynonymous SNV P68T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.7 119141 chr9 130479233 130479233 A G rs115326841 TTC16 Synonymous SNV Q43Q 0.009 0.01 0.003 0 11 4 0 1 0 0 0 0 0.006 119142 chr9 130635716 130635716 G A rs116301334 AK1 Synonymous SNV C4C 0.01 0.008 0.007 1 12 3 0.003 2 0 0 0 0 4.497 119143 chr1 40767556 40767556 G A rs749078666 COL9A2 Nonsynonymous SNV R600C 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 29.4 119144 chr2 219247711 219247711 G A rs17221910 SLC11A1 Synonymous SNV G12G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.241 119145 chr11 104912206 104912206 G A rs751597763 CARD16 Nonsynonymous SNV P172L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 119146 chrX 84558489 84558489 G C rs363754 POF1B Synonymous SNV L524L 0.005 0 0 0 6 0 0 0 1 0 0 0 Benign 9.608 119147 chr2 219603037 219603037 A G rs149575697 TTLL4 Nonsynonymous SNV Y213C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.72 119148 chr1 42041242 42041242 G A rs147472354 HIVEP3 Nonsynonymous SNV P1727L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 34 119149 chr11 105880382 105880382 T C rs17104910 MSANTD4 Synonymous SNV Q306Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 119150 chr11 106849456 106849456 C T rs770686572 GUCY1A2 Nonsynonymous SNV A126T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.42 119151 chr11 1075763 1075763 C T rs375280198 MUC2 Synonymous SNV F63F 0.003 0 0 0 3 0 0 0 0 0 0 0 14.38 119152 chr1 43396444 43396444 G A SLC2A1 Synonymous SNV I123I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14 119153 chr10 63170245 63170245 C T rs199811582 TMEM26 Synonymous SNV S314S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.57 119154 chr1 44058143 44058143 G A rs3748800 PTPRF Nonsynonymous SNV D562N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.1 119155 chr11 108381171 108381171 C T EXPH5 Nonsynonymous SNV S1500N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.688 119156 chr11 1103270 1103270 G A rs72655355 MUC2 Nonsynonymous SNV V2674I 0.003 0 0 0 4 0 0 0 0 0 0 0 11.17 119157 chr1 44604992 44604992 G A rs769153737 KLF18 Nonsynonymous SNV T771M 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.072 119158 chr10 69644820 69644820 C A rs182199697 SIRT1 Nonsynonymous SNV P114Q 0.008 0 0.007 2 9 0 0.005 2 0 0 0 0 11.32 119159 chr1 1116222 1116222 - G rs757394688 TTLL10 Frameshift insertion V176Gfs*57 0.007 0 0 1 8 0 0.003 0 0 0 0 0 119160 chr1 46650706 46650706 C T TSPAN1 Synonymous SNV P171P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.43 119161 chr1 1916895 1916895 G A rs375084574 CFAP74 Nonsynonymous SNV R144C 0.003 0 0 0 3 0 0 0 0 0 0 0 10.99 119162 chr10 71142492 71142492 C T rs140498607 HK1 Synonymous SNV N473N 0.01 0 0.02 2 12 0 0.005 6 0 0 1 0 Benign/Likely benign 10.09 119163 chr9 136277961 136277961 T C rs781819101 REXO4 Nonsynonymous SNV K81R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.008 119164 chr10 71211403 71211403 T C TSPAN15 Nonsynonymous SNV L18P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 119165 chr2 227661115 227661115 C T rs151052373 IRS1 Synonymous SNV P780P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.384 119166 chr9 136910445 136910445 G A rs145953326 BRD3 Synonymous SNV H395H 0.006 0.005 0 0 7 2 0 0 0 0 0 0 10.54 119167 chr2 228771913 228771913 A G rs201221782 DAW1 Nonsynonymous SNV I306M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 119168 chr10 73051301 73051301 C T rs202096469 UNC5B Synonymous SNV T458T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.01 119169 chr10 73057728 73057728 G C rs143540096 UNC5B Synonymous SNV L840L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.78 119170 chr9 138715080 138715080 G A rs35639321 CAMSAP1 Nonsynonymous SNV A476V 0.009 0.005 0.014 3 11 2 0.008 4 0 0 0 0 6.605 119171 chr10 73511604 73511604 A G rs151170391 VSIR Nonsynonymous SNV I240T 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 22.8 119172 chr10 7621875 7621875 T G rs36056263 ITIH5 Nonsynonymous SNV N207H 0.004 0.01 0.007 5 5 4 0.013 2 0 0 0 0 17.28 119173 chr2 232081369 232081369 G A rs201901213 ARMC9 Nonsynonymous SNV E123K 0 0 0.01 0 0 0 0 3 0 0 0 0 Uncertain significance 16.68 119174 chr10 73539064 73539064 C A rs191021194 CDH23 Nonsynonymous SNV T1743N 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 119175 chr2 233164817 233164817 G A rs200386096 DIS3L2 Nonsynonymous SNV R576H 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Uncertain significance 22.6 119176 chr11 119077175 119077175 C T CBL Synonymous SNV G16G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.77 119177 chr10 73574728 73574728 A C rs140463385 CDH23 Nonsynonymous SNV D115A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign/Likely benign 23.8 119178 chr2 233409221 233409221 C G rs771886490 CHRNG Nonsynonymous SNV P394A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 119179 chr10 73578839 73578839 G A rs1049882 PSAP Synonymous SNV P462P 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign/Likely benign 12.7 119180 chr10 79616564 79616564 G A rs111767303 DLG5 Nonsynonymous SNV R154W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 119181 chr9 138590318 138590318 G A rs372765282 SOHLH1 Nonsynonymous SNV R68W 0.003 0 0 0 4 0 0 0 0 0 0 0 26.1 119182 chr10 74100831 74100831 A G rs41282266 DNAJB12 Synonymous SNV H185H 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 4.629 119183 chr10 79814566 79814566 C T rs111658974 RPS24 Nonsynonymous SNV S223L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.408 119184 chr10 81192496 81192496 A C rs144987484 ZCCHC24 Nonsynonymous SNV Y89D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 119185 chr10 85993888 85993888 C A rs373737385 LRIT1 Nonsynonymous SNV G279V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 119186 chr9 139694566 139694566 T C rs200265456 CCDC183 Nonsynonymous SNV L128P 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 119187 chr11 122726490 122726490 C T rs147423411 CRTAM Nonsynonymous SNV T193M 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 24.8 119188 chr11 12316378 12316389 CTCCTCCTCCTA - rs542581403 MICALCL P468_T471del 0.006 0 0 0 7 0 0 0 0 0 0 0 119189 chr1 39951243 39951243 G A rs77696779 MACF1 Nonsynonymous SNV R5357Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 33 119190 chr1 40219022 40219022 G A rs549682152 PPIE Nonsynonymous SNV V301M 0 0 0 2 0 0 0.005 0 0 0 0 0 18.13 119191 chr10 95161257 95161257 A G MYOF Synonymous SNV S345S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.773 119192 chr10 95394530 95394530 G A rs148611776 PDE6C Nonsynonymous SNV E379K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.5 119193 chr2 239039882 239039882 G A rs201231172 ESPNL Nonsynonymous SNV V475M 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 119194 chr1 74937781 74937781 T C rs61729305 LRRC53 Nonsynonymous SNV I509V 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 6.073 119195 chr1 74937847 74937847 G T rs61729310 LRRC53 Nonsynonymous SNV P487T 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 10.45 119196 chr9 140075314 140075314 C T rs146077541 ANAPC2 Synonymous SNV K512K 0.003 0 0 0 4 0 0 0 0 0 0 0 16.13 119197 chr2 239079309 239079309 C A rs141848989 ILKAP Nonsynonymous SNV K349N 0 0 0.007 0 0 0 0 2 0 0 0 0 23 119198 chr10 95161268 95161268 C T rs41290202 MYOF Nonsynonymous SNV D342N 0.011 0.003 0.007 3 13 1 0.008 2 0 0 0 0 32 119199 chr1 15844652 15844652 T G rs531131783 CASP9 Nonsynonymous SNV E124A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.357 119200 chr1 85279730 85279730 G A rs61746765 LPAR3 Synonymous SNV V287V 0.004 0.01 0.007 3 5 4 0.008 2 0 0 0 0 15.52 119201 chr1 86909567 86909567 C T rs763764816 CLCA2 Nonsynonymous SNV T529M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.16 119202 chr2 242756317 242756317 G A rs116702646 NEU4 Nonsynonymous SNV E157K 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 22 119203 chr1 17294742 17294742 C T rs138297402 CROCC Synonymous SNV G1635G 0.003 0 0 0 4 0 0 0 0 0 0 0 18.22 119204 chr2 242839372 242839372 G A rs78233573 LOC285095 0 0 0.017 0 0 0 0 5 0 0 0 0 10.16 119205 chr2 25057715 25057715 C T ADCY3 Nonsynonymous SNV E585K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 119206 chr10 97779523 97779523 G A CC2D2B Nonsynonymous SNV S241N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.62 119207 chr10 98743352 98743352 C T rs146791457 LCOR Synonymous SNV H1045H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 9.843 119208 chr1 89655720 89655720 C T rs41296177 GBP4 0.011 0.01 0.01 4 13 4 0.01 3 0 0 0 0 23.6 119209 chr9 34658655 34658655 C A rs762844418 IL11RA Nonsynonymous SNV P262Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 119210 chr9 35378401 35378401 C T rs55720245 UNC13B Synonymous SNV N272N 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 13.2 119211 chr9 34241616 34241616 A G rs140180675 UBAP1 Nonsynonymous SNV N262S 0.008 0.016 0.003 0 9 6 0 1 0 0 0 0 0.006 119212 chr1 21625273 21625273 G A rs766047745 ECE1-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 7.15 119213 chr2 29259436 29259436 G A rs148087998 TOGARAM2 Synonymous SNV Q625Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.612 119214 chr2 29259479 29259479 G A rs535137926 TOGARAM2 Nonsynonymous SNV A640T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 10.71 119215 chr2 29390348 29390348 A G rs114860338 CLIP4 Synonymous SNV T555T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 1.522 119216 chr1 55073719 55073719 G A rs12403630 ACOT11 Nonsynonymous SNV R536H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23 119217 chr1 55076197 55076197 C T rs58464768 FAM151A Synonymous SNV T324T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.73 119218 chr1 22852866 22852866 C A ZBTB40 Nonsynonymous SNV L1121M 0.003 0 0 0 3 0 0 0 0 0 0 0 27 119219 chr2 32740204 32740204 A G rs61754132 BIRC6 Synonymous SNV Q3572Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.255 119220 chr9 5358314 5358314 C T rs780267733 PLGRKT Synonymous SNV L123L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.37 119221 chr2 33774794 33774794 C A RASGRP3 Synonymous SNV T505T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 119222 chr2 3627733 3627733 T C RPS7 Synonymous SNV L130L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.154 119223 chr1 26303178 26303178 T C rs116685257 PAFAH2 Synonymous SNV Q251Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.018 119224 chr2 44051118 44051118 C T rs747481748 ABCG5 Nonsynonymous SNV V420I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.18 119225 chr11 103014061 103014061 A G rs373531037 DYNC2H1 Nonsynonymous SNV H880R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.798 119226 chr1 110603652 110603652 G C rs375181985 ALX3 Synonymous SNV S245S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.98 119227 chr1 66036181 66036181 T C rs926586992 LEPR Synonymous SNV F22F 0 0 0 2 0 0 0.005 0 0 0 0 0 5.424 119228 chr2 47604856 47604856 T C rs114803590 MIR559 0 0 0.01 0 0 0 0 3 0 0 0 0 1.592 119229 chr2 47698108 47698108 T C rs61756466 MSH2 Synonymous SNV L556L 0.004 0.01 0.014 2 5 4 0.005 4 0 0 0 0 Benign 6.125 119230 chr9 72723209 72723209 A G rs2975886 MAMDC2 Synonymous SNV E77E 0.008 0.005 0.024 0 9 2 0 7 0 0 1 0 7.459 119231 chr9 72723224 72723224 T C rs2975887 MAMDC2 Synonymous SNV R82R 0.008 0.005 0.024 0 9 2 0 7 0 0 1 0 2.107 119232 chr1 28209002 28209002 C T rs76072311 THEMIS2 Synonymous SNV D389D 0.026 0.016 0.014 12 31 6 0.031 4 0 0 0 0 7.526 119233 chr11 107396312 107396312 C T rs1013416959 ALKBH8 Synonymous SNV T298T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.23 119234 chr1 113661959 113661959 G A rs545482526 LRIG2 Nonsynonymous SNV V929I 0 0.005 0 0 0 2 0 0 0 0 0 0 17.9 119235 chr11 103908476 103908476 T C rs534825593 DDI1 Nonsynonymous SNV I309T 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 25.2 119236 chr11 108384013 108384013 C G rs146857158 EXPH5 Nonsynonymous SNV D553H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.5 119237 chr11 10650303 10650303 G A rs373371120 MRVI1 Nonsynonymous SNV P207L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.79 119238 chr11 108382793 108382793 C A rs34012545 EXPH5 Nonsynonymous SNV M959I 0.005 0.016 0.003 3 6 6 0.008 1 0 0 0 0 Benign 0.004 119239 chr9 95277001 95277013 CAGAGAGCACCCG - rs534479751 ECM2 G297Pfs*18 0.007 0 0.007 1 8 0 0.003 2 0 0 0 0 119240 chr11 108057279 108057279 C T rs202140027 NPAT Nonsynonymous SNV S219N 0.003 0 0 0 4 0 0 0 0 0 0 0 12.55 119241 chr2 71297922 71297922 G A rs192172897 NAGK Nonsynonymous SNV A5T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 29.8 119242 chr11 113688531 113688531 G A rs753542738 USP28 Nonsynonymous SNV R105W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 35 119243 chr9 90588862 90588862 A C CDK20 Nonsynonymous SNV L55R 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 28.4 119244 chr9 90588863 90588863 G C CDK20 Nonsynonymous SNV L55V 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 25.2 119245 chr9 95221956 95221957 TA - rs745982674 ASPN L300Qfs*21 0.003 0 0 0 3 0 0 0 0 0 0 0 119246 chr1 150305614 150305614 C T rs376095546 PRPF3 Synonymous SNV I224I 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 16.71 119247 chr11 2930839 2930839 A G rs182004698 SLC22A18 Synonymous SNV A230A 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.112 119248 chr1 150531047 150531047 C T rs144757118 ADAMTSL4 Synonymous SNV P827P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.52 119249 chr11 117869669 117869669 C T rs772945751 IL10RA Synonymous SNV N350N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.296 119250 chr11 34184227 34184227 C G ABTB2 Nonsynonymous SNV G705A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.455 119251 chr11 118343378 118343378 G A rs9332772 KMT2A Nonsynonymous SNV E502K 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign 23.6 119252 chr11 118426017 118426017 T C IFT46 Nonsynonymous SNV Y69C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.4 119253 chr11 118498387 118498387 C T rs141040260 PHLDB1 Nonsynonymous SNV P283L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 28.6 119254 chr11 373804 373804 C T rs149327151 B4GALNT4 Synonymous SNV R253R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.41 119255 chr2 9595812 9595812 C T rs770832577 CPSF3 Nonsynonymous SNV T473M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 119256 chr2 99012501 99012501 C T rs367597798 CNGA3 Nonsynonymous SNV R272C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 119257 chrX 153281996 153281996 G A rs202203227 IRAK1 Synonymous SNV S376S 0.002 0 0 0 2 0 0 0 1 0 0 0 9.243 119258 chr1 154744807 154744807 C T rs1051614 KCNN3 Synonymous SNV L364L 0.013 0.016 0 5 15 6 0.013 0 0 0 0 0 12.53 119259 chrX 21861429 21861429 T A rs752875393 MBTPS2 Nonsynonymous SNV Y73N 0.002 0 0 0 2 0 0 0 1 0 0 0 16.85 119260 chr3 101283919 101283919 T C rs760115014 TRMT10C Synonymous SNV I98I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.489 119261 chr3 101571742 101571742 C G rs200501545 NFKBIZ Nonsynonymous SNV T158R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.95 119262 chr11 123676476 123676476 C G rs112514567 OR6M1 Nonsynonymous SNV K194N 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.41 119263 chrX 31222169 31222169 T C rs765865134 DMD Nonsynonymous SNV H171R 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 23.3 119264 chr1 156844188 156844188 G A rs756623123 NTRK1 Synonymous SNV P397P 0.005 0.01 0 0 6 4 0 0 0 0 0 0 14.04 119265 chr3 11301794 11301796 CTT - rs765963183 HRH1 F358del 0 0 0.007 1 0 0 0.003 2 0 0 0 0 119266 chr3 113045451 113045451 T C CFAP44 Nonsynonymous SNV K1453E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 119267 chr11 65484192 65484192 C T KAT5 Synonymous SNV L310L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 119268 chr11 125885335 125885335 G A rs201493965 CDON Synonymous SNV C333C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 6.82 119269 chr3 121340978 121340978 A G rs370367749 FBXO40 Synonymous SNV S234S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 119270 chr1 159784047 159784047 A G rs148399421 FCRL6 Nonsynonymous SNV Y371C 0 0.003 0 0 0 1 0 0 0 0 0 0 22 119271 chr1 160144465 160144465 G A rs767194862 ATP1A4 Nonsynonymous SNV V747I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 119272 chr11 128844125 128844125 C G ARHGAP32 Nonsynonymous SNV Q626H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 119273 chr11 66191115 66191115 C T rs377483297 NPAS4 Nonsynonymous SNV A82V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.814 119274 chr3 122606333 122606333 G A rs531240248 LINC02035 0 0 0.003 0 0 0 0 1 0 0 0 0 0.146 119275 chr11 130319253 130319253 T C rs758888042 ADAMTS15 Nonsynonymous SNV Y129H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 119276 chr11 14501145 14501145 A C COPB1 Nonsynonymous SNV L443R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 119277 chr11 1651150 1651150 G A rs201376522 KRTAP5-5 Nonsynonymous SNV G27D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.817 119278 chr1 167381441 167381441 C G rs776372214 POU2F1 Nonsynonymous SNV Q538E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.62 119279 chr3 126201220 126201220 C T rs202033813 UROC1 Nonsynonymous SNV E667K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.87 119280 chr3 126385091 126385091 C - rs146507124 NUP210P1 0 0 0.061 0 0 0 0 18 0 0 0 0 119281 chr11 68704136 68704136 C T rs146409569 IGHMBP2 Nonsynonymous SNV R730W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 119282 chr10 111640651 111640651 G A rs138300438 XPNPEP1 Synonymous SNV I246I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.65 119283 chr3 132277615 132277615 A G rs560256321 NPHP3-ACAD11 0 0 0.003 0 0 0 0 1 0 0 0 0 4.703 119284 chr1 176563779 176563779 G A rs138546816 PAPPA2 Nonsynonymous SNV V347M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.014 119285 chr11 20968970 20968970 G A rs141323787 NELL1 Nonsynonymous SNV R330H 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 Benign 26.2 119286 chr1 180914480 180914480 A G rs140904251 KIAA1614 Nonsynonymous SNV D1110G 0.015 0.016 0.01 7 18 6 0.018 3 0 0 0 0 28.6 119287 chr10 12077150 12077150 C T rs757385236 UPF2 Synonymous SNV E91E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.71 119288 chr11 2631574 2631574 A C rs576378349 KCNQ1OT1 0.005 0.003 0 8 6 1 0.021 0 0 0 0 0 7.157 119289 chr11 28080499 28080499 A C rs375557615 KIF18A Nonsynonymous SNV L641R 0.003 0.005 0 2 3 2 0.005 0 1 0 0 0 27.7 119290 chr3 14706569 14706569 C T rs78185490 CCDC174 Nonsynonymous SNV R174C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 29.5 119291 chr1 190234101 190234101 G C rs765103774 BRINP3 Nonsynonymous SNV S69W 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24.2 119292 chr3 14799003 14799003 C T rs34045813 C3orf20 Nonsynonymous SNV A567V 0 0.003 0.014 0 0 1 0 4 0 0 1 0 6.723 119293 chr1 158736158 158736158 G T OR6N1 Nonsynonymous SNV H105Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 119294 chr11 32624385 32624385 G A rs186329131 CCDC73 Nonsynonymous SNV T1071M 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 0.183 119295 chr10 124800121 124800121 C T rs58639322 ACADSB Nonsynonymous SNV T46I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.47 119296 chr1 200619577 200619577 C G DDX59 Nonsynonymous SNV K430N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 119297 chr1 200972827 200972827 C A KIF21B Nonsynonymous SNV A367S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 119298 chr3 151283691 151283691 C A rs9842591 MIR5186 0 0 0.054 0 0 0 0 16 0 0 5 0 8.205 119299 chr1 160182974 160182974 A C rs61756023 PEA15 Synonymous SNV R61R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.017 119300 chr10 126715028 126715028 G A rs200146066 CTBP2 Nonsynonymous SNV P434L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.26 119301 chr10 118897442 118897442 G A rs148630891 VAX1 Synonymous SNV A42A 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 Benign 4.482 119302 chr10 120789928 120789928 G A NANOS1 Synonymous SNV R205R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.683 119303 chr3 15717462 15717462 T C rs138768708 ANKRD28 Nonsynonymous SNV M786V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 119304 chr11 379948 379948 C T rs142922840 B4GALNT4 Synonymous SNV S857S 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 17.11 119305 chr3 168825728 168825728 C T rs75041628 MECOM Nonsynonymous SNV D676N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 119306 chr11 44621752 44621752 C T rs138833231 CD82 Synonymous SNV A36A 0 0.01 0.003 0 0 4 0 1 0 0 0 0 22.2 119307 chr10 124608926 124608926 A G rs199609809 FAM24B Nonsynonymous SNV V41A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 119308 chr1 116226687 116226687 C T rs745337729 VANGL1 Nonsynonymous SNV R355W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 119309 chr11 44286605 44286605 G A rs140652481 ALX4 Synonymous SNV S345S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.21 119310 chr1 204957926 204957926 C T rs146213953 NFASC Nonsynonymous SNV P916L 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 21.4 119311 chr11 47201834 47201834 G A rs140112973 PACSIN3 Nonsynonymous SNV T169M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.7 119312 chr11 46671800 46671800 A G rs145617209 ATG13 Nonsynonymous SNV I52V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.17 119313 chr11 473958 473958 A T rs765945545 PTDSS2 Synonymous SNV P116P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 9.713 119314 chr1 172387421 172387421 G A DNM3 Synonymous SNV R847R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.62 119315 chr10 135106008 135106008 T C rs138296826 TUBGCP2 Synonymous SNV P273P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.38 119316 chr3 183508719 183508719 G A rs200795718 YEATS2 Synonymous SNV T1016T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 119317 chr1 173915951 173915951 C T rs139674996 RC3H1 Nonsynonymous SNV G921S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.011 119318 chr10 129901853 129901853 C T rs147473159 MKI67 Nonsynonymous SNV D2391N 0.003 0.013 0.003 7 4 5 0.018 1 0 0 0 0 Likely benign 0.044 119319 chr11 56128648 56128648 T C OR8J1 Nonsynonymous SNV L309P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 119320 chr11 47712214 47712214 G A rs142413922 AGBL2 Nonsynonymous SNV R349C 0.003 0 0 0 3 0 0 0 0 0 0 0 12.45 119321 chr10 16893406 16893406 G C rs57163243 CUBN Nonsynonymous SNV S3164W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.5 119322 chr10 16982057 16982057 G A rs138989259 CUBN Nonsynonymous SNV T1841M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.011 119323 chr12 102589932 102589932 A C PARPBP Nonsynonymous SNV K454Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 119324 chr1 212799538 212799538 G A rs371565461 FAM71A Nonsynonymous SNV R440H 0 0.005 0 0 0 2 0 0 0 0 0 0 5.733 119325 chr3 193333531 193333531 G T rs35801538 OPA1 Synonymous SNV V140V 0.007 0.005 0.017 3 8 2 0.008 5 0 0 0 0 Benign 11.34 119326 chr10 26855927 26855927 C T rs756893811 APBB1IP Nonsynonymous SNV A504V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.35 119327 chr10 27500005 27500005 T C ACBD5 Synonymous SNV L137L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.903 119328 chr10 15713606 15713606 C T rs910770615 ITGA8 Synonymous SNV Q281Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.54 119329 chr1 153043123 153043123 G A rs404408 SPRR2B Nonsynonymous SNV P65S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.091 119330 chr10 28824618 28824618 A G rs375800734 WAC Nonsynonymous SNV Y69C 0.006 0.003 0 4 7 1 0.01 0 1 0 0 0 23.2 119331 chr11 56409209 56409209 G A rs140197428 OR5AP2 Nonsynonymous SNV S236L 0.003 0.01 0.007 1 4 4 0.003 2 0 0 0 0 24.1 119332 chr1 225490915 225490915 C T rs140066130 DNAH14 Nonsynonymous SNV R2897C 0.013 0.016 0.003 6 15 6 0.015 1 0 0 0 0 34 119333 chr11 5079890 5079890 G A rs141739672 OR52E2 Nonsynonymous SNV T323M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.086 119334 chr3 197765714 197765795 TCAGCAACCCAACCACCTTCATCAGCAACCCAACCACCTTCATCAGCAACCCAACCACCTCGTCAGCAACCCAACCACCTCG - LMLN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 119335 chr10 21097556 21097556 G A rs151012132 NEBL Stop gain R882X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 48 119336 chr3 27257337 27257337 C T NEK10 Nonsynonymous SNV A709T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 119337 chr10 23408243 23408243 A C rs199642000 MSRB2 Nonsynonymous SNV K103Q 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 26 119338 chr1 226175970 226175970 T C rs556090747 SDE2 Nonsynonymous SNV N254S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 119339 chr11 5322310 5322310 A G OR51B4 Synonymous SNV Y289Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.364 119340 chr10 23481552 23481552 T G rs755476080 PTF1A Synonymous SNV S31S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 3.383 119341 chr1 156499984 156499984 G A rs568433536 IQGAP3 Synonymous SNV R1439R 0.003 0 0 0 3 0 0 0 0 0 0 0 10.54 119342 chr3 32544147 32544147 T C rs201598355 CMTM6 Nonsynonymous SNV M31V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.003 119343 chr11 56949529 56949529 C T rs80306837 LRRC55 Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 119344 chr3 38047327 38047327 G A rs142867526 VILL Synonymous SNV A462A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.233 119345 chr3 38158348 38158348 G A rs192111270 DLEC1 Nonsynonymous SNV G1386S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.842 119346 chr10 46965017 46965017 C T rs200586361 LOC102724488, SYT15 Nonsynonymous SNV D194N 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 21.9 119347 chr11 57193150 57193150 T C rs181831403 SLC43A3 Nonsynonymous SNV T73A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.988 119348 chr1 228525823 228525823 C T rs191098985 OBSCN Nonsynonymous SNV A5660V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 33 119349 chr11 57461323 57461323 C T rs34222968 ZDHHC5 Nonsynonymous SNV S274L 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 23.1 119350 chr10 31137647 31137647 G A rs35262718 ZNF438 Synonymous SNV L563L 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 10.99 119351 chr10 31810324 31810324 A C rs34846414 ZEB1 Synonymous SNV P613P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.002 119352 chr1 229773661 229773661 C T rs776481660 URB2 Nonsynonymous SNV L1101F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.635 119353 chr1 231175781 231175781 G A rs771752192 FAM89A Synonymous SNV R59R 0 0.005 0 0 0 2 0 0 0 0 0 0 13.57 119354 chr3 40464372 40464372 C T rs144967530 ENTPD3 Nonsynonymous SNV P288L 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 32 119355 chr10 35338673 35338673 C T rs7897024 CUL2 Synonymous SNV R148R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 15.29 119356 chr10 48388548 48388548 G A rs145437524 RBP3 Nonsynonymous SNV A777V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 119357 chr10 35468107 35468107 G A rs11010115 CREM Synonymous SNV K74K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 11.41 119358 chr1 232943474 232943474 C A rs200746267 MAP10 Nonsynonymous SNV S902Y 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 23.8 119359 chr11 5462369 5462369 C A OR51I1 Nonsynonymous SNV V126L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 119360 chr11 58275513 58275513 C G rs370859202 OR5B21 Nonsynonymous SNV Q22H 0.001 0 0 0 1 0 0 0 0 0 0 0 11 119361 chr3 42448647 42448647 C T rs147770623 LYZL4 Nonsynonymous SNV D33N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 8.889 119362 chr3 42567415 42567415 G A rs141209102 VIPR1 Stop gain W63X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 119363 chr10 46967616 46967616 G A rs74128855 LOC102724488, SYT15 Nonsynonymous SNV S38L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.6 119364 chr11 58940075 58940075 C T DTX4 Synonymous SNV L3L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.98 119365 chr10 5139676 5139676 C T AKR1C3 Synonymous SNV N101N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.943 119366 chr10 46999352 46999352 C T rs145549210 GPRIN2 Nonsynonymous SNV P158S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.059 119367 chr10 46999385 46999385 C T rs113256776 GPRIN2 Nonsynonymous SNV P169S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.68 119368 chr11 59562895 59562895 C T rs377204078 STX3 Synonymous SNV H242H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 119369 chr10 47086900 47086900 C T rs74132603 NPY4R, NPY4R2 Synonymous SNV D39D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.013 119370 chr10 47087814 47087814 C - rs555663093 NPY4R, NPY4R2 L346Wfs*21 0.002 0.003 0 0 2 1 0 0 0 0 0 0 119371 chr10 49414829 49414829 G A rs138766410 FRMPD2 Nonsynonymous SNV R562W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.1 119372 chr10 49414953 49414953 G A rs74133708 FRMPD2 Synonymous SNV Y520Y 0.011 0.013 0.01 2 13 5 0.005 3 0 0 0 0 0.174 119373 chr10 49457202 49457202 A G rs440943 FRMPD2 Synonymous SNV V55V 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 4.001 119374 chr10 49459610 49459610 G A rs166815 FRMPD2 Synonymous SNV N48N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.191 119375 chr10 49654462 49654462 C T rs139222347 ARHGAP22 Nonsynonymous SNV G600E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.8 119376 chr10 61829027 61829027 G A rs756041029 ANK3 Nonsynonymous SNV S3871L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.01 119377 chr12 124829399 124829399 G A rs560814961 NCOR2 Synonymous SNV P1476P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.93 119378 chr12 124841318 124841318 G A rs111850964 NCOR2 Synonymous SNV A1027A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.09 119379 chr12 125834090 125834090 G A TMEM132B Nonsynonymous SNV E54K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.189 119380 chr3 47448654 47448654 A G rs776155627 PTPN23 Nonsynonymous SNV N155S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 119381 chr12 12879025 12879025 G A APOLD1 Nonsynonymous SNV G31R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 119382 chr10 70101352 70101352 T C rs139265338 HNRNPH3 Synonymous SNV Y154Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.025 119383 chr3 48612290 48612290 C A COL7A1 Synonymous SNV V2096V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.16 119384 chr3 49017060 49017060 T C rs775754284 ARIH2 Synonymous SNV F227F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.44 119385 chr10 73056490 73056490 T G rs12783281 UNC5B Synonymous SNV T816T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.782 119386 chr11 6233089 6233089 G A rs780864141 FAM160A2 Nonsynonymous SNV R856W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 33 119387 chr10 73056496 73056496 A G rs12781632 UNC5B Synonymous SNV A818A 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.864 119388 chr10 64973890 64973890 A G rs112116567 JMJD1C Synonymous SNV H460H 0.003 0.008 0.014 6 4 3 0.015 4 0 0 0 0 Likely benign 0.092 119389 chr3 52722978 52722978 G A SNORD136 0 0 0.003 0 0 0 0 1 0 0 0 0 7.972 119390 chr10 75565705 75565705 G A rs139545844 NDST2 Nonsynonymous SNV R506W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 119391 chr11 63682141 63682141 G T RCOR2 Synonymous SNV R156R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 119392 chr11 63719762 63719762 G A rs150657969 NAA40 Nonsynonymous SNV V49M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 21.2 119393 chr10 79584179 79584179 C T rs146507058 DLG5 Nonsynonymous SNV R782H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 29.7 119394 chr10 81317083 81317083 T C rs764577010 SFTPA2 Nonsynonymous SNV N220S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 119395 chr10 72015489 72015489 T C rs755954926 NPFFR1 Nonsynonymous SNV M173V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 119396 chr11 6458709 6458709 G A rs748549455 HPX Nonsynonymous SNV R222W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 33 119397 chr3 64607994 64607994 C A ADAMTS9 Nonsynonymous SNV V828L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 119398 chr10 73521683 73521683 G A VSIR Synonymous SNV D61D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.845 119399 chr11 58206766 58206766 C A rs138717529 OR5B12 Nonsynonymous SNV V287F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 119400 chr2 11809637 11809637 T C NTSR2 Nonsynonymous SNV I207V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.489 119401 chr3 97668807 97668807 G A RIOX2 Nonsynonymous SNV T314I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.484 119402 chr10 93614844 93614844 G A rs748399854 TNKS2 Synonymous SNV L958L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.61 119403 chr2 20113881 20113881 C G rs148436608 WDR35 Nonsynonymous SNV Q1093H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.34 119404 chr12 42711606 42711606 C T rs138912646 ZCRB1 Nonsynonymous SNV A70T 0.003 0 0 0 3 0 0 0 0 0 0 0 21.8 119405 chr4 100340280 100340280 T A rs764589391 ADH7 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 119406 chr10 97607409 97607409 C T rs149326648 ENTPD1 Synonymous SNV Y202Y 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 5.104 119407 chr2 24431189 24431189 C T rs917125927 ITSN2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 119408 chr11 66555634 66555634 T C C11orf80 Nonsynonymous SNV I10T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 119409 chr11 60775140 60775140 G C CD6 Nonsynonymous SNV S76T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 119410 chr11 61511036 61511036 G T rs35056845 DAGLA Nonsynonymous SNV G735V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 26.1 119411 chr11 68700847 68700847 C T rs373649545 IGHMBP2 Nonsynonymous SNV T439M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 119412 chr11 69062928 69062928 G A rs141803292 MYEOV Nonsynonymous SNV R36H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.146 119413 chr11 62396315 62396315 G A rs138897700 GANAB Synonymous SNV G588G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 119414 chr4 115997984 115997984 G A NDST4 Nonsynonymous SNV P70L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.481 119415 chr2 27799936 27799936 G T rs180785122 C2orf16 Nonsynonymous SNV G166V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 14.83 119416 chr11 70507837 70507837 C T rs782649751 SHANK2 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 119417 chr4 1208148 1208148 G A rs746419297 CTBP1 Synonymous SNV H292H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.816 119418 chr1 210415141 210415141 G A SERTAD4 Nonsynonymous SNV R177Q 0.003 0 0 0 3 0 0 0 0 0 0 0 28.1 119419 chr11 71193927 71193927 G A rs145532179 NADSYN1 Nonsynonymous SNV V395M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.85 119420 chr11 63671554 63671554 C T rs753542314 MARK2 Synonymous SNV S537S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 119421 chr11 72145301 72145301 C A rs756000250 CLPB Nonsynonymous SNV R73L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.8 119422 chr2 32689683 32689683 C T BIRC6 Nonsynonymous SNV A1683V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 119423 chr4 1347009 1347009 G C rs750609200 UVSSA Nonsynonymous SNV G248R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 119424 chr11 64884178 64884178 G A ZNHIT2 Synonymous SNV T316T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.884 119425 chr11 64990065 64990065 G C SLC22A20P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.36 119426 chr4 146071738 146071738 A G OTUD4 Nonsynonymous SNV S331P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.09 119427 chr11 65325325 65325325 - CAG rs535365850 LTBP3 L35_G36insL 0.009 0.01 0.007 4 10 4 0.01 2 0 0 0 0 119428 chr4 154600726 154600726 G A rs111904753 LOC100419170 0 0 0.01 0 0 0 0 3 0 0 0 0 5.979 119429 chr4 154600749 154600749 C G rs113010211 LOC100419170 0 0 0.01 0 0 0 0 3 0 0 0 0 5.546 119430 chr2 51255033 51255033 T C rs201246306 NRXN1 Nonsynonymous SNV T127A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.551 119431 chr4 156751012 156751012 C T rs142411117 ASIC5 Nonsynonymous SNV C505Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 119432 chr4 158238854 158238854 T C rs1038722611 GRIA2 Synonymous SNV I237I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.046 119433 chr11 101818773 101818773 C G rs762770188 CEP126 Nonsynonymous SNV P136A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.71 119434 chr11 85435335 85435335 C A rs543652083 SYTL2 Nonsynonymous SNV S1689I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.56 119435 chr11 108788640 108788640 A T rs769630710 DDX10 Nonsynonymous SNV D782V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 119436 chr2 61310382 61310382 C T rs140620846 KIAA1841 Nonsynonymous SNV R129C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 119437 chr11 110582885 110582885 C T rs188060195 ARHGAP20 Nonsynonymous SNV V24M 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 20.2 119438 chr4 169049312 169049312 A T rs56253080 ANXA10 Synonymous SNV G32G 0.011 0.018 0.007 4 13 7 0.01 2 0 0 0 0 0.003 119439 chr11 67414380 67414380 G A rs143187416 ACY3 Synonymous SNV S45S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 6.06 119440 chr11 113235684 113235684 G A rs149758557 TTC12 Synonymous SNV L623L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.848 119441 chr11 709566 709566 C T rs746324962 EPS8L2 Nonsynonymous SNV R20W 0.003 0.008 0 0 3 3 0 0 0 0 0 0 33 119442 chr11 71146508 71146508 G A rs139721775 DHCR7 Synonymous SNV D447D 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.348 119443 chr11 113678775 113678775 A G rs756140924 USP28 Synonymous SNV D463D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.04 119444 chr11 113860325 113860325 G A rs369200801 HTR3A Nonsynonymous SNV R458Q 0.003 0 0 0 3 0 0 0 0 0 0 0 31 119445 chr11 71712680 71712680 A T rs5743674 IL18BP Nonsynonymous SNV S197C 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 6.456 119446 chr11 71725144 71725144 T G rs79170800 NUMA1 Nonsynonymous SNV Q1135H 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 17.99 119447 chr11 71726065 71726065 G A rs36029905 NUMA1 Synonymous SNV G828G 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 2.207 119448 chr11 71726122 71726122 T A rs143000254 NUMA1 Nonsynonymous SNV E809D 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 21.7 119449 chr11 9113012 9113014 GCA - SCUBE2 L22del 0.002 0 0 0 2 0 0 0 0 0 0 0 119450 chr2 70504379 70504379 A G rs199723193 PCYOX1 Nonsynonymous SNV N458S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.088 119451 chr11 92523178 92523178 A G rs145486262 FAT3 Nonsynonymous SNV I1469V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.171 119452 chr11 71804714 71804714 C T rs145851613 LRTOMT Synonymous SNV D67D 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.67 119453 chr11 6913285 6913285 C A rs767175612 OR2D2 Nonsynonymous SNV W149C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 32 119454 chr4 17805641 17805641 T C rs191876701 DCAF16 Nonsynonymous SNV M42V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 119455 chr11 93103266 93103266 G C rs530435017 DEUP1 Nonsynonymous SNV D154H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 119456 chr11 116657263 116657263 A G rs200552379 ZPR1 Synonymous SNV A99A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.062 119457 chr4 183959226 183959226 T G rs2016910 FAM92A1P2 0 0 0.02 0 0 0 0 6 0 0 2 0 4.622 119458 chr11 73825610 73825610 C T C2CD3 Nonsynonymous SNV E517K 0.006 0.01 0 0 7 4 0 0 0 0 0 0 13.31 119459 chr11 94731823 94731823 C A KDM4D Synonymous SNV P429P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 119460 chr2 73491614 73491614 C T rs187317553 FBXO41 Nonsynonymous SNV R533Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23 119461 chr2 74729881 74729881 G T rs138587545 LBX2 Nonsynonymous SNV R36S 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 12.21 119462 chr4 187518871 187518871 G A rs2306989 FAT1 Synonymous SNV A4111A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 17.22 119463 chr2 80529706 80529706 A G rs35054232 LRRTM1 Synonymous SNV L413L 0.011 0.01 0.014 0 13 4 0 4 0 0 0 0 0.096 119464 chr11 120097601 120097601 T G rs113497939 OAF Nonsynonymous SNV F148C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 119465 chr4 2831321 2831321 G T rs769244623 SH3BP2 Nonsynonymous SNV G230C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 119466 chr12 7052979 7052979 C T rs115670517 RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.691 119467 chr2 95780861 95780861 G C rs200418387 MRPS5 Nonsynonymous SNV P76R 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 18.8 119468 chr4 3495200 3495200 G C rs373205256 DOK7 Nonsynonymous SNV G186A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 25.5 119469 chr2 97026419 97026419 G T NCAPH Nonsynonymous SNV V384F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.78 119470 chr11 8149802 8149803 AT - rs200468596 RIC3 Star tloss M1? 0.003 0.003 0 0 4 1 0 0 0 0 0 0 119471 chr12 108010952 108010952 T G rs145621368 BTBD11 Synonymous SNV A233A 0.007 0.003 0.014 0 8 1 0 4 0 0 0 0 5.295 119472 chr4 36230820 36230820 A T rs768572139 ARAP2 Nonsynonymous SNV S97T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 119473 chr11 82571138 82571138 T C rs140677570 PRCP Nonsynonymous SNV T64A 0.006 0 0 0 7 0 0 0 0 0 0 0 0.016 119474 chr11 11988635 11988635 C T rs148426562 DKK3 Nonsynonymous SNV R180Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 119475 chr12 109338902 109338902 C A SVOP Nonsynonymous SNV A154S 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 119476 chr12 109692042 109692042 C T rs760891000 ACACB Synonymous SNV I2023I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.05 119477 chr4 39290395 39290395 - TTTTCC rs762581020 RFC1 K1117_S1118insGK 0 0 0.003 0 0 0 0 1 0 0 0 0 119478 chr11 12265652 12265652 C G rs764850451 MICAL2 Nonsynonymous SNV A926G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 119479 chr11 75379236 75379236 G T rs571182244 MAP6 Nonsynonymous SNV P60H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 119480 chr11 124740608 124740608 C G ROBO3 Synonymous SNV G339G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 119481 chr4 40045093 40045093 C A rs17511578 LOC344967 0 0 0.044 0 0 0 0 13 0 0 1 0 10.14 119482 chr11 12348801 12348801 C T rs374013423 MICALCL Stop gain R573X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 119483 chr12 89917485 89917485 C T rs759562519 GALNT4, POC1B-GALNT4 Nonsynonymous SNV R281H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 119484 chr11 92507245 92507245 G T FAT3 Nonsynonymous SNV V1412F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.4 119485 chr11 92564805 92564805 G A rs184114723 FAT3 Nonsynonymous SNV V3167M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23 119486 chr12 91449510 91449510 A G rs145384644 KERA Synonymous SNV F183F 0.003 0 0 0 4 0 0 0 0 0 0 0 0.444 119487 chr12 9265974 9265974 G A rs200324863 A2M Synonymous SNV L84L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.926 119488 chr4 47538911 47538911 G A rs149876632 ATP10D Nonsynonymous SNV R451Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 119489 chr11 9096063 9096063 C T rs777898149 SCUBE2 Nonsynonymous SNV S161N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 119490 chr11 94277612 94277612 C G rs770117607 FUT4 Nonsynonymous SNV R105G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 119491 chr11 92620226 92620226 A G rs765678336 FAT3 Nonsynonymous SNV N4333S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.339 119492 chr11 95724777 95724777 A G MAML2 Synonymous SNV N750N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.127 119493 chr11 93462816 93462816 T C rs925821527 CEP295 Nonsynonymous SNV L2479S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 119494 chr12 113707598 113707598 C T rs147702442 TPCN1 Synonymous SNV F164F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14 119495 chr11 94759863 94759863 G A rs56043170 KDM4E Nonsynonymous SNV C381Y 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 3.746 119496 chr2 121712970 121712970 G A rs147044066 GLI2 Nonsynonymous SNV A78T 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.024 119497 chr12 121004739 121004739 C T rs61760871 RNF10 Nonsynonymous SNV A671V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 12.3 119498 chr11 132204976 132204976 C T rs139579932 NTM Nonsynonymous SNV S324L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 9.865 119499 chr2 128477343 128477343 A C rs772109528 WDR33 Synonymous SNV P752P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.08 119500 chr13 103385654 103385654 G T rs576237706 CCDC168 Nonsynonymous SNV S5798Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.6 119501 chr13 103392113 103392113 C G rs570551230 CCDC168 Nonsynonymous SNV G3645A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.253 119502 chr12 104379508 104379508 - GGAGTTAAGAGGAG TDG 0.02 0.013 0 11 24 5 0.028 0 0 0 0 0 119503 chr11 16847821 16847821 G A PLEKHA7 Synonymous SNV L397L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.091 119504 chr2 133402911 133402911 T G rs750136380 GPR39 Nonsynonymous SNV L365R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 119505 chr12 102046910 102046910 C T rs141026830 MYBPC1 Synonymous SNV L500L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.44 119506 chr2 135756510 135756510 A G rs145950712 MAP3K19 Synonymous SNV N124N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.105 119507 chr12 122967891 122967891 C T rs371895382 ZCCHC8 Synonymous SNV K103K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.96 119508 chr11 18050850 18050850 C T rs147638867 TPH1 Nonsynonymous SNV V177I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.1 119509 chr4 71008910 71008910 C T rs3775758 CSN1S2BP 0 0 0.02 0 0 0 0 6 0 0 2 0 10.65 119510 chr4 72120971 72120971 G A rs370222578 SLC4A4 Synonymous SNV P36P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 11.7 119511 chr12 108912592 108912592 C A rs147612703 FICD Synonymous SNV T239T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 119512 chr12 101748857 101748857 G T rs200353337 UTP20 Synonymous SNV G1785G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 7.267 119513 chr2 153468044 153468044 T C FMNL2 Synonymous SNV H329H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.565 119514 chr11 1651394 1651453 CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG - KRTAP5-5 C132_S151del 0.005 0.003 0 0 6 1 0 0 2 0 0 0 119515 chr13 23912229 23912229 C T SACS Nonsynonymous SNV R1782Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 119516 chr12 108086822 108086822 C T PWP1 Nonsynonymous SNV L89F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.4 119517 chr11 17632279 17632279 C T rs779658224 OTOG Nonsynonymous SNV A1823V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 26.4 119518 chr11 17741451 17741451 G T rs201235770 MYOD1 Nonsynonymous SNV R41L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 32 119519 chr4 81884678 81884678 C T CFAP299 Nonsynonymous SNV P205L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 119520 chr12 112235896 112235896 G A ALDH2 Synonymous SNV Q319Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.22 119521 chr12 112696344 112696344 C A rs749138249 HECTD4 Synonymous SNV P1028P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 119522 chr11 18738286 18738286 A G IGSF22 Nonsynonymous SNV L412P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 119523 chr12 120208679 120208679 T C rs56003249 CIT Synonymous SNV R706R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 3.342 119524 chr12 113754427 113754427 C T SLC8B1 Synonymous SNV E243E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 119525 chr11 30352642 30352642 A G rs371036775 ARL14EP Synonymous SNV T49T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.41 119526 chr4 861144 861144 G A rs759764270 GAK Synonymous SNV D745D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.232 119527 chr4 88099706 88099706 G C KLHL8 Nonsynonymous SNV S157C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 119528 chr12 112182692 112182692 A G rs149610201 ACAD10 Nonsynonymous SNV I654V 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.008 119529 chr4 88537035 88537035 A G rs202210195 DSPP Nonsynonymous SNV D1074G 0 0 0.058 0 0 0 0 17 0 0 3 0 Benign 8.446 119530 chr4 88537114 88537114 C T rs369973717 DSPP Synonymous SNV S1100S 0 0 0.037 0 0 0 0 11 0 0 5 0 11.75 119531 chr11 33123877 33123877 C T rs34542593 CSTF3 Synonymous SNV E224E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.95 119532 chr13 41373216 41373216 G A rs104894430 SLC25A15 Nonsynonymous SNV G27R 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 26.9 119533 chr11 33689547 33689547 C G rs755032134 KIAA1549L Synonymous SNV P2096P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.51 119534 chr4 88977351 88977351 G A rs144968710 PKD2 Synonymous SNV A610A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.81 119535 chr11 34154579 34154579 C T rs139767479 NAT10 Nonsynonymous SNV P470S 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 32 119536 chr12 113714768 113714768 C G rs775430308 TPCN1 Synonymous SNV R261R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 13.38 119537 chr11 35456085 35456085 T A rs138978009 PAMR1 Nonsynonymous SNV D423V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 25.4 119538 chr12 123970319 123970319 C A RILPL1 Nonsynonymous SNV A279S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.905 119539 chr12 124228409 124228409 C G rs773883509 ATP6V0A2 Synonymous SNV T372T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.927 119540 chr12 124233294 124233294 T A ATP6V0A2 Nonsynonymous SNV F633I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.5 119541 chr5 102488427 102488427 A T rs782655930 PPIP5K2 Synonymous SNV P368P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.785 119542 chr12 122617904 122617904 C T rs754143628 MLXIP Synonymous SNV L368L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 8.488 119543 chr12 125263039 125263039 C T rs701103 SCARB1 Nonsynonymous SNV G433R 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 7.941 119544 chr12 2968748 2968748 A G rs28919868 FOXM1 Nonsynonymous SNV F435L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.993 119545 chr12 125435061 125435061 G C rs144251258 DHX37 Nonsynonymous SNV L1007V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 24.7 119546 chr12 123434445 123434445 C T rs749884005 ABCB9 Nonsynonymous SNV R246Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 119547 chr5 112174297 112174297 C T rs72541810 APC Synonymous SNV A984A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.84 119548 chr11 33053040 33053040 A G rs748304676 DEPDC7 Nonsynonymous SNV E300G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.71 119549 chr13 58207457 58207457 T C rs78775624 PCDH17 Synonymous SNV G259G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.027 119550 chr12 124297780 124297780 G C rs146033482 DNAH10 Nonsynonymous SNV V954L 0.003 0.013 0 0 3 5 0 0 0 0 0 0 1.12 119551 chr11 33163162 33163163 AC - CSTF3 Stop gain C92* 0 0.005 0 0 0 2 0 0 0 0 0 0 119552 chr11 33370147 33370147 G A rs755288665 HIPK3 Nonsynonymous SNV E796K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.55 119553 chr12 129558420 129558420 T C TMEM132D Synonymous SNV X1100X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.751 119554 chr12 124839414 124839414 C A rs61746414 NCOR2 Synonymous SNV G1141G 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 20.2 119555 chr12 124886983 124886983 G A rs200279477 NCOR2 Nonsynonymous SNV P535L 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 22.8 119556 chr5 118264366 118264366 C T rs145178816 DTWD2 Nonsynonymous SNV A89T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.8 119557 chr13 77574779 77574779 A G rs777477178 CLN5 Nonsynonymous SNV N251S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.315 119558 chr5 118470071 118470071 A G DMXL1 Nonsynonymous SNV N788S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.938 119559 chr12 125441341 125441341 G C rs377327632 DHX37 Synonymous SNV R783R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 5.537 119560 chr11 3681258 3681258 G C rs141732093 ART1 Nonsynonymous SNV R170P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.14 119561 chr5 1235744 1235744 G A rs76827400 SLC6A18 Nonsynonymous SNV M196I 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 8.886 119562 chr12 133219478 133219478 G A POLE Synonymous SNV T1552T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 8.038 119563 chr11 47758231 47758231 T C rs372448684 FNBP4 Synonymous SNV E508E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.734 119564 chr11 43913598 43913598 T C rs766048497 ALKBH3 Synonymous SNV T126T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.775 119565 chr5 1272311 1272311 C T rs141425941 TERT Nonsynonymous SNV V791I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 11.91 119566 chr12 132241162 132241162 A G rs145713017 SFSWAP Nonsynonymous SNV T565A 0.014 0.005 0.01 4 17 2 0.01 3 0 0 0 0 0.002 119567 chr12 132551493 132551493 G A rs199707864 EP400 Nonsynonymous SNV G2910S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.7 119568 chr5 131931387 131931387 A G rs781213977 RAD50 Nonsynonymous SNV I698V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.79 119569 chr11 46400630 46400630 C T DGKZ Synonymous SNV S813S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.943 119570 chr12 133214662 133214662 G A rs778941198 POLE Synonymous SNV I1872I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 16.53 119571 chr12 132633439 132633439 C T rs76660892 NOC4L Synonymous SNV L300L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.686 119572 chr12 49993496 49993496 G T rs368859212 FAM186B Synonymous SNV R643R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.578 119573 chr14 104638084 104638084 C T rs1019550351 KIF26A Nonsynonymous SNV P380S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 119574 chr5 137676912 137676912 C T rs41300793 FAM53C Synonymous SNV L3L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 20.4 119575 chr5 139574169 139574169 G T rs374326696 CYSTM1 Nonsynonymous SNV G40V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 119576 chr12 29617658 29617658 A T rs73069520 OVCH1-AS1 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 1.161 119577 chr5 140182471 140182471 G A rs141385563 PCDHA3 Synonymous SNV P563P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.96 119578 chr14 20837560 20837560 A T rs1049753848 TEP1 Nonsynonymous SNV S2425R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 119579 chr2 209045486 209045486 C T rs760055566 C2orf80 Nonsynonymous SNV D117N 0.004 0.005 0 0 5 2 0 0 0 0 0 0 3.264 119580 chr12 52761153 52761153 C G rs140664015 KRT85 Nonsynonymous SNV G13R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 18.71 119581 chr12 21422680 21422680 C T rs772790612 SLCO1A2 Synonymous SNV P605P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 119582 chr5 140953548 140953548 C T DIAPH1 Synonymous SNV G614G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 119583 chr2 216214269 216214269 C T rs76436141 ATIC Nonsynonymous SNV A557V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 24.4 119584 chr12 26275452 26275452 G C rs564239022 BHLHE41 Synonymous SNV G332G 0.006 0 0 1 7 0 0.003 0 1 0 0 0 10.46 119585 chr12 31820736 31820736 C T ETFBKMT Stop gain Q201X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 35 119586 chr5 149109969 149109969 C T rs772855379 PPARGC1B Nonsynonymous SNV L22F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 119587 chr11 4945452 4945452 C T rs138271821 OR51G1 Nonsynonymous SNV V40I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.95 119588 chr11 5510599 5510599 T C rs771059134 OR52D1 Synonymous SNV Y221Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 119589 chr12 49431168 49431168 C A rs201050032 KMT2D Nonsynonymous SNV G3324V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.4 119590 chr2 220346104 220346104 C T rs200268589 SPEG Synonymous SNV F1816F 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 18.29 119591 chr14 24573006 24573006 G A rs61737098 PCK2 Nonsynonymous SNV G452S 0.012 0.005 0.017 2 14 2 0.005 5 0 0 0 0 Uncertain significance 32 119592 chr12 57032900 57032900 C A rs145015204 ATP5F1B Nonsynonymous SNV Q493H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 22.8 119593 chr5 150924339 150924339 G T FAT2 Synonymous SNV R2117R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.17 119594 chr11 55563608 55563608 G C rs144571267 OR5D14 Nonsynonymous SNV D193H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 119595 chr14 24601419 24601419 G A FITM1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 119596 chr12 50283920 50283920 G A FAIM2 Synonymous SNV Y181Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.706 119597 chr12 50529595 50529595 C A rs764994396 CERS5 Nonsynonymous SNV K264N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.8 119598 chr12 57578867 57578867 T A LRP1 Synonymous SNV T2114T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.695 119599 chr14 24901549 24901549 C T KHNYN Nonsynonymous SNV P402L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.735 119600 chr5 155935631 155935631 G A rs74846539 SGCD Synonymous SNV R70R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.37 119601 chr12 60173363 60173363 A T rs78708164 SLC16A7 Nonsynonymous SNV E447V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.95 119602 chr11 551229 551229 C T rs201646765 LRRC56 Synonymous SNV A241A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.362 119603 chr12 49412531 49412531 G A rs370096933 DDN-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.812 119604 chr5 156946997 156946997 C T rs199504348 ADAM19 Synonymous SNV E150E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 119605 chr5 156957847 156957847 G A ADAM19 Synonymous SNV S125S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 119606 chr12 64174904 64174904 C T rs73122634 RXYLT1 Nonsynonymous SNV T92M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.91 119607 chr5 160029660 160029660 T C ATP10B Nonsynonymous SNV K1096R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 119608 chr5 161116267 161116267 A G rs781456872 GABRA6 Nonsynonymous SNV I152V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 119609 chr2 231328813 231328813 T C rs140194556 SP100 Synonymous SNV N338N 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.022 119610 chr12 662979 662979 G A rs200374878 B4GALNT3 Synonymous SNV P630P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 119611 chr12 49390856 49390856 C T DDN Synonymous SNV A601A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 119612 chr12 51281119 51281119 C T rs767272191 TMPRSS12 Synonymous SNV Y290Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 4.56 119613 chr12 52799999 52799999 C T rs558524531 KRT82 Synonymous SNV S21S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.2 119614 chr2 238247712 238247712 C G COL6A3 Nonsynonymous SNV W2231S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.1 119615 chr2 219920292 219920292 C T rs149554120 IHH Synonymous SNV R291R 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign/Likely benign 13.01 119616 chr2 220043149 220043149 T C rs371709720 RETREG2 Synonymous SNV G25G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.566 119617 chr12 76791488 76791488 T C rs750040418 OSBPL8 Nonsynonymous SNV I195V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 119618 chr11 56185291 56185291 C G OR5R1 Nonsynonymous SNV V140L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.18 119619 chr5 178417745 178417745 C T rs879403706 GRM6 Nonsynonymous SNV R287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 119620 chr12 53452938 53452938 C G rs755492418 TNS2 Nonsynonymous SNV P515A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 119621 chr12 55886196 55886196 T C rs117985155 OR6C68 Nonsynonymous SNV L12P 0.011 0.016 0.007 1 13 6 0.003 2 0 1 0 0 24 119622 chr2 220439623 220439623 C T rs758170478 INHA Nonsynonymous SNV P159L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.072 119623 chr12 56077599 56077599 A T rs73117273 METTL7B Synonymous SNV G167G 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 Benign 10.72 119624 chr2 223507646 223507646 T A rs757113549 FARSB Nonsynonymous SNV I65F 0 0 0 1 0 0 0.003 0 0 0 0 0 31 119625 chr12 9004394 9004394 A C rs200618482 A2ML1 Nonsynonymous SNV E259A 0.002 0.01 0.003 4 2 4 0.01 1 0 0 0 0 Benign/Likely benign 7.537 119626 chr12 55715097 55715097 A G rs140573862 OR6C1 Synonymous SNV T238T 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 1.78 119627 chr5 32087256 32087256 C T rs143118363 PDZD2 Synonymous SNV D1234D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.433 119628 chr12 9222358 9222358 A G A2M Synonymous SNV L1266L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.83 119629 chr12 55863581 55863581 A C OR6C70 Synonymous SNV A114A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 119630 chr5 32710867 32710867 G A rs570108537 NPR3 Synonymous SNV R33R 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 9.908 119631 chr5 34954770 34954770 A G rs35999194 DNAJC21 Nonsynonymous SNV N516S 0.008 0.003 0.014 3 9 1 0.008 4 1 0 0 0 0.139 119632 chr12 58015483 58015483 C T rs146304453 SLC26A10 Nonsynonymous SNV S189F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 119633 chr3 6903250 6903250 G C GRM7 Nonsynonymous SNV A59P 0.007 0.003 0 0 8 1 0 0 0 0 0 0 24 119634 chr12 58131052 58131052 C G rs542194963 AGAP2 Synonymous SNV P326P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.577 119635 chr2 170063677 170063677 G A rs143884041 LRP2 Nonsynonymous SNV L2185F 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 119636 chr5 37358184 37358184 T G rs767742780 NUP155 Synonymous SNV A154A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.197 119637 chr2 234368935 234368935 G A rs147134923 DGKD Synonymous SNV E931E 0.006 0.003 0.014 6 7 1 0.015 4 0 0 0 0 Conflicting interpretations of pathogenicity 9.941 119638 chr11 5878875 5878875 G C rs368037682 OR52E8 Nonsynonymous SNV L20V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 119639 chr2 171806099 171806099 G A rs199770683 GORASP2 Synonymous SNV K65K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.2 119640 chr2 171822387 171822387 C T rs201315718 GORASP2 Nonsynonymous SNV P301L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 119641 chr14 74205722 74205722 G T ELMSAN1 Synonymous SNV A330A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.111 119642 chr2 174062743 174062743 T G rs759704930 MAP3K20-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.408 119643 chr11 59190211 59190211 G A rs151044012 OR5A2 Synonymous SNV I72I 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 11.81 119644 chr13 101167797 101167797 C A rs773033856 PCCA Synonymous SNV A598A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 119645 chr2 234719500 234719500 A G MROH2A Nonsynonymous SNV N837D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 119646 chr12 59266599 59266599 C T rs767828889 LRIG3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 119647 chr2 179419452 179419452 A G rs768292510 TTN Nonsynonymous SNV I20476T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.1 119648 chr5 5461619 5461619 A G rs72646681 ICE1 Synonymous SNV E724E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.6 119649 chr13 108861862 108861866 TCTTA - rs770128720 LIG4 I584Rfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 119650 chr12 57619187 57619187 - GGC rs200994523 NXPH4 A200_G201insA 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 119651 chr12 57922164 57922164 G C rs151328496 MBD6 Nonsynonymous SNV G881R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25.7 119652 chr5 63621066 63621066 G A rs111583002 RNF180 Synonymous SNV K427K 0.003 0.01 0.007 2 3 4 0.005 2 0 0 0 0 11.14 119653 chr5 64925512 64925512 G A rs746062019 SHLD3 Nonsynonymous SNV R33H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 119654 chr11 61105512 61105512 C T rs766866933 TKFC Nonsynonymous SNV R35C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 119655 chr3 19575192 19575192 T C rs140437874 KCNH8 Synonymous SNV A975A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.163 119656 chr3 20027251 20027251 G A rs76997204 PP2D1 Nonsynonymous SNV T505I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.328 119657 chr2 241696844 241696846 TCC - KIF1A E917del 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 119658 chr5 67589206 67589206 C T rs755664296 PIK3R1 Synonymous SNV F35F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 119659 chr2 189898907 189898907 T C rs146100075 COL5A2 Synonymous SNV E1463E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 0.782 119660 chr13 114059512 114059512 G A rs546356323 LOC101928841 Nonsynonymous SNV T998M 0.004 0 0 0 5 0 0 0 0 0 0 0 2.177 119661 chr13 114839285 114839285 G A rs750827462 RASA3 Nonsynonymous SNV P28L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 119662 chr14 91701281 91701281 G A rs184986403 GPR68 Synonymous SNV A38A 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 6.912 119663 chr2 242149775 242149775 G A rs141796681 ANO7 Synonymous SNV V475V 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 10.05 119664 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*71 0.012 0.003 0.003 3 14 1 0.008 1 0 0 0 0 119665 chr13 20635217 20635217 G C ZMYM2 Nonsynonymous SNV A922P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 119666 chr12 80878258 80878258 G A rs185755490 PTPRQ Synonymous SNV T239T 0.003 0.005 0.01 1 3 2 0.003 3 0 0 1 0 Benign 11.27 119667 chr13 21562309 21562309 C T rs200369113 LATS2 Nonsynonymous SNV C537Y 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 23.4 119668 chr13 24380163 24380163 G A rs115309858 MIPEP Synonymous SNV L592L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 10.79 119669 chr3 8590440 8590440 G A rs767714444 LMCD1 Nonsynonymous SNV E119K 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 119670 chr13 25399903 25399903 A G RNF17 Synonymous SNV K746K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.282 119671 chr14 95080814 95080814 C T rs79181968 SERPINA3 Synonymous SNV L12L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 10.19 119672 chr3 42251580 42251580 - GGAGGAGGA TRAK1 E624_G625insEEE 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 119673 chr13 31287872 31287872 T - rs775943775 ALOX5AP F4Lfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 119674 chr13 31287877 31287877 T A rs759720554 ALOX5AP Nonsynonymous SNV N5K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.801 119675 chr11 64662838 64662838 G A rs370496305 ATG2A Nonsynonymous SNV A1827V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 119676 chr5 81608563 81608563 T C rs61740965 ATP6AP1L Nonsynonymous SNV Y89H 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 26.8 119677 chr11 640174 640174 A G rs781463894 DRD4 Nonsynonymous SNV N309D 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.002 119678 chr3 13367357 13367357 G A rs113734634 NUP210 Nonsynonymous SNV R1528W 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 23.6 119679 chr11 65347618 65347618 G A rs374768138 EHBP1L1 Nonsynonymous SNV V127M 0.001 0 0 0 1 0 0 0 0 0 0 0 28 119680 chr11 65381154 65381154 C G rs750295922 MAP3K11 Nonsynonymous SNV G25A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 119681 chr15 23889919 23889919 C T rs372805925 MAGEL2 Nonsynonymous SNV V991I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.729 119682 chr13 45589633 45589633 G T rs140588373 GPALPP1 Nonsynonymous SNV G203C 0.01 0.005 0.003 2 12 2 0.005 1 0 0 0 0 33 119683 chr6 100368893 100368893 G A rs770305974 MCHR2 Nonsynonymous SNV R316C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 119684 chr13 47303110 47303110 A G rs528296543 LRCH1 Synonymous SNV S631S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.467 119685 chr15 33446748 33446748 G A rs61733781 FMN1 Nonsynonymous SNV S123F 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 22.9 119686 chr13 48986518 48986518 G A rs148227482 LPAR6 Synonymous SNV S14S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.322 119687 chr15 35083378 35083378 A G rs2307493 ACTC1 Synonymous SNV P309P 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign/Likely benign 8.423 119688 chr13 51915255 51915255 C G rs775407364 SERPINE3 Nonsynonymous SNV L10V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 119689 chr11 67219264 67219264 G A rs200565832 GPR152 Nonsynonymous SNV S311L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 119690 chr12 95867986 95867986 G C rs199661494 METAP2 Nonsynonymous SNV G11R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.1 119691 chr11 67225864 67225864 G A rs200848734 CABP4 Nonsynonymous SNV R120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.55 119692 chr13 52518382 52518382 C T rs761147984 ATP7B Nonsynonymous SNV V829I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.4 119693 chr6 109906330 109906332 CTT - rs141134529 AK9 E703del 0.007 0.016 0.01 11 8 6 0.028 3 4 3 1 5 119694 chr6 11190215 11190215 G A rs35719173 NEDD9 Synonymous SNV Y480Y 0.017 0.018 0.01 4 20 7 0.01 3 0 0 0 0 5.3 119695 chr3 49200298 49200298 G A rs113754979 CCDC71 Synonymous SNV L448L 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 0.081 119696 chr6 114265517 114265517 T G rs184982628 HDAC2 Nonsynonymous SNV Q383H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 119697 chr15 41228843 41228843 G A rs375688749 DLL4 Nonsynonymous SNV R553Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 119698 chr13 77779657 77779657 T C rs769237067 MYCBP2 Synonymous SNV V1222V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.894 119699 chr11 66045948 66045948 G A rs146937207 CNIH2 Synonymous SNV A7A 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 Benign 16.32 119700 chr11 69949219 69949219 C T rs369108450 ANO1 Synonymous SNV N163N 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 12.99 119701 chr3 49830017 49830017 G A rs375152797 CDHR4 Synonymous SNV L674L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.44 119702 chr15 42041404 42041404 G A rs754889992 MGA Nonsynonymous SNV V1658I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 119703 chr13 99908101 99908101 T G GPR18 Nonsynonymous SNV Q9P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.265 119704 chr13 28143185 28143185 C A rs35560528 LNX2 Nonsynonymous SNV E212D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 119705 chr13 111109325 111109325 C G rs56160019 COL4A2-AS2 Nonsynonymous SNV M249I 0.009 0.016 0 7 10 6 0.018 0 0 0 0 0 2.114 119706 chr13 111109331 111109331 C G rs28576470 COL4A2-AS2 Nonsynonymous SNV Q247H 0.006 0.005 0 7 7 2 0.018 0 0 0 0 0 4.168 119707 chr15 43661145 43661145 T G rs760518253 ZSCAN29 Nonsynonymous SNV K167Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 119708 chr11 74617378 74617378 T C rs200854594 XRRA1 Synonymous SNV Q62Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 119709 chr6 130505612 130505612 G A rs141349203 SAMD3 Synonymous SNV A204A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 119710 chr15 44066522 44066522 T A ELL3 Nonsynonymous SNV Q299L 0.003 0 0 0 3 0 0 0 0 0 0 0 28.4 119711 chr15 44673110 44673110 T G CASC4 Nonsynonymous SNV I336M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 119712 chr15 44849829 44849829 T C rs761460575 EIF3J Synonymous SNV V135V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.782 119713 chr3 57269629 57269629 C T APPL1 Synonymous SNV A30A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 119714 chr11 69488039 69488039 C A rs145159179 LTO1 Nonsynonymous SNV G34V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.1 119715 chr11 6964356 6964356 G A rs767550352 ZNF215 Nonsynonymous SNV E176K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 119716 chr6 135250236 135250236 G A rs56825243 ALDH8A1 Synonymous SNV L273L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.538 119717 chr6 14135394 14135394 G A rs2230193 CD83 Nonsynonymous SNV R181Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 13.16 119718 chr11 800630 800630 G A rs147896191 PIDD1 Nonsynonymous SNV R652W 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 26.4 119719 chr11 72438018 72438018 T C rs781418783 ARAP1 Synonymous SNV L52L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.017 119720 chr3 96706286 96706286 G A rs763947048 EPHA6 Nonsynonymous SNV R188H 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 33 119721 chr15 52556426 52556426 C T rs180901348 MYO5C Synonymous SNV V336V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 14.45 119722 chr2 240912968 240912988 ACGATCAGCTTCAAGGAGGGA - rs746493358 NDUFA10 S364_R370del 0.002 0 0.007 0 2 0 0 2 0 0 0 0 119723 chr2 240960670 240960670 A G rs140776586 NDUFA10 Nonsynonymous SNV L135S 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 119724 chr15 52664324 52664324 C T rs190656197 MYO5A Synonymous SNV E938E 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign/Likely benign 14.6 119725 chr13 48611891 48611891 C T rs774058908 NUDT15 Synonymous SNV A3A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13 119726 chr2 241664801 241664801 C T rs2241683 KIF1A Synonymous SNV P1280P 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 13.98 119727 chr3 98518429 98518429 C T rs141432727 DCBLD2 Synonymous SNV G705G 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 11.35 119728 chr3 100585792 100585792 C T rs113364496 ABI3BP Nonsynonymous SNV E314K 0.017 0.01 0.003 6 20 4 0.015 1 0 0 0 0 23.2 119729 chr11 773630 773630 C T GATD1 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 119730 chr14 21488735 21488735 G A NDRG2 Nonsynonymous SNV H155Y 0.002 0 0 0 2 0 0 0 0 0 0 0 18.42 119731 chr13 95858953 95858953 C T rs377022090 ABCC4 Nonsynonymous SNV V257M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.9 119732 chr3 111921109 111921109 T C rs112343617 SLC9C1 Synonymous SNV K722K 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 Benign 0.334 119733 chr14 21561300 21561300 T C rs11848574 ZNF219 Synonymous SNV A52A 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 0.503 119734 chr14 21623837 21623837 G A rs150580198 OR5AU1 Synonymous SNV S65S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.49 119735 chr3 52833052 52833052 A G ITIH3 Nonsynonymous SNV N245S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 119736 chr3 112063925 112063925 A G rs759987567 CD200 Nonsynonymous SNV S71G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.381 119737 chr6 159654194 159654194 C T rs148688806 FNDC1 Nonsynonymous SNV P884S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 119738 chr6 160888021 160888021 G T rs62441868 LPAL2 0 0 0.048 0 0 0 0 14 0 0 2 0 8.225 119739 chr13 99478176 99478176 G A rs62637595 DOCK9 Nonsynonymous SNV P1681L 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 9.817 119740 chr3 113699534 113699534 C T rs200521026 CCDC191 Stop gain W735X 0.002 0.008 0 0 2 3 0 0 0 0 0 0 45 119741 chr6 161152085 161152085 G A rs139071351 PLG Nonsynonymous SNV G420D 0.009 0.016 0.01 1 11 6 0.003 3 0 0 0 0 Benign 0.021 119742 chr14 24002889 24002889 G A ZFHX2 Nonsynonymous SNV P549L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 119743 chr6 16290837 16290837 G T rs371734266 GMPR Nonsynonymous SNV G281V 0 0 0.007 0 0 0 0 2 0 0 0 0 28 119744 chr11 88027252 88027252 G A rs143736590 CTSC Synonymous SNV Y438Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.882 119745 chr14 100792537 100792537 G A rs139570576 SLC25A47 Nonsynonymous SNV C39Y 0.003 0 0 3 3 0 0.008 0 0 0 0 0 25.8 119746 chr14 100795321 100795321 - A SLC25A47 Stop gain Y50* 0.003 0 0 3 3 0 0.008 0 0 0 0 0 119747 chr3 12857959 12857959 G A rs201773087 CAND2 Nonsynonymous SNV E417K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.8 119748 chr6 167411298 167411301 TGTG - MIR3939 0 0 0.014 0 0 0 0 4 0 0 0 0 119749 chr6 167411301 167411301 - CACA MIR3939 0 0 0.02 0 0 0 0 6 0 0 1 0 119750 chr11 92525947 92525947 G A FAT3 Synonymous SNV E1542E 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 10.45 119751 chr14 105334799 105334799 G A rs183217990 CEP170B Synonymous SNV T4T 0.011 0.01 0 11 13 4 0.028 0 0 0 0 0 12.12 119752 chr15 74277666 74277666 C T rs34353835 STOML1 Synonymous SNV P211P 0.011 0.013 0.007 0 13 5 0 2 0 0 0 0 6.964 119753 chr6 168442775 168442775 C A rs138311357 KIF25 Nonsynonymous SNV A258E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 119754 chr12 104489151 104489151 A C rs747780119 HCFC2 Synonymous SNV S492S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.964 119755 chr6 168720067 168720067 C T DACT2 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 119756 chr11 93488374 93488374 A C C11orf54 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 119757 chr14 105609161 105609161 G A rs61750260 JAG2 Synonymous SNV F1158F 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 1.059 119758 chr6 170627222 170627222 G A rs61733631 FAM120B Synonymous SNV S260S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.784 119759 chr14 105612169 105612169 C T rs145737381 JAG2 Nonsynonymous SNV A913T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 0.003 119760 chr6 170871055 170871061 GCAGCAG - TBP Q57Hfs*65 0.008 0.013 0.007 0 9 5 0 2 0 0 0 0 119761 chr14 31420120 31420120 G A STRN3 Nonsynonymous SNV A164V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 21.9 119762 chr15 75653996 75653996 G C rs141487118 MAN2C1 Nonsynonymous SNV I290M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 119763 chr14 104573576 104573576 C T rs748461343 ASPG Nonsynonymous SNV R443W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 119764 chr14 105960242 105960242 T C rs80086621 TEDC1 Nonsynonymous SNV M219T 0.009 0.003 0.003 2 10 1 0.005 1 1 0 0 0 10.6 119765 chr12 106890641 106890641 G A rs199545845 POLR3B Nonsynonymous SNV V919I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 15.91 119766 chr6 17706554 17706554 T A rs749482201 NUP153 Nonsynonymous SNV H22L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 119767 chr14 105167981 105167981 C T rs199769315 INF2 Synonymous SNV S93S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.796 119768 chr15 77425788 77425788 A G PEAK1 Synonymous SNV I1212I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 119769 chr3 123376245 123376245 C A rs749921840 MYLK Nonsynonymous SNV C1163F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.1 119770 chr12 108918172 108918172 G A rs554372371 SART3 Nonsynonymous SNV P879S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 32 119771 chr14 37050642 37050642 C G rs61755040 NKX2-8 Nonsynonymous SNV S62T 0.017 0.008 0.014 6 20 3 0.015 4 0 0 1 0 22.1 119772 chr3 33155683 33155683 G T rs746788797 CRTAP Synonymous SNV R38R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.541 119773 chr14 105460960 105460961 AG - rs768988926 CLBA1 Q281Rfs*40 0.001 0 0 2 1 0 0.005 0 0 0 0 0 119774 chr12 102542005 102542007 CAG - rs538702845 PARPBP 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 119775 chr12 10342732 10342732 G T rs758944620 TMEM52B Nonsynonymous SNV W162L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.209 119776 chr6 28185726 28185726 C T rs1233664 TOB2P1 0 0 0.007 0 0 0 0 2 0 0 1 0 7.534 119777 chr6 32628301 32628301 T A rs9273498 HLA-DQB1-AS1 0 0 0.061 0 0 0 0 18 0 0 9 0 1.834 119778 chr12 113759137 113759137 C G SLC8B1 Nonsynonymous SNV G58A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.53 119779 chr15 86266411 86266411 A G rs147012053 AKAP13 Nonsynonymous SNV N823S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.835 119780 chr12 114362546 114362546 C A rs771957255 RBM19 Nonsynonymous SNV G754V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 27.2 119781 chr12 10978851 10978851 T C rs199818784 TAS2R10 Synonymous SNV E6E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.006 119782 chr14 21869100 21869100 T A rs199879706 CHD8 Nonsynonymous SNV H1435L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.45 119783 chr15 89169705 89169705 G A rs149883792 AEN Nonsynonymous SNV G89S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12.44 119784 chr3 137787041 137787041 C T rs115489792 DZIP1L Nonsynonymous SNV G595E 0.01 0.018 0.01 3 12 7 0.008 3 0 0 0 0 15.35 119785 chr12 111020739 111020739 - CGC rs35409332 PPTC7 G32_D33insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 119786 chr12 121093915 121093915 C A rs766135094 CABP1 Nonsynonymous SNV T22N 0.002 0 0 0 2 0 0 0 0 0 0 0 19.14 119787 chr14 23242924 23242924 C T rs201993411 SLC7A7 Synonymous SNV G477G 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 Likely benign 0.967 119788 chr12 121593936 121593936 C T rs28360445 P2RX7 Nonsynonymous SNV R117W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 119789 chr3 46495837 46495837 C T LTF Nonsynonymous SNV G177R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 119790 chr3 148714649 148714649 A G rs140175164 GYG1 Nonsynonymous SNV N147D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 17.12 119791 chr3 148896287 148896287 T C rs34987997 CP Synonymous SNV L931L 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.421 119792 chr6 39047467 39047467 A G rs773168576 GLP1R Nonsynonymous SNV T391A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 119793 chr6 39082777 39082777 G T rs777420505 SAYSD1 Nonsynonymous SNV T30N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.108 119794 chr14 24600828 24600828 C T rs147792464 FITM1 Nonsynonymous SNV A19V 0.015 0.01 0 3 18 4 0.008 0 0 0 0 0 18.22 119795 chr3 149040061 149040061 G A rs112912432 TM4SF18 Synonymous SNV S191S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.662 119796 chr3 149048159 149048161 GTT - TM4SF18 N75del 0 0.003 0 0 0 1 0 0 0 0 0 0 119797 chr12 122657189 122657189 G A rs201415000 IL31 Nonsynonymous SNV R89W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 119798 chr14 24684777 24684777 G A rs140361770 MDP1, NEDD8-MDP1 Nonsynonymous SNV P64S 0.009 0.013 0.007 8 11 5 0.021 2 0 0 0 0 19.24 119799 chr6 41000805 41000805 A G UNC5CL Nonsynonymous SNV L256P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 119800 chr12 124081156 124081156 C T rs549011998 TMED2 Synonymous SNV N162N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.25 119801 chr12 124101073 124101073 C T rs371557116 DDX55 Synonymous SNV C324C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 14.34 119802 chr3 47889732 47889732 G A rs756574609 DHX30 Synonymous SNV A783A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.256 119803 chr14 31425444 31425444 C T rs200133118 STRN3 Nonsynonymous SNV R96Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 119804 chr14 31792910 31792910 A G rs542960031 HEATR5A Synonymous SNV H1216H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.09 119805 chr12 118517278 118517278 G A rs371816744 VSIG10 Synonymous SNV I266I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.12 119806 chr14 31819145 31819145 A G rs61754287 HEATR5A Nonsynonymous SNV M853T 0.006 0.003 0.017 5 7 1 0.013 5 0 0 0 0 23.1 119807 chr3 48716390 48716390 T C rs370157632 NCKIPSD Nonsynonymous SNV N571S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 119808 chr14 33291583 33291583 G A rs34711402 AKAP6 Nonsynonymous SNV V1522I 0.008 0.01 0.034 3 9 4 0.008 10 0 0 1 0 20.1 119809 chr14 35228041 35228041 C A BAZ1A Nonsynonymous SNV V1387L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 119810 chr14 73727448 73727448 G A rs59350887 PAPLN Nonsynonymous SNV A673T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25 119811 chr14 73989445 73989445 T A rs114510558 HEATR4 Nonsynonymous SNV T138S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 119812 chr14 50074291 50074291 T G rs763415986 LRR1 Nonsynonymous SNV F152L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 119813 chr12 130926559 130926559 G A rs140257980 RIMBP2 Synonymous SNV F429F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.736 119814 chr6 44200105 44200105 T C rs8187633 SLC29A1 Synonymous SNV C375C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.098 119815 chr14 50579361 50579361 T C VCPKMT Nonsynonymous SNV H216R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.66 119816 chr12 132400949 132400949 C T rs372595025 ULK1 Nonsynonymous SNV P629S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.625 119817 chr6 46661479 46661479 G T rs142413497 TDRD6 Nonsynonymous SNV V1872L 0.014 0.01 0.02 8 16 4 0.021 6 0 0 0 1 Likely benign 0.155 119818 chr12 132626452 132626452 G A rs111718326 DDX51 Nonsynonymous SNV S313F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.37 119819 chr3 51863712 51863712 G T rs201305590 IQCF3 Nonsynonymous SNV R17I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.023 119820 chr14 75535913 75535913 C T ACYP1 Nonsynonymous SNV G28S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 119821 chr14 51387721 51387721 A G rs764496790 PYGL Nonsynonymous SNV M208T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 119822 chr3 52381870 52381870 C T rs376991251 DNAH1 Synonymous SNV D662D 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 Benign 13.42 119823 chr3 183029446 183029446 T C rs149727195 MCF2L2 Nonsynonymous SNV T290A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.73 119824 chr3 183490285 183490285 G A rs201914129 YEATS2 Nonsynonymous SNV V714M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 119825 chr6 50011449 50011449 A G rs114426154 DEFB112 Nonsynonymous SNV C42R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 119826 chr12 124184348 124184348 G A rs758476452 TCTN2 Nonsynonymous SNV E534K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.6 119827 chr14 55168799 55168799 A T SAMD4A Nonsynonymous SNV Q72H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.89 119828 chr14 56105908 56105908 C T rs80214241 KTN1 Synonymous SNV S597S 0.007 0.005 0.014 3 8 2 0.008 4 0 0 0 1 Benign 19.1 119829 chr6 56357791 56357791 C A DST Nonsynonymous SNV V4208L 0 0 0.003 0 0 0 0 1 0 0 0 0 22 119830 chr16 1576628 1576628 C T rs200876696 IFT140 Nonsynonymous SNV G857S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 33 119831 chr6 56481130 56481130 C T rs140192373 DST Nonsynonymous SNV A2379T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 11.21 119832 chr12 130184969 130184969 T C rs147628512 TMEM132D Synonymous SNV G118G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 0.022 119833 chr14 62547748 62547748 G A rs147653034 SYT16 Nonsynonymous SNV G216D 0.003 0.008 0.01 8 3 3 0.021 3 0 0 0 0 14.43 119834 chr3 58139239 58139239 G A rs202238767 FLNB Nonsynonymous SNV V2145I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 119835 chr14 60591530 60591530 T C PCNX4 Synonymous SNV L647L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.012 119836 chr12 132394378 132394378 C T rs145451295 ULK1 Nonsynonymous SNV T242I 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 2.999 119837 chr3 189607208 189607208 C T rs141847552 TP63 Synonymous SNV L350L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 13.27 119838 chr12 133244944 133244944 G A rs61734163 POLE Nonsynonymous SNV A724V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 119839 chr12 28412353 28412353 T C CCDC91 Synonymous SNV I29I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.015 119840 chr6 74363577 74363577 G A rs139255194 SLC17A5 Synonymous SNV N11N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.402 119841 chr3 193272447 193272450 GTGT - ATP13A4-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 119842 chr16 20329578 20329578 C G GP2 Synonymous SNV V247V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.55 119843 chr6 75834860 75834860 G A rs117038107 COL12A1 Nonsynonymous SNV T1033I 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Benign 17.97 119844 chr14 64687258 64687258 A T rs149978500 SYNE2 Nonsynonymous SNV Q163L 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 119845 chr14 94964104 94964104 G A rs61757459 SERPINA12 Stop gain R211X 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 40 119846 chr14 95670080 95670080 C T rs143034500 CLMN Nonsynonymous SNV D536N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.255 119847 chr14 65239487 65239487 C T rs371039191 SPTB Synonymous SNV T1788T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.64 119848 chr3 194390824 194390824 C T rs143258150 LSG1 Nonsynonymous SNV R47H 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 35 119849 chr14 65390762 65390762 A C rs553476983 CHURC1, CHURC1-FNTB Synonymous SNV A58A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.909 119850 chr6 82891607 82891607 T C rs143257511 IBTK Synonymous SNV P1223P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.881 119851 chr6 82924243 82924243 T A IBTK Synonymous SNV I635I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 119852 chr12 32137084 32137084 C T rs199612747 RESF1 Synonymous SNV G1065G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 119853 chr3 101384086 101384086 T A rs151249814 ZBTB11 Nonsynonymous SNV S449C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.634 119854 chr3 107491892 107491892 G A rs138961599 BBX Nonsynonymous SNV A442T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 0.831 119855 chr4 619416 619416 A G rs781003757 PDE6B Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 16.96 119856 chr3 185198314 185198314 T C rs377717971 MAP3K13 Synonymous SNV Y725Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.915 119857 chr15 102255146 102255146 G A rs148053074 TARS3 Nonsynonymous SNV T196M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.87 119858 chr6 99916420 99916420 T - rs554927779 USP45 V337Sfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 119859 chr12 4488661 4488661 G A rs758725402 FGF23 Nonsynonymous SNV P30S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.5 119860 chr16 28992930 28992930 C T rs773385028 SPNS1 Nonsynonymous SNV A246V 0.012 0 0 2 14 0 0.005 0 0 0 0 0 22.7 119861 chr14 77319577 77319577 A C LRRC74A Nonsynonymous SNV K278Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.96 119862 chr14 76928912 76928912 C G ESRRB Nonsynonymous SNV A141G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 119863 chr15 31776213 31776213 - GGCGGC OTUD7A A689_T690insAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 119864 chr4 2692532 2692532 G C FAM193A Nonsynonymous SNV A589P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 119865 chr3 193081090 193081090 C T rs201387347 ATP13A5 Nonsynonymous SNV E107K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.666 119866 chr15 35045213 35045215 CTT - GJD2 K144del 0.001 0 0 0 1 0 0 0 0 0 0 0 119867 chr3 195490309 195490309 C T rs74507812 MUC4 Nonsynonymous SNV V463I 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 21.9 119868 chr15 40259942 40259942 C T EIF2AK4 Nonsynonymous SNV P472L 0.001 0 0 0 1 0 0 0 0 0 0 0 28 119869 chr14 88974290 88974290 T C rs138752198 PTPN21 Nonsynonymous SNV Q142R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.914 119870 chr7 100551064 100551064 T G rs558490521 MUC3A Nonsynonymous SNV L549V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.845 119871 chr4 5990090 5990090 A G C4orf50 Nonsynonymous SNV L1049P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.135 119872 chr3 121356079 121356079 C T rs142478875 HCLS1 Nonsynonymous SNV R160Q 0.004 0 0 0 5 0 0 0 0 0 0 0 26.4 119873 chr3 121724163 121724163 C T rs200130100 ILDR1 Nonsynonymous SNV A103T 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 25.1 119874 chr3 197670651 197670651 C T rs146833269 IQCG Nonsynonymous SNV V94M 0 0 0 2 0 0 0.005 0 0 0 0 0 1.309 119875 chr15 41857297 41857297 A G TYRO3 Synonymous SNV P202P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.939 119876 chr15 42154118 42154118 C T rs369072456 SPTBN5 Nonsynonymous SNV E2518K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 119877 chr14 94935628 94935628 G A rs78283108 SERPINA9 Stop gain Q104X 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 28.2 119878 chr12 52777513 52777513 - A KRT84 Frameshift insertion I206Yfs*26 0.001 0.008 0 0 1 3 0 0 0 0 0 0 119879 chr15 43815117 43815117 A G rs55941117 MAP1A Synonymous SNV G482G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.237 119880 chr7 100816796 100816796 C T NAT16 Synonymous SNV A106A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 119881 chr3 124709630 124709630 C - HEG1 0.002 0 0 0 2 0 0 0 0 0 0 0 119882 chr3 124732578 124732578 G A rs759380849 HEG1 Synonymous SNV D615D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.24 119883 chr16 50750562 50750562 G A rs104895445 NOD2 Nonsynonymous SNV E816K 0.003 0 0 0 3 0 0 0 0 0 0 0 not provided 17.43 119884 chr15 45557311 45557311 G A rs779424693 SLC28A2 Nonsynonymous SNV G243S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 119885 chr16 50813919 50813919 A G rs369789110 CYLD Synonymous SNV P491P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.38 119886 chr4 20535313 20535313 A G SLIT2 Nonsynonymous SNV K599E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.7 119887 chr15 52505408 52505408 T C MYO5C Nonsynonymous SNV K1373R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 119888 chr7 11521507 11521507 G A rs185949384 THSD7A Nonsynonymous SNV T642M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 119889 chr16 57243033 57243033 A G RSPRY1 Synonymous SNV P150P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.942 119890 chr12 53564257 53564257 C T rs80280748 CSAD Synonymous SNV A199A 0.003 0.008 0.007 1 3 3 0.003 2 0 0 1 0 Benign 21 119891 chr12 53566165 53566165 G A rs57871710 CSAD Synonymous SNV A103A 0.003 0.008 0.007 2 3 3 0.005 2 0 0 1 0 Benign 17.34 119892 chr15 31197584 31197584 G A rs150748572 FAN1 Nonsynonymous SNV E240K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 11.53 119893 chr16 57790783 57790783 G A rs782183516 KATNB1 Synonymous SNV K631K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 119894 chr7 120780966 120780966 T G rs780950115 CPED1 Nonsynonymous SNV D595E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.248 119895 chr12 53693583 53693583 C T rs138986768 C12orf10 Nonsynonymous SNV T21I 0.002 0.008 0.007 0 2 3 0 2 0 0 1 0 2.753 119896 chr7 121944279 121944279 G A rs142331989 FEZF1 Synonymous SNV I71I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.795 119897 chr15 30260887 30260887 C G rs578151217 TJP1 Synonymous SNV P52P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.92 119898 chr15 31221493 31221493 C T rs80120912 FAN1 Nonsynonymous SNV P894S 0.018 0.016 0.01 4 21 6 0.01 3 0 0 0 0 0.002 119899 chr12 53776610 53776610 G A rs146790491 SP1 Synonymous SNV E245E 0.002 0.008 0.007 0 2 3 0 2 0 0 1 0 2.699 119900 chr4 39217563 39217563 A T rs192495145 WDR19 Nonsynonymous SNV D195V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.47 119901 chr15 34395103 34395103 C T PGBD4 Nonsynonymous SNV T124I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.2 119902 chr4 40356097 40356097 C T rs138544578 CHRNA9 Nonsynonymous SNV P334S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26.5 119903 chr15 57815782 57815782 C T rs150883802 CGNL1 Synonymous SNV N937N 0.016 0.01 0.024 10 19 4 0.026 7 1 0 0 0 Benign 16.19 119904 chr15 37391801 37391801 C T MEIS2 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.94 119905 chr16 67686134 67686134 A G CARMIL2 Synonymous SNV T903T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 119906 chr15 34080628 34080628 C T rs182972491 RYR3 Nonsynonymous SNV P3267S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 119907 chr15 35830665 35830665 C T rs34907758 DPH6 Nonsynonymous SNV G41E 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 9.146 119908 chr15 37187365 37187365 C G MEIS2 Synonymous SNV G365G 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 1.827 119909 chr12 53512681 53512681 T - rs756142385 SOAT2 Y291Mfs*36 0 0.003 0 0 0 1 0 0 0 0 0 0 119910 chr4 48578090 48578090 G A FRYL Nonsynonymous SNV T893M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 119911 chr7 133932335 133932335 G A rs748022564 LRGUK Nonsynonymous SNV E671K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 119912 chr4 56846332 56846332 T A rs776875723 CEP135 Nonsynonymous SNV H499Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.638 119913 chr15 40660039 40660039 G C rs139541441 DISP2 Nonsynonymous SNV G576R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.2 119914 chr7 138603106 138603106 C T rs377103292 KIAA1549 Synonymous SNV A422A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 119915 chr15 41488231 41488231 G C rs139947718 EXD1 Nonsynonymous SNV A122G 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 24.5 119916 chr12 56477541 56477541 C T rs56017157 ERBB3 Nonsynonymous SNV P30L 0.007 0.008 0.01 0 8 3 0 3 0 0 0 0 Uncertain significance 23 119917 chr16 74983639 74983639 G A rs143754167 WDR59 Synonymous SNV T128T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 119918 chr12 56822148 56822148 C T rs142494100 TIMELESS Nonsynonymous SNV A483T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.458 119919 chr16 75573915 75573915 A C rs182008317 TMEM231 Nonsynonymous SNV L363V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 0.001 119920 chr16 75573916 75573916 G T rs186119649 TMEM231 Nonsynonymous SNV D362E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 0.002 119921 chr12 64879272 64879272 C T rs150609728 TBK1 Synonymous SNV D409D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 11.44 119922 chr15 74836289 74836289 - CAG rs770169890 ARID3B Q15_K16insQ 0.004 0 0 0 5 0 0 0 0 0 0 0 119923 chr4 73148885 73148885 G A rs147368234 ADAMTS3 Nonsynonymous SNV R1196C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 119924 chr7 144364833 144364834 AA - rs750353526 TPK1 F52Yfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 119925 chr12 6058976 6058976 T C VWF Synonymous SNV V2743V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 119926 chr4 77660470 77660470 G T SHROOM3 Nonsynonymous SNV A382S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.1 119927 chr15 52567843 52567843 G T MYO5C Synonymous SNV A174A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 11.85 119928 chr12 7045906 7045906 - CAGCAGCAG ATN1 Q502_H503insQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 119929 chr12 665943 665943 T G B4GALNT3 Nonsynonymous SNV V764G 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.043 119930 chr12 70975063 70975063 G A rs112333061 PTPRB Synonymous SNV D469D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 9.033 119931 chr12 6673073 6673073 G A rs370162325 NOP2 Nonsynonymous SNV R168W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 119932 chr7 150883687 150883687 G A rs377623437 ASB10 Nonsynonymous SNV R126C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 119933 chr3 183901389 183901389 T C rs13262 AP2M1 Synonymous SNV Y429Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.024 119934 chr4 86491702 86491702 A G rs150698221 ARHGAP24 Nonsynonymous SNV E3G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.6 119935 chr15 55912900 55912900 C A rs113426889 PRTG Nonsynonymous SNV W1053C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 26.4 119936 chr3 183978936 183978936 G A rs75699255 CAMK2N2 Synonymous SNV P46P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.99 119937 chr3 184005719 184005719 G A rs35875049 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV R424Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 24.3 119938 chr3 184017078 184017078 G A rs10937165 PSMD2 Synonymous SNV K8K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.57 119939 chr3 184023918 184023918 A G rs34477849 PSMD2 Synonymous SNV T463T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.05 119940 chr3 184039304 184039304 A G rs16858632 EIF4G1 Nonsynonymous SNV Y115C 0.003 0 0 0 3 0 0 0 0 0 0 0 11.62 119941 chr4 88967919 88967919 T G rs75762896 PKD2 Nonsynonymous SNV F482C 0.008 0.01 0.017 2 9 4 0.005 5 0 0 0 0 Benign/Likely benign 27.7 119942 chr3 184290951 184290951 G A rs56337404 EPHB3 Synonymous SNV E281E 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 6.508 119943 chr12 7045942 7045942 C T rs782485916 ATN1 Synonymous SNV H504H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.941 119944 chr15 89002946 89002946 A C MRPL46 Synonymous SNV A246A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.073 119945 chr15 59506892 59506892 G C rs150983259 MYO1E Nonsynonymous SNV H379D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.01 119946 chr3 185214740 185214740 T C rs149580105 TMEM41A Nonsynonymous SNV E50G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.2 119947 chr12 71286693 71286693 T C rs12822996 PTPRR Synonymous SNV V41V 0.005 0.008 0.02 2 6 3 0.005 6 0 0 0 0 0.032 119948 chr7 16714191 16714191 C A rs747801736 BZW2 Synonymous SNV I71I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 119949 chr7 19748629 19748636 CCTGCAGC - TWISTNB A2Lfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 119950 chr7 20668403 20668403 G A rs114276553 ABCB5 Synonymous SNV L67L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 119951 chr15 62360366 62360366 C G rs559668449 C2CD4A Nonsynonymous SNV P185R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 119952 chr15 63920934 63920934 C T rs183761136 HERC1 Synonymous SNV S4349S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.3 119953 chr7 21805074 21805074 G A rs72657371 DNAH11 Nonsynonymous SNV R2990H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 119954 chr7 21805123 21805123 G A rs72657372 DNAH11 Synonymous SNV T3006T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.01 119955 chr4 110384275 110384275 A G rs772062432 SEC24B Nonsynonymous SNV S118G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.523 119956 chr12 9260177 9260177 G A rs202126909 A2M Synonymous SNV D124D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 1.098 119957 chr15 90904098 90904098 G T ZNF774 Nonsynonymous SNV R345S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 119958 chr7 2623271 2623271 C G rs182671518 IQCE Nonsynonymous SNV S169R 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 23.3 119959 chr4 113508884 113508884 G A rs201097479 ZGRF1 Nonsynonymous SNV S1052L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.1 119960 chr4 113568191 113568193 TTC - rs764991008 LARP7 L186del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 119961 chr15 93521532 93521532 C T CHD2 Synonymous SNV V882V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 119962 chr4 983818 983818 T C rs775847920 SLC26A1 Synonymous SNV T303T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 119963 chr15 75042132 75042132 C G rs17861152 CYP1A2 Nonsynonymous SNV S18C 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 20.5 119964 chr17 10419317 10419317 C T rs753684645 MYH1 Nonsynonymous SNV R144Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 119965 chr15 75043592 75043592 C A rs17861157 CYP1A2 Nonsynonymous SNV S298R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 5.151 119966 chr15 99467831 99467831 C T rs56400113 IGF1R Synonymous SNV N900N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 13 119967 chr15 75111530 75111530 G A rs62621375 LMAN1L Nonsynonymous SNV G212D 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 0.131 119968 chr15 75116009 75116009 C T rs114366521 LMAN1L Nonsynonymous SNV L437F 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.1 119969 chr12 97024415 97024415 G C rs530120061 CFAP54 Nonsynonymous SNV M1434I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.537 119970 chr15 75305058 75305058 G T rs60910940 SCAMP5 Synonymous SNV P16P 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 11.8 119971 chr16 10524821 10524821 C T rs141625467 ATF7IP2 Nonsynonymous SNV S115L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 119972 chr15 77407516 77407516 G T rs56079860 PEAK1 Nonsynonymous SNV P1408Q 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 15.08 119973 chr13 103391754 103391754 C T rs146314334 CCDC168 Nonsynonymous SNV A3765T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.211 119974 chr7 34192801 34192801 G A rs140264933 BMPER Synonymous SNV P658P 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.145 119975 chr16 1268257 1268257 C T rs60218977 CACNA1H Synonymous SNV Y1825Y 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 11.71 119976 chr4 140454436 140454436 C T rs151011357 SETD7 Synonymous SNV T85T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.29 119977 chr16 1391137 1391137 C T rs114342132 BAIAP3 Nonsynonymous SNV T159M 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 22.4 119978 chr15 85164606 85164606 G A rs140001287 ZSCAN2 Nonsynonymous SNV D394N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 119979 chr15 78922287 78922287 G A rs146597342 CHRNB4 Synonymous SNV N120N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.075 119980 chr7 45123906 45123906 T G rs61740887 NACAD Nonsynonymous SNV I625L 0 0 0.01 0 0 0 0 3 0 0 0 0 0.001 119981 chr13 111110569 111110569 C T rs186477441 COL4A2-AS2 Nonsynonymous SNV G46D 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 6.073 119982 chr7 45123925 45123925 C T rs377425677 NACAD Synonymous SNV K618K 0 0 0.01 0 0 0 0 3 0 0 0 0 4.6 119983 chr7 45123937 45123937 T C rs112035890 NACAD Synonymous SNV S614S 0.012 0.008 0.017 3 14 3 0.008 5 1 0 0 0 0.015 119984 chr15 85478696 85478696 C T rs2242047 SLC28A1 Nonsynonymous SNV R510C 0.009 0.034 0.017 11 11 13 0.028 5 0 0 0 0 Affects 34 119985 chr13 114059938 114059938 C T rs753326392 LOC101928841 Nonsynonymous SNV R856Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.23 119986 chr7 47873941 47873941 C T rs17131834 PKD1L1 Nonsynonymous SNV R2057H 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 7.351 119987 chr4 7006636 7006636 G C rs11731231 TBC1D14 Nonsynonymous SNV E166Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.4 119988 chr17 19285217 19285217 G A MAPK7 Nonsynonymous SNV R395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 119989 chr16 1748906 1748906 C T rs138975908 JPT2 Synonymous SNV V160V 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 12.95 119990 chr7 4824623 4824623 G A rs374130083 AP5Z1 Nonsynonymous SNV R136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 119991 chr17 19606442 19606442 G A rs1032664233 SLC47A2 Synonymous SNV L353L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.018 119992 chr13 21729289 21729289 - CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTA SKA3 Stop gain K374_R388del 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 119993 chr17 19641651 19641651 G A rs370815018 ALDH3A1 Synonymous SNV P444P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.906 119994 chr4 158256891 158256891 C T rs563475505 GRIA2 Synonymous SNV Y445Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.87 119995 chr4 159138537 159138537 A T rs761614306 TMEM144 Synonymous SNV G99G 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 3.884 119996 chr17 20108038 20108038 A G rs370838354 SPECC1 Nonsynonymous SNV I145V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 119997 chr13 23914886 23914886 T C rs148878361 SACS Synonymous SNV S896S 0.004 0.005 0 8 5 2 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.016 119998 chr7 51111340 51111340 C T rs61737951 COBL Synonymous SNV P382P 0.024 0.034 0.01 24 28 13 0.062 3 1 1 0 1 9.92 119999 chr13 25743762 25743762 C A AMER2 Nonsynonymous SNV D666Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 120000 chr7 5410327 5410327 C T rs533386033 TNRC18 Nonsynonymous SNV A1300T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.075 120001 chr7 5410675 5410675 C T rs769765881 TNRC18 Nonsynonymous SNV A1184T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.474 120002 chr16 2130259 2130259 C T rs45448801 TSC2 Nonsynonymous SNV A920V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 2.595 120003 chr15 90349517 90349517 G A rs145026743 ANPEP Synonymous SNV L100L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 1.695 120004 chr15 90278772 90278772 C G WDR93 Synonymous SNV A504A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.694 120005 chr15 90281294 90281294 G A rs112250240 WDR93 Synonymous SNV A568A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.72 120006 chr13 31848718 31848718 G A rs34830061 B3GLCT Nonsynonymous SNV V245M 0.013 0.01 0.007 4 15 4 0.01 2 0 0 0 0 Benign/Likely benign 8.617 120007 chr15 90770828 90770828 C A SEMA4B Nonsynonymous SNV D438E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 120008 chr16 2523977 2523977 C T NTN3 Synonymous SNV G538G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.33 120009 chr15 90996087 90996087 G A rs200988874 IQGAP1 Nonsynonymous SNV E415K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.1 120010 chr13 35734078 35734078 C T rs201399155 NBEA Nonsynonymous SNV A1257V 0.001 0.005 0 7 1 2 0.018 0 0 0 0 0 18.59 120011 chr16 2763578 2763578 A G rs773730183 PRSS27 Synonymous SNV N108N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 120012 chr13 38156643 38156643 G C rs148106282 POSTN Nonsynonymous SNV L418V 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 23.6 120013 chr17 27943015 27943015 C A rs558798899 CORO6 Nonsynonymous SNV R180L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.8 120014 chr13 39261909 39261909 C T FREM2 Nonsynonymous SNV A143V 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 34 120015 chr13 42535105 42535105 C A VWA8 Nonsynonymous SNV G16V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 12.97 120016 chr4 41263776 41263776 A C rs150601238 UCHL1 Nonsynonymous SNV M124L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.014 120017 chr13 42876111 42876111 C T rs868787925 AKAP11 Nonsynonymous SNV L1077F 0.004 0.005 0 0 5 2 0 0 0 0 0 0 10.12 120018 chr16 28332182 28332182 C T rs149836448 SBK1 Synonymous SNV G405G 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 10.54 120019 chr13 45147926 45147926 G A rs146542445 TSC22D1 Nonsynonymous SNV S762L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 17.97 120020 chr7 79764566 79764566 G A rs140693023 GNAI1 Synonymous SNV A30A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.63 120021 chr7 82595438 82595438 A G rs367747107 PCLO Synonymous SNV P1222P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.129 120022 chr16 29818632 29818632 G C MAZ Nonsynonymous SNV V176L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.57 120023 chr7 86781755 86781755 C T rs561333892 LOC101927420 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 120024 chr5 458092 458092 C T EXOC3 Synonymous SNV A414A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.41 120025 chr7 87178695 87178695 C T ABCB1 Nonsynonymous SNV S565N 0 0 0.003 0 0 0 0 1 0 0 0 0 28 120026 chr7 87214968 87214968 A G rs202240722 ABCB1 Nonsynonymous SNV L49S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 120027 chr16 30092631 30092631 A G rs138962506 PPP4C Synonymous SNV T50T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 120028 chr16 1144758 1144772 CCCCCTCCACAGGTC - rs751866063 C1QTNF8 D51_G55del 0.001 0 0 0 1 0 0 0 0 0 0 0 120029 chr16 30429590 30429590 C T rs532162207 ZNF771 Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 120030 chr16 30709573 30709573 G T rs535039107 LOC730183 Synonymous SNV A19A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.244 120031 chr16 14234604 14234604 C T rs79629931 MRTFB Synonymous SNV N47N 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 16.35 120032 chr16 30795474 30795474 T A rs201347043 ZNF629 Nonsynonymous SNV T59S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.001 120033 chr16 31087950 31087950 G C rs143373931 ZNF646 Nonsynonymous SNV R102P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 22.9 120034 chr7 92151542 92151542 C T rs202230667 PEX1 Synonymous SNV V49V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.67 120035 chr13 76445368 76445368 C G rs117268050 LMO7DN 0.003 0 0 0 4 0 0 0 0 0 0 0 15.85 120036 chr7 97861243 97861243 T C rs200666526 TECPR1 Nonsynonymous SNV Q616R 0.005 0.013 0.01 7 6 5 0.018 3 0 1 0 0 12.75 120037 chr7 98628514 98628514 G T rs219809 LOC101927550 0 0 0.014 0 0 0 0 4 0 0 0 0 1.801 120038 chr13 61013895 61013895 A T TDRD3 Nonsynonymous SNV I39F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 120039 chr5 16481181 16481181 C T rs143878016 RETREG1 Nonsynonymous SNV V62M 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 120040 chr13 77635329 77635329 T C rs146032966 MYCBP2 Synonymous SNV A4337A 0.001 0.005 0.007 4 1 2 0.01 2 0 0 0 0 6.933 120041 chr13 77695623 77695623 A G rs373134767 MYCBP2 Synonymous SNV A2675A 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Likely benign 6.732 120042 chr16 3544737 3544737 G A rs543343949 C16orf90 Nonsynonymous SNV R63W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 120043 chr4 186425638 186425638 C T rs143812960 PDLIM3 Nonsynonymous SNV S132N 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.29 120044 chr16 19468200 19468200 G C rs148716221 TMC5 Nonsynonymous SNV V58L 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 0.54 120045 chr8 103819470 103819470 A G rs77314830 GASAL1 0 0 0.014 0 0 0 0 4 0 0 0 0 4.283 120046 chr8 10466274 10466274 G T rs368227858 RP1L1 Nonsynonymous SNV N1778K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 120047 chr14 102481630 102481630 A C rs150888094 DYNC1H1 Nonsynonymous SNV K2401N 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.83 120048 chr17 38178286 38178286 G A rs773097853 MED24 Synonymous SNV L836L 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 10.24 120049 chr13 99992657 99992657 T C rs750897095 UBAC2 Synonymous SNV S180S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.441 120050 chr14 100795302 100795302 C T rs552855154 SLC25A47 Synonymous SNV D43D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.93 120051 chr16 4845948 4845948 G - rs778473760 SMIM22 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 120052 chr16 4845952 4845958 CCGTGCT - rs745437189 SMIM22 T43Sfs*49 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 120053 chr16 4848150 4848150 C T rs143000899 ROGDI Synonymous SNV L189L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.74 120054 chr5 35654737 35654737 G A rs765123180 SPEF2 Nonsynonymous SNV R296H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 120055 chr14 102494373 102494373 C T rs547968657 DYNC1H1 Synonymous SNV I3121I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 16.22 120056 chr14 102494412 102494412 G A rs145095254 DYNC1H1 Synonymous SNV P3134P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 0.605 120057 chr16 23428402 23428402 T C rs116331296 COG7 Nonsynonymous SNV H393R 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.11 120058 chr14 104194228 104194228 A G rs71417876 ZFYVE21 Nonsynonymous SNV K112R 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 18.12 120059 chr17 3926077 3926077 A T ZZEF1 Nonsynonymous SNV L2380M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.25 120060 chr16 2546986 2546986 G A rs368286737 TBC1D24 Synonymous SNV T279T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.262 120061 chr4 90856676 90856676 T C rs144025531 MMRN1 Synonymous SNV H615H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 120062 chr16 57785609 57785609 G A rs61729344 KATNB1 Synonymous SNV A163A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 8.345 120063 chr16 57787079 57787079 G A rs61729342 KATNB1 Nonsynonymous SNV V316M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 17.05 120064 chr16 28997940 28997940 G A rs145698858 LAT Synonymous SNV P130P 0.005 0.005 0 0 6 2 0 0 0 0 0 0 2.967 120065 chr16 57918268 57918268 G A rs7190372 CNGB1 Nonsynonymous SNV P1180S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.195 120066 chr8 128098613 128098613 C T rs184126408 PRNCR1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.72 120067 chr14 20666340 20666340 C - rs528205284 OR11G2 L283Wfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 120068 chr16 597581 597581 G A rs749018970 CAPN15 Nonsynonymous SNV R248Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 120069 chr16 61687911 61687911 G A rs35314742 CDH8 Synonymous SNV Y667Y 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 10.47 120070 chr16 65016014 65016014 G A rs756694480 CDH11 Nonsynonymous SNV A271V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 120071 chr16 30991933 30991933 C T rs56788559 SETD1A Synonymous SNV D1512D 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 14.55 120072 chr5 66460390 66460390 G A rs17221458 MAST4 Nonsynonymous SNV V1534I 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 29.3 120073 chr16 67040359 67040359 C T rs761861428 CES4A Nonsynonymous SNV R363C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.78 120074 chr17 40054957 40054957 C T rs781923056 ACLY Nonsynonymous SNV R422Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 25 120075 chr16 67220705 67220705 G A rs553579108 EXOC3L1 Nonsynonymous SNV P414L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.639 120076 chr17 41063003 41063003 A G rs756944737 G6PC Nonsynonymous SNV I212V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 0.001 120077 chr16 3118184 3118184 G A rs142297204 IL32 Nonsynonymous SNV D40N 0.003 0.01 0.007 3 4 4 0.008 2 0 0 0 0 0.004 120078 chr16 70285799 70285799 G A rs201962601 EXOSC6 Nonsynonymous SNV P2L 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 24.2 120079 chr16 3293310 3293310 A G rs28940579 MEFV Nonsynonymous SNV V726A 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 Pathogenic/Likely pathogenic 0.001 120080 chr16 70515000 70515000 C A rs747527122 COG4 Synonymous SNV T736T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.8 120081 chr5 40936541 40936541 T C rs2271708 C7 Nonsynonymous SNV C128R 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 24.3 120082 chr16 70697837 70697837 C T MTSS2 Nonsynonymous SNV E663K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 120083 chr8 144063624 144063624 G A rs61688795 LY6E-DT 0 0 0.075 0 0 0 0 22 0 0 4 0 4.877 120084 chr14 23373533 23373533 A G RBM23 Synonymous SNV I255I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 120085 chr16 347928 347928 C T rs139163339 AXIN1 Synonymous SNV A526A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.7 120086 chr16 3639676 3639676 C T rs116781836 SLX4 Synonymous SNV P1321P 0.014 0.016 0.014 7 17 6 0.018 4 0 0 0 0 Benign/Likely benign 12.38 120087 chr16 30958269 30958371 GGTAAGCACGGTCCCCCATCCGTCCTGCCAGCCTGTGGATCCCCACGGCCAGTGCCAACCCCTTGCTCACCTGCCTGGTCTCAGCTCCACTGCCCCATCCCCA - FBXL19 G636Vfs*5 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 120088 chr16 3778600 3778600 G T rs759908211 CREBBP Nonsynonymous SNV P2112T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 120089 chr4 128819677 128819677 C T rs770530003 PLK4 Nonsynonymous SNV P933L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 120090 chr5 76373168 76373168 G C rs531117283 ZBED3 Nonsynonymous SNV A179G 0.008 0.013 0.007 2 9 5 0.005 2 0 0 0 0 19.54 120091 chr16 72992178 72992178 C T rs777152835 ZFHX3 Nonsynonymous SNV A623T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.72 120092 chr16 735922 735922 G A WDR24 Nonsynonymous SNV A507V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.461 120093 chr16 46772005 46772005 - G rs775401309 MYLK3 Frameshift insertion I207Hfs*9 0.001 0.003 0 0 1 1 0 0 0 0 0 0 120094 chr14 24621171 24621171 C T rs369668951 RNF31 Synonymous SNV A549A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 120095 chr16 46943745 46943745 G A rs72812444 GPT2 Synonymous SNV A142A 0.011 0.013 0 4 13 5 0.01 0 0 0 0 0 Benign 11.62 120096 chr14 24885382 24885382 C T rs199709655 NYNRIN Nonsynonymous SNV P1476L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.23 120097 chr16 46642286 46642286 G A rs34559393 SHCBP1 Synonymous SNV N166N 0.009 0.018 0.007 2 10 7 0.005 2 0 0 0 0 10.02 120098 chr16 4935119 4935119 C G PPL Synonymous SNV R1179R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.959 120099 chr16 80718822 80718822 G A CDYL2 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.634 120100 chr8 145512932 145512932 G A rs148287422 BOP1 Synonymous SNV G51G 0 0 0.007 0 0 0 0 2 0 0 0 0 15.21 120101 chr8 145660522 145660522 C T rs746481264 TONSL Nonsynonymous SNV E962K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 120102 chr16 55703498 55703498 C T rs1805065 SLC6A2 Nonsynonymous SNV T99I 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 Benign 15.86 120103 chr16 81249919 81249919 C T rs117142104 PKD1L2 Nonsynonymous SNV G132R 0.006 0.003 0.014 7 7 1 0.018 4 0 0 0 0 1.885 120104 chr16 81819720 81819720 C G PLCG2 Synonymous SNV T42T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.47 120105 chr16 818687 818687 C T rs141160926 MSLN Nonsynonymous SNV P616L 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Likely benign 6.167 120106 chr8 2020452 2020452 C T rs369641198 MYOM2 Nonsynonymous SNV T274M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 120107 chr14 52465236 52465236 C T rs149288575 RTRAF Nonsynonymous SNV P104L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 23.2 120108 chr17 56056604 56056604 - TGTTGC VEZF1 Q354_H355insQQ 0.004 0 0 2 5 0 0.005 0 0 0 0 0 120109 chr16 601533 601533 G A rs141298471 CAPN15 Synonymous SNV P738P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.04 120110 chr14 52477635 52477635 A G rs138811828 NID2 Synonymous SNV D1227D 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Benign 1.751 120111 chr8 21960118 21960118 C T rs756173971 FAM160B2 Nonsynonymous SNV T690M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 120112 chr8 22165540 22165540 A G rs780385115 PIWIL2 Nonsynonymous SNV N547S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.772 120113 chr14 53618980 53618980 G A rs758999007 DDHD1 Synonymous SNV N279N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.74 120114 chr14 55511065 55511065 C T rs200197521 SOCS4 Nonsynonymous SNV P436S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 120115 chr5 112824069 112824069 T C rs201571604 MCC Nonsynonymous SNV S15G 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 1.185 120116 chr16 88494870 88494870 C T rs149485731 ZNF469 Nonsynonymous SNV A331V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Uncertain significance 7.143 120117 chr16 68398734 68398736 GAG - SMPD3 S494del 0.001 0 0 0 1 0 0 0 0 0 0 0 120118 chr8 24771599 24771599 G T NEFM Nonsynonymous SNV R98L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 120119 chr16 68729736 68729736 C G rs925607167 CDH3 Synonymous SNV L675L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.65 120120 chr17 6387056 6387056 C T rs762779113 PITPNM3 Nonsynonymous SNV R87H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.5 120121 chr16 88789687 88789687 C T rs188337046 PIEZO1 Nonsynonymous SNV R1462Q 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 Benign 20.6 120122 chr14 64681103 64681103 C G rs150363140 SYNE2 Synonymous SNV P50P 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Benign/Likely benign 13.4 120123 chr16 88947735 88947735 G A rs202023439 CBFA2T3 Nonsynonymous SNV R370C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.2 120124 chr5 640640 640640 G A rs146198853 CEP72 Nonsynonymous SNV R487H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.245 120125 chr5 640680 640680 C T CEP72 Synonymous SNV S500S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 120126 chr8 33370996 33370996 C T rs200525521 SNORD13 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 120127 chr8 33371062 33371062 C T rs2732289 SNORD13 0 0 0.031 0 0 0 0 9 0 0 0 0 8.771 120128 chr8 37728031 37728031 C T rs61741611 RAB11FIP1 Synonymous SNV K546K 0.019 0.029 0.037 6 22 11 0.015 11 0 0 0 0 17.07 120129 chr5 137525343 137525343 T C rs2231479 CDC23 Synonymous SNV Q534Q 0.009 0.016 0 0 10 6 0 0 0 0 0 0 1.225 120130 chr5 137680697 137680697 C G rs780097921 FAM53C Nonsynonymous SNV P107R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.57 120131 chr16 767235 767235 G A rs371055747 METRN Nonsynonymous SNV V244I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 120132 chr17 1028587 1028587 C T rs141739875 ABR Synonymous SNV Q13Q 0.004 0 0 0 5 0 0 0 0 0 0 0 8 120133 chr5 119816974 119816974 C A PRR16 Nonsynonymous SNV R26S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.607 120134 chr5 13844951 13844951 C T rs116524991 DNAH5 Nonsynonymous SNV E1756K 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 23.5 120135 chr8 56912074 56912074 C T rs372082564 LYN Synonymous SNV Y413Y 0 0 0.007 0 0 0 0 2 0 0 0 0 11.92 120136 chr16 81942028 81942028 C G rs72824905 PLCG2 Nonsynonymous SNV P522R 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Benign/Likely benign 11.12 120137 chr17 11502117 11502117 T - rs769795916 DNAH9 F103Sfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 120138 chr8 67589975 67589975 C T rs186267809 C8orf44 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 120139 chr8 73153000 73153000 G A rs72663465 LOC392232 0 0 0.01 0 0 0 0 3 0 0 0 0 11.94 120140 chr8 74234185 74234185 G A rs77180466 RDH10-AS1 0 0 0.034 0 0 0 0 10 0 0 0 0 3.804 120141 chr5 140856359 140856359 G T rs376910320 PCDHGC3 Nonsynonymous SNV A226S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 11.01 120142 chr5 137593406 137593406 G A rs751618738 GFRA3 Nonsynonymous SNV A236V 0 0 0 2 0 0 0.005 0 0 0 0 0 23 120143 chr8 94178995 94178995 A G rs923112265 C8orf87 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.002 120144 chr16 85012833 85012833 C T rs764736020 ZDHHC7 Nonsynonymous SNV V167I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.7 120145 chr5 41925554 41925554 C T FBXO4 Nonsynonymous SNV S48L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 120146 chr16 85022418 85022418 A G ZDHHC7 Nonsynonymous SNV L126P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 10.64 120147 chr5 42762580 42762580 G A rs576895096 CCDC152 Synonymous SNV L41L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.925 120148 chr5 43161606 43161606 T G ZNF131 Synonymous SNV S209S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.642 120149 chr8 97384281 97384281 C T rs139597723 LOC102724804 0 0 0.003 0 0 0 0 1 0 0 0 0 1.885 120150 chr17 74277984 74277984 G A rs765756749 QRICH2 Synonymous SNV A1242A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.005 120151 chr14 93813725 93813725 G T rs201840112 COX8C Synonymous SNV R37R 0.006 0.016 0.003 7 7 6 0.018 1 0 0 0 0 0.301 120152 chr16 84695681 84695681 G A rs772394247 KLHL36 Nonsynonymous SNV R535Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 8.572 120153 chr5 149242764 149242764 C T rs10067462 PDE6A Synonymous SNV E808E 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 15.87 120154 chr5 149314258 149314258 C T rs138274547 PDE6A Synonymous SNV V166V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.14 120155 chr5 149324060 149324060 T C rs146550067 PDE6A Synonymous SNV E59E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 1.922 120156 chr17 1940223 1940223 G A rs201266276 DPH1 Nonsynonymous SNV R83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 120157 chr14 94697020 94697020 A T PPP4R4 Nonsynonymous SNV T50S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 120158 chr14 94707061 94707061 C A rs568090661 PPP4R4 Nonsynonymous SNV S221Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29 120159 chr14 94914734 94914734 A C rs35301459 SERPINA11 Synonymous SNV L126L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 120160 chr14 95909625 95909625 - TT rs753287255 SYNE3 Frameshift insertion G593Efs*75 0 0.003 0 0 0 1 0 0 0 0 0 0 120161 chr5 140953432 140953432 C T rs200735096 DIAPH1 Nonsynonymous SNV G653D 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 2.789 120162 chr16 88787615 88787615 C T rs201967733 PIEZO1 Nonsynonymous SNV R1876K 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Benign 0.987 120163 chr9 107289193 107289193 G A OR13C4 Stop gain Q100X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 120164 chr14 96730590 96730590 C G rs143823168 BDKRB1 Nonsynonymous SNV L191V 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 120165 chr5 150930323 150930323 C T rs200746707 FAT2 Nonsynonymous SNV R1469Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.38 120166 chr16 88778560 88778560 C T rs74033358 CTU2 Synonymous SNV S145S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.781 120167 chr17 77082251 77082251 C T rs200514259 ENGASE Synonymous SNV P684P 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 11.95 120168 chr15 22866927 22866927 T C rs536316130 TUBGCP5 Nonsynonymous SNV L815S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.69 120169 chr16 89715807 89715807 G A rs199628110 CHMP1A Nonsynonymous SNV R62C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 12.02 120170 chr15 23049282 23049282 G A rs547634456 NIPA1 Synonymous SNV I104I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 11.46 120171 chr5 76355568 76355568 C T rs142635767 AGGF1 Nonsynonymous SNV S615F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 120172 chr5 167671603 167671603 G A rs202224064 TENM2 Nonsynonymous SNV R1661H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 120173 chr15 32928132 32928132 A G rs181277488 ARHGAP11A Nonsynonymous SNV Y500C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.027 120174 chr17 78933966 78933966 C G RPTOR Nonsynonymous SNV S1031C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 30 120175 chr15 31217428 31217428 G C rs60719098 FAN1 Synonymous SNV P757P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.293 120176 chr5 78264871 78264871 T C ARSB Nonsynonymous SNV K153E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 120177 chr15 31294451 31294451 C T rs16956430 TRPM1 Synonymous SNV T1501T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 14.16 120178 chr5 149495360 149495360 G A rs114435947 PDGFRB Nonsynonymous SNV A1032V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign/Likely benign 16.72 120179 chr17 27893408 27893408 G T ABHD15 Nonsynonymous SNV R193S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 120180 chr17 12647729 12647729 T C rs76490220 MYOCD Nonsynonymous SNV L316P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 18.38 120181 chr17 79495739 79495739 G T rs368665227 FSCN2 Nonsynonymous SNV R61L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 120182 chr15 34072444 34072444 C T rs778346225 RYR3 Nonsynonymous SNV S3057L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 120183 chr15 34544454 34544454 T C rs199945338 SLC12A6 Nonsynonymous SNV N402S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.18 120184 chr5 80338773 80338773 A G rs147733369 RASGRF2 Synonymous SNV K122K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.465 120185 chr5 172110975 172110975 G A rs145984019 NEURL1B Synonymous SNV V195V 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 7.971 120186 chr9 123298723 123298723 T C rs147435272 CDK5RAP2 Nonsynonymous SNV S197G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 120187 chr5 175110797 175110797 G A rs146642156 HRH2 Synonymous SNV G187G 0 0.005 0 0 0 2 0 0 0 0 0 0 7.447 120188 chr5 81600585 81600585 C T rs185227438 ATP6AP1L Nonsynonymous SNV T100I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 120189 chr5 82817866 82817866 C T rs757797721 VCAN Synonymous SNV D1247D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.215 120190 chr17 17068415 17068415 G A rs535925571 MPRIP Synonymous SNV L1202L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 15.73 120191 chr17 33592796 33592796 C T rs116154216 SLFN5 Synonymous SNV I855I 0.008 0 0.003 0 9 0 0 1 0 0 0 0 12.51 120192 chr5 153857230 153857230 T C rs150104384 HAND1 Synonymous SNV A113A 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 9.515 120193 chr17 80361872 80361872 T A rs147443905 OGFOD3 Nonsynonymous SNV I214L 0.003 0 0 0 4 0 0 0 0 0 0 0 20.2 120194 chr5 177547399 177547399 C G N4BP3 Nonsynonymous SNV P184R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 120195 chr17 80545006 80545006 G A rs148594749 FOXK2 Synonymous SNV T548T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 12.59 120196 chr5 96124299 96124299 C G ERAP1 Nonsynonymous SNV R538S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 120197 chr9 125873916 125873916 G A rs147291680 MIR600, MIR600HG 0 0 0.007 0 0 0 0 2 0 0 0 0 2.649 120198 chr17 35609911 35609911 A T rs372702647 ACACA Synonymous SNV T531T 0.003 0 0 0 4 0 0 0 0 0 0 0 4.585 120199 chr5 180048218 180048218 G T rs146456244 FLT4 Synonymous SNV T685T 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 5.543 120200 chr5 167379775 167379775 G T TENM2 Nonsynonymous SNV V108F 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 120201 chr6 2678561 2678561 C T rs202082637 MYLK4 Synonymous SNV T311T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.3 120202 chr17 21318660 21318660 C T rs148939916 KCNJ12, KCNJ18 Synonymous SNV T2T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.972 120203 chr15 42985999 42985999 C A rs35842593 STARD9 Synonymous SNV R4075R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 15 120204 chr15 44925763 44925763 A T rs773680273 SPG11 Nonsynonymous SNV S559T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 120205 chr6 7583703 7583703 G A rs41302885 DSP Nonsynonymous SNV D1471N 0.003 0.016 0 0 4 6 0 0 0 0 0 0 Benign/Likely benign 33 120206 chr9 133760153 133760153 C T rs140320313 ABL1 Nonsynonymous SNV P826S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 120207 chr17 39115049 39115049 C T rs143643076 KRT39 Nonsynonymous SNV G427E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.029 120208 chr17 26919804 26919804 G A rs772262295 SPAG5 Nonsynonymous SNV A153V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.943 120209 chr6 17773785 17773785 A G rs778884124 KIF13A Synonymous SNV S1403S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.75 120210 chr5 133655131 133655131 - C rs750507844 CDKL3 Frameshift insertion V48Gfs*20 0.002 0 0 0 2 0 0 0 0 0 0 0 120211 chr17 29631362 29631362 C G EVI2B Nonsynonymous SNV Q422H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 120212 chr18 31326046 31326046 T C rs758198445 ASXL3 Synonymous SNV N2078N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.751 120213 chr6 24667074 24667074 C A rs61760186 TDP2 Nonsynonymous SNV C6F 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 Likely benign 10.6 120214 chr9 136198859 136198859 G A rs1800867 SURF6 Nonsynonymous SNV T311M 0.009 0.008 0.003 0 10 3 0 1 0 0 0 0 27 120215 chr18 33726335 33726335 A T rs34161623 ELP2 Synonymous SNV T302T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.025 120216 chr17 39458109 39458109 T C rs1037427345 KRTAP29-1 Nonsynonymous SNV E332G 0.003 0 0 0 4 0 0 0 0 0 0 0 1.279 120217 chr18 33783115 33783115 G A rs35497696 MOCOS Synonymous SNV A327A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.082 120218 chr6 25921416 25921416 G A rs145380839 SLC17A2 Synonymous SNV G155G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 120219 chr6 26104355 26104355 G A rs77229316 H4C3 Synonymous SNV K60K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.81 120220 chr9 137742449 137742449 G A rs71483240 MIR3689E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.124 120221 chr15 56386356 56386356 T C rs747438438 RFX7 Synonymous SNV R1093R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.267 120222 chr18 46690066 46690066 G A rs145279594 DYM Synonymous SNV L517L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.79 120223 chr17 33881695 33881695 G A rs368922921 SLFN14 Synonymous SNV N363N 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 4.329 120224 chr9 139272339 139272339 G A rs144874677 SNAPC4 Synonymous SNV L1314L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 120225 chr17 39671917 39671917 C G rs79344504 KRT15 Nonsynonymous SNV E352Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 120226 chr9 139302358 139302358 G T rs746917048 ENTR1 Nonsynonymous SNV P35T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 120227 chr17 39871804 39871804 A G rs140947135 GAST Nonsynonymous SNV N39S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.618 120228 chr15 63017267 63017267 C T rs143630932 TLN2 Synonymous SNV A1073A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.1 120229 chr9 139417634 139417634 G A rs749786734 NOTCH1 Nonsynonymous SNV S137L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 120230 chr9 139620966 139620966 C T rs11145848 SNHG7 0 0 0.01 0 0 0 0 3 0 0 0 0 5.082 120231 chr17 35454851 35454851 G A rs148586245 ACACA Synonymous SNV L2117L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.73 120232 chr17 40312264 40312264 C G rs769956090 KCNH4 Nonsynonymous SNV D950H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 120233 chr9 139749538 139749538 C T MAMDC4 Synonymous SNV D391D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 120234 chr17 41244714 41244714 C G rs746727823 BRCA1 Nonsynonymous SNV S898T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.56 120235 chr17 36718343 36718343 C A SRCIN1 Synonymous SNV L352L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.41 120236 chr17 41352278 41352278 T G rs145416378 NBR1 Nonsynonymous SNV D686E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 0.069 120237 chr9 139906395 139906395 G A rs542124387 ABCA2 Synonymous SNV V1812V 0 0 0.01 0 0 0 0 3 0 0 0 0 4.864 120238 chr15 65944028 65944028 T C SLC24A1 Synonymous SNV V265V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.719 120239 chr9 140000642 140000642 C T rs547717906 MAN1B1 Synonymous SNV P440P 0 0 0.007 0 0 0 0 2 0 0 0 0 15.16 120240 chr9 140077597 140077597 C T rs145461085 ANAPC2 Synonymous SNV E422E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 15.31 120241 chr18 56338841 56338841 G A rs545006385 LOC101927322 Nonsynonymous SNV P13S 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Uncertain significance 8.271 120242 chr15 74474761 74474761 C T rs368073018 STRA6 Synonymous SNV T447T 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 Uncertain significance 18.12 120243 chr17 42463006 42463006 A G rs141497408 ITGA2B Synonymous SNV L163L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 0.073 120244 chr17 42745254 42745254 C A rs148051553 MEIOC Nonsynonymous SNV R659S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 22.8 120245 chr15 72069651 72069651 G A rs757453226 THSD4 Nonsynonymous SNV A639T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 120246 chr17 44111565 44111565 G A rs149756887 KANSL1 Synonymous SNV R876R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.55 120247 chr15 74000747 74000747 A G rs149679033 CD276 Synonymous SNV A261A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.763 120248 chr15 74337260 74337260 T C rs781458512 PML Synonymous SNV L854L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 120249 chr15 74703927 74703927 C A rs530718355 SEMA7A Nonsynonymous SNV G502V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 120250 chr15 79748573 79748573 G A rs61731598 MINAR1 Synonymous SNV Q28Q 0.008 0.005 0.014 3 9 2 0.008 4 0 0 0 0 Benign 6.537 120251 chr6 43523604 43523604 T C rs201064427 XPO5 Synonymous SNV L470L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.408 120252 chr17 39156086 39156086 C T rs773618884 KRTAP3-2 Nonsynonymous SNV R7H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.957 120253 chr15 75809649 75809649 T A rs371548349 PTPN9 Nonsynonymous SNV Y160F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 120254 chr15 77406854 77406854 G C rs759284644 PEAK1 Nonsynonymous SNV P1629A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 120255 chr9 24545606 24545606 G A rs779684724 IZUMO3 Synonymous SNV A14A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 120256 chr15 83357221 83357221 C T rs760437341 AP3B2 Nonsynonymous SNV M130I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.2 120257 chr18 7049171 7049171 C T rs140718292 LAMA1 Nonsynonymous SNV R225H 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 Benign 35 120258 chr9 2647579 2647579 C T rs6147 VLDLR Synonymous SNV N562N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.37 120259 chr15 83735896 83735896 G C BTBD1 Stop gain S3X 0 0.003 0 0 0 1 0 0 0 0 0 0 32 120260 chr15 85147389 85147389 C T rs34014678 ZSCAN2 Synonymous SNV L77L 0.002 0.026 0.007 5 2 10 0.013 2 0 0 0 0 9.592 120261 chr17 47007920 47007920 C T rs779295248 SNF8 Nonsynonymous SNV A215T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 120262 chr18 74153653 74153653 C T rs374045343 ZNF516 Nonsynonymous SNV R453K 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 3.947 120263 chr15 85411633 85411633 G A rs115813516 ALPK3 Synonymous SNV L1688L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 6.975 120264 chr15 79749091 79749091 A G rs147845474 MINAR1 Nonsynonymous SNV Y201C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 120265 chr17 47300021 47300021 G A rs200202572 ABI3 Nonsynonymous SNV V343I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 120266 chr6 51612843 51612843 T G rs372102850 PKHD1 Nonsynonymous SNV N3191H 0.013 0.008 0 2 15 3 0.005 0 0 0 0 0 Uncertain significance 0.001 120267 chr6 36168750 36168750 G A rs376016984 BRPF3 Synonymous SNV V217V 0 0 0 2 0 0 0.005 0 0 0 0 0 2.38 120268 chr15 87097700 87097700 G C rs147523021 AGBL1 Nonsynonymous SNV E976Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.9 120269 chr17 40272264 40272264 C T rs143037960 KAT2A Synonymous SNV Q196Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.415 120270 chr17 40693188 40693188 G A rs765774149 NAGLU Nonsynonymous SNV A329T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.54 120271 chr9 3937040 3937040 C T rs369977938 GLIS3 Synonymous SNV T465T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 120272 chr9 4622472 4622472 C A rs149602504 SPATA6L Nonsynonymous SNV E145D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 7.224 120273 chr17 41166271 41166271 C T rs143878487 IFI35 Synonymous SNV P272P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.75 120274 chr9 5185581 5185581 A T rs144087410 INSL6 Nonsynonymous SNV S8T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.003 120275 chr17 41347021 41347021 A C NBR1 Nonsynonymous SNV Q551P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 120276 chr17 48827903 48827903 G A rs370919781 LUC7L3 Nonsynonymous SNV G394S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 120277 chr17 41957292 41957292 C T rs770256368 MPP2 Nonsynonymous SNV R393H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 120278 chr9 6014718 6014718 G A RANBP6 Nonsynonymous SNV T297I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 120279 chr6 41248805 41248805 - T rs746326708 TREM1 Frameshift insertion L165Tfs*23 0.001 0 0 2 1 0 0.005 0 0 0 0 0 120280 chr6 41248810 41248810 C A rs201082267 TREM1 Nonsynonymous SNV C163F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.694 120281 chr17 51901651 51901651 C T rs148923659 KIF2B Synonymous SNV N419N 0.005 0.008 0.014 2 6 3 0.005 4 0 0 0 0 1.564 120282 chr17 5342335 5342335 C T rs1001036395 C1QBP Nonsynonymous SNV R20H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 120283 chr17 54576330 54576330 A G rs1011009200 ANKFN1 Nonsynonymous SNV I771V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 19.37 120284 chr6 74331619 74331619 C T rs16883930 SLC17A5 Nonsynonymous SNV V296I 0.014 0.013 0.02 5 17 5 0.013 6 0 0 0 0 Benign/Likely benign 14.98 120285 chr17 42990697 42990697 C A rs2229012 GFAP Synonymous SNV T240T 0.003 0.01 0 0 3 4 0 0 0 0 0 0 Benign 13.65 120286 chr17 56284504 56284504 A G rs200865108 MKS1 Nonsynonymous SNV I247T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 120287 chr15 89659639 89659639 C T rs61753540 ABHD2 Synonymous SNV Y27Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 120288 chr15 89734320 89734320 C T rs111401789 ABHD2 Synonymous SNV H312H 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 Benign 14.1 120289 chr15 89811742 89811742 G A rs113772230 FANCI Nonsynonymous SNV V290M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.427 120290 chr15 89819943 89819943 G A rs76788798 FANCI Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.8 120291 chr17 4455911 4455911 G A rs138754898 MYBBP1A Nonsynonymous SNV A191V 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 10.92 120292 chr17 57647904 57647904 T C DHX40 Synonymous SNV G102G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.455 120293 chr15 91479185 91479185 G A rs201273337 UNC45A Nonsynonymous SNV D60N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.17 120294 chr9 79930286 79930286 C T rs746350172 VPS13A Synonymous SNV S1471S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 120295 chr6 43970503 43970503 - GCG rs778896183 C6orf223 0.003 0.003 0.003 2 4 1 0.005 1 1 0 0 0 120296 chr9 86554482 86554482 G A rs145133489 C9orf64 Nonsynonymous SNV H324Y 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 22.6 120297 chr9 88292393 88292393 T C rs375826886 AGTPBP1 Nonsynonymous SNV M184V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 120298 chr9 90343561 90343561 G A rs201186758 CTSL Nonsynonymous SNV R153Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 120299 chr15 90628537 90628537 G A rs11540478 IDH2 Synonymous SNV T220T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 6.499 120300 chr9 94949028 94949028 C G rs117210051 PRSS47 Nonsynonymous SNV K206N 0 0 0.02 0 0 0 0 6 0 0 1 0 4.694 120301 chr9 95380811 95380811 G - rs374257924 LOC100128361 0 0 0.003 0 0 0 0 1 0 0 0 0 120302 chr9 95380817 95380817 C T rs184462941 LOC100128361 0 0 0.003 0 0 0 0 1 0 0 0 0 3.29 120303 chr6 97345638 97345638 G T rs145392673 NDUFAF4 Nonsynonymous SNV L14I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 0.002 120304 chr19 11917472 11917472 G A ZNF491 Nonsynonymous SNV R235K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.01 120305 chr9 95599345 95599345 - A rs141432906 ANKRD19P 0 0 0.027 0 0 0 0 8 0 0 0 0 120306 chr17 62533810 62533810 T C rs202192133 CEP95 Synonymous SNV D629D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.719 120307 chr9 96021388 96021388 C A rs755076404 WNK2 Nonsynonymous SNV A853D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 120308 chr17 6348648 6348648 A G rs985923035 PIMREG Nonsynonymous SNV E73G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 120309 chr19 1257022 1257022 C T rs548879749 MIDN Synonymous SNV R386R 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 17.1 120310 chr19 13342588 13342588 C T rs267605294 CACNA1A Nonsynonymous SNV R1780Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 18.96 120311 chr6 107019978 107019978 T C RTN4IP1 Nonsynonymous SNV I262V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.02 120312 chrUn_gl000220 118144 118144 - C RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.014 0 0 0 0 4 0 0 0 0 120313 chr6 3751691 3751691 G A rs377211810 PXDC1 Synonymous SNV R25R 0.003 0 0 0 4 0 0 0 0 0 0 0 19.2 120314 chr6 4069441 4069442 AA - rs757737319 FAM217A L339Efs*9 0.003 0 0 0 4 0 0 0 0 0 0 0 120315 chr16 14723511 14723511 T C rs753010781 PARN Nonsynonymous SNV K14E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.06 120316 chr16 109330 109330 A G rs60491225 RHBDF1 Synonymous SNV D637D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.051 120317 chrX 103499113 103499113 A G rs372065561 ESX1 Synonymous SNV G76G 0.002 0 0.01 1 2 0 0.003 3 1 0 1 0 9.959 120318 chr17 6716326 6716326 C T rs943371729 TEKT1 Nonsynonymous SNV E226K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 120319 chr17 53158453 53158453 A G rs34367861 STXBP4 Synonymous SNV P466P 0.009 0.005 0 6 11 2 0.015 0 1 0 0 0 0.002 120320 chr17 67257281 67257281 C T rs78349182 ABCA5 Synonymous SNV L1183L 0.035 0.029 0.031 10 41 11 0.026 9 0 0 0 0 12.6 120321 chr17 4720037 4720037 C T rs200019208 PLD2 Synonymous SNV F526F 0.008 0.005 0 3 9 2 0.008 0 1 0 0 0 11.4 120322 chr6 111695863 111695863 T A rs146748044 REV3L Nonsynonymous SNV K1232I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 23.5 120323 chr16 1570294 1570294 G A rs146172074 IFT140 Synonymous SNV F1237F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 7.077 120324 chr17 57232365 57232365 G A rs77282282 SKA2 Nonsynonymous SNV P27L 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 16.65 120325 chrX 135426812 135426812 A T rs764915195 ADGRG4 Nonsynonymous SNV D316V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 120326 chr19 15490978 15490978 G A rs752012911 AKAP8L Synonymous SNV G571G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.89 120327 chr17 58137346 58137346 C T rs751173580 HEATR6 Nonsynonymous SNV V510I 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 23 120328 chr19 15541855 15541855 T C rs72994098 WIZ Nonsynonymous SNV H39R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 15.4 120329 chrX 13681057 13681057 T C rs7061978 TCEANC Synonymous SNV L144L 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.003 120330 chrX 139047595 139047595 T C rs755182392 CXorf66 Nonsynonymous SNV N21D 0 0 0.007 0 0 0 0 2 0 0 0 0 15.85 120331 chrX 142718607 142718607 G A rs41310466 SLITRK4 Synonymous SNV L106L 0 0.005 0.01 2 0 2 0.005 3 0 1 1 0 0.356 120332 chr17 51064725 51064725 A G rs756698100 C17orf112 0.009 0.003 0 0 10 1 0 0 2 0 0 0 10.49 120333 chr17 6331817 6331817 C T rs62619924 AIPL1 Nonsynonymous SNV V36I 0.009 0.01 0.003 5 10 4 0.013 1 0 0 0 0 Benign/Likely benign 19.51 120334 chr16 1826153 1826153 C T rs751607323 EME2 Nonsynonymous SNV R352C 0.001 0 0 0 1 0 0 0 0 0 0 0 27 120335 chr17 73269755 73269755 C T rs201484612 LOC100287042 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.226 120336 chrX 153171729 153171729 G A rs143480277 AVPR2 Nonsynonymous SNV G257S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 120337 chr6 27420507 27420507 T C ZNF184 Synonymous SNV P277P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.991 120338 chrX 153695959 153695959 G A rs142993803 PLXNA3 Synonymous SNV P1171P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.188 120339 chr16 27226254 27226254 G A rs375385624 KDM8 Synonymous SNV S279S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 120340 chrX 18926137 18926137 C T rs777119197 PHKA2 Nonsynonymous SNV G800R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 120341 chr16 2819119 2819121 TCC - rs531076704 SRRM2 S2648del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 120342 chrX 23748937 23748937 C T rs375503606 ACOT9 Nonsynonymous SNV V51I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 120343 chr17 73897982 73897982 G A rs140938525 MRPL38 Synonymous SNV A134A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.584 120344 chr16 2050149 2050149 C G rs749459584 ZNF598 Nonsynonymous SNV L467F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 120345 chr6 144508604 144508604 C T STX11 Synonymous SNV C280C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.193 120346 chr17 67081852 67081852 T C ABCA6 Nonsynonymous SNV I1315V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.917 120347 chr17 61558956 61558956 G T rs61738840 ACE Synonymous SNV V325V 0.012 0.01 0.007 5 14 4 0.013 2 0 0 0 0 Benign 11.85 120348 chr16 29842219 29842219 G A rs560872333 MVP Nonsynonymous SNV R49H 0 0.008 0 1 0 3 0.003 0 0 0 0 0 20.9 120349 chr16 29922409 29922409 C A KCTD13 Nonsynonymous SNV D215Y 0 0.008 0 1 0 3 0.003 0 0 0 0 0 34 120350 chr16 2288007 2288007 G C DNASE1L2 Synonymous SNV L277L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.443 120351 chr16 3050725 3050725 G A LOC101929613 0 0.003 0 0 0 1 0 0 0 0 0 0 1.294 120352 chr16 30715554 30715554 G C rs751863851 SRCAP Nonsynonymous SNV S75T 0 0.008 0 1 0 3 0.003 0 0 0 0 0 8.894 120353 chr17 641146 641146 C T rs199542842 TLCD3A Synonymous SNV Y89Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.38 120354 chr16 24920301 24920301 C T rs558831961 SLC5A11 Nonsynonymous SNV R442C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.7 120355 chr17 6511705 6511705 T C rs778485219 KIAA0753 Nonsynonymous SNV S299G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.017 120356 chrX 63564952 63564952 G A rs200859818 MTMR8 Nonsynonymous SNV R280W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 120357 chrX 63579302 63579302 C T rs184524117 MTMR8 Nonsynonymous SNV A44T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 120358 chrX 65423217 65423217 A C rs34562897 HEPH Nonsynonymous SNV I508L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 120359 chr17 7221197 7221197 C T rs118077107 NEURL4 Nonsynonymous SNV R1370Q 0.008 0.008 0.017 4 9 3 0.01 5 0 0 0 0 24.2 120360 chr16 28508611 28508611 C T rs373501726 APOBR Nonsynonymous SNV P750L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.188 120361 chr6 42980311 42980311 G A rs142191404 MEA1 Nonsynonymous SNV A139V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25 120362 chr17 76496566 76496566 G A rs547546283 DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 120363 chr6 152679594 152679594 A G rs62426382 SYNE1 Synonymous SNV L3515L 0.006 0.023 0.003 3 7 9 0.008 1 0 0 0 0 Benign/Likely benign 15.59 120364 chr16 3297100 3297100 G A rs76464258 MEFV Synonymous SNV R290R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 4.387 120365 chrX 70644043 70644043 C T rs142496099 TAF1 Synonymous SNV L1570L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.71 120366 chr16 3299468 3299468 C T rs11466024 MEFV Nonsynonymous SNV R197Q 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.871 120367 chr16 3299586 3299586 G A rs11466023 MEFV Nonsynonymous SNV P158S 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.64 120368 chr6 43501663 43501663 C T rs61748655 XPO5 Synonymous SNV A808A 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 Benign 16.11 120369 chr16 331867 331867 C T rs149498191 ARHGDIG Synonymous SNV D65D 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 9.219 120370 chrX 73067239 73067239 - T rs748433893 XIST 0 0 0.014 0 0 0 0 4 0 0 0 0 120371 chr16 3349432 3349432 T A rs145207288 TIGD7 Nonsynonymous SNV I395L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.681 120372 chr16 3433550 3433550 T C rs762707154 ZSCAN32 Nonsynonymous SNV R177G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.21 120373 chr16 347063 347063 C T rs117208012 AXIN1 Nonsynonymous SNV G650S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 3.544 120374 chr6 159184492 159184492 C A rs757822377 SYTL3 Synonymous SNV A352A 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 10.6 120375 chr16 3823850 3823850 C T rs746728741 CREBBP Nonsynonymous SNV A751T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.727 120376 chr16 3100088 3100088 G A rs148613771 MMP25 Nonsynonymous SNV R104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 120377 chr16 31123320 31123320 A T rs142542453 BCKDK Nonsynonymous SNV S326C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 120378 chr10 101090246 101090246 G A rs144944413 CNNM1 Nonsynonymous SNV A368T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 26.3 120379 chr16 311506 311506 G A rs73486203 FAM234A Nonsynonymous SNV R234Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 7.619 120380 chr17 7366184 7366184 C G ZBTB4 Nonsynonymous SNV S706T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.003 120381 chr17 78319019 78319019 G A rs754162143 RNF213 Nonsynonymous SNV R2295Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 120382 chr16 31382999 31382999 G A rs146647978 ITGAX Nonsynonymous SNV R685H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 120383 chr16 4644481 4644481 C T rs375628569 C16orf96 Synonymous SNV Y999Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.867 120384 chr6 160998190 160998190 T C rs754417184 LPA Nonsynonymous SNV T1537A 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 20.2 120385 chr17 74006449 74006449 C T EVPL Nonsynonymous SNV R968K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.73 120386 chr6 167356530 167356530 C T rs540010690 RNASET2 Synonymous SNV S103S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 120387 chr16 5046417 5046417 C T rs141961295 SEC14L5 Synonymous SNV L246L 0.012 0.01 0.007 5 14 4 0.013 2 0 0 0 0 15.72 120388 chr6 168445528 168445528 T C rs752334712 KIF25 Nonsynonymous SNV V284A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 120389 chr10 106014706 106014706 G A rs72559704 GSTO1 Nonsynonymous SNV R7K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.094 120390 chr10 108338917 108338917 T C rs11192966 SORCS1 Nonsynonymous SNV N1155S 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 0.028 120391 chr16 48158159 48158159 C T ABCC12 Nonsynonymous SNV G518R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 120392 chr6 152129063 152129063 C T rs139960913 ESR1 Nonsynonymous SNV H6Y 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Likely benign 22.9 120393 chr10 115406712 115406712 G A rs776936445 NRAP Synonymous SNV N321N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 120394 chr17 77808133 77808133 G A rs62075209 CBX4 Synonymous SNV P436P 0.014 0.005 0.007 4 16 2 0.01 2 0 0 0 0 6.324 120395 chr17 77808595 77808595 G A rs143213467 CBX4 Synonymous SNV G282G 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 8.253 120396 chr17 8197901 8197901 C T rs144042654 SLC25A35 Synonymous SNV L75L 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 9.217 120397 chr10 119774577 119774577 G A rs141500760 RAB11FIP2 Nonsynonymous SNV P437L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 20.3 120398 chr19 3551125 3551125 C T rs61733854 MFSD12 Synonymous SNV T113T 0.004 0 0 0 5 0 0 0 0 0 0 0 13.78 120399 chr10 121556362 121556362 G A INPP5F Nonsynonymous SNV V269I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 120400 chr10 121556387 121556387 T C INPP5F Nonsynonymous SNV L277P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 120401 chr17 7486558 7486558 G A LOC100996842 Synonymous SNV A22A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.351 120402 chr18 12274266 12274266 C T rs200322058 CIDEA Synonymous SNV L169L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.23 120403 chr6 88066067 88066067 G T rs373869435 C6orf163 Stop gain E134X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 120404 chr6 88411244 88411244 A T rs139451080 AKIRIN2 Synonymous SNV A53A 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 0.015 120405 chr16 68224911 68224911 T C rs760892762 NFATC3 Nonsynonymous SNV M780T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.379 120406 chr17 7989346 7989346 G A rs397514526 ALOX12B Nonsynonymous SNV R114W 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Pathogenic 34 120407 chr16 58075531 58075531 C T rs771141615 MMP15 Synonymous SNV D307D 0.006 0 0 0 7 0 0 0 0 0 0 0 10.79 120408 chr17 80038034 80038034 C T rs561844046 FASN Synonymous SNV T2376T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 120409 chr6 90340356 90340367 CTGATCAGCAGG - rs537834165 ANKRD6 D543_A546del 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 120410 chr6 161010635 161010635 G A rs201133663 LPA Synonymous SNV S1299S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.553 120411 chr16 65025762 65025762 G A rs200272504 CDH11 Synonymous SNV D114D 0.004 0 0.007 0 5 0 0 2 0 0 0 0 11.55 120412 chr17 80526073 80526073 C T rs914896269 FOXK2 Nonsynonymous SNV P253L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 120413 chr19 3661916 3661916 G A rs115136413 PIP5K1C Synonymous SNV D101D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 5.766 120414 chr17 7663119 7663119 C T rs118057786 DNAH2 Nonsynonymous SNV S883L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign/Likely benign 25.4 120415 chr17 7668855 7668855 T C rs369805598 DNAH2 Synonymous SNV H1161H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 120416 chr7 11630103 11630103 G A rs746548102 THSD7A Synonymous SNV T479T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 2.041 120417 chr6 169639481 169639481 C G rs372435848 LOC101929523 0 0 0 1 0 0 0.003 0 0 0 0 0 4.157 120418 chr18 28989501 28989501 G A rs764987570 DSG4 Nonsynonymous SNV G674R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 120419 chr6 170058135 170058135 G A rs145675221 WDR27 Synonymous SNV C402C 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 3.427 120420 chr7 16502369 16502369 C A SOSTDC1 Nonsynonymous SNV R142I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 32 120421 chr7 17922560 17922560 C T SNX13 Synonymous SNV S149S 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 5.347 120422 chr16 72164240 72164240 G C rs144092086 PMFBP1 Nonsynonymous SNV L552V 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 19.68 120423 chr16 72170469 72170469 G A rs147286664 PMFBP1 Nonsynonymous SNV R361W 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 25.7 120424 chr17 8792028 8792028 A G rs141086831 PIK3R5 Nonsynonymous SNV L359S 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.36 120425 chr18 31538224 31538224 G A rs145804474 NOL4 Synonymous SNV A120A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.431 120426 chr10 134699363 134699363 G A rs779731091 CFAP46 Synonymous SNV D1135D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.012 120427 chr16 75590122 75590122 G A rs138060715 TMEM231 Synonymous SNV A16A 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 Likely benign 8.51 120428 chr16 77323284 77323284 C T rs931030783 ADAMTS18 Nonsynonymous SNV V971I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.9 120429 chr16 77359779 77359779 G C rs750366825 ADAMTS18 Synonymous SNV P500P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.268 120430 chr17 78919555 78919555 C T rs373527459 RPTOR Synonymous SNV I880I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.3 120431 chr18 19203761 19203761 G A SNRPD1 Synonymous SNV K48K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 120432 chr18 19780721 19780721 G C rs149569288 GATA6 Nonsynonymous SNV A575P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 20.3 120433 chr10 135278229 135278229 A G rs139677244 SCART1 0 0 0.007 0 0 0 0 2 0 0 0 0 8.813 120434 chr16 80646529 80646529 G A rs148183173 CDYL2 Synonymous SNV V404V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.19 120435 chr16 72828279 72828279 T A rs145956102 ZFHX3 Nonsynonymous SNV T1854S 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 8.799 120436 chr16 81030963 81030963 C T rs756529549 CMC2 Nonsynonymous SNV E47K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 120437 chr16 72830284 72830284 C T rs536413540 ZFHX3 Synonymous SNV P1185P 0.003 0 0 0 4 0 0 0 0 0 0 0 10.24 120438 chr7 36397182 36397182 C T rs368436001 KIAA0895 Nonsynonymous SNV E15K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 120439 chr19 4168364 4168364 - G rs780374391 CREB3L3 Frameshift insertion K244Efs*130 0.003 0 0 0 4 0 0 0 0 0 0 0 120440 chr19 4168371 4168371 A T rs144487760 CREB3L3 Nonsynonymous SNV K245N 0.003 0 0 0 4 0 0 0 0 0 0 0 25.1 120441 chr10 27827015 27827015 A G rs765179831 RAB18 Nonsynonymous SNV R197G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.69 120442 chr19 4175127 4175127 C T rs139762437 SIRT6 Synonymous SNV T113T 0.003 0 0 0 4 0 0 0 0 0 0 0 12.19 120443 chr7 39991306 39991306 C G rs17537669 CDK13 Nonsynonymous SNV P356A 0.005 0.008 0.007 6 6 3 0.015 2 0 0 0 0 Benign/Likely benign 9.211 120444 chr16 84883063 84883063 C A rs138500867 CRISPLD2 Nonsynonymous SNV S144R 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Likely benign 23.1 120445 chr18 56585736 56585736 T C ZNF532 Nonsynonymous SNV S73P 0.003 0 0 0 4 0 0 0 0 0 0 0 14.11 120446 chr10 30998371 30998371 T C rs12258064 SVIL2P 0 0 0.014 0 0 0 0 4 0 0 0 0 0.035 120447 chr18 57103282 57103282 C T rs200219373 CCBE1 Nonsynonymous SNV R360Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 23.5 120448 chr16 87367708 87367708 C T rs34412175 FBXO31 Nonsynonymous SNV R394Q 0.013 0.008 0.007 1 15 3 0.003 2 0 0 0 0 Benign/Likely benign 1.915 120449 chr18 5891373 5891399 GGCGGCGGCGGCCGCGGCGGCGGCCGC - rs763835824 TMEM200C A222_A230del 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 120450 chr17 80540799 80540799 G C rs75410314 FOXK2 Synonymous SNV P364P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.52 120451 chr7 44144284 44144284 C A rs28362521 AEBP1 Nonsynonymous SNV A7E 0.014 0.018 0.014 7 17 7 0.018 4 0 0 0 0 25.3 120452 chr7 44246054 44246054 A G YKT6 Synonymous SNV P86P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.62 120453 chr17 8660689 8660689 G A rs116851053 SPDYE4 Synonymous SNV P77P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 8.715 120454 chr19 42569504 42569504 C G GRIK5 Nonsynonymous SNV G39R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 120455 chr17 9631418 9631418 C G rs201489336 USP43 Nonsynonymous SNV A823G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.675 120456 chr10 35896551 35896551 T C GJD4 Nonsynonymous SNV I37T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 21.5 120457 chr16 88600727 88600727 C G rs551773012 ZFPM1 Synonymous SNV P787P 0.005 0.021 0.014 1 6 8 0.003 4 0 0 0 0 10.61 120458 chr18 10794830 10794830 A G rs11875564 PIEZO2 Synonymous SNV P566P 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 5.212 120459 chr19 440874 440874 G A rs199803042 SHC2 Nonsynonymous SNV T176M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 120460 chr16 88747894 88747894 A G rs140441889 SNAI3 Nonsynonymous SNV I102T 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 10.72 120461 chr18 6964699 6964699 C T rs369306891 LAMA1 Synonymous SNV P2433P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.43 120462 chr16 85695167 85695167 C G GSE1 Nonsynonymous SNV L582V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.84 120463 chr16 86612388 86612388 T C rs151159060 FOXL1 Nonsynonymous SNV L20P 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 23.4 120464 chr18 5406848 5406848 A C rs147295760 EPB41L3 Synonymous SNV L578L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 0.071 120465 chr7 64292354 64292354 G A rs61737641 ZNF138 Nonsynonymous SNV R98H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.022 120466 chr18 56204842 56204842 T C rs140900189 ALPK2 Synonymous SNV T859T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.613 120467 chr18 2909817 2909817 G A rs775380987 EMILIN2 Nonsynonymous SNV G942R 0 0.005 0 0 0 2 0 0 0 0 0 0 28.4 120468 chr16 88782438 88782438 C G rs200291894 PIEZO1 Nonsynonymous SNV E2407Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.595 120469 chr10 50854687 50854687 C T rs116071049 CHAT Synonymous SNV N298N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.22 120470 chr10 50887827 50887827 G T rs144285786 C10orf53 Synonymous SNV L28L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 8.328 120471 chr7 73245993 73245993 C T rs782664208 CLDN4 Synonymous SNV S154S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.34 120472 chr10 5203865 5203865 G A rs61729616 AKR1C8P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.649 120473 chr19 10112454 10112454 G A rs150865244 COL5A3 Nonsynonymous SNV T318M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 120474 chr16 89294521 89294521 C G rs117628021 ZNF778 Nonsynonymous SNV R581G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.3 120475 chr16 89350068 89350068 C A rs750887042 ANKRD11 Nonsynonymous SNV R961L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 120476 chr10 6060023 6060023 G A rs140088691 IL2RA Nonsynonymous SNV R167W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.24 120477 chr18 67860636 67860636 G A RTTN Nonsynonymous SNV H299Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 120478 chr18 67871410 67871410 A G rs554154376 RTTN Synonymous SNV A103A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 9.579 120479 chr19 1053514 1053514 A G ABCA7 Nonsynonymous SNV D1136G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 120480 chr18 72775783 72775783 G A rs371814141 ZNF407 Nonsynonymous SNV E2036K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.72 120481 chr17 1559743 1559743 G A rs746713240 PRPF8 Synonymous SNV P1912P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.87 120482 chr19 46522881 46522881 G C rs141970061 PGLYRP1 Synonymous SNV L104L 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.045 120483 chr10 65225359 65225359 C T rs770258446 JMJD1C Nonsynonymous SNV E22K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 120484 chr7 91622303 91622303 G C rs144888041 AKAP9 Nonsynonymous SNV E170D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.1 120485 chr18 5398077 5398077 C T EPB41L3 Synonymous SNV A636A 0 0.005 0 0 0 2 0 0 0 0 0 0 14.23 120486 chr18 55020137 55020137 C T rs117278015 ST8SIA3 Synonymous SNV V20V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.82 120487 chr18 77895408 77895408 G A rs35954328 ADNP2 Synonymous SNV P704P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 120488 chr7 93065339 93065339 G C rs201556343 CALCR Synonymous SNV V358V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.801 120489 chr19 11728466 11728466 G A rs200951816 ZNF627 Nonsynonymous SNV R273K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 120490 chr7 99129402 99129402 A T ZKSCAN5 Nonsynonymous SNV M611L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.84 120491 chr18 56620751 56620751 C T ZNF532 Nonsynonymous SNV S783F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 120492 chr17 1564381 1564381 T C PRPF8 Nonsynonymous SNV T1472A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 120493 chr7 100161557 100161557 G A rs35771030 AGFG2 Synonymous SNV P424P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.036 120494 chr19 12576250 12576250 G A ZNF709 Synonymous SNV H162H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.109 120495 chr7 100218714 100218714 T C rs141140309 TFR2 Synonymous SNV P553P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.875 120496 chr19 12868805 12868805 A G rs150419376 BEST2 Nonsynonymous SNV S482G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.06 120497 chr19 49183707 49183707 C T rs3826847 SEC1P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 120498 chr7 75513154 75513154 C T rs781811469 RHBDD2 Nonsynonymous SNV A106V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 15.3 120499 chr17 17740040 17740040 C G SREBF1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 120500 chr10 7683989 7683989 G A rs765321981 ITIH5 Nonsynonymous SNV T67I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 120501 chr19 10431495 10431495 G A rs757777173 RAVER1 Nonsynonymous SNV R536C 0.002 0 0 0 2 0 0 0 0 0 0 0 26 120502 chr19 14104392 14104392 G A rs148365597 RFX1 Synonymous SNV T88T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.482 120503 chr19 14554346 14554346 G A rs2161287 PKN1 Synonymous SNV A129A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 15.41 120504 chr17 18675802 18675802 C T rs150329747 FBXW10 Nonsynonymous SNV T642M 0.009 0.013 0.01 3 11 5 0.008 3 0 0 0 0 3.003 120505 chr7 100550325 100550325 A G rs75788887 MUC3A Synonymous SNV E302E 0.019 0.018 0 4 22 7 0.01 0 0 0 0 0 0.536 120506 chr19 14749056 14749056 G A rs149794291 ADGRE3 Nonsynonymous SNV R323W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 120507 chr7 6692607 6692607 G A rs536588168 ZNF316 Synonymous SNV S460S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.353 120508 chr17 20108880 20108880 A G rs370389125 SPECC1 Synonymous SNV L425L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.177 120509 chr18 7049166 7049166 G A rs574925348 LAMA1 Nonsynonymous SNV R227C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 120510 chr10 88702370 88702370 - CGGCCC rs766938013 MMRN2 A723_A724insGA 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 120511 chr17 2270691 2270691 C T rs201474576 SGSM2 Nonsynonymous SNV P472L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 120512 chr7 19184954 19184954 G A rs767978345 FERD3L Nonsynonymous SNV T11I 0.003 0 0 0 4 0 0 0 0 0 0 0 23.3 120513 chr7 21627720 21627720 T A rs368294823 DNAH11 Synonymous SNV V583V 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.83 120514 chr19 14000248 14000248 C T rs144452246 C19orf57 Nonsynonymous SNV R356H 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 120515 chr19 14029744 14029744 G A CC2D1A Synonymous SNV R346R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 120516 chr19 16198849 16198849 C G rs753766561 TPM4 Nonsynonymous SNV L133V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 120517 chr10 96535264 96535264 G A rs58973490 CYP2C19 Nonsynonymous SNV R150H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 no interpretation for the single variant 5.725 120518 chr18 9577127 9577127 G C PPP4R1 Nonsynonymous SNV S327R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.49 120519 chr19 14862247 14862247 C T rs142522626 ADGRE2 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 19.27 120520 chr17 263387 263387 T C rs34825436 C17orf97 Synonymous SNV A251A 0.008 0.01 0 0 9 4 0 0 1 1 0 0 2.469 120521 chr17 26960761 26960761 A G rs150753528 KIAA0100 Nonsynonymous SNV F948L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.34 120522 chr17 33454388 33454388 G A rs150489315 FNDC8 Synonymous SNV P179P 0.003 0.016 0 4 4 6 0.01 0 0 0 0 0 7.101 120523 chr17 3195403 3195403 G A rs752671269 OR3A1 Synonymous SNV N158N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.746 120524 chr7 117292931 117292931 C G rs80034486 CFTR Nonsynonymous SNV N1303K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Pathogenic 27.9 120525 chr17 3372589 3372589 G A rs774490625 SPATA22 Stop gain R11X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 120526 chr17 33881771 33881773 AAA - LOC107985033 0.001 0 0 0 1 0 0 0 0 0 0 0 120527 chr19 1111078 1111078 G A rs758748563 SBNO2 Synonymous SNV L885L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.685 120528 chr19 17322899 17322899 C T rs55732173 MYO9B Nonsynonymous SNV P2085L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.565 120529 chr17 37071342 37071342 C T rs762410057 LASP1 Synonymous SNV G129G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.45 120530 chr19 11323858 11323858 G A rs76413309 DOCK6 Synonymous SNV I1495I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.13 120531 chr19 11325229 11325229 C T rs8110957 DOCK6 Synonymous SNV Q1401Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.09 120532 chr19 18778232 18778232 T G KLHL26 Synonymous SNV G96G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.519 120533 chr17 34252584 34252584 A - RDM1 S89Pfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 120534 chr19 11326148 11326148 - T rs142339683 DOCK6 0.001 0.005 0 0 1 2 0 0 0 0 0 0 120535 chr19 11332820 11332820 C T rs28481684 DOCK6 Synonymous SNV T1115T 0 0.005 0 0 0 2 0 0 0 0 0 0 12.56 120536 chr11 1017954 1017954 A G rs576873061 MUC6 Nonsynonymous SNV V1616A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 120537 chr19 11486514 11486514 A G rs317926 SWSAP1 Nonsynonymous SNV D192G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 8.912 120538 chr19 11685948 11685948 A G rs77911902 ACP5 Synonymous SNV T285T 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 1.55 120539 chr19 13218607 13218607 C T rs748357641 TRMT1 Synonymous SNV T459T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.24 120540 chr11 1030965 1030965 G A rs770214150 MUC6 Synonymous SNV H222H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.404 120541 chr19 13915703 13915703 G A rs201093465 ZSWIM4 Synonymous SNV T151T 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 11.98 120542 chr19 2210736 2210736 C T rs76375790 DOT1L Synonymous SNV R411R 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 13.77 120543 chr19 14076460 14076460 G A rs368862012 RFX1 Synonymous SNV P697P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.562 120544 chr7 136700726 136700726 C G rs138806839 CHRM2 Nonsynonymous SNV P372A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 7.282 120545 chr17 38122121 38122121 C T rs371824427 GSDMA Synonymous SNV L61L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.387 120546 chr11 1081090 1081090 C T rs61732120 MUC2 Synonymous SNV S462S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.272 120547 chr11 1083747 1083747 C G MUC2 Nonsynonymous SNV T760R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.245 120548 chr11 108383722 108383722 C T rs765871321 EXPH5 Nonsynonymous SNV E650K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.574 120549 chr19 19652041 19652041 G A CILP2 Nonsynonymous SNV R193Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.99 120550 chr11 111575791 111575791 T C SIK2 Synonymous SNV S343S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.718 120551 chr17 39646047 39646047 C T rs143124390 KRT36 Nonsynonymous SNV G24S 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 11.85 120552 chr19 15224679 15224679 G C SYDE1 Nonsynonymous SNV A638P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 120553 chr11 113078660 113078660 G A rs17115163 NCAM1 Synonymous SNV E284E 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 10.16 120554 chr11 113142572 113142572 C T rs200459186 NCAM1 Synonymous SNV N800N 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 18.55 120555 chr11 113146049 113146049 C T rs536434162 NCAM1 Synonymous SNV A829A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 120556 chr7 87908773 87908773 T A rs183185041 STEAP4 Synonymous SNV P264P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 120557 chr11 114393032 114393032 G A rs116712555 NXPE1 Synonymous SNV I292I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 120558 chr17 39915057 39915057 T C rs149926974 JUP Synonymous SNV A521A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.302 120559 chr11 114569367 114569367 A C NXPE2 Nonsynonymous SNV M245L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.227 120560 chr19 1620975 1620975 C T rs148928381 TCF3 Nonsynonymous SNV G362D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 25.2 120561 chr17 40947802 40947802 G C rs142406282 WNK4 Nonsynonymous SNV G725A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.12 120562 chr19 2433965 2433965 G A rs767447519 LMNB2 Synonymous SNV S447S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.436 120563 chr11 118343878 118343878 T G rs147102502 KMT2A Synonymous SNV S668S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.16 120564 chr17 39659064 39659064 T G rs779663494 KRT13 Nonsynonymous SNV S300R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 120565 chr11 119027691 119027691 C G rs12271907 ABCG4 Nonsynonymous SNV N345K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 120566 chr19 307145 307145 G A rs61743311 MIER2 Synonymous SNV P494P 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 13.3 120567 chr17 42337808 42337808 C T rs761306530 SLC4A1 Nonsynonymous SNV R150Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.3 120568 chr7 99719884 99719884 T G rs755760693 CNPY4 Nonsynonymous SNV C41G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 120569 chr19 36341311 36341311 T A rs145125791 NPHS1 Nonsynonymous SNV N188I 0.009 0.008 0 0 10 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.84 120570 chr11 120352081 120352081 C T rs35811219 ARHGEF12 Synonymous SNV S1431S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.37 120571 chr11 120690618 120690618 C G rs41297895 GRIK4 Nonsynonymous SNV A167G 0.008 0.01 0.014 1 9 4 0.003 4 0 0 1 0 Benign 23.1 120572 chr7 99997454 99997454 C T rs34266222 PILRA Nonsynonymous SNV S206L 0.004 0.021 0.007 5 5 8 0.013 2 0 0 0 0 1.333 120573 chr19 3651990 3651990 G A rs141889838 PIP5K1C Synonymous SNV L321L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.472 120574 chr7 100028757 100028757 G T rs148401918 MEPCE Synonymous SNV S372S 0.004 0.021 0.007 5 5 8 0.013 2 0 0 0 0 6.873 120575 chr19 36530250 36530250 C T rs746224359 THAP8 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 120576 chr7 150649542 150649542 G A rs75648145 KCNH2 Synonymous SNV L170L 0.004 0.005 0 8 5 2 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.743 120577 chr7 150710880 150710880 G C rs144040397 NOS3 Synonymous SNV R1108R 0.005 0.005 0.007 12 6 2 0.031 2 0 0 0 0 Benign 13.38 120578 chr17 43893915 43893915 G A rs774093576 CRHR1 Nonsynonymous SNV A70T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 21.5 120579 chr11 12316171 12316171 - A rs747467435 MICALCL Frameshift insertion S399Lfs*10 0 0 0.01 0 0 0 0 3 0 0 0 0 120580 chr19 3382165 3382165 G A rs764328299 NFIC Synonymous SNV L162L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.35 120581 chr19 17937615 17937615 C A rs758952279 JAK3 Synonymous SNV G1104G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.48 120582 chr19 34986613 34986613 C T rs61741583 WTIP Synonymous SNV C363C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.85 120583 chr19 18183110 18183110 G A rs201223132 IL12RB1 Nonsynonymous SNV T278M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 0.097 120584 chr19 3739001 3739001 C T rs56138006 TJP3 Synonymous SNV D500D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.83 120585 chr19 3754071 3754071 C A rs139904607 APBA3 Nonsynonymous SNV E265D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 120586 chr19 3759565 3759565 G C rs200666451 APBA3 Nonsynonymous SNV Q204E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.998 120587 chr17 45753845 45753845 T C rs149068819 KPNB1 Synonymous SNV Y516Y 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 3.971 120588 chr11 123814182 123814182 G A rs868745413 OR6T1 Nonsynonymous SNV R122C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 120589 chr7 155755892 155755892 C T rs576569231 LOC389602 Synonymous SNV D123D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.249 120590 chr19 38023259 38023259 - A rs778731114 ZNF793 Frameshift insertion P7Tfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 120591 chr7 155757367 155757367 C A rs546230766 LOC389602 Nonsynonymous SNV A223D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.462 120592 chr17 42335803 42335803 G A rs140406232 SLC4A1 Synonymous SNV D355D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.132 120593 chr19 18331302 18331302 A G rs754164808 PDE4C Synonymous SNV L175L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.15 120594 chr19 36018435 36018435 G A rs147913080 SBSN Nonsynonymous SNV A250V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.069 120595 chr19 36034151 36034151 C T rs73928225 TMEM147-AS1 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 7.101 120596 chr8 1513790 1513790 C G DLGAP2-AS1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.444 120597 chr8 1513960 1513960 G A rs757755202 DLGAP2 Nonsynonymous SNV G448R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 33 120598 chr19 18304123 18304123 G A rs186786292 MPV17L2 Nonsynonymous SNV R11H 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 not provided 14.89 120599 chr19 362262 362262 T C rs758106789 THEG Nonsynonymous SNV M336V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 120600 chr19 3907802 3907802 G A rs781683142 ATCAY Synonymous SNV T143T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.956 120601 chr19 6007045 6007045 G A rs78524264 RFX2 Synonymous SNV P435P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 14.06 120602 chr19 6007724 6007724 G A rs2288847 RFX2 Synonymous SNV D383D 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 2.384 120603 chr19 6008188 6008188 A C rs79564339 RFX2 Nonsynonymous SNV F330V 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.923 120604 chr19 19627076 19627076 T C rs150011367 NDUFA13 Nonsynonymous SNV M10T 0 0.005 0 0 0 2 0 0 0 0 0 0 24.2 120605 chr17 45913830 45913830 G A rs376286427 LRRC46 Nonsynonymous SNV C195Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.64 120606 chr7 100550399 100550399 G C rs776023456 MUC3A Nonsynonymous SNV R327T 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.002 120607 chr19 19765499 19765499 C T rs45522544 ATP13A1 Nonsynonymous SNV E556K 0.003 0.01 0.007 6 4 4 0.015 2 0 0 0 0 Benign 18.62 120608 chr19 39923942 39923942 G A RPS16 Nonsynonymous SNV R138C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 120609 chr11 124791213 124791213 C T rs536963649 HEPACAM Nonsynonymous SNV A358T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 120610 chr19 6733066 6733066 C T rs117917124 GPR108 Nonsynonymous SNV V289I 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 120611 chr19 36940622 36940622 C T rs117540494 ZNF566 Nonsynonymous SNV A68T 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 2.322 120612 chr17 48594718 48594718 G A rs146573039 MYCBPAP Nonsynonymous SNV R90H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 34 120613 chr19 40581579 40581579 G A rs151054195 ZNF780A Nonsynonymous SNV S257F 0.006 0.008 0.01 0 7 3 0 3 0 0 0 0 23.6 120614 chr19 40847779 40847779 T G C19orf47 Synonymous SNV R33R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.448 120615 chr17 46928955 46928955 A G CALCOCO2 Nonsynonymous SNV N181D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 120616 chr19 41012253 41012253 G T SPTBN4 Nonsynonymous SNV E592D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 120617 chr19 41858752 41858752 C T rs772095480 TGFB1 Synonymous SNV G66G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.87 120618 chr19 4186441 4186441 C T rs575865153 ANKRD24 Stop gain R7X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 120619 chr11 1262982 1262982 C G rs368529323 MUC5B Synonymous SNV T1624T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.305 120620 chr19 2251466 2251466 C T rs368933314 AMH Nonsynonymous SNV P398L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 120621 chr19 3754201 3754201 G A rs764194208 APBA3 Nonsynonymous SNV R252C 0.002 0 0 6 2 0 0.015 0 0 0 0 0 33 120622 chr19 37680948 37680948 G A rs147348232 ZNF585B Synonymous SNV T59T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.676 120623 chr11 1275506 1275506 C T rs781033372 MUC5B Synonymous SNV R5134R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 120624 chr11 128709869 128709869 G A rs775785177 KCNJ1 Synonymous SNV L109L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.344 120625 chr19 37854205 37854205 G T ZNF875 Nonsynonymous SNV G443V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.4 120626 chr19 42266092 42266092 G T rs146516997 CEACAM6 Nonsynonymous SNV G307C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 120627 chr19 38077532 38077532 T C rs183118267 ZNF571-AS1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.03 120628 chr11 129873082 129873082 G T LINC00167 0 0 0.003 0 0 0 0 1 0 0 0 0 7.953 120629 chr19 4280183 4280183 C T rs114622254 SHD Synonymous SNV D41D 0.007 0 0.003 0 8 0 0 1 0 0 0 0 11.33 120630 chr17 48632925 48632925 C T rs532426377 SPATA20 Nonsynonymous SNV R755W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 120631 chr19 8373164 8373164 C T rs2232774 CD320 Nonsynonymous SNV G4D 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 23.2 120632 chr19 38573053 38573053 C T rs141958728 SIPA1L3 Nonsynonymous SNV A283V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 10.11 120633 chr17 56272362 56272362 A G rs148671148 EPX Nonsynonymous SNV N211S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.003 120634 chr8 17838213 17838213 G T rs148806955 PCM1 Stop gain E1353X 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Likely benign 46 120635 chr19 3557303 3557303 G A rs774500570 MFSD12 Synonymous SNV D33D 0.003 0.01 0 0 3 4 0 0 0 0 0 0 11.42 120636 chr17 54535306 54535306 G A rs542195287 ANKFN1 Nonsynonymous SNV R511Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 120637 chr11 17546005 17546005 C T rs773514992 USH1C Nonsynonymous SNV G251E 0 0 0.003 0 0 0 0 1 0 0 0 0 28 120638 chr7 102036873 102036873 C A rs371818662 PRKRIP1 Synonymous SNV A5A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.54 120639 chr17 56440643 56440643 G A rs139557480 RNF43 Nonsynonymous SNV P65L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 120640 chr17 60040275 60040275 C T rs200032107 MED13 Synonymous SNV T1634T 0.009 0.01 0.003 4 10 4 0.01 1 0 0 0 0 Benign 11.92 120641 chr11 19077011 19077011 A C rs117328742 MRGPRX2 Nonsynonymous SNV S313R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.011 120642 chr11 19251467 19251467 T C E2F8 Nonsynonymous SNV D476G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.736 120643 chr11 19252340 19252340 C G rs138725272 E2F8 Nonsynonymous SNV V370L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 120644 chr19 36278363 36278363 C A rs200434839 ARHGAP33 Nonsynonymous SNV P830T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 23.7 120645 chr11 19914034 19914034 C T rs150370111 NAV2 Synonymous SNV R211R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 120646 chr17 61432167 61432167 C G rs764173544 TANC2 Nonsynonymous SNV F592L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 120647 chr19 4510792 4510792 G A rs144380069 PLIN4 Synonymous SNV P1060P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.891 120648 chr19 42462952 42462952 G A RABAC1 Nonsynonymous SNV R69C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 120649 chr19 3767324 3767324 A G rs368253674 MRPL54 Nonsynonymous SNV Y117C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 120650 chr8 10467589 10467589 - CCTCTAACTGCACCACCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCACCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC RP1L1 E1339_E1340insGTKTEEGLQEEGVQLEETKTEEGLQEEVVQLEETKTEEGLQEEVVQLE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 120651 chr19 45810735 45810735 C T rs556510487 CKM Synonymous SNV L317L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 120652 chr11 26725463 26725463 G T SLC5A12 Nonsynonymous SNV A186E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 120653 chr19 45976226 45976226 C T FOSB Stop gain Q289X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 120654 chr17 66915604 66915604 G A rs148466160 ABCA8 Synonymous SNV I542I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 9.124 120655 chr17 66928428 66928428 C G rs148585635 ABCA8 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 120656 chr8 38839241 38839241 C T rs200544083 HTRA4 Stop gain R357X 0 0.005 0 0 0 2 0 0 0 0 0 0 36 120657 chr11 31838171 31838171 A G rs560435847 PAX6-AS1 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23 120658 chr19 44377739 44377739 A G rs373038530 ZNF404 Synonymous SNV H206H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.452 120659 chr19 38995412 38995412 A G rs775479195 RYR1 Nonsynonymous SNV M2698V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.93 120660 chr17 673290 673290 G C rs112396332 GLOD4 Synonymous SNV A190A 0.014 0.01 0.007 1 17 4 0.003 2 0 0 0 0 8.412 120661 chr19 3964837 3964837 C T rs947755077 DAPK3 Nonsynonymous SNV R72Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 15.57 120662 chr19 472471 472471 G C ODF3L2 Nonsynonymous SNV S53C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 120663 chr19 4013229 4013229 C T rs2289866 PIAS4 Synonymous SNV Y112Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.06 120664 chr19 40433386 40433386 C T FCGBP Nonsynonymous SNV V295I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 120665 chr1 109529213 109529213 A G rs41299563 WDR47 Synonymous SNV G627G 0.004 0.005 0.01 1 5 2 0.003 3 1 0 0 0 7.925 120666 chr11 43427163 43427163 G T rs774905667 TTC17 Stop gain E527X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 120667 chr11 43427165 43427165 A T rs745433168 TTC17 Nonsynonymous SNV E527D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 120668 chr8 73993267 73993267 G A rs117453532 SBSPON Synonymous SNV C132C 0.008 0.01 0 0 9 4 0 0 0 0 0 0 9.299 120669 chr8 77767852 77767852 A G ZFHX4 Nonsynonymous SNV S2899G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 120670 chr17 72859341 72859341 C T rs146539535 FDXR Nonsynonymous SNV R361K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.9 120671 chr19 42596344 42596344 G A rs775888023 POU2F2 Nonsynonymous SNV A426V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.94 120672 chr17 72943336 72943336 C T rs74750893 OTOP3 Synonymous SNV I444I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 120673 chr11 46897457 46897457 G A rs757571646 LRP4 Synonymous SNV G1199G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.4 120674 chr11 47364259 47364259 G C rs397515906 MYBPC3 Synonymous SNV T498T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 7.363 120675 chr19 49658233 49658233 G A rs148966785 HRC Nonsynonymous SNV R88C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 20.2 120676 chr19 49686408 49686408 A C rs56355369 TRPM4 Nonsynonymous SNV D207A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 22.7 120677 chr17 73501056 73501056 C T rs768513603 CASKIN2 Synonymous SNV E261E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 120678 chr19 49925801 49925801 C G rs763946286 PTH2 Nonsynonymous SNV R76P 0.001 0 0 0 1 0 0 0 0 0 0 0 35 120679 chr17 73627273 73627273 C T rs200732170 RECQL5 Nonsynonymous SNV R502Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 120680 chr19 44471072 44471072 C T rs137927960 ZNF221 Nonsynonymous SNV T473M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25 120681 chr19 44580546 44580546 A T ZNF284 Nonsynonymous SNV T2S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.214 120682 chr17 74151691 74151691 A C rs150633713 RNF157 Synonymous SNV A550A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.932 120683 chr19 50962436 50962436 G T MYBPC2 Synonymous SNV V888V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.572 120684 chr19 50979553 50979553 C T FAM71E1 Synonymous SNV K31K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.635 120685 chr17 74465881 74465881 G A rs138026520 AANAT Synonymous SNV P151P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.942 120686 chr8 120103453 120103453 A G COLEC10 Nonsynonymous SNV K96E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.12 120687 chr8 53580712 53580712 G A rs148134800 RB1CC1 Nonsynonymous SNV R348C 0 0 0 2 0 0 0.005 0 0 0 0 0 28.8 120688 chr19 4523881 4523881 C T rs762489897 PLIN5 Nonsynonymous SNV V351M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.48 120689 chr8 121209159 121209159 A G rs115892986 COL14A1 Nonsynonymous SNV D189G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.68 120690 chr8 124664065 124664065 G A rs61732636 KLHL38 Nonsynonymous SNV P368S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.73 120691 chr8 124978406 124978406 T A rs74808242 FER1L6 Nonsynonymous SNV I87K 0.007 0.005 0.014 0 8 2 0 4 0 0 0 0 Likely benign 26.8 120692 chr11 5067931 5067931 A G rs144571862 OR52J3 Nonsynonymous SNV E59G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 120693 chr17 7802780 7802780 C T rs767694810 CHD3 Synonymous SNV D880D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.832 120694 chr1 145533439 145533439 G A rs149835959 ITGA10 Nonsynonymous SNV R298Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 120695 chr8 133090150 133090150 C T rs118152489 HHLA1 Nonsynonymous SNV V332M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6 120696 chr17 78341843 78341843 C T rs139265462 RNF213 Nonsynonymous SNV R4019C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 24 120697 chr11 5510263 5510263 T A rs374132161 OR52D1 Synonymous SNV S109S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 120698 chr17 79496089 79496089 A G FSCN2 Nonsynonymous SNV I178V 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.004 120699 chr8 99224679 99224679 T C NIPAL2 Synonymous SNV K203K 0 0 0 2 0 0 0.005 0 0 0 0 0 3.205 120700 chr17 79899280 79899280 C T rs757879513 MYADML2 Nonsynonymous SNV R113Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.67 120701 chr8 144659492 144659492 C T rs756799130 NAPRT Nonsynonymous SNV R172Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 33 120702 chr17 80042777 80042777 G A rs777087105 FASN Nonsynonymous SNV P1488S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.306 120703 chr17 80373337 80373337 C T rs201644261 OGFOD3 Nonsynonymous SNV V81M 0.003 0 0 0 3 0 0 0 0 0 0 0 23 120704 chr19 52034850 52034850 - GCAGCA SIGLEC6 L17_P18insLL 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 120705 chr19 50156904 50156904 G A rs368025682 SCAF1 Synonymous SNV P1086P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.48 120706 chr19 50764740 50764740 G A rs746902884 MYH14 Synonymous SNV A770A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 11.82 120707 chr18 21113425 21113425 G A NPC1 Synonymous SNV A1216A 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 13.41 120708 chr18 21740009 21740009 G A rs144780313 CABYR Nonsynonymous SNV R274H 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 24.7 120709 chr8 145625185 145625185 C T rs368501733 CPSF1 Nonsynonymous SNV V369I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.7 120710 chr19 53116831 53116831 C T rs542960627 ZNF83 Synonymous SNV K329K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.7 120711 chr18 13049262 13049262 G A rs755112775 CEP192 Synonymous SNV P824P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.429 120712 chr18 3112406 3112406 C T rs186972208 MYOM1 Nonsynonymous SNV R1007Q 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.13 120713 chr18 19752066 19752066 G A GATA6 Nonsynonymous SNV G321R 0.004 0 0 0 5 0 0 0 0 0 0 0 28.7 120714 chr19 56466129 56466129 C T rs144675745 NLRP8 Synonymous SNV H235H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.273 120715 chr8 139674277 139674277 C T rs146190475 COL22A1 Nonsynonymous SNV R1079Q 0 0 0 2 0 0 0.005 0 0 0 0 0 16.67 120716 chr19 57036677 57036677 C T rs372818781 ZNF471 Nonsynonymous SNV S340L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 120717 chr19 54976356 54976356 C T rs10017 CDC42EP5 Nonsynonymous SNV G126R 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 16.39 120718 chr18 2913218 2913218 A T EMILIN2 Nonsynonymous SNV H993L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 120719 chr19 5772823 5772823 G C rs143660393 CATSPERD Nonsynonymous SNV E596D 0.011 0.016 0.01 4 13 6 0.01 3 0 0 0 0 23 120720 chr19 5783614 5783614 T A rs2436489 PRR22 Nonsynonymous SNV Q215L 0.011 0.023 0.007 4 13 9 0.01 2 0 0 0 0 8.398 120721 chr19 55756953 55756953 G A rs374642653 PPP6R1 Synonymous SNV Y107Y 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 10.24 120722 chr9 26116189 26116189 T C rs144869217 LOC100506422 Nonsynonymous SNV I122T 0.008 0.016 0.003 4 9 6 0.01 1 0 0 0 0 0.919 120723 chr18 50683873 50683873 G A rs141813053 DCC Nonsynonymous SNV G470D 0.009 0.01 0.003 0 10 4 0 1 0 0 0 0 Uncertain significance 24.6 120724 chr19 55994721 55994721 C T rs1051139986 ZNF628 Nonsynonymous SNV L721F 0.005 0 0 2 6 0 0.005 0 0 0 0 0 23.7 120725 chr9 35910495 35910495 T C rs747866009 SPAAR Nonsynonymous SNV L12P 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 11.54 120726 chr8 144940462 144940462 G A rs56146920 EPPK1 Synonymous SNV S2320S 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 11.81 120727 chr8 144940474 144940474 C T rs56015972 EPPK1 Synonymous SNV G2316G 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 14.37 120728 chr11 61109960 61109960 G A rs200763152 TKFC Nonsynonymous SNV R228Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 120729 chr8 67789706 67789706 A C rs116880118 MCMDC2 Synonymous SNV A136A 0.014 0.016 0.02 4 17 6 0.01 6 0 0 0 0 3.595 120730 chr18 47010098 47010098 G A rs80201970 C18orf32, RPL17-C18orf32 Nonsynonymous SNV S146L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 120731 chr11 61645052 61645052 C A rs758316528 FADS3 Synonymous SNV P272P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 120732 chr18 48256105 48256105 C A rs368327562 MAPK4 Nonsynonymous SNV L338I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 120733 chr19 56720387 56720387 G C rs45622531 ZSCAN5C Nonsynonymous SNV E437Q 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 23.8 120734 chr8 71520363 71520363 C T TRAM1 Synonymous SNV A24A 0.003 0 0 0 3 0 0 0 0 0 0 0 21.8 120735 chr11 62494464 62494464 - CCGCCGGGCCCGGCCCCGCCG HNRNPUL2 G55_A56insGGAGPGG 0 0 0.003 0 0 0 0 1 0 0 0 0 120736 chr11 62621044 62621044 T G rs72929486 SNHG1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.528 120737 chr18 5395618 5395618 T A EPB41L3 Nonsynonymous SNV H799L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 34 120738 chr18 61585302 61585302 C T rs150764677 SERPINB10 Nonsynonymous SNV A113V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22 120739 chr8 145066518 145066518 A G GRINA Nonsynonymous SNV T267A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.006 120740 chr18 66504023 66504023 G A rs199750681 CCDC102B Nonsynonymous SNV R8Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 120741 chr11 63883967 63883967 C T rs200049740 FLRT1 Synonymous SNV P76P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.058 120742 chr11 639967 639967 G A rs537247984 DRD4 Nonsynonymous SNV G240S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.04 120743 chr9 80869773 80869773 G C rs375721961 CEP78 Nonsynonymous SNV V426L 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 120744 chr18 580681 580681 C T rs114926253 CETN1 Synonymous SNV A91A 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 11.97 120745 chr9 89561456 89561456 C G rs755684527 GAS1 Nonsynonymous SNV G80A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.943 120746 chr8 101642562 101642562 G A rs201994033 SNX31 Nonsynonymous SNV A105V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.072 120747 chr18 77246367 77246367 C A rs750139191 NFATC1 Nonsynonymous SNV P266T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.421 120748 chr19 884907 884907 G A rs146721272 MED16 Synonymous SNV P327P 0.003 0.003 0.003 6 4 1 0.015 1 0 0 0 0 14.2 120749 chr18 77659522 77659522 C T rs3744887 KCNG2 Synonymous SNV T369T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 16.1 120750 chr8 105509700 105509700 A G rs143941159 LRP12 Synonymous SNV N341N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.475 120751 chr8 110432873 110432873 A G rs186716306 PKHD1L1 Nonsynonymous SNV Y884C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.38 120752 chr11 6555244 6555244 G T rs180918289 DNHD1 Stop gain E947X 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 38 120753 chr19 56538441 56538441 C T rs45627733 NLRP5 Nonsynonymous SNV T281M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Likely benign 24.4 120754 chr11 6578072 6578072 C T rs746491491 DNHD1 Nonsynonymous SNV P2516L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 120755 chr11 65784558 65784558 G A rs750909314 CATSPER1 Synonymous SNV I763I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.737 120756 chr8 121457749 121457749 A C rs146436573 MTBP Synonymous SNV G13G 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 4.914 120757 chr19 757185 757185 G A rs138508960 MISP Nonsynonymous SNV R80Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.76 120758 chr18 73000503 73000503 G A rs118011606 TSHZ1 Synonymous SNV A1047A 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 Likely benign 8.233 120759 chr19 7677658 7677658 C T rs367687785 CAMSAP3 Nonsynonymous SNV A760V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.657 120760 chr19 7964688 7964688 G - LRRC8E G299Vfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 120761 chr19 10599970 10599970 G A rs749651891 KEAP1 Nonsynonymous SNV R536C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.3 120762 chr9 107620859 107620859 G A rs778130619 ABCA1 Synonymous SNV L222L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.876 120763 chr19 10670487 10670487 G A rs34743532 KRI1 Nonsynonymous SNV S309L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 2.882 120764 chr11 67811642 67811642 G A rs146244480 TCIRG1 Nonsynonymous SNV R68Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.96 120765 chr11 68678956 68678956 C T rs780802298 IGHMBP2 Nonsynonymous SNV A199V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 120766 chr19 11333460 11333460 A G rs370735885 DOCK6 Nonsynonymous SNV L1064P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 120767 chr9 35561342 35561342 C T rs369480606 RUSC2 Nonsynonymous SNV P627L 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 120768 chr19 9868501 9868501 C T rs78118057 ZNF846 Nonsynonymous SNV G289R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 27.3 120769 chr19 11687277 11687277 A T rs887425978 ACP5 Synonymous SNV P172P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 0.004 120770 chr9 115651982 115651982 C G rs146384415 SLC46A2 Nonsynonymous SNV G327A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.6 120771 chr9 115652185 115652185 A G rs7021942 SLC46A2 Synonymous SNV D259D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 0.003 120772 chr19 10225217 10225217 A G rs781124916 P2RY11, PPAN-P2RY11 Nonsynonymous SNV M310V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.314 120773 chr19 14074787 14074787 C T rs137952654 RFX1 Synonymous SNV L748L 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 Benign 17.49 120774 chr19 14083837 14083837 G A rs151085501 RFX1 Synonymous SNV P344P 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 Benign 8.632 120775 chr11 73715549 73715549 A G rs772672705 UCP3 Nonsynonymous SNV L208P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 120776 chr19 756955 756955 C T rs138945269 MISP Synonymous SNV R3R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.88 120777 chr19 7585253 7585253 T C rs140960216 ZNF358 Synonymous SNV Y375Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.57 120778 chr11 74800114 74800114 G C OR2AT4 Synonymous SNV P215P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.583 120779 chr19 7747480 7747480 C T TRAPPC5 Nonsynonymous SNV T114I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 120780 chr19 15636256 15636256 C A rs200883622 CYP4F22 Nonsynonymous SNV R37S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.2 120781 chr11 75378623 75378623 G C rs1011449512 MAP6 Synonymous SNV A264A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 120782 chr1 110924369 110924369 G T SLC16A4 Nonsynonymous SNV S28Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 120783 chr19 11303718 11303718 G A rs118109949 KANK2 Synonymous SNV A346A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 4.011 120784 chr11 75501312 75501312 G - DGAT2 V68Cfs*35 0 0 0.003 0 0 0 0 1 0 0 0 0 120785 chr11 763358 763358 A G rs147961544 TALDO1 Nonsynonymous SNV Q159R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.46 120786 chr19 804606 804606 C T PTBP1 Synonymous SNV A170A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.89 120787 chr1 111730959 111730959 G C DENND2D Nonsynonymous SNV P375R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.4 120788 chr19 8400551 8400551 C G rs571117304 KANK3 Nonsynonymous SNV E54Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.6 120789 chr11 76895661 76895661 C A rs376688581 MYO7A Nonsynonymous SNV S1135Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.82 120790 chr9 90501483 90501483 C A rs140696105 SPATA31E1 Nonsynonymous SNV T694N 0 0 0 2 0 0 0.005 0 0 0 0 0 7.352 120791 chr11 78380328 78380328 A G rs17136977 TENM4 Synonymous SNV D2354D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.079 120792 chr11 78387311 78387311 G A rs79381517 TENM4 Synonymous SNV T1794T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.46 120793 chr11 78525436 78525436 C T rs759320611 TENM4 Synonymous SNV S562S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 120794 chr19 8808957 8808957 G A rs868944828 ACTL9 Nonsynonymous SNV P32L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 120795 chr19 13879640 13879640 G A MRI1 Nonsynonymous SNV V243M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 120796 chr11 7960322 7960322 G A OR10A3 Nonsynonymous SNV T249I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 120797 chr19 13941159 13941159 C T rs147053253 ZSWIM4 Synonymous SNV A755A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 120798 chr19 8999421 8999421 G A MUC16 Nonsynonymous SNV T13585I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 120799 chr19 17397457 17397464 GTGTGTGT - ANKLE1 C588Ffs*34 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 120800 chr19 14877157 14877157 T C rs191200474 ADGRE2 Nonsynonymous SNV H175R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.922 120801 chr1 10165771 10165771 G A rs150442851 UBE4B Nonsynonymous SNV V260M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.89 120802 chr19 14951873 14951873 C T rs10221530 OR7A10 Nonsynonymous SNV A273T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.622 120803 chr19 14951874 14951874 A T rs141258439 OR7A10 Synonymous SNV A272A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.285 120804 chr19 14951879 14951879 C T rs146255677 OR7A10 Nonsynonymous SNV G271S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.111 120805 chr19 14951882 14951882 T A rs138114847 OR7A10 Nonsynonymous SNV T270S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.001 120806 chr19 14951884 14951884 T G rs112672877 OR7A10 Nonsynonymous SNV H269P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.62 120807 chr19 14952143 14952143 G C rs9305052 OR7A10 Nonsynonymous SNV Q183E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 4.491 120808 chr19 17838775 17838775 G A rs149369889 MAP1S Nonsynonymous SNV R835H 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 7.513 120809 chr9 100872180 100872180 C T rs41313311 TRIM14 Synonymous SNV E98E 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.66 120810 chr11 88242271 88242271 T G rs201851359 GRM5 Nonsynonymous SNV H1011P 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 9.904 120811 chr1 119469135 119469135 G A rs61730013 TBX15 Synonymous SNV Y173Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 11.36 120812 chr11 89891332 89891332 T C rs150106844 NAALAD2 Synonymous SNV D272D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.432 120813 chr1 110146108 110146108 A G rs34723289 GNAT2 Synonymous SNV N311N 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.253 120814 chr11 92624109 92624109 G A rs373934891 FAT3 Nonsynonymous SNV V4502M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.061 120815 chr1 1222506 1222506 C T rs2229832 SCNN1D Synonymous SNV G379G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.4 120816 chr9 8436664 8436664 G A PTPRD Synonymous SNV P931P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.749 120817 chr1 13839717 13839717 G C LRRC38 Nonsynonymous SNV F124L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 120818 chr1 13933727 13933727 A G rs141726617 PDPN Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 120819 chr19 16000369 16000369 C T rs780147674 CYP4F2 Nonsynonymous SNV R261H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 120820 chr9 17416038 17416038 A T CNTLN Nonsynonymous SNV I988L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.594 120821 chr1 111863044 111863044 G A rs142653250 CHIA Nonsynonymous SNV G302R 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 25 120822 chr1 217604632 217604632 G A rs144680521 GPATCH2 Nonsynonymous SNV T481M 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 19.65 120823 chr19 19822233 19822233 T G ZNF14 Nonsynonymous SNV Q619H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 22.4 120824 chr19 19822269 19822436 CCTTTCATGAATTCGAACAGAACTTGAAAATCTGAAGGCTTTCCCACATTGTTTACATCGATAGGGTTTCTCTCCCGTGTGAGTTCTCTCATGCATTCGAAATTTACTGGAAGAAATGAAGGCTTTTCCACATTGTTTACATTGATACGGTTTCTCTCCAGTGTGAGT - ZNF14 T552_R607del 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 120825 chr19 20003486 20003486 G A rs200823374 ZNF253 Nonsynonymous SNV R401Q 0.003 0.018 0 2 3 7 0.005 0 0 0 0 0 22.5 120826 chr9 21304891 21304891 C G rs140371188 IFNA5 Nonsynonymous SNV C122S 0.003 0.013 0.003 6 3 5 0.015 1 0 0 0 0 23.1 120827 chr1 114354732 114354732 C T rs199947324 RSBN1 Synonymous SNV G101G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.26 120828 chr1 114380914 114380914 G T rs72650671 PTPN22 Nonsynonymous SNV H315N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 8.668 120829 chr19 21720011 21720011 C T rs747558416 ZNF429 Stop gain R322X 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 120830 chr1 151400704 151400704 T C POGZ Nonsynonymous SNV T157A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 120831 chr19 17547613 17547613 C T rs991090936 TMEM221 Nonsynonymous SNV R177Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 120832 chr9 117012903 117012903 G A rs143876527 COL27A1 Nonsynonymous SNV M996I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 17.94 120833 chr9 139115945 139115945 C T rs202096445 QSOX2 Synonymous SNV E164E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.564 120834 chr1 226825406 226825406 C T rs139555467 ITPKB Nonsynonymous SNV V867I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.33 120835 chr1 1021302 1021302 T C rs151035904 C1orf159 Nonsynonymous SNV K134R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 17.06 120836 chr19 32083937 32083937 C T THEG5 Nonsynonymous SNV R147W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.012 120837 chr12 108912829 108912829 C T FICD Synonymous SNV H318H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.636 120838 chr19 327167 327167 G A rs115288588 MIER2 Synonymous SNV H117H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.65 120839 chr1 22832555 22832555 G C ZBTB40 Nonsynonymous SNV C282S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 120840 chr9 71152302 71152302 G A rs149202359 TMEM252 Nonsynonymous SNV T129M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.311 120841 chr9 72785477 72785477 C T rs117416859 MAMDC2 Synonymous SNV S527S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.75 120842 chr1 228433346 228433346 C T rs75801409 OBSCN Synonymous SNV C1238C 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 11.81 120843 chr9 139728383 139728383 C T RABL6 Nonsynonymous SNV S306F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.57 120844 chr19 34884861 34884861 G A rs750708328 GPI Nonsynonymous SNV V290I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.422 120845 chr1 111861782 111861782 - TGCCCCTCAGGAAG rs151326722 CHIA Frameshift insertion Y165Lfs*59 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 120846 chr1 146672977 146672977 A G FMO5 Nonsynonymous SNV F314L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 29.2 120847 chr1 113059793 113059793 T C rs112638528 WNT2B Synonymous SNV G152G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.084 120848 chr1 113063095 113063095 A G rs2227860 WNT2B Synonymous SNV K288K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.431 120849 chr12 113444285 113444285 C T rs16942424 OAS2 Synonymous SNV S512S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.86 120850 chr1 113636160 113636160 A G rs6688685 LRIG2 Synonymous SNV S163S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 12.07 120851 chr12 117484409 117484409 G A rs140780871 TESC Synonymous SNV A131A 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 14.07 120852 chr1 114948309 114948309 A G rs56056367 TRIM33 Synonymous SNV L831L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 8.898 120853 chr12 121465408 121465408 A G rs199515027 OASL Synonymous SNV D290D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 120854 chr1 1534901 1534901 G A FNDC10 Synonymous SNV P165P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.36 120855 chr1 153905982 153905982 G A rs200244879 DENND4B Nonsynonymous SNV R1114C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.9 120856 chr1 154309887 154309887 G A rs41304564 ATP8B2 Nonsynonymous SNV E320K 0.009 0.003 0.014 3 10 1 0.008 4 0 0 0 0 20.9 120857 chr12 123494398 123494398 G A rs200162860 PITPNM2 Synonymous SNV T214T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.11 120858 chr1 158639343 158639343 C T rs202243588 SPTA1 Nonsynonymous SNV R563Q 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 Uncertain significance 33 120859 chr1 120465336 120465336 T G NOTCH2 Nonsynonymous SNV N1642T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 13.82 120860 chr1 158736217 158736217 G A rs857828 OR6N1 Nonsynonymous SNV L86F 0.005 0.01 0.024 0 6 4 0 7 0 0 1 0 24.7 120861 chr10 16975171 16975171 G A rs149569558 CUBN Synonymous SNV P2013P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.482 120862 chr1 158906777 158906777 A G rs111499233 PYHIN1 Nonsynonymous SNV K26R 0.005 0.008 0 0 6 3 0 0 0 0 0 0 22.2 120863 chr9 103348330 103348350 GAGAGAGGCTAAGGCAGTCAG - rs876657508 CAVIN4 L248_R254del 0.002 0 0 0 2 0 0 0 0 0 0 0 120864 chr1 155174896 155174896 A G rs201862207 THBS3 Synonymous SNV D166D 0.005 0 0 3 6 0 0.008 0 0 0 0 0 14.53 120865 chr1 1269364 1269364 C T rs759947874 TAS1R3 Synonymous SNV V693V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.362 120866 chr10 17201176 17201176 G A rs141411248 TRDMT1 Nonsynonymous SNV S90L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.23 120867 chr10 18807893 18807893 G A rs750929086 CACNB2 Nonsynonymous SNV G259R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 33 120868 chr1 12251859 12251859 G C rs150483691 TNFRSF1B Synonymous SNV R112R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.497 120869 chr1 12343334 12343334 C G rs146077489 VPS13D Synonymous SNV L1725L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 8.376 120870 chr1 15639616 15639616 A G FHAD1 Nonsynonymous SNV E368G 0.003 0 0 0 3 0 0 0 0 0 0 0 14.99 120871 chr1 145474527 145474527 G A rs782067672 ANKRD34A Nonsynonymous SNV S400N 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 12.2 120872 chr1 12364628 12364628 G A rs111417481 VPS13D Synonymous SNV T2094T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 8.671 120873 chr1 12395791 12395791 A G rs141217404 VPS13D Nonsynonymous SNV M2820V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.593 120874 chr1 145530939 145530939 C T rs146565671 ITGA10 Nonsynonymous SNV T81M 0.014 0.013 0.01 5 17 5 0.013 3 1 0 0 0 33 120875 chr12 130648576 130648576 G T rs754648451 FZD10 Synonymous SNV A363A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 120876 chr1 15654738 15654738 T - rs773576027 LOC101927417 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 120877 chr10 26305773 26305773 C T rs33968748 MYO3A Nonsynonymous SNV T178I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 32 120878 chr1 14099574 14099574 G A rs148848913 PRDM2 Synonymous SNV G171G 0.01 0.003 0.017 1 12 1 0.003 5 0 0 0 0 15.35 120879 chr19 40320367 40320369 AGG - rs774176918 MIR6719 0 0.005 0 1 0 2 0.003 0 0 0 0 0 120880 chr10 26500889 26500889 C G rs56316209 MYO3A Synonymous SNV S1616S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 7.934 120881 chr12 133435735 133435735 C T rs149862277 CHFR Nonsynonymous SNV R197K 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 1.023 120882 chr1 161976198 161976198 G A rs140833279 OLFML2B Synonymous SNV T204T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.086 120883 chr1 162270481 162270481 A T NOS1AP Nonsynonymous SNV Q105L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 120884 chr1 162348815 162348815 C T rs756628118 C1orf226 Nonsynonymous SNV R38W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25 120885 chr12 16185549 16185552 GCGG - DERA R195Pfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 120886 chr12 16185553 16185553 G A DERA Nonsynonymous SNV A196T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 120887 chr1 16475048 16475048 G A rs34753465 EPHA2 Synonymous SNV A162A 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign 2.899 120888 chr1 15392284 15392284 G A rs763125536 KAZN Synonymous SNV A325A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.35 120889 chr1 167780071 167780071 C T rs117021474 ADCY10 Nonsynonymous SNV C1368Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.974 120890 chr1 159043205 159043205 G A rs745924959 AIM2 Nonsynonymous SNV L29F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 120891 chr19 42776141 42776141 G A rs188464728 CIC Nonsynonymous SNV R69Q 0.007 0.005 0.01 9 8 2 0.023 3 0 0 0 0 8.814 120892 chr19 42776500 42776500 C A rs543498277 CIC Nonsynonymous SNV P189T 0.003 0.005 0.007 5 4 2 0.013 2 0 0 0 0 16.25 120893 chr12 2914436 2914436 C T rs558571891 ITFG2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.44 120894 chr19 39340564 39340564 G T rs538500027 HNRNPL Synonymous SNV R15R 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign 12.6 120895 chr19 44058848 44058848 C T rs909380093 XRCC1 Nonsynonymous SNV E122K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 34 120896 chr1 155291777 155291777 C T rs41264941 RUSC1 Synonymous SNV C71C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.04 120897 chr1 171675552 171675552 C T rs377614084 VAMP4 Nonsynonymous SNV A117T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 120898 chr9 125487011 125487011 T C rs748975619 OR1L4 Nonsynonymous SNV V248A 0.018 0.016 0.003 1 21 6 0.003 1 0 0 0 0 0.017 120899 chr1 27023262 27023262 G A ARID1A Nonsynonymous SNV G123D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.58 120900 chr1 27023263 27023263 C G ARID1A Synonymous SNV G123G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.33 120901 chr12 44913967 44913967 A T NELL2 Nonsynonymous SNV C741S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 120902 chr9 140707511 140707511 C T rs371580823 EHMT1 Nonsynonymous SNV T967M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 34 120903 chr1 177913757 177913757 G A rs201587630 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV T266M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 120904 chr19 42092225 42092225 G A rs62119455 CEACAM21 0.004 0.005 0.01 4 5 2 0.01 3 0 0 0 0 9.317 120905 chr1 167515477 167515477 G A rs774281312 CREG1 Stop gain R174X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 120906 chr1 179112110 179112110 G T rs202125612 ABL2 Nonsynonymous SNV L24M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.39 120907 chr12 50480111 50480111 G A rs748214544 SMARCD1 Synonymous SNV A115A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.768 120908 chr10 72513692 72513692 C T rs144830999 ADAMTS14 Nonsynonymous SNV R956W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 120909 chr1 183200099 183200099 G A rs761351855 LAMC2 Nonsynonymous SNV C573Y 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 120910 chr1 183495812 183495812 A G rs144712473 SMG7 Nonsynonymous SNV K90E 0.005 0 0.014 1 6 0 0.003 4 0 0 0 0 23.3 120911 chr10 12071235 12071235 A T rs35258162 UPF2 Nonsynonymous SNV D218E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 120912 chr10 73055618 73055618 G A rs17546061 UNC5B Synonymous SNV P731P 0.019 0.021 0.02 7 22 8 0.018 6 0 0 0 0 5.605 120913 chr10 73057755 73057755 G C rs10823720 UNC5B Synonymous SNV L849L 0.021 0.023 0.024 6 25 9 0.015 7 0 0 0 0 8.996 120914 chr19 46518629 46518629 G C rs749151157 CCDC61 Synonymous SNV R263R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.332 120915 chr12 52162823 52162823 C T rs117217073 SCN8A Nonsynonymous SNV R1026C 0 0.003 0.014 3 0 1 0.008 4 0 0 0 0 Benign/Likely benign 23.5 120916 chr1 17380491 17380491 G A rs148738139 SDHB Synonymous SNV S8S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 10.3 120917 chr1 1853772 1853772 T C rs779724860 CFAP74 Nonsynonymous SNV E1625G 0.004 0 0 0 5 0 0 0 0 0 0 0 25.6 120918 chr1 160648846 160648846 G A rs764630236 CD48 Nonsynonymous SNV T243I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.5 120919 chr1 1859111 1859111 G A rs149316970 CFAP74 Synonymous SNV R1154R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.016 120920 chr1 36787970 36787970 C G rs199975369 EVA1B Nonsynonymous SNV D142H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 30 120921 chr1 186089213 186089213 T G rs147891898 HMCN1 Synonymous SNV T4055T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.817 120922 chr1 3712658 3712658 - GGCCCGGCGGCTCGGCGGGGCCCAGGCCTT LRRC47 G127_L128insQGLGPAEPPG 0.001 0 0 0 1 0 0 0 0 0 0 0 120923 chr19 47987362 47987362 A G KPTN Nonsynonymous SNV F19S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 120924 chr1 186303520 186303520 T C rs35766045 TPR Nonsynonymous SNV T1707A 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 16.97 120925 chr19 48378045 48378045 G A rs529798485 SULT2A1 Nonsynonymous SNV T205M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.64 120926 chr12 52967264 52967264 C T rs142401177 KRT74 Nonsynonymous SNV G100R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 14 120927 chr10 85972932 85972932 A G rs137876961 CDHR1 Nonsynonymous SNV N623S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.79 120928 chr1 192998416 192998416 G A rs35505005 UCHL5 Nonsynonymous SNV T153M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 120929 chr1 19493580 19493580 G C rs776593168 UBR4 Nonsynonymous SNV R1349G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 23.2 120930 chr19 49138900 49138900 G C rs555937572 DBP Nonsynonymous SNV R163G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 20 120931 chr19 49183695 49183695 C T rs3826841 SEC1P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 3.887 120932 chr19 49243511 49243511 C T rs764089172 RASIP1 Nonsynonymous SNV G10E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 120933 chr1 197070830 197070830 A G rs149228705 ASPM Synonymous SNV Y2517Y 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.06 120934 chr19 49254438 49254438 T C rs200808269 FUT1 Nonsynonymous SNV H34R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 120935 chr1 197112449 197112449 G C rs563858170 ASPM Nonsynonymous SNV S311R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 120936 chr19 45851985 45851985 C A rs199909048 KLC3 Nonsynonymous SNV H287Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 120937 chr1 197611889 197611889 A G rs200108172 DENND1B Synonymous SNV S208S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.222 120938 chr1 43700067 43700067 G A rs749440223 CFAP57 Nonsynonymous SNV V1115M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 120939 chr19 49926530 49926530 - CAG rs778674596 PTH2 L22_V23insL 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 120940 chr12 55725927 55725927 G C rs140445848 OR6C3 Nonsynonymous SNV S148T 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 0.646 120941 chr1 171757036 171757036 C T rs2232821 EEF1AKNMT Synonymous SNV S269S 0.005 0.003 0.014 5 6 1 0.013 4 0 0 0 0 19.15 120942 chr10 97371083 97371083 G A rs145806693 ALDH18A1 Synonymous SNV N468N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 11.39 120943 chr1 201177384 201177384 T G rs761307559 IGFN1 Synonymous SNV T1121T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 9.942 120944 chr1 186055432 186055432 A C rs150226500 HMCN1 Nonsynonymous SNV N2980T 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 Likely benign 14.72 120945 chr19 50251700 50251700 G A rs546390580 TSKS Synonymous SNV R142R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.68 120946 chr19 50792890 50792890 G A rs763245691 MYH14 Synonymous SNV R1609R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 10.32 120947 chr19 50905762 50905762 T C rs1143666 POLD1 Synonymous SNV A270A 0.007 0.005 0.014 3 8 2 0.008 4 0 0 0 0 Benign 0.683 120948 chr19 50916772 50916772 T C rs1274607 POLD1 Synonymous SNV S774S 0.007 0.005 0.01 3 8 2 0.008 3 0 0 0 0 Benign 5.831 120949 chr12 59206383 59206383 C T rs17121498 LOC100506869 0 0 0.01 0 0 0 0 3 0 0 0 0 32 120950 chr1 53099206 53099206 - G SHISAL2A Frameshift insertion V15Gfs*79 0.001 0.003 0 0 1 1 0 0 0 0 0 0 120951 chr10 101995477 101995477 T G rs139693285 CWF19L1 Synonymous SNV T336T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.25 120952 chr10 1405925 1405925 C T rs143914218 ADARB2 Synonymous SNV A125A 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Likely benign 17.05 120953 chr1 53986422 53986422 G A rs143850901 GLIS1 Synonymous SNV D362D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.013 120954 chr1 205033764 205033764 C A rs147693556 CNTN2 Nonsynonymous SNV P469T 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.14 120955 chr10 105038008 105038008 A G rs78099843 INA Nonsynonymous SNV H347R 0.009 0.016 0.017 6 10 6 0.015 5 0 0 0 0 23.1 120956 chr1 207134205 207134205 C G FCAMR Nonsynonymous SNV R339T 0.004 0 0 0 5 0 0 0 0 0 0 0 0.006 120957 chr10 105762504 105762504 C T SLK Nonsynonymous SNV T523I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.924 120958 chr12 7355269 7355269 T C rs76708142 PEX5 Nonsynonymous SNV M272T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 11.28 120959 chr1 182026332 182026332 G C ZNF648 Nonsynonymous SNV R272G 0.003 0 0 0 4 0 0 0 0 0 0 0 9.214 120960 chr12 81528625 81528625 C T rs61745251 ACSS3 Nonsynonymous SNV H162Y 0.015 0.005 0.007 8 18 2 0.021 2 0 0 0 0 8.811 120961 chr1 197060124 197060124 A G rs143931757 ASPM Synonymous SNV Y1579Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign/Likely benign 0.176 120962 chr1 197063285 197063285 T C rs529579918 ASPM Nonsynonymous SNV I1420V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 120963 chr10 73039663 73039663 G A rs758554511 UNC5B Synonymous SNV Q55Q 0 0 0 2 0 0 0.005 0 0 0 0 0 9.228 120964 chr12 91333987 91333987 G A rs11105878 LINC00615 0 0 0.003 0 0 0 0 1 0 0 0 0 1.768 120965 chr1 21904045 21904045 C T rs759758484 ALPL Synonymous SNV N416N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.994 120966 chr10 123844815 123844815 T G rs117734649 TACC2 Nonsynonymous SNV S934A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.32 120967 chr10 79566517 79566517 C T DLG5 Nonsynonymous SNV V1656M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.61 120968 chr10 81070786 81070786 - CTC rs775967377 ZMIZ1 P986_S987insP 0 0 0 2 0 0 0.005 0 0 0 0 0 120969 chr1 201965317 201965317 G T rs74710742 RNPEP Nonsynonymous SNV K129N 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 20.7 120970 chr19 54976340 54976340 T G CDC42EP5 Nonsynonymous SNV Q131P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.935 120971 chr1 223566951 223566951 G A rs768769948 CCDC185 Nonsynonymous SNV R45Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.98 120972 chr1 224495698 224495698 T C rs35095827 NVL Nonsynonymous SNV I98V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.987 120973 chr1 224495707 224495707 T C rs35056350 NVL Nonsynonymous SNV I95V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.003 120974 chr19 53432449 53432449 C G rs191740949 ZNF816-ZNF321P Nonsynonymous SNV G137R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.68 120975 chr10 128147738 128147738 G A rs139123090 C10orf90 Nonsynonymous SNV R590W 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 34 120976 chr13 110435306 110435306 G A IRS2 Nonsynonymous SNV P1032L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.462 120977 chr1 204923458 204923458 G A rs771183209 NFASC Nonsynonymous SNV A114T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 34 120978 chr19 56024499 56024499 C T rs190311542 SSC5D Synonymous SNV S969S 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 9.427 120979 chr1 227182596 227182596 C T rs748430428 CDC42BPA Synonymous SNV P1624P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 120980 chr19 54754716 54754716 A C rs140799798 LILRB5 Synonymous SNV P470P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.005 120981 chr13 113772808 113772808 C T rs747200317 F7 Nonsynonymous SNV P212L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 120982 chr1 206773089 206773089 C T rs41274816 EIF2D Synonymous SNV P226P 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 10.4 120983 chr1 89849657 89849657 C T rs199708308 GBP6 Nonsynonymous SNV R362W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 120984 chr13 114321733 114321733 C T GRK1 Nonsynonymous SNV A11V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 120985 chr19 55177358 55177358 C T rs200475774 LILRB4 Nonsynonymous SNV R313C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.39 120986 chr1 207651360 207651360 G C rs200182370 CR2 Nonsynonymous SNV Q952H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 120987 chr13 19759405 19759405 T - rs142818236 LOC101928697 0 0 0.095 0 0 0 0 28 0 0 2 0 120988 chr13 19761359 19761359 T G rs77809485 LOC101928697 0 0 0.095 0 0 0 0 28 0 0 2 0 0.002 120989 chr13 19761398 19761398 G A rs79239276 LOC101928697 0 0 0.095 0 0 0 0 28 0 0 2 0 23.2 120990 chr13 19761432 19761432 T C rs74996029 LOC101928697 0 0 0.092 0 0 0 0 27 0 0 2 0 0.072 120991 chr13 19761496 19761496 A G rs17790638 LOC101928697 0 0 0.085 0 0 0 0 25 0 0 2 0 5.685 120992 chr1 209799315 209799315 G A rs767004520 LAMB3 Nonsynonymous SNV R552C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 34 120993 chr19 56704284 56704284 A G rs750692923 ZSCAN5B Synonymous SNV N46N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.007 120994 chr10 52573704 52573704 G A A1CF Synonymous SNV D412D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.019 120995 chr1 21009211 21009211 C T rs139817126 KIF17 Nonsynonymous SNV V800I 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 26 120996 chr1 21012548 21012548 C T rs377589677 KIF17 Synonymous SNV P670P 0.009 0.013 0 0 11 5 0 0 1 0 0 0 13.39 120997 chr13 23939315 23939315 C T rs145681117 SACS Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.29 120998 chr1 228698228 228698228 T C rs146876203 BTNL10 Synonymous SNV S153S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 120999 chr13 26621063 26621063 C T rs377584498 SHISA2 Nonsynonymous SNV R159H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 121000 chr1 229772005 229772005 A G rs377291192 URB2 Nonsynonymous SNV I549V 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.001 121001 chr13 28841450 28841450 A G PAN3 Synonymous SNV A568A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.521 121002 chr1 231323276 231323276 G A LOC149373 Nonsynonymous SNV P13L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.521 121003 chr19 5616266 5616266 C T rs61745628 SAFB2 Synonymous SNV A140A 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 12.87 121004 chr10 71010316 71010316 G A rs780647583 HKDC1 Nonsynonymous SNV A582T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 121005 chr13 33704290 33704290 G A rs9568878 STARD13 Nonsynonymous SNV T167M 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 2.937 121006 chr19 56459556 56459556 C T rs146471073 NLRP8 Synonymous SNV R96R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 121007 chr1 22179512 22179512 G A rs371812575 HSPG2 Nonsynonymous SNV A2165V 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Uncertain significance 24.4 121008 chr1 235937207 235937207 T C rs370441301 LYST Nonsynonymous SNV I1907V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 4.995 121009 chr1 241920611 241920611 G A rs760119660 WDR64 Nonsynonymous SNV M599I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.817 121010 chr1 225142757 225142760 AGTT - rs748729159 DNAH14 V59Efs*7 0.004 0.01 0 0 5 4 0 0 0 0 0 0 121011 chr19 6848104 6848104 C T VAV1 Nonsynonymous SNV A681V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.5 121012 chr13 60240733 60240733 T C DIAPH3 Synonymous SNV R1143R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.025 121013 chr1 241837958 241837958 G A WDR64 Nonsynonymous SNV R131Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 121014 chr13 76427372 76427372 C T LMO7 Synonymous SNV N1176N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.05 121015 chr13 78273151 78273151 G A rs550883909 SLAIN1 Stop gain W31X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 121016 chr13 96293997 96293997 G A rs756131196 DZIP1 Nonsynonymous SNV A50V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 121017 chr13 96506633 96506633 C T rs145358686 UGGT2 Nonsynonymous SNV G1369R 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Likely benign 34 121018 chr19 6183135 6183135 C G rs147652076 ACSBG2 Nonsynonymous SNV H392D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.497 121019 chr14 101500139 101500139 C T rs201464875 MIR495 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 121020 chr20 306958 306958 C T rs200558979 SOX12 Synonymous SNV S130S 0.008 0.021 0.003 4 9 8 0.01 1 0 0 0 0 9.037 121021 chr1 248185874 248185874 C G rs544580911 OR2L5 Nonsynonymous SNV P209A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.88 121022 chr11 1471027 1471027 C G rs200368980 BRSK2 Synonymous SNV A416A 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 11.97 121023 chr1 248262825 248262825 G C rs143988315 OR2L13 Nonsynonymous SNV V50L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 121024 chr14 103589023 103589023 C A LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 3.949 121025 chr14 103804308 103804308 C T rs199848523 SNORA28 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 121026 chr14 104322573 104322573 G A rs45567035 LINC00637 0 0 0.014 0 0 0 0 4 0 0 0 0 6.094 121027 chr19 7743399 7743399 C T rs144579994 MCEMP1 Synonymous SNV C132C 0.012 0.005 0.007 2 14 2 0.005 2 0 0 0 0 6.173 121028 chr1 234613920 234613920 G T rs139752194 TARBP1 Nonsynonymous SNV N310K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.618 121029 chr14 105241304 105241304 G A rs2230506 AKT1 Synonymous SNV L202L 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 7.745 121030 chr19 9009323 9009323 C T rs36191915 MUC16 Synonymous SNV L13050L 0.014 0.008 0 4 16 3 0.01 0 0 0 0 0 9.445 121031 chr14 105346729 105346729 A C rs112026036 CEP170B Synonymous SNV R77R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.843 121032 chr14 105393523 105393523 T C rs894037 PLD4 Nonsynonymous SNV C23R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.437 121033 chr14 105404593 105404593 G A rs748358 AHNAK2 Nonsynonymous SNV T5632M 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.9 121034 chr11 2437185 2437185 C T rs34599318 TRPM5 Nonsynonymous SNV R360H 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.6 121035 chr1 236723074 236723074 G C rs77776078 HEATR1 Nonsynonymous SNV D1570E 0.013 0.016 0.02 7 15 6 0.018 6 0 0 0 0 19.61 121036 chr1 236737983 236737983 A G rs79225714 HEATR1 Nonsynonymous SNV I1102T 0.013 0.016 0.02 7 15 6 0.018 6 0 0 0 0 15.44 121037 chr1 236749730 236749730 C T rs60920266 HEATR1 Nonsynonymous SNV A580T 0.013 0.016 0.014 7 15 6 0.018 4 0 0 0 0 11.85 121038 chr1 236751269 236751269 C T rs78459283 HEATR1 Synonymous SNV L535L 0.013 0.016 0.02 7 15 6 0.018 6 0 0 0 0 12.12 121039 chr19 873485 873485 G A MED16 Synonymous SNV D623D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 121040 chr11 4674561 4674561 C A OR51E1 Synonymous SNV R269R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 16.51 121041 chr14 21461334 21461334 A G rs769182446 METTL17 Nonsynonymous SNV T196A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 121042 chr19 9077106 9077106 G A rs759136348 MUC16 Nonsynonymous SNV T3447I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 6.818 121043 chr1 31897634 31897634 C T rs35593581 SERINC2 Synonymous SNV F106F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.27 121044 chr1 27106106 27106106 G A rs41303631 ARID1A Nonsynonymous SNV R1906Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 22.5 121045 chr1 245027340 245027340 T C HNRNPU Synonymous SNV E90E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.055 121046 chr1 27690763 27690763 G C rs141857843 MAP3K6 Synonymous SNV T201T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.743 121047 chr1 27695744 27695744 G A rs202230664 FCN3 Nonsynonymous SNV R284W 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 121048 chr14 23524823 23524823 C A rs112724499 CDH24 Synonymous SNV L40L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 121049 chr14 23524845 23524845 T C rs150872215 CDH24 Nonsynonymous SNV E33G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 121050 chr11 609258 609258 G A rs376670960 PHRF1 Nonsynonymous SNV G1268R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.129 121051 chr14 23566913 23566913 C G rs35065609 C14orf119 Nonsynonymous SNV L16V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 121052 chr14 23571390 23571390 C T rs17126612 LMLN2 Nonsynonymous SNV R407Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 121053 chr19 9452869 9452869 A G ZNF559 Nonsynonymous SNV K312E 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.4 121054 chr1 242013835 242013835 C T rs199898975 EXO1 Synonymous SNV H36H 0.014 0.005 0 3 16 2 0.008 0 0 0 0 0 13.49 121055 chr14 24045172 24045172 G A rs202036165 JPH4 Synonymous SNV R291R 0.002 0.005 0.014 1 2 2 0.003 4 0 0 0 0 10.95 121056 chr14 24408866 24408866 G A rs1885810 DHRS4-AS1 0 0 0.075 0 0 0 0 22 0 0 2 0 4.767 121057 chr14 24410030 24410030 G T rs8003491 DHRS4-AS1 0 0 0.044 0 0 0 0 13 0 0 2 0 4.308 121058 chr14 24806303 24806303 G A rs146886719 RIPK3 Stop gain R422X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 121059 chr1 3328732 3328732 G A PRDM16 Synonymous SNV G657G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 121060 chr1 38047126 38047126 G A rs192532542 GNL2 Synonymous SNV H310H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.568 121061 chr1 39823365 39823365 T C rs148356076 MACF1 Nonsynonymous SNV S1853P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.49 121062 chr1 10705077 10705077 G A rs752037279 CASZ1 Synonymous SNV I1255I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.45 121063 chr14 31354967 31354967 C T rs28362776 LOC100506071 0.003 0.003 0.024 2 4 1 0.005 7 0 0 0 0 4.3 121064 chr1 109794316 109794316 C T rs138919468 CELSR2 Nonsynonymous SNV R539C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 121065 chr14 31776080 31776080 C G rs768647340 HEATR5A Nonsynonymous SNV L1608F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 121066 chr1 40980826 40980826 A G rs41268067 EXO5 Nonsynonymous SNV M204V 0.009 0.016 0.014 1 11 6 0.003 4 0 0 0 0 Benign 0.001 121067 chr1 109839533 109839533 C T rs141518010 MYBPHL Nonsynonymous SNV R201H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.6 121068 chr14 35593137 35593137 C T rs45626032 PRORP Nonsynonymous SNV A229V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 22.8 121069 chr11 6129082 6129082 G A rs148088117 OR56B4 Nonsynonymous SNV G25D 0.008 0.013 0.003 4 9 5 0.01 1 0 0 0 0 23.7 121070 chr1 112308722 112308722 A G rs41310098 DDX20 Nonsynonymous SNV N559S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 121071 chr1 43782962 43782962 A G rs35691474 TIE1 Synonymous SNV L789L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.897 121072 chr11 6458398 6458398 T C rs34780512 HPX Nonsynonymous SNV H238R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.169 121073 chr1 44087628 44087628 G A rs141490430 PTPRF Nonsynonymous SNV R1589H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 27.3 121074 chr1 41503044 41503044 T C rs148897535 SCMH1 Synonymous SNV L388L 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 6.918 121075 chr1 113140647 113140647 C A ST7L Nonsynonymous SNV D7Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 121076 chr1 117127669 117127669 G A rs779336400 IGSF3 Nonsynonymous SNV R816C 0 0.005 0 0 0 2 0 0 0 0 0 0 28.6 121077 chr1 28165315 28165315 G A PPP1R8 Nonsynonymous SNV V75I 0.01 0.013 0 0 12 5 0 0 1 0 0 0 24.6 121078 chr1 26612032 26612032 G A rs201515349 UBXN11 Nonsynonymous SNV R139C 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 25.3 121079 chr1 29631306 29631306 C T rs147297333 PTPRU Synonymous SNV D896D 0.013 0.013 0.003 0 15 5 0 1 1 0 0 0 18.07 121080 chr1 26769228 26769228 C T rs148606976 DHDDS Nonsynonymous SNV R63W 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 32 121081 chr1 43805099 43805099 G A rs147130173 MPL Synonymous SNV T183T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.86 121082 chr1 116941731 116941731 C G rs116412562 ATP1A1-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.399 121083 chr1 32672277 32672277 A C rs370489304 IQCC Nonsynonymous SNV R198S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 15.96 121084 chr1 117509538 117509538 G A rs142161951 PTGFRN Nonsynonymous SNV V549M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 121085 chr1 33237345 33237345 C T rs377242215 KIAA1522 Synonymous SNV L796L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.07 121086 chr1 33956976 33956976 T C rs201275808 ZSCAN20 Nonsynonymous SNV L373P 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 24 121087 chr1 53925162 53925162 G C rs150523807 DMRTB1 Synonymous SNV S12S 0.006 0 0 0 7 0 0 0 0 0 0 0 10.51 121088 chr1 46056939 46056939 A G rs140195987 NASP Nonsynonymous SNV E35G 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 22 121089 chr11 9595768 9595768 C T rs117347074 WEE1 Synonymous SNV P96P 0.032 0.031 0.01 9 37 12 0.023 3 3 1 0 0 10.14 121090 chr11 1855828 1855828 C G SYT8 Nonsynonymous SNV P5R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.081 121091 chr1 46818586 46818586 A G rs151033046 NSUN4 Synonymous SNV L164L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 6.809 121092 chr1 35447560 35447560 C T rs532311322 TMEM35B Synonymous SNV K150K 0.003 0.008 0 0 4 3 0 0 0 0 0 0 8.177 121093 chr11 14504608 14504608 T C rs924199242 COPB1 Synonymous SNV K309K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 3.832 121094 chr1 145477398 145477398 C T rs782279464 LIX1L Synonymous SNV A80A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.2 121095 chr1 1246021 1246021 C T rs201507216 PUSL1 Nonsynonymous SNV R218W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 121096 chr1 1248249 1248249 C T rs768950733 INTS11 Synonymous SNV Q306Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.76 121097 chr1 145585527 145585527 G T PIAS3 Nonsynonymous SNV A598S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.18 121098 chr1 3806544 3806544 C T rs149844985 C1orf174 Nonsynonymous SNV D238N 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 15.58 121099 chr1 146684926 146684926 C T FMO5 Nonsynonymous SNV V146I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 121100 chr1 51831691 51831691 G A EPS15 Synonymous SNV P396P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.298 121101 chr14 71444973 71444973 A T rs771209020 PCNX1 Nonsynonymous SNV Y640F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 121102 chr1 59922649 59922649 G A rs72913795 FGGY Nonsynonymous SNV V103M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 121103 chr14 72138399 72138399 A G rs140793485 SIPA1L1 Nonsynonymous SNV K940R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 121104 chr1 147131553 147131553 T C rs143920833 ACP6 Nonsynonymous SNV D146G 0.002 0.005 0.014 3 2 2 0.008 4 0 0 0 0 15.47 121105 chr1 38288276 38288276 G A rs150834514 MTF1 Synonymous SNV S428S 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 12.46 121106 chr1 39361743 39361743 T G RHBDL2 0.003 0.005 0 6 4 2 0.015 0 0 0 0 0 25.4 121107 chr11 18108504 18108504 T G rs77630906 SAAL1 Nonsynonymous SNV Q317H 0.001 0.003 0.007 7 1 1 0.018 2 0 0 0 0 14.38 121108 chr1 145477223 145477223 G A rs113404160 LIX1L Nonsynonymous SNV R22Q 0.004 0 0.003 2 5 0 0.005 1 1 0 0 0 25 121109 chr1 41482901 41482901 C T rs141445707 SLFNL1-AS1 0.007 0.008 0 7 8 3 0.018 0 0 0 0 0 8.351 121110 chr1 59248221 59248221 G A rs4647014 JUN Synonymous SNV S174S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 6.641 121111 chr1 151260028 151260028 C T rs1006862537 ZNF687 Nonsynonymous SNV R421C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 121112 chr11 22399187 22399187 C T rs1971865 SLC17A6 Synonymous SNV A550A 0.004 0.01 0.017 0 5 4 0 5 0 0 0 0 9.015 121113 chr1 5965824 5965824 G C rs12093500 NPHP4 Nonsynonymous SNV A32G 0.008 0 0.01 3 9 0 0.008 3 0 0 0 0 Benign/Likely benign 0.188 121114 chr1 43315371 43315371 A G rs925039133 ZNF691 Synonymous SNV L14L 0.004 0.008 0 7 5 3 0.018 0 0 0 0 0 1.358 121115 chr14 89154624 89154624 T C rs17124812 EML5 Synonymous SNV A911A 0.011 0.003 0.01 2 13 1 0.005 3 0 0 0 0 3.848 121116 chr14 89319359 89319359 G A rs141304350 TTC8 Synonymous SNV K183K 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.84 121117 chr11 33037516 33037516 G A DEPDC7 Synonymous SNV Q5Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 121118 chr11 1093569 1093569 - CTACTGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC MUC2 Stop gain T1797Lfs*3 0.003 0.003 0 0 4 1 0 0 0 0 0 0 121119 chr1 154842202 154842202 - GCTGCTGCTGCT KCNN3 Q80_P81insQQQQ 0.003 0.01 0 0 3 4 0 0 0 0 0 0 121120 chr1 86847998 86847998 A G rs56044687 ODF2L Nonsynonymous SNV V53A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.53 121121 chr11 36596718 36596718 G A rs148380512 RAG1 Nonsynonymous SNV A622T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24.8 121122 chr1 8926474 8926474 G T rs11544513 ENO1 Nonsynonymous SNV N84K 0.009 0.003 0.003 5 10 1 0.013 1 0 0 0 0 23.8 121123 chr1 47904813 47904813 G T FOXD2 Nonsynonymous SNV A336S 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 13.97 121124 chr1 155020535 155020535 A G rs150999804 DCST1 Synonymous SNV R561R 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 13.45 121125 chr1 155026439 155026439 G A rs758281032 ADAM15 Nonsynonymous SNV R116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 121126 chr1 155039225 155039225 G C rs142249822 EFNA4 Nonsynonymous SNV V45L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 17.73 121127 chr1 155168336 155168336 G A rs762830729 THBS3 Synonymous SNV S526S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.355 121128 chr15 101094072 101094079 CACACACA - rs879225445 PRKXP1 0 0 0.024 0 0 0 0 7 0 0 2 0 121129 chr11 47445720 47445720 G A rs186188306 PSMC3 Synonymous SNV D156D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.584 121130 chr1 156235679 156235679 A G SMG5 Nonsynonymous SNV L537P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 121131 chr15 22855144 22855144 C T rs61738868 TUBGCP5 Synonymous SNV S535S 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign 16.61 121132 chr1 84383302 84383302 C A rs138340708 TTLL7 Nonsynonymous SNV K497N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.34 121133 chr15 25232027 25232028 GT - rs3832976 PWAR5 0 0 0.017 0 0 0 0 5 0 0 0 0 121134 chr1 94486794 94486794 A G rs61750562 ABCA4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 25.5 121135 chr15 25232094 25232094 T A rs188270533 PWAR5, SNORD108 0 0 0.003 0 0 0 0 1 0 0 0 0 7.279 121136 chr15 25299383 25299383 A T rs149861130 SNORD116-2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 121137 chr1 55523765 55523765 C T PCSK9 Stop gain Q413X 0.003 0.005 0 0 3 2 0 0 0 0 0 0 41 121138 chr15 27572153 27572153 C T rs376676320 GABRG3 Synonymous SNV D156D 0 0 0.007 0 0 0 0 2 0 0 0 0 11.43 121139 chr1 979397 979397 G A rs143324306 AGRN Nonsynonymous SNV E665K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 121140 chr1 59139251 59139251 C T rs138210329 MYSM1 Synonymous SNV T522T 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 Benign 19.69 121141 chr21 47611029 47611029 C T rs376168171 LSS Nonsynonymous SNV G650S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 121142 chr15 31294626 31294626 G A rs766135610 TRPM1 Nonsynonymous SNV T1443M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 4.856 121143 chr1 86842044 86842044 C T rs147267768 ODF2L Nonsynonymous SNV A97T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.736 121144 chr1 160000261 160000261 G C rs751814615 PIGM Nonsynonymous SNV D423E 0 0.005 0 0 0 2 0 0 0 0 0 0 5.221 121145 chr21 47695146 47695146 G T rs370060960 MCM3AP Nonsynonymous SNV T651N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 121146 chr1 161088292 161088292 A G rs138523655 NIT1 Nonsynonymous SNV T2A 0.003 0.01 0.003 4 4 4 0.01 1 0 0 0 0 14.46 121147 chr11 6646899 6646899 G A rs752746132 DCHS1 Nonsynonymous SNV T2264M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 121148 chr1 158687346 158687346 A G OR6K3 Nonsynonymous SNV L187P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 121149 chr1 899814 899814 C T rs368669536 KLHL17 Nonsynonymous SNV A535V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 121150 chr1 65273051 65273051 C T rs756043573 RAVER2 Nonsynonymous SNV S525L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24 121151 chr1 159842914 159842914 T C CFAP45 Nonsynonymous SNV K466R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.73 121152 chr1 92163646 92163646 G A rs2228363 TGFBR3 Nonsynonymous SNV P776S 0.013 0.018 0 2 15 7 0.005 0 0 0 0 0 Likely benign 20.9 121153 chr1 160123000 160123000 G A rs7549352 ATP1A4 Nonsynonymous SNV V65M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26 121154 chr1 67792499 67792499 G A rs17129792 IL12RB2 Nonsynonymous SNV R149Q 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 Benign 11.8 121155 chr1 67816701 67816701 C T rs61731150 IL12RB2 Nonsynonymous SNV A396V 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 Benign 24.6 121156 chr1 160593320 160593320 C T rs761156398 SLAMF1 Synonymous SNV Q282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 121157 chr11 56127743 56127743 C T rs143902414 OR8J1 Synonymous SNV T7T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 1.02 121158 chr1 9786998 9786998 A C rs142050444 PIK3CD Nonsynonymous SNV E981A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.7 121159 chr15 50489714 50489714 G A rs776616450 SLC27A2 Nonsynonymous SNV E166K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 121160 chr15 52901577 52901577 C A rs774854859 FAM214A Nonsynonymous SNV D519Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.3 121161 chr20 31756954 31756954 G A rs17124277 BPIFA2 Star tloss M1I 0.009 0 0.01 1 10 0 0.003 3 0 0 0 0 28.6 121162 chr20 18295980 18295980 C T rs149892450 ZNF133 Nonsynonymous SNV T143I 0.009 0.01 0.003 5 11 4 0.013 1 0 0 0 0 2.663 121163 chr20 31757078 31757078 G A rs6059139 BPIFA2 Nonsynonymous SNV G43R 0.009 0 0.01 1 10 0 0.003 3 0 0 0 0 11.07 121164 chr20 31767470 31767470 G C rs1075435 BPIFA2 Nonsynonymous SNV V236L 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 9.341 121165 chr15 56387171 56387171 C A rs775631642 RFX7 Nonsynonymous SNV V822L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 121166 chr20 31812949 31812949 C T rs147632261 BPIFA3 Synonymous SNV I108I 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 12.67 121167 chr20 31889183 31889183 T C rs6120221 BPIFB1 Nonsynonymous SNV S298P 0.008 0.005 0.01 7 9 2 0.018 3 0 0 0 0 0.002 121168 chr20 31890175 31890175 G T rs6120222 BPIFB1 Nonsynonymous SNV S313I 0.006 0.003 0.01 6 7 1 0.015 3 0 0 0 0 6.288 121169 chr1 90179407 90179407 G A rs183454204 LRRC8C Synonymous SNV L426L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.568 121170 chr11 56468529 56468529 C A rs139056489 OR9G1, OR9G9 Synonymous SNV T222T 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 6.847 121171 chr15 62535513 62535513 G A rs113599247 GOLGA2P11 0 0 0.014 0 0 0 0 4 0 0 0 0 5.776 121172 chr15 62538106 62538106 C G rs149163518 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 1.654 121173 chr15 62538602 62538602 C G rs115514530 GOLGA2P11 0 0 0.01 0 0 0 0 3 0 0 0 0 5.187 121174 chr22 31521105 31521105 C T rs182440662 INPP5J Nonsynonymous SNV A127V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 121175 chr20 34828459 34828459 T C rs716431 AAR2 Synonymous SNV A223A 0.013 0.01 0.027 9 15 4 0.023 8 0 0 0 1 3.379 121176 chr11 57147266 57147266 G - rs776957765 PRG3 H26Ifs*5 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 121177 chr20 20501575 20501575 A C rs61744820 RALGAPA2 Nonsynonymous SNV L1357R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 121178 chr1 183197678 183197678 C T rs749556613 LAMC2 Synonymous SNV A546A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 18.21 121179 chr20 20501576 20501576 G T rs201596925 RALGAPA2 Nonsynonymous SNV L1357M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 121180 chr11 57367423 57367423 C T rs138315643 SERPING1 Synonymous SNV G41G 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 12.64 121181 chr20 36640790 36640790 G A rs759409160 TTI1 Nonsynonymous SNV R477C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 121182 chr1 185171917 185171917 A G rs773900203 SWT1 Nonsynonymous SNV Q552R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.61 121183 chr20 23345921 23345923 GAG - rs765048872 GZF1 E306del 0.001 0 0 0 1 0 0 0 0 0 0 0 121184 chr15 65490909 65490909 C T rs764059073 CILP Nonsynonymous SNV R572H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 121185 chr20 3683869 3683869 C T rs779674231 SIGLEC1 Synonymous SNV S401S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 121186 chr1 175323532 175323532 G A TNR Nonsynonymous SNV T793I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.72 121187 chr15 65684528 65684528 T C IGDCC4 Nonsynonymous SNV D689G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 121188 chr22 32352698 32352698 G A rs35621275 YWHAH Synonymous SNV T220T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.74 121189 chr1 17559339 17559339 G A rs779479051 PADI1 Nonsynonymous SNV R396Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 121190 chr1 1905505 1905505 C T rs372764253 CFAP74 Synonymous SNV E211E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.27 121191 chr1 179815503 179815503 G C rs116215968 TOR1AIP2 Synonymous SNV A372A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.24 121192 chr20 1610930 1610930 C A rs114055242 SIRPG Synonymous SNV A151A 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 15.91 121193 chr1 179959724 179959724 C G rs115186595 CEP350 Nonsynonymous SNV S68C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.4 121194 chr20 16337097 16337097 G A rs201827988 KIF16B Nonsynonymous SNV R1116W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 121195 chr1 180062215 180062215 T C rs74525002 CEP350 Synonymous SNV S2325S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.002 121196 chr15 74421475 74421475 A G rs1013454609 LOC283731 0 0 0.003 0 0 0 0 1 0 0 0 0 7.48 121197 chr22 38208953 38208953 C G GCAT Nonsynonymous SNV I155M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 121198 chr20 17610512 17610512 C T rs45479602 RRBP1 Nonsynonymous SNV R902Q 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 21.3 121199 chr20 32264747 32264747 C T rs367723468 E2F1 Nonsynonymous SNV V369M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.602 121200 chr20 32369111 32369111 T C rs371447753 ZNF341 Nonsynonymous SNV V456A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 121201 chr22 39884765 39884765 G C rs141333537 MGAT3 Nonsynonymous SNV E471D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.235 121202 chr11 63066499 63066499 A G rs749923051 SLC22A10 Nonsynonymous SNV E313G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 121203 chr1 203467949 203467949 G A rs75709549 OPTC Nonsynonymous SNV E171K 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 8.789 121204 chr20 3838454 3838454 C T rs367892824 MAVS Nonsynonymous SNV P97L 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 25.5 121205 chr1 192997019 192997019 G A rs183378056 UCHL5 Synonymous SNV L252L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 4.217 121206 chr20 25263834 25263834 C G rs79534510 PYGB Nonsynonymous SNV T514S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.8 121207 chr20 25656455 25656455 C T ZNF337 Nonsynonymous SNV C490Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26 121208 chr1 20517763 20517763 C T rs142831657 UBXN10 Stop gain R237X 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 36 121209 chr1 205549933 205549933 G A rs146109722 MFSD4A Nonsynonymous SNV G192S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.17 121210 chr20 2690262 2690262 G A rs570961197 EBF4 Synonymous SNV T173T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.76 121211 chr1 205549998 205549998 C T rs117252890 MFSD4A Synonymous SNV D213D 0.006 0.005 0 0 7 2 0 0 0 0 0 0 5.067 121212 chr20 30556444 30556444 G A rs758197159 XKR7 Nonsynonymous SNV E156K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.042 121213 chr1 207014395 207014395 C A IL19 Nonsynonymous SNV T137N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 121214 chr20 44521483 44521483 C T rs149793498 CTSA Synonymous SNV A189A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 121215 chr20 44538177 44538177 C T rs144016582 PLTP Nonsynonymous SNV A67T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 121216 chr20 44839036 44839036 C T rs573144704 CDH22 Nonsynonymous SNV G399D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21 121217 chr20 45717943 45717943 C T rs36002838 EYA2 Nonsynonymous SNV R243W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 121218 chr20 33030038 33030038 G A rs755013435 ITCH Nonsynonymous SNV G189R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 121219 chr15 90167713 90167713 C T TICRR Nonsynonymous SNV P1390L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.46 121220 chr20 60898589 60898589 C T rs371782670 LAMA5 Nonsynonymous SNV R1996H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 121221 chr20 60903318 60903318 T A LAMA5 Nonsynonymous SNV D1544V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 121222 chr1 201981215 201981215 T C rs749073376 ELF3 Synonymous SNV D98D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.083 121223 chr20 34568423 34568423 C G rs184047696 CNBD2 Nonsynonymous SNV P96A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.2 121224 chr20 34778664 34778664 C T rs77396561 EPB41L1 Synonymous SNV P353P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 13.2 121225 chr20 36468536 36468536 C T rs757144734 CTNNBL1 Nonsynonymous SNV R416W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 121226 chr15 93173467 93173467 G C rs112680504 FAM174B Synonymous SNV S151S 0.004 0.003 0.02 0 5 1 0 6 0 0 0 0 10.02 121227 chr1 204242827 204242827 G A rs150173263 PLEKHA6 Nonsynonymous SNV P10L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 121228 chr20 55028137 55028137 A T rs755066831 CASS4 Nonsynonymous SNV E581D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.012 121229 chr11 68193502 68193502 A G rs750114132 LRP5 Nonsynonymous SNV I581V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.701 121230 chr1 216219858 216219858 C A rs114402911 USH2A Nonsynonymous SNV K2080N 0.009 0.01 0.007 0 11 4 0 2 0 0 0 0 Benign 22.2 121231 chr20 40033302 40033302 G A rs749448664 CHD6 Synonymous SNV P2693P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.174 121232 chr1 20649940 20649940 C A VWA5B1 Nonsynonymous SNV P353Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 121233 chr2 10220091 10220091 G A rs180700353 CYS1 Nonsynonymous SNV P87L 0.007 0 0 2 8 0 0.005 0 2 0 0 1 17.86 121234 chr16 1129603 1129603 G A rs751156953 SSTR5 Synonymous SNV K245K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.148 121235 chr2 107460426 107460426 G A ST6GAL2 Nonsynonymous SNV P3L 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 23 121236 chr20 3736256 3736256 - TG rs775752981 C20orf27 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 121237 chr20 3739324 3739324 - C rs768948450 C20orf27 Frameshift insertion N33Qfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 121238 chr20 3739327 3739327 - TGTTGGCTGCAGCCATGGACGCCCTCCCTGCCACGCAGCTCCTGCCAGACACCGCCACTCACGCTC C20orf27 0.001 0 0 0 1 0 0 0 0 0 0 0 121239 chr1 224468857 224468857 T G rs147736516 NVL Nonsynonymous SNV I455L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.1 121240 chr20 45717955 45717955 G A rs139367894 EYA2 Nonsynonymous SNV G247R 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 27.9 121241 chr20 46279966 46279966 G A rs200934393 NCOA3 Nonsynonymous SNV G1297R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.5 121242 chr1 2103536 2103536 C T rs145709686 PRKCZ Synonymous SNV H185H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 121243 chr21 28210457 28210457 T C rs71317487 ADAMTS1 Nonsynonymous SNV D782G 0.006 0.003 0.02 3 7 1 0.008 6 0 0 0 0 Likely benign 24.6 121244 chr1 2130234 2130234 C T rs142593122 FAAP20 Nonsynonymous SNV R65H 0.01 0.008 0.01 1 12 3 0.003 3 0 0 0 0 5.481 121245 chr20 47558504 47558504 A G rs1045171320 ARFGEF2 Nonsynonymous SNV T86A 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 17.28 121246 chr16 1614087 1614087 G T IFT140 Nonsynonymous SNV L660M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 121247 chr1 226923779 226923779 G A rs35823273 ITPKB Nonsynonymous SNV P461S 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 10.08 121248 chr21 31691994 31691994 G A rs376463034 KRTAP26-1 Synonymous SNV S120S 0.001 0 0.007 5 1 0 0.013 2 0 0 0 0 8.351 121249 chr20 47887059 47887059 C T rs755078170 ZNFX1 Synonymous SNV V430V 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 5.082 121250 chr16 18828712 18828712 C T rs187828253 SMG1 Synonymous SNV A3325A 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 14.55 121251 chr1 228033265 228033265 C T rs144236979 PRSS38 Synonymous SNV P226P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.15 121252 chr1 228407265 228407265 G A rs61560753 OBSCN Nonsynonymous SNV R965K 0.004 0.013 0.007 7 5 5 0.018 2 0 0 0 0 10.49 121253 chr20 62198412 62198412 C T rs746146661 HELZ2 Nonsynonymous SNV A198T 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 121254 chr11 86666031 86666031 G A rs61735304 FZD4 Nonsynonymous SNV P33S 0.011 0.016 0 3 13 6 0.008 0 0 0 0 0 Benign/Likely benign 14.04 121255 chr1 228523957 228523957 G T rs199638902 OBSCN Nonsynonymous SNV G5508V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.045 121256 chr16 22327986 22327986 C T rs766458827 POLR3E Nonsynonymous SNV T200M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 121257 chr20 57598808 57598808 G A rs41303899 TUBB1 Nonsynonymous SNV G109E 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 121258 chr20 9385959 9385959 G A PLCB4 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.4 121259 chr1 22178084 22178084 C T rs150934420 HSPG2 Synonymous SNV Q2372Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.66 121260 chr11 96117537 96117537 A C rs117071588 CCDC82 Nonsynonymous SNV D125E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.06 121261 chr1 233489682 233489682 G A rs56268427 MAP3K21 Synonymous SNV P372P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 8.773 121262 chr16 2510154 2510154 G C rs186033526 TEDC2 Synonymous SNV P3P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.538 121263 chr11 101786033 101786033 C T rs201779479 CEP126 Synonymous SNV P6P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.3 121264 chr16 2812813 2812813 C T rs757554285 SRRM2 Nonsynonymous SNV L762F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.083 121265 chr2 141777554 141777554 C T rs77234491 LRP1B Nonsynonymous SNV R636Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.2 121266 chr1 224622838 224622838 T C CNIH3 Synonymous SNV H16H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.277 121267 chr16 29908193 29908193 G C SEZ6L2 Nonsynonymous SNV T110R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 121268 chr2 152487808 152487808 A T rs145770770 NEB Nonsynonymous SNV I3156N 0.003 0.026 0.007 5 4 10 0.013 2 0 0 0 0 Benign/Likely benign 29.3 121269 chr21 33651135 33651135 A C rs762541519 MIS18A Nonsynonymous SNV M64R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.007 121270 chr11 108032604 108032604 G A NPAT Nonsynonymous SNV T1077I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.027 121271 chr21 33678976 33678976 G T rs17855142 MRAP Synonymous SNV V44V 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Benign 16.74 121272 chr21 33684178 33684178 C G rs17855143 MRAP Synonymous SNV T71T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Benign 6.653 121273 chr21 33691718 33691718 C A rs80329348 URB1 Synonymous SNV L1867L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 13.76 121274 chr21 33694132 33694132 C T rs3827177 URB1 Synonymous SNV P1821P 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 10.37 121275 chr21 33719343 33719343 C G rs77503870 URB1 Nonsynonymous SNV D1264H 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 10.29 121276 chr11 110454313 110454313 C T rs7936020 ARHGAP20 Nonsynonymous SNV A499T 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 5.281 121277 chr16 30934166 30934166 G T rs549534156 FBXL19-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 121278 chr11 110454338 110454338 G A rs7936226 ARHGAP20 Synonymous SNV V490V 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 12.72 121279 chr11 111747600 111747600 C T rs202170043 FDXACB1 Synonymous SNV G155G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.816 121280 chr1 23842860 23842860 C T rs114788023 E2F2 Nonsynonymous SNV D338N 0.004 0.01 0 0 5 4 0 0 0 0 0 0 12.96 121281 chr11 59480448 59480448 A G rs146160008 OR10V1 Nonsynonymous SNV Y291H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 121282 chr16 31473836 31473836 G C rs35461188 ARMC5 Nonsynonymous SNV G323A 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign 0.026 121283 chr20 62577913 62577913 T C UCKL1 Nonsynonymous SNV K51R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.7 121284 chr21 47552191 47552191 G A rs145527336 COL6A2 Nonsynonymous SNV V929M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.1 121285 chr1 228494209 228494209 T C rs201397658 OBSCN Synonymous SNV N3932N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 0.023 121286 chr16 3817813 3817813 G A rs142008620 CREBBP Nonsynonymous SNV P1015L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.6 121287 chr20 944737 944737 C T rs377299234 RSPO4 Nonsynonymous SNV G146S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 7.365 121288 chr1 228526594 228526594 G A rs370952370 OBSCN Nonsynonymous SNV V5709M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 121289 chr11 61487639 61487639 C T rs142265242 DAGLA Synonymous SNV I4I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 121290 chr11 118984578 118984578 T G rs151042810 C2CD2L Synonymous SNV L501L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.677 121291 chr11 61687649 61687649 C A RAB3IL1 Stop gain E6X 0.001 0 0 0 1 0 0 0 0 0 0 0 9.471 121292 chr11 119027711 119027711 C T rs35060365 ABCG4 Nonsynonymous SNV P352L 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 14.7 121293 chr11 119155976 119155976 T C rs61755280 CBL Synonymous SNV P547P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 1.133 121294 chr11 62381825 62381825 G A rs150168119 ROM1 Nonsynonymous SNV R229H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.73 121295 chr1 229773516 229773516 C T rs143861062 URB2 Synonymous SNV G1052G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.2 121296 chr16 4862235 4862235 C A rs201018368 GLYR1 Nonsynonymous SNV R291S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 121297 chr11 62748549 62748549 C T SLC22A6 Synonymous SNV K315K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 121298 chr21 30547166 30547166 C T rs148340255 MAP3K7CL Synonymous SNV L73L 0.008 0.008 0 0 9 3 0 0 0 0 0 0 14.08 121299 chr11 62760800 62760800 C T rs145474422 SLC22A8 Nonsynonymous SNV R390Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.594 121300 chr1 230928193 230928193 G A rs148405103 CAPN9 Nonsynonymous SNV E519K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.1 121301 chr16 50188092 50188092 G A TENT4B Nonsynonymous SNV G187D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 121302 chr22 18363990 18363990 C T rs371089774 MICAL3 Nonsynonymous SNV R774Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 121303 chr21 45389013 45389013 C A rs146737372 AGPAT3 Synonymous SNV L121L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 18.45 121304 chr1 234458795 234458795 C A rs147628844 SLC35F3 Synonymous SNV R358R 0.003 0 0 0 4 0 0 0 0 0 0 0 19.1 121305 chr21 45523409 45523409 A C rs140089854 TRAPPC10 Synonymous SNV T792T 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 1.003 121306 chr22 21380120 21380120 C T rs555416952 P2RX6 Nonsynonymous SNV P155L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 121307 chr21 45714294 45714294 C T rs74203920 AIRE Nonsynonymous SNV R471C 0.003 0.01 0.003 4 4 4 0.01 1 0 0 0 0 Benign/Likely benign 22.7 121308 chr2 179528068 179528068 C A rs72650053 TTN Nonsynonymous SNV V12209L 0.011 0 0.003 0 13 0 0 1 4 0 0 0 Benign 15.63 121309 chr2 179589058 179589058 G A rs72648960 TTN Nonsynonymous SNV A5771V 0.01 0 0.003 2 12 0 0.005 1 0 0 0 0 Benign 21.5 121310 chr2 179613239 179613239 G C rs139103966 TTN Nonsynonymous SNV L4630V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.69 121311 chr16 57951278 57951278 T C rs766264215 CNGB1 Nonsynonymous SNV N681S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.41 121312 chr2 179621272 179621272 C T rs78535378 TTN Nonsynonymous SNV S3473N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.96 121313 chr21 38862643 38862643 G A rs138086853 DYRK1A Synonymous SNV A239A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 12.29 121314 chr16 58701316 58701316 G A rs117111840 SLC38A7 Nonsynonymous SNV T320M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 9.187 121315 chr1 237670025 237670025 C T rs372575878 RYR2 Nonsynonymous SNV H877Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 121316 chr16 66972096 66972096 C G rs371028613 CES2 Nonsynonymous SNV P78R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 121317 chr22 25620925 25620925 A G rs372174699 CRYBB2 Nonsynonymous SNV H32R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 121318 chr11 129725778 129725778 G A rs771464054 TMEM45B Stop gain W187X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 44 121319 chr21 43531228 43531228 G A rs751445279 UMODL1 Synonymous SNV Q632Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.302 121320 chr2 186657115 186657115 G A rs950937694 FSIP2 Nonsynonymous SNV R1751H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.107 121321 chr21 47851682 47851682 C G PCNT Synonymous SNV T2650T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.29 121322 chr1 26672484 26672484 A G CRYBG2 Nonsynonymous SNV V222A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.98 121323 chr21 43795837 43795837 G A rs186972955 TMPRSS3 Synonymous SNV H318H 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.736 121324 chr22 28397481 28397481 C G rs548381923 TTC28 Nonsynonymous SNV G1427R 0.002 0 0 0 2 0 0 0 0 0 0 0 33 121325 chr16 703648 703648 A G rs143047488 WDR90 Nonsynonymous SNV M453V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 121326 chr12 550125 550125 G A rs146023758 CCDC77 Nonsynonymous SNV R396Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 25.5 121327 chr16 70517824 70517824 G T rs113455884 COG4 Nonsynonymous SNV Q562K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.303 121328 chr1 27686358 27686358 C T MAP3K6 Synonymous SNV R762R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.2 121329 chr2 187692749 187692749 T C rs938283105 ZSWIM2 Nonsynonymous SNV T622A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 121330 chr22 19209037 19209037 T G rs377182816 CLTCL1 Nonsynonymous SNV N887H 0.001 0 0 5 1 0 0.013 0 0 0 0 0 23.8 121331 chr1 24766700 24766700 C T rs199785606 NIPAL3 Synonymous SNV H43H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.31 121332 chr22 19211544 19211544 A G CLTCL1 Nonsynonymous SNV F721S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.2 121333 chr1 29475254 29475254 C T SRSF4 Nonsynonymous SNV D385N 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23.3 121334 chr1 29475308 29475308 G A rs146585589 SRSF4 Nonsynonymous SNV R367C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23.3 121335 chr12 1984446 1984446 C T rs367691073 CACNA2D4 Nonsynonymous SNV E593K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 35 121336 chr12 3129932 3129932 C T rs71583736 TEAD4 Nonsynonymous SNV P110L 0.026 0.029 0.017 6 31 11 0.015 5 0 0 0 0 23.3 121337 chr1 31897556 31897556 C T rs147664019 SERINC2 Synonymous SNV A80A 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Benign 10.56 121338 chr16 72132832 72132832 G A rs150221434 DHX38 Synonymous SNV V257V 0.008 0.008 0.007 2 9 3 0.005 2 0 0 0 0 13.12 121339 chr16 72984796 72984796 G A rs138817639 ZFHX3 Synonymous SNV L16L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 6.827 121340 chr1 32628065 32628065 A G rs771319209 KPNA6 Nonsynonymous SNV N284S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 121341 chr11 73103297 73103297 G A RELT Nonsynonymous SNV G137R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 121342 chr22 21989229 21989229 C T rs567090339 CCDC116 Nonsynonymous SNV P293S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 121343 chr1 33161274 33161274 G C SYNC Nonsynonymous SNV T142R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.593 121344 chr16 75566985 75566985 A T rs544547643 CHST5 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 121345 chr12 6969574 6969574 C T rs115612078 USP5 Synonymous SNV I421I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 17.63 121346 chr12 7045907 7045912 CAGCAG - ATN1 Q501_Q502del 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 121347 chr11 74459986 74459994 CGGCGGGGC - rs760743694 RNF169 R25_R27del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 121348 chr22 24179882 24179898 GCGAGAAGCCCATGAGC - DERL3 L158Afs*60 0.001 0 0 0 1 0 0 0 0 0 0 0 121349 chr22 37414475 37414475 T C TST Nonsynonymous SNV D100G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 121350 chr2 204335018 204335018 C T RAPH1 Nonsynonymous SNV E278K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 121351 chr1 38172736 38172736 C T rs45487395 CDCA8 Synonymous SNV S266S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Likely benign 8.738 121352 chr16 81990371 81990371 C G PLCG2 Synonymous SNV L1214L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 121353 chr22 37888801 37888801 G A rs201794655 CARD10 Nonsynonymous SNV R829W 0.005 0 0 0 6 0 0 0 0 0 0 0 risk factor 16.71 121354 chr22 19052484 19052484 G T rs375125396 DGCR2 Nonsynonymous SNV A101E 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.6 121355 chr22 19175213 19175213 C G rs55790642 CLTCL1 Nonsynonymous SNV D1488H 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 24.3 121356 chr12 9090478 9090478 C G rs368030082 PHC1 Synonymous SNV L894L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.07 121357 chr16 83999565 83999565 G A rs147251034 OSGIN1 Nonsynonymous SNV A463T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26 121358 chr2 207171087 207171087 T A ZDBF2 Nonsynonymous SNV L612Q 0.005 0 0 0 6 0 0 0 0 0 0 0 22.5 121359 chr1 40095939 40095939 C T rs776350380 HEYL Synonymous SNV T91T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.98 121360 chr11 85445365 85445365 G C rs74718633 SYTL2 Nonsynonymous SNV S335C 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 25.9 121361 chr22 38131060 38131060 G A rs763491817 TRIOBP Nonsynonymous SNV V1573I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 121362 chr16 841909 841909 C T rs141187639 CHTF18 Nonsynonymous SNV A388V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 121363 chr1 2520017 2520020 TGTC - rs764755303 PRXL2B S157Gfs*77 0.001 0 0 0 1 0 0 0 0 0 0 0 121364 chr22 20843315 20843315 C G rs141003390 KLHL22 Nonsynonymous SNV E62Q 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 18.57 121365 chr22 21134223 21134223 G A rs5907 SERPIND1 Nonsynonymous SNV R208H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 34 121366 chr22 30771453 30771453 T C rs370770487 KIAA1656 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.392 121367 chr2 211068100 211068100 A G rs148069105 ACADL Synonymous SNV Y313Y 0.006 0 0 0 7 0 0 0 0 0 0 0 0.539 121368 chr22 40661112 40661112 T C rs73165082 TNRC6B Nonsynonymous SNV I293T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.549 121369 chr1 2700298 2700298 G C TTC34 Synonymous SNV L694L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 121370 chr1 42647595 42647595 C T rs149893297 FOXJ3 Synonymous SNV T548T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.22 121371 chr22 23476312 23476312 C T rs150195770 RSPH14 Nonsynonymous SNV D108N 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 6.609 121372 chr22 41347413 41347413 C T rs369038259 RBX1 Nonsynonymous SNV A4V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 121373 chr16 86545150 86545150 G T rs371761992 FOXF1 Synonymous SNV L325L 0 0 0.007 0 0 0 0 2 0 0 0 0 3.878 121374 chr1 42880545 42880545 G A rs200652116 RIMKLA Nonsynonymous SNV R359Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22.6 121375 chr2 21233739 21233739 T C rs140327327 APOB Nonsynonymous SNV T2001A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 14.42 121376 chr22 41922383 41922383 G A rs145042292 ACO2 Nonsynonymous SNV G627S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 121377 chr22 42209338 42209338 C T rs373211102 CCDC134 Synonymous SNV H127H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 121378 chr1 43738760 43738760 G A rs143350378 TMEM125 Nonsynonymous SNV V123M 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.4 121379 chr16 87723502 87723502 C T rs770390129 JPH3 Synonymous SNV G512G 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 Benign 9.815 121380 chr22 24180552 24180552 C - rs536282991 DERL3 G105Afs*4 0.009 0.005 0.003 0 11 2 0 1 0 0 0 0 121381 chr1 43892401 43892401 T C rs200084982 SZT2 Nonsynonymous SNV L1020P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Uncertain significance 3.449 121382 chr22 24237222 24237222 C A rs200809051 MIF-AS1 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 12.28 121383 chr22 24717591 24717591 A G SPECC1L Nonsynonymous SNV I215V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.051 121384 chr16 88502381 88502381 G C rs200153921 ZNF469 Nonsynonymous SNV E2835Q 0.007 0.01 0.014 7 8 4 0.018 4 0 0 0 1 Conflicting interpretations of pathogenicity 0.074 121385 chr22 26219599 26219599 G A rs767778280 MYO18B Synonymous SNV T883T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.93 121386 chr16 88643955 88643955 G A rs150103777 ZC3H18 Nonsynonymous SNV V142I 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 9.893 121387 chr16 88729429 88729429 G A rs139823729 MVD Synonymous SNV V20V 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 17.49 121388 chr12 15475691 15475691 G T rs139015332 PTPRO Nonsynonymous SNV A11S 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 8.736 121389 chr12 15742441 15742441 C G rs61757814 PTPRO Nonsynonymous SNV H316D 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 27.8 121390 chr1 35227105 35227105 G A rs773583740 GJB4 Nonsynonymous SNV V84I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.8 121391 chr16 89234912 89234912 C G rs563432300 LINC02138 0 0 0.003 0 0 0 0 1 0 0 0 0 1.271 121392 chr1 3789061 3789061 T C rs150541762 DFFB Nonsynonymous SNV L260S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.017 121393 chr1 3807482 3807482 G T rs200106912 C1orf174 Nonsynonymous SNV T90N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 121394 chr22 39125549 39125549 C T rs75211829 GTPBP1 Nonsynonymous SNV T600M 0.003 0 0 0 3 0 0 0 0 0 0 0 20.3 121395 chr1 52940844 52940844 T C rs776675735 TUT4 Nonsynonymous SNV D796G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 121396 chr1 39818687 39818687 A T rs771265580 MACF1 Synonymous SNV A1674A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.74 121397 chr12 27533261 27533261 G A rs764399225 ARNTL2 Synonymous SNV Q99Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 11.04 121398 chr16 9185952 9185952 C G rs374258512 C16orf72 Synonymous SNV P17P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 121399 chr22 37162389 37162389 C T rs75913273 LOC105373021 0.011 0.01 0.003 3 13 4 0.008 1 0 0 0 0 6.652 121400 chr22 50898793 50898793 C T rs201200122 SBF1 Nonsynonymous SNV G1065E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 121401 chr17 10363631 10363631 G T MYH4 Nonsynonymous SNV D385E 0 0 0.003 0 0 0 0 1 0 0 0 0 22 121402 chr22 37499394 37499394 C G rs562379019 TMPRSS6 Nonsynonymous SNV A22P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 121403 chr17 11783471 11783471 C A rs148325223 DNAH9 Nonsynonymous SNV P3519T 0.005 0.003 0.007 6 6 1 0.015 2 0 0 0 0 24.6 121404 chr12 40922977 40922977 A C rs78062154 MUC19 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 11.97 121405 chr12 41582569 41582569 C A rs954361223 PDZRN4 Stop gain C104X 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 35 121406 chr2 102034017 102034017 A C rs111964641 RFX8 Nonsynonymous SNV L161V 0.008 0.005 0.007 3 9 2 0.008 2 1 0 0 0 Likely benign 4.195 121407 chr2 103040524 103040524 A G IL18RAP Synonymous SNV K108K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 121408 chr22 40417596 40417596 G T FAM83F Nonsynonymous SNV G361V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.29 121409 chr2 103340221 103340221 T A rs1006185604 MFSD9 Nonsynonymous SNV E131V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 121410 chr22 40661005 40661005 G A rs543034259 TNRC6B Synonymous SNV G257G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.661 121411 chr22 46724772 46724772 G A rs1000717255 GTSE1 Nonsynonymous SNV A638T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 121412 chr22 43015837 43015837 G C CYB5R3 Nonsynonymous SNV A283G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 121413 chr12 50044572 50044572 C T rs180726148 FMNL3 Synonymous SNV A578A 0.009 0.016 0.003 1 10 6 0.003 1 0 0 0 0 18.39 121414 chr22 43870704 43870704 G A rs201486622 MPPED1 Synonymous SNV Q165Q 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 4.503 121415 chr1 52850899 52850899 C T rs147904927 ORC1 Nonsynonymous SNV C506Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 121416 chr1 52991629 52991629 G A rs116577888 TUT4 Synonymous SNV A108A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.725 121417 chr1 53555558 53555558 G A rs750036026 SLC1A7 Synonymous SNV A353A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 121418 chr12 52774362 52774362 G C rs568818056 KRT84 Synonymous SNV A403A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.05 121419 chr12 52985350 52985350 G A rs147630760 KRT72 Synonymous SNV N287N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.615 121420 chr2 128347710 128347710 T C rs61743282 MYO7B Nonsynonymous SNV F633S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.1 121421 chr2 128392242 128392242 C T rs199726409 MYO7B Synonymous SNV N1873N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.475 121422 chr17 2570480 2570480 T C rs140936904 PAFAH1B1 Synonymous SNV D129D 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.023 121423 chr1 85424378 85424378 C T rs368881560 MCOLN2 Nonsynonymous SNV R82H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 121424 chr2 135470855 135470855 G A rs16830938 TMEM163 Synonymous SNV H79H 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 4.505 121425 chr17 29854861 29854861 G T rs149307417 RAB11FIP4 Nonsynonymous SNV V166L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.73 121426 chr17 31266503 31266503 A G TMEM98 Nonsynonymous SNV D141G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 121427 chr1 6528321 6528321 G A rs150666859 PLEKHG5 Nonsynonymous SNV R859C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.4 121428 chr17 33482339 33482339 C A rs200208385 UNC45B Synonymous SNV R222R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.91 121429 chr12 404743 404743 A C KDM5A Nonsynonymous SNV M1484R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.44 121430 chr12 1005724 1005724 A G rs781281269 WNK1 Nonsynonymous SNV D1776G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.1 121431 chr12 1755295 1755295 C T rs150051301 WNT5B Synonymous SNV C319C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.02 121432 chr2 101097601 101097601 C A NMS Nonsynonymous SNV T129N 0 0.005 0 3 0 2 0.008 0 0 0 0 0 19.09 121433 chr22 46658832 46658832 C T rs555983963 PKDREJ Nonsynonymous SNV V130M 0.004 0 0.007 1 5 0 0.003 2 1 0 0 0 6.905 121434 chr12 56364959 56364959 C T rs200735531 CDK2 Synonymous SNV F180F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.21 121435 chr12 56815685 56815685 T C rs752567248 TIMELESS Synonymous SNV Q879Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.605 121436 chr1 9322273 9322273 C A rs150901527 H6PD Synonymous SNV R312R 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 21.4 121437 chr1 74808620 74808620 G C rs150107405 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV L259F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 121438 chr12 6443327 6443327 A C rs104895271 TNFRSF1A Nonsynonymous SNV D41E 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 0.003 121439 chr2 102968195 102968195 G A rs777825024 IL1RL1 Synonymous SNV A495A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.546 121440 chr12 56992501 56992501 G A rs151110106 BAZ2A Synonymous SNV N1871N 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 8.548 121441 chr2 160128276 160128276 C G rs200809117 WDSUB1 Nonsynonymous SNV S67T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 121442 chr17 37558517 37558539 GCCGCCGCGCCTCCGCGGTTGCC - rs750373499 FBXL20 G14Sfs*7 0 0 0.007 0 0 0 0 2 0 0 0 0 121443 chr12 58174368 58174368 G A rs141172155 EEF1AKMT3 Nonsynonymous SNV R207Q 0.003 0.005 0.003 7 4 2 0.018 1 0 0 0 0 24.9 121444 chr12 6464944 6464944 G A rs61731141 SCNN1A Synonymous SNV N385N 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 Benign/Likely benign 0.836 121445 chr2 162851876 162851876 T C rs200726335 DPP4 Nonsynonymous SNV T687A 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 24 121446 chr2 109405312 109405312 T A rs202057509 CCDC138 Nonsynonymous SNV D47E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.17 121447 chr1 8384638 8384638 C T rs149831242 SLC45A1 Synonymous SNV S83S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 121448 chr1 8390769 8390769 C T rs771993387 SLC45A1 Nonsynonymous SNV R406W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 121449 chr17 38191223 38191223 A G rs761082889 MED24 Synonymous SNV L188L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 121450 chr1 8420468 8420468 C T rs779302125 RERE Synonymous SNV P479P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.491 121451 chr12 6950484 6950484 G A rs566098814 GNB3 Synonymous SNV A11A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.64 121452 chr12 7045912 7045912 - CAGCAGCAGCAG ATN1 Q502_H503insQQQQ 0.009 0 0 1 10 0 0.003 0 0 0 0 0 121453 chr2 136528146 136528146 A G rs202213104 UBXN4 Synonymous SNV E221E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.871 121454 chr1 89408704 89408704 C T rs143272223 KYAT3 Nonsynonymous SNV R395H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 121455 chr2 170897489 170897489 C T rs139002361 UBR3 Nonsynonymous SNV R1552C 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 24.4 121456 chr2 43798936 43798936 T C THADA Synonymous SNV E658E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.914 121457 chr2 141747105 141747105 G A rs141468107 LRP1B Synonymous SNV C922C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.179 121458 chr2 144903152 144903152 G A GTDC1 Stop gain Q112X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 121459 chr1 899362 899362 G A KLHL17 Nonsynonymous SNV R473K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 121460 chr2 120439151 120439151 C T rs140163682 TMEM177 Nonsynonymous SNV A241V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.18 121461 chr12 11214199 11214199 G A rs200812670 TAS2R46 Nonsynonymous SNV T232I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 121462 chr12 93245972 93245972 A T EEA1 Synonymous SNV I207I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.525 121463 chr12 94976263 94976263 C T rs151064246 TMCC3 Nonsynonymous SNV G13R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.9 121464 chr17 39796081 39796081 G A rs79691050 KRT42P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.26 121465 chr1 93142746 93142746 G A rs146140626 EVI5 Nonsynonymous SNV T420M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.5 121466 chr1 9324275 9324275 G A rs149313646 H6PD Nonsynonymous SNV A586T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 121467 chr12 95927530 95927530 T G rs145368953 USP44 Nonsynonymous SNV Q168P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.815 121468 chr20 23546678 23546678 G - rs762096631 CST9L T96Ifs*21 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 121469 chr12 100441366 100441366 A C rs61739441 UHRF1BP1L Synonymous SNV T1341T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign 0.037 121470 chr12 100444901 100444901 T C rs17029945 UHRF1BP1L Nonsynonymous SNV I1175V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign 7.422 121471 chr12 100451954 100451954 G A rs78297096 UHRF1BP1L Nonsynonymous SNV T1034I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.035 121472 chr12 100452769 100452769 T G UHRF1BP1L Synonymous SNV R762R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 4.052 121473 chr12 100657394 100657396 TTC - DEPDC4 E145del 0 0.003 0 3 0 1 0.008 0 0 0 0 0 121474 chr2 70045801 70045801 C T rs116265883 ANXA4 Synonymous SNV S233S 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 Benign 14.08 121475 chr17 40831712 40831712 G A rs774395393 CCR10 Synonymous SNV R316R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.002 121476 chr17 40997952 40997952 C T AOC2 Nonsynonymous SNV H437Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 121477 chr2 163080161 163080161 A G rs149591141 FAP Nonsynonymous SNV Y99H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.56 121478 chr2 148693096 148693096 A T ORC4 Nonsynonymous SNV S348T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.6 121479 chr20 30525222 30525222 C - TTLL9 P246Hfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 121480 chr2 168103476 168103476 G A rs202066016 XIRP2 Synonymous SNV T1636T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.132 121481 chr12 22048211 22048211 C A ABCC9 Nonsynonymous SNV A553S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 121482 chr2 15378638 15378638 T G rs150924243 NBAS Nonsynonymous SNV E1966A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.7 121483 chr12 26275093 26275093 C T BHLHE41 Nonsynonymous SNV R452H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 121484 chr20 32678368 32678368 T G rs4911406 EIF2S2 Synonymous SNV R242R 0.01 0.008 0.003 3 12 3 0.008 1 0 0 0 0 10.62 121485 chr17 4446227 4446227 T G rs879797 MYBBP1A Nonsynonymous SNV H958P 0.022 0.018 0.024 11 26 7 0.028 7 2 0 0 0 0.006 121486 chr20 33657185 33657185 T C TRPC4AP Nonsynonymous SNV M110V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.613 121487 chr17 4535186 4535186 T C rs138472652 ALOX15 Nonsynonymous SNV M603V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 11.47 121488 chr2 85536459 85536459 C G rs144847789 TCF7L1 Synonymous SNV P547P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 13.09 121489 chr2 178097229 178097229 G A NFE2L2 Nonsynonymous SNV A132V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 121490 chr12 113379649 113379649 A G rs767964922 OAS3 Nonsynonymous SNV N151S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 13.15 121491 chr20 36641735 36641735 C T rs34249579 TTI1 Nonsynonymous SNV A162T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 121492 chr2 179460435 179460435 T C rs374058726 TTN Nonsynonymous SNV I10151V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.7 121493 chr2 179483160 179483160 G A TTN Synonymous SNV S6610S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.326 121494 chr20 36841540 36841540 G A rs75356568 KIAA1755 Synonymous SNV V820V 0.01 0.003 0.01 8 12 1 0.021 3 0 0 0 0 4.402 121495 chr17 46655411 46655411 G A rs201123784 HOXB4 Nonsynonymous SNV P91S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.04 121496 chr12 113754789 113754789 C T rs894315104 SLC8B1 Nonsynonymous SNV E218K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.3 121497 chr17 46675426 46675426 C T rs33990581 HOXB6 Synonymous SNV S29S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 16.68 121498 chr2 86769377 86769377 C T rs144255258 CHMP3, RNF103-CHMP3 Nonsynonymous SNV R35K 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 23 121499 chr2 169103872 169103892 GCCGCCGCCGCTGTCACCGGG - rs750479628 STK39 P19_A25del 0.008 0.016 0 2 9 6 0.005 0 0 0 0 0 121500 chr17 46929982 46929982 A G rs17849804 CALCOCO2 Nonsynonymous SNV T231A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 15.54 121501 chr2 202355987 202355987 T G rs199823602 C2CD6 Synonymous SNV R1693R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.094 121502 chr20 43129073 43129073 G A rs139013659 SERINC3 Nonsynonymous SNV P429L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 32 121503 chr17 49350738 49350738 A G rs199983161 UTP18 Nonsynonymous SNV D213G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 121504 chr20 2539220 2539220 G T TMC2 Synonymous SNV G67G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.952 121505 chr2 178681585 178681585 A G rs149795546 PDE11A Nonsynonymous SNV S126P 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 26.3 121506 chr2 179197695 179197695 G A rs759831462 OSBPL6 Nonsynonymous SNV S174N 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 15.88 121507 chr2 179482190 179482190 T A TTN Synonymous SNV S6809S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.661 121508 chr17 54588226 54588226 C T rs899672787 ANKFN1 Nonsynonymous SNV R945C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 121509 chr20 44663630 44663630 C T rs143969641 SLC12A5 Synonymous SNV T55T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 11.79 121510 chr2 20845121 20845121 G A rs201910105 HS1BP3 Synonymous SNV P59P 0.003 0 0 0 3 0 0 0 0 0 0 0 15.27 121511 chr20 30746284 30746284 C T rs78926209 TM9SF4 Synonymous SNV G495G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 17.66 121512 chr17 55729500 55729500 G A rs201798218 MSI2 Synonymous SNV A234A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 121513 chr2 20870667 20870667 A G rs1033853182 GDF7 Nonsynonymous SNV S279G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 121514 chr20 31023874 31023874 A T rs778883995 ASXL1 Nonsynonymous SNV K1059M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 121515 chr12 50745779 50745779 C A rs766535208 FAM186A Synonymous SNV G1612G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.82 121516 chr12 50745783 50745783 T A rs373687267 FAM186A Nonsynonymous SNV Q1611L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.001 121517 chr12 50745785 50745785 A G rs751538608 FAM186A Synonymous SNV A1610A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.007 121518 chr12 50745791 50745791 C G rs144970699 FAM186A Synonymous SNV A1608A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.424 121519 chr2 180016047 180016047 C G rs764104779 SESTD1 Synonymous SNV G147G 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 13.23 121520 chr2 192160932 192160932 T G MYO1B Nonsynonymous SNV F77L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 121521 chr2 196545110 196545110 T C SLC39A10 Nonsynonymous SNV L115S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 121522 chr2 211306083 211306083 A C rs143543405 LANCL1 Nonsynonymous SNV F164L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 121523 chr2 21225951 21225951 C A rs765681925 APOB Nonsynonymous SNV V4115F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 22.5 121524 chr20 33575964 33575965 AT - rs571047145 MYH7B M538Vfs*23 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 121525 chr17 61512449 61512449 G A rs144041303 CYB561 Synonymous SNV L187L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.544 121526 chr17 61561853 61561853 C T rs138812566 ACE Synonymous SNV P624P 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.34 121527 chr2 20197017 20197017 C T rs200780340 MATN3 Nonsynonymous SNV R391H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 21 121528 chr12 132528724 132528724 C T rs61944617 EP400 Synonymous SNV D2151D 0.01 0.01 0.014 5 12 4 0.013 4 0 0 0 0 Benign 0.006 121529 chr12 132625027 132625027 G A rs61942919 DDX51 Synonymous SNV R538R 0.01 0.008 0.014 5 12 3 0.013 4 0 0 0 0 3.055 121530 chr12 132625885 132625885 G A rs368711716 DDX51 Synonymous SNV S395S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.509 121531 chr17 63097079 63097079 C T rs4790961 LOC100507002 0 0 0.048 0 0 0 0 14 0 0 6 0 7.939 121532 chr2 202262294 202262294 T C rs748105067 TRAK2 Nonsynonymous SNV I234V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 121533 chr20 3653495 3653495 G A rs3918394 ADAM33 Nonsynonymous SNV A395V 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 Likely benign 23.7 121534 chr20 3655284 3655284 C T rs150302228 ADAM33 Nonsynonymous SNV R156Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.462 121535 chr20 57429521 57429521 G A rs752141160 GNAS Nonsynonymous SNV D401N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.84 121536 chr2 218683157 218683157 C T rs560632147 TNS1 Nonsynonymous SNV G1175S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.65 121537 chr17 64876773 64876773 C T rs149159754 CACNG5 Nonsynonymous SNV T128M 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 26.4 121538 chr2 219028937 219028937 C T rs149021594 CXCR1 Nonsynonymous SNV R333H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.29 121539 chr20 58645791 58645791 - G rs144605204 C20orf197 0 0.005 0 0 0 2 0 0 0 0 0 0 121540 chr20 368890 368890 G C rs61740295 TRIB3 Nonsynonymous SNV G79A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 121541 chr17 65714079 65714079 G A rs764864587 NOL11 Nonsynonymous SNV E6K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 121542 chr20 5987170 5987170 A G rs753189895 CRLS1 Nonsynonymous SNV Q93R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.377 121543 chr13 21361707 21361707 C T rs35518636 XPO4 Synonymous SNV L1026L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.05 121544 chr17 7011807 7011807 G A rs576242723 ASGR2 Nonsynonymous SNV T90M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 121545 chr13 25266967 25266967 C A rs779263873 ATP12A Nonsynonymous SNV S443Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23 121546 chr13 26620738 26620738 G A rs145201830 SHISA2 Synonymous SNV D267D 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 0.21 121547 chr13 27255226 27255226 C T rs145774948 WASF3 Nonsynonymous SNV P248L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24.2 121548 chr2 21235202 21235202 C T rs780817600 APOB Nonsynonymous SNV R1513Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 1.781 121549 chr17 7192869 7192869 G C rs200432202 YBX2 Nonsynonymous SNV R342G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 121550 chr13 31513900 31513900 T C rs139118056 TEX26 Nonsynonymous SNV V44A 0.005 0.003 0.003 6 6 1 0.015 1 0 0 0 0 0.003 121551 chr2 223158448 223158448 C A rs750122824 PAX3 Synonymous SNV S205S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.309 121552 chr17 7224753 7224753 C T rs753737197 NEURL4 Nonsynonymous SNV R1040Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 121553 chr2 217543783 217543783 G A rs139288422 IGFBP5 Synonymous SNV H119H 0.01 0.005 0.01 6 12 2 0.015 3 0 0 0 0 10.22 121554 chr20 47248885 47248885 C A rs111654927 PREX1 Nonsynonymous SNV A1486S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 17.53 121555 chr13 32937521 32937521 G A rs28897749 BRCA2 Nonsynonymous SNV V2728I 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 Benign 0.002 121556 chr13 33017480 33017480 T C rs139308263 N4BP2L2 Synonymous SNV E383E 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 2.823 121557 chr2 208993004 208993004 C T CRYGC Nonsynonymous SNV E150K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 121558 chr17 7256880 7256880 C T rs756747361 KCTD11 Nonsynonymous SNV H207Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 121559 chr2 219492952 219492952 C T rs61733653 PLCD4 Nonsynonymous SNV R325W 0.004 0 0.003 0 5 0 0 1 0 0 0 0 25.4 121560 chr20 62324292 62324292 C T rs115030322 RTEL1 Synonymous SNV A706A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.11 121561 chr17 7287345 7287345 G A rs994968042 TNK1 Synonymous SNV P213P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.358 121562 chr2 228564106 228564106 C T rs780569649 SLC19A3 Nonsynonymous SNV V109I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 13.86 121563 chr20 62891325 62891325 G A PCMTD2 Nonsynonymous SNV G3S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 121564 chr20 50346491 50346491 C A rs142435125 ATP9A Nonsynonymous SNV G32V 0.015 0.008 0.007 6 18 3 0.015 2 0 0 0 1 Benign 22.7 121565 chr2 21246497 21246497 G A rs887351339 APOB Nonsynonymous SNV A835V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 21.2 121566 chr2 220313760 220313760 C A rs916651769 SPEG Nonsynonymous SNV P627H 0.003 0 0 0 3 0 0 0 0 0 0 0 2.808 121567 chr20 52193216 52193216 T C rs577225714 ZNF217 Nonsynonymous SNV N696S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 121568 chr20 52198138 52198138 T C rs6068589 ZNF217 Nonsynonymous SNV M410V 0.009 0.01 0.027 7 11 4 0.018 8 0 0 0 1 0.002 121569 chr2 220504370 220504370 C T rs757002521 SLC4A3 Nonsynonymous SNV R1091C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 121570 chr20 57234687 57234687 C T rs73598392 STX16 Synonymous SNV D47D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.34 121571 chr20 57429499 57429499 - GCAGCCCCT rs577386316 GNAS P336_Q337insLQP 0.001 0 0 0 1 0 0 0 0 0 0 0 121572 chr13 48951163 48951163 G C RB1 Nonsynonymous SNV G442A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.5 121573 chr2 234590969 234590969 A G rs56385016 UGT1A7 Nonsynonymous SNV N129S 0.005 0.003 0.02 1 6 1 0.003 6 0 0 0 0 0.162 121574 chr13 49906086 49906086 A - CAB39L F277Lfs*19 0.001 0.003 0 0 1 1 0 0 0 0 0 0 121575 chr2 234701530 234701530 G A rs183552207 MROH2A Synonymous SNV A220A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.98 121576 chr2 233388824 233388824 T G rs566840716 PRSS56 Nonsynonymous SNV L421R 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 26.1 121577 chr12 97023939 97023939 A T rs74466340 CFAP54 Nonsynonymous SNV N1391I 0.004 0 0 0 5 0 0 0 0 0 0 0 0.188 121578 chr12 97024355 97024355 A C rs4762159 CFAP54 Nonsynonymous SNV R1414S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.106 121579 chr21 41143006 41143006 C T rs199978079 IGSF5 Synonymous SNV S194S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.76 121580 chr12 83251285 83251285 G A rs760738283 TMTC2 Nonsynonymous SNV A194T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 121581 chr12 85277610 85277610 G A rs144608535 SLC6A15 Synonymous SNV L262L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.29 121582 chr17 78169374 78169374 C T rs61751630 CARD14 Nonsynonymous SNV P269L 0.009 0.003 0.007 4 10 1 0.01 2 0 0 0 0 Benign 5.07 121583 chr2 234580678 234580678 T C rs72551330 UGT1A9 Nonsynonymous SNV M33T 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 9.193 121584 chr17 78210734 78210734 C T rs761405585 SLC26A11 Synonymous SNV N248N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 121585 chr2 241517198 241517198 G A rs148341098 RNPEPL1 Synonymous SNV T689T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.076 121586 chr17 79031718 79031718 G C BAIAP2 Synonymous SNV L56L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.236 121587 chr21 43547190 43547190 C T rs369035809 UMODL1 Nonsynonymous SNV S1179F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.3 121588 chr17 79093265 79093270 GGGAGC - AATK A1229_P1230del 0 0 0.003 0 0 0 0 1 0 0 0 0 121589 chr2 242437715 242437715 G C rs755920494 STK25 Nonsynonymous SNV P323A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 121590 chr21 43938589 43938589 C T rs546388927 SLC37A1 Nonsynonymous SNV R9C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.1 121591 chr13 108518707 108518715 GCTGCTGCC - rs764534910 FAM155A R77_Q79del 0.003 0.005 0 0 4 2 0 0 0 0 0 0 121592 chr13 108518727 108518727 T C rs80103752 FAM155A Nonsynonymous SNV Q73R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.026 121593 chr20 825933 825933 G T FAM110A Synonymous SNV S162S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 121594 chr20 8755197 8755197 G A rs779771720 PLCB1 Nonsynonymous SNV S981N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 121595 chr3 157817720 157817720 C T rs200467564 SHOX2 Nonsynonymous SNV A211T 0.001 0 0 0 1 0 0 0 0 0 0 0 35 121596 chr21 45671068 45671068 C T rs556961723 DNMT3L-AS1 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.364 121597 chr2 234377185 234377185 C T rs139085833 DGKD Nonsynonymous SNV R1137W 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 35 121598 chr21 19687548 19687548 T C rs749506886 TMPRSS15 Synonymous SNV Q649Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 121599 chr2 234703147 234703147 A G MROH2A Nonsynonymous SNV T321A 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 11.63 121600 chr21 30439309 30439309 T C rs141938387 CCT8 Synonymous SNV R82R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.972 121601 chr21 46935970 46935970 G A rs201021365 SLC19A1 Nonsynonymous SNV R420W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 121602 chr2 27886701 27886701 G A rs149066867 SLC4A1AP Nonsynonymous SNV G28R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.543 121603 chr21 47602691 47602691 C T rs143719440 SPATC1L Nonsynonymous SNV E14K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 31 121604 chr2 238280553 238280553 G A rs35114079 COL6A3 Synonymous SNV I762I 0.012 0.018 0.003 4 14 7 0.01 1 1 0 0 0 Benign/Likely benign 2.858 121605 chr21 36042619 36042619 T C CLIC6 Nonsynonymous SNV I311T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 121606 chr2 27279583 27279583 C A rs369251730 AGBL5 Synonymous SNV A486A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 18.11 121607 chr2 27799943 27799943 A C C2orf16 Synonymous SNV A168A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.029 121608 chr18 13100377 13100377 T C rs117901677 CEP192 Nonsynonymous SNV F2246S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.164 121609 chr21 38600576 38600576 C T rs536768285 VPS26C Synonymous SNV S77S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 121610 chr3 183777650 183777650 G A rs148492552 HTR3C Synonymous SNV V320V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.471 121611 chr18 21046196 21046196 C T rs774183551 RIOK3 Nonsynonymous SNV R199C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 121612 chr12 124017747 124017747 T A rs769589518 RILPL1 Nonsynonymous SNV I95F 0.003 0 0 0 4 0 0 0 0 0 0 0 15.84 121613 chr12 124228392 124228392 C G rs147833091 ATP6V0A2 Nonsynonymous SNV P367A 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 121614 chr12 124817779 124817779 C T rs61754987 NCOR2 Nonsynonymous SNV G2208S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.46 121615 chr22 20918817 20918825 CAGCAGCAG - rs769654858 MED15 Q115_Q117del 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 121616 chr2 242004801 242004801 G A rs202158955 SNED1 Nonsynonymous SNV A934T 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 11.93 121617 chr18 29450901 29450901 C T rs141100835 TRAPPC8 Nonsynonymous SNV A749T 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 25 121618 chr2 43934572 43934572 G C rs768134214 PLEKHH2 Synonymous SNV L618L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 121619 chr21 43524018 43524018 G A rs146310440 UMODL1 Nonsynonymous SNV R447Q 0.018 0.013 0.027 8 21 5 0.021 8 1 0 0 0 0.831 121620 chr18 31324629 31324629 G A rs116363417 ASXL3 Nonsynonymous SNV R1606Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26 121621 chr21 43531325 43531325 C T rs114358105 UMODL1 Stop gain Q593X 0.018 0.013 0.027 8 21 5 0.021 8 1 0 0 0 33 121622 chr2 44065003 44065003 C T rs142125966 ABCG5 Nonsynonymous SNV G79R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 121623 chr14 23538741 23538741 G C ACIN1 Nonsynonymous SNV Q68E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.318 121624 chr18 40323567 40323567 C T rs148544378 RIT2 Nonsynonymous SNV R182H 0.006 0.013 0.01 0 7 5 0 3 0 0 0 0 31 121625 chr18 42643426 42643426 G A rs574196735 SETBP1 Synonymous SNV E1518E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.298 121626 chr2 26534707 26534707 C A rs565818489 ADGRF3 Nonsynonymous SNV R431L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.051 121627 chr21 45846595 45846595 C T rs200421587 TRPM2 Nonsynonymous SNV A1283V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.336 121628 chr2 26534710 26534710 G T rs1040250759 ADGRF3 Nonsynonymous SNV T430N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.259 121629 chr18 44190776 44190776 T C rs191697915 LOXHD1 Nonsynonymous SNV N241S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.94 121630 chr2 58431329 58431329 A T FANCL Nonsynonymous SNV I136N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 32 121631 chr18 45101089 45101089 T C rs766345437 MIR4527HG 0 0 0.003 0 0 0 0 1 0 0 0 0 1.211 121632 chr2 43801911 43801911 G A rs17031074 THADA Synonymous SNV F431F 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 4.141 121633 chr2 63631303 63631303 C T rs199676595 WDPCP Nonsynonymous SNV V280I 0.003 0.003 0 4 4 1 0.01 0 0 0 0 1 Conflicting interpretations of pathogenicity 17.9 121634 chr2 65299460 65299460 T C rs147566910 CEP68 Synonymous SNV R410R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 3.272 121635 chr14 26939689 26939689 T A rs778433598 NOVA1 Nonsynonymous SNV N176I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.1 121636 chr22 30770402 30770403 TG - rs781778838 KIAA1656 0.004 0.005 0 0 5 2 0 0 0 0 0 0 121637 chr2 54197829 54197829 C A rs78645734 PSME4 Nonsynonymous SNV E31D 0.02 0.018 0.031 6 24 7 0.015 9 0 0 0 0 15.39 121638 chr2 55561896 55561896 A G rs7589558 CCDC88A Synonymous SNV F687F 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 2.324 121639 chr3 32398908 32398908 A G CMTM8 Nonsynonymous SNV Y64C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 121640 chr2 61238908 61238908 G C PUS10 Nonsynonymous SNV P40A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.12 121641 chr18 61564449 61564449 G A rs760053054 SERPINB2 Nonsynonymous SNV R138Q 0.003 0.01 0.003 0 4 4 0 1 0 1 0 0 14.86 121642 chr18 63430162 63430162 A G rs7229292 CDH7 Synonymous SNV E28E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.028 121643 chr2 72371119 72371119 T C CYP26B1 Nonsynonymous SNV K143R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 121644 chr22 19789723 19789723 C T rs201224032 GNB1L Nonsynonymous SNV R178H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 121645 chr14 45432522 45432522 C T TOGARAM1 Nonsynonymous SNV P300S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 20.9 121646 chr22 32019800 32019800 A C rs772273910 PISD Nonsynonymous SNV L43R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 27.4 121647 chr2 37455362 37455362 G C CEBPZ Stop gain S325X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 121648 chr3 38645412 38645412 G A rs45522138 SCN5A Synonymous SNV L561L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.9 121649 chr22 21800049 21800049 G A rs138601828 HIC2 Nonsynonymous SNV V289I 0.004 0.003 0.017 0 5 1 0 5 0 0 0 0 1.238 121650 chr22 22042393 22042393 C T rs778948703 PPIL2 Nonsynonymous SNV T340M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 121651 chr22 22293813 22293813 G C LOC100286925 0.001 0 0 0 1 0 0 0 0 0 0 0 0.98 121652 chr22 22323003 22323003 C A rs114760416 TOP3B Synonymous SNV V242V 0.003 0 0.014 1 4 0 0.003 4 0 0 0 0 18.51 121653 chr3 42676735 42676735 C G NKTR Stop gain S347X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 121654 chr22 23465567 23465567 G A rs144385269 GNAZ Synonymous SNV A339A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 121655 chr2 45169819 45169819 C T rs182881 SIX3 Synonymous SNV R192R 0.014 0.026 0.02 3 17 10 0.008 6 0 0 0 0 Benign 17.73 121656 chr18 77401892 77401892 G A rs59657947 LOC284241 0 0 0.017 0 0 0 0 5 0 0 1 0 0.783 121657 chr18 907741 907741 C A rs766699933 ADCYAP1 Synonymous SNV P64P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 121658 chr2 74326640 74326640 G T rs776533637 TET3 Nonsynonymous SNV A1076S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 121659 chr2 79386526 79386526 C A rs143355005 REG3A Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.49 121660 chr2 85035641 85035641 T C DNAH6 Nonsynonymous SNV F3905S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 121661 chr2 85097565 85097565 G A TRABD2A Synonymous SNV Y151Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.915 121662 chr2 85820138 85820138 G A rs202148458 VAMP5 Nonsynonymous SNV R70Q 0.002 0 0 0 2 0 0 0 0 0 0 0 17.38 121663 chr13 76378633 76378633 T C rs150972843 LMO7 Synonymous SNV S57S 0.003 0 0 0 4 0 0 0 0 0 0 0 9.702 121664 chr2 99172078 99172092 GCTGCAGAAGGAGCG - rs372335775 INPP4A Q545_L549del 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 121665 chr2 99992904 99992904 A G rs1004507982 EIF5B Synonymous SNV E549E 0.003 0 0 0 3 0 0 0 0 0 0 0 7.775 121666 chr19 10468699 10468699 A T TYK2 Nonsynonymous SNV L764Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 121667 chr14 64936360 64936360 C T rs61755982 AKAP5 Synonymous SNV A416A 0.009 0.01 0 1 11 4 0.003 0 1 0 0 0 14.77 121668 chr14 64954703 64954703 C T rs147617886 ZBTB25 Synonymous SNV T82T 0.009 0.01 0 1 11 4 0.003 0 1 0 0 0 13.25 121669 chr19 11097256 11097256 C T rs756224211 SMARCA4 Synonymous SNV Y249Y 0 0.008 0.007 0 0 3 0 2 0 0 0 0 Benign/Likely benign 7.205 121670 chr22 45132853 45132853 C T rs187629442 PRR5 Nonsynonymous SNV P203L 0.013 0.013 0.003 3 15 5 0.008 1 0 0 0 0 4.793 121671 chr19 11285256 11285256 C T rs199981469 KANK2 Nonsynonymous SNV R662Q 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 23.8 121672 chr3 10261371 10261371 C T rs780730043 IRAK2 Nonsynonymous SNV S304L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.97 121673 chr19 12384438 12384438 A G ZNF44 Nonsynonymous SNV L179S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.632 121674 chr3 10291094 10291094 C T rs149070309 TATDN2 Synonymous SNV S70S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.1 121675 chr3 10312076 10312076 G A rs142076830 TATDN2 Nonsynonymous SNV D404N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.55 121676 chr19 12886253 12886253 T A rs201756603 HOOK2 Nonsynonymous SNV D4V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 121677 chr3 108476025 108476025 G A rs754743837 RETNLB Nonsynonymous SNV P3L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.15 121678 chr3 108677855 108677855 T C rs898367607 MORC1 Nonsynonymous SNV H971R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 121679 chr3 11067200 11067200 G A rs33948309 SLC6A1 Synonymous SNV T82T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 12.97 121680 chr13 103400141 103400141 A - CCDC168 L969Wfs*8 0 0 0 2 0 0 0.005 0 0 0 0 0 121681 chr22 37699387 37699387 G A rs146595470 CYTH4 Nonsynonymous SNV V157M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 121682 chr22 50436496 50436496 C T IL17REL Synonymous SNV V259V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.41 121683 chr19 14857719 14857719 C T rs377454798 ADGRE2 Nonsynonymous SNV A636T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 7.441 121684 chr22 37906365 37906365 T - CARD10 R255Gfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 121685 chr13 103698510 103698510 A T rs201690389 SLC10A2 Nonsynonymous SNV N340K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.34 121686 chr3 52677317 52677317 T A rs990971117 PBRM1 Synonymous SNV S314S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 121687 chr22 38120668 38120668 A G rs202079450 TRIOBP Nonsynonymous SNV Q702R 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Likely benign 1.464 121688 chr3 112324305 112324305 A G rs114697626 CCDC80 Nonsynonymous SNV Y938H 0.009 0.008 0.007 5 11 3 0.013 2 0 0 0 0 Likely benign 23.4 121689 chr2 85826763 85826763 G C rs760088405 TMEM150A Synonymous SNV L153L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.266 121690 chr3 112356913 112356913 C T rs375258718 CCDC80 Nonsynonymous SNV D614N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22 121691 chr22 38155463 38155463 C A rs747170301 TRIOBP Nonsynonymous SNV P409T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 121692 chr13 110827079 110827079 C T rs188620231 COL4A1 Synonymous SNV A1072A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 13.05 121693 chr13 111102770 111102770 C T rs78615289 COL4A2 Synonymous SNV P436P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 10.39 121694 chr13 114083338 114083338 C A rs754691717 ADPRHL1 Nonsynonymous SNV W192L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 121695 chr13 111115381 111115381 C G rs114745311 COL4A2-AS2 Nonsynonymous SNV E21Q 0 0 0 2 0 0 0.005 0 0 0 0 0 6.724 121696 chr14 81574914 81574914 G A rs182437826 TSHR Synonymous SNV S238S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.68 121697 chr19 15568123 15568123 G A rs142945276 RASAL3 Nonsynonymous SNV R471W 0.005 0 0.003 0 6 0 0 1 0 0 0 0 34 121698 chr14 81972441 81972441 T C rs11499034 SEL1L Nonsynonymous SNV D162G 0.012 0.01 0.014 4 14 4 0.01 4 0 0 0 0 24.3 121699 chr2 71654523 71654523 A G rs974623945 ZNF638 Nonsynonymous SNV M1842V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.951 121700 chr3 113795610 113795610 C T QTRT2 Synonymous SNV I83I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.24 121701 chr19 15587104 15587104 G A rs147463355 PGLYRP2 Nonsynonymous SNV A126V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.979 121702 chr3 11606439 11606439 G A rs62636598 VGLL4 Synonymous SNV S23S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.3 121703 chr22 40161598 40161598 G T rs140918120 ENTHD1 Synonymous SNV L283L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 0.073 121704 chr2 97357270 97357270 G A rs985389957 FER1L5 Nonsynonymous SNV R999H 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 10.98 121705 chr3 57640506 57640506 C A PDE12 Nonsynonymous SNV Q515K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.081 121706 chr14 93399140 93399140 C T rs750853273 CHGA Stop gain R261X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 121707 chr3 121341019 121341019 A T rs142436040 FBXO40 Nonsynonymous SNV K248I 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 0.082 121708 chr3 64672566 64672566 G C rs192420947 ADAMTS9 Nonsynonymous SNV T65R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.88 121709 chr3 69167987 69167987 C T rs149196259 LMOD3 Nonsynonymous SNV E507K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 33 121710 chr2 102034092 102034092 G - RFX8 Stop gain L136* 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 121711 chr2 103321076 103321076 G A rs144961744 SLC9A2 Nonsynonymous SNV R640Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 35 121712 chr3 122667454 122667454 A T rs145228820 SEMA5B Nonsynonymous SNV L18Q 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 28.2 121713 chr3 125876232 125876232 C G rs1035811520 ALDH1L1 Nonsynonymous SNV S171T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 121714 chr22 46704798 46704798 G A rs548602439 GTSE1 Synonymous SNV A240A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.111 121715 chr3 127298917 127298917 T C rs148260197 TPRA1 Nonsynonymous SNV S25G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 121716 chr2 108609486 108609486 G A rs368109143 SLC5A7 Synonymous SNV P12P 0 0.005 0 0 0 2 0 0 0 0 0 0 11.55 121717 chr3 9876485 9876485 C T rs200645718 ARPC4-TTLL3, TTLL3 Stop gain R620X 0.003 0 0 0 4 0 0 0 0 0 0 0 35 121718 chr3 128722737 128722737 C A rs955110100 EFCC1 Nonsynonymous SNV A266E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 121719 chr2 113496522 113496522 C T rs759040662 CKAP2L Nonsynonymous SNV E541K 0 0.005 0 0 0 2 0 0 0 0 0 0 35 121720 chr19 19674344 19674344 G A PBX4 Nonsynonymous SNV P336S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.487 121721 chr3 12942760 12942760 C G rs185165059 IQSEC1 Nonsynonymous SNV A1023P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 0.088 121722 chr3 12950002 12950002 C T rs17541405 IQSEC1 Nonsynonymous SNV V868I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Likely benign 19.05 121723 chr19 2108752 2108752 C T rs137960645 AP3D1 Synonymous SNV V1100V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 121724 chr19 2291125 2291125 G A rs77561854 LINGO3 Synonymous SNV N217N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.741 121725 chr4 109677599 109677599 G A ETNPPL Nonsynonymous SNV H71Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 121726 chr2 135870769 135870769 C T rs140929274 RAB3GAP1 Synonymous SNV D137D 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.99 121727 chr15 23006299 23006299 - TCA rs576755299 NIPA2 N315_E316insD 0.006 0.01 0.02 0 7 4 0 6 0 0 0 0 121728 chr19 29703987 29703987 G T rs907234512 UQCRFS1 Synonymous SNV P13P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.176 121729 chr2 110332215 110332215 C T rs191123260 SEPTIN10 Synonymous SNV P48P 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 10.61 121730 chr3 141162232 141162232 C T rs748178500 ZBTB38 Synonymous SNV A334A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.596 121731 chr3 142269106 142269106 T G rs147286949 ATR Synonymous SNV A884A 0.006 0 0 0 7 0 0 0 0 0 0 0 Benign/Likely benign 10.9 121732 chr2 11338664 11338664 C T rs780090672 ROCK2 Nonsynonymous SNV A932T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 19.88 121733 chr2 152319938 152319938 T G RIF1 Nonsynonymous SNV S1302A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.631 121734 chr3 142839681 142839681 C T rs545988820 CHST2 Nonsynonymous SNV A8V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.5 121735 chr3 149042712 149042712 C T rs151260047 TM4SF18 Nonsynonymous SNV R122H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.7 121736 chr4 126240881 126240881 C T rs374329069 FAT4 Synonymous SNV Y1105Y 0.003 0 0 0 4 0 0 0 0 0 0 0 3.409 121737 chr4 126320038 126320038 A G rs145639192 FAT4 Nonsynonymous SNV I1759V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.4 121738 chr2 159195308 159195308 A G rs139201830 CCDC148 Nonsynonymous SNV F86L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 121739 chr3 128651670 128651670 T C rs554275842 KIAA1257 Nonsynonymous SNV N584S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.001 121740 chr3 129130022 129130022 G A rs180881254 EFCAB12 Synonymous SNV R338R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.88 121741 chr19 36205631 36205631 G A rs564214684 ZBTB32 Nonsynonymous SNV V35I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 121742 chr2 16082844 16082844 G T rs745414155 MYCN Nonsynonymous SNV A220S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.289 121743 chr15 41165665 41165665 G C rs766790132 RHOV Nonsynonymous SNV P101R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 121744 chr19 36590309 36590309 C T rs144697999 WDR62 Synonymous SNV D843D 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.74 121745 chr4 139140513 139140513 G A rs186693425 SLC7A11 Nonsynonymous SNV T218M 0.003 0 0 0 4 0 0 0 0 0 0 0 33 121746 chr19 36616576 36616576 T A rs377070718 TBCB Nonsynonymous SNV N209K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 121747 chr4 141294853 141294853 C A SCOC Nonsynonymous SNV P55T 0.004 0 0 0 5 0 0 0 0 0 0 0 9.473 121748 chr3 164739037 164739037 C T rs56082035 SI Synonymous SNV R1078R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.21 121749 chr2 133174637 133174637 G C GPR39 Nonsynonymous SNV G8R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.176 121750 chr3 136701093 136701093 A G rs147237103 IL20RB Nonsynonymous SNV I103V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.392 121751 chr14 62541952 62541952 A G rs201659397 SYT16 Nonsynonymous SNV D98G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.286 121752 chr19 38315100 38315100 C T LOC100631378 0 0 0.003 0 0 0 0 1 0 0 0 0 7.537 121753 chr2 139428730 139428730 T C rs201929664 NXPH2 Nonsynonymous SNV N186S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 121754 chr2 170063471 170063471 A G rs35114151 LRP2 Synonymous SNV D2253D 0.014 0.026 0.02 5 17 10 0.013 6 0 0 0 0 Likely benign 1.78 121755 chr2 170097707 170097707 T G rs17848149 LRP2 Nonsynonymous SNV D1279A 0.014 0.026 0.02 4 16 10 0.01 6 0 0 0 0 Likely benign 0.758 121756 chr19 38817986 38817988 GTC - rs749223512 KCNK6 S296del 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 121757 chr19 38817991 38817991 A C rs762059409 KCNK6 Nonsynonymous SNV H297P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.277 121758 chr2 152321890 152321890 T C rs756019996 RIF1 Synonymous SNV S1952S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.344 121759 chr15 51223159 51223159 A G AP4E1 Nonsynonymous SNV D212G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24 121760 chr19 39591277 39591277 G A rs149656463 ACP7 Stop gain W229X 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 41 121761 chr2 172844220 172844220 G A rs546307144 HAT1 Nonsynonymous SNV E346K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 121762 chr19 40423979 40423979 G A rs147473591 FCGBP Nonsynonymous SNV P742S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 121763 chr2 179611359 179611359 A T rs138826545 TTN Nonsynonymous SNV H5256Q 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Uncertain significance 11.85 121764 chr3 186360291 186360291 T C rs371628207 FETUB Nonsynonymous SNV M86T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 121765 chr19 41071430 41071430 G A rs139699793 SPTBN4 Nonsynonymous SNV R2006Q 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 23.2 121766 chr3 186980390 186980390 C T rs141761989 MASP1 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 121767 chr2 166797556 166797556 T A rs149925563 TTC21B Nonsynonymous SNV T231S 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 121768 chr3 158541980 158541980 C T rs376941891 MFSD1 Nonsynonymous SNV R376W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.34 121769 chr3 192992987 192992987 G C rs200117973 ATP13A5 Nonsynonymous SNV D1167E 0.004 0 0 2 5 0 0.005 0 0 0 0 0 11.7 121770 chr19 4361656 4361656 C T rs150388848 SH3GL1 Nonsynonymous SNV G302S 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 24.7 121771 chr3 194061922 194061922 C T rs145013670 CPN2 Nonsynonymous SNV V504I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 121772 chr2 170063263 170063263 G A rs149367019 LRP2 Synonymous SNV L2323L 0.003 0.005 0.014 8 4 2 0.021 4 0 0 0 0 Benign/Likely benign 6.299 121773 chr19 44377614 44377614 G A rs76483217 ZNF404 Nonsynonymous SNV T248M 0.017 0.018 0.017 5 20 7 0.013 5 2 0 0 0 22.2 121774 chr3 169485336 169485336 A G rs112334854 ACTRT3 Nonsynonymous SNV S335P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 27.6 121775 chr3 194182891 194182891 T A rs773820460 ATP13A3 Nonsynonymous SNV N10I 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 121776 chr3 169555275 169555275 A G rs112011297 LRRIQ4 Synonymous SNV A513A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 2.586 121777 chr3 193272443 193272456 GTGTGTGTGTGTGT - ATP13A4-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 121778 chr15 67529094 67529094 G C rs199933646 AAGAB Synonymous SNV P46P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.75 121779 chr15 68119906 68119906 G A rs533042998 SKOR1 Synonymous SNV P580P 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 5.621 121780 chr2 190719607 190719607 G A rs151325573 PMS1 Nonsynonymous SNV E361K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Likely benign 10.4 121781 chr3 182553920 182553920 A G rs61741000 ATP11B Nonsynonymous SNV K138R 0.003 0.013 0.003 3 4 5 0.008 1 0 0 0 0 13.17 121782 chr3 197260386 197260386 G A rs141146905 BDH1 Nonsynonymous SNV R44W 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 121783 chr2 179393389 179393389 C G rs199531140 TTN Nonsynonymous SNV E26632Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 121784 chr3 19924054 19924054 T A rs895759415 EFHB Nonsynonymous SNV R772S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 121785 chr15 74277020 74277020 T C rs764993042 STOML1 Nonsynonymous SNV Y278C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 121786 chr15 74317263 74317263 G C rs145863996 PML Nonsynonymous SNV D417H 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 23.6 121787 chr3 27329212 27329212 C T rs369302874 NEK10 Nonsynonymous SNV R589H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 121788 chr3 25640934 25640934 T C rs17016865 TOP2B Nonsynonymous SNV T1563A 0.009 0.013 0.003 2 10 5 0.005 1 0 0 0 0 Benign 0.001 121789 chr3 25650812 25650812 T C rs17016875 TOP2B Nonsynonymous SNV T1314A 0.009 0.013 0.003 2 11 5 0.005 1 0 0 0 0 7.789 121790 chr19 46256945 46256945 G A rs770440554 BHMG1 Nonsynonymous SNV R152Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.68 121791 chr2 179468729 179468729 C T rs116142642 TTN Nonsynonymous SNV V9164M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.91 121792 chr3 33576830 33576830 A T CLASP2 Nonsynonymous SNV S1016T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 121793 chr2 179477690 179477690 A G rs72677247 TTN Synonymous SNV Y7521Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 121794 chr2 179516471 179516471 C T rs774557269 TTN Nonsynonymous SNV V10695I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 121795 chr3 186459384 186459384 C A rs3190568 KNG1 Nonsynonymous SNV T364K 0.005 0.01 0.003 3 6 4 0.008 1 0 0 0 0 9.022 121796 chr3 38411606 38411606 G T rs137869174 XYLB Nonsynonymous SNV A99S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 121797 chr15 79586782 79586782 C G rs118125046 ANKRD34C Nonsynonymous SNV P386A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 121798 chr3 36778913 36778913 T C DCLK3 Nonsynonymous SNV N413S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 121799 chr19 48305279 48305279 G C rs144013839 TPRX1 Nonsynonymous SNV P330R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.91 121800 chr15 82335761 82335761 C T rs151042956 MEX3B Nonsynonymous SNV G484S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.73 121801 chr19 4852236 4852236 C T rs35640392 PLIN3 Synonymous SNV T142T 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 10.18 121802 chr3 40085729 40085729 A G rs78333608 MYRIP Nonsynonymous SNV K100R 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 11.92 121803 chr19 48967789 48967789 C T KCNJ14 Nonsynonymous SNV P356S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 121804 chr3 40085730 40085730 G A rs75059664 MYRIP Nonsynonymous SNV R57K 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 6.647 121805 chr19 49002214 49002214 G A rs368551469 LMTK3 Synonymous SNV P733P 0 0.005 0.003 1 0 2 0.003 1 0 1 0 0 1.641 121806 chr2 210860277 210860277 G A rs138970658 UNC80 Synonymous SNV E3221E 0.006 0.013 0.007 2 7 5 0.005 2 0 0 0 0 Benign 1.338 121807 chr2 211070402 211070402 C G rs146511220 ACADL Nonsynonymous SNV G241A 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 Likely benign 29.1 121808 chr2 211070498 211070498 A - rs763251535 ACADL Stop gain L209* 0.003 0.005 0 0 4 2 0 0 0 0 0 0 121809 chr4 47939240 47939240 C T rs192912733 CNGA1 Nonsynonymous SNV R493Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 121810 chr3 43121945 43121945 T G POMGNT2 Nonsynonymous SNV T327P 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 0.018 121811 chr3 44685208 44685208 T A rs141912234 ZNF197, ZNF660-ZNF197 Synonymous SNV I649I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.96 121812 chr3 44843454 44843454 T C rs779921572 KIF15 Synonymous SNV T499T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.666 121813 chr3 19924164 19924164 G A rs758950065 EFHB Nonsynonymous SNV R736C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.1 121814 chr2 218712260 218712260 C T rs146606722 TNS1 Nonsynonymous SNV E869K 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Likely benign 24.7 121815 chr3 25639821 25639821 C T rs187350468 TOP2B Nonsynonymous SNV V1615I 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 13.19 121816 chr2 219249073 219249073 C T SLC11A1 Synonymous SNV A86A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 15.63 121817 chr4 5749976 5749976 G T rs148418233 EVC Synonymous SNV T347T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.922 121818 chr4 57796119 57796119 C T rs139443175 REST Synonymous SNV H365H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.81 121819 chr15 26107946 26107946 C G rs140289242 ATP10A Nonsynonymous SNV V100L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Likely benign 25.6 121820 chr2 219507745 219507745 C T rs201712794 ZNF142 Nonsynonymous SNV R1165H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.9 121821 chr4 5862865 5862865 G A rs145307270 CRMP1 Synonymous SNV P181P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 121822 chr19 50789902 50789902 G A rs150029590 MYH14 Nonsynonymous SNV R1527Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 121823 chr19 5111805 5111805 G C rs192528253 KDM4B Nonsynonymous SNV D379H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 121824 chr15 91295059 91295059 A C rs202042636 BLM Nonsynonymous SNV H281P 0.003 0.013 0 0 3 5 0 0 0 0 0 0 Uncertain significance 7.276 121825 chr15 91500344 91500344 T C RCCD1 Synonymous SNV R56R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.85 121826 chr3 46490488 46490488 G A rs144305401 LTF Nonsynonymous SNV R316W 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 24.9 121827 chr3 46786150 46786150 C T rs72899429 PRSS45P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 17.41 121828 chr15 94942282 94942282 A G rs192362904 MCTP2 Nonsynonymous SNV I215M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.6 121829 chr2 202065200 202065200 G A rs774343013 CASP10 Nonsynonymous SNV R240H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.835 121830 chr2 202546280 202546280 C T rs370307780 MPP4 Nonsynonymous SNV R224Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.9 121831 chr3 40299644 40299644 C T MYRIP Nonsynonymous SNV A669V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 33 121832 chr3 49847804 49847804 C T rs115185290 UBA7 Nonsynonymous SNV V509M 0.006 0 0 0 7 0 0 0 0 0 0 0 25.9 121833 chr2 223917842 223917842 G A rs528501802 KCNE4 Synonymous SNV V149V 0.006 0.005 0 0 7 2 0 0 0 0 0 0 10.22 121834 chr19 52196409 52196409 G A rs41275794 SPACA6P-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 0.716 121835 chr3 49167274 49167274 C A rs572289637 LAMB2 Nonsynonymous SNV R468L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.55 121836 chr3 42679993 42679993 A G rs558337843 NKTR Nonsynonymous SNV T933A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 121837 chr2 207169461 207169461 A G ZDBF2 Nonsynonymous SNV H70R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 121838 chr3 52478954 52478954 C T rs373691162 SEMA3G Synonymous SNV V30V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 12.21 121839 chr19 53432490 53432490 T C rs199931517 ZNF816-ZNF321P Nonsynonymous SNV N123S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.21 121840 chr3 52696191 52696191 A G PBRM1 Synonymous SNV D162D 0.003 0 0 0 4 0 0 0 0 0 0 0 8.796 121841 chr16 511442 511442 C T rs149492456 RAB11FIP3 Synonymous SNV L251L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.07 121842 chr16 569881 569881 C T RAB11FIP3 Nonsynonymous SNV A307V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 121843 chr3 44959404 44959404 C - ZDHHC3 E325Rfs*2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 121844 chr19 54486059 54486059 G A rs562554171 CACNG8 Nonsynonymous SNV A412T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 15.59 121845 chr2 234368468 234368468 C T rs61752229 DGKD Synonymous SNV A876A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 17.32 121846 chr3 36756867 36756867 C A rs35704209 DCLK3 Nonsynonymous SNV E633D 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 25.3 121847 chr3 53221365 53221365 C T rs41295962 PRKCD Synonymous SNV A473A 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 20.2 121848 chr3 45785088 45785088 T A SACM1L Nonsynonymous SNV F503Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.462 121849 chr4 8229132 8229132 A C rs776791403 SH3TC1 Nonsynonymous SNV S495R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 121850 chr16 1270866 1270866 A G rs58535913 CACNA1H Nonsynonymous SNV M2306V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 121851 chr19 54930442 54930442 C T rs763606814 TTYH1 Synonymous SNV C89C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 121852 chr3 46415073 46415075 AGA - rs774845977 CCR5 K229del 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 121853 chr16 1416355 1416355 C T rs75956141 UNKL Nonsynonymous SNV G195R 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 17.4 121854 chr19 54974460 54974460 C A rs149393351 LENG9 Nonsynonymous SNV D84Y 0.02 0.016 0.017 11 24 6 0.028 5 0 0 0 0 29.3 121855 chr16 1488697 1488697 G A rs187437805 CCDC154 Synonymous SNV A316A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 8.827 121856 chr3 63996606 63996606 C T rs140886939 PSMD6 Nonsynonymous SNV G303R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 35 121857 chr3 46747377 46747377 C T rs189895472 TMIE Nonsynonymous SNV S11L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 24.2 121858 chr3 64547392 64547392 C T ADAMTS9 Synonymous SNV R1492R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 121859 chr2 219824674 219824674 G T rs777259963 CDK5R2 Synonymous SNV V44V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.829 121860 chr3 69101216 69101216 G T rs201356844 TMF1 Nonsynonymous SNV Q8K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 121861 chr4 88047314 88047314 G A rs139239111 AFF1 Synonymous SNV S510S 0.015 0.021 0.017 6 18 8 0.015 5 0 0 0 0 7.053 121862 chr3 65415491 65415491 T C rs200229876 MAGI1 Nonsynonymous SNV Y624C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 121863 chr3 7188180 7188180 T C rs35106713 GRM7 Synonymous SNV S187S 0.02 0.01 0.014 4 23 4 0.01 4 0 0 0 0 Benign 0.011 121864 chr16 2278380 2278380 C T rs368408185 E4F1 Synonymous SNV D55D 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 15.16 121865 chr19 56089793 56089793 T C ZNF579 Nonsynonymous SNV T405A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 121866 chr16 2546588 2546588 G C rs267607103 TBC1D24 Nonsynonymous SNV D147H 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 24.2 121867 chr16 2811842 2811842 C T SRRM2 Nonsynonymous SNV P438L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 15.48 121868 chr3 97806378 97806378 C T rs758466221 OR5AC2 Nonsynonymous SNV A121V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 121869 chr16 2908049 2908049 G A PRSS22 Synonymous SNV T19T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.385 121870 chr3 9476122 9476122 T C SETD5 Synonymous SNV P94P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 121871 chr3 49699609 49699609 G A rs200593275 BSN Nonsynonymous SNV R3444Q 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 20.4 121872 chr3 49924947 49924947 G A rs5030975 MST1R Synonymous SNV P1226P 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 2.634 121873 chr19 5657304 5657304 T C rs763768197 SAFB Nonsynonymous SNV V446A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 121874 chr2 241870354 241870354 C T rs754066613 CROCC2 Synonymous SNV L252L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.91 121875 chr19 56718458 56718458 C T ZSCAN5C Nonsynonymous SNV L139F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 121876 chr3 50403503 50403503 T C rs191208192 CACNA2D2 Nonsynonymous SNV Q934R 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 25.6 121877 chr5 10236714 10236714 G A rs114646426 ATPSCKMT Nonsynonymous SNV A107V 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 33 121878 chr3 51969378 51969378 C A rs915998759 RRP9 Nonsynonymous SNV Q317H 0 0.005 0 0 0 2 0 0 0 0 0 0 29.1 121879 chr5 10258522 10258522 A G rs200819422 CCT5 Nonsynonymous SNV I195V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 21.3 121880 chr16 3714411 3714411 - CGG rs201472428 TRAP1 S424_G425insA 0.015 0.013 0.017 3 18 5 0.008 5 0 0 1 0 121881 chr5 110461493 110461493 G A WDR36 Synonymous SNV K902K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.23 121882 chr4 100003253 100003253 C T rs199839912 ADH5 Synonymous SNV A43A 0.006 0 0 0 7 0 0 0 0 0 0 0 17.78 121883 chr16 4748428 4748428 C T rs763307507 ANKS3 Nonsynonymous SNV R402Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 121884 chr19 57839514 57839514 A G rs142027934 ZNF543 Synonymous SNV E228E 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 8.816 121885 chr2 232389945 232389945 G A rs777735963 NMUR1 Stop gain R364X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 121886 chr16 5097908 5097908 C G rs372664910 C16orf89 Nonsynonymous SNV R309T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 121887 chr19 58213654 58213654 T G ZNF154 Nonsynonymous SNV E221D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 121888 chr5 118837781 118837781 A G HSD17B4 Nonsynonymous SNV R401G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 121889 chr4 10445442 10445442 T C ZNF518B Synonymous SNV P837P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.169 121890 chr4 111539347 111539347 G A rs776910041 PITX2 Synonymous SNV Y303Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.901 121891 chr16 15808794 15808794 C T rs757099566 MYH11 Nonsynonymous SNV E1920K 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Uncertain significance 35 121892 chr3 57232504 57232504 T C rs9878928 HESX1 Nonsynonymous SNV N125S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign/Likely benign 8.029 121893 chr19 643495 643495 G A rs143239645 FGF22 Nonsynonymous SNV R135H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.89 121894 chr16 18841688 18841688 T C SMG1 Synonymous SNV L2932L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 121895 chr19 6759632 6759632 G A rs148876828 SH2D3A Nonsynonymous SNV R157W 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 121896 chr2 30480445 30480445 A G rs1060673 LBH Synonymous SNV Q92Q 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 6.617 121897 chr4 114163308 114163308 T C rs1057523315 ANK2 Synonymous SNV N278N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.098 121898 chr2 24107699 24107699 T G rs188370562 ATAD2B Synonymous SNV S240S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 9.111 121899 chr19 7143074 7143074 G A rs142654992 INSR Synonymous SNV G753G 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.49 121900 chr5 137523040 137523040 C T rs759299825 KIF20A Nonsynonymous SNV R871W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 121901 chr15 81584963 81584963 C T rs764598718 IL16 Nonsynonymous SNV S496L 0.003 0 0 0 4 0 0 0 0 0 0 0 22 121902 chr15 82338001 82338001 - GCCGCT rs972302919 MEX3B G15_G16insSG 0.004 0 0 1 5 0 0.003 0 0 0 0 0 121903 chr2 40656245 40656245 G A rs140135775 SLC8A1 Synonymous SNV S392S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.197 121904 chr4 123239423 123239423 C T rs62321684 KIAA1109 Nonsynonymous SNV R3598W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 121905 chr4 141321580 141321580 G A rs767171584 CLGN Nonsynonymous SNV H209Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 121906 chr2 242757574 242757574 C T rs114863971 NEU4 Nonsynonymous SNV R232C 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 27.3 121907 chr4 143043312 143043312 T C INPP4B Nonsynonymous SNV N702D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 121908 chr5 139940230 139940230 G A rs114266519 APBB3 Synonymous SNV P349P 0.003 0 0.01 0 4 0 0 3 0 0 0 0 5.379 121909 chr15 85327412 85327412 C T ZNF592 Synonymous SNV A502A 0.003 0 0 0 4 0 0 0 0 0 0 0 11.91 121910 chr4 126370186 126370186 A T rs138655269 FAT4 Nonsynonymous SNV D2674V 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Uncertain significance 23.2 121911 chr3 9969996 9969996 C T rs139588638 IL17RC Synonymous SNV R255R 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 Likely benign 10.09 121912 chr2 48027111 48027111 T C rs1057520324 MSH6 Synonymous SNV T533T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.462 121913 chr4 151000512 151000512 G C rs148482660 DCLK2 Synonymous SNV S111S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.52 121914 chr4 128807475 128807475 C T rs35049837 PLK4 Nonsynonymous SNV P285L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 28.8 121915 chr4 152638170 152638170 T C rs367936727 GATB Nonsynonymous SNV I166M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 121916 chr4 153273871 153273871 C T rs34496200 FBXW7 Synonymous SNV P4P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.762 121917 chr19 8808319 8808319 G A ACTL9 Stop gain Q245X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 121918 chr2 53992716 53992716 G C rs144516848 GPR75-ASB3 Synonymous SNV V36V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.145 121919 chr5 140751850 140751850 G T rs749946527 PCDHGB3 Nonsynonymous SNV R630L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 121920 chr16 46943598 46943598 G A GPT2 Synonymous SNV T93T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 121921 chr4 105412465 105412476 GCCGCCGCCGCC - CXXC4 G162_G165del 0 0.003 0 0 0 1 0 0 0 0 0 0 121922 chr16 48261829 48261829 G C rs145987153 ABCC11 Nonsynonymous SNV L95V 0.005 0.013 0 0 6 5 0 0 0 0 0 0 0.005 121923 chr5 140803055 140803055 A G rs141810253 PCDHGA11 Nonsynonymous SNV Y754C 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 28 121924 chr5 140811581 140811581 A G rs778393699 PCDHGA12 Nonsynonymous SNV N419D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.3 121925 chr4 160260396 160260396 G A rs61748171 RAPGEF2 Synonymous SNV P647P 0.015 0.018 0.034 9 18 7 0.023 10 0 0 0 0 9.213 121926 chr16 55880720 55880720 G A rs142917769 CES5A Nonsynonymous SNV R436W 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 28.1 121927 chr4 164393383 164393383 C T rs538337426 TKTL2 Nonsynonymous SNV G502S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 121928 chr2 69046316 69046316 C G rs147150060 ARHGAP25 Synonymous SNV P348P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.479 121929 chr5 142662280 142662280 G A rs258751 NR3C1 Synonymous SNV D678D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 8.759 121930 chr2 70015241 70015241 C T rs778109700 ANXA4 Nonsynonymous SNV A22V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 121931 chr5 145719503 145719503 C A rs148985828 POU4F3 Nonsynonymous SNV S171R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 15.45 121932 chr4 115856476 115856476 C T rs375881591 NDST4 Synonymous SNV Q474Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.81 121933 chr2 3660962 3660962 G A rs907114358 COLEC11 Nonsynonymous SNV R35Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 121934 chr4 119216099 119216099 G C rs142551296 PRSS12 Nonsynonymous SNV F678L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Uncertain significance 26.1 121935 chr2 38178548 38178550 TTA - rs776496559 RMDN2 L65del 0.003 0 0 0 4 0 0 0 0 0 0 0 121936 chr2 73676547 73676547 T C rs201180147 ALMS1 Nonsynonymous SNV Y964H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 3.956 121937 chr2 74906987 74906987 G A rs140418530 SEMA4F Nonsynonymous SNV R500Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.351 121938 chr2 43452798 43452798 C T rs991687116 ZFP36L2 Nonsynonymous SNV A49T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.887 121939 chr4 173961219 173961219 T C GALNTL6 Synonymous SNV L592L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 121940 chr16 67063644 67063644 C G CBFB Synonymous SNV G31G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 121941 chr4 17616316 17616316 A C MED28 Synonymous SNV P13P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.603 121942 chr15 101109952 101109952 G A rs201857287 LINS1 Nonsynonymous SNV R589W 0.003 0 0 0 4 0 0 0 0 0 0 0 6.828 121943 chr4 185339711 185339711 G A rs144286568 IRF2 Synonymous SNV P113P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.191 121944 chr2 46587829 46587829 C T rs1027571167 EPAS1 Synonymous SNV F169F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.54 121945 chr16 67575623 67575623 C T rs762400610 RIPOR1 Nonsynonymous SNV R344C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 121946 chr15 102194798 102194798 T C TARS3 Nonsynonymous SNV E799G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 121947 chr4 140810904 140810904 C T rs774112443 MAML3 Synonymous SNV Q562Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.541 121948 chr2 54871523 54871523 G A rs757637838 SPTBN1 Nonsynonymous SNV G1344S 0.004 0 0 0 5 0 0 0 0 0 0 0 20.4 121949 chr2 55130314 55130314 T C EML6 Synonymous SNV S1086S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.162 121950 chr4 149356300 149356300 A G rs5529 NR3C2 Synonymous SNV S571S 0.006 0.005 0.02 1 7 2 0.003 6 0 0 1 0 Benign 1.138 121951 chr2 55195265 55195265 G A EML6 Nonsynonymous SNV V1867I 0.005 0 0 0 6 0 0 0 0 0 0 0 12.3 121952 chr2 55195330 55195330 A G rs11684017 EML6 Synonymous SNV A1888A 0.012 0.008 0.003 3 14 3 0.008 1 1 0 0 0 10.91 121953 chr1 110765766 110765766 G A rs55807673 KCNC4 Nonsynonymous SNV V287I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 14.03 121954 chr5 150947615 150947615 C T rs142119037 FAT2 Nonsynonymous SNV G293D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.992 121955 chr2 88407997 88407997 A G rs140333687 SMYD1 Nonsynonymous SNV K405R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.94 121956 chr2 61009897 61009897 A G rs143716717 PAPOLG Synonymous SNV Q368Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.777 121957 chr2 95815878 95815878 C T rs151077080 ZNF514 Nonsynonymous SNV G191S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 5.374 121958 chr16 70697685 70697685 G A rs188606518 MTSS2 Synonymous SNV A713A 0.002 0.003 0 0 2 1 0 0 1 0 0 0 5.699 121959 chr5 156590155 156590155 G A rs140209435 FAM71B Nonsynonymous SNV A374V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.092 121960 chr4 24550580 24550580 G A rs33972724 DHX15 Synonymous SNV D382D 0.006 0.01 0.007 1 7 4 0.003 2 0 0 0 0 10.05 121961 chr1 1132976 1132976 C T rs566673651 TTLL10 Nonsynonymous SNV R591C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 121962 chr4 15529142 15529142 A T CC2D2A Nonsynonymous SNV I408F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 121963 chr16 71606268 71606268 C T rs186547434 TAT-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.357 121964 chr16 71894383 71894383 A G rs28421940 ZNF821 Synonymous SNV A217A 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 0.199 121965 chr5 159398936 159398936 T C ADRA1B Nonsynonymous SNV F334L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 121966 chr16 72822351 72822351 G A rs62639993 ZFHX3 Nonsynonymous SNV P2361L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.7 121967 chr4 3076616 3076618 CAG - HTT Q38del 0.002 0 0 0 2 0 0 0 0 0 0 0 121968 chr4 164393029 164393029 C T rs145457799 TKTL2 Nonsynonymous SNV V620I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.7 121969 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQ 0.003 0.005 0 0 4 2 0 0 0 0 0 0 121970 chr1 11907649 11907649 G A rs374257969 NPPA Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.84 121971 chr1 119725186 119725186 G A rs11484962 WARS2-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 5.164 121972 chr4 40104776 40104776 C T rs769209263 N4BP2 Synonymous SNV Y437Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.963 121973 chr1 12316396 12316396 A G rs973655867 VPS13D Nonsynonymous SNV M226V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 121974 chr4 39217608 39217608 T A WDR19 Nonsynonymous SNV V210D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 121975 chr1 1291068 1291068 C T rs563974252 MXRA8 Synonymous SNV A37A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 121976 chr3 113172717 113172717 C T SPICE1 Nonsynonymous SNV E580K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 121977 chr16 84104317 84104317 G A rs553862782 MBTPS1 Nonsynonymous SNV S553L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.7 121978 chr3 11389351 11389351 G T rs761834298 ATG7 Nonsynonymous SNV G337C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 121979 chr5 178050348 178050348 G A rs144043842 CLK4 Nonsynonymous SNV R24C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 15.43 121980 chr2 86276076 86276076 C G rs80106112 POLR1A Nonsynonymous SNV Q855H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 121981 chr1 150526523 150526523 G A ADAMTSL4 Stop gain W352X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 121982 chr4 47663789 47663789 A G CORIN Synonymous SNV S454S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.384 121983 chr4 52864066 52864066 A G rs756689831 LRRC66 Nonsynonymous SNV L235P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.945 121984 chr4 55972029 55972029 C T rs55716939 KDR Nonsynonymous SNV G539R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.1 121985 chr4 55946171 55946171 G A rs35961234 KDR Synonymous SNV T1336T 0.008 0.003 0.007 4 9 1 0.01 2 0 0 0 0 6.309 121986 chr2 98804551 98804551 C T rs971803050 VWA3B Synonymous SNV Y132Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.74 121987 chr1 153920692 153920692 G A rs149096848 CRTC2 Nonsynonymous SNV R659C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 121988 chr4 6114515 6114515 C T rs771507170 JAKMIP1 Nonsynonymous SNV M21I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 121989 chr4 25780803 25780803 T C rs201874631 SEL1L3 Nonsynonymous SNV H792R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 121990 chr3 124458938 124458938 T A rs2291078 UMPS Synonymous SNV V350V 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Likely benign 12.39 121991 chr3 124462824 124462824 A G rs3772809 UMPS Nonsynonymous SNV I446V 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Likely benign 11.36 121992 chr1 155015901 155015901 T C rs908821983 DCST1 Nonsynonymous SNV V338A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.129 121993 chr4 7012437 7012437 G A TBC1D14 Nonsynonymous SNV A246T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 34 121994 chr3 113376110 113376110 - TGCTGC rs879138126 USF3 Q1478_A1479insQQ 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 121995 chr3 12848844 12848844 G T CAND2 Synonymous SNV V84V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.71 121996 chr3 114057879 114057879 G A rs142627077 ZBTB20 Synonymous SNV H733H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.153 121997 chr3 12858245 12858245 G A rs377512664 CAND2 Nonsynonymous SNV R512Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.63 121998 chr16 30721046 30721046 G C SRCAP Synonymous SNV L282L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.491 121999 chr4 74864232 74864232 C G CXCL5 Nonsynonymous SNV V23L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 122000 chr3 129513196 129513196 G A rs891825529 TMCC1 Nonsynonymous SNV R4C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.9 122001 chr3 119445021 119445021 G A rs116290839 MAATS1 Nonsynonymous SNV R103Q 0.005 0.01 0.01 1 6 4 0.003 3 0 0 0 0 28.4 122002 chr16 47727384 47727384 A G rs147624679 PHKB Nonsynonymous SNV N954S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.36 122003 chr4 40752824 40752824 A G rs760484932 NSUN7 Synonymous SNV E38E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.332 122004 chr16 30980937 30980937 C T rs200721841 SETD1A Synonymous SNV D981D 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 17.55 122005 chr16 50813787 50813787 C T CYLD Synonymous SNV N447N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.199 122006 chr4 77288836 77288836 C T rs190466223 CCDC158 Nonsynonymous SNV V481I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 122007 chr3 130405071 130405071 T C rs148153534 PIK3R4 Synonymous SNV Q1153Q 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 2.468 122008 chr3 130672769 130672769 G A rs6810181 ATP2C1 Synonymous SNV S207S 0.005 0.016 0 5 6 6 0.013 0 0 0 0 0 Benign 11.69 122009 chr16 49670206 49670206 G A rs372390262 ZNF423 Nonsynonymous SNV R836W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 122010 chr3 132202375 132202375 C G rs139547941 DNAJC13 Nonsynonymous SNV L1046V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 17.21 122011 chr1 159805099 159805099 G T rs112593545 SNHG28 0 0 0.003 0 0 0 0 1 0 0 0 0 3.407 122012 chr3 132360973 132360973 C - rs780955659 ACAD11 R127Qfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 122013 chr3 132360974 132360974 G T rs773176265 ACAD11 Synonymous SNV R127R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 122014 chr1 160057522 160057522 C T rs3001040 KCNJ9 Nonsynonymous SNV A366V 0.007 0.003 0.024 0 8 1 0 7 4 0 3 0 19.04 122015 chr3 122630827 122630827 A G rs35306342 SEMA5B Nonsynonymous SNV S902P 0.006 0.005 0.01 3 7 2 0.008 3 1 0 0 0 18.4 122016 chr1 160175210 160175210 - GCG rs17551437 LOC729867 0 0 0.075 0 0 0 0 22 0 0 9 0 122017 chr17 3802975 3802975 G A rs146491210 P2RX1 Synonymous SNV F276F 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.931 122018 chr17 3967986 3967986 T G ZZEF1 Nonsynonymous SNV S1463R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.8 122019 chr16 55734199 55734199 C T rs148686754 SLC6A2 Nonsynonymous SNV T475M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.67 122020 chr17 4348389 4348389 C T rs146383415 SPNS3 Nonsynonymous SNV R110C 0.003 0.008 0.017 2 3 3 0.005 5 0 0 0 0 29.3 122021 chr4 860815 860815 G A GAK Nonsynonymous SNV P855L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.81 122022 chr4 8588903 8588903 G A rs368485565 GPR78 Nonsynonymous SNV R302H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.4 122023 chr5 78322362 78322362 A G rs752787112 DMGDH Nonsynonymous SNV V692A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 122024 chr4 89039396 89039396 G A rs140207606 ABCG2 Stop gain R236X 0.006 0.005 0 0 7 2 0 0 0 0 0 0 association 41 122025 chr17 5347759 5347759 C T DHX33 Nonsynonymous SNV M457I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 20.8 122026 chr17 5354127 5354127 T - DHX33 T336Pfs*15 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 122027 chr17 6515341 6515341 G A rs199557242 KIAA0753 Synonymous SNV D182D 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Benign 1.667 122028 chr1 171077291 171077291 C T rs539058927 FMO3 Nonsynonymous SNV R123C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 122029 chr5 10258362 10258362 C G rs925661175 CCT5 Nonsynonymous SNV L169V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 122030 chr3 130381153 130381153 G A rs201329510 COL6A6 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 122031 chr17 7416225 7416225 C T POLR2A Nonsynonymous SNV P1580L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 122032 chr3 154147377 154147377 T C GPR149 Nonsynonymous SNV T10A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.017 122033 chr4 780475 780475 C T rs754684184 CPLX1 Synonymous SNV K73K 0 0.005 0 0 0 2 0 0 0 0 0 0 14.99 122034 chr3 138183304 138183304 C T rs747365255 ESYT3 Nonsynonymous SNV R345W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 122035 chr17 9680514 9680514 C T rs189185643 DHRS7C Synonymous SNV T189T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 11.29 122036 chr1 179564833 179564833 A G rs150798452 TDRD5 Synonymous SNV P237P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.416 122037 chr5 118506147 118506147 A G rs74737344 DMXL1 Synonymous SNV K1887K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.125 122038 chr3 141161917 141161917 T C rs369305072 ZBTB38 Synonymous SNV A229A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 122039 chr17 10354675 10354675 G A rs145453135 MYH4 Nonsynonymous SNV S1278L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.9 122040 chr4 79792116 79792142 CAGCAGCAGCAGCAACAGCAACAGCAG - rs776849681 BMP2K Q478_Q486del 0.003 0.008 0 0 3 3 0 0 0 0 0 0 122041 chr5 96478219 96478219 G A rs147763437 LIX1 Nonsynonymous SNV P21L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.31 122042 chr5 118502373 118502373 G A rs748630424 DMXL1 Nonsynonymous SNV R1678H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 122043 chr17 11584056 11584056 G C rs141958775 DNAH9 Nonsynonymous SNV W1198S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 29.5 122044 chr1 181765954 181765954 G A rs200113695 CACNA1E Nonsynonymous SNV R2058K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 122045 chr5 121297751 121297751 C T SRFBP1 Synonymous SNV N8N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 122046 chr4 83821886 83821886 G A THAP9-AS1 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.04 122047 chr6 106969266 106969266 T C rs146033137 CRYBG1 Nonsynonymous SNV F987L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 122048 chr5 130517930 130517930 A C rs200336982 LYRM7 Nonsynonymous SNV I34L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 13.34 122049 chr5 131007226 131007226 C A rs139117851 FNIP1 Nonsynonymous SNV A943S 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 6.123 122050 chr5 131013409 131013409 A G rs146796556 FNIP1 Synonymous SNV L474L 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 1.118 122051 chr5 131396406 131396406 C T rs35415145 IL3 Nonsynonymous SNV R3C 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 13.49 122052 chr3 151163173 151163173 G A rs34674218 IGSF10 Synonymous SNV A1532A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.098 122053 chr5 132085115 132085115 G C rs140882152 CCNI2 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 23.2 122054 chr4 88239501 88239505 TCTCT - rs540096704 HSD17B13 E98Dfs*14 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 122055 chr4 88356173 88356173 G C rs141228147 NUDT9 Nonsynonymous SNV V50L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 5.484 122056 chr17 18236570 18236570 G A SHMT1 Synonymous SNV L184L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.81 122057 chr3 184070262 184070262 C T rs144164281 CLCN2 Nonsynonymous SNV R703H 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 23.3 122058 chr16 84215995 84215995 C T rs199676363 TAF1C Synonymous SNV G178G 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 9.123 122059 chr4 90170301 90170301 C G rs780926554 GPRIN3 Nonsynonymous SNV E321Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 26.2 122060 chr3 158519971 158519971 G T rs747019829 MFSD1 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 122061 chr3 160156298 160156298 A G rs62617780 TRIM59 Nonsynonymous SNV M225T 0.013 0.008 0.007 1 15 3 0.003 2 0 0 0 0 20.6 122062 chr5 138855985 138855985 C T rs758939417 STING1 Nonsynonymous SNV G272S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23 122063 chr1 19952064 19952064 C T rs2745233 MICOS10 Nonsynonymous SNV S134L 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 12.02 122064 chr5 139193257 139193257 T C rs141898079 PSD2 Synonymous SNV N245N 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 1.426 122065 chr5 140012071 140012071 C G CD14 Nonsynonymous SNV Q166H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.05 122066 chr3 169710614 169710614 G C rs34352823 SEC62 Nonsynonymous SNV E321D 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 7.416 122067 chr3 170110147 170110147 T A rs61761943 SKIL Nonsynonymous SNV M620K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.51 122068 chr1 201182042 201182042 G A rs201751289 IGFN1 Nonsynonymous SNV G2674E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.24 122069 chr5 109049462 109049462 A G rs150936733 MAN2A1 Nonsynonymous SNV N126S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.395 122070 chr5 110097155 110097155 G T rs746484775 SLC25A46 Nonsynonymous SNV L229F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.3 122071 chr5 140174969 140174969 C G rs144974749 PCDHA2 Nonsynonymous SNV I140M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.448 122072 chr17 26818546 26818546 C T rs147270418 SLC13A2 Synonymous SNV S271S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.95 122073 chr5 112824048 112824048 - GCCGCTGCC rs531679771 MCC G21_S22insGSG 0.002 0.005 0 0 2 2 0 0 0 0 0 0 122074 chr5 115783197 115783197 G A rs757966330 SEMA6A Synonymous SNV P735P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.031 122075 chr5 140580181 140580181 C T PCDHB11 Synonymous SNV C278C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.902 122076 chr17 30648267 30648267 C T rs200744203 RHBDL3 Nonsynonymous SNV S378L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.38 122077 chr5 140789798 140789798 G A rs368718827 PCDHGB6 Nonsynonymous SNV D677N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 122078 chr1 206647680 206647680 G A rs549538401 IKBKE Nonsynonymous SNV G32R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 122079 chr5 10761179 10761179 A G DAP Star tloss M1? 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 122080 chr5 145493821 145493821 G A rs746600010 LARS1 Stop gain R1081X 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 41 122081 chr1 2113776 2113776 C T rs200477555 PRKCZ-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.176 122082 chr5 148697448 148697448 G A rs141357304 AFAP1L1 Nonsynonymous SNV R442Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 33 122083 chr3 37190428 37190428 C T rs749323030 LRRFIP2 Nonsynonymous SNV R16Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 122084 chr17 2598523 2598523 T C CLUH Nonsynonymous SNV T866A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 122085 chr5 121515248 121515248 A G rs184376878 LOC100505841 Nonsynonymous SNV T13A 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 1.982 122086 chr5 149459890 149459890 C T rs535129002 CSF1R Nonsynonymous SNV R106Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.61 122087 chr3 3887313 3887313 C T rs146290783 LRRN1 Nonsynonymous SNV R330C 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 34 122088 chr5 138725509 138725509 - CAG rs748501256 MZB1 L12_G13insL 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 122089 chr5 126860583 126860583 T C PRRC1 Nonsynonymous SNV M155T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 18.55 122090 chr17 3336615 3336615 C T rs747194955 OR1E2 Nonsynonymous SNV R174K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 122091 chr17 3336947 3336947 G C rs754878928 OR1E2 Synonymous SNV L63L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.473 122092 chr5 150121689 150121689 G C rs754407561 DCTN4 Nonsynonymous SNV P139R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 122093 chr3 196612099 196612099 C T SENP5 Nonsynonymous SNV A16V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 122094 chr5 139228014 139228014 C T NRG2 Nonsynonymous SNV A615T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.83 122095 chr3 196675345 196675345 G A rs140434104 PIGZ Synonymous SNV D141D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 122096 chr3 196737569 196737569 G A rs762942426 MELTF Nonsynonymous SNV P444S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 122097 chr1 223568348 223568348 G C rs150515474 CCDC185 Nonsynonymous SNV D511H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.2 122098 chr17 4496307 4496307 C A rs112578571 SMTNL2 Synonymous SNV R191R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19.26 122099 chr3 32022525 32022525 G A rs186672383 OSBPL10 Synonymous SNV L49L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 6.741 122100 chr3 32031895 32031895 G A rs79295539 ZNF860 Nonsynonymous SNV V442I 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 4.603 122101 chr1 2283313 2283313 C G rs2843130 LOC100129534 0 0 0.031 0 0 0 0 9 0 0 1 0 1.03 122102 chr3 4459755 4459755 C G rs137917233 SUMF1 Nonsynonymous SNV G197R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 122103 chr3 33437745 33437745 A G rs61757567 UBP1 Synonymous SNV Y397Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.186 122104 chr5 140712375 140712375 C A rs151257732 PCDHGA1 Synonymous SNV V708V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.91 122105 chr5 140718566 140718566 T C rs191299749 PCDHGA2 Nonsynonymous SNV C10R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.002 122106 chr5 140719283 140719283 A T rs150706052 PCDHGA2 Nonsynonymous SNV I249L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.47 122107 chr17 4795494 4795494 C T rs201175554 MINK1 Synonymous SNV A664A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.67 122108 chr5 158753761 158753761 C G rs763190982 IL12B Nonsynonymous SNV W10C 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 122109 chr1 228461900 228461900 G A rs201775103 OBSCN Nonsynonymous SNV R1813Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.9 122110 chr5 140731375 140731375 C T rs186558249 PCDHGB1 Synonymous SNV F516F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.17 122111 chr3 37100367 37100367 C T rs139151890 LRRFIP2 Nonsynonymous SNV R274Q 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 23.8 122112 chr5 140736554 140736554 G A rs146063218 PCDHGA4 Nonsynonymous SNV R627K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.37 122113 chr5 157170966 157170966 G A rs202030318 LSM11 Nonsynonymous SNV G70S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 13.11 122114 chr5 140745370 140745370 G A rs138451800 PCDHGA5 Synonymous SNV L491L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.032 122115 chr5 140745790 140745790 C T rs141416995 PCDHGA5 Synonymous SNV A631A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.251 122116 chr5 140755573 140755573 C T rs11575954 PCDHGA6 Synonymous SNV S641S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.03 122117 chr5 140755576 140755576 A C rs111388524 PCDHGA6 Synonymous SNV L642L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.003 122118 chr5 140772679 140772679 C T rs148589854 PCDHGA8 Nonsynonymous SNV P100L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.639 122119 chr5 140773719 140773719 G A rs141035845 PCDHGA8 Nonsynonymous SNV D447N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.1 122120 chr5 140774131 140774131 G C rs200338108 PCDHGA8 Nonsynonymous SNV R584P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.126 122121 chr5 140774132 140774132 T C rs199836246 PCDHGA8 Synonymous SNV R584R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.005 122122 chr5 140778760 140778760 G A rs138699584 PCDHGB5 Nonsynonymous SNV A356T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.062 122123 chr5 140782731 140782731 G A rs11575960 PCDHGA9 Nonsynonymous SNV R71K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.233 122124 chr5 140789026 140789026 T C rs139792503 PCDHGB6 Synonymous SNV N419N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 122125 chr5 140789415 140789415 G A rs149920059 PCDHGB6 Nonsynonymous SNV R549H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.7 122126 chr5 140795209 140795209 A - rs752029921 PCDHGA10 K826Rfs*11 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 122127 chr5 140797827 140797827 G A rs144490159 PCDHGB7 Nonsynonymous SNV R134Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.004 122128 chr5 140797963 140797963 A G rs139206858 PCDHGB7 Synonymous SNV S179S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.339 122129 chr3 46754499 46754499 T C rs141108933 PRSS50 Synonymous SNV K271K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.005 122130 chr5 140798377 140798377 A G rs149866479 PCDHGB7 Nonsynonymous SNV I317M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 122131 chr5 140799205 140799205 C T rs191182165 PCDHGB7 Synonymous SNV A593A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.86 122132 chr5 167617453 167617453 C T rs201157994 TENM2 Nonsynonymous SNV T662M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 122133 chr5 140799449 140799449 T A rs145814583 PCDHGB7 Nonsynonymous SNV F675I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.052 122134 chr3 47037984 47037984 G A rs140354422 NBEAL2 Nonsynonymous SNV R758Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 20.7 122135 chr5 140953563 140953563 - GGAGGAGGAGGA DIAPH1 P611_L612insPPPP 0 0.003 0 0 0 1 0 0 0 0 0 0 122136 chr1 232539271 232539271 C A SIPA1L2 Synonymous SNV G1621G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 122137 chr1 232539881 232539881 C A rs748797056 SIPA1L2 Synonymous SNV T1602T 0 0 0.003 0 0 0 0 1 0 0 0 0 21 122138 chr5 141314065 141314065 G A DELE1 Nonsynonymous SNV A355T 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 27.4 122139 chr3 48309829 48309829 G A rs574615806 ZNF589 Synonymous SNV T216T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.65 122140 chr5 175110281 175110281 C T rs17065306 HRH2 Synonymous SNV T15T 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 7.779 122141 chr17 41063398 41063398 C T rs1019836830 G6PC Synonymous SNV Y343Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.37 122142 chr5 173534448 173534448 G A rs117197975 NSG2 Synonymous SNV P152P 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 9.976 122143 chr5 147480056 147480056 A C rs180696183 SPINK5 Nonsynonymous SNV K378Q 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.96 122144 chr5 140710577 140710577 T C rs752641059 PCDHGA1 Nonsynonymous SNV L109P 0.007 0.003 0 0 8 1 0 0 0 0 0 0 25.7 122145 chr17 7592153 7592153 G A rs145760222 WRAP53 Nonsynonymous SNV V63M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 0.842 122146 chr6 25435768 25435768 G A rs578076496 CARMIL1 Nonsynonymous SNV V103M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 122147 chr5 176519709 176519709 C T rs570399481 FGFR4 Synonymous SNV D327D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 122148 chr17 42477575 42477575 G A rs146542129 GPATCH8 Nonsynonymous SNV R546C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.18 122149 chr5 177657012 177657012 G A rs367756751 PHYKPL Synonymous SNV I48I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.3 122150 chr5 141028814 141028814 C T rs200855332 FCHSD1 Nonsynonymous SNV R146Q 0.007 0.003 0 0 8 1 0 0 0 0 0 0 26 122151 chr5 178413201 178413201 G A rs144657366 GRM6 Nonsynonymous SNV S685L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 32 122152 chr5 141304984 141304984 C G rs754330392 DELE1 Synonymous SNV P52P 0.008 0.003 0 0 9 1 0 0 0 0 0 0 11.1 122153 chr5 176939375 176939375 G A rs371427065 DDX41 Synonymous SNV T397T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.341 122154 chr5 141305063 141305063 C G rs755183106 DELE1 Nonsynonymous SNV P79A 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.006 122155 chr1 238051686 238051686 C A rs772478253 ZP4 Nonsynonymous SNV E175D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.575 122156 chr5 176951707 176951707 T C rs192898913 FAM193B Nonsynonymous SNV N592S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.445 122157 chr17 8296255 8296255 C T rs745331248 RNF222 Synonymous SNV S175S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.198 122158 chr3 52526200 52526200 G A rs373042665 NISCH Nonsynonymous SNV R1406Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.48 122159 chr1 243456403 243456403 A C rs144254594 SDCCAG8 Nonsynonymous SNV H186P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.449 122160 chr17 47794907 47794907 G A rs781624561 FAM117A Nonsynonymous SNV A293V 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 3.697 122161 chr3 47459892 47459892 G A rs149033051 SCAP Synonymous SNV R495R 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 10.39 122162 chr5 2752410 2752410 G A C5orf38 Nonsynonymous SNV R11Q 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 15.01 122163 chr5 31323165 31323167 ACA - rs781143910 CDH6 N709del 0.001 0 0 0 1 0 0 0 0 0 0 0 122164 chr1 2461172 2461172 G T rs111816418 HES5 Synonymous SNV A79A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 4.543 122165 chr5 180486404 180486404 C T rs186444058 BTNL9 Nonsynonymous SNV H384Y 0.013 0.008 0.014 1 15 3 0.003 4 0 0 0 0 26.4 122166 chr1 246810982 246810982 T G rs200507148 CNST Nonsynonymous SNV D493E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 122167 chr1 247587688 247587688 A G rs180177501 NLRP3 Nonsynonymous SNV I315V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 122168 chr3 48614200 48614200 C T rs756690615 COL7A1 Nonsynonymous SNV R1870H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.04 122169 chr3 48616679 48616679 C T rs765367177 COL7A1 Nonsynonymous SNV R1780Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.4 122170 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGG MYH3 Frameshift insertion G203Pfs*64 0.001 0 0 0 1 0 0 0 0 0 0 0 122171 chr3 53914040 53914040 C T rs149728050 ACTR8 Nonsynonymous SNV V74I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 122172 chr3 49349939 49349939 G T rs563823411 USP4 Nonsynonymous SNV A268E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.671 122173 chr5 31294254 31294254 C T rs147617483 CDH6 Synonymous SNV P138P 0.003 0 0 3 4 0 0.008 0 0 0 0 0 15.97 122174 chr3 54952510 54952511 CT - rs573640720 LRTM1 E262Afs*3 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 122175 chr3 54958975 54958975 C G rs141303357 LRTM1 Nonsynonymous SNV G16A 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 0.001 122176 chr5 31323050 31323050 C G CDH6 Nonsynonymous SNV Q670E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 122177 chr3 49394865 49394865 G A rs777715410 GPX1 Nonsynonymous SNV P144S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.802 122178 chr5 149498370 149498370 C T rs55647240 PDGFRB Synonymous SNV R884R 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 18.07 122179 chr5 35876251 35876251 A C rs41270321 IL7R Nonsynonymous SNV N348T 0.007 0 0.007 2 8 0 0.005 2 0 0 0 0 Benign 0.001 122180 chr17 54517704 54517704 C T rs753825231 ANKFN1 Synonymous SNV S312S 0 0.005 0 0 0 2 0 0 0 0 0 0 10.73 122181 chr3 57144258 57144258 T G rs184758350 IL17RD Nonsynonymous SNV K131T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 122182 chr3 49869488 49869488 C T rs143310707 TRAIP Nonsynonymous SNV E300K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 122183 chr5 163496 163496 T C rs115664303 PLEKHG4B Synonymous SNV H1103H 0.014 0.026 0.007 3 16 10 0.008 2 0 0 0 0 0.011 122184 chr3 62631480 62631480 A G CADPS Synonymous SNV A414A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.02 122185 chr3 64619235 64619235 T C rs769431194 ADAMTS9 Synonymous SNV T668T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.253 122186 chr1 248308910 248308910 T C rs374700206 OR2M5 Nonsynonymous SNV M154T 0 0.003 0.014 0 0 1 0 4 0 0 0 0 0.002 122187 chr1 248308911 248308911 G A rs542068997 OR2M5 Nonsynonymous SNV M154I 0 0.003 0.014 0 0 1 0 4 0 0 0 0 0.001 122188 chr3 52476253 52476253 G A SEMA3G Nonsynonymous SNV T136I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 122189 chr1 248308916 248308916 C G rs115506798 OR2M5 Nonsynonymous SNV A156G 0 0.003 0.014 0 0 1 0 4 0 0 0 0 0.001 122190 chr3 67579535 67579535 T C rs74675534 SUCLG2 Nonsynonymous SNV K101R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign/Likely benign 21.8 122191 chr5 150947390 150947390 C T rs61743253 FAT2 Nonsynonymous SNV R368K 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 7.447 122192 chr5 173425163 173425163 C A rs770436879 C5orf47 Synonymous SNV I111I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.19 122193 chr3 71015145 71015145 C G FOXP1 Synonymous SNV L495L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 12.33 122194 chr5 37302929 37302931 TGA - NUP155 S1069del 0.001 0 0 0 1 0 0 0 0 0 0 0 122195 chr5 37727138 37727138 C T WDR70 Nonsynonymous SNV A601V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 122196 chr5 176002383 176002383 G T rs199964393 CDHR2 Nonsynonymous SNV V242F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.8 122197 chr17 60766323 60766323 T C MRC2 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 24.2 122198 chr3 52860934 52860934 G A ITIH4 Nonsynonymous SNV S131L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 122199 chr17 61556415 61556415 G C rs143320537 ACE Nonsynonymous SNV K155N 0.003 0.016 0 1 3 6 0.003 0 0 0 0 0 Uncertain significance 23.7 122200 chr1 2541203 2541203 G T MMEL1 Stop gain C120X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 122201 chr1 26691518 26691518 G T rs996617939 ZNF683 Stop gain C173X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 122202 chr1 27023140 27023140 - GGC ARID1A G87_A88insG 0 0 0.003 0 0 0 0 1 0 0 0 0 122203 chr1 27153443 27153443 A G rs866285598 ZDHHC18 Nonsynonymous SNV S50G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 122204 chr5 60063657 60063657 G A ELOVL7 Nonsynonymous SNV A110V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 29.6 122205 chr3 58154336 58154336 C T rs761458879 FLNB Synonymous SNV Y2432Y 0.002 0 0 0 2 0 0 0 0 0 0 0 13.67 122206 chr4 100237260 100237260 C G rs149651454 ADH1B Nonsynonymous SNV R121P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 122207 chr6 44254078 44254078 C T rs150846122 TCTE1 Nonsynonymous SNV E157K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 122208 chr1 32566097 32566097 C T rs751272141 TMEM39B Synonymous SNV N191N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 122209 chr1 33234296 33234296 G A KIAA1522 Nonsynonymous SNV S110N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 122210 chr17 29119636 29119636 G T SUZ12P1 0 0 0 3 0 0 0.008 0 0 0 0 0 3.753 122211 chr17 29231094 29231094 T A rs371918239 TEFM Nonsynonymous SNV E162V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.9 122212 chr17 29326155 29326155 G T rs61749868 RNF135 Nonsynonymous SNV W415C 0.008 0.003 0.003 8 9 1 0.021 1 0 0 0 0 Likely benign 26.6 122213 chr17 33448904 33448904 T C rs147918284 FNDC8 Synonymous SNV D64D 0.005 0.005 0.007 7 6 2 0.018 2 0 0 0 0 0.001 122214 chr17 73758831 73758831 C T rs140053358 GALK1 Synonymous SNV A249A 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.03 122215 chr4 113553086 113553087 TT - ZGRF1 K34Sfs*5 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 122216 chr4 114281999 114281999 C T rs72556376 ANK2 Nonsynonymous SNV R659W 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Uncertain significance 35 122217 chr17 74005783 74005783 G A rs149505943 EVPL Nonsynonymous SNV T1190M 0.007 0.01 0.014 4 8 4 0.01 4 0 0 0 0 0.143 122218 chr5 79854778 79854778 G A rs995148826 ANKRD34B Nonsynonymous SNV T354I 0.003 0 0 0 3 0 0 0 0 0 0 0 16.63 122219 chr17 36889703 36889704 CT - rs773042025 CISD3 *128delinsRGLLLSSHRWPWLQASDRHPLLWERKQVLSPRDSGTHCWLMKEELFLIT* 0.001 0 0 2 1 0 0.005 0 0 0 0 0 122220 chr6 56965465 56965465 A G rs369902306 ZNF451 Nonsynonymous SNV N84S 0.006 0 0 3 7 0 0.008 0 0 0 0 0 6.613 122221 chr5 7831982 7831982 C T rs200343160 C5orf49 Nonsynonymous SNV G142E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.4 122222 chr1 43353775 43353775 G C rs4660681 LOC339539 0 0 0.01 0 0 0 0 3 0 0 0 0 1.764 122223 chr17 38855826 38855826 C T rs758202130 KRT24 Nonsynonymous SNV E411K 0 0 0 2 0 0 0.005 0 0 0 0 0 34 122224 chr5 92920820 92920820 - GCGGCGGCG NR2F1 G36_A37insGGG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 122225 chr5 94872804 94872804 C T rs73147944 TTC37 Synonymous SNV K195K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 13.45 122226 chr5 96098929 96098929 T A ERAP1 Nonsynonymous SNV D941V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.91 122227 chr4 13600956 13600956 - TGC rs143588519 BOD1L1 S2522_I2523insS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 122228 chr4 138442573 138442573 C T rs370362672 PCDH18 Synonymous SNV S1005S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.54 122229 chr5 98129105 98129105 G A rs143449818 RGMB Nonsynonymous SNV R321H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 122230 chr1 47427406 47427406 T G CYP4X1 Nonsynonymous SNV M51R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 122231 chr1 48459983 48459983 A G TRABD2B Nonsynonymous SNV L130S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 122232 chr17 78182048 78182048 C G rs144285237 CARD14 Nonsynonymous SNV D973E 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 Benign 15.02 122233 chr17 78225167 78225167 G A rs140131205 SLC26A11 Nonsynonymous SNV G566R 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 28.5 122234 chr17 78919564 78919564 C T rs199631709 RPTOR Synonymous SNV A883A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.2 122235 chr1 55069553 55069553 C T rs202064424 ACOT11 Synonymous SNV I365I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 122236 chr4 128804452 128804452 A G rs199771668 PLK4 Synonymous SNV V13V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 7.297 122237 chr1 55166015 55166015 C T rs139827199 MROH7 Nonsynonymous SNV R514C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 31 122238 chr6 97247399 97247399 G C rs761667953 GPR63 Nonsynonymous SNV P70R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.41 122239 chr6 100897541 100897541 A G rs138546433 SIM1 Nonsynonymous SNV I128T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 122240 chr17 79973111 79973111 C G rs748911313 ASPSCR1 Nonsynonymous SNV P505R 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 11.63 122241 chr17 80008395 80008395 G A rs112510774 RFNG Synonymous SNV N152N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.44 122242 chr17 80046330 80046330 G A rs146170446 FASN Synonymous SNV D843D 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Likely benign 10.71 122243 chr6 112513021 112513021 G C LAMA4 Nonsynonymous SNV L179V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.5 122244 chr4 155490911 155490911 G A rs200792588 FGB Nonsynonymous SNV G343S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 122245 chr4 138451933 138451933 G A rs750436768 PCDH18 Nonsynonymous SNV A437V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 26.9 122246 chr17 80395068 80395068 G A rs61978618 HEXD Nonsynonymous SNV R151Q 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 10.05 122247 chr4 148787930 148787930 A G rs145720035 ARHGAP10 Nonsynonymous SNV N222S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.18 122248 chr6 110062705 110062705 A T rs138048706 FIG4 Nonsynonymous SNV K278N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 122249 chr4 175749936 175749936 T A rs139727969 GLRA3 Synonymous SNV T9T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 13.76 122250 chr17 43319435 43319440 CCGCCG - rs746708461 FMNL1 P611_P612del 0 0 0.007 2 0 0 0.005 2 0 0 0 0 122251 chr17 43319438 43319440 CCG - FMNL1 P612del 0 0 0 1 0 0 0.003 0 0 0 0 0 122252 chr4 177082099 177082099 C T rs147272076 WDR17 Nonsynonymous SNV S899F 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 16.46 122253 chr1 67094171 67094171 G A rs12402181 MIR3117 0 0 0.167 0 0 0 0 49 0 0 5 0 1.262 122254 chr6 130761855 130761855 A T rs79097063 TMEM200A Synonymous SNV T96T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.002 122255 chr6 130762785 130762785 T G TMEM200A Synonymous SNV T406T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.071 122256 chr4 15690002 15690004 TTG - rs575501826 FAM200B L469del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 122257 chr17 45471394 45471394 C G rs142664574 EFCAB13 Nonsynonymous SNV T481R 0 0 0 4 0 0 0.01 0 0 0 0 0 0.025 122258 chr18 12115490 12115490 G C rs201296985 ANKRD62 Nonsynonymous SNV E399D 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.588 122259 chr17 46055225 46055225 G A rs200499441 CDK5RAP3 Nonsynonymous SNV G88R 0 0 0 4 0 0 0.01 0 0 0 0 0 33 122260 chr5 86707120 86707120 A G rs201537925 CCNH Star tloss M1? 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 15.34 122261 chr17 46620492 46620492 A G rs113828741 HOXB2 Nonsynonymous SNV S337P 0 0 0 2 0 0 0.005 0 0 0 0 0 17.85 122262 chr6 13615605 13615605 A G rs928171338 NOL7 Synonymous SNV R5R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.17 122263 chr6 137245516 137245516 C T rs145233182 SLC35D3 Synonymous SNV Y311Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.948 122264 chr17 47039172 47039172 G A rs139668554 GIP Synonymous SNV H89H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.572 122265 chr17 47103860 47103860 A G rs141422475 IGF2BP1 Synonymous SNV T106T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 4.611 122266 chr6 138753437 138753437 C T rs183135718 NHSL1 Nonsynonymous SNV R686H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 122267 chr18 23772363 23772363 G T PSMA8 Nonsynonymous SNV K247N 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 13.67 122268 chr4 187026607 187026607 C T rs550623234 FAM149A Nonsynonymous SNV P126L 0.009 0.01 0.017 9 11 4 0.023 5 0 0 0 0 4.697 122269 chr6 142409658 142409658 G A rs117568543 NMBR Synonymous SNV I46I 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 Benign 9.799 122270 chr1 8418972 8418972 G A rs757157743 RERE Nonsynonymous SNV A654V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 122271 chr4 1962836 1962836 C T rs754150618 NSD2 Synonymous SNV H1110H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.03 122272 chr1 8923382 8923382 T C rs151047591 ENO1 Nonsynonymous SNV N270S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 122273 chr4 26483627 26483627 G A CCKAR Nonsynonymous SNV A307V 0 0.003 0 0 0 1 0 0 0 0 0 0 31 122274 chr6 146266733 146266733 A G rs745648871 SHPRH Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 6.235 122275 chr4 2986243 2986243 G T rs753246270 GRK4 Nonsynonymous SNV G19V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 122276 chr18 47010017 47010017 A G rs138012802 C18orf32, RPL17-C18orf32 Nonsynonymous SNV V173A 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 1 2.524 122277 chr4 3449979 3449979 C T rs753605609 HGFAC Synonymous SNV F587F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 122278 chr7 107575873 107575873 G A LAMB1 Nonsynonymous SNV A1392V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.82 122279 chr6 118015248 118015248 A G rs765038821 NUS1 Nonsynonymous SNV D199G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 20.4 122280 chr4 25759312 25759312 G A rs34282052 SEL1L3 Synonymous SNV L1027L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.25 122281 chr7 117865034 117865034 T G ANKRD7 Stop gain Y50X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 122282 chr17 71189266 71189266 G C rs142719529 COG1 Nonsynonymous SNV A20P 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 Uncertain significance 28.6 122283 chr6 152786511 152786511 C T SYNE1 Nonsynonymous SNV R612K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 122284 chr6 157744521 157744521 G A TMEM242 Nonsynonymous SNV A4V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 122285 chr6 130381279 130381279 C T rs748257535 L3MBTL3 Synonymous SNV V261V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 14.24 122286 chr20 16360765 16360765 C T rs201610127 KIF16B Nonsynonymous SNV A628T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 122287 chr6 158516833 158516833 G A rs757472497 SYNJ2 Nonsynonymous SNV E1073K 0.004 0 0 0 5 0 0 0 0 0 0 0 9.865 122288 chr6 158923350 158923350 T C TULP4 Synonymous SNV Y885Y 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 122289 chr20 17943535 17943537 GAA - rs139929147 SNORD17 0 0 0.003 0 0 0 0 1 0 0 0 0 122290 chr20 18393365 18393365 G A DZANK1 Synonymous SNV L286L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.367 122291 chr20 18446022 18446022 - TA rs371169404 DZANK1, DZANK1 Frameshift insertion R3Ifs*9 0 0 0.01 0 0 0 0 3 0 0 0 0 122292 chr6 159677661 159677661 G A rs773943155 FNDC1 Synonymous SNV T1724T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 122293 chr7 131189208 131189208 C T rs150526057 PODXL Synonymous SNV L481L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 15.64 122294 chr4 57843744 57843744 G A rs760685475 NOA1 Nonsynonymous SNV P3L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.54 122295 chr6 24467493 24467493 T C rs77886247 GPLD1 Synonymous SNV P185P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.966 122296 chr20 25038571 25038571 G C rs190851026 ACSS1 Synonymous SNV G56G 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 4.844 122297 chr6 167550195 167550195 A G rs41510645 CCR6 Synonymous SNV R159R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 0.188 122298 chr20 2843255 2843255 C T rs200577599 VPS16 Nonsynonymous SNV R368W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 122299 chr19 622326 622326 C G rs61746452 POLRMT Synonymous SNV A558A 0.009 0.01 0.014 3 10 4 0.008 4 0 0 0 0 Benign 9.752 122300 chr19 643492 643492 G A rs139763814 FGF22 Nonsynonymous SNV R134H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 1.51 122301 chr20 33421660 33421660 G A rs191348838 HMGB3P1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.167 122302 chr6 158464416 158464416 A G rs61739884 SYNJ2 Synonymous SNV E23E 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 8.622 122303 chr6 158489713 158489713 G A rs61740186 SYNJ2 Synonymous SNV G347G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.5 122304 chr4 76911908 76911908 C T rs904918806 SDAD1 Synonymous SNV E29E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.58 122305 chr4 77134664 77134664 C A rs774721226 SCARB2 Synonymous SNV T11T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 23.4 122306 chr20 36767908 36767908 G T rs45621634 TGM2 Synonymous SNV I335I 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign 3.879 122307 chr17 78319114 78319114 A G rs138044665 RNF213 Nonsynonymous SNV N2327D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 0.049 122308 chr6 25851049 25851049 C A rs34376145 SLC17A3 Nonsynonymous SNV V179F 0.005 0 0 3 6 0 0.008 0 0 0 0 0 11.55 122309 chr7 150028118 150028118 C T rs140450745 ZBED6CL Stop gain Q209X 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 37 122310 chr6 26234599 26234599 T C rs773167542 H1-3 Nonsynonymous SNV K188R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.5 122311 chr20 3765527 3765529 TCC - rs769665082 CENPB E534del 0 0 0.007 0 0 0 0 2 0 0 0 0 122312 chr4 79780754 79780754 A G rs200914321 BMP2K Synonymous SNV P300P 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 7.661 122313 chr6 35838160 35838160 C T rs201655486 SRPK1 Nonsynonymous SNV G297S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.79 122314 chr4 71394470 71394470 G A rs201205218 AMTN Nonsynonymous SNV A108T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 122315 chr4 71500146 71500146 A C rs532584416 ENAM Nonsynonymous SNV K111T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.02 122316 chr4 71691017 71691017 G A rs377631575 GRSF1 Synonymous SNV H301H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.194 122317 chr4 72423590 72423590 T C rs143924311 SLC4A4 Synonymous SNV I931I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.483 122318 chr4 8297427 8297427 T A HTRA3 Nonsynonymous SNV S353T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.74 122319 chr19 2097134 2097134 C A rs754405562 IZUMO4 Nonsynonymous SNV L64M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.6 122320 chr4 73935136 73935136 G A rs761261099 COX18 Nonsynonymous SNV P114L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.796 122321 chr6 3077217 3077217 A G rs751936916 RIPK1 Nonsynonymous SNV I54V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.683 122322 chr4 75971412 75971412 C T rs62314897 PARM1 Synonymous SNV Y296Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.09 122323 chr7 156685665 156685665 G A rs776745429 LMBR1 Nonsynonymous SNV S8L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 122324 chr6 41310705 41310705 C T rs142955741 NCR2 Nonsynonymous SNV P244S 0.01 0.008 0.014 2 12 3 0.005 4 0 0 0 0 9.478 122325 chr4 862371 862371 C T rs747273014 GAK Nonsynonymous SNV S705N 0 0.005 0 0 0 2 0 0 0 0 0 0 11.05 122326 chr6 3273345 3273345 C T rs777308990 SLC22A23 Nonsynonymous SNV A388T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.79 122327 chr4 89941706 89941706 C T rs370275116 FAM13A Nonsynonymous SNV C111Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.369 122328 chr20 47896907 47896907 A C rs116993790 SNORD12B 0 0 0.007 0 0 0 0 2 0 0 0 0 13.53 122329 chr4 81124263 81124263 C T rs770130991 PRDM8 Synonymous SNV L549L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.056 122330 chr18 7036029 7036029 G A rs148234507 LAMA1 Nonsynonymous SNV T599M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 122331 chr6 21595777 21595777 A G rs553092038 SOX4 Nonsynonymous SNV S338G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 122332 chr6 21595347 21595347 G T rs757238165 SOX4 Synonymous SNV A194A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.73 122333 chr5 101593753 101593753 T C rs142437512 SLCO4C1 Synonymous SNV L389L 0 0.005 0 0 0 2 0 0 0 0 0 0 5.789 122334 chr6 26017892 26017892 C T rs527970185 H1-1 Synonymous SNV K23K 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 10.22 122335 chr6 47650137 47650137 C T rs200862951 ADGRF2 Synonymous SNV I614I 0.001 0 0.014 1 1 0 0.003 4 0 0 0 0 10.37 122336 chr18 29046606 29046606 G A rs16961975 DSG3 Nonsynonymous SNV V509M 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 24.9 122337 chr18 29049138 29049138 C T rs61730311 DSG3 Nonsynonymous SNV R575W 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 Benign 22.3 122338 chr20 57768809 57768809 C T rs61742492 ZNF831 Nonsynonymous SNV A912V 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 0.601 122339 chr19 5221202 5221202 G A rs997237570 PTPRS Synonymous SNV H657H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.174 122340 chr18 29797929 29797929 G C rs187452324 MEP1B 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 122341 chr4 88584318 88584318 A G rs34661425 DMP1 Nonsynonymous SNV K447R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 0.414 122342 chr18 33706220 33706220 A C SLC39A6 Nonsynonymous SNV F251V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.962 122343 chr4 89326742 89326742 G A rs200928476 HERC6 Synonymous SNV L417L 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 11.73 122344 chr6 28327723 28327723 A G rs367728423 ZKSCAN3 Synonymous SNV L120L 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 6.98 122345 chr20 60808666 60808666 G A rs1739584 LOC105369209 0 0 0.034 0 0 0 0 10 0 0 2 0 0.113 122346 chr6 51934300 51934300 G C rs111809699 PKHD1 Nonsynonymous SNV L245V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.35 122347 chr20 60928068 60928068 C T rs28372948 LAMA5-AS1 0 0 0.037 0 0 0 0 11 0 0 2 0 4.888 122348 chr5 118324007 118324007 G C rs778926825 DTWD2 Nonsynonymous SNV P67R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.2 122349 chr5 118451873 118451873 T G rs76268053 DMXL1 Synonymous SNV V195V 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 3.833 122350 chr5 118482975 118482975 G A rs112673276 DMXL1 Synonymous SNV A907A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 8.487 122351 chr6 43014142 43014142 G A rs369629454 CUL7 Nonsynonymous SNV S915F 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 122352 chr6 54054699 54054699 C G rs35722245 MLIP Nonsynonymous SNV S324C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.8 122353 chr6 43401027 43401027 A G rs61740187 ABCC10 Nonsynonymous SNV N394D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 26 122354 chr5 124036907 124036907 G A rs61752319 ZNF608 Nonsynonymous SNV T321M 0.003 0.016 0 0 3 6 0 0 0 0 0 0 22.9 122355 chr6 65149147 65149147 T C rs188093810 EYS Nonsynonymous SNV S1915G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.514 122356 chr18 44121800 44121800 G A rs487706 LOXHD1 Synonymous SNV D77D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 5.176 122357 chr20 62550824 62550824 G A rs2427556 MIR941-1 0 0 0.037 0 0 0 0 11 0 0 2 0 6.575 122358 chr19 8152807 8152807 G A rs116468610 FBN3 Nonsynonymous SNV P2174L 0.009 0.016 0 2 10 6 0.005 0 0 0 0 0 24.3 122359 chr7 45007287 45007287 T C rs61745695 MYO1G Nonsynonymous SNV T567A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.9 122360 chr6 74351530 74351530 T - rs794729653 SLC17A5 M137Cfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 122361 chr18 51796003 51796003 G A rs3730669 POLI Synonymous SNV A29A 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 13.66 122362 chr6 36341333 36341333 G A rs151176815 ETV7 Synonymous SNV L55L 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 7.113 122363 chr5 135397231 135397231 C T rs188333040 TGFBI Nonsynonymous SNV A650V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 22.8 122364 chr6 7879379 7879379 G T BMP6 Nonsynonymous SNV W426L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 122365 chr6 54212215 54212215 A C rs776745592 TINAG Nonsynonymous SNV N267H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 122366 chr5 1243810 1243810 G A rs768735435 SLC6A18 Synonymous SNV A424A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.716 122367 chr6 55120034 55120034 G A rs755365044 HCRTR2 Nonsynonymous SNV R168Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 122368 chr5 138728256 138728256 G A rs202094107 PROB1 Nonsynonymous SNV P839S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.047 122369 chr5 1294668 1294668 G A TERT Synonymous SNV P111P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.272 122370 chr6 41555540 41555540 C T rs1033643870 FOXP4 Synonymous SNV H294H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.912 122371 chr6 41703889 41703889 T G rs148527011 TFEB Synonymous SNV S5S 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 0.237 122372 chr5 139217266 139217266 C T rs372189501 PSD2 Synonymous SNV R574R 0.002 0.013 0 3 2 5 0.008 0 0 0 0 0 20.3 122373 chr6 96044690 96044690 A G rs575268642 MANEA Nonsynonymous SNV I208V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 14.19 122374 chr6 43154149 43154149 G A CUL9 Nonsynonymous SNV E403K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.2 122375 chr7 56022810 56022810 G C rs73360364 MRPS17 Nonsynonymous SNV S111T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 15.44 122376 chr5 140250990 140250990 C T PCDHA11 Nonsynonymous SNV L768F 0.003 0.01 0 3 3 4 0.008 0 0 0 0 0 16.59 122377 chr5 140698943 140698943 G A TAF7 Synonymous SNV F223F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.98 122378 chr5 138386670 138386670 G C rs150892227 SIL1 Nonsynonymous SNV L104V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 122379 chr6 43476645 43476645 G A rs759035607 LRRC73 Nonsynonymous SNV P96S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.3 122380 chr5 140802808 140802808 G A PCDHGA11 Nonsynonymous SNV V672I 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 0.002 122381 chr5 138858039 138858039 C A rs201096097 TMEM173 Nonsynonymous SNV G73V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Uncertain significance 22.9 122382 chr6 44272508 44272508 G A rs752676508 AARS2 Synonymous SNV D542D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.31 122383 chr21 43442385 43442385 C T rs17114159 ZNF295-AS1 0 0 0.092 0 0 0 0 27 0 0 1 0 0.318 122384 chr18 72515950 72515950 G A rs143651062 ZNF407 Synonymous SNV T1636T 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 3.045 122385 chr21 44163935 44163935 G A rs117749284 PDE9A Synonymous SNV K46K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.8 122386 chr6 47869671 47869671 C G rs17556966 PTCHD4 Nonsynonymous SNV G303A 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 3.707 122387 chr5 150072489 150072489 G A RBM22 Nonsynonymous SNV P367L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 122388 chr5 150932798 150932798 G A rs776202546 FAT2 Nonsynonymous SNV H1366Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 122389 chr19 13264359 13264359 G A IER2 Nonsynonymous SNV R120H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 122390 chr22 18299495 18299495 G A rs201187618 MICAL3 Synonymous SNV D1802D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.435 122391 chr22 18305777 18305777 G A rs189510394 MICAL3 Synonymous SNV A1081A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.22 122392 chr6 71246083 71246083 A G rs144524948 FAM135A Synonymous SNV T1133T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.007 122393 chr5 156940458 156940458 G A rs377464157 ADAM19 Nonsynonymous SNV A241V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 122394 chr7 100647758 100647758 A G rs191069047 MUC12 Synonymous SNV T4638T 0.013 0.005 0.003 1 15 2 0.003 1 0 0 0 0 0.005 122395 chr22 19196603 19196603 T G rs782013809 CLTCL1 Nonsynonymous SNV N1091H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 25.3 122396 chr5 149384419 149384419 G A HMGXB3 Nonsynonymous SNV D2N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 122397 chr22 19207491 19207491 T C rs35398725 CLTCL1 Nonsynonymous SNV K941R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.5 122398 chr22 19435212 19435212 G A rs373294206 C22orf39 Synonymous SNV D37D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.779 122399 chr5 167841391 167841391 G T rs912115698 WWC1 Nonsynonymous SNV S327I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 32 122400 chr22 20050957 20050957 C T rs73389745 TANGO2 Nonsynonymous SNV R172W 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 14.49 122401 chr7 100841516 100841516 C T rs147727424 MOGAT3 Synonymous SNV T208T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.35 122402 chr22 20939198 20939198 G A rs772860212 MED15 Synonymous SNV P509P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 122403 chr22 21357211 21357211 A G rs143702537 THAP7-AS1 0 0 0.034 0 0 0 0 10 0 0 0 0 9.166 122404 chr5 169469057 169469057 G A rs746232123 DOCK2 Nonsynonymous SNV G1266D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.765 122405 chr22 21363240 21363240 C T rs4820722 THAP7-AS1, TUBA3FP 0 0 0.061 0 0 0 0 18 0 0 2 0 5.571 122406 chr5 150947664 150947664 C G rs145834206 FAT2 Nonsynonymous SNV V277L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 16.74 122407 chr22 24827079 24827079 G A rs8141793 ADORA2A-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 4.687 122408 chr5 157214762 157214762 C G rs201102111 CLINT1 Nonsynonymous SNV M608I 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 16.08 122409 chr7 122526161 122526161 A G rs533531842 CADPS2 Synonymous SNV D77D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.354 122410 chr19 6751313 6751313 G T rs140133240 TRIP10 Synonymous SNV P586P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.51 122411 chr22 29455019 29455019 C G rs752368086 C22orf31 Nonsynonymous SNV R195T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 122412 chr7 100648198 100648198 C G MUC12 Nonsynonymous SNV T4785S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.45 122413 chr5 168727578 168727578 C G rs200126078 SLIT3 Nonsynonymous SNV D46H 0.003 0.01 0.003 1 4 4 0.003 1 0 1 0 0 26.5 122414 chr22 30200696 30200696 G A rs144908937 ASCC2 Synonymous SNV N250N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.45 122415 chr5 169139171 169139171 A G rs143942535 DOCK2 Nonsynonymous SNV M535V 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Likely benign 21.7 122416 chr5 169310159 169310159 A T INSYN2B Synonymous SNV T248T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.002 122417 chr22 30831852 30831852 G A rs11705639 LOC105372990 0 0 0.014 0 0 0 0 4 0 0 2 0 7.982 122418 chr7 102579926 102579926 C T rs139645764 LRRC17 Synonymous SNV D274D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.8 122419 chr5 170837542 170837542 T C NPM1 Synonymous SNV D159D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.871 122420 chr22 31283979 31283979 C T rs8140448 LOC107985544 0 0 0.031 0 0 0 0 9 0 0 2 0 2.515 122421 chr7 103292201 103292201 G A rs78008536 RELN Nonsynonymous SNV S600F 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 28.4 122422 chr7 105205730 105205730 G T RINT1 Nonsynonymous SNV L290F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 122423 chr5 180552074 180552074 G C rs768389949 OR2V1 Nonsynonymous SNV N77K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.83 122424 chr22 32666007 32666007 C T rs62241070 SLC5A4-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.981 122425 chr7 106685637 106685637 C A rs990309399 PRKAR2B Synonymous SNV P95P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 122426 chr7 107399213 107399213 C T rs141627101 CBLL1 Nonsynonymous SNV P355S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.52 122427 chr22 32894446 32894446 G A rs113341800 FBXO7 Nonsynonymous SNV G421S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 122428 chr7 107816991 107816991 C T rs752010098 NRCAM Nonsynonymous SNV R977Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 122429 chr19 18961608 18961608 C T rs146140734 UPF1 Synonymous SNV S247S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.37 122430 chr19 19121049 19121049 C T rs755402016 SUGP2 Synonymous SNV P651P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.58 122431 chr7 112129991 112129991 C T rs34665489 LSMEM1 Nonsynonymous SNV S128F 0.007 0 0 0 8 0 0 0 1 0 0 0 20.5 122432 chr19 8564077 8564077 C T rs371102113 PRAM1 Synonymous SNV P205P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.73 122433 chr22 38477542 38477542 A C SLC16A8 Nonsynonymous SNV L168R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 122434 chr22 38483166 38483174 CATGGGGGA - rs756939074 BAIAP2L2 S406_M408del 0 0 0.003 0 0 0 0 1 0 0 0 0 122435 chr7 121716610 121716610 C T rs145309509 AASS Nonsynonymous SNV G905E 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 20.3 122436 chr5 37243130 37243130 A G rs370118778 CPLANE1 Nonsynonymous SNV V221A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 5.07 122437 chr7 122342356 122342356 A G rs746039789 RNF148 Nonsynonymous SNV I150T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.328 122438 chr7 122634946 122634946 A G rs760959029 TAS2R16 Nonsynonymous SNV I248T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.011 122439 chr5 38946608 38946608 T C rs61748206 RICTOR Nonsynonymous SNV D1169G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 20.8 122440 chr5 39202150 39202150 C T rs778631389 FYB1 Nonsynonymous SNV A315T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.198 122441 chr7 123267310 123267310 C T rs116956332 ASB15 Stop gain R282X 0.003 0 0 0 4 0 0 0 0 0 0 0 37 122442 chr22 40681656 40681656 G A rs756599322 TNRC6B Nonsynonymous SNV S1087N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.02 122443 chr7 100699525 100699525 T C rs147613804 MUC17 Synonymous SNV L4472L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 0.014 122444 chr5 41186186 41186186 T G rs115613673 C6 Nonsynonymous SNV N238H 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 12.1 122445 chr22 42354488 42354489 GA - rs762454124 LINC00634 0 0 0.01 0 0 0 0 3 0 0 0 0 122446 chr22 42477937 42477937 C T rs759412844 SMDT1 Synonymous SNV F65F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 122447 chr22 43583051 43583051 G A rs146647114 TTLL12 Nonsynonymous SNV R9C 0.008 0.005 0.007 6 9 2 0.015 2 1 0 0 0 19.93 122448 chr7 127253550 127253550 C T rs2233580 PAX4 Nonsynonymous SNV R200H 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 35 122449 chr7 127721552 127721552 C G rs1038704250 SND1 Synonymous SNV T703T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.506 122450 chr7 127975985 127975987 TCA - rs371731521 RBM28 D100del 0.002 0 0 0 2 0 0 0 0 0 0 0 122451 chr7 128483475 128483475 G A rs1034531656 FLNC Synonymous SNV G885G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.59 122452 chr7 112112861 112112861 C T rs770267292 IFRD1 Nonsynonymous SNV P354L 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 28.3 122453 chr7 128612507 128612507 G T TNPO3 Nonsynonymous SNV D737E 0.003 0 0 0 4 0 0 0 0 0 0 0 15.06 122454 chr7 129098165 129098165 G A rs2242030 STRIP2 Nonsynonymous SNV R383Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.26 122455 chr19 36004311 36004311 G T rs148307689 DMKN Nonsynonymous SNV P23T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 122456 chr22 45741362 45741362 G A rs369991859 SMC1B Nonsynonymous SNV A1121V 0 0 0.003 0 0 0 0 1 0 0 0 0 30 122457 chr5 54527473 54527473 C G CCNO Synonymous SNV L261L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.128 122458 chr7 130295954 130295954 G C rs181367479 COPG2 Nonsynonymous SNV L203V 0.003 0 0 0 4 0 0 0 0 0 0 0 21.4 122459 chr5 37301612 37301612 C T rs750056606 NUP155 Nonsynonymous SNV R1099K 0.012 0.008 0 1 14 3 0.003 0 0 0 0 0 21.5 122460 chr22 46505173 46505173 C G rs73177018 MIRLET7BHG 0 0 0.007 0 0 0 0 2 0 0 0 0 4.124 122461 chr5 37396652 37396660 GAGGAAGAG - rs767969912 WDR70 E140_E142del 0.001 0 0 0 1 0 0 0 0 0 0 0 122462 chr7 131870108 131870108 A G rs3734980 PLXNA4 Synonymous SNV Y1036Y 0.011 0.008 0.003 1 13 3 0.003 1 1 0 0 0 0.004 122463 chr7 131895883 131895883 C T rs766893062 PLXNA4 Nonsynonymous SNV R706Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 122464 chr7 131908302 131908302 C T rs200493064 PLXNA4 Nonsynonymous SNV R694Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 122465 chr22 46929828 46929828 C T rs138357150 CELSR1 Synonymous SNV P1080P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 11.1 122466 chr7 133881794 133881794 T C rs35258804 LRGUK Synonymous SNV N494N 0.003 0.005 0.014 3 4 2 0.008 4 0 0 0 0 8.927 122467 chr7 133906622 133906622 C T rs35965572 LRGUK Synonymous SNV N645N 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 9.165 122468 chr22 47311934 47311934 C T rs9616151 TBC1D22A-AS1 0 0 0.061 0 0 0 0 18 0 0 2 0 0.891 122469 chr22 50217030 50217030 G A rs771198220 BRD1 Synonymous SNV I312I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.975 122470 chr5 56542226 56542226 A G rs138092435 GPBP1 Nonsynonymous SNV N200S 0.019 0.01 0.017 7 22 4 0.018 5 0 0 0 0 0.074 122471 chr22 50279060 50279060 C T rs201734469 ZBED4 Nonsynonymous SNV R584W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 122472 chr19 9641717 9641717 A C rs142298564 ZNF426 Nonsynonymous SNV W80G 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 0.001 122473 chr7 135412164 135412164 G A rs149321060 SLC13A4 Synonymous SNV P27P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.13 122474 chr7 138305852 138305852 C A rs142327276 SVOPL Nonsynonymous SNV G279V 0.004 0 0.01 0 5 0 0 3 0 0 0 0 34 122475 chr19 10445288 10445288 C T ICAM3 Nonsynonymous SNV G274R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.166 122476 chr7 130356569 130356569 C T rs141803707 TSGA13 Nonsynonymous SNV R197K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.38 122477 chr5 73188015 73188015 C T rs756948344 ARHGEF28 Nonsynonymous SNV R863C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 122478 chr19 11516012 11516012 C G rs144008613 RGL3 Nonsynonymous SNV G363R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.7 122479 chr7 151878114 151878114 C A KMT2C Nonsynonymous SNV R2277S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.3 122480 chr7 154681009 154681009 G A rs188276022 DPP6 Nonsynonymous SNV A671T 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 15.19 122481 chr19 12223286 12223286 T A ZNF788P Stop gain Y308X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 122482 chr19 12845307 12845307 G C TRIR Synonymous SNV G55G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 122483 chr19 39234681 39234681 G A rs142478131 CAPN12 Nonsynonymous SNV S42L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 20.2 122484 chr5 74981153 74981153 G A rs146984380 POC5 Nonsynonymous SNV A404V 0.004 0.013 0.007 1 5 5 0.003 2 0 0 0 0 22.6 122485 chr2 102792876 102792876 G A rs763067881 IL1R1 Nonsynonymous SNV R312K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.277 122486 chr5 6714617 6714617 C T rs867135528 TENT4A Nonsynonymous SNV P174L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.395 122487 chr8 17797255 17797255 G A rs1044676393 PCM1 Nonsynonymous SNV R223Q 0.003 0 0 0 3 0 0 0 0 0 0 0 33 122488 chr19 40541234 40541234 T C rs375102929 ZNF780B Nonsynonymous SNV N511S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.085 122489 chr7 21630614 21630614 T G rs776959465 DNAH11 Nonsynonymous SNV F750V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 24.7 122490 chr8 193756 193756 A G rs75868281 ZNF596 Synonymous SNV Q58Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.036 122491 chr8 20005522 20005522 G A SLC18A1 Synonymous SNV A370A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.6 122492 chr5 80736449 80736449 T C rs139911197 SSBP2 Nonsynonymous SNV M266V 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 18.34 122493 chr2 11761043 11761043 G A rs551655017 GREB1 Nonsynonymous SNV G1353S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 122494 chr5 82833199 82833199 G A rs758230688 VCAN Synonymous SNV T472T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.25 122495 chr5 82833414 82833414 A G VCAN Nonsynonymous SNV H544R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.211 122496 chr19 42314899 42314899 C G rs149073935 CEACAM3 Nonsynonymous SNV P202A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 1.368 122497 chr2 120194722 120194722 C T rs370367562 TMEM37 Synonymous SNV S93S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 122498 chr7 158824725 158824725 C T rs142898881 VIPR2 Synonymous SNV P319P 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 15.71 122499 chr7 18067054 18067054 T G rs201218255 PRPS1L1 Nonsynonymous SNV I118L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 14.11 122500 chr2 131671839 131671839 A C rs778461923 ARHGEF4 Nonsynonymous SNV D107A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.212 122501 chr5 96232568 96232568 - TAAGTCATATGTTGGGTAACGATAGACTGTTATTTAATCTAGAAAGTAACAGAATAATTGTGAATGTTTATAAATAGCTGTATATTGTCAGTCAACCATA ERAP2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 122502 chr8 26627895 26627895 G A rs151273238 ADRA1A Nonsynonymous SNV T391M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 26 122503 chr5 82789442 82789442 G A rs774254263 VCAN Nonsynonymous SNV V175I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.244 122504 chr7 149487463 149487463 G C rs765467743 SSPO 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.32 122505 chr2 136566576 136566576 T C rs148838160 LCT Nonsynonymous SNV Q1114R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.015 122506 chr7 149518560 149518560 C T rs200596597 SSPO 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.71 122507 chr8 27462461 27462461 G A rs149705964 CLU Nonsynonymous SNV P270L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.952 122508 chr7 33376148 33376148 T C rs138436479 BBS9 Nonsynonymous SNV V249A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 20.7 122509 chr6 10874606 10874606 G A rs371580994 GCM2 Synonymous SNV T381T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.538 122510 chr19 45385534 45385534 T C rs374589262 NECTIN2 Nonsynonymous SNV I370T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.4 122511 chr19 45575140 45575140 C T rs896126704 ZNF296 Nonsynonymous SNV G383R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.8 122512 chr8 33310935 33310935 G A rs16880994 FUT10 Nonsynonymous SNV L59F 0.016 0.018 0.014 4 19 7 0.01 4 1 0 0 0 23.1 122513 chr8 33318913 33318913 C T rs77009471 FUT10 Nonsynonymous SNV V20I 0.016 0.018 0.01 3 19 7 0.008 3 1 0 0 0 5.463 122514 chr7 150761700 150761700 C T rs146857685 SLC4A2 Nonsynonymous SNV P93L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 19 122515 chr7 38796519 38796519 G A rs146405914 VPS41 Synonymous SNV D513D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.53 122516 chr6 110300811 110300811 C A rs752098850 GPR6 Nonsynonymous SNV R166S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 122517 chr7 150835306 150835306 C T rs200388029 AGAP3 Synonymous SNV R524R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.86 122518 chr6 11104004 11104004 G A ERVFRD-1 Nonsynonymous SNV R514C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.1 122519 chr2 158156095 158156095 A C rs61748238 GALNT5 Nonsynonymous SNV D678A 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 28.2 122520 chr2 158978085 158978085 C T rs147775009 UPP2 Nonsynonymous SNV P207S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 23.8 122521 chr7 31139776 31139776 G A rs138481612 ADCYAP1R1 Nonsynonymous SNV R361Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.5 122522 chr6 10586593 10586593 A G GCNT2 Nonsynonymous SNV Y124C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 122523 chr8 42042644 42042644 C T rs765577929 PLAT Nonsynonymous SNV G150R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.04 122524 chr19 47729885 47729885 G A BBC3 Nonsynonymous SNV A72V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.72 122525 chr6 117128023 117128023 T C rs144964096 GPRC6A Nonsynonymous SNV H282R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.63 122526 chr19 47884089 47884089 G A rs142828801 DHX34 Nonsynonymous SNV R1000Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24 122527 chr7 158719713 158719713 G A rs566913816 WDR60 Nonsynonymous SNV A631T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 122528 chr19 48830871 48830871 A - rs778509172 EMP3 S58Afs*6 0.001 0.003 0 0 1 1 0 0 0 0 0 0 122529 chr7 23207657 23207657 G T KLHL7 0.005 0.003 0 0 6 1 0 0 0 0 0 0 25.4 122530 chr8 71040961 71040961 A T rs770970470 NCOA2 Synonymous SNV L1124L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.079 122531 chr7 24727201 24727201 C T rs749972521 MPP6 Nonsynonymous SNV P531S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 21.8 122532 chr2 170761754 170761754 G A rs766675016 UBR3 Synonymous SNV E532E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.328 122533 chr19 30500122 30500124 TGA - URI1 D293del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 122534 chr19 31767537 31767537 G A rs145440380 TSHZ3 Synonymous SNV H1054H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 122535 chr19 31767966 31767966 G A rs143837071 TSHZ3 Synonymous SNV A911A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 122536 chr6 138753103 138753103 C T rs933622672 NHSL1 Synonymous SNV P797P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.937 122537 chr19 33968997 33968997 C G PEPD 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 122538 chr19 34791822 34791822 T C rs62122214 KIAA0355 Synonymous SNV A148A 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 1.043 122539 chr19 34986644 34986644 A G rs753184914 WTIP Nonsynonymous SNV R374G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 122540 chr7 27833984 27833984 C T rs768281843 TAX1BP1 Stop gain Q328X 0.005 0.003 0 0 6 1 0 0 0 0 0 0 39 122541 chr6 123818394 123818394 T C rs200068375 TRDN Nonsynonymous SNV Q266R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Uncertain significance 25.4 122542 chr19 33696729 33696729 C G rs574301028 LRP3 Synonymous SNV A351A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.525 122543 chr6 146755553 146755553 C T rs79336287 GRM1 Nonsynonymous SNV P1069L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign/Likely benign 20.8 122544 chr19 50017701 50017701 C T rs145251123 FCGRT Nonsynonymous SNV R187W 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 32 122545 chr6 146975339 146975339 C T rs7747387 ADGB Synonymous SNV S133S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 19.34 122546 chr6 146993573 146993573 G C rs73571870 ADGB Nonsynonymous SNV A353P 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.003 122547 chr6 146997491 146997491 A T rs201516035 ADGB Nonsynonymous SNV D377V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 23.4 122548 chr19 36159318 36159318 G A rs372785290 UPK1A-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 2.634 122549 chr6 130465739 130465739 C T rs757262361 SAMD3 Nonsynonymous SNV D521N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 122550 chr7 44084349 44084349 C G DBNL Nonsynonymous SNV L5V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27 122551 chr7 44089863 44089863 C T rs145680549 DBNL Nonsynonymous SNV A9V 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 18.82 122552 chr2 179638968 179638968 G A rs761409144 TTN Synonymous SNV D2295D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.203 122553 chr7 6537698 6537698 G A rs1017118376 GRID2IP Synonymous SNV F1187F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.765 122554 chr7 31877537 31877537 A C PDE1C Synonymous SNV S343S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.093 122555 chr19 36278364 36278364 C G rs369975302 ARHGAP33 Nonsynonymous SNV P830R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 122556 chr7 45744120 45744120 A G rs759334023 ADCY1 Nonsynonymous SNV M908V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 122557 chr6 152615148 152615148 C T rs113962905 SYNE1 Nonsynonymous SNV A5862T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 22.3 122558 chr6 1391086 1391088 GGC - rs759140426 FOXF2 G306del 0.001 0 0 0 1 0 0 0 0 0 0 0 122559 chr6 139234042 139234042 T C rs202229416 REPS1 Nonsynonymous SNV I520V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.156 122560 chr7 75183810 75183810 G A rs200918019 HIP1 Nonsynonymous SNV T660M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.55 122561 chr7 39991125 39991125 A G rs763530459 CDK13 Synonymous SNV E295E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.096 122562 chr7 64439563 64439563 C T rs766219181 ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV R129K 0.003 0 0 0 4 0 0 0 0 0 0 0 0.529 122563 chr6 155469345 155469345 G A rs150185368 TIAM2 Synonymous SNV L635L 0 0.005 0 0 0 2 0 0 0 0 0 0 1.397 122564 chr7 6449937 6449937 G A rs201919863 DAGLB Synonymous SNV D419D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.575 122565 chr6 146268668 146268668 A C rs774888533 SHPRH Synonymous SNV T391T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.677 122566 chr7 80301263 80301263 T G CD36 Synonymous SNV P305P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.08 122567 chr7 80301309 80301309 T A CD36 Nonsynonymous SNV L321I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26 122568 chr7 50514436 50514436 G A rs142215430 FIGNL1 Nonsynonymous SNV L184F 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.001 122569 chr19 38127030 38127030 T C rs113160531 ZFP30 Nonsynonymous SNV T138A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 122570 chr2 190617411 190617411 - A rs568165204 OSGEPL1 Frameshift insertion L389Ffs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 122571 chr7 81641500 81641500 G A rs73151504 CACNA2D1 Synonymous SNV V444V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 11.48 122572 chr7 73085442 73085442 G A rs186005344 VPS37D Synonymous SNV Q164Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.914 122573 chr7 53103436 53103436 A G rs755474193 POM121L12 Synonymous SNV Q24Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.007 122574 chr9 112182796 112182796 C T rs142732873 PTPN3 Synonymous SNV T75T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.64 122575 chr19 38876798 38876798 C T rs148446446 GGN Synonymous SNV G368G 0.019 0.005 0.007 6 22 2 0.015 2 0 0 0 0 Benign 15.74 122576 chr6 159672347 159672347 G A rs45576631 FNDC1 Synonymous SNV T1616T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 11.84 122577 chr2 197870536 197870536 T C rs149494060 ANKRD44 Synonymous SNV A743A 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 5.779 122578 chr7 55259538 55259538 G A rs756703787 EGFR Nonsynonymous SNV E599K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 29.1 122579 chr7 47698550 47698550 A G rs370209990 C7orf65 Synonymous SNV K60K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.038 122580 chr7 92731759 92731759 - A rs199887936 SAMD9 Stop gain D1218* 0.001 0 0 0 1 0 0 0 0 0 0 0 122581 chr7 80300346 80300346 A G rs200752989 CD36 Nonsynonymous SNV Y252C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25.6 122582 chr7 92734065 92734065 T C rs10239435 SAMD9 Nonsynonymous SNV N449S 0.005 0 0.003 0 6 0 0 1 0 0 0 0 0.002 122583 chr2 203058916 203058916 G A KIAA2012 Synonymous SNV L1006L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 122584 chr2 203395530 203395530 T C rs149225691 BMPR2 Synonymous SNV P327P 0 0 0.017 0 0 0 0 5 0 0 0 0 Likely benign 3.87 122585 chr19 39666045 39666045 G A rs11559036 PAK4 Synonymous SNV K289K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 122586 chr6 158483161 158483161 C T rs376745407 SYNJ2 Synonymous SNV F127F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.353 122587 chr19 41268874 41268874 G A rs146065356 SNRPA Synonymous SNV P165P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.05 122588 chr6 159457869 159457869 T A rs75182303 TAGAP Nonsynonymous SNV T333S 0.003 0.003 0.007 5 3 1 0.013 2 0 0 0 0 5.784 122589 chr19 40719708 40719708 G A MAP3K10 Nonsynonymous SNV G708S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 122590 chr7 98574595 98574595 C T rs143671681 TRRAP Synonymous SNV L2736L 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 13.35 122591 chr6 168708377 168708377 C T rs200959284 DACT2 Nonsynonymous SNV S517N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 122592 chr2 210962861 210962861 A G rs772965844 KANSL1L Nonsynonymous SNV L500P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.6 122593 chr6 17688694 17688694 G A rs150847776 NUP153 Synonymous SNV A89A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 7.846 122594 chr2 211521333 211521333 A G rs141373204 CPS1 Nonsynonymous SNV I1215V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 122595 chr7 92147202 92147202 C T rs200752969 PEX1 Star tloss M209I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Uncertain significance 0.022 122596 chr19 54721287 54721287 A T rs76445385 LILRB3 Nonsynonymous SNV S551R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 122597 chr8 110454390 110454390 A T PKHD1L1 Nonsynonymous SNV K1453N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 122598 chr7 83021972 83021972 A G rs61636768 SEMA3E Synonymous SNV Y462Y 0.006 0.013 0.014 2 7 5 0.005 4 0 0 0 0 Benign 5.851 122599 chr8 11421584 11421584 G C rs752948515 BLK Synonymous SNV T424T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.07 122600 chr7 99161497 99161506 CGCCTTCCCA - rs558237705 ZNF655 R50Pfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 122601 chr7 99566007 99566007 G A rs8192465 AZGP1 Synonymous SNV N128N 0.011 0.023 0.007 7 13 9 0.018 2 0 0 0 0 0.06 122602 chr7 87835811 87835811 T C rs35163776 SRI Synonymous SNV Q193Q 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 1.713 122603 chr2 219510918 219510918 A G rs372301169 ZNF142 Nonsynonymous SNV M476T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 122604 chr7 99751520 99751520 C T rs143820384 LAMTOR4 Nonsynonymous SNV T51M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 122605 chr7 73535599 73535599 G A rs376617300 LIMK1 Nonsynonymous SNV G604R 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 23.2 122606 chr8 100883793 100883793 C T rs139436386 VPS13B Synonymous SNV F3896F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.19 122607 chr19 55604200 55604200 G A rs752386250 PPP1R12C Nonsynonymous SNV A619V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.3 122608 chr7 75192525 75192525 G A rs182112086 HIP1 Synonymous SNV F282F 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Likely benign 13.98 122609 chr6 28097558 28097558 A C rs200359435 ZSCAN16 Nonsynonymous SNV K293Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.92 122610 chr7 77166952 77166952 G A rs138381153 PTPN12 Nonsynonymous SNV R30Q 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 15.35 122611 chr19 45648919 45648919 G A PPP1R37 Synonymous SNV T535T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.66 122612 chr7 94163054 94163054 T A rs149101002 CASD1 Nonsynonymous SNV S5T 0.019 0.018 0.014 6 22 7 0.015 4 1 0 0 0 13.49 122613 chr7 94268733 94268733 A G rs142744182 SGCE Nonsynonymous SNV I46T 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 19.08 122614 chr19 45895276 45895276 G A rs772790679 PPP1R13L Synonymous SNV P559P 0 0 0 2 0 0 0.005 0 0 0 0 0 5.532 122615 chr7 87049368 87049368 G A rs148865252 ABCB4 Synonymous SNV G780G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Uncertain significance 12.82 122616 chr19 46202131 46202131 C T rs145016874 QPCTL Nonsynonymous SNV R193C 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 34 122617 chr8 132051701 132051701 G T rs199902296 ADCY8 Synonymous SNV I293I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.49 122618 chr6 34059697 34059697 G A rs147871838 GRM4 Synonymous SNV S164S 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 13.77 122619 chr8 117950524 117950524 C T rs147761000 AARD Synonymous SNV S14S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 122620 chr7 90895059 90895059 C T rs201304517 FZD1 Synonymous SNV Y288Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.338 122621 chr7 91603085 91603085 A G rs752156538 AKAP9 Nonsynonymous SNV K37E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Uncertain significance 23.6 122622 chr6 27278779 27278779 G A rs386469230 POM121L2 Nonsynonymous SNV P391S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.425 122623 chr19 47646764 47646764 C T rs778336657 SAE1 Nonsynonymous SNV R38W 0.003 0 0 0 3 0 0 0 0 0 0 0 35 122624 chr19 56459539 56459539 C T rs374619959 NLRP8 Nonsynonymous SNV R91C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.655 122625 chr9 132630388 132630388 G A rs200118285 USP20 Synonymous SNV S265S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.357 122626 chr8 124382159 124382161 TCA - rs772516106 ATAD2 D277del 0.011 0.023 0.017 7 13 9 0.018 5 0 1 0 0 122627 chr19 56703271 56703271 G A rs199497935 ZSCAN5B Nonsynonymous SNV A179V 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 11.82 122628 chr19 56720159 56720159 T C rs201605886 ZSCAN5C Nonsynonymous SNV C361R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.1 122629 chr6 39893510 39893510 G A rs61746375 MOCS1 Synonymous SNV L23L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 10.75 122630 chr2 234703054 234703056 CTT - MROH2A L291del 0 0 0.003 0 0 0 0 1 0 0 0 0 122631 chr6 36681695 36681695 G A RAB44 Nonsynonymous SNV E100K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 122632 chr6 41621160 41621160 C T rs143230529 MDFI Synonymous SNV D135D 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 12.35 122633 chr8 133899517 133899517 G A rs116417639 TG Nonsynonymous SNV G634R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 122634 chr8 119938738 119938738 A G rs558927039 TNFRSF11B Nonsynonymous SNV I271T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 122635 chr6 38738337 38738337 T C rs77769111 DNAH8 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 24.8 122636 chr6 38743685 38743685 C T rs78139815 DNAH8 Synonymous SNV D423D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.31 122637 chr2 238730417 238730417 C G rs140651509 RBM44 Nonsynonymous SNV Q719E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 122638 chr6 39040701 39040701 A G rs10305475 GLP1R Synonymous SNV A191A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.93 122639 chr6 39053719 39053719 G A rs10305510 GLP1R Nonsynonymous SNV R421Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22 122640 chr6 39159213 39159213 C A rs35556399 KCNK5 Nonsynonymous SNV G318V 0.006 0 0.003 0 7 0 0 1 0 0 0 0 14.45 122641 chr19 58199627 58199627 C T rs35938383 ZNF551 Nonsynonymous SNV R634W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.6 122642 chr8 144894538 144894538 T C rs368349172 SCRIB Synonymous SNV L268L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.264 122643 chr8 125132009 125132009 G A rs182687634 FER1L6 Nonsynonymous SNV R1851Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.2 122644 chr6 46659431 46659431 T G rs149966301 TDRD6 Nonsynonymous SNV L1189W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.735 122645 chr8 127568833 127568833 C G rs144431781 LRATD2 Nonsynonymous SNV E268Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.9 122646 chr2 241991874 241991874 G A SNED1 Nonsynonymous SNV R691Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 122647 chr19 59058770 59058770 G A TRIM28 Nonsynonymous SNV R205H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 122648 chr2 242082309 242082309 G A PASK Nonsynonymous SNV H47Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 122649 chr19 50436269 50436269 G A rs200973162 ATF5 Nonsynonymous SNV V257M 0.003 0 0 0 3 0 0 0 0 0 0 0 25 122650 chr6 46836636 46836636 C A ADGRF5 Synonymous SNV S535S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.91 122651 chr6 42848664 42848664 A G rs147359090 RPL7L1 Nonsynonymous SNV K36R 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 22.2 122652 chr6 45882128 45882128 G A rs141036777 CLIC5 Nonsynonymous SNV T301I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 122653 chr6 46424532 46424532 G A rs534692644 RCAN2 Nonsynonymous SNV A61V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 122654 chr6 52144382 52144382 G A rs769766628 MCM3 Nonsynonymous SNV P137S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 122655 chr8 141310665 141310665 C T TRAPPC9 Nonsynonymous SNV M548I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.08 122656 chr8 146278209 146278209 T A C8orf33 Nonsynonymous SNV S82T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 16.4 122657 chr2 29294528 29294528 G A rs182248363 PCARE Nonsynonymous SNV P867L 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.48 122658 chr6 56366402 56366402 C G rs199549741 DST Nonsynonymous SNV E3929D 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Uncertain significance 17.32 122659 chr2 29416562 29416562 C T rs1060500213 ALK Nonsynonymous SNV R396Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.02 122660 chr6 56919075 56919075 - T KIAA1586 Stop gain K567* 0 0.003 0 0 0 1 0 0 0 0 0 0 122661 chr6 64498045 64498045 G A rs913910892 EYS Nonsynonymous SNV T2559I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 122662 chr2 32641041 32641041 G A rs144184005 BIRC6 Synonymous SNV T894T 0 0.003 0.01 0 0 1 0 3 0 0 0 0 8.202 122663 chr8 144992355 144992355 C T rs375097273 PLEC Synonymous SNV S3864S 0.007 0 0 0 8 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.731 122664 chr8 195574 195574 A G ZNF596 Nonsynonymous SNV R243G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 122665 chr20 3025192 3025192 C A rs140751719 GNRH2 Synonymous SNV P44P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.317 122666 chr8 144463451 144463451 G C rs915270618 RHPN1 Nonsynonymous SNV Q475H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.617 122667 chr2 3523157 3523157 G T rs755521016 ADI1 Synonymous SNV L34L 0 0 0.007 0 0 0 0 2 0 0 0 0 4.509 122668 chr2 35696519 35696519 G A rs62143301 MIR548AD 0 0 0.065 0 0 0 0 19 0 0 1 0 3.414 122669 chr6 54804573 54804573 C A rs142915319 FAM83B Synonymous SNV S268S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.36 122670 chr2 37265159 37265159 C T rs369652571 HEATR5B Nonsynonymous SNV A1019T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 122671 chr6 56328399 56328399 C T rs554371778 DST Synonymous SNV A4994A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 122672 chr2 38298027 38298027 C T rs765210749 CYP1B1 Synonymous SNV Q490Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.05 122673 chr8 22886063 22886063 C T rs139403599 TNFRSF10B Nonsynonymous SNV E177K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 122674 chr19 54660563 54660563 G A rs143582608 LENG1 Synonymous SNV G171G 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 7.378 122675 chr19 54675729 54675729 T C rs114495857 TMC4 Nonsynonymous SNV K74R 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 0.307 122676 chr2 48032052 48032052 G A rs63750257 MSH6 Nonsynonymous SNV G1018S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 122677 chr6 73332283 73332283 C T rs150254819 KCNQ5 Synonymous SNV P122P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.29 122678 chr9 2170437 2170437 G A rs558384854 SMARCA2 Synonymous SNV V1406V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 122679 chr8 1497260 1497260 G A rs200052111 DLGAP2 Nonsynonymous SNV R214K 0.004 0 0.01 0 5 0 0 3 0 0 0 0 17.69 122680 chr8 25253202 25253202 G A rs199647754 DOCK5 Synonymous SNV P1557P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.84 122681 chr20 18574445 18574445 G A rs35862400 DTD1 Synonymous SNV T38T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.42 122682 chr2 55122150 55122150 G A rs549781967 EML6 Synonymous SNV S947S 0 0 0.003 0 0 0 0 1 0 0 0 0 14 122683 chr8 17396420 17396420 C A rs200077616 SLC7A2 Nonsynonymous SNV S29R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 122684 chr8 26481822 26481822 C T rs139123217 DPYSL2 Synonymous SNV H264H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Likely benign 10.12 122685 chr7 100159982 100159982 C T rs757514862 AGFG2 Synonymous SNV P326P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.5 122686 chr6 86253348 86253348 G A rs12720480 SNX14 Synonymous SNV P369P 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Benign 9.921 122687 chr8 19809375 19809375 A C rs147309575 LPL Synonymous SNV S115S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.148 122688 chr7 100482922 100482922 G A rs139980891 SRRT Synonymous SNV P415P 0 0.005 0 0 0 2 0 0 0 0 0 0 7.336 122689 chr8 3266952 3266952 G A rs200980155 CSMD1 Synonymous SNV S579S 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Benign 11.58 122690 chr8 33449550 33449550 C T rs144929688 DUSP26 Nonsynonymous SNV R206Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.9 122691 chr8 33451130 33451130 G A rs11989709 DUSP26 Synonymous SNV H119H 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 9.371 122692 chr2 71206254 71206254 C T rs11549805 ANKRD53 Synonymous SNV H66H 0.003 0 0.01 1 3 0 0.003 3 0 0 1 0 9.487 122693 chr8 21996199 21996199 G A rs117450750 REEP4 Nonsynonymous SNV R221C 0.008 0.005 0.017 0 9 2 0 5 0 0 0 0 31 122694 chr6 90397263 90397263 T A rs542094219 LOC101929057 0.002 0 0 0 2 0 0 0 0 0 0 0 5.336 122695 chr2 71651130 71651130 A G rs772037528 ZNF638 Nonsynonymous SNV R1496G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 122696 chr2 73677777 73677777 A G rs760866713 ALMS1 Nonsynonymous SNV T1374A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 3.85 122697 chr2 85590286 85590286 C T rs7564372 ELMOD3 Nonsynonymous SNV R66C 0.012 0.018 0.054 5 14 7 0.013 16 0 0 0 0 Benign 24.3 122698 chr2 85768984 85768984 T C rs143610695 MAT2A Synonymous SNV T146T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.92 122699 chr2 85892785 85892785 G A rs3024801 SFTPB Nonsynonymous SNV L176F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.5 122700 chr2 85895259 85895259 C T rs3024793 SFTPB Synonymous SNV T16T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 10.55 122701 chr2 86357852 86357852 C T rs377530431 PTCD3 Nonsynonymous SNV P410L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 122702 chr19 57065253 57065253 A T ZFP28 Nonsynonymous SNV T367S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 122703 chr8 67086762 67086762 T C rs61753689 TRIM55 Synonymous SNV S220S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.051 122704 chr8 21955034 21955034 C T rs190462850 FAM160B2 Nonsynonymous SNV P102L 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 26.3 122705 chr9 79910720 79910720 T C rs758161912 VPS13A Nonsynonymous SNV I1218T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.5 122706 chr8 28971008 28971008 G T KIF13B Nonsynonymous SNV T1301N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 122707 chr19 58867828 58867828 C A rs201467235 ZNF497 Nonsynonymous SNV G392C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 122708 chr3 107647177 107647177 A G rs181495435 LINC00636 0 0 0.003 0 0 0 0 1 0 0 0 0 2.974 122709 chr8 86245771 86245771 T A rs757731644 CA1 Nonsynonymous SNV I32F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 25.8 122710 chr19 59023117 59023117 G A rs748370633 SLC27A5 Nonsynonymous SNV A69V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.313 122711 chr8 41542093 41542093 G A rs34265667 ANK1 Synonymous SNV R1502R 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Benign/Likely benign 7.737 122712 chr8 41543675 41543675 G A rs34664882 ANK1 Nonsynonymous SNV A1462V 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Benign/Likely benign 15.92 122713 chr8 92082655 92082655 C G rs758606974 OTUD6B Nonsynonymous SNV L15V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.8 122714 chr3 11070958 11070958 C A rs112095333 SLC6A1 Nonsynonymous SNV L237I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.1 122715 chr3 111760824 111760824 T C rs369592122 TMPRSS7 Nonsynonymous SNV I7T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 122716 chr8 27145457 27145457 C - TRIM35 L365Cfs*47 0.001 0.003 0 0 1 1 0 0 0 0 0 0 122717 chr8 48650153 48650153 G C rs200641900 CEBPD Nonsynonymous SNV A177G 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 0.024 122718 chr8 27308330 27308330 T C PTK2B Nonsynonymous SNV V760A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.796 122719 chr8 18793628 18793628 T C rs766431950 PSD3 Nonsynonymous SNV N16D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 21.8 122720 chr8 95795951 95795951 C G DPY19L4 Nonsynonymous SNV A590G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.757 122721 chr8 62430611 62430611 T C rs151278995 ASPH Nonsynonymous SNV T629A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 21.2 122722 chr8 95844359 95844361 CTA - rs777500986 INTS8 T238del 0.001 0 0 0 1 0 0 0 0 0 0 0 122723 chr8 27927129 27927129 G A rs75989631 NUGGC Synonymous SNV N63N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.83 122724 chr8 97321823 97321823 G A PTDSS1 Nonsynonymous SNV R203H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 122725 chr20 60902377 60902377 C T rs898963020 LAMA5 Nonsynonymous SNV R1675H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.83 122726 chr8 32505337 32505337 C A rs34918173 NRG1 Nonsynonymous SNV A34E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.1 122727 chr8 32617752 32617752 G A rs61731510 NRG1 Nonsynonymous SNV E212K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 122728 chr8 32621514 32621514 C T rs572301736 NRG1 Nonsynonymous SNV A349V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.272 122729 chr8 32621805 32621805 C A rs73672607 NRG1 Nonsynonymous SNV P446H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 122730 chr3 120768488 120768488 G A rs116794702 MIR5682 0 0 0.01 0 0 0 0 3 0 0 0 0 2.979 122731 chr20 61458135 61458135 G A rs139573483 COL9A3 Nonsynonymous SNV R252Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 23.1 122732 chr9 104171845 104171845 C G rs112338244 ZNF189 Nonsynonymous SNV H585D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.6 122733 chr7 100686037 100686037 C T rs138649661 MUC17 Synonymous SNV Y3780Y 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.371 122734 chr8 74893653 74893653 G A rs77410280 TMEM70 Nonsynonymous SNV V194M 0.014 0.016 0.024 2 17 6 0.005 7 0 0 0 0 Benign 9.206 122735 chr20 2443670 2443670 C T SNORD119 0.001 0 0 0 1 0 0 0 0 0 0 0 6.16 122736 chr20 2597744 2597744 T C TMC2 Nonsynonymous SNV L656P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 122737 chr9 112898733 112898733 G A rs369593921 PALM2AKAP2 Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 122738 chr20 3147411 3147411 C T rs138695309 LZTS3 Synonymous SNV P133P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.919 122739 chr7 123136814 123136814 G A rs781703851 IQUB Synonymous SNV D390D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.484 122740 chr3 125271349 125271349 T C rs148933368 OSBPL11 Nonsynonymous SNV I444V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 15 122741 chr20 3842057 3842057 C T rs144671697 MAVS Nonsynonymous SNV A124V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.742 122742 chr3 128292214 128292214 G A rs745326551 LINC01565 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 122743 chr3 128588632 128588632 C G rs4927923 LOC653712 0 0 0.109 0 0 0 0 32 0 0 4 0 6.195 122744 chr9 101980707 101980707 A G rs62562374 ALG2 Synonymous SNV L254L 0.003 0.008 0.01 1 3 3 0.003 3 0 0 1 0 Benign/Likely benign 0.519 122745 chr3 129290550 129290550 G A rs368846706 PLXND1 Nonsynonymous SNV T1072M 0 0 0.007 0 0 0 0 2 0 0 0 0 16.4 122746 chr21 30714768 30714768 A G BACH1 Nonsynonymous SNV T609A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 122747 chr8 76471229 76471229 G A HNF4G Synonymous SNV G360G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.48 122748 chr8 81599518 81599518 G A rs138322511 ZNF704 Synonymous SNV I167I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.6 122749 chr3 134264614 134264614 C G rs145706998 CEP63 Nonsynonymous SNV Q248E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 122750 chr9 111644431 111644431 C T rs61749203 ELP1 Nonsynonymous SNV A738T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Uncertain significance 22.2 122751 chr8 87540896 87540896 G A rs772586019 CPNE3 Synonymous SNV Q41Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.94 122752 chr3 135871132 135871132 A G rs745776943 MSL2 Synonymous SNV Y123Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 122753 chr9 112145798 112145798 C T rs10116806 PTPN3 Nonsynonymous SNV D431N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.98 122754 chr3 138219353 138219353 C T rs148908930 CEP70 Synonymous SNV K323K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 14.65 122755 chr3 142522824 142522824 T C rs200537637 TRPC1 Nonsynonymous SNV I554T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 122756 chr3 142681681 142681681 G A rs776505982 PAQR9 Synonymous SNV F166F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.42 122757 chr20 25062683 25062683 A G rs74315436 VSX1 Nonsynonymous SNV L17P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 24.3 122758 chr10 102020758 102020758 G C rs1004014640 CWF19L1 Nonsynonymous SNV A51G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 122759 chr21 43161673 43161673 G A RIPK4 Synonymous SNV G560G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.9 122760 chr7 14712638 14712638 A G DGKB Synonymous SNV C343C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.479 122761 chr3 15116371 15116371 C T rs144008665 RBSN Nonsynonymous SNV G425R 0.01 0.005 0.014 0 12 2 0 4 0 0 0 0 Uncertain significance 32 122762 chr7 149462136 149462136 C G rs762205958 ZNF467 Nonsynonymous SNV R485S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 122763 chr7 149489235 149489235 C T rs201620260 SSPO 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.61 122764 chr3 15297570 15297570 C T rs140402906 SH3BP5-AS1 0.009 0.003 0.017 1 10 1 0.003 5 0 0 0 0 9.403 122765 chr9 130928510 130928510 G T rs749514915 CIZ1 Nonsynonymous SNV P787Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.611 122766 chr7 149506147 149506147 G A rs150818519 SSPO 0.001 0.01 0.01 1 1 4 0.003 3 0 0 0 0 16.54 122767 chr10 103920626 103920626 C T rs564872700 NOLC1 Nonsynonymous SNV P516L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 122768 chr10 104136166 104136166 G A GBF1 Nonsynonymous SNV V1342M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 122769 chr10 104210611 104210611 G T rs773785584 C10orf95 Synonymous SNV A80A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 122770 chr9 119204789 119204789 G T rs767241739 ASTN2 Nonsynonymous SNV L233I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 122771 chr20 34828041 34828041 G A rs373216629 AAR2 Nonsynonymous SNV R84Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 122772 chr3 161147210 161147210 T C rs336552 LINC02067 0 0 0.054 0 0 0 0 16 0 0 0 0 13.54 122773 chr7 1484356 1484356 C T rs61736382 MICALL2 Synonymous SNV E450E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.223 122774 chr20 37357266 37357266 C A rs140172143 SLC32A1 Nonsynonymous SNV T521N 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.52 122775 chr20 40081419 40081419 G A rs145769981 CHD6 Nonsynonymous SNV A1095V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 122776 chr3 169557891 169557891 G A rs187788865 LRRC31 Nonsynonymous SNV P457L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 122777 chr9 125391012 125391012 G C rs41316978 OR1B1 Nonsynonymous SNV P268R 0.002 0.01 0.014 0 2 4 0 4 0 0 0 0 21.8 122778 chr9 104238341 104238341 C T rs199665312 PGAP4 Nonsynonymous SNV R345H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.2 122779 chr20 43547582 43547582 A C rs201302413 PABPC1L Nonsynonymous SNV E180A 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 16.52 122780 chr9 134394301 134394301 C T rs139415150 POMT1 Synonymous SNV H329H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.9 122781 chr7 155559168 155559168 T C rs201637397 RBM33 Nonsynonymous SNV M1065T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.151 122782 chr9 117138802 117138802 C T rs147861969 AKNA Nonsynonymous SNV V310I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.2 122783 chr10 115668161 115668161 A T rs202048071 NHLRC2 Nonsynonymous SNV S683C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.865 122784 chr9 111954616 111954616 C T rs199718023 EPB41L4B Nonsynonymous SNV G748D 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 21.2 122785 chr9 119124897 119124897 C T rs142931748 PAPPA Synonymous SNV C1458C 0.007 0.013 0.003 8 8 5 0.021 1 0 0 0 0 12 122786 chr20 44684856 44684856 G A rs142740233 SLC12A5 Nonsynonymous SNV R975H 0.001 0 0.003 6 1 0 0.015 1 0 0 0 0 Benign 13.46 122787 chr7 1513227 1513227 G A rs11774 INTS1 Synonymous SNV L1978L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.755 122788 chr20 45354829 45354829 C G rs79849424 SLC2A10 Nonsynonymous SNV A385G 0.003 0.003 0.017 2 3 1 0.005 5 0 0 0 0 Benign/Likely benign 2.986 122789 chr9 125239501 125239501 G T rs45579335 OR1J1 Stop gain C235X 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 36 122790 chr7 1522342 1522342 G A rs73275942 INTS1 Synonymous SNV A1181A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.375 122791 chr9 131107634 131107634 G A rs56224008 SLC27A4 Nonsynonymous SNV R121Q 0.01 0.016 0.003 2 12 6 0.005 1 0 0 0 0 5.467 122792 chr10 121429413 121429413 G A rs143752613 BAG3 Synonymous SNV P77P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.533 122793 chr10 121586951 121586951 G C rs150666811 INPP5F Nonsynonymous SNV A410P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.819 122794 chr3 187009176 187009176 G A rs16861893 LOC101929130 0 0 0.051 0 0 0 0 15 0 0 0 0 3.198 122795 chr9 139305140 139305140 C A rs149055087 PMPCA Nonsynonymous SNV A7E 0.015 0.013 0.014 8 18 5 0.021 4 0 0 0 0 15.43 122796 chr3 190573316 190573316 G A GMNC Nonsynonymous SNV T258I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.58 122797 chr7 1579855 1579855 C T rs150489206 MAFK Synonymous SNV D105D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 122798 chr7 1586636 1586636 C T rs375125067 TMEM184A Synonymous SNV K398K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.956 122799 chr3 191093375 191093375 G A rs376689351 CCDC50 Nonsynonymous SNV A325T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 122800 chr9 116823743 116823743 C T rs559236795 AMBP Nonsynonymous SNV V272I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 0.019 122801 chr9 139581729 139581729 G A rs753538170 AGPAT2 Synonymous SNV Y27Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.55 122802 chr9 125782663 125782663 A G rs41278246 RABGAP1 Synonymous SNV G573G 0.002 0.008 0.017 3 2 3 0.008 5 0 0 0 0 11.04 122803 chr10 124377798 124377798 C T DMBT1 Synonymous SNV H962H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.785 122804 chr9 133501775 133501775 G A rs199503537 FUBP3 Nonsynonymous SNV A334T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 122805 chr7 17885273 17885273 G A rs377055119 SNX13 Synonymous SNV C370C 0.005 0 0 0 6 0 0 0 0 0 0 0 8.892 122806 chr9 117129940 117129940 C G rs146163104 AKNA Synonymous SNV S418S 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 15.33 122807 chr10 125780752 125780752 - G rs767286601 CHST15 Frameshift insertion R456Pfs*50 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 122808 chr9 139935176 139935176 C T rs144332387 NPDC1 Synonymous SNV A190A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.51 122809 chr10 126715205 126715205 C T rs756801020 CTBP2 Nonsynonymous SNV R375Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 122810 chr10 128149995 128149995 G A rs375267781 C10orf90 Nonsynonymous SNV T565M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.102 122811 chr7 23180458 23180458 G A rs750816527 KLHL7 Synonymous SNV Q171Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 9.665 122812 chr3 196613101 196613101 G A rs34326043 SENP5 Nonsynonymous SNV G350D 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 25.8 122813 chr20 60749664 60749664 G A rs115792477 SS18L1 Synonymous SNV P376P 0.003 0 0.017 2 4 0 0.005 5 0 0 0 0 12.98 122814 chr3 196792234 196792234 G A rs146071094 DLG1 Synonymous SNV I657I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 122815 chr3 197239190 197239190 G A rs140269063 BDH1 Nonsynonymous SNV P203L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.82 122816 chr9 140343906 140343906 C G NSMF Nonsynonymous SNV L486F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 122817 chr7 25218810 25218810 T C rs140221642 C7orf31 Nonsynonymous SNV T40A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.66 122818 chr9 140450082 140450082 G A rs117223361 DPH7 Nonsynonymous SNV T189M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.8 122819 chr7 2581814 2581814 C T rs140903769 BRAT1 Nonsynonymous SNV V144I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.087 122820 chr3 27161337 27161337 G A rs34545563 NEK10 Nonsynonymous SNV P394L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 122821 chr7 27181694 27181694 G A rs775805363 HOXA5 Synonymous SNV G191G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.45 122822 chr7 295978 295978 C T rs141884969 FAM20C Synonymous SNV H412H 0.008 0.01 0.01 6 9 4 0.015 3 0 0 0 0 15.02 122823 chr7 30491931 30491931 G A rs762683820 NOD1 Nonsynonymous SNV R368W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 122824 chr3 37147007 37147007 T C rs778765141 LRRFIP2 Nonsynonymous SNV N131S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.279 122825 chr9 139326319 139326319 C T rs74880446 INPP5E Synonymous SNV P501P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.12 122826 chr9 139333403 139333403 C A rs78211353 INPP5E Nonsynonymous SNV G157W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.18 122827 chr20 62164999 62164999 G A rs200799038 PTK6 Nonsynonymous SNV T192M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 122828 chr9 139400299 139400299 C A rs150343794 NOTCH1 Nonsynonymous SNV R1350L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.173 122829 chr3 402027 402027 C G rs370077633 CHL1 Nonsynonymous SNV P409R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.46 122830 chr10 17142220 17142220 T C rs754326523 CUBN Nonsynonymous SNV T517A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 20.5 122831 chr9 140110727 140110727 C T rs147308483 NDOR1 Nonsynonymous SNV T510M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.627 122832 chr9 135224807 135224807 T C rs139681694 SETX Synonymous SNV T3T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 7.939 122833 chr9 140414486 140414486 C T rs758772855 PNPLA7 Nonsynonymous SNV A298T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 122834 chr7 4841614 4841614 C T rs117943885 RADIL Nonsynonymous SNV V838M 0.013 0.013 0.024 3 15 5 0.008 7 0 0 0 1 4.103 122835 chr9 13176248 13176248 T C rs139791147 MPDZ Nonsynonymous SNV I940V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 0.001 122836 chr7 48450123 48450123 C T rs200884155 ABCA13 Nonsynonymous SNV T4026M 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 33 122837 chr9 433973 433973 C T rs150165600 DOCK8 Synonymous SNV Y1528Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.38 122838 chr3 45780342 45780342 C G rs765178096 SACM1L Nonsynonymous SNV P455A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 122839 chr9 6007766 6007766 C A rs753735160 KIAA2026 Stop gain G8X 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 122840 chr3 46484946 46484946 G T LTF Stop gain Y503X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 122841 chr9 19346603 19346603 G A rs1046400679 DENND4C Nonsynonymous SNV R1230H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 34 122842 chr3 4730181 4730181 C T rs34635052 ITPR1 Synonymous SNV A1220A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.72 122843 chr7 48311684 48311684 C T rs373518979 ABCA13 Synonymous SNV L807L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.922 122844 chr9 740847 740847 G A rs114625699 KANK1 Synonymous SNV A947A 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 Benign 7.624 122845 chr3 48447180 48447180 C T rs752153932 PLXNB1 Nonsynonymous SNV R2085Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27 122846 chr9 32543285 32543285 T G rs61758062 TOPORS Nonsynonymous SNV Q348P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.2 122847 chr9 32550896 32550896 G C rs61758066 TOPORS Nonsynonymous SNV S25W 0.006 0.003 0.007 1 7 1 0.003 2 1 0 0 0 Benign/Likely benign 24.3 122848 chr10 35929317 35929317 C A rs536128254 FZD8 Synonymous SNV A347A 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 13.77 122849 chr10 395275 395275 G C DIP2C Synonymous SNV P1035P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 122850 chr9 35906560 35906601 CCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCC - rs770946300 HRCT1 P93_P106del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 122851 chr3 50334897 50334897 G T rs200040326 NAA80 Synonymous SNV R22R 0 0 0.007 0 0 0 0 2 0 0 0 0 8.806 122852 chr9 36199032 36199032 G A rs112232732 CLTA Synonymous SNV Q104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.69 122853 chr9 37441313 37441313 A G rs72739647 ZBTB5 Synonymous SNV F412F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.008 122854 chr9 141014823 141014823 C T rs199525864 CACNA1B Synonymous SNV G2079G 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.1 122855 chr3 53781346 53781346 A C rs1015372456 CACNA1D Nonsynonymous SNV Y1062S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 122856 chr7 72985560 72985560 G A rs150420769 TBL2 Synonymous SNV S114S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.876 122857 chr9 2039776 2039776 - CAGCAGCAG rs745316697 SMARCA2 Q238_P239insQQQ 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 122858 chr9 2104159 2104159 A G rs140418138 SMARCA2 Synonymous SNV L1094L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Likely benign 8.374 122859 chr7 878471 878471 G A rs76073621 SUN1 Synonymous SNV T38T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 16.33 122860 chr22 50719237 50719237 G A rs201776829 PLXNB2 Nonsynonymous SNV P1310L 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 12.12 122861 chr22 50956178 50956178 G A rs142921052 NCAPH2 Synonymous SNV S120S 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 11.93 122862 chr9 2718588 2718588 G A rs17656693 KCNV2 Synonymous SNV E283E 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 Benign 0.401 122863 chr3 9055510 9055510 G A rs778045781 SRGAP3 Synonymous SNV A586A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 122864 chr3 97583436 97583436 G A rs967011443 CRYBG3 Nonsynonymous SNV A198T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 122865 chr3 97887973 97887973 C G rs375248649 OR5H15 Nonsynonymous SNV L144V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 122866 chr22 18029251 18029251 C T rs142851999 CECR2 Nonsynonymous SNV S1261L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 23.7 122867 chr9 80046326 80046326 G A rs28395813 GNA14 Synonymous SNV F168F 0.004 0 0 4 5 0 0.01 0 0 0 0 0 4.425 122868 chr7 95165848 95165848 G A rs376518954 ASB4 Nonsynonymous SNV D360N 0 0.005 0 0 0 2 0 0 0 0 0 0 24 122869 chr7 98449170 98449170 C T rs141333258 TMEM130 Nonsynonymous SNV V192M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 122870 chr9 88937840 88937840 T A TUT7 Nonsynonymous SNV D819V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.14 122871 chrX 150911796 150911796 G A rs151204211 CNGA2 Nonsynonymous SNV R274H 0.008 0.013 0 0 9 5 0 0 3 2 0 0 23.9 122872 chr9 91605937 91605937 G C rs140930200 C9orf47 Nonsynonymous SNV M9I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.031 122873 chr10 64974824 64974824 C T rs200644675 JMJD1C Nonsynonymous SNV R149Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 27.6 122874 chr9 95237024 95237024 - TCCTCCTCATCATCA ASPN D50_E51insDDDEE 0.002 0.003 0 0 2 1 0 0 0 0 0 0 122875 chr22 19754158 19754158 C T TBX1 Nonsynonymous SNV P419L 0 0 0 2 0 0 0.005 0 0 0 0 0 28.1 122876 chr22 19766895 19766895 G A rs375380772 TBX1 Nonsynonymous SNV V388M 0 0 0 2 0 0 0.005 0 0 0 0 0 12.24 122877 chr7 98507766 98507766 G A rs143892218 TRRAP Nonsynonymous SNV V480M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.54 122878 chr9 15211342 15211342 T C rs143424497 TTC39B Nonsynonymous SNV Q110R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.5 122879 chr4 10542180 10542180 C T rs374871726 CLNK Synonymous SNV P180P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 122880 chrX 21875183 21875183 A G rs375556100 YY2 Nonsynonymous SNV N194S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.014 122881 chrX 43603625 43603625 G A rs377306596 MAOA Synonymous SNV A483A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.539 122882 chr10 75258901 75258901 C G rs61761603 USP54 Nonsynonymous SNV G1452A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.1 122883 chr9 27220094 27220094 C T rs2273718 TEK Synonymous SNV L903L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 13.92 122884 chrX 48689823 48689823 C G rs781807803 PCSK1N Nonsynonymous SNV E210D 0.002 0 0 0 2 0 0 0 1 0 0 0 23.8 122885 chr9 32487521 32487521 T C rs2274863 DDX58 Synonymous SNV T441T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 1.212 122886 chr9 32492529 32492529 G A rs55789327 DDX58 Nonsynonymous SNV S144F 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.932 122887 chr8 120233968 120233968 G A rs2303398 MAL2 Nonsynonymous SNV A92T 0.009 0.003 0.017 1 11 1 0.003 5 0 0 0 0 14.42 122888 chrX 77394353 77394353 C T TAF9B Synonymous SNV L40L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.87 122889 chr22 30775780 30775780 T C RNF215 Nonsynonymous SNV K344R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 122890 chrX 70596977 70596977 A C TAF1 Nonsynonymous SNV Q217P 0.004 0 0 0 5 0 0 0 2 0 0 0 11.64 122891 chr22 31363813 31363813 T C rs73156742 MORC2 Synonymous SNV T21T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 21.7 122892 chr9 35906565 35906565 G A rs7852213 HRCT1 Nonsynonymous SNV R94H 0.013 0.016 0 3 15 6 0.008 0 0 0 0 0 8.84 122893 chrX 153040516 153040516 G A rs55698753 PLXNB3 Synonymous SNV T1371T 0.006 0.01 0 8 7 4 0.021 0 3 1 0 3 Benign 8.877 122894 chrX 153208409 153208409 T C RENBP Synonymous SNV L195L 0.004 0.003 0 0 5 1 0 0 2 0 0 0 0.043 122895 chrX 153539290 153539290 A G rs146510737 TKTL1 Nonsynonymous SNV I96V 0.006 0.005 0 0 7 2 0 0 3 0 0 0 6.891 122896 chrX 9912844 9912844 T C rs759757462 SHROOM2 Nonsynonymous SNV I327T 0.003 0 0 0 3 0 0 0 1 0 0 0 25.3 122897 chr9 95772467 95772467 G A rs74763709 LOC101927954 0.005 0.01 0.007 7 6 4 0.018 2 0 0 0 0 3.26 122898 chrX 17394393 17394393 C T rs398124610 NHS Synonymous SNV L171L 0.012 0.013 0 2 14 5 0.005 0 3 2 0 1 Conflicting interpretations of pathogenicity 14.24 122899 chr4 143007388 143007388 T C rs562114290 INPP4B Nonsynonymous SNV Q799R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 122900 chr10 100177429 100177429 G A rs138539496 HPS1 Synonymous SNV Y545Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.149 122901 chr8 13357194 13357194 A G rs749695365 DLC1 Synonymous SNV N129N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 122902 chr10 102743494 102743494 G A rs41291464 SEMA4G Nonsynonymous SNV R713H 0.014 0.008 0.037 10 17 3 0.026 11 1 0 0 0 14.61 122903 chr4 148827795 148827795 C T rs61748165 ARHGAP10 Synonymous SNV G347G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 18.3 122904 chr9 97690607 97690607 G C rs953357258 LOC101928119 0 0.003 0 0 0 1 0 0 0 0 0 0 8.455 122905 chr4 149357048 149357048 A C NR3C2 Nonsynonymous SNV L322R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 122906 chr4 15004828 15004828 G C rs761314238 CPEB2 Nonsynonymous SNV Q177H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 122907 chr9 99250427 99250427 C T HABP4 Synonymous SNV D352D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.26 122908 chrX 100105140 100105140 C T rs35404864 NOX1 Nonsynonymous SNV R341K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 15.5 122909 chrX 129148407 129148407 T C rs113450274 BCORL1 Synonymous SNV L553L 0.005 0.008 0.007 0 6 3 0 2 1 0 1 0 Benign 0.001 122910 chr4 154669807 154669807 C T rs569808365 RNF175 Nonsynonymous SNV R79Q 0 0 0.007 0 0 0 0 2 0 0 0 0 19.21 122911 chr4 155158183 155158183 C T DCHS2 Nonsynonymous SNV D2541N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 122912 chr10 105349337 105349337 C T rs759066315 NEURL1 Nonsynonymous SNV S469L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 122913 chrX 106312561 106312561 C T rs769522106 RBM41 Synonymous SNV Q333Q 0.004 0.005 0.003 0 5 2 0 1 1 0 0 0 14.51 122914 chr9 77400933 77400933 C T rs140835112 TRPM6 Nonsynonymous SNV V921I 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 Uncertain significance 7.004 122915 chrX 47444372 47444372 C T TIMP1 Synonymous SNV N53N 0.003 0 0 0 4 0 0 0 1 0 0 0 8.696 122916 chr4 1656888 1656888 G T rs182903545 FAM53A Synonymous SNV G233G 0.005 0.003 0.007 3 6 1 0.008 2 1 0 0 0 Benign 0.039 122917 chr22 41647049 41647049 T C rs200191945 RANGAP1 Nonsynonymous SNV D482G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 122918 chrX 56295821 56295821 C T KLF8 Synonymous SNV D214D 0.005 0 0 0 6 0 0 0 2 0 0 0 Likely benign 10.69 122919 chrX 151283806 151283806 G A rs140955654 MAGEA10-MAGEA5, MAGEA5 Synonymous SNV S69S 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 1.843 122920 chr10 115610028 115610028 T C DCLRE1A Nonsynonymous SNV N279S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 122921 chrX 71349791 71349791 G A rs201122770 RTL5 Nonsynonymous SNV R534C 0.003 0 0.017 0 3 0 0 5 1 0 2 0 14.49 122922 chr9 91953436 91953436 A G rs1044521907 SECISBP2 Nonsynonymous SNV K384E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.5 122923 chrX 71425209 71425209 G A rs148656966 ERCC6L Synonymous SNV G1136G 0.003 0 0.017 0 3 0 0 5 1 0 2 0 9.883 122924 chr4 175429228 175429228 G A HPGD Synonymous SNV L176L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.134 122925 chr9 95610261 95610261 C T rs146178197 ZNF484 Nonsynonymous SNV E234K 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 8.532 122926 chr4 18023308 18023308 - AGCGGC LCORL A22_Q23insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 122927 chr4 1806629 1806629 C T rs61735104 FGFR3 Nonsynonymous SNV P337S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 23.2 122928 chr22 45312474 45312474 C T rs138308961 PHF21B Nonsynonymous SNV V72I 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 0.676 122929 chr10 123503317 123503317 T C rs544531894 ATE1 Nonsynonymous SNV I383V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.931 122930 chr22 46685316 46685316 G A rs61737824 TTC38 Nonsynonymous SNV C367Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 122931 chrX 148585765 148585765 A G rs141088021 IDS Synonymous SNV Y54Y 0.003 0.005 0 6 3 2 0.015 0 0 0 0 3 Benign 1.614 122932 chr22 46760109 46760109 G A rs144722111 CELSR1 Nonsynonymous SNV T2940M 0 0 0 3 0 0 0.008 0 0 0 0 0 5.307 122933 chr4 187524525 187524525 C T rs35670235 FAT1 Nonsynonymous SNV V3719M 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 23 122934 chr8 145659604 145659604 G A rs569596561 TONSL Synonymous SNV S1048S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Likely benign 11.15 122935 chr22 50882356 50882356 G C PPP6R2 Nonsynonymous SNV A855P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.26 122936 chr4 2306282 2306282 G A rs371205389 ZFYVE28 Synonymous SNV Y565Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.486 122937 chr8 17478614 17478614 A G rs34445293 PDGFRL Synonymous SNV A136A 0.007 0.01 0.027 4 8 4 0.01 8 0 0 0 1 0.365 122938 chr8 17500162 17500162 T A rs35346456 PDGFRL Nonsynonymous SNV I327N 0.005 0.008 0.02 1 6 3 0.003 6 0 0 0 0 32 122939 chr8 17510766 17510766 C G rs61733705 MTUS1 Nonsynonymous SNV E177Q 0.003 0.008 0.017 1 3 3 0.003 5 0 0 0 0 23.1 122940 chr8 17513399 17513399 C T rs61733707 MTUS1 Synonymous SNV E99E 0.005 0.01 0.02 2 6 4 0.005 6 0 0 0 0 14.41 122941 chr11 108117787 108117787 C T rs28904919 ATM Nonsynonymous SNV S333F 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 122942 chrX 17086548 17086548 T C rs181282465 REPS2 Synonymous SNV A410A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.964 122943 chrX 31462642 31462642 G A rs780747093 DMD Nonsynonymous SNV L285F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 122944 chrX 32456469 32456469 T C rs765256995 DMD Synonymous SNV P1312P 0.005 0.005 0 1 6 2 0.003 0 1 0 0 0 Benign 3.656 122945 chrX 34148921 34148921 T C rs201826329 FAM47A Nonsynonymous SNV H492R 0.003 0.018 0 0 4 7 0 0 1 3 0 0 0.002 122946 chr10 14897929 14897929 A T rs116239900 HSPA14 Nonsynonymous SNV D327V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 122947 chr8 21965372 21965372 C T rs34725565 NUDT18 Synonymous SNV A137A 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 9.858 122948 chr1 9794172 9794172 G A rs139721760 CLSTN1 Synonymous SNV I694I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.47 122949 chr1 10386225 10386225 C G KIF1B Nonsynonymous SNV P865R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.6 122950 chr10 118424386 118424386 T C rs782347608 C10orf82 Nonsynonymous SNV K116R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 122951 chrX 64732687 64732687 G A rs368677383 LAS1L Nonsynonymous SNV H666Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.4 122952 chrX 31496426 31496426 T C rs1800278 DMD Nonsynonymous SNV N183D 0.003 0.003 0 5 3 1 0.013 0 1 0 0 2 Benign/Likely benign 14.98 122953 chrX 31496431 31496431 T A rs41305353 DMD Nonsynonymous SNV E181V 0.003 0.003 0 5 3 1 0.013 0 1 0 0 2 Benign/Likely benign 26.9 122954 chr10 23729508 23729508 A T rs148315007 OTUD1 Synonymous SNV A374A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.228 122955 chrX 32509577 32509577 G A DMD Synonymous SNV I805I 0 0 0 3 0 0 0.008 0 0 0 0 1 13.01 122956 chrX 66765159 66765188 GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA - AR Q71_Q80del 0.001 0 0.007 0 1 0 0 2 0 0 1 0 122957 chrX 66765183 66765188 GCAGCA - AR Q79_Q80del 0.001 0 0 0 1 0 0 0 0 0 0 0 122958 chr8 27315972 27315972 C T rs145477508 PTK2B Synonymous SNV D950D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.12 122959 chr4 57248714 57248714 G A rs145859029 AASDH Nonsynonymous SNV P94S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.255 122960 chrX 48664850 48664850 C T rs73209760 HDAC6 Synonymous SNV Y171Y 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 10.12 122961 chrX 71830942 71830942 C T rs139803629 PHKA1 Nonsynonymous SNV R762H 0.006 0 0 1 7 0 0.003 0 2 0 0 0 Benign/Likely benign 25.8 122962 chr8 28627484 28627484 G A rs371109327 INTS9 Synonymous SNV D553D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.061 122963 chrX 86880740 86880740 C T KLHL4 Nonsynonymous SNV P423L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25.1 122964 chr4 65180463 65180463 T C rs143746083 TECRL Nonsynonymous SNV T152A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.912 122965 chr10 128798496 128798496 G A rs140885933 DOCK1 Nonsynonymous SNV V304M 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 27.8 122966 chr10 100157172 100157172 C T rs143664406 PYROXD2 Synonymous SNV A185A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 122967 chr8 3141775 3141775 C G rs149028484 CSMD1 Nonsynonymous SNV W1348C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 31 122968 chr10 129907545 129907545 A C rs754719580 MKI67 Synonymous SNV S493S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 122969 chr10 133106536 133106536 G C rs41282900 TCERG1L Nonsynonymous SNV S203C 0.01 0.005 0.003 9 12 2 0.023 1 0 0 0 1 Likely benign 12.31 122970 chr10 103825330 103825330 A G rs139591041 HPS6 Synonymous SNV R33R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.245 122971 chr10 103920344 103920344 G T rs11191224 NOLC1 Nonsynonymous SNV G422V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.49 122972 chr8 42401726 42401726 C T rs369347069 SMIM19 Synonymous SNV F37F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.32 122973 chr4 72897699 72897699 G C rs201446563 NPFFR2 Synonymous SNV A27A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.691 122974 chr8 43152431 43152431 C T rs73677913 POTEA Synonymous SNV A139A 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 5.811 122975 chr8 43211950 43211950 A C rs73677971 POTEA Nonsynonymous SNV H424P 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 1.125 122976 chrX 118540575 118540575 C T SLC25A43 Nonsynonymous SNV S143L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 122977 chr8 53076592 53076592 G T rs149497456 ST18 Nonsynonymous SNV Q452K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 122978 chr4 75675871 75675871 C T rs370636573 BTC Nonsynonymous SNV G114R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 28.7 122979 chr10 134726223 134726223 C T rs569947083 CFAP46 Nonsynonymous SNV R812Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 122980 chr10 1068599 1068599 C T rs199805419 IDI2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.405 122981 chrX 136112956 136112956 G A rs73566014 GPR101 Nonsynonymous SNV T293I 0.005 0 0 0 6 0 0 0 1 0 0 0 0.002 122982 chr8 68204202 68204202 C A rs61753695 ARFGEF1 Nonsynonymous SNV D266Y 0.021 0.023 0.007 7 25 9 0.018 2 0 1 0 0 Likely benign 23.3 122983 chr1 21031071 21031071 C T rs202087220 KIF17 Nonsynonymous SNV R331Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 122984 chr10 116245066 116245066 G A rs375779934 ABLIM1 Nonsynonymous SNV P56L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.5 122985 chr10 5567387 5567387 G T rs776584205 CALML3 Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.881 122986 chr8 75272450 75272450 C A rs147295250 GDAP1 Nonsynonymous SNV S21Y 0.003 0.013 0 0 4 5 0 0 0 0 0 0 Uncertain significance 26 122987 chr10 5781681 5781681 G A rs754879023 TASOR2 Synonymous SNV A435A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.54 122988 chr10 101717018 101717018 T A rs76352978 DNMBP-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.641 122989 chr8 82630443 82630443 C T rs138316789 ZFAND1 Synonymous SNV V24V 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 11.85 122990 chr10 118434550 118434550 C T rs782371497 HSPA12A Synonymous SNV P590P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.338 122991 chr4 88401620 88401620 A G rs200337847 SPARCL1 Nonsynonymous SNV I449T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 122992 chr11 128350261 128350261 T C rs34050831 ETS1 Synonymous SNV S56S 0.014 0.016 0.01 5 16 6 0.013 3 1 0 0 0 5.878 122993 chr10 26385581 26385581 A G rs775168365 MYO3A Synonymous SNV Q582Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 7.015 122994 chr10 121212266 121212266 C T rs368864312 GRK5 Synonymous SNV D496D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.81 122995 chr8 95861739 95861739 G A rs148690736 INTS8 Nonsynonymous SNV G437E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 12.07 122996 chr10 105048217 105048217 A C rs34440112 INA Nonsynonymous SNV I431L 0.007 0.01 0.017 1 8 4 0.003 5 0 0 1 0 13.15 122997 chr10 105203785 105203785 C T rs41302735 PDCD11 Synonymous SNV R1746R 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 20.4 122998 chr10 105361911 105361911 G A rs79061932 SH3PXD2A Nonsynonymous SNV R903C 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Likely benign 27.5 122999 chr1 27941404 27941404 C T FGR Nonsynonymous SNV G351D 0 0.003 0 0 0 1 0 0 0 0 0 0 31 123000 chr10 128150096 128150096 G T rs12412320 C10orf90 Nonsynonymous SNV D531E 0.007 0.003 0.01 0 8 1 0 3 0 0 1 0 6.368 123001 chr9 104433255 104433255 C T rs34755188 GRIN3A Nonsynonymous SNV R480H 0.006 0.013 0.003 5 7 5 0.013 1 0 0 0 0 33 123002 chr10 13325695 13325695 G A rs104894178 PHYH Nonsynonymous SNV R187W 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 29.3 123003 chr1 34037185 34037185 C T rs79391729 CSMD2 Nonsynonymous SNV R2635H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.2 123004 chr11 18754210 18754210 C T rs148928702 PTPN5 Nonsynonymous SNV D396N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 123005 chr10 116931015 116931015 A G rs782385876 ATRNL1 Nonsynonymous SNV Y438C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.8 123006 chr10 134188640 134188640 C T rs138390679 LRRC27 Nonsynonymous SNV A496V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 123007 chr10 118351353 118351353 G C PNLIPRP1 Nonsynonymous SNV R40S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 123008 chr10 85997421 85997421 G A rs143467084 LRIT1 Synonymous SNV P48P 0.004 0.008 0.01 3 5 3 0.008 3 0 0 0 0 11.86 123009 chr11 236094 236094 A G rs143632880 SIRT3 Nonsynonymous SNV F79L 0.013 0.003 0.003 3 15 1 0.008 1 0 0 0 0 Benign 6.017 123010 chr5 134573448 134573448 G A rs62383169 C5orf66-AS2 0 0 0.092 0 0 0 0 27 0 0 2 0 6.875 123011 chr5 137144354 137144354 A C NPY6R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 123012 chr10 16918967 16918967 G A rs143741363 CUBN Nonsynonymous SNV P3012L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.9 123013 chr10 124345651 124345651 G A rs374635240 DMBT1 Nonsynonymous SNV R502Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.374 123014 chr10 124396773 124396773 C T rs368472383 DMBT1 Nonsynonymous SNV T1539M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 123015 chr10 5773162 5773162 A C TASOR2 Nonsynonymous SNV K400N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 123016 chr11 284606 284606 T A rs199625959 NLRP6 Nonsynonymous SNV V834D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.575 123017 chr9 116857341 116857341 G A rs757380683 KIF12 Stop gain R223X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 123018 chr5 137904691 137904691 C G HSPA9 Nonsynonymous SNV W153S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 123019 chr10 124749878 124749878 A C rs759581703 PSTK Nonsynonymous SNV K356Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 20.6 123020 chr5 138210134 138210134 C T rs761080588 LRRTM2 Nonsynonymous SNV R39H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 123021 chr11 32636356 32636356 G A rs201405331 CCDC73 Nonsynonymous SNV S503L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 1.094 123022 chr9 117386706 117386706 C T rs34482578 TMEM268 Synonymous SNV A61A 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 16.24 123023 chr10 99118716 99118716 G A rs143870774 RRP12 Nonsynonymous SNV A1131V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 22.4 123024 chr10 22498287 22498287 A T rs766493721 EBLN1 Nonsynonymous SNV F209Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.128 123025 chr9 124521260 124521260 G A rs3747851 DAB2IP Synonymous SNV A76A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.54 123026 chr9 124544697 124544697 C T rs117152313 DAB2IP Nonsynonymous SNV R1040C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21 123027 chr10 129903853 129903853 T G rs146580693 MKI67 Nonsynonymous SNV Q1724P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 23.7 123028 chr11 3392811 3392811 G A rs72848292 ZNF195 Synonymous SNV S42S 0.01 0.008 0.01 5 12 3 0.013 3 0 0 0 0 12.88 123029 chr5 140773812 140773812 G A rs144796076 PCDHGA8 Nonsynonymous SNV D478N 0.005 0.016 0.02 1 6 6 0.003 6 0 0 0 0 25.4 123030 chr10 134219132 134219132 G C PWWP2B Synonymous SNV G376G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 123031 chr11 1016912 1016912 G A rs779326004 MUC6 Synonymous SNV P1963P 0.006 0.003 0.034 1 7 1 0.003 10 0 0 0 0 3.275 123032 chr11 43819914 43819914 G T rs374709974 HSD17B12 Nonsynonymous SNV A110S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 123033 chr9 125613665 125613665 - TCCCTATCAGGTTTAGTATC RC3H2 Frameshift insertion D999Efs*11 0.001 0.003 0 0 1 1 0 0 0 0 0 0 123034 chr1 50885280 50885280 G A rs764241018 DMRTA2 Nonsynonymous SNV S229L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.1 123035 chr10 135089024 135089024 T C ADAM8 Synonymous SNV P38P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.047 123036 chr11 45931647 45931647 T G rs79435202 PEX16 Nonsynonymous SNV H345P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 2.25 123037 chr10 135093394 135093394 T C rs766195152 TUBGCP2 Nonsynonymous SNV N732S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 123038 chr10 32575674 32575674 C T rs62619977 EPC1 Nonsynonymous SNV V447I 0.008 0 0 0 9 0 0 0 0 0 0 0 21.9 123039 chr11 46837752 46837752 A G rs150881731 CKAP5 Nonsynonymous SNV L152S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 27.2 123040 chr10 15151774 15151774 T C NMT2 Nonsynonymous SNV K468R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 123041 chr10 15634232 15634232 T C rs760125281 ITGA8 Synonymous SNV Q746Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.107 123042 chr10 16946101 16946101 C G CUBN Synonymous SNV G2642G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.489 123043 chr9 132402834 132402834 T C rs148420909 ASB6 Nonsynonymous SNV N94S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 22.5 123044 chr5 150675801 150675801 C T rs72794183 SLC36A3 Nonsynonymous SNV G83E 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 32 123045 chr9 131802778 131802778 G T rs193049423 MIGA2 Nonsynonymous SNV V33L 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 5.504 123046 chr10 48389071 48389071 C T rs202017297 RBP3 Nonsynonymous SNV G603S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 123047 chr1 63027332 63027332 C T DOCK7 Nonsynonymous SNV V719I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.5 123048 chr9 132854643 132854643 T C rs34227818 GPR107 Synonymous SNV H282H 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 4.182 123049 chr10 22048111 22048111 C T rs188868921 DNAJC1 Synonymous SNV P528P 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 11.72 123050 chr9 134397464 134397464 C T rs12115566 POMT1 Nonsynonymous SNV A467V 0.003 0.01 0.014 3 3 4 0.008 4 0 1 0 0 Benign/Likely benign 11.42 123051 chr5 156890257 156890257 C T rs374829524 NIPAL4 Synonymous SNV L127L 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 Uncertain significance 12.51 123052 chr10 53458650 53458650 - CCAGGG CSTF2T G220_L221insPG 0.001 0 0 0 1 0 0 0 0 0 0 0 123053 chr1 74937132 74937132 C T rs945614658 LRRC53 Nonsynonymous SNV R725K 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 24.5 123054 chr9 136313812 136313812 C T ADAMTS13 Nonsynonymous SNV R942W 0.008 0.003 0 0 9 1 0 0 0 0 0 0 27.7 123055 chr10 32580166 32580166 G A rs770502822 EPC1 Synonymous SNV P300P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 123056 chr10 6010864 6010864 G T IL15RA Nonsynonymous SNV A74E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.56 123057 chr11 107944148 107944148 C T CUL5 Nonsynonymous SNV T346I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 123058 chr5 168096815 168096815 C T rs754778570 SLIT3 Nonsynonymous SNV G1444S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 123059 chr5 168690664 168690664 C G rs140379047 MIR585 0 0 0.024 0 0 0 0 7 0 0 0 0 1.955 123060 chr5 170336681 170336681 C G rs139178386 RANBP17 Nonsynonymous SNV P169R 0.002 0.005 0.007 4 2 2 0.01 2 0 0 0 0 27.6 123061 chr5 172196752 172196752 A G rs34471628 DUSP1 Nonsynonymous SNV Y187H 0.011 0.005 0.031 4 13 2 0.01 9 0 0 0 0 15.58 123062 chr5 172197790 172197790 C T rs34013988 DUSP1 Nonsynonymous SNV A56T 0.011 0.005 0.027 4 13 2 0.01 8 0 0 0 0 23.5 123063 chr5 175110992 175110992 C T rs199745107 HRH2 Synonymous SNV T252T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 123064 chr5 175957733 175957733 C T rs143517757 RNF44 Synonymous SNV R217R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.493 123065 chr5 176013823 176013823 C T rs116138699 CDHR2 Nonsynonymous SNV R946W 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 25.1 123066 chr5 176450210 176450210 G A ZNF346 Synonymous SNV S75S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.066 123067 chr10 72015117 72015117 G A rs368020444 NPFFR1 Stop gain Q297X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 123068 chr5 176931248 176931248 C T rs140236925 DOK3 Synonymous SNV T353T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.074 123069 chr5 177036568 177036568 G A rs751011692 B4GALT7 Nonsynonymous SNV G286S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 32 123070 chr9 139368580 139368580 C T rs199822604 SEC16A Nonsynonymous SNV R1163Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.5 123071 chr9 139395223 139395223 G A rs748200129 NOTCH1 Synonymous SNV D1905D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 4.167 123072 chr9 139400039 139400039 C T rs780500109 NOTCH1 Nonsynonymous SNV G1437R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.8 123073 chr5 178506381 178506381 T C ZNF354C Synonymous SNV T316T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.425 123074 chr9 139728222 139728224 AGA - rs776542500 RABL6 E254del 0.004 0.005 0 0 5 2 0 0 0 0 0 0 123075 chr5 179248119 179248119 C T rs767340839 SQSTM1 Synonymous SNV G61G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 20.7 123076 chr1 101190418 101190418 C T rs145575133 VCAM1 Synonymous SNV N300N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.23 123077 chr10 73571179 73571179 T A rs770888523 CDH23 Nonsynonymous SNV M822K 0.001 0 0 0 1 0 0 0 0 0 0 0 22 123078 chr10 50828626 50828626 G A rs8178989 CHAT Nonsynonymous SNV R104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.1 123079 chr9 139935366 139935366 C T rs368058776 NPDC1 Synonymous SNV T152T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.75 123080 chr10 74899168 74899168 G A rs34865820 ECD Synonymous SNV S397S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.54 123081 chr5 180047919 180047919 G A rs986151831 FLT4 Synonymous SNV N752N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 123082 chr9 140003040 140003040 C T rs200428341 MAN1B1 Synonymous SNV A699A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.73 123083 chr1 109735301 109735301 G A rs773983197 KIAA1324 Synonymous SNV V246V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 123084 chr5 180651545 180651545 A G rs370048125 TRIM41 Synonymous SNV T182T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.962 123085 chr1 109801496 109801496 C T rs775157484 CELSR2 Synonymous SNV S1251S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.37 123086 chr5 24509923 24509923 G A rs1010395181 CDH10 Synonymous SNV L336L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.254 123087 chr9 18777304 18777304 C T rs183130162 ADAMTSL1 Nonsynonymous SNV S1026F 0.005 0.005 0.017 3 6 2 0.008 5 0 0 0 0 23.5 123088 chr10 76854463 76854463 G C rs16931996 DUSP13 Nonsynonymous SNV R240G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 26.7 123089 chr11 55371071 55371071 G A rs201361433 OR4C11 Nonsynonymous SNV P260L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.158 123090 chr5 33944814 33944814 G T rs748872789 SLC45A2 Nonsynonymous SNV A511E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 123091 chr10 79579212 79579212 G A rs541251764 DLG5 Nonsynonymous SNV R1180W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 123092 chr10 69281701 69281701 A T rs61749223 CTNNA3 Nonsynonymous SNV S160T 0.014 0.008 0.007 7 16 3 0.018 2 0 0 0 1 Benign 19.22 123093 chr11 123493266 123493266 C G rs368223750 GRAMD1B Nonsynonymous SNV T687R 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 17.08 123094 chr10 61005236 61005236 A C rs753724764 PHYHIPL Nonsynonymous SNV D313A 0.003 0.003 0.003 6 4 1 0.015 1 0 0 0 0 11.25 123095 chr11 55587612 55587612 T C rs148481353 OR5D18 Synonymous SNV F169F 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.029 123096 chr5 38950729 38950729 T C rs142010480 RICTOR Nonsynonymous SNV D1074G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.31 123097 chr9 20948903 20948903 A C FOCAD Synonymous SNV V1284V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.286 123098 chr11 110007834 110007834 T C rs78240010 ZC3H12C Synonymous SNV P156P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 123099 chr11 111175653 111175653 C T rs141512152 COLCA2 Nonsynonymous SNV R35W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.759 123100 chr5 43446338 43446338 G A rs754947998 TMEM267 Nonsynonymous SNV R212C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 123101 chr5 475408 475408 T G rs11745923 SLC9A3-AS1 0 0 0.034 0 0 0 0 10 0 0 4 0 7.135 123102 chr11 1251819 1251819 G A rs11605239 MUC5B Nonsynonymous SNV G487S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.74 123103 chr1 145532162 145532162 G C rs373985563 ITGA10 Nonsynonymous SNV R126T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 123104 chr9 27284948 27284948 A G rs776993352 EQTN Nonsynonymous SNV Y191H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 123105 chr11 113288849 113288849 C T rs199765712 DRD2 Nonsynonymous SNV E99K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 123106 chr10 73545490 73545490 A C CDH23 Synonymous SNV R1939R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.118 123107 chr5 54327265 54327265 G A rs1046012948 GZMK Nonsynonymous SNV G146E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.2 123108 chr1 150131390 150131390 A T PLEKHO1 Nonsynonymous SNV N129I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.234 123109 chr9 712526 712526 A G rs141234076 KANK1 Nonsynonymous SNV E429G 0.003 0 0 5 4 0 0.013 0 0 0 0 0 Likely benign 0.163 123110 chr9 35075064 35075064 C T rs1003595944 FANCG Nonsynonymous SNV C499Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.16 123111 chr10 97386508 97386508 T C ALDH18A1 Synonymous SNV E156E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 123112 chr11 128857977 128857977 A G rs774903664 ARHGAP32 Synonymous SNV Y50Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.021 123113 chr1 151861840 151861840 A G rs780536262 THEM4 Nonsynonymous SNV L99P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.263 123114 chr9 35906560 35906560 C A rs138582531 HRCT1 Nonsynonymous SNV H92Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.615 123115 chr1 152079906 152079906 A G rs368778419 TCHH Synonymous SNV P1929P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.792 123116 chr11 118764334 118764334 T C rs760921682 CXCR5 Synonymous SNV Y27Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 123117 chr10 99655072 99655072 G A rs115126187 CRTAC1 Synonymous SNV A472A 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 12.45 123118 chr9 5921608 5921608 T A KIAA2026 Nonsynonymous SNV D1463V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.9 123119 chr5 71756986 71756986 G A rs200485226 ZNF366 Nonsynonymous SNV P113L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.801 123120 chr11 17629932 17629932 C T rs559512010 OTOG Nonsynonymous SNV R1428W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.99 123121 chr9 86238111 86238111 G C rs755653331 IDNK Nonsynonymous SNV V9L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 123122 chr9 78938027 78938027 T C rs770195863 PCSK5 Nonsynonymous SNV F1361L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.6 123123 chr1 155023180 155023180 G A rs369584482 DCST1 Nonsynonymous SNV E628K 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 11.22 123124 chr1 155260382 155260382 C T rs61755431 PKLR Nonsynonymous SNV R569Q 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Uncertain significance 33 123125 chr11 123848063 123848063 G A rs764689709 OR10S1 Synonymous SNV A112A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.67 123126 chr11 56409706 56409706 A G rs141065914 OR5AP2 Synonymous SNV S70S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.866 123127 chr1 156785830 156785830 G A rs369870153 SH2D2A Nonsynonymous SNV R3C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.99 123128 chr9 91690036 91690036 C T rs34634831 SHC3 Synonymous SNV P239P 0.008 0.016 0.01 4 9 6 0.01 3 0 0 0 0 6.43 123129 chr1 156899169 156899169 C T rs369241615 LRRC71 Nonsynonymous SNV T365M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.912 123130 chr11 57081101 57081101 G A rs112591435 TNKS1BP1 Nonsynonymous SNV P354L 0.004 0 0 0 5 0 0 0 0 0 0 0 6.651 123131 chr11 1016776 1016776 C G rs33988517 MUC6 Nonsynonymous SNV V2009L 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 6.984 123132 chr11 102668029 102668029 G A rs146887036 MMP1 Nonsynonymous SNV T37I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 123133 chr5 94988022 94988022 C T rs201059797 RFESD Nonsynonymous SNV T16I 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 12.1 123134 chr11 58956718 58956718 G A rs376061897 DTX4 Nonsynonymous SNV V255I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23 123135 chrX 106843986 106843986 C T FRMPD3 Nonsynonymous SNV T939I 0 0.005 0 0 0 2 0 0 0 1 0 0 17.35 123136 chr11 58979232 58979232 G A rs771098126 MPEG1 Synonymous SNV C369C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.061 123137 chrX 13618137 13618137 A G rs6629276 EGFL6 Synonymous SNV R108R 0.008 0 0.003 3 9 0 0.008 1 2 0 0 1 Benign 0.369 123138 chr1 161168147 161168147 T C rs61747495 ADAMTS4 Nonsynonymous SNV T91A 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 3.656 123139 chrX 13618164 13618164 G A rs6633092 EGFL6 Synonymous SNV K117K 0.008 0 0.003 3 9 0 0.008 1 2 0 0 1 Benign 12.35 123140 chr11 101771243 101771243 A C rs17854572 ANGPTL5 Synonymous SNV T193T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 123141 chr6 100838579 100838579 G A rs41318041 SIM1 Synonymous SNV T653T 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 Benign 1.473 123142 chr1 162824862 162824862 C A rs184192552 CCDC190 Nonsynonymous SNV S201I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.91 123143 chr11 3680974 3680974 T G rs141826088 ART1 Stop gain Y75X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 123144 chr6 10529788 10529788 T C rs564014638 GCNT2 Nonsynonymous SNV I215T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 123145 chr1 167666583 167666583 G A rs142342977 RCSD1 Nonsynonymous SNV R187K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.8 123146 chr11 16362582 16362582 G T SOX6 Nonsynonymous SNV S71R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 19.94 123147 chr6 108029115 108029115 G A rs61742586 SCML4 Synonymous SNV A116A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.019 123148 chr6 108067915 108067915 G A rs41287522 SCML4 Synonymous SNV G97G 0.005 0.01 0.003 3 6 4 0.008 1 0 0 0 0 10.88 123149 chr11 101833899 101833899 G T rs77585073 CEP126 Nonsynonymous SNV L711F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.188 123150 chr11 17591822 17591822 C T rs201183725 OTOG Nonsynonymous SNV R626W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.7 123151 chr11 101857590 101857590 T C rs7111429 CEP126 Nonsynonymous SNV M1021T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.39 123152 chr11 101985018 101985018 C G rs143682472 YAP1 Synonymous SNV P155P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.094 123153 chr1 109492478 109492478 T C rs34281840 CLCC1 Synonymous SNV S65S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.801 123154 chrX 153136290 153136290 T G rs201204893 L1CAM Synonymous SNV R212R 0.001 0.005 0 2 1 2 0.005 0 0 1 0 0 Benign/Likely benign 0.051 123155 chrX 153185076 153185076 C T ARHGAP4 Nonsynonymous SNV G249E 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.002 123156 chr11 113651171 113651171 C T rs373289613 CLDN25 Synonymous SNV F218F 0.009 0.008 0.007 1 11 3 0.003 2 0 0 0 0 9.622 123157 chr11 18026074 18026074 G A rs149713316 SERGEF Stop gain Q121X 0.004 0 0 0 5 0 0 0 0 0 0 0 37 123158 chr11 18313159 18313159 G A rs760229257 HPS5 Nonsynonymous SNV T643I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.711 123159 chrX 15706849 15706849 C T CA5BP1, CA5BP1-CA5B 0.001 0 0 0 1 0 0 0 0 0 0 0 3.344 123160 chr1 173772300 173772300 G A rs755386136 CENPL Nonsynonymous SNV A255V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 123161 chr11 114569445 114569445 A G rs112829027 NXPE2 Nonsynonymous SNV T271A 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 0.177 123162 chr11 107375545 107375545 C A rs61749473 ALKBH8 Nonsynonymous SNV G615C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 123163 chr11 117160380 117160380 T G rs143544031 BACE1 Nonsynonymous SNV M370L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.71 123164 chr6 121482130 121482130 T C rs374719669 TBC1D32 Synonymous SNV P881P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.074 123165 chr11 47469421 47469421 G A rs56245238 RAPSN Synonymous SNV D158D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.34 123166 chr11 47602167 47602167 A C NDUFS3 Nonsynonymous SNV Q75P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 123167 chr11 47819814 47819814 C T rs764212791 NUP160 Nonsynonymous SNV A998T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 123168 chr11 118898370 118898370 T A rs34203644 SLC37A4 Nonsynonymous SNV N198I 0.01 0 0.01 2 12 0 0.005 3 0 0 0 0 Benign/Likely benign 23.9 123169 chr11 637324 637324 C G DRD4 Nonsynonymous SNV A7G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 123170 chrX 29301321 29301321 G T IL1RAPL1 Nonsynonymous SNV A117S 0.002 0.008 0 2 2 3 0.005 0 1 1 0 1 15.29 123171 chrX 48546713 48546713 C T rs782149318 WAS Nonsynonymous SNV R268W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 123172 chr11 120278513 120278513 A T rs201514532 ARHGEF12 Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.445 123173 chrX 53105905 53105905 C T rs187452226 GPR173 Synonymous SNV C34C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.574 123174 chr11 281073 281073 C T rs143978016 NLRP6 Nonsynonymous SNV R447C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 32 123175 chrX 54275740 54275740 G A WNK3 Nonsynonymous SNV A1014V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.412 123176 chr11 122774942 122774944 GGA - rs539744500 JHY E220del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 123177 chr11 11374466 11374468 AAC - rs578216192 CSNK2A3 V67del 0.002 0 0 0 2 0 0 0 0 0 0 0 123178 chr1 185703951 185703951 G C HMCN1 Nonsynonymous SNV A14P 0 0.005 0 0 0 2 0 0 0 0 0 0 11.59 123179 chr11 116633553 116633553 G T BUD13 Nonsynonymous SNV T251K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.445 123180 chr1 193065799 193065799 G A rs141929600 GLRX2 Nonsynonymous SNV H111Y 0 0.005 0 3 0 2 0.008 0 0 0 0 0 28 123181 chr1 196303055 196303055 G A rs149725107 KCNT2 Nonsynonymous SNV S590L 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 24.2 123182 chr11 123811255 123811255 C G rs781492184 OR4D5 Nonsynonymous SNV P311R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 123183 chr11 33076166 33076166 A G TCP11L1 Nonsynonymous SNV E64G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 123184 chrX 70888283 70888283 C T rs11795584 LOC101059915 Synonymous SNV S210S 0.004 0 0.003 2 5 0 0.005 1 1 0 0 0 2.255 123185 chr11 65293663 65293663 C T rs757452756 SCYL1 Synonymous SNV F148F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 18.04 123186 chr6 150004634 150004634 G A rs55874734 LATS1 Nonsynonymous SNV P251S 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 Likely benign 15.72 123187 chr11 65321757 65321757 C T LTBP3 Synonymous SNV V142V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.19 123188 chr6 151152284 151152284 T C PLEKHG1 Synonymous SNV A640A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.295 123189 chrX 76875951 76875951 T C rs782211965 ATRX Synonymous SNV A1690A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.72 123190 chr11 117860305 117860305 G A rs4252303 IL10RA Nonsynonymous SNV V113I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign/Likely benign 0.006 123191 chr11 35756986 35756986 G A TRIM44 Nonsynonymous SNV G334R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 123192 chrX 85128123 85128123 T C CHM Synonymous SNV L568L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.966 123193 chr6 152638004 152638004 C T rs750350315 SYNE1 Nonsynonymous SNV E5493K 0 0 0.003 2 0 0 0.005 1 0 0 0 1 34 123194 chr10 100022499 100022499 C A LOXL4 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 123195 chr11 120831733 120831733 G A rs139636929 GRIK4 Nonsynonymous SNV A664T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 123196 chr6 157100020 157100020 C T ARID1B Synonymous SNV G319G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.536 123197 chr10 101689718 101689718 T C rs552702605 DNMBP Nonsynonymous SNV Y268C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.65 123198 chr10 101914680 101914680 G T rs143495333 ERLIN1 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 123199 chr11 11986144 11986144 T C rs114873269 DKK3 Nonsynonymous SNV E307G 0.006 0.008 0.034 2 7 3 0.005 10 0 1 1 0 Benign 16.02 123200 chr10 105110592 105110592 C G PCGF6 Nonsynonymous SNV E78Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 123201 chr6 160543357 160543357 C T rs559672598 SLC22A1 Synonymous SNV P130P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.834 123202 chr1 204230441 204230441 G A rs141581226 PLEKHA6 Nonsynonymous SNV R173W 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 23.5 123203 chr10 105139477 105139477 G A rs142451092 TAF5 Nonsynonymous SNV S409N 0.015 0.003 0.017 6 18 1 0.015 5 0 0 0 0 not provided 15.74 123204 chr11 67256784 67256784 C T rs548910485 AIP Nonsynonymous SNV A50V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 27.3 123205 chr6 160968968 160968968 G A rs41264848 LPA Synonymous SNV D1719D 0.003 0.005 0.02 3 4 2 0.008 6 0 0 0 0 2.18 123206 chr1 204588668 204588668 G A rs34224191 LRRN2 Synonymous SNV N151N 0.007 0.016 0.007 4 8 6 0.01 2 0 0 0 0 0.86 123207 chr11 67812467 67812467 C T rs573229725 TCIRG1 Nonsynonymous SNV R139W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123208 chr11 133790879 133790879 G A rs200136452 IGSF9B Nonsynonymous SNV P914L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 123209 chr11 133794734 133794734 G A rs117328238 IGSF9B Synonymous SNV I700I 0.01 0.016 0.017 2 12 6 0.005 5 0 0 0 0 14.4 123210 chr11 124757281 124757281 G A rs139537489 ROBO4 Nonsynonymous SNV T579I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.657 123211 chr10 105953628 105953628 C T rs149072807 CFAP43 Nonsynonymous SNV V480I 0.003 0 0 0 3 0 0 0 0 0 0 0 1.662 123212 chr11 552101 552101 C T rs144502453 LRRC56 Synonymous SNV P350P 0.011 0.018 0.014 5 13 7 0.013 4 0 0 0 0 7.585 123213 chr6 168070293 168070293 G A rs112576008 LINC02538 0 0 0.027 0 0 0 0 8 0 0 0 0 3.557 123214 chr6 168070390 168070390 T C rs111280025 LINC02538 0 0 0.024 0 0 0 0 7 0 0 0 0 2.591 123215 chr6 168465594 168465594 T C rs139205968 FRMD1 Nonsynonymous SNV H134R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 22.2 123216 chr11 70208579 70208579 G A rs138402193 PPFIA1 Synonymous SNV P950P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.412 123217 chr11 124750471 124750471 C A rs139835890 ROBO3 Nonsynonymous SNV S421R 0 0 0 6 0 0 0.015 0 0 0 0 0 Likely benign 24.2 123218 chr11 17491706 17491706 G A rs137873871 ABCC8 Synonymous SNV V118V 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 12 123219 chr1 208225673 208225673 C T rs368033332 PLXNA2 Nonsynonymous SNV G998R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 123220 chr11 556301 556301 C G rs770792181 LMNTD2 Nonsynonymous SNV S383T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 123221 chr11 17621218 17621218 C T rs117005078 OTOG Nonsynonymous SNV P1240L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 123222 chr11 126075672 126075672 T G rs139880294 RPUSD4 Nonsynonymous SNV I188L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.2 123223 chr11 1778757 1778757 A G CTSD Synonymous SNV S167S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.114 123224 chr10 11908740 11908740 G A rs61735194 PROSER2 Nonsynonymous SNV A117T 0 0.005 0.01 0 0 2 0 3 0 0 0 0 1.931 123225 chr10 11912297 11912297 C T rs116295162 PROSER2 Synonymous SNV S400S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.58 123226 chr10 11912336 11912336 C T rs143145956 PROSER2 Synonymous SNV G413G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.35 123227 chr11 17388631 17388631 G A NCR3LG1 Nonsynonymous SNV S166N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 123228 chr11 130781364 130781364 G A SNX19 Stop gain Q24X 0 0 0 3 0 0 0.008 0 0 0 0 0 3.116 123229 chr11 76990364 76990364 G A GDPD4 Nonsynonymous SNV S45F 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 123230 chr11 17667125 17667125 C T rs191662816 OTOG Nonsynonymous SNV R2838C 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 123231 chr11 1651199 1651228 AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs764496294 KRTAP5-5 A53_C62del 0.005 0.008 0.014 4 6 3 0.01 4 2 0 2 1 123232 chr6 33561075 33561075 G C rs7759154 LINC00336 0 0 0.024 0 0 0 0 7 0 0 0 0 3.665 123233 chr11 2339138 2339138 G A rs199740795 TSPAN32 Nonsynonymous SNV R316Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 1.431 123234 chr11 36250784 36250784 C G rs202242031 LDLRAD3 Nonsynonymous SNV P243R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.2 123235 chr6 36269723 36269723 T C rs146577333 PNPLA1 Synonymous SNV N201N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.932 123236 chr10 16562813 16562813 G T rs757946024 C1QL3 Synonymous SNV P84P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.273 123237 chr6 3850338 3850338 G A rs117488732 FAM50B Nonsynonymous SNV R98Q 0.005 0.008 0.017 5 6 3 0.013 5 0 0 0 0 1.535 123238 chr6 39895143 39895143 C A rs770756364 MOCS1 Nonsynonymous SNV A59S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.66 123239 chr1 235600723 235600723 A G rs35663526 TBCE Synonymous SNV E237E 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.022 123240 chr1 235667516 235667516 G A B3GALNT2 Nonsynonymous SNV L13F 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.3 123241 chr6 41487357 41487357 C T rs36025606 LINC01276 0 0 0.024 0 0 0 0 7 0 0 3 0 13.92 123242 chr6 41707630 41707630 G A rs780894976 PGC Synonymous SNV I274I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 123243 chr11 58723356 58723356 G A rs376379761 GLYATL1 Synonymous SNV L255L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.813 123244 chr6 42227324 42227324 A G rs73733129 TRERF1 Synonymous SNV A694A 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 5.837 123245 chr11 58979848 58979848 G A rs200830689 MPEG1 Nonsynonymous SNV T164I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 123246 chr12 103699960 103699960 T C rs376295502 C12orf42 Synonymous SNV P141P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.065 123247 chr10 26462755 26462755 A T MYO3A Nonsynonymous SNV T1188S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.128 123248 chr11 59610055 59610055 G C rs999307359 CBLIF Nonsynonymous SNV S124R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 123249 chr11 4112898 4112898 G A rs140080199 STIM1 Nonsynonymous SNV R749H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 123250 chr10 293358 293358 A C rs34846683 ZMYND11 Synonymous SNV P291P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.086 123251 chr12 108140074 108140074 C T rs140779030 PRDM4 Synonymous SNV Q418Q 0.009 0.005 0.003 4 11 2 0.01 1 0 0 0 0 14.01 123252 chr11 6048888 6048888 A G rs766923276 OR56A1 Nonsynonymous SNV V16A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 123253 chr11 60497074 60497074 G T rs147031183 MS4A18 Stop gain G96X 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 34 123254 chr6 4892391 4892391 G A rs755337916 CDYL Nonsynonymous SNV G25S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.06 123255 chr11 4148480 4148480 C T RRM1 Synonymous SNV S224S 0 0 0 3 0 0 0.008 0 0 0 0 0 13.05 123256 chr12 109182122 109182122 T C rs200584556 SSH1 Nonsynonymous SNV N931S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.867 123257 chr6 49409621 49409621 A G MMUT Synonymous SNV D580D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.598 123258 chr11 433357 433357 G C rs79329594 ANO9 Nonsynonymous SNV H103D 0.002 0 0 5 2 0 0.013 0 0 0 0 0 0.003 123259 chr11 47353674 47353674 C T rs727503167 MYBPC3 Nonsynonymous SNV A1255T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 123260 chr12 110206690 110206690 G A rs754643198 FAM222A Nonsynonymous SNV R319Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 123261 chr11 61113946 61113946 C T rs139056511 TKFC Nonsynonymous SNV R567W 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 28.4 123262 chr12 110925718 110925718 A G rs17188964 FAM216A Nonsynonymous SNV R225G 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 23.5 123263 chr12 111319100 111319100 G A rs369450203 CCDC63 Nonsynonymous SNV A206T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 123264 chr10 35819162 35819162 C T rs139143749 CCNY Synonymous SNV I57I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 123265 chr11 6191528 6191528 T C rs185967589 OR52B2 Nonsynonymous SNV H10R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 9.17 123266 chr11 61919414 61919414 C G INCENP Nonsynonymous SNV P904R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 123267 chr11 62259235 62259235 G A rs199527649 AHNAK Synonymous SNV A137A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.22 123268 chr11 57466485 57466485 G C ZDHHC5 Nonsynonymous SNV R526P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 123269 chr11 57466486 57466486 A T ZDHHC5 Synonymous SNV R526R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 123270 chr11 57480270 57480270 C G rs143908831 TMX2 Nonsynonymous SNV D60E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 123271 chr12 113796594 113796594 G A rs778977304 PLBD2 Synonymous SNV S63S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.18 123272 chr11 4945161 4945161 C T rs145607331 OR51G1 Nonsynonymous SNV V137I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.001 123273 chr11 62910886 62910886 G A rs201635557 SLC22A24 Synonymous SNV Y122Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.448 123274 chr6 74073512 74073512 C T rs200036428 KHDC3L Nonsynonymous SNV P195S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.9 123275 chr12 12037461 12037461 A G ETV6 Synonymous SNV E364E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.921 123276 chr11 58275342 58275342 C A rs370146756 OR5B21 Synonymous SNV T79T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.42 123277 chr11 5199433 5199433 C T rs117337408 OR52Z1 Synonymous SNV R136R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 6.046 123278 chr6 75797391 75797391 C T rs41266761 COL12A1 Nonsynonymous SNV R1864H 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 29.6 123279 chr11 4842839 4842839 A G rs185898822 OR51F2 Nonsynonymous SNV Y63C 0.011 0.003 0.003 2 13 1 0.005 1 1 0 0 0 9.858 123280 chr10 54076363 54076363 G T DKK1 Nonsynonymous SNV L199F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 123281 chr6 86199270 86199270 T C NT5E Nonsynonymous SNV I388T 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 26.7 123282 chr6 87970615 87970615 T A rs202042334 ZNF292 Nonsynonymous SNV L2423H 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 23.5 123283 chr2 11351835 11351835 G A rs770615625 ROCK2 Synonymous SNV I639I 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 12.49 123284 chr10 5790738 5790738 G A rs183849963 TASOR2 Nonsynonymous SNV C1704Y 0.006 0.005 0 0 7 2 0 0 0 0 0 0 3.639 123285 chr10 61828725 61828725 - AGTGGTGGTGGTGGTGGC rs754855737 ANK3 T3971_T3972insATTTTT 0.001 0 0 0 1 0 0 0 0 0 0 0 123286 chr11 5255242 5255242 G A rs61746501 HBD Synonymous SNV H98H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 12.22 123287 chr11 5255650 5255650 G A rs35406175 HBD Nonsynonymous SNV T5I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 17.19 123288 chr11 5536996 5536996 G C UBQLNL Nonsynonymous SNV L226V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 123289 chr7 100417325 100417325 C T rs569874323 EPHB4 Nonsynonymous SNV R384Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 123290 chr11 65631127 65631127 C T rs150334520 MUS81 Nonsynonymous SNV T299M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.456 123291 chr11 5411473 5411473 C A rs112259459 OR51M1 Nonsynonymous SNV P282H 0.005 0.008 0.01 0 6 3 0 3 0 0 0 0 18.85 123292 chr11 65631355 65631355 C T rs763824406 MUS81 Nonsynonymous SNV R349C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 123293 chr10 69961746 69961746 G C rs781011786 MYPN Nonsynonymous SNV R1218S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 123294 chr12 129181835 129181835 T G TMEM132C Nonsynonymous SNV S666A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.404 123295 chr2 21250803 21250803 A G APOB Nonsynonymous SNV I655T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.9 123296 chr10 70406747 70406747 A G rs144156611 TET1 Nonsynonymous SNV T1421A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 6.251 123297 chr11 6643664 6643664 G A rs147679452 DCHS1 Synonymous SNV C3081C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.187 123298 chr11 6645459 6645459 G A rs146434035 DCHS1 Nonsynonymous SNV T2483I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.45 123299 chr12 132398908 132398908 C A ULK1 Nonsynonymous SNV P420Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 123300 chr11 55541567 55541567 A G rs763695415 OR5D13 Synonymous SNV T218T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 123301 chr2 26435449 26435449 C G HADHA Nonsynonymous SNV C322S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 123302 chr11 67223688 67223688 C T rs149589649 CABP4 Synonymous SNV D27D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.52 123303 chr12 133084813 133084813 G A rs752358084 FBRSL1 Synonymous SNV S122S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 123304 chr10 73053220 73053220 G A rs142270773 UNC5B Nonsynonymous SNV G600S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 123305 chr2 27317732 27317732 G A KHK Nonsynonymous SNV G92R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 123306 chr11 68747906 68747906 C T rs374239193 MRGPRD Nonsynonymous SNV A184T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 123307 chr12 14772152 14772152 A G rs374833047 GUCY2C Synonymous SNV T956T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.91 123308 chr2 27601035 27601035 T A ZNF513 Nonsynonymous SNV M273L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.911 123309 chr10 73921351 73921351 C G rs143416302 ASCC1 Nonsynonymous SNV E191Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.03 123310 chr10 75532718 75532718 G C FUT11 Synonymous SNV A209A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.925 123311 chr11 63669734 63669734 C T rs1057177 MARK2 Nonsynonymous SNV P389L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 123312 chr10 75893891 75893891 G A rs139413801 AP3M1 Synonymous SNV T159T 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 13.55 123313 chr2 27803279 27803279 C T rs145678525 C2orf16 Synonymous SNV T1280T 0.008 0.016 0.01 9 9 6 0.023 3 0 0 0 0 9.437 123314 chr12 15803870 15803870 T C rs375337854 EPS8 Nonsynonymous SNV M441V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.139 123315 chr10 79741937 79741937 C T rs143422889 POLR3A Nonsynonymous SNV R1245Q 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 123316 chr10 7627983 7627983 C T rs529878669 ITIH5 Nonsynonymous SNV R116H 0 0.005 0 0 0 2 0 0 0 0 0 0 3.578 123317 chr7 100684488 100684488 C T rs200952399 MUC17 Nonsynonymous SNV P3264L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 15.78 123318 chr7 102112686 102112686 C T LRWD1 Synonymous SNV V336V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 123319 chr10 88696697 88696697 C T MMRN2 Nonsynonymous SNV G885R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123320 chr11 73602191 73602191 C T rs376660007 PAAF1 Nonsynonymous SNV A77V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.045 123321 chr11 73670662 73670662 T A rs756043336 DNAJB13 Nonsynonymous SNV V99E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 123322 chr11 73814194 73814194 C T rs139855190 C2CD3 Synonymous SNV P854P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 123323 chr7 112407447 112407447 G A rs770419021 TMEM168 Synonymous SNV S633S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.011 123324 chr12 29649565 29649565 T G rs777884599 OVCH1 Nonsynonymous SNV E36A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 123325 chr10 93713538 93713538 A T rs146734126 BTAF1 Synonymous SNV G203G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.826 123326 chr10 91497605 91497605 A G rs34999049 KIF20B Nonsynonymous SNV N1003D 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 0.094 123327 chr11 65688111 65688111 C T DRAP1 Nonsynonymous SNV S134F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 123328 chr11 76903149 76903149 C T rs111033376 MYO7A Synonymous SNV C1326C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.16 123329 chr7 127253829 127253829 T C rs327517 PAX4 Synonymous SNV Q181Q 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign/Likely benign 1.326 123330 chr7 127637857 127637857 T C rs61743021 SND1-IT1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.606 123331 chr10 96018888 96018888 C T rs367629770 PLCE1 Synonymous SNV S957S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.94 123332 chr11 66617502 66617502 G A rs139540331 PC Nonsynonymous SNV A935V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26 123333 chr11 5717649 5717649 T A TRIM22 Nonsynonymous SNV F63I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 123334 chr10 98325094 98325094 A G rs987519241 TM9SF3 Nonsynonymous SNV Y130H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 123335 chr10 98740874 98740874 G A rs114538392 LCOR Synonymous SNV T219T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.811 123336 chr10 98742348 98742348 C G rs34104025 LCOR Nonsynonymous SNV P711A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 123337 chr12 4652968 4652968 C A rs138157083 RAD51AP1 Nonsynonymous SNV S36Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 123338 chr10 98742813 98742813 A C rs7894200 LCOR Nonsynonymous SNV T866P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.55 123339 chr11 86111748 86111748 T C rs369937124 CCDC81 Synonymous SNV D172D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.112 123340 chr12 49315833 49315833 G - FKBP11 N79Ifs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 123341 chr11 1016818 1016818 A G rs747778866 MUC6 Nonsynonymous SNV Y1995H 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 3.193 123342 chr12 49717507 49717507 C A rs774898991 TROAP Nonsynonymous SNV A39D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.587 123343 chr7 141170475 141170475 C G rs764363466 TMEM178B Synonymous SNV G258G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.062 123344 chr12 50528360 50528360 C T rs765768820 CERS5 Nonsynonymous SNV R333Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 123345 chr12 50744680 50744680 C G rs183549613 FAM186A Nonsynonymous SNV A1979P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 123346 chr7 142626549 142626549 C A rs4236480 TRPV5 Nonsynonymous SNV R154L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.787 123347 chr7 142658565 142658565 G A rs139992997 KEL Synonymous SNV P35P 0 0 0.01 0 0 0 0 3 0 0 0 0 8.616 123348 chr7 143095723 143095723 G A rs763362632 EPHA1 Nonsynonymous SNV T436I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.215 123349 chr11 58723289 58723289 A G GLYATL1 Nonsynonymous SNV Y233C 0 0 0 5 0 0 0.013 0 0 0 0 0 15.41 123350 chr12 5153405 5153405 G T rs61737395 KCNA5 Nonsynonymous SNV G31V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 11.75 123351 chr11 73528875 73528875 C T rs1033963040 MRPL48 Nonsynonymous SNV R40W 0.001 0 0 0 1 0 0 0 0 0 0 0 2.417 123352 chr2 74043221 74043221 G A C2orf78 Nonsynonymous SNV S624N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 123353 chr11 9838554 9838554 G A rs765001700 SBF2 Nonsynonymous SNV R1271C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 35 123354 chr11 61048322 61048322 G C rs61744427 VWCE Synonymous SNV A391A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 3.461 123355 chr11 61032596 61032596 C T VWCE Nonsynonymous SNV R685Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.607 123356 chr11 61254514 61254514 G A rs116129637 PPP1R32 Nonsynonymous SNV R290Q 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 25 123357 chr7 149571046 149571046 T C rs374786366 ATP6V0E2 Synonymous SNV G13G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.057 123358 chr12 102512147 102512147 C T rs139625051 NUP37 Synonymous SNV T50T 0.003 0 0 0 4 0 0 0 0 0 0 0 17.63 123359 chr11 76826583 76826583 G A rs369224922 CAPN5 Nonsynonymous SNV R281H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123360 chr12 104067770 104067770 C T rs373981722 STAB2 Synonymous SNV A819A 0.003 0 0 0 4 0 0 0 0 0 0 0 19.97 123361 chr12 104126807 104126807 C T rs117118859 STAB2 Synonymous SNV I1769I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.37 123362 chr11 107427543 107427543 C T rs151317361 ALKBH8 Nonsynonymous SNV V109M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 123363 chr11 62594845 62594845 T A rs148833107 STX5 Nonsynonymous SNV T108S 0.001 0 0 0 1 0 0 0 0 0 0 0 27 123364 chr11 102589291 102589291 A G MMP8 Nonsynonymous SNV L213P 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 25.6 123365 chr11 113234625 113234625 G A rs199559784 TTC12 Nonsynonymous SNV E573K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 123366 chr7 154735808 154735808 A C rs575998054 PAXIP1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 123367 chr11 63488253 63488253 C T rs774632996 RTN3 Nonsynonymous SNV T648I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.33 123368 chr11 116649759 116649759 T C rs74773964 ZPR1 Nonsynonymous SNV E367G 0.009 0.023 0.024 0 10 9 0 7 0 0 1 0 25.8 123369 chr11 117214990 117214990 C T rs747188099 CEP164 Nonsynonymous SNV P64L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 123370 chr11 88241800 88241800 A G rs142032384 GRM5 Nonsynonymous SNV L1168P 0.003 0 0 0 3 0 0 0 0 0 0 0 28.2 123371 chr11 108382303 108382303 A G rs877474 EXPH5 Nonsynonymous SNV C1123R 0.009 0.013 0.003 3 10 5 0.008 1 0 0 0 0 0.02 123372 chr11 64535270 64535270 C A rs139117230 SF1 Nonsynonymous SNV G257V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 123373 chr12 56120552 56120552 G A rs200393279 CD63 Nonsynonymous SNV R120W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 123374 chr11 108577478 108577478 T G rs149047886 DDX10 Nonsynonymous SNV D412E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.97 123375 chr7 17374568 17374568 T C rs756880752 AHR Synonymous SNV Y322Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 123376 chr12 57111535 57111535 G T rs762861699 NACA Nonsynonymous SNV P1260H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.062 123377 chr11 64757177 64757177 C T rs146752591 BATF2 Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 123378 chr11 118971495 118971495 G A rs397515327 DPAGT1 Nonsynonymous SNV A114V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 123379 chr12 57431366 57431366 C T rs148808080 MYO1A Nonsynonymous SNV G674D 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Likely benign 32 123380 chr11 119044517 119044517 C T rs752080494 NLRX1 Nonsynonymous SNV R187W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 123381 chr12 57571011 57571011 A T rs768364494 LRP1 Synonymous SNV A1393A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.74 123382 chr12 57910893 57910893 G C rs781256056 DDIT3 Nonsynonymous SNV P93R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 123383 chr11 65107898 65107898 C A DPF2 Nonsynonymous SNV H25Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 123384 chr7 23286529 23286529 C T rs140122424 GPNMB Nonsynonymous SNV P18L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22.6 123385 chr11 12020270 12020270 C G DKK3 Synonymous SNV V136V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 123386 chr12 6101169 6101169 G A VWF Nonsynonymous SNV P2205L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.667 123387 chr12 100660820 100660820 A G rs779354682 DEPDC4 Nonsynonymous SNV M12T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.161 123388 chr2 118578770 118578770 G A rs61748152 DDX18 Nonsynonymous SNV C183Y 0.007 0.013 0.003 2 8 5 0.005 1 0 0 0 0 Benign 9.122 123389 chr12 120907305 120907305 C T rs200749502 SRSF9 Synonymous SNV K36K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 123390 chr2 118582189 118582189 G A rs61755349 DDX18 Nonsynonymous SNV V371I 0.006 0.013 0.003 2 7 5 0.005 1 0 0 0 0 Benign 23 123391 chr11 65638676 65638676 T C EFEMP2 Nonsynonymous SNV N107D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 123392 chr2 44507894 44507894 T C rs749406831 SLC3A1 Nonsynonymous SNV I157T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 123393 chr11 123755320 123755320 T C rs752359970 TMEM225 Nonsynonymous SNV M69V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.191 123394 chr11 6578795 6578795 G T rs532079554 DNHD1 Nonsynonymous SNV S2757I 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.026 123395 chr12 104147024 104147024 C T rs150749035 STAB2 Nonsynonymous SNV R2203C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 123396 chr7 29690571 29690571 G C rs761483723 LOC646762 0 0 0.007 0 0 0 0 2 0 0 0 0 3.162 123397 chr11 65618236 65618236 G A rs117016392 SNX32 Synonymous SNV G171G 0.007 0.013 0.02 3 8 5 0.008 6 0 0 0 0 10.79 123398 chr12 104379508 104379508 - GGAGTTAAGAGGAGAATCAGCTTTC rs749286024 TDG 0.003 0 0 0 3 0 0 0 0 0 0 0 123399 chr11 66240761 66240761 C G rs149736299 PELI3 Nonsynonymous SNV S62C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 123400 chr12 69090636 69090636 T C rs146894632 NUP107 Synonymous SNV F133F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.744 123401 chr11 66258813 66258813 C T rs149136081 DPP3 Nonsynonymous SNV P223S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 123402 chr11 66512315 66512315 - GC C11orf80 Frameshift insertion G35Afs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 123403 chr11 66512321 66512321 - CGGC C11orf80 Frameshift insertion Y37Rfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 123404 chr7 31142933 31142933 A C ADCYAP1R1 Nonsynonymous SNV S356R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 123405 chr11 66053228 66053228 C T rs140256356 YIF1A Synonymous SNV T143T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 15.7 123406 chr7 32910328 32910328 G A rs147353222 KBTBD2 Synonymous SNV D167D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.165 123407 chr12 123344342 123344342 C T rs149876989 HIP1R Synonymous SNV H810H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 123408 chr12 123477204 123477204 C T rs568313501 PITPNM2 Nonsynonymous SNV R749Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 123409 chr12 108985422 108985422 G A rs377507463 TMEM119 Synonymous SNV A246A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.839 123410 chr12 78400236 78400236 T C rs200612853 NAV3 Synonymous SNV N306N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.052 123411 chr7 36450165 36450165 G A rs145634440 ANLN Nonsynonymous SNV R380H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 33 123412 chr11 68839415 68839415 C T rs906489741 TPCN2 Nonsynonymous SNV R329W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 123413 chr2 136570182 136570182 C T rs749736291 LCT Synonymous SNV S684S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.07 123414 chr12 110207078 110207078 A G rs150508057 FAM222A Synonymous SNV L448L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.84 123415 chr7 41739907 41739907 G T rs147747702 INHBA Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.492 123416 chr2 141986865 141986865 A G rs148653480 LRP1B Nonsynonymous SNV M246T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.03 123417 chr12 12640058 12640058 C - DUSP16 D199Tfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 123418 chr12 12640060 12640063 GGCT - DUSP16 K197Mfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 123419 chr11 700181 700181 G A rs143901821 TMEM80 Nonsynonymous SNV G100R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 123420 chr11 70172428 70172428 A G PPFIA1 Nonsynonymous SNV I223V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 123421 chr12 111885816 111885839 TCCCTTCCTCACTGGGATTCAGAG - rs537932422 SH2B3 D283_W290del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 123422 chr12 88512450 88512450 G T rs763559949 CEP290 Stop gain Y531X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 36 123423 chr12 130185048 130185048 A G rs151244831 TMEM132D Nonsynonymous SNV V92A 0.01 0.018 0.017 11 12 7 0.028 5 0 0 0 0 0.026 123424 chr12 88548133 88548133 T C rs117274752 TMTC3 Synonymous SNV Y86Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.072 123425 chr7 44152266 44152266 C T rs144799697 AEBP1 Nonsynonymous SNV A776V 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 23.3 123426 chr11 1263002 1263002 C T rs368026158 MUC5B Nonsynonymous SNV P1631L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.367 123427 chr12 91572297 91572297 T C rs141738168 DCN Synonymous SNV A11A 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign/Likely benign 5.341 123428 chr12 9260121 9260121 T C rs370213648 A2M Nonsynonymous SNV Q143R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.372 123429 chr11 129735822 129735822 C T rs117354966 NFRKB Synonymous SNV K1221K 0.023 0.016 0.027 4 27 6 0.01 8 0 0 0 0 17.56 123430 chr11 71634391 71634391 A T LOC100133315 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 123431 chr7 47866954 47866954 G A PKD1L1 Nonsynonymous SNV A2283V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.39 123432 chr2 74688854 74688854 C T rs186098891 MOGS Nonsynonymous SNV A688T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 12.85 123433 chr11 70332372 70332372 G A SHANK2 Synonymous SNV D754D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.004 123434 chr11 74547524 74547524 T C rs781367289 RNF169 Nonsynonymous SNV C626R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 123435 chr11 73744771 73744771 C T C2CD3 Nonsynonymous SNV G2145D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.97 123436 chr2 79253852 79253852 G A rs752631491 REG3G Synonymous SNV Q30Q 0 0 0.007 1 0 0 0.003 2 0 0 1 0 0.809 123437 chr2 166170541 166170541 T C rs376323449 SCN2A Synonymous SNV L436L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 3.125 123438 chr12 99139559 99139559 G T rs61932058 ANKS1B Synonymous SNV A178A 0.014 0.013 0.017 5 17 5 0.013 5 0 0 0 0 10.52 123439 chr11 73021254 73021254 C T rs61758707 ARHGEF17 Nonsynonymous SNV A524V 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 0.092 123440 chr11 76883863 76883863 C T rs142989331 MYO7A Nonsynonymous SNV R623C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 123441 chr2 167760274 167760274 A T rs199731929 XIRP2 Nonsynonymous SNV E94D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.921 123442 chr7 5103780 5103780 G A RBAK Synonymous SNV K231K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.47 123443 chr2 168107737 168107737 T C rs199990336 XIRP2 Nonsynonymous SNV S3057P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 0.001 123444 chr12 20522620 20522620 G T rs145887541 PDE3A Synonymous SNV A134A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 123445 chr2 170037962 170037962 T C rs140272085 LRP2 Nonsynonymous SNV I3389V 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 123446 chr7 5541485 5541485 T C rs371469203 FBXL18 Nonsynonymous SNV M139V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.945 123447 chr11 77301471 77301471 A C rs145893530 AQP11 Nonsynonymous SNV Q145P 0.013 0.008 0 0 15 3 0 0 0 0 0 0 7.218 123448 chr2 170063223 170063223 C T rs147287428 LRP2 Nonsynonymous SNV R2336Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 11.29 123449 chr11 77301472 77301472 G T rs117458417 AQP11 Nonsynonymous SNV Q145H 0.013 0.008 0 0 15 3 0 0 0 0 0 0 17.98 123450 chr7 557116 557116 G A PDGFA Synonymous SNV I25I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.121 123451 chr2 170068502 170068502 T A rs146149181 LRP2 Nonsynonymous SNV T2086S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 123452 chr13 103528048 103528048 C T rs2227871 BIVM-ERCC5, ERCC5 Nonsynonymous SNV A1119V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign/Likely benign 4.266 123453 chr12 22028630 22028630 C T rs148174226 ABCC9 Nonsynonymous SNV G684S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22.7 123454 chr11 19251834 19251834 C A E2F8 Nonsynonymous SNV A438S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 123455 chr11 797863 797863 G A rs537957379 PANO1 Nonsynonymous SNV A80T 0.008 0.016 0.01 2 9 6 0.005 3 0 0 0 0 10.35 123456 chr11 8009065 8009065 A G rs764166155 EIF3F Nonsynonymous SNV T56A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.113 123457 chr7 64004093 64004093 T A rs200057704 ZNF680 Nonsynonymous SNV K82I 0 0 0.007 0 0 0 0 2 0 0 0 0 14.81 123458 chr2 100210635 100210635 G A rs1017935299 AFF3 Synonymous SNV Y521Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.287 123459 chr2 178096406 178096406 G A rs141363120 NFE2L2 Nonsynonymous SNV L279F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 17.3 123460 chr7 65557564 65557564 C T rs75300185 ASL Synonymous SNV H368H 0 0.003 0.014 0 0 1 0 4 0 0 0 0 Benign/Likely benign 14.57 123461 chr11 2192973 2192973 C T rs199648386 TH Nonsynonymous SNV R15H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 123462 chr11 82997002 82997002 T C rs144749516 CCDC90B Nonsynonymous SNV Q5R 0.009 0.013 0.003 5 11 5 0.013 1 0 0 0 0 1.379 123463 chr11 22242756 22242756 G A rs142858990 ANO5 Synonymous SNV A97A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.91 123464 chr13 113909417 113909417 A T CUL4A Nonsynonymous SNV N670I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 123465 chr13 113960901 113960901 G A rs201650159 LAMP1 Nonsynonymous SNV D55N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.456 123466 chr11 86106423 86106423 G A rs763510233 CCDC81 Synonymous SNV R111R 0.003 0 0 0 3 0 0 0 0 0 0 0 3.819 123467 chr13 114290931 114290931 G A rs143376685 TFDP1 Nonsynonymous SNV G308R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 123468 chr11 17656444 17656444 C T rs533820347 OTOG Nonsynonymous SNV R2524C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Uncertain significance 34 123469 chr13 20426221 20426221 A C rs375681699 ZMYM5 Nonsynonymous SNV S34A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.863 123470 chr12 3736712 3736712 G A rs911393011 CRACR2A Nonsynonymous SNV R608W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 123471 chr7 75614219 75614219 G T rs72557928 POR Synonymous SNV S397S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 123472 chr11 18738367 18738367 G A rs781186957 IGSF22 Nonsynonymous SNV T385M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.3 123473 chr11 279548 279548 C T rs549256712 NLRP6 Nonsynonymous SNV T84I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.597 123474 chr11 290438 290438 G C rs776542685 PGGHG Nonsynonymous SNV C103S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 123475 chr2 179659828 179659828 C G rs144531477 TTN Nonsynonymous SNV E356Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 123476 chr13 25480019 25480019 C A CENPJ Nonsynonymous SNV E719D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.981 123477 chr11 9074740 9074740 T G rs201999971 SCUBE2 Synonymous SNV T451T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.793 123478 chr11 95568581 95568581 G C rs76784113 MTMR2 Nonsynonymous SNV A602G 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign/Likely benign 22.7 123479 chr11 30932903 30932903 C T rs144371995 DCDC1 Nonsynonymous SNV E347K 0.005 0 0 3 6 0 0.008 0 0 0 0 0 13.8 123480 chr2 119727692 119727692 C G rs144080988 MARCO Nonsynonymous SNV L68V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23 123481 chr13 28626797 28626797 T C rs201266613 FLT3 Nonsynonymous SNV T167A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.082 123482 chr11 96074910 96074910 G A rs374801746 MAML2 Synonymous SNV H50H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.997 123483 chr12 102158956 102158956 T C rs777643676 GNPTAB Nonsynonymous SNV Y580C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 123484 chr12 103234251 103234251 G A rs1801152 PAH Synonymous SNV Y414Y 0.012 0.01 0 0 14 4 0 0 0 0 0 0 Benign 7.689 123485 chr12 103352172 103352192 GCAGCAGCAGCAGCAGCAGCA - rs951089298 ASCL1 Q56_Q62del 0.001 0 0 0 1 0 0 0 0 0 0 0 123486 chr7 98552750 98552750 A G rs34111364 TRRAP Synonymous SNV A1895A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 123487 chr12 49981468 49981468 T C rs139465007 FAM186B Nonsynonymous SNV K868E 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 10.13 123488 chr11 3661543 3661543 T C rs139362015 ART5 Nonsynonymous SNV Y39C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.1 123489 chr12 105445981 105445981 T C rs146354857 ALDH1L2 Synonymous SNV V474V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.41 123490 chr12 105557916 105557916 A C rs369824204 WASHC4 Nonsynonymous SNV D1063A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.2 123491 chr13 39587409 39587409 C A rs138493654 PROSER1 Nonsynonymous SNV L638F 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 23.2 123492 chr11 4388681 4388681 C T rs370331430 OR52B4 Nonsynonymous SNV C282Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 123493 chr2 189861933 189861933 C A rs35795890 COL3A1 Nonsynonymous SNV P602T 0.009 0.016 0.007 4 11 6 0.01 2 0 0 0 0 Benign/Likely benign 23.2 123494 chr11 44297048 44297048 G T rs568863681 ALX4 Nonsynonymous SNV S209R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.4 123495 chr2 190595284 190595284 T G rs149575725 ANKAR Nonsynonymous SNV V1086G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 22.8 123496 chr12 2931989 2931989 C T rs61744187 ITFG2 Synonymous SNV C326C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.5 123497 chr2 190611135 190611135 A G rs140886538 ANKAR Nonsynonymous SNV K1363E 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 26.8 123498 chr8 101721933 101721933 T - rs112966887 PABPC1 F335Lfs*19 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 123499 chr2 191161544 191161544 G A rs149479887 HIBCH Synonymous SNV L72L 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 Benign/Likely benign 11.7 123500 chr2 149987463 149987463 A T rs377743029 LYPD6B Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 123501 chr12 29908809 29908809 A T TMTC1 Nonsynonymous SNV D188E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 123502 chr12 51773471 51773471 C T rs34486781 GALNT6 Nonsynonymous SNV S32N 0.02 0.036 0 8 24 14 0.021 0 0 1 0 0 7.211 123503 chr2 192261160 192261160 A G rs114890021 MYO1B Synonymous SNV Q744Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.531 123504 chr8 104933962 104933962 A C rs199861708 RIMS2 Nonsynonymous SNV S571R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 123505 chr8 104943552 104943552 A C rs61753731 RIMS2 Nonsynonymous SNV D608A 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 Benign 24 123506 chr2 201492162 201492162 A G rs16833923 AOX1 Synonymous SNV Q737Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 0.019 123507 chr2 158977928 158977928 A C rs10186677 UPP2 Synonymous SNV A154A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.002 123508 chr2 202074086 202074086 A T rs80358239 CASP10 Nonsynonymous SNV I339L 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 Likely benign 1.311 123509 chr2 160080820 160080820 C A rs201866379 TANC1 Synonymous SNV I1051I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 123510 chr8 11421448 11421448 G A rs202162624 BLK Nonsynonymous SNV R379H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.2 123511 chr2 203806703 203806703 G C CARF Nonsynonymous SNV E26D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.11 123512 chr11 44254000 44254000 C T rs138495222 EXT2 Nonsynonymous SNV T620M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 123513 chr13 92346106 92346106 C T rs112827304 GPC5 Nonsynonymous SNV H331Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 23 123514 chr2 167266247 167266247 C T rs537278563 SCN7A Nonsynonymous SNV A1304T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 123515 chr2 168099951 168099951 C T rs182527642 XIRP2 Synonymous SNV D461D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.737 123516 chr12 117175615 117175615 G A rs199555935 C12orf49 Nonsynonymous SNV P53L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 123517 chr2 209358262 209358262 G A rs140566891 PTH2R Nonsynonymous SNV E400K 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 23.2 123518 chr2 210518057 210518057 G A rs139310749 MAP2 Nonsynonymous SNV E55K 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 Benign 32 123519 chr12 120142252 120142252 G A rs374603803 CIT Synonymous SNV N1698N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 123520 chr8 131130830 131130830 A G rs148934825 ASAP1 Synonymous SNV L567L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.802 123521 chr2 170843173 170843173 T A UBR3 Nonsynonymous SNV I1218N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 123522 chr8 132958866 132958866 C A EFR3A Nonsynonymous SNV L82I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 123523 chr12 120616697 120616697 G A rs200979023 GCN1 Synonymous SNV A161A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 18.07 123524 chr12 121174884 121174886 GGA - rs387906308 ACADS E104del 0.006 0 0 2 7 0 0.005 0 0 0 0 0 123525 chr12 49621812 49621812 A G rs142931565 TUBA1C Nonsynonymous SNV N26D 0.014 0.023 0.007 5 17 9 0.013 2 0 0 0 1 0.134 123526 chr12 121686509 121686509 G A rs768616526 CAMKK2 Nonsynonymous SNV A451V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 123527 chr12 49726855 49726855 G A C1QL4 Synonymous SNV F233F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 123528 chr2 218675027 218675027 G A rs753948729 TNS1 Nonsynonymous SNV S1558L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 123529 chr8 134487997 134487997 C T rs142100792 ST3GAL1 Nonsynonymous SNV A91T 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 8.226 123530 chr8 136246539 136246539 C T rs76102487 LINC01591 0 0 0.007 0 0 0 0 2 0 0 0 0 0.812 123531 chr8 136246658 136246658 G T rs7008933 LINC01591 0 0 0.02 0 0 0 0 6 0 0 0 0 2.77 123532 chr12 122669094 122669094 G A rs189080619 LRRC43 Stop gain W60X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 123533 chr12 123262043 123262043 C T rs61956960 CCDC62 Synonymous SNV I14I 0.008 0.003 0.01 4 9 1 0.01 3 0 0 0 1 16.58 123534 chr12 122999747 122999747 C T rs142949567 RSRC2 Synonymous SNV P210P 0.007 0 0 2 8 0 0.005 0 0 0 0 0 17.97 123535 chr8 142178262 142178262 G A rs201469363 DENND3 Nonsynonymous SNV R638H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 123536 chr8 142188216 142188216 C T rs141207505 DENND3 Synonymous SNV A919A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 14.39 123537 chr2 220037809 220037809 G T CNPPD1 Synonymous SNV A244A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 9.853 123538 chr11 5322768 5322768 G A rs62000996 OR51B4 Stop gain R137X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 123539 chr12 123494445 123494445 G A PITPNM2 Nonsynonymous SNV R199C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123540 chr8 143763413 143763413 G A rs782260537 PSCA Nonsynonymous SNV V70M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.464 123541 chr12 53086339 53086339 - CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGAACTGAT KRT77 Stop gain E432Sfs*20 0.009 0.003 0 0 10 1 0 0 1 0 0 0 123542 chr12 130184761 130184761 C T rs369816529 TMEM132D Nonsynonymous SNV D188N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.13 123543 chr12 131589471 131589471 C G rs144900376 ADGRD1 Synonymous SNV A589A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 123544 chr12 66638363 66638363 A G rs138984535 IRAK3 Nonsynonymous SNV N268D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.38 123545 chr8 144911463 144911463 G C rs200179503 PUF60 Nonsynonymous SNV A4G 0.003 0.013 0.007 0 4 5 0 2 0 0 0 0 22.8 123546 chr14 21551010 21551010 T C rs775148786 ARHGEF40 Synonymous SNV Y455Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.547 123547 chr8 144940966 144940966 C G rs192403981 EPPK1 Nonsynonymous SNV Q2152H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.828 123548 chr12 132629445 132629445 G A rs142163454 NOC4L Nonsynonymous SNV R55H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 123549 chr14 21788304 21788304 C T RPGRIP1 Nonsynonymous SNV P479S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.043 123550 chr8 145001589 145001589 G A PLEC Nonsynonymous SNV R1235W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 123551 chr12 69250412 69250412 C T rs201687643 CPM Synonymous SNV P379P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 123552 chr12 132281899 132281899 G A rs2229809 SFSWAP Nonsynonymous SNV R904H 0.003 0.005 0.003 5 3 2 0.013 1 0 0 0 0 25 123553 chr12 542402 542402 G C rs76228130 CCDC77 Synonymous SNV G213G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.669 123554 chr12 549903 549903 T G rs114037221 CCDC77 Nonsynonymous SNV F356V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 123555 chr14 23548853 23548853 T C rs199552606 ACIN1 Nonsynonymous SNV N582S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.562 123556 chr12 18576899 18576899 C A rs61754414 PIK3C2G Nonsynonymous SNV N769K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.5 123557 chr12 18715827 18715827 G A rs187352063 PIK3C2G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 23.4 123558 chr8 146278494 146278494 A G C8orf33 Nonsynonymous SNV E122G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 123559 chr8 16885119 16885119 C T rs200500624 MICU3 Nonsynonymous SNV P111S 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 13.42 123560 chr12 78511860 78511860 T C rs947419103 NAV3 Synonymous SNV P941P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.836 123561 chr12 78570964 78570964 C A rs748963715 NAV3 Nonsynonymous SNV T1723N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 123562 chr12 21624564 21624564 T C rs146077019 RECQL Nonsynonymous SNV I489V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.006 123563 chr12 79842793 79842793 G A rs56012845 SYT1 Synonymous SNV A386A 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Benign 9.444 123564 chr8 1808068 1808068 G A rs367808477 ARHGEF10 Nonsynonymous SNV E67K 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.41 123565 chr12 25702329 25702329 T C rs751346910 LMNTD1 Nonsynonymous SNV I35V 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 123566 chr12 85460533 85460533 A G rs201707498 LRRIQ1 Nonsynonymous SNV H851R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.95 123567 chr12 2932959 2932959 C T rs747847102 ITFG2 Nonsynonymous SNV R364C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 123568 chr8 22262247 22262247 G A rs112568651 SLC39A14 Synonymous SNV P8P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.91 123569 chr12 31633118 31633118 T G rs61732558 DENND5B Synonymous SNV I103I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.513 123570 chr2 238483690 238483690 G A rs201004899 RAB17 Nonsynonymous SNV A204V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.511 123571 chr12 33031108 33031108 C A rs62001015 PKP2 Nonsynonymous SNV A236S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.94 123572 chr12 333169 333169 T C rs772132119 SLC6A13 Nonsynonymous SNV M342V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 123573 chr11 5624744 5624744 C T rs745385259 TRIM6, TRIM6-TRIM34 Synonymous SNV L96L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.801 123574 chr8 26627756 26627756 C A rs146235804 ADRA1A Synonymous SNV G437G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.668 123575 chr2 241531351 241531351 G T CAPN10 Nonsynonymous SNV V158F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.3 123576 chr12 96389508 96389508 G A rs139361462 HAL Synonymous SNV L61L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 9.787 123577 chr12 68708804 68708804 C T rs144852918 MDM1 Nonsynonymous SNV G195S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.63 123578 chr12 42792674 42792674 T C rs199795415 PPHLN1 Synonymous SNV L143L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.084 123579 chr12 31106952 31106952 C T rs201615323 TSPAN11 Synonymous SNV D9D 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 13.71 123580 chr2 241569440 241569440 A T rs144307503 GPR35 Nonsynonymous SNV Y24F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 123581 chr12 32735280 32735280 G A rs201826412 FGD4 Nonsynonymous SNV G67D 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.932 123582 chr8 30703157 30703157 A C TEX15 Nonsynonymous SNV F1509C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 123583 chr12 45444516 45444516 G A rs139910495 DBX2 Synonymous SNV A65A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 6.856 123584 chr2 242813901 242813901 C T RTP5 Nonsynonymous SNV S65L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 123585 chr8 38187253 38187253 C A rs746738836 NSD3 Nonsynonymous SNV K408N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 123586 chr11 57564246 57564246 A G rs11570195 CTNND1 Synonymous SNV E145E 0.009 0.003 0.02 0 11 1 0 6 0 0 1 0 Benign 4.032 123587 chr14 64494461 64494461 C G rs201838350 SYNE2 Nonsynonymous SNV P2222A 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 Benign 16.59 123588 chr3 4752020 4752020 C T rs373127487 ITPR1 Synonymous SNV S1603S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.5 123589 chr12 49169203 49169203 C T rs139946348 ADCY6 Synonymous SNV E621E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.69 123590 chr12 80645890 80645890 C T rs750445715 OTOGL Synonymous SNV D389D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 123591 chr3 7620196 7620196 A C rs371826840 GRM7 Nonsynonymous SNV T535P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.94 123592 chr12 49315200 49315200 G A rs117927481 CCDC65 Nonsynonymous SNV G334S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 15.69 123593 chr12 50347970 50347970 G A rs371158770 AQP2 Synonymous SNV V131V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 123594 chr8 55370911 55370911 G T rs906312266 SOX17 Synonymous SNV P71P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.68 123595 chr12 50400361 50400361 G A rs150970332 RACGAP1 Synonymous SNV D48D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 4.168 123596 chr8 63891308 63891308 A G rs79820550 NKAIN3-IT1 0 0 0.061 0 0 0 0 18 0 0 0 0 1.122 123597 chr14 68273327 68273327 C T rs758568084 ZFYVE26 Nonsynonymous SNV E318K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.71 123598 chr8 63891311 63891311 A C rs77220564 NKAIN3-IT1 0 0 0.065 0 0 0 0 19 0 0 0 0 0.43 123599 chr8 63891319 63891319 G A rs113984807 NKAIN3-IT1 0 0 0.065 0 0 0 0 19 0 0 0 0 0.255 123600 chr8 63891336 63891336 A G rs7015120 NKAIN3-IT1 0 0 0.075 0 0 0 0 22 0 0 0 0 0.472 123601 chr8 63891368 63891368 T C rs6997520 NKAIN3-IT1 0 0 0.082 0 0 0 0 24 0 0 0 0 0.068 123602 chr8 63891446 63891446 A G rs7015302 NKAIN3-IT1 0 0 0.085 0 0 0 0 25 0 0 0 0 0.543 123603 chr3 10392220 10392220 C T rs768888914 ATP2B2 Synonymous SNV T681T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 123604 chr14 70826241 70826241 T C rs776029151 COX16 Nonsynonymous SNV M22V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 123605 chr12 51451828 51451828 G A rs766608722 LETMD1 Nonsynonymous SNV R186H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123606 chr8 66439466 66439466 G T rs7841300 LINC01299 0 0 0.075 0 0 0 0 22 0 0 10 0 0.913 123607 chr14 71575529 71575529 G A rs149648710 PCNX1 Synonymous SNV S2059S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.89 123608 chr12 52713027 52713027 C T rs541989746 KRT83 Nonsynonymous SNV R169Q 0.003 0 0 0 3 0 0 0 0 0 0 0 34 123609 chr14 75052580 75052580 G A rs61738024 LTBP2 Synonymous SNV P269P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.943 123610 chr11 59630097 59630097 C T rs80072840 TCN1 Nonsynonymous SNV D120N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.009 123611 chr11 59860922 59860922 C T rs35033981 MS4A2 Nonsynonymous SNV T98M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.072 123612 chr3 13916578 13916578 C T rs139562589 WNT7A Nonsynonymous SNV R55Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 123613 chr11 60059758 60059758 C G rs116637643 MS4A4A Synonymous SNV G34G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.013 123614 chr11 60154242 60154242 C A rs2233249 MS4A7 Nonsynonymous SNV P67H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.86 123615 chr8 87641271 87641271 C T rs34839859 CNGB3 Synonymous SNV Q452Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.04 123616 chr12 99020148 99020148 C T rs778221303 IKBIP Nonsynonymous SNV G232S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 7.586 123617 chr8 87680282 87680282 C T rs16916632 CNGB3 Nonsynonymous SNV R203Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 3.979 123618 chr8 87917355 87917355 C A rs16894901 CNBD1 Nonsynonymous SNV Q69K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 15.72 123619 chr3 15300632 15300632 G C rs111624351 SH3BP5-AS1 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.13 123620 chr11 60511363 60511363 A G rs777533542 MS4A18 Nonsynonymous SNV T365A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.348 123621 chr8 91057198 91057198 A G rs148549954 DECR1 Nonsynonymous SNV D287G 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 28.7 123622 chr8 91953077 91953077 G T rs115555424 NECAB1 Nonsynonymous SNV A271S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 25.1 123623 chr11 609146 609146 G A rs1035163484 PHRF1 Synonymous SNV P1230P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.617 123624 chr8 97263168 97263168 T C rs749363533 MTERF3 Nonsynonymous SNV I215V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 123625 chr8 97384214 97384214 C G rs532842712 LOC102724804 0 0 0.003 0 0 0 0 1 0 0 0 0 1.728 123626 chr3 30842514 30842516 CAT - rs528751638 GADL1 D372del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 123627 chr12 53689390 53689390 G T rs200594035 PFDN5 Synonymous SNV P13P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 123628 chr12 53805002 53805002 A G rs149733344 SP1 Nonsynonymous SNV N731S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 123629 chr12 53700840 53700840 C T rs553968048 C12orf10 Synonymous SNV S346S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 123630 chr12 54757464 54757464 G A rs149149231 GPR84 Nonsynonymous SNV L58F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 123631 chr3 37116537 37116537 C A rs756084177 LRRFIP2 Nonsynonymous SNV R194L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 123632 chr13 33635842 33635842 G A rs146235320 KL Nonsynonymous SNV D876N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25.7 123633 chr3 38159464 38159464 G A DLEC1 Synonymous SNV E1554E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.232 123634 chr3 38182256 38182256 G T MYD88 Stop gain G113X 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 34 123635 chr3 38317516 38317516 G A rs200323612 SLC22A13 Nonsynonymous SNV R389H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 123636 chr12 56493987 56493987 A G ERBB3 Synonymous SNV G1053G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.481 123637 chr13 39621965 39621965 G T rs149175958 NHLRC3 Nonsynonymous SNV D249Y 0.002 0.013 0.003 6 2 5 0.015 1 0 1 0 0 27.6 123638 chr11 6292725 6292725 G C rs200083878 CCKBR Synonymous SNV S348S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.873 123639 chr12 56755120 56755120 T C rs11575218 APOF Synonymous SNV T290T 0.008 0.003 0.007 1 9 1 0.003 2 1 0 0 0 0.026 123640 chr12 57351029 57351029 G C rs61742012 RDH16 Nonsynonymous SNV D14E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 20.3 123641 chr11 63532657 63532657 C G rs545631245 C11orf95 Nonsynonymous SNV R236P 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 13.14 123642 chr9 113189922 113189922 G A rs186589232 SVEP1 Nonsynonymous SNV T1975M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 123643 chr14 95669361 95669361 A G rs922986447 CLMN Synonymous SNV D775D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.08 123644 chr12 57406234 57406234 A G rs73334764 TAC3 Nonsynonymous SNV S81P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 0.344 123645 chr12 56815717 56815717 T C rs61733875 TIMELESS Nonsynonymous SNV M869V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.972 123646 chr12 57422645 57422645 T G rs76394585 MYO1A Nonsynonymous SNV E1009A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.852 123647 chr12 56822690 56822690 C T rs11832580 TIMELESS Synonymous SNV K426K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 123648 chr12 57423002 57423002 G A rs79857347 MYO1A Synonymous SNV S973S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.49 123649 chr12 57539082 57539082 C T rs1800127 LRP1 Nonsynonymous SNV A217V 0.008 0.003 0.014 3 9 1 0.008 4 0 0 0 0 24.8 123650 chr3 39225879 39225879 G C rs201302267 XIRP1 Synonymous SNV P369P 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 0.076 123651 chr9 115248723 115248723 G A rs61739363 C9orf147 Synonymous SNV L26L 0 0 0.048 0 0 0 0 14 0 0 1 0 2.364 123652 chr13 46287707 46287707 C A rs147259767 SPERT Nonsynonymous SNV R156S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 123653 chr11 64390366 64390366 C T rs149868452 NRXN2 Synonymous SNV P298P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 123654 chr12 57920368 57920368 T C rs34551572 MBD6 Synonymous SNV A480A 0.007 0.005 0.017 2 8 2 0.005 5 0 0 1 0 0.065 123655 chr12 60098783 60098783 T G rs79227663 SLC16A7 Synonymous SNV A67A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.47 123656 chr12 53708092 53708092 A G rs80027466 AAAS Synonymous SNV L194L 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.667 123657 chr12 63543693 63543693 G T rs113578517 AVPR1A Nonsynonymous SNV F308L 0.003 0.008 0.007 4 3 3 0.01 2 0 0 0 0 Benign 27.6 123658 chr13 25894688 25894688 A G rs145009745 NUP58 Nonsynonymous SNV D232G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 123659 chr9 117139172 117139172 C T rs766186024 AKNA Synonymous SNV K186K 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 14.65 123660 chr9 117139180 117139180 A T rs751407925 AKNA Nonsynonymous SNV S184T 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 2.288 123661 chr3 43121894 43121914 TGCTGACCAGCATGGAGGCAT - rs769294819 POMGNT2 N337_S343del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 123662 chr13 27259976 27259976 C T rs78164122 WASF3 Synonymous SNV S498S 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 19.93 123663 chr15 29415549 29415549 T G rs202221696 FAM189A1 Nonsynonymous SNV Q538P 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 24.9 123664 chr11 65546223 65546223 G A rs377608131 AP5B1 Nonsynonymous SNV R581W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 123665 chr3 45588930 45588930 G A rs142215302 LARS2 Nonsynonymous SNV E874K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 26.4 123666 chr12 56234492 56234492 C T rs778355779 MMP19 Nonsynonymous SNV G160D 0 0 0 2 0 0 0.005 0 0 0 0 0 28.8 123667 chr12 56536192 56536192 C T rs375979253 ESYT1 Synonymous SNV L916L 0 0 0 2 0 0 0.005 0 0 0 0 0 17.54 123668 chr12 7016492 7016492 C T rs371255141 LRRC23 Synonymous SNV H168H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.067 123669 chr12 7016596 7016596 A G rs140659005 LRRC23 Nonsynonymous SNV K203R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 21.8 123670 chr13 41373319 41373319 G A rs34615430 SLC25A15 Nonsynonymous SNV R61H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 123671 chr13 42740749 42740749 T C DGKH Nonsynonymous SNV F108L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 123672 chr9 125437569 125437569 G A rs137858464 OR1L3 Nonsynonymous SNV R54Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.753 123673 chr11 66243482 66243482 C T rs150795837 PELI3 Synonymous SNV C311C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.837 123674 chr14 102514328 102514328 C T rs149300055 DYNC1H1 Nonsynonymous SNV T4394M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 123675 chr12 7354852 7354852 C T rs200020561 PEX5 Nonsynonymous SNV R220W 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 35 123676 chr3 48610625 48610625 G A rs61729223 COL7A1 Synonymous SNV P2232P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.837 123677 chr11 67208816 67208816 G A rs34907160 CORO1B Synonymous SNV G208G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.485 123678 chr15 40659871 40659871 G A rs138998520 DISP2 Nonsynonymous SNV V520M 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 23.2 123679 chr11 67219723 67219723 A G rs144630243 GPR152 Nonsynonymous SNV L158P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.4 123680 chr14 103440459 103440459 T C rs769436597 CDC42BPB Nonsynonymous SNV E512G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 123681 chr3 49161186 49161186 G C rs771785818 LAMB2 Nonsynonymous SNV L1258V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 17.27 123682 chr3 49163592 49163592 G A rs756535650 LAMB2 Synonymous SNV L718L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.949 123683 chr3 49457761 49457761 C T rs145194293 AMT Synonymous SNV L62L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.64 123684 chr3 49662413 49662413 C T rs756887221 BSN Nonsynonymous SNV S77F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.57 123685 chr11 68825103 68825103 G A rs79490424 TPCN2 Nonsynonymous SNV V163M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 123686 chr12 88436675 88436675 A G rs376903733 C12orf29 Synonymous SNV L94L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.797 123687 chr3 15626830 15626830 T C rs748535962 HACL1 Nonsynonymous SNV Y133C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 123688 chr12 67701184 67701184 A G rs761590463 CAND1 Synonymous SNV S979S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 11.32 123689 chr9 131669918 131669918 A G LRRC8A Nonsynonymous SNV I159V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 123690 chr3 19975183 19975183 C G rs369973419 EFHB Nonsynonymous SNV G110R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 123691 chr15 43748968 43748968 T C rs767229618 TP53BP1 Nonsynonymous SNV E613G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 123692 chr11 67926027 67926027 G C rs187695236 KMT5B Nonsynonymous SNV Q424E 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 6.487 123693 chr11 68030026 68030026 G A rs187856047 C11orf24 Nonsynonymous SNV A146V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.59 123694 chr3 52327030 52327030 A G rs767047161 GLYCTK Nonsynonymous SNV N487S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 19.82 123695 chr15 45386399 45386399 G A DUOX2 Synonymous SNV L1532L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 123696 chr14 105612807 105612807 C T rs754709264 JAG2 Nonsynonymous SNV R837Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.199 123697 chr11 68213980 68213980 C T rs200624778 LRP5 Nonsynonymous SNV P941L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 32 123698 chr14 105964243 105964243 C T rs782433439 TEDC1 Nonsynonymous SNV R261W 0.002 0 0 0 2 0 0 0 0 0 0 0 15.41 123699 chr12 9333657 9333657 C T rs747290746 PZP Synonymous SNV P587P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 123700 chr9 133989973 133989973 T C rs146896674 AIF1L Nonsynonymous SNV M57T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 25.3 123701 chr15 48053175 48053175 G A rs535377803 SEMA6D Synonymous SNV R74R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.66 123702 chr12 91348310 91348310 C T rs138371183 CCER1 Synonymous SNV Q70Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.467 123703 chr11 73371825 73371825 T C rs776582989 PLEKHB1 Nonsynonymous SNV Y121H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 123704 chr9 134463374 134463374 C T rs186725842 RAPGEF1 Synonymous SNV A862A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.14 123705 chr12 94975709 94975709 C T rs144630569 TMCC3 Synonymous SNV E197E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 123706 chr12 95397391 95397391 G C rs141719682 NDUFA12 Synonymous SNV G22G 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Likely benign 6.668 123707 chr12 96312655 96312655 G A rs200597928 CCDC38 Nonsynonymous SNV T46M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.75 123708 chr13 100518535 100518535 C T rs768355763 CLYBL Nonsynonymous SNV R226W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 123709 chr3 57312766 57312766 T G ASB14 Nonsynonymous SNV K72T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 123710 chr15 55970131 55970131 T G rs576678146 PRTG Synonymous SNV S415S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 2.78 123711 chr11 76823690 76823690 C T rs782178755 CAPN5 Nonsynonymous SNV A118V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 123712 chr9 136291428 136291428 G A rs782305581 ADAMTS13 Nonsynonymous SNV D217N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 123713 chr11 78565308 78565308 G A rs932746364 TENM4 Nonsynonymous SNV R508W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 123714 chr13 103701672 103701672 A G rs71640248 SLC10A2 Nonsynonymous SNV F296L 0.006 0 0.003 0 7 0 0 1 0 0 0 0 Benign 24.1 123715 chr13 108518687 108518695 CTGCTGCTG - rs773237379 FAM155A Q84_Q86del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 123716 chr15 62199572 62199572 A G rs201446031 VPS13C Nonsynonymous SNV M2956T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 8.582 123717 chr3 69230413 69230413 C T rs561236089 FRMD4B Nonsynonymous SNV E830K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 123718 chr9 138678253 138678253 G A rs138421850 KCNT1 Nonsynonymous SNV A1085T 0.005 0.01 0.014 1 6 4 0.003 4 0 0 0 0 Benign/Likely benign 1.768 123719 chr15 64050467 64050467 A G rs61751110 HERC1 Synonymous SNV V376V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 8.378 123720 chr3 86010623 86010623 G C rs775119535 CADM2 Nonsynonymous SNV E257Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.18 123721 chr9 139643258 139643258 C T rs1360881 LOC100128593 0 0 0.02 0 0 0 0 6 0 0 2 0 2.787 123722 chr9 139643273 139643273 C T rs10870118 LOC100128593 0 0 0.017 0 0 0 0 5 0 0 2 0 4.998 123723 chr9 139643543 139643543 T C rs10283881 LOC100128593 0 0 0.007 0 0 0 0 2 0 0 1 0 1.374 123724 chr9 139700913 139700913 G A rs368317824 CCDC183-AS1 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.335 123725 chr13 114058944 114058944 - TGTCCCTGAGCC LOC101928841 G1186_H1187insQAQG 0.001 0 0 0 1 0 0 0 0 0 0 0 123726 chr14 20869727 20869727 C T rs150026634 TEP1 Nonsynonymous SNV G319D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.048 123727 chr14 20897183 20897183 C T rs188099735 KLHL33 Nonsynonymous SNV R476H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.69 123728 chr15 66198447 66198447 A G rs760916787 MEGF11 Nonsynonymous SNV Y915H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 123729 chr9 139864341 139864341 A G rs2386136 LINC02692 0 0 0.02 0 0 0 0 6 0 0 3 0 0.001 123730 chr3 105421032 105421032 C G rs41302192 CBLB Nonsynonymous SNV S573T 0.004 0.003 0.017 1 5 1 0.003 5 1 0 0 0 Benign 5.998 123731 chr3 107435471 107435471 C T rs150018279 BBX Synonymous SNV A60A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 15.1 123732 chr13 114325865 114325865 C T rs777407847 GRK1 Synonymous SNV R293R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 123733 chr13 19751579 19751579 C T rs147699887 TUBA3C Nonsynonymous SNV V182M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 123734 chr15 68503637 68503637 A G CLN6 Nonsynonymous SNV L169P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.3 123735 chr14 21560727 21560727 G A rs79837221 ZNF219 Synonymous SNV V243V 0.018 0.018 0.01 8 21 7 0.021 3 0 0 0 0 3.765 123736 chr15 69560923 69560923 C G rs148965152 GLCE Synonymous SNV T141T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.311 123737 chr15 71125276 71125276 C T rs770505926 LARP6 Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 123738 chr15 72037495 72037495 G T rs28691775 THSD4 Nonsynonymous SNV A293S 0.009 0.003 0.02 1 11 1 0.003 6 0 0 0 0 23.9 123739 chr9 140441816 140441816 G C rs560110046 PNPLA7 Synonymous SNV A21A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.2 123740 chr9 140446806 140446806 C T rs1048370 MRPL41 Synonymous SNV L91L 0.012 0.003 0.007 3 14 1 0.008 2 0 0 0 0 9.579 123741 chr14 22138492 22138492 C T rs759544811 OR4E1 Synonymous SNV V219V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.05 123742 chr9 140468828 140468828 C T rs821314 DPH7 Nonsynonymous SNV G24R 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 8.71 123743 chr9 140611568 140611568 G A rs574514175 EHMT1 Synonymous SNV P161P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.638 123744 chr9 140637904 140637904 A G rs565065320 EHMT1 Nonsynonymous SNV K271R 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 123745 chr13 109672224 109672224 G A rs775854382 MYO16 Nonsynonymous SNV G921S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 20.4 123746 chr3 112648296 112648296 G A rs560630785 CD200R1 Synonymous SNV I64I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.857 123747 chr3 112713992 112713992 A G rs148441248 GTPBP8 Nonsynonymous SNV K116R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 18.97 123748 chr11 9771457 9771457 C T rs61751344 SWAP70 Synonymous SNV F508F 0.006 0.013 0.017 4 7 5 0.01 5 0 0 0 0 14.11 123749 chr15 74277145 74277145 C T STOML1 Synonymous SNV P236P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 123750 chr14 36096362 36096362 G A rs140406088 RALGAPA1 Nonsynonymous SNV P2217L 0.016 0.026 0.01 5 19 10 0.013 3 1 0 0 0 27.5 123751 chr14 23744803 23744803 T - rs765691793 HOMEZ D545Vfs*2 0.009 0.003 0.003 6 11 1 0.015 1 0 0 0 0 123752 chr14 23744805 23744806 AT - rs750910292 HOMEZ D544Gfs*21 0.009 0.003 0.003 6 11 1 0.015 1 0 0 0 0 123753 chr13 33629212 33629212 C T rs372540823 KL Synonymous SNV I453I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 123754 chr14 24001871 24001871 G A rs780826119 ZFHX2 Nonsynonymous SNV R822C 0.006 0.003 0 6 7 1 0.015 0 0 0 0 0 33 123755 chr15 78472005 78472005 T A ACSBG1 Synonymous SNV A453A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.651 123756 chr9 21278400 21278400 C T rs148310510 IFNA22P 0 0 0.024 0 0 0 0 7 0 0 0 0 6.101 123757 chr9 22447493 22447493 C T DMRTA1 Synonymous SNV R143R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 123758 chr11 93417220 93417220 T G CEP295 Nonsynonymous SNV M347R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 123759 chr13 39596521 39596521 T C PROSER1 Synonymous SNV P202P 0.003 0 0 0 4 0 0 0 0 0 0 0 6.986 123760 chr14 50100640 50100640 A G rs746189091 DNAAF2 Nonsynonymous SNV S410P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 2.419 123761 chr15 79748965 79748965 G A rs375072007 MINAR1 Nonsynonymous SNV R159Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.5 123762 chr13 41768355 41768355 G T rs145321458 KBTBD7 Synonymous SNV L13L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.76 123763 chr9 32630113 32630113 T A TAF1L Nonsynonymous SNV D1822V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 123764 chr13 41948906 41948906 G A rs769714684 NAA16 Synonymous SNV K776K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 14.06 123765 chr14 33004981 33004981 T C AKAP6 Synonymous SNV I182I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.362 123766 chr14 51378497 51378497 C T rs140296036 PYGL Synonymous SNV K606K 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Uncertain significance 18.49 123767 chr9 35092411 35092411 C G rs76932500 PIGO Synonymous SNV L491L 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 Benign/Likely benign 0.002 123768 chr14 35550468 35550468 T - rs562184528 LOC101927178 0.009 0.003 0.007 3 10 1 0.008 2 0 0 0 0 123769 chr9 35706488 35706488 C T rs544636956 TLN1 Nonsynonymous SNV A1717T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 123770 chr12 109182259 109182259 G A rs781181561 SSH1 Synonymous SNV A885A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.835 123771 chr9 35707483 35707483 C T rs56139047 TLN1 Synonymous SNV A1545A 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Benign 0.174 123772 chr13 46119074 46119074 G A rs7327901 ERICH6B Nonsynonymous SNV R565C 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 3.206 123773 chr14 52905981 52905981 A G rs903646885 TXNDC16 Nonsynonymous SNV I707T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.976 123774 chr12 109623507 109623507 G A rs376760625 ACACB Nonsynonymous SNV V648I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 123775 chr13 50205073 50205073 G A rs146850453 ARL11 Nonsynonymous SNV E164K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123776 chr12 102079394 102079394 C T rs762294682 MYBPC1 Nonsynonymous SNV A1169V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 123777 chr9 5462841 5462841 C T rs561746087 CD274 Synonymous SNV Y20Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.137 123778 chr12 104490166 104490166 G A rs750269283 HCFC2 Synonymous SNV T565T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 123779 chr14 59105082 59105082 G A rs879503 DACT1 Synonymous SNV G54G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.22 123780 chr14 59113231 59113231 G T rs201251394 DACT1 Nonsynonymous SNV K593N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.69 123781 chr9 73213359 73213359 C T rs34054081 TRPM3 Synonymous SNV P986P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 15.93 123782 chr9 75369715 75369715 T C rs749608265 TMC1 Nonsynonymous SNV L219S 0 0 0.003 0 0 0 0 1 0 0 0 0 11 123783 chr13 72147624 72147624 C T rs755369884 DACH1 Nonsynonymous SNV R403H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.885 123784 chr12 108685995 108685995 G A rs201809939 CMKLR1 Nonsynonymous SNV R249C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 123785 chr15 89738576 89738576 C T rs147741950 ABHD2 Synonymous SNV Y400Y 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 Benign 10.87 123786 chr3 127778979 127778979 C T rs759229311 SEC61A1 Synonymous SNV I129I 0.001 0.01 0 0 1 4 0 0 0 0 0 0 16.87 123787 chr15 89876833 89876833 - TGC POLG Q55_P56insQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 123788 chr15 90174856 90174856 T C rs138410949 KIF7 Nonsynonymous SNV Q994R 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.01 123789 chr9 79635029 79635029 C T rs376736596 FOXB2 Synonymous SNV A153A 0.003 0.01 0.007 0 3 4 0 2 0 0 0 0 15.37 123790 chr9 79840851 79840851 A G VPS13A Nonsynonymous SNV K391E 0 0 0.003 0 0 0 0 1 0 0 0 0 26 123791 chr14 58698938 58698938 G A rs554639681 ACTR10 Nonsynonymous SNV R342Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 123792 chr12 118472031 118472031 C T rs770916551 WSB2 Nonsynonymous SNV M185I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 123793 chr14 68042565 68042565 G A rs146068447 PLEKHH1 Nonsynonymous SNV R732Q 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 19.35 123794 chr14 69077792 69077792 C G rs575962752 RAD51B Nonsynonymous SNV P369R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.23 123795 chr14 102548079 102548079 G A rs61999351 HSP90AA1 Synonymous SNV D723D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 123796 chr14 102798137 102798137 C T rs373962634 ZNF839 Nonsynonymous SNV A341V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.064 123797 chr12 123334442 123334442 C T rs35465127 HIP1R Synonymous SNV Y126Y 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 14.77 123798 chr12 113515734 113515734 C T rs867502723 DTX1 Synonymous SNV G255G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.81 123799 chr12 113593164 113593164 C T CFAP73 Stop gain Q264X 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 36 123800 chr3 141328783 141328783 T C RASA2 Synonymous SNV F799F 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 5.602 123801 chr14 65253804 65253804 C T SPTB Nonsynonymous SNV C960Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.305 123802 chr3 142841179 142841179 C T rs140896167 CHST2 Synonymous SNV G507G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.866 123803 chr13 52548174 52548174 C G rs201874048 ATP7B Nonsynonymous SNV L394F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 23.2 123804 chr14 105405243 105405243 C T rs200712744 AHNAK2 Synonymous SNV S5415S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.05 123805 chr16 1370188 1370188 A G rs142940542 UBE2I Synonymous SNV P79P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 15.06 123806 chr14 105407770 105407770 T A rs201648026 AHNAK2 Nonsynonymous SNV H4573L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 123807 chr3 154024057 154024057 C A DHX36 Nonsynonymous SNV A281S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 123808 chr12 133146636 133146636 G A rs373715873 FBRSL1 Synonymous SNV A272A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.034 123809 chrX 153036078 153036078 C T rs147973343 PLXNB3 Nonsynonymous SNV T664I 0.009 0.01 0.007 4 10 4 0.01 2 2 1 1 1 Benign 10.68 123810 chr14 92905746 92905746 T C SLC24A4 Nonsynonymous SNV I129T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 123811 chr12 13716192 13716192 T C rs780293991 GRIN2B Nonsynonymous SNV K1327R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 123812 chr14 20898543 20898543 G A KLHL33 Nonsynonymous SNV L98F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 123813 chrX 153208348 153208348 G A rs781986396 RENBP Synonymous SNV L216L 0.003 0 0.007 0 3 0 0 2 1 0 1 0 3.921 123814 chrX 34148689 34148689 G T rs191524414 FAM47A Nonsynonymous SNV F569L 0.001 0 0.007 3 1 0 0.008 2 0 0 1 1 7.557 123815 chr14 91739805 91739805 C T rs142295786 CCDC88C Nonsynonymous SNV V1751I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.2 123816 chr14 23445671 23445671 C A AJUBA Nonsynonymous SNV L411F 0.003 0 0 0 3 0 0 0 0 0 0 0 28.6 123817 chrX 64771210 64771210 C T rs780675148 FRMD8P1 0 0 0.007 0 0 0 0 2 0 0 1 0 4.394 123818 chrX 73043413 73043413 C T rs899652197 TSIX, XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 9.23 123819 chr16 24826599 24826599 G A rs148426730 TNRC6A Nonsynonymous SNV G1553S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.2 123820 chr12 27950855 27950855 C A rs377416479 KLHL42 Nonsynonymous SNV T425N 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 26.7 123821 chr3 132061443 132061443 C A ACP3 Nonsynonymous SNV D168E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.45 123822 chr14 23994285 23994285 G A rs61995702 ZFHX2 Synonymous SNV D1622D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.605 123823 chr12 309889 309889 C A rs201531420 SLC6A12 Synonymous SNV L213L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.97 123824 chr10 101089168 101089168 A C rs562038974 CNNM1 Synonymous SNV A8A 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 0.011 123825 chr10 101162416 101162416 T G GOT1 Synonymous SNV R341R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.741 123826 chr12 133428319 133428319 G A rs146976267 CHFR Synonymous SNV V379V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 3.229 123827 chr14 24801794 24801794 C T rs749578748 ADCY4 Synonymous SNV S151S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.94 123828 chr14 21502347 21502347 G C rs776919127 RNASE13 Nonsynonymous SNV T34S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 123829 chr14 21762845 21762845 T A rs200510462 RPGRIP1 Nonsynonymous SNV M32K 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.97 123830 chr15 33916136 33916136 G A rs199500216 RYR3 Nonsynonymous SNV R829H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 24.2 123831 chr14 21936855 21936855 T G rs572046654 RAB2B Synonymous SNV G35G 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 9.231 123832 chr10 103826266 103826266 G A rs374860183 HPS6 Synonymous SNV R345R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.199 123833 chr14 33015706 33015706 G C AKAP6 Nonsynonymous SNV R616T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.447 123834 chr14 36982447 36982447 C G rs187547478 SFTA3 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.88 123835 chr14 36988709 36988709 G A NKX2-1-AS1, SFTA3 0.002 0 0 0 2 0 0 0 0 0 0 0 14.43 123836 chr14 33293523 33293523 G A rs144838103 AKAP6 Synonymous SNV E2168E 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Benign 6.952 123837 chr14 38061020 38061020 C T rs911805778 FOXA1 Synonymous SNV A323A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.18 123838 chr12 48238710 48238710 C A rs376903517 VDR Nonsynonymous SNV R368L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 123839 chr10 105147408 105147408 C T rs999114321 TAF5 Nonsynonymous SNV T658I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 123840 chr15 36872159 36872159 C T rs188412916 C15orf41 Nonsynonymous SNV P33L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123841 chr15 25924747 25924747 - TGGACTCCTCAGGACACCCTCC ATP10A Stop gain K1414Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 123842 chr3 196388173 196388173 G A rs367610850 NRROS Synonymous SNV R553R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.369 123843 chr14 50792364 50792364 G A rs368725017 DMAC2L Nonsynonymous SNV V176I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.282 123844 chr16 3640415 3640415 G C rs147558074 SLX4 Nonsynonymous SNV S1075C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 123845 chr4 862366 862366 C T rs145911873 GAK Nonsynonymous SNV A707T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.234 123846 chr14 51560905 51560905 C T TRIM9 Synonymous SNV Q251Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.08 123847 chr15 41146693 41146693 G A rs200901498 SPINT1 Nonsynonymous SNV A347T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 123848 chr15 39877710 39877710 A G THBS1 Nonsynonymous SNV M356V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.375 123849 chr16 4621603 4621603 A C rs376409573 C16orf96 Synonymous SNV A154A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.011 123850 chr12 32134428 32134428 A G rs777279236 RESF1 Nonsynonymous SNV Y180C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.6 123851 chr15 40629995 40629995 G A rs149438052 CCDC9B Nonsynonymous SNV R249C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123852 chr15 42172506 42172506 C A rs768235905 SPTBN5 Nonsynonymous SNV R888L 0.003 0 0 0 3 0 0 0 0 0 0 0 24 123853 chr14 56117065 56117065 A G rs45460501 KTN1 Nonsynonymous SNV K809E 0.001 0 0 0 1 0 0 0 0 0 0 0 24 123854 chr10 120819152 120819152 G A rs770069171 EIF3A Nonsynonymous SNV R469W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.8 123855 chr12 52652088 52652088 C T rs74093386 KRT87P 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 19.16 123856 chr12 52680172 52680172 G A rs74095618 KRT81 Nonsynonymous SNV A462V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.31 123857 chr12 52711741 52711743 CTT - rs149269323 KRT83 E202del 0.001 0 0 0 1 0 0 0 0 0 0 0 123858 chr12 52715053 52715053 A C rs61485872 KRT83 Nonsynonymous SNV C23G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.189 123859 chr12 52756665 52756665 C T rs1621938 KRT85 Synonymous SNV T138T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.36 123860 chr10 121598077 121598077 G A rs774798925 MCMBP Nonsynonymous SNV L460F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.3 123861 chr12 52761043 52761043 C T rs1732275 KRT85 Synonymous SNV T49T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 123862 chr10 122357655 122357655 T - rs5788431 LINC01561 0 0 0.167 0 0 0 0 49 0 0 8 0 123863 chr10 122357724 122357724 T C rs41287952 LINC01561 0 0 0.092 0 0 0 0 27 0 0 2 0 1.922 123864 chr12 52777536 52777536 C T rs1732301 KRT84 Nonsynonymous SNV S198N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 123865 chr15 41337197 41337197 C T rs145596172 INO80 Nonsynonymous SNV E938K 0.006 0 0 0 7 0 0 0 0 0 0 0 21.3 123866 chr15 41337207 41337207 C T rs147716164 INO80 Synonymous SNV A934A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.79 123867 chr12 43826543 43826543 C A ADAMTS20 Nonsynonymous SNV C931F 0 0.005 0 2 0 2 0.005 0 0 0 0 0 31 123868 chr12 52910895 52910895 T C rs746940114 KRT5 Nonsynonymous SNV K405R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 123869 chr14 64153339 64153339 G A rs143514270 SGPP1 Synonymous SNV I270I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.28 123870 chr12 44913891 44913891 C T rs779433988 NELL2 Nonsynonymous SNV R766H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 24.2 123871 chr10 124909461 124909461 C T rs138544531 HMX2 Nonsynonymous SNV A215V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 123872 chr14 64518326 64518326 A C rs373434720 SYNE2 Synonymous SNV A2565A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 123873 chr10 12595329 12595329 A G rs34194224 CAMK1D Nonsynonymous SNV I66M 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 13.38 123874 chr10 126490406 126490406 C T ABRAXAS2 Nonsynonymous SNV A3V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 123875 chr15 42727660 42727660 C G rs141371905 ZNF106 Synonymous SNV L763L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.97 123876 chr12 48151827 48151830 CCCA - rs577376634 RAPGEF3 V13Afs*32 0.004 0.008 0 0 5 3 0 0 0 0 0 0 123877 chr10 13152393 13152393 C T rs181141625 OPTN Nonsynonymous SNV R96C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 123878 chr14 69358971 69358971 C T rs139710798 ACTN1 Synonymous SNV P295P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 123879 chr14 69792727 69792727 G A rs138742665 GALNT16 Nonsynonymous SNV R184H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 123880 chr15 55489036 55489036 C T RSL24D1 Nonsynonymous SNV G18D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 123881 chr16 58030735 58030735 C T rs764030023 ZNF319 Nonsynonymous SNV D479N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.3 123882 chr16 58030889 58030889 G A rs150708188 ZNF319 Synonymous SNV P427P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.271 123883 chr12 53452530 53452530 G A rs761101360 TNS2 Nonsynonymous SNV V452I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 123884 chr14 69814669 69814669 C T rs59840366 GALNT16 Nonsynonymous SNV P497S 0.003 0 0 0 4 0 0 0 1 0 0 0 13.22 123885 chr10 134021592 134021592 C T rs576496493 STK32C Synonymous SNV A474A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 123886 chr14 70252896 70252896 G A SLC10A1 Nonsynonymous SNV S162L 0.002 0 0 0 2 0 0 0 0 0 0 0 25 123887 chr10 134261358 134261358 A G rs751657042 C10orf91 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 123888 chr14 71413782 71413782 C G rs138566336 PCNX1 Nonsynonymous SNV R102G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.905 123889 chr14 73719455 73719455 A C rs17126331 PAPLN Nonsynonymous SNV N356H 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 23.3 123890 chr14 74961658 74961658 A C rs774113898 ISCA2 Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.061 123891 chr16 66514696 66514696 C T rs146144419 BEAN1 Synonymous SNV Y107Y 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 7.633 123892 chr15 51757029 51757029 A C rs181821317 DMXL2 Nonsynonymous SNV L1914V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.3 123893 chr4 20736353 20736353 G A rs377521011 KCNIP4 Synonymous SNV F91F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.6 123894 chr15 65157716 65157716 G T rs201537761 PLEKHO2 Nonsynonymous SNV D318Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 123895 chr15 52416812 52416812 T C rs778276209 GNB5 Nonsynonymous SNV N303S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.5 123896 chr14 77705764 77705764 T C rs17750422 TMEM63C Synonymous SNV Y245Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.068 123897 chr14 75537668 75537668 A T rs188211407 ZC2HC1C Nonsynonymous SNV K131I 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.1 123898 chr12 52404677 52404677 G A rs149650071 GRASP Synonymous SNV T103T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 123899 chr4 437790 437790 T C ZNF721 Nonsynonymous SNV K156E 0.002 0 0 5 2 0 0.013 0 0 0 0 0 0.32 123900 chr12 56755844 56755844 A G rs201004412 APOF Nonsynonymous SNV F49S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.325 123901 chr16 70513196 70513196 C A rs191210378 FCSK Nonsynonymous SNV H1015N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 19.94 123902 chr14 68249672 68249672 G A rs35018134 ZFYVE26 Synonymous SNV T1399T 0.003 0.003 0.007 5 3 1 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 123903 chr16 70711758 70711758 G A rs201374581 MTSS2 Synonymous SNV G223G 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.43 123904 chr12 57431653 57431653 C T rs147147276 MYO1A Nonsynonymous SNV R654Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 123905 chr14 88477382 88477382 C T GPR65 Nonsynonymous SNV A64V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.951 123906 chr15 70963392 70963392 T C rs150049035 UACA Nonsynonymous SNV M390V 0.012 0.003 0.003 2 14 1 0.005 1 0 0 0 0 0.04 123907 chr10 24833948 24833948 C G rs145794379 KIAA1217 Synonymous SNV V834V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.872 123908 chr12 53291389 53291389 C T rs372829377 KRT8 Synonymous SNV S425S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 123909 chr12 58020596 58020596 G A rs368931577 B4GALNT1 Synonymous SNV D456D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.222 123910 chr12 58160781 58160781 A G CYP27B1 Nonsynonymous SNV V15A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 123911 chr12 53456963 53456963 G A rs369770934 TNS2 Nonsynonymous SNV C1315Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.41 123912 chr15 65147181 65147181 G A rs149641512 PLEKHO2 Nonsynonymous SNV R25H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 123913 chr14 92624096 92624096 C T rs367556675 CPSF2 Synonymous SNV I512I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.18 123914 chr4 3174845 3174845 A C rs3025837 HTT Nonsynonymous SNV N1385H 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 13.79 123915 chr4 3213715 3213715 T C rs140124504 HTT Synonymous SNV G2158G 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 6.409 123916 chr15 65622915 65622915 C T rs746790782 IGDCC3 Nonsynonymous SNV V576I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.07 123917 chr12 64891037 64891037 G C rs144370662 TBK1 Nonsynonymous SNV E653Q 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Uncertain significance 11.41 123918 chr14 93178025 93178025 G A rs142387609 LGMN Synonymous SNV H266H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.49 123919 chr4 3225764 3225764 G A rs138489139 HTT Synonymous SNV E2557E 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 12.7 123920 chr4 48583548 48583548 A G FRYL Synonymous SNV V687V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.121 123921 chr4 3319366 3319366 A G rs147416450 RGS12 Nonsynonymous SNV H490R 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.001 123922 chr4 3444477 3444477 G C rs148006288 HGFAC Nonsynonymous SNV E46Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 4.398 123923 chr12 54757609 54757626 GAAGTTGGCGTCAGAGCT - rs775538642 GPR84 S5_S10del 0 0.003 0 0 0 1 0 0 0 0 0 0 123924 chr12 66641888 66641888 A T IRAK3 Synonymous SNV P515P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 123925 chr4 3449315 3449315 G A rs141802412 HGFAC Synonymous SNV P484P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 5.05 123926 chr4 3449758 3449758 T C rs75531905 HGFAC Synonymous SNV D544D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.005 123927 chr15 79339125 79339125 T C RASGRF1 Nonsynonymous SNV I281V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 123928 chr10 44340783 44340783 - C rs113953295 LINC00619 0 0 0.051 0 0 0 0 15 0 0 1 0 123929 chr14 96752219 96752219 G A rs149927045 ATG2B Nonsynonymous SNV P2037L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 34 123930 chr14 77580482 77580482 C G rs747608007 CIPC Nonsynonymous SNV R341G 0 0 0 5 0 0 0.013 0 0 0 0 0 32 123931 chr10 46965755 46965755 C T rs201248430 LOC102724488, SYT15 Nonsynonymous SNV R145Q 0.012 0.008 0.007 3 14 3 0.008 2 0 0 0 0 8.107 123932 chr15 100252757 100252757 G C MEF2A Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 123933 chr15 100252758 100252758 C G MEF2A Nonsynonymous SNV Q358E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 123934 chr14 78399617 78399617 - T ADCK1 Stop gain E381* 0.001 0 0 6 1 0 0.015 0 0 0 0 0 123935 chr15 74180819 74180819 G A rs767678357 TBC1D21 Nonsynonymous SNV A279T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 123936 chr14 88407872 88407872 G A GALC Synonymous SNV Y544Y 0.001 0 0 5 1 0 0.013 0 0 0 0 0 6.386 123937 chr16 82034460 82034460 C T rs117851671 SDR42E1 Nonsynonymous SNV D2N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 123938 chr12 57397876 57397876 A G rs117805856 ZBTB39 Nonsynonymous SNV C276R 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 21.8 123939 chr15 85447344 85447344 G A SLC28A1 Nonsynonymous SNV A160T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 123940 chr15 76726527 76726527 C T rs754045128 SCAPER Nonsynonymous SNV R822Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 123941 chr12 57626290 57626290 C T rs747827761 SHMT2 Nonsynonymous SNV R207W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 123942 chr15 87089307 87089307 G A rs61744083 AGBL1 Synonymous SNV L920L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 123943 chr15 87099481 87099481 A G rs8027697 AGBL1 Nonsynonymous SNV K1008E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.91 123944 chr12 79986414 79986414 C T rs747675021 PAWR Synonymous SNV L332L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 123945 chr15 80855535 80855535 A G ARNT2 Nonsynonymous SNV Y424C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 123946 chr14 94750361 94750361 C T rs145648775 SERPINA10 Nonsynonymous SNV E426K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.9 123947 chr16 84529358 84529360 CTC - rs200260198 MEAK7 E105del 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 123948 chr16 84691195 84691195 C T rs138164943 KLHL36 Nonsynonymous SNV A261V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 21 123949 chr15 33445948 33445948 G A rs144328486 FMN1 Nonsynonymous SNV R390W 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 24.7 123950 chr12 86272290 86272290 G T rs138520790 NTS Nonsynonymous SNV M101I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.5 123951 chr15 35045507 35045507 G A rs36084466 GJD2 Synonymous SNV Y46Y 0.003 0 0 0 4 0 0 0 0 0 0 0 2.235 123952 chr15 34651434 34651434 G C rs138378733 LPCAT4 Nonsynonymous SNV P490R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.2 123953 chr15 39880277 39880277 G T rs35275624 THBS1 Synonymous SNV P443P 0.004 0 0 0 5 0 0 0 0 0 0 0 11.55 123954 chr15 85669569 85669569 G A rs145794013 PDE8A Synonymous SNV E693E 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 9.986 123955 chr15 40558610 40558610 C G rs143324236 BUB1B-PAK6, PAK6 Nonsynonymous SNV R258G 0.006 0 0 0 7 0 0 0 0 0 0 0 17.44 123956 chr10 69565413 69565413 C A rs74142901 DNAJC12 Nonsynonymous SNV A144S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.836 123957 chr12 6976707 6976707 C G rs781876590 TPI1 Nonsynonymous SNV L30V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 123958 chr15 86311910 86311910 G A rs753026649 KLHL25 Nonsynonymous SNV R378C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 123959 chr15 40901074 40901074 C T rs201818761 KNL1 Synonymous SNV N55N 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 123960 chr4 84376741 84376741 G A rs138939487 HELQ Nonsynonymous SNV P36S 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Benign 0.533 123961 chr15 41032380 41032382 CTT - rs754228881 RMDN3 E307del 0.001 0 0 0 1 0 0 0 0 0 0 0 123962 chr15 91337424 91337424 G A BLM Nonsynonymous SNV R1016K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.774 123963 chr15 41191521 41191521 A G rs142111685 VPS18 Nonsynonymous SNV I169V 0.006 0 0 0 7 0 0 0 0 0 0 0 23.3 123964 chr12 7456991 7456991 C T rs201167706 ACSM4 Nonsynonymous SNV R22C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.63 123965 chr4 88412026 88412026 A G rs749867653 SPARCL1 Synonymous SNV S307S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.858 123966 chr12 99093210 99093210 G A rs138526583 APAF1 Nonsynonymous SNV E766K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.8 123967 chr10 72503933 72503933 T C ADAMTS14 Nonsynonymous SNV S724P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 123968 chr15 42149481 42149481 C T SPTBN5 Nonsynonymous SNV C2859Y 0.006 0 0 0 7 0 0 0 0 0 0 0 12.47 123969 chr4 42041046 42041046 A G SLC30A9 Nonsynonymous SNV K238R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.4 123970 chr16 9858211 9858211 T C rs138809301 GRIN2A Nonsynonymous SNV T1064A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.002 123971 chr4 96124050 96124050 G A rs749587753 UNC5C Synonymous SNV A656A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.23 123972 chr17 10215933 10215933 G A rs779258921 MYH13 Synonymous SNV T1441T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.844 123973 chr15 42980842 42980842 T A STARD9 Nonsynonymous SNV S2356T 0.006 0 0 0 7 0 0 0 0 0 0 0 24.7 123974 chr16 11852303 11852303 G A rs201993135 ZC3H7A Synonymous SNV Y804Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.929 123975 chr17 10399824 10399824 G A rs765532005 MYH1 Nonsynonymous SNV L1567F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 123976 chr16 1204007 1204007 C G rs577235589 CACNA1H Synonymous SNV R90R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 9.374 123977 chr10 76735771 76735771 A C KAT6B Nonsynonymous SNV K559T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 123978 chr15 43531121 43531121 C T rs181083834 TGM5 Synonymous SNV E331E 0.003 0 0 0 3 0 0 0 1 0 0 0 Uncertain significance 9.893 123979 chr15 43569097 43569097 C T rs146833656 TGM7 Nonsynonymous SNV E646K 0.008 0 0.003 0 9 0 0 1 0 0 0 0 32 123980 chr15 43818115 43818115 G A rs145659671 MAP1A Nonsynonymous SNV D1482N 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 22.3 123981 chr12 90020385 90020385 G T rs11105347 ATP2B1 Synonymous SNV A138A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 9.388 123982 chr16 1395257 1395257 C T rs145807489 BAIAP3 Nonsynonymous SNV R614C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 123983 chr15 99192755 99192764 TTTTTTTTTT - IRAIN 0.002 0 0.003 0 2 0 0 1 0 0 0 0 123984 chr10 85997040 85997040 G A LRIT1 Synonymous SNV I175I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.66 123985 chr16 15718648 15718648 C T rs370385036 MARF1 Nonsynonymous SNV A749T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.086 123986 chr15 45392382 45392382 T C rs79393107 DUOX2 Nonsynonymous SNV E1017G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 28.1 123987 chr4 108575900 108575900 C T rs201998934 PAPSS1 Nonsynonymous SNV R351H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 123988 chr4 109088967 109088967 G C rs200668771 LEF1-AS1 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 11.53 123989 chr15 50836794 50836794 C T rs746237882 USP50 Nonsynonymous SNV A80T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.1 123990 chr16 10524491 10524491 A G rs373384888 ATF7IP2 Nonsynonymous SNV D5G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.4 123991 chr15 45442896 45442896 T C rs16939743 DUOX1 Nonsynonymous SNV I962T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.505 123992 chr15 50906451 50906451 G T TRPM7 Nonsynonymous SNV P502T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.7 123993 chr15 45556163 45556163 T C rs8023604 SLC28A2 Synonymous SNV F177F 0.004 0.003 0.017 1 5 1 0.003 5 0 0 0 0 2.845 123994 chr15 45694768 45694768 G T rs1834686 SPATA5L1 Synonymous SNV V47V 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 7.591 123995 chr12 9346789 9346789 A T rs140050885 PZP Nonsynonymous SNV F380I 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 0.116 123996 chr15 45694983 45694983 G C rs1153850 SPATA5L1 Nonsynonymous SNV R119P 0.004 0.003 0.017 2 5 1 0.005 5 0 0 0 0 0.002 123997 chr15 45695341 45695341 C A rs2467852 SPATA5L1 Synonymous SNV L238L 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 14.77 123998 chr15 45695612 45695612 C T rs1346265 SPATA5L1 Synonymous SNV L329L 0.004 0.003 0.017 2 5 1 0.005 5 0 0 0 0 12.93 123999 chr12 94653394 94653394 C T rs2230758 PLXNC1 Synonymous SNV D1045D 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 11.94 124000 chr4 113436466 113436466 C G rs200923931 NEUROG2 Nonsynonymous SNV G56R 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 12.03 124001 chr15 50793009 50793009 C G rs75814199 USP50 Nonsynonymous SNV G321A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.3 124002 chr17 18219832 18219832 C T SMCR8 Synonymous SNV I243I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.975 124003 chr10 99361684 99361684 C T rs550989147 HOGA1 Synonymous SNV C94C 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 11.79 124004 chr15 56756244 56756244 T C rs375671258 MNS1 Nonsynonymous SNV M69V 0.003 0 0 0 3 0 0 0 0 0 0 0 15.02 124005 chr16 1827422 1827422 C T SPSB3 Synonymous SNV Q248Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 124006 chr4 87643512 87643512 G A rs367726205 PTPN13 Synonymous SNV A511A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.563 124007 chr13 39447042 39447042 T C rs144236455 FREM2 Nonsynonymous SNV I2716T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 124008 chr15 67495193 67495193 T C AAGAB Nonsynonymous SNV E196G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 124009 chr16 27231905 27231905 G T rs150252517 KDM8 Nonsynonymous SNV D407Y 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 24.4 124010 chr4 144617306 144617306 A C FREM3 Nonsynonymous SNV M1508R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.21 124011 chr15 67813976 67813976 C T rs145898297 IQCH-AS1 0.003 0 0.01 4 3 0 0.01 3 0 0 0 0 9.673 124012 chr4 148800424 148800424 A G rs375034312 ARHGAP10 Nonsynonymous SNV M292V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 124013 chr13 111642382 111642382 G A LINC00431 0 0.003 0 0 0 1 0 0 0 0 0 0 6.263 124014 chr13 113140410 113140410 C T rs748593979 TUBGCP3 Nonsynonymous SNV R864Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 124015 chr16 28914171 28914171 G A rs756620939 ATP2A1 Nonsynonymous SNV E770K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.411 124016 chr16 28925708 28925708 G A rs947884284 RABEP2 Nonsynonymous SNV S248F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 124017 chr13 46563212 46563212 T C rs1036542855 ZC3H13 Nonsynonymous SNV Q322R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 124018 chr16 20981310 20981310 G A DNAH3 Synonymous SNV N2708N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.027 124019 chr13 19748048 19748048 G A rs148222023 TUBA3C Synonymous SNV G436G 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 12.64 124020 chr17 28407223 28407223 T C rs200371847 EFCAB5 Nonsynonymous SNV L1054P 0.003 0 0 4 4 0 0.01 0 0 0 0 0 27.6 124021 chr16 2263836 2263836 C T rs116977380 PGP Nonsynonymous SNV G287R 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 13.03 124022 chr13 50587084 50587084 A G rs762859595 TRIM13 Synonymous SNV L336L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.025 124023 chr16 30964568 30964568 C T rs775674258 ORAI3 Synonymous SNV A97A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 124024 chr15 72190778 72190778 A G rs773664257 MYO9A Nonsynonymous SNV F1356L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 124025 chr17 3195777 3195777 A T rs149826123 OR3A1 Nonsynonymous SNV F34I 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 25.3 124026 chr16 24801381 24801381 A C TNRC6A Nonsynonymous SNV N473T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.11 124027 chr16 31390954 31390954 T C rs201411844 ITGAX Nonsynonymous SNV M952T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.035 124028 chr13 25842016 25842016 C G rs73168506 MTMR6 Nonsynonymous SNV V69L 0.013 0.016 0.007 5 15 6 0.013 2 0 0 0 0 9.285 124029 chr13 76370837 76370837 T C rs75729161 LMO7 Synonymous SNV H96H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.76 124030 chr16 2821524 2821524 C T rs201628798 ELOB Synonymous SNV T145T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 124031 chr15 80189305 80189305 - CGCTGCTCACCGCTGC rs765726078 MTHFS Frameshift insertion A9Gfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 124032 chr15 78294015 78294015 G A rs752086483 TBC1D2B Nonsynonymous SNV S881L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 124033 chr11 1078638 1078638 C T rs370849615 MUC2 Synonymous SNV P282P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 124034 chr15 78927872 78927872 G T CHRNB4 Nonsynonymous SNV T38N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 124035 chr17 3495618 3495618 C G rs146598604 TRPV1 Nonsynonymous SNV L9F 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.002 124036 chr14 101005562 101005562 C T rs35286207 BEGAIN Nonsynonymous SNV D176N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 25.4 124037 chr11 110327719 110327719 A G rs147778113 FDX1 Nonsynonymous SNV I130V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 4.91 124038 chr11 111156587 111156587 T G rs61753530 C11orf53 Synonymous SNV T225T 0.008 0.003 0.014 4 9 1 0.01 4 0 0 0 0 4.364 124039 chr15 83674432 83674432 G A rs78910691 C15orf40 Nonsynonymous SNV R127C 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 20.7 124040 chr17 3627619 3627619 C T rs1185511 HASPIN Synonymous SNV C130C 0.003 0.003 0.007 2 3 1 0.005 2 0 0 1 0 15.87 124041 chr15 83820007 83820007 G T HDGFL3 Nonsynonymous SNV T189K 0.001 0 0 0 1 0 0 0 0 0 0 0 24 124042 chr13 42789782 42789782 G C DGKH Nonsynonymous SNV L819F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.042 124043 chr16 31091826 31091826 C T rs771792010 ZNF646 Nonsynonymous SNV A1394V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.064 124044 chr13 44455493 44455493 T A rs9562519 LACC1 Synonymous SNV T124T 0.007 0.016 0.01 1 8 6 0.003 3 0 0 0 0 10.93 124045 chr13 45147322 45147322 G C rs113537658 TSC22D1 Synonymous SNV P963P 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 1.381 124046 chr4 187195347 187195347 G T rs121965063 F11 Stop gain E135X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Pathogenic 36 124047 chr14 104641664 104641664 C T rs745564083 KIF26A Nonsynonymous SNV R847W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124048 chr16 48245098 48245098 G - rs751299967 ABCC11 Q457Rfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 124049 chr5 447679 447679 G A rs773371140 EXOC3 Nonsynonymous SNV R59H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.1 124050 chr16 53692782 53692782 C A RPGRIP1L Stop gain E418X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 124051 chr11 118922814 118922814 T C rs118151170 HYOU1 Nonsynonymous SNV K398R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23 124052 chr14 105924671 105924671 C A rs782205170 MTA1 Synonymous SNV L205L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 124053 chr15 90294418 90294418 G A rs535670768 MESP1 Synonymous SNV L15L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.456 124054 chr16 46934689 46934689 C T rs114467444 GPT2 Synonymous SNV G43G 0.009 0.016 0 3 11 6 0.008 0 0 0 0 0 17.5 124055 chr13 98642472 98642472 C T rs35584866 IPO5 Nonsynonymous SNV P187L 0 0.003 0.01 0 0 1 0 3 0 0 0 0 26.7 124056 chr5 7875433 7875433 C A rs202110383 MTRR Nonsynonymous SNV Q116K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 22.8 124057 chr16 50324562 50324562 G A rs150007332 ADCY7 Synonymous SNV A122A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.28 124058 chr17 39577188 39577188 C A rs138529350 KRT37 Nonsynonymous SNV S431I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.01 124059 chr15 91512818 91512818 T C rs951793217 PRC1 Synonymous SNV T495T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 124060 chr5 13864557 13864557 C T rs753819192 DNAH5 Synonymous SNV K1515K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.38 124061 chr11 123886290 123886290 C T rs547870 OR10G4 Synonymous SNV N3N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.99 124062 chr16 62055125 62055125 T C CDH8 Synonymous SNV R61R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.235 124063 chr15 99901648 99901648 A G rs968667369 LRRC28 Nonsynonymous SNV D199G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 124064 chr16 65005934 65005934 G A rs141063325 CDH11 Nonsynonymous SNV A349V 0.007 0 0 2 8 0 0.005 0 0 0 0 0 Benign 17.85 124065 chr14 21216136 21216136 G A rs117028324 EDDM3A Nonsynonymous SNV V133I 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 21.9 124066 chr16 10775932 10775932 A G rs138988373 TEKT5 Nonsynonymous SNV C261R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.41 124067 chr16 10788200 10788200 C G rs148185751 TEKT5 Nonsynonymous SNV E177D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 124068 chr16 57060575 57060575 C A rs370956397 NLRC5 Nonsynonymous SNV R574S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 124069 chr14 103148302 103148302 G C rs149282076 RCOR1 Synonymous SNV L144L 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 10.19 124070 chr16 67916165 67916165 G A rs79746626 EDC4 Nonsynonymous SNV A1071T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 124071 chr16 11856531 11856531 G A rs199622419 ZC3H7A Nonsynonymous SNV A692V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 23.1 124072 chr17 4058094 4058094 C T rs144989131 CYB5D2 Nonsynonymous SNV P61L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 124073 chr16 1257334 1257334 C T rs59090452 CACNA1H Synonymous SNV S989S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.97 124074 chr16 69875991 69875991 C T rs80292286 WWP2 Synonymous SNV P65P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 16.09 124075 chr16 1391358 1391358 G A rs115052205 BAIAP3 Nonsynonymous SNV R200H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 124076 chr17 4200056 4200056 C T rs752775861 UBE2G1 Nonsynonymous SNV R68Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 124077 chr16 66651243 66651243 G A rs202098888 CMTM4 Synonymous SNV N214N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.04 124078 chr11 128556284 128556284 C T rs12418034 LOC101929538 0 0 0.031 0 0 0 0 9 0 0 0 0 9.08 124079 chr16 67223003 67223003 G A rs138207138 EXOC3L1 Nonsynonymous SNV R43W 0.007 0.008 0.003 6 8 3 0.015 1 0 0 0 1 32 124080 chr11 129755483 129755483 G A rs755833416 NFRKB Nonsynonymous SNV R176W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 124081 chr17 42429500 42429500 C T rs63750412 GRN Nonsynonymous SNV R433W 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 124082 chr16 1561083 1561083 C T rs773095902 IFT140 Synonymous SNV P1417P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.34 124083 chr16 16248879 16248879 C T rs63751325 ABCC6 Nonsynonymous SNV V1298I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely pathogenic 33 124084 chr17 4447799 4447799 G A rs200285589 MYBBP1A Nonsynonymous SNV T875M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 124085 chr16 1903268 1903268 C T rs62617828 MEIOB Nonsynonymous SNV D212N 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 Benign 26.6 124086 chr16 71509779 71509779 C T rs10500557 ZNF19 Nonsynonymous SNV R224Q 0.01 0.008 0.017 9 12 3 0.023 5 0 0 0 0 32 124087 chr16 81209232 81209232 T C rs768699215 PKD1L2 Nonsynonymous SNV Q169R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.337 124088 chr16 1996981 1996981 G A rs148725709 RPL3L Synonymous SNV A269A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 124089 chr16 2028379 2028379 G A rs368909625 TBL3 Nonsynonymous SNV V734M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 124090 chr14 31774324 31774324 C T rs61754158 HEATR5A Nonsynonymous SNV G1676R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 124091 chr16 83949076 83949076 A G rs1127368 MLYCD Synonymous SNV Q488Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 0.182 124092 chr16 72992087 72992087 C T rs753596230 ZFHX3 Nonsynonymous SNV R653H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.7 124093 chr11 17650687 17650687 T C rs770039471 OTOG Nonsynonymous SNV V2191A 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 26 124094 chr14 36986545 36986545 A T NKX2-1 Nonsynonymous SNV S352T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 124095 chr14 21623394 21623394 G A OR5AU1 Nonsynonymous SNV T213I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.93 124096 chr14 38091794 38091794 C T rs1033361358 TTC6 Synonymous SNV P191P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 124097 chr5 70791182 70791182 T C rs201955867 BDP1 Synonymous SNV N582N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 0.117 124098 chr14 38276538 38276538 G A rs776286119 TTC6 Nonsynonymous SNV R1459Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 124099 chr16 23099059 23099059 T A rs61760226 USP31 Nonsynonymous SNV T505S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 124100 chr17 4835991 4835991 T C rs201827537 GP1BA Nonsynonymous SNV V31A 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 not provided 24.6 124101 chr16 1271970 1271970 C T rs58623186 TPSG1 Nonsynonymous SNV V262M 0.002 0.003 0.003 7 2 1 0.018 1 0 0 0 0 Benign 21.6 124102 chr11 19970454 19970454 G A rs750210713 NAV2 Nonsynonymous SNV A761T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 124103 chr16 84493375 84493375 C T ATP2C2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.238 124104 chr14 23596534 23596534 C T rs150487356 SLC7A8 Nonsynonymous SNV S263N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.5 124105 chr14 50597293 50597293 G A rs769868981 SOS2 Nonsynonymous SNV T1088I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 124106 chr11 2161955 2161955 C T rs12807478 IGF2-AS 0 0 0.044 0 0 0 0 13 0 0 0 0 7.677 124107 chr16 87445183 87445183 G A rs73238669 ZCCHC14 Synonymous SNV C911C 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Benign 8.029 124108 chr16 24582765 24582765 C T rs199686152 RBBP6 Nonsynonymous SNV R1426C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 124109 chr16 87445411 87445411 G A rs73238672 ZCCHC14 Synonymous SNV Y972Y 0.008 0.003 0.017 1 9 1 0.003 5 0 0 1 0 0.773 124110 chr16 2813878 2813878 G A SRRM2 Nonsynonymous SNV D1117N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.344 124111 chr16 84075714 84075714 G A SLC38A8 Nonsynonymous SNV P17S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 124112 chr16 25228566 25228566 G A rs139992979 AQP8 Synonymous SNV P20P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.872 124113 chr16 25266547 25266547 C A rs113273135 ZKSCAN2 Nonsynonymous SNV R189L 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 0.568 124114 chr16 2578101 2578101 G A AMDHD2 Synonymous SNV V223V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.207 124115 chr16 2647153 2647153 G A PDPK1 Synonymous SNV L350L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 124116 chr11 2436511 2436511 C T rs751198617 TRPM5 Nonsynonymous SNV R440Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.98 124117 chr5 75914369 75914369 C T rs147259966 F2RL2 Nonsynonymous SNV A33T 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 7.335 124118 chr16 30020355 30020355 G T rs200874282 DOC2A Nonsynonymous SNV S163R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 124119 chr14 54996790 54996790 T C CGRRF1 Nonsynonymous SNV C90R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 124120 chr14 55468875 55468875 A G rs374497720 WDHD1 Nonsynonymous SNV V87A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.9 124121 chr16 3016177 3016177 G A rs373293155 KREMEN2 Synonymous SNV V102V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.754 124122 chr16 84523025 84523025 T C rs111396691 MEAK7 Nonsynonymous SNV T130A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 9.97 124123 chr14 56757104 56757104 G A rs117504135 PELI2 Nonsynonymous SNV R209H 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 35 124124 chr16 29897052 29897052 C T rs150650092 SEZ6L2 Synonymous SNV G295G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 16.37 124125 chr16 88800060 88800060 C T rs202103485 PIEZO1 Nonsynonymous SNV R808Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25 124126 chr16 88800139 88800139 C T rs200970763 PIEZO1 Nonsynonymous SNV G782S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 124127 chr11 33211791 33211791 T C rs72908730 CSTF3-DT 0 0 0.007 0 0 0 0 2 0 0 1 0 1.541 124128 chr16 31235922 31235922 A G rs373379714 TRIM72 Nonsynonymous SNV Y427C 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 24.4 124129 chr16 31475731 31475731 G A rs374123135 ARMC5 Nonsynonymous SNV E463K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 124130 chr14 39545276 39545276 C T SEC23A Nonsynonymous SNV A284T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 124131 chr11 3688539 3688558 GTGACGCCCAGCGACACCTT - rs776973836 CHRNA10 K61Rfs*64 0.001 0 0.003 0 1 0 0 1 0 0 0 0 124132 chr16 31475849 31475849 G A rs200054015 ARMC5 Nonsynonymous SNV R502H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 124133 chr16 3339721 3339721 G A rs767915747 ZNF263 Synonymous SNV L405L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 124134 chr17 62158133 62158133 A G ERN1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 124135 chr16 89348801 89348801 G A rs146025366 ANKRD11 Synonymous SNV G1383G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 7.786 124136 chr16 3526248 3526256 CAGCGCGCT - NAA60 A9_S11del 0.001 0 0 0 1 0 0 0 0 0 0 0 124137 chr16 3640460 3640460 C G SLX4 Nonsynonymous SNV R1060P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.436 124138 chr16 89845393 89845393 G A rs762647468 FANCA Synonymous SNV Y578Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 4.696 124139 chr16 89849300 89849300 G A rs762342197 FANCA Synonymous SNV Y531Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 124140 chr16 343632 343632 G T rs765060362 AXIN1 Nonsynonymous SNV T681N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 124141 chr14 70633678 70633678 G A rs149204532 SLC8A3 Nonsynonymous SNV R488C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.9 124142 chr16 29821427 29821435 GCAGCGGCA - rs760562143 MAZ A141_A143del 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 124143 chr16 29898984 29898984 A C SEZ6L2 Nonsynonymous SNV D284E 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 124144 chr16 46958352 46958352 G T rs140757319 GPT2 Nonsynonymous SNV D322Y 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Likely benign 27.8 124145 chr5 96341912 96341912 C T rs72775875 LNPEP Nonsynonymous SNV P641S 0.004 0.016 0.02 3 5 6 0.008 6 0 0 0 0 16.88 124146 chr16 47162475 47162475 C T rs147090370 NETO2 Nonsynonymous SNV R81H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 29.1 124147 chr14 72941408 72941408 G T rs374285095 RGS6 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 124148 chr11 46907993 46907993 C T rs763092683 LRP4 Synonymous SNV L769L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 124149 chr14 73989520 73989520 G T rs889267071 HEATR4 Nonsynonymous SNV P113T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 124150 chr16 46992951 46992951 A G rs186339002 DNAJA2 Synonymous SNV F337F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.34 124151 chr11 47599309 47599309 G A rs747496830 KBTBD4 Synonymous SNV A130A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 124152 chr11 47745696 47745696 G C rs138653244 FNBP4 Nonsynonymous SNV S785C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.2 124153 chr17 12893430 12893430 G A rs752764904 ARHGAP44 Nonsynonymous SNV R794Q 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 124154 chr11 48157625 48157625 C T rs148782546 PTPRJ Synonymous SNV Y550Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.251 124155 chr17 6941474 6941474 C G rs756758847 SLC16A13 Nonsynonymous SNV S116C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 124156 chr11 48285423 48285423 C T rs751538871 OR4X1 Nonsynonymous SNV T4I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.899 124157 chr16 9017226 9017226 G A rs758589839 USP7 Nonsynonymous SNV R61C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 124158 chr16 9857869 9857869 G T rs377152953 GRIN2A Nonsynonymous SNV L1178I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 0.004 124159 chr16 50343557 50343557 G A rs143089982 ADCY7 Synonymous SNV P720P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.38 124160 chr16 50667457 50667457 C G rs376330630 NKD1 Nonsynonymous SNV S393C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.102 124161 chr16 50746045 50746045 G A NOD2 Stop gain W714X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 124162 chr17 16852237 16852237 A T rs72553877 TNFRSF13B Nonsynonymous SNV I87N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 124163 chr14 59950803 59950803 C T rs144784111 L3HYPDH Nonsynonymous SNV A78T 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 26.7 124164 chr17 72281314 72281314 G A rs200358267 DNAI2 Nonsynonymous SNV V107I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.004 124165 chr14 60011956 60011956 G A CCDC175 Nonsynonymous SNV T366I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 124166 chr16 55585005 55585005 C T LPCAT2 Synonymous SNV L402L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 124167 chr16 57201057 57201057 T C rs748942436 PSME3IP1 Nonsynonymous SNV K144E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.562 124168 chr16 58071476 58071476 G A rs150458413 MMP15 Nonsynonymous SNV R88H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 124169 chr16 58073839 58073839 C T rs561291546 MMP15 Synonymous SNV A167A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 124170 chr16 57693319 57693319 G A rs112805221 ADGRG1 Synonymous SNV P263P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.63 124171 chr16 47001469 47001469 A G DNAJA2 Nonsynonymous SNV M178T 0 0 0 2 0 0 0.005 0 0 0 0 0 26 124172 chr14 92537354 92537354 - CTGCTG ATXN3 A22_G23insAA 0.003 0 0.003 3 4 0 0.008 1 0 0 0 1 124173 chr17 7365863 7365863 T C rs145141617 ZBTB4 Nonsynonymous SNV D813G 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 1.166 124174 chr14 68044060 68044060 G C rs45522335 PLEKHH1 Nonsynonymous SNV D835H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 23.3 124175 chr16 65015966 65015966 G A CDH11 Nonsynonymous SNV A287V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 124176 chr16 50733465 50733465 C T rs201586544 NOD2 Nonsynonymous SNV S20L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 124177 chr16 67273254 67273254 A G rs138319092 FHOD1 Nonsynonymous SNV I102T 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 16.57 124178 chr16 67970596 67970596 C T rs201451622 PSMB10 0.005 0.005 0 0 6 2 0 0 0 0 0 0 28.3 124179 chr14 94933649 94933649 G A rs200425073 SERPINA9 Synonymous SNV V153V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.646 124180 chr16 67859955 67859955 C T rs61999337 TSNAXIP1 Nonsynonymous SNV R28W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.5 124181 chr5 139742617 139742617 C A rs372005697 SLC4A9 Nonsynonymous SNV P310T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.7 124182 chr14 71199379 71199379 G A MAP3K9 Nonsynonymous SNV L636F 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 16.15 124183 chr14 71444420 71444420 A G rs531314229 PCNX1 Nonsynonymous SNV M456V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.001 124184 chr17 74383204 74383204 A G SPHK1 Nonsynonymous SNV Q231R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 124185 chr15 100271946 100271946 G C rs201005514 LYSMD4 Nonsynonymous SNV L87V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 27.8 124186 chr14 74413296 74413296 C T rs113301882 FAM161B Nonsynonymous SNV E23K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.041 124187 chr17 26691636 26691636 T C SEBOX Nonsynonymous SNV K76R 0.003 0 0 0 4 0 0 0 0 0 0 0 10.41 124188 chr11 55418453 55418453 G C rs529689088 OR4S2 Nonsynonymous SNV C25S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.349 124189 chr15 101113942 101113942 T C rs779666703 LINS1 Nonsynonymous SNV H379R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.07 124190 chr15 101593597 101593597 C T rs41418955 LRRK1 Synonymous SNV L1342L 0.002 0 0.01 4 2 0 0.01 3 0 0 0 0 Benign 11.68 124191 chr5 141242842 141242842 G A rs149883982 PCDH1 Synonymous SNV S639S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 10.21 124192 chr14 76966275 76966275 T C rs188462546 ESRRB Nonsynonymous SNV F456L 0.009 0.008 0.003 2 11 3 0.005 1 0 1 0 0 Conflicting interpretations of pathogenicity 0.327 124193 chr16 72170622 72170622 C T rs775958848 PMFBP1 Nonsynonymous SNV V339M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.9 124194 chr16 72822471 72822471 T C rs144419749 ZFHX3 Nonsynonymous SNV K2321R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.69 124195 chr17 76495265 76495265 C T rs555947503 DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.605 124196 chr16 615095 615095 G A rs74459225 PRR35 Nonsynonymous SNV G502S 0.019 0.01 0.007 13 22 4 0.033 2 0 0 0 0 0.009 124197 chr17 76535954 76535954 T C DNAH17 Synonymous SNV A847A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 124198 chr17 76558036 76558036 C T DNAH17 Nonsynonymous SNV M532I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 124199 chr14 78399695 78399695 C T rs145934554 ADCK1 Synonymous SNV V406V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.559 124200 chr17 76798411 76798411 C T rs144756950 USP36 Nonsynonymous SNV R1006H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.637 124201 chr17 27225833 27225833 C A rs771360060 DHRS13 Nonsynonymous SNV V254L 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 16.38 124202 chr16 67697180 67697180 C T rs61741302 ENKD1 Nonsynonymous SNV A309T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 28.5 124203 chr16 67697370 67697370 C T rs144134135 ENKD1 Nonsynonymous SNV R278H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 124204 chr16 67863713 67863713 C T rs61744532 CENPT Nonsynonymous SNV G381R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 17.96 124205 chr16 774734 774734 T G rs142136104 CCDC78 Nonsynonymous SNV K238Q 0.004 0.008 0.003 8 5 3 0.021 1 0 0 0 0 Benign 15.84 124206 chr17 78069121 78069121 G A rs146360951 CCDC40 Synonymous SNV A964A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.234 124207 chr17 78196558 78196560 CTT - rs375759567 SLC26A11 F114del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 124208 chr17 34340325 34340325 C T rs80219613 CCL23 Nonsynonymous SNV R109H 0.007 0 0.003 6 8 0 0.015 1 0 0 0 0 11.78 124209 chr16 83932899 83932899 G T MLYCD Synonymous SNV P50P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.558 124210 chr17 7906734 7906734 C T rs529594203 GUCY2D Synonymous SNV G123G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.92 124211 chr15 41044365 41044365 G A rs750990559 RMDN3 Nonsynonymous SNV R67W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 124212 chr11 57427500 57427500 G C rs142476927 CLP1 Synonymous SNV L184L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.392 124213 chr16 84256037 84256037 G A rs142742654 KCNG4 Nonsynonymous SNV P449L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124214 chr17 34948470 34948470 G T rs571831892 DHRS11 Nonsynonymous SNV D11Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 124215 chr16 863389 863389 G A rs759061692 PRR25 Nonsynonymous SNV G246E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 124216 chr15 43622187 43622187 T C rs368845693 LCMT2 Synonymous SNV R167R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 124217 chr11 58893761 58893761 C G rs17153376 FAM111B Nonsynonymous SNV P701A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.189 124218 chr17 3819384 3819384 C T P2RX1 Nonsynonymous SNV G46R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 124219 chr15 33381037 33381037 T C FMN1 Nonsynonymous SNV E669G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 21.5 124220 chr15 33381043 33381043 T C FMN1 Nonsynonymous SNV E667G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 16.93 124221 chr11 59733186 59733186 C T rs143774279 OOSP1 0 0 0.034 0 0 0 0 10 0 0 0 0 0.018 124222 chr15 49284762 49284762 A C rs377620350 SECISBP2L Nonsynonymous SNV D950E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 124223 chr16 88706265 88706265 G A rs777241632 IL17C Nonsynonymous SNV A127T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 124224 chr16 88804361 88804361 G A rs574402639 PIEZO1 Nonsynonymous SNV A334V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.822 124225 chr17 39081638 39081638 C T rs144893068 KRT23 Synonymous SNV T233T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 15.92 124226 chr16 88782210 88782210 C T rs747385238 PIEZO1 Nonsynonymous SNV G2457R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 124227 chr17 39551867 39551867 A G KRT31 Synonymous SNV N199N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.553 124228 chr16 88783112 88783112 T C rs550322372 PIEZO1 Nonsynonymous SNV S2261G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.82 124229 chr15 51991579 51991579 A C rs757877922 SCG3 Nonsynonymous SNV N118T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 124230 chr18 13037242 13037242 C T CEP192 Nonsynonymous SNV A514V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 124231 chr17 39183350 39183350 A G rs373331449 KRTAP1-5 Nonsynonymous SNV C20R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.2 124232 chr17 39190580 39190580 G A rs200219748 KRTAP1-3 Nonsynonymous SNV P165L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.6 124233 chr5 178987135 178987135 G A RUFY1 Synonymous SNV A32A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.4 124234 chr18 21453145 21453145 T A LAMA3 Nonsynonymous SNV L46Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.98 124235 chr17 39296487 39296487 A G rs766489747 KRTAP4-6 Nonsynonymous SNV C85R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22 124236 chr11 61053834 61053834 C T rs753864831 VWCE Nonsynonymous SNV E165K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 124237 chr17 40010331 40010331 G A rs142556293 KLHL11 Synonymous SNV V596V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 3.841 124238 chr15 59813463 59813463 C T rs746557408 FAM81A Synonymous SNV A331A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.02 124239 chr16 85690006 85690006 T C rs111733333 GSE1 Synonymous SNV R245R 0 0 0 2 0 0 0.005 0 0 0 0 0 5.809 124240 chr16 89895000 89895000 A G rs371843292 SPIRE2 Synonymous SNV A14A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.543 124241 chr17 4072574 4072574 A G rs779897564 ANKFY1 Nonsynonymous SNV S1141P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.4 124242 chr15 63017220 63017220 A G rs150656070 TLN2 Nonsynonymous SNV T1058A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 124243 chr15 42442890 42442890 G C rs201683192 PLA2G4F Synonymous SNV L229L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.02 124244 chr6 2834235 2834235 C G SERPINB1 Nonsynonymous SNV Q249H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.846 124245 chr17 39643658 39643658 T A rs139865124 KRT36 Nonsynonymous SNV E311V 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 32 124246 chr17 1416795 1416795 C T rs141143176 INPP5K Synonymous SNV S71S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 18.95 124247 chr17 39643659 39643659 C A rs145372311 KRT36 Stop gain E311X 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 44 124248 chr15 43482277 43482277 G A rs201779296 CCNDBP1 Nonsynonymous SNV R119Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.7 124249 chr11 639719 639719 G A rs530519660 DRD4 Nonsynonymous SNV G157D 0 0 0.003 0 0 0 0 1 0 0 0 0 22 124250 chr15 43622519 43622519 A G rs746871976 LCMT2 Nonsynonymous SNV Y57H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.9 124251 chr18 33744530 33744530 G A rs778037150 ELP2 Synonymous SNV T548T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 124252 chr17 42399075 42399075 C T rs562082568 SLC25A39 Nonsynonymous SNV A106T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 124253 chr17 12888056 12888056 T C rs62000436 ARHGAP44 Synonymous SNV P510P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.772 124254 chr15 65684690 65684690 T C rs75405617 IGDCC4 Nonsynonymous SNV E635G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 124255 chr17 39884081 39884081 G A rs74691434 HAP1 Nonsynonymous SNV A435V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.361 124256 chr17 1486553 1486553 T C SLC43A2 Nonsynonymous SNV N295S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 124257 chr18 43307378 43307378 G A rs201620887 SLC14A1 Nonsynonymous SNV E48K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 124258 chr6 13711293 13711293 G A rs769393037 RANBP9 Nonsynonymous SNV R149W 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.3 124259 chr17 1552104 1552104 G T rs781660184 RILP Nonsynonymous SNV P222T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.611 124260 chr16 88801565 88801565 C T rs371201673 PIEZO1 Synonymous SNV T549T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 11.37 124261 chr15 72523240 72523240 C - PKM, PKM G30Afs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 124262 chr15 50929767 50929767 T C rs56298223 TRPM7 Synonymous SNV L228L 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 6.703 124263 chr11 6500508 6500508 G A rs139083273 ARFIP2 Synonymous SNV V92V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 18.81 124264 chr15 73615422 73615422 C T rs377602893 HCN4 Synonymous SNV P1004P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.716 124265 chr11 65211735 65211748 TGTGTGTGTGTGTG - NEAT1 0 0 0.061 0 0 0 0 18 0 0 7 0 124266 chr17 46052548 46052548 C T rs748985064 CDK5RAP3 Nonsynonymous SNV R33W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 124267 chr16 89703747 89703747 G A rs781743635 DPEP1 Nonsynonymous SNV A243T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.034 124268 chr15 56032707 56032707 G A rs76058251 PRTG Synonymous SNV N90N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.109 124269 chr18 55238725 55238725 T C rs141813907 FECH Nonsynonymous SNV E121G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 124270 chr16 89894994 89894994 G A rs367937707 SPIRE2 Synonymous SNV A12A 0 0 0 2 0 0 0.005 0 0 0 0 1 12.13 124271 chr17 4356344 4356344 C T rs775638578 SPNS3 Synonymous SNV G192G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 124272 chr15 77907620 77907620 G A rs955121948 LINGO1 Nonsynonymous SNV A210V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 124273 chr17 47237990 47237990 C T rs138230946 B4GALNT2 Synonymous SNV Y251Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.94 124274 chr17 47782618 47782618 C T rs147270335 SLC35B1 Synonymous SNV L65L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.96 124275 chr6 27420084 27420084 G A rs142692089 ZNF184 Synonymous SNV Y418Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.231 124276 chr17 4796800 4796800 G A rs373735228 MINK1 Synonymous SNV S787S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.09 124277 chr18 56338750 56338750 G T rs541201464 LOC101927322 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.31 124278 chr11 6653585 6653585 C G rs138340204 DCHS1 Nonsynonymous SNV W1053S 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Likely benign 24.4 124279 chr15 64275859 64275859 G A rs200808263 DAPK2 Nonsynonymous SNV R63W 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 23.3 124280 chr17 14248941 14248941 G A rs147533301 HS3ST3B1 Nonsynonymous SNV G384E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.6 124281 chr17 46863596 46863596 T C rs756434166 TTLL6 Nonsynonymous SNV K257R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.002 124282 chr5 176734647 176734647 C T rs140600459 MXD3 Nonsynonymous SNV R188Q 0.011 0.008 0.01 3 13 3 0.008 3 1 0 0 0 10.39 124283 chr15 65321935 65321935 C G rs771777757 MTFMT Nonsynonymous SNV R6P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Likely benign 23.1 124284 chr17 48628242 48628242 C T rs139980663 SPATA20 Synonymous SNV Y433Y 0.004 0.01 0.003 5 5 4 0.013 1 0 0 0 0 12.77 124285 chr17 4699541 4699541 G T PSMB6 Nonsynonymous SNV G18W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 124286 chr18 60646096 60646096 G A PHLPP1 Nonsynonymous SNV R1529H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124287 chr17 48828269 48828269 C T rs754470759 LUC7L3 Nonsynonymous SNV L481F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.07 124288 chr18 61170790 61170790 A G rs138689781 SERPINB5 Synonymous SNV K321K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.54 124289 chr6 35277528 35277528 G A rs750051088 DEF6 Nonsynonymous SNV D60N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 124290 chr17 4794407 4794407 G C rs200592676 MINK1 Nonsynonymous SNV E576D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.7 124291 chr15 65684226 65684226 G A rs139423668 IGDCC4 Nonsynonymous SNV P739L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 124292 chr17 26906381 26906381 A C SPAG5 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 124293 chr17 51902224 51902224 A G KIF2B Synonymous SNV T610T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 124294 chr17 52993131 52993131 G C TOM1L1 Nonsynonymous SNV D133H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 124295 chr15 66820227 66820227 A G rs753263940 ZWILCH Nonsynonymous SNV T202A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 124296 chr17 26370125 26370142 GCAGCAGCGGCTGCAGCT - rs746542171 NLK A78_A83del 0.001 0 0 0 1 0 0 0 0 0 0 0 124297 chr15 68605195 68605195 G A ITGA11 Synonymous SNV S963S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.52 124298 chr18 6890049 6890049 C T rs751989443 ARHGAP28 Nonsynonymous SNV R408C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 124299 chr15 69003113 69003113 A G rs748209677 CORO2B Nonsynonymous SNV M121V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 18.98 124300 chr17 17696913 17696913 C T RAI1 Synonymous SNV P217P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.156 124301 chr17 26824230 26824230 C T SLC13A2 Synonymous SNV S623S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.55 124302 chr5 179315144 179315144 T C rs141821788 TBC1D9B Nonsynonymous SNV I405V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 124303 chr17 55926640 55926640 G T rs138577447 MRPS23 Nonsynonymous SNV P59H 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 11.39 124304 chr17 56348122 56348122 G A rs61747608 MPO Synonymous SNV T711T 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 Benign 13.72 124305 chr11 72422184 72422184 G A rs548349119 ARAP1 Synonymous SNV D120D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.286 124306 chr15 89806674 89806674 A G rs145939211 FANCI Synonymous SNV Q176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.241 124307 chr15 73622065 73622065 C G HCN4 Nonsynonymous SNV G480A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 124308 chr11 73753157 73753157 C T rs142851617 C2CD3 Nonsynonymous SNV D1868N 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Likely benign 16.21 124309 chr17 56435981 56435981 G A rs777370175 RNF43 Nonsynonymous SNV R259W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 124310 chr17 19645412 19645412 C T rs57633837 ALDH3A1 Synonymous SNV T198T 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Benign 19.28 124311 chr11 74110353 74110353 A G rs515924 MIR548AL 0 0 0.082 0 0 0 0 24 0 0 1 0 14.4 124312 chr17 55183945 55183945 C T rs376035654 AKAP1 Nonsynonymous SNV R374C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 124313 chr11 74554374 74554374 T C rs372121351 XRRA1 Synonymous SNV T475T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.014 124314 chr17 34072958 34072958 G A rs140293881 GAS2L2 Nonsynonymous SNV P520S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 124315 chr17 59763267 59763267 T C rs786203633 BRIP1 Synonymous SNV E945E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.031 124316 chr6 43251409 43251409 G A rs756556063 TTBK1 Synonymous SNV A977A 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 0.307 124317 chr11 74952295 74952295 C A rs142698935 TPBGL Synonymous SNV G67G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 20.2 124318 chr15 75498447 75498447 C T rs143806224 C15orf39 Nonsynonymous SNV R20C 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 31 124319 chr17 35311114 35311114 G T rs115760333 AATF Nonsynonymous SNV A247S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 124320 chr17 61769692 61769692 C T rs773722519 MAP3K3 Nonsynonymous SNV T518M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124321 chr17 61781895 61781895 G A rs769128769 STRADA Synonymous SNV T265T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.832 124322 chr17 3480433 3480433 G C rs9913209 TRPV1 Nonsynonymous SNV F589L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.32 124323 chr15 94983475 94983475 A G rs148595149 MCTP2 Nonsynonymous SNV Y719C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 124324 chr17 3582954 3582954 C T rs61748727 P2RX5 Nonsynonymous SNV E373K 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 11.93 124325 chr16 10775980 10775980 C A rs147720864 TEKT5 Nonsynonymous SNV A245S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 13.4 124326 chr17 67119479 67119479 G C ABCA6 Nonsynonymous SNV T446S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 124327 chr17 37825968 37825968 A G rs368391083 PNMT Nonsynonymous SNV I97V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 124328 chr17 38323861 38323861 T C rs371078994 CASC3 Synonymous SNV D549D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.698 124329 chr17 3844454 3844454 G A rs974829115 ATP2A3 Synonymous SNV R637R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.491 124330 chr17 38187469 38187469 T A rs928503339 MED24 Nonsynonymous SNV E353V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 124331 chr15 85198553 85198553 C G rs754305382 NMB Nonsynonymous SNV G138A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.693 124332 chr17 65942233 65942233 A G rs782649280 BPTF Nonsynonymous SNV Q2470R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.3 124333 chr17 67298916 67298916 C T rs143655246 ABCA5 Synonymous SNV S354S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.24 124334 chr15 86087130 86087130 G A rs765802714 AKAP13 Synonymous SNV T202T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.07 124335 chr17 66928434 66928434 C T rs3826430 ABCA8 Synonymous SNV A264A 0.006 0.008 0.014 5 7 3 0.013 4 0 0 0 0 16.2 124336 chr11 92495255 92495255 C T rs150159060 FAT3 Synonymous SNV D1301D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.518 124337 chr16 1489062 1489062 G A rs375024782 CCDC154 Synonymous SNV C247C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.559 124338 chr17 39186011 39186011 C G rs759238582 KRTAP1-4 Nonsynonymous SNV C107S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 124339 chr6 72892409 72892409 G A RIMS1 Nonsynonymous SNV R412H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.1 124340 chr16 16200613 16200613 C T ABCC1 Synonymous SNV S918S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 124341 chr19 12089656 12089656 A G ZNF763 Nonsynonymous SNV H184R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 124342 chr11 95713077 95713077 C T rs34520053 MAML2 Nonsynonymous SNV V836I 0.005 0.008 0.031 2 6 3 0.005 9 0 0 0 0 12.9 124343 chr12 102158219 102158219 T C rs553711125 GNPTAB Nonsynonymous SNV I826V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 124344 chr16 19485597 19485597 C T rs200385991 TMC5 Stop gain R451X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 124345 chr16 19580764 19580764 A T rs755678441 VPS35L Stop gain K46X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 124346 chr12 103352172 103352174 GCA - rs876657430 ASCL1 Q62del 0.009 0.005 0.041 5 10 2 0.013 12 0 0 0 0 124347 chr17 72588242 72588242 G A rs143787635 C17orf77 Synonymous SNV A19A 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 4.516 124348 chr12 106838243 106838243 A T rs144161033 POLR3B Nonsynonymous SNV D595V 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign/Likely benign 21.9 124349 chr16 20974829 20974829 T C DNAH3 Synonymous SNV Q3413Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 124350 chr16 21042446 21042446 C T rs141137569 DNAH3 Nonsynonymous SNV R1741H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 124351 chr17 74287320 74287320 C T rs75138404 QRICH2 Nonsynonymous SNV R997Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.098 124352 chr17 38498879 38498879 C G RARA-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 12.61 124353 chr17 74288906 74288965 ACCAGGTTGGGCCAAACCAGACTGATCCATTCCAGGCCAGACCAAACCACGCTGATCTGC - QRICH2 A449_G468del 0.003 0 0.003 0 4 0 0 1 0 0 0 0 124354 chr17 74684586 74684586 C T rs181105524 MXRA7 Synonymous SNV A48A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.897 124355 chr16 25232875 25232875 G T AQP8 Nonsynonymous SNV G120W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 124356 chr17 41891391 41891391 C T rs200261956 MPP3 Nonsynonymous SNV V440I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 124357 chr17 41901316 41901316 G A rs199616643 MPP3 Nonsynonymous SNV R248C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 124358 chr16 27475887 27475887 C T rs144086944 GTF3C1 Nonsynonymous SNV E1876K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 124359 chr16 2812212 2812212 G A rs373076396 SRRM2 Synonymous SNV R561R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.339 124360 chr12 110897558 110897558 G A rs11541440 GPN3 Synonymous SNV D128D 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 8.12 124361 chr17 42248238 42248238 C T rs140506716 ASB16 Synonymous SNV D27D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.06 124362 chr16 2814470 2814470 A T rs202209628 SRRM2 Nonsynonymous SNV H1314L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 124363 chr17 74011706 74011706 T G rs145488254 EVPL Nonsynonymous SNV T594P 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 13.72 124364 chr17 39324349 39324349 G A rs773968723 KRTAP4-3 Nonsynonymous SNV R26C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.779 124365 chr16 2835815 2835815 G T rs187037756 PRSS33 Nonsynonymous SNV A76E 0.001 0 0 0 1 0 0 0 0 0 0 0 26 124366 chr12 112167753 112167753 G A rs36046440 ACAD10 Nonsynonymous SNV D463N 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.5 124367 chr12 112601007 112601007 C A HECTD4 Nonsynonymous SNV G4330V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 124368 chr12 113306379 113306379 C A RPH3A Nonsynonymous SNV P130T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 124369 chr17 4352564 4352564 G A rs147966930 SPNS3 Nonsynonymous SNV A142T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.3 124370 chr16 29831026 29831026 C G rs142285591 PAGR1 Nonsynonymous SNV P239R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 124371 chr16 30017585 30017585 C T rs369114686 DOC2A Synonymous SNV Q375Q 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.058 124372 chr16 30097560 30097560 T G rs746202415 TBX6 Nonsynonymous SNV K433Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 124373 chr17 74921071 74921071 G A rs140434997 MGAT5B Nonsynonymous SNV R361Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 124374 chr6 111726812 111726812 G A rs761638789 REV3L Synonymous SNV S142S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.22 124375 chr16 30566995 30566995 G A rs148272059 ZNF764 Synonymous SNV H248H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.171 124376 chr16 30723222 30723222 G A rs139339184 SRCAP Nonsynonymous SNV S520N 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 Benign/Likely benign 12.26 124377 chr16 30734045 30734045 A G rs150246733 SRCAP Nonsynonymous SNV S1290G 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign/Likely benign 10.78 124378 chr17 39620661 39620661 C T rs764110812 KRT32 Nonsynonymous SNV R248H 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 124379 chr17 76235292 76235292 C G rs777458009 TMEM235 Synonymous SNV A126A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.802 124380 chr17 7722376 7722376 C T rs202094383 DNAH2 Nonsynonymous SNV R3604W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124381 chr12 120151527 120151527 C T rs141225976 MIR1178 0 0 0.003 0 0 0 0 1 0 0 0 0 8.214 124382 chr16 3109120 3109120 G T rs369473134 MMP25-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.397 124383 chr17 76503605 76503605 C T rs187178839 DNAH17 Nonsynonymous SNV E1507K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 124384 chr12 120574342 120574342 C T rs185701009 GCN1 Synonymous SNV A2324A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.73 124385 chr17 76802331 76802331 C T rs144554402 USP36 Nonsynonymous SNV R708H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 22.1 124386 chr19 17597588 17597588 C A rs531250354 SLC27A1 Synonymous SNV G128G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.67 124387 chr17 4725991 4725991 C T rs761626963 PLD2 Synonymous SNV Y867Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.34 124388 chr16 3336067 3336067 G T rs143903106 ZNF263 Nonsynonymous SNV E229D 0.003 0.008 0 0 4 3 0 0 0 0 0 0 18.02 124389 chr16 335331 335331 C T rs372165409 PDIA2 Nonsynonymous SNV A272V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 124390 chr6 52699066 52699066 G A rs143276278 GSTA5 Nonsynonymous SNV T96I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.088 124391 chr6 52960462 52960462 A G rs185129258 FBXO9 Nonsynonymous SNV K412R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.65 124392 chr19 17895722 17895722 G A rs144763703 FCHO1 Synonymous SNV P755P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.704 124393 chr16 3434774 3434774 G A rs200152894 ZSCAN32 Nonsynonymous SNV R18C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 124394 chr17 48183473 48183473 G A rs770346659 PDK2 Nonsynonymous SNV G186E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.029 124395 chr17 48246548 48246548 C G rs201131924 SGCA Nonsynonymous SNV P227R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.79 124396 chr17 7852724 7852724 C T rs151174639 CNTROB Nonsynonymous SNV R892C 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 35 124397 chr12 124256173 124256173 A G rs750589935 DNAH10 Synonymous SNV E47E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.166 124398 chr17 79226995 79226995 G A rs148703437 SLC38A10 Nonsynonymous SNV P445L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 124399 chr6 56999585 56999585 C A rs140750140 ZNF451 Nonsynonymous SNV P207T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 22.9 124400 chr12 124402187 124402187 C T rs768738966 DNAH10 Nonsynonymous SNV R3569W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 124401 chr6 138202173 138202173 G A rs201429571 TNFAIP3 Nonsynonymous SNV R697K 0 0.005 0 0 0 2 0 0 0 0 0 0 23.9 124402 chr12 124831226 124831226 C T NCOR2 Nonsynonymous SNV V1405M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 124403 chr12 124870429 124870429 G A rs375563372 NCOR2 Synonymous SNV L626L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 124404 chr17 5086956 5086956 A C rs3853648 ZNF594 Nonsynonymous SNV V199G 0.003 0 0.01 1 3 0 0.003 3 0 0 1 0 0.006 124405 chr17 5087037 5087039 ATA - rs140730704 ZNF594 I172del 0.003 0 0.017 1 4 0 0.003 5 0 0 1 0 124406 chr17 79974910 79974910 C T ASPSCR1 Synonymous SNV V471V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 124407 chr17 5317337 5317337 G A rs142150943 NUP88 Synonymous SNV N195N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.08 124408 chr17 5322955 5322955 C T rs150994660 NUP88 Nonsynonymous SNV G6R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.35 124409 chr17 5359400 5359400 C T rs199848387 DHX33 Nonsynonymous SNV G145S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.55 124410 chr17 5404019 5404019 G A rs1045001257 LOC728392 Synonymous SNV C86C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.22 124411 chr6 75797312 75797312 G A rs35292916 COL12A1 Synonymous SNV Y1890Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.141 124412 chr12 13154164 13154164 G T rs139884751 HTR7P1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.09 124413 chr12 13208687 13208687 G C FAM234B Nonsynonymous SNV E80D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 124414 chr17 56232899 56232899 C A rs143254667 OR4D1 Nonsynonymous SNV P129T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.3 124415 chr17 80045900 80045900 G A rs770009057 FASN Synonymous SNV S932S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.015 124416 chr19 21720655 21720655 A C rs367985904 ZNF429 Nonsynonymous SNV K536N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 124417 chr19 21992256 21992256 T C rs373217150 ZNF43 Nonsynonymous SNV I130V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.478 124418 chr16 57015076 57015076 G A rs34855278 CETP Nonsynonymous SNV V325M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.51 124419 chr17 8022071 8022071 C T rs369365199 ALOXE3 Nonsynonymous SNV C9Y 0.015 0.013 0.007 6 18 5 0.015 2 0 0 0 0 12.59 124420 chr12 133438211 133438211 C A rs777186106 CHFR Nonsynonymous SNV G118V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.426 124421 chr12 13526156 13526156 C T rs147557175 LINC01559 0 0 0.024 0 0 0 0 7 0 0 0 0 8.987 124422 chr17 80684432 80684432 A G rs144986629 FN3KRP Nonsynonymous SNV K182R 0.005 0 0 4 6 0 0.01 0 0 0 0 0 18.43 124423 chr17 4711332 4711332 C T rs758100452 PLD2 Nonsynonymous SNV H55Y 0 0 0 4 0 0 0.01 0 0 0 0 0 3.587 124424 chr19 24116217 24116217 G A rs757476015 ZNF726 Synonymous SNV A433A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.256 124425 chr18 10699142 10699142 C G rs200276831 PIEZO2 Nonsynonymous SNV E2046Q 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Uncertain significance 12.37 124426 chr12 1553742 1553742 C T rs540313165 ERC1 Synonymous SNV L1013L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 124427 chr19 2765222 2765222 G A rs149116209 SGTA Synonymous SNV I118I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 124428 chr19 2933733 2933733 G A rs139846934 ZNF77 Synonymous SNV Y464Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.676 124429 chr17 61562707 61562707 A G rs371131106 ACE Nonsynonymous SNV I104V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 124430 chr17 48245817 48245817 C T rs750297310 SGCA Synonymous SNV R156R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 12.01 124431 chr16 28877881 28877881 C T rs967717061 SH2B1 Nonsynonymous SNV R156C 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 28.8 124432 chr16 28948447 28948447 G T CD19 Synonymous SNV P396P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.423 124433 chr19 308623 308623 G T rs141505934 MIER2 Synonymous SNV P348P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.643 124434 chr6 158873173 158873173 G A rs373994727 TULP4 Synonymous SNV P244P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.12 124435 chr16 66919273 66919273 C T rs200021211 PDP2 Synonymous SNV S362S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.22 124436 chr16 67208993 67208993 C G rs201000974 NOL3 Nonsynonymous SNV A218G 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 7.939 124437 chr16 30002677 30002677 A T rs80174893 TAOK2 Nonsynonymous SNV N980Y 0.005 0.013 0.003 0 6 5 0 1 0 0 0 0 15.36 124438 chr16 67516596 67516596 A G rs199826914 AGRP Synonymous SNV N114N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.818 124439 chr16 30531270 30531270 T C rs769743816 ITGAL Synonymous SNV I1023I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.14 124440 chr16 30671157 30671157 G A rs562926125 FBRS Synonymous SNV G106G 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 6.898 124441 chr19 35084467 35084467 G C rs61741628 SCGB2B2 Nonsynonymous SNV A95G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 124442 chr19 35251080 35251080 C G rs73591309 ZNF599 Nonsynonymous SNV S209T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 124443 chr16 30938962 30938962 G A rs200017689 FBXL19 Synonymous SNV Q150Q 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 0.007 124444 chr16 30991340 30991340 G A rs200234779 SETD1A Synonymous SNV P1411P 0.006 0.013 0 2 7 5 0.005 0 0 0 0 0 0.998 124445 chr16 31143546 31143546 A G rs747344909 PRSS8 Synonymous SNV T272T 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 2.612 124446 chr12 32777359 32777359 T C rs60803891 FGD4 Synonymous SNV S321S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Benign 7.956 124447 chr18 22902081 22902081 G A rs114158937 ZNF521 Synonymous SNV D37D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.69 124448 chr18 29788212 29788212 C T rs749835743 MEP1B Synonymous SNV H299H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.3 124449 chr18 25591942 25591942 A G CDH2 Synonymous SNV V107V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.158 124450 chr19 36223771 36223771 G A rs200327646 KMT2B Synonymous SNV E2107E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 11.17 124451 chr17 6945679 6945679 C T rs749641384 SLC16A11 Synonymous SNV L250L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.12 124452 chr17 56572524 56572524 T C rs74685241 MTMR4 Synonymous SNV T993T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.039 124453 chr16 339499 339499 C T rs113073289 AXIN1 Synonymous SNV R765R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 11.49 124454 chr17 71354311 71354311 C G SDK2 Nonsynonymous SNV V1834L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 124455 chr7 1579924 1579924 C T rs747513012 MAFK Synonymous SNV P128P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.149 124456 chr12 49783606 49783606 A G rs139568807 LOC100335030 0 0 0.014 0 0 0 0 4 0 0 0 0 5.036 124457 chr12 49884473 49884473 A G rs142230440 SPATS2 Nonsynonymous SNV S75G 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 21.2 124458 chr16 816930 816930 G A MSLN Synonymous SNV L481L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.769 124459 chr18 40850433 40850433 C T rs149020215 SYT4 Nonsynonymous SNV R384Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 124460 chr19 38572324 38572324 G A rs761656220 SIPA1L3 Stop gain W40X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 124461 chr18 5416160 5416160 T C rs8082898 EPB41L3 Nonsynonymous SNV Y575C 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 8.839 124462 chr7 6227299 6227299 G A rs146001372 CYTH3 Synonymous SNV S57S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 16.82 124463 chr7 6476019 6476019 G A rs145348882 DAGLB Synonymous SNV N131N 0.006 0.01 0.003 4 7 4 0.01 1 0 0 0 0 Benign 3.869 124464 chr19 3939913 3939913 G C rs760146517 NMRK2 Nonsynonymous SNV L118F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 124465 chr18 56203881 56203881 T C rs889083837 ALPK2 Nonsynonymous SNV R1180G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.002 124466 chr18 47800093 47800093 T A rs146553828 MBD1 Synonymous SNV T350T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.665 124467 chr19 3977909 3977909 G A EEF2 Nonsynonymous SNV P659S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 124468 chr19 39826111 39826111 G A rs749800500 GMFG Nonsynonymous SNV R22C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 124469 chr12 52650023 52650023 G T rs867766723 KRT87P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.42 124470 chr16 55362809 55362809 A C rs370763586 IRX6 Synonymous SNV R307R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 6.15 124471 chr12 53004678 53004678 C T rs749787800 KRT73-AS1 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 6.999 124472 chr12 53008053 53008053 C T rs7296390 KRT73-AS1 0 0 0.02 0 0 0 0 6 0 0 3 0 6.388 124473 chr7 20825231 20825231 G C SP8 Nonsynonymous SNV L69V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.56 124474 chr12 53008587 53008587 G A rs574980609 KRT73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.823 124475 chr16 85667683 85667683 C T rs200168352 GSE1 Synonymous SNV S57S 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 14.61 124476 chr18 61160308 61160308 T C rs140393612 SERPINB5 Nonsynonymous SNV C183R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.5 124477 chr16 56673188 56673188 C T rs751573087 MT1A Nonsynonymous SNV T14I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.2 124478 chr7 21675646 21675646 C G DNAH11 Stop gain S1553X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 40 124479 chr12 53165950 53165950 G A rs201617130 KRT76 Synonymous SNV A355A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.124 124480 chr16 57555050 57555050 T G rs745458166 CCDC102A Nonsynonymous SNV E284A 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 23.8 124481 chr18 61654404 61654404 G A rs35382440 SERPINB8 Synonymous SNV R159R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 124482 chr16 88498254 88498254 T G rs559625962 ZNF469 Nonsynonymous SNV L1459R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 24.5 124483 chr18 60527799 60527799 C T rs187962936 PHLPP1 Synonymous SNV S677S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.87 124484 chr17 75484873 75484873 A G rs751867773 SEPTIN9 Nonsynonymous SNV I285V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 124485 chr12 53681873 53681873 C G ESPL1 Nonsynonymous SNV L1432V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 124486 chr16 88705649 88705649 G A rs370385352 IL17C Synonymous SNV P89P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.652 124487 chr12 53701432 53701441 AAAACGTGGA - AAAS F458Lfs*57 0.001 0 0.003 0 1 0 0 1 0 0 0 0 124488 chr17 7232443 7232443 C T rs200830598 NEURL4 Synonymous SNV R63R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.95 124489 chr19 43965804 43965804 G T rs28477226 LYPD3 Nonsynonymous SNV T247K 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Benign 23.4 124490 chr12 54350194 54350194 C T rs138682181 HOXC12 Synonymous SNV G231G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.6 124491 chr19 4433527 4433527 C T rs367905902 CHAF1A Synonymous SNV H888H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 124492 chr17 7752983 7752983 G A rs752366374 KDM6B Nonsynonymous SNV R1126Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 124493 chr16 88932248 88932248 G A rs115010391 PABPN1L Synonymous SNV T119T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.068 124494 chr17 7319131 7319131 C T NLGN2 Nonsynonymous SNV R447C 0 0 0 2 0 0 0.005 0 0 0 0 0 31 124495 chr7 37354472 37354472 G A rs145542238 ELMO1 Synonymous SNV N58N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.46 124496 chr7 37890283 37890283 A G rs199848335 NME8 Synonymous SNV L48L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.731 124497 chr17 77757584 77757584 G A rs139048340 CBX2 Synonymous SNV T114T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 7.111 124498 chr7 39503948 39503948 G A rs542853009 POU6F2 Nonsynonymous SNV R609Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 124499 chr16 89756969 89756969 C T rs141061239 CDK10 Nonsynonymous SNV R57W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 124500 chr16 89759723 89759723 G C rs141041987 CDK10 Nonsynonymous SNV C105S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.44 124501 chr7 42187885 42187885 G A rs752699928 GLI3 Nonsynonymous SNV P103S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 124502 chr18 9588121 9588121 T C rs201330292 PPP4R1 Nonsynonymous SNV D184G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 124503 chr19 44834069 44834069 T C rs117131867 ZNF112 Nonsynonymous SNV M20V 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 1.069 124504 chr18 8784555 8784555 C T rs115077293 MTCL1 Nonsynonymous SNV A482V 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 5.232 124505 chr19 1004668 1004668 C T rs370995692 GRIN3B Nonsynonymous SNV R390W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 124506 chr12 57971842 57971842 C T rs145062338 KIF5A Synonymous SNV D715D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.71 124507 chr12 6061593 6061593 G A rs41276732 VWF Synonymous SNV C2693C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.758 124508 chr17 12656052 12656052 G A rs28730823 MYOCD Nonsynonymous SNV G483S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.34 124509 chr12 64195950 64195950 G C rs201894421 RXYLT1 Nonsynonymous SNV E170Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.7 124510 chr17 12799792 12799792 G C rs376421836 ARHGAP44 Synonymous SNV L54L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 124511 chr17 7982783 7982783 C A ALOX12B Nonsynonymous SNV Q334H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 124512 chr16 72822645 72822645 G A rs149133285 ZFHX3 Nonsynonymous SNV S2263L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 23 124513 chr7 47869674 47869674 G A rs371732307 PKD1L1 Synonymous SNV S2174S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.54 124514 chr17 79863576 79863576 C T rs370946083 PCYT2 Synonymous SNV A237A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 124515 chr12 69199207 69199207 C T rs2120742 LOC100130075 0 0 0.037 0 0 0 0 11 0 0 4 0 6.331 124516 chr16 77232160 77232160 C T rs151235028 MON1B Synonymous SNV T387T 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 13.14 124517 chr19 10794396 10794396 G A rs758846034 ILF3 Nonsynonymous SNV G650R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 124518 chr19 46915250 46915250 G A rs145652080 CCDC8 Nonsynonymous SNV S273F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Uncertain significance 23.8 124519 chr17 17696796 17696796 G A rs561440366 RAI1 Synonymous SNV P178P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.669 124520 chr19 11363634 11363634 C T rs183060698 DOCK6 Nonsynonymous SNV V45I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.88 124521 chr17 19687085 19687085 G A rs56296267 ULK2 Synonymous SNV Y795Y 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 7.782 124522 chr19 14165817 14165817 G A rs369965891 PALM3 Nonsynonymous SNV R157W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 124523 chr17 78261701 78261701 C T rs746003961 RNF213 Nonsynonymous SNV P117S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.475 124524 chr18 12337348 12337348 C T rs139469785 AFG3L2 Nonsynonymous SNV V723M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 124525 chr19 48800516 48800516 G A rs372889077 CCDC114 Nonsynonymous SNV T577M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 124526 chr12 8976426 8976426 G C rs200671971 A2ML1 Synonymous SNV G119G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 7.311 124527 chr18 19153835 19153835 C T rs148536942 ESCO1 Nonsynonymous SNV E324K 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 27.7 124528 chr18 19752132 19752132 G A rs142601402 GATA6 Nonsynonymous SNV A343T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.4 124529 chr16 84520459 84520459 G A rs35684738 MEAK7 Synonymous SNV L246L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign 7.487 124530 chr16 84529303 84529303 T G rs11860785 MEAK7 Synonymous SNV R124R 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 5.335 124531 chr18 21269794 21269794 G A rs551915733 LAMA3 Synonymous SNV P49P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.44 124532 chr19 14164995 14164997 CCT - rs774396739 PALM3 E430del 0.001 0 0 0 1 0 0 0 0 0 0 0 124533 chr18 23619383 23619383 G A rs200938774 SS18 Synonymous SNV Y215Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.356 124534 chr7 82763618 82763618 T C PCLO Nonsynonymous SNV K1083R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.09 124535 chr12 96617431 96617431 C T rs754643863 ELK3 Synonymous SNV N29N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.88 124536 chr19 15289850 15289850 T A rs55882518 NOTCH3 Nonsynonymous SNV H1235L 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 Benign/Likely benign 14.76 124537 chr18 28972253 28972253 G A rs140750904 DSG4 Nonsynonymous SNV D319N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 23.5 124538 chr19 49901339 49901339 G A rs373838231 CCDC155 Nonsynonymous SNV A190T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 124539 chr12 97330545 97330545 A T NEDD1 Synonymous SNV T203T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.736 124540 chr18 29078220 29078220 G A rs368809971 DSG2 Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.48 124541 chr19 15580602 15580602 G A PGLYRP2 Synonymous SNV A494A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.17 124542 chr18 30349794 30349794 A G rs774924513 KLHL14 Nonsynonymous SNV M254T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 124543 chr19 15659002 15659002 G A CYP4F22 Nonsynonymous SNV R407H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124544 chr19 50215114 50215114 G A rs143478074 CPT1C Nonsynonymous SNV A639T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 23.7 124545 chr17 26919894 26919894 C T rs34977204 SPAG5 Nonsynonymous SNV G123D 0.005 0.008 0.01 0 6 3 0 3 0 0 0 0 Likely benign 0.002 124546 chr17 27076335 27076335 C T rs763108533 TRAF4 Nonsynonymous SNV R385C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 124547 chr17 27401105 27401105 G A rs78839711 TIAF1 Nonsynonymous SNV P38L 0.003 0 0 0 3 0 0 0 0 0 0 0 1.554 124548 chr19 15795688 15795688 T C rs201042177 CYP4F12 Synonymous SNV F327F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.154 124549 chr13 103390332 103390332 C T rs200872789 CCDC168 Nonsynonymous SNV E4239K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.381 124550 chr19 50796902 50796902 C T rs367824312 MYH14 Synonymous SNV N1768N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 124551 chr17 28706232 28706232 C T rs574500312 CPD Synonymous SNV G78G 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 14.28 124552 chr17 29214309 29214309 A G rs768492538 ATAD5 Nonsynonymous SNV I1393V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 124553 chr13 103528178 103528178 C T rs761650522 BIVM-ERCC5, ERCC5 Synonymous SNV L1162L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.11 124554 chr7 100486702 100486702 C A rs149499170 UFSP1 Nonsynonymous SNV G64V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 124555 chr19 16884122 16884122 G A rs146121969 NWD1 Nonsynonymous SNV G660S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.4 124556 chr18 43796356 43796356 G A rs140926806 C18orf25 Synonymous SNV K170K 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 5.912 124557 chr17 8218532 8218532 T C ARHGEF15 Synonymous SNV L399L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.631 124558 chr18 45556273 45556273 C T rs748317958 ZBTB7C Synonymous SNV K406K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 124559 chr19 51656344 51656346 GAT - SIGLEC7 D324del 0.001 0 0 0 1 0 0 0 0 0 0 0 124560 chr18 45566339 45566339 C T rs752738869 ZBTB7C Synonymous SNV P380P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 124561 chr13 113470426 113470426 C T rs140428971 ATP11A Synonymous SNV D157D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 124562 chr19 51871194 51871194 C T rs61736500 CLDND2 Nonsynonymous SNV D86N 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 14.86 124563 chr13 113622456 113622456 - GGG rs56024277 MCF2L-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 124564 chr16 89346837 89346837 T G rs370006772 ANKRD11 Nonsynonymous SNV K2038T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.47 124565 chr13 114453590 114453591 CG - rs562361699 LINC00552 0 0 0.007 0 0 0 0 2 0 0 0 0 124566 chr13 114453594 114453605 TGTGTGCATGCC - rs565137883 LINC00552 0 0 0.007 0 0 0 0 2 0 0 0 0 124567 chr17 34199349 34199349 T A CCL5 Nonsynonymous SNV Q130H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.071 124568 chr16 89789565 89789565 C G rs141480299 ZNF276 Nonsynonymous SNV T177R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.47 124569 chr18 54424200 54424200 A G rs142386120 WDR7 Synonymous SNV E792E 0.002 0 0.02 0 2 0 0 6 0 0 0 0 1.046 124570 chr19 52570237 52570237 G A rs759036918 ZNF841 Nonsynonymous SNV R184W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 124571 chr17 10302965 10302965 G A rs34953692 MYH8 Nonsynonymous SNV R1253C 0.009 0.013 0.01 3 11 5 0.008 3 0 0 0 0 Benign 25 124572 chr17 10348375 10348375 T C rs75173310 MYH4 Nonsynonymous SNV K1795R 0.009 0.013 0.01 3 11 5 0.008 3 0 0 0 0 13.24 124573 chr17 10399327 10399327 C T rs149731873 MYH1 Synonymous SNV R1703R 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.97 124574 chr19 18991172 18991172 G A rs535134210 CERS1 Synonymous SNV L123L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.75 124575 chr17 10432950 10432950 C T rs145796634 MYH2 Synonymous SNV L1016L 0.009 0.016 0.01 3 11 6 0.008 3 0 1 0 0 Likely benign 7.23 124576 chr19 17888954 17888954 A G rs146717245 FCHO1 Nonsynonymous SNV E373G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 124577 chr19 2041902 2041902 G A rs184346087 MKNK2 Synonymous SNV P294P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.871 124578 chr17 37565170 37565170 A C rs376797939 MED1 Nonsynonymous SNV S1102A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 124579 chr19 2042639 2042639 C T rs546219897 MKNK2 Synonymous SNV K207K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.6 124580 chr18 21136532 21136532 C G rs199693280 NPC1 Nonsynonymous SNV C334S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.111 124581 chr17 37884176 37884176 C A rs55943169 ERBB2 Nonsynonymous SNV A1216D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 124582 chr18 57106922 57106922 C T rs200772179 CCBE1 Nonsynonymous SNV R301Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 124583 chr19 18368186 18368186 G A rs141700088 IQCN Nonsynonymous SNV A1303V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 124584 chr17 16321032 16321032 G C rs3813768 TRPV2 Nonsynonymous SNV G17A 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 0.493 124585 chr17 16335343 16335343 A G rs748531161 TRPV2 Nonsynonymous SNV E573G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.662 124586 chr17 16347379 16347379 G A rs201264792 LRRC75A Nonsynonymous SNV L148F 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 9.741 124587 chr18 61569656 61569656 C T SERPINB2 Stop gain Q233X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 124588 chr18 29790520 29790520 G A rs9959396 MEP1B Nonsynonymous SNV V326M 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 6.347 124589 chr18 29795160 29795160 C T rs16962851 MEP1B Synonymous SNV H565H 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 6.613 124590 chr19 20728183 20728183 T C rs377319280 ZNF737 Nonsynonymous SNV K276E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 124591 chr18 29797790 29797790 C T rs112703073 MEP1B Synonymous SNV D651D 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 9.193 124592 chr19 3014607 3014607 G A rs199912249 TLE2 Synonymous SNV S106S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.835 124593 chr18 29867106 29867106 A G rs370032993 GAREM1 Nonsynonymous SNV V485A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 124594 chr18 29972977 29972977 C T rs375153984 GAREM1 Nonsynonymous SNV R48Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 33 124595 chr17 17697247 17697247 C T rs975392971 RAI1 Nonsynonymous SNV R329W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 124596 chr18 7037661 7037661 C G rs374075138 LAMA1 Nonsynonymous SNV Q551H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 124597 chr18 6976071 6976071 G A rs150849018 LAMA1 Synonymous SNV V2118V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15 124598 chr19 21720023 21720023 A G rs117126050 ZNF429 Nonsynonymous SNV I326V 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 13.68 124599 chr18 6982519 6982519 T C rs117433399 LAMA1 Nonsynonymous SNV N1956S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 124600 chr19 22154829 22154829 A T rs181871198 ZNF208 Nonsynonymous SNV C1003S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.6 124601 chr18 74091534 74091534 C T rs61733594 ZNF516 Nonsynonymous SNV G846R 0.003 0.01 0 0 4 4 0 0 0 0 0 0 23.3 124602 chr17 19317926 19317926 T A RNF112 Nonsynonymous SNV S321T 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 8.395 124603 chr13 48878107 48878107 C T rs587778637 RB1 Nonsynonymous SNV P20L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 124604 chr7 103808971 103808971 G A rs959464978 ORC5 Nonsynonymous SNV S276F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 124605 chr19 35550814 35550814 G A HPN Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 124606 chr19 30308425 30308425 A G rs113246237 CCNE1 Nonsynonymous SNV I132V 0.008 0.003 0.017 1 9 1 0.003 5 0 0 0 0 5.375 124607 chr18 77137317 77137317 G A rs200372514 ATP9B Synonymous SNV P1115P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.832 124608 chr17 40254324 40254324 G C rs146040109 DHX58 Stop gain Y587X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 39 124609 chr13 96743129 96743129 T C HS6ST3 Nonsynonymous SNV F5L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 124610 chr19 10088127 10088127 G A rs115676421 COL5A3 Nonsynonymous SNV P1050S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 25.1 124611 chr17 41719288 41719288 C T rs145290029 MEOX1 Nonsynonymous SNV S252N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.6 124612 chr19 37118420 37118420 A G ZNF382 Nonsynonymous SNV T540A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 124613 chr7 127253114 127253114 C T rs375472849 PAX4 Nonsynonymous SNV R226H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 124614 chr19 10259587 10259587 G A rs201213597 DNMT1 Nonsynonymous SNV T882I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.013 124615 chr19 10286289 10286289 G A rs62621089 DNMT1 Nonsynonymous SNV A176V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 124616 chr14 101005565 101005565 C T BEGAIN Nonsynonymous SNV A175T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 124617 chr19 56466271 56466271 C T rs561042891 NLRP8 Synonymous SNV L283L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.884 124618 chr19 374338 374338 A C rs150403020 THEG Nonsynonymous SNV L131R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 124619 chr14 102023921 102023921 G T rs561922730 DIO3OS 0 0 0.02 0 0 0 0 6 0 0 0 0 4.94 124620 chr7 130418402 130418402 C A rs138225855 KLF14 Synonymous SNV A153A 0.008 0.013 0.01 1 9 5 0.003 3 0 0 0 0 19.19 124621 chr19 1077974 1077974 C T rs758250463 ARHGAP45 Nonsynonymous SNV P70L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.21 124622 chr19 10792766 10792766 C T rs143592944 ILF3 Synonymous SNV P426P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.17 124623 chr19 3759730 3759730 G A rs138562152 APBA3 Nonsynonymous SNV T178M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 124624 chr19 36223185 36223185 G A rs758825515 KMT2B Nonsynonymous SNV R1912H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 124625 chr19 1113555 1113555 G A rs756728469 SBNO2 Synonymous SNV G685G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.73 124626 chr19 37644102 37644102 C T ZNF585A Synonymous SNV E233E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 124627 chr19 1122914 1122914 C T rs759400307 SBNO2 Synonymous SNV E196E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.39 124628 chr19 38023365 38023365 T C ZNF793 Synonymous SNV Y41Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.682 124629 chr17 45438846 45438846 G A rs201964228 EFCAB13 Nonsynonymous SNV R255H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.907 124630 chr17 4607653 4607653 T C rs761376515 LOC101559451 0.001 0 0 0 1 0 0 0 0 0 0 0 2.396 124631 chr19 38876170 38876170 G C rs148338405 GGN Nonsynonymous SNV R578G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 124632 chr19 11978657 11978657 G A rs183107896 ZNF439 Nonsynonymous SNV R122Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.007 124633 chr19 13869989 13869989 T A rs557191307 CCDC130 Nonsynonymous SNV L14H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 124634 chr14 20502069 20502069 A T rs372295387 OR4K13 Nonsynonymous SNV N283K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 124635 chr19 14589339 14589339 C T rs200558472 GIPC1 Synonymous SNV P200P 0.008 0.003 0 0 9 1 0 0 0 0 0 0 19.07 124636 chr19 1482151 1482151 - G PCSK4 Frameshift insertion R626Afs*71 0.001 0 0 1 1 0 0.003 0 0 0 0 0 124637 chr19 59073535 59073535 G T rs146120851 MZF1 Nonsynonymous SNV H703Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 124638 chr14 20779829 20779829 A C rs753586297 CCNB1IP1 Nonsynonymous SNV F238L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 124639 chr17 4848297 4848297 G C rs117872328 RNF167 Nonsynonymous SNV V312L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.012 124640 chr19 1360346 1360346 C T rs577420555 PWWP3A Synonymous SNV D74D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 124641 chr14 20903914 20903914 G C rs1016763015 KLHL33 Synonymous SNV P19P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.376 124642 chr19 39995976 39995976 G T DLL3 Nonsynonymous SNV L326F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 124643 chr19 14042820 14042820 C T rs140715588 PODNL1 Nonsynonymous SNV E518K 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 16.13 124644 chr19 14519890 14519890 T C DDX39A Nonsynonymous SNV N409S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.38 124645 chr14 21074013 21074013 C T rs114323727 LOC254028 0 0 0.007 0 0 0 0 2 0 0 0 0 3.976 124646 chr7 142920054 142920054 C T rs145138257 TAS2R40 Stop gain Q295X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 124647 chr14 21074083 21074083 A T rs114009031 LOC254028 0 0 0.017 0 0 0 0 5 0 0 0 0 7.922 124648 chr19 1456368 1456368 C G rs142402932 APC2 Nonsynonymous SNV P260A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.3 124649 chr17 48917675 48917675 C T WFIKKN2 Synonymous SNV T249T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 124650 chr19 15302587 15302587 G T rs373744631 NOTCH3 Synonymous SNV T257T 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 3.501 124651 chr19 15302790 15302790 G A rs114457076 NOTCH3 Synonymous SNV Y220Y 0.008 0.013 0.007 4 9 5 0.01 2 0 0 0 0 Benign/Likely benign 0.009 124652 chr19 39401405 39401405 G A CCER2 Nonsynonymous SNV A170V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 124653 chr19 39915493 39915493 A T rs150340180 PLEKHG2 Synonymous SNV P1181P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 124654 chr7 149517749 149517749 C T rs201013359 SSPO 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.95 124655 chr19 41860638 41860638 G A rs542445852 B9D2 Synonymous SNV L165L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.773 124656 chr19 7964518 7964518 G A rs778339202 LRRC8E Nonsynonymous SNV D242N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.7 124657 chr17 5433803 5433803 T C rs150677537 NLRP1 Nonsynonymous SNV Q1143R 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.21 124658 chr17 38173139 38173139 T C rs765324783 CSF3 Nonsynonymous SNV V145A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14 124659 chr7 150094867 150094867 G A rs373589647 ZNF775 Nonsynonymous SNV G433E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 124660 chr19 16799021 16799021 G A rs145844119 TMEM38A Nonsynonymous SNV V247M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.56 124661 chr14 23874851 23874851 C T rs77679218 MYH6 Synonymous SNV A110A 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 17.28 124662 chr17 5462913 5462913 C G rs145383615 NLRP1 Nonsynonymous SNV S368T 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.55 124663 chr19 41220498 41220498 C T COQ8B Nonsynonymous SNV G14R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 124664 chr7 151800376 151800376 G C rs188934556 GALNT11 Nonsynonymous SNV C200S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.347 124665 chr17 39186225 39186225 C T rs559679217 KRTAP1-4 Nonsynonymous SNV G36R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 124666 chr19 17535755 17535755 G A rs141364761 MVB12A Nonsynonymous SNV V259M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 124667 chr19 41945795 41945795 G A rs139204637 DMAC2 Nonsynonymous SNV P4S 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 9.129 124668 chr19 41949227 41949227 G A rs190183661 ERICH4 Synonymous SNV L51L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.627 124669 chr19 42224063 42224063 T C rs375804916 CEACAM5 Synonymous SNV Y569Y 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 124670 chr19 4267681 4267681 C T rs149224144 YJU2 Nonsynonymous SNV R257W 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 27.8 124671 chr17 60758288 60758288 G A rs200537279 MRC2 Synonymous SNV A867A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 124672 chr19 12767448 12767448 C T rs149613968 MAN2B1 Synonymous SNV R527R 0.006 0.003 0 7 7 1 0.018 0 0 0 0 0 Benign/Likely benign 18.59 124673 chr14 37641878 37641878 C T rs1404 SLC25A21-AS1 0 0 0.031 0 0 0 0 9 0 0 0 0 8.546 124674 chr17 62122808 62122808 T C ERN1 Nonsynonymous SNV D855G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 124675 chr17 6374593 6374593 C T rs200137929 PITPNM3 Synonymous SNV S468S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 124676 chr17 39681203 39681203 G A rs267607655 KRT19 Synonymous SNV N184N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 not provided 11.99 124677 chr14 50255869 50255869 C T rs774722348 NEMF Nonsynonymous SNV D943N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 124678 chr19 18727850 18727850 G A rs61731609 TMEM59L Nonsynonymous SNV R201H 0.004 0.013 0 0 5 5 0 0 0 0 0 0 9.275 124679 chr7 117232638 117232638 A G rs397508375 CFTR Nonsynonymous SNV D806G 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 24.7 124680 chr19 9072561 9072561 G A rs184811119 MUC16 Nonsynonymous SNV T4962I 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 7.061 124681 chr17 40820246 40820246 G A rs144895713 PLEKHH3 Nonsynonymous SNV P761S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.42 124682 chr7 127015053 127015053 T C rs764399837 ZNF800 Nonsynonymous SNV I113V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.056 124683 chr14 55477098 55477098 C T rs375834361 WDHD1 Synonymous SNV L90L 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 13.69 124684 chr19 45767982 45767982 C T MARK4 Synonymous SNV Y132Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 124685 chr19 45797665 45797665 C T rs144086640 MARK4 Nonsynonymous SNV P518L 0.005 0.008 0 0 6 3 0 0 0 0 0 0 23.1 124686 chr14 55642696 55642696 A G rs150759912 DLGAP5 Nonsynonymous SNV C364R 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 0.454 124687 chr19 23543873 23543873 G A rs141572875 ZNF91 Synonymous SNV G604G 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 2.971 124688 chr14 57114193 57114193 T C rs150654769 TMEM260 Nonsynonymous SNV L701P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 124689 chr7 128843430 128843430 G A rs755206422 SMO Synonymous SNV T179T 0 0 0 2 0 0 0.005 0 0 0 0 0 17.1 124690 chr19 24310620 24310620 A G ZNF254 Synonymous SNV E521E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.027 124691 chr14 58937349 58937349 A G rs760936908 KIAA0586 Nonsynonymous SNV I681V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 124692 chr19 21477325 21477325 A T rs77583547 ZNF708 Nonsynonymous SNV V84D 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 124693 chr19 30021094 30021094 G C rs115230064 VSTM2B Synonymous SNV S222S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 9.01 124694 chr19 23543867 23543867 A G ZNF91 Synonymous SNV A606A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 124695 chr17 43226776 43226776 C T rs750499219 HEXIM1 Synonymous SNV P73P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.952 124696 chr8 18725364 18725364 C T rs573668110 PSD3 Nonsynonymous SNV R452H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 124697 chr19 2425194 2425194 C T rs367911032 TMPRSS9 Nonsynonymous SNV P937L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.4 124698 chr8 19363162 19363162 G A CSGALNACT1 Stop gain Q62X 0 0.005 0 0 0 2 0 0 0 0 0 0 37 124699 chr19 2877392 2877392 C T rs138176298 ZNF556 Nonsynonymous SNV R145W 0.002 0 0 0 2 0 0 0 0 0 0 0 17.94 124700 chr8 21956096 21956096 G A rs145516741 FAM160B2 Nonsynonymous SNV A310T 0.005 0.026 0.02 6 6 10 0.015 6 0 0 0 0 25.6 124701 chr19 46394531 46394531 G A rs752079720 MYPOP Nonsynonymous SNV R184W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 124702 chr17 72353331 72353331 G A rs191617895 BTBD17 Nonsynonymous SNV A301V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 124703 chr17 72443027 72443027 G A rs139477313 GPRC5C Nonsynonymous SNV A396T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 124704 chr8 22380220 22380220 A G rs765027970 PPP3CC Nonsynonymous SNV I301V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.46 124705 chr19 35556794 35556794 T C rs781547307 HPN Nonsynonymous SNV V358A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 124706 chr1 109808782 109808782 C T rs780448568 CELSR2 Synonymous SNV T1989T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.03 124707 chr8 24348315 24348315 T A ADAM7 Nonsynonymous SNV C424S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 124708 chr19 48558300 48558300 G T rs201093662 PLA2G4C Synonymous SNV R432R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.44 124709 chr14 75137553 75137553 C T rs1018485619 AREL1 Nonsynonymous SNV R507H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 124710 chr19 36224210 36224210 C A rs763536557 KMT2B Nonsynonymous SNV P2254T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 124711 chr19 36230870 36230870 A G rs144495330 IGFLR1 Synonymous SNV P154P 0.01 0.008 0.014 0 12 3 0 4 0 0 0 0 0.281 124712 chr17 73754637 73754637 C T GALK1 Synonymous SNV R279R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 124713 chr1 112305578 112305580 ATG - rs538821511 DDX20 M423del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 124714 chr19 37037881 37037881 T G rs372917053 ZNF529 Nonsynonymous SNV I509L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 124715 chr19 49912468 49912468 C T rs911950627 CCDC155 Synonymous SNV A358A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.65 124716 chr14 78043256 78043256 T C SPTLC2 Nonsynonymous SNV Y162C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 124717 chr14 80164124 80164124 C A rs372453004 NRXN3 Synonymous SNV I251I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 124718 chr19 501720 501720 C T rs372191773 MADCAM1 Nonsynonymous SNV S240F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.96 124719 chr1 114940385 114940385 G C TRIM33 Nonsynonymous SNV P1073R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 124720 chr17 7417118 7417118 T C POLR2A Synonymous SNV S1845S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.756 124721 chr8 37823945 37823945 G A ADRB3 Nonsynonymous SNV P15S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.46 124722 chr19 20807154 20807154 T C ZNF626 Nonsynonymous SNV N510S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 124723 chr19 50750293 50750293 G A MYH14 Nonsynonymous SNV G407R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 124724 chr1 1164032 1164032 C G SDF4 Nonsynonymous SNV V48L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.57 124725 chr17 7483801 7483801 A G rs200407589 CD68 Synonymous SNV V168V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 124726 chr8 41792007 41792007 G C KAT6A Nonsynonymous SNV A1244G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.641 124727 chr19 51052015 51052015 G A rs190220944 LRRC4B Synonymous SNV L27L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 9.742 124728 chr17 75471872 75471872 G C SEPTIN9 Nonsynonymous SNV G91A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.795 124729 chr19 38591808 38591808 C T rs151323710 SIPA1L3 Synonymous SNV I657I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 124730 chr14 94849460 94849460 G T rs138070585 SERPINA1 Nonsynonymous SNV H39N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.002 124731 chr19 37643721 37643721 C T rs146669317 ZNF585A Synonymous SNV G360G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.166 124732 chr19 38968499 38968499 C T rs141317474 RYR1 Synonymous SNV N1481N 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign/Likely benign 11.56 124733 chr19 50926874 50926874 C T rs971798486 SPIB Nonsynonymous SNV P27S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 124734 chr1 12030800 12030800 G A rs150184664 PLOD1 Nonsynonymous SNV R610Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 124735 chr1 1222657 1222657 G A rs140170231 SCNN1D Nonsynonymous SNV D430N 0.007 0.01 0.003 4 8 4 0.01 1 0 0 0 0 4.656 124736 chr17 77984172 77984172 G A rs143618029 TBC1D16 Nonsynonymous SNV T189M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 16.24 124737 chr8 82714665 82714665 C T SNX16 Synonymous SNV V267V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.17 124738 chr19 40541952 40541952 C G ZNF780B Nonsynonymous SNV A272P 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 124739 chr19 52447769 52447769 G A rs79726751 ZNF613 Synonymous SNV K211K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.307 124740 chr15 101099108 101099108 C A PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.205 124741 chr17 78182107 78182109 AGA - rs766775669 CARD14 K995del 0.002 0 0 0 2 0 0 0 0 0 0 0 124742 chr19 41018889 41018889 C A rs567442426 SPTBN4 Synonymous SNV A731A 0.008 0.008 0.003 3 9 3 0.008 1 1 0 0 0 Likely benign 16.8 124743 chr19 39592111 39592111 T C rs145176925 ACP7 Nonsynonymous SNV L308S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.948 124744 chr17 78345775 78345775 A G rs527844265 RNF213 Nonsynonymous SNV N4176S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.056 124745 chr15 23807209 23807209 C T rs898588081 MIR4508 0 0 0.003 0 0 0 0 1 0 0 0 0 6.898 124746 chr19 4013192 4013192 C T rs2289867 PIAS4 Nonsynonymous SNV P100L 0.003 0 0 0 4 0 0 0 0 0 0 0 16.3 124747 chr19 42852556 42852556 G T MEGF8 Nonsynonymous SNV V744L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.676 124748 chr17 79804472 79804472 C T rs746018643 P4HB Nonsynonymous SNV D297N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.8 124749 chr19 408157 408157 G T rs200204713 C2CD4C Nonsynonymous SNV L69M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.89 124750 chr19 52659677 52659677 C T rs764010233 ZNF836 Nonsynonymous SNV G420D 0.001 0 0 0 1 0 0 0 0 0 0 0 25 124751 chr19 40957316 40957316 G C rs145609085 BLVRB Nonsynonymous SNV R140G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 24.1 124752 chr17 80041240 80041240 G A rs775171713 FASN Synonymous SNV N1801N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.457 124753 chr15 31330000 31330000 C T rs200684841 TRPM1 Nonsynonymous SNV E846K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 124754 chr8 10469109 10469109 C T rs373310698 RP1L1 Synonymous SNV P833P 0 0.008 0 3 0 3 0.008 0 0 0 0 0 Benign 12.15 124755 chr15 33010513 33010513 C T rs142114172 LOC100131315 0 0 0.017 0 0 0 0 5 0 0 0 0 13.1 124756 chr8 11415498 11415498 A T rs138333004 BLK Nonsynonymous SNV D256V 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 11.25 124757 chr8 11418856 11418856 C T rs146505280 BLK Nonsynonymous SNV R288C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Pathogenic 34 124758 chr15 33993250 33993250 C T rs748718316 RYR3 Nonsynonymous SNV A2151V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 124759 chr15 34546655 34546655 G A rs77122016 SLC12A6 Nonsynonymous SNV R323C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 124760 chr15 39545032 39545032 T G rs156783 C15orf54 0 0 0.041 0 0 0 0 12 0 0 6 0 6.958 124761 chr8 123966062 123966062 G T rs201110609 ZHX2 Nonsynonymous SNV R771L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.5 124762 chr19 42224018 42224018 G A rs146162368 CEACAM5 Synonymous SNV R554R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.785 124763 chr15 40590098 40590098 C T rs61755437 PLCB2 Synonymous SNV S406S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 124764 chr1 153912709 153912709 G C DENND4B Nonsynonymous SNV S520C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 124765 chr19 42525611 42525611 C T rs147887966 GRIK5 Synonymous SNV E571E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 124766 chr8 125527987 125527991 TTGAG - rs745323688 TATDN1 L82Ifs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 124767 chr19 44081413 44081413 G A rs140145910 PINLYP Nonsynonymous SNV G24R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.04 124768 chr15 41060160 41060162 TCT - rs955076292 DNAJC17 E297del 0 0 0.003 0 0 0 0 1 0 0 0 0 124769 chr19 44981459 44981459 T C rs144530001 ZNF180 Synonymous SNV Q388Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 124770 chr19 44238576 44238576 C A rs139642454 SMG9 Nonsynonymous SNV G356V 0.003 0 0 0 3 0 0 0 0 0 0 0 33 124771 chr15 41192215 41192215 G A rs769151051 VPS18 Nonsynonymous SNV R400H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 124772 chr19 54711368 54711368 G A rs370340900 RPS9 Synonymous SNV P129P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.26 124773 chr18 10666603 10666603 A G rs186914824 LOC101927410 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 3.736 124774 chr1 155290261 155290261 T A rs61740152 FDPS Nonsynonymous SNV L203Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 124775 chr8 133899190 133899190 G A rs140232663 TG Nonsynonymous SNV G525R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.692 124776 chr17 73517897 73517897 C T rs768278898 TSEN54 Synonymous SNV P245P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.39 124777 chr8 134125671 134125671 T A rs12114109 TG Nonsynonymous SNV F2526L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 24.7 124778 chr17 73761181 73761181 G T rs1001223598 GALK1 Nonsynonymous SNV L13M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 124779 chr1 156212360 156212360 T C rs35330985 BGLAP, PMF1-BGLAP Nonsynonymous SNV V125A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.95 124780 chr18 13884862 13884862 A G rs760942130 MC2R Nonsynonymous SNV I219T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 124781 chr19 45579614 45579614 G C rs754272190 ZNF296 Synonymous SNV A6A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.37 124782 chr15 42585099 42585099 A G rs16973015 GANC Nonsynonymous SNV I166V 0.009 0.01 0.014 4 11 4 0.01 4 0 0 0 0 Benign 0.451 124783 chr17 75398774 75398774 G A rs200031107 SEPTIN9 Nonsynonymous SNV R230Q 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign/Likely benign 12.1 124784 chr19 47575277 47575277 - C rs755492969 ZC3H4 Frameshift insertion D635Gfs*9 0.004 0 0 0 5 0 0 0 0 0 0 0 124785 chr19 47575279 47575279 - GGTGCATGTCC rs765564405 ZC3H4 Frameshift insertion D639Tfs*24 0.004 0 0 0 5 0 0 0 0 0 0 0 124786 chr19 47575291 47575291 A G rs79459609 ZC3H4 Synonymous SNV P630P 0.012 0.005 0.003 3 14 2 0.008 1 0 0 0 0 Benign 1.599 124787 chr19 47575294 47575294 A G rs78020601 ZC3H4 Synonymous SNV H629H 0.012 0.01 0.003 4 14 4 0.01 1 0 0 0 0 Benign 0.706 124788 chr19 47584869 47584869 C T rs73943616 ZC3H4 Synonymous SNV P447P 0.012 0.01 0.007 4 14 4 0.01 2 0 0 0 0 Benign 17.95 124789 chr19 47597755 47597755 T C rs768059500 ZC3H4 Nonsynonymous SNV H91R 0.004 0 0 0 5 0 0 0 0 0 0 0 23.1 124790 chr19 56465965 56465965 G A NLRP8 Nonsynonymous SNV G181S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 124791 chr18 31324766 31324766 G A rs17746949 ASXL3 Nonsynonymous SNV V1652M 0.029 0.036 0.02 10 34 14 0.026 6 1 0 0 0 0.189 124792 chr8 144620683 144620683 G T rs202188199 ZC3H3 Nonsynonymous SNV P285Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.033 124793 chr15 56130757 56130757 G T rs766876077 NEDD4 Nonsynonymous SNV P1040T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 124794 chr19 46351076 46351076 G T rs746471156 SYMPK Nonsynonymous SNV P204T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 124795 chr19 49309937 49309937 T C rs201148940 BCAT2 Nonsynonymous SNV H46R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.768 124796 chr15 63548712 63548712 T C rs140507303 RAB8B Synonymous SNV S111S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.239 124797 chr17 78445555 78445555 C T rs377120879 NPTX1 Nonsynonymous SNV V352M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 34 124798 chr1 161163907 161163907 C T rs149334492 ADAMTS4 Nonsynonymous SNV D456N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 124799 chr19 49949912 49949912 G A rs149419497 PIH1D1 Nonsynonymous SNV R243C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 124800 chr19 5866719 5866719 G A rs771727730 FUT5 Nonsynonymous SNV R340W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.1 124801 chr19 50124870 50124870 A G PRR12 Synonymous SNV P1904P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.845 124802 chr18 55373793 55373793 C T rs34719006 ATP8B1 Nonsynonymous SNV D70N 0.007 0.005 0.014 4 8 2 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 17.92 124803 chr19 48878933 48878933 C T rs34058038 SYNGR4 Nonsynonymous SNV P132L 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 11.68 124804 chr19 48967789 48967789 C A rs35593185 KCNJ14 Nonsynonymous SNV P356T 0.002 0.005 0.014 0 2 2 0 4 0 0 0 0 24 124805 chr19 49002919 49002919 G A LMTK3 Synonymous SNV T498T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.861 124806 chr19 58453244 58453244 A C rs138289125 ZNF256 Nonsynonymous SNV L311R 0.003 0 0 4 4 0 0.01 0 0 0 0 0 10.09 124807 chr19 6040160 6040160 G A rs150537865 RFX2 Nonsynonymous SNV T118I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 124808 chr15 72454630 72454630 G C GRAMD2A Nonsynonymous SNV P349A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.126 124809 chr17 80545021 80545021 G A rs139592674 FOXK2 Synonymous SNV P553P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.3 124810 chr17 80726401 80726401 G C rs201980005 TBCD Nonsynonymous SNV A181P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.507 124811 chr19 58928592 58928592 A G ZNF584 Nonsynonymous SNV H191R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 124812 chr19 51563271 51563271 T C rs537179612 KLK13 Nonsynonymous SNV I107V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 124813 chr19 7445820 7445820 G A rs536249774 ARHGEF18 Nonsynonymous SNV C221Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.131 124814 chr19 7533891 7533891 G A rs117824875 ARHGEF18 Nonsynonymous SNV A979T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.27 124815 chr19 6480028 6480028 C T rs372498127 DENND1C Nonsynonymous SNV E18K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 124816 chr19 7712287 7712287 G C rs35490401 STXBP2 Nonsynonymous SNV R526P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 124817 chr19 5223251 5223251 C A rs199604489 PTPRS Nonsynonymous SNV R829L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.4 124818 chr19 5243976 5243976 G A rs61729781 PTPRS Synonymous SNV L489L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.214 124819 chr19 7267600 7267600 C T INSR Synonymous SNV L136L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.058 124820 chr19 7542228 7542228 C T rs144230456 PEX11G Nonsynonymous SNV V126M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 124821 chr19 51361850 51361850 C G rs61729813 KLK3 Nonsynonymous SNV S210W 0.003 0 0.007 0 3 0 0 2 0 0 0 0 16.58 124822 chr15 83357931 83357931 G A rs199578774 AP3B2 Synonymous SNV N81N 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Likely benign 10.1 124823 chr19 8028508 8028508 G A rs760717037 ELAVL1 Synonymous SNV N280N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.856 124824 chr19 51563188 51563188 G A rs35833234 KLK13 Synonymous SNV V134V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.43 124825 chr15 85175018 85175020 AGA - SCAND2P 0 0 0.003 0 0 0 0 1 0 0 0 0 124826 chr18 21736772 21736772 C G rs147349985 CABYR Nonsynonymous SNV S338C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 4.789 124827 chr18 77623947 77623947 C T rs199712127 KCNG2 Nonsynonymous SNV R94W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 124828 chr1 176659541 176659541 G A rs182831354 PAPPA2 Synonymous SNV P802P 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 11.26 124829 chr1 176926816 176926816 C T rs144761357 ASTN1 Nonsynonymous SNV V629M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 124830 chr18 7955127 7955127 G A rs148967648 PTPRM Nonsynonymous SNV V283I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 124831 chr9 34662623 34662623 C T rs141733148 CCL27 Nonsynonymous SNV G3E 0.005 0.005 0.003 1 6 2 0.003 1 1 0 0 0 17.92 124832 chr19 53553826 53553826 G A rs191985458 ERVV-2 Nonsynonymous SNV R441K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 124833 chr19 52375994 52375994 T C ZNF577 Nonsynonymous SNV M417V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 124834 chr9 35720827 35720827 G A rs150744632 TLN1 Synonymous SNV I396I 0 0.005 0 0 0 2 0 0 0 0 0 0 12.83 124835 chr9 35806118 35806118 C T rs371968545 NPR2 Nonsynonymous SNV R754W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 24.9 124836 chr9 35869709 35869709 C T rs754774203 OR13J1 Synonymous SNV S230S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.574 124837 chr19 10116515 10116515 G A rs928793696 COL5A3 Nonsynonymous SNV P132S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 124838 chr19 52941620 52941620 T C rs781038015 ZNF534 Nonsynonymous SNV C275R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 124839 chr19 10426420 10426420 C T FDX2 Nonsynonymous SNV G57E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 124840 chr19 9062631 9062631 A C rs201558618 MUC16 Nonsynonymous SNV L8272R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.094 124841 chr15 90801405 90801405 T C rs61732731 TTLL13P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.005 124842 chr19 9066332 9066332 C T rs367616073 MUC16 Synonymous SNV G7038G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.844 124843 chr1 183543733 183543733 C A rs779573048 NCF2 Nonsynonymous SNV M130I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.83 124844 chr15 91433462 91433462 C G rs200860946 FES Nonsynonymous SNV P339R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 124845 chr19 53553266 53553266 T C ERVV-2 Synonymous SNV Y254Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 124846 chr18 46476780 46476780 T C SMAD7 Synonymous SNV K5K 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.162 124847 chr19 9076429 9076429 G C rs369653663 MUC16 Nonsynonymous SNV P3673A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.023 124848 chr19 55593465 55593465 T C rs377304711 EPS8L1 Synonymous SNV L176L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.788 124849 chr9 86004552 86004552 A G rs34533756 FRMD3 Synonymous SNV F73F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.157 124850 chr19 11526614 11526614 T C rs868233226 RGL3 Synonymous SNV T212T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.186 124851 chr9 86900990 86900990 T G rs140335341 SLC28A3 Synonymous SNV G439G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.099 124852 chr18 52544965 52544965 G A rs377291150 RAB27B Nonsynonymous SNV R50H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 29.2 124853 chr9 89771569 89771569 G A rs76452933 C9orf170 0.009 0.016 0.024 6 11 6 0.015 7 0 0 0 0 0.003 124854 chr16 1115729 1115729 C A SSTR5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.647 124855 chr1 100214192 100214192 A T rs143932371 FRRS1 Nonsynonymous SNV S45T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.29 124856 chr19 54973877 54973877 G T LENG9 Nonsynonymous SNV A300E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.012 124857 chr16 11792165 11792165 A T TXNDC11 Nonsynonymous SNV V94D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.754 124858 chr1 103388907 103388907 C T rs143651470 COL11A1 Synonymous SNV G1097G 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.88 124859 chr19 14517213 14517213 G A rs140048136 ADGRE5 Nonsynonymous SNV S538N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 124860 chr9 99327684 99327684 T C rs369525797 CDC14B Nonsynonymous SNV E44G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 124861 chr1 109377580 109377580 G A rs148000920 AKNAD1 Synonymous SNV N545N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.143 124862 chr9 100437847 100437847 G A rs368677003 XPA Synonymous SNV S232S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.57 124863 chr1 10703326 10703326 C T rs769832846 CASZ1 Nonsynonymous SNV R1304Q 0.002 0 0 0 2 0 0 0 0 0 0 0 33 124864 chr19 55614812 55614812 G A rs34297590 PPP1R12C Synonymous SNV H232H 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 4.067 124865 chr1 109192959 109192959 G A rs142977292 HENMT1 Synonymous SNV V210V 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 5.141 124866 chr19 56658535 56658535 G T ZNF444 Synonymous SNV P85P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.412 124867 chr1 109741216 109741216 C T rs199906517 KIAA1324 Synonymous SNV S469S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.81 124868 chr19 15364524 15364524 G T rs765788287 BRD4 Synonymous SNV R743R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.928 124869 chr16 1840841 1840841 C T rs774115726 IGFALS Synonymous SNV P564P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.872 124870 chr9 111868858 111868858 T C rs187886126 TMEM245 Synonymous SNV V243V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.49 124871 chr16 19718430 19718430 G A rs751309837 KNOP1 Synonymous SNV P370P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.612 124872 chr16 2012359 2012359 G A rs763915541 SNORA10 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.965 124873 chr19 56204400 56204400 G A rs199812536 EPN1 Nonsynonymous SNV A395T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.89 124874 chr16 2049848 2049848 G A rs760949574 ZNF598 Nonsynonymous SNV R568C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.1 124875 chr1 114640393 114640393 C T rs142164979 SYT6 Nonsynonymous SNV A491T 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Uncertain significance 23.7 124876 chr1 111969199 111969199 C T rs747502450 OVGP1 Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 124877 chr1 205495233 205495233 C T rs17850752 CDK18 Nonsynonymous SNV T166M 0.011 0 0.007 7 13 0 0.018 2 0 0 0 0 34 124878 chr1 116206623 116206623 G A rs143094973 VANGL1 Synonymous SNV V180V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.83 124879 chr1 113159486 113159486 T G ST7L Nonsynonymous SNV K79N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 124880 chr19 56538454 56538454 C T rs570980138 NLRP5 Synonymous SNV H285H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.938 124881 chr1 114424476 114424476 C T BCL2L15 Synonymous SNV V131V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.54 124882 chr19 17321596 17321596 G A rs199522818 MYO9B Nonsynonymous SNV G1957S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 124883 chr1 1179833 1179833 T C rs749276715 C1QTNF12 Synonymous SNV T74T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.834 124884 chr9 116930862 116930862 G A rs755477387 COL27A1 Nonsynonymous SNV G343S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 124885 chr19 58867794 58867794 T C rs200391359 ZNF497 Nonsynonymous SNV H403R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.005 124886 chr19 56720438 56720438 A G rs201238284 ZSCAN5C Nonsynonymous SNV N454D 0.003 0 0 0 3 0 0 0 0 0 0 0 5.724 124887 chr19 58906084 58906084 C T rs144955468 RPS5 Synonymous SNV D194D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.52 124888 chr9 117119235 117119235 C T rs62640057 AKNA Synonymous SNV A799A 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 15.68 124889 chr16 2819163 2819163 T C rs149101693 SRRM2 Synonymous SNV S2633S 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Benign 0.001 124890 chr1 209795942 209795942 C G rs200322380 LAMB3 Nonsynonymous SNV Q880H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 124891 chr19 57089370 57089370 G A rs140617949 ZNF470 Nonsynonymous SNV A525T 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 3.557 124892 chr19 17445898 17445898 A C rs767985631 GTPBP3 Nonsynonymous SNV D29A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.877 124893 chr1 117617987 117617987 C A rs200709421 TTF2 Nonsynonymous SNV L261I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 124894 chr16 28844673 28844673 T G rs141936417 ATXN2L Synonymous SNV A657A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 12.66 124895 chr1 11769399 11769399 G A DRAXIN Synonymous SNV L173L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.48 124896 chr16 28905547 28905547 C T rs41292388 ATP2A1 Synonymous SNV Y264Y 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.72 124897 chr16 2983426 2983426 G A rs116358574 FLYWCH1 Synonymous SNV T364T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.182 124898 chr16 29845269 29845269 C A rs113616507 MVP Synonymous SNV P153P 0.013 0.01 0.01 6 15 4 0.015 3 0 0 0 0 18.34 124899 chr16 30381257 30381268 GCCGGGGCTGGG - rs570394259 TBC1D10B P80_A83del 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 124900 chr19 17942584 17942584 T C rs200855932 JAK3 Nonsynonymous SNV M902V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 124901 chr16 30958481 30958481 G A rs61738491 FBXL19 Nonsynonymous SNV R672Q 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 23 124902 chr19 582580 582580 C T rs762369160 BSG 0.001 0 0 0 1 0 0 0 0 0 0 0 2.884 124903 chr16 31091390 31091390 C T rs35376811 ZNF646 Nonsynonymous SNV R1249W 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 24.9 124904 chr16 31123533 31123533 G A rs531966645 BCKDK Nonsynonymous SNV V396I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 124905 chr9 125512908 125512908 T G rs137892977 OR1L6 Nonsynonymous SNV F261C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 124906 chr19 19216477 19216477 G A rs760915278 SLC25A42 Synonymous SNV Q107Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.96 124907 chr19 19766244 19766244 C T ATP13A1 Nonsynonymous SNV R472Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 124908 chr19 2077006 2077006 G A rs758613979 MOB3A Nonsynonymous SNV P143L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 124909 chr16 3591826 3591826 C T rs775001927 NLRC3 Synonymous SNV X1066X 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 124910 chr16 3591913 3591913 A T rs771169585 NLRC3 Nonsynonymous SNV L1037H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 124911 chr19 8005990 8005990 T C rs145509783 TIMM44 Synonymous SNV P46P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 0.177 124912 chr19 2102223 2102223 C T rs201880859 AP3D1 Synonymous SNV T1137T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 124913 chr19 12691924 12691924 C T rs773377509 ZNF490 Nonsynonymous SNV R322Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.13 124914 chr9 32632940 32632940 A G rs139281774 TAF1L Nonsynonymous SNV W880R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 25 124915 chr19 6833210 6833210 G A rs117509372 VAV1 Synonymous SNV P476P 0.016 0.016 0.003 7 19 6 0.018 1 0 0 0 0 Benign 11.54 124916 chr16 46513162 46513162 C A rs36061876 ANKRD26P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.506 124917 chr1 151236498 151236498 G C rs139032841 PSMD4 Synonymous SNV V92V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 10.7 124918 chr16 47732476 47732476 C T rs12918964 PHKB Nonsynonymous SNV R1041W 0.005 0.008 0.003 4 6 3 0.01 1 0 0 0 0 Benign/Likely benign 28.4 124919 chr1 226784555 226784555 G A rs201231970 STUM Synonymous SNV P85P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.05 124920 chr19 7607533 7607533 G T rs373883256 PNPLA6 Nonsynonymous SNV G447W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.7 124921 chr19 7687702 7687702 G A rs764592634 XAB2 Synonymous SNV C439C 0.003 0 0 0 3 0 0 0 0 0 0 0 12.3 124922 chr16 50186890 50186890 G A rs570453581 TENT4B Synonymous SNV P9P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 124923 chr19 33072189 33072189 G A rs761684487 PDCD5 Nonsynonymous SNV A8T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.4 124924 chr19 8201279 8201279 C T rs75077069 FBN3 Synonymous SNV E446E 0.013 0.01 0.014 5 15 4 0.013 4 0 0 0 0 9.343 124925 chr19 8203188 8203188 G A rs34278476 FBN3 Synonymous SNV C346C 0.013 0.01 0.014 5 15 4 0.013 4 0 0 0 0 5.531 124926 chr16 56973205 56973205 C T rs200238021 HERPUD1 Nonsynonymous SNV T162I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 26.9 124927 chr16 57786508 57786508 C T rs34508238 KATNB1 Synonymous SNV P233P 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 18.98 124928 chr1 155291747 155291747 C T RUSC1 Synonymous SNV D61D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 124929 chr16 57789288 57789288 T C rs61729337 KATNB1 Nonsynonymous SNV V483A 0 0 0.014 0 0 0 0 4 0 0 0 0 12.11 124930 chr16 57938746 57938746 G A rs185729258 CNGB1 Synonymous SNV T836T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.83 124931 chr16 57965682 57965682 C T rs9925973 CNGB1 Synonymous SNV P485P 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 13.12 124932 chr1 155233072 155233072 G A rs768615621 CLK2 Synonymous SNV F251F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.41 124933 chr9 135204884 135204884 C T rs769620847 SETX Nonsynonymous SNV A701T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.355 124934 chr1 155736041 155736041 C T rs185584587 GON4L Nonsynonymous SNV V1075M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 124935 chr9 135538017 135538017 G A rs71503153 DDX31 Synonymous SNV N152N 0.003 0.008 0 0 3 3 0 0 0 0 0 0 5.083 124936 chr9 135932235 135932235 G A rs637435 GTF3C5 Nonsynonymous SNV D271N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.47 124937 chr1 155920230 155920230 C T ARHGEF2 Nonsynonymous SNV R916H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.7 124938 chr19 35823764 35823764 C T CD22 Synonymous SNV L117L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.13 124939 chr16 625953 625953 C A rs747036362 PIGQ Nonsynonymous SNV N268K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 124940 chr19 16551712 16551712 G A rs144923331 EPS15L1 Synonymous SNV D58D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.623 124941 chr19 36134525 36134525 C T rs148630931 ETV2 Synonymous SNV N102N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.598 124942 chr16 67201032 67201032 G T rs199742128 HSF4 Nonsynonymous SNV M212I 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 23.6 124943 chr19 17091357 17091357 G A rs376522096 CPAMD8 Nonsynonymous SNV A512V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 124944 chr16 67915284 67915284 C T rs149541951 EDC4 Nonsynonymous SNV S918L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 124945 chr9 137630361 137630361 G A rs61729545 COL5A1 Synonymous SNV A477A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.74 124946 chr16 68056276 68056276 A G rs34526775 DDX28 Nonsynonymous SNV L277P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 124947 chr1 234614698 234614698 C T rs941965 TARBP1 Nonsynonymous SNV S51N 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 3.666 124948 chr19 17212818 17212818 C T rs755593052 MYO9B Synonymous SNV D97D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.22 124949 chr1 158368679 158368679 G T rs140067092 OR10T2 Nonsynonymous SNV T193N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 124950 chr16 69143635 69143635 T C rs145640839 HAS3 Nonsynonymous SNV F113L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 124951 chr19 36594676 36594676 C G rs35811023 WDR62 Nonsynonymous SNV Q1316E 0.013 0.005 0.007 2 15 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 124952 chr1 235324242 235324242 G A RBM34 Nonsynonymous SNV P65L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.26 124953 chr1 235922523 235922523 T C rs34466404 LYST Synonymous SNV E2210E 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 0.05 124954 chr1 235933535 235933535 C G rs6665568 LYST Nonsynonymous SNV Q1949H 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 7.168 124955 chr1 235971802 235971802 G A rs16832868 LYST Synonymous SNV D772D 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 12.28 124956 chr1 235993565 235993565 T G rs11464 LYST Synonymous SNV G51G 0.005 0.008 0.014 3 6 3 0.008 4 0 0 0 0 Benign 9.85 124957 chr16 701217 701217 G T rs147330697 WDR90 Nonsynonymous SNV L229F 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 0.002 124958 chr1 100733825 100733825 C A RTCA Synonymous SNV I88I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 19.83 124959 chr1 158576243 158576243 C T rs140704584 OR10Z1 Synonymous SNV N5N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.921 124960 chr19 9083745 9083745 C A rs774042390 MUC16 Nonsynonymous SNV E2690D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.62 124961 chr1 1021382 1021382 G A rs201428293 C1orf159 Synonymous SNV R107R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.466 124962 chr1 109456984 109456984 G A rs184590650 GPSM2 Nonsynonymous SNV R406Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 124963 chr1 237947905 237947905 T C rs984942880 RYR2 Nonsynonymous SNV V4298A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 2.688 124964 chr1 237955496 237955496 A G rs768299786 RYR2 Nonsynonymous SNV H4552R 0.002 0 0.003 5 2 0 0.013 1 0 0 0 0 Uncertain significance 0.004 124965 chr1 240656738 240656738 G T GREM2 Nonsynonymous SNV A13E 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 24 124966 chr19 9324590 9324590 G A rs10419202 OR7D4 Synonymous SNV A308A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.543 124967 chr19 9325018 9325018 A G rs116460228 OR7D4 Synonymous SNV L166L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 5.944 124968 chr16 74694880 74694880 A G rs780623055 RFWD3 Synonymous SNV S156S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.571 124969 chr16 76572099 76572099 G A rs182446426 CNTNAP4 Nonsynonymous SNV A899T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 124970 chr16 76902842 76902842 A G rs58353328 MIR4719 0 0 0.014 0 0 0 0 4 0 0 0 0 9.129 124971 chr1 111730899 111730899 G T rs143756679 DENND2D Nonsynonymous SNV A395E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.49 124972 chr1 161141712 161141712 G C rs146478151 B4GALT3 Nonsynonymous SNV P359R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.48 124973 chr1 110582075 110582075 C G rs762730931 STRIP1 Nonsynonymous SNV I78M 0.002 0 0 5 2 0 0.013 0 0 0 0 0 22.5 124974 chr1 1019297 1019297 G C rs773744819 C1orf159 Nonsynonymous SNV P313R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.403 124975 chr1 10239497 10239497 A G UBE4B Nonsynonymous SNV T1113A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 124976 chr1 161332203 161332203 A T rs200375156 SDHC Nonsynonymous SNV M111L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 124977 chr1 161953665 161953665 C A rs142349285 OLFML2B Nonsynonymous SNV A686S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 25.4 124978 chr16 81567513 81567513 C T rs182722204 MIR7854 0 0 0.017 0 0 0 0 5 0 0 0 0 4.19 124979 chr16 82033121 82033121 G A rs376864086 SDR42E1 Synonymous SNV P259P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.657 124980 chr19 39915555 39915555 G A rs753599994 PLEKHG2 Nonsynonymous SNV S1261N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 124981 chr16 82722537 82722537 G C rs16958290 MIR8058 0 0 0.027 0 0 0 0 8 0 0 0 0 2.762 124982 chr1 163039267 163039270 TAAA - rs770517308 RGS4 N96Rfs*14 0.002 0.003 0 0 2 1 0 0 0 0 0 0 124983 chr1 113059936 113059936 G A WNT2B Nonsynonymous SNV R200H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 124984 chr1 113161678 113161678 C A ST7L Nonsynonymous SNV V20F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.914 124985 chr19 21607221 21607221 C T rs752387960 ZNF493 Nonsynonymous SNV T459I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.755 124986 chr19 40540744 40540744 A G rs772288887 ZNF780B Synonymous SNV C674C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.578 124987 chr19 21992461 21992461 C T rs147543020 ZNF43 Synonymous SNV V61V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.863 124988 chr10 7658041 7658041 C T rs72779162 ITIH5 Synonymous SNV V67V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.35 124989 chr19 40886987 40886987 G T rs79330270 HIPK4 Nonsynonymous SNV T304N 0.007 0.003 0.014 1 8 1 0.003 4 1 0 0 0 0.002 124990 chr1 115829364 115829364 G A rs754287903 NGF Nonsynonymous SNV A18V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 28 124991 chr1 166905942 166905942 C T rs780442017 ILDR2 Nonsynonymous SNV V197I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 124992 chr1 166974347 166974347 A C MAEL Nonsynonymous SNV K197T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 124993 chr1 117619355 117619355 C T rs61737095 TTF2 Nonsynonymous SNV L495F 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Benign 21.4 124994 chr10 13178784 13178784 C T rs1003009434 OPTN Nonsynonymous SNV P551L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.3 124995 chr19 2810443 2810443 C T rs200506785 THOP1 Nonsynonymous SNV R533W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 124996 chr1 117661046 117661046 G A rs776584624 TRIM45 Nonsynonymous SNV R278W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 124997 chr1 110557413 110557413 G A rs142587513 AHCYL1 Synonymous SNV E156E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.855 124998 chr16 86589474 86589474 C G rs74412077 FLJ30679 0 0 0.007 0 0 0 0 2 0 0 0 0 5.296 124999 chr1 171605725 171605725 C A rs146606638 MYOC Synonymous SNV T285T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14 125000 chr19 42219082 42219082 C T rs782198510 CEACAM5 Nonsynonymous SNV T206I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 125001 chr19 3119021 3119021 C T rs138168314 GNA11 Synonymous SNV Y235Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.425 125002 chr1 111726098 111726098 G A rs111626110 CEPT1 Synonymous SNV T340T 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 13.54 125003 chr1 120286620 120286620 C A rs151275800 PHGDH Nonsynonymous SNV A520E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.66 125004 chr19 42873802 42873802 G A rs761677916 MEGF8 Nonsynonymous SNV R2187H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 125005 chr1 1231862 1231862 C T rs563840123 ACAP3 Nonsynonymous SNV R427H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 125006 chr19 44056273 44056273 C A rs2307173 XRCC1 Synonymous SNV V326V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 19.44 125007 chr1 1267729 1267729 T C rs370117959 TAS1R3 Nonsynonymous SNV L273P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 125008 chr1 26392870 26392870 C T rs142710853 TRIM63 Nonsynonymous SNV R74H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 125009 chr1 12726317 12726317 C T rs58218425 AADACL4 Synonymous SNV D265D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.02 125010 chr1 145522824 145522824 C T rs145202646 PEX11B Nonsynonymous SNV R215C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 33 125011 chr10 23326251 23326251 G T ARMC3 Nonsynonymous SNV G558V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.3 125012 chr1 114255942 114255943 TT - rs752774650 PHTF1 K250Sfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 125013 chr1 27023155 27023155 A C rs922383490 ARID1A Synonymous SNV G87G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 125014 chr16 89187237 89187237 A C ACSF3 Synonymous SNV V120V 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.091 125015 chr1 114524167 114524167 G A rs756243366 OLFML3 Nonsynonymous SNV V272I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 125016 chr1 27683968 27683968 C T rs55990440 MAP3K6 Nonsynonymous SNV A1053T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 125017 chr1 27875742 27875742 G A rs533069538 AHDC1 Nonsynonymous SNV P962L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 125018 chr1 17682581 17682581 G A rs757419432 PADI4 Nonsynonymous SNV V472M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.9 125019 chr16 90096053 90096055 CTT - rs74265472 GAS8-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 125020 chr1 181724387 181724387 C T rs373094161 CACNA1E Synonymous SNV C1262C 0.003 0 0 0 3 0 0 0 0 0 0 0 15.5 125021 chr16 984003 984003 G C rs73483808 LMF1 Nonsynonymous SNV R35G 0 0 0.01 0 0 0 0 3 0 0 1 0 0.06 125022 chr10 32096595 32096595 G A rs137966750 ARHGAP12 Synonymous SNV F792F 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 8.339 125023 chr1 117695862 117695862 G A rs145818315 VTCN1 Nonsynonymous SNV S76L 0.011 0.01 0.003 0 13 4 0 1 0 0 0 0 24.3 125024 chr1 180366671 180366672 TA - ACBD6 H214Qfs*3 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 125025 chr1 152883275 152883275 G C rs777790813 IVL Nonsynonymous SNV E334D 0.002 0 0 4 2 0 0.01 0 0 0 0 0 13.57 125026 chr10 35897452 35897452 C T rs563606358 GJD4 Synonymous SNV R337R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.426 125027 chr1 181701996 181701996 G A rs373971175 CACNA1E Nonsynonymous SNV R906H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.1 125028 chr17 12656660 12656660 A T MYOCD Synonymous SNV A685A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 125029 chr1 185984476 185984476 C A rs776501578 HMCN1 Nonsynonymous SNV P1606T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.3 125030 chr1 182491163 182491163 A T RGSL1 Nonsynonymous SNV E617V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 17.37 125031 chr1 186278178 186278178 C T rs751539819 PRG4 Synonymous SNV L975L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.275 125032 chr17 14110324 14110324 A G rs147675776 COX10 Nonsynonymous SNV I376V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 125033 chr1 153751869 153751869 G T rs111292643 SLC27A3 Nonsynonymous SNV A599S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 125034 chr1 120465262 120465262 C T rs17024517 NOTCH2 Nonsynonymous SNV V1667I 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 Likely benign 2.481 125035 chr1 192778246 192778246 C T rs745440695 RGS2 Synonymous SNV P15P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.98 125036 chr1 1854575 1854575 C A rs137997736 CFAP74 Nonsynonymous SNV R1511L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.069 125037 chr1 38079386 38079386 C T rs372861038 RSPO1 Synonymous SNV P205P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.238 125038 chr1 1266806 1266806 G T rs969315845 TAS1R3 Nonsynonymous SNV Q27H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.085 125039 chr17 18055493 18055493 C G rs200355614 MYO15A Nonsynonymous SNV T2654S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.628 125040 chr19 48259049 48259049 G A rs147769263 NOP53 Synonymous SNV S422S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.952 125041 chr17 19645417 19645417 T C rs752901351 ALDH3A1 Nonsynonymous SNV M197V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 125042 chr1 156670334 156670334 C G rs139634170 CRABP2 Synonymous SNV L122L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.98 125043 chr1 43213947 43213947 C T rs763655582 P3H1 Nonsynonymous SNV V588M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 125044 chr19 49005800 49005800 G A LMTK3 Synonymous SNV P257P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 125045 chr9 135864546 135864546 C T rs147726410 GFI1B Synonymous SNV H203H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.852 125046 chr19 39591268 39591268 G A rs142633344 ACP7 Nonsynonymous SNV R185K 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 6.934 125047 chr1 15772155 15772155 G A rs140993290 CTRC Nonsynonymous SNV V235I 0.006 0.008 0 7 7 3 0.018 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 125048 chr19 40520452 40520452 T C ZNF546 Synonymous SNV H399H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.811 125049 chr1 158592867 158592867 C T rs188580757 SPTA1 Nonsynonymous SNV R2009H 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 26.5 125050 chr19 4174685 4174685 G A rs753077829 SIRT6 Nonsynonymous SNV R234W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 125051 chr1 159846372 159846372 G A rs77150830 CFAP45 Synonymous SNV D442D 0.01 0.005 0.007 12 12 2 0.031 2 0 0 0 0 5.829 125052 chr19 42090786 42090786 A C CEACAM21 Nonsynonymous SNV K263Q 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 7.057 125053 chr1 20302201 20302201 C T rs34568801 PLA2G2A Nonsynonymous SNV R143H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.48 125054 chr1 153517266 153517266 G A rs377555124 S100A4 Nonsynonymous SNV A2V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 125055 chr1 16044467 16044467 G C rs201114976 PLEKHM2 Synonymous SNV L119L 0.003 0.005 0 6 3 2 0.015 0 0 0 0 0 Likely benign 9.621 125056 chr19 42874888 42874888 C T rs145886667 MEGF8 Synonymous SNV D2280D 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 16.93 125057 chr17 27291011 27291011 G A rs117179863 SEZ6 Synonymous SNV P403P 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 1 10.4 125058 chr1 154842200 154842208 GCTGCTGCT - KCNN3 Q78_Q80del 0.001 0 0 0 1 0 0 0 0 0 0 0 125059 chr1 154842208 154842208 - GCTGCT KCNN3 Q80_P81insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 125060 chr1 205027083 205027083 C T rs147074435 CNTN2 Synonymous SNV F35F 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Benign 14.4 125061 chr1 202715271 202715271 G A rs200210227 KDM5B Nonsynonymous SNV R688W 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 33 125062 chr1 160325526 160325526 C T rs201210604 NCSTN Synonymous SNV N340N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 125063 chr1 205033819 205033819 C T rs116647440 CNTN2 Nonsynonymous SNV T487I 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 Uncertain significance 24.2 125064 chr9 139749071 139749071 G C MAMDC4 Nonsynonymous SNV G293R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 125065 chr1 203018834 203018834 C G PPFIA4 Nonsynonymous SNV R484G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.5 125066 chr1 203186129 203186129 T C rs753992110 CHIT1 Nonsynonymous SNV N411S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 2.713 125067 chr19 44352264 44352264 G A rs191317922 ZNF283 Nonsynonymous SNV R365Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.021 125068 chr17 3030219 3030219 A C rs199669506 OR1G1 Nonsynonymous SNV I209M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 125069 chr1 16460392 16460392 G A EPHA2 Synonymous SNV A513A 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 6.177 125070 chr19 50476337 50476337 T C rs140485071 SIGLEC16 Synonymous SNV L467L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.261 125071 chr17 3214314 3214314 G A rs231677 OR3A4P 0 0 0.065 0 0 0 0 19 0 0 2 0 6.013 125072 chr17 32483078 32483078 G A rs61748942 ASIC2 Synonymous SNV H158H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.093 125073 chr1 162741818 162741818 C T rs144293078 DDR2 Synonymous SNV C503C 0.006 0.01 0 5 7 4 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.886 125074 chr17 3352131 3352131 C T rs142224518 SPATA22 Synonymous SNV L171L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.012 125075 chr1 204978729 204978729 A G NFASC Nonsynonymous SNV I934V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.9 125076 chr1 55166079 55166079 T C rs201020637 MROH7 Nonsynonymous SNV I535T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.2 125077 chr10 81697824 81697824 G A rs777015271 SFTPD Synonymous SNV V304V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 9.42 125078 chr17 33772246 33772246 C T rs115889903 SLFN13 Nonsynonymous SNV D152N 0.009 0.003 0.01 3 10 1 0.008 3 0 0 0 0 4.139 125079 chr1 20517561 20517561 C T rs755058256 UBXN10 Synonymous SNV A169A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 125080 chr1 55474048 55474048 G A rs138955530 BSND Nonsynonymous SNV R237H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.83 125081 chr1 20654463 20654463 C G rs61739563 VWA5B1 Nonsynonymous SNV S408R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 125082 chr1 156670733 156670733 G A CRABP2 Nonsynonymous SNV T61I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 29.6 125083 chr1 156821742 156821742 G A rs55881234 INSRR Synonymous SNV F293F 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 9.665 125084 chr1 169364344 169364344 G C rs951714054 CCDC181 Nonsynonymous SNV Q491E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 125085 chr1 209785148 209785148 C T rs17316402 CAMK1G Synonymous SNV N309N 0.006 0.003 0.017 5 7 1 0.013 5 0 0 0 0 14.75 125086 chr19 52468477 52468477 G A rs771994012 ZNF350 Nonsynonymous SNV A410V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 125087 chr1 214557685 214557685 C A rs12239356 PTPN14 Nonsynonymous SNV V505F 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 3.836 125088 chr17 3716467 3716467 T C rs201770458 NCBP3 Synonymous SNV Q578Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 125089 chr1 17326989 17326989 G A rs145515028 ATP13A2 Nonsynonymous SNV A244V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.67 125090 chr10 94388596 94388596 G C KIF11 Nonsynonymous SNV E417Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 125091 chr1 63894794 63894794 T C rs116660078 ALG6 Synonymous SNV Y441Y 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 Benign/Likely benign 0.039 125092 chr10 95263065 95263065 G A rs199894468 CEP55 Nonsynonymous SNV V127I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.791 125093 chr1 220151951 220151951 G A rs755360790 EPRS1 Synonymous SNV R1340R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 125094 chr19 45567797 45567797 C G CLASRP Nonsynonymous SNV R378G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 125095 chr10 96044622 96044622 G A rs369632735 PLCE1 Synonymous SNV L1337L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 7.735 125096 chr1 159558202 159558202 T G APCS Nonsynonymous SNV F126V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 125097 chr17 38936670 38936670 G A KRT27 Nonsynonymous SNV A189V 0 0 0.003 0 0 0 0 1 0 0 0 0 28 125098 chr1 176863704 176863704 G A ASTN1 Synonymous SNV T978T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.25 125099 chr19 45856040 45856040 G A rs16979773 ERCC2 Synonymous SNV G622G 0.002 0.008 0.003 4 2 3 0.01 1 0 0 0 0 Benign/Likely benign 15.33 125100 chr1 6653635 6653635 G A rs77005859 KLHL21 Synonymous SNV D528D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 125101 chr1 216420277 216420277 T C rs34447581 USH2A Nonsynonymous SNV N820S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.003 125102 chr1 159898793 159898793 T C rs376320222 IGSF9 Synonymous SNV S795S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.156 125103 chr1 217604530 217604530 C T rs550232203 GPATCH2 Nonsynonymous SNV S515N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.78 125104 chr1 160321939 160321939 A G rs151088893 NCSTN Synonymous SNV Q313Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.844 125105 chr17 39135066 39135066 C A rs189066032 KRT40 Stop gain E396X 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 46 125106 chr17 39140507 39140507 A G rs201719050 KRT40 Nonsynonymous SNV S7P 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 1.694 125107 chr1 220311280 220311280 G A rs775353772 IARS2 Synonymous SNV P690P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 125108 chr1 22056281 22056281 C T rs201971084 USP48 Nonsynonymous SNV G406R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.2 125109 chr1 22181441 22181441 G A rs760054736 HSPG2 Synonymous SNV L2012L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.313 125110 chr10 99376491 99376491 C A MORN4 Nonsynonymous SNV R79L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 34 125111 chr17 39616422 39616422 G A rs149710564 KRT32 Synonymous SNV T429T 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 10.5 125112 chr1 1691173 1691173 C T rs780055359 NADK Synonymous SNV A144A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.92 125113 chr10 103559168 103559168 C T OGA Nonsynonymous SNV G361R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.4 125114 chr1 85930690 85930690 G C rs577658938 DDAH1 Synonymous SNV A13A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.901 125115 chr1 1957151 1957151 C T rs373608463 GABRD Synonymous SNV P148P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 15.52 125116 chr10 105362954 105362954 T C rs199610107 SH3PXD2A Nonsynonymous SNV E555G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 125117 chr1 183212412 183212412 G A rs140649374 LAMC2 Synonymous SNV R1153R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.77 125118 chr1 228295467 228295467 G A rs200917701 MRPL55 Nonsynonymous SNV H44Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.185 125119 chr10 30638183 30638183 G C rs745315628 MTPAP Nonsynonymous SNV L8V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.043 125120 chr10 111878432 111878432 A G rs754629258 ADD3 Nonsynonymous SNV I219V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.5 125121 chr1 230841745 230841745 A G AGT Nonsynonymous SNV L353P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 125122 chr1 228495177 228495177 C T rs372059649 OBSCN Synonymous SNV G4137G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.84 125123 chr1 915450 915450 G A PERM1 Synonymous SNV S320S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.255 125124 chr1 228509429 228509429 C T rs750216069 OBSCN Nonsynonymous SNV R4963C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 125125 chr1 201180100 201180100 C T rs4915223 IGFN1 Nonsynonymous SNV R2027W 0.008 0.005 0.01 1 9 2 0.003 3 0 0 0 0 22.9 125126 chr19 49930341 49930341 C T GFY Synonymous SNV D218D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.024 125127 chr1 231125863 231125863 G A rs35764859 ARV1 Nonsynonymous SNV G101E 0.007 0.008 0.01 3 8 3 0.008 3 0 0 0 0 Benign 25.5 125128 chr19 507771 507771 G A TPGS1 Nonsynonymous SNV G89S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 125129 chr19 56703332 56703332 T A ZSCAN5B Stop gain R159X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 125130 chr1 200956207 200956207 G A rs144609175 KIF21B Synonymous SNV D1177D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.658 125131 chr1 23239964 23239964 C G EPHB2 Synonymous SNV L896L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.284 125132 chr10 121436095 121436095 C A rs117972572 BAG3 Synonymous SNV R343R 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.58 125133 chr19 56733460 56733460 C T rs142326109 ZSCAN5A Synonymous SNV P208P 0.015 0.01 0.01 4 18 4 0.01 3 0 0 0 0 10.84 125134 chr1 180165582 180165582 C T rs140386908 QSOX1 Nonsynonymous SNV R552W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 125135 chr19 57088596 57088596 C T rs183436320 ZNF470 Stop gain Q267X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 125136 chr1 235904875 235904875 A C rs147539199 LYST Synonymous SNV S2735S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Likely benign 1.547 125137 chr1 235964371 235964371 C G rs199898370 LYST Nonsynonymous SNV G1247R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.29 125138 chr20 13251150 13251150 G T rs200335961 ISM1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 125139 chr1 237863575 237863575 G A RYR2 Nonsynonymous SNV A3059T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.366 125140 chr17 48753045 48753045 G A rs34502058 ABCC3 Nonsynonymous SNV R923Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.51 125141 chr1 241959627 241959627 T C rs371182381 WDR64 Synonymous SNV D1049D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.013 125142 chr1 236882230 236882230 G A rs777124854 ACTN2 Nonsynonymous SNV R93Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 125143 chr1 237730032 237730032 A G rs200525962 RYR2 Nonsynonymous SNV E1127G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 125144 chr19 58290705 58290705 T G rs184974888 ZNF586 Stop gain L208X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.57 125145 chr1 1848043 1848043 T C rs775171208 CALML6 Nonsynonymous SNV V64A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.92 125146 chr1 205027316 205027316 A G rs144767577 CNTN2 Nonsynonymous SNV M75V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 8.925 125147 chr1 185880865 185880865 A G rs777446811 HMCN1 Nonsynonymous SNV K285E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 125148 chr1 205180611 205180611 G A rs202068245 DSTYK Nonsynonymous SNV P18L 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 20.8 125149 chr1 244756720 244756720 C G rs77232383 CATSPERE Nonsynonymous SNV S587W 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 125150 chr1 244803326 244803326 T C rs79338974 CATSPERE Synonymous SNV Y782Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 125151 chr1 244999023 244999023 G T rs201152357 COX20 Nonsynonymous SNV A3S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.31 125152 chr19 6381628 6381628 T C rs139987959 GTF2F1 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.54 125153 chr1 247320226 247320226 G A ZNF124 Nonsynonymous SNV P233L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 125154 chr1 247486512 247486512 G A rs201186610 ZNF496 Nonsynonymous SNV L199F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 125155 chr1 247587982 247587982 C T rs148478875 NLRP3 Synonymous SNV L413L 0.021 0.016 0.01 6 25 6 0.015 3 0 0 0 0 Benign 9.968 125156 chr17 57287425 57287425 G A rs142656435 SMG8 Nonsynonymous SNV V5M 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.8 125157 chr17 58663956 58663956 G A rs117476995 LINC01999 0 0 0.007 0 0 0 0 2 0 0 0 0 2.387 125158 chr10 134693123 134693123 G A rs533451445 CFAP46 Nonsynonymous SNV A1271V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.938 125159 chr10 134916258 134916258 G A rs765247097 ADGRA1 Nonsynonymous SNV A8T 0 0.003 0 0 0 1 0 0 0 0 0 0 33 125160 chr1 247835885 247835885 G C rs150242376 OR13G1 Synonymous SNV S153S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 4.712 125161 chr1 1956459 1956459 C T rs147463074 GABRD Synonymous SNV A49A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.87 125162 chr19 7533786 7533786 G A rs180746700 ARHGEF18 Nonsynonymous SNV G944S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.1 125163 chr17 61901532 61901532 A G rs146889707 FTSJ3 Nonsynonymous SNV S356P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 125164 chr1 210560916 210560916 G A HHAT Synonymous SNV L89L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.671 125165 chr17 62518821 62518821 G A rs201489853 CEP95 Synonymous SNV T75T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.364 125166 chr1 247769082 247769082 C A rs144188677 OR2G3 Nonsynonymous SNV N65K 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 26.3 125167 chr17 6328969 6328969 G A rs761845774 AIPL1 Synonymous SNV R259R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 125168 chr20 31572967 31572967 C T rs1043046005 SUN5 Nonsynonymous SNV E308K 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 28.9 125169 chr1 200944027 200944027 C T rs140999969 KIF21B Synonymous SNV A1530A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 125170 chr1 201047095 201047095 T G rs748021245 CACNA1S Nonsynonymous SNV I511L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 13.66 125171 chr1 22188302 22188302 C T rs368801694 HSPG2 Nonsynonymous SNV G1636R 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 35 125172 chr1 21551899 21551899 T G rs199733557 ECE1 Synonymous SNV P616P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.777 125173 chr19 8188387 8188387 C A FBN3 Nonsynonymous SNV G1015W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 125174 chr19 8188424 8188424 G A rs771593362 FBN3 Synonymous SNV C1002C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.073 125175 chr1 248084798 248084798 C T rs61857491 OR2T8 Nonsynonymous SNV A160V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.302 125176 chr20 3214737 3214737 C T rs149016022 SLC4A11 Nonsynonymous SNV R188Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 20.8 125177 chr1 220091656 220091656 T C rs376599710 SLC30A10 Nonsynonymous SNV K300R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.9 125178 chr1 220197663 220197663 C G rs35999099 EPRS1 Nonsynonymous SNV A296P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign 20.5 125179 chr11 605696 605696 - CCAGGCCCGTCT PHRF1 S480_V481insRPVS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 125180 chr11 792983 792983 T C SLC25A22 Nonsynonymous SNV K100R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.49 125181 chr11 798079 798079 G C rs994408767 PANO1 Nonsynonymous SNV G152R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.468 125182 chr1 26314747 26314747 A T rs952741320 PAFAH2 Nonsynonymous SNV F106I 0.001 0 0 0 1 0 0 0 0 0 0 0 30 125183 chr1 26361800 26361800 G A rs138251019 EXTL1 Nonsynonymous SNV V665M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 125184 chr1 222713485 222713485 C A rs760429004 HHIPL2 Synonymous SNV R439R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.846 125185 chr1 223178954 223178954 G A rs61740997 DISP1 Synonymous SNV T1405T 0.032 0.031 0.017 11 38 12 0.028 5 0 0 0 1 9.482 125186 chr1 26671585 26671585 C - CRYBG2 A522Lfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 125187 chr17 72351375 72351375 G A rs9675190 KIF19 Nonsynonymous SNV R974Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.9 125188 chr17 72363858 72363858 C - rs59375334 GPR142 P72Hfs*29 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 125189 chr17 72470784 72470784 G A CD300A Nonsynonymous SNV A52T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 125190 chr1 205290717 205290717 G A rs141798870 NUAK2 Nonsynonymous SNV P14S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 125191 chr1 28802734 28802734 G A PHACTR4 Nonsynonymous SNV E523K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 125192 chr1 29185721 29185721 G A rs546651989 OPRD1 Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 125193 chr1 206319193 206319196 TGTG - CTSE V32Tfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 125194 chr1 206319198 206319198 - GCCCAGC CTSE Stop gain Y33* 0.001 0 0 0 1 0 0 0 0 0 0 0 125195 chr1 226041377 226041377 G A rs75188792 TMEM63A Nonsynonymous SNV R584C 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 35 125196 chr20 42887207 42887207 C T rs141014072 GDAP1L1 Synonymous SNV T188T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 125197 chr1 31351510 31351510 A G rs113276656 SDC3 Synonymous SNV D72D 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 Benign 6.618 125198 chr17 73094164 73094164 C T rs61738943 SLC16A5 Synonymous SNV F77F 0.012 0.01 0.014 2 14 4 0.005 4 0 0 0 0 12.24 125199 chr17 73106432 73106432 C T rs74697881 ARMC7 Synonymous SNV L17L 0.011 0.008 0.014 1 13 3 0.003 4 0 0 0 0 14.34 125200 chr1 27220834 27220834 C T rs201761023 GPATCH3 Nonsynonymous SNV R315Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 125201 chr1 27994975 27994975 C T IFI6 Nonsynonymous SNV G48R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 125202 chr1 32479731 32479731 G A rs112917271 KHDRBS1 Synonymous SNV R45R 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 8.651 125203 chr1 32936678 32936678 G A rs1043656994 ZBTB8B Synonymous SNV A151A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.09 125204 chr1 22913111 22913111 C T rs56656925 EPHA8 Nonsynonymous SNV P321L 0 0 0 3 0 0 0.008 0 0 0 0 0 23 125205 chr1 31532244 31532244 G C PUM1 Nonsynonymous SNV A57G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 125206 chr17 74004752 74004752 C T rs200073444 EVPL Nonsynonymous SNV A1534T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 2.462 125207 chr1 32800640 32800640 G A rs144924064 MARCKSL1 Nonsynonymous SNV P49L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 125208 chr20 44987355 44987355 C A rs375407525 SLC35C2 Nonsynonymous SNV V4F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.15 125209 chr1 36784715 36784715 C G rs200744125 SH3D21 Synonymous SNV L160L 0.005 0 0 0 6 0 0 0 0 0 0 0 7.19 125210 chr1 38006347 38006347 C A rs776856243 SNIP1 Nonsynonymous SNV D113Y 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 27.2 125211 chr1 215901511 215901511 G A rs142381713 USH2A Nonsynonymous SNV T3976M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 125212 chr1 38265653 38265653 T C rs41267339 MANEAL Synonymous SNV Y162Y 0.017 0.003 0.007 3 20 1 0.008 2 0 0 0 0 11.64 125213 chr1 34643413 34643413 T C rs184414690 C1orf94 Nonsynonymous SNV V8A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.58 125214 chr1 35223719 35223719 G A rs201779144 GJB5 Nonsynonymous SNV R263H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.081 125215 chr1 22965759 22965759 G C C1QA Nonsynonymous SNV Q199H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 125216 chr1 40124833 40124833 C T rs780825544 NT5C1A Nonsynonymous SNV R356Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 125217 chr1 109840222 109840222 T C rs74116334 MYBPHL Synonymous SNV Q84Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 125218 chr1 24078372 24078372 C T rs141899107 ELOA Nonsynonymous SNV T452I 0.009 0 0.01 4 11 0 0.01 3 0 0 0 0 13.17 125219 chr1 110169868 110169868 G T AMPD2 Nonsynonymous SNV D243Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 125220 chr1 40928285 40928285 C T ZFP69B Nonsynonymous SNV P210L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.827 125221 chr20 56082847 56082847 A C rs775917061 CTCFL Nonsynonymous SNV I415S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.498 125222 chr1 110293310 110293310 C T rs35072794 EPS8L3 Nonsynonymous SNV R518Q 0.003 0 0.007 0 3 0 0 2 1 0 0 0 24.1 125223 chr1 233398749 233398749 T G rs143350155 PCNX2 Nonsynonymous SNV D105A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.13 125224 chr17 76556916 76556916 G A rs145608795 DNAH17 Nonsynonymous SNV A646V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 125225 chr10 115481528 115481528 G T rs115421189 CASP7 Synonymous SNV L97L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.18 125226 chr19 6039997 6039997 G A RFX2 Synonymous SNV P172P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.395 125227 chr1 42047282 42047282 G C rs146090509 HIVEP3 Nonsynonymous SNV P1063A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 125228 chr17 78064063 78064063 - A CCDC40 Frameshift insertion G987Rfs*107 0 0.003 0.007 0 0 1 0 2 0 0 1 0 125229 chr17 78064064 78064064 - GCACGTGCCCGAACAACACGGGACGCGCGCA CCDC40 Frameshift insertion H988Tfs*116 0 0 0.007 0 0 0 0 2 0 0 1 0 125230 chr17 7819092 7819092 G A rs76072033 RNF227 Nonsynonymous SNV A141V 0 0 0.014 0 0 0 0 4 0 0 0 0 18.18 125231 chr17 78316946 78316946 G A rs756735067 RNF213 Nonsynonymous SNV V2002M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 125232 chr17 78919546 78919546 G A rs145803652 RPTOR Synonymous SNV T877T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 125233 chr17 79094163 79094163 C T rs56360567 AATK Synonymous SNV A1088A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.67 125234 chr19 7125476 7125476 G A INSR Nonsynonymous SNV L1014F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 125235 chr1 43897440 43897440 C T rs756050426 SZT2 Synonymous SNV I1657I 0.002 0.013 0 0 2 5 0 0 0 0 0 0 Likely benign 12.96 125236 chr1 46743614 46743614 T C RAD54L Synonymous SNV F485F 0.003 0 0 0 3 0 0 0 0 0 0 0 2.129 125237 chr1 228871596 228871596 C T RHOU Nonsynonymous SNV P36L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 125238 chr1 45500083 45500083 C T rs145298923 ZSWIM5 Nonsynonymous SNV V784M 0.009 0.026 0.01 1 11 10 0.003 3 0 0 0 0 23.4 125239 chr1 22973910 22973910 C T rs151045868 C1QC Synonymous SNV V35V 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 8.161 125240 chr19 7680105 7680105 C T CAMSAP3 Nonsynonymous SNV R903W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 125241 chr1 46495566 46495566 G A rs758116217 MAST2 Nonsynonymous SNV R795H 0.003 0.013 0 0 3 5 0 0 0 0 0 0 34 125242 chr1 233807136 233807136 G T rs751441096 KCNK1 Nonsynonymous SNV V291L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 125243 chr1 54474656 54474656 C T rs765605418 LDLRAD1 Synonymous SNV X167X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.19 125244 chr1 11845274 11845274 G A rs529103225 C1orf167 Synonymous SNV R1165R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.52 125245 chr1 23520268 23520268 G A rs761191232 HTR1D Nonsynonymous SNV R149C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 125246 chr20 62328372 62328372 C T rs142858927 TNFRSF6B Synonymous SNV Y84Y 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.7 125247 chr1 236716888 236716888 G A rs6664730 HEATR1 Nonsynonymous SNV S2077L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.9 125248 chr18 10487825 10487825 C T rs374423135 APCDD1 Synonymous SNV D445D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.87 125249 chr1 14105953 14105953 A G rs763068985 PRDM2 Nonsynonymous SNV I354V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 125250 chr1 236914923 236914923 A G rs35997569 ACTN2 Nonsynonymous SNV M604V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 9.286 125251 chr18 14124404 14124404 T C ZNF519 Synonymous SNV Q25Q 0.007 0.005 0.034 3 8 2 0.008 10 0 0 0 0 0.011 125252 chr18 14124409 14124409 C A ZNF519 Nonsynonymous SNV A24S 0.003 0.003 0.024 2 3 1 0.005 7 0 0 0 0 7.471 125253 chr18 14124412 14124412 G T ZNF519 Nonsynonymous SNV P23T 0.003 0 0.024 0 3 0 0 7 0 0 0 0 0.001 125254 chr18 14124416 14124416 T C ZNF519 Synonymous SNV L21L 0.001 0 0.017 0 1 0 0 5 0 0 0 0 0.646 125255 chr18 20837268 20837268 C T rs752013669 CABLES1 Synonymous SNV F613F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 125256 chr1 146759387 146759387 A G rs148289715 CHD1L Nonsynonymous SNV I561M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.49 125257 chr1 242383359 242383359 G A rs375225001 PLD5 Synonymous SNV S14S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 13.72 125258 chr1 150772129 150772129 T C rs41271965 CTSK Synonymous SNV R225R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.526 125259 chr1 6189109 6189109 G A CHD5 Synonymous SNV R1136R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 125260 chr1 246729178 246729178 T C rs139718334 TFB2M Nonsynonymous SNV Y88C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.21 125261 chr21 36259324 36259324 A G rs111527738 RUNX1 Nonsynonymous SNV L29S 0.02 0.01 0.007 5 24 4 0.013 2 2 0 0 0 Benign 22.9 125262 chr1 64011657 64011657 A G rs41313264 EFCAB7 Nonsynonymous SNV Y292C 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 27.8 125263 chr1 27101635 27101635 C T ARID1A Synonymous SNV I1639I 0.003 0 0 0 3 0 0 0 0 0 0 0 10.69 125264 chr1 27105798 27105798 G A rs755727428 ARID1A Synonymous SNV E1803E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.157 125265 chr1 27434250 27434250 C T SLC9A1 Nonsynonymous SNV E391K 0.003 0 0 0 3 0 0 0 0 0 0 0 35 125266 chr1 154842156 154842156 G C rs751832980 KCNN3 Synonymous SNV P95P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.193 125267 chr1 67390438 67390438 C T rs147347299 WDR78 Nonsynonymous SNV G26D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.123 125268 chr1 155290155 155290155 C T rs757266060 RUSC1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 125269 chr1 31438872 31438872 G A rs10798816 PUM1 Synonymous SNV L681L 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 7.69 125270 chr1 32090643 32090643 C T rs761031053 HCRTR1 Synonymous SNV Y337Y 0.003 0 0 0 4 0 0 0 0 0 0 0 11.76 125271 chr1 32119622 32119622 G A rs191886026 COL16A1 Synonymous SNV S1460S 0.003 0 0 0 4 0 0 0 0 0 0 0 11.76 125272 chr1 32145693 32145693 C T rs41263969 COL16A1 Nonsynonymous SNV G874R 0.006 0.003 0 1 7 1 0.003 0 1 0 0 0 22.3 125273 chr18 44746326 44746326 T C SKOR2 Synonymous SNV Q991Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 125274 chr21 43824168 43824168 G A rs376032779 UBASH3A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 125275 chr21 43829694 43829694 G A rs141421753 UBASH3A Nonsynonymous SNV V111M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 125276 chr1 248185841 248185841 G C rs147372573 OR2L5 Nonsynonymous SNV V198L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.398 125277 chr1 33778143 33778143 C T rs371431028 A3GALT2 Nonsynonymous SNV M52I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.81 125278 chr1 33961073 33961073 G A rs183670019 ZSCAN20 Synonymous SNV S1043S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.98 125279 chr21 45656861 45656861 G A rs200561939 ICOSLG, LOC102723996 Nonsynonymous SNV R99C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 125280 chr1 248790266 248790266 G C rs138784683 OR2T11 Nonsynonymous SNV P55R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 125281 chr1 15821862 15821862 C T CASP9 Synonymous SNV P168P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 125282 chr1 36552840 36552840 G A rs146736752 TEKT2 Synonymous SNV T261T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 125283 chr11 28104769 28104769 C T rs777371509 KIF18A Nonsynonymous SNV V366I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.62 125284 chr1 89637546 89637546 A G GBP7 Nonsynonymous SNV S25P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 125285 chr1 89250482 89250484 TCT - rs201679232 PKN2 L227del 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 125286 chr1 897368 897368 C T rs1018375040 KLHL17 Synonymous SNV L218L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 125287 chr1 9064838 9064838 G A rs72644324 SLC2A7 Synonymous SNV I431I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 15.14 125288 chr1 40124935 40124935 C T rs190344471 NT5C1A Nonsynonymous SNV R322H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 125289 chr1 158943539 158943539 C T rs112218133 PYHIN1 Nonsynonymous SNV H488Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.358 125290 chr1 27994813 27994813 C T rs762901652 IFI6 Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 125291 chr21 48071819 48071819 G A rs369067617 PRMT2 Synonymous SNV A252A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.129 125292 chr11 44098924 44098924 G A rs147531492 ACCS Nonsynonymous SNV E218K 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 12.64 125293 chr1 91404560 91404560 T C rs372686470 ZNF644 Nonsynonymous SNV N784S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.002 125294 chr1 160000580 160000580 C T rs138769872 PIGM Nonsynonymous SNV C317Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 125295 chr11 46334456 46334456 G T CREB3L1 Synonymous SNV L339L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.75 125296 chr1 32660709 32660709 C T rs755259840 TXLNA Synonymous SNV V518V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.204 125297 chr1 93073240 93073240 C T rs141343784 EVI5 Synonymous SNV V608V 0.011 0.003 0.003 1 13 1 0.003 1 0 0 0 0 Benign 9.812 125298 chr11 47311026 47311026 G A rs140491853 MADD Nonsynonymous SNV G870D 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 26.4 125299 chr1 934635 934635 G A HES4 Nonsynonymous SNV A183V 0.004 0 0 0 5 0 0 0 0 0 0 0 13.96 125300 chr1 33237360 33237360 G A rs377045488 KIAA1522 Synonymous SNV P801P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.932 125301 chr11 47345819 47345819 C A rs370449676 MADD Synonymous SNV R1413R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 21.3 125302 chr1 33292306 33292306 C T rs202101652 S100PBP Synonymous SNV P202P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.382 125303 chr22 20819813 20819813 G A rs144466479 KLHL22 Synonymous SNV D148D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.113 125304 chr11 47463455 47463455 G A RAPSN Synonymous SNV L237L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.62 125305 chr18 72345797 72345797 T C rs771704650 ZNF407 Nonsynonymous SNV M941T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 125306 chr1 57258448 57258448 C G rs768309203 FYB2 Nonsynonymous SNV R13P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29 125307 chr1 45797157 45797157 G T rs144079536 MUTYH Nonsynonymous SNV L277M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 125308 chr1 36645502 36645502 C T rs140549558 MAP7D1 Synonymous SNV S745S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.73 125309 chr22 23523285 23523285 G T rs138513724 BCR Nonsynonymous SNV E46D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 24.2 125310 chr1 38227507 38227507 C T rs756274958 EPHA10 Synonymous SNV G140G 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.03 125311 chr1 167096926 167096926 A C rs61748778 DUSP27 Nonsynonymous SNV E853A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.65 125312 chr1 47131036 47131036 C T rs139074120 ATPAF1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 125313 chr20 17479534 17479534 G A rs142996076 BFSP1 Nonsynonymous SNV A171V 0.003 0.01 0.003 0 4 4 0 1 0 1 0 0 Benign 19.53 125314 chr1 169347643 169347643 C T rs201264138 BLZF1 Nonsynonymous SNV R182C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 125315 chr20 1559120 1559120 G T rs199879640 SIRPB1 Nonsynonymous SNV N99K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 125316 chr1 169499000 169499000 T C rs41272455 F5 Nonsynonymous SNV I1755M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.9 125317 chr1 1290066 1290066 G C rs533557025 MXRA8 Synonymous SNV G214G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.249 125318 chr1 169562901 169562901 T C rs370987018 SELP Nonsynonymous SNV I783M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.566 125319 chr22 28379597 28379597 G A rs986600100 TTC28 Nonsynonymous SNV R2020W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 125320 chr1 51756228 51756228 C G rs144699723 TTC39A Nonsynonymous SNV E23Q 0.005 0 0 3 6 0 0.008 0 0 0 0 0 0.316 125321 chr22 29704417 29704417 G A rs772163549 GAS2L1 Nonsynonymous SNV G108S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 125322 chr20 20271005 20271005 C T rs376954721 CFAP61 Synonymous SNV P1062P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.73 125323 chr1 145440644 145440644 G A rs782262889 TXNIP Nonsynonymous SNV V227I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.239 125324 chr22 30770141 30770141 C T rs545276697 KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 1.775 125325 chr22 30823250 30823250 G A rs9606726 MTFP1 Synonymous SNV P96P 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 9.646 125326 chr1 55271825 55271825 C G rs149086830 LEXM Synonymous SNV G12G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.31 125327 chr1 44468032 44468032 G A rs201467484 SLC6A9 Synonymous SNV G240G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 125328 chr1 45101296 45101296 G A rs77829471 RNF220 Synonymous SNV S104S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 19.95 125329 chr1 45252159 45252159 T C rs41306591 BEST4 Nonsynonymous SNV T153A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 125330 chr1 45269307 45269307 G A rs147444562 PLK3 Nonsynonymous SNV G370S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.591 125331 chr19 12430402 12430402 C T rs199878965 ZNF563 Nonsynonymous SNV R146H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 125332 chr1 176668407 176668407 T C PAPPA2 Nonsynonymous SNV F973S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 125333 chr20 20493838 20493838 C T rs199625894 RALGAPA2 Nonsynonymous SNV S1392N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.997 125334 chr1 152324932 152324932 G A rs770427724 FLG2 Nonsynonymous SNV T1777I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.12 125335 chr22 37912152 37912152 C T rs201107638 CARD10 Nonsynonymous SNV R176Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 20.3 125336 chr20 33578591 33578591 C T rs369018239 MYH7B Synonymous SNV F718F 0.005 0 0 1 6 0 0.003 0 0 0 0 0 18.04 125337 chr22 38220801 38220801 G A GALR3 Nonsynonymous SNV G144E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 125338 chr1 153949221 153949221 A C rs746469518 JTB Nonsynonymous SNV V51G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.26 125339 chr20 3652978 3652978 T C ADAM33 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 125340 chr19 16687033 16687033 C T rs200454256 MED26 Synonymous SNV P536P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.966 125341 chr19 16860868 16860868 C T rs200735264 NWD1 Nonsynonymous SNV A266V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 1.345 125342 chr22 40814950 40814950 C T rs199750225 MRTFA Nonsynonymous SNV V498M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 125343 chr19 17038859 17038859 G A rs543698501 CPAMD8 Synonymous SNV G1110G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.322 125344 chr1 55081840 55081840 T C rs201533192 FAM151A Nonsynonymous SNV I90V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 125345 chr19 17316101 17316101 G A rs201018459 MYO9B Nonsynonymous SNV V1674M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.4 125346 chr1 155148076 155148076 G A rs373079383 TRIM46 Nonsynonymous SNV R70H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.2 125347 chr20 31671336 31671336 C A rs137949815 BPIFB4 Synonymous SNV S111S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.63 125348 chr1 186296658 186296658 A G rs373373897 TPR Synonymous SNV D1941D 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 11.01 125349 chr20 377078 377078 G A rs56291463 TRIB3 Nonsynonymous SNV R274H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 125350 chr19 17411831 17411831 C T rs771338692 ABHD8 Nonsynonymous SNV V199M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 125351 chr19 17488022 17488022 G T rs761581948 PLVAP Nonsynonymous SNV R26S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 125352 chr1 156108341 156108341 G A rs80356813 LMNA Synonymous SNV L557L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign/Likely benign 11.25 125353 chr22 43570520 43570520 T C rs369903948 TTLL12 Nonsynonymous SNV H340R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 125354 chr22 44064909 44064909 G C rs142603983 EFCAB6 Nonsynonymous SNV Q401E 0.006 0.003 0.007 5 7 1 0.013 2 0 0 0 0 8.298 125355 chr1 19433208 19433208 T C rs921381056 UBR4 Nonsynonymous SNV N4083S 0.003 0 0 0 3 0 0 0 0 0 0 0 4.276 125356 chr1 6214935 6214935 G A rs139233286 CHD5 Nonsynonymous SNV P177L 0.001 0 0 0 1 0 0 0 0 0 0 0 29 125357 chr1 15668378 15668378 G C FHAD1 Nonsynonymous SNV E685Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.9 125358 chr20 44278003 44278003 G A rs766194770 WFDC11 Nonsynonymous SNV P46S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 125359 chr11 58190570 58190570 G T OR5B2 Synonymous SNV T55T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.406 125360 chr22 46134637 46134637 C T rs764404896 ATXN10 Synonymous SNV L243L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 125361 chr1 85648625 85648625 C T rs202166039 SYDE2 Nonsynonymous SNV R567Q 0.005 0 0 3 6 0 0.008 0 0 0 0 0 0.023 125362 chr20 37146613 37146613 A G RALGAPB Nonsynonymous SNV N463D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 125363 chr20 45000555 45000555 G T rs574674005 ELMO2 Nonsynonymous SNV N490K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 125364 chr20 372172 372172 T C rs140478143 TRIB3 Nonsynonymous SNV L178P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 125365 chr1 63997498 63997498 G C EFCAB7 Nonsynonymous SNV Q65H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 125366 chr1 64101994 64101994 G T rs373693932 PGM1 Synonymous SNV P339P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.315 125367 chr1 6485305 6485305 T A rs199562318 ESPN Nonsynonymous SNV V97E 0.003 0.008 0.007 2 3 3 0.005 2 0 1 0 0 Likely benign 26.2 125368 chr20 4680244 4680244 C T rs750491443 PRNP Synonymous SNV G126G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 125369 chr1 6659354 6659354 G A rs141248147 KLHL21 Nonsynonymous SNV R394C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 125370 chr19 21719262 21719262 G A rs200958386 ZNF429 Nonsynonymous SNV C72Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.464 125371 chr22 50278588 50278588 C T rs61731526 ZBED4 Synonymous SNV S426S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.454 125372 chr22 50315927 50315962 TCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCG - rs766926521 CRELD2 V198_S203del 0.001 0 0 0 1 0 0 0 0 0 0 0 125373 chr22 50315966 50315966 C G rs562885075 CRELD2 Nonsynonymous SNV S205C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 125374 chr1 201972510 201972510 C T rs140812387 RNPEP Synonymous SNV A234A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 125375 chr19 2917781 2917781 C T ZNF57 Stop gain Q356X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 125376 chr20 57014075 57014075 T G rs146459055 VAPB Nonsynonymous SNV D130E 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 Benign/Likely benign 17.1 125377 chr1 203192339 203192339 G T rs200777680 CHIT1 Nonsynonymous SNV R158S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.79 125378 chr1 203667317 203667317 C T rs756449111 ATP2B4 Nonsynonymous SNV R76C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 125379 chr1 91977394 91977394 C G rs13447503 CDC7 Nonsynonymous SNV F162L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.26 125380 chr1 161047375 161047375 G A rs752505099 NECTIN4 Nonsynonymous SNV R200C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 125381 chr1 161138933 161138933 C G rs12735723 PPOX Nonsynonymous SNV P223R 0.012 0.013 0.007 3 14 5 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 125382 chr11 17531093 17531093 G C rs41282932 USH1C Nonsynonymous SNV P608R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 125383 chr20 6022648 6022648 G A rs749914497 LRRN4 Nonsynonymous SNV R415C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.7 125384 chr19 3453857 3453857 C T rs201510249 NFIC Nonsynonymous SNV P456S 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 13.8 125385 chr11 64603237 64603237 G A CDC42BPG Synonymous SNV A585A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.607 125386 chr2 10580955 10580955 G A rs370233699 ODC1 Synonymous SNV P298P 0.003 0 0 5 4 0 0.013 0 0 0 0 0 6.632 125387 chr1 208061148 208061148 C T rs79500044 CD34 Nonsynonymous SNV G365S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 125388 chr19 35899069 35899071 TGA - rs142160831 LINC01531 0 0 0.02 0 0 0 0 6 0 0 0 0 125389 chr19 35899724 35899725 GG - rs749803068 LINC01531 0 0 0.014 0 0 0 0 4 0 0 0 0 125390 chr19 35899727 35899728 TG - rs768697363 LINC01531 0 0 0.014 0 0 0 0 4 0 0 0 0 125391 chr1 210415094 210415094 C G rs200557507 SERTAD4 Synonymous SNV A161A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.309 125392 chr20 31607482 31607482 C A rs144321606 BPIFB2 Synonymous SNV R336R 0 0 0 2 0 0 0.005 0 0 0 0 0 15.29 125393 chr20 57766383 57766383 C G rs147425916 ZNF831 Synonymous SNV T103T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.582 125394 chr20 31659927 31659927 A G rs45499201 BPIFB3 Synonymous SNV E426E 0.009 0.003 0.007 7 10 1 0.018 2 0 0 0 0 0.682 125395 chr20 32232380 32232380 C G rs115506243 CBFA2T2 Nonsynonymous SNV D572E 0 0 0 2 0 0 0.005 0 0 0 0 0 11.12 125396 chr1 214557998 214557998 C T rs12404313 PTPN14 Synonymous SNV S400S 0.011 0.018 0.014 6 13 7 0.015 4 0 0 0 0 Benign 10.84 125397 chr20 32251396 32251396 A G rs7260921 C20orf144 Nonsynonymous SNV Q62R 0.003 0.005 0.014 4 3 2 0.01 4 0 0 0 0 0.008 125398 chr20 32251508 32251522 GCGGCGGCAAGAGGC - rs143664136 C20orf144 Q102_R106del 0 0 0.007 2 0 0 0.005 2 0 0 0 0 125399 chr20 32255873 32255873 C T rs142321751 ACTL10 Synonymous SNV H190H 0 0 0 2 0 0 0.005 0 0 0 0 0 6.108 125400 chr19 38314911 38314911 C T rs117979701 LOC100631378 0 0 0.014 0 0 0 0 4 0 0 0 0 7.22 125401 chr1 173476027 173476027 C A rs746616630 SLC9C2 Nonsynonymous SNV A1065S 0.002 0.008 0 2 2 3 0.005 0 0 1 0 0 32 125402 chr1 173941715 173941715 G A rs763994793 RC3H1 Nonsynonymous SNV R385C 0.003 0.01 0 6 4 4 0.015 0 0 0 0 0 34 125403 chr20 62729284 62729284 G A rs145759308 OPRL1 Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.385 125404 chr20 62737214 62737214 C T rs200098936 NPBWR2 Nonsynonymous SNV R324Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.19 125405 chr1 21625272 21625272 C T rs755807530 ECE1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.102 125406 chr20 1223743 1223743 G C RAD21L1 Nonsynonymous SNV L362F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 125407 chr21 15599354 15599354 G A rs139439630 RBM11 Nonsynonymous SNV D203N 0.005 0 0 0 6 0 0 0 0 0 0 0 15.11 125408 chr19 39522549 39522549 G A FBXO27 Nonsynonymous SNV R107C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 125409 chr20 62187498 62187498 G A FNDC11 Nonsynonymous SNV R161Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.043 125410 chr20 30432486 30432486 G T rs148893203 FOXS1 Nonsynonymous SNV A287D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.9 125411 chr1 22169270 22169270 C T rs146428410 HSPG2 Nonsynonymous SNV R2969Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 125412 chr20 62293862 62293862 C T rs41297642 RTEL1 Nonsynonymous SNV T144I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 0.14 125413 chr1 22188328 22188328 C T rs41311989 HSPG2 Nonsynonymous SNV R1627H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.5 125414 chr19 41018775 41018775 C G SPTBN4 Nonsynonymous SNV S693R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 125415 chr20 31630646 31630646 C A rs151104041 BPIFB6 Nonsynonymous SNV T405N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 125416 chr21 34015766 34015766 A G SYNJ1 Synonymous SNV G1183G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 125417 chr20 31814235 31814235 A C BPIFA3 Nonsynonymous SNV Q151P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 125418 chr1 223284976 223284976 A C rs747925411 TLR5 Nonsynonymous SNV D466E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 125419 chr21 34889727 34889727 C T rs142142742 GART Nonsynonymous SNV V631M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 125420 chr2 141298594 141298594 C A LRP1B Synonymous SNV V2487V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.36 125421 chr2 141739845 141739845 G T LRP1B Nonsynonymous SNV A924D 0.002 0 0 0 2 0 0 0 0 0 0 0 24 125422 chr20 33719543 33719543 T C rs143005174 EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV Q212R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.79 125423 chr11 76829356 76829356 C T rs782714369 CAPN5 Synonymous SNV G375G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.93 125424 chr20 33760013 33760013 A C PROCR Nonsynonymous SNV Q19P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 125425 chr19 42400528 42400528 G A rs199751095 ARHGEF1 Nonsynonymous SNV S332N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.266 125426 chr20 45217841 45217841 C T rs143334841 SLC13A3 Nonsynonymous SNV R275Q 0.008 0.016 0.003 5 9 6 0.013 1 0 1 0 0 13.45 125427 chr21 16337084 16337084 A C rs61733441 NRIP1 Nonsynonymous SNV Y1144D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.1 125428 chr19 44273625 44273625 G T rs76935412 KCNN4 Nonsynonymous SNV H340N 0.005 0.003 0.017 4 6 1 0.01 5 0 0 0 0 28.8 125429 chr21 40571259 40571259 C T rs146332659 BRWD1 Nonsynonymous SNV D1695N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.05 125430 chr20 25196315 25196315 T A ENTPD6 Nonsynonymous SNV V8D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 125431 chr2 158594060 158594060 A G rs3738927 ACVR1 Synonymous SNV L505L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 1.242 125432 chr20 48741631 48741631 C T rs141058261 TMEM189 Synonymous SNV R256R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 21.4 125433 chr20 49366743 49366743 G T rs41283604 PARD6B Nonsynonymous SNV Q279H 0.011 0.003 0.007 3 13 1 0.008 2 0 0 0 0 0.021 125434 chr1 19412701 19412701 G A rs756082377 UBR4 Synonymous SNV N4917N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.01 125435 chr20 3026346 3026350 GCCCC - rs67749149 GNRH2 P114Ifs*4 0.003 0 0.01 0 3 0 0 3 0 0 0 0 125436 chr19 4494301 4494301 G A rs752949672 HDGFL2 Synonymous SNV E351E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 125437 chr19 4494302 4494302 C A rs756355754 HDGFL2 Synonymous SNV R352R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 125438 chr1 228879301 228879301 C T rs200494260 RHOU Synonymous SNV A197A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.03 125439 chr1 229730775 229730775 T C rs200240939 TAF5L Nonsynonymous SNV S347G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.317 125440 chr1 229770827 229770827 C T rs115641620 URB2 Nonsynonymous SNV S156L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 125441 chr20 31649627 31649627 T A rs147720727 BPIFB3 Nonsynonymous SNV L194H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.5 125442 chr21 45217978 45217978 G A rs201622848 RRP1 Nonsynonymous SNV A270T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.475 125443 chr2 16740728 16740728 A G rs202029542 FAM49A Synonymous SNV D279D 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 7.756 125444 chr21 45713024 45713024 A G rs149609996 AIRE Nonsynonymous SNV H415R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 0.007 125445 chr20 31761919 31761919 A G rs17304572 BPIFA2 Nonsynonymous SNV K113E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23 125446 chr21 45714287 45714287 G A rs7281600 AIRE Synonymous SNV T468T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 6.701 125447 chr20 32358018 32358018 G A rs148932241 ZNF341 Synonymous SNV S424S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 11.78 125448 chr20 32881908 32881908 T C rs11552695 AHCY Nonsynonymous SNV I92V 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.15 125449 chr20 33346695 33346695 G A rs146148388 NCOA6 Nonsynonymous SNV P186S 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Likely benign 17.44 125450 chr20 33370005 33370005 A G rs111988360 NCOA6 Nonsynonymous SNV F52L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.5 125451 chr20 333871 333871 G A rs34012633 NRSN2 Synonymous SNV G69G 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 Benign 0.755 125452 chr19 46122330 46122330 G C EML2 Nonsynonymous SNV S298R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 125453 chr20 33581180 33581180 G A rs187028260 MYH7B Nonsynonymous SNV R826H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 31 125454 chr19 46215599 46215599 G C rs372767578 FBXO46 Synonymous SNV T385T 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 1.384 125455 chr2 171822526 171822526 - C rs774388821 GORASP2 Frameshift insertion T350Hfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 125456 chr19 46282575 46282575 C T rs766012197 DMPK Nonsynonymous SNV D38N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 125457 chr19 46328571 46328571 G A rs559292104 SYMPK Nonsynonymous SNV T783M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 125458 chr21 43833167 43833167 C T rs912860310 UBASH3A Nonsynonymous SNV A130V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.4 125459 chr20 48523269 48523269 G A rs148068614 SPATA2 Synonymous SNV L150L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.135 125460 chr21 47532275 47532275 C T rs762436629 COL6A2 Synonymous SNV T166T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 17.11 125461 chr19 4689635 4689635 C T rs200229921 DPP9 Nonsynonymous SNV E566K 0.003 0.008 0.01 2 4 3 0.005 3 0 0 0 0 Benign 26.1 125462 chr1 203008236 203008236 C A rs79483487 PPFIA4 Nonsynonymous SNV L34M 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 23.3 125463 chr21 44474052 44474052 C T rs748953468 CBS, CBSL Nonsynonymous SNV G427R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 24.6 125464 chr20 56094332 56094332 G C CTCFL Nonsynonymous SNV L24V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 125465 chr2 179457904 179457904 T C rs886042123 TTN Synonymous SNV P10612P 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 0.514 125466 chr19 47969389 47969389 T C SLC8A2 Nonsynonymous SNV D91G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 125467 chr19 47979949 47979949 C T rs751987242 KPTN Nonsynonymous SNV R285Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.321 125468 chr20 42744452 42744452 C T rs754623679 JPH2 Synonymous SNV K621K 0.003 0 0 0 3 0 0 0 0 0 0 0 10.66 125469 chr1 204429698 204429698 G A rs139758981 PIK3C2B Nonsynonymous SNV R468C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 125470 chr1 20471183 20471183 G A rs145892952 PLA2G2F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.7 125471 chr20 44452706 44452706 C T rs201505970 TNNC2 Synonymous SNV E125E 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 16.48 125472 chr20 57829667 57829667 C A rs374322927 ZNF831 Nonsynonymous SNV P1635T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 125473 chr2 183995190 183995190 A G NUP35 Nonsynonymous SNV S86G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 125474 chr19 49218926 49218926 G C rs751653467 MAMSTR Nonsynonymous SNV L66V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.98 125475 chr22 20861990 20861990 G T MED15 Nonsynonymous SNV D9Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 125476 chr19 49387033 49387033 C T rs34182743 TULP2 Nonsynonymous SNV R418Q 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 27.6 125477 chr22 22036763 22036763 G A rs141435071 PPIL2 Nonsynonymous SNV R142Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 125478 chr20 49212021 49212021 T C rs61748618 RIPOR3 Synonymous SNV L645L 0.013 0.008 0.003 3 15 3 0.008 1 0 0 0 0 0.87 125479 chr19 49963020 49963020 C T ALDH16A1 Synonymous SNV D138D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 125480 chr20 49218870 49218870 C T rs78064464 RIPOR3 Synonymous SNV P466P 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 10.43 125481 chr20 49621160 49621160 C G rs750921918 KCNG1 Nonsynonymous SNV G320R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 125482 chr1 208391131 208391131 C T rs76008312 PLXNA2 Nonsynonymous SNV R46H 0.001 0.016 0 2 1 6 0.005 0 0 0 0 0 Benign 25.4 125483 chr11 121421324 121421324 C T rs148610920 SORL1 Synonymous SNV S737S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 125484 chr22 23610624 23610624 C T rs150919880 BCR Synonymous SNV F594F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.52 125485 chr19 50386282 50386282 T C TBC1D17 Nonsynonymous SNV L294P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 125486 chr2 197711870 197711870 G A rs149815494 PGAP1 Synonymous SNV A280A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 10.62 125487 chr1 248201609 248201609 T C rs759272748 OR2L2 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 125488 chr19 50839885 50839885 G T rs142503912 NAPSB 0 0 0.007 0 0 0 0 2 0 0 0 0 5.011 125489 chr19 51321714 51321714 A G rs3212844 LINC01869 0 0 0.048 0 0 0 0 14 0 0 0 0 8.791 125490 chr19 51321827 51321827 G A rs3212842 LINC01869 0 0 0.044 0 0 0 0 13 0 0 0 0 2.858 125491 chr20 947909 947909 C T rs6140807 RSPO4 Nonsynonymous SNV R106Q 0.003 0.008 0.027 3 4 3 0.008 8 0 0 0 0 Benign 22.8 125492 chr1 26085191 26085191 C T rs775118078 MAN1C1 Synonymous SNV F346F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.68 125493 chr22 25115850 25115850 A C rs368305582 PIWIL3 Nonsynonymous SNV F799L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 125494 chr1 22222455 22222455 G T rs1869780 HSPG2 Nonsynonymous SNV D68E 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 Benign/Likely benign 8.884 125495 chr22 31059769 31059769 G T rs543649664 DUSP18 Synonymous SNV S74S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.061 125496 chr2 209203249 209203249 A G rs61752190 PIKFYVE Synonymous SNV A1543A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.21 125497 chr11 130131565 130131565 G T rs146574096 ZBTB44 Nonsynonymous SNV N68K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 17.43 125498 chr2 211507369 211507369 C A CPS1 Nonsynonymous SNV L1041I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 125499 chr21 43256582 43256582 G A PRDM15 Nonsynonymous SNV S430L 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 26 125500 chr11 134212846 134212846 G A rs750611640 GLB1L2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 125501 chr12 344336 344336 G A rs781142259 SLC6A13 Stop gain R159X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 125502 chr20 62038406 62038406 C T KCNQ2 Nonsynonymous SNV G709D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.87 125503 chr19 53644887 53644887 T A rs746124274 ZNF347 Nonsynonymous SNV E399D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 125504 chr21 35757848 35757848 G - SMIM11A, SMIM11B Stop gain V30* 0.001 0 0 0 1 0 0 0 0 0 0 0 125505 chr22 36745146 36745146 G A rs147122501 MYH9 Nonsynonymous SNV L46F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 25 125506 chr2 219129800 219129800 C T rs753016891 AAMP Nonsynonymous SNV R391H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 125507 chr19 54080165 54080165 C T rs749796126 ZNF331 Synonymous SNV T117T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.043 125508 chr22 31337511 31337511 C T rs771884588 MORC2 Nonsynonymous SNV A245T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 125509 chr20 62737580 62737580 G A rs200146869 NPBWR2 Nonsynonymous SNV P202L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 125510 chr20 76771 76771 C T rs41276376 DEFB125 Nonsynonymous SNV H62Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 125511 chr19 54848171 54848171 C T rs144561009 LILRA4 Nonsynonymous SNV R399H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.636 125512 chr19 54848172 54848172 G A rs148055424 LILRA4 Nonsynonymous SNV R399C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.27 125513 chr19 55047013 55047013 G A rs139549775 KIR3DX1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.508 125514 chr1 36563583 36563583 C T rs142307403 COL8A2 Nonsynonymous SNV G502S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 18.89 125515 chr1 36820852 36820852 C T rs773672680 STK40 Synonymous SNV V180V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.04 125516 chr12 6673080 6673080 C A rs201707356 NOP2 Nonsynonymous SNV Q165H 0 0.008 0 1 0 3 0.003 0 0 0 0 0 25.2 125517 chr21 46876561 46876561 - G rs528991245 COL18A1 Frameshift insertion L376Pfs*101 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 125518 chr12 6965959 6965959 G A rs782359789 USP5 Nonsynonymous SNV D225N 0 0.008 0 1 0 3 0.003 0 0 0 0 0 27.5 125519 chr21 44279805 44279805 T C rs148106113 WDR4 Synonymous SNV P198P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.067 125520 chr1 22915615 22915615 T G EPHA8 Nonsynonymous SNV W411G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.37 125521 chr22 43564814 43564814 G A rs145496614 TTLL12 Synonymous SNV V583V 0.014 0.01 0.007 6 17 4 0.015 2 0 0 0 0 Benign 16.69 125522 chr22 44225002 44225002 G A SULT4A1 Nonsynonymous SNV T227M 0.003 0 0 0 4 0 0 0 0 0 0 0 15.33 125523 chr12 9142273 9142273 G A rs34102416 KLRG1 Synonymous SNV T14T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.494 125524 chr12 9309886 9309886 G A rs35095552 PZP Synonymous SNV T1145T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.456 125525 chr22 40417514 40417514 C T rs149665361 FAM83F Nonsynonymous SNV R334C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 125526 chr22 41654030 41654030 G A rs2229753 RANGAP1 Synonymous SNV F232F 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 8.504 125527 chr22 41832923 41832923 T C rs148432877 TOB2 Nonsynonymous SNV I143V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 125528 chr1 43851867 43851867 G A rs777111533 MED8 Nonsynonymous SNV P86L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 125529 chr11 65408699 65408699 C G rs774339986 SIPA1 Nonsynonymous SNV P103A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 125530 chr19 56720202 56720202 C A rs538159511 ZSCAN5C Nonsynonymous SNV T375K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 125531 chr22 46656246 46656246 T A rs7291444 PKDREJ Nonsynonymous SNV T992S 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 0.005 125532 chr2 233350842 233350842 G C rs755708926 ECEL1 Synonymous SNV G174G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.661 125533 chr19 57158953 57158953 C T rs201587987 SMIM17 Nonsynonymous SNV S66F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.4 125534 chr22 46722426 46722426 C T rs6008698 GTSE1 Synonymous SNV P533P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.95 125535 chr22 46725288 46725288 G A rs16995138 GTSE1 Nonsynonymous SNV A654T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.002 125536 chr19 572667 572667 C T rs765006362 BSG Synonymous SNV F11F 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 9.496 125537 chr22 46731670 46731670 C G rs75417986 TRMU Synonymous SNV A3A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.79 125538 chr22 46731671 46731671 T G rs114302881 TRMU Nonsynonymous SNV L4V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 0.004 125539 chr22 46746261 46746261 C T rs35772382 TRMU Synonymous SNV A70A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 17.92 125540 chr22 46752813 46752813 G A rs34591580 TRMU Nonsynonymous SNV A225T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 11.47 125541 chr22 46759085 46759111 CTGATGGTTCAAATTGAAGTTTCATTA - rs576512903 CELSR1 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 125542 chr22 46759934 46759934 A G rs28372531 CELSR1 Synonymous SNV N2998N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.011 125543 chr22 46759967 46759967 C T rs28495011 CELSR1 Synonymous SNV P2987P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.62 125544 chr1 45272125 45272125 C T rs77270997 TCTEX1D4 Synonymous SNV A72A 0.009 0.01 0.003 4 10 4 0.01 1 0 0 0 0 12.91 125545 chr11 66033397 66033397 C T rs767861682 KLC2 Nonsynonymous SNV R429C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 125546 chr22 44028085 44028085 G A rs35376417 EFCAB6 Nonsynonymous SNV P559L 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 3.817 125547 chr22 46763734 46763734 T C rs76868014 CELSR1 Synonymous SNV A2657A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.04 125548 chr22 46806419 46806419 G A rs61737818 CELSR1 Synonymous SNV V1603V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 11 125549 chr22 50020524 50020524 C T C22orf34 Nonsynonymous SNV E7K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.073 125550 chr19 58197953 58197953 A C rs201814536 ZNF551 Nonsynonymous SNV S76R 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 17.01 125551 chr2 23785138 23785138 C T rs946404086 KLHL29 Synonymous SNV N24N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.28 125552 chr1 47028341 47028341 C T rs376793619 MKNK1 Nonsynonymous SNV E262K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 125553 chr2 238285962 238285962 G A rs142876356 COL6A3 Synonymous SNV L234L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.283 125554 chr19 58945107 58945107 T C rs373410965 ZNF132 Synonymous SNV E568E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.169 125555 chr2 239039543 239039543 G A rs747971476 ESPNL Nonsynonymous SNV G362S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.002 125556 chr21 45163667 45163667 C G rs199941051 PDXK Nonsynonymous SNV Q64E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.392 125557 chr22 19808208 19808208 G A rs149599532 GNB1L Nonsynonymous SNV T56M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 125558 chr21 45387984 45387984 C T rs377558849 AGPAT3 Synonymous SNV F112F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.16 125559 chr1 48267262 48267262 C T TRABD2B Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 125560 chr19 6362486 6362486 C T rs199848903 CLPP Synonymous SNV I100I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 125561 chr1 53580452 53580452 C T rs149844615 SLC1A7 Nonsynonymous SNV D137N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 125562 chr19 7006091 7006091 T C rs752840361 FLJ25758 0 0 0.003 0 0 0 0 1 0 0 0 0 0.802 125563 chr2 242157200 242157200 G T rs144973313 ANO7 Nonsynonymous SNV R691L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.1 125564 chr2 242157201 242157201 C T rs543760948 ANO7 Synonymous SNV R691R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 16.46 125565 chr21 47531966 47531966 G A rs143583433 COL6A2 Synonymous SNV T63T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.377 125566 chr19 7734298 7734298 A G rs148211219 RETN Nonsynonymous SNV N29S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 125567 chr12 30789975 30789975 C T rs61751231 IPO8 Nonsynonymous SNV R674K 0.003 0.01 0.017 2 3 4 0.005 5 0 0 0 0 9.456 125568 chr1 57395125 57395125 C T C8B Synonymous SNV G576G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 125569 chr1 248309237 248309237 C T rs773010835 OR2M5 Nonsynonymous SNV T263I 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 5.081 125570 chr2 109087955 109087955 A G rs770899061 GCC2 Nonsynonymous SNV I724V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 125571 chr1 5924056 5924056 C T rs200407553 NPHP4 Nonsynonymous SNV G833D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.4 125572 chr1 5925201 5925201 C T rs369566680 NPHP4 Synonymous SNV R747R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.91 125573 chr2 1093888 1093888 A G rs201904066 SNTG2 Nonsynonymous SNV T73A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 125574 chr12 40687403 40687403 T C LRRK2 Nonsynonymous SNV F916L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.6 125575 chr12 40702947 40702947 C T rs72546327 LRRK2 Nonsynonymous SNV T1410M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 34 125576 chr1 62582212 62582212 G A rs79226919 PATJ Nonsynonymous SNV S1555N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 125577 chr22 20100641 20100641 G A rs749623047 TRMT2A Nonsynonymous SNV H517Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29 125578 chr2 1161290 1161290 G A rs61744694 SNTG2 Synonymous SNV R156R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.523 125579 chr22 20114512 20114512 G A rs150814421 RANBP1 Synonymous SNV A258A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 9.505 125580 chr2 113333075 113333075 C T rs374115474 POLR1B Synonymous SNV F848F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.49 125581 chr1 63991379 63991379 G A rs143257051 EFCAB7 Nonsynonymous SNV V46I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.03 125582 chr12 43821120 43821120 A G rs75332709 ADAMTS20 Synonymous SNV N1366N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.489 125583 chr12 43826192 43826192 T C rs35875054 ADAMTS20 Nonsynonymous SNV N1004S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 125584 chr2 29221117 29221117 A G TOGARAM2 Nonsynonymous SNV E46G 0.003 0.005 0 2 3 2 0.005 0 0 1 0 0 23 125585 chr12 44130205 44130205 G A rs12309260 PUS7L Synonymous SNV D255D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.359 125586 chr22 21990776 21990776 C T rs138868031 CCDC116 Nonsynonymous SNV S420L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 125587 chr12 48145194 48145194 C A RAPGEF3 Nonsynonymous SNV A122S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.1 125588 chr2 120439282 120439282 C T rs61730482 TMEM177 Stop gain R285X 0.007 0 0.007 0 8 0 0 2 0 0 0 0 43 125589 chr2 31489327 31489327 G A rs148305052 EHD3 Synonymous SNV L455L 0.011 0.008 0.007 6 13 3 0.015 2 0 1 0 0 9.086 125590 chr22 23438398 23438398 C T rs758843916 GNAZ Synonymous SNV V172V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 125591 chr1 67292503 67292503 G A rs143524138 WDR78 Nonsynonymous SNV T780I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 125592 chr12 48920170 48920170 T C rs148118487 OR8S1 Synonymous SNV Y252Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.199 125593 chr1 68905311 68905311 T C rs201009374 RPE65 Nonsynonymous SNV I220V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.16 125594 chr1 70504651 70504651 C T rs138917815 LRRC7 Synonymous SNV Y1049Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.047 125595 chr12 49231849 49231849 A G rs374190607 DDX23 Synonymous SNV S165S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.831 125596 chr22 36124801 36124801 - GAGCACCAGCCTAGGCTGGGCCCTGGCGTGGCACTGAGGACACCAAAGAGGACAGTCTCTGCCCCAAGGATGCTT APOL5 L411_G412insEHQPRLGPGVALRTPKRTVSAPRML 0.001 0 0 0 1 0 0 0 0 0 0 0 125597 chr1 32256401 32256401 G A rs370339429 SPOCD1 Nonsynonymous SNV H632Y 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.9 125598 chr22 36681918 36681918 C T rs148109368 MYH9 Nonsynonymous SNV G1715S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 14.95 125599 chr12 49361733 49361733 C T rs372388862 WNT10B Nonsynonymous SNV R236H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 125600 chr12 49994793 49994793 C T rs201238590 FAM186B Synonymous SNV S210S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.39 125601 chr12 50048076 50048076 T C FMNL3 Nonsynonymous SNV M273V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 125602 chr12 50185718 50185718 G C rs61735515 NCKAP5L Synonymous SNV G1303G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.4 125603 chr12 50186295 50186295 G A rs189425527 NCKAP5L Synonymous SNV A1242A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.11 125604 chr12 50187215 50187215 G A rs80286572 NCKAP5L Nonsynonymous SNV P1087L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.8 125605 chr22 25297856 25297856 G A rs143072147 SGSM1 Synonymous SNV Q828Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.59 125606 chr22 26100169 26100169 G A rs200199764 GRK3 Nonsynonymous SNV G328R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 125607 chr22 37602602 37602602 C T rs4988471 SSTR3 Nonsynonymous SNV R414H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.018 125608 chr22 26247517 26247517 T G MYO18B Nonsynonymous SNV S1287A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.49 125609 chr2 136627912 136627912 G A rs61752701 MCM6 Nonsynonymous SNV R92W 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 35 125610 chr22 26422536 26422536 G A rs114927091 MYO18B Nonsynonymous SNV R2200Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.611 125611 chr12 51319221 51319221 G A rs28372674 METTL7A Nonsynonymous SNV A134T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 14.98 125612 chr2 144714903 144714903 A T rs145583666 GTDC1 Nonsynonymous SNV I201N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 24.2 125613 chr2 44116924 44116924 G A rs148828179 LRPPRC Synonymous SNV Y1359Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.402 125614 chr1 3545150 3545150 G A TPRG1L Nonsynonymous SNV G268S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 26.3 125615 chr2 136567460 136567460 G A rs149425549 LCT Synonymous SNV H819H 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 Uncertain significance 0.278 125616 chr2 136590736 136590736 C T rs140497392 LCT Nonsynonymous SNV R222Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.978 125617 chr1 36807545 36807545 G A rs200223642 STK40 Synonymous SNV Y378Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.382 125618 chr22 39003414 39003414 C T rs73157156 FAM227A Nonsynonymous SNV R369Q 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 0.008 125619 chr22 30890192 30890192 A - SEC14L4 F175Lfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 125620 chr22 40760956 40760956 G T rs119450943 ADSL Nonsynonymous SNV D422Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 33 125621 chr22 40804406 40804406 C T SGSM3 Synonymous SNV A496A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 125622 chr1 38197214 38197214 G T rs141193695 EPHA10 Nonsynonymous SNV A511E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.504 125623 chr1 38463195 38463195 C T rs755857737 FHL3 Nonsynonymous SNV R134Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.8 125624 chr2 158971664 158971664 A C rs7561584 UPP2 Nonsynonymous SNV M78L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.722 125625 chr1 101203765 101203765 A T rs3783615 VCAM1 Nonsynonymous SNV I624L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 125626 chr2 160806183 160806183 G A rs149313808 PLA2R1 Synonymous SNV N1215N 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 8.423 125627 chr2 157427720 157427720 A G GPD2 Synonymous SNV L561L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.345 125628 chr2 64171737 64171739 ACA - rs780134965 VPS54 V421del 0.001 0 0 0 1 0 0 0 0 0 0 0 125629 chr1 9085097 9085097 C T rs751451191 SLC2A7 Nonsynonymous SNV A30T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.002 125630 chr22 50897932 50897932 C T SBF1 Nonsynonymous SNV G1220S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28.2 125631 chr2 69748053 69748053 T A rs200032522 AAK1 Nonsynonymous SNV T375S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.3 125632 chr1 43300763 43300763 C T ERMAP Nonsynonymous SNV P163L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.626 125633 chr2 170063380 170063380 T C rs35413340 LRP2 Nonsynonymous SNV T2284A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.194 125634 chr22 38038413 38038413 T C LOC101927051 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.8 125635 chr22 51011313 51011313 C A CPT1B Nonsynonymous SNV C414F 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 34 125636 chr22 38120154 38120154 G A rs201112075 TRIOBP Nonsynonymous SNV A531T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.156 125637 chr22 51159701 51159701 A G SHANK3 Nonsynonymous SNV Q1208R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 22.5 125638 chr22 38153696 38153696 C T rs183941928 TRIOBP Nonsynonymous SNV R209W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 33 125639 chr1 45110742 45110742 C T rs116503928 RNF220 Synonymous SNV G220G 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 11.72 125640 chr1 45120366 45120366 C T rs139630492 TMEM53 Synonymous SNV E160E 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 12.97 125641 chr1 9780256 9780256 C T rs929800121 PIK3CD Nonsynonymous SNV P447S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 125642 chr12 54403230 54403230 C T HOXC8 Synonymous SNV H54H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 125643 chr22 50588082 50588082 G A rs763186580 MOV10L1 Nonsynonymous SNV G16E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 125644 chr2 73716838 73716838 G C rs745947655 ALMS1 Nonsynonymous SNV K2583N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 125645 chr22 39911310 39911310 T C rs575265789 MIEF1 Nonsynonymous SNV W457R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.327 125646 chr22 50615759 50615759 G A rs762317008 PANX2 Synonymous SNV E206E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.072 125647 chr2 170606026 170606026 A G rs910732860 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV E487E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.39 125648 chr2 179398465 179398465 T C rs72629783 TTN Nonsynonymous SNV K25228E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 125649 chr22 50657225 50657225 G A rs34562250 TUBGCP6 Synonymous SNV H1576H 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.819 125650 chr22 50658442 50658442 G A rs141419187 TUBGCP6 Nonsynonymous SNV P1371S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 1.174 125651 chr2 74692363 74692363 G C rs555329045 MOGS Synonymous SNV G4G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign/Likely benign 13.4 125652 chr22 50682847 50682847 G T rs146878404 TUBGCP6 Synonymous SNV A14A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 10.31 125653 chr20 11904158 11904158 G A rs192061582 BTBD3 Synonymous SNV V320V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.362 125654 chr2 75874017 75874017 G A MRPL19 Synonymous SNV P28P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.298 125655 chr1 11576206 11576206 C T rs17036950 DISP3 Synonymous SNV N579N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.24 125656 chr1 11579819 11579819 C T rs61739687 DISP3 Synonymous SNV P694P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.17 125657 chr1 11584109 11584109 C G rs115032543 DISP3 Nonsynonymous SNV Q825E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.45 125658 chr2 84848452 84848452 C T rs59416718 DNAH6 Synonymous SNV D1310D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.88 125659 chr2 85778130 85778130 G C rs143538795 GGCX Synonymous SNV V545V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.16 125660 chr12 56982086 56982086 G A rs201756438 RBMS2 Synonymous SNV P357P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.759 125661 chr2 86255165 86255165 C T rs34899463 POLR1A Synonymous SNV A1635A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.8 125662 chr2 86258559 86258559 T C rs34373712 POLR1A Nonsynonymous SNV E1491G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.748 125663 chr12 57324207 57324207 C T rs746461247 SDR9C7 Synonymous SNV L121L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 125664 chr2 86357774 86357774 A G rs34866009 PTCD3 Nonsynonymous SNV D384G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 125665 chr2 86360540 86360540 G C rs35016837 PTCD3 Synonymous SNV V508V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.61 125666 chr22 43533135 43533135 C T rs147911596 MCAT Synonymous SNV V227V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.27 125667 chr2 86832394 86832394 T C rs1561253 RNF103 Synonymous SNV A210A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.09 125668 chr2 87016830 87016830 C T rs115370220 CD8A Synonymous SNV A149A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.16 125669 chr1 11839999 11839999 G A rs750866088 C1orf167 Stop gain W931X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 125670 chr2 88402585 88402585 G T rs61731026 SMYD1 Nonsynonymous SNV Q286H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.7 125671 chr2 88485149 88485149 G A rs76063088 THNSL2 Nonsynonymous SNV G386E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.499 125672 chr2 88828847 88828847 C T rs61745382 TEX37 Nonsynonymous SNV P133L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 125673 chr1 54238077 54238077 G A rs116087466 NDC1 Nonsynonymous SNV T589I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 33 125674 chr12 58021631 58021631 G A rs774698373 B4GALNT1 Nonsynonymous SNV A330V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 125675 chr2 96789603 96789603 T - rs11292169 ASTL M428Cfs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 125676 chr2 179981458 179981458 G A rs758652669 SESTD1 Synonymous SNV G528G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.96 125677 chr2 96944387 96944387 G A rs34435094 SNRNP200 Synonymous SNV L1796L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.364 125678 chr1 55181276 55181276 A G rs938955843 MROH7-TTC4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.33 125679 chr1 1386089 1386089 C T rs149262155 ATAD3C Nonsynonymous SNV A9V 0.012 0.01 0.014 7 14 4 0.018 4 0 0 0 0 17.12 125680 chr1 14108935 14108935 T G PRDM2 Nonsynonymous SNV S1348A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.233 125681 chr12 66932878 66932878 T C GRIP1 Nonsynonymous SNV E133G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 125682 chr2 187521119 187521119 G A rs112803582 ITGAV Synonymous SNV A534A 0.009 0.003 0.017 4 11 1 0.01 5 0 0 0 0 Benign 12.12 125683 chr1 145039922 145039922 G C rs55747750 LOC100996724 0 0 0.031 0 0 0 0 9 0 0 0 0 9.866 125684 chr1 145515394 145515394 A G rs61746197 GNRHR2 0 0 0.017 0 0 0 0 5 0 0 0 0 Likely pathogenic 13.57 125685 chr2 113343900 113343900 C T rs751278369 CHCHD5 Synonymous SNV C51C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 125686 chr2 192288626 192288626 T C MYO1B Synonymous SNV N1059N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.972 125687 chr1 1475672 1475672 T A TMEM240 Nonsynonymous SNV M19L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 125688 chr1 150463919 150463919 C A rs140418026 TARS2 Nonsynonymous SNV L188I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.42 125689 chr2 128400565 128400565 C T rs756568588 LIMS2 Nonsynonymous SNV D148N 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 32 125690 chr1 151214985 151214985 A G rs150758573 PIP5K1A Nonsynonymous SNV I488V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.393 125691 chr3 111664191 111664191 A G rs35506232 PHLDB2 Nonsynonymous SNV N782S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.218 125692 chr3 111667901 111667901 G A rs34542209 PHLDB2 Synonymous SNV A827A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.28 125693 chr1 151495950 151495950 G A rs142518497 CGN Nonsynonymous SNV R394Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 125694 chr1 62973680 62973680 T C rs777656293 DOCK7 Nonsynonymous SNV T1437A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 20.3 125695 chr3 111672861 111672861 C T rs34081887 PHLDB2 Nonsynonymous SNV R910W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 35 125696 chr20 2796035 2796035 G T C20orf141 Nonsynonymous SNV G69C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 125697 chr1 151990981 151990981 G A rs1979638 NBPF18P 0 0 0.054 0 0 0 0 16 0 0 8 0 1.472 125698 chr20 3102207 3102207 G A UBOX5 Nonsynonymous SNV P360S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.054 125699 chr2 135076304 135076304 C T rs951757005 MGAT5 Synonymous SNV L189L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.1 125700 chr12 89919759 89919759 G A rs764440820 POC1B-GALNT4 Synonymous SNV A58A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.26 125701 chr1 65117939 65117939 G A rs757030910 CACHD1 Nonsynonymous SNV V200M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 125702 chr1 65303662 65303662 A G rs17392258 JAK1 Synonymous SNV D1031D 0.003 0.01 0 4 3 4 0.01 0 0 0 0 0 Benign 9.491 125703 chr2 100210625 100210625 C A rs140115275 AFF3 Nonsynonymous SNV V525L 0.004 0 0 0 5 0 0 0 0 0 0 0 1.967 125704 chr2 202606507 202606507 G A rs3219160 ALS2 Synonymous SNV Y747Y 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.609 125705 chr1 153112934 153112934 A G rs766172577 SPRR2C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.622 125706 chr2 206870118 206870118 T A rs375781589 INO80D Synonymous SNV S686S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.443 125707 chr2 102851413 102851413 G A IL1RL2 Nonsynonymous SNV V310M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 125708 chr2 136499487 136499487 C T LOC107985946 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 125709 chr2 136872702 136872702 G A rs928470394 CXCR4 Nonsynonymous SNV L270F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 125710 chr1 154987706 154987706 G A rs138516998 ZBTB7B Synonymous SNV P190P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 7.408 125711 chr2 15374831 15374831 C T rs140373332 NBAS Nonsynonymous SNV R1995Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 32 125712 chr1 155039464 155039464 C T rs114301457 EFNA4 Synonymous SNV F124F 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 12.96 125713 chr2 209216159 209216159 A G PIKFYVE Nonsynonymous SNV T1899A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 125714 chr3 121575944 121575944 A C rs374533737 EAF2 Nonsynonymous SNV K12T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 125715 chr2 113479466 113479466 C T rs561885711 NT5DC4 Nonsynonymous SNV A28V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 125716 chr2 21235441 21235441 C T rs376103623 APOB Synonymous SNV S1433S 0.009 0.005 0 0 11 2 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 13.78 125717 chr2 158636868 158636868 C T rs749893446 ACVR1 Synonymous SNV T104T 0.006 0.008 0 0 7 3 0 0 0 0 0 0 14 125718 chr12 109096571 109096571 C T rs541262131 CORO1C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.59 125719 chr2 215847078 215847078 T C rs144220620 ABCA12 Nonsynonymous SNV H1153R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.19 125720 chr20 43566805 43566805 G T rs61736209 PABPC1L Synonymous SNV L588L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.89 125721 chr2 219000437 219000437 C T rs201271219 CXCR2 Nonsynonymous SNV L305F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.898 125722 chr2 161223870 161223870 A T RBMS1 Synonymous SNV P36P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 4.034 125723 chr12 109725671 109725671 G A rs982248955 FOXN4 Nonsynonymous SNV P149L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 125724 chr2 11853918 11853918 G A rs993645656 LPIN1 Nonsynonymous SNV V40I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.98 125725 chr2 1653449 1653449 T C rs758395634 PXDN 0 0 0 3 0 0 0.008 0 0 0 0 0 23.2 125726 chr2 219874163 219874163 A G CFAP65 Nonsynonymous SNV I1491T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 125727 chr20 44538269 44538269 G T rs11569636 PLTP Nonsynonymous SNV S36Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.9 125728 chr1 156955909 156955909 T C rs779228355 ARHGEF11 Nonsynonymous SNV H30R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 125729 chr2 219029317 219029317 A C CXCR1 Synonymous SNV P206P 0.013 0.005 0 1 15 2 0.003 0 0 0 0 0 0.023 125730 chr20 44569515 44569515 C T rs367938445 PCIF1 Nonsynonymous SNV T152M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 125731 chr20 467027 467027 C T CSNK2A1 Nonsynonymous SNV M215I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 125732 chr2 220100214 220100214 A G ANKZF1 Synonymous SNV P360P 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 11.62 125733 chr12 13229049 13229049 C T rs748155337 FAM234B Synonymous SNV N538N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 125734 chr2 220367115 220367115 G A rs150386940 GMPPA Synonymous SNV T147T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 13.74 125735 chr2 169313079 169313079 G T rs750893093 CERS6 Nonsynonymous SNV A41S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 125736 chr2 131103479 131103479 C T rs34942992 IMP4 Synonymous SNV H104H 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 7.183 125737 chr20 47991507 47991507 A G KCNB1 Nonsynonymous SNV M197T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 125738 chr1 92185735 92185735 G A rs11466595 TGFBR3 Synonymous SNV I375I 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 11.16 125739 chr3 128181731 128181731 T G rs770510421 DNAJB8 Nonsynonymous SNV N120H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 125740 chr2 133403126 133403126 G T rs150135352 GPR39 Nonsynonymous SNV A437S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 125741 chr2 223168970 223168970 C A rs371237250 CCDC140 0.001 0 0 0 1 0 0 0 0 0 0 0 9.522 125742 chr2 223386579 223386579 G A rs759479079 SGPP2 Nonsynonymous SNV A30T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.12 125743 chr2 170843253 170843253 T G UBR3 Nonsynonymous SNV S1245A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 27.2 125744 chr2 135887582 135887582 T C RAB3GAP1 Nonsynonymous SNV F331L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 125745 chr2 171572937 171572937 A T rs199988182 SP5 Nonsynonymous SNV T74S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 7.104 125746 chr2 138163259 138163259 C T rs374137865 THSD7B Synonymous SNV L859L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.69 125747 chr2 227968733 227968733 G A rs372387985 COL4A4 Synonymous SNV T257T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.13 125748 chr20 56140815 56140815 C T rs369363807 PCK1 Synonymous SNV I608I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.112 125749 chr2 141274504 141274504 G A rs75124368 LRP1B Synonymous SNV C2701C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 12.12 125750 chr1 161199695 161199695 T G rs150124500 NR1I3 Synonymous SNV L245L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 1.287 125751 chr3 130447325 130447325 A G PIK3R4 Nonsynonymous SNV F597L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.4 125752 chr3 131186967 131186967 A G rs143788120 MRPL3 Nonsynonymous SNV S288P 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 26.8 125753 chr1 16258799 16258799 G A rs141045137 SPEN Nonsynonymous SNV G2022S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 125754 chr20 5923410 5923410 T C rs922304045 TRMT6 Synonymous SNV L60L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.493 125755 chr12 125558451 125558451 G A rs772050404 AACS Nonsynonymous SNV V55I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 125756 chr2 179611639 179611639 C T rs150492317 TTN Nonsynonymous SNV R5163H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.185 125757 chr2 15746339 15746339 T C DDX1 Synonymous SNV V256V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.261 125758 chr20 60899513 60899513 C A rs148177752 LAMA5 Nonsynonymous SNV G1876V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 24.7 125759 chr2 233498431 233498431 T G rs200118999 EFHD1 Nonsynonymous SNV L6R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.2 125760 chr2 160663590 160663590 A G rs145004253 LY75, LY75-CD302 Synonymous SNV S1628S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.271 125761 chr2 180835292 180835292 - A rs762223514 CWC22 0.001 0 0 1 1 0 0.003 0 0 0 0 0 125762 chr12 45725155 45725155 G A rs145969134 ANO6 Synonymous SNV E76E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.843 125763 chr20 18139770 18139770 C T rs375888000 KAT14 Synonymous SNV L181L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.26 125764 chr2 160697271 160697271 G A rs147904044 LY75, LY75-CD302 Nonsynonymous SNV S1159F 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 125765 chr2 234704910 234704910 C T rs200628720 MROH2A Synonymous SNV A401A 0.011 0 0 3 13 0 0.008 0 0 0 0 0 15.04 125766 chr2 160761171 160761171 G C rs200831621 LY75, LY75-CD302 Nonsynonymous SNV P8R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 125767 chr20 61050570 61050570 T C rs113068438 GATA5 Nonsynonymous SNV Q3R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 21.7 125768 chr1 171130591 171130596 ACACAC - rs528146821 FMO6P 0 0 0.037 0 0 0 0 11 0 0 0 0 125769 chr1 171254471 171254471 G A rs150935235 FMO1 Nonsynonymous SNV V467I 0.002 0 0.007 5 2 0 0.013 2 0 0 0 0 0.001 125770 chr20 61472063 61472063 A G COL9A3 Synonymous SNV K678K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.214 125771 chr3 145924473 145924473 T G rs757633149 PLSCR4 Nonsynonymous SNV Q50P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 125772 chr2 168114435 168114435 C T rs201303101 XIRP2 Nonsynonymous SNV S238F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 125773 chr20 19956094 19956094 C A rs188147644 RIN2 Synonymous SNV P475P 0.005 0.005 0.01 4 6 2 0.01 3 0 0 0 0 Benign/Likely benign 12.62 125774 chr20 19956311 19956311 G A rs181298473 RIN2 Nonsynonymous SNV V548M 0.005 0.005 0.01 4 6 2 0.01 3 0 0 0 0 Benign/Likely benign 28.4 125775 chr2 238461014 238461014 G A rs41270745 MLPH Synonymous SNV V450V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 13.22 125776 chr13 21751164 21751164 C T rs117575190 MRPL57 Nonsynonymous SNV R37C 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 31 125777 chr20 20585943 20585943 G A rs375280363 RALGAPA2 Synonymous SNV N638N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.31 125778 chr1 17603340 17603340 C T rs34177351 PADI3 Synonymous SNV H508H 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 17.3 125779 chr1 176563803 176563803 A G PAPPA2 Nonsynonymous SNV S355G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 125780 chr2 1891370 1891370 C T rs191820268 MYT1L Synonymous SNV L844L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 7.985 125781 chr2 238283647 238283647 G A rs113066678 COL6A3 Synonymous SNV D422D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.637 125782 chr1 177247904 177247904 C G rs202063814 BRINP2 Nonsynonymous SNV F406L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 125783 chr2 171939318 171939318 C T TLK1 Synonymous SNV L53L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 125784 chr20 2378671 2378671 C T TGM6 Synonymous SNV V217V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.07 125785 chr20 25199210 25199210 G A rs200748372 ENTPD6 Synonymous SNV S83S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 13.82 125786 chr1 179631401 179631401 T C rs373077224 TDRD5 Nonsynonymous SNV C330R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.945 125787 chr2 176857110 176857110 G T rs139155854 LNPK Nonsynonymous SNV Q102K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.9 125788 chr3 15686027 15686027 G A rs200337373 BTD Nonsynonymous SNV D202N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 125789 chr2 241682385 241682385 G A rs752464745 KIF1A Nonsynonymous SNV R1100C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 125790 chr13 29287147 29287147 G A rs200182693 SLC46A3 Stop gain R244X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 37 125791 chr20 25398748 25398748 C T rs137901350 GINS1 Nonsynonymous SNV R83C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely pathogenic 35 125792 chr1 181767860 181767860 A G rs200469194 CACNA1E Nonsynonymous SNV M2216V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.106 125793 chr2 242079324 242079324 G A rs201096352 PASK Synonymous SNV H192H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 2.937 125794 chr2 202356215 202356215 A G C2CD6 Nonsynonymous SNV Y1617H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 125795 chr2 242176131 242176131 T C rs750756203 HDLBP Nonsynonymous SNV R902G 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 5.414 125796 chr13 39550911 39550911 C T rs779011700 STOML3 Nonsynonymous SNV V26I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 5.664 125797 chr2 25991647 25991647 C T ASXL2 Nonsynonymous SNV V141I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18 125798 chr1 1848479 1848479 C T rs767141727 CALML6 Synonymous SNV A138A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 125799 chr2 205986392 205986392 A G rs369451984 PARD3B Nonsynonymous SNV Q295R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.659 125800 chr1 18703434 18703434 C T rs372579085 IGSF21 Synonymous SNV T414T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 125801 chr21 34907016 34907016 G C GART Synonymous SNV G95G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.288 125802 chr20 33874378 33874380 TTG - rs759373485 FAM83C N734del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 125803 chr1 19166157 19166157 G A rs144954233 TAS1R2 Nonsynonymous SNV P819L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 125804 chr13 46850787 46850787 C A rs755311043 LRRC63 Nonsynonymous SNV S538Y 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 29.1 125805 chr21 38610797 38610797 C T rs142759447 VPS26C Synonymous SNV L57L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 125806 chr13 48651329 48651329 A T rs146226547 MED4 Nonsynonymous SNV D207E 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 Benign 13.39 125807 chr12 53494927 53494927 T G IGFBP6 Nonsynonymous SNV F195V 0 0 0 1 0 0 0.003 0 0 0 0 0 32 125808 chr21 40763698 40763698 A G GET1, WRB-SH3BGR Nonsynonymous SNV K57R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 125809 chr20 3732460 3732460 T C HSPA12B Nonsynonymous SNV C484R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 125810 chr2 27480186 27480186 G T rs148758588 SLC30A3 Nonsynonymous SNV H192N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 24.2 125811 chr13 52646203 52646203 T C rs149641412 NEK5 Nonsynonymous SNV M576V 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 0.02 125812 chr20 43355971 43355971 C T rs74174917 CCN5 Nonsynonymous SNV R177W 0 0.003 0 0 0 1 0 0 0 0 0 0 4.038 125813 chr1 201798650 201798650 T A rs11585549 IPO9-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 8.919 125814 chr2 188211009 188211009 G T CALCRL Nonsynonymous SNV P430T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.1 125815 chr13 84453844 84453844 G A rs377623606 SLITRK1 Nonsynonymous SNV A600V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.24 125816 chr1 202129855 202129855 G A rs530159742 PTPN7 Synonymous SNV A27A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.846 125817 chr3 193019077 193019077 C T rs545966151 ATP13A5 Nonsynonymous SNV V900I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 125818 chr13 96622470 96622470 G A rs143119399 UGGT2 Nonsynonymous SNV R411C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.3 125819 chr13 100635197 100635197 C T rs138007077 ZIC2 Synonymous SNV G293G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 15.1 125820 chr2 219452093 219452093 G A rs541463141 CNOT9 Nonsynonymous SNV A166T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.228 125821 chr2 219561249 219561249 G C STK36 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 125822 chr13 102480274 102480274 - A FGF14 0 0.003 0 0 0 1 0 0 0 0 0 0 125823 chr2 219892514 219892514 C T rs770875734 CFAP65 Nonsynonymous SNV R625Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.897 125824 chr2 198285129 198285129 A G rs776615762 SF3B1 Synonymous SNV Y146Y 0.003 0 0 0 3 0 0 0 0 0 0 0 13.49 125825 chr2 39088713 39088713 T C DHX57 Nonsynonymous SNV Y178C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 125826 chr2 198949061 198949061 A G rs146525330 PLCL1 Nonsynonymous SNV T274A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.55 125827 chr2 40404967 40404967 G A rs925677488 SLC8A1 Nonsynonymous SNV R613C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 125828 chr2 217069067 217069067 C A rs781043805 XRCC5 Nonsynonymous SNV P711Q 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 14.85 125829 chr21 45978372 45978372 G A rs144695928 KRTAP10-3 Nonsynonymous SNV T76M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.65 125830 chr1 205312437 205312437 A G KLHDC8A Nonsynonymous SNV M99T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 125831 chr2 220102657 220102657 C T rs761387456 GLB1L Nonsynonymous SNV R365Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 125832 chr2 44145399 44145399 G C LRPPRC Nonsynonymous SNV P1012R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 125833 chr2 46237584 46237584 A G rs61730655 PRKCE Synonymous SNV T455T 0.006 0.008 0 7 7 3 0.018 0 0 0 0 0 Benign 1.487 125834 chr3 196867060 196867060 T C rs775224987 DLG1 Nonsynonymous SNV I139V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 125835 chr2 46839434 46839434 T C rs139098189 PIGF Nonsynonymous SNV T124A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.526 125836 chr2 48026525 48026525 G A rs41295268 MSH6 Nonsynonymous SNV R338H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 28.1 125837 chr13 110823002 110823002 T A rs199557190 COL4A1 Nonsynonymous SNV M1212L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 2.53 125838 chr1 209803158 209803158 G C rs373815949 LAMB3 Synonymous SNV G352G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.026 125839 chr2 54587561 54587561 C T rs200428258 C2orf73 Synonymous SNV D121D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 16.8 125840 chr2 224463245 224463245 T C rs141648854 SCG2 Synonymous SNV P252P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.194 125841 chr2 61192602 61192602 A C rs752212180 PUS10 Nonsynonymous SNV S211R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 125842 chr20 5904743 5904743 C T rs56291961 CHGB Synonymous SNV D651D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.99 125843 chr2 61413574 61413588 TTTTCAGTTAACAAA - rs757845879 AHSA2P 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 125844 chr13 113975915 113975915 G A rs151133886 LAMP1 Synonymous SNV Q329Q 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 6.499 125845 chr3 36874285 36874285 G C rs148362947 TRANK1 Synonymous SNV G2219G 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 0.001 125846 chr3 37476484 37476484 G T rs200543407 C3orf35 Nonsynonymous SNV G126C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 125847 chr20 60773786 60773786 G - rs536250039 MTG2 G191Afs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 125848 chr2 64778661 64778661 A G rs184801562 AFTPH Nonsynonymous SNV N18S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 125849 chr2 231867483 231867483 G A rs113102248 SPATA3 Synonymous SNV R186R 0.008 0.026 0.014 5 9 10 0.013 4 0 0 0 0 11.95 125850 chr2 225639636 225639636 C T rs765539185 DOCK10 Nonsynonymous SNV R1994Q 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 33 125851 chr2 21225500 21225500 A G rs61743502 APOB Nonsynonymous SNV V4265A 0.006 0.021 0.003 0 7 8 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.352 125852 chr2 228109668 228109668 G C rs780287240 COL4A3 Nonsynonymous SNV G94A 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 26.2 125853 chr2 233897503 233897503 G A rs2233385 NEU2 Nonsynonymous SNV R41Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 25.8 125854 chr2 217234905 217234905 G A rs769269823 MARCHF4 Nonsynonymous SNV P27S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 125855 chr3 42567473 42567473 G A rs17074546 VIPR1 Nonsynonymous SNV R5Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 9.378 125856 chr2 71337204 71337204 G A rs138436961 MCEE Nonsynonymous SNV R143C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 125857 chr3 42700837 42700837 G A rs144323491 ZBTB47 Synonymous SNV E330E 0.003 0 0.003 0 4 0 0 1 1 0 0 0 0.045 125858 chr2 73678539 73678539 C T rs201874722 ALMS1 Nonsynonymous SNV R1628W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 125859 chr1 22447981 22447981 C T WNT4 Synonymous SNV E134E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 125860 chr2 7213490 7213490 A C RNF144A Synonymous SNV G315G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.755 125861 chr3 43388940 43388940 A G SNRK Nonsynonymous SNV S191G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 125862 chr2 219679475 219679475 G T rs72551323 CYP27A1 Nonsynonymous SNV A491S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.01 125863 chr2 74087179 74087179 A G rs200844078 STAMBP Synonymous SNV E238E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.87 125864 chr2 238289779 238289779 C T rs752057646 COL6A3 Nonsynonymous SNV G152D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 125865 chr2 74491387 74491387 C T rs994789662 SLC4A5 Nonsynonymous SNV R201Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.6 125866 chr14 21971694 21971694 C G rs11540964 METTL3 Synonymous SNV G115G 0 0.01 0.003 3 0 4 0.008 1 0 0 0 0 10.68 125867 chr1 225609896 225609896 G A rs756952587 LBR Synonymous SNV R83R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 125868 chr12 102874115 102874115 G C rs77017132 IGF1 Nonsynonymous SNV C15W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24 125869 chr20 860453 860453 G A rs62641667 ANGPT4 Synonymous SNV T330T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.5 125870 chr20 861853 861853 G A rs6086328 ANGPT4 Synonymous SNV V304V 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 8.245 125871 chr20 865896 865896 C T rs62641665 ANGPT4 Synonymous SNV K220K 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 13.57 125872 chr1 2283266 2283266 T C rs2840526 LOC100129534 0 0 0.014 0 0 0 0 4 0 0 1 0 1.382 125873 chr22 28497214 28497214 T C TTC28 Nonsynonymous SNV H1121R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 125874 chr1 228461490 228461491 AG - OBSCN R1721Tfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 125875 chr1 228464651 228464651 C T rs376500523 OBSCN Nonsynonymous SNV R2170C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 125876 chr2 238280514 238280514 C T rs114791158 COL6A3 Synonymous SNV S775S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.289 125877 chr2 88825941 88825941 A G rs145677083 TEX37 Nonsynonymous SNV I16V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.559 125878 chr2 9543426 9543426 G A rs146689258 ASAP2 Synonymous SNV P952P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 11.3 125879 chr2 241569874 241569874 A G rs61734452 GPR35 Nonsynonymous SNV N169D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 0.003 125880 chr2 241570108 241570108 G A GPR35 Nonsynonymous SNV A247T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 125881 chr2 9618496 9618496 A C IAH1 Nonsynonymous SNV K94Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 125882 chr22 30780351 30780351 C T rs140327189 RNF215 Nonsynonymous SNV G241R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.7 125883 chr2 96963419 96963419 T C rs142729495 SNRNP200 Nonsynonymous SNV M387V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.922 125884 chr2 99998626 99998626 A G rs745533484 EIF5B Nonsynonymous SNV D689G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 125885 chr2 242606080 242606080 G A rs35613684 ATG4B Nonsynonymous SNV V187I 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 3.285 125886 chr3 100364914 100364914 G A rs61742836 ADGRG7 Nonsynonymous SNV D63N 0.003 0 0.01 0 3 0 0 3 0 0 0 0 0.15 125887 chr3 49153902 49153902 G A rs768196072 USP19 Nonsynonymous SNV T306M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 125888 chr1 231487139 231487139 C T rs150507607 SPRTN Synonymous SNV Y137Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 6.648 125889 chr2 227661248 227661248 G A rs149708433 IRS1 Nonsynonymous SNV S736L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 125890 chr22 36690330 36690330 G C MYH9 Synonymous SNV L1215L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 125891 chr3 50222879 50222879 G A rs147680835 SEMA3F Nonsynonymous SNV R388H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 125892 chr3 50355893 50355893 T C rs138645541 HYAL2 Synonymous SNV Q363Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.831 125893 chr3 111603583 111603583 A G rs372424701 PHLDB2 Nonsynonymous SNV Q220R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.674 125894 chr1 235973301 235973301 C T rs773113090 LYST Nonsynonymous SNV V273I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 125895 chr3 111821806 111821806 C T rs199685620 C3orf52 Synonymous SNV T130T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 125896 chr2 27157542 27157542 C T rs151073506 DPYSL5 Nonsynonymous SNV T296M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23.7 125897 chr14 50100578 50100578 C T rs756180185 DNAAF2 Synonymous SNV E430E 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.62 125898 chr21 39493415 39493415 G T DSCR4 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.169 125899 chr22 38477226 38477226 C T rs147198655 SLC16A8 Synonymous SNV L273L 0.013 0.008 0 5 15 3 0.013 0 0 0 0 0 15.32 125900 chr3 53126560 53126560 C T rs201230044 RFT1 Nonsynonymous SNV S428N 0.001 0 0 0 1 0 0 0 0 0 0 0 22 125901 chr3 53260820 53260820 G A rs782746915 TKT Nonsynonymous SNV R550C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 125902 chr22 41752714 41752714 C A rs774120756 ZC3H7B Synonymous SNV I861I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 125903 chr3 118624560 118624560 C T rs140836568 IGSF11 Nonsynonymous SNV V196I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 125904 chr1 24416105 24416105 G A rs773656547 MYOM3 Stop gain R513X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 125905 chr3 62153764 62153764 C T rs144721591 PTPRG Synonymous SNV S320S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 14.09 125906 chr2 238483751 238483751 T C rs34311889 RAB17 Nonsynonymous SNV S184G 0.01 0.005 0.017 3 12 2 0.008 5 0 0 0 0 0.079 125907 chr2 3623238 3623238 C T rs746686516 RPS7 Synonymous SNV G13G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 21.7 125908 chr2 37480347 37480347 A T rs141147191 PRKD3 Nonsynonymous SNV N882K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 125909 chr3 121415642 121415642 A G rs139646586 GOLGB1 Nonsynonymous SNV I1163T 0.005 0.029 0 5 6 11 0.013 0 0 1 0 0 5.813 125910 chr22 44692648 44692648 T C rs772392017 SHISAL1 Nonsynonymous SNV H62R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 125911 chr2 39406451 39406451 C T rs148350148 CDKL4 Synonymous SNV K268K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 125912 chr2 241873880 241873880 C T rs772916771 CROCC2 Synonymous SNV S593S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.663 125913 chr21 46293522 46293522 C T rs370210322 PTTG1IP Nonsynonymous SNV G4R 0 0.005 0 0 0 2 0 0 0 0 0 0 5.282 125914 chr2 242007270 242007270 C T SNED1 Synonymous SNV T1034T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 125915 chr14 65208640 65208640 C A rs762032973 PLEKHG3 Nonsynonymous SNV P802H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.4 125916 chr14 65239615 65239615 G A rs200080131 SPTB Nonsynonymous SNV R1746W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 125917 chr1 248185458 248185458 T C rs754274596 OR2L5 Nonsynonymous SNV L70P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 125918 chr21 47404279 47404279 C T rs138646508 COL6A1 Synonymous SNV G108G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 10.34 125919 chr2 47222299 47222299 C T rs151317740 TTC7A Synonymous SNV I342I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 21 125920 chr22 50598132 50598132 G A rs139398528 MOV10L1 Nonsynonymous SNV R208H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 125921 chr14 68008550 68008550 G A rs760463605 PLEKHH1 0.004 0.008 0 0 5 3 0 0 0 0 0 0 25.9 125922 chr22 50682728 50682728 G C rs139974572 TUBGCP6 Nonsynonymous SNV T54S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 125923 chr1 2572907 2572907 G A rs928056503 TTC34 Nonsynonymous SNV A1047V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.218 125924 chr2 27278749 27278749 A C rs757182855 AGBL5 Nonsynonymous SNV N370H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 125925 chr4 100232773 100232773 C T rs201408613 ADH1B Nonsynonymous SNV S290N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 125926 chr22 51011373 51011373 T C rs141820211 CPT1B Nonsynonymous SNV Y394C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 125927 chr22 51065322 51065322 A G rs113990230 ARSA Synonymous SNV H208H 0.012 0.013 0.007 0 14 5 0 2 0 0 0 0 Benign/Likely benign 0.043 125928 chr1 26597588 26597588 C T rs747760374 CEP85 Nonsynonymous SNV S10L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 125929 chr3 129247936 129247936 C T rs79765751 RHO Synonymous SNV G120G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 10.17 125930 chr2 10104375 10104375 G T rs750460014 GRHL1 Nonsynonymous SNV M305I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 125931 chr22 19754286 19754294 GCCGCCGCG - rs777514486 TBX1 A474_A476del 0 0.003 0 0 0 1 0 0 0 0 0 0 125932 chr3 12983167 12983167 G A rs965878414 IQSEC1 Synonymous SNV T74T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 125933 chr2 6991812 6991812 T C rs889492848 CMPK2 Nonsynonymous SNV Y332C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 125934 chr2 31422348 31422348 T C rs146631573 CAPN14 Synonymous SNV T259T 0.007 0.013 0.007 2 8 5 0.005 2 0 0 0 0 1.95 125935 chr1 27875882 27875882 C T rs138452825 AHDC1 Synonymous SNV L915L 0.004 0.003 0.014 3 5 1 0.008 4 0 0 0 0 Benign 11.68 125936 chr2 105858819 105858819 G C rs56355385 GPR45 Synonymous SNV T168T 0.002 0.01 0.003 1 2 4 0.003 1 0 1 0 0 0.009 125937 chr3 13413494 13413494 C G rs74681769 NUP210 Synonymous SNV P542P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.088 125938 chr2 37475493 37475493 A G rs775155484 NDUFAF7 X344W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 125939 chr2 109397796 109397796 G A rs376940698 RANBP2 Nonsynonymous SNV G2891S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.565 125940 chr4 110791191 110791191 G A rs201714421 LRIT3 Nonsynonymous SNV S429N 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 0.241 125941 chr1 31897587 31897587 G A rs112561697 SERINC2 Nonsynonymous SNV D91N 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign 21.8 125942 chr3 137885974 137885974 A G rs138348480 DBR1 Synonymous SNV Y221Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.422 125943 chr2 39187040 39187040 C G rs561956321 ARHGEF33 Nonsynonymous SNV Q532E 0.002 0.013 0 0 2 5 0 0 0 0 0 0 22.6 125944 chr2 39405801 39405801 T A rs535696745 CDKL4 Nonsynonymous SNV N343Y 0.002 0.013 0 0 2 5 0 0 0 0 0 0 5.612 125945 chr22 23523593 23523593 C G BCR Nonsynonymous SNV A149G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 125946 chr14 88945522 88945522 G A rs765628681 PTPN21 Synonymous SNV L751L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.247 125947 chr3 137822367 137822367 C A DZIP1L Nonsynonymous SNV M149I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 125948 chr22 24837103 24837103 C T rs17650937 ADORA2A Synonymous SNV F295F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.12 125949 chr3 140282880 140282880 C T rs200345034 CLSTN2 Nonsynonymous SNV R854W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 125950 chr1 34667738 34667738 G A C1orf94 Nonsynonymous SNV V442I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 125951 chr2 84896593 84896593 A G rs757705604 DNAH6 Nonsynonymous SNV K2089E 0.005 0 0 0 6 0 0 0 0 0 0 0 15.68 125952 chr3 140695202 140695202 T C rs142389196 SLC25A36 Synonymous SNV Y281Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 125953 chr14 93412832 93412832 T C rs750294098 ITPK1 Nonsynonymous SNV K130E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.16 125954 chr14 93717946 93717946 A T BTBD7 Nonsynonymous SNV M251K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 125955 chr4 122103887 122103887 G A rs145016167 TNIP3 Nonsynonymous SNV P45S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.316 125956 chr14 94120108 94120108 C T rs148490393 UNC79 Nonsynonymous SNV A1897V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.7 125957 chr4 123151095 123151095 A G rs764066826 KIAA1109 Nonsynonymous SNV I1018V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.995 125958 chr4 123171590 123171590 T C rs145212973 KIAA1109 Synonymous SNV G1928G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.97 125959 chr2 122493304 122493304 G A rs772012671 NIFK Nonsynonymous SNV T43I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.703 125960 chr22 29917045 29917045 C T THOC5 Nonsynonymous SNV G407R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 125961 chr2 12880881 12880881 C T rs116068311 TRIB2 Synonymous SNV D331D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 125962 chr3 15297760 15297760 T G rs34419005 SH3BP5 Nonsynonymous SNV N244H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 125963 chr4 128689999 128689999 C T rs1018373016 SLC25A31 Synonymous SNV P242P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.229 125964 chr1 40033160 40033160 G A rs180770841 SNORA55 0 0 0.01 0 0 0 0 3 0 0 0 0 12.12 125965 chr2 96947633 96947633 C T rs200426430 SNRNP200 Nonsynonymous SNV R1648Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 29.7 125966 chr4 13600672 13600672 A G rs771157644 BOD1L1 Nonsynonymous SNV S2618P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.43 125967 chr22 31492816 31492816 C G rs200403667 SMTN Nonsynonymous SNV H709Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.43 125968 chr1 41483951 41483951 G C rs11209361 SLFNL1-AS1 0 0 0.01 0 0 0 0 3 0 0 1 0 0.628 125969 chr3 100605150 100605150 T C ABI3BP Nonsynonymous SNV Y167C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.5 125970 chr3 153840015 153840015 T C rs749112695 ARHGEF26 Synonymous SNV H78H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 125971 chr2 99976718 99976718 C T rs374733590 EIF5B Nonsynonymous SNV L19F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 125972 chr1 43352378 43352378 T G LOC339539 0 0 0.003 0 0 0 0 1 0 0 0 0 9.27 125973 chr3 100413711 100413711 A C rs765592102 ADGRG7 Synonymous SNV R459R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.015 125974 chr3 100532527 100532527 T G ABI3BP Synonymous SNV L980L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 125975 chr3 100569567 100569567 G A rs377450718 ABI3BP Nonsynonymous SNV R391C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 125976 chr2 71160120 71160120 G A VAX2 Nonsynonymous SNV G220D 0.002 0 0 0 2 0 0 0 1 0 0 0 25.8 125977 chr1 44169353 44169353 C T rs150467354 KDM4A Synonymous SNV D969D 0 0 0.007 0 0 0 0 2 0 0 0 0 11.33 125978 chr22 35481571 35481571 C T rs749060872 ISX Nonsynonymous SNV P208L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.688 125979 chr3 10370705 10370705 G A ATP2B2 Synonymous SNV I1130I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 125980 chr1 45291981 45291981 C T rs11573591 PTCH2 Nonsynonymous SNV V1019M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 125981 chr3 105421156 105421156 C T rs149293415 CBLB Nonsynonymous SNV V532M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 125982 chr3 164908529 164908529 C T rs76663597 SLITRK3 Synonymous SNV P30P 0.013 0.003 0.003 2 15 1 0.005 1 0 0 0 0 5.892 125983 chr3 165548421 165548421 T C BCHE Nonsynonymous SNV N134S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.451 125984 chr3 108179159 108179159 T A rs115619814 MYH15 Synonymous SNV A660A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.837 125985 chr2 80529762 80529762 C T rs147965918 LRRTM1 Nonsynonymous SNV A395T 0.004 0 0 0 5 0 0 0 1 0 0 0 0.593 125986 chr2 84940240 84940240 G T rs368254114 DNAH6 Nonsynonymous SNV A3134S 0.004 0 0 0 5 0 0 0 1 0 0 0 14.48 125987 chr22 37482353 37482353 C T rs188371820 TMPRSS6 Nonsynonymous SNV V315M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 125988 chr3 169540072 169540072 C A rs191008648 LRRIQ4 Synonymous SNV R121R 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 18.23 125989 chr3 169953102 169953102 C T rs140807328 PRKCI Synonymous SNV N62N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 125990 chr4 155606 155606 T C rs569429704 ZNF718 Synonymous SNV N377N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.594 125991 chr3 170875259 170875259 C T rs759900929 TNIK Nonsynonymous SNV R404Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 125992 chr22 38039690 38039690 C T rs1049593373 SH3BP1 Synonymous SNV G171G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 125993 chr3 183996044 183996044 A G rs55920130 ECE2, EEF1AKMT4-ECE2 Synonymous SNV P202P 0.001 0 0.014 0 1 0 0 4 0 0 0 0 9.338 125994 chr2 97492648 97492648 T C rs144405040 CNNM3 Nonsynonymous SNV V435A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.649 125995 chr3 182812352 182812352 G A rs200673204 MCCC1 Nonsynonymous SNV A44V 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Uncertain significance 20.3 125996 chr3 182812353 182812353 C A rs201216516 MCCC1 Nonsynonymous SNV S13I 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Uncertain significance 5.501 125997 chr2 98409166 98409166 G A rs773147161 TMEM131 Nonsynonymous SNV A1276V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.95 125998 chr22 38484814 38484814 C T rs759166798 BAIAP2L2 Synonymous SNV E353E 0.006 0.01 0.003 9 7 4 0.023 1 0 0 0 0 14.62 125999 chr2 162903931 162903931 A T rs965477958 DPP4 Nonsynonymous SNV S59T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.011 126000 chr3 100553600 100553600 G A rs529840844 ABI3BP Stop gain R623X 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 126001 chr2 167094638 167094638 T C rs141268327 SCN9A Nonsynonymous SNV N1256S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 126002 chr22 42191533 42191533 G C MEI1 Nonsynonymous SNV G1218A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.189 126003 chr15 37184546 37184546 T C rs144548752 MEIS2 Nonsynonymous SNV H421R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.032 126004 chr15 38229158 38229158 A G TMCO5A Nonsynonymous SNV E84G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 126005 chr22 42998951 42998951 T C POLDIP3 Nonsynonymous SNV Q92R 0.006 0.008 0 6 7 3 0.015 0 0 0 0 0 25.8 126006 chr1 59042109 59042109 G T rs762401640 TACSTD2 Synonymous SNV G240G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 126007 chr3 121412930 121412930 T G GOLGB1 Nonsynonymous SNV Q2067P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.4 126008 chr3 108112954 108112954 C T rs56118396 MYH15 Nonsynonymous SNV R1748Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 2.262 126009 chr1 62672416 62672416 C T rs768724581 L1TD1 Nonsynonymous SNV P39L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 126010 chr2 170667795 170667803 ATGATGAAC - rs568710324 SSB H373_E375del 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 126011 chr15 42139973 42139973 A G JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV H754R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.033 126012 chr2 179404587 179404587 T G rs745468223 TTN Synonymous SNV I23670I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.6 126013 chr22 46807604 46807604 G A rs763427219 CELSR1 Nonsynonymous SNV A1555V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.1 126014 chr2 179414177 179414177 G A rs72648247 TTN Nonsynonymous SNV P21661S 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 17.38 126015 chr3 113377220 113377220 C T USF3 Nonsynonymous SNV M1103I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 126016 chr3 127337983 127337983 G A rs199907942 MCM2 Synonymous SNV T709T 0.003 0 0 0 4 0 0 0 0 0 0 0 2.803 126017 chr3 20189472 20189472 C A rs148960024 KAT2B Nonsynonymous SNV P713T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 28.3 126018 chr3 21606111 21606111 C T rs147921825 ZNF385D Synonymous SNV K77K 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Benign 12.52 126019 chr4 3076657 3076657 - CAGCAGCAGCAGCAGCAA HTT Q38_P39insQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 126020 chr1 84356065 84356065 C T rs140612684 TTLL7 Nonsynonymous SNV V743I 0 0 0.01 0 0 0 0 3 0 0 0 0 24.4 126021 chr14 23842570 23842570 C T rs139090206 IL25 Synonymous SNV P81P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.77 126022 chr1 85020854 85020854 C T rs756813307 CTBS Stop gain W329X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 126023 chr14 23866227 23866227 G A rs767124357 MYH6 Nonsynonymous SNV R705C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 126024 chr15 49867307 49867307 C A rs371378414 FAM227B 0 0.01 0.007 0 0 4 0 2 0 1 0 0 23.7 126025 chr15 50264848 50264848 C T rs115015219 ATP8B4 Nonsynonymous SNV D392N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 34 126026 chr1 86591772 86591772 T C rs779957335 COL24A1 Nonsynonymous SNV I83V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 126027 chr3 130313176 130313176 C T rs369804734 COL6A6 Stop gain R1508X 0.009 0.003 0 4 11 1 0.01 0 0 0 0 0 40 126028 chr15 52527870 52527870 T G rs780668682 MYO5C Nonsynonymous SNV K987Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.93 126029 chr1 86909685 86909685 A G rs72720136 CLCA2 Synonymous SNV G568G 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 10.57 126030 chr14 24738856 24738856 C T rs199629422 RABGGTA Nonsynonymous SNV V158M 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 32 126031 chr2 183730831 183730831 G A rs144510376 FRZB Synonymous SNV P150P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.52 126032 chr3 123411622 123411622 G A rs147735490 MYLK Synonymous SNV D999D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.338 126033 chr3 32483474 32483474 G A rs117098616 CMTM7 Nonsynonymous SNV R101H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 126034 chr3 38797310 38797310 G A rs142235256 SCN10A Nonsynonymous SNV P477L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.292 126035 chr4 41951379 41951379 G A rs148218820 TMEM33 Synonymous SNV S197S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.48 126036 chr3 13421170 13421170 G A rs149566955 NUP210 Nonsynonymous SNV P290L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.709 126037 chr3 13421182 13421182 T C rs746638562 NUP210 Nonsynonymous SNV Q286R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 126038 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAAA 0.007 0 0 2 8 0 0.005 0 0 0 0 0 126039 chr4 48027165 48027165 C A rs144347229 NIPAL1 Nonsynonymous SNV P43T 0.003 0 0 0 4 0 0 0 0 0 0 0 9.195 126040 chr1 9323747 9323747 G A rs369125646 H6PD Nonsynonymous SNV V410I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 126041 chr3 38766798 38766798 T - rs760664319 SCN10A Q934Rfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 126042 chr2 109964267 109964267 C T rs372876669 SH3RF3 Synonymous SNV H237H 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 8.238 126043 chr2 198495767 198495767 A G rs147133320 RFTN2 Nonsynonymous SNV I299T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.3 126044 chr2 198949074 198949074 C T rs61752178 PLCL1 Nonsynonymous SNV A278V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.78 126045 chr3 139097902 139097902 A G rs74860267 COPB2 Synonymous SNV I114I 0.008 0.003 0 0 9 1 0 0 0 0 0 0 4.638 126046 chr3 39142366 39142366 G A rs778785537 GORASP1 Synonymous SNV S51S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.531 126047 chr3 42916621 42916621 - CACTT CYP8B1 Frameshift insertion G230Kfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 126048 chr2 201802661 201802661 G C rs202114113 ORC2 Nonsynonymous SNV T161R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 126049 chr2 20234122 20234122 C A rs145912850 LAPTM4A Nonsynonymous SNV V195L 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 22.5 126050 chr3 4357994 4357994 C T SETMAR Synonymous SNV N85N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.51 126051 chr2 121708928 121708928 G T GLI2 Nonsynonymous SNV V122L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 126052 chr15 72699027 72699027 T A rs141474596 TMEM202 Nonsynonymous SNV I141N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.08 126053 chr2 128381815 128381815 C T rs749614831 MYO7B Nonsynonymous SNV R1297W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 126054 chr3 154890381 154890381 G A rs61760409 MME Synonymous SNV V711V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 13.24 126055 chr2 20870534 20870534 G A rs535757784 GDF7 Synonymous SNV L234L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.449 126056 chr3 46718370 46718370 G A rs140829916 ALS2CL Nonsynonymous SNV R634C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 32 126057 chr3 46755975 46755975 A G rs147316998 PRSS50 Nonsynonymous SNV S163P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 24.4 126058 chr3 49020364 49020364 C T rs749205332 ARIH2 Nonsynonymous SNV S463L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.11 126059 chr3 160146714 160146714 A G rs751113807 SMC4 Nonsynonymous SNV I927V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 17.88 126060 chr20 19970853 19970853 G A rs201964534 RIN2 Nonsynonymous SNV V656I 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.24 126061 chr3 160395161 160395161 G A rs146866643 ARL14 Synonymous SNV P9P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.03 126062 chr20 20527372 20527372 C A rs374794807 RALGAPA2 Nonsynonymous SNV R1087S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 126063 chr3 169820627 169820627 C A rs747656277 PHC3 Nonsynonymous SNV G843V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 126064 chr3 170884938 170884938 G A rs769246900 TNIK Nonsynonymous SNV R299C 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 29.7 126065 chr3 142212065 142212065 A G rs150339560 ATR Nonsynonymous SNV M1932T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 9.372 126066 chr3 170198903 170198903 C G rs142416793 SLC7A14 Nonsynonymous SNV V390L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 22.7 126067 chr3 51897238 51897238 G A rs369854806 IQCF2 Nonsynonymous SNV R116H 0.002 0 0 0 2 0 0 0 0 0 0 0 18.06 126068 chr3 49050423 49050423 C A rs371282038 WDR6 Nonsynonymous SNV L460M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 126069 chr2 149221327 149221327 G A rs34995577 MBD5 Nonsynonymous SNV G79E 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 126070 chr3 49153057 49153057 T G USP19 Nonsynonymous SNV M454L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 126071 chr20 259928 259928 C G rs151192874 C20orf96 Nonsynonymous SNV S116T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.067 126072 chr15 79603666 79603666 C T rs140908103 TMED3 Synonymous SNV C25C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.22 126073 chr20 2774984 2774984 C T rs138143188 CPXM1 Nonsynonymous SNV R612Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 126074 chr2 219299353 219299353 G A rs774645181 VIL1 Synonymous SNV A535A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.4 126075 chr3 52440267 52440267 A G rs774730309 BAP1 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 26.4 126076 chr15 81591899 81591899 G C rs539995354 IL16 Synonymous SNV L43L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.293 126077 chr2 219887947 219887947 G T rs146417352 CFAP65 Synonymous SNV I934I 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 10.44 126078 chr3 179426675 179426675 G A rs140845211 USP13 Synonymous SNV A245A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.831 126079 chr2 220100476 220100476 G A rs201069890 ANKZF1 Nonsynonymous SNV R407Q 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 Benign 29.3 126080 chr3 53851921 53851921 C T CHDH Synonymous SNV L556L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 126081 chr3 183543200 183543200 C T rs1017068925 MAP6D1 Nonsynonymous SNV A46T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 126082 chr3 53894212 53894212 C A IL17RB Synonymous SNV A301A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.976 126083 chr3 51743325 51743325 C A GRM2 Stop gain S109X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 126084 chr3 15292727 15292727 T G CAPN7 Nonsynonymous SNV F801C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 126085 chr3 185245344 185245344 C T LIPH Nonsynonymous SNV G186R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 126086 chr3 185970970 185970970 A G rs61752078 DGKG Synonymous SNV D479D 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 11.2 126087 chr15 87097595 87097595 C T rs765982956 AGBL1 Nonsynonymous SNV L941F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.2 126088 chr3 52584478 52584478 G A rs142726131 PBRM1 Nonsynonymous SNV A1564V 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 25.2 126089 chr3 16242193 16242193 C T rs143956414 GALNT15 Synonymous SNV N258N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 126090 chr2 225244877 225244877 C T FAM124B Nonsynonymous SNV G261S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.91 126091 chr20 3672240 3672240 G A rs111969446 SIGLEC1 Synonymous SNV R1446R 0.011 0.01 0.01 5 13 4 0.013 3 0 0 0 0 7.474 126092 chr3 71015186 71015186 T C FOXP1 Nonsynonymous SNV I482V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.7 126093 chr2 226447750 226447750 G C rs1029941891 NYAP2 Nonsynonymous SNV E539D 0.001 0 0 0 1 0 0 0 0 0 0 0 22 126094 chr2 227771589 227771589 C G rs144396791 RHBDD1 Nonsynonymous SNV A216G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.708 126095 chr3 190936738 190936738 A G OSTN Nonsynonymous SNV K102R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 126096 chr3 193160221 193160221 C T rs144409808 ATP13A4 Synonymous SNV T759T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.85 126097 chr3 9743583 9743583 G A rs190345299 MTMR14 Nonsynonymous SNV G515S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 126098 chr4 95585202 95585202 A G rs76352571 PDLIM5 Nonsynonymous SNV H267R 0.008 0.003 0 0 9 1 0 0 0 0 0 0 27.4 126099 chr4 96127798 96127798 G T rs141976218 UNC5C Nonsynonymous SNV A628E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.35 126100 chr4 96127799 96127799 C T rs146123204 UNC5C Nonsynonymous SNV A628T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.24 126101 chr20 44003875 44003875 C T rs2231620 TP53TG5 Nonsynonymous SNV R191H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 126102 chr3 62357847 62357847 G T rs550673710 FEZF2 Nonsynonymous SNV P233T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.131 126103 chr3 62467521 62467521 T A rs77008736 CADPS Nonsynonymous SNV N1017I 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 24.2 126104 chr15 90346690 90346690 A G ANPEP Nonsynonymous SNV F496L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.6 126105 chr3 179537713 179537713 G T rs28682295 PEX5L Synonymous SNV R100R 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 13.25 126106 chr4 9922187 9922187 G A rs112404957 SLC2A9 Nonsynonymous SNV T275M 0.006 0.008 0.014 2 7 3 0.005 4 0 0 0 0 Likely benign 13.47 126107 chr3 69047233 69047233 T C EOGT Nonsynonymous SNV I254V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 126108 chr14 94044293 94044293 C T rs781756182 UNC79 Nonsynonymous SNV R773C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 126109 chr5 10761153 10761153 C A rs201354802 DAP Stop gain E10X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 126110 chr5 1085534 1085534 C A rs143024441 SLC12A7 Nonsynonymous SNV A244S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.303 126111 chr3 183777328 183777328 C T rs138181384 HTR3C Synonymous SNV S275S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 15.16 126112 chr5 112173256 112173256 C T rs765309567 APC Synonymous SNV I637I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.84 126113 chr14 95035841 95035841 G A rs138128837 SERPINA4 Nonsynonymous SNV R435Q 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 9.61 126114 chr20 49218794 49218794 C T rs779521133 RIPOR3 Nonsynonymous SNV G492S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.02 126115 chr2 179650794 179650794 G A rs374570732 TTN Synonymous SNV P671P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 2.099 126116 chr20 51872058 51872058 G A rs765569706 TSHZ2 Synonymous SNV P684P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.287 126117 chr3 186383947 186383947 C T rs115767711 HRG Nonsynonymous SNV R43W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 126118 chr3 35771025 35771025 A C ARPP21 Nonsynonymous SNV T432P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 126119 chr3 36484928 36484928 C A rs758154742 STAC Nonsynonymous SNV Q62K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.39 126120 chr2 24046279 24046279 G A rs375673963 ATAD2B Synonymous SNV I660I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 126121 chr20 58491623 58491623 T C rs766534374 SYCP2 Nonsynonymous SNV K144R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.23 126122 chr3 3886784 3886784 C T rs113168029 LRRN1 Synonymous SNV N153N 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 10.02 126123 chr20 60882682 60882682 G A rs150110881 ADRM1 Synonymous SNV P179P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.814 126124 chr20 60885242 60885242 C T rs139502000 LAMA5 Nonsynonymous SNV E3576K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.69 126125 chr3 39307237 39307237 G A rs375338951 CX3CR1 Nonsynonymous SNV T255M 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 25.6 126126 chr16 727942 727942 T G RHBDL1 Nonsynonymous SNV C263G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 15.73 126127 chr4 10447876 10447879 TGTT - ZNF518B K25Sfs*29 0.002 0 0 2 2 0 0.005 0 0 0 0 0 126128 chr4 108535428 108535428 A G rs375938383 PAPSS1 Nonsynonymous SNV Y618H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 126129 chr3 42242512 42242512 A G rs775662613 TRAK1 Nonsynonymous SNV S391G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.9 126130 chr20 60937477 60937477 G A rs139478345 LAMA5 Synonymous SNV N143N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.11 126131 chr20 60971397 60971397 C T rs41284974 CABLES2 Nonsynonymous SNV M167I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 24.3 126132 chr16 1388618 1388618 G A rs11642118 BAIAP3 Nonsynonymous SNV R23H 0.009 0.005 0.003 1 11 2 0.003 1 0 0 0 0 29.3 126133 chr5 135364872 135364872 A C TGFBI Nonsynonymous SNV Q43P 0.002 0 0 0 2 0 0 0 0 0 0 0 21 126134 chr4 128842893 128842893 A G rs191172038 MFSD8 Nonsynonymous SNV F274S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.18 126135 chr3 19554585 19554587 TCT - rs558659525 KCNH8 S737del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 126136 chr20 61467883 61467883 C T rs146578812 COL9A3 Synonymous SNV S534S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.801 126137 chr16 1492438 1492438 C T rs140200868 CCDC154 Nonsynonymous SNV R215Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.805 126138 chr4 140444512 140444512 C T rs141988823 SETD7 Nonsynonymous SNV E214K 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 23.6 126139 chr20 62178513 62178513 C T rs138464879 SRMS Nonsynonymous SNV V102M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.7 126140 chr4 1219176 1219176 G A rs1045458 CTBP1 Synonymous SNV R173R 0.014 0.013 0.027 4 16 5 0.01 8 0 0 1 0 14.54 126141 chr2 29344334 29344334 C G rs115065391 CLIP4 Nonsynonymous SNV S27C 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 15.11 126142 chr2 204073398 204073398 G C rs767715293 NBEAL1 Nonsynonymous SNV Q2486H 0 0.005 0 0 0 2 0 0 0 0 0 0 18.92 126143 chr5 140176639 140176639 A T PCDHA2 Nonsynonymous SNV N697I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 126144 chr20 62328189 62328189 G A rs140974898 TNFRSF6B Synonymous SNV P23P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.07 126145 chr20 62421685 62421685 C T rs373457237 ZBTB46 Synonymous SNV A142A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.796 126146 chr2 207040964 207040964 C T rs779841717 GPR1 Synonymous SNV V336V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.589 126147 chr16 2810469 2810469 C T rs150235008 SRRM2 Nonsynonymous SNV P334L 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 Benign 13.08 126148 chr3 35758844 35758844 C G rs139185498 ARPP21 Synonymous SNV L296L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 126149 chr2 33589423 33589423 G A rs766040820 LTBP1 Nonsynonymous SNV E1146K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 126150 chr3 49568829 49568829 G A DAG1 Synonymous SNV V295V 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Uncertain significance 1.832 126151 chr3 49662566 49662566 C T rs140421176 BSN Nonsynonymous SNV T128M 0.003 0.008 0.007 3 3 3 0.008 2 0 0 0 0 22.7 126152 chr4 129867228 129867228 C T rs112358448 SCLT1 Nonsynonymous SNV R458H 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 27 126153 chr3 49760503 49760503 C G rs368542417 GMPPB Nonsynonymous SNV D102H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Uncertain significance 24 126154 chr4 129891583 129891583 C T rs115924008 SCLT1 Nonsynonymous SNV E243K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.6 126155 chr21 16337448 16337448 C A rs28707654 NRIP1 Synonymous SNV G1022G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.335 126156 chr21 16337538 16337538 G A rs28587162 NRIP1 Synonymous SNV S992S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.033 126157 chr21 16338814 16338814 T C rs9975169 NRIP1 Nonsynonymous SNV N567S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.2 126158 chr21 17203878 17203878 T C rs372511582 USP25 Synonymous SNV F641F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.795 126159 chr21 26978766 26978766 G C rs373337013 MRPL39 Nonsynonymous SNV A92G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 29.5 126160 chr3 5024902 5024902 G A rs763224628 BHLHE40 Nonsynonymous SNV R255H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 126161 chr16 3440500 3440500 C A rs117689911 ZSCAN32 Nonsynonymous SNV A51S 0.011 0.005 0.017 8 13 2 0.021 5 1 0 0 1 9.5 126162 chr4 140811087 140811087 C - rs751580697 MAML3 Q501Hfs*21 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 126163 chr4 140811089 140811096 GCTGCTGC - rs754718183 MAML3 Q499Afs*25 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 126164 chr3 38941494 38941494 C T rs745884793 SCN11A Nonsynonymous SNV R638H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 126165 chr15 42127384 42127384 T C rs754121935 JMJD7, JMJD7-PLA2G4B Synonymous SNV D145D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 126166 chr5 1443151 1443151 G A rs6351 SLC6A3 Synonymous SNV P54P 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 5.292 126167 chr5 14488158 14488158 C G rs779173803 TRIO Nonsynonymous SNV P2474R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 126168 chr3 39307425 39307425 A G rs376411124 CX3CR1 Synonymous SNV N192N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 0.001 126169 chr21 32253611 32253611 G A rs79258920 KRTAP11-1 Nonsynonymous SNV S78F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 126170 chr15 42614000 42614000 C T rs748256522 GANC Nonsynonymous SNV P359S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 126171 chr15 42974713 42974713 C T rs138121440 STARD9 Nonsynonymous SNV T826M 0.015 0.013 0.017 4 18 5 0.01 5 0 1 0 0 Likely benign 24.7 126172 chr3 42906845 42906845 G A rs373940627 ACKR2 Nonsynonymous SNV C284Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 126173 chr15 45390213 45390213 C T rs138971379 DUOX2 Nonsynonymous SNV V1187I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.28 126174 chr4 155412012 155412012 G C rs17031725 DCHS2 Nonsynonymous SNV R166G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.89 126175 chr4 155412090 155412090 T C rs189750850 DCHS2 Nonsynonymous SNV S140G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.06 126176 chr4 155412480 155412480 C G rs537827508 DCHS2 Nonsynonymous SNV E10Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.42 126177 chr21 36410948 36410948 - AG rs774640596 RUNX1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 126178 chr15 49090175 49090175 G A rs2289181 CEP152 Nonsynonymous SNV S54L 0.017 0.01 0.01 3 20 4 0.008 3 0 0 0 0 Benign 20.1 126179 chr2 61021908 61021908 G A rs147986723 PAPOLG Nonsynonymous SNV V685M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 126180 chr4 183720838 183720838 - GTTTGGGGT TENM3 R2478_R2479insVWG 0.003 0.008 0 0 3 3 0 0 0 0 0 0 126181 chr4 183720839 183720839 - CTCACGGCGGCCCCCGTGGCCCGAAGCTGCTCACTGCCTCTCTGCGGCTGCCCCAGGGTGCACACAGGTTGTCCCCGCCTCATCCTCCTTGCGGGAAGGAGGGCA TENM3 R2478_R2479insPHGGPRGPKLLTASLRLPQGAHRLSPPHPPCGKEG 0.003 0.008 0 0 3 3 0 0 0 0 0 0 126182 chr2 61348330 61348330 G A KIAA1841 Nonsynonymous SNV G534D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 126183 chr5 149431476 149431476 C T rs188426859 HMGXB3 Synonymous SNV Y1034Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.801 126184 chr4 158281128 158281128 C T rs143272523 GRIA2 Synonymous SNV A708A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 11.82 126185 chr2 61468763 61468763 T C rs763300142 USP34 Nonsynonymous SNV K2237E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 126186 chr4 1843411 1843411 G C LETM1 Nonsynonymous SNV A86G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.749 126187 chr4 16215451 16215451 C T rs6823623 TAPT1 Synonymous SNV K90K 0.006 0.003 0.014 1 7 1 0.003 4 0 0 1 0 13.9 126188 chr4 16590393 16590393 T C rs150687426 LDB2 Synonymous SNV T157T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.841 126189 chr4 169209445 169209445 T C rs570393392 DDX60 Nonsynonymous SNV I355V 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 9.471 126190 chr3 46244902 46244902 G A rs141128686 CCR1 Synonymous SNV Y301Y 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 0.188 126191 chr3 46658694 46658694 C T rs766427639 FAM240A Nonsynonymous SNV R13C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 126192 chr15 57918042 57918042 T C rs377700253 GCOM1, MYZAP Synonymous SNV R159R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.009 126193 chr4 169819835 169819835 A G rs113676921 PALLD Synonymous SNV T90T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.244 126194 chr3 47049880 47049880 C T rs971833983 NBEAL2 Synonymous SNV S2575S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 126195 chr5 154200864 154200864 A G FAXDC2 Synonymous SNV L267L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.5 126196 chr3 9489593 9489593 G C rs199595728 SETD5 Nonsynonymous SNV G669A 0.007 0 0 4 8 0 0.01 0 0 0 0 0 18.53 126197 chr3 47888828 47888828 C A rs145758649 DHX30 Synonymous SNV R665R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.62 126198 chr3 47891160 47891160 A C DHX30 Nonsynonymous SNV M1078L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 126199 chr15 63986657 63986657 C G rs772181978 HERC1 Synonymous SNV L1778L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.026 126200 chr2 73441424 73441426 CTT - rs766987772 SMYD5 F11del 0.001 0 0 0 1 0 0 0 0 0 0 0 126201 chr4 25767013 25767013 G A SEL1L3 Stop gain Q929X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 126202 chr5 159776733 159776733 C A rs774189446 C1QTNF2 Synonymous SNV G100G 0.007 0 0 1 8 0 0.003 0 0 0 0 0 13.79 126203 chr15 65490459 65490459 T A CILP Nonsynonymous SNV N722I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.935 126204 chr2 74653400 74653400 T C rs76772255 RTKN Synonymous SNV Q554Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.004 126205 chr21 46931121 46931121 G A rs202104330 COL18A1 Nonsynonymous SNV V1441I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 126206 chr5 16703051 16703051 T C rs373605365 MYO10 Synonymous SNV K831K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.748 126207 chr4 36292284 36292284 C G rs746350889 DTHD1 Nonsynonymous SNV L103V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.39 126208 chr3 52380559 52380559 G A DNAH1 Nonsynonymous SNV M576I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 126209 chr3 9870684 9870684 G C rs201240908 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV E530Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.2 126210 chr3 52454358 52454358 C T PHF7 Nonsynonymous SNV A107V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 126211 chr22 17589283 17589283 G T rs146478431 IL17RA Nonsynonymous SNV V358L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 126212 chr5 172395469 172395469 G A rs767751234 RPL26L1 Nonsynonymous SNV R59Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 126213 chr5 175782721 175782721 C G KIAA1191 Star tloss M1? 0.005 0 0 4 6 0 0.01 0 0 0 0 0 25.3 126214 chr22 18029090 18029090 A G rs368541276 CECR2 Synonymous SNV P1207P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.142 126215 chr22 18310515 18310515 C T rs201461651 MICAL3 Nonsynonymous SNV A1030T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.927 126216 chr15 73076048 73076048 G C rs139418345 ADPGK-AS1 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 8.496 126217 chr2 88883024 88883024 T C rs759175402 EIF2AK3 Nonsynonymous SNV N412D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 126218 chr22 19710212 19710212 G A rs117912592 SEPT5-GP1BB 0 0 0.007 0 0 0 0 2 0 0 0 0 9.662 126219 chr22 19750797 19750797 C T rs139776757 TBX1 Synonymous SNV F148F 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign/Likely benign 19.53 126220 chr16 50750581 50750581 C T rs104895486 NOD2 Nonsynonymous SNV A822V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 126221 chr3 53889368 53889368 G A rs2232337 IL17RB Nonsynonymous SNV G177R 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 29.7 126222 chr2 238287472 238287472 G A rs748301065 COL6A3 Synonymous SNV R361R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.873 126223 chr4 2514853 2514853 T C RNF4 Nonsynonymous SNV S140P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 126224 chr5 177034356 177034356 C T rs145129446 B4GALT7 Nonsynonymous SNV T156M 0.005 0 0 4 6 0 0.01 0 0 0 0 0 25.8 126225 chr4 113565835 113565835 G A rs79383654 LARP7 Nonsynonymous SNV E4K 0.02 0.008 0.024 8 24 3 0.021 7 0 0 0 0 Likely benign 23 126226 chr22 21799637 21799637 G A rs779006524 HIC2 Synonymous SNV A151A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 126227 chr2 239039619 239039619 C T rs1000805144 ESPNL Nonsynonymous SNV T387M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 126228 chr4 3318993 3318993 G A rs748236080 RGS12 Nonsynonymous SNV D366N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 126229 chr2 239053600 239053600 C T rs201340459 KLHL30 Nonsynonymous SNV A322V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.69 126230 chr3 10346747 10346747 C T rs140403618 SEC13 Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 126231 chr16 57112967 57112967 C A rs77117879 NLRC5 Nonsynonymous SNV P1667Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.237 126232 chr5 178581175 178581175 G A rs368720430 ADAMTS2 Synonymous SNV D419D 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.79 126233 chr4 3491468 3491468 A G rs373509531 DOK7 Nonsynonymous SNV T236A 0.003 0 0 0 3 0 0 0 0 0 0 0 2.66 126234 chr4 55964925 55964925 G A rs149745504 KDR Nonsynonymous SNV T771M 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 26.1 126235 chr4 113353358 113353358 G A rs35129721 ALPK1 Synonymous SNV A807A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 6.263 126236 chr4 123252539 123252539 C T rs77586875 KIAA1109 Nonsynonymous SNV R3770C 0.008 0.003 0 0 9 1 0 0 0 0 0 0 35 126237 chr2 241708610 241708610 G A rs375180690 KIF1A Synonymous SNV A470A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.98 126238 chr3 68782297 68782297 C T rs746528039 TAFA4 Nonsynonymous SNV R140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 126239 chr16 58550172 58550172 A G rs371010569 SETD6 Nonsynonymous SNV Q134R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 126240 chr4 5975535 5975535 C G rs142005920 C4orf50 Nonsynonymous SNV E1140Q 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 6.8 126241 chr4 126373543 126373543 T C rs149757393 FAT4 Nonsynonymous SNV L3793P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 126242 chr3 74350933 74350933 C T rs140530465 CNTN3 Nonsynonymous SNV V604M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.9 126243 chr22 29141930 29141930 A C rs17885263 HSCB Nonsynonymous SNV I12L 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 20.4 126244 chr16 67315639 67315639 C T rs778264379 PLEKHG4 Nonsynonymous SNV P221S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 126245 chr16 67697594 67697594 A C rs747782761 ENKD1 Nonsynonymous SNV Y237D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 126246 chr16 67974113 67974113 G A rs138943456 LCAT Synonymous SNV Y339Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.076 126247 chr16 68002353 68002358 TCCAGC - rs748785239 SLC12A4 E33_L34del 0 0.003 0 0 0 1 0 0 0 0 0 0 126248 chr4 13602229 13602229 G C rs144175591 BOD1L1 Nonsynonymous SNV L2099V 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 3.849 126249 chr3 9476069 9476069 C T rs778124040 SETD5 Nonsynonymous SNV R77C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 126250 chr4 139964385 139964385 C T rs138828941 NOCT Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 126251 chr3 97661280 97661280 T C rs768796973 CRYBG3 Synonymous SNV D2939D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.514 126252 chr22 31283676 31283676 G A rs181438870 LOC107985544 0 0 0.007 0 0 0 0 2 0 0 0 0 1.112 126253 chr22 31285756 31285756 T A rs139719516 LOC107985544 0 0 0.003 0 0 0 0 1 0 0 0 0 3.784 126254 chr4 148559892 148559892 C T rs77293186 PRMT9 Nonsynonymous SNV V472I 0.007 0.013 0.007 5 8 5 0.013 2 0 0 0 0 14.56 126255 chr4 15004794 15004794 T A rs935417543 CPEB2 Nonsynonymous SNV F166Y 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 23.1 126256 chr4 15004795 15004795 C A rs1054294649 CPEB2 Nonsynonymous SNV F166L 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 23.7 126257 chr22 32666087 32666087 C T rs16990070 SLC5A4-AS1 0 0 0.058 0 0 0 0 17 0 0 5 0 1.862 126258 chr4 76530742 76530742 C A CDKL2 Nonsynonymous SNV D207Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 126259 chr4 5721084 5721084 A G rs41269547 EVC Nonsynonymous SNV D95G 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 126260 chr3 121413951 121413951 A G rs144687901 GOLGB1 Nonsynonymous SNV S1727P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 20.6 126261 chr5 43509425 43509425 C T rs374871581 C5orf34 Nonsynonymous SNV R6Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.31 126262 chr5 473406 473406 C A rs540024518 SLC9A3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.546 126263 chr4 100542308 100542308 G C rs144590904 MTTP Nonsynonymous SNV L838F 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 126264 chr22 36124810 36124810 G T rs142361344 APOL5 Nonsynonymous SNV Q389H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.2 126265 chr2 3482620 3482620 G A rs563214236 TRAPPC12 Synonymous SNV A627A 0 0.005 0 0 0 2 0 0 0 0 0 0 5.637 126266 chr4 5990191 5990191 C T rs6846626 C4orf50 Synonymous SNV L1015L 0.014 0.013 0.02 7 17 5 0.018 6 0 0 0 0 3.923 126267 chr4 5991558 5991558 C T rs57792940 C4orf50 Nonsynonymous SNV G560S 0.016 0.013 0.024 7 19 5 0.018 7 0 0 0 0 1.926 126268 chr4 5991614 5991614 C A rs61024715 C4orf50 Nonsynonymous SNV S541I 0.015 0.008 0.017 7 18 3 0.018 5 0 0 0 0 6.482 126269 chr2 37455887 37455887 T G rs755814175 CEBPZ Nonsynonymous SNV D150A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.002 126270 chr4 160275116 160275116 G A rs145873578 RAPGEF2 Synonymous SNV T1362T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.899 126271 chr22 38220948 38220948 A C rs201769452 GALR3 Nonsynonymous SNV Y193S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 27.2 126272 chr3 124369782 124369782 G T rs35298864 KALRN Nonsynonymous SNV R201M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 28.6 126273 chr4 169142892 169142892 G T rs17053806 DDX60 Synonymous SNV V1655V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.633 126274 chr22 38384832 38384832 C T rs537196814 MIR4534 0 0 0.003 0 0 0 0 1 0 0 0 0 3.747 126275 chr4 169146726 169146726 T C rs17053812 DDX60 Synonymous SNV K1545K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.987 126276 chr22 38822933 38822933 C G rs200313955 KCNJ4 Nonsynonymous SNV G402A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 126277 chr4 169343684 169343684 G A rs188055804 DDX60L Synonymous SNV N745N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 126278 chr4 83350732 83350746 GCTGCCGCGGCGGCC - rs749981753 HNRNPDL R33_Q37del 0.001 0 0 0 1 0 0 0 0 0 0 0 126279 chr5 56208889 56208889 C T rs144207188 SETD9 Nonsynonymous SNV P173L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 126280 chr4 113359702 113359702 G A rs34677416 ALPK1 Nonsynonymous SNV R1006Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 34 126281 chr3 124909268 124909268 A G rs777897151 SLC12A8 Nonsynonymous SNV M50T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 126282 chr4 1164948 1164948 G T SPON2 Nonsynonymous SNV P159T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 126283 chr2 44223080 44223080 C A rs200686732 LRPPRC Nonsynonymous SNV A3S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.5 126284 chr5 64931169 64931169 G A rs767746227 TRAPPC13 Nonsynonymous SNV V30I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.93 126285 chr5 65058816 65058816 C G rs149080141 NLN Nonsynonymous SNV H111D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 126286 chr4 871449 871449 C G rs142221119 GAK Nonsynonymous SNV G525R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 126287 chr5 67589211 67589211 C G PIK3R1 Nonsynonymous SNV S37C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 126288 chr22 42482196 42482196 G A rs150607291 NDUFA6 Synonymous SNV H126H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.279 126289 chr4 177100714 177100714 G A rs143706533 WDR17 Nonsynonymous SNV R1279Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 34 126290 chr3 128627848 128627848 T C ACAD9 Nonsynonymous SNV M464T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.635 126291 chr4 76416949 76416949 C T rs761667516 RCHY1 Nonsynonymous SNV G125E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 126292 chr4 126241880 126241880 T C FAT4 Synonymous SNV S1438S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.297 126293 chr4 89708946 89708946 C T rs544975687 FAM13A Nonsynonymous SNV R56H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 126294 chr22 45204889 45204889 C T rs948319739 ARHGAP8 Synonymous SNV D101D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 126295 chr4 90169638 90169638 A G GPRIN3 Nonsynonymous SNV S542P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 126296 chr4 184931232 184931232 T C rs747226106 STOX2 Nonsynonymous SNV I414T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 126297 chr22 45996293 45996293 C T rs61739202 FBLN1 Synonymous SNV N693N 0.001 0.01 0.007 2 1 4 0.005 2 0 0 0 0 16.67 126298 chr4 96090511 96090511 G A rs142912978 UNC5C Synonymous SNV G890G 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 10.28 126299 chr4 983220 983220 C T rs763786159 SLC26A1 Nonsynonymous SNV G503S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.62 126300 chr16 863560 863560 G A rs770246432 PRR25 Nonsynonymous SNV R303Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 126301 chr3 132277849 132277849 C T rs140712582 ACAD11 Nonsynonymous SNV R770Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.521 126302 chr4 187197001 187197001 T C F11 Synonymous SNV D182D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.105 126303 chr3 133099833 133099833 A C TMEM108 Synonymous SNV T426T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 126304 chr4 187534368 187534368 C T rs746965574 FAT1 Nonsynonymous SNV D3120N 0.001 0 0 0 1 0 0 0 0 0 0 0 30 126305 chr2 69757829 69757829 C T AAK1 Synonymous SNV T222T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 126306 chr4 187549701 187549701 G A rs763412920 FAT1 Nonsynonymous SNV L1514F 0 0 0 3 0 0 0.008 0 0 0 0 0 27.4 126307 chr2 71036424 71036424 A T rs782727721 CLEC4F Stop gain C583X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 126308 chr3 134293705 134293705 G A rs747561212 CEP63 Nonsynonymous SNV R467H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 126309 chr5 110819789 110819789 C T CAMK4 Synonymous SNV I152I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 126310 chr2 71590315 71590315 C T rs922744388 ZNF638 Nonsynonymous SNV S471L 0 0.003 0 0 0 1 0 0 0 0 0 0 28 126311 chr16 1841351 1841351 G A rs756502511 IGFALS Synonymous SNV G394G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.331 126312 chr22 50988376 50988376 T C rs141222336 KLHDC7B Nonsynonymous SNV L1235P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 126313 chr3 141164788 141164788 A G rs373979478 ZBTB38 Nonsynonymous SNV I1186M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 126314 chr16 2027751 2027751 C T rs548398645 TBL3 Synonymous SNV T636T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.078 126315 chr4 88011156 88011156 G A rs143849283 AFF1 Synonymous SNV P6P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 12.4 126316 chr4 159789307 159789307 G A rs532436555 FNIP2 Nonsynonymous SNV V153I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 126317 chr3 150128161 150128161 C T rs201624303 TSC22D2 Nonsynonymous SNV P342S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.05 126318 chr16 2849115 2849115 T C rs1020983700 PRSS41 Nonsynonymous SNV C96R 0 0 0 2 0 0 0.005 0 0 0 0 0 7.58 126319 chr5 94814062 94814062 G A rs754768303 TTC37 Nonsynonymous SNV R1433W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.7 126320 chr2 105900795 105900795 G - TGFBRAP1 L367Wfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 126321 chr2 85598614 85598614 A G rs778937204 ELMOD3 Nonsynonymous SNV Y179C 0.004 0.01 0 0 5 4 0 0 0 0 0 0 29 126322 chr2 85617310 85617310 G A rs34973107 ELMOD3 Nonsynonymous SNV A289T 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Benign/Likely benign 26 126323 chr17 2297622 2297622 G T MNT Synonymous SNV V224V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.169 126324 chr17 2996027 2996027 A C rs137876385 OR1D2 Nonsynonymous SNV H88Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.098 126325 chr2 110372648 110372648 G T rs768666233 SOWAHC Synonymous SNV G194G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.623 126326 chr5 132083332 132083332 C T CCNI2 Nonsynonymous SNV P49S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.27 126327 chr5 132086671 132086671 G A rs111822821 CCNI2 Synonymous SNV P252P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 9.201 126328 chr4 4389432 4389432 C T rs142822048 NSG1 Nonsynonymous SNV P26S 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 32 126329 chr3 158422580 158422580 C A RARRES1 Nonsynonymous SNV W224C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 126330 chr4 44684360 44684360 G A GUF1 Nonsynonymous SNV A173T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 126331 chr3 160958929 160958929 C T rs141950604 NMD3 Synonymous SNV L283L 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 14.71 126332 chr2 113890284 113890284 G A rs45507693 IL1RN Nonsynonymous SNV A124T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 4.647 126333 chr4 48082001 48082001 T C rs947698650 TXK Synonymous SNV L367L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 126334 chr4 178355579 178355579 C T rs770570725 AGA Nonsynonymous SNV A255T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 126335 chr2 115919576 115919576 A C rs376052525 DPP10 Synonymous SNV R15R 0 0 0.031 2 0 0 0.005 9 0 0 1 1 3.501 126336 chr5 112179229 112179229 A G APC Synonymous SNV Q2628Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 126337 chr3 168833953 168833953 G T rs141081950 MECOM Synonymous SNV P381P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.01 126338 chr6 109480249 109480249 C T rs781457085 CEP57L1 Stop gain R118X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 126339 chr4 185012515 185012515 C G rs370136512 ENPP6 Nonsynonymous SNV A380P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 126340 chr4 54966733 54966733 G A rs755157514 GSX2 Synonymous SNV G74G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.724 126341 chr17 4448592 4448592 T A rs142437020 MYBBP1A Nonsynonymous SNV T708S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.24 126342 chr3 10334546 10334546 C T rs139684563 GHRL Nonsynonymous SNV G18R 0.006 0.018 0 3 7 7 0.008 0 0 0 0 0 7.017 126343 chr4 55973932 55973932 A C rs56286620 KDR Nonsynonymous SNV L462V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 19.6 126344 chr2 124771950 124771950 C A rs115178827 LOC107985820 0 0 0.014 0 0 0 0 4 0 0 0 0 2.613 126345 chr2 124999880 124999880 C T rs369801109 CNTNAP5 Synonymous SNV Y97Y 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Likely benign 12.41 126346 chr5 138729095 138729095 G A rs564225693 PROB1 Nonsynonymous SNV P559L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.578 126347 chr5 138729124 138729124 A G rs373584534 PROB1 Synonymous SNV P549P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.614 126348 chr2 127944870 127944870 C T rs575267325 CYP27C1 Nonsynonymous SNV V366M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 126349 chr5 122425990 122425990 - CTCCGCCTT rs751156065 PRDM6 S95_C96insAFS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 126350 chr3 184102814 184102814 G A rs138882380 CHRD Nonsynonymous SNV V536M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 126351 chr3 185181340 185181340 T C rs56303519 MAP3K13 Synonymous SNV A220A 0.009 0.005 0.007 1 11 2 0.003 2 0 0 0 0 8.086 126352 chr3 113634682 113634682 A C rs78547874 GRAMD1C Nonsynonymous SNV I158L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 9.826 126353 chr4 30724163 30724163 C T rs115429836 PCDH7 Synonymous SNV I373I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.75 126354 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQ 0.004 0 0 1 5 0 0.003 0 0 0 0 0 126355 chr17 7156287 7156297 GTGAAGGTTTT - ELP5 E70Lfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 126356 chr4 3424273 3424273 C G RGS12 Nonsynonymous SNV D355E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 126357 chr4 7026852 7026852 G A rs763421852 TBC1D14 Nonsynonymous SNV E347K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 126358 chr5 140753671 140753671 T G rs200348921 PCDHGA6 Nonsynonymous SNV H7Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.613 126359 chr6 129419332 129419332 G A rs149347601 LAMA2 Synonymous SNV A137A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.52 126360 chr3 189612282 189612282 G A rs140508531 TP63 Synonymous SNV E499E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 7.626 126361 chr3 190326868 190326868 A G rs147965324 IL1RAP Synonymous SNV P145P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.914 126362 chr6 129955235 129955235 C T ARHGAP18 Nonsynonymous SNV E190K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 126363 chr3 191107384 191107384 T C rs769648342 CCDC50 Synonymous SNV S298S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.653 126364 chr4 71500055 71500055 G A rs768470071 ENAM Nonsynonymous SNV G81S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 126365 chr4 39088343 39088343 C T KLHL5 Nonsynonymous SNV P355L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 126366 chr2 160994197 160994197 C T rs55841905 ITGB6 Nonsynonymous SNV G375R 0.004 0.008 0.01 2 5 3 0.005 3 0 0 0 0 Benign 29.4 126367 chr2 162870926 162870926 T C rs72868637 DPP4 Synonymous SNV K539K 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 5.762 126368 chr2 163080982 163080982 A G rs16846391 FAP Synonymous SNV Y118Y 0.008 0.008 0.003 3 9 3 0.008 1 1 0 0 0 2.63 126369 chr2 163137871 163137871 C G rs12479043 IFIH1 Synonymous SNV T497T 0.008 0.005 0.017 3 9 2 0.008 5 1 0 0 0 12.53 126370 chr2 163137983 163137983 T C rs10930046 IFIH1 Nonsynonymous SNV H460R 0.008 0.008 0.02 5 9 3 0.013 6 1 0 1 0 9.6 126371 chr5 140176610 140176610 G A rs570047063 PCDHA2 Synonymous SNV A687A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.7 126372 chr2 163175656 163175656 A C rs11897697 GCA Nonsynonymous SNV R4S 0.005 0.005 0.017 3 6 2 0.008 5 0 0 0 0 10.3 126373 chr2 1652693 1652693 G A rs761397457 PXDN Synonymous SNV T953T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.298 126374 chr5 145508298 145508298 A G rs141727672 LARS1 Synonymous SNV Y893Y 0.008 0.013 0 6 9 5 0.015 0 0 1 0 1 Benign 0.628 126375 chr6 138196001 138196001 G A TNFAIP3 Nonsynonymous SNV M105I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 126376 chr6 138734024 138734024 G A rs118046755 HEBP2 Nonsynonymous SNV D154N 0.009 0.003 0.003 5 10 1 0.013 1 0 0 0 0 23.8 126377 chr2 166915084 166915084 G C rs148442069 SCN1A Nonsynonymous SNV H127D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.3 126378 chr3 123166430 123166430 C T rs150947472 ADCY5 Synonymous SNV Q321Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.716 126379 chr5 140735221 140735221 T C rs199886630 PCDHGA4 Nonsynonymous SNV F183L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.9 126380 chr5 140745171 140745171 T C rs370603640 PCDHGA5 Nonsynonymous SNV M425T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 126381 chr4 48343995 48343995 G C rs776588859 SLAIN2 Nonsynonymous SNV G80A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 126382 chr5 140788592 140788592 G T rs202094928 PCDHGB6 Nonsynonymous SNV A275S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.45 126383 chr6 151226793 151226793 A G MTHFD1L Nonsynonymous SNV E264G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 126384 chr5 140790021 140790021 C T rs199849689 PCDHGB6 Nonsynonymous SNV S751F 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.8 126385 chr5 140869177 140869177 C G rs142775705 PCDHGC5 Nonsynonymous SNV L124V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.07 126386 chr5 141023917 141023917 G A rs150119878 FCHSD1 Synonymous SNV P577P 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 9.465 126387 chr4 79525490 79525490 C T rs749078089 ANXA3 Synonymous SNV D283D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 126388 chr2 170557667 170557667 A C rs146969607 PHOSPHO2 Nonsynonymous SNV E62D 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 21.4 126389 chr3 27161336 27161336 C T rs56347478 NEK10 Synonymous SNV P394P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.466 126390 chr5 149375886 149375886 C T rs149642954 TIGD6 Nonsynonymous SNV R9H 0.006 0.008 0.003 7 7 3 0.018 1 0 0 0 0 0.414 126391 chr3 32860172 32860172 C T rs781675646 TRIM71 Synonymous SNV S200S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 126392 chr2 179325736 179325736 G A rs199841343 PJVK Nonsynonymous SNV R267H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.33 126393 chr2 179404402 179404402 T C rs149001703 TTN Nonsynonymous SNV N23732S 0.009 0.005 0.014 1 10 2 0.003 4 0 0 0 0 Benign/Likely benign 11.25 126394 chr2 179516902 179516902 T G rs749227850 TTN Synonymous SNV P10638P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.374 126395 chr5 149404199 149404199 G A rs187332638 HMGXB3 Synonymous SNV G306G 0.003 0.01 0.003 0 4 4 0 1 0 1 0 0 0.955 126396 chr4 6303445 6303445 G A rs139040290 WFS1 Synonymous SNV T641T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.424 126397 chr5 149431421 149431421 G A rs201643282 HMGXB3 Nonsynonymous SNV G1016D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.134 126398 chr2 179600638 179600638 G A rs184307461 TTN Synonymous SNV D3601D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.147 126399 chr16 57732897 57732897 G C rs149537030 DRC7 Synonymous SNV V113V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.021 126400 chr5 150502492 150502492 A C rs201350840 ANXA6 Nonsynonymous SNV S375A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 126401 chr4 68449380 68449380 G A rs146545610 STAP1 Nonsynonymous SNV D207N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.7 126402 chr6 161152905 161152905 C T rs4252129 PLG Nonsynonymous SNV R523W 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 22.8 126403 chr6 165806154 165806154 G A rs770162342 PDE10A Nonsynonymous SNV T546M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.59 126404 chr2 186678454 186678454 A C FSIP2 Nonsynonymous SNV L6670F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 126405 chr3 43390067 43390067 C T rs149444340 SNRK-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.983 126406 chr3 14695976 14695976 T C rs199752374 CCDC174 Nonsynonymous SNV F29S 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 29.8 126407 chr4 76442047 76442047 C T rs754908166 THAP6 Nonsynonymous SNV A49V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 126408 chr5 158743742 158743742 C T rs377524637 IL12B Nonsynonymous SNV R313H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 126409 chr6 170887734 170887734 G A rs938395054 PDCD2 Nonsynonymous SNV T296M 0.002 0 0 0 2 0 0 0 0 0 0 0 1.836 126410 chr3 45152112 45152112 C T rs144577185 CDCP1 Nonsynonymous SNV E293K 0.001 0 0.014 0 1 0 0 4 0 0 0 0 28 126411 chr4 77660239 77660239 C T rs367773952 SHROOM3 Nonsynonymous SNV R305C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 126412 chr2 197298103 197298103 T C HECW2 Synonymous SNV R15R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.13 126413 chr6 1930412 1930412 A G rs745906364 GMDS Synonymous SNV L202L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.248 126414 chr4 79186200 79186200 C T rs7699637 FRAS1 Nonsynonymous SNV P209S 0.003 0.005 0.003 0 3 2 0 1 1 0 0 0 Benign 23.2 126415 chr4 79186257 79186257 T C rs7682296 FRAS1 Nonsynonymous SNV Y228H 0.003 0.005 0.003 0 3 2 0 1 1 0 0 0 Benign 0.42 126416 chr4 79285146 79285146 C G rs74510691 FRAS1 Nonsynonymous SNV T887S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 0.004 126417 chr5 133644409 133644409 T C rs200671028 CDKL3 Synonymous SNV P2P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 12.07 126418 chr3 155571651 155571651 C T rs149571533 SLC33A1 Nonsynonymous SNV E46K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 22.9 126419 chr4 8055963 8055963 G C rs185934307 ABLIM2 Nonsynonymous SNV I15M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 126420 chr2 202512435 202512435 G A rs11894207 MPP4 Synonymous SNV Y566Y 0.012 0.005 0.017 0 14 2 0 5 0 0 0 0 7.121 126421 chr5 125911132 125911132 G A rs57902950 ALDH7A1 Synonymous SNV L225L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 13.54 126422 chr5 176861050 176861050 G A rs74796961 GRK6 Nonsynonymous SNV A82T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 126423 chr5 176863090 176863090 G A rs6556327 GRK6 Synonymous SNV K148K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.5 126424 chr6 26508290 26508290 A G rs41267931 BTN1A1 Synonymous SNV K294K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 13.88 126425 chr4 85636498 85636498 A G rs757837768 WDFY3 Synonymous SNV N2638N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.422 126426 chr5 176931606 176931606 G T rs73349185 DOK3 Nonsynonymous SNV A234D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 126427 chr6 2770292 2770292 A T MYLK4 Nonsynonymous SNV I19N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 126428 chr16 75669991 75669991 T A rs777870101 KARS1 Nonsynonymous SNV Y163F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 20.5 126429 chr5 178772262 178772262 A G rs565885690 ADAMTS2 Nonsynonymous SNV L23P 0.003 0 0 0 4 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 8.625 126430 chr3 169820358 169820358 C A rs763272213 PHC3 Nonsynonymous SNV M902I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 126431 chr4 8609124 8609124 A T rs139569426 CPZ Nonsynonymous SNV K389M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.7 126432 chr5 177675246 177675246 C T rs755777201 COL23A1 Nonsynonymous SNV G387S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 126433 chr4 87732216 87732216 G C rs925097788 PTPN13 Nonsynonymous SNV L2248F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 126434 chr3 172224521 172224521 C T rs745757844 TNFSF10 Nonsynonymous SNV D203N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.426 126435 chr4 88928894 88928894 C T rs773343245 PKD2 Synonymous SNV N3N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 8.785 126436 chr4 88929453 88929453 G A rs117078377 PKD2 Nonsynonymous SNV A190T 0.013 0 0 6 15 0 0.015 0 1 0 0 0 Benign 22.6 126437 chr17 39081614 39081614 C G rs141079166 KRT23 Nonsynonymous SNV E241D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.009 126438 chr6 36068041 36068041 T C rs2815805 MAPK14 Synonymous SNV H253H 0.006 0.005 0.02 3 7 2 0.008 6 0 0 0 0 3.138 126439 chr5 145634603 145634603 G A rs371692716 RBM27 Synonymous SNV Q514Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.377 126440 chr4 983668 983668 G A rs59758572 SLC26A1 Synonymous SNV A353A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.08 126441 chr5 138160248 138160248 G C rs150893072 CTNNA1 Nonsynonymous SNV Q103H 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign/Likely benign 23.2 126442 chr5 32074381 32074381 G A rs754107603 PDZD2 Nonsynonymous SNV A1057T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.217 126443 chr3 53338296 53338299 AGAT - DCP1A I57Pfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 126444 chr2 219498881 219498881 G T rs369726189 PLCD4 Nonsynonymous SNV G554C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 126445 chr3 184071136 184071136 G A rs148545588 CLCN2 Nonsynonymous SNV R600C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 35 126446 chr3 184101429 184101429 C T rs148110430 CHRD Nonsynonymous SNV T480M 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 0.001 126447 chr2 219688586 219688586 G A rs776633727 PRKAG3 Synonymous SNV L457L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 126448 chr5 112176016 112176016 A G rs1057523328 APC Synonymous SNV L1557L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.418 126449 chr6 42072628 42072628 G C rs201213632 C6orf132 Nonsynonymous SNV R1008G 0.007 0 0 5 8 0 0.013 0 0 0 0 0 21.6 126450 chr3 64589978 64589978 G C rs201804556 ADAMTS9 Synonymous SNV P1140P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.272 126451 chr2 220344567 220344567 G T rs771611757 SPEG Synonymous SNV L1716L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.202 126452 chr2 220349385 220349385 C T rs62191887 SPEG Synonymous SNV V2400V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.42 126453 chr3 6903219 6903219 C T rs142650646 GRM7 Synonymous SNV D48D 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 Benign 15.56 126454 chr2 220353891 220353891 G C rs376454387 SPEG Synonymous SNV G2755G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 7.342 126455 chr5 36036064 36036064 C T rs199583598 UGT3A2 Synonymous SNV A402A 0.004 0 0 0 5 0 0 0 0 0 0 0 13.56 126456 chr2 220380010 220380010 C T rs147972580 ASIC4 Synonymous SNV S315S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.26 126457 chr5 38427344 38427344 G A rs372653558 EGFLAM Nonsynonymous SNV G448S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 126458 chr17 40723612 40723612 G A rs145413116 MLX Synonymous SNV Q212Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 10.87 126459 chr5 140711301 140711301 C G PCDHGA1 Synonymous SNV T350T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 126460 chr3 8794729 8794729 C T rs148736817 OXTR Synonymous SNV S368S 0.003 0.01 0.007 2 4 4 0.005 2 0 0 0 0 Benign 13.89 126461 chr6 43400205 43400205 C G rs144459262 ABCC10 Nonsynonymous SNV P120A 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 20.4 126462 chr3 190322044 190322044 T C rs373099766 IL1RAP Synonymous SNV A64A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 7.232 126463 chr3 97541104 97541104 C A rs147018918 CRYBG3 Nonsynonymous SNV F18L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 126464 chr5 41064668 41064668 G C rs377302911 MROH2B Synonymous SNV S122S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.221 126465 chr3 97593674 97593674 G A rs112810829 CRYBG3 Synonymous SNV R1212R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.725 126466 chr3 97594786 97594786 C T rs79581944 CRYBG3 Nonsynonymous SNV T1583M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.658 126467 chr3 97686389 97686389 C G rs35391656 RIOX2 Nonsynonymous SNV A17P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.638 126468 chr6 45390433 45390433 - CAGCAGCAGCAA rs773265213 RUNX2 Q57_E58insQQQQ 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 126469 chr3 97851969 97851969 G A rs149741052 OR5H1 Nonsynonymous SNV R143Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 126470 chr5 127855042 127855042 A G FBN2 Synonymous SNV C184C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 9.233 126471 chr5 153030061 153030061 C A rs775536849 GRIA1 Nonsynonymous SNV A131D 0 0 0.003 3 0 0 0.008 1 0 0 0 0 20.8 126472 chr5 141694021 141694021 G T rs139512218 SPRY4 Nonsynonymous SNV S218Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 126473 chr3 97888239 97888239 G A rs138282085 OR5H15 Synonymous SNV K232K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.41 126474 chr2 228881138 228881138 C T rs779864868 SPHKAP Nonsynonymous SNV A1478T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 126475 chr3 98109709 98109709 T C rs58422508 OR5K3 Nonsynonymous SNV V67A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.056 126476 chr3 98109873 98109873 T C rs57067643 OR5K3 Nonsynonymous SNV C122R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 5.158 126477 chr3 98110038 98110038 T C rs73854830 OR5K3 Nonsynonymous SNV F177L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 25.2 126478 chr3 98251000 98251000 A T rs114940458 GPR15 Synonymous SNV T41T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 126479 chr3 98251272 98251272 A C rs114462906 GPR15 Nonsynonymous SNV Y132S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 126480 chr5 154994 154994 A G PLEKHG4B Nonsynonymous SNV E666G 0 0 0 3 0 0 0.008 0 0 0 0 0 28.7 126481 chr3 98251352 98251352 T A rs61736100 GPR15 Nonsynonymous SNV F159I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.016 126482 chr3 98619974 98619974 G C rs202016309 DCBLD2 Nonsynonymous SNV A66G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 20.7 126483 chr3 98620084 98620084 C A rs373537370 DCBLD2 Synonymous SNV A29A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.4 126484 chr17 44108868 44108868 T C KANSL1 Nonsynonymous SNV T1098A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.313 126485 chr2 231307678 231307678 A G rs200532450 SP100 Nonsynonymous SNV D20G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.2 126486 chr3 9976215 9976215 C T rs199599039 CRELD1 Synonymous SNV P31P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.85 126487 chr6 51524572 51524572 G C rs1005882851 PKHD1 Nonsynonymous SNV S3451C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.166 126488 chr6 51890732 51890732 G A rs2499482 PKHD1 Synonymous SNV T1292T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 5.585 126489 chr4 100237088 100237088 C T rs142861273 ADH1B Synonymous SNV S178S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.08 126490 chr6 51890922 51890922 C G rs2499481 PKHD1 Nonsynonymous SNV W1229S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign/Likely benign 2.009 126491 chr2 233877777 233877777 C A rs903771826 NGEF 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 126492 chr5 150503872 150503872 C T rs138779149 ANXA6 Synonymous SNV A339A 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 20.7 126493 chr6 52147619 52147619 G T rs2307318 MCM3 Synonymous SNV R32R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 126494 chr5 13777417 13777417 C T rs137949961 DNAH5 Nonsynonymous SNV R3000Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 33 126495 chr3 23929073 23929073 C T rs115996277 UBE2E1 Synonymous SNV G40G 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Benign 17.99 126496 chr5 70805723 70805723 G T rs200898204 BDP1 Nonsynonymous SNV R935I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 16.31 126497 chr5 139747064 139747064 G A rs199786527 SLC4A9 Stop gain W628X 0.005 0.01 0 0 6 4 0 0 0 0 0 0 38 126498 chr5 139747102 139747102 T G rs750303227 SLC4A9 Nonsynonymous SNV I641S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 126499 chr5 153857395 153857395 C G rs761768832 HAND1 Synonymous SNV A58A 0.007 0 0 3 8 0 0.008 0 1 0 0 0 Likely benign 13.23 126500 chr5 68715377 68715377 A G rs755442661 MARVELD2 Synonymous SNV P55P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.82 126501 chr5 70785311 70785311 C A rs201849167 BDP1 Nonsynonymous SNV Q432K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.9 126502 chr3 32188222 32188222 T C GPD1L Nonsynonymous SNV L205P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.4 126503 chr4 113107960 113107960 A G FAM241A Nonsynonymous SNV R89G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 126504 chr17 53900156 53900157 AG - rs542192695 PCTP D207Pfs*15 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 126505 chr5 74021798 74021798 A G rs34845453 GFM2 Nonsynonymous SNV I580T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 126506 chr6 66054064 66054064 T A rs140518088 EYS Nonsynonymous SNV E489V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 10.73 126507 chr2 23929501 23929501 C T rs188855651 KLHL29 Synonymous SNV C865C 0.004 0.005 0.014 4 5 2 0.01 4 0 0 0 0 17.44 126508 chr2 241402835 241402835 C T rs373073194 GPC1 Synonymous SNV P263P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 126509 chr5 140306788 140306788 C T rs782141467 PCDHAC1 Nonsynonymous SNV P104L 0.002 0 0 0 2 0 0 0 0 0 0 0 35 126510 chr3 38592527 38592527 G A rs199473634 SCN5A Nonsynonymous SNV T1761M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.9 126511 chr2 241685270 241685270 G A rs143037290 KIF1A Nonsynonymous SNV P986S 0.009 0.005 0.017 1 11 2 0.003 5 0 0 0 0 Conflicting interpretations of pathogenicity 12.96 126512 chr5 173035295 173035295 - CTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTC BOD1 Frameshift insertion I122Tfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 126513 chr4 123843612 123843612 G A NUDT6 Nonsynonymous SNV P39L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 126514 chr17 61559041 61559041 G A rs56394458 ACE Nonsynonymous SNV G354R 0.009 0.003 0.01 2 10 1 0.005 3 0 0 0 0 Benign 26.3 126515 chr6 78471136 78471136 C A rs970817094 MEI4 Synonymous SNV T174T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 126516 chr5 140740771 140740771 C T rs977758534 PCDHGB2 Nonsynonymous SNV P357S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.248 126517 chr4 129120740 129120740 G A rs376946304 LARP1B Nonsynonymous SNV R437Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 126518 chr6 84303295 84303295 G T rs200557175 SNAP91 Nonsynonymous SNV A414D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.3 126519 chr3 40557443 40557443 C A rs35217513 ZNF620 Nonsynonymous SNV P6T 0.008 0.008 0.02 7 9 3 0.018 6 0 0 0 0 0.012 126520 chr5 140797474 140797474 A G rs376057952 PCDHGB7 Synonymous SNV V16V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.974 126521 chr2 242946343 242946343 C T rs775070618 LOC285097 0 0 0.007 0 0 0 0 2 0 0 0 0 2.516 126522 chr5 141019592 141019592 T C rs369910947 RELL2 Synonymous SNV G203G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.298 126523 chr4 1346896 1346896 C T rs143547791 UVSSA Nonsynonymous SNV P210L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.224 126524 chr4 1346963 1346963 G A rs146853550 UVSSA Synonymous SNV A232A 0.004 0 0 0 5 0 0 0 0 0 0 0 7.257 126525 chr2 25536803 25536803 C T rs1055980301 DNMT3A Synonymous SNV A17A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 126526 chr5 14461144 14461144 C T TRIO Synonymous SNV S1740S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 126527 chr5 891298 891298 C T BRD9 Nonsynonymous SNV G73D 0.003 0 0 0 3 0 0 0 0 0 0 0 11.95 126528 chr5 82606642 82606642 G A rs768121949 XRCC4 Nonsynonymous SNV V310M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.818 126529 chr5 89757044 89757044 A G rs35408393 MBLAC2 Synonymous SNV F260F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.054 126530 chr6 90393766 90393766 A G rs117137445 LOC101929057 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 5.241 126531 chr2 26534845 26534845 A G rs745944675 ADGRF3 Nonsynonymous SNV L385P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 126532 chr5 178634621 178634621 C T rs376820857 ADAMTS2 Nonsynonymous SNV A262T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 0.283 126533 chr17 67300885 67300885 C T rs147214019 ABCA5 Synonymous SNV A285A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.62 126534 chr5 179023412 179023412 T C rs761816680 LOC101928445 0.003 0 0 0 3 0 0 0 0 0 0 0 3.168 126535 chr17 70120297 70120297 - CCCATC SOX9 I435_T436insPI 0 0.003 0 0 0 1 0 0 0 0 0 0 126536 chr5 179193441 179193441 C A rs200515773 MAML1 Nonsynonymous SNV P477H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 26.3 126537 chr4 144532644 144532644 A G rs72938299 FREM3 Nonsynonymous SNV F1939S 0.009 0.013 0.01 0 10 5 0 3 0 0 0 0 15.63 126538 chr5 9044551 9044551 G A rs139191700 SEMA5A Synonymous SNV P1013P 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 0.445 126539 chr4 146653623 146653623 T G rs74531946 C4orf51 Nonsynonymous SNV S174A 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 13.87 126540 chr5 147207678 147207678 T C rs17107315 SPINK1 Nonsynonymous SNV N34S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity, risk factor 0.001 126541 chr17 72350436 72350436 T G rs756438076 KIF19 Nonsynonymous SNV L815R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.501 126542 chr5 9052081 9052081 C T rs199614651 SEMA5A Nonsynonymous SNV A917T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.112 126543 chr5 148619446 148619446 G A rs747716272 ABLIM3 Nonsynonymous SNV R338H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 126544 chr5 32010559 32010559 G A rs917688820 PDZD2 Nonsynonymous SNV E460K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 126545 chr17 73038279 73038279 C A rs201437197 ATP5PD Nonsynonymous SNV K72N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 126546 chr5 149569898 149569898 A G rs187423639 SLC6A7 Nonsynonymous SNV K3R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 11.09 126547 chr2 31572980 31572980 C - XDH G914Afs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 126548 chr4 155507475 155507475 C T rs779880607 FGA Nonsynonymous SNV S369N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.818 126549 chr17 73569139 73569139 G T rs755943993 LLGL2 Synonymous SNV L835L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.284 126550 chr6 106959606 106959606 C T rs534717937 CRYBG1 Nonsynonymous SNV A205V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.147 126551 chr3 48617240 48617240 G A rs771521596 COL7A1 Nonsynonymous SNV T1711I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.036 126552 chr17 73831829 73831829 C T rs371924071 UNC13D Synonymous SNV T542T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.02 126553 chr17 73945316 73945316 G A rs773645537 ACOX1 Synonymous SNV N532N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.53 126554 chr5 36219710 36219710 C T rs138373837 NADK2 Nonsynonymous SNV R211H 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Benign 24.3 126555 chr2 36744495 36744495 G A rs112423875 CRIM1 Synonymous SNV E672E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 10.27 126556 chr4 15985895 15985895 G A rs551849678 PROM1 Synonymous SNV I779I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.35 126557 chr5 150923130 150923130 T C rs371832909 FAT2 Nonsynonymous SNV I2520V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 126558 chr6 112486397 112486397 G A rs138153075 LAMA4 Nonsynonymous SNV R545C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 24.6 126559 chr3 49756458 49756458 - T rs767610385 AMIGO3 Frameshift insertion H147Qfs*56 0.001 0.003 0 0 1 1 0 0 0 0 0 0 126560 chr4 169145502 169145502 G A rs375521196 DDX60 Synonymous SNV L1572L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 126561 chr2 39485704 39485704 T C MAP4K3 Nonsynonymous SNV H757R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 126562 chr5 151043111 151043111 G A rs201966091 SPARC Nonsynonymous SNV R311W 0.002 0 0 0 2 0 0 0 0 0 0 0 7.381 126563 chr17 76117124 76117124 G A rs75400929 TMC6 Nonsynonymous SNV P502L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 32 126564 chr2 44993577 44993577 G A rs201420188 CAMKMT Synonymous SNV A257A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.056 126565 chr3 51992165 51992165 G A rs201960127 PCBP4 Nonsynonymous SNV P332L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.7 126566 chr17 76490136 76490136 C T rs747191830 DNAH17 Synonymous SNV A2130A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.04 126567 chr3 52387429 52387429 G A rs145381093 DNAH1 Nonsynonymous SNV R1087H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 24.7 126568 chr3 52425307 52425307 A G rs556006237 DNAH1 Nonsynonymous SNV E3285G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 25.6 126569 chr6 117589484 117589484 G A rs765575571 VGLL2 Nonsynonymous SNV R74H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 126570 chr3 52549488 52549488 G A rs549309835 STAB1 Nonsynonymous SNV R1305Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.8 126571 chr6 119341211 119341211 C T rs41292560 FAM184A Nonsynonymous SNV A302T 0.004 0.01 0 9 5 4 0.023 0 0 0 0 1 16.98 126572 chr2 56210140 56210140 G A rs41291173 MIR217 0 0 0.017 0 0 0 0 5 0 0 0 0 16.88 126573 chr17 77097686 77097686 G A rs542684395 RBFOX3 Nonsynonymous SNV T183M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 19.5 126574 chr6 12122860 12122860 A G rs772174460 HIVEP1 Synonymous SNV P944P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 126575 chr6 129601217 129601217 C T rs117422805 LAMA2 Nonsynonymous SNV T821M 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 126576 chr6 129777604 129777604 A G rs146854942 LAMA2 Nonsynonymous SNV M2278V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23 126577 chr2 62449520 62449520 C T rs147249508 B3GNT2 Synonymous SNV P55P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.387 126578 chr3 53857436 53857436 G A rs200697233 CHDH Synonymous SNV C200C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.891 126579 chr5 60628249 60628249 - GCG ZSWIM6 A56_C57insA 0.002 0 0 0 2 0 0 0 0 0 0 0 126580 chr2 68415815 68415815 C T rs140640493 PPP3R1 Synonymous SNV A17A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.71 126581 chr2 69330818 69330818 T A rs189885330 MIR3126 0 0 0.003 0 0 0 0 1 0 0 0 0 7.252 126582 chr2 69330824 69330824 G A rs182148652 MIR3126 0 0 0.003 0 0 0 0 1 0 0 0 0 4.899 126583 chr2 69330825 69330825 A T rs187256070 MIR3126 0 0 0.003 0 0 0 0 1 0 0 0 0 0.883 126584 chr4 187093124 187093124 T C rs115469004 FAM149A Nonsynonymous SNV F478L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.5 126585 chr6 133783900 133783900 C T rs969199817 EYA4 Nonsynonymous SNV P187L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.1 126586 chr2 69757243 69757243 G A rs376419279 AAK1 Synonymous SNV C256C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.595 126587 chr5 172362200 172362200 G A rs141880390 ERGIC1 Nonsynonymous SNV A218T 0.007 0.005 0.01 0 8 2 0 3 0 0 0 0 22.8 126588 chr2 70502649 70502649 C T rs772261873 PCYOX1 Nonsynonymous SNV A237V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 126589 chr2 71043162 71043162 C T rs782068909 CLEC4F Nonsynonymous SNV V451I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 126590 chr5 67593363 67593363 T C rs3729981 PIK3R1 Synonymous SNV L340L 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 Benign/Likely benign 0.223 126591 chr5 68603851 68603851 A C rs147567034 CCDC125 Nonsynonymous SNV I152R 0.006 0.003 0.01 3 7 1 0.008 3 0 0 0 0 25.4 126592 chr6 131902395 131902395 C T rs751231138 ARG1 Synonymous SNV V114V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.29 126593 chr5 68661127 68661127 C T rs150848424 TAF9 Synonymous SNV P146P 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 11.09 126594 chr5 68661227 68661227 G C rs747941480 TAF9 Nonsynonymous SNV P113R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 126595 chr5 68669714 68669714 A G rs138670053 RAD17 Nonsynonymous SNV T34A 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 0.001 126596 chr5 176023859 176023859 T A rs773758376 GPRIN1 Nonsynonymous SNV S993C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 126597 chr3 69168864 69168864 C T rs9815992 LMOD3 Synonymous SNV S214S 0.005 0.01 0 0 6 4 0 0 0 0 0 0 Benign 12.13 126598 chr17 79204371 79204371 C T rs553598437 TEPSIN Synonymous SNV P334P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 126599 chr7 103969236 103969236 - GCC rs534523702 LHFPL3 A14_M15insA 0.003 0.003 0 0 3 1 0 0 0 0 0 0 126600 chr4 20490564 20490564 A G rs200891878 SLIT2 Nonsynonymous SNV H245R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.12 126601 chr3 73111522 73111522 T C rs772457593 EBLN2 Nonsynonymous SNV I97T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.146 126602 chr2 73339760 73339760 T C RAB11FIP5 Nonsynonymous SNV Q49R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 126603 chr2 73653610 73653610 G A rs45630557 ALMS1 Nonsynonymous SNV V423I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 0.004 126604 chr7 106509619 106509619 C T rs142822484 PIK3CG Nonsynonymous SNV P538L 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Likely benign 20.3 126605 chr7 106509728 106509728 G A rs144082858 PIK3CG Synonymous SNV L574L 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Benign/Likely benign 0.702 126606 chr2 73718017 73718017 T G ALMS1 Nonsynonymous SNV D2976E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 126607 chr6 137018413 137018413 C T rs368038602 MAP3K5 Nonsynonymous SNV E307K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 126608 chr4 2460847 2460847 C T rs118181989 CFAP99 Synonymous SNV I439I 0.017 0.016 0.02 3 20 6 0.008 6 0 0 0 0 8.573 126609 chr5 177674779 177674779 C T rs78984764 COL23A1 Synonymous SNV P422P 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 4.613 126610 chr7 114302158 114302158 T C rs372567072 FOXP2 Synonymous SNV F561F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.616 126611 chr4 26614810 26614810 A G TBC1D19 Nonsynonymous SNV E40G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 126612 chr6 144768900 144768900 G C UTRN Nonsynonymous SNV E629Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 126613 chr2 85823704 85823704 T C rs754462231 RNF181 Nonsynonymous SNV L50P 0 0 0.003 0 0 0 0 1 0 0 0 0 23 126614 chr7 121659233 121659233 C T rs778664781 PTPRZ1 Synonymous SNV S773S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.83 126615 chr5 179298526 179298526 C T rs145113784 TBC1D9B Nonsynonymous SNV R807Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 126616 chr4 36292082 36292082 C T rs530789646 DTHD1 Synonymous SNV C35C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 126617 chr2 88826005 88826005 C T rs148800605 TEX37 Nonsynonymous SNV T37M 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 13.07 126618 chr7 127017245 127017245 T C rs147079677 ZNF800 Nonsynonymous SNV D99G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 126619 chr4 100575474 100575474 C T rs983110665 C4orf54 Nonsynonymous SNV R111Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 126620 chr2 97364850 97364850 C T FER1L5 Synonymous SNV N1529N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 126621 chr2 97527061 97527061 A T rs142553481 SEMA4C Nonsynonymous SNV S602T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 126622 chr6 152554996 152554996 G A rs1043285819 SYNE1 Nonsynonymous SNV R6807C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 126623 chr6 15512468 15512468 G T rs778096519 JARID2 Synonymous SNV G822G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.88 126624 chr6 155469427 155469427 G A rs181691607 TIAM2 Nonsynonymous SNV V663M 0.002 0 0.01 0 2 0 0 3 0 0 1 0 17.7 126625 chr4 39033850 39033850 C T rs758168110 TMEM156 Synonymous SNV P28P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 126626 chr7 129821551 129821551 A G rs189486222 TMEM209 Synonymous SNV N344N 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 17.53 126627 chr6 154360820 154360820 G A rs200964660 OPRM1 Synonymous SNV P47P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.23 126628 chr6 158492660 158492660 C T rs146694394 SYNJ2 Nonsynonymous SNV T419M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 34 126629 chr6 158517271 158517271 G A rs763080057 SYNJ2 Nonsynonymous SNV A1219T 0.004 0 0 0 5 0 0 0 0 0 0 0 10.14 126630 chr3 100947673 100947673 A G rs765987785 IMPG2 Synonymous SNV P1227P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.214 126631 chr18 12546778 12546778 A G rs148239672 SPIRE1 Synonymous SNV A166A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.923 126632 chr3 108076702 108076702 A G rs372052636 HHLA2 Nonsynonymous SNV K233E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.83 126633 chr6 160183210 160183210 C A rs771012131 SOD2-OT1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.11 126634 chr5 37164410 37164410 C A rs781025101 CPLANE1 Nonsynonymous SNV G2518V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.41 126635 chr4 515977 515977 G A rs555564479 PIGG Nonsynonymous SNV R605K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.422 126636 chr3 112063971 112063971 T C rs200570259 CD200 Nonsynonymous SNV I12T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 126637 chr4 57181928 57181928 A G rs751314820 CRACD Nonsynonymous SNV S754G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 126638 chr4 57182635 57182635 G A rs371814523 CRACD Synonymous SNV L989L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.225 126639 chr4 57269297 57269297 G A rs372357103 PPAT Synonymous SNV H190H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.625 126640 chr6 110746141 110746141 T C rs556945678 SLC22A16 Nonsynonymous SNV T557A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.002 126641 chr4 57797467 57797467 C T rs114282228 REST Nonsynonymous SNV P815S 0.005 0.008 0.014 1 6 3 0.003 4 0 0 0 0 7.501 126642 chr6 167717457 167717457 C T rs145360877 UNC93A Stop gain R184X 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Likely benign 35 126643 chr7 143701485 143701485 C T rs779062856 OR6B1 Synonymous SNV Y132Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.991 126644 chr6 117053432 117053432 A G rs192935885 KPNA5 Synonymous SNV Q522Q 0.004 0 0 0 5 0 0 0 0 0 0 0 6.598 126645 chr7 149516484 149516484 G A rs763148001 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 9.744 126646 chr6 18122455 18122455 T C NHLRC1 Nonsynonymous SNV N128S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 126647 chr7 149558154 149558154 C T rs767551948 ZNF862 Synonymous SNV S635S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 126648 chr7 150034533 150034533 G A rs61744057 LRRC61 Nonsynonymous SNV E195K 0.004 0.005 0.02 1 5 2 0.003 6 0 0 0 0 15.63 126649 chr5 61659023 61659023 A G KIF2A Nonsynonymous SNV R380G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 126650 chr7 150171442 150171442 C T rs752841222 GIMAP8 Nonsynonymous SNV A342V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.169 126651 chr4 145579953 145579953 A G rs199620983 HHIP Nonsynonymous SNV T162A 0.002 0.01 0 6 2 4 0.015 0 0 0 0 0 9.42 126652 chr6 127796867 127796867 A C rs61743738 SOGA3 Synonymous SNV P768P 0.003 0.005 0.007 0 3 2 0 2 1 0 0 0 0.096 126653 chr6 26271241 26271241 G A rs2223591 H3C8 Synonymous SNV D124D 0.021 0.021 0.014 5 25 8 0.013 4 1 0 0 0 10.38 126654 chr4 72205150 72205150 C A rs146115336 SLC4A4 Nonsynonymous SNV P62H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 126655 chr6 26033701 26033701 G A rs140279407 HIST1H2AB Synonymous SNV H32H 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 2.309 126656 chr6 129722453 129722453 C A rs56173620 LAMA2 Nonsynonymous SNV R1844S 0.008 0.005 0.003 7 9 2 0.018 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 126657 chr3 123634395 123634395 T A CCDC14 Nonsynonymous SNV E498V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 126658 chr7 1535823 1535823 G A rs763175494 INTS1 Synonymous SNV A560A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 126659 chr5 72795003 72795003 G A rs56029107 BTF3 Synonymous SNV Q59Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.96 126660 chr5 73076551 73076551 C A rs780509291 ARHGEF28 Nonsynonymous SNV S297R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.055 126661 chr3 126571517 126571517 G C CHCHD6 Nonsynonymous SNV E148Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 126662 chr3 128356811 128356811 A C rs762662133 RPN1 Nonsynonymous SNV V155G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 126663 chr6 35427511 35427511 G T rs886061331 FANCE Nonsynonymous SNV E430D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.6 126664 chr4 77818043 77818043 A G rs745826753 SOWAHB Synonymous SNV R320R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.421 126665 chr4 78087012 78087012 A G rs780254344 CCNG2 Nonsynonymous SNV S324G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.061 126666 chr3 129625047 129625047 C T rs6772491 TMCC1-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 4.795 126667 chr4 1643177 1643177 G - rs761712884 FAM53A P347Lfs*13 0.003 0.003 0 0 3 1 0 0 0 0 0 0 126668 chr6 144854281 144854281 G T rs143651227 UTRN Nonsynonymous SNV D2040Y 0.005 0 0 3 6 0 0.008 0 0 0 0 0 28 126669 chr6 36711517 36711517 G A rs149761685 CPNE5 Synonymous SNV D154D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 126670 chr4 8206973 8206973 G A SH3TC1 Nonsynonymous SNV G18S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 126671 chr5 79733650 79733650 G T rs904764780 ZFYVE16 Synonymous SNV G382G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.153 126672 chr7 23731209 23731209 G - rs553824715 FAM221A I154Lfs*2 0.001 0 0.003 0 1 0 0 1 0 0 0 0 126673 chr7 25194757 25194757 G A rs375479092 C7orf31 Synonymous SNV R156R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.858 126674 chr6 40998140 40998140 C T rs115953314 UNC5CL Nonsynonymous SNV G441S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 126675 chr3 133667773 133667773 C G rs142480645 SLCO2A1 Nonsynonymous SNV A302P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 6.332 126676 chr6 41652371 41652371 C T rs767336673 TFEB Nonsynonymous SNV S381N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 126677 chr6 41658872 41658874 TGC - rs754076725 TFEB Q42del 0.001 0 0 0 1 0 0 0 0 0 0 0 126678 chr6 41774568 41774568 C T rs148441118 USP49 Nonsynonymous SNV D52N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 126679 chr5 89943581 89943581 G A rs148097083 ADGRV1 Nonsynonymous SNV G1097S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 126680 chr6 152532664 152532664 C T rs148240825 SYNE1 Synonymous SNV G7447G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.89 126681 chr3 137947799 137947799 A G ARMC8 Nonsynonymous SNV R159G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 126682 chr7 288296 288296 C T FAM20C Synonymous SNV R324R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 126683 chr4 185565689 185565689 T G rs2696060 CASP3 Nonsynonymous SNV D3A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.988 126684 chr6 155752005 155752005 C T rs932607028 NOX3 Nonsynonymous SNV R288Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 34 126685 chr19 1114266 1114266 T C rs757088932 SBNO2 Nonsynonymous SNV I624V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.056 126686 chr3 148741949 148741949 A G GYG1 Nonsynonymous SNV M240V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 126687 chr6 43322806 43322806 C T ZNF318 Nonsynonymous SNV A756T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 126688 chr7 33134848 33134848 A - rs553265417 RP9 *222delinsDKDVTCSTFSSQTLTKEQRKMQSEKAAG* 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 126689 chr6 44216432 44216432 C T rs150194710 HSP90AB1 Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 126690 chr19 1912409 1912409 G A rs576864116 ADAT3 Synonymous SNV S105S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.558 126691 chr6 160109229 160109229 T C rs771361951 SOD2 Nonsynonymous SNV N91S 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 23.9 126692 chr4 99341236 99341236 A G rs751792980 RAP1GDS1 Nonsynonymous SNV E323G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 126693 chr5 100222199 100222199 T G rs111610860 ST8SIA4 Synonymous SNV T117T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.952 126694 chr19 2413788 2413788 G A rs147023760 TMPRSS9 Nonsynonymous SNV A415T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 17.44 126695 chr19 2425184 2425184 A G rs184330957 TMPRSS9 Nonsynonymous SNV I934V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.89 126696 chr6 11213538 11213538 G T NEDD9 Synonymous SNV T145T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.685 126697 chr6 112454030 112454030 G T LAMA4 Nonsynonymous SNV F1253L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 126698 chr6 160978544 160978544 G A rs780910847 LPA Nonsynonymous SNV T1564I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.7 126699 chr6 16141825 16141825 A G rs34444721 MIR4639 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 9.145 126700 chr19 3179051 3179051 C T rs144002553 S1PR4 Synonymous SNV N87N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.079 126701 chr7 43484269 43484269 G A HECW1 Nonsynonymous SNV E500K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 126702 chr3 160232954 160232954 - T rs550264463 SCARNA7 0 0 0.007 0 0 0 0 2 0 0 0 0 126703 chr4 2641539 2641539 G A rs145569971 FAM193A Synonymous SNV S81S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.64 126704 chr19 3751447 3751447 G A rs369996777 APBA3 Synonymous SNV C500C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.53 126705 chr4 2958404 2958404 C T rs140551802 NOP14 Synonymous SNV T155T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.8 126706 chr6 169008864 169008864 G A rs137949063 SMOC2 Synonymous SNV T284T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 126707 chr6 56507562 56507562 G A rs75671065 DST Nonsynonymous SNV R9C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 126708 chr7 45122054 45122054 G T NACAD Nonsynonymous SNV P1242Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 126709 chr6 128176318 128176318 A G rs148069630 THEMIS Star tloss M36T 0.003 0.005 0.003 12 4 2 0.031 1 0 0 0 0 Benign 22.4 126710 chr3 17202646 17202646 C T rs149948648 TBC1D5 Nonsynonymous SNV G597S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.4 126711 chr19 4511622 4511622 C T rs62115187 PLIN4 Nonsynonymous SNV G784S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 22 126712 chr5 121356304 121356304 C T rs142010868 SRFBP1 Nonsynonymous SNV R292W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 126713 chr6 129513952 129513952 C T rs769998511 LAMA2 Nonsynonymous SNV P579L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 126714 chr19 4852218 4852218 C T rs377546619 PLIN3 Synonymous SNV S148S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 126715 chr5 127645679 127645679 G A FBN2 Synonymous SNV C1732C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.59 126716 chr19 6306747 6306747 C T rs144461069 ACER1 Nonsynonymous SNV R258Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.197 126717 chr3 184005736 184005736 G A ECE2, EEF1AKMT4-ECE2 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 126718 chr5 133479316 133479316 C G rs149469800 TCF7 Nonsynonymous SNV Q214E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.8 126719 chr5 133655067 133655067 C T rs373913998 CDKL3 Synonymous SNV L69L 0.004 0 0 0 5 0 0 0 0 0 0 0 15.1 126720 chr6 144093533 144093533 C T PHACTR2 Synonymous SNV D377D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.827 126721 chr3 186917216 186917216 C A rs151101071 LOC101929106 0.003 0 0.014 1 3 0 0.003 4 0 0 1 0 6.884 126722 chr6 75833783 75833783 C T rs151324784 COL12A1 Nonsynonymous SNV R1087H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 126723 chr6 76564953 76564953 A G rs2273857 MYO6 Synonymous SNV T392T 0.004 0.003 0.01 7 5 1 0.018 3 0 0 0 0 Benign/Likely benign 8.24 126724 chr3 193855556 193855556 C T HES1 Nonsynonymous SNV S126F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 126725 chr19 8136955 8136955 G A rs369315242 FBN3 Nonsynonymous SNV R2689C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.6 126726 chr7 6461424 6461424 C T rs836515 DAGLB Synonymous SNV T255T 0.007 0.016 0.014 2 8 6 0.005 4 0 0 0 0 13.95 126727 chr6 90572094 90572094 C T rs749577112 CASP8AP2 Synonymous SNV C222C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 126728 chr3 195517942 195517942 G A MUC4 Nonsynonymous SNV S170L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.328 126729 chr19 8455462 8455462 C T rs936057730 RAB11B-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.806 126730 chr6 158094080 158094080 G A rs779046274 ZDHHC14 Nonsynonymous SNV V465M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.26 126731 chr7 7484086 7484086 G A rs79817423 COL28A1 Nonsynonymous SNV P515L 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 32 126732 chr3 197562545 197562545 T G LRCH3 Nonsynonymous SNV V368G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.066 126733 chr6 159457833 159457833 G A rs748117200 TAGAP Nonsynonymous SNV R345W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 126734 chr7 75659753 75659753 T C rs145942606 STYXL1 Nonsynonymous SNV Y30C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.7 126735 chr3 21448176 21448178 AAA - rs754963384 VENTXP7 0 0 0.037 0 0 0 0 11 0 0 3 0 126736 chr4 70455211 70455211 G T rs144056072 UGT2A1, UGT2A2 Nonsynonymous SNV S453Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.8 126737 chr3 28368337 28368339 GTT - rs753332833 AZI2 T251del 0 0 0.003 0 0 0 0 1 0 0 0 0 126738 chr5 140782981 140782981 T C rs373392812 PCDHGA9 Synonymous SNV L154L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 126739 chr3 3084001 3084001 C G rs202144371 CNTN4 Synonymous SNV T473T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 126740 chr6 160480128 160480128 A C rs199697619 IGF2R Nonsynonymous SNV K1030T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 126741 chr7 81332065 81332065 A G rs367800414 HGF Synonymous SNV Y673Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.234 126742 chr3 33194504 33194504 G T rs199872747 SUSD5 Nonsynonymous SNV D540E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.369 126743 chr5 141033719 141033719 C T rs147992246 ARAP3 Nonsynonymous SNV R1478Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.194 126744 chr4 79334123 79334123 G C FRAS1 Nonsynonymous SNV V1437L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21 126745 chr5 147653927 147653927 G T rs201253316 SPINK13 Nonsynonymous SNV D30Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23 126746 chr3 42947928 42947928 C G rs147064390 ZNF662 Nonsynonymous SNV R29G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.38 126747 chr5 149216142 149216142 G A rs45617032 PPARGC1B Synonymous SNV V669V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.196 126748 chr7 99699580 99699580 C G rs757747386 AP4M1 Nonsynonymous SNV P46A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 28.1 126749 chr6 43316294 43316294 C T rs148632658 ZNF318 Nonsynonymous SNV R947Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 126750 chr6 44147899 44147899 T C CAPN11 Nonsynonymous SNV W547R 0 0 0 2 0 0 0.005 0 0 0 0 0 23 126751 chr5 149784696 149784696 C T rs368808038 CD74 Synonymous SNV P142P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 126752 chr6 47847523 47847523 T C PTCHD4 Nonsynonymous SNV M353V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.63 126753 chr3 46434319 46434319 G A rs34953706 CCR5AS 0 0 0.027 0 0 0 0 8 0 0 2 0 1.693 126754 chr8 104412688 104412688 T C rs141856398 SLC25A32 Nonsynonymous SNV Y300C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 28.7 126755 chr7 100679548 100679548 A G rs139989768 MUC17 Synonymous SNV E1617E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.196 126756 chr3 46853947 46853947 C A PRSS44P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.997 126757 chr6 27277268 27277268 G A POM121L2 Synonymous SNV F894F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 126758 chr8 10470214 10470214 G A rs772280379 RP1L1 Nonsynonymous SNV S465L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 24.1 126759 chr6 51748003 51748003 C T rs772219802 PKHD1 Nonsynonymous SNV R2413H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.61 126760 chr5 150924340 150924340 G A rs77938019 FAT2 Synonymous SNV F2116F 0.006 0.008 0.014 0 7 3 0 4 0 0 0 0 5.263 126761 chr8 10755531 10755531 G A rs146361716 XKR6 Synonymous SNV T619T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.146 126762 chr6 52268076 52268076 T G PAQR8 Nonsynonymous SNV L22R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 126763 chr8 110255431 110255431 T C rs762511873 NUDCD1 Nonsynonymous SNV Y491C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 126764 chr8 110587426 110587426 T G rs201669581 SYBU Nonsynonymous SNV E437D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.001 126765 chr19 10678072 10678072 C T rs577358923 CDKN2D Nonsynonymous SNV A55T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.862 126766 chr6 53516869 53516869 C A rs61745239 KLHL31 Nonsynonymous SNV A478S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.5 126767 chr3 48506389 48506389 A T rs142995259 ATRIP Nonsynonymous SNV M712L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.022 126768 chr3 48508851 48508851 A G rs55999987 TREX1 Nonsynonymous SNV E256G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.046 126769 chr8 11666071 11666071 G C rs181750463 FDFT1 Nonsynonymous SNV K15N 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 16.12 126770 chr3 48677585 48677585 C T rs748978078 CELSR3 Nonsynonymous SNV D3145N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 126771 chr6 54173613 54173614 AG - rs533842810 TINAG E90Kfs*3 0.004 0.003 0 0 5 1 0 0 0 0 0 0 126772 chr5 156655336 156655336 G T rs775005554 ITK Synonymous SNV L226L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.87 126773 chr3 49308804 49308804 C T rs150162031 C3orf62 Nonsynonymous SNV G205S 0.008 0.005 0.014 4 9 2 0.01 4 0 0 0 0 8.915 126774 chr7 107214230 107214230 C T DUS4L, DUS4L-BCAP29 Nonsynonymous SNV A107V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 126775 chr6 55198727 55198727 T G rs140172931 GFRAL Nonsynonymous SNV C101G 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 23.3 126776 chr19 11343895 11343895 C T rs757970053 DOCK6 Nonsynonymous SNV R901H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24 126777 chr3 49548225 49548225 G C rs145403829 DAG1 Nonsynonymous SNV L86F 0.008 0.005 0.014 4 9 2 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 8.797 126778 chr19 11460637 11460637 G A rs199708289 CCDC159 Nonsynonymous SNV D27N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 126779 chr3 50005373 50005373 C T rs142246877 RBM6 Nonsynonymous SNV P172L 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 23.2 126780 chr3 50005855 50005855 G A rs143972186 RBM6 Nonsynonymous SNV E333K 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 26 126781 chr19 12384829 12384829 C A rs192985378 ZNF44 Stop gain G49X 0 0.003 0 0 0 1 0 0 0 0 0 0 32 126782 chr7 1097637 1097637 G A rs142160836 GPR146 Synonymous SNV S162S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.183 126783 chr5 16671591 16671591 G A rs56249185 MYO10 Synonymous SNV C1790C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.99 126784 chr7 11513985 11513985 T C rs766809152 THSD7A Nonsynonymous SNV N743S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.94 126785 chr8 133099920 133099920 C T HHLA1 Nonsynonymous SNV S219N 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 126786 chr6 36442764 36442764 C T rs146111204 KCTD20 Nonsynonymous SNV T120M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 34 126787 chr7 12428758 12428758 G C rs199964998 VWDE Nonsynonymous SNV A157G 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 29.7 126788 chr5 176002580 176002580 C T rs144549731 CDHR2 Nonsynonymous SNV S281F 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 25.8 126789 chr6 79595096 79595096 C T rs148053167 IRAK1BP1 Nonsynonymous SNV A106V 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 22.3 126790 chr7 122338340 122338340 A G rs746672818 RNF133 Synonymous SNV H211H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 126791 chr3 57542407 57542407 A G rs139532703 PDE12 Nonsynonymous SNV N101D 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.001 126792 chr7 131883304 131883304 T C rs372345888 PLXNA4 Nonsynonymous SNV H893R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.426 126793 chr7 131925825 131925825 G A rs747166124 PLXNA4 Nonsynonymous SNV T535I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 126794 chr6 87726049 87726049 G A rs980107315 HTR1E Nonsynonymous SNV G333S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 126795 chr3 62278352 62278352 T G rs147910872 PTPRG-AS1 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 8.523 126796 chr7 123516924 123516924 C T rs150954859 HYAL4 Synonymous SNV C387C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.723 126797 chr19 16646370 16646370 C T rs775337450 CHERP Nonsynonymous SNV A93T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.53 126798 chr5 178392866 178392866 G A rs13187000 ZNF454 Synonymous SNV Q487Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.639 126799 chr6 89871566 89871566 A C rs781253428 PM20D2 Synonymous SNV G371G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.717 126800 chr7 127014578 127014578 T C rs139995125 ZNF800 Nonsynonymous SNV N271S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 126801 chr8 144406269 144406269 C T rs774942791 TOP1MT Nonsynonymous SNV R189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 126802 chr6 43304933 43304933 G A rs765901893 ZNF318 Nonsynonymous SNV A2268V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 126803 chr6 43480503 43480503 C T rs149789583 YIPF3 Nonsynonymous SNV R259H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 126804 chr7 138603414 138603414 C T rs61978615 KIAA1549 Nonsynonymous SNV D320N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.2 126805 chr19 17439204 17439204 C G ANO8 Nonsynonymous SNV G665R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.6 126806 chr7 138916654 138916654 G T rs117922287 UBN2 Nonsynonymous SNV V142L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.5 126807 chr5 180651497 180651497 C T rs112372284 TRIM41 Synonymous SNV D166D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 126808 chr8 144789247 144789247 C T rs550230095 CCDC166 Nonsynonymous SNV V313M 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 12.29 126809 chr7 139225215 139225215 T C rs112553913 CLEC2L Synonymous SNV I113I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.576 126810 chr7 130356576 130356576 C T rs117334000 TSGA13 Nonsynonymous SNV A195T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.15 126811 chr7 140171689 140171689 C A rs142266018 MKRN1 Nonsynonymous SNV R103L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 126812 chr7 133041215 133041215 A G rs147214615 EXOC4 Nonsynonymous SNV I299V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 126813 chr7 100161566 100161566 G A rs202196646 AGFG2 Synonymous SNV P427P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.795 126814 chr7 100187900 100187900 G C rs757283824 FBXO24 Nonsynonymous SNV R69P 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 126815 chr5 140256807 140256807 T A rs199811254 PCDHA12 Nonsynonymous SNV S584T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.282 126816 chr7 138265391 138265391 A G rs143547161 TRIM24 Synonymous SNV E856E 0.009 0.008 0.007 3 11 3 0.008 2 0 0 0 0 6.582 126817 chr4 103947631 103947631 T C rs200322998 SLC9B2 Nonsynonymous SNV N401S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.572 126818 chr7 138601997 138601997 G A rs766458275 KIAA1549 Nonsynonymous SNV T792I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.891 126819 chr5 37153914 37153914 T C CPLANE1 Synonymous SNV A2713A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.758 126820 chr19 22270816 22270816 G A ZNF257 Synonymous SNV E12E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.195 126821 chr19 22270818 22270818 G A rs371850119 ZNF257 Nonsynonymous SNV R13Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.005 126822 chr19 22270824 22270824 T G ZNF257 Nonsynonymous SNV I15R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.18 126823 chr19 22270830 22270830 A G ZNF257 Nonsynonymous SNV Y17C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.204 126824 chr19 22270833 22270833 T A ZNF257 Nonsynonymous SNV F18Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.008 126825 chr6 71234902 71234902 T A FAM135A Synonymous SNV S476S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.777 126826 chr6 71289221 71289221 C T rs34711085 SDHAF4 Nonsynonymous SNV R57C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 126827 chr7 100551313 100551313 G A rs746698532 MUC3A Nonsynonymous SNV A632T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 126828 chr5 149453003 149453003 C T rs756763314 CSF1R Nonsynonymous SNV V315M 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 22.6 126829 chr19 23542890 23542890 T C rs184351878 ZNF91 Nonsynonymous SNV K932R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.82 126830 chr5 54410115 54410115 C A CDC20B Nonsynonymous SNV L455F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 126831 chr6 73951294 73951294 C T rs371388591 KHDC1 Synonymous SNV V151V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.473 126832 chr6 7395376 7395376 G A rs369600325 RIOK1 Nonsynonymous SNV D19N 0.002 0 0 0 2 0 0 0 0 0 0 0 23 126833 chr4 122686957 122686957 A G rs9993206 PP12613 0 0 0.085 0 0 0 0 25 0 0 9 0 2.708 126834 chr4 123336701 123336701 A G rs536443961 ADAD1 Nonsynonymous SNV S462G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 126835 chr6 74161855 74161855 G C rs147035222 CGAS Nonsynonymous SNV A17G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 2.504 126836 chr5 57790785 57790785 C T rs200092019 GAPT Nonsynonymous SNV P141L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 10.9 126837 chr19 34262952 34262952 C T rs183634129 CHST8 Nonsynonymous SNV R87C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.22 126838 chr5 64875402 64875402 A G rs147425015 PPWD1 Nonsynonymous SNV I282V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.936 126839 chr6 80749551 80749551 C T rs200382179 TTK Nonsynonymous SNV P756S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 126840 chr19 1036200 1036200 C T rs753959477 CNN2 Synonymous SNV F143F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.61 126841 chr6 84303230 84303230 T C rs41271579 SNAP91 Nonsynonymous SNV T436A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.031 126842 chr7 100694952 100694952 C T rs145093871 MUC17 Synonymous SNV Y4311Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.372 126843 chr7 193386 193386 G A rs900977458 FAM20C Nonsynonymous SNV V63I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.987 126844 chr19 36231371 36231371 G A rs151173675 IGFLR1 Synonymous SNV D84D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.83 126845 chr4 141564226 141564226 A G rs116043551 TNRC18P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.018 126846 chr7 105029116 105029116 T G SRPK2 Nonsynonymous SNV K54T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 126847 chr5 73181921 73181921 G A rs202062593 ARHGEF28 Nonsynonymous SNV R788H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 126848 chr7 106829850 106829850 C T rs41276184 HBP1 Synonymous SNV T303T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 16.96 126849 chr19 1529418 1529418 C T rs138626853 PLK5 Nonsynonymous SNV A140V 0.002 0.008 0.007 3 2 3 0.008 2 0 0 0 0 7.626 126850 chr19 1785550 1785550 G A rs201106863 ATP8B3 Nonsynonymous SNV T1067M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.206 126851 chr7 23224734 23224734 A G rs150791680 NUP42 Nonsynonymous SNV N56S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.004 126852 chr5 167517677 167517677 C T rs147074209 TENM2 Synonymous SNV A306A 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 19.51 126853 chr7 111487098 111487098 C T rs2074130 DOCK4 Nonsynonymous SNV R853H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.6 126854 chr19 2853562 2853562 G A rs750804084 ZNF555 Nonsynonymous SNV R499K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.5 126855 chr7 100320449 100320449 C T rs369003114 EPO Nonsynonymous SNV R137W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 126856 chr5 171523444 171523444 C T rs751783821 STK10 Nonsynonymous SNV V331M 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 8.02 126857 chr7 29535580 29535580 C T rs184836520 CHN2 Stop gain R87X 0.001 0 0 0 1 0 0 0 0 0 0 0 51 126858 chr7 16298572 16298572 A G rs376909665 CRPPA Synonymous SNV D283D 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.53 126859 chr8 41529924 41529924 G A ANK1 Stop gain R1682X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 126860 chr8 42761366 42761366 G A rs765464370 HOOK3 Synonymous SNV T36T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 126861 chr19 38230581 38230581 G A rs80333275 ZNF573 Synonymous SNV G182G 0.007 0.013 0.01 6 8 5 0.015 3 0 0 1 0 11.85 126862 chr7 127999459 127999459 G A rs145413607 PRRT4 Nonsynonymous SNV T196M 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 14.83 126863 chr7 23300255 23300255 C T rs35499907 GPNMB Nonsynonymous SNV S294F 0.004 0 0 0 5 0 0 0 0 0 0 0 28 126864 chr8 66631607 66631607 C T rs28515659 PDE7A Nonsynonymous SNV R456K 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 12 126865 chr5 96139426 96139426 A G rs73148308 ERAP1 Synonymous SNV H68H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.711 126866 chr8 67089662 67089662 C G rs72556398 CRH Synonymous SNV L17L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.47 126867 chr19 39994735 39994735 C G rs145191532 DLL3 Nonsynonymous SNV P226R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 11.45 126868 chr8 68163684 68163684 A G rs1019999701 ARFGEF1 Synonymous SNV N900N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 126869 chr6 105526501 105526501 A G rs118000887 LIN28B Nonsynonymous SNV H199R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.009 126870 chr7 134878383 134878383 G A rs767334585 WDR91 Synonymous SNV D479D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.801 126871 chr7 135418928 135418928 C T rs201676142 FAM180A Nonsynonymous SNV R106Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 126872 chr4 187111961 187111961 C A FLJ38576 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 126873 chr8 81399048 81399050 GTC - rs144692080 ZBTB10 S2del 0.013 0.008 0 5 15 3 0.013 0 1 0 0 0 126874 chr19 6426482 6426482 G A SLC25A41 Nonsynonymous SNV T344I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24 126875 chr4 187584587 187584587 A G rs77280820 FAT1 Nonsynonymous SNV M1149T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 10.06 126876 chr7 138665842 138665842 G A rs968580758 KIAA1549 Synonymous SNV A58A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.062 126877 chr7 138329571 138329571 C T rs144481050 SVOPL Nonsynonymous SNV R75Q 0.006 0.016 0 6 7 6 0.015 0 0 0 0 0 34 126878 chr8 8749981 8749981 G A rs377473219 MFHAS1 Synonymous SNV F196F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 126879 chr7 138603171 138603171 C T rs151118504 KIAA1549 Nonsynonymous SNV G401S 0.006 0.013 0 5 7 5 0.013 0 0 0 0 0 0.006 126880 chr8 9413875 9413875 T C rs33985989 TNKS Synonymous SNV S142S 0.026 0.016 0.01 6 30 6 0.015 3 0 0 0 0 12.65 126881 chr8 99168616 99168616 C G rs750402989 POP1 Nonsynonymous SNV T799R 0.003 0 0 0 3 0 0 0 0 0 0 0 1.631 126882 chr7 100818010 100818010 G C rs767662024 NAT16 Nonsynonymous SNV P27A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 126883 chr4 3451075 3451075 C T rs755274674 HGFAC Nonsynonymous SNV R633C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 126884 chr19 7607806 7607806 C G rs777484615 PNPLA6 Nonsynonymous SNV R508G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.2 126885 chr7 104782689 104782689 T G rs55743527 SRPK2 Nonsynonymous SNV T426P 0.001 0.003 0.01 4 1 1 0.01 3 0 0 0 0 22.9 126886 chr7 105254963 105254963 C T rs372550471 ATXN7L1 Synonymous SNV P482P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 13.89 126887 chr7 44807172 44807172 C T rs939040987 ZMIZ2 Nonsynonymous SNV L879F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.5 126888 chr7 106509419 106509419 C T PIK3CG Synonymous SNV H471H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.315 126889 chr7 143141092 143141092 G A rs767812355 TAS2R60 Nonsynonymous SNV D183N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.39 126890 chr9 101552590 101552590 C T rs200419394 ANKS6 Nonsynonymous SNV A220T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.187 126891 chr7 107258940 107258940 A G rs543693748 BCAP29, DUS4L-BCAP29 Nonsynonymous SNV I253V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.643 126892 chr9 102590955 102590955 C T NR4A3 Nonsynonymous SNV L211F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 126893 chr7 113518157 113518157 A C rs35572169 PPP1R3A Nonsynonymous SNV F997C 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 Likely benign 17 126894 chr7 113518355 113518355 G T rs35449651 PPP1R3A Nonsynonymous SNV A931E 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 Likely benign 0.003 126895 chr7 6075744 6075744 G A rs947116446 ANKRD61 Synonymous SNV T328T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.478 126896 chr4 39481983 39481983 C G rs184789311 LOC401127 0 0 0.007 0 0 0 0 2 0 0 0 0 3.621 126897 chr5 42719260 42719260 A G rs764019193 GHR Nonsynonymous SNV K529E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 126898 chr4 40044678 40044678 C T rs4385074 LOC344967 0 0 0.024 0 0 0 0 7 0 0 1 0 4.576 126899 chr7 47968953 47968953 C T rs145088541 PKD1L1 Nonsynonymous SNV R303Q 0.013 0.005 0.02 3 15 2 0.008 6 0 0 0 0 Benign 0.022 126900 chr5 43508761 43508761 A G rs147130364 C5orf34 Nonsynonymous SNV L68P 0.003 0.003 0 0 3 1 0 0 1 0 0 0 26.9 126901 chr19 45579026 45579026 G T rs150507215 ZNF296 Nonsynonymous SNV D131E 0.001 0.01 0.003 4 1 4 0.01 1 0 0 0 0 13.88 126902 chr4 41015884 41015884 C T rs201866389 APBB2 Nonsynonymous SNV G184E 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 0.002 126903 chr7 73151400 73151400 T C rs201844573 ABHD11 Nonsynonymous SNV E168G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 126904 chr6 136913666 136913666 - GTC rs538891276 MAP3K5 D988_T989insD 0.004 0.008 0 0 5 3 0 0 0 0 0 0 126905 chr6 138754081 138754081 G A rs138697859 NHSL1 Synonymous SNV P471P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.177 126906 chr4 47901490 47901490 A C NFXL1 Nonsynonymous SNV D241E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 126907 chr9 113197639 113197639 C T rs771608863 SVEP1 Synonymous SNV K1590K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.91 126908 chr7 151860595 151860595 G A rs768610423 KMT2C Nonsynonymous SNV A3356V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.891 126909 chr7 75615306 75615306 C T rs868927799 POR Nonsynonymous SNV R579W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 126910 chr4 48854139 48854139 T C rs2572345 OCIAD1-AS1 0 0 0.027 0 0 0 0 8 0 0 4 0 11.84 126911 chr6 146056472 146056472 G T rs187930476 EPM2A Nonsynonymous SNV Q55K 0.011 0.003 0.003 8 13 1 0.021 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.65 126912 chr7 129815355 129815355 A G rs149486512 TMEM209 Synonymous SNV S405S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.12 126913 chr5 66405955 66405955 G A rs375943354 MAST4 Synonymous SNV L268L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.14 126914 chr7 6204605 6204605 C T rs745761213 CYTH3 Synonymous SNV T223T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 126915 chr19 48734262 48734262 C A rs150982505 CARD8 Nonsynonymous SNV V132F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13 126916 chr7 87190677 87190677 T C rs2235022 ABCB1 Synonymous SNV E243E 0.008 0.008 0.003 3 9 3 0.008 1 0 0 0 0 Benign 9.299 126917 chr7 158439202 158439202 T C NCAPG2 Synonymous SNV P1043P 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 2.896 126918 chr6 152712669 152712669 G T SYNE1 Nonsynonymous SNV L2590I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 126919 chr7 73254451 73254451 - TG rs782135880 METTL27 0.001 0.01 0 2 1 4 0.005 0 0 1 0 0 126920 chr6 15496980 15496980 G A rs372588522 JARID2 Synonymous SNV T336T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 126921 chr7 75583397 75583397 G A rs41295381 POR Synonymous SNV T29T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.71 126922 chr6 158924661 158924661 C T rs41266335 TULP4 Synonymous SNV T1322T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Likely benign 11.64 126923 chr7 7629043 7629043 G C MIOS Nonsynonymous SNV R631T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 126924 chr19 50001283 50001283 A T rs739346 RPS11 Synonymous SNV V111V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 4.51 126925 chr7 142573613 142573613 C T rs79832568 TRPV6 Synonymous SNV T309T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.455 126926 chr7 142880736 142880736 C T rs188839863 TAS2R39 Synonymous SNV I75I 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 16.44 126927 chr7 143013391 143013391 A C rs146160029 CLCN1 Nonsynonymous SNV H29P 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 Benign/Likely benign 23.8 126928 chr7 97822361 97822361 G A rs34005293 LMTK2 Nonsynonymous SNV A862T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.009 126929 chr7 99219180 99219180 G A rs377391758 ZSCAN25 Nonsynonymous SNV R191Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.805 126930 chr6 160468281 160468281 C G rs760410210 IGF2R Synonymous SNV P714P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.98 126931 chr8 100443885 100443885 C T rs61753722 VPS13B Nonsynonymous SNV T1068I 0.006 0.005 0.01 8 7 2 0.021 3 0 0 0 0 Benign/Likely benign 24.2 126932 chr6 161653212 161653212 G A rs9458161 AGPAT4 Synonymous SNV L12L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 10.98 126933 chr9 129851243 129851243 C T rs553905166 ANGPTL2 Nonsynonymous SNV R486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 126934 chr19 51633283 51633283 C T rs141580830 SIGLEC9 Nonsynonymous SNV R447W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.219 126935 chr4 79428622 79428622 C T rs200346497 FRAS1 Nonsynonymous SNV R3122W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 126936 chr4 81123603 81123603 G T rs6831357 PRDM8 Synonymous SNV L329L 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Benign 0.012 126937 chr6 168273049 168273049 G A rs146844232 AFDN Synonymous SNV G190G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 126938 chr6 169641906 169641906 G A rs145188187 THBS2 Nonsynonymous SNV S281L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 126939 chr6 170102290 170102290 G A C6orf120 Nonsynonymous SNV G11D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 126940 chr7 44259725 44259725 C T rs769822221 CAMK2B Nonsynonymous SNV R429H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26.5 126941 chr9 133914269 133914269 G A rs149861552 LAMC3 Nonsynonymous SNV R332H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.4 126942 chr6 24836030 24836030 C T RIPOR2 Synonymous SNV G703G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 126943 chr6 25471459 25471459 G A rs768944535 CARMIL1 Synonymous SNV L251L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 126944 chr4 88536014 88536031 AGCAGTGACAGCAGCAAC - rs751587122 DSPP N739_S744del 0 0 0.003 0 0 0 0 1 0 0 0 0 126945 chr4 88537108 88537108 T C rs531156875 DSPP Synonymous SNV D1098D 0 0 0.037 0 0 0 0 11 0 0 5 0 0.009 126946 chr4 88537123 88537123 C T rs372453629 DSPP Synonymous SNV S1103S 0 0 0.014 0 0 0 0 4 0 0 2 0 11.25 126947 chr7 48018103 48018103 G A rs567292691 HUS1 Stop gain R69X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 126948 chr6 26123956 26123956 G A HIST1H2BC Synonymous SNV A59A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.338 126949 chr4 88760845 88760845 C G rs760431970 MEPE Stop gain Y39X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.36 126950 chr6 106808933 106808933 C G rs1014691749 CRYBG1 Synonymous SNV L50L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.282 126951 chr4 941630 941630 C T rs542936413 TMEM175 Nonsynonymous SNV R35C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 126952 chr6 108068064 108068064 C T rs143639662 SCML4 Nonsynonymous SNV A48T 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 6.832 126953 chr4 99273704 99273704 G A rs61758810 RAP1GDS1 Nonsynonymous SNV V106M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.84 126954 chr9 136282926 136282926 C T rs367819874 REXO4 Synonymous SNV P13P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.4 126955 chr6 3227763 3227763 C G TUBB2B Synonymous SNV V5V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 126956 chr6 34496442 34496442 C T rs752269353 PACSIN1 Nonsynonymous SNV R82W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 126957 chr5 1064015 1064015 G A rs202173375 SLC12A7 Synonymous SNV L895L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.777 126958 chr6 34827086 34827086 G A rs200234457 UHRF1BP1 Nonsynonymous SNV A985T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.484 126959 chr5 1078832 1078832 C T rs151053159 SLC12A7 Nonsynonymous SNV V480M 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 24.5 126960 chr6 114379122 114379122 G A rs144094472 HS3ST5 Nonsynonymous SNV P114S 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 24.5 126961 chr6 114379183 114379183 G C rs144413801 HS3ST5 Synonymous SNV A93A 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.44 126962 chr9 138714947 138714947 C T rs139496287 CAMSAP1 Synonymous SNV T520T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.8 126963 chr6 116691023 116691023 A T rs190705884 LOC100287467 0 0.005 0 0 0 2 0 0 0 0 0 0 5.228 126964 chr6 36689830 36689830 C T rs866506932 RAB44 Nonsynonymous SNV A640V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.407 126965 chr8 142228628 142228628 C T rs148433179 SLC45A4 Nonsynonymous SNV E320K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 126966 chr6 36887424 36887424 A G rs929770782 C6orf89 Nonsynonymous SNV Q306R 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 19.25 126967 chr9 139257980 139257997 GCCCCAGAGCCGCCGCGG - rs751279549 DNLZ P57_G62del 0.002 0 0 0 2 0 0 0 0 0 0 0 126968 chr5 121413666 121413666 C G LOX Nonsynonymous SNV W5C 0 0 0.003 0 0 0 0 1 0 0 0 0 22 126969 chr8 143569777 143569777 C G ADGRB1 Synonymous SNV P787P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 126970 chr8 134114798 134114798 G A rs186646388 SLA Nonsynonymous SNV R4W 0.009 0.008 0.003 1 10 3 0.003 1 0 0 0 0 23.5 126971 chr6 397137 397137 C T rs375726389 IRF4 Synonymous SNV L173L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 126972 chr9 139393658 139393658 C T rs186453356 NOTCH1 Synonymous SNV T1996T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.99 126973 chr7 34851409 34851409 G A rs376690361 NPSR1 Nonsynonymous SNV V127I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 126974 chr9 139693635 139693635 A C rs752316443 CCDC183 Nonsynonymous SNV N51T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.1 126975 chr8 144406278 144406278 C T TOP1MT Nonsynonymous SNV R186Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 126976 chr7 40228113 40228113 A G rs769359903 SUGCT Synonymous SNV R89R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.263 126977 chr7 42007446 42007446 C T rs121917710 GLI3 Nonsynonymous SNV G727R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 126978 chr6 42633191 42633191 G C rs144580439 UBR2 Nonsynonymous SNV R1248T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 126979 chr8 144802456 144802456 C T rs35925379 MAPK15 Nonsynonymous SNV R260W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.3 126980 chr8 144803518 144803518 A C rs56241827 MAPK15 Nonsynonymous SNV T381P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.006 126981 chr6 44144381 44144381 C T rs370482641 CAPN11 Synonymous SNV D355D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 126982 chr9 14116327 14116327 C G rs72698746 NFIB Nonsynonymous SNV V170L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.4 126983 chr9 15920386 15920386 C T rs772167200 CCDC171 Nonsynonymous SNV T1248I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 126984 chr6 139094634 139094634 - T rs368114032 GVQW2 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 126985 chr8 144998857 144998857 G A rs782103588 PLEC Nonsynonymous SNV T1733M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.91 126986 chr5 140166686 140166686 G C rs115085380 PCDHA1 Nonsynonymous SNV E271Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 126987 chr9 2084122 2084122 C T rs886063776 SMARCA2 Synonymous SNV L818L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 14.36 126988 chr8 144889739 144889739 G A rs782621145 SCRIB Nonsynonymous SNV R721C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 126989 chr19 57956715 57956715 C G rs144642117 ZNF749 Nonsynonymous SNV F646L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 16.67 126990 chr5 140530777 140530777 T C rs141585843 PCDHB6 Synonymous SNV Y313Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 126991 chr5 140536037 140536037 C T rs78564056 PCDHB17P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 126992 chr5 140620291 140620291 G A rs77176780 PCDHB19P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.88 126993 chr6 49928070 49928070 T C rs369941150 DEFB114 Nonsynonymous SNV I49V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 126994 chr8 145698231 145698231 G T KIFC2 Nonsynonymous SNV A639S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 126995 chr6 150387034 150387034 C T rs772589638 ULBP3 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 9.579 126996 chr7 99030915 99030915 T C rs751988192 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV N194D 0 0 0 2 0 0 0.005 0 0 0 0 0 5.109 126997 chr7 99160117 99160117 G C rs201274392 ZNF655 Nonsynonymous SNV G117R 0 0 0 2 0 0 0.005 0 0 0 0 0 19.54 126998 chr7 97823411 97823411 G A rs754279487 LMTK2 Nonsynonymous SNV G1212S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.46 126999 chr8 100821659 100821659 T C rs199941415 VPS13B Synonymous SNV S2691S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign/Likely benign 0.146 127000 chr7 98554138 98554138 C G rs140869162 TRRAP Synonymous SNV A2046A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.33 127001 chr6 152485345 152485345 C T rs76699382 SYNE1 Nonsynonymous SNV D70N 0.009 0.005 0 10 11 2 0.026 0 0 0 0 0 Benign 23.5 127002 chr8 101601148 101601148 T C rs144447406 SNX31 Synonymous SNV R247R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.151 127003 chr6 54254708 54254708 T C rs35449496 TINAG Synonymous SNV S472S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 4.759 127004 chr9 35662209 35662209 G A rs757218113 ARHGEF39 Nonsynonymous SNV S320L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.56 127005 chr20 1426315 1426315 G C NSFL1C Nonsynonymous SNV H285D 0 0.003 0 0 0 1 0 0 0 0 0 0 31 127006 chr8 103327018 103327018 C T rs375257842 UBR5 Synonymous SNV T616T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.22 127007 chr7 64004097 64004097 C G rs112490324 ZNF680 Nonsynonymous SNV A81P 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 22.8 127008 chr6 56917508 56917508 C T rs61741654 KIAA1586 Stop gain R44X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 127009 chr7 64388956 64388956 T - rs752059453 ZNF273 T418Lfs*33 0.002 0 0 0 2 0 0 0 0 0 0 0 127010 chr7 64388959 64388960 CT - rs748776177 ZNF273 T418Kfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 127011 chr9 4117933 4117933 C G rs72687988 GLIS3 Nonsynonymous SNV E360D 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 Likely benign 24.2 127012 chr9 420579 420579 A G rs116920018 DOCK8 Nonsynonymous SNV Y1240C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 127013 chr6 159191889 159191889 C T rs375840157 EZR Nonsynonymous SNV V333M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 127014 chr8 110457592 110457592 C T rs148982821 PKHD1L1 Nonsynonymous SNV P1832S 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 2.092 127015 chr7 73151889 73151889 C T rs10279013 ABHD11 Synonymous SNV V155V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.7 127016 chr5 148420221 148420221 G A rs144963732 SH3TC2 Nonsynonymous SNV P251S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 127017 chr5 149212470 149212470 G A rs137977348 PPARGC1B Synonymous SNV P239P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.558 127018 chr9 6500677 6500677 G A rs542029724 UHRF2 Nonsynonymous SNV D711N 0.001 0 0 0 1 0 0 0 0 0 0 0 27 127019 chr20 3211859 3211859 A G rs374803244 SLC4A11 Synonymous SNV F342F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.271 127020 chr5 149514415 149514415 G A rs142683442 PDGFRB Nonsynonymous SNV R113C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 29.9 127021 chr6 76608128 76608128 G C rs202214380 MYO6 Nonsynonymous SNV R1059T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 127022 chr5 150667007 150667007 C T rs142449284 SLC36A3 Nonsynonymous SNV V170M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 127023 chr6 7727522 7727522 - AGC rs771616962 BMP6 Q118_L119insQ 0.006 0 0.014 2 7 0 0.005 4 0 0 1 0 127024 chr6 80736106 80736106 C G rs139578466 TTK Synonymous SNV T422T 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Likely benign 4.769 127025 chr6 16326712 16326712 G A rs35525606 ATXN1 Synonymous SNV I610I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.696 127026 chr8 124089483 124089483 C G rs61753517 TBC1D31 Nonsynonymous SNV D70E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 127027 chr6 83775382 83775382 T C rs146610333 UBE3D Nonsynonymous SNV Q19R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.88 127028 chr6 16328447 16328447 G C rs150375774 ATXN1 Stop gain Y22X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.075 127029 chr5 151784137 151784137 G T NMUR2 Nonsynonymous SNV P180T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 127030 chr6 168431498 168431498 G A rs34981094 KIF25 Synonymous SNV V46V 0.009 0.016 0.01 2 10 6 0.005 3 0 0 0 0 6.21 127031 chr8 30503034 30503034 G A rs942345199 SMIM18 Nonsynonymous SNV V70M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.21 127032 chr6 90661242 90661242 C T rs143586122 BACH2 Nonsynonymous SNV A195T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.015 127033 chr8 31004638 31004638 G A rs144116311 WRN Synonymous SNV E1151E 0.008 0 0 0 9 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.814 127034 chr5 163184 163184 G T PLEKHG4B Synonymous SNV G999G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.872 127035 chr5 16465370 16465370 G C rs760025248 ZNF622 Synonymous SNV A135A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.219 127036 chr5 16673973 16673973 C G MYO10 Nonsynonymous SNV E1664Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 127037 chr6 99819306 99819306 G A rs146934336 COQ3 Nonsynonymous SNV S296L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 127038 chr7 94024399 94024399 T C COL1A2 Nonsynonymous SNV L19P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 127039 chr8 133913686 133913686 G A rs141519133 TG Synonymous SNV G1174G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 127040 chr8 3855431 3855431 G C CSMD1 Nonsynonymous SNV S271C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.9 127041 chr8 38803642 38803642 T C PLEKHA2 Nonsynonymous SNV V83A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 127042 chr9 96015263 96015263 C T rs373908573 WNK2 Nonsynonymous SNV P645S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 127043 chr7 98634714 98634714 C T rs200012126 SMURF1 Synonymous SNV K595K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.02 127044 chr5 169506103 169506103 G A rs576632273 DOCK2 Nonsynonymous SNV V1707I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 127045 chr7 99631121 99631121 G A rs760334800 ZKSCAN1 Synonymous SNV G118G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 127046 chr8 35648009 35648009 G A rs36097305 UNC5D Synonymous SNV T925T 0.008 0.01 0 6 9 4 0.015 0 0 0 0 0 13.44 127047 chr8 37556092 37556092 G A rs768673046 ZNF703 Nonsynonymous SNV G558D 0.003 0.008 0 0 4 3 0 0 0 0 0 0 24.6 127048 chr8 142161031 142161031 C T rs445616 DENND3 Synonymous SNV F278F 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 11.73 127049 chr8 37690615 37690615 G A rs61738775 ADGRA2 Synonymous SNV P395P 0.009 0.013 0.01 1 10 5 0.003 3 0 0 0 0 6.488 127050 chr6 25917035 25917035 C G rs140811656 SLC17A2 Nonsynonymous SNV V270L 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 0.045 127051 chr6 25917225 25917225 T C rs142363960 SLC17A2 Nonsynonymous SNV E247G 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 26 127052 chrX 101141609 101141609 T C rs149913255 ZMAT1 Synonymous SNV Q200Q 0.001 0 0.01 0 1 0 0 3 0 0 1 0 1.057 127053 chr8 39494782 39494782 G A rs200250840 ADAM18 0.01 0.013 0.003 4 12 5 0.01 1 1 0 0 0 25.3 127054 chr5 177031516 177031516 C T rs200124872 B4GALT7 Synonymous SNV Y129Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 3.918 127055 chr6 26413905 26413905 T C rs142919616 BTN3A1 Synonymous SNV T457T 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 Benign 0.108 127056 chr5 178416348 178416348 G A rs17839804 GRM6 Synonymous SNV F357F 0.013 0.013 0.01 5 15 5 0.013 3 1 0 0 0 10.63 127057 chr8 144398179 144398179 A G rs747709671 TOP1MT Nonsynonymous SNV L385P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 127058 chr6 27806028 27806028 T C rs146995288 H2AC15 Synonymous SNV R30R 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 0.097 127059 chrX 117676706 117676706 G A DOCK11 Nonsynonymous SNV E41K 0.002 0 0 0 2 0 0 0 0 0 0 0 33 127060 chr6 28097495 28097495 G A rs1383394 ZSCAN16 Nonsynonymous SNV A272T 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 20.9 127061 chr5 182254 182254 G T rs116432258 PLEKHG4B Nonsynonymous SNV G1567V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 14.54 127062 chr8 67976663 67976663 A G rs181470846 CSPP1 Synonymous SNV V10V 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 1.809 127063 chr20 37396152 37396152 C T ACTR5 Synonymous SNV L493L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 127064 chr8 11702658 11702658 G A rs759777408 CTSB Synonymous SNV T208T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 127065 chr8 70536327 70536327 A G rs138876060 SULF1 Nonsynonymous SNV K582R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.006 127066 chr8 121015350 121015350 G A rs772667396 DEPTOR Nonsynonymous SNV V208M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 127067 chrX 139586898 139586898 T C rs757086561 SOX3 Nonsynonymous SNV S110G 0.009 0.005 0 0 11 2 0 0 2 1 0 0 0.148 127068 chr8 81888847 81888847 C T rs193072874 PAG1 Nonsynonymous SNV V411I 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 11.1 127069 chr8 125531106 125531106 C T rs149193849 TATDN1 Nonsynonymous SNV G5E 0.006 0 0 1 7 0 0.003 0 0 0 0 0 33 127070 chr20 45204233 45204233 G A rs776497838 SLC13A3 Synonymous SNV F387F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.52 127071 chr9 100672512 100672512 C T rs150271508 TRMO Nonsynonymous SNV V120M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.77 127072 chr9 100881353 100881353 G T rs374436760 TRIM14 Nonsynonymous SNV R40S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 127073 chrX 152613259 152613259 C T rs376449618 ZNF275 Synonymous SNV S372S 0.004 0 0 0 5 0 0 0 1 0 0 0 19.44 127074 chr8 94146665 94146665 T G C8orf87 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.435 127075 chrX 153421858 153421858 C T rs781838044 OPN1LW Synonymous SNV C278C 0.005 0.008 0 2 6 3 0.005 0 2 1 0 1 4.706 127076 chr9 104161453 104161453 C T rs778037073 ZNF189 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 127077 chr8 134057285 134057285 T C rs138156935 SLA Nonsynonymous SNV Y35C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 127078 chr7 100853612 100853612 G A rs148949172 PLOD3 Synonymous SNV V538V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.3 127079 chr9 100071822 100071822 C T rs766512576 CCDC180 Stop gain R110X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 127080 chr9 107298335 107298335 T G rs1025720076 OR13C3 Nonsynonymous SNV T254P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 127081 chr9 107580951 107580951 A G ABCA1 Nonsynonymous SNV L1152P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 127082 chr9 101304186 101304186 G A rs146370047 GABBR2 Nonsynonymous SNV T200M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 127083 chr7 105658381 105658381 C T rs76067797 CDHR3 Nonsynonymous SNV L418F 0.005 0.003 0.017 1 6 1 0.003 5 0 0 0 0 11.73 127084 chr9 110249669 110249669 G A KLF4 Nonsynonymous SNV L336F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 127085 chr9 110249670 110249670 C A KLF4 Synonymous SNV P335P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 127086 chr9 110249675 110249675 G A KLF4 Synonymous SNV L334L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.074 127087 chr8 2050496 2050496 G C MYOM2 Nonsynonymous SNV V887L 0 0.005 0 3 0 2 0.008 0 0 0 0 0 20.2 127088 chr20 57428568 57428568 C T rs780574000 GNAS Nonsynonymous SNV R21W 0 0.003 0 0 0 1 0 0 0 0 0 0 0.695 127089 chr20 58587783 58587783 - A rs370682137 CDH26 X125delinsX 0 0.003 0 0 0 1 0 0 0 0 0 0 127090 chr7 107720172 107720172 A G rs138995900 LAMB4 Synonymous SNV P587P 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Benign 8.345 127091 chr9 109687031 109687031 C A rs778521296 ZNF462 Nonsynonymous SNV Q280K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 127092 chr8 22211863 22211863 G A rs150723884 PIWIL2 Nonsynonymous SNV A913T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 127093 chr8 22777814 22777814 T C PEBP4 Synonymous SNV E47E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.007 127094 chr9 111881841 111881841 G C rs745561645 TMEM245 Nonsynonymous SNV P118R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 127095 chr5 68805347 68805347 A G rs1021937324 OCLN Nonsynonymous SNV M144V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 127096 chr5 68805372 68805372 C T rs142569075 OCLN Nonsynonymous SNV A152V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 17.76 127097 chrX 48681595 48681595 T C rs143030911 HDAC6 Nonsynonymous SNV I929T 0.003 0.005 0.007 1 3 2 0.003 2 0 1 1 0 Likely benign 0.008 127098 chr9 113459721 113459721 C T MUSK Synonymous SNV S201S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 127099 chr8 22412052 22412052 G T SORBS3 Synonymous SNV G11G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.214 127100 chr8 24300038 24300038 T A rs138888383 ADAM7 Synonymous SNV L35L 0.006 0 0.014 5 7 0 0.013 4 0 0 0 0 2.249 127101 chrX 50377872 50377872 G A rs201801889 SHROOM4 Nonsynonymous SNV H401Y 0.001 0.005 0 0 1 2 0 0 0 1 0 0 14.77 127102 chr7 12423161 12423161 C A rs763674164 VWDE 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 127103 chr7 12684263 12684263 T C SCIN Nonsynonymous SNV L358P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 127104 chr9 116791017 116791017 T C rs149965650 ZNF618 Synonymous SNV T251T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 127105 chr9 116060212 116060212 G A rs116993964 RNF183 Nonsynonymous SNV R85C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 25.2 127106 chr7 128586057 128586057 C T rs139688977 IRF5 Synonymous SNV Y118Y 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Likely benign 14.44 127107 chrX 69645627 69645627 G A rs145392379 GDPD2 Nonsynonymous SNV R75H 0.003 0.008 0 0 3 3 0 0 1 1 0 0 11.24 127108 chr8 30703691 30703691 G C rs148956340 TEX15 Nonsynonymous SNV T1331S 0.009 0.008 0.014 5 10 3 0.013 4 0 0 0 0 3.304 127109 chrX 70361116 70361121 CAGCAA - rs764789036 MED12 Q2114_Q2115del 0.003 0.003 0 0 3 1 0 0 1 0 0 0 127110 chr8 145133745 145133745 G T rs143107280 EXOSC4 Synonymous SNV S38S 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 18.23 127111 chr8 145135431 145135431 G A rs142724505 EXOSC4 Nonsynonymous SNV R222Q 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 17.66 127112 chr5 79646895 79646895 G A rs62365916 CRSP8P 0 0 0.007 0 0 0 0 2 0 0 1 0 9.629 127113 chrX 71426020 71426020 T C rs745826258 ERCC6L Nonsynonymous SNV N866S 0.003 0 0 4 3 0 0.01 0 1 0 0 2 0.002 127114 chrX 72667515 72667515 C T CDX4 Synonymous SNV G142G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 127115 chr8 33451091 33451091 C T rs114385466 DUSP26 Synonymous SNV T132T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 13.39 127116 chrX 80373961 80373961 C T rs73231013 HMGN5 Synonymous SNV E33E 0.007 0.018 0.003 13 8 7 0.033 1 0 1 0 4 Benign 5.039 127117 chr5 89757037 89757037 G A rs142941881 MBLAC2 Stop gain R263X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 127118 chr7 135311104 135311104 G A rs766522861 NUP205 Synonymous SNV P1238P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 127119 chr8 145663876 145663876 C T rs141623142 TONSL Nonsynonymous SNV R544H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 127120 chr7 137798502 137798502 T C rs756478701 AKR1D1 Nonsynonymous SNV F267L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 127121 chr5 90024584 90024584 C T rs113938044 ADGRV1 Synonymous SNV F3420F 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.8 127122 chr21 31802759 31802759 T C rs149298552 KRTAP13-4 Nonsynonymous SNV W56R 0.006 0.01 0.014 4 7 4 0.01 4 0 0 0 0 2.062 127123 chr9 125772713 125772713 G A rs78302239 RABGAP1 Synonymous SNV R485R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.66 127124 chr8 37963192 37963192 C T rs367605367 ASH2L Nonsynonymous SNV P42S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.41 127125 chr8 17419529 17419529 C T rs139462829 SLC7A2 Synonymous SNV L527L 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 13.44 127126 chr5 96230990 96230990 T C rs747413276 ERAP2 Nonsynonymous SNV I344T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 127127 chr9 128064416 128064416 T C GAPVD1 Synonymous SNV L114L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 127128 chr6 10439968 10439968 T C rs9295535 MIR5689 0 0 0.054 0 0 0 0 16 0 0 6 0 2.466 127129 chr6 7570698 7570698 G C DSP Nonsynonymous SNV A535P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 27.2 127130 chr6 108250664 108250664 C T rs747897071 SEC63 Nonsynonymous SNV R60H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 127131 chr6 7862662 7862662 C T rs146521461 BMP6 Nonsynonymous SNV R379W 0.005 0.008 0 5 6 3 0.013 0 0 0 0 0 35 127132 chr6 109220980 109220980 C T rs147498719 ARMC2 Nonsynonymous SNV R113C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 127133 chr6 10931719 10931719 C T rs201080294 SYCP2L Synonymous SNV D560D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 127134 chr6 109669704 109669704 G A rs117544795 CCDC162P 0 0 0.02 0 0 0 0 6 0 0 0 0 9.059 127135 chr6 82922479 82922479 T C rs768533320 IBTK Nonsynonymous SNV I746V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.13 127136 chr6 11005623 11005623 G A rs116021127 ELOVL2 Synonymous SNV S79S 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 8.607 127137 chr9 131559415 131559415 T C TBC1D13 Synonymous SNV F155F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.409 127138 chr6 85473822 85473822 G A rs775800364 TBX18 Synonymous SNV I26I 0.003 0.01 0 0 4 4 0 0 0 0 0 0 12.63 127139 chr9 131742952 131742952 C G rs139565838 NUP188 Nonsynonymous SNV P446R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 127140 chr6 111919262 111919262 G C rs9487678 TRAF3IP2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.347 127141 chr9 131864183 131864183 C T rs147944652 CRAT Nonsynonymous SNV A262T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 127142 chr9 131866527 131866527 T A rs138099517 CRAT Nonsynonymous SNV Y117F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.779 127143 chr8 74334931 74334931 A C rs75740279 STAU2 Nonsynonymous SNV L341V 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 24.8 127144 chr8 23560406 23560406 C A rs534202593 NKX2-6 Nonsynonymous SNV R155L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 127145 chr6 117241594 117241594 C T rs148423198 RFX6 Nonsynonymous SNV T435I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.9 127146 chr7 1481940 1481940 C T rs372454683 MICALL2 Synonymous SNV P533P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 127147 chr7 149461719 149461719 A C rs983354997 ZNF467 Nonsynonymous SNV L104R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.542 127148 chr9 134501721 134501721 C T rs201940435 RAPGEF1 Synonymous SNV P430P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 16.92 127149 chr8 95777489 95777489 G T rs146235628 DPY19L4 Nonsynonymous SNV V317L 0.003 0 0.01 0 3 0 0 3 0 0 0 0 22.5 127150 chr21 45107866 45107866 G C RRP1B Synonymous SNV L537L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.161 127151 chr8 97847316 97847316 G A rs201427497 CPQ Synonymous SNV T183T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.432 127152 chr21 45217930 45217930 G A rs201075773 RRP1 Nonsynonymous SNV G254S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.113 127153 chr8 29102887 29102887 G A rs373464930 KIF13B Nonsynonymous SNV T42M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 127154 chr8 2944766 2944766 T C rs80307148 CSMD1 Nonsynonymous SNV I2443V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.001 127155 chr9 104323166 104323166 G T RNF20 Nonsynonymous SNV E822D 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 127156 chr21 45649969 45649969 G A rs199878735 ICOSLG, LOC102723996 Nonsynonymous SNV A172V 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.888 127157 chr6 1313946 1313946 C G rs771606516 FOXQ1 Nonsynonymous SNV A336G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 11.3 127158 chr9 136323156 136323156 C T rs377686931 ADAMTS13 Synonymous SNV I1339I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.44 127159 chr9 136314957 136314957 G A rs139951127 ADAMTS13 Nonsynonymous SNV R972Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 5.344 127160 chr21 45810848 45810848 G A rs144644492 TRPM2 Synonymous SNV V460V 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 10.8 127161 chr9 100364842 100364842 C T rs145009591 TSTD2 Nonsynonymous SNV R487H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 27.7 127162 chr6 132929592 132929592 C G rs3813353 TAAR3P 0 0 0.01 0 0 0 0 3 0 0 0 0 10.92 127163 chr9 107568525 107568525 T C ABCA1 Synonymous SNV P1487P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.021 127164 chr6 132929993 132929993 T C rs3813350 TAAR3P 0 0 0.058 0 0 0 0 17 0 0 2 0 0.021 127165 chr6 132930324 132930324 T C rs7759004 TAAR3P 0 0 0.037 0 0 0 0 11 0 0 1 0 9.157 127166 chr6 132930379 132930379 A C rs7738600 TAAR3P 0 0 0.031 0 0 0 0 9 0 0 1 0 10.51 127167 chr6 132938817 132938817 G A rs61745666 TAAR2 Synonymous SNV F131F 0.005 0.013 0.027 3 6 5 0.008 8 0 1 2 0 7.397 127168 chr6 13711276 13711276 G C rs202075943 RANBP9 Synonymous SNV L154L 0 0.003 0.01 0 0 1 0 3 0 0 0 0 3.289 127169 chr6 138753437 138753437 C A rs183135718 NHSL1 Nonsynonymous SNV R686L 0.005 0.003 0.017 3 6 1 0.008 5 0 0 0 0 34 127170 chr9 138664772 138664772 C G rs148162797 KCNT1 Nonsynonymous SNV D695E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.078 127171 chr9 138830186 138830186 G T rs372577322 UBAC1 Nonsynonymous SNV D328E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 127172 chr8 418766 418766 G A rs772756063 FBXO25 Nonsynonymous SNV V280M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 127173 chr8 43197047 43197047 A C POTEA Nonsynonymous SNV N359H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 1.736 127174 chr8 55538447 55538447 G A rs201725231 RP1 Nonsynonymous SNV A669T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.008 127175 chr9 111625381 111625381 C T rs149197750 ACTL7A Nonsynonymous SNV A260V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.38 127176 chr6 147054278 147054278 G A rs116326893 ADGB Nonsynonymous SNV R848H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 127177 chr7 158835830 158835830 G C rs752478955 VIPR2 Nonsynonymous SNV L149V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 127178 chr8 55542179 55542179 C T rs200853416 RP1 Nonsynonymous SNV L1913F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.481 127179 chr6 147103175 147103175 G A rs59739522 ADGB Synonymous SNV E1294E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.953 127180 chr6 147124283 147124283 T C rs149867700 KATNBL1P6 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 127181 chr8 56015801 56015801 C T XKR4 Synonymous SNV C251C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 127182 chr8 59544078 59544078 C T NSMAF Nonsynonymous SNV V152I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 127183 chr6 150039179 150039179 - CCG rs775013634 LOC645967 0 0 0.003 0 0 0 0 1 0 0 0 0 127184 chr21 47952128 47952128 T C rs192323584 DIP2A Nonsynonymous SNV I385T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.2 127185 chr6 150209805 150209805 - A rs765094508 RAET1E 0 0 0.014 0 0 0 0 4 0 0 1 0 127186 chr6 151748664 151748664 G A rs17081207 RMND1 Synonymous SNV I91I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.69 127187 chr6 151857479 151857479 C A rs6905111 CCDC170 Synonymous SNV V28V 0 0 0.007 0 0 0 0 2 0 0 0 0 10.31 127188 chr6 151914385 151914385 C A rs35159094 CCDC170 Nonsynonymous SNV N479K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 21.1 127189 chr22 18347497 18347497 C T MICAL3 Nonsynonymous SNV V1049I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.97 127190 chr9 117846594 117846594 C T rs150977004 TNC Synonymous SNV T675T 0 0 0 2 0 0 0.005 0 0 0 0 0 19.07 127191 chr9 139935281 139935281 C T rs199560387 NPDC1 Nonsynonymous SNV D181N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.84 127192 chr7 23293794 23293794 G A rs745549323 GPNMB Nonsynonymous SNV R77H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.461 127193 chr9 140878697 140878697 C T rs759672793 CACNA1B Synonymous SNV V588V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 127194 chr9 116346607 116346607 C T rs148385134 RGS3 Nonsynonymous SNV S293F 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 23.6 127195 chr6 157099426 157099426 - CAGCAG rs587779744 ARID1B Q131_H132insQQ 0 0 0.003 0 0 0 0 1 0 0 0 0 127196 chr6 157488215 157488215 C T ARID1B Nonsynonymous SNV A211V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 127197 chr7 26248022 26248022 T C rs750979706 CBX3 Synonymous SNV N59N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.213 127198 chr7 100686303 100686303 C T rs542570820 MUC17 Nonsynonymous SNV T3869I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.261 127199 chr6 159457708 159457708 C G rs373022207 TAGAP Synonymous SNV S386S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.512 127200 chr9 117143613 117143613 T C rs780516334 AKNA Star tloss M1? 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.2 127201 chr8 8748259 8748259 C T MFHAS1 Nonsynonymous SNV M770I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.041 127202 chr1 23280075 23280075 C T LACTBL1 Nonsynonymous SNV G401S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 33 127203 chr9 2039779 2039779 - CAG SMARCA2 Q238_P239insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 127204 chr8 94811986 94811986 G A rs115563233 TMEM67 Synonymous SNV Q747Q 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.05 127205 chr9 21334594 21334594 C T rs200040272 KLHL9 Nonsynonymous SNV D89N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.45 127206 chr9 120476365 120476365 G A rs5030721 TLR4 Synonymous SNV K453K 0.006 0.018 0.01 1 7 7 0.003 3 0 0 0 0 Benign 9.273 127207 chr9 123725218 123725218 T G rs761105830 C5 Nonsynonymous SNV T1457P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.4 127208 chr6 160858066 160858066 C T rs377738242 SLC22A3 Nonsynonymous SNV R371C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 127209 chr9 18777085 18777085 G A rs372249026 ADAMTSL1 Nonsynonymous SNV R953Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.349 127210 chr9 127119259 127119259 T C rs557938145 LOC100129034 0 0 0 2 0 0 0.005 0 0 0 0 0 1.041 127211 chr6 170102570 170102570 C A rs746103074 C6orf120 Synonymous SNV R5R 0 0 0.007 0 0 0 0 2 0 0 0 0 18.21 127212 chr7 4002437 4002437 C A SDK1 Nonsynonymous SNV S461R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.054 127213 chr9 35546764 35546764 C T rs146775798 RUSC2 Synonymous SNV D82D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.217 127214 chr22 29196498 29196498 - GCC rs528996789 XBP1 A7_P8insA 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 127215 chr22 30200801 30200801 G C rs117333854 ASCC2 Synonymous SNV A215A 0.005 0.005 0.003 9 6 2 0.023 1 0 0 0 0 9.439 127216 chr6 24403377 24403377 C T rs2295651 MRS2 Nonsynonymous SNV P35S 0.014 0.008 0.017 1 16 3 0.003 5 0 0 0 0 3.308 127217 chr6 24412530 24412530 G T rs61733147 MRS2 Synonymous SNV R115R 0.014 0.008 0.017 1 16 3 0.003 5 0 0 0 0 10.69 127218 chr9 111662117 111662117 C T rs374558203 ELP1 Nonsynonymous SNV R381Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 127219 chr9 35906575 35906575 - CACCACCTCCACCACCACCTC rs745974201 HRCT1 H103_H104insLHHLHHH 0.013 0.01 0 4 15 4 0.01 0 1 0 0 1 127220 chr9 37777619 37777619 A T rs199618338 TRMT10B Nonsynonymous SNV Y194F 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Likely benign 9.112 127221 chr9 37777620 37777620 C A rs200754365 TRMT10B Stop gain Y194X 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Likely benign 36 127222 chr6 26235018 26235018 T C rs138119279 HIST1H1D Synonymous SNV A48A 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 0.005 127223 chr6 26271439 26271439 C A rs41266825 HIST1H3G Synonymous SNV S58S 0.009 0.003 0.02 2 11 1 0.005 6 0 0 0 0 16.06 127224 chr9 115024842 115024842 T G rs144595337 PTBP3 Nonsynonymous SNV Q63P 0.008 0.008 0.01 5 9 3 0.013 3 0 1 0 0 18.02 127225 chr9 77354910 77354910 G C rs141933515 TRPM6 Nonsynonymous SNV T1734S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 13.68 127226 chr9 117826096 117826096 G T rs113301777 TNC Nonsynonymous SNV L1247I 0.015 0.013 0.02 7 18 5 0.018 6 0 0 0 0 21.6 127227 chr9 77752523 77752523 C G rs140060824 OSTF1 Nonsynonymous SNV L160V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 127228 chr7 5434107 5434107 G A rs73057725 TNRC18 Nonsynonymous SNV P103S 0.013 0.021 0.01 2 15 8 0.005 3 0 0 0 0 18.28 127229 chr9 79971692 79971692 A G rs202148808 VPS13A Nonsynonymous SNV K2533R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 22.8 127230 chr9 124091559 124091559 C T rs144434647 GSN Nonsynonymous SNV T695M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 27.5 127231 chr7 635849 635849 G A rs76061469 PRKAR1B Synonymous SNV T214T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 4.841 127232 chr7 64169019 64169019 - AA rs201020174 ZNF107 Frameshift insertion Y817Nfs*7 0.002 0.003 0.007 3 2 1 0.008 2 0 0 1 0 127233 chr7 1485043 1485043 C T rs369564366 MICALL2 Synonymous SNV T221T 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 15.74 127234 chr9 99099018 99099018 G C SLC35D2 Nonsynonymous SNV L245V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.9 127235 chr9 127572114 127572114 C G rs1020358517 OLFML2A Nonsynonymous SNV P247R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 127236 chr6 41652451 41652451 G A rs149888805 TFEB Synonymous SNV D354D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.383 127237 chr7 6661438 6661473 ACAGTTACAGCAGCAGCTACTGCTGCAGCAGCAGGA - rs774853180 ZNF853 L263_Q274del 0.001 0 0 0 1 0 0 0 0 0 0 0 127238 chr9 129831631 129831631 T C rs757298097 RALGPS1 Synonymous SNV Y202Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.893 127239 chrX 105011548 105011548 A G rs756159551 IL1RAPL2 Nonsynonymous SNV Q652R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 127240 chr22 44342061 44342061 - TGAGCA PNPLA3 Stop gain A416_L481del 0 0.003 0 0 0 1 0 0 0 0 0 0 127241 chr22 44342065 44342070 TCCCCA - rs906592148 PNPLA3 S417_P418del 0 0.003 0 0 0 1 0 0 0 0 0 0 127242 chrX 122761736 122761736 C T THOC2 Nonsynonymous SNV M855I 0.003 0 0 2 4 0 0.005 0 0 0 0 1 14.07 127243 chr9 131702706 131702706 C T rs755271047 PHYHD1 Nonsynonymous SNV A165V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 127244 chrX 114141586 114141586 A G rs201244838 HTR2C Nonsynonymous SNV I329V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.263 127245 chr6 47253985 47253985 G A rs143523677 TNFRSF21 Nonsynonymous SNV T148M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 127246 chrX 114425966 114425966 C T rs373728766 RBMXL3 Synonymous SNV H654H 0.003 0 0 0 4 0 0 0 0 0 0 0 10.57 127247 chr22 46760036 46760036 C T rs375507061 CELSR1 Synonymous SNV S2964S 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 13.15 127248 chr9 133738340 133738340 A G rs34549764 ABL1 Nonsynonymous SNV K247R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 21.6 127249 chr6 49700982 49700982 G A rs370726738 CRISP3 Synonymous SNV L172L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 127250 chrX 135095545 135095545 A C rs142049079 SLC9A6 Synonymous SNV A395A 0.014 0.016 0.003 5 16 6 0.013 1 2 2 0 2 Benign 1.388 127251 chr7 158534424 158534424 A G rs148502320 ESYT2 Nonsynonymous SNV I632T 0.004 0.01 0 6 5 4 0.015 0 0 0 0 0 0.002 127252 chr9 14851513 14851513 C T rs752047940 FREM1 Synonymous SNV V316V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.71 127253 chr7 18705964 18705964 C T rs35691757 HDAC9 Synonymous SNV S452S 0.017 0.013 0.02 4 20 5 0.01 6 0 0 0 0 15.73 127254 chr7 20199433 20199433 C T rs143776366 MACC1 Nonsynonymous SNV S184N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23 127255 chr9 136401918 136401918 G C rs769290624 ADAMTSL2 Synonymous SNV G28G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.593 127256 chr9 137593098 137593098 C T rs116715381 COL5A1 Synonymous SNV L191L 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 Benign/Likely benign 15.24 127257 chrX 150869148 150869148 C T PRRG3 Synonymous SNV P113P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 127258 chrX 153780293 153780293 G A IKBKG Nonsynonymous SNV V94I 0.003 0.003 0 0 3 1 0 0 1 0 0 0 6.77 127259 chr9 35906583 35906583 - CCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA HRCT1 P106_H107insRHTPHHLHHHHHHHHHP 0 0 0 1 0 0 0.003 0 0 0 0 0 127260 chrX 154299842 154299842 C T BRCC3 Nonsynonymous SNV L14F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 127261 chr9 37733514 37733514 G A rs148144624 FRMPD1 Nonsynonymous SNV R347Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 127262 chrX 18234676 18234676 T C rs761769743 BEND2 Nonsynonymous SNV N68S 0.004 0.005 0 0 5 2 0 0 1 0 0 0 0.001 127263 chr9 33318977 33318977 G A rs144117681 NFX1 Synonymous SNV R586R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.956 127264 chr6 76022557 76022557 G A rs776433993 FILIP1 Synonymous SNV G997G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.525 127265 chr9 139699169 139699169 C G CCDC183-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 2.42 127266 chr9 139836778 139836778 C T rs551104341 FBXW5 Synonymous SNV P272P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.428 127267 chrX 17744916 17744916 C T rs138975293 NHS Nonsynonymous SNV T699M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 127268 chrX 17820108 17820108 T C rs776167787 RAI2 Nonsynonymous SNV N8S 0.003 0 0 0 3 0 0 0 1 0 0 0 22.3 127269 chr6 84333060 84333060 T A SNAP91 Nonsynonymous SNV Q137L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 127270 chrX 19373828 19373828 G A rs202166915 PDHA1 Nonsynonymous SNV V231I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 33 127271 chrX 34149812 34149812 G A FAM47A Nonsynonymous SNV P195L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 19.15 127272 chrX 19428048 19428048 C T rs971762138 MAP3K15 Nonsynonymous SNV G581E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 127273 chrX 46360072 46360072 T G ZNF674 Nonsynonymous SNV K318Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 127274 chrX 47106763 47106763 C T rs41303203 USP11 Synonymous SNV Y827Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.87 127275 chr7 32467648 32467648 G A PDE1C Synonymous SNV P32P 0.001 0.008 0 5 1 3 0.013 0 0 0 0 1 9.68 127276 chrX 37553713 37553713 G A rs147126623 XK Synonymous SNV S140S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.582 127277 chrX 41586678 41586678 C T rs148728451 GPR82 Synonymous SNV C133C 0.002 0 0 0 2 0 0 0 0 0 0 0 4.069 127278 chr8 120795656 120795656 T C TAF2 Nonsynonymous SNV R693G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 127279 chr9 78641945 78641945 C T rs140812686 PCSK5 Synonymous SNV N208N 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 16.44 127280 chr8 120940745 120940745 C T rs774968647 DEPTOR Synonymous SNV H76H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 127281 chrX 54836239 54836239 A G rs11555928 MAGED2 Nonsynonymous SNV K44E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.636 127282 chrX 48631809 48631809 C T rs376994822 GLOD5 Synonymous SNV P147P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 1 16.5 127283 chrX 66766357 66766395 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC - rs749465311 AR G461_G473del 0.005 0.01 0 4 6 4 0.01 0 2 1 0 2 127284 chrX 66931295 66931295 C A rs1800053 AR Nonsynonymous SNV A646D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.25 127285 chr8 125076600 125076600 C T rs182459401 FER1L6 Nonsynonymous SNV S1114L 0.003 0 0 0 3 0 0 0 0 0 0 0 21.6 127286 chrX 69650890 69650890 G A rs144605417 GDPD2 Synonymous SNV S458S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.879 127287 chrX 70073159 70073159 T C rs6525433 TEX11 Nonsynonymous SNV K115R 0.011 0.005 0.014 1 13 2 0.003 4 4 0 1 0 0.002 127288 chr8 126015495 126015495 C T rs771878520 SQLE Synonymous SNV D123D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.988 127289 chr8 127569086 127569086 G A rs142005076 LRATD2 Synonymous SNV R183R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.591 127290 chrX 70389650 70389650 C T rs5981083 NLGN3 Synonymous SNV A710A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.857 127291 chr9 15727887 15727887 C T rs773014527 CCDC171 Synonymous SNV H579H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.259 127292 chrX 57020687 57020687 C A rs200340428 SPIN3 Nonsynonymous SNV V232L 0.001 0 0 2 1 0 0.005 0 0 0 0 1 28 127293 chrX 63568602 63568602 C G MTMR8 Nonsynonymous SNV E224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.632 127294 chrX 63576134 63576134 G A rs142863085 MTMR8 Nonsynonymous SNV R78W 0.001 0 0 2 1 0 0.005 0 0 0 0 1 23.8 127295 chrX 64708848 64708848 A G ZC3H12B Nonsynonymous SNV N56S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 127296 chrX 55515141 55515141 C T USP51 Nonsynonymous SNV G78S 0.001 0 0 2 1 0 0.005 0 0 0 0 1 23 127297 chrX 86869450 86869450 G A rs182407111 KLHL4 Nonsynonymous SNV A202T 0 0.003 0 0 0 1 0 0 0 0 0 0 28 127298 chr9 96214357 96214357 C G FAM120A Nonsynonymous SNV L54V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 127299 chr7 45123783 45123859 CAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACG - NACAD M642Pfs*4 0.011 0.01 0 5 13 4 0.013 0 0 0 0 0 127300 chr9 99015141 99015141 T C rs200961609 HSD17B3 Nonsynonymous SNV D110G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.6 127301 chrX 92928109 92928114 GCTGCT - rs768843887 NAP1L3 S64_S65del 0.005 0 0 0 6 0 0 0 1 0 0 0 127302 chrX 99943418 99943420 TCT - rs200492084 SYTL4 E311del 0.004 0.01 0.017 1 5 4 0.003 5 1 1 1 0 127303 chrX 91456393 91456393 G A rs4252205 PCDH11X Nonsynonymous SNV R1018Q 0.005 0 0 2 6 0 0.005 0 2 0 0 1 Benign 12.74 127304 chr9 34613803 34613803 C T rs1802447 DCTN3 Synonymous SNV T151T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.76 127305 chr7 4900650 4900650 T C PAPOLB Synonymous SNV A264A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 3.371 127306 chr9 95030531 95030531 T C rs144681367 IARS1 Synonymous SNV A452A 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Likely benign 10.14 127307 chr9 35043489 35043489 T G rs61742475 C9orf131 Nonsynonymous SNV L253R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.83 127308 chr1 109655256 109655256 C T rs762170736 C1orf194 Nonsynonymous SNV D16N 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 18.71 127309 chr9 35715153 35715153 T A TLN1 Nonsynonymous SNV Q886L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 127310 chr7 5112035 5112035 C T rs7780525 RBAK-RBAKDN Nonsynonymous SNV A94V 0.006 0.01 0.007 7 7 4 0.018 2 0 0 0 0 20.2 127311 chr7 5112057 5112057 C G rs182833256 RBAK-RBAKDN Synonymous SNV P101P 0.006 0.008 0.007 7 7 3 0.018 2 0 0 0 0 10.4 127312 chr9 35910482 35910482 G A SPAAR Nonsynonymous SNV V8M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 127313 chr9 96305633 96305633 C T FAM120A Nonsynonymous SNV A679V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 127314 chr7 100685104 100685104 G A rs149519380 MUC17 Synonymous SNV P3469P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.222 127315 chr7 100841590 100841590 C G rs141385847 MOGAT3 Nonsynonymous SNV G184R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 127316 chr7 101840584 101840584 - GGTGAGAGACTGGCGTTGGGT CUX1 R642_E643insGERLALG 0 0 0.003 0 0 0 0 1 0 0 0 0 127317 chr9 37746756 37746756 C T rs199579506 FRMPD1 Nonsynonymous SNV T1576M 0.002 0 0 0 2 0 0 0 0 0 0 0 17.14 127318 chrX 103294911 103294911 T G rs782603545 H2BW2 Nonsynonymous SNV L123R 0.003 0 0 0 3 0 0 0 1 0 0 0 24 127319 chrX 140994386 140994490 CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTACAGAGTTCTCCTGAGAGTGCTCAAAGTG - MAGEC1 M412_P446del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 127320 chrX 105279268 105279268 T C SERPINA7 Nonsynonymous SNV Y244C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 127321 chr10 112541117 112541117 C T RBM20 Synonymous SNV F250F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.243 127322 chr10 112544564 112544564 C G rs752506719 RBM20 Nonsynonymous SNV L482V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.75 127323 chr7 103180686 103180686 C T rs142792443 RELN Synonymous SNV P2296P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.33 127324 chr7 107432300 107432300 G T rs73419912 SLC26A3 Nonsynonymous SNV F119L 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Benign/Likely benign 0.001 127325 chrX 150912581 150912581 C T rs142292266 CNGA2 Nonsynonymous SNV R536C 0.003 0.013 0 2 3 5 0.005 0 1 1 0 0 33 127326 chr7 107706259 107706259 A G rs144099856 LAMB4 Synonymous SNV Y928Y 0.006 0 0.007 0 7 0 0 2 1 0 0 0 Likely benign 4.66 127327 chrX 111145382 111145382 C T TRPC5OS Nonsynonymous SNV S102F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.304 127328 chr8 144996236 144996236 C G rs200488179 PLEC Nonsynonymous SNV E2571Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.917 127329 chr21 47735445 47735445 C T rs77907804 C21orf58 Synonymous SNV P129P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.81 127330 chr7 122341985 122341985 A G rs138284424 RNF148 Synonymous SNV L274L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.33 127331 chr7 122635173 122635173 A C rs846664 TAS2R16 Nonsynonymous SNV N172K 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Affects, risk factor 0.001 127332 chr10 115897017 115897017 T C rs747896403 CCDC186 Synonymous SNV T418T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.026 127333 chr10 116049203 116049203 G T rs142413003 VWA2 Nonsynonymous SNV D693Y 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 127334 chr7 122635386 122635386 C G rs2692396 TAS2R16 Synonymous SNV V101V 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 3.886 127335 chr10 118225571 118225571 C A rs144087426 PNLIPRP3 Nonsynonymous SNV S273Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 127336 chr1 118506441 118506441 C T rs112012491 SPAG17 Nonsynonymous SNV R2218H 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 13.11 127337 chr7 123516944 123516944 C T rs150077532 HYAL4 Nonsynonymous SNV A394V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 127338 chr8 145164617 145164617 G A rs13281660 WDR97 Synonymous SNV A460A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.866 127339 chr9 79635729 79635729 G C rs377521125 FOXB2 Nonsynonymous SNV A387P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.21 127340 chr8 145168987 145168987 C T rs760338106 WDR97 Synonymous SNV Y1172Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.922 127341 chr7 8181630 8181630 G A ICA1 Stop gain Q320X 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 11.72 127342 chr9 80046237 80046237 C T GNA14 Nonsynonymous SNV R198Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 127343 chr7 127222759 127222759 T C GCC1 Nonsynonymous SNV Q546R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 127344 chr7 127979348 127979348 G A rs138804501 RBM28 Nonsynonymous SNV P102L 0 0 0.01 0 0 0 0 3 0 0 0 0 0.087 127345 chr9 88842804 88842804 C T rs73650939 C9orf153 Nonsynonymous SNV A70T 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.038 127346 chr8 145662196 145662196 C T rs376621492 TONSL Nonsynonymous SNV E612K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 127347 chr10 102770539 102770539 T - rs397516633 PDZD7 S703Vfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 127348 chr7 87466068 87466068 T G rs139396104 SLC25A40 Nonsynonymous SNV N294T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17.09 127349 chr8 145700381 145700381 C G rs144830740 FOXH1 Nonsynonymous SNV S113T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 23 127350 chr9 95841858 95841858 G T rs41313323 SUSD3 Nonsynonymous SNV Q114H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.652 127351 chr10 105207301 105207301 C T rs2232662 CALHM2 Nonsynonymous SNV V194M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 127352 chrX 100177829 100177829 T C rs200601268 XKRX Nonsynonymous SNV Y186C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 127353 chr10 126715730 126715730 G A rs553177093 CTBP2 Nonsynonymous SNV A200V 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 5.122 127354 chrX 151820101 151820101 T C rs782062972 GABRQ Synonymous SNV F338F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.936 127355 chr10 108339096 108339096 G A rs182934530 SORCS1 Synonymous SNV T1134T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.221 127356 chr8 17919787 17919787 C G ASAH1 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 27.4 127357 chr10 128153485 128153485 A C rs149443145 C10orf90 Synonymous SNV P438P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.065 127358 chr7 138719344 138719344 T C ZC3HAV1L Nonsynonymous SNV N149S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 127359 chr10 129681984 129681984 C A rs750283151 CLRN3 Nonsynonymous SNV V129L 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 24.6 127360 chr10 127555754 127555754 T C DHX32 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 127361 chr10 127730762 127730762 T C ADAM12 Nonsynonymous SNV Q718R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.344 127362 chrX 110980084 110980084 C T rs200066623 ALG13 Nonsynonymous SNV S729F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 29.2 127363 chrX 112035188 112035188 C T rs139476840 AMOT Nonsynonymous SNV V600I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 127364 chr7 141364719 141364719 C T rs759216455 DENND11 Nonsynonymous SNV R363Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 127365 chr7 99720002 99720002 G T rs143557149 CNPY4 Nonsynonymous SNV S80I 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 23.7 127366 chr10 100179892 100179892 C T rs79218830 HPS1 Synonymous SNV A469A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 19.15 127367 chr7 99999542 99999542 C A ZCWPW1 Nonsynonymous SNV G532C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 127368 chrX 117960044 117960044 G A rs60448399 ZCCHC12 Synonymous SNV L279L 0.004 0 0 2 5 0 0.005 0 1 0 0 1 9.122 127369 chrX 118284420 118284420 C T rs180677910 KIAA1210 Synonymous SNV A41A 0.005 0 0.003 2 6 0 0.005 1 2 0 0 1 12.88 127370 chrX 118370344 118370344 G A rs146454187 PGRMC1 Synonymous SNV V6V 0.001 0 0 2 1 0 0.005 0 0 0 0 1 11.08 127371 chr8 22006380 22006380 G A rs199514520 LGI3 Nonsynonymous SNV R314C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 127372 chrX 129147531 129147531 G A rs61752973 BCORL1 Synonymous SNV A261A 0.005 0.005 0 2 6 2 0.005 0 2 1 0 0 Benign 0.968 127373 chr8 104664438 104664438 A G rs142073056 RIMS2 Nonsynonymous SNV K61R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.42 127374 chr7 148802459 148802459 T C rs148093291 ZNF425 Synonymous SNV K168K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.008 127375 chr22 30688717 30688717 C G TBC1D10A Nonsynonymous SNV A399P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 127376 chr7 149513118 149513118 G A rs144756841 SSPO 0.002 0 0.007 0 2 0 0 2 0 0 0 0 5.438 127377 chr10 135107170 135107170 C T rs142279711 TUBGCP2 Synonymous SNV G110G 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 13.17 127378 chr10 17113456 17113456 C T rs138083522 CUBN Nonsynonymous SNV S865N 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 Benign/Likely benign 8.604 127379 chr10 112044663 112044663 T C rs149224630 MXI1 Nonsynonymous SNV I156T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.2 127380 chrX 148037912 148037912 A C rs201075062 AFF2 Synonymous SNV S420S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 127381 chrX 54777550 54777550 C A rs139183502 ITIH6 Stop gain E1206X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 127382 chr10 124339398 124339398 C T rs767249185 DMBT1 Synonymous SNV D328D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.363 127383 chr8 113347652 113347652 G A rs113449703 CSMD3 Synonymous SNV T2157T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 12.35 127384 chr10 114176759 114176759 G A rs746759797 ACSL5 Synonymous SNV K455K 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 6.878 127385 chrX 65252495 65252495 G A rs768706687 VSIG4 Nonsynonymous SNV S170F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.8 127386 chr7 150746505 150746505 C T ASIC3 Nonsynonymous SNV T178M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.681 127387 chr8 120867994 120867994 G C rs116553136 DSCC1 Nonsynonymous SNV I14M 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 20.6 127388 chr8 30565624 30565624 G A rs8190955 GSR Nonsynonymous SNV R153C 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign 27.6 127389 chr8 30585092 30585092 A G rs2280855 GSR Synonymous SNV G87G 0.007 0.003 0.01 6 8 1 0.015 3 0 0 0 0 Benign 3.975 127390 chr8 121209041 121209041 G T rs61729463 COL14A1 Nonsynonymous SNV V150F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.17 127391 chr10 126463351 126463351 C T rs199727427 EEF1AKMT2 Nonsynonymous SNV A20T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 127392 chr8 30585164 30585164 G A rs2280854 GSR Synonymous SNV A63A 0.007 0.003 0.007 5 8 1 0.013 2 0 0 0 0 Benign 7.424 127393 chrX 70282764 70282764 G A rs16989247 SNX12 Synonymous SNV C63C 0.003 0.008 0.007 3 4 3 0.008 2 1 1 1 0 13.27 127394 chr8 124371872 124371872 C T rs528861654 ATAD2 Nonsynonymous SNV R404Q 0 0.008 0 0 0 3 0 0 0 0 0 0 34 127395 chr10 116207697 116207697 G A rs777694598 ABLIM1 Synonymous SNV S182S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 12.83 127396 chrX 153761811 153761811 C G rs137852318 G6PD Nonsynonymous SNV D312H 0.001 0.003 0.01 1 1 1 0.003 3 0 0 1 0 Conflicting interpretations of pathogenicity 24.8 127397 chr10 23728990 23728990 C T rs574869227 OTUD1 Synonymous SNV L202L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.255 127398 chr10 29813451 29813451 T C rs558528820 SVIL Nonsynonymous SNV M420V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.68 127399 chr7 1626917 1626917 G A rs111684857 PSMG3-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.284 127400 chr7 1627224 1627224 C A rs112952099 PSMG3-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.357 127401 chr8 41575636 41575636 G A rs148471199 ANK1 Synonymous SNV D398D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.967 127402 chr8 131128940 131128940 G C rs146886116 ASAP1 Nonsynonymous SNV T683S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.26 127403 chr7 16720963 16720963 C T rs77834852 BZW2 Synonymous SNV T91T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 127404 chr8 43051618 43051618 T C rs541973128 HGSNAT Synonymous SNV L504L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.696 127405 chr7 1784916 1784916 C G rs141480773 ELFN1 Synonymous SNV G228G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.003 127406 chrX 3030248 3030248 C T rs142529716 ARSF Nonsynonymous SNV P475L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 127407 chr10 134016272 134016272 C T rs139206037 DPYSL4 Synonymous SNV F468F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 127408 chrX 32381049 32381049 T A rs200887855 DMD Synonymous SNV I386I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.116 127409 chr8 57026200 57026200 G C rs200951438 MOS Nonsynonymous SNV H114Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 127410 chr7 21744194 21744194 G A rs140048925 DNAH11 Nonsynonymous SNV R2139K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.72 127411 chr7 21789851 21789851 G A rs538735006 DNAH11 Nonsynonymous SNV D2937N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 127412 chr7 23205487 23205487 G A rs150952945 KLHL7 Synonymous SNV P369P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 127413 chr10 32320145 32320145 T C rs749521294 KIF5B Synonymous SNV A479A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.89 127414 chrX 55033589 55033589 T C rs61735091 APEX2 Synonymous SNV T255T 0.011 0.008 0 5 13 3 0.013 0 3 0 0 2 0.004 127415 chr10 15317858 15317858 G C FAM171A1 Nonsynonymous SNV F138L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 127416 chr8 71053580 71053580 G A rs767352400 NCOA2 Nonsynonymous SNV P887L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 127417 chr7 29976252 29976252 T C rs142082320 SCRN1 Synonymous SNV T207T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.91 127418 chr10 46967489 46967489 G A rs782638571 LOC102724488, SYT15 Synonymous SNV F80F 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 12.35 127419 chr10 48428670 48428670 C T rs782375111 GDF10 Nonsynonymous SNV A406T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 127420 chr8 77764207 77764207 G A rs28432935 ZFHX4 Nonsynonymous SNV A1684T 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 11.08 127421 chr7 30876316 30876316 C T rs187366942 MINDY4 Nonsynonymous SNV S392L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 8.487 127422 chr7 31124376 31124376 G T rs138233303 ADCYAP1R1 Nonsynonymous SNV A134S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.6 127423 chr1 174977826 174977826 G A rs150031571 CACYBP Nonsynonymous SNV E129K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.9 127424 chr8 82441694 82441694 C T rs16909315 FABP12 Synonymous SNV T75T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.31 127425 chr10 20335832 20335832 T C rs760509918 PLXDC2 Nonsynonymous SNV I120T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 127426 chr1 176833427 176833427 T C rs61756323 ASTN1 Nonsynonymous SNV E1301G 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 23.6 127427 chr10 21108433 21108433 C T NEBL Nonsynonymous SNV E659K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 127428 chr8 8747815 8747815 G C rs745467872 MFHAS1 Synonymous SNV A918A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.249 127429 chr8 87641258 87641258 C T rs192568942 CNGB3 Nonsynonymous SNV A457T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.8 127430 chr7 35414592 35414592 C T rs144982595 LOC401324 0 0 0.024 0 0 0 0 7 0 0 0 0 20.1 127431 chr7 4014021 4014021 A G rs141337323 SDK1 Nonsynonymous SNV N613S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.843 127432 chr1 984815 984815 G A rs200870228 AGRN Nonsynonymous SNV E1500K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 127433 chr1 179851707 179851707 C G rs146976883 TOR1AIP1 Nonsynonymous SNV P24A 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Benign 25.9 127434 chr8 95523926 95523926 G A rs750108301 VIRMA Synonymous SNV A959A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.81 127435 chr1 1226879 1226879 G A rs374792621 SCNN1D Synonymous SNV P766P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.337 127436 chr1 1262886 1262886 G A rs201918850 CPTP Nonsynonymous SNV E130K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 127437 chr8 144940777 144940777 G - rs782254546 EPPK1 V2216Sfs*28 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 127438 chr7 42187829 42187829 G A rs150295615 GLI3 Synonymous SNV H121H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.677 127439 chr1 1263037 1263037 C A rs151183081 CPTP Nonsynonymous SNV P180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 127440 chr8 144940783 144940784 GT - rs782337779 EPPK1 D2213Gfs*196 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 127441 chr8 144940785 144940785 - AT rs782002079 EPPK1 Frameshift insertion D2213Mfs*32 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 127442 chr8 144940790 144940790 A G rs782069104 EPPK1 Nonsynonymous SNV M2211T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 127443 chr1 1290708 1290708 C T rs144784794 MXRA8 Nonsynonymous SNV A31T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 127444 chr7 44579475 44579475 C T rs116204045 NPC1L1 Nonsynonymous SNV R174H 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 8.824 127445 chr8 144995500 144995500 T C rs199720608 PLEC Nonsynonymous SNV Y2816C 0.003 0.008 0.014 0 3 3 0 4 0 0 0 0 Benign/Likely benign 20.2 127446 chr10 123844834 123844834 A G rs140606887 TACC2 Nonsynonymous SNV K940R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.142 127447 chr9 103340602 103340602 G A rs372394474 CAVIN4 Synonymous SNV R59R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.196 127448 chr10 64574061 64574061 T C EGR2 Nonsynonymous SNV I113V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 127449 chr1 1897889 1897889 G C rs61734007 CFAP74 Nonsynonymous SNV P441R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.005 127450 chr10 33137576 33137576 C A rs557982096 CCDC7 Synonymous SNV I1275I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.09 127451 chr8 145001617 145001617 G A rs112173070 PLEC Synonymous SNV A1225A 0.003 0.008 0.02 0 4 3 0 6 0 0 1 0 Benign 7.946 127452 chr1 2130352 2130352 A C rs182979463 FAAP20 Nonsynonymous SNV C26G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 127453 chr7 48146639 48146639 A G rs2230761 UPP1 Synonymous SNV T65T 0.006 0.003 0.024 0 7 1 0 7 0 0 1 0 Benign 0.002 127454 chr1 196965018 196965018 C T rs748797364 CFHR5 Nonsynonymous SNV P260L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 127455 chr7 48313091 48313091 A C rs73697119 ABCA13 Synonymous SNV T1276T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 127456 chr7 48313155 48313155 A G rs73697120 ABCA13 Nonsynonymous SNV I1298V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 127457 chr10 126097153 126097153 C T rs148433929 OAT Nonsynonymous SNV V22M 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.2 127458 chr1 3425722 3425722 G A rs117113675 MEGF6 Nonsynonymous SNV P482L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.063 127459 chr10 46111984 46111984 G C ZFAND4 Nonsynonymous SNV A695G 0.004 0 0 0 5 0 0 0 0 0 0 0 26.1 127460 chr9 111625374 111625374 A T rs145223364 ACTL7A Nonsynonymous SNV N258Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 127461 chr10 69692476 69692476 C T rs143083420 HERC4 Nonsynonymous SNV D651N 0.006 0.003 0.024 1 7 1 0.003 7 0 0 0 0 22.2 127462 chr1 6529183 6529188 TCCTCC - rs748573566 PLEKHG5 E722_E723del 0.012 0.01 0.01 1 14 4 0.003 3 0 0 0 0 127463 chr1 6529186 6529188 TCC - PLEKHG5 E723del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 127464 chr10 70646026 70646026 A T rs41278532 STOX1 Nonsynonymous SNV N825I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 127465 chr10 46999923 46999923 T A GPRIN2 Nonsynonymous SNV V348E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 127466 chr10 73464860 73464860 A G rs372401651 CDH23 Nonsynonymous SNV S976G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 26.7 127467 chr10 133106570 133106570 G A rs150400035 TCERG1L Nonsynonymous SNV R192C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 127468 chr7 618974 618974 C T rs77809618 PRKAR1B Synonymous SNV A270A 0.004 0.003 0.014 3 5 1 0.008 4 0 0 0 0 Benign 18.17 127469 chr10 49658678 49658678 C T rs78948042 ARHGAP22 Synonymous SNV P408P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.869 127470 chr8 146076474 146076474 C A rs141237370 COMMD5 Nonsynonymous SNV A84S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.164 127471 chr10 50034832 50034832 C T rs56707063 WDFY4 Synonymous SNV L2033L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 127472 chr8 1497603 1497603 C T DLGAP2 Synonymous SNV P328P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 127473 chr1 9655999 9655999 G T TMEM201 Synonymous SNV T55T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.935 127474 chr10 75264641 75264641 C T rs375867504 USP54 Synonymous SNV E1364E 0.002 0 0 0 2 0 0 0 0 0 0 0 17.28 127475 chr1 11008417 11008417 G A rs146525406 C1orf127 Nonsynonymous SNV A453V 0.01 0.023 0.003 2 12 9 0.005 1 0 0 0 0 0.211 127476 chr9 117108158 117108158 G A rs769639067 AKNA Nonsynonymous SNV R1097W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 127477 chr7 74103342 74103342 C T rs587641821 LOC101926943 0 0 0.003 0 0 0 0 1 0 0 0 0 3.253 127478 chr10 76781852 76781863 GAGGAGGAAGAA - rs201769534 KAT6B E305_E308del 0.005 0.01 0.014 4 6 4 0.01 4 0 0 0 0 127479 chr10 5242231 5242231 G A rs782431356 AKR1C4 Nonsynonymous SNV E58K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 127480 chr10 53458739 53458739 G A rs770916281 CSTF2T Synonymous SNV L191L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.043 127481 chr10 54074798 54074798 G T rs149268042 DKK1 Nonsynonymous SNV R120L 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 35 127482 chr10 79741951 79741951 A G POLR3A Synonymous SNV G1240G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.219 127483 chr10 77159278 77159278 C T rs1037867370 ZNF503 Synonymous SNV V390V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.731 127484 chr1 12091410 12091410 G A rs140706620 MIIP Nonsynonymous SNV A344T 0.005 0 0 0 6 0 0 0 0 0 0 0 0.003 127485 chr9 124751792 124751792 G A rs115487738 TTLL11 Synonymous SNV D407D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.898 127486 chr7 84642131 84642131 C T rs375254494 SEMA3D Nonsynonymous SNV D579N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.1 127487 chr1 15541745 15541745 T C rs745576848 TMEM51 Synonymous SNV G54G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.401 127488 chr10 90341351 90341351 T C rs367718389 RNLS Nonsynonymous SNV I114V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.989 127489 chr10 87966230 87966230 C T rs987674711 GRID1 Synonymous SNV E137E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 127490 chrX 71872498 71872498 C T rs141251024 PHKA1 Nonsynonymous SNV D381N 0.003 0 0.007 1 4 0 0.003 2 2 0 0 0 Likely benign 23.9 127491 chr10 91177870 91177870 A G rs369610086 IFIT5 Nonsynonymous SNV H305R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 127492 chr10 89264786 89264786 G T rs149262703 MINPP1 Synonymous SNV P38P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.808 127493 chr10 70507298 70507298 C G rs35776267 CCAR1 Synonymous SNV P252P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.75 127494 chrX 83359598 83359598 C T rs750832618 RPS6KA6 Nonsynonymous SNV R508H 0.003 0 0 1 4 0 0.003 0 2 0 0 0 23.9 127495 chr10 91177835 91177835 C T IFIT5 Synonymous SNV Y293Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.954 127496 chr7 93346271 93346271 A G rs949689403 MIR4652 0 0 0.003 0 0 0 0 1 0 0 0 0 2.459 127497 chr8 27288514 27288514 C A rs61738530 PTK2B Nonsynonymous SNV T264N 0.014 0.013 0.01 3 17 5 0.008 3 1 0 0 0 Likely benign 19.52 127498 chr7 97820995 97820995 G A LMTK2 Synonymous SNV L406L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.152 127499 chr10 95660845 95660845 C T rs41290238 SLC35G1 Synonymous SNV A232A 0.003 0 0 0 4 0 0 0 0 0 0 0 9.762 127500 chr10 72358238 72358238 G A PRF1 Synonymous SNV G413G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.12 127501 chr1 20063936 20063936 A G rs35274017 TMCO4 Nonsynonymous SNV V398A 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 127502 chr1 20072062 20072062 G A rs35722858 TMCO4 Synonymous SNV T280T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 127503 chr9 128067419 128067419 G A rs62637640 GAPVD1 Synonymous SNV K369K 0.007 0.005 0.014 0 8 2 0 4 0 0 0 0 12.71 127504 chr10 96961809 96961809 G A ACSM6 Nonsynonymous SNV S87N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 127505 chr1 21212750 21212750 T G EIF4G3 Nonsynonymous SNV K734Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 127506 chr8 101601206 101601206 C A rs767976243 SNX31 Nonsynonymous SNV G228V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.7 127507 chr10 97181828 97181828 C T SORBS1 Nonsynonymous SNV E70K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 127508 chr10 55721636 55721636 C A rs45483395 PCDH15 Nonsynonymous SNV R891L 0.005 0.008 0.003 7 6 3 0.018 1 1 0 0 0 Conflicting interpretations of pathogenicity 19.86 127509 chrX 110987954 110987980 ACCACCACCACCACCACCACCACCACC - ALG13 P937_P945del 0 0 0 1 0 0 0.003 0 0 0 0 0 127510 chr9 130493056 130493056 T C rs146351533 TTC16 Nonsynonymous SNV L652P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.136 127511 chr10 97101324 97101324 G A rs143583590 SORBS1 Synonymous SNV I497I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.82 127512 chr10 73491829 73491829 C T rs56107171 CDH23 Synonymous SNV T1267T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.809 127513 chr1 22161190 22161190 C T rs115616224 HSPG2 Nonsynonymous SNV V3569I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 24.6 127514 chr10 43883044 43883044 A G rs139051340 HNRNPF Synonymous SNV L97L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.267 127515 chr10 99139482 99139482 G A RRP12 Nonsynonymous SNV H427Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 127516 chr1 22170652 22170652 C G rs139838884 HSPG2 Nonsynonymous SNV A2870P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.68 127517 chr1 22174498 22174498 C T rs147286334 HSPG2 Nonsynonymous SNV R2610Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.68 127518 chr10 75854083 75854083 C T rs2229507 VCL Synonymous SNV A469A 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 Benign/Likely benign 19.49 127519 chr1 22179462 22179462 C T rs143109401 HSPG2 Nonsynonymous SNV A2182T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 127520 chr8 37689071 37689071 G A rs148701575 ADGRA2 Nonsynonymous SNV A355T 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 22.6 127521 chr10 75854182 75854182 G A rs2228373 VCL Synonymous SNV R502R 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 Benign/Likely benign 14.35 127522 chr10 75855491 75855491 C G rs370229150 VCL Nonsynonymous SNV L541V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 127523 chr9 131418966 131418966 C T rs778409061 WDR34 Nonsynonymous SNV G14R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.55 127524 chr10 76790382 76790382 C G rs371761042 KAT6B Nonsynonymous SNV P1153A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 127525 chr10 99667893 99667893 C T rs145079584 CRTAC1 Nonsynonymous SNV V243I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 127526 chr8 38854649 38854649 G C ADAM9 Nonsynonymous SNV V23L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 127527 chr8 110587894 110587894 T C rs35097569 SYBU Synonymous SNV A281A 0.003 0 0.01 1 4 0 0.003 3 0 0 1 0 0.009 127528 chr8 41575677 41575677 G A rs142626656 ANK1 Nonsynonymous SNV R385C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 127529 chr8 117868450 117868450 G C rs148308569 RAD21 Nonsynonymous SNV P298A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.56 127530 chr10 70287022 70287022 C T rs954474652 SLC25A16 Synonymous SNV L37L 0.002 0 0 5 2 0 0.013 0 0 0 0 0 16.33 127531 chr8 124243823 124243823 C G rs772056427 C8orf76, ZHX1-C8orf76 Nonsynonymous SNV G178R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.864 127532 chr10 71000431 71000431 C T HKDC1 Synonymous SNV A205A 0.002 0 0 5 2 0 0.013 0 0 0 0 0 14.98 127533 chr1 26349729 26349729 C T EXTL1 Nonsynonymous SNV L198F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 127534 chr10 90681152 90681152 A G rs987438476 STAMBPL1 Nonsynonymous SNV D385G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 127535 chr1 26671388 26671388 A G rs1045653510 CRYBG2 Synonymous SNV G587G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.692 127536 chr1 27660703 27660705 ACA - TMEM222 N159del 0.001 0 0 0 1 0 0 0 0 0 0 0 127537 chr1 27684935 27684935 G A rs145815944 MAP3K6 Synonymous SNV S909S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.059 127538 chr10 5925047 5925047 G A rs61729847 ANKRD16 Synonymous SNV F257F 0.014 0.003 0.014 5 17 1 0.013 4 0 0 0 0 14.76 127539 chr10 5979222 5979222 C G rs34731660 FBH1 Synonymous SNV A1037A 0.014 0.003 0.007 5 16 1 0.013 2 0 0 0 0 15.7 127540 chr9 138395681 138395681 C T rs776170285 MRPS2 Nonsynonymous SNV T198M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 127541 chr10 6150677 6150677 C A rs12264240 RBM17 Synonymous SNV P178P 0.006 0 0 0 7 0 0 0 0 0 0 0 18.66 127542 chr1 899896 899896 C A KLHL17 Synonymous SNV P562P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.192 127543 chr10 62493056 62493056 - GGAGGAGGC ANK3 S7_S8insASS 0.001 0 0 0 1 0 0 0 0 0 0 0 127544 chr10 97983635 97983635 C A rs148612299 BLNK Nonsynonymous SNV A158S 0.003 0.008 0.014 2 4 3 0.005 4 0 0 0 0 Benign/Likely benign 0.009 127545 chr10 98157006 98157006 G A rs138680811 TLL2 Nonsynonymous SNV L441F 0.004 0 0 0 5 0 0 0 0 0 0 0 27.2 127546 chr10 75290216 75290216 G A rs41280398 USP54 Synonymous SNV L448L 0.024 0.026 0.014 13 28 10 0.033 4 2 0 0 0 8.811 127547 chr10 68280396 68280396 C T rs748498333 CTNNA3 Nonsynonymous SNV D504N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 127548 chr10 68687591 68687591 A G LRRTM3 Nonsynonymous SNV D306G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.73 127549 chr8 142228635 142228635 C T rs142593631 SLC45A4 Synonymous SNV K317K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.286 127550 chr11 102987435 102987435 A C rs766381281 DYNC2H1 Nonsynonymous SNV D253A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22 127551 chr8 142441117 142441117 G A rs145258592 PTP4A3 Synonymous SNV T140T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.41 127552 chr11 1016605 1016605 C T rs147913342 MUC6 Nonsynonymous SNV V2066M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.421 127553 chr8 98725970 98725970 G A rs2331652 MTDH Synonymous SNV K396K 0.009 0.008 0 6 10 3 0.015 0 0 0 0 0 13.97 127554 chr1 35331891 35331893 CTT - rs771547387 DLGAP3 K911del 0.001 0 0 0 1 0 0 0 0 0 0 0 127555 chr1 37941199 37941199 G A rs139561979 ZC3H12A Synonymous SNV P34P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.669 127556 chr8 144893449 144893449 C T rs200060057 SCRIB Nonsynonymous SNV E325K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 127557 chr10 72489084 72489084 T C rs145632694 ADAMTS14 Nonsynonymous SNV V302A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.001 127558 chr8 144943243 144943243 C T rs185094602 EPPK1 Synonymous SNV L1393L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.626 127559 chr8 144946188 144946188 G A rs140364895 EPPK1 Nonsynonymous SNV R412W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 32 127560 chr8 144946484 144946484 C A rs144289918 EPPK1 Nonsynonymous SNV G313V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.15 127561 chr10 72635282 72635282 G C rs151062610 SGPL1 Nonsynonymous SNV L474F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.7 127562 chr11 111177302 111177302 T G rs201037042 COLCA2 Nonsynonymous SNV F17C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 20.4 127563 chr10 94834752 94834752 G T rs149343022 CYP26A1 Nonsynonymous SNV V211L 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 14.59 127564 chr1 43647256 43647256 G A rs756815800 CFAP57 Nonsynonymous SNV R70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 127565 chr10 74879836 74879836 G A rs76384520 NUDT13 Synonymous SNV A48A 0.005 0 0.003 0 6 0 0 1 0 0 0 0 13.16 127566 chr9 20456726 20456726 T C MLLT3 Synonymous SNV P81P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.093 127567 chr11 113105771 113105771 C T rs375193862 NCAM1 Synonymous SNV I560I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 127568 chr8 145578358 145578358 C T TMEM249 Nonsynonymous SNV G24R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 127569 chr1 9074873 9074873 C T rs149017120 SLC2A7 Nonsynonymous SNV R257H 0.004 0.01 0 8 5 4 0.021 0 0 0 0 0 11.94 127570 chr8 145581818 145581818 G A rs200381094 FBXL6 Nonsynonymous SNV P97L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.327 127571 chr8 145582846 145582848 AGA - rs1064794427 SLC52A2 0 0 0.003 0 0 0 0 1 0 0 0 0 127572 chr8 145639654 145639654 T C rs75920625 SLC39A4 Nonsynonymous SNV T356A 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 Likely benign 20.9 127573 chr8 145641588 145641588 A G rs115637224 SLC39A4 Nonsynonymous SNV V2A 0 0 0.007 0 0 0 0 2 0 0 0 0 4.28 127574 chr8 145651575 145651575 C T rs115458013 VPS28 Synonymous SNV P18P 0 0 0.007 0 0 0 0 2 0 0 0 0 17.06 127575 chr8 145659010 145659010 A G rs35351970 TONSL Nonsynonymous SNV F1174L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.221 127576 chr8 145730809 145730809 G T rs141187317 GPT Nonsynonymous SNV G226C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.56 127577 chr8 145736082 145736082 T C rs35905340 MFSD3 Nonsynonymous SNV M311T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.566 127578 chr8 145738410 145738410 - GGTGCA rs758738837 RECQL4 T858_R859insCT 0 0 0.003 0 0 0 0 1 0 0 0 0 127579 chr8 145738827 145738827 C T rs35215952 RECQL4 Synonymous SNV A746A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.018 127580 chr8 145742850 145742850 T C rs35198096 RECQL4 Nonsynonymous SNV Q54R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.227 127581 chr10 79581479 79581479 G A rs201321402 DLG5 Synonymous SNV T921T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.158 127582 chr8 145773236 145773236 C G rs61735921 ARHGAP39 Nonsynonymous SNV A412P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 127583 chr10 99377053 99377053 T A MORN4 Nonsynonymous SNV M32L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.91 127584 chr8 146202627 146202627 G C rs78880717 ZNF252P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.96 127585 chr11 119050896 119050896 C T rs145666904 NLRX1 Synonymous SNV S722S 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 13.89 127586 chr11 119058713 119058713 G A rs200101407 PDZD3 Nonsynonymous SNV R241H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.6 127587 chr10 91143806 91143806 A C rs146689135 IFIT1B Nonsynonymous SNV S246R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.145 127588 chr1 53543413 53543413 C T rs138179023 PODN Synonymous SNV R265R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.69 127589 chr1 15545879 15545879 C T rs748204095 TMEM51 Nonsynonymous SNV T133M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.97 127590 chr8 20028977 20028977 G A rs17092129 SLC18A1 Synonymous SNV Y251Y 0.006 0 0.01 0 7 0 0 3 0 0 0 0 8.9 127591 chr1 53685931 53685931 A C rs1026443979 CZIB 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 127592 chr11 108181006 108181006 A G rs56399311 ATM Nonsynonymous SNV Y1961C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.3 127593 chr8 20107535 20107535 C T rs141033196 LZTS1 Nonsynonymous SNV V497I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.254 127594 chr8 21997034 21997034 G A rs147102913 REEP4 Synonymous SNV D104D 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 1.66 127595 chr1 17597476 17597476 C T rs761993755 PADI3 Nonsynonymous SNV R312C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.3 127596 chr11 116691951 116691951 G A rs751283052 APOA4 Nonsynonymous SNV R275C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 127597 chr8 28929692 28929692 C T rs747214816 KIF13B Nonsynonymous SNV D1555N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 127598 chr11 124310199 124310199 T C rs776875589 OR8B8 Synonymous SNV K261K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 127599 chr1 19549287 19549287 G A rs766175186 EMC1 Synonymous SNV T784T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Likely benign 12.05 127600 chr8 30469967 30469967 A G rs2229299 GTF2E2 Nonsynonymous SNV I133T 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 14.94 127601 chr8 37555726 37555726 C T rs962583895 ZNF703 Nonsynonymous SNV A436V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 127602 chr11 129780538 129780538 G A rs765198059 PRDM10 Nonsynonymous SNV P866L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 127603 chr9 90322027 90322027 C T rs55790757 DAPK1 Synonymous SNV N1347N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 3.693 127604 chr9 90322241 90322241 A C DAPK1 Nonsynonymous SNV T1419P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 127605 chr11 125617691 125617691 C G rs12286611 PATE1 Nonsynonymous SNV A74G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 8.823 127606 chr11 1317004 1317004 C T rs145957069 TOLLIP Synonymous SNV P18P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 18.05 127607 chr11 125766153 125766153 G A rs12274443 PUS3 Synonymous SNV N9N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 0.058 127608 chr11 119229775 119229775 T G rs779308084 USP2 Synonymous SNV T134T 0.003 0 0 0 3 0 0 0 0 0 0 0 3.978 127609 chr11 125769536 125769536 G T rs78786765 HYLS1 Nonsynonymous SNV K91N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 21.2 127610 chr2 29074130 29074130 G A rs781061232 TRMT61B Nonsynonymous SNV R374C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24 127611 chr1 76198337 76198337 G A rs147559466 ACADM Nonsynonymous SNV E7K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 127612 chr8 41522374 41522374 G A rs565535918 ANK1 Synonymous SNV D56D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 14.88 127613 chr8 48650377 48650377 G T rs139462088 CEBPD Synonymous SNV P102P 0 0 0.027 0 0 0 0 8 0 0 0 0 5.886 127614 chr1 77509973 77509973 C A rs768924800 ST6GALNAC5 Nonsynonymous SNV Q116K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 127615 chr9 95481121 95481121 C T rs138300993 BICD2 Synonymous SNV T602T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 5.882 127616 chr11 108128219 108128219 A G rs778320952 ATM Synonymous SNV Q754Q 0 0.003 0 5 0 1 0.013 0 0 0 0 0 Likely benign 1.024 127617 chr9 95874559 95874559 T C rs147126180 CARD19 Nonsynonymous SNV L74P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 127618 chr11 1651547 1651547 C T rs193086302 KRTAP5-5 Synonymous SNV C159C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.951 127619 chr9 131587280 131587280 G A SPOUT1 Stop gain R230X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 127620 chr9 132084169 132084169 C T rs772429749 C9orf106 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.682 127621 chr1 85422123 85422123 C T rs369306344 MCOLN2 Nonsynonymous SNV V186I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 127622 chr9 98270531 98270531 C A rs143494325 PTCH1 Nonsynonymous SNV G38V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 127623 chr1 85656369 85656369 A G rs116136609 SYDE2 Nonsynonymous SNV I271T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.94 127624 chr1 85665973 85665973 A T rs61753619 SYDE2 Nonsynonymous SNV V236D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.802 127625 chr8 57876445 57876445 G A rs34467829 IMPAD1 Synonymous SNV D329D 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 Uncertain significance 5.725 127626 chr1 86822226 86822226 C T rs11810074 ODF2L Synonymous SNV T313T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.59 127627 chrX 105450004 105450004 C T rs41300900 PWWP3B Synonymous SNV C193C 0.007 0.005 0 2 8 2 0.005 0 3 1 0 1 8.877 127628 chr11 1316977 1316977 T C rs146305309 TOLLIP Synonymous SNV T27T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 127629 chrX 106359966 106359966 A G RBM41 Synonymous SNV H13H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.063 127630 chrX 106846066 106846066 C T rs765564425 FRMPD3 Synonymous SNV N1632N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.772 127631 chr11 134027834 134027834 G A rs116394634 NCAPD3 Nonsynonymous SNV T1250M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 6.903 127632 chrX 110973634 110973636 GAA - rs1060503801 ALG13 E633del 0.001 0 0 0 1 0 0 0 0 0 0 0 127633 chrX 111097056 111097056 A C rs752058839 TRPC5 Synonymous SNV L393L 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 0.015 127634 chr11 123894350 123894350 C G rs147760972 OR10G9 Nonsynonymous SNV L211V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 127635 chr11 19954827 19954827 C T rs775808548 NAV2 Nonsynonymous SNV S282L 0.003 0 0 0 3 0 0 0 0 0 0 0 32 127636 chr11 20077340 20077340 G A NAV2 Nonsynonymous SNV M620I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.71 127637 chr1 92187561 92187561 G A TGFBR3 Synonymous SNV Y342Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.023 127638 chr8 80976802 80976802 C T rs35584545 TPD52 Nonsynonymous SNV E56K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 34 127639 chr11 103006653 103006653 G A rs375307767 DYNC2H1 Synonymous SNV L850L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.207 127640 chr11 16824832 16824832 C T rs182918648 PLEKHA7 Nonsynonymous SNV R673Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 127641 chr8 88298861 88298861 T C CNBD1 Nonsynonymous SNV I335T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 127642 chr1 93687495 93687495 C T CCDC18 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 127643 chr8 93728097 93728097 G A rs72677423 FLJ46284 0 0 0.116 0 0 0 0 34 0 0 7 0 1.62 127644 chr2 55403012 55403012 T C CLHC1 Nonsynonymous SNV T353A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.65 127645 chr1 100155326 100155326 A G rs368734785 PALMD Nonsynonymous SNV I504V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.85 127646 chr1 32279633 32279633 T C rs372311437 SPOCD1 Synonymous SNV Q434Q 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.005 127647 chr9 136595242 136595242 G A rs200225875 SARDH Nonsynonymous SNV A253V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.375 127648 chr11 119053001 119053001 G A rs138638352 NLRX1 Synonymous SNV A851A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 15.53 127649 chr1 33237282 33237282 C T rs752402808 KIAA1522 Synonymous SNV D775D 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.12 127650 chrX 137715056 137715056 G A rs374129615 FGF13 Synonymous SNV G231G 0.004 0 0.003 0 5 0 0 1 1 0 0 0 Benign 10.91 127651 chr9 100973075 100973075 G A rs140433248 TBC1D2 Synonymous SNV A52A 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.881 127652 chr11 1093684 1093684 C A MUC2 Nonsynonymous SNV P1835T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 127653 chr1 34663340 34663340 G A rs148742081 C1orf94 Nonsynonymous SNV G279R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 21.7 127654 chr11 2909507 2909507 G A rs146094810 SLC22A18AS Nonsynonymous SNV P119L 0.007 0.008 0.003 2 8 3 0.005 1 1 0 0 0 13.56 127655 chr11 2909573 2909573 G A rs139893801 SLC22A18AS Nonsynonymous SNV T97I 0.007 0.008 0.003 2 8 3 0.005 1 1 0 0 0 16.21 127656 chr2 67631173 67631173 C G ETAA1 Nonsynonymous SNV D453E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.483 127657 chr2 67632077 67632077 A C ETAA1 Nonsynonymous SNV T755P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.441 127658 chr11 129752420 129752420 C T rs570459801 NFRKB Synonymous SNV P361P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.285 127659 chr1 36501799 36501799 A G rs139849193 AGO3 Synonymous SNV P357P 0.003 0 0 3 4 0 0.008 0 0 0 0 0 6.642 127660 chr2 68388829 68388829 C T PNO1 Synonymous SNV T124T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.45 127661 chr1 39340761 39340761 C T rs142530971 GJA9 Nonsynonymous SNV S337N 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 0.222 127662 chr1 110577278 110577278 G T STRIP1 Nonsynonymous SNV G7C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 127663 chr11 34167718 34167718 - A rs369711679 NAT10 Frameshift insertion L949Tfs*16 0.006 0 0.003 0 7 0 0 1 0 0 0 0 127664 chr9 139753259 139753259 C T rs143691384 MAMDC4 Synonymous SNV A970A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 11.04 127665 chr9 112225661 112225661 C T rs145689613 PTPN3 Synonymous SNV S18S 0.001 0 0.017 1 1 0 0.003 5 0 0 0 0 14.83 127666 chr9 114173326 114173326 G C rs780131251 ECPAS Nonsynonymous SNV L771V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.559 127667 chr9 139973030 139973030 C T rs775471036 UAP1L1 Nonsynonymous SNV P191S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.9 127668 chr2 73613035 73613037 GGA - ALMS1 E28del 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 127669 chr11 124495663 124495663 T C rs369332532 TBRG1 Synonymous SNV Y106Y 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.12 127670 chr11 124618540 124618540 C T rs764280149 VSIG2 Nonsynonymous SNV E236K 0 0 0 4 0 0 0.01 0 0 0 0 0 23.2 127671 chr11 28106237 28106237 T C KIF18A Nonsynonymous SNV Y339C 0.003 0 0 0 3 0 0 0 0 0 0 0 26 127672 chrX 17710501 17710501 C G rs143119491 NHS Synonymous SNV P78P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.386 127673 chr11 44102798 44102798 G C rs148926432 ACCS Nonsynonymous SNV A347P 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 24.6 127674 chr9 116356464 116356464 G A RGS3 Nonsynonymous SNV A89T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.724 127675 chr11 44286458 44286458 C T rs149365713 ALX4 Synonymous SNV A394A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Likely benign 14.12 127676 chr9 140356449 140356449 - C rs377090446 PNPLA7 Frameshift insertion R1206Pfs*42 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 127677 chrX 21896786 21896786 C T rs200298161 MBTPS2 Nonsynonymous SNV H413Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 127678 chr11 30032307 30032307 T C rs201531731 KCNA4 Nonsynonymous SNV K640R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.58 127679 chr11 18637499 18637501 TCT - rs66514853 SPTY2D1 K107del 0.008 0.021 0.007 2 9 8 0.005 2 0 0 0 0 127680 chrX 24024661 24024661 G A rs980425880 KLHL15 Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.412 127681 chr11 18765648 18765648 A G rs56234898 PTPN5 Nonsynonymous SNV S42P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 16.63 127682 chrX 27840013 27840013 G A rs151160931 MAGEB10 Nonsynonymous SNV G197D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.036 127683 chrX 2833661 2833661 T C rs2228432 ARSD Synonymous SNV A312A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.165 127684 chr1 145542273 145542273 C T rs142018351 ITGA10 Stop gain Q1024X 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 38 127685 chr11 34668104 34668104 T C rs762001580 EHF Synonymous SNV C72C 0.003 0 0 0 3 0 0 0 0 0 0 0 0.782 127686 chrX 30873245 30873245 C T rs146319957 TAB3 Synonymous SNV P179P 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 Benign 12.56 127687 chr1 146751794 146751794 A G rs782276842 CHD1L Synonymous SNV T341T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.75 127688 chr11 47355294 47355294 G A rs3729799 MYBPC3 Nonsynonymous SNV R1002W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 34 127689 chr11 126162665 126162665 C T rs548742559 TIRAP Nonsynonymous SNV R121W 0 0 0 4 0 0 0.01 0 0 0 0 0 29.5 127690 chr9 119737500 119737500 G C rs202209251 ASTN2 Nonsynonymous SNV P575A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 127691 chr1 150259237 150259237 A T CIART Synonymous SNV P343P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.226 127692 chr1 150525601 150525601 C G ADAMTSL4 Synonymous SNV P102P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.049 127693 chr9 21305048 21305048 G C rs138121530 IFNA5 Nonsynonymous SNV Q70E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 18.57 127694 chr9 21350487 21350487 G A rs61736258 IFNA6 Synonymous SNV L134L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.325 127695 chr9 21409584 21409584 G A rs3739630 IFNA8 Nonsynonymous SNV E137K 0.003 0.005 0.014 1 4 2 0.003 4 0 0 1 0 9.117 127696 chr11 3819194 3819194 A G rs757468946 PGAP2 Nonsynonymous SNV T41A 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 10.55 127697 chr9 21854773 21854773 A G rs150135668 MTAP Synonymous SNV T198T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 1.287 127698 chrX 49127178 49127178 A G PPP1R3F Synonymous SNV T282T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 127699 chrX 49851011 49851011 A G CLCN5 Synonymous SNV T277T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.53 127700 chrX 49957416 49957416 C T AKAP4 Nonsynonymous SNV E650K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 127701 chr9 125563301 125563301 G A rs375810030 OR1K1 Synonymous SNV G300G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.344 127702 chr9 125760964 125760964 C T rs562028379 RABGAP1 Synonymous SNV R431R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 127703 chrX 69354465 69354465 A G rs374026403 IGBP1 Nonsynonymous SNV N94S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 127704 chr1 152800200 152800200 C T rs73021137 LCE1A Synonymous SNV S84S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 6.543 127705 chr1 152856995 152856995 C G rs61744935 SMCP Nonsynonymous SNV Q33E 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.009 127706 chr1 152857102 152857102 G A rs61744941 SMCP Synonymous SNV Q68Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.103 127707 chrX 70389354 70389354 A G rs144914894 NLGN3 Nonsynonymous SNV T612A 0.005 0.003 0.003 4 6 1 0.01 1 2 0 0 1 Benign/Likely benign 0.428 127708 chr9 130488631 130488631 G C rs146364931 TTC16 Nonsynonymous SNV G445A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.3 127709 chr1 62905573 62905573 T C USP1 Nonsynonymous SNV L12P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 17.76 127710 chr1 155014312 155014314 TTC - DCST1 F267del 0.001 0 0 0 1 0 0 0 0 0 0 0 127711 chr11 4869792 4869792 A G rs57238061 OR51S1 Nonsynonymous SNV L216S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.4 127712 chr9 71836037 71836037 C T rs200390074 TJP2 Nonsynonymous SNV R197W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28 127713 chr11 4870064 4870064 G A rs143546045 OR51S1 Synonymous SNV A125A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.135 127714 chr9 132904236 132904236 G A rs200164309 GPRACR 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 127715 chr9 132904438 132904438 T C rs567632352 GPRACR 0 0 0.003 0 0 0 0 1 0 0 0 0 1.07 127716 chr11 4944728 4944728 A G rs79536656 OR51G1 Nonsynonymous SNV V281A 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 11.72 127717 chr11 4945539 4945539 T C rs61732340 OR51G1 Nonsynonymous SNV R11G 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.096 127718 chr11 4615905 4615905 T C rs146674516 OR52I1 Nonsynonymous SNV S213P 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 19.12 127719 chr11 46726612 46726612 G T rs150894525 ZNF408 Synonymous SNV L446L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.064 127720 chr1 156917216 156917216 G A rs368545602 ARHGEF11 Synonymous SNV L750L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.471 127721 chr2 128941252 128941252 A C rs754519276 UGGT1 Synonymous SNV A1416A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.449 127722 chr9 135930346 135930346 C A rs114790397 GTF3C5 Nonsynonymous SNV L395M 0.001 0 0.017 0 1 0 0 5 0 0 0 0 0.968 127723 chr9 136513125 136513125 C A DBH Stop gain C394X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 127724 chr1 87045908 87045908 - CCTACT CLCA4 P887_D888insTP 0 0 0 1 0 0 0.003 0 0 0 0 0 127725 chr11 17663704 17663704 C T rs948010343 OTOG Nonsynonymous SNV R2788C 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 32 127726 chr11 4824902 4824902 G A rs370671099 OR52R1 Nonsynonymous SNV R237C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 127727 chr11 48285839 48285839 G A rs141012609 OR4X1 Nonsynonymous SNV V143M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 14.62 127728 chr9 96846910 96846910 G A rs373153793 PTPDC1 Nonsynonymous SNV R33Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.1 127729 chr9 139221734 139221734 C T rs192533034 DKFZP434A062 0 0 0.007 0 0 0 0 2 0 0 0 0 6.311 127730 chr10 121569641 121569641 G A rs149552983 INPP5F Synonymous SNV K533K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.58 127731 chr2 158115535 158115535 A C rs758291734 GALNT5 Nonsynonymous SNV K314T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.8 127732 chr2 158399348 158399348 T G ACVR1C Nonsynonymous SNV I167L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 16.1 127733 chr10 122659620 122659620 T G WDR11 Nonsynonymous SNV N865K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.39 127734 chr2 159517931 159517931 C T rs11539803 PKP4 Nonsynonymous SNV T727M 0.009 0.003 0.003 3 11 1 0.008 1 0 0 0 0 24.3 127735 chr1 167798559 167798559 G A rs61738852 ADCY10 Synonymous SNV H1079H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.023 127736 chr1 167802276 167802276 T C rs116510137 ADCY10 Nonsynonymous SNV N1028S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.605 127737 chr9 140247076 140247076 C T rs141126990 EXD3 Nonsynonymous SNV G345R 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 20.2 127738 chr1 168066251 168066251 G A rs34833557 GPR161 Synonymous SNV L120L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.702 127739 chr11 2424441 2424441 C T rs142422317 TSSC4 Nonsynonymous SNV A193V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.101 127740 chr1 169823521 169823521 C T rs55788990 SCYL3 Nonsynonymous SNV A633T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.2 127741 chr9 17309178 17309178 A G rs750940551 CNTLN Synonymous SNV K423K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.324 127742 chr1 170001034 170001034 T C rs36022648 KIFAP3 Synonymous SNV L234L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.272 127743 chr9 20414341 20414343 CTA - rs767180736 MLLT3 S187del 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 127744 chr9 20414365 20414376 CTGCTGCTGCTA - MLLT3 S184_S187del 0 0 0.003 0 0 0 0 1 0 0 0 0 127745 chr11 290505 290505 G A rs557163083 PGGHG Synonymous SNV P125P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.989 127746 chr2 169713209 169713209 G A rs148719799 NOSTRIN Nonsynonymous SNV R297Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 21.5 127747 chr1 111773483 111773483 G A rs140943629 CHI3L2 Nonsynonymous SNV A54T 0.002 0.003 0 7 2 1 0.018 0 0 0 0 0 27 127748 chr9 35733406 35733406 T C rs138981526 CREB3 Nonsynonymous SNV L120P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 127749 chr9 36083483 36083483 C T rs371411958 RECK Synonymous SNV C187C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 127750 chr1 183095306 183095306 C T rs370176031 LAMC1 Synonymous SNV T951T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 127751 chr2 179611687 179611687 T A rs751794801 TTN Nonsynonymous SNV H5147L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.118 127752 chr1 185108666 185108666 T C rs200054741 TRMT1L Synonymous SNV A229A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.832 127753 chr11 46748107 46748107 G A rs371085757 F2 Nonsynonymous SNV E312K 0.002 0 0 0 2 0 0 0 0 0 0 0 2.358 127754 chr9 72333556 72333556 G A rs377203202 PTAR1 Nonsynonymous SNV P252L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 127755 chr1 197396854 197396854 T C CRB1 Nonsynonymous SNV I688T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 127756 chr9 77684860 77684860 C G rs35472028 NMRK1 Nonsynonymous SNV E90Q 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 12.37 127757 chr11 4945513 4945513 G A rs566373734 OR51G1 Synonymous SNV F19F 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 1.398 127758 chr1 151413525 151413525 G A rs374145381 POGZ Synonymous SNV P54P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 11.42 127759 chr9 88248077 88248077 A T rs758791064 AGTPBP1 Nonsynonymous SNV N557K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 127760 chr1 201860679 201860679 C T rs149319193 SHISA4 Nonsynonymous SNV P177L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 127761 chr9 94949057 94949057 C G rs75298708 PRSS47 Nonsynonymous SNV G197R 0 0 0.014 0 0 0 0 4 0 0 0 0 16.21 127762 chr9 95027812 95027812 C T rs762169026 IARS Synonymous SNV A485A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 127763 chr9 96021298 96021298 C T rs370035213 WNK2 Nonsynonymous SNV A823V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 127764 chr2 201303944 201303944 A C rs377194537 SPATS2L Nonsynonymous SNV E122A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.4 127765 chr11 5462001 5462001 A G rs759197332 OR51I1 Synonymous SNV C248C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.173 127766 chrX 100502133 100502133 G A rs868585753 DRP2 Nonsynonymous SNV R333K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 127767 chr10 34805971 34805971 G C rs41276096 PARD3 Synonymous SNV V113V 0.009 0.031 0.003 0 10 12 0 1 0 0 0 0 0.376 127768 chrX 7177559 7177559 C A rs376588996 STS Synonymous SNV P184P 0.01 0.003 0 3 12 1 0.008 0 1 0 0 1 7.77 127769 chrX 102973915 102973915 G A rs41306269 GLRA4 Nonsynonymous SNV P335S 0 0 0.01 0 0 0 0 3 0 0 0 0 9.506 127770 chr1 154842199 154842199 - GCT rs3831942 KCNN3 Q80_P81insQ 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 127771 chrX 106844524 106844524 C T rs766873031 FRMPD3 Synonymous SNV G1118G 0 0 0.007 0 0 0 0 2 0 0 0 0 12.75 127772 chrX 114427033 114427033 G A rs782732760 RBMXL3 Nonsynonymous SNV R1010H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 127773 chr1 1275469 1275469 G A rs142495951 DVL1 Synonymous SNV G286G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.767 127774 chrX 140993980 140993980 G C rs176042 MAGEC1 Nonsynonymous SNV A264P 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.037 127775 chrX 140993991 140993991 T A rs146036055 MAGEC1 Synonymous SNV S267S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 127776 chrX 140994320 140994320 G T rs7063168 MAGEC1 Nonsynonymous SNV G377V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.007 127777 chrX 14262864 14262864 G A rs2074005 UBE2E4P 0 0 0.088 0 0 0 0 26 0 0 8 0 6.857 127778 chrX 148037370 148037370 C T rs373295539 AFF2 Nonsynonymous SNV R240W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 127779 chr10 61815451 61815451 G A rs748449445 ANK3 Nonsynonymous SNV H968Y 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.1 127780 chr11 62455878 62455878 C T LRRN4CL Nonsynonymous SNV E35K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 13.04 127781 chr11 58979894 58979894 G A rs199971720 MPEG1 Stop gain R149X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 127782 chr11 62488883 62488883 C T rs542954017 HNRNPUL2 Nonsynonymous SNV E499K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23.6 127783 chrX 153670772 153670772 C T GDI1 Synonymous SNV S396S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.037 127784 chr10 70166521 70166521 G A rs761087515 RUFY2 Synonymous SNV R33R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.288 127785 chrX 15841230 15841230 - AGCCGG rs752736259 ZRSR2 R448_R449insSR 0.007 0.003 0.027 1 8 1 0.003 8 2 0 2 0 127786 chr1 226574085 226574085 T C rs376329145 PARP1 Nonsynonymous SNV N259S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 127787 chrX 20154346 20154346 C G rs73447108 SCARNA9L 0 0 0.071 0 0 0 0 21 0 0 5 0 0.034 127788 chr11 64326676 64326676 G A rs61744144 SLC22A11 Nonsynonymous SNV V155M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.31 127789 chr1 162302808 162302808 A G rs759642153 NOS1AP Nonsynonymous SNV I111V 0 0 0 3 0 0 0.008 0 0 0 0 0 23.6 127790 chr11 64361122 64361122 C T rs145738825 SLC22A12 Nonsynonymous SNV A192V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.75 127791 chr11 64577147 64577147 G A rs61736636 MEN1 Synonymous SNV S145S 0.012 0.01 0.014 1 14 4 0.003 4 0 0 0 0 Benign 11.53 127792 chrX 41076554 41076554 G C USP9X Nonsynonymous SNV G2056A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 127793 chr11 609217 609217 C T rs77409873 PHRF1 Nonsynonymous SNV P1254L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 127794 chr11 64854546 64854546 G C ZFPL1 Nonsynonymous SNV A210P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 127795 chr10 76789389 76789389 G A rs142688976 KAT6B Nonsynonymous SNV V822I 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Uncertain significance 26.9 127796 chr10 78651385 78651385 G A rs45586138 KCNMA1 Synonymous SNV N972N 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.067 127797 chr1 171300907 171300907 C T rs373804650 FMO4 Stop gain R205X 0.001 0 0 3 1 0 0.008 0 0 0 0 0 36 127798 chr1 229790016 229790016 A G rs766482183 URB2 Nonsynonymous SNV T1420A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 127799 chr11 6561212 6561212 T C rs758774031 DNHD1 Nonsynonymous SNV V1176A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 127800 chr1 230840034 230840034 G T rs1805090 AGT Nonsynonymous SNV L392M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 127801 chrX 55650721 55650721 C A rs755806975 FOXR2 Nonsynonymous SNV P193T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.02 127802 chr1 231114532 231114532 G A rs544938549 TTC13 Synonymous SNV G15G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 127803 chr1 231506343 231506343 G A rs143991968 EGLN1 Synonymous SNV R371R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.61 127804 chr11 62520823 62520823 T A rs967668075 ZBTB3 Nonsynonymous SNV Y105F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 127805 chr1 233489674 233489674 C A rs759012065 MAP3K21 Nonsynonymous SNV P370T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 127806 chrX 70674054 70674054 G A TAF1 Synonymous SNV E1616E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 127807 chr11 65735168 65735168 C T rs143607098 SART1 Nonsynonymous SNV P483L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.258 127808 chr11 5799313 5799313 G A rs141267147 OR52N5 Synonymous SNV S184S 0.003 0.003 0 5 4 1 0.013 0 1 0 0 1 7.298 127809 chr1 235338597 235338597 T C rs147900250 ARID4B Nonsynonymous SNV Q1103R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 127810 chrX 73062319 73062319 G A rs142303653 XIST 0 0 0.014 0 0 0 0 4 0 0 1 0 1.499 127811 chr1 235577776 235577776 C T rs62620041 TBCE Nonsynonymous SNV P72S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 25 127812 chr1 235594028 235594028 A C rs150592371 TBCE Nonsynonymous SNV K77T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 127813 chrX 77267053 77267053 A G ATP7A Nonsynonymous SNV Q685R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.761 127814 chr11 66626315 66626315 G A LRFN4 Nonsynonymous SNV R367Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.58 127815 chr1 237774219 237774219 G A rs746943081 RYR2 Nonsynonymous SNV R1614H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24 127816 chr1 178491470 178491470 T G rs753327874 TEX35 Synonymous SNV P199P 0 0 0 3 0 0 0.008 0 0 0 0 0 0.345 127817 chr11 67235538 67235538 G A rs111720396 TMEM134 Nonsynonymous SNV A67V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.5 127818 chr1 241846867 241846867 C T rs372317072 WDR64 Stop gain R235X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 127819 chr1 182354595 182354595 C T rs1054866971 GLUL Nonsynonymous SNV V234M 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 28.9 127820 chr11 60107377 60107377 G A rs146311025 MS4A6E Synonymous SNV E131E 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 0.246 127821 chr1 247607422 247607422 G A rs201260331 NLRP3 Nonsynonymous SNV D826N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.834 127822 chr10 102763502 102763502 C T rs748443070 LZTS2 Nonsynonymous SNV T216M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 127823 chr10 102768479 102768479 G T rs905399722 PDZD7 Synonymous SNV V949V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 127824 chr11 64889038 64889038 C T FAU Nonsynonymous SNV A52T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 127825 chr10 104171984 104171984 G A rs145791657 PSD Synonymous SNV N583N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 127826 chr11 64981592 64981592 C T rs925425133 SLC22A20P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.124 127827 chr10 104445579 104445579 G A rs547067319 ARL3 Synonymous SNV G165G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 127828 chr11 65306909 65306911 TCC - LTBP3 E1052del 0.001 0 0 0 1 0 0 0 0 0 0 0 127829 chr1 186120775 186120775 C T rs770528253 HMCN1 Synonymous SNV P4932P 0 0 0 3 0 0 0.008 0 0 0 0 0 16.4 127830 chr1 186301436 186301436 C T rs115482159 TPR Nonsynonymous SNV R1832H 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 Likely benign 29.3 127831 chr1 186321206 186321206 G C TPR Nonsynonymous SNV L791V 0 0 0 3 0 0 0.008 0 0 0 0 0 22.9 127832 chr11 609387 609387 C T rs748187710 PHRF1 Nonsynonymous SNV P1311S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.305 127833 chr1 248059078 248059078 G A rs61752499 OR2W3 Nonsynonymous SNV A64T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.47 127834 chr11 73074840 73074840 C T rs144505096 ARHGEF17 Synonymous SNV S1765S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 127835 chr11 100806953 100806953 G A ARHGAP42 Nonsynonymous SNV S241N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 31 127836 chr10 115400076 115400076 A G rs76861484 NRAP Synonymous SNV A411A 0.007 0.018 0.003 6 8 7 0.015 1 0 0 0 0 Benign 6.691 127837 chr10 116014752 116014752 G T rs149309552 VWA2 Nonsynonymous SNV R69M 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 31 127838 chr1 202729621 202729621 A G rs145759381 KDM5B Synonymous SNV S288S 0 0 0 3 0 0 0.008 0 0 0 0 0 11.07 127839 chr10 119793531 119793531 T C rs534001475 RAB11FIP2 Synonymous SNV A429A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.643 127840 chr1 202894153 202894153 G T rs931596027 KLHL12 Synonymous SNV A84A 0 0 0 3 0 0 0.008 0 0 0 0 0 2.712 127841 chr2 1843130 1843130 G A rs59128763 MYT1L Synonymous SNV P957P 0.009 0.01 0 11 11 4 0.028 0 0 0 0 0 9.777 127842 chr2 9683364 9683364 T C rs61754178 ADAM17 Nonsynonymous SNV I50V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 17.73 127843 chr10 123688004 123688004 C A ATE1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 127844 chr10 123954657 123954657 C T rs138045107 TACC2 Synonymous SNV P57P 0 0 0.007 0 0 0 0 2 0 0 0 0 18.63 127845 chr1 204379884 204379884 A C PPP1R15B Nonsynonymous SNV V219G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.6 127846 chr11 64600177 64600177 G A rs146961448 CDC42BPG Synonymous SNV R968R 0.002 0.005 0 6 2 2 0.015 0 0 0 0 0 15.19 127847 chr11 82888182 82888182 A G rs140586284 PCF11 Synonymous SNV E1402E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 10.32 127848 chr11 799432 799432 G A rs139695620 PIDD1 Nonsynonymous SNV R870C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 127849 chr11 799962 799962 G A rs776336054 PIDD1 Nonsynonymous SNV P776L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.9 127850 chr11 8122100 8122100 C T rs748165119 TUB Synonymous SNV V389V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.29 127851 chr2 11810025 11810025 G A rs146548287 NTSR2 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 127852 chr11 58275343 58275343 G A rs777767732 OR5B21 Nonsynonymous SNV T79M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 127853 chr11 71725227 71725227 G C NUMA1 Nonsynonymous SNV Q1108E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 127854 chr11 85445199 85445199 C T rs370756412 SYTL2 Synonymous SNV S390S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.48 127855 chr11 85459466 85459466 T G rs750442544 SYTL2 Nonsynonymous SNV R34S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 22.8 127856 chr11 85988159 85988159 T C EED Synonymous SNV F288F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 3.524 127857 chr11 58891874 58891874 A G FAM111B Nonsynonymous SNV K72E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 127858 chr11 1025899 1025899 T C MUC6 Nonsynonymous SNV N902S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.318 127859 chr1 208204985 208204985 G A rs766991936 PLXNA2 Synonymous SNV D1725D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.82 127860 chr11 9113005 9113005 - GCGGCAGCA rs758107958 SCUBE2 P23_P24insLLP 0.002 0 0 1 2 0 0.003 0 0 0 0 0 127861 chr11 8947031 8947031 C T C11orf16 Nonsynonymous SNV E395K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.3 127862 chr10 133608287 133608287 G T rs189073666 LINC01164 0 0 0.01 0 0 0 0 3 0 0 0 0 8.958 127863 chr10 133930835 133930835 G A rs371619151 JAKMIP3 Synonymous SNV K130K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.18 127864 chr11 9087462 9087462 G A rs138716223 SCUBE2 Nonsynonymous SNV R276W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 34 127865 chr1 38230728 38230728 C T EPHA10 Nonsynonymous SNV C4Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.42 127866 chr11 93797627 93797627 T C HEPHL1 Synonymous SNV D253D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 127867 chr11 107506399 107506399 G A rs202156688 ELMOD1 Nonsynonymous SNV V110I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.3 127868 chr2 27320515 27320515 G A rs41288797 KHK Nonsynonymous SNV V188M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 27.6 127869 chr10 135026250 135026250 G A rs374825725 KNDC1 Nonsynonymous SNV G1423R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 127870 chr11 67075334 67075334 A G SSH3 Nonsynonymous SNV Q270R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.959 127871 chr11 111175667 111175667 C T rs979007880 COLCA2 Synonymous SNV S39S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.161 127872 chr2 28761981 28761981 G A rs6753929 PLB1 Nonsynonymous SNV V223I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 127873 chr10 15106405 15106405 G A rs771172422 OLAH Nonsynonymous SNV M102I 0 0 0.007 0 0 0 0 2 0 0 0 0 22 127874 chr12 10342631 10342631 A G rs77905236 TMEM52B Synonymous SNV T128T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 127875 chr12 10342736 10342736 C A rs78737759 TMEM52B Nonsynonymous SNV N163K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.911 127876 chr10 16982150 16982150 C T rs149622438 CUBN Nonsynonymous SNV R1810Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 127877 chr12 102302125 102302125 C T rs201328131 DRAM1 Synonymous SNV C168C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.38 127878 chr11 69588081 69588081 A G rs766932837 FGF4 Nonsynonymous SNV L206P 0 0 0 6 0 0 0.015 0 0 0 0 0 28.1 127879 chr11 70013431 70013431 G A rs764791417 ANO1 Nonsynonymous SNV R712Q 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 23.7 127880 chr2 42553349 42553349 T A rs139256814 EML4 Synonymous SNV I708I 0.003 0.005 0.003 1 3 2 0.003 1 0 1 0 0 15.77 127881 chr11 118926551 118926551 T C rs782248773 HYOU1 Synonymous SNV T32T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.007 127882 chr11 119005074 119005074 G A rs148562677 HINFP Nonsynonymous SNV G268S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 24.7 127883 chr11 64064956 64064956 G A rs2232415 KCNK4 Synonymous SNV P164P 0.014 0.005 0 3 16 2 0.008 0 0 0 0 0 7.208 127884 chr10 28578230 28578230 A - rs760473336 MIR8086 0 0 0.007 0 0 0 0 2 0 0 0 0 127885 chr10 292877 292877 G A rs773005315 ZMYND11 Synonymous SNV E272E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 127886 chr12 111800893 111800893 G A rs149821358 PHETA1 Synonymous SNV F113F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 127887 chr11 11927026 11927026 A T rs749433429 USP47 Synonymous SNV R126R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.382 127888 chr2 44174455 44174455 C T rs149243712 LRPPRC Nonsynonymous SNV E674K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Uncertain significance 21.7 127889 chr2 44993608 44993608 T G rs770717307 CAMKMT Nonsynonymous SNV L268V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 127890 chr11 93913338 93913338 G A rs191847249 PANX1 Nonsynonymous SNV M372I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 127891 chr1 230827305 230827305 G A rs140155560 COG2 Nonsynonymous SNV E703K 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Likely benign 20.3 127892 chr12 110011218 110011218 C T rs767706407 MMAB Nonsynonymous SNV G23D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.3 127893 chr12 110206253 110206253 C T rs748418351 FAM222A Synonymous SNV P173P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 127894 chr12 114282521 114282521 C T rs150724878 RBM19 Nonsynonymous SNV E913K 0.002 0 0 0 2 0 0 0 0 0 0 0 35 127895 chr1 231403639 231403639 C T rs770022260 GNPAT Synonymous SNV L362L 0.002 0 0 4 2 0 0.01 0 0 0 0 0 10.47 127896 chr12 112747394 112747394 T C rs751110758 HECTD4 Synonymous SNV K332K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.231 127897 chr11 76814096 76814096 G A rs782325915 OMP Nonsynonymous SNV V71M 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 2.113 127898 chr11 76829367 76829367 A G CAPN5 Nonsynonymous SNV N379S 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 28.7 127899 chr10 45959747 45959747 G A rs149961802 MARCHF8 Nonsynonymous SNV P61L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 127900 chr1 236154308 236154308 C T rs147031904 NID1 Nonsynonymous SNV A936T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 13.18 127901 chr12 120784088 120784088 C T rs752572335 MSI1 Synonymous SNV S299S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.62 127902 chr1 57378134 57378134 G A rs373473282 C8A Nonsynonymous SNV R480H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 127903 chr11 7847047 7847047 G T rs16932503 OR5P3 Nonsynonymous SNV T158K 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 22.8 127904 chr11 7847458 7847458 G A rs61742097 OR5P3 Nonsynonymous SNV T21I 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 12.76 127905 chr12 101750386 101750386 G A rs76752752 UTP20 Nonsynonymous SNV E1817K 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 34 127906 chr2 68384437 68384437 G C WDR92 Nonsynonymous SNV Q47E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 127907 chr12 124212422 124212422 C T rs143802431 ATP6V0A2 Nonsynonymous SNV A205V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 127908 chr11 85576209 85576209 G A rs142636291 CCDC83 Nonsynonymous SNV G15R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.13 127909 chr12 106633456 106633456 G A rs371266776 CKAP4 Synonymous SNV H385H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 127910 chr11 1253691 1253691 C T rs56411917 MUC5B Nonsynonymous SNV R619W 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 22.7 127911 chr12 124288273 124288273 A G DNAH10 Nonsynonymous SNV I776V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.149 127912 chr12 107155117 107155117 C T rs74504747 RFX4 Nonsynonymous SNV A599V 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 23.1 127913 chr12 108145622 108145622 A G rs771894530 PRDM4 Synonymous SNV H232H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.501 127914 chr12 123950117 123950117 G C rs147624998 SNRNP35 Nonsynonymous SNV E10D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.54 127915 chr11 6662255 6662255 G A rs145099391 DCHS1 Nonsynonymous SNV P197L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 127916 chr1 78098284 78098284 G C rs777954694 ZZZ3 Nonsynonymous SNV F252L 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 0.729 127917 chr2 74653451 74653451 G C RTKN Synonymous SNV P537P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 127918 chr2 74729944 74729944 C G rs200875884 LBX2 Nonsynonymous SNV G15R 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 8.305 127919 chr10 60150617 60150617 G A rs371492198 TFAM Synonymous SNV P178P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.41 127920 chr11 67218787 67218787 G A rs137906019 GPR152 Nonsynonymous SNV T470M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 127921 chr12 12483030 12483030 C T rs75750739 MANSC1 Synonymous SNV S409S 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 11.84 127922 chr12 110224547 110224547 C G rs138986228 TRPV4 Synonymous SNV S661S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.532 127923 chr10 65379517 65379517 C T rs371406997 REEP3 Nonsynonymous SNV S223L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 127924 chr2 85836690 85836690 G A rs186499615 C2orf68 Synonymous SNV R82R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 127925 chr10 71007235 71007235 A G rs755230182 HKDC1 Nonsynonymous SNV N384S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 127926 chr11 1605740 1605740 G C rs141196473 KRTAP5-1 Stop gain S247X 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 34 127927 chr12 132549293 132549293 G A rs77075957 EP400 Synonymous SNV P2805P 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 Benign 12.78 127928 chr10 72020426 72020426 A T NPFFR1 Nonsynonymous SNV V131D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 127929 chr2 3743870 3743870 G T rs200086179 ALLC Nonsynonymous SNV G225C 0.003 0.005 0.003 11 4 2 0.028 1 0 0 0 0 23.5 127930 chr11 72533261 72533261 C T rs767460946 ATG16L2 Nonsynonymous SNV R83C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 34 127931 chr10 73330584 73330584 A C rs766721575 CDH23 Nonsynonymous SNV N221T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 19.75 127932 chr2 10942702 10942702 G A rs7568342 PDIA6 Synonymous SNV I28I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.1 127933 chr10 75148091 75148091 G A rs370894790 ANXA7 Nonsynonymous SNV R133C 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 34 127934 chr12 21526367 21526367 T C rs138036034 IAPP 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.3 127935 chr12 1902901 1902901 C T rs755690994 CACNA2D4 Nonsynonymous SNV A1112T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 13.67 127936 chr12 109519189 109519189 C T rs78885554 USP30 Synonymous SNV A257A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 21.2 127937 chr2 103324715 103324715 G C rs566603171 SLC9A2 Nonsynonymous SNV D736H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.425 127938 chr12 25170185 25170185 G A rs115982863 LOC645177 Synonymous SNV Q382Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.94 127939 chr2 105885942 105885942 G A rs201216017 TGFBRAP1 Synonymous SNV H731H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.864 127940 chr1 109242248 109242248 A G PRPF38B Nonsynonymous SNV K271R 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 4.558 127941 chr11 20948870 20948870 C A rs561118555 NELL1 Nonsynonymous SNV T202K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 21.3 127942 chr12 124798811 124798811 G A rs78753849 RFLNA, ZNF664-RFLNA Nonsynonymous SNV V131I 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 24.1 127943 chr2 24344072 24344072 T G rs142176262 PFN4 Nonsynonymous SNV R72S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 24.3 127944 chr11 2191931 2191931 G A rs752043690 TH Nonsynonymous SNV P58S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.002 127945 chr11 2339111 2339111 G A rs140477675 TSPAN32 Nonsynonymous SNV R307H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.986 127946 chr3 120315283 120315283 C T rs150031407 NDUFB4 Nonsynonymous SNV S26F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 127947 chr12 112194206 112194206 C T rs775196004 ACAD10 Nonsynonymous SNV R1037C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 25.9 127948 chr12 129180552 129180552 G A rs545244877 TMEM132C Synonymous SNV L611L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.26 127949 chr11 82895889 82895889 A C rs771502964 PCF11 Nonsynonymous SNV T1672P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.7 127950 chr12 3757682 3757682 G A CRACR2A Synonymous SNV L382L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 2.107 127951 chr10 91195888 91195888 G C rs145362501 SLC16A12 Nonsynonymous SNV S406C 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 23.1 127952 chr2 114493367 114493367 T A rs148152519 SLC35F5 Nonsynonymous SNV L267F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.7 127953 chr12 130921814 130921814 G A rs530744461 RIMBP2 Nonsynonymous SNV T543M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.2 127954 chr11 85436802 85436802 A T rs773177233 SYTL2 Nonsynonymous SNV V1200D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.445 127955 chr1 111060952 111060952 C T rs373944479 KCNA10 Nonsynonymous SNV R153H 0.007 0.008 0 0 8 3 0 0 0 0 0 0 32 127956 chr12 39047850 39047850 A G rs769617735 CPNE8 Nonsynonymous SNV I510T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.76 127957 chr2 128186297 128186297 T C rs148855579 PROC Synonymous SNV C387C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 0.343 127958 chr2 128938522 128938522 A G rs747421699 UGGT1 Nonsynonymous SNV K1320R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 127959 chr11 31815285 31815285 C T rs149053004 PAX6 Synonymous SNV Q76Q 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 127960 chr2 131673732 131673732 G A ARHGEF4 Nonsynonymous SNV R738H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.494 127961 chr12 45410274 45410274 A G DBX2 Nonsynonymous SNV F272S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 23.1 127962 chr11 33667578 33667578 G A rs151191172 KIAA1549L Nonsynonymous SNV R1919Q 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 27.2 127963 chr12 4854629 4854629 C T rs777097267 GALNT8 Nonsynonymous SNV R299C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 127964 chr12 4881610 4881610 G T rs202114202 GALNT8 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 127965 chr11 3681309 3681309 G A rs138825846 ART1 Nonsynonymous SNV R187Q 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 10.85 127966 chr12 16053885 16053885 A C rs375283378 STRAP Nonsynonymous SNV E310D 0.003 0 0 0 3 0 0 0 0 0 0 0 16.35 127967 chr2 36818109 36818109 T C rs117617575 FEZ2 Synonymous SNV V104V 0 0 0.007 2 0 0 0.005 2 0 0 0 0 16.15 127968 chr12 18891846 18891846 T C CAPZA3 Nonsynonymous SNV I215T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 127969 chr2 39156935 39156935 A G ARHGEF33 Nonsynonymous SNV Q109R 0 0 0 3 0 0 0.008 0 0 0 0 0 21.6 127970 chr2 149829919 149829919 C A rs761630242 KIF5C Nonsynonymous SNV T396N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 127971 chr1 145537513 145537513 C A rs116524970 ITGA10 Nonsynonymous SNV S698R 0.009 0.005 0 6 10 2 0.015 0 0 0 0 0 17.18 127972 chr2 45233404 45233415 CTGGCACCGGCA - rs780245216 SIX2 V257_P260del 0 0 0 3 0 0 0.008 0 0 0 0 0 127973 chr11 4615722 4615722 G A rs758198757 OR52I1 Nonsynonymous SNV V152I 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 0.001 127974 chr12 5155046 5155046 G A rs12720445 KCNA5 Nonsynonymous SNV R578K 0.001 0.01 0.007 0 1 4 0 2 0 0 0 0 Benign 8.59 127975 chr2 157369910 157369910 G T rs147181566 GPD2 Nonsynonymous SNV C188F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 127976 chr11 46747692 46747692 C T rs147699032 F2 Synonymous SNV G281G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.75 127977 chr12 104097038 104097038 A T STAB2 Nonsynonymous SNV D1276V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.29 127978 chr12 104336494 104336494 A G rs548726780 HSP90B1 Nonsynonymous SNV T522A 0.003 0 0 0 3 0 0 0 0 0 0 0 20.8 127979 chr1 152280691 152280691 A T rs117945779 FLG Nonsynonymous SNV L2224Q 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 9.314 127980 chr11 1024909 1024909 G A rs200255910 MUC6 Nonsynonymous SNV R1054C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 127981 chr12 133147041 133147041 C T FBRSL1 Synonymous SNV H376H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.27 127982 chr12 32793315 32793315 G A rs61753359 FGD4 Nonsynonymous SNV V533M 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 127983 chr12 40866942 40866942 G A MUC19 0.001 0 0 0 1 0 0 0 0 0 0 0 9.738 127984 chr11 10647775 10647775 G A MRVI1 Nonsynonymous SNV P54L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.155 127985 chr12 42631962 42631962 G A rs377532776 YAF2 Synonymous SNV P7P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.54 127986 chr2 71012658 71012658 C T rs76112949 FIGLA Synonymous SNV L166L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.18 127987 chr11 108350222 108350222 A G POGLUT3 Nonsynonymous SNV Y229H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 127988 chr12 15650262 15650262 G A rs551711163 PTPRO Nonsynonymous SNV E145K 0 0 0 3 0 0 0.008 0 0 0 0 0 25.3 127989 chr11 111384423 111384423 T G rs114807289 LOC728196 0 0 0.014 0 0 0 0 4 0 0 0 0 0.713 127990 chr2 71797818 71797818 C T rs144598063 DYSF Nonsynonymous SNV R1027C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 35 127991 chr12 113433255 113433255 C T rs766255329 OAS2 Synonymous SNV L201L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.26 127992 chr12 49168830 49168830 C T rs372694335 ADCY6 Nonsynonymous SNV R663Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 127993 chr12 49217172 49217172 G A rs746949542 CACNB3 Nonsynonymous SNV V31I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 127994 chr12 49445414 49445414 A T rs200116899 KMT2D Synonymous SNV P684P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 0.213 127995 chr12 49485171 49485171 - GCTG DHH Frameshift insertion R102Pfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 127996 chr12 49717667 49717667 C T rs780105914 TROAP Nonsynonymous SNV L62F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.286 127997 chr11 115080311 115080311 - TGG rs755026097 CADM1 T353_I354insT 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 127998 chr11 117063891 117063891 C T rs142171036 SIDT2 Nonsynonymous SNV R710C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 127999 chr2 86260824 86260824 T C POLR1A Nonsynonymous SNV Q1374R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.35 128000 chr12 50232719 50232719 C T rs200103513 BCDIN3D Nonsynonymous SNV R105H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 128001 chr12 118533560 118533560 T A rs377175913 VSIG10 Nonsynonymous SNV I47F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.76 128002 chr12 50347967 50347967 G C rs139064235 AQP2 Synonymous SNV A130A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.28 128003 chr11 117342712 117342712 G A DSCAML1 Nonsynonymous SNV P942L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 128004 chr12 120241159 120241159 G A rs777108668 CIT Synonymous SNV D382D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.172 128005 chr12 2933355 2933355 C A rs767347515 ITFG2 Nonsynonymous SNV T447N 0 0 0 3 0 0 0.008 0 0 0 0 0 23.1 128006 chr11 119052818 119052818 G A NLRX1 Synonymous SNV P790P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.412 128007 chr12 51754584 51754584 T C rs759204308 GALNT6 Nonsynonymous SNV K363R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 128008 chr12 64827292 64827292 T C rs749879025 XPOT Synonymous SNV A787A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.337 128009 chr11 120998747 120998747 C G rs139165033 TECTA Nonsynonymous SNV N687K 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 24.1 128010 chr1 160001350 160001350 G A rs41265753 PIGM Synonymous SNV R60R 0.014 0.016 0.01 9 16 6 0.023 3 0 0 0 0 1.465 128011 chr2 99181139 99181139 A G INPP4A Nonsynonymous SNV R639G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 128012 chr12 32895654 32895654 G A rs776702636 DNM1L Nonsynonymous SNV R506H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 34 128013 chr2 190306244 190306244 T C rs369077081 WDR75 Nonsynonymous SNV V9A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 128014 chr12 122675964 122675964 C T rs377347927 LRRC43 Synonymous SNV I313I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.3 128015 chr12 122676079 122676079 G A rs116650890 LRRC43 Nonsynonymous SNV G352S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.593 128016 chr12 122685139 122685139 A G rs79635862 LRRC43 Nonsynonymous SNV K518E 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.015 128017 chr11 12316030 12316030 G A rs139581842 MICALCL Nonsynonymous SNV R351Q 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 19.68 128018 chr2 190718719 190718719 C T PMS1 Nonsynonymous SNV P117S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 128019 chr12 122720423 122720423 G A rs34461198 VPS33A Synonymous SNV A343A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.672 128020 chr12 41387065 41387065 G A rs370161709 CNTN1 Nonsynonymous SNV G692S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Uncertain significance 26.5 128021 chr12 122734427 122734427 T G rs34996966 VPS33A Nonsynonymous SNV I245L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.5 128022 chr2 191125911 191125911 C G rs74832989 HIBCH Nonsynonymous SNV C163S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 18.43 128023 chr12 57872374 57872374 G A rs145600928 ARHGAP9 Synonymous SNV S161S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.934 128024 chr12 57872983 57872983 A C rs58668629 ARHGAP9 Synonymous SNV A69A 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 6.757 128025 chr2 191300953 191300953 C T rs150345541 MFSD6 Synonymous SNV N66N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.595 128026 chr2 191927613 191927613 C T rs140221173 STAT4 Synonymous SNV L272L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 12.99 128027 chr12 124106441 124106441 C T rs772043609 EIF2B1 Synonymous SNV A260A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.12 128028 chr12 58015655 58015655 G A rs373366023 LOC101927583 0.004 0 0 3 5 0 0.008 0 0 0 0 0 9.577 128029 chr12 124184324 124184324 G A rs760206821 TCTN2 Nonsynonymous SNV A526T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.068 128030 chr12 53045860 53045860 T C KRT2 Nonsynonymous SNV S23G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 128031 chr12 124305292 124305292 A G rs372651135 DNAH10 Nonsynonymous SNV Y1271C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 128032 chr12 124364296 124364296 C T rs755673190 DNAH10 Nonsynonymous SNV P2743L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.26 128033 chr1 167096823 167096823 A G DUSP27 Nonsynonymous SNV T819A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 128034 chr12 124810122 124810122 C T rs760012096 NCOR2 Synonymous SNV T2401T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.32 128035 chr11 558660 558660 G C rs146543744 LMNTD2 Nonsynonymous SNV R89G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.88 128036 chr2 198365900 198365900 A G rs139114485 HSPE1, HSPE1-MOB4 Nonsynonymous SNV K36E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 128037 chr12 7028806 7028806 C T rs34021779 ENO2 Synonymous SNV A248A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 128038 chr1 169497262 169497262 C T rs149092241 F5 Synonymous SNV L1830L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.25 128039 chr2 201464423 201464423 G A rs142144384 AOX1 Synonymous SNV R130R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 12.23 128040 chr2 202122878 202122989 GTTCTCCTCCTTTTATCTTTTGTGTTTTTTTTCAAGCCCTGCTGAATTTGCTAGTCAACTCAACAGGAAGTGAGGCCATGGAGGGAGGCAGAAGAGCCAGGGTGGTTATTGA - CASP8 Star tloss M1? 0.002 0 0 1 2 0 0.003 0 0 0 0 0 128041 chr1 171761240 171761240 A C rs371883088 EEF1AKNMT Nonsynonymous SNV I364L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.229 128042 chr12 55250591 55250591 C A rs776982597 MUCL1 Synonymous SNV T46T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 128043 chr12 68595807 68595807 T C rs780961280 IL26 Nonsynonymous SNV I140M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 128044 chr12 80182531 80182531 C T rs369205033 PPP1R12A Nonsynonymous SNV R844Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 128045 chr12 55945516 55945516 C A rs200369655 OR6C4 Nonsynonymous SNV S169Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 128046 chr12 133218929 133218929 G A rs146761597 POLE Synonymous SNV S1669S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 14.98 128047 chr2 214142484 214142484 C A rs538500887 SPAG16-DT 0.002 0 0 0 2 0 0 0 1 0 0 0 5.13 128048 chr12 7303613 7303613 G C rs376830897 CLSTN3 Synonymous SNV P827P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.45 128049 chr12 75716962 75716962 C A CAPS2 Nonsynonymous SNV D65Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 128050 chr2 216273129 216273129 A T FN1 Nonsynonymous SNV S774T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 128051 chr2 216861182 216861182 G A rs775194736 MREG Synonymous SNV N34N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.713 128052 chr11 14665921 14665921 C T rs751631361 PDE3B Synonymous SNV S100S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 128053 chr12 94794721 94794721 G A rs377256366 CEP83 Nonsynonymous SNV R152C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 128054 chr1 186305747 186305747 C A rs35917803 TPR Nonsynonymous SNV R1529L 0.009 0.016 0.003 5 10 6 0.013 1 0 0 0 0 28.5 128055 chr12 6436568 6436568 C T rs199510833 PLEKHG6 Nonsynonymous SNV R575C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 128056 chr2 141122270 141122270 G A rs778303995 LRP1B Synonymous SNV D3697D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.89 128057 chr12 96992488 96992488 T C rs147435428 CFAP54 Synonymous SNV T1194T 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.086 128058 chr12 97158872 97158872 G A rs140816236 CFAP54 Synonymous SNV L2719L 0.005 0 0.003 0 6 0 0 1 0 0 0 0 9.947 128059 chr11 18739518 18739518 G A rs748562268 IGSF22 Synonymous SNV S311S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.63 128060 chr12 94580187 94580187 A G rs781280063 PLXNC1 Synonymous SNV K459K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.266 128061 chr13 101288962 101288962 T C TMTC4 Synonymous SNV S212S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.594 128062 chr2 153520755 153520755 A G rs375111636 PRPF40A Synonymous SNV D616D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.764 128063 chr13 101763033 101763033 T A rs777965713 NALCN Synonymous SNV L738L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.414 128064 chr13 101844313 101844313 G A rs759854161 NALCN Synonymous SNV P544P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 128065 chr2 159195256 159195256 T G rs142481955 CCDC148 Nonsynonymous SNV Q103P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.6 128066 chr12 32138720 32138720 A G rs139797700 RESF1 Nonsynonymous SNV K1611E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 128067 chr11 2154759 2154759 C T IGF2 Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 128068 chr2 222291317 222291317 G T rs377085774 EPHA4 Nonsynonymous SNV P854T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 128069 chr2 223085034 223085034 G A rs551614431 PAX3 Nonsynonymous SNV P332L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 32 128070 chr12 41966176 41966178 AAG - rs199717682 PDZRN4 E278del 0.003 0.005 0 0 4 2 0 0 0 0 0 0 128071 chr12 99007880 99007880 A G rs150453279 IKBIP Nonsynonymous SNV I179T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 128072 chr2 160876771 160876771 T C rs141323673 PLA2R1 Nonsynonymous SNV N433S 0.005 0.005 0.007 4 6 2 0.01 2 0 0 0 0 12.95 128073 chr2 160879360 160879360 C T rs140155678 PLA2R1 Synonymous SNV A370A 0.007 0.005 0.017 3 8 2 0.008 5 0 0 0 0 16.54 128074 chr1 203154379 203154379 C T rs114478844 CHI3L1 Nonsynonymous SNV D64N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.946 128075 chr2 227898172 227898172 G A rs201699649 COL4A4 Synonymous SNV N1177N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.245 128076 chr12 80214668 80214668 T C rs777624960 PPP1R12A Nonsynonymous SNV I247V 0.004 0 0 0 5 0 0 0 0 0 0 0 10.66 128077 chr2 168115607 168115607 G T rs756637989 XIRP2 Stop gain E629X 0 0 0 1 0 0 0.003 0 0 0 0 0 0.844 128078 chr13 103399001 103399001 A C rs763132417 CCDC168 Nonsynonymous SNV M1349R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.821 128079 chr11 3147745 3147745 A G rs185192473 OSBPL5 Synonymous SNV D59D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.414 128080 chr2 231406081 231406081 G A rs369506321 SP100 Synonymous SNV P799P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.814 128081 chr2 231867435 231867435 G A rs150171511 SPATA3 Synonymous SNV A170A 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 5.713 128082 chr11 60702152 60702152 C T rs747759500 TMEM132A Synonymous SNV H585H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.392 128083 chr2 232104671 232104671 C T ARMC9 Nonsynonymous SNV L266F 0.001 0 0 0 1 0 0 0 0 0 0 0 30 128084 chr2 233349542 233349542 G C ECEL1 Nonsynonymous SNV T343R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 128085 chr11 3381242 3381242 A G rs766082692 ZNF195 Synonymous SNV F260F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.519 128086 chr13 21278222 21278222 C T rs1051154300 IL17D Nonsynonymous SNV P28S 0.003 0 0 1 3 0 0.003 0 1 0 0 0 2.449 128087 chr11 34963454 34963454 C T rs950497159 MIR1343 0 0 0.003 0 0 0 0 1 0 0 0 0 7.943 128088 chr1 212530001 212530001 A T PPP2R5A Nonsynonymous SNV T264S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 128089 chr2 178386003 178386003 G A rs36052691 AGPS Synonymous SNV T568T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 13.68 128090 chr11 407954 407954 G C rs111819059 SIGIRR Nonsynonymous SNV P115R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.002 128091 chr13 115047281 115047281 C T rs373380917 UPF3A Nonsynonymous SNV A56V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 14.41 128092 chr12 95911973 95911973 G A rs546776698 USP44 Nonsynonymous SNV P699L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.8 128093 chr11 6221358 6221358 C G rs139467264 OR52W1 Nonsynonymous SNV T302S 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 25.5 128094 chr11 4411624 4411624 G A rs775371395 TRIM21 Nonsynonymous SNV R6C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 128095 chr13 23908169 23908169 T C rs61753111 SACS Synonymous SNV P3135P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.143 128096 chr2 238280706 238280706 G A rs375909800 COL6A3 Synonymous SNV Y711Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.295 128097 chr11 47362717 47362717 G A rs397515932 MYBPC3 Synonymous SNV C623C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.06 128098 chr11 47611933 47611933 G T rs567967350 C1QTNF4 Nonsynonymous SNV L144I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.207 128099 chr11 640281 640281 C T rs200069417 DRD4 Synonymous SNV A344A 0.007 0.008 0.01 1 8 3 0.003 3 0 0 0 0 17.19 128100 chr11 4825185 4825185 C T rs147276592 OR52R1 Synonymous SNV S142S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 8.577 128101 chr13 103397929 103397929 T G rs779187550 CCDC168 Nonsynonymous SNV K1706N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 128102 chr13 38162037 38162037 G T rs376539965 POSTN Synonymous SNV T176T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.636 128103 chr13 108882548 108882548 G A rs768141867 ABHD13 Nonsynonymous SNV A328T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.706 128104 chr13 41134113 41134113 T G rs202007776 FOXO1 Synonymous SNV S505S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 3.336 128105 chr11 64572560 64572560 C T rs138770431 MEN1 Synonymous SNV L437L 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.35 128106 chr2 241929108 241929108 G A rs775271521 CROCC2 Nonsynonymous SNV R1574Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 128107 chr2 242148835 242148835 G A ANO7 Nonsynonymous SNV D405N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 128108 chr2 242203969 242203969 G A HDLBP Nonsynonymous SNV A43V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 128109 chr11 64795039 64795039 G C SNX15 Synonymous SNV L10L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.415 128110 chr11 64795042 64795042 G A rs765147382 SNX15 Synonymous SNV R11R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.709 128111 chr11 64795049 64795058 ACAGTGTCGG - SNX15 V15Pfs*13 0.003 0.003 0 0 3 1 0 0 0 0 0 0 128112 chr13 46135602 46135602 C G ERICH6B Nonsynonymous SNV E437Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 128113 chr2 242757460 242757460 G A rs147249917 NEU4 Nonsynonymous SNV V194M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28 128114 chr2 190328455 190328455 G A rs149368656 WDR75 Nonsynonymous SNV A325T 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 26.2 128115 chr13 41910789 41910789 A G rs141436576 NAA16 Nonsynonymous SNV E304G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 128116 chr13 114060408 114060408 G A rs573442566 LOC101928841 Synonymous SNV P699P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.541 128117 chr13 20216317 20216317 C T rs774984319 MPHOSPH8 Synonymous SNV P92P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.92 128118 chr13 52534412 52534412 T C rs146303208 ATP7B Nonsynonymous SNV M665V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.8 128119 chr3 9146505 9146505 C T rs142254687 SRGAP3 Synonymous SNV S94S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.87 128120 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCA SKA3 0.003 0 0 0 3 0 0 0 0 0 0 0 128121 chr1 231298928 231298928 T A TRIM67 Synonymous SNV A71A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.75 128122 chr13 49688861 49688861 C T FNDC3A Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 128123 chr11 67174388 67174388 G A rs377469565 TBC1D10C Nonsynonymous SNV G146R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 128124 chr13 99043071 99043071 G A rs760762271 FARP1 Nonsynonymous SNV R342Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 128125 chr13 79176483 79176483 - TGG POU4F1 H108_Q109insH 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 128126 chr11 551708 551708 C T rs113929032 LRRC56 Nonsynonymous SNV T285M 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.3 128127 chr11 5529988 5529988 G C rs139419565 UBQLN3 Nonsynonymous SNV N267K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 128128 chr13 33002161 33002161 T C rs377594152 N4BP2L1 Nonsynonymous SNV Q20R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.006 128129 chr2 210559804 210559804 T A MAP2 Nonsynonymous SNV H966Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 128130 chr3 23987084 23987084 A G rs375475101 NR1D2 Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.34 128131 chr14 100835498 100835498 G C rs143974221 WARS1 Nonsynonymous SNV L9V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.644 128132 chr11 556049 556049 G A rs113093997 LMNTD2 Nonsynonymous SNV P442S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 2.855 128133 chr1 245850349 245850349 C G rs190878095 KIF26B Nonsynonymous SNV A1355G 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 6.887 128134 chr2 215880247 215880247 C G rs79664364 ABCA12 Synonymous SNV L323L 0.004 0.003 0.017 5 5 1 0.013 5 0 0 0 0 Conflicting interpretations of pathogenicity 12.25 128135 chr11 71942193 71942193 G A rs749091098 INPPL1 Nonsynonymous SNV R486H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 128136 chr2 217315748 217315748 G A rs373085384 SMARCAL1 Synonymous SNV L677L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 12.17 128137 chr12 71526474 71526474 T A rs143898955 TSPAN8 Nonsynonymous SNV E192V 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 23.2 128138 chr11 73064007 73064007 A C ARHGEF17 Nonsynonymous SNV M1135L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.23 128139 chr12 80665469 80665469 T C rs201487127 OTOGL Nonsynonymous SNV F845L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Uncertain significance 16.32 128140 chr13 114535376 114535376 C T rs144457857 GAS6 Nonsynonymous SNV V347M 0 0 0 5 0 0 0.013 0 0 0 0 0 12.39 128141 chr11 75827030 75827030 C T rs564982449 UVRAG Synonymous SNV N456N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.99 128142 chr14 105609096 105609096 C A rs375751284 JAG2 Nonsynonymous SNV G1180V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.006 128143 chr2 220405278 220405278 C T rs187605228 CHPF Synonymous SNV P223P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 13.49 128144 chr14 20844265 20844265 G A rs372524137 TEP1 Nonsynonymous SNV R1975W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 128145 chr12 88589256 88589256 G A rs34623199 TMTC3 Nonsynonymous SNV V628I 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Benign 5.428 128146 chr13 75936438 75936438 C T rs138788209 TBC1D4 Synonymous SNV P268P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.64 128147 chr3 43389239 43389239 C T rs2036617 SNRK Synonymous SNV D290D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 11.24 128148 chr12 91365684 91365684 G A rs140084607 EPYC Nonsynonymous SNV R199C 0.003 0 0 0 3 0 0 0 0 0 0 0 29.4 128149 chr3 44827959 44827959 C T rs146335110 KIF15 Synonymous SNV L178L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.91 128150 chr13 94680008 94680008 G A rs200646263 GPC6 Nonsynonymous SNV R246H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 128151 chr14 20898008 20898008 A G KLHL33 Nonsynonymous SNV V276A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.9 128152 chr2 228155602 228155602 G A rs973769150 COL4A3 Synonymous SNV T1070T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.57 128153 chr13 31495835 31495835 C T rs41433250 MEDAG Synonymous SNV S213S 0 0 0.003 5 0 0 0.013 1 0 0 0 0 14.62 128154 chr11 8670091 8670091 C T rs1001047208 TRIM66 Synonymous SNV V54V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.56 128155 chr14 100367279 100367279 A T EML1 Nonsynonymous SNV H304L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 128156 chr14 21561030 21561030 G A rs116749937 ZNF219 Synonymous SNV G142G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.604 128157 chr14 21793467 21793467 G A rs35207255 RPGRIP1 Synonymous SNV A764A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 11.4 128158 chr11 8959380 8959380 T C rs150867873 ASCL3 Nonsynonymous SNV N110S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 128159 chr14 21860900 21860900 G A rs61756312 CHD8 Synonymous SNV S2179S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 5.48 128160 chr14 23892819 23892819 G A rs145379951 MYH7 Synonymous SNV A1012A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.33 128161 chr14 102676136 102676136 A C WDR20 Nonsynonymous SNV E482D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 128162 chr14 21991343 21991343 G C rs61743453 SALL2 Nonsynonymous SNV P838R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 21.8 128163 chr14 24568340 24568340 C T rs149974910 PCK2 Synonymous SNV F249F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 16.69 128164 chr11 58919451 58919451 T A rs74658848 FAM111A Nonsynonymous SNV L104I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 14.25 128165 chr11 58959717 58959717 G A rs151058472 DTX4 Synonymous SNV G350G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.455 128166 chr2 233398659 233398659 C T rs147050939 CHRND Nonsynonymous SNV P162S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 26 128167 chr14 24652826 24652826 G A IPO4 Nonsynonymous SNV A678V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 128168 chr14 24771514 24771514 A G rs200425444 NOP9 Nonsynonymous SNV R343G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.94 128169 chr3 48605044 48605044 G A rs143975533 COL7A1 Nonsynonymous SNV S2670L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 128170 chr14 104473174 104473174 G T TDRD9 Nonsynonymous SNV A667S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.8 128171 chr11 60150714 60150714 G A rs2233241 MS4A7 Nonsynonymous SNV E34K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13 128172 chr14 31604260 31604260 A G rs746060517 HECTD1 Synonymous SNV D1132D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.071 128173 chr11 60199909 60199909 T C rs78731820 MS4A5 Nonsynonymous SNV I103T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 128174 chr11 60215161 60215161 T C rs74594524 MS4A5 Synonymous SNV L178L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.177 128175 chr11 60271173 60271173 G T rs6591594 MS4A12 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 19.34 128176 chr2 234752863 234752863 C G HJURP Nonsynonymous SNV V103L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.458 128177 chr11 60497067 60497067 G A rs79634577 MS4A18 Synonymous SNV T93T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.095 128178 chr11 607680 607680 G A rs113889171 PHRF1 Nonsynonymous SNV G742R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.345 128179 chr3 50332501 50332501 C T rs139756596 HYAL3 Nonsynonymous SNV R178H 0.004 0 0.01 0 5 0 0 3 0 0 0 0 28.4 128180 chr3 51968690 51968690 T C rs774886247 RRP9 Nonsynonymous SNV I379M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 128181 chr3 52256127 52256127 G A rs375587609 TLR9 Synonymous SNV N735N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 128182 chr2 238296513 238296513 C T rs111402193 COL6A3 Nonsynonymous SNV V136M 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 Likely benign 23.3 128183 chr12 103249075 103249075 T C rs199475617 PAH Nonsynonymous SNV E182G 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Likely pathogenic 23.8 128184 chr13 20656950 20656950 T A ZMYM2 Nonsynonymous SNV Y1200N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 128185 chr12 105611448 105611448 T C rs36126236 APPL2 Nonsynonymous SNV K70R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.8 128186 chr14 31583253 31583253 T C rs760501818 HECTD1 Nonsynonymous SNV I1896V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 128187 chr11 63078478 63078478 - A rs768117722 SLC22A10 0 0 0.003 0 0 0 0 1 0 0 0 0 128188 chr14 32586418 32586418 C G rs146454039 ARHGAP5 Nonsynonymous SNV L1264V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28 128189 chr13 28014167 28014167 C T rs144989654 MTIF3 Nonsynonymous SNV R140Q 0.004 0 0 0 5 0 0 0 0 0 0 0 11.14 128190 chr14 21469470 21469470 C A rs185949718 SLC39A2 Stop gain S221X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 128191 chr3 58107182 58107182 C T rs147267045 FLNB Synonymous SNV P1026P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.44 128192 chr14 55510180 55510180 G C SOCS4 Nonsynonymous SNV A141P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 128193 chr2 48734419 48734419 G A rs367948846 PPP1R21 Synonymous SNV V618V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 128194 chr11 65269897 65269897 - T rs35843482 MALAT1, TALAM1 0 0 0.078 0 0 0 0 23 0 0 2 0 128195 chr14 61789018 61789018 A G rs201686253 PRKCH Nonsynonymous SNV T67A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 128196 chr12 120146028 120146028 T C rs56303497 CIT Nonsynonymous SNV I1681V 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 Benign 0.014 128197 chr3 98530317 98530317 G T rs143662022 DCBLD2 Nonsynonymous SNV A482D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.1 128198 chr3 98530329 98530329 G A rs200621366 DCBLD2 Nonsynonymous SNV P478L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.51 128199 chr3 12623713 12623713 C G rs188762040 MKRN2 Synonymous SNV L361L 0 0 0 3 0 0 0.008 0 0 0 0 0 15.23 128200 chr14 24544004 24544004 G A rs145544255 CPNE6 Synonymous SNV K224K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.7 128201 chr14 55429533 55429533 A G WDHD1 Nonsynonymous SNV F734S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 128202 chr14 55604958 55604958 G A rs746608097 LGALS3 Nonsynonymous SNV G72R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 128203 chr3 105253534 105253534 T G rs752152863 ALCAM Nonsynonymous SNV M192R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 128204 chr14 24651007 24651007 C T rs373492200 IPO4 Synonymous SNV A950A 0.002 0 0 0 2 0 0 0 0 0 0 0 20 128205 chr14 58563671 58563671 A G rs62640395 ARMH4 Synonymous SNV D620D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.965 128206 chr14 58583147 58583147 C G rs765550894 ARMH4 Nonsynonymous SNV S637T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.977 128207 chr14 65205465 65205465 G C rs72724477 PLEKHG3 Nonsynonymous SNV K470N 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23.5 128208 chr3 111797602 111797602 C T rs369208218 TMPRSS7 Synonymous SNV S620S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 128209 chr3 111835704 111835704 T - C3orf52 D206Tfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 128210 chr5 5239309 5239309 G A rs68077031 ADAMTS16 Nonsynonymous SNV V734I 0.009 0.013 0.014 3 10 5 0.008 4 0 0 0 0 Benign 0.039 128211 chr2 71650236 71650236 T C rs79157966 ZNF638 Nonsynonymous SNV C1198R 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 10.96 128212 chr3 25648733 25648733 T A rs780673104 TOP2B Nonsynonymous SNV E1404D 0 0 0 3 0 0 0.008 0 0 0 0 0 11.05 128213 chr3 25773856 25773856 G A NGLY1 Nonsynonymous SNV S442F 0 0 0 3 0 0 0.008 0 0 0 0 0 33 128214 chr2 73118625 73118625 G A rs369387459 SPR Nonsynonymous SNV E249K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.726 128215 chr2 74074538 74074538 C T rs199846438 STAMBP Nonsynonymous SNV R134W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.2 128216 chr13 78327455 78327455 A C rs148135081 SLAIN1 Nonsynonymous SNV H60P 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 24.7 128217 chr2 74326635 74326635 G A rs760570757 TET3 Nonsynonymous SNV R1074K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.86 128218 chr14 69993939 69993939 G A rs576896120 PLEKHD1 Nonsynonymous SNV R364H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 128219 chr12 129178435 129178435 C T rs140584108 TMEM132C Nonsynonymous SNV A504V 0.011 0.008 0.01 1 13 3 0.003 3 1 0 0 0 10.24 128220 chr14 50626750 50626750 G C SOS2 Nonsynonymous SNV I417M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.502 128221 chr14 71064380 71064380 T C rs776249032 MED6 Nonsynonymous SNV N46S 0.003 0 0 0 3 0 0 0 0 0 0 0 25 128222 chr3 38155871 38155871 G A rs756633872 DLEC1 Nonsynonymous SNV M1238I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.6 128223 chr14 76112753 76112755 GAG - rs772009705 FLVCR2 E306del 0.001 0 0 0 1 0 0 0 0 0 0 0 128224 chr14 76543036 76543036 T C rs141114765 IFT43 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.9 128225 chr14 77793245 77793245 A G rs375768042 GSTZ1 Synonymous SNV Q45Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.07 128226 chr3 39176661 39176661 G A rs199550942 TTC21A Synonymous SNV A939A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.75 128227 chr2 97166445 97166445 C G NEURL3 Nonsynonymous SNV R82P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.74 128228 chr2 97329214 97329214 A C FER1L5 Synonymous SNV I370I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.31 128229 chr11 74547680 74547680 C G RNF169 Nonsynonymous SNV R678G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 128230 chr12 133780754 133780754 C T rs200561453 ZNF268 Stop gain R828X 0.01 0.008 0 3 12 3 0.008 0 0 0 0 0 36 128231 chr14 89154705 89154705 T C rs866534404 EML5 Synonymous SNV T884T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.772 128232 chr2 99860537 99860537 T C rs34443578 LYG2 Nonsynonymous SNV T149A 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 4.957 128233 chr14 90651236 90651236 C T rs112153420 KCNK13 Synonymous SNV N372N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.243 128234 chr3 124952611 124952611 G A rs199684123 ZNF148 Nonsynonymous SNV T320M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 15.09 128235 chr3 125250856 125250856 C T rs761151032 OSBPL11 Nonsynonymous SNV R676Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 128236 chr14 61448009 61448009 G A SLC38A6 Stop gain W5X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 128237 chr14 64065556 64065556 C T rs138166073 WDR89 Nonsynonymous SNV V369M 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 19.48 128238 chr3 129251241 129251241 C T rs746223530 RHO Synonymous SNV L226L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.961 128239 chr14 91526727 91526727 C G rs765224867 RPS6KA5 Nonsynonymous SNV G18R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 128240 chr14 64749522 64749522 T C rs200128566 ESR2 Nonsynonymous SNV N61S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.001 128241 chr11 82936011 82936011 A C rs754543450 ANKRD42 Nonsynonymous SNV D234A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 128242 chr14 94914667 94914667 G A rs61738925 SERPINA11 Nonsynonymous SNV P149S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 25.4 128243 chr14 65482381 65482381 C A rs748991269 CHURC1-FNTB, FNTB Synonymous SNV I107I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21 128244 chr11 85438773 85438773 C T rs777409349 SYTL2 Nonsynonymous SNV R543Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.472 128245 chr11 85447644 85447644 C T rs12288574 SYTL2 Synonymous SNV P161P 0.004 0.003 0.007 5 5 1 0.013 2 0 0 0 0 Benign 14.42 128246 chr14 93799191 93799191 G C BTBD7 Nonsynonymous SNV S28R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 128247 chr3 134089865 134089865 C T rs150644115 AMOTL2 Synonymous SNV P195P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.195 128248 chr12 2994555 2994555 G A rs765570307 RHNO1 Nonsynonymous SNV R8H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.834 128249 chr14 21991888 21991888 G A SALL2 Synonymous SNV P656P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 128250 chr3 51749992 51749992 A G GRM2 Nonsynonymous SNV N357D 0.002 0 0 4 2 0 0.01 0 0 0 0 0 11.59 128251 chr14 75330048 75330048 C T rs781299088 PROX2 Nonsynonymous SNV G164R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.671 128252 chr12 40707778 40707778 G A rs35507033 LRRK2 Nonsynonymous SNV R1514Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 22.8 128253 chr15 100801812 100801812 C T rs150290429 ADAMTS17 Synonymous SNV E301E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 13.99 128254 chr2 131674186 131674186 C G rs1052025924 ARHGEF4 Synonymous SNV S889S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.871 128255 chr14 77873936 77873936 C T NOXRED1 Synonymous SNV V134V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.658 128256 chr3 52721365 52721365 C T rs375460127 GNL3 Nonsynonymous SNV A59V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29.5 128257 chr12 43770046 43770046 A C rs150420241 ADAMTS20 Nonsynonymous SNV I1738R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.63 128258 chr14 24534244 24534244 G A rs201325294 CARMIL3 Nonsynonymous SNV R1053Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.2 128259 chr14 59113313 59113313 C T rs202018245 DACT1 Nonsynonymous SNV H621Y 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 24.7 128260 chr15 27222234 27222234 G A rs28399526 GABRG3 Nonsynonymous SNV V47M 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 25.2 128261 chr14 24683304 24683304 C A rs145254894 MDP1, NEDD8-MDP1 Nonsynonymous SNV R106M 0.009 0.008 0.01 4 11 3 0.01 3 0 0 0 0 34 128262 chr14 59998574 59998574 C G CCDC175 Nonsynonymous SNV E560Q 0 0 0 4 0 0 0.01 0 0 0 0 0 21.4 128263 chr15 34395775 34395775 C A rs374332052 PGBD4 Nonsynonymous SNV T348N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 128264 chr15 33446344 33446344 T C rs61744870 FMN1 Nonsynonymous SNV K258E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 128265 chr3 58519825 58519825 C G rs538417562 ACOX2 Nonsynonymous SNV R124T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 0.173 128266 chr3 62254765 62254765 T C rs145097172 PTPRG Nonsynonymous SNV I977T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.9 128267 chr15 34159833 34159833 C T rs376295844 AVEN Nonsynonymous SNV G279E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.794 128268 chr14 92959940 92959940 G A rs4900130 SLC24A4 Nonsynonymous SNV V613I 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 Benign 25.6 128269 chr12 10954383 10954383 T A rs3759251 TAS2R7 Nonsynonymous SNV T263S 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 2.229 128270 chr12 10954632 10954632 C A rs76112700 TAS2R7 Nonsynonymous SNV A180S 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 2.022 128271 chr12 10954916 10954916 A G rs77050900 TAS2R7 Nonsynonymous SNV I85T 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 22.5 128272 chr12 10959438 10959438 G A rs74611066 TAS2R8 Nonsynonymous SNV L48F 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 17.62 128273 chr2 158157422 158157422 C T rs187784514 GALNT5 Stop gain R784X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 44 128274 chr12 10961978 10961978 C T rs77609577 TAS2R9 Nonsynonymous SNV A233T 0.007 0 0.01 2 8 0 0.005 3 0 0 0 0 20.4 128275 chr12 10962140 10962140 T C rs149488505 TAS2R9 Nonsynonymous SNV K179E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 128276 chr3 171405369 171405369 G A rs372404450 PLD1 Synonymous SNV A515A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.963 128277 chr12 109940977 109940977 C G UBE3B Nonsynonymous SNV R478G 0 0 0.003 0 0 0 0 1 0 0 0 0 31 128278 chr15 42032309 42032309 C T MGA Nonsynonymous SNV T1498I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.5 128279 chr3 183210347 183210347 G A rs183753852 KLHL6 Nonsynonymous SNV A500V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.1 128280 chr12 112924280 112924280 G C rs201247699 PTPN11 Nonsynonymous SNV G413A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 12.6 128281 chr15 41275227 41275227 C T rs777353016 INO80 Nonsynonymous SNV R1429Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 128282 chr15 41624536 41624536 C A rs769539231 OIP5 Nonsynonymous SNV C75F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.9 128283 chr3 183905751 183905751 T G rs751740928 ABCF3 Nonsynonymous SNV F177L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.36 128284 chr12 116421071 116421071 G C MED13L Synonymous SNV T1602T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.886 128285 chr14 75022245 75022245 G T rs368523465 LTBP2 Nonsynonymous SNV Q328K 0 0 0 10 0 0 0.026 0 0 0 0 0 6.497 128286 chr15 42162046 42162046 C T rs199589032 SPTBN5 Nonsynonymous SNV R1949H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.84 128287 chr14 75264874 75264874 T C rs202213955 YLPM1 Synonymous SNV F958F 0.004 0.003 0.003 10 5 1 0.026 1 0 0 0 0 0.019 128288 chr12 118298127 118298127 C T rs754794838 KSR2 Nonsynonymous SNV R97Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 128289 chr14 76928909 76928909 C T rs553712774 ESRRB Nonsynonymous SNV P140L 0.001 0 0 9 1 0 0.023 0 0 0 0 0 27.1 128290 chr12 53039025 53039025 G A rs186531871 KRT2 Synonymous SNV G566G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 8.867 128291 chr14 58956921 58956921 A G KIAA0586 Nonsynonymous SNV D1134G 0.003 0 0 0 3 0 0 0 0 0 0 0 32 128292 chr3 186944237 186944237 C A MASP1 Nonsynonymous SNV D505Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.634 128293 chr15 43819783 43819783 C T rs368900013 MAP1A Synonymous SNV L2038L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.28 128294 chr14 60585194 60585194 G A rs748449922 PCNX4 Nonsynonymous SNV V342M 0.002 0 0 0 2 0 0 0 0 0 0 0 9.617 128295 chr12 122864920 122864920 G A rs34292795 CLIP1 Nonsynonymous SNV T27M 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 23.3 128296 chr12 124821509 124821509 C T rs747426729 NCOR2 Nonsynonymous SNV A1959T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.8 128297 chr12 55846125 55846125 T C rs145941340 OR6C2 Nonsynonymous SNV I43T 0.009 0.013 0.01 1 11 5 0.003 3 0 0 0 0 23.3 128298 chr15 60760332 60760334 CAA - ICE2 L112del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 128299 chr14 65234426 65234426 C T rs146561732 SPTB Synonymous SNV T2058T 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Uncertain significance 17.71 128300 chr3 121980455 121980455 G A rs141631116 CASR Synonymous SNV E191E 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Benign/Likely benign 1.667 128301 chr12 125834800 125834800 G A rs73233395 TMEM132B Synonymous SNV S290S 0.004 0.008 0.014 3 5 3 0.008 4 0 0 0 0 9.178 128302 chr14 93397779 93397779 C T CHGA Synonymous SNV A180A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.09 128303 chr14 93712185 93712185 - TGCTGC rs764187778 BTBD7 A505_S506insAA 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 128304 chr12 56418941 56418941 T C rs370529662 IKZF4 Synonymous SNV S50S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 12.15 128305 chr15 64448275 64448275 C T PPIB Nonsynonymous SNV A200T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 128306 chr12 129178533 129178533 C A rs191481498 TMEM132C Nonsynonymous SNV L537I 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 29.8 128307 chr3 197618325 197618325 C T rs760266485 IQCG Nonsynonymous SNV V397I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.586 128308 chr15 41120716 41120716 G A PPP1R14D Nonsynonymous SNV H42Y 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 128309 chr15 41191921 41191921 C T VPS18 Nonsynonymous SNV P302L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.5 128310 chr12 12974955 12974955 G T DDX47 Nonsynonymous SNV A167S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 128311 chr15 56993268 56993268 T C rs145488880 ZNF280D Nonsynonymous SNV I69V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 5.826 128312 chr4 955336 955336 G A rs201147779 DGKQ Synonymous SNV S831S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.741 128313 chr12 57577667 57577667 G A rs745414435 LRP1 Synonymous SNV E1968E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.8 128314 chr15 42116741 42116741 C T rs142827185 MAPKBP1 Nonsynonymous SNV R1148C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 128315 chr15 42144480 42144480 A C rs117366148 SPTBN5 Nonsynonymous SNV L3495R 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 0.006 128316 chr12 132624314 132624314 C T rs61756267 DDX51 Nonsynonymous SNV E614K 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 23.7 128317 chr4 1705399 1705399 G A rs41286667 SLBP Nonsynonymous SNV R30C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.5 128318 chr15 64388264 64388264 T G SNX1 Nonsynonymous SNV F18V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 128319 chr4 2275862 2275862 G A rs375392049 ZFYVE28 Synonymous SNV A681A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.746 128320 chr15 44859751 44859751 G A rs374057859 SPG11 Nonsynonymous SNV R2096C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 35 128321 chr15 65239775 65239775 C T rs760119932 ANKDD1A Nonsynonymous SNV T438M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 128322 chr2 196771409 196771409 G A rs201599303 DNAH7 Stop gain R1437X 0.006 0.003 0 0 7 1 0 0 0 0 0 0 38 128323 chr15 66044960 66044960 T C rs116044933 DENND4A Synonymous SNV L106L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.123 128324 chr15 23891295 23891295 G A MAGEL2 Nonsynonymous SNV P532L 0.003 0 0 4 3 0 0.01 0 0 0 0 0 17.98 128325 chr4 3517891 3517891 G A LRPAP1 Synonymous SNV D262D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 128326 chr3 130134512 130134512 A G rs773420472 COL6A5 Synonymous SNV R1595R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.007 128327 chr3 130140181 130140181 T G COL6A5 Nonsynonymous SNV F1672V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.2 128328 chr12 6630215 6630215 T C rs139746094 NCAPD2 Synonymous SNV H551H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 1.199 128329 chr15 68119699 68119699 G A rs551125810 SKOR1 Synonymous SNV K511K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11 128330 chr12 19498778 19498778 A G rs138400662 PLEKHA5 Nonsynonymous SNV M705V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 128331 chr12 66583115 66583115 G C rs779856554 IRAK3 Synonymous SNV S12S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.22 128332 chr15 75501129 75501129 G A rs139384456 C15orf39 Nonsynonymous SNV G914S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 128333 chr2 202744815 202744815 C T rs145205966 CDK15 Nonsynonymous SNV R375C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 128334 chr14 91671159 91671159 C T rs150793173 DGLUCY Synonymous SNV A518A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.18 128335 chr15 32322842 32322842 G A rs200390587 CHRNA7 Synonymous SNV S15S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 13.39 128336 chr4 6863957 6863957 C T rs939729619 KIAA0232 Synonymous SNV P616P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.995 128337 chr14 94567097 94567097 T C rs149572076 IFI27L1 Nonsynonymous SNV V14A 0.004 0.013 0 4 5 5 0.01 0 0 0 0 0 0.131 128338 chr14 94756569 94756569 T C SERPINA10 Nonsynonymous SNV E121G 0.003 0.016 0 4 4 6 0.01 0 0 0 0 0 0.176 128339 chr15 59225723 59225723 C A rs150873124 SLTM Synonymous SNV S14S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23 128340 chr15 59373178 59373178 C T RNF111 Synonymous SNV C664C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.79 128341 chr3 146322998 146322998 A G rs201075188 PLSCR5 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 128342 chr15 62256039 62256039 A G VPS13C Nonsynonymous SNV I1066T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 128343 chr3 148601469 148601469 C T rs140470073 CPA3 Nonsynonymous SNV T283M 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 28.9 128344 chr15 63092654 63092654 G A rs369969413 TLN2 Nonsynonymous SNV D2108N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 128345 chr12 3788162 3788162 T A rs138027181 CRACR2A Nonsynonymous SNV D148V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.852 128346 chr4 13605607 13605607 C T rs373974475 BOD1L1 Nonsynonymous SNV V973I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.2 128347 chr12 39760152 39760152 A T rs78806233 KIF21A Synonymous SNV L301L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.6 128348 chr15 63797029 63797029 G A USP3 Nonsynonymous SNV V31M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 128349 chr15 79277486 79277486 C T rs116883402 RASGRF1 Nonsynonymous SNV A325T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 128350 chr15 41625168 41625168 T A rs200844937 NUSAP1 Nonsynonymous SNV S5T 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 23.8 128351 chr12 8991782 8991782 C G A2ML1 Nonsynonymous SNV S348R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.94 128352 chr15 65392042 65392042 G C rs545763415 UBAP1L Nonsynonymous SNV P237R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 128353 chr15 42137928 42137928 C T rs928301728 JMJD7-PLA2G4B, PLA2G4B Stop gain Q484X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 38 128354 chr3 155485412 155485412 G A rs368515010 C3orf33 Synonymous SNV L123L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.84 128355 chr4 37440529 37440529 A G rs752838933 NWD2 Synonymous SNV K271K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.43 128356 chr3 160474390 160474390 C T rs766833997 PPM1L Synonymous SNV I98I 0 0 0 2 0 0 0.005 0 0 0 0 0 15.62 128357 chr15 43503710 43503710 A G rs114136713 EPB42 Synonymous SNV N181N 0.004 0.003 0.007 5 5 1 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.049 128358 chr15 43545096 43545096 G C rs35578968 TGM5 Nonsynonymous SNV N159K 0.003 0.005 0.01 3 4 2 0.008 3 0 0 0 0 Likely benign 15.01 128359 chr15 69011887 69011887 A G rs151010818 CORO2B Nonsynonymous SNV N431S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 128360 chr15 43545734 43545734 G A rs77256087 TGM5 Synonymous SNV P136P 0.003 0.005 0.014 4 4 2 0.01 4 0 0 0 0 Benign 9.964 128361 chr15 43552744 43552744 G C rs61744878 TGM5 Nonsynonymous SNV S15C 0.003 0.005 0.014 4 4 2 0.01 4 0 0 0 0 Benign 18.15 128362 chr3 165547745 165547745 G A rs143300460 BCHE Synonymous SNV V359V 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Uncertain significance 5.478 128363 chr12 96266124 96266124 G A rs762142680 CCDC38 Nonsynonymous SNV R465C 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 34 128364 chr15 44094013 44094013 T G rs143593239 SERF2-C15ORF63 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 7.753 128365 chr15 44166570 44166570 C T rs115185530 FRMD5 Nonsynonymous SNV R374Q 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 20.2 128366 chr4 40892467 40892467 G A rs776349455 APBB2 Synonymous SNV S459S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 128367 chr15 45409476 45409476 G A DUOXA2 Nonsynonymous SNV A248T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.34 128368 chr15 90294199 90294199 A G rs752378374 MESP1 Synonymous SNV S88S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 128369 chr4 44700605 44700605 A G rs369850931 GUF1 Synonymous SNV Q599Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.794 128370 chr5 172113829 172113829 G C rs762182850 NEURL1B Synonymous SNV L341L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.584 128371 chr12 51771119 51771128 GGGGGGCAGC - GALNT6 R172Hfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 128372 chr15 75652514 75652514 G A rs200769294 MAN2C1 Synonymous SNV H442H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.474 128373 chr15 75658883 75658883 C T rs149376540 MAN2C1 Synonymous SNV L134L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 128374 chr15 93536185 93536185 A G rs144292068 CHD2 Synonymous SNV A1184A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 11.01 128375 chr15 93595448 93595448 G A rs749103570 RGMA Synonymous SNV D124D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 4.35 128376 chr4 55970949 55970949 C T rs753716162 KDR Nonsynonymous SNV M616I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.419 128377 chr15 41814382 41814382 C T RPAP1 Nonsynonymous SNV A937T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.05 128378 chr3 185229380 185229380 A G LIPH Synonymous SNV S400S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.014 128379 chr15 55790539 55790551 CGGGAGCGGATAG - rs771558247 DNAAF4-CCPG1 0.001 0 0 3 1 0 0.008 0 0 0 0 0 128380 chr3 186395400 186395400 G A rs2229331 HRG Nonsynonymous SNV G436R 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Uncertain significance 0.006 128381 chr12 53189266 53189266 G A rs369823813 KRT3 Synonymous SNV I187I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 128382 chr3 188478019 188478019 G A rs143323560 LPP Synonymous SNV G306G 0.013 0.021 0.003 12 15 8 0.031 1 0 0 0 0 Benign 12.37 128383 chr3 190999907 190999907 T C rs755034515 UTS2B Synonymous SNV Q24Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.005 128384 chr16 1272329 1272329 G A rs202107690 TPSG1 Nonsynonymous SNV P175L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 128385 chr15 45048624 45048624 T C rs752758009 TRIM69 Nonsynonymous SNV L22P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 128386 chr12 55615589 55615589 C G rs150231994 OR10A7 Nonsynonymous SNV R261G 0 0 0.007 0 0 0 0 2 0 0 0 0 12.55 128387 chr15 99500647 99500647 G A rs146862253 IGF1R Synonymous SNV P1360P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.98 128388 chr2 238002794 238002794 T C rs768191872 COPS8 Synonymous SNV D131D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.364 128389 chr12 55820547 55820547 C A rs116261510 OR6C76 Synonymous SNV V170V 0.001 0.005 0.014 2 1 2 0.005 4 0 0 0 0 14.31 128390 chr4 76902572 76902572 C G rs139123280 SDAD1 Nonsynonymous SNV D83H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 128391 chr15 65369962 65369962 C T rs750447903 KBTBD13 Nonsynonymous SNV T270M 0 0 0 3 0 0 0.008 0 0 0 0 0 0.546 128392 chr15 86686948 86686948 A G AGBL1 Nonsynonymous SNV H45R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 128393 chr16 16142040 16142040 C T rs755996982 ABCC1 Synonymous SNV V420V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 128394 chr13 29599435 29599435 C T rs3812869 MTUS2 Synonymous SNV L200L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.803 128395 chr16 1268979 1268979 C T rs72552054 CACNA1H Nonsynonymous SNV A1960V 0.014 0.01 0.017 9 17 4 0.023 5 0 0 0 0 Benign 7.836 128396 chr2 241885595 241885595 G A rs548846216 CROCC2 Nonsynonymous SNV R763Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.5 128397 chr3 196754781 196754781 A G rs149836828 MELTF Nonsynonymous SNV V17A 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 0.009 128398 chr4 88053549 88053549 A G rs199981601 AFF1 Synonymous SNV P731P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.349 128399 chr13 35517227 35517227 C T NBEA Synonymous SNV D90D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.4 128400 chr16 1561037 1561037 G A rs141392067 IFT140 Nonsynonymous SNV R1433C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 128401 chr15 91030296 91030296 A G IQGAP1 Nonsynonymous SNV M1379V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 128402 chr13 44455233 44455233 A G rs34414396 LACC1 Nonsynonymous SNV K38E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 5.468 128403 chr4 96166139 96166139 G A rs200437262 UNC5C Nonsynonymous SNV T311M 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 32 128404 chr16 21272648 21272648 A G rs144588424 CRYM Synonymous SNV F269F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign/Likely benign 9.962 128405 chr3 9934759 9934759 C G JAGN1 Nonsynonymous SNV P30A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 128406 chr12 6993766 6993766 - A rs34853861 RPL13P5 0 0 0.007 0 0 0 0 2 0 0 1 0 128407 chr12 6993876 6993876 A G rs2269360 DSTNP2 0 0 0.014 0 0 0 0 4 0 0 2 0 3.293 128408 chr15 66857613 66857613 A G rs145934236 LCTL Nonsynonymous SNV S31P 0.006 0.005 0 0 7 2 0 0 0 0 0 0 23.9 128409 chr16 1961852 1961852 C T rs199919782 HS3ST6 Synonymous SNV P256P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.419 128410 chr12 7047911 7047911 G A rs143844103 ATN1 Nonsynonymous SNV A929T 0.002 0.005 0.007 3 2 2 0.008 2 0 0 0 0 23.1 128411 chr16 1997064 1997064 G A rs147972626 RPL3L Nonsynonymous SNV R242W 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 15.54 128412 chr12 7073558 7073558 G A rs112516557 MIR200CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 6.926 128413 chr16 2025362 2025362 T C rs940605833 TBL3 Nonsynonymous SNV V243A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.455 128414 chr16 2029522 2029522 C T rs201565784 NOXO1 Nonsynonymous SNV R245H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.99 128415 chr4 6293040 6293040 A C rs41264699 WFS1 Nonsynonymous SNV K193Q 0.004 0.003 0.007 5 5 1 0.013 2 0 0 0 0 Benign/Likely benign 17.83 128416 chr4 6302405 6302405 G A rs537052067 WFS1 Nonsynonymous SNV A295T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Uncertain significance 23.5 128417 chr13 52603183 52603183 A C UTP14C Synonymous SNV G81G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.644 128418 chr16 28331932 28331932 G A rs757766391 SBK1 Nonsynonymous SNV R322H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 128419 chr16 28509482 28509482 C T rs377240266 APOBR Synonymous SNV R1012R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.027 128420 chr16 28884858 28884858 C T rs190981290 SH2B1 Nonsynonymous SNV A663V 0.012 0.005 0.003 9 14 2 0.023 1 0 0 0 0 Benign 26 128421 chr15 73076073 73076073 C T rs144124783 ADPGK-AS1 0.013 0.01 0.02 3 15 4 0.008 6 0 0 0 0 8.896 128422 chr13 73409470 73409470 G A PIBF1 Nonsynonymous SNV R396Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.6 128423 chr16 20975039 20975039 C T rs201349145 DNAH3 Synonymous SNV T3343T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.907 128424 chr4 114267137 114267137 G A ANK2 Nonsynonymous SNV A620T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 128425 chr16 29790839 29790839 T C rs141079252 ZG16 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.416 128426 chr15 74474762 74474762 G A rs531103181 STRA6 Nonsynonymous SNV T447M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.77 128427 chr16 2139992 2139992 T G rs751511886 PKD1 Nonsynonymous SNV Q4215H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 128428 chr16 29851558 29851558 G A rs112014410 MVP Synonymous SNV V323V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.657 128429 chr16 2143611 2143611 G A rs772258804 PKD1 Synonymous SNV H3649H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.809 128430 chr4 122604580 122604580 A G rs41278081 ANXA5 Nonsynonymous SNV I81T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Likely benign 28.1 128431 chr4 10079377 10079377 C T rs34193855 WDR1 Synonymous SNV S383S 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 17.99 128432 chr13 99338524 99338524 G A SLC15A1 Stop gain Q619X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 43 128433 chr4 10492187 10492187 A G rs189381725 CLNK Synonymous SNV I397I 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 1.881 128434 chr15 78566626 78566626 G C rs149661275 DNAJA4 Nonsynonymous SNV G169A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 27.5 128435 chr12 88178418 88178418 G A rs7136026 MKRN9P 0 0 0.014 0 0 0 0 4 0 0 1 0 2.423 128436 chr6 38980087 38980087 C T rs78849281 DNAH8 Nonsynonymous SNV R4273C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 34 128437 chr16 321227 321227 G A rs370941756 RGS11 Synonymous SNV D95D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.449 128438 chr4 129208583 129208583 G A rs1039665360 PGRMC2 Synonymous SNV L121L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 128439 chr15 90172609 90172609 G T rs138196132 KIF7 Synonymous SNV R1172R 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.575 128440 chr12 93398302 93398302 T C rs3924467 LOC643339 0 0 0.02 0 0 0 0 6 0 0 0 0 1.246 128441 chr15 81282062 81282067 AGCAGC - rs755118244 MESD L25_L26del 0.003 0.01 0 0 4 4 0 0 0 0 0 0 128442 chr12 94965063 94965063 T C rs150126516 MIR7844 0 0 0.003 0 0 0 0 1 0 0 0 0 3.808 128443 chr14 104643745 104643745 C T rs148588580 KIF26A Synonymous SNV A1540A 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 13.24 128444 chr16 30364960 30364960 C T rs773456140 CD2BP2 Synonymous SNV G179G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.81 128445 chr3 39176660 39176660 C T rs79015599 TTC21A Nonsynonymous SNV A939V 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 12.41 128446 chr16 3075805 3075805 G A rs587777030 THOC6 Nonsynonymous SNV G46R 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 33 128447 chr16 2225876 2225876 G A rs117821778 TRAF7 Synonymous SNV Q556Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.21 128448 chr13 103395425 103395425 C T rs41281662 CCDC168 Nonsynonymous SNV R2541H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.925 128449 chr13 103402341 103402341 G A CCDC168 Nonsynonymous SNV L236F 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 14.5 128450 chr13 103441551 103441551 G A POGLUT2 Synonymous SNV I368I 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 11.56 128451 chr13 109779873 109779873 C G rs147869634 MYO16 Synonymous SNV S1342S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.118 128452 chr16 3142120 3142120 C G rs867636940 ZSCAN10 Nonsynonymous SNV R198S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.09 128453 chr16 31487813 31487813 C T rs148448987 TGFB1I1 Synonymous SNV T300T 0.006 0 0 0 7 0 0 0 0 0 0 0 21 128454 chr16 10788710 10788710 A C TEKT5 Synonymous SNV T7T 0.001 0.008 0 6 1 3 0.015 0 0 0 0 0 0.068 128455 chr16 31734601 31734601 C T rs181532198 ZNF720 Synonymous SNV D51D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 128456 chr13 110831746 110831746 G A rs778390847 COL4A1 Nonsynonymous SNV P739L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 128457 chr16 10911991 10911991 C A TVP23A Stop gain E20X 0.001 0.008 0 6 1 3 0.015 0 0 0 0 0 38 128458 chr16 24953369 24953369 G A rs200945876 ARHGAP17 Synonymous SNV L477L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 128459 chr16 2812482 2812482 C T rs79910471 SRRM2 Synonymous SNV T651T 0.012 0.013 0.027 7 14 5 0.018 8 0 0 0 0 Benign 8.084 128460 chr13 111567117 111567117 G A rs138913654 ANKRD10 Synonymous SNV S55S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 128461 chr16 28331966 28331966 C T rs566370562 SBK1 Synonymous SNV P333P 0.01 0.003 0.003 1 12 1 0.003 1 0 0 0 0 15.98 128462 chr3 45637434 45637434 G A rs145308089 LIMD1 Nonsynonymous SNV A355T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.494 128463 chr16 28500688 28500688 T G CLN3 Nonsynonymous SNV N49H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 27.6 128464 chr4 170398474 170398474 A C rs34324114 NEK1 Nonsynonymous SNV N648K 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 128465 chr16 3486657 3486657 T A rs146018666 ZNF597 Nonsynonymous SNV M348L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.779 128466 chr16 3633195 3633195 C T rs751219957 SLX4 Nonsynonymous SNV A1686T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.351 128467 chr16 3712924 3712924 A G rs749530717 TRAP1 Nonsynonymous SNV W532R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.9 128468 chr16 3820723 3820723 T C rs143247685 CREBBP Nonsynonymous SNV T872A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 0.293 128469 chr3 47045449 47045449 G A rs372422378 NBEAL2 Nonsynonymous SNV R1921H 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Uncertain significance 23.7 128470 chr16 30594649 30594649 G A rs752178482 ZNF785 Synonymous SNV F150F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.23 128471 chr16 57732881 57732881 T G rs750086657 DRC7 Nonsynonymous SNV L108R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.9 128472 chr16 30762558 30762558 G A rs138299462 PHKG2 Nonsynonymous SNV R76Q 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 Uncertain significance 19.36 128473 chr13 24384047 24384047 A G rs139684349 MIPEP Nonsynonymous SNV M557T 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 128474 chr3 48476358 48476358 G A rs376560818 CCDC51 Nonsynonymous SNV P61S 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 0.576 128475 chr16 46952596 46952596 G A rs773223337 GPT2 Nonsynonymous SNV E222K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 128476 chr16 30941759 30941759 G A rs763734364 FBXL19 Synonymous SNV P405P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 128477 chr16 48218444 48218444 G A ABCC11 Synonymous SNV N1055N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.538 128478 chr16 48239406 48239406 C T rs571898857 ABCC11 Nonsynonymous SNV A575T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 128479 chr13 28366920 28366920 C T rs928160417 GSX1 Synonymous SNV Y31Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.003 128480 chr13 29933450 29933450 C T rs114541586 MTUS2 Nonsynonymous SNV P986L 0.002 0.008 0.02 1 2 3 0.003 6 0 0 0 0 32 128481 chr13 30061773 30061774 CA - MTUS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 128482 chr3 49758062 49758062 C T rs762516169 RNF123 Nonsynonymous SNV R1207W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.9 128483 chr13 31233013 31233013 A C rs780024476 USPL1 Nonsynonymous SNV E604D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 128484 chr16 53730140 53730140 T C RPGRIP1L Synonymous SNV E51E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.733 128485 chr13 31543032 31543032 G A rs141900798 TEX26 Synonymous SNV V88V 0.005 0.005 0.017 1 6 2 0.003 5 0 0 1 0 1.052 128486 chr16 11349126 11349126 G A rs558823996 SOCS1 Synonymous SNV A70A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.579 128487 chr16 11375042 11375042 C T rs35262993 PRM1 Synonymous SNV Q18Q 0.005 0 0.007 0 6 0 0 2 0 0 0 0 3.858 128488 chr3 50396018 50396018 C G rs765926145 TMEM115 Synonymous SNV L159L 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 6.673 128489 chr13 36776175 36776175 G A rs117864155 CCDC169-SOHLH2, SOHLH2 Nonsynonymous SNV T35I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 128490 chr13 41372944 41372944 C T rs2297013 TPTE2P5 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 2.835 128491 chr16 4431927 4431927 C T VASN Nonsynonymous SNV P350L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 128492 chr3 52544437 52544437 G A rs569908210 STAB1 Nonsynonymous SNV V901I 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 12.99 128493 chr13 41766615 41766615 A G KBTBD7 Synonymous SNV D593D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.212 128494 chr13 42481740 42481740 T G rs144244743 VWA8 Synonymous SNV T155T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.98 128495 chr16 58149257 58149257 G A rs144778705 CFAP20 Synonymous SNV D127D 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 10.58 128496 chr16 1486508 1486508 G A rs200290023 CCDC154 Synonymous SNV S475S 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 5.18 128497 chr16 21213575 21213575 G A rs182866863 ZP2 Synonymous SNV D379D 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.29 128498 chr14 31539110 31539110 T C rs753939291 AP4S1 Nonsynonymous SNV I67T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.6 128499 chr16 67289057 67289057 C T rs780350480 SLC9A5 Synonymous SNV G107G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.89 128500 chr16 68398690 68398690 C T rs117993033 SMPD3 Nonsynonymous SNV V507I 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 8.578 128501 chr13 49089391 49089391 - T rs767856805 RCBTB2 Frameshift insertion I76Nfs*27 0 0 0.003 0 0 0 0 1 0 0 0 0 128502 chr13 50964413 50964413 C T rs41284830 DLEU1 0 0 0.017 0 0 0 0 5 0 0 0 0 2.436 128503 chr16 74908146 74908146 G A rs61733724 WDR59 Synonymous SNV T962T 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 Benign 11.95 128504 chr16 76350368 76350368 C T rs115569134 CNTNAP4 Synonymous SNV S23S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.697 128505 chr16 19195208 19195208 C T rs149512546 SYT17 Synonymous SNV Y226Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.98 128506 chr3 65456154 65456154 A T rs62255274 MAGI1 Nonsynonymous SNV S255T 0.009 0.016 0 0 10 6 0 0 0 0 0 0 22.1 128507 chr3 66023891 66023891 C A rs142360191 MAGI1 Synonymous SNV T31T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21 128508 chr13 79176112 79176117 GCCGCT - POU4F1 A236_A237del 0 0 0.003 0 0 0 0 1 0 0 0 0 128509 chr3 69047185 69047185 C T EOGT Nonsynonymous SNV V270M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.3 128510 chr5 31526808 31526808 A T rs765422251 DROSHA Nonsynonymous SNV F78I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 128511 chr16 74922106 74922106 A G rs9940422 WDR59 Synonymous SNV P769P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 6.788 128512 chr16 75269646 75269646 C T rs776634985 BCAR1 Nonsynonymous SNV G174D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.303 128513 chr16 58589772 58589772 A G rs138261034 CNOT1 Synonymous SNV F835F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.684 128514 chr16 75564082 75564082 C T rs116025372 CHST5 Synonymous SNV V67V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.917 128515 chr3 89480493 89480493 C G rs34437982 EPHA3 Nonsynonymous SNV A777G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 22.7 128516 chr16 2133701 2133701 G A rs45517319 TSC2 Nonsynonymous SNV A1053T 0.009 0.01 0.003 6 11 4 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.16 128517 chr16 77246524 77246524 T G rs13339340 SYCE1L Nonsynonymous SNV V171G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.911 128518 chr5 36679739 36679739 G A rs143438887 SLC1A3 Nonsynonymous SNV V179M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 128519 chr16 2296910 2296910 G C rs140831866 ECI1 Nonsynonymous SNV L82V 0.009 0.008 0 4 10 3 0.01 0 0 0 0 0 14.97 128520 chr16 79632918 79632918 C T rs140303158 MAF Synonymous SNV R294R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.22 128521 chr16 80638291 80638291 T G rs759935300 CDYL2 Nonsynonymous SNV E505D 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 128522 chr16 23390083 23390083 G A SCNN1B Synonymous SNV L487L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 128523 chr16 66792690 66792690 G T rs758189236 TERB1 Nonsynonymous SNV T661N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 20.3 128524 chr14 103566583 103566583 T C rs2297068 EXOC3L4 Synonymous SNV P9P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.067 128525 chr14 103566774 103566774 C T rs61730322 EXOC3L4 Nonsynonymous SNV T73M 0.002 0 0.01 0 2 0 0 3 0 0 0 0 8.465 128526 chr16 67222988 67222988 C T rs998402749 EXOC3L1 Nonsynonymous SNV A48T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 4.933 128527 chr16 67424387 67424387 C T rs146906089 TPPP3 Nonsynonymous SNV V113I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 128528 chr14 103596719 103596719 T C rs971075944 TNFAIP2 Nonsynonymous SNV V389A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 128529 chr14 103807329 103807329 G A rs140137312 EIF5 Synonymous SNV P412P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.661 128530 chr3 101573934 101573934 A G rs187961189 NFKBIZ Nonsynonymous SNV N491S 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 25.6 128531 chr16 336701 336702 CT - rs201624048 PDIA2 L464Qfs*13 0.009 0.013 0.027 8 10 5 0.021 8 0 0 0 0 128532 chr14 104641549 104641549 C T rs367843200 KIF26A Synonymous SNV N808N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.236 128533 chr16 68961587 68961587 C G rs370068326 TANGO6 Nonsynonymous SNV I748M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25.5 128534 chr16 69056751 69056751 C T rs763066438 TANGO6 Stop gain R955X 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 42 128535 chr16 85945232 85945232 G A rs138032891 IRF8 Nonsynonymous SNV G149S 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Likely benign 7.916 128536 chr16 69362970 69362970 G A rs375069612 PDF Synonymous SNV D229D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.92 128537 chr16 4016010 4016010 G A rs199850891 ADCY9 Synonymous SNV D1276D 0 0.003 0 5 0 1 0.013 0 0 0 0 0 5.48 128538 chr4 114280302 114280302 G T ANK2 Nonsynonymous SNV A3510S 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 23.1 128539 chr3 110790879 110790879 G A rs139530035 NECTIN3 Synonymous SNV L5L 0.006 0.018 0 2 7 7 0.005 0 0 1 0 0 7.863 128540 chr3 110863855 110863855 A C rs3733174 NECTIN3 Synonymous SNV R370R 0.012 0.018 0.01 4 14 7 0.01 3 0 1 0 0 1.85 128541 chr16 28518102 28518102 G A rs753669713 IL27 Nonsynonymous SNV R11W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24 128542 chr16 28601725 28601725 C A rs147335263 SGF29 Synonymous SNV I176I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 20.4 128543 chr16 28948667 28948667 C T rs142818579 CD19 Nonsynonymous SNV S425F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 25.7 128544 chr16 30199727 30199727 G A rs778462244 CORO1A Nonsynonymous SNV D371N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.3 128545 chr16 88555464 88555464 G A rs148828760 ZFPM1 Synonymous SNV P57P 0.005 0.003 0.01 2 6 1 0.005 3 1 0 0 0 3.645 128546 chr16 75563842 75563842 C G CHST5 Synonymous SNV T147T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.996 128547 chr16 76461483 76461483 C T rs746752739 CNTNAP4 Synonymous SNV F46F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 128548 chr16 76573632 76573632 G T rs201517436 CNTNAP4 Nonsynonymous SNV R950S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 128549 chr14 68029475 68029475 A G PLEKHH1 Nonsynonymous SNV K376R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.22 128550 chr16 50346884 50346884 T C rs147484717 ADCY7 Synonymous SNV D896D 0.001 0 0 6 1 0 0.015 0 0 0 0 0 3.702 128551 chr16 31155064 31155064 C T rs147914949 PRSS36 Nonsynonymous SNV R272H 0.011 0.008 0 0 13 3 0 0 0 0 0 0 33 128552 chr16 77910336 77910336 T C rs146750061 VAT1L Synonymous SNV S264S 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 9.575 128553 chr16 3265567 3265568 TA - rs775026372 OR1F2P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 128554 chr4 140640650 140640650 G T MAML3 Nonsynonymous SNV Q1082K 0.008 0 0 5 9 0 0.013 0 0 0 0 0 25.3 128555 chr5 73128166 73128166 G A rs187897891 ARHGEF28 Nonsynonymous SNV R30H 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 21.4 128556 chr5 74069845 74069845 C T rs146708731 NSA2 Synonymous SNV S225S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 128557 chr16 335423 335423 C T rs200005538 PDIA2 Nonsynonymous SNV R303C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 128558 chr4 144621585 144621585 G A rs202139829 FREM3 Nonsynonymous SNV L82F 0.004 0.005 0.003 7 5 2 0.018 1 0 0 0 0 23.8 128559 chr14 74371633 74371633 G A rs200194535 ZNF410, ZNF410 Nonsynonymous SNV E181K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 128560 chr16 89645336 89645336 C T rs146913973 CPNE7 Synonymous SNV C143C 0.011 0.008 0.003 2 13 3 0.005 1 0 0 0 0 9.204 128561 chr16 89967090 89967090 A G rs201090603 TCF25 Synonymous SNV P423P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.167 128562 chr16 83781836 83781836 C T rs747067628 CDH13 Synonymous SNV L515L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.98 128563 chr16 84070338 84070338 G A rs138732860 SLC38A8 Synonymous SNV F119F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.01 128564 chr16 89643969 89643969 G A rs369107618 CPNE7 Nonsynonymous SNV R66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 128565 chr16 66612837 66612837 G A rs79874663 CKLF-CMTM1, CMTM1 Nonsynonymous SNV R94K 0 0 0.003 4 0 0 0.01 1 0 0 0 0 4.904 128566 chr5 80626219 80626219 T C rs78642785 ACOT12 Synonymous SNV T554T 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 0.99 128567 chr16 66613724 66613724 C T rs111592429 CMTM2 Nonsynonymous SNV R72W 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 23.9 128568 chr16 66643810 66643810 G A rs142471076 CMTM3 Nonsynonymous SNV V142M 0 0 0.003 4 0 0 0.01 1 0 0 0 0 29.6 128569 chr17 10265539 10265539 A G rs770526034 MYH13 Nonsynonymous SNV V134A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 128570 chr17 1387002 1387002 G C rs147453285 MYO1C Synonymous SNV V83V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 8.503 128571 chr16 67229802 67229802 - CAGCAGCAGCAG E2F4 S319_N320insSSSS 0 0 0 1 0 0 0.003 0 0 0 0 0 128572 chr16 67264579 67264579 C T rs781200583 FHOD1 Nonsynonymous SNV R928H 0 0 0 4 0 0 0.01 0 0 0 0 0 34 128573 chr4 166262923 166262923 A G rs184068460 MSMO1 Nonsynonymous SNV N105S 0 0 0 3 0 0 0.008 0 0 0 0 0 22.3 128574 chr16 5110300 5110300 G T rs768777165 C16orf89 Nonsynonymous SNV L166M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 128575 chr3 130110257 130110257 C G rs11925013 COL6A5 Synonymous SNV R884R 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 4.574 128576 chr4 170347307 170347307 G A NEK1 Synonymous SNV D891D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.657 128577 chr3 130124469 130124469 G A rs77730506 COL6A5 Nonsynonymous SNV G1440E 0.004 0.008 0 0 5 3 0 0 0 0 0 0 23.7 128578 chr16 68293296 68293296 C T rs749089659 PLA2G15 Synonymous SNV G325G 0 0 0 4 0 0 0.01 0 0 0 0 0 10.53 128579 chr14 91779979 91779979 C T rs201609345 CCDC88C Synonymous SNV E727E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.38 128580 chr14 91939438 91939438 G C PPP4R3A Nonsynonymous SNV H241Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.8 128581 chr14 92126304 92126304 C T rs147058492 CATSPERB Nonsynonymous SNV G437S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 128582 chr3 130188009 130188009 C T rs59160673 COL6A5 Synonymous SNV G2387G 0.004 0.008 0 0 5 3 0 0 0 0 0 0 10.18 128583 chr14 93290926 93290926 A C rs117821736 GOLGA5 Synonymous SNV T552T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 128584 chr14 50469912 50469912 G A rs117113415 LINC01588 0 0 0.003 0 0 0 0 1 0 0 0 0 7.994 128585 chr16 88786665 88786665 C T rs375228586 PIEZO1 Synonymous SNV T1992T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 14.89 128586 chr17 18863878 18863878 G A rs756020471 SLC5A10 Synonymous SNV E122E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 10.89 128587 chr16 602502 602502 G A rs57102163 CAPN15 Synonymous SNV P903P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.782 128588 chr4 187172931 187172931 G A rs141269743 KLKB1 Nonsynonymous SNV D354N 0 0 0 3 0 0 0.008 0 0 0 0 0 8.096 128589 chr16 72134386 72134386 C T rs775888068 DHX38 Nonsynonymous SNV R390W 0 0 0 5 0 0 0.013 0 0 0 0 0 34 128590 chr5 114513459 114513459 T C rs376452133 TRIM36 Synonymous SNV P58P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.245 128591 chr16 89261482 89261482 C A rs2270416 CDH15 Stop gain Y788X 0.007 0.003 0.024 2 8 1 0.005 7 0 0 0 0 Likely benign 35 128592 chr16 66643397 66643397 C T rs149217026 CMTM3 Synonymous SNV I121I 0.009 0.005 0.01 3 10 2 0.008 3 0 0 0 0 17.99 128593 chr3 148714104 148714104 A G rs148619511 GYG1 Synonymous SNV T53T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 1.128 128594 chr3 148744707 148744707 C A rs533834445 GYG1 Nonsynonymous SNV L257I 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 20.6 128595 chr16 89345513 89345513 G A rs148628471 ANKRD11 Synonymous SNV D2479D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.853 128596 chr5 118872184 118872184 C T rs28943592 HSD17B4 Nonsynonymous SNV T669I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 128597 chr3 148750058 148750058 G A rs548576604 HLTF Synonymous SNV D992D 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 3.914 128598 chr16 89347262 89347262 G C rs775035859 ANKRD11 Synonymous SNV A1896A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.228 128599 chr14 59112723 59112723 A G DACT1 Nonsynonymous SNV Q424R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 128600 chr3 148880043 148880043 G A rs78336249 HPS3 Nonsynonymous SNV G574R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 128601 chr5 121736821 121736821 G A rs562324777 SNCAIP Nonsynonymous SNV S2N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.953 128602 chr16 89789073 89789073 G A rs79631587 ZNF276 Nonsynonymous SNV V114I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 128603 chr5 1038088 1038088 C T rs185789971 NKD2 Nonsynonymous SNV T319M 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 0.018 128604 chr3 151165455 151165455 G A rs148376549 IGSF10 Stop gain R772X 0.008 0.01 0 0 9 4 0 0 0 0 0 0 35 128605 chr17 21438478 21438478 G A LINC02693 0.001 0 0 0 1 0 0 0 0 0 0 0 7.842 128606 chr17 25937150 25937150 T A rs762669057 KSR1 Synonymous SNV I761I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.85 128607 chr17 26691942 26691942 G A rs571305480 SEBOX Nonsynonymous SNV R23W 0.002 0 0 0 2 0 0 0 0 0 0 0 16.02 128608 chr17 11511497 11511497 A G rs137942596 DNAH9 Nonsynonymous SNV M157V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 128609 chr16 81232336 81232336 T C rs34276551 PKD1L2 Nonsynonymous SNV T492A 0.006 0.005 0.007 5 7 2 0.013 2 0 0 0 0 21.7 128610 chr5 10638148 10638148 A G rs78931230 ANKRD33B Nonsynonymous SNV I169V 0.003 0 0 5 3 0 0.013 0 0 0 0 0 18.06 128611 chr3 167254681 167254681 A G rs150216870 WDR49 Nonsynonymous SNV L292S 0.006 0.01 0 0 7 4 0 0 0 0 0 0 7.946 128612 chr3 169555396 169555396 C T rs78013694 LRRIQ4 Nonsynonymous SNV P554S 0.01 0.016 0.017 5 12 6 0.013 5 0 0 0 0 17.1 128613 chr17 1630823 1630823 C G rs766830327 WDR81 Nonsynonymous SNV P857R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 128614 chr14 73711673 73711673 G T rs2280794 LOC101928123 0 0 0.017 0 0 0 0 5 0 0 2 0 1.422 128615 chr17 27086435 27086435 G A rs200961802 FAM222B Nonsynonymous SNV P181L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 128616 chr17 27284413 27284413 C T rs117736100 SEZ6 Nonsynonymous SNV R816H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 128617 chr14 74188039 74188039 C T rs766538579 ELMSAN1 Synonymous SNV A966A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 128618 chr14 74205652 74205652 T C rs143490487 ELMSAN1 Nonsynonymous SNV I354V 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.012 128619 chr17 30216384 30216384 G C rs139868836 UTP6 Nonsynonymous SNV R155G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21 128620 chr17 1639000 1639000 C T rs144021458 WDR81 Nonsynonymous SNV P569S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25.3 128621 chr17 1649060 1649060 C T rs139043729 SERPINF2 Nonsynonymous SNV T75I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.56 128622 chr14 75143329 75143329 A G AREL1 Nonsynonymous SNV M203T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.314 128623 chr5 32387745 32387745 A G rs139829918 ZFR Synonymous SNV D803D 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 Benign 0.322 128624 chr5 140054324 140054324 G A rs766088180 HARS1 Synonymous SNV I352I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.43 128625 chr3 182925507 182925507 G A rs149453939 MCF2L2 Synonymous SNV P867P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.89 128626 chr16 83948787 83948787 G A rs201576638 MLYCD Nonsynonymous SNV R392Q 0.007 0 0 0 8 0 0 0 0 0 0 0 Uncertain significance 8.265 128627 chr17 33510544 33510544 G A rs757218162 UNC45B Synonymous SNV G745G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 128628 chr5 36985881 36985881 G A rs1031384711 NIPBL Nonsynonymous SNV E867K 0 0 0.003 3 0 0 0.008 1 0 0 0 0 18.53 128629 chr5 37183158 37183158 G A CPLANE1 Nonsynonymous SNV P1709S 0 0 0 3 0 0 0.008 0 0 0 0 0 13.51 128630 chr17 1840948 1840948 G A rs775110956 RTN4RL1 Synonymous SNV S56S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.378 128631 chr5 140752379 140752379 G T rs766593056 PCDHGB3 Synonymous SNV V806V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.88 128632 chr5 140755918 140755918 G A PCDHGA6 Synonymous SNV E756E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 128633 chr16 87678219 87678219 C T rs34442559 JPH3 Synonymous SNV S246S 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 15.13 128634 chr16 88493981 88493981 C G rs960633742 ZNF469 Nonsynonymous SNV L35V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.067 128635 chr5 140782906 140782906 C A PCDHGA9 Nonsynonymous SNV S129R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 128636 chr5 140783005 140783005 T G rs759998240 PCDHGA9 Synonymous SNV V162V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.093 128637 chr16 88495051 88495051 G C rs1001013200 ZNF469 Synonymous SNV L391L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.054 128638 chr5 140870518 140870518 T C rs778168052 PCDHGC5 Nonsynonymous SNV W571R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 128639 chr17 36881009 36881009 C T rs150198262 MLLT6 Nonsynonymous SNV A1007V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 128640 chr17 34893483 34893483 C G rs368008171 PIGW Nonsynonymous SNV S178C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 19.44 128641 chr5 141248994 141248994 G A rs12517385 PCDH1 Nonsynonymous SNV L31F 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign 23.3 128642 chr15 42434879 42434879 G A rs754971082 PLA2G4F Stop gain R726X 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 38 128643 chr16 85838697 85838697 T C rs4885 COX4I1 Star tloss M1? 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.174 128644 chr5 141354394 141354394 T G rs367880202 RNF14 Nonsynonymous SNV N60K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 128645 chr17 36484393 36484393 C T rs200260405 GPR179 Nonsynonymous SNV D1687N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.01 128646 chr14 92091313 92091313 T A rs781328597 CATSPERB Nonsynonymous SNV H594L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.89 128647 chr3 191098660 191098660 A G rs114502673 CCDC50 Nonsynonymous SNV K218R 0.01 0.016 0.01 3 12 6 0.008 3 0 0 0 0 Benign 24.6 128648 chr15 43585115 43585115 T A rs150973733 TGM7 Synonymous SNV T77T 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 14.48 128649 chr16 87678302 87678302 C T rs144403955 JPH3 Nonsynonymous SNV A274V 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 20.5 128650 chr16 88494752 88494752 G C ZNF469 Nonsynonymous SNV V292L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 128651 chr17 38418780 38418780 C T rs139822756 WIPF2 Nonsynonymous SNV P67L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 128652 chr17 37844144 37844144 A C rs150801318 PGAP3 Nonsynonymous SNV S42A 0.006 0.008 0.01 0 7 3 0 3 0 0 0 0 23.8 128653 chr14 94754684 94754684 C T rs148392580 SERPINA10 Nonsynonymous SNV A311T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.144 128654 chr17 2279446 2279446 A C rs144011285 SGSM2 Nonsynonymous SNV T789P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 24.4 128655 chr17 38420809 38420809 A G rs749249715 WIPF2 Synonymous SNV V127V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.549 128656 chr16 89180844 89180844 G A rs150487794 ACSF3 Nonsynonymous SNV E94K 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 128657 chr5 60839284 60839284 G A rs748023376 ZSWIM6 Nonsynonymous SNV V930I 0.003 0.003 0.003 8 3 1 0.021 1 0 0 0 0 16.72 128658 chr15 48057136 48057136 C T SEMA6D Nonsynonymous SNV T437I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 33 128659 chr5 149263002 149263002 C T rs148637474 PDE6A Nonsynonymous SNV E709K 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 32 128660 chr17 27239594 27239594 G A rs200620528 PHF12 Synonymous SNV N665N 0.003 0 0 0 4 0 0 0 0 0 0 0 4.707 128661 chr17 27308971 27308971 G T rs181031076 SEZ6 Nonsynonymous SNV P48T 0.011 0 0.007 0 13 0 0 2 0 0 0 0 Likely benign 17.52 128662 chr14 96968604 96968604 G T rs7160148 LOC730202 0 0 0.041 0 0 0 0 12 0 0 2 0 7.018 128663 chr5 149743800 149743800 G A rs200561413 TCOF1 Nonsynonymous SNV E97K 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 7.661 128664 chr15 100889179 100889179 A G rs2440464 SPATA41 0 0 0.02 0 0 0 0 6 0 0 2 0 0.152 128665 chr15 101093924 101093924 T A rs28538762 PRKXP1 0 0 0.034 0 0 0 0 10 0 0 5 0 5.446 128666 chr17 2995948 2995948 G A OR1D2 Synonymous SNV L115L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.76 128667 chr5 150095187 150095187 T C rs754863715 DCTN4 Nonsynonymous SNV K313R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.105 128668 chr5 71756745 71756745 G C rs569945690 ZNF366 Synonymous SNV S193S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.029 128669 chr4 1349001 1349001 G C UVSSA Nonsynonymous SNV D382H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.725 128670 chr16 89715771 89715771 C G CHMP1A Nonsynonymous SNV D74H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.825 128671 chr4 1803721 1803721 C T rs780313125 FGFR3 Nonsynonymous SNV P300L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 128672 chr17 39619114 39619114 C G rs138037859 KRT32 Synonymous SNV T395T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.28 128673 chr15 26108141 26108141 G C rs201984250 ATP10A Nonsynonymous SNV P35A 0.005 0.01 0.01 1 6 4 0.003 3 0 0 0 0 10.85 128674 chr17 33904285 33904285 C T rs150186509 PEX12 Nonsynonymous SNV R151H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.25 128675 chr15 29967322 29967322 C T rs80206768 LOC100130111 0 0 0.017 0 0 0 0 5 0 0 1 0 8.381 128676 chr15 30020170 30020170 G A rs28420381 TJP1 Synonymous SNV L691L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.31 128677 chr17 39680672 39680672 C T rs148803515 KRT19 Nonsynonymous SNV E261K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 128678 chr17 10618792 10618792 G C rs116497896 TMEM220 Nonsynonymous SNV T124S 0.008 0.005 0.007 8 9 2 0.021 2 0 0 0 0 12.92 128679 chr15 31619696 31619696 C T rs996814698 KLF13 Nonsynonymous SNV T94I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 128680 chr15 33069076 33069076 T G FMN1 Nonsynonymous SNV K1169T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 128681 chr15 33445438 33445438 G A rs149624435 FMN1 Nonsynonymous SNV R560C 0.003 0 0.01 5 4 0 0.013 3 0 0 0 0 Benign 16.55 128682 chr15 33941284 33941284 C T rs531084938 RYR3 Synonymous SNV Y1330Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.04 128683 chr15 33945019 33945019 G A rs777615310 RYR3 Nonsynonymous SNV V1415M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 128684 chr15 63419763 63419763 G A rs201235539 LACTB Nonsynonymous SNV R276Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 13.34 128685 chr17 16203290 16203290 C A rs115958467 PIGL Nonsynonymous SNV L142M 0.007 0.01 0.014 5 8 4 0.013 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 128686 chr5 81613822 81613822 A G rs553279470 ATP6AP1L Synonymous SNV Q126Q 0 0 0 3 0 0 0.008 0 0 0 0 0 0.238 128687 chr15 38230359 38230359 C A rs778817829 TMCO5A Nonsynonymous SNV L106I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 128688 chr17 41342727 41342727 C T rs200688322 NBR1 Nonsynonymous SNV S245F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 128689 chr5 89925201 89925201 G T rs199636312 ADGRV1 Nonsynonymous SNV A562S 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 7.081 128690 chr5 171626464 171626464 G C EFCAB9 Nonsynonymous SNV D72H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 128691 chr15 41772801 41772801 C T rs752719706 RTF1 Synonymous SNV T683T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.945 128692 chr17 43321334 43321334 G A rs768034689 FMNL1 Nonsynonymous SNV R797H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 128693 chr15 70961310 70961310 C T rs972902015 UACA Synonymous SNV E558E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.416 128694 chr15 42147885 42147885 A C rs754396835 SPTBN5 Nonsynonymous SNV M3027R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.995 128695 chr17 39032651 39032651 C T rs113823624 KRT20 Nonsynonymous SNV V413M 0.004 0 0.007 3 5 0 0.008 2 0 0 0 0 24.4 128696 chr15 71175167 71175167 G A rs12909568 THAP10 Synonymous SNV H170H 0.008 0.016 0.007 6 9 6 0.015 2 0 0 0 0 3.266 128697 chr15 42162471 42162471 C T SPTBN5 Synonymous SNV L1881L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.502 128698 chr17 19263652 19263652 T G B9D1 Nonsynonymous SNV Q38P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.07 128699 chr17 4447794 4447794 G A rs201061930 MYBBP1A Nonsynonymous SNV R877C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.9 128700 chr17 45914403 45914403 G A rs145648581 LRRC46 Nonsynonymous SNV A295T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.575 128701 chr15 43294763 43294763 T G rs747644799 UBR1 Nonsynonymous SNV K1217Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 128702 chr15 74707215 74707215 G A rs56079201 SEMA7A Synonymous SNV G339G 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 13.52 128703 chr17 46620605 46620605 T C rs373195673 HOXB2 Nonsynonymous SNV Q299R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.076 128704 chr15 45388158 45388158 G T rs766619891 DUOX2 Nonsynonymous SNV H1316Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 128705 chr15 80873642 80873642 C G rs79914316 ARNT2 Synonymous SNV T605T 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 12.25 128706 chr15 81234321 81234321 C T rs145535447 CEMIP Nonsynonymous SNV T1180I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 11.22 128707 chr15 51868380 51868380 - A rs35897652 DMXL2 0 0 0.003 0 0 0 0 1 0 0 0 0 128708 chr17 48614428 48614428 C T rs531362435 EPN3 Nonsynonymous SNV R171C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 128709 chr15 82337986 82337986 - GCC rs560390686 MEX3B G20_S21insG 0.004 0.013 0.003 1 5 5 0.003 1 0 0 0 0 128710 chr17 48917619 48917619 C T rs367803084 WFIKKN2 Nonsynonymous SNV P231S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.831 128711 chr15 83296111 83296111 T G rs202018031 CPEB1 Nonsynonymous SNV E8A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.63 128712 chr17 28644238 28644238 T A rs768054935 TMIGD1 Nonsynonymous SNV D253V 0 0 0 2 0 0 0.005 0 0 0 0 0 16.91 128713 chr17 27239630 27239630 C T rs144144007 PHF12 Synonymous SNV P653P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 13.98 128714 chr17 27286422 27286422 C T rs201206867 SEZ6 Nonsynonymous SNV G614S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 14.02 128715 chr17 5271679 5271679 C T rs117426331 RABEP1 Synonymous SNV V557V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 16.64 128716 chr4 40752830 40752830 G C rs34487249 NSUN7 Synonymous SNV T40T 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 7.748 128717 chr4 41747899 41747899 G T rs17885864 PHOX2B Synonymous SNV P290P 0.009 0.016 0.007 4 10 6 0.01 2 0 1 0 0 Benign 0.362 128718 chr15 59399638 59399638 C G rs371888839 CCNB2 Nonsynonymous SNV Q48E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.938 128719 chr17 29298215 29298215 C T rs559143316 RNF135 Nonsynonymous SNV R42C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 128720 chr5 132534846 132534846 G A rs150466282 FSTL4 Nonsynonymous SNV R824W 0.007 0.003 0 8 8 1 0.021 0 0 0 0 0 25.8 128721 chr6 8041395 8041395 C G rs746979922 BLOC1S5 Nonsynonymous SNV S101T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.14 128722 chr17 56271165 56271165 G A rs147335188 EPX Nonsynonymous SNV R146H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 128723 chr15 62534890 62534890 C T rs115110660 GOLGA2P11 0 0 0.02 0 0 0 0 6 0 0 0 0 6.788 128724 chr15 62538839 62538839 G A rs189062597 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 5.692 128725 chr17 42170825 42170825 T C rs138900388 HDAC5 Nonsynonymous SNV Q129R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.19 128726 chr15 65116425 65116425 G A rs77981470 PIF1 Nonsynonymous SNV A37V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.313 128727 chr17 58525122 58525122 G A rs141402840 APPBP2 Synonymous SNV S455S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.145 128728 chr17 42818791 42818791 G A rs143085789 DBF4B Synonymous SNV P267P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.482 128729 chr5 137802852 137802852 T C EGR1 Synonymous SNV P238P 0.009 0.008 0 8 10 3 0.021 0 0 0 0 0 0.607 128730 chr6 24843527 24843527 C T rs35514577 RIPOR2 Nonsynonymous SNV E474K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.93 128731 chr17 60814589 60814589 C T rs376661335 MARCHF10 Nonsynonymous SNV A214T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.233 128732 chr17 60814719 60814719 C T rs116846169 LOC105371855 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 3.046 128733 chr5 140073790 140073790 T C rs143687204 HARS2 Synonymous SNV Y83Y 0.007 0.003 0.003 6 8 1 0.015 1 0 0 0 0 Benign/Likely benign 1.124 128734 chr15 90177008 90177008 T C rs138354681 KIF7 Nonsynonymous SNV Q834R 0.007 0.013 0.007 4 8 5 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 27 128735 chr17 61620973 61620973 C T rs529652931 KCNH6 Nonsynonymous SNV P729S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.32 128736 chr15 72338423 72338423 G A rs2929516 MYO9A Nonsynonymous SNV T161I 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 Benign 25.5 128737 chr15 72338755 72338755 T G rs148946252 MYO9A Synonymous SNV I50I 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign 7.264 128738 chr15 73862566 73862566 G A rs148367676 NPTN Synonymous SNV L231L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.47 128739 chr15 91551191 91551191 A C VPS33B Nonsynonymous SNV V109G 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 26.7 128740 chr4 79207685 79207685 C G rs887056108 FRAS1 Nonsynonymous SNV S509C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.9 128741 chr17 38191981 38191981 C G MED24 Nonsynonymous SNV R94P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 128742 chr17 38859830 38859830 G A rs141408122 KRT24 Nonsynonymous SNV S39L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.39 128743 chr15 75105371 75105371 G A rs746024908 LMAN1L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 128744 chr17 6703404 6703404 C T rs376922291 TEKT1 Nonsynonymous SNV R400Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.24 128745 chr4 83861100 83861100 A G rs140374560 LIN54 Nonsynonymous SNV V306A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23 128746 chr16 1257092 1257092 C T rs58615599 CACNA1H Synonymous SNV L961L 0.012 0.01 0.007 1 14 4 0.003 2 0 0 0 0 Benign 11.68 128747 chr16 14341308 14341308 A G rs759489778 MRTFB Nonsynonymous SNV I720V 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 19.11 128748 chr16 14346255 14346255 G A rs143400741 MRTFB Nonsynonymous SNV V856I 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 13 128749 chr15 83316764 83316764 C T rs905037132 CPEB1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.29 128750 chr16 1538787 1538787 G A rs754269575 PTX4 Nonsynonymous SNV R42C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 9.752 128751 chr17 5462048 5462048 C T rs139136010 NLRP1 Synonymous SNV T656T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.914 128752 chr17 5462326 5462326 A G rs200729303 NLRP1 Synonymous SNV L564L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 128753 chr17 72342636 72342636 C T rs189039256 KIF19 Synonymous SNV R299R 0.01 0.003 0.01 2 12 1 0.005 3 0 0 0 0 12.35 128754 chr17 55946553 55946553 T C rs777662888 CUEDC1 Synonymous SNV G290G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 128755 chr16 1877560 1877560 C T FAHD1 Synonymous SNV D110D 0.01 0.01 0 0 12 4 0 0 0 0 0 0 17.3 128756 chr17 72560236 72560236 A G rs1048144396 CD300H, LOC100130520 Synonymous SNV S80S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.991 128757 chr17 56292126 56292126 C T rs200149256 MKS1 Nonsynonymous SNV R154H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 128758 chr4 105412094 105412096 GAG - rs750088127 CXXC4 S292del 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 128759 chr17 72860099 72860099 G A rs148352042 FDXR Nonsynonymous SNV R325C 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 128760 chr16 19639062 19639062 A G rs147480246 VPS35L Nonsynonymous SNV I373V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.904 128761 chr15 89398825 89398825 C A rs4080952 ACAN Synonymous SNV T1003T 0 0 0.014 0 0 0 0 4 0 0 0 0 8.198 128762 chr6 42200623 42200623 C T TRERF1 Nonsynonymous SNV S1045N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 128763 chr17 40468864 40468864 A G rs746221967 STAT3 Nonsynonymous SNV I717T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.44 128764 chr17 57079022 57079022 C T rs145524819 TRIM37 Nonsynonymous SNV E763K 0.001 0 0 0 1 0 0 0 0 0 0 0 28 128765 chr16 22144298 22144298 C T rs377509870 VWA3A Synonymous SNV G650G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 13.38 128766 chr5 159821051 159821051 C T rs144239469 ZBED8 Nonsynonymous SNV D483N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.6 128767 chr16 2235026 2235026 G A rs144019033 CASKIN1 Nonsynonymous SNV T417M 0.013 0.01 0 3 15 4 0.008 0 0 0 0 0 25.4 128768 chr6 43498523 43498523 T C rs41281818 XPO5 Synonymous SNV Q860Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.137 128769 chr17 42636001 42636001 C T rs574279557 FZD2 Synonymous SNV Y315Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.558 128770 chr17 62022382 62022382 G A rs72851170 SCN4A Synonymous SNV A1253A 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 Benign 16.55 128771 chr16 23640531 23640531 C A PALB2 Nonsynonymous SNV E860D 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Uncertain significance 24.7 128772 chr17 73895038 73895038 G A rs745415254 MRPL38 Nonsynonymous SNV R346W 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 23.3 128773 chr16 24805957 24805957 A T rs994893045 TNRC6A Nonsynonymous SNV I1149F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 128774 chr17 64219826 64219826 A T rs145202489 APOH Synonymous SNV P135P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.003 128775 chr16 2815313 2815313 G A rs200200979 SRRM2 Nonsynonymous SNV R1595H 0.012 0.013 0 0 14 5 0 0 0 0 0 0 Uncertain significance 12.56 128776 chr17 649037 649037 G A rs8078660 GEMIN4 Nonsynonymous SNV P749L 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 26.6 128777 chr4 134071865 134071865 C T rs115170715 PCDH10 Synonymous SNV D190D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 11.36 128778 chr4 134076090 134076090 C T PCDH10 Synonymous SNV A903A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 18.54 128779 chr17 74208478 74208478 G A rs746123082 RNF157 Synonymous SNV S58S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 13.79 128780 chr15 99768869 99768869 C T rs562314039 TTC23 Nonsynonymous SNV V17I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 128781 chr17 7454279 7454279 G A rs147826685 TNFSF12, TNFSF12-TNFSF13 Synonymous SNV Q119Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 6.837 128782 chr17 74868888 74868888 G A rs370561982 MGAT5B Synonymous SNV T19T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.398 128783 chr17 6674301 6674301 C T rs377021489 XAF1 Stop gain Q213X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 37 128784 chr16 30078805 30078805 C T rs758280973 ALDOA Synonymous SNV T49T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.79 128785 chr17 67132291 67132291 A C rs749586434 ABCA6 Synonymous SNV S134S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 128786 chr16 11647433 11647433 G A rs34448402 LITAF Synonymous SNV A111A 0.012 0.003 0.003 2 14 1 0.005 1 0 0 0 0 Benign 10.53 128787 chr16 11868130 11868130 G A rs777025918 ZC3H7A Synonymous SNV L289L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 128788 chr17 48245770 48245770 C A rs35130237 SGCA Nonsynonymous SNV R141S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 128789 chr17 48504265 48504265 G A rs189245546 ACSF2 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.909 128790 chr17 708346 708346 G A rs146444754 NXN Nonsynonymous SNV A213V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 14.7 128791 chr6 56357028 56357028 C T DST Synonymous SNV K4295K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 128792 chr17 71232931 71232931 G A rs141607167 C17orf80 Nonsynonymous SNV R437H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.053 128793 chr17 48628408 48628408 C T rs147951599 SPATA20 Nonsynonymous SNV S462L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 34 128794 chr16 1435232 1435232 C A UNKL Nonsynonymous SNV S414I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 128795 chr6 64421687 64421687 T A rs62001889 PHF3 Synonymous SNV S1313S 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 0.469 128796 chr16 31142251 31142251 C G KAT8 Nonsynonymous SNV R448G 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 8.653 128797 chr17 76967805 76967805 G A rs61729727 LGALS3BP Synonymous SNV F537F 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 9.254 128798 chr17 76968417 76968417 A G rs61734154 LGALS3BP Synonymous SNV R333R 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 0.07 128799 chr17 77758234 77758234 A G rs201075939 CBX2 Nonsynonymous SNV H331R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 128800 chr17 77043759 77043759 C T rs34874100 C1QTNF1 Synonymous SNV Y63Y 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 10.05 128801 chr17 7801847 7801847 C A rs34941534 CHD3 Synonymous SNV P754P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 17.38 128802 chr17 77081388 77081388 G A rs61729126 ENGASE Nonsynonymous SNV R555H 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 19.1 128803 chr17 7756736 7756736 C T rs936866460 KDM6B Nonsynonymous SNV A1649V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.21 128804 chr16 19278323 19278323 C T rs145703934 SYT17 Synonymous SNV A446A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 16.34 128805 chr6 73879527 73879527 A G rs750580602 KCNQ5 Synonymous SNV V500V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.8 128806 chr6 73933501 73933501 G A rs1055745 KHDC1L Synonymous SNV S119S 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 10.95 128807 chr6 4130638 4130638 G A rs777148496 ECI2 Nonsynonymous SNV R127W 0 0 0 5 0 0 0.013 0 0 0 0 0 32 128808 chr6 73951780 73951780 C T rs199949364 KHDC1 Nonsynonymous SNV R98Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.33 128809 chr17 72560345 72560345 C T rs76048770 CD300H, LOC100130520 Nonsynonymous SNV R44Q 0.009 0.018 0 5 11 7 0.013 0 0 0 0 0 3.842 128810 chr6 74073460 74073460 C G rs61746688 KHDC3L Synonymous SNV A177A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.36 128811 chr6 74476679 74476679 G A rs147947606 CD109 Synonymous SNV S404S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.79 128812 chr6 74520733 74520733 A G rs199640404 CD109 Nonsynonymous SNV K1112E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 128813 chr16 4253183 4253183 C T rs547917688 SRL Synonymous SNV R81R 0.016 0.016 0 0 19 6 0 0 1 0 0 0 15.86 128814 chr17 73498837 73498837 C T rs373943991 CASKIN2 Nonsynonymous SNV G691D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 128815 chr6 83775402 83775402 C A UBE3D Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 128816 chr16 4727507 4727507 A C rs775285608 MGRN1 Synonymous SNV P333P 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.006 128817 chr17 79517729 79517729 G A rs62076033 FAAP100 Nonsynonymous SNV A264V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.06 128818 chr16 2489415 2489415 T C rs771544471 CCNF Nonsynonymous SNV L219P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.3 128819 chr6 88060122 88060122 G A C6orf163 Nonsynonymous SNV R85H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.354 128820 chr6 90381935 90381935 G A rs768870809 MDN1 Nonsynonymous SNV T4593I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 128821 chr6 24480164 24480164 C G GPLD1 Synonymous SNV A59A 0 0 0 4 0 0 0.01 0 0 0 0 0 13.13 128822 chr6 90450026 90450026 T A rs114779526 MDN1 Nonsynonymous SNV E1507V 0.003 0.016 0.003 3 3 6 0.008 1 0 0 0 0 26.2 128823 chr16 53256581 53256581 A G rs777950199 CHD9 Nonsynonymous SNV K604E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 128824 chr8 6682848 6682848 C G rs201724060 XKR5 Nonsynonymous SNV S89T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 6.675 128825 chr6 26184034 26184034 C T rs148688357 H2BC6 Nonsynonymous SNV P4L 0 0 0 3 0 0 0.008 0 0 0 0 0 13.6 128826 chr6 26205169 26205169 C T rs143023780 H4C5 Synonymous SNV Y99Y 0 0 0 4 0 0 0.01 0 0 0 0 0 10.91 128827 chr16 30124726 30124726 C T rs370961944 GDPD3 Nonsynonymous SNV R25Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 128828 chr17 67075200 67075200 A G rs769916771 ABCA6 Nonsynonymous SNV S1590P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.5 128829 chr6 105224978 105224978 A G rs149983249 HACE1 Synonymous SNV I465I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 1.308 128830 chr16 3109293 3109293 C T rs7206865 MMP25-AS1 0 0 0.01 0 0 0 0 3 0 0 1 0 7.802 128831 chr5 1409226 1409226 G C rs8179035 SLC6A3 Synonymous SNV V471V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 4.927 128832 chr16 57764973 57764973 G C rs148521651 DRC7 Nonsynonymous SNV R776P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 128833 chr5 6623354 6623354 C T rs144888290 NSUN2 Synonymous SNV L135L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 8.754 128834 chr18 13056320 13056320 C T CEP192 Nonsynonymous SNV P1244L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.98 128835 chr18 13067876 13067876 A T CEP192 Nonsynonymous SNV Y1512F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.1 128836 chr16 34404608 34404608 G C rs533136672 UBE2MP1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.287 128837 chr16 3613239 3613239 C T rs8057436 NLRC3 Nonsynonymous SNV V567M 0.006 0.01 0.01 5 7 4 0.013 3 0 0 0 0 0.015 128838 chr16 3614694 3614694 C T rs61732418 NLRC3 Nonsynonymous SNV G82R 0.006 0.01 0.01 5 7 4 0.013 3 0 0 0 0 0.458 128839 chr16 427549 427549 C T rs748980628 TMEM8A Synonymous SNV P112P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 128840 chr16 69942722 69942722 A C WWP2 Nonsynonymous SNV T209P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.9 128841 chr16 46652262 46652262 T C rs148413248 SHCBP1 Synonymous SNV S42S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.069 128842 chr18 2891544 2891544 A G rs779839700 EMILIN2 Synonymous SNV E473E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.332 128843 chr16 70295010 70295010 T C rs140678149 AARS1 Synonymous SNV L574L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.794 128844 chr16 47730296 47730296 C A rs909823103 PHKB Nonsynonymous SNV P967Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 128845 chr18 2937815 2937815 G A rs34676691 LPIN2 Nonsynonymous SNV P348L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.02 128846 chr18 2960725 2960725 C T LPIN2 Synonymous SNV Q38Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.01 128847 chr16 49433158 49433158 T C C16orf78 Nonsynonymous SNV V256A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 128848 chr17 72588793 72588793 G A rs752488459 C17orf77 Nonsynonymous SNV G203E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.527 128849 chr6 130535581 130535581 A G SAMD3 Nonsynonymous SNV M81T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 128850 chr6 131148631 131148631 T G SMLR1 Synonymous SNV T26T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 128851 chr17 73872149 73872149 T C rs767137018 TRIM47 Nonsynonymous SNV D345G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.4 128852 chr16 56377793 56377793 C T GNAO1 Synonymous SNV I332I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.38 128853 chr16 56448241 56448241 C T rs755567251 AMFR Nonsynonymous SNV A91T 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 128854 chr17 7948295 7948295 G T ALOX15B Synonymous SNV G275G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.818 128855 chr16 737600 737600 G A rs374125425 WDR24 Synonymous SNV N207N 0.01 0.01 0 0 12 4 0 0 0 0 0 0 0.006 128856 chr6 134312337 134312337 G C rs748629980 SLC2A12 Nonsynonymous SNV L604V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.85 128857 chr6 44199772 44199772 C A rs372644592 SLC29A1 Nonsynonymous SNV T327N 0.002 0 0 4 2 0 0.01 0 0 0 0 0 26.3 128858 chr16 57015093 57015093 C T rs747146078 CETP Synonymous SNV A330A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 128859 chr16 57060844 57060844 C A rs754650119 NLRC5 Synonymous SNV A663A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 128860 chr16 57092905 57092905 T C rs145714085 NLRC5 Synonymous SNV S1255S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 128861 chr5 43298200 43298200 A G rs770255909 HMGCS1 Nonsynonymous SNV V162A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.1 128862 chr16 57849355 57849355 C T rs572174056 LOC388282 Synonymous SNV P105P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.255 128863 chr6 145157008 145157008 A C rs750828413 UTRN Nonsynonymous SNV K3253T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 128864 chr17 75398647 75398647 C T SEPTIN9 Nonsynonymous SNV P188S 0.004 0 0 0 5 0 0 0 0 0 0 0 6.565 128865 chr5 52096486 52096486 C T rs141211888 PELO Synonymous SNV T86T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.846 128866 chr6 146755544 146755544 - CCCGCC rs767975371 GRM1 P1072_Q1073insPP 0.001 0 0 0 1 0 0 0 0 0 0 0 128867 chr16 58426551 58426553 GAG - rs760496922 GINS3 E17del 0 0 0.003 0 0 0 0 1 0 0 0 0 128868 chr17 76134783 76134783 C T rs137975524 TMC8 Nonsynonymous SNV A598V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 24.8 128869 chr17 76422643 76422643 G T rs112017999 DNAH17 Synonymous SNV S4270S 0.006 0 0 2 7 0 0.005 0 0 0 0 0 36 128870 chr6 150016315 150016315 T C rs147326739 LATS1 Nonsynonymous SNV I131V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.96 128871 chr16 81249868 81249868 C G PKD1L2 Nonsynonymous SNV A149P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24 128872 chr16 66944260 66944260 G C rs142042494 CDH16 Nonsynonymous SNV S593R 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 0.02 128873 chr17 80674650 80674650 C T rs764638305 FN3KRP Nonsynonymous SNV R7C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 128874 chr16 68961931 68961931 A G rs777468566 TANGO6 Nonsynonymous SNV H863R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 128875 chr16 83992905 83992905 C T rs370191879 OSGIN1 Synonymous SNV S36S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.88 128876 chr6 52762717 52762717 T C rs139422505 GSTA3 Nonsynonymous SNV N101S 0.009 0.005 0 10 10 2 0.026 0 0 0 0 0 21.8 128877 chr17 76400163 76400163 C T rs149054158 PGS1 Synonymous SNV H465H 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 12.32 128878 chr16 74496013 74496013 G A rs144198850 GLG1 Synonymous SNV L994L 0 0.003 0.01 0 0 1 0 3 0 0 0 0 10.54 128879 chr16 74760166 74760166 G T rs138892784 FA2H Synonymous SNV T190T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.249 128880 chr17 78327279 78327279 G C rs373133054 RNF213-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 3.598 128881 chr16 85015489 85015489 C A ZDHHC7 Nonsynonymous SNV A143S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 35 128882 chr16 85711878 85711878 G A rs200190343 GINS2 Synonymous SNV H166H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 4.134 128883 chr17 77808528 77808528 G T CBX4 Nonsynonymous SNV P305T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.012 128884 chr5 75913927 75913927 C T rs140212772 F2RL2 Nonsynonymous SNV R180Q 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 22.9 128885 chr6 160494432 160494432 C T rs56029582 IGF2R Synonymous SNV L1626L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.044 128886 chr16 84092973 84092973 C T rs763683064 MBTPS1 Nonsynonymous SNV R922Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 128887 chr6 76596587 76596587 C T rs55662069 MYO6 Nonsynonymous SNV T845I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 128888 chr18 2539092 2539092 A G rs377473138 METTL4 Nonsynonymous SNV S412P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.955 128889 chr6 167721297 167721297 C T UNC93A Nonsynonymous SNV A294V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 128890 chr6 88311578 88311578 G A rs146668920 ORC3 Synonymous SNV Q52Q 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 8.333 128891 chr6 89601534 89601534 C T rs140205258 RNGTT Nonsynonymous SNV G202D 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 128892 chr6 168710914 168710914 G A rs115289777 DACT2 Nonsynonymous SNV P28S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 128893 chr6 169640686 169640686 G A rs148807753 THBS2 Nonsynonymous SNV S298L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 128894 chr6 170043831 170043831 A C rs201488884 WDR27 Nonsynonymous SNV F379C 0.009 0 0 4 10 0 0.01 0 0 0 0 0 10.43 128895 chr6 170068107 170068107 T G rs41265387 WDR27 Nonsynonymous SNV I211L 0.013 0 0 6 15 0 0.015 0 1 0 0 0 12.5 128896 chr17 79358919 79358919 G A LOC100130370 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.775 128897 chr19 10197690 10197690 G A rs754631429 SHFL Nonsynonymous SNV G36D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 128898 chr19 10205464 10205464 C T rs766174910 ANGPTL6 Nonsynonymous SNV G245S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.469 128899 chr6 170871055 170871064 GCAGCAGCAG - rs773085804 TBP Q57Hfs*64 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 128900 chr6 100868779 100868779 G A rs3734354 SIM1 Nonsynonymous SNV P352S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 19.95 128901 chr16 89778932 89778932 - G rs143123169 VPS9D1 0.013 0.013 0 4 15 5 0.01 0 0 0 0 0 128902 chr7 2581757 2581757 G C rs373020561 BRAT1 Nonsynonymous SNV P163A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Uncertain significance 0.018 128903 chr16 90106783 90106783 A T GAS8 Stop gain K171X 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 38 128904 chr16 9858605 9858605 C G rs765941753 GRIN2A Nonsynonymous SNV M932I 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Uncertain significance 13.9 128905 chr19 10655710 10655710 G - rs760386391 ATG4D G71Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 128906 chr19 10403483 10403483 C T rs772721226 ICAM5 Nonsynonymous SNV T386I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.69 128907 chr17 10265700 10265700 G A rs200117357 MYH13 Nonsynonymous SNV R109C 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 28.3 128908 chr18 47421360 47421360 C T rs374195912 MYO5B Nonsynonymous SNV R999H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 128909 chr17 10428271 10428271 G T rs138393827 MYH2 Nonsynonymous SNV L1592M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.787 128910 chr18 21330929 21330929 T - LAMA3 F245Sfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 128911 chr16 89784334 89784340 CCCCCGA - rs754789747 VPS9D1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 128912 chr17 12905765 12905765 C T rs200565641 ELAC2 Nonsynonymous SNV R364H 0.005 0.013 0 4 6 5 0.01 0 0 0 0 0 15.77 128913 chr16 89784344 89784369 CTGTGCTCCCACGTCCAGTGGCTCCC - VPS9D1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 128914 chr19 11436182 11436182 G A rs368141695 RAB3D Synonymous SNV C184C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.78 128915 chr17 1424929 1424929 T G PITPNA Nonsynonymous SNV K260T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 128916 chr6 117865712 117865712 G A rs148455716 DCBLD1 Nonsynonymous SNV R460H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.924 128917 chr18 55342182 55342182 G A rs751490232 ATP8B1 Nonsynonymous SNV A518V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.141 128918 chr17 15965179 15965179 C T rs756042970 NCOR1 Nonsynonymous SNV S1822N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.12 128919 chr6 126199420 126199420 G A rs12197161 NCOA7 Synonymous SNV Q17Q 0.004 0 0 5 5 0 0.013 0 0 0 0 0 8.383 128920 chr6 127770982 127770982 C T rs75605019 KIAA0408 Nonsynonymous SNV R188Q 0.001 0.003 0 6 1 1 0.015 0 0 0 0 1 15.9 128921 chr19 11559075 11559075 C T rs145877768 PRKCSH Nonsynonymous SNV R379W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 128922 chr19 14159807 14159807 G A rs370071884 IL27RA Nonsynonymous SNV G386R 0.003 0 0 0 4 0 0 0 0 0 0 0 24 128923 chr18 21512224 21512224 G A rs750346605 LAMA3 Nonsynonymous SNV E1228K 0 0 0 3 0 0 0.008 0 0 0 0 0 26.5 128924 chr19 12738891 12738891 T C rs201911368 ZNF791 Nonsynonymous SNV I183T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.245 128925 chr19 1487275 1487275 G A rs767882439 PCSK4 Synonymous SNV I240I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 10.37 128926 chr19 13221085 13221085 G A rs368603050 TRMT1 Synonymous SNV R302R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.59 128927 chr19 13318673 13318675 CTG - rs370146696 CACNA1A Q2325del 0.011 0.013 0.007 11 13 5 0.028 2 3 1 0 4 128928 chr17 17398761 17398761 T G rs776140093 RASD1 Nonsynonymous SNV E175A 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 28 128929 chr8 142222432 142222432 T G SLC45A4 Nonsynonymous SNV E671A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.92 128930 chr19 1462119 1462119 G A rs150888374 APC2 Nonsynonymous SNV S598N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.4 128931 chr17 18219607 18219607 G A rs117521287 SMCR8 Synonymous SNV Q168Q 0.01 0.021 0.007 4 12 8 0.01 2 1 0 0 0 0.653 128932 chr19 1506620 1506620 G A rs771249773 ADAMTSL5 Synonymous SNV H361H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.434 128933 chr18 29039944 29039944 C T rs142808551 DSG3 Synonymous SNV V218V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 15.12 128934 chr6 138753221 138753221 G C rs138276881 NHSL1 Nonsynonymous SNV P758R 0.001 0 0 6 1 0 0.015 0 0 0 0 1 25 128935 chr17 19213219 19213219 C T EPN2 Nonsynonymous SNV S206F 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 31 128936 chr18 39618752 39618752 G A PIK3C3 Nonsynonymous SNV R596Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 128937 chr19 15759997 15759997 G C rs200142901 CYP4F3 Nonsynonymous SNV G185R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.1 128938 chr19 15852841 15852841 G A rs114568044 OR10H3 Synonymous SNV L213L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.82 128939 chr17 1840819 1840819 G A rs745911430 RTN4RL1 Synonymous SNV F99F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.158 128940 chr5 139820609 139820609 A T ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV E265D 0 0.005 0.003 0 0 2 0 1 0 0 0 0 19.75 128941 chr19 15571877 15571877 G A rs186975895 RASAL3 Synonymous SNV N200N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.88 128942 chr19 16918593 16918593 G T rs146553378 NWD1 Nonsynonymous SNV E1105D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 24.3 128943 chr6 152461162 152461162 C T rs119103248 SYNE1 Nonsynonymous SNV E639K 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 128944 chr17 21319309 21319309 C T rs373903627 KCNJ12, KCNJ18 Nonsynonymous SNV R219C 0.001 0 0.014 0 1 0 0 4 0 0 0 0 31 128945 chr19 16918932 16918932 C T rs919506830 NWD1 Synonymous SNV F1218F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.166 128946 chr18 77894359 77894359 G A rs762460785 ADNP2 Nonsynonymous SNV V355I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 128947 chr19 17622674 17622674 G A rs776485346 PGLS Nonsynonymous SNV A65T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.926 128948 chr7 43540840 43540840 G A rs117557838 HECW1 Nonsynonymous SNV V1150I 0.002 0.013 0.01 5 2 5 0.013 3 0 0 0 0 20.8 128949 chr7 43540841 43540841 T C rs116945469 HECW1 Nonsynonymous SNV V1150A 0.002 0.013 0.01 5 2 5 0.013 3 0 0 0 0 22.3 128950 chr7 43982358 43982358 C T rs146469919 POLR2J4 0.001 0 0 0 1 0 0 0 0 0 0 0 8.414 128951 chr17 26879431 26879433 GCC - rs933335697 UNC119 G48_P49delinsA 0 0 0.003 0 0 0 0 1 0 0 0 0 128952 chr17 26879434 26879434 C T rs1051939683 UNC119 Nonsynonymous SNV G48R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 128953 chr6 159457161 159457161 A C rs139559821 TAGAP Nonsynonymous SNV C569G 0.001 0 0 8 1 0 0.021 0 0 0 0 0 0.001 128954 chr19 17373453 17373453 G A rs369018466 USHBP1 Nonsynonymous SNV R120W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 128955 chr6 159621552 159621552 A G rs992167614 FNDC1 Synonymous SNV E133E 0 0 0 3 0 0 0.008 0 0 0 0 0 8.593 128956 chr17 27382878 27382878 C T rs143566431 PIPOX Synonymous SNV D338D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 128957 chr6 159653689 159653689 A G rs560618748 FNDC1 Synonymous SNV P715P 0.002 0 0 8 2 0 0.021 0 0 0 0 0 7.391 128958 chr17 27939436 27939436 C T rs145870428 ANKRD13B Synonymous SNV H425H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.66 128959 chr17 30980867 30980867 G T MYO1D Synonymous SNV V863V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.494 128960 chr19 17845111 17845111 G C rs200551809 MAP1S Synonymous SNV V992V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.799 128961 chr19 10395502 10395502 G A rs41276880 ICAM1 Synonymous SNV T408T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 10.96 128962 chr6 166864693 166864693 G A rs4710047 RPS6KA2 Synonymous SNV N270N 0 0 0.003 5 0 0 0.013 1 0 0 0 0 2.096 128963 chr17 35837073 35837073 A G rs376913298 TADA2A Nonsynonymous SNV I440V 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 23.3 128964 chr19 20308149 20308149 C G rs184976796 ZNF486 Stop gain Y210X 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 32 128965 chr7 55240803 55240803 C T rs55669340 EGFR Synonymous SNV L416L 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign 15.13 128966 chr19 20308488 20308488 G T rs181719180 ZNF486 Synonymous SNV T323T 0.006 0.003 0.01 4 7 1 0.01 3 0 0 0 0 3.702 128967 chr19 2046433 2046433 G A rs56307191 MKNK2 Synonymous SNV D58D 0.012 0.01 0.014 4 14 4 0.01 4 0 0 0 0 11.46 128968 chr19 1056180 1056180 G A rs149293300 ABCA7 Nonsynonymous SNV D1452N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.1 128969 chr6 167753791 167753791 C A rs141913143 TTLL2 Nonsynonymous SNV H135N 0 0 0 3 0 0 0.008 0 0 0 0 0 23 128970 chr19 20807526 20807526 G A rs199778234 ZNF626 Nonsynonymous SNV T386M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 128971 chr7 56146634 56146634 G T rs145138273 SUMF2 Nonsynonymous SNV G266C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.654 128972 chr19 21720223 21720223 C T rs202239129 ZNF429 Synonymous SNV N392N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.25 128973 chr19 2251829 2251829 C T rs200031151 AMH Nonsynonymous SNV A519V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 6.346 128974 chr19 18980186 18980186 C A rs775584529 GDF1 Synonymous SNV R113R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 128975 chr18 77917844 77917844 - G rs779188498 PARD6G Frameshift insertion Q314Pfs*73 0.002 0 0 0 2 0 0 0 0 0 0 0 128976 chr7 72967968 72967968 A C rs150783798 BCL7B Nonsynonymous SNV V12G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 1.126 128977 chr19 19329862 19329862 G A rs201414540 NCAN Nonsynonymous SNV R71Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.448 128978 chr17 36880943 36880943 T C MLLT6 Nonsynonymous SNV M985T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.65 128979 chr19 19606991 19606991 A G rs2288851 GATAD2A Nonsynonymous SNV N296S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 8.856 128980 chr19 20045579 20045579 C T rs116344204 ZNF93 Synonymous SNV P605P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.798 128981 chr19 20229938 20229938 T C rs61748969 ZNF90 Synonymous SNV S525S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.986 128982 chr7 73922465 73922465 C T rs139144176 GTF2IRD1 Nonsynonymous SNV R19C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 128983 chr19 11598527 11598527 C T rs140179197 ZNF653 Nonsynonymous SNV V251M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.23 128984 chr5 167645404 167645404 A G rs769161416 TENM2 Nonsynonymous SNV Q1264R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.16 128985 chr19 12863448 12863448 C T rs200272142 BEST2 Synonymous SNV F14F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.07 128986 chr17 38938636 38938636 C A rs776437171 KRT27 Nonsynonymous SNV G37V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.25 128987 chr17 39020022 39020022 A G rs139647784 KRT12 Nonsynonymous SNV M301T 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Likely benign 23.8 128988 chr19 10305515 10305515 G A DNMT1 Nonsynonymous SNV P21S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 128989 chr17 39037000 39037000 G A rs143378689 KRT20 Nonsynonymous SNV R166C 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Likely benign 20.3 128990 chr19 1360706 1360706 C T rs147128378 PWWP3A Synonymous SNV D194D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 128991 chr19 22270959 22270959 G A ZNF257 Nonsynonymous SNV C60Y 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.224 128992 chr5 176004542 176004542 C T CDHR2 Nonsynonymous SNV A446V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.31 128993 chr7 87477257 87477257 G A rs724665 SLC25A40 Nonsynonymous SNV T123I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 128994 chr17 39197173 39197173 A G rs144980478 KRTAP1-1 Synonymous SNV C159C 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 4.634 128995 chr17 39316851 39316865 GCAGCAGGTGGTCTG - rs750219710 KRTAP4-4 Q27_C31del 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 128996 chr17 39657519 39657519 G A rs146666963 KRT13 Nonsynonymous SNV R456C 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Benign 23.2 128997 chr19 10663569 10663571 CTC - rs552538726 ATG4D S357del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 128998 chr5 176522545 176522545 G A rs199694646 FGFR4 Nonsynonymous SNV V508M 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 27.3 128999 chr5 176522697 176522697 A T rs372890596 FGFR4 Synonymous SNV R558R 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 4.985 129000 chr17 3974056 3974056 T C rs371660444 ZZEF1 Nonsynonymous SNV I1333V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.657 129001 chr5 176935533 176935533 C T rs199989872 DOK3 Nonsynonymous SNV R26Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 34 129002 chr5 176942240 176942240 C T rs149122003 DDX41 Synonymous SNV K71K 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 16.12 129003 chr19 15364453 15364453 G A BRD4 Nonsynonymous SNV S767F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.867 129004 chr5 177690264 177690264 C T rs199648646 COL23A1 Nonsynonymous SNV R195Q 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 23.4 129005 chr7 94049588 94049588 G A rs72658163 COL1A2 Nonsynonymous SNV R708Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 129006 chr19 36214780 36214780 C G rs748861506 KMT2B Nonsynonymous SNV S1069C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 129007 chr7 98467462 98467462 C T rs201763115 TMEM130 Nonsynonymous SNV R8H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 129008 chr7 23383339 23383339 T C rs150697725 IGF2BP3 Nonsynonymous SNV N359D 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 20.8 129009 chr17 39977305 39977305 A G rs146701946 FKBP10 Nonsynonymous SNV I455V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 129010 chr17 42152708 42152708 G A rs140294222 G6PC3 Nonsynonymous SNV R189Q 0.007 0.008 0.003 7 8 3 0.018 1 0 0 0 1 Likely benign 23 129011 chr19 14200738 14200738 G A rs541253247 SAMD1 Synonymous SNV G165G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 3.881 129012 chr17 43009586 43009586 G A rs149127441 KIF18B Synonymous SNV P421P 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 9.576 129013 chr17 43012199 43012199 C T KIF18B Synonymous SNV Q192Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.5 129014 chr19 17597999 17597999 C T rs747951000 SLC27A1 Synonymous SNV S193S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 14.03 129015 chr6 2766092 2766092 C T rs987982890 WRNIP1 Nonsynonymous SNV A79V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 129016 chr19 35757323 35757323 T C rs373802174 LSR Synonymous SNV Y220Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.014 129017 chr19 38383331 38383331 G A WDR87 Synonymous SNV D1004D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.376 129018 chr17 45017965 45017965 G T rs575057184 GOSR2 Nonsynonymous SNV A162S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.1 129019 chr19 36033447 36033447 C T GAPDHS Nonsynonymous SNV A199V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 129020 chr19 38655386 38655386 G A rs781152414 SIPA1L3 Nonsynonymous SNV A1350T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.334 129021 chr17 46023297 46023297 A G rs745757220 PNPO Nonsynonymous SNV K163R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 129022 chr19 15636307 15636307 C T rs146026019 CYP4F22 Nonsynonymous SNV R54C 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Uncertain significance 23.3 129023 chr19 18502861 18502861 C T rs34666550 LRRC25 Nonsynonymous SNV C285Y 0.007 0.003 0.01 3 8 1 0.008 3 1 0 0 0 23.4 129024 chr19 18724695 18724695 G A rs117674834 TMEM59L Nonsynonymous SNV G62D 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 1.849 129025 chr19 36330181 36330181 C T NPHS1 Nonsynonymous SNV G1023R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 129026 chr19 3976743 3976743 A C EEF2 Nonsynonymous SNV F796V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 129027 chr17 47583441 47583441 G A rs74892865 LOC100288866 0 0 0.014 0 0 0 0 4 0 0 0 0 4.301 129028 chr19 17108127 17108127 C T rs61744199 CPAMD8 Nonsynonymous SNV D297N 0.006 0.008 0.014 3 7 3 0.008 4 0 0 0 0 Benign 21.7 129029 chr6 24576627 24576627 G A rs554438841 KIAA0319 Nonsynonymous SNV P523L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 28.4 129030 chr19 38055894 38055894 C T rs981036076 ZNF571 Nonsynonymous SNV C479Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 129031 chr19 17306265 17306265 C T rs142693688 MYO9B Synonymous SNV A1343A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.93 129032 chr19 40903043 40903043 C T rs117336941 PRX Nonsynonymous SNV A406T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 129033 chr19 40929205 40929205 G C rs111302483 SERTAD1 Synonymous SNV P83P 0.003 0 0 0 4 0 0 0 0 0 0 0 2.409 129034 chr17 53488764 53488764 C T rs2229671 MMD Synonymous SNV P41P 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 19.6 129035 chr17 48653234 48653234 G A rs201788352 CACNA1G Nonsynonymous SNV V491I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.99 129036 chr17 48695591 48695591 G A CACNA1G Nonsynonymous SNV E1738K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 129037 chr17 48945507 48945507 T - rs56406873 TOB1-AS1 0 0 0.194 0 0 0 0 57 0 0 24 0 129038 chr17 55183317 55183317 G A rs72843434 AKAP1 Synonymous SNV V164V 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 3.802 129039 chr17 54569629 54569629 C A rs546366691 ANKFN1 Nonsynonymous SNV T713N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.4 129040 chr19 17488060 17488060 C T rs145946398 PLVAP Nonsynonymous SNV R13Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.6 129041 chr19 38993224 38993224 G C RYR1 Nonsynonymous SNV K2564N 0.003 0 0 0 4 0 0 0 0 0 0 0 19.34 129042 chr17 59560349 59560349 C G rs140385970 TBX4 Synonymous SNV P370P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign/Likely benign 10.35 129043 chr19 39019662 39019662 C A RYR1 Synonymous SNV V3697V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 129044 chr19 42489247 42489247 C T rs149898088 ATP1A3 Synonymous SNV T283T 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 17.62 129045 chr6 34985654 34985654 A G rs761915621 ANKS1A Nonsynonymous SNV T610A 0.014 0.01 0.003 1 16 4 0.003 1 0 0 0 0 4.405 129046 chr19 33639704 33639704 C T rs112724972 WDR88 Synonymous SNV I189I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 129047 chr19 44117795 44117795 C G rs201956919 SRRM5 Nonsynonymous SNV Q508E 0.003 0 0.01 7 3 0 0.018 3 0 0 0 0 0.001 129048 chr19 44130960 44130960 A G rs112876885 CADM4 Nonsynonymous SNV Y159H 0.003 0 0.01 7 3 0 0.018 3 0 0 0 0 19.84 129049 chr19 18507136 18507136 G C rs200210384 LRRC25 Nonsynonymous SNV P213R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 129050 chr17 6350913 6350913 G A rs199514811 PIMREG Nonsynonymous SNV R142Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23 129051 chr6 38029548 38029548 G A ZFAND3 Nonsynonymous SNV E98K 0.003 0.008 0 0 4 3 0 0 0 0 0 0 22.8 129052 chr17 65021046 65021046 C T rs555971941 CACNG4 Synonymous SNV I125I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 15.5 129053 chr7 82582583 82582583 G A rs775457422 PCLO Synonymous SNV S2562S 0 0 0 4 0 0 0.01 0 0 0 0 0 3.384 129054 chr19 35758211 35758219 CCTGGACGA - rs764120027 LSR D390_L392del 0.001 0 0 0 1 0 0 0 0 0 0 0 129055 chr19 2110794 2110794 G C rs200189042 AP3D1 Nonsynonymous SNV S967R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.2 129056 chr19 2115313 2115313 T C rs201042393 AP3D1 Nonsynonymous SNV K752E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 129057 chr17 67092887 67092887 C T rs151220283 ABCA6 Nonsynonymous SNV C1059Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 129058 chr19 36339603 36339603 C T NPHS1 Nonsynonymous SNV R369Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19 129059 chr19 23041039 23041039 A G rs1035958051 ZNF723 Nonsynonymous SNV K449R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 129060 chr7 130417928 130417928 G C rs3909554 KLF14 Synonymous SNV S311S 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 4.937 129061 chr19 23041099 23041099 A C rs142017118 ZNF723 Nonsynonymous SNV N469T 0.016 0.008 0 8 19 3 0.021 0 0 0 0 0 0.101 129062 chr17 7130545 7130545 A G rs61730815 DVL2 Synonymous SNV F469F 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 9.066 129063 chr17 71746227 71746227 G A rs2683164 LINC00469 0 0 0.01 0 0 0 0 3 0 0 1 0 0.652 129064 chr19 45889379 45889379 G C rs762825594 PPP1R13L Synonymous SNV L625L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.58 129065 chr17 7224519 7224519 T A rs145900596 NEURL4 Nonsynonymous SNV E1089V 0.009 0.01 0.003 2 11 4 0.005 1 0 0 0 0 22 129066 chr19 32845353 32845353 G A rs200653666 ZNF507 Synonymous SNV A539A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 8.181 129067 chr17 7290416 7290416 G A rs748824487 TNK1 Nonsynonymous SNV R452H 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.47 129068 chr17 72926387 72926387 C T rs149045280 OTOP2 Synonymous SNV N219N 0 0 0.01 0 0 0 0 3 0 0 0 0 1.196 129069 chr19 38746787 38746787 G A rs199500628 PPP1R14A Nonsynonymous SNV R65C 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 22.7 129070 chr19 44514573 44514573 G T rs144948923 ZNF230 Nonsynonymous SNV A128S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.938 129071 chr17 7330437 7330437 A G rs3892554 SPEM2 Nonsynonymous SNV Q376R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 129072 chr17 7340730 7340730 G T rs9902332 TMEM102 Nonsynonymous SNV G478W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.6 129073 chr19 35739968 35739968 C T rs557558088 LSR Nonsynonymous SNV H63Y 0.004 0 0 4 5 0 0.01 0 0 0 0 0 0.248 129074 chr17 7365466 7365466 C T rs560398226 ZBTB4 Synonymous SNV P945P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 129075 chr7 141889261 141889261 C T rs745396351 MGAM2 Synonymous SNV N1434N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 129076 chr19 3527019 3527019 C T rs138835338 FZR1 Synonymous SNV N143N 0.003 0.008 0.01 9 4 3 0.023 3 0 0 0 0 9.432 129077 chr17 73636959 73636959 G A rs201220906 SMIM5 Synonymous SNV V72V 0.005 0.016 0 0 6 6 0 0 0 1 0 0 1.798 129078 chr17 73913870 73913870 C T rs928656963 FBF1 Synonymous SNV Q816Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 129079 chr17 73919476 73919476 G C rs369138477 FBF1 Synonymous SNV P405P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.988 129080 chr17 73843954 73843954 G A rs749784833 WBP2 Nonsynonymous SNV A152V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 129081 chr17 73887089 73887089 C T rs61754864 TRIM65 Nonsynonymous SNV R420H 0.004 0.01 0.007 1 5 4 0.003 2 0 1 0 0 23.5 129082 chr6 65300145 65300145 A G rs201333192 EYS Nonsynonymous SNV I1872T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Uncertain significance 13.49 129083 chr19 49079278 49079278 T C rs16982149 SULT2B1 Nonsynonymous SNV L36S 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 Benign 0.198 129084 chr19 36212235 36212235 C T rs764916893 KMT2B Synonymous SNV Y662Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.3 129085 chr17 74382525 74382525 C T rs201193043 SPHK1 Nonsynonymous SNV P104S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 129086 chr19 45162023 45162023 T A PVR Nonsynonymous SNV S335R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.676 129087 chr17 7591997 7591997 C T rs17880282 WRAP53 Nonsynonymous SNV P11S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 17.82 129088 chr19 4523746 4523754 CCAGGTCCG - rs777399581 PLIN5 A393_L395del 0.005 0 0 1 6 0 0.003 0 0 0 0 0 129089 chr19 45322904 45322904 C T rs149302547 BCAM Nonsynonymous SNV L562F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29 129090 chr17 76164733 76164733 C A rs532163652 SYNGR2 Synonymous SNV G12G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.9 129091 chr17 76201532 76201532 G C rs760754291 AFMID Nonsynonymous SNV V193L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.612 129092 chr19 36831764 36831764 C T rs201566504 ZFP14 Nonsynonymous SNV V323I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23 129093 chr19 4217132 4217132 G T rs921681978 ANKRD24 Nonsynonymous SNV A659S 0.003 0 0 0 4 0 0 0 0 0 0 0 1.005 129094 chr17 7630564 7630564 T A rs142363026 DNAH2 Nonsynonymous SNV I118N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 129095 chr7 149515824 149515824 C T rs745044 SSPO 0.012 0.021 0.014 7 14 8 0.018 4 0 0 0 0 15.1 129096 chr7 149516839 149516839 C - rs145311298 SSPO 0.009 0.018 0.007 6 11 7 0.015 2 0 0 0 0 129097 chr19 37399350 37399350 C T rs201611021 ZNF829 Nonsynonymous SNV M36I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.2 129098 chr7 149529896 149529896 C T rs576428248 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 16.18 129099 chr17 76496953 76496953 - A rs5822248 DNAH17-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 129100 chr7 149545075 149545075 C T rs758018252 ZNF862 Stop gain R165X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 129101 chr17 7664154 7664154 T C rs73232333 DNAH2 Nonsynonymous SNV M961T 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 9.689 129102 chr17 7669731 7669731 C A rs77695334 DNAH2 Nonsynonymous SNV L1203I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 22.8 129103 chr19 3751220 3751220 G A APBA3 Synonymous SNV R541R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.557 129104 chr19 3751221 3751221 C A APBA3 Nonsynonymous SNV R541L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.3 129105 chr17 7691202 7691202 G A rs77431839 DNAH2 Nonsynonymous SNV D2210N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 17.74 129106 chr17 7691505 7691505 C T rs11871543 DNAH2 Synonymous SNV Y2281Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 8.628 129107 chr19 4683133 4683133 C T DPP9-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.8 129108 chr17 7722663 7722663 G A rs57926692 DNAH2 Nonsynonymous SNV R3651H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 129109 chr19 4694724 4694724 C T rs201879683 DPP9 Nonsynonymous SNV V489I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 5.981 129110 chr17 77987281 77987281 G T rs35564207 TBC1D16 Synonymous SNV P22P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 1.048 129111 chr19 47231185 47231185 C T rs369601263 STRN4 Synonymous SNV P373P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.46 129112 chr19 50656994 50656994 G A rs188418827 IZUMO2 Synonymous SNV T231T 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 2.489 129113 chr19 48043549 48043549 T C ZNF541 Nonsynonymous SNV S836G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.11 129114 chr19 50944179 50944179 C T rs190315215 MYBPC2 Synonymous SNV D205D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.5 129115 chr17 78328619 78328624 AAAAAA - rs544115136 RNF213-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 129116 chr17 79004781 79004781 G A rs12452029 BAIAP2-DT 0 0 0.024 0 0 0 0 7 0 0 0 0 4.41 129117 chr17 79279020 79279020 C T rs185100858 LINC00482 0 0 0.01 0 0 0 0 3 0 0 0 0 4.847 129118 chr19 39787143 39787143 A G rs114823100 IFNL1 Nonsynonymous SNV T28A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 0.002 129119 chr19 40745968 40745968 C T rs35817154 AKT2 Nonsynonymous SNV R146K 0.003 0 0 0 3 0 0 0 0 0 0 0 17.51 129120 chr8 1949418 1949418 - GAGAGC rs560567428 KBTBD11 E25_G26insSE 0.002 0 0 1 2 0 0.003 0 0 0 0 0 129121 chr19 48946093 48946093 G A rs771799381 GRIN2D Synonymous SNV P970P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.38 129122 chr19 39805188 39805188 C T rs115860908 LRFN1 Synonymous SNV L263L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.503 129123 chr19 39915650 39915650 C T rs36038883 PLEKHG2 Nonsynonymous SNV R1293W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 34 129124 chr19 39997892 39997892 G A rs199831437 DLL3 Nonsynonymous SNV R436H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign/Likely benign 26.8 129125 chr8 6266866 6266866 C A MCPH1 Nonsynonymous SNV T30K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.689 129126 chr8 6293633 6293633 A G MCPH1 Nonsynonymous SNV K129R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 129127 chr7 120382630 120382630 C T rs370190131 KCND2 Synonymous SNV L481L 0.006 0.005 0.003 5 7 2 0.013 1 0 0 0 0 Likely benign 14.43 129128 chr17 80019210 80019210 G A rs772398801 DUS1L Synonymous SNV P239P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 129129 chr19 45648220 45648220 C T rs146723120 PPP1R37 Nonsynonymous SNV L366F 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 26.4 129130 chr17 79770698 79770698 G A rs146494710 GCGR Synonymous SNV T351T 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 10.6 129131 chr19 40424269 40424269 C T rs139526126 FCGBP Nonsynonymous SNV G645E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 18.34 129132 chr17 8000073 8000073 G A rs141882639 ALOXE3 Nonsynonymous SNV R669W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 129133 chr9 140508634 140508634 G T rs755654987 ARRDC1 Nonsynonymous SNV D196Y 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 25.4 129134 chr19 46313918 46313918 C G rs141102105 RSPH6A Synonymous SNV A277A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 129135 chr19 46320218 46320218 G A rs140350780 SYMPK Synonymous SNV P1032P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.31 129136 chr7 128394730 128394730 A T rs1034673453 CALU Nonsynonymous SNV L123F 0.004 0 0 5 5 0 0.013 0 0 0 0 0 16.2 129137 chr17 80282543 80282543 G A rs545843919 SECTM1 Synonymous SNV G106G 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 2.553 129138 chr17 8193227 8193227 C T rs746275946 RANGRF, SLC25A35 Nonsynonymous SNV V269M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 129139 chr17 925742 925742 G A rs72812091 MIR3183 0 0 0.051 0 0 0 0 15 0 0 1 0 4.063 129140 chr8 11400849 11400849 C T rs142352008 BLK Nonsynonymous SNV P39L 0.008 0 0.007 4 9 0 0.01 2 0 0 0 0 Likely benign 26.8 129141 chr19 507834 507834 C T rs199849867 TPGS1 Nonsynonymous SNV H110Y 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21.9 129142 chr7 130137799 130137799 G C MEST Nonsynonymous SNV R81T 0 0 0 4 0 0 0.01 0 0 0 0 0 22.5 129143 chr19 47960478 47960478 C G rs763617613 SLC8A2 Nonsynonymous SNV R350P 0.002 0 0 0 2 0 0 0 0 0 0 0 34 129144 chr19 51205831 51205831 C T rs201453898 SHANK1 Nonsynonymous SNV R547Q 0.002 0 0 0 2 0 0 0 0 0 0 0 31 129145 chr19 4859904 4859904 C T PLIN3 Nonsynonymous SNV V67M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 129146 chr7 135376007 135376007 A G rs763143809 SLC13A4 Nonsynonymous SNV M463T 0 0 0 4 0 0 0.01 0 0 0 0 0 27.3 129147 chr19 48639373 48639373 G A rs369893004 LIG1 Synonymous SNV S379S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.21 129148 chr8 17817657 17817657 A C rs34771733 PCM1 Synonymous SNV G725G 0.009 0.008 0.01 2 11 3 0.005 3 0 0 0 0 4.523 129149 chr19 49174184 49174184 G A rs371203167 NTN5 Synonymous SNV Y20Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.829 129150 chr18 22028060 22028060 A G IMPACT Nonsynonymous SNV I224M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 129151 chr19 51628468 51628468 A T rs61744734 SIGLEC9 Synonymous SNV P79P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.021 129152 chr18 2920361 2920361 C A rs201160155 LPIN2 Nonsynonymous SNV C874F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 129153 chr19 54579588 54579603 TTCTTTCTTTCATTCA - rs749026851 TARM1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 129154 chr18 29790504 29790504 T C rs180833371 MEP1B Synonymous SNV N320N 0.006 0.016 0.017 4 7 6 0.01 5 0 0 0 0 0.072 129155 chr19 547312 547312 C T rs373840917 GZMM Nonsynonymous SNV R30W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.6 129156 chr19 52380555 52380555 G A ZNF577 Nonsynonymous SNV A88V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.052 129157 chr19 49965196 49965196 C T rs867804273 ALDH16A1 Nonsynonymous SNV A272V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 129158 chr7 148701229 148701229 C T rs146954970 PDIA4 Nonsynonymous SNV G533E 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 26.3 129159 chr19 52937334 52937334 G C rs765622218 ZNF534 Nonsynonymous SNV G48R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.527 129160 chr8 24349417 24349417 T C rs3736281 ADAM7 Nonsynonymous SNV I453T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.8 129161 chr7 149499218 149499218 G C rs762004756 SSPO 0 0 0 4 0 0 0.01 0 0 0 0 0 9.201 129162 chr19 50172334 50172334 G A rs772527764 BCL2L12 Nonsynonymous SNV G167D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 129163 chr19 46265048 46265053 TCCAGC - rs759533137 BHMG1 S464_S465del 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 129164 chr19 45260971 45260971 G T rs35211322 BCL3 Synonymous SNV L294L 0.007 0.005 0.031 6 8 2 0.015 9 0 0 0 0 Benign 8.576 129165 chr19 45261520 45261520 C T rs34401216 BCL3 Synonymous SNV N303N 0.007 0.005 0.031 6 8 2 0.015 9 0 0 0 0 15.87 129166 chr19 50951590 50951590 A G rs752223695 MYBPC2 Nonsynonymous SNV Y472C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 129167 chr19 53410473 53410473 A G rs1053298056 ZNF888 Nonsynonymous SNV Y368H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.791 129168 chr18 51813752 51813752 C G rs200852409 POLI Nonsynonymous SNV P269R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 129169 chr19 4558127 4558127 C A rs762660120 SEMA6B Synonymous SNV G52G 0.001 0.008 0 7 1 3 0.018 0 0 0 0 0 10.79 129170 chr19 51228571 51228571 - GCCCA rs559864710 CLEC11A Frameshift insertion A278Pfs*129 0.007 0.01 0.003 3 8 4 0.008 1 0 0 0 0 129171 chr7 150709453 150709453 G A rs151262456 NOS3 Nonsynonymous SNV R1000Q 0.001 0 0 7 1 0 0.018 0 0 0 0 0 22.4 129172 chr19 51509824 51509824 C T KLK9 Nonsynonymous SNV R119K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 129173 chr18 44641528 44641528 G A HDHD2 Nonsynonymous SNV P106L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 129174 chr19 48003924 48003924 G A rs138050628 NAPA Synonymous SNV D87D 0.009 0.01 0 0 11 4 0 0 0 0 0 0 6.015 129175 chr19 48248882 48248882 C T rs143725859 NOP53 Synonymous SNV F22F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.8 129176 chr19 4684863 4684863 G A DPP9-AS1 0.001 0.008 0 7 1 3 0.018 0 0 0 0 0 2.581 129177 chr8 36721994 36721994 C T rs190151094 KCNU1 Nonsynonymous SNV P655L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.78 129178 chr18 57115290 57115290 T C rs140459879 CCBE1 Nonsynonymous SNV T234A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.11 129179 chr8 37729605 37729605 C T rs139048130 RAB11FIP1 Synonymous SNV A905A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 129180 chr7 156976636 156976636 A T UBE3C Nonsynonymous SNV L352F 0.001 0 0 5 1 0 0.013 0 0 0 0 0 23.1 129181 chr8 37730526 37730526 G C rs750131376 RAB11FIP1 Synonymous SNV L598L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.174 129182 chr18 59925195 59925195 C T rs138911352 RELCH Synonymous SNV S637S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.95 129183 chr18 60242135 60242135 A G rs35643152 ZCCHC2 Nonsynonymous SNV T941A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.018 129184 chr8 41585477 41585477 C G rs367970006 ANK1 Nonsynonymous SNV E92D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.7 129185 chr19 52034004 52034004 G C SIGLEC6 Nonsynonymous SNV L177V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 129186 chr19 5694903 5694903 C G rs151025018 LONP1 Nonsynonymous SNV V479L 0.009 0.01 0.014 3 10 4 0.008 4 0 0 0 0 Benign 20.3 129187 chr19 52034685 52034685 T C rs74546168 SIGLEC6 Synonymous SNV R52R 0.009 0.008 0.003 5 11 3 0.013 1 0 0 0 0 0.108 129188 chr8 53580701 53580701 A G rs35009616 RB1CC1 Synonymous SNV I351I 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Benign 11.7 129189 chr19 49261237 49261237 C T FGF21 Synonymous SNV D130D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 13.44 129190 chr19 48947035 48947035 G C rs556975803 GRIN2D Synonymous SNV A1284A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 7.503 129191 chr6 170110372 170110372 G T rs141680830 PHF10 Nonsynonymous SNV P358H 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 21.5 129192 chr19 49573831 49573831 C T rs368469824 KCNA7 Nonsynonymous SNV R287H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 34 129193 chr8 61765395 61765395 C T rs41312170 CHD7 Synonymous SNV P2037P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign/Likely benign 2.947 129194 chr19 49686013 49686013 C G rs200246268 TRPM4 Nonsynonymous SNV S127C 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign 23 129195 chr18 6950871 6950871 - TGCAGCTGGAGCACAGCGTAGTCTGCT LAMA1 L2768_H2769insQADYAVLQL 0 0 0.003 0 0 0 0 1 0 0 0 0 129196 chr8 63978563 63978563 C T rs150710403 TTPA Nonsynonymous SNV R151Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 129197 chr18 70923148 70923148 G C rs573286528 LOC400655 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 129198 chr19 55872461 55872461 C T rs145275620 FAM71E2 Nonsynonymous SNV R222H 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 12.91 129199 chr18 72009520 72009520 C T C18orf63 Synonymous SNV Y251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 129200 chr8 8749471 8749471 C G rs145659266 MFHAS1 Synonymous SNV R366R 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 6.655 129201 chr19 49391213 49391213 G A rs147344548 TULP2 Synonymous SNV S314S 0.003 0.003 0.01 6 4 1 0.015 3 0 0 0 0 5.358 129202 chr19 5587775 5587775 C T SAFB2 Nonsynonymous SNV G881D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 129203 chr19 49965227 49965227 G T rs202209926 ALDH16A1 Synonymous SNV T282T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 1.84 129204 chr19 56002262 56002262 G A SSC5D Nonsynonymous SNV R237Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 129205 chr7 2740307 2740307 C G AMZ1 Synonymous SNV P74P 0 0.005 0 0 0 2 0 0 0 0 0 0 12.51 129206 chr19 56029502 56029519 CCTCACCCCACCACAACC - rs767425693 SSC5D T1297_T1302del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 129207 chr19 50311997 50311997 G A rs201118677 FUZ Synonymous SNV F254F 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 11.74 129208 chr18 74153712 74153712 G A rs113225589 ZNF516 Synonymous SNV Y433Y 0.003 0.003 0.024 1 3 1 0.003 7 0 0 0 0 2.448 129209 chr7 3678708 3678708 A G rs147273361 SDK1 Synonymous SNV A177A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.429 129210 chr8 10468215 10468215 G T rs748287645 RP1L1 Nonsynonymous SNV D1131E 0 0 0 4 0 0 0.01 0 0 0 0 0 11.7 129211 chr7 4119186 4119186 G C rs377121090 SDK1 Synonymous SNV T1098T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.609 129212 chr7 4201464 4201464 G A rs113979666 SDK1 Synonymous SNV T79T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 6.787 129213 chr8 81399765 81399765 G C ZBTB10 Nonsynonymous SNV K240N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 129214 chr18 77905865 77905865 C T rs72978338 PARD6G-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.857 129215 chr8 86041452 86041452 A C LRRCC1 Nonsynonymous SNV Q109H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 129216 chr18 77936214 77936214 G A rs11660391 PARD6G-AS1 0 0 0.014 0 0 0 0 4 0 0 2 0 0.38 129217 chr19 50376250 50376250 C G AKT1S1 Nonsynonymous SNV E101D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.916 129218 chr19 6262308 6262308 G T rs139530265 MLLT1 Synonymous SNV P69P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 9.551 129219 chr19 50789808 50789808 C T rs558225564 MYH14 Nonsynonymous SNV R1496W 0.003 0.003 0 6 3 1 0.015 0 0 0 0 0 35 129220 chr8 95178099 95178099 T C rs376221953 CDH17 Nonsynonymous SNV D391G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 129221 chr19 54599356 54599356 C A rs759962654 OSCAR Nonsynonymous SNV V135L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 129222 chr19 54628022 54628022 A G rs776838460 PRPF31 Nonsynonymous SNV Q281R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 129223 chr19 54632515 54632515 A G rs34154455 PRPF31 Synonymous SNV T410T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 1.537 129224 chr19 6755060 6755060 C A rs753302339 SH2D3A Nonsynonymous SNV A255S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.004 129225 chr19 54632673 54632673 A G rs35230170 PRPF31 Synonymous SNV V434V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 3.401 129226 chr8 98041698 98041698 C T rs113729124 CPQ Synonymous SNV A343A 0.014 0.01 0.003 6 17 4 0.015 1 0 0 0 1 14.68 129227 chr8 98788300 98788300 C G rs113998172 LAPTM4B Synonymous SNV V21V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 15 129228 chr19 54673347 54673347 C A rs115904006 TMC4 Synonymous SNV T121T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.81 129229 chr19 54721105 54721105 - AGCCTGCAGCGGGGG rs772509754 LILRB3 A585_A586insPPLQA 0.002 0 0 0 2 0 0 0 0 0 0 0 129230 chr19 7128963 7128963 C T INSR Nonsynonymous SNV D937N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 129231 chr19 57669823 57669823 C T DUXA Nonsynonymous SNV C104Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.46 129232 chr19 7987334 7987334 C T rs370555599 SNAPC2 Synonymous SNV S230S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.995 129233 chr19 5789421 5789421 G A rs767870547 DUS3L Nonsynonymous SNV R233C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.88 129234 chr19 52448969 52448969 T C rs141975634 ZNF613 Synonymous SNV D611D 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.006 129235 chr19 58291158 58291158 T A rs192302381 ZNF586 Stop gain Y401X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 129236 chr19 1469609 1469609 G A rs145335448 APC2 Synonymous SNV P2102P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 12.6 129237 chr19 6734232 6734232 G A rs139348331 GPR108 Nonsynonymous SNV P154L 0.003 0 0 0 4 0 0 0 0 0 0 0 14.45 129238 chr8 33318891 33318891 T C rs144327642 FUT10 Nonsynonymous SNV Q27R 0.003 0 0 6 4 0 0.015 0 0 0 0 0 25.7 129239 chr19 6734292 6734292 T C rs144129725 GPR108 Nonsynonymous SNV Q134R 0.003 0 0 0 4 0 0 0 0 0 0 0 3.666 129240 chr19 56599453 56599455 TCC - rs776063272 ZNF787 E362del 0.003 0 0 0 4 0 0 0 0 0 0 0 129241 chr8 37693279 37693279 G A rs77369926 ADGRA2 Nonsynonymous SNV A681T 0.008 0.003 0.01 15 9 1 0.038 3 0 0 0 0 Benign 22.1 129242 chr19 12059333 12059333 A G rs771777896 ZNF700 Nonsynonymous SNV K168R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 17.59 129243 chr7 45009400 45009400 G A rs141395808 MYO1G Synonymous SNV D469D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 11.91 129244 chr8 142195336 142195336 A G DENND3 Nonsynonymous SNV T1015A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.825 129245 chr10 94246978 94246978 G A rs375936259 IDE Nonsynonymous SNV A505V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.28 129246 chr7 45125306 45125306 T G rs146961641 NACAD Nonsynonymous SNV Q158P 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 23.3 129247 chr10 95400694 95400694 G T rs45522236 PDE6C Nonsynonymous SNV K585N 0.006 0.01 0.007 3 7 4 0.008 2 0 1 0 0 Conflicting interpretations of pathogenicity 25.7 129248 chr19 14067171 14067171 G A rs118005906 DCAF15 Synonymous SNV P207P 0.02 0.036 0.003 8 23 14 0.021 1 0 0 0 0 9.49 129249 chr19 15940045 15940045 C T rs73003267 UCA1 0 0 0.027 0 0 0 0 8 0 0 3 0 7.052 129250 chr19 15940075 15940075 T C rs73003269 UCA1 0 0 0.031 0 0 0 0 9 0 0 4 0 2.113 129251 chr19 57672135 57672135 C T rs202088667 DUXA Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 129252 chr19 55179112 55179112 G C rs75552485 LILRB4 Nonsynonymous SNV Q386H 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 8.491 129253 chr19 16639020 16639020 T C CHERP Synonymous SNV E392E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 129254 chr19 827854 827854 G A AZU1 Nonsynonymous SNV R3Q 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 2.42 129255 chr19 17169630 17169630 T C rs147602580 HAUS8 Synonymous SNV L158L 0.009 0.013 0.024 4 11 5 0.01 7 0 0 1 0 0.061 129256 chr8 144671511 144671511 G A rs749603594 EEF1D Synonymous SNV Y247Y 0.003 0 0 0 4 0 0 0 0 0 0 0 3.607 129257 chr19 55607264 55607264 G A rs757724527 PPP1R12C Nonsynonymous SNV P400S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.559 129258 chr19 17173563 17173563 G C rs2305755 HAUS8 Synonymous SNV T58T 0.013 0.013 0.024 3 15 5 0.008 7 0 0 1 0 0.73 129259 chr19 860766 860766 G A rs35186399 CFD Nonsynonymous SNV E76K 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 12.49 129260 chr8 144790300 144790300 A G rs567012708 LOC101928160 0.003 0 0 0 4 0 0 0 0 0 0 0 1.604 129261 chr19 15559016 15559016 C T rs201021403 WIZ Nonsynonymous SNV E35K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 34 129262 chr19 17417130 17417130 C T rs201529220 MRPL34 Nonsynonymous SNV A74V 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 17.33 129263 chr19 58863920 58863920 C T rs762287675 A1BG Synonymous SNV K114K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 129264 chr19 17439555 17439555 C A rs758170443 ANO8 Nonsynonymous SNV G548W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 129265 chr19 17516628 17516628 G A rs12609479 BISPR 0 0 0.007 0 0 0 0 2 0 0 1 0 6.287 129266 chr19 17547423 17547423 T C TMEM221 Synonymous SNV A240A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.992 129267 chr19 6387558 6387558 G T rs116536653 GTF2F1 Synonymous SNV I113I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.31 129268 chr8 145158514 145158514 G C rs200972856 SHARPIN Nonsynonymous SNV A48G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 13.31 129269 chr8 145163318 145163318 C A rs539217545 WDR97 Nonsynonymous SNV P117T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 129270 chr19 55899385 55899385 G A rs772932918 RPL28 Nonsynonymous SNV R98H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.9 129271 chr19 6754708 6754708 C T rs748258534 SH2D3A Nonsynonymous SNV R339Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 129272 chr8 145638215 145638215 G A rs144252108 SLC39A4 Synonymous SNV V83V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.89 129273 chr8 145640235 145640235 C T rs7823979 SLC39A4 Nonsynonymous SNV E259K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.1 129274 chr19 1954119 1954119 C T rs200146397 CSNK1G2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.188 129275 chr19 56369085 56369085 G A rs145740276 NLRP4 Nonsynonymous SNV R109H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.001 129276 chr8 113662508 113662508 A G rs7839690 CSMD3 Synonymous SNV D895D 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 1.746 129277 chr8 113668453 113668453 A G rs11992014 CSMD3 Synonymous SNV S848S 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 8.331 129278 chr8 146032770 146032770 A C rs376092382 ZNF517 Nonsynonymous SNV S150R 0.008 0 0.003 0 9 0 0 1 0 0 0 0 7.864 129279 chr19 57931262 57931262 G A rs78529465 ZNF17 Synonymous SNV S134S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 8.189 129280 chr19 17638144 17638144 A C rs200304763 NIBAN3 Nonsynonymous SNV S30R 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 15.54 129281 chr19 56435963 56435963 T C rs139811703 NLRP13 Synonymous SNV E150E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.005 129282 chr19 56466681 56466681 A G rs10426571 NLRP8 Synonymous SNV S419S 0.003 0 0 2 3 0 0.005 0 1 0 0 0 0.168 129283 chr9 215054 215054 G C rs754090358 DOCK8-AS1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.002 129284 chr19 56466705 56466705 C T rs10426765 NLRP8 Synonymous SNV F427F 0.003 0 0 2 3 0 0.005 0 1 0 0 0 10.07 129285 chr19 56473458 56473458 C T rs75864168 NLRP8 Nonsynonymous SNV R690C 0.003 0 0 2 3 0 0.005 0 1 0 0 0 6.642 129286 chr1 112525344 112525344 G T rs201340369 KCND3 Nonsynonymous SNV A2E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 129287 chr1 11270918 11270918 G C rs756418718 MTOR Nonsynonymous SNV R1203G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.5 129288 chr19 56718497 56718497 G A rs200501867 ZSCAN5C Nonsynonymous SNV A152T 0.001 0 0.01 3 1 0 0.008 3 0 0 1 0 3.809 129289 chr9 2719093 2719093 G T KCNV2 Nonsynonymous SNV A452S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 129290 chr19 8206844 8206844 A G rs138635091 FBN3 Nonsynonymous SNV I240T 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Likely benign 23.1 129291 chr19 58904417 58904417 C T rs11545062 RPS5 Synonymous SNV F61F 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 15.63 129292 chr19 33183115 33183115 C T rs750797858 NUDT19 Synonymous SNV H83H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.47 129293 chr19 57327342 57327342 T C rs199660634 PEG3 Nonsynonymous SNV N668S 0.005 0.003 0 8 6 1 0.021 0 0 0 0 0 0.001 129294 chr19 8670007 8670007 G A ADAMTS10 Nonsynonymous SNV R109W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 129295 chr19 9407057 9407057 C G rs370236121 ZNF699 Synonymous SNV G341G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 129296 chr19 57743128 57743135 CAGCCCAG - rs749123022 AURKC S32Hfs*8 0.001 0 0 2 1 0 0.005 0 0 0 0 0 129297 chr7 99773430 99773430 G C GPC2 Nonsynonymous SNV A138G 0 0.005 0 0 0 2 0 0 0 0 0 0 24.2 129298 chr19 6375396 6375396 G T PSPN Nonsynonymous SNV T127N 0.002 0 0 0 2 0 0 0 0 0 0 0 24 129299 chr19 19115172 19115172 C T rs529397360 SUGP2 Nonsynonymous SNV A912T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.37 129300 chr1 10363487 10363487 T C rs149241091 KIF1B Synonymous SNV A748A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.86 129301 chr9 19305442 19305442 T G rs139021247 DENND4C Synonymous SNV V468V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.341 129302 chr1 120166695 120166695 C T ZNF697 Nonsynonymous SNV E91K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.92 129303 chr19 7056590 7056590 C T rs3745555 MBD3L3 Nonsynonymous SNV G124S 0.014 0.018 0.003 4 17 7 0.01 1 1 0 0 0 3.258 129304 chr9 27948975 27948975 C T rs113646467 LINGO2 Synonymous SNV V565V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.552 129305 chr7 100550280 100550280 A C rs78890474 MUC3A Synonymous SNV S287S 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 0.003 129306 chr9 32541880 32541880 G C rs41302222 TOPORS Nonsynonymous SNV H816Q 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 9.753 129307 chr19 36530902 36530902 G A rs760105221 THAP8 Nonsynonymous SNV R74C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 129308 chr1 109815861 109815861 C T rs149569254 CELSR2 Synonymous SNV N2804N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.067 129309 chr9 34380935 34380935 G T rs773598149 C9orf24 Nonsynonymous SNV R88S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 129310 chr8 144163910 144163910 G A rs186003519 LY6L Nonsynonymous SNV E87K 0 0 0.003 3 0 0 0.008 1 0 0 0 0 3.736 129311 chr9 35563022 35563022 G A rs201884375 FAM166B Synonymous SNV A114A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 129312 chr19 2416756 2416756 G A rs147534568 TMPRSS9 Nonsynonymous SNV V622M 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 24.4 129313 chr1 110717434 110717434 C T rs764116383 SLC6A17 Nonsynonymous SNV T202I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 129314 chr19 32899174 32899174 G A rs146388434 DPY19L3 Synonymous SNV R5R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.22 129315 chr19 38993309 38993309 C G RYR1 Nonsynonymous SNV R2593G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 129316 chr1 114249324 114249324 C T rs12060836 PHTF1 Synonymous SNV Q144Q 0.003 0 0 0 4 0 0 0 0 0 0 0 13.71 129317 chr19 39055810 39055810 C T RYR1 Nonsynonymous SNV A4274V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 129318 chr19 39338057 39338057 C T HNRNPL Synonymous SNV P95P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.7 129319 chr19 39410495 39410495 G A rs752862405 SARS2 Synonymous SNV H222H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.82 129320 chr19 39689875 39689875 A G NCCRP1 Nonsynonymous SNV D173G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 129321 chr1 153924557 153924557 G A rs911199642 CRTC2 Nonsynonymous SNV H312Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 129322 chr1 154127485 154127485 G A rs749625431 NUP210L Synonymous SNV G12G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.968 129323 chr1 154427032 154427032 C T rs28730735 IL6R Nonsynonymous SNV L379F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.9 129324 chr1 116579951 116579951 A G rs138938338 SLC22A15 Synonymous SNV A371A 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 11.84 129325 chr19 8326632 8326634 CTT - rs774352431 CERS4 F305del 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 129326 chr19 40196617 40196617 T G LGALS14 Nonsynonymous SNV W24G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.484 129327 chr19 8399856 8399856 C G rs762479310 KANK3 Nonsynonymous SNV Q285H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.08 129328 chr1 117560861 117560861 G A rs762324712 CD101 Nonsynonymous SNV A566T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.508 129329 chr1 117568200 117568200 G A rs2274254 CD101 Nonsynonymous SNV R833H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.691 129330 chr1 1178854 1178854 T C rs202178204 C1QTNF12 Nonsynonymous SNV I204V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.4 129331 chr8 145107915 145107915 G A rs200620019 OPLAH Nonsynonymous SNV R997C 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 13.71 129332 chr19 36002495 36002495 C T rs750945963 DMKN Nonsynonymous SNV G246R 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 23.3 129333 chr19 9071529 9071529 G A MUC16 Nonsynonymous SNV P5306L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.59 129334 chr1 10713618 10713618 G A rs369964407 CASZ1 Synonymous SNV A832A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.038 129335 chr9 95400430 95400430 C T rs34137699 IPPK Nonsynonymous SNV V257M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 129336 chr9 96018722 96018722 C A rs200579206 WNK2 Nonsynonymous SNV P726T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.871 129337 chr19 36340009 36340009 G A rs113825926 NPHS1 Nonsynonymous SNV T294I 0.011 0.01 0.007 2 13 4 0.005 2 0 0 0 0 Benign 8.411 129338 chr19 36574003 36574003 G T WDR62 Nonsynonymous SNV Q470H 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 26 129339 chr1 110020553 110020553 C G rs372991704 SYPL2 Synonymous SNV A190A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.335 129340 chr9 100086093 100086095 GAG - CCDC180 E473del 0.001 0 0 0 1 0 0 0 0 0 0 0 129341 chr1 12378274 12378274 C T rs150598243 VPS13D Nonsynonymous SNV R2432C 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Uncertain significance 22.9 129342 chr8 145999686 145999686 T C ZNF34 Synonymous SNV V176V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.721 129343 chr19 9579809 9579809 C A rs61737643 ZNF560 Nonsynonymous SNV C89F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.21 129344 chr19 44418641 44418641 C T rs561410032 ZNF45 Nonsynonymous SNV R316H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 129345 chr19 44470061 44470061 C T rs746026661 ZNF221 Nonsynonymous SNV S136F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.11 129346 chr1 158368502 158368502 T C OR10T2 Nonsynonymous SNV Y252C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 129347 chr9 107298579 107298579 T A rs773073078 OR13C3 Synonymous SNV V172V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 129348 chr1 145115936 145115936 G A rs782783854 SEC22B2P, SEC22B3P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.34 129349 chr9 5787262 5787262 G A rs919353141 ERMP1 Nonsynonymous SNV A866V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 129350 chr9 6536189 6536189 C T GLDC Nonsynonymous SNV V905M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 129351 chr1 147084965 147084965 C T rs41295833 BCL9 Nonsynonymous SNV P113S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.32 129352 chr1 147092417 147092417 C T rs782798118 BCL9 Nonsynonymous SNV P819L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 129353 chr1 103461438 103461438 C T rs140608161 COL11A1 Synonymous SNV K658K 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.63 129354 chr9 13176360 13176360 T A rs759673011 MPDZ Nonsynonymous SNV E902D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.425 129355 chr19 3942195 3942195 C T rs138158318 NMRK2 Nonsynonymous SNV A211V 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 9.543 129356 chr1 149897906 149897906 G A rs113949235 SF3B4 Synonymous SNV P245P 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Benign 10.71 129357 chr1 1140871 1140871 G A rs142770542 TNFRSF18 Synonymous SNV G63G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.325 129358 chr1 158623144 158623144 G A rs34886778 SPTA1 Synonymous SNV H1036H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.811 129359 chr1 114185049 114185049 A G rs750619670 MAGI3 Nonsynonymous SNV N626S 0.001 0 0 0 1 0 0 0 0 0 0 0 22 129360 chr19 44832613 44832613 T C rs147418906 ZNF112 Nonsynonymous SNV Q505R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 129361 chr1 150530040 150530040 C T rs368952263 ADAMTSL4 Synonymous SNV A706A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 11.63 129362 chr1 158747315 158747315 G A rs145617711 OR6N2 Synonymous SNV F37F 0.002 0 0 0 2 0 0 0 0 0 0 0 4.373 129363 chr1 150790462 150790462 T C ARNT Nonsynonymous SNV Q465R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.13 129364 chr9 113265448 113265448 A G rs10120982 SVEP1 Synonymous SNV C451C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.582 129365 chr19 40228577 40228577 C A rs554677565 CLC 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.38 129366 chr1 151262334 151262334 C T rs754419008 ZNF687 Nonsynonymous SNV R939C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.2 129367 chr19 4511948 4511948 A G rs73920826 PLIN4 Nonsynonymous SNV V675A 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 0.018 129368 chr1 159901382 159901382 C T IGSF9 Synonymous SNV G458G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.39 129369 chr1 117663561 117663561 G T rs41296182 TRIM45 Stop gain S88X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 129370 chr1 160001524 160001524 G A rs61757715 PIGM Synonymous SNV G2G 0.009 0 0.007 1 10 0 0.003 2 0 0 0 0 Benign 9.538 129371 chr19 45296846 45296846 - C rs66944506 CBLC Frameshift insertion Q373Pfs*81 0.002 0.003 0.007 5 2 1 0.013 2 0 0 0 0 129372 chr19 45409159 45409159 C T APOE Nonsynonymous SNV P12S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.529 129373 chr1 11826898 11826898 G C C1orf167 Nonsynonymous SNV G352A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.155 129374 chr9 115932808 115932808 C T rs200106798 FKBP15 Synonymous SNV T920T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.97 129375 chr1 110734728 110734728 C T rs140501605 SLC6A17 Synonymous SNV A333A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.2 129376 chr19 45563695 45563695 G A rs147776329 CLASRP Synonymous SNV K191K 0.005 0.003 0.02 5 6 1 0.013 6 0 0 0 1 14.54 129377 chr9 115959341 115959341 C A rs200426044 FKBP15 Nonsynonymous SNV M245I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 129378 chr1 160719843 160719843 A C rs117009784 SLAMF7 Nonsynonymous SNV R96S 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 0.007 129379 chr1 160850421 160850421 G A rs201111955 ITLN1 Synonymous SNV G214G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.256 129380 chr9 33463848 33463848 C T rs115548117 NOL6 Nonsynonymous SNV R992Q 0 0 0 2 0 0 0.005 0 0 0 0 0 15.43 129381 chr19 46280645 46280645 G A rs569670872 DMPK Synonymous SNV T273T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 129382 chr19 46281770 46281770 G A DMPK Nonsynonymous SNV R99W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 129383 chr1 161042657 161042657 G A rs1537044 NECTIN4 Nonsynonymous SNV R443C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 129384 chr11 1093487 1093487 T C rs868153081 MUC2 Nonsynonymous SNV L1769P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.086 129385 chr1 161089119 161089119 G A rs151133485 NIT1 Synonymous SNV T83T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.02 129386 chr9 35091844 35091844 C G rs41274877 PIGO Synonymous SNV L680L 0.011 0.023 0.01 9 13 9 0.023 3 0 0 0 0 Conflicting interpretations of pathogenicity 1.351 129387 chr9 35674173 35674173 - GAGAGGAGGATCCACCCGGAGAGGAGGATCTACCTGGAGAGGAGGATCTACCTG CA9 D94_L95insPPGEEDLPGEEDLPGEED 0 0 0 2 0 0 0.005 0 0 0 0 0 129388 chr9 116994119 116994119 G T COL27A1 Synonymous SNV V846V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 129389 chr1 1273763 1273763 G A rs778929271 DVL1 Nonsynonymous SNV R465W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 129390 chr19 47920125 47920125 G A rs566084455 MEIS3 Nonsynonymous SNV P94L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.428 129391 chr1 113657233 113657233 T G rs41296184 LRIG2 Nonsynonymous SNV D755E 0.007 0.01 0.017 0 8 4 0 5 0 0 0 0 19.33 129392 chr1 113933778 113933778 G A rs374391420 MAGI3 Synonymous SNV E41E 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 11.17 129393 chr1 154932229 154932229 C T rs148702249 PYGO2 Nonsynonymous SNV G83R 0.001 0 0 0 1 0 0 0 0 0 0 0 27 129394 chr1 154942538 154942538 G A rs751296287 SHC1 Synonymous SNV V155V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 129395 chr1 144931218 144931218 G C rs144628175 PDE4DIP Nonsynonymous SNV P164R 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 12.87 129396 chr1 155161068 155161068 G A rs530242210 MUC1 Synonymous SNV P364P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 129397 chr1 115167966 115167966 G A rs376975763 DENND2C Nonsynonymous SNV R214C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 129398 chr1 155161069 155161069 G T rs548729751 MUC1 Nonsynonymous SNV P364H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 129399 chr1 155231455 155231455 G A SCAMP3 Nonsynonymous SNV T46I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.34 129400 chr1 155708014 155708014 G A rs779948728 DAP3 Nonsynonymous SNV R359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 129401 chr1 155874172 155874172 C T rs753425443 RIT1 Nonsynonymous SNV R84Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 129402 chr1 155903531 155903531 C G rs762245977 KHDC4 Nonsynonymous SNV A50P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 129403 chr1 155903532 155903532 T G rs765480733 KHDC4 Synonymous SNV T49T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.546 129404 chr19 49184178 49184178 C G rs8101298 SEC1P 0 0 0.02 0 0 0 0 6 0 0 1 0 5.488 129405 chr1 151020682 151020682 C G C1orf56 Nonsynonymous SNV T120S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 129406 chr1 156565386 156565386 T C rs77904383 GPATCH4 Synonymous SNV K249K 0.014 0.013 0.003 1 16 5 0.003 1 0 0 0 0 3.005 129407 chr1 151787780 151787780 C T rs746113101 RORC Synonymous SNV G119G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.257 129408 chr19 49657711 49657722 CATCATCATCAT - rs569932130 HRC D258_D261del 0 0 0.003 0 0 0 0 1 0 0 0 0 129409 chr1 12516164 12516164 C T rs768815685 VPS13D Synonymous SNV A4123A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22 129410 chr1 152732143 152732143 C G KPRP Nonsynonymous SNV Q27E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 129411 chr1 175046762 175046762 G A rs41266076 TNN Nonsynonymous SNV A70T 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 0.005 129412 chr9 130670690 130670690 G T rs755658967 ST6GALNAC4 Nonsynonymous SNV P213Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 129413 chr19 50302713 50302713 C T rs201278183 AP2A1 Synonymous SNV A365A 0.008 0.003 0.017 3 9 1 0.008 5 0 0 0 0 Benign 17.84 129414 chr1 153751341 153751341 T C rs139277937 SLC27A3 Synonymous SNV D542D 0.003 0 0 0 4 0 0 0 0 0 0 0 3.592 129415 chr19 50766628 50766628 C T rs202065396 MYH14 Nonsynonymous SNV A841V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 129416 chr19 45899662 45899662 C T PPP1R13L Nonsynonymous SNV A249T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.94 129417 chr1 155029794 155029794 A G rs762419785 ADAM15 Nonsynonymous SNV M437V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.8 129418 chr1 117663794 117663794 G A rs34781363 TRIM45 Synonymous SNV G10G 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 7.606 129419 chr1 180240953 180240953 T C rs768889373 LHX4-AS1 0.014 0.005 0 7 16 2 0.018 0 0 0 0 0 7.848 129420 chr19 46996834 46996834 A G rs190785097 PNMA8B Nonsynonymous SNV L630P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 3.946 129421 chr1 15627776 15627776 G A rs12039283 FHAD1 Nonsynonymous SNV V252I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.82 129422 chr19 52095577 52095577 A G rs7259469 LINC01530 0 0 0.007 0 0 0 0 2 0 0 1 0 0.684 129423 chr19 47588399 47588399 G A rs768199950 ZC3H4 Nonsynonymous SNV R341W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.6 129424 chr9 134398353 134398353 G C POMT1 Nonsynonymous SNV V528L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.398 129425 chr1 156628909 156628909 C A rs146836375 BCAN Nonsynonymous SNV P907T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 15.04 129426 chr1 186276762 186276762 T C rs549499549 PRG4 Synonymous SNV P503P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 129427 chr1 1396132 1396132 T G rs187832143 ATAD3C Nonsynonymous SNV F272C 0.003 0.005 0.007 6 3 2 0.015 2 0 0 0 0 24.7 129428 chr19 53100004 53100004 A C ZNF137P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.642 129429 chr1 156884486 156884486 C A rs114896181 PEAR1 Nonsynonymous SNV P1004T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 129430 chr9 136535734 136535734 G A rs368340490 SARDH Nonsynonymous SNV R823W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 129431 chr9 114090600 114090600 C T rs762444599 OR2K2 Synonymous SNV T38T 0 0.005 0 3 0 2 0.008 0 0 0 0 0 6.228 129432 chr9 138664788 138664788 G A rs559344618 KCNT1 Nonsynonymous SNV V701M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.633 129433 chr9 115950082 115950082 T C rs113219248 FKBP15 Synonymous SNV Q458Q 0 0 0 3 0 0 0.008 0 0 0 0 0 3.211 129434 chr9 116246454 116246454 C T RGS3 Stop gain Q78X 0.001 0 0 3 1 0 0.008 0 0 0 0 0 35 129435 chr9 139328533 139328533 G A INPP5E Synonymous SNV A330A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 129436 chr9 116930779 116930779 G A rs780574789 COL27A1 Nonsynonymous SNV G315E 0 0 0 3 0 0 0.008 0 0 0 0 0 0.016 129437 chr19 54598908 54598981 GGAATCCTGGGTCTGAGGGAGGAGGAGCTGGAGGACTAGACTCCTGGATCTGAGGGAGGAGGGGCTGGGTCCCA - OSCAR W260Rfs*48 0 0 0.003 0 0 0 0 1 0 0 0 0 129438 chr1 200587506 200587506 C T rs141768593 KIF14 Nonsynonymous SNV E116K 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Uncertain significance 25.1 129439 chr1 160784356 160784356 A G rs751324638 LY9 Nonsynonymous SNV R293G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 129440 chr1 161090554 161090554 A G rs886681997 NIT1 Synonymous SNV X313X 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 129441 chr1 158637690 158637690 C A SPTA1 Nonsynonymous SNV A666S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.301 129442 chr19 55614844 55614844 G A rs142523925 PPP1R12C Nonsynonymous SNV R222W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 129443 chr9 125330240 125330240 T G rs72751258 OR1L8 Nonsynonymous SNV N173H 0.016 0.013 0.007 9 19 5 0.023 2 0 0 0 0 22.3 129444 chr1 154842202 154842202 - GCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQ 0.01 0.016 0 8 12 6 0.021 0 0 0 0 0 129445 chr1 16343634 16343634 C G HSPB7 Nonsynonymous SNV D94H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 129446 chr9 140809137 140809137 G A CACNA1B Synonymous SNV K218K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 129447 chr1 15616087 15616087 C T rs200038906 FHAD1 Nonsynonymous SNV R165W 0 0 0 3 0 0 0.008 0 0 0 0 0 27.2 129448 chr19 56104640 56104640 T G FIZ1 Nonsynonymous SNV T223P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.99 129449 chr19 51842152 51842152 T C rs374146923 VSIG10L Synonymous SNV T573T 0.009 0.029 0.003 3 10 11 0.008 1 0 0 0 0 2.8 129450 chr19 56104642 56104642 T G FIZ1 Nonsynonymous SNV H222P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.31 129451 chr9 127563798 127563798 G C OLFML2A Nonsynonymous SNV V45L 0 0 0 3 0 0 0.008 0 0 0 0 0 19.38 129452 chr1 18149666 18149666 A G rs61748634 ACTL8 Nonsynonymous SNV I55V 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 21.6 129453 chr9 127619875 127619875 G A rs368166491 WDR38 Nonsynonymous SNV R256H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 3.639 129454 chr8 51363287 51363287 G C rs138262840 SNTG1 Nonsynonymous SNV V121L 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 27.1 129455 chr1 156708483 156708483 G A MRPL24 Nonsynonymous SNV A5V 0 0 0 4 0 0 0.01 0 0 0 0 0 14.26 129456 chr9 130649028 130649028 G A rs373952945 ST6GALNAC6 Nonsynonymous SNV T283M 0 0 0 2 0 0 0.005 0 0 0 0 0 17.15 129457 chr8 55533805 55533805 G T rs144293929 RP1 Synonymous SNV T93T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 1.736 129458 chr19 57795991 57795991 A C rs138122053 ZNF460 Synonymous SNV R35R 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.689 129459 chr19 57802716 57802716 G A rs370941598 ZNF460 Synonymous SNV R228R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 13.41 129460 chr9 131596044 131596044 T C KYAT1 Nonsynonymous SNV H345R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.85 129461 chr19 58862864 58862864 G A rs371831204 A1BG Nonsynonymous SNV A268V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.618 129462 chr9 133780710 133780710 C T rs201660431 FIBCD1 Nonsynonymous SNV R346H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 12.6 129463 chr1 171249957 171249957 G A rs146329612 FMO1 Synonymous SNV V224V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.85 129464 chr19 58865082 58865082 A T rs893181 A1BG-AS1 0 0 0.027 0 0 0 0 8 0 0 4 0 0.016 129465 chr19 58865091 58865091 A G rs893180 A1BG-AS1 0 0 0.02 0 0 0 0 6 0 0 3 0 2.725 129466 chr19 58879890 58879890 C T rs142072407 ZNF837 Synonymous SNV L270L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 129467 chr1 159856403 159856403 T C rs35975416 CFAP45 Nonsynonymous SNV D222G 0 0 0 4 0 0 0.01 0 0 0 0 0 Benign 12.51 129468 chr10 18828646 18828646 G A rs780134367 CACNB2 Nonsynonymous SNV R604H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 129469 chr8 90982669 90982669 T A rs147660518 NBN Synonymous SNV T273T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 6.107 129470 chr1 160851976 160851976 C T rs117373725 ITLN1 Nonsynonymous SNV R59H 0 0 0 5 0 0 0.013 0 0 0 0 0 10.67 129471 chr1 161039405 161039405 G A rs149081252 ARHGAP30 Nonsynonymous SNV R4W 0 0 0 5 0 0 0.013 0 0 0 0 0 32 129472 chr19 5918573 5918573 G A rs768319552 RANBP3 Synonymous SNV S396S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.31 129473 chr11 33090368 33090368 C T rs771757207 TCP11L1 Synonymous SNV A430A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.03 129474 chr1 197390491 197390491 C T rs142224492 CRB1 Synonymous SNV A399A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 10.23 129475 chr19 54578329 54578329 G C TARM1 Nonsynonymous SNV S36R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 129476 chr11 34477610 34477610 A G rs147298685 CAT Nonsynonymous SNV Q255R 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 22.2 129477 chr9 135919250 135919250 C T rs376483496 GTF3C5 Nonsynonymous SNV P170L 0.003 0 0 6 3 0 0.015 0 0 0 0 0 27.8 129478 chr19 7005935 7005935 G C rs73492763 FLJ25758 0 0 0.014 0 0 0 0 4 0 0 0 0 2.149 129479 chr1 17740211 17740211 C T rs144458340 RCC2 Synonymous SNV L343L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.63 129480 chr19 7174619 7174619 A G rs2229435 INSR Synonymous SNV S366S 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 7.305 129481 chr1 177937079 177937079 C T rs189562621 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R13Q 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 8.504 129482 chr1 179783264 179783264 C T rs200887602 FAM163A Synonymous SNV T148T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.422 129483 chr19 55624096 55624096 G C PPP1R12C Nonsynonymous SNV A130G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 129484 chr10 46122373 46122373 C T rs144676729 ZFAND4 Nonsynonymous SNV A300T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.832 129485 chr9 138836967 138836967 C T rs149265068 UBAC1 Synonymous SNV A261A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.67 129486 chr19 8398105 8398105 G A rs762161895 KANK3 Nonsynonymous SNV R577C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 129487 chr1 182369237 182369237 G A rs758447986 TEDDM1 Synonymous SNV H128H 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 3.114 129488 chr1 186158759 186158759 C T rs200641304 HMCN1 Nonsynonymous SNV R5553W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 129489 chr9 139370229 139370229 C T rs376950548 SEC16A Synonymous SNV P613P 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 15.27 129490 chr1 18808066 18808066 A G KLHDC7A Synonymous SNV P197P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.263 129491 chr1 228467688 228467688 G A rs368926269 OBSCN Synonymous SNV Q2521Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.625 129492 chr1 20662896 20662896 G A rs372609504 VWA5B1 Nonsynonymous SNV C620Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 129493 chr1 17322626 17322626 C A ATP13A2 Nonsynonymous SNV D458Y 0 0 0 2 0 0 0.005 0 0 0 0 0 33 129494 chr1 206858647 206858647 A G rs181345810 MAPKAPK2 Nonsynonymous SNV T25A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.347 129495 chr1 207105835 207105835 C G rs35311172 PIGR Synonymous SNV V658V 0.009 0.01 0.014 5 10 4 0.013 4 1 0 0 1 4.68 129496 chr1 192548397 192548397 A G rs199992748 RGS1 Nonsynonymous SNV K192R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 129497 chr1 196311253 196311253 A G rs145756671 KCNT2 Synonymous SNV Y503Y 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 1.849 129498 chr9 140079477 140079477 G A rs140326719 ANAPC2 Synonymous SNV P312P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.851 129499 chr1 197070761 197070761 T C rs147160053 ASPM Synonymous SNV A2540A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.744 129500 chr9 140352210 140352210 C T rs753078916 NSMF Nonsynonymous SNV A93T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 129501 chr1 209963977 209963977 C T rs145479239 IRF6 Nonsynonymous SNV G213D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.6 129502 chr1 19582545 19582545 G A rs138723852 MRTO4 Nonsynonymous SNV R64Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 129503 chr19 57723271 57723271 A G rs143071364 ZNF264 Nonsynonymous SNV N269S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.095 129504 chr1 201012453 201012453 G C rs140268231 CACNA1S Synonymous SNV V1668V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.985 129505 chr1 2338250 2338250 C G rs139345520 PEX10 Nonsynonymous SNV V229L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 7.224 129506 chr1 201177732 201177732 G A IGFN1 Synonymous SNV R1237R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.137 129507 chr10 3146101 3146101 C T rs371270142 PFKP Synonymous SNV I168I 0 0 0 2 0 0 0.005 0 0 0 0 0 10.79 129508 chr1 213224817 213224817 C T rs368815923 RPS6KC1 Nonsynonymous SNV P24L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 129509 chr1 214820451 214820451 G A CENPF Nonsynonymous SNV G2513D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.5 129510 chr10 72300975 72300975 G A PALD1 Nonsynonymous SNV V676I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 129511 chr10 5931223 5931223 C G rs773643759 ANKRD16 Nonsynonymous SNV C32S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.734 129512 chr1 236925863 236925863 G T rs754834889 ACTN2 Nonsynonymous SNV G877C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.7 129513 chr1 10699149 10699150 GT - rs796610801 CASZ1 D1710Gfs*116 0 0 0.003 0 0 0 0 1 0 0 0 0 129514 chr1 10699152 10699170 GTCCTCGTCGTCGTCCTCG - rs775044368 CASZ1 D1703Efs*134 0 0 0.003 0 0 0 0 1 0 0 0 0 129515 chr10 7844267 7844267 C T rs145464092 ATP5F1C Synonymous SNV D177D 0.001 0.003 0 6 1 1 0.015 0 0 0 0 1 14.32 129516 chr10 74879875 74879875 T A rs147262032 NUDT13 Synonymous SNV T61T 0.007 0 0.01 3 8 0 0.008 3 0 0 0 0 12.97 129517 chr19 621148 621148 C T rs143192895 POLRMT Synonymous SNV G850G 0.007 0.005 0 5 8 2 0.013 0 0 0 0 0 Benign 9.687 129518 chr19 622232 622232 G A rs369539699 POLRMT Nonsynonymous SNV P590S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 129519 chr19 623529 623529 G A rs765600381 POLRMT Synonymous SNV H405H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.664 129520 chr1 205238081 205238081 G A rs566610031 TMCC2 Nonsynonymous SNV D26N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.14 129521 chr1 225492678 225492678 A G rs1022874889 DNAH14 Synonymous SNV K2964K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.021 129522 chr1 19480306 19480306 T C rs760014767 UBR4 Nonsynonymous SNV T2196A 0 0 0 4 0 0 0.01 0 0 0 0 0 13.93 129523 chr1 225555734 225555734 G T DNAH14 Synonymous SNV G4106G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.78 129524 chr10 18828486 18828486 C G rs61733968 CACNB2 Nonsynonymous SNV R551G 0.003 0 0.003 5 3 0 0.013 1 0 0 0 0 Benign 24.4 129525 chr1 247587870 247587870 G A rs138613962 NLRP3 Synonymous SNV E375E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.113 129526 chr10 88418362 88418362 G A rs144200344 OPN4 Synonymous SNV A182A 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 7.156 129527 chr1 209788687 209788687 G A rs2228342 LAMB3 Synonymous SNV L1150L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 12.44 129528 chr1 24775999 24775999 C T rs141412773 NIPAL3 Synonymous SNV C140C 0.002 0 0 0 2 0 0 0 0 0 0 0 18.21 129529 chr1 113256126 113256126 C T rs370011084 PPM1J Nonsynonymous SNV R145Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.615 129530 chr1 209933659 209933659 G A rs78296889 TRAF3IP3 Nonsynonymous SNV R92Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.252 129531 chr1 198685816 198685816 G A rs140403368 PTPRC Nonsynonymous SNV D272N 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Uncertain significance 0.14 129532 chr19 8138147 8138147 G A rs767651414 FBN3 Synonymous SNV C2579C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 6.051 129533 chr1 208252681 208252681 T C rs41309627 PLXNA2 Nonsynonymous SNV H837R 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 Benign 19.55 129534 chr11 57479441 57479441 G A MED19 Synonymous SNV L88L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.89 129535 chr1 228456398 228456398 G A rs368761334 OBSCN Nonsynonymous SNV V1677M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.75 129536 chr1 213341218 213341218 - G RPS6KC1 Frameshift insertion R274Sfs*20 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 129537 chr19 8932757 8932757 G A rs750616130 ZNF558 Synonymous SNV S14S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.815 129538 chr1 220325008 220325008 T C rs150226729 RAB3GAP2 Synonymous SNV K1322K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.136 129539 chr9 18777170 18777170 T C rs777081174 ADAMTSL1 Synonymous SNV L981L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 129540 chr1 228612920 228612920 A G rs372584075 H3-4 Nonsynonymous SNV V36A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.121 129541 chr1 120468169 120468169 T C rs760325217 NOTCH2 Nonsynonymous SNV T1424A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.74 129542 chr1 12378275 12378275 G A rs779718055 VPS13D Nonsynonymous SNV R2432H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.98 129543 chr1 222721160 222721160 C T rs61740543 HHIPL2 Nonsynonymous SNV R76H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.51 129544 chr1 229772097 229772097 C T rs754675516 URB2 Synonymous SNV L579L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.569 129545 chr1 223396637 223396637 C T rs762315284 SUSD4 Synonymous SNV T466T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 129546 chr1 145039769 145039769 C T LOC100996724 0 0 0.007 0 0 0 0 2 0 0 0 0 9.979 129547 chr1 27432505 27432505 G A rs35607809 SLC9A1 Synonymous SNV I452I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 14.72 129548 chr1 22213993 22213993 C T rs139873789 HSPG2 Nonsynonymous SNV R293H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 14.82 129549 chr1 235323959 235323959 T C rs199976960 RBM34 Nonsynonymous SNV T78A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.19 129550 chr1 206782748 206782748 C T EIF2D Synonymous SNV E104E 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 13.61 129551 chr1 150236268 150236268 G C CA14 Nonsynonymous SNV R313T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 129552 chr1 207133838 207133838 G A rs567428942 FCAMR Synonymous SNV P461P 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 1.653 129553 chr1 150528754 150528754 C G ADAMTSL4 Synonymous SNV G496G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 129554 chr10 48390035 48390035 G A rs35186791 RBP3 Synonymous SNV P281P 0.004 0 0 6 5 0 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.16 129555 chr1 227152814 227152814 C T rs111529228 COQ8A Synonymous SNV S97S 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.7 129556 chr10 105187113 105187113 C T rs144287622 PDCD11 Synonymous SNV F1111F 0.002 0 0 0 2 0 0 0 0 0 0 0 18.11 129557 chr19 9066965 9066965 A G rs191423546 MUC16 Synonymous SNV T6827T 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.163 129558 chr1 32090716 32090716 A G rs181149943 HCRTR1 Nonsynonymous SNV S362G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 129559 chr1 22456326 22456326 C T rs144407094 WNT4 Synonymous SNV S32S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 15.35 129560 chr1 241767755 241767755 G A rs12072790 OPN3 Nonsynonymous SNV A167V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 129561 chr1 32671502 32671502 C T IQCC Nonsynonymous SNV P74S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.8 129562 chr1 32696776 32696776 C T rs115858570 EIF3I Synonymous SNV F319F 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 13.38 129563 chr1 3347565 3347565 G A rs762994553 PRDM16 Synonymous SNV S1138S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.56 129564 chr1 33613028 33613028 T C TRIM62 Nonsynonymous SNV D272G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 129565 chr19 9084401 9084401 C T rs142278154 MUC16 Nonsynonymous SNV V2472I 0.006 0.005 0.014 0 7 2 0 4 0 0 0 0 0.686 129566 chr19 9085414 9085414 G A rs183496438 MUC16 Nonsynonymous SNV T2134I 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.162 129567 chr1 228468078 228468078 G T rs369552392 OBSCN Nonsynonymous SNV R2621L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.014 129568 chr1 228470847 228470847 C T rs201224119 OBSCN Nonsynonymous SNV R2867C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27 129569 chr10 50958895 50958895 T A rs150231967 OGDHL Nonsynonymous SNV M87L 0.005 0 0 8 6 0 0.021 0 0 0 0 0 Likely benign 29 129570 chr10 54011333 54011333 T C rs141218982 PRKG1 Synonymous SNV Y345Y 0.005 0 0 8 6 0 0.021 0 0 0 0 0 Benign 0.075 129571 chr1 35563096 35563096 A G rs140465722 ZMYM1 Synonymous SNV P41P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.143 129572 chr1 35580837 35580837 A G rs200770792 ZMYM1 Nonsynonymous SNV I1061V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.47 129573 chr11 64421175 64421175 G A rs148996754 NRXN2 Synonymous SNV C803C 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 11.83 129574 chr1 228612793 228612793 G C rs758405073 HIST3H3 Nonsynonymous SNV D78E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.1 129575 chr10 115804206 115804206 G T rs7921133 ADRB1 Synonymous SNV L105L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 5.413 129576 chr1 37307518 37307518 C T rs115314874 GRIK3 Nonsynonymous SNV R450Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 129577 chr10 116046147 116046147 G A rs74943198 VWA2 Nonsynonymous SNV V483M 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign 4.015 129578 chr10 116056829 116056829 C A rs889313487 AFAP1L2 Nonsynonymous SNV D697Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 129579 chr1 22928138 22928138 C T rs150964144 EPHA8 Synonymous SNV G974G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 8.263 129580 chr10 116056991 116056991 A G rs17091542 AFAP1L2 Synonymous SNV N682N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.28 129581 chr10 116060266 116060266 A G rs62641718 AFAP1L2 Nonsynonymous SNV S576P 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 2.676 129582 chr1 15495049 15495049 G A rs769809036 C1orf195 Nonsynonymous SNV A108V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 129583 chr1 38288040 38288040 G A rs759819739 MTF1 Nonsynonymous SNV A507V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 129584 chr1 155019743 155019743 G A DCST1 Nonsynonymous SNV A498T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 129585 chr1 38446282 38446282 C A rs918764397 SF3A3 Nonsynonymous SNV E169D 0.003 0 0 0 3 0 0 0 0 0 0 0 9.166 129586 chr11 64950393 64950393 G A rs201318945 CAPN1 Nonsynonymous SNV G74D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 27.1 129587 chr1 155287588 155287588 C T rs1409140 RUSC1-AS1 0 0 0.041 0 0 0 0 12 0 0 6 0 2.055 129588 chr1 155291253 155291253 C T rs72704152 RUSC1-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 16.6 129589 chr11 65307960 65307960 C A LTBP3 Nonsynonymous SNV V1035L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.4 129590 chr1 156144893 156144893 G C rs148744804 SEMA4A Nonsynonymous SNV G352A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 23.7 129591 chr9 95237030 95237030 - TCATCA ASPN D50_E51insDD 0 0.005 0 3 0 2 0.008 0 0 0 0 0 129592 chr9 95618118 95618118 A C ZNF484 Synonymous SNV G34G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 129593 chr1 156507081 156507081 G T rs374998272 IQGAP3 Nonsynonymous SNV A1105D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 129594 chr1 156552082 156552082 G A rs375039699 TTC24 Nonsynonymous SNV V256M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 129595 chr1 158225074 158225074 T C CD1A Nonsynonymous SNV F76L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.522 129596 chr10 127412472 127412472 A G rs61738566 EDRF1 Synonymous SNV L159L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.503 129597 chr1 235377279 235377281 TCC - rs10588817 ARID4B E553del 0.01 0.005 0.007 0 12 2 0 2 0 0 0 0 129598 chr1 23759654 23759654 C T rs199574094 ASAP3 Nonsynonymous SNV E738K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 129599 chr11 67817722 67817722 G A TCIRG1 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Pathogenic 25.2 129600 chr10 129901975 129901975 G A rs540401023 MKI67 Nonsynonymous SNV P2350L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.737 129601 chr1 114133195 114133195 T C rs149597924 MAGI3 Nonsynonymous SNV Y285H 0.004 0.016 0.007 1 5 6 0.003 2 0 0 0 0 23.2 129602 chr1 159912847 159912847 G T rs143442822 IGSF9 Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.964 129603 chr1 160252819 160252819 G A rs146644725 PEX19 Synonymous SNV F87F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.17 129604 chr1 228465349 228465349 G A rs779461612 OBSCN Nonsynonymous SNV V2675M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 129605 chr10 88421051 88421051 C T rs148803205 OPN4 Synonymous SNV L327L 0 0 0 3 0 0 0.008 0 0 0 0 0 12.92 129606 chr1 11826857 11826857 C G rs915908178 C1orf167 Synonymous SNV S338S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.389 129607 chr1 55066994 55066994 C T rs188119031 ACOT11 Nonsynonymous SNV R313W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 129608 chr1 55075099 55075099 G C rs41297135 FAM151A Nonsynonymous SNV R534G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 18.12 129609 chr11 76371109 76371109 G T rs746759803 LRRC32 Nonsynonymous SNV L400M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.7 129610 chr10 135371369 135371369 T C rs141668584 SYCE1 Nonsynonymous SNV R125G 0.003 0 0 0 4 0 0 0 0 0 0 0 27.9 129611 chr11 247378 247378 C T rs142720939 PSMD13 Synonymous SNV I168I 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 16.08 129612 chr1 245851589 245851589 C A rs202102649 KIF26B Synonymous SNV G1768G 0.013 0.013 0.007 2 15 5 0.005 2 0 0 0 0 Benign 4.513 129613 chr1 169762180 169762180 G A rs144732881 METTL18 Synonymous SNV N219N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.791 129614 chr1 32671300 32671300 G A IQCC Synonymous SNV L6L 0.009 0.003 0 0 10 1 0 0 0 0 0 0 8.032 129615 chr11 403149 403149 - AGCCCCCAGATCGTGGGGCTGTAC PKP3 Y611_N612insSPQIVGLY 0.001 0 0 0 1 0 0 0 0 0 0 0 129616 chr1 2343936 2343936 G C rs112471479 PEX10 Synonymous SNV A2A 0.005 0.008 0.01 5 6 3 0.013 3 0 0 0 0 Benign/Likely benign 2.251 129617 chr11 82571161 82571161 T C PRCP 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24.3 129618 chr1 171107688 171107688 T C rs115870779 FMO6P 0 0 0.027 0 0 0 0 8 0 0 0 0 5.562 129619 chr1 171107737 171107737 G T rs140445002 FMO6P 0 0 0.031 0 0 0 0 9 0 0 0 0 1.945 129620 chr1 171121206 171121206 A T rs61997161 FMO6P 0 0 0.034 0 0 0 0 10 0 0 0 0 26.5 129621 chr1 33558904 33558904 C T rs780160914 AZIN2 Synonymous SNV T63T 0.009 0.003 0 0 11 1 0 0 0 0 0 0 14.53 129622 chr11 563400 563400 C T rs34822421 RASSF7 Nonsynonymous SNV P319L 0.007 0 0.014 0 8 0 0 4 0 0 0 0 Benign 7.694 129623 chr1 247887002 247887002 G A rs11204577 OR14A2 Nonsynonymous SNV A115V 0.005 0 0.01 6 6 0 0.015 3 0 0 0 0 8.128 129624 chr1 150999764 150999764 C T rs374433339 PRUNE1 Synonymous SNV G44G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 20.5 129625 chr1 37947235 37947235 A T rs201388317 ZC3H12A Nonsynonymous SNV K206M 0.002 0 0 0 2 0 0 0 0 0 0 0 28 129626 chr1 151534573 151534573 G A rs147244422 TUFT1 Nonsynonymous SNV V23M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24.4 129627 chr1 38512086 38512086 - CCG POU3F1 G111_F112insG 0.002 0 0 0 2 0 0 0 0 0 0 0 129628 chr1 27268043 27268043 G A rs764354580 NUDC Synonymous SNV A85A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.745 129629 chr9 132482970 132482970 G A PRRX2 Synonymous SNV E181E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.67 129630 chr1 74808631 74808631 C T rs34521608 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV P263L 0.012 0.01 0.01 0 14 4 0 3 0 0 0 0 Benign 25.5 129631 chr1 181701986 181701986 C T rs767745136 CACNA1E Nonsynonymous SNV R903W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 129632 chr1 25944300 25944300 G A rs932125450 MAN1C1 Synonymous SNV R4R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.33 129633 chr1 26650711 26650711 C G rs144282899 CRYBG2 Nonsynonymous SNV V1557L 0.007 0 0 2 8 0 0.005 0 0 0 0 0 22.8 129634 chr1 43854091 43854091 C G rs140809090 MED8 Nonsynonymous SNV E5D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 129635 chr1 184777267 184777267 G A rs201877926 NIBAN1 Nonsynonymous SNV R426C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 129636 chr1 185703973 185703973 C T rs768644658 HMCN1 Nonsynonymous SNV A21V 0 0 0.003 0 0 0 0 1 0 0 0 0 30 129637 chr1 33235594 33235594 C T rs772246869 KIAA1522 Nonsynonymous SNV R213W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.8 129638 chr1 27943765 27943765 C G rs754615461 FGR Nonsynonymous SNV Q157H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.9 129639 chr1 19166761 19166761 C T TAS1R2 Nonsynonymous SNV V618I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 129640 chr1 46532657 46532657 G T rs368006440 LOC110117498-PIK3R3, PIK3R3 Nonsynonymous SNV H60N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.4 129641 chr1 46768963 46768963 C - LRRC41 S11Ifs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 129642 chr1 34554603 34554603 G C rs117890305 CSMD2 Nonsynonymous SNV P127A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.83 129643 chr1 156533450 156533450 G A IQGAP3 Nonsynonymous SNV L172F 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 26.8 129644 chr1 3551572 3551572 C T rs753999408 WRAP73 Nonsynonymous SNV D269N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.014 129645 chr10 118320012 118320012 A G rs377432333 PNLIP Nonsynonymous SNV N382S 0 0 0.003 4 0 0 0.01 1 0 0 0 0 18.75 129646 chr1 33772797 33772797 A G rs373440853 A3GALT2 Nonsynonymous SNV M198T 0.003 0 0 0 4 0 0 0 0 0 0 0 16.44 129647 chr1 19923269 19923269 C T rs763790532 LOC105378614 0 0 0.003 0 0 0 0 1 0 0 0 0 7.096 129648 chr1 52840559 52840559 C T rs61753389 ORC1 Nonsynonymous SNV V772I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign/Likely benign 7.478 129649 chr11 1093619 1093619 T C rs779724683 MUC2 Nonsynonymous SNV M1813T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 129650 chr11 1093631 1093631 G C rs56282171 MUC2 Nonsynonymous SNV S1817T 0.013 0.013 0.007 2 15 5 0.005 2 0 0 0 0 0.029 129651 chr1 38079869 38079869 C T RSPO1 Synonymous SNV E141E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 129652 chr1 54344366 54344366 G A rs184195991 YIPF1 Synonymous SNV P75P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 129653 chr1 35334434 35334434 C T rs373832741 DLGAP3 Nonsynonymous SNV D753N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.3 129654 chr1 54666074 54666074 C T rs139501829 MRPL37 Nonsynonymous SNV P53L 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 32 129655 chr1 201750162 201750162 G A rs202107593 NAV1 Nonsynonymous SNV R72H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 129656 chr1 55253386 55253386 C T rs143886863 TTC22 Nonsynonymous SNV R246Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.468 129657 chr11 1276432 1276432 G T rs55893724 MUC5B Nonsynonymous SNV V5276L 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 Benign/Likely benign 0.078 129658 chr11 1481925 1481925 C T rs575648032 BRSK2 Nonsynonymous SNV P728L 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 19.99 129659 chr1 57258281 57258281 T C FYB2 Nonsynonymous SNV S69G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 129660 chr1 202729678 202729678 T C rs149504096 KDM5B Synonymous SNV L269L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.473 129661 chr1 92646827 92646827 A G KIAA1107 Nonsynonymous SNV D683G 0.006 0 0 0 7 0 0 0 0 0 0 0 0.012 129662 chr1 43042900 43042900 G T rs756176570 CCDC30 Nonsynonymous SNV K355N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 129663 chr1 43218003 43218003 G A P3H1 Nonsynonymous SNV T504I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 129664 chr1 93309101 93309101 G A rs759090757 DIPK1A Nonsynonymous SNV R331C 0.006 0 0 0 7 0 0 0 0 0 0 0 23.1 129665 chr1 32669495 32669495 G A CCDC28B Synonymous SNV K60K 0 0 0 3 0 0 0.008 0 0 0 0 0 10.74 129666 chr1 45224937 45224937 G A rs139373762 KIF2C Synonymous SNV Q387Q 0.001 0 0 4 1 0 0.01 0 0 0 0 0 17.96 129667 chr1 45226000 45226000 G A rs147115263 KIF2C Synonymous SNV A431A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.296 129668 chr1 46033711 46033711 C T rs61758860 AKR1A1 Synonymous SNV T138T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 13.02 129669 chr11 4703607 4703607 G C rs140431076 OR51E2 Nonsynonymous SNV T112S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.3 129670 chr1 46086436 46086436 T C rs2297654 CCDC17 Nonsynonymous SNV I557V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 129671 chr1 16245982 16245982 A C rs61756185 SPEN Synonymous SNV R535R 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 3.33 129672 chr1 46088960 46088960 A G rs781420047 CCDC17 Nonsynonymous SNV L141P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 129673 chr1 43621956 43621956 G A rs149435229 FAM183A Stop gain W126X 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 37 129674 chr1 16261019 16261019 A C rs145011469 SPEN Nonsynonymous SNV M2762L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.007 129675 chr1 46160173 46160173 C T rs151042816 IPP Nonsynonymous SNV E556K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.491 129676 chr1 207504461 207504461 T C CD55 Nonsynonymous SNV C225R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 23.5 129677 chr10 134743258 134743258 A G rs200617711 CFAP46 Nonsynonymous SNV M306T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.001 129678 chr1 16264330 16264330 C T rs199632433 SPEN Synonymous SNV G3511G 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 15.38 129679 chr9 140331113 140331113 C T rs199706959 ENTPD8 Nonsynonymous SNV V216M 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.476 129680 chr1 46496942 46496942 G A rs56114653 MAST2 Nonsynonymous SNV R991Q 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.071 129681 chr1 207975436 207975436 G A rs116561624 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 6.047 129682 chr11 5153287 5153287 G A rs756047494 OR52A5 Stop gain R196X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 129683 chr1 47882885 47882885 A G rs552420470 FOXE3 Nonsynonymous SNV S300G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign/Likely benign 0.011 129684 chr10 135209255 135209255 T G rs141260910 MTG1 Nonsynonymous SNV C51G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.5 129685 chr1 45671567 45671567 G A ZSWIM5 Synonymous SNV A152A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.223 129686 chr1 169439226 169439226 C T rs148047353 SLC19A2 Nonsynonymous SNV V135M 0.004 0.005 0 0 5 2 0 0 0 0 0 0 34 129687 chr11 280665 280665 C A rs761365031 NLRP6 Nonsynonymous SNV L311M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 25.5 129688 chr1 39896493 39896493 C T rs747896800 MACF1 Synonymous SNV S3688S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 15.84 129689 chr20 16729515 16729515 C T rs1054533479 OTOR Nonsynonymous SNV T40I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 129690 chr1 76397798 76397798 A G ASB17 Nonsynonymous SNV L60S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 129691 chr1 40431558 40431558 C T MFSD2A Synonymous SNV L40L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 13.43 129692 chr1 54511321 54511323 TGC - rs375264930 TMEM59 W144_H145delinsC 0.005 0 0 1 6 0 0.003 0 0 0 0 0 129693 chr1 40705254 40705254 A G rs768826089 RLF Nonsynonymous SNV H1627R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 129694 chr1 40717144 40717144 C G rs80094747 TMCO2 Nonsynonymous SNV L143V 0.003 0.018 0.003 4 3 7 0.01 1 0 0 0 0 23.8 129695 chr11 5602773 5602773 C G rs61892481 OR52B6 Nonsynonymous SNV L223V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 129696 chr1 22186135 22186135 C T rs146482954 HSPG2 Synonymous SNV S1740S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.84 129697 chr1 51787790 51787790 C G rs374205666 TTC39A Nonsynonymous SNV G15A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.64 129698 chr1 84946682 84946682 C T rs567123760 RPF1 Nonsynonymous SNV A91V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 129699 chr11 824556 824556 G A rs760560356 PNPLA2 Synonymous SNV Q403Q 0 0 0 3 0 0 0.008 0 0 0 0 0 1.319 129700 chr11 6008020 6008020 C T OR52L1 Synonymous SNV L47L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.744 129701 chr11 6501576 6501576 G A rs765424213 ARFIP2 Nonsynonymous SNV P26S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 129702 chr20 23345911 23345931 GGAGGAGGAAGAGGAGGAGGA - rs547594353 GZF1 E300_E306del 0.002 0 0 0 2 0 0 0 0 0 0 0 129703 chr1 45242241 45242241 C G rs377221663 SNORD46 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 15.66 129704 chr1 45274514 45274514 G A rs201549322 BTBD19 Nonsynonymous SNV V8M 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 11.39 129705 chr1 45274571 45274571 C A rs193204757 BTBD19 Synonymous SNV R27R 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 13.33 129706 chr1 45294262 45294262 G A rs11573582 PTCH2 Synonymous SNV V502V 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Benign 5.705 129707 chr20 24950835 24950835 C T rs61732133 APMAP Synonymous SNV G237G 0.003 0 0 0 3 0 0 0 0 0 0 0 14.02 129708 chr20 24964547 24964547 C T rs35485563 APMAP Synonymous SNV Q68Q 0.003 0 0 0 3 0 0 0 0 0 0 0 13.22 129709 chr1 55680540 55680540 - GCC rs540467668 USP24 G82_P83insG 0.012 0.021 0.014 8 14 8 0.021 4 0 1 0 0 129710 chr1 46089055 46089055 G A rs759314054 CCDC17 Synonymous SNV P109P 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 1.437 129711 chr20 25657465 25657465 C A rs369015763 ZNF337 Nonsynonymous SNV E153D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.78 129712 chr1 6635022 6635022 G A rs147087066 TAS1R1 Nonsynonymous SNV R277Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 129713 chr10 24813493 24813493 T C rs147898647 KIAA1217 Nonsynonymous SNV S583P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 129714 chr10 24813652 24813652 A G KIAA1217 Nonsynonymous SNV I636V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.647 129715 chr1 50884749 50884749 A T rs184374125 DMRTA2 Nonsynonymous SNV L406Q 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 21.1 129716 chr20 31571747 31571747 C T rs145464981 SUN5 Synonymous SNV P331P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 129717 chr11 7847287 7847287 G A OR5P3 Nonsynonymous SNV T78I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 129718 chr1 92646671 92646671 A G rs191551019 KIAA1107 Nonsynonymous SNV D631G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 129719 chr1 54605251 54605251 A G rs146464941 CDCP2 Nonsynonymous SNV L431P 0.009 0.003 0.003 5 11 1 0.013 1 0 0 0 0 10.33 129720 chr20 32247776 32247776 C G rs201576067 NECAB3 Nonsynonymous SNV R186S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.6 129721 chr1 23418182 23418182 G A rs767898208 LUZP1 Nonsynonymous SNV A858V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 129722 chr1 6529116 6529116 G A PLEKHG5 Synonymous SNV P745P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.426 129723 chr20 35176475 35176475 C T rs368093790 MYL9 Synonymous SNV S75S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 17.71 129724 chr1 234601456 234601456 - A rs531256921 TARBP1 0.004 0.01 0.024 2 5 4 0.005 7 0 0 0 0 129725 chr1 235993709 235993709 G A rs33998267 LYST Synonymous SNV T3T 0.018 0.008 0.02 0 21 3 0 6 0 0 0 0 Conflicting interpretations of pathogenicity 12.31 129726 chr1 97915614 97915614 C T rs3918290 DPYD 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 drug response 23.7 129727 chr20 36997785 36997785 G A rs150948020 LBP Synonymous SNV E376E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.945 129728 chr20 37555108 37555108 T G FAM83D Nonsynonymous SNV L8R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 129729 chr10 45423427 45423427 C T TMEM72 Synonymous SNV F43F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.56 129730 chr1 70257779 70257779 T C rs34658389 LRRC7 Synonymous SNV L120L 0.008 0.013 0.014 4 9 5 0.01 4 1 1 0 0 3.058 129731 chr1 74575212 74575212 - T rs761276681 LRRIQ3 Frameshift insertion Q245Tfs*7 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 129732 chr1 85736442 85736442 A G rs745539994 BCL10 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.375 129733 chr11 10876460 10876460 A G ZBED5 Synonymous SNV Y11Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 129734 chr20 39832454 39832454 A G rs754947483 ZHX3 Nonsynonymous SNV I368T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 129735 chr1 86889984 86889984 C T rs41311184 CLCA2 Synonymous SNV L18L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.72 129736 chr20 42887117 42887117 C T rs138641591 GDAP1L1 Synonymous SNV H158H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.357 129737 chr20 42891917 42891917 G A rs111998272 GDAP1L1 Nonsynonymous SNV E141K 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 24 129738 chr1 24483687 24483687 C G IFNLR1 Nonsynonymous SNV W499S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.691 129739 chr1 200843127 200843127 G C rs140797590 GPR25 Nonsynonymous SNV G321A 0.004 0.008 0 0 5 3 0 0 1 0 0 0 0.001 129740 chr20 17602158 17602158 G A rs147682968 RRBP1 Nonsynonymous SNV T1120M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 129741 chr1 24674001 24674001 G C rs754817104 GRHL3 Synonymous SNV A483A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.146 129742 chr1 24696293 24696293 G A rs200979044 STPG1 Nonsynonymous SNV S156L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 129743 chr1 85634787 85634787 A G rs749640333 SYDE2 Synonymous SNV N931N 0.005 0.005 0 0 6 2 0 0 0 0 0 0 8.129 129744 chr20 44841751 44841751 G A rs150940098 CDH22 Synonymous SNV D305D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 129745 chr11 18421002 18421002 G A rs758645316 LDHA Nonsynonymous SNV V51I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 129746 chr20 46311901 46311901 G A rs114645538 SULF2 Synonymous SNV L301L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 11.24 129747 chr20 48127605 48127605 G A PTGIS Nonsynonymous SNV H440Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.048 129748 chr1 8926605 8926605 C G rs145794095 MIR6728 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 5.203 129749 chr20 48524803 48524803 G A rs373260117 SPATA2 Synonymous SNV R75R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.953 129750 chr11 19970429 19970429 T C rs368108151 NAV2 Synonymous SNV T752T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.873 129751 chr1 897828 897828 G A rs777583850 KLHL17 Nonsynonymous SNV A269T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.662 129752 chr1 93301890 93301890 C T rs913836289 RPL5 Synonymous SNV G156G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 129753 chr20 23016262 23016262 G A rs971791472 SSTR4 Nonsynonymous SNV V48I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.859 129754 chr10 70143816 70143816 G T rs188682778 RUFY2 Nonsynonymous SNV H238N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.1 129755 chr1 94463617 94463617 C T rs1800555 ABCA4 Nonsynonymous SNV D2177N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.1 129756 chr20 51873044 51873044 C T rs200356396 TSHZ2 Nonsynonymous SNV T1013M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 129757 chr11 4791053 4791053 G C rs148685376 OR51F1 Nonsynonymous SNV P39R 0.003 0.01 0.003 6 4 4 0.015 1 0 0 0 0 23.6 129758 chr10 70949143 70949143 C T rs748939259 SUPV3L1 Synonymous SNV G100G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.85 129759 chr1 84998637 84998637 T C rs34769319 SPATA1 Synonymous SNV D213D 0 0 0 3 0 0 0.008 0 0 0 0 0 2.522 129760 chr1 98348865 98348865 T C DPYD Synonymous SNV K35K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.442 129761 chr20 56082726 56082726 C T rs186033984 CTCFL Synonymous SNV E455E 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 4.203 129762 chr11 32954364 32954364 G A rs183558161 QSER1 Synonymous SNV T520T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.604 129763 chr11 34118061 34118072 CATCAAGTGACT - rs765876772 CAPRIN1 H581_T584del 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 129764 chr11 34158525 34158525 G T rs759259465 NAT10 Nonsynonymous SNV K649N 0.001 0.005 0.007 1 1 2 0.003 2 0 1 0 0 21.7 129765 chr1 207648197 207648197 T C rs142319454 CR2 Synonymous SNV I725I 0.005 0.01 0 0 6 4 0 0 0 0 0 0 Benign 7.584 129766 chr1 208219384 208219384 T C rs753354329 PLXNA2 Nonsynonymous SNV T1112A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.37 129767 chr1 26164006 26164007 GG - rs762902706 AUNIP L40Sfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 129768 chr1 26164009 26164009 G - rs761229800 AUNIP L39Sfs*65 0 0 0.003 0 0 0 0 1 0 0 0 0 129769 chr1 211432908 211432908 C T rs77731153 RCOR3 Synonymous SNV P2P 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 13.85 129770 chr20 32341160 32341160 T C rs73094865 ZNF341 Synonymous SNV A134A 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 0.175 129771 chr1 211751595 211751595 G A rs116028646 SLC30A1 Synonymous SNV G120G 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 15.39 129772 chr10 79742483 79742483 A G POLR3A Synonymous SNV C1174C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.408 129773 chr20 33169401 33169401 G A rs140688826 PIGU Synonymous SNV D334D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.42 129774 chr1 27651787 27651787 A G rs80088173 ACTG1P20 0 0 0.007 0 0 0 0 2 0 0 0 0 2.729 129775 chr11 45869056 45869079 GGCGACGGCGGCAGCTGTGGCCCC - CRY2 T7_A14del 0.001 0 0 0 1 0 0 0 0 0 0 0 129776 chr11 45986996 45986996 T C PHF21A Nonsynonymous SNV N288S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 129777 chr20 33586384 33586384 C T rs142169466 MYH7B Synonymous SNV A1357A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 129778 chr1 214209042 214209042 C T rs763840436 PROX1 Synonymous SNV F693F 0.006 0.005 0 0 7 2 0 0 0 0 0 0 10.12 129779 chr11 47182742 47182742 - T rs34737621 C11orf49, C11orf49 *275delinsLSVKWEDTAPLWGPDGSDTAVPHLGPTPLVCNIPHLPGKGLGASGGLRCPSL* 0.001 0 0 0 1 0 0 0 0 0 0 0 129780 chr1 31188935 31188935 C T rs143893133 MATN1 Nonsynonymous SNV R343Q 0.003 0.005 0.007 6 4 2 0.015 2 0 0 0 0 22.4 129781 chr1 31192304 31192304 G T rs1149040 MATN1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.979 129782 chr20 3655456 3655456 T G rs770975468 ADAM33 Nonsynonymous SNV D125A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.015 129783 chr1 915768 915768 A G rs568513607 PERM1 Synonymous SNV P214P 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 0.116 129784 chr20 36784336 36784336 G A rs138618726 TGM2 Nonsynonymous SNV R56C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 129785 chr11 48185947 48185947 G C PTPRJ Nonsynonymous SNV R1245S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 129786 chr1 3328933 3328933 G A rs773130347 PRDM16 Synonymous SNV A724A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.372 129787 chr1 220101499 220101499 G A rs188273166 SLC30A10 Nonsynonymous SNV T95I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 31 129788 chr20 20144789 20144789 C T CFAP61 Synonymous SNV P374P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 129789 chr20 37580402 37580402 C T rs61752513 FAM83D Nonsynonymous SNV R333W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 129790 chr1 35227239 35227239 G A rs149110828 GJB4 Stop gain W128X 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 38 129791 chr1 22176684 22176684 T A rs2229485 HSPG2 Synonymous SNV A2433A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 13.81 129792 chr10 96602699 96602699 A C rs371241592 CYP2C19 Nonsynonymous SNV Q356P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 129793 chr20 62198737 62198737 G A rs116184161 HELZ2 Synonymous SNV V89V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.84 129794 chr1 38478503 38478503 A C rs140106359 UTP11 Nonsynonymous SNV K10T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 129795 chr1 225231491 225231491 A - DNAH14 E605Dfs*11 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 129796 chr20 30064462 30064462 G A rs111596332 REM1 Nonsynonymous SNV D72N 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 129797 chr20 30157001 30157001 G A rs199587821 HM13 Synonymous SNV G371G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 129798 chr20 30053322 30053322 T G rs148140130 DEFB124 Nonsynonymous SNV H68P 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 0.001 129799 chr20 16407800 16407800 - GGACCCA rs567324742 KIF16B Frameshift insertion Q521Wfs*34 0 0 0 2 0 0 0.005 0 0 0 0 0 129800 chr20 46295174 46295174 G A rs115495231 SULF2 Synonymous SNV D545D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 3.051 129801 chr20 30556093 30556093 C T rs1024502683 XKR7 Nonsynonymous SNV P39S 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 3.595 129802 chr20 46313319 46313319 C T rs199730858 SULF2 Synonymous SNV P248P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.16 129803 chr21 15746418 15746418 C T rs200061431 HSPA13 Synonymous SNV T312T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.01 129804 chr1 227216625 227216625 T C rs146203858 CDC42BPA Nonsynonymous SNV I1326V 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.002 129805 chr10 102046402 102046402 G C rs12250221 BLOC1S2 Synonymous SNV A5A 0.005 0.005 0.01 1 6 2 0.003 3 0 0 1 0 6.264 129806 chr20 32247335 32247335 G A rs566869732 NECAB3 Nonsynonymous SNV R283C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.4 129807 chr1 43803899 43803899 C T rs61754776 MPL Nonsynonymous SNV P70L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.38 129808 chr1 43919368 43919368 C G rs775021587 HYI Nonsynonymous SNV E33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 129809 chr1 44075067 44075067 T C PTPRF Nonsynonymous SNV S987P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 129810 chr20 33575422 33575422 C T rs200232362 MYH7B Nonsynonymous SNV H446Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 129811 chr20 52192375 52192375 G A rs201787589 ZNF217 Synonymous SNV S976S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.29 129812 chr1 45509001 45509001 T C rs199535486 ZSWIM5 Nonsynonymous SNV Q500R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 129813 chr20 33589328 33589328 C T rs61746160 MYH7B Nonsynonymous SNV A1934V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 29.1 129814 chr20 55047422 55047422 A G RTF2 Nonsynonymous SNV H37R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.464 129815 chr20 36793599 36793599 A G rs761448646 TGM2 Star tloss M1? 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 17.57 129816 chr1 52703448 52703448 A G rs61753387 ZFYVE9 Nonsynonymous SNV Y120C 0.003 0.008 0.017 2 4 3 0.005 5 0 0 0 0 12.68 129817 chr1 230928629 230928629 G A rs769880929 CAPN9 Nonsynonymous SNV G546S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 33 129818 chr20 4202510 4202510 G A rs55915202 ADRA1D Nonsynonymous SNV A460V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.2 129819 chr20 30661538 30661538 C T rs146350710 HCK Synonymous SNV I61I 0 0 0 5 0 0 0.013 0 0 0 0 0 18.56 129820 chr1 53932293 53932293 G A rs374195119 DMRTB1 Synonymous SNV S329S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.349 129821 chr20 31549047 31549047 C T rs75006708 EFCAB8 Nonsynonymous SNV R1167C 0.004 0.005 0.003 6 5 2 0.015 1 0 0 0 0 0.253 129822 chr20 31889150 31889150 G C rs34548457 BPIFB1 Nonsynonymous SNV D287H 0 0 0.003 5 0 0 0.013 1 0 0 0 0 23.9 129823 chr20 44515322 44515322 C T rs76638086 SPATA25 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 129824 chr20 44641977 44641977 C T rs148151404 MMP9 Nonsynonymous SNV P472S 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Uncertain significance 24.4 129825 chr20 33872185 33872185 T C rs957723328 EIF6 Nonsynonymous SNV S36G 0 0 0 4 0 0 0.01 0 0 0 0 0 23.4 129826 chr1 6269069 6269069 C A rs200960066 RNF207 Nonsynonymous SNV D151E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 21.2 129827 chr20 47887395 47887395 G A rs779927671 ZNFX1 Synonymous SNV T318T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.002 129828 chr20 34776298 34776298 C T rs146637110 EPB41L1 Synonymous SNV G239G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Likely benign 18.85 129829 chr21 44846055 44846055 C T rs376640139 SIK1, SIK1B Nonsynonymous SNV V2I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 32 129830 chr1 241661227 241661227 - TTT rs367543046 FH K477_N478insK 0.003 0.003 0 0 4 1 0 0 0 0 0 0 129831 chr20 55027850 55027850 C T rs186338077 CASS4 Nonsynonymous SNV R486C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.2 129832 chr20 55982753 55982753 C A RBM38 Nonsynonymous SNV P191T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.1 129833 chr20 62407305 62407305 C G rs993251105 ZBTB46 Synonymous SNV L316L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.774 129834 chr20 42697311 42697311 G A rs754898188 TOX2 Synonymous SNV S484S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.43 129835 chr1 68897242 68897242 C T rs62653014 RPE65 Synonymous SNV T385T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign/Likely benign 10.19 129836 chr20 57429628 57429663 CGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGA - rs771647935 GNAS P391_I402del 0.001 0 0 0 1 0 0 0 0 0 0 0 129837 chr20 57768953 57768953 C A rs116053307 ZNF831 Nonsynonymous SNV P960Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 129838 chr11 60105331 60105331 G A MS4A6E Nonsynonymous SNV E89K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 129839 chr21 27425564 27425564 G A rs199591984 APP Synonymous SNV T96T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.89 129840 chr21 28210368 28210368 G A rs149580995 ADAMTS1 Nonsynonymous SNV R812C 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 33 129841 chr10 135020218 135020218 A G KNDC1 Synonymous SNV K1139K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.1 129842 chr1 8045079 8045079 G A rs71653622 PARK7 Nonsynonymous SNV A179T 0 0.018 0.003 2 0 7 0.005 1 0 0 0 0 Uncertain significance 9.007 129843 chr22 17688141 17688141 A G rs189403607 ADA2 Star tloss M1? 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Uncertain significance 9.541 129844 chr22 19034368 19034368 A G DGCR11 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.813 129845 chr1 85656231 85656231 G A SYDE2 Nonsynonymous SNV S317L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.88 129846 chr1 865628 865628 G A rs41285790 SAMD11 Nonsynonymous SNV G56S 0.009 0.005 0.01 4 11 2 0.01 3 1 0 0 0 Likely benign 22 129847 chr11 60893237 60893237 C T CD5 Synonymous SNV L415L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 129848 chr22 19967424 19967424 C T rs774446606 ARVCF Nonsynonymous SNV R413Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.9 129849 chr1 248845475 248845475 A G rs144253792 OR14I1 Nonsynonymous SNV I44T 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 2.983 129850 chr1 249210871 249210871 A G rs759559846 PGBD2 Nonsynonymous SNV M30V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 5.44 129851 chr11 62381840 62381840 A G rs774359833 ROM1 Nonsynonymous SNV Y234C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 22.2 129852 chr11 47653245 47653245 C T rs201087705 MTCH2 Nonsynonymous SNV A121T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 35 129853 chr11 62434147 62434147 T G rs756496301 CSKMT Nonsynonymous SNV M116R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 129854 chr11 62601407 62601407 G A WDR74 Nonsynonymous SNV R260C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 129855 chr1 25881403 25881403 G A rs139877665 LDLRAP1 Nonsynonymous SNV R95Q 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 129856 chr1 9067417 9067417 C T rs74767526 SLC2A7 Nonsynonymous SNV G382S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 129857 chr22 24220053 24220053 G C rs34605560 SLC2A11 Nonsynonymous SNV A228P 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 18.6 129858 chr20 62226976 62226976 G A GMEB2 Synonymous SNV P202P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 3.647 129859 chr1 92643916 92643916 A C rs991595487 KIAA1107 Nonsynonymous SNV Q317P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 129860 chr11 63233779 63233779 G A rs148718280 PLAAT5 Nonsynonymous SNV R184C 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 24.7 129861 chr22 24939922 24939922 A G rs144330841 GUCD1 Synonymous SNV S228S 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 3.542 129862 chr20 62374339 62374339 - CTAAGTCCGG SLC2A4RG Stop gain D387_X388delinsDX 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 129863 chr11 63960612 63960612 A G rs184037690 STIP1 Synonymous SNV L71L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.285 129864 chr20 6759436 6759436 G A rs147542801 BMP2 Synonymous SNV K297K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.382 129865 chr1 9932090 9932090 C T rs139825449 CTNNBIP1 Synonymous SNV P11P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 20.6 129866 chr20 60773009 60773009 G A rs145129303 MTG2 Nonsynonymous SNV V152I 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 0.109 129867 chr1 29602098 29602098 G A rs972529303 PTPRU Nonsynonymous SNV G428D 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 21.1 129868 chr11 64609200 64609200 G A rs141646335 CDC42BPG Synonymous SNV T86T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 129869 chr20 1184174 1184174 A T C20orf202 Nonsynonymous SNV K5M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 129870 chr21 45153972 45153972 C T rs372699159 PDXK Nonsynonymous SNV A37V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 129871 chr20 126285 126285 T C rs77106211 DEFB126 Synonymous SNV T96T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.017 129872 chr21 45540231 45540231 C G rs142411543 LOC102724159, PWP2 Synonymous SNV V397V 0.003 0 0 0 4 0 0 0 0 0 0 0 12.85 129873 chr21 47410331 47410331 G A rs201525908 COL6A1 Nonsynonymous SNV V333M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 17.8 129874 chr21 34793888 34793888 C T rs139212989 IFNGR2 Nonsynonymous SNV A103V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 5.262 129875 chr20 17596120 17596120 C T rs747707946 RRBP1 Nonsynonymous SNV G1336S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 129876 chr1 36056263 36056263 C T rs140768899 TFAP2E Synonymous SNV F311F 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 16.39 129877 chr21 47783641 47783641 G C rs768407552 PCNT Nonsynonymous SNV D683H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 129878 chr1 36939403 36939403 C G rs139332126 CSF3R Nonsynonymous SNV E149D 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign/Likely benign 0.038 129879 chr20 62324310 62324310 C T rs12625047 RTEL1 Synonymous SNV L712L 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 Benign/Likely benign 10.87 129880 chr11 67399173 67399173 C T rs146672518 TBX10 Nonsynonymous SNV R354Q 0.008 0.005 0.003 4 9 2 0.01 1 0 0 0 0 4.976 129881 chr11 67810474 67810474 G A rs186758849 TCIRG1 Nonsynonymous SNV G160E 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign/Likely benign 0.109 129882 chr21 42551395 42551395 G A rs753034883 PLAC4 0.001 0 0 0 1 0 0 0 0 0 0 0 3.93 129883 chr21 43258138 43258138 C T rs76107411 PRDM15 Synonymous SNV P339P 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 17.34 129884 chr22 38610837 38610854 CCCCGCCCACGGCCCGGA - rs778849237 MAFF D126_P131del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 129885 chr20 25472120 25472120 C T rs765812351 NINL Nonsynonymous SNV R451Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 129886 chr20 256717 256717 T G C20orf96 Nonsynonymous SNV Q307P 0 0 0.003 0 0 0 0 1 0 0 0 0 23 129887 chr11 2182139 2182139 T C rs11564720 INS, INS-IGF2 Synonymous SNV P21P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 0.003 129888 chr20 2633928 2633928 G A rs751836247 NOP56 Nonsynonymous SNV E33K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 129889 chr22 23523316 23523316 A G BCR Nonsynonymous SNV I57V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 129890 chr21 44839263 44839263 C T rs34987632 SIK1, SIK1B Nonsynonymous SNV M405I 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign/Likely benign 17 129891 chr22 24143308 24143308 C T rs62642539 SMARCB1 Synonymous SNV S171S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 5.193 129892 chr22 24236638 24236638 G A rs149423910 MIF-AS1 0.008 0.013 0.007 0 9 5 0 2 0 0 0 0 10.42 129893 chr20 3103188 3103188 C T rs146142981 UBOX5 Nonsynonymous SNV D33N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 129894 chr11 3660872 3660872 C T rs764936751 ART5 Nonsynonymous SNV G263R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.8 129895 chr21 45738403 45738403 T G rs147090120 PFKL Synonymous SNV P329P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.144 129896 chr21 32410598 32410598 T C rs756282098 KRTAP19-8 Synonymous SNV G55G 0.004 0 0 5 5 0 0.013 0 0 0 0 0 0.032 129897 chr11 74979999 74979999 C T rs373432274 ARRB1 Nonsynonymous SNV V335M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 129898 chr21 45978052 45978052 T A rs202130377 KRTAP10-3 Nonsynonymous SNV T183S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 129899 chr21 45978058 45978058 C T rs587750691 KRTAP10-3 Nonsynonymous SNV A181T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 129900 chr21 45978059 45978059 A G rs587652264 KRTAP10-3 Synonymous SNV P180P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 129901 chr21 45978482 45978482 C T rs371451976 KRTAP10-3 Synonymous SNV P39P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.35 129902 chr11 75902754 75902754 C T rs141072454 WNT11 Synonymous SNV V248V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.27 129903 chr21 45978539 45978539 G A rs111327969 KRTAP10-3 Synonymous SNV D20D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.657 129904 chr22 43870779 43870779 C T MPPED1 Synonymous SNV N190N 0.005 0 0 0 6 0 0 0 0 0 0 0 8.28 129905 chr21 46360076 46360076 C T rs4818742 FAM207A Nonsynonymous SNV P35L 0.006 0.003 0.003 1 7 1 0.003 1 2 0 0 0 6.583 129906 chr20 3520965 3520965 G A rs773327296 ATRN Synonymous SNV P81P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 129907 chr11 78497992 78497992 G A rs375389326 TENM4 Synonymous SNV D772D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 129908 chr20 3732681 3732681 C T rs746981769 HSPA12B Synonymous SNV T557T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.005 129909 chr21 47848466 47848466 C T rs12481791 PCNT Nonsynonymous SNV A2433V 0.005 0.008 0.01 5 6 3 0.013 3 0 0 0 0 Benign 23.7 129910 chr20 43251240 43251240 A G rs116962828 ADA Synonymous SNV H143H 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign/Likely benign 2.083 129911 chr22 31672784 31672784 C T rs368242418 LIMK2 Synonymous SNV P573P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.531 129912 chr11 88027365 88027365 C T rs200627023 CTSC Nonsynonymous SNV E401K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.2 129913 chr22 46658965 46658965 C T rs184192527 PKDREJ Synonymous SNV G85G 0.003 0 0 0 4 0 0 0 0 0 0 0 9.839 129914 chr22 17619517 17619517 C G rs151288224 HDHD5 Nonsynonymous SNV Q256H 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 7.658 129915 chr1 53679027 53679027 C T rs957344521 CPT2 Synonymous SNV Y579Y 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.653 129916 chr22 17623989 17623989 T A HDHD5 Nonsynonymous SNV E160D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.74 129917 chr22 37266384 37266384 C T rs28485904 NCF4-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.347 129918 chr22 19885574 19885574 G A rs180876642 TXNRD2 Synonymous SNV R254R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 13.72 129919 chr11 95712555 95712555 A G rs756004907 MAML2 Nonsynonymous SNV S1010P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.205 129920 chr22 38204034 38204034 A T GCAT Synonymous SNV A20A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.626 129921 chr11 57582878 57582878 C A rs200768776 CTNND1 Nonsynonymous SNV S777Y 0.001 0 0 4 1 0 0.01 0 0 0 0 0 32 129922 chr20 50235228 50235228 G A ATP9A Nonsynonymous SNV R775C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 129923 chr22 38610836 38610836 - CCCCGCCCACGGCCCGGA rs747019121 MAFF P131_A132insDPAHGP 0.003 0.003 0 0 3 1 0 0 0 0 0 0 129924 chr22 50546633 50546633 G A rs147590689 MOV10L1 Nonsynonymous SNV E171K 0.006 0.01 0.003 2 7 4 0.005 1 0 0 0 0 11.2 129925 chr20 5283323 5283323 A C rs74315416 PROKR2 Nonsynonymous SNV L173R 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 129926 chr22 22288399 22288399 C T rs34639823 PPM1F Synonymous SNV L185L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.3 129927 chr22 41553265 41553265 C T rs11704815 EP300 Synonymous SNV V1092V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.69 129928 chr22 50900994 50900994 G C rs768622629 SBF1 Synonymous SNV P708P 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 Likely benign 1.516 129929 chr11 113267947 113267947 C A rs138608171 ANKK1 Nonsynonymous SNV D280E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 8.975 129930 chr11 6239126 6239126 G A rs146982586 FAM160A2 Nonsynonymous SNV R564C 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 21.9 129931 chr11 113565250 113565250 G A rs374825853 TMPRSS5 Synonymous SNV G201G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.332 129932 chr22 26880006 26880006 C T rs371251054 SRRD Synonymous SNV G50G 0.001 0.013 0 0 1 5 0 0 0 0 0 0 10.19 129933 chr11 114441950 114441950 G A rs750280300 NXPE4 Stop gain R449X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 129934 chr22 29445702 29445702 C T rs375503504 ZNRF3 Synonymous SNV T511T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.332 129935 chr22 29876438 29876438 A G rs1027454094 NEFH Nonsynonymous SNV S63G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.682 129936 chr11 117052610 117052610 C T rs199775774 SIDT2 Synonymous SNV Y131Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 129937 chr11 117060735 117060735 A G rs370622770 SIDT2 Nonsynonymous SNV N496S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 129938 chr2 106761806 106761806 G A rs780126015 UXS1 Synonymous SNV F104F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 129939 chr13 109550450 109550450 G A MYO16 Synonymous SNV Q582Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.711 129940 chr22 30766687 30766687 A G rs753761288 CCDC157 Nonsynonymous SNV R265G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.8 129941 chr11 117279713 117279713 G A rs149567170 CEP164 Synonymous SNV P1242P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.208 129942 chr22 17447108 17447108 A G rs200396257 GAB4 Synonymous SNV L237L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.004 129943 chr11 118509659 118509659 C T rs34608961 PHLDB1 Synonymous SNV A862A 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 18.21 129944 chr1 78045296 78045296 T C rs375913742 ZZZ3 Synonymous SNV L172L 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 0.174 129945 chr11 119181573 119181573 G A rs141858125 MCAM Synonymous SNV I562I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.53 129946 chr11 119215091 119215091 C T rs777996384 MFRP Synonymous SNV G303G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 129947 chr11 64427912 64427912 T A rs138291758 NRXN2 Nonsynonymous SNV M730L 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 22.2 129948 chr22 19964986 19964986 G A rs199498113 ARVCF Nonsynonymous SNV R608C 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Likely benign 33 129949 chr20 62407147 62407147 T C ZBTB46 Nonsynonymous SNV N369S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 129950 chr22 32110509 32110509 T C rs748228992 PRR14L Nonsynonymous SNV T1106A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.018 129951 chr22 31654306 31654306 A G LIMK2 Nonsynonymous SNV N28S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.14 129952 chr11 64781664 64781664 - GGGGCTCCGGGGACCAT rs749190023 ARL2-SNX15 0 0 0 3 0 0 0.008 0 0 0 0 0 129953 chr11 121016665 121016665 C T rs371415947 TECTA Synonymous SNV H1315H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.1 129954 chr1 86374334 86374334 C A rs927931015 COL24A1 Stop gain G191X 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 41 129955 chr22 32297762 32297762 C A rs372176746 DEPDC5 Nonsynonymous SNV H1370Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.22 129956 chr11 65416867 65416867 A G rs139438277 SIPA1 Nonsynonymous SNV D814G 0 0 0.01 4 0 0 0.01 3 0 0 0 0 8.352 129957 chr11 65482124 65482124 C T KAT5 Synonymous SNV Y231Y 0 0 0 4 0 0 0.01 0 0 0 0 0 10.29 129958 chr1 89290017 89290017 G A rs771912894 PKN2 Synonymous SNV L741L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 9.793 129959 chr14 20849117 20849117 G A rs143109919 TEP1 Nonsynonymous SNV R1471W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 27.4 129960 chr11 123886818 123886818 C T rs140418650 OR10G4 Synonymous SNV D179D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.183 129961 chr22 36689883 36689883 A G MYH9 Synonymous SNV L1288L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.198 129962 chr22 24456398 24456398 G T rs769648988 CABIN1 Nonsynonymous SNV V421L 0.006 0.013 0 4 7 5 0.01 0 0 0 0 0 27.7 129963 chr11 11373588 11373588 G A rs201862125 CSNK2A3 Nonsynonymous SNV T360I 0.007 0.01 0.014 4 8 4 0.01 4 0 0 0 0 6.387 129964 chr22 37260123 37260123 G A rs10854695 NCF4 Synonymous SNV S23S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign/Likely benign 12.23 129965 chr22 37334352 37334352 G T rs16997520 CSF2RB Synonymous SNV S834S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.644 129966 chr21 34117963 34117963 G C rs772911403 PAXBP1 Nonsynonymous SNV R664G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 129967 chr2 105472776 105472778 CAC - rs776137937 POU3F3 H277del 0.001 0 0 0 1 0 0 0 0 0 0 0 129968 chr11 124766492 124766492 C A rs368211092 ROBO4 Nonsynonymous SNV G14W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.21 129969 chr11 67020312 67020312 C T rs374069793 KDM2A Synonymous SNV L533L 0 0 0 4 0 0 0.01 0 0 0 0 0 16.43 129970 chr11 67287311 67287311 A G rs145369252 CABP2 Nonsynonymous SNV I203T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Uncertain significance 26.1 129971 chr21 37758558 37758558 A G rs762129577 CHAF1B Nonsynonymous SNV R42G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 129972 chr11 68700825 68700825 G A rs116012780 IGHMBP2 Nonsynonymous SNV A432T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign/Likely benign 7.598 129973 chr1 93303114 93303114 A G rs11540832 RPL5 Nonsynonymous SNV Y210C 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign/Likely benign 23.6 129974 chr21 38580808 38580808 T C rs73218601 DSCR9 0 0 0.058 0 0 0 0 17 0 0 1 0 2.24 129975 chr1 94508354 94508354 T C rs61750118 ABCA4 Synonymous SNV R1097R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 2.788 129976 chr1 94640030 94640030 C T rs141653334 ARHGAP29 Nonsynonymous SNV A997T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Uncertain significance 7.503 129977 chr2 11758901 11758901 C T rs566539374 GREB1 Synonymous SNV S1300S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 129978 chr1 981866 981866 C G rs752212460 AGRN Nonsynonymous SNV P1001A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.905 129979 chr11 71819718 71819718 G A rs61741195 LRTOMT Nonsynonymous SNV R208Q 0.014 0 0.014 10 16 0 0.026 4 1 0 0 0 Benign/Likely benign 11.43 129980 chr11 25004818 25004818 A C rs75747459 LUZP2 Synonymous SNV P206P 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 0.019 129981 chr11 73103491 73103491 C T rs150760056 RELT Synonymous SNV P201P 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 11.16 129982 chr12 667248 667248 C T rs146832789 B4GALNT3 Synonymous SNV L867L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.46 129983 chr11 27384730 27384730 C T rs35051727 CCDC34 Synonymous SNV A4A 0.006 0.008 0 0 7 3 0 0 0 0 0 0 14.77 129984 chr22 43583014 43583014 G A TTLL12 Nonsynonymous SNV P21L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 129985 chr22 50191552 50191552 G A rs148277487 BRD1 Nonsynonymous SNV R662W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 129986 chr11 34192538 34192538 C T rs751166959 ABTB2 Nonsynonymous SNV R493H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 35 129987 chr21 45389065 45389065 C T rs199840470 AGPAT3 Synonymous SNV L139L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.18 129988 chr2 163144752 163144752 G A rs141848057 IFIH1 Nonsynonymous SNV P330S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.6 129989 chr21 45753117 45753117 C A rs75087725 CFAP410 Nonsynonymous SNV V58L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 15.88 129990 chr22 37602611 37602611 C G rs229568 SSTR3 Nonsynonymous SNV S411T 0.007 0.003 0.003 4 8 1 0.01 1 1 0 0 0 11.15 129991 chr22 46658490 46658490 A G PKDREJ Nonsynonymous SNV S244P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 5.503 129992 chr14 39509974 39509974 T C rs138568622 SEC23A Nonsynonymous SNV M702V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Pathogenic 5.499 129993 chr22 47569244 47569244 A G rs763586138 TBC1D22A Nonsynonymous SNV D432G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 129994 chr21 46952006 46952006 G C rs1051269 SLC19A1 Synonymous SNV P42P 0.007 0.005 0.027 2 8 2 0.005 8 0 0 0 0 Benign 0.546 129995 chr12 6711240 6711240 G A rs769599701 CHD4 Synonymous SNV S101S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.485 129996 chr11 93416808 93416808 A G rs374987584 CEP295 Synonymous SNV P283P 0 0 0 3 0 0 0.008 0 0 0 0 0 12.29 129997 chr12 7521563 7521563 - GAGAGA rs781351459 CD163L1 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 129998 chr22 50955878 50955878 T C NCAPH2 Nonsynonymous SNV V78A 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 129999 chr20 25655849 25655849 C T rs146305250 ZNF337 Nonsynonymous SNV R692Q 0.008 0.005 0.014 3 9 2 0.008 4 0 0 0 0 27.4 130000 chr2 100199420 100199420 G A rs557360368 AFF3 Nonsynonymous SNV S903L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 130001 chr12 9087003 9087003 A G PHC1 Nonsynonymous SNV I728V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.728 130002 chr20 2621821 2621823 AAG - rs142900000 TMC2 K850del 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 130003 chr2 101009849 101009849 G A rs367887748 CHST10 Nonsynonymous SNV P310L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 19.1 130004 chr2 160139273 160139273 C G rs147091578 WDSUB1 Nonsynonymous SNV C103S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 130005 chr20 31097852 31097852 C A rs560092444 LOC101929698 0.003 0 0.007 0 3 0 0 2 0 0 0 0 9.828 130006 chr2 102804337 102804337 T C IL1RL2 Synonymous SNV L4L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.015 130007 chr2 163134104 163134104 G A rs186942719 IFIH1 Nonsynonymous SNV A622V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 130008 chr22 21988641 21988641 C T rs149779766 CCDC116 Nonsynonymous SNV R135W 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.7 130009 chr22 21988737 21988737 G A rs202098251 CCDC116 Nonsynonymous SNV G167S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.1 130010 chr22 22064925 22064925 T C YPEL1 Nonsynonymous SNV I37V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.89 130011 chr22 22842555 22842555 T C ZNF280B Nonsynonymous SNV Q390R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 130012 chr22 46652593 46652593 C T rs375348849 PKDREJ Synonymous SNV S2209S 0 0 0 3 0 0 0.008 0 0 0 0 0 8.088 130013 chr22 23492257 23492257 C T rs141582528 RAB36 Nonsynonymous SNV T92M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 130014 chr22 50192683 50192683 G A rs776074037 BRD1 Synonymous SNV L537L 0 0 0 3 0 0 0.008 0 0 0 0 0 10.38 130015 chr22 26164255 26164255 T C rs41281571 MYO18B Synonymous SNV N124N 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Benign 0.029 130016 chr14 67390981 67390981 A G rs41285470 GPHN Nonsynonymous SNV N267S 0.02 0.016 0.017 9 23 6 0.023 5 0 0 0 0 Likely benign 0.527 130017 chr11 56114237 56114237 C T rs147003202 OR8K1 Synonymous SNV Y241Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.903 130018 chr22 29925205 29925205 C T rs576714272 THOC5 Nonsynonymous SNV E291K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 130019 chr2 121736059 121736059 G A rs150170739 GLI2 Nonsynonymous SNV R331H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 130020 chr22 31285774 31285774 C T rs144503049 LOC107985544 0 0 0.003 0 0 0 0 1 0 0 0 0 2.578 130021 chr2 128341722 128341722 G A rs144080203 MYO7B Nonsynonymous SNV A457T 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 29.1 130022 chr2 128392255 128392255 G A rs750715742 MYO7B Nonsynonymous SNV E1878K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 130023 chr22 32881124 32881124 A G rs200924336 FBXO7 Nonsynonymous SNV M160V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 130024 chr2 198257075 198257075 G A rs78516934 SF3B1 Synonymous SNV N1289N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 8.531 130025 chr2 198460748 198460748 T G rs77442629 RFTN2 Synonymous SNV P400P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.413 130026 chr2 20166496 20166496 T A rs143343508 WDR35 Nonsynonymous SNV N395Y 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 130027 chr12 40076459 40076459 G C rs767542828 C12orf40 Nonsynonymous SNV D245H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 130028 chr22 37465369 37465369 C G TMPRSS6 Synonymous SNV V619V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.715 130029 chr12 40114932 40114932 A G rs767767359 C12orf40 Nonsynonymous SNV Q613R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 130030 chr22 38014526 38014526 C T rs574222429 GGA1 Synonymous SNV N92N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.72 130031 chr2 144008159 144008159 A C ARHGAP15 Nonsynonymous SNV N155T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 130032 chr2 112940404 112940404 G A rs777249747 FBLN7 Nonsynonymous SNV R190H 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 22.8 130033 chr12 48185448 48185448 C T rs73107974 HDAC7 Synonymous SNV S581S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 18.97 130034 chr20 54987530 54987530 A G rs138191448 CASS4 Nonsynonymous SNV I6V 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 0.001 130035 chr20 55027586 55027586 G A rs200228453 CASS4 Nonsynonymous SNV V398I 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 23 130036 chr14 91701023 91701023 G C rs141731950 GPR68 Synonymous SNV A124A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.082 130037 chr22 42354487 42354487 - GAGAGA rs149263017 LINC00634 0 0 0.017 0 0 0 0 5 0 0 1 0 130038 chr22 43608690 43608690 C T rs7284854 LOC105373051 0 0 0.014 0 0 0 0 4 0 0 1 0 11.57 130039 chr11 60184467 60184467 C T rs151183005 MS4A14 Nonsynonymous SNV P659S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 10.45 130040 chr2 1652362 1652362 C T rs202132697 PXDN Nonsynonymous SNV A1064T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27 130041 chr2 21227979 21227979 C T rs72654409 APOB Nonsynonymous SNV V3921I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 130042 chr12 50745394 50745394 C T rs201614087 FAM186A Nonsynonymous SNV A1741T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.016 130043 chr2 21235500 21235500 G T APOB Nonsynonymous SNV H1414N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 130044 chr2 21365346 21365346 T C TDRD15 Synonymous SNV Y1669Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 130045 chr2 167060609 167060609 T G SCN9A Nonsynonymous SNV T1544P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.882 130046 chr2 190608044 190608044 A T ANKAR Nonsynonymous SNV N1285I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 130047 chr2 16080720 16080720 T G MYCN Synonymous SNV A4A 0.008 0 0 1 9 0 0.003 0 0 0 0 0 15.82 130048 chr22 46829349 46829349 C A rs61737817 CELSR1 Nonsynonymous SNV V1518F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 130049 chr2 166896101 166896101 G A rs145101180 SCN1A Synonymous SNV F807F 0.008 0.016 0 1 9 6 0.003 0 0 0 0 0 Benign/Likely benign 12.01 130050 chr2 141707955 141707955 G A rs114310880 LRP1B Synonymous SNV D995D 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.82 130051 chr2 172583352 172583352 G A rs935890977 DYNC1I2 Nonsynonymous SNV E300K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.7 130052 chr2 219886953 219886953 G A rs139797387 CFAP65 Synonymous SNV P973P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.694 130053 chr2 158412701 158412701 T G rs55920843 ACVR1C Nonsynonymous SNV N100H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Benign 21.8 130054 chr2 179482994 179482994 G A rs72677231 TTN Nonsynonymous SNV R6666C 0.003 0.003 0.017 3 4 1 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 130055 chr12 53086303 53086303 G A rs145264018 KRT77 Synonymous SNV A443A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 130056 chr12 6094740 6094740 G A rs201372397 VWF Nonsynonymous SNV P2297L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 32 130057 chr11 64367331 64367331 C T rs142344676 SLC22A12 Synonymous SNV L310L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 6.904 130058 chr11 64534484 64534484 T C rs369316385 SF1 Nonsynonymous SNV T377A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.201 130059 chr2 172693718 172693718 G A rs759201054 SLC25A12 Synonymous SNV G175G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 11.3 130060 chr2 165994476 165994476 A G rs72870766 SCN3A Synonymous SNV I719I 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign/Likely benign 6.116 130061 chr2 182339706 182339706 T C rs199774682 ITGA4 Synonymous SNV P113P 0.014 0.01 0.003 5 16 4 0.013 1 0 0 0 0 4.829 130062 chr12 54379343 54379343 C T rs367774632 HOXC10 Synonymous SNV S100S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.6 130063 chr12 54635572 54635572 C A rs143171693 CBX5 Synonymous SNV A181A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 130064 chr2 21229068 21229068 G A rs12713559 APOB Nonsynonymous SNV R3558C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 33 130065 chr2 21229873 21229873 G A rs72654404 APOB Synonymous SNV D3289D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.019 130066 chr2 21236138 21236138 G A rs768988904 APOB Synonymous SNV S1370S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.75 130067 chr2 109964258 109964258 C T rs139133729 SH3RF3 Synonymous SNV G234G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 130068 chr2 110259098 110259098 G A rs143190008 SH3RF3 Synonymous SNV S833S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 130069 chr2 11245582 11245583 AC - rs111702729 FLJ33534 0 0 0.003 0 0 0 0 1 0 0 0 0 130070 chr11 65618606 65618606 C T rs145418728 SNX32 Synonymous SNV A228A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 19.39 130071 chr2 186670536 186670536 C T rs137864187 FSIP2 Synonymous SNV S5501S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 130072 chr11 65810064 65810064 C T rs756451940 GAL3ST3 Nonsynonymous SNV G404S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 13.1 130073 chr2 186673805 186673805 C T rs201876794 FSIP2 Nonsynonymous SNV T6591I 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 12.71 130074 chr21 33686957 33686957 C T rs140113354 MRAP Nonsynonymous SNV A101V 0.022 0.013 0.014 7 26 5 0.018 4 0 0 0 0 3.9 130075 chr21 33735605 33735605 A T rs148292685 URB1 Nonsynonymous SNV S457T 0.022 0.013 0.014 7 26 5 0.018 4 0 0 0 0 Benign 18.29 130076 chr12 57397793 57397793 G A rs150034545 ZBTB39 Synonymous SNV D303D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.165 130077 chr11 67266279 67266279 G A rs149766151 PITPNM1 Synonymous SNV C424C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.621 130078 chr2 219544789 219544789 G A rs148468254 STK36 Synonymous SNV V374V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.092 130079 chr2 190609504 190609504 C T rs61744814 ANKAR Synonymous SNV I1349I 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 14.36 130080 chr2 190611304 190611304 A T rs112668352 ANKAR Nonsynonymous SNV Q1419L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 22 130081 chr2 190670407 190670407 T C rs2066457 PMS1 Synonymous SNV D54D 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 6.112 130082 chr2 219692597 219692597 T C rs41272689 PRKAG3 Nonsynonymous SNV Q260R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 130083 chr2 232156103 232156103 G A rs766850144 ARMC9 Nonsynonymous SNV G522D 0.012 0.003 0 2 14 1 0.005 0 0 0 0 0 20.6 130084 chr2 192012816 192012816 A G rs35500382 STAT4 Synonymous SNV I38I 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 8.231 130085 chr2 128366291 128366291 G T MYO7B Synonymous SNV L884L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.529 130086 chr2 128464065 128464065 G A rs754357420 WDR33 Synonymous SNV D1281D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.674 130087 chr2 220096749 220096751 ACC - rs571893305 ANKZF1 H84del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 130088 chr2 128477031 128477031 T C rs200665934 WDR33 Synonymous SNV P856P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.506 130089 chr2 131672101 131672101 T C rs6752575 ARHGEF4 Synonymous SNV P194P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.433 130090 chr2 135628608 135628608 G C ACMSD Synonymous SNV L160L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.898 130091 chr2 135655939 135655939 C T rs749014739 ACMSD Nonsynonymous SNV P235L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 130092 chr2 234399882 234399882 T G rs773386029 USP40 Nonsynonymous SNV Q980H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 2.655 130093 chr11 70200516 70200516 C T rs139448605 PPFIA1 Nonsynonymous SNV A758V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 23.7 130094 chr12 66800112 66800112 T C GRIP1 Synonymous SNV Q593Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.047 130095 chr2 136499188 136499188 T C rs1438306 LOC107985946 0 0 0.014 0 0 0 0 4 0 0 2 0 6.049 130096 chr2 190927060 190927060 C T rs138343163 MSTN Nonsynonymous SNV R88Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.76 130097 chr11 71630061 71630061 A T rs762647957 LOC100133315 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 130098 chr2 201718077 201718077 T A CLK1 Nonsynonymous SNV R511S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 130099 chr12 71029675 71029675 C T rs200092681 PTPRB Nonsynonymous SNV R76H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 130100 chr2 1946986 1946986 G A rs575777422 MYT1L Synonymous SNV D91D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 0.041 130101 chr12 75900296 75900296 G A rs114719907 KRR1 Nonsynonymous SNV R163W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 130102 chr11 73712523 73712523 G A rs368039089 UCP3 Synonymous SNV F291F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.08 130103 chr2 236626225 236626225 G A rs201400274 AGAP1 Nonsynonymous SNV G83S 0.003 0.01 0 0 4 4 0 0 0 0 0 0 34 130104 chr2 152220579 152220579 G A rs1002258799 TNFAIP6 Nonsynonymous SNV A73T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 130105 chr2 237405884 237405884 C T rs747845912 IQCA1 Synonymous SNV L86L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.5 130106 chr2 152322518 152322518 C T rs780567490 RIF1 Nonsynonymous SNV P2162S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 130107 chr2 152372992 152372992 G T NEB Nonsynonymous SNV S5928Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 130108 chr12 80865936 80865936 A G PTPRQ Synonymous SNV L192L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.501 130109 chr2 203964369 203964369 G T rs201657702 NBEAL1 Nonsynonymous SNV L372F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.6 130110 chr12 83081371 83081371 T C rs373175598 TMTC2 Synonymous SNV I2I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.02 130111 chr2 153573900 153573900 C T rs562086065 PRPF40A Synonymous SNV P18P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.84 130112 chr12 91449443 91449443 T G KERA Nonsynonymous SNV N206H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 130113 chr2 231327184 231327184 C T rs35985492 SP100 Synonymous SNV D311D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.088 130114 chr12 21453401 21453401 A G SLCO1A2 Nonsynonymous SNV F264S 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 27.1 130115 chr21 45542146 45542146 G A rs147273457 LOC102724159, PWP2 Synonymous SNV A575A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.22 130116 chr2 20507813 20507813 G A PUM2 Nonsynonymous SNV A214V 0.006 0.005 0 0 7 2 0 0 2 0 0 0 25.4 130117 chr21 45797639 45797639 G A rs772629307 TRPM2 Nonsynonymous SNV G333S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 130118 chr12 96429214 96429214 G A rs146423147 LTA4H Synonymous SNV V28V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 18.92 130119 chr12 101018081 101018081 C A rs17030365 GAS2L3 Nonsynonymous SNV P500T 0.013 0.01 0.003 0 15 4 0 1 1 0 0 0 22.9 130120 chr2 163374436 163374436 G A rs148927325 KCNH7 Synonymous SNV S232S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.04 130121 chr2 1653317 1653317 G A rs553601622 PXDN Synonymous SNV D745D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.181 130122 chr2 165550909 165550909 G A COBLL1 Nonsynonymous SNV S998F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 130123 chr2 196762491 196762491 - A rs764444690 DNAH7 0 0.003 0.01 2 0 1 0.005 3 0 0 0 0 130124 chr21 47558456 47558456 C T rs61735839 FTCD Nonsynonymous SNV R470Q 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Likely benign 1.556 130125 chr2 197707492 197707492 C T rs140965495 PGAP1 Synonymous SNV P472P 0.003 0.003 0 6 4 1 0.015 0 0 0 0 1 17.23 130126 chr2 166894343 166894343 A G rs144679294 SCN1A Synonymous SNV A963A 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 Benign/Likely benign 8.77 130127 chr2 167089942 167089942 G C rs180922748 SCN9A Nonsynonymous SNV L1278V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 130128 chr21 47754525 47754563 TCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAA - rs745901902 PCNT P47_H59del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 130129 chr2 167284443 167284443 C T rs559936352 SCN7A Nonsynonymous SNV R903H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.685 130130 chr12 108618553 108618553 C G rs199888315 WSCD2 Synonymous SNV P240P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.708 130131 chr22 18066216 18066216 G A rs768389321 SLC25A18 Nonsynonymous SNV G109R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25.6 130132 chr12 109961848 109961848 C T rs150971562 UBE3B Synonymous SNV S810S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 17.64 130133 chr2 170462574 170462574 T A rs34753364 PPIG Synonymous SNV T54T 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 Benign 3.909 130134 chr12 110221438 110221438 G A rs111598467 TRPV4 Synonymous SNV D761D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.292 130135 chr22 19163735 19163735 G T SLC25A1 Nonsynonymous SNV R289S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 34 130136 chr2 27324297 27324297 C - rs769335266 CGREF1 D268Mfs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 130137 chr2 27324299 27324348 CCTTCAGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATC - rs770550659 CGREF1 D251Rfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 130138 chr12 49934704 49934704 C T rs139875282 KCNH3 Synonymous SNV N33N 0.003 0 0 7 4 0 0.018 0 0 0 0 0 15.03 130139 chr2 27373166 27373166 G A rs148091174 TCF23 Nonsynonymous SNV G133D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 130140 chr12 111856347 111856347 G A rs752374176 SH2B3 Nonsynonymous SNV C133Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 130141 chr12 112688130 112688130 C G rs745735461 HECTD4 Synonymous SNV P1266P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 130142 chr2 219614737 219614737 A G rs148745444 TTLL4 Nonsynonymous SNV H914R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 130143 chr11 111745843 111745843 G A rs373615647 FDXACB1 Stop gain R560X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 40 130144 chr2 241907653 241907653 G A rs761406206 CROCC2 Nonsynonymous SNV A1459T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.532 130145 chr12 114841579 114841579 G A rs759976245 TBX5 Nonsynonymous SNV P42L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 130146 chr12 51497949 51497949 G A rs778282361 TFCP2 Nonsynonymous SNV P268S 0.005 0.003 0 7 6 1 0.018 0 0 0 0 0 18.07 130147 chr12 119588910 119588910 T G rs200763312 SRRM4 Nonsynonymous SNV C389G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.6 130148 chr2 179479092 179479092 A C TTN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 130149 chr2 179486460 179486462 CTT - rs759525338 TTN E5965del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 130150 chr12 120589183 120589183 C T rs144487749 GCN1 Nonsynonymous SNV V1359I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 130151 chr15 68099048 68099048 G A MAP2K5 Nonsynonymous SNV R426Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 130152 chr15 68624257 68624257 G A rs760657220 ITGA11 Synonymous SNV H570H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.568 130153 chr2 179596554 179596554 T C rs72648942 TTN Nonsynonymous SNV Y4439C 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 130154 chr12 121437336 121437336 G A rs780280661 HNF1A Synonymous SNV P558P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 130155 chr2 179702375 179702375 C T rs370699879 CCDC141 Nonsynonymous SNV V1191I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.141 130156 chr2 42275941 42275941 T C PKDCC Nonsynonymous SNV V201A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.33 130157 chr2 27456374 27456374 G A rs55916426 CAD Synonymous SNV Q999Q 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Benign 10.72 130158 chr12 123498580 123498580 G A rs751373447 PITPNM2 Nonsynonymous SNV R30C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 130159 chr12 53460438 53460438 G T SPRYD3 Nonsynonymous SNV P314T 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 17.47 130160 chr12 53645576 53645576 G A MFSD5 Synonymous SNV Q20Q 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 2.845 130161 chr22 28195606 28195606 - GCTGCTGCTGCTGCTGGG rs775711200 MN1 Q308_Q309insPQQQQQ 0.005 0 0 0 6 0 0 0 0 0 0 0 130162 chr22 28381265 28381265 G A rs373327968 TTC28 Synonymous SNV F1929F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 7.945 130163 chr22 28394507 28394507 C T rs940516781 TTC28-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.965 130164 chr2 231120209 231120209 G C rs138339396 SP140 Nonsynonymous SNV R287P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.067 130165 chr2 231222526 231222526 C T rs191483421 SP140L Synonymous SNV F13F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 130166 chr22 29726395 29726395 C T rs142354304 AP1B1 Nonsynonymous SNV R886Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 21.3 130167 chr2 231223789 231223789 C T rs77976976 SP140L Synonymous SNV S102S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 130168 chr22 30980547 30980547 G A rs148882386 PES1 Nonsynonymous SNV R176C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 28.9 130169 chr12 125603274 125603274 A C rs755100417 AACS Nonsynonymous SNV T362P 0.003 0 0 0 4 0 0 0 0 0 0 0 22 130170 chr2 33518259 33518259 G T rs200895398 LTBP1 Nonsynonymous SNV A723S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.95 130171 chr12 55725764 55725764 T C OR6C3 Nonsynonymous SNV C94R 0.002 0.008 0 5 2 3 0.013 0 0 0 0 0 23.2 130172 chr12 130015620 130015620 C G rs144926631 TMEM132D Nonsynonymous SNV A367P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.14 130173 chr2 234752888 234752888 C T rs147631492 HJURP Synonymous SNV P94P 0.012 0.005 0 1 14 2 0.003 0 0 0 0 0 13.64 130174 chr12 56629485 56629485 G A SLC39A5 0 0 0 5 0 0 0.013 0 0 0 0 0 24.8 130175 chr22 32479074 32479074 G A rs541654306 SLC5A1 Synonymous SNV A72A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 10.17 130176 chr12 132401058 132401058 C T rs55815560 ULK1 Nonsynonymous SNV S665L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 17.5 130177 chr12 132528256 132528256 A G rs748638128 EP400 Nonsynonymous SNV K2145E 0.003 0 0 0 3 0 0 0 0 0 0 0 7.078 130178 chr2 238271991 238271991 G A rs146546544 COL6A3 Nonsynonymous SNV R1383W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 130179 chr2 39025499 39025499 G A rs61757607 DHX57 Nonsynonymous SNV T1266M 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 15.29 130180 chr12 57430122 57430122 A G MYO1A Nonsynonymous SNV L773P 0 0 0 3 0 0 0.008 0 0 0 0 0 19.79 130181 chr2 39262595 39262595 C T rs886254041 SOS1 Nonsynonymous SNV R304Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 130182 chr12 133277869 133277869 - G rs529562240 PXMP2 Frameshift insertion F148Lfs*93 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 130183 chr2 238969750 238969750 C T rs746359099 SCLY Nonsynonymous SNV P19S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.14 130184 chr2 48132711 48132711 T G rs781277953 FBXO11 Nonsynonymous SNV Q50P 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 11.77 130185 chr11 129827700 129827700 T A rs78900720 PRDM10 Nonsynonymous SNV T59S 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 Benign 23.1 130186 chr2 209103891 209103891 G C rs762126667 IDH1 Nonsynonymous SNV A353G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.392 130187 chr2 73518804 73518804 G T rs146026377 EGR4 Synonymous SNV I414I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.174 130188 chr2 73676920 73676920 C G rs556855697 ALMS1 Nonsynonymous SNV T1088R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 19.2 130189 chr2 209212638 209212638 C T rs140202936 PIKFYVE Synonymous SNV P1755P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 130190 chr2 210894563 210894563 A G rs533999838 KANSL1L Synonymous SNV N703N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.884 130191 chr22 39175616 39175616 G A rs373776976 DNAL4 Synonymous SNV S52S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.138 130192 chr2 242405109 242405109 G A rs190356373 FARP2 Synonymous SNV T638T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.274 130193 chr2 74274681 74274681 C T rs183678709 TET3 Nonsynonymous SNV T453I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 130194 chr2 74593928 74593928 T C rs1130484 DCTN1 Synonymous SNV A682A 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 Benign/Likely benign 0.511 130195 chr2 241928286 241928286 A G rs777946147 CROCC2 Nonsynonymous SNV Q1561R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 130196 chr2 74689671 74689671 G C rs34838944 MOGS Nonsynonymous SNV I415M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.148 130197 chr2 74699584 74699584 T C rs148007344 MRPL53 Nonsynonymous SNV T36A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.128 130198 chr2 74709256 74709256 G C rs139980577 CCDC142 Nonsynonymous SNV R237G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 130199 chr2 62067135 62067135 C T rs755314585 FAM161A Nonsynonymous SNV R335Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 130200 chr2 215843041 215843041 A G rs111356158 ABCA12 Synonymous SNV D1391D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.725 130201 chr2 215884432 215884432 C G rs113112835 ABCA12 Nonsynonymous SNV S141T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.373 130202 chr2 74719457 74719457 A G rs200969062 TTC31 Nonsynonymous SNV H349R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 130203 chr2 242066245 242066245 C G rs141882381 PASK Synonymous SNV S695S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 11.16 130204 chr2 74729890 74729890 G C rs144078336 LBX2 Nonsynonymous SNV R33G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.766 130205 chr2 74751283 74751283 G A rs34825856 DQX1 Nonsynonymous SNV P195S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 130206 chr2 64863943 64863943 G A rs78389198 SERTAD2 Synonymous SNV I21I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 130207 chr2 242757390 242757390 C T rs150410617 NEU4 Synonymous SNV F170F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 4.942 130208 chr2 219735868 219735868 G T WNT6 Nonsynonymous SNV R67L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 130209 chr13 32914471 32914471 A G rs773999877 BRCA2 Synonymous SNV L1993L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.759 130210 chr13 32914815 32914815 G A rs35029074 BRCA2 Nonsynonymous SNV R2108H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.2 130211 chr2 220333642 220333642 G A rs148131894 SPEG Synonymous SNV L1121L 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Benign 4.294 130212 chr2 87141006 87141006 C G rs548741541 RGPD2 Nonsynonymous SNV L12V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.854 130213 chr2 220406851 220406851 G A CHPF Synonymous SNV T125T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 130214 chr2 96799244 96799244 C T rs182757680 ASTL Synonymous SNV A125A 0.003 0 0.003 6 4 0 0.015 1 0 0 0 0 16.11 130215 chr2 97166344 97166344 A C rs778706480 NEURL3 Nonsynonymous SNV C116G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.65 130216 chr2 227662171 227662171 C T rs139864425 IRS1 Synonymous SNV S428S 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 1.097 130217 chr2 227872153 227872153 G A rs771066050 COL4A4 Nonsynonymous SNV T1654M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 130218 chr2 84926718 84926718 G T rs193184813 DNAH6 Nonsynonymous SNV V2560L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 21.9 130219 chr2 86305404 86305404 T C rs35239368 POLR1A Nonsynonymous SNV K364E 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 4.821 130220 chr2 86333375 86333375 C T rs13393659 PTCD3 Nonsynonymous SNV A2V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 130221 chr2 8870916 8870916 C T rs775392168 KIDINS220 Synonymous SNV P1694P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.821 130222 chr3 108719479 108719479 C T rs367836634 MORC1 Synonymous SNV K704K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.013 130223 chr2 26689599 26689599 G T rs147321712 OTOF Synonymous SNV R805R 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.22 130224 chr3 109031393 109031393 T A rs150889570 DPPA2 Synonymous SNV P60P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.003 130225 chr22 50885871 50885871 G A rs144773853 SBF1 Synonymous SNV Y1796Y 0.007 0.013 0.01 0 8 5 0 3 0 0 0 0 Benign 1.595 130226 chr16 1825376 1825376 C T rs139829498 EME2 Synonymous SNV A210A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.65 130227 chr13 97928615 97928615 T C rs36010428 MBNL2 Synonymous SNV S42S 0.009 0.013 0.003 6 11 5 0.015 1 0 0 0 1 0.098 130228 chr22 50989751 50989751 C T rs780609273 SYCE3 Nonsynonymous SNV D64N 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25.5 130229 chr2 234750564 234750564 A T rs748829771 HJURP Nonsynonymous SNV F203I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 130230 chr13 100637663 100637663 C T rs182192729 ZIC2 Synonymous SNV S442S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.969 130231 chr2 27527894 27527894 A C TRIM54 Nonsynonymous SNV Q194P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.4 130232 chr2 238243370 238243370 C T rs552651651 COL6A3 Nonsynonymous SNV R2436H 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 13.16 130233 chr2 238263551 238263551 G A rs201814201 COL6A3 Synonymous SNV P1599P 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Benign/Likely benign 11.74 130234 chr2 239007130 239007130 A T rs62196005 UBE2F-SCLY 0 0 0.075 0 0 0 0 22 0 0 7 0 0.365 130235 chr2 54562070 54562070 G A rs774467569 C2orf73 Nonsynonymous SNV R48H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 130236 chr2 103335366 103335366 C T rs139620122 MFSD9 Nonsynonymous SNV R252H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 35 130237 chr2 239134319 239134319 C A rs7558862 LINC02610 0 0 0.02 0 0 0 0 6 0 0 3 0 2.359 130238 chr16 3705871 3705871 G A rs755666660 DNASE1 Nonsynonymous SNV A57T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.34 130239 chr2 62066817 62066817 - G FAM161A Frameshift insertion H441Pfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 130240 chr2 64109608 64109608 C G rs773300249 UGP2 Synonymous SNV P77P 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 13.73 130241 chr2 241421656 241421656 C T rs116348675 ANKMY1 Synonymous SNV R633R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.517 130242 chr2 110015048 110015048 C A rs11885439 SH3RF3 Synonymous SNV L316L 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 15.21 130243 chr13 114060144 114060144 - C LOC101928841 Frameshift insertion S788Kfs*116 0.001 0 0 0 1 0 0 0 0 0 0 0 130244 chr13 114061576 114061576 G A rs371410226 LOC101928841 Nonsynonymous SNV P310L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.251 130245 chr2 241905690 241905690 C A rs115010054 CROCC2 Nonsynonymous SNV P1337Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.403 130246 chr13 114514819 114514819 G A rs139821544 TMEM255B Synonymous SNV P260P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.655 130247 chr3 113169213 113169213 G A rs148514023 SPICE1 Nonsynonymous SNV P765S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 130248 chr3 113765459 113765459 G T rs138852073 CCDC191 Nonsynonymous SNV H71N 0.011 0.005 0.02 0 13 2 0 6 0 0 0 0 25.4 130249 chr12 39751215 39751215 C G rs78616703 KIF21A Nonsynonymous SNV G414R 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign/Likely benign 32 130250 chr2 118575304 118575304 G A rs200312980 DDX18 Nonsynonymous SNV D124N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 25 130251 chr2 118705758 118705758 G A rs115155883 CCDC93 Synonymous SNV L383L 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 11 130252 chr12 43822482 43822482 A T ADAMTS20 Nonsynonymous SNV C1204S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.7 130253 chr12 46246052 46246052 C T rs143660736 ARID2 Synonymous SNV S1382S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 6.627 130254 chr3 126222857 126222857 G A rs372290750 UROC1 Nonsynonymous SNV R295C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 130255 chr3 120495353 120495353 C T rs116139067 GTF2E1 Nonsynonymous SNV S245F 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 32 130256 chr2 27157467 27157467 C T rs768879579 DPYSL5 Nonsynonymous SNV T271I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 130257 chr2 27307369 27307369 G C rs770450689 EMILIN1 Nonsynonymous SNV D843H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.8 130258 chr2 74746272 74746272 C T rs369639265 DQX1 Nonsynonymous SNV R631Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.5 130259 chr2 74757487 74757487 G A rs199735424 HTRA2 Synonymous SNV L118L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.734 130260 chr2 27460981 27460981 G A rs140521510 CAD Nonsynonymous SNV V1533M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.042 130261 chr3 128627842 128627842 C G rs923765951 ACAD9 Nonsynonymous SNV T462R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.557 130262 chr3 129289977 129289977 C T rs200890421 PLXND1 Nonsynonymous SNV R1169H 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 130263 chr2 75893111 75893111 T G rs17690300 GCFC2 Nonsynonymous SNV E555D 0.014 0.008 0.007 0 16 3 0 2 0 0 0 0 15.11 130264 chr2 29383218 29383218 A G rs35642516 CLIP4 Synonymous SNV T473T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.46 130265 chr2 75929513 75929513 C T rs41286007 GCFC2 Nonsynonymous SNV R144H 0.008 0.008 0.003 0 9 3 0 1 0 0 0 0 33 130266 chr2 96942978 96942978 C G rs75956769 SNRNP200 Nonsynonymous SNV G1978A 0.013 0.021 0.017 5 15 8 0.013 5 0 0 0 0 Benign 17.24 130267 chr2 86718296 86718296 T G rs61748136 KDM3A Synonymous SNV A1261A 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 9.06 130268 chr14 23939305 23939305 G A rs138567688 NGDN Nonsynonymous SNV E23K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 130269 chr3 1363362 1363362 T C rs371168661 CNTN6 Synonymous SNV L160L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.753 130270 chr12 53227968 53227968 C A KRT79 Nonsynonymous SNV G26V 0.007 0.005 0 0 8 2 0 0 0 0 0 0 21.8 130271 chr14 24658967 24658967 C T TM9SF1 Nonsynonymous SNV R405Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 130272 chr2 15496430 15496430 T C rs35489395 NBAS Nonsynonymous SNV T1310A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 3.127 130273 chr14 24877418 24877418 T A NYNRIN Nonsynonymous SNV L181Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 130274 chr13 32376501 32376501 A - rs780922371 RXFP2 Stop gain I719* 0.001 0 0 2 1 0 0.005 0 0 0 0 0 130275 chr14 25076402 25076402 T G rs139103808 GZMH Nonsynonymous SNV T184P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 130276 chr3 101476482 101476482 C T rs373222018 CEP97 Synonymous SNV P344P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.38 130277 chr3 11070434 11070434 G A rs199998696 SLC6A1 Synonymous SNV A186A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 15.44 130278 chr2 163139061 163139061 C T rs145520044 IFIH1 Nonsynonymous SNV R374H 0.008 0.005 0.01 0 9 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.18 130279 chr2 56420453 56420453 A G rs775228056 CCDC85A Nonsynonymous SNV K373R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 130280 chr14 34985685 34985685 C T rs149096582 EAPP Nonsynonymous SNV R230Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23 130281 chr2 61404845 61404852 CAGGGGGT - rs200589701 AHSA2P 0 0 0.017 0 0 0 0 5 0 0 0 0 130282 chr3 152554455 152554455 T C P2RY1 Nonsynonymous SNV M295T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.72 130283 chr3 111632422 111632422 G A rs200460122 PHLDB2 Nonsynonymous SNV S531N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 130284 chr2 95976119 95976119 C T rs149504046 KCNIP3 Nonsynonymous SNV S11L 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 21.2 130285 chr3 154010407 154010407 T C DHX36 Nonsynonymous SNV I569V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 130286 chr2 67637157 67637157 C T ETAA1 Nonsynonymous SNV T923I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 130287 chr3 113049216 113049216 T C rs145492370 CFAP44 Synonymous SNV G1305G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.156 130288 chr2 168106158 168106158 - A rs776630487 XIRP2 Frameshift insertion T2532Nfs*2 0.003 0.003 0 0 4 1 0 0 0 0 0 0 130289 chr3 113084927 113084927 T C rs142426658 CFAP44 Nonsynonymous SNV M892V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 130290 chr3 113323785 113323785 G T rs61732220 SIDT1 Nonsynonymous SNV A394S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 130291 chr3 157131751 157131751 C T rs138076442 VEPH1 Nonsynonymous SNV M275I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 130292 chr3 113955228 113955228 G - rs769407108 ZNF80 L232Sfs*46 0.001 0 0 2 1 0 0.005 0 0 0 0 0 130293 chr3 13672274 13672274 G A rs201224373 FBLN2 Nonsynonymous SNV R968H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 130294 chr2 71043762 71043762 T C rs62622841 CLEC4F Nonsynonymous SNV N251D 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 5.381 130295 chr2 71061091 71061091 C T rs115727537 CD207 Nonsynonymous SNV R84H 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 20.9 130296 chr3 164700064 164700064 A G SI Synonymous SNV N1794N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 130297 chr3 113376108 113376110 TGT - rs751686074 USF3 Q1478del 0.002 0 0 0 2 0 0 0 0 0 0 0 130298 chr3 142443521 142443521 G A rs373898841 TRPC1 Synonymous SNV V40V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.29 130299 chr2 74641622 74641622 A G rs139920523 C2orf81 Nonsynonymous SNV V466A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 7.562 130300 chr2 176794852 176794852 T A LNPK Nonsynonymous SNV N254I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.75 130301 chr2 179424159 179424159 G T rs727504793 TTN Nonsynonymous SNV N19835K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.97 130302 chr3 122103141 122103141 C T rs140995238 FAM162A Nonsynonymous SNV A10V 0.013 0.005 0.003 6 15 2 0.015 1 0 0 0 0 12.63 130303 chr3 119099786 119099786 G C rs150339878 ARHGAP31 Synonymous SNV L128L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 10.73 130304 chr14 55643848 55643848 A T DLGAP5 Synonymous SNV P327P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 130305 chr2 179596617 179596617 C T rs760089168 TTN Nonsynonymous SNV G4418D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.92 130306 chr3 119327661 119327661 C A rs756539203 PLA1A Nonsynonymous SNV T107N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.07 130307 chr2 86459845 86459845 A G REEP1 Nonsynonymous SNV L88P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.832 130308 chr3 121342057 121342057 C G rs34348750 FBXO40 Nonsynonymous SNV A594G 0.006 0 0.007 0 7 0 0 2 0 0 0 0 15.89 130309 chr13 92051357 92051357 T A rs372233104 GPC5 Synonymous SNV V19V 0 0 0 3 0 0 0.008 0 0 0 0 0 9.852 130310 chr2 179665202 179665202 G A TTN Nonsynonymous SNV P168L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.7 130311 chr3 183504086 183504086 A G rs942452753 YEATS2 Synonymous SNV Q970Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 5.004 130312 chr2 96930899 96930899 T C rs747804736 TMEM127 Nonsynonymous SNV Y74C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.45 130313 chr3 122420278 122420278 T C rs370997307 PARP14 Synonymous SNV L959L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.176 130314 chr14 64680970 64680970 A T SYNE2 Nonsynonymous SNV E6V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 130315 chr3 167277887 167277887 G A rs141496184 WDR49 Nonsynonymous SNV R206W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 130316 chr3 169835113 169835113 G A rs113169912 PHC3 Synonymous SNV P686P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.396 130317 chr3 169840512 169840512 C T rs770215996 PHC3 Synonymous SNV V591V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 130318 chr2 187702039 187702039 C T ZSWIM2 Nonsynonymous SNV C246Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.8 130319 chr14 68249938 68249938 G A rs763605079 ZFYVE26 Nonsynonymous SNV R1311C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 130320 chr13 111109419 111109419 G A COL4A2-AS2 Nonsynonymous SNV T218M 0 0.003 0 4 0 1 0.01 0 0 0 0 0 5.843 130321 chr2 191524394 191524394 C T rs2270232 NAB1 Synonymous SNV H164H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.934 130322 chr3 132279973 132279973 G T rs78134968 ACAD11 Nonsynonymous SNV T697N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 130323 chr3 132440672 132440672 C A rs990164169 NPHP3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 130324 chr2 198498566 198498566 A C rs143754556 RFTN2 Nonsynonymous SNV N198K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.67 130325 chr3 13363319 13363319 T C rs140077488 NUP210 Synonymous SNV S1644S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 130326 chr3 133654635 133654635 G A rs117837593 SLCO2A1 Synonymous SNV N599N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.087 130327 chr3 113377828 113377828 G A rs201301695 USF3 Nonsynonymous SNV H901Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 130328 chr2 202163995 202163995 G A rs781596416 FLACC1 Nonsynonymous SNV T303I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 10.45 130329 chr14 76447141 76447141 G A rs748977151 TGFB3 Synonymous SNV F32F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 7.572 130330 chr3 130150711 130150711 C T rs553758826 COL6A5 Nonsynonymous SNV T1884M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 130331 chr3 119526176 119526176 C T rs12721613 NR1I2 Nonsynonymous SNV P27S 0.003 0 0.01 0 3 0 0 3 0 0 0 0 0.77 130332 chr3 132411550 132411550 T G rs763361711 NPHP3 Nonsynonymous SNV K808T 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 10.81 130333 chr3 191098682 191098682 A G rs146511344 CCDC50 Synonymous SNV K225K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 2.279 130334 chr14 78184654 78184654 G C rs368327065 SNW1 Nonsynonymous SNV H490D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 130335 chr3 121994853 121994853 C T rs776534485 CASR Synonymous SNV N524N 0 0 0.003 0 0 0 0 1 0 0 0 0 15 130336 chr14 21553056 21553056 A G rs146061518 ARHGEF40 Nonsynonymous SNV M598V 0 0 0 5 0 0 0.013 0 0 0 0 0 0.001 130337 chr3 122419041 122419041 A G rs367886057 PARP14 Nonsynonymous SNV Q547R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 130338 chr3 122437545 122437545 A G PARP14 Nonsynonymous SNV K1516R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 130339 chr12 120741820 120741820 G A rs752917367 SIRT4 Synonymous SNV A152A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.898 130340 chr3 194325057 194325057 C T rs140191748 TMEM44 Nonsynonymous SNV G379S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 130341 chr3 129251434 129251434 G C rs765438313 RHO Nonsynonymous SNV R252P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Uncertain significance 33 130342 chr14 21968747 21968747 C T METTL3 Stop gain W398X 0.001 0 0 5 1 0 0.013 0 0 0 0 0 41 130343 chr14 21979345 21979345 A G rs753920277 METTL3 Synonymous SNV S7S 0.001 0 0 5 1 0 0.013 0 0 0 0 0 7.802 130344 chr3 33425543 33425543 T C rs146570080 FBXL2 Synonymous SNV C254C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.247 130345 chr3 19559513 19559513 C G KCNH8 Nonsynonymous SNV L856V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 130346 chr14 92170994 92170994 C T rs200112581 CATSPERB Nonsynonymous SNV S173N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 130347 chr3 132345646 132345646 T G ACAD11 Synonymous SNV V362V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.55 130348 chr3 125843294 125843294 C T rs141020864 ALDH1L1 Nonsynonymous SNV V500M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 130349 chr3 150690413 150690413 A C rs367559197 CLRN1 Nonsynonymous SNV L28W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 130350 chr3 126137567 126137567 C T rs143433382 CFAP100 Synonymous SNV F200F 0.003 0.01 0.007 2 4 4 0.005 2 0 0 0 0 10.36 130351 chr14 93170698 93170698 A G rs376864711 LGMN Nonsynonymous SNV L366S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 130352 chr3 126255166 126255166 C G rs147017058 CHST13 Nonsynonymous SNV S50R 0.008 0.016 0.02 3 9 6 0.008 6 0 0 0 0 22.7 130353 chr14 93649999 93649999 C T rs142325905 MOAP1 Nonsynonymous SNV V197M 0.006 0.003 0.01 4 7 1 0.01 3 0 0 0 0 25.8 130354 chr14 93652930 93652930 A G rs115343271 TMEM251 Nonsynonymous SNV I136V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.926 130355 chr14 94109922 94109922 A G rs78425468 UNC79 Nonsynonymous SNV I1837V 0.003 0 0 0 4 0 0 0 0 0 0 0 7.445 130356 chr16 89767615 89767615 T G SPATA2L Nonsynonymous SNV D9A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 130357 chr2 218669281 218669281 G A rs61740057 TNS1 Synonymous SNV N1682N 0.005 0.008 0 2 6 3 0.005 0 0 0 0 1 Benign 13.74 130358 chr3 138187558 138187558 C T rs201328888 ESYT3 Nonsynonymous SNV P457L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 32 130359 chr3 15711934 15711934 C T rs377170071 ANKRD28 Nonsynonymous SNV R848H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 130360 chr14 95884310 95884310 C T rs370007886 SYNE3 Synonymous SNV A922A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.5 130361 chr3 33165919 33165919 T C rs146124454 CRTAP Nonsynonymous SNV V214A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 24.5 130362 chr14 96809531 96809531 G A rs79662280 ATG2B Synonymous SNV L223L 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 9.858 130363 chr14 96811041 96811042 AT - ATG2B H177Rfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 130364 chr12 132514357 132514357 G A rs770218371 EP400 Synonymous SNV E1831E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.451 130365 chr14 33290925 33290925 G A rs112534297 AKAP6 Nonsynonymous SNV M1302I 0.008 0.005 0.01 8 9 2 0.021 3 0 0 0 0 2.992 130366 chr12 132636296 132636296 C T rs780531667 NOC4L Synonymous SNV D416D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.901 130367 chr14 100813092 100813092 C T rs143639252 WARS1 Nonsynonymous SNV D232N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 130368 chr3 44285446 44285446 A G rs17076541 TOPAZ1 Nonsynonymous SNV Q483R 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 0.001 130369 chr3 44286384 44286384 A G rs17076545 TOPAZ1 Nonsynonymous SNV K796E 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 23.3 130370 chr3 44463302 44463302 A T rs112666989 C3orf86 Star tloss M1? 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 7.889 130371 chr14 42368152 42368152 C T LRFN5 Stop gain Q711X 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 44 130372 chr14 104145816 104145816 C T rs145448505 KLC1 Synonymous SNV D528D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 130373 chr13 21562992 21562992 G T rs367606968 LATS2 Synonymous SNV A309A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.214 130374 chr2 220421443 220421443 G A rs200543358 OBSL1 Nonsynonymous SNV P1357S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Uncertain significance 11.57 130375 chr13 23928866 23928866 C T rs149638449 SACS Nonsynonymous SNV A482T 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.49 130376 chr3 142720221 142720221 - GGACAACGA rs11282240 LOC100289361 0 0 0.027 0 0 0 0 8 0 0 4 0 130377 chr3 142985771 142985771 C T SLC9A9 Nonsynonymous SNV E571K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 130378 chr13 24871640 24871640 G A rs139258444 SPATA13 Nonsynonymous SNV R352H 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 34 130379 chr3 14922252 14922252 C T rs201768331 FGD5 Synonymous SNV Y907Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.22 130380 chr3 432482 432482 C T rs373196122 CHL1 Nonsynonymous SNV R857C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 130381 chr3 47452743 47452743 G A PTPN23 Nonsynonymous SNV R1026H 0.003 0 0 0 3 0 0 0 0 0 0 0 16.7 130382 chr3 47452847 47452847 G A PTPN23 Nonsynonymous SNV D1061N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 130383 chr3 183508729 183508729 C T YEATS2 Nonsynonymous SNV P1020S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 1.858 130384 chr15 24923122 24923124 CTC - NPAP1 P705del 0.001 0 0 0 1 0 0 0 0 0 0 0 130385 chr14 59835430 59835430 C T rs145721737 DAAM1 Synonymous SNV S1020S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.63 130386 chr3 49159602 49159602 C G LAMB2 Nonsynonymous SNV R1592P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 130387 chr14 60582075 60582075 G A rs140058457 PCNX4 Nonsynonymous SNV R184Q 0 0 0 2 0 0 0.005 0 0 0 0 0 22 130388 chr3 153840064 153840064 G A rs959517269 ARHGEF26 Nonsynonymous SNV G95R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.33 130389 chr3 153958173 153958173 A G rs199620969 ARHGEF26 Nonsynonymous SNV N702S 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 18.16 130390 chr3 183961346 183961346 G C rs773119890 ALG3 Synonymous SNV P287P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.637 130391 chr3 49688101 49688101 A G rs144296383 BSN Synonymous SNV L525L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.136 130392 chr3 159482629 159482629 A G rs760940160 IQCJ-SCHIP1, SCHIP1 Nonsynonymous SNV Q154R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.177 130393 chr3 49940156 49940156 A G rs143752852 MST1R Nonsynonymous SNV L296P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 130394 chr3 50329668 50329668 C T rs374075474 IFRD2 Nonsynonymous SNV G77D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 130395 chr14 64921592 64921592 C T rs371285981 MTHFD1 Nonsynonymous SNV T906M 0 0 0 2 0 0 0.005 0 0 0 0 0 28.2 130396 chr3 50380763 50380763 C T rs141261384 ZMYND10 Nonsynonymous SNV G162E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.002 130397 chr3 52172214 52172214 G A rs146976547 POC1A Nonsynonymous SNV R262W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 34 130398 chr3 172365794 172365794 G A rs141870427 NCEH1 Synonymous SNV T83T 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 Benign 2.1 130399 chr3 52240671 52240671 C T rs768155440 ALAS1 Nonsynonymous SNV R357C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 130400 chr3 179051810 179051810 A G rs150089782 ZNF639 Nonsynonymous SNV N353S 0.003 0.005 0.017 0 3 2 0 5 0 0 0 0 0.016 130401 chr3 47545919 47545919 G A rs183689517 ELP6 Nonsynonymous SNV A75V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 27.7 130402 chr3 179085343 179085343 T C rs61735185 MFN1 Synonymous SNV S290S 0.002 0.005 0.017 0 2 2 0 5 0 0 0 0 7.18 130403 chr3 179439202 179439202 C T rs75426377 USP13 Nonsynonymous SNV L305F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 130404 chr3 179525566 179525566 G A rs763216140 PEX5L Synonymous SNV S332S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 130405 chr15 40656725 40656725 G A rs531696813 DISP2 Nonsynonymous SNV D195N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 130406 chr3 184039286 184039286 G A rs151151194 EIF4G1 Nonsynonymous SNV R109H 0 0 0 2 0 0 0.005 0 0 0 0 0 7.627 130407 chr14 71444741 71444741 C T rs749599010 PCNX1 Nonsynonymous SNV R563C 0 0 0 2 0 0 0.005 0 0 0 0 0 27.1 130408 chr2 235950065 235950065 G A rs532208992 SH3BP4 Nonsynonymous SNV D218N 0.005 0.008 0 0 6 3 0 0 0 0 0 0 16.45 130409 chr14 73440879 73440879 G A rs146193175 ZFYVE1 Synonymous SNV D255D 0 0 0 4 0 0 0.01 0 0 0 0 0 2.808 130410 chr3 193272447 193272454 GTGTGTGT - ATP13A4-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 130411 chr3 196288246 196288246 G A rs140055649 WDR53 Nonsynonymous SNV T34M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 130412 chr2 238475232 238475232 G T rs183854918 PRLH Nonsynonymous SNV A6S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.3 130413 chr3 184020536 184020536 C T rs141945076 PSMD2 Synonymous SNV V181V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 130414 chr3 194118830 194118830 C T rs760595151 GP5 Nonsynonymous SNV G61D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.69 130415 chr3 49832463 49832463 C G rs772050771 CDHR4 Nonsynonymous SNV V368L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.703 130416 chr3 57613958 57613958 T C DENND6A Nonsynonymous SNV K604E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 130417 chr3 185213074 185213074 T C rs139370472 TMEM41A Synonymous SNV P101P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.319 130418 chr3 187419891 187419891 T C rs747103042 RTP2 Nonsynonymous SNV E9G 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 130419 chr2 241463358 241463358 C A rs36085481 ANKMY1 Synonymous SNV P273P 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 10.96 130420 chr14 76425539 76425539 T C rs373100223 TGFB3 Synonymous SNV K410K 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Likely benign 0.383 130421 chr3 32586496 32586496 A G rs34181332 DYNC1LI1 Nonsynonymous SNV M147T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.96 130422 chr14 77323782 77323782 G A rs2272590 LRRC74A Synonymous SNV R356R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.26 130423 chr14 77491814 77491814 G A rs778657493 IRF2BPL Synonymous SNV A774A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.225 130424 chr3 52324996 52324996 A G rs746534669 GLYCTK Nonsynonymous SNV H133R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.82 130425 chr3 196792163 196792163 C T rs78190191 DLG1 Nonsynonymous SNV R681Q 0.008 0.008 0.014 6 9 3 0.015 4 0 0 0 0 34 130426 chr3 74383925 74383925 A C CNTN3 Nonsynonymous SNV D543E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 130427 chr13 95816735 95816735 C T rs551340224 ABCC4 Nonsynonymous SNV R616H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 130428 chr2 242139591 242139591 G A rs150865579 ANO7 Nonsynonymous SNV V169I 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.136 130429 chr13 96638686 96638686 T G rs770256082 UGGT2 Nonsynonymous SNV D311A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 130430 chr2 242684213 242684213 G A rs370019282 D2HGDH Synonymous SNV S124S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 12.24 130431 chr14 91655448 91655448 G A rs12895348 DGLUCY Nonsynonymous SNV A377T 0.001 0 0 7 1 0 0.018 0 0 0 0 0 0.627 130432 chr3 194790454 194790454 G A rs114985471 XXYLT1 Nonsynonymous SNV P245L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.9 130433 chr2 24929829 24929829 T C rs766565729 NCOA1 Nonsynonymous SNV L497S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 22.8 130434 chr2 26203559 26203559 G A rs147174948 KIF3C Nonsynonymous SNV R410C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 28.1 130435 chr15 45814388 45814388 G A rs749975391 SLC30A4 Synonymous SNV S55S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 130436 chr14 93685055 93685055 G A rs147422567 UBR7 Nonsynonymous SNV G262S 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 10.35 130437 chr3 196664516 196664516 A G rs142462463 NCBP2 Synonymous SNV Y70Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.505 130438 chr3 196910565 196910565 C T rs777896488 DLG1 Nonsynonymous SNV G39S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 130439 chr3 69057594 69057594 T G EOGT Nonsynonymous SNV Y99S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 130440 chr3 38316170 38316170 C T rs146083340 SLC22A13 Synonymous SNV P186P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.5 130441 chr3 19938317 19938317 G A rs144867019 EFHB Synonymous SNV I529I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.46 130442 chr3 383734 383734 G A rs116736772 CHL1 Synonymous SNV Q216Q 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Benign 10.07 130443 chr3 72873600 72873603 CTGA - rs780303247 SHQ1 S233Rfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 130444 chr3 21447336 21447336 G A rs409974 VENTXP7 0 0 0.017 0 0 0 0 5 0 0 1 0 5.255 130445 chr2 27720442 27720442 A G rs8179206 GCKR Nonsynonymous SNV E77G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 19.1 130446 chr3 21447337 21447337 C A rs371532 VENTXP7 0 0 0.017 0 0 0 0 5 0 0 1 0 6.492 130447 chr3 39226223 39226223 C T XIRP1 Nonsynonymous SNV G255S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.81 130448 chr13 113508611 113508611 A G rs61740306 ATP11A Synonymous SNV A670A 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign 0.42 130449 chr13 113513709 113513709 C T rs150625424 ATP11A Synonymous SNV N890N 0.012 0.008 0.003 1 14 3 0.003 1 0 0 0 0 Likely benign 0.079 130450 chr14 100381035 100381035 - TAA EML1 0 0 0 2 0 0 0.005 0 0 0 0 0 130451 chr3 35785416 35785416 C T rs147476882 ARPP21 Nonsynonymous SNV A645V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 130452 chr3 36898047 36898047 C T TRANK1 Nonsynonymous SNV E1012K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 130453 chr2 29375602 29375602 A C rs140842469 CLIP4 Nonsynonymous SNV N358T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.035 130454 chr3 38307572 38307572 T C rs144753685 SLC22A13 Nonsynonymous SNV L74P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.13 130455 chr3 47452575 47452575 C T rs772081974 PTPN23 Nonsynonymous SNV P970L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.35 130456 chr4 103225569 103225569 G C rs147912552 SLC39A8 Nonsynonymous SNV P182A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Likely benign 10.93 130457 chr4 119951252 119951252 G A SYNPO2 Nonsynonymous SNV S441N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 130458 chr15 66030124 66030124 A G rs769104370 DENND4A Nonsynonymous SNV F321L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.4 130459 chr3 40529209 40529209 A G rs763507093 ZNF619 Nonsynonymous SNV N359S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.809 130460 chr14 105173869 105173874 CCCCAC - INF2 P427_P428del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 130461 chr15 66790048 66790048 G T rs373712138 SNAPC5 Nonsynonymous SNV L8M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 130462 chr4 122776713 122776713 A T rs750684046 BBS7 Nonsynonymous SNV S178T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 130463 chr4 108868556 108868556 G T rs142676629 CYP2U1 Nonsynonymous SNV R384I 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign/Likely benign 24 130464 chr15 68937516 68937516 A G rs199658404 CORO2B Synonymous SNV Q6Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.274 130465 chr4 125592731 125592731 C T rs138695266 ANKRD50 Synonymous SNV R388R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.03 130466 chr4 126240968 126240968 A T rs144768563 FAT4 Nonsynonymous SNV E1134D 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 Benign/Likely benign 12.1 130467 chr15 23891971 23891971 G A rs555920534 MAGEL2 Nonsynonymous SNV P307S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.74 130468 chr4 128627684 128627684 G A rs200105767 INTU Nonsynonymous SNV A611T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 130469 chr15 73409146 73409146 T C rs770312491 NEO1 Synonymous SNV T132T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.688 130470 chr3 45541955 45541955 C T rs752860163 LARS2 Synonymous SNV A548A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.39 130471 chr3 53764554 53764554 G A rs772915273 CACNA1D Synonymous SNV A769A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 130472 chr3 46003735 46003735 C T rs41289620 FYCO1 Nonsynonymous SNV R1140Q 0.003 0.005 0.007 5 3 2 0.013 2 0 0 0 1 Benign 35 130473 chr3 46007846 46007846 C T rs34801630 FYCO1 Nonsynonymous SNV E994K 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 1 Benign 33 130474 chr3 45814024 45814024 A G rs375971612 SLC6A20 Synonymous SNV N222N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.229 130475 chr3 46008983 46008983 G A rs149507450 FYCO1 Nonsynonymous SNV R615W 0.003 0.005 0.007 5 4 2 0.013 2 0 0 0 1 Benign 23.5 130476 chr2 54483229 54483229 C T rs201295084 TSPYL6 Synonymous SNV P20P 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 Benign 13.68 130477 chr2 55253465 55253465 G C RTN4 Synonymous SNV L384L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 130478 chr2 61006873 61006873 A G PAPOLG Nonsynonymous SNV T266A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 27.2 130479 chr4 146770595 146770595 G A rs777340783 ZNF827 Synonymous SNV I700I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 130480 chr4 148796175 148796175 C G rs142876032 ARHGAP10 Nonsynonymous SNV R236G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 130481 chr3 48501596 48501596 G C rs776950968 ATRIP Synonymous SNV L288L 0 0 0 5 0 0 0.013 0 0 0 0 1 5.429 130482 chr4 13543677 13543677 C G rs111283169 NKX3-2 Synonymous SNV P314P 0.005 0 0.014 1 6 0 0.003 4 0 0 0 0 Benign 17.72 130483 chr3 49135795 49135795 T C rs557972227 QARS Nonsynonymous SNV Y681C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 130484 chr4 155411676 155411676 C G rs745737670 DCHS2 Nonsynonymous SNV G278R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 25.5 130485 chr4 155487143 155487143 C T rs2227434 FGB Nonsynonymous SNV P100S 0.008 0.008 0.003 2 9 3 0.005 1 0 0 0 0 Likely benign 13.28 130486 chr3 49700606 49700606 G A rs756708076 BSN Nonsynonymous SNV R3672Q 0 0 0 5 0 0 0.013 0 0 0 0 1 22 130487 chr4 156273798 156273798 C T MAP9 Nonsynonymous SNV E591K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 22.8 130488 chr2 70900424 70900424 C T rs200714328 ADD2 Synonymous SNV P592P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 8.209 130489 chr4 147561935 147561935 G T rs201841354 POU4F2 Nonsynonymous SNV R402I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 130490 chr4 148589774 148589774 C G PRMT9 Nonsynonymous SNV C177S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.641 130491 chr15 41108163 41108163 T C rs34474407 PPP1R14D Nonsynonymous SNV Q162R 0 0 0 3 0 0 0.008 0 0 0 0 0 11.9 130492 chr2 71186150 71186150 C T rs727505222 ATP6V1B1 Nonsynonymous SNV R124W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 32 130493 chr3 9488920 9488920 G C rs768631076 SETD5 Nonsynonymous SNV V571L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 3.992 130494 chr2 71212380 71212380 C A rs61732288 ANKRD53 Synonymous SNV R515R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.85 130495 chr4 15005408 15005408 G A rs182583918 CPEB2 Nonsynonymous SNV A371T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 21.2 130496 chr3 50220451 50220451 C T SEMA3F Stop gain Q241X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 130497 chr4 164394416 164394416 G A rs530284952 TKTL2 Synonymous SNV G157G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 1.507 130498 chr3 51430821 51430821 - CCACCA rs782813193 RBM15B H670_E671insHH 0 0 0.003 0 0 0 0 1 0 0 0 0 130499 chr3 98250971 98250971 A G rs201534903 GPR15 Nonsynonymous SNV T32A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 130500 chr2 71838641 71838641 A G rs139529811 DYSF Nonsynonymous SNV N1337S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 130501 chr3 98251211 98251211 A G rs35320046 GPR15 Nonsynonymous SNV M112V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 130502 chr4 154709741 154709741 C T rs772075948 SFRP2 Nonsynonymous SNV V83I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 130503 chr3 98538112 98538112 C T rs200822370 DCBLD2 Nonsynonymous SNV A341T 0.003 0 0.007 4 3 0 0.01 2 0 0 0 0 24.6 130504 chr4 100229017 100229017 G A rs2066702 ADH1B Nonsynonymous SNV R370C 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 protective 30 130505 chr4 1719313 1719313 C T rs374359483 TMEM129 Nonsynonymous SNV G257D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 130506 chr4 155505374 155505376 AAG - rs759551815 FGA P834_Y835delinsH 0.001 0 0 0 1 0 0 0 0 0 0 0 130507 chr3 52977431 52977431 T C rs79656631 SFMBT1 Nonsynonymous SNV K101R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 130508 chr4 102993543 102993543 C T rs35484557 BANK1 Nonsynonymous SNV H629Y 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 10.55 130509 chr15 42858891 42858891 C T rs1044866 HAUS2 Synonymous SNV N164N 0.004 0.01 0 6 5 4 0.015 0 0 0 0 0 9.275 130510 chr15 43018518 43018518 C T rs61746356 CDAN1 Nonsynonymous SNV R1065Q 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Likely benign 11.52 130511 chr15 43044259 43044259 G A rs55833708 TTBK2 Nonsynonymous SNV T1062I 0.004 0.013 0 6 5 5 0.015 0 0 0 0 0 Benign 19.1 130512 chr3 54156762 54156762 C A CACNA2D3 Nonsynonymous SNV R8S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.3 130513 chr15 43658311 43658311 C T rs145808054 ZSCAN29 Nonsynonymous SNV G407S 0.008 0.013 0 6 9 5 0.015 0 0 0 0 0 6.851 130514 chr4 15780177 15780177 G T CD38 Nonsynonymous SNV R47L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.666 130515 chr15 43720315 43720315 G A rs752274598 TP53BP1 Nonsynonymous SNV R1243C 0 0 0 3 0 0 0.008 0 0 0 0 0 35 130516 chr15 44109446 44109446 T G rs11556438 MFAP1 Nonsynonymous SNV S94R 0 0 0 3 0 0 0.008 0 0 0 0 0 21 130517 chr2 86718360 86718360 C T rs61750310 KDM3A Synonymous SNV L1283L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 9.888 130518 chr15 52258211 52258211 C T LEO1 Synonymous SNV E183E 0 0 0 3 0 0 0.008 0 0 0 0 0 12.81 130519 chr3 74350924 74350924 C A CNTN3 Nonsynonymous SNV D607Y 0 0 0.003 0 0 0 0 1 0 0 0 0 34 130520 chr4 171009629 171009629 C T rs772428576 AADAT Nonsynonymous SNV V52I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.486 130521 chr15 54306506 54306506 C T rs554429063 UNC13C Nonsynonymous SNV S469F 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 24 130522 chr2 99778529 99778529 A G rs151267116 LIPT1 Nonsynonymous SNV I37V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.001 130523 chr4 187541602 187541602 C T rs34855146 FAT1 Synonymous SNV A2046A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 7.778 130524 chr3 100275620 100275620 G A TMEM45A Synonymous SNV Q69Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.66 130525 chr3 97686270 97686270 C G RIOX2 Nonsynonymous SNV K56N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 130526 chr17 43107546 43107546 T G DCAKD Synonymous SNV G106G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 130527 chr17 43216496 43216496 G A ACBD4 Nonsynonymous SNV S253N 0.006 0.003 0 0 7 1 0 0 0 0 0 0 20.8 130528 chr4 184180817 184180817 G A rs770033352 WWC2 Nonsynonymous SNV E408K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 130529 chr3 99514253 99514253 G C rs765526507 COL8A1 Nonsynonymous SNV G503A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 130530 chr4 185310137 185310137 G A rs145867709 IRF2 Synonymous SNV P275P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.685 130531 chr15 60919563 60919563 C A RORA Nonsynonymous SNV G4V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 11.04 130532 chr3 9985774 9985774 A G rs779560355 CRELD1 Nonsynonymous SNV I413V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.845 130533 chr4 185683627 185683627 C T rs73874470 ACSL1 Synonymous SNV A490A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.03 130534 chr3 99908806 99908806 G A rs769489824 TMEM30CP 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 23 130535 chr4 185941715 185941715 C G HELT Nonsynonymous SNV A173G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.264 130536 chr15 63029160 63029160 G A rs2280279 TLN2 Nonsynonymous SNV A1148T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 0.118 130537 chr3 111898530 111898530 C G SLC9C1 Nonsynonymous SNV G875R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.22 130538 chr14 70039475 70039475 G T rs141336782 CCDC177 Nonsynonymous SNV R289S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 5.452 130539 chr4 100341739 100341739 C T rs143235779 ADH7 Nonsynonymous SNV G271D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.082 130540 chr4 186392827 186392827 C G LOC105377590, CCDC110 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 130541 chr4 186583316 186583316 T C rs766306193 SORBS2 Synonymous SNV A81A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.41 130542 chr15 65153755 65153755 C T rs772570561 PLEKHO2 Nonsynonymous SNV T105M 0.005 0 0 6 6 0 0.015 0 0 0 0 0 34 130543 chr16 450138 450138 - AG rs766566966 NME4 Frameshift insertion R158Dfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 130544 chr4 3449995 3449995 G A rs536514881 HGFAC Nonsynonymous SNV A593T 0.002 0 0 0 2 0 0 0 1 0 0 0 33 130545 chr16 450140 450140 C G rs28411877 NME4 Nonsynonymous SNV R158G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.072 130546 chr17 48191619 48191619 G A SAMD14 Nonsynonymous SNV P292S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 22.9 130547 chr16 450157 450157 C T NME4 Synonymous SNV V163V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.614 130548 chr3 9862346 9862346 G A rs34069366 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV D359N 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 34 130549 chr16 618179 618179 G A rs138167017 NHLRC4 Synonymous SNV T44T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.647 130550 chr4 138451539 138451539 G A rs373847652 PCDH18 Synonymous SNV D568D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.464 130551 chr4 139101928 139101928 A G rs146944326 SLC7A11 Nonsynonymous SNV I378T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 130552 chr16 681385 681385 C T rs145112727 WFIKKN1 Synonymous SNV D44D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 130553 chr4 103189119 103189119 G A rs138693103 SLC39A8 Synonymous SNV L253L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 130554 chr4 1985345 1985345 C T rs762789080 NELFA Synonymous SNV L460L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 130555 chr16 779062 779062 C T HAGHL Synonymous SNV R218R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 130556 chr16 815593 815593 G C rs115279916 MSLN Nonsynonymous SNV Q257H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.01 130557 chr16 836111 836111 G T rs112366818 RPUSD1 Nonsynonymous SNV P131T 0.001 0 0 6 1 0 0.015 0 0 0 0 0 1.452 130558 chr4 105412543 105412543 G A rs565628571 CXXC4 Synonymous SNV S139S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 130559 chr14 75412948 75412948 C T rs139576478 PGF Synonymous SNV R150R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.64 130560 chr16 840628 840628 T C rs61753373 CHTF18 Nonsynonymous SNV F286L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.9 130561 chr4 38916543 38916543 T C rs766612147 FAM114A1 Nonsynonymous SNV M58T 0.002 0 0 3 2 0 0.008 0 0 0 0 1 26.5 130562 chr4 106474090 106474090 C T rs1054558788 ARHGEF38 Synonymous SNV D56D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 130563 chr15 69696075 69696075 A C rs910519499 PAQR5 Nonsynonymous SNV I303L 0.003 0 0 5 4 0 0.013 0 0 0 0 0 0.002 130564 chr4 148564068 148564068 T C rs762123829 PRMT9 Nonsynonymous SNV K385R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 130565 chr15 70347595 70347595 G A rs200517303 TLE3 Synonymous SNV P387P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.55 130566 chr16 1128987 1128987 C T rs752514090 SSTR5 Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 130567 chr4 103537721 103537721 G T NFKB1 Synonymous SNV G959G 0 0 0 2 0 0 0.005 0 0 0 0 0 8.183 130568 chr4 109543131 109543131 A C RPL34 Nonsynonymous SNV T6P 0 0 0.01 0 0 0 0 3 0 0 0 0 27.7 130569 chr4 109543133 109543133 A C RPL34 Synonymous SNV T6T 0 0 0.01 0 0 0 0 3 0 0 0 0 0.687 130570 chr4 109543135 109543135 A C RPL34 Nonsynonymous SNV Y7S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 130571 chr16 1270595 1270595 G C CACNA1H Synonymous SNV P2215P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.31 130572 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 130573 chr16 1393409 1393409 C T BAIAP3 Synonymous SNV S391S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 130574 chr4 113353481 113353481 A G rs74911401 ALPK1 Synonymous SNV S848S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.119 130575 chr4 113507719 113507719 C G rs148965225 ZGRF1 Synonymous SNV L1208L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.388 130576 chr4 15538666 15538666 G A rs376746356 CC2D2A Synonymous SNV S577S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.581 130577 chr16 1570761 1570761 C T rs780721001 IFT140 Nonsynonymous SNV E1168K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 130578 chr16 1891843 1891843 T G rs138046004 MEIOB Nonsynonymous SNV T338P 0.006 0.008 0 0 7 3 0 0 0 0 0 0 11.38 130579 chr4 122687132 122687132 - C rs138697319 PP12613 0 0 0.02 0 0 0 0 6 0 0 0 0 130580 chr4 122770068 122770068 C T rs200770952 BBS7 Nonsynonymous SNV V289I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.08 130581 chr4 55956147 55956147 A G KDR Synonymous SNV D1056D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.281 130582 chr15 85147290 85147290 T C rs564586352 ZSCAN2 Synonymous SNV A44A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.934 130583 chr14 96800146 96800146 G A rs377727532 ATG2B Synonymous SNV D362D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.572 130584 chr4 57266977 57266977 C T rs149024503 PPAT Synonymous SNV T329T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17 130585 chr4 140393848 140393848 A G rs189262252 RAB33B Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.78 130586 chr4 140640981 140640981 C T MAML3 Nonsynonymous SNV M971I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 130587 chr4 52917885 52917885 G A rs752654644 SPATA18 Synonymous SNV L5L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.578 130588 chr4 186366671 186366671 A G rs75681457 CCDC110 Synonymous SNV T792T 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.085 130589 chr3 131220428 131220428 C T rs151331067 MRPL3 Nonsynonymous SNV S75N 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 130590 chr4 187003729 187003729 C G rs35311343 TLR3 Nonsynonymous SNV L297V 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Likely benign 23.3 130591 chr4 146071731 146071731 C A rs148857745 OTUD4 Nonsynonymous SNV G333V 0.001 0.005 0 8 1 2 0.021 0 0 0 0 0 Uncertain significance 26.3 130592 chr4 159782815 159782815 C G FNIP2 Nonsynonymous SNV T97S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 27.6 130593 chr14 104643745 104643745 C A rs148588580 KIF26A Synonymous SNV A1540A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 130594 chr16 5080437 5080437 C T rs375819673 NAGPA Nonsynonymous SNV R247Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.1 130595 chr16 5083361 5083361 A G rs189630368 NAGPA Nonsynonymous SNV V152A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.4 130596 chr4 154255999 154255999 A G rs201921014 TRIM2 Nonsynonymous SNV I706V 0.009 0.01 0 8 10 4 0.021 0 0 0 0 0 Uncertain significance 12.39 130597 chr4 15964408 15964408 G T rs141225215 FGFBP2 Synonymous SNV S115S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.366 130598 chr3 13672833 13672833 C T rs371133206 FBLN2 Synonymous SNV I983I 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 14.7 130599 chr4 77231133 77231133 G A rs561957942 STBD1 Nonsynonymous SNV A353T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 130600 chr14 105964993 105964993 C T rs367868489 TEDC1 Nonsynonymous SNV R298W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 130601 chr4 25020801 25020801 G C rs367853394 LGI2 Nonsynonymous SNV S158C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 130602 chr4 25314532 25314532 C G rs200069247 ZCCHC4 Nonsynonymous SNV A34G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.903 130603 chr4 2986263 2986263 C T rs146194528 GRK4 Nonsynonymous SNV R26C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 130604 chr16 14738391 14738391 C A rs771251453 BFAR Nonsynonymous SNV A63E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.872 130605 chr4 30725496 30725496 G T rs148394191 PCDH7 Nonsynonymous SNV V818L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 130606 chr4 1806621 1806621 G T FGFR3 Nonsynonymous SNV G334V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 130607 chr15 94841879 94841879 G A rs765541293 MCTP2 Nonsynonymous SNV E129K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.032 130608 chr3 145809627 145809627 G C PLOD2 Nonsynonymous SNV T280S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.116 130609 chr3 147128844 147128844 C T rs144436691 ZIC1 Synonymous SNV R315R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 13.02 130610 chr4 3419252 3419252 C T rs61748737 RGS12 Synonymous SNV H267H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.146 130611 chr4 1808339 1808339 T C rs763282024 FGFR3 Nonsynonymous SNV C677R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.327 130612 chr4 174169359 174169359 A G rs148957464 GALNT7 Nonsynonymous SNV T119A 0 0 0 3 0 0 0.008 0 0 0 0 0 8.714 130613 chr3 154147380 154147380 A C rs202078143 GPR149 Nonsynonymous SNV S9A 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 9.732 130614 chr4 79697800 79697800 G A BMP2K Nonsynonymous SNV G35S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 130615 chr3 154886414 154886414 C T rs199578318 MME Synonymous SNV H638H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.69 130616 chr4 187111665 187111665 A C rs28465054 FLJ38576 0 0 0.014 0 0 0 0 4 0 0 2 0 3.66 130617 chr4 187111692 187111692 G A rs28545770 FLJ38576 0 0 0.048 0 0 0 0 14 0 0 7 0 0.426 130618 chr4 88258505 88258505 G A rs148948833 HSD17B11 Nonsynonymous SNV R276C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 130619 chr4 187532810 187532810 A T rs146471129 FAT1 Nonsynonymous SNV Y3195N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 130620 chr16 818456 818456 G A rs201466189 MSLN Synonymous SNV P566P 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 6.424 130621 chr16 28497756 28497756 G A rs753705869 CLN3 Synonymous SNV L97L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.764 130622 chr4 187628746 187628746 T C rs372906523 FAT1 Nonsynonymous SNV T746A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.3 130623 chr4 952231 952231 G C rs202204266 TMEM175 Nonsynonymous SNV A406P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.801 130624 chr15 41829197 41829197 C T RPAP1 Nonsynonymous SNV A43T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.946 130625 chr4 1961353 1961353 C T rs575615858 NSD2 Synonymous SNV P1047P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 130626 chr4 982725 982725 C T rs142262555 SLC26A1 Nonsynonymous SNV G668R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.856 130627 chr4 2941066 2941066 C T rs145832505 NOP14 Nonsynonymous SNV E775K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 130628 chr4 48548108 48548108 G C FRYL Nonsynonymous SNV T1752S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.309 130629 chr15 42276064 42276064 T A rs764140866 PLA2G4E Nonsynonymous SNV K832M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 27.7 130630 chr16 1435342 1435342 G A UNKL Synonymous SNV S377S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 15.5 130631 chr3 173322805 173322805 G C NLGN1 Nonsynonymous SNV L139F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.8 130632 chr16 30748960 30748960 - GAG rs749555838 SRCAP S2533_V2534insE 0.001 0 0 0 1 0 0 0 0 0 0 0 130633 chr15 43766943 43766943 G C TP53BP1 Nonsynonymous SNV P370A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 130634 chr4 89380540 89380540 A G rs75070724 HERC5 Nonsynonymous SNV D103G 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 17.91 130635 chr4 89397124 89397124 G C rs199767115 HERC5 Nonsynonymous SNV V509L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 130636 chr4 89576348 89576348 C T rs61755665 HERC3 Synonymous SNV G149G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.56 130637 chr16 2231274 2231274 G A rs753187811 CASKIN1 Nonsynonymous SNV R699W 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 25.3 130638 chr16 2264529 2264529 G A rs11546824 PGP Synonymous SNV L84L 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 0.092 130639 chr16 2264551 2264551 G A rs777825823 PGP Synonymous SNV A76A 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 3.463 130640 chr16 47117653 47117653 T C rs987850572 NETO2 Nonsynonymous SNV I346V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 130641 chr16 2505447 2505447 C G rs781781103 CCNF Synonymous SNV P281P 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 9.257 130642 chr4 38916631 38916631 T C rs4261994 FAM114A1 Synonymous SNV D87D 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 2.473 130643 chr4 39267749 39267749 G A rs16995209 WDR19 Nonsynonymous SNV G924S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 26.2 130644 chr4 39306504 39306504 C G rs2066792 RFC1 Synonymous SNV R654R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 6.64 130645 chr16 49660139 49660139 G A rs373620289 ZNF423 Synonymous SNV C1056C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.967 130646 chr4 40155820 40155820 A G rs772024668 N4BP2 Nonsynonymous SNV E1759G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 130647 chr16 55513483 55513483 C A MMP2 Nonsynonymous SNV P31Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 130648 chr3 186256716 186256716 C T rs114186269 CRYGS Synonymous SNV G102G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.9 130649 chr5 127641567 127641567 G A rs35346129 FBN2 Synonymous SNV R1832R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 130650 chr16 4845817 4845817 A G SMIM22 Nonsynonymous SNV T28A 0 0 0 4 0 0 0.01 0 0 0 0 0 0.388 130651 chr16 4935616 4935616 G A rs767821204 PPL Nonsynonymous SNV R1014W 0 0 0 4 0 0 0.01 0 0 0 0 0 23.9 130652 chr4 5624507 5624507 C T rs370964676 EVC2 Nonsynonymous SNV R673H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 130653 chr4 5642503 5642503 C T rs202093384 EVC2 Nonsynonymous SNV S323N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.7 130654 chr15 58834113 58834113 C T rs201014789 LIPC Nonsynonymous SNV R135C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 130655 chr3 19384151 19384151 A T KCNH8 Nonsynonymous SNV Y172F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.7 130656 chr4 57248729 57248729 C T rs373997347 AASDH Nonsynonymous SNV E89K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 130657 chr16 67183409 67183409 C T rs934844205 B3GNT9 Nonsynonymous SNV R327Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 130658 chr16 67320927 67320927 T C rs149855963 PLEKHG4 Nonsynonymous SNV C903R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.59 130659 chr16 67325284 67325284 G A rs188969016 KCTD19 Synonymous SNV I831I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.13 130660 chr16 67685700 67685700 C T rs546586729 CARMIL2 Nonsynonymous SNV P847L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 130661 chr18 28968881 28968881 G C rs76399598 DSG4 Nonsynonymous SNV R139S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 6.296 130662 chr16 67860149 67860149 G A rs767110484 TSNAXIP1 Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.605 130663 chr16 67876821 67876823 CAA - rs776944141 THAP11 Q132del 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 130664 chr16 67876840 67876854 AGCAGCAGCAGCAGT - rs774786259 THAP11 Q128_S133delinsP 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 130665 chr16 68009763 68009763 G A rs569305658 DPEP3 Nonsynonymous SNV R457W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 130666 chr5 122734960 122734960 C T rs527359023 CEP120 Nonsynonymous SNV G135E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 130667 chr4 77817260 77817260 G T rs778706081 SOWAHB Nonsynonymous SNV H581Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 130668 chr15 65491166 65491166 C T rs142684447 CILP Synonymous SNV T486T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.593 130669 chr5 127671232 127671232 G A rs2279582 FBN2 Synonymous SNV D1254D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 10.79 130670 chr5 127800515 127800515 A G rs117524265 FBN2 Nonsynonymous SNV I243T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 23.8 130671 chr4 6642843 6642843 C T rs146471805 MRFAP1 Nonsynonymous SNV P85L 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 130672 chr3 30664734 30664734 C G TGFBR2 Nonsynonymous SNV S46R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 130673 chr4 71510463 71510463 G A rs71599965 ENAM Nonsynonymous SNV S889N 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 130674 chr16 21262131 21262131 C G ANKS4B Nonsynonymous SNV T415S 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 19 130675 chr4 74447930 74447930 T C rs72649118 RASSF6 Nonsynonymous SNV I203M 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 22.7 130676 chr5 137680995 137680995 C T rs761716080 FAM53C Synonymous SNV C206C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.63 130677 chr16 77225412 77225412 G C MON1B Synonymous SNV P10P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 130678 chr4 8621227 8621227 G A rs141582324 CPZ Synonymous SNV T603T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.335 130679 chr5 140866656 140866656 C T rs888389135 PCDHGC4 Nonsynonymous SNV P639L 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 17.1 130680 chr4 79236779 79236779 C T rs17003124 FRAS1 Synonymous SNV P570P 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 6.548 130681 chr4 89608368 89608368 A G rs950610566 HERC3 Nonsynonymous SNV I741V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 130682 chr5 14397163 14397163 G T rs557039091 TRIO Synonymous SNV T1441T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 130683 chr16 28508375 28508375 A T APOBR Synonymous SNV S671S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.005 130684 chr4 81967270 81967270 G A rs750935828 BMP3 Nonsynonymous SNV R232K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 130685 chr18 60241662 60241662 A G ZCCHC2 Nonsynonymous SNV E783G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 130686 chr5 147030027 147030027 G C rs141607489 JAKMIP2 Synonymous SNV L195L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 6.741 130687 chr5 140263406 140263406 A G rs376667172 PCDHA13 Nonsynonymous SNV Y518C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 130688 chr5 140306488 140306488 G C rs369906778 PCDHAC1 Nonsynonymous SNV C4S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 130689 chr5 14751305 14751305 C T rs146886108 ANKH Nonsynonymous SNV R187Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 20.8 130690 chr5 147774423 147774423 C T rs753344233 FBXO38 Synonymous SNV D28D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 130691 chr3 43388922 43388922 C T rs56104180 SNRK Nonsynonymous SNV P185S 0.012 0.013 0.01 4 14 5 0.01 3 0 0 0 0 24.7 130692 chr5 141007494 141007494 A G rs146494634 HDAC3 Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 130693 chr16 31336689 31336689 G A rs770219096 ITGAM Synonymous SNV P823P 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 1.852 130694 chr5 149428195 149428195 C T rs368654902 HMGXB3 Nonsynonymous SNV R884W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 130695 chr16 87743098 87743098 G C KLHDC4 Nonsynonymous SNV S350W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 130696 chr5 112179707 112179707 C G rs587780608 APC Nonsynonymous SNV P2788A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 130697 chr4 89034502 89034502 G A rs560659849 ABCG2 Nonsynonymous SNV R383C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 130698 chr16 88580853 88580853 C T rs202013645 ZFPM1 Synonymous SNV L109L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 130699 chr5 115394491 115394491 G C rs191536495 ARL14EPL Nonsynonymous SNV E102D 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 9.908 130700 chr16 54953071 54953071 G A rs143939661 CRNDE Synonymous SNV C61C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.05 130701 chr5 150923389 150923389 C T rs370553564 FAT2 Synonymous SNV S2433S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.34 130702 chr16 88782508 88782508 G A rs551265517 PIEZO1 Synonymous SNV L2383L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.356 130703 chr3 47448830 47448830 G A rs201653035 PTPN23 Nonsynonymous SNV R173H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 130704 chr4 87666175 87666175 A G rs373514959 PTPN13 Synonymous SNV T848T 0.001 0 0 5 1 0 0.013 0 0 0 0 0 3.972 130705 chr3 48336217 48336217 T A rs140655741 NME6 Nonsynonymous SNV E90D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.61 130706 chr3 48628929 48628929 G A COL7A1 Nonsynonymous SNV T535I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.7 130707 chr3 49714419 49714420 TC - APEH L322Dfs*13 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 130708 chr16 89350802 89350802 T C rs371050776 ANKRD11 Synonymous SNV K716K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.03 130709 chr4 94750491 94750491 C G rs115524348 ATOH1 Nonsynonymous SNV D138E 0.012 0.01 0.007 3 14 4 0.008 2 0 0 0 0 Benign 14.56 130710 chr16 89986355 89986355 C T rs368714912 MC1R Nonsynonymous SNV P230L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.359 130711 chr15 91551164 91551164 A G rs778351669 VPS33B Nonsynonymous SNV L118S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 28.7 130712 chr3 51969223 51969223 C T rs144222078 RRP9 Nonsynonymous SNV A342T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 130713 chr16 66434805 66434805 G T rs150701187 CDH5 Nonsynonymous SNV V575L 0 0 0 4 0 0 0.01 0 0 0 0 0 26.8 130714 chr16 66950311 66950311 C T rs148291089 CDH16 Nonsynonymous SNV A51T 0 0 0 4 0 0 0.01 0 0 0 0 0 0.059 130715 chr17 489524 489524 G A rs138244894 VPS53 Synonymous SNV I404I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.5 130716 chr16 67709825 67709825 C T rs766991070 GFOD2 Nonsynonymous SNV V131M 0 0 0 4 0 0 0.01 0 0 0 0 0 21.9 130717 chr5 167630821 167630821 C T TENM2 Synonymous SNV I954I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 130718 chr5 114860722 114860722 G A rs17852534 FEM1C Synonymous SNV T379T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 8.17 130719 chr16 68309112 68309112 C G rs377188763 SLC7A6 Synonymous SNV P161P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.04 130720 chr5 127419932 127419955 GCGGCGGCGGCGGCGGCGGCGGCA - rs560532409 SLC12A2 A100_A107del 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 130721 chr16 70285400 70285400 C T rs200071202 EXOSC6 Nonsynonymous SNV R135H 0.002 0.003 0.007 8 2 1 0.021 2 0 0 0 0 25 130722 chr3 52821210 52821210 C T rs140154114 ITIH1 Nonsynonymous SNV P344L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.72 130723 chr16 71674411 71674411 C A MARVELD3 Nonsynonymous SNV N238K 0 0 0 4 0 0 0.01 0 0 0 0 0 24.6 130724 chr5 133477954 133477954 C T rs146505961 TCF7 Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 130725 chr5 176318078 176318078 A G HK3 Nonsynonymous SNV F125S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 130726 chr5 129520033 129520033 G T CHSY3 Nonsynonymous SNV A400S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.39 130727 chr5 135277141 135277141 - CACTGTACAAAC FBXL21P 0 0 0.003 0 0 0 0 1 0 0 0 0 130728 chr3 56716893 56716893 T C rs763048926 TASOR Nonsynonymous SNV I48V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 130729 chr16 240021 240021 C T rs561704484 LUC7L Nonsynonymous SNV R307Q 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 23.6 130730 chr5 169310407 169310407 C G rs149156890 INSYN2B Nonsynonymous SNV V166L 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 Benign 2.846 130731 chr16 418630 418630 C T rs143007789 MRPL28 Synonymous SNV P149P 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 10.79 130732 chr16 424250 424250 C T rs532266764 TMEM8A Nonsynonymous SNV V576I 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 26.7 130733 chr5 137347470 137347470 G A rs768013896 FAM13B Nonsynonymous SNV P61S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 130734 chr5 137488340 137488340 A G rs6883021 BRD8 Nonsynonymous SNV L896P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 27.4 130735 chr5 11397313 11397313 G A CTNND2 Nonsynonymous SNV P57S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 13.62 130736 chr5 137589531 137589531 G A rs114764339 GFRA3 Synonymous SNV C316C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.671 130737 chr5 171481657 171481657 C T rs148904335 STK10 Synonymous SNV L856L 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 14.89 130738 chr5 1322993 1322993 G A rs115028409 CLPTM1L Synonymous SNV N438N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.041 130739 chr5 137754711 137754711 C T rs114783842 KDM3B Nonsynonymous SNV P1169S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 130740 chr16 613936 613936 G A rs559972963 PRR35 Synonymous SNV P214P 0.003 0.016 0 2 4 6 0.005 0 0 0 0 0 0.02 130741 chr5 138715761 138715761 T C rs34521685 SLC23A1 Nonsynonymous SNV I218V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 130742 chr5 13885220 13885220 T G rs753696648 DNAH5 Nonsynonymous SNV E954A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 15.56 130743 chr5 135186140 135186140 C T rs201840759 SLC25A48 Synonymous SNV Y39Y 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 9.048 130744 chr5 176016061 176016061 C T rs1024163051 CDHR2 Synonymous SNV G962G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.48 130745 chr16 697833 697833 G A rs541715975 MCRIP2 Nonsynonymous SNV G35R 0.003 0.013 0 2 4 5 0.005 0 0 0 0 0 6.018 130746 chr5 176729417 176729417 G A rs149948949 RAB24 Synonymous SNV D138D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.838 130747 chr16 1245509 1245509 G C rs60593994 CACNA1H Nonsynonymous SNV Q163H 0.006 0.018 0.014 6 7 7 0.015 4 0 0 0 0 Benign 25.2 130748 chr3 69242891 69242891 G C rs115964883 FRMD4B Nonsynonymous SNV A541G 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 27.2 130749 chr5 176918902 176918902 G A rs1045183263 PDLIM7 Nonsynonymous SNV P102S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.828 130750 chr16 1250446 1250446 G A rs59650398 CACNA1H Nonsynonymous SNV A332T 0.014 0.029 0.034 9 17 11 0.023 10 0 0 0 0 Benign 4.977 130751 chr5 138730571 138730571 G A rs1053522819 PROB1 Nonsynonymous SNV A67V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.9 130752 chr3 8787298 8787298 C A rs201593267 CAV3 Synonymous SNV V67V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.51 130753 chr16 1411892 1411892 C A GNPTG Nonsynonymous SNV P85T 0.003 0.013 0 4 4 5 0.01 0 0 0 0 0 25.2 130754 chr17 4910568 4910568 A G rs142046798 KIF1C Nonsynonymous SNV K449R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25 130755 chr5 179305399 179305399 G A rs143930301 TBC1D9B Synonymous SNV H564H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.437 130756 chr17 5338269 5338269 T C rs539400878 C1QBP Nonsynonymous SNV N134S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 130757 chr5 140953563 140953563 - GGAGGAGGA DIAPH1 P611_L612insPPP 0 0 0.003 0 0 0 0 1 0 0 0 0 130758 chr3 9885196 9885196 C G RPUSD3 Nonsynonymous SNV R72P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.82 130759 chr3 99568791 99568791 T G rs200756899 FILIP1L Nonsynonymous SNV K337Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25 130760 chr17 6328929 6328929 C T rs143092701 AIPL1 Nonsynonymous SNV A273T 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.55 130761 chr16 87723707 87723707 G A JPH3 Nonsynonymous SNV V581M 0 0 0 3 0 0 0.008 0 0 0 0 0 0.187 130762 chr5 14601324 14601324 G T rs775873839 OTULINL Nonsynonymous SNV W76L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 130763 chr17 6902040 6902040 C T ALOX12 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 130764 chr5 141039456 141039456 G A rs760015763 ARAP3 Nonsynonymous SNV R1053W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 130765 chr5 37245835 37245835 A G rs912446274 CPLANE1 Nonsynonymous SNV I65T 0.003 0 0 0 4 0 0 0 0 0 0 0 14.67 130766 chr5 139751949 139751949 A G rs61730785 SLC4A9 Synonymous SNV P868P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.335 130767 chr5 139931739 139931739 G A rs141327120 SRA1 Nonsynonymous SNV P73L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.23 130768 chr5 150924094 150924094 T C rs79948184 FAT2 Synonymous SNV P2198P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.722 130769 chr5 150924433 150924433 T C rs35538192 FAT2 Synonymous SNV P2085P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.494 130770 chr5 33576810 33576810 G A rs147475707 ADAMTS12 Synonymous SNV S1022S 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 4.069 130771 chr5 150924527 150924527 C G rs34493925 FAT2 Nonsynonymous SNV G2054A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.68 130772 chr5 150925042 150925042 G C rs34791158 FAT2 Synonymous SNV V1882V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.026 130773 chr5 150925143 150925143 C T rs76037457 FAT2 Nonsynonymous SNV V1849I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.517 130774 chr5 140167175 140167175 T C rs61743801 PCDHA1 Nonsynonymous SNV S434P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.481 130775 chr5 150925681 150925681 G T rs35652220 FAT2 Synonymous SNV I1669I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.114 130776 chr5 140167520 140167520 G A rs61743799 PCDHA1 Nonsynonymous SNV V549M 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 26.3 130777 chr5 150930192 150930192 C T rs61743237 FAT2 Nonsynonymous SNV D1513N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.6 130778 chr5 150930360 150930360 C T rs61743236 FAT2 Nonsynonymous SNV V1457I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 20.7 130779 chr17 7320511 7320511 C T NLGN2 Nonsynonymous SNV P634L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 130780 chr5 140176247 140176247 G A PCDHA2 Synonymous SNV L566L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.532 130781 chr5 140176840 140176840 C T rs6858913 PCDHA2 Nonsynonymous SNV P764L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.51 130782 chr5 150932844 150932844 A G rs61743255 FAT2 Synonymous SNV D1350D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 1.441 130783 chr5 150932879 150932879 A G rs61743254 FAT2 Nonsynonymous SNV W1339R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.302 130784 chr5 140180964 140180964 C A rs7731327 PCDHA3 Nonsynonymous SNV P61Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 26 130785 chr5 150932918 150932918 G A rs146280178 FAT2 Nonsynonymous SNV L1326F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 26.9 130786 chr5 150933984 150933984 A G rs35640822 FAT2 Nonsynonymous SNV L1295P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.652 130787 chr5 140201418 140201418 C T rs56285019 PCDHA5 Nonsynonymous SNV L20F 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.98 130788 chr5 140202418 140202418 C A rs61735511 PCDHA5 Nonsynonymous SNV T353N 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 21.9 130789 chr5 140202821 140202821 C G rs80008076 PCDHA5 Synonymous SNV A487A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 7.62 130790 chr5 140203139 140203139 G A rs60701400 PCDHA5 Synonymous SNV V593V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 4.968 130791 chr5 140248627 140248627 A G rs74567119 LOC112267934 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.58 130792 chr17 7704910 7704910 A G rs141017146 DNAH2 Nonsynonymous SNV Q2905R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 130793 chr5 140255731 140255731 C G rs75398909 PCDHA12 Nonsynonymous SNV S225C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 24 130794 chr5 140257289 140257289 C T rs116613760 PCDHA12 Synonymous SNV A744A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.47 130795 chr5 140307081 140307081 G A PCDHAC1 Nonsynonymous SNV V202M 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 130796 chr5 140502083 140502083 A G rs34350292 PCDHB4 Nonsynonymous SNV K168R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 5.12 130797 chr5 140589449 140589449 G A rs150186897 PCDHB12 Nonsynonymous SNV G324R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 130798 chr5 40958233 40958233 C A C7 Nonsynonymous SNV D453E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.2 130799 chr5 157243790 157243790 C G CLINT1 Nonsynonymous SNV W65C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 130800 chr5 140724205 140724205 G A PCDHGA3 Nonsynonymous SNV R202H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 130801 chr5 140773453 140773453 A G rs944974638 PCDHGA8 Nonsynonymous SNV E358G 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 130802 chr5 140773547 140773547 T C rs745601350 PCDHGA8 Synonymous SNV N389N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 130803 chr16 89970552 89970552 A G rs770261928 TCF25 Nonsynonymous SNV S470G 0 0 0 3 0 0 0.008 0 0 0 0 0 11.97 130804 chr5 54948505 54948505 A G rs200163470 SLC38A9 Synonymous SNV S205S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.905 130805 chr5 55147460 55147460 T C rs142089239 IL31RA Nonsynonymous SNV I21T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 130806 chr17 8393727 8393727 C T rs778805851 MYH10 Synonymous SNV A1574A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 130807 chr17 8396169 8396169 G A rs200165855 MYH10 Synonymous SNV D1430D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.058 130808 chr5 50685568 50685568 C T rs121913541 ISL1 Synonymous SNV N189N 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Benign 17.16 130809 chr4 122068316 122068316 T G rs75386686 TNIP3 Nonsynonymous SNV E208A 0.009 0.016 0.007 2 11 6 0.005 2 0 0 0 0 29.4 130810 chr5 148206570 148206570 C T ADRB2 Nonsynonymous SNV A59V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.8 130811 chr19 9006737 9006737 G A MUC16 Nonsynonymous SNV L13171F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 130812 chr19 9006738 9006738 T A MUC16 Synonymous SNV T13170T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.056 130813 chr19 9006762 9006763 GG - MUC16 T13162Rfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 130814 chr5 68463899 68463899 G T rs145759905 CCNB1 Nonsynonymous SNV M62I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.37 130815 chr19 9006764 9006764 T A MUC16 Nonsynonymous SNV T13162S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 130816 chr5 54424273 54424273 A G CDC20B Synonymous SNV V290V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.534 130817 chr19 9012894 9012894 - G MUC16 Frameshift insertion G12851Wfs*65 0.002 0 0.01 0 2 0 0 3 0 0 0 0 130818 chr19 9012898 9012898 G - MUC16 S12849Lfs*61 0.002 0 0.01 0 2 0 0 3 0 0 0 0 130819 chr17 11550421 11550421 G A rs146479561 DNAH9 Nonsynonymous SNV R668Q 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign 6.603 130820 chr16 8993517 8993517 T C USP7 Nonsynonymous SNV I787V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 130821 chr5 70813182 70813182 C G rs375048686 BDP1 Nonsynonymous SNV P1632A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.012 130822 chr5 167956907 167956907 G C rs369422554 FBLL1 Nonsynonymous SNV R133T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 23.1 130823 chr5 169309687 169309687 G A rs187220094 INSYN2B Nonsynonymous SNV R406W 0.007 0 0.007 2 8 0 0.005 2 0 0 0 0 24.9 130824 chr5 169695404 169695404 G A rs763246906 LCP2 Synonymous SNV A202A 0 0 0.007 0 0 0 0 2 0 0 0 0 5.479 130825 chr5 173317660 173317660 C G CPEB4 Synonymous SNV G308G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.495 130826 chr4 140651577 140651577 G A rs371095654 MAML3 Nonsynonymous SNV A775V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23 130827 chr17 17696393 17696393 G A rs149701833 RAI1 Nonsynonymous SNV R44Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.4 130828 chr17 3372577 3372577 C T rs748499500 SPATA22 Nonsynonymous SNV G15S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 27.5 130829 chr5 74981130 74981130 A G rs776606152 POC5 Nonsynonymous SNV S412P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 130830 chr5 178460611 178460611 T G ZNF879 Synonymous SNV S554S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.777 130831 chr5 171765823 171765823 T C rs758212931 SH3PXD2B Synonymous SNV P762P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.203 130832 chr5 17275901 17275901 G A rs971627344 BASP1 Synonymous SNV A192A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.77 130833 chr5 179290478 179290478 A C rs772596176 TBC1D9B Nonsynonymous SNV S1224R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.7 130834 chr17 21075510 21075510 G T rs761993168 DHRS7B 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 130835 chr5 176964962 176964962 C T rs184572415 FAM193B Synonymous SNV S200S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.95 130836 chr5 177673401 177673401 G A rs200782719 COL23A1 Synonymous SNV S450S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.08 130837 chr5 179251284 179251284 C T rs201263163 SQSTM1 Nonsynonymous SNV R212C 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 23.6 130838 chr5 32263316 32263316 C T rs61748194 MTMR12 Nonsynonymous SNV D206N 0.011 0.005 0.014 5 13 2 0.013 4 0 0 0 0 23 130839 chr5 74433822 74433822 A G ANKRD31 Synonymous SNV G1188G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 130840 chr16 22201470 22201470 T C SDR42E2 Nonsynonymous SNV V546A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.91 130841 chr5 179192341 179192341 A G rs146593514 MAML1 Synonymous SNV T110T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.004 130842 chr5 179192401 179192401 C T rs113715124 MAML1 Synonymous SNV Y130Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.79 130843 chr5 180477273 180477273 T C rs900463576 BTNL9 Nonsynonymous SNV S214P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 130844 chr5 163619 163619 G A rs114939243 PLEKHG4B Synonymous SNV S1144S 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 8.517 130845 chr16 23693394 23693394 G A rs532172121 PLK1 Synonymous SNV L244L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.79 130846 chr16 24580885 24580885 G A rs35016549 RBBP6 Synonymous SNV R924R 0.001 0.005 0.01 3 1 2 0.008 3 0 0 0 0 0.986 130847 chr5 31323053 31323053 G T CDH6 Nonsynonymous SNV A671S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 130848 chr5 180659794 180659794 G A rs936135686 TRIM41 Nonsynonymous SNV A349T 0.003 0 0 0 3 0 0 0 0 0 0 0 15.08 130849 chr5 37064849 37064849 G A rs868294395 NIPBL Nonsynonymous SNV R2757H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 130850 chr17 26943813 26943813 C T rs199533260 SPAG5-AS1 0.009 0.003 0.014 1 10 1 0.003 4 0 0 0 0 0.172 130851 chr5 38481703 38481703 G T rs3729751 LIFR Nonsynonymous SNV N1096K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 130852 chr5 38923273 38923273 G A rs142163960 OSMR Nonsynonymous SNV R596Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 130853 chr5 34829864 34829864 A C RAI14 Nonsynonymous SNV I914L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 130854 chr5 34936259 34936259 C T rs375475466 DNAJC21 Nonsynonymous SNV T109M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 130855 chr17 7320631 7320631 C T rs201972977 NLGN2 Nonsynonymous SNV T674M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 32 130856 chr4 177713430 177713430 A T rs772623279 VEGFC Synonymous SNV S12S 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 Benign 1.245 130857 chr16 30429304 30429304 G C rs74781964 ZNF771 Synonymous SNV L190L 0.009 0.003 0 1 11 1 0.003 0 0 0 0 0 9.159 130858 chr4 178256958 178256958 A T rs200055050 NEIL3 Nonsynonymous SNV D132V 0.013 0.013 0.003 2 15 5 0.005 1 0 0 0 0 26.4 130859 chr4 178256959 178256959 C G rs201212443 NEIL3 Nonsynonymous SNV D132E 0.013 0.013 0.003 2 15 5 0.005 1 0 0 0 0 15.01 130860 chr5 36038113 36038113 G C rs761947299 UGT3A2 Nonsynonymous SNV P327A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.1 130861 chr5 36686331 36686331 A G rs753745170 SLC1A3 Nonsynonymous SNV N418S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.93 130862 chr17 7750477 7750477 G A KDM6B Nonsynonymous SNV A322T 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 0.002 130863 chr5 37176061 37176061 C T rs34161326 CPLANE1 Synonymous SNV G1976G 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.665 130864 chr17 7951774 7951774 A G rs145203488 ALOX15B Nonsynonymous SNV Q567R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 21.7 130865 chr4 1807506 1807506 G A FGFR3 Nonsynonymous SNV A447T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 16.67 130866 chr5 37337963 37337963 T C rs147902256 NUP155 Nonsynonymous SNV N435S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.42 130867 chr5 52183777 52183777 A G ITGA1 Nonsynonymous SNV I302V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 130868 chr5 52402924 52402924 A C rs756200686 MOCS2 Nonsynonymous SNV S27R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.114 130869 chr6 107955663 107955663 A G rs146747167 SOBP Nonsynonymous SNV I539V 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 Benign 22.9 130870 chr16 52473628 52473628 G A TOX3 Nonsynonymous SNV P414S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.89 130871 chr6 108831415 108831415 C T AFG1L Nonsynonymous SNV P355S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.5 130872 chr6 109220944 109220944 G A rs6911885 ARMC2 Nonsynonymous SNV E101K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.02 130873 chr16 55361525 55361525 C T rs753795050 IRX6 Synonymous SNV A147A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 10.68 130874 chr17 37884073 37884073 A C rs763027953 ERBB2 Nonsynonymous SNV K1182Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 130875 chr17 38497607 38497607 G A rs755354465 RARA-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 130876 chr5 453579 453579 C T rs182038937 EXOC3 Synonymous SNV D153D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.08 130877 chr6 106991367 106991367 C T rs200123421 CRYBG1 Nonsynonymous SNV T1237I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.9 130878 chr5 55063749 55063749 A G rs570373422 DDX4 Synonymous SNV R26R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.084 130879 chr6 107391300 107391300 G A rs41292440 BEND3 Synonymous SNV P365P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.24 130880 chr17 15848588 15848588 T C rs753144286 ADORA2B Nonsynonymous SNV L9P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.5 130881 chr17 15902835 15902835 C T rs544159811 ZSWIM7 Nonsynonymous SNV R25Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Uncertain significance 21.2 130882 chr17 39122694 39122694 G A rs144576097 KRT39 Synonymous SNV L139L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.133 130883 chr4 23816139 23816139 C A rs180756790 PPARGC1A Nonsynonymous SNV V196L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.93 130884 chr6 116836995 116836995 C T rs200089126 CALHM5 Nonsynonymous SNV T258M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.5 130885 chr5 32089413 32089413 C T rs147328907 PDZD2 Synonymous SNV S1953S 0.005 0.003 0.014 6 6 1 0.015 4 0 0 0 0 9.35 130886 chr17 39182972 39182972 G A rs768530134 KRTAP1-5 Synonymous SNV L146L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.28 130887 chr6 117724427 117724427 G A rs549177200 ROS1 Nonsynonymous SNV P151L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.701 130888 chr16 67916939 67916939 C T rs144428519 EDC4 Synonymous SNV A1236A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.57 130889 chr4 3447042 3447042 C T rs142652510 HGFAC Nonsynonymous SNV A356V 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 20.8 130890 chr5 72377800 72377800 C T rs751475360 FCHO2 Nonsynonymous SNV P691L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 25.7 130891 chr16 68961576 68961576 C T rs61729744 TANGO6 Nonsynonymous SNV R745C 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 34 130892 chr16 69349997 69349997 G T VPS4A Synonymous SNV V36V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.99 130893 chr6 117121767 117121767 T G rs143716393 GPRC6A Nonsynonymous SNV N335H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.172 130894 chr17 39535269 39535269 G A rs199674249 KRT34 Nonsynonymous SNV R388C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 130895 chr6 117127724 117127724 T C rs140120868 GPRC6A Nonsynonymous SNV R382G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 130896 chr17 39553504 39553504 C T rs149521729 KRT31 Synonymous SNV E96E 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 1.434 130897 chr6 117249922 117249922 G C rs138343620 RFX6 Nonsynonymous SNV G800A 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 23.3 130898 chr5 74892973 74892973 A C rs185752953 POLK Nonsynonymous SNV N753H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 1.823 130899 chr5 37138863 37138863 A T rs770084934 CPLANE1 Nonsynonymous SNV S2863R 0 0 0 2 0 0 0.005 0 0 0 0 0 18.33 130900 chr5 76926599 76926599 G A rs538838140 OTP Synonymous SNV R156R 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 19.18 130901 chr17 39680145 39680145 A G rs778284613 KRT19 Synonymous SNV D351D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 130902 chr16 72174352 72174352 T A rs376937169 PMFBP1 Nonsynonymous SNV I256F 0.005 0.008 0 0 6 3 0 0 0 0 0 0 26 130903 chr4 4304749 4304749 G A rs114306264 ZBTB49 Nonsynonymous SNV A396T 0.011 0.018 0.024 8 13 7 0.021 7 0 0 1 1 Benign 8.009 130904 chr17 27238135 27238135 T C rs148347485 PHF12 Nonsynonymous SNV N737S 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 5.935 130905 chr5 82835887 82835887 C T rs727504214 VCAN Synonymous SNV I1368I 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.21 130906 chr17 27401161 27401161 G A rs529934460 TIAF1 Synonymous SNV D19D 0.001 0 0 4 1 0 0.01 0 0 0 0 0 2.261 130907 chr6 13599306 13599306 C T rs143357491 SIRT5 Synonymous SNV V202V 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 16.02 130908 chr6 136589431 136589431 C T rs150210620 BCLAF1 Nonsynonymous SNV A754T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.4 130909 chr5 79372768 79372768 C T rs150649229 THBS4 Synonymous SNV D570D 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 15.91 130910 chr6 136693770 136693770 G A rs201467716 MAP7 Nonsynonymous SNV R279C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.47 130911 chr6 13711697 13711702 TGCTGC - rs753944658 RANBP9 Q17_Q18del 0.001 0 0 0 1 0 0 0 0 0 0 0 130912 chr6 146755821 146755821 C A GRM1 Synonymous SNV G1158G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 130913 chr6 138417574 138417574 C G rs139550112 PERP Nonsynonymous SNV C91S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.88 130914 chr6 138582728 138582728 G A rs778561484 ARFGEF3 Nonsynonymous SNV R390K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 130915 chr4 56770514 56770514 G A rs1025315971 EXOC1 Synonymous SNV V831V 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 11.44 130916 chr6 143092757 143092757 G T rs755190455 HIVEP2 Nonsynonymous SNV P1040Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.41 130917 chr6 150387121 150387121 C T rs137927077 ULBP3 Nonsynonymous SNV G89E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 130918 chr6 144779958 144779958 A G rs34481184 UTRN Synonymous SNV E779E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.501 130919 chr6 144801010 144801010 C T rs34780332 UTRN Synonymous SNV D1133D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.08 130920 chr6 146126667 146126667 A G rs527514629 FBXO30 Nonsynonymous SNV I292T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.701 130921 chr17 36622855 36622855 C T rs535213162 ARHGAP23 Nonsynonymous SNV R311W 0.003 0 0 4 4 0 0.01 0 0 0 0 0 32 130922 chr6 100057173 100057173 C T rs367851194 PRDM13 Synonymous SNV H129H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.24 130923 chr6 100390896 100390896 C T rs140465249 MCHR2 Synonymous SNV S172S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.99 130924 chr6 157100008 157100008 A C rs112474841 ARID1B Synonymous SNV G315G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 0.037 130925 chr6 151672397 151672397 C G rs377313534 AKAP12 Nonsynonymous SNV N852K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.703 130926 chr5 81608457 81608457 G A rs112945656 ATP6AP1L Synonymous SNV L53L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.548 130927 chr4 71275588 71275588 T C rs76971467 OPRPN Synonymous SNV P181P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.024 130928 chr16 87380840 87380840 T C rs764259702 FBXO31 Synonymous SNV R143R 0.004 0.01 0 0 5 4 0 0 0 0 0 0 6.683 130929 chr5 865563 865563 C T rs73730995 BRD9 Synonymous SNV L500L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.75 130930 chr5 881238 881238 G A rs34850801 BRD9 Synonymous SNV A289A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.57 130931 chr5 884059 884059 G A rs35948803 BRD9 Synonymous SNV G267G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.349 130932 chr5 886744 886744 C T rs34292369 BRD9 Nonsynonymous SNV A213T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.75 130933 chr5 887533 887533 G C rs73733976 BRD9 Synonymous SNV T167T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.276 130934 chr17 39459007 39459007 A G KRTAP29-1 Nonsynonymous SNV C33R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.678 130935 chr17 54588021 54588021 C G rs996720759 ANKFN1 Nonsynonymous SNV D876E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 130936 chr6 119345373 119345373 A G FAM184A Synonymous SNV A135A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 130937 chr17 55184066 55184066 C G rs147545374 AKAP1 Nonsynonymous SNV P414R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.146 130938 chr6 117859894 117859894 G A rs956430115 DCBLD1 Nonsynonymous SNV R291Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 130939 chr17 56274592 56274592 C T rs577707337 EPX Nonsynonymous SNV S365L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 130940 chr6 117896454 117896454 A C GOPC Nonsynonymous SNV V171G 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 130941 chr6 16328191 16328191 G A rs749956529 ATXN1 Nonsynonymous SNV R108C 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 130942 chr6 131206405 131206405 G A rs76682195 EPB41L2 Nonsynonymous SNV P153L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.33 130943 chr4 81967610 81967610 G C rs61729826 BMP3 Nonsynonymous SNV K345N 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 19.66 130944 chr6 129775397 129775397 T C rs775847695 LAMA2 Nonsynonymous SNV I2224T 0 0 0.003 0 0 0 0 1 0 0 0 0 28 130945 chr4 8214480 8214480 C T rs756260540 SH3TC1 Synonymous SNV P24P 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.12 130946 chr6 132059233 132059233 A C rs36094194 ENPP3 Nonsynonymous SNV N744H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 130947 chr17 61622571 61622571 G T rs62077468 KCNH6 Synonymous SNV S843S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.058 130948 chr6 168709634 168709634 C T rs117046907 DACT2 Nonsynonymous SNV G98D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 130949 chr6 132910720 132910720 C A TAAR5 Nonsynonymous SNV V36F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.39 130950 chr4 8242644 8242644 G A rs753523688 SH3TC1 Nonsynonymous SNV G1249R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 11.33 130951 chr17 62121392 62121392 C T rs201214677 ERN1 Nonsynonymous SNV E964K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 130952 chr17 63156400 63156400 C G rs61739547 RGS9 Synonymous SNV P85P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 1.171 130953 chr17 63221584 63221584 G A rs544640448 RGS9 Synonymous SNV L621L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.097 130954 chr6 143081560 143081560 G A rs367677918 HIVEP2 Synonymous SNV H1955H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 4.46 130955 chr6 170002323 170002323 C T rs41265371 WDR27 Nonsynonymous SNV D615N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29.6 130956 chr6 146125604 146125604 C T rs751652205 FBXO30 Synonymous SNV V646V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.037 130957 chr17 44110493 44110493 T C rs773225592 KANSL1 Synonymous SNV A930A 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 5.743 130958 chr17 44952726 44952726 C T rs117972040 WNT9B Synonymous SNV G198G 0 0 0 5 0 0 0.013 0 0 0 0 0 12.69 130959 chr17 68129013 68129013 C T rs758056603 KCNJ16 Nonsynonymous SNV P297L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 130960 chr17 70120318 70120318 C T rs80338688 SOX9 Synonymous SNV Y440Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.25 130961 chr6 19838386 19838386 C T rs755277892 ID4 Nonsynonymous SNV A134V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 130962 chr4 89378666 89378666 C T rs748252354 HERC5 Synonymous SNV S82S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16 130963 chr6 149924448 149924448 T C rs372332577 KATNA1 Nonsynonymous SNV M229V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13 130964 chr4 91230443 91230443 A G rs748326746 CCSER1 Synonymous SNV S336S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.094 130965 chr6 148865771 148865771 A G rs61996300 SASH1 Synonymous SNV T816T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.114 130966 chr6 151672573 151672573 C T rs61757549 AKAP12 Nonsynonymous SNV T911I 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Likely benign 28.3 130967 chr17 72926633 72926633 G A rs376142747 OTOP2 Synonymous SNV V301V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 130968 chr6 153314023 153314023 G A rs141301101 MTRF1L Synonymous SNV D258D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 130969 chr6 154360853 154360853 G A rs201511978 OPRM1 Synonymous SNV L58L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.959 130970 chr17 73567801 73567801 G A rs148020757 LLGL2 Nonsynonymous SNV A744T 0.008 0 0.003 3 9 0 0.008 1 1 0 0 0 Benign 23.8 130971 chr6 109907142 109907142 T C rs1003940217 AK9 Nonsynonymous SNV Y659C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.002 130972 chr6 34059820 34059820 G A rs368672368 GRM4 Synonymous SNV Y123Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.006 130973 chr6 160482789 160482789 C T rs139338831 IGF2R Synonymous SNV S1137S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.39 130974 chr6 160482939 160482939 G A rs766762205 IGF2R Synonymous SNV T1187T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.19 130975 chr17 61622571 61622571 G A rs62077468 KCNH6 Synonymous SNV S843S 0.001 0 0.003 6 1 0 0.015 1 0 0 0 0 6.618 130976 chr17 5250088 5250088 A G rs749735839 RABEP1 Nonsynonymous SNV K175E 0 0.003 0 0 0 1 0 0 0 0 0 0 28 130977 chr6 36104468 36104468 C T rs115013068 MAPK13 Synonymous SNV A177A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 130978 chr6 160564624 160564624 C A rs373792571 SLC22A1 Nonsynonymous SNV T443N 0 0 0.003 0 0 0 0 1 0 0 0 0 26 130979 chr17 6329982 6329982 T G rs138585919 AIPL1 Nonsynonymous SNV Y183S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 130980 chr6 161582002 161582002 T C rs180694457 AGPAT4-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.321 130981 chr17 64881179 64881179 A G CACNG5 Nonsynonymous SNV Y217C 0 0 0 3 0 0 0.008 0 0 0 0 0 28.8 130982 chr6 165695149 165695149 T A C6orf118 Nonsynonymous SNV I446F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 130983 chr6 147049727 147049727 G A rs538897678 ADGB Synonymous SNV T790T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 130984 chr6 166401103 166401103 G A rs549317973 LINC00473, LINC00602 0 0 0.01 0 0 0 0 3 0 0 0 0 7.717 130985 chr6 36767826 36767826 C T rs148202375 CPNE5 Nonsynonymous SNV D69N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 130986 chr5 128887591 128887591 G A rs150064942 ADAMTS19 Nonsynonymous SNV D455N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.8 130987 chr17 76803237 76803237 G A rs143223744 USP36 Nonsynonymous SNV P630L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.09 130988 chr17 67081271 67081271 T G ABCA6 Nonsynonymous SNV Q1361P 0 0 0 3 0 0 0.008 0 0 0 0 0 28.1 130989 chr5 131923710 131923710 G A rs28903091 RAD50 Nonsynonymous SNV R327H 0.008 0.01 0.003 3 9 4 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 130990 chr6 167571030 167571030 C T rs146361438 GPR31 Nonsynonymous SNV S97N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.416 130991 chr17 70645012 70645012 C T rs141628946 SLC39A11 Nonsynonymous SNV A294T 0 0 0 5 0 0 0.013 0 0 0 0 0 34 130992 chr6 38903429 38903429 A G rs759193789 DNAH8 Nonsynonymous SNV K3623R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 28.5 130993 chr6 170190020 170190020 A T rs3807066 LINC00242 0 0 0.017 0 0 0 0 5 0 0 2 0 3.062 130994 chr17 78343325 78343325 G A rs761761703 RNF213 Nonsynonymous SNV R4060H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 130995 chr17 8006754 8006754 G T ALOXE3 Nonsynonymous SNV Q614K 0.004 0.008 0 0 5 3 0 0 0 0 0 0 21.8 130996 chr6 17849645 17849645 C A rs772954554 KIF13A Nonsynonymous SNV A265S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 130997 chr6 136682254 136682256 CTC - rs764573789 MAP7 E436del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 130998 chr6 43251608 43251608 C T rs146633224 TTBK1 Nonsynonymous SNV R1044C 0.002 0 0 0 2 0 0 0 0 0 0 0 18.9 130999 chr6 24798978 24798978 G A rs185060918 ARMH2 Synonymous SNV G36G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.693 131000 chr17 8790484 8790484 C T rs150470178 PIK3R5 Nonsynonymous SNV G226S 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 35 131001 chr17 73497583 73497583 C T rs140270094 CASKIN2 Nonsynonymous SNV A1080T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29.6 131002 chr6 25762226 25762226 - T rs754805517 SLC17A4 Stop gain D13* 0.002 0 0.003 0 2 0 0 1 0 0 0 0 131003 chr6 25762227 25762227 G T rs143424660 SLC17A4 Nonsynonymous SNV D13Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.11 131004 chr6 25762229 25762229 C A rs150942022 SLC17A4 Nonsynonymous SNV D13E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 131005 chr6 43655508 43655508 G A rs34855626 MRPS18A Synonymous SNV A3A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.782 131006 chr6 25972260 25972260 A G rs375296317 TRIM38 Nonsynonymous SNV N224S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 131007 chr17 73914030 73914030 G A rs199789116 FBF1 Nonsynonymous SNV R790C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 35 131008 chr17 74003592 74003592 G A rs765848119 EVPL Synonymous SNV N1920N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.125 131009 chr17 10398545 10398545 G A MYH1 Synonymous SNV R1753R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.358 131010 chr6 27420674 27420674 A G rs374618294 ZNF184 Nonsynonymous SNV C222R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 131011 chr6 2749622 2749622 C G rs115316828 MYLK4 Synonymous SNV L25L 0.005 0.01 0.014 1 6 4 0.003 4 0 1 0 0 2.015 131012 chr6 2768965 2768965 A G rs77289107 WRNIP1 Nonsynonymous SNV H288R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 12.12 131013 chr6 47624248 47624248 G A rs41273676 ADGRF2 Nonsynonymous SNV R9H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.218 131014 chr6 46424702 46424702 T G rs191756237 RCAN2 Nonsynonymous SNV E4D 0.006 0.003 0 0 7 1 0 0 0 0 0 0 5.243 131015 chr5 141511459 141511459 A C rs144224594 NDFIP1 Synonymous SNV A50A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.846 131016 chr17 19459316 19459316 G A rs149604973 SLC47A1 Nonsynonymous SNV G288S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.7 131017 chr6 34823474 34823474 T C rs201573577 UHRF1BP1 Nonsynonymous SNV W372R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.143 131018 chr6 56458836 56458836 A C rs16888032 DST Synonymous SNV T1494T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.004 131019 chr6 64288832 64288832 A G rs11547434 PTP4A1 Synonymous SNV P76P 0.007 0.01 0.01 3 8 4 0.008 3 0 0 0 0 9.249 131020 chr6 26017440 26017440 G A H1-1 Nonsynonymous SNV T174I 0.006 0.005 0 0 7 2 0 0 0 0 0 0 9.454 131021 chr6 36642504 36642504 C T rs186632616 PANDAR 0 0 0.003 0 0 0 0 1 0 0 0 0 7.724 131022 chr6 65301333 65301333 G T EYS Nonsynonymous SNV S1476Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 131023 chr6 41555541 41555541 G A rs963372971 FOXP4 Nonsynonymous SNV E295K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 131024 chr18 28588349 28588349 G A rs114245564 DSC3 Nonsynonymous SNV P469L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 33 131025 chr6 41738889 41738889 C T rs35744673 FRS3 Nonsynonymous SNV R316Q 0.011 0.01 0.014 8 13 4 0.021 4 0 0 0 0 34 131026 chr6 41889409 41889409 C A rs3763273 BYSL Synonymous SNV R37R 0.014 0.01 0.01 10 16 4 0.026 3 0 0 0 0 19.95 131027 chr19 52888079 52888079 - GTGAAAC rs754636078 ZNF880 Frameshift insertion A416Gfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 131028 chr6 74472111 74472111 A G rs753896488 CD109 Nonsynonymous SNV T178A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 131029 chr6 2836486 2836486 - A rs150564609 SERPINB1 0.003 0 0.003 0 3 0 0 1 0 0 0 0 131030 chr6 43155458 43155458 G C rs61739483 CUL9 Nonsynonymous SNV G530A 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 14.4 131031 chr6 43173907 43173907 C A rs147730044 CUL9 Synonymous SNV L1652L 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 17.02 131032 chr6 43173908 43173908 C G rs142418416 CUL9 Nonsynonymous SNV Q1653E 0.008 0.005 0.01 5 9 2 0.013 3 0 0 0 0 17.67 131033 chr6 43251298 43251298 C T rs55950221 TTBK1 Synonymous SNV N940N 0.009 0.008 0.01 2 11 3 0.005 3 0 0 0 0 Benign 10.69 131034 chr6 43422196 43422196 G A rs34764062 DLK2 Synonymous SNV S31S 0.009 0.005 0.01 2 10 2 0.005 3 0 0 0 0 11.98 131035 chr6 80720614 80720614 C T rs142356650 TTK Nonsynonymous SNV R185W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 131036 chr6 44116036 44116036 A C TMEM63B Nonsynonymous SNV E345D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.731 131037 chr18 5890848 5890848 C T TMEM200C Synonymous SNV P405P 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 14.39 131038 chr18 43535048 43535048 C T rs766983961 EPG5 Nonsynonymous SNV G107E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 131039 chr18 6032231 6032231 C A L3MBTL4 Nonsynonymous SNV E496D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.252 131040 chr18 6729901 6729901 G C rs565951929 ARHGAP28 Synonymous SNV S27S 0 0 0 4 0 0 0.01 0 0 0 0 0 13.91 131041 chr18 44585946 44585946 G A rs148023825 KATNAL2 Nonsynonymous SNV R46H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 7.256 131042 chr18 47093818 47093818 G A rs150879681 LIPG Nonsynonymous SNV G96S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.4 131043 chr17 35913247 35913247 T C SYNRG Nonsynonymous SNV T699A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 131044 chr17 35988667 35988667 T C rs776867242 DDX52 Nonsynonymous SNV H266R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22 131045 chr6 35438301 35438301 A G rs928994607 MIR7111 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.24 131046 chr6 46660160 46660160 A G rs139660386 TDRD6 Nonsynonymous SNV K1432R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.018 131047 chr6 97711241 97711241 T C rs201666595 MMS22L Synonymous SNV L21L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.336 131048 chr7 100086490 100086490 G A rs117099690 NYAP1 Synonymous SNV T382T 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Benign 9.664 131049 chr6 38050172 38050172 G A rs17649581 ZFAND3 Synonymous SNV G100G 0.012 0.01 0.024 3 14 4 0.008 7 0 0 0 0 10.45 131050 chr6 49913927 49913927 C A rs17664085 DEFB133 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 131051 chr6 53363725 53363725 G A rs138321238 GCLC Synonymous SNV I543I 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Likely benign 15.02 131052 chr5 176523707 176523707 T C rs151207425 FGFR4 Synonymous SNV H666H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.313 131053 chr18 21096330 21096330 C G rs146281079 RMC1 Nonsynonymous SNV A42G 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 17.64 131054 chr18 56204912 56204912 C A rs746869681 ALPK2 Nonsynonymous SNV C836F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 131055 chr18 29055636 29055636 G A rs201790264 DSG3 Nonsynonymous SNV D805N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.2 131056 chr18 65179472 65179472 G A rs145784280 DSEL Nonsynonymous SNV R792C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 131057 chr6 43322672 43322672 G C rs1054732815 ZNF318 Synonymous SNV S800S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.3 131058 chr6 43608209 43608209 C T rs150883030 MAD2L1BP Nonsynonymous SNV T255M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.705 131059 chr18 43247837 43247837 G A rs139711773 SLC14A2 Nonsynonymous SNV R586Q 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 33 131060 chr6 80020285 80020285 G T rs572416606 LCAL1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.594 131061 chr5 34923253 34923253 C T rs555526990 BRIX1 Nonsynonymous SNV R193W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.1 131062 chr6 85469998 85469998 C A rs201041948 TBX18 Nonsynonymous SNV V192L 0.007 0.01 0.01 4 8 4 0.01 3 0 0 0 0 Uncertain significance 27.3 131063 chr19 590402 590402 G A rs200870925 HCN2 Nonsynonymous SNV G153R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 131064 chr17 40270392 40270392 T C KAT2A Nonsynonymous SNV Y368C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 131065 chr6 88315731 88315731 A G rs141851921 ORC3 Nonsynonymous SNV D140G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.8 131066 chr6 90393785 90393785 A G rs934369730 LOC101929057 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.856 131067 chr6 90315771 90315771 C T ANKRD6 Stop gain Q122X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 131068 chr7 100282437 100282437 G A rs771328324 GIGYF1 Synonymous SNV G457G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.387 131069 chr7 100282438 100282438 C A rs74808434 GIGYF1 Nonsynonymous SNV G457V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.77 131070 chr5 41058215 41058215 A T rs770449392 MROH2B Nonsynonymous SNV W236R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.06 131071 chr7 106508536 106508536 G A rs774529326 PIK3CG Nonsynonymous SNV R177H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 131072 chr7 117396664 117396664 C G CTTNBP2 Nonsynonymous SNV S1080T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 131073 chr5 54420789 54420789 G T rs145386958 CDC20B Nonsynonymous SNV R353S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.515 131074 chr18 61449672 61449672 T C rs374010193 SERPINB7 Synonymous SNV N22N 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.216 131075 chr19 1221243 1221243 G A STK11 Nonsynonymous SNV E256K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 131076 chr6 52147661 52147661 T G rs368599297 MCM3 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.1 131077 chr7 126173755 126173755 T G rs61753364 GRM8 Synonymous SNV R356R 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 1.384 131078 chr6 55196539 55196539 T C GFRAL Nonsynonymous SNV Y17H 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.84 131079 chr6 74161854 74161854 G C rs757485304 CGAS Synonymous SNV A17A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.131 131080 chr18 72346701 72346701 T C rs146635665 ZNF407 Synonymous SNV G1242G 0.004 0.003 0.01 6 5 1 0.015 3 0 0 0 0 Benign 0.053 131081 chr18 74153252 74153252 C T rs190147651 ZNF516 Nonsynonymous SNV D587N 0.001 0.01 0 9 1 4 0.023 0 0 0 0 0 11.6 131082 chr7 130007349 130007349 C T rs376748288 CPA5 Synonymous SNV Y325Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.405 131083 chr7 133812220 133812220 G A rs112091184 LRGUK Nonsynonymous SNV A34T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.03 131084 chr19 2877283 2877283 G A rs111827534 ZNF556 Synonymous SNV R108R 0.003 0.008 0.014 1 4 3 0.003 4 0 0 0 0 3.493 131085 chr6 7889025 7889025 C T rs145951032 TXNDC5 Synonymous SNV S184S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.44 131086 chr17 56233444 56233444 - T rs140837404 OR4D1 *311L 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 131087 chr7 135307619 135307619 C T rs146766044 NUP205 Synonymous SNV A1117A 0.01 0 0.007 5 12 0 0.013 2 0 0 0 0 Benign 19.68 131088 chr7 102781936 102781936 G A rs577116050 RPL19P12 0 0 0.007 0 0 0 0 2 0 0 0 0 3.165 131089 chr7 102781962 102781962 A C RPL19P12 0 0 0.014 0 0 0 0 4 0 0 0 0 11.25 131090 chr7 102781980 102781980 T C rs879165987 RPL19P12 0 0 0.061 0 0 0 0 18 0 0 0 0 3.923 131091 chr7 107592607 107592607 G A rs34532909 LAMB1 Synonymous SNV C1047C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.89 131092 chr7 107601767 107601767 C T rs556735127 LAMB1 Nonsynonymous SNV V665I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 131093 chr7 108137937 108137937 A G rs762343631 PNPLA8 Synonymous SNV G481G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.977 131094 chr7 1097933 1097933 C T rs61731818 GPR146 Nonsynonymous SNV S261L 0.006 0 0.01 3 7 0 0.008 3 0 0 0 0 7.583 131095 chr5 7707918 7707918 C T rs34899441 ADCY2 Synonymous SNV H456H 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 18.15 131096 chr5 78350059 78350059 A G DMGDH Nonsynonymous SNV L163P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.2 131097 chr7 104753445 104753445 C T KMT2E Nonsynonymous SNV P1748S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 131098 chr5 78573837 78573837 C G rs756046634 JMY Synonymous SNV L379L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.32 131099 chr7 141490219 141490219 G A rs2234013 TAS2R5 Nonsynonymous SNV G20S 0.015 0.003 0.007 5 18 1 0.013 2 0 0 0 0 23.5 131100 chr7 107531719 107531719 C T rs778122189 DLD Synonymous SNV Y8Y 0.005 0 0 0 6 0 0 0 0 0 0 0 14.12 131101 chr19 1149406 1149406 G A rs184544671 SBNO2 Synonymous SNV F43F 0.005 0.003 0.01 4 6 1 0.01 3 0 0 0 0 5.481 131102 chr7 124481183 124481183 C T rs753851042 POT1 Nonsynonymous SNV A274T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 16.01 131103 chr17 67004011 67004011 G A rs150518027 ABCA9 Synonymous SNV I1108I 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 8.281 131104 chr7 127236394 127236394 G A rs144816822 FSCN3 Nonsynonymous SNV R285H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.291 131105 chr7 116411990 116411990 C T rs56391007 MET Nonsynonymous SNV T562I 0.011 0.008 0.007 1 13 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 131106 chr7 143748162 143748162 C G rs201829543 OR2A5 Nonsynonymous SNV A223G 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 0.004 131107 chr7 134694939 134694939 T C rs6958457 AGBL3 Nonsynonymous SNV S91P 0 0 0.007 0 0 0 0 2 0 0 1 0 2.302 131108 chr19 7593048 7593048 C T rs73003348 MCOLN1 Nonsynonymous SNV T261M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.76 131109 chr7 128034606 128034606 T C rs144498273 IMPDH1 Nonsynonymous SNV Q423R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.49 131110 chr19 7831618 7831618 G T rs759038160 CLEC4M Synonymous SNV R151R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 131111 chr7 128587078 128587078 T G rs746421090 IRF5 Nonsynonymous SNV L150R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 131112 chr7 129962352 129962352 G T CPA4 Nonsynonymous SNV D335Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28 131113 chr6 102266246 102266246 T C rs767556780 GRIK2 Nonsynonymous SNV I402T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23 131114 chr7 130067810 130067810 G A CEP41 Nonsynonymous SNV S28L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 131115 chr7 150778836 150778836 G A TMUB1 Nonsynonymous SNV P181S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.98 131116 chr7 150918744 150918744 C T rs569105816 ABCF2, LOC114483834 Nonsynonymous SNV V281I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 131117 chr7 154760753 154760753 T C PAXIP1 Synonymous SNV A386A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 131118 chr7 142723956 142723956 T A rs780799124 OR9A2 Synonymous SNV G88G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.52 131119 chr19 4556051 4556051 C G rs73527729 SEMA6B Synonymous SNV T140T 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 17.35 131120 chr19 4896874 4896874 C T ARRDC5 Nonsynonymous SNV A90T 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 24.9 131121 chr7 14758300 14758300 C T DGKB Nonsynonymous SNV M104I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 131122 chr7 158590647 158590647 C T rs748637139 ESYT2 Nonsynonymous SNV D165N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 131123 chr7 193703 193703 G T FAM20C Synonymous SNV P168P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.509 131124 chr7 148949817 148949817 G A rs141430858 ZNF212 Nonsynonymous SNV G188R 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 131125 chr7 148978728 148978728 C G rs766326958 ZNF783 Nonsynonymous SNV P312R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.505 131126 chr7 141362500 141362500 C G rs200809072 DENND11 Nonsynonymous SNV G442R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.8 131127 chr6 112575014 112575014 A G rs147118520 LAMA4 Synonymous SNV L113L 0.012 0.003 0.01 1 14 1 0.003 3 0 0 0 0 Benign 13.43 131128 chr7 150439838 150439838 T C rs72650695 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV L204P 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 23.7 131129 chr7 21827060 21827060 G C rs201944089 DNAH11 Nonsynonymous SNV E3261D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23 131130 chr19 6763709 6763709 G A rs757585464 SH2D3A Synonymous SNV H17H 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 9.475 131131 chr7 141860973 141860973 A G rs146039874 MGAM2 Synonymous SNV E798E 0.009 0.013 0.007 1 10 5 0.003 2 0 0 0 0 8.94 131132 chr7 150884575 150884575 G A ASB10 Nonsynonymous SNV R79W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 131133 chr6 117658363 117658363 G A rs148667396 ROS1 Synonymous SNV T1740T 0.007 0.01 0.01 2 8 4 0.005 3 0 0 0 0 Likely benign 11.03 131134 chr7 154587793 154587793 A G rs10236495 DPP6 Nonsynonymous SNV Q436R 0 0 0.007 0 0 0 0 2 0 0 1 0 2.398 131135 chr7 2583596 2583596 C T rs199745325 BRAT1 Nonsynonymous SNV G144D 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 25.7 131136 chr19 9074013 9074013 G A rs770297923 MUC16 Nonsynonymous SNV S4478F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.446 131137 chr6 121642787 121642787 T C TBC1D32 Synonymous SNV E103E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.232 131138 chr7 27213113 27213113 A G HOXA10 Synonymous SNV D271D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.475 131139 chr7 27213587 27213587 C G HOXA10 Synonymous SNV S113S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 131140 chr7 2748350 2748350 G A rs138304463 AMZ1 Nonsynonymous SNV G201S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22 131141 chr7 1574231 1574231 C A LOC100128653 0 0 0.003 0 0 0 0 1 0 0 0 0 8.004 131142 chr6 129618987 129618987 A G rs139244736 LAMA2 Nonsynonymous SNV N1005S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 6.563 131143 chr17 79633406 79633406 C A OXLD1 Nonsynonymous SNV A68S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.09 131144 chr19 10335009 10335009 C G S1PR2 Synonymous SNV V191V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.897 131145 chr7 30818128 30818128 A G rs200053449 MINDY4 Synonymous SNV R48R 0.003 0 0 0 3 0 0 0 0 0 0 0 8.703 131146 chr7 107596043 107596043 A G rs139487685 LAMB1 Nonsynonymous SNV I908T 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign 24.4 131147 chr7 30818142 30818142 T G rs201946407 MINDY4 Nonsynonymous SNV L53R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 131148 chr19 10738426 10738426 T A rs750651094 SLC44A2 Nonsynonymous SNV F37I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.25 131149 chr17 80042592 80042592 - CTA rs764277201 FASN E1521_D1522insV 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 131150 chr6 13615602 13615602 C G rs775772699 NOL7 Synonymous SNV L4L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.218 131151 chr7 24789347 24789347 T A rs750648073 GSDME Nonsynonymous SNV D16V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 131152 chr7 36616237 36616237 G A rs150438169 AOAH Nonsynonymous SNV R290C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 131153 chr7 11871429 11871429 C T rs768761903 THSD7A Synonymous SNV A48A 0 0 0 3 0 0 0.008 0 0 0 0 0 15.49 131154 chr7 128531588 128531588 C T KCP 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 131155 chr7 154143322 154143322 G A rs538182642 DPP6 Synonymous SNV P25P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.912 131156 chr17 81006596 81006596 T C rs200476683 B3GNTL1 Synonymous SNV Q42Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.036 131157 chr7 131815312 131815312 C T rs201799383 PLXNA4 Nonsynonymous SNV D1871N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 34 131158 chr7 2742363 2742363 C T rs149317306 AMZ1 Synonymous SNV S104S 0 0 0.014 3 0 0 0.008 4 0 0 0 0 9.716 131159 chr7 131817823 131817823 G T rs190064899 PLXNA4 Synonymous SNV G1858G 0.006 0.003 0 0 7 1 0 0 0 0 0 0 1.547 131160 chr6 147637412 147637412 G A rs368961081 STXBP5 Synonymous SNV P557P 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 10.97 131161 chr19 14165383 14165383 C T rs780643841 PALM3 Synonymous SNV E301E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.69 131162 chr7 30066072 30066072 A G rs140239991 FKBP14 Nonsynonymous SNV I18T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 131163 chr6 150174184 150174184 C T LRP11 Synonymous SNV Q242Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 20.3 131164 chr7 158434184 158434184 T C rs190109995 NCAPG2 Nonsynonymous SNV Y1148C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.584 131165 chr7 135292064 135292064 G C NUP205 Nonsynonymous SNV R689T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.4 131166 chr7 34867030 34867030 C T rs761476084 NPSR1 Nonsynonymous SNV L100F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.1 131167 chr19 10091529 10091529 G A rs145443545 COL5A3 Nonsynonymous SNV R838C 0 0 0 4 0 0 0.01 0 0 0 0 0 24.4 131168 chr19 15565226 15565226 G C rs12462462 RASAL3 Synonymous SNV L702L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.817 131169 chr7 36656001 36656001 C T rs3735387 AOAH Synonymous SNV A245A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.25 131170 chr7 37989978 37989978 A C rs77995880 EPDR1 Nonsynonymous SNV S158R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 131171 chr7 38725642 38725642 G C rs375485270 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 2.637 131172 chr7 39379463 39379463 C T rs150071017 POU6F2 Nonsynonymous SNV A274V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.15 131173 chr19 10568619 10568619 G A rs148157325 PDE4A Synonymous SNV P75P 0 0.003 0 4 0 1 0.01 0 0 0 0 0 5.211 131174 chr6 158094043 158094043 G A rs373273337 ZDHHC14 Synonymous SNV A452A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 12.48 131175 chr18 19029515 19029515 C T rs34656972 GREB1L Synonymous SNV L480L 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 11.34 131176 chr7 41739628 41739628 T C rs139451450 INHBA Synonymous SNV E115E 0.003 0.008 0.014 8 4 3 0.021 4 0 0 0 0 3.119 131177 chr19 16686864 16686864 T C rs143085065 MED26 Nonsynonymous SNV I593V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.536 131178 chr19 16799060 16799060 G A rs34995930 TMEM38A Nonsynonymous SNV D260N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 131179 chr7 44273995 44273995 G T rs751452921 CAMK2B Synonymous SNV A351A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 131180 chr7 141619376 141619376 G A rs375998461 OR9A4 Nonsynonymous SNV R234Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 14.44 131181 chr19 12986866 12986866 C A rs372056336 DNASE2 Nonsynonymous SNV V341L 0 0.003 0 4 0 1 0.01 0 0 0 0 0 26.2 131182 chr6 160105951 160105951 T C SOD2 Nonsynonymous SNV N114S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 14.55 131183 chr18 29447411 29447411 G A rs141629139 TRAPPC8 Nonsynonymous SNV A806V 0.01 0.008 0.007 3 12 3 0.008 2 0 0 0 0 22.8 131184 chr7 142962325 142962325 G A rs149801284 GSTK1 Nonsynonymous SNV R175H 0.008 0.018 0.01 3 9 7 0.008 3 0 0 0 0 0.43 131185 chr6 160221346 160221346 G A PNLDC1 Nonsynonymous SNV V3M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.52 131186 chr18 31319840 31319840 G A rs368115045 ASXL3 Synonymous SNV P824P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.066 131187 chr19 14038962 14038962 C T rs201620841 CC2D1A Nonsynonymous SNV A827V 0 0 0 3 0 0 0.008 0 0 0 0 0 22.8 131188 chr19 14196289 14196289 G T C19orf67 Nonsynonymous SNV P51T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 11.61 131189 chr7 64452650 64452650 C T rs62456477 ERV3-1 Nonsynonymous SNV R252Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.19 131190 chr19 14991881 14991881 C T rs139004201 OR7A17 Nonsynonymous SNV G96D 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 8.604 131191 chr18 44113279 44113279 C A rs748241810 LOXHD1 Nonsynonymous SNV E200D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 131192 chr19 15484727 15484727 C T rs138205008 AKAP8 Nonsynonymous SNV G81S 0 0.003 0 5 0 1 0.013 0 0 0 0 0 19.29 131193 chr19 15539054 15539054 G T rs554897536 WIZ Synonymous SNV P306P 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 13.96 131194 chr6 168944309 168944309 C T rs377651763 SMOC2 Synonymous SNV S156S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.57 131195 chr7 5540694 5540694 G A rs376373414 FBXL18 Synonymous SNV G402G 0 0 0.01 0 0 0 0 3 0 0 0 0 5.914 131196 chr7 8198181 8198181 C A ICA1 Nonsynonymous SNV L227F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 131197 chr7 6189373 6189373 C T rs61732169 USP42 Nonsynonymous SNV H516Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.3 131198 chr7 8009357 8009357 G A GLCCI1 Nonsynonymous SNV G126S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 131199 chr7 6205398 6205398 G C CYTH3 Synonymous SNV T122T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.997 131200 chr18 55222120 55222120 C T rs777810461 FECH Nonsynonymous SNV R257K 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 11.32 131201 chr18 55269713 55269713 G A rs35057487 NARS1 Synonymous SNV D463D 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Benign 11.75 131202 chr7 154746026 154746026 G A rs369427082 PAXIP1 Synonymous SNV V920V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.36 131203 chr7 6737383 6737383 C A ZNF12 Synonymous SNV L25L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 131204 chr7 88964031 88964031 A G rs140900637 ZNF804B Nonsynonymous SNV K579E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 131205 chr7 92123657 92123657 G A rs760620313 PEX1 Nonsynonymous SNV L937F 0.003 0 0 0 3 0 0 0 0 0 0 0 28.1 131206 chr7 73535523 73535523 C A rs76051496 LIMK1 Synonymous SNV A578A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.29 131207 chr7 157959937 157959937 G C rs199560003 PTPRN2 Nonsynonymous SNV T161R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.49 131208 chr7 1586660 1586660 - CCA rs747205009 TMEM184A G392_S393insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 131209 chr6 26017715 26017715 G A rs62000986 H1-1 Synonymous SNV R82R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.51 131210 chr6 26020729 26020729 T A rs762602280 H3C1 Synonymous SNV T4T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.796 131211 chr7 76024597 76024597 C A rs114180969 SSC4D Nonsynonymous SNV D307Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.042 131212 chr7 76030356 76030356 G A rs76436061 SSC4D Synonymous SNV S46S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 11.63 131213 chr19 33696690 33696690 C T rs571752445 LRP3 Synonymous SNV A338A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.73 131214 chr7 82582595 82582595 G A PCLO Synonymous SNV T2558T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.081 131215 chr7 932014 932014 G A rs144049723 GET4 Synonymous SNV P235P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 131216 chr6 33641487 33641487 C T rs146528103 ITPR3 Synonymous SNV F1016F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 15.34 131217 chr6 33693264 33693264 G T rs144789373 IP6K3 Nonsynonymous SNV A240E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.09 131218 chr19 18368581 18368581 G A rs759052814 IQCN Synonymous SNV R1171R 0 0 0 3 0 0 0.008 0 0 0 0 0 11.16 131219 chr19 35790493 35790493 C T rs144553163 MAG Nonsynonymous SNV A126V 0.01 0.01 0.003 5 12 4 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.44 131220 chr7 91726605 91726605 G T rs981017281 AKAP9 Nonsynonymous SNV Q3444H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 131221 chr8 103273481 103273481 G T UBR5 Nonsynonymous SNV L2616I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 131222 chr7 65705682 65705682 C T rs77211075 TPST1 Synonymous SNV D90D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.66 131223 chr7 98247095 98247095 A G rs761018488 NPTX2 Nonsynonymous SNV T108A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.002 131224 chr7 72848893 72848893 C T rs138414411 FZD9 Synonymous SNV L186L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 131225 chr7 72892439 72892439 G A BAZ1B Nonsynonymous SNV T451I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.749 131226 chr7 2748762 2748762 C T rs368696591 AMZ1 Nonsynonymous SNV P219S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.712 131227 chr8 101008701 101008701 C T rs181164225 RGS22 Nonsynonymous SNV G822R 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 22.9 131228 chr8 10396022 10396022 C G rs200500250 PRSS55 Nonsynonymous SNV P260A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 131229 chr7 73249307 73249307 C T rs74852682 METTL27 Synonymous SNV R168R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 131230 chr19 36673780 36673780 T C ZNF565 Nonsynonymous SNV Y298C 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 23.8 131231 chr7 2959063 2959063 C T rs41497250 CARD11 Nonsynonymous SNV R818Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.5 131232 chr7 73470651 73470651 G A ELN Nonsynonymous SNV A365T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 131233 chr19 30499996 30499996 G A rs142906381 URI1 Synonymous SNV A239A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 6.689 131234 chr7 76029658 76029658 G A rs769591656 SSC4D Synonymous SNV R140R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.855 131235 chr19 31768122 31768122 C T rs147790864 TSHZ3 Synonymous SNV T859T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 15.65 131236 chr19 964396 964396 G A rs777080552 ARID3A Synonymous SNV T305T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 16.08 131237 chr19 1005186 1005186 G A rs61740285 GRIN3B Synonymous SNV T562T 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 Benign 4.675 131238 chr8 124096454 124096454 G A rs146436284 TBC1D31 Synonymous SNV S26S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.497 131239 chr7 87135240 87135240 C A rs200294906 ABCB1 Synonymous SNV T1203T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 131240 chr19 1117493 1117493 G A rs562410936 SBNO2 Synonymous SNV A454A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 10.42 131241 chr8 125551451 125551451 C T rs147044660 NDUFB9 Synonymous SNV P8P 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 Benign 10.97 131242 chr19 36210817 36210817 G A rs756736566 KMT2B Nonsynonymous SNV V190M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.9 131243 chr7 44148524 44148524 C T AEBP1 Nonsynonymous SNV P323S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.95 131244 chr8 131796001 131796001 G A rs56260939 ADCY8 Synonymous SNV L1068L 0.01 0.018 0.014 4 12 7 0.01 4 0 0 0 0 12.19 131245 chr7 44558261 44558261 T C rs750811960 NPC1L1 Synonymous SNV T1047T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.024 131246 chr8 124453619 124453619 C T rs34477091 WDYHV1 Synonymous SNV S134S 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 13.4 131247 chr19 36637166 36637166 G T CAPNS1 Nonsynonymous SNV D113Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 31 131248 chr8 12612521 12612521 G A LONRF1 Nonsynonymous SNV P137S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 131249 chr7 4780533 4780533 G A rs544268560 FOXK1 Nonsynonymous SNV E209K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.23 131250 chr19 42343050 42343050 G A rs202011969 LYPD4 Nonsynonymous SNV A39V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 19.99 131251 chr19 42776512 42776512 A T rs547565552 CIC Nonsynonymous SNV T193S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.004 131252 chr19 42777573 42777573 C T rs189529121 CIC Synonymous SNV P546P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.001 131253 chr8 131308755 131308755 T - rs554026885 ASAP1-IT1 0 0 0.01 0 0 0 0 3 0 0 0 0 131254 chr19 43999466 43999466 T C rs200811514 PHLDB3 Nonsynonymous SNV N326S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 131255 chr7 48318521 48318521 A G rs776019354 ABCA13 Nonsynonymous SNV K2577R 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.24 131256 chr19 44055778 44055778 G A rs761204348 XRCC1 Nonsynonymous SNV R382C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 131257 chr7 4839380 4839380 G A rs369512689 RADIL Synonymous SNV P1001P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.488 131258 chr6 56035853 56035853 A T rs199532612 COL21A1 Nonsynonymous SNV D238E 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 15.47 131259 chr6 56484641 56484641 C T rs374733987 DST Synonymous SNV T1397T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.567 131260 chr7 50143911 50143911 T C SPATA48 Synonymous SNV G185G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 131261 chr7 63981900 63981983 CATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCATATGTTCAGTAAGGTTTGAGGACTGTATAAAAGCTTTGCCG - ZNF680 I388_F415del 0.001 0 0 5 1 0 0.013 0 0 0 0 0 131262 chr7 51096992 51096992 G A rs61737866 COBL Nonsynonymous SNV H601Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 131263 chr7 53103766 53103766 G T rs141746604 POM121L12 Nonsynonymous SNV W134C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.44 131264 chr8 142441127 142441127 C T rs145589058 PTP4A3 Nonsynonymous SNV R144W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29 131265 chr7 55565379 55565379 G C rs778225998 VOPP1 Nonsynonymous SNV R23G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 131266 chr7 55886841 55886841 A G rs368110863 SEPTIN14 Nonsynonymous SNV Y266H 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 27 131267 chr8 107705048 107705048 G A rs148616522 OXR1 Synonymous SNV E199E 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 8.187 131268 chr8 144512079 144512079 G C MAFA Nonsynonymous SNV F166L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 131269 chr19 45412493 45412493 A C rs28931579 APOE Nonsynonymous SNV S314R 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 12.62 131270 chr19 45818749 45818749 C T rs146705516 CKM Nonsynonymous SNV R152Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 131271 chr7 803535 803535 G T rs180946359 DNAAF5 Synonymous SNV R569R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign/Likely benign 1.633 131272 chr19 6417082 6417082 G A rs778512909 KHSRP Synonymous SNV P366P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.368 131273 chr8 120638883 120638883 G A ENPP2 Nonsynonymous SNV P72S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 131274 chr6 87970112 87970112 A T ZNF292 Synonymous SNV V2255V 0.009 0.01 0 1 10 4 0.003 0 1 0 0 0 0.807 131275 chr19 42402622 42402622 C T ARHGEF1 Nonsynonymous SNV R352W 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 27 131276 chr19 46663969 46663969 G A rs367624938 IGFL2 Nonsynonymous SNV V58M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 131277 chr19 42866254 42866254 G A rs138644598 MEGF8 Synonymous SNV G1844G 0 0 0 3 0 0 0.008 0 0 0 0 0 9.329 131278 chr19 42914765 42914765 G A rs34623222 LIPE Synonymous SNV N371N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Likely benign 1.506 131279 chr6 90605193 90605193 A G rs142024726 GJA10 Nonsynonymous SNV S336G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.363 131280 chr7 89884752 89884752 A G rs150000646 CFAP69 Nonsynonymous SNV M46V 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 0.002 131281 chr19 7673107 7673107 C T rs201177218 CAMSAP3 Synonymous SNV A239A 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 Benign 15.38 131282 chr7 91867026 91867028 TCT - rs778972394 KRIT1 K103del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 131283 chr6 99912556 99912556 C T rs367589353 USP45 Nonsynonymous SNV R353Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.482 131284 chr8 145641392 145641392 G A rs4355816 SLC39A4 Synonymous SNV Y67Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.351 131285 chr8 145641990 145641990 - CGGCC rs782434053 SLC39A4 Frameshift insertion C62Gfs*77 0 0 0.003 0 0 0 0 1 0 0 0 0 131286 chr8 145662319 145662319 C T rs774367982 TONSL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.732 131287 chr19 8551028 8551028 C T rs182619831 HNRNPM Synonymous SNV G437G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.77 131288 chr7 98636097 98636097 G A rs775370305 SMURF1 Synonymous SNV N534N 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.657 131289 chr7 98991711 98991711 T G rs151225927 ARPC1B Nonsynonymous SNV M350R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.6 131290 chr7 857109 857109 C G SUN1 Nonsynonymous SNV P6A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.031 131291 chr8 146017348 146017348 C T MIR6850 0 0 0.003 0 0 0 0 1 0 0 0 0 7.468 131292 chr8 134072466 134072466 G A rs772871302 SLA Synonymous SNV P20P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.551 131293 chr19 45206690 45206690 G A rs368522084 CEACAM16 Nonsynonymous SNV V37I 0 0.005 0 5 0 2 0.013 0 0 0 0 0 5.012 131294 chr8 145223240 145223240 C T rs139752012 MROH1 Nonsynonymous SNV P22L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.73 131295 chr8 134232983 134232983 C T rs139058011 CCN4 Nonsynonymous SNV P170L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.5 131296 chr7 88965325 88965325 A G rs141887526 ZNF804B Nonsynonymous SNV H1010R 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.014 131297 chr19 45648154 45648154 C G rs778715551 PPP1R37 Nonsynonymous SNV P344A 0 0.005 0 3 0 2 0.008 0 0 0 0 0 9.835 131298 chr19 45649138 45649138 G A PPP1R37 Synonymous SNV G608G 0 0 0 3 0 0 0.008 0 0 0 0 1 0.934 131299 chr19 45762269 45762269 G A rs143817847 MARK4 Nonsynonymous SNV R25H 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 27.1 131300 chrX 21896653 21896653 T A rs769376266 MBTPS2 Synonymous SNV T368T 0.003 0.005 0 0 4 2 0 0 1 1 0 0 7.089 131301 chr19 46137712 46137712 C T rs144104945 EML2 Nonsynonymous SNV R44Q 0.003 0 0.007 7 3 0 0.018 2 0 0 0 0 34 131302 chr7 94947700 94947700 C T rs551653548 PON1 Nonsynonymous SNV R27Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 131303 chr8 10467647 10467647 - CACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTC RP1L1 V1320_Q1321insELEETKTEEGLQEEGV 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 131304 chr19 50099218 50099218 G A rs143035740 PRR12 Synonymous SNV S542S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 5.301 131305 chr8 22476401 22476401 A C CCAR2 Nonsynonymous SNV E797D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.797 131306 chrX 47272965 47272965 G A rs147394827 ZNF157 Nonsynonymous SNV R498H 0.004 0.005 0 0 5 2 0 0 1 1 0 0 0.045 131307 chr8 144511975 144511995 TGGTGGTGGGCGGCGTGGTGA - rs760178305 MAFA A197_H203del 0.001 0 0 0 1 0 0 0 0 0 0 0 131308 chr19 48664732 48664732 G A rs41555118 LIG1 Nonsynonymous SNV S17F 0.005 0.003 0.003 7 6 1 0.018 1 0 0 0 0 Benign 22.7 131309 chr8 1830909 1830909 G A rs749096672 ARHGEF10 Nonsynonymous SNV A319T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.529 131310 chr8 103573024 103573031 GCCCCTGC - rs763278818 ODF1 S222Kfs*7 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 131311 chr8 103573033 103573042 ACCCGTGCAG - rs751927082 ODF1 N225Tfs*21 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 131312 chr8 103573086 103573086 T C rs11995900 ODF1 Nonsynonymous SNV F243L 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 23.9 131313 chr19 51010860 51010860 G A rs376400138 JOSD2 Synonymous SNV G81G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 131314 chrX 56259590 56259590 G C rs867575793 KLF8 0.005 0.005 0 0 6 2 0 0 1 1 0 0 2.373 131315 chr8 23428924 23428924 C G rs79810688 SLC25A37 Synonymous SNV T40T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.05 131316 chr8 27528464 27528464 G A rs147324406 SCARA3 Nonsynonymous SNV V473M 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 6.959 131317 chrX 69639923 69639923 G C KIF4A Nonsynonymous SNV E1169D 0.004 0.005 0 0 5 2 0 0 1 1 0 0 21 131318 chr8 25178523 25178523 C G rs140865121 DOCK5 Nonsynonymous SNV R524G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 131319 chrX 70356800 70356800 A C MED12 Synonymous SNV P1824P 0.003 0.005 0 0 3 2 0 0 0 1 0 0 0.003 131320 chrX 71886022 71886022 C T rs782091010 PHKA1 Synonymous SNV Q281Q 0.003 0.005 0 0 3 2 0 0 0 1 0 0 12.26 131321 chrX 73751364 73751364 C T rs199904356 SLC16A2 Synonymous SNV S532S 0.003 0.005 0 0 3 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 9.73 131322 chr8 124383912 124383912 A C rs147696973 ATAD2 Synonymous SNV T178T 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 11.56 131323 chr19 51845166 51845166 G A VSIG10L Stop gain Q46X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 131324 chr8 107754509 107754509 A G rs769358952 OXR1 Synonymous SNV G135G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.15 131325 chr8 113702191 113702191 C T rs146167541 CSMD3 Synonymous SNV R557R 0.003 0.008 0.003 5 4 3 0.013 1 0 0 0 0 Benign 11.54 131326 chr19 49983723 49983723 C G rs558442611 FLT3LG Nonsynonymous SNV P217R 0 0 0.007 3 0 0 0.008 2 0 0 0 0 23.8 131327 chr19 52443552 52443552 G A rs774240427 ZNF613 Nonsynonymous SNV V36M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 131328 chr19 50243375 50243375 C T TSKS Synonymous SNV L521L 0 0 0 3 0 0 0.008 0 0 0 0 0 13.96 131329 chr7 100680226 100680226 A T rs200687720 MUC17 Synonymous SNV T1843T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.002 131330 chr8 33371082 33371082 A G rs57302450 SNORD13 0 0 0.068 0 0 0 0 20 0 0 0 0 8.46 131331 chr8 37693193 37693193 G A rs776668118 ADGRA2 Nonsynonymous SNV R652H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 131332 chr8 39537626 39537626 A G rs35980210 ADAM18 Nonsynonymous SNV T544A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 0.143 131333 chr8 42403854 42403854 T C rs780925194 SMIM19 Nonsynonymous SNV S64P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 131334 chr19 11332551 11332551 A G rs200883815 DOCK6 Synonymous SNV L1176L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 1.497 131335 chr19 11546949 11546949 - GCT PRKCSH L9_P10insL 0.003 0.003 0 0 4 1 0 0 0 0 0 0 131336 chr8 28950309 28950309 C T rs17526980 KIF13B Nonsynonymous SNV V1471I 0.017 0.021 0.014 5 20 8 0.013 4 0 0 0 0 19.31 131337 chr19 11892255 11892255 G C rs146452126 ZNF441 Nonsynonymous SNV G539A 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 0.001 131338 chr8 56723574 56723574 G A TGS1 Nonsynonymous SNV V667M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 131339 chr8 17132441 17132441 A T rs17502618 VPS37A Nonsynonymous SNV I181F 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 Benign 17.78 131340 chr19 12936644 12936644 A C RTBDN Nonsynonymous SNV V189G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 131341 chr8 57294563 57294563 C T rs116227250 SDR16C6P 0 0 0.01 0 0 0 0 3 0 0 0 0 4.825 131342 chr8 61768641 61768641 T G rs886063040 CHD7 Synonymous SNV G2348G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.297 131343 chr8 143846004 143846004 G A rs367742297 SLURP2 Synonymous SNV R53R 0 0 0 2 0 0 0.005 0 0 0 0 0 3.557 131344 chr8 17843104 17843104 A G rs760570233 PCM1 Synonymous SNV R1364R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.53 131345 chr8 65494015 65494017 GCG - rs765079691 BHLHE22 G225del 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 131346 chr8 66443912 66443912 G A rs34155221 LINC01299 0 0 0.027 0 0 0 0 8 0 0 3 0 4.126 131347 chr8 66619295 66619295 C A MTFR1 Nonsynonymous SNV P157T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 24.5 131348 chr8 65494026 65494026 A G rs62519838 BHLHE22 Nonsynonymous SNV S227G 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.001 131349 chr8 66619303 66619303 G C MTFR1 Synonymous SNV P159P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.483 131350 chr8 65494029 65494029 A G rs760660842 BHLHE22 Nonsynonymous SNV S228G 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.004 131351 chr8 66619308 66619308 T A MTFR1 Nonsynonymous SNV L161Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.955 131352 chr8 133919047 133919047 G T rs114944116 TG Nonsynonymous SNV R1250L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.41 131353 chr8 67592262 67592262 A C rs766646120 C8orf44 0 0 0.007 0 0 0 0 2 0 0 0 0 13.38 131354 chr19 53854501 53854501 C G rs73057056 ZNF845 Nonsynonymous SNV N191K 0.009 0.01 0.007 5 11 4 0.013 2 0 0 0 0 0.524 131355 chr8 3889474 3889474 C T rs36042022 CSMD1 Nonsynonymous SNV S188N 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 22.2 131356 chr8 73921284 73921286 GAG - rs757766340 TERF1 E62del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 131357 chr8 2020570 2020570 C T rs139950018 MYOM2 Synonymous SNV R313R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.034 131358 chr8 74005179 74005179 T G rs114228241 SBSPON Synonymous SNV R42R 0.003 0.013 0.014 1 4 5 0.003 4 0 0 0 0 11.42 131359 chr8 81399161 81399161 C T ZBTB10 Nonsynonymous SNV P39L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.28 131360 chr8 8748877 8748877 G C rs141836174 MFHAS1 Nonsynonymous SNV H564Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 131361 chrX 152710422 152710422 C A rs199587066 TREX2 Nonsynonymous SNV R156L 0.016 0.023 0.014 1 19 9 0.003 4 4 3 2 0 18.46 131362 chr8 92261950 92261950 T C rs142617028 SLC26A7 Nonsynonymous SNV I24T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 131363 chr8 61192323 61192323 T C rs770200174 CA8 Nonsynonymous SNV N73D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 131364 chr19 16284006 16284006 T - CIB3 D18Afs*11 0.002 0.003 0 0 2 1 0 0 0 0 0 0 131365 chr8 144351656 144351656 C T rs373617213 GLI4 Synonymous SNV H30H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.09 131366 chr19 55693470 55693470 G A rs45510996 PTPRH Nonsynonymous SNV R860W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 33 131367 chrX 153588735 153588735 G A FLNA Nonsynonymous SNV T1143I 0.006 0.008 0 0 7 3 0 0 2 1 0 0 15.03 131368 chr19 55750853 55750853 C G PPP6R1 Nonsynonymous SNV Q557H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 131369 chr8 99266294 99266294 G A rs772633812 NIPAL2 Synonymous SNV L53L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 131370 chr8 97269324 97269324 G T rs75477527 MTERF3 Nonsynonymous SNV P118Q 0.005 0.008 0.003 7 6 3 0.018 1 0 0 0 0 24.1 131371 chr8 77616397 77616397 C G ZFHX4 Nonsynonymous SNV T25R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 131372 chr8 145640237 145640237 G A rs150864996 SLC39A4 Nonsynonymous SNV S258L 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Uncertain significance 24.7 131373 chr19 17837524 17837524 G A MAP1S Nonsynonymous SNV G418D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 131374 chr10 103908944 103908944 C T rs61756437 PPRC1 Synonymous SNV Y1319Y 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 8.939 131375 chr19 55677163 55677163 A C rs537635826 DNAAF3 Nonsynonymous SNV I18S 0.009 0.005 0 7 10 2 0.018 0 0 0 0 0 10.82 131376 chr8 86356321 86356321 G A rs868667789 CA3 Nonsynonymous SNV R137H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 131377 chr19 55693469 55693469 C T rs45541434 PTPRH Nonsynonymous SNV R860Q 0.005 0.005 0.003 4 6 2 0.01 1 1 0 0 0 27.5 131378 chr9 108284065 108284065 A G rs4742650 RALGAPA1P1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.906 131379 chr19 18368608 18368608 G A rs138496842 IQCN Synonymous SNV A1162A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 5.992 131380 chr9 111819564 111819564 C A rs201566707 TMEM245 Nonsynonymous SNV L587F 0.003 0.005 0.014 0 3 2 0 4 0 0 1 0 14.92 131381 chr10 104866464 104866464 - TG NT5C2 0.001 0.005 0 0 1 2 0 0 0 0 0 0 131382 chr8 38126365 38126365 T C rs547956546 PLPP5 Nonsynonymous SNV H73R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.142 131383 chr8 9413511 9413511 C T rs749071711 TNKS Nonsynonymous SNV A21V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 131384 chr7 142651354 142651354 G A rs8176059 KEL Nonsynonymous SNV R281W 0.013 0.01 0.007 5 15 4 0.013 2 0 0 0 0 23.8 131385 chr19 56056865 56056865 C T rs183675152 SBK3 Synonymous SNV E15E 0.003 0 0 5 4 0 0.013 0 0 0 0 0 17.35 131386 chr8 97258564 97258564 - A rs769712312 MTERF3 Frameshift insertion Q266Sfs*5 0.003 0 0 0 3 0 0 0 0 0 0 0 131387 chr8 97274290 97274290 C T PTDSS1 Nonsynonymous SNV R8W 0.003 0 0 0 3 0 0 0 0 0 0 0 33 131388 chr19 57330015 57330015 T C rs138418082 PEG3, ZIM2 Nonsynonymous SNV N242S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 131389 chr8 55538877 55538877 G A RP1 Nonsynonymous SNV S812N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 131390 chr19 57765667 57765667 C T rs765822738 ZNF805 Nonsynonymous SNV R361C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 131391 chr8 623424 623424 C T rs146427607 ERICH1 Nonsynonymous SNV G310R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.118 131392 chr19 56423925 56423928 GAAA - rs147101216 NLRP13 F419Ifs*16 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 131393 chr9 100895341 100895341 G A rs143085295 CORO2A Synonymous SNV P209P 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 8.448 131394 chr19 23542766 23542766 T C rs187078556 ZNF91 Synonymous SNV Q973Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.006 131395 chr19 58059333 58059333 C A rs765434967 ZNF550 Nonsynonymous SNV E93D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.86 131396 chr19 56538710 56538710 C T rs191432085 NLRP5 Nonsynonymous SNV L371F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.002 131397 chr8 67355056 67355056 A - ADHFE1 T42Qfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 131398 chr8 67355059 67355059 A G ADHFE1 Nonsynonymous SNV T42A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 131399 chr9 116811147 116811147 C T rs764817476 ZNF618 Nonsynonymous SNV A489V 0.003 0 0 0 3 0 0 0 0 0 0 0 31 131400 chr19 24116402 24116402 C T rs145688653 ZNF726 Nonsynonymous SNV T495I 0.014 0.005 0.014 7 16 2 0.018 4 0 0 1 0 11.74 131401 chr9 105767481 105767481 A G rs2298050 CYLC2 Nonsynonymous SNV K190E 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 2.185 131402 chr19 58355700 58355700 G A ZNF587B Nonsynonymous SNV C400Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 131403 chr19 56704420 56704420 A C rs950612646 ZSCAN5B Star tloss M1? 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.4 131404 chr9 105767536 105767536 G A rs2298051 CYLC2 Nonsynonymous SNV G208D 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 0.002 131405 chr9 105767702 105767702 T C rs2298052 CYLC2 Synonymous SNV D263D 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 0.058 131406 chr9 105767798 105767798 C T rs16922388 CYLC2 Synonymous SNV D295D 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 11.27 131407 chr9 105767869 105767869 C A rs3763636 CYLC2 Nonsynonymous SNV A319E 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 0.066 131408 chr19 30193732 30193732 C T rs146492790 C19orf12 Nonsynonymous SNV V41M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 13.01 131409 chr8 22974370 22974370 G A rs151239314 TNFRSF10C Synonymous SNV P202P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 6.029 131410 chr8 68999995 68999995 C T rs779882069 PREX2 Synonymous SNV G688G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 131411 chr8 22974406 22974450 CACCAGCCCGGGGACTCCTGCCCCAGCTGCTGAAGAGACAATGAT - rs760660688 TNFRSF10C P222_A236del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 131412 chr19 30935473 30935473 A G rs749778403 ZNF536 Nonsynonymous SNV N335S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.003 131413 chr19 57066652 57066652 G A rs150968564 ZFP28 Nonsynonymous SNV R833Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19.1 131414 chr19 57327997 57327997 C T rs55885735 PEG3 Nonsynonymous SNV G450R 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 12.2 131415 chr19 57328261 57328261 T C PEG3 Nonsynonymous SNV S362G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.702 131416 chr9 111625208 111625208 G A rs377392593 ACTL7A Synonymous SNV S202S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.966 131417 chr10 118434792 118434792 C T rs782554418 HSPA12A Nonsynonymous SNV V510M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 131418 chr9 120476716 120476716 C G rs200724681 TLR4 Synonymous SNV V570V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 131419 chr9 113170808 113170808 G A SVEP1 Nonsynonymous SNV P2358S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 131420 chr8 81897446 81897446 C T rs1866275 PAG1 Synonymous SNV T147T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.789 131421 chr9 124535526 124535526 C T rs56200518 DAB2IP Nonsynonymous SNV R783W 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 29 131422 chr8 82373754 82373754 A G rs61734383 FABP9 Nonsynonymous SNV V2A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 4.715 131423 chr8 86240881 86240881 A T rs754627939 CA1 Nonsynonymous SNV S119T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.703 131424 chr8 90967591 90967591 T C rs28538230 NBN Nonsynonymous SNV I439M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.081 131425 chr8 94146616 94146616 A G rs115051890 C8orf87 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.239 131426 chr10 125521626 125521626 G A rs62640889 CPXM2 Synonymous SNV G513G 0.014 0.01 0.014 3 16 4 0.008 4 1 0 1 0 13.01 131427 chr8 30705448 30705448 T C rs779196430 TEX15 Synonymous SNV L745L 0 0 0.003 3 0 0 0.008 1 0 0 0 0 5.665 131428 chr8 95658407 95658407 A G rs76736071 ESRP1 Synonymous SNV L129L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.71 131429 chr9 127076231 127076231 G A rs200803888 NEK6 Synonymous SNV R105R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.331 131430 chr7 16415830 16415830 C T rs757165158 CRPPA Nonsynonymous SNV V191I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.43 131431 chr9 125797697 125797697 C T rs370690398 GPR21 Synonymous SNV F284F 0.007 0 0 4 8 0 0.01 0 0 0 0 0 9.8 131432 chr8 96281292 96281292 C G rs115853053 C8orf37 Synonymous SNV R42R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.127 131433 chr7 1786056 1786056 G A rs747147896 ELFN1 Synonymous SNV K608K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.096 131434 chr20 744168 744168 C T rs147369439 SLC52A3 Synonymous SNV S349S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign 12.14 131435 chr8 99019433 99019433 C T rs201014732 MATN2 Synonymous SNV N435N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 131436 chr8 99102105 99102105 A G rs11994440 ERICH5 Nonsynonymous SNV H287R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 131437 chr8 99115076 99115076 T C rs75481338 RIDA Synonymous SNV S136S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.006 131438 chr20 869059 869059 C T rs752652800 ANGPT4 Nonsynonymous SNV M163I 0 0 0 4 0 0 0.01 0 0 0 0 0 9.41 131439 chr19 36333295 36333295 C T rs756687217 NPHS1 Nonsynonymous SNV R831H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 131440 chr9 100372648 100372648 T C rs141651539 TSTD2 Nonsynonymous SNV K272R 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 11.03 131441 chr9 130207204 130207204 A G rs759721493 ZNF79 Nonsynonymous SNV K275E 0 0 0.003 0 0 0 0 1 0 0 0 0 27 131442 chr9 117848470 117848470 C T rs189249722 TNC Nonsynonymous SNV G514R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 131443 chr10 129906453 129906453 C T rs139016865 MKI67 Synonymous SNV K857K 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 11.39 131444 chr9 127996166 127996166 A G rs77785390 RABEPK Synonymous SNV E291E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.018 131445 chr9 130891587 130891587 T C rs1418421 PTGES2-AS1 0 0 0.061 0 0 0 0 18 0 0 9 0 5.88 131446 chr9 130892379 130892379 T C rs10760542 PTGES2-AS1 0 0 0.014 0 0 0 0 4 0 0 2 0 0.474 131447 chr7 2188797 2188797 C T rs200090128 MAD1L1 Nonsynonymous SNV V263I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.119 131448 chr20 6758915 6758915 A G rs201118225 BMP2 Nonsynonymous SNV T124A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 131449 chr8 37620235 37620235 G A PLPBP Nonsynonymous SNV V20M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 32 131450 chr9 131866548 131866548 T C rs141970897 CRAT Nonsynonymous SNV Y110C 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Likely pathogenic 9.673 131451 chr9 125898422 125898422 T C STRBP Synonymous SNV P543P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.308 131452 chr7 27182949 27182949 G T HOXA5 Nonsynonymous SNV T93K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 131453 chr8 6371281 6371281 T C ANGPT2 Nonsynonymous SNV I321V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.771 131454 chr19 40902015 40902015 C T rs534322807 PRX Synonymous SNV P748P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.46 131455 chr9 137772700 137772700 C T rs55797213 FCN2 Synonymous SNV G11G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.83 131456 chr20 30070167 30070167 C A rs61754064 REM1 Synonymous SNV G167G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 131457 chr9 138656975 138656975 C T rs149960236 KCNT1 Synonymous SNV V333V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.59 131458 chr9 132502133 132502133 G A rs1015006278 PTGES Synonymous SNV H72H 0.003 0 0 0 3 0 0 0 0 0 0 0 8.799 131459 chr9 139258127 139258127 - CAGCAACCTCGGCGCGCCGCGCAGCGCAGTCCG rs759444136 DNLZ L13_S14insRTALRGAPRLL 0.002 0 0.02 0 2 0 0 6 1 0 1 0 131460 chr9 137591818 137591818 C A rs147589613 COL5A1 Nonsynonymous SNV A114D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 131461 chr8 74893535 74893535 C A rs143954787 TMEM70 Synonymous SNV I154I 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.394 131462 chr8 76452245 76452245 C T rs200724292 HNF4G Synonymous SNV Y16Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.677 131463 chr19 42558474 42558474 T C rs146585971 GRIK5 Nonsynonymous SNV M352V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.16 131464 chr9 138517932 138517932 G T GLT6D1 Synonymous SNV A80A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.529 131465 chr9 139409976 139409976 C T rs138504021 NOTCH1 Nonsynonymous SNV R621H 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 Likely benign 28.5 131466 chr9 100076689 100076689 C T CCDC180 Synonymous SNV L202L 0.002 0 0 5 2 0 0.013 0 0 0 0 0 6.071 131467 chr9 139265403 139265403 G A rs759264924 CARD9 Nonsynonymous SNV R173C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 22.4 131468 chr9 139867206 139867206 G A rs7851209 LINC02692 0 0 0.014 0 0 0 0 4 0 0 2 0 2.716 131469 chr9 139418386 139418386 C G rs374320445 NOTCH1 Synonymous SNV P62P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign/Likely benign 13.38 131470 chr7 45124708 45124708 C A rs13438759 NACAD Synonymous SNV T357T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.01 131471 chr20 39832371 39832371 C T rs148444276 ZHX3 Nonsynonymous SNV V396I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 131472 chr20 32264707 32264707 G A rs773280034 E2F1 Nonsynonymous SNV S382L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.82 131473 chr20 33338275 33338275 C T rs558366125 NCOA6 Nonsynonymous SNV G575R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 131474 chr9 140173168 140173168 G C rs756782578 TOR4A Nonsynonymous SNV E9D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.92 131475 chr8 99076929 99076929 C A ERICH5 Nonsynonymous SNV A11D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 131476 chr7 48452144 48452144 G A rs148366143 ABCA13 Synonymous SNV L4141L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 7.387 131477 chr20 44333102 44333102 A G WFDC13 Synonymous SNV P36P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 131478 chr9 102988436 102988436 C T rs747606826 INVS Synonymous SNV T122T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.31 131479 chr9 127549409 127549409 G A rs190409068 OLFML2A Synonymous SNV S82S 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 9.788 131480 chr20 45700859 45700859 G A EYA2 Nonsynonymous SNV G151S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.977 131481 chr9 138709824 138709824 G T rs148998956 CAMSAP1 Synonymous SNV R1424R 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 7.006 131482 chr9 138905076 138905076 C A NACC2 Synonymous SNV P408P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 131483 chr9 22006217 22006217 C T CDKN2B Synonymous SNV A62A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 131484 chr9 140917757 140917757 C T CACNA1B Synonymous SNV H854H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 131485 chr20 50049105 50049105 G C rs78964722 NFATC2 Nonsynonymous SNV R721G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 131486 chr9 111624812 111624812 A G rs760493859 ACTL7A Synonymous SNV K70K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.011 131487 chr9 32405589 32405589 G T rs41313772 ACO1 Nonsynonymous SNV D29Y 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 22.7 131488 chr10 50954802 50954802 G A OGDHL Synonymous SNV N221N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.627 131489 chr9 131186811 131186811 G T rs150130953 CERCAM Nonsynonymous SNV Q150H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.5 131490 chr9 33676173 33676173 C T rs111298584 PTENP1 0 0 0.041 0 0 0 0 12 0 0 0 0 8.25 131491 chr20 52192823 52192823 A C rs994953528 ZNF217 Nonsynonymous SNV V827G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 131492 chr7 6063316 6063329 TAAGTGAATTGCCG - rs750210959 AIMP2 K251Nfs*2 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 131493 chr9 23692777 23692777 G A rs142761114 ELAVL2 Synonymous SNV D273D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.034 131494 chr9 132382053 132382053 G T rs778056229 C9orf50 Synonymous SNV R189R 0.002 0 0 8 2 0 0.021 0 0 0 0 0 5.994 131495 chr20 46305260 46305260 G A rs763677139 SULF2 Nonsynonymous SNV T453M 0 0 0 3 0 0 0.008 0 0 0 0 0 27.6 131496 chr9 32634752 32634752 G A rs143742964 TAF1L Nonsynonymous SNV R276W 0.004 0 0 0 5 0 0 0 0 0 0 0 25.2 131497 chr10 6255617 6255617 C G PFKFB3 Synonymous SNV T16T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.592 131498 chr20 48429462 48429462 G T rs76846045 SLC9A8 Star tloss M1? 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 21.7 131499 chr10 64974596 64974598 TCA - rs141981100 JMJD1C H224_E225delinsQ 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 131500 chr10 64975321 64975321 C T rs34798625 JMJD1C Nonsynonymous SNV A53T 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Benign 7.283 131501 chr9 35042563 35042563 G A rs373061275 C9orf131 0.007 0 0 0 8 0 0 0 0 0 0 0 2.6 131502 chr9 4860267 4860267 C T rs115482041 RCL1 Nonsynonymous SNV L186F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 131503 chr9 35295880 35295880 C A rs35199210 UNC13B Nonsynonymous SNV D238E 0.027 0.036 0.024 9 32 14 0.023 7 0 1 0 0 Benign 22.6 131504 chr20 55108415 55108415 G A rs148487050 FAM209B Synonymous SNV S6S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 8.6 131505 chr10 70166593 70166593 C T rs376734230 RUFY2 Synonymous SNV R9R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.04 131506 chr7 75615341 75615341 G A POR Synonymous SNV A590A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.483 131507 chr9 36657290 36657290 C A rs370552987 MELK Nonsynonymous SNV A238E 0.003 0 0 0 4 0 0 0 0 0 0 0 7.266 131508 chr20 61467655 61467655 T C COL9A3 Synonymous SNV V506V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 131509 chr20 57266519 57266519 G A rs148892415 STX16-NPEPL1 0.003 0 0 5 4 0 0.013 0 0 0 0 0 18.81 131510 chr9 5921028 5921028 G A rs139423434 KIAA2026 Synonymous SNV T1656T 0.008 0.005 0.017 1 9 2 0.003 5 0 0 0 0 0.55 131511 chr9 33472373 33472373 C T NOL6 Nonsynonymous SNV G31E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.858 131512 chr9 72131348 72131348 C A APBA1 Nonsynonymous SNV R260L 0.003 0 0 0 4 0 0 0 0 0 0 0 27.3 131513 chr9 35562091 35562091 C G FAM166B Nonsynonymous SNV G232A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 131514 chr9 35562915 35562915 G A rs528294208 FAM166B Nonsynonymous SNV P150L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.317 131515 chr9 88650428 88650428 G A rs143510742 GOLM1 Synonymous SNV F290F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.848 131516 chr9 35722198 35722198 A C rs201793772 TLN1 Nonsynonymous SNV M289R 0.002 0 0 0 2 0 0 0 0 0 0 0 24 131517 chr20 61869789 61869789 A G rs61737392 BIRC7 Nonsynonymous SNV H164R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.017 131518 chr9 74360374 74360374 G A CEMIP2 Synonymous SNV S198S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 131519 chr20 61870546 61870546 C T rs11908302 BIRC7 Nonsynonymous SNV P204S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 0.01 131520 chr9 91360756 91360756 T - rs143714958 MIR4289 0 0 0.027 0 0 0 0 8 0 0 0 0 131521 chr7 94038657 94038657 C T COL1A2 Synonymous SNV N272N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.47 131522 chr9 130884681 130884681 C T rs779011818 PTGES2 Nonsynonymous SNV R322Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 131523 chr20 61943283 61943283 C T rs184582863 COL20A1 Nonsynonymous SNV P560L 0 0 0 3 0 0 0.008 0 0 0 0 0 22.9 131524 chr10 75888947 75888947 C T rs754368138 AP3M1 Nonsynonymous SNV R241H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 131525 chr9 96024212 96024212 C T rs139764590 WNK2 Synonymous SNV A1061A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 131526 chr9 139945677 139945677 C T rs76730730 ENTPD2 Nonsynonymous SNV E178K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 33 131527 chr9 140069517 140069517 C T rs138212843 ANAPC2 Synonymous SNV V782V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 7.98 131528 chrUn_gl000219 56506 56506 G C LOC105379477, LOC283788 0 0 0.129 0 0 0 0 38 0 0 13 0 131529 chrUn_gl000219 56528 56529 AA - LOC105379477, LOC283788 0 0 0.109 0 0 0 0 32 0 0 10 0 131530 chrUn_gl000219 56537 56537 A T LOC105379477, LOC283788 0 0 0.085 0 0 0 0 25 0 0 7 0 131531 chrUn_gl000219 56546 56546 T G LOC105379477, LOC283788 0 0 0.095 0 0 0 0 28 0 0 8 0 131532 chr9 88897355 88897355 G A ISCA1 Nonsynonymous SNV R7W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 131533 chr9 72914992 72914992 A G rs142488686 SMC5 Nonsynonymous SNV N447S 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 21.9 131534 chr21 15753770 15753770 G A HSPA13 Synonymous SNV T40T 0 0 0 4 0 0 0.01 0 0 0 0 0 9.578 131535 chrX 102979187 102979187 G A rs182137906 GLRA4 Nonsynonymous SNV P105S 0 0 0.01 0 0 0 0 3 0 0 0 0 18.93 131536 chr9 74315560 74315560 C T rs78031191 CEMIP2 Synonymous SNV T1062T 0.004 0 0 0 5 0 0 0 0 0 0 0 4.959 131537 chrX 103495090 103495090 - GCGCCATGGGCGGCCCGGGTGGCACAC ESX1 A346_P347insRVPPGPPMA 0 0 0.024 0 0 0 0 7 0 0 3 0 131538 chrX 103498994 103498994 G A rs782355779 ESX1 Nonsynonymous SNV T116M 0 0 0.007 0 0 0 0 2 0 0 0 0 2.816 131539 chr9 74587658 74587658 C - rs763643598 C9orf85 N126Tfs*16 0.003 0 0 0 4 0 0 0 0 0 0 0 131540 chr10 88439193 88439193 G A rs3740343 LDB3 Nonsynonymous SNV V55I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 18.65 131541 chr9 141016381 141016381 C T rs200035679 CACNA1B Nonsynonymous SNV T2317I 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 24.3 131542 chr8 10465490 10465490 C A rs201774530 RP1L1 Stop gain E2040X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 36 131543 chrX 106845345 106845345 C T rs187380964 FRMPD3 Nonsynonymous SNV S1392F 0 0 0.014 0 0 0 0 4 0 0 1 0 25.7 131544 chrX 107976499 107976499 T C rs750128009 IRS4 Nonsynonymous SNV T1026A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 131545 chr8 10467503 10467503 C T rs116242305 RP1L1 Nonsynonymous SNV E1369K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 16.08 131546 chr8 10467604 10467604 - TCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTCCCCTCTAACTGCACCA RP1L1 G1335delinsVVQLEGTKETEEGLQEEGVQLEGTKVIEGLQEER 0.002 0 0 0 2 0 0 0 0 0 0 0 131547 chr9 133578498 133578498 T C EXOSC2 Nonsynonymous SNV L218P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 131548 chr8 10470230 10470230 C T rs369924450 RP1L1 Nonsynonymous SNV G460S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 1.427 131549 chrX 115303595 115303595 G T rs121917810 AGTR2 Nonsynonymous SNV G21V 0.006 0 0.007 1 7 0 0.003 2 1 0 0 0 Benign/Likely benign 4.731 131550 chrX 119077248 119077248 G A rs35499533 NKAP Synonymous SNV P107P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.613 131551 chr8 110535120 110535120 G A rs202038373 PKHD1L1 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26.8 131552 chrX 119249545 119249545 C T rs61737035 RHOXF1 Synonymous SNV E76E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.069 131553 chrX 119760356 119760356 C G rs200973382 C1GALT1C1 Nonsynonymous SNV Q222H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 131554 chr9 19352103 19352103 C G DENND4C Nonsynonymous SNV Q1461E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.37 131555 chrX 125685455 125685455 G A rs149056465 DCAF12L1 Synonymous SNV A379A 0.003 0 0.003 2 3 0 0.005 1 1 0 0 0 Benign 0.316 131556 chr9 84200514 84200514 G A rs143208469 TLE1 Synonymous SNV S688S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 131557 chr9 86616493 86616493 T C rs35657089 RMI1 Synonymous SNV L198L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 131558 chr9 26887511 26887511 C T CAAP1 Nonsynonymous SNV E102K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 33 131559 chr9 135201911 135201911 A G rs751000551 SETX Synonymous SNV L1692L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 131560 chr10 97096645 97096645 C T rs117449139 SORBS1 Nonsynonymous SNV S1091N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.793 131561 chr21 44483184 44483184 A G rs5742905 CBS, CBSL Nonsynonymous SNV I173T 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23.5 131562 chrX 152014893 152014893 A G rs35529894 NSDHL Nonsynonymous SNV M9V 0.001 0.01 0.007 2 1 4 0.005 2 0 2 0 1 Benign/Likely benign 0.001 131563 chr21 45194588 45194588 G A CSTB Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 131564 chr21 45542072 45542072 T A rs17856422 LOC102724159, PWP2 Nonsynonymous SNV F551I 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 28.5 131565 chrX 153173295 153173295 G A rs151147398 ARHGAP4 Nonsynonymous SNV P910L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.93 131566 chrX 153207025 153207025 T C rs2269371 RENBP Nonsynonymous SNV D284G 0.015 0.008 0.01 7 18 3 0.018 3 5 1 1 2 22.8 131567 chr9 37746405 37746405 G A rs764052240 FRMPD1 Nonsynonymous SNV R1459Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 131568 chrX 118109108 118109108 C G rs61730253 LONRF3 Nonsynonymous SNV A122G 0.013 0.003 0.01 1 15 1 0.003 3 4 0 1 0 0.373 131569 chr21 43256581 43256581 C T rs146308202 PRDM15 Synonymous SNV S430S 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 10.87 131570 chrX 123468470 123468470 A G rs4399052 TEX13D Nonsynonymous SNV D568G 0.009 0.008 0 3 11 3 0.008 0 0 1 0 0 0.15 131571 chrX 153688952 153688952 G A rs782524860 PLXNA3 Synonymous SNV S143S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.123 131572 chr8 141810604 141810604 C A rs139753749 PTK2 Synonymous SNV R179R 0.007 0.008 0.007 5 8 3 0.013 2 0 0 0 0 Benign 14.8 131573 chrX 15536078 15536078 G A BMX Nonsynonymous SNV E158K 0.002 0 0 0 2 0 0 0 1 0 0 0 9.771 131574 chrX 16627756 16627756 C T rs1048392 CTPS2 Synonymous SNV P533P 0.009 0.005 0 3 10 2 0.008 0 4 1 0 1 10.47 131575 chrX 131205147 131205147 A G rs139399862 STK26 Synonymous SNV S216S 0.003 0 0 0 3 0 0 0 1 0 0 0 8.751 131576 chr9 139943267 139943267 G A rs756002752 ENTPD2 Synonymous SNV L421L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.71 131577 chr8 143412291 143412291 C T rs757276660 TSNARE1 Synonymous SNV P69P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 16.58 131578 chr21 45544509 45544509 G A rs145034831 LOC102724159, PWP2 Synonymous SNV A622A 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 14.84 131579 chr9 74863229 74863229 C G rs371886825 GDA Nonsynonymous SNV Q446E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.349 131580 chr9 140108794 140108794 G T rs142353569 NDOR1 Nonsynonymous SNV Q183H 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 16.26 131581 chr9 140109576 140109576 C T rs200762867 NDOR1 Synonymous SNV A331A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.47 131582 chr9 77403548 77403548 A G rs373991938 TRPM6 Synonymous SNV A878A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 0.016 131583 chr9 140139795 140139795 G A rs377755707 FAM166A Synonymous SNV S162S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.709 131584 chrX 29417296 29417296 C T IL1RAPL1 Nonsynonymous SNV P192S 0.002 0 0 2 2 0 0.005 0 1 0 0 1 11.83 131585 chrX 43590970 43590970 G A rs138703731 MAOA Synonymous SNV P275P 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 1 Conflicting interpretations of pathogenicity 2.589 131586 chrX 149639359 149639359 T C rs61740566 MAMLD1 Nonsynonymous SNV V480A 0.005 0.008 0 6 6 3 0.015 0 1 0 0 2 Benign 0.001 131587 chrX 149681082 149681082 C T MAMLD1 Synonymous SNV D912D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.574 131588 chrX 151092339 151092339 G A rs199930521 MAGEA4 Nonsynonymous SNV G68E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.056 131589 chrX 151303631 151303631 C A rs146444641 MAGEA10 Synonymous SNV P154P 0.003 0.008 0 2 4 3 0.005 0 1 1 0 1 13.5 131590 chrX 46359996 46359996 G A rs61730637 ZNF674 Nonsynonymous SNV T343M 0.003 0.005 0.003 1 4 2 0.003 1 2 1 0 0 Benign 0.072 131591 chrX 46434020 46434020 C T rs138804520 CHST7 Synonymous SNV G218G 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 Benign 11.83 131592 chr9 19080577 19080577 G A rs142022872 HAUS6 Nonsynonymous SNV R322C 0.009 0.008 0.003 2 11 3 0.005 1 0 0 0 0 20.8 131593 chr9 89561474 89561474 G C rs568303782 GAS1 Nonsynonymous SNV P74R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 131594 chrX 153296460 153296460 C A rs61750245 MECP2 Synonymous SNV G285G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.201 131595 chrX 50377938 50377938 C T rs376491533 SHROOM4 Nonsynonymous SNV V379M 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.036 131596 chrX 153668782 153668782 G C GDI1 Synonymous SNV L216L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 131597 chrX 69672519 69672519 G C rs199928682 DLG3 Nonsynonymous SNV L16F 0.004 0 0.003 1 5 0 0.003 1 2 0 0 0 8.769 131598 chrX 76938153 76938153 G C rs61752455 ATRX Nonsynonymous SNV H827Q 0.004 0.003 0.007 2 5 1 0.005 2 2 0 1 0 Benign 0.001 131599 chrX 77243944 77243944 G A rs61747968 ATP7A Synonymous SNV K109K 0.005 0.008 0.007 2 6 3 0.005 2 2 1 1 0 Benign 5.901 131600 chr22 19961730 19961730 G A rs146960902 ARVCF Nonsynonymous SNV R665C 0.003 0 0 3 4 0 0.008 0 0 0 0 0 34 131601 chr22 25289460 25289460 G A rs368461788 SGSM1 Synonymous SNV A611A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 131602 chr11 111179155 111179155 A G rs540046911 COLCA2 Nonsynonymous SNV Y153C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.6 131603 chr22 20759672 20759672 G A rs3747076 ZNF74 Nonsynonymous SNV G88E 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 0.542 131604 chr22 20761192 20761192 G T rs117467773 ZNF74 Nonsynonymous SNV K552N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 22.2 131605 chr22 20761193 20761193 C T rs117660317 ZNF74 Nonsynonymous SNV L553F 0.003 0 0 3 3 0 0.008 0 0 0 0 0 25.7 131606 chr10 101180402 101180402 G A GOT1 Synonymous SNV S93S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.805 131607 chrX 47062130 47062130 C T rs148642741 UBA1 Nonsynonymous SNV R384W 0.009 0 0 1 10 0 0.003 0 2 0 0 0 32 131608 chr8 145663934 145663934 G A rs910699280 TONSL Stop gain R525X 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 37 131609 chr10 1042148 1042148 G C rs149909914 GTPBP4 Nonsynonymous SNV K142N 0 0 0.007 0 0 0 0 2 0 0 0 0 20.4 131610 chr10 102510457 102510457 C T rs139724326 PAX2 Synonymous SNV Y73Y 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 12.8 131611 chr9 37740726 37740726 C T rs147406379 FRMPD1 Nonsynonymous SNV P734L 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 3.951 131612 chr9 37745102 37745102 G A rs144235249 FRMPD1 Nonsynonymous SNV A1025T 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 5.589 131613 chrX 114425342 114425342 C T RBMXL3 Synonymous SNV G446G 0.003 0 0 0 4 0 0 0 1 0 0 0 8.082 131614 chr11 114310345 114310345 C T rs151309008 REXO2 Nonsynonymous SNV A32V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.6 131615 chr9 37746145 37746145 G A rs148788040 FRMPD1 Synonymous SNV A1372A 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 6.656 131616 chr9 37784876 37784876 T G rs148348866 EXOSC3 Nonsynonymous SNV N56H 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.81 131617 chr9 37784989 37784989 C G rs145677716 EXOSC3 Nonsynonymous SNV R18P 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 Likely benign 25.6 131618 chr9 37784990 37784990 G A rs147135294 EXOSC3 Nonsynonymous SNV R18C 0.009 0.01 0.003 1 10 4 0.003 1 0 0 0 0 Likely benign 25.8 131619 chrX 54949347 54949347 C G rs777734617 TRO Nonsynonymous SNV Q128E 0.002 0 0.007 0 2 0 0 2 0 0 1 0 3.526 131620 chrX 124097537 124097537 A G TENM1 Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.125 131621 chrX 124454266 124454266 T C rs750111523 TEX13C Nonsynonymous SNV C100R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.291 131622 chr10 106058936 106058936 G A rs142597418 GSTO2 Stop gain W147X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 131623 chr8 17849148 17849148 C G rs150845188 PCM1 Synonymous SNV T1488T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.47 131624 chr10 1065692 1065692 C A rs767884934 IDI2 Nonsynonymous SNV C150F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 131625 chrX 69282652 69282652 A G rs144122625 OTUD6A Nonsynonymous SNV K93R 0.009 0.005 0 0 11 2 0 0 3 1 0 0 0.002 131626 chr8 19250860 19250860 T A rs149184974 SH2D4A Synonymous SNV L315L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.367 131627 chr9 73230878 73230878 T C rs144207909 TRPM3 Synonymous SNV A802A 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 6.129 131628 chr10 105947247 105947247 G A rs35021397 CFAP43 Nonsynonymous SNV S564F 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 Benign 0.167 131629 chrX 139040238 139040238 G A rs767418485 CXorf66 Nonsynonymous SNV A76V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 131630 chrX 70888594 70888594 C T rs1036426251 LOC101059915 Nonsynonymous SNV P314L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.34 131631 chrX 71131075 71131075 C T rs184072142 NHSL2 Synonymous SNV H46H 0.02 0.013 0.007 0 24 5 0 2 6 2 1 0 8.405 131632 chr10 115480788 115480788 C T rs78946854 CASP7 Synonymous SNV T121T 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 15.48 131633 chr22 32108092 32108092 T C rs749741518 PRR14L Synonymous SNV Q1911Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 131634 chr11 119059475 119059475 C T PDZD3 Nonsynonymous SNV P396S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.63 131635 chr11 119211025 119211025 C T C1QTNF5 Nonsynonymous SNV C28Y 0.003 0 0 0 3 0 0 0 0 0 0 0 25 131636 chrX 77913537 77913537 T G rs771459660 RTL3 Synonymous SNV P127P 0.006 0.005 0 0 7 2 0 0 2 1 0 0 0.079 131637 chr10 11912082 11912082 C T PROSER2 Nonsynonymous SNV L329F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.798 131638 chrX 152663148 152663148 G A rs781894072 PNMA6E Nonsynonymous SNV A387V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.931 131639 chr11 12248669 12248669 G A MICAL2 Synonymous SNV R662R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.64 131640 chr9 86004569 86004569 G T rs759174324 FRMD3 Nonsynonymous SNV L68M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 131641 chr10 100148117 100148117 C T rs147555747 PYROXD2 Nonsynonymous SNV D481N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 131642 chr22 36702058 36702058 G A rs751852988 MYH9 Nonsynonymous SNV R693C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 131643 chr11 12348797 12348797 G A rs757130529 MICALCL Synonymous SNV A571A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.78 131644 chr8 27396191 27396191 C T EPHX2 Nonsynonymous SNV H354Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 131645 chr8 27891098 27891098 G A rs367823438 NUGGC Synonymous SNV P576P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.18 131646 chrX 154013387 154013387 G A MPP1 Synonymous SNV S224S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 131647 chr9 96827055 96827055 C G PTPDC1 Nonsynonymous SNV P12A 0.002 0 0 5 2 0 0.013 0 0 0 0 0 0.006 131648 chr22 38121637 38121637 G A rs368593552 TRIOBP Nonsynonymous SNV R1025Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 131649 chr10 124909429 124909429 G C rs979124165 HMX2 Nonsynonymous SNV W204C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 131650 chrX 24948626 24948626 G A rs200725778 POLA1 Synonymous SNV A1407A 0.001 0.021 0 1 1 8 0.003 0 0 4 0 0 11.13 131651 chr10 123274639 123274639 G C FGFR2 Nonsynonymous SNV Q315E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.1 131652 chr10 124740079 124740079 G A rs79913180 PSTK Synonymous SNV A28A 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 15.69 131653 chr10 112654238 112654238 C T rs41292602 PDCD4 Synonymous SNV S375S 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Benign 14.86 131654 chrX 38132649 38132649 T G rs779309526 RPGR Nonsynonymous SNV K571T 0.005 0.01 0 1 6 4 0.003 0 2 2 0 0 9.472 131655 chr20 19955473 19955473 C T rs41306763 RIN2 Synonymous SNV A268A 0.009 0.003 0.007 2 11 1 0.005 2 0 0 0 0 Likely benign 12.56 131656 chr11 126208199 126208199 G A rs772776014 DCPS Nonsynonymous SNV D188N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.2 131657 chr8 56698365 56698365 G A rs61753685 TGS1 Nonsynonymous SNV S85N 0.011 0.013 0.007 2 13 5 0.005 2 0 0 0 0 Benign 0.237 131658 chrX 54020177 54020177 G A PHF8 Synonymous SNV L531L 0.004 0 0 0 5 0 0 0 0 0 0 0 4.641 131659 chr22 44489836 44489836 T A rs767489881 PARVB Nonsynonymous SNV N10K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 131660 chr11 129746704 129746704 C T rs137901843 NFRKB Synonymous SNV V578V 0.004 0 0 0 5 0 0 0 0 0 0 0 16.79 131661 chr10 118354250 118354250 C T rs202053226 PNLIPRP1 Synonymous SNV F113F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 131662 chrX 153218182 153218182 G A rs192386572 HCFC1 Synonymous SNV P1575P 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 Benign 0.464 131663 chrX 69615841 69615841 G A KIF4A Nonsynonymous SNV E811K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 131664 chr10 16996475 16996475 T C CUBN Nonsynonymous SNV I1590V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.871 131665 chrX 153581714 153581714 G A rs187029309 FLNA Nonsynonymous SNV S1983L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 Benign/Likely benign 25.8 131666 chr22 46859637 46859637 C T rs754458990 CELSR1 Nonsynonymous SNV G1384S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 131667 chr10 134738323 134738323 C T rs534012793 CFAP46 Nonsynonymous SNV R378Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.779 131668 chr20 33370057 33370057 A G NCOA6 Synonymous SNV D34D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.013 131669 chrX 71840621 71840621 G T PHKA1 Stop gain C697X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 131670 chr11 15198695 15198695 G A rs895465296 INSC Synonymous SNV S147S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 131671 chrX 77275826 77275826 A C ATP7A Synonymous SNV A826A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 131672 chr8 77618134 77618134 G A rs575428085 ZFHX4 Nonsynonymous SNV G604E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.11 131673 chr10 23482764 23482764 C G PTF1A Nonsynonymous SNV P306A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 131674 chrX 154033625 154033625 G A MPP1 Synonymous SNV G8G 0.002 0 0 0 2 0 0 0 1 0 0 0 12.35 131675 chr20 34785935 34785935 C G rs6089016 EPB41L1 Nonsynonymous SNV P473R 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 24.9 131676 chrX 19014210 19014210 C T rs142899178 ADGRG2 Nonsynonymous SNV R854Q 0.011 0.008 0 6 13 3 0.015 0 3 1 0 2 Likely benign 24.3 131677 chr22 50495403 50495403 C T rs929089820 TTLL8 0.001 0 0 0 1 0 0 0 0 0 0 0 5.958 131678 chrX 22095637 22095637 A G rs761971488 PHEX Synonymous SNV L160L 0.004 0 0 2 5 0 0.005 0 2 0 0 1 6.719 131679 chr10 15726088 15726088 C T rs72781816 ITGA8 Synonymous SNV P161P 0.01 0.008 0.014 2 12 3 0.005 4 0 0 0 0 Benign 10.56 131680 chr22 50688573 50688573 G A rs143228101 HDAC10 Nonsynonymous SNV A103V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 131681 chr22 50927837 50927837 C T rs777030440 MIOX Stop gain Q200X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 131682 chr8 95893915 95893915 T C rs28399585 CCNE2 Nonsynonymous SNV N387S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.023 131683 chrX 30269077 30269077 G A rs373877042 MAGEB1 Nonsynonymous SNV R156H 0.003 0 0 2 3 0 0.005 0 1 0 0 1 0.044 131684 chr20 43836029 43836029 C T SEMG1 Stop gain R31X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 131685 chr22 50987051 50987051 G A rs903008787 KLHDC7B Synonymous SNV G793G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.094 131686 chr22 51143467 51143467 G A rs746213189 SHANK3 Nonsynonymous SNV V719I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 131687 chr11 20180782 20180782 A C DBX1 Nonsynonymous SNV F142V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 131688 chr10 43654185 43654185 T G rs368333949 CSGALNACT2 Nonsynonymous SNV D228E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 131689 chr9 103054747 103054747 A G INVS Synonymous SNV A410A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.615 131690 chr11 22399205 22399205 T C rs367640245 SLC17A6 Synonymous SNV S556S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.139 131691 chr9 107266835 107266835 G A rs143065377 OR13F1 Nonsynonymous SNV A98T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23 131692 chrX 66766412 66766412 C T rs200390780 AR Nonsynonymous SNV A475V 0.009 0.003 0.007 2 11 1 0.005 2 4 0 0 1 Uncertain significance 22.8 131693 chrX 19560085 19560085 C T rs143279224 SH3KBP1 Nonsynonymous SNV R336H 0.002 0 0 0 2 0 0 0 1 0 0 0 24.3 131694 chrX 70357464 70357464 C T rs201608537 MED12 Synonymous SNV S1935S 0.006 0 0 2 7 0 0.005 0 3 0 0 1 Benign/Likely benign 13.78 131695 chrX 71359984 71359984 G A rs778021560 NHSL2 Synonymous SNV L862L 0.006 0 0 2 7 0 0.005 0 3 0 0 1 1.961 131696 chr11 28080518 28080518 G T KIF18A Nonsynonymous SNV L635I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 131697 chrX 37984724 37984724 T A rs765674083 SYTL5 Nonsynonymous SNV I694N 0.002 0 0 0 2 0 0 0 1 0 0 0 32 131698 chr20 57767481 57767481 C T ZNF831 Synonymous SNV P469P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.151 131699 chr9 114475423 114475423 G A rs144147672 SHOC1 Synonymous SNV D712D 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 11.4 131700 chr9 115806497 115806497 T C ZFP37 Nonsynonymous SNV K149R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.004 131701 chr10 21177049 21177051 CTC - rs773042028 NEBL G115del 0.002 0 0 0 2 0 0 0 0 0 0 0 131702 chr10 55582200 55582200 A T rs58461416 PCDH15 Synonymous SNV P1722P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.065 131703 chr10 55600223 55600223 A G PCDH15 Synonymous SNV P1209P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 5.692 131704 chr10 22880653 22880653 G A PIP4K2A Nonsynonymous SNV R74C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 131705 chr10 105207176 105207176 G A rs2232663 CALHM2 Synonymous SNV A235A 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 13.29 131706 chr10 48390294 48390294 T C RBP3 Nonsynonymous SNV H195R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.8 131707 chrX 68725839 68725839 G C rs773625287 FAM155B Synonymous SNV G238G 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.278 131708 chr10 61844537 61844537 C T rs150367434 ANK3 Synonymous SNV T433T 0.001 0.016 0.01 1 1 6 0.003 3 0 0 0 0 Likely benign 15.14 131709 chrX 49854880 49854880 G A rs375399850 CLCN5 Nonsynonymous SNV V548M 0 0.003 0 5 0 1 0.013 0 0 0 0 2 Likely benign 24 131710 chrX 73960146 73960146 G A rs143577015 NEXMIF Nonsynonymous SNV P1416S 0.022 0.026 0.007 6 26 10 0.015 2 7 3 0 1 Benign 1.837 131711 chr10 104173673 104173673 C A rs145677127 PSD Nonsynonymous SNV G469V 0 0.008 0.007 0 0 3 0 2 0 0 0 0 29.2 131712 chr10 64414641 64414641 C T rs140515522 ZNF365 Nonsynonymous SNV P26L 0 0 0.007 0 0 0 0 2 0 0 0 0 3.51 131713 chr10 50315999 50315999 C T rs148517338 VSTM4 Nonsynonymous SNV V33M 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 24.1 131714 chrX 66765159 66765185 GCAGCAGCAGCAGCAGCAGCAGCAGCA - AR Q72_Q80del 0 0 0 2 0 0 0.005 0 0 0 0 1 131715 chrX 67940202 67940202 C T rs41303723 STARD8 Synonymous SNV G582G 0 0.003 0.007 5 0 1 0.013 2 0 0 1 2 14.66 131716 chrX 92927378 92927378 T C rs146057748 NAP1L3 Nonsynonymous SNV K309R 0.002 0 0 1 2 0 0.003 0 1 0 0 0 23.8 131717 chrX 70375072 70375072 G A rs765121384 NLGN3 Nonsynonymous SNV D156N 0.002 0.003 0 8 2 1 0.021 0 1 0 0 3 22.8 131718 chrX 99933584 99933584 G A rs144944700 SYTL4 Synonymous SNV P557P 0.003 0 0.003 4 4 0 0.01 1 1 0 0 1 9.057 131719 chr10 30602647 30602647 T C rs372811219 MTPAP Nonsynonymous SNV N547S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.024 131720 chr9 117849523 117849523 C A rs368041702 TNC Nonsynonymous SNV G163C 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 32 131721 chrX 71360317 71360317 C T rs145084561 NHSL2 Synonymous SNV D973D 0.005 0.013 0.014 8 6 5 0.021 4 2 2 1 2 0.501 131722 chr9 121971061 121971061 G C rs146310694 BRINP1 Nonsynonymous SNV R361G 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 26.8 131723 chr10 52603874 52603874 T C rs142969066 A1CF Synonymous SNV G36G 0.009 0.003 0.007 0 10 1 0 2 1 0 0 0 Benign 3.593 131724 chr10 126454008 126454008 G A rs147182290 EEF1AKMT2 Nonsynonymous SNV T112M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 131725 chr10 112838291 112838293 CTC - ADRA2A S180del 0 0.005 0 0 0 2 0 0 0 0 0 0 131726 chr10 72534990 72534990 A G rs375590189 TBATA Synonymous SNV L244L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.243 131727 chr10 1284214 1284214 C T rs139572548 ADARB2 Synonymous SNV T447T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.13 131728 chr10 45958894 45958894 G C MARCHF8 Nonsynonymous SNV L265V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.219 131729 chr10 73466816 73466816 C T rs367967393 CDH23 Nonsynonymous SNV P1039L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.789 131730 chrX 135630986 135630986 C T rs201330713 VGLL1 Synonymous SNV P151P 0.002 0 0 0 2 0 0 0 1 0 0 0 6.095 131731 chr10 6527158 6527158 T C rs761077817 PRKCQ Nonsynonymous SNV K200R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.123 131732 chr10 76737088 76737088 A G rs145378526 KAT6B Nonsynonymous SNV I315V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 131733 chrX 151138795 151138795 C T GABRE Nonsynonymous SNV E46K 0.002 0 0 0 2 0 0 0 1 0 0 0 1.43 131734 chr10 85960430 85960430 C G rs759855253 CDHR1 Nonsynonymous SNV T171S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 131735 chrX 153171445 153171445 T C rs374461463 AVPR2 Nonsynonymous SNV V162A 0.005 0.005 0.007 0 6 2 0 2 2 1 1 0 Likely benign 3.707 131736 chr10 71637803 71637803 G A rs756869472 COL13A1 Synonymous SNV K136K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.7 131737 chr10 72358477 72358477 C T rs145463632 PRF1 Nonsynonymous SNV G334S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.009 131738 chr9 131038437 131038437 G A rs867828983 SWI5 Nonsynonymous SNV G5S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 131739 chr9 131565718 131565718 G A rs201827435 TBC1D13 Nonsynonymous SNV D245N 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 27.2 131740 chr10 123988931 123988931 G C rs138735982 TACC2 Nonsynonymous SNV C734S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 131741 chr10 16528366 16528366 A T rs149823824 PTER Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 131742 chr11 4903673 4903673 - ACCACCCC rs564566592 OR51T1 Frameshift insertion E185Tfs*5 0.009 0.008 0.007 4 11 3 0.01 2 1 0 0 0 131743 chr10 1263014 1263014 C T rs749375883 ADARB2 Nonsynonymous SNV R520H 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 35 131744 chr10 97791630 97791630 T C rs781655259 CC2D2B Synonymous SNV D278D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.428 131745 chr21 43413359 43413359 A G rs7276668 ZBTB21 Synonymous SNV V282V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.951 131746 chr1 1115601 1115601 C T rs139976815 TTLL10 Synonymous SNV N56N 0 0 0.003 3 0 0 0.008 1 0 0 0 0 2.017 131747 chr10 81192397 81192397 G A rs368076241 ZCCHC24 Nonsynonymous SNV R122C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 131748 chr1 1177948 1177948 C T rs761390987 C1QTNF12 Nonsynonymous SNV G297R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.3 131749 chr10 127677872 127677872 G A rs578135024 FANK1 Nonsynonymous SNV V114I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.351 131750 chr10 81372994 81372994 T C rs1059056 SFTPA1 Synonymous SNV F114F 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Benign/Likely benign 0.843 131751 chr1 1271894 1271894 C G rs773112898 DVL1 Synonymous SNV G572G 0 0 0 2 0 0 0.005 0 0 0 0 0 1.969 131752 chr10 99141532 99141532 C T rs147919637 RRP12 Synonymous SNV A320A 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 16.81 131753 chr10 6527221 6527221 A G rs142220465 PRKCQ Nonsynonymous SNV L179S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.626 131754 chr10 82034857 82034857 C T rs770557080 MAT1A Synonymous SNV K289K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 131755 chr1 1647817 1647817 C T rs760989414 CDK11A, CDK11B Synonymous SNV R142R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.03 131756 chr10 21134262 21134262 T C NEBL Synonymous SNV K384K 0.005 0 0 0 6 0 0 0 0 0 0 0 5.55 131757 chr10 105927383 105927383 A G CFAP43 Nonsynonymous SNV L935P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 131758 chr1 1689960 1689960 G A rs186024117 NADK Nonsynonymous SNV P4L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.23 131759 chr10 131565228 131565228 T A rs2308324 MGMT Synonymous SNV A197A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 6.124 131760 chr10 70645258 70645258 C G rs16925882 STOX1 Nonsynonymous SNV P569R 0.008 0.005 0 0 9 2 0 0 0 0 0 0 0.032 131761 chr10 13212977 13212977 C G rs561726971 MCM10 Synonymous SNV A21A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 131762 chr11 1016833 1016833 G T rs71472140 MUC6 Nonsynonymous SNV Q1990K 0 0 0.031 0 0 0 0 9 0 0 0 0 0.001 131763 chr10 135086761 135086761 G T rs374243861 ADAM8 Synonymous SNV P151P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.438 131764 chr10 70960193 70960193 A G rs544531916 SUPV3L1 Nonsynonymous SNV M157V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 13.59 131765 chr10 28438930 28438930 G A rs147999424 MPP7 Nonsynonymous SNV A72V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 31 131766 chr21 46924398 46924398 C T COL18A1 Synonymous SNV F1112F 0 0.003 0 0 0 1 0 0 0 0 0 0 3.143 131767 chr21 46932129 46932129 G A rs113315760 COL18A1 Synonymous SNV S1456S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 8.389 131768 chr9 138587008 138587008 C T rs374532775 SOHLH1 Nonsynonymous SNV V255M 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 1.07 131769 chr1 3669356 3669356 G A rs76597070 CCDC27 Nonsynonymous SNV R104K 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 7.169 131770 chr10 93711300 93711300 G T rs143465709 BTAF1 Nonsynonymous SNV A181S 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 7.846 131771 chr10 19636924 19636924 A T rs61102006 MALRD1 Nonsynonymous SNV S1376C 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 24.9 131772 chr10 121663629 121663629 C T rs150120116 SEC23IP Nonsynonymous SNV T314M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 131773 chr9 139973561 139973561 C A rs200693101 UAP1L1 Synonymous SNV I268I 0.007 0.005 0 0 8 2 0 0 0 0 0 0 22.4 131774 chr11 103908585 103908585 G A rs201869097 DDI1 Synonymous SNV K345K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.77 131775 chr10 8100452 8100452 G A rs200317918 GATA3 Synonymous SNV S142S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 131776 chr10 22292280 22292280 - TG rs575609970 DNAJC1 Frameshift insertion T29Rfs*31 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 131777 chr10 22292281 22292281 - G DNAJC1 Frameshift insertion R28Pfs*30 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 131778 chr9 140063830 140063830 C G rs574312297 LRRC26 Nonsynonymous SNV R189P 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23.1 131779 chr22 19119732 19119732 C - TSSK2 K276Sfs*30 0.002 0.008 0 7 2 3 0.018 0 0 0 0 0 131780 chr10 124350995 124350995 A G rs755664364 DMBT1 Nonsynonymous SNV D703G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.146 131781 chr9 140400464 140400464 C T rs74637847 PNPLA7 Nonsynonymous SNV E408K 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 10.68 131782 chr22 24041104 24041104 C T rs372190471 RGL4 Nonsynonymous SNV P516L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.786 131783 chr10 134726702 134726702 G A rs556772478 CFAP46 Synonymous SNV I727I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.753 131784 chr10 43650705 43650705 C G CSGALNACT2 Synonymous SNV P36P 0 0.005 0 0 0 2 0 0 0 0 0 0 9.525 131785 chr22 24561534 24561534 G A rs148220023 CABIN1 Synonymous SNV A1599A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 13.82 131786 chr1 16065881 16065881 G T rs756259987 SLC25A34 Nonsynonymous SNV A299S 0 0 0 3 0 0 0.008 0 0 0 0 0 9.837 131787 chr22 24919586 24919586 G A rs143493067 UPB1 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 131788 chr9 33465895 33465895 C A rs202071111 NOL6 Nonsynonymous SNV D789Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 131789 chr10 98127908 98127908 C T rs141843990 TLL2 Synonymous SNV K995K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.42 131790 chr9 35045126 35045126 T C rs116478544 C9orf131 Nonsynonymous SNV Y799H 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.002 131791 chr1 17319013 17319013 G A ATP13A2 Nonsynonymous SNV P600S 0 0 0 3 0 0 0.008 0 0 0 0 0 24.1 131792 chr10 135197680 135197680 G T rs3747879 PAOX Nonsynonymous SNV R362L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 131793 chr11 119183244 119183244 C T rs138873873 MCAM Nonsynonymous SNV S285N 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 10.62 131794 chr10 70332714 70332714 A G rs748355482 TET1 Nonsynonymous SNV S207G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 131795 chr11 100830660 100830660 A G ARHGAP42 Synonymous SNV Q403Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.715 131796 chr10 71008190 71008190 C T rs148832840 HKDC1 Nonsynonymous SNV R426C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.2 131797 chr11 102592489 102592489 G A rs764807676 MMP8 Stop gain R118X 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.5 131798 chr9 5747339 5747339 G A rs776830389 RIC1 Nonsynonymous SNV R429H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.1 131799 chr11 123676366 123676366 C T rs77812199 OR6M1 Nonsynonymous SNV R231H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.9 131800 chr10 50530724 50530724 A G rs151171891 C10orf71 Nonsynonymous SNV D45G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.7 131801 chr11 123886930 123886930 T G rs781058103 OR10G4 Nonsynonymous SNV Y217D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 131802 chr10 24880861 24880861 G C rs373696545 ARHGAP21 Synonymous SNV T1106T 0.005 0 0 0 6 0 0 0 0 0 0 0 7.239 131803 chr11 59623503 59623503 T C rs139595894 TCN1 Nonsynonymous SNV N259S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.002 131804 chr1 23346225 23346225 G A rs144822945 KDM1A Nonsynonymous SNV G46S 0.003 0.003 0.003 9 3 1 0.023 1 0 0 0 0 Uncertain significance 15.53 131805 chr10 60127732 60127732 C G rs61749178 UBE2D1 Synonymous SNV P80P 0.022 0.013 0.003 8 26 5 0.021 1 0 0 0 0 13.66 131806 chr10 7842004 7842004 A G rs772457461 ATP5F1C Nonsynonymous SNV Y149C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 131807 chr10 69644519 69644519 T C rs201230502 SIRT1 Nonsynonymous SNV S14P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.67 131808 chr10 79797043 79797043 A G rs147128920 RPS24 Nonsynonymous SNV N124S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 18.2 131809 chr10 32320002 32320002 G A rs35441986 KIF5B Nonsynonymous SNV S527L 0.004 0 0 0 5 0 0 0 0 0 0 0 24 131810 chr10 33502317 33502317 C T rs150625889 NRP1 Synonymous SNV A537A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.81 131811 chr9 96054952 96054952 G T rs143837133 WNK2 Nonsynonymous SNV Q1735H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 13.13 131812 chr11 115088681 115088681 T G rs201292141 CADM1 Nonsynonymous SNV Y251S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.31 131813 chr11 14507937 14507937 G C rs139547283 COPB1 Synonymous SNV L271L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 11.18 131814 chr11 1471831 1471831 C T rs200437668 BRSK2 Synonymous SNV P434P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 131815 chr11 62445039 62445041 GGA - rs767555330 UBXN1 P142del 0.002 0 0.007 0 2 0 0 2 0 0 0 0 131816 chr11 16071340 16071340 T C SOX6 Nonsynonymous SNV S425G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 131817 chr11 17464341 17464341 C A ABCC8 Nonsynonymous SNV R519L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 131818 chr11 119182576 119182576 C T rs138818211 MCAM Synonymous SNV A409A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 9.745 131819 chr11 17632082 17632082 C A rs193083374 OTOG Synonymous SNV L1757L 0.008 0 0.007 0 9 0 0 2 0 0 0 0 Benign/Likely benign 9.655 131820 chr10 7627957 7627957 G A rs145334714 ITIH5 Nonsynonymous SNV R125W 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 34 131821 chr10 76979070 76979070 A G rs144704103 VDAC2 Synonymous SNV Q104Q 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 5.355 131822 chr11 17741349 17741349 C A rs747516939 MYOD1 Nonsynonymous SNV P7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 131823 chr10 7763614 7763614 G A rs769730496 ITIH2 Synonymous SNV A247A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.086 131824 chr22 46657447 46657447 G A rs148804315 PKDREJ Synonymous SNV H591H 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 4.384 131825 chr11 64503391 64503391 G A rs114654732 RASGRP2 Nonsynonymous SNV P386L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 131826 chr10 87898775 87898775 C T rs778297585 GRID1 Nonsynonymous SNV R176H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 131827 chr22 46761568 46761568 C T rs34191340 CELSR1 Synonymous SNV K2773K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 9.539 131828 chrX 152612646 152612646 C T rs782706353 ZNF275 Nonsynonymous SNV A168V 0.001 0.003 0 5 1 1 0.013 0 0 0 0 2 5.108 131829 chrX 153297660 153297660 G T rs146107517 MECP2 Synonymous SNV I137I 0.001 0.003 0 5 1 1 0.013 0 0 0 0 2 Conflicting interpretations of pathogenicity 13.05 131830 chrX 153581775 153581775 T A rs190712778 FLNA Nonsynonymous SNV I1963F 0.003 0.005 0 0 3 2 0 0 0 1 0 0 Likely benign 17.66 131831 chr1 45288983 45288983 G A rs143986029 PTCH2 Synonymous SNV T1063T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 9.652 131832 chr10 97096647 97096647 A G rs376153386 SORBS1 Synonymous SNV D1090D 0.003 0 0 7 3 0 0.018 0 0 0 0 0 0.026 131833 chr10 97396939 97396939 C G ALDH18A1 Nonsynonymous SNV E46Q 0.003 0 0 7 3 0 0.018 0 0 0 0 0 25.9 131834 chr10 99504577 99504577 C G rs376432154 ZFYVE27 Synonymous SNV S22S 0 0.005 0 0 0 2 0 0 0 0 0 0 3.735 131835 chr11 67067072 67067072 G A rs975224613 ANKRD13D Synonymous SNV S290S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 131836 chr1 47075337 47075337 A T rs537146848 MOB3C Nonsynonymous SNV I266N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 131837 chr11 43284374 43284374 T C rs11604143 HNRNPKP3 0 0 0.024 0 0 0 0 7 0 0 0 0 2.349 131838 chr11 128773362 128773362 A G rs536583683 C11orf45 Nonsynonymous SNV W61R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.954 131839 chr11 43920483 43920483 A G rs191646185 SEC14L1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.542 131840 chr11 124180371 124180371 T C OR8D1 Nonsynonymous SNV M98V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.943 131841 chr11 124310625 124310625 C T rs140861308 OR8B8 Synonymous SNV A119A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.19 131842 chrX 47271844 47271844 T A rs1010552363 ZNF157 Nonsynonymous SNV H124Q 0.003 0.003 0 0 4 1 0 0 1 0 0 0 14.71 131843 chrX 47435581 47435581 G A rs150248483 SYN1 Synonymous SNV I369I 0.001 0.005 0.007 0 1 2 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 3.086 131844 chr11 46387852 46387852 C G rs200746859 DGKZ Nonsynonymous SNV P16A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.442 131845 chr11 103019335 103019335 C T rs772439717 DYNC2H1 Nonsynonymous SNV R979W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.6 131846 chrX 49958047 49958047 C A rs781814079 AKAP4 Nonsynonymous SNV K439N 0.003 0.003 0 0 4 1 0 0 1 0 0 0 4.146 131847 chr10 81053248 81053248 G A rs146995829 ZMIZ1 Synonymous SNV T356T 0.008 0.01 0.007 4 9 4 0.01 2 0 0 0 0 10.7 131848 chrX 50341413 50341413 G A rs140760349 SHROOM4 Synonymous SNV A1355A 0.003 0.003 0 0 4 1 0 0 1 0 0 0 12.93 131849 chr11 46894698 46894698 T A rs144169411 LRP4 Synonymous SNV T1512T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.56 131850 chr1 55075061 55075061 G A rs146179147 FAM151A Synonymous SNV G546G 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 5.071 131851 chrX 64737989 64737997 TCTTCATCA - rs766197666 LAS1L D540_E542del 0.008 0.003 0 2 9 1 0.005 0 3 0 0 1 131852 chr11 104901916 104901916 C T rs149065878 CASP1 Synonymous SNV R122R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 5.364 131853 chr11 125891300 125891300 G A rs747564175 CDON Synonymous SNV N64N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.656 131854 chr11 71259816 71259816 C T rs12791610 KRTAP5-9 Nonsynonymous SNV P38L 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 18.3 131855 chr11 10800307 10800307 C T rs369103252 CTR9 Synonymous SNV S1035S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.23 131856 chr11 71907134 71907134 T C FOLR1 Synonymous SNV Y229Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 131857 chr11 71941033 71941033 G C rs17847215 INPPL1 Nonsynonymous SNV K303N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 16.35 131858 chr11 1272832 1272832 G C rs752110609 MUC5B Nonsynonymous SNV V4908L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.06 131859 chr11 17596304 17596304 C T rs147247967 OTOG Synonymous SNV C789C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 12.85 131860 chr11 128842742 128842742 C T rs139276969 ARHGAP32 Nonsynonymous SNV R857H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.715 131861 chrX 76937706 76937706 A G rs140476563 ATRX Synonymous SNV D976D 0.004 0.013 0 3 5 5 0.008 0 0 1 0 1 Likely benign 0.221 131862 chrX 100531459 100531461 TCA - rs777074320 TAF7L D249del 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 131863 chr11 1018334 1018334 C T rs200240449 MUC6 Synonymous SNV T1489T 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 10.45 131864 chr11 48387184 48387184 G A OR4C5 Synonymous SNV F278F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 131865 chrX 106796118 106796128 AAGTTTCTGCT - FRMPD3 K235Sfs*44 0.001 0.003 0 0 1 1 0 0 0 0 0 0 131866 chr11 1018440 1018440 A G rs796873106 MUC6 Nonsynonymous SNV L1454S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 131867 chr11 1018442 1018442 G T rs796100919 MUC6 Synonymous SNV S1453S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 131868 chr11 1977619 1977619 G - rs760804762 MRPL23 G145Afs*63 0.002 0 0 0 2 0 0 0 0 0 0 0 131869 chr1 78047503 78047503 C T rs36003200 ZZZ3 Synonymous SNV L128L 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 4.054 131870 chr10 103920080 103920080 A T NOLC1 Nonsynonymous SNV E370V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 131871 chr11 233419 233419 G A rs202072152 SIRT3 Nonsynonymous SNV R133W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.1 131872 chr11 118770797 118770797 G A BCL9L Nonsynonymous SNV P1079S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 131873 chr11 108382013 108382013 T G rs969838832 EXPH5 Nonsynonymous SNV E1219D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.5 131874 chr11 1085993 1085993 C T rs372225050 MUC2 Nonsynonymous SNV H945Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.73 131875 chr10 105957693 105957693 G A rs138274272 CFAP43 Nonsynonymous SNV T400I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 20.6 131876 chr11 31312237 31312237 T C rs377395170 DCDC1 Nonsynonymous SNV Q306R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.719 131877 chr11 123847768 123847768 G A OR10S1 Synonymous SNV L211L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.026 131878 chr11 114577388 114577388 C T NXPE2 Synonymous SNV A472A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.03 131879 chr10 116621260 116621260 A G rs150112246 FAM160B1 Synonymous SNV A753A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.592 131880 chr1 97915615 97915615 G A rs3918289 DPYD Synonymous SNV N635N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.025 131881 chr11 118130816 118130816 C T MPZL2 Synonymous SNV R179R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 15 131882 chr11 118520880 118520880 C T rs377169216 PHLDB1 Synonymous SNV H1204H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.32 131883 chr12 100606228 100606228 G A ACTR6 Synonymous SNV K224K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.1 131884 chr11 119229758 119229758 T C rs45533837 USP2 Nonsynonymous SNV N140S 0.008 0.003 0.003 6 9 1 0.015 1 0 0 0 0 0.001 131885 chr10 102054797 102054797 G A rs140093625 PKD2L1 Synonymous SNV F433F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.01 131886 chr12 102131655 102131655 T C rs143228358 SYCP3 Nonsynonymous SNV Q20R 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 5.465 131887 chr1 109456966 109456966 G A rs754166364 GPSM2 Nonsynonymous SNV R400H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 34 131888 chr12 102160048 102160048 A G rs149718548 GNPTAB Nonsynonymous SNV I478T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.043 131889 chr12 102589727 102589728 AG - rs774571679 PARPBP 0.003 0 0 2 3 0 0.005 0 0 0 0 0 131890 chr11 381735 381735 C T B4GALNT4 Synonymous SNV S1021S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 131891 chr10 124175436 124175436 G A rs142473166 PLEKHA1 Nonsynonymous SNV S177N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.6 131892 chr10 105147305 105147305 C G rs771416351 TAF5 Nonsynonymous SNV P624A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.64 131893 chr10 1245938 1245938 G A rs773372364 ADARB2 Nonsynonymous SNV A611V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.3 131894 chr11 108178702 108178702 G C rs148064985 ATM Nonsynonymous SNV R1918T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 22.1 131895 chr11 57114138 57114138 C T rs762308207 P2RX3 Synonymous SNV Y80Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 131896 chr11 1093173 1093173 C A MUC2 Synonymous SNV T1664T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 131897 chr11 133796917 133796917 C T IGSF9B Synonymous SNV L567L 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 13.1 131898 chr10 129681995 129681995 C T rs757465969 CLRN3 Nonsynonymous SNV G125E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 131899 chr1 116574034 116574034 G A rs200739836 SLC22A15 Nonsynonymous SNV S259N 0.001 0.003 0 7 1 1 0.018 0 0 0 0 0 15.41 131900 chr11 47008768 47008768 A G rs150919488 C11orf49 Nonsynonymous SNV H19R 0.003 0.005 0 4 4 2 0.01 0 0 0 0 1 25.6 131901 chr11 4703848 4703848 A G rs148831989 OR51E2 Nonsynonymous SNV S32P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.922 131902 chr10 134218287 134218287 G A rs199872085 PWWP2B Nonsynonymous SNV E95K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.248 131903 chr11 59557993 59557993 C T rs148104403 STX3 Synonymous SNV S97S 0.004 0.003 0.014 2 5 1 0.005 4 0 0 0 0 Benign 17.77 131904 chr11 125853982 125853982 C T rs374048433 CDON Nonsynonymous SNV R927H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 131905 chr11 18118335 18118335 T G rs770948110 SAAL1 Nonsynonymous SNV K106Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 131906 chr1 145562880 145562880 G C rs782195780 ANKRD35 Synonymous SNV L766L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.149 131907 chr10 135081583 135081583 G C rs575623338 ADAM8 Synonymous SNV P636P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.083 131908 chr10 135085121 135085121 C T rs1053935083 ADAM8 Nonsynonymous SNV A360T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.495 131909 chr1 150471056 150471056 C T rs116476409 TARS2 Synonymous SNV A309A 0.008 0 0 2 9 0 0.005 0 0 0 0 0 Benign 15.22 131910 chr11 1260781 1260781 C G MUC5B Nonsynonymous SNV L1190V 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 10.71 131911 chr11 18735537 18735537 G A rs138337552 IGSF22 Nonsynonymous SNV R653C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26 131912 chr11 60621184 60621184 G A rs145585912 PTGDR2 Synonymous SNV N4N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.285 131913 chr11 12904648 12904648 C T rs148823826 TEAD1 Synonymous SNV L225L 0 0.008 0.007 3 0 3 0.008 2 0 0 0 0 Benign/Likely benign 16.72 131914 chr10 120514159 120514159 G C CACUL1 Nonsynonymous SNV P39R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 131915 chr11 61042034 61042034 C A rs148581850 VWCE Synonymous SNV R506R 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 17.67 131916 chr11 61730116 61730116 C A rs578075838 BEST1 Nonsynonymous SNV T410N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.382 131917 chr10 123842634 123842634 G C TACC2 Nonsynonymous SNV E207Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.325 131918 chr11 2291127 2291127 C A rs199617658 ASCL2 Nonsynonymous SNV A146S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 0.857 131919 chr10 24813282 24813282 G A rs2297329 KIAA1217 Synonymous SNV T512T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.999 131920 chr11 62415592 62415592 G A rs770126654 INTS5 Nonsynonymous SNV R654C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 131921 chr1 153012765 153012765 T C rs1846857 SPRR2D Nonsynonymous SNV T20A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.017 131922 chr10 12940477 12940477 G A rs11545579 CCDC3 Nonsynonymous SNV A251V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 15.56 131923 chr12 124272481 124272481 C T rs567684796 DNAH10 Nonsynonymous SNV R457W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 131924 chr1 155029753 155029753 G A rs746222136 ADAM15 Nonsynonymous SNV R423Q 0 0 0 2 0 0 0.005 0 0 0 0 0 16.39 131925 chr11 490027 490027 C T rs368450071 PTDSS2 Synonymous SNV S211S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 131926 chr11 18017409 18017409 G A rs142771913 SERGEF Stop gain R186X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 39 131927 chr11 18034547 18034547 T C SERGEF Nonsynonymous SNV E4G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.73 131928 chr12 129294526 129294526 - T SLC15A4 Frameshift insertion F325Ifs*49 0.003 0.003 0 0 4 1 0 0 0 0 0 0 131929 chr11 64595044 64595044 C A rs754766102 CDC42BPG Nonsynonymous SNV G1369C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 131930 chr10 34648170 34648170 C T rs1029796886 PARD3 Nonsynonymous SNV A601T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 131931 chr11 64702253 64702253 G A rs200288260 GPHA2 Nonsynonymous SNV R128C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 131932 chr10 44104080 44104080 G A rs768987467 ZNF485 Nonsynonymous SNV D15N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 131933 chr12 132624440 132624440 G A rs373307850 DDX51 Nonsynonymous SNV T602I 0.003 0 0 0 3 0 0 0 0 0 0 0 5.64 131934 chr12 132628396 132628396 C T rs779934378 DDX51 Synonymous SNV G121G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.451 131935 chr12 132636059 132636059 C T rs368698447 NOC4L Synonymous SNV F368F 0.003 0 0 0 3 0 0 0 0 0 0 0 8.312 131936 chr11 4148026 4148026 A G RRM1 Nonsynonymous SNV N140S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 131937 chr10 135212010 135212010 T C MTG1 Synonymous SNV N118N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.614 131938 chr11 22646689 22646689 T G FANCF Nonsynonymous SNV E223A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.82 131939 chr11 4566684 4566684 G A rs147140643 OR52M1 Stop gain W88X 0.003 0 0 0 3 0 0 0 0 0 0 0 36 131940 chr10 48370795 48370795 C T rs140711392 ZNF488 Nonsynonymous SNV P88L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.38 131941 chr10 49393649 49393649 G A rs200435407 FRMPD2 Nonsynonymous SNV P744L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 131942 chr10 49446120 49446120 G T rs144159326 FRMPD2 Nonsynonymous SNV L255I 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 2.537 131943 chr11 66281917 66281917 G A rs145718265 BBS1 Nonsynonymous SNV R67H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 131944 chr10 19896807 19896807 - A rs766936322 MALRD1 Frameshift insertion L2017Afs*2 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 131945 chr10 50311825 50311825 C T rs150667147 VSTM4 Nonsynonymous SNV A180T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.442 131946 chr10 21805819 21805819 - GCC rs749533809 SKIDA1 A318_G319insA 0.003 0 0 1 3 0 0.003 0 0 0 0 0 131947 chr11 28119309 28119309 T G rs144868444 KIF18A Nonsynonymous SNV Q62H 0.014 0.01 0.007 0 17 4 0 2 0 0 0 0 20.1 131948 chr10 24722057 24722057 G A rs145086883 KIAA1217 Synonymous SNV S229S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.75 131949 chr11 67818269 67818269 G A rs75596506 TCIRG1 Nonsynonymous SNV A610T 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.13 131950 chr11 48239004 48239004 T A OR4B1 Nonsynonymous SNV S215T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 23.2 131951 chr10 55600086 55600086 A G PCDH15 Nonsynonymous SNV L1255P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 131952 chr1 167734971 167734971 C T rs779480588 MPZL1 Synonymous SNV A81A 0 0 0 2 0 0 0.005 0 0 0 0 0 12.72 131953 chr10 29822292 29822292 G A rs754274252 SVIL Nonsynonymous SNV A335V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.146 131954 chr11 44089433 44089433 A G rs776308998 ACCS Nonsynonymous SNV M86V 0 0 0 3 0 0 0.008 0 0 0 0 0 7.31 131955 chr11 44129526 44129526 C T rs35455466 EXT2 Synonymous SNV H121H 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Benign/Likely benign 12.16 131956 chr11 44146513 44146513 C T rs35436405 EXT2 Synonymous SNV F339F 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 15.67 131957 chr10 30316773 30316773 G C rs200938429 JCAD Synonymous SNV S768S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 1.718 131958 chr11 44148443 44148443 T C rs11828047 EXT2 Synonymous SNV C372C 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 3.953 131959 chr11 7022243 7022243 C T rs200927262 ZNF214 Nonsynonymous SNV C224Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 131960 chr10 31810290 31810290 A C rs536978134 ZEB1 Nonsynonymous SNV N602T 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.001 131961 chr10 32953076 32953076 T C rs548991731 CCDC7 Synonymous SNV D703D 0.004 0 0 1 5 0 0.003 0 1 0 0 0 5.066 131962 chr10 34620173 34620173 T A rs776481692 PARD3 Nonsynonymous SNV D830V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 25.6 131963 chr11 73748583 73748583 T C C2CD3 Nonsynonymous SNV S1941G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 131964 chr12 4708908 4708908 T C rs35411407 DYRK4 Synonymous SNV S245S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.159 131965 chr12 48192428 48192428 A G rs201981762 HDAC7 Nonsynonymous SNV M72T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.3 131966 chr11 58978647 58978647 G A rs758341650 MPEG1 Synonymous SNV H564H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.11 131967 chr11 60182955 60182955 C T rs143463721 MS4A14 Nonsynonymous SNV P155S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.034 131968 chr11 77823791 77823791 C T rs61995925 ALG8 Nonsynonymous SNV R268Q 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 Benign/Likely benign 35 131969 chr1 183072642 183072642 G A rs754467490 LAMC1 Nonsynonymous SNV E200K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 131970 chr10 73579645 73579645 C T rs759154767 PSAP Nonsynonymous SNV D342N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 131971 chr10 50819567 50819567 G C rs139732053 SLC18A3 Nonsynonymous SNV A261P 0.008 0.021 0 5 9 8 0.013 0 0 0 0 0 13.22 131972 chr11 617423 617423 G T rs374458706 CDHR5 Synonymous SNV G628G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 4.891 131973 chr1 197871915 197871915 G C rs202128014 C1orf53 Nonsynonymous SNV E46Q 0 0 0 3 0 0 0.008 0 0 0 0 0 7.77 131974 chr12 52639477 52639477 C T rs574877871 KRT7-AS 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 8.29 131975 chr1 200860731 200860731 G C rs141245080 INAVA Synonymous SNV R21R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 14.4 131976 chr11 62285721 62285721 G T rs77640901 AHNAK Nonsynonymous SNV P5390T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.2 131977 chr12 52710752 52710752 T C rs763638437 KRT83 Nonsynonymous SNV D269G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27 131978 chr11 62290979 62290979 T C rs117618959 AHNAK Nonsynonymous SNV N3637S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.006 131979 chr11 5510049 5510049 A G rs752314712 OR52D1 Nonsynonymous SNV Y38C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 131980 chr11 62298597 62298597 C A rs79639272 AHNAK Nonsynonymous SNV V1098F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 131981 chr1 201166349 201166349 A T rs562856799 IGFN1 Nonsynonymous SNV N91Y 0 0 0 3 0 0 0.008 0 0 0 0 0 20.9 131982 chr11 62378687 62378687 G T rs76955790 EML3 Synonymous SNV A109A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.68 131983 chr10 90435347 90435347 G A rs79058739 LIPF Nonsynonymous SNV R241H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 33 131984 chr11 93431931 93431931 C A rs72643380 CEP295 Nonsynonymous SNV Q1285K 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 24 131985 chr10 91518638 91518638 T C rs34785987 KIF20B Nonsynonymous SNV I1560T 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 0.001 131986 chr11 9500019 9500019 G A rs768970571 ZNF143 Synonymous SNV P121P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 131987 chr10 95147628 95147628 C T MYOF Nonsynonymous SNV A529T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 131988 chr12 100552807 100552807 G A rs971769850 GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 6.722 131989 chr12 10168042 10168042 T C rs140391913 LOC102724020 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.31 131990 chr12 53897521 53897521 A G rs141294828 TARBP2 Synonymous SNV S96S 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 8.832 131991 chr10 99133362 99133362 G A rs187180200 RRP12 Nonsynonymous SNV R566C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 131992 chr12 102558215 102558215 G - rs771828530 PARPBP 0 0 0.003 0 0 0 0 1 0 0 0 0 131993 chr12 54686364 54686364 C G NFE2 Nonsynonymous SNV E306Q 0.004 0 0 0 5 0 0 0 0 0 0 0 24 131994 chr12 10332198 10332198 G T rs140071448 TMEM52B Nonsynonymous SNV W3C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 131995 chr12 104387233 104387233 T C rs145520946 GLT8D2 Nonsynonymous SNV M273V 0.006 0.013 0.01 7 7 5 0.018 3 0 0 0 0 22.3 131996 chr1 205308914 205308914 G A rs116078922 KLHDC8A Synonymous SNV G133G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.236 131997 chr10 99498296 99498296 C T rs140812293 ZFYVE27 Nonsynonymous SNV A21V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 24.6 131998 chr12 56142553 56142553 G T rs35639297 GDF11 Nonsynonymous SNV G210V 0.011 0.008 0 6 13 3 0.015 0 0 0 0 0 16.83 131999 chr12 108029089 108029089 G A rs374572540 BTBD11 Nonsynonymous SNV V424I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 132000 chr12 108912621 108912621 C A rs146316463 FICD Nonsynonymous SNV T249N 0 0 0.01 0 0 0 0 3 0 0 0 0 26.5 132001 chr10 75412903 75412903 G C rs767628965 SYNPO2L Nonsynonymous SNV Q256E 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.91 132002 chr12 109354764 109354764 G A rs149268005 SVOP Synonymous SNV P118P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 132003 chr11 63143213 63143213 G A rs146423750 SLC22A9 Synonymous SNV K309K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.981 132004 chr10 7773950 7773950 G C rs150260189 ITIH2 Synonymous SNV T546T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.239 132005 chr12 57872345 57872345 G A rs140815973 ARHGAP9 Nonsynonymous SNV P171L 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 0.613 132006 chr11 56380360 56380360 G A rs781521828 OR5M1 Nonsynonymous SNV L207F 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.47 132007 chr11 5247942 5247942 C T rs34621955 HBB Synonymous SNV K60K 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Likely benign 13.8 132008 chr12 6436610 6436610 T C PLEKHG6 Nonsynonymous SNV F589L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.15 132009 chr12 120741817 120741817 G A rs201604619 SIRT4 Synonymous SNV K151K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.38 132010 chr12 66641894 66641894 G T IRAK3 Nonsynonymous SNV E517D 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 13.9 132011 chr11 70333329 70333329 G C SHANK2 Synonymous SNV P435P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.254 132012 chr11 103026168 103026168 C A rs189806840 DYNC2H1 Nonsynonymous SNV L1228I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 132013 chr11 56431466 56431466 - T rs748780736 OR5AR1 Frameshift insertion V105Cfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 132014 chr12 7052990 7052990 C T rs782652720 RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 132015 chr12 124156614 124156614 A G rs137939978 TCTN2 Nonsynonymous SNV I68V 0.002 0.003 0.014 3 2 1 0.008 4 0 0 0 0 Uncertain significance 0.001 132016 chr11 73007975 73007975 C T rs764197368 P2RY6 Nonsynonymous SNV R239C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.4 132017 chr11 55798398 55798398 T C rs751622401 OR5AS1 Synonymous SNV F168F 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.904 132018 chr12 12491466 12491466 G A rs745838989 MANSC1 Synonymous SNV F84F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 132019 chr11 100064228 100064228 A G rs200731024 CNTN5 Nonsynonymous SNV R499G 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 24.1 132020 chr11 100168410 100168410 T A rs141228828 CNTN5 Nonsynonymous SNV L716I 0.015 0.003 0 3 18 1 0.008 0 1 0 0 0 24.6 132021 chr12 125900104 125900104 A T rs143188464 TMEM132B Synonymous SNV I329I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.005 132022 chr11 75134813 75134813 C A rs544434623 KLHL35 Nonsynonymous SNV G496C 0.005 0 0 3 6 0 0.008 0 0 0 0 0 27.2 132023 chr12 129178528 129178528 C T rs765563796 TMEM132C Nonsynonymous SNV T535M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 132024 chr12 12940443 12940443 C T rs117313889 APOLD1 Synonymous SNV L233L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 132025 chr12 80730784 80730784 G A rs753442959 OTOGL Synonymous SNV K1611K 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Uncertain significance 16.66 132026 chr11 76916624 76916624 C A rs111033504 MYO7A Synonymous SNV L1866L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 14.04 132027 chr12 132837590 132837590 C T rs201089693 GALNT9 Synonymous SNV A235A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.37 132028 chr11 68029255 68029257 AGA - rs533381760 C11orf24 L403del 0.001 0 0 0 1 0 0 0 0 0 0 0 132029 chr11 610513 610513 G A rs200310178 PHRF1 Nonsynonymous SNV G1477S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.911 132030 chr12 15037822 15037822 C T rs761418449 MGP 0 0 0.007 0 0 0 0 2 0 0 0 0 7.595 132031 chr12 15073953 15073953 G A rs199978046 ERP27 Synonymous SNV D20D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.534 132032 chr11 82560258 82560258 T C PRCP Nonsynonymous SNV S147G 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.032 132033 chr11 59604689 59604689 C G rs138504371 CBLIF Nonsynonymous SNV G277R 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 32 132034 chr11 59610049 59610049 G A rs763462155 CBLIF Synonymous SNV N126N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.894 132035 chr11 62288649 62288649 G C rs77865984 AHNAK Nonsynonymous SNV L4414V 0.004 0 0 0 5 0 0 0 0 0 0 0 11.51 132036 chr11 85685821 85685821 T C rs745550363 PICALM Nonsynonymous SNV Q524R 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 13.17 132037 chr11 118257193 118257193 G A rs140104100 UBE4A Nonsynonymous SNV R818Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 132038 chr11 118983558 118983558 C G rs148925615 C2CD2L Nonsynonymous SNV S454C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 132039 chr11 62484463 62484463 T C rs200198970 HNRNPUL2 Nonsynonymous SNV Y660C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 132040 chr11 119210380 119210380 G T rs146971652 C1QTNF5 Nonsynonymous SNV N131K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 29.6 132041 chr11 73555894 73555894 T A rs199741536 MRPL48 Nonsynonymous SNV L82M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.903 132042 chr12 29813737 29813737 A G TMTC1 Synonymous SNV Y340Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.1 132043 chr11 608474 608474 G A rs377376312 PHRF1 Synonymous SNV K1006K 0 0.005 0 0 0 2 0 0 0 0 0 0 11.75 132044 chr11 60565924 60565924 T C rs139578350 MS4A10 Nonsynonymous SNV V220A 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 0.026 132045 chr11 640098 640098 - GGCCTCCCCCCGG DRD4 Frameshift insertion S284Gfs*170 0.005 0.005 0 0 6 2 0 0 2 0 0 0 132046 chr11 121498410 121498410 G A rs146742626 SORL1 Nonsynonymous SNV A2171T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 132047 chr11 12234875 12234875 A G rs367660704 MICAL2 Synonymous SNV T255T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.196 132048 chr11 76731362 76731362 G A rs147930782 ACER3 Synonymous SNV R228R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.24 132049 chr12 42866205 42866205 C T rs141743294 PRICKLE1 Synonymous SNV P38P 0.001 0.018 0.003 1 1 7 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.51 132050 chr12 43944811 43944811 C T rs149358464 ADAMTS20 Synonymous SNV E118E 0.006 0.016 0.01 2 7 6 0.005 3 0 0 0 0 9.539 132051 chr12 45833557 45833557 G A rs142698881 ANO6 Nonsynonymous SNV D876N 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.324 132052 chr12 4657882 4657882 G A rs114193736 RAD51AP1 Nonsynonymous SNV V146I 0.003 0 0.014 0 3 0 0 4 0 0 0 0 0.008 132053 chr11 64708093 64708093 C A MAJIN Nonsynonymous SNV G110V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 132054 chr12 48381394 48381394 G A rs150865922 COL2A1 Synonymous SNV S338S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign/Likely benign 16.97 132055 chr11 63531602 63531602 G A rs1035185086 C11orf95 Nonsynonymous SNV P498L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.257 132056 chr11 63885410 63885410 C T rs200955257 FLRT1 Synonymous SNV I557I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.718 132057 chr11 63885467 63885467 C T rs35851449 FLRT1 Synonymous SNV Y576Y 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Benign 6.451 132058 chr11 63970619 63970619 C T rs199591455 STIP1 Synonymous SNV A482A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.89 132059 chr11 64110093 64110093 G T rs559011810 CCDC88B Stop gain E335X 0 0 0 0 0 0 0 0 0 0 0 0 37 132060 chr11 62455627 62455627 A C rs147827827 LRRN4CL Synonymous SNV L118L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.051 132061 chr2 3743321 3743321 C T rs753867733 ALLC Stop gain R176X 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 36 132062 chr11 64573727 64573727 C T rs878855184 MEN1 Synonymous SNV A347A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.36 132063 chr11 6461709 6461709 G T HPX Nonsynonymous SNV L68M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 132064 chr11 85437116 85437116 C T rs141630348 SYTL2 Synonymous SNV T1095T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 10.09 132065 chr13 23909676 23909676 A C rs111540787 SACS Nonsynonymous SNV F2633C 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 132066 chr12 50475133 50475133 G T rs766378044 ASIC1 Nonsynonymous SNV D524Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 132067 chr11 64693211 64693211 A C PPP2R5B Nonsynonymous SNV E2A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.22 132068 chr11 63449159 63449159 C T rs142892358 RTN3 Synonymous SNV S17S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.97 132069 chr11 65685685 65685685 T C rs961495072 C11orf68 Nonsynonymous SNV M43V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 132070 chr11 60264956 60264956 A G rs143911504 MS4A12 Synonymous SNV T55T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.074 132071 chr11 128359269 128359269 C T rs79963544 ETS1 Nonsynonymous SNV A107T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 23.4 132072 chr11 66372854 66372854 C T rs755325271 CCS Synonymous SNV R178R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.3 132073 chr11 128843132 128843132 G A rs376432253 ARHGAP32 Nonsynonymous SNV A727V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 132074 chr11 67077712 67077712 C T rs144774998 SSH3 Nonsynonymous SNV R529W 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 32 132075 chr11 117034552 117034552 G A rs775244470 PAFAH1B2 Nonsynonymous SNV E71K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.6 132076 chr13 32332484 32332484 G A rs61743161 RXFP2 Nonsynonymous SNV A62T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 132077 chr13 32911295 32911295 G A rs28897716 BRCA2 Nonsynonymous SNV D935N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.869 132078 chr11 67817612 67817612 C T rs374467229 TCIRG1 Synonymous SNV P493P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.86 132079 chr11 93837777 93837777 T C rs190076154 HEPHL1 Synonymous SNV D922D 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 1.433 132080 chr11 133779031 133779031 G A rs73032056 IGSF9B Nonsynonymous SNV P1416L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 132081 chr11 134037918 134037918 C T rs61752298 NCAPD3 Synonymous SNV Q1044Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.03 132082 chr11 68031167 68031167 G A rs781424980 C11orf24 Synonymous SNV N23N 0.003 0 0 0 3 0 0 0 0 0 0 0 7.49 132083 chr11 14990439 14990439 A G rs377551213 CALCA Nonsynonymous SNV I111T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 132084 chr12 112227738 112227738 G A rs765448984 ALDH2 Synonymous SNV P137P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 132085 chr12 112617016 112617016 G T rs769772830 HECTD4 Synonymous SNV R3735R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.04 132086 chr12 53573579 53573579 A G rs143436878 CSAD Nonsynonymous SNV L5P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 12.59 132087 chr13 42407602 42407602 C A rs114346671 VWA8 Synonymous SNV R497R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 18.2 132088 chr11 120008188 120008188 G A rs776429239 TRIM29 Synonymous SNV V184V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.008 132089 chr11 67164720 67164720 G A rs200889885 RAD9A Nonsynonymous SNV G239S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.9 132090 chr11 122852349 122852349 G C rs62624971 BSX Nonsynonymous SNV P11A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 9.322 132091 chr11 71806451 71806451 G A rs147106961 LRTOMT Nonsynonymous SNV R137H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.57 132092 chr11 123600436 123600444 TGCACAGGA - ZNF202 D164_Q167delinsE 0.003 0 0 0 3 0 0 0 0 0 0 0 132093 chr12 106461475 106461475 C T rs145399889 NUAK1 Nonsynonymous SNV R364Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 132094 chr13 67800155 67800155 G A PCDH9 Synonymous SNV P806P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.155 132095 chr11 70028676 70028676 C T rs749486832 ANO1 Synonymous SNV N824N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 132096 chr11 64954711 64954711 C A rs192099450 CAPN1 Nonsynonymous SNV A262D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 29.7 132097 chr13 77460188 77460188 G C KCTD12 Nonsynonymous SNV F32L 0.006 0 0 0 7 0 0 0 0 0 0 0 18.75 132098 chr12 109519796 109519796 G A rs778114585 USP30 Nonsynonymous SNV R280Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 132099 chr11 64985069 64985069 A G rs200277146 SLC22A20P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.29 132100 chr13 80055398 80055398 G T NDFIP2 Synonymous SNV A20A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 132101 chr11 65479810 65479810 C T rs779419111 KAT5 Synonymous SNV G24G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.21 132102 chr11 2592628 2592628 C T KCNQ1 Synonymous SNV A226A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.9 132103 chr11 124500377 124500377 A G rs764528371 TBRG1 Nonsynonymous SNV T278A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.071 132104 chr11 70201751 70201751 A G PPFIA1 Synonymous SNV T774T 0 0.003 0 5 0 1 0.013 0 0 0 0 0 4.328 132105 chr11 124756559 124756559 G A rs368417482 ROBO4 Synonymous SNV T720T 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 12.03 132106 chr11 77775098 77775098 C T THRSP Synonymous SNV Y57Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.132 132107 chr12 6436574 6436574 C T rs71584817 PLEKHG6 Nonsynonymous SNV R577C 0 0 0.01 0 0 0 0 3 0 0 0 0 29.2 132108 chr12 6457338 6457338 C T SCNN1A Nonsynonymous SNV E630K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 132109 chr2 43937651 43937651 G T PLEKHH2 Nonsynonymous SNV Q746H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.8 132110 chr14 102463572 102463572 C T rs150953878 DYNC1H1 Synonymous SNV T1255T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 14.48 132111 chr11 75152825 75152825 C T rs773132266 GDPD5 Synonymous SNV Q259Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.93 132112 chr11 31838181 31838181 G A rs495902 PAX6-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 132113 chr2 44050033 44050033 C T rs200378113 ABCG5 Nonsynonymous SNV G456S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 34 132114 chr12 111744895 111744895 G A rs199929446 CUX2 Synonymous SNV T281T 0.009 0.003 0.007 2 10 1 0.005 2 0 0 0 0 Benign 13.02 132115 chr12 111748071 111748071 C T rs73418724 CUX2 Synonymous SNV A433A 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 12.53 132116 chr12 69085797 69085797 G A rs34347775 NUP107 Nonsynonymous SNV R89H 0.007 0.01 0.003 1 8 4 0.003 1 0 0 0 0 Likely benign 16.8 132117 chr12 111856571 111856571 G C rs202080221 SH2B3 Nonsynonymous SNV E208Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.5 132118 chr11 66483393 66483393 G A rs536375005 SPTBN2 Nonsynonymous SNV R73W 0.003 0 0 0 4 0 0 0 0 0 0 0 34 132119 chr14 104208324 104208324 T G PPP1R13B Nonsynonymous SNV D542A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.67 132120 chr11 85438710 85438710 T C rs61908775 SYTL2 Nonsynonymous SNV D564G 0.014 0.016 0.037 3 16 6 0.008 11 0 0 0 0 0.666 132121 chr11 8640434 8640434 G A rs754241754 TRIM66 Nonsynonymous SNV R1152W 0.003 0.01 0 0 3 4 0 0 0 0 0 0 23.2 132122 chr11 3661588 3661588 - T rs397784566 ART5 Frameshift insertion P24Hfs*13 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 132123 chr11 3661589 3661589 - GT rs750786997 ART5 Frameshift insertion P24Tfs*32 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 132124 chr11 13031457 13031457 C A rs765590615 RASSF10 Nonsynonymous SNV R112S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.61 132125 chr2 61149138 61149138 T C REL Nonsynonymous SNV I411T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.092 132126 chr12 11421034 11421093 GTACGTTGGGGCTGGTTTCCTCCTTGTGGGCGTCGTCCTTCTGGCTTTCCTGGAGGAGGT - PRB3 G34Afs*270 0.001 0 0 1 1 0 0.003 0 0 0 0 0 132127 chr12 80199541 80199541 T G rs368465129 PPP1R12A Nonsynonymous SNV N555H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 132128 chr11 831568 831568 C T rs201370893 CRACR2B Synonymous SNV D353D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.54 132129 chr11 78780949 78780949 C T rs58537389 TENM4 Nonsynonymous SNV R14Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 24.4 132130 chr12 91449281 91449281 C A rs781062259 KERA Nonsynonymous SNV D260Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 132131 chr14 20845481 20845481 G C rs375172392 TEP1 Nonsynonymous SNV L1908V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.01 132132 chr11 46407255 46407255 G A rs552730458 CHRM4 Nonsynonymous SNV R285C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 132133 chr11 85707896 85707896 C G rs34013602 PICALM Nonsynonymous SNV A411P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 18.12 132134 chr14 20871609 20871609 T C rs143496437 TEP1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.17 132135 chr11 17631679 17631679 C G OTOG Nonsynonymous SNV P1623R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 132136 chr12 24048832 24048832 A G rs61756180 SOX5 Synonymous SNV H45H 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Benign 0.1 132137 chr11 47183082 47183082 C T rs762568619 C11orf49 Nonsynonymous SNV R288W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 132138 chr11 72414066 72414066 C G ARAP1 Nonsynonymous SNV C378S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.68 132139 chr12 26777287 26777287 T C rs572188130 ITPR2 Nonsynonymous SNV I1023V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.402 132140 chr11 73103462 73103462 C A RELT Nonsynonymous SNV H192N 0.009 0 0 0 10 0 0 0 0 0 0 0 24.8 132141 chr11 8641014 8641014 C T TRIM66 Synonymous SNV K1096K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.36 132142 chr12 99126337 99126337 T C rs369724536 APAF1 Nonsynonymous SNV L1193S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 132143 chr11 74717515 74717515 C G rs759885061 NEU3 Nonsynonymous SNV P455R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.406 132144 chr13 103386923 103386923 - T rs760680906 CCDC168 Frameshift insertion I5375Nfs*40 0 0 0.003 1 0 0 0.003 1 0 0 0 0 132145 chr13 103443372 103443372 T A rs578002041 POGLUT2 Nonsynonymous SNV K321I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 132146 chr12 33031203 33031203 C T rs755215178 PKP2 Nonsynonymous SNV R204H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.423 132147 chr14 23817848 23817848 G A rs775438289 SLC22A17 Nonsynonymous SNV R187W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 132148 chr12 100453079 100453079 C T rs200286047 UHRF1BP1L Nonsynonymous SNV R659K 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 24.2 132149 chr12 10074761 10074761 G A CLEC2A Synonymous SNV F70F 0 0.01 0 1 0 4 0.003 0 0 0 0 0 11.14 132150 chr13 20716194 20716194 C T rs201955819 GJA3 Nonsynonymous SNV G412R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 8.221 132151 chr13 20716317 20716317 C T rs141882615 GJA3 Nonsynonymous SNV A371T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.874 132152 chr11 31312205 31312205 T C rs201039841 DCDC1 Nonsynonymous SNV T317A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.254 132153 chr14 24910937 24910937 T C SDR39U1 Nonsynonymous SNV K91E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.542 132154 chr12 48886732 48886732 A T rs149144972 C12orf54 Nonsynonymous SNV M66L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.45 132155 chr11 34912098 34912098 C T rs138989118 APIP Nonsynonymous SNV D54N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.48 132156 chr14 31833463 31833463 G A rs201317895 HEATR5A Nonsynonymous SNV T668I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 132157 chr2 102836463 102836463 T C rs140532168 IL1RL2 Nonsynonymous SNV I184T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 4.715 132158 chr2 102968129 102968129 C T rs73004242 IL1RL1 Synonymous SNV N473N 0.001 0 0.007 5 1 0 0.013 2 0 0 0 0 9.856 132159 chr12 11214001 11214001 C G rs796631017 TAS2R46 Nonsynonymous SNV R298T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.72 132160 chr12 11214005 11214005 C T rs747861564 TAS2R46 Nonsynonymous SNV V297M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 5.699 132161 chr12 49443979 49443979 G A rs201623566 KMT2D Nonsynonymous SNV P1131L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 12.95 132162 chr12 11214006 11214006 A T rs772092030 TAS2R46 Nonsynonymous SNV H296Q 0.005 0.008 0 0 6 3 0 0 0 0 0 0 0.001 132163 chr12 11214555 11214555 G A rs756985687 TAS2R46 Synonymous SNV F113F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.065 132164 chr2 102979141 102979141 C G rs11465569 IL18R1 Synonymous SNV P7P 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 Benign 2.866 132165 chr2 103343346 103343346 C A rs7601509 MFSD9 Nonsynonymous SNV A68S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign 6.129 132166 chr12 113445710 113445710 C T rs45514594 OAS2 Synonymous SNV T619T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.51 132167 chr12 21967621 21967621 T A ABCC9 Synonymous SNV S1353S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.47 132168 chr11 44080117 44080119 GAA - rs766148678 ACCSL E500del 0.002 0 0 0 2 0 0 0 0 0 0 0 132169 chr11 94926655 94926655 G T rs139919458 SESN3 Nonsynonymous SNV T37K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.41 132170 chr12 271105 271105 C T rs782709463 IQSEC3 Synonymous SNV G516G 0.003 0 0 0 4 0 0 0 0 0 0 0 16.38 132171 chr12 11061345 11061345 T C rs200842780 TAS2R13 Nonsynonymous SNV M185V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 132172 chr11 46690413 46690413 G A rs35619591 ATG13 Nonsynonymous SNV G318R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 26.9 132173 chr13 42874322 42874322 T C AKAP11 Synonymous SNV N480N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 132174 chr13 43528158 43528158 C A rs141261416 EPSTI1 0 0 0.003 0 0 0 0 1 0 0 0 0 26 132175 chr12 102512148 102512148 G A rs149986411 NUP37 Nonsynonymous SNV T50M 0.003 0 0 0 3 0 0 0 0 0 0 0 19.25 132176 chr13 47289718 47289718 A G rs371618136 LRCH1 Nonsynonymous SNV I560V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.992 132177 chr11 47767662 47767662 C G rs200944327 FNBP4 Nonsynonymous SNV E399D 0.003 0 0 0 4 0 0 0 0 0 0 0 18.22 132178 chr13 49771915 49771915 G A rs1024936412 FNDC3A Nonsynonymous SNV V743I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 132179 chr12 32777927 32777927 C T rs61748364 FGD4 Synonymous SNV I336I 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Benign/Likely benign 18.76 132180 chr12 32861094 32861094 C T rs201929226 DNM1L Nonsynonymous SNV T102M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Uncertain significance 26.7 132181 chr12 1137531 1137531 G T ERC1 Synonymous SNV L154L 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 1.721 132182 chr12 113901232 113901232 T C rs202131487 LHX5 Synonymous SNV G324G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.712 132183 chr14 59939756 59939756 G T rs763529998 L3HYPDH Nonsynonymous SNV A160D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 132184 chr12 122231496 122231496 G A RHOF Nonsynonymous SNV P15L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 132185 chr13 99354754 99354754 T C rs8187828 SLC15A1 Synonymous SNV E482E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.011 132186 chr12 12247637 12247637 G A BCL2L14 Nonsynonymous SNV G240R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.17 132187 chr13 99358478 99358478 G A rs8187836 SLC15A1 Synonymous SNV N393N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.789 132188 chr14 100625894 100625894 C A rs781388765 DEGS2 Stop gain E11X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 132189 chr14 69951777 69951777 A G rs567950183 PLEKHD1 Nonsynonymous SNV Y32C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 132190 chr12 49690653 49690653 T G rs367820570 LOC101927267 0.003 0 0 0 3 0 0 0 0 0 0 0 9.384 132191 chr12 5021570 5021570 T C rs749888137 KCNA1 Synonymous SNV S342S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 132192 chr14 102698948 102698948 C T rs145179674 MOK Nonsynonymous SNV A30T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.8 132193 chr12 50367335 50367335 C G rs139985595 AQP6 Nonsynonymous SNV R127G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 132194 chr12 124829314 124829314 C T rs896684336 NCOR2 Nonsynonymous SNV A1505T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.5 132195 chr14 102973303 102973303 C - rs764308929 ANKRD9 Q309Sfs*15 0.001 0 0.003 0 1 0 0 1 0 0 0 0 132196 chr14 103006045 103006045 C T MIR4309 0 0 0.003 0 0 0 0 1 0 0 0 0 0.468 132197 chr14 103566681 103566681 G A rs372770306 EXOC3L4 Nonsynonymous SNV R42H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 132198 chr11 4870138 4870138 G A rs146829053 OR51S1 Nonsynonymous SNV P101S 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 0.203 132199 chr12 56295696 56295696 G A rs148114178 PYM1 Nonsynonymous SNV A191V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.2 132200 chr12 117977550 117977550 C T rs56214831 KSR2 Nonsynonymous SNV R554Q 0.014 0.016 0.014 7 17 6 0.018 4 0 0 0 0 Benign 28 132201 chr12 129566566 129566566 T C rs144217964 TMEM132D Nonsynonymous SNV D554G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 24.8 132202 chr12 120587792 120587792 C T rs187660159 GCN1 Synonymous SNV P1455P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.05 132203 chr12 1963132 1963132 G T rs747069756 CACNA2D4 Nonsynonymous SNV A744D 0.002 0 0 0 2 0 0 0 0 0 0 0 13 132204 chr12 132549307 132549307 A C rs150439516 EP400 Nonsynonymous SNV Q2810P 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 14.47 132205 chr12 52914003 52914003 A C rs1047343874 KRT5 Synonymous SNV S26S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.005 132206 chr12 52942525 52942525 A G rs748427417 KRT71 Nonsynonymous SNV M258T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.3 132207 chr12 133365681 133365681 T C rs377700280 GOLGA3 Nonsynonymous SNV M915V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.224 132208 chr14 79181481 79181481 G C rs138594346 NRXN3 Nonsynonymous SNV R308S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 132209 chr14 20763965 20763965 G A rs139937413 TTC5 Nonsynonymous SNV R249W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 132210 chr12 53460141 53460146 TCCTCT - rs751496444 SPRYD3 E382_E383del 0.002 0 0 0 2 0 0 0 0 0 0 0 132211 chr2 179424720 179424720 G A rs750163793 TTN Synonymous SNV S19648S 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 12.78 132212 chr12 124862883 124862883 C T rs779587671 NCOR2 Synonymous SNV A688A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.4 132213 chr2 179440847 179440847 G A rs773695377 TTN Nonsynonymous SNV R14273W 0 0 0 2 0 0 0.005 0 0 0 0 0 24.7 132214 chr12 54577718 54577718 G A rs2233919 SMUG1 Stop gain Q3X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 132215 chr11 55761880 55761880 T C rs146899581 OR5F1 Synonymous SNV S74S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.025 132216 chr14 21993214 21993214 C T rs558593053 SALL2 Synonymous SNV T214T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.833 132217 chr12 71950407 71950407 A G rs117535164 LGR5 Nonsynonymous SNV H146R 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Likely benign 22.6 132218 chr14 23072927 23072927 G A rs200934381 ABHD4 Nonsynonymous SNV A195T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 22.7 132219 chr12 7354849 7354849 G A rs144508802 PEX5 Nonsynonymous SNV V219M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 132220 chr12 46339033 46339033 A G rs11183245 SCAF11 Synonymous SNV H154H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 4.642 132221 chr12 132328596 132328596 C T rs144599834 MMP17 Nonsynonymous SNV P313L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.23 132222 chr12 56345541 56345541 A G rs61756279 DGKA Nonsynonymous SNV I167V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.3 132223 chr12 47170764 47170764 G A rs11183610 SLC38A4 Nonsynonymous SNV T366M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 132224 chr12 56558497 56558497 T C rs770346083 SMARCC2 Nonsynonymous SNV N1053S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.042 132225 chr12 132502811 132502811 C T rs139738991 EP400 Synonymous SNV H1389H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.07 132226 chr12 132547069 132547071 GCA - rs751944198 EP400 Q2748del 0.002 0 0 0 2 0 0 0 0 0 0 0 132227 chr12 132626895 132626895 C T rs35650459 DDX51 Nonsynonymous SNV R248Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.89 132228 chr12 47472693 47472693 C T rs35667451 AMIGO2 Synonymous SNV V31V 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 9.213 132229 chr12 4764053 4764053 C T rs771679812 NDUFA9 Nonsynonymous SNV R95C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 132230 chr2 179914584 179914584 C T rs745674534 CCDC141 Nonsynonymous SNV V29I 0 0 0 2 0 0 0.005 0 0 0 0 0 18.96 132231 chr12 57113535 57113535 T C rs749462040 NACA Synonymous SNV K593K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.595 132232 chr12 57422575 57422575 T C rs148841648 MYO1A Synonymous SNV K1032K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 132233 chr11 58980257 58980257 C T rs377026755 MPEG1 Nonsynonymous SNV E28K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.228 132234 chr12 57626244 57626244 T C rs1025511284 SHMT2 Synonymous SNV T180T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.995 132235 chr15 22929737 22929737 C T rs149476553 CYFIP1 Synonymous SNV C15C 0.008 0.01 0.003 2 9 4 0.005 1 0 0 0 0 16.97 132236 chr11 59282651 59282651 C T rs76276934 OR4D9 Nonsynonymous SNV T89I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.897 132237 chr11 59282685 59282685 A G rs76175424 OR4D9 Synonymous SNV Q100Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 132238 chr11 59282838 59282838 G A rs75125922 OR4D9 Synonymous SNV G151G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.965 132239 chr11 59282960 59282960 C G rs113146895 OR4D9 Nonsynonymous SNV T192S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.98 132240 chr11 59283299 59283299 T C rs79922105 OR4D9 Nonsynonymous SNV L305P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.49 132241 chr11 59481017 59481017 T A rs114860238 OR10V1 Nonsynonymous SNV Q101L 0.002 0 0 0 2 0 0 0 0 0 0 0 26 132242 chr12 45744455 45744455 G A rs149777468 ANO6 Nonsynonymous SNV R254H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.3 132243 chr12 46322226 46322226 C T rs777971574 SCAF11 Nonsynonymous SNV E420K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 132244 chr12 9307415 9307415 G A rs145625112 PZP Nonsynonymous SNV R1191C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.2 132245 chr11 60497107 60497107 C T MS4A18 Nonsynonymous SNV L107F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 132246 chr11 60621105 60621105 T C PTGDR2 Nonsynonymous SNV I31V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.698 132247 chr2 192267400 192267400 A G rs138223215 MYO1B Nonsynonymous SNV K809E 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 132248 chr11 60637062 60637062 G A rs199566234 ZP1 Nonsynonymous SNV R124H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 132249 chr11 615362 615362 C T rs771756018 IRF7 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 132250 chr14 54868243 54868246 CTAT - CDKN3 S33Cfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 132251 chr12 7310635 7310635 C T rs142128898 CLSTN3 Synonymous SNV S943S 0.006 0.013 0.003 2 7 5 0.005 1 0 0 0 0 17.39 132252 chr12 53162655 53162655 C T rs150255824 KRT76 Nonsynonymous SNV G587S 0.005 0.01 0.003 2 6 4 0.005 1 0 0 0 0 7.311 132253 chr14 58956941 58956941 C T rs371424977 KIAA0586 Nonsynonymous SNV H1141Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 132254 chr2 207804330 207804332 CCT - rs774086973 CPO P3del 0 0 0 2 0 0 0.005 0 0 0 0 0 132255 chr14 59113334 59113334 G A rs750235655 DACT1 Nonsynonymous SNV V628M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 132256 chr11 58347029 58347029 C G rs200108858 ZFP91 Nonsynonymous SNV P92R 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 21.5 132257 chr14 60582726 60582726 G A rs137987112 PCNX4 Nonsynonymous SNV S275N 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 0.001 132258 chr11 62458118 62458118 G C BSCL2 Nonsynonymous SNV S400R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.185 132259 chr12 520944 520944 G A rs117439611 CCDC77 Nonsynonymous SNV V24I 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.002 132260 chr2 211456596 211456596 C T CPS1 Nonsynonymous SNV A330V 0 0 0 2 0 0 0.005 0 0 0 0 0 27.7 132261 chr15 43622105 43622105 C T rs201746707 LCMT2 Nonsynonymous SNV E195K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 27.7 132262 chr15 43819730 43819730 C T rs200678338 MAP1A Nonsynonymous SNV P2020L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28.6 132263 chr15 44088405 44088405 G T rs117143230 SERINC4 Nonsynonymous SNV A119D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25 132264 chr2 214215291 214215291 G A rs776497000 SPAG16 Synonymous SNV R228R 0 0 0 3 0 0 0.008 0 0 0 0 0 11.91 132265 chr11 59283152 59283152 A G rs150341599 OR4D9 Nonsynonymous SNV Y256C 0.003 0 0 0 4 0 0 0 0 0 0 0 25.5 132266 chr12 52709122 52709122 C G rs148757217 KRT83 Nonsynonymous SNV C423S 0.007 0.008 0.017 2 8 3 0.005 5 0 0 0 0 Benign 17.34 132267 chr11 63065164 63065164 G A rs146046305 SLC22A10 Synonymous SNV A265A 0.009 0.01 0.02 2 11 4 0.005 6 0 0 0 0 10.7 132268 chr13 114174933 114174933 G A rs370387220 TMCO3 Nonsynonymous SNV D346N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.9 132269 chr11 63176187 63176187 A G rs146027075 SLC22A9 Nonsynonymous SNV I479M 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.009 132270 chr12 52911395 52911395 G A rs149467228 KRT5 Synonymous SNV A357A 0.009 0.01 0.014 4 10 4 0.01 4 0 0 0 0 Benign 6.988 132271 chr13 114514718 114514718 C T rs747952896 TMEM255B Nonsynonymous SNV R227C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 12.59 132272 chr12 52967205 52967205 C G rs750109920 KRT74 Nonsynonymous SNV K119N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 132273 chr14 70245930 70245932 CAT - rs764251900 SLC10A1 Y238_V239delinsF 0 0 0.003 0 0 0 0 1 0 0 0 0 132274 chr14 70633448 70633448 G A rs771644779 SLC8A3 Synonymous SNV V564V 0 0 0.007 0 0 0 0 2 0 0 0 0 2.369 132275 chr12 56558438 56558438 C T rs145318577 SMARCC2 Nonsynonymous SNV V1073M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.8 132276 chr11 60621127 60621127 G A rs147157938 PTGDR2 Synonymous SNV H23H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 1.423 132277 chr12 93772075 93772075 C G rs370319394 NUDT4P2 0.001 0 0 0 1 0 0 0 0 0 0 0 8.061 132278 chr12 48439141 48439141 C T rs201344041 SENP1 Synonymous SNV R633R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.36 132279 chr11 64135708 64135708 G C rs200128132 RPS6KA4 Synonymous SNV A392A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.54 132280 chr2 219299262 219299262 G A rs146529113 VIL1 Nonsynonymous SNV R505Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 26.5 132281 chr2 219695525 219695525 A G rs1032715567 PRKAG3 Nonsynonymous SNV L58S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.017 132282 chr12 57432779 57432786 GATACCTC - rs763062282 MYO1A R447Pfs*6 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 132283 chr14 75323618 75323618 A C rs370216245 PROX2 Synonymous SNV S271S 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.714 132284 chr15 54590080 54590080 G A UNC13C Nonsynonymous SNV E1354K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 132285 chr11 6479487 6479487 T C rs41275192 TRIM3 Synonymous SNV L57L 0.007 0.008 0.01 4 8 3 0.01 3 0 0 0 0 0.485 132286 chr12 49692116 49692116 T G rs773391662 PRPH Nonsynonymous SNV S465A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.6 132287 chr12 99638120 99638120 T C rs377129108 ANKS1B Nonsynonymous SNV R807G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.57 132288 chr13 28009582 28009582 C T rs183681517 GTF3A Nonsynonymous SNV R316C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.4 132289 chr15 56739063 56739063 C T rs17238740 MNS1 Synonymous SNV K144K 0.02 0.005 0.017 7 23 2 0.018 5 0 0 0 0 16.58 132290 chr14 77929028 77929028 T C rs61755658 AHSA1 Nonsynonymous SNV V133A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.44 132291 chr2 220412496 220412496 C T rs375582524 TMEM198 Synonymous SNV S145S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 14.07 132292 chr12 55356420 55356420 G A rs148518799 TESPA1 Nonsynonymous SNV T212M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.102 132293 chr13 103400155 103400155 A G CCDC168 Synonymous SNV S964S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.453 132294 chr11 62554296 62554296 C G TAF6L Nonsynonymous SNV P466R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 132295 chr12 65461557 65461557 G A rs367787979 WIF1 Synonymous SNV G184G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.766 132296 chr14 91942791 91942791 C T rs144905653 PPP4R3A Synonymous SNV L118L 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 14.48 132297 chr13 37441408 37441408 A T rs770716081 SMAD9 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 20.8 132298 chr11 65638718 65638718 C T rs2234462 EFEMP2 Nonsynonymous SNV G93S 0.009 0 0 2 10 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.05 132299 chr12 56088292 56088292 G A ITGA7 Synonymous SNV L316L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.19 132300 chr11 6568233 6568233 G C rs184654382 DNHD1 Nonsynonymous SNV G2022R 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Benign 0.16 132301 chr11 63670215 63670215 C A rs56291692 MARK2 Synonymous SNV P459P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 13.96 132302 chr11 66002807 66002807 G A rs140998295 PACS1 Nonsynonymous SNV V714I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.1 132303 chr13 111290803 111290803 C T rs145151789 NAXD Nonsynonymous SNV R370W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 132304 chr11 66192533 66192533 G A rs144132334 NPAS4 Synonymous SNV E514E 0.009 0 0 2 10 0 0.005 0 0 0 0 0 Benign 1.14 132305 chr14 95906020 95906020 C T SYNE3 Synonymous SNV V725V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.102 132306 chr11 6647497 6647497 G A rs113091644 DCHS1 Nonsynonymous SNV T2160I 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 13.02 132307 chr12 7045895 7045897 CAG - ATN1 Q502del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 132308 chr13 113826007 113826007 T C PROZ Nonsynonymous SNV L264P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 132309 chr11 6661447 6661447 G A rs117002568 DCHS1 Synonymous SNV N466N 0.017 0.008 0.017 6 20 3 0.015 5 1 0 0 0 1.172 132310 chr13 114537698 114537698 G A rs28363802 GAS6-AS1 0.012 0.013 0.003 5 14 5 0.013 1 0 0 0 0 4.902 132311 chr11 67817705 67817705 G A rs749654126 TCIRG1 Synonymous SNV L524L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.98 132312 chr13 73346906 73346906 G A rs750328292 DIS3 Synonymous SNV H314H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.48 132313 chr12 6637375 6637375 C G rs749693715 NCAPD2 Nonsynonymous SNV F1060L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28.8 132314 chr13 76395506 76395506 A G rs760006861 LMO7 Nonsynonymous SNV R474G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.75 132315 chr12 78225411 78225411 C T rs754878822 NAV3 Nonsynonymous SNV A57V 0.004 0 0 0 5 0 0 0 0 0 0 0 17.27 132316 chr15 75500608 75500608 - TCCAGC rs745804550 C15orf39 P747_V748insAP 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 132317 chr15 25213097 25213097 G C rs148434270 SNURF Nonsynonymous SNV R43S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.9 132318 chr15 25492385 25492385 C T rs544037220 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 0.022 132319 chr15 77907566 77907566 T C rs774346087 LINGO1 Nonsynonymous SNV N228S 0.006 0.018 0 6 7 7 0.015 0 0 0 0 0 0.09 132320 chr11 70178132 70178132 C T rs754774570 PPFIA1 Synonymous SNV L382L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 132321 chr12 8200557 8200557 - CAG rs750320779 FOXJ2 Q306_P307insQ 0.005 0.005 0 0 6 2 0 0 0 0 0 0 132322 chr11 70331576 70331576 C T rs543988574 SHANK2 Nonsynonymous SNV V1020I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.451 132323 chr13 99483632 99483632 T C DOCK9 Synonymous SNV G1516G 0.003 0 0 0 3 0 0 0 0 0 0 0 2.885 132324 chr12 72962370 72962370 A T rs138796278 TRHDE Nonsynonymous SNV T644S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 132325 chr13 28542979 28542979 C T CDX2 Synonymous SNV L55L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.63 132326 chr12 74932045 74932045 A G ATXN7L3B Synonymous SNV A51A 0 0 0 0 0 0 0 0 0 0 0 0 14.4 132327 chr14 100141815 100141815 G A HHIPL1 Nonsynonymous SNV G734D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.046 132328 chr11 72632889 72632889 A G rs143760818 FCHSD2 Nonsynonymous SNV L271S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 132329 chr14 102916966 102916966 C A rs139247564 TECPR2 Nonsynonymous SNV S1129Y 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Uncertain significance 30 132330 chr12 96688826 96688826 T C rs370277455 CDK17 Synonymous SNV P316P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.843 132331 chr15 41796558 41796558 A C LTK Synonymous SNV R646R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 132332 chr12 58121441 58121441 C T rs779621532 AGAP2-AS1 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.853 132333 chr12 91502444 91502444 A G LUM Nonsynonymous SNV S105P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.85 132334 chr14 105995769 105995769 A G TMEM121 Nonsynonymous SNV S200G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 132335 chr11 7981582 7981582 A C NLRP10 Nonsynonymous SNV F526C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 132336 chr15 90119276 90119276 C G rs374963310 TICRR Synonymous SNV A153A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 132337 chr15 43817604 43817604 C T rs182020053 MAP1A Synonymous SNV S1311S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 11.35 132338 chr13 49281763 49281763 C T rs150160388 CYSLTR2 Synonymous SNV H270H 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Benign 0.445 132339 chr12 974298 974298 C T rs556259173 WNK1 Nonsynonymous SNV S721L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.32 132340 chr11 85347215 85347215 G T rs141542003 TMEM126B Nonsynonymous SNV G166V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 132341 chr12 9845709 9845709 A G rs142016017 CLEC2D Nonsynonymous SNV M181V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.431 132342 chr11 8645951 8645951 C A TRIM66 Nonsynonymous SNV V816L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.3 132343 chr14 20940468 20940468 T C rs200560458 PNP Nonsynonymous SNV Y5H 0.009 0.013 0 4 11 5 0.01 0 0 0 0 0 6.732 132344 chr15 51790768 51790768 G A DMXL2 Synonymous SNV S1551S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.3 132345 chr12 70352077 70352077 A G rs564594009 MYRFL Nonsynonymous SNV M874V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 132346 chr11 73879506 73879506 A C rs145021728 C2CD3 Nonsynonymous SNV S70A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 132347 chr13 113980270 113980270 C - rs759637154 GRTP1 W233Cfs*35 0.003 0 0 2 3 0 0.005 0 0 0 0 0 132348 chr13 96238353 96238353 C A rs763319111 DZIP1 Nonsynonymous SNV K733N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 132349 chr11 92624002 92624002 C T rs369740689 FAT3 Nonsynonymous SNV P4466L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 132350 chr3 12856665 12856665 C T rs373312580 CAND2 Synonymous SNV D251D 0.001 0 0 5 1 0 0.013 0 0 0 0 0 10.76 132351 chr12 76424796 76424796 A G rs1002832360 PHLDA1 Synonymous SNV C242C 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 12.53 132352 chr11 75115798 75115798 C T rs560757181 RPS3 Synonymous SNV H81H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.443 132353 chr12 76750451 76750451 T A OSBPL8 Nonsynonymous SNV Q806L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 132354 chr16 1128895 1128895 G A rs4988479 SSTR5 Synonymous SNV T9T 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 6.537 132355 chr15 58983876 58983878 TTT - rs779351718 HSP90AB4P 0 0 0.007 0 0 0 0 2 0 0 0 0 132356 chr15 59323409 59323409 A G rs148684989 RNF111 Nonsynonymous SNV N130D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.38 132357 chr14 23549039 23549039 G A rs199754379 ACIN1 Nonsynonymous SNV A520V 0.004 0.01 0 4 5 4 0.01 0 0 0 0 0 21.2 132358 chr12 85450243 85450243 G A rs140862066 LRRIQ1 Nonsynonymous SNV G558R 0.014 0.008 0 1 16 3 0.003 0 0 0 0 0 1.485 132359 chr15 69076804 69076804 T C ANP32A Nonsynonymous SNV K153R 0 0 0.007 0 0 0 0 2 0 0 0 0 16.17 132360 chr3 27216299 27216299 C G rs368554285 NEK10 Nonsynonymous SNV S156T 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 23.8 132361 chr14 30396699 30396699 A G rs572057574 PRKD1 Nonsynonymous SNV L7P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 23.8 132362 chr14 33205051 33205051 G A rs140250281 AKAP6 Nonsynonymous SNV G1112E 0.006 0 0 4 7 0 0.01 0 0 0 0 0 27.3 132363 chr15 73616159 73616159 C T rs62641689 HCN4 Nonsynonymous SNV V759I 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.74 132364 chr12 108096718 108096718 T C rs61730727 PWP1 Synonymous SNV V209V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 8.38 132365 chr12 108145676 108145676 C T rs11830999 PRDM4 Synonymous SNV T214T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.03 132366 chr16 1614070 1614070 G A rs200653061 IFT140 Synonymous SNV A665A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 10.73 132367 chr12 108169083 108169083 C T rs78204295 ASCL4 Nonsynonymous SNV L31F 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 23.4 132368 chr13 39262999 39262999 C T rs141821695 FREM2 Synonymous SNV S506S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 8.422 132369 chr13 113852552 113852552 T C rs149143185 PCID2 Synonymous SNV Q51Q 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 1 0.589 132370 chr15 75014825 75014825 C T rs199734551 CYP1A1 Nonsynonymous SNV R205Q 0 0 0.007 0 0 0 0 2 0 0 0 0 3.29 132371 chr15 75015123 75015123 G - rs779460432 CYP1A1 R106Gfs*37 0.001 0 0.007 0 1 0 0 2 0 0 0 0 132372 chr15 75015124 75015124 G T rs745879982 CYP1A1 Synonymous SNV G105G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.632 132373 chr12 110353335 110353335 A C rs769967172 TCHP Nonsynonymous SNV Q483P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.18 132374 chr13 46287637 46287637 C T rs77438918 CBY2 Synonymous SNV H132H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.612 132375 chr13 46287995 46287995 G A rs112104044 CBY2 Nonsynonymous SNV E252K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 132376 chr12 11091618 11091618 G A rs142263768 TAS2R14 Synonymous SNV F63F 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 2.846 132377 chr14 21215972 21215972 G A rs149270684 EDDM3A Nonsynonymous SNV R78H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.329 132378 chr13 103388349 103388349 T C rs989233758 CCDC168 Nonsynonymous SNV I4900V 0.005 0 0 0 6 0 0 0 0 0 0 0 0.001 132379 chr13 41507727 41507727 A G ELF1 Nonsynonymous SNV L541P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.826 132380 chr14 21792781 21792781 G T rs34067949 RPGRIP1 Nonsynonymous SNV Q589H 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 25.1 132381 chr16 21995737 21995737 C T rs140219446 PDZD9 Nonsynonymous SNV V156M 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 5.584 132382 chr15 81574987 81574987 C T rs201533732 IL16 Synonymous SNV G363G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.06 132383 chr16 21995805 21995807 TTC - rs775919053 PDZD9 K132del 0.001 0 0 0 1 0 0 0 0 0 0 0 132384 chr13 43462507 43462507 A G rs751153398 EPSTI1 Nonsynonymous SNV L371P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.25 132385 chr14 21863115 21863115 T C rs766317271 CHD8 Synonymous SNV A1782A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.716 132386 chr16 22335866 22335866 G A rs147107880 POLR3E Nonsynonymous SNV V355M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 132387 chr13 45517744 45517744 T C rs150561069 NUFIP1 Nonsynonymous SNV K402E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 132388 chr15 81650757 81650757 C T rs7497202 TMC3 Nonsynonymous SNV V196I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 17.75 132389 chr16 23391905 23391905 C T rs140927806 SCNN1B Nonsynonymous SNV A569V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 132390 chr12 117462092 117462092 G A rs760745222 FBXW8 Nonsynonymous SNV R437Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 132391 chr13 46725119 46725119 C T rs202131210 LCP1 Synonymous SNV L278L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.47 132392 chr13 46733070 46733070 G A rs117014375 LCP1 Nonsynonymous SNV A40V 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 23 132393 chr13 77748493 77748493 G A rs117908295 MYCBP2 Synonymous SNV N1868N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.258 132394 chr12 120878282 120878282 A G rs556385005 COX6A1 Nonsynonymous SNV H91R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 132395 chr13 113487180 113487180 G A rs768448846 ATP11A Nonsynonymous SNV E468K 0.002 0 0 0 2 0 0 0 0 0 0 0 24 132396 chr13 95121188 95121188 T C rs149635974 DCT Nonsynonymous SNV Q136R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 132397 chr12 121600238 121600238 G A rs28360447 P2RX7 Nonsynonymous SNV G150R 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 32 132398 chr12 105440542 105440542 C T rs146023221 ALDH1L2 Stop gain W603X 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 45 132399 chr15 86286782 86286782 G C rs756068422 AKAP13 Nonsynonymous SNV E1327D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.544 132400 chr3 46722850 46722850 C T rs117431144 ALS2CL Nonsynonymous SNV R441Q 0 0 0 3 0 0 0.008 0 0 0 0 0 35 132401 chr16 28962515 28962515 C T NFATC2IP Synonymous SNV V61V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 132402 chr12 106633047 106633047 C T rs778757423 CKAP4 Nonsynonymous SNV A522T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.778 132403 chr15 89002870 89002870 C T rs77140264 MRPL46 Nonsynonymous SNV V272I 0.008 0.005 0.01 4 9 2 0.01 3 0 0 0 0 23.2 132404 chr12 122277904 122277904 G C rs137852868 HPD Nonsynonymous SNV I335M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 132405 chr16 30133157 30133157 G C rs61736373 MAPK3 Nonsynonymous SNV A114G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.85 132406 chr14 62207575 62207575 G A rs11549467 HIF1A Nonsynonymous SNV A612T 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 6.577 132407 chr13 45971442 45971442 T C rs143559848 SLC25A30 Nonsynonymous SNV Y211C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 132408 chr15 89738636 89738636 G A rs8029350 ABHD2 Synonymous SNV V420V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.841 132409 chr15 89867094 89867094 G T rs2307429 POLG Synonymous SNV A703A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.45 132410 chr12 122825503 122825503 C T rs752254274 CLIP1 Nonsynonymous SNV A704T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 132411 chr16 30750116 30750116 C T rs149217909 SRCAP Nonsynonymous SNV L2919F 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Likely benign 3.712 132412 chr12 123340612 123340612 C T HIP1R Nonsynonymous SNV A405V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 132413 chr15 90451555 90451555 G A rs111380828 ARPIN, ARPIN-AP3S2 Synonymous SNV S86S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.69 132414 chr16 31384687 31384687 C T rs11574641 ITGAX Synonymous SNV S828S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.201 132415 chr13 28240002 28240002 G C rs565786176 POLR1D Nonsynonymous SNV S66T 0.003 0 0 0 3 0 0 0 0 0 0 0 19.55 132416 chr3 51673903 51673903 G A RAD54L2 Nonsynonymous SNV D707N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.8 132417 chr16 31497161 31497161 C T rs202200611 SLC5A2 Nonsynonymous SNV R139C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 132418 chr16 31501722 31501722 A G rs61741237 SLC5A2 Nonsynonymous SNV T629A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.026 132419 chr12 125478381 125478381 - CTGCTG rs546819378 BRI3BP L25_G26insLL 0.006 0 0.02 2 7 0 0.005 6 2 0 1 0 132420 chr16 3293323 3293323 C T rs104895201 MEFV Nonsynonymous SNV V722M 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Uncertain significance 8.313 132421 chr13 31232063 31232063 A G USPL1 Nonsynonymous SNV T288A 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.001 132422 chr14 38278033 38278033 G A rs146631992 TTC6 Synonymous SNV K151K 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 13.67 132423 chr15 93173458 93173458 G A rs186489778 FAM174B Synonymous SNV F154F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.07 132424 chr15 93749463 93749463 G C rs866991549 LOC105370980 Nonsynonymous SNV S14T 0 0 0.007 0 0 0 0 2 0 0 0 0 3.386 132425 chr14 45431960 45431960 C A TOGARAM1 Synonymous SNV A112A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.47 132426 chr12 130941143 130941143 C T rs142828341 RIMBP2 Nonsynonymous SNV D69N 0.002 0 0.017 0 2 0 0 5 0 0 0 0 23.6 132427 chr13 36223812 36223812 G A rs372021254 NBEA Synonymous SNV P369P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 11.36 132428 chr13 37679223 37679223 C T rs372131109 CSNK1A1L Synonymous SNV L57L 0.003 0 0 4 3 0 0.01 0 0 0 0 0 2.595 132429 chr16 449648 449648 G A NME4 Nonsynonymous SNV V83I 0.003 0 0 0 4 0 0 0 0 0 0 0 17.54 132430 chr3 58149119 58149119 G A rs781563858 FLNB-AS1 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 8.502 132431 chr13 42439929 42439929 G A rs61744775 VWA8 Synonymous SNV I456I 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 15.26 132432 chr16 46766444 46766444 G A rs771870674 MYLK3 Nonsynonymous SNV R39C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.16 132433 chr14 20915606 20915606 G A rs768366539 OSGEP Nonsynonymous SNV L315F 0.003 0.008 0 0 4 3 0 0 0 0 0 0 18.02 132434 chr13 42763349 42763349 C T rs35776153 DGKH Nonsynonymous SNV P361S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.179 132435 chr14 74953134 74953134 C T rs151220873 NPC2 Nonsynonymous SNV V30M 0.006 0 0.003 0 7 0 0 1 0 0 0 0 Benign/Likely benign 17.38 132436 chr14 75190024 75190024 G T rs34238686 FCF1 Synonymous SNV G102G 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 9.488 132437 chr14 55203818 55203818 G C rs756912553 SAMD4A Nonsynonymous SNV Q264H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 132438 chr16 1254336 1254336 C T rs375325893 CACNA1H Nonsynonymous SNV R777C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.5 132439 chr12 133463822 133463822 G A rs761126986 CHFR Synonymous SNV V31V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 132440 chr14 105407601 105407601 T C rs182857858 AHNAK2 Nonsynonymous SNV I4629M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.541 132441 chr16 4934286 4934286 C T rs143676756 PPL Nonsynonymous SNV R1457Q 0.012 0.013 0 0 14 5 0 0 0 0 0 0 22.9 132442 chr14 21499319 21499319 G A rs112271660 TPPP2 Nonsynonymous SNV A108T 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 6.039 132443 chr16 1413061 1413061 G A rs561640998 GNPTG Nonsynonymous SNV R296Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.41 132444 chr3 73673633 73673633 G C PDZRN3 Nonsynonymous SNV A115G 0 0 0 3 0 0 0.008 0 0 0 0 0 14.59 132445 chr16 1537889 1537889 C G rs781192345 PTX4 Nonsynonymous SNV R70P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 132446 chr16 55360463 55360467 CCTGC - rs754649757 IRX6 Stop gain P89* 0.002 0 0 0 2 0 0 0 0 0 0 0 132447 chr16 1575309 1575309 C T rs374661866 IFT140 Synonymous SNV T929T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.227 132448 chr12 21457402 21457402 A G rs138014050 SLCO1A2 Nonsynonymous SNV I183T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 132449 chr12 21693508 21693508 C T GYS2 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 132450 chr13 53420063 53420063 C G rs200182252 PCDH8 Nonsynonymous SNV A837P 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 23.1 132451 chr14 23511469 23511469 C T PSMB11 Nonsynonymous SNV P12L 0.004 0 0 0 5 0 0 0 0 0 0 0 6.519 132452 chr14 23844979 23844979 C T rs1124053 IL25 Nonsynonymous SNV R142W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 31 132453 chr14 91633623 91633623 A T rs750682848 DGLUCY Nonsynonymous SNV E53V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 132454 chr16 19483475 19483475 C T TMC5 Synonymous SNV F370F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 132455 chr16 58314182 58314182 G A rs370813126 PRSS54 Synonymous SNV P279P 0.003 0 0 0 4 0 0 0 0 0 0 0 8.04 132456 chr14 68126593 68126593 C T rs752662265 VTI1B Nonsynonymous SNV R74Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 132457 chr13 92345571 92345571 A T rs766646280 GPC5 Nonsynonymous SNV L152F 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 132458 chr12 29446260 29446260 C A rs374940611 FAR2 Nonsynonymous SNV P73T 0.003 0 0 0 3 0 0 0 0 0 0 0 27.3 132459 chr3 108156459 108156459 G A rs201356810 MYH15 Nonsynonymous SNV R1075W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.5 132460 chr14 93396098 93396098 G A rs77938104 CHGA Nonsynonymous SNV S98N 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 17.17 132461 chr12 125609551 125609551 C T rs151296809 AACS Synonymous SNV I430I 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 12.66 132462 chr16 20994219 20994219 G A DNAH3 Synonymous SNV S2561S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.67 132463 chr16 67223030 67223030 G A EXOC3L1 Nonsynonymous SNV L34F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 132464 chr16 68009708 68009708 G A rs140842438 DPEP3 Nonsynonymous SNV A475V 0.008 0 0 0 9 0 0 0 0 0 0 0 0.007 132465 chr14 102516487 102516487 G A rs35079638 DYNC1H1 Synonymous SNV T4588T 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Benign/Likely benign 11.8 132466 chr12 130921500 130921500 G A rs144812508 RIMBP2 Nonsynonymous SNV R648W 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 24.3 132467 chr14 102792853 102792853 G A rs61731137 ZNF839 Nonsynonymous SNV D158N 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 26 132468 chr16 706388 706388 C G WDR90 Nonsynonymous SNV L685V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 132469 chr16 24804954 24804954 A T rs113388806 TNRC6A Nonsynonymous SNV Q1112H 0.015 0 0.014 11 18 0 0.028 4 0 0 0 0 22.5 132470 chr16 2546356 2546356 T C rs13339237 TBC1D24 Synonymous SNV P69P 0.001 0.005 0.017 2 1 2 0.005 5 0 0 0 0 Benign/Likely benign 0.003 132471 chr16 2550475 2550475 C T rs189089167 TBC1D24 Synonymous SNV S497S 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 Benign/Likely benign 11.94 132472 chr14 75513934 75513934 T C rs61752722 MLH3 Nonsynonymous SNV M809V 0.008 0.013 0.007 1 9 5 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 132473 chr14 104643627 104643627 G A rs368290179 KIF26A Nonsynonymous SNV R1501H 0.004 0 0 3 5 0 0.008 0 0 0 0 0 27.7 132474 chr16 2819178 2819178 C T rs79439891 SRRM2 Synonymous SNV S2638S 0.003 0.008 0.014 1 3 3 0.003 4 0 0 0 0 9.631 132475 chr12 459813 459813 G A rs779410726 KDM5A Nonsynonymous SNV R428W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 132476 chr16 72984692 72984692 G A rs557018928 ZFHX3 Synonymous SNV H50H 0.002 0 0 0 2 0 0 0 0 0 0 0 2.151 132477 chr14 39650968 39650968 C T rs567019438 PNN Synonymous SNV S685S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.53 132478 chr12 48062844 48062844 C T rs199534990 RPAP3 Nonsynonymous SNV S489N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.088 132479 chr16 29979397 29979397 G A rs187590348 TMEM219 Nonsynonymous SNV R136K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.092 132480 chr16 29989644 29989644 G A rs61737959 TAOK2 Synonymous SNV R92R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 9.831 132481 chr16 30002636 30002636 C G rs369537567 TAOK2 Nonsynonymous SNV A966G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.31 132482 chr14 39901209 39901209 C G rs1028530240 FBXO33 Nonsynonymous SNV S53T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.598 132483 chr14 24909629 24909629 C - rs776072709 SDR39U1 G99Afs*22 0.002 0.005 0 0 2 2 0 0 0 0 0 0 132484 chr16 30393201 30393201 C T rs377096306 SEPTIN1 Nonsynonymous SNV R67H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 132485 chr14 24909630 24909630 C A rs200225837 SDR39U1 Nonsynonymous SNV G99C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 132486 chr15 28519529 28519529 G A rs367928013 HERC2 Synonymous SNV P236P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.473 132487 chr14 20404282 20404282 G A rs200187960 OR4K1 Nonsynonymous SNV V153I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.51 132488 chr16 309524 309524 G A rs111339986 FAM234A Nonsynonymous SNV R104K 0.004 0.008 0.017 0 5 3 0 5 0 0 0 0 0.366 132489 chr12 20774317 20774317 T C rs116851432 PDE3A Synonymous SNV H182H 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 5.209 132490 chr16 80667063 80667063 G C rs770901738 CDYL2 Nonsynonymous SNV D229E 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 13.8 132491 chr14 33291827 33291827 A C rs763406097 AKAP6 Nonsynonymous SNV Y1603S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 132492 chr12 22627757 22627757 A G rs959878512 C2CD5 Synonymous SNV S657S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11.65 132493 chr16 81232484 81232484 A G rs9934872 PKD1L2 Synonymous SNV I442I 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 1.922 132494 chr12 49433356 49433356 G A rs116686402 KMT2D Synonymous SNV R2697R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.69 132495 chr16 81232490 81232490 T C rs9937071 PKD1L2 Synonymous SNV R440R 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 0.009 132496 chr12 49433897 49433897 A G rs774043426 KMT2D Synonymous SNV P2552P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.954 132497 chr12 49437753 49437753 G A rs111924728 KMT2D Synonymous SNV G1739G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.984 132498 chr16 31475937 31475937 C A ARMC5 Synonymous SNV R531R 0 0 0.01 0 0 0 0 3 0 0 0 0 13.91 132499 chr16 81232590 81232590 T C rs9937169 PKD1L2 Nonsynonymous SNV N407S 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 21.8 132500 chr12 49446040 49446040 C T rs1064210 KMT2D Nonsynonymous SNV A476T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 3.753 132501 chr16 81232625 81232625 G T rs138475973 PKD1L2 Synonymous SNV A395A 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 1.78 132502 chr14 37737941 37737941 G A rs144389122 MIPOL1 Synonymous SNV E110E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.43 132503 chr16 81727059 81727059 G A rs754047457 CMIP Synonymous SNV V405V 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 13.56 132504 chr14 38296497 38296497 A T rs17107176 TTC6 Nonsynonymous SNV T376S 0.002 0.005 0.01 4 2 2 0.01 3 0 0 0 0 0.256 132505 chr12 50536932 50536932 C T rs146511812 CERS5 Nonsynonymous SNV R120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 132506 chr16 81944243 81944243 C T rs759496244 PLCG2 Nonsynonymous SNV R618C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 132507 chr12 27923980 27923980 C T rs554363237 MANSC4 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.3 132508 chr16 3640530 3640530 A G rs58735123 SLX4 Synonymous SNV L1037L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.008 132509 chr16 396727 396727 C T rs146736831 AXIN1 Nonsynonymous SNV S100N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 132510 chr14 57046748 57046748 T A rs575803718 TMEM260 Nonsynonymous SNV V39E 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 Uncertain significance 23.9 132511 chr14 94420712 94420712 G A rs148600455 ASB2 Synonymous SNV H95H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.493 132512 chr14 53066895 53066895 G T rs200493776 GPR137C Nonsynonymous SNV A185S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 132513 chr3 129152968 129152968 G A rs772147388 MBD4 Nonsynonymous SNV P87S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.3 132514 chr14 39555010 39555010 G A SEC23A Nonsynonymous SNV R262C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 132515 chr16 53076115 53076115 G A rs113264091 LOC105371267 0 0 0.014 0 0 0 0 4 0 0 0 0 0.749 132516 chr16 53243663 53243663 A G rs200843001 CHD9 Synonymous SNV P574P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.036 132517 chr14 24532673 24532673 A G rs73603047 CARMIL3 Synonymous SNV K970K 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 7.044 132518 chr3 132176119 132176119 C T rs143596973 DNAJC13 Synonymous SNV R452R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 18.24 132519 chr15 42743713 42743713 G A rs776994136 ZNF106 Nonsynonymous SNV R230C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 132520 chr15 43622441 43622441 C A rs200429843 LCMT2 Nonsynonymous SNV A83S 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 0.003 132521 chr12 53166591 53166591 G A KRT76 Synonymous SNV S316S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 132522 chr16 56398010 56398010 C T rs144358339 AMFR Nonsynonymous SNV R536H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.5 132523 chr12 46320931 46320931 T A rs143615919 SCAF11 Synonymous SNV P851P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 0.286 132524 chr15 28356991 28356991 T G rs139574855 HERC2 Nonsynonymous SNV D4808A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 132525 chr14 69356932 69356932 G T rs1054200 ACTN1 Synonymous SNV I386I 0.009 0.013 0.014 2 10 5 0.005 4 0 0 0 0 12.68 132526 chr12 4737967 4737967 G A rs372584198 AKAP3 Nonsynonymous SNV T34I 0.006 0 0 0 7 0 0 0 0 0 0 0 10.74 132527 chr12 4766957 4766957 A G NDUFA9 Nonsynonymous SNV Q121R 0.006 0 0 0 7 0 0 0 0 0 0 0 11.4 132528 chr12 53344166 53344166 C T rs553275094 KRT18 Nonsynonymous SNV R158C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 132529 chr16 57717984 57717984 G C rs148644149 ADGRG3 Nonsynonymous SNV R221P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 21.8 132530 chr14 71199982 71199982 G A rs757166012 MAP3K9 Nonsynonymous SNV P435S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 132531 chr16 88909446 88909446 C T rs564422845 GALNS Nonsynonymous SNV D44N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.702 132532 chr16 67267656 67267656 G A rs757633491 FHOD1 Synonymous SNV C650C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 132533 chr12 49717449 49717449 A G rs372584414 TROAP Nonsynonymous SNV S20G 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 132534 chr14 38222407 38222407 T G TTC6 Nonsynonymous SNV L1094W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.9 132535 chr3 149479284 149479284 T C rs200339770 ANKUB1 Nonsynonymous SNV E541G 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 23 132536 chr16 89253887 89253887 C T rs148718049 CDH15 Synonymous SNV D238D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.26 132537 chr16 89258141 89258141 C T rs533094369 CDH15 Nonsynonymous SNV P485L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 2.757 132538 chr14 39583619 39583619 C T rs921179723 GEMIN2 Nonsynonymous SNV T37M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 132539 chr16 89258846 89258846 C T rs369195898 CDH15 Synonymous SNV L617L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 12.92 132540 chr12 50560984 50560984 C A CERS5 Stop gain E33X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 132541 chr16 89265202 89265202 G T rs561469047 SLC22A31 Nonsynonymous SNV F134L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.599 132542 chr16 68721608 68721608 C T rs144609048 CDH3 Synonymous SNV D533D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.861 132543 chr14 74969607 74969607 C T rs751200478 LTBP2 Nonsynonymous SNV R1640H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 132544 chr15 54435821 54435821 G T UNC13C Nonsynonymous SNV R1004L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 132545 chr14 75378030 75378030 G A rs150276514 RPS6KL1 Synonymous SNV H164H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.121 132546 chr12 50747569 50747569 C T FAM186A Nonsynonymous SNV V1016I 0.003 0 0 0 3 0 0 0 0 0 0 0 6.104 132547 chr16 70698177 70698177 C T rs146594262 MTSS2 Synonymous SNV T549T 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 3.478 132548 chr16 70729448 70729448 T C rs61756217 VAC14 Synonymous SNV T444T 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 Benign 5.239 132549 chr3 153870656 153870656 A G rs544361985 ARHGEF26 Synonymous SNV T474T 0 0 0 4 0 0 0.01 0 0 0 0 0 1.21 132550 chr16 71570700 71570700 C T rs143274002 CHST4 Synonymous SNV P40P 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 11.45 132551 chr16 71570734 71570734 C T rs201107063 CHST4 Nonsynonymous SNV R52C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 132552 chr14 64457217 64457217 A G rs200848069 SYNE2 Nonsynonymous SNV Q801R 0 0.003 0 4 0 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.75 132553 chr16 89806477 89806477 C T rs17227354 FANCA Nonsynonymous SNV V1287I 0.011 0.005 0.003 2 13 2 0.005 1 0 0 0 0 Benign/Likely benign 0.005 132554 chr16 72130330 72130330 G T DHX38 Nonsynonymous SNV A92S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 132555 chr14 64522961 64522961 A G SYNE2 Synonymous SNV K3348K 0 0 0 3 0 0 0.008 0 0 0 0 0 0.035 132556 chr12 52627325 52627325 C A rs200100406 KRT7 Nonsynonymous SNV P82H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 132557 chr15 41797054 41797054 C G rs146757784 LTK Nonsynonymous SNV R549S 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 21.6 132558 chr12 57850341 57850341 G A rs937029805 INHBE Nonsynonymous SNV D255N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 132559 chr14 92249453 92249453 A G TC2N Synonymous SNV N424N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.358 132560 chr12 53091600 53091600 G A rs1049889692 KRT77 Synonymous SNV T208T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.206 132561 chr12 65462623 65462623 A G rs34105816 WIF1 Synonymous SNV D153D 0.005 0.016 0.014 4 6 6 0.01 4 0 0 0 0 3.494 132562 chr17 1675350 1675350 C T rs758827216 SERPINF1 Synonymous SNV L21L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.11 132563 chr15 48426484 48426484 A G rs1426654 SLC24A5 Nonsynonymous SNV T111A 0.009 0.003 0.017 0 10 1 0 5 1 0 2 0 Benign 11.03 132564 chr12 66641768 66641768 T A IRAK3 Nonsynonymous SNV S475R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.658 132565 chr12 68619529 68619529 A T rs200921803 IL26 Nonsynonymous SNV V3E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 132566 chr15 72690734 72690734 C T rs139212164 TMEM202 Nonsynonymous SNV R23W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.6 132567 chr14 91247104 91247104 G A rs140245563 TTC7B Synonymous SNV I141I 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 5.033 132568 chr17 17900913 17900913 C T rs529789455 DRC3 Nonsynonymous SNV R322C 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 132569 chr14 91804379 91804379 G A rs17127255 CCDC88C Synonymous SNV H340H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 5.852 132570 chr14 64735546 64735546 G A rs371856990 ESR2 Nonsynonymous SNV R207W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 132571 chr14 92126184 92126184 C T CATSPERB Nonsynonymous SNV A477T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 29.1 132572 chr14 93118469 93118469 A G rs139103248 RIN3 Nonsynonymous SNV M284V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 132573 chr15 75091664 75091664 G A rs2229729 CSK Synonymous SNV P98P 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 13.01 132574 chr14 68238888 68238888 C T rs759642399 ZFYVE26 Nonsynonymous SNV S1787N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 4.51 132575 chr12 7254476 7254476 C T rs377634122 C1RL Nonsynonymous SNV G170R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.482 132576 chr12 54910758 54910758 G A rs140540603 NCKAP1L Synonymous SNV P309P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.15 132577 chr15 101448629 101448629 G A rs147752643 ALDH1A3 Nonsynonymous SNV A363T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 22.8 132578 chr15 78401655 78401655 C T rs780146135 CIB2 Nonsynonymous SNV D41N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 132579 chr12 55614925 55614925 G T rs139031268 OR10A7 Nonsynonymous SNV L39F 0.003 0 0 0 4 0 0 0 0 0 0 0 19 132580 chr12 55726007 55726007 - C rs778221227 OR6C3 Frameshift insertion C176Mfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 132581 chr12 80611440 80611440 A C rs372771631 OTOGL Synonymous SNV I68I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.341 132582 chr12 56630505 56630505 C A rs150978302 SLC39A5 Nonsynonymous SNV H394Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 132583 chr12 56708619 56708619 G A CNPY2 Nonsynonymous SNV P74S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 132584 chr15 64689981 64689981 A G rs35103547 TRIP4 Synonymous SNV Q194Q 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Benign 4.764 132585 chr14 94830103 94830112 CCATACACTA - SERPINA2 0 0 0 1 0 0 0.003 0 0 0 0 0 132586 chr15 65499171 65499171 G A rs773386993 CILP Nonsynonymous SNV R125W 0.004 0 0 4 5 0 0.01 0 0 0 0 0 14.37 132587 chr14 77492351 77492351 A C rs368940091 IRF2BPL Synonymous SNV G595G 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.002 132588 chr12 57870951 57870951 C T rs770422305 ARHGAP9 Synonymous SNV P102P 0.003 0 0 0 4 0 0 0 0 0 0 0 10.08 132589 chr12 57975323 57975323 G A rs746095110 KIF5A Nonsynonymous SNV A872T 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.586 132590 chr15 34147060 34147060 G A RYR3 Nonsynonymous SNV G4647S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 132591 chr12 58016874 58016874 C T rs750042579 SLC26A10 Nonsynonymous SNV T336M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 132592 chr16 89986508 89986508 A G rs141177570 MC1R Nonsynonymous SNV N281S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22 132593 chr14 77945053 77945053 C T rs142301765 ISM2 Nonsynonymous SNV M211I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 132594 chr12 96180774 96180774 C T rs566292000 NTN4 Synonymous SNV K176K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.829 132595 chr4 843506 843506 G A rs7693026 GAK Synonymous SNV D1218D 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Benign 7.26 132596 chr17 10433002 10433002 G T rs767951536 MYH2 Nonsynonymous SNV T999N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.51 132597 chr15 89848604 89848606 AAT - FANCI I1014del 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 132598 chr15 90021097 90021097 T C rs199512977 RHCG Nonsynonymous SNV I316V 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 0.001 132599 chr12 66522828 66522828 T A rs1179916 LLPH Nonsynonymous SNV K20M 0.003 0.003 0.014 2 4 1 0.005 4 0 0 1 0 28.2 132600 chr17 1373923 1373923 T A rs145258123 MYO1C Nonsynonymous SNV K758M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 132601 chr4 1807556 1807556 G A rs141422828 FGFR3 Synonymous SNV L463L 0 0 0 3 0 0 0.008 0 0 0 0 0 1.544 132602 chr12 6928020 6928020 C T rs138218083 CD4 Nonsynonymous SNV A250V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.6 132603 chr17 1628274 1628274 G T rs113001863 WDR81 Synonymous SNV G7G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.105 132604 chr14 94083567 94083567 C A rs374837138 UNC79 Nonsynonymous SNV Q1381K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 132605 chr17 1638891 1638891 G A rs148281999 WDR81 Synonymous SNV P532P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.518 132606 chr15 78386516 78386516 G A rs753416997 SH2D7 Nonsynonymous SNV R80Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 132607 chr14 94417564 94417564 C T rs200411978 ASB2 Nonsynonymous SNV V173M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 132608 chr15 93015721 93015721 A G rs77687316 C15orf32 0.01 0.018 0.02 3 12 7 0.008 6 0 0 0 0 0.016 132609 chr4 3769580 3769580 G A rs777233983 ADRA2C Nonsynonymous SNV G416D 0 0 0 3 0 0 0.008 0 0 0 0 0 0.003 132610 chr17 1703566 1703566 A C rs9890631 SMYD4 Nonsynonymous SNV I374M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.033 132611 chr4 5586384 5586384 G A rs60809236 EVC2 Nonsynonymous SNV S928L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign/Likely benign 10.58 132612 chr15 42984305 42984305 G A rs937269400 STARD9 Nonsynonymous SNV R3510Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.483 132613 chr12 7285651 7285651 G A CLSTN3 Synonymous SNV E32E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.978 132614 chr17 3567132 3567132 C T rs754097099 TAX1BP3 Synonymous SNV K69K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.27 132615 chr15 42511791 42511791 T C TMEM87A Synonymous SNV K448K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.662 132616 chr16 11349225 11349225 C T SOCS1 Synonymous SNV A37A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.81 132617 chr17 36830423 36830423 T A rs556372115 EPOP Nonsynonymous SNV D109V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.4 132618 chr15 42710090 42710090 G A rs767606100 ZNF106 Synonymous SNV T1021T 0 0.005 0 0 0 2 0 0 0 0 0 0 15.13 132619 chr17 36830431 36830431 C A rs576284104 EPOP Nonsynonymous SNV E106D 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 20.2 132620 chr15 101436069 101436069 C G rs112981257 LOC101927751 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.132 132621 chr13 20797319 20797319 C T rs571454176 GJB6 Nonsynonymous SNV E101K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.476 132622 chr15 22863001 22863001 A G rs17137283 TUBGCP5 Synonymous SNV S674S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.19 132623 chr13 24242997 24242997 T C rs367870672 TNFRSF19 Nonsynonymous SNV S204P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.82 132624 chr13 25887149 25887149 G A rs559729756 NUP58 Nonsynonymous SNV A127T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 132625 chr15 89395201 89395201 G A rs202060628 ACAN Nonsynonymous SNV E735K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 132626 chr4 13604034 13604034 T C rs61995956 BOD1L1 Nonsynonymous SNV Q1497R 0.014 0.013 0.014 7 16 5 0.018 4 0 0 0 0 11.42 132627 chr13 28964199 28964199 G A rs745653714 FLT1 Nonsynonymous SNV T568M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 132628 chr17 38978467 38978467 C A rs200060640 KRT10 Nonsynonymous SNV G124V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.1 132629 chr15 34520752 34520752 C T EMC4 Nonsynonymous SNV H79Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.8 132630 chr17 26851022 26851022 C G FOXN1 Nonsynonymous SNV T12R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 132631 chr15 59350640 59350640 T C rs770570053 RNF111 Synonymous SNV S419S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.439 132632 chr17 27614055 27614055 G C rs978456807 NUFIP2 Synonymous SNV P319P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 132633 chr4 38910217 38910217 A G rs151128422 FAM114A1 Nonsynonymous SNV K14R 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 28.2 132634 chr15 65043816 65043816 C T RBPMS2 Nonsynonymous SNV G37S 0.001 0 0 0 1 0 0 0 0 0 0 0 35 132635 chr13 41705412 41705412 C A rs141233174 KBTBD6 Nonsynonymous SNV Q412H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 132636 chr17 33316515 33316515 C T rs201814781 LIG3 Nonsynonymous SNV S241L 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 1 15.45 132637 chr17 33588054 33588054 G A rs747219375 SLFN5 Synonymous SNV K359K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.52 132638 chr15 67664707 67664707 A G rs143984798 IQCH Nonsynonymous SNV T86A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.185 132639 chr15 42042084 42042084 C G rs370483949 MGA Synonymous SNV A1884A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.586 132640 chr16 22193574 22193574 C A rs1020122847 SDR42E2 Nonsynonymous SNV N488K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 132641 chr17 3447952 3447952 C T TRPV3 Nonsynonymous SNV G78S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 132642 chr4 47538724 47538725 TA - rs761536460 ATP10D Y389Cfs*17 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 132643 chr4 54362201 54362201 G A rs756358873 LNX1 Nonsynonymous SNV H351Y 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 132644 chr15 71124505 71124505 G A rs150824038 LARP6 Synonymous SNV L270L 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 1.28 132645 chr15 42731805 42731805 T C rs148601014 ZNF106 Nonsynonymous SNV N486D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 132646 chr17 41477670 41477670 G A rs61749921 ARL4D Synonymous SNV R190R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.95 132647 chr4 57181199 57181199 G A rs766342310 CRACD Nonsynonymous SNV A511T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.73 132648 chr17 41570236 41570236 C G DHX8 Nonsynonymous SNV P140A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 132649 chr13 76397759 76397759 A G rs918189896 LMO7 Nonsynonymous SNV N573S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 132650 chr15 43749105 43749105 A G rs760171059 TP53BP1 Synonymous SNV A567A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.729 132651 chr13 23808821 23808821 A G rs149595403 SGCG Synonymous SNV P89P 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.028 132652 chr16 30376900 30376900 G A rs749347889 TBC1D10B Synonymous SNV P324P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 132653 chr13 98672038 98672038 A C rs149346936 IPO5 Nonsynonymous SNV N1014H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.7 132654 chr13 99449717 99449717 C T rs2282133 DOCK9 Synonymous SNV A1950A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 132655 chr17 39296679 39296679 A G rs533524518 KRTAP4-6 Nonsynonymous SNV C21R 0.009 0.018 0.037 4 10 7 0.01 11 0 0 0 0 18.16 132656 chr16 1710050 1710050 C T rs200073715 CRAMP1 Nonsynonymous SNV A800V 0.007 0 0 1 8 0 0.003 0 0 0 0 0 12.04 132657 chr4 71347486 71347486 C G rs149680962 MUC7 Nonsynonymous SNV T342S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.813 132658 chr16 1822523 1822523 G C rs200767849 MRPS34 Nonsynonymous SNV S126C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.345 132659 chr15 79237291 79237291 C T rs545051698 CTSH Synonymous SNV G11G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.21 132660 chr15 81593738 81593738 A T rs202181184 IL16 Nonsynonymous SNV D367V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 11.94 132661 chr15 79750690 79750690 G A rs140205068 MINAR1 Nonsynonymous SNV R734H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.3 132662 chr14 103389030 103389030 G A AMN Nonsynonymous SNV G2D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 132663 chr13 32915195 32915195 A T BRCA2 Nonsynonymous SNV M2235L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 132664 chr15 86076850 86076850 T C AKAP13 Nonsynonymous SNV C73R 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 25.9 132665 chr16 21139111 21139111 G A rs761967461 DNAH3 Stop gain R369X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 132666 chr14 104559042 104559042 G A ASPG Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 132667 chr17 48276617 48276617 G A COL1A1 Synonymous SNV P147P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.45 132668 chr15 75230320 75230320 G A rs369373998 COX5A Synonymous SNV A12A 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 12.36 132669 chr14 105208253 105208253 C T rs773069031 ADSS1 Nonsynonymous SNV P83S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 132670 chr16 2138565 2138565 G A rs45506695 TSC2 Nonsynonymous SNV R1549Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 132671 chr15 89389082 89389082 C T rs185960535 ACAN Synonymous SNV T466T 0.007 0.008 0.003 7 8 3 0.018 1 1 0 0 0 Benign 13.84 132672 chr17 48599370 48599370 T C MYCBPAP Synonymous SNV P410P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.478 132673 chr16 2345737 2345737 G A rs143552557 ABCA3 Synonymous SNV A756A 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 7.49 132674 chr17 41957343 41957343 C T MPP2 Nonsynonymous SNV R376Q 0 0 0.003 0 0 0 0 1 0 0 0 0 30 132675 chr17 48693726 48693726 C T CACNA1G Nonsynonymous SNV R1634C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 132676 chr16 24960803 24960803 A C rs139629277 ARHGAP17 Nonsynonymous SNV V350G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 132677 chr13 46543882 46543882 G A rs202084019 ZC3H13 Nonsynonymous SNV R933C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 132678 chr13 47356835 47356835 G A rs35111834 ESD Synonymous SNV T116T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 10.83 132679 chr15 81295674 81295674 G A rs370704886 TLNRD1 Synonymous SNV P354P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.11 132680 chr16 2855008 2855008 C T PRSS41 Nonsynonymous SNV R278W 0.005 0 0 1 6 0 0.003 0 0 0 0 0 14.86 132681 chr14 21052538 21052538 G A rs34493377 RNASE11 Synonymous SNV D32D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.354 132682 chr14 21511461 21511461 G A rs202167148 RNASE7 Nonsynonymous SNV V104M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 132683 chr17 56353055 56353055 G A rs771542365 MPO Nonsynonymous SNV R405C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 33 132684 chr15 73547068 73547068 G T NEO1 Nonsynonymous SNV G664W 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 34 132685 chr13 73320800 73320800 C T rs751268979 BORA Nonsynonymous SNV R294W 0.005 0.005 0 0 6 2 0 0 0 0 0 0 27.5 132686 chr15 73735640 73735640 T A rs748165364 REC114 Synonymous SNV P38P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.69 132687 chr13 76381679 76381679 T C rs182908547 LMO7 Synonymous SNV H93H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 0.004 132688 chr13 76391327 76391327 A T LMO7 Nonsynonymous SNV E332D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.04 132689 chr16 31049864 31049864 T G STX4 Nonsynonymous SNV L122V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 132690 chr14 23072877 23072877 C T rs146399735 ABHD4 Nonsynonymous SNV P178L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.7 132691 chr15 76463343 76463343 G A TMEM266 Nonsynonymous SNV G175R 0.002 0 0 0 2 0 0 0 0 0 0 0 34 132692 chr13 98996094 98996094 G A FARP1 Nonsynonymous SNV E84K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 132693 chr15 77067392 77067392 G A rs200719909 SCAPER Nonsynonymous SNV A34V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.42 132694 chr16 1143840 1143840 C G C1QTNF8 Synonymous SNV T140T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.368 132695 chr16 67244075 67244075 C T rs115503334 LRRC29 Stop gain W6X 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 34 132696 chr17 61574189 61574189 G A rs759423545 ACE Synonymous SNV P563P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.06 132697 chr14 24542798 24542798 C T rs17851598 CPNE6 Synonymous SNV L87L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.82 132698 chr17 48840802 48840802 G A rs143031243 ANKRD40CL Stop gain R53X 0 0 0.034 0 0 0 0 10 0 0 0 0 14.74 132699 chr16 4043496 4043496 C T rs780834261 ADCY9 Nonsynonymous SNV G634R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.8 132700 chr16 14341011 14341011 G A rs114811657 MRTFB Nonsynonymous SNV G621S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 132701 chr14 24675233 24675233 C T rs146066616 TSSK4 Nonsynonymous SNV S35F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.7 132702 chr16 69143315 69143315 C T rs140561541 HAS3 Nonsynonymous SNV T6M 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 21.7 132703 chr16 69170741 69170741 G T rs144369314 UTP4 Nonsynonymous SNV G18V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 132704 chr17 5425076 5425076 A G rs146932154 NLRP1 Nonsynonymous SNV M1154T 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 Benign 19.21 132705 chr15 91422913 91422913 A G rs750899397 FURIN Synonymous SNV T389T 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 0.817 132706 chr17 55945598 55945598 C T rs34800498 CUEDC1 Nonsynonymous SNV R316Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 27.1 132707 chr14 30108012 30108012 A G PRKD1 Synonymous SNV S265S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.861 132708 chr17 56621376 56621376 G A SEPTIN4 Nonsynonymous SNV P58S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.813 132709 chr16 50362620 50362620 C T BRD7 Synonymous SNV T349T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 132710 chr17 58506748 58506748 C T rs57928695 C17orf64 Nonsynonymous SNV P152L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12 132711 chr16 1575252 1575252 G A rs777036003 IFT140 Synonymous SNV Y948Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.533 132712 chr17 58506785 58506785 G T rs9913666 C17orf64 Synonymous SNV L164L 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 2.522 132713 chr17 58508582 58508582 G A rs8071181 C17orf64 Synonymous SNV R222R 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 7.221 132714 chr17 681956 681956 C T rs754689958 GLOD4 Nonsynonymous SNV A7T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.8 132715 chr17 60769617 60769617 G A rs138600083 MRC2 Synonymous SNV L1415L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 132716 chr17 60814473 60814473 C T rs567796772 MARCHF10 Synonymous SNV S252S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 132717 chr16 55719143 55719143 G A rs1805066 SLC6A2 Nonsynonymous SNV V140I 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign 5.29 132718 chr4 144109069 144109069 C A USP38 Nonsynonymous SNV T258K 0 0 0 4 0 0 0.01 0 0 0 0 0 26.3 132719 chr17 62529280 62529282 AAG - CEP95 K467del 0 0 0.003 0 0 0 0 1 0 0 0 0 132720 chr17 63200295 63200295 C T rs747533853 RGS9 Nonsynonymous SNV P357L 0 0 0.007 0 0 0 0 2 0 0 0 0 34 132721 chr14 50100284 50100284 A T rs144077436 DNAAF2 Nonsynonymous SNV N528K 0.003 0 0.014 0 4 0 0 4 0 0 0 0 Benign/Likely benign 11.66 132722 chr4 146101102 146101102 G C OTUD4 Synonymous SNV P8P 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 17.67 132723 chr16 1254440 1254440 C T rs369215879 CACNA1H Synonymous SNV G811G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.96 132724 chr14 51221341 51221341 C T rs45578537 NIN Synonymous SNV T845T 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Benign 12.97 132725 chr15 89816641 89816641 A C FANCI Nonsynonymous SNV S306R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19.52 132726 chr17 72588241 72588241 C T rs201588570 C17orf77 Nonsynonymous SNV A19V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 14.86 132727 chr16 58577315 58577315 - A rs751489327 CNOT1 Frameshift insertion L1544Sfs*22 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 132728 chr16 14738345 14738345 A G rs754453524 BFAR Nonsynonymous SNV N48D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27 132729 chr16 22291619 22291619 C T rs200375331 EEF2K Nonsynonymous SNV R664W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 132730 chr16 2327622 2327622 C T rs772839229 ABCA3 Synonymous SNV P1653P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.39 132731 chr16 23768875 23768875 C T rs61731149 CHP2 Stop gain Q188X 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 43 132732 chr16 24888589 24888589 A C SLC5A11 Nonsynonymous SNV Y93S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 132733 chr16 1706131 1706131 G A CRAMP1 Nonsynonymous SNV R458Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26 132734 chr17 73484165 73484165 A C TMEM94 Nonsynonymous SNV I198L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 132735 chr17 71746580 71746583 ACAA - rs144012410 LINC00469 0 0 0.044 0 0 0 0 13 0 0 0 0 132736 chr15 91461498 91461498 G A rs760174400 MAN2A2 Synonymous SNV A1023A 0.003 0 0 4 3 0 0.01 0 0 0 0 0 8.228 132737 chr17 73498760 73498760 G A CASKIN2 Nonsynonymous SNV H717Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 132738 chr17 7186803 7186803 G A SLC2A4 Synonymous SNV Q54Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.639 132739 chr16 24950789 24950789 T C rs571309783 ARHGAP17 Synonymous SNV P540P 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 6.622 132740 chr16 84229147 84229147 G A rs748455823 ADAD2 Nonsynonymous SNV R299Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 30 132741 chr16 27777693 27777693 G A rs529970994 KIAA0556 Synonymous SNV P1291P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.56 132742 chr16 2811566 2811566 C T rs149019598 SRRM2 Nonsynonymous SNV S346F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 132743 chr16 277253 277253 G T LUC7L Synonymous SNV I48I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 132744 chr17 72860463 72860463 G T rs539931119 FDXR Nonsynonymous SNV P230H 0 0 0.014 1 0 0 0.003 4 0 0 0 0 23.2 132745 chr16 28843545 28843545 G A rs200635955 ATXN2L Synonymous SNV P453P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.56 132746 chr14 24035016 24035016 C T rs77436356 LOC102724814 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 13.55 132747 chr16 3024408 3024408 G A rs371810001 PKMYT1 Synonymous SNV S261S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 7.226 132748 chr16 30581553 30581553 G C ZNF688 Nonsynonymous SNV P158R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.63 132749 chr17 73830188 73830188 C T rs113861754 UNC13D Nonsynonymous SNV V779M 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.29 132750 chr17 7483614 7483614 G A rs145396506 CD68 Nonsynonymous SNV R152Q 0.004 0.013 0 0 5 5 0 0 0 0 0 0 26.1 132751 chr17 75398265 75398265 C T rs61744333 SEPTIN9 Synonymous SNV G60G 0.009 0.008 0 4 11 3 0.01 0 0 0 0 0 Benign 18.82 132752 chr16 2140167 2140167 A G rs201035636 PKD1 Nonsynonymous SNV M4157T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 19.71 132753 chr16 2231156 2231156 G A rs201499431 CASKIN1 Nonsynonymous SNV P738L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.803 132754 chr17 7646597 7646597 T - rs564117935 DNAH2 S766Lfs*31 0.011 0.016 0 0 13 6 0 0 0 0 0 0 132755 chr16 3169784 3169784 C T rs768959001 ZNF205 Nonsynonymous SNV H375Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 132756 chr14 73725728 73725728 C A rs149941720 PAPLN Nonsynonymous SNV P557T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 132757 chr16 2812949 2812949 A C rs147312180 SRRM2 Nonsynonymous SNV K807T 0 0 0.01 1 0 0 0.003 3 0 0 0 0 6.161 132758 chr16 2813414 2813414 G C SRRM2 Nonsynonymous SNV R962T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.251 132759 chr16 17292204 17292204 G A rs36098987 XYLT1 Nonsynonymous SNV P385L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 29.9 132760 chr14 44974137 44974137 A G rs8008803 FSCB Nonsynonymous SNV L685P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.674 132761 chr14 44974141 44974141 A G rs8008805 FSCB Nonsynonymous SNV S684P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.315 132762 chr14 44974154 44974154 A G rs3840828 FSCB Synonymous SNV P679P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.967 132763 chr14 45374747 45374747 G T rs61742835 C14orf28 Nonsynonymous SNV E309D 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 Benign 20.4 132764 chr14 45473265 45473265 G A rs17092470 TOGARAM1 Synonymous SNV V780V 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 4.486 132765 chr16 47533751 47533751 T G PHKB Nonsynonymous SNV I84S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 28.9 132766 chr16 4638318 4638318 G A rs150345449 C16orf96 Nonsynonymous SNV D860N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 132767 chr16 84695451 84695451 G A rs140746047 KLHL36 Synonymous SNV P458P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 12.27 132768 chr16 20750360 20750360 C T THUMPD1 Nonsynonymous SNV E89K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 132769 chr16 21042411 21042411 T C rs201152400 DNAH3 Nonsynonymous SNV I1753V 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 1.451 132770 chr16 3117564 3117564 A C rs115923319 IL32 Nonsynonymous SNV I22L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.116 132771 chr16 3117570 3117570 A G rs144473418 IL32 Nonsynonymous SNV R24G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.015 132772 chr16 3117577 3117577 A G rs147775375 IL32 Nonsynonymous SNV Y26C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.001 132773 chr16 22177683 22177683 C T rs149501031 SDR42E2 Synonymous SNV S260S 0.005 0 0 3 6 0 0.008 0 0 0 0 0 8.831 132774 chr17 13980336 13980336 A G rs1008842304 COX10 Synonymous SNV P154P 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 7.871 132775 chr14 89039172 89039172 C T rs772511425 ZC3H14 Nonsynonymous SNV H73Y 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 132776 chr16 55883625 55883625 G A rs370834252 CES5A Nonsynonymous SNV T445M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.805 132777 chr17 80040530 80040530 C T rs148840593 FASN Nonsynonymous SNV R1931Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.75 132778 chr17 80193995 80193995 C T rs372717608 SLC16A3 Synonymous SNV A37A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 132779 chr17 79766916 79766916 C T rs770387110 GCGR Stop gain R8X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 132780 chr16 57790731 57790731 A G rs141820607 KATNB1 Nonsynonymous SNV H614R 0 0.005 0 0 0 2 0 0 0 0 0 0 11.15 132781 chr16 57918240 57918240 G C rs201186180 CNGB1 Nonsynonymous SNV S1189C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 13.26 132782 chr18 10681730 10681730 G T rs112914683 PIEZO2 Synonymous SNV A2456A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.02 132783 chr16 67201683 67201683 C T rs201298092 HSF4 Synonymous SNV A305A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 18.52 132784 chr16 67229794 67229805 CAGCAGCAGCAG - rs1003499543 E2F4 S316_S319del 0.005 0 0 0 6 0 0 0 0 0 0 0 132785 chr16 67470901 67470901 C T rs780849837 HSD11B2 Nonsynonymous SNV R405W 0.005 0 0 0 6 0 0 0 0 0 0 0 21.5 132786 chr18 13049264 13049264 T C rs141011250 CEP192 Nonsynonymous SNV V825A 0.006 0 0 2 7 0 0.005 0 0 0 0 0 7.087 132787 chr17 10233717 10233719 TCT - rs552445861 MYH13 K807del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 132788 chr18 21736728 21736728 G A rs142548654 CABYR Synonymous SNV V323V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.906 132789 chr18 23845244 23845244 G A rs77520691 TAF4B Nonsynonymous SNV A152T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.002 132790 chr18 23845245 23845245 C T rs75981934 TAF4B Nonsynonymous SNV A152V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 12.57 132791 chr15 23002981 23002981 C T rs372951548 CYFIP1 Nonsynonymous SNV P804S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 132792 chr16 70818090 70818090 C G rs147298983 VAC14 Nonsynonymous SNV V174L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23 132793 chr17 10535839 10535839 G A rs34165480 MYH3 Nonsynonymous SNV A1637V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 132794 chr16 57790824 57790824 G A KATNB1 Nonsynonymous SNV R645H 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 34 132795 chr16 72821600 72821600 - CCGCCGCCGCCGCCGCCA ZFHX3 G2613_S2614insGGGGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 132796 chr18 28622595 28622595 C A rs114503789 DSC3 Nonsynonymous SNV R11L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 13.89 132797 chr15 31294228 31294228 C T TRPM1 Nonsynonymous SNV V1576M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 132798 chr16 75203507 75203507 C T ZFP1 Nonsynonymous SNV H134Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 132799 chr17 26911215 26911215 G T rs150901596 SPAG5 Nonsynonymous SNV Q789K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 132800 chr18 33754519 33754519 C T rs35629953 ELP2 Nonsynonymous SNV A729V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 8.602 132801 chr17 26958531 26958531 G A rs576143414 KIAA0100 Nonsynonymous SNV T1279I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 132802 chr14 75537697 75537697 T C rs751639972 ZC2HC1C Synonymous SNV L141L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 132803 chr17 27430678 27430678 A G MYO18A Nonsynonymous SNV V1149A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 132804 chr16 67229793 67229793 - CAGCAGCAGCAG rs764449327 E2F4 S319_N320insSSSS 0.001 0 0 3 1 0 0.008 0 0 0 0 0 132805 chr17 27449197 27449197 G A rs749368293 MYO18A Synonymous SNV D358D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.858 132806 chr17 17119725 17119725 G A rs41464156 FLCN Synonymous SNV H423H 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 Benign/Likely benign 10.72 132807 chr5 71757117 71757117 C T ZNF366 Synonymous SNV G69G 0 0 0 3 0 0 0.008 0 0 0 0 0 8.653 132808 chr17 17700700 17700700 A G rs139684843 RAI1 Nonsynonymous SNV R1480G 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 Benign 21.6 132809 chr15 38800158 38800158 G A rs55704435 RASGRP1 Synonymous SNV Y337Y 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 8.18 132810 chr15 38810585 38810585 G A rs56366451 RASGRP1 Synonymous SNV D143D 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 11.2 132811 chr16 78064610 78064610 C A CLEC3A Nonsynonymous SNV R156S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 132812 chr15 40488857 40488857 G C rs1017842 BUB1B Nonsynonymous SNV E390D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 13.43 132813 chr18 33747095 33747095 C T ELP2 Synonymous SNV N592N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.28 132814 chr17 30648171 30648171 G A rs749611625 RHBDL3 Nonsynonymous SNV V319I 0.002 0 0 0 2 0 0 0 0 0 0 0 5.022 132815 chr18 46736029 46736029 G A rs150348470 DYM Nonsynonymous SNV P505L 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 20.7 132816 chr16 81957175 81957175 A G rs117077093 PLCG2 Nonsynonymous SNV N798S 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Likely benign 27.5 132817 chr18 47652888 47652888 C T rs545385865 MIR4320 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 132818 chr17 19618436 19618436 G A rs147915236 SLC47A2 Nonsynonymous SNV A73V 0.01 0.003 0 6 12 1 0.015 0 0 0 0 0 24.4 132819 chr18 48326437 48326439 TCT - MRO E168del 0 0 0.003 0 0 0 0 1 0 0 0 0 132820 chr16 83945957 83945957 C T rs757687650 MLYCD Synonymous SNV V311V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 13.18 132821 chr16 84024224 84024224 C T rs750941524 NECAB2 Synonymous SNV T112T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 12.82 132822 chr18 48991965 48991965 A G rs112538007 LINC01630 0 0 0.082 0 0 0 0 24 0 0 1 0 8.732 132823 chr16 84214675 84214675 G C rs368065785 TAF1C Nonsynonymous SNV P122A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.086 132824 chr16 55361564 55361564 A T rs148248438 IRX6 Synonymous SNV T160T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 132825 chr16 55536797 55536797 G A rs146725576 MMP2 Nonsynonymous SNV G576S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.607 132826 chr14 92792313 92792313 A G rs150573991 SLC24A4 Nonsynonymous SNV T78A 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign 23.4 132827 chr16 71423754 71423754 G A rs143855539 CALB2 Nonsynonymous SNV E268K 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 26 132828 chr15 42158542 42158542 C T rs777166280 SPTBN5 Synonymous SNV K2210K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.94 132829 chr16 84883095 84883095 C T CRISPLD2 Nonsynonymous SNV S155L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 132830 chr18 57026416 57026416 G A LMAN1 Synonymous SNV L21L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.643 132831 chr18 59821867 59821867 C T rs181730303 PIGN Nonsynonymous SNV V154I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.27 132832 chr5 88025128 88025128 A G rs747980554 MEF2C Synonymous SNV L141L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 0.959 132833 chr17 36709027 36709027 C T rs376938284 SRCIN1 Nonsynonymous SNV G756S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 132834 chr15 45695448 45695448 G T rs147996419 SPATA5L1 Nonsynonymous SNV R274L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.52 132835 chr18 65180706 65180706 T C rs9959648 DSEL Synonymous SNV Q380Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.906 132836 chr16 88502468 88502468 C G rs751901105 ZNF469 Nonsynonymous SNV P2864A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 132837 chr15 49148294 49148294 G A rs370110466 SHC4 Synonymous SNV A366A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.062 132838 chr15 49329828 49329828 T C rs150653088 SECISBP2L Nonsynonymous SNV I55V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 132839 chr15 101775680 101775680 G A rs115447262 CHSY1 Synonymous SNV D141D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.235 132840 chr15 22849057 22849057 G A TUBGCP5 Synonymous SNV L368L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.59 132841 chr16 88952331 88952331 C T rs770238259 LOC101927793 0 0.003 0 0 0 1 0 0 0 0 0 0 4.451 132842 chr16 88952392 88952392 G A rs148984222 CBFA2T3 Synonymous SNV N204N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.77 132843 chr17 30216346 30216346 G A rs769966529 UTP6 Synonymous SNV R167R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 15.23 132844 chr16 72991712 72991717 GCCACC - rs779744677 ZFHX3 V777_A778del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 132845 chr16 8941653 8941653 C T rs142459706 PMM2 Nonsynonymous SNV R238C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.33 132846 chr18 908290 908290 C T rs149799520 ADCYAP1 Synonymous SNV N89N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.53 132847 chr15 57809116 57809116 C T rs139813604 CGNL1 Nonsynonymous SNV L848F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 31 132848 chr15 34077891 34077891 C T rs190650629 RYR3 Synonymous SNV D3099D 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Likely benign 11.05 132849 chr19 1010785 1010785 G A rs765217467 TMEM259 Nonsynonymous SNV T476M 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 132850 chr17 10408175 10408175 C G rs145689977 MYH1 Nonsynonymous SNV M881I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.995 132851 chr15 40005692 40005692 G A rs553692762 FSIP1 Nonsynonymous SNV R381W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28.3 132852 chr17 34956460 34956460 C T rs139141945 DHRS11 Synonymous SNV H245H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.31 132853 chr16 845701 845701 G A rs747341002 CHTF18 Nonsynonymous SNV S731N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 132854 chr5 131296269 131296269 A G rs764558062 ACSL6 Nonsynonymous SNV S535P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.35 132855 chr17 37224179 37224179 G A rs372500263 PLXDC1 Nonsynonymous SNV R473C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 132856 chr17 37295962 37295962 A G rs376315498 PLXDC1 Nonsynonymous SNV L67P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.92 132857 chr19 10812841 10812841 C T QTRT1 Nonsynonymous SNV T121M 0 0 0.003 0 0 0 0 1 0 0 0 0 35 132858 chr17 40939350 40939350 C T rs146216767 WNK4 Nonsynonymous SNV R175C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27 132859 chr15 68500660 68500660 G A rs145746878 CLN6 Nonsynonymous SNV R252C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.1 132860 chr19 11834031 11834031 G A ZNF823 Synonymous SNV V62V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.421 132861 chr17 17697103 17697105 CAG - RAI1 Q291del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 132862 chr15 42439838 42439838 G A PLA2G4F Synonymous SNV V394V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.53 132863 chr15 42457972 42457972 C A rs61761618 VPS39 Nonsynonymous SNV D575Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 132864 chr16 85952004 85952004 G A rs185056029 MIR6774 0.002 0 0 0 2 0 0 0 0 0 0 0 1.967 132865 chr17 17786070 17786070 C T rs143069395 TOM1L2 Synonymous SNV P153P 0.003 0 0 0 3 0 0 0 0 0 0 0 17.2 132866 chr17 1945377 1945377 G A OVCA2 Synonymous SNV L12L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.05 132867 chr17 19561143 19561143 - A rs1057517190 ALDH3A2 Frameshift insertion I257Nfs*6 0 0.008 0 0 0 3 0 0 0 0 0 0 132868 chr15 43769851 43769851 A G rs61751060 TP53BP1 Nonsynonymous SNV S299P 0.009 0.018 0.01 3 11 7 0.008 3 0 0 0 0 Benign 23.9 132869 chr17 4448940 4448940 G A rs899440 MYBBP1A Nonsynonymous SNV H680Y 0.001 0 0.01 0 1 0 0 3 0 0 0 0 23.2 132870 chr15 43820444 43820444 G T rs746178952 MAP1A Nonsynonymous SNV G2258V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 132871 chr15 44086101 44086101 G A rs745381980 SERF2 Synonymous SNV L148L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.121 132872 chr17 4461979 4461979 C A GGT6 Synonymous SNV G239G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.91 132873 chr19 1371182 1371182 C T rs1003434584 PWWP3A Synonymous SNV A629A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.311 132874 chr16 88782417 88782417 C T rs58548913 PIEZO1 Nonsynonymous SNV D2414N 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 0.017 132875 chr15 48500263 48500263 G A rs34819316 SLC12A1 Nonsynonymous SNV R116H 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 132876 chr16 88800373 88800375 TCC - rs572934641 PIEZO1 E756del 0.004 0.008 0 0 5 3 0 0 0 0 0 0 132877 chr15 51397258 51397258 G A rs748778783 TNFAIP8L3 Nonsynonymous SNV T39M 0.003 0 0 0 3 0 0 0 0 0 0 0 10.62 132878 chr5 145252496 145252496 A G rs148032782 GRXCR2 Synonymous SNV S12S 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 0.007 132879 chr17 39881150 39881150 C T HAP1 Nonsynonymous SNV V538M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 132880 chr17 4719182 4719182 - ACCG PLD2 Frameshift insertion L472Pfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 132881 chr17 4719193 4719193 T C rs961665480 PLD2 Synonymous SNV T473T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.046 132882 chr17 12032533 12032533 A G MAP2K4 Synonymous SNV G323G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.72 132883 chr17 2239008 2239008 C G rs765142263 TSR1 Nonsynonymous SNV R73T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 132884 chr17 1382976 1382976 G A rs749624381 MYO1C Synonymous SNV S310S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.6 132885 chr19 17322950 17322950 G A rs200913002 MYO9B Nonsynonymous SNV R2102H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 132886 chr17 27451691 27451691 C T rs751123270 MYO18A Nonsynonymous SNV A339T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 132887 chr17 30694946 30694946 A G ZNF207 Synonymous SNV P328P 0.001 0.01 0 0 1 4 0 0 0 0 0 0 7.949 132888 chr17 30821833 30821833 G C rs200185034 MYO1D Nonsynonymous SNV Q989E 0.001 0.01 0 0 1 4 0 0 0 0 0 0 0.001 132889 chr17 48628087 48628087 G A rs371006368 SPATA20 Nonsynonymous SNV A382T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 132890 chr19 1615796 1615796 G A rs2074888 TCF3 Nonsynonymous SNV A492V 0.012 0.008 0.007 5 14 3 0.013 2 0 0 0 0 10.4 132891 chr17 41977914 41977914 C G MPP2 Nonsynonymous SNV G3R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 132892 chr17 4880375 4880375 T C rs768799994 CAMTA2 Synonymous SNV Q628Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.546 132893 chr17 32904409 32904409 T - C17orf102 0 0.008 0 0 0 3 0 0 0 0 0 0 132894 chr17 29483108 29483108 C T rs17881168 NF1 Synonymous SNV S56S 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign 16.69 132895 chr17 33446607 33446607 C G rs140825795 RAD51D Nonsynonymous SNV C9S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 132896 chr19 17949090 17949090 A T rs143936463 JAK3 Synonymous SNV P517P 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 132897 chr19 1816537 1816537 C T REXO1 Nonsynonymous SNV D1117N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 132898 chr15 65553237 65553237 C T rs144462395 PARP16 Synonymous SNV Q158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 132899 chr17 4463713 4463713 A G rs62066362 GGT6 Nonsynonymous SNV L35P 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 23.1 132900 chr17 4463716 4463716 G A rs62066363 GGT6 Nonsynonymous SNV A34V 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 0.055 132901 chr17 56349062 56349062 C T rs182814920 MPO Nonsynonymous SNV A662T 0.002 0.005 0 6 2 2 0.015 0 0 0 0 0 26.4 132902 chr17 45017949 45017949 C G GOSR2 Nonsynonymous SNV H156Q 0.003 0 0 0 3 0 0 0 0 0 0 0 4.2 132903 chr15 65623824 65623824 C T rs145517551 IGDCC3 Nonsynonymous SNV R441H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 132904 chr19 18313515 18313515 C T rs2280342 RAB3A Synonymous SNV K12K 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 14.62 132905 chr19 18376247 18376247 G C rs775826054 IQCN Synonymous SNV T701T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 132906 chr19 18377791 18377791 T C rs146146831 IQCN Nonsynonymous SNV M187V 0.009 0.013 0.017 4 11 5 0.01 5 0 0 0 0 0.012 132907 chr19 18979580 18979580 G A GDF1 Synonymous SNV L315L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.223 132908 chr17 46030458 46030458 T C rs142110724 PRR15L Nonsynonymous SNV N48S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.075 132909 chr19 19337427 19337427 C T rs542551324 NCAN Nonsynonymous SNV P402L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.79 132910 chr15 68619114 68619114 T C rs200830381 ITGA11 Nonsynonymous SNV M697V 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 21.5 132911 chr17 61513082 61513082 G A rs771828515 CYB561 Synonymous SNV C124C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.6 132912 chr19 1802625 1802625 C T rs150729522 ATP8B3 Synonymous SNV A255A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.1 132913 chr19 21566188 21566271 AATTCATGCTGGAGAGAAACACTACAAATGTGAAAAATGTGGCAAAGATTTTAAACAGTCCTCACACCTTACTAAACATAAGAC - ZNF738 H287_K314del 0 0 0.034 0 0 0 0 10 0 0 4 0 132914 chr19 2933889 2933889 C T rs754576718 ZNF77 Synonymous SNV E412E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 132915 chr17 48614385 48614385 G A rs77651559 EPN3 Synonymous SNV L156L 0.004 0 0 0 5 0 0 0 0 0 0 0 5.462 132916 chr17 38548848 38548848 C T rs771962850 TOP2A Nonsynonymous SNV R1318Q 0 0.01 0 0 0 4 0 0 0 0 0 0 25.1 132917 chr17 38785194 38785194 C T rs142193069 SMARCE1 Nonsynonymous SNV G360D 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 25.1 132918 chr16 11829977 11829977 G A rs867372319 TXNDC11 Nonsynonymous SNV R123W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 132919 chr17 38953412 38953412 T C rs539352524 KRT28 Nonsynonymous SNV E271G 0 0.01 0 0 0 4 0 0 0 0 0 0 26.2 132920 chr19 35422772 35422772 G A rs146842588 ZNF30 Nonsynonymous SNV G12E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 4.423 132921 chr19 35449172 35449172 G A rs117362457 ZNF792 Synonymous SNV T529T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.11 132922 chr17 56272501 56272501 C A rs35617692 EPX Stop gain C257X 0.011 0.005 0.01 1 13 2 0.003 3 0 0 0 0 Benign 34 132923 chr17 27591572 27591572 A G NUFIP2 Synonymous SNV D691D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.189 132924 chr17 39502394 39502394 G A rs746362358 KRT33A Nonsynonymous SNV P398S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 132925 chr19 36216231 36216231 C T rs536830676 KMT2B Synonymous SNV H1213H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 132926 chr17 39633389 39633389 C T rs374763543 KRT35 Synonymous SNV A429A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.6 132927 chr17 39723877 39723877 C A rs149321431 KRT9 Nonsynonymous SNV G507V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.2 132928 chr17 39723878 39723878 C G rs144649847 KRT9 Nonsynonymous SNV G507R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.3 132929 chr6 7182266 7182266 A G rs146499254 RREB1 Nonsynonymous SNV K41R 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 9.989 132930 chr6 7230559 7230559 G A rs147574604 RREB1 Nonsynonymous SNV E743K 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 24.9 132931 chr17 39681195 39681195 C T rs117671585 KRT19 Nonsynonymous SNV R187H 0.003 0.008 0 0 4 3 0 0 0 0 0 0 33 132932 chr6 7542236 7542236 G A rs121912998 DSP Nonsynonymous SNV V30M 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 132933 chr16 21060892 21060892 C G rs539798967 DNAH3 Nonsynonymous SNV E1441Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 132934 chr6 7580989 7580989 G A DSP Synonymous SNV T1522T 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 0.703 132935 chr17 39887969 39887969 T G rs146404340 HAP1 Nonsynonymous SNV Q316P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.033 132936 chr17 35348156 35348156 G A AATF Synonymous SNV Q466Q 0 0 0 2 0 0 0.005 0 0 0 0 0 9.278 132937 chr17 3567025 3567025 G A rs761543066 P2RX5-TAX1BP3 0 0 0 1 0 0 0.003 0 0 0 0 0 2.506 132938 chr16 21734226 21734226 G A rs775686301 OTOA Nonsynonymous SNV V279I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 132939 chr19 3721895 3721895 C T TJP3 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 132940 chr17 6386868 6386868 T C rs771713034 PITPNM3 Nonsynonymous SNV I150V 0.003 0 0 0 4 0 0 0 0 0 0 0 11.89 132941 chr17 73975139 73975139 G A rs141670654 ACOX1 Nonsynonymous SNV R6C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 132942 chr17 40010572 40010572 G A rs140333312 KLHL11 Nonsynonymous SNV T516I 0 0.01 0 1 0 4 0.003 0 0 0 0 0 21.9 132943 chr17 40822354 40822354 T C rs191577108 PLEKHH3 Nonsynonymous SNV D532G 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24 132944 chr17 40845395 40845395 G A rs151308193 CNTNAP1 Nonsynonymous SNV G945S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 132945 chr17 40948319 40948319 C T rs56116165 WNK4 Nonsynonymous SNV R868C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 33 132946 chr17 41001278 41001278 C T rs141488195 AOC2 Synonymous SNV N588N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.73 132947 chr17 4080553 4080553 G A ANKFY1 Synonymous SNV N923N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.9 132948 chr17 41174175 41174175 G A rs374352088 VAT1 Synonymous SNV G55G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 13.04 132949 chr6 20739838 20739838 A G rs756913034 CDKAL1 Nonsynonymous SNV I154V 0.006 0.008 0 5 7 3 0.013 0 0 0 0 0 2.222 132950 chr15 90185491 90185491 C T rs202089770 KIF7 Synonymous SNV E779E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 10.42 132951 chr16 27221524 27221524 C T rs34614782 KDM8 Nonsynonymous SNV P65L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 132952 chr19 38872816 38872816 C G PSMD8 Nonsynonymous SNV T288S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 132953 chr17 42987517 42987517 G A rs767021862 GFAP Nonsynonymous SNV P428L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.235 132954 chr19 39230793 39230793 G A rs147042758 CAPN12 Synonymous SNV G209G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.34 132955 chr17 424942 424942 G A VPS53 Nonsynonymous SNV L708F 0.005 0 0 1 6 0 0.003 0 0 0 0 0 27.5 132956 chr17 38253361 38253361 - TCC rs778452400 NR1D1 E108_D109insE 0.005 0 0 2 6 0 0.005 0 0 0 0 0 132957 chr17 4443760 4443760 G A rs142989122 MYBBP1A Nonsynonymous SNV T1106M 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 Likely benign 19.09 132958 chr19 38102889 38102889 T C ZNF540 Synonymous SNV F204F 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.428 132959 chr19 4028840 4028840 C T rs148838008 PIAS4 Synonymous SNV Y265Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 132960 chr16 30770762 30770762 G A rs117306997 CCDC189 Synonymous SNV I186I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.64 132961 chr19 3827582 3827582 G A ZFR2 Nonsynonymous SNV P308S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.524 132962 chr15 98984375 98984375 G A rs73463586 FAM169B Synonymous SNV S128S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.74 132963 chr17 4575776 4575776 C T rs754984345 PELP1 Nonsynonymous SNV G837E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 132964 chr17 46670811 46670811 C G rs370630262 HOXB5 Synonymous SNV A78A 0 0.005 0 0 0 2 0 0 0 0 0 0 12.05 132965 chr16 31102495 31102495 C T rs199952041 VKORC1 Nonsynonymous SNV R151Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.902 132966 chr17 77082067 77082067 C T rs201600533 ENGASE Nonsynonymous SNV T623I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.21 132967 chr19 41242984 41242984 G A rs376866891 ITPKC Nonsynonymous SNV V590I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.49 132968 chr19 39221807 39221807 G C rs760050915 CAPN12 Nonsynonymous SNV R672G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 132969 chr16 3169321 3169321 C T rs59049520 ZNF205 Synonymous SNV P220P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 132970 chr16 3188789 3188789 G A rs35931391 ZNF213 Synonymous SNV T189T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.471 132971 chr19 41903222 41903222 C T rs145189417 EXOSC5 Synonymous SNV E4E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.938 132972 chr16 3254622 3254622 G A rs8045183 OR1F1 Nonsynonymous SNV V126M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 22.6 132973 chr16 3282468 3282468 G A rs9302870 ZNF200 Nonsynonymous SNV T140M 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 11.83 132974 chr19 39908315 39908315 C T PLEKHG2 Nonsynonymous SNV H230Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28 132975 chr19 40541325 40541325 C A ZNF780B Nonsynonymous SNV A481S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 132976 chr16 3705380 3705380 G T rs8176927 DNASE1 Nonsynonymous SNV R2S 0.015 0.013 0.007 6 18 5 0.015 2 0 0 0 0 7.912 132977 chr19 4054702 4054702 C T rs3745985 ZBTB7A Nonsynonymous SNV A177T 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 16.18 132978 chr16 3706697 3706697 G A rs8176919 DNASE1 Nonsynonymous SNV G127R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 30 132979 chr16 14340822 14340822 G A MRTFB Nonsynonymous SNV E558K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 132980 chr19 41078089 41078089 T G SPTBN4 Nonsynonymous SNV F2495C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.3 132981 chr17 48764949 48764949 C T rs547523159 ABCC3 Nonsynonymous SNV R1445C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 132982 chr19 44056341 44056341 T C rs25490 XRCC1 Nonsynonymous SNV T304A 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign 0.014 132983 chr19 44223536 44223536 G A rs147576016 IRGC Nonsynonymous SNV V276I 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 8.894 132984 chr16 15128153 15128153 A C rs117719642 PDXDC1 Nonsynonymous SNV N581T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.7 132985 chr16 46652227 46652227 G C rs76534624 SHCBP1 Nonsynonymous SNV S54C 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Benign 9.06 132986 chr16 16256866 16256866 G A rs72653744 ABCC6 Stop gain R1164X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 44 132987 chr17 48701789 48701789 C T rs201079826 CACNA1G Nonsynonymous SNV P1973S 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 Likely benign 6.71 132988 chr16 16284116 16284116 C T rs59157279 ABCC6 Nonsynonymous SNV V514I 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Pathogenic 12.02 132989 chr17 79633455 79633455 G A rs562437126 OXLD1 Synonymous SNV P51P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.406 132990 chr19 42474387 42474387 G A rs782674903 ATP1A3 Nonsynonymous SNV T842M 0.002 0 0 0 2 0 0 0 0 0 0 0 24 132991 chr17 56435820 56435820 C T rs767663775 RNF43 Synonymous SNV R312R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.733 132992 chr17 4060271 4060271 G A rs959151593 CYB5D2 Nonsynonymous SNV M118I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 132993 chr19 44351432 44351432 A G rs200156604 ZNF283 Nonsynonymous SNV R88G 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.9 132994 chr17 80478064 80478064 C T rs755846055 FOXK2 Synonymous SNV P100P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.48 132995 chr17 42290295 42290295 G A rs372346290 UBTF Synonymous SNV P184P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.439 132996 chr16 55705964 55705964 C T SLC6A2 Nonsynonymous SNV T69I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 132997 chr16 2285306 2285306 C T rs373947740 E4F1 Synonymous SNV D519D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.542 132998 chr17 42979917 42979917 A C rs145457535 CCDC103 Nonsynonymous SNV H154P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.16 132999 chr16 56530910 56530910 C T rs149473225 BBS2 Nonsynonymous SNV G627R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 133000 chr19 44471316 44471322 GGTCCAC - rs775835540 ZNF221 V555Gfs*22 0.002 0 0 0 2 0 0 0 0 0 0 0 133001 chr17 45455151 45455151 C A rs202011177 EFCAB13 Synonymous SNV I368I 0 0 0 2 0 0 0.005 0 0 0 0 0 11.54 133002 chr17 8172277 8172277 G T rs145272400 PFAS Nonsynonymous SNV V1238L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 7.713 133003 chr16 56660649 56660649 C T rs182290972 MT1E Synonymous SNV P100P 0.004 0 0 0 5 0 0 0 0 0 0 0 6.211 133004 chr19 44514741 44514741 C T rs112504832 ZNF230 Nonsynonymous SNV R184C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.18 133005 chr17 45909538 45909538 C G rs201308324 LRRC46 Nonsynonymous SNV T28S 0 0 0 2 0 0 0.005 0 0 0 0 0 16.69 133006 chr19 44570460 44570460 T C rs140843501 ZNF223 Nonsynonymous SNV M160T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 133007 chr19 44589979 44589979 C T rs112265411 ZNF284 Synonymous SNV D116D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.307 133008 chr17 44060834 44060834 C A rs150983093 MAPT Nonsynonymous SNV R222S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 28.9 133009 chr17 882673 882673 C T rs780529510 NXN Synonymous SNV P82P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.29 133010 chr19 44611317 44611317 G A rs146100025 ZNF224 Nonsynonymous SNV R335H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.281 133011 chr19 46176129 46176129 C T rs367687469 GIPR Nonsynonymous SNV R65C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 133012 chr19 44636456 44636456 C T rs62640912 ZNF225 Synonymous SNV T563T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.887 133013 chr19 44777339 44777339 T C rs143314190 ZNF233 Synonymous SNV L176L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.03 133014 chr17 45017921 45017921 G C rs147434599 GOSR2 Nonsynonymous SNV G147A 0.008 0.008 0 1 9 3 0.003 0 0 0 0 0 Uncertain significance 0.103 133015 chr17 62502382 62502382 T C rs554113724 DDX5 0.003 0 0 0 3 0 0 0 0 0 0 0 6 133016 chr19 44847448 44847448 C T rs146556888 ZNF112 Synonymous SNV L8L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.603 133017 chr17 651196 651196 C T rs745934174 GEMIN4 Synonymous SNV K29K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.5 133018 chr16 67222828 67222828 A T rs117403380 EXOC3L1 Nonsynonymous SNV Y75N 0.005 0 0.003 3 6 0 0.008 1 0 0 0 0 28.4 133019 chr16 29998978 29998978 G A rs78092725 TAOK2 Nonsynonymous SNV V1129I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.2 133020 chr17 78219990 78219990 G A rs758522694 SLC26A11 Nonsynonymous SNV A379T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 133021 chr17 48614188 48614188 C T rs150974156 EPN3 Nonsynonymous SNV R91W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 133022 chr19 48744266 48744266 - T rs759553123 CARD8 Frameshift insertion E5Gfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 133023 chr19 49114096 49114096 G A rs555885998 FAM83E Synonymous SNV A158A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 133024 chr16 31099011 31099011 T C rs11150606 PRSS53 Nonsynonymous SNV Q30R 0.006 0.003 0.007 2 7 1 0.005 2 1 0 0 0 22.5 133025 chr16 31235817 31235817 A C TRIM72 Nonsynonymous SNV E392A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 133026 chr6 74491002 74491002 G T rs7742662 CD109 Nonsynonymous SNV L564F 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Benign 13 133027 chr6 75841754 75841754 G T rs191233787 COL12A1 Nonsynonymous SNV P783T 0.003 0 0 5 3 0 0.013 0 0 0 0 0 Uncertain significance 18.89 133028 chr17 79988617 79988617 T G LRRC45 Nonsynonymous SNV L650R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 31 133029 chr17 80014733 80014733 C T rs148378729 GPS1 Synonymous SNV D424D 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 12.04 133030 chr18 3135644 3135644 C T rs149528866 MYOM1 Nonsynonymous SNV E704K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 35 133031 chr18 3215083 3215083 T C rs202145133 MYOM1 Nonsynonymous SNV S47G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 19.95 133032 chr6 88125455 88125455 T C rs140349777 CFAP206 Nonsynonymous SNV V112A 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 21.8 133033 chr17 80788726 80788726 A C rs35792712 ZNF750 Synonymous SNV P488P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 0.003 133034 chr17 80858576 80858576 C T rs145180850 TBCD Synonymous SNV L567L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 12.35 133035 chr17 80914600 80914600 G T rs57857201 B3GNTL1 Synonymous SNV R148R 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 8.773 133036 chr17 80915321 80915321 G A rs61741987 B3GNTL1 Nonsynonymous SNV P81S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.006 133037 chr17 80923572 80923572 C T rs78357976 B3GNTL1 Synonymous SNV S7S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 9.717 133038 chr19 48977249 48977249 C T rs755760100 CYTH2 Synonymous SNV C174C 0.002 0 0 0 2 0 0 0 0 0 0 0 13.84 133039 chr17 73517915 73517915 G T rs375386151 TSEN54 Nonsynonymous SNV M251I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.002 133040 chr17 63677 63677 G C rs764117946 RPH3AL Nonsynonymous SNV A276G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.101 133041 chr17 56345295 56345295 C T rs149585110 LPO Synonymous SNV F610F 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 11 133042 chr17 73840320 73840320 C T rs147886860 UNC13D Synonymous SNV P33P 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 16.13 133043 chr17 73840395 73840395 C T rs143320460 UNC13D Synonymous SNV P8P 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.52 133044 chr17 73897344 73897344 G A rs79354765 MRPL38 Nonsynonymous SNV A201V 0.002 0.003 0.024 1 2 1 0.003 7 0 0 0 0 21.4 133045 chr17 73918072 73918072 C T rs61744136 FBF1 Nonsynonymous SNV G494R 0.002 0.003 0.014 1 2 1 0.003 4 0 0 0 0 22.9 133046 chr17 73975075 73975075 G A rs145082938 ACOX1 Nonsynonymous SNV P27L 0.004 0.003 0.02 2 5 1 0.005 6 0 0 1 0 Conflicting interpretations of pathogenicity 23 133047 chr17 73987658 73987658 G A rs200875806 TEN1 Synonymous SNV Q68Q 0.004 0.003 0.017 1 5 1 0.003 5 0 0 1 0 Benign 15.12 133048 chr17 73997455 73997455 C T rs199931467 TEN1-CDK3 0.004 0.003 0.017 1 5 1 0.003 5 0 0 1 0 5.596 133049 chr17 73999321 73999322 CT - rs922863037 CDK3 F213Sfs*22 0.002 0 0 1 2 0 0.003 0 0 0 0 0 133050 chr6 108831474 108831474 A G AFG1L Synonymous SNV R374R 0 0 0 2 0 0 0.005 0 0 0 0 0 9.023 133051 chr17 74155452 74155452 C T RNF157 Nonsynonymous SNV S423N 0 0 0 0 0 0 0 0 0 0 0 0 16.37 133052 chr17 74155454 74155454 G T RNF157 Nonsynonymous SNV S422R 0 0 0 0 0 0 0 0 0 0 0 0 16.14 133053 chr17 74005700 74005700 C T rs144978675 EVPL Nonsynonymous SNV V1218I 0.004 0.003 0.017 1 5 1 0.003 5 0 0 1 0 5.384 133054 chr17 74010607 74010607 C G rs142251448 EVPL Nonsynonymous SNV C780S 0.004 0.003 0.017 1 5 1 0.003 5 0 0 1 0 7.966 133055 chr17 74039976 74039976 A G rs144361541 SRP68 Synonymous SNV Y147Y 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 6.76 133056 chr17 59885968 59885968 T C rs138743097 BRIP1 Nonsynonymous SNV T260A 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.53 133057 chr17 7490761 7490761 G C rs148586387 MPDU1 X193S 0 0.005 0 0 0 2 0 0 0 0 0 0 9.206 133058 chr17 72306270 72306270 C T rs61736879 DNAI2 Nonsynonymous SNV L476F 0 0 0 4 0 0 0.01 0 0 0 0 0 Benign/Likely benign 11.52 133059 chr17 77079854 77079854 A G rs61729127 ENGASE Synonymous SNV V421V 0.009 0.005 0.014 5 11 2 0.013 4 0 0 1 0 9.525 133060 chr19 54238208 54238208 C T rs74704964 MIR518D 0 0 0.031 0 0 0 0 9 0 0 0 0 5.922 133061 chr19 52327307 52327307 T C rs201037671 FPR3 Synonymous SNV H102H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.004 133062 chr17 72694550 72694550 C T rs148594652 CD300LF Nonsynonymous SNV A188T 0 0 0 4 0 0 0.01 0 0 0 0 0 15.98 133063 chr19 52497739 52497739 G A rs369585230 ZNF615 Nonsynonymous SNV T202I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 133064 chr17 78165265 78165265 G A rs769603509 CARD14 Synonymous SNV P174P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 8.79 133065 chr17 7187307 7187307 C G SLC2A4 Nonsynonymous SNV L155V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.06 133066 chr19 53085929 53085929 G A rs374329518 ZNF701 Nonsynonymous SNV R206Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.002 133067 chr16 70506885 70506885 G C rs201291016 FCSK 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.5 133068 chr19 1000479 1000479 C T rs190077992 GRIN3B Synonymous SNV L15L 0.004 0.005 0 1 5 2 0.003 0 1 0 0 0 10.98 133069 chr19 1004709 1004709 A G rs76827013 GRIN3B Synonymous SNV A403A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 0.002 133070 chr17 79205775 79205775 C T rs151140575 TEPSIN Synonymous SNV L191L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 12.23 133071 chr17 79193727 79193727 G A rs145522664 CEP131 Nonsynonymous SNV R44C 0.003 0.01 0.003 5 4 4 0.013 1 0 0 0 0 33 133072 chr18 56033377 56033377 T C rs202013710 NEDD4L Synonymous SNV Y519Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.787 133073 chr17 7320544 7320544 C T rs778180842 NLGN2 Nonsynonymous SNV P645L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 133074 chr16 72828304 72828304 C A rs2229288 ZFHX3 Nonsynonymous SNV Q1845H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.18 133075 chr17 79918691 79918691 T C NOTUM Nonsynonymous SNV Q32R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.93 133076 chr19 55481548 55481548 G T rs780287120 NLRP2 Synonymous SNV L55L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 1.98 133077 chr17 80017824 80017824 G A rs766852189 DUS1L Nonsynonymous SNV P390S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.3 133078 chr19 1046907 1046950 CTGCGGGACACCATGCGCGCCATGGGGCTCAGCCGCGCGGTGCT - rs142076058 ABCA7 R578Afs*171 0.004 0.005 0 0 5 2 0 0 0 0 0 0 133079 chr17 80146285 80146285 G A CCDC57 Nonsynonymous SNV L288F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29.2 133080 chr17 80391591 80391591 A G rs762125074 HEXD Nonsynonymous SNV T22A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.33 133081 chr19 56734078 56734078 G A rs746211159 ZSCAN5A Synonymous SNV D90D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.906 133082 chr19 1082844 1082844 C T rs115553053 ARHGAP45 Synonymous SNV P476P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.15 133083 chr19 1093976 1093976 C T rs75657655 POLR2E Synonymous SNV P53P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 16.71 133084 chr6 158923961 158923961 C T rs140116628 TULP4 Nonsynonymous SNV T1089M 0 0 0.003 3 0 0 0.008 1 0 0 0 0 20.6 133085 chr17 1704162 1704162 T C rs149682118 SMYD4 Nonsynonymous SNV T176A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.032 133086 chr19 57723921 57723921 G A rs115484981 ZNF264 Nonsynonymous SNV V486M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.38 133087 chr19 11685998 11685998 G A rs199986980 ACP5 Nonsynonymous SNV R269W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 23.4 133088 chr19 57888549 57888549 G T rs771687206 ZNF547 Nonsynonymous SNV V69L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.307 133089 chr19 12224197 12224197 A G ZNF788P Nonsynonymous SNV K612R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.5 133090 chr19 1235819 1235819 G A rs145691287 CBARP Synonymous SNV L68L 0.006 0.003 0.014 0 7 1 0 4 0 0 0 0 9.112 133091 chr17 19555034 19555034 G A rs144287421 ALDH3A2 Nonsynonymous SNV A110T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 133092 chr18 12986959 12986959 C A SEH1L Nonsynonymous SNV S390Y 0.005 0 0 0 6 0 0 0 0 0 0 0 23.5 133093 chr16 84516314 84516314 C A rs935953148 MEAK7 Nonsynonymous SNV D321Y 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 133094 chr19 6415735 6415735 A G rs145698454 KHSRP Synonymous SNV A566A 0.012 0.023 0.031 5 14 9 0.013 9 0 0 1 0 8.325 133095 chr6 168376881 168376918 TGGGGGAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCA - rs746149758 HGC6.3 C139Tfs*6 0.003 0.003 0 1 4 1 0.003 0 1 0 0 0 133096 chr6 168376924 168376968 TGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT - rs773489020 HGC6.3 Q122_T137delinsP 0.003 0.003 0 1 4 1 0.003 0 1 0 0 0 133097 chr6 168376993 168376993 T C rs36129172 HGC6.3 Nonsynonymous SNV M114V 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 0.97 133098 chr6 168377010 168377024 GGGGAGGAGAAGACA - rs775065744 HGC6.3 V104_P108del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 133099 chr6 168377027 168377051 GGGGGTCATTCCCCCTGCAGTGTGG - HGC6.3 H95Lfs*12 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 133100 chr6 168377060 168377095 GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG - HGC6.3 P80_F91del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 133101 chr6 168377101 168377106 AGAAGA - HGC6.3 V76_S78delinsA 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 133102 chr18 9257241 9257241 A G rs145949539 ANKRD12 Nonsynonymous SNV I1303V 0.004 0.013 0.003 4 5 5 0.01 1 0 0 0 0 0.003 133103 chr18 22020525 22020525 T C rs140866439 IMPACT Nonsynonymous SNV C145R 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 9.612 133104 chr19 7184611 7184611 G A rs373720760 INSR Synonymous SNV A230A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 133105 chr17 78064009 78064009 C A CCDC40 Stop gain C968X 0.001 0 0 0 1 0 0 0 0 0 0 0 5.519 133106 chr17 78083783 78083783 A G GAA Nonsynonymous SNV R456G 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 6.212 133107 chr17 78201726 78201726 C T rs766417800 SLC26A11 Nonsynonymous SNV L235F 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 9.023 133108 chr19 7976407 7976407 G A rs370087443 MAP2K7 Synonymous SNV P348P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 133109 chr16 88782216 88782216 C T rs532748737 PIEZO1 Nonsynonymous SNV V2455M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 133110 chr19 58773815 58773815 C T rs79258645 ZNF544 Stop gain R587X 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 35 133111 chr19 58946057 58946057 G A ZNF132 Nonsynonymous SNV P252S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.009 133112 chr16 8895684 8895684 T G rs104894533 PMM2 Nonsynonymous SNV L32R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 26.4 133113 chr16 8895685 8895685 A C rs772136659 PMM2 Synonymous SNV L32L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.015 133114 chr17 7915536 7915536 G A rs765774591 GUCY2D Synonymous SNV A608A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.568 133115 chr19 10464812 10464812 G C rs763629813 TYK2 Synonymous SNV P938P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.57 133116 chr19 8575763 8575771 GGCCGCGGG - rs759603808 ZNF414 P355_A357del 0 0 0.007 0 0 0 0 2 0 0 0 0 133117 chr19 863183 863183 G A CFD Nonsynonymous SNV G243E 0 0 0.007 0 0 0 0 2 0 0 0 0 31 133118 chr17 79571726 79571726 A G NPLOC4 Nonsynonymous SNV F228L 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 25.6 133119 chr19 8808930 8808930 A G ACTL9 Nonsynonymous SNV V41A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.086 133120 chr18 45778845 45778845 G A rs191572625 C18orf12 Synonymous SNV S58S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.082 133121 chr18 13826678 13826678 C T rs143262370 MC5R Nonsynonymous SNV T305I 0.003 0.003 0.007 12 4 1 0.031 2 0 0 0 0 21.3 133122 chr17 33591769 33591769 G A rs200226704 SLFN5 Nonsynonymous SNV R569H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.069 133123 chr17 80213428 80213428 G A rs11552086 CSNK1D Synonymous SNV C71C 0.01 0.008 0 4 12 3 0.01 0 0 0 0 0 Benign 12.86 133124 chr17 8138099 8138099 G T rs201560353 CTC1 Nonsynonymous SNV L529I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 23.3 133125 chr17 8194781 8194781 T C rs369132233 SLC25A35 Nonsynonymous SNV E133G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.23 133126 chr18 60036429 60036429 G A rs201402594 TNFRSF11A Nonsynonymous SNV D413N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.33 133127 chr17 9604923 9604923 G A rs763286369 USP43 Synonymous SNV P639P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.643 133128 chr19 14043843 14043843 C T rs80103045 PODNL1 Nonsynonymous SNV R314H 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 21.8 133129 chr17 36484564 36484564 C G rs149998444 GPR179 Nonsynonymous SNV E1630Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.002 133130 chr19 14508026 14508026 G A rs369840270 ADGRE5 Nonsynonymous SNV V206I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 133131 chr17 36872024 36872024 G A rs146278240 MLLT6 Nonsynonymous SNV A327T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 18.24 133132 chr17 36872922 36872922 G T rs145966494 MLLT6 Nonsynonymous SNV A447S 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 6.782 133133 chr19 18649227 18649227 G C rs113307565 FKBP8 Nonsynonymous SNV P190A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.63 133134 chr17 17751036 17751036 C T rs772504166 TOM1L2 Synonymous SNV S361S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.41 133135 chr17 37903005 37903005 G T rs766530204 GRB7 Nonsynonymous SNV S485I 0.004 0 0 0 5 0 0 0 0 0 0 0 22 133136 chr18 19085878 19085878 C T rs927568032 GREB1L Nonsynonymous SNV R1446C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 133137 chr18 48248453 48248453 T C rs16952476 MAPK4 Synonymous SNV P68P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.026 133138 chr18 48326494 48326494 T C rs138052036 MRO Nonsynonymous SNV Q150R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.52 133139 chr18 67684768 67684768 T C rs201317359 RTTN Nonsynonymous SNV D1187G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.963 133140 chr19 19748284 19748284 G C rs780922728 GMIP Synonymous SNV P338P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.237 133141 chr19 2039779 2039779 C A rs780346937 MKNK2 Stop gain E411X 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 42 133142 chr19 15756607 15756607 G A CYP4F3 Nonsynonymous SNV G93R 0.009 0 0 0 10 0 0 0 0 0 0 0 24.7 133143 chr1 10702991 10702991 C T rs770207190 CASZ1 Nonsynonymous SNV A1363T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 133144 chr19 16268421 16268421 A G rs199804128 HSH2D Nonsynonymous SNV K267R 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 8.305 133145 chr18 3084007 3084007 A G rs16944397 MYOM1 Nonsynonymous SNV M1357T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 0.005 133146 chr18 3129351 3129351 C G rs115240600 MYOM1 Synonymous SNV L891L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.89 133147 chr19 10106294 10106294 C T COL5A3 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 133148 chr7 45960509 45960509 C G IGFBP3 Nonsynonymous SNV E77D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.8 133149 chr1 112998936 112998936 G A rs141621932 CTTNBP2NL Synonymous SNV V274V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.88 133150 chr18 34802028 34802028 T C KIAA1328 Synonymous SNV S416S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.013 133151 chr18 65178438 65178438 T C DSEL Synonymous SNV K1136K 0.006 0 0 2 7 0 0.005 0 0 0 0 0 9.754 133152 chr18 42532923 42532923 T C rs34882016 SETBP1 Synonymous SNV H1206H 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 Benign 3.178 133153 chr19 17688191 17688191 C T COLGALT1 Nonsynonymous SNV R350W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.4 133154 chr19 17783275 17783275 G A rs140141294 UNC13A Nonsynonymous SNV T61M 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23.3 133155 chr1 117102649 117102649 C T rs1414273 MIR548AC 0 0 0.02 0 0 0 0 6 0 0 1 0 6.085 133156 chr19 17955204 17955204 G A rs145500023 JAK3 Nonsynonymous SNV T8M 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 24.5 133157 chr1 11775178 11775178 A T rs142338730 DRAXIN Nonsynonymous SNV T284S 0.01 0.01 0.01 8 12 4 0.021 3 0 0 0 0 6.321 133158 chr18 72178062 72178062 C T rs35740490 CNDP2 Synonymous SNV N73N 0.009 0.01 0 6 10 4 0.015 0 0 0 0 0 9.662 133159 chr1 103488445 103488445 G A rs369719875 COL11A1 Synonymous SNV D327D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.493 133160 chr17 32957099 32957099 G C TMEM132E Nonsynonymous SNV E471Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 133161 chr18 50592432 50592432 G A rs140711456 DCC Nonsynonymous SNV R386Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Likely benign 22.4 133162 chr1 119575743 119575743 G A rs201132666 WARS2 Nonsynonymous SNV R292C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 133163 chr18 51851090 51851090 C T rs147831274 STARD6 Nonsynonymous SNV R153H 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 12.19 133164 chr19 10426410 10426410 G A FDX2 Synonymous SNV D60D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.375 133165 chr17 33288855 33288855 G A ZNF830 Synonymous SNV Q90Q 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.025 133166 chr19 36051419 36051419 G A rs144868132 ATP4A Synonymous SNV P211P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.784 133167 chr17 33591832 33591832 G A SLFN5 Nonsynonymous SNV R590K 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.001 133168 chr1 109734442 109734442 C T rs762679826 KIAA1324 Nonsynonymous SNV T209M 0.004 0 0 1 5 0 0.003 0 0 0 0 0 19.81 133169 chr19 18898406 18898406 C T COMP Synonymous SNV K343K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 133170 chr19 36166813 36166813 G A rs35399814 UPK1A Synonymous SNV P180P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.925 133171 chr19 36211355 36211357 AAG - rs201152143 KMT2B E373del 0.002 0 0 0 2 0 0 0 0 0 0 0 133172 chr19 36224173 36224173 C T rs182222222 KMT2B Synonymous SNV G2241G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.531 133173 chr19 12155148 12155148 T C rs142252822 ZNF878 Nonsynonymous SNV I356M 0.008 0.01 0.007 0 9 4 0 2 0 0 0 0 0.001 133174 chr17 34182092 34182092 C T rs115378033 HEATR9 Nonsynonymous SNV R523Q 0.003 0 0 0 4 0 0 0 0 0 0 0 3.157 133175 chr19 20295183 20295183 G A ZNF486 Nonsynonymous SNV D17N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 133176 chr19 36497727 36497727 C T rs143940810 SYNE4 Synonymous SNV R181R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 14.94 133177 chr17 43319274 43319274 C T rs776860279 FMNL1 Nonsynonymous SNV P549L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.13 133178 chr19 36499149 36499149 G A rs373270664 SYNE4 Synonymous SNV Y83Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.914 133179 chr19 11224157 11224157 C T rs6413505 MIR6886 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 Benign 5.797 133180 chr19 36501476 36501476 G T rs61742166 ALKBH6 Nonsynonymous SNV T177K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.633 133181 chr19 11233886 11233886 C T rs45508991 LDLR Nonsynonymous SNV T558I 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.86 133182 chr19 11409560 11409560 A G rs149496880 TSPAN16 Nonsynonymous SNV M94V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 133183 chr1 150236079 150236079 G A rs374163690 CA14 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 133184 chr19 14580612 14580612 C G rs370875924 PKN1 Nonsynonymous SNV H734Q 0 0.005 0 0 0 2 0 0 0 0 0 0 12.94 133185 chr1 151016072 151016072 G T rs374574769 BNIPL Nonsynonymous SNV R158S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 133186 chr19 14829345 14829345 C T rs147332855 ZNF333 Synonymous SNV A171A 0 0.008 0 0 0 3 0 0 0 0 0 0 15.9 133187 chr1 151378522 151378522 G C POGZ Nonsynonymous SNV R902G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 133188 chr19 38028171 38028171 T C rs201677614 ZNF793 Nonsynonymous SNV M204T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 133189 chr17 46670872 46670872 C A rs754202918 HOXB5 Nonsynonymous SNV R58L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 133190 chr19 30500199 30500199 T C URI1 Nonsynonymous SNV L307S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.38 133191 chr17 38635987 38635987 G T TNS4 Nonsynonymous SNV P617T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 133192 chr19 38377750 38377750 G A rs180905815 WDR87 Synonymous SNV N2187N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.355 133193 chr19 15484861 15484861 T C rs200427700 AKAP8 Nonsynonymous SNV N36S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.76 133194 chr19 38384058 38384058 C T rs202153162 WDR87 Nonsynonymous SNV R762H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.81 133195 chr19 15565680 15565680 G C rs752325829 RASAL3 Nonsynonymous SNV I582M 0 0.008 0 0 0 3 0 0 0 0 0 0 0.032 133196 chr18 67672453 67672453 T C rs771068404 RTTN Synonymous SNV A1280A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.22 133197 chr19 38572678 38572678 C G rs201766021 SIPA1L3 Nonsynonymous SNV S158C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.3 133198 chr19 16688009 16688009 C T rs200056042 MED26 Nonsynonymous SNV R211H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.423 133199 chr19 39306940 39306940 C T rs115532911 ECH1 Nonsynonymous SNV G239S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.718 133200 chr17 39389185 39389185 T C rs773790796 KRTAP9-3 Synonymous SNV C144C 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 0.005 133201 chr17 39389205 39389205 A C rs114014201 KRTAP9-3 Nonsynonymous SNV Y151S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 2.184 133202 chr19 39360813 39360813 G C rs373342358 RINL Nonsynonymous SNV P371R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.143 133203 chr19 39370101 39370101 C A rs144472597 SIRT2 Synonymous SNV L292L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 133204 chr19 35512707 35512707 C T rs138099889 GRAMD1A Synonymous SNV H557H 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 13.14 133205 chr19 35556525 35556525 C T rs182763141 HPN Synonymous SNV N330N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.03 133206 chr1 12024800 12024800 G A rs139869965 PLOD1 Synonymous SNV K476K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.06 133207 chr17 48603335 48603335 G A rs192401899 MYCBPAP Nonsynonymous SNV D641N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.584 133208 chr18 77104320 77104320 A G rs141182661 ATP9B Nonsynonymous SNV D813G 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 133209 chr1 1225899 1225899 G A rs79943571 SCNN1D Nonsynonymous SNV R608Q 0.004 0.003 0.01 5 5 1 0.013 3 0 0 0 0 5.382 133210 chr1 1233973 1233973 G A rs939510624 ACAP3 Synonymous SNV A279A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.349 133211 chr1 156761540 156761540 C A rs17850664 PRCC Nonsynonymous SNV P379T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.823 133212 chr1 1374961 1374961 C T rs758041400 VWA1 Nonsynonymous SNV R378W 0.003 0.008 0.007 0 4 3 0 2 0 1 0 0 23.4 133213 chr1 156830742 156830742 C T rs201472270 NTRK1 Nonsynonymous SNV R6W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 133214 chr17 39671831 39671831 G A rs140276645 KRT15 Synonymous SNV C380C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.951 133215 chr19 17373368 17373368 T C rs45520737 USHBP1 Nonsynonymous SNV Q148R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.4 133216 chr19 36277861 36277861 G A rs746544347 ARHGAP33 Nonsynonymous SNV R694Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.067 133217 chr19 41190455 41190455 G T rs143941883 NUMBL Nonsynonymous SNV A39E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 133218 chr19 41198210 41198210 A G rs17851001 COQ8B Synonymous SNV Y414Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.079 133219 chr19 41223387 41223387 A T rs145275994 ITPKC Nonsynonymous SNV D116V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 133220 chr19 41248532 41248532 G A rs36071297 C19orf54 Synonymous SNV L116L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.793 133221 chr19 41884327 41884327 T C rs77399851 TMEM91 Nonsynonymous SNV I38T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.951 133222 chr19 41928927 41928927 C T rs548045051 BCKDHA Synonymous SNV D340D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.65 133223 chr19 41932459 41932459 C T rs7248964 B3GNT8 Synonymous SNV Q75Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.629 133224 chr17 56557545 56557545 C T rs150369529 HSF5 Nonsynonymous SNV D212N 0.003 0 0 0 3 0 0 0 0 0 0 0 8.034 133225 chr19 41949983 41949983 C T rs111840261 ERICH4 Nonsynonymous SNV R83W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 133226 chr17 56565617 56565617 T C rs201841352 HSF5 Nonsynonymous SNV T7A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.03 133227 chr17 40821962 40821962 G A rs372297726 PLEKHH3 Nonsynonymous SNV R663W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 133228 chr17 57272725 57272730 GTTACC - rs554356657 PRR11 T261_V262del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 133229 chr19 422229 422229 C T rs61750917 SHC2 Nonsynonymous SNV V513I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.07 133230 chr1 158735905 158735905 T G rs75984757 OR6N1 Nonsynonymous SNV T190P 0.004 0 0.017 0 5 0 0 5 0 0 0 0 24.9 133231 chr19 42373748 42373748 A G rs373069315 MIR6797 0.001 0 0 0 1 0 0 0 0 0 0 0 6.43 133232 chr19 42392310 42392310 C T rs2288509 ARHGEF1 Synonymous SNV I24I 0.005 0.013 0.017 1 6 5 0.003 5 0 1 1 0 16.07 133233 chr19 38378152 38378154 CTC - rs771055835 WDR87 E2053del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 133234 chr19 42584664 42584664 C T rs148289708 ZNF574 Nonsynonymous SNV H726Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.115 133235 chr19 42729306 42729308 GAG - rs367731450 ZNF526 E252del 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 133236 chr19 42730217 42730217 C T rs111722832 ZNF526 Synonymous SNV V554V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 8.744 133237 chr19 42799146 42799146 G A rs770823747 CIC Nonsynonymous SNV A1544T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 133238 chr19 4362679 4362679 C T SH3GL1 Synonymous SNV E213E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 133239 chr1 160156133 160156133 C T rs114357990 ATP1A4 Nonsynonymous SNV L149F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.424 133240 chr19 18468322 18468322 G A rs938483036 PGPEP1 Nonsynonymous SNV G35R 0.002 0 0 0 2 0 0 0 0 0 0 0 33 133241 chr19 20728039 20728122 GCTTAAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCGCTATGAATTATCTTATGCGCAGTAAGGATAGAGGAGC - ZNF737 R296_K323del 0 0.003 0 0 0 1 0 0 0 0 0 0 133242 chr19 18710562 18710562 G A rs572291511 CRLF1 Synonymous SNV T70T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.804 133243 chr19 44376914 44376914 T C rs115285093 ZNF404 Synonymous SNV Q481Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.013 133244 chr19 18964066 18964066 C A rs141051363 UPF1 Synonymous SNV R366R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.5 133245 chr17 43005646 43005646 G C rs202002436 KIF18B Nonsynonymous SNV P687R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 26.4 133246 chr17 648279 648279 A G rs61754585 GEMIN4 Nonsynonymous SNV Y1002H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.9 133247 chr17 64873507 64873507 T C rs146874664 CACNG5 Synonymous SNV C19C 0.009 0.013 0.01 0 10 5 0 3 0 0 0 0 Benign 0.06 133248 chr19 44500701 44500701 C T rs58537897 ZNF155 Nonsynonymous SNV P231L 0.005 0 0.007 4 6 0 0.01 2 0 0 0 0 26.8 133249 chr1 16558761 16558761 C T rs774923410 CPLANE2 Nonsynonymous SNV E187K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 133250 chr1 167515425 167515425 T C rs200055835 CREG1 Nonsynonymous SNV K191R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 30 133251 chr17 65739909 65739909 A G NOL11 Synonymous SNV L516L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.836 133252 chr19 23926576 23926576 A C ZNF681 Nonsynonymous SNV C592W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 133253 chr17 66303721 66303721 G A rs61734949 ARSG Synonymous SNV G29G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 5.255 133254 chr19 24116122 24116123 TG - ZNF726 C402Wfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 133255 chr17 45993829 45993829 A C rs371106023 SP2 Nonsynonymous SNV Q131P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 133256 chr19 44777552 44777552 T C rs16978899 ZNF233 Nonsynonymous SNV S247P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 5.362 133257 chr19 2226351 2226351 C T rs368624146 DOT1L Synonymous SNV P1277P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.84 133258 chr19 2251357 2251357 C T rs911499969 AMH Nonsynonymous SNV P362S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.48 133259 chr19 44792697 44792697 C T rs35932898 ZNF235 Synonymous SNV E297E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.721 133260 chr19 44792967 44792967 T C rs61743788 ZNF235 Synonymous SNV L207L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.121 133261 chr19 45001398 45001398 G A rs10423647 ZNF180 Synonymous SNV L24L 0.005 0 0.014 1 6 0 0.003 4 0 0 1 0 1.702 133262 chr19 45015106 45015106 G A rs116775350 CEACAM20 Synonymous SNV N468N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.838 133263 chr17 7123995 7123995 G A rs768632138 ACADVL Nonsynonymous SNV V71M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 133264 chr17 7139546 7139546 G A rs756720906 PHF23 Nonsynonymous SNV P167S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 133265 chr19 30165232 30165232 G A rs57443990 PLEKHF1 Synonymous SNV T162T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.96 133266 chr17 48539858 48539858 C A rs147483243 ACSF2 Nonsynonymous SNV A75D 0.007 0 0 1 8 0 0.003 0 0 0 0 0 24.1 133267 chr19 1828319 1828319 C T rs200585798 REXO1 Nonsynonymous SNV G157S 0.001 0.005 0.003 5 1 2 0.013 1 0 0 0 0 0.172 133268 chr19 44303099 44303099 - CCAG rs762862383 LYPD5 Frameshift insertion T36Lfs*29 0.001 0.003 0 0 1 1 0 0 0 0 0 0 133269 chr19 45412040 45412040 C T rs769455 APOE Nonsynonymous SNV R163C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 34 133270 chr19 45648503 45648503 A G rs10419874 PPP1R37 Synonymous SNV E427E 0.003 0.003 0.014 6 4 1 0.015 4 0 0 0 0 0.208 133271 chr19 45656069 45656069 G T rs12460007 NKPD1 Nonsynonymous SNV H542Q 0.003 0.003 0.003 6 3 1 0.015 1 0 0 0 0 7.927 133272 chr17 72832366 72832366 G A rs146892063 TMEM104 Nonsynonymous SNV R344H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.9 133273 chr19 45667428 45667428 T C rs11552653 TRAPPC6A Nonsynonymous SNV T108A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.33 133274 chr17 72860109 72860109 C T rs34232683 FDXR Synonymous SNV G321G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.4 133275 chr17 5086665 5086665 T C rs745904514 ZNF594 Nonsynonymous SNV K296R 0.003 0 0 0 3 0 0 0 0 0 0 0 23 133276 chr17 72923866 72923866 G A rs77540642 OTOP2 Nonsynonymous SNV A206T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 133277 chr17 72926879 72926879 T C rs16967162 OTOP2 Synonymous SNV S383S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.043 133278 chr1 180904880 180904880 T C rs772527816 KIAA1614 Nonsynonymous SNV L612P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 133279 chr19 45867290 45867290 C T ERCC2 Synonymous SNV T277T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.11 133280 chr19 16515399 16515399 C A EPS15L1 Nonsynonymous SNV M476I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.75 133281 chr19 36105982 36105982 C T rs751818958 HAUS5 Synonymous SNV R86R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 133282 chr19 2046676 2046676 G A rs202212307 MKNK2 Synonymous SNV F22F 0 0 0 2 0 0 0.005 0 0 0 0 0 14.31 133283 chr19 46191008 46191008 G C rs77837925 SNRPD2 Synonymous SNV A62A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.046 133284 chr17 73132255 73132255 G A rs144044643 JPT1 Nonsynonymous SNV P130S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 133285 chr17 5392227 5392227 C T MIS12 Synonymous SNV F15F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.077 133286 chr19 21117820 21117820 A G ZNF85 Nonsynonymous SNV K2E 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.724 133287 chr19 36362619 36362619 A T rs145389825 APLP1 Nonsynonymous SNV T215S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.1 133288 chr17 55918392 55918392 C T rs761915008 MRPS23 Synonymous SNV E105E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.82 133289 chr19 46526004 46526004 G A rs28722714 PGLYRP1 Synonymous SNV D92D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.83 133290 chr19 46543671 46543671 A G rs10412490 IGFL4 Nonsynonymous SNV L25P 0.004 0 0.007 0 5 0 0 2 0 0 0 0 1.457 133291 chr17 73738809 73738809 C T rs145976111 ITGB4 Nonsynonymous SNV R977C 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign/Likely benign 35 133292 chr19 17346609 17346609 G A rs773069939 NR2F6 Synonymous SNV T213T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 133293 chr17 73892771 73892822 GGGCCGGGATCCCGGGCGGGCCCGGCGCGCACCACCTCCAGCACGCCGCTGA - TRIM65 L66Pfs*59 0.003 0 0 1 3 0 0.003 0 0 0 0 0 133294 chr17 73982309 73982309 C G rs143012498 TEN1 Synonymous SNV P12P 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 15.39 133295 chr17 58127005 58127005 C T rs372235589 HEATR6 Nonsynonymous SNV R828H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.8 133296 chr1 186863320 186863320 G A rs145818677 PLA2G4A Nonsynonymous SNV E119K 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 20.3 133297 chr19 2853589 2853589 A T ZNF555 Nonsynonymous SNV K508I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.1 133298 chr17 6021493 6021493 A G rs987306689 WSCD1 Nonsynonymous SNV N454D 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 133299 chr19 17611528 17611528 G A rs141631799 SLC27A1 Synonymous SNV V493V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.95 133300 chr1 168250532 168250532 G A TBX19 0.005 0 0 0 6 0 0 0 0 0 0 0 26 133301 chr19 37129658 37129658 G A rs778700200 ZNF461 Nonsynonymous SNV A507V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 18.13 133302 chr1 19550002 19550002 G A rs200674851 EMC1 Nonsynonymous SNV T733I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 133303 chr1 169586330 169586330 C T rs6129 SELP Synonymous SNV P139P 0.008 0.003 0.007 3 9 1 0.008 2 0 0 0 0 15.04 133304 chr19 45648973 45648973 C T rs573051714 PPP1R37 Synonymous SNV T553T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.75 133305 chr1 169811681 169811681 G T C1orf112 0.004 0 0 0 5 0 0 0 0 0 0 0 25.5 133306 chr19 45719426 45719426 G A rs34958174 EXOC3L2 Synonymous SNV A282A 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 1 9.374 133307 chr19 46890656 46890656 G A rs755178312 PPP5C Nonsynonymous SNV V339I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 133308 chr19 19407997 19407997 G A rs150841061 SUGP1 Synonymous SNV P348P 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 4.716 133309 chr19 19646430 19646430 C T rs201217557 YJEFN3 Synonymous SNV R162R 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 15.71 133310 chr19 19729322 19729322 G C PBX4 Synonymous SNV A39A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.33 133311 chr19 47570060 47570060 G A rs375922525 ZC3H4 Synonymous SNV N1155N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.767 133312 chr19 47575279 47575279 G C rs76187449 ZC3H4 Synonymous SNV P634P 0.008 0.01 0.003 4 9 4 0.01 1 0 0 0 0 Likely benign 0.021 133313 chr1 201176611 201176611 G A IGFN1 Nonsynonymous SNV G864R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 133314 chr17 77758653 77758653 C G rs141957173 CBX2 Nonsynonymous SNV P471A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 7.225 133315 chr17 77769028 77769028 C T rs200482020 CBX8 Synonymous SNV P192P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 133316 chr1 17725216 17725216 C T rs376027901 PADI6 Nonsynonymous SNV T575M 0.006 0 0 0 7 0 0 0 0 0 0 0 13.6 133317 chr17 67136837 67136837 A G rs561385580 ABCA6 Nonsynonymous SNV M3T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 133318 chr19 36219713 36219713 A T KMT2B Nonsynonymous SNV D1537V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 133319 chr19 50156058 50156058 C T rs149228426 SCAF1 Synonymous SNV S804S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.63 133320 chr19 501737 501737 - AGGAG rs760633258 MADCAM1 Frameshift insertion P246Qfs*62 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 133321 chr19 501738 501738 - CTCCCGACACCACCTCCCA rs770954228 MADCAM1 Frameshift insertion E247Sfs*54 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 133322 chr19 39663640 39663640 G A rs1043867370 PAK4 Nonsynonymous SNV R96H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 133323 chr19 48637245 48637245 C G rs3730982 LIG1 Synonymous SNV L466L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.9 133324 chr17 7080364 7080364 C T ASGR1 Synonymous SNV L34L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.17 133325 chr19 40030592 40030592 C T rs77663137 EID2 Nonsynonymous SNV G43E 0.009 0.013 0.003 1 10 5 0.003 1 0 0 0 0 8.49 133326 chr7 156752722 156752722 G C rs145439145 NOM1 Nonsynonymous SNV E497Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.6 133327 chr19 40900212 40900212 G A rs759882475 PRX Synonymous SNV S1349S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.606 133328 chr19 51844550 51844550 T C VSIG10L Nonsynonymous SNV H251R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 133329 chr1 186136074 186136074 G T HMCN1 Nonsynonymous SNV D5192Y 0.003 0 0 0 4 0 0 0 0 0 0 0 33 133330 chr1 205887994 205887994 C T rs3811428 SLC26A9 Nonsynonymous SNV V744M 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 24.4 133331 chr1 206230908 206230908 G A rs368910545 AVPR1B Synonymous SNV P347P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.922 133332 chr19 49699759 49699770 GCTGCGGGGGCC - rs113100797 TRPM4 C409_R412del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 133333 chr19 49705249 49705249 G A rs1175810 TRPM4 Synonymous SNV S640S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.048 133334 chr1 207222992 207222992 A G rs749716086 YOD1 Synonymous SNV S140S 0 0 0.007 0 0 0 0 2 0 0 0 0 2.007 133335 chr19 49897809 49897809 G A rs79229997 CCDC155 Synonymous SNV T40T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.96 133336 chr19 49949896 49949896 C G rs61746782 PIH1D1 Nonsynonymous SNV G248A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.513 133337 chr1 20966479 20966479 C T rs370906995 PINK1 Nonsynonymous SNV T257I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.784 133338 chr1 20971008 20971008 C G rs372280083 PINK1 Nonsynonymous SNV L268V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 133339 chr19 39055853 39055853 G C rs193922854 RYR1 Synonymous SNV A4288A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.822 133340 chr19 49965945 49965945 C - rs757488215 ALDH16A1 R294Gfs*157 0.002 0.003 0 0 2 1 0 0 0 0 0 0 133341 chr19 49965971 49965971 G C rs754363579 ALDH16A1 Nonsynonymous SNV V302L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.49 133342 chr19 49994115 49994115 C T rs149507614 RPL13A Synonymous SNV Y51Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.54 133343 chr17 8018282 8018282 C T rs180750118 ALOXE3 Synonymous SNV T176T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 133344 chr19 50029298 50029298 C T rs34072018 FCGRT Synonymous SNV T340T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.26 133345 chr19 50086540 50086540 C T rs35016366 PRRG2 Nonsynonymous SNV P22S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.97 133346 chr17 80376331 80376331 C T OGFOD3 Nonsynonymous SNV A11T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 133347 chr19 50266409 50266409 G A rs73590446 TSKS Synonymous SNV V32V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.41 133348 chr8 10411512 10411512 T G rs772394091 PRSS55 Synonymous SNV P267P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.839 133349 chr17 73830513 73830513 C T rs377549461 UNC13D Nonsynonymous SNV V731M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 25.1 133350 chr1 200549474 200549474 T G KIF14 Nonsynonymous SNV I634L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 133351 chr19 50951579 50951579 G A rs190538269 MYBPC2 Synonymous SNV T468T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.32 133352 chr19 40710438 40710438 C T rs574172025 MAP3K10 Nonsynonymous SNV R304C 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 34 133353 chr19 45117035 45117035 T C rs562540150 IGSF23 Nonsynonymous SNV M27T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.002 133354 chr19 4517633 4517633 C T rs182388730 PLIN4 Synonymous SNV A43A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.13 133355 chr8 13425428 13425428 C A rs180788033 C8orf48 Nonsynonymous SNV P310T 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 0.305 133356 chr19 45899070 45899070 C A rs577984959 PPP1R13L Synonymous SNV A326A 0.004 0 0 0 5 0 0 0 0 0 0 0 11.76 133357 chr19 45899139 45899139 G A rs765627229 PPP1R13L Synonymous SNV N303N 0.004 0 0 0 5 0 0 0 0 0 0 0 11.32 133358 chr1 201182054 201182054 C A IGFN1 Nonsynonymous SNV P2678Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 133359 chr19 4491806 4491806 G T rs753857401 HDGFL2 Nonsynonymous SNV G218C 0.005 0 0 0 6 0 0 0 0 0 0 0 19.89 133360 chr18 12982530 12982530 T G rs201206357 SEH1L Nonsynonymous SNV S259A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.29 133361 chr19 463855 463855 G A rs116116196 ODF3L2 Nonsynonymous SNV R287C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.022 133362 chr19 549667 549667 G A rs59539774 GZMM Nonsynonymous SNV R178Q 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 1 133363 chr1 204412588 204412588 T C rs41302549 PIK3C2B Nonsynonymous SNV K1002R 0.005 0 0.007 7 6 0 0.018 2 0 0 0 0 12.28 133364 chr19 39516137 39516137 G A rs369513367 FBXO27 Nonsynonymous SNV R256W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 133365 chr17 78319470 78319470 C G rs150357089 RNF213 Synonymous SNV T2445T 0.001 0 0.014 3 1 0 0.008 4 0 0 0 0 Benign 1.642 133366 chr19 49657889 49657889 - TCCTCCTCC rs147238387 HRC E204_A205insEEE 0.001 0.003 0 0 1 1 0 0 0 0 0 0 133367 chr19 49937932 49937932 G T rs763717264 SLC17A7 Synonymous SNV P188P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.88 133368 chr1 212180775 212180775 T C INTS7 Synonymous SNV V142V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.485 133369 chr1 212216341 212216341 C T rs766301691 DTL Nonsynonymous SNV S20F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 133370 chr19 48876829 48876829 T C rs34282921 SYNGR4 Nonsynonymous SNV M50T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.002 133371 chr19 50361907 50361907 C T rs34436456 PTOV1 Synonymous SNV G346G 0.003 0.01 0.01 0 4 4 0 3 0 0 1 0 9.8 133372 chr19 50393043 50393043 C T rs142424118 IL4I1 Nonsynonymous SNV V530M 0.003 0.01 0.01 0 4 4 0 3 0 0 1 0 11 133373 chr19 46393968 46393968 G A MYPOP Synonymous SNV A371A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 1.136 133374 chr17 80606200 80606200 C T rs148665559 WDR45B Nonsynonymous SNV C6Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 22.2 133375 chr1 237730059 237730059 C T rs72549415 RYR2 Nonsynonymous SNV A1136V 0.001 0 0.01 3 1 0 0.008 3 0 0 0 0 Benign/Likely benign 20.6 133376 chr19 51161354 51161354 G C C19orf81 Nonsynonymous SNV V124L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 133377 chr17 80861337 80861337 A G TBCD Nonsynonymous SNV E596G 0.002 0 0 0 2 0 0 0 0 0 0 0 18.05 133378 chr8 67547036 67547036 G A rs149689088 VCPIP1 Synonymous SNV H1123H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.252 133379 chr1 22141274 22141274 C A rs115649468 LDLRAD2 Nonsynonymous SNV P157T 0.005 0 0 0 6 0 0 0 0 0 0 0 25.7 133380 chr8 72127637 72127637 T C EYA1 Nonsynonymous SNV S528G 0.003 0 0 4 3 0 0.01 0 0 0 0 0 24.3 133381 chr19 578105 578105 C T rs187005996 BSG Synonymous SNV V133V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.657 133382 chr19 49852014 49852014 C T rs147399882 TEAD2 Synonymous SNV R230R 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 8.84 133383 chr19 51563322 51563322 C T rs143558540 KLK13 Nonsynonymous SNV A90T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 133384 chr1 22206977 22206977 C T rs143669458 HSPG2 Nonsynonymous SNV V693M 0.005 0 0.007 4 6 0 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 133385 chr8 74893757 74893757 C G rs35564486 TMEM70 Nonsynonymous SNV N228K 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign/Likely benign 8.229 133386 chr1 245850261 245850261 G A rs375160223 KIF26B Nonsynonymous SNV A1326T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.91 133387 chr19 5594052 5594066 CGCTCCCGCTCCATG - rs748161277 SAFB2 M682_R686del 0.001 0 0 0 1 0 0 0 0 0 0 0 133388 chr19 50512626 50512626 C T rs143186119 VRK3 Synonymous SNV L52L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.999 133389 chr18 70209177 70209177 C T rs17853471 CBLN2 Synonymous SNV S73S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.7 133390 chr8 94747755 94747755 A G rs199743134 RBM12B Nonsynonymous SNV I295T 0 0 0 5 0 0 0.013 0 0 0 0 0 4.139 133391 chr18 13049394 13049394 A G rs1056687942 CEP192 Synonymous SNV T868T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 133392 chr18 71816195 71816195 C T rs148630515 TIMM21 Nonsynonymous SNV T51M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.48 133393 chr18 14124412 14124412 G C rs534490553 ZNF519 Nonsynonymous SNV P23A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.013 133394 chr18 72999771 72999771 T C rs776534388 TSHZ1 Synonymous SNV Y803Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 133395 chr19 603838 603838 G A rs199606495 HCN2 Synonymous SNV E309E 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 8.37 133396 chr18 74980729 74980729 T C GALR1 Synonymous SNV S307S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.637 133397 chr1 226784511 226784511 G A rs776251071 STUM Nonsynonymous SNV V71I 0.003 0 0 0 4 0 0 0 0 0 0 0 11.05 133398 chr19 4511656 4511656 C T rs538065591 PLIN4 Synonymous SNV G772G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.815 133399 chr19 629720 629720 G A rs143562847 POLRMT Synonymous SNV H214H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.06 133400 chr1 227071449 227071449 G A rs58973334 PSEN2 Nonsynonymous SNV R62H 0.016 0.005 0.014 8 19 2 0.021 4 0 0 0 0 Benign/Likely benign 16.22 133401 chr19 6411866 6411866 G A rs951669962 LOC390877 Synonymous SNV T101T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.007 133402 chr18 29410791 29410791 G A rs368478352 TRAPPC8 Nonsynonymous SNV S1412L 0.003 0 0 0 4 0 0 0 0 0 0 0 23 133403 chr1 228462084 228462084 C T rs202200633 OBSCN Synonymous SNV D1874D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.67 133404 chr1 228464255 228464255 T C rs62621832 OBSCN Nonsynonymous SNV W2109R 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Benign 24.7 133405 chr1 25573276 25573276 C T rs766310013 RSRP1 Nonsynonymous SNV S60N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.466 133406 chr1 26392785 26392785 G A rs34009998 TRIM63 Synonymous SNV I102I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 133407 chr19 54313944 54313944 A C rs142063194 NLRP12 Synonymous SNV L323L 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Benign/Likely benign 0.002 133408 chr19 46890480 46890480 C T rs11550354 PPP5C Synonymous SNV N323N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.65 133409 chr1 26650800 26650800 C T rs201521121 CRYBG2 Nonsynonymous SNV R1527H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 133410 chr1 22903181 22903181 C T rs56193119 EPHA8 Synonymous SNV L211L 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 9.978 133411 chr19 7992159 7992159 C T rs138385134 TIMM44 Synonymous SNV A424A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Likely benign 17.91 133412 chr19 10369389 10369389 T C rs201855315 MRPL4 Nonsynonymous SNV V256A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.423 133413 chr1 28835496 28835496 A C rs4491036 SNHG3 0 0 0.003 0 0 0 0 1 0 0 0 0 3.923 133414 chr18 44219746 44219746 G A rs977671032 LOXHD1 Nonsynonymous SNV T115M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 133415 chr19 5867332 5867332 C T rs746693814 FUT5 Synonymous SNV P135P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.39 133416 chr1 231752528 231752528 G A rs536789198 TSNAX-DISC1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.015 133417 chr19 58879832 58879832 G A ZNF837 Stop gain Q290X 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 35 133418 chr18 47799970 47799970 C T rs116701586 MBD1 Synonymous SNV P391P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.37 133419 chr8 133848822 133848822 G A rs199826435 PHF20L1 Synonymous SNV T623T 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 15.32 133420 chr19 10625033 10625033 C T rs199585523 S1PR5 Nonsynonymous SNV V219I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 133421 chr1 235611703 235611703 G A rs137865306 TBCE Nonsynonymous SNV R367H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.2 133422 chr18 51858136 51858136 C T rs374944431 STARD6 Nonsynonymous SNV E62K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 133423 chr19 871048 871048 G A rs8100009 MED16 Synonymous SNV D768D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.224 133424 chr1 3383881 3383881 A G rs371036704 ARHGEF16 Nonsynonymous SNV T262A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 25.9 133425 chr1 3394441 3394441 C T rs17854723 ARHGEF16 Synonymous SNV S492S 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 7.09 133426 chr19 10736313 10736313 G T rs374362783 SLC44A2 Nonsynonymous SNV G2W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 133427 chr19 10741983 10741983 - ACGT SLC44A2 Frameshift insertion L122Vfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 133428 chr1 36055554 36055554 G A rs757593324 TFAP2E Nonsynonymous SNV R270Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 133429 chr19 52619995 52619995 G A ZNF616 Nonsynonymous SNV T141I 0.003 0.008 0 2 4 3 0.005 0 0 1 0 0 0.105 133430 chr1 36643652 36643652 G T rs763817876 MAP7D1 Nonsynonymous SNV A483S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 133431 chr19 7976200 7976200 C T rs762829838 MAP2K7 Synonymous SNV S307S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 133432 chr19 14067324 14067324 C A DCAF15 Synonymous SNV V258V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 133433 chr1 40766944 40766944 C T rs765050254 COL9A2 Synonymous SNV L660L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.06 133434 chr19 5041262 5041262 C T rs140063768 KDM4B Synonymous SNV D144D 0.004 0 0 0 5 0 0 0 0 0 0 0 5.474 133435 chr1 24413180 24413180 G A rs765243510 MYOM3 Synonymous SNV S584S 0.003 0 0 0 4 0 0 0 0 0 0 0 7.757 133436 chr18 71797807 71797807 G A rs185669152 FBXO15 Nonsynonymous SNV S140F 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 22.2 133437 chr19 56538438 56538438 G A rs200653793 NLRP5 Nonsynonymous SNV R280H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.003 133438 chr19 56565044 56565044 C G rs367661215 NLRP5 Nonsynonymous SNV L1057V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 133439 chr1 55072915 55072915 G A rs35914008 ACOT11 Synonymous SNV S493S 0.001 0.003 0.027 2 1 1 0.005 8 0 0 0 0 12.96 133440 chr1 10068312 10068312 G A rs145127190 RBP7 Nonsynonymous SNV E112K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 133441 chr8 145738841 145738841 C T rs377026680 RECQL4 Nonsynonymous SNV E742K 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.1 133442 chr1 55075341 55075341 G A rs41297137 FAM151A Nonsynonymous SNV S453L 0.002 0.003 0.024 2 2 1 0.005 7 0 0 0 0 4.205 133443 chr1 55085562 55085562 C G rs114883650 FAM151A Nonsynonymous SNV K79N 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 23.1 133444 chr1 55085608 55085608 C T rs115445569 FAM151A Nonsynonymous SNV R64Q 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 13.85 133445 chr8 146029084 146029084 T G rs144625152 ZNF517 Nonsynonymous SNV L31R 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 133446 chr1 248790169 248790169 - TT rs767824710 OR2T11 Frameshift insertion I88Rfs*16 0.01 0 0 8 12 0 0.021 0 1 0 0 0 133447 chr19 1048951 1048951 G C rs775847234 ABCA7 Nonsynonymous SNV G776A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 133448 chr19 53740555 53740555 C G ZNF677 Nonsynonymous SNV W475C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 133449 chr19 18649126 18649126 C A rs372088507 FKBP8 Synonymous SNV R223R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.608 133450 chr1 62253583 62253583 C A rs142273680 PATJ Nonsynonymous SNV P336H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 27.8 133451 chr19 54545603 54545603 C T rs202036784 VSTM1 Nonsynonymous SNV A19T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 133452 chr9 12821754 12821754 G T rs140682520 LURAP1L Nonsynonymous SNV G228C 0.003 0 0.007 4 3 0 0.01 2 0 0 0 0 26 133453 chr1 63788890 63788890 G A rs199958231 FOXD3 Nonsynonymous SNV R54H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.8 133454 chr1 100750844 100750844 A G rs774049787 RTCA Nonsynonymous SNV H287R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.2 133455 chr19 58946103 58946103 G A rs147782363 ZNF132 Synonymous SNV F236F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.718 133456 chr19 2408471 2408471 G A rs541228281 TMPRSS9 Synonymous SNV A286A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.911 133457 chr19 2422191 2422191 G A rs34615361 TMPRSS9 Nonsynonymous SNV G798R 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 Benign 5.179 133458 chr1 6947777 6947777 G C rs926200557 CAMTA1 Nonsynonymous SNV E100Q 0 0 0.01 0 0 0 0 3 0 0 0 0 8.639 133459 chr1 70385352 70385352 C T rs953959909 PIN1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.298 133460 chr1 112525001 112525001 G A rs756600533 KCND3 Synonymous SNV D116D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 2.338 133461 chr1 109745559 109745559 C T rs750634180 KIAA1324 Nonsynonymous SNV L898F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.35 133462 chr9 26887343 26887343 T C rs770271140 CAAP1 Nonsynonymous SNV K13E 0 0 0 3 0 0 0.008 0 0 0 0 0 24.4 133463 chr1 74954900 74954900 A G rs144008222 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV M717V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.017 133464 chr1 113264857 113264860 TGAG - TAFA3 S2Rfs*25 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 133465 chr19 6456497 6456497 G A rs79304508 SLC25A23 Synonymous SNV R139R 0.003 0.003 0 0 3 1 0 0 1 0 0 0 12.01 133466 chr19 6468061 6468061 C T rs34222984 DENND1C Synonymous SNV L576L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.503 133467 chr1 32745776 32745776 C T rs1801124 LCK Nonsynonymous SNV T380M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 133468 chr19 6583485 6583485 A C rs111613514 CD70 Synonymous SNV L151L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.129 133469 chr19 6732495 6732495 G A rs147082047 GPR108 Synonymous SNV I333I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.32 133470 chr9 33472307 33472307 A G rs116606598 NOL6 Nonsynonymous SNV V53A 0 0 0.007 3 0 0 0.008 2 0 0 0 0 13.9 133471 chr19 6754168 6754168 G C rs146711285 SH2D3A Nonsynonymous SNV R427G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.8 133472 chr1 7858693 7858693 - T PER3 Frameshift insertion C252Lfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 133473 chr1 115273144 115273144 C T rs146054772 CSDE1 Synonymous SNV E361E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.65 133474 chr19 6887624 6887624 G T rs34176643 ADGRE1 Nonsynonymous SNV R2L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 10.85 133475 chr19 6937658 6937658 C T rs111579004 ADGRE1 Nonsynonymous SNV T744M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 17.54 133476 chr19 7132293 7132293 A G rs2229433 INSR Synonymous SNV A894A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.57 133477 chr19 7142999 7142999 C T rs16994210 INSR Synonymous SNV T778T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.731 133478 chr19 7267746 7267746 A G rs61736580 INSR Synonymous SNV L88L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.843 133479 chr19 33666378 33666378 G C rs142286952 WDR88 Nonsynonymous SNV C440S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 133480 chr19 7448021 7448021 A G rs77026020 ARHGEF18 Nonsynonymous SNV Q300R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 133481 chr9 35706001 35706001 G A rs149087654 TLN1 Synonymous SNV V1823V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 12.68 133482 chr1 111860702 111860702 G A rs147103194 CHIA Nonsynonymous SNV D73N 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 22.6 133483 chr19 7565735 7565735 C G rs115016050 TEX45 Nonsynonymous SNV C9W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 133484 chr19 7677321 7677321 G A rs59573618 CAMSAP3 Nonsynonymous SNV E648K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.54 133485 chr19 7677322 7677322 A G rs59128161 CAMSAP3 Nonsynonymous SNV E648G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.73 133486 chr19 56539701 56539701 G A rs760369062 NLRP5 Nonsynonymous SNV R701H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.162 133487 chr19 7810428 7810428 G C rs11465380 CD209 Nonsynonymous SNV L198V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.278 133488 chr19 7964608 7964608 G A rs112804258 LRRC8E Nonsynonymous SNV E272K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.5 133489 chr1 40367533 40367533 C A rs773112403 MYCL Nonsynonymous SNV A10S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 19.4 133490 chr1 120166444 120166444 G A rs754722277 ZNF697 Synonymous SNV L174L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.411 133491 chr1 40367535 40367535 G A rs762974490 MYCL Nonsynonymous SNV A9V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.8 133492 chr19 7975684 7975684 - GGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGA MAP2K7 A225_I226insVSDQAGLALGRMTEA 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 133493 chr19 803611 803611 C T PTBP1 Synonymous SNV I30I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 133494 chr1 114391219 114391219 T C rs145370775 PTPN22 Synonymous SNV V262V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.991 133495 chr19 812939 812939 C T rs371075527 PLPPR3 Synonymous SNV S624S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.73 133496 chr19 8151169 8151169 G A rs8102892 FBN3 Synonymous SNV N2265N 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 7.168 133497 chr19 8188436 8188436 C T rs61729602 FBN3 Synonymous SNV T998T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.721 133498 chr1 911878 911878 C T rs571957811 PERM1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 133499 chr1 92649841 92649841 C G KIAA1107 Nonsynonymous SNV S1265W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 133500 chr19 17346854 17346854 G C rs202200760 NR2F6 Nonsynonymous SNV P132A 0.008 0.008 0 5 9 3 0.013 0 1 0 0 1 24.4 133501 chr1 97981352 97981352 G A rs754125729 DPYD Nonsynonymous SNV T557I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 133502 chr1 120166498 120166498 G T rs774442778 ZNF697 Nonsynonymous SNV D156E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.065 133503 chr1 12065797 12065797 G C rs945014959 MFN2 Nonsynonymous SNV V509L 0.004 0 0 0 5 0 0 0 0 0 0 0 0.987 133504 chr1 98511733 98511733 - CCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTA MIR137HG 0 0 0.014 0 0 0 0 4 0 0 0 0 133505 chr19 58511235 58511235 C T rs139131343 ZNF606 Nonsynonymous SNV V40M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.002 133506 chr9 90501500 90501500 G - SPATA31E1 G700Efs*9 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 133507 chr1 150818771 150818773 ATC - rs746068568 ARNT D65del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 133508 chr1 151681706 151681706 G A rs145222358 CELF3 Synonymous SNV G85G 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.775 133509 chr19 39361759 39361759 G A rs551357680 RINL Nonsynonymous SNV P187L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.386 133510 chr9 103008903 103008903 G A rs141109039 INVS Synonymous SNV T304T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.39 133511 chr1 10713807 10713807 G A rs150385873 CASZ1 Synonymous SNV N769N 0.011 0.01 0.007 4 13 4 0.01 2 0 0 0 0 Benign 11.89 133512 chr1 151006406 151006406 C G rs72706548 PRUNE1 Nonsynonymous SNV P152R 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 28.6 133513 chr19 40424307 40424307 G A rs200120775 FCGBP Synonymous SNV D632D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.217 133514 chr1 151804213 151804213 G A rs17582155 RORC Stop gain R10X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 36 133515 chr19 746556 746556 C T PALM Synonymous SNV F258F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.47 133516 chr19 407798 407798 G C rs549689209 C2CD4C Synonymous SNV A188A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 133517 chr9 111853412 111853412 C T rs2271877 TMEM245 Nonsynonymous SNV A314T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.912 133518 chr19 41076555 41076555 C G rs370564309 SPTBN4 Nonsynonymous SNV P2414A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 133519 chr1 56990174 56990174 G A rs763340277 PLPP3 Nonsynonymous SNV T117M 0.003 0 0 0 4 0 0 0 0 0 0 0 20.8 133520 chr19 8138139 8138139 G A rs73923958 FBN3 Nonsynonymous SNV A2582V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25.6 133521 chr1 57406638 57406638 G A rs41286844 C8B Stop gain R428X 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Pathogenic 41 133522 chr20 23860117 23860117 C T rs376468322 CST5 Nonsynonymous SNV S66N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.66 133523 chr1 155247567 155247567 T A rs541101943 HCN3 Synonymous SNV L62L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11.31 133524 chr1 155294666 155294666 C T rs201395635 RUSC1 Nonsynonymous SNV P53L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26 133525 chr19 2230314 2230314 C T rs185888752 PLEKHJ1 Nonsynonymous SNV E228K 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 3.647 133526 chr20 25060096 25060096 C T rs74315433 VSX1 Nonsynonymous SNV G160D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.7 133527 chr1 110754472 110754472 C T rs767676723 KCNC4 Synonymous SNV C117C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 133528 chr19 8385770 8385770 C T NDUFA7 Synonymous SNV L24L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.43 133529 chr19 8400042 8400042 C T rs541611495 KANK3 Synonymous SNV R223R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.25 133530 chr19 42857185 42857185 G A rs200838638 MEGF8 Synonymous SNV P1085P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.452 133531 chr19 9453103 9453103 G A rs75995097 ZNF559 Nonsynonymous SNV E390K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.754 133532 chr19 44103327 44103327 G A rs371162782 ZNF576 Nonsynonymous SNV A144T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 133533 chr19 3179116 3179116 G A rs770488747 S1PR4 Nonsynonymous SNV R109H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.26 133534 chr1 114442728 114442728 C T rs146053295 AP4B1 Synonymous SNV L136L 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Benign 14.74 133535 chr19 32845548 32845548 C T rs770898247 ZNF507 Synonymous SNV D604D 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.553 133536 chr20 33586676 33586676 A C MYH7B Nonsynonymous SNV E1425A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 133537 chr1 11596405 11596405 C T rs750899058 DISP3 Nonsynonymous SNV R1281C 0 0.005 0 0 0 2 0 0 0 0 0 0 34 133538 chr19 33696336 33696336 C T rs200810037 LRP3 Synonymous SNV S220S 0.005 0 0.007 0 6 0 0 2 0 0 0 0 12.24 133539 chr1 156222799 156222799 A G SMG5 Nonsynonymous SNV V805A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 133540 chr20 36767858 36767858 C T rs142184177 TGM2 Nonsynonymous SNV R352Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.22 133541 chr20 43090488 43090488 T A rs191021973 LINC01620 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.28 133542 chr19 45317905 45317905 G C BCAM Nonsynonymous SNV L322F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 133543 chr1 111147337 111147337 T C rs753829876 KCNA2 Nonsynonymous SNV Y23C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.9 133544 chr19 45322679 45322679 G T rs539905238 BCAM Nonsynonymous SNV R517L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 133545 chr1 87025932 87025932 A G rs2231583 CLCA4 Synonymous SNV R113R 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 Benign 5.308 133546 chr19 9269515 9269515 A G ZNF317 Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.261 133547 chr1 149916887 149916887 T C OTUD7B Synonymous SNV S467S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.958 133548 chr19 38126264 38126264 C T rs752266348 ZFP30 Nonsynonymous SNV R393H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.2 133549 chr1 16534036 16534036 C T ARHGEF19 Synonymous SNV Q285Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 17.17 133550 chr1 100623889 100623889 G C LRRC39 Nonsynonymous SNV S137R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.3 133551 chr1 908389 908389 C T rs75748725 PLEKHN1 Nonsynonymous SNV P396L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.788 133552 chr1 151282687 151282687 G A rs587603119 PI4KB Synonymous SNV S318S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.37 133553 chr1 161789470 161789470 C T rs775430212 ATF6 Synonymous SNV S319S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 133554 chr19 39787093 39787093 C T rs746150882 IFNL1 Nonsynonymous SNV T11I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.672 133555 chr1 169528460 169528460 T G F5 Nonsynonymous SNV S221R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29.3 133556 chr20 57599356 57599356 C T TUBB1 Stop gain Q292X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 133557 chr20 57599401 57599401 C T rs62639974 TUBB1 Nonsynonymous SNV R307C 0.009 0 0.007 0 10 0 0 2 0 0 0 0 Benign 34 133558 chr20 57599787 57599787 T C rs34074666 TUBB1 Synonymous SNV D435D 0.009 0 0.007 0 10 0 0 2 0 0 0 0 Benign 0.016 133559 chr1 11826459 11826459 A T rs150826531 C1orf167 Nonsynonymous SNV S206C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.506 133560 chr1 16464805 16464805 C T rs139176878 EPHA2 Nonsynonymous SNV R261Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 34 133561 chr1 109805030 109805030 C A rs145591944 CELSR2 Nonsynonymous SNV S1503Y 0.003 0 0 0 4 0 0 0 0 0 0 0 32 133562 chr20 60640724 60640724 G T TAF4 Nonsynonymous SNV P48H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 133563 chr20 10627717 10627717 G A rs142808131 JAG1 Synonymous SNV N585N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.38 133564 chr1 155018910 155018910 C A rs759161661 DCST1 Stop gain Y456X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 133565 chr20 60908241 60908241 C T rs374993691 LAMA5 Nonsynonymous SNV A1063T 0 0 0.007 0 0 0 0 2 0 0 0 0 27.5 133566 chr1 111860679 111860679 G T rs758643028 CHIA Nonsynonymous SNV S65I 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 133567 chr20 14306324 14306324 A G rs554650400 FLRT3 Nonsynonymous SNV V610A 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 15.59 133568 chr1 113232621 113232621 T - MOV10 L246Rfs*5 0.003 0 0 0 4 0 0 0 0 0 0 0 133569 chr1 1269502 1269502 G A rs577836548 TAS1R3 Synonymous SNV T739T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.134 133570 chr1 1291085 1291085 C T rs181929025 MXRA8 Nonsynonymous SNV A32T 0.003 0.003 0.007 5 3 1 0.013 2 0 0 0 1 3.666 133571 chr20 1600537 1600537 C T rs144045134 SIRPB1 Synonymous SNV T18T 0.011 0.005 0 4 13 2 0.01 0 0 0 0 0 2.029 133572 chr1 1326775 1326775 C T rs532309698 CCNL2 Synonymous SNV G56G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.632 133573 chr1 1374805 1374805 G C rs2275916 VWA1 Nonsynonymous SNV A326P 0.01 0.005 0.01 9 12 2 0.023 3 0 0 0 0 3.525 133574 chr1 1391192 1391192 C T rs190004171 ATAD3C Nonsynonymous SNV R154C 0.007 0 0.003 2 8 0 0.005 1 1 0 0 0 25.9 133575 chr1 1396244 1396244 G A rs150798221 ATAD3C Synonymous SNV L309L 0.012 0.01 0.01 7 14 4 0.018 3 0 0 0 0 5.804 133576 chr1 144994670 144994670 C A rs146993928 PDE4DIP Nonsynonymous SNV S21I 0.003 0.005 0.014 1 4 2 0.003 4 0 0 0 0 34 133577 chr1 158548922 158548922 G T rs36024740 OR10X1 Synonymous SNV T256T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.709 133578 chr1 150526851 150526851 C G rs145639662 ADAMTSL4 Nonsynonymous SNV P381R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.4 133579 chr20 19664832 19664832 G A rs150240114 SLC24A3 Nonsynonymous SNV R305H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.6 133580 chr1 151498128 151498128 T C rs772781328 CGN Nonsynonymous SNV V542A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 133581 chr19 52272792 52272792 A C FPR2 Nonsynonymous SNV N294T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 133582 chr21 30426422 30426422 A G rs200606379 USP16 Nonsynonymous SNV I795V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 133583 chr20 25038553 25038553 A T rs73348757 ACSS1 Nonsynonymous SNV S62R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.039 133584 chr20 25193915 25193915 G A rs34007133 ENTPD6 Nonsynonymous SNV R140Q 0.004 0 0 0 5 0 0 0 0 0 0 0 11.35 133585 chr1 1226797 1226797 C G rs141251506 SCNN1D Nonsynonymous SNV A739G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.56 133586 chr20 25195526 25195526 G A rs61740272 ENTPD6 Synonymous SNV S142S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.006 133587 chr21 34542124 34542124 C T rs188605696 LINC01548 0 0 0.01 0 0 0 0 3 0 0 0 0 3.63 133588 chr1 159902338 159902338 G A rs532766563 IGSF9 Synonymous SNV T403T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 133589 chr1 152975715 152975718 CTGT - rs766965844 SPRR3 C74Pfs*125 0.001 0 0 0 1 0 0 0 0 0 0 0 133590 chr1 152975720 152975763 CCAAGGTCCCTGAGCCAGGTTGTACCAAGGTCCCTGAGCCAGGC - SPRR3 T75Mfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 133591 chr1 153507787 153507787 C T rs143042985 S100A6 Nonsynonymous SNV G10D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 133592 chr20 30816111 30816111 A G rs6579005 POFUT1 Synonymous SNV P196P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 4.517 133593 chr10 858871 858871 G A rs765732130 LARP4B Stop gain Q773X 0.002 0 0 3 2 0 0.008 0 0 0 0 0 37 133594 chr19 463890 463890 G A rs148518065 ODF3L2 Nonsynonymous SNV T275M 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 0.005 133595 chr19 46996853 46996853 C A PNMA8B Nonsynonymous SNV A624S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 133596 chr1 151020458 151020458 C T C1orf56 Synonymous SNV T45T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.68 133597 chr20 3245093 3245093 T C rs561755293 C20orf194 Nonsynonymous SNV Y955C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 133598 chr1 19449373 19449373 G A UBR4 Nonsynonymous SNV T3257I 0.001 0 0 0 1 0 0 0 0 0 0 0 25 133599 chr19 47774437 47774437 C G rs140781923 CCDC9 Nonsynonymous SNV P395R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 2.091 133600 chr21 43702450 43702450 G A rs762373789 ABCG1 Nonsynonymous SNV G219S 0 0 0.003 0 0 0 0 1 0 0 0 0 29 133601 chr10 6146950 6146950 A G rs144792859 RBM17 Synonymous SNV E99E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.102 133602 chr10 7423819 7423819 T A rs139637909 SFMBT2 Synonymous SNV S14S 0 0 0 3 0 0 0.008 0 0 0 0 0 2.796 133603 chr10 7423829 7423829 T G rs144185734 SFMBT2 Nonsynonymous SNV Q11P 0 0 0 3 0 0 0.008 0 0 0 0 0 8.639 133604 chr20 3652554 3652554 C A rs765009386 ADAM33 Nonsynonymous SNV S559I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.2 133605 chr1 201180585 201180585 G A rs140465460 IGFN1 Nonsynonymous SNV M2188I 0.006 0 0 3 7 0 0.008 0 0 0 0 0 0.006 133606 chr21 45494940 45494940 A G rs138763705 TRAPPC10 Synonymous SNV L402L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 9.673 133607 chr21 45533688 45533688 G A rs146879961 LOC102724159, PWP2 Synonymous SNV G62G 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 3.069 133608 chr21 45544547 45544547 G C rs144635092 LOC102724159, PWP2 Nonsynonymous SNV R635P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 14.77 133609 chr19 55592601 55592601 C T rs139759863 EPS8L1 Nonsynonymous SNV A45V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 133610 chr21 45550493 45550493 A G rs34694890 LOC102724159, PWP2 Nonsynonymous SNV H867R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 2.425 133611 chr21 45550499 45550499 A C rs148288077 LOC102724159, PWP2 Nonsynonymous SNV N869T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.95 133612 chr1 17281268 17281268 C T rs201108592 CROCC Nonsynonymous SNV R1121W 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 35 133613 chr21 45789173 45789173 G T rs776353332 TRPM2 Stop gain G240X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 133614 chr21 45953753 45953753 G A rs149493344 TSPEAR Synonymous SNV L119L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.473 133615 chr21 45953755 45953755 G A rs143941725 TSPEAR Nonsynonymous SNV L119F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 133616 chr1 17326594 17326594 G A rs148391179 ATP13A2 Synonymous SNV C312C 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.14 133617 chr10 13699142 13699142 G A rs762602051 FRMD4A Nonsynonymous SNV A507V 0 0 0 2 0 0 0.005 0 0 0 0 0 16.7 133618 chr21 47572921 47572921 G A rs370444672 FTCD Synonymous SNV D89D 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 9.766 133619 chr1 160389121 160389121 G A rs766747974 VANGL2 Synonymous SNV S174S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 133620 chr19 56702239 56702239 A T rs10425951 ZSCAN5B Nonsynonymous SNV S236T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.001 133621 chr1 156761541 156761541 C A PRCC Nonsynonymous SNV P379H 0.004 0 0 0 5 0 0 0 0 0 0 0 24.3 133622 chr19 56703285 56703285 C T rs75028725 ZSCAN5B Synonymous SNV P174P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.415 133623 chr19 56703289 56703289 T C rs73617565 ZSCAN5B Nonsynonymous SNV H173R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 133624 chr1 18149704 18149704 C T rs143679369 ACTL8 Synonymous SNV I67I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.04 133625 chr20 47297828 47297828 C T rs773543314 PREX1 Synonymous SNV T460T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.19 133626 chr19 57065337 57065337 C T rs115379561 ZFP28 Nonsynonymous SNV R395C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.033 133627 chr1 20991152 20991152 G C KIF17 Synonymous SNV L1004L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.31 133628 chr1 185976299 185976299 C G rs146532107 HMCN1 Nonsynonymous SNV D1505E 0.009 0.01 0.003 3 10 4 0.008 1 0 0 0 0 Benign 22.6 133629 chr1 16641668 16641668 G C rs772477058 FBXO42 Nonsynonymous SNV I82M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 133630 chr1 16641796 16641796 C T rs374015900 FBXO42 Nonsynonymous SNV E40K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 133631 chr1 16641799 16641799 C T rs776614094 FBXO42 Nonsynonymous SNV E39K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.24 133632 chr1 169762175 169762175 A G rs370886879 METTL18 Nonsynonymous SNV M221T 0 0 0 2 0 0 0.005 0 0 0 0 0 2.999 133633 chr1 19166668 19166668 C T rs138370812 TAS1R2 Nonsynonymous SNV A649T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.642 133634 chr22 24037096 24037096 T C rs192978266 GUSBP11 0 0 0.003 0 0 0 0 1 0 0 0 0 0.25 133635 chr10 34420416 34420416 C T rs754646212 PARD3 Nonsynonymous SNV R1063Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.8 133636 chr10 43598049 43598049 C T rs55810667 RET Synonymous SNV N199N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.594 133637 chr19 59025664 59025664 G T ZBTB45 Nonsynonymous SNV H431Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 133638 chr19 59082450 59082450 G A rs140640838 MZF1 Nonsynonymous SNV R103C 0.003 0 0 0 3 0 0 0 0 0 0 0 10.53 133639 chr1 17326770 17326770 A G rs772414750 ATP13A2 Nonsynonymous SNV M288T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.957 133640 chr1 22182158 22182158 G A rs754407360 HSPG2 Synonymous SNV G1905G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.372 133641 chr1 197112736 197112736 C T rs151050191 ASPM Nonsynonymous SNV E216K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 133642 chr20 60907513 60907513 C T rs143551466 LAMA5 Nonsynonymous SNV R1156Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.4 133643 chr22 31284957 31284957 G A rs117499283 LOC107985544 0 0 0.01 0 0 0 0 3 0 0 0 0 1.046 133644 chr10 48390286 48390286 T C RBP3 Nonsynonymous SNV T198A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 133645 chr22 32011190 32011190 G A rs61742933 SFI1 Synonymous SNV T1020T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.428 133646 chr22 32647802 32647802 C T rs144495809 SLC5A4 Synonymous SNV G89G 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 15.52 133647 chr20 61444650 61444697 CCCAGGCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAG - rs780566640 OGFR G563_P578del 0.001 0 0 0 1 0 0 0 0 0 0 0 133648 chr22 33327400 33327400 C T rs200324473 SYN3 Nonsynonymous SNV V146M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.23 133649 chr1 179544913 179544913 G C rs12123397 NPHS2 Synonymous SNV A29A 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.005 133650 chr1 179599985 179599985 C T rs12126190 TDRD5 Synonymous SNV L352L 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 13.04 133651 chr19 804080 804080 G A rs140945539 PTBP1 Nonsynonymous SNV A54T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.003 133652 chr22 36690189 36690189 G A rs192365600 MYH9 Synonymous SNV N1262N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 133653 chr1 180794046 180794046 G A rs151270778 XPR1 Synonymous SNV P307P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.641 133654 chr1 167673917 167673917 A G rs140531524 RCSD1 Nonsynonymous SNV Q358R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 133655 chr1 167745358 167745358 C T rs749835317 MPZL1 Synonymous SNV S221S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 133656 chr1 182496760 182496760 A C RGSL1 Synonymous SNV R660R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 133657 chr1 202977802 202977802 G C rs866636201 TMEM183A Nonsynonymous SNV Q47H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 133658 chr1 228285374 228285374 C T rs142418933 ARF1 Synonymous SNV D114D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.278 133659 chr1 204966323 204966323 C T rs200128800 NFASC Synonymous SNV T936T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.44 133660 chr1 183205708 183205708 G C rs144908769 LAMC2 Nonsynonymous SNV R857P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 14.63 133661 chr22 39832306 39832306 - A LOC100506472 0 0 0.003 0 0 0 0 1 0 0 0 0 133662 chr1 230391057 230391057 C T rs756971127 GALNT2 Nonsynonymous SNV T330M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 133663 chr1 185259915 185259915 A G rs200005543 SWT1 Nonsynonymous SNV M895V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.015 133664 chr1 185880873 185880873 G A rs138455877 HMCN1 Synonymous SNV V287V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.02 133665 chr1 231837874 231837874 G T TSNAX-DISC1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.545 133666 chr1 17634718 17634718 A G rs141280036 PADI4 Star tloss M1? 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 133667 chr1 230895294 230895294 C T rs370370799 CAPN9 Nonsynonymous SNV T107M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 133668 chr1 177906410 177906410 T G CRYZL2P-SEC16B, SEC16B Synonymous SNV A473A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.059 133669 chr1 19501478 19501478 T C rs150579943 UBR4 Synonymous SNV S941S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.792 133670 chr1 236746426 236746426 T C rs145047352 HEATR1 Nonsynonymous SNV Y771C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.6 133671 chr1 236754203 236754203 C G rs144502500 HEATR1 Nonsynonymous SNV A492P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.39 133672 chr1 233394716 233394716 G A rs377755050 PCNX2 Nonsynonymous SNV R298W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 133673 chr1 236228254 236228254 C A rs143222129 NID1 Synonymous SNV G42G 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 18.32 133674 chr22 50471715 50471715 T G rs144347002 TTLL8 Nonsynonymous SNV D416A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 133675 chr1 24192103 24192103 C G rs143691289 FUCA1 Nonsynonymous SNV L134F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 15.56 133676 chr1 201822201 201822201 C G rs765547478 IPO9 Nonsynonymous SNV I222M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 133677 chr22 50726123 50726123 C G rs746814341 PLXNB2 Nonsynonymous SNV Q527H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 133678 chr1 203015066 203015066 A G rs369310834 PPFIA4 Nonsynonymous SNV N319S 0.003 0 0 0 4 0 0 0 0 0 0 0 18.74 133679 chr22 51158739 51158739 G A rs925909458 SHANK3 Synonymous SNV A812A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 133680 chr10 94714402 94714402 C T rs146699258 EXOC6 Synonymous SNV D411D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.75 133681 chr2 101644821 101644821 C T rs755006747 TBC1D8 Nonsynonymous SNV D751N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 133682 chr1 203317085 203317085 G A rs370270022 FMOD Nonsynonymous SNV S105F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.7 133683 chr1 19449381 19449381 A T UBR4 Nonsynonymous SNV S3254R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.59 133684 chr10 95389038 95389038 T A PDE6C Synonymous SNV P365P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.9 133685 chr19 58772854 58772854 G A rs201604142 ZNF544 Synonymous SNV G266G 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 1.371 133686 chr2 102808418 102808418 C T rs758788874 IL1RL2 Synonymous SNV N109N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.448 133687 chr1 109805587 109805587 G T rs200841982 CELSR2 Synonymous SNV V1568V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.787 133688 chr1 244715882 244715882 A G rs34510134 CATSPERE Synonymous SNV S114S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.901 133689 chr2 105472775 105472775 - CACCAC POU3F3 H277_A278insHH 0 0 0.003 0 0 0 0 1 0 0 0 0 133690 chr1 200586843 200586843 C T rs147387069 KIF14 Nonsynonymous SNV E337K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 133691 chr1 201186501 201186501 G A rs143014998 IGFN1 Nonsynonymous SNV G3228S 0.003 0.003 0.003 7 3 1 0.018 1 0 0 0 0 26.3 133692 chr1 211192295 211192295 G A rs751141740 KCNH1 Nonsynonymous SNV R288C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 133693 chr1 211652664 211652664 C T rs763352078 RD3 Nonsynonymous SNV R101Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 133694 chr21 46876044 46876044 G T rs201419516 COL18A1 Nonsynonymous SNV R200S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.287 133695 chr21 46876045 46876045 C T rs199725915 COL18A1 Nonsynonymous SNV P201S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.039 133696 chr1 2129458 2129458 G T rs41315340 FAAP20 Nonsynonymous SNV T120K 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 1.033 133697 chr19 7685181 7685181 G A XAB2 Nonsynonymous SNV S749L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.17 133698 chr1 203013529 203013529 C T rs767241944 PPFIA4 Nonsynonymous SNV A175V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 133699 chr1 1140851 1140851 C T rs201786281 TNFRSF18 Stop gain W70X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 133700 chr2 11772168 11772168 C T GREB1 Nonsynonymous SNV A1582V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 133701 chr1 228525844 228525844 A G rs750874968 OBSCN Nonsynonymous SNV K5667R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27 133702 chr2 11777868 11777868 G T GREB1 Synonymous SNV V1791V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.958 133703 chr1 248059313 248059313 G A rs147318633 OR2W3 Nonsynonymous SNV R142Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.269 133704 chr1 228596116 228596116 G T rs144009035 TRIM17 Nonsynonymous SNV T407N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.267 133705 chr2 120362294 120362294 G A rs61741340 CFAP221 Nonsynonymous SNV V280I 0.003 0.005 0.014 1 3 2 0.003 4 0 0 0 0 0.002 133706 chr22 18609213 18609213 C T rs151079612 TUBA8 Synonymous SNV R90R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 11.98 133707 chr22 19211467 19211467 T A rs181639433 CLTCL1 Nonsynonymous SNV I747L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 29.7 133708 chr2 131673073 131673073 A C ARHGEF4 Synonymous SNV S518S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.963 133709 chr22 19906454 19906454 T C rs200076623 TXNRD2 Synonymous SNV A101A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 4.365 133710 chr1 233275477 233275477 G T rs183196856 PCNX2 Nonsynonymous SNV H1214Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.1 133711 chr2 136513174 136513174 A G UBXN4 Nonsynonymous SNV N141D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 133712 chr1 211652382 211652382 T A rs143207434 RD3 Nonsynonymous SNV D195V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign/Likely benign 24.7 133713 chr10 115602192 115602192 T A rs11196530 DCLRE1A Nonsynonymous SNV I859F 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 29.4 133714 chr1 33161300 33161300 T C SYNC Synonymous SNV P133P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.953 133715 chr1 226784627 226784627 C T rs371248451 STUM Synonymous SNV V109V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.84 133716 chr1 33292008 33292008 G A rs61739743 S100PBP Nonsynonymous SNV S103N 0.007 0.013 0.01 3 8 5 0.008 3 0 0 0 0 0.06 133717 chr1 34102084 34102084 C T CSMD2 Synonymous SNV K1615K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.61 133718 chr1 2706162 2706162 G C rs557596918 TTC34 Nonsynonymous SNV R512G 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 1 3.993 133719 chr2 159518080 159518080 A G rs536825097 PKP4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.234 133720 chr1 228404169 228404169 G A rs763115286 OBSCN Nonsynonymous SNV E715K 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 17.6 133721 chr2 160050886 160050886 T C TANC1 Nonsynonymous SNV L753P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 133722 chr1 36784666 36784672 TCCCAGC - SH3D21 A146Vfs*9 0.002 0.003 0 0 2 1 0 0 0 0 0 0 133723 chr10 123843470 123843470 C A rs145676536 TACC2 Nonsynonymous SNV D485E 0.009 0.008 0.003 5 11 3 0.013 1 0 0 0 0 7.678 133724 chr2 160261562 160261562 C T rs752360920 BAZ2B Nonsynonymous SNV R878Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 133725 chr10 123845456 123845456 G A rs145035433 TACC2 Synonymous SNV P1147P 0.013 0.01 0.003 9 15 4 0.023 1 0 0 0 0 7.281 133726 chr10 123847432 123847432 C T rs763376130 TACC2 Nonsynonymous SNV P1806L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 6.55 133727 chr1 38155366 38155366 G T rs145196420 C1orf109 Nonsynonymous SNV L125I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 133728 chr1 228481989 228481989 C G rs749978398 OBSCN Nonsynonymous SNV D3756E 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 133729 chr1 2436271 2436271 G A rs143400582 PLCH2 Synonymous SNV S1290S 0.009 0.008 0.01 5 11 3 0.013 3 0 0 0 0 Benign 1.434 133730 chr1 223176650 223176650 G C rs140195081 DISP1 Synonymous SNV A637A 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Likely benign 0.046 133731 chr10 124697621 124697621 T C C10orf88 Nonsynonymous SNV K235E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.671 133732 chr1 32098910 32098910 C T rs140595911 PEF1 Nonsynonymous SNV A41T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.93 133733 chr1 228584659 228584659 C T rs149358976 TRIM11 Nonsynonymous SNV R283Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 133734 chr1 40092635 40092635 C A rs138365730 HEYL Nonsynonymous SNV W177C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 32 133735 chr2 168103339 168103339 G A XIRP2 Nonsynonymous SNV V1591M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 133736 chr1 153271685 153271685 C T rs118113194 PGLYRP3 Nonsynonymous SNV G251S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 133737 chr1 245927433 245927433 G C rs201329671 SMYD3 Nonsynonymous SNV S365R 0 0.005 0 0 0 2 0 0 0 0 0 0 22.4 133738 chr1 40149682 40149682 T C rs770213036 HPCAL4 Nonsynonymous SNV N102S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 133739 chr1 226483554 226483554 T C rs201055360 LIN9 Nonsynonymous SNV M33V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.77 133740 chr2 170151210 170151210 T C rs372097309 LRP2 Synonymous SNV T146T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 5.433 133741 chr1 226019507 226019507 C T rs148240980 EPHX1 Nonsynonymous SNV R71C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 133742 chr1 33778163 33778163 C T rs372318855 A3GALT2 Nonsynonymous SNV V46I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 133743 chr1 42046932 42046932 G C HIVEP3 Synonymous SNV P1179P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.006 133744 chr1 228346425 228346425 G C rs4653910 GJC2 Synonymous SNV A322A 0.003 0.003 0 3 3 1 0.008 0 1 0 0 0 Benign 0.546 133745 chr1 155015269 155015269 C T rs141127468 DCST1 Synonymous SNV Y292Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.7 133746 chr1 155015333 155015333 G A rs201316758 DCST1 0.001 0 0 0 1 0 0 0 0 0 0 0 24 133747 chr2 175213712 175213712 - T rs767124074 CIR1 Frameshift insertion I289Nfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 133748 chr2 176944960 176944960 C T EVX2 Nonsynonymous SNV D436N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 133749 chr1 43787300 43787300 C T TIE1 Nonsynonymous SNV R1042C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 133750 chr1 38048473 38048473 G C rs142907333 GNL2 Nonsynonymous SNV S51C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 21.9 133751 chr1 156264690 156264690 C G rs148281472 GLMP Nonsynonymous SNV V80L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.35 133752 chr2 179579062 179579062 G A rs200088963 TTN Synonymous SNV N7569N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 12.36 133753 chr1 237620022 237620022 G A RYR2 Synonymous SNV L533L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.16 133754 chr1 237774111 237774111 C T RYR2 Nonsynonymous SNV P1578L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 133755 chr1 228553779 228553779 C G OBSCN Synonymous SNV P6356P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 133756 chr1 40557750 40557750 T C rs142894102 PPT1 Nonsynonymous SNV N110S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.4 133757 chr1 245027169 245027169 G A HNRNPU Synonymous SNV D147D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.597 133758 chr1 236433197 236433197 C A ERO1B Nonsynonymous SNV R67I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 133759 chr1 158612645 158612645 T C rs201910178 SPTA1 Nonsynonymous SNV T1522A 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 Uncertain significance 14.82 133760 chr2 187373336 187373338 ACA - rs771050701 ZC3H15 N387del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 133761 chr1 23420658 23420658 C T rs901330271 LUZP1 Nonsynonymous SNV A33T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.9 133762 chr1 159175495 159175495 G A rs371909350 ACKR1 Nonsynonymous SNV R91H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.657 133763 chr1 45224901 45224901 G A rs7524294 KIF2C Synonymous SNV K375K 0.009 0.003 0.01 1 11 1 0.003 3 0 0 0 0 17.66 133764 chr2 191231419 191231419 A - rs746962744 INPP1 0 0 0.007 0 0 0 0 2 0 0 0 0 133765 chr2 192700735 192700735 T C rs150423095 CAVIN2 Nonsynonymous SNV S398G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 133766 chr1 55251699 55251699 C T rs144499726 TTC22 Nonsynonymous SNV R326Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.44 133767 chr1 160766016 160766016 T C rs149416710 LY9 Synonymous SNV P13P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 0.014 133768 chr1 32669918 32669918 G A rs140234450 CCDC28B Nonsynonymous SNV G155R 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 Benign 24.8 133769 chr1 244587290 244587290 G A rs201478770 ADSS2 Synonymous SNV C182C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.67 133770 chr1 1182011 1182011 G A rs1016723578 C1QTNF12 Synonymous SNV L20L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.313 133771 chr1 3440795 3440795 C A rs148559223 MEGF6 Nonsynonymous SNV R166L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.71 133772 chr1 244715847 244715847 G A rs760368231 CATSPERE Nonsynonymous SNV V103M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 133773 chr1 53553868 53553868 C A rs766288232 SLC1A7 Nonsynonymous SNV E433D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 133774 chr1 38185109 38185109 C T rs572328372 EPHA10 Synonymous SNV K911K 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 7.394 133775 chr1 72748084 72748084 G C rs142674139 NEGR1 Nonsynonymous SNV L32V 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 12.49 133776 chr1 38512163 38512163 C A POU3F1 Nonsynonymous SNV A85S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.04 133777 chr2 100209989 100209989 C T rs148703034 AFF3 Nonsynonymous SNV A737T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.172 133778 chr1 74818986 74818986 A G rs141955645 FPGT-TNNI3K, TNNI3K Synonymous SNV K323K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.29 133779 chr2 211471639 211471639 C T CPS1 Synonymous SNV S722S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 133780 chr1 40882753 40882753 A G rs61748797 SMAP2 Synonymous SNV Q353Q 0.008 0.008 0.01 5 9 3 0.013 3 0 0 0 0 5.224 133781 chr1 17292347 17292347 G A rs139131241 CROCC Nonsynonymous SNV R1512Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Likely benign 22 133782 chr1 173454586 173454586 G A rs182903064 PRDX6 Synonymous SNV L113L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.02 133783 chr2 105890081 105890081 C T rs143005481 TGFBRAP1 Nonsynonymous SNV D578N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 133784 chr1 35579660 35579660 A G rs772694310 ZMYM1 Nonsynonymous SNV I668M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.01 133785 chr2 111413371 111413371 C T rs772143908 BUB1 Synonymous SNV A587A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 133786 chr1 179064180 179064180 C T rs149476886 TOR3A Nonsynonymous SNV R341C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 133787 chr1 179292574 179292574 C T rs144927520 SOAT1 Stop gain R41X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 133788 chr1 53675762 53675762 C A rs369475478 CPT2 Nonsynonymous SNV P139H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 133789 chr1 181705515 181705515 A G CACNA1E Nonsynonymous SNV T1104A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 133790 chr2 11738942 11738942 A G GREB1 Synonymous SNV T763T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 133791 chr1 182442744 182442744 C T rs761803004 RGSL1 Synonymous SNV N166N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 133792 chr1 182499386 182499386 G A rs200119323 RGSL1 Nonsynonymous SNV M711I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.465 133793 chr1 182499387 182499387 C T rs201105035 RGSL1 Synonymous SNV L712L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 133794 chr1 27876899 27876899 C T rs140833719 AHDC1 Synonymous SNV A576A 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 13.57 133795 chr1 28279777 28279777 A T SMPDL3B Nonsynonymous SNV Q142L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 29 133796 chr1 33954073 33954073 A C ZSCAN20 Nonsynonymous SNV E142D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.274 133797 chr1 183617095 183617095 C T rs371872781 APOBEC4 Nonsynonymous SNV M274I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 133798 chr1 94487410 94487410 C T rs767980304 ABCA4 Nonsynonymous SNV V1589M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Uncertain significance 18.48 133799 chr1 94544239 94544239 C T rs568781940 ABCA4 Synonymous SNV L421L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 8.537 133800 chr2 231973499 231973499 C T rs568451050 HTR2B Nonsynonymous SNV R393Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 133801 chr1 32138059 32138059 G T rs774322836 COL16A1 Synonymous SNV G1021G 0.012 0.016 0 0 14 6 0 0 0 0 0 0 8.05 133802 chr2 231973651 231973651 A T rs760260232 HTR2B Synonymous SNV I342I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.582 133803 chr2 231974031 231974031 C T rs771946699 HTR2B Nonsynonymous SNV D216N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 133804 chr2 231988230 231988230 C T rs746308865 HTR2B Synonymous SNV K83K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 133805 chr2 231988239 231988239 T C rs775648508 HTR2B Synonymous SNV S80S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.103 133806 chr2 232035351 232035351 A G rs751952582 PSMD1 Synonymous SNV A898A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 133807 chr2 232100085 232100085 C T rs370669179 ARMC9 Synonymous SNV S257S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.3 133808 chr1 9657112 9657112 G A TMEM201 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 24.3 133809 chr1 36039962 36039962 T G rs2301902 TFAP2E Synonymous SNV P154P 0.008 0.005 0.01 6 9 2 0.015 3 1 0 0 0 4.723 133810 chr1 186099179 186099179 C T rs200984902 HMCN1 Nonsynonymous SNV T4329I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.4 133811 chr2 12863618 12863618 A G rs769503190 TRIB2 Nonsynonymous SNV D168G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 133812 chr1 3386093 3386093 G A rs374733522 ARHGEF16 Nonsynonymous SNV V320M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.179 133813 chr1 156621285 156621285 C T BCAN Synonymous SNV N367N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.34 133814 chr1 18691779 18691779 G A rs149990165 IGSF21 Synonymous SNV A201A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.28 133815 chr1 45223806 45223806 T C rs753065337 KIF2C Synonymous SNV N365N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.945 133816 chr2 237123325 237123325 C T rs6431437 ASB18 Nonsynonymous SNV G261S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.5 133817 chr1 46080794 46080794 G A rs767024962 NASP Synonymous SNV L528L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.82 133818 chr2 237489201 237489201 G A rs147894231 ACKR3 Synonymous SNV T31T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.08 133819 chr1 6533102 6533102 C T rs61730399 PLEKHG5 Nonsynonymous SNV D310N 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 133820 chr1 36935317 36935317 C T rs3917988 CSF3R Synonymous SNV A470A 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Benign/Likely benign 9.033 133821 chr1 3746432 3746432 G A rs148465057 CEP104 Nonsynonymous SNV R656C 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Benign 33 133822 chr2 239038966 239038966 G T rs140888386 ESPNL Synonymous SNV L169L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.601 133823 chr2 239039298 239039298 G T rs201635024 ESPNL Nonsynonymous SNV W280L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 133824 chr1 3809531 3809531 G A rs935858576 C1orf174 Synonymous SNV R15R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.873 133825 chr1 47746675 47746675 C G rs139912214 STIL Nonsynonymous SNV L485F 0.007 0.003 0.014 6 8 1 0.015 4 0 0 0 1 Conflicting interpretations of pathogenicity 2.955 133826 chr1 200880702 200880702 C T rs61740234 INAVA Nonsynonymous SNV P361S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 11.35 133827 chr1 201084463 201084463 C T rs539927723 ASCL5 Nonsynonymous SNV R13K 0.003 0 0 2 4 0 0.005 0 0 0 0 0 21.6 133828 chr1 43852566 43852566 G A rs768953362 MED8 Nonsynonymous SNV T36M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.9 133829 chr2 241533462 241533462 G A rs150113284 CAPN10 Synonymous SNV E276E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 14.59 133830 chr2 152424601 152424601 T C NEB Nonsynonymous SNV N4242S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.076 133831 chr1 201352263 201352263 C A rs199664903 LAD1 Nonsynonymous SNV R442L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 133832 chr1 41012255 41012255 A G ZNF684 Nonsynonymous SNV D87G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 133833 chr2 153514520 153514520 G A rs148892073 PRPF40A Synonymous SNV S889S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.27 133834 chr2 242054462 242054462 C T rs762076400 PASK Nonsynonymous SNV R1110Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 133835 chr20 13279767 13279767 C T rs773761462 ISM1 Synonymous SNV S352S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.49 133836 chr2 242756104 242756104 G A rs758294570 NEU4 Nonsynonymous SNV V86M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 133837 chr1 203143598 203143598 C T rs367830128 MYBPH Synonymous SNV P156P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.373 133838 chr1 86890081 86890081 G A rs747280983 CLCA2 Nonsynonymous SNV V51I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 133839 chr1 86904649 86904649 G T rs55906076 CLCA2 Nonsynonymous SNV D355Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 133840 chr20 30486354 30486354 G A TTLL9 Stop gain W64X 0.002 0 0 0 2 0 0 0 0 0 0 0 39 133841 chr1 59042336 59042336 C A rs765391686 TACSTD2 Nonsynonymous SNV G165C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 133842 chr1 20470066 20470066 C T rs148914485 PLA2G2F Synonymous SNV P56P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.11 133843 chr1 20471089 20471089 G A rs759763555 PLA2G2F Nonsynonymous SNV D68N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 133844 chr20 16385494 16385494 C G KIF16B Nonsynonymous SNV R583P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.4 133845 chr1 205549059 205549059 C T rs35952863 MFSD4A Synonymous SNV D137D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.817 133846 chr1 46088503 46088503 G A rs887742054 CCDC17 Synonymous SNV N220N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.016 133847 chr1 206224671 206224671 C T AVPR1B Synonymous SNV A77A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.74 133848 chr1 206225112 206225112 T C rs3891058 AVPR1B Synonymous SNV H224H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 133849 chr1 46290143 46290143 A G rs755013963 MAST2 Synonymous SNV K72K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.472 133850 chr1 89656974 89656974 G A rs61738489 GBP4 Synonymous SNV L296L 0.011 0.021 0.017 6 13 8 0.015 5 0 0 0 0 Benign 1.23 133851 chr1 206821238 206821238 G A rs56079317 DYRK3 Nonsynonymous SNV R232Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 133852 chr20 32307908 32307908 C G PXMP4 Nonsynonymous SNV G36R 0.002 0 0 0 2 0 0 0 0 0 0 0 35 133853 chr1 207134192 207134192 G A rs17018337 FCAMR Synonymous SNV D343D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.038 133854 chr1 207195520 207195520 G A rs114867640 C1orf116 Nonsynonymous SNV P284L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 133855 chr1 207195735 207195735 C T rs6693011 C1orf116 Synonymous SNV P212P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.77 133856 chr20 33500915 33500915 G A ACSS2 Nonsynonymous SNV G131R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 133857 chr1 207196337 207196337 T C rs12062114 C1orf116 Nonsynonymous SNV R12G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.163 133858 chr1 207196639 207196639 T G rs34660159 C1orf116 Nonsynonymous SNV N157T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.001 133859 chr1 207196790 207196790 T C rs35299018 C1orf116 Nonsynonymous SNV T107A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.012 133860 chr1 207236524 207236524 G A rs2629639 PFKFB2 Synonymous SNV A115A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.74 133861 chr20 34263111 34263111 G A NFS1 Synonymous SNV I217I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.19 133862 chr20 3543987 3543987 C T rs766458912 ATRN Nonsynonymous SNV S472L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 133863 chr1 6522120 6522120 C T rs367817707 TNFRSF25 Nonsynonymous SNV E104K 0.003 0 0 0 4 0 0 0 0 0 0 0 5.993 133864 chr2 175436757 175436757 G A rs139003789 WIPF1 Nonsynonymous SNV A259V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.4 133865 chr1 173839630 173839630 A G rs368152384 ZBTB37 Synonymous SNV T89T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.027 133866 chr1 93163529 93163529 T G rs200747400 EVI5 Nonsynonymous SNV E262A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 26.4 133867 chr2 39186908 39186908 G C rs557431429 LOC375196 0 0 0.003 0 0 0 0 1 0 0 0 0 2.833 133868 chr20 25062559 25062559 C A rs141241716 VSX1 Synonymous SNV P58P 0.002 0.01 0.007 1 2 4 0.003 2 0 0 0 0 Likely benign 13.15 133869 chr1 2105393 2105393 G A rs761837545 PRKCZ Nonsynonymous SNV R265H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 133870 chr2 48036394 48036394 T C rs747122948 FBXO11 Nonsynonymous SNV M820V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 133871 chr1 7880585 7880585 A T rs17031601 PER3 Synonymous SNV I614I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.004 133872 chr20 32162067 32162067 G C rs149392217 CBFA2T2 Nonsynonymous SNV V21L 0.009 0.016 0 7 10 6 0.018 0 0 0 0 0 0.049 133873 chr2 61404612 61404612 C G rs535911816 AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 133874 chr1 70611496 70611496 C A rs145973226 LRRC40 Nonsynonymous SNV R599L 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 35 133875 chr2 65131261 65131261 T - rs60677151 LINC02245 0 0 0.01 0 0 0 0 3 0 0 1 0 133876 chr1 86249998 86249998 G C rs182355949 COL24A1 Nonsynonymous SNV R671G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.07 133877 chr20 1630020 1630020 C T rs372025725 SIRPG Synonymous SNV Q36Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 7.538 133878 chr20 16348166 16348166 G A rs149275109 KIF16B Synonymous SNV V1268V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.07 133879 chr20 16496299 16496299 G A rs140237322 KIF16B Nonsynonymous SNV T81I 0 0.003 0 0 0 1 0 0 0 0 0 0 27 133880 chr20 17639766 17639766 - GGCCTTCTTGCCCTGGTTCTGGGCCCCCTT RRBP1 A462_E463insKGAQNQGKKA 0 0 0 0 0 0 0 0 0 0 0 0 133881 chr20 47879931 47879931 C A rs139038003 ZNFX1 Nonsynonymous SNV Q747H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 133882 chr20 36995464 36995464 G A rs143256886 LBP Nonsynonymous SNV V325I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 133883 chr20 49411578 49411578 G A BCAS4 Synonymous SNV G16G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.913 133884 chr20 50048964 50048964 C T rs780254214 NFATC2 Nonsynonymous SNV A768T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 8.652 133885 chr2 71783144 71783144 C T rs775539496 DYSF Nonsynonymous SNV T688M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.91 133886 chr20 50406840 50406840 C G rs61737142 SALL4 Nonsynonymous SNV A728P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 133887 chr20 39801220 39801220 A G rs981377278 PLCG1 Nonsynonymous SNV N1022S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 133888 chr20 50406892 50406892 C T rs61737143 SALL4 Synonymous SNV T710T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.111 133889 chr20 50408614 50408614 A G rs76870996 SALL4 Synonymous SNV N136N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.093 133890 chr20 51872330 51872330 C T rs143580078 TSHZ2 Nonsynonymous SNV S775L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 133891 chr2 74747111 74747111 G A rs143679936 DQX1 Nonsynonymous SNV R516C 0.007 0.008 0.01 2 8 3 0.005 3 0 0 0 0 24.9 133892 chr20 43353446 43353446 C G rs148068865 CCN5 Synonymous SNV P115P 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 11.54 133893 chr1 75171982 75171982 A G rs777759539 CRYZ X193R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.962 133894 chr20 56139357 56139357 A G PCK1 Nonsynonymous SNV D365G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 133895 chr1 198665840 198665840 G T PTPRC 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 133896 chr20 60640859 60640859 G C TAF4 Nonsynonymous SNV A3G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 133897 chr20 60885119 60885119 C A rs41310831 LAMA5 Nonsynonymous SNV D3585Y 0.008 0.003 0.014 1 9 1 0.003 4 0 0 0 0 23.8 133898 chr2 200684260 200684260 A G rs974603388 FTCDNL1 Synonymous SNV F144F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 1.8 133899 chr20 14066327 14066327 A G rs748816078 MACROD2 Nonsynonymous SNV Y75C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 133900 chr2 201531447 201531447 G A rs369814413 AOX1 Nonsynonymous SNV S1194N 0.003 0 0 0 3 0 0 0 0 0 0 0 32 133901 chr1 231885702 231885702 T C DISC1 Nonsynonymous SNV L33P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 133902 chr3 10191605 10191605 C T rs28940298 VHL Nonsynonymous SNV R159W 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 35 133903 chr20 3180666 3180666 C A rs35327491 DDRGK1 Nonsynonymous SNV R164L 0.003 0.018 0 3 3 7 0.008 0 0 0 0 0 35 133904 chr20 60920930 60920930 G A rs112470442 LAMA5 Nonsynonymous SNV T474M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.76 133905 chr1 23340451 23340451 G A rs61744632 TEX46 Synonymous SNV F30F 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 11.76 133906 chr1 23380259 23380259 G A rs61757704 KDM1A Synonymous SNV Q219Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 10.4 133907 chr20 17639617 17639617 T C rs755924146 RRBP1 Synonymous SNV G512G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.663 133908 chr1 23419806 23419806 A C rs12091554 LUZP1 Nonsynonymous SNV S317A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.338 133909 chr20 33568436 33568436 A G rs754236224 MYH7B Nonsynonymous SNV Y175C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 133910 chr3 108363050 108363050 A G rs960954872 DZIP3 Nonsynonymous SNV Y394C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.1 133911 chr1 203017391 203017391 C T rs369764915 PPFIA4 Nonsynonymous SNV R393W 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 22.8 133912 chr2 203407089 203407089 C T BMPR2 Synonymous SNV P444P 0.003 0 0 0 4 0 0 0 0 0 0 0 13.6 133913 chr20 61461758 61461758 G C rs377664853 COL9A3 Nonsynonymous SNV G403A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 133914 chr1 235299029 235299029 C T rs368049743 RBM34 Nonsynonymous SNV V315M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 133915 chr20 34568506 34568506 C G rs766935659 CNBD2 Synonymous SNV P123P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.805 133916 chr20 35491136 35491136 C T rs530406908 SOGA1 Synonymous SNV E204E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.48 133917 chr1 236734896 236734896 T C rs61730304 HEATR1 Synonymous SNV L1266L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 8.623 133918 chr20 37267924 37267924 G A rs147854857 ARHGAP40 Nonsynonymous SNV E391K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.2 133919 chr3 118529665 118529665 T C rs746320362 LOC105374060 0 0 0.003 0 0 0 0 1 0 0 0 0 1.388 133920 chr20 25457255 25457255 G A rs761674628 NINL Nonsynonymous SNV P891L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 133921 chr1 23885480 23885480 A C rs11542317 ID3 Nonsynonymous SNV S111A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 14.72 133922 chr1 24019189 24019189 C T rs144975829 RPL11 Synonymous SNV L33L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.65 133923 chr1 241729889 241729889 G A rs142152979 KMO Synonymous SNV P262P 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 13.75 133924 chr20 1616986 1616986 G T rs142262583 SIRPG Nonsynonymous SNV T199K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.009 133925 chr3 121207510 121207516 AATAGTA - rs546221341 POLQ I1421Rfs*8 0.002 0 0.007 0 2 0 0 2 0 0 0 0 133926 chr1 24397718 24397718 G A rs114185181 MYOM3 Synonymous SNV N1013N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.119 133927 chr1 24433697 24433697 A T rs115258728 MYOM3 Nonsynonymous SNV S90T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.07 133928 chr20 61444864 61444923 GAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT - OGFR E636_A655del 0.004 0 0 0 5 0 0 0 0 0 0 0 133929 chr1 24454676 24454676 C A rs34379702 IL22RA1 Nonsynonymous SNV A209S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.107 133930 chr1 24454734 24454734 G A rs35240302 IL22RA1 Synonymous SNV F189F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.176 133931 chr1 24460844 24460844 A G rs34900099 IL22RA1 Nonsynonymous SNV S130P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.111 133932 chr20 13765755 13765755 C T rs562335414 NDUFAF5 Nonsynonymous SNV P14L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.855 133933 chr1 24483643 24483643 A G rs59631801 IFNLR1 Synonymous SNV L514L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 1.915 133934 chr20 44979160 44979160 T C rs143795303 SLC35C2 Nonsynonymous SNV D210G 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 19.89 133935 chr1 24664160 24664160 A G GRHL3 Nonsynonymous SNV I195V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 133936 chr2 219509553 219509553 A G rs749921603 ZNF142 Synonymous SNV H562H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.8 133937 chr20 35071154 35071154 C T rs765802034 DLGAP4 Nonsynonymous SNV P461S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 133938 chr21 32526707 32526707 T G rs200356631 TIAM1 Nonsynonymous SNV H43P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 133939 chr20 62198961 62198961 G A rs116816080 HELZ2 Nonsynonymous SNV R15W 0.006 0.005 0.007 6 7 2 0.015 2 0 0 0 0 Likely benign 27.2 133940 chr20 62332037 62332037 A G ARFRP1 X122R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.461 133941 chr21 35895896 35895896 G A RCAN1 Nonsynonymous SNV A41V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 133942 chr20 20016859 20016859 C T rs35201190 CRNKL1 Nonsynonymous SNV V682I 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.862 133943 chr20 56793565 56793565 T C ANKRD60 Nonsynonymous SNV M342V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 133944 chr21 39817407 39817407 A G rs144701181 ERG Synonymous SNV P52P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.229 133945 chr3 130098654 130098654 T C COL6A5 Nonsynonymous SNV V354A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.72 133946 chr20 57769563 57769563 C A rs141529751 ZNF831 Nonsynonymous SNV S1163R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.76 133947 chr20 32194875 32194875 C T rs368396948 CBFA2T2 Nonsynonymous SNV P50S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.4 133948 chr20 58471557 58471557 C T SYCP2 Nonsynonymous SNV M477I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 133949 chr3 130718465 130718465 T C ATP2C1 Nonsynonymous SNV L859P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 133950 chr1 225704917 225704917 G A rs765387144 ENAH Synonymous SNV A298A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.45 133951 chr2 227661393 227661393 C T rs751466820 IRS1 Nonsynonymous SNV A688T 0.009 0 0 1 10 0 0.003 0 0 0 0 0 7.742 133952 chr21 43412723 43412723 A G rs61751934 ZBTB21 Synonymous SNV F494F 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.024 133953 chr20 36150825 36150825 C T rs146216449 NNAT Synonymous SNV P46P 0.003 0.003 0.01 4 3 1 0.01 3 0 0 0 0 11.23 133954 chr3 138665013 138665013 G A FOXL2 Synonymous SNV D184D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 133955 chr1 27875385 27875393 GCAGAGGTG - rs754444655 AHDC1 T1079_A1081del 0.003 0 0 0 4 0 0 0 0 0 0 0 133956 chr3 142176480 142176480 T G rs762108631 ATR Synonymous SNV R2477R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.096 133957 chr3 142403001 142403001 T C rs78264424 PLS1 Nonsynonymous SNV S245P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 133958 chr1 28285155 28285155 T C rs143078230 SMPDL3B Nonsynonymous SNV Y186H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 133959 chr20 61597920 61597920 G A rs186348088 SLC17A9 Nonsynonymous SNV G369S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 133960 chr20 52192512 52192512 G C rs41274706 ZNF217 Nonsynonymous SNV Q931E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 133961 chr3 148744720 148744720 G A GYG1 Nonsynonymous SNV R261K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 133962 chr3 149488378 149488378 G A rs538883341 ANKUB1 Nonsynonymous SNV R179C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.7 133963 chr1 32678180 32678180 A G rs200413736 DCDC2B Nonsynonymous SNV K206R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 26.1 133964 chr3 151046165 151046165 A G rs531618516 P2RY13 Nonsynonymous SNV F227L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 133965 chr20 57248702 57248702 A C rs375261884 STX16 Synonymous SNV R266R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.588 133966 chr3 151986262 151986262 C T rs17433672 MBNL1-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 Benign 10.7 133967 chr20 398561 398561 G C RBCK1 Nonsynonymous SNV C33S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.839 133968 chr20 42143955 42143955 C T rs950235582 L3MBTL1 Nonsynonymous SNV S136L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 133969 chr20 62657405 62657405 C T rs151209735 PRPF6 Synonymous SNV T674T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 133970 chr2 237490035 237490035 C T rs377636426 ACKR3 Synonymous SNV C309C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.75 133971 chr11 61120494 61120494 C T rs761211994 CYB561A3, TKFC Nonsynonymous SNV V171I 0 0 0 3 0 0 0.008 0 0 0 0 0 24.5 133972 chr1 36359669 36359669 A G rs2296470 AGO1 Synonymous SNV P152P 0.005 0.005 0.014 1 6 2 0.003 4 0 0 0 0 0.644 133973 chr1 36550658 36550658 C T rs12043423 TEKT2 Nonsynonymous SNV R46C 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 26.7 133974 chr1 36556867 36556867 C T rs768000 ADPRHL2 Synonymous SNV D78D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 11.77 133975 chr20 52786155 52786155 C T rs115260488 CYP24A1 Nonsynonymous SNV E206K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 133976 chr2 239049718 239049718 G A rs199604026 KLHL30 Nonsynonymous SNV R108H 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.3 133977 chr20 44581268 44581268 G T rs760998307 ZNF335 Nonsynonymous SNV A928D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 133978 chr20 44581269 44581269 C T rs764655342 ZNF335 Nonsynonymous SNV A928T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 133979 chr2 24092589 24092589 A G rs192209373 ATAD2B Synonymous SNV S340S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.273 133980 chr1 39880081 39880081 G A rs746582812 KIAA0754 Nonsynonymous SNV E1382K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.6 133981 chr20 46264407 46264407 G A rs529456958 NCOA3 Nonsynonymous SNV R485H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 133982 chr3 178917614 178917614 A G rs201815341 PIK3CA Synonymous SNV A163A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.636 133983 chr20 61917500 61917500 C T ARFGAP1 Stop gain R335X 0.002 0 0 0 2 0 0 0 0 0 0 0 5.824 133984 chr20 48252880 48252880 G A B4GALT5 Nonsynonymous SNV T379I 0.003 0 0 0 4 0 0 0 0 0 0 0 22.1 133985 chr20 50781298 50781298 - A rs750846120 ZFP64 0.001 0 0 0 1 0 0 0 0 0 0 0 133986 chr20 51870998 51870998 A C rs757703689 TSHZ2 Nonsynonymous SNV D331A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 133987 chr1 43772899 43772899 G A rs549585866 TIE1 Nonsynonymous SNV E198K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 133988 chr2 242815059 242815059 C T rs28368764 RTP5 Nonsynonymous SNV A451V 0.014 0.01 0.01 5 17 4 0.013 3 0 0 0 0 8.87 133989 chr1 43906169 43906169 G A rs72637949 SZT2 Nonsynonymous SNV R2362Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.6 133990 chr3 184769715 184769715 C G rs141411209 VPS8 Nonsynonymous SNV P1384A 0 0 0.007 2 0 0 0.005 2 0 0 0 0 14.71 133991 chr3 185986694 185986694 C T rs199552752 DGKG Nonsynonymous SNV A338T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.3 133992 chr3 185990071 185990071 C T rs147502826 DGKG Synonymous SNV T324T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.02 133993 chr1 45110404 45110404 C T rs147534605 RNF220 Synonymous SNV N174N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.949 133994 chr1 45120306 45120306 G A rs146854533 TMEM53 Synonymous SNV V180V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.754 133995 chr21 40571061 40571061 T C rs765419042 BRWD1 Nonsynonymous SNV K1761E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.17 133996 chr1 247769299 247769299 C A OR2G3 Nonsynonymous SNV P138T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.4 133997 chr20 9547010 9547010 T G rs376623256 PAK5 Nonsynonymous SNV M338L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.47 133998 chr3 187898340 187898340 A G rs555152598 FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 4.359 133999 chr22 27456186 27456186 G A rs745410513 LOC284898 Synonymous SNV L45L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.691 134000 chr22 28194933 28194933 - TGCTGC MN1 Q550_R551insQQ 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 134001 chr21 42762560 42762560 C T rs376144948 MX2 Synonymous SNV N267N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 134002 chr21 19651329 19651329 G C rs147119206 TMPRSS15 Nonsynonymous SNV P906A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.001 134003 chr21 19670083 19670083 T C rs770191909 TMPRSS15 Synonymous SNV T743T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.015 134004 chr22 30416858 30416858 C G rs374435521 MTMR3 Nonsynonymous SNV D1070E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 134005 chr22 24035178 24035178 G A rs564151649 RGL4 Synonymous SNV A232A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.044 134006 chr21 31986114 31986114 C T rs145876389 KRTAP6-1 Nonsynonymous SNV C37Y 0.005 0 0 1 6 0 0.003 0 0 0 0 0 13.83 134007 chr3 197236327 197236327 G A rs2567369 LINC02012 0 0 0.014 0 0 0 0 4 0 0 2 0 0.952 134008 chr2 32288998 32288998 C T rs777721232 SPAST Nonsynonymous SNV P33L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.3 134009 chr21 35893690 35893690 C T rs111863131 RCAN1 Synonymous SNV P176P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.992 134010 chr22 37266320 37266320 G A rs548659876 NCF4-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.056 134011 chr22 37887865 37887865 G A CARD10 Synonymous SNV L921L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.478 134012 chr3 37845409 37845409 G C rs141021379 ITGA9 Synonymous SNV L995L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.74 134013 chr21 42647372 42647372 G A rs149345353 BACE2 Nonsynonymous SNV A410T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.366 134014 chr3 38411656 38411656 C G rs140797435 XYLB Nonsynonymous SNV C115W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.15 134015 chr22 32554997 32554997 G A rs78036098 C22orf42 Nonsynonymous SNV T69M 0.004 0.01 0.01 4 5 4 0.01 3 0 0 0 0 14.12 134016 chr3 38739727 38739727 C T rs151090729 SCN10A Nonsynonymous SNV G1564S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 32 134017 chr22 18256445 18256445 C T BID Nonsynonymous SNV G4D 0 0.005 0 0 0 2 0 0 0 0 0 0 8.539 134018 chr1 6267572 6267572 G T RNF207 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 134019 chr20 8862395 8862395 C T rs28390202 PLCB1 Nonsynonymous SNV L1184F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.225 134020 chr3 41973460 41973460 G C rs35833603 ULK4 Nonsynonymous SNV N139K 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 24.7 134021 chr11 78574155 78574155 G C TENM4 Nonsynonymous SNV N369K 0 0 0 3 0 0 0.008 0 0 0 0 0 28 134022 chr1 6528069 6528069 C G rs114619322 PLEKHG5 Nonsynonymous SNV G943R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 4.1 134023 chr1 6528320 6528320 C T rs61737997 PLEKHG5 Nonsynonymous SNV R859H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 27.8 134024 chr22 42276967 42276967 A C SREBF2 Nonsynonymous SNV Y670S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 134025 chr21 22910249 22910249 C G rs150466591 NCAM2 Nonsynonymous SNV Q687E 0.005 0 0 6 6 0 0.015 0 0 0 0 0 15.07 134026 chr1 65871634 65871634 C T rs762235583 DNAJC6 Nonsynonymous SNV A770V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 134027 chr11 86118689 86118689 T C rs7933986 CCDC81 Synonymous SNV S215S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 0.994 134028 chr1 6661981 6661981 G A rs2232456 KLHL21 Synonymous SNV D299D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.603 134029 chr1 6680083 6680083 A G rs141594576 PHF13 Nonsynonymous SNV K121R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 134030 chr3 44951650 44951650 C T rs140488025 TGM4 Stop gain R466X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.5 134031 chr22 23401865 23401865 G T rs55964741 RSPH14 Synonymous SNV I274I 0.003 0.008 0 0 4 3 0 0 0 0 0 0 7.649 134032 chr22 38525561 38525561 G A rs2413502 PLA2G6 Synonymous SNV N136N 0.007 0.005 0.014 6 8 2 0.015 4 0 0 1 0 Benign 12.39 134033 chr22 38882027 38882027 C T rs13996 DDX17 Synonymous SNV P703P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 11.16 134034 chr1 3807507 3807507 A C rs140955464 C1orf174 Nonsynonymous SNV S82A 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 0.001 134035 chr22 39095849 39095849 G C rs6001200 JOSD1 Nonsynonymous SNV S48R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.46 134036 chr1 3809528 3809528 C T rs35157037 C1orf174 Synonymous SNV L16L 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 7.611 134037 chr22 24466852 24466852 C T rs200194811 CABIN1 Synonymous SNV A728A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.17 134038 chr22 24627485 24627485 C T rs759432720 GGT5 Synonymous SNV T179T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 134039 chr2 7005203 7005203 T C rs555496512 CMPK2 Nonsynonymous SNV S209G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 134040 chr22 42180353 42180353 C T rs190911941 MEI1 Nonsynonymous SNV T1033I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.4 134041 chr3 47163343 47163343 G C rs72895708 SETD2 Nonsynonymous SNV T884R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.55 134042 chr3 47288913 47288913 T C rs75653157 KIF9 Nonsynonymous SNV I395V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.11 134043 chr1 82372775 82372775 G A rs759539614 ADGRL2 Synonymous SNV L49L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 134044 chr22 43024189 43024189 G A rs112669378 CYB5R3 Synonymous SNV G144G 0.006 0 0.014 2 7 0 0.005 4 0 0 0 0 Benign 13.46 134045 chr3 4767256 4767256 C T rs201937660 ITPR1 Synonymous SNV N1706N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 134046 chr3 4829760 4829760 A C ITPR1 Nonsynonymous SNV N2186H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 134047 chr21 37610918 37610918 T A rs914642967 DOP1B Nonsynonymous SNV L932Q 0.002 0 0 0 2 0 0 0 0 0 0 0 31 134048 chr1 85537631 85537631 C G rs148724953 WDR63 Nonsynonymous SNV P3A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 12.34 134049 chr22 28194934 28194936 TGC - rs777004766 MN1 Q550del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 134050 chr2 73613040 73613040 - GGA ALMS1 E28_A29insE 0.008 0 0 4 9 0 0.01 0 0 0 0 0 134051 chr22 44322922 44322922 T C rs2076213 PNPLA3 Nonsynonymous SNV C99R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.012 134052 chr2 74433012 74433012 T G rs752475443 MTHFD2 Synonymous SNV V94V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.622 134053 chr3 49570215 49570215 C T rs78281659 DAG1 Synonymous SNV A757A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.45 134054 chr3 49662470 49662470 C T rs200764425 BSN Nonsynonymous SNV P96L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.647 134055 chr21 42840416 42840416 T C TMPRSS2 Synonymous SNV T444T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.002 134056 chr3 50138145 50138145 A T rs73835203 RBM5-AS1 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.025 134057 chr3 50153007 50153007 A C rs888302784 RBM5 Synonymous SNV L662L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.491 134058 chr1 881002 881002 C T rs775649472 NOC2L Nonsynonymous SNV R650Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 134059 chr22 46785302 46785302 G A rs368292734 CELSR1 Nonsynonymous SNV T2147M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.86 134060 chr2 8998971 8998971 T C rs35943010 MBOAT2 Synonymous SNV K334K 0.009 0 0.003 1 10 0 0.003 1 0 0 0 0 0.271 134061 chr3 52727449 52727449 C A GNL3 Nonsynonymous SNV P405T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.632 134062 chr22 50658440 50658440 A G rs756367818 TUBGCP6 Synonymous SNV P1371P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.344 134063 chr21 46271312 46271312 G A rs781393671 PTTG1IP Synonymous SNV D133D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.712 134064 chr11 116692517 116692517 T C APOA4 Nonsynonymous SNV E86G 0 0 0 3 0 0 0.008 0 0 0 0 0 9.282 134065 chr22 37696975 37696975 G A rs758613502 CYTH4 Synonymous SNV P97P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.6 134066 chr1 93101870 93101870 G A rs199709012 EVI5 Synonymous SNV N456N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.11 134067 chr2 99006129 99006129 C T rs34314205 CNGA3 Nonsynonymous SNV T135M 0.013 0.016 0.007 5 15 6 0.013 2 1 0 0 0 Benign 12.73 134068 chr21 46934932 46934932 G A rs141599346 SLC19A1 Synonymous SNV A476A 0.01 0.005 0.017 6 12 2 0.015 5 0 0 0 1 5.63 134069 chr21 47545225 47545225 G A rs747602311 COL6A2 Nonsynonymous SNV D606N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.7 134070 chr22 29706919 29706919 G C rs61737777 GAS2L1 Nonsynonymous SNV R314P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 134071 chr22 30413936 30413936 T C rs768063349 MTMR3 Synonymous SNV H565H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 5.836 134072 chr3 10254968 10254968 C T rs56154338 IRAK2 Synonymous SNV D202D 0.007 0.008 0.003 4 8 3 0.01 1 1 0 0 0 13.3 134073 chr2 110922664 110922664 C T rs746229585 NPHP1 Synonymous SNV V169V 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 13.12 134074 chr1 55166120 55166120 C G rs147744184 MROH7 Nonsynonymous SNV R549G 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 19.62 134075 chr2 10199002 10199002 A G CYS1 Nonsynonymous SNV I152T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.1 134076 chr22 32009471 32009471 C T rs375385233 SFI1 Synonymous SNV S844S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.934 134077 chr22 40139771 40139771 G A ENTHD1 Synonymous SNV I579I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.338 134078 chr22 40696524 40696524 G A rs776979893 TNRC6B Synonymous SNV G1148G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 134079 chr22 41513774 41513774 C G rs147244947 EP300 Synonymous SNV G226G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 9.594 134080 chr2 103299862 103299862 G A rs758758483 SLC9A2 Nonsynonymous SNV V383M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.5 134081 chr22 41566434 41566434 A C rs150941761 EP300 Synonymous SNV A1411A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 8.744 134082 chr2 10581715 10581715 G A rs753071023 ODC1 Synonymous SNV G258G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 134083 chr22 41631250 41631250 C T rs9619954 CHADL Nonsynonymous SNV D721N 0.014 0.01 0.014 0 16 4 0 4 0 0 0 0 21.4 134084 chr22 41631282 41631282 T C rs9619955 CHADL Nonsynonymous SNV Q710R 0.014 0.01 0.01 0 16 4 0 3 0 0 0 0 15.05 134085 chr22 41633453 41633453 C T rs149122050 CHADL Synonymous SNV L541L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.041 134086 chr2 107429603 107429603 C G rs758726494 ST6GAL2 Nonsynonymous SNV E466Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.884 134087 chr22 37455435 37455435 G A KCTD17 Nonsynonymous SNV S197N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.224 134088 chr22 43218276 43218276 A G rs200650865 ARFGAP3 Nonsynonymous SNV I227T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 134089 chr20 17602348 17602348 G A rs201544272 RRBP1 Nonsynonymous SNV A1104V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 134090 chr22 43287079 43287079 G A rs762275619 PACSIN2 Synonymous SNV F68F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 134091 chr2 119604724 119604724 T G EN1 Nonsynonymous SNV E7A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.7 134092 chr22 37695286 37695286 G A rs142730044 CYTH4 Nonsynonymous SNV V68I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 134093 chr20 18395153 18395153 C T rs117387390 DZANK1 Nonsynonymous SNV G188S 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 15.08 134094 chr22 37770048 37770048 G A rs146010699 ELFN2 Synonymous SNV A509A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.096 134095 chr1 63877628 63877628 G T ALG6 Nonsynonymous SNV V238F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 134096 chr20 18396091 18396091 C T rs75610827 DZANK1 Synonymous SNV S146S 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 3.664 134097 chr1 6610486 6610486 G A rs148133108 NOL9 Nonsynonymous SNV R196W 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 24.9 134098 chr2 115822349 115822349 G T rs114821649 DPP10 Nonsynonymous SNV E5D 0.008 0.01 0.007 2 9 4 0.005 2 0 1 0 0 0.001 134099 chr22 44543767 44543767 G A rs569063587 PARVB Nonsynonymous SNV D210N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 134100 chr2 128331624 128331624 G A rs761285164 MYO7B Nonsynonymous SNV R241Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 34 134101 chr2 11913845 11913845 G C rs145180224 LPIN1 Synonymous SNV S232S 0.009 0.005 0.014 2 10 2 0.005 4 0 0 0 0 Benign/Likely benign 10.84 134102 chr22 38528943 38528943 C T rs147755372 PLA2G6 Synonymous SNV A98A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 16.37 134103 chr11 125366807 125366807 C T rs2105598 LOC403312 0.007 0.005 0 3 8 2 0.008 0 1 0 0 0 4.33 134104 chr2 128608209 128608209 T C POLR2D Nonsynonymous SNV N102S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 134105 chr20 31023383 31023383 T G ASXL1 Synonymous SNV L895L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.256 134106 chr20 31023384 31023384 A C ASXL1 Nonsynonymous SNV T896P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 134107 chr22 50684389 50684389 C T rs201027749 HDAC10 Nonsynonymous SNV A575T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.055 134108 chr1 79128528 79128528 A C rs140765185 IFI44 Nonsynonymous SNV D418A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 27.3 134109 chr2 131797624 131797624 C G ARHGEF4 Nonsynonymous SNV D1447E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 134110 chr12 417113 417113 G A rs769253632 KDM5A Nonsynonymous SNV A1146V 0 0 0 2 0 0 0.005 0 0 0 0 0 21.5 134111 chr3 126185161 126185161 G A rs202194151 ZXDC Synonymous SNV C426C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.29 134112 chr20 3193818 3193818 G A rs777033296 ITPA Nonsynonymous SNV V24I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 17.14 134113 chr4 1206089 1206089 G A rs199614101 CTBP1 Nonsynonymous SNV P421L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 134114 chr20 33583302 33583302 C T rs202055718 MYH7B Nonsynonymous SNV T997M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 134115 chr2 152531060 152531060 C T rs368682145 NEB Synonymous SNV K1306K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 15.77 134116 chr3 128994049 128994049 A G rs760971169 COPG1 Nonsynonymous SNV N803S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.17 134117 chr20 37580317 37580317 C T FAM83D Synonymous SNV H304H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 134118 chr2 109085455 109085455 A G rs142334581 GCC2 Nonsynonymous SNV D79G 0 0 0 0 0 0 0 0 0 0 0 0 20.9 134119 chr22 50439241 50439241 G C rs376895359 IL17REL Nonsynonymous SNV T111R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 134120 chr2 111431679 111431679 C T rs754564766 BUB1 Nonsynonymous SNV S50N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.583 134121 chr20 43940538 43940538 T G RBPJL Nonsynonymous SNV S130A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.738 134122 chr2 155099239 155099239 C T rs187976407 GALNT13 Synonymous SNV Y169Y 0.003 0 0 0 4 0 0 0 0 0 0 0 11.55 134123 chr3 131186985 131186985 T C MRPL3 Nonsynonymous SNV I282V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 6.462 134124 chr20 44003976 44003976 A T TP53TG5 Synonymous SNV P157P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 134125 chr3 1320181 1320181 C G rs181351334 CNTN6 Nonsynonymous SNV P76R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.9 134126 chr22 50636390 50636390 C T rs374726901 TRABD Synonymous SNV A274A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.66 134127 chr1 90400034 90400034 G A rs371125847 LRRC8D Synonymous SNV Q469Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.197 134128 chr22 37771437 37771437 G A rs148502713 ELFN2 Synonymous SNV Y46Y 0.006 0.01 0 5 7 4 0.013 0 0 1 0 0 0.39 134129 chr20 44856208 44856208 G A rs139135859 CDH22 Synonymous SNV S203S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.51 134130 chr4 15005754 15005754 - GGGGGGGGGGGGGGCC CPEB2 Frameshift insertion F488Gfs*69 0 0 0.003 0 0 0 0 1 0 0 0 0 134131 chr20 4680091 4680091 G A rs776922173 PRNP Nonsynonymous SNV A46T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.111 134132 chr22 50942296 50942296 G A rs201520236 LMF2 Nonsynonymous SNV P561S 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 134133 chr2 169820801 169820801 C T rs138642043 ABCB11 Nonsynonymous SNV R698H 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Benign/Likely benign 25.5 134134 chr22 38483189 38483189 A G rs200068984 BAIAP2L2 Nonsynonymous SNV S401P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.091 134135 chr22 50967581 50967581 G A rs199901350 TYMP Nonsynonymous SNV A134V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 34 134136 chr22 38483195 38483195 T C rs199842190 BAIAP2L2 Nonsynonymous SNV M399V 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.002 134137 chr20 47990260 47990260 G A rs112735799 KCNB1 Nonsynonymous SNV P613S 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 Benign 1.593 134138 chr4 155241830 155241830 C T rs757472021 DCHS2 Nonsynonymous SNV R1574H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 134139 chr2 165552043 165552043 T C rs146060190 COBLL1 Nonsynonymous SNV H620R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.171 134140 chr2 173355989 173355989 C T rs138874769 ITGA6 Nonsynonymous SNV P940L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 31 134141 chr2 173457692 173457692 A T rs56355417 PDK1 Synonymous SNV S362S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.147 134142 chr22 40805520 40805520 G A rs185553417 SGSM3 Synonymous SNV A632A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.92 134143 chr2 173600763 173600763 T G RAPGEF4 Nonsynonymous SNV C18G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 134144 chr4 156136069 156136069 C T rs138080356 NPY2R Synonymous SNV G326G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.021 134145 chr2 121989489 121989489 G T rs2304667 TFCP2L1 Synonymous SNV I418I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 134146 chr2 167168244 167168244 C T SCN9A Nonsynonymous SNV G8E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.7 134147 chr3 1414062 1414062 C A rs1008119693 CNTN6 Synonymous SNV S420S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14 134148 chr4 159791564 159791564 C T rs781111132 FNIP2 Synonymous SNV T610T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 134149 chr3 142136040 142136040 C T rs374307743 XRN1 Nonsynonymous SNV V460I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 134150 chr4 164393464 164393464 G A rs200182075 TKTL2 Stop gain R475X 0.001 0 0.007 0 1 0 0 2 0 0 0 0 36 134151 chr3 14703205 14703205 G A rs56350241 CCDC174 Nonsynonymous SNV S159N 0.008 0 0.007 4 9 0 0.01 2 0 0 0 0 Likely benign 18.74 134152 chr2 133540566 133540566 G A NCKAP5 Nonsynonymous SNV A1273V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 134153 chr22 44161261 44161261 T A rs34459061 EFCAB6 Nonsynonymous SNV T122S 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 0.002 134154 chr20 1616118 1616118 G A rs9974013 SIRPG Synonymous SNV C292C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.586 134155 chr2 11765383 11765383 G A rs193173098 GREB1 Synonymous SNV P1417P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.765 134156 chr3 15737665 15737665 A G rs773786889 ANKRD28 Synonymous SNV Y361Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.804 134157 chr20 60901756 60901756 G A rs369951035 LAMA5 Nonsynonymous SNV R1759C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 134158 chr4 184615166 184615166 T C rs75176151 TRAPPC11 Nonsynonymous SNV V828A 0.012 0.01 0.017 2 14 4 0.005 5 0 0 0 0 Benign 23.4 134159 chr2 15746128 15746128 T A rs781409965 DDX1 Nonsynonymous SNV L227H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 134160 chr22 47193351 47193351 C T rs766520720 TBC1D22A Synonymous SNV S110S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.17 134161 chr3 16237310 16237310 G A rs760602999 GALNT15 Nonsynonymous SNV V195I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.42 134162 chr2 179431774 179431774 A G rs529839486 TTN Nonsynonymous SNV M17297T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 12.38 134163 chr2 189898846 189898846 C T rs147420365 COL5A2 Nonsynonymous SNV G1484S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 134164 chr2 128383104 128383104 C T rs141069626 MYO7B Synonymous SNV C1377C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 134165 chr2 192141628 192141628 A C MYO1B Nonsynonymous SNV K3Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 19.16 134166 chr2 135711690 135711690 C T CCNT2 Synonymous SNV D555D 0.003 0 0 0 3 0 0 0 0 0 0 0 8.1 134167 chr20 62202144 62202144 G A rs200446454 HELZ2 Nonsynonymous SNV T119M 0.009 0.003 0 0 11 1 0 0 0 0 0 0 3.74 134168 chr3 179052028 179052028 T G rs373225710 ZNF639 Nonsynonymous SNV L426V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 134169 chr20 25439125 25439125 T C rs116267316 NINL Nonsynonymous SNV Q897R 0.006 0.005 0 0 7 2 0 0 0 0 0 0 8.237 134170 chr20 25456819 25456819 C T rs138017411 NINL Synonymous SNV Q1036Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 5.592 134171 chr20 25460861 25460861 G A rs35054550 NINL Nonsynonymous SNV T618M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.85 134172 chr3 182733267 182733267 C T MCCC1 Nonsynonymous SNV E596K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 134173 chr20 25491353 25491353 G A rs75652027 NINL Synonymous SNV A158A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.244 134174 chr20 29896333 29896333 T A rs6119768 DEFB116 Nonsynonymous SNV Q19L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.02 134175 chr2 202590095 202590095 C T rs371454893 ALS2 Nonsynonymous SNV G1111S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 35 134176 chr12 42778747 42778747 G A rs140585847 PPHLN1 Nonsynonymous SNV V118M 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.09 134177 chr2 150427671 150427671 A G MMADHC Synonymous SNV A208A 0.004 0 0 0 5 0 0 0 0 0 0 0 7.302 134178 chr20 870988 870988 G T rs370865591 ANGPT4 Synonymous SNV I111I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.873 134179 chr20 30438469 30438469 T C rs73903661 DUSP15 Nonsynonymous SNV H146R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 134180 chr2 185801470 185801470 G T rs112386296 ZNF804A Synonymous SNV T449T 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 8.49 134181 chr2 152292076 152292076 A G rs187558254 RIF1 Nonsynonymous SNV M393V 0.003 0 0 0 3 0 0 0 0 0 0 0 3.768 134182 chr12 45444464 45444464 G - rs968296283 DBX2 Stop gain L83* 0.004 0 0 2 5 0 0.005 0 0 0 0 0 134183 chr12 46322524 46322524 T C rs146750023 SCAF11 Synonymous SNV T320T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.155 134184 chr20 30582896 30582896 C T rs138631281 XKR7 Synonymous SNV L204L 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 18.17 134185 chr20 30584531 30584531 C T rs112568117 XKR7 Synonymous SNV C337C 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 11.46 134186 chr2 152473911 152473911 C G rs149025191 NEB Nonsynonymous SNV M3473I 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 Benign/Likely benign 20.3 134187 chr20 31022480 31022480 C T rs79865730 ASXL1 Synonymous SNV T594T 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 Benign 14.07 134188 chr20 31023500 31023500 C T rs62206933 ASXL1 Synonymous SNV H934H 0.009 0.003 0.007 1 10 1 0.003 2 0 0 0 0 Benign 14.18 134189 chr20 31024488 31024488 C T rs6057581 ASXL1 Nonsynonymous SNV L1264F 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 Benign 21.2 134190 chr20 31386332 31386332 G A rs150314851 DNMT3B Synonymous SNV Q423Q 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 12.05 134191 chr2 207175351 207175351 T C rs373884637 ZDBF2 Synonymous SNV H2033H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.287 134192 chr21 27086550 27086550 G C rs745512042 JAM2 Nonsynonymous SNV W291S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 134193 chr12 49416412 49416412 G A rs975080118 KMT2D Synonymous SNV N5433N 0.001 0 0 8 1 0 0.021 0 0 0 0 0 Uncertain significance 10.45 134194 chr20 31878822 31878822 G A rs61737874 BPIFB1 Nonsynonymous SNV R142H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.015 134195 chr2 187490298 187490298 T C rs746647952 ITGAV Synonymous SNV Y123Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.089 134196 chr20 31885340 31885340 G A rs45473499 BPIFB1 Nonsynonymous SNV V203M 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24 134197 chr4 39458038 39458038 G T rs202000648 RPL9 Synonymous SNV R127R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.297 134198 chr20 32302490 32302490 G A rs773129070 PXMP4 Nonsynonymous SNV R56W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 134199 chr4 40104288 40104288 G A rs202029831 N4BP2 Nonsynonymous SNV V275I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 134200 chr3 189838477 189838477 - GCAGCA P3H2 L14_P15insLL 0.003 0 0.003 0 3 0 0 1 0 0 0 0 134201 chr20 32336855 32336855 C T rs758469627 ZNF341 Nonsynonymous SNV P66S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.2 134202 chr21 34809232 34809232 C T rs202237583 IFNGR2 Nonsynonymous SNV P326L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 26.2 134203 chr20 36361335 36361335 C T rs757562088 CTNNBL1 Nonsynonymous SNV R29C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.2 134204 chr2 169707383 169707383 A G rs781683392 NOSTRIN Nonsynonymous SNV K223R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.007 134205 chr20 36997697 36997697 C T rs374549700 LBP Nonsynonymous SNV P347L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 134206 chr2 219553503 219553503 T C rs73079060 STK36 Synonymous SNV D488D 0.003 0.013 0.003 0 4 5 0 1 0 0 0 0 7.167 134207 chr2 219557014 219557014 A C rs6709303 STK36 Nonsynonymous SNV Q638P 0.003 0.013 0.003 0 4 5 0 1 0 0 0 0 0.018 134208 chr2 219559018 219559018 C G rs73079072 STK36 Nonsynonymous SNV L790V 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Benign 8.63 134209 chr2 219562677 219562677 G A rs55633575 STK36 Nonsynonymous SNV V983I 0.003 0.013 0.003 0 4 5 0 1 0 0 0 0 0.001 134210 chr2 219563496 219563496 T C rs58753698 STK36 Synonymous SNV L1056L 0.003 0.013 0.003 0 4 5 0 1 0 0 0 0 0.003 134211 chr2 219563958 219563958 T G rs73079079 STK36 Nonsynonymous SNV C1210G 0.003 0.013 0.003 0 4 5 0 1 0 0 0 0 13.52 134212 chr4 5990380 5990380 G T rs6845622 C4orf50 Nonsynonymous SNV D952E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.38 134213 chr4 5991382 5991382 G A rs150508581 C4orf50 Synonymous SNV N618N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.256 134214 chr4 5991548 5991548 C T rs140430985 C4orf50 Nonsynonymous SNV C563Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.04 134215 chr4 6055825 6055825 G A rs61747882 JAKMIP1 Synonymous SNV D421D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 2.349 134216 chr21 43557671 43557671 G T rs777098588 UMODL1 Nonsynonymous SNV G1356W 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 134217 chr2 179482089 179482089 C T rs72677237 TTN Nonsynonymous SNV R6843H 0.009 0.005 0.01 2 10 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 134218 chr2 135965340 135965340 A G ZRANB3 Synonymous SNV T889T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.009 134219 chr2 210843356 210843356 C A rs961943990 UNC80 Synonymous SNV V2948V 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 17.45 134220 chr2 179749720 179749720 G C rs199718873 CCDC141 Nonsynonymous SNV L543V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.9 134221 chr21 46925149 46925149 - GGCCCCCCC rs762697655 COL18A1 P1173_S1174insGPP 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 134222 chr2 218682757 218682757 G A rs140104262 TNS1 Nonsynonymous SNV P1308L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 134223 chr20 54824476 54824476 A G rs760081883 MC3R Nonsynonymous SNV I193V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.024 134224 chr21 47552175 47552175 C T rs140419176 COL6A2 Synonymous SNV H923H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.615 134225 chr2 15542296 15542296 A G rs75566418 NBAS Nonsynonymous SNV Y1023H 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.28 134226 chr2 232325446 232325446 C T rs773935750 NCL Nonsynonymous SNV D249N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 21.7 134227 chr2 219556959 219556959 T A STK36 Nonsynonymous SNV L620M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 134228 chr4 79831772 79831772 G A rs182929460 BMP2K Nonsynonymous SNV E691K 0.001 0 0.014 0 1 0 0 4 0 0 0 0 23.7 134229 chr22 17586777 17586777 G A rs143239201 IL17RA Synonymous SNV T326T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.721 134230 chr2 207009731 207009731 C T rs746289681 NDUFS1 Nonsynonymous SNV V142I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.6 134231 chr2 207424800 207424800 G A rs373023541 ADAM23 Nonsynonymous SNV R376Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 35 134232 chr3 42781257 42781257 G A CCDC13 Synonymous SNV L345L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 7.38 134233 chr2 197521497 197521497 G A rs764698955 CCDC150 Nonsynonymous SNV R106H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.68 134234 chr3 447327 447327 G C rs771416258 CHL1 Nonsynonymous SNV G1150A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.12 134235 chr2 238475706 238475706 G C rs748695228 PRLH Nonsynonymous SNV G51A 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 26 134236 chr2 223436659 223436659 G A rs141929079 FARSB Synonymous SNV D567D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.93 134237 chr2 227973577 227973577 G A rs773533313 COL4A4 Nonsynonymous SNV P222L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 134238 chr4 99397378 99397378 T A TSPAN5 Nonsynonymous SNV I235F 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 134239 chr2 206610571 206610571 G A rs147946484 NRP2 Synonymous SNV A581A 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 10.56 134240 chr4 995507 995507 C T rs376012666 IDUA Synonymous SNV R78R 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.962 134241 chr2 228124582 228124582 G A rs748026747 COL4A3 Nonsynonymous SNV R368H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 134242 chr2 176982056 176982056 G A HOXD10 Synonymous SNV E165E 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.927 134243 chr2 219529924 219529924 T G rs112523387 RNF25 Nonsynonymous SNV Y207S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 24.2 134244 chr2 219736532 219736532 G A rs143354443 WNT6 Synonymous SNV A209A 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 15.6 134245 chr2 182780784 182780784 C G rs147488067 ITPRID2 Nonsynonymous SNV S653C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.31 134246 chr2 17942759 17942759 A G GEN1 Nonsynonymous SNV I86M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.003 134247 chr22 26168448 26168448 C T rs190314042 MYO18B Nonsynonymous SNV R614W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 134248 chr2 233410423 233410423 C T rs754319350 CHRNG Synonymous SNV D517D 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 2.553 134249 chr12 93195435 93195435 T A rs73362428 EEA1 Nonsynonymous SNV M905L 0.005 0.005 0 7 6 2 0.018 0 0 0 0 0 0.237 134250 chr5 121515395 121515395 C A rs867182082 LOC100505841 Nonsynonymous SNV P62T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.74 134251 chr12 96660883 96660883 C A rs142850366 ELK3 Nonsynonymous SNV H59Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 22.9 134252 chr2 215823762 215823762 G A rs6740406 ABCA12 Synonymous SNV D1657D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.389 134253 chr2 25372574 25372574 C T rs189511251 EFR3B Synonymous SNV A683A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 20.4 134254 chr2 220498062 220498062 G A rs144770147 SLC4A3 Synonymous SNV S475S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.14 134255 chr20 9496754 9496754 T C LAMP5 Synonymous SNV Y115Y 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 0.002 134256 chr2 215884068 215884068 T C rs16853149 ABCA12 Nonsynonymous SNV E232G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.046 134257 chr2 215910574 215910574 G C rs11891778 ABCA12 Nonsynonymous SNV R287G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 23.5 134258 chr2 215910612 215910612 T C rs11890468 ABCA12 Nonsynonymous SNV Q274R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 16.05 134259 chr12 100729646 100729646 G A rs56237749 SCYL2 Nonsynonymous SNV E663K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.44 134260 chr2 215914446 215914446 C G rs16853238 ABCA12 Nonsynonymous SNV W199C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 24.9 134261 chr2 215914491 215914491 T C rs34273324 ABCA12 Synonymous SNV L184L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 1.764 134262 chr2 179839809 179839809 A C CCDC141 Synonymous SNV L167L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 3.465 134263 chr5 133481460 133481460 T C rs375598690 TCF7 Synonymous SNV D253D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.129 134264 chr22 32019759 32019759 G A rs751538096 PISD Nonsynonymous SNV R57C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 134265 chr22 32831721 32831721 C T rs11702903 BPIFC Synonymous SNV G298G 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 15.03 134266 chr2 27681665 27681665 C T rs704793 IFT172 Nonsynonymous SNV R953H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 22.6 134267 chr5 1363837 1363837 C T rs758154248 LINC01511 0 0 0.003 0 0 0 0 1 0 0 0 0 5.24 134268 chr2 219505465 219505465 G A rs72962069 ZNF142 Nonsynonymous SNV R1506W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 35 134269 chr5 137802570 137802570 C T EGR1 Synonymous SNV N144N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.44 134270 chr2 239237612 239237612 C T TRAF3IP1 Stop gain R182X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 134271 chr2 219553423 219553423 C G rs45586733 STK36 Nonsynonymous SNV L462V 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 25.5 134272 chr22 37458571 37458571 C T rs142739650 KCTD17 Stop gain Q214X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.16 134273 chr22 37602994 37602994 G A rs771241121 SSTR3 Synonymous SNV C283C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.484 134274 chr5 13914751 13914751 C T rs144575803 DNAH5 Nonsynonymous SNV V400M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 134275 chr21 37518590 37518590 C G rs148150797 CBR3 Nonsynonymous SNV S205W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 32 134276 chr22 38307985 38307985 A G rs771702386 MICALL1 Nonsynonymous SNV N58S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 134277 chr2 31606648 31606648 G C rs138674014 XDH Nonsynonymous SNV L287V 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 Uncertain significance 24.2 134278 chr3 58410592 58410592 A G PXK Nonsynonymous SNV S390G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.37 134279 chr2 32756519 32756519 C T rs143909151 BIRC6 Synonymous SNV T4064T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.34 134280 chr5 141019534 141019534 G A rs368350946 RELL2 Nonsynonymous SNV R184H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 134281 chr2 33500039 33500039 T C rs75654346 LTBP1 Synonymous SNV D591D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 4.723 134282 chr3 58855971 58855971 G A rs77036152 C3orf67 Synonymous SNV I205I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 14.52 134283 chr22 40415898 40415898 G A rs148160604 FAM83F Nonsynonymous SNV R222H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 134284 chr22 42264796 42264796 G A rs146478432 SREBF2 Synonymous SNV P240P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 134285 chr2 192550423 192550423 A G rs200581859 NABP1 Nonsynonymous SNV T182A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.002 134286 chr2 25991617 25991617 T G rs201843766 ASXL2 Nonsynonymous SNV K151Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 134287 chr22 42422785 42422785 C G rs767830969 WBP2NL Nonsynonymous SNV A177G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.515 134288 chr5 145638041 145638041 C T rs200965300 RBM27 Nonsynonymous SNV P542S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 134289 chr22 42486701 42486701 G A rs144066165 NDUFA6 Synonymous SNV F16F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.62 134290 chr2 222307677 222307677 C T EPHA4 Nonsynonymous SNV C598Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.512 134291 chr2 23985181 23985181 T C rs370864435 ATAD2B Nonsynonymous SNV S1093G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.35 134292 chr21 43546550 43546550 C T rs533438623 UMODL1 Synonymous SNV C1137C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.35 134293 chr2 201436429 201436449 AATGAACAGCTGGCTCAGATG - rs779021867 SGO2 M460_Q466del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 134294 chr2 201846372 201846372 C T rs770934487 FAM126B Nonsynonymous SNV R405H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.9 134295 chr2 48873964 48873964 C T GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV S220F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.2 134296 chr2 27601423 27601423 G A rs149593174 ZNF513 Nonsynonymous SNV P175L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.5 134297 chr2 202492840 202492840 C T rs745540263 TMEM237 Nonsynonymous SNV R301Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 28.7 134298 chr2 219507670 219507670 C T rs201360593 ZNF142 Nonsynonymous SNV R1190Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 134299 chr2 54150479 54150479 G A rs139098624 PSME4 Synonymous SNV D629D 0.004 0 0 0 5 0 0 0 0 0 0 0 11.56 134300 chr5 150028708 150028708 C T rs746113929 SYNPO Nonsynonymous SNV R291C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 134301 chr22 45683071 45683071 C A rs202189234 UPK3A Stop gain S76X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 134302 chr2 230253102 230253102 G A rs376723054 DNER Synonymous SNV C578C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.123 134303 chr2 54895682 54895682 C T rs2229505 SPTBN1 Synonymous SNV F2357F 0.012 0 0.014 5 14 0 0.013 4 0 0 0 0 8.997 134304 chr2 204306014 204306014 G A rs202111057 RAPH1 Synonymous SNV P633P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.413 134305 chr2 55461301 55461301 G A rs140629236 RPS27A Synonymous SNV L50L 0.009 0.008 0.007 0 10 3 0 2 0 0 0 0 10.37 134306 chr22 46627781 46627781 G A rs149694585 PPARA Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 134307 chr12 128900108 128900108 T G TMEM132C Nonsynonymous SNV V306G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.1 134308 chr12 128900111 128900111 T G TMEM132C Nonsynonymous SNV V307G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 134309 chr21 46642097 46642097 C T rs9983291 ADARB1 Synonymous SNV F697F 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 15.44 134310 chr2 27440777 27440777 G A CAD Nonsynonymous SNV A39T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 31 134311 chr21 47545997 47545997 C T COL6A2 Synonymous SNV A756A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.36 134312 chr22 50703825 50703825 G A rs199590131 MAPK11 Nonsynonymous SNV P314S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 134313 chr5 156566403 156566403 G C MED7 Nonsynonymous SNV P14A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 134314 chr2 28066080 28066080 A G rs745965464 RBKS Nonsynonymous SNV I123T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.1 134315 chr12 133779696 133779696 T C rs375342422 ZNF268 Nonsynonymous SNV I475T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 6.191 134316 chr2 73302829 73302829 C T rs374988807 RAB11FIP5 Synonymous SNV S594S 0.005 0 0 0 6 0 0 0 0 0 0 0 17.06 134317 chr13 21955673 21955673 T C rs141502095 ZDHHC20 Synonymous SNV Q257Q 0.005 0.003 0.007 6 6 1 0.015 2 0 0 0 0 0.127 134318 chr2 216982485 216982485 C T rs148308539 XRCC5 Synonymous SNV I112I 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 18.38 134319 chr2 73679495 73679495 C T ALMS1 Synonymous SNV P1946P 0.005 0 0 0 6 0 0 0 0 0 0 0 6.49 134320 chr4 114072241 114072241 A G ANK2 Synonymous SNV T30T 0.006 0 0 1 7 0 0.003 0 1 0 0 0 7.71 134321 chr5 167933095 167933095 T A rs146939849 RARS1 Nonsynonymous SNV V376E 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 26.4 134322 chr2 219562308 219562308 A G rs565742342 STK36 Nonsynonymous SNV S941G 0.003 0.013 0 0 4 5 0 0 0 0 0 0 16.02 134323 chr5 173036437 173036437 - TGAA rs766153311 BOD1 Frameshift insertion Q121Hfs*23 0.001 0 0.003 0 1 0 0 1 0 0 0 0 134324 chr5 173036438 173036438 - CACACTCTGCCTCAAACCATTTCGCAATTGGTTTTTGTTCA rs776384091 BOD1 0 0 0.003 0 0 0 0 1 0 0 0 0 134325 chr2 85097862 85097862 T A TRABD2A Synonymous SNV P52P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.098 134326 chr2 220089557 220089557 G A rs576470331 ATG9A Nonsynonymous SNV T179M 0.003 0.01 0 0 3 4 0 0 0 0 0 0 27.5 134327 chr2 110065746 110065746 C T rs776110511 SH3RF3 Nonsynonymous SNV P650L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 134328 chr2 220379110 220379110 G A rs115764695 ASIC4 Synonymous SNV A15A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.93 134329 chr2 112813237 112813237 C T TMEM87B Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 134330 chr2 65298997 65298997 G C CEP68 Nonsynonymous SNV G256A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.762 134331 chr2 97355026 97355026 T C rs61732269 FER1L5 Nonsynonymous SNV M813T 0.009 0.026 0.017 10 11 10 0.026 5 0 0 0 0 15.24 134332 chr13 37393518 37393518 G A rs540467033 RFXAP Synonymous SNV E8E 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 7.598 134333 chr3 100096696 100096696 A G rs79032648 TOMM70 Synonymous SNV S315S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 8.378 134334 chr3 100287704 100287704 A G rs6806901 TMEM45A Synonymous SNV A209A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 4.341 134335 chr5 179467553 179467553 C T rs61754470 RNF130 Synonymous SNV T114T 0.003 0.018 0.007 4 4 7 0.01 2 0 0 0 0 13.88 134336 chr22 24109588 24109588 C T rs111527940 CHCHD10 Synonymous SNV S78S 0.012 0.008 0 4 14 3 0.01 0 0 0 0 1 Benign 18.33 134337 chr5 1798880 1798880 A C rs775956445 MRPL36 Nonsynonymous SNV L57R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 134338 chr5 180219848 180219848 C T rs767833331 MGAT1 Nonsynonymous SNV A42T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.27 134339 chr2 71221879 71221879 G A rs147546717 TEX261 Synonymous SNV F3F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.85 134340 chr2 26410106 26410106 T G GAREM2 Synonymous SNV G458G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.142 134341 chr2 239184431 239184431 G A rs148637086 PER2 Nonsynonymous SNV T134M 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 22.9 134342 chr3 108308190 108308190 G A rs62638698 CIP2A Synonymous SNV L11L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.604 134343 chr5 31526653 31526653 G A DROSHA Synonymous SNV N129N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.162 134344 chr2 27259592 27259592 G A rs148372172 TMEM214 Synonymous SNV L237L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 1 11.45 134345 chr2 241826499 241826499 G A rs199859427 MAB21L4 Synonymous SNV G444G 0 0 0 2 0 0 0.005 0 0 0 0 0 11 134346 chr2 28796151 28796151 C A PLB1 Nonsynonymous SNV A482D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 134347 chr2 234344540 234344540 C T rs199790481 DGKD Synonymous SNV I177I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 134348 chr5 38337670 38337670 C T rs145406817 EGFLAM Nonsynonymous SNV T49M 0 0 0.007 0 0 0 0 2 0 0 0 0 34 134349 chr4 157688928 157688928 G A rs546776439 PDGFC Synonymous SNV H306H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.359 134350 chr4 159606337 159606337 G A rs147219158 ETFDH Nonsynonymous SNV G130D 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 134351 chr2 86357794 86357794 T C rs374510370 PTCD3 Nonsynonymous SNV F391L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.293 134352 chr4 164394262 164394262 C T rs28742006 TKTL2 Nonsynonymous SNV A209T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 134353 chr2 8931235 8931235 C A KIDINS220 Nonsynonymous SNV A467S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 134354 chr2 144704689 144704689 G A rs140940814 GTDC1 Nonsynonymous SNV P307L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 18.44 134355 chr2 84896601 84896601 C T rs780711235 DNAH6 Synonymous SNV S2091S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 134356 chr4 166414386 166414386 A G rs144687736 CPE Nonsynonymous SNV I393V 0.003 0.003 0.01 3 4 1 0.008 3 0 0 0 0 17.54 134357 chr13 76427473 76427473 C T rs768434509 LMO7 Nonsynonymous SNV P1210L 0 0 0 3 0 0 0.008 0 0 0 0 0 22.8 134358 chr2 158115922 158115922 G A rs150434278 GALNT5 Nonsynonymous SNV R443H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.52 134359 chr2 158182001 158182001 C T rs75473205 ERMN Nonsynonymous SNV A52T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.072 134360 chr2 88327464 88327464 C T rs116606730 KRCC1 Nonsynonymous SNV V207I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.435 134361 chr2 158272507 158272507 C T rs34955674 CYTIP Synonymous SNV T254T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.945 134362 chr22 38051667 38051667 G T rs768036076 SH3BP1 Nonsynonymous SNV R694S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 134363 chr2 88991244 88991244 C T RPIA Nonsynonymous SNV L10F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 134364 chr5 56778225 56778225 T C rs147643155 ACTBL2 Nonsynonymous SNV I104V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 134365 chr2 241873198 241873198 C A rs941002446 CROCC2 Synonymous SNV L525L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.84 134366 chr2 97334486 97334486 A T FER1L5 0 0.005 0 0 0 2 0 0 0 0 0 0 22.3 134367 chr5 65084101 65084101 A G rs6863012 NLN Nonsynonymous SNV K372R 0.006 0.016 0.014 2 7 6 0.005 4 0 0 1 0 15.67 134368 chr2 32640021 32640021 A G rs142383253 BIRC6 Synonymous SNV E554E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.136 134369 chr2 166764284 166764284 C T rs114725374 TTC21B Synonymous SNV L824L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.07 134370 chr3 100091535 100091535 G A rs374048296 TOMM70 Nonsynonymous SNV S456L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.8 134371 chr2 242695399 242695399 G A rs146578303 D2HGDH Nonsynonymous SNV A292T 0.002 0 0.003 5 2 0 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 134372 chr2 64160864 64160864 G C rs34015596 VPS54 Nonsynonymous SNV S549C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.8 134373 chr3 125735629 125735629 C T rs139399598 SLC41A3 Nonsynonymous SNV V243M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.002 134374 chr13 113978848 113978848 G C rs373022293 GRTP1 Nonsynonymous SNV Q203E 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 1.263 134375 chr2 26999332 26999332 C T rs748225135 SLC35F6 Nonsynonymous SNV R210W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.1 134376 chr2 27305117 27305117 C G EMILIN1 Nonsynonymous SNV D226E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 134377 chr2 27317694 27317694 G A rs200630753 KHK Nonsynonymous SNV R79Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.4 134378 chr2 178077519 178077519 G C MIR4444-1, MIR4444-2 0.002 0 0 0 2 0 0 0 1 0 0 0 16.84 134379 chr2 27423872 27423872 G A rs140378947 SLC5A6 Synonymous SNV Y586Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.198 134380 chr2 27426174 27426174 C T rs138663654 SLC5A6 Synonymous SNV T378T 0.004 0.01 0 1 5 4 0.003 0 1 0 0 0 17.66 134381 chr3 112724713 112724713 C T rs116476089 NEPRO Synonymous SNV Q291Q 0.005 0.01 0.024 2 6 4 0.005 7 0 0 0 0 14.92 134382 chr2 73677858 73677858 A G rs199649563 ALMS1 Nonsynonymous SNV T1401A 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Uncertain significance 5.184 134383 chr5 79034421 79034421 C T CMYA5 Nonsynonymous SNV A3278V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 134384 chr4 3214304 3214304 G T rs372618829 HTT Synonymous SNV L2214L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.865 134385 chr5 79734426 79734426 G A ZFYVE16 Nonsynonymous SNV S641N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.885 134386 chr3 132418796 132418796 A G rs139730838 NPHP3 Nonsynonymous SNV I618T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 134387 chr2 75917195 75917197 TCT - rs780533294 GCFC2 R244del 0.003 0 0 0 4 0 0 0 0 0 0 0 134388 chr3 119379074 119379074 A G rs199823321 POPDC2 Nonsynonymous SNV L66P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 134389 chr2 31416079 31416079 C T rs756326156 CAPN14 Synonymous SNV A344A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.25 134390 chr2 96689176 96689176 G A rs200494170 GPAT2 Nonsynonymous SNV R572W 0.003 0 0.007 0 3 0 0 2 0 0 0 0 27.6 134391 chr5 94903650 94903650 C G rs368795148 ARSK Nonsynonymous SNV L105V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 134392 chr4 40947090 40947090 G A rs199964463 APBB2 Nonsynonymous SNV A279V 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 15.2 134393 chr4 40947091 40947091 C A rs200028969 APBB2 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 23.6 134394 chr5 9629723 9629723 C T rs2234232 TAS2R1 Nonsynonymous SNV C141Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.18 134395 chr3 10417250 10417250 G A rs149899981 ATP2B2 Nonsynonymous SNV P382L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 134396 chr2 18741692 18741692 G A RDH14 Synonymous SNV T49T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.94 134397 chr3 108572547 108572547 T C rs370112824 TRAT1 Synonymous SNV N91N 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.049 134398 chr6 109886000 109886000 C T rs1011328920 AK9 Nonsynonymous SNV G798E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 134399 chr2 108921708 108921708 G A rs149186457 SULT1C2 Nonsynonymous SNV E195K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 134400 chr6 111912565 111912565 T C TRAF3IP2 Nonsynonymous SNV Q242R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 134401 chr3 160143939 160143939 C T rs202139466 SMC4 Synonymous SNV D852D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.51 134402 chr2 201523933 201523933 C T rs775339736 AOX1 Nonsynonymous SNV R1073C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 134403 chr2 202509944 202509944 C T rs770495309 MPP4 Nonsynonymous SNV E635K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 134404 chr4 69107515 69107515 T C rs374100420 TMPRSS11B Nonsynonymous SNV I6V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.003 134405 chr14 45696937 45696937 T C rs78638207 MIS18BP1 Nonsynonymous SNV T559A 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 0.026 134406 chr3 179526204 179526204 C T rs139246095 PEX5L Synonymous SNV K266K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.02 134407 chr3 132338334 132338334 G C rs148899232 ACAD11 Nonsynonymous SNV P418R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.3 134408 chr3 183669759 183669759 C T rs28365026 ABCC5 Synonymous SNV S428S 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 14.2 134409 chr4 73149299 73149299 G A rs775694332 ADAMTS3 Nonsynonymous SNV P1058S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.59 134410 chr4 73149300 73149300 C A rs762975880 ADAMTS3 Synonymous SNV L1057L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.3 134411 chr3 140284913 140284913 C T rs151107249 CLSTN2 Nonsynonymous SNV H896Y 0.006 0.018 0.003 0 7 7 0 1 1 0 0 0 0.516 134412 chr6 131190760 131190760 G A rs141483573 EPB41L2 Synonymous SNV N378N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.712 134413 chr4 74316377 74316377 G A rs1894264 AFP Synonymous SNV S445S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.733 134414 chr4 74347532 74347532 T G rs145217978 AFM Nonsynonymous SNV F14V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.48 134415 chr6 132068060 132068060 A G rs145544747 ENPP3 Synonymous SNV L864L 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 3.186 134416 chr6 134583262 134583262 T C rs147657480 SGK1 Nonsynonymous SNV M32V 0.008 0.008 0.014 1 9 3 0.003 4 0 0 0 0 3.653 134417 chr3 138474625 138474625 T A PIK3CB Nonsynonymous SNV D123V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 134418 chr6 135787184 135787184 C T rs146416468 AHI1 Nonsynonymous SNV A173T 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 Benign/Likely benign 1.779 134419 chr6 136667141 136667141 A G rs147492356 MAP7 Synonymous SNV L604L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.865 134420 chr3 122634713 122634713 C T rs9812408 SEMA5B Synonymous SNV P513P 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 20.1 134421 chr2 135744418 135744418 C T rs141304858 MAP3K19 Nonsynonymous SNV R562Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 26.1 134422 chr2 21234050 21234050 C T rs199510126 APOB Nonsynonymous SNV R1897H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.742 134423 chr6 137245324 137245324 C G rs13437457 SLC35D3 Synonymous SNV T247T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.361 134424 chr3 122825664 122825664 T G rs188545035 PDIA5 Nonsynonymous SNV D152E 0.006 0 0 0 7 0 0 0 0 0 0 0 26.4 134425 chr2 135763038 135763038 C T MAP3K19 Nonsynonymous SNV G68S 0.003 0 0 0 3 0 0 0 0 0 0 0 19.52 134426 chr2 21238367 21238367 C T rs12713843 APOB Nonsynonymous SNV R1128H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 134427 chr3 123135052 123135052 T C ADCY5 Synonymous SNV G21G 0.005 0 0 0 6 0 0 0 0 0 0 0 2.904 134428 chr2 71595526 71595526 G A rs140509385 ZNF638 Synonymous SNV Q670Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.012 134429 chr4 77996691 77996691 G A CCNI Synonymous SNV T2T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.856 134430 chr6 138817509 138817509 C A rs199977393 NHSL1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.4 134431 chr2 73678293 73678293 G A ALMS1 Nonsynonymous SNV A1546T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 134432 chr3 148563338 148563338 A - CPB1 I303Sfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 134433 chr2 216974171 216974171 G C rs746374866 XRCC5 Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 134434 chr2 149226880 149226880 G T rs146020786 MBD5 Synonymous SNV S456S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 3.546 134435 chr2 74903023 74903023 G A rs766440260 SEMA4F Nonsynonymous SNV G389R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 134436 chr3 156261042 156261042 T C rs757676113 SSR3 Nonsynonymous SNV I183V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.5 134437 chr6 149720260 149720260 G A rs775340413 TAB2 Nonsynonymous SNV A627T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 134438 chr6 150067151 150067151 G C rs762071168 NUP43 Nonsynonymous SNV D56E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.169 134439 chr2 85846373 85846373 G A rs151043919 USP39 Nonsynonymous SNV R100Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 134440 chr6 152697692 152697692 G C rs117360770 SYNE1 Nonsynonymous SNV L3057V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 134441 chr2 95815879 95815879 G A rs115796112 ZNF514 Synonymous SNV C190C 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 2.656 134442 chr3 179616075 179616075 C A rs139206549 PEX5L-AS2 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 13.37 134443 chr4 95496831 95496831 C G rs116676966 PDLIM5 Nonsynonymous SNV S119C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.85 134444 chr2 166535936 166535936 C T rs755356867 CSRNP3 Synonymous SNV F477F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.445 134445 chr2 97400216 97400216 A G rs767723222 LMAN2L Star tloss M1? 0.004 0 0 0 5 0 0 0 0 0 0 0 3.763 134446 chr4 96222800 96222800 G T rs77028450 UNC5C Synonymous SNV S149S 0.002 0 0 0 2 0 0 0 0 0 0 0 12 134447 chr4 99325660 99325660 A G rs1017278838 RAP1GDS1 Nonsynonymous SNV I133V 0.01 0.016 0 1 12 6 0.003 0 0 0 0 0 3.833 134448 chr2 228195518 228195518 A G MFF Nonsynonymous SNV N46S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.876 134449 chr6 160514184 160514184 G A rs574939095 LOC729603 0 0 0.003 0 0 0 0 1 0 0 0 0 1.71 134450 chr2 230723767 230723767 C T rs539119124 TRIP12 Nonsynonymous SNV A208T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 134451 chr6 160921969 160921969 G A rs41267805 LPAL2 0 0 0.027 0 0 0 0 8 0 0 1 0 1.486 134452 chr5 109961039 109961039 C G TMEM232 Nonsynonymous SNV E233Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.9 134453 chr3 182740282 182740282 G T rs138480247 MCCC1 Nonsynonymous SNV L481M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 134454 chr6 16141919 16141919 G A rs139469255 MYLIP Synonymous SNV E114E 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 11.94 134455 chr3 183493716 183493716 C T YEATS2 Synonymous SNV G794G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 134456 chr6 166571819 166571819 G A rs372990504 TBXT Nonsynonymous SNV S373L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 134457 chr2 232326323 232326323 C T NCL Nonsynonymous SNV A181T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 134458 chr3 183777991 183777991 G A rs755789903 HTR3C Nonsynonymous SNV E399K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.546 134459 chr3 13916474 13916474 G A rs751362548 WNT7A Nonsynonymous SNV R90C 0.003 0 0 0 3 0 0 0 0 0 0 0 32 134460 chr3 183853307 183853307 C G rs199637444 EIF2B5 Nonsynonymous SNV A45G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 134461 chr6 168461634 168461634 G T rs113624371 FRMD1 Nonsynonymous SNV H315Q 0.006 0.008 0.01 2 7 3 0.005 3 0 0 0 0 Benign 0.554 134462 chr3 184045235 184045235 C T rs143852330 EIF4G1 Synonymous SNV A1025A 0 0.005 0 0 0 2 0 0 0 0 0 0 12.98 134463 chr14 91121338 91121338 G A rs189320687 TTC7B Synonymous SNV D486D 0 0 0 4 0 0 0.01 0 0 0 0 0 11.05 134464 chr3 1424664 1424664 A T rs147708438 CNTN6 Synonymous SNV G631G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 1.077 134465 chr3 184644408 184644408 C T rs375545410 VPS8 Synonymous SNV D854D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.59 134466 chr2 179435121 179435121 T C rs371344165 TTN Synonymous SNV E16181E 0.003 0 0 5 3 0 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.942 134467 chr3 184911257 184911257 C T rs758906264 EHHADH Nonsynonymous SNV R214Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 134468 chr3 186276252 186276252 T C rs7619912 TBCCD1 Nonsynonymous SNV K53R 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 5.883 134469 chr3 186364069 186364069 C T rs73886004 FETUB Synonymous SNV Y144Y 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 10.36 134470 chr3 186392939 186392939 C T rs111439697 HRG Nonsynonymous SNV P234L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 26.1 134471 chr3 186394943 186394943 T C rs112861431 HRG Synonymous SNV S283S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.48 134472 chr2 234847809 234847809 G T rs138993210 TRPM8 Synonymous SNV A172A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.47 134473 chr3 186394948 186394950 ATC - rs112594124 HRG H288del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 134474 chr3 186395056 186395056 C T rs113195010 HRG Nonsynonymous SNV P321L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 23.5 134475 chr3 186760982 186760982 A C rs144486229 ST6GAL1 Nonsynonymous SNV E164A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.867 134476 chr14 94401050 94401050 C T rs370537668 ASB2 Synonymous SNV P572P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 17.3 134477 chr5 131052268 131052268 A C rs201415165 FNIP1 Synonymous SNV L159L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.762 134478 chr6 25113931 25113931 G A rs45568536 CMAHP 0 0 0.051 0 0 0 0 15 0 0 1 0 17.16 134479 chr3 119188756 119188756 G T rs200523009 POGLUT1 Nonsynonymous SNV G59C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 134480 chr3 190030679 190030679 C T rs140846629 CLDN1 Nonsynonymous SNV A124T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 23.9 134481 chr3 196666214 196666214 G A rs62636582 NCBP2 Synonymous SNV I38I 0.01 0.01 0.01 5 12 4 0.013 3 0 0 0 0 13.71 134482 chr6 26056591 26056591 C T rs759536174 HIST1H1C Synonymous SNV K22K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.299 134483 chr3 196674919 196674919 G A rs553144653 PIGZ Synonymous SNV P283P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.591 134484 chr6 26216847 26216847 G A rs149681157 H2BC8 Nonsynonymous SNV P9S 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 19.11 134485 chr3 46062800 46062800 G A rs768217698 XCR1 Nonsynonymous SNV R214C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 134486 chr14 94964709 94964709 A G rs752881385 SERPINA12 Nonsynonymous SNV I9T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 17.59 134487 chr3 15749436 15749436 A G rs140048961 ANKRD28 Synonymous SNV D330D 0.006 0 0.01 2 7 0 0.005 3 0 0 0 0 0.156 134488 chr3 194062872 194062872 T C CPN2 Nonsynonymous SNV E187G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.092 134489 chr14 95912420 95912420 C G rs762694667 SYNE3 Synonymous SNV L486L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.696 134490 chr3 27436565 27436565 T C rs918973127 SLC4A7 Synonymous SNV G787G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.907 134491 chr3 121712437 121712437 A G rs150250182 ILDR1 Nonsynonymous SNV S298P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.363 134492 chr6 28200582 28200582 C T rs748002222 ZSCAN9 Stop gain R271X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 134493 chr3 122811250 122811250 C T rs61996316 PDIA5 Nonsynonymous SNV A73V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 19.57 134494 chr2 18745234 18745234 C T rs147855687 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV R494H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.9 134495 chr3 122944064 122944064 C T rs768031568 SEC22A Nonsynonymous SNV S154F 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 134496 chr3 123166575 123166575 A G rs141412542 ADCY5 Nonsynonymous SNV V273A 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 14.98 134497 chr14 101347825 101347825 C G rs137942742 RTL1 Nonsynonymous SNV V1101L 0.003 0 0 5 3 0 0.013 0 0 0 0 0 Benign 3.395 134498 chr3 19574957 19574957 A C rs35430375 KCNH8 Nonsynonymous SNV N897T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.008 134499 chr6 34838841 34838841 C T rs200662691 UHRF1BP1 Nonsynonymous SNV P1310L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 134500 chr3 49753577 49753577 C G RNF123 Nonsynonymous SNV L1128V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.82 134501 chr3 171379919 171379919 G A rs748315672 PLD1 Synonymous SNV Y719Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.711 134502 chr6 35427135 35427135 C T rs371020401 FANCE Nonsynonymous SNV R381C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 134503 chr2 191301245 191301245 C T rs116097269 MFSD6 Nonsynonymous SNV R164C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.92 134504 chr3 40529714 40529714 T C ZNF619 Synonymous SNV P527P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 134505 chr2 197297941 197297941 C T rs80093741 HECW2 Synonymous SNV T69T 0.009 0.008 0.014 5 10 3 0.013 4 0 0 0 0 Benign 17.53 134506 chr3 183017837 183017837 C T rs144274760 MCF2L2 Nonsynonymous SNV D421N 0.004 0 0 0 5 0 0 0 0 0 0 0 15.05 134507 chr2 27121394 27121394 G A rs79644076 DPYSL5 Synonymous SNV R9R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.4 134508 chr3 52731900 52731900 G T rs114173039 GLT8D1 Synonymous SNV R56R 0.003 0 0 0 3 0 0 0 0 0 0 0 4.541 134509 chr5 140307155 140307155 A G rs568227710 PCDHAC1 Synonymous SNV T226T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.197 134510 chr3 52740272 52740272 C T rs142762908 SPCS1 Nonsynonymous SNV H4Y 0.003 0 0 0 3 0 0 0 0 0 0 0 15.96 134511 chr2 27360773 27360773 G A rs61741796 PRR30 Nonsynonymous SNV P142L 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 0.006 134512 chr5 140730489 140730489 G A rs199977912 PCDHGB1 Nonsynonymous SNV G221D 0.006 0 0 0 7 0 0 0 0 0 0 0 25.3 134513 chr3 159943457 159943457 C T rs868273464 C3orf80 Nonsynonymous SNV S12L 0.007 0 0 3 8 0 0.008 0 0 0 0 0 23.4 134514 chr3 130159656 130159656 A G rs748869243 COL6A5 Synonymous SNV L2158L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.286 134515 chr3 60522686 60522686 T C rs750839499 FHIT Nonsynonymous SNV R4G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.63 134516 chr2 32727918 32727918 A G BIRC6 Synonymous SNV V3088V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 134517 chr3 47205390 47205390 G T SETD2 Nonsynonymous SNV P9T 0.004 0 0 0 5 0 0 0 0 0 0 0 10.71 134518 chr3 137893587 137893587 A G rs766303216 DBR1 Synonymous SNV Y17Y 0.003 0 0 4 3 0 0.01 0 0 0 0 0 1.094 134519 chr5 149006727 149006727 G T rs78819112 ARHGEF37 Nonsynonymous SNV S518I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.48 134520 chr6 46682223 46682225 AAC - rs749628283 PLA2G7 V148del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 134521 chr3 195516065 195516065 G A MUC4 Stop gain R796X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 134522 chr5 149219653 149219653 G A rs150637009 PPARGC1B Nonsynonymous SNV A851T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 19.13 134523 chr3 45152245 45152245 C T rs115745263 CDCP1 Synonymous SNV E248E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.72 134524 chr3 49750971 49750971 G C rs375193155 RNF123 Synonymous SNV L900L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.231 134525 chr3 49756123 49756123 - A AMIGO3 Frameshift insertion S259Ffs*13 0.002 0 0 0 2 0 0 0 0 0 0 0 134526 chr6 53518921 53518921 G A rs1030477952 KLHL31 Nonsynonymous SNV H384Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 134527 chr2 219878672 219878672 G T rs200780146 CFAP65 Nonsynonymous SNV Q1233K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.1 134528 chr3 151164769 151164769 A G rs138531783 IGSF10 Synonymous SNV S1000S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.83 134529 chr2 61244926 61244926 C T rs564528921 PEX13 Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.7 134530 chr2 220083316 220083316 A C rs763255664 ABCB6 Nonsynonymous SNV F27C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.13 134531 chr4 103556064 103556064 G A rs147428514 MANBA Nonsynonymous SNV R766W 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 Uncertain significance 26.2 134532 chr5 154278005 154278005 G C rs142217294 GEMIN5 Nonsynonymous SNV L1113V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 134533 chr3 194353889 194353889 C A rs201999197 TMEM44 Nonsynonymous SNV R19L 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 26.3 134534 chr3 195456564 195456564 C T rs115826755 MUC20 Nonsynonymous SNV P672L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.86 134535 chr4 104579530 104579530 G A rs62340657 TACR3 Synonymous SNV P193P 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.81 134536 chr3 160003656 160003656 A C rs780934693 IFT80 Nonsynonymous SNV I302R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.3 134537 chr2 220413966 220413966 C T TMEM198 Nonsynonymous SNV R279W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.2 134538 chr6 7182213 7182213 G A rs116821538 RREB1 Synonymous SNV A23A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 134539 chr6 73933500 73933500 C A rs573967311 KHDC1L Nonsynonymous SNV V120F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.153 134540 chr2 220494859 220494859 T C rs143751613 SLC4A3 Nonsynonymous SNV L226P 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 6.905 134541 chr2 223499209 223499209 G A rs143635218 FARSB Synonymous SNV G169G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.64 134542 chr3 62258665 62258665 T C PTPRG Nonsynonymous SNV M1076T 0.003 0 0 0 4 0 0 0 0 0 0 0 27.3 134543 chr3 63965781 63965781 G C rs368647643 ATXN7 Nonsynonymous SNV Q85H 0.003 0 0 0 4 0 0 0 0 0 0 0 8.693 134544 chr2 227660781 227660781 T C rs1801277 IRS1 Nonsynonymous SNV S892G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 24.4 134545 chr5 169508853 169508853 G A rs370911923 DOCK2 Synonymous SNV A1765A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.644 134546 chr3 52860831 52860831 G C ITIH4 Synonymous SNV P165P 0 0.005 0 0 0 2 0 0 0 0 0 0 7.408 134547 chr2 74682252 74682252 G T rs371385683 INO80B Nonsynonymous SNV K3N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 134548 chr2 231331885 231331885 G A rs766779368 SP100 Nonsynonymous SNV A391T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.004 134549 chr3 97608223 97608223 A G rs754730213 CRYBG3 Nonsynonymous SNV M2477V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.85 134550 chr6 90573046 90573046 A G rs374581994 CASP8AP2 Nonsynonymous SNV M540V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.068 134551 chr2 231742259 231742259 C T rs146498709 ITM2C Nonsynonymous SNV R189W 0.003 0.008 0 0 4 3 0 0 0 0 0 0 33 134552 chr6 90642327 90642327 G C rs200671083 BACH2 Nonsynonymous SNV P776A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 134553 chr3 97686350 97686350 - C rs759850891 RIOX2 Frameshift insertion P30Afs*7 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 134554 chr2 232209744 232209744 G A ARMC9 Nonsynonymous SNV G613R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.692 134555 chr7 100284666 100284666 G A rs544550676 GIGYF1 Synonymous SNV G162G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 134556 chr7 100482435 100482435 A C rs147090333 SRRT Nonsynonymous SNV E339D 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.642 134557 chr4 152571525 152571525 G T rs11940735 FAM160A1 Nonsynonymous SNV D778Y 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 16.85 134558 chr2 88424031 88424031 G A rs145654083 FABP1 Synonymous SNV N105N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 134559 chr3 45823684 45823684 A G rs376190987 SLC6A20 Synonymous SNV L51L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 1.215 134560 chr5 179105593 179105593 G C CBY3 Nonsynonymous SNV D240E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.435 134561 chr2 88484957 88484957 C T rs374796449 THNSL2 Synonymous SNV A396A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 134562 chr3 97596373 97596373 A C rs112880781 CRYBG3 Nonsynonymous SNV K2112T 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 6.11 134563 chr2 96798306 96798306 G A rs143172084 ASTL Nonsynonymous SNV R204C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 134564 chr2 96949031 96949031 G A rs770562614 SNRNP200 Nonsynonymous SNV T1608M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 134565 chr3 47046792 47046792 G A rs370981413 NBEAL2 Nonsynonymous SNV V2147I 0.005 0.005 0 0 6 2 0 0 0 0 0 0 7.006 134566 chr2 98274702 98274702 G A rs146624887 ACTR1B Synonymous SNV D245D 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 2.982 134567 chr2 234975910 234975910 G A rs764495552 SPP2 Nonsynonymous SNV R181Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.3 134568 chr15 65578662 65578662 T C PARP16 Nonsynonymous SNV K35E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24 134569 chr5 32048696 32048696 G A rs201862273 PDZD2 Nonsynonymous SNV R524Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25 134570 chr4 100239320 100239320 G A rs761042153 ADH1B Nonsynonymous SNV H48Y 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 22 134571 chr5 36226606 36226606 C T rs142251085 NADK2 Nonsynonymous SNV R150Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 22.6 134572 chr3 49967051 49967052 AG - MON1A L90Efs*11 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 134573 chr4 119689442 119689442 C T rs781619219 SEC24D Nonsynonymous SNV G357S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 134574 chr3 52018161 52018161 C G rs141824939 ABHD14A-ACY1, ACY1 Synonymous SNV P27P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 11.83 134575 chr7 100856449 100856449 C T rs780659488 PLOD3 Nonsynonymous SNV R239H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 134576 chr3 113330949 113330949 A T rs147872055 SIDT1 Nonsynonymous SNV D563V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 134577 chr5 475138 475138 G A rs769325808 SLC9A3 Synonymous SNV A778A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.692 134578 chr4 186320740 186320740 G A rs201802691 ANKRD37 Nonsynonymous SNV G97R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 34 134579 chr3 53694268 53694268 G A rs372345315 CACNA1D Synonymous SNV V244V 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 11.42 134580 chr5 52356775 52356775 G T ITGA2 Nonsynonymous SNV V453F 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 32 134581 chr3 38357082 38357082 G T rs896508148 SLC22A14 Nonsynonymous SNV C471F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.721 134582 chr5 54603861 54603861 A G rs149863310 MTREX Nonsynonymous SNV D7G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 23.5 134583 chr7 108212243 108212243 A G rs150406585 DNAJB9 Nonsynonymous SNV K25E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.05 134584 chr7 109599803 109599803 T C rs574233405 EIF3IP1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.799 134585 chr3 58135632 58135632 G A rs146271686 FLNB Synonymous SNV T2025T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 134586 chr2 25602178 25602178 G A rs201977400 DTNB Synonymous SNV A530A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.14 134587 chr4 139103532 139103532 C T rs777074826 SLC7A11 Synonymous SNV A345A 0.001 0 0 0 1 0 0 0 0 0 0 0 22 134588 chr4 128693841 128693841 A - rs558963150 SLC25A31 N269Ifs*2 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 134589 chr7 116862976 116862976 G T rs35196356 ST7 Nonsynonymous SNV R544L 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 Likely benign 10.06 134590 chr7 120782100 120782100 G A rs149665410 CPED1 Nonsynonymous SNV G654S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.485 134591 chr3 73433431 73433431 C G rs144282889 PDZRN3 Nonsynonymous SNV E460D 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 25.3 134592 chr7 122033583 122033583 A G CADPS2 Synonymous SNV L928L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.386 134593 chr3 42635935 42635935 A G rs138199530 SS18L2 Synonymous SNV R56R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 4.954 134594 chr4 148803044 148803044 T C rs769655337 ARHGAP10 Nonsynonymous SNV I332T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.55 134595 chr3 122632065 122632065 G A SEMA5B Synonymous SNV S771S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 134596 chr4 151829580 151829580 T C rs116355217 LRBA Nonsynonymous SNV M467V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19 134597 chr4 152577526 152577526 C T rs140617452 FAM160A1 Synonymous SNV N898N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 12.52 134598 chr4 144359573 144359573 G A rs757706195 GAB1 Nonsynonymous SNV D339N 0.002 0.013 0 0 2 5 0 0 0 0 0 0 24.7 134599 chr7 12662464 12662464 T C SCIN Synonymous SNV D235D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.174 134600 chr3 124462906 124462906 C T UMPS Nonsynonymous SNV A473V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 134601 chr3 9825804 9825804 G A rs371188578 TADA3 Synonymous SNV S338S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.495 134602 chr3 44763160 44763160 A G rs766349957 ZNF502 Nonsynonymous SNV H284R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.292 134603 chr4 152065392 152065392 G A rs201329549 SH3D19 Nonsynonymous SNV P431S 0 0.008 0 0 0 3 0 0 0 0 0 0 19.31 134604 chr2 29416648 29416650 CTC - rs138827116 ALK E367del 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 134605 chr3 127399204 127399204 C T rs143520906 ABTB1 Synonymous SNV D299D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.72 134606 chr3 128077201 128077201 A G rs763903728 EEFSEC Nonsynonymous SNV K529E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 134607 chr5 78919221 78919221 A G rs199881217 TENT2 Nonsynonymous SNV Y125C 0.003 0 0 0 3 0 0 0 0 0 0 0 15.49 134608 chr4 1019125 1019125 A G rs111608568 FGFRL1 Nonsynonymous SNV Y502C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 134609 chr7 134849422 134849422 C T rs145562868 TMEM140 Nonsynonymous SNV R77W 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 20.9 134610 chr4 166976261 166976261 C T TLL1 Synonymous SNV L520L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.239 134611 chr4 41748007 41748007 T G rs17884724 PHOX2B Synonymous SNV A254A 0.005 0 0.017 1 6 0 0.003 5 1 0 0 0 Benign 0.003 134612 chr3 48627962 48627962 C A rs151186709 COL7A1 Synonymous SNV T612T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 12.67 134613 chr4 108944631 108944631 T C HADH Nonsynonymous SNV V183A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.1 134614 chr4 48027327 48027327 G A rs138889509 NIPAL1 Nonsynonymous SNV A97T 0.012 0.005 0.014 2 14 2 0.005 4 0 0 0 0 23 134615 chr3 49680487 49680487 G A BSN Nonsynonymous SNV V474M 0.002 0 0 0 2 0 0 0 0 0 0 0 7.525 134616 chr4 48553549 48553549 A G rs376661403 FRYL Synonymous SNV N1494N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.142 134617 chr2 47602397 47602397 C G rs864622724 EPCAM Nonsynonymous SNV H150Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.4 134618 chr3 51429706 51429706 T C rs782481793 RBM15B Synonymous SNV A292A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.014 134619 chr4 113509075 113509075 T - rs771306774 ZGRF1 K988Nfs*16 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 134620 chr3 52281742 52281742 C T rs749867590 PPM1M Synonymous SNV G2G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 134621 chr7 142561922 142561922 G A rs8177173 EPHB6 Nonsynonymous SNV G122S 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 22.9 134622 chr3 52429418 52429418 A G rs369995851 DNAH1 Nonsynonymous SNV Y3688C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.4 134623 chr5 9629813 9629813 C T rs41469 TAS2R1 Nonsynonymous SNV R111H 0.006 0 0.003 0 7 0 0 1 1 0 0 0 7.281 134624 chr4 57397330 57397330 T C rs574498221 THEGL Nonsynonymous SNV L163P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.71 134625 chr2 55479628 55479628 C T rs369602292 MTIF2 Nonsynonymous SNV A276T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 134626 chr4 57514916 57514916 C T HOPX Synonymous SNV L64L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.98 134627 chr3 52558585 52558585 G T rs370635334 NT5DC2 Synonymous SNV R525R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.433 134628 chr7 1484597 1484597 T C rs946973880 MICALL2 Nonsynonymous SNV D370G 0 0 0.01 0 0 0 0 3 0 0 0 0 1.424 134629 chr4 6864814 6864814 A C rs200090538 KIAA0232 Nonsynonymous SNV E902A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 134630 chr2 70528060 70528060 A G rs756690119 FAM136A Nonsynonymous SNV M154T 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 17.79 134631 chr6 111498488 111498488 T C rs150478295 SLC16A10 Synonymous SNV L188L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Benign 0.198 134632 chr3 57314449 57314449 G A rs375356642 ASB14 Synonymous SNV A256A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.021 134633 chr4 141327202 141327202 C G rs143759343 CLGN Nonsynonymous SNV V105L 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 0.104 134634 chr3 58109348 58109348 C T rs763607287 FLNB Nonsynonymous SNV R1219W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 134635 chr3 151112547 151112547 T G rs151012898 MED12L Synonymous SNV P1869P 0.002 0 0 4 2 0 0.01 0 0 0 0 0 1.228 134636 chr4 70512788 70512788 T C rs530620535 UGT2A1 Nonsynonymous SNV Y192C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 134637 chr7 150648846 150648846 G A rs200692436 KCNH2 Synonymous SNV Y205Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.098 134638 chr4 141489018 141489018 C G rs79610439 UCP1 Synonymous SNV A80A 0.003 0 0 3 3 0 0.008 0 0 0 0 1 12.5 134639 chr7 151504651 151504651 G A rs188463382 LOC644090 Nonsynonymous SNV R112H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.826 134640 chr4 146791522 146791522 G A rs528410596 ZNF827 Nonsynonymous SNV P619L 0 0 0 2 0 0 0.005 0 0 0 0 0 23 134641 chr3 81698051 81698051 T C rs886058901 GBE1 Nonsynonymous SNV Y216C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 134642 chr6 127771327 127771327 T C rs147857938 KIAA0408 Synonymous SNV R102R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.675 134643 chr6 128643194 128643194 T C rs61757812 PTPRK Nonsynonymous SNV N162S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 13.98 134644 chr4 155533353 155533353 C T rs202132393 FGG Nonsynonymous SNV G42S 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 134645 chr7 157261127 157261127 C T rs34002063 LOC101927914 0 0 0.065 0 0 0 0 19 0 0 5 0 3.487 134646 chr7 1574402 1574402 C T rs116844385 LOC100128653 0 0 0.031 0 0 0 0 9 0 0 1 0 1.873 134647 chr3 170198531 170198531 C T rs150735619 SLC7A14 Nonsynonymous SNV V514M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 25 134648 chr7 16841312 16841312 G T AGR2 Synonymous SNV R37R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 134649 chr4 162697149 162697149 G C rs200762823 FSTL5 Nonsynonymous SNV Q162E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.145 134650 chr7 1937875 1937875 C T rs61736815 MAD1L1 Synonymous SNV S109S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.51 134651 chr6 135639715 135639715 G A rs117447608 AHI1 Nonsynonymous SNV S1123F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 28.7 134652 chr7 20449590 20449590 T C rs375056335 ITGB8 Synonymous SNV N760N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.793 134653 chr7 20682949 20682949 G A rs181716362 ABCB5 Nonsynonymous SNV G153S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.472 134654 chr4 79432453 79432453 G A rs61729366 FRAS1 Nonsynonymous SNV R3269Q 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Benign/Likely benign 32 134655 chr4 164069513 164069513 G A NAF1 Nonsynonymous SNV S205L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 134656 chr7 20689724 20689724 C T rs144527025 ABCB5 Nonsynonymous SNV T429M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 134657 chr4 16165036 16165036 G A rs34007466 TAPT1 Synonymous SNV D533D 0.009 0.003 0.003 4 10 1 0.01 1 0 0 0 0 Benign 9.98 134658 chr6 138655407 138655407 C G rs41289779 ARFGEF3 Synonymous SNV R1808R 0.006 0 0 3 7 0 0.008 0 0 0 0 0 Benign 8.22 134659 chr3 180364961 180364961 T C rs115545935 CCDC39 Nonsynonymous SNV Q478R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 14.87 134660 chr6 144262798 144262798 G T PLAGL1 Synonymous SNV G385G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.047 134661 chr4 1808635 1808635 C T rs750501941 FGFR3 Nonsynonymous SNV R638C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 134662 chr3 101391010 101391010 G T rs142875469 ZBTB11 Nonsynonymous SNV Q120K 0.004 0 0 0 5 0 0 0 0 0 0 0 27.1 134663 chr3 185990109 185990109 G A rs199698541 DGKG Nonsynonymous SNV R312C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 134664 chr4 184243394 184243394 C T rs763051724 CLDN24 Nonsynonymous SNV M62I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 134665 chr4 111480817 111480817 A G ENPEP Nonsynonymous SNV N886S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.79 134666 chr4 186091456 186091456 C T rs530615874 CFAP97 Synonymous SNV T453T 0 0 0 2 0 0 0.005 0 0 0 0 1 1.473 134667 chr7 33192395 33192395 C T rs373063776 BBS9 Synonymous SNV A20A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.09 134668 chr7 35293222 35293222 T A rs147393830 TBX20 Nonsynonymous SNV T4S 0 0 0.007 0 0 0 0 2 0 0 0 0 18.89 134669 chr4 6594998 6594998 A G MAN2B2 Nonsynonymous SNV N260S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.014 134670 chr3 193156359 193156359 A C rs150507166 ATP13A4 Synonymous SNV A859A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.624 134671 chr6 153345582 153345582 T C rs151215161 RGS17 Nonsynonymous SNV K87E 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.8 134672 chr4 120423809 120423809 A G rs114886951 PDE5A Nonsynonymous SNV I778T 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 Likely benign 29.7 134673 chr4 120463761 120463761 C T rs148360694 PDE5A Synonymous SNV E475E 0.013 0.01 0 8 15 4 0.021 0 0 0 0 0 Benign 16.07 134674 chr4 123230588 123230588 A G rs764027847 KIAA1109 Synonymous SNV P3407P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.748 134675 chr4 70455251 70455251 G A UGT2A1, UGT2A2 Nonsynonymous SNV R440W 0.004 0 0 0 5 0 0 0 0 0 0 0 22.4 134676 chr7 43484823 43484823 C T rs147766038 HECW1 Synonymous SNV S684S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13 134677 chr7 43548510 43548513 CAGG - rs146450445 LUARIS 0 0 0.003 0 0 0 0 1 0 0 0 0 134678 chr7 43906544 43906544 C T rs9154 MRPS24 Synonymous SNV T86T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 15.62 134679 chr4 1980574 1980574 G A NSD2 Nonsynonymous SNV G1346R 0 0 0 5 0 0 0.013 0 0 0 0 0 2.754 134680 chr7 43908661 43908661 G T rs17854882 MRPS24, URGCP-MRPS24 Nonsynonymous SNV P86Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.06 134681 chr7 44149875 44149875 A T rs61737461 AEBP1 Nonsynonymous SNV I444L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.46 134682 chr7 44152424 44152424 C A rs143544464 AEBP1 Nonsynonymous SNV P829T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.34 134683 chr7 44156821 44156821 G A rs3087364 POLD2 Synonymous SNV S164S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.36 134684 chr7 44579668 44579668 G A rs148405668 NPC1L1 Nonsynonymous SNV L110F 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.42 134685 chr7 44746975 44746975 A G rs112309751 OGDH Synonymous SNV T924T 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 6.811 134686 chr3 196674182 196674182 C T rs141227239 PIGZ Nonsynonymous SNV R529H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.323 134687 chr3 197670673 197670673 G A rs143691583 IQCG Synonymous SNV Y86Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 134688 chr7 45023495 45023495 C T rs559293110 SNHG15 0 0 0.003 0 0 0 0 1 0 0 0 0 3.967 134689 chr4 75065541 75065541 G A rs144442266 MTHFD2L Nonsynonymous SNV G161E 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 not provided 26.9 134690 chr4 2910308 2910308 G A rs146536048 ADD1 Nonsynonymous SNV V528M 0.002 0.003 0.017 2 2 1 0.005 5 0 0 0 0 Benign 23.7 134691 chr4 129120708 129120708 C T rs145541337 LARP1B Synonymous SNV G426G 0.008 0.016 0 3 9 6 0.008 0 0 0 0 0 13.89 134692 chr7 45216926 45216926 G A rs10272187 RAMP3 Nonsynonymous SNV G26D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.709 134693 chr4 265955 265955 T C rs144919218 ZNF732 Nonsynonymous SNV I231V 0.002 0 0.014 5 2 0 0.013 4 0 0 0 0 11.05 134694 chr3 20216058 20216058 T G rs9868701 SGO1 Nonsynonymous SNV Q322P 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign 0.053 134695 chr6 16254965 16254965 T C rs753174243 GMPR Nonsynonymous SNV M155T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 134696 chr4 3076606 3076606 - CAGCAGCAGCAGCAG HTT Q38_P39insQQQQQ 0.003 0 0 4 4 0 0.01 0 0 0 0 0 134697 chr7 4801881 4801881 G A rs370322820 FOXK1 Nonsynonymous SNV R663Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 134698 chr4 1397286 1397286 C T NKX1-1 Nonsynonymous SNV G261R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 134699 chr3 3097813 3097813 C T rs184575174 CNTN4 Nonsynonymous SNV A668V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 134700 chr4 3447025 3447025 C T rs144652114 HGFAC Synonymous SNV Y350Y 0.001 0 0 5 1 0 0.013 0 0 0 0 0 13.89 134701 chr3 33118688 33118688 C T rs201413167 GLB1 Synonymous SNV A39A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.484 134702 chr3 36526480 36526480 T C rs199583942 STAC Synonymous SNV F167F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.59 134703 chr3 38163785 38163785 G A rs151322214 DLEC1 Nonsynonymous SNV V1676M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 134704 chr4 156784608 156784608 A G rs34566545 ASIC5 Synonymous SNV N113N 0.011 0.008 0.01 2 13 3 0.005 3 0 0 0 0 0.881 134705 chr4 86916440 86916440 G A ARHGAP24 Nonsynonymous SNV D352N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23 134706 chr4 87023047 87023047 C T rs764026939 MAPK10 Synonymous SNV R188R 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 18.82 134707 chr4 84370063 84370063 A G HELQ Nonsynonymous SNV L355S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 29.4 134708 chr6 25855377 25855377 A T SLC17A3 Nonsynonymous SNV I158N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 134709 chr7 720274 720274 A G rs200458521 PRKAR1B Synonymous SNV P89P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.29 134710 chr6 26017708 26017708 G C rs200709664 H1-1 Nonsynonymous SNV L85V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 134711 chr4 8469917 8469917 C T rs199651886 TRMT44 Nonsynonymous SNV P350S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25 134712 chr6 26056129 26056129 C A rs140766420 H1-2 Nonsynonymous SNV K176N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.4 134713 chr3 42662976 42662976 A C rs35419602 NKTR Synonymous SNV R114R 0.013 0.008 0.01 4 15 3 0.01 3 0 0 0 0 0.016 134714 chr4 52948562 52948562 C T rs567554048 SPATA18 Synonymous SNV R230R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.42 134715 chr3 43121322 43121322 G A rs143832191 POMGNT2 Synonymous SNV Y534Y 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Likely benign 0.423 134716 chr4 54179932 54179932 T C SCFD2 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 134717 chr4 5461913 5461913 C T rs200401928 STK32B Synonymous SNV D259D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 134718 chr6 26393058 26393058 C T rs16891646 BTN2A2 Nonsynonymous SNV P269S 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign 23.3 134719 chr7 75959074 75959074 G A rs79130202 YWHAG Synonymous SNV N188N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.041 134720 chr4 55131118 55131118 C T rs139913632 PDGFRA Nonsynonymous SNV L221F 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 18.68 134721 chr6 26545696 26545696 G A rs34511704 HMGN4 Nonsynonymous SNV D88N 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 27.6 134722 chr7 81399282 81399282 C A rs745851853 HGF Nonsynonymous SNV W2C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 134723 chr6 28297317 28297317 T C rs142442794 ZSCAN31 Synonymous SNV Q48Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.566 134724 chr7 878583 878583 G T rs114826023 SUN1 Nonsynonymous SNV G76C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.365 134725 chr4 57796899 57796899 C T rs151038956 REST Synonymous SNV P625P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.36 134726 chr7 905630 905630 A G rs201361158 SUN1 Nonsynonymous SNV T533A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 134727 chr7 90895507 90895507 G A FZD1 Nonsynonymous SNV E438K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 134728 chr3 46785518 46785518 G A rs202037937 PRSS45P 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 18.64 134729 chr3 134880976 134880976 C T EPHB1 Synonymous SNV G513G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 15.16 134730 chr7 933595 933595 C T rs61748968 GET4 Synonymous SNV Y294Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.91 134731 chr4 69978394 69978394 A G UGT2B7 Synonymous SNV K510K 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.074 134732 chr7 99092152 99092152 C T rs61737534 ZNF394 Nonsynonymous SNV R229H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.643 134733 chr5 112901677 112901677 G A YTHDC2 Nonsynonymous SNV G635S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 134734 chr4 25767023 25767023 G A rs200557690 SEL1L3 Synonymous SNV G925G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.99 134735 chr5 1293676 1293678 TCC - rs377639087 TERT E441del 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 134736 chr4 77138835 77138835 A G rs779089305 FAM47E Synonymous SNV Q25Q 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.035 134737 chr3 148777586 148777586 A T HLTF Nonsynonymous SNV S431T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.967 134738 chr5 132560943 132560943 C T rs559312046 FSTL4 Nonsynonymous SNV R404Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 134739 chr6 41710111 41710111 G A rs61731757 PGC Synonymous SNV S188S 0.011 0.013 0.007 6 13 5 0.015 2 0 0 0 0 8.62 134740 chr3 50380448 50380448 G A rs770913452 ZMYND10 Nonsynonymous SNV L201F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.2 134741 chr3 50390804 50390804 G A rs200355935 CYB561D2 Nonsynonymous SNV G100S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 134742 chr3 51908182 51908182 T C rs200598264 IQCF5 Nonsynonymous SNV E5G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.569 134743 chr3 52283001 52283001 C G rs148950187 PPM1M Synonymous SNV S124S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.49 134744 chr6 42903204 42903204 T G CNPY3 Synonymous SNV L110L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 6.843 134745 chr5 137727921 137727921 A G rs536415376 KDM3B Nonsynonymous SNV K867R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23.6 134746 chr5 137895676 137895676 G A rs767209314 HSPA9 Synonymous SNV A429A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.46 134747 chr3 156170722 156170722 T A rs756745700 KCNAB1 Nonsynonymous SNV D118E 0.003 0 0 0 4 0 0 0 0 0 0 0 21.8 134748 chr8 11628990 11628990 C G rs753102938 NEIL2 Nonsynonymous SNV H12D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 134749 chr5 139193334 139193334 A C rs146400655 PSD2 Nonsynonymous SNV N271T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 17.05 134750 chr5 139493895 139493895 - GGC PURA G49_A50insG 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 134751 chr5 136448208 136448208 A G rs17170968 SPOCK1 Synonymous SNV P130P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.96 134752 chr4 84374386 84374386 T A rs898244549 HELQ Nonsynonymous SNV Y337F 0.003 0 0 0 4 0 0 0 0 0 0 0 28.5 134753 chr3 53856655 53856655 C T rs377715549 CHDH Nonsynonymous SNV A240T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 134754 chr5 137486686 137486686 T G rs59676375 BRD8 Nonsynonymous SNV L956F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.2 134755 chr3 170198506 170198506 G A rs545083036 SLC7A14 Nonsynonymous SNV A522V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 19.74 134756 chr6 46684792 46684792 A T rs145315433 PLA2G7 Nonsynonymous SNV F51I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.021 134757 chr5 139227654 139227654 C A rs201901386 NRG2 Nonsynonymous SNV A735S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.14 134758 chr8 129061422 129061422 G A rs191866221 MIR1207 0 0 0.003 0 0 0 0 1 0 0 0 0 9.254 134759 chr5 140023765 140023765 G A rs370199625 TMCO6 Nonsynonymous SNV V156M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.6 134760 chr5 160025971 160025971 C T rs758605751 ATP10B Nonsynonymous SNV V1124I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 34 134761 chr3 183882972 183882974 AGA - rs775552727 DVL3 K225del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 134762 chr5 167855741 167855741 A T rs147028251 WWC1 Nonsynonymous SNV D650V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 134763 chr4 98902471 98902471 T C rs761724710 STPG2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 134764 chr5 150029493 150029493 C T rs138232729 SYNPO Synonymous SNV N552N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.01 134765 chr5 140731528 140731528 C T rs375476706 PCDHGB1 Synonymous SNV G567G 0.002 0.01 0.01 0 2 4 0 3 0 1 0 0 1.296 134766 chr4 99823130 99823130 T C EIF4E Nonsynonymous SNV T28A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.76 134767 chr5 171777488 171777488 G A SH3PXD2B Synonymous SNV A297A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.044 134768 chr8 143808869 143808869 C T rs202056172 THEM6 Synonymous SNV R35R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.46 134769 chr5 112437636 112437636 C T rs1005315466 MCC Nonsynonymous SNV E210K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 134770 chr8 144063723 144063723 G A rs79326703 LY6E-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 4.549 134771 chr8 144063817 144063817 G A rs77619697 LY6E-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 2.422 134772 chr5 112876675 112876675 A G rs368700965 YTHDC2 Synonymous SNV Q107Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.976 134773 chr3 192981010 192981010 G A rs145159791 PLAAT1 Nonsynonymous SNV G131R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 134774 chr3 193048974 193048974 A C rs75032809 ATP13A5 Nonsynonymous SNV F467V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 134775 chr6 75866072 75866072 C G rs374540275 COL12A1 Nonsynonymous SNV V1051L 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Uncertain significance 13.07 134776 chr5 148207492 148207492 T C rs41354346 ADRB2 Synonymous SNV Y366Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 134777 chr3 19575217 19575217 G C rs35160416 KCNH8 Nonsynonymous SNV E984Q 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 14.36 134778 chr4 76892538 76892539 TT - SDAD1 K225Vfs*21 0.002 0 0 0 2 0 0 0 0 0 0 0 134779 chr4 77102253 77102253 C T rs145870223 SCARB2 Nonsynonymous SNV E93K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 33 134780 chr4 77476909 77476909 G C rs144913986 SHROOM3 Nonsynonymous SNV V106L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.4 134781 chr17 3567551 3567551 G A rs138620805 TAX1BP3 Nonsynonymous SNV R59W 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 35 134782 chr8 145169474 145169474 G - WDR97 K1270Nfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 134783 chr5 176024226 176024226 G A rs17854764 GPRIN1 Synonymous SNV S870S 0.003 0 0 0 4 0 0 0 0 0 0 0 14 134784 chr5 13721112 13721112 C T rs763359823 DNAH5 Synonymous SNV A4092A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.611 134785 chr7 100212538 100212538 C T rs778222272 MOSPD3 Nonsynonymous SNV T177M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.2 134786 chr8 145979637 145979637 G A ZNF251 Stop gain Q35X 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 134787 chr17 4638400 4638400 C T rs138114709 CXCL16 Synonymous SNV P254P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 16.41 134788 chr4 1164318 1164318 G A rs141581437 SPON2 Nonsynonymous SNV P228L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 134789 chr5 177683375 177683375 C T rs188250733 COL23A1 Synonymous SNV T287T 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 11.87 134790 chr5 156589491 156589491 C T rs144807004 FAM71B Synonymous SNV T595T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 11.48 134791 chr5 38407981 38407981 G T rs144280109 EGFLAM Nonsynonymous SNV A174S 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 16.36 134792 chr5 160113242 160113242 T C rs184217288 ATP10B Nonsynonymous SNV N149S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.7 134793 chr8 21847879 21847879 G T rs17060715 XPO7 Synonymous SNV V609V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 134794 chr8 21882959 21882959 G A rs7815455 NPM2 Nonsynonymous SNV S24N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.264 134795 chr8 22972206 22972206 C T rs771607229 TNFRSF10C Nonsynonymous SNV P68L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 134796 chr17 7107366 7107366 G C rs575303983 DLG4 Synonymous SNV T30T 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 10.5 134797 chr4 1360144 1360144 G A rs142249516 UVSSA Nonsynonymous SNV D405N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 134798 chr4 89649649 89649649 C T rs141659205 FAM13A-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 5.696 134799 chr8 26441428 26441428 A T DPYSL2 Nonsynonymous SNV Q186L 0 0 0.01 0 0 0 0 3 0 0 0 0 17.86 134800 chr4 144438530 144438530 C T rs944364500 SMARCA5 Nonsynonymous SNV P67L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 134801 chr8 27099232 27099232 C G rs150158276 STMN4 Nonsynonymous SNV R51P 0 0 0.01 1 0 0 0.003 3 0 0 0 0 18.17 134802 chr17 7680831 7680831 T C rs201995726 DNAH2 Nonsynonymous SNV I1709T 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 23.4 134803 chr8 28574380 28574380 G A rs17059326 EXTL3 Synonymous SNV T268T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.902 134804 chr8 28575451 28575451 A G rs143652582 EXTL3 Synonymous SNV S625S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.197 134805 chr8 28575712 28575712 C T rs151073081 EXTL3 Synonymous SNV G712G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.62 134806 chr8 29025045 29025045 C T rs140358824 KIF13B Nonsynonymous SNV D335N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 134807 chr5 56207320 56207320 T C rs762619528 SETD9 Synonymous SNV T141T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 134808 chr8 3009020 3009020 G A rs201704028 CSMD1 Nonsynonymous SNV T1977M 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Benign 14.71 134809 chr5 145214779 145214779 C T rs781109128 PRELID2 Synonymous SNV K12K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.58 134810 chr5 149754339 149754339 G A rs760076793 TCOF1 Nonsynonymous SNV E338K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 134811 chr5 149772281 149772281 C T rs149395927 TCOF1 Synonymous SNV P1099P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.77 134812 chr3 46245329 46245329 G A rs61752589 CCR1 Nonsynonymous SNV A159V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.001 134813 chr8 37593518 37593518 G A rs529008637 LOC102723701 0 0 0.014 0 0 0 0 4 0 0 0 0 1.047 134814 chr5 66479072 66479072 T C rs375250611 CD180 Synonymous SNV T533T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.011 134815 chr17 10366924 10366924 G - rs372204896 MYH4 L229Yfs*11 0.001 0 0 3 1 0 0.008 0 0 0 0 0 134816 chr5 70754567 70754567 C T rs9687593 BDP1 Nonsynonymous SNV A125V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 6.992 134817 chr4 15780163 15780163 C G rs770704687 CD38 Synonymous SNV V42V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.86 134818 chr8 39521410 39521410 G A ADAM18 0 0 0.003 0 0 0 0 1 0 0 0 0 26 134819 chr7 100807144 100807144 G T rs545846186 VGF Synonymous SNV L327L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.042 134820 chr17 11166786 11166786 G A rs112380460 SHISA6 Nonsynonymous SNV V248I 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 25.4 134821 chr5 70952573 70952573 A G rs114527907 MCCC2 Synonymous SNV V488V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 11.87 134822 chr5 71490625 71490625 G A rs533759374 MAP1B Synonymous SNV A355A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.969 134823 chr5 31468123 31468123 G T rs536731391 DROSHA Nonsynonymous SNV N726K 0 0.005 0 3 0 2 0.008 0 0 0 0 0 18.71 134824 chr5 151208510 151208510 C T rs199618583 GLRA1 Nonsynonymous SNV R261Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.1 134825 chr3 48697715 48697715 C A CELSR3 Nonsynonymous SNV A785S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 134826 chr7 10978463 10978463 G A NDUFA4 Nonsynonymous SNV R35C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 134827 chr7 111503433 111503433 T C rs753040390 DOCK4 Nonsynonymous SNV N823S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.1 134828 chr7 11416280 11416280 C T rs144799458 THSD7A Synonymous SNV G1602G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Likely benign 15.55 134829 chr8 67335965 67335965 C T rs958992534 RRS1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.342 134830 chr7 117188797 117188797 A G rs201434579 CFTR Nonsynonymous SNV T438A 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.332 134831 chr4 18023322 18023333 GCGGCGGCAGCA - LCORL A19_A22del 0.001 0 0 0 1 0 0 0 0 0 0 0 134832 chr3 52380743 52380743 G A rs201988957 DNAH1 Nonsynonymous SNV D638N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 10.86 134833 chr8 73157091 73157091 A C LOC392232 0 0 0.003 0 0 0 0 1 0 0 0 0 4.367 134834 chr5 154278151 154278151 G A rs115551140 GEMIN5 Nonsynonymous SNV A1064V 0.005 0.005 0 8 6 2 0.021 0 0 0 0 0 Likely benign 15.91 134835 chr8 75737625 75737625 A G rs200297356 PI15 Synonymous SNV Q47Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.059 134836 chr5 78936938 78936938 T C rs142919591 TENT2 Synonymous SNV L197L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 1.648 134837 chr3 53126488 53126488 C T rs372822382 RFT1 Nonsynonymous SNV R452H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 134838 chr7 128485240 128485240 C T rs146953558 FLNC Nonsynonymous SNV R1241C 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 27 134839 chr5 176618904 176618904 C A rs1020532948 NSD1 Nonsynonymous SNV S316Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 134840 chr8 95850702 95850702 A G rs77629237 INTS8 Synonymous SNV L291L 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 9.56 134841 chr5 54275218 54275218 A G rs138338667 ESM1 Nonsynonymous SNV V116A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.008 134842 chr5 82834348 82834348 C T rs150593011 VCAN Synonymous SNV A855A 0.007 0 0 1 8 0 0.003 0 0 0 0 0 Benign/Likely benign 12.42 134843 chr5 177574637 177574637 G T rs200995810 RMND5B 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 134844 chr9 100416145 100416145 C T rs769811529 NCBP1 Synonymous SNV L5L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 134845 chr5 79032370 79032370 T G CMYA5 Synonymous SNV V2594V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.834 134846 chr3 57743409 57743409 C T rs767298958 SLMAP Nonsynonymous SNV R11C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.4 134847 chr4 25675943 25675943 G C rs76404281 SLC34A2 Nonsynonymous SNV L413F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 18.04 134848 chr3 58406262 58406262 G C rs145463454 PXK 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 14.55 134849 chr7 134891917 134891917 C G rs146886305 WDR91 Nonsynonymous SNV Q183H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.3 134850 chr4 2661677 2661677 G A rs141633773 FAM193A Synonymous SNV P256P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.494 134851 chr3 58792156 58792156 C G C3orf67 Nonsynonymous SNV Q679H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.5 134852 chr3 58849291 58849291 C T rs34322986 C3orf67 Nonsynonymous SNV S474N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 13.84 134853 chr3 58849590 58849590 A T rs35778488 C3orf67 Nonsynonymous SNV D374E 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 3.289 134854 chr5 179498691 179498691 C A rs750693660 RNF130 Synonymous SNV A4A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.4 134855 chr5 140788031 140788031 A G rs764186219 PCDHGB6 Nonsynonymous SNV N88D 0.005 0.005 0 0 6 2 0 0 0 0 0 0 5.979 134856 chr4 3201589 3201589 G A rs567423277 HTT Synonymous SNV V1833V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 134857 chr3 63594941 63594941 C T rs200360020 SYNPR Synonymous SNV N163N 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 12.69 134858 chr4 3446421 3446421 G T rs762802380 HGFAC Nonsynonymous SNV A268S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 134859 chr3 69101123 69101123 C T TMF1 Nonsynonymous SNV A39T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 134860 chr5 145428758 145428758 C T rs36058593 SH3RF2 Synonymous SNV V424V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.74 134861 chr9 109690981 109690981 C T rs773881436 ZNF462 Synonymous SNV Y1596Y 0 0 0.007 0 0 0 0 2 0 0 0 0 6.234 134862 chr3 78719305 78719305 T G ROBO1 Nonsynonymous SNV T461P 0.003 0 0 0 3 0 0 0 0 0 0 0 18.55 134863 chr9 111870811 111870811 A G rs61742105 TMEM245 Nonsynonymous SNV F207L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 134864 chr5 72469090 72469090 G A rs142247362 TMEM174 Nonsynonymous SNV R7H 0.003 0.013 0 0 4 5 0 0 0 0 0 0 1.066 134865 chr9 113800931 113800931 C T rs77865995 LPAR1 0 0 0.027 0 0 0 0 8 0 0 0 0 10.63 134866 chr9 114687061 114687061 C T rs1134931 UGCG Synonymous SNV G116G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 6.403 134867 chr5 39306790 39306790 C T rs374259433 C9 Nonsynonymous SNV V449M 0.002 0 0 0 2 0 0 0 0 0 0 0 3.108 134868 chr4 436706 436706 G A ZNF721 Nonsynonymous SNV T517I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.412 134869 chr4 47560962 47560962 A G rs771068074 ATP10D Synonymous SNV Q819Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 134870 chr6 107391645 107391645 G A rs781912717 BEND3 Synonymous SNV A250A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.01 134871 chr4 48165724 48165724 T C rs142459783 TEC Synonymous SNV Q244Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.476 134872 chr7 1484691 1484691 G A rs114247987 MICALL2 Nonsynonymous SNV R339C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 23.5 134873 chr7 148768734 148768734 C A ZNF786 Nonsynonymous SNV R377L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 134874 chr4 5696121 5696121 - A EVC2 Frameshift insertion I51Yfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 134875 chr5 34823646 34823646 A G rs368698491 RAI14 Nonsynonymous SNV T538A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 134876 chr4 57335922 57335922 C G SRP72 Nonsynonymous SNV H71Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 134877 chr7 149519742 149519742 G A rs201102091 SSPO 0.007 0.003 0 0 8 1 0 0 0 0 0 0 13.93 134878 chr9 124855593 124855593 A C rs537954758 TTLL11 Nonsynonymous SNV D35E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.038 134879 chr9 125154535 125154535 T C rs3842803 PTGS1 Synonymous SNV P456P 0.012 0.008 0.024 8 14 3 0.021 7 0 0 0 0 0.004 134880 chr5 37201753 37201753 T C rs141425550 CPLANE1 Synonymous SNV P1149P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.566 134881 chr6 126334246 126334246 G C rs765548487 TRMT11 Nonsynonymous SNV E182Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 134882 chr6 117825028 117825028 A G rs117193276 DCBLD1 Nonsynonymous SNV T71A 0.005 0 0 0 6 0 0 0 0 0 0 0 15.7 134883 chr4 111470684 111470684 G T rs182927441 ENPEP Nonsynonymous SNV K742N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.5 134884 chr6 132206095 132206095 C A rs200239821 ENPP1 Nonsynonymous SNV T779N 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 134885 chr9 125673734 125673734 A G ZBTB6 Synonymous SNV S206S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 134886 chr5 169672977 169672977 T A C5orf58 Nonsynonymous SNV L36I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 134887 chr9 127975785 127975785 A G rs149635799 RABEPK Synonymous SNV L116L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.341 134888 chr5 96139459 96139459 G A rs145825678 ERAP1 Synonymous SNV Y57Y 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 Benign 1.348 134889 chr4 76439449 76439449 A C RCHY1, RCHY1 Synonymous SNV G16G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.34 134890 chr5 98236974 98236974 T C rs370850474 CHD1 Nonsynonymous SNV E168G 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 19.91 134891 chr5 177569905 177569905 G A rs373641380 RMND5B Nonsynonymous SNV R100Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.01 134892 chr7 26236235 26236235 T C rs34317198 HNRNPA2B1 Synonymous SNV R173R 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Benign 6.116 134893 chr7 2686776 2686776 C T rs780950302 TTYH3 Synonymous SNV S98S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.17 134894 chr5 180219057 180219057 G A rs371643948 MGAT1 Synonymous SNV R305R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.158 134895 chr5 71015151 71015151 C A rs142927190 CARTPT Nonsynonymous SNV L11I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.73 134896 chr9 135205439 135205439 C T rs566951102 SETX Nonsynonymous SNV A516T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.202 134897 chr7 29519736 29519736 G C CHN2 Nonsynonymous SNV E4Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.8 134898 chr17 48431800 48431800 G C rs571962145 XYLT2 Nonsynonymous SNV E220D 0 0 0 3 0 0 0.008 0 0 0 0 0 12.09 134899 chr5 79033464 79033464 C T rs772269585 CMYA5 Nonsynonymous SNV P2959L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 32 134900 chr6 116263772 116263772 C A FRK Nonsynonymous SNV Q441H 0 0.005 0 0 0 2 0 0 0 0 0 0 25.4 134901 chr17 48543221 48543221 C T rs560202078 CHAD Nonsynonymous SNV G262D 0 0 0 3 0 0 0.008 0 0 0 0 0 12.15 134902 chr5 79854935 79854935 T C rs150142623 ANKRD34B Nonsynonymous SNV T302A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.64 134903 chr17 48619368 48619368 C T rs374678158 EPN3 Synonymous SNV L583L 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 15.94 134904 chr4 88904005 88904005 G A rs4660 SPP1 Nonsynonymous SNV R260H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.8 134905 chr4 88989102 88989102 G A rs145343957 PKD2 Nonsynonymous SNV S804N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 134906 chr7 36373581 36373581 C T rs769015417 KIAA0895 Nonsynonymous SNV S384N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.2 134907 chr4 89186162 89186162 C T rs34981823 PPM1K Synonymous SNV V326V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.15 134908 chr4 90169025 90169025 C T rs17015286 GPRIN3 Nonsynonymous SNV R746K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.64 134909 chr9 139301880 139301880 T C rs200698119 ENTR1 Nonsynonymous SNV D106G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.7 134910 chr4 90856564 90856564 C G rs75749135 MMRN1 Nonsynonymous SNV T578S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 134911 chr6 123957898 123957898 C A TRDN 0 0.005 0 0 0 2 0 0 0 0 0 0 Pathogenic 26.6 134912 chr6 128320027 128320027 T A rs369306322 PTPRK Synonymous SNV A839A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.39 134913 chr7 44608785 44608785 G A rs76437461 DDX56 Synonymous SNV L373L 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Benign 2.506 134914 chr5 96358060 96358060 G A rs58748938 LNPEP Synonymous SNV E811E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.62 134915 chr6 133137962 133137962 C T rs373631168 SNORD100 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.23 134916 chr4 174295104 174295104 A G rs202001068 SAP30 Synonymous SNV Q152Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 8.009 134917 chr6 16327894 16327894 - TGATGCTGA rs766029394 ATXN1 Q215_Q216insHQH 0.002 0 0 1 2 0 0.003 0 0 0 0 0 134918 chr6 136944112 136944112 T C rs372654498 MAP3K5 Nonsynonymous SNV Y675C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 134919 chr9 140605439 140605439 G C rs370545724 EHMT1 Nonsynonymous SNV E14D 0 0 0.003 0 0 0 0 1 0 0 0 0 25 134920 chr5 11397153 11397153 C T rs146014959 CTNND2 Nonsynonymous SNV S110N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 134921 chr4 184186886 184186886 C G WWC2 Synonymous SNV A695A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.542 134922 chr6 144844317 144844317 C T rs116699477 UTRN Nonsynonymous SNV R1967W 0 0 0 0 0 0 0 0 0 0 0 0 Benign 27.9 134923 chr5 59938657 59938657 T C rs199716657 DEPDC1B Nonsynonymous SNV M247V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 134924 chr7 49815334 49815334 C A rs200808885 VWC2 Synonymous SNV G101G 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 16.93 134925 chr5 64756093 64756093 G A ADAMTS6 Nonsynonymous SNV H179Y 0.003 0 0 0 3 0 0 0 0 0 0 0 23 134926 chr6 112460383 112460383 C T rs782099866 LAMA4 Nonsynonymous SNV R1074H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 134927 chr6 24289124 24289124 A C rs144695853 DCDC2 Nonsynonymous SNV S239A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 134928 chr5 122725761 122725761 T C rs114281792 CEP120 Nonsynonymous SNV K345R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.44 134929 chr5 129072901 129072901 A G rs549067116 ADAMTS19 Nonsynonymous SNV Q1211R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.79 134930 chr6 117704607 117704607 T C rs34582164 ROS1 Nonsynonymous SNV N790S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.2 134931 chr6 117718218 117718218 G A rs61729672 ROS1 Synonymous SNV V213V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.958 134932 chr9 34125087 34125087 A C DCAF12 Synonymous SNV L89L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.223 134933 chr7 6190119 6190119 G T rs199521734 USP42 Nonsynonymous SNV G728V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.11 134934 chr9 35563362 35563362 A G FAM166B Synonymous SNV L29L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.506 134935 chr6 155486450 155486450 G A rs117029710 TIAM2 Synonymous SNV Q756Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.947 134936 chr6 158549279 158549279 G A rs746614907 SERAC1 Synonymous SNV I292I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.84 134937 chr9 36882049 36882049 C T rs34810717 PAX5 Nonsynonymous SNV A279T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 not provided 20.3 134938 chr5 76708046 76708046 C A rs140381860 PDE8B Synonymous SNV A469A 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign/Likely benign 10.61 134939 chr4 3076606 3076606 - CAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQ 0.003 0 0 0 4 0 0 0 0 0 0 0 134940 chr5 137625228 137625228 C G rs11567997 CDC25C Nonsynonymous SNV G224R 0.01 0.008 0.003 2 12 3 0.005 1 0 0 0 0 33 134941 chr5 78610486 78610486 C T rs116121324 JMY Nonsynonymous SNV P824L 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 24.5 134942 chr6 136512972 136512972 C G rs77357372 PDE7B Nonsynonymous SNV S449R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.016 134943 chr6 136681924 136681926 CTT - rs143950846 MAP7 E477del 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 134944 chr6 160232807 160232807 G T PNLDC1 Nonsynonymous SNV D310Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.4 134945 chr6 1390277 1390282 CCGCCG - rs777365162 FOXF2 A40_A41del 0.001 0 0 0 1 0 0 0 0 0 0 0 134946 chr7 76922314 76922314 A T rs144507189 CCDC146 Nonsynonymous SNV M821L 0.009 0.005 0.017 2 10 2 0.005 5 0 0 0 0 25.6 134947 chr5 139931676 139931676 G A rs765861324 SRA1 Nonsynonymous SNV P94L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 134948 chr9 712397 712397 C G KANK1 Nonsynonymous SNV T386R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.07 134949 chr4 39449095 39449095 G A KLB Nonsynonymous SNV A917T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 134950 chr5 82786239 82786239 C T rs35042106 VCAN Synonymous SNV D131D 0.019 0.016 0.01 5 22 6 0.013 3 0 0 0 0 Benign 11.3 134951 chr5 82815537 82815537 C T rs528488016 VCAN Nonsynonymous SNV T471M 0.006 0 0 2 7 0 0.005 0 0 0 0 0 24.5 134952 chr6 146256481 146256481 G A rs759003229 SHPRH Nonsynonymous SNV P889L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24.7 134953 chr5 87485813 87485813 G A rs114014589 TMEM161B Nonsynonymous SNV A487V 0.007 0.01 0 1 8 4 0.003 0 1 0 0 0 3.527 134954 chr9 75445414 75445414 C T rs573874378 TMC1 Nonsynonymous SNV A726V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 134955 chr6 4069178 4069178 T C rs545235485 FAM217A Nonsynonymous SNV M427V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 134956 chr6 166923838 166923838 G A rs751960391 RPS6KA2 Synonymous SNV D13D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.493 134957 chr6 167754360 167754360 C T rs77767783 TTLL2 Synonymous SNV L324L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.15 134958 chr6 151671757 151671757 C T rs749579577 AKAP12 Nonsynonymous SNV P639L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.8 134959 chr5 141335682 141335682 C T rs114449118 PCDH12 Nonsynonymous SNV V579M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Likely benign 25 134960 chr9 90321841 90321841 C T rs200111269 DAPK1 Synonymous SNV F1285F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 134961 chr4 55138622 55138622 G T rs1060504252 PDGFRA Synonymous SNV V433V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 4.843 134962 chr6 152658048 152658048 T C SYNE1 Synonymous SNV Q4081Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.889 134963 chr5 145435593 145435593 T G rs767023850 SH3RF2 Nonsynonymous SNV W458G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 134964 chr6 105573424 105573424 C T rs9486039 BVES Nonsynonymous SNV M127I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 12.07 134965 chr6 152683316 152683316 C T rs1047722501 SYNE1 Nonsynonymous SNV G3437R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 134966 chrUn_gl000219 56612 56612 G A LOC105379477, LOC283788 0 0 0.051 0 0 0 0 15 0 0 5 0 134967 chr6 158834153 158834153 C T rs200173619 TULP4 Synonymous SNV D103D 0.004 0 0 2 5 0 0.005 0 0 0 0 0 7.961 134968 chr6 159653629 159653629 G T rs377692454 FNDC1 Synonymous SNV S695S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.535 134969 chr8 101300023 101300023 C T rs749044247 RNF19A Nonsynonymous SNV G127E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 134970 chr6 5086557 5086557 - A PPP1R3G Frameshift insertion P280Hfs*34 0.002 0 0 1 2 0 0.003 0 0 0 0 0 134971 chr17 79893246 79893246 G A rs113491328 PYCR1 Synonymous SNV C95C 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.698 134972 chr17 79953890 79953890 G A rs752066409 ASPSCR1 Nonsynonymous SNV R75Q 0 0 0 3 0 0 0.008 0 0 0 0 0 10.95 134973 chr6 112671564 112671564 C A rs577059806 RFPL4B Synonymous SNV I218I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.8 134974 chr4 68396634 68396634 T A CENPC 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.98 134975 chr5 150646969 150646969 G C rs368576623 GM2A Nonsynonymous SNV R180P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 134976 chrX 130215765 130215765 C A rs773226775 ARHGAP36 Nonsynonymous SNV N30K 0 0 0.007 0 0 0 0 2 0 0 1 0 9.799 134977 chr6 151673947 151673947 C T rs370536150 AKAP12 Nonsynonymous SNV P1369L 0 0 0 3 0 0 0.008 0 0 0 0 0 14.37 134978 chr6 46977786 46977786 C G rs45461593 ADGRF1 Nonsynonymous SNV G462A 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 19.36 134979 chr8 109483100 109483100 A C rs573393074 EMC2 Nonsynonymous SNV H176P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.132 134980 chr6 166574360 166574360 G A rs116620192 TBXT Synonymous SNV P275P 0.005 0 0 3 6 0 0.008 0 0 0 0 0 9.991 134981 chr8 113304806 113304806 C T CSMD3 Synonymous SNV Q2716Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 11.61 134982 chr6 152751622 152751622 T C rs370852402 SYNE1 Nonsynonymous SNV R1569G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 12.36 134983 chr5 150947891 150947891 C G rs11739693 FAT2 Nonsynonymous SNV G201A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 134984 chr4 71522191 71522191 T C JCHAIN Nonsynonymous SNV N112S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 134985 chrX 152106677 152106677 C T rs781976898 ZNF185 Nonsynonymous SNV A172V 0 0 0.007 0 0 0 0 2 0 0 1 0 10.58 134986 chr6 167343140 167343140 C T rs146590748 RNASET2 Nonsynonymous SNV R236Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.849 134987 chrX 153216900 153216900 C T rs199511876 HCFC1 Nonsynonymous SNV M1806I 0.006 0 0.014 0 7 0 0 4 2 0 1 0 Benign/Likely benign 12.22 134988 chr6 129670476 129670476 C T rs35089085 LAMA2 Synonymous SNV D1490D 0.005 0.013 0.007 5 6 5 0.013 2 0 0 0 0 Benign/Likely benign 12.22 134989 chrX 154280029 154280029 C T rs781797319 FUNDC2 Nonsynonymous SNV R149C 0.002 0 0.007 0 2 0 0 2 1 0 1 0 23.3 134990 chr6 170036506 170036506 A C rs202036897 WDR27 Nonsynonymous SNV L464R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.9 134991 chr6 36107131 36107131 G A rs150915766 MAPK13 Nonsynonymous SNV R360Q 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 21.7 134992 chr6 36168072 36168072 A G rs184803483 BRPF3 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.5 134993 chr6 36182129 36182129 A G rs41270092 BRPF3 Synonymous SNV E985E 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 7.465 134994 chr5 167675227 167675227 G A rs367921349 TENM2 Nonsynonymous SNV R2189H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 134995 chr6 83075779 83075779 C T rs151274317 TPBG Synonymous SNV G367G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.72 134996 chr4 81121319 81121319 G A rs199585477 PRDM8 Nonsynonymous SNV V29I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 134997 chr6 36690243 36690243 T C rs534527709 RAB44 Nonsynonymous SNV S778P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.857 134998 chr6 36931300 36931300 C T rs114176275 PI16 Synonymous SNV S394S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 17.48 134999 chrX 48418199 48418199 C T rs147905568 TBC1D25 Synonymous SNV Y317Y 0.003 0.01 0.014 1 3 4 0.003 4 0 1 2 0 0.748 135000 chr5 169028315 169028315 G A rs78017607 SPDL1 Synonymous SNV R452R 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 13.75 135001 chr5 169028316 169028316 C A rs78480498 SPDL1 Nonsynonymous SNV R453S 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 33 135002 chrX 49099829 49099829 G A rs150796681 CCDC22 Synonymous SNV S205S 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 9.551 135003 chr4 83350544 83350544 G A rs140863242 HNRNPDL Synonymous SNV A100A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 135004 chr5 171303319 171303319 G A rs61749649 FBXW11 Synonymous SNV I342I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 14.83 135005 chr6 38863813 38863813 A G rs148193715 DNAH8 Nonsynonymous SNV I2701V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 1.872 135006 chr6 88211000 88211000 G - SLC35A1 Stop gain W160* 0.002 0 0 3 2 0 0.008 0 0 0 0 0 135007 chrX 68060287 68060287 G A rs763142613 EFNB1 Synonymous SNV A277A 0 0 0.007 0 0 0 0 2 0 0 1 0 8.62 135008 chr6 90415894 90415894 T C rs41273331 MDN1 Nonsynonymous SNV T2678A 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 15.38 135009 chr6 74495113 74495113 T C rs142124869 CD109 Synonymous SNV I673I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.875 135010 chr6 90578418 90578418 T A rs779247336 CASP8AP2 Nonsynonymous SNV S1803R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 5.518 135011 chr8 140744344 140744344 G A rs147499593 TRAPPC9 Nonsynonymous SNV R1044C 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 135012 chr6 151142342 151142342 C T rs140780640 PLEKHG1 Nonsynonymous SNV R435W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 135013 chr6 99848591 99848591 C T rs150453789 PNISR Nonsynonymous SNV S730N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 23.6 135014 chr5 177638965 177638965 T A rs142181517 PHYKPL Nonsynonymous SNV E396V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Pathogenic 25.3 135015 chr8 143746127 143746127 G A rs372007417 JRK Nonsynonymous SNV R451W 0.002 0 0 0 2 0 0 0 0 0 0 0 6.315 135016 chr6 89871597 89871597 A G PM20D2 Nonsynonymous SNV T382A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.63 135017 chr6 43100373 43100373 C T rs56004029 PTK7 Synonymous SNV H400H 0.002 0.01 0.003 4 2 4 0.01 1 0 0 0 0 15.06 135018 chr6 89910949 89910949 G A rs143197057 GABRR1 Nonsynonymous SNV S53L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23 135019 chr8 144461220 144461220 C T rs985784607 RHPN1 Synonymous SNV R241R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.6 135020 chr10 102771699 102771699 G C rs528139723 PDZD7 Nonsynonymous SNV A639G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 135021 chr6 90398237 90398237 C T rs935996211 LOC101929057 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.713 135022 chr10 103340081 103340081 G A rs41562219 POLL Synonymous SNV D154D 0.001 0.003 0.01 3 1 1 0.008 3 0 0 0 0 10.64 135023 chr6 44221332 44221336 TTAGG - rs1044185635 HSP90AB1 D724D 0 0.003 0 0 0 1 0 0 0 0 0 0 135024 chr8 144899616 144899616 C T rs368804058 PUF60 Synonymous SNV A297A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.54 135025 chr6 28358615 28358615 A G rs549165020 ZSCAN12 Synonymous SNV L484L 0 0 0 2 0 0 0.005 0 0 0 0 0 1.41 135026 chr6 160485488 160485488 G A rs371109078 IGF2R Synonymous SNV T1314T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.286 135027 chr6 3456204 3456204 T C rs774447303 SLC22A23 Nonsynonymous SNV N197S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.049 135028 chr10 116038598 116038598 G C VWA2 Nonsynonymous SNV C274S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 135029 chr10 11653526 11653526 - GCG LOC107984208 0 0 0.024 0 0 0 0 7 0 0 1 0 135030 chr10 117825111 117825111 C T rs374656900 GFRA1 Synonymous SNV S287S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 135031 chr10 118350674 118350674 G T PNLIPRP1 Synonymous SNV L11L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.003 135032 chr6 40359835 40359835 C A rs142012380 LRFN2 Synonymous SNV P739P 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 Benign 10.4 135033 chr6 41304110 41304110 G A rs180750063 NCR2 Nonsynonymous SNV R113H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.038 135034 chr6 41774293 41774293 C G rs765387773 USP49 Synonymous SNV L143L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.729 135035 chr8 145667676 145667676 T G TONSL Nonsynonymous SNV H233P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.835 135036 chr6 170594706 170594706 G A rs151141942 DLL1 Synonymous SNV P271P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.24 135037 chr6 170627739 170627739 G C rs17860761 FAM120B Nonsynonymous SNV A433P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 135038 chr6 170627767 170627767 A G rs6900202 FAM120B Nonsynonymous SNV D442G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 135039 chr6 170627769 170627769 T C rs6905610 FAM120B Nonsynonymous SNV S443P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 135040 chr6 170627775 170627775 C G rs6934830 FAM120B Nonsynonymous SNV P445A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 135041 chr18 64172434 64172434 C G rs55874520 CDH19 Nonsynonymous SNV G645A 0.005 0.005 0.01 4 6 2 0.01 3 0 0 0 0 26.2 135042 chr6 170627833 170627833 A G rs113811703 FAM120B Nonsynonymous SNV Y464C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 135043 chr5 43537008 43537008 A T rs142870333 PAIP1 Synonymous SNV I295I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.699 135044 chr6 170627839 170627839 G A rs112210589 FAM120B Nonsynonymous SNV G466D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 135045 chr6 39824164 39824164 A G rs34924764 DAAM2 Nonsynonymous SNV D29G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 22.8 135046 chr10 127569153 127569153 C T rs143250708 DHX32 Nonsynonymous SNV V81M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 135047 chr10 127705873 127705873 G A rs145366196 ADAM12 Nonsynonymous SNV S899F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 135048 chr7 102614147 102614147 C T rs182316080 NFE4 Synonymous SNV A48A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.261 135049 chr6 27279481 27279481 C T rs201661976 POM121L2 Nonsynonymous SNV E157K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 135050 chr5 66462311 66462311 A G rs539560876 MAST4 Nonsynonymous SNV N2174S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 135051 chr7 116918333 116918333 C T rs747265580 WNT2 Nonsynonymous SNV R320Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 135052 chr7 117304831 117304831 G A rs763602969 CFTR Synonymous SNV K1351K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.76 135053 chr7 117304832 117304832 C G rs751098333 CFTR Nonsynonymous SNV Q1352E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 135054 chr6 33626497 33626497 G A rs149436819 ITPR3 Synonymous SNV P140P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.28 135055 chr5 68607011 68607011 A G rs143832565 CCDC125 Synonymous SNV T128T 0.004 0.008 0 5 5 3 0.013 0 0 0 0 0 7.082 135056 chr6 35705919 35705919 C T rs748309566 ARMC12 Synonymous SNV I93I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.4 135057 chr10 15145453 15145453 C T rs41284459 RPP38 Nonsynonymous SNV T47M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 135058 chr5 71740098 71740098 C T rs148129425 ZNF366 Nonsynonymous SNV A574T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.22 135059 chr6 90573367 90573367 G A rs139622677 CASP8AP2 Nonsynonymous SNV G647S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.685 135060 chr10 19435154 19435154 C G rs150497176 MALRD1 Nonsynonymous SNV S480W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.05 135061 chr6 99823854 99823854 G T rs770554438 COQ3 Nonsynonymous SNV L231I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 135062 chr5 140724124 140724124 A G rs147973403 PCDHGA3 Nonsynonymous SNV N175S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 135063 chr6 99924042 99924042 C T rs761475261 USP45 Nonsynonymous SNV A304T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 135064 chr10 19676686 19676686 A G MALRD1 Synonymous SNV T1557T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.596 135065 chr7 100228564 100228564 G A rs762731224 TFR2 Synonymous SNV T235T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.569 135066 chr10 21784761 21784761 G A rs137987115 MIR1915HG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 135067 chr5 76249503 76249503 G A rs78115247 CRHBP Synonymous SNV P53P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 18.8 135068 chr10 26518671 26518671 G A rs52834041 GAD2 Nonsynonymous SNV A269T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.1 135069 chr6 41704682 41704682 G C PGC Nonsynonymous SNV P359A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 135070 chr7 128505509 128505509 C T rs367963101 ATP6V1F Synonymous SNV D79D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 135071 chr5 79770584 79770584 C T rs775403366 ZFYVE16 Synonymous SNV L1466L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 135072 chr10 30657273 30657293 CTCTCCTCCCGCTCCCGCAGA - rs745365593 GOLGA2P6 0 0 0.02 0 0 0 0 6 0 0 2 0 135073 chr10 30748316 30748316 G A MAP3K8 Nonsynonymous SNV A387T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 135074 chr6 8015901 8015901 G A rs367984586 BLOC1S5 Nonsynonymous SNV A182V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 135075 chr6 83075638 83075638 G T rs374394173 TPBG Synonymous SNV R320R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.017 135076 chr5 82648973 82648973 C T rs374010254 XRCC4 Nonsynonymous SNV T308M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 135077 chr7 132169701 132169701 C T rs756974108 PLXNA4 Synonymous SNV A481A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.97 135078 chr10 34671584 34671584 G A rs141769427 PARD3 Nonsynonymous SNV S384L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.31 135079 chr10 35495901 35495901 C T rs52806860 CREM Nonsynonymous SNV S35L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Likely benign 29.4 135080 chr10 45473372 45473372 C A rs754609610 DEPP1 Nonsynonymous SNV S36I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 135081 chr8 69243566 69243566 C T C8orf34 Synonymous SNV L107L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 135082 chr7 141738362 141738362 C T rs113689539 MGAM Nonsynonymous SNV H755Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.63 135083 chr5 154311803 154311803 C T GEMIN5 Nonsynonymous SNV D173N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27 135084 chr5 154317607 154317607 G A rs143587993 GEMIN5 Synonymous SNV G29G 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Benign 12.86 135085 chr5 156535948 156535950 AGC - rs749353244 HAVCR2 L18del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 135086 chr6 49519158 49519158 G T rs376598045 C6orf141 Nonsynonymous SNV R218L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.25 135087 chr7 143826314 143826314 A T rs753163621 OR2A14 Nonsynonymous SNV T37S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.204 135088 chr10 50830155 50830155 C G rs78925077 CHAT Nonsynonymous SNV S119R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 21.5 135089 chr6 90422423 90422423 A G rs780187804 MDN1 Nonsynonymous SNV L2434P 0 0 0 1 0 0 0.003 0 0 0 0 0 29 135090 chr7 148979096 148979096 A G rs754765746 ZNF783 Nonsynonymous SNV M435V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.007 135091 chr7 149482796 149482796 G C rs143514105 SSPO 0.005 0.005 0.01 6 6 2 0.015 3 0 0 0 0 0.713 135092 chr5 168216567 168216567 C T rs755312911 SLIT3 Synonymous SNV S359S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.38 135093 chr7 149522165 149522165 G A rs117136255 SSPO 0.004 0 0 1 5 0 0.003 0 0 0 0 0 1.325 135094 chr5 169116285 169116285 G A DOCK2 Nonsynonymous SNV R264Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.78 135095 chr6 99825291 99825291 C T rs775701126 COQ3 Nonsynonymous SNV V153I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 135096 chr7 103236965 103236965 G T rs114684479 RELN Nonsynonymous SNV N1159K 0.007 0.003 0.003 0 8 1 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 23 135097 chr5 171627597 171627597 C T rs768660153 EFCAB9 Nonsynonymous SNV R105C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 135098 chr7 150698381 150698381 G T rs145811781 NOS3 Nonsynonymous SNV E432D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.4 135099 chr7 150270147 150270147 A T rs745345260 GIMAP4 X344L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.34 135100 chr7 150710817 150710817 C T rs138104564 NOS3 Synonymous SNV Y1087Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.8 135101 chr19 8564240 8564240 G A rs751379944 PRAM1 Nonsynonymous SNV A151V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.58 135102 chr5 176820765 176820765 G A rs200095793 SLC34A1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 135103 chr6 126210901 126210901 G A rs750602138 NCOA7 Synonymous SNV A452A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.833 135104 chr7 121676657 121676657 A G PTPRZ1 Nonsynonymous SNV D896G 0 0 0 0 0 0 0 0 0 0 0 0 33 135105 chr6 128330404 128330404 G A PTPRK Nonsynonymous SNV T606I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 135106 chr7 158448120 158448120 G T rs750885086 NCAPG2 Nonsynonymous SNV P806T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.084 135107 chr10 75410700 75410700 G T SYNPO2L Nonsynonymous SNV D22E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 135108 chr7 16736551 16736551 T C rs138481307 BZW2 Synonymous SNV Y84Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.618 135109 chr10 75599353 75599353 C T CAMK2G Nonsynonymous SNV R236K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 135110 chr5 179739488 179739488 G A GFPT2 Synonymous SNV D496D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.541 135111 chr7 18631186 18631186 C T rs34096894 HDAC9 Synonymous SNV L121L 0.008 0.008 0.017 7 9 3 0.018 5 0 0 0 0 15.06 135112 chr7 100680228 100680228 C A rs201645131 MUC17 Nonsynonymous SNV A1844E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 1.149 135113 chr7 100680231 100680231 T G rs199908256 MUC17 Nonsynonymous SNV V1845G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.001 135114 chr7 100680234 100680234 G C rs139561019 MUC17 Nonsynonymous SNV S1846T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.017 135115 chr10 7618556 7618556 C T rs148811531 ITIH5 Nonsynonymous SNV R399H 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 Likely benign 6.289 135116 chr7 100680243 100680243 C T rs202220584 MUC17 Nonsynonymous SNV P1849L 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 17.38 135117 chr7 128413751 128413751 C A rs761251666 OPN1SW Nonsynonymous SNV K293N 0.007 0.018 0 1 8 7 0.003 0 0 0 0 0 24.9 135118 chr10 79814542 79814542 T C RPS24 Nonsynonymous SNV L215P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.711 135119 chr5 24535323 24535323 G C rs764663767 CDH10 Nonsynonymous SNV Q238E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 135120 chr7 133821836 133821836 C T rs200351099 LRGUK Nonsynonymous SNV R120C 0 0.005 0 0 0 2 0 0 0 0 0 0 29.7 135121 chr7 107824934 107824934 G A NRCAM Synonymous SNV R685R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.395 135122 chr7 100282385 100282385 G C rs369306558 GIGYF1 Nonsynonymous SNV R475G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.42 135123 chr7 100490982 100490982 C T rs142818130 ACHE Nonsynonymous SNV G291D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.844 135124 chr6 150001033 150001033 G A rs9505965 LATS1 Synonymous SNV H577H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.53 135125 chr10 94834789 94834789 C T rs928966526 CYP26A1 Nonsynonymous SNV S223L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 135126 chr7 139717626 139717626 A T rs200663004 TBXAS1 Nonsynonymous SNV E446V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 26.7 135127 chr5 37052560 37052560 C T rs772030142 NIPBL Synonymous SNV D2385D 0.003 0 0 0 3 0 0 0 0 0 0 0 17.08 135128 chr5 39382991 39382991 T C DAB2 Nonsynonymous SNV Q336R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.626 135129 chr9 125273104 125273104 C T rs778720324 OR1J2 Synonymous SNV S8S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 16.96 135130 chr7 100693864 100693864 - A rs767855297 MUC17 Frameshift insertion I4276Nfs*12 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 135131 chr10 97772484 97772484 T C CC2D2B Nonsynonymous SNV F106L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 135132 chr6 15496884 15496884 C T rs770570459 JARID2 Synonymous SNV A304A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.44 135133 chr6 155154342 155154342 A G rs140989501 SCAF8 Nonsynonymous SNV N1210S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.742 135134 chr7 103061825 103061825 A G rs141952919 SLC26A5 Nonsynonymous SNV L46P 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 Benign/Likely benign 29.3 135135 chr7 42004666 42004666 C T rs149860242 GLI3 Synonymous SNV P1335P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 11.35 135136 chr7 42065847 42065847 G A rs529978440 GLI3 Nonsynonymous SNV T398M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.8 135137 chr7 143078842 143078842 G A rs576083969 ZYX Nonsynonymous SNV V60M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 135138 chr7 128846367 128846367 G C rs117663825 SMO Synonymous SNV A401A 0.007 0.013 0.003 2 8 5 0.005 1 0 1 0 0 Benign 10.36 135139 chr19 10823695 10823695 G A rs201592010 QTRT1 Synonymous SNV T346T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.36 135140 chr9 125562816 125562816 C T rs763886857 OR1K1 Nonsynonymous SNV R139W 0.006 0.005 0 0 7 2 0 0 0 0 0 0 15.85 135141 chr11 1010598 1010598 A G rs776777794 AP2A2 Synonymous SNV L932L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.806 135142 chr19 11364335 11364335 G A rs369491468 DOCK6 Nonsynonymous SNV R38C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.2 135143 chr19 12430122 12430122 G T rs772941521 ZNF563 Nonsynonymous SNV P200H 0 0 0 2 0 0 0.005 0 0 0 0 0 6.586 135144 chr19 12691497 12691497 G A rs140620156 ZNF490 Synonymous SNV H464H 0 0.005 0 4 0 2 0.01 0 0 0 0 0 11.06 135145 chr7 47859242 47859242 A - rs760223777 C7orf69 0.001 0 0 0 1 0 0 0 0 0 0 0 135146 chr19 14000591 14000591 C T rs148917583 C19orf57 Nonsynonymous SNV D242N 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 2.435 135147 chr7 44575990 44575990 C T rs780396422 NPC1L1 Synonymous SNV T573T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.66 135148 chr19 14593756 14593756 C T rs762365095 GIPC1 Synonymous SNV A11A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 17.6 135149 chr7 138602603 138602603 G A rs144262582 KIAA1549 Nonsynonymous SNV T590M 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.734 135150 chr7 139737621 139737621 G A rs775645593 PARP12 Synonymous SNV S406S 0.005 0 0 0 6 0 0 0 0 0 0 0 9.529 135151 chr7 139796755 139796755 C T rs202162304 KDM7A Nonsynonymous SNV M703I 0.004 0 0 0 5 0 0 0 0 0 0 0 10.63 135152 chr9 131763938 131763938 G A rs41316500 NUP188 Nonsynonymous SNV R1325H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 34 135153 chr9 132381914 132381914 C T rs141573674 C9orf50 Nonsynonymous SNV G201S 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 20.6 135154 chr7 100776989 100776989 G A rs764294088 SERPINE1 Synonymous SNV T238T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.96 135155 chr7 102112924 102112924 A G rs367887639 LRWD1 Nonsynonymous SNV T368A 0.003 0 0 0 3 0 0 0 0 0 0 0 18.46 135156 chr7 143095425 143095425 C T rs144470322 EPHA1 Nonsynonymous SNV V485M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 135157 chr7 158528253 158528253 C A rs139531934 ESYT2 Nonsynonymous SNV D795Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 135158 chr7 102978240 102978240 C T rs780001663 DNAJC2 Nonsynonymous SNV V92I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 135159 chr11 103349893 103349893 G T DYNC2H1 Nonsynonymous SNV R4279L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 135160 chr9 134067615 134067615 G C NUP214 Nonsynonymous SNV A25P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.686 135161 chr11 104879547 104879547 C T rs752221620 CASP5 Synonymous SNV S69S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 135162 chr6 24588960 24588960 G A rs200210898 KIAA0319 Synonymous SNV V240V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.248 135163 chr7 50513244 50513244 A G rs200453649 FIGNL1 Nonsynonymous SNV M581T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.9 135164 chr11 107375703 107375703 C T rs139390837 ALKBH8 Nonsynonymous SNV R562H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.4 135165 chr7 148951262 148951262 C T ZNF212 Nonsynonymous SNV P415L 0.004 0 0 0 5 0 0 0 0 0 0 0 17.5 135166 chr7 149462317 149462317 G A rs77749341 ZNF467 Nonsynonymous SNV P425L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.99 135167 chr6 26017810 26017810 C A H1-1 Nonsynonymous SNV A51S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 135168 chr7 149477057 149477057 G T rs183038369 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 8.419 135169 chr11 108277841 108277841 C T C11orf65 Synonymous SNV V39V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 135170 chr7 21789931 21789931 C T rs777097347 DNAH11 Synonymous SNV S2963S 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 13.98 135171 chr11 108547831 108547831 G A rs368093274 DDX10 Nonsynonymous SNV R133H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 135172 chr6 26156758 26156758 C T rs141942142 HIST1H1E Nonsynonymous SNV A47V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 23.7 135173 chr7 149525728 149525728 C T rs73727646 SSPO 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.52 135174 chr7 138603172 138603172 G A rs372716380 KIAA1549 Synonymous SNV P400P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.491 135175 chr6 26408131 26408131 C T rs140260146 BTN3A1 Synonymous SNV I170I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 135176 chr7 122342723 122342723 T C rs377719800 RNF148 Nonsynonymous SNV S28G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.119 135177 chr11 113614711 113614711 C A rs200000547 ZW10 Nonsynonymous SNV D442Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 135178 chr7 64452950 64452950 G A rs752139181 ERV3-1 Nonsynonymous SNV A152V 0.004 0 0 0 5 0 0 0 0 0 0 0 0.012 135179 chr7 150671838 150671838 C T rs777810074 KCNH2 Nonsynonymous SNV E90K 0.005 0 0 0 6 0 0 0 0 0 0 0 32 135180 chr5 86697547 86697547 G C rs750525738 CCNH Nonsynonymous SNV C191W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.1 135181 chr7 72951640 72951640 C G rs142166738 BCL7B Synonymous SNV A142A 0.004 0 0.01 2 5 0 0.005 3 0 0 0 0 7.437 135182 chr7 151073815 151073815 C T rs749991383 NUB1 Synonymous SNV N553N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.82 135183 chr7 151082294 151082294 C T rs201559645 WDR86 Nonsynonymous SNV R269H 0.005 0 0 0 6 0 0 0 0 0 0 0 15.36 135184 chr9 139264772 139264772 G A rs535051926 CARD9 Nonsynonymous SNV R309C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 32 135185 chr7 77797309 77797309 A G rs775941870 MAGI2 Synonymous SNV Y826Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.065 135186 chr11 117278677 117278677 C T rs557730163 CEP164 Nonsynonymous SNV R1183W 0 0 0.003 0 0 0 0 1 0 0 0 0 24 135187 chr9 139395136 139395136 C T NOTCH1 Synonymous SNV L1934L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.34 135188 chr7 82763982 82763982 C T rs199875203 PCLO Nonsynonymous SNV A962T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.97 135189 chr7 157396706 157396706 G A rs1011735443 PTPRN2 Synonymous SNV N764N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.28 135190 chr7 193436 193436 C G FAM20C Nonsynonymous SNV D79E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 135191 chr7 40132588 40132588 C T rs150637197 CDK13 Nonsynonymous SNV T1147I 0 0.005 0 0 0 2 0 0 0 0 0 0 23 135192 chr7 91503329 91503329 C T rs530927148 MTERF1 Nonsynonymous SNV R240Q 0.003 0 0 0 4 0 0 0 0 0 0 0 16.76 135193 chr6 34827203 34827203 A G rs201464075 UHRF1BP1 Nonsynonymous SNV M1024V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.602 135194 chr7 132192810 132192810 C T rs142904267 PLXNA4 Nonsynonymous SNV A215T 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 23.5 135195 chr19 21132126 21132126 G A rs140775014 ZNF85 Nonsynonymous SNV R205Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.182 135196 chr7 134882826 134882826 G A rs769342893 WDR91 Synonymous SNV S323S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.83 135197 chr6 100841694 100841694 G A rs753646947 SIM1 Synonymous SNV D413D 0.003 0 0 0 3 0 0 0 0 0 0 0 7.381 135198 chr7 135286186 135286186 A G rs773810419 NUP205 Nonsynonymous SNV M457V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.37 135199 chr9 140355128 140355128 G A rs141046571 PNPLA7 Synonymous SNV Y1276Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.939 135200 chr19 23543138 23543138 A C rs201345755 ZNF91 Synonymous SNV P849P 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 0.002 135201 chr9 140508913 140508913 G A rs752265461 ARRDC1 Nonsynonymous SNV D261N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 135202 chr7 151093212 151093212 T C rs200781442 WDR86 Nonsynonymous SNV K126E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 135203 chr19 24310449 24310449 A G rs138077669 ZNF254 Synonymous SNV E464E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.077 135204 chr11 123909494 123909494 G A OR10G7 Nonsynonymous SNV S72F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 135205 chr11 124007736 124007736 G A rs80346420 VWA5A Nonsynonymous SNV R547H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 135206 chr6 39856489 39856489 A G rs61757199 DAAM2 Nonsynonymous SNV I699V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.54 135207 chr7 140482955 140482955 A G rs923739321 BRAF Nonsynonymous SNV S394P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.2 135208 chr7 30793482 30793482 G A rs764793986 INMT Stop gain W96X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 37 135209 chr7 98247133 98247133 C T rs750266331 NPTX2 Synonymous SNV P120P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.7 135210 chr8 10467917 10467917 G A rs201440296 RP1L1 Nonsynonymous SNV P1231S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 0.051 135211 chr6 43017190 43017190 C T rs141065679 CUL7 Nonsynonymous SNV A678T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 7.425 135212 chr8 105463479 105463479 C T rs370968463 DPYS Nonsynonymous SNV D140N 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 24.7 135213 chr19 35801492 35801492 T G rs200859403 MAG Nonsynonymous SNV V496G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 135214 chr8 107719043 107719043 G C rs748995600 OXR1 Nonsynonymous SNV G425R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.741 135215 chr7 33573730 33573730 A G rs762349740 BBS9 Synonymous SNV K664K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.019 135216 chr11 126126612 126126612 G A rs568632862 FAM118B Nonsynonymous SNV V283I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 135217 chr7 143772205 143772205 G C rs150935125 OR2A25 Nonsynonymous SNV G298A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.683 135218 chr19 36018486 36018486 C G rs755031709 SBSN Nonsynonymous SNV G233A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 135219 chr7 6054834 6054834 C T rs140850823 AIMP2 Nonsynonymous SNV R25C 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 26.7 135220 chr7 6063209 6063209 G A rs759973375 AIMP2 Nonsynonymous SNV V215I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 135221 chr6 127608575 127608575 C T rs551331305 RNF146 Nonsynonymous SNV P273S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.314 135222 chr9 35741821 35741821 T C GBA2 Nonsynonymous SNV S212G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.77 135223 chr9 35800783 35800783 T C rs371424072 NPR2 Synonymous SNV P432P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.496 135224 chr11 130341270 130341270 C G rs754813190 ADAMTS15 Synonymous SNV T690T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 135225 chr8 11405588 11405588 C G rs149393791 BLK Nonsynonymous SNV R4G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 12.64 135226 chr11 134253804 134253804 C T rs35434644 B3GAT1 Nonsynonymous SNV A131T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 14.72 135227 chr9 37735698 37735698 G A rs56069880 FRMPD1 Synonymous SNV V456V 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 10.78 135228 chr7 44096439 44096439 T G rs149657924 DBNL Synonymous SNV G34G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.14 135229 chr19 37210223 37210223 G C rs187761761 ZNF567 Nonsynonymous SNV Q168H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.024 135230 chr7 44161451 44161451 G A rs772234118 POLD2 Nonsynonymous SNV R68W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 135231 chr7 150706621 150706621 G A rs137919476 NOS3 Synonymous SNV P820P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign 14.44 135232 chr9 6645302 6645302 C T rs759592782 GLDC Synonymous SNV R66R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.07 135233 chr9 6645303 6645303 C T rs765794334 GLDC Nonsynonymous SNV R66K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.6 135234 chr8 11058468 11058468 G A XKR6 Synonymous SNV L127L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.74 135235 chr6 52103547 52103547 T G rs376671742 IL17F Nonsynonymous SNV T79P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 135236 chr7 36459072 36459072 G A ANLN Nonsynonymous SNV G581D 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 27.5 135237 chr8 125555509 125555509 G A rs773659445 NDUFB9 Nonsynonymous SNV D39N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 135238 chr11 19077223 19077223 A G rs150365137 MRGPRX2 Nonsynonymous SNV W243R 0.004 0.005 0.007 3 5 2 0.008 2 0 0 0 0 2.157 135239 chr6 146275883 146275883 T C rs372554285 SHPRH Synonymous SNV L192L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.036 135240 chr7 82578887 82578887 T C PCLO Nonsynonymous SNV K3673E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.71 135241 chr19 38380808 38380808 A G rs187320662 WDR87 Nonsynonymous SNV I1168T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.006 135242 chr7 17841269 17841269 A G rs61755315 SNX13 Nonsynonymous SNV I758T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 135243 chr7 86986890 86986890 G A rs575091816 CROT Synonymous SNV T61T 0.001 0.013 0 1 1 5 0.003 0 0 0 0 0 5.637 135244 chr19 39191670 39191670 G T rs776245124 ACTN4 Synonymous SNV G102G 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 11.26 135245 chr7 20687233 20687233 C G rs150279505 ABCB5 Nonsynonymous SNV R353G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 135246 chr7 4900316 4900316 T C rs768958589 PAPOLB Nonsynonymous SNV I376V 0.006 0 0 0 7 0 0 0 0 0 0 0 21 135247 chr8 127569466 127569466 C G LRATD2 Nonsynonymous SNV G57R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.96 135248 chr6 70610210 70610210 A C COL19A1 Synonymous SNV A82A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.057 135249 chr9 80537102 80537102 A T GNAQ Nonsynonymous SNV I99N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 135250 chr6 70859887 70859887 G A rs374739394 COL19A1 Nonsynonymous SNV V663I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.64 135251 chr8 133036748 133036748 C T rs746236844 OC90 Nonsynonymous SNV G472R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.771 135252 chr7 5428014 5428014 C A rs771991498 TNRC18 Nonsynonymous SNV G481C 0.003 0 0 0 3 0 0 0 0 0 0 0 17 135253 chr9 88247586 88247586 C A AGTPBP1 Nonsynonymous SNV G721V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.6 135254 chr9 90254331 90254331 T C rs56314733 DAPK1 Synonymous SNV F162F 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 6.058 135255 chr7 97846721 97846721 T C TECPR1 Nonsynonymous SNV H1160R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 135256 chr7 6072492 6072492 T C ANKRD61 Nonsynonymous SNV I80T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 135257 chr11 292021 292021 G A rs200801270 PGGHG Nonsynonymous SNV A318T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.9 135258 chr9 95177598 95177598 T C rs35709442 OMD Nonsynonymous SNV T368A 0.011 0 0.003 1 13 0 0.003 1 0 0 0 0 6.854 135259 chr7 27195887 27195887 C T rs762960362 HOXA7 Nonsynonymous SNV C93Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 135260 chr7 99226981 99226981 C G rs10239632 ZSCAN25 Nonsynonymous SNV P325A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.001 135261 chr7 99262835 99262835 C T rs10264272 CYP3A5 Synonymous SNV K208K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.935 135262 chr9 95997190 95997190 G A rs376389884 WNK2 Synonymous SNV S392S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 135263 chr7 48559859 48559859 C G ABCA13 Nonsynonymous SNV L4674V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.4 135264 chr6 76623854 76623854 C T rs752568854 MYO6 Nonsynonymous SNV R1140C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 135265 chr11 33566733 33566733 C T rs777116459 KIAA1549L Nonsynonymous SNV T1065M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 135266 chr6 80816473 80816473 G T rs368345065 BCKDHB Synonymous SNV G21G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.205 135267 chr7 53104039 53104039 G T POM121L12 Synonymous SNV A225A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 6.673 135268 chr9 990376 990376 C A DMRT3 Nonsynonymous SNV P264T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 135269 chr11 35344107 35344107 C T rs56205617 SLC1A2 0 0 0.051 0 0 0 0 15 0 0 1 0 3.035 135270 chr6 86201722 86201722 G A rs201008460 NT5E Nonsynonymous SNV R413Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 135271 chr6 86328598 86328598 G C rs767889103 SYNCRIP Synonymous SNV A308A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.434 135272 chr8 144732453 144732453 C T rs201943513 ZNF623 Synonymous SNV D137D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.14 135273 chrX 107430391 107430391 C T rs148929548 COL4A6 Nonsynonymous SNV R629H 0.004 0.003 0 0 5 1 0 0 2 0 0 0 Likely benign 24.4 135274 chr6 89793741 89793741 A G rs113428135 PNRC1 Synonymous SNV L270L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.268 135275 chr7 76019578 76019578 A G rs749470845 SSC4D Nonsynonymous SNV V509A 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 135276 chr11 44286659 44286659 C T rs367915603 ALX4 Synonymous SNV P327P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 135277 chr8 145112222 145112222 G A rs374935079 OPLAH Nonsynonymous SNV A475V 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Uncertain significance 26.6 135278 chr7 43484858 43484858 C T rs374384580 HECW1 Nonsynonymous SNV S696L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 135279 chr6 99374804 99374804 G A rs369518305 FBXL4 Nonsynonymous SNV R21C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 33 135280 chr6 168366566 168366566 G C AFDN Nonsynonymous SNV E1650Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 15.47 135281 chr7 73255492 73255492 C T rs141688562 METTL27 Nonsynonymous SNV A54T 0.003 0.008 0 5 4 3 0.013 0 0 0 0 0 11.75 135282 chr8 110099864 110099864 A G rs5775 TRHR Synonymous SNV V41V 0.009 0.008 0 0 11 3 0 0 0 0 0 0 Benign 2.024 135283 chr7 100084568 100084568 G A NYAP1 Nonsynonymous SNV A65T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 135284 chr7 100160224 100160224 G A rs371963111 AGFG2 Nonsynonymous SNV G336R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 135285 chr6 170667319 170667319 C T rs41269639 FAM120B Synonymous SNV D64D 0.012 0.003 0.01 3 14 1 0.008 3 0 0 0 0 13.95 135286 chr8 110456989 110456989 G A rs146630772 PKHD1L1 Nonsynonymous SNV E1631K 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 16.79 135287 chr7 75211393 75211393 G A rs148290305 HIP1 Synonymous SNV N180N 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign 15.22 135288 chr7 83758481 83758481 G A SEMA3A Synonymous SNV Y97Y 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 8.403 135289 chr11 46750998 46750998 A G rs144011338 F2 Nonsynonymous SNV N514S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 135290 chr7 45928591 45928591 C G rs41258845 IGFBP1 Nonsynonymous SNV H114D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.01 135291 chr8 1496924 1496924 C T rs200906543 DLGAP2 Nonsynonymous SNV A102V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 18.81 135292 chrX 153047018 153047018 C G rs56395839 SRPK3 Synonymous SNV R83R 0.006 0 0 0 7 0 0 0 2 0 0 0 10.83 135293 chr8 1645426 1645426 G C rs142972461 DLGAP2 Synonymous SNV R970R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.624 135294 chr7 87072677 87072677 C T rs45624933 ABCB4 Synonymous SNV T438T 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign/Likely benign 16.47 135295 chr7 4821362 4821362 G C rs760484894 AP5Z1 Nonsynonymous SNV V115L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.83 135296 chr8 17793163 17793163 A C rs567306227 PCM1 Nonsynonymous SNV Q15P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.2 135297 chr11 48328638 48328638 G A rs147418507 OR4S1 Synonymous SNV R288R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.167 135298 chr8 126040886 126040886 A C WASHC5 Synonymous SNV V985V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.425 135299 chr8 1814745 1814745 C T rs774640644 ARHGEF10 Nonsynonymous SNV P201L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 29.1 135300 chr6 28219549 28219549 C G rs149528071 ZKSCAN4 Synonymous SNV A70A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.69 135301 chr7 95157533 95157533 G A rs185867484 ASB4 Nonsynonymous SNV R299H 0.002 0.005 0.007 0 2 2 0 2 0 1 0 0 27.6 135302 chr8 1905222 1905222 A G rs146227529 ARHGEF10 Synonymous SNV S1238S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 0.022 135303 chr7 99706110 99706110 G A rs200398416 TAF6 Synonymous SNV D483D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.831 135304 chr7 99691889 99691889 G A rs762734756 MCM7 Synonymous SNV Y409Y 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 2.919 135305 chr8 101276385 101276385 C T rs767726348 RNF19A Nonsynonymous SNV V449I 0.008 0.003 0 2 9 1 0.005 0 0 0 0 1 33 135306 chr8 135612743 135612743 C T rs746340995 ZFAT Nonsynonymous SNV G742D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 135307 chr8 22137049 22137049 A G rs142118511 PIWIL2 Synonymous SNV V50V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.887 135308 chr8 140998947 140998947 C T rs114949291 TRAPPC9 Nonsynonymous SNV G924S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 135309 chrX 49854900 49854900 G A rs781948493 CLCN5 Synonymous SNV R554R 0.003 0 0 0 4 0 0 0 2 0 0 0 Uncertain significance 5.482 135310 chr8 144406707 144406707 C T TOP1MT Nonsynonymous SNV S157N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 135311 chr6 34850810 34850810 G A rs200171657 TAF11 Synonymous SNV D73D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.915 135312 chr7 72992754 72992754 G T rs10225949 TBL2 Synonymous SNV P42P 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 8.679 135313 chr8 21608319 21608319 G T GFRA2 Nonsynonymous SNV T59N 0.003 0 0 0 4 0 0 0 0 0 0 0 3.534 135314 chr8 22020118 22020118 G A SFTPC Nonsynonymous SNV G25D 0.003 0 0 0 4 0 0 0 0 0 0 0 11.2 135315 chr8 124383522 124383522 C T rs200021152 ATAD2 Nonsynonymous SNV R198Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 135316 chr8 22023038 22023038 C T rs772658585 BMP1 Synonymous SNV P40P 0.004 0 0 0 5 0 0 0 0 0 0 0 14.65 135317 chr8 144903797 144903797 C G rs371840385 PUF60 Synonymous SNV A60A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.47 135318 chr7 7712942 7712965 AGCAGCAGCAGCAGCAGCAGCAGC - UMAD1 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 135319 chr7 1040184 1040184 C T C7orf50 Stop gain W109X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 135320 chr6 38560449 38560449 C T rs41303370 BTBD9 Synonymous SNV V180V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 13.09 135321 chr6 38805753 38805753 G A rs45622336 DNAH8 Synonymous SNV T1250T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 8.163 135322 chr7 105656377 105656377 C T rs202005767 CDHR3 Synonymous SNV N356N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.79 135323 chr6 38905962 38905962 T C rs148084212 DNAH8 Synonymous SNV L3709L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.027 135324 chr11 5443730 5443730 T C rs79683057 OR51Q1 Synonymous SNV F100F 0 0 0.01 0 0 0 0 3 0 0 0 0 0.098 135325 chr7 82580048 82580048 A G rs749093553 PCLO Synonymous SNV L3286L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 1.622 135326 chr7 82785014 82785014 G C rs61744447 PCLO Nonsynonymous SNV P315A 0.012 0.005 0.007 4 14 2 0.01 2 1 0 0 0 Benign 1.118 135327 chr8 145616063 145616063 C A ADCK5 Nonsynonymous SNV P117Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.25 135328 chr8 35425630 35425630 G A rs151297319 UNC5D Nonsynonymous SNV E108K 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 33 135329 chr8 26481697 26481697 G A rs2228979 DPYSL2 Nonsynonymous SNV A223T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.044 135330 chr6 42996838 42996838 C T rs140316056 RRP36 Nonsynonymous SNV R213C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 135331 chr6 43275378 43275378 T C rs998542868 CRIP3 Synonymous SNV P100P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.81 135332 chr8 30651577 30651577 C G rs149865152 PPP2CB Synonymous SNV L198L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.05 135333 chr6 43400472 43400472 C G rs369322714 ABCC10 Nonsynonymous SNV H209D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.199 135334 chr7 99261610 99261610 C T rs376773432 CYP3A5 Nonsynonymous SNV R260H 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 135335 chr7 128483879 128483879 C T rs547060988 FLNC Synonymous SNV G947G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.12 135336 chr7 129046296 129046296 C T rs202036893 AHCYL2 Synonymous SNV A427A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.13 135337 chr7 132193340 132193340 C T rs201571349 PLXNA4 Nonsynonymous SNV R38Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.037 135338 chr8 80976814 80976814 C A rs35099105 TPD52 Nonsynonymous SNV D52Y 0.009 0.008 0.02 6 10 3 0.015 6 0 0 0 0 33 135339 chr8 57354365 57354365 C T rs112775720 PENK Synonymous SNV P90P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.205 135340 chr8 10480409 10480409 G A RP1L1 Synonymous SNV C101C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 3.775 135341 chr6 52143549 52143549 G A rs769973730 MCM3 Synonymous SNV T244T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 11.82 135342 chr6 52368034 52368034 G A rs116741997 TRAM2 Synonymous SNV N358N 0.008 0 0 0 9 0 0 0 0 0 0 0 11.97 135343 chr11 57513551 57513551 C T rs576891132 BTBD18 Nonsynonymous SNV R65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 135344 chr7 141831413 141831413 C T MGAM2 Nonsynonymous SNV R136W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 135345 chr8 145164258 145164258 G T rs763829858 WDR97 Nonsynonymous SNV V341L 0.003 0 0 0 4 0 0 0 0 0 0 0 6.751 135346 chr8 75272472 75272472 A G GDAP1 Synonymous SNV T28T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.141 135347 chr8 145255429 145255429 G A rs559252127 MROH1 Nonsynonymous SNV V376I 0.004 0 0 0 5 0 0 0 0 0 0 0 0.077 135348 chr8 30938513 30938513 A G rs1800390 WRN Nonsynonymous SNV T324A 0.014 0.018 0.017 4 16 7 0.01 5 0 0 0 0 Benign/Likely benign 0.016 135349 chr8 33354247 33354247 T C rs149061391 MAK16 Synonymous SNV D209D 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 2.294 135350 chr9 104341613 104341613 A C rs79786742 GRIN3A Synonymous SNV S932S 0.009 0.013 0.01 1 10 5 0.003 3 0 0 0 0 0.357 135351 chr11 58978608 58978608 G A rs200428005 MPEG1 Synonymous SNV C577C 0 0 0.007 0 0 0 0 2 0 0 0 0 0.069 135352 chr8 124392852 124392852 T C rs377724460 ATAD2 Synonymous SNV K79K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.069 135353 chr6 7230950 7230950 G T rs765858464 RREB1 Nonsynonymous SNV G873V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 14.5 135354 chr8 124801954 124801954 G A rs76510900 FAM91A1 Synonymous SNV A218A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.778 135355 chr8 39018484 39018484 G A rs769256281 ADAM32 Synonymous SNV L205L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 13.31 135356 chr8 95264446 95264446 T C rs144483271 GEM Synonymous SNV E138E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.141 135357 chr8 95541459 95541459 A C rs76706433 VIRMA Nonsynonymous SNV V240G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 13.14 135358 chr8 39550169 39550169 T C rs759549713 ADAM18 Synonymous SNV C600C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.005 135359 chr7 148963478 148963478 C T rs201412647 ZNF783 Nonsynonymous SNV P26L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 135360 chr8 146108179 146108179 G A rs749726284 ZNF250 Nonsynonymous SNV P114L 0.003 0 0 0 4 0 0 0 0 0 0 0 6.63 135361 chr11 59516459 59516459 T C rs507235 OR10V2P 0 0 0.02 0 0 0 0 6 0 0 1 0 3.167 135362 chr11 59516464 59516464 G A rs497596 OR10V2P 0 0 0.017 0 0 0 0 5 0 0 1 0 2.604 135363 chr8 130764364 130764364 C G rs373573200 GSDMC Nonsynonymous SNV G292R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 5.618 135364 chr11 60268570 60268570 G A rs151260783 MS4A12 Nonsynonymous SNV C110Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 135365 chr7 150493503 150493503 T A rs140393291 TMEM176B Nonsynonymous SNV D52V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 135366 chr11 60567358 60567358 G A rs149928197 MS4A10 Synonymous SNV A260A 0 0 0.01 0 0 0 0 3 0 0 0 0 8.273 135367 chr11 60610100 60610100 A C rs114409171 CCDC86 Nonsynonymous SNV Q168P 0 0 0.01 0 0 0 0 3 0 0 0 0 5.722 135368 chr11 60666070 60666070 G A rs7933251 PRPF19 Synonymous SNV D361D 0.001 0 0.017 2 1 0 0.005 5 0 0 1 0 11.45 135369 chr11 60689320 60689320 C T rs34881294 TMEM109 Synonymous SNV L139L 0.001 0 0.017 2 1 0 0.005 5 0 0 1 0 13.34 135370 chr19 56733399 56733399 C T rs929236830 ZSCAN5A Nonsynonymous SNV D229N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.464 135371 chr19 56733400 56733400 C G rs765875730 ZSCAN5A Synonymous SNV P228P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 2.145 135372 chr11 60703542 60703542 C A rs111231672 TMEM132A Synonymous SNV P746P 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 Benign 14.04 135373 chr8 61654552 61654552 G A rs181083503 CHD7 Synonymous SNV Q187Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.179 135374 chr11 60711251 60711251 G A rs61744893 SLC15A3 Synonymous SNV S302S 0.001 0 0.017 2 1 0 0.005 5 0 0 1 0 6.634 135375 chr19 57050430 57050430 C T rs189847863 ZFP28 Nonsynonymous SNV L15F 0.009 0 0 2 10 0 0.005 0 0 0 0 0 9.46 135376 chr9 104124833 104124833 G A rs118089324 BAAT Synonymous SNV H378H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.78 135377 chr7 1527511 1527511 G T rs201096577 INTS1 Synonymous SNV R801R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 135378 chr11 60886423 60886423 C T rs139537878 CD5 Nonsynonymous SNV P89L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.21 135379 chr7 1527512 1527512 C T rs202228703 INTS1 Synonymous SNV Q800Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 135380 chr9 1056870 1056870 C T rs41311430 DMRT2 Nonsynonymous SNV A254V 0.015 0.013 0.017 4 18 5 0.01 5 0 0 0 0 32 135381 chr7 155301694 155301696 CTT - rs751520697 CNPY1 K13del 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 135382 chr9 116811184 116811184 G A rs7852282 ZNF618 Synonymous SNV K501K 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 4.923 135383 chr8 23104265 23104265 T C rs781718333 CHMP7 Synonymous SNV L19L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.512 135384 chr11 62334430 62334430 C T rs374645303 EEF1G Synonymous SNV K235K 0 0 0.007 0 0 0 0 2 0 0 0 0 14.68 135385 chr19 58441897 58441897 G A rs199542837 ZNF418 Nonsynonymous SNV A11V 0.003 0 0 4 3 0 0.01 0 0 0 0 0 23.6 135386 chr7 20198203 20198203 A T MACC1 Nonsynonymous SNV V594E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 135387 chr7 20198232 20198232 A T MACC1 Synonymous SNV G584G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 135388 chr8 144296991 144296991 C T rs138215873 GPIHBP1 Synonymous SNV H95H 0.009 0.005 0.003 4 10 2 0.01 1 0 0 0 0 Benign 11.99 135389 chr8 81555314 81555314 C T rs527717681 ZNF704 Synonymous SNV A361A 0 0.005 0 0 0 2 0 0 0 0 0 0 14.73 135390 chr7 21470259 21470259 A G rs150866615 SP4 Synonymous SNV Q475Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.324 135391 chr9 113170289 113170289 C T rs143931457 SVEP1 Nonsynonymous SNV E2531K 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 2.433 135392 chr8 144620891 144620891 G A rs139064874 ZC3H3 Nonsynonymous SNV R216C 0.006 0 0 3 7 0 0.008 0 0 0 0 0 22.4 135393 chr9 118982353 118982353 A G rs35578777 PAPPA Nonsynonymous SNV T686A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 135394 chr11 64027666 64027666 A C rs117874826 PLCB3 Nonsynonymous SNV E497A 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 21.3 135395 chr9 124118418 124118418 G C rs141204528 STOM Synonymous SNV G26G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.168 135396 chr9 125154703 125154703 G A rs199581775 PTGS1 Synonymous SNV T512T 0.003 0 0 0 3 0 0 0 0 0 0 0 14.33 135397 chr8 96059331 96059331 C G rs199955582 NDUFAF6 Nonsynonymous SNV F119L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Uncertain significance 15.08 135398 chr11 64217397 64217397 G C rs546599395 LINC02724 0 0 0.007 0 0 0 0 2 0 0 0 0 0.033 135399 chr11 64367195 64367195 C T rs773056120 SLC22A12 Nonsynonymous SNV A265V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 135400 chr9 117051029 117051029 G A rs151004313 COL27A1 Synonymous SNV G1364G 0.004 0 0 0 5 0 0 0 0 0 0 0 10.46 135401 chr8 37702445 37702445 G A rs144553072 BRF2 Nonsynonymous SNV R275W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 33 135402 chr9 127563860 127563860 C T rs374490177 OLFML2A Synonymous SNV R65R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.66 135403 chr9 128509830 128509830 G T rs747340090 PBX3 Nonsynonymous SNV G33V 0.005 0 0 0 6 0 0 0 0 0 0 0 16.02 135404 chr11 65545746 65545746 C T rs772828750 AP5B1 Nonsynonymous SNV V740I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.289 135405 chr9 130480001 130480001 C T rs775157778 TTC16 Stop gain Q113X 0.002 0 0 3 2 0 0.008 0 0 0 0 0 34 135406 chr7 36396735 36396735 G C rs199774798 KIAA0895 Nonsynonymous SNV P164A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 135407 chr9 130913979 130913979 C T rs150975968 LCN2 Nonsynonymous SNV T113M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.86 135408 chr9 107558399 107558399 C T rs370103164 ABCA1 Nonsynonymous SNV V1773M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 135409 chr8 59502105 59502105 C T rs996993090 NSMAF Nonsynonymous SNV R737H 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 135410 chr20 6750892 6750892 G C BMP2 Nonsynonymous SNV R40P 0 0 0 2 0 0 0.005 0 0 0 0 0 19.06 135411 chr8 6783521 6783521 C T rs555539313 DEFA6 Nonsynonymous SNV V13M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.5 135412 chr11 67225108 67225108 G A rs757905556 CABP4 Synonymous SNV T97T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 135413 chr1 40768365 40768365 C T COL9A2 Nonsynonymous SNV G574R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 135414 chr9 134183416 134183416 C A PLPP7 Synonymous SNV I186I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 17.86 135415 chr9 134343122 134343122 G T rs114244064 PRRC2B Nonsynonymous SNV Q631H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.5 135416 chr8 8176654 8176654 G C rs2011560 PRAG1 Nonsynonymous SNV H1077Q 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.001 135417 chr8 8233858 8233858 G A rs17150802 PRAG1 Synonymous SNV T687T 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 5.806 135418 chr9 131388089 131388089 C T rs139799727 SPTAN1 Synonymous SNV G2012G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign/Likely benign 17.12 135419 chr11 6943062 6943062 G A rs140000661 OR2D3 Nonsynonymous SNV R277Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.311 135420 chr8 82371545 82371545 G A rs201617700 FABP9 Nonsynonymous SNV A34V 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 21.1 135421 chr9 131596086 131596086 A C rs756547397 KYAT1 Nonsynonymous SNV V331G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 135422 chr9 135278142 135278142 A G TTF1 Nonsynonymous SNV S23P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 135423 chr11 71727179 71727179 A C rs760616367 NUMA1 Nonsynonymous SNV F457C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 135424 chr9 122011288 122011288 G T rs201992192 BRINP1 Nonsynonymous SNV T120N 0 0.005 0 0 0 2 0 0 0 0 0 0 12.12 135425 chr9 123550150 123550150 T C rs755361955 FBXW2 Synonymous SNV R129R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.454 135426 chr9 136320697 136320697 C T rs147292523 ADAMTS13 Synonymous SNV P1180P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.21 135427 chr8 23563991 23563991 A T rs576577900 NKX2-6 Nonsynonymous SNV F41I 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Uncertain significance 3.117 135428 chr9 125288840 125288840 C T rs151154516 OR1N1 Nonsynonymous SNV V245I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.2 135429 chr9 138719303 138719303 C T rs138461787 CAMSAP1 Synonymous SNV P391P 0.005 0.01 0.017 0 6 4 0 5 0 0 0 0 11.7 135430 chr8 27310673 27310673 C T rs147909940 PTK2B Nonsynonymous SNV A822V 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 14.86 135431 chr9 101907165 101907165 A C rs7861780 TGFBR1 Synonymous SNV T298T 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Benign/Likely benign 0.023 135432 chr20 37396117 37396117 G A rs144462138 ACTR5 Nonsynonymous SNV D482N 0.002 0.003 0.003 6 2 1 0.015 1 0 0 0 0 23.5 135433 chr9 104238355 104238355 C T rs549802602 PGAP4 Synonymous SNV P340P 0.004 0 0 0 5 0 0 0 0 0 0 0 13.32 135434 chr9 126139331 126139331 G A CRB2 Nonsynonymous SNV R1283K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 135435 chr9 139412352 139412352 G A rs372751855 NOTCH1 Synonymous SNV N431N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 9.474 135436 chr9 105767464 105767464 G A rs10990424 CYLC2 Nonsynonymous SNV G184D 0.003 0.013 0 5 3 5 0.013 0 0 0 0 1 0.008 135437 chr9 128069704 128069704 G A rs373955222 GAPVD1 Nonsynonymous SNV A377T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.3 135438 chr9 129856144 129856144 C G rs139697219 ANGPTL2 Synonymous SNV L293L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.51 135439 chr9 129979253 129979253 G A RALGPS1 Synonymous SNV A521A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.636 135440 chr7 131084024 131084024 C T MKLN1 Nonsynonymous SNV L179F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.4 135441 chr9 139756772 139756772 A G rs145826099 EDF1 Synonymous SNV I116I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.36 135442 chr8 37963113 37963113 G A rs765620872 ASH2L Synonymous SNV G15G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.866 135443 chr8 38940224 38940224 A C rs769763130 ADAM9 Nonsynonymous SNV K649T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 22.9 135444 chr9 111882152 111882152 C T rs774984165 TMEM245 Synonymous SNV R14R 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 10.57 135445 chr11 8662310 8662310 C T rs202229005 TRIM66 Nonsynonymous SNV V393M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 19.26 135446 chr7 138413539 138413539 C T rs186997078 ATP6V0A4 Synonymous SNV P659P 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Uncertain significance 18.06 135447 chr11 88323808 88323808 C G GRM5 Nonsynonymous SNV A551P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 135448 chr11 900024 900024 T A rs749130873 CHID1 Nonsynonymous SNV T176S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 135449 chr9 131709376 131709376 G A rs145764316 DOLK Synonymous SNV A69A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.52 135450 chr9 115422157 115422157 C A KIAA1958 Stop gain Y653X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 135451 chr9 14750137 14750137 C T rs950232274 FREM1 Nonsynonymous SNV D385N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.5 135452 chr7 141490584 141490584 A C rs148169222 TAS2R5 Synonymous SNV T141T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 135453 chr7 92734043 92734043 T - rs748037120 SAMD9 E457Kfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 135454 chr9 20819795 20819795 G T FOCAD Nonsynonymous SNV V486L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 135455 chr12 100550758 100550758 G A rs150859784 GOLGA2P5 0 0 0.007 0 0 0 0 2 0 0 0 0 8.734 135456 chr12 100552585 100552585 G A rs138934662 GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 5.143 135457 chr12 104077061 104077061 G A rs776338745 STAB2 Nonsynonymous SNV G962R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.6 135458 chr9 135462749 135462749 C T rs557608885 BARHL1 Nonsynonymous SNV S167F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 135459 chr9 136255345 136255345 G A rs139362074 STKLD1 Synonymous SNV A144A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.88 135460 chr1 86920891 86920891 C A rs565013803 CLCA2 Nonsynonymous SNV T838K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 135461 chr12 108641799 108641799 G A rs144706841 WSCD2 Synonymous SNV P459P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.84 135462 chr12 10954583 10954583 A T rs139604652 TAS2R7 Nonsynonymous SNV V196E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.3 135463 chr12 109616951 109616951 G A rs201408408 ACACB Nonsynonymous SNV R499H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 135464 chr9 3262960 3262960 T C RFX3 Nonsynonymous SNV N527S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 26 135465 chr8 106813888 106813888 G T rs200643137 ZFPM2 Synonymous SNV R473R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign 1.092 135466 chr12 109998845 109998845 C T rs756195708 MMAB Nonsynonymous SNV R195H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 24.3 135467 chr7 151093101 151093101 C T rs61740829 WDR86 Nonsynonymous SNV G163R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.36 135468 chr12 111856418 111856418 G A SH2B3 Nonsynonymous SNV A157T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.045 135469 chr12 112654678 112654678 G A rs771485523 HECTD4 Synonymous SNV T2438T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 135470 chr9 130825802 130825802 G A rs138010554 NAIF1 Nonsynonymous SNV R297C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 34 135471 chr9 130865983 130865983 A G rs201631831 SLC25A25 Synonymous SNV L204L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.155 135472 chr9 396845 396845 C T rs535305490 DOCK8 Nonsynonymous SNV R911C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 35 135473 chr9 130242240 130242240 G T rs367599324 LRSAM1 Synonymous SNV L342L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.38 135474 chr9 130242241 130242241 C T rs369353985 LRSAM1 Synonymous SNV L343L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.86 135475 chr9 130270399 130270399 G C rs376674479 NIBAN2 Synonymous SNV L492L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.41 135476 chr9 130494867 130494867 G A rs201342330 TOR2A Nonsynonymous SNV R71C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 135477 chr12 118199088 118199088 G C rs567173947 KSR2 Synonymous SNV P238P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.55 135478 chr7 21737795 21737795 G A rs754395781 DNAH11 Synonymous SNV T2048T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.378 135479 chr7 21945988 21945988 C T rs34578779 CDCA7L Synonymous SNV K234K 0.003 0 0 0 4 0 0 0 0 0 0 0 19.72 135480 chr9 17394589 17394589 G C CNTLN Nonsynonymous SNV E713Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 135481 chr8 126034142 126034142 A C rs143543748 SQLE Synonymous SNV V560V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 135482 chr9 90501792 90501792 C T rs769719047 SPATA31E1 Nonsynonymous SNV P797L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.97 135483 chr9 114860837 114860837 G A SUSD1 Nonsynonymous SNV P463S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 135484 chr9 114860838 114860838 G A SUSD1 Synonymous SNV Y462Y 0.003 0 0 0 3 0 0 0 0 0 0 0 1.844 135485 chr9 2182175 2182175 G C SMARCA2 Nonsynonymous SNV G123A 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 24.2 135486 chr12 124379247 124379247 A G DNAH10 Nonsynonymous SNV H2968R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.89 135487 chr12 125396296 125396296 A G rs14565 UBC Synonymous SNV T674T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 135488 chr12 125396398 125396398 A G rs8023 UBC Synonymous SNV D640D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.622 135489 chr9 84249157 84249157 C T rs767130693 TLE1 Synonymous SNV T154T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 135490 chr9 86414179 86414179 T G rs770647692 GKAP1 Nonsynonymous SNV H94P 0.006 0 0 0 7 0 0 0 0 0 0 0 15.34 135491 chr9 136030656 136030656 C T rs146249736 GBGT1 Nonsynonymous SNV V73I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 135492 chr9 35089414 35089414 G A rs376829041 PIGO Nonsynonymous SNV R1035C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 135493 chr8 141684459 141684459 C T rs140371105 PTK2 Nonsynonymous SNV G172S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.289 135494 chr9 35662967 35662967 G A rs143394421 ARHGEF39 Nonsynonymous SNV R217C 0 0.005 0.003 0 0 2 0 1 0 0 0 0 25.7 135495 chr9 94123990 94123990 G T rs181327211 AUH Nonsynonymous SNV P61H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 1.399 135496 chr8 142221746 142221746 C T rs200439120 SLC45A4 Nonsynonymous SNV R731H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 135497 chr12 13061441 13061441 C T rs144830738 GPRC5A Synonymous SNV I86I 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 10.22 135498 chr9 37521773 37521773 C T rs200044588 FBXO10 Nonsynonymous SNV V665I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 19.19 135499 chr7 33148856 33148856 C G RP9 Nonsynonymous SNV Q43H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.4 135500 chr9 135117332 135117332 C T rs762648591 NTNG2 Nonsynonymous SNV A476V 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 21 135501 chr12 132325135 132325135 G A rs140002868 MMP17 Nonsynonymous SNV R147Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 135502 chr9 135210070 135210070 A T SETX Nonsynonymous SNV S255T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 26.6 135503 chr9 123931942 123931942 T C CNTRL Synonymous SNV L1490L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.004 135504 chr9 124794099 124794099 C T rs116884413 TTLL11 Nonsynonymous SNV R289K 0.005 0.021 0.007 3 6 8 0.008 2 0 0 0 0 23.6 135505 chr7 38505833 38505833 A G rs780556037 AMPH Synonymous SNV Y202Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.586 135506 chr8 144413450 144413450 G A rs749449114 TOP1MT Nonsynonymous SNV P61L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 135507 chr8 144462240 144462240 G A rs778007273 RHPN1 Nonsynonymous SNV E371K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.083 135508 chr9 139379298 139379298 T G rs755303206 C9orf163 Nonsynonymous SNV F133C 0.003 0 0 0 3 0 0 0 0 0 0 0 4.007 135509 chrX 107976059 107976059 G A rs754482508 IRS4 Synonymous SNV A1172A 0.009 0 0 2 11 0 0.005 0 3 0 0 1 12.46 135510 chr12 14656878 14656878 A G rs147641578 PLBD1 Nonsynonymous SNV I497T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 135511 chrX 114425140 114425140 G A rs782150256 RBMXL3 Nonsynonymous SNV R379Q 0.003 0.003 0.007 2 3 1 0.005 2 0 0 1 0 2.523 135512 chr12 21033804 21033804 A G rs79382866 SLCO1B3, SLCO1B3-SLCO1B7 Synonymous SNV A421A 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Benign/Likely benign 1.628 135513 chr9 140325775 140325775 G A rs376242985 NOXA1 Synonymous SNV S206S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.72 135514 chr8 144998362 144998362 A G PLEC Nonsynonymous SNV L1898P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.54 135515 chrX 129518885 129518885 G A rs151182359 GPR119 Synonymous SNV L179L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.926 135516 chr1 153747984 153747984 - CCTGCTGCTGCC rs757444927 SLC27A3 L11_L12insPLLL 0.003 0 0 0 3 0 0 0 0 0 0 0 135517 chr12 26026988 26026988 G T rs11048315 MIR4302 0 0 0.017 0 0 0 0 5 0 0 0 0 0.402 135518 chr8 145111973 145111973 C T rs188318488 OPLAH Synonymous SNV V528V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.643 135519 chr9 131864831 131864831 C T rs143158365 CRAT Nonsynonymous SNV V160M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 32 135520 chr9 132515190 132515190 C T rs773737665 PTGES Synonymous SNV T34T 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 20.2 135521 chr1 155891280 155891280 C G rs145643261 KHDC4 Synonymous SNV V384V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.1 135522 chr8 145654587 145654587 C T TONSL Nonsynonymous SNV R1359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.277 135523 chr9 140146584 140146584 C T rs375821259 STPG3 Stop gain R134X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 135524 chr12 32903729 32903729 G T rs750572052 YARS2 Synonymous SNV R343R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 135525 chrX 151818301 151818301 T C GABRQ Nonsynonymous SNV L236P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 135526 chr7 64852883 64852883 G A rs369042589 ZNF92 Synonymous SNV A24A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.975 135527 chr9 328143 328143 C T rs145716710 DOCK8 Nonsynonymous SNV P271L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 135528 chr7 65551576 65551576 C T rs745864407 ASL Nonsynonymous SNV R151C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 20.5 135529 chr7 6631283 6631283 A G rs146220253 C7orf26 Nonsynonymous SNV N67D 0.002 0 0 0 2 0 0 0 0 0 0 0 22 135530 chr7 70255577 70255579 CCA - rs746800065 AUTS2 H1109del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 135531 chr12 45782052 45782052 G A rs142960268 ANO6 Nonsynonymous SNV R425Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 22.3 135532 chr8 1877563 1877563 C T rs144293528 ARHGEF10 Synonymous SNV Y973Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.235 135533 chr8 2007322 2007322 C G MYOM2 Stop gain Y203X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 135534 chr7 76912016 76912016 G A rs776743914 CCDC146 Nonsynonymous SNV E688K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 135535 chr12 49087652 49087652 G A CCNT1 Nonsynonymous SNV R449W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 135536 chr1 160062961 160062961 G A rs139248676 IGSF8 Synonymous SNV P355P 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 9.846 135537 chr12 49722816 49722816 C T rs143299428 TROAP Nonsynonymous SNV P333L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.25 135538 chr8 22475264 22475264 G A rs202191018 CCAR2 Synonymous SNV E681E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.65 135539 chr12 50500678 50500678 T C rs2232207 GPD1 Nonsynonymous SNV V174A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 27 135540 chr9 139231937 139231937 G A rs143841773 GPSM1 Synonymous SNV A206A 0.004 0 0 0 5 0 0 0 0 0 0 0 12.85 135541 chr7 92062606 92062606 T C rs185899966 TMBIM7P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.438 135542 chr12 51693021 51693021 C T rs142121602 BIN2 Nonsynonymous SNV E158K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 135543 chr9 4679816 4679816 G T CDC37L1 Stop gain E17X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 135544 chrX 152710408 152710408 C T rs200659060 TREX2 Nonsynonymous SNV G161S 0.004 0.003 0.007 2 5 1 0.005 2 2 0 1 1 9.674 135545 chr22 29446514 29446514 A G rs968131302 ZNRF3 Nonsynonymous SNV Y782C 0 0 0 3 0 0 0.008 0 0 0 0 0 26.1 135546 chr9 5774189 5774189 C T rs753779392 RIC1 Synonymous SNV A1368A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.56 135547 chr22 29446850 29446850 C T rs533046492 ZNRF3 Nonsynonymous SNV P894L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.111 135548 chr9 5968477 5968477 C T rs746907905 KIAA2026 Nonsynonymous SNV C585Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.715 135549 chr7 97846742 97846742 G A rs200095183 TECPR1 Nonsynonymous SNV P1153L 0.005 0 0 0 6 0 0 0 0 0 0 0 21 135550 chr9 140173204 140173204 C T rs772256287 TOR4A Synonymous SNV C21C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.24 135551 chr9 79985978 79985978 G A VPS13A Nonsynonymous SNV G2958D 0.002 0 0 0 2 0 0 0 0 0 0 0 32 135552 chr8 29207610 29207610 T C rs978777384 DUSP4 Synonymous SNV L62L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.528 135553 chrX 17744819 17744819 G A rs149609550 NHS Nonsynonymous SNV A667T 0.003 0.005 0.003 2 4 2 0.005 1 1 1 0 0 Benign/Likely benign 0.004 135554 chr9 85677562 85677562 G A rs140897785 RASEF Nonsynonymous SNV S74F 0.01 0.005 0.02 10 12 2 0.026 6 0 0 0 0 10.66 135555 chrX 77150937 77150937 C T rs182757967 MAGT1 Nonsynonymous SNV V23I 0.005 0 0 0 6 0 0 0 1 0 0 0 Benign/Likely benign 10.75 135556 chr9 86617711 86617711 A G rs527388986 RMI1 Nonsynonymous SNV M604V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 135557 chr9 141016258 141016258 A G rs754453337 CACNA1B Nonsynonymous SNV D2276G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 135558 chr8 3267027 3267027 C T rs182017822 CSMD1 Synonymous SNV P554P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 15.37 135559 chr12 53461963 53461963 G A rs760004699 SPRYD3 Synonymous SNV Y273Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.328 135560 chr22 31342355 31342355 C T rs141171446 MORC2 Synonymous SNV T133T 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 19.27 135561 chrX 9905579 9905579 C T SHROOM2 Synonymous SNV A166A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.21 135562 chr9 17135132 17135132 A T CNTLN Synonymous SNV P23P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.345 135563 chr8 38693783 38693783 T A TACC1 Nonsynonymous SNV V196E 0.001 0 0 0 1 0 0 0 0 0 0 0 34 135564 chr10 100152254 100152254 C T rs753952113 PYROXD2 Nonsynonymous SNV V333M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 135565 chr9 95272297 95272297 C T rs41278707 ECM2 Nonsynonymous SNV R375H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.76 135566 chr9 20944629 20944629 G A rs56037765 FOCAD Synonymous SNV T1137T 0.012 0.008 0.014 7 14 3 0.018 4 0 0 0 0 Benign 16.16 135567 chr10 101294826 101294826 G A rs755988006 NKX2-3 Nonsynonymous SNV R148H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 135568 chr9 96080827 96080827 G A C9orf129 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.139 135569 chr8 42297131 42297131 G A rs376751920 SLC20A2 Synonymous SNV D257D 0.004 0 0 0 5 0 0 0 0 0 0 0 6.724 135570 chr8 108972931 108972931 G A rs142649056 RSPO2 Nonsynonymous SNV A70V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.8 135571 chr8 53092774 53092774 C T rs186302939 ST18 Nonsynonymous SNV R62Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 135572 chr8 110255353 110255353 T C NUDCD1 Nonsynonymous SNV Q517R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.7 135573 chr8 56698896 56698901 GAAGAA - rs565363610 TGS1 E54_E55del 0.002 0 0 0 2 0 0 0 0 0 0 0 135574 chrX 104464660 104464660 T C rs41300159 TEX13A Nonsynonymous SNV K141R 0.015 0.008 0.007 2 18 3 0.005 2 5 1 1 1 0.009 135575 chr22 38055296 38055296 C G rs765548307 PDXP Synonymous SNV P169P 0 0 0 3 0 0 0.008 0 0 0 0 0 10.03 135576 chr12 56992958 56992958 C T rs757239924 BAZ2A Nonsynonymous SNV R1786Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 135577 chr10 105218259 105218259 G A rs151031063 CALHM1 Nonsynonymous SNV R84W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 135578 chr12 57453699 57453699 C T rs79322678 NEMP1 Nonsynonymous SNV R360Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 0.192 135579 chr12 57485082 57485082 T G rs144871450 NAB2 Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.357 135580 chr12 57490378 57490378 G A rs3024978 STAT6 Synonymous SNV L731L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.519 135581 chr8 65494250 65494250 G A rs142170160 BHLHE22 Synonymous SNV E301E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.188 135582 chr22 39016227 39016227 T C rs940960938 FAM227A Nonsynonymous SNV Y343C 0 0 0 3 0 0 0.008 0 0 0 0 0 0.001 135583 chr10 106401120 106401120 G A rs562822100 SORCS3 Nonsynonymous SNV R12K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.05 135584 chr12 58131251 58131251 G T rs201146586 AGAP2 Nonsynonymous SNV A260D 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 20.3 135585 chrX 12904443 12904443 G A rs200031329 TLR7 Synonymous SNV P272P 0.003 0 0 0 3 0 0 0 1 0 0 0 0.039 135586 chr22 41617234 41617234 C G rs774690558 L3MBTL2 Synonymous SNV G295G 0 0 0 3 0 0 0.008 0 0 0 0 0 14.25 135587 chr8 126448518 126448518 C T rs201838912 TRIB1 Synonymous SNV S142S 0.003 0 0 0 4 0 0 0 0 0 0 0 14.14 135588 chr22 42071147 42071147 G A rs61736477 SNU13 Synonymous SNV D59D 0 0 0.003 3 0 0 0.008 1 0 0 0 0 9.907 135589 chrX 99662266 99662266 T C rs201671718 PCDH19 Nonsynonymous SNV T444A 0 0.005 0 0 0 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 21.6 135590 chrX 99662681 99662681 G A PCDH19 Synonymous SNV D305D 0.004 0.005 0 0 5 2 0 0 2 0 0 0 Likely benign 0.012 135591 chr12 65448935 65448935 T C rs147528205 WIF1 Synonymous SNV Q327Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.09 135592 chr8 8238931 8238931 C T rs117472899 PRAG1 Synonymous SNV S109S 0.003 0 0.014 0 3 0 0 4 0 0 0 0 12.29 135593 chrX 118145853 118145853 G A rs148556587 LONRF3 Synonymous SNV E535E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.3 135594 chr8 8654915 8654915 C G MFHAS1 Nonsynonymous SNV V1029L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 135595 chrX 13794363 13794363 A G rs36099093 GPM6B Synonymous SNV I218I 0.006 0.005 0 0 7 2 0 0 2 1 0 0 Benign 11.86 135596 chr12 6665020 6665020 G A rs747942056 IFFO1 Nonsynonymous SNV A59V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.64 135597 chrX 14027146 14027146 G A rs757107717 GEMIN8 Synonymous SNV Y205Y 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.712 135598 chrX 14038367 14038367 C T rs765879777 GEMIN8 Nonsynonymous SNV R101H 0.005 0.003 0 3 6 1 0.008 0 2 0 0 1 0.026 135599 chrX 123224545 123224545 G A STAG2 Nonsynonymous SNV R1133Q 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 135600 chr8 88364017 88364017 A G rs182778288 CNBD1 Nonsynonymous SNV K383E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 135601 chr10 102048184 102048184 C T rs142439136 PKD2L1 Nonsynonymous SNV R749H 0.009 0.003 0.01 2 10 1 0.005 3 0 0 0 0 Benign 8.711 135602 chr8 136657316 136657316 A G KHDRBS3 Nonsynonymous SNV Y302C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 135603 chr10 120094653 120094653 C T rs143996455 FAM204A Synonymous SNV P142P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.88 135604 chrX 135429360 135429360 G A rs763923949 ADGRG4 Synonymous SNV T1165T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.871 135605 chr10 104629574 104629574 G C AS3MT Nonsynonymous SNV R5P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.53 135606 chr10 15647757 15647757 G A rs117151630 ITGA8 Synonymous SNV L631L 0.013 0.023 0.007 2 15 9 0.005 2 0 0 0 0 Benign 9.706 135607 chr10 16992002 16992002 C A rs372361501 CUBN Nonsynonymous SNV R1693L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 135608 chr9 100201585 100201585 A G rs139706467 TDRD7 Nonsynonymous SNV T134A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 0.022 135609 chr12 78513368 78513368 C T NAV3 Nonsynonymous SNV T1131I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 135610 chr10 17157533 17157533 C T rs142553474 CUBN Synonymous SNV G219G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.67 135611 chr10 124390721 124390721 T A DMBT1 Synonymous SNV T1333T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.247 135612 chrX 153295964 153295964 C T rs61753973 MECP2 Nonsynonymous SNV A451T 0.014 0.008 0 0 17 3 0 0 4 1 0 0 Benign/Likely benign 9.908 135613 chr10 124909213 124909213 G A rs202147076 HMX2 Synonymous SNV G132G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.464 135614 chrX 15373325 15373325 G A rs369324337 VEGFD Synonymous SNV P196P 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.029 135615 chr10 125780762 125780762 - GGC CHST15 T452_P453insA 0.001 0 0 0 1 0 0 0 0 0 0 0 135616 chrX 15509316 15509316 G A rs202040906 PIR Nonsynonymous SNV A22V 0.006 0.003 0 3 7 1 0.008 0 2 0 0 1 29 135617 chr8 144642922 144642922 C T rs752929582 GSDMD Nonsynonymous SNV P187L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.85 135618 chr10 24889580 24889580 C T rs746024517 ARHGAP21 Nonsynonymous SNV E830K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 135619 chr10 129245753 129245753 G A rs771525670 DOCK1 Nonsynonymous SNV E1837K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 135620 chr9 95481240 95481240 C T rs916661191 BICD2 Nonsynonymous SNV G563R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 8.93 135621 chr9 107513363 107513363 C T rs778443504 NIPSNAP3A Nonsynonymous SNV R63W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 135622 chr10 115411579 115411579 C T rs774068086 NRAP Nonsynonymous SNV A220T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.91 135623 chr10 115526416 115526416 A G rs774373925 PLEKHS1 Nonsynonymous SNV K49E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.693 135624 chr10 13323083 13323083 C T rs538686726 PHYH Nonsynonymous SNV D198N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.148 135625 chr10 134021629 134021629 C T rs193167468 STK32C Nonsynonymous SNV R462K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.417 135626 chr10 134161785 134161785 C T rs112727561 LRRC27 Nonsynonymous SNV T157M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 135627 chrX 100871534 100871534 T C ARMCX6 Nonsynonymous SNV K26R 0.003 0.008 0 0 4 3 0 0 1 0 0 0 0.179 135628 chr10 121212260 121212260 A G rs146588150 GRK5 Synonymous SNV T494T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.339 135629 chrX 107403796 107403796 C T COL4A6 Synonymous SNV Q1417Q 0.003 0.008 0 0 4 3 0 0 1 0 0 0 12.33 135630 chr9 114470188 114470188 G A rs151177644 SHOC1 Synonymous SNV V732V 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 9.767 135631 chrX 107938088 107938088 G A rs761701751 COL4A5 Synonymous SNV T1580T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.99 135632 chr13 102698345 102698345 A T rs1053323453 MIR4705 0 0 0.003 0 0 0 0 1 0 0 0 0 1.115 135633 chr10 121586331 121586331 T C INPP5F Nonsynonymous SNV V203A 0.002 0 0 0 2 0 0 0 0 0 0 0 23 135634 chr10 135106137 135106137 G A rs112795322 TUBGCP2 Synonymous SNV H230H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.48 135635 chr9 116136140 116136140 C A rs760798512 HDHD3 Nonsynonymous SNV W165C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 135636 chr13 103395359 103395359 T G rs41281660 CCDC168 Nonsynonymous SNV K2563T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 5.528 135637 chrX 50659009 50659009 T C rs141218518 BMP15 Nonsynonymous SNV F194S 0.009 0 0 2 10 0 0.005 0 2 0 0 1 Likely benign 5.467 135638 chr13 103418924 103418924 A T rs140990079 TEX30 Nonsynonymous SNV V102D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 135639 chrX 117739235 117739235 A G rs149752909 DOCK11 Nonsynonymous SNV Q866R 0.009 0.005 0.007 4 10 2 0.01 2 3 1 1 2 Benign 12.41 135640 chr10 15146061 15146061 C A rs34040166 RPP38 Synonymous SNV R250R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 135641 chr13 110802780 110802780 G A rs201767532 COL4A1 Nonsynonymous SNV P1647L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.5 135642 chrX 70823693 70823716 CCGACGACAACAGTGATGATTCAT - rs756496663 GCNA S205_S212del 0.003 0 0 0 3 0 0 0 1 0 0 0 135643 chrX 71425680 71425680 A G rs770226815 ERCC6L Synonymous SNV N979N 0.003 0 0 0 3 0 0 0 1 0 0 0 0.027 135644 chr10 18270341 18270341 A G rs72778328 SLC39A12 Nonsynonymous SNV Q208R 0.003 0.008 0.01 4 3 3 0.01 3 0 0 0 0 26.8 135645 chrX 69498431 69498431 G A rs773461552 ARR3 Nonsynonymous SNV R282Q 0.003 0 0 1 4 0 0.003 0 1 0 0 0 22.7 135646 chr8 145737400 145737400 C T rs765087683 RECQL4 Nonsynonymous SNV R1096H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 16.08 135647 chr10 127726901 127726901 C T rs774398581 ADAM12 Nonsynonymous SNV R753Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 135648 chr10 50109852 50109852 C G WDFY4 Nonsynonymous SNV C2510W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 135649 chr10 22218058 22218058 C A DNAJC1 Nonsynonymous SNV A79S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 135650 chr10 12870833 12870833 G A rs200052874 CAMK1D Nonsynonymous SNV E369K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 135651 chrX 85213885 85213885 C T rs367902196 CHM Nonsynonymous SNV R267Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 135652 chr9 123937318 123937318 C G CNTRL Nonsynonymous SNV S1658C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 135653 chr9 124534958 124534958 C T rs147918500 DAB2IP Synonymous SNV S593S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 135654 chr9 124931957 124931957 G T rs41302655 MORN5 Nonsynonymous SNV D77Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.98 135655 chr8 17579318 17579318 T C rs143889879 MTUS1 Synonymous SNV S31S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.14 135656 chr13 23471650 23471650 C T rs117199735 BASP1P1 0 0 0.024 0 0 0 0 7 0 0 0 0 0.743 135657 chr10 13178766 13178766 G A rs75654767 OPTN Nonsynonymous SNV R545Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.031 135658 chr10 5139692 5139692 C T rs781871241 AKR1C3 Stop gain Q107X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 135659 chr10 5494334 5494334 G A rs146200933 NET1 Nonsynonymous SNV R72H 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 27.8 135660 chr10 5683848 5683848 G A rs61756319 ASB13 Synonymous SNV I198I 0.006 0 0 0 7 0 0 0 0 0 0 0 14.63 135661 chr13 28494553 28494553 C G rs760498179 PDX1 Nonsynonymous SNV P93R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 135662 chr13 28542910 28542910 A G rs952299549 CDX2 Synonymous SNV N78N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.966 135663 chr10 102770310 102770327 CGGCTACGGCTGCGGCTA - rs397516634 PDZD7 R779_S784del 0.006 0.013 0.017 1 7 5 0.003 5 0 0 0 0 135664 chr10 60027276 60027276 G C rs61740967 IPMK Synonymous SNV T32T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 8.493 135665 chr10 104174965 104174965 G C rs373048001 PSD Nonsynonymous SNV A260G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.26 135666 chrX 18926099 18926099 C T rs61733281 PHKA2 Synonymous SNV G812G 0.017 0.008 0.003 3 20 3 0.008 1 5 1 0 1 Benign 11.83 135667 chr8 23004485 23004485 C T rs774130336 TNFRSF10D Synonymous SNV T157T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.79 135668 chr10 32197541 32197541 A C ARHGAP12 Synonymous SNV V81V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.074 135669 chrX 139586311 139586311 G A SOX3 Synonymous SNV A305A 0 0 0 5 0 0 0.013 0 0 0 0 2 8.208 135670 chr13 41240099 41240099 G A rs1051829787 FOXO1 Nonsynonymous SNV P84L 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 7.596 135671 chr9 130656855 130656855 C T rs145007310 ST6GALNAC6 Nonsynonymous SNV R44H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.241 135672 chr10 15138762 15138762 C A rs77502204 RPP38-DT 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 6.651 135673 chr10 112581281 112581281 C T rs587781138 RBM20 Synonymous SNV A968A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 10.28 135674 chr9 130953104 130953104 C T CIZ1 Synonymous SNV Q11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 135675 chr10 11504835 11504835 T C rs765322604 USP6NL Nonsynonymous SNV I715V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.368 135676 chr13 46543083 46543083 C T rs755691752 ZC3H13 Nonsynonymous SNV R1199H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.7 135677 chr13 46648047 46648047 T C rs200231942 CPB2 Synonymous SNV E184E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.455 135678 chr10 114177616 114177616 G A rs34585626 ACSL5 Nonsynonymous SNV G467R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 29.9 135679 chr13 46730665 46730665 G T rs745949061 LCP1 Synonymous SNV A133A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 135680 chr1 241767627 241767627 A G rs141356521 OPN3 Nonsynonymous SNV C210R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 135681 chrX 48925150 48925150 G T CCDC120 Synonymous SNV L500L 0.003 0 0 0 3 0 0 0 1 0 0 0 0.005 135682 chr13 49822228 49822228 G A rs146040096 CDADC1 Nonsynonymous SNV V19I 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 135683 chr10 115535533 115535533 C T rs150370425 PLEKHS1 Synonymous SNV P231P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.83 135684 chrX 53246418 53246418 C T rs61751437 KDM5C Synonymous SNV K121K 0.015 0.016 0 2 18 6 0.005 0 5 1 0 1 Benign 12.27 135685 chr9 133942558 133942558 C T rs34652877 LAMC3 Synonymous SNV S853S 0.01 0.01 0.003 5 12 4 0.013 1 0 0 0 0 Benign 11.71 135686 chr10 103360962 103360962 T C rs148691150 DPCD Synonymous SNV P102P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.52 135687 chr1 247275317 247275317 G C C1orf229 Synonymous SNV P70P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.798 135688 chr10 27459263 27459263 A G rs554314912 MASTL Nonsynonymous SNV I459V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.888 135689 chr9 134385764 134385764 G A rs754611085 POMT1 Nonsynonymous SNV D121N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 135690 chr13 77566309 77566309 T C rs199727787 CLN5 Nonsynonymous SNV W26R 0.001 0.008 0.01 3 1 3 0.008 3 0 0 0 0 Benign/Likely benign 0.002 135691 chr10 12288264 12288264 C T rs151195188 CDC123 Synonymous SNV D278D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.43 135692 chr10 123719071 123719071 T C NSMCE4A Nonsynonymous SNV H343R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.34 135693 chr10 78709061 78709061 C T rs142770262 KCNMA1 Nonsynonymous SNV V742I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 23.6 135694 chr10 123845115 123845115 G A rs61753073 TACC2 Nonsynonymous SNV E1034K 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 Likely benign 15.6 135695 chr10 106074443 106074443 G A rs761359395 ITPRIP Nonsynonymous SNV A456V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.515 135696 chr8 41839376 41839376 C T rs769899629 KAT6A Nonsynonymous SNV R269Q 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 27.7 135697 chr8 48878762 48878762 T C rs149232439 MCM4 Nonsynonymous SNV I283T 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Uncertain significance 27.2 135698 chr1 881843 881843 G A rs752693019 NOC2L Nonsynonymous SNV S581L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 135699 chr13 99992760 99992760 C T rs11551501 UBAC2 Synonymous SNV L215L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.07 135700 chr10 121658306 121658306 A T rs36060726 SEC23IP Nonsynonymous SNV Q177H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.14 135701 chr8 52811573 52811573 A G rs746892950 PCMTD1 Synonymous SNV C33C 0.003 0 0 0 4 0 0 0 0 0 0 0 7.919 135702 chr10 115364565 115364565 G T rs548749783 NRAP Nonsynonymous SNV L1308I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.83 135703 chr1 1249222 1249222 T C rs780898796 INTS11 Nonsynonymous SNV I185V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 135704 chr1 1269476 1269476 G A rs745528793 TAS1R3 Nonsynonymous SNV G731S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.68 135705 chr10 129905042 129905042 C A rs375185834 MKI67 Nonsynonymous SNV A1328S 0.003 0.013 0 0 4 5 0 0 0 0 0 0 17.74 135706 chr10 93170281 93170281 C T HECTD2 Nonsynonymous SNV S29L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 135707 chr14 105174103 105174103 C T rs561201601 INF2 Nonsynonymous SNV P500L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 13.94 135708 chr10 129681989 129681989 G A rs78331816 CLRN3 Nonsynonymous SNV T127M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.567 135709 chr10 96466692 96466692 A G CYP2C18 Nonsynonymous SNV D265G 0.001 0 0 0 1 0 0 0 0 0 0 0 27 135710 chr9 140145656 140145656 C T rs948733416 STPG3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.896 135711 chr10 97380887 97380887 G A rs369979669 ALDH18A1 Synonymous SNV R244R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.34 135712 chr10 131959069 131959069 A G rs779892749 GLRX3 Nonsynonymous SNV K96E 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 12.26 135713 chr10 16943450 16943450 C T rs1801237 CUBN Nonsynonymous SNV G2691R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 27.4 135714 chr14 20874460 20874460 C T rs767578551 TEP1 Nonsynonymous SNV V223M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.253 135715 chr10 74906082 74906082 A T rs762212156 ECD Nonsynonymous SNV L317Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 135716 chr9 21409478 21409478 T C rs147449554 IFNA8 Synonymous SNV D101D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.012 135717 chr10 126136009 126136009 G C NKX1-2 Nonsynonymous SNV P308A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 135718 chr1 9790659 9790659 C G rs148584143 CLSTN1 Nonsynonymous SNV E932D 0.002 0.01 0 0 2 4 0 0 0 0 0 0 13.95 135719 chr14 23239002 23239002 A G rs762545441 OXA1L Nonsynonymous SNV T148A 0 0 0.007 0 0 0 0 2 0 0 0 0 27.4 135720 chr10 70426857 70426857 C T rs762440589 TET1 Nonsynonymous SNV T1506I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16 135721 chr8 99142285 99142285 C T rs140454290 POP1 Nonsynonymous SNV T189M 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 11.97 135722 chr10 15686089 15686089 G C ITGA8 Nonsynonymous SNV P432A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.7 135723 chr10 71129333 71129333 G A rs41279658 HK1 Synonymous SNV E244E 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Benign/Likely benign 5.977 135724 chr1 12640562 12640562 C T rs200750969 DHRS3 Nonsynonymous SNV V25I 0 0.005 0 0 0 2 0 0 0 0 0 0 28 135725 chr9 5747334 5747334 G A rs747943253 RIC1 Synonymous SNV E427E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.759 135726 chr9 6556242 6556242 C T rs147275962 GLDC Nonsynonymous SNV V705M 0.011 0.003 0.014 3 13 1 0.008 4 1 0 0 0 Conflicting interpretations of pathogenicity 27.4 135727 chr9 111938834 111938834 G A rs201310807 EPB41L4B Nonsynonymous SNV A877V 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 24.5 135728 chr14 34269028 34269028 C T rs371839552 NPAS3 Synonymous SNV N475N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 135729 chr10 75568122 75568122 G A rs368488804 NDST2 Nonsynonymous SNV R9C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 25.1 135730 chr10 75896466 75896466 C T rs143006409 AP3M1 Synonymous SNV L123L 0.009 0.01 0 0 11 4 0 0 0 0 0 0 13.94 135731 chr1 17668889 17668889 C T rs141293265 PADI4 Synonymous SNV Y309Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 135732 chr1 18023699 18023699 C T rs77845532 ARHGEF10L Nonsynonymous SNV R925C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 35 135733 chr1 18152939 18152939 C T rs16830789 ACTL8 Synonymous SNV S342S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.24 135734 chr9 79968361 79968361 A G rs142981309 VPS13A Nonsynonymous SNV I2447V 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign/Likely benign 0.212 135735 chr9 88631496 88631496 G A rs149863465 NAA35 Synonymous SNV L537L 0.008 0 0.003 0 9 0 0 1 0 0 0 0 10.44 135736 chr11 1078117 1078117 C T rs541991346 MUC2 Nonsynonymous SNV R162W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 135737 chr10 89468953 89468953 G A rs17173698 PAPSS2 Nonsynonymous SNV E10K 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 13.21 135738 chr10 55581785 55581785 T C rs763251067 PCDH15 Nonsynonymous SNV S1861G 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Uncertain significance 23.3 135739 chr10 55582133 55582133 A G rs144261647 PCDH15 Nonsynonymous SNV S1745P 0.004 0.008 0 8 5 3 0.021 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.053 135740 chr9 124072992 124072992 G A rs41305623 GSN Nonsynonymous SNV V179M 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 Benign 32 135741 chr11 113270260 113270260 G C rs199570081 ANKK1 Nonsynonymous SNV Q523H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 135742 chr10 38121548 38121548 G A rs148738862 ZNF248 Synonymous SNV N245N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.126 135743 chr9 125424071 125424071 C T rs146433436 OR1L1 Nonsynonymous SNV P26L 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 5.871 135744 chr11 114453271 114453271 G T rs572641123 NXPE4 Nonsynonymous SNV A190D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 135745 chr10 98064356 98064356 T C DNTT Synonymous SNV D34D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.661 135746 chr14 64612901 64612901 A G SYNE2 Nonsynonymous SNV E5200G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 135747 chr9 127620275 127620275 G A rs192683197 RPL35 Synonymous SNV H98H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.98 135748 chr10 99400754 99400754 C T PI4K2A Synonymous SNV A85A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.09 135749 chr14 68046499 68046499 T C rs199730574 PLEKHH1 Nonsynonymous SNV I1030T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.458 135750 chr1 28176777 28176777 G A rs139324606 PPP1R8 Nonsynonymous SNV M68I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.52 135751 chr10 71243452 71243452 T G rs143114858 TSPAN15 Nonsynonymous SNV I34M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.277 135752 chr14 70991217 70991217 G A ADAM20 Synonymous SNV H86H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.603 135753 chr1 29587407 29587407 A C rs72649292 PTPRU Nonsynonymous SNV K379T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.2 135754 chr11 119059358 119059358 T C rs148219105 PDZD3 Nonsynonymous SNV S357P 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 27 135755 chr11 102991524 102991524 C T DYNC2H1 Nonsynonymous SNV P414L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 135756 chr2 73172180 73172180 G A rs144558717 SFXN5 Nonsynonymous SNV R195W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 135757 chr10 75143365 75143365 G A rs187605730 ANXA7 Synonymous SNV Y199Y 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 5.941 135758 chr1 35223036 35223036 G T GJB5 Synonymous SNV V35V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.337 135759 chr11 122726476 122726476 T C rs199730117 CRTAM Synonymous SNV Y188Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 135760 chr1 35972249 35972249 G A rs149385151 KIAA0319L Synonymous SNV N210N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.06 135761 chr11 1080938 1080938 A C rs559187890 MUC2 Nonsynonymous SNV Q441P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.6 135762 chr10 75888979 75888979 A G rs73282407 AP3M1 Synonymous SNV D230D 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 1.542 135763 chr14 77895381 77895381 T C rs769112384 VIPAS39 Nonsynonymous SNV T393A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 135764 chr10 76784992 76784992 G T rs57372986 KAT6B Nonsynonymous SNV A436S 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Benign 9.822 135765 chr1 36887813 36887813 C A rs17442970 OSCP1 Nonsynonymous SNV V253L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.92 135766 chr2 74808893 74808893 - A rs144217347 M1AP Frameshift insertion W226Lfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 135767 chr10 76924403 76924403 C T rs61746282 SAMD8 Synonymous SNV S193S 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 15.81 135768 chr2 77745879 77745879 G A rs201215387 LRRTM4 Synonymous SNV H373H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.481 135769 chr10 79581296 79581296 G A rs756205792 DLG5 Synonymous SNV P982P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.795 135770 chr14 86089571 86089571 C A rs138415682 FLRT2 Synonymous SNV R571R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.477 135771 chr9 133972037 133972037 C T AIF1L Synonymous SNV N7N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.82 135772 chr11 111753280 111753280 T C rs782455856 C11orf1 Synonymous SNV Y78Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.75 135773 chr10 72511246 72511246 A G rs375223153 ADAMTS14 Nonsynonymous SNV T814A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 3.636 135774 chr10 72511347 72511347 C T rs371886529 ADAMTS14 Synonymous SNV D847D 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 8.041 135775 chr14 89883737 89883737 T C rs58572475 FOXN3-AS1 0 0 0.034 0 0 0 0 10 0 0 4 0 2.824 135776 chr14 89883754 89883754 C G rs142843255 FOXN3-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 5.977 135777 chr14 91592772 91592772 G C rs76554363 SNORA11B 0 0 0.017 0 0 0 0 5 0 0 0 0 8.563 135778 chr14 91700354 91700354 G A GPR68 Synonymous SNV A347A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.784 135779 chr14 91701023 91701023 G T rs141731950 GPR68 Synonymous SNV A124A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.035 135780 chr10 88719422 88719422 G A rs184050583 SNCG Nonsynonymous SNV V52M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 135781 chr2 96943442 96943442 G A rs147427344 SNRNP200 Synonymous SNV L1922L 0.013 0.021 0.01 5 15 8 0.013 3 0 1 0 0 Benign/Likely benign 8.566 135782 chrX 49033377 49033377 G A rs146977278 PRICKLE3 Nonsynonymous SNV P309L 0.002 0 0 0 2 0 0 0 1 0 0 0 14.68 135783 chr1 42898854 42898854 A T rs201282219 ZMYND12 Nonsynonymous SNV I202N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 135784 chr1 43201549 43201549 T C rs145157550 CLDN19 Nonsynonymous SNV S181G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.02 135785 chr2 100006190 100006190 T C rs753358744 EIF5B Synonymous SNV L761L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.801 135786 chrX 67938234 67938234 C T rs372956816 STARD8 Nonsynonymous SNV P413L 0.002 0 0 0 2 0 0 0 1 0 0 0 0.003 135787 chr1 43905354 43905354 C T rs150979208 SZT2 Nonsynonymous SNV P2262L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.3 135788 chr10 93220242 93220242 T A rs61754654 HECTD2 Nonsynonymous SNV D109E 0.012 0.01 0.01 1 14 4 0.003 3 0 0 0 0 0.014 135789 chrX 70823695 70823695 G A rs377418953 GCNA Nonsynonymous SNV D190N 0.002 0 0 0 2 0 0 0 1 0 0 0 0.161 135790 chr11 111225020 111225020 G A rs140834337 POU2AF1 Nonsynonymous SNV A246V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 14.7 135791 chr11 126124269 126124269 A C rs559540828 FAM118B Nonsynonymous SNV S213R 0.007 0 0 0 8 0 0 0 0 0 0 0 23.5 135792 chr11 1262115 1262115 C T rs750257026 MUC5B Synonymous SNV R1335R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.991 135793 chr10 73537455 73537455 G T CDH23 Nonsynonymous SNV V1622L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 32 135794 chr15 101454781 101454781 G A rs140601571 LOC101927751 0 0 0.003 0 0 0 0 1 0 0 0 0 1.999 135795 chr10 75260424 75260424 T C USP54 Nonsynonymous SNV N1433S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.3 135796 chr9 139734211 139734211 G A rs367916248 RABL6 Synonymous SNV P609P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.03 135797 chr11 12280077 12280077 C T rs780747234 MICAL2 Nonsynonymous SNV R822W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 135798 chr11 113803082 113803082 A G rs573712306 HTR3B Nonsynonymous SNV K136R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.81 135799 chr1 1019715 1019715 T A C1orf159 Nonsynonymous SNV I174F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.219 135800 chr15 25296644 25296644 A G rs187533717 SNORD116-1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.586 135801 chr1 1233955 1233955 T A rs140458556 ACAP3 Synonymous SNV T285T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.527 135802 chr10 99531483 99531483 G A rs34203191 SFRP5 Synonymous SNV G36G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.69 135803 chr10 94825987 94825987 T G CYP26C1 Nonsynonymous SNV L379R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.5 135804 chr1 1562367 1562367 C T rs542956464 MIB2 Nonsynonymous SNV R460W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 135805 chr15 31319204 31319204 C A rs375136665 TRPM1 Nonsynonymous SNV S1154I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 32 135806 chr1 54060404 54060404 G A rs61741984 GLIS1 Nonsynonymous SNV P58S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.1 135807 chr1 54870306 54870306 C T SSBP3 Nonsynonymous SNV R45Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26 135808 chr1 2116873 2116873 C A rs761280525 FAAP20 Nonsynonymous SNV W138C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.73 135809 chr1 2235451 2235451 C G rs199797772 SKI Nonsynonymous SNV P462A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.073 135810 chr11 118514564 118514564 G A rs782075612 PHLDB1 Nonsynonymous SNV R928Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.2 135811 chr11 119215037 119215037 G T MFRP Stop gain Y321X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 39 135812 chr1 57252848 57252848 C G rs150549471 FYB2 Nonsynonymous SNV R318T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.7 135813 chr9 19276454 19276454 T G rs866964441 DENND4C Nonsynonymous SNV D94E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.96 135814 chr10 94733855 94733855 C A rs750922705 EXOC6 Nonsynonymous SNV Q504K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.19 135815 chr1 6166751 6166751 G A rs768719057 CHD5 Synonymous SNV A1889A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.826 135816 chr1 6295019 6295019 A T rs145062634 ICMT Nonsynonymous SNV C71S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.512 135817 chr15 42145893 42145893 C T rs145124622 SPTBN5 Synonymous SNV L3289L 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 10.65 135818 chr1 6639167 6639167 G A rs751188577 TAS1R1 Synonymous SNV V429V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.654 135819 chr1 6649173 6649173 C T rs1804904 ZBTB48 Synonymous SNV P656P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.38 135820 chr11 126310391 126310391 C T rs755391207 KIRREL3 Nonsynonymous SNV G436S 0.001 0 0 0 1 0 0 0 0 0 0 0 28 135821 chr10 99332325 99332325 T G ANKRD2 Nonsynonymous SNV V40G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.318 135822 chr11 130103974 130103974 A G rs751369080 ZBTB44 Nonsynonymous SNV V171A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.81 135823 chr11 100858310 100858310 A G rs752922991 ARHGAP42 Synonymous SNV A841A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.31 135824 chr15 44120212 44120214 CAG - WDR76 A38del 0 0 0.003 0 0 0 0 1 0 0 0 0 135825 chr11 299404 299404 C T rs372443030 IFITM5 Synonymous SNV P29P 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Benign 7.763 135826 chr11 124746198 124746198 T A rs199932669 ROBO3 Nonsynonymous SNV L874Q 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.38 135827 chr11 16822604 16822604 T C rs146070013 PLEKHA7 Nonsynonymous SNV N776D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.9 135828 chr1 12025600 12025600 C T rs138490756 PLOD1 Nonsynonymous SNV R512C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 135829 chr11 17531124 17531124 G A rs111033520 USH1C Nonsynonymous SNV R598C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 21.7 135830 chr11 17614750 17614750 A T rs551850126 OTOG Nonsynonymous SNV D1018V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.52 135831 chr15 52098656 52098656 A G rs146455002 TMOD2 Nonsynonymous SNV Q284R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 135832 chr11 128709887 128709887 C T rs149563706 KCNJ1 Synonymous SNV A103A 0.009 0.01 0.003 2 10 4 0.005 1 0 0 0 0 Benign 8.457 135833 chr2 170103277 170103277 T C rs201299366 LRP2 Nonsynonymous SNV Y1043C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 135834 chr1 16263884 16263884 A G rs201651680 SPEN Nonsynonymous SNV Q3418R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 135835 chr11 19970582 19970582 G A rs150908949 NAV2 Synonymous SNV G803G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.36 135836 chr15 59186137 59186137 C G SLTM Nonsynonymous SNV E493Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 135837 chr1 17298060 17298060 G A rs200022049 CROCC Nonsynonymous SNV R1962H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 135838 chr15 59506463 59506463 C T rs186544268 MYO1E Synonymous SNV Q413Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.22 135839 chr11 116692393 116692393 G T rs147610191 APOA4 Nonsynonymous SNV N127K 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 0.036 135840 chr11 46341846 46341846 C T rs373046103 CREB3L1 Synonymous SNV D430D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 16.58 135841 chr11 46717649 46717649 C T rs762644711 ARHGAP1 Synonymous SNV P3P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.31 135842 chr11 46812089 46812089 G A rs756495835 CKAP5 Synonymous SNV G565G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.906 135843 chr1 18023482 18023482 C T rs748841382 ARHGEF10L Synonymous SNV D852D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 135844 chr1 95657206 95657206 A G rs770980987 TLCD4 Nonsynonymous SNV M192V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.957 135845 chr1 100715350 100715350 G C rs371418997 DBT Synonymous SNV T9T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.986 135846 chr11 118370065 118370065 C T rs77421119 KMT2A Synonymous SNV D2003D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 12.74 135847 chr11 102650390 102650390 T C rs775030472 MMP10 Synonymous SNV Q64Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.029 135848 chr11 48238704 48238704 G A rs140162276 OR4B1 Nonsynonymous SNV V115M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 135849 chr15 65694704 65694704 T C rs377547195 IGDCC4 Nonsynonymous SNV S229G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 135850 chr11 48285983 48285984 TT - OR4X1 F191Lfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 135851 chr11 48285986 48285986 T - OR4X1 F192Sfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 135852 chr1 109395167 109395167 G A rs369040439 AKNAD1 Synonymous SNV G40G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.9 135853 chr1 21009246 21009246 G A rs370565385 KIF17 Nonsynonymous SNV S788L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 135854 chr2 179472666 179472666 C A rs755451227 TTN Nonsynonymous SNV W8551C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 135855 chr11 104820290 104820290 A G rs746488096 CASP4 Nonsynonymous SNV I254T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.7 135856 chr1 109794593 109794593 C T rs41279706 CELSR2 Nonsynonymous SNV T631M 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Likely benign 27.1 135857 chr1 110151344 110151344 C T rs41280330 GNAT2 Nonsynonymous SNV V124M 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Likely benign 23.4 135858 chr11 108032875 108032875 C T rs199936135 NPAT Nonsynonymous SNV G1015S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.003 135859 chr15 74468223 74468223 G A rs201525515 ISLR Nonsynonymous SNV V342M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 135860 chr15 75042290 75042290 C T rs755565165 CYP1A2 Nonsynonymous SNV R71C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 135861 chr11 118375257 118375257 T C rs9332841 KMT2A Synonymous SNV L2884L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 0.026 135862 chr11 34485773 34485773 C T rs145759100 CAT Synonymous SNV N439N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 9.576 135863 chr1 113068722 113068722 G C rs114685215 ST7L Synonymous SNV L364L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 9.772 135864 chr15 76551998 76551998 A G rs80275305 TYRO3P 0 0 0.031 0 0 0 0 9 0 0 0 0 0.136 135865 chr11 375762 375762 C T rs757919891 B4GALNT4 Nonsynonymous SNV T325I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.7 135866 chr1 117487474 117487474 G A rs761726439 PTGFRN Nonsynonymous SNV A198T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 135867 chr11 4903765 4903765 C T rs138268565 OR51T1 Synonymous SNV D212D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.874 135868 chr11 4928719 4928719 G A rs112930526 OR51A7 Nonsynonymous SNV M40I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.673 135869 chr11 116661104 116661104 C T rs142901239 APOA5 Nonsynonymous SNV V281M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 135870 chr11 43419591 43419591 A G rs139431536 TTC17 Nonsynonymous SNV E329G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 135871 chr11 117389407 117389407 C T DSCAML1 Nonsynonymous SNV M428I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23 135872 chrX 131803162 131803162 C T rs201239951 HS6ST2 Nonsynonymous SNV R349Q 0.003 0.01 0 0 3 4 0 0 0 2 0 0 23.5 135873 chr1 27689396 27689396 A G MAP3K6 Nonsynonymous SNV M355T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 135874 chr15 81426732 81426732 T C rs114773212 CFAP161 Nonsynonymous SNV L21P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 135875 chr11 5254210 5254210 G T rs35848600 HBD Nonsynonymous SNV A143D 0.002 0 0 0 2 0 0 0 0 0 0 0 other 28.6 135876 chr15 81627099 81627099 A G TMC3 Synonymous SNV P807P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 135877 chr15 83499499 83499499 C A WHAMM Nonsynonymous SNV P597H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 135878 chr11 118972239 118972239 C T rs1053976856 DPAGT1 Nonsynonymous SNV G43S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 135879 chr11 119030990 119030990 C T rs767556203 ABCG4 Synonymous SNV P497P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.8 135880 chr1 150129593 150129593 G A rs113983437 PLEKHO1 Synonymous SNV E146E 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 9.876 135881 chr1 150131342 150131342 G A rs113590531 PLEKHO1 Nonsynonymous SNV R113H 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 0.233 135882 chr11 33363147 33363147 A C rs757889352 HIPK3 Synonymous SNV G604G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.338 135883 chr1 150416744 150416744 A G rs140068986 RPRD2 Synonymous SNV E169E 0.003 0.005 0.014 0 3 2 0 4 0 0 1 0 Benign 8.834 135884 chr11 119216142 119216142 C A rs150902999 MFRP Nonsynonymous SNV G210V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 135885 chr1 150801580 150801580 A G ARNT Nonsynonymous SNV Y371H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 135886 chr11 119996490 119996490 G A rs61753082 TRIM29 Synonymous SNV D153D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.013 135887 chr1 150956829 150956829 A G rs7536645 ANXA9 Nonsynonymous SNV T114A 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 0.001 135888 chr1 33959040 33959040 C T rs747890743 ZSCAN20 Synonymous SNV D566D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 135889 chr1 34123686 34123686 - GG CSMD2 Frameshift insertion R1436Pfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 135890 chr1 34123689 34123692 CTCC - CSMD2 G1434Vfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 135891 chr1 34123694 34123694 - G CSMD2 Frameshift insertion G1434Wfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 135892 chr1 151131536 151131536 C G rs76172995 TNFAIP8L2 Synonymous SNV T121T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.21 135893 chr11 121421361 121421361 G A rs146438170 SORL1 Nonsynonymous SNV V750I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 13.72 135894 chr1 151141485 151141485 G C rs114031237 SCNM1, TNFAIP8L2-SCNM1 Nonsynonymous SNV R171P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.2 135895 chr1 151262645 151262645 C T rs61743287 ZNF687 Synonymous SNV S1004S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.85 135896 chr1 151318733 151318733 C T rs2233843 RFX5 Nonsynonymous SNV A22T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.66 135897 chr1 35369944 35369944 G A rs754381123 DLGAP3 Synonymous SNV A347A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.535 135898 chr1 151773549 151773549 G A rs113544014 LINGO4 Synonymous SNV L544L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.398 135899 chrX 152137975 152137975 C T rs182646834 ZNF185 Nonsynonymous SNV P278S 0.015 0 0 1 18 0 0.003 0 4 0 0 0 29.4 135900 chr11 3733877 3733877 A G rs34135902 NUP98 Synonymous SNV L840L 0.01 0.005 0.007 4 12 2 0.01 2 0 0 0 0 6.004 135901 chr11 40137227 40137227 T C LRRC4C Nonsynonymous SNV M206V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.596 135902 chrX 152584684 152584684 C T rs782502870 PNMA6F Synonymous SNV R483R 0.012 0 0 1 14 0 0.003 0 4 0 0 0 3.382 135903 chr1 152082957 152082957 C G rs143222885 TCHH Nonsynonymous SNV E912D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.12 135904 chr1 152083905 152083905 C T rs757015941 TCHH Synonymous SNV E596E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 135905 chr1 152084334 152084336 CTC - rs146085887 TCHH E453del 0 0.003 0 0 0 1 0 0 0 0 0 0 135906 chr1 152325054 152325054 C A rs12067755 FLG2 Synonymous SNV G1736G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.77 135907 chr11 15247244 15247244 C T rs762539775 INSC Nonsynonymous SNV A305V 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 35 135908 chr11 44639852 44639852 C T rs141597594 CD82 Synonymous SNV C168C 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Uncertain significance 11.05 135909 chr1 39880019 39880019 A C rs78342613 KIAA0754 Nonsynonymous SNV E1361A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23 135910 chr1 152748897 152748908 CTCCCAAGTGCC - rs753075893 LCE1F P22_P25del 0 0.003 0 0 0 1 0 0 0 0 0 0 135911 chr11 16812721 16812721 G C PLEKHA7 Nonsynonymous SNV P924R 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 28 135912 chr11 557472 557472 C T rs200625515 LMNTD2 Nonsynonymous SNV D214N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 135913 chr1 154407110 154407110 A G rs139710914 IL6R Nonsynonymous SNV M192V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.031 135914 chr11 17655326 17655326 A G OTOG Nonsynonymous SNV E2403G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 135915 chr1 42050393 42050393 C T HIVEP3 Nonsynonymous SNV A26T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 135916 chr11 47595000 47595000 C T rs754116406 KBTBD4 Nonsynonymous SNV A396T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23 135917 chr2 215910690 215910690 C T rs371738215 ABCA12 Nonsynonymous SNV R248K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.849 135918 chr2 216236842 216236842 C T rs372564133 FN1 Synonymous SNV P1987P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 135919 chr11 133789965 133789965 C T rs201329176 IGSF9B Nonsynonymous SNV A1219T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.973 135920 chr1 155695268 155695268 A G rs138952726 DAP3 Nonsynonymous SNV I88M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 135921 chr15 94945150 94945150 C G rs201086064 MCTP2 Nonsynonymous SNV R251G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 34 135922 chr15 99798559 99798559 C T rs139912132 HSP90B2P 0 0 0.017 0 0 0 0 5 0 0 0 0 7.572 135923 chr11 1263618 1263618 C T rs752386600 MUC5B Synonymous SNV P1836P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13 135924 chr1 156551232 156551232 A G rs4661187 TTC24 Nonsynonymous SNV K26E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.22 135925 chr2 220082430 220082430 G T rs747231580 ABCB6 Nonsynonymous SNV Q217K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.353 135926 chr11 2169067 2169067 A G IGF2-AS 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.992 135927 chr1 47264900 47264900 T C rs45522235 CYP4B1 Synonymous SNV P49P 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 Benign 0.057 135928 chr1 156914948 156914948 G C rs758321102 ARHGEF11 Nonsynonymous SNV Q912E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 135929 chr11 540740 540740 G A rs144525570 LRRC56 Nonsynonymous SNV R19Q 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 7.101 135930 chr16 14028081 14028081 C T rs1799802 ERCC4 Nonsynonymous SNV P379S 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 135931 chr1 158654903 158654903 T C rs369020363 SPTA1 Nonsynonymous SNV I87V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 135932 chr11 290964 290964 C T rs755812817 PGGHG Nonsynonymous SNV R253C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.7 135933 chr1 159409757 159409757 T C rs35634161 OR10J1 Nonsynonymous SNV M59T 0.004 0.005 0.01 3 5 2 0.008 3 0 0 0 0 22.9 135934 chr16 17228350 17228350 C T rs150492983 XYLT1 Synonymous SNV T669T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.71 135935 chr1 160094217 160094217 T C rs139229302 ATP1A2 Synonymous SNV C209C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.433 135936 chr11 1968596 1968596 G C rs768793584 MRPL23 Nonsynonymous SNV A2P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 135937 chr11 1974029 1974029 G A rs4930142 MRPL23 Nonsynonymous SNV D81N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 5.842 135938 chr16 19680518 19680518 C T rs149898838 VPS35L Nonsynonymous SNV P660L 0.007 0.01 0.007 1 8 4 0.003 2 0 0 0 0 27.8 135939 chr11 20066705 20066705 G A rs146880326 NAV2 Nonsynonymous SNV G217S 0.007 0.003 0 0 8 1 0 0 0 0 0 0 22.3 135940 chr1 62374125 62374125 A G rs762614148 PATJ Nonsynonymous SNV I1155V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.16 135941 chr11 394445 394445 C T PKP3 Synonymous SNV R51R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.53 135942 chr16 2110791 2110791 G A rs45517148 TSC2 Nonsynonymous SNV E166K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 135943 chr11 58207462 58207462 T A rs146952949 OR5B12 Nonsynonymous SNV T55S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.94 135944 chr11 5862513 5862513 A T OR52E6 Synonymous SNV I205I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.106 135945 chr11 5862516 5862516 A G OR52E6 Synonymous SNV S204S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 135946 chr11 5862517 5862517 C T OR52E6 Nonsynonymous SNV S204N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.077 135947 chr11 5862525 5862525 A G rs755460609 OR52E6 Synonymous SNV G201G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.062 135948 chr16 24574565 24574565 G A RBBP6 Synonymous SNV E445E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 135949 chr11 2594126 2594126 G A rs761225039 KCNQ1 Synonymous SNV S277S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.03 135950 chr11 5878381 5878381 A G rs144459127 OR52E8 Synonymous SNV Y184Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.012 135951 chr11 36300107 36300107 G A rs150086428 COMMD9 Synonymous SNV A37A 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 Benign 15.87 135952 chr11 36597870 36597870 A G rs139113046 RAG1 Nonsynonymous SNV M1006V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 135953 chr11 36614215 36614215 T C rs145614809 RAG2 Nonsynonymous SNV M502V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.54 135954 chr16 2817529 2817529 G A rs771776567 SRRM2 Nonsynonymous SNV A2334T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 135955 chr11 47330851 47330851 A G MADD Synonymous SNV L1214L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.64 135956 chr11 60059843 60059843 C A rs144369515 MS4A4A Nonsynonymous SNV P63T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25 135957 chr16 28857585 28857585 G A rs751421456 TUFM Synonymous SNV T2T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.14 135958 chr11 31811461 31811464 TTTT - PAX6 K243Rfs*29 0.001 0.003 0 0 1 1 0 0 0 0 0 0 135959 chr16 2946524 2946524 G A rs747486710 FLYWCH2 Nonsynonymous SNV G25D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.8 135960 chr16 29821420 29821420 - GCGGCGGCAGCGGCA rs769299247 MAZ A143_V144insAAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 135961 chr16 29859222 29859222 G T rs151174471 MVP Nonsynonymous SNV G799V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11 135962 chr1 180904625 180904625 C T rs371418964 KIAA1614 Nonsynonymous SNV P527L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 135963 chr2 239342241 239342241 G A rs3739074 ASB1 Synonymous SNV P32P 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 13.15 135964 chr2 239353013 239353013 C T rs2290074 ASB1 Synonymous SNV H74H 0.006 0.003 0.014 3 7 1 0.008 4 0 0 0 0 12.95 135965 chr1 6653447 6653447 C T rs367791738 KLHL21 Nonsynonymous SNV R591Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.88 135966 chr11 36614521 36614521 C G rs140682926 RAG2 Nonsynonymous SNV D400H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 25.3 135967 chr11 61254662 61254662 C A PPP1R32 Nonsynonymous SNV S311R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.06 135968 chr11 4150358 4150358 G A rs201133430 RRM1 Nonsynonymous SNV V245I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 135969 chr1 95293114 95293114 C A rs34462882 SLC44A3 Synonymous SNV L74L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.404 135970 chr16 4606733 4606733 C T rs112579371 C16orf96 Synonymous SNV F81F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 135971 chr1 95538424 95538424 C T rs34364382 ALG14 Nonsynonymous SNV A11T 0.005 0.005 0.007 0 6 2 0 2 0 0 1 0 Benign/Likely benign 13.74 135972 chr1 197396762 197396762 C T rs151104285 CRB1 Synonymous SNV R657R 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.874 135973 chr1 100155199 100155199 G A rs11166298 PALMD Synonymous SNV P461P 0.003 0.005 0.014 3 4 2 0.008 4 0 0 0 0 Benign 0.434 135974 chr16 48226458 48226458 C T rs144318062 ABCC11 Synonymous SNV T893T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.52 135975 chr1 100335977 100335977 A G rs17121403 AGL Nonsynonymous SNV Q229R 0.008 0.008 0.014 7 9 3 0.018 4 1 0 0 0 Benign 9.795 135976 chr11 57958038 57958038 C T rs143165965 OR9Q2 Nonsynonymous SNV P26S 0.003 0 0 0 3 0 0 0 0 0 0 0 21 135977 chr1 103428312 103428312 G T rs78046647 COL11A1 Nonsynonymous SNV P858Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 135978 chr11 47256480 47256480 A C DDB2 Nonsynonymous SNV N292T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 135979 chr11 63885168 63885168 G A rs760952151 FLRT1 Nonsynonymous SNV V477M 0.003 0 0 0 3 0 0 0 0 0 0 0 13.19 135980 chr1 202288189 202288189 C A rs140080233 LGR6 Nonsynonymous SNV P781T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 135981 chr16 57468062 57468062 T A rs367825068 CIAPIN1 Nonsynonymous SNV E137D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.831 135982 chr11 64519958 64519958 T C rs139570786 PYGM Nonsynonymous SNV I425V 0.013 0.005 0.003 3 15 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.81 135983 chr1 110466227 110466227 A G CSF1 Synonymous SNV P328P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.022 135984 chr11 59575316 59575316 G A rs34696253 MRPL16 Nonsynonymous SNV S43F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 24.3 135985 chr11 64671067 64671067 C T rs147556338 ATG2A Nonsynonymous SNV R1169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 135986 chr1 111731379 111731379 C T rs148648710 DENND2D Synonymous SNV P345P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 135987 chr11 65349415 65349415 G A rs756516200 EHBP1L1 Synonymous SNV V424V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.694 135988 chr11 58391676 58391676 A G rs199862276 CNTF Nonsynonymous SNV Q95R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.018 135989 chr16 67965752 67965752 A G rs142161993 CTRL Synonymous SNV L2L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.069 135990 chr16 68056542 68056542 T C rs779525886 DDX28 Synonymous SNV Q188Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 135991 chr1 206224999 206224999 T C rs138202422 AVPR1B Nonsynonymous SNV W187R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 25.6 135992 chr1 206652404 206652404 G A rs17021877 IKBKE Nonsynonymous SNV A286T 0.006 0.003 0.017 2 7 1 0.005 5 0 0 0 0 19.49 135993 chr16 69727480 69727480 A G rs145602190 NFAT5 Nonsynonymous SNV Q1026R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 22.8 135994 chr11 59375990 59375990 T G rs149495826 OSBP Synonymous SNV T263T 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 5.059 135995 chr16 70506916 70506916 G C rs367854536 FCSK Synonymous SNV L479L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.035 135996 chr11 66062343 66062343 - GCTGGCGGA TMEM151A E212_H213insLAE 0.001 0 0 0 1 0 0 0 0 0 0 0 135997 chr16 711075 711075 G A rs377695532 WDR90 Nonsynonymous SNV R1139H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 135998 chr11 66241314 66241314 C T PELI3 Nonsynonymous SNV P146L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 135999 chr11 61196669 61196669 G A rs1034438538 CPSF7 Synonymous SNV D13D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.899 136000 chr11 61539031 61539031 A G rs767908100 MYRF Nonsynonymous SNV N267S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 136001 chr11 4881442 4881442 A G OR51H1 Nonsynonymous SNV V118A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 136002 chr1 215802298 215802298 A G rs111033266 USH2A Nonsynonymous SNV I5126T 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 12.46 136003 chr1 149880785 149880785 G A rs73006313 SV2A Synonymous SNV I446I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 15.14 136004 chr1 149902312 149902312 T G rs16836857 MTMR11 Nonsynonymous SNV Q459P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.96 136005 chr1 215990450 215990450 G A rs73090721 USH2A Synonymous SNV C3153C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.15 136006 chr1 216052206 216052206 C T rs59174500 USH2A Nonsynonymous SNV V2820I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.736 136007 chr1 149916185 149916185 C A rs56929499 OTUD7B Synonymous SNV P701P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 10.56 136008 chr1 149920888 149920888 G A rs16838449 OTUD7B Synonymous SNV D407D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 9.228 136009 chr3 35770965 35770965 C A rs757682903 ARPP21 Nonsynonymous SNV L412I 0.001 0 0 0 1 0 0 0 0 0 0 0 21 136010 chr1 220921909 220921909 C T rs114557644 MTARC2 Synonymous SNV L12L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 136011 chr1 151018566 151018566 G A rs114849704 BNIPL Nonsynonymous SNV R239H 0.002 0 0.01 0 2 0 0 3 0 0 0 0 25.1 136012 chr11 62886427 62886427 G C rs897730154 SLC22A24 Nonsynonymous SNV L263V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 136013 chr1 151735545 151735545 A G rs1196455 MRPL9 Synonymous SNV H77H 0.004 0.013 0.014 2 5 5 0.005 4 0 0 0 0 1.288 136014 chr16 84188375 84188375 C G rs144018942 DNAAF1 Nonsynonymous SNV N182K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 136015 chr11 640243 640243 A C rs372805272 DRD4 Synonymous SNV R332R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.389 136016 chr11 64067761 64067761 C T rs927858616 KCNK4-TEX40 0.002 0 0 0 2 0 0 0 0 0 0 0 8.626 136017 chr3 38768447 38768447 C T rs201054824 SCN10A Nonsynonymous SNV A815T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 34 136018 chr11 64897292 64897292 C T rs141712194 SYVN1 Nonsynonymous SNV A501T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 136019 chr16 87445167 87445167 G A rs761891613 ZCCHC14 Nonsynonymous SNV R917C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 136020 chr1 155013057 155013057 G C rs147253891 DCST1 Nonsynonymous SNV R138P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 136021 chr11 65384362 65384362 T G PCNX3 Nonsynonymous SNV I74S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 136022 chr1 155167890 155167890 G A rs142622242 THBS3 Synonymous SNV V612V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.54 136023 chr11 76506673 76506675 CTG - rs149062181 TSKU L9del 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 136024 chr1 155265086 155265086 T C rs956505039 PKLR Nonsynonymous SNV E172G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.23 136025 chr11 76928353 76928353 - GAGTA rs758101540 GDPD4 Frameshift insertion Q511Lfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 136026 chr1 230492955 230492955 C T rs200473497 PGBD5 Synonymous SNV K148K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.35 136027 chr1 230805215 230805215 G A rs34010781 COG2 Synonymous SNV T236T 0.003 0.008 0.007 6 3 3 0.015 2 0 0 0 0 Benign 13.51 136028 chr11 57076186 57076186 C A rs751561407 TNKS1BP1 Synonymous SNV G1333G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.48 136029 chr1 34401554 34401554 A G rs149329552 CSMD2 Synonymous SNV V173V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.36 136030 chr11 6567337 6567337 G A rs368809071 DNHD1 Nonsynonymous SNV S1723N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.6 136031 chr1 38274271 38274271 C T C1orf122 Nonsynonymous SNV P35L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 136032 chr3 47040358 47040358 G A rs373444282 NBEAL2 Nonsynonymous SNV D1091N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.7 136033 chr11 66082914 66082914 G C rs138390105 CD248 Nonsynonymous SNV Q529E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 136034 chr3 47165861 47165861 G A rs374799616 SETD2 Nonsynonymous SNV L45F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 136035 chr11 67174344 67174344 G A rs967962454 TBC1D10C Nonsynonymous SNV R131Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.1 136036 chr11 58893236 58893236 G C FAM111B Nonsynonymous SNV A526P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.166 136037 chr11 58920252 58920252 A T rs143839121 FAM111A Nonsynonymous SNV T371S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 136038 chr11 8953850 8953850 T G rs149524010 C11orf16 Nonsynonymous SNV E2D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 136039 chr11 694953 694976 GCGGCCGCGGCCGCCGCCGCCACA - rs752994574 DEAF1 V25_A32del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 136040 chr1 159827964 159827964 G A rs201612422 VSIG8 Synonymous SNV L116L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.292 136041 chr11 57799281 57799281 C T rs142616437 OR6Q1 Nonsynonymous SNV T286M 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 23.3 136042 chr11 92532965 92532965 C T rs139617275 FAT3 Synonymous SNV D2262D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 2.298 136043 chr1 160582292 160582292 G A rs35207844 SLAMF1 Nonsynonymous SNV P315S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 21.2 136044 chr1 161680679 161680679 C G FCRLA Nonsynonymous SNV P70R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 136045 chr11 96117675 96117675 T A rs139035220 CCDC82 Synonymous SNV P79P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.224 136046 chr17 16538001 16538001 G T ZNF624 Nonsynonymous SNV Q75K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 136047 chr17 16892249 16892249 C T rs59237774 LINC02090 0 0 0.007 0 0 0 0 2 0 0 0 0 7.608 136048 chr1 167096997 167096997 G A rs113448705 DUSP27 Nonsynonymous SNV D877N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.9 136049 chr11 71906438 71906438 C T rs76191655 FOLR1 Nonsynonymous SNV R98W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 136050 chr11 61277315 61277315 G A rs574679094 LRRC10B Nonsynonymous SNV R282H 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 19.58 136051 chr11 73076741 73076741 G A rs143630526 ARHGEF17 Nonsynonymous SNV R1915Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 136052 chr11 73078684 73078684 C T rs144429256 ARHGEF17 Synonymous SNV P2017P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.9 136053 chr11 74208090 74208090 G T rs192945527 LOC100287896 Nonsynonymous SNV R47I 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.835 136054 chr3 56598041 56598041 C T rs75201116 CCDC66 Synonymous SNV N111N 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 1.483 136055 chr1 49005361 49005361 C T AGBL4 Synonymous SNV R451R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 136056 chr11 62299293 62299293 C T rs374650181 AHNAK Nonsynonymous SNV V866M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25 136057 chr17 19605954 19605954 C T rs541718685 SLC47A2 Synonymous SNV P376P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.44 136058 chr3 56707689 56707689 A G rs11549487 TASOR Synonymous SNV S132S 0.003 0.018 0 3 4 7 0.008 0 0 0 0 0 8.019 136059 chr11 62439510 62439510 C T rs200284364 UQCC3 Nonsynonymous SNV T69I 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 Likely benign 24 136060 chr11 62439560 62439560 G A rs200710595 UQCC3 Nonsynonymous SNV G86S 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 Likely benign 14.88 136061 chr1 174244982 174244982 A G rs202068518 RABGAP1L Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.874 136062 chr11 75439929 75439929 C T rs576205474 MOGAT2 Nonsynonymous SNV R249W 0.003 0 0 0 3 0 0 0 0 0 0 0 20.6 136063 chr11 7627237 7627237 T G rs756385548 PPFIBP2 Nonsynonymous SNV S16R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.548 136064 chr11 62346473 62346473 C T rs760625974 TUT1 Synonymous SNV S240S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.99 136065 chr11 60775100 60775100 G A CD6 Nonsynonymous SNV E63K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 136066 chr1 248685312 248685312 G A rs370143527 OR2G6 Nonsynonymous SNV R122H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24 136067 chr12 107914323 107914323 C G rs545965414 BTBD11 Nonsynonymous SNV P399A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.565 136068 chr11 62457948 62457948 A G rs145649423 BSCL2 Nonsynonymous SNV L427P 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.61 136069 chr3 62253377 62253377 A G PTPRG Synonymous SNV K919K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.582 136070 chr11 78516349 78516349 C T TENM4 Nonsynonymous SNV D723N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136071 chr1 178854330 178854330 C T rs61758794 RALGPS2 Nonsynonymous SNV H342Y 0.002 0 0.01 0 2 0 0 3 0 0 0 0 23.3 136072 chr2 1488526 1488526 G A rs776864359 TPO Synonymous SNV P326P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.058 136073 chr11 77774947 77774947 G A rs150131716 THRSP Nonsynonymous SNV R7H 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 15.66 136074 chr1 181620575 181620575 C A rs201080304 CACNA1E Synonymous SNV S351S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.58 136075 chr1 181701978 181701978 G A rs201406071 CACNA1E Nonsynonymous SNV R900Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24 136076 chr11 8646317 8646317 T C rs372942025 TRIM66 Synonymous SNV S778S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.18 136077 chr11 8646358 8646358 G T rs11042015 TRIM66 Nonsynonymous SNV Q765K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.864 136078 chr11 64622104 64622104 C T EHD1 Nonsynonymous SNV D436N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 136079 chr11 8734253 8734253 A T rs149437355 DENND2B Nonsynonymous SNV S253T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 136080 chr11 8751946 8751946 G A rs112311214 DENND2B Synonymous SNV G297G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.309 136081 chr1 192778269 192778269 G A rs148489044 RGS2 Nonsynonymous SNV G23D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 8.879 136082 chr12 113638394 113638394 C T rs781254724 IQCD Synonymous SNV A318A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.84 136083 chr1 197065186 197065186 T C rs148818072 ASPM Nonsynonymous SNV I1392V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 136084 chr11 93460429 93460429 T C CEP295 Nonsynonymous SNV S2263P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 136085 chr17 33591509 33591509 C T rs141681707 SLFN5 Synonymous SNV G482G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.4 136086 chr1 197390150 197390150 G A rs144011428 CRB1 Nonsynonymous SNV V286I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.837 136087 chr2 20494190 20494190 T C rs151139479 PUM2 Nonsynonymous SNV N311D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 136088 chr12 120661524 120661524 T C PXN Nonsynonymous SNV Y118C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 136089 chr11 9090949 9090949 A T rs188205650 SCUBE2 Nonsynonymous SNV F204Y 0.009 0.008 0 0 10 3 0 0 0 0 0 0 24.4 136090 chr17 3524685 3524685 A G SHPK Synonymous SNV P223P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.023 136091 chr2 24303824 24303824 G A rs773149316 TP53I3 Nonsynonymous SNV R162W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.89 136092 chr1 201180114 201180114 - GCAGGTTATAGGAAGGATTTGGGGGTTCCTAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA IGFN1 G2039_A2040insVPKGMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLG 0.001 0 0 0 1 0 0 0 0 0 0 0 136093 chr2 24509091 24509091 T C rs545374077 ITSN2 Nonsynonymous SNV N618S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 136094 chr12 122248302 122248302 C T rs760978203 SETD1B Nonsynonymous SNV T484M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 136095 chr17 36714634 36714634 T A rs754940444 SRCIN1 Nonsynonymous SNV Q677L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 136096 chr17 36977159 36977159 G A rs375938320 CWC25 Synonymous SNV A62A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.79 136097 chr11 9598764 9598764 G A rs374597379 WEE1 Synonymous SNV A151A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 14.77 136098 chr11 66335085 66335085 G A rs771743743 CTSF Nonsynonymous SNV R121W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.3 136099 chr2 26405871 26405871 C G rs199966839 GAREM2 Nonsynonymous SNV R20G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 136100 chr11 66837996 66837996 G A rs34270544 RHOD Nonsynonymous SNV R78Q 0.006 0.005 0.02 4 7 2 0.01 6 0 0 0 0 17.39 136101 chr1 203037637 203037637 C T rs541077583 PPFIA4 Nonsynonymous SNV R1060W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136102 chr12 10562042 10562042 G A rs377544745 KLRC4 Nonsynonymous SNV L45F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 136103 chr2 28865790 28865790 G A rs112993516 PLB1 Nonsynonymous SNV E1403K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 136104 chr2 29083992 29083992 A T rs146514468 TRMT61B Nonsynonymous SNV F329I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 136105 chr11 66062629 66062629 C A rs144115959 TMEM151A Synonymous SNV A304A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 2.143 136106 chr2 29092735 29092735 G A rs144849672 TRMT61B Nonsynonymous SNV R137C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 136107 chr2 29237383 29237383 T C rs116725693 TOGARAM2 Nonsynonymous SNV C334R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 136108 chr2 29245120 29245120 C T rs772507909 TOGARAM2 Nonsynonymous SNV S431L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 136109 chr2 29416357 29416357 G A rs1881422 ALK Synonymous SNV N464N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 8.73 136110 chr11 67133101 67133101 G C rs1001719096 CLCF1 Nonsynonymous SNV L52V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.3 136111 chr12 132393710 132393710 C T rs780309745 ULK1 Synonymous SNV Y198Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.56 136112 chr11 74800379 74800379 C T rs778499204 OR2AT4 Nonsynonymous SNV R127H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.1 136113 chr12 109185905 109185905 G A rs749889322 SSH1 Stop gain Q695X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.448 136114 chr11 75141041 75141041 G A rs769016500 KLHL35 Nonsynonymous SNV R212C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 136115 chr1 110212180 110212180 A G rs753743251 GSTM2 Nonsynonymous SNV Y116C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 136116 chr1 214819009 214819009 T C rs749868979 CENPF Synonymous SNV H2032H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 136117 chr17 40125649 40125649 C T rs199970993 CNP Nonsynonymous SNV R305W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 136118 chr17 41231356 41231356 A G rs374519494 BRCA1 Nonsynonymous SNV I1473T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.484 136119 chr12 119909828 119909828 G A rs144740799 CCDC60 Nonsynonymous SNV R67H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.87 136120 chr1 222802652 222802652 T C rs189013781 MIA3 Nonsynonymous SNV M697T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 136121 chr12 16111230 16111230 C T rs369289804 DERA Nonsynonymous SNV R80W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136122 chr12 120616721 120616721 C T GCN1 Synonymous SNV V153V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 136123 chr11 821778 821778 G A rs145999340 PNPLA2 Nonsynonymous SNV R113H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 34 136124 chr17 42982430 42982430 C T FAM187A Synonymous SNV F411F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.375 136125 chr12 1910268 1910268 A G CACNA2D4 Nonsynonymous SNV Y937H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 136126 chr17 4448389 4448389 G T rs72830101 MYBBP1A Nonsynonymous SNV R748S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 22.5 136127 chr17 4448397 4448397 T C rs72830102 MYBBP1A Nonsynonymous SNV E745G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 23.1 136128 chr2 61304118 61304118 G A rs780724148 KIAA1841 Synonymous SNV P19P 0 0.003 0 0 0 1 0 0 0 0 0 0 12 136129 chr11 8111639 8111639 G A rs61733961 TUB Synonymous SNV Q38Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 9.81 136130 chr12 118511726 118511726 C T rs9668527 VSIG10 Nonsynonymous SNV V333M 0.009 0.013 0 2 11 5 0.005 0 0 0 0 0 27.8 136131 chr11 82595898 82595898 A T PRCP Stop gain C66X 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 136132 chr2 63631538 63631538 C T rs376164426 WDPCP Synonymous SNV S201S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.18 136133 chr12 120189861 120189861 T C rs375607396 CIT Synonymous SNV A924A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 3.219 136134 chr12 122685140 122685140 - GGGGGAGAAAGACAAGAAAGG rs752145826 LRRC43 G525_K526insGEKDKKG 0.01 0.018 0.014 2 12 7 0.005 4 0 0 0 0 136135 chr12 122735532 122735532 G A rs775646535 VPS33A Nonsynonymous SNV R189W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 136136 chr11 8670081 8670081 G A rs756052877 TRIM66 Nonsynonymous SNV P58S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.035 136137 chr12 123214567 123214567 G T HCAR1 Nonsynonymous SNV T107K 0.003 0 0 0 3 0 0 0 0 0 0 0 29.8 136138 chr12 123780587 123780587 A G rs750909298 SBNO1 Synonymous SNV I1350I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.703 136139 chr12 2719790 2719790 C T rs56394008 CACNA1C Synonymous SNV Y1214Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.34 136140 chr1 228290705 228290705 T C C1orf35 Nonsynonymous SNV D47G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 136141 chr12 32134718 32134720 CCT - rs550353898 RESF1 P281del 0.003 0 0 0 3 0 0 0 0 0 0 0 136142 chr1 228494613 228494613 C T rs750723281 OBSCN Nonsynonymous SNV R3980W 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 136143 chr11 93432357 93432357 A G CEP295 Nonsynonymous SNV I1427V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 136144 chr17 48626761 48626761 G A SPATA20 Nonsynonymous SNV V243M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 136145 chr11 9462003 9462003 G A rs61729812 IPO7 Synonymous SNV E899E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.93 136146 chr11 94340692 94340692 T C rs370900833 PIWIL4 Nonsynonymous SNV C576R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.6 136147 chr12 129566484 129566484 C T rs773542582 TMEM132D Synonymous SNV T581T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 15.94 136148 chr17 48941131 48941131 C T TOB1 Nonsynonymous SNV R83H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 136149 chr1 230314002 230314002 C T GALNT2 Synonymous SNV D17D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 136150 chr17 50939541 50939541 G C rs78766611 LINC02089 0 0 0.007 0 0 0 0 2 0 0 1 0 0.589 136151 chr17 50939564 50939564 A T rs76215571 LINC02089 0 0 0.014 0 0 0 0 4 0 0 2 0 0.506 136152 chr17 50939575 50939575 G C rs75089927 LINC02089 0 0 0.02 0 0 0 0 6 0 0 3 0 0.09 136153 chr11 95657039 95657039 C G rs879253940 MTMR2 Nonsynonymous SNV S27T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.87 136154 chr2 74652057 74652057 G A rs144082439 WDR54 Nonsynonymous SNV R145Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.98 136155 chr2 75107538 75107538 A C HK2 Nonsynonymous SNV Q471P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 136156 chr12 13237922 13237922 G C rs372526990 GSG1 Synonymous SNV S247S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.474 136157 chr12 132399002 132399002 C G rs777407961 ULK1 Synonymous SNV P451P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.545 136158 chr12 124840093 124840093 T C NCOR2 Nonsynonymous SNV H1079R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.6 136159 chr3 169574631 169574631 C T LRRC31 Nonsynonymous SNV E117K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 136160 chr2 79254178 79254178 C T rs147133557 REG3G Nonsynonymous SNV P72S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.146 136161 chr2 80801296 80801296 C T rs200341629 CTNNA2 Nonsynonymous SNV R263C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 136162 chr17 56056605 56056616 TGCTGCTGCTGC - VEZF1 Q351_Q354del 0 0 0.003 0 0 0 0 1 0 0 0 0 136163 chr2 85836126 85836126 C T rs184488528 C2orf68 Nonsynonymous SNV R148Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22 136164 chr12 133810745 133810745 G T ANHX Synonymous SNV A66A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.062 136165 chr12 10005935 10005935 G A rs142115371 CLEC2B Synonymous SNV T138T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.253 136166 chr12 16753766 16753766 G A rs758224866 LMO3 Nonsynonymous SNV P10L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 136167 chr3 183822642 183822642 A C rs140761007 HTR3E Nonsynonymous SNV K179Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.737 136168 chr1 157665830 157665830 T C rs140279920 FCRL3 Nonsynonymous SNV I378V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.152 136169 chr12 27148293 27148293 C T rs767330020 TM7SF3 Synonymous SNV R189R 0.004 0 0 0 5 0 0 0 0 0 0 0 17.42 136170 chr12 14018893 14018893 G A GRIN2B Nonsynonymous SNV R84C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Likely benign 33 136171 chr12 27842052 27842052 G A rs61730962 PPFIBP1 Synonymous SNV L720L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 11.7 136172 chr1 246719878 246719878 G A rs139845851 TFB2M Synonymous SNV F234F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.18 136173 chr2 101606764 101606764 G A rs200722501 NPAS2 Nonsynonymous SNV R625H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.34 136174 chr3 186953667 186953667 G A rs200393551 MASP1 Synonymous SNV S664S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.346 136175 chr12 104459976 104459976 A G rs758758087 HCFC2 Synonymous SNV R65R 0 0 0 2 0 0 0.005 0 0 0 0 0 6.684 136176 chr3 186980428 186980428 C T rs150600860 MASP1 Synonymous SNV V106V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.4 136177 chr12 2904333 2904333 G A FKBP4 Nonsynonymous SNV E10K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.91 136178 chr3 194336328 194336328 G A rs760114358 TMEM44 Synonymous SNV T294T 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 10.71 136179 chr12 11324064 11324064 G T rs868203738 SMIM10L1 Nonsynonymous SNV A37S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 19.05 136180 chr12 3747546 3747546 G C rs768046618 CRACR2A Nonsynonymous SNV T449R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.68 136181 chr2 113481305 113481305 C T rs773063927 NT5DC4 Nonsynonymous SNV P202S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.88 136182 chr12 2774833 2774833 T C rs41276710 CACNA1C Synonymous SNV D1484D 0.01 0.005 0.007 0 12 2 0 2 0 0 0 0 Benign 7.29 136183 chr17 72694762 72694762 T G rs566998097 CD300LF 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 3.451 136184 chr17 72759529 72759529 G A rs41282067 SLC9A3R1 Synonymous SNV G209G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.62 136185 chr12 111885295 111885295 G A rs148636776 SH2B3 Nonsynonymous SNV E193K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 34 136186 chr4 853404 853404 G A rs79742312 GAK Synonymous SNV S1012S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 136187 chr12 332389 332389 G A rs745487044 SLC6A13 Synonymous SNV Y349Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.33 136188 chr4 905492 905492 A G rs778271802 GAK Synonymous SNV A117A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.863 136189 chr4 964822 964822 C T DGKQ Nonsynonymous SNV V104M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 136190 chr12 113867023 113867023 C T rs143423751 SDSL Synonymous SNV T91T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 12.94 136191 chr12 117657982 117657982 G A rs373366434 NOS1 Synonymous SNV D1020D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.2 136192 chr12 122691428 122691428 G A rs147657286 B3GNT4 Synonymous SNV Q185Q 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 6.95 136193 chr2 133427659 133427659 G T LYPD1 Nonsynonymous SNV P8T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 136194 chr17 7403990 7403990 G A rs765136696 POLR2A Synonymous SNV S568S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.843 136195 chr12 123067349 123067349 A G rs374190938 KNTC1 Nonsynonymous SNV Q1027R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 136196 chr12 123286253 123286253 C T CCDC62 Synonymous SNV N520N 0.009 0.003 0 0 10 1 0 0 0 0 0 0 12.85 136197 chr12 49298200 49298200 A G rs771852449 CCDC65 Synonymous SNV A27A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.17 136198 chr12 4460498 4460498 A G rs150484303 TIGAR Synonymous SNV E112E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.528 136199 chr17 7416821 7416821 G A rs145007034 POLR2A Synonymous SNV P1746P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 136200 chr12 49498306 49498306 G A rs151030186 LMBR1L Synonymous SNV S62S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.96 136201 chr2 135908007 135908007 G A rs7595725 RAB3GAP1 Synonymous SNV S664S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 11.43 136202 chr2 135965002 135965002 A G rs6721694 ZRANB3 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 25.2 136203 chr2 135988224 135988224 C T rs61732190 ZRANB3 Nonsynonymous SNV V605M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 0.002 136204 chr2 136545910 136545910 G T rs114828879 LCT Nonsynonymous SNV P1923Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.02 136205 chr4 2306774 2306774 G A rs1044186391 ZFYVE28 Synonymous SNV A401A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.747 136206 chr12 48114611 48114611 C A rs190810459 ENDOU Nonsynonymous SNV D35Y 0.016 0.005 0 6 19 2 0.015 0 0 1 0 0 23.5 136207 chr12 50746872 50746872 G A rs371233378 FAM186A Nonsynonymous SNV A1248V 0.003 0 0 0 4 0 0 0 0 0 0 0 13.82 136208 chr12 57864635 57864635 G A GLI1 Synonymous SNV Q576Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 136209 chr17 76094446 76094446 G A rs370201986 TNRC6C Synonymous SNV S1443S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 136210 chr4 3444616 3444616 C G rs199767749 HGFAC Nonsynonymous SNV S92W 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.12 136211 chr17 76120673 76120673 C A rs138860970 TMC6 Nonsynonymous SNV V275F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 18.69 136212 chr12 122392064 122392064 C T rs61952863 WDR66 Synonymous SNV I453I 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 15.73 136213 chr12 129285477 129285477 C T SLC15A4 Nonsynonymous SNV A446T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 136214 chr12 6220105 6220105 G A rs372664002 VWF Nonsynonymous SNV L84F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 136215 chr12 122701322 122701322 A G rs980422753 DIABLO Nonsynonymous SNV I40T 0 0 0 1 0 0 0.003 0 0 0 0 0 28 136216 chr4 5733236 5733236 C G rs146729456 EVC Nonsynonymous SNV P157A 0.012 0.013 0.007 2 14 5 0.005 2 0 0 0 0 Benign/Likely benign 16.54 136217 chr12 126138756 126138756 C A rs61940807 TMEM132B Nonsynonymous SNV L425M 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 23.7 136218 chr2 159499113 159499113 A G rs144866707 PKP4 Nonsynonymous SNV D604G 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 27.7 136219 chr12 12629815 12629815 G T DUSP16 Synonymous SNV G650G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.302 136220 chr12 13136711 13136711 C T GPRC5D-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.114 136221 chr2 163123994 163123994 C T rs202009944 IFIH1 Nonsynonymous SNV G965S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 136222 chr12 125453413 125453413 C T DHX37 Synonymous SNV K431K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.98 136223 chr17 78083834 78083834 G A rs201409613 GAA Nonsynonymous SNV G473S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.7 136224 chr12 6707095 6707095 G A rs572246464 CHD4 Synonymous SNV P612P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 136225 chr17 78184616 78184616 G A rs751150121 SGSH Nonsynonymous SNV R382W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 136226 chr12 52601937 52601937 C T rs768479237 C12orf80 0.002 0 0 0 2 0 0 0 0 0 0 0 13.83 136227 chr12 133202740 133202740 C T rs5745068 POLE Nonsynonymous SNV R2165H 0.014 0.008 0 4 16 3 0.01 0 1 0 0 0 Benign/Likely benign 33 136228 chr12 7052996 7052996 T C rs782678781 RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 136229 chr12 53456021 53456021 C T rs915131091 TNS2 Nonsynonymous SNV P1230L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136230 chr12 7277303 7277303 C T rs147851398 RBP5 Synonymous SNV E92E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.64 136231 chr12 14591098 14591098 C T rs752794706 ATF7IP Nonsynonymous SNV A608V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 136232 chr17 79202839 79202839 C T rs376025130 TEPSIN Synonymous SNV A489A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 136233 chr12 54858949 54858949 C T rs199823357 GTSF1 Nonsynonymous SNV D7N 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.1 136234 chr12 16507311 16507311 A G rs148472066 MGST1 Nonsynonymous SNV K42R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 136235 chr2 32460512 32460512 A G rs34716166 NLRC4 Synonymous SNV L249L 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 Benign/Likely benign 9.466 136236 chr12 20522835 20522835 T C rs138393409 PDE3A Nonsynonymous SNV L206P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.9 136237 chr12 56031464 56031464 G A rs143887647 OR10P1 Synonymous SNV P263P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.735 136238 chr12 26217990 26217990 G A rs145358914 RASSF8 Synonymous SNV E221E 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 5.967 136239 chr12 83251314 83251314 C T rs138847027 TMTC2 Synonymous SNV V203V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.68 136240 chr2 179518979 179518979 A G rs2099130 TTN Nonsynonymous SNV V12779A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.175 136241 chr2 179540461 179540461 G T rs182428755 TTN Nonsynonymous SNV P11492T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.67 136242 chr2 179549988 179549988 G A rs146400809 TTN Nonsynonymous SNV P9577L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 136243 chr12 2908330 2908330 C A rs56196860 FKBP4 Nonsynonymous SNV N197K 0.013 0.018 0.031 7 15 7 0.018 9 0 0 0 0 10.36 136244 chr12 55615412 55615412 T C rs772108215 OR10A7 Nonsynonymous SNV S202P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 136245 chr18 10763079 10763079 A G rs200998919 PIEZO2 Synonymous SNV Y963Y 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Likely benign 0.222 136246 chr12 56234636 56234636 C G MMP19 Nonsynonymous SNV R112P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136247 chr12 3039495 3039495 C A TULP3 Stop gain S159X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 136248 chr12 3040290 3040290 A T rs372314358 TULP3 Nonsynonymous SNV S194C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.1 136249 chr12 56572295 56572295 C T rs749806009 SMARCC2 Synonymous SNV G401G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 136250 chr2 44174889 44174889 T C LRPPRC Nonsynonymous SNV K649R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 136251 chr12 31440675 31440675 T C rs200248729 SINHCAF Synonymous SNV Q133Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.429 136252 chr12 31820844 31820844 G A rs140131797 ETFBKMT Nonsynonymous SNV V237I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 3.511 136253 chr2 45807064 45807064 T C SRBD1 Nonsynonymous SNV E341G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 136254 chr12 96354334 96354334 G A rs376012943 AMDHD1 Nonsynonymous SNV R249H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.8 136255 chr12 57424087 57424087 C G rs200633451 MYO1A Nonsynonymous SNV R833P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 136256 chr12 96948464 96948464 A G rs772488985 CFAP54 Nonsynonymous SNV H765R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.796 136257 chr12 33031350 33031350 C G rs141438322 PKP2 Nonsynonymous SNV S155T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Uncertain significance 24 136258 chr12 40697880 40697880 G A rs767609721 LRRK2 Nonsynonymous SNV A1241T 0 0.008 0 2 0 3 0.005 0 0 0 0 0 Uncertain significance 23.8 136259 chr2 186653633 186653633 G A rs139442712 FSIP2 Synonymous SNV T590T 0 0.005 0 0 0 2 0 0 0 0 0 0 9.399 136260 chr2 55276899 55276899 C T rs192552854 RTN4 Nonsynonymous SNV G180S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 136261 chr12 6665074 6665074 G A rs748939172 IFFO1 Nonsynonymous SNV A41V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.45 136262 chr13 103383533 103383533 T C rs990028031 CCDC168 Nonsynonymous SNV D6505G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 136263 chr2 63272551 63272551 A T EHBP1 Nonsynonymous SNV E1133D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 136264 chr13 103385023 103385023 C T rs750608320 CCDC168 Synonymous SNV P6008P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.08 136265 chr1 216219828 216219828 T C rs56245532 USH2A Synonymous SNV L2090L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 7.608 136266 chr12 7045900 7045900 - CAGCAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 136267 chr12 66923692 66923692 C T rs199791738 GRIP1 Nonsynonymous SNV V141M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 136268 chr18 46284536 46284536 C T rs116794939 CTIF Synonymous SNV I277I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.17 136269 chr2 196912090 196912090 A T rs773510488 DNAH7 Synonymous SNV L128L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 136270 chr18 48703311 48703311 G A rs192502803 MEX3C Synonymous SNV L464L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.757 136271 chr12 70330260 70330260 C T rs61754226 MYRFL Nonsynonymous SNV P691L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.546 136272 chr12 49110353 49110353 A G rs201190553 CCNT1 Nonsynonymous SNV S36P 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 23.6 136273 chr2 202358234 202358234 T A rs202076568 C2CD6 Nonsynonymous SNV I944F 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 19.1 136274 chr13 113817325 113817325 G A rs199755961 PROZ Nonsynonymous SNV G88S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 136275 chr2 73491493 73491493 G C rs372626007 FBXO41 Synonymous SNV A573A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.168 136276 chr12 50467704 50467704 T C rs565901656 ASIC1 Nonsynonymous SNV Y113H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.9 136277 chr12 75816814 75816814 - ACC GLIPR1L2 D239_K240insH 0.001 0 0 0 1 0 0 0 0 0 0 0 136278 chr12 76443542 76443542 C T rs187127328 NAP1L1 Synonymous SNV A298A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 136279 chr2 204111630 204111630 A G rs928420899 CYP20A1 Nonsynonymous SNV N92S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 136280 chr2 79254949 79254949 G A rs61740756 REG3G Nonsynonymous SNV G71E 0.006 0.01 0.014 5 7 4 0.013 4 0 0 0 0 Benign 14.99 136281 chr2 79384708 79384708 C T rs114456659 REG3A Synonymous SNV S150S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.14 136282 chr12 51279065 51279065 A G rs770964354 TMPRSS12 Nonsynonymous SNV H230R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.1 136283 chr12 80632731 80632731 G A rs138795425 OTOGL Synonymous SNV P297P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 13.08 136284 chr2 80530016 80530016 G T rs141798518 LRRTM1 Nonsynonymous SNV T310N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.7 136285 chr12 80735904 80735904 T A rs61729710 OTOGL Nonsynonymous SNV L1734I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 24.3 136286 chr12 51771098 51771098 A T rs753412583 GALNT6 Nonsynonymous SNV I182N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 136287 chr12 52307115 52307115 C T rs141429164 ACVRL1 Synonymous SNV N98N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 15.24 136288 chr12 80936029 80936029 T C rs61729273 PTPRQ Nonsynonymous SNV Y1031H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.275 136289 chr12 52627153 52627153 C A rs142083292 KRT7 Nonsynonymous SNV R25S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 136290 chr2 86678235 86678235 C T rs149635248 KDM3A Nonsynonymous SNV P118S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.572 136291 chr12 88481664 88481664 G T rs181121175 CEP290 Synonymous SNV R1363R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 136292 chr2 88828733 88828733 C T rs142818036 TEX37 Nonsynonymous SNV T95M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.72 136293 chr2 216964782 216964782 G C rs193007190 TMEM169 Nonsynonymous SNV E137D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.1 136294 chr2 216965046 216965046 C T rs61732364 TMEM169 Synonymous SNV L225L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.28 136295 chr18 76886325 76886325 A T rs138177421 ATP9B Nonsynonymous SNV Q206L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.77 136296 chr18 77477994 77477994 C T rs148053048 CTDP1 Nonsynonymous SNV R680C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 31 136297 chr2 106509501 106509501 G A rs147922486 NCK2 Nonsynonymous SNV V338M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 136298 chr19 1010807 1010807 G T rs1058810 TMEM259 Nonsynonymous SNV P469T 0.003 0 0.02 4 3 0 0.01 6 0 0 0 0 10.65 136299 chr13 111109257 111109257 G C rs762942559 COL4A2-AS2 Nonsynonymous SNV T272R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.554 136300 chr2 113514026 113514026 T C rs34358218 CKAP2L Nonsynonymous SNV S143G 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 0.002 136301 chr13 110435756 110435756 C G rs201499247 IRS2 Nonsynonymous SNV G882A 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 Likely benign 0.001 136302 chr13 110435766 110435766 C T rs549588978 IRS2 Nonsynonymous SNV G879S 0.006 0.013 0.003 1 7 5 0.003 1 0 0 0 0 Likely benign 0.009 136303 chr12 56708645 56708645 G A CNPY2 Nonsynonymous SNV S65L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 136304 chr12 57556198 57556198 C T rs145618022 LRP1 Synonymous SNV R767R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 16.42 136305 chr13 114058418 114058423 GTTCCC - LOC101928841 R1361_E1362del 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 136306 chr13 114058441 114058441 C T rs56193086 LOC101928841 Nonsynonymous SNV G1355E 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 1.468 136307 chr13 114058444 114058444 T A LOC101928841 Nonsynonymous SNV K1354I 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 1.944 136308 chr13 114058446 114058446 C G LOC101928841 Nonsynonymous SNV Q1353H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.77 136309 chr13 111144513 111144513 C T COL4A2 Nonsynonymous SNV P1184L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 136310 chr13 52603266 52603266 T A rs144752647 UTP14C Nonsynonymous SNV V109D 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Uncertain significance 26.5 136311 chr13 114325855 114325855 C T rs117878269 GRK1 Nonsynonymous SNV P290L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.571 136312 chr13 114434220 114434220 C G rs145195020 GRK1 Synonymous SNV G366G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.046 136313 chr13 114541151 114541151 G A GAS6 Synonymous SNV C160C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.137 136314 chr12 58163175 58163175 T C METTL1 Nonsynonymous SNV Y134C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 136315 chr12 5841728 5841728 A C rs78897473 ANO2 Synonymous SNV A501A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.005 136316 chr19 10935741 10935741 C T rs2229919 DNM2 Synonymous SNV N630N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.5 136317 chr13 113980072 113980074 CTC - rs561227747 GRTP1 E275del 0.001 0 0 0 1 0 0 0 0 0 0 0 136318 chr12 58016837 58016837 A G rs117180202 SLC26A10 Nonsynonymous SNV I324V 0.002 0 0 7 2 0 0.018 0 0 0 0 0 3.183 136319 chr13 78272259 78272259 C T rs779027987 SLAIN1 Nonsynonymous SNV P71S 0.005 0.005 0 3 6 2 0.008 0 1 1 0 1 7.723 136320 chr13 79176104 79176104 C A rs754365572 POU4F1 Nonsynonymous SNV A236S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 13.4 136321 chr13 24411714 24411714 C T rs748535077 MIPEP Nonsynonymous SNV R507H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136322 chr13 96546850 96546850 G A rs143508056 UGGT2 Stop gain R941X 0.004 0 0 2 5 0 0.005 0 0 0 0 0 36 136323 chr13 99045957 99045957 G T rs371310874 FARP1 Synonymous SNV S383S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.711 136324 chr19 11978519 11978519 - T rs748808041 ZNF439 Frameshift insertion P77Tfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 136325 chr19 11978520 11978520 A C rs769169207 ZNF439 Synonymous SNV G76G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 136326 chr19 12146526 12146526 A G rs62109814 ZNF433-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 5.064 136327 chr2 149447876 149447876 G A rs747919551 EPC2 Nonsynonymous SNV V83I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 136328 chr19 12384238 12384238 C T ZNF44 Nonsynonymous SNV E246K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 136329 chr2 234978612 234978612 C A rs750842592 SPP2 Stop gain Y197X 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 136330 chr13 27255437 27255437 G A rs7332838 WASF3 Synonymous SNV P318P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.791 136331 chr2 155252623 155252623 G A rs113979307 GALNT13 Nonsynonymous SNV R426H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 136332 chr19 14580619 14580619 G A rs757979289 PKN1 Nonsynonymous SNV V737I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 136333 chr12 69983450 69983450 A G rs149575738 CCT2 Nonsynonymous SNV D164G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 28.3 136334 chr2 238289669 238289669 C A rs34934127 COL6A3 Nonsynonymous SNV A189S 0.008 0.003 0.01 0 9 1 0 3 0 0 0 0 Benign/Likely benign 23.3 136335 chr12 7295531 7295531 G A rs367939912 CLSTN3 Nonsynonymous SNV R536H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 136336 chr2 238449505 238449505 C T rs58256353 MLPH Nonsynonymous SNV P308S 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 0.056 136337 chr2 162280042 162280042 G A rs759895872 TBR1 Synonymous SNV A451A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.03 136338 chr19 15565218 15565218 G A RASAL3 Nonsynonymous SNV A705V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 136339 chr13 37679075 37679075 T C rs199770223 CSNK1A1L Nonsynonymous SNV R107G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 136340 chr12 80632673 80632673 C T rs147195954 OTOGL Nonsynonymous SNV S278L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.084 136341 chr13 41705083 41705083 T C KBTBD6 Nonsynonymous SNV N522S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.985 136342 chr12 80865969 80865969 G A PTPRQ Synonymous SNV A203A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.13 136343 chr2 242066165 242066165 A G rs201982321 PASK Nonsynonymous SNV L722P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 25.3 136344 chr13 46808371 46808371 C T rs573022567 LRRC63 Nonsynonymous SNV R293C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.9 136345 chr2 172563757 172563757 C T DYNC1I2 Nonsynonymous SNV R81C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 136346 chr19 17119316 17119316 G A rs753296574 CPAMD8 Synonymous SNV C186C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.337 136347 chr2 176973864 176973864 A C HOXD11 Nonsynonymous SNV L337F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 136348 chr12 85413412 85413412 T C rs61735122 TSPAN19 Nonsynonymous SNV Q148R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 136349 chr12 9087059 9087059 A G rs149376854 PHC1 Synonymous SNV G746G 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 6.517 136350 chr2 179399417 179399417 T C rs201246720 TTN Synonymous SNV L24910L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.901 136351 chr13 52971924 52971924 A G rs200340193 THSD1 Nonsynonymous SNV L155P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 136352 chr12 95397391 95397391 G A rs141719682 NDUFA12 Synonymous SNV G22G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.82 136353 chr13 96329569 96329569 C T rs200556669 DNAJC3 Synonymous SNV V20V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Likely benign 18.1 136354 chr13 98658464 98658464 A G IPO5 Synonymous SNV K526K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.481 136355 chr3 9970030 9970030 C T rs143600903 IL17RC Stop gain Q267X 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 136356 chr13 99083304 99083304 C T rs61730891 FARP1 Nonsynonymous SNV A638V 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 24 136357 chr2 182413447 182413447 G A rs201231831 CERKL Nonsynonymous SNV R232W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 136358 chr19 18332997 18332997 C T rs759923759 PDE4C Nonsynonymous SNV D95N 0 0 0.003 0 0 0 0 1 0 0 0 0 25 136359 chr14 100759690 100759690 C T rs200054689 SLC25A29 Nonsynonymous SNV E35K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.48 136360 chr14 23313633 23313633 G A rs17880989 MMP14 Nonsynonymous SNV M355I 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 136361 chr3 12586798 12586798 G A rs760067179 MKRN2OS Nonsynonymous SNV H56Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 136362 chr2 28808688 28808688 C T rs372337578 PLB1 Synonymous SNV I587I 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.09 136363 chr3 12623379 12623379 T C rs762121812 MKRN2 Synonymous SNV H304H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.808 136364 chr13 100634566 100634566 G T ZIC2 Nonsynonymous SNV G83V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.29 136365 chr3 12854835 12854835 T C rs182712663 CAND2 Synonymous SNV S225S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 2.983 136366 chr13 101735158 101735158 A G NALCN 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 136367 chr13 100637720 100637720 G T rs769562871 ZIC2 Synonymous SNV A461A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.621 136368 chr2 29259606 29259606 C T rs150485801 TOGARAM2 Nonsynonymous SNV A682V 0.004 0 0 3 5 0 0.008 0 0 0 0 0 12.48 136369 chr19 19823621 19823621 G A rs200177162 ZNF14 Nonsynonymous SNV R157C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 136370 chr14 23857395 23857395 G T rs727503234 MYH6 Nonsynonymous SNV A1443D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 136371 chr14 105052848 105052848 G A rs77768182 C14orf180 Synonymous SNV A27A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.711 136372 chr2 198436886 198436886 C T rs115896530 RFTN2 Nonsynonymous SNV R451H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.844 136373 chr19 2427439 2427439 G A rs375431261 TIMM13 Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 136374 chr13 111109205 111109205 - TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG rs776851612 COL4A2-AS2 T288_Q289insHGISPTDAWGPTQT 0.003 0.029 0 0 4 11 0 0 2 5 0 0 136375 chr3 32586491 32586491 C T rs141416745 DYNC1LI1 Nonsynonymous SNV V149I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.9 136376 chr3 32776326 32776326 A G rs754552617 CNOT10 Nonsynonymous SNV M458V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 15.9 136377 chr13 113729378 113729378 G A rs145260894 MCF2L Nonsynonymous SNV A357T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.3 136378 chr3 33868107 33868107 T G rs111356602 PDCD6IP Nonsynonymous SNV L251W 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 10.22 136379 chr13 110436296 110436296 - CGG rs748676956 IRS2 A701_V702insA 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 136380 chr13 113832596 113832596 G A rs375229185 PCID2 Nonsynonymous SNV R374C 0.001 0.005 0.01 1 1 2 0.003 3 0 0 1 0 8.58 136381 chr13 114062336 114062336 C T rs193114203 LOC101928841 Nonsynonymous SNV E57K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.87 136382 chr2 203130689 203130689 G C rs1015032964 NOP58 Nonsynonymous SNV V9L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.664 136383 chr13 114018184 114018184 T G rs200144497 GRTP1 Nonsynonymous SNV D25A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.5 136384 chr2 44999173 44999173 A C CAMKMT 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 136385 chr2 204154519 204154519 C G rs779315223 CYP20A1 Nonsynonymous SNV R168G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 136386 chr3 37096638 37096638 A G rs143178676 LRRFIP2 Nonsynonymous SNV I309T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 136387 chr19 34916923 34916923 A C rs565953247 PDCD2L Synonymous SNV L323L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.857 136388 chr13 113210540 113210540 - A rs539288145 TUBGCP3 0.011 0.013 0.003 3 13 5 0.008 1 0 0 0 0 136389 chr13 23927963 23927963 G A rs146852400 SACS Nonsynonymous SNV H569Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.29 136390 chr13 114062393 114062393 G A rs765077517 LOC101928841 Nonsynonymous SNV R38W 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 5.417 136391 chr19 35741258 35741258 C T rs141731488 LSR Synonymous SNV Y98Y 0.008 0 0.01 2 9 0 0.005 3 0 0 0 0 Benign 7.996 136392 chr19 35898744 35898744 C T rs184791204 LINC01531 0 0 0.007 0 0 0 0 2 0 0 0 0 7.836 136393 chr13 25348979 25348979 G A rs199849731 RNF17 Nonsynonymous SNV R85H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 8.701 136394 chr13 24876818 24876818 C T rs146852890 SPATA13 Synonymous SNV V482V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.16 136395 chr14 52937312 52937312 T C rs61738564 TXNDC16 Nonsynonymous SNV I462V 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 0.009 136396 chr13 20426227 20426227 C T rs761543525 ZMYM5 Nonsynonymous SNV G32R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 136397 chr14 53010259 53010259 T C rs202214702 TXNDC16 Nonsynonymous SNV N6S 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 0.001 136398 chr19 3623941 3623941 C T rs778236462 CACTIN Synonymous SNV A129A 0 0 0.01 0 0 0 0 3 0 0 0 0 13.57 136399 chr14 53133134 53133134 A G rs34388088 ERO1A Synonymous SNV A196A 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 10.99 136400 chr14 55227172 55227172 G A SAMD4A Synonymous SNV E81E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.283 136401 chr13 31287880 31287880 C T rs767862980 ALOX5AP Synonymous SNV H6H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.1 136402 chr13 37581147 37581147 C T rs148720041 EXOSC8 Synonymous SNV L142L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.08 136403 chr3 46758985 46758985 G A rs148134755 PRSS50 Synonymous SNV P83P 0.003 0.005 0 0 3 2 0 0 0 1 0 0 1.378 136404 chr3 47456122 47456122 C A rs140861904 SCAP Synonymous SNV S853S 0.001 0.005 0.007 1 1 2 0.003 2 0 1 0 0 Benign 22.4 136405 chr13 39542553 39542553 C T rs755648849 STOML3 Nonsynonymous SNV R212Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 136406 chr2 73268750 73268750 C T rs541090083 SFXN5 Nonsynonymous SNV A34T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.694 136407 chr14 23511601 23511601 G A rs200271665 PSMB11 Nonsynonymous SNV R56H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 136408 chr3 48465125 48465125 G A rs542965215 PLXNB1 Nonsynonymous SNV S299L 0 0.005 0 0 0 2 0 0 0 1 0 0 21.6 136409 chr14 23521787 23521787 G A rs199718070 CDH24 Nonsynonymous SNV R420C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.2 136410 chr2 74907193 74907193 G A SEMA4F Nonsynonymous SNV E569K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 136411 chr13 32911614 32911614 G C rs276174832 BRCA2 Nonsynonymous SNV S1041T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.389 136412 chr3 49701959 49701959 A G rs41290710 BSN Synonymous SNV A3904A 0.002 0.008 0 0 2 3 0 0 0 1 0 0 Benign 10.61 136413 chr3 49758721 49758721 A G RNF123 Nonsynonymous SNV T1310A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 136414 chr19 38713327 38713327 G C rs181902881 DPF1 Synonymous SNV R44R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.45 136415 chr3 50389477 50389477 T C rs75420946 CYB561D2 Synonymous SNV A55A 0.002 0.005 0 0 2 2 0 0 0 1 0 0 15.29 136416 chr14 65262187 65262187 G A rs150968094 SPTB Synonymous SNV D504D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 6.857 136417 chr14 24799383 24799383 C T rs145239286 ADCY4 Nonsynonymous SNV R350Q 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 24.2 136418 chr2 220435489 220435489 C T OBSL1 Nonsynonymous SNV E156K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 136419 chr3 52474048 52474048 C G rs139202784 SEMA3G Nonsynonymous SNV V404L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.8 136420 chr14 70263857 70263857 C T rs777901292 SLC10A1 Nonsynonymous SNV A6T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 3.83 136421 chr3 52537450 52537450 A C rs150673821 STAB1 Nonsynonymous SNV N262T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.07 136422 chr3 52546451 52546451 G A rs557278439 STAB1 Nonsynonymous SNV R993Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.362 136423 chr3 52847473 52847473 C T rs78780447 ITIH4 Synonymous SNV P889P 0.008 0.005 0.024 2 9 2 0.005 7 0 0 0 0 10.55 136424 chr3 56683066 56683066 C T rs147283164 TASOR Nonsynonymous SNV G67E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 136425 chr19 42879992 42879992 C T MEGF8 Nonsynonymous SNV P2468S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.209 136426 chr13 60545157 60545157 A T DIAPH3 Synonymous SNV P333P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.709 136427 chr19 438825 438825 C T rs754073371 SHC2 Nonsynonymous SNV A205T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 136428 chr14 57857884 57857884 C T rs773099325 NAA30 Nonsynonymous SNV P70L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 136429 chr13 99087849 99087849 G A rs200427694 FARP1 Synonymous SNV T721T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.88 136430 chr13 76301211 76301211 C G LMO7 Nonsynonymous SNV L63V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.3 136431 chr3 58574957 58574957 C T rs192634091 FAM107A Nonsynonymous SNV E22K 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 22.3 136432 chr3 63996607 63996607 G A rs34590097 PSMD6 Synonymous SNV A302A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 15.29 136433 chr3 67411131 67411131 A T rs192811331 SUCLG2 Nonsynonymous SNV N415K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.183 136434 chr2 234750808 234750808 C T HJURP Synonymous SNV A121A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.206 136435 chr14 55509919 55509919 G A rs146421724 SOCS4 Nonsynonymous SNV G54S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.002 136436 chr3 71096114 71096114 G C rs146606219 FOXP1 Nonsynonymous SNV P115A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 23.6 136437 chr14 58955423 58955423 G A KIAA0586 Nonsynonymous SNV M1064I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.744 136438 chr14 105177427 105177427 C T rs59751492 INF2 Synonymous SNV T774T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 11.97 136439 chr14 104208186 104208186 G A PPP1R13B Nonsynonymous SNV T588I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.3 136440 chr14 105421311 105421311 G T rs749818567 AHNAK2 Nonsynonymous SNV Q112K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 136441 chr14 64408616 64408616 G T rs778336391 SYNE2 Nonsynonymous SNV G84V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 136442 chr14 105353771 105353771 C T rs371581289 CEP170B Synonymous SNV H995H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.52 136443 chr3 108572533 108572533 C A rs57972201 TRAT1 Nonsynonymous SNV P87T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.9 136444 chr14 73013875 73013875 G T RGS6 Synonymous SNV L528L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.149 136445 chr14 20898030 20898030 G C rs192048256 KLHL33 Nonsynonymous SNV L269V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.002 136446 chr19 47422487 47422487 C T rs189377450 ARHGAP35 Synonymous SNV Y185Y 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 0.807 136447 chr3 8574462 8574462 T C rs147366694 LMCD1 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 136448 chr14 70237960 70237960 C T rs147893895 SRSF5 Nonsynonymous SNV R201C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 136449 chr14 71575562 71575562 C T rs369821499 PCNX1 Synonymous SNV S2070S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 136450 chr19 48624555 48624555 C T rs146309259 LIG1 Nonsynonymous SNV V685M 0.008 0.005 0.007 6 9 2 0.015 2 0 0 0 1 Benign 21.9 136451 chr5 137753243 137753243 A G KDM3B Nonsynonymous SNV I1127V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 136452 chr14 81744076 81744076 C T rs45541932 STON2 Nonsynonymous SNV V527M 0.01 0.005 0.007 2 12 2 0.005 2 0 0 0 0 23.5 136453 chr14 23371485 23371485 C A rs746926514 RBM23 Nonsynonymous SNV G312V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.451 136454 chr14 77580068 77580068 A G rs759593 CIPC Nonsynonymous SNV T203A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 4.93 136455 chr19 49474215 49474215 C T rs561646250 GYS1 Nonsynonymous SNV E475K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 136456 chr3 14188799 14188799 G A rs370126012 XPC Synonymous SNV Y672Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.2 136457 chr14 23857530 23857530 C T rs150815925 MYH6 Nonsynonymous SNV R1398Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 136458 chr14 24731528 24731528 G A rs747931513 TGM1 Nonsynonymous SNV R11C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 136459 chr15 40477837 40477837 C T BUB1B Nonsynonymous SNV P351L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 23.4 136460 chr3 19961427 19961427 T G EFHB Nonsynonymous SNV R298S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 136461 chr14 24600892 24600892 C T rs150931777 FITM1 Synonymous SNV S40S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.5 136462 chr14 88658695 88658695 G A rs199739180 KCNK10 Synonymous SNV A242A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.22 136463 chr19 50383541 50383541 C T rs554395662 TBC1D17 Synonymous SNV S34S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 136464 chr14 30105561 30105561 G A PRKD1 Synonymous SNV C375C 0 0.005 0 0 0 2 0 0 0 0 0 0 8.6 136465 chr14 23244749 23244749 C T rs146720775 SLC7A7 Synonymous SNV R333R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.92 136466 chr14 92471159 92471159 A G TRIP11 Nonsynonymous SNV V1053A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 136467 chr3 37369113 37369113 G A GOLGA4 Synonymous SNV L1912L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.756 136468 chr15 41687179 41687179 G A rs748877002 NDUFAF1 Nonsynonymous SNV R213C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 136469 chr14 31774203 31774203 G C rs188148087 HEATR5A Nonsynonymous SNV T1716R 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 4.262 136470 chr14 38273989 38273989 T C rs779589409 TTC6 Synonymous SNV L109L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.777 136471 chr5 140797564 140797564 G A rs372648693 PCDHGB7 Synonymous SNV V46V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.705 136472 chr5 140797590 140797590 G A rs375588252 PCDHGB7 Nonsynonymous SNV G55E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.9 136473 chr15 42139931 42139931 C A rs139098994 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV T740N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.2 136474 chr3 39178505 39178505 G A rs200706184 TTC21A Nonsynonymous SNV E1030K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 136475 chr14 94770808 94770808 C T rs28929488 SERPINA6 Nonsynonymous SNV D389N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 23.8 136476 chr3 39431077 39431077 G A rs144319567 SLC25A38 Nonsynonymous SNV R54H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 136477 chr15 42363998 42363998 G A rs111407404 PLA2G4D Nonsynonymous SNV P516L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.8 136478 chr14 94849236 94849236 C T SERPINA1 Synonymous SNV E113E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.582 136479 chr2 179428370 179428370 C T rs201158906 TTN Nonsynonymous SNV G18432R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 136480 chr14 50088085 50088085 G T rs140584714 MGAT2 Nonsynonymous SNV K33N 0.002 0.013 0.003 1 2 5 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 136481 chr3 42906647 42906647 G C rs147684121 ACKR2 Nonsynonymous SNV G218A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 136482 chr3 43122747 43122747 G A POMGNT2 Synonymous SNV I59I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.059 136483 chr15 45050866 45050866 G A rs148227833 TRIM69 Synonymous SNV K5K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.52 136484 chr3 130427284 130427284 A T PIK3R4 Nonsynonymous SNV M795K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 136485 chr15 101791527 101791527 G A rs921119348 CHSY1 Synonymous SNV P45P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 11.85 136486 chr14 58332306 58332306 A C rs58495290 SLC35F4 Nonsynonymous SNV W23G 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 1.873 136487 chr3 134880926 134880926 C A rs371083718 EPHB1 Synonymous SNV R497R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 136488 chr15 51792249 51792251 CTT - rs747918100 DMXL2 E1057del 0.002 0 0 0 2 0 0 0 0 0 0 0 136489 chr14 60212701 60212701 C T rs35645652 RTN1 Nonsynonymous SNV G247E 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Benign 19.15 136490 chr15 31218035 31218035 A G rs145610507 FAN1 Nonsynonymous SNV K794R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 136491 chr3 142261533 142261533 T C rs149008479 ATR Nonsynonymous SNV S1078G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 21.2 136492 chr15 56387606 56387606 C G rs3803460 RFX7 Nonsynonymous SNV V677L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 12.2 136493 chr15 40655980 40655980 C T rs146107339 DISP2 Nonsynonymous SNV H92Y 0.002 0 0 0 2 0 0 0 0 0 0 0 17.12 136494 chr15 34394032 34394032 G A rs745799317 EMC7 Synonymous SNV A3A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.07 136495 chr19 55221339 55221339 G A rs145452956 LILRP2 0 0 0.02 0 0 0 0 6 0 0 0 0 2.72 136496 chr15 57929969 57929969 A G rs117361082 GCOM1, MYZAP Nonsynonymous SNV E337G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.5 136497 chr15 59406968 59406968 C T rs144432316 CCNB2 Nonsynonymous SNV R164C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.3 136498 chr15 41247948 41247948 C T rs75888775 CHAC1 Synonymous SNV T215T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.42 136499 chr15 41605529 41605529 A G rs143003728 OIP5 Nonsynonymous SNV I138T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 136500 chr15 41148177 41148177 G A rs147386305 SPINT1 Nonsynonymous SNV R402H 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 29 136501 chr15 63948460 63948460 C A rs960047252 HERC1 Nonsynonymous SNV A3233S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 136502 chr15 42005687 42005687 A G rs998632665 MGA Synonymous SNV L1141L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.993 136503 chr15 41797618 41797618 C G rs749509925 LTK Nonsynonymous SNV R473T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.4 136504 chr3 164700041 164700041 G C rs9917722 SI Nonsynonymous SNV T1802S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 136505 chr3 164712107 164712107 A G rs78428100 SI Synonymous SNV F1593F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.125 136506 chr3 164785139 164785139 G A rs769677927 SI Synonymous SNV N208N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.449 136507 chr3 167339312 167339312 C A rs78839458 WDR49 Nonsynonymous SNV W242C 0.003 0.003 0.007 1 3 1 0.003 2 0 0 1 0 21.2 136508 chr3 56667640 56667640 C T rs139788090 TASOR Nonsynonymous SNV R623Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 136509 chr15 65489780 65489780 C T rs760366605 CILP Synonymous SNV P948P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.982 136510 chr5 173416428 173416428 G A rs539068478 C5orf47 Synonymous SNV P54P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.03 136511 chr15 42981101 42981101 C G rs202017657 STARD9 Nonsynonymous SNV P2442R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 136512 chr15 65688365 65688365 G A IGDCC4 Synonymous SNV N378N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 136513 chr15 43620904 43620904 T C rs761554114 LCMT2 Nonsynonymous SNV N595S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.765 136514 chr14 67671413 67671413 C T rs200384336 FAM71D Synonymous SNV L173L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.43 136515 chr15 69737338 69737338 G A rs557709700 KIF23 Synonymous SNV Q759Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.193 136516 chr2 211302504 211302504 G A LANCL1 Synonymous SNV Y261Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.645 136517 chr3 85935413 85935413 C T rs146378586 CADM2 Synonymous SNV C146C 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 12.62 136518 chr3 184039373 184039373 C A rs200405556 EIF4G1 Nonsynonymous SNV P138Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 136519 chr3 184090714 184090714 C T rs748880497 THPO Stop gain W211X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.6 136520 chr14 73732105 73732105 G C rs146264952 PAPLN Synonymous SNV R1051R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.854 136521 chr3 184299137 184299137 G A rs372198999 EPHB3 Synonymous SNV K943K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.574 136522 chr19 58290569 58290569 G A rs202086042 ZNF586 Nonsynonymous SNV V163I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 136523 chr19 58490272 58490272 T C rs143827609 ZNF606 Synonymous SNV G502G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 136524 chr3 185165676 185165676 C G rs200384064 MAP3K13 Synonymous SNV V110V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.665 136525 chr3 101384382 101384382 G T rs33957144 ZBTB11 Nonsynonymous SNV T350N 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.003 136526 chr14 91367054 91367054 G A rs55985734 RPS6KA5 Synonymous SNV I163I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.94 136527 chr3 101578174 101578174 C T rs138248060 NFKBIZ Synonymous SNV L706L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.67 136528 chr14 74969562 74969562 T C rs140493259 LTBP2 Nonsynonymous SNV Y1655C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 27 136529 chr2 219506781 219506781 G T rs199587417 ZNF142 Synonymous SNV P1486P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 136530 chr14 74989611 74989611 T C rs140719298 LTBP2 Synonymous SNV R847R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.944 136531 chr3 186364046 186364046 G A rs6785067 FETUB Nonsynonymous SNV G137S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 26.3 136532 chr5 180486328 180486328 C T rs746697373 BTNL9 Synonymous SNV G358G 0.003 0.013 0 0 4 5 0 0 0 0 0 0 10.57 136533 chr19 58944886 58944886 A G rs141595419 ZNF132 Nonsynonymous SNV L642P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.8 136534 chr3 186953913 186953913 C T rs3821805 MASP1 Synonymous SNV P582P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 6.439 136535 chr6 348176 348176 G T DUSP22 Nonsynonymous SNV D113Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 136536 chr19 6218030 6218030 T C MLLT1 Nonsynonymous SNV N378S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.528 136537 chr15 58904181 58904181 T C ADAM10 Synonymous SNV Q476Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.642 136538 chr14 77709387 77709387 C G rs372442995 TMEM63C Nonsynonymous SNV I443M 0.003 0 0 3 4 0 0.008 0 0 0 0 0 25.6 136539 chr3 112357368 112357368 C T rs138501198 CCDC80 Nonsynonymous SNV R462H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 136540 chr14 94100911 94100911 A G rs749153640 UNC79 Nonsynonymous SNV M1744V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.84 136541 chr15 63014680 63014680 G A rs148420994 TLN2 Synonymous SNV S1040S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.89 136542 chr15 63131139 63131139 G A rs150270416 TLN2 Nonsynonymous SNV D2487N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.3 136543 chr3 194118229 194118229 G A rs562312596 GP5 Synonymous SNV L261L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.361 136544 chr19 746449 746449 A C PALM Nonsynonymous SNV T223P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.775 136545 chr14 94933609 94933609 C T rs61761875 SERPINA9 Nonsynonymous SNV A167T 0.003 0.008 0.007 1 4 3 0.003 2 0 1 0 0 11.76 136546 chr15 64448304 64448304 C T rs200864554 PPIB Nonsynonymous SNV R190Q 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Uncertain significance 23 136547 chr15 64710874 64710874 G C rs113596176 TRIP4 Nonsynonymous SNV W205C 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 34 136548 chr19 7708058 7708058 C T rs117761837 STXBP2 Nonsynonymous SNV T342M 0.014 0.018 0.024 4 17 7 0.01 7 0 0 0 0 Benign/Likely benign 26.3 136549 chr3 195594780 195594791 CCCGCGGAGGCA - TNK2 V810_R813del 0 0.003 0 0 0 1 0 0 0 0 0 0 136550 chr19 7977079 7977079 T G MAP2K7 Synonymous SNV L382L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 136551 chr19 8006070 8006070 T C rs149700042 TIMM44 Nonsynonymous SNV S20G 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.004 136552 chr15 65622077 65622077 C T rs140847375 IGDCC3 Nonsynonymous SNV G662S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.3 136553 chr15 65623939 65623939 C T rs145612224 IGDCC3 Nonsynonymous SNV E403K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 136554 chr6 16327986 16327986 T A rs112175378 ATXN1 Nonsynonymous SNV S186C 0.003 0 0.007 0 4 0 0 2 0 0 0 0 10.81 136555 chr15 65916926 65916926 C T rs781205450 SLC24A1 Nonsynonymous SNV P170S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.444 136556 chr15 66612917 66612917 G C rs200344612 DIS3L Nonsynonymous SNV R265S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 136557 chr19 8326870 8326870 G A rs556478251 CERS4 Synonymous SNV A354A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.433 136558 chr15 86198996 86198996 G A rs148772528 AKAP13 Nonsynonymous SNV D215N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 136559 chr15 23889857 23889857 C T rs746118539 MAGEL2 Synonymous SNV K1011K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.967 136560 chr15 70959265 70959265 T G rs201992560 UACA Nonsynonymous SNV K1240T 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 26 136561 chr3 122632427 122632427 C G SEMA5B Nonsynonymous SNV R687P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 136562 chr15 72146758 72146758 C T rs773600735 MYO9A Synonymous SNV S2102S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.4 136563 chr14 95030368 95030368 C T rs139198134 SERPINA4 Synonymous SNV N220N 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 10.95 136564 chr15 74573014 74573014 - C CCDC33 Frameshift insertion G299Afs*52 0.001 0.003 0 0 1 1 0 0 0 0 0 0 136565 chr14 96770893 96770893 T C rs141740422 ATG2B Nonsynonymous SNV N1594S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 136566 chr15 74573015 74573015 G T CCDC33 Nonsynonymous SNV G299V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 136567 chr15 34536264 34536264 G A SLC12A6 Synonymous SNV L636L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.49 136568 chr15 40018870 40018870 C T rs145632918 FSIP1 Nonsynonymous SNV D324N 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 5.989 136569 chr15 28202804 28202804 G A rs374415755 OCA2 Nonsynonymous SNV R548C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.5 136570 chr15 81624947 81624947 G A rs759884779 TMC3 Nonsynonymous SNV T1039M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 136571 chr15 40866451 40866451 A G rs745637576 RPUSD2 Synonymous SNV Q482Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.117 136572 chr15 80191376 80191376 G A rs765481944 ST20 0.002 0.008 0 0 2 3 0 0 0 0 0 0 16.33 136573 chr15 83316755 83316755 C A rs1046624246 CPEB1-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.83 136574 chr19 9270798 9270798 C T rs145438899 ZNF317 Synonymous SNV A127A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.01 136575 chr19 9362120 9362120 G C rs201058180 OR7E24 Nonsynonymous SNV S134T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.001 136576 chr15 94883465 94883465 G T MCTP2 Nonsynonymous SNV G273V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 136577 chr15 41689043 41689043 G C rs200472799 NDUFAF1 Nonsynonymous SNV T72S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.634 136578 chr19 9742987 9742987 G A ZNF561-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.953 136579 chr3 130442259 130442259 A G rs55657005 PIK3R4 Synonymous SNV I660I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.88 136580 chr15 35084666 35084666 G T ACTC1 Nonsynonymous SNV L187I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 136581 chr15 40280247 40280247 G A rs375292990 EIF2AK4 Nonsynonymous SNV V823I 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 8.426 136582 chr15 44615216 44615216 G A CASC4 Synonymous SNV K127K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.79 136583 chr4 8022016 8022016 G A rs200296927 ABLIM2 Nonsynonymous SNV R395W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 136584 chr1 107599371 107599371 G C rs575593065 PRMT6 Nonsynonymous SNV G12R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 136585 chr15 90168191 90168191 C T rs148263440 TICRR Synonymous SNV S1549S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 8.912 136586 chr4 15518271 15518271 C T rs371086728 CC2D2A Synonymous SNV D347D 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.09 136587 chr15 53889397 53889397 G A rs755494647 WDR72 Synonymous SNV V1009V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.872 136588 chr1 112029215 112029215 G A rs77848158 TMIGD3 Nonsynonymous SNV R120C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 136589 chr15 42129055 42129055 G A rs151336937 JMJD7 Nonsynonymous SNV R260H 0.002 0.01 0 4 2 4 0.01 0 0 0 0 0 7.115 136590 chr16 1720768 1720768 G C rs201262650 CRAMP1 Synonymous SNV S1201S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 136591 chr4 25125783 25125783 T C rs142133435 SEPSECS Nonsynonymous SNV T426A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 0.149 136592 chr16 1748840 1748840 G C JPT2 Nonsynonymous SNV E138D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.563 136593 chr15 56388278 56388278 C A RFX7 Nonsynonymous SNV V453L 0 0.005 0 0 0 2 0 0 0 0 0 0 8.929 136594 chr15 42695075 42695075 G A CAPN3 Nonsynonymous SNV M28I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 136595 chr15 51773415 51773415 C T DMXL2 Nonsynonymous SNV S1327N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 136596 chr15 62207911 62207911 A G rs72747885 VPS13C Nonsynonymous SNV I2746T 0.006 0.016 0.003 2 7 6 0.005 1 0 0 0 0 Benign 2.797 136597 chr15 62212781 62212781 T C rs17238189 VPS13C Synonymous SNV Q2333Q 0.014 0.026 0.014 4 16 10 0.01 4 0 0 0 0 0.971 136598 chr3 167750348 167750348 C T rs150862007 GOLIM4 Nonsynonymous SNV R351Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 136599 chr16 2126110 2126110 C T rs777282955 TSC2 Nonsynonymous SNV A694V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 34 136600 chr1 11838827 11838827 C T C1orf167 Nonsynonymous SNV A817V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 136601 chr16 21278931 21278931 A G CRYM Nonsynonymous SNV L206P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 136602 chr16 21696679 21696679 C T rs147717988 OTOA Synonymous SNV G53G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 12.24 136603 chr16 22000096 22000096 A G rs149154019 PDZD9 Synonymous SNV S16S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.189 136604 chr16 11051651 11051651 C T rs199548274 CLEC16A Synonymous SNV H31H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 136605 chr16 11785851 11785851 G C rs753162675 TXNDC11 Nonsynonymous SNV P185A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.665 136606 chr15 56388786 56388786 C T rs764737402 RFX7 Synonymous SNV P283P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.9 136607 chr15 65625668 65625668 G A rs147088441 IGDCC3 Synonymous SNV G303G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.467 136608 chr16 1252185 1252185 G A rs200804807 CACNA1H Nonsynonymous SNV D579N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.9 136609 chr16 1273478 1273478 C T rs367842001 TPSG1 Nonsynonymous SNV G64S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 136610 chr16 25266658 25266658 A G rs116148718 ZKSCAN2 Nonsynonymous SNV V152A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.581 136611 chr16 1254215 1254215 C T rs376616017 CACNA1H Synonymous SNV H736H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.142 136612 chr4 48112579 48112579 T C TXK Nonsynonymous SNV K141R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.88 136613 chr16 27221718 27221718 C T rs201598678 KDM8 Nonsynonymous SNV R130C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 136614 chr15 50168699 50168699 C T ATP8B4 Nonsynonymous SNV V935M 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 136615 chr16 27751895 27751895 C T rs149945532 KIAA0556 Synonymous SNV P759P 0.005 0.016 0.003 2 6 6 0.005 1 0 0 0 0 Benign 10.02 136616 chr1 14108060 14108062 AAG - rs147285105 PRDM2 E1060del 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 136617 chr1 14108399 14108399 C T rs768005176 PRDM2 Nonsynonymous SNV P1169L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 136618 chr6 76618311 76618311 G A rs777983980 MYO6 Nonsynonymous SNV E1104K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 136619 chr15 54307262 54307262 C T rs750151644 UNC13C Nonsynonymous SNV S721F 0 0 0 2 0 0 0.005 0 0 0 0 0 26.2 136620 chr15 66207921 66207921 G T rs1001016400 MEGF11 Nonsynonymous SNV T787N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 136621 chr16 17252736 17252736 G A XYLT1 Synonymous SNV S440S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.86 136622 chr6 86223813 86223813 C T rs143873124 SNX14 Synonymous SNV L791L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.03 136623 chr6 87968294 87968294 A C rs61737894 ZNF292 Synonymous SNV T1649T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.002 136624 chr6 88049885 88049885 T C rs35171967 SMIM8 Nonsynonymous SNV Y63H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.2 136625 chr6 88074904 88074904 G A rs41273289 C6orf163 Synonymous SNV E260E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 4.151 136626 chr16 29917186 29917186 G A rs151078457 ASPHD1 Nonsynonymous SNV A381T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28 136627 chr16 30764817 30764817 G T rs146181866 PHKG2 Nonsynonymous SNV M165I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.45 136628 chr16 19490786 19490786 C T rs201640346 TMC5 Nonsynonymous SNV R489W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 136629 chr6 90660854 90660854 G C rs772342406 BACH2 Nonsynonymous SNV A324G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.005 136630 chr4 73181684 73181684 C T rs750026635 ADAMTS3 Nonsynonymous SNV R497Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 136631 chr1 152185682 152185682 T C rs777789613 HRNR Nonsynonymous SNV D2808G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 136632 chr1 152383260 152383260 G A CRNN Stop gain Q100X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 136633 chr3 193332666 193332666 T A rs777179811 OPA1 Nonsynonymous SNV S63T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 136634 chr1 152882771 152882830 AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCC - IVL K174_L193del 0.008 0.003 0.01 2 9 1 0.005 3 0 0 0 0 136635 chr1 153916727 153916727 G A rs775691758 DENND4B Nonsynonymous SNV R53W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 136636 chr1 153946473 153946473 G A rs146920889 CREB3L4 Nonsynonymous SNV E374K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.17 136637 chr3 42917174 42917174 A G CYP8B1 Synonymous SNV H45H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.09 136638 chr15 83499573 83499573 G C WHAMM Nonsynonymous SNV V622L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.97 136639 chr16 22328498 22328498 C A rs772010876 POLR3E Nonsynonymous SNV A243D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 136640 chr3 44868956 44868956 T C rs139375114 KIF15 Nonsynonymous SNV I931T 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 24.1 136641 chr15 85384156 85384156 C T rs758425827 ALPK3 Nonsynonymous SNV P549L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.5 136642 chr16 23444928 23444928 G A rs760710960 COG7 Nonsynonymous SNV L250F 0.001 0 0 0 1 0 0 0 0 0 0 0 27 136643 chr16 27506116 27506116 T C GTF3C1 Nonsynonymous SNV I916V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.51 136644 chr16 23569403 23569403 G A rs750365384 UBFD1 Nonsynonymous SNV S53N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 136645 chr15 70961722 70961722 G A rs142769157 UACA Nonsynonymous SNV T421M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 136646 chr1 156213706 156213706 C G PAQR6 Synonymous SNV G194G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.313 136647 chr4 436534 436534 T C rs200938371 ZNF721 Synonymous SNV V574V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 136648 chr1 156351213 156351213 C T rs200320178 RHBG Nonsynonymous SNV T250M 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 28.7 136649 chr16 2498978 2498978 G A rs146438723 CCNF Nonsynonymous SNV R98Q 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 28.5 136650 chr16 27367173 27367173 G A rs770513644 IL4R Nonsynonymous SNV V239I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 136651 chr16 4606556 4606556 C T C16orf96 Synonymous SNV N22N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.92 136652 chr4 1087328 1087329 AC - rs796227114 RNF212 R240Sfs*7 0.001 0 0.003 0 1 0 0 1 0 0 0 0 136653 chr4 1087327 1087329 GAC GCTGCCCAGGCTGGAGCCAGCCAC RNF212 S241delinsWLAPAWAA 0.001 0 0 0 1 0 0 0 0 0 0 0 136654 chr4 1087331 1087331 - GCCCAGGCTGGAGCCAGCCATCA rs757048057 RNF212 Stop gain R240* 0.001 0 0.007 0 1 0 0 2 0 0 0 0 136655 chr15 89010407 89010407 C T rs147896985 MRPL46 Nonsynonymous SNV E68K 0.008 0.023 0.007 4 9 9 0.01 2 0 0 0 0 24.1 136656 chr15 89074772 89074772 A T rs199964884 DET1 Synonymous SNV V55V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.13 136657 chr6 119345408 119345408 G A rs6907441 FAM184A Synonymous SNV L124L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.291 136658 chr16 28944257 28944257 G A rs142342927 CD19 Synonymous SNV S127S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Likely benign 13.24 136659 chr4 1347154 1347154 A T rs756047051 UVSSA Nonsynonymous SNV H296L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 136660 chr4 1657027 1657027 G A rs367984289 FAM53A Nonsynonymous SNV P187L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 136661 chr3 48610667 48610667 G C rs151111203 COL7A1 Synonymous SNV G2218G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 11.6 136662 chr4 2209742 2209742 T G rs747058815 POLN Nonsynonymous SNV D229A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 136663 chr1 156954216 156954216 G C rs199615456 ARHGEF11 Synonymous SNV R46R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.218 136664 chr1 15772212 15772212 C T rs121909293 CTRC Nonsynonymous SNV R254W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity, risk factor 35 136665 chr3 49765557 49765557 G A rs34675186 IP6K1 Synonymous SNV G92G 0.002 0.013 0.003 2 2 5 0.005 1 0 0 0 0 15.62 136666 chr16 30616488 30616488 G A rs9937653 ZNF689 Synonymous SNV S200S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.041 136667 chr16 53705440 53705440 T C rs144023021 RPGRIP1L Nonsynonymous SNV Y362C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.11 136668 chr4 103682024 103682024 C A MANBA Nonsynonymous SNV A10S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 136669 chr4 104041483 104041483 C T rs146344166 CENPE Nonsynonymous SNV R2263Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.956 136670 chr16 31434770 31434770 C T rs150163548 ITGAD Nonsynonymous SNV A987V 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 9.281 136671 chr4 105412889 105412889 A C CXXC4 Nonsynonymous SNV L24W 0 0.003 0 0 0 1 0 0 0 0 0 0 15.6 136672 chr4 110605749 110605749 A G rs1053680 MCUB Nonsynonymous SNV I255V 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 9.855 136673 chr3 52238861 52238861 C A rs772639657 ALAS1 Nonsynonymous SNV Q244K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.9 136674 chr4 110615831 110615831 G A rs2227927 CASP6 Synonymous SNV A22A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.67 136675 chr16 56920313 56920313 C T rs747249619 SLC12A3 Nonsynonymous SNV R655C 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 35 136676 chr16 31332655 31332655 C T rs8056264 ITGAM Synonymous SNV L601L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.378 136677 chr16 56936367 56936367 C T rs56125220 SLC12A3 Nonsynonymous SNV R944W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 136678 chr16 57007244 57007244 G T rs144460063 CETP Nonsynonymous SNV G251V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.8 136679 chr1 159904358 159904358 C T rs137951399 IGSF9 Nonsynonymous SNV R273H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 136680 chr3 52522439 52522439 G C rs748157895 NISCH Synonymous SNV G977G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.568 136681 chr16 57600533 57600533 T C ADGRG5 Nonsynonymous SNV V190A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 136682 chr1 161070520 161070520 C T PFDN2 Nonsynonymous SNV E140K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 136683 chr16 4410357 4410357 G C rs114279206 CORO7, CORO7-PAM16 Nonsynonymous SNV P592R 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 19.46 136684 chr16 4412695 4412695 C T rs36056990 CORO7, CORO7-PAM16 Synonymous SNV T355T 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 19.09 136685 chr15 99796251 99796251 T G LRRC28 Nonsynonymous SNV F30C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 136686 chr16 4432468 4432468 T C rs80302957 VASN Synonymous SNV T530T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 0.298 136687 chr1 16259434 16259434 C T rs138786955 SPEN Synonymous SNV F2233F 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 13.53 136688 chr16 3900421 3900421 C T rs140708841 CREBBP Synonymous SNV P225P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.55 136689 chr4 123160682 123160682 A G rs76067900 KIAA1109 Nonsynonymous SNV E1282G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Benign 23.3 136690 chr16 4606678 4606678 G T rs116515725 C16orf96 Nonsynonymous SNV R63M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.9 136691 chr4 123168361 123168361 A G rs73844502 KIAA1109 Synonymous SNV S1787S 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 8.247 136692 chr4 123176375 123176375 A G rs28520439 KIAA1109 Synonymous SNV L2105L 0.01 0.005 0 3 12 2 0.008 0 0 0 0 0 6.794 136693 chr4 123664245 123664245 G A rs771136797 BBS12 Nonsynonymous SNV V400M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 14.11 136694 chr3 56628030 56628030 C T rs751148390 CCDC66 Stop gain R427X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 136695 chr15 89195421 89195421 C T rs200255252 ISG20 Synonymous SNV S92S 0.007 0 0 2 8 0 0.005 0 0 0 0 0 13.79 136696 chr16 4748011 4748011 C T rs9936675 ANKS3 Nonsynonymous SNV A420T 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 1.153 136697 chr16 427672 427672 C G rs548358622 PGAP6 Nonsynonymous SNV V100L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 136698 chr16 476487 476487 T C rs1049481957 RAB11FIP3 Nonsynonymous SNV F161L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.01 136699 chr1 165872456 165872456 G A rs143431109 UCK2 Synonymous SNV E179E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.95 136700 chr16 10788543 10788543 G A rs762793466 TEKT5 Nonsynonymous SNV T63I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.188 136701 chr16 55905671 55905671 G A rs760284149 CES5A Nonsynonymous SNV L95F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.003 136702 chr16 50335074 50335074 C A rs78534766 ADCY7 Nonsynonymous SNV D439E 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 25.9 136703 chr16 709112 709112 C A rs199834574 WDR90 Nonsynonymous SNV P1013Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 136704 chr3 74334458 74334458 G A rs141921900 CNTN3 Nonsynonymous SNV T901M 0.002 0.013 0.003 2 2 5 0.005 1 0 0 0 0 Benign 18.94 136705 chr4 15627568 15627568 C T rs144046392 FBXL5 Nonsynonymous SNV R385Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.3 136706 chr16 1504452 1504452 C T rs373632347 CLCN7 Synonymous SNV T347T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.11 136707 chr16 129531 129531 C G rs2259275 MPG Synonymous SNV S44S 0.005 0.003 0.017 5 6 1 0.013 5 0 0 0 0 9.315 136708 chr1 17681143 17681143 C T rs150896296 PADI4 Nonsynonymous SNV P424L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 29 136709 chr16 72821618 72821618 A G rs112443847 ZFHX3 Synonymous SNV G2605G 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.247 136710 chr4 154624698 154624698 G C rs5743698 TLR2 Synonymous SNV L213L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.08 136711 chr3 108363327 108363327 A G rs142342971 DZIP3 Synonymous SNV G486G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.607 136712 chr16 57790805 57790805 C T rs142661420 KATNB1 Nonsynonymous SNV R639C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 136713 chr4 158224865 158224865 G A rs368985106 GRIA2 Nonsynonymous SNV D131N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 136714 chr16 2027521 2027521 G A rs149277729 TBL3 Synonymous SNV S583S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.335 136715 chr3 111888137 111888137 A T rs144423530 SLC9C1 Nonsynonymous SNV F938L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 23.5 136716 chr4 40351425 40351425 C G CHRNA9 Nonsynonymous SNV L298V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 136717 chr1 182874667 182874667 T G rs144570390 SHCBP1L Nonsynonymous SNV N434H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 136718 chr4 164246580 164246580 C A NPY1R Nonsynonymous SNV D344Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 136719 chr1 182992925 182992925 C T LAMC1 Nonsynonymous SNV A25V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 136720 chr1 183192386 183192386 C T rs144572936 LAMC2 Synonymous SNV L294L 0.008 0.013 0.02 5 9 5 0.013 6 0 0 0 0 Conflicting interpretations of pathogenicity 14.66 136721 chr16 81971422 81971422 C T rs200813182 PLCG2 Synonymous SNV L1038L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 17.18 136722 chr16 66997147 66997147 G A rs149175900 CES3 Nonsynonymous SNV V50M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 136723 chr16 83711944 83711944 C T rs147140848 CDH13 Synonymous SNV N433N 0.01 0.003 0.007 1 12 1 0.003 2 0 0 0 0 Benign 17.06 136724 chr16 83932890 83932890 G A MLYCD Synonymous SNV A47A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 136725 chr3 113850123 113850123 C T rs144611669 DRD3 Nonsynonymous SNV R283Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 136726 chr1 186863256 186863256 C T PLA2G4A Synonymous SNV V97V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 136727 chr16 69364342 69364342 C A PDF Synonymous SNV L44L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 136728 chr16 70298949 70298949 G A rs117598688 AARS1 Synonymous SNV Y468Y 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 Benign 9.207 136729 chr16 705587 705587 G A rs148528682 WDR90 Nonsynonymous SNV R578H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 136730 chr4 185655201 185655201 G A rs200073054 CENPU Nonsynonymous SNV R6W 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 22.2 136731 chr4 62910200 62910200 G A rs572601129 ADGRL3 Synonymous SNV T1154T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.488 136732 chr1 198725202 198725202 C A rs142652490 PTPRC Synonymous SNV L1110L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 11.91 136733 chr16 71768548 71768548 G A AP1G1 Synonymous SNV T777T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 136734 chr16 2810411 2810411 A G rs752114312 SRRM2 Nonsynonymous SNV T315A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.017 136735 chr16 72166837 72166837 C T rs749803936 PMFBP1 Synonymous SNV Q419Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.589 136736 chr16 23568649 23568649 T C rs113722817 EARS2 Nonsynonymous SNV R6G 0.005 0.008 0.003 5 6 3 0.013 1 0 0 0 0 Benign/Likely benign 6.518 136737 chr16 19125790 19125790 G T rs575765575 ITPRIPL2 Nonsynonymous SNV V3L 0.002 0 0 6 2 0 0.015 0 0 0 0 0 23.3 136738 chr16 72991329 72991329 G A rs143561313 ZFHX3 Synonymous SNV L906L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 136739 chr16 83948906 83948906 C T rs35124955 MLYCD Nonsynonymous SNV R432C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 35 136740 chr16 24802874 24802874 C G rs138599102 TNRC6A Nonsynonymous SNV L971V 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 10.87 136741 chr16 24946890 24946890 A C rs769282100 ARHGAP17 Nonsynonymous SNV S521A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.001 136742 chr16 3016367 3016367 C A KREMEN2 Nonsynonymous SNV P135T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 136743 chr1 201924660 201924660 G A rs141892990 TIMM17A Synonymous SNV E2E 0.001 0 0.01 0 1 0 0 3 0 0 0 0 13.46 136744 chr16 84492895 84492895 C G rs749187887 ATP2C2 Nonsynonymous SNV L595V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 136745 chr16 81053823 81053823 C A CENPN Nonsynonymous SNV T138N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 136746 chr5 453623 453623 G A rs202114916 EXOC3 Nonsynonymous SNV R168H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 136747 chr16 88788035 88788035 G C rs753431693 PIEZO1 Nonsynonymous SNV R1772G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 136748 chr16 81066222 81066222 A G CENPN Nonsynonymous SNV S329G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.316 136749 chr1 202300999 202300999 T C UBE2T Synonymous SNV L156L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.229 136750 chr16 30991241 30991243 CAG - rs774035279 SETD1A S1383del 0 0.005 0 0 0 2 0 0 0 0 0 0 136751 chr16 2246422 2246422 C T rs754226679 CASKIN1 Synonymous SNV E4E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.738 136752 chr5 1221333 1221333 G A rs145250153 SLC6A19 Nonsynonymous SNV V536M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 136753 chr4 79432434 79432434 G A FRAS1 Nonsynonymous SNV D3263N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 136754 chr16 31091871 31091871 A G rs149559174 ZNF646 Nonsynonymous SNV N1409S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 136755 chr16 31123565 31123565 G A rs145180240 BCKDK Synonymous SNV R406R 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.596 136756 chr5 2753444 2753444 G C rs150419625 C5orf38 Nonsynonymous SNV A127P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.796 136757 chr4 79780825 79780825 C T rs199612830 BMP2K Nonsynonymous SNV P324L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 136758 chr16 89294211 89294211 C T rs777257545 ZNF778 Synonymous SNV Y477Y 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.87 136759 chr16 3139143 3139143 G C rs1012270016 ZSCAN10 Nonsynonymous SNV N370K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 136760 chr16 31474091 31474091 A G rs141923065 ARMC5 Nonsynonymous SNV Q408R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 17.87 136761 chr16 87764248 87764248 G A rs756000117 KLHDC4 Nonsynonymous SNV S113L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 136762 chr16 89777226 89777226 T A rs544856270 VPS9D1 Synonymous SNV A342A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.158 136763 chr16 30990598 30990598 G C SETD1A Nonsynonymous SNV R1164P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 136764 chr5 10236649 10236649 G A rs199590304 ATPSCKMT Nonsynonymous SNV R129C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 136765 chr16 347930 347930 C T rs141148118 AXIN1 Nonsynonymous SNV A526T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 1.741 136766 chr17 10215275 10215275 A G MYH13 Nonsynonymous SNV V1495A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.26 136767 chr16 3607652 3607652 T C NLRC3 Nonsynonymous SNV K681E 0 0.005 0 0 0 2 0 0 0 0 0 0 17.63 136768 chr16 28884962 28884962 C G rs916179518 SH2B1 Nonsynonymous SNV L698V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 136769 chr5 13794050 13794050 C A rs773280167 DNAH5 Nonsynonymous SNV D2669Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 136770 chr16 3140333 3140333 G A rs757570428 ZSCAN10 Nonsynonymous SNV R231C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.4 136771 chr16 31434738 31434738 C T rs140899350 ITGAD Synonymous SNV N976N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.234 136772 chr17 10451055 10451055 C T rs142539913 MYH2 Synonymous SNV T61T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 12.7 136773 chr16 3063838 3063838 G A CLDN9 Nonsynonymous SNV E159K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 136774 chr16 30964690 30964690 C T rs200285216 ORAI3 Nonsynonymous SNV S138L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 33 136775 chr16 47347664 47347664 G A ITFG1 Synonymous SNV Y178Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.638 136776 chr5 33954512 33954512 G A rs140158799 SLC45A2 Nonsynonymous SNV T329I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 136777 chr16 89211714 89211714 G A rs144681140 ACSF3 Nonsynonymous SNV R204Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 136778 chr4 100518337 100518337 A G rs145724674 MTTP Synonymous SNV K368K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.391 136779 chr5 35659130 35659130 C A rs142277796 SPEF2 Synonymous SNV R330R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 136780 chr16 88505592 88505592 C G rs529322092 ZNF469 Nonsynonymous SNV P3905R 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 Uncertain significance 22.5 136781 chr16 3440029 3440031 CTT - ZSCAN32 K32del 0 0 0 1 0 0 0.003 0 0 0 0 0 136782 chr1 214556684 214556684 G A rs146424456 PTPN14 Synonymous SNV D838D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.971 136783 chr4 100870092 100870092 A C H2AZ1 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 136784 chr16 88753318 88753318 T C SNAI3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.309 136785 chr16 88778753 88778753 G T rs758386207 CTU2 Nonsynonymous SNV A52S 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 0.01 136786 chr16 929666 929666 C T rs753874558 LMF1 Synonymous SNV T158T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.183 136787 chr16 88786653 88786653 T C rs370710857 PIEZO1 Synonymous SNV S1996S 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 Likely benign 0.344 136788 chr16 4796942 4796942 C G C16orf71 Nonsynonymous SNV S399C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.3 136789 chr17 11593434 11593434 G A rs200329184 DNAH9 Nonsynonymous SNV G1432D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.53 136790 chr17 18923731 18923731 C - rs978877420 SLC5A10 Y567Tfs*68 0.003 0 0 0 4 0 0 0 0 0 0 0 136791 chr16 89348201 89348201 G A rs373632845 ANKRD11 Synonymous SNV F1583F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.715 136792 chr16 47545631 47545631 A G rs779261772 PHKB Nonsynonymous SNV N154S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.75 136793 chr4 123664025 123664025 T A rs115635198 BBS12 Synonymous SNV T326T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.979 136794 chr4 123664026 123664026 T A rs116805550 BBS12 Nonsynonymous SNV S327T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.702 136795 chr4 126389860 126389860 C T rs774481338 FAT4 Synonymous SNV A4033A 0.003 0 0 0 3 0 0 0 0 0 0 0 17.73 136796 chr1 226175904 226175904 T C rs41268719 SDE2 Nonsynonymous SNV H276R 0.016 0.018 0.027 3 19 7 0.008 8 0 0 0 0 0.001 136797 chr17 1381999 1381999 C A rs780926824 MYO1C Nonsynonymous SNV A375S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 136798 chr4 129792890 129792890 C T JADE1 Nonsynonymous SNV L656F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 136799 chr16 58314258 58314258 G T rs146825115 PRSS54 Nonsynonymous SNV P254H 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 18.67 136800 chr16 72173259 72173259 C T rs139406797 PMFBP1 Nonsynonymous SNV D283N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22 136801 chr17 2600215 2600215 C T rs143605055 CLUH Synonymous SNV L661L 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 14.54 136802 chr1 228285368 228285368 C T rs143545613 ARF1 Synonymous SNV A112A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.07 136803 chr17 26209693 26209693 C A LYRM9 Nonsynonymous SNV V10F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 136804 chr3 183774753 183774753 C T rs55810331 HTR3C Synonymous SNV S160S 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 Benign 13.89 136805 chr17 26955355 26955355 T C rs117706969 KIAA0100 Nonsynonymous SNV T1365A 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 0.002 136806 chr4 148802994 148802994 C T rs770219638 ARHGAP10 Synonymous SNV D315D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 136807 chr5 74962809 74962809 C T rs534392284 ANKDD1B Stop gain Q462X 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 39 136808 chr16 66434776 66434776 G A rs140269853 CDH5 Nonsynonymous SNV R565H 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 23.4 136809 chr7 73112199 73112199 C T BUD23 Nonsynonymous SNV R277C 0.003 0 0 0 3 0 0 0 0 0 0 0 32 136810 chr16 66793115 66793115 C T rs142204236 TERB1 Nonsynonymous SNV R620H 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23 136811 chr16 67221207 67221207 G A rs201361599 EXOC3L1 Stop gain Q321X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 36 136812 chr17 27944596 27944596 G A rs112317482 CORO6 Synonymous SNV A225A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 136813 chr16 67409314 67409314 C T rs988545000 LRRC36 Synonymous SNV L432L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 136814 chr16 68386291 68386291 C T rs149581712 PRMT7 Synonymous SNV H468H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 14.13 136815 chr17 17698862 17698862 C T rs201568125 RAI1 Nonsynonymous SNV A867V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 136816 chr1 228528933 228528933 C T rs376844452 OBSCN Synonymous SNV Y5945Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.704 136817 chr16 66426071 66426071 C T rs373322055 CDH5 Synonymous SNV S334S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.296 136818 chr1 229594003 229594003 C T rs41307728 NUP133 Nonsynonymous SNV R962H 0.007 0.005 0.007 10 8 2 0.026 2 1 0 0 0 28.8 136819 chr16 67768816 67768816 C T rs753641589 RANBP10 Nonsynonymous SNV V124I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.76 136820 chr17 19215371 19215371 C T EPN2 Nonsynonymous SNV R11C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 136821 chr4 159592901 159592901 G A C4orf46 Nonsynonymous SNV S18F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.187 136822 chr17 1964815 1964815 C G rs376525214 SMG6 Nonsynonymous SNV A322P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 136823 chr16 75146513 75146513 C T rs78008482 LDHD Nonsynonymous SNV E449K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.33 136824 chr16 84212946 84212946 C T rs374960656 TAF1C Synonymous SNV Q405Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.961 136825 chr5 90004682 90004682 T C rs567220999 ADGRV1 Nonsynonymous SNV V2927A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 136826 chr16 75675514 75675514 T C rs117041419 KARS1 Nonsynonymous SNV N57S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 136827 chr5 94814015 94814015 T C rs139074002 TTC37 Synonymous SNV L1448L 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign/Likely benign 9.04 136828 chr5 94857921 94857921 T C rs145518834 TTC37 Synonymous SNV T616T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 9.319 136829 chr7 97937031 97937031 C A BAIAP2L1 Nonsynonymous SNV W378L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 136830 chr17 36708202 36708202 G A rs776036259 SRCIN1 Nonsynonymous SNV L883F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.098 136831 chr16 84514205 84514205 G A rs113834725 MEAK7 Nonsynonymous SNV S396L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 1 32 136832 chr5 96124373 96124373 C T rs78649652 ERAP1 Nonsynonymous SNV G514R 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Likely benign 16.53 136833 chr3 196159395 196159395 G A rs575372683 UBXN7-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.982 136834 chr7 99569370 99569370 G A rs200393898 AZGP1 Synonymous SNV N112N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 136835 chr4 184205426 184205426 A C rs144286514 WWC2 Synonymous SNV A977A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.274 136836 chr16 86575755 86575755 G A rs374156480 MTHFSD Synonymous SNV G169G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.129 136837 chr17 27061172 27061172 C G NEK8 Nonsynonymous SNV D73E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 136838 chr16 87677887 87677887 G A rs149647215 JPH3 Nonsynonymous SNV G136S 0.007 0.016 0 3 8 6 0.008 0 0 0 0 0 22.2 136839 chr5 109181630 109181630 T A MAN2A1 Nonsynonymous SNV M922K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 136840 chr16 88555448 88555448 C T ZFPM1 Nonsynonymous SNV S52L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 3.722 136841 chr5 114607134 114607134 A G rs568043712 CCDC112 Nonsynonymous SNV S370P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.8 136842 chr4 1902762 1902762 A G rs149396950 NSD2 Synonymous SNV K127K 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign 0.116 136843 chr5 115813831 115813831 C T rs557625636 SEMA6A Nonsynonymous SNV E483K 0 0.003 0 0 0 1 0 0 0 0 0 0 35 136844 chr7 100550514 100550514 T C rs78262970 MUC3A Synonymous SNV T365T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 4.969 136845 chr7 100550520 100550520 C T rs77013428 MUC3A Synonymous SNV L367L 0.008 0 0 1 9 0 0.003 0 0 0 0 0 5.816 136846 chr17 36622810 36622810 G C ARHGAP23 Nonsynonymous SNV V296L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 136847 chr17 39535235 39535235 C T rs751651630 KRT34 Nonsynonymous SNV R399Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 136848 chr16 919948 919948 G A rs138205062 LMF1 Nonsynonymous SNV R342W 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Benign 24.9 136849 chr5 10564870 10564870 C T rs117918201 ANKRD33B Synonymous SNV N97N 0.004 0 0 0 5 0 0 0 0 0 0 0 21.2 136850 chr17 3844778 3844778 C G ATP2A3 Nonsynonymous SNV R572S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 136851 chr5 135228198 135228198 T C rs763094801 IL9 Nonsynonymous SNV Y106C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.132 136852 chr1 26369983 26369983 A C SLC30A2 Nonsynonymous SNV Y111D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 136853 chr17 37822174 37822174 C T rs45578741 TCAP Nonsynonymous SNV R106C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 32 136854 chr17 39092465 39092465 C T rs897151182 KRT23 Nonsynonymous SNV E131K 0.001 0 0 0 1 0 0 0 0 0 0 0 24 136855 chr17 3989904 3989904 T C rs146118502 ZZEF1 Synonymous SNV L796L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.17 136856 chr17 13504194 13504194 C A rs60532842 HS3ST3A1 Nonsynonymous SNV A85S 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.1 136857 chr17 40256787 40256787 G A DHX58 Synonymous SNV A520A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.17 136858 chr17 40695971 40695971 G C NAGLU Nonsynonymous SNV W649C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 28.6 136859 chr17 39197441 39197441 C - rs751890300 KRTAP1-1 C70Sfs*43 0.002 0 0 0 2 0 0 0 0 0 0 0 136860 chr17 3923044 3923044 T C rs146682751 ZZEF1 Nonsynonymous SNV N2475S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 136861 chr1 27874627 27874627 C T rs143951781 AHDC1 Nonsynonymous SNV G1334S 0.004 0 0.01 0 5 0 0 3 0 0 0 0 3.571 136862 chr5 38482054 38482054 C T rs201711670 LIFR Synonymous SNV S979S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.63 136863 chr1 29585171 29585171 C T rs771245838 PTPRU Synonymous SNV Y120Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 136864 chr1 29647267 29647267 G A rs760809964 PTPRU Nonsynonymous SNV R1250Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 136865 chr17 1704029 1704029 G A rs769728729 SMYD4 Nonsynonymous SNV A220V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.105 136866 chr17 42853009 42853009 A G rs749274044 ADAM11 Nonsynonymous SNV M284V 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 136867 chr1 32148555 32148555 C A rs202008728 COL16A1 Nonsynonymous SNV A840S 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 16.18 136868 chr17 39593768 39593768 A T KRT38 Nonsynonymous SNV S423T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 136869 chr5 140553091 140553091 C G rs141127632 PCDHB7 Synonymous SNV T225T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.985 136870 chr7 106508112 106508112 G A rs142342118 PIK3CG Nonsynonymous SNV E36K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 136871 chr1 33772417 33772417 G T A3GALT2 Nonsynonymous SNV R325S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 136872 chr17 45229296 45229296 G A rs372057526 CDC27 Nonsynonymous SNV R219C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 9.478 136873 chr17 40125763 40125763 G A rs372778050 CNP Nonsynonymous SNV E343K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 136874 chr17 45455136 45455136 C T EFCAB13 Synonymous SNV N363N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.544 136875 chr5 54645455 54645455 C G rs142958762 MTREX Nonsynonymous SNV S432C 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 28.7 136876 chr17 40651046 40651046 T G rs763897972 ATP6V0A1 Nonsynonymous SNV S562R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 136877 chr17 16456644 16456644 T C rs138183235 ZNF287 Nonsynonymous SNV D223G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.456 136878 chr17 4638634 4638634 T C rs568508459 CXCL16 Synonymous SNV S176S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.079 136879 chr17 16472406 16472406 C T rs79323672 ZNF287 Nonsynonymous SNV R40Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.761 136880 chr17 46629406 46629406 T A HOXB3 Nonsynonymous SNV N144I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 136881 chr17 10297619 10297619 C T rs143448404 MYH8 Nonsynonymous SNV A1705T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 33 136882 chr5 145428665 145428665 C A rs35937996 SH3RF2 Synonymous SNV A393A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 136883 chr5 145428746 145428746 C T rs34737526 SH3RF2 Synonymous SNV G420G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.72 136884 chr17 10427913 10427913 C T rs145099248 MYH2 Nonsynonymous SNV R1682H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 34 136885 chr1 39951304 39951304 T G rs138819868 MACF1 Nonsynonymous SNV F5377L 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 136886 chr17 42476408 42476408 C G rs757727627 GPATCH8 Nonsynonymous SNV E935Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 136887 chr17 18238888 18238888 T G SHMT1 Nonsynonymous SNV N168H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 27.2 136888 chr17 43003521 43003521 C T rs752125912 KIF18B Nonsynonymous SNV R829Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 136889 chr17 43013692 43013692 C T rs200263126 KIF18B Synonymous SNV T7T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 136890 chr17 42982206 42982206 C T FAM187A Synonymous SNV L337L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.415 136891 chr17 43045293 43045293 C T rs552223248 C1QL1 Nonsynonymous SNV A42T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 136892 chr17 4488092 4488092 G A rs558818979 SMTNL2 Synonymous SNV Q64Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 8.889 136893 chr1 42693596 42693596 C T rs757198527 FOXJ3 Synonymous SNV V162V 0 0 0.01 0 0 0 0 3 0 0 0 0 15.66 136894 chr17 45915734 45915734 G A rs199980564 SCRN2 Nonsynonymous SNV P341S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 136895 chr1 43296456 43296456 G A rs146429994 ERMAP Nonsynonymous SNV G35S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.053 136896 chr4 57180701 57180701 A G rs181288707 CRACD Nonsynonymous SNV R345G 0.006 0 0.01 4 7 0 0.01 3 0 0 0 1 13.91 136897 chr5 77409635 77409635 C T AP3B1 Synonymous SNV R681R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.303 136898 chr5 150028639 150028639 A G rs41520647 SYNPO Nonsynonymous SNV K268E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 136899 chr5 78338216 78338216 C T DMGDH Synonymous SNV K361K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 136900 chr1 45793837 45793837 G A rs148694275 HPDL Synonymous SNV E339E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.1 136901 chr17 55183726 55183726 G A rs61731968 AKAP1 Nonsynonymous SNV E301K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 3.924 136902 chr4 68374538 68374538 C T rs200998915 CENPC Nonsynonymous SNV C633Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.027 136903 chr17 55191921 55191921 G A rs73317574 AKAP1 Synonymous SNV A735A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.04 136904 chr17 56385076 56385076 C T rs199511069 TSPOAP1 Nonsynonymous SNV V1567I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.45 136905 chr5 79950731 79950731 - GCCCGCAGG MSH3 P63_P64insAGP 0.001 0 0 0 1 0 0 0 0 0 0 0 136906 chr17 56399682 56399682 C T rs201355940 TSPOAP1 Nonsynonymous SNV R410Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23 136907 chr5 150946045 150946045 G A rs142781014 FAT2 Synonymous SNV N816N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.975 136908 chr17 26731743 26731743 G A rs188529539 SLC46A1 Synonymous SNV L324L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.11 136909 chr17 18781089 18781089 C T rs758725138 PRPSAP2 Synonymous SNV G66G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 13.68 136910 chr17 27064355 27064355 G C rs779777153 NEK8 Nonsynonymous SNV S217T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 136911 chr5 90449188 90449188 G T rs397517428 ADGRV1 Nonsynonymous SNV D6259Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 136912 chr17 4907294 4907294 A C rs146872023 KIF1C Nonsynonymous SNV Q289P 0.003 0.016 0 3 4 6 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 136913 chr17 51900666 51900666 C T rs145539514 KIF2B Nonsynonymous SNV P91L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 2.411 136914 chr1 55248073 55248073 C T rs867548010 TTC22 Synonymous SNV L366L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 136915 chr5 170222242 170222242 C T rs199700931 GABRP Nonsynonymous SNV R91C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 136916 chr17 60059833 60059835 TCC - MED13 G1177del 0.001 0.008 0 0 1 3 0 0 0 0 0 0 136917 chr17 60837337 60837337 G A rs78457484 MARCHF10 Nonsynonymous SNV P81S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 8.036 136918 chr17 61557201 61557201 G A rs767340249 ACE Nonsynonymous SNV A195T 0.001 0.01 0 0 1 4 0 0 0 0 0 0 10.38 136919 chr5 176026006 176026006 G A rs149757860 GPRIN1 Nonsynonymous SNV S277F 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 4.987 136920 chr17 59924505 59924505 A G rs4988347 BRIP1 Nonsynonymous SNV L195P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 4.462 136921 chr17 34937815 34937815 A G rs780428305 GGNBP2 Synonymous SNV Q354Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 2.798 136922 chr1 64644056 64644056 G A ROR1 Nonsynonymous SNV V778M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 136923 chr17 26910871 26910871 G A rs149474751 SPAG5 Nonsynonymous SNV T849M 0 0 0 2 0 0 0.005 0 0 0 0 0 15.71 136924 chr5 177565108 177565108 G A RMND5B 0 0.003 0 0 0 1 0 0 0 0 0 0 16.24 136925 chr17 62076086 62076086 A G rs1016855391 PRR29, PRR29 Nonsynonymous SNV Q27R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 136926 chr17 65718750 65718750 A G rs79434722 NOL11 Synonymous SNV E172E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.543 136927 chr17 65722704 65722704 C G rs76234567 NOL11 Nonsynonymous SNV L83V 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 9.698 136928 chr5 179320308 179320308 T C rs199690704 TBC1D9B Nonsynonymous SNV N246S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.7 136929 chr5 180049808 180049808 T C rs35874891 FLT4 Nonsynonymous SNV N527S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.43 136930 chr5 135383016 135383016 C T rs369362360 TGFBI Synonymous SNV N226N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 16.28 136931 chr17 72927123 72927123 G A rs6501741 OTOP2 Nonsynonymous SNV G465R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.001 136932 chr17 6918073 6918073 A T rs994405621 RNASEK-C17orf49 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.1 136933 chr17 71282576 71282576 G A CDC42EP4 Nonsynonymous SNV L22F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 136934 chr17 71437028 71437028 G C rs61752534 SDK2 Synonymous SNV T216T 0.02 0.013 0.003 5 23 5 0.013 1 0 0 0 0 9.006 136935 chr17 3585200 3585200 C T rs1131057 P2RX5 Nonsynonymous SNV E328K 0.004 0 0 2 5 0 0.005 0 0 0 0 0 25.3 136936 chr17 73498809 73498809 G A rs371723256 CASKIN2 Synonymous SNV A700A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.926 136937 chr17 3629357 3629357 C G rs559414438 HASPIN Nonsynonymous SNV L710V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.2 136938 chr4 122728724 122728724 A G rs202243579 EXOSC9 Synonymous SNV P184P 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 9.565 136939 chr6 6654858 6654858 T C rs1042046047 LY86 X163R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 136940 chr17 40939483 40939483 C G rs57737815 WNK4 Nonsynonymous SNV P219R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 19.46 136941 chr17 7366166 7366166 G A rs151185987 ZBTB4 Nonsynonymous SNV A712V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.894 136942 chr17 40970241 40970241 A T rs77552925 BECN1 Synonymous SNV A151A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.2 136943 chr17 40996843 40996843 T C rs542750981 AOC2 Nonsynonymous SNV V67A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 136944 chr17 41001305 41001305 C T rs33923044 AOC2 Synonymous SNV R597R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.13 136945 chr17 41008357 41008357 A G rs8078145 AOC3 Synonymous SNV T151T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.639 136946 chr17 41008373 41008373 G A rs477207 AOC3 Nonsynonymous SNV G157S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.83 136947 chr17 39412109 39412109 A G rs774884956 KRTAP9-9 Nonsynonymous SNV T158A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.49 136948 chr6 15520382 15520382 C G rs200753446 JARID2 Nonsynonymous SNV P1042R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 136949 chr17 41847175 41847175 C A rs188130459 DUSP3 Synonymous SNV V120V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.76 136950 chr8 17601158 17601158 C G MTUS1 Nonsynonymous SNV D748H 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 23.6 136951 chr8 17726452 17726452 A T rs771850046 FGL1 Stop gain Y188X 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 38 136952 chr1 9063578 9063578 C T rs148918561 SLC2A7 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24 136953 chr17 73494391 73494391 G T rs148064514 TMEM94 Nonsynonymous SNV V1219F 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 19.05 136954 chr17 73494400 73494400 C T rs141765616 TMEM94 Nonsynonymous SNV P1222S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 11.86 136955 chr17 73566318 73566318 G T rs143998947 LLGL2 Nonsynonymous SNV R619L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 21.9 136956 chr17 42635239 42635239 G A FZD2 Synonymous SNV L61L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.755 136957 chr17 42837103 42837103 A G rs150671139 ADAM11 Synonymous SNV Q25Q 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 0.021 136958 chr4 147561333 147561333 C T rs200464919 POU4F2 Synonymous SNV A201A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 136959 chr6 25420394 25420394 T A CARMIL1 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 136960 chr1 92649813 92649813 A G rs760884384 KIAA1107 Nonsynonymous SNV M1256V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.192 136961 chr1 9305010 9305010 T C rs75652807 H6PD Nonsynonymous SNV I17T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 136962 chr17 74086444 74086444 G A EXOC7 Synonymous SNV S281S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 136963 chr17 3937430 3937430 C G ZZEF1 Nonsynonymous SNV A2155P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 32 136964 chr17 7480240 7480240 G A rs147550900 SNORD10 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 136965 chr17 7492543 7492543 C A SOX15 Nonsynonymous SNV G151V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.701 136966 chr4 156764904 156764904 G T rs140518137 ASIC5 Nonsynonymous SNV P264T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.4 136967 chr17 7750528 7750528 C A rs749209095 KDM6B Nonsynonymous SNV P339T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 136968 chr4 159140518 159140518 T C rs200634889 TMEM144 Nonsynonymous SNV I130T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.491 136969 chr20 1373578 1373578 C T MIR6869 0 0 0.003 0 0 0 0 1 0 0 0 0 8.496 136970 chr17 42744114 42744116 ATC - rs532603101 MEIOC I279del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 136971 chr6 30954251 30954251 - TGGGAC rs756324711 MUC21 I102_V552delinsTGISIATNSESSTTSSGASTATNSESSTPSSGASTATNSDSSTTSSGASTATNSDSSTTSSEASTATNSESSTTSSGASTATNSESSTVSSRASTATNSESSTTSSGASTATNSESRTTSNGAGTATNSESSTTSSGASTATNSESSTPSSGAGTATNSESSTTSSGAGTATNSESSTVSSGISTVTNSESSTPSSGANTATNSESSTTSSGANTATNSDSSTTSSGASTATNSESSTTSSGASTATNSESSTTSSGASTATNSGSSTTSSGTSTATNSESSTVSSGASTATTSESSTTSSGASTATNSESSTVSSGASTATNSESSTTSSGANTATNSGSSVTSAGSGTAALTGMHTTSHSASTAVSEAKPGGSLVPWEIFLITLVSVVAAVGLFAGLFFCVRNSLSLRNTFNTAVYHPHGLNHGLGPGPGGNHGAPHRPRWSPNWFWRRPVSSIAMEMSGRNSGP* 0 0.005 0 0 0 2 0 0 0 1 0 0 136972 chr17 7644153 7644153 A G rs893752774 DNAH2 Nonsynonymous SNV K511R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 136973 chr17 76487606 76487606 G A rs371615907 DNAH17 Synonymous SNV D2196D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.884 136974 chr5 150911525 150911525 T C rs753347885 FAT2 Nonsynonymous SNV N3145S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 136975 chr17 43322245 43322245 C T FMNL1 Synonymous SNV F859F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 136976 chr8 28929820 28929820 A C rs202077289 KIF13B Nonsynonymous SNV M1512R 0.007 0 0.007 0 8 0 0 2 0 0 0 0 0.002 136977 chr17 76554269 76554269 G A rs559643725 DNAH17 Nonsynonymous SNV A700V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.6 136978 chr17 7673605 7673605 A G rs11868946 DNAH2 Nonsynonymous SNV E1326G 0.003 0.013 0.01 5 3 5 0.013 3 0 0 0 0 18.81 136979 chr17 78399348 78399349 GA - ENDOV R169Sfs*26 0.003 0 0 0 4 0 0 0 0 0 0 0 136980 chr17 45367092 45367092 A G rs201550717 ITGB3 Nonsynonymous SNV N329D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.4 136981 chr17 76803266 76803266 G A rs201302268 USP36 Synonymous SNV S620S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 7.913 136982 chr17 45689892 45689892 C T rs370834075 NPEPPS Nonsynonymous SNV T721M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 136983 chr17 49272615 49272615 A C rs755730081 MBTD1 Synonymous SNV G444G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.515 136984 chr5 156760416 156760416 A G rs139353471 CYFIP2 Nonsynonymous SNV I757V 0.007 0.003 0.014 0 8 1 0 4 0 0 0 0 22.8 136985 chr5 156915323 156915323 G C rs11466803 ADAM19 Nonsynonymous SNV P834A 0.006 0.003 0.014 0 7 1 0 4 0 0 0 0 Benign 9.694 136986 chr8 41507672 41507672 C T rs528765157 NKX6-3 Nonsynonymous SNV D114N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 136987 chr17 79512805 79512805 A G rs201434869 FAAP100 Synonymous SNV P759P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.07 136988 chr17 4645782 4645782 C T rs61745817 ZMYND15 Synonymous SNV T380T 0.002 0.013 0 0 2 5 0 0 0 0 0 0 14.94 136989 chr4 184431982 184431982 T C rs139310893 ING2 Synonymous SNV F200F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.013 136990 chr17 78064170 78064200 AACACAGGACACACACAGCACGTGCATGAAC - CCDC40 E1022E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 136991 chr17 5357157 5357157 C T rs143592214 DHX33 Nonsynonymous SNV V258M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 136992 chr8 55533992 55533992 C T rs568059775 RP1 Synonymous SNV L156L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.547 136993 chr17 4720292 4720292 A G rs772134492 PLD2 Nonsynonymous SNV H548R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 136994 chr17 47376097 47376097 A C rs755882389 ZNF652 Nonsynonymous SNV V500G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 136995 chr17 78306396 78306396 G A rs553109860 RNF213 Nonsynonymous SNV G1370S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 136996 chr6 41002523 41002523 C A rs753340503 UNC5CL Nonsynonymous SNV M97I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 136997 chr17 48265471 48265471 C T rs372029024 COL1A1 Nonsynonymous SNV A1083T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 136998 chr6 41010793 41010793 T C rs757343666 TSPO2 Synonymous SNV T23T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.186 136999 chr6 41117596 41117596 C T rs758242033 TREML1 Nonsynonymous SNV D117N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.88 137000 chr6 41613994 41613994 C T rs139421635 MDFI Synonymous SNV I69I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 14.18 137001 chr20 23584182 23584182 C T rs200359394 CST9 Nonsynonymous SNV A149T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 137002 chr17 79169734 79169734 C T rs118151864 CEP131 Synonymous SNV K639K 0.009 0.003 0.003 6 11 1 0.015 1 0 0 0 0 12.23 137003 chr4 187527246 187527246 C A rs374842477 FAT1 Nonsynonymous SNV G3443V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.432 137004 chr17 8132524 8132524 C T CTC1 Nonsynonymous SNV G1053R 0.002 0 0 0 2 0 0 0 0 0 0 0 28 137005 chr5 175796243 175796243 - T rs753077529 ARL10 *277delinsLRQSLVLSPRLECSGVISAHCNLHLPGSSNSCASAFRVAGITGMCHHTQPIFVFLVEVEFCHVGQAGLELLTSSDPPASASQSAGIIGMSHCVWPPGVVLNNISSYASVDPIKYGMLFPFYRWDRLVL* 0.001 0 0 0 1 0 0 0 0 0 0 0 137006 chr17 4873820 4873820 G C rs144421247 CAMTA2 Nonsynonymous SNV I942M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 137007 chr17 61681950 61681950 C T rs773838513 TACO1 Nonsynonymous SNV R113C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 137008 chr20 31508015 31508015 G A rs116944486 EFCAB8 Synonymous SNV V802V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.967 137009 chr5 176919607 176919607 C G rs113574636 PDLIM7 Nonsynonymous SNV E56D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.52 137010 chr17 55078316 55078316 G A rs966596010 SCPEP1 Synonymous SNV V365V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.764 137011 chr20 3340172 3340172 C T rs371430958 C20orf194 Synonymous SNV L227L 0 0 0.007 0 0 0 0 2 0 0 0 0 13.74 137012 chr6 43305380 43305380 C T rs147797523 ZNF318 Nonsynonymous SNV G2119D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 137013 chr6 43412635 43412635 C T rs776865951 ABCC10 Synonymous SNV L905L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.451 137014 chr17 56281674 56281674 G A rs137940518 EPX Nonsynonymous SNV G680S 0 0.01 0.003 1 0 4 0.003 1 0 0 0 0 27 137015 chr5 178548684 178548684 C T rs763966576 ADAMTS2 Synonymous SNV S1052S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 137016 chr5 178996384 178996384 C T rs140249165 RUFY1 Synonymous SNV L154L 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 17.2 137017 chr20 36024647 36024647 C T rs150488614 SRC Synonymous SNV S212S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 137018 chr18 20572949 20572949 C T rs1804732 RBBP8 Nonsynonymous SNV H387Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.481 137019 chr18 21390420 21390420 G C rs373414001 LAMA3 Nonsynonymous SNV R565P 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 137020 chr17 59485758 59485758 C T rs61751978 TBX2 Nonsynonymous SNV P677L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 32 137021 chr20 36952427 36952427 G A rs745989975 BPI Synonymous SNV K308K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.397 137022 chr20 37555322 37555322 - GCGGCGGCG FAM83D A86_E87insAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 137023 chr6 47544838 47544838 A T rs141778404 CD2AP Nonsynonymous SNV K301M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.9 137024 chr5 16794853 16794853 C T rs761301812 MYO10 Synonymous SNV R123R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 15.62 137025 chr17 61483598 61483598 C T rs138962211 TANC2 Synonymous SNV S1109S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.59 137026 chr17 6981403 6981403 G A rs78714016 CLEC10A Nonsynonymous SNV R33C 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 24.5 137027 chr17 62076267 62076267 G A PRR29-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 7.244 137028 chr18 18546896 18546896 T G rs35881519 ROCK1 Nonsynonymous SNV T1112P 0.009 0.01 0 0 11 4 0 0 0 0 0 0 19.83 137029 chr17 63957628 63957628 G A rs202112505 CEP112 Stop gain Q567X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 45 137030 chr20 44531203 44531203 C T rs200022812 PLTP Nonsynonymous SNV R233Q 0 0 0.01 0 0 0 0 3 0 0 0 0 9.589 137031 chr18 31324813 31324813 T G rs377152896 ASXL3 Synonymous SNV P1667P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 137032 chr20 44531218 44531218 A G rs373772930 PLTP Nonsynonymous SNV L228S 0 0 0.01 0 0 0 0 3 0 0 0 0 29.5 137033 chr17 64881123 64881123 C T rs139714730 CACNG5 Synonymous SNV Y198Y 0.003 0.016 0 0 3 6 0 0 0 0 0 0 10.72 137034 chr20 44642002 44642002 G A rs770597186 MMP9 Nonsynonymous SNV R480H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 137035 chr17 72349068 72349068 G A rs768247734 KIF19 Nonsynonymous SNV A697T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 137036 chr17 72578390 72578390 G A rs778353253 CD300LD Nonsynonymous SNV A147V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.52 137037 chr6 63990919 63990919 A G rs774869586 LGSN Synonymous SNV P179P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 137038 chr18 29044200 29044200 A G rs372851025 DSG3 Nonsynonymous SNV N376D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 137039 chr18 43796179 43796179 C T rs199666003 C18orf25 Synonymous SNV S111S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 137040 chr20 49493036 49493036 C T rs146507396 BCAS4 Nonsynonymous SNV P123L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.25 137041 chr18 31599405 31599405 G A NOL4 Synonymous SNV L26L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 5.993 137042 chr6 20212366 20212366 C G rs987421730 MBOAT1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 137043 chr18 28666611 28666611 T C rs142653119 DSC2 Synonymous SNV P290P 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Likely benign 2.721 137044 chr18 28672067 28672067 T C rs117812913 DSC2 Synonymous SNV T117T 0.009 0.01 0.007 2 10 4 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.91 137045 chr18 48447096 48447096 G A rs200088300 ME2 Nonsynonymous SNV E304K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 137046 chr20 56138784 56138784 G A rs776767788 PCK1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 137047 chr17 73870738 73870738 G A rs538437998 TRIM47 Synonymous SNV R581R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.344 137048 chr5 63509610 63509610 C G RNF180 Nonsynonymous SNV L153V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 137049 chr5 63509720 63509720 A G RNF180 Synonymous SNV T189T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 137050 chr17 73911116 73911116 C T FBF1 Synonymous SNV A870A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.5 137051 chr5 66459863 66459863 C T rs746229240 MAST4 Nonsynonymous SNV A1358V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 137052 chr20 57597941 57597941 - G TUBB1 Frameshift insertion S35Efs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 137053 chr6 83880099 83880099 G A rs34873318 PGM3 Synonymous SNV Y407Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.111 137054 chr18 32825542 32825542 G A rs61736985 ZNF397 Synonymous SNV G291G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.196 137055 chr18 46343660 46343660 C T rs141764588 CTIF Synonymous SNV F480F 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 17.84 137056 chr20 5927070 5927072 TCT - rs200648792 TRMT6 K79del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 137057 chr17 74569441 74569441 G A ST6GALNAC2 Synonymous SNV I122I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 137058 chr17 74625633 74625633 C T rs115756441 ST6GALNAC1 Nonsynonymous SNV G98R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.013 137059 chr20 59829904 59829904 C T rs149390633 CDH4 Nonsynonymous SNV T27I 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Likely benign 18.86 137060 chr18 48335734 48335734 G - rs758530860 MRO L13Ffs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 137061 chr17 74774396 74774396 G A rs779304619 MFSD11 Nonsynonymous SNV A386T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 137062 chr6 88757704 88757704 G A rs61738528 SPACA1 Synonymous SNV A27A 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 9.739 137063 chr5 72874646 72874646 G A rs146995054 UTP15 Nonsynonymous SNV R182Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21.9 137064 chr5 73136582 73136582 G C rs377328399 ARHGEF28 Nonsynonymous SNV R162T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.7 137065 chr18 54444027 54444027 G A rs375783471 WDR7 Nonsynonymous SNV V955I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.14 137066 chr20 60962939 60962939 C G RPS21 Nonsynonymous SNV T52S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 137067 chr18 43417684 43417684 G A rs62095363 SIGLEC15 Nonsynonymous SNV A107T 0.008 0.005 0.007 0 9 2 0 2 0 0 0 0 18.11 137068 chr6 31132956 31132956 G C rs17851818 POU5F1 Synonymous SNV P59P 0.01 0 0.007 2 12 0 0.005 2 6 0 1 1 7.765 137069 chr17 73518081 73518081 G T rs113994152 TSEN54 Nonsynonymous SNV A307S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 25.8 137070 chr20 61473438 61473438 G A rs375210580 TCFL5 Synonymous SNV S464S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 137071 chr20 61522352 61522352 C G rs150928701 DIDO1 Nonsynonymous SNV Q1167H 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 23.1 137072 chr6 105573338 105573338 T C BVES Nonsynonymous SNV K156R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 137073 chr17 73636871 73636871 C A rs1012899518 SMIM5 Nonsynonymous SNV A43D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 137074 chr8 145086827 145086827 C T rs151275778 SPATC1 Synonymous SNV L48L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.767 137075 chr18 74637173 74637173 C T rs183899517 ZNF236 Synonymous SNV C1230C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 14.33 137076 chr20 6759659 6759659 C T rs752765148 BMP2 Synonymous SNV L372L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.559 137077 chr18 59212323 59212323 A T CDH20 Nonsynonymous SNV S532C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 137078 chr18 60384100 60384100 G T rs566159756 PHLPP1 Nonsynonymous SNV R395L 0.009 0.005 0 5 10 2 0.013 0 0 0 0 0 6.03 137079 chr6 116560142 116560142 A T rs755539752 NT5DC1 Nonsynonymous SNV T370S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 137080 chr21 15889292 15889292 C G SAMSN1 Nonsynonymous SNV G67A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 137081 chr17 76181137 76181137 G A rs144795989 TK1 Nonsynonymous SNV R70W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 137082 chr17 72365619 72365619 C T rs967594547 GPR142 Nonsynonymous SNV R86C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.9 137083 chr6 38980000 38980000 C T rs143714496 DNAH8 Nonsynonymous SNV R4244C 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Likely benign 35 137084 chr18 72173107 72173107 G A rs1046137391 CNDP2 Synonymous SNV P76P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 137085 chr18 67802501 67802501 T C rs145832674 RTTN Nonsynonymous SNV H23R 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Likely benign 12.02 137086 chr6 125284428 125284428 T C RNF217 Synonymous SNV S246S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.579 137087 chr21 32119362 32119362 G A rs747694701 KRTAP21-2 Synonymous SNV Y53Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.268 137088 chr21 33057381 33057381 G C rs202219603 SCAF4 Synonymous SNV T808T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 2.115 137089 chr6 128505803 128505803 T C rs141443956 PTPRK Synonymous SNV L183L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.093 137090 chr17 76831517 76831517 G A rs201961301 USP36 Nonsynonymous SNV T107M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.057 137091 chr17 7976248 7976248 C T rs931880753 ALOX12B Synonymous SNV P649P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 137092 chr21 34922417 34922417 C T rs769052784 SON Nonsynonymous SNV P294S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 137093 chr5 102295584 102295584 C A rs148182169 PAM Nonsynonymous SNV T304K 0.006 0.003 0 0 7 1 0 0 0 0 0 0 35 137094 chr17 80193928 80193928 C T rs144588703 SLC16A3 Nonsynonymous SNV A15V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 24.8 137095 chr21 37442268 37442268 C G rs781129548 LOC100133286 0 0 0.014 0 0 0 0 4 0 0 1 0 11.43 137096 chr21 37442269 37442269 C G rs748009980 LOC100133286 0 0 0.014 0 0 0 0 4 0 0 1 0 9.833 137097 chr6 43535090 43535090 G A rs753088331 XPO5 Nonsynonymous SNV A217V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 137098 chr9 14808009 14808009 G A rs767135696 FREM1 Nonsynonymous SNV A1006V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.07 137099 chr18 77171416 77171416 G A rs146992531 NFATC1 Nonsynonymous SNV G381S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 6.429 137100 chr6 145075872 145075872 G A rs745642642 UTRN Nonsynonymous SNV R2791H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 137101 chr6 145956611 145956611 T C rs141919651 EPM2A Nonsynonymous SNV N163S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.12 137102 chr17 8193945 8193945 C T rs886362237 SLC25A35 Nonsynonymous SNV E239K 0 0.005 0 0 0 2 0 0 0 0 0 0 11.27 137103 chr5 121799237 121799237 T G rs187197845 SNCAIP Nonsynonymous SNV I593M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.15 137104 chr17 74625517 74625517 T C rs139045542 ST6GALNAC1 Synonymous SNV T136T 0 0 0 5 0 0 0.013 0 0 0 0 0 0.031 137105 chr21 43164252 43164252 C T RIPK4 Nonsynonymous SNV D329N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 137106 chr5 126776499 126776499 G A rs373093349 MEGF10 Nonsynonymous SNV D768N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 137107 chr21 43442466 43442466 G A rs543387742 ZNF295-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.417 137108 chr21 43543188 43543188 C T rs141861682 UMODL1 Synonymous SNV N1081N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.21 137109 chr17 8020120 8020120 C T ALOXE3 Nonsynonymous SNV C109Y 0.004 0.01 0 0 5 4 0 0 0 0 0 0 23.7 137110 chr17 80202698 80202698 G A rs759798079 CSNK1D Nonsynonymous SNV R403W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 137111 chr6 52701085 52701085 T C rs146408369 GSTA5 Nonsynonymous SNV Y74C 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23.2 137112 chr21 43905797 43905797 G T rs371312378 RSPH1 Synonymous SNV G123G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.136 137113 chr19 13338290 13338290 C T rs144137960 CACNA1A Synonymous SNV P1860P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 17.54 137114 chr17 8158914 8158914 G C PFAS Nonsynonymous SNV S160T 0.004 0.01 0 0 5 4 0 0 0 0 0 0 14.16 137115 chr18 21115645 21115645 C T rs374526072 NPC1 Nonsynonymous SNV E1089K 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 Uncertain significance 35 137116 chr6 56481742 56481742 C T rs766809207 DST Nonsynonymous SNV A2175T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.48 137117 chr17 8383821 8383821 G T rs150332952 MYH10 Synonymous SNV R1732R 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 24.5 137118 chr18 21407417 21407417 C T rs61751701 LAMA3 Nonsynonymous SNV L937F 0.008 0.016 0 4 9 6 0.01 0 0 0 0 0 24.1 137119 chr6 155458738 155458738 C T rs116960376 TIAM2 Nonsynonymous SNV T541M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 137120 chr17 8413233 8413233 G A rs141845979 MYH10 Nonsynonymous SNV A965V 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 25.4 137121 chr6 57048647 57048647 G C rs752395475 BAG2 Nonsynonymous SNV E99Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 137122 chr19 14263179 14263179 G C rs369479385 ADGRL1 Synonymous SNV T1197T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.848 137123 chr19 11508184 11508184 C T rs376798441 RGL3 Synonymous SNV S612S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 137124 chr6 155574105 155574105 C T rs139019519 TIAM2 Synonymous SNV H306H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.89 137125 chr18 21532974 21532974 C T LAMA3 Synonymous SNV L1588L 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 15.46 137126 chr19 14580222 14580222 C T rs373941894 PKN1 Synonymous SNV F682F 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 15.61 137127 chr19 1467976 1467976 C T rs758444908 APC2 Nonsynonymous SNV P1558L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.87 137128 chr19 11978629 11978629 A G rs140274514 ZNF439 Nonsynonymous SNV K113E 0.004 0 0 0 5 0 0 0 0 0 0 0 23.9 137129 chr19 12244140 12244140 T C rs779729546 ZNF20 Synonymous SNV Q284Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.306 137130 chr19 14854338 14854338 C T rs117617387 ADGRE2 Nonsynonymous SNV R728Q 0.004 0.01 0.01 2 5 4 0.005 3 0 0 0 0 13.24 137131 chr18 2891940 2891940 A G EMILIN2 Synonymous SNV Q605Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.173 137132 chr19 15122012 15122012 - GTGCAC CCDC105 H127_A128insVH 0.003 0 0 2 4 0 0.005 0 0 0 0 0 137133 chr19 12186176 12186176 G T rs778378147 ZNF844 Stop gain G81X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 137134 chr19 14590315 14590315 G A rs147583484 GIPC1 Nonsynonymous SNV A129V 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 10.73 137135 chr19 13318694 13318699 CTGCTG - CACNA1A Q2324_Q2325del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 137136 chr6 87968374 87968374 C T rs183279203 ZNF292 Nonsynonymous SNV T1676I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.2 137137 chr18 28602409 28602409 G A rs149148363 DSC3 Nonsynonymous SNV R279C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 137138 chr9 79959138 79959138 C T rs200107412 VPS13A Nonsynonymous SNV P2327S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 23.7 137139 chr6 88231191 88231191 C T rs34647222 RARS2 Nonsynonymous SNV M167I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 137140 chr22 19165508 19165508 C T SLC25A1 Synonymous SNV L90L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 137141 chr6 90039533 90039533 G A UBE2J1 Synonymous SNV G274G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.242 137142 chr6 168366582 168366582 C T rs755952991 AFDN Nonsynonymous SNV S1655F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.03 137143 chr18 3141959 3141959 C T rs369493400 MYOM1 Nonsynonymous SNV G668D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 27.5 137144 chr22 21384017 21384017 G A rs146285578 SLC7A4 Nonsynonymous SNV R536W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 137145 chr19 16799175 16799175 C T TMEM38A Nonsynonymous SNV A298V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 137146 chr17 8449976 8449976 C T rs148333895 MYH10 Synonymous SNV A378A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.81 137147 chr18 43796123 43796123 T C rs201155841 C18orf25 Nonsynonymous SNV C93R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.9 137148 chr19 1646413 1646413 G C rs780251865 TCF3 Nonsynonymous SNV P29R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.6 137149 chr18 45555748 45555748 G A rs186779400 ZBTB7C Synonymous SNV N581N 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 2.433 137150 chr19 16515512 16515512 C G EPS15L1 Nonsynonymous SNV E439Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 137151 chr19 17417011 17417011 C A rs759418477 MRPL34 Nonsynonymous SNV D34E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.73 137152 chr22 26286756 26286756 C T rs527443272 MYO18B Nonsynonymous SNV R1451C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 137153 chr7 5105115 5105115 G A rs61735209 RBAK Synonymous SNV E676E 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 7.854 137154 chr18 48241490 48241490 C T rs200093759 MAPK4 Synonymous SNV S196S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.41 137155 chr22 26890229 26890231 CTC - rs762805603 TFIP11 E647del 0 0 0.003 0 0 0 0 1 0 0 0 0 137156 chr22 26937269 26937269 G A TPST2 Nonsynonymous SNV R110C 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 137157 chr18 61585302 61585302 C A rs150764677 SERPINB10 Nonsynonymous SNV A113E 0 0.01 0 0 0 4 0 0 0 0 0 0 21.1 137158 chr18 61649003 61649003 T A rs202188705 SERPINB8 Nonsynonymous SNV L119M 0 0.01 0 0 0 4 0 0 0 0 0 0 22.5 137159 chr22 30418645 30418645 C T rs749363294 MTMR3 Synonymous SNV C1091C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 137160 chr18 55309073 55309073 C A rs141086246 LOC100505549 0 0.003 0 0 0 1 0 0 0 0 0 0 2.249 137161 chr19 18543787 18543787 C T rs145213164 SSBP4 Synonymous SNV S260S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 137162 chr19 18548562 18548562 G C ISYNA1 Synonymous SNV P43P 0.007 0.003 0 2 8 1 0.005 0 1 0 0 0 9.427 137163 chr18 56205373 56205373 - G rs561573547 ALPK2 Frameshift insertion F683Ifs*38 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 137164 chr19 17972143 17972143 C T rs147643488 RPL18A Synonymous SNV P20P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.4 137165 chr18 712357 712410 TACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCT - ENOSF1 S60_M76del 0 0.003 0 0 0 1 0 0 0 0 0 0 137166 chr19 19744988 19744988 C T rs140486275 GMIP Nonsynonymous SNV R670Q 0.016 0.013 0 9 19 5 0.023 0 1 0 0 0 12.72 137167 chr6 130460778 130460778 A G rs374729843 L3MBTL3 Synonymous SNV L716L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.46 137168 chr19 18186647 18186647 C T rs142934088 IL12RB1 Synonymous SNV V204V 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.703 137169 chr5 158743810 158743810 G A rs139163137 IL12B Synonymous SNV F290F 0.002 0 0 0 2 0 0 0 0 0 0 0 4.935 137170 chr5 159840980 159840980 T C rs17856338 SLU7 Nonsynonymous SNV I126V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 1.166 137171 chr7 21583051 21583051 G C rs6966525 DNAH11 Nonsynonymous SNV G63A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.76 137172 chr6 139048522 139048522 T G rs937996120 GVQW2 0.001 0 0 0 1 0 0 0 0 0 0 0 4.931 137173 chr18 65181269 65181269 T G rs143469336 DSEL Synonymous SNV R193R 0.005 0.008 0 6 6 3 0.015 0 0 0 0 0 0.11 137174 chr9 125239726 125239726 G T rs369181396 OR1J1 Synonymous SNV T160T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.002 137175 chr18 67834206 67834206 T C rs200801705 RTTN Nonsynonymous SNV Y584C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 13.91 137176 chr19 19337821 19337821 C T rs143391780 NCAN Synonymous SNV G533G 0.004 0.005 0.007 4 5 2 0.01 2 0 0 0 0 7.533 137177 chr5 170736622 170736622 G T rs34255055 TLX3 Nonsynonymous SNV A85S 0.008 0.003 0.003 5 9 1 0.013 1 0 0 0 0 18.39 137178 chr18 9887493 9887493 T C rs140680585 TXNDC2 Synonymous SNV P339P 0.014 0.01 0.007 0 16 4 0 2 0 0 0 0 0.076 137179 chr19 2251240 2251240 T C rs577002391 AMH Nonsynonymous SNV F323L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.93 137180 chr6 149846309 149846309 G A PPIL4 Synonymous SNV S280S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 137181 chr9 127298234 127298234 G A rs371470390 NR6A1 Synonymous SNV T330T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.15 137182 chr18 46287868 46287868 C T CTIF Synonymous SNV L393L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.722 137183 chr18 47101892 47101892 A C LIPG Nonsynonymous SNV Y242S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 137184 chr22 41613223 41613223 T G L3MBTL2-AS1 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.872 137185 chr19 32873817 32873817 C T rs144208852 ZNF507 Nonsynonymous SNV S897F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 137186 chr22 42089854 42089854 A G C22orf46 0 0 0.003 0 0 0 0 1 0 0 0 0 0.954 137187 chr9 129870800 129870800 C T rs374312179 ANGPTL2 Nonsynonymous SNV V71I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.9 137188 chr19 11258551 11258551 G C SPC24 Nonsynonymous SNV H144D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.713 137189 chr19 10197961 10197961 C G rs368279366 SHFL Nonsynonymous SNV N60K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.1 137190 chr19 33980934 33980934 G A rs765917851 PEPD Synonymous SNV V93V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 137191 chr19 3452501 3452501 C T NFIC Nonsynonymous SNV P369L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 137192 chr19 33892733 33892733 G A rs764126413 PEPD Synonymous SNV D246D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.52 137193 chr19 13065301 13065301 C G GADD45GIP1 Nonsynonymous SNV Q130H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 137194 chr19 13220782 13220782 G A rs139341662 TRMT1 Synonymous SNV C90C 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 14.39 137195 chr19 1064239 1064239 C T ABCA7 Nonsynonymous SNV H2011Y 0.006 0.003 0 0 7 1 0 0 0 0 0 0 25.5 137196 chr9 134350304 134350304 C G PRRC2B Nonsynonymous SNV P930A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.66 137197 chr19 36230286 36230286 - GGCT rs772212266 IGFLR1 Frameshift insertion S134Afs*44 0.003 0 0 1 3 0 0.003 0 0 0 0 0 137198 chr7 51096424 51096424 C T COBL Nonsynonymous SNV G790E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.522 137199 chr6 165749665 165749665 A G rs148845227 PDE10A Synonymous SNV Y738Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.595 137200 chr19 36278527 36278527 A G rs867646780 ARHGAP33 Synonymous SNV P1020P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.683 137201 chr9 135206683 135206683 T C rs572884359 SETX Nonsynonymous SNV I331V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.66 137202 chr6 10924756 10924756 T C rs148762988 SYCP2L Nonsynonymous SNV I367T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 137203 chr22 51160259 51160259 T G rs200087210 SHANK3 Nonsynonymous SNV V1319G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.616 137204 chr7 803506 803506 C T rs73258248 DNAAF5 Nonsynonymous SNV R560C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 27.3 137205 chr19 12881780 12881780 C T rs534804079 HOOK2 Nonsynonymous SNV A290T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 137206 chr19 3759748 3759748 G A rs374857161 APBA3 Nonsynonymous SNV P172L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.5 137207 chr18 77895255 77895255 C T rs138705695 ADNP2 Synonymous SNV A653A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.881 137208 chr7 76908153 76908153 C T rs144226591 CCDC146 Nonsynonymous SNV R509W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 137209 chr19 14074049 14074049 G A RFX1 Nonsynonymous SNV A870V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 137210 chr7 82764235 82764235 T C rs370642928 PCLO Synonymous SNV T877T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.787 137211 chr2 11260975 11260975 G A rs79178007 FLJ33534 0 0 0.027 0 0 0 0 8 0 0 0 0 2.475 137212 chr2 112995893 112995893 C T rs112280995 ZC3H8 Synonymous SNV Q123Q 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.788 137213 chr7 87754974 87754974 G C ADAM22 Nonsynonymous SNV Q225H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 137214 chr19 39687733 39687733 G A rs777315585 NCCRP1 Synonymous SNV S37S 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 12.9 137215 chr7 89909179 89909179 T C rs201599221 CFAP69 Synonymous SNV L448L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.851 137216 chr9 140002045 140002045 C T rs201933207 MAN1B1 Synonymous SNV R609R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 16.42 137217 chr19 41235146 41235146 G A rs780267002 ITPKC Nonsynonymous SNV R432H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 137218 chr9 140009025 140009025 C T rs199711082 DPP7 Nonsynonymous SNV R24H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 137219 chr19 17451883 17451883 G T rs138116759 GTPBP3 Nonsynonymous SNV M367I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 14.3 137220 chr7 15652064 15652064 G A rs755907175 MEOX2 Nonsynonymous SNV A288V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 137221 chr19 3977976 3977976 G C rs139427550 EEF2 Synonymous SNV A636A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 9.999 137222 chr7 94049945 94049945 A G COL1A2 Synonymous SNV G760G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.311 137223 chr7 94931643 94931643 G A rs764433951 PON1 Synonymous SNV S261S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.155 137224 chr19 4207293 4207293 T C rs199801260 ANKRD24 Nonsynonymous SNV L174P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 137225 chr19 40330960 40330960 G T rs777313281 FBL Nonsynonymous SNV F97L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28 137226 chr7 99703891 99703891 C T rs140843407 AP4M1 Synonymous SNV L341L 0.007 0.01 0.007 7 8 4 0.018 2 0 0 0 0 Benign 12.21 137227 chr19 42341368 42341368 - G LYPD4 Frameshift insertion Q162Pfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 137228 chr7 100033389 100033389 C T rs200078456 PPP1R35 Synonymous SNV G151G 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 14.6 137229 chr19 41782194 41782194 C T rs144718578 HNRNPUL1 Synonymous SNV F170F 0.003 0 0 0 4 0 0 0 0 0 0 0 15.77 137230 chr19 42801477 42801477 T A rs760479127 PAFAH1B3 Nonsynonymous SNV E150V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 137231 chr19 1071340 1071340 G A rs753591775 ARHGAP45 Nonsynonymous SNV C18Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.632 137232 chr19 18368329 18368329 G A rs10451485 IQCN Synonymous SNV T1255T 0.002 0.003 0.007 1 2 1 0.003 2 1 0 0 0 6.008 137233 chr19 41248641 41248641 G A rs749565924 C19orf54 Synonymous SNV L79L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.278 137234 chr2 135815650 135815650 C T rs568229019 RAB3GAP1 Synonymous SNV L48L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.94 137235 chr19 18499428 18499428 C T GDF15 Nonsynonymous SNV P204S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 137236 chr19 18507074 18507074 G T rs34439430 LRRC25 Nonsynonymous SNV P234T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 10.34 137237 chr19 42433934 42433934 G A rs73550668 LOC100505585 0.001 0 0 0 1 0 0 0 0 0 0 0 3.898 137238 chr19 18542201 18542201 C T rs113198578 SSBP4 Synonymous SNV N136N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.57 137239 chr19 18547209 18547209 G A rs61743954 ISYNA1 Synonymous SNV N102N 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign 2.626 137240 chr19 42583664 42583664 C T rs199767748 ZNF574 Synonymous SNV G392G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 137241 chr19 42736811 42736811 T C GSK3A Synonymous SNV P374P 0.012 0.005 0 1 14 2 0.003 0 0 0 0 0 7.133 137242 chr19 18778648 18778648 C A rs115965259 KLHL26 Synonymous SNV P176P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 137243 chr19 42804432 42804432 C T rs759555406 PAFAH1B3 Nonsynonymous SNV R59H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 137244 chr19 19339135 19339135 G A rs763380137 NCAN Synonymous SNV E902E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.276 137245 chr2 152132337 152132337 T A rs764857882 NMI Nonsynonymous SNV I128L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 137246 chr19 43965527 43965527 G A rs34034481 LYPD3 Synonymous SNV A339A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.41 137247 chr19 20026119 20026119 G T rs764306084 ZNF93 Stop gain E12X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 137248 chr19 1257190 1257190 C T rs150148017 MIDN Synonymous SNV S442S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.84 137249 chr19 44103139 44103139 C T rs17849705 ZNF576 Nonsynonymous SNV P81L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 137250 chr19 44117106 44117106 C T rs78739853 SRRM5 Nonsynonymous SNV P278L 0.002 0 0 0 2 0 0 0 0 0 0 0 22 137251 chr19 44513250 44513250 C T rs111311736 ZNF230 Nonsynonymous SNV H53Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.734 137252 chr2 152534216 152534216 C T rs202124287 NEB Nonsynonymous SNV V1213I 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 3.754 137253 chr19 43097753 43097753 G - rs572450516 CEACAM8 L122Yfs*4 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 137254 chr6 39507896 39507896 G A rs142407346 KIF6 Nonsynonymous SNV P510S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 0.543 137255 chr2 165768200 165768200 A G rs774178211 SLC38A11 Synonymous SNV C181C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.681 137256 chr7 42011972 42011972 G A GLI3 Synonymous SNV C689C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 137257 chr2 166514291 166514291 G A CSRNP3 Nonsynonymous SNV E57K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 137258 chr19 18507110 18507110 C A rs771155177 LRRC25 Nonsynonymous SNV G222C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.8 137259 chr19 18507370 18507370 T C LRRC25 Nonsynonymous SNV K135R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 137260 chr7 43982519 43982519 T C rs376821261 POLR2J4 0.001 0 0 0 1 0 0 0 0 0 0 0 1.173 137261 chr7 44737854 44737854 G A rs755735126 OGDH Nonsynonymous SNV V804I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 137262 chr19 33183327 33183327 C G rs368543176 NUDT19 Nonsynonymous SNV P154R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.52 137263 chr19 33183351 33183351 C G rs372257079 NUDT19 Nonsynonymous SNV P162R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.148 137264 chr19 21300738 21300738 T C ZNF714 Nonsynonymous SNV L423P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 137265 chr19 45117071 45117071 C T rs773257137 IGSF23 Nonsynonymous SNV A39V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.3 137266 chr19 35250448 35250448 C A rs112895297 ZNF599 Stop gain E420X 0.003 0.005 0 0 4 2 0 0 0 0 0 0 40 137267 chr7 100634145 100634145 G A rs143984295 MUC12 Nonsynonymous SNV A101T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.006 137268 chr19 24116246 24116246 A C rs147413616 ZNF726 Nonsynonymous SNV H443P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 137269 chr19 46205107 46205107 T G QPCTL Nonsynonymous SNV M219R 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 17.73 137270 chr19 46215431 46215431 C T rs368643066 FBXO46 Synonymous SNV A441A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 8.522 137271 chr6 53519117 53519117 G A rs750057515 KLHL31 Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 137272 chr19 46893561 46893561 C T PPP5C Synonymous SNV P464P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.54 137273 chr19 33882255 33882255 G A rs149579451 PEPD Synonymous SNV H325H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign/Likely benign 11.7 137274 chr19 48183660 48183660 G A rs145963832 BICRA Synonymous SNV L411L 0.009 0.008 0.003 4 10 3 0.01 1 0 0 0 0 1.956 137275 chr19 3546152 3546152 G A rs560755848 MFSD12 Synonymous SNV F394F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.76 137276 chr7 123672720 123672720 C T rs144450298 TMEM229A Nonsynonymous SNV R113H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 137277 chr19 49232740 49232740 G A rs202177613 RASIP1 Synonymous SNV N429N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.28 137278 chr7 129710524 129710524 G C rs1062154 KLHDC10 Nonsynonymous SNV G14A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.1 137279 chr19 38631992 38631992 C T rs200785797 SIPA1L3 Synonymous SNV P1104P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.24 137280 chr19 49685865 49685865 G A rs201907325 TRPM4 Nonsynonymous SNV A78T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 137281 chr19 36342267 36342267 G A rs2285450 NPHS1 Synonymous SNV I98I 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 Benign 16.33 137282 chr19 49691898 49691898 G A rs172149856 TRPM4 Nonsynonymous SNV G228S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 137283 chr19 3959459 3959459 G C rs368652868 DAPK3 Synonymous SNV A335A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.367 137284 chr19 39908644 39908644 C T PLEKHG2 Nonsynonymous SNV P269S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 28.7 137285 chr19 50169216 50169216 C G rs150028589 BCL2L12 Nonsynonymous SNV P46A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.014 137286 chr19 50311702 50311702 A G rs375291937 FUZ Synonymous SNV Y298Y 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 Likely benign 0.287 137287 chr7 99250318 99250318 T C rs28365092 CYP3A5 Nonsynonymous SNV I371V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 137288 chr7 100162556 100162556 C T AGFG2 Nonsynonymous SNV T463I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 137289 chr7 100281249 100281249 T C GIGYF1 Nonsynonymous SNV E659G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 137290 chr19 37904919 37904919 T C rs374062239 ZNF569 Nonsynonymous SNV Y55C 0.005 0.01 0 3 6 4 0.008 0 0 0 0 0 24.4 137291 chr7 142561453 142561453 G A EPHB6 Synonymous SNV G55G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 137292 chr19 52537931 52537933 ATA - rs771174079 ZNF432 I334del 0.001 0 0 0 1 0 0 0 0 0 0 0 137293 chr19 51301595 51301595 C T rs148421201 C19orf48 Synonymous SNV Q37Q 0.002 0 0.01 0 2 0 0 3 0 0 0 0 4.741 137294 chr19 52793815 52793815 C T rs758165885 ZNF766 Synonymous SNV Y257Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.389 137295 chr10 74999099 74999099 A G rs372592126 FAM149B1 Synonymous SNV A544A 0.004 0 0 0 5 0 0 0 0 0 0 0 2.592 137296 chr19 51984673 51984673 G A rs182756137 CEACAM18 Nonsynonymous SNV V143I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.915 137297 chr2 21232410 21232410 G A rs754565622 APOB Nonsynonymous SNV R2444C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.9 137298 chr6 128404958 128404958 C T rs61756668 PTPRK Nonsynonymous SNV V364I 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 23.7 137299 chr19 52469086 52469086 A C ZNF350 Nonsynonymous SNV V207G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 137300 chr7 150068564 150068564 G A rs201615869 REPIN1 Synonymous SNV R78R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 137301 chr19 52146625 52146625 C T rs371800454 SIGLEC14 Nonsynonymous SNV A392T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.33 137302 chr19 52693376 52693376 G T PPP2R1A Synonymous SNV S9S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 12 137303 chr7 151680130 151680130 A G rs35629905 GALNTL5 Nonsynonymous SNV Y143C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 23.1 137304 chr7 151684246 151684246 G T rs61729494 GALNTL5 Nonsynonymous SNV D180Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 31 137305 chr7 151791365 151791365 C T rs146627996 GALNT11 Nonsynonymous SNV A18V 0.001 0.008 0.01 2 1 3 0.005 3 0 0 0 0 Likely benign 14.66 137306 chr7 154752732 154752732 C G PAXIP1 Nonsynonymous SNV A769P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 137307 chr19 4171123 4171123 T C rs759069976 CREB3L3 Nonsynonymous SNV I308T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.76 137308 chr19 549171 549171 C T rs200398398 GZMM Stop gain Q161X 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 35 137309 chr19 53304909 53304909 T C ZNF28 Nonsynonymous SNV R103G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.165 137310 chr7 158534421 158534421 C A ESYT2 Nonsynonymous SNV G633V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 137311 chr19 55178179 55178179 C T rs149652762 LILRB4 Synonymous SNV D370D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.813 137312 chr19 53454632 53454632 G T rs200268035 ZNF816 Synonymous SNV I132I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.069 137313 chr2 220466152 220466152 T C rs200252129 STK11IP Nonsynonymous SNV L86P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 137314 chr2 220496799 220496801 GAA - rs557843124 SLC4A3 K340del 0.003 0 0.007 0 3 0 0 2 0 0 0 0 137315 chr8 1857602 1857602 G A rs758152013 ARHGEF10 Synonymous SNV P665P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.327 137316 chr6 152265592 152265592 C T rs1007729196 ESR1 Synonymous SNV L349L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 137317 chr19 55711796 55711796 C T rs149421505 PTPRH Nonsynonymous SNV D232N 0.013 0 0.007 2 15 0 0.005 2 0 0 0 0 0.013 137318 chr7 100730666 100730666 C G TRIM56 Nonsynonymous SNV L25V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 137319 chr6 152542013 152542013 G A rs746044264 SYNE1 Synonymous SNV A7204A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.27 137320 chr19 54599114 54599114 G A OSCAR Synonymous SNV P215P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.05 137321 chr8 6669631 6669631 G A rs28432964 XKR5 Synonymous SNV V383V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 4.457 137322 chr6 155571061 155571061 G C TIAM2 Synonymous SNV V228V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.917 137323 chr19 56052665 56052665 A G rs55997334 SBK3 Synonymous SNV C209C 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 0.006 137324 chr19 4446621 4446621 C T rs141014666 UBXN6 Nonsynonymous SNV V213M 0.009 0.013 0.007 1 10 5 0.003 2 0 0 0 0 23.7 137325 chr19 46141782 46141782 G C rs765759936 EML2 Nonsynonymous SNV R32G 0.007 0.005 0 0 8 2 0 0 0 0 0 0 20.4 137326 chr2 233880456 233880456 G T rs530284452 LOC101928881 0 0 0.003 0 0 0 0 1 0 0 0 0 0.724 137327 chr7 117062332 117062332 C T rs140466585 ASZ1 Nonsynonymous SNV R96Q 0.003 0 0.01 0 3 0 0 3 0 0 0 0 23 137328 chr19 55805753 55805753 C T rs779166281 BRSK1 Synonymous SNV F222F 0.002 0 0 0 2 0 0 0 0 0 0 0 18.89 137329 chr19 55526103 55526103 - CAGA rs773724485 GP6 Frameshift insertion P404Sfs*61 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 137330 chr19 55995150 55995150 A G rs150319373 ZNF628 Nonsynonymous SNV T864A 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 10.37 137331 chr8 11679336 11679336 G A rs139354492 FDFT1 Synonymous SNV G212G 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 9.963 137332 chr7 128445898 128445898 G A rs142215231 CCDC136 Synonymous SNV E344E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 137333 chr19 56313004 56313004 G A NLRP11 Nonsynonymous SNV S603F 0.006 0 0 3 7 0 0.008 0 0 0 0 0 23.2 137334 chr7 131128309 131128309 G A rs758508252 MKLN1 Nonsynonymous SNV V208I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 137335 chr19 47878893 47878893 G A rs772294359 DHX34 Synonymous SNV Q745Q 0.007 0.005 0 0 8 2 0 0 0 0 0 0 6.279 137336 chr2 241069329 241069329 T C rs755639567 COPS9 Nonsynonymous SNV E127G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.391 137337 chr8 18079817 18079817 G A rs368205381 NAT1 Synonymous SNV T87T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.096 137338 chr7 137686437 137686437 C T rs749480772 CREB3L2 Synonymous SNV E5E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 137339 chr7 138552843 138552843 G A rs376775987 KIAA1549 Nonsynonymous SNV R1603W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 137340 chr7 138583765 138583765 G A rs375104518 KIAA1549 Synonymous SNV N1261N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.52 137341 chr2 242011067 242011067 G A rs370597255 SNED1 Synonymous SNV P1222P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.989 137342 chr10 120934038 120934038 T C rs759336561 PRDX3 Nonsynonymous SNV N79S 0.005 0 0 0 6 0 0 0 0 0 0 0 21.2 137343 chr19 49216707 49216707 G C MAMSTR Synonymous SNV L187L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.114 137344 chr2 242757494 242757494 G A rs141297986 NEU4 Nonsynonymous SNV R205Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23 137345 chr19 46404554 46404554 G T rs772187766 MYPOP Nonsynonymous SNV R160S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 137346 chr7 141618807 141618807 C A rs781912942 OR9A4 Synonymous SNV I44I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 137347 chr19 57802287 57802287 C T rs28397613 ZNF460 Synonymous SNV H85H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.15 137348 chr19 6415176 6415176 C T rs114436343 KHSRP Synonymous SNV P701P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 14.49 137349 chr2 27306681 27306681 C T rs752386319 EMILIN1 Nonsynonymous SNV R748C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 137350 chr19 581567 581567 C T rs374388470 BSG Nonsynonymous SNV R169W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 137351 chr2 28852019 28852019 G A rs143794008 PLB1 Nonsynonymous SNV G1251D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.057 137352 chr8 28575255 28575255 C T rs200494893 EXTL3 Nonsynonymous SNV A560V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.89 137353 chr19 49000878 49000886 GCGGTGGCG - rs535576382 LMTK3 P1176_P1178del 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 137354 chr19 4511643 4511643 C T PLIN4 Nonsynonymous SNV A777T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 137355 chr7 150164189 150164189 C A rs143212982 GIMAP8 Synonymous SNV R135R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 137356 chr19 7986923 7986923 C A rs536117478 SNAPC2 Nonsynonymous SNV L126I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 137357 chr7 150554987 150554987 G A AOC1 Nonsynonymous SNV A477T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 137358 chr19 58989159 58989161 GAA - rs765716962 ZNF446 K167del 0.002 0 0 0 2 0 0 0 0 0 0 0 137359 chr10 135085444 135085444 G A rs140374625 ADAM8 Synonymous SNV N285N 0.005 0.008 0 8 6 3 0.021 0 0 0 0 0 6.585 137360 chr2 42720026 42720026 G C rs1046814701 KCNG3 Nonsynonymous SNV L206V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 137361 chr19 50045849 50045849 C T rs142187081 RCN3 Nonsynonymous SNV A240V 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24.8 137362 chr19 50249883 50249883 G A rs142807989 TSKS Nonsynonymous SNV S279F 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 12.17 137363 chr8 72111651 72111651 G A rs765493132 EYA1 Nonsynonymous SNV A568V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 137364 chr19 7616287 7616287 C T rs368690743 PNPLA6 Synonymous SNV L742L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 16.66 137365 chr19 7964482 7964482 G A rs45584934 LRRC8E Nonsynonymous SNV V230I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 25.6 137366 chr19 48184440 48184440 G C rs933120401 BICRA Synonymous SNV A671A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.134 137367 chr2 55253014 55253014 C T rs139542847 RTN4 Nonsynonymous SNV D535N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 137368 chr19 9056934 9056934 T C rs776913200 MUC16 Nonsynonymous SNV K10171R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.219 137369 chr7 28858887 28858887 G A rs200938763 CREB5 Synonymous SNV P367P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.233 137370 chr19 51455851 51455851 C T KLK5 Synonymous SNV L21L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.705 137371 chr19 8618245 8618245 C T rs201364078 MYO1F Nonsynonymous SNV E135K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.152 137372 chr8 6500528 6500528 G A rs35614690 MCPH1 Nonsynonymous SNV A870T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.83 137373 chr7 36763722 36763722 G A rs144897559 AOAH Nonsynonymous SNV A11V 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 8.143 137374 chr19 9237263 9237263 G A rs17001893 OR7G3 Stop gain R122X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 137375 chr7 42005647 42005647 C T rs753894499 GLI3 Synonymous SNV P1008P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 7.121 137376 chr2 73450610 73450610 G A rs61755313 SMYD5 Nonsynonymous SNV R278H 0 0 0.007 0 0 0 0 2 0 0 0 0 33 137377 chr19 54969169 54969169 C T rs79561966 LENG8 Synonymous SNV I630I 0.009 0.005 0.01 3 11 2 0.008 3 0 0 0 0 18.84 137378 chr2 74656042 74656042 G A RTKN Synonymous SNV H261H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.522 137379 chr7 44151610 44151610 C G AEBP1 Synonymous SNV P666P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.156 137380 chr19 9069614 9069614 G A rs375728976 MUC16 Synonymous SNV S5944S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.26 137381 chr2 79364457 79364457 G A rs3819316 REG1CP 0 0 0.01 0 0 0 0 3 0 0 0 0 5.054 137382 chr2 79365146 79365146 G A REG1CP 0 0 0.003 0 0 0 0 1 0 0 0 0 5.596 137383 chr2 84932669 84932669 T C DNAH6 Nonsynonymous SNV L2842S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 137384 chr2 85595853 85595853 G A ELMOD3 Nonsynonymous SNV V82M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 137385 chr19 9070264 9070264 A C rs61732905 MUC16 Nonsynonymous SNV S5728A 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 Benign 0.012 137386 chr8 17612504 17612504 G C rs371296182 MTUS1 Synonymous SNV V271V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.985 137387 chr8 125499340 125499340 G T rs746190054 RNF139 Nonsynonymous SNV A484S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 137388 chr19 55785793 55785793 G A rs150486738 HSPBP1 Nonsynonymous SNV R251C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 137389 chr11 1432669 1432669 G A rs377633654 BRSK2 Nonsynonymous SNV R12H 0.007 0 0 0 8 0 0 0 0 0 0 0 8.425 137390 chr19 56005279 56005279 G A rs919613807 SSC5D Nonsynonymous SNV G405S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.5 137391 chr19 55399591 55399591 C T rs775559986 FCAR Synonymous SNV C84C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.31 137392 chr19 9578459 9578459 C T rs16980696 ZNF560 Synonymous SNV P282P 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 8.813 137393 chr8 142146794 142146794 A G rs307771 DENND3 Nonsynonymous SNV K97E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.305 137394 chr8 142154262 142154262 G A rs307762 DENND3 Synonymous SNV L213L 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 2.954 137395 chr8 23150877 23150877 C T rs545985863 R3HCC1 Synonymous SNV L363L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 137396 chr1 112269891 112269891 T C INKA2 Nonsynonymous SNV Q198R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.388 137397 chr7 55468955 55468955 G A rs140738512 LANCL2 Nonsynonymous SNV R256Q 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 137398 chr1 100571380 100571380 C T rs779107653 SASS6 Synonymous SNV P329P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 137399 chr1 114226169 114226169 A T MAGI3 Nonsynonymous SNV I1327F 0.003 0 0 0 3 0 0 0 0 0 0 0 6.679 137400 chr1 114320383 114320383 C A rs754177476 RSBN1 Synonymous SNV R475R 0.003 0 0 0 3 0 0 0 0 0 0 0 15.26 137401 chr1 10683103 10683103 G A rs376462571 PEX14 Nonsynonymous SNV G138S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 137402 chr7 65557849 65557849 G A rs781031440 ASL Nonsynonymous SNV D429N 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 14.46 137403 chr8 29024951 29024951 C T rs371165328 KIF13B Nonsynonymous SNV R366Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 137404 chr19 57175307 57175307 G A rs112794314 ZNF835 Synonymous SNV C420C 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 6.616 137405 chr1 117659283 117659283 C T rs61758105 TRIM45 Nonsynonymous SNV G418E 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 32 137406 chr8 144790250 144790250 G A rs782351972 CCDC166 Synonymous SNV S10S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.751 137407 chr1 110020621 110020621 A G rs62641754 SYPL2 Nonsynonymous SNV N213S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.7 137408 chr8 37727953 37727953 A G rs140616452 RAB11FIP1 Synonymous SNV N572N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.914 137409 chr8 37734661 37734661 A G rs61744439 RAB11FIP1 Synonymous SNV D260D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.006 137410 chr8 144941072 144941072 C T rs782789068 EPPK1 Nonsynonymous SNV G2117D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.97 137411 chr1 112028401 112028401 G T rs369457213 TMIGD3 Nonsynonymous SNV H143N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.74 137412 chr8 41394819 41394819 C T rs182546336 LOC102723729 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 9.564 137413 chr19 56720202 56720202 C T rs538159511 ZSCAN5C Nonsynonymous SNV T375M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.935 137414 chr3 121435874 121435874 A G rs140932474 GOLGB1 Nonsynonymous SNV V253A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 137415 chr7 92099568 92099568 C T rs143305961 ERVW-1 Nonsynonymous SNV R43H 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 2.091 137416 chr19 58563905 58563905 C T rs149279174 ZSCAN1 Synonymous SNV P171P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 7.692 137417 chr3 122351055 122351055 G A rs34383355 PARP15 Nonsynonymous SNV A218T 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 0.072 137418 chr19 5867731 5867731 A - FUT5 L4Wfs*74 0.002 0.003 0 0 2 1 0 0 0 0 0 0 137419 chr3 122419993 122419993 C T rs16833421 PARP14 Synonymous SNV A864A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.42 137420 chr8 145057785 145057785 G C rs377032580 PARP10 Nonsynonymous SNV L670V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.91 137421 chr3 122496628 122496628 A C rs16833517 HSPBAP1 Nonsynonymous SNV S64A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 12.33 137422 chr3 122606425 122606425 - AT LINC02035 0 0 0.007 0 0 0 0 2 0 0 1 0 137423 chr1 114524379 114524379 G A rs149162442 OLFML3 Synonymous SNV E342E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.763 137424 chr8 67364266 67364266 G A rs142276390 ADHFE1 Synonymous SNV A271A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 137425 chr7 99017719 99017719 G A ATP5MF-PTCD1, PTCD1 Synonymous SNV Y658Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.464 137426 chr1 149881384 149881384 C T rs782514088 SV2A Nonsynonymous SNV R383Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 31 137427 chr1 11810207 11810207 T A AGTRAP Nonsynonymous SNV F139L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.1 137428 chr1 150445687 150445687 T C RPRD2 Synonymous SNV F1395F 0.003 0 0 0 4 0 0 0 0 0 0 0 0.743 137429 chr8 145699670 145699670 T C rs138792321 FOXH1 Nonsynonymous SNV D350G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.5 137430 chr8 77619797 77619797 G A rs763801174 ZFHX4 Synonymous SNV P869P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.919 137431 chr3 126138988 126138988 T C rs113527043 CFAP100 Nonsynonymous SNV M333T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 137432 chr1 11848040 11848040 G A C1orf167 Nonsynonymous SNV A1262T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 137433 chr1 151006691 151006691 C T rs138602074 PRUNE1 Nonsynonymous SNV A247V 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 22.9 137434 chr1 11852435 11852435 G T MTHFR Nonsynonymous SNV A552D 0.003 0 0 0 3 0 0 0 0 0 0 0 33 137435 chr1 151413465 151413465 G A rs145999381 POGZ Synonymous SNV S74S 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 12.9 137436 chr8 93929168 93929168 C T TRIQK Nonsynonymous SNV R17K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 137437 chr1 120279766 120279766 C A rs370045696 PHGDH Nonsynonymous SNV D274E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.952 137438 chr1 120379931 120379931 - G rs768412597 NBPF7 Frameshift insertion Q297Pfs*15 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 137439 chr1 12049268 12049270 AAG - MFN2 K16del 0.001 0 0 0 1 0 0 0 0 0 0 0 137440 chr3 128991683 128991683 C G COPG1 Nonsynonymous SNV T731S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 137441 chr1 1275685 1275687 GAA - DVL1 F237del 0.001 0 0 0 1 0 0 0 0 0 0 0 137442 chr9 4583044 4583044 G A rs144334183 SLC1A1 Synonymous SNV T400T 0 0.005 0 1 0 2 0.003 0 0 1 0 0 Conflicting interpretations of pathogenicity 8.093 137443 chr8 101252631 101252631 G T rs758568364 SPAG1 Nonsynonymous SNV V761L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 137444 chr9 5720194 5720194 G C rs143133702 RIC1 Synonymous SNV V151V 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 13.36 137445 chr9 5919736 5919736 A C rs200779041 KIAA2026 Nonsynonymous SNV F2087C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 137446 chr1 146631159 146631159 T C rs782439874 PRKAB2 Synonymous SNV L268L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.437 137447 chr1 153655965 153655965 C T rs142090901 NPR1 Synonymous SNV N459N 0.003 0 0 0 4 0 0 0 0 0 0 0 13.86 137448 chr19 7990334 7990334 C T rs145381924 CTXN1 Synonymous SNV T30T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.8 137449 chr1 147084683 147084683 A G rs145723033 BCL9 Nonsynonymous SNV S19G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.7 137450 chr1 150484919 150484919 G A rs371698490 ECM1 Nonsynonymous SNV R267Q 0.003 0.01 0 0 3 4 0 0 0 0 0 0 23.1 137451 chr1 15438981 15438981 G A rs148420593 KAZN Nonsynonymous SNV V703I 0.004 0 0 0 5 0 0 0 0 0 0 0 0.983 137452 chr8 110457292 110457292 C T rs374511591 PKHD1L1 Nonsynonymous SNV P1732S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 137453 chr1 155774750 155774750 C T rs745813029 GON4L Synonymous SNV V545V 0.003 0 0 0 4 0 0 0 0 0 0 0 15.11 137454 chr19 579501 579501 C T rs41276870 BSG Synonymous SNV A23A 0.004 0.008 0.014 8 5 3 0.021 4 0 0 0 0 7.137 137455 chr19 8841964 8841964 A T rs148162899 OR2Z1 Nonsynonymous SNV T192S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 137456 chr1 151732552 151732552 T C rs141949185 MRPL9 Nonsynonymous SNV M226V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.002 137457 chr3 140407052 140407052 G C rs201125421 TRIM42 Nonsynonymous SNV V510L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 137458 chr1 152326902 152326902 C T rs141939333 FLG2 Synonymous SNV S1120S 0.003 0 0 0 4 0 0 0 0 0 0 0 11.42 137459 chr3 142141496 142141496 G A rs35351308 XRN1 Nonsynonymous SNV H299Y 0.003 0.013 0.01 1 3 5 0.003 3 0 0 0 0 23.1 137460 chr1 152059461 152059461 G T rs74129507 TCHHL1 Nonsynonymous SNV Q233K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.004 137461 chr9 33278213 33278213 C T CHMP5 Nonsynonymous SNV T200I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 137462 chr9 34257908 34257908 G A rs139062260 KIF24 Nonsynonymous SNV S566F 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 20.9 137463 chr1 154245914 154245914 - A HAX1 Frameshift insertion S53Kfs*7 0.003 0.008 0 0 3 3 0 0 0 0 0 0 137464 chr8 133036743 133036743 A G rs11991659 OC90 Synonymous SNV P473P 0.002 0.008 0.014 5 2 3 0.013 4 0 0 0 0 0.127 137465 chr19 5915300 5915300 C A rs147363394 CAPS Nonsynonymous SNV F179L 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 25.6 137466 chr7 100633938 100633938 G A rs113027958 MUC12 Nonsynonymous SNV G32S 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 0.05 137467 chr8 133078133 133078133 T A rs77075526 HHLA1 Nonsynonymous SNV T518S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 18.11 137468 chr8 133092122 133092122 C G rs16904585 HHLA1 Nonsynonymous SNV Q256H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.2 137469 chr7 100648044 100648044 C G rs113022012 MUC12 Nonsynonymous SNV L4734V 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 9.81 137470 chr9 35660895 35660895 A G CCDC107 Nonsynonymous SNV K188R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.803 137471 chr1 153587484 153587484 C T rs774395209 S100A14 Synonymous SNV L64L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.93 137472 chr7 100657248 100657248 C T rs141573081 MUC12 Synonymous SNV I5231I 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 12.62 137473 chr9 35664817 35664817 T C rs538623171 ARHGEF39 Nonsynonymous SNV T57A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 137474 chr1 155257692 155257692 G A rs148893391 HCN3 Nonsynonymous SNV R588Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 10.57 137475 chr7 100681761 100681761 C T rs143165313 MUC17 Nonsynonymous SNV T2355I 0.007 0.008 0.014 2 8 3 0.005 4 0 0 0 0 0.115 137476 chr1 154570328 154570328 T C rs886045341 ADAR Nonsynonymous SNV K342R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 17.88 137477 chr9 36198991 36198991 A G rs781103580 CLTA Nonsynonymous SNV T91A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.54 137478 chr1 155679584 155679584 G A rs61755343 DAP3 Nonsynonymous SNV G5E 0.009 0.003 0.003 2 11 1 0.005 1 0 0 0 0 11.14 137479 chr9 37744390 37744390 C T rs151326689 FRMPD1 Synonymous SNV P787P 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 Benign 13.59 137480 chr1 156562159 156562159 A G rs145909315 NAXE Synonymous SNV A98A 0.003 0 0 0 4 0 0 0 0 0 0 0 17.1 137481 chr9 78911618 78911618 T C rs370026251 PCSK5 Synonymous SNV Y1120Y 0.003 0.01 0.003 3 3 4 0.008 1 0 0 0 0 0.531 137482 chr1 156446855 156446855 G A MEF2D Synonymous SNV P268P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 137483 chr9 79117908 79117908 A G rs766964977 GCNT1 Nonsynonymous SNV Y204C 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23 137484 chr3 172241070 172241070 G A rs41308132 TNFSF10 Synonymous SNV Y35Y 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 5.865 137485 chr8 144642822 144642822 G A rs142072236 GSDMD Nonsynonymous SNV G154R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.75 137486 chr1 156874544 156874544 A G rs74116909 PEAR1 Nonsynonymous SNV T36A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 137487 chr1 156876653 156876653 G A rs372909968 PEAR1 Nonsynonymous SNV A209T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 137488 chr1 156879830 156879830 C T PEAR1 Synonymous SNV R536R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.37 137489 chr1 156883184 156883198 TTCCAGGCCCGCTCT - rs147076416 PEAR1 P839_F843del 0.001 0 0 0 1 0 0 0 0 0 0 0 137490 chr1 156883263 156883263 G T rs56393520 PEAR1 Synonymous SNV L864L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 137491 chr1 162326758 162326758 C A rs749455601 NOS1AP Nonsynonymous SNV H252Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 137492 chr8 144941539 144941539 G A rs367617111 EPPK1 Synonymous SNV N1961N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.896 137493 chr7 129690304 129690304 T C rs879287248 ZC3HC1 Nonsynonymous SNV Y21C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.018 137494 chr3 186944222 186944222 T C rs28945070 MASP1 Nonsynonymous SNV S510G 0.009 0.01 0.01 2 11 4 0.005 3 0 0 0 0 Benign 13.36 137495 chr11 35336678 35336678 A G rs894997341 SLC1A2 Nonsynonymous SNV S68P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 137496 chr1 161042664 161042664 G A rs372926426 NECTIN4 Synonymous SNV P440P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.062 137497 chr1 159277542 159277542 G A rs142312060 FCER1A Synonymous SNV P198P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 4.611 137498 chr11 40137352 40137352 G A LRRC4C Nonsynonymous SNV P164L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 137499 chr3 193272391 193272391 G A rs949939454 ATP13A4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.273 137500 chr1 160064720 160064720 G A IGSF8 Synonymous SNV C127C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.192 137501 chr1 16053527 16053527 A C PLEKHM2 Nonsynonymous SNV K320N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 137502 chr9 104153052 104153052 C T rs150907336 MRPL50 Nonsynonymous SNV R58Q 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 17.18 137503 chr8 145661055 145661055 C G rs200025720 TONSL Nonsynonymous SNV A921P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 137504 chr1 160769596 160769596 G - rs763811636 LY9 G61Vfs*3 0.002 0.003 0 0 2 1 0 0 0 0 0 0 137505 chr1 161059028 161059030 AGC - NECTIN4 L22del 0.001 0 0 0 1 0 0 0 0 0 0 0 137506 chr1 107973508 107973508 T C rs199902525 NTNG1 Synonymous SNV S408S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.395 137507 chr1 165513801 165513801 C T rs114878977 LRRC52 Stop gain R90X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 137508 chr1 16563190 16563190 G T rs142953444 CPLANE2 Nonsynonymous SNV H16Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.89 137509 chr3 197556484 197556484 C T rs371931398 LRCH3 Nonsynonymous SNV A276V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 137510 chr1 167384979 167384979 T C rs34379394 POU2F1 Nonsynonymous SNV S682P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 22.9 137511 chr1 167787315 167787315 G - rs576118131 ADCY10 L1340Sfs*24 0.002 0.005 0 0 2 2 0 0 0 0 0 0 137512 chr9 713252 713252 G A rs201236090 KANK1 Nonsynonymous SNV R671H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 137513 chr1 175331813 175331813 G A rs778676263 TNR Nonsynonymous SNV T614I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 137514 chr1 109801637 109801637 C T CELSR2 Synonymous SNV G1298G 0 0.005 0 0 0 2 0 0 0 0 0 0 12.82 137515 chr3 25900034 25900040 TAGTTTA - rs370760716 LINC00692 0 0 0.003 0 0 0 0 1 0 0 0 0 137516 chr9 2651940 2651940 C T VLDLR Nonsynonymous SNV A732V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 137517 chr1 110128958 110128958 C T rs376480817 GNAI3 Synonymous SNV D237D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.86 137518 chr9 113496567 113496567 A G rs55826142 MUSK Nonsynonymous SNV N222S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 137519 chr3 33156015 33156015 A G rs201564256 CRTAP Nonsynonymous SNV K149R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 13.57 137520 chr9 13196165 13196165 C T rs371939129 MPDZ Synonymous SNV L537L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.885 137521 chr1 167385030 167385030 G A rs774822872 POU2F1 Nonsynonymous SNV A699T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23.4 137522 chr1 12012768 12012768 G T rs142978362 PLOD1 Nonsynonymous SNV K185N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.5 137523 chr1 120166298 120166298 - CCAGGCTGGCGGCGGCAGCGGCCTCAG rs747219814 ZNF697 L222_E223insAEAAAAASL 0.002 0.003 0 2 2 1 0.005 0 0 0 0 1 137524 chr1 172634862 172634862 T C FASLG Synonymous SNV N184N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.665 137525 chr1 112525253 112525253 G A rs767230824 KCND3 Synonymous SNV A32A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.701 137526 chr1 116206400 116206400 A G rs141673853 VANGL1 Nonsynonymous SNV K106R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 0.137 137527 chr7 151135094 151135094 C T CRYGN Synonymous SNV R86R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.12 137528 chr9 35906565 35906565 - CCACACCCCTCACCACCTCCACCACCACCTCCACCACCACCACCACCCCCA HRCT1 H103_H104insLHHHHHPHHTPHHLHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 137529 chr1 118550765 118550765 G A rs139932174 SPAG17 Nonsynonymous SNV R1497C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.8 137530 chr1 151634659 151634659 C T rs191905305 SNX27 Synonymous SNV S273S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.47 137531 chr1 176998801 176998801 C T rs373671369 ASTN1 Synonymous SNV T363T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.02 137532 chr3 45965193 45965193 C T rs140458652 FYCO1 Nonsynonymous SNV R1439H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 137533 chr8 623359 623359 T C ERICH1 Synonymous SNV T331T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 137534 chr1 186332535 186332535 G T TPR Nonsynonymous SNV T157K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.51 137535 chr9 125563326 125563326 C T rs146400132 OR1K1 Stop gain R309X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 137536 chr1 111957094 111957094 C G OVGP1 Nonsynonymous SNV E677Q 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 2.714 137537 chr1 111957158 111957158 T C OVGP1 Synonymous SNV V655V 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 0.308 137538 chr1 179989230 179989230 A G rs141824327 CEP350 Nonsynonymous SNV D774G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.2 137539 chr3 47449859 47449859 G A rs138754006 PTPN23 Synonymous SNV L277L 0.009 0 0.014 1 11 0 0.003 4 0 0 1 0 Conflicting interpretations of pathogenicity 12.46 137540 chr3 47452154 47452165 CAGCCCCATCCT - rs760022693 PTPN23 Q834_P837del 0.009 0 0.014 1 10 0 0.003 4 0 0 1 0 137541 chr9 127620224 127620224 C T rs62636630 RPL35 Synonymous SNV P115P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.51 137542 chr1 146672891 146672891 G A rs149248185 FMO5 Synonymous SNV S342S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 10.21 137543 chr3 4842276 4842276 G A rs201144431 ITPR1 Nonsynonymous SNV A2304T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 137544 chr1 153066031 153066032 TT - SPRR2E K66Vfs*19 0.003 0.003 0 0 4 1 0 0 0 0 0 0 137545 chr1 182025483 182025483 C T rs139123227 ZNF648 Nonsynonymous SNV G555S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.219 137546 chr1 182026013 182026013 G T rs142586855 ZNF648 Stop gain S378X 0.005 0 0 1 6 0 0.003 0 0 0 0 0 41 137547 chr1 153659131 153659131 G A rs61758562 NPR1 Nonsynonymous SNV V590M 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 27.3 137548 chr1 182551393 182551393 C T rs773833513 RNASEL Nonsynonymous SNV D523N 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.6 137549 chr1 150445282 150445282 T A rs201545993 RPRD2 Synonymous SNV G1260G 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 0.949 137550 chr1 150484073 150484073 C T ECM1 Synonymous SNV A310A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.71 137551 chr9 85863101 85863101 G A rs200181003 FRMD3 Nonsynonymous SNV S166L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.1 137552 chr1 151204766 151204766 T C rs148997378 PIP5K1A Synonymous SNV F125F 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.573 137553 chr9 131757653 131757653 C G rs147735262 NUP188 Nonsynonymous SNV R1071G 0 0.003 0 0 0 1 0 0 0 0 0 0 26 137554 chr1 203316988 203316988 G A rs768544358 FMOD Synonymous SNV H137H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.211 137555 chr1 156563851 156563851 C T rs116365278 NAXE Nonsynonymous SNV T281I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 137556 chr1 153735718 153735718 G A INTS3 Nonsynonymous SNV R549K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.3 137557 chr11 59419113 59419113 C T rs199778531 PATL1 Synonymous SNV V476V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.62 137558 chr1 156900320 156900320 G C rs147334331 LRRC71 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 24.2 137559 chr1 205388380 205388380 C T rs376263520 LEMD1 Synonymous SNV A61A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.81 137560 chr3 57232919 57232919 G A rs748972176 HESX1 Synonymous SNV S73S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.718 137561 chr3 62739235 62739235 G A rs1017308312 CADPS Nonsynonymous SNV R257W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 137562 chr1 205052699 205052699 C G rs751091550 TMEM81 Nonsynonymous SNV R250S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.917 137563 chr3 63982128 63982128 A G rs371304147 ATXN7 Nonsynonymous SNV Q732R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 137564 chr3 66434674 66434674 C T rs140903952 LRIG1 Synonymous SNV T604T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 13.5 137565 chr1 155030364 155030364 G A rs114498585 ADAM15 Nonsynonymous SNV G495E 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 27 137566 chr1 20645114 20645114 C T rs201466263 VWA5B1 Synonymous SNV A247A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.32 137567 chr3 78766992 78766992 A G rs181295394 ROBO1 Synonymous SNV S194S 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 7.965 137568 chr9 109688872 109688872 C T rs148630011 ZNF462 Synonymous SNV I893I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.83 137569 chr11 61300526 61300526 G A rs769192468 SYT7 Nonsynonymous SNV R192C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 137570 chr9 111673437 111673437 G A rs139703788 ELP1 Nonsynonymous SNV R56W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 137571 chr1 202702649 202702649 C T rs764597031 KDM5B Synonymous SNV Q1218Q 0.003 0 0 0 3 0 0 0 0 0 0 0 12.56 137572 chr11 62571313 62571313 C T rs139794879 NXF1 Nonsynonymous SNV D56N 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 22.9 137573 chr1 156622525 156622525 C A rs62001922 BCAN Nonsynonymous SNV L595I 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 18.04 137574 chr1 204396784 204396784 G A PIK3C2B Nonsynonymous SNV R1527W 0.003 0 0 0 4 0 0 0 0 0 0 0 26.7 137575 chr1 156830779 156830779 G A rs1007211 NTRK1 Nonsynonymous SNV G18E 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.66 137576 chr9 116053194 116053194 G A rs781155243 PRPF4 Nonsynonymous SNV G424S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 137577 chr9 116191655 116191655 G A rs41276815 C9orf43 Nonsynonymous SNV G459R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.019 137578 chr1 22186350 22186350 G A rs138980184 HSPG2 Synonymous SNV S1721S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 16.51 137579 chr9 116346231 116346231 C T rs139416272 RGS3 Nonsynonymous SNV P168S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.537 137580 chr11 63987064 63987064 C T rs370133642 FERMT3 Synonymous SNV D321D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.22 137581 chr9 139914893 139914893 C T rs56164699 ABCA2 Synonymous SNV T440T 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 16.04 137582 chr1 205810999 205810999 G A rs780400817 PM20D1 Synonymous SNV P328P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.329 137583 chr1 205813995 205813995 T A rs138621536 PM20D1 Nonsynonymous SNV I174F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.87 137584 chr1 16632347 16632347 G A rs760820261 FBXO42 Synonymous SNV S106S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.43 137585 chr1 158725131 158725131 T A rs375436387 OR6K6 Nonsynonymous SNV S176T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.93 137586 chr11 64794993 64794993 C G ARL2-SNX15 0.001 0 0 0 1 0 0 0 0 0 0 0 9.535 137587 chr8 39521361 39521361 G A rs556836747 ADAM18 Synonymous SNV K402K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.12 137588 chr4 108940732 108940732 G T rs1051519 HADH Nonsynonymous SNV Q152H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.52 137589 chr9 124064282 124064282 A G rs770387509 GSN Synonymous SNV A62A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.412 137590 chr8 42612158 42612158 C T rs188620180 CHRNA6 Nonsynonymous SNV R81H 0.004 0 0 3 5 0 0.008 0 0 0 0 0 22.9 137591 chr11 64884663 64884663 C T rs11556920 ZNHIT2 Nonsynonymous SNV E155K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.65 137592 chr8 54142191 54142191 C G OPRK1 Nonsynonymous SNV R270P 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 137593 chr4 113436014 113436014 G C rs146017617 NEUROG2 Nonsynonymous SNV D206E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 137594 chr4 119145678 119145678 T C rs11934022 NDST3 Synonymous SNV Y524Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.203 137595 chr4 119219952 119219952 G A rs34131974 PRSS12 Synonymous SNV H591H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 9.982 137596 chr1 171763662 171763662 C A rs200909388 EEF1AKNMT Nonsynonymous SNV P451H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.91 137597 chr4 119652555 119652555 G T rs79301273 SEC24D Nonsynonymous SNV F929L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 27.3 137598 chr1 228109399 228109399 C T rs141731322 WNT9A Synonymous SNV P306P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 137599 chr1 213134540 213134540 G A rs144856946 VASH2 Synonymous SNV L103L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 137600 chr1 228432047 228432047 G T rs117147433 OBSCN Nonsynonymous SNV A1086S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.54 137601 chr8 67356940 67356940 T - rs567577128 ADHFE1 F104Lfs*7 0.002 0 0 3 2 0 0.008 0 0 0 0 0 137602 chr4 122078300 122078317 TCTCTGCCTGTCGTCCTT - rs145809864 TNIP3 K99_R104del 0.006 0.013 0.014 2 7 5 0.005 4 0 0 0 0 137603 chr9 127791927 127791927 G A SCAI Nonsynonymous SNV H108Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 137604 chr9 127994947 127994947 C T rs200533506 RABEPK Nonsynonymous SNV A199V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 137605 chr4 125591035 125591035 T C ANKRD50 Nonsynonymous SNV I954V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.918 137606 chr4 126337752 126337752 C T rs774880803 FAT4 Synonymous SNV V2331V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 137607 chr9 130279411 130279411 G A rs139508754 NIBAN2 Nonsynonymous SNV R251W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 34 137608 chr1 179304791 179304794 AAGT - rs777659967 SOAT1 K52Gfs*21 0.002 0.005 0 0 2 2 0 0 0 0 0 0 137609 chr11 68506246 68506246 G C rs145548910 TESMIN Nonsynonymous SNV A280G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 137610 chr10 15256575 15256575 G A rs371311375 FAM171A1 Nonsynonymous SNV H338Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 137611 chr1 22846655 22846655 C T rs137897116 ZBTB40 Nonsynonymous SNV P867S 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 21.9 137612 chr8 95264364 95264364 C T rs781236754 GEM Nonsynonymous SNV E166K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.9 137613 chr4 140188008 140188008 G A rs1039032383 MGARP Synonymous SNV T156T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 137614 chr1 233134089 233134089 G A rs750897722 PCNX2 Nonsynonymous SNV P1900L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 137615 chr1 235907381 235907381 G A rs774686470 LYST Synonymous SNV T2683T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.588 137616 chr9 132374704 132374704 C A rs141615044 C9orf50 Nonsynonymous SNV Q406H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 16.85 137617 chr10 21805405 21805405 C A SKIDA1 Nonsynonymous SNV E449D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 137618 chr9 132400503 132400503 G A rs140596279 ASB6 Nonsynonymous SNV R249C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 137619 chr1 229606446 229606446 G A NUP133 Nonsynonymous SNV L653F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 137620 chr10 25313059 25313059 G T rs116200992 THNSL1 Nonsynonymous SNV A303S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.04 137621 chr8 104897996 104897996 G A RIMS2 Nonsynonymous SNV R198Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 137622 chr1 226822525 226822525 G A rs138300662 ITPKB Synonymous SNV I896I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.05 137623 chr1 184764922 184764922 C T rs760951913 NIBAN1 Nonsynonymous SNV R659K 0.003 0.01 0 0 4 4 0 0 0 0 0 0 0.101 137624 chr4 155236899 155236911 CCTGAATCTCTGT - rs780197554 DCHS2 D1750_S1753del 0 0 0.003 0 0 0 0 1 0 0 0 0 137625 chr1 236755831 236755831 T C rs145818478 HEATR1 Synonymous SNV L432L 0.005 0 0 0 6 0 0 0 0 0 0 0 7.572 137626 chr1 228437875 228437875 G A rs770954190 OBSCN Nonsynonymous SNV A1415T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.494 137627 chr4 15720539 15720539 C T rs146288579 BST1 Synonymous SNV C238C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 137628 chr1 193149783 193149783 G A B3GALT2 Nonsynonymous SNV P304S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.8 137629 chr1 179562992 179562992 A G rs768336028 TDRD5 Synonymous SNV G210G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.597 137630 chr1 228559449 228559449 C T rs749636221 OBSCN Synonymous SNV S6990S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.15 137631 chr4 1741437 1741437 G T rs141261775 TACC3 Synonymous SNV A650A 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 0.294 137632 chr9 139324845 139324845 G A rs760729838 INPP5E Synonymous SNV S561S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.24 137633 chr9 139569200 139569202 CTT - rs764787916 AGPAT2 K184del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 137634 chr4 178911822 178911822 T C rs17065494 LINC01098 0 0 0.024 0 0 0 0 7 0 0 0 0 2.729 137635 chr4 184931428 184931428 C G rs61730739 STOX2 Synonymous SNV S479S 0.012 0.016 0.01 1 14 6 0.003 3 0 0 0 0 6.179 137636 chr1 202097466 202097466 G A rs143800455 GPR37L1 Nonsynonymous SNV A410T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 26.4 137637 chr9 139910188 139910188 C T rs771322473 ABCA2 Synonymous SNV T1151T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 137638 chr1 244780921 244780921 A G CATSPERE Nonsynonymous SNV I710V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.623 137639 chr1 245849341 245849341 C T rs750217380 KIF26B Nonsynonymous SNV P1019L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.74 137640 chr10 50255086 50255086 G A rs187843947 VSTM4 Nonsynonymous SNV P260L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 137641 chr9 139925946 139925946 C T rs149025932 FUT7 Nonsynonymous SNV R82Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 137642 chr9 140057381 140057381 G C rs143865216 GRIN1 Synonymous SNV L699L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.189 137643 chr1 19215877 19215877 C T rs145686117 ALDH4A1 Synonymous SNV S16S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.23 137644 chr9 140325742 140325743 AG - rs374881837 NOXA1 E196Dfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 137645 chr10 54031164 54031164 C T rs377519440 PRKG1 Nonsynonymous SNV R395C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.8 137646 chr4 187628184 187628184 C T rs61733570 FAT1 Nonsynonymous SNV R933H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.68 137647 chr1 248366996 248366996 C T rs771018914 OR2M3 Synonymous SNV F209F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.463 137648 chr1 197411408 197411408 C T rs760544654 CRB1 Nonsynonymous SNV R1219C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 35 137649 chr10 70700857 70700857 G A rs768904906 DDX50 Synonymous SNV Q599Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.843 137650 chr1 26527327 26527327 G A rs150836821 CATSPER4 Nonsynonymous SNV A332T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.163 137651 chr1 2488112 2488112 T C rs11573967 TNFRSF14 Synonymous SNV P3P 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 0.247 137652 chr1 27089503 27089503 A G rs773242876 ARID1A Nonsynonymous SNV N820S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 16.86 137653 chr1 26310567 26310567 G A rs139003969 PAFAH2 Nonsynonymous SNV A141V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 137654 chr10 72492011 72492011 G A rs144483860 ADAMTS14 Synonymous SNV G368G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.59 137655 chr11 118130869 118130869 A G MPZL2 Nonsynonymous SNV C162R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 137656 chr1 203472120 203472120 C T rs369547783 OPTC Nonsynonymous SNV R271C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 137657 chr10 73511430 73511430 G A rs139710615 VSIR Nonsynonymous SNV S298F 0.003 0.005 0 5 3 2 0.013 0 0 0 0 1 25.3 137658 chr4 40434705 40434725 GCGGCTGCGGCGGCTGCGGCC - rs564837143 RBM47 A427_A433del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 137659 chr1 31842395 31842395 A G rs762380126 FABP3 Nonsynonymous SNV F39S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 137660 chr10 73558199 73558199 G A rs146819206 CDH23 Synonymous SNV L66L 0.003 0.008 0 4 3 3 0.01 0 0 0 0 1 Conflicting interpretations of pathogenicity 9.779 137661 chr1 32050631 32050631 G A rs552564411 TINAGL1 Nonsynonymous SNV R253H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 137662 chr1 2160421 2160421 C T rs756778048 SKI Synonymous SNV P72P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.54 137663 chr10 75532595 75532595 C T rs150803877 FUT11 Synonymous SNV T168T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.998 137664 chr10 79570974 79570974 G A rs200237878 DLG5 Synonymous SNV A1447A 0.003 0.005 0 5 3 2 0.013 0 0 0 0 1 Benign 10.03 137665 chr10 85970757 85970757 C G CDHR1 Nonsynonymous SNV L441V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.27 137666 chr1 34117991 34117991 C A rs747379869 CSMD2 Synonymous SNV P1506P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 137667 chr1 29601965 29601965 A T rs774180157 PTPRU Nonsynonymous SNV M384L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.67 137668 chr1 35251014 35251025 CCTGCACAAGGA - rs727503069 GJB3 L218_D221del 0.003 0 0 0 4 0 0 0 0 0 0 0 137669 chr1 202569555 202569555 C T rs907699 SYT2 Synonymous SNV T283T 0.002 0 0.014 5 2 0 0.013 4 0 0 0 0 19.22 137670 chr1 203013191 203013191 C G PPFIA4 Nonsynonymous SNV L157V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 137671 chr1 36807563 36807563 C T rs56405327 STK40 Synonymous SNV T372T 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign 8.116 137672 chr1 26607324 26607324 C T rs751937195 SH3BGRL3 Synonymous SNV D39D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.37 137673 chr1 207200881 207200881 G A rs146737077 C1orf116 Synonymous SNV S21S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.24 137674 chr1 207245642 207245642 T A rs377519008 PFKFB2 Nonsynonymous SNV Y482N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 137675 chr1 204082173 204082173 G A rs200817303 SOX13 Nonsynonymous SNV A44T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.06 137676 chr1 3417545 3417545 A G rs41303857 MEGF6 Nonsynonymous SNV F854L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.717 137677 chr9 18928328 18928328 G A rs144757584 SAXO1 Nonsynonymous SNV P318S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.8 137678 chr4 62812735 62812735 T C rs199995073 ADGRL3 Synonymous SNV H755H 0 0 0.017 2 0 0 0.005 5 0 0 1 0 0.468 137679 chr1 35334228 35334228 C T rs144687700 DLGAP3 Synonymous SNV E821E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.99 137680 chr4 6576978 6576978 T C MAN2B2 Nonsynonymous SNV L14P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.3 137681 chr1 205180407 205180407 A T rs146982479 DSTYK Nonsynonymous SNV L86Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.86 137682 chr10 96093965 96093965 A G rs142805936 NOC3L Nonsynonymous SNV F791S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.1 137683 chr9 27212856 27212856 C T rs45505400 TEK Synonymous SNV A798A 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign/Likely benign 20.2 137684 chr11 126124289 126124289 G A rs36120568 FAM118B Synonymous SNV P219P 0.004 0.01 0.01 5 5 4 0.013 3 0 0 0 0 14.08 137685 chr1 228333252 228333252 G A rs140917603 GUK1 Synonymous SNV S34S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.77 137686 chr1 228444508 228444508 G A rs371338993 OBSCN Nonsynonymous SNV R1489H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.055 137687 chr1 32196500 32196500 C T rs779585459 ADGRB2 Synonymous SNV P1394P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 137688 chr4 71024328 71024328 C T PRR27 Nonsynonymous SNV A120V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.361 137689 chr10 98741459 98741459 C T LCOR Synonymous SNV G414G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.853 137690 chr4 72413417 72413417 T C rs138942006 SLC4A4 Nonsynonymous SNV F848L 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 137691 chr1 209797032 209797032 C A rs374547902 LAMB3 Nonsynonymous SNV A726S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 137692 chr1 41289831 41289831 A G rs773975779 KCNQ4 Nonsynonymous SNV E398G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 21 137693 chr4 74124014 74124014 G C rs748463495 ANKRD17 Nonsynonymous SNV D124E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 137694 chr1 22183875 22183875 G A rs139794766 HSPG2 Nonsynonymous SNV A1767V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 137695 chr4 77003034 77003034 T C ART3 Nonsynonymous SNV C43R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 137696 chr1 36556921 36556921 C T rs139465196 ADPRHL2 Synonymous SNV D96D 0.003 0 0 0 3 0 0 0 0 0 0 0 17.35 137697 chr1 233120100 233120100 T C PCNX2 Nonsynonymous SNV M2122V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.8 137698 chr1 38187459 38187459 G A rs34769085 EPHA10 Synonymous SNV L673L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.174 137699 chr4 79236852 79236852 G A rs149843493 FRAS1 Nonsynonymous SNV G595S 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Uncertain significance 0.51 137700 chr1 216850804 216850804 C T rs756510778 ESRRG Nonsynonymous SNV R6Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 137701 chr1 235659612 235659612 A C B3GALNT2 Nonsynonymous SNV V40G 0 0.005 0 0 0 2 0 0 0 0 0 0 1.968 137702 chr1 235973192 235973192 C G rs375332299 LYST Nonsynonymous SNV R309P 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 6.26 137703 chr4 83369151 83369151 G C ENOPH1 Nonsynonymous SNV D55H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 137704 chr10 70700876 70700876 A G DDX50 Nonsynonymous SNV K606E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 137705 chr1 42046485 42046485 C T rs35784470 HIVEP3 Synonymous SNV P1328P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 9.48 137706 chr12 6926395 6926395 C G rs201791740 CD4 Nonsynonymous SNV S173W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.4 137707 chr1 54509159 54509159 G A TMEM59 Synonymous SNV L77L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.09 137708 chr10 111881978 111881978 T C ADD3 Synonymous SNV N357N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.494 137709 chr10 112262561 112262561 G C rs2282238 DUSP5 Nonsynonymous SNV E154D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.13 137710 chr12 7290614 7290614 C T rs781625555 CLSTN3 Nonsynonymous SNV P425L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.3 137711 chr10 112570222 112570222 - GAG rs397516597 RBM20 0 0.003 0 0 0 1 0 0 0 0 0 0 137712 chr10 73056470 73056519 ATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC - rs749904256 UNC5B I810_E819del 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 137713 chr4 88537132 88537132 C T rs767275105 DSPP Synonymous SNV S1106S 0 0 0.017 0 0 0 0 5 0 0 2 0 12.83 137714 chr4 88537135 88537135 T A DSPP Nonsynonymous SNV D1107E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.749 137715 chr4 88537141 88537141 T C rs765088892 DSPP Synonymous SNV S1109S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.05 137716 chr1 44607298 44607298 A G rs186877783 KLF18 Synonymous SNV D2D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.579 137717 chr1 57171814 57171814 G T rs767166675 PRKAA2 Nonsynonymous SNV G448V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 137718 chr1 24463743 24463743 G A rs376646024 IL22RA1 Nonsynonymous SNV S78F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.322 137719 chr12 10279190 10279190 G A rs746604310 CLEC7A Nonsynonymous SNV T107I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 19.59 137720 chr1 55158208 55158208 C T rs2304313 MROH7 Synonymous SNV H459H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.89 137721 chr1 55158224 55158224 T C rs2304312 MROH7 Synonymous SNV L465L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.276 137722 chr10 118313266 118313266 G A rs200040515 PNLIP Nonsynonymous SNV V163M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 137723 chr1 227335140 227335140 T C rs754167552 CDC42BPA Nonsynonymous SNV M272V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 137724 chr1 55518374 55518374 C T rs148195424 PCSK9 Nonsynonymous SNV R237W 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 137725 chr10 121429462 121429462 A T rs145393807 BAG3 Nonsynonymous SNV I94F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 137726 chr12 10999731 10999731 C T rs774193358 PRR4 Nonsynonymous SNV C35Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.349 137727 chr1 23285272 23285272 G A rs759591352 LACTBL1 Synonymous SNV A186A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.533 137728 chr1 4772388 4772388 G T rs550924407 AJAP1 Nonsynonymous SNV R153M 0.003 0 0 0 3 0 0 0 0 0 0 0 14.37 137729 chr5 107559924 107559924 T C rs201524541 FBXL17 Synonymous SNV T504T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.484 137730 chr1 51826886 51826886 G A rs570863189 EPS15 Nonsynonymous SNV T520I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.9 137731 chr10 91143448 91143448 G A rs12262020 IFIT1B Synonymous SNV K126K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.869 137732 chr10 91177439 91177439 G A rs147024608 IFIT5 Synonymous SNV A161A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.726 137733 chr5 115329529 115329529 A G rs145831521 LVRN Nonsynonymous SNV Y451C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 137734 chr10 91470871 91470871 G A rs199753491 KIF20B Nonsynonymous SNV S215N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 137735 chr1 67559041 67559041 T A rs142887352 C1orf141 Nonsynonymous SNV M284L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 137736 chr1 62993904 62993906 ATC - rs751833296 DOCK7 M1253del 0.003 0 0 0 3 0 0 0 0 0 0 0 137737 chr1 70820802 70820802 G A rs17131261 HHLA3 Synonymous SNV K56K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.934 137738 chr5 122515853 122515853 C T rs200261402 PRDM6 Synonymous SNV C503C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 137739 chr1 231362783 231362783 G A rs373942539 C1orf131 Nonsynonymous SNV T180M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 137740 chr1 231830263 231830263 C T rs113312552 DISC1 Synonymous SNV D253D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 137741 chr1 23219431 23219431 G A rs201691912 EPHB2 Nonsynonymous SNV V495M 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 24.3 137742 chr1 233152699 233152699 A G rs775967243 PCNX2 Nonsynonymous SNV W1603R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 137743 chr5 131705558 131705558 G T rs13180186 MIR3936HG 0 0 0.041 0 0 0 0 12 0 0 0 0 Likely benign 8.82 137744 chr5 131705587 131705587 C T rs13180043 MIR3936HG 0 0 0.065 0 0 0 0 19 0 0 1 0 Benign/Likely benign 10.95 137745 chr5 131705588 131705588 G A rs13180295 MIR3936HG 0 0 0.065 0 0 0 0 19 0 0 1 0 Benign/Likely benign 9.864 137746 chr12 25264716 25264718 ATA - rs753386224 CASC1 I419del 0.003 0 0 3 3 0 0.008 0 0 0 0 0 137747 chr1 26161672 26161672 G A rs760614990 AUNIP Nonsynonymous SNV R296W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.5 137748 chr1 84999418 84999418 A G rs200764124 SPATA1 Nonsynonymous SNV D229G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.571 137749 chr10 99332574 99332574 C T rs147018759 ANKRD2 Nonsynonymous SNV A37V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 137750 chr5 132652338 132652338 G A rs757667671 FSTL4 Nonsynonymous SNV T139M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 137751 chr1 7797002 7797002 C T rs771571157 CAMTA1 Nonsynonymous SNV A135V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 137752 chr1 27684750 27684750 G A rs141787524 MAP3K6 Nonsynonymous SNV P938L 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 24.4 137753 chr5 139815809 139815809 C G rs61758138 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV Q143E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 23.8 137754 chr11 403719 403719 G C rs149219722 PKP3 Synonymous SNV L675L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.465 137755 chr1 67358938 67358938 A G rs779243352 WDR78 Synonymous SNV N168N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.644 137756 chr9 124584988 124584988 G A TTLL11 Nonsynonymous SNV R761W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 137757 chr1 89849839 89849839 G A rs200225038 GBP6 Synonymous SNV T422T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 10.73 137758 chr11 460271 460271 G A rs768963135 PTDSS2 Synonymous SNV T89T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.59 137759 chr11 554044 554044 C T rs772558927 LRRC56 Nonsynonymous SNV P466L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.741 137760 chr5 140553193 140553193 C T rs150326812 PCDHB7 Synonymous SNV S259S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.349 137761 chr9 125377900 125377900 G C rs201051499 OR1Q1 Nonsynonymous SNV G295A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 137762 chr11 640187 640187 C G rs200686422 DRD4 Nonsynonymous SNV P313R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.04 137763 chr1 92163682 92163682 C G rs17882828 TGFBR3 Nonsynonymous SNV G764R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.811 137764 chr1 92177952 92177952 T C rs748078614 TGFBR3 Nonsynonymous SNV K671E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 137765 chr5 141336165 141336165 G C PCDH12 Nonsynonymous SNV L418V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 137766 chr5 141336901 141336901 G A rs139026287 PCDH12 Synonymous SNV Y172Y 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.009 137767 chr20 1546802 1546802 C G rs111403092 SIRPB1 X182S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.223 137768 chr20 1551486 1551486 G A rs141972559 SIRPB1 Nonsynonymous SNV A350V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.051 137769 chr20 1552646 1552646 C T rs143678076 SIRPB1 Synonymous SNV V157V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.677 137770 chr20 1552647 1552647 A G rs150138053 SIRPB1 Nonsynonymous SNV V157A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 137771 chr20 1552649 1552649 C T rs77462482 SIRPB1 Synonymous SNV A156A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.8 137772 chr20 1552652 1552652 A G rs149312459 SIRPB1 Synonymous SNV P155P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.022 137773 chr20 1552659 1552659 G A rs150061145 SIRPB1 Nonsynonymous SNV S153L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.216 137774 chr1 27240093 27240093 C T rs143133224 NR0B2 Synonymous SNV P113P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.23 137775 chr20 1592255 1592255 G C rs191373314 SIRPB1 Nonsynonymous SNV P61A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.027 137776 chr5 148977497 148977497 C T rs749934828 ARHGEF37 Synonymous SNV D55D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 137777 chr10 124711499 124711499 C T rs150582565 C10orf88 Nonsynonymous SNV E138K 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 24.6 137778 chr1 43296484 43296484 G A rs909319532 ERMAP Nonsynonymous SNV G44D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 137779 chr5 149313534 149313534 G - PDE6A H226Tfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 137780 chr1 27878150 27878150 T C AHDC1 Synonymous SNV P159P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.298 137781 chr1 43893029 43893029 G T rs201767217 SZT2 Nonsynonymous SNV G1114W 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 Uncertain significance 25.7 137782 chr1 43919285 43919285 T C rs1045157890 HYI Synonymous SNV V60V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.218 137783 chr1 94342207 94342207 C A rs180694931 DNTTIP2 Synonymous SNV T428T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.43 137784 chr20 16506746 16506746 T C rs61754556 KIF16B Synonymous SNV S74S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.207 137785 chr1 44083200 44083200 G T rs148741898 PTPRF Nonsynonymous SNV A1082S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 137786 chr1 45821111 45821111 G A rs371472272 TESK2 Nonsynonymous SNV S52F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 137787 chr1 98187163 98187163 A C rs748320430 DPYD Nonsynonymous SNV V129G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 137788 chr1 987011 987011 C T rs374138541 AGRN Nonsynonymous SNV P1850L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.094 137789 chr1 32713067 32713067 C T rs201866460 FAM167B Synonymous SNV D15D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.89 137790 chr12 53700772 53700772 C T rs202213306 C12orf10 Nonsynonymous SNV R324W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.6 137791 chr20 1277890 1277890 C T rs146181445 SNPH Nonsynonymous SNV T51M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 137792 chr11 1097847 1097847 C T rs201012212 MUC2 Nonsynonymous SNV P2314S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.472 137793 chr10 134996895 134996895 C T rs755649311 KNDC1 Synonymous SNV Y136Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 137794 chr20 19193602 19193602 C G rs545353094 SLC24A3 Nonsynonymous SNV S39W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 137795 chr1 51826853 51826853 T C rs151081025 EPS15 Nonsynonymous SNV N531S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 137796 chr1 51829685 51829685 G C rs148663158 EPS15 Nonsynonymous SNV P424A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.477 137797 chr5 156592603 156592603 C T rs148129467 FAM71B Nonsynonymous SNV A193T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.102 137798 chr1 52704350 52704350 A G rs61753464 ZFYVE9 Nonsynonymous SNV K421E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.31 137799 chr20 23858216 23858216 C T rs149503666 CST5 Nonsynonymous SNV G91S 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 22.9 137800 chr20 23065567 23065567 G A rs747150813 CD93 Synonymous SNV D421D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.137 137801 chr11 281324 281324 G C NLRP6 Synonymous SNV L530L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.492 137802 chr11 290757 290757 C G PGGHG Nonsynonymous SNV P184A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 137803 chr20 17349904 17349904 G A rs146239475 PCSK2 Synonymous SNV P140P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.8 137804 chr9 136915695 136915695 G A rs34609592 BRD3 Nonsynonymous SNV A172V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21 137805 chr1 3764068 3764068 G A rs756354242 CEP104 Nonsynonymous SNV H133Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.47 137806 chr1 38027698 38027698 C T rs140560934 DNALI1 Nonsynonymous SNV T198M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 137807 chr1 34066567 34066567 G A rs114879806 CSMD2 Nonsynonymous SNV R2252W 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 28 137808 chr5 168151462 168151462 G A rs142602636 SLIT3 Synonymous SNV A766A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 137809 chr5 168690635 168690635 C T rs62376935 MIR585 0 0 0.051 0 0 0 0 15 0 0 0 0 5.856 137810 chr11 552666 552666 C - rs1010281761 LRRC56 K428Rfs*72 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 137811 chr20 19937447 19937447 C T rs147968123 RIN2 Nonsynonymous SNV P116L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 33 137812 chr20 20150030 20150030 C T rs150673228 CFAP61 Synonymous SNV F437F 0.003 0 0 0 3 0 0 0 0 0 0 0 12.55 137813 chr9 139313371 139313371 G C PMPCA 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 137814 chr5 176304670 176304670 G A rs115634193 UNC5A Nonsynonymous SNV R534H 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 20.9 137815 chr20 23064912 23064912 T C rs41418351 CD93 Nonsynonymous SNV M640V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 137816 chr5 176637739 176637739 C T rs201327209 NSD1 Nonsynonymous SNV S780L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.117 137817 chr1 39853265 39853265 A G rs140010098 MACF1 Synonymous SNV P2855P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 3.156 137818 chr20 32664872 32664872 G A rs202083385 RALY Nonsynonymous SNV G217S 0.005 0.005 0.014 1 6 2 0.003 4 0 0 0 0 10.16 137819 chr20 32856838 32856838 C T rs36093428 ASIP Synonymous SNV P88P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.29 137820 chr20 36031770 36031770 G A rs781038506 SRC Synonymous SNV G533G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 137821 chr20 33763985 33763985 C T rs146420040 PROCR Nonsynonymous SNV R113C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 137822 chr1 40705404 40705404 G C rs1001395565 RLF Nonsynonymous SNV S1677T 0 0 0 3 0 0 0.008 0 0 0 0 0 5.522 137823 chr20 34302128 34302128 A G RBM39 Synonymous SNV L337L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.96 137824 chr20 34575410 34575410 C G CNBD2 Nonsynonymous SNV I270M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 137825 chr1 62910957 62910957 G C rs145958303 USP1 Nonsynonymous SNV G369A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 10.52 137826 chr9 139973727 139973727 C T rs138914544 UAP1L1 Nonsynonymous SNV P288L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 137827 chr20 3765848 3765850 TCC - rs746270700 CENPB E428del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 137828 chr1 65124409 65124409 C T rs144426256 CACHD1 Synonymous SNV L306L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.01 137829 chr20 30226854 30226854 A T COX4I2 Nonsynonymous SNV R12W 0.002 0 0 0 2 0 0 0 0 0 0 0 19.55 137830 chr1 4715508 4715508 G A rs780797040 AJAP1 Nonsynonymous SNV G8E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 137831 chr9 140150434 140150434 G C NELFB Nonsynonymous SNV E108Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 137832 chr20 30521602 30521602 G C rs183276502 TTLL9 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 137833 chr1 6697285 6697285 C T rs12134083 DNAJC11 Synonymous SNV S499S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 18.19 137834 chr20 42744667 42744667 C A JPH2 Nonsynonymous SNV A550S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.787 137835 chr12 81102311 81102311 T C rs145205388 MYF6 Synonymous SNV G176G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 0.04 137836 chr20 44511288 44511288 C T ZSWIM1 Synonymous SNV D19D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.19 137837 chr20 33342645 33342645 A G rs371988001 NCOA6 Nonsynonymous SNV F519L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 137838 chr20 33859378 33859378 A T rs746161658 MMP24 Nonsynonymous SNV K447M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 137839 chr11 5719675 5719675 C T TRIM22 Nonsynonymous SNV A213V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.204 137840 chr20 52192957 52192957 C G rs41274708 ZNF217 Synonymous SNV A782A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 15.51 137841 chr1 52704740 52704740 T G rs145100186 ZFYVE9 Nonsynonymous SNV C551G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.234 137842 chr10 7844269 7844269 T A rs1046801024 ATP5F1C Nonsynonymous SNV V178E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 137843 chr1 53555495 53555495 G A rs376870782 SLC1A7 Synonymous SNV L374L 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 10.34 137844 chr20 39983283 39983283 A G LPIN3 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 137845 chr20 40733320 40733320 C T rs146046206 PTPRT Synonymous SNV A1143A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.89 137846 chr20 40980745 40980745 G C PTPRT Nonsynonymous SNV R581G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 137847 chr20 50071158 50071158 G A rs146686251 NFATC2 Synonymous SNV G572G 0.003 0 0 0 4 0 0 0 0 0 0 0 13.61 137848 chr1 86961330 86961330 A G rs145164736 CLCA1 Synonymous SNV A695A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.099 137849 chr1 87026017 87026017 A C rs201840590 CLCA4 Nonsynonymous SNV K142Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.12 137850 chr5 5146319 5146319 G A rs199649146 ADAMTS16 Synonymous SNV R84R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.325 137851 chr5 5319185 5319185 C T rs145851675 ADAMTS16 Synonymous SNV H1203H 0.003 0.005 0.017 0 4 2 0 5 0 0 0 0 14.74 137852 chr1 55139461 55139461 C T rs757901645 MROH7 Synonymous SNV L113L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.49 137853 chr12 110352376 110352376 G A rs149921078 TCHP Nonsynonymous SNV E422K 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 137854 chr12 111779640 111779640 G A rs201245757 CUX2 Nonsynonymous SNV A1086T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.397 137855 chr5 5463829 5463829 G T rs768912519 ICE1 Nonsynonymous SNV C1461F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.236 137856 chr20 44531138 44531138 C T rs373242157 PLTP Nonsynonymous SNV V255I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 137857 chr5 56152492 56152492 G A MAP3K1 Nonsynonymous SNV R183Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 137858 chr11 3150344 3150344 G T OSBPL5 Nonsynonymous SNV S12Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 137859 chr20 57430076 57430076 T C GNAS Nonsynonymous SNV S586P 0.003 0 0 0 4 0 0 0 0 0 0 0 8.673 137860 chr11 6977517 6977517 A C ZNF215 Nonsynonymous SNV S199R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.243 137861 chr1 92470784 92470784 A T rs372847272 BRDT Nonsynonymous SNV K855N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.991 137862 chr11 4144578 4144578 G A rs778041880 RRM1 Synonymous SNV L90L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 137863 chr11 7817570 7817570 G C rs145865910 OR5P2 Nonsynonymous SNV S307C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.67 137864 chr20 62193701 62193701 C G rs770566143 HELZ2 Nonsynonymous SNV A1544P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.8 137865 chr11 4842793 4842793 C T rs111849521 OR51F2 Synonymous SNV L48L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.09 137866 chr11 4881665 4881665 T C rs547477498 OR51H1 Nonsynonymous SNV N44D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 137867 chr20 60903473 60903473 G A rs770558556 LAMA5 Synonymous SNV D1492D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.22 137868 chr12 121880448 121880450 CTT - rs544442304 KDM2B K863del 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 137869 chr20 55101019 55101019 A G rs149932128 FAM209A Nonsynonymous SNV M137V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.002 137870 chr11 5021116 5021116 C T rs139272622 OR51L1 Nonsynonymous SNV R302C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 137871 chr11 5199490 5199490 T G rs74051402 OR52Z1 Nonsynonymous SNV R117S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.434 137872 chr1 85116134 85116134 T C rs145146675 SSX2IP Synonymous SNV P500P 0.003 0.005 0.017 1 4 2 0.003 5 0 0 0 0 9.769 137873 chr11 5322697 5322697 G A rs759793130 OR51B4 Synonymous SNV L160L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 137874 chr1 74834715 74834715 A G rs200397497 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV D444G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 137875 chr20 58519501 58519501 C T rs201204053 FAM217B Nonsynonymous SNV T11M 0.003 0 0 0 4 0 0 0 0 0 0 0 12.93 137876 chr11 12270794 12270795 GT - rs146412715 MICAL2 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 137877 chr5 76342241 76342241 G A rs369078770 AGGF1 Nonsynonymous SNV A314T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.121 137878 chr5 76749694 76749694 C T rs35356211 WDR41 Synonymous SNV V157V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.46 137879 chr20 18393318 18393318 G A DZANK1 Synonymous SNV P301P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.304 137880 chr20 60791185 60791185 C T rs2067476 HRH3 Synonymous SNV S405S 0.004 0.005 0.007 5 5 2 0.013 2 0 0 0 0 Benign 13.98 137881 chr20 60888510 60888510 G A rs138708242 LAMA5 Nonsynonymous SNV P2889S 0.003 0.008 0.01 4 3 3 0.01 3 0 0 0 0 Likely benign 0.003 137882 chr20 60894016 60894016 C A rs755925866 LAMA5 Nonsynonymous SNV G2309C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 137883 chr10 47087168 47087168 A G NPY4R, NPY4R2 Nonsynonymous SNV I129V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.776 137884 chr20 62493891 62493891 C T rs549095031 ABHD16B Nonsynonymous SNV P333L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.82 137885 chr1 85397124 85397124 T C MCOLN2 Nonsynonymous SNV Y488C 0 0 0 2 0 0 0.005 0 0 0 0 0 28.8 137886 chr1 86210356 86210356 T C rs774464956 COL24A1 Synonymous SNV V855V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 8.924 137887 chr20 870867 870867 T C rs76996146 ANGPT4 Nonsynonymous SNV M152V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.005 137888 chr20 61453516 61453516 T C COL9A3 Synonymous SNV P159P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.06 137889 chr5 80419482 80419482 C T rs773530333 RASGRF2 Nonsynonymous SNV A831V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.759 137890 chr5 89705846 89705846 C G rs35253605 LOC731157 0 0 0.014 0 0 0 0 4 0 0 0 0 7.893 137891 chr1 94650954 94650954 T C rs754282456 ARHGAP29 Nonsynonymous SNV T558A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 137892 chr1 89575381 89575381 C G rs767478778 GBP2 Nonsynonymous SNV K546N 0 0 0 1 0 0 0.003 0 0 0 0 0 4.717 137893 chr10 55698696 55698696 G A rs995360945 PCDH15 Synonymous SNV N1013N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.597 137894 chr5 90368384 90368384 A G rs137853918 ADGRV1 Synonymous SNV A6091A 0.003 0.01 0.014 4 3 4 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 7.075 137895 chr20 10622246 10622246 G A rs147793030 JAG1 Synonymous SNV F926F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.39 137896 chr21 37603196 37603196 C T rs145155731 DOP1B Nonsynonymous SNV S705F 0.011 0.005 0.01 3 13 2 0.008 3 0 0 0 0 25.3 137897 chr11 31159313 31159313 C G rs201221067 DCDC1 Nonsynonymous SNV E414Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.34 137898 chr11 32636418 32636418 A C rs200537173 CCDC73 Nonsynonymous SNV S482R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 137899 chr5 96503204 96503204 A G rs142914308 RIOK2 Nonsynonymous SNV L455S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 137900 chr10 70406345 70406345 C G TET1 Nonsynonymous SNV Q1287E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.86 137901 chr6 10529873 10529873 C T rs373886978 GCNT2 Synonymous SNV Y243Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 137902 chr11 6648339 6648339 A G rs777487769 DCHS1 Synonymous SNV S1977S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.008 137903 chr6 105614533 105614533 T A rs41285464 BVES-AS1 0 0 0.065 0 0 0 0 19 0 0 1 0 6.46 137904 chr11 34988311 34988311 C T rs147958676 PDHX Nonsynonymous SNV P241S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.582 137905 chr6 10586784 10586784 A G rs151328531 GCNT2 Nonsynonymous SNV I188V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 137906 chr11 35463047 35463047 G C rs113777401 PAMR1 Nonsynonymous SNV Q228E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.59 137907 chr11 35747650 35747650 A G TRIM44 Nonsynonymous SNV Q309R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 137908 chr21 43240506 43240506 G A rs151101894 PRDM15 Synonymous SNV C732C 0.001 0 0 0 1 0 0 0 0 0 0 0 11 137909 chr13 32885691 32885691 C T ZAR1L Synonymous SNV Q124Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.145 137910 chr21 16337067 16337067 G A rs764199535 NRIP1 Synonymous SNV S1149S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.02 137911 chr21 19704447 19704447 T C rs147743156 TMPRSS15 Synonymous SNV T536T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 8.529 137912 chr13 36686248 36686248 G A rs368906217 DCLK1 Nonsynonymous SNV R161W 0.003 0 0 0 4 0 0 0 0 0 0 0 25.7 137913 chr11 46404215 46404215 A G rs749634952 MDK Nonsynonymous SNV K108R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 137914 chr11 46723136 46723136 C T rs144349577 ZNF408 Synonymous SNV D72D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.146 137915 chr13 38237756 38237756 C T rs147170623 TRPC4 Synonymous SNV L322L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.18 137916 chr10 75186082 75186082 C T rs147699725 MSS51 Nonsynonymous SNV D186N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.26 137917 chr11 48149356 48149356 C T rs769386247 PTPRJ Nonsynonymous SNV T373I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.01 137918 chr11 48152072 48152072 A G rs755956573 PTPRJ Synonymous SNV A473A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.065 137919 chr20 21377664 21377664 G A rs536096904 NKX2-4 Nonsynonymous SNV T125M 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 23.7 137920 chr21 32525073 32525073 C T rs117921375 TIAM1 Nonsynonymous SNV V116M 0.003 0 0 0 3 0 0 0 0 0 0 0 28.6 137921 chr6 116951627 116951627 C T rs149268378 RSPH4A Nonsynonymous SNV R610W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 137922 chr21 33887355 33887355 G T rs145086534 EVA1C Nonsynonymous SNV C287F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 0.892 137923 chr20 45355584 45355584 C T rs201393026 SLC2A10 Nonsynonymous SNV A457V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Uncertain significance 24.7 137924 chr10 86273998 86273998 G A rs746353548 CCSER2 Nonsynonymous SNV R467H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.15 137925 chr20 2384320 2384320 A G rs751634905 TGM6 Nonsynonymous SNV N396S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 137926 chr10 94393483 94393483 G A rs116840343 KIF11 Synonymous SNV Q602Q 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Benign 1.97 137927 chr10 94413508 94413508 G C rs34417963 KIF11 Nonsynonymous SNV L1042F 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 Benign 1.332 137928 chr20 2686331 2686331 C T rs754374162 EBF4 Synonymous SNV P78P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.22 137929 chr21 41160099 41160099 C A rs139012406 IGSF5 Nonsynonymous SNV R314S 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 9.335 137930 chr6 133846228 133846228 G A rs143208937 EYA4 Nonsynonymous SNV R551Q 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.95 137931 chr20 55047447 55047447 G A rs41274726 RTF2 Synonymous SNV G45G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 2.666 137932 chr20 23017082 23017082 T A rs2567608 SSTR4 Nonsynonymous SNV F321Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.53 137933 chr6 137519394 137519394 T G rs775862895 IFNGR1 Nonsynonymous SNV D415A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 137934 chr20 23334996 23334996 A G rs747973657 NXT1 Synonymous SNV Q106Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.589 137935 chr11 55340387 55340387 G A rs141913559 OR4C16 Nonsynonymous SNV V262I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.58 137936 chr21 44182247 44182247 G A rs139295419 PDE9A Synonymous SNV P163P 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 10.75 137937 chr10 99228051 99228051 A G rs142314848 MMS19 Synonymous SNV N349N 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 0.024 137938 chr6 146126078 146126078 T G FBXO30 Synonymous SNV P488P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.191 137939 chr10 99258090 99258090 C T MMS19 Nonsynonymous SNV G18S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 9.175 137940 chr22 18021626 18021626 T C rs761521367 CECR2 Synonymous SNV P498P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.028 137941 chr20 30661574 30661574 C G HCK Nonsynonymous SNV H73Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.197 137942 chr11 40137835 40137835 T G rs144974170 LRRC4C Nonsynonymous SNV N3T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.6 137943 chr21 46233868 46233868 T C rs147549284 SUMO3 Nonsynonymous SNV Q58R 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 0.149 137944 chr22 20796458 20796458 G A rs200128571 KLHL22 Nonsynonymous SNV R603C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.6 137945 chr20 37272381 37272381 G A rs6070872 ARHGAP40 Nonsynonymous SNV R465Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.5 137946 chr22 21351039 21351039 G A rs144870586 LZTR1 Synonymous SNV A758A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 12.36 137947 chr21 46925298 46925306 CCCCCTGGG - rs571597296 COL18A1 P1197_G1199del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 137948 chr6 154412516 154412516 C T rs79216711 OPRM1 Nonsynonymous SNV S258F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.78 137949 chr20 3844992 3844992 C T rs144682531 MAVS Nonsynonymous SNV R98C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 137950 chr20 39792051 39792051 G C rs771800320 PLCG1 Nonsynonymous SNV E275Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 137951 chr6 157100553 157100553 G A rs764716697 ARID1B Nonsynonymous SNV S497N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.029 137952 chr11 47433908 47433908 C T rs752159748 SLC39A13 Stop gain Q143X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 137953 chr6 159026327 159026327 G A rs200307986 TMEM181 Nonsynonymous SNV R311Q 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.54 137954 chr11 47611845 47611845 G C C1QTNF4 Nonsynonymous SNV P173R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.558 137955 chr22 24236870 24236870 C T rs918474617 MIF-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 10.34 137956 chr10 105768048 105768048 C T rs150068060 SLK Synonymous SNV R906R 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.64 137957 chr22 24456497 24456497 C G rs769744330 CABIN1 Nonsynonymous SNV P454A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 137958 chr22 24836712 24836712 C T ADORA2A Nonsynonymous SNV A165V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.95 137959 chr20 44520007 44520007 G C rs770340993 CTSA Nonsynonymous SNV G15R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.098 137960 chr20 44577658 44577658 G A rs114581171 ZNF335 Synonymous SNV P1321P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.46 137961 chr6 160496968 160496968 G A rs775387243 IGF2R Synonymous SNV A1752A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 137962 chr22 29927836 29927836 C T rs71329494 THOC5 Synonymous SNV A277A 0.005 0.005 0.014 1 6 2 0.003 4 0 0 0 0 15.37 137963 chr22 30682068 30682068 G T CASTOR1 Nonsynonymous SNV L255M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.8 137964 chr20 46256365 46256365 G A rs773838233 NCOA3 Nonsynonymous SNV R198H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 137965 chr22 19121897 19121897 G A rs377464869 ESS2 Nonsynonymous SNV R415W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 137966 chr6 166353868 166353868 A G rs866275303 LINC00473 0 0 0.007 0 0 0 0 2 0 0 0 0 0.972 137967 chr20 746410 746410 G A rs139486822 SLC52A3 Synonymous SNV F3F 0.004 0.01 0.014 0 5 4 0 4 0 0 0 0 Benign/Likely benign 12.01 137968 chr20 43836989 43836989 T C rs368069437 SEMG1 Nonsynonymous SNV S351P 0 0.005 0 2 0 2 0.005 0 0 0 0 0 13.07 137969 chr22 31946286 31946286 C T rs761081209 SFI1 Nonsynonymous SNV R84C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 137970 chr11 57070056 57070056 G C rs373603637 TNKS1BP1 Nonsynonymous SNV D1520E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 137971 chr6 170871046 170871046 - CAGCAGCAG TBP Q75_A76insQQQ 0.007 0.003 0.003 1 8 1 0.003 1 1 0 0 0 137972 chr20 45003211 45003211 C T rs8124302 ELMO2 Synonymous SNV L378L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 14.94 137973 chr6 21231222 21231222 G A rs34084405 CDKAL1 Synonymous SNV L564L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.211 137974 chr11 55681345 55681345 G T rs762086911 OR5W2 Synonymous SNV L238L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.04 137975 chr11 55681644 55681644 T - rs777160441 OR5W2 R139Efs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 137976 chr22 37462173 37462173 C T rs139105452 TMPRSS6 Nonsynonymous SNV V786I 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign/Likely benign 28.1 137977 chr22 37492075 37492075 G A rs368109682 TMPRSS6 Nonsynonymous SNV R154W 0.004 0 0 0 5 0 0 0 0 0 0 0 25.7 137978 chr20 5974238 5974238 C T rs200761922 MCM8 Nonsynonymous SNV A729V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 137979 chr22 37893046 37893046 C T rs774099152 CARD10 Nonsynonymous SNV A643T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 137980 chr6 25850102 25850102 G A rs189010994 SLC17A3 Nonsynonymous SNV T323M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.844 137981 chr22 40814839 40814839 C T rs751069863 MRTFA Nonsynonymous SNV E535K 0.001 0 0 0 1 0 0 0 0 0 0 0 30 137982 chr20 50313993 50313993 G T rs139983147 ATP9A Synonymous SNV I155I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.1 137983 chr20 52199154 52199154 C G ZNF217 Nonsynonymous SNV S71T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.42 137984 chr22 28379604 28379604 G C TTC28 Synonymous SNV P2017P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.328 137985 chr10 134145045 134145045 T C rs114666623 STK32C Nonsynonymous SNV N66D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 11.46 137986 chr6 33382288 33382288 G A rs3116713 PHF1 Nonsynonymous SNV R304K 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 11.2 137987 chr6 33630783 33630783 G A rs778240357 ITPR3 Synonymous SNV E318E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 137988 chr10 135012583 135012583 C A rs111276772 KNDC1 Nonsynonymous SNV D857E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.019 137989 chr11 62760991 62760991 G A rs200524172 SLC22A8 Synonymous SNV Y355Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.563 137990 chr6 35911914 35911914 G A SLC26A8 Synonymous SNV T787T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.923 137991 chr22 45218302 45218302 C T rs142047597 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV H146H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 8.579 137992 chr22 35743090 35743090 G A rs117763819 TOM1 Nonsynonymous SNV R411Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.5 137993 chr21 44283703 44283703 G A rs61729418 WDR4 Synonymous SNV T100T 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign 6.002 137994 chr21 44323668 44323668 - G rs756066564 NDUFV3 Frameshift insertion L185Afs*11 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 137995 chr21 44338723 44338723 G C rs116336164 ERVH48-1 Nonsynonymous SNV Q132E 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 2.619 137996 chr20 62863601 62863601 C T rs142974950 MYT1 Synonymous SNV A920A 0.002 0.013 0 4 2 5 0.01 0 0 0 0 0 Benign 19.15 137997 chr6 4070079 4070079 G A rs17853927 FAM217A Synonymous SNV H126H 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 0.02 137998 chr22 46787544 46787544 G A rs12169391 CELSR1 Nonsynonymous SNV T2045M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 8.725 137999 chr11 64521154 64521154 G C rs11231866 PYGM Nonsynonymous SNV R326G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 17.16 138000 chr11 64559402 64559402 G A rs201927418 MAP4K2 Nonsynonymous SNV P683S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.113 138001 chr22 38121782 38121782 G A rs374759271 TRIOBP Synonymous SNV A1073A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.523 138002 chr21 45708278 45708278 G A rs148012328 AIRE Nonsynonymous SNV G197R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25 138003 chr6 42236514 42236514 G A rs145029506 TRERF1 Nonsynonymous SNV P272L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 138004 chr22 50469352 50469352 C A rs571616944 TTLL8 Synonymous SNV P586P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.575 138005 chr6 42585020 42585020 G A UBR2 Nonsynonymous SNV E409K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 138006 chr22 50356486 50356486 C T rs775149141 PIM3 Synonymous SNV L256L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.588 138007 chr21 45744381 45744381 A G PFKL Nonsynonymous SNV D553G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.7 138008 chr22 50470252 50470252 C T rs764974961 TTLL8 Nonsynonymous SNV E540K 0.002 0 0 0 2 0 0 0 0 0 0 0 33 138009 chr21 28214874 28214874 C G rs201220753 ADAMTS1 Synonymous SNV S287S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 15.8 138010 chr11 57479507 57479507 C A rs199862897 MED19 Nonsynonymous SNV A66S 0.005 0 0.003 0 6 0 0 1 0 0 0 0 5.439 138011 chr20 62203656 62203656 C T rs368604390 HELZ2 Nonsynonymous SNV R28H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.617 138012 chr6 43540309 43540309 C G XPO5 Synonymous SNV R78R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 138013 chr6 43639615 43639615 C T rs765576548 MRPS18A Nonsynonymous SNV V159I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 138014 chr22 43036008 43036008 C T ATP5MGL Synonymous SNV E91E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.545 138015 chr2 100029399 100029399 T C rs3087394 REV1 Nonsynonymous SNV M655V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.8 138016 chr22 43447834 43447834 G A rs752864757 TTLL1 Synonymous SNV D317D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.54 138017 chr6 47682206 47682206 C T rs201647818 ADGRF4 Nonsynonymous SNV L409F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 138018 chr11 1017591 1017591 C T rs200995870 MUC6 Nonsynonymous SNV R1737Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.007 138019 chr11 61018744 61018744 T C rs601275 PGA5 Synonymous SNV P386P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.052 138020 chr2 109411123 109411123 A G rs375637819 CCDC138 Synonymous SNV P169P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.144 138021 chr2 105956206 105956215 GGTACTTTTT - rs746323773 C2orf49 S90Vfs*4 0.002 0.003 0 0 2 1 0 0 0 0 0 0 138022 chr21 33044423 33044423 C T rs765206355 SCAF4 Synonymous SNV P896P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.188 138023 chr21 33340647 33340647 T G rs61743707 HUNK Synonymous SNV L320L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.913 138024 chr6 54806625 54806625 C T rs9464166 FAM83B Synonymous SNV N952N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.928 138025 chr21 33829958 33829958 C T rs755556540 EVA1C Synonymous SNV S137S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 14.33 138026 chr21 42817457 42817457 T C rs376894745 MX1 Nonsynonymous SNV I364T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.296 138027 chr6 56479215 56479215 T A rs183804748 DST Nonsynonymous SNV N1129I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.35 138028 chr2 113591031 113591031 A G IL1B Nonsynonymous SNV L74P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 138029 chr22 50553033 50553033 A G rs200879347 MOV10L1 Nonsynonymous SNV N370D 0.004 0 0 0 5 0 0 0 0 0 0 0 2.832 138030 chr21 34715701 34715701 T C rs200831107 IFNAR1 Synonymous SNV V168V 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 5.632 138031 chr21 43259731 43259731 C G PRDM15 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 138032 chr2 112765986 112765986 G A rs376129675 MERTK Nonsynonymous SNV E632K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 35 138033 chr2 112944754 112944754 C T rs201195702 FBLN7 Nonsynonymous SNV R285C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 138034 chr14 77493765 77493794 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGT - rs775463765 IRF2BPL Q118_Q127del 0.001 0 0 0 1 0 0 0 0 0 0 0 138035 chr22 50666407 50666407 G A TUBGCP6 Synonymous SNV V447V 0.004 0 0 0 5 0 0 0 0 0 0 0 8.967 138036 chr2 11809740 11809740 G A rs905011365 NTSR2 Synonymous SNV V172V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.476 138037 chr21 37617514 37617514 C A rs144551122 DOP1B Nonsynonymous SNV P1079Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.007 138038 chr6 74063589 74063589 C T rs141223599 DPPA5 Synonymous SNV Q93Q 0.003 0 0.01 0 4 0 0 3 0 0 0 0 5.329 138039 chr11 64116842 64116842 G T rs145110055 CCDC88B Nonsynonymous SNV D886Y 0.003 0 0.003 1 4 0 0.003 1 1 0 0 0 20.2 138040 chr6 74496984 74496984 A G rs45572237 CD109 Nonsynonymous SNV K712E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.011 138041 chr11 64435139 64435139 A G rs144522211 NRXN2 Nonsynonymous SNV F430L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.27 138042 chr22 24560439 24560439 C T rs147606580 CABIN1 Synonymous SNV I1556I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.02 138043 chr11 64612023 64612023 C T rs997934028 CDC42BPG Nonsynonymous SNV A7T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 138044 chr11 64820766 64820766 G A rs139662895 NAALADL1 Synonymous SNV H374H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 138045 chr21 45947285 45947285 G T rs143814541 TSPEAR Nonsynonymous SNV R347S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21.9 138046 chr6 86387032 86387033 AA - rs143503129 SNORD50A 0 0 0.078 0 0 0 0 23 0 0 1 0 138047 chr11 65391100 65391100 G A rs61741575 PCNX3 Synonymous SNV Q832Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.324 138048 chr11 65397040 65397040 T A rs745409807 PCNX3 Synonymous SNV R1350R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.452 138049 chr2 136561692 136561692 T C LCT Nonsynonymous SNV I1491V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.51 138050 chr6 90572770 90572770 T A rs372268202 CASP8AP2 Nonsynonymous SNV S448T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.648 138051 chr14 95669334 95669334 C T rs12147696 CLMN Synonymous SNV S784S 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 Benign 12.28 138052 chr7 100210601 100210601 A G rs143182268 MOSPD3 Nonsynonymous SNV T63A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 16.6 138053 chr11 94261254 94261254 C T rs767310868 C11orf97 Synonymous SNV A85A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.94 138054 chr11 66204735 66204735 C A rs199701773 MRPL11 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 138055 chr11 66333624 66333624 T C rs201753663 CTSF Nonsynonymous SNV T246A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.194 138056 chr7 100490131 100490131 G A rs113533105 ACHE Synonymous SNV Y459Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.176 138057 chr21 45675981 45675981 C A rs148594562 DNMT3L Synonymous SNV R191R 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 8.303 138058 chr2 152322122 152322122 A G rs200973717 RIF1 Nonsynonymous SNV M2030V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.403 138059 chr22 19028580 19028580 C A rs139943214 DGCR2 Nonsynonymous SNV D422Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.7 138060 chr21 45928666 45928666 A G rs115508861 TSPEAR-AS1 0.005 0 0 1 6 0 0.003 0 0 0 0 0 1.638 138061 chr21 45978079 45978079 T C rs200455309 KRTAP10-3 Nonsynonymous SNV I174V 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 0.001 138062 chr2 113993064 113993064 G A rs371246550 PAX8 Synonymous SNV L332L 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 9.39 138063 chr22 19178936 19178936 G A rs369046147 CLTCL1 Synonymous SNV V1401V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.6 138064 chr11 101818803 101818803 C G rs142141239 CEP126 Nonsynonymous SNV Q146E 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign 25.8 138065 chr11 67800381 67800381 T A rs772472011 MIR7113 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 138066 chr2 153575305 153575305 G T rs116506483 ARL6IP6 Nonsynonymous SNV R56L 0.003 0.005 0.017 0 3 2 0 5 0 0 0 0 Benign 33 138067 chr11 68821550 68821550 C T rs11604928 TPCN2 Synonymous SNV I53I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13 138068 chr22 20760037 20760037 G T ZNF74 Nonsynonymous SNV Q167H 0 0.008 0 1 0 3 0.003 0 0 0 0 0 0.002 138069 chr11 68840155 68840155 C T rs149047003 TPCN2 Synonymous SNV S374S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 138070 chr2 160585570 160585570 T A MARCHF7 Nonsynonymous SNV S13T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 138071 chr22 21385322 21385322 C A SLC7A4 Nonsynonymous SNV E260D 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 24.9 138072 chr2 160604950 160604950 A G rs777837904 MARCHF7 Synonymous SNV G327G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.19 138073 chr11 104820370 104820370 A G rs150393983 CASP4 Synonymous SNV D227D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.1 138074 chr11 71715005 71715005 C T rs150300331 NUMA1 Synonymous SNV P2074P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 138075 chr11 73106172 73106172 A G rs151088654 RELT Nonsynonymous SNV M363V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 138076 chr11 110451171 110451171 T C rs746533394 ARHGAP20 Synonymous SNV A810A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.182 138077 chr2 160964330 160964330 T C ITGB6 Nonsynonymous SNV M615V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 6.945 138078 chr2 163228433 163228433 A G rs766264346 KCNH7 Nonsynonymous SNV I1166T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.71 138079 chr2 167089906 167089906 G A rs763423536 SCN9A Nonsynonymous SNV R1290W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 138080 chr11 75150971 75150971 G A rs115438239 GDPD5 Synonymous SNV A365A 0.005 0 0.01 0 6 0 0 3 0 0 0 0 16.18 138081 chr2 169038539 169038539 T C rs780462861 STK39 Synonymous SNV A90A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.411 138082 chr22 39024338 39024338 C A FAM227A Stop gain E211X 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 39 138083 chr22 26118408 26118408 C T rs150745100 GRK3 Synonymous SNV N573N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 14.91 138084 chr2 170042267 170042267 G T LRP2 Synonymous SNV I3197I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 138085 chr11 117261911 117261911 C G rs371621918 CEP164 Nonsynonymous SNV L758V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 138086 chr22 28193715 28193715 G A rs200253358 MN1 Synonymous SNV G939G 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 10.21 138087 chr22 29130450 29130464 TCCTCAGGTTCTTGG - rs587780181 CHEK2 D82_E86del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 138088 chr2 176829138 176829138 G A LNPK Nonsynonymous SNV P29L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 138089 chr22 29736816 29736816 G C rs139231493 AP1B1 Synonymous SNV A609A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.932 138090 chr11 87882913 87882913 T G rs755523753 RAB38 Nonsynonymous SNV N138T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 138091 chr22 30642649 30642649 G - LOC91370 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 138092 chr2 179434303 179434303 A G rs376185524 TTN Nonsynonymous SNV I16454T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.7 138093 chr2 179457171 179457171 A G TTN Nonsynonymous SNV I10789T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 138094 chr11 93432496 93432496 T C CEP295 Nonsynonymous SNV I1473T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 138095 chr11 119535540 119535540 C T rs374643713 NECTIN1 Nonsynonymous SNV D491N 0 0.01 0 0 0 4 0 0 0 0 0 0 Uncertain significance 25.6 138096 chr11 119535843 119535843 T C NECTIN1 Nonsynonymous SNV S390G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.48 138097 chr2 179397368 179397368 G A rs199714102 TTN Synonymous SNV I25593I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.57 138098 chr7 120740109 120740109 A G rs113695658 CPED1 Synonymous SNV T293T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.401 138099 chr11 101834306 101834306 A G rs539603536 CEP126 Nonsynonymous SNV E847G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 138100 chr7 123269427 123269427 G A rs1026801680 ASB15 Stop gain W460X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 138101 chr7 123508758 123508758 T C rs747022640 HYAL4 Nonsynonymous SNV I144T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 138102 chr22 37688682 37688682 G A rs201471657 CYTH4 Nonsynonymous SNV G14R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.69 138103 chr2 191334571 191334571 A G rs775721584 MFSD6 Synonymous SNV E540E 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.034 138104 chr22 38482255 38482255 G A rs114826618 BAIAP2L2 Synonymous SNV D487D 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 4.319 138105 chr22 38528958 38528958 C T rs11570679 PLA2G6 Synonymous SNV T93T 0.005 0.005 0.014 1 6 2 0.003 4 0 0 1 0 Benign 10.97 138106 chr15 45412435 45412435 G A rs149960164 DUOXA1 Nonsynonymous SNV T168M 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 29.6 138107 chr22 38621456 38621456 G A rs16998818 TMEM184B Synonymous SNV S254S 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 14.02 138108 chr22 38897147 38897147 T C rs748565721 DDX17 Synonymous SNV A142A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.571 138109 chr22 39148537 39148537 T C rs2072799 SUN2 Nonsynonymous SNV T33A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.934 138110 chr2 179438727 179438727 A G rs56169243 TTN Synonymous SNV G14979G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.33 138111 chr22 41620152 41620152 C T rs144102114 L3MBTL2 Synonymous SNV Y357Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.91 138112 chr7 137150665 137150665 T C rs35245703 DGKI Synonymous SNV E867E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.312 138113 chr22 43015928 43015928 C T rs144071404 CYB5R3 Nonsynonymous SNV V253M 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 33 138114 chr2 179574539 179574539 C T rs202160275 TTN Nonsynonymous SNV V8259I 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 138115 chr2 102031340 102031340 C G rs530834394 RFX8 Nonsynonymous SNV K179N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 138116 chr22 37708092 37708092 G A CYTH4 Nonsynonymous SNV R273Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.1 138117 chr11 129795007 129795007 G A rs896327755 PRDM10 Nonsynonymous SNV R464W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 138118 chr7 14017104 14017104 A T rs139688999 ETV1 Synonymous SNV A21A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.1 138119 chr22 43606181 43606181 C T rs144373347 SCUBE1 Nonsynonymous SNV D817N 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 23.9 138120 chr7 141464063 141464063 G A rs138466830 TAS2R3 Stop gain W35X 0 0 0.007 0 0 0 0 2 0 0 0 0 36 138121 chr11 118183440 118183440 G C rs148647954 CD3E Nonsynonymous SNV D71H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.229 138122 chr22 39814746 39814746 G A rs140879164 TAB1 Nonsynonymous SNV R187H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 138123 chr12 670611 670611 G A rs191163323 B4GALNT3 Synonymous SNV T997T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.46 138124 chr11 118978785 118978785 G A rs140064567 C2CD2L Nonsynonymous SNV E112K 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 28.6 138125 chr7 142605943 142605943 G A rs557867585 TRPV5 Stop gain R643X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 138126 chr2 109102194 109102194 T C GCC2 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.7 138127 chr22 45719242 45719242 G T rs146871957 FAM118A Synonymous SNV R78R 0.003 0.01 0.007 5 3 4 0.013 2 0 0 0 0 5.908 138128 chr12 994573 994575 AGC - rs72650732 WNK1 S1289del 0 0.003 0 0 0 1 0 0 0 0 0 0 138129 chr22 41605909 41605909 C T rs150087974 L3MBTL2 Synonymous SNV R78R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.77 138130 chr11 119227996 119227996 T A rs149898423 USP2 Nonsynonymous SNV Y301F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 138131 chr12 2968791 2968791 A T FOXM1 Synonymous SNV S420S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.596 138132 chr11 18729525 18729525 C A rs191927164 IGSF22 Nonsynonymous SNV V1036L 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 24 138133 chr2 113286318 113286318 A G rs746798177 TTL Synonymous SNV P360P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.75 138134 chr11 121032819 121032819 C T rs142948530 TECTA Nonsynonymous SNV S1671L 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 138135 chr7 148910874 148910874 T C ZNF282 Nonsynonymous SNV M383T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.251 138136 chr7 148985575 148985575 C T rs149045003 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 5.278 138137 chr22 43568541 43568541 T G TTLL12 Nonsynonymous SNV E454A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 138138 chr2 202494050 202494050 G A TMEM237 Nonsynonymous SNV L258F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.51 138139 chr7 1498912 1498912 G A MICALL2 Synonymous SNV G17G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 138140 chr11 123894256 123894256 T C rs2924497 OR10G9 Synonymous SNV D179D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 138141 chr2 21233517 21233517 C T rs377429190 APOB Nonsynonymous SNV E2075K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.045 138142 chr2 118586874 118586874 T C rs34379569 DDX18 Synonymous SNV L568L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 7.936 138143 chr2 215274963 215274963 A G rs200480778 SPAG16 Nonsynonymous SNV H607R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.5 138144 chr2 215274965 215274970 ACGGTT - rs760256710 SPAG16 T608_V609del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 138145 chr12 6672587 6672587 C T rs200105333 NOP2 Nonsynonymous SNV R257Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 138146 chr7 150767377 150767377 G A rs753675037 SLC4A2 Nonsynonymous SNV V456I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 138147 chr12 6936084 6936084 C T rs148572255 GPR162 Synonymous SNV P210P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.66 138148 chr2 197637693 197637693 A C GTF3C3 Synonymous SNV G672G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.746 138149 chr12 7045892 7045909 CAGCAGCAGCAGCAGCAG - rs879947326 ATN1 Q497_Q502del 0.009 0.021 0.003 1 10 8 0.003 1 0 0 0 0 138150 chr2 207632128 207632128 C T rs150195745 FASTKD2 Synonymous SNV H237H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.695 138151 chr12 7261040 7261040 C T rs150463201 C1RL Nonsynonymous SNV C36Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.21 138152 chr7 151884482 151884482 C T KMT2C Nonsynonymous SNV E1625K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 138153 chr11 124972114 124972114 G A rs7114520 TMEM218 Synonymous SNV V8V 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 8.951 138154 chr11 124972542 124972542 G A rs61450147 TMEM218 Nonsynonymous SNV P7L 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 4.98 138155 chr15 67814055 67814055 C T rs547735233 IQCH-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.638 138156 chr11 124972553 124972553 C T rs56295968 TMEM218 Stop gain W3X 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 5.182 138157 chr2 209045983 209045983 G A rs201967609 C2orf80 Stop gain R85X 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 36 138158 chr15 69339786 69339786 C T rs370856638 NOX5 Nonsynonymous SNV R548C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 138159 chr7 158468330 158468330 A G rs61752309 NCAPG2 Nonsynonymous SNV Y389H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.66 138160 chr2 102501710 102501710 G A rs373732843 MAP4K4 Synonymous SNV A1049A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.34 138161 chr2 135745521 135745521 G A rs149781960 MAP3K19 Synonymous SNV N194N 0.01 0.016 0.007 4 12 6 0.01 2 0 0 0 0 1.046 138162 chr22 50304192 50304192 C T rs117687848 ALG12 Nonsynonymous SNV R120Q 0.002 0.005 0.014 4 2 2 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 138163 chr2 213878534 213878534 G A rs147563053 IKZF2 Synonymous SNV S279S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 138164 chr22 50660301 50660301 G C rs139343360 TUBGCP6 Synonymous SNV V829V 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign/Likely benign 0.258 138165 chr15 74919963 74919963 C T rs770827228 CLK3 Synonymous SNV T480T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 138166 chr2 149226471 149226471 A G rs962564980 MBD5 Nonsynonymous SNV N320S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 138167 chr7 25194636 25194636 T A rs149091804 C7orf31 Nonsynonymous SNV T197S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 138168 chr7 25194637 25194637 C T rs543319882 C7orf31 Synonymous SNV K196K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 138169 chr15 75649207 75649207 C T rs369832470 MAN2C1 Nonsynonymous SNV G763S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 138170 chr7 2565133 2565133 G A rs142596712 LFNG Nonsynonymous SNV V223I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 0.027 138171 chr22 51178286 51178286 C T rs140364806 ACR Nonsynonymous SNV T149I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 138172 chr2 225702539 225702539 G A rs373071946 DOCK10 Synonymous SNV T924T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.135 138173 chr2 220111933 220111933 C A STK16 Synonymous SNV G135G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.52 138174 chr2 216285445 216285445 G A rs138144264 FN1 Synonymous SNV N542N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.36 138175 chr2 216965100 216965100 A T rs142981658 TMEM169 Nonsynonymous SNV Q243H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.386 138176 chr2 220312836 220312836 G A SPEG Nonsynonymous SNV R319Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.7 138177 chr2 220313633 220313633 G A rs200066956 SPEG Nonsynonymous SNV G585S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 22.6 138178 chr2 217293367 217293367 C T rs139872089 SMARCAL1 Nonsynonymous SNV T399M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.393 138179 chr2 165994600 165994600 G A rs745450559 SCN3A Nonsynonymous SNV P678L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.5 138180 chr2 105979823 105979823 G A rs1050970163 FHL2 Nonsynonymous SNV R89C 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 32 138181 chr2 166172155 166172155 A T rs746957483 SCN2A Nonsynonymous SNV N520Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.73 138182 chr12 6959751 6959751 A G rs150858074 CDCA3 Nonsynonymous SNV S44P 0.003 0 0.014 0 3 0 0 4 0 0 0 0 29.5 138183 chr2 166848337 166848337 A T SCN1A Nonsynonymous SNV D1816E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 138184 chr7 36461495 36461495 G A rs138189874 ANLN Synonymous SNV Q694Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.966 138185 chr12 7045898 7045906 CAGCAGCAG - ATN1 Q500_Q502del 0.005 0.003 0 0 6 1 0 0 0 0 0 0 138186 chr12 7343070 7343070 G A PEX5 Nonsynonymous SNV E33K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 138187 chr2 168098401 168098401 C - XIRP2 P165Qfs*21 0.002 0.003 0 0 2 1 0 0 0 0 0 0 138188 chr2 168098403 168098403 C T XIRP2 Nonsynonymous SNV P165S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 138189 chr2 133489512 133489512 G A rs571370444 NCKAP5 Synonymous SNV D428D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.543 138190 chr2 170367071 170367071 C T rs141574405 KLHL41 Synonymous SNV G261G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 4.888 138191 chr7 47882701 47882701 G A rs760530059 PKD1L1 Synonymous SNV V1768V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.312 138192 chr2 152222684 152222684 G A rs200351871 TNFAIP6 Nonsynonymous SNV R116H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 138193 chr2 233412872 233412872 G A rs184081670 TIGD1 Nonsynonymous SNV S574L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.03 138194 chr12 11061572 11061572 A T rs202178459 TAS2R13 Nonsynonymous SNV L109H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 138195 chr2 234343482 234343482 C T rs758931999 DGKD Nonsynonymous SNV P130L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 138196 chr2 157185880 157185880 T C rs140657200 NR4A2 Synonymous SNV Q273Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Likely benign 0.006 138197 chr2 241827931 241827931 C T rs73108535 MAB21L4 Synonymous SNV P343P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.57 138198 chr7 56146715 56146715 A G rs186963977 SUMF2 Nonsynonymous SNV K293E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.11 138199 chr2 166866307 166866307 T A rs121917910 SCN1A Nonsynonymous SNV E1308D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.2 138200 chr12 18466938 18466938 A T rs373231729 PIK3C2G Nonsynonymous SNV K359N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 15.98 138201 chr12 18644413 18644413 T G rs387907449 PIK3C2G Nonsynonymous SNV L864R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 29.6 138202 chr7 7135870 7135870 T A rs6976810 LOC100131257 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 138203 chr12 51501097 51501097 A G rs375194514 TFCP2 Synonymous SNV D199D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.127 138204 chr2 198623669 198623669 A G rs200391163 BOLL Synonymous SNV D211D 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 17.6 138205 chr2 27666385 27666385 G A rs140860919 KRTCAP3 Nonsynonymous SNV G201R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.4 138206 chr2 242433497 242433497 C T rs867531141 FARP2 Nonsynonymous SNV P1041L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.567 138207 chr2 172967179 172967179 G T rs928131621 DLX2 Nonsynonymous SNV P30T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.6 138208 chr2 176988838 176988838 T C rs368352732 HOXD9 Nonsynonymous SNV W332R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 138209 chr2 25016178 25016178 C G rs374867003 PTRHD1 Nonsynonymous SNV Q23H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.5 138210 chr2 178879055 178879055 C T rs77477862 PDE11A Nonsynonymous SNV A349T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 21.7 138211 chr2 25967156 25967156 C T rs201808592 ASXL2 Nonsynonymous SNV A424T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 23.1 138212 chr2 179393709 179393709 T C rs375572802 TTN Nonsynonymous SNV H26525R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 15.33 138213 chr7 91630330 91630330 G A rs138161478 AKAP9 Nonsynonymous SNV V367M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.043 138214 chr2 179397858 179397858 A G rs373479287 TTN Nonsynonymous SNV L25430P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.2 138215 chr2 203242206 203242206 C A rs549281044 BMPR2 Synonymous SNV S3S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 15.63 138216 chr2 26624883 26624883 C T rs146049908 DRC1 Nonsynonymous SNV A9V 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Uncertain significance 0.121 138217 chr12 32778663 32778663 C A rs144693221 FGD4 Nonsynonymous SNV P387T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.972 138218 chr2 241530423 241530423 C T rs150614251 CAPN10 Synonymous SNV Y155Y 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Likely benign 11.01 138219 chr2 179565900 179565900 G C rs368306416 TTN Nonsynonymous SNV P8966R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 13.91 138220 chr2 37402314 37402314 G - SULT6B1 D196Tfs*11 0.001 0 0 2 1 0 0.005 0 0 0 0 0 138221 chr2 241679488 241679488 G A rs144520412 KIF1A Synonymous SNV R1195R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.04 138222 chr12 53680352 53680352 G A rs946286628 ESPL1 Nonsynonymous SNV G1278S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.097 138223 chr16 1837701 1837701 G A rs533118487 NUBP2 Nonsynonymous SNV D120N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 138224 chr2 27306682 27306682 G A rs199664509 EMILIN1 Nonsynonymous SNV R748H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 138225 chr7 96635388 96635388 A G rs35692573 DLX6 Synonymous SNV Q33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.5 138226 chr2 241869648 241869648 G A rs571117510 CROCC2 Synonymous SNV L237L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.304 138227 chr7 97858393 97858393 C T TECPR1 Nonsynonymous SNV A790T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 138228 chr2 27447964 27447964 C T rs770974703 CAD Synonymous SNV A491A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 138229 chr2 27462246 27462246 C T CAD Synonymous SNV S1704S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.86 138230 chr7 99662132 99662132 C T ZSCAN21 Nonsynonymous SNV T404I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.328 138231 chr7 99669677 99669677 G C ZNF3 Nonsynonymous SNV P151A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 138232 chr16 2369592 2369592 C T rs117603931 ABCA3 Nonsynonymous SNV R288K 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 138233 chr8 100287365 100287365 G T rs766504530 VPS13B Nonsynonymous SNV D903Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 138234 chr12 56420593 56420593 C T rs184161894 IKZF4 Synonymous SNV S60S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.05 138235 chr2 26690077 26690077 C T rs200144841 OTOF Nonsynonymous SNV E728K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 138236 chr2 26739428 26739428 C T rs116314622 OTOF Nonsynonymous SNV G123S 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign/Likely benign 21.5 138237 chr2 55181173 55181173 A G EML6 Nonsynonymous SNV M1456V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.35 138238 chr12 57109710 57109710 A C NACA Synonymous SNV A1868A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.729 138239 chr16 4033286 4033286 C T rs200075573 ADCY9 Synonymous SNV A822A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.809 138240 chr12 50393465 50393465 C T rs374315258 RACGAP1 Nonsynonymous SNV G170R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 138241 chr2 55906887 55906887 G A PNPT1 Synonymous SNV N203N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 138242 chr2 176987576 176987576 G C HOXD9 Nonsynonymous SNV G27A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 138243 chr2 1926131 1926131 C T rs373769933 MYT1L Synonymous SNV P470P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.019 138244 chr12 59283871 59283871 T C rs774050948 LRIG3 Nonsynonymous SNV N129S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 138245 chr2 67631095 67631095 G T rs148395449 ETAA1 Synonymous SNV T427T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.706 138246 chr2 38231145 38231145 A G rs143879249 RMDN2 Synonymous SNV L207L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.507 138247 chr8 113569137 113569137 T A CSMD3 Synonymous SNV G1233G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.205 138248 chr2 70124578 70124578 A G rs750631747 SNRNP27 Nonsynonymous SNV D113G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 138249 chr8 11643504 11643504 G T NEIL2 Nonsynonymous SNV A180S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 138250 chr8 11666092 11666092 C T rs369159185 FDFT1 Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 138251 chr2 44175301 44175301 C A LRPPRC Nonsynonymous SNV R627L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 138252 chr2 44457558 44457558 G A rs139541400 PPM1B Nonsynonymous SNV D94N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 19.1 138253 chr2 32819024 32819024 G A rs138518623 BIRC6 Synonymous SNV A4466A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.18 138254 chr12 52962134 52962134 G A rs147945552 KRT74 Nonsynonymous SNV R392W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 138255 chr8 125551281 125551281 G C rs371587477 TATDN1 Nonsynonymous SNV R3G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 138256 chr16 15729914 15729914 T C rs371965441 MARF1 Nonsynonymous SNV I144V 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.002 138257 chr12 80729837 80729837 A G OTOGL Nonsynonymous SNV D1497G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 138258 chr2 54122796 54122796 T C rs139295214 PSME4 Nonsynonymous SNV I1256V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.004 138259 chr2 3749154 3749154 A G rs200664184 ALLC Synonymous SNV E301E 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.06 138260 chr12 53215690 53215690 G A rs761349072 KRT79 Nonsynonymous SNV T525I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 138261 chr2 38795554 38795554 A G rs200810217 HNRNPLL Nonsynonymous SNV I483T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 13.33 138262 chr16 17352852 17352852 G A XYLT1 Synonymous SNV P302P 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 10.67 138263 chr8 132051834 132051834 G C rs74844713 ADCY8 Nonsynonymous SNV T249S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 138264 chr16 18863522 18863522 C A SMG1 Nonsynonymous SNV G1640V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25 138265 chr2 74682210 74682210 A G rs201289341 INO80B-WBP1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 138266 chr2 39405784 39405784 C T rs200954052 CDKL4 Synonymous SNV Q348Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.21 138267 chr2 39406462 39406462 C G rs199802809 CDKL4 Nonsynonymous SNV G265R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 138268 chr12 83251307 83251307 T C rs145474443 TMTC2 Nonsynonymous SNV V201A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.61 138269 chr8 133492555 133492555 G C rs138254004 KCNQ3 Nonsynonymous SNV D75E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 138270 chr12 89744658 89744658 G A rs139318648 DUSP6 Nonsynonymous SNV S182F 0 0.003 0 0 0 1 0 0 0 0 0 0 risk factor 24.4 138271 chr11 66461684 66461684 T C rs756445671 SPTBN2 Nonsynonymous SNV M1477V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 138272 chr12 53454938 53454938 G A rs139881378 TNS2 Nonsynonymous SNV G1093E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.6 138273 chr2 223793581 223793581 G A rs370428500 ACSL3 Synonymous SNV V489V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 138274 chr8 134274309 134274309 C A rs374160497 NDRG1 Nonsynonymous SNV A37S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 138275 chr2 85024705 85024705 G A DNAH6 Nonsynonymous SNV D3802N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22 138276 chr2 68729939 68729939 A G rs139869963 APLF Nonsynonymous SNV Y82C 0.011 0.008 0.014 2 13 3 0.005 4 0 0 1 0 15.18 138277 chr2 68882648 68882648 G A rs150404607 PROKR1 Synonymous SNV L374L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 6.677 138278 chr16 27715233 27715233 C T rs147645225 KIAA0556 Synonymous SNV L435L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.84 138279 chr2 230643657 230643657 T C rs762270418 TRIP12 Nonsynonymous SNV Q1370R 0 0.003 0 0 0 1 0 0 0 0 0 0 19 138280 chr2 230723530 230723530 T A rs141409180 TRIP12 Nonsynonymous SNV T287S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.899 138281 chr11 68831408 68831408 C T rs140012274 TPCN2 Synonymous SNV F233F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.67 138282 chr2 190592669 190592669 C T rs775860098 ANKAR Nonsynonymous SNV A908V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.13 138283 chr2 73490898 73490898 G T rs768201623 FBXO41 Synonymous SNV I661I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.553 138284 chr11 69518593 69518593 G A rs530553980 FGF19 Synonymous SNV L18L 0.01 0.003 0 0 12 1 0 0 0 0 0 0 7.675 138285 chr12 56495735 56495735 C T rs778529173 ERBB3 Nonsynonymous SNV R1309C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 138286 chr16 29755751 29755766 CTGCTCGGGTTCAGCC - C16orf54 Stop gain W169* 0.003 0.003 0 0 3 1 0 0 0 0 0 0 138287 chr12 102074127 102074127 A G rs146933347 MYBPC1 Nonsynonymous SNV I1034V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 138288 chr2 233348215 233348215 G A rs147875963 ECEL1 Synonymous SNV L473L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 7.614 138289 chr16 30673889 30673889 C A rs61997235 FBRS Nonsynonymous SNV P255H 0.004 0.01 0.007 3 5 4 0.008 2 0 0 0 0 27.1 138290 chr16 30680655 30680655 G A rs61738568 FBRS Nonsynonymous SNV G878S 0.004 0.01 0.007 3 5 4 0.008 2 0 0 0 0 21.1 138291 chr2 80101372 80101372 C T rs76801084 CTNNA2 Synonymous SNV A252A 0.011 0.008 0.003 4 13 3 0.01 1 0 0 0 0 16.73 138292 chr2 85049156 85049156 C T rs772631869 TRABD2A Nonsynonymous SNV R419H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.183 138293 chr12 58196129 58196129 - A rs753128516 AVIL Frameshift insertion F656Vfs*7 0.001 0 0.003 0 1 0 0 1 0 0 0 0 138294 chr11 75141668 75141668 G A rs538741110 KLHL35 Stop gain Q3X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 28.1 138295 chr8 144940995 144940995 A G EPPK1 Nonsynonymous SNV Y2143H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 138296 chr2 236649683 236649683 G T rs182854140 AGAP1 Synonymous SNV P129P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.3 138297 chr8 144992830 144992830 G A rs782795280 PLEC Nonsynonymous SNV A3706V 0 0 0.003 0 0 0 0 1 0 0 0 0 27 138298 chr2 238275554 238275554 G C rs150200531 COL6A3 Nonsynonymous SNV A1152G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.981 138299 chr2 238289643 238289643 G A rs138036318 COL6A3 Synonymous SNV I197I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.712 138300 chr12 70990011 70990011 G A rs765093246 PTPRB Nonsynonymous SNV S141L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.134 138301 chr12 71003029 71003029 C T rs772118841 PTPRB Nonsynonymous SNV G49S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 138302 chr2 98430563 98430563 T C rs181631099 TMEM131 Synonymous SNV E496E 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 4.505 138303 chr2 99984978 99984978 C T rs774925077 EIF5B Synonymous SNV D437D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.23 138304 chr16 56921879 56921879 G A rs138977195 SLC12A3 Nonsynonymous SNV G741R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 138305 chr3 101383465 101383465 C T ZBTB11 Nonsynonymous SNV E573K 0.003 0 0 2 4 0 0.005 0 0 0 0 0 32 138306 chr12 79842893 79842893 G A rs61756211 SYT1 Nonsynonymous SNV V420I 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 7.924 138307 chr8 145616207 145616207 G A rs556660351 ADCK5 Nonsynonymous SNV R165Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 138308 chr16 57718006 57718006 C T rs368898879 ADGRG3 Synonymous SNV F228F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.93 138309 chr8 145738979 145738979 C T rs766748490 RECQL4 Nonsynonymous SNV A726T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.72 138310 chr8 145830928 145830928 C T rs745463923 ARHGAP39 Synonymous SNV S24S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 11.5 138311 chr16 58713762 58713762 A G rs201621133 SLC38A7 Nonsynonymous SNV M90T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.5 138312 chr16 67696044 67696044 G A rs373776491 PARD6A Nonsynonymous SNV V178M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 138313 chr12 121600323 121600323 G A rs199529465 P2RX7 Nonsynonymous SNV R178Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 138314 chr16 67840346 67840346 C T rs201598546 RANBP10 Nonsynonymous SNV E32K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 138315 chr3 120998761 120998761 C T rs758895320 STXBP5L Stop gain R690X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 138316 chr16 68267317 68267317 C G ESRP2 Nonsynonymous SNV E190Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 138317 chr16 68395174 68395174 C T rs763430018 SMPD3 Nonsynonymous SNV G635S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 138318 chr11 101833267 101833269 AAA - rs529950842 CEP126 K501del 0.014 0.005 0.007 1 16 2 0.003 2 0 0 0 0 138319 chr12 122361711 122361711 C T rs34703321 WDR66 Nonsynonymous SNV R188W 0 0.005 0 0 0 2 0 0 0 0 0 0 17.74 138320 chr12 122404946 122404946 C T rs146415200 WDR66 Nonsynonymous SNV R860C 0 0.005 0 0 0 2 0 0 0 0 0 0 25 138321 chr16 70190514 70190514 G A rs117263218 PDPR Nonsynonymous SNV R691Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 138322 chr2 220103914 220103914 C T rs142820300 GLB1L Nonsynonymous SNV R231H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.6 138323 chr2 233351209 233351209 A G rs564717204 ECEL1 Nonsynonymous SNV L52P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 138324 chr12 123341599 123341599 C T rs756695315 HIP1R Nonsynonymous SNV T551M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 138325 chr8 21959793 21959793 C T rs767210326 FAM160B2 Synonymous SNV P652P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.95 138326 chr3 10312544 10312544 G A rs768356638 TATDN2 Nonsynonymous SNV A560T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 138327 chr2 26667810 26667810 C T rs377330459 DRC1 Nonsynonymous SNV R464C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.1 138328 chr3 122864969 122864969 C T rs377099133 PDIA5 Synonymous SNV V335V 0.005 0 0 0 6 0 0 0 0 0 0 0 19.22 138329 chr3 10342954 10342954 G A rs141884872 SEC13 Synonymous SNV N306N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.41 138330 chr16 71885541 71885541 G C rs768701784 ATXN1L Nonsynonymous SNV R633P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.552 138331 chr16 72828265 72828265 G A rs2229289 ZFHX3 Synonymous SNV H1858H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.14 138332 chr8 22472949 22472949 C T rs150957244 CCAR2 Nonsynonymous SNV A406V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 138333 chr16 72984650 72984650 C T rs371914920 ZFHX3 Synonymous SNV A64A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 138334 chr12 107391708 107391708 T C rs200276160 CRY1 Nonsynonymous SNV N425S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.86 138335 chr11 108043471 108043471 T C NPAT Nonsynonymous SNV D747G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 138336 chr2 234854547 234854547 A T rs28901637 TRPM8 Synonymous SNV P249P 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.044 138337 chr12 109042612 109042612 T C rs75283310 CORO1C Synonymous SNV Q411Q 0.003 0 0 0 4 0 0 0 0 0 0 0 3.067 138338 chr12 109577481 109577481 T C ACACB Nonsynonymous SNV S91P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 138339 chr12 112036781 112036797 GTTGCTGCTGCTGCTGC - rs759304594 ATXN2 Q15Afs*69 0.002 0 0 0 2 0 0 0 0 0 0 0 138340 chr3 12195848 12195848 G A rs151021424 TIMP4 Synonymous SNV Y152Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.976 138341 chr12 113557202 113557202 G A rs760341144 RASAL1 Nonsynonymous SNV R159C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 138342 chr3 112729916 112729916 C T rs115971253 NEPRO Nonsynonymous SNV V130I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.29 138343 chr12 132547129 132547129 - CAGCAGCAGCAGCAA rs763599823 EP400 Q2748_T2749insQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 138344 chr2 31428191 31428191 G A rs79600252 CAPN14 Synonymous SNV G41G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.19 138345 chr12 114837349 114837349 C A rs77357563 TBX5 Nonsynonymous SNV D61Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 34 138346 chr2 32667429 32667429 C A rs61735955 BIRC6 Synonymous SNV R1382R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 138347 chr3 113675310 113675310 T G rs138239523 ZDHHC23 Nonsynonymous SNV F333V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 138348 chr2 232952396 232952396 G C rs755258805 DIS3L2 Nonsynonymous SNV G189A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Uncertain significance 8.886 138349 chr16 84135285 84135285 C T rs774683641 MBTPS1 Nonsynonymous SNV C35Y 0.003 0 0 0 3 0 0 0 0 0 0 0 24 138350 chr11 118518753 118518753 C T rs117947426 PHLDB1 Synonymous SNV V1158V 0.003 0 0 0 4 0 0 0 0 0 0 0 20.7 138351 chr3 124738290 124738290 A G rs73189203 HEG1 Synonymous SNV D468D 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.086 138352 chr3 124826801 124826801 C T rs114987541 SLC12A8 Nonsynonymous SNV C410Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.56 138353 chr16 84328713 84328713 A G rs781466629 WFDC1 Nonsynonymous SNV K46E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 138354 chr3 125170207 125170207 C T rs201846490 SNX4 Nonsynonymous SNV R416Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.23 138355 chr2 234669607 234669607 T G rs35003977 UGT1A1 Nonsynonymous SNV V225G 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity, other 2.322 138356 chr2 241889768 241889768 C T CROCC2 Synonymous SNV T890T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.777 138357 chr11 120349040 120349040 C T rs201932467 ARHGEF12 Synonymous SNV I1217I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.93 138358 chr8 39634647 39634647 C A rs376672589 ADAM2 Nonsynonymous SNV V290F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 138359 chr2 39978237 39978237 T A THUMPD2 Nonsynonymous SNV D391V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.923 138360 chr8 48650242 48650242 C A rs376067725 CEBPD Synonymous SNV V147V 0.003 0 0.007 0 4 0 0 2 1 0 0 0 11.01 138361 chr16 87637894 87637905 CTGCTGCTGCTG - JPH3 A154_A157del 0.001 0 0 3 1 0 0.008 0 0 0 0 0 138362 chr16 87637905 87637905 - CTGCTG JPH3 A157_V158insAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 138363 chr2 44036857 44036857 A G DYNC2LI1 Nonsynonymous SNV Y337C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.3 138364 chr13 26967562 26967562 C T rs17083996 CDK8 Synonymous SNV H62H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 10.39 138365 chr2 55155878 55155878 G T EML6 Nonsynonymous SNV V1332L 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 4.477 138366 chr13 32893434 32893439 AGAATT - rs80359362 BRCA2 E97_L98del 0 0.003 0 0 0 1 0 0 0 0 0 0 138367 chr3 133119385 133119385 T A rs142404860 BFSP2 Nonsynonymous SNV L153Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.9 138368 chr11 124621392 124621392 G A rs747958171 VSIG2 Nonsynonymous SNV T49M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 138369 chr13 33591120 33591120 G A KL Nonsynonymous SNV R181Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 138370 chr16 88925047 88925047 C A rs779940140 TRAPPC2L Synonymous SNV R18R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 138371 chr13 37573407 37573407 G C rs147574138 ALG5 Nonsynonymous SNV L11V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.592 138372 chr13 37573408 37573408 C A rs574584993 ALG5 Synonymous SNV V10V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.38 138373 chr8 77896111 77896111 G T rs200065382 PEX2 Nonsynonymous SNV Q102K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.4 138374 chr13 39542639 39542639 C G rs760119665 STOML3 Synonymous SNV G183G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.069 138375 chr3 143292932 143292932 G A SLC9A9 Nonsynonymous SNV T333I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 138376 chr12 133306595 133306595 G A rs375055766 ANKLE2 Nonsynonymous SNV A718V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.034 138377 chr12 133372718 133372718 T C GOLGA3 Nonsynonymous SNV Q730R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 138378 chr13 43986142 43986142 T C ENOX1 Star tloss M75V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 138379 chr12 133430060 133430060 C T CHFR Synonymous SNV Q363Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.349 138380 chr17 648268 648268 G A rs765046840 GEMIN4 Synonymous SNV A1005A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.41 138381 chr3 151599285 151599285 A G rs763798981 SUCNR1 Synonymous SNV T318T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 138382 chr9 100222957 100222957 C T rs146047308 TDRD7 Synonymous SNV D377D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 138383 chr9 100692648 100692648 G T rs35527067 HEMGN Synonymous SNV I343I 0.004 0 0.014 0 5 0 0 4 0 0 0 0 Benign 10.12 138384 chr2 40404966 40404966 C T rs5556 SLC8A1 Nonsynonymous SNV R613H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.93 138385 chr3 148552330 148552330 A G rs146504027 CPB1 Nonsynonymous SNV S65G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.43 138386 chr13 24190017 24190017 C T rs145815290 TNFRSF19 Synonymous SNV F64F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 138387 chr2 73496580 73496597 GCGGCGGCGGCGGCCGCG - rs773185520 FBXO41 A56_A61del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 138388 chr2 74327686 74327686 G A rs764273092 TET3 Synonymous SNV V1164V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 4.438 138389 chr2 74642548 74642548 C G rs548666922 C2orf81 Synonymous SNV S157S 0 0.008 0 0 0 3 0 0 0 0 0 0 11.72 138390 chr3 151161258 151161258 C T rs147801336 IGSF10 Nonsynonymous SNV G1826D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Uncertain significance 21.5 138391 chr2 46739279 46739279 T G ATP6V1E2 Nonsynonymous SNV K191T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 138392 chr3 153220213 153220213 C T rs61742013 C3orf79 0.003 0 0 0 4 0 0 0 0 0 0 0 12.83 138393 chr2 47601034 47601034 A G rs755230402 EPCAM Nonsynonymous SNV N91S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.2 138394 chr13 29287342 29287342 C T SLC46A3 Nonsynonymous SNV V179I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 138395 chr13 77837852 77837852 C T rs766974202 MYCBP2 Nonsynonymous SNV A502T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 138396 chr13 88329746 88329746 C T rs34892880 SLITRK5 Synonymous SNV S701S 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 Benign 12.85 138397 chr13 95257795 95257795 A C GPR180 Nonsynonymous SNV Q99P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.35 138398 chr2 86459822 86459822 C G REEP1 Nonsynonymous SNV G96R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.81 138399 chr2 29293681 29293681 C T rs200278694 PCARE Synonymous SNV P1149P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 9.684 138400 chr9 114375519 114375519 G A rs10980969 LRRC37A5P 0 0 0.075 0 0 0 0 22 0 0 1 0 5.829 138401 chr2 54877014 54877014 A G rs146380966 SPTBN1 Nonsynonymous SNV Q1809R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.09 138402 chr3 140785103 140785103 C T rs775144072 SPSB4 Nonsynonymous SNV R53W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 138403 chr13 99030126 99030126 G A rs75258648 FARP1 Synonymous SNV T150T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.71 138404 chr3 164907053 164907053 G T SLITRK3 Nonsynonymous SNV D522E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.057 138405 chr2 96795572 96795572 G A rs376388497 ASTL Nonsynonymous SNV R289C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.13 138406 chr2 55874559 55874559 C T rs146571352 PNPT1 Nonsynonymous SNV V509I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 138407 chr13 37678581 37678581 G A rs144553773 CSNK1A1L Synonymous SNV V271V 0.011 0.008 0 2 13 3 0.005 0 0 0 0 0 10.08 138408 chr2 96952155 96952155 G C rs144934076 SNRNP200 Synonymous SNV T1299T 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.98 138409 chr3 179519666 179519666 T G rs753905201 PEX5L Nonsynonymous SNV N419H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 138410 chr3 142561883 142561883 C T rs757144606 PCOLCE2 Synonymous SNV Q152Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.94 138411 chr13 103386192 103386192 G A rs368355925 CCDC168 Nonsynonymous SNV R5619C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 138412 chr13 41767970 41767970 G C rs1053796430 KBTBD7 Nonsynonymous SNV Q142E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.275 138413 chr3 172365739 172365739 C T rs545160126 NCEH1 Nonsynonymous SNV E102K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.583 138414 chr13 41767974 41767974 A G rs776488778 KBTBD7 Synonymous SNV N140N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 138415 chr2 98736204 98736204 A G rs762487434 VWA3B Nonsynonymous SNV I174V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 138416 chr2 38177632 38177632 C T rs76027928 RMDN2-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.03 138417 chr2 38178965 38178965 A G rs75764221 RMDN2 Nonsynonymous SNV I203V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 138418 chr2 38224611 38224611 A G rs79197518 RMDN2 Nonsynonymous SNV K188R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.36 138419 chr3 100593719 100593719 C T rs202079501 ABI3BP Nonsynonymous SNV M299I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 138420 chr3 184429216 184429216 C G rs201193072 MAGEF1 Nonsynonymous SNV E132Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.51 138421 chr13 110437555 110437555 G A rs748382833 IRS2 Synonymous SNV N282N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.839 138422 chr3 184971805 184971805 G C rs141515588 EHHADH Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.7 138423 chr3 107941129 107941129 T A rs754063023 IFT57 Nonsynonymous SNV E14V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.5 138424 chr2 73474978 73474978 A G rs775593325 CCT7 Nonsynonymous SNV K32R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.868 138425 chr13 114058367 114058369 CCC - LOC101928841 G1379del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 138426 chr13 114058372 114058476 TTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCC - LOC101928841 A1344_K1378del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 138427 chr13 70681821 70681821 G C rs144867124 KLHL1 Nonsynonymous SNV S4C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 138428 chr12 12976903 12976903 C T rs766813348 DDX47 Stop gain R284X 0.001 0 0 3 1 0 0.008 0 0 0 0 0 39 138429 chr3 170805171 170805171 C T rs376646276 TNIK Nonsynonymous SNV R857H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24 138430 chr13 86369589 86369589 A G rs199516562 SLITRK6 Nonsynonymous SNV I352T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 24.1 138431 chr14 20692375 20692375 C T rs377700349 OR11H6 Synonymous SNV G169G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.201 138432 chr13 96361507 96361507 G A rs972836218 DNAJC3 Nonsynonymous SNV V37I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 138433 chr13 98828982 98828982 C T RNF113B Nonsynonymous SNV G170E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 138434 chr2 86434316 86434316 G A rs1132002 MRPL35 Nonsynonymous SNV V82M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 21.2 138435 chr14 20897707 20897707 C T KLHL33 Nonsynonymous SNV A335T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 138436 chr2 95815610 95815615 TTACAT - rs565966048 ZNF514 K278_C279del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 138437 chr2 98732183 98732183 A G VWA3B Nonsynonymous SNV R89G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.59 138438 chr3 195495991 195495991 G A rs746992188 MUC4 Synonymous SNV D190D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.87 138439 chr2 7164521 7164521 A G rs139600684 RNF144A Synonymous SNV E94E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.383 138440 chr2 7164525 7164525 G A rs144466433 RNF144A Nonsynonymous SNV D96N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.9 138441 chr2 71886156 71886156 A G rs772664716 DYSF Nonsynonymous SNV N1582S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.2 138442 chr9 134454956 134454956 T C rs200892914 RAPGEF1 Synonymous SNV L1071L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 138443 chr3 186272372 186272372 T C rs34930690 TBCCD1 Synonymous SNV P309P 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 3.355 138444 chr3 101375057 101375057 T C ZBTB11 Synonymous SNV L694L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.268 138445 chr9 135202230 135202230 A C rs151237267 SETX Synonymous SNV P1585P 0.001 0.005 0.014 0 1 2 0 4 0 0 0 0 Benign/Likely benign 0.033 138446 chr3 36893718 36893718 C T rs369676512 TRANK1 Synonymous SNV E1512E 0.003 0.003 0 8 4 1 0.021 0 0 0 0 0 14.34 138447 chr13 114061748 114061748 G T rs943655985 LOC101928841 Nonsynonymous SNV P253T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 138448 chr14 23635621 23635621 C T rs139927895 SLC7A8 Nonsynonymous SNV A94T 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 34 138449 chr2 74701824 74701824 C T rs145698910 CCDC142 Nonsynonymous SNV G701D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 8.816 138450 chr14 24567560 24567560 C T rs746104381 PCK2 Stop gain R142X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 138451 chr9 137593122 137593122 C G rs147008954 COL5A1 Nonsynonymous SNV I199M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.29 138452 chr9 137741029 137741029 C G MIR3689A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 138453 chr9 137741036 137741059 ATCACACCTCCCAGGAAGCACAGG - MIR3689A 0 0 0.003 0 0 0 0 1 0 0 0 0 138454 chr9 137742202 137742202 T C rs199611566 MIR3689D2 0 0 0.068 0 0 0 0 20 0 0 0 0 0.739 138455 chr9 138395246 138395246 G A rs114368209 LOC101928525 0 0 0.007 0 0 0 0 2 0 0 0 0 2.918 138456 chr3 126071525 126071525 A G rs748522822 KLF15 Synonymous SNV L81L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.029 138457 chr3 113120482 113120482 G A rs143438550 CFAP44 Synonymous SNV L425L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Likely benign 9.674 138458 chr14 20978738 20978738 G T rs74037153 RNASE10 Nonsynonymous SNV E36D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 138459 chr12 49443678 49443678 G A KMT2D Synonymous SNV D1231D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.396 138460 chr3 195595559 195595559 C A rs143787673 TNK2 Nonsynonymous SNV S554I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.33 138461 chr2 99443445 99443445 A G rs757529019 KIAA1211L Nonsynonymous SNV L243P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.6 138462 chr3 128721137 128721137 G A rs57803238 EFCC1 Synonymous SNV Q222Q 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 11.43 138463 chr3 128722685 128722685 G A rs114656923 EFCC1 Nonsynonymous SNV G249R 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 1.841 138464 chr3 119222803 119222803 C - TIMMDC1 T151Kfs*2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 138465 chr3 128984409 128984409 G A rs78889622 COPG1 Synonymous SNV K414K 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 10.85 138466 chr3 129137245 129137245 T G rs116798859 EFCAB12 Nonsynonymous SNV Q178P 0.003 0.01 0.014 1 4 4 0.003 4 0 0 1 0 8.22 138467 chr3 129270029 129270029 A G rs59415528 H1-8 Nonsynonymous SNV N157S 0.005 0.008 0.017 1 6 3 0.003 5 0 0 0 0 0.072 138468 chr14 38724267 38724267 T G rs61978105 CLEC14A Nonsynonymous SNV I321L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.134 138469 chr3 25216036 25216036 C T rs764694971 RARB Nonsynonymous SNV P50S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.95 138470 chr14 21896304 21896304 C T rs553367989 CHD8 Nonsynonymous SNV G442E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.663 138471 chr3 27387641 27387641 C T rs55958314 NEK10 Nonsynonymous SNV G67S 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 11.47 138472 chr9 139837124 139837124 C T rs371335676 FBXW5 Nonsynonymous SNV V184M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 138473 chr14 45665719 45665719 T C rs746870942 FANCM Synonymous SNV C1869C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 1.745 138474 chr3 130313169 130313169 G A rs202216308 COL6A6 Synonymous SNV K1505K 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 6.188 138475 chr3 46062782 46062782 G A rs745493157 XCR1 Nonsynonymous SNV R220C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 138476 chr17 26888506 26888506 G C rs140545278 PIGS Nonsynonymous SNV L204V 0.004 0 0 0 5 0 0 0 0 0 0 0 15.07 138477 chr3 3189825 3189825 T C rs150984011 TRNT1 Nonsynonymous SNV I411T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.8 138478 chr3 33134796 33134796 G A TMPPE Stop gain Q298X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 138479 chr3 36898286 36898286 C T rs767450489 TRANK1 Nonsynonymous SNV G932D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 138480 chr14 24653087 24653087 G A IPO4 Synonymous SNV S629S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.524 138481 chr9 16436099 16436099 C T rs548745485 BNC2 Nonsynonymous SNV R656Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 138482 chr3 11600150 11600150 C T rs868751924 VGLL4 Synonymous SNV Q171Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.21 138483 chr3 38936401 38936401 T A rs148401428 SCN11A Nonsynonymous SNV N820Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.08 138484 chr3 49028298 49028298 C G rs759344554 P4HTM Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 138485 chr3 39432957 39432957 T C rs141545606 SLC25A38 Nonsynonymous SNV V101A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 25.5 138486 chr14 61190265 61190265 C T rs760633995 SIX4 Synonymous SNV S176S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.82 138487 chr3 40503521 40503526 CTGCTG - RPL14 A158_A159del 0.006 0.005 0 0 7 2 0 0 0 0 0 0 138488 chr3 40503526 40503526 - CTGCTGCTGCTG RPL14 A159_K160insAAAA 0.002 0 0 0 2 0 0 0 0 0 0 0 138489 chr3 49847728 49847728 C T rs151123294 UBA7 Nonsynonymous SNV G534D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 138490 chr14 33015909 33015909 T C AKAP6 Nonsynonymous SNV Y684H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 138491 chr12 54960762 54960762 C T rs147900601 PDE1B Nonsynonymous SNV R20C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 138492 chr3 50368871 50368871 C T rs150999288 RASSF1 Nonsynonymous SNV R106Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 138493 chr9 32632144 32632144 C G TAF1L Nonsynonymous SNV R1145P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 138494 chr9 32987807 32987807 A G rs772246072 APTX Nonsynonymous SNV I73T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 138495 chr3 122128589 122128589 G T rs181265174 FAM162A Nonsynonymous SNV A126S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.12 138496 chr9 35092563 35092563 C T rs148970282 PIGO Nonsynonymous SNV E441K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.89 138497 chr14 67850136 67850136 G A rs142262031 EIF2S1 Nonsynonymous SNV M309I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 138498 chr3 155615779 155615779 A T rs778899559 GMPS Synonymous SNV P91P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 6.469 138499 chr17 39316930 39316930 C A rs111435962 KRTAP4-4 Nonsynonymous SNV C5F 0.009 0.003 0 2 11 1 0.005 0 0 0 0 0 24.6 138500 chr3 49690628 49690628 C T rs766265355 BSN Synonymous SNV G1213G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.166 138501 chr9 35957226 35957226 C T rs771365231 OR2S2 Synonymous SNV P290P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.06 138502 chr9 35957662 35957662 A T rs185341034 OR2S2 Nonsynonymous SNV M145K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.6 138503 chr14 69727157 69727157 C G rs760758692 GALNT16 Synonymous SNV L50L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.76 138504 chr14 70989326 70989326 G A rs61753549 ADAM20 Nonsynonymous SNV R717C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.75 138505 chr3 53844073 53844073 G C rs767458712 CACNA1D Synonymous SNV S1956S 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 8.509 138506 chr17 39411836 39411836 C G rs201738227 KRTAP9-9 Nonsynonymous SNV L67V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.029 138507 chr3 165548666 165548666 C T rs150673481 BCHE Synonymous SNV T52T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 2.12 138508 chr9 441328 441328 A C rs373154957 DOCK8 Nonsynonymous SNV I1656L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.1 138509 chr3 46415424 46415424 G T rs375916464 CCR5 Nonsynonymous SNV G344V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 138510 chr3 141162616 141162616 C T rs147834356 ZBTB38 Synonymous SNV C462C 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 7.795 138511 chr14 74364942 74364942 A G rs756153694 ZNF410 Nonsynonymous SNV K113R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.2 138512 chr9 5920283 5920283 C T rs138788156 KIAA2026 Nonsynonymous SNV G1905R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 138513 chr14 58831406 58831406 A G ARID4A Nonsynonymous SNV K867E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 138514 chr9 5969307 5969307 C T rs73383144 KIAA2026 Synonymous SNV G308G 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 8.504 138515 chr3 57232493 57232493 C T rs143057250 HESX1 Nonsynonymous SNV V129I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 138516 chr12 62930989 62930989 A G rs144030277 MON2 Synonymous SNV Q653Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.767 138517 chr3 58834886 58834886 A G rs961173961 C3orf67 Nonsynonymous SNV C560R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.853 138518 chr3 179460066 179460066 A C rs756049135 USP13 Nonsynonymous SNV K488Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.51 138519 chr3 62636529 62636529 G A rs141787208 CADPS Nonsynonymous SNV S399L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.5 138520 chr3 64532501 64532501 C A rs139158421 ADAMTS9 Nonsynonymous SNV S1638I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 138521 chr14 76549876 76549876 C T rs150616080 IFT43 Stop gain Q200X 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 38 138522 chr14 62550962 62550962 A T SYT16 Nonsynonymous SNV T314S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 138523 chr3 69246183 69246183 T G rs573659308 FRMD4B Synonymous SNV S320S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.952 138524 chr3 132277686 132277686 T C rs76584571 NPHP3-ACAD11 0.011 0.018 0.024 4 13 7 0.01 7 0 0 0 0 1.8 138525 chr9 79322450 79322450 A G rs144510087 PRUNE2 Synonymous SNV N1580N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.007 138526 chr3 184646260 184646260 G A VPS8 Nonsynonymous SNV A872T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24 138527 chr3 62636579 62636579 G A rs74991517 CADPS Synonymous SNV G382G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.11 138528 chr3 64184685 64184685 C T rs112046271 PRICKLE2-AS3 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.063 138529 chr3 157155518 157155518 C T PTX3 Nonsynonymous SNV A116V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.99 138530 chr3 9506330 9506330 C T rs113593115 SETD5 Nonsynonymous SNV R900C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 138531 chr9 88916227 88916227 T A TUT7 Nonsynonymous SNV I1226F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 138532 chr14 65198849 65198849 C T rs142732386 PLEKHG3 Nonsynonymous SNV H388Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 138533 chr3 158372369 158372369 C T rs373952002 GFM1 Synonymous SNV N191N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.912 138534 chr3 161220819 161220819 C A rs149127996 OTOL1 Nonsynonymous SNV P175T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 15.11 138535 chr3 9880781 9880781 G A rs146799821 RPUSD3 Nonsynonymous SNV R252C 0.003 0 0 0 3 0 0 0 0 0 0 0 20.3 138536 chr3 188477956 188477956 C T LPP Synonymous SNV A285A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.56 138537 chr3 74383984 74383984 G T CNTN3 Nonsynonymous SNV Q524K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.91 138538 chr3 52012054 52012054 G A rs201635694 ABHD14A, ABHD14A-ACY1 Nonsynonymous SNV R31H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 138539 chr3 9970081 9970081 G A rs115461448 IL17RC Nonsynonymous SNV A284T 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 14.41 138540 chr9 96024241 96024241 G C WNK2 Nonsynonymous SNV S1071T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 138541 chr14 73721248 73721248 C T rs143213374 PAPLN Nonsynonymous SNV R444W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 138542 chr3 97596265 97596265 A G CRYBG3 Nonsynonymous SNV K2076R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.9 138543 chr14 74206076 74206076 C A ELMSAN1 Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 138544 chr9 98238403 98238403 G A rs2066830 PTCH1 Synonymous SNV S495S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 15.32 138545 chr3 194062550 194062550 C A rs145998351 CPN2 Synonymous SNV L294L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.769 138546 chr17 48072273 48072273 A G rs145424773 DLX3 Synonymous SNV P30P 0.008 0 0 1 9 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.725 138547 chr14 94703969 94703969 G A rs748956876 PPP4R4 Nonsynonymous SNV V186I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 138548 chr3 98188606 98188606 T G rs76190074 OR5K1 Nonsynonymous SNV F62L 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 23.2 138549 chr17 48432407 48432407 T C XYLT2 Nonsynonymous SNV Y333H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 138550 chr3 98189077 98189077 C T rs74372753 OR5K1 Synonymous SNV L219L 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 1.767 138551 chr3 98235590 98235590 T C rs146171883 CLDND1 Synonymous SNV L130L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.012 138552 chr14 75471534 75471534 C T rs751422883 EIF2B2 Synonymous SNV A176A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 138553 chr14 94931056 94931056 C T rs200105282 SERPINA9 Synonymous SNV L266L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 13.84 138554 chr3 56771216 56771216 G A rs770849860 ARHGEF3 Synonymous SNV G352G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.17 138555 chr14 95035764 95035764 G A rs145967569 SERPINA4 Synonymous SNV E409E 0.009 0.01 0.003 4 10 4 0.01 1 0 0 0 0 Benign 0.477 138556 chr12 100200380 100200380 T C rs35761686 ANKS1B Synonymous SNV R157R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.014 138557 chr12 100451442 100451442 T A rs58214704 UHRF1BP1L Nonsynonymous SNV M1111L 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 9.397 138558 chr14 77492612 77492612 G A rs202040587 IRF2BPL Synonymous SNV P508P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 138559 chr14 96730998 96730998 T C rs781224046 BDKRB1 Nonsynonymous SNV Y327H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 138560 chr17 48918052 48918052 G A rs765091150 WFIKKN2 Nonsynonymous SNV R375Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 138561 chr14 77493809 77493809 C T rs61991638 IRF2BPL Synonymous SNV Q109Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 138562 chr17 48940756 48940756 T C rs777982053 TOB1 Nonsynonymous SNV N69S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.098 138563 chr4 100235008 100235008 C T rs370516154 ADH1B Synonymous SNV S266S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 12.28 138564 chr14 77706048 77706048 G A rs1122180 TMEM63C Synonymous SNV K303K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.78 138565 chr14 77714732 77714732 C T rs61736609 TMEM63C Synonymous SNV Y548Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.414 138566 chr14 96864456 96864467 AGAGGAAGAGGA - rs776901819 AK7 E53_E56del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 138567 chr3 183776236 183776236 T C rs761776780 HTR3C Nonsynonymous SNV M194T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.35 138568 chr3 66433433 66433435 TCT - LRIG1 K821del 0.001 0 0 0 1 0 0 0 0 0 0 0 138569 chr14 100759090 100759090 G A rs148590600 SLC25A29 Nonsynonymous SNV R82C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.4 138570 chr4 103790293 103790293 C T rs142339135 CISD2 Synonymous SNV L18L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 9.351 138571 chr4 104061457 104061457 T C CENPE Nonsynonymous SNV I1932V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.01 138572 chr3 184075476 184075476 C T rs71318369 CLCN2 Nonsynonymous SNV R191Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 28.5 138573 chr3 24009349 24009349 A G rs770211929 NR1D2 Nonsynonymous SNV T385A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.5 138574 chr3 184076570 184076570 T C rs370723107 CLCN2 Synonymous SNV V84V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.129 138575 chr17 56060411 56060411 G C rs776564595 VEZF1 Nonsynonymous SNV T126S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.19 138576 chr17 56357283 56357283 C G rs775151767 MPO Nonsynonymous SNV R114T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 138577 chr14 102815014 102815014 G A rs142256269 CINP Synonymous SNV T173T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.06 138578 chr3 184689531 184689531 G A VPS8 Synonymous SNV Q1124Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.94 138579 chr14 104029461 104029461 G A rs760697714 COA8 Synonymous SNV G41G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.905 138580 chr3 98109964 98109964 G A OR5K3 Nonsynonymous SNV G152D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 138581 chr3 17131355 17131355 G A rs750617511 PLCL2 Nonsynonymous SNV R986Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 138582 chrX 36385133 36385133 C T rs188179973 CFAP47 Nonsynonymous SNV P3026S 0 0 0.007 0 0 0 0 2 0 0 1 0 24.9 138583 chr14 94528464 94528464 C T rs369471355 DDX24 Nonsynonymous SNV D408N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 138584 chr14 105609229 105609229 C T rs148815369 JAG2 Nonsynonymous SNV V1136I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.714 138585 chr3 194325120 194325120 C G rs369571041 TMEM44 Nonsynonymous SNV A358P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.48 138586 chr4 128717050 128717050 G C rs757154644 HSPA4L Nonsynonymous SNV S72T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.36 138587 chr12 120622028 120622028 C T rs117182553 GCN1 Synonymous SNV R68R 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Benign 19.23 138588 chrX 56295870 56295870 A G rs757569499 KLF8 Nonsynonymous SNV T231A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 138589 chr4 126238667 126238667 A G rs57692448 FAT4 Synonymous SNV V367V 0.002 0.01 0 3 2 4 0.008 0 0 1 0 0 Benign 0.079 138590 chr4 126371328 126371328 C A rs199778782 FAT4 Nonsynonymous SNV Q3055K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 8.98 138591 chr14 95669514 95669514 G A rs199659667 CLMN Synonymous SNV H724H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.108 138592 chr14 96001534 96001534 - GGC rs750771696 GLRX5 G40_S41insG 0.001 0 0 0 1 0 0 0 0 0 0 0 138593 chr4 128584704 128584704 A C INTU Nonsynonymous SNV T313P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 138594 chr15 30011117 30011117 G T rs201899316 TJP1 Nonsynonymous SNV R997S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.74 138595 chr4 141789491 141789491 A C rs769223931 RNF150 Nonsynonymous SNV L414W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 138596 chr4 144359501 144359501 A G rs773773389 GAB1 Nonsynonymous SNV N315D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 138597 chr3 184021448 184021448 G T rs201414592 PSMD2 Nonsynonymous SNV A282S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 29.2 138598 chr15 34396382 34396382 G A PGBD4 Synonymous SNV K550K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.417 138599 chr12 123950381 123950381 A G rs776774649 SNRNP35 Synonymous SNV E98E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.661 138600 chr10 101515475 101515475 C T rs370349081 CUTC Synonymous SNV I267I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 138601 chr14 104220570 104220570 T G rs748430307 PPP1R13B Nonsynonymous SNV L156F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 138602 chr4 147830191 147830191 G A rs768533511 TTC29 Synonymous SNV D129D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.618 138603 chr12 125397568 125397568 A G rs1138413 UBC Synonymous SNV T250T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.005 138604 chr3 33194815 33194815 G A rs373374348 SUSD5 Nonsynonymous SNV L437F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.32 138605 chr3 48611979 48611979 A G rs372838887 COL7A1 Nonsynonymous SNV V2133A 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 0.016 138606 chr3 48685328 48685328 G A rs756551154 CELSR3 Nonsynonymous SNV P2359S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.8 138607 chr12 132632233 132632233 A G rs146645255 NOC4L Nonsynonymous SNV Q170R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.604 138608 chr15 23892771 23892771 G A MAGEL2 Nonsynonymous SNV P40L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 138609 chr10 115355386 115355386 C T NRAP Nonsynonymous SNV S1475N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 138610 chr3 50645045 50645045 T C CISH Nonsynonymous SNV Q257R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.822 138611 chr4 140811064 140811084 TGCTGCTGCTGCTGCTGCTGC - MAML3 Q504_Q510del 0.002 0 0 0 2 0 0 0 0 0 0 0 138612 chr4 140811079 140811084 TGCTGC - MAML3 Q509_Q510del 0.001 0 0 0 1 0 0 0 0 0 0 0 138613 chr10 115612695 115612695 T G rs61755344 DCLRE1A Nonsynonymous SNV S83R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.287 138614 chr10 115612730 115612730 C T rs17228672 DCLRE1A Nonsynonymous SNV G71D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 138615 chr15 42602621 42602621 C T rs35285091 GANC Nonsynonymous SNV S288L 0.009 0.008 0.017 2 11 3 0.005 5 0 0 0 0 33 138616 chr10 115966018 115966018 A G rs140083082 TDRD1 Nonsynonymous SNV H438R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 138617 chr15 31329989 31329989 T C rs34915313 TRPM1 Synonymous SNV K849K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.036 138618 chr4 177056356 177056356 T C rs147125405 WDR17 Nonsynonymous SNV I399T 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 21.3 138619 chr3 52519839 52519839 G A rs200274069 NISCH Nonsynonymous SNV A567T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.344 138620 chr17 76183481 76183481 A C rs376426687 AFMID Synonymous SNV P10P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.028 138621 chr3 52546931 52546931 C T rs747836224 STAB1 Stop gain R1039X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 36 138622 chr10 118236269 118236269 A G rs76805457 PNLIPRP3 Synonymous SNV E426E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.393 138623 chr15 33954842 33954842 A G rs761349864 RYR3 Nonsynonymous SNV Q1704R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.229 138624 chr10 118357413 118357413 T C rs62641721 PNLIPRP1 Synonymous SNV F216F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 2.133 138625 chr10 118364931 118364931 T C rs17095009 PNLIPRP1 Synonymous SNV Y402Y 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.002 138626 chr10 118711468 118711468 G A rs115157777 SHTN1 Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 138627 chr15 34077881 34077881 C T rs777925575 RYR3 Nonsynonymous SNV T3096M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 138628 chr4 15482903 15482903 C T rs570923728 CC2D2A Synonymous SNV G110G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.793 138629 chr10 12077098 12077098 C G rs761300442 UPF2 Nonsynonymous SNV A109P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 138630 chr15 43820234 43820234 C T rs536415440 MAP1A Nonsynonymous SNV S2188L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 138631 chr15 44858107 44858107 T G rs200276333 SPG11 Nonsynonymous SNV N2202T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 25.6 138632 chr15 44914937 44914937 G A rs758119635 SPG11 Nonsynonymous SNV R769C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 138633 chr13 25425611 25425611 G T RNF17 Nonsynonymous SNV W1070C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 138634 chr3 43743768 43743768 A G rs779669249 ABHD5 Synonymous SNV T65T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.755 138635 chr4 177650866 177650866 C T rs41278571 VEGFC Nonsynonymous SNV R61Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 138636 chr15 40094443 40094443 G A rs140419175 GPR176 Synonymous SNV V101V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.168 138637 chr4 155533345 155533345 A G rs771105517 FGG Synonymous SNV Y44Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.454 138638 chr4 155749184 155749184 C T rs202063380 RBM46 Nonsynonymous SNV R523W 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 138639 chr3 32754768 32754768 A G rs377611501 CNOT10 Nonsynonymous SNV I160M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.4 138640 chr4 187004827 187004827 G A rs1005040113 TLR3 Nonsynonymous SNV E663K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.001 138641 chr3 57272115 57272115 T C rs147166062 APPL1 Synonymous SNV L86L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 8.257 138642 chr15 41043683 41043683 G A RMDN3 Synonymous SNV S155S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 138643 chr4 166006830 166006830 C A rs202163114 TMEM192 Synonymous SNV R195R 0.006 0 0 0 7 0 0 0 0 0 0 0 9.812 138644 chr3 38603996 38603996 C T rs41313033 SCN5A Synonymous SNV L1237L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.829 138645 chr15 52540927 52540927 G A MYO5C Synonymous SNV D572D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 138646 chr4 186456529 186456529 G T rs113792127 PDLIM3 Synonymous SNV G20G 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign/Likely benign 11.89 138647 chr15 42105182 42105182 C T rs201198761 MAPKBP1 Synonymous SNV F234F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.675 138648 chr10 129875890 129875890 C T rs145259758 PTPRE Nonsynonymous SNV R359C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 138649 chr13 39264282 39264282 G A rs145484598 FREM2 Nonsynonymous SNV R934Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 21.5 138650 chr4 187538296 187538296 C A rs761756125 FAT1 Nonsynonymous SNV V2980L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 138651 chr4 1725227 1725227 C G TACC3 Nonsynonymous SNV P27A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 138652 chr4 22456501 22456501 T C rs61736472 ADGRA3 Nonsynonymous SNV N154S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 13.5 138653 chr15 42442042 42442042 C T rs781175321 PLA2G4F Nonsynonymous SNV G310R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.531 138654 chr3 48663680 48663680 G A SLC26A6 Nonsynonymous SNV P638S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 4.146 138655 chr10 134973981 134973981 A T KNDC1 Nonsynonymous SNV M4L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 138656 chr15 42984561 42984561 T A STARD9 Synonymous SNV G3595G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.681 138657 chr4 184243172 184243172 G A rs753937324 CLDN24 Synonymous SNV P136P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.357 138658 chr3 42567486 42567486 G A VIPR1 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 138659 chr15 43574153 43574153 C T rs545415053 TGM7 Nonsynonymous SNV A414T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.4 138660 chr3 50339862 50339862 G C HYAL1 Nonsynonymous SNV Q176E 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.006 138661 chr3 50357168 50357168 A G rs184202689 HYAL2 Synonymous SNV S251S 0.006 0.013 0 0 7 5 0 0 0 0 0 0 Benign 0.004 138662 chr3 52537803 52537803 C T rs372978446 STAB1 Nonsynonymous SNV R303W 0.003 0.008 0 0 3 3 0 0 0 0 0 0 24 138663 chr4 100573620 100573620 T A rs897984972 C4orf54 Nonsynonymous SNV K729I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 138664 chr4 102946608 102946608 C G rs144768390 BANK1 Synonymous SNV P379P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.952 138665 chr15 45814419 45814419 T C rs748017939 SLC30A4 Nonsynonymous SNV K45R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 138666 chr18 10763029 10763029 C T rs200121260 PIEZO2 Nonsynonymous SNV R980H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 27.7 138667 chr15 73995361 73995361 C T rs556169986 CD276 Nonsynonymous SNV R77C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 138668 chr4 26322668 26322668 A T RBPJ Synonymous SNV T6T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 138669 chr3 58118558 58118558 G A rs141098733 FLNB Nonsynonymous SNV V1472M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 18.87 138670 chr4 110667524 110667524 T C rs780858107 CFI Nonsynonymous SNV N421S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 138671 chr15 74948095 74948095 C T rs147487761 EDC3 Nonsynonymous SNV V122M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 138672 chr4 30724785 30724785 A G PCDH7 Nonsynonymous SNV I581V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.537 138673 chr15 56208476 56208476 A T rs143372577 NEDD4 Nonsynonymous SNV V185D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.22 138674 chr3 47361142 47361142 G A KLHL18 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 138675 chr4 52928469 52928469 C T SPATA18 Synonymous SNV T131T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.52 138676 chr3 69087804 69087804 G A rs34917634 TMF1 Nonsynonymous SNV R691C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 138677 chr15 58254225 58254225 C T ALDH1A2 Synonymous SNV R316R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 138678 chr4 5667334 5667334 C A rs150367317 EVC2 Nonsynonymous SNV A225S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 138679 chr4 5667343 5667343 A T rs138728350 EVC2 Nonsynonymous SNV F222I 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Benign/Likely benign 23.7 138680 chr3 48310060 48310060 C - rs780941159 ZNF589 H294Tfs*2 0.002 0 0 1 2 0 0.003 0 0 0 0 0 138681 chr18 28968913 28968913 T C DSG4 Nonsynonymous SNV I150T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 138682 chr18 28993024 28993024 A C rs148491546 DSG4 Synonymous SNV P882P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.001 138683 chr4 5841278 5841278 C T rs140543392 CRMP1 Synonymous SNV T427T 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 18.78 138684 chr15 65115993 65115993 C G rs527276492 PIF1 Nonsynonymous SNV G181A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.235 138685 chr4 1309211 1309211 C T rs117607367 MAEA Synonymous SNV D93D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.51 138686 chr18 34385441 34385441 A G TPGS2 Nonsynonymous SNV M93T 0.006 0 0 0 7 0 0 0 0 0 0 0 22.6 138687 chr4 13603347 13603347 G C rs937149516 BOD1L1 Nonsynonymous SNV T1726S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24 138688 chr4 437720 437720 T G rs116742561 ZNF721 Nonsynonymous SNV N179T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.004 138689 chr15 66811369 66811369 C G rs150058435 ZWILCH Nonsynonymous SNV T44R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 138690 chr3 52559084 52559084 G A rs201963022 NT5DC2 Synonymous SNV A414A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.41 138691 chr4 7044149 7044149 C T rs747147340 CCDC96 Nonsynonymous SNV E173K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.03 138692 chr3 52819119 52819119 G A rs117815982 ITIH1 Synonymous SNV Q201Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 7.499 138693 chr4 48859312 48859312 T C rs143788141 OCIAD1 Synonymous SNV Y210Y 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 0.792 138694 chr10 49440275 49440275 C T rs116143480 FRMPD2 Nonsynonymous SNV G327R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28.6 138695 chr4 100869643 100869643 C T rs371942491 H2AZ1 Synonymous SNV K121K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 138696 chr15 71125358 71125358 G A rs139275643 LARP6 Nonsynonymous SNV T170I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 138697 chr4 72352672 72352672 C T rs754060496 SLC4A4 Synonymous SNV I593I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 138698 chr3 52858016 52858016 C T rs374402919 ITIH4 Synonymous SNV E392E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.3 138699 chr4 520949 520949 G A rs34916638 PIGG Nonsynonymous SNV V598I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 21.5 138700 chr4 54362456 54362456 G A rs149959711 LNX1 Nonsynonymous SNV R266C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 138701 chr4 10447817 10447817 G C rs555098704 ZNF518B Nonsynonymous SNV Q46E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 138702 chr4 73986010 73986010 C T rs139894750 ANKRD17 Synonymous SNV A1047A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.57 138703 chr4 154315481 154315481 G A MND1 Nonsynonymous SNV C115Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 138704 chr15 89450538 89450538 C T rs377045000 MFGE8 Nonsynonymous SNV R48H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.922 138705 chr10 50916504 50916504 G C rs145486829 C10orf53 Nonsynonymous SNV L105F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.019 138706 chr15 77472407 77472407 T C rs768086297 PEAK1 Nonsynonymous SNV K621R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 138707 chr3 69230407 69230407 G C rs199706552 FRMD4B Nonsynonymous SNV Q832E 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 23.1 138708 chr4 159636487 159636487 G A rs17843932 PPID Synonymous SNV N238N 0.002 0.003 0.003 0 2 1 0 1 1 0 0 0 10.97 138709 chr10 63850661 63850661 G A rs41274054 ARID5B Nonsynonymous SNV S237N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.275 138710 chr10 69948716 69948716 T C MYPN Synonymous SNV L920L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.494 138711 chr10 70196927 70196927 T C rs373356590 DNA2 Nonsynonymous SNV Y496C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 138712 chr4 675762 675762 C T rs146961665 MYL5, SLC49A3 Synonymous SNV H167H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.03 138713 chr15 83332640 83332640 G A rs143109436 AP3B2 Synonymous SNV S732S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.818 138714 chr4 83719670 83719670 G A rs765785843 SCD5 Synonymous SNV D7D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 138715 chr3 97888141 97888141 T C rs147066998 OR5H15 Nonsynonymous SNV F200L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 14.75 138716 chr15 83455526 83455526 T C rs375365547 FSD2 Nonsynonymous SNV N206S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 138717 chr15 83455845 83455845 C T rs181504252 FSD2 Nonsynonymous SNV V100I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 138718 chr4 170057574 170057574 G A rs201900968 SH3RF1 Synonymous SNV R321R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.36 138719 chr15 93616255 93616255 C T rs758296561 RGMA Nonsynonymous SNV R15K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 138720 chr4 70460944 70460944 C A rs146912371 UGT2A1, UGT2A2 Nonsynonymous SNV K305N 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 Likely benign 13.98 138721 chr15 95013584 95013588 TTCCT - rs760628997 MCTP2 L741Ifs*30 0 0.003 0 0 0 1 0 0 0 0 0 0 138722 chr10 72324213 72324213 G T rs138666185 PALD1 Nonsynonymous SNV A786S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 138723 chr10 72503422 72503422 G A rs145573606 ADAMTS14 Synonymous SNV A681A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 138724 chr4 8608506 8608506 C T rs146935182 CPZ Stop gain Q306X 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 40 138725 chr4 87028403 87028403 G A rs28760360 MAPK10 Synonymous SNV V113V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 11.1 138726 chr4 74353537 74353537 A T AFM Nonsynonymous SNV I238L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.07 138727 chr4 87967996 87967996 T C rs200059425 AFF1 Synonymous SNV P96P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.046 138728 chr4 88091650 88091650 T G KLHL8 Synonymous SNV T259T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.442 138729 chr4 88372863 88372863 A T NUDT9 Nonsynonymous SNV K223N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.13 138730 chr4 88766285 88766285 T C rs372153135 MEPE Nonsynonymous SNV Y89H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.788 138731 chr14 30066847 30066847 G A rs771765508 PRKD1 Nonsynonymous SNV R762C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 138732 chr4 79295319 79295319 A C rs201252328 FRAS1 Nonsynonymous SNV K1022T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 13.75 138733 chr4 79385647 79385647 C T rs150936204 FRAS1 Synonymous SNV P2313P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 13.5 138734 chr4 79403088 79403088 G A rs201745281 FRAS1 Synonymous SNV K2858K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 6.844 138735 chr15 90176398 90176398 A G rs927320562 KIF7 Nonsynonymous SNV S898P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 138736 chr4 79421055 79421055 G A rs149692526 FRAS1 Nonsynonymous SNV R3099Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 27.3 138737 chr4 79428704 79428704 C T rs150680111 FRAS1 Nonsynonymous SNV T3149M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 29.1 138738 chr10 86018385 86018385 G A rs768395760 RGR Nonsynonymous SNV R251Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.45 138739 chr16 1129855 1129855 C A rs541031900 SSTR5 Nonsynonymous SNV D329E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.839 138740 chr15 90771138 90771138 G A rs922096244 SEMA4B Nonsynonymous SNV E455K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.406 138741 chr15 91172732 91172732 A T rs1033334169 CRTC3 Nonsynonymous SNV T412S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 138742 chr4 2200366 2200366 G A rs140869775 POLN Nonsynonymous SNV P265S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 138743 chr10 94333747 94333747 G A rs554481643 IDE Synonymous SNV H10H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 1.143 138744 chr4 860204 860204 C T rs147912680 GAK Synonymous SNV P918P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.44 138745 chr15 99454613 99454613 G A rs33958176 IGF1R Nonsynonymous SNV R511Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 138746 chr4 123665061 123665061 G A rs140895713 BBS12 Nonsynonymous SNV A672T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign 33 138747 chr15 99544427 99544427 G A rs187365595 PGPEP1L Nonsynonymous SNV R4W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.3 138748 chr10 96824597 96824597 A T rs201045618 CYP2C8 Nonsynonymous SNV F99Y 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 138749 chr4 125590844 125590844 T A rs139202658 ANKRD50 Synonymous SNV S1017S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 9.085 138750 chr4 126241720 126241720 T C rs139883132 FAT4 Nonsynonymous SNV L1385S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign/Likely benign 20.7 138751 chr5 123983778 123983778 C T rs138191554 ZNF608 Nonsynonymous SNV G767R 0.004 0 0 0 5 0 0 0 1 0 0 0 27.2 138752 chr10 98145890 98145890 G C TLL2 Nonsynonymous SNV N645K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 138753 chr4 129925010 129925010 A T rs115856712 SCLT1 Nonsynonymous SNV D104E 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Benign 7.515 138754 chr16 319323 319323 G A RGS11 Nonsynonymous SNV T266I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.74 138755 chr5 132224834 132224834 G A rs200457433 AFF4 Nonsynonymous SNV P890L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 25.2 138756 chr5 132435253 132435253 C G rs61755723 HSPA4 Nonsynonymous SNV T649S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 20.5 138757 chr4 38799517 38799517 G A rs748263847 TLR1 Synonymous SNV F312F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.529 138758 chr11 1016825 1016825 G A rs775937889 MUC6 Synonymous SNV T1992T 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 1.975 138759 chr4 148560169 148560169 T G PRMT9 Nonsynonymous SNV E450A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 138760 chr5 133534779 133534779 A G PPP2CA Synonymous SNV S220S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 138761 chr5 133702056 133702056 A - rs750391260 CDKL3 Stop gain L54* 0.001 0 0 0 1 0 0 0 0 0 0 0 138762 chr16 837372 837372 G A rs746041772 RPUSD1 Synonymous SNV T96T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.918 138763 chr16 4496909 4496909 G A rs150596934 DNAJA3 Nonsynonymous SNV R187Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 138764 chr16 4558016 4558016 G C HMOX2 Nonsynonymous SNV K140N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 138765 chr5 138456843 138456843 T G rs146539320 SIL1 Nonsynonymous SNV N42T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.81 138766 chr14 68241798 68241798 T A rs1009235037 ZFYVE26 Nonsynonymous SNV Q1752L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 138767 chr4 155410929 155410929 G A rs368624067 DCHS2 Nonsynonymous SNV L527F 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 23.8 138768 chr16 1537323 1537323 C T PTX4 Nonsynonymous SNV G259R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 138769 chr4 48854038 48854038 G A rs202110249 OCIAD1-AS1, OCIAD1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.88 138770 chr5 118468973 118468973 A G rs753615789 DMXL1 Nonsynonymous SNV K488E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 138771 chr4 48990682 48990682 A G rs77901175 CWH43 Nonsynonymous SNV I51V 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 0.001 138772 chr4 48996696 48996696 C G CWH43 Nonsynonymous SNV S164C 0 0.003 0 0 0 1 0 0 0 0 0 0 2.023 138773 chr4 52862136 52862136 C A rs74610609 LRRC66 Nonsynonymous SNV R351L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 12.53 138774 chr4 52883331 52883331 A C rs76514252 LRRC66 Nonsynonymous SNV L150R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24.4 138775 chr5 121759068 121759068 C T rs56331004 SNCAIP Synonymous SNV P212P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 7.752 138776 chr4 266337 266337 A G rs782277415 ZNF732 Synonymous SNV Y103Y 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.009 138777 chr16 1841496 1841496 C T rs201622145 IGFALS Nonsynonymous SNV R346H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 138778 chr4 2896416 2896416 C T rs770574567 ADD1 Synonymous SNV D233D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.77 138779 chr5 140572809 140572809 A G rs201190122 PCDHB10 Synonymous SNV V228V 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.084 138780 chr16 14761650 14761650 A G BFAR Nonsynonymous SNV K315R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.78 138781 chr5 140480324 140480324 A G PCDHB3 Nonsynonymous SNV R31G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.061 138782 chr16 2350115 2350115 G T rs141621969 ABCA3 Nonsynonymous SNV A501E 0.004 0.016 0.007 2 5 6 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 138783 chr5 140573066 140573066 C T rs782399537 PCDHB10 Nonsynonymous SNV S314F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 138784 chr16 3118240 3118240 A G rs140322567 IL32 Synonymous SNV P58P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.148 138785 chr16 23536448 23536448 T A EARS2 X535C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.08 138786 chr5 145895605 145895605 G A rs766394900 GPR151 Synonymous SNV A24A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.57 138787 chr4 47954625 47954625 G A rs199636364 CNGA1 Stop gain R101X 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Pathogenic 34 138788 chr16 4812594 4812594 G A rs767487766 ZNF500 Nonsynonymous SNV P193L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 138789 chr5 149751653 149751653 C T rs766981672 TCOF1 Nonsynonymous SNV P242S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 138790 chr16 29810009 29810009 G A rs200923972 KIF22 Nonsynonymous SNV E96K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.2 138791 chr16 29821429 29821429 - GCGGCAGCG rs751657896 MAZ A143_V144insAAA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 138792 chr16 29821441 29821441 - GCAGCGGCA rs753879391 MAZ A143_V144insAAA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 138793 chr5 149502730 149502730 G A rs753622898 PDGFRB Synonymous SNV Y622Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.02 138794 chr4 187628027 187628027 G A rs200907501 FAT1 Synonymous SNV I985I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 6.999 138795 chr4 7436319 7436319 C A rs764571142 PSAPL1 Nonsynonymous SNV E96D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.055 138796 chr4 187629093 187629093 A G rs199900333 FAT1 Nonsynonymous SNV L630P 0 0.008 0 1 0 3 0.003 0 0 0 0 0 23.4 138797 chr5 150945518 150945518 C T rs3734056 FAT2 Nonsynonymous SNV R992Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 138798 chr16 31091287 31091287 C T rs142883444 ZNF646 Synonymous SNV H1214H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.2 138799 chr14 96795918 96795918 G A rs201727567 ATG2B Nonsynonymous SNV S595F 0.012 0.01 0 0 14 4 0 0 0 0 0 0 9.103 138800 chr4 6293077 6293077 G A WFS1 Nonsynonymous SNV G205D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13 138801 chr11 120346170 120346170 C T rs150472234 ARHGEF12 Synonymous SNV S1058S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.54 138802 chr11 120831732 120831732 C T rs151265599 GRIK4 Synonymous SNV T663T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.63 138803 chr4 6302675 6302675 G A rs71524353 WFS1 Nonsynonymous SNV E385K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 138804 chr16 48278467 48278467 C T rs549208458 LONP2 Synonymous SNV I56I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.75 138805 chr5 140789101 140789101 C A rs774144232 PCDHGB6 Nonsynonymous SNV D444E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 138806 chr16 50324504 50324504 G A rs199775238 ADCY7 Nonsynonymous SNV C103Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 138807 chr16 52092279 52092279 C G C16orf97 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 138808 chr5 141520142 141520142 C T rs149477556 NDFIP1 Synonymous SNV F170F 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 16.88 138809 chr4 8416589 8416589 T C rs114127771 ACOX3 Nonsynonymous SNV R149G 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 5.585 138810 chr5 145613171 145613194 CCAGGTCCAGGCCCAGGCCCGGGC - rs773842644 RBM27 P351_G358del 0.001 0 0 0 1 0 0 0 0 0 0 0 138811 chr5 146703631 146703631 A G STK32A Nonsynonymous SNV H144R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 138812 chr4 85731131 85731131 C T WDFY3 Nonsynonymous SNV V752I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 138813 chr11 123988952 123988952 G A rs762398234 VWA5A Synonymous SNV E101E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.956 138814 chr4 72629139 72629139 C T rs111261486 GC Synonymous SNV K229K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 15.89 138815 chr5 170626768 170626768 A G RANBP17 Synonymous SNV E711E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.252 138816 chr16 57758540 57758540 G T DRC7 Nonsynonymous SNV K452N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 138817 chr4 88036180 88036180 G A rs760180017 AFF1 Nonsynonymous SNV R363H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 138818 chr16 28925847 28925847 C T RABEP2 Nonsynonymous SNV D202N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 138819 chr16 30078933 30078933 G A rs747482925 ALDOA Nonsynonymous SNV R92H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 138820 chr11 125703262 125703262 A G PATE4 Nonsynonymous SNV K3R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 138821 chr4 4269672 4269672 T G rs35659581 LYAR Nonsynonymous SNV I362L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.13 138822 chr4 91230020 91230020 T C rs1017686730 CCSER1 Synonymous SNV V195V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.006 138823 chr4 436790 436790 G C rs781908325 ZNF721 Nonsynonymous SNV A489G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.318 138824 chr16 31121730 31121730 G C rs774214869 BCKDK Nonsynonymous SNV K184N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 138825 chr16 31139413 31139413 C T rs534168969 KAT8 Nonsynonymous SNV R242C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 138826 chr16 31475835 31475835 G A rs767370525 ARMC5 Synonymous SNV S497S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 8.158 138827 chr11 129825449 129825449 G A rs74759622 PRDM10 Synonymous SNV P84P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 138828 chr16 46755060 46755060 T C rs145986736 MYLK3 Nonsynonymous SNV I313V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 138829 chr5 179193548 179193548 G A rs145980075 MAML1 Nonsynonymous SNV G513S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.8 138830 chr11 1651232 1651232 - TGTGGCTCCGGCTGTGGGGGCTGTGGCTCTGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGA KRTAP5-5 G56_G57insSGCGGCGSGCGGCGSGCGGCG 0.003 0.008 0.003 8 4 3 0.021 1 0 0 0 2 138831 chr16 77327136 77327136 C T rs142167857 ADAMTS18 Nonsynonymous SNV R837Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.7 138832 chr5 180661479 180661484 CGCCGC - TRIM41 R535_R536del 0.002 0 0 0 2 0 0 0 0 0 0 0 138833 chr5 180661648 180661648 G A rs140067593 TRIM41 Nonsynonymous SNV R589H 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 14.93 138834 chr4 870925 870925 C T rs145777066 GAK Nonsynonymous SNV V564I 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 1.306 138835 chr5 31431690 31431690 C G rs768254802 DROSHA Synonymous SNV A1009A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 138836 chr16 67000723 67000723 C T rs200056024 CES3 Synonymous SNV F339F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.55 138837 chr11 19251160 19251160 C A rs374395103 E2F8 Nonsynonymous SNV R578S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.763 138838 chr16 67322096 67322096 G A rs200288077 PLEKHG4 Nonsynonymous SNV V1002I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.8 138839 chr4 95578650 95578650 C T rs148939806 PDLIM5 Nonsynonymous SNV R188W 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 35 138840 chr11 2017762 2017762 C T rs377448027 H19 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 138841 chr5 132199919 132199919 G A rs61754583 GDF9 Nonsynonymous SNV P103S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 23.9 138842 chr5 434284 434284 C T rs147880563 AHRR Nonsynonymous SNV H481Y 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Benign 3.573 138843 chr16 72828162 72828162 C T rs755569664 ZFHX3 Nonsynonymous SNV V1893M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 138844 chr11 26547222 26547222 G A rs771596676 ANO3 Nonsynonymous SNV G99S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 138845 chr15 48704891 48704891 C G FBN1 Nonsynonymous SNV V2701L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 138846 chr16 75654542 75654542 A G ADAT1 Synonymous SNV D52D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.303 138847 chr5 114515694 114515694 A G TRIM36 Nonsynonymous SNV M14T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 138848 chr5 1878430 1878430 C A rs754606404 IRX4 Nonsynonymous SNV A405S 0.003 0 0 0 4 0 0 0 1 0 0 0 0.056 138849 chr5 191711 191711 C T rs200206960 LRRC14B Stop gain Q20X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 138850 chr5 140802454 140802454 C G PCDHGA11 Nonsynonymous SNV L554V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.43 138851 chr5 64887614 64887614 T C rs61748229 TRIM23 Synonymous SNV G569G 0.008 0.013 0.007 1 9 5 0.003 2 0 0 0 0 0.192 138852 chr11 377195 377195 T C rs144514720 B4GALNT4 Nonsynonymous SNV V691A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 138853 chr5 32387697 32387697 T C rs202061143 ZFR Synonymous SNV T819T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.135 138854 chr5 33937759 33937759 G A rs145701684 RXFP3 Nonsynonymous SNV G305E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.34 138855 chr11 408802 408802 C T rs148117689 SIGIRR Synonymous SNV T33T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 10.65 138856 chr16 89265864 89265864 G A rs764178088 SLC22A31 Synonymous SNV H62H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.885 138857 chr5 130766622 130766622 G T rs34020762 RAPGEF6 Synonymous SNV G1465G 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Benign 0.126 138858 chr16 84695587 84695587 G T rs546365572 KLHL36 Nonsynonymous SNV V504L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.81 138859 chr16 90106653 90106653 C T rs78701482 URAHP 0 0.005 0 0 0 2 0 0 0 0 0 0 0.174 138860 chr5 71489695 71489695 C T rs2227915 MAP1B Synonymous SNV I45I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.673 138861 chr17 181619 181619 G A rs9891301 LOC100506388 0 0.005 0 0 0 2 0 0 0 0 0 0 3.028 138862 chr5 71491864 71491864 G A rs2227916 MAP1B Synonymous SNV E768E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.53 138863 chr5 71492659 71492659 C T rs183960902 MAP1B Synonymous SNV F1033F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.66 138864 chr11 46567295 46567295 T C AMBRA1 Nonsynonymous SNV N137S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 138865 chr5 72868322 72868322 T C rs16870608 UTP15 Nonsynonymous SNV Y38H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.85 138866 chr5 72868357 72868357 A G rs16870609 UTP15 Synonymous SNV Q49Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.71 138867 chr5 73109428 73109428 C T rs78818982 ARHGEF28 Synonymous SNV S5S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.46 138868 chr4 944996 944996 T C rs201152629 TMEM175 Synonymous SNV L16L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.197 138869 chr5 137520612 137520612 G C rs201044865 KIF20A Nonsynonymous SNV M600I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.94 138870 chr5 75581068 75581068 C T rs149463986 SV2C Nonsynonymous SNV S332F 0.008 0.013 0 3 9 5 0.008 0 0 0 0 0 16.03 138871 chr5 74034229 74034229 G A rs142425196 GFM2 Nonsynonymous SNV R365C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 138872 chr11 47861943 47861943 C T rs367769746 NUP160 Nonsynonymous SNV R171Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 138873 chr5 13867920 13867920 A C rs367816483 DNAH5 Nonsynonymous SNV L1339R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23 138874 chr4 983815 983815 G A rs542866310 SLC26A1 Synonymous SNV L304L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.125 138875 chr5 74886176 74886176 A C rs35257416 POLK Nonsynonymous SNV S357R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 138876 chr5 150227778 150227778 G A rs917185507 IRGM Synonymous SNV R31R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.784 138877 chr5 139906014 139906014 C A rs61758139 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV S1642S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.812 138878 chr15 69561180 69561180 A G rs370173373 GLCE Nonsynonymous SNV H227R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 138879 chr5 52096705 52096705 T G PELO Synonymous SNV T159T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.973 138880 chr16 88793280 88793280 C T rs867599439 PIEZO1 Nonsynonymous SNV R1181H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 138881 chr15 72195402 72195402 A T rs757960851 MYO9A Nonsynonymous SNV D960E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.96 138882 chr16 88880898 88880898 C G GALNS Nonsynonymous SNV K321N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 138883 chr16 89661877 89661877 A G rs763575777 CPNE7 Nonsynonymous SNV I469V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 138884 chr5 140725890 140725890 C A rs370925586 PCDHGA3 Synonymous SNV R764R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 21.1 138885 chr5 56219412 56219412 G A rs146260337 MIER3 Nonsynonymous SNV A404V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 34 138886 chr5 619207 619207 C T rs370257753 CEP72 Nonsynonymous SNV S62L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 138887 chr5 624588 624588 G A rs199576925 CEP72 Nonsynonymous SNV D136N 0.003 0 0 0 4 0 0 0 1 0 0 0 18.24 138888 chr5 156747703 156747703 G A CYFIP2 Nonsynonymous SNV G496R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.5 138889 chr5 9154647 9154647 G A SEMA5A Synonymous SNV H478H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.923 138890 chr17 4843154 4843154 T A SLC25A11 Nonsynonymous SNV T18S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.15 138891 chr15 78567957 78567957 G A rs202103276 DNAJA4 Nonsynonymous SNV R255Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 138892 chr5 94764395 94764395 G A rs150926447 FAM81B Nonsynonymous SNV V249M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.032 138893 chr5 64868000 64868000 G A rs150307628 PPWD1 Nonsynonymous SNV V130I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.8 138894 chr5 141021110 141021110 C T rs189623370 FCHSD1 Synonymous SNV P676P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 18.68 138895 chr5 94956684 94956684 C T GPR150 Synonymous SNV Y235Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.49 138896 chr17 7077742 7077742 C T rs34809354 ASGR1 Synonymous SNV V92V 0.003 0.005 0.007 0 3 2 0 2 0 1 0 0 18.86 138897 chr17 1960939 1960939 C G rs373870177 HIC1 Nonsynonymous SNV L338V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 138898 chr5 145979904 145979904 C T rs369931023 PPP2R2B Nonsynonymous SNV V307I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 138899 chr6 106960157 106960157 C G CRYBG1 Nonsynonymous SNV Q389E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 138900 chr6 106992539 106992539 T A rs144800958 CRYBG1 Nonsynonymous SNV N1303K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 138901 chr5 173317119 173317119 A G rs972076442 CPEB4 Nonsynonymous SNV N128S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.087 138902 chr6 106555199 106555199 G C PRDM1 Synonymous SNV L638L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.481 138903 chr6 107100212 107100212 T G rs144555270 QRSL1 Nonsynonymous SNV V229G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.8 138904 chr5 176814834 176814834 G A rs146919762 SLC34A1 Nonsynonymous SNV V202M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 28 138905 chr17 7950034 7950034 C T rs61730345 ALOX15B Nonsynonymous SNV R417W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.5 138906 chr6 109690073 109690073 C T rs62436104 CD164 Nonsynonymous SNV R179Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.4 138907 chr5 138729296 138729296 G C rs111342748 PROB1 Nonsynonymous SNV P492R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.01 138908 chr5 79616059 79616059 G A rs56226654 SPZ1 Nonsynonymous SNV E9K 0.008 0.01 0.007 5 9 4 0.013 2 0 0 0 0 7.941 138909 chr17 8157288 8157288 C G rs150944821 PFAS Synonymous SNV P11P 0 0.005 0 0 0 2 0 0 0 0 0 0 12.74 138910 chr17 4594704 4594704 T C rs756177334 PELP1 Nonsynonymous SNV S95G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 138911 chr5 150867611 150867611 C T rs148310645 SLC36A1 Synonymous SNV S409S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.98 138912 chr6 111587850 111587850 C T MFSD4B Nonsynonymous SNV A362V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 26.6 138913 chr6 117631414 117631414 G A rs758255859 ROS1 Synonymous SNV S2088S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.34 138914 chr6 117662682 117662682 A G rs3752564 ROS1 Synonymous SNV L1595L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.587 138915 chr5 150947252 150947252 A C rs143809308 FAT2 Nonsynonymous SNV L414W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.7 138916 chr17 11461229 11461229 G A rs779029422 SHISA6 Nonsynonymous SNV V371I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 138917 chr6 117650532 117650532 C G rs12664076 ROS1 Nonsynonymous SNV D1776H 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign 30 138918 chr6 117859811 117859811 T C rs199683539 DCBLD1 Synonymous SNV P263P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.516 138919 chr6 118014295 118014295 C G rs150646335 NUS1 Nonsynonymous SNV P169R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 19.26 138920 chr5 140793140 140793140 A G rs375156046 PCDHGA10 Nonsynonymous SNV N133S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 138921 chr6 132910357 132910357 C A rs142216705 TAAR5 Nonsynonymous SNV A157S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.9 138922 chr5 141694458 141694458 T C rs764379013 SPRY4 Synonymous SNV P72P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.153 138923 chr5 167857225 167857225 A G rs61740510 WWC1 Nonsynonymous SNV K695R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 138924 chr5 167943795 167943795 G A rs11557638 RARS1 Nonsynonymous SNV E489K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 138925 chr6 129674386 129674386 C T rs917205971 LAMA2 Nonsynonymous SNV S1534L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 138926 chr6 138645188 138645188 C T rs368323145 ARFGEF3 Nonsynonymous SNV T1633M 0.002 0.008 0 0 2 3 0 0 0 0 0 0 28.6 138927 chr17 7835091 7835091 G A rs376766002 TRAPPC1 Synonymous SNV S19S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 138928 chr6 130370944 130370944 C T rs148344476 L3MBTL3 Synonymous SNV A86A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 138929 chr15 100230603 100230603 C T rs369552532 MEF2A Synonymous SNV P208P 0.003 0.018 0.003 0 3 7 0 1 0 0 0 0 14.73 138930 chr17 8011844 8011844 C T rs139454209 ALOXE3 Synonymous SNV E541E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.56 138931 chr6 131996327 131996327 C T rs142885538 ENPP3 Synonymous SNV N290N 0.002 0 0 0 2 0 0 0 0 0 0 0 2.545 138932 chr5 149206391 149206391 C G rs147532359 PPARGC1B Synonymous SNV P136P 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 Benign 5.832 138933 chr5 41161898 41161898 C T rs142896559 C6 Nonsynonymous SNV G452E 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 Likely benign 23.6 138934 chr6 136564034 136564034 C T rs146917381 MTFR2 Synonymous SNV V82V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 138935 chr6 11190203 11190203 G A rs146864079 NEDD9 Synonymous SNV H484H 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Benign 1.759 138936 chr17 8296330 8296331 AA - RNF222 F150Cfs*81 0.001 0 0 0 1 0 0 0 0 0 0 0 138937 chr15 102264574 102264574 A G rs759100759 TARS3 Nonsynonymous SNV L6P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 138938 chr11 57258731 57258731 C T rs114947771 SLC43A1 Nonsynonymous SNV A387T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 16.16 138939 chr17 10243471 10243471 A G rs141039502 MYH13 Synonymous SNV T684T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.464 138940 chr6 119137423 119137423 G A rs75607191 MCM9 Nonsynonymous SNV R666W 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 21.3 138941 chr6 119324762 119324762 T C FAM184A Nonsynonymous SNV Q494R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 138942 chr6 149395126 149395126 G A rs143470727 UST Synonymous SNV K365K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 138943 chr11 58274954 58274954 G A rs147585672 OR5B21 Synonymous SNV L209L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 6.001 138944 chr16 790973 790973 A G CIAO3 Nonsynonymous SNV F5L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 138945 chr17 27493528 27493528 C T rs774799161 MYO18A Nonsynonymous SNV R144H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 138946 chr17 11622729 11622729 C T rs61739488 DNAH9 Synonymous SNV T1877T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.098 138947 chr11 58980312 58980312 G A MPEG1 Synonymous SNV L9L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.776 138948 chr16 1252341 1252341 G A rs369898856 CACNA1H Nonsynonymous SNV G631R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 0.359 138949 chr17 29151622 29151622 G A rs185909419 CRLF3 Synonymous SNV A16A 0 0.003 0 0 0 1 0 0 0 0 0 0 13 138950 chr17 31091951 31091951 A G MYO1D Nonsynonymous SNV I327T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 138951 chr5 64267585 64267585 G A rs143676351 CWC27 Synonymous SNV K366K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.14 138952 chr6 157803099 157803099 C G rs147903574 ZDHHC14 Nonsynonymous SNV Q16E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.55 138953 chr19 51162273 51162273 G A rs759774250 C19orf81 Synonymous SNV G157G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 138954 chr17 18220746 18220746 C T rs118016155 SMCR8 Nonsynonymous SNV P548L 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 2.863 138955 chr17 18769210 18769210 T G rs143345926 PRPSAP2 Nonsynonymous SNV L22V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.403 138956 chr6 138655451 138655451 G A rs376588446 ARFGEF3 Nonsynonymous SNV C1823Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 138957 chr17 35914033 35914033 C T SYNRG Nonsynonymous SNV G437R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 138958 chr6 139266719 139266719 G A rs368324679 REPS1 Synonymous SNV P131P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.76 138959 chr17 36485772 36485772 T C rs138451517 GPR179 Nonsynonymous SNV K1227R 0.009 0.013 0.003 8 10 5 0.021 1 0 0 0 1 Benign 0.016 138960 chr17 36499016 36499016 T A rs116896787 GPR179 Synonymous SNV G219G 0.01 0.003 0 1 12 1 0.003 0 0 0 0 0 Likely benign 0.298 138961 chr6 160200261 160200261 C T rs751780541 TCP1 Nonsynonymous SNV R341Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 138962 chr6 142688817 142688817 G A rs192254609 ADGRG6 Nonsynonymous SNV R72Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.9 138963 chr6 160468295 160468295 G C rs151323353 IGF2R Nonsynonymous SNV R719T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.076 138964 chr11 62287758 62287758 T A rs144063659 AHNAK Nonsynonymous SNV M4711L 0.003 0 0.014 0 3 0 0 4 0 0 0 0 14.83 138965 chr6 166902346 166902346 G A rs140122356 RPS6KA2 Synonymous SNV F196F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.38 138966 chr5 5182229 5182229 G A rs757927637 ADAMTS16 Nonsynonymous SNV G192S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.216 138967 chr11 62559405 62559405 G A rs201573295 TMEM223 Nonsynonymous SNV T21I 0.004 0 0.02 2 5 0 0.005 6 0 0 1 0 0.027 138968 chr11 62599732 62599732 C T rs2282538 LOC105369332 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 138969 chr17 38928346 38928346 C T rs1033743392 KRT26 Nonsynonymous SNV G7D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 7.79 138970 chr11 62863503 62863503 G A rs754245809 SLC22A24 Nonsynonymous SNV P344S 0 0 0.007 3 0 0 0.008 2 0 0 0 0 23.8 138971 chr17 26671614 26671614 C T rs145418568 TNFAIP1 Synonymous SNV T313T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.577 138972 chr6 167753739 167753739 C T rs138292968 TTLL2 Synonymous SNV N117N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 6.707 138973 chr17 39186201 39186201 C T KRTAP1-4 Nonsynonymous SNV G44S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.002 138974 chr11 6422240 6422240 C T rs140731057 APBB1 Nonsynonymous SNV V331I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 138975 chr11 64658348 64658348 C G rs7949887 MIR194-2HG 0 0 0.007 0 0 0 0 2 0 0 1 0 5.809 138976 chr5 70837402 70837402 T A rs191238264 BDP1 Synonymous SNV T2048T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.127 138977 chr11 64863754 64863754 C T rs747134833 VPS51 Nonsynonymous SNV P11L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 138978 chr11 64898229 64898229 T C rs111304413 SYVN1 Synonymous SNV A336A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 5.862 138979 chr11 64948409 64948409 C T rs112366910 LOC728975 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 138980 chr5 24491740 24491740 G A rs150595829 CDH10 Synonymous SNV A13A 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 12.92 138981 chr11 64976859 64976859 G A CAPN1 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 138982 chr5 72858596 72858596 G A rs149372439 ANKRA2 Synonymous SNV D37D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.856 138983 chr17 39727855 39727855 C T rs1025055149 KRT9 Synonymous SNV G130G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.375 138984 chr6 26056252 26056252 G C rs373586551 H1-2 Synonymous SNV A135A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 138985 chr17 36487138 36487138 G A GPR179 Nonsynonymous SNV R772C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 138986 chr6 26189244 26189244 T C H4C4 Nonsynonymous SNV K21E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 138987 chr5 74639711 74639711 A G HMGCR Nonsynonymous SNV I67V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.98 138988 chr17 36533613 36533613 C T rs147043285 SOCS7 Synonymous SNV A542A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 138989 chr6 26502106 26502106 C T rs142727954 BTN1A1 Nonsynonymous SNV T123M 0.005 0 0 0 6 0 0 0 0 0 0 0 22.8 138990 chr6 160453648 160453648 T C rs769634271 IGF2R Synonymous SNV Y316Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.77 138991 chr6 27114943 27114943 C T rs140473596 H2AC12 Synonymous SNV R12R 0.005 0 0 0 6 0 0 0 0 0 0 0 11.4 138992 chr6 27215719 27215719 G A rs145018357 PRSS16 Synonymous SNV Q43Q 0.005 0 0 0 6 0 0 0 0 0 0 0 1.502 138993 chr6 2959440 2959440 T A SERPINB6 Nonsynonymous SNV M57L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.053 138994 chr6 28219404 28219404 C T rs199868712 ZKSCAN4 Nonsynonymous SNV E119K 0.005 0 0 0 6 0 0 0 0 0 0 0 28.3 138995 chr6 161022030 161022030 G A rs142344792 LPA Stop gain R1016X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 138996 chr17 42767113 42767113 C T rs766825168 CCDC43 Synonymous SNV A3A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 138997 chr11 66358631 66358633 TCT - rs535066162 CCDC87 E619del 0 0 0.007 0 0 0 0 2 0 0 0 0 138998 chr11 6643448 6643448 G A rs145042783 DCHS1 Synonymous SNV G3153G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.254 138999 chr11 66472687 66472687 C T rs748705169 SPTBN2 Nonsynonymous SNV R687Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 139000 chr11 67059605 67059605 C T rs538215995 ANKRD13D Nonsynonymous SNV P229S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 139001 chr6 34985393 34985393 G C rs755087986 ANKS1A Nonsynonymous SNV A523P 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 0.189 139002 chr17 45517840 45517840 C T rs200910398 EFCAB13 Synonymous SNV S894S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 9.223 139003 chr5 82833368 82833368 A G rs144610900 VCAN Nonsynonymous SNV K529E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.095 139004 chr5 82836565 82836565 T C rs75771891 VCAN Synonymous SNV D1594D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.134 139005 chr5 865599 865599 G A rs372573589 BRD9 Synonymous SNV R488R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.916 139006 chr17 39197477 39197477 G C rs149188249 KRTAP1-1 Nonsynonymous SNV P58R 0.002 0 0 4 2 0 0.01 0 0 0 0 0 23.6 139007 chr6 170176623 170176623 A G ERMARD Synonymous SNV E405E 0.004 0 0 0 5 0 0 0 0 0 0 0 1.926 139008 chr6 116752157 116752157 G C rs140034597 DSE Synonymous SNV L237L 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 Benign/Likely benign 6.673 139009 chr16 24800982 24800982 A G rs148126382 TNRC6A Nonsynonymous SNV N340S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.403 139010 chr17 39465245 39465245 G A rs994003903 KRTAP16-1 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.021 139011 chr17 48628433 48628433 T C rs1017805337 SPATA20 Synonymous SNV F470F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.848 139012 chr6 38370661 38370661 T C rs141486448 BTBD9 Synonymous SNV L332L 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 0.501 139013 chr6 4069499 4069499 G A rs140720318 FAM217A Stop gain R320X 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 35 139014 chr6 126288109 126288109 T C rs114751741 HINT3 Nonsynonymous SNV I93T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 139015 chr6 127611133 127611136 AACA - rs778587969 ECHDC1 C187Qfs*18 0 0.003 0 0 0 1 0 0 0 0 0 0 139016 chr6 41309740 41309740 C T rs373814560 NCR2 Nonsynonymous SNV P178L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 139017 chr6 41562717 41562717 C T rs755695040 FOXP4 Nonsynonymous SNV P549L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 139018 chr17 59489469 59489469 G A rs150535090 C17orf82 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.28 139019 chr11 74347298 74347298 C T rs146958870 POLD3 Synonymous SNV Y353Y 0 0.003 0.01 0 0 1 0 3 0 0 0 0 0.887 139020 chr11 74347299 74347299 C G rs147578662 POLD3 Nonsynonymous SNV L354V 0 0.003 0.01 0 0 1 0 3 0 0 0 0 0.002 139021 chr17 60767078 60767078 G A rs143651722 MRC2 Nonsynonymous SNV R1177Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.85 139022 chr6 34802110 34802110 G T rs35356162 UHRF1BP1 Nonsynonymous SNV G152V 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Benign 23.5 139023 chr6 43323421 43323421 C T rs541975861 ZNF318 Nonsynonymous SNV V551I 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.762 139024 chr11 76883811 76883811 G A MYO7A Synonymous SNV K605K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 139025 chr17 63685312 63685312 G A rs754868734 CEP112 Nonsynonymous SNV R134C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 139026 chr17 42248239 42248239 C A rs144229400 ASB16 Synonymous SNV R28R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19.79 139027 chr17 42828469 42828469 C - DBF4B I567Ffs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 139028 chr6 143074516 143074516 G A rs199935129 HIVEP2 Nonsynonymous SNV P2357S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Likely benign 0.214 139029 chr11 78449568 78449568 G C rs141706152 TENM4 Nonsynonymous SNV P935R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 27.4 139030 chr6 46797216 46797216 C T MEP1A Nonsynonymous SNV T351M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 139031 chr11 81601786 81601786 T A rs184272314 MIR4300 0 0 0.003 0 0 0 0 1 0 0 0 0 6.181 139032 chr6 39877666 39877666 G A rs148579886 MOCS1 Nonsynonymous SNV R252W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 139033 chr17 46136307 46136307 T A rs765172811 NFE2L1 Synonymous SNV A511A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.79 139034 chr6 12120713 12120713 A G rs750925254 HIVEP1 Nonsynonymous SNV T229A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 139035 chr6 42018288 42018288 C G TAF8 Nonsynonymous SNV D3E 0.001 0 0 0 1 0 0 0 0 0 0 0 34 139036 chr11 85447556 85447556 T G rs375531733 SYTL2 Nonsynonymous SNV T191P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.5 139037 chr11 86118684 86118684 G A rs546400801 CCDC81 Nonsynonymous SNV D214N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 139038 chr17 72353742 72353742 C T rs201577547 BTBD17 Nonsynonymous SNV G164E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.83 139039 chr17 72470011 72470011 C A rs368240791 CD300A Nonsynonymous SNV P126Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 29.4 139040 chr6 56035495 56035495 G A rs41271846 COL21A1 Synonymous SNV S326S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.611 139041 chr6 43306454 43306454 C T ZNF318 Nonsynonymous SNV S1761N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.336 139042 chr6 64422505 64422505 G A rs116365286 PHF3 Nonsynonymous SNV R1586Q 0.008 0.003 0.017 3 9 1 0.008 5 0 0 0 0 18.06 139043 chr6 44117619 44117619 C T rs75310630 TMEM63B Synonymous SNV F479F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.04 139044 chr6 44119604 44119604 C T rs139920210 TMEM63B Synonymous SNV N565N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 17.1 139045 chr6 135318743 135318743 C T rs370669162 HBS1L Synonymous SNV P155P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.75 139046 chr6 72968723 72968723 C T RIMS1 Nonsynonymous SNV R461C 0.005 0 0 0 6 0 0 0 0 0 0 0 35 139047 chr6 160227051 160227051 C T rs55637742 PNLDC1 Synonymous SNV D166D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.86 139048 chr17 56573049 56573049 C T rs767740282 MTMR4 Synonymous SNV P818P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.796 139049 chr11 95826371 95826371 C T rs759695866 MAML2 Nonsynonymous SNV C275Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 139050 chr6 16130806 16130806 A G MYLIP Nonsynonymous SNV I36V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 139051 chr12 100612209 100612209 T C rs371505912 ACTR6 Nonsynonymous SNV V256A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 139052 chr17 59820409 59820409 T C rs142806416 BRIP1 Nonsynonymous SNV I782V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.318 139053 chr17 74324807 74324807 C T PRPSAP1 Nonsynonymous SNV E155K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 139054 chr6 49936468 49936468 A G DEFB113 Synonymous SNV N57N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 139055 chr6 75827145 75827145 T C rs199633490 COL12A1 Nonsynonymous SNV K1327R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.1 139056 chr16 75662541 75662541 G A KARS1 Synonymous SNV L541L 0.001 0 0 0 1 0 0 0 0 0 0 0 11 139057 chr6 75975040 75975040 C T TMEM30A Nonsynonymous SNV M84I 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 24.1 139058 chr17 60749133 60749133 G A rs765335195 MRC2 Nonsynonymous SNV G414D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 139059 chr6 105572428 105572428 T C rs149944468 BVES Synonymous SNV K214K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.47 139060 chr17 61573754 61573754 G A ACE 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 139061 chr17 61895296 61895296 A G DDX42 Synonymous SNV Q785Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 139062 chr6 79918288 79918288 T G rs748450712 HMGN3 Synonymous SNV T7T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 139063 chr12 104309428 104309428 G C rs7295489 TTC41P 0 0 0.082 0 0 0 0 24 0 0 0 0 1.053 139064 chr6 83075031 83075031 C T rs148715423 TPBG Nonsynonymous SNV A118V 0.004 0 0.007 0 5 0 0 2 0 0 0 0 19.06 139065 chr17 62271155 62271155 G C rs150065693 TEX2 Nonsynonymous SNV S647C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.2 139066 chr6 84234336 84234336 T C rs143742030 PRSS35 Synonymous SNV T392T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.646 139067 chr6 56035643 56035643 A G rs2764043 COL21A1 Nonsynonymous SNV L277P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 139068 chr6 88374478 88374478 C T rs554302296 ORC3 Synonymous SNV S474S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 139069 chr6 91257028 91257028 T G rs201372555 MAP3K7 Synonymous SNV R387R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.982 139070 chr7 100028451 100028451 C G rs748546536 MEPCE Nonsynonymous SNV H270Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 139071 chr6 25826862 25826862 C A rs749192886 SLC17A1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.316 139072 chr6 74072874 74072874 G C rs762594964 KHDC3L Nonsynonymous SNV V76L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.7 139073 chr7 100231143 100231143 G A rs199819126 TFR2 Synonymous SNV A170A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.28 139074 chr7 100282971 100282971 G A rs954570771 GIGYF1 Synonymous SNV A396A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.171 139075 chr12 113710484 113710492 ACCCTTCAG - rs777710312 TPCN1 S191_P193del 0 0 0.003 0 0 0 0 1 0 0 0 0 139076 chr17 78350343 78350343 G A rs777173593 RNF213 Synonymous SNV A4476A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 139077 chr12 116429025 116429025 T C MED13L Nonsynonymous SNV Y1245C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 139078 chr12 118582477 118582477 C T rs1050625 PEBP1 Nonsynonymous SNV H145Y 0.006 0.008 0.017 10 7 3 0.026 5 0 0 0 0 Benign 22.1 139079 chr20 33173261 33173261 G A PIGU Synonymous SNV I302I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 139080 chr6 83075648 83075648 G A rs116918788 TPBG Nonsynonymous SNV A324T 0.005 0 0 0 6 0 0 0 0 0 0 0 11.71 139081 chr6 83075649 83075649 C A rs117983387 TPBG Nonsynonymous SNV A324E 0.005 0 0 0 6 0 0 0 0 0 0 0 19.96 139082 chr20 34053921 34053921 C T rs147554271 CEP250 Synonymous SNV D128D 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Likely benign 12.77 139083 chr6 84632166 84632166 A G rs141290525 CYB5R4 Nonsynonymous SNV H223R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.93 139084 chr6 135250335 135250335 T C ALDH8A1 Nonsynonymous SNV T240A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 139085 chr6 88853821 88853821 G A rs761084667 CNR1 Synonymous SNV T391T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 139086 chr12 123214179 123214179 G A rs149768068 HCAR1 Synonymous SNV S236S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.908 139087 chr6 89974167 89974167 G A rs61741842 GABRR2 Synonymous SNV T350T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.26 139088 chr6 167717572 167717572 C G UNC93A Nonsynonymous SNV P222R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 139089 chr12 123849347 123849347 - GCG rs370987290 MIR8072 0 0 0.02 0 0 0 0 6 0 0 0 0 139090 chr6 90578267 90578269 ATC - rs574796806 CASP8AP2 H1754del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 139091 chr6 35280229 35280229 C T rs773044621 DEF6 Nonsynonymous SNV R192C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 139092 chr6 96997408 96997408 G A rs147138482 UFL1 Synonymous SNV L547L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.027 139093 chr18 3129297 3129297 C T rs72860212 MYOM1 Synonymous SNV P909P 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Benign/Likely benign 7.242 139094 chr6 17764786 17764786 C G rs374013859 KIF13A Nonsynonymous SNV G1610A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 14.33 139095 chr16 88932297 88932297 G A rs372381429 PABPN1L Nonsynonymous SNV T103M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.209 139096 chr12 13028436 13028436 G A rs58970487 RPL13AP20 0 0 0.014 0 0 0 0 4 0 0 0 0 5.17 139097 chr7 100850997 100850997 C T rs139049819 PLOD3 Synonymous SNV R599R 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign 13.96 139098 chr17 77915863 77915863 C T rs141943473 TBC1D16 Nonsynonymous SNV R309Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 139099 chr20 44983832 44983832 T A SLC35C2 Nonsynonymous SNV M39L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 22.6 139100 chr17 78014024 78014024 G A rs2885349 CCDC40 Synonymous SNV S169S 0.009 0.013 0.003 1 11 5 0.003 1 0 0 0 0 Benign 8.041 139101 chr7 104782559 104782559 G A rs199752301 SRPK2 Nonsynonymous SNV S469F 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.5 139102 chr6 152640125 152640125 T C SYNE1 Nonsynonymous SNV E5350G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 22.7 139103 chr17 78120671 78120671 G A rs78918245 EIF4A3 Synonymous SNV T30T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.93 139104 chr6 27215800 27215800 C T rs140318437 PRSS16 Synonymous SNV N70N 0.007 0.005 0 0 8 2 0 0 0 0 0 0 10.68 139105 chr17 78176193 78176193 G A rs35692270 CARD14 Synonymous SNV A731A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.033 139106 chr17 78177668 78177668 G A rs34822755 CARD14 Nonsynonymous SNV C756Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.83 139107 chr17 78181988 78181988 G A rs139969019 CARD14 Synonymous SNV A953A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.727 139108 chr17 1687654 1687654 T A rs761931183 SMYD4 Nonsynonymous SNV R662S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.52 139109 chr17 78184563 78184563 G A rs371397297 SGSH Synonymous SNV D399D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.591 139110 chr17 78201752 78201752 C T rs370522863 SLC26A11 Synonymous SNV A243A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.457 139111 chr7 102113188 102113188 C T rs144458335 LRWD1 Synonymous SNV Y428Y 0.006 0.003 0.014 2 7 1 0.005 4 1 0 0 0 8.939 139112 chr6 42626051 42626051 T C rs373678527 UBR2 Nonsynonymous SNV M1019T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.98 139113 chr7 103131273 103131273 C T rs770503009 RELN Synonymous SNV S3149S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 139114 chr7 120428732 120428732 G T rs191668687 TSPAN12 Nonsynonymous SNV L278M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.5 139115 chr12 24985740 24985740 C T rs7313020 BCAT1 Nonsynonymous SNV E260K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.77 139116 chr6 42974392 42974392 G A rs749101236 PPP2R5D Synonymous SNV E99E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 139117 chr17 79226324 79226324 G A rs779022033 SLC38A10 Nonsynonymous SNV A539V 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 10.3 139118 chr6 43181595 43181595 G A rs376937379 CUL9 Nonsynonymous SNV R1878H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 139119 chr7 122634908 122634909 AG - rs749729867 TAS2R16 W261Gfs*37 0.002 0.003 0 0 2 1 0 0 0 0 0 0 139120 chr6 35565058 35565058 C T rs142925622 FKBP5 Nonsynonymous SNV R211Q 0.001 0.01 0 5 1 4 0.013 0 0 0 0 0 24.6 139121 chr17 79633509 79633509 G A rs567196580 OXLD1 Synonymous SNV H33H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.949 139122 chr6 43400999 43400999 C T rs375257154 ABCC10 Synonymous SNV L384L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.114 139123 chr6 43581445 43581445 C T rs769551947 POLH Synonymous SNV A307A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.27 139124 chr12 27944824 27944824 C T rs146927568 KLHL42 Synonymous SNV Y352Y 0.006 0.018 0.003 3 7 7 0.008 1 0 0 0 0 9.225 139125 chr12 28116371 28116371 G A rs771925343 PTHLH Nonsynonymous SNV S145F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 139126 chr6 36689427 36689427 C G rs115645660 RAB44 Nonsynonymous SNV P506A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.722 139127 chr7 127991928 127991928 G A rs986573221 PRRT4 Nonsynonymous SNV A561V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 139128 chr17 80544980 80544980 G A rs146173102 FOXK2 Nonsynonymous SNV G540S 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 23.1 139129 chr7 120737809 120737809 C T rs144805034 CPED1 Nonsynonymous SNV P225S 0.003 0 0 0 3 0 0 0 0 0 0 0 9.798 139130 chr6 38899643 38899643 T A rs75954496 DNAH8 Synonymous SNV T3560T 0.01 0.016 0.007 3 12 6 0.008 2 0 0 0 0 Benign 8.277 139131 chr18 42643270 42643270 G T rs117498128 SETBP1 Nonsynonymous SNV E1466D 0.005 0.013 0.014 0 6 5 0 4 0 0 1 0 Likely benign 14.67 139132 chr6 39016630 39016630 C T rs200721844 GLP1R Nonsynonymous SNV P5L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 139133 chr7 130008401 130008401 G A rs142686907 CPA5 Nonsynonymous SNV G397R 0.004 0 0 0 5 0 0 0 0 0 0 0 7.052 139134 chr18 46190903 46190903 C G CTIF Nonsynonymous SNV P138A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 139135 chr7 126746597 126746597 T G rs200219854 GRM8 Nonsynonymous SNV Y22S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 139136 chr18 47778085 47778085 T C CFAP53 Synonymous SNV K181K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.793 139137 chr18 48500804 48500804 G A rs762520319 ELAC1 Synonymous SNV T10T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 139138 chr18 52265126 52265126 T C rs761996540 DYNAP Nonsynonymous SNV I76T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 139139 chr18 6971872 6971872 G A rs76842111 LAMA1 Nonsynonymous SNV R2295C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.5 139140 chr6 51524339 51524339 C G rs145184792 PKHD1 Nonsynonymous SNV E3529Q 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign/Likely benign 13.34 139141 chr18 6971905 6971905 G A rs77810945 LAMA1 Synonymous SNV L2284L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.09 139142 chr7 128461935 128461935 A C rs545748655 CCDC136 Nonsynonymous SNV Q999P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.29 139143 chr12 44130330 44130330 G A rs116948464 PUS7L Nonsynonymous SNV R214C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 139144 chr6 51747943 51747943 T A rs76895755 PKHD1 Nonsynonymous SNV D2433V 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign 25.3 139145 chr17 5012814 5012814 C G ZNF232 Nonsynonymous SNV E125Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.7 139146 chr18 7015736 7015736 C T rs200710797 LAMA1 Synonymous SNV A1037A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 139147 chr7 128784897 128784899 TCT - TSPAN33 F29del 0.004 0 0 0 5 0 0 0 0 0 0 0 139148 chr20 61834855 61834855 G A rs141487890 YTHDF1 Nonsynonymous SNV A146V 0.006 0 0 2 7 0 0.005 0 0 0 0 0 24 139149 chr7 138264079 138264079 A G rs35356723 TRIM24 Nonsynonymous SNV N762S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.014 139150 chr18 9255788 9255788 T G rs138072329 ANKRD12 Nonsynonymous SNV F818L 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 0.099 139151 chr7 139827328 139827328 C T rs201155007 KDM7A Nonsynonymous SNV M205I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.6 139152 chr12 49361958 49361958 A G rs751106408 WNT10B Nonsynonymous SNV L161P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 139153 chr7 1097193 1097193 G A rs138981691 GPR146 Synonymous SNV E14E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.108 139154 chr7 143088779 143088779 C T rs201365734 EPHA1 Nonsynonymous SNV R929H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 139155 chr7 116340269 116340269 C T rs28444388 MET Synonymous SNV I377I 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Benign 12.95 139156 chr21 27347407 27347407 G A rs200601478 APP Synonymous SNV T347T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.99 139157 chr18 21353572 21353587 GTGTATCTTAGCCTGT - rs751342972 LAMA3 L434Cfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 139158 chr6 7231817 7231817 G A rs201015406 RREB1 Nonsynonymous SNV R1162Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.45 139159 chr6 49698946 49698946 T A CRISP3 Nonsynonymous SNV R203S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.6 139160 chr7 121944239 121944239 T C rs145467198 FEZF1 Nonsynonymous SNV S85G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 11.06 139161 chr7 139734127 139734127 G A rs373525023 PARP12 Synonymous SNV F443F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.35 139162 chr12 52579186 52579186 C A rs777957613 KRT80 Nonsynonymous SNV E162D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 139163 chr17 7750539 7750539 A G KDM6B Synonymous SNV P342P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.023 139164 chr7 141899698 141899698 A G rs201561024 MGAM2 Synonymous SNV G1689G 0.007 0 0.007 1 8 0 0.003 2 0 0 0 0 8.26 139165 chr7 127255098 127255098 C T PAX4 Nonsynonymous SNV V66I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 139166 chr18 29848579 29848579 T C rs200151944 GAREM1 Nonsynonymous SNV H629R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 139167 chr7 142983735 142983735 G A rs61737873 TMEM139 Nonsynonymous SNV S155N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.796 139168 chr7 128843411 128843411 G A rs147491841 SMO Nonsynonymous SNV R173H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 not provided 18.55 139169 chr7 129152191 129152191 A G rs182346776 SMKR1 Nonsynonymous SNV Y36C 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 19.42 139170 chr7 129944365 129944365 G A rs200929919 CPA4 Synonymous SNV A111A 0.003 0 0 0 4 0 0 0 0 0 0 0 6.155 139171 chr18 42532328 42532328 G A rs760902522 SETBP1 Nonsynonymous SNV R1008H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 139172 chr7 131853223 131853223 G A rs1015797859 PLXNA4 Nonsynonymous SNV R1376C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 139173 chr19 622207 622207 C T rs61745193 POLRMT Nonsynonymous SNV R598H 0.008 0.005 0.01 8 9 2 0.021 3 1 0 0 0 10.45 139174 chr12 54378834 54378834 T C rs190789570 HOXC-AS3 0 0 0.014 0 0 0 0 4 0 0 1 0 12.38 139175 chr7 136700692 136700692 T G rs1034180842 CHRM2 Nonsynonymous SNV I360M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 139176 chr18 47778134 47778134 C T rs138848935 CFAP53 Nonsynonymous SNV R165H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 35 139177 chr7 157449151 157449151 G A rs142100016 PTPRN2 Synonymous SNV S660S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 2.123 139178 chr7 149576481 149576481 A T rs764717785 ATP6V0E2 Synonymous SNV G119G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 139179 chr6 83732276 83732276 A C rs548304473 UBE3D Nonsynonymous SNV W61G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.44 139180 chr12 5685068 5685068 G A rs773623058 ANO2 Synonymous SNV N851N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 139181 chr12 57146032 57146032 G A PRIM1 Synonymous SNV Y17Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 139182 chr6 86223943 86223943 A C rs747641642 SNX14 Nonsynonymous SNV V748G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.7 139183 chr7 151065003 151065003 C T NUB1 Synonymous SNV I372I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.004 139184 chr17 19685234 19685234 C G rs143091490 ULK2 Synonymous SNV V869V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 11.27 139185 chr7 2262245 2262245 G A rs202218277 MAD1L1 Nonsynonymous SNV R146C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 33 139186 chr7 144095651 144095651 A G NOBOX Synonymous SNV L500L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.013 139187 chr7 26404688 26404688 T C rs141037310 SNX10 Synonymous SNV S75S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.44 139188 chr7 2742416 2742416 C T rs750964688 AMZ1 Nonsynonymous SNV A122V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.6 139189 chr19 2717283 2717283 G A rs558633973 DIRAS1 Synonymous SNV S174S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.96 139190 chr19 3959459 3959459 G A rs368652868 DAPK3 Synonymous SNV A335A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.22 139191 chr7 24331305 24331305 G A rs377578689 NPY Synonymous SNV X98X 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 139192 chr18 72775978 72775978 G A rs200271129 ZNF407 Nonsynonymous SNV G2101S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.8 139193 chr7 150269520 150269520 T - GIMAP4 P136Hfs*17 0.006 0.003 0 1 7 1 0.003 0 1 0 0 0 139194 chr18 74091703 74091703 G A rs372550448 ZNF516 Synonymous SNV S789S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 139195 chr12 74686395 74686395 C T rs74624900 LOC100507377 0 0 0.014 0 0 0 0 4 0 0 0 0 3.057 139196 chr7 36561695 36561695 C A rs147438510 AOAH Stop gain G485X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 46 139197 chr17 28548674 28548674 A G rs56110451 SLC6A4 Synonymous SNV N101N 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 1.591 139198 chr12 76740081 76740081 A G rs111773727 BBS10 Synonymous SNV L562L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 139199 chr19 375899 375899 C T rs138651861 THEG Synonymous SNV E24E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.304 139200 chr19 4523828 4523828 G A rs746884545 PLIN5 Synonymous SNV A368A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.17 139201 chr7 30538442 30538442 G C rs142543540 GGCT Nonsynonymous SNV P134A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.87 139202 chr19 5206827 5206827 C T rs758713201 PTPRS Synonymous SNV A1488A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 139203 chr12 89917541 89917541 A T rs188465081 GALNT4, POC1B-GALNT4 Nonsynonymous SNV N262K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 16.86 139204 chr22 21982992 21982992 C T rs762109612 YDJC Synonymous SNV L229L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.638 139205 chr7 45123857 45123857 A G rs7790844 NACAD Nonsynonymous SNV V641A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 139206 chr12 91572120 91572120 C T rs200516355 DCN Synonymous SNV L70L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 16.25 139207 chr7 107262240 107262240 C T BCAP29 Synonymous SNV L286L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 139208 chr19 6222610 6222610 C T rs143656133 MLLT1 Nonsynonymous SNV S211N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.4 139209 chr17 35969363 35969363 G A SYNRG Nonsynonymous SNV A14V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 139210 chr17 36829792 36829792 G A rs113113697 EPOP Synonymous SNV F319F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.16 139211 chr7 37960646 37960646 G A rs200569265 EPDR1 Synonymous SNV A35A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.45 139212 chr7 47874568 47874568 G C PKD1L1 Nonsynonymous SNV H2042D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.512 139213 chr17 36927442 36927442 C T rs61749872 PIP4K2B Synonymous SNV E297E 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 15.15 139214 chr22 23437914 23437914 A C rs772805782 GNAZ Nonsynonymous SNV E11A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.71 139215 chr19 7754101 7754101 G A rs34694289 FCER2 Nonsynonymous SNV P314L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 15.38 139216 chr19 7831061 7831061 A G rs479448 CLEC4M Nonsynonymous SNV Y223C 0.002 0.003 0.017 0 2 1 0 5 0 0 1 0 22.8 139217 chr7 23299672 23299672 T C rs138093008 GPNMB Synonymous SNV P205P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.633 139218 chr7 121716595 121716595 C T rs770967736 AASS Nonsynonymous SNV R910Q 0 0.005 0 2 0 2 0.005 0 0 0 0 0 26.9 139219 chr19 1806102 1806102 G A rs368672940 ATP8B3 Synonymous SNV I195I 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 5.245 139220 chr12 99640356 99640356 G A rs185927825 ANKS1B Synonymous SNV L681L 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Likely benign 3.356 139221 chr7 100663499 100663499 G A MUC17 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.13 139222 chr7 123097475 123097475 T C rs142301871 IQUB Nonsynonymous SNV D718G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 28.1 139223 chr19 7964704 7964704 G A rs36038711 LRRC8E Nonsynonymous SNV V304I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 12.97 139224 chr13 101710438 101710438 G A rs200555899 NALCN-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.221 139225 chr7 44579602 44579602 T C rs764587726 NPC1L1 Nonsynonymous SNV N132D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.198 139226 chr7 44806206 44806206 G A rs777975265 ZMIZ2 Nonsynonymous SNV V841M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 18.58 139227 chr19 8316051 8316051 C T rs151158244 CERS4 Nonsynonymous SNV R31C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.75 139228 chr22 26906201 26906201 C T rs199753073 TFIP11 Nonsynonymous SNV R13H 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 8.031 139229 chr7 2748316 2748316 G C rs559567205 AMZ1 Nonsynonymous SNV W189C 0.002 0 0 0 2 0 0 0 0 0 0 0 26 139230 chr22 28194912 28194912 - TGCTGCTGCTGCTGCTGCTGTTGCTGC MN1 Q550_R551insQQQQQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 139231 chr17 39140373 39140373 C T rs142639581 KRT40 Synonymous SNV R51R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 13.64 139232 chr13 108518578 108518578 G A rs767748270 FAM155A Nonsynonymous SNV L123F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 139233 chr22 29538021 29538021 C T KREMEN1 Nonsynonymous SNV S433F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 139234 chr22 29916010 29916010 T C THOC5 Nonsynonymous SNV K454R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.76 139235 chr7 48327673 48327673 C T rs755443192 ABCA13 Stop gain Q2985X 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 39 139236 chr7 31117650 31117650 C T ADCYAP1R1 Nonsynonymous SNV H68Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 139237 chr22 30927944 30927944 G A rs886427196 SEC14L6 Synonymous SNV L155L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.025 139238 chr7 6193968 6193968 C T rs753053527 USP42 Nonsynonymous SNV A928V 0.003 0 0 0 3 0 0 0 0 0 0 0 4.577 139239 chr13 113798308 113798308 G A rs144711550 F10 Nonsynonymous SNV D172N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 0.002 139240 chr7 50435903 50435903 C A rs76112582 IKZF1 Synonymous SNV I120I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign 4.586 139241 chr7 113558921 113558921 C T rs201521408 PPP1R3A Nonsynonymous SNV R44Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 139242 chr13 114525123 114525123 G T rs146664338 GAS6 Nonsynonymous SNV L564I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 139243 chr13 115048329 115048329 A C rs750514540 UPF3A Nonsynonymous SNV Y111S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 139244 chr7 6548601 6548601 G A rs187045506 GRID2IP Synonymous SNV N705N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.673 139245 chr7 5427695 5427695 C G TNRC18 Nonsynonymous SNV S587T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 139246 chr7 100202751 100202751 G A rs144010281 PCOLCE Synonymous SNV Q167Q 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 7.66 139247 chr19 9020070 9020070 C G rs73920371 MUC16 Synonymous SNV R12475R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.47 139248 chr7 129094304 129094304 C T rs150523481 STRIP2 Synonymous SNV R214R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.55 139249 chr19 5220305 5220305 G A rs764176169 PTPRS Nonsynonymous SNV P741L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 139250 chr13 28644697 28644697 C G rs149370695 FLT3 Synonymous SNV V32V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 11.38 139251 chr13 28841311 28841311 G T PAN3 Nonsynonymous SNV L551F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 139252 chr17 41576249 41576249 A G rs755279033 DHX8 Synonymous SNV E349E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.55 139253 chr17 42155781 42155781 G A rs373427579 HDAC5 Nonsynonymous SNV P1112L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 139254 chr7 8272304 8272304 C T rs745708769 ICA1 Synonymous SNV T33T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 17.47 139255 chr19 9297246 9297246 G A rs61732227 OR7D2 Synonymous SNV A263A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 4.152 139256 chr19 9325278 9325278 G A rs61732668 OR7D4 Nonsynonymous SNV P79L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.1 139257 chr22 39267515 39267515 C T rs139570238 CBX6 Synonymous SNV R72R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.993 139258 chr19 9639743 9639743 A G rs763728751 ZNF426 Synonymous SNV H288H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.142 139259 chr19 10071519 10071519 C T rs62638756 COL5A3 Synonymous SNV L1633L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.657 139260 chr17 44061123 44061123 C T rs73314997 MAPT Nonsynonymous SNV S318L 0.007 0.003 0.007 0 8 1 0 2 3 0 0 0 Benign 22.1 139261 chr7 912157 912157 G A rs200378884 SUN1 Synonymous SNV T630T 0.007 0.013 0.003 3 8 5 0.008 1 0 0 0 0 Benign 5.619 139262 chr19 10217264 10217264 C G PPAN, PPAN-P2RY11 Nonsynonymous SNV R36G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 139263 chr19 10415812 10415812 T C rs114810281 ZGLP1 Synonymous SNV L257L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.092 139264 chr19 10421216 10421216 C A rs1048941 FDX2 Synonymous SNV L169L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.45 139265 chr19 10433357 10433357 C T rs115122793 RAVER1 Synonymous SNV A379A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.53 139266 chr7 5257593 5257593 C T rs763867204 WIPI2 Nonsynonymous SNV A147V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 139267 chr7 5270527 5270527 G A rs756858126 WIPI2 Synonymous SNV L368L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.822 139268 chr19 10531500 10531500 G C rs78392044 PDE4A Synonymous SNV R20R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 7.949 139269 chr7 141478691 141478691 G C rs142313979 TAS2R4 Nonsynonymous SNV A135P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 23.3 139270 chr7 5417170 5417170 G A rs200992316 TNRC18 Nonsynonymous SNV P765S 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 23.6 139271 chr7 80292370 80292370 C A rs369405900 CD36 Stop gain S10X 0.007 0.003 0 0 8 1 0 0 0 0 0 0 38 139272 chr7 142636799 142636799 C A LLCFC1 Nonsynonymous SNV N52K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.032 139273 chr19 11285219 11285219 G A rs61734812 KANK2 Synonymous SNV N674N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.979 139274 chr7 84702312 84702312 A T SEMA3D Nonsynonymous SNV I154K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 139275 chr19 11541565 11541565 C T rs112493796 CCDC151 Nonsynonymous SNV R79H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.41 139276 chr8 101075852 101075852 G T RGS22 Nonsynonymous SNV Q201K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 139277 chr19 8993008 8993008 G A MUC16 Synonymous SNV S13917S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.033 139278 chr19 8993017 8993017 G T rs111468097 MUC16 Synonymous SNV P13914P 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 2.38 139279 chr19 8993020 8993020 T C rs796526726 MUC16 Synonymous SNV V13913V 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 0.232 139280 chr19 11649778 11649778 C T rs139463864 CNN1 Synonymous SNV Y12Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 139281 chr7 88966342 88966342 A G ZNF804B Nonsynonymous SNV N1349S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.4 139282 chr7 65432727 65432727 C T rs776242697 GUSB Synonymous SNV G402G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.07 139283 chr19 12186639 12186639 G T ZNF844 Nonsynonymous SNV S235I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 139284 chr8 103305865 103305865 T C rs138277264 UBR5 Synonymous SNV L1519L 0.009 0.01 0 4 10 4 0.01 0 0 0 0 0 1.85 139285 chr13 77842058 77842058 A G MYCBP2 Synonymous SNV Y425Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.954 139286 chr13 78335147 78335147 A G rs149686748 SLAIN1 Synonymous SNV A134A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 139287 chr13 78470673 78470673 A G rs202174312 EDNRB Synonymous SNV N405N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.13 139288 chr7 149501137 149501137 G A rs143287750 SSPO 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.04 139289 chr7 73442551 73442551 G A rs149127344 ELN Nonsynonymous SNV G12R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.9 139290 chr13 95279289 95279289 T C GPR180 Nonsynonymous SNV L396P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 139291 chr19 12856334 12856334 C G GET3 Synonymous SNV V151V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 139292 chr19 9010654 9010654 G A MUC16 Nonsynonymous SNV P13003S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.454 139293 chr19 9019275 9019275 T C MUC16 Nonsynonymous SNV T12538A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.547 139294 chr13 96513097 96513097 C G rs978942204 UGGT2 Nonsynonymous SNV D1229H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 139295 chr19 9019280 9019280 G T MUC16 Nonsynonymous SNV P12536H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 139296 chr19 9019284 9019284 T C MUC16 Nonsynonymous SNV S12535G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.047 139297 chr7 97842019 97842019 C A BHLHA15 Nonsynonymous SNV T133N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 139298 chr19 9019285 9019285 T A MUC16 Synonymous SNV P12534P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.88 139299 chr19 9019288 9019288 G C MUC16 Synonymous SNV L12533L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.487 139300 chr7 100839654 100839654 C T rs151326500 MOGAT3 Nonsynonymous SNV V229M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.3 139301 chr7 102755545 102755545 T C rs149133622 NAPEPLD Nonsynonymous SNV M340V 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 0.017 139302 chr7 99621492 99621492 C T rs201086075 ZKSCAN1 Synonymous SNV P121P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.51 139303 chr8 110412530 110412530 G A rs202180175 PKHD1L1 Nonsynonymous SNV R413H 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 25 139304 chr19 9059799 9059799 A T rs200344603 MUC16 Nonsynonymous SNV V9216D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 139305 chr14 102019016 102019016 C T rs141256623 DIO3OS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.856 139306 chr19 14829490 14829490 G A rs542691118 ZNF333 Nonsynonymous SNV E220K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 139307 chr8 113657421 113657421 C T rs769136076 CSMD3 Nonsynonymous SNV G946E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.7 139308 chr8 103300489 103300489 C T rs200777265 UBR5 Synonymous SNV E1573E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.03 139309 chr7 21813398 21813399 CT - DNAH11 S3040Yfs*2 0 0.008 0 0 0 3 0 0 0 0 0 0 139310 chr14 104624149 104624149 G A rs560694085 KIF26A Nonsynonymous SNV V265M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 139311 chr19 15580440 15580440 C G PGLYRP2 Synonymous SNV V548V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 139312 chr7 24789376 24789376 G T rs757425700 GSDME Synonymous SNV T6T 0 0.008 0 0 0 3 0 0 0 0 0 0 6.353 139313 chr7 2695750 2695750 G A rs142924267 TTYH3 Nonsynonymous SNV V349M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.11 139314 chr8 12947789 12947789 G A rs139251311 DLC1 Nonsynonymous SNV S838L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22 139315 chr19 10433402 10433402 G A rs201707368 RAVER1 Synonymous SNV A364A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.993 139316 chr19 10506697 10506697 C T rs751987466 CDC37 Synonymous SNV E95E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 139317 chr7 21582994 21582994 A G DNAH11 Nonsynonymous SNV E44G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.47 139318 chr7 99693747 99693747 C T rs61749909 MCM7 Synonymous SNV T239T 0.013 0.008 0.003 6 15 3 0.015 1 0 1 0 0 Benign 14.99 139319 chr7 99695462 99695462 A G rs150842015 MCM7 Nonsynonymous SNV I151T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.4 139320 chr19 10781760 10781760 G C rs1802642 ILF3 Synonymous SNV T38T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 139321 chr8 133883766 133883766 G T TG Nonsynonymous SNV G150W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 139322 chr7 22233013 22233013 G A rs375961830 RAPGEF5 Synonymous SNV H89H 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 9.368 139323 chr7 34125683 34125683 T C rs760584340 BMPER Nonsynonymous SNV V575A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.2 139324 chrX 66765158 66765158 - GCAGCAGCAGCAGCA AR Q80_E81insQQQQQ 0.006 0 0 2 7 0 0.005 0 3 0 0 1 139325 chr14 21963401 21963401 C T rs144817262 TOX4 Nonsynonymous SNV S529F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 139326 chr19 13318676 13318678 CTG - CACNA1A Q2325del 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 139327 chr19 13397515 13397515 C T rs199745070 CACNA1A Nonsynonymous SNV A1120T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.3 139328 chr19 14074412 14074412 G A rs141861806 RFX1 Synonymous SNV Y836Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.356 139329 chr19 14162457 14162457 T G rs777913254 IL27RA Nonsynonymous SNV F523V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 139330 chr14 23518396 23518396 C T rs748923700 CDH24 Synonymous SNV G562G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 139331 chr14 23524466 23524466 T C rs117261340 CDH24 Nonsynonymous SNV N100D 0.012 0.005 0.014 0 14 2 0 4 0 0 0 0 17.37 139332 chr8 133036914 133036914 G A rs116491466 OC90 Synonymous SNV L416L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.435 139333 chr8 133090110 133090110 C T HHLA1 Nonsynonymous SNV G345E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 139334 chr8 105510158 105510158 T C rs774822844 LRP12 Nonsynonymous SNV T189A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 139335 chrX 103494998 103494998 - GGGTGGCACAGGCGCCATGGGCGGCCC ESX1 P377_R378insGPPMAPVPP 0.002 0 0 0 2 0 0 0 1 0 0 0 139336 chr19 18976560 18976560 C T rs151123373 UPF1 Synonymous SNV P1081P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.24 139337 chr7 143077141 143077141 C T rs939101584 LOC100507507 0 0.003 0 2 0 1 0.005 0 0 0 0 0 6.795 139338 chr14 24845915 24845915 C T rs148620532 NFATC4 Synonymous SNV G754G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.42 139339 chr17 73874358 73874358 G C rs577782968 TRIM47 Nonsynonymous SNV P91R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.48 139340 chr8 13425050 13425050 A G rs765217669 C8orf48 Nonsynonymous SNV T184A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 139341 chr8 139190867 139190867 T C rs199559305 FAM135B Nonsynonymous SNV M314V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.616 139342 chr8 11281975 11281975 G A FAM167A Synonymous SNV S184S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.597 139343 chrX 129765505 129765505 A G ENOX2 Nonsynonymous SNV Y489H 0.002 0 0 0 2 0 0 0 1 0 0 0 9.91 139344 chr7 36561663 36561663 A G AOAH Synonymous SNV D495D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.552 139345 chr19 21131847 21131847 G T ZNF85 Nonsynonymous SNV C112F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 139346 chr7 38433622 38433622 C T rs367689186 AMPH Nonsynonymous SNV E489K 0 0.005 0 0 0 2 0 0 0 0 0 0 12.19 139347 chr8 120079618 120079618 G A rs138260433 COLEC10 Nonsynonymous SNV R33H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 13.97 139348 chr19 16601243 16601243 T - CALR3 K111Rfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 139349 chr8 143592309 143592309 C T rs767474733 ADGRB1 Nonsynonymous SNV P898S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 139350 chr17 76130576 76130576 C T rs149203228 TMC8 Synonymous SNV N306N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.843 139351 chr8 124664848 124664848 C T rs777000926 KLHL38 Nonsynonymous SNV V107M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.755 139352 chr7 4900936 4900936 A G PAPOLB Nonsynonymous SNV I169T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25 139353 chr8 125565607 125565607 C G rs150324758 MTSS1 Nonsynonymous SNV A567P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.28 139354 chr14 51224289 51224289 C T rs41310342 NIN Synonymous SNV R1153R 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 Likely benign 3.215 139355 chr8 144891028 144891028 G A rs763830940 SCRIB Synonymous SNV P622P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.605 139356 chr8 145660237 145660237 C G rs34180657 TONSL Synonymous SNV P1014P 0.004 0 0 1 5 0 0.003 0 1 0 0 0 8.953 139357 chr14 52949561 52949561 T C TXNDC16 Nonsynonymous SNV I406V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 139358 chr8 145737340 145737340 G A rs368671582 RECQL4 Nonsynonymous SNV P1116L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 10.13 139359 chr8 145739416 145739416 C T rs61754061 RECQL4 Nonsynonymous SNV V652M 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 24.7 139360 chr7 151860363 151860363 C T rs139153777 KMT2C Synonymous SNV Q3433Q 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 9.058 139361 chr7 151874657 151874657 T C rs143147669 KMT2C Synonymous SNV Q2627Q 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.014 139362 chr8 144993884 144993884 C A rs201373953 PLEC Nonsynonymous SNV V3355L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.202 139363 chr8 144997698 144997698 C T rs375489890 PLEC Synonymous SNV A2119A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.125 139364 chr19 36210703 36210703 C T rs200918556 KMT2B Nonsynonymous SNV R152W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 139365 chr14 60395087 60395087 A G rs34913699 LRRC9 Synonymous SNV L50L 0 0.003 0.01 0 0 1 0 3 0 0 1 0 9.701 139366 chr8 145110798 145110798 G A rs781909481 OPLAH Nonsynonymous SNV T714I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.279 139367 chr10 105944815 105944815 C A rs145800519 CFAP43 Synonymous SNV V700V 0.007 0.013 0.007 1 8 5 0.003 2 0 0 0 0 Benign 15.75 139368 chr19 19745391 19745391 G A rs767621141 GMIP Nonsynonymous SNV S641L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 139369 chr8 145576986 145576986 G A rs184511087 TMEM249 Nonsynonymous SNV S212L 0.003 0 0 0 4 0 0 0 0 0 0 0 4.584 139370 chr8 145663862 145663862 C T rs774903577 TONSL Nonsynonymous SNV V549M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 139371 chr7 77408342 77408342 A G rs373897085 RSBN1L Nonsynonymous SNV I800V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.103 139372 chr14 65878994 65878996 AGC - rs138755557 FUT8-AS1 0 0 0.054 0 0 0 0 16 0 0 1 0 139373 chr8 144875184 144875184 C T rs201563528 SCRIB Nonsynonymous SNV V1327M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 139374 chr7 80088038 80088038 T C rs144189518 GNAT3 Synonymous SNV A338A 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 6.621 139375 chr8 145735311 145735311 C T rs1009841153 MFSD3 Nonsynonymous SNV R199C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.8 139376 chr14 68047706 68047706 G A rs541575886 PLEKHH1 Nonsynonymous SNV G1079R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 139377 chr8 145772995 145772995 C T rs777563207 ARHGAP39 Nonsynonymous SNV R492H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 139378 chr8 144943130 144943130 A C EPPK1 Nonsynonymous SNV L1431R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 139379 chr14 68301824 68301824 G A rs190059291 RAD51B Nonsynonymous SNV A76T 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 Uncertain significance 2.34 139380 chr19 32845347 32845347 G C ZNF507 Nonsynonymous SNV L537F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.97 139381 chr7 72992802 72992802 C T rs200609531 TBL2 Synonymous SNV A26A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 139382 chr14 71493565 71493565 T C rs140173884 PCNX1 Synonymous SNV C1033C 0 0 0.007 0 0 0 0 2 0 0 0 0 3.379 139383 chr8 144993915 144993915 G A rs782741359 PLEC Synonymous SNV A3344A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.091 139384 chr10 11985155 11985155 T C rs756064403 UPF2 Nonsynonymous SNV N1063D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 139385 chr19 33353410 33353410 G A rs147273892 SLC7A9 Synonymous SNV I187I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 139386 chr14 74062288 74062288 G A rs200759581 ACOT4 Stop gain W399X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 139387 chr8 196121 196121 G T rs117305688 ZNF596 Nonsynonymous SNV G425V 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 24 139388 chr19 40096008 40096008 G A rs370450997 LGALS13 Nonsynonymous SNV V95I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 139389 chr8 145165258 145165258 G T rs529131932 WDR97 Nonsynonymous SNV V620L 0.002 0 0 0 2 0 0 0 0 0 0 0 25 139390 chr8 22064455 22064455 G A rs138999760 BMP1 Synonymous SNV T774T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 139391 chr7 86537850 86537850 A G rs80054630 KIAA1324L Nonsynonymous SNV V550A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.9 139392 chr14 77844681 77844681 G A rs141415666 SAMD15 Nonsynonymous SNV R307Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.033 139393 chr8 22926367 22926367 G T TNFRSF10B Nonsynonymous SNV A14D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 139394 chr8 30704448 30704448 G C TEX15 Nonsynonymous SNV H1079D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.168 139395 chr19 36229066 36229066 A C KMT2B Nonsynonymous SNV K2616Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 139396 chr18 12657788 12657788 G T rs563215443 SPIRE1 Synonymous SNV P26P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.46 139397 chr19 36230855 36230855 C G rs774965152 IGFLR1 Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.648 139398 chr8 37555318 37555318 A G rs201791294 ZNF703 Nonsynonymous SNV K300R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.5 139399 chr19 36530893 36530893 G A rs148080678 THAP8 Nonsynonymous SNV R77W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25 139400 chr19 43990438 43990438 G A rs201337364 PHLDB3 Nonsynonymous SNV P489S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.104 139401 chr7 98741383 98741383 G A SMURF1 Synonymous SNV R7R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.07 139402 chr7 99725298 99725298 C T MBLAC1 Synonymous SNV L94L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 6.773 139403 chr14 92471229 92471229 C T rs766077430 TRIP11 Nonsynonymous SNV E1030K 0 0 0.003 0 0 0 0 1 0 0 0 0 29 139404 chr19 38125964 38125964 G A ZFP30 Nonsynonymous SNV P493L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 139405 chr19 44417683 44417683 G T rs142569864 ZNF45 Synonymous SNV T635T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 139406 chr8 28206742 28206742 G A rs142303877 ZNF395 Nonsynonymous SNV R444W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 139407 chr18 32822526 32822526 C T rs376251130 ZNF397 Nonsynonymous SNV S31F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 139408 chr18 33059286 33059286 C T rs200003782 INO80C Synonymous SNV P64P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.23 139409 chr8 30890223 30890223 T C rs11574153 PURG Nonsynonymous SNV S26G 0.01 0.01 0.003 0 12 4 0 1 0 0 0 0 23.3 139410 chr8 104412728 104412728 T C rs142086790 SLC25A32 Nonsynonymous SNV I287V 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 14.35 139411 chr19 38964358 38964358 C T rs11882640 RYR1 Synonymous SNV P1369P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.999 139412 chr19 38976266 38976266 C T rs141107290 RYR1 Synonymous SNV D1657D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.55 139413 chr8 37823014 37823014 C T ADRB3 Nonsynonymous SNV G325D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 139414 chr19 40316896 40316896 C T rs372159043 DYRK1B Nonsynonymous SNV R481Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 139415 chr15 100185879 100185879 A G rs200687749 MEF2A Synonymous SNV Q56Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.869 139416 chr19 45176145 45176145 C T rs142817292 CEACAM19 Synonymous SNV R111R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.74 139417 chr8 124027820 124027820 C T rs141975370 DERL1 Nonsynonymous SNV R108H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 139418 chr10 14938948 14938948 C G rs776572721 SUV39H2 Nonsynonymous SNV S34C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 139419 chr10 15098864 15098864 C T rs140879602 OLAH Nonsynonymous SNV R69W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.23 139420 chr10 15138451 15138451 C T rs111410426 RPP38-DT 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.52 139421 chr10 15145917 15145917 A C rs12249258 RPP38 Nonsynonymous SNV S202R 0.006 0 0 3 7 0 0.008 0 0 0 0 0 1.849 139422 chr10 15172178 15172178 C T rs774225470 NMT2 Nonsynonymous SNV A285T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 139423 chr8 77762486 77762486 T A ZFHX4 Synonymous SNV P1284P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.1 139424 chr8 77763881 77763881 A G ZFHX4 Nonsynonymous SNV E1575G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 139425 chr10 15172197 15172197 G T rs113635622 NMT2 Synonymous SNV I278I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.698 139426 chr8 126091124 126091124 C T rs768597587 WASHC5 Synonymous SNV L41L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.98 139427 chr8 120428792 120428792 C A rs201275451 CCN3 Nonsynonymous SNV T7K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.43 139428 chr8 82443500 82443500 G A rs61737701 FABP12 Synonymous SNV S17S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 9.143 139429 chr15 102255118 102255118 C G rs144556735 TARSL2 Synonymous SNV L205L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 139430 chr19 42224847 42224847 C T CEACAM5 Nonsynonymous SNV P593S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 139431 chr8 125035719 125035719 G A rs780307844 FER1L6 Nonsynonymous SNV M723I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 139432 chr15 28211912 28211912 G T rs140932222 OCA2 Synonymous SNV L496L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.233 139433 chr19 42557803 42557803 T C rs771316828 GRIK5 Nonsynonymous SNV N407S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.07 139434 chr8 67086717 67086717 G C rs747697761 TRIM55 Nonsynonymous SNV E205D 0.003 0 0 0 3 0 0 0 0 0 0 0 8.859 139435 chr8 29923556 29923556 C T rs142700582 SARAF Synonymous SNV S142S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.52 139436 chr15 31234237 31234237 G C rs148785830 MTMR10 Synonymous SNV A590A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.65 139437 chr10 27337805 27337805 - CATCAT ANKRD26 D579_G580insDD 0.001 0 0 0 1 0 0 0 0 0 0 0 139438 chr19 44351995 44351995 C T rs115541142 ZNF283 Synonymous SNV C275C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.7 139439 chr15 34354978 34354978 G A rs146043159 CHRM5 Synonymous SNV Q20Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.451 139440 chr19 44377048 44377048 C T rs76550420 ZNF404 Nonsynonymous SNV E437K 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 19.36 139441 chr19 44378178 44378178 T C rs77779894 ZNF404 Nonsynonymous SNV Y60C 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 0.055 139442 chr19 48845855 48845855 C T rs145038055 TMEM143 Nonsynonymous SNV D203N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 139443 chr15 34648319 34648319 C G rs150522550 NUTM1 Nonsynonymous SNV P694A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.144 139444 chr19 49001576 49001576 G C LMTK3 Nonsynonymous SNV P946R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.107 139445 chr15 37390310 37390310 G A rs138503850 MEIS2 Nonsynonymous SNV P22S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 139446 chr8 8176540 8176540 C T rs116402506 PRAG1 Synonymous SNV A1115A 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 14.5 139447 chr8 38853813 38853813 G A rs145686862 TM2D2 Nonsynonymous SNV A49V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 15.83 139448 chr15 38811530 38811530 C A rs368259294 RASGRP1 Synonymous SNV L123L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 139449 chr19 44423822 44423822 C G rs62640886 ZNF45 Synonymous SNV V15V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 139450 chr8 139691859 139691859 C - rs767448103 COL22A1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 139451 chr15 40477762 40477762 A G rs774654439 BUB1B Nonsynonymous SNV N326S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.031 139452 chr9 103070935 103070935 G A rs201330477 TEX10 Nonsynonymous SNV T774M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 139453 chr8 42329851 42329851 A G rs115993270 SLC20A2 Synonymous SNV L20L 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 Benign/Likely benign 4.062 139454 chr8 43211994 43211994 G C rs144652182 POTEA Nonsynonymous SNV E439Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 2.356 139455 chr8 142222312 142222312 A G SLC45A4 Nonsynonymous SNV V711A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.05 139456 chr15 41036367 41036367 G A rs374050616 RMDN3 Nonsynonymous SNV P289L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.961 139457 chr8 97847234 97847234 T G CPQ Nonsynonymous SNV F156C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 139458 chr8 144351631 144351631 C T GLI4 Nonsynonymous SNV P22L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.11 139459 chr10 44052224 44052224 T G rs564711184 ZNF239 Nonsynonymous SNV K435T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 139460 chr19 50367493 50367493 C T rs145904995 PNKP Synonymous SNV R193R 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.89 139461 chr8 6728299 6728299 G A rs5743490 DEFB1 Synonymous SNV C37C 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 6.44 139462 chr8 144808662 144808662 G A rs201196465 FAM83H Nonsynonymous SNV P990L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.869 139463 chr19 46283581 46283581 C T rs75823295 DMPK Nonsynonymous SNV A80T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.398 139464 chr9 101536250 101536250 G A rs770988126 ANKS6 Nonsynonymous SNV T577M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 139465 chr19 932530 932530 C T ARID3A Nonsynonymous SNV P161S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 139466 chr9 1057195 1057195 G A rs146415672 DMRT2 Synonymous SNV S362S 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 5.963 139467 chr9 106857737 106857737 C T rs147385187 SMC2 Synonymous SNV D24D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 139468 chr8 144891819 144891819 C T rs372264860 SCRIB Nonsynonymous SNV A534T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.823 139469 chr19 51485677 51485677 G A KLK7 Synonymous SNV L36L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.795 139470 chr19 46998600 46998600 C A rs114874053 PNMA8B Synonymous SNV P41P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 139471 chr19 51835885 51835885 G T rs748232414 VSIG10L Nonsynonymous SNV P862T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 139472 chr8 145535197 145535197 G C HSF1 Synonymous SNV L211L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.907 139473 chr8 145057706 145057706 G T PARP10 Nonsynonymous SNV T696N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.902 139474 chr8 8748237 8748237 C T rs751061437 MFHAS1 Nonsynonymous SNV E778K 0.012 0.005 0 4 14 2 0.01 0 0 0 0 0 12.63 139475 chr9 111882170 111882170 C T rs147719369 TMEM245 Synonymous SNV K8K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.611 139476 chr15 50884671 50884671 G A rs56288221 TRPM7 Nonsynonymous SNV A1254V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 139477 chr8 145626467 145626467 G A rs781785620 CPSF1 Synonymous SNV D130D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.121 139478 chr19 49120585 49120585 G T rs201393157 RPL18 Synonymous SNV S33S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.785 139479 chr9 120176782 120176782 G A rs149140892 ASTN2 Synonymous SNV F145F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.75 139480 chr15 57210590 57210590 G A rs978612369 LOC145783 0 0 0.003 0 0 0 0 1 0 0 0 0 5.337 139481 chr9 120476556 120476556 C T TLR4 Nonsynonymous SNV A517V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 139482 chr9 123220848 123220848 G A rs202244167 CDK5RAP2 Nonsynonymous SNV T752M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 139483 chr9 117014922 117014922 C T rs199560910 COL27A1 Nonsynonymous SNV S1028L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 139484 chr8 146029083 146029083 C T ZNF517 Synonymous SNV L31L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.19 139485 chr15 59063607 59063607 C T rs763060685 MINDY2 Nonsynonymous SNV P5S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 139486 chr15 59359147 59359147 C T RNF111 Synonymous SNV H517H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.94 139487 chr9 101765770 101765770 G A rs774960858 COL15A1 Synonymous SNV V367V 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 0.066 139488 chr15 60758844 60758844 T C rs141928868 ICE2 Synonymous SNV K22K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.321 139489 chr8 17611963 17611963 T C rs201419670 MTUS1 Nonsynonymous SNV K452E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.61 139490 chr19 2989194 2989194 G A rs780786928 TLE6 Synonymous SNV T169T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.497 139491 chr15 64025249 64025249 T C rs369604966 HERC1 Synonymous SNV L914L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.132 139492 chr19 50101175 50101175 G A PRR12 Nonsynonymous SNV D1195N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 139493 chr19 50208347 50208347 C T rs140099471 CPT1C Synonymous SNV R285R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.39 139494 chr19 50338260 50338260 C - MED25 H502Tfs*95 0.001 0 0 0 1 0 0 0 0 0 0 0 139495 chr15 65578620 65578620 G A rs780328703 PARP16 Nonsynonymous SNV R49C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 139496 chr19 50549092 50549092 C T rs140202862 ZNF473 Synonymous SNV C452C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.956 139497 chr9 126132826 126132826 G T rs144803819 CRB2 Nonsynonymous SNV W498C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.7 139498 chr15 68120354 68120354 C T rs200956599 SKOR1 Nonsynonymous SNV R730W 0.002 0 0.01 0 2 0 0 3 0 0 0 0 23.3 139499 chr19 4307900 4307900 C T rs145440493 FSD1 Nonsynonymous SNV R89W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 139500 chr9 113704413 113704413 G A rs34483952 LPAR1 Synonymous SNV N27N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.795 139501 chr15 70976776 70976776 G A rs145754980 UACA Synonymous SNV L191L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 139502 chr15 72534283 72534283 C T rs780602299 PARP6 Synonymous SNV V564V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 139503 chr19 51518067 51518067 G A rs370110864 KLK10 Nonsynonymous SNV R274C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 139504 chr8 125083831 125083831 A G rs200430005 FER1L6 Nonsynonymous SNV N1351D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.7 139505 chr8 26501018 26501018 G A rs372408415 DPYSL2 Nonsynonymous SNV S397N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.32 139506 chr9 130605471 130605471 C T rs199675436 ENG Nonsynonymous SNV E41K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Uncertain significance 5.156 139507 chr19 51870771 51870771 C A rs61737052 CLDND2 Nonsynonymous SNV V124F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.2 139508 chr8 24813597 24813597 C A NEFL Nonsynonymous SNV D145Y 0 0.003 0 0 0 1 0 0 0 0 0 0 17.99 139509 chr15 75045543 75045543 G A rs915586110 CYP1A2 Synonymous SNV T395T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.342 139510 chr9 131117349 131117349 G C SLC27A4 Nonsynonymous SNV V448L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.3 139511 chr15 75145801 75145801 G C SCAMP2 Nonsynonymous SNV Q88E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.22 139512 chr9 131609026 131609026 A C KYAT1 Nonsynonymous SNV V70G 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.393 139513 chr15 76552164 76552164 - TCTGGAGGGGTAGGT rs562692286 TYRO3P 0 0 0.078 0 0 0 0 23 0 0 0 0 139514 chr15 76552183 76552183 G T TYRO3P 0 0 0.037 0 0 0 0 11 0 0 0 0 0.298 139515 chr15 76552186 76552186 A G TYRO3P 0 0 0.041 0 0 0 0 12 0 0 0 0 3.67 139516 chr9 132848736 132848736 G A rs781026462 GPR107 Nonsynonymous SNV G201D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.053 139517 chr9 120475675 120475675 A G TLR4 Synonymous SNV Q223Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.995 139518 chr9 124528783 124528783 C T rs769184160 DAB2IP Nonsynonymous SNV R367W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 139519 chr19 52869505 52869505 G A rs145486498 ZNF610 Nonsynonymous SNV E249K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.74 139520 chr8 30924558 30924558 A C rs367991517 WRN Nonsynonymous SNV T172P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Likely benign 1.389 139521 chr8 38105264 38105264 A G rs746803670 DDHD2 Nonsynonymous SNV T357A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.048 139522 chr9 131857771 131857771 C T rs775660177 CRAT Nonsynonymous SNV A596T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 139523 chr15 82387927 82387927 A C rs8033451 LINC01583 0 0 0.041 0 0 0 0 12 0 0 0 0 1.59 139524 chr19 7509120 7509120 G A rs141430742 ARHGEF18 Nonsynonymous SNV R222Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.2 139525 chr19 53117217 53117217 C T rs141690119 ZNF83 Nonsynonymous SNV G201R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.3 139526 chr8 52321098 52321098 A G rs189489601 PXDNL Nonsynonymous SNV M1029T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.481 139527 chr9 127563813 127563813 A G OLFML2A Nonsynonymous SNV K50E 0.002 0 0 0 2 0 0 0 0 0 0 0 19.64 139528 chr19 57724204 57724204 A G rs148110986 ZNF264 Nonsynonymous SNV Q580R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.287 139529 chr8 59323996 59323996 G C rs61732916 UBXN2B Nonsynonymous SNV G18R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.18 139530 chr8 59514008 59514008 C T rs144634636 NSMAF Synonymous SNV R435R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.09 139531 chr15 89449103 89449103 C T rs137911396 MFGE8 Synonymous SNV A146A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 139532 chr19 58115751 58115751 A G ZNF530 Nonsynonymous SNV N46S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.28 139533 chr8 71556453 71556461 CAGTGTGGC - rs561918644 LACTB2 G144_T146del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 139534 chr9 135470409 135470409 G C rs150458058 DDX31 Synonymous SNV A727A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.341 139535 chr9 130886050 130886050 C G rs149102151 PTGES2 Nonsynonymous SNV G206A 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 11.03 139536 chr9 131095789 131095789 G A COQ4 Stop gain W221X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 139537 chr8 70533427 70533427 G A rs202168144 SULF1 Nonsynonymous SNV R512H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 139538 chr9 131394992 131394992 G A rs200456378 SPTAN1 Synonymous SNV P2360P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.39 139539 chr9 139347953 139347953 G A rs202042941 SEC16A Nonsynonymous SNV P2029L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 139540 chr19 59011723 59011723 C T SLC27A5 Nonsynonymous SNV C400Y 0 0.003 0 0 0 1 0 0 0 0 0 0 33 139541 chr9 131678540 131678540 G A rs146661687 LRRC8A Nonsynonymous SNV E775K 0.002 0 0 0 2 0 0 0 0 0 0 0 18.67 139542 chr9 136653518 136653518 G A rs139002299 VAV2 Synonymous SNV H450H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.136 139543 chr9 131939390 131939390 G C rs761064660 IER5L Nonsynonymous SNV D314E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.11 139544 chr9 132375822 132375822 C T rs3213763 C9orf50 Nonsynonymous SNV R312Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.738 139545 chr9 132377887 132377887 C T rs2275899 C9orf50 Synonymous SNV A252A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 139546 chr9 139734873 139734873 C A rs750720011 RABL6 Nonsynonymous SNV R698S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.27 139547 chr9 132510960 132510960 G A rs3205181 PTGES Synonymous SNV S61S 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 2.044 139548 chr8 98817692 98817692 - ACATGTGCATTGCCATTGCGATTTCTCTTCTCATGATCCT LAPTM4B Frameshift insertion I85Hfs*40 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 139549 chr9 139912346 139912346 A G ABCA2 Nonsynonymous SNV F702L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.508 139550 chr9 133738371 133738371 C T rs200984542 ABL1 Synonymous SNV Y257Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 139551 chr15 94899388 94899388 G A rs77311454 MCTP2 Nonsynonymous SNV R343Q 0.004 0.003 0.01 4 5 1 0.01 3 0 0 0 0 Likely benign 24.2 139552 chr8 94808140 94808140 T C rs756722828 TMEM67 Synonymous SNV S595S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.462 139553 chr9 140002875 140002875 C T rs34355967 MAN1B1 Synonymous SNV V644V 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.11 139554 chr9 134136719 134136719 G A rs61737026 FAM78A Synonymous SNV P114P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.03 139555 chr9 140140104 140140104 G T rs13300833 FAM166A Synonymous SNV I86I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.251 139556 chr9 134350067 134350067 A G rs367986692 PRRC2B Nonsynonymous SNV R851G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 139557 chr8 96070126 96070126 A T NDUFAF6 Synonymous SNV P210P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.425 139558 chr16 11272305 11272305 G A rs74163628 CLEC16A Nonsynonymous SNV V974M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.825 139559 chr9 135251410 135251410 G A rs201618724 TTF1 Synonymous SNV D355D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.191 139560 chr9 17135259 17135259 C T rs2774619 CNTLN Nonsynonymous SNV R66W 0.003 0 0.01 0 4 0 0 3 0 0 0 0 32 139561 chr9 140158714 140158714 C T rs867700400 NELFB Synonymous SNV D315D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 139562 chr19 9324941 9324941 G A rs150218834 OR7D4 Synonymous SNV N191N 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.032 139563 chr19 10080337 10080337 G T rs752761129 COL5A3 Nonsynonymous SNV P1338T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 139564 chr9 18887959 18887959 C T rs149522121 ADAMTSL1 Synonymous SNV S1460S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.29 139565 chr9 20923686 20923686 G A rs767333672 FOCAD Synonymous SNV A960A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.43 139566 chr20 3652582 3652582 C T rs139672396 ADAM33 Nonsynonymous SNV D550N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.28 139567 chr20 3672813 3672813 T C SIGLEC1 Nonsynonymous SNV D1356G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 139568 chr9 136559493 136559493 C T SARDH Nonsynonymous SNV G603D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 139569 chr9 14824900 14824900 C T rs745847051 FREM1 Nonsynonymous SNV V658M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 139570 chr9 16419519 16419519 G A rs117452684 BNC2 Nonsynonymous SNV A828V 0.015 0.013 0.024 6 18 5 0.015 7 0 0 0 0 Benign/Likely benign 15.46 139571 chr19 57286761 57286761 A G rs140365339 ZIM2 Synonymous SNV N293N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 139572 chr19 10445806 10445806 C T rs3181047 ICAM3 Synonymous SNV E30E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 5.165 139573 chr9 113170323 113170323 G A rs111722103 SVEP1 Synonymous SNV T2519T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.281 139574 chr19 10449514 10449514 T C rs17697947 ICAM3 Nonsynonymous SNV I63V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 0.001 139575 chr19 10531491 10531491 C T rs117495488 PDE4A Synonymous SNV P17P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.97 139576 chr19 10531609 10531609 C T rs201432982 PDE4A Nonsynonymous SNV R57W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 139577 chr9 138585501 138585501 G T rs373116244 SOHLH1 Nonsynonymous SNV A369E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.42 139578 chr19 10624838 10624838 C T rs150461309 S1PR5 Nonsynonymous SNV V284I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.708 139579 chr9 312154 312154 A G rs546289263 DOCK8 Synonymous SNV P175P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.038 139580 chr9 2039799 2039799 A C rs145635937 SMARCA2 Nonsynonymous SNV Q230P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 7.243 139581 chr8 23059432 23059432 T C rs1032709564 TNFRSF10A Nonsynonymous SNV D173G 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 1.732 139582 chr9 112219614 112219614 T C rs150949930 PTPN3 Synonymous SNV E68E 0 0.008 0 0 0 3 0 0 0 0 0 0 1.273 139583 chr9 33941786 33941786 G A rs140922028 UBAP2 Nonsynonymous SNV S544F 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 27.5 139584 chr9 21305217 21305217 C T rs752030893 IFNA5 Synonymous SNV V13V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.166 139585 chr9 139566735 139566735 G A rs148608089 EGFL7 Synonymous SNV S273S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 8.336 139586 chr19 58117755 58117755 G T rs917365206 ZNF530 Nonsynonymous SNV V288F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 139587 chr9 34256375 34256375 G A rs34101674 KIF24 Nonsynonymous SNV T1077M 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 0.679 139588 chr11 102709339 102709339 G A rs185081958 MMP3 Nonsynonymous SNV A391V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 26.1 139589 chr9 37493632 37493632 G A rs914335287 POLR1E Nonsynonymous SNV G160D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 20.3 139590 chr16 2143014 2143014 G A rs778200179 PKD1, LOC105371049 Synonymous SNV Y3698Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 139591 chr9 37761972 37761972 C T rs201086353 TRMT10B Nonsynonymous SNV P15L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.28 139592 chr9 4572254 4572254 C T rs143022823 SLC1A1 Synonymous SNV N211N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.84 139593 chr19 14951900 14951900 C T OR7A10 Nonsynonymous SNV A264T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 139594 chr9 5968303 5968303 T C rs201096994 KIAA2026 Nonsynonymous SNV H643R 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 23.2 139595 chr20 1286403 1286403 C T rs183333437 SNPH Nonsynonymous SNV S397L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.94 139596 chr16 24909295 24909295 G A rs35825308 SLC5A11 Nonsynonymous SNV V221M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 29.9 139597 chr11 1093790 1093790 C T rs368249191 MUC2 Nonsynonymous SNV T1870M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.267 139598 chr9 35906601 35906601 - CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA HRCT1 H107_R108insHHPHHTPHHLHHHHHHHH 0.004 0.016 0 4 5 6 0.01 0 2 2 0 1 139599 chr9 123908523 123908523 C T rs192079395 CNTRL Nonsynonymous SNV P598S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.653 139600 chr16 29831040 29831040 G A rs151236490 PAGR1 Nonsynonymous SNV G244R 0 0 0.003 0 0 0 0 1 0 0 0 0 29 139601 chr16 29937333 29937333 G A KCTD13 Nonsynonymous SNV P8S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 139602 chr20 1896018 1896018 C T rs138711836 SIRPA Nonsynonymous SNV T118I 0.002 0 0 0 2 0 0 0 0 0 0 0 21 139603 chr9 79118092 79118092 G A rs41288759 GCNT1 Synonymous SNV K265K 0.006 0.016 0.003 1 7 6 0.003 1 0 0 0 0 3.315 139604 chr9 126132568 126132568 C T rs55641439 CRB2 Synonymous SNV I412I 0.012 0.01 0.01 2 14 4 0.005 3 0 0 0 0 Benign 13.51 139605 chr20 33657147 33657147 T A rs146932478 TRPC4AP Nonsynonymous SNV E122D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 139606 chr19 17000965 17000965 G A rs370634215 F2RL3 Nonsynonymous SNV A231T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.7 139607 chr9 2718833 2718833 C T rs547033951 KCNV2 Nonsynonymous SNV T365M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 139608 chr9 84200433 84200433 T C rs746204682 TLE1 Synonymous SNV K715K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.71 139609 chr20 34828328 34828328 C T rs200929659 AAR2 Nonsynonymous SNV R180C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 139610 chr9 32542793 32542793 G T rs79708790 TOPORS Nonsynonymous SNV S512Y 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 21.2 139611 chr20 3888765 3888766 CT - rs750440690 PANK2 L275Vfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 139612 chr11 117869591 117869591 C T rs2229115 IL10RA Synonymous SNV T324T 0.009 0.023 0.007 2 10 9 0.005 2 0 0 0 0 Benign 11.11 139613 chr20 39801224 39801224 C T PLCG1 Synonymous SNV Y1023Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.22 139614 chr9 33442963 33442963 T C AQP3 Nonsynonymous SNV I127V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 139615 chr11 118374296 118374296 A G rs9332840 KMT2A Synonymous SNV S2563S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.934 139616 chr11 118376816 118376816 G A rs9332843 KMT2A Synonymous SNV P3403P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 9.58 139617 chr11 118404196 118404196 A C rs7129371 TMEM25 Synonymous SNV A148A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.806 139618 chr11 118770108 118770108 G A rs374703839 BCL9L Synonymous SNV P1172P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.18 139619 chr9 34889402 34889402 C T FAM205C Nonsynonymous SNV E326K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.477 139620 chr9 130509464 130509464 G A rs767303936 SH2D3C Nonsynonymous SNV P251L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 139621 chr9 95618107 95618107 C - rs772916837 ZNF484 S38Ifs*42 0.001 0.003 0 0 1 1 0 0 0 0 0 0 139622 chr20 43379383 43379383 C G rs199821276 KCNK15 Nonsynonymous SNV C299W 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 8.994 139623 chr9 35562552 35562552 G A rs199707796 FAM166B Synonymous SNV P188P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.48 139624 chr9 130648864 130648864 A C rs547925936 ST6GALNAC6 Nonsynonymous SNV W338G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.258 139625 chr9 35740293 35740293 C G rs142607078 GBA2 Nonsynonymous SNV R399P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.35 139626 chr16 3779612 3779612 G C rs61731405 CREBBP Synonymous SNV T1774T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.114 139627 chr9 131469190 131469190 C A rs56251280 PKN3 Nonsynonymous SNV A180E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.5 139628 chr9 131019418 131019418 C G rs745343589 GOLGA2 Nonsynonymous SNV L967F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 139629 chr9 88650332 88650332 C G rs61741197 GOLM1 Nonsynonymous SNV Q322H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 139630 chr19 17986763 17986763 C T rs8103545 SLC5A5 Synonymous SNV G182G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 12.01 139631 chr19 17988794 17988794 C T rs35209536 SLC5A5 Synonymous SNV V287V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.76 139632 chr19 17994836 17994836 G A rs73520745 SLC5A5 Nonsynonymous SNV D503N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 6.108 139633 chr8 74585388 74585388 G A STAU2 Nonsynonymous SNV P84S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 139634 chrX 101858203 101858203 C G rs200145435 ARMCX5 Nonsynonymous SNV D378E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.001 139635 chr9 93637031 93637031 A G rs201460357 SYK Nonsynonymous SNV K338E 0.002 0 0 0 2 0 0 0 0 0 0 0 25 139636 chr9 132620855 132620855 C A rs36086252 USP20 Nonsynonymous SNV S103Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.83 139637 chr20 45217829 45217829 C T rs200657221 SLC13A3 Nonsynonymous SNV R279Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.95 139638 chrX 107224976 107224976 G A rs41304466 TEX13B Stop gain Q128X 0.002 0.005 0.003 0 2 2 0 1 0 1 0 0 26.3 139639 chr9 133759712 133759712 T G rs201278085 ABL1 Nonsynonymous SNV S679A 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 0.001 139640 chr11 123676159 123676159 T C rs368048243 OR6M1 Nonsynonymous SNV E300G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.78 139641 chr9 5770093 5770093 A G rs200822292 RIC1 Nonsynonymous SNV E1107G 0.002 0 0.01 0 2 0 0 3 0 0 0 0 24.4 139642 chr9 95396692 95396692 C A IPPK Synonymous SNV G382G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.55 139643 chr20 21687305 21687305 C T rs17861030 PAX1 Synonymous SNV V172V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.318 139644 chr20 23345727 23345727 C G rs139046142 GZF1 Nonsynonymous SNV P236R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 139645 chr9 6981041 6981041 G A rs10975949 KDM4C Synonymous SNV T165T 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 11.26 139646 chr9 134073689 134073689 G A rs747762818 NUP214 Nonsynonymous SNV S429N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.84 139647 chr9 71833230 71833230 G A rs72709079 TJP2 Synonymous SNV S103S 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Benign/Likely benign 12.24 139648 chr9 134151541 134151541 C A rs771339476 FAM78A Nonsynonymous SNV W9L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.93 139649 chrX 117785971 117785971 C T DOCK11 Synonymous SNV S1542S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.75 139650 chr16 55613029 55613029 C T rs144984008 LPCAT2 Synonymous SNV D441D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 139651 chrX 119760594 119760594 G A rs45557031 C1GALT1C1 Nonsynonymous SNV A143V 0.011 0.01 0.007 3 13 4 0.008 2 4 0 1 1 Benign 25.1 139652 chr16 57562621 57562621 G A CCDC102A Synonymous SNV L157L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.408 139653 chr9 136198806 136198806 G A rs587776112 SURF6 Synonymous SNV L329L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.577 139654 chr16 58318587 58318587 G A rs142166944 PRSS54 Synonymous SNV I88I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.441 139655 chr9 136916708 136916708 G A rs745603666 BRD3 Nonsynonymous SNV P159S 0 0.003 0 4 0 1 0.01 0 0 0 0 0 22.5 139656 chrX 11316235 11316235 C T rs996514040 AMELX Stop gain Q39X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 139657 chr20 58455447 58455447 A G rs151163205 SYCP2 Nonsynonymous SNV I951T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 25.3 139658 chr20 34459652 34459652 G T rs149794718 PHF20 Nonsynonymous SNV A395S 0.003 0 0 0 3 0 0 0 0 0 0 0 5.091 139659 chr9 138709873 138709873 C T rs762605730 CAMSAP1 Synonymous SNV A1407A 0.002 0.003 0 7 2 1 0.018 0 0 0 0 0 14.82 139660 chr9 139115950 139115950 G T rs375521022 QSOX2 Synonymous SNV R163R 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 7.935 139661 chr16 67913786 67913791 AGCAGC - rs747465973 EDC4 S628_S629del 0 0 0.003 0 0 0 0 1 0 0 0 0 139662 chr20 60892450 60892450 C T rs148169370 LAMA5 Nonsynonymous SNV A2488T 0.007 0.01 0.007 4 8 4 0.01 2 0 0 0 0 24.9 139663 chr20 37263364 37263364 C T rs752769180 ARHGAP40 Synonymous SNV T294T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 139664 chr11 125658061 125658061 C G rs957982097 PATE3 Nonsynonymous SNV F5L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.74 139665 chr16 69727620 69727620 G T rs771597579 NFAT5 Nonsynonymous SNV A1073S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.505 139666 chr9 94123998 94123998 G A rs776359681 AUH Synonymous SNV A58A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.08 139667 chr16 70711706 70711706 C T rs772470788 MTSS2 Nonsynonymous SNV A241T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 139668 chr9 107531232 107531241 CATTGATAAA - NIPSNAP3B I121Kfs*8 0.002 0 0 5 2 0 0.013 0 0 0 0 0 139669 chrX 100169528 100169528 A C rs747477826 XKRX Nonsynonymous SNV I383M 0.003 0 0 0 3 0 0 0 1 0 0 0 15.81 139670 chrX 152159654 152159654 C T PNMA5 Synonymous SNV S163S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 139671 chr9 111618176 111618176 G A rs544806115 ACTL7B Nonsynonymous SNV T12M 0 0.003 0 4 0 1 0.01 0 0 0 0 0 22.5 139672 chr20 61944253 61944253 G A rs376373104 COL20A1 Synonymous SNV T681T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.242 139673 chr20 61950933 61950933 C T rs764109544 COL20A1 Synonymous SNV F967F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.87 139674 chrX 152827598 152827598 C G ATP2B3 Synonymous SNV V1019V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.298 139675 chr16 7383085 7383085 T C rs147525462 RBFOX1 Nonsynonymous SNV I28T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 10.16 139676 chrX 10162970 10162970 C T rs749839151 CLCN4 Synonymous SNV I88I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.57 139677 chrX 105449952 105449952 A T rs771096398 PWWP3B Nonsynonymous SNV D176V 0.007 0 0 0 8 0 0 0 2 0 0 0 0.094 139678 chr16 75269490 75269490 C A rs369603893 BCAR1 Nonsynonymous SNV R226L 0 0 0.003 0 0 0 0 1 0 0 0 0 26 139679 chr9 140289771 140289771 G A rs368566298 EXD3 Synonymous SNV G13G 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 2.051 139680 chrX 150841051 150841051 C T rs367708659 PASD1 Nonsynonymous SNV P612S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 139681 chr9 114820753 114820753 C A SUSD1 Synonymous SNV G688G 0 0 0 2 0 0 0.005 0 0 0 0 0 13.57 139682 chrX 153760923 153760923 G C rs138746997 G6PD Nonsynonymous SNV H412Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.974 139683 chr9 15587623 15587623 G T rs576705424 CCDC171 Nonsynonymous SNV S2I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.987 139684 chr20 48892243 48892243 A G rs772829002 SMIM25 Nonsynonymous SNV I13V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.924 139685 chr21 22804614 22804614 T G rs753531039 NCAM2 Nonsynonymous SNV I556S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.869 139686 chr9 140328430 140328430 G A rs200100435 NOXA1 Nonsynonymous SNV R342Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.3 139687 chr16 81730263 81730263 C T rs369550544 CMIP Synonymous SNV F449F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 139688 chr16 81737633 81737633 C T rs148329969 CMIP Synonymous SNV C584C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 139689 chr9 140409842 140409842 G A rs140581167 PNPLA7 Nonsynonymous SNV S380L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.49 139690 chr16 81914553 81914553 C A PLCG2 Synonymous SNV I229I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 139691 chr21 30926024 30926024 G A rs363503 GRIK1 Nonsynonymous SNV A870V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 22.6 139692 chrX 18925155 18925155 G A rs375687463 PHKA2 Nonsynonymous SNV R860W 0.007 0.008 0.007 0 8 3 0 2 1 1 1 0 35 139693 chr20 56285566 56285566 C G rs371865419 NKILA 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.053 139694 chr11 18955784 18955784 C G MRGPRX1 Nonsynonymous SNV W183S 0.009 0.005 0 6 11 2 0.015 0 0 0 0 1 21.8 139695 chr11 19256605 19256605 T C rs144450449 E2F8 Nonsynonymous SNV N151S 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 21.1 139696 chr9 32984856 32984856 C G APTX 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 139697 chr16 85743906 85743906 T A rs141454251 C16orf74 Nonsynonymous SNV Q12H 0.005 0.018 0.014 4 6 7 0.01 4 0 0 0 0 22.7 139698 chr21 34860833 34860833 T G rs78121368 DNAJC28 Nonsynonymous SNV K290Q 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 0.158 139699 chr21 34861336 34861341 TCTTCT - rs368520867 DNAJC28 E120_E121del 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 139700 chr21 34861444 34861444 G A rs144266803 DNAJC28 Nonsynonymous SNV T86I 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 15.77 139701 chr21 34889888 34889888 A G rs151206034 GART Nonsynonymous SNV M577T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 19.71 139702 chr21 34897281 34897281 G C rs139633075 GART Nonsynonymous SNV L365V 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 14.62 139703 chr21 34903861 34903861 C A rs142038738 GART Nonsynonymous SNV E177D 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 8.326 139704 chr11 20907061 20907061 G A rs144555978 NELL1 Nonsynonymous SNV R136H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.4 139705 chr21 34924549 34924549 T C rs148794591 SON Synonymous SNV A1004A 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Benign 0.24 139706 chr21 34925936 34925936 A G rs142751481 SON Nonsynonymous SNV I1467V 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Benign 0.001 139707 chr21 34926388 34926388 A G rs146914239 SON Synonymous SNV A1617A 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Benign 5.411 139708 chr21 34951753 34951753 T G rs146664036 DONSON Nonsynonymous SNV K489T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.7 139709 chrX 48895941 48895941 C T rs781887371 TFE3 Synonymous SNV T82T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.32 139710 chr9 35906583 35906583 T A rs112821450 HRCT1 Nonsynonymous SNV L100H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.796 139711 chrX 70352773 70352773 A G MED12 Synonymous SNV G1498G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.41 139712 chrX 53576097 53576097 G C rs781980925 HUWE1 Synonymous SNV L3286L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.342 139713 chr20 61916250 61916250 C T ARFGAP1 Synonymous SNV N137N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 139714 chr9 34892685 34892685 T C rs559293334 FAM205C Nonsynonymous SNV N239S 0.005 0.01 0 0 6 4 0 0 0 0 0 0 0.96 139715 chrX 86887226 86887226 A G rs571811148 KLHL4 Synonymous SNV E447E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.168 139716 chr9 4572312 4572312 G C SLC1A1 Nonsynonymous SNV E231Q 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.4 139717 chrX 9905203 9905203 C T rs760932152 SHROOM2 Nonsynonymous SNV T41M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 139718 chr20 62577610 62577610 G A rs774871071 UCKL1 Synonymous SNV G90G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.747 139719 chr10 100017875 100017875 C T rs140193739 LOXL4 Nonsynonymous SNV R323Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 139720 chrX 71349933 71349933 A G RTL5 Synonymous SNV S486S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 139721 chr16 88909188 88909188 G A rs148197417 GALNS Nonsynonymous SNV P57L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 139722 chrX 71379731 71379731 A C FLJ44635 Nonsynonymous SNV M18L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.939 139723 chrX 71416722 71416722 G T rs144390339 PIN4 Nonsynonymous SNV A94S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 139724 chrX 71521798 71521798 T C rs1804686 CITED1 Synonymous SNV G119G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.099 139725 chrX 53263662 53263662 C T rs1057521782 IQSEC2 Synonymous SNV A1402A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.85 139726 chr10 102089732 102089732 C T rs141380062 PKD2L1 Synonymous SNV T43T 0.003 0 0 0 4 0 0 0 0 0 0 0 10.79 139727 chrX 9905240 9905240 G C SHROOM2 Nonsynonymous SNV E53D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 139728 chr9 131671142 131671142 G A rs143836544 LRRC8A Nonsynonymous SNV V567M 0 0 0.01 4 0 0 0.01 3 0 0 0 0 Likely benign 17.17 139729 chrX 54836238 54836238 G A rs140063708 MAGED2 Synonymous SNV P43P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.551 139730 chr10 103827362 103827362 - A HPS6 Stop gain Y711* 0.003 0 0 0 4 0 0 0 0 0 0 0 139731 chr16 90110195 90110195 C T rs3743823 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 8.187 139732 chr10 104231089 104231089 G A rs139312499 MFSD13A Nonsynonymous SNV R255Q 0.003 0 0 0 4 0 0 0 0 0 0 0 16.23 139733 chr10 101640015 101640015 G A rs141646596 DNMBP Synonymous SNV H999H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.624 139734 chr10 105207308 105207308 G A rs199853286 CALHM2 Synonymous SNV L191L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.3 139735 chr9 8500881 8500881 C T rs138805005 PTPRD Synonymous SNV S667S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 139736 chr9 86284158 86284158 G A UBQLN1 Nonsynonymous SNV A397V 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 25.6 139737 chr21 46117249 46117249 - C rs781809501 KRTAP10-12 Frameshift insertion C47Lfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 139738 chr17 11881593 11881593 G A rs766643102 ZNF18 Nonsynonymous SNV A444V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 139739 chr17 12608271 12608271 T C rs8073609 LOC101928418 0 0 0.017 0 0 0 0 5 0 0 1 0 0.077 139740 chr17 12639505 12639505 C T rs138416805 MYOCD Nonsynonymous SNV T148M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 139741 chrX 84569511 84569511 G A rs200954279 POF1B Nonsynonymous SNV S295L 0.003 0 0 0 3 0 0 0 1 0 0 0 13.45 139742 chr17 1387470 1387470 C T rs571270891 MYO1C Nonsynonymous SNV R68Q 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 139743 chr21 47412687 47412687 G A rs151158105 COL6A1 Nonsynonymous SNV R433Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 16.07 139744 chr9 94495639 94495639 G A rs559697443 ROR2 Synonymous SNV F234F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 13.67 139745 chr9 98211412 98211412 C G rs375857496 PTCH1 Nonsynonymous SNV G1196A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.012 139746 chr10 116059086 116059086 G T rs199911657 AFAP1L2 Synonymous SNV I599I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.43 139747 chr17 17069175 17069175 G T MPRIP Nonsynonymous SNV G1456C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 139748 chrX 104464773 104464773 G A TEX13A Synonymous SNV A103A 0 0.005 0 0 0 2 0 0 0 1 0 0 2.572 139749 chrX 106109101 106109101 G A rs200442529 TBC1D8B Nonsynonymous SNV E834K 0.002 0.01 0 1 2 4 0.003 0 0 2 0 0 31 139750 chr17 18181540 18181540 G A rs527777765 TOP3A Nonsynonymous SNV A664V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.607 139751 chr19 46394100 46394100 C T rs142323830 MYPOP Synonymous SNV P327P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 8.921 139752 chr10 119134561 119134561 G A PDZD8 Nonsynonymous SNV L60F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.731 139753 chr9 139252662 139252662 G A GPSM1 Nonsynonymous SNV G164D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 139754 chr17 21086999 21086999 C A DHRS7B Synonymous SNV G119G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 139755 chr17 21087000 21087000 T G DHRS7B Nonsynonymous SNV Y120D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 139756 chr17 21205483 21205483 T C rs752339522 MAP2K3 Nonsynonymous SNV M114T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.5 139757 chrX 13337189 13337189 T A rs772014789 ATXN3L Stop gain K289X 0.003 0.005 0 0 3 2 0 0 1 1 0 0 Likely benign 32 139758 chrX 118108905 118108905 A G rs376203578 LONRF3 Synonymous SNV P54P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.012 139759 chr17 2280049 2280049 G C rs746902247 SGSM2 Nonsynonymous SNV V833L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 139760 chrX 12906228 12906228 G A rs138633665 TLR7 Synonymous SNV V867V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.788 139761 chrX 129159340 129159340 G A rs141666104 BCORL1 Nonsynonymous SNV R1355Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 25.6 139762 chr10 124797364 124797364 G A rs147936696 ACADSB 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 139763 chr17 2600065 2600065 G A CLUH Synonymous SNV G711G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 139764 chr17 263836 263836 A G C17orf97 Nonsynonymous SNV N401S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.974 139765 chrX 152662706 152662706 G A rs113763210 PNMA6E Synonymous SNV P534P 0.003 0.008 0 0 4 3 0 0 2 1 0 0 0.349 139766 chr22 24515548 24515548 G A rs144331024 CABIN1 Synonymous SNV R1455R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 139767 chr21 46945774 46945774 A G rs138047632 SLC19A1 Nonsynonymous SNV I377T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 139768 chr21 47417373 47417373 C T rs762625409 COL6A1 Synonymous SNV G479G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.65 139769 chr17 27042684 27042684 T A rs116140366 RAB34 Synonymous SNV A118A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.191 139770 chrX 18942557 18942557 G A rs983227223 PHKA2 Synonymous SNV T552T 0 0.005 0 0 0 2 0 0 0 1 0 0 9.468 139771 chr17 28296201 28296203 AAG - rs143784264 EFCAB5 K141del 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 139772 chr21 47832897 47832897 C T rs144445891 PCNT Synonymous SNV D1929D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.41 139773 chr17 29119559 29119559 C G rs16963556 CRLF3 Synonymous SNV L286L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.5 139774 chr17 29159395 29159395 A C ATAD5 Synonymous SNV A10A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.342 139775 chr17 29226348 29226348 T A rs61743157 TEFM Nonsynonymous SNV I308L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20.2 139776 chr17 29632471 29632471 C T rs9903564 EVI2B Nonsynonymous SNV G53R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.507 139777 chrX 140994589 140994589 - AGAGT MAGEC1 Frameshift insertion H467Qfs*18 0.002 0.013 0 5 2 5 0.013 0 0 1 0 2 139778 chr17 30179889 30179889 G A rs140709694 COPRS Synonymous SNV G97G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.936 139779 chr9 17462985 17462985 A C rs142750793 CNTLN Nonsynonymous SNV E1125D 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 19.43 139780 chr10 133981844 133981844 G - rs113223606 JAKMIP3 A974Lfs*26 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 139781 chr10 133981845 133981845 C T rs561529761 JAKMIP3 Nonsynonymous SNV A974V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 1.705 139782 chrX 148568562 148568562 G C rs61736891 IDS Synonymous SNV P358P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.155 139783 chr11 5363832 5363832 T C rs758174001 OR51B5 Nonsynonymous SNV H308R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 139784 chr17 33586456 33586456 G A rs138492925 SLFN5 Synonymous SNV T249T 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 7.986 139785 chr17 33592422 33592422 C A SLFN5 Nonsynonymous SNV Q731K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 139786 chr22 21990822 21990822 C T rs115937546 CCDC116 Synonymous SNV L435L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 12.61 139787 chr22 31850131 31850131 C T rs771724646 EIF4ENIF1 Nonsynonymous SNV S504N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.082 139788 chr10 135203208 135203208 A C PAOX Nonsynonymous SNV D450A 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 29.5 139789 chr9 32631373 32631373 A T rs779205538 TAF1L Nonsynonymous SNV V1402E 0 0 0 2 0 0 0.005 0 0 0 0 0 21.4 139790 chr22 22869720 22869720 A G rs144640140 ZNF280A Nonsynonymous SNV F79L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 139791 chr10 14939067 14939067 A C rs45473500 SUV39H2 Synonymous SNV R74R 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 0.012 139792 chrX 21624952 21624952 A G rs779095649 CNKSR2 Synonymous SNV Q621Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.038 139793 chrX 25014016 25014016 C T rs11573531 POLA1 Synonymous SNV Y1452Y 0.01 0.008 0 3 12 3 0.008 0 3 0 0 1 Benign 11.44 139794 chr22 36907585 36907590 TCATCT - EIF3D D532_E533del 0 0.003 0 0 0 1 0 0 0 0 0 0 139795 chr17 36905770 36905773 TCCC - rs150903970 LOC100287808 0 0 0.017 0 0 0 0 5 0 0 0 0 139796 chr17 37228837 37228837 T C rs570391702 RDM1P5 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 1.774 139797 chrX 3002337 3002337 C T rs780889056 ARSF Nonsynonymous SNV P154S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 139798 chr1 17944918 17944918 C T rs549700771 ARHGEF10L Nonsynonymous SNV R24W 0.002 0 0 0 2 0 0 0 0 0 0 0 19.71 139799 chr1 18023654 18023654 G A rs200263784 ARHGEF10L Nonsynonymous SNV D910N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 32 139800 chr17 3845926 3845926 C T ATP2A3 Nonsynonymous SNV G507S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.237 139801 chr22 29704662 29704662 C T rs56037813 GAS2L1 Synonymous SNV P189P 0.003 0 0.014 0 4 0 0 4 0 0 0 0 13.4 139802 chrX 39922315 39922315 A C BCOR Nonsynonymous SNV V1234G 0.003 0.013 0 3 4 5 0.008 0 0 2 0 0 8.537 139803 chr17 38975103 38975103 - GCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT KRT10 G565_H566insGYGGGSSSGGGYGGGSSSGGGYGGGSSSGG 0 0.003 0.007 0 0 1 0 2 0 0 0 0 139804 chrX 47842356 47842356 G T rs150066211 ZNF182 Nonsynonymous SNV N75K 0.007 0.01 0.007 3 8 4 0.008 2 2 0 1 1 0.151 139805 chr10 101571334 101571334 C T ABCC2 Nonsynonymous SNV H648Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 139806 chrX 49143288 49143288 C T rs146047715 PPP1R3F Synonymous SNV A366A 0.003 0.008 0 0 4 3 0 0 1 0 0 0 2.81 139807 chr22 31478942 31478942 G A rs73408133 SMTN Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.474 139808 chr10 32096591 32096591 G A rs369923596 ARHGAP12 Nonsynonymous SNV R794C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 139809 chr10 44141660 44141669 AAAAACAAAC - ZNF32-AS2 0.002 0 0 0 2 0 0 0 0 0 0 0 139810 chr10 45941076 45941076 A C rs140481567 ALOX5 Nonsynonymous SNV K599Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.5 139811 chr9 82337407 82337407 A C rs34566811 TLE4 Synonymous SNV A582A 0.003 0 0 5 4 0 0.013 0 0 0 0 0 Benign 3.34 139812 chr9 86588282 86588282 G A rs116557087 HNRNPK Synonymous SNV C121C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 10.29 139813 chr10 105891209 105891209 G A rs367775668 CFAP43 Synonymous SNV L1571L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.805 139814 chr9 94874763 94874763 G A rs748093641 SPTLC1 Stop gain Q47X 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Uncertain significance 36 139815 chr10 3823976 3823976 C T rs754239177 KLF6 Nonsynonymous SNV G178E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.48 139816 chr9 96291928 96291928 T C rs759789168 FAM120A Synonymous SNV F600F 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 17.08 139817 chr17 4088208 4088208 G C rs199874751 ANKFY1 Nonsynonymous SNV T577S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 139818 chr1 27219226 27219226 G A rs371925832 GPATCH3 Stop gain R390X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 139819 chr10 49933965 49933965 G A rs368696574 WDFY4 Nonsynonymous SNV G211R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 139820 chr10 50738781 50738781 T C rs4253027 ERCC6 Synonymous SNV R176R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.349 139821 chr1 31191777 31191777 G A rs752876629 MATN1 Nonsynonymous SNV P157S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 139822 chr1 31191778 31191778 C A rs760765960 MATN1 Nonsynonymous SNV R156S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 139823 chr17 45412715 45412715 A T rs201488583 EFCAB13 Stop gain K62X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 139824 chr22 51017617 51017619 GAG - CHKB S395del 0 0.003 0 0 0 1 0 0 0 0 0 0 139825 chr10 106124511 106124511 T C rs144185091 CFAP58 Nonsynonymous SNV F154S 0.009 0 0 1 11 0 0.003 0 0 0 0 0 14.04 139826 chr10 108339106 108339106 C T rs754367774 SORCS1 Nonsynonymous SNV R1131H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 139827 chr10 123256121 123256121 C T rs56335660 FGFR2 Synonymous SNV E484E 0.007 0 0 2 8 0 0.005 0 0 0 0 0 Benign/Likely benign 16.43 139828 chr1 34052114 34052114 C T rs41265915 CSMD2 Synonymous SNV P2347P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 139829 chr22 44168808 44168808 C T rs150752335 EFCAB6 Synonymous SNV P105P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 139830 chr17 4693413 4693413 C A rs371108166 GLTPD2 Nonsynonymous SNV T233N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.8 139831 chr10 64966632 64966632 A G rs200715648 JMJD1C Synonymous SNV D1380D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.822 139832 chr10 64974401 64974401 A T rs755617043 JMJD1C Nonsynonymous SNV V290D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.3 139833 chr17 48456140 48456140 C G rs199511103 EME1 Nonsynonymous SNV S332R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.891 139834 chr19 57062121 57062121 A G ZFP28 Nonsynonymous SNV K349E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.362 139835 chr17 48941195 48941195 C T TOB1 Nonsynonymous SNV E62K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 139836 chrX 44094685 44094685 G A rs2208592 EFHC2 Nonsynonymous SNV S430F 0 0.005 0 0 0 2 0 0 0 1 0 0 0.001 139837 chrX 48403289 48403289 G T rs144855115 TBC1D25 Nonsynonymous SNV R105L 0 0.005 0 0 0 2 0 0 0 1 0 0 24.6 139838 chr22 50728807 50728807 C T rs777864512 PLXNB2 Synonymous SNV T69T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 139839 chrX 48931539 48931539 G A rs150312371 PRAF2 Synonymous SNV R36R 0 0.005 0 0 0 2 0 0 0 1 0 0 18.41 139840 chr22 50943757 50943757 G A LMF2 Nonsynonymous SNV T328I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 139841 chr10 134218682 134218682 G A rs760805837 PWWP2B Synonymous SNV A226A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.979 139842 chr10 134218973 134218973 G C PWWP2B Synonymous SNV P323P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.242 139843 chrX 65420407 65420407 C T rs141822439 HEPH Synonymous SNV N363N 0.002 0.005 0.003 0 2 2 0 1 0 1 0 0 11.53 139844 chrX 2933100 2933100 C A rs148947485 ARSH Nonsynonymous SNV P144T 0.005 0.005 0 1 6 2 0.003 0 2 0 0 0 Benign 22.7 139845 chr10 13702454 13702454 G A FRMD4A Nonsynonymous SNV S278F 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 29.8 139846 chrX 10437756 10437756 G A rs148477118 MID1 Synonymous SNV T422T 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 13.71 139847 chr10 13246284 13246284 T C rs2277221 MCM10 Synonymous SNV H806H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 139848 chrX 100808011 100808011 A G rs782244462 ARMCX1 Nonsynonymous SNV E33G 0.009 0.008 0 0 10 3 0 0 3 1 0 0 23.2 139849 chr10 16946018 16946018 A G CUBN Nonsynonymous SNV V2670A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 139850 chrX 102337262 102337262 T C rs781089713 NXF3 Nonsynonymous SNV K271E 0.009 0.008 0 0 10 3 0 0 3 1 0 0 10.98 139851 chr17 61759256 61759256 G T rs749850994 MAP3K3 Nonsynonymous SNV Q211H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 139852 chrX 23723114 23723114 G A rs981542197 ACOT9 Nonsynonymous SNV S299L 0.002 0 0 0 2 0 0 0 1 0 0 0 31 139853 chr17 62050039 62050039 G T rs754070476 SCN4A Synonymous SNV R55R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.11 139854 chr11 6340416 6340416 G A rs12294600 CAVIN3 Nonsynonymous SNV L255F 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 22.4 139855 chr10 17496164 17496164 C T rs140398395 ST8SIA6 Nonsynonymous SNV G31S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.01 139856 chrX 105167116 105167116 G C rs779292616 NRK Nonsynonymous SNV D873H 0 0.005 0 0 0 2 0 0 0 1 0 0 25.3 139857 chr17 64208257 64208257 T C rs775417167 APOH Synonymous SNV P344P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.706 139858 chrX 44088932 44088932 A T rs769825859 EFHC2 Nonsynonymous SNV S572T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 139859 chr11 64112444 64112444 C T rs541488916 CCDC88B Nonsynonymous SNV R811W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 139860 chrX 47041666 47041666 G C rs79693964 RBM10 Nonsynonymous SNV A554P 0.005 0 0 4 6 0 0.01 0 2 0 0 2 13.51 139861 chrX 47426757 47426757 C T rs56322617 ARAF Synonymous SNV A337A 0.009 0.003 0.007 4 11 1 0.01 2 3 0 0 1 Benign 14.11 139862 chr20 2187849 2187849 C A LOC388780 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 139863 chrX 48629496 48629496 A G rs182017964 GLOD5 Nonsynonymous SNV K119E 0.003 0.003 0 0 4 1 0 0 2 0 0 0 12.09 139864 chrX 53654710 53654710 T C HUWE1 Nonsynonymous SNV I455V 0.002 0 0 0 2 0 0 0 1 0 0 0 6.745 139865 chr10 13523050 13523050 G A rs367691032 BEND7 Synonymous SNV Y265Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.544 139866 chr10 95111492 95111492 T A rs12256834 MYOF Nonsynonymous SNV Y1185F 0.003 0.005 0.014 1 4 2 0.003 4 0 1 0 0 9.297 139867 chr10 16526554 16526554 A G rs34775265 PTER Synonymous SNV L57L 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 2.887 139868 chr10 95113617 95113617 A G rs12267946 MYOF Synonymous SNV Y1131Y 0.003 0.005 0.014 1 3 2 0.003 4 0 1 0 0 0.052 139869 chrX 69497327 69497327 G A rs764023653 ARR3 Nonsynonymous SNV R186H 0.002 0 0 0 2 0 0 0 1 0 0 0 16.02 139870 chr17 7077059 7077059 G A rs200507809 ASGR1 Synonymous SNV N226N 0 0 0.007 0 0 0 0 2 0 0 0 0 4.319 139871 chr17 7097008 7097008 G A rs377729880 DLG4 Synonymous SNV Y463Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.37 139872 chr1 62288689 62288689 A G rs142364570 PATJ Nonsynonymous SNV I586V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 139873 chr10 19412491 19412491 C A rs915898898 MALRD1 Stop gain C255X 0.004 0 0 2 5 0 0.005 0 0 0 0 0 16.57 139874 chr10 19613004 19613004 T C rs764899181 MALRD1 Synonymous SNV H1182H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 3.263 139875 chrX 99931103 99931103 C T rs143469082 SYTL4 Nonsynonymous SNV M646I 0.005 0 0.007 0 6 0 0 2 2 0 1 0 30 139876 chr20 5948540 5948540 T C rs35180674 MCM8 Synonymous SNV N364N 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Benign 1.965 139877 chr17 71819962 71819962 C T rs752060 LINC00469 0 0 0.044 0 0 0 0 13 0 0 1 0 7.297 139878 chr1 63113837 63113837 A G DOCK7 Synonymous SNV D224D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.476 139879 chr10 99130790 99130792 CCT - rs759713764 RRP12 E697del 0.003 0 0 0 3 0 0 0 0 0 0 0 139880 chr10 99140635 99140635 G A rs369673328 RRP12 Nonsynonymous SNV A385V 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 139881 chr10 97515523 97515523 G A rs192954755 ENTPD1 Nonsynonymous SNV E18K 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Uncertain significance 10.51 139882 chrX 107431882 107431882 G A COL4A6 Synonymous SNV D484D 0.002 0 0.007 0 2 0 0 2 1 0 1 0 7.781 139883 chr10 26463073 26463073 A G rs56261037 MYO3A Nonsynonymous SNV I1294V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.001 139884 chr10 97772351 97772351 G A rs1042349760 CC2D2B Nonsynonymous SNV M61I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.652 139885 chr17 72480171 72480171 C T rs372367932 CD300A Nonsynonymous SNV S120L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.8 139886 chr1 915743 915743 C T PERM1 Nonsynonymous SNV A223T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 139887 chr1 984957 984957 G A rs371477631 AGRN Nonsynonymous SNV R1509Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 22.6 139888 chr11 66102903 66102903 C T RIN1 Synonymous SNV L146L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.64 139889 chr1 1007406 1007406 G A rs182217004 RNF223 Nonsynonymous SNV R181W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 139890 chr1 1115461 1115461 C T rs116383664 TTLL10 Nonsynonymous SNV R10W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.64 139891 chr10 44141597 44141597 C T rs199726414 ZNF32-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 139892 chr17 73008804 73008804 G C rs3744206 MRPL58 Nonsynonymous SNV R8P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 139893 chr17 7306431 7306431 G A rs61736090 TMEM256 Nonsynonymous SNV A99V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21 139894 chr1 1249132 1249132 - A rs556125116 INTS11 Frameshift insertion A215Cfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 139895 chr1 1355796 1355796 C T rs145378993 ANKRD65 Nonsynonymous SNV R129H 0.006 0.003 0.007 5 7 1 0.013 2 2 0 0 0 22.1 139896 chr1 76345823 76345823 A G rs5745459 MSH4 Nonsynonymous SNV Y589C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.6 139897 chr17 73625030 73625030 G A rs199907830 RECQL5 Nonsynonymous SNV L825F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.413 139898 chr17 7367164 7367164 G A rs57185120 ZBTB4 Synonymous SNV N379N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.934 139899 chr1 84867614 84867614 A C DNASE2B Nonsynonymous SNV Q52H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.38 139900 chr1 2435521 2435521 T C rs376460092 PLCH2 Synonymous SNV N1040N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.277 139901 chr1 3334509 3334509 C A rs374972823 PRDM16 Nonsynonymous SNV P937T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.97 139902 chr1 2572985 2572985 C T rs572322681 TTC34 Nonsynonymous SNV R1021Q 0.006 0.01 0.01 1 7 4 0.003 3 0 1 0 0 10.53 139903 chr1 3329263 3329263 C T rs115226069 PRDM16 Synonymous SNV G834G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.948 139904 chr17 74394375 74394375 G A rs142431589 UBE2O Synonymous SNV I662I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.44 139905 chr10 45480314 45480314 G A rs377064821 RASSF4 Nonsynonymous SNV A143T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 139906 chr17 7484750 7484750 T C rs35452170 CD68 Nonsynonymous SNV I302T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.888 139907 chr11 70183527 70183527 C T rs199853206 PPFIA1 Synonymous SNV H495H 0.005 0.013 0 0 6 5 0 0 0 0 0 0 16.31 139908 chr11 72012990 72012990 A G CLPB Nonsynonymous SNV S367P 0.001 0.01 0 0 1 4 0 0 0 0 0 0 32 139909 chr10 61834156 61834156 G A rs3134609 ANK3 Synonymous SNV V2161V 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 3.418 139910 chr17 7680912 7680912 C T rs73977760 DNAH2 Nonsynonymous SNV S1736F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 139911 chr1 94487436 94487436 A G rs777415466 ABCA4 Nonsynonymous SNV L1580S 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 Likely pathogenic 12.96 139912 chr10 50532375 50532375 G A rs371550755 C10orf71 Synonymous SNV P595P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.533 139913 chr10 69926385 69926385 C T rs71535754 MYPN Synonymous SNV P645P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.51 139914 chr11 102822871 102822871 C T MMP13 Synonymous SNV E223E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.42 139915 chr1 101005425 101005425 G A rs201200849 GPR88 Synonymous SNV V301V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.59 139916 chr1 102269923 102269923 G A rs111710000 OLFM3 Synonymous SNV N436N 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 3.848 139917 chr11 103107198 103107198 A G rs140830294 DYNC2H1 Nonsynonymous SNV Q3250R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 139918 chr11 1093549 1093549 G C rs79238439 MUC2 Nonsynonymous SNV V1790L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.316 139919 chr20 44141399 44141399 G C rs367695635 SPINT3 Nonsynonymous SNV F54L 0.009 0 0 1 11 0 0.003 0 0 0 0 0 23.2 139920 chr11 104905100 104905100 T G rs17103567 CASP1 Nonsynonymous SNV K37Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.409 139921 chr10 61552763 61552763 G A rs61740504 CCDC6 Nonsynonymous SNV P446L 0.004 0.003 0.017 1 5 1 0.003 5 0 0 0 0 24.6 139922 chr11 107535786 107535786 G A rs754473144 ELMOD1 Nonsynonymous SNV E282K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 139923 chr11 82444554 82444554 G A FAM181B Nonsynonymous SNV A73V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 139924 chr11 1093088 1093088 C G rs11245948 MUC2 Nonsynonymous SNV T1636S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.646 139925 chr17 80043178 80043178 G A FASN Nonsynonymous SNV P1408L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.52 139926 chr10 75552545 75552545 G A rs368013099 ZSWIM8 Nonsynonymous SNV G750R 0.002 0 0 5 2 0 0.013 0 0 0 0 0 23.5 139927 chr1 16064676 16064676 T C rs147772069 SLC25A34 Nonsynonymous SNV M178T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 139928 chr10 118633591 118633591 A G rs772393020 ENO4 Nonsynonymous SNV K407R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 14.92 139929 chr11 117387430 117387430 C T rs370308260 DSCAML1 Nonsynonymous SNV R512Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 139930 chr11 117691599 117691599 G A rs200063683 FXYD2, FXYD6-FXYD2 Nonsynonymous SNV R51C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 139931 chr11 113629371 113629371 G A rs142759842 ZW10 Nonsynonymous SNV S213L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.26 139932 chr11 113650712 113650712 G A rs375224880 CLDN25 Synonymous SNV K65K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.47 139933 chr10 79581272 79581272 G A rs750180392 DLG5 Synonymous SNV Y990Y 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.161 139934 chr1 113264968 113264968 C T rs116534797 TAFA3 Nonsynonymous SNV T38I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.1 139935 chr1 113266753 113266753 C G rs115919201 TAFA3 Nonsynonymous SNV P151R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.4 139936 chr11 118403072 118403072 C T rs201041295 TMEM25 Nonsynonymous SNV T93I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 27.2 139937 chr1 21052478 21052478 G A SH2D5 Stop gain R25X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 139938 chr11 94862128 94862128 A G rs368820210 ENDOD1 Synonymous SNV V296V 0.004 0 0.003 2 5 0 0.005 1 1 0 0 0 0.417 139939 chr10 125528173 125528173 - CAGCAGCTCCCGGCC rs752230154 CPXM2 L389_L390insGRELL 0.002 0 0 3 2 0 0.008 0 0 0 0 0 139940 chr11 118106211 118106211 C T rs756457527 MPZL3 Nonsynonymous SNV G170E 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 26.7 139941 chr10 89264723 89264723 G A rs201565861 MINPP1 Synonymous SNV A17A 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 14.99 139942 chr10 126205788 126205788 G A rs372122309 LHPP Nonsynonymous SNV G222S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 139943 chr11 118403090 118403090 A G rs781965949 TMEM25 Nonsynonymous SNV H99R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.027 139944 chr18 19070237 19070237 G A GREB1L Synonymous SNV Q985Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.869 139945 chr10 7774317 7774317 T C rs41290291 ITIH2 Nonsynonymous SNV V555A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.591 139946 chr10 7841089 7841089 A G rs892575820 ATP5F1C Synonymous SNV T73T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 139947 chr18 21501534 21501534 T C rs144798744 LAMA3 Nonsynonymous SNV I1056T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 139948 chr11 119057325 119057325 C T rs779240027 PDZD3 Nonsynonymous SNV R86C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.6 139949 chr1 24657999 24657999 C T rs149583743 GRHL3 Nonsynonymous SNV T39M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 139950 chr10 95557470 95557470 G A LGI1 Synonymous SNV V480V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.279 139951 chr10 88702863 88702863 C T MMRN2 Nonsynonymous SNV A560T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.013 139952 chr18 29426714 29426714 T C rs146392001 TRAPPC8 Nonsynonymous SNV I1268V 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 2.727 139953 chr18 29437668 29437668 G A rs150390631 TRAPPC8 Nonsynonymous SNV T1008I 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 10.62 139954 chr10 97370021 97370021 G A rs147842812 ALDH18A1 Synonymous SNV H501H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.924 139955 chr1 23762428 23762428 A C rs144216953 ASAP3 Nonsynonymous SNV I546M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 139956 chr18 31323497 31323497 A G rs769033169 ASXL3 Nonsynonymous SNV M1229V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.406 139957 chr12 108169252 108169252 G T ASCL4 Nonsynonymous SNV R87L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 139958 chr10 94223726 94223726 A G rs61736443 IDE Synonymous SNV N286N 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 2.355 139959 chr10 94246961 94246961 G C IDE Nonsynonymous SNV L511V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 139960 chr1 27088692 27088692 C T rs752632272 ARID1A Synonymous SNV P767P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.52 139961 chr1 27105789 27105789 T C rs544579117 ARID1A Synonymous SNV N1800N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.763 139962 chr1 27589699 27589699 G A rs145178289 WDTC1 Synonymous SNV R35R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.59 139963 chr11 124972120 124972120 G A rs148295283 TMEM218 Synonymous SNV L6L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 9.073 139964 chr18 43204713 43204713 G A rs117646722 SLC14A2 Synonymous SNV P28P 0.003 0.003 0.003 7 3 1 0.018 1 0 0 0 0 7.724 139965 chr10 96281759 96281759 A G rs781357234 TBC1D12 Synonymous SNV E603E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.735 139966 chr1 29365895 29365895 C T rs779972883 EPB41 Synonymous SNV F496F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 139967 chr1 26314745 26314745 G A rs566712888 PAFAH2 Synonymous SNV F106F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 139968 chr10 14951220 14951220 T A DCLRE1C Synonymous SNV S307S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 139969 chr10 98146804 98146804 G A rs17111767 TLL2 Synonymous SNV G586G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.19 139970 chr11 124763906 124763906 C T rs758299685 ROBO4 Nonsynonymous SNV E307K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.941 139971 chr1 33241662 33241662 C T rs778099655 YARS1 Nonsynonymous SNV A503T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 139972 chr1 154705602 154705602 G A rs576034957 KCNN3 Synonymous SNV D176D 0.003 0 0 0 3 0 0 0 0 0 0 0 13.23 139973 chr1 33790511 33790511 G A rs139234924 PHC2 Synonymous SNV P309P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.198 139974 chr12 113386742 113386742 G T rs201999183 OAS3 Nonsynonymous SNV S369I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.092 139975 chr10 25312586 25312586 T C rs770856253 THNSL1 Nonsynonymous SNV L145P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 139976 chr1 36383277 36383277 G A rs138262926 AGO1 Synonymous SNV V629V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.22 139977 chr1 38033308 38033308 G A rs146011668 GNL2 Nonsynonymous SNV S487L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.4 139978 chr12 113557048 113557048 C T rs369348565 RASAL1 Nonsynonymous SNV R176H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 139979 chr1 32279942 32279942 C T rs143063120 SPOCD1 Synonymous SNV G331G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.282 139980 chr1 40705892 40705892 C G rs755620482 RLF Nonsynonymous SNV L1840V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 139981 chr11 129999970 129999970 G A rs140505383 APLP2 Nonsynonymous SNV R269H 0 0.005 0 0 0 2 0 0 0 0 0 0 35 139982 chr10 29822028 29822028 C T rs372159434 SVIL Nonsynonymous SNV C423Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 139983 chr1 41978498 41978498 C T rs140353634 HIVEP3 Nonsynonymous SNV A2132T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.969 139984 chr18 658050 658050 A G rs760695865 TYMSOS Synonymous SNV V66V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.218 139985 chr1 158153804 158153804 C T rs140353863 CD1D Nonsynonymous SNV T229I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 139986 chr18 67816151 67816151 T C RTTN Synonymous SNV L765L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.544 139987 chr1 43697746 43697746 A G rs771998324 CFAP57 Nonsynonymous SNV I1007V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.984 139988 chr1 44019305 44019305 C T rs6684279 PTPRF Synonymous SNV F78F 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 14.09 139989 chr1 44474087 44474087 G A rs139332952 SLC6A9 Synonymous SNV S111S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 7.134 139990 chr1 44605634 44605675 CCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT - KLF18 M546_Q559del 0 0 0 1 0 0 0.003 0 0 0 0 0 139991 chr1 44605836 44605836 - CTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAGGTCGTCAC KLF18 Q489_M490insVTTSTGNQALYGGQ 0 0 0 1 0 0 0.003 0 0 0 0 0 139992 chr18 74672689 74672689 C T rs758845175 ZNF236 Nonsynonymous SNV A1766V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 139993 chr1 41482917 41482917 A G rs147062455 SLFNL1 Nonsynonymous SNV W364R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 27.4 139994 chr12 123338702 123338702 G A rs756487340 HIP1R Synonymous SNV T230T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 139995 chr11 110135550 110135550 T C rs201338088 RDX Nonsynonymous SNV Y49C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 139996 chr11 2005712 2005712 G A rs141735794 MRPL23-AS1 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.131 139997 chr11 112072789 112072789 A G rs143616587 BCO2 Nonsynonymous SNV H284R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26.2 139998 chr11 102711164 102711164 G C MMP3 Synonymous SNV L262L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.039 139999 chr1 52499089 52499089 C T KTI12 Synonymous SNV A115A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 140000 chr10 48389138 48389138 C T rs140857967 RBP3 Synonymous SNV P580P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.857 140001 chr1 53287176 53287176 C T rs758165095 ZYG11B Nonsynonymous SNV H704Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 140002 chr10 49658360 49658360 A T rs146281014 ARHGAP22 Synonymous SNV T514T 0.006 0 0 3 7 0 0.008 0 1 0 0 0 0.002 140003 chr10 49658432 49658432 G A rs367626104 ARHGAP22 Synonymous SNV S490S 0.006 0 0 3 7 0 0.008 0 1 0 0 0 5.623 140004 chr1 45292590 45292590 C T rs113617379 PTCH2 Synonymous SNV T893T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.95 140005 chr11 20699576 20699576 C T rs143880987 NELL1 Nonsynonymous SNV H52Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 140006 chr11 22397565 22397565 C T rs148307214 SLC17A6 Synonymous SNV G404G 0.003 0.008 0.017 0 4 3 0 5 0 0 0 0 Benign 13.77 140007 chr11 107381630 107381630 G T rs183627082 ALKBH8 Nonsynonymous SNV H477N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 28 140008 chr19 10444074 10444074 G A rs34642407 RAVER1 Nonsynonymous SNV P37L 0.002 0.005 0.007 1 2 2 0.003 2 0 1 0 0 20.9 140009 chr11 108159732 108159732 C T rs3092856 ATM Nonsynonymous SNV H1380Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 6.964 140010 chr11 108165730 108165730 G A rs765759912 ATM Nonsynonymous SNV R1618Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 140011 chr1 47278174 47278174 G A rs148753850 CYP4B1 Nonsynonymous SNV G110D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 140012 chr11 3122912 3122912 G A rs78184020 OSBPL5 Synonymous SNV P413P 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign 11.72 140013 chr11 108383560 108383560 T A rs10890850 EXPH5 Nonsynonymous SNV N704Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23 140014 chr12 2058319 2058319 G A rs138120926 DCP1B Nonsynonymous SNV P569L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 140015 chr11 33049335 33049335 A G rs770361389 DEPDC7 Nonsynonymous SNV I190V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 140016 chr19 1456383 1456383 C A rs146579468 APC2 Nonsynonymous SNV P265T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 16.29 140017 chr11 114453723 114453723 T C rs568501282 NXPE4 Synonymous SNV L39L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.349 140018 chr19 1482035 1482035 G A rs559145373 PCSK4 Nonsynonymous SNV P664L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.265 140019 chr1 62672381 62672381 A T rs7552335 L1TD1 Nonsynonymous SNV R27S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.9 140020 chr11 46401108 46401108 C G rs76583617 DGKZ Nonsynonymous SNV T865R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 26.7 140021 chr12 2910367 2910367 C T rs767616167 FKBP4 Nonsynonymous SNV R373W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 140022 chr1 84662335 84662335 G A rs150449556 PRKACB Synonymous SNV V139V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.31 140023 chr1 62905567 62905567 A G USP1 Nonsynonymous SNV N10S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.909 140024 chr19 15233714 15233714 G A rs201324074 ILVBL Nonsynonymous SNV S198L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 140025 chr19 15367042 15367042 G C rs201111758 BRD4 Synonymous SNV L528L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.324 140026 chr19 15512319 15512319 A C AKAP8L Nonsynonymous SNV M92R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 140027 chr1 67577276 67577276 A C rs41286734 C1orf141 Nonsynonymous SNV L133R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 140028 chr1 74935992 74935992 A G rs1054520394 LRRC53 Nonsynonymous SNV L1105S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 140029 chr10 73579614 73579614 G A rs201129306 PSAP Nonsynonymous SNV P352L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.1 140030 chr11 47355160 47355160 C T rs762154672 MYBPC3 Synonymous SNV T1046T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 14.95 140031 chr11 47460416 47460416 G A rs778622975 RAPSN Synonymous SNV L286L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 11.33 140032 chr11 126306863 126306863 C T rs138978113 KIRREL3 Synonymous SNV S465S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.09 140033 chr10 7771998 7771998 T G rs755970338 ITIH2 Nonsynonymous SNV F455V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 140034 chr11 134047319 134047319 T C rs143359995 NCAPD3 Nonsynonymous SNV K801R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 26.4 140035 chr12 49426801 49426801 G C KMT2D Nonsynonymous SNV S3896C 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 140036 chr1 100856380 100856380 A C rs28361212 CDC14A Synonymous SNV A103A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.017 140037 chr1 100928421 100928421 C T rs74667145 CDC14A Synonymous SNV I274I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 19.42 140038 chr1 100928424 100928424 C T rs7543221 CDC14A Synonymous SNV A275A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 19.28 140039 chr1 100933576 100933576 T C rs17122597 CDC14A Synonymous SNV H8H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 0.006 140040 chr1 100949922 100949922 G A rs531836891 CDC14A Nonsynonymous SNV S58N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.08 140041 chr1 100964710 100964710 C T rs35385659 CDC14A Synonymous SNV S256S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 10.55 140042 chr1 94047878 94047878 C T rs575587868 BCAR3 Nonsynonymous SNV V232I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.72 140043 chr12 51847440 51847440 A G rs373424827 SLC4A8 Synonymous SNV T177T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.891 140044 chr12 52082584 52082584 A G rs773009820 SCN8A Synonymous SNV L219L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 3.718 140045 chr10 94834685 94834685 C A rs372113028 CYP26A1 Synonymous SNV I188I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.79 140046 chr19 20307801 20307801 T C rs201066903 ZNF486 Synonymous SNV L94L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.007 140047 chr1 110883046 110883046 G A RBM15 Nonsynonymous SNV R340H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 140048 chr11 128628102 128628102 G A rs201047249 FLI1 Synonymous SNV S37S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 14.27 140049 chr11 198547 198547 C T rs201592902 ODF3 Nonsynonymous SNV R166C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 140050 chr19 2216399 2216399 C T rs779548078 DOT1L Synonymous SNV R681R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.36 140051 chr11 5221085 5221085 G A rs766008367 OR51V1 Synonymous SNV H282H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.392 140052 chr19 22271741 22271741 G A rs184934654 ZNF257 Nonsynonymous SNV E321K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12.37 140053 chr11 5322305 5322305 A G OR51B4 Nonsynonymous SNV I291T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 140054 chr11 133802082 133802082 G C rs1011942837 IGSF9B Nonsynonymous SNV P332A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 140055 chr11 5364551 5364551 G C rs546965603 OR51B5 Nonsynonymous SNV D68E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 140056 chr11 5364552 5364552 T C rs763376441 OR51B5 Nonsynonymous SNV D68G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 140057 chr11 5364558 5364558 - T rs772270486 OR51B5 Frameshift insertion A66Dfs*54 0 0.003 0 0 0 1 0 0 0 0 0 0 140058 chr11 5364560 5364560 - GG OR51B5 Frameshift insertion A66Lfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 140059 chr1 114340643 114340643 T C RSBN1 Nonsynonymous SNV N240S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 140060 chr1 109743497 109743497 G A KIAA1324 Nonsynonymous SNV G645E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 140061 chr22 43579055 43579055 G A rs150601768 TTLL12 Nonsynonymous SNV P93L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 140062 chr11 1605957 1605957 - CTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT KRTAP5-1 K174_G175insRGCGSCGGCKGGCGSCGGSK 0.001 0 0 0 1 0 0 0 0 0 0 0 140063 chr19 30165136 30165136 G T rs369965916 PLEKHF1 Synonymous SNV V130V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.555 140064 chr11 17580653 17580653 G A rs61731248 OTOG Synonymous SNV A398A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 15.35 140065 chr1 120302555 120302555 C - HMGCS2 R206Lfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 140066 chr1 120302556 120302556 G T HMGCS2 Nonsynonymous SNV R206S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 140067 chr11 28311904 28311904 C T rs536139864 METTL15 Nonsynonymous SNV R187W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 140068 chr19 35450340 35450340 C T rs145968802 ZNF792 Nonsynonymous SNV R140H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 140069 chr1 113255522 113255522 A C rs200382414 PPM1J Synonymous SNV P191P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.863 140070 chr11 31816312 31816312 C G rs541894561 PAX6 Nonsynonymous SNV G47A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.168 140071 chr11 19955548 19955548 G A rs370493410 NAV2 Synonymous SNV G522G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.548 140072 chr1 150921720 150921720 G A SETDB1 Nonsynonymous SNV A464T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.978 140073 chr19 36212302 36212302 G A rs779172651 KMT2B Nonsynonymous SNV D685N 0 0 0.007 0 0 0 0 2 0 0 0 0 26 140074 chr19 36214009 36214009 G C rs182457846 KMT2B Synonymous SNV L945L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 10.71 140075 chr1 118727720 118727720 A C rs139383446 SPAG17 Nonsynonymous SNV S21A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.6 140076 chr1 151337064 151337064 C T SELENBP1 Synonymous SNV E396E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 140077 chr12 57626347 57626347 C T rs143192247 SHMT2 Nonsynonymous SNV R226C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 140078 chr11 2416749 2416749 C G CD81 Nonsynonymous SNV T82R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 140079 chr1 152082761 152082761 G A rs144030050 TCHH Nonsynonymous SNV P978S 0 0 0 3 0 0 0.008 0 0 0 0 0 9.425 140080 chr12 58125375 58125375 C T rs140471383 AGAP2 Synonymous SNV E668E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.596 140081 chr1 152287232 152287232 A G rs369354507 FLG-AS1 0.002 0 0 4 2 0 0.01 0 0 0 0 0 5.515 140082 chr1 152329913 152329913 - T FLG2 Frameshift insertion E117Rfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 140083 chr1 153516337 153516337 G A rs111468775 S100A4 Synonymous SNV N68N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.61 140084 chr19 38591817 38591817 G A rs147083222 SIPA1L3 Synonymous SNV K660K 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 12.08 140085 chr1 154580476 154580476 G C ADAR Nonsynonymous SNV P3A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 140086 chr19 38886365 38886365 C A rs533779860 SPRED3 Synonymous SNV P271P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 140087 chr19 39055862 39055862 G A RYR1 Synonymous SNV R4291R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.069 140088 chr11 57100114 57100114 G A rs148006209 SSRP1 Synonymous SNV R251R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 5.823 140089 chr19 40424352 40424352 G A rs138373311 FCGBP Synonymous SNV D617D 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 1.872 140090 chr19 40521256 40521256 C T rs143797522 ZNF546 Synonymous SNV Y667Y 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 5.644 140091 chr1 156617372 156617372 C G rs142437551 BCAN Nonsynonymous SNV A180G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.46 140092 chr1 156640581 156640581 C G rs17393797 NES Nonsynonymous SNV R1133S 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 11.26 140093 chr11 113265667 113265667 T G rs141919233 ANKK1 Nonsynonymous SNV L166R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 140094 chr11 4608819 4608819 C T OR52I2 Synonymous SNV S259S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.04 140095 chr1 158517859 158517859 C T rs138403874 OR6Y1 Nonsynonymous SNV V13M 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 5.022 140096 chr11 116661065 116661065 G T APOA5 Nonsynonymous SNV L294M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.9 140097 chr1 156146689 156146689 G A rs41265019 SEMA4A Synonymous SNV P597P 0.024 0.018 0.014 9 28 7 0.023 4 0 1 0 2 Uncertain significance 2.66 140098 chr12 83289710 83289710 G A rs371809861 TMTC2 Synonymous SNV S11S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.911 140099 chr19 44085423 44085423 G C PINLYP Nonsynonymous SNV G83R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.856 140100 chr12 88481601 88481601 G A rs794727563 CEP290 Nonsynonymous SNV R1384C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 140101 chr19 44223976 44223976 C T rs775895444 IRGC Synonymous SNV G422G 0 0 0.007 0 0 0 0 2 0 0 0 0 7.555 140102 chr1 156563805 156563805 G A rs143449130 NAXE Nonsynonymous SNV A266T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 140103 chr1 160109701 160109701 C T rs74123254 ATP1A2 Synonymous SNV C987C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.27 140104 chr1 160160568 160160568 C A rs76394704 CASQ1 Synonymous SNV P9P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.46 140105 chr1 160254885 160254885 G C rs144440223 PEX19 Synonymous SNV V10V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.185 140106 chr11 4869604 4869604 T C rs781593010 OR51S1 Nonsynonymous SNV T279A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 140107 chr11 4869640 4869640 G C rs866748832 OR51S1 Nonsynonymous SNV L267V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 140108 chr11 4870145 4870145 G C rs868370202 OR51S1 Nonsynonymous SNV H98Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 140109 chr12 94563020 94563020 T C rs750212729 PLXNC1 Nonsynonymous SNV M385T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.91 140110 chr11 120350840 120350840 T C rs371409714 ARHGEF12 Nonsynonymous SNV M1294T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.709 140111 chr1 157666027 157666027 G T rs115903952 FCRL3 Nonsynonymous SNV A312D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.5 140112 chr11 60899932 60899932 G A rs117231827 VPS37C Nonsynonymous SNV S143F 0.005 0.003 0.007 8 6 1 0.021 2 0 0 0 0 26.7 140113 chr11 59225062 59225062 G T rs202119522 OR4D6 Nonsynonymous SNV W210L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.058 140114 chr12 96674555 96674555 C T rs201367937 CDK17 Nonsynonymous SNV R522Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.34 140115 chr1 161970099 161970099 G A rs373271384 OLFML2B Synonymous SNV T252T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.92 140116 chr1 162381700 162381700 A G rs35688243 SH2D1B Nonsynonymous SNV I36T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.7 140117 chr11 61309911 61309911 C T rs146563315 SYT7 Nonsynonymous SNV R92Q 0.005 0.003 0.003 5 6 1 0.013 1 0 0 0 0 16.8 140118 chr1 162560114 162560114 A C rs61743675 UAP1 Nonsynonymous SNV K391Q 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Benign 21.8 140119 chr1 249142016 249142016 C T rs775309044 ZNF672 Synonymous SNV H181H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 140120 chr11 61897387 61897387 G A INCENP Nonsynonymous SNV A130T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.7 140121 chr1 1247626 1247626 G A rs201688337 INTS11 Synonymous SNV R431R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.176 140122 chr1 173517540 173517540 G A rs6425247 SLC9C2 Synonymous SNV I483I 0.002 0.003 0.02 4 2 1 0.01 6 0 0 0 0 9.402 140123 chr1 173517547 173517547 G A rs7551131 SLC9C2 Nonsynonymous SNV T481M 0.001 0.003 0.014 4 1 1 0.01 4 0 0 0 0 23 140124 chr19 47920157 47920157 G A rs759014398 MEIS3 Synonymous SNV P83P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.624 140125 chr1 173912685 173912685 T C rs139901525 RC3H1 Synonymous SNV P1010P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.918 140126 chr1 175096158 175096158 G A rs59588723 TNN Synonymous SNV T994T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.78 140127 chr19 48525555 48525555 G A rs6509358 ELSPBP1 Nonsynonymous SNV D215N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 140128 chr19 48558159 48558159 G A rs2307280 PLA2G4C Synonymous SNV L479L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.69 140129 chr1 177909759 177909759 G C CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R364G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 140130 chr1 177934290 177934290 C A CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R142L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 140131 chr11 63176294 63176294 T G rs149660130 SLC22A9 Nonsynonymous SNV L515R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 140132 chr13 114535418 114535418 T C rs140003424 GAS6 Nonsynonymous SNV I333V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 140133 chr2 16747005 16747005 A G FAM49A Nonsynonymous SNV I34T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 140134 chr11 63670598 63670598 C T rs55877937 MARK2 Synonymous SNV L494L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.77 140135 chr19 49121108 49121108 G T rs143728553 RPL18 Nonsynonymous SNV D10E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 140136 chr1 169578892 169578892 C T rs746507918 SELP Nonsynonymous SNV G395R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 140137 chr1 180241139 180241139 G A rs375216188 LHX4 Nonsynonymous SNV R259Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Likely benign 23.2 140138 chr1 3329293 3329293 G A rs755046777 PRDM16 Synonymous SNV P844P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.036 140139 chr11 64522240 64522240 G A rs139726186 PYGM Synonymous SNV I220I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.78 140140 chr19 49686146 49686146 G A rs71352737 TRPM4 Stop gain W171X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 140141 chr13 25745645 25745645 G A rs200277642 AMER2 Nonsynonymous SNV T38I 0.004 0.003 0 7 5 1 0.018 0 0 0 0 0 23.1 140142 chr11 1605904 1605904 T G rs113408385 KRTAP5-1 Synonymous SNV G192G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 140143 chr19 50549633 50549633 C G rs146086803 ZNF473 Nonsynonymous SNV P633A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.06 140144 chr11 65305440 65305440 C T rs752433107 SCYL1 Synonymous SNV V661V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.679 140145 chr1 200819005 200819005 A C CAMSAP2 Nonsynonymous SNV K1020N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.052 140146 chr2 27456266 27456266 G A rs200398980 CAD Synonymous SNV A963A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.55 140147 chr13 32768428 32768428 G A rs41292163 FRY Nonsynonymous SNV G1247E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 22.7 140148 chr13 39266155 39266155 C T rs769015024 FREM2 Synonymous SNV V1558V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.819 140149 chr13 39433541 39433541 G A rs760298831 FREM2 Nonsynonymous SNV G2445S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 140150 chr11 66332390 66332390 T C rs148080813 CTSF Nonsynonymous SNV N378S 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 Uncertain significance 23.5 140151 chr1 184765051 184765051 T C NIBAN1 Nonsynonymous SNV N616S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 140152 chr1 201915330 201915330 C A rs200871425 LMOD1 Nonsynonymous SNV V47L 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 Benign 23.6 140153 chr1 186276941 186276941 C T rs867835703 PRG4 Nonsynonymous SNV A563V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.102 140154 chr1 11900251 11900251 C T rs376481714 CLCN6 Nonsynonymous SNV R839W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 140155 chr1 186277540 186277540 G A PRG4 Nonsynonymous SNV G763S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.173 140156 chr1 12393329 12393329 A G rs150154094 VPS13D Synonymous SNV Q2778Q 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 6.651 140157 chr11 22399259 22399259 C G rs143861002 SLC17A6 Nonsynonymous SNV S574R 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 8.716 140158 chr1 203468826 203468826 T C OPTC Synonymous SNV D193D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 140159 chr19 52942210 52942210 T C rs62110197 ZNF534 Synonymous SNV C471C 0.005 0.005 0.003 8 6 2 0.021 1 0 0 0 0 0.345 140160 chr2 39456516 39456516 C T rs35454041 CDKL4 Nonsynonymous SNV R53H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.4 140161 chr13 46918939 46918939 C G rs199831554 RUBCNL Nonsynonymous SNV E390Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 29.6 140162 chr11 2905916 2905916 G A rs747104008 CDKN1C Synonymous SNV S268S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 14.49 140163 chr19 54577392 54577392 G A rs749593140 TARM1 Synonymous SNV C146C 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 0.646 140164 chr13 73369654 73369654 G A rs752690503 PIBF1 Nonsynonymous SNV A171T 0.003 0 0 0 3 0 0 0 0 0 0 0 3.401 140165 chr1 203186067 203186067 G A rs141079733 CHIT1 Nonsynonymous SNV P432S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 140166 chr13 78492673 78492673 C T rs767140036 EDNRB Synonymous SNV L12L 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 19.5 140167 chr11 3660256 3660256 C A rs148523079 ART5 Nonsynonymous SNV R198M 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 23.5 140168 chr2 70314938 70314938 C T rs368421777 PCBP1 Synonymous SNV H21H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.48 140169 chr19 56133592 56133592 G A rs753198452 ZNF784 Nonsynonymous SNV A166V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 3.447 140170 chr19 56153890 56153890 C T rs138742547 ZNF580 Nonsynonymous SNV P6S 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 17.43 140171 chr19 56162818 56162818 T A rs776531323 CCDC106 Nonsynonymous SNV S126R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.005 140172 chr11 6048106 6048106 - G rs764487171 OR56A1 Frameshift insertion M277Hfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 140173 chr11 45246422 45246422 C T rs200495220 PRDM11 Nonsynonymous SNV S466L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.012 140174 chr14 105359460 105359460 T C rs181974042 CEP170B Synonymous SNV S1307S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.281 140175 chr19 57088225 57088225 A G rs144650274 ZNF470 Nonsynonymous SNV D143G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 140176 chr11 92623798 92623798 G A rs142403035 FAT3 Nonsynonymous SNV G4398D 0.004 0 0 4 5 0 0.01 0 0 0 0 0 24.1 140177 chr1 27427110 27427110 C T rs148527788 SLC9A1 Synonymous SNV E712E 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 12.11 140178 chr1 225586807 225586807 G A rs115414058 DNAH14 Nonsynonymous SNV A4564T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.064 140179 chr11 6423947 6423947 G A rs148143455 APBB1 Synonymous SNV A151A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.77 140180 chr1 222838942 222838942 C T rs777522720 MIA3 Nonsynonymous SNV A780V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 140181 chr11 6452953 6452953 G A rs73398890 HPX Synonymous SNV V349V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.365 140182 chr19 58059302 58059302 G A rs768118600 ZNF550 Nonsynonymous SNV R104W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 140183 chr1 224318233 224318233 G T FBXO28 Synonymous SNV V109V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 140184 chr14 20857901 20857901 T C rs752819904 TEP1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 140185 chr2 98373635 98373635 C T rs199651021 TMEM131 Nonsynonymous SNV R1860Q 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 23.1 140186 chr14 21058871 21058871 C T rs756503725 RNASE12 Nonsynonymous SNV M4I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 140187 chr11 6503449 6503449 T G rs74055809 TIMM10B X104E 0.002 0 0 0 2 0 0 0 0 0 0 0 17.85 140188 chr14 21464336 21464336 T C rs61512666 LOC101929718 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 7.857 140189 chr12 101761715 101761715 G A rs113954350 UTP20 Synonymous SNV V2115V 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 Benign 12.86 140190 chr11 63532642 63532642 G T rs895186510 C11orf95 Nonsynonymous SNV A241D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.78 140191 chr14 21552000 21552000 A G rs751823812 ARHGEF40 Nonsynonymous SNV M480V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 140192 chr1 38095286 38095286 G A rs751169674 RSPO1 Synonymous SNV H16H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.115 140193 chr12 104379508 104379508 - GG rs749286024 TDG 0.003 0.016 0 0 4 6 0 0 0 0 0 0 140194 chr19 6227001 6227001 G T rs372141702 MLLT1 Nonsynonymous SNV S178Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 140195 chr11 6566249 6566249 C G rs149570530 DNHD1 Nonsynonymous SNV F1360L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 28.2 140196 chr1 228467546 228467546 C T rs768164164 OBSCN Nonsynonymous SNV P2474L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 140197 chr11 64567677 64567677 C T rs374434121 MAP4K2 Synonymous SNV T273T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.76 140198 chr1 228550344 228550344 G A rs200257210 OBSCN Synonymous SNV A6243A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.834 140199 chr1 235420493 235420493 G A rs61740940 ARID4B Synonymous SNV H55H 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 3.755 140200 chr1 228560355 228560355 C A OBSCN Synonymous SNV A7292A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 140201 chr19 7529490 7529490 C A rs750656837 ARHGEF18 Synonymous SNV R698R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.21 140202 chr11 6647461 6647461 A T rs56920123 DCHS1 Nonsynonymous SNV L2172Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 10.12 140203 chr1 42047512 42047512 C T rs753862941 HIVEP3 Nonsynonymous SNV R986Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.8 140204 chr12 106712236 106712236 C G TCP11L2 Nonsynonymous SNV I136M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25 140205 chr1 43212896 43212896 G A rs766380362 P3H1 Nonsynonymous SNV P701L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.65 140206 chr1 236758858 236758858 T C rs367953651 HEATR1 Nonsynonymous SNV I358V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 140207 chr19 7982654 7982654 G A TGFBR3L Nonsynonymous SNV E265K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 140208 chr19 804040 804040 C T rs137874112 PTBP1 Synonymous SNV N40N 0 0 0.007 0 0 0 0 2 0 0 0 0 11.25 140209 chr19 8326894 8326894 A G rs199893919 CERS4 Synonymous SNV L362L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.316 140210 chr12 110032871 110032871 C T rs72648042 MVK Synonymous SNV L256L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.09 140211 chr19 8455419 8455419 C A rs955952045 RAB11B-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.72 140212 chr11 6578100 6578100 G A rs371880816 DNHD1 Synonymous SNV L2525L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 0.308 140213 chr14 35331252 35331252 T C rs142708800 BAZ1A Synonymous SNV A130A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 140214 chr12 113402179 113402179 G A rs769603563 OAS3 Nonsynonymous SNV R790Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.85 140215 chr1 49224937 49224937 G T rs748438575 BEND5 Nonsynonymous SNV P127Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.6 140216 chr1 245022046 245022046 C T rs147232928 HNRNPU Synonymous SNV V386V 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Benign/Likely benign 15.57 140217 chr11 71804618 71804618 C T rs775331138 LRTOMT Synonymous SNV S35S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.78 140218 chr1 247275505 247275505 G A rs372879856 C1orf229 Nonsynonymous SNV P8S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 140219 chr11 6652545 6652545 T C rs143368111 DCHS1 Nonsynonymous SNV T1257A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.33 140220 chr12 120795667 120795667 G A rs369081113 MSI1 Synonymous SNV I162I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.75 140221 chr19 9045689 9045689 G C MUC16 Nonsynonymous SNV T11981R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 140222 chr19 9046175 9046175 G A MUC16 Nonsynonymous SNV T11819I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.253 140223 chr12 121437110 121437110 A G rs202039659 HNF1A Nonsynonymous SNV H514R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 22.5 140224 chr19 9056234 9056234 G A rs61732462 MUC16 Synonymous SNV S10404S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.935 140225 chr19 9065551 9065551 T C rs181567660 MUC16 Nonsynonymous SNV M7299V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 140226 chr11 7723825 7723825 C A rs968981246 OVCH2 Nonsynonymous SNV Q114H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 140227 chr12 125396346 125396346 G A UBC Synonymous SNV L658L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.154 140228 chr2 253011 253011 T G rs899411848 SH3YL1 Nonsynonymous SNV I36L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 140229 chr14 64954640 64954640 G A rs563449304 ZBTB25 Synonymous SNV H103H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.905 140230 chr2 10822149 10822149 A T rs772686281 NOL10 Synonymous SNV T53T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.146 140231 chr1 100340356 100340356 A G rs923537550 AGL Nonsynonymous SNV I358V 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 5.989 140232 chr2 1652459 1652459 G A rs6752525 PXDN Synonymous SNV Y1031Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 1.689 140233 chr2 1652891 1652891 G A rs1863134 PXDN Synonymous SNV S887S 0.005 0.013 0 5 6 5 0.013 0 0 0 0 0 Benign 11.23 140234 chr2 11758920 11758920 G A GREB1 Nonsynonymous SNV E1307K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 140235 chr2 3595593 3595593 T C rs143510329 RNASEH1 Synonymous SNV A208A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign/Likely benign 2.301 140236 chr2 3598055 3598055 G A rs139176330 RNASEH1 Synonymous SNV F113F 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 6.906 140237 chr12 13102852 13102852 A T rs61734234 GPRC5D Nonsynonymous SNV M156K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.002 140238 chr11 74800417 74800417 A C rs145245435 OR2AT4 Nonsynonymous SNV C114W 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.2 140239 chr11 75141198 75141198 G C rs538306841 KLHL35 Synonymous SNV R159R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.179 140240 chr11 76164361 76164361 C T EMSY Synonymous SNV I58I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.14 140241 chr1 79002304 79002304 A G rs140723645 PTGFR Nonsynonymous SNV I338V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 16.5 140242 chr11 57069694 57069694 G A rs765583223 TNKS1BP1 Nonsynonymous SNV T1563I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 140243 chr11 57076389 57076389 C T rs753229529 TNKS1BP1 Nonsynonymous SNV G1266R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 140244 chr11 76867115 76867115 C A rs121965079 MYO7A Synonymous SNV R150R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.48 140245 chr11 76868002 76868002 C T rs371142158 MYO7A Synonymous SNV G229G 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Likely benign 17.95 140246 chr11 94554713 94554713 C T rs200516726 AMOTL1 Nonsynonymous SNV P330L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 140247 chr12 14664530 14664530 G A PLBD1 Synonymous SNV L320L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.6 140248 chr12 13906391 13906391 G A rs1124894 GRIN2B Synonymous SNV P290P 0.007 0.005 0.01 2 8 2 0.005 3 0 0 0 0 Benign/Likely benign 9.038 140249 chr11 57958382 57958393 CCGCTGGGGCCT - OR9Q2 R141_L144del 0.001 0 0 0 1 0 0 0 0 0 0 0 140250 chr1 11255057 11255057 C T rs199735358 ANGPTL7 Nonsynonymous SNV R340C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 140251 chr12 1702470 1702470 G A rs34042069 FBXL14 Synonymous SNV L255L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 4.686 140252 chr1 114280790 114280790 C G PHTF1 Nonsynonymous SNV W91C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 33 140253 chr2 27479380 27479380 G A rs146572471 SLC30A3 Nonsynonymous SNV R285C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.8 140254 chr2 27685971 27685971 C T rs138511988 IFT172 Nonsynonymous SNV R672Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 18.81 140255 chr2 27746150 27746150 C T rs148860015 GCKR Synonymous SNV A574A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.14 140256 chr1 116948551 116948551 C G rs114408157 ATP1A1-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 5.285 140257 chr1 11718797 11718797 G A rs142346784 FBXO44 Nonsynonymous SNV R123H 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 25.7 140258 chr11 58892688 58892688 G A rs145856150 FAM111B Nonsynonymous SNV R343Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.85 140259 chr1 117544480 117544483 TGAG - rs755410516 CD101 L14_T15delinsP 0 0 0.003 0 0 0 0 1 0 0 0 0 140260 chr1 93687292 93687292 A G rs200891592 CCDC18 Nonsynonymous SNV S696G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.54 140261 chr2 27445109 27445109 C T rs150948363 CAD Synonymous SNV L134L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 14.38 140262 chr12 106897997 106897997 C T rs188914862 POLR3B Synonymous SNV V1021V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 140263 chr12 25705804 25705804 C T rs118038819 LMNTD1 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 10.86 140264 chr11 5969321 5969321 T G OR56A3 Nonsynonymous SNV F249V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 140265 chr1 1231208 1231208 C T rs61744741 ACAP3 Nonsynonymous SNV C538Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 18.65 140266 chr1 12342990 12342990 G A rs41279452 VPS13D Nonsynonymous SNV E1611K 0.001 0.003 0.02 1 1 1 0.003 6 0 0 0 0 Benign 20.1 140267 chr1 12815650 12815650 T G rs71647059 C1orf158 Nonsynonymous SNV F38V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 24.5 140268 chr11 60230550 60230550 C A rs199747240 MS4A1 Nonsynonymous SNV P79T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 140269 chr2 196545025 196545025 A T rs13419724 SLC39A10 Nonsynonymous SNV T87S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.1 140270 chr2 196723360 196723360 T C rs10195652 DNAH7 Synonymous SNV V2635V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 0.093 140271 chr2 196728897 196728897 G A DNAH7 Synonymous SNV N2494N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.549 140272 chr2 196728900 196728900 A G DNAH7 Synonymous SNV V2493V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.267 140273 chr1 150234141 150234141 - T rs199767397 SNORD13C 0 0 0.037 0 0 0 0 11 0 0 0 0 140274 chr2 37455232 37455232 C A rs35414551 CEBPZ Synonymous SNV V368V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 8.579 140275 chr2 37455454 37455454 G A CEBPZ Synonymous SNV I294I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.58 140276 chr1 109840856 109840856 G A rs201587393 MYBPHL Nonsynonymous SNV R57W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 140277 chr12 102572410 102572410 G T rs148483056 PARPBP Nonsynonymous SNV G268V 0.003 0 0 0 4 0 0 0 0 0 0 0 29.6 140278 chr1 151810824 151810824 C T rs532665002 C2CD4D Synonymous SNV L214L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 140279 chr12 4874548 4874548 G T GALNT8 Nonsynonymous SNV V533F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 140280 chr2 61315587 61315587 G A rs188631150 KIAA1841 Nonsynonymous SNV V212I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.83 140281 chr12 106717353 106717353 G C rs766458271 TCP11L2 Nonsynonymous SNV R234T 0.003 0 0 0 3 0 0 0 0 0 0 0 28.7 140282 chr12 49361897 49361897 G A rs753840386 WNT10B Synonymous SNV G181G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.705 140283 chr2 65301445 65301445 C G CEP68 Nonsynonymous SNV I638M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 140284 chr1 153603018 153603018 G A rs142954586 S100A1 Synonymous SNV T7T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.84 140285 chr1 154148719 154148719 C T rs149765446 TPM3 Synonymous SNV E46E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 140286 chr12 109292482 109292482 C T rs149956241 DAO Synonymous SNV I241I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.087 140287 chr12 109577776 109577776 G A rs118018469 ACACB Nonsynonymous SNV R189Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18 140288 chr11 64111779 64111779 C T rs201313417 CCDC88B Nonsynonymous SNV P589L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.532 140289 chr2 53941680 53941680 C T rs773732902 ASB3, GPR75-ASB3 Nonsynonymous SNV C201Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 140290 chr2 69009374 69009374 T C ARHGAP25 Nonsynonymous SNV Y84H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.642 140291 chr1 154947281 154947281 G T CKS1B 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 140292 chr15 35746966 35746966 C T rs146910158 DPH6 Nonsynonymous SNV R123H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 140293 chr12 122294264 122294264 G A rs984792300 HPD Nonsynonymous SNV A97V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.5 140294 chr2 61508345 61508345 G A USP34 Synonymous SNV L1677L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.903 140295 chr2 71357803 71357803 C T rs771476171 MPHOSPH10 Nonsynonymous SNV P3L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 140296 chr12 112221083 112221083 G A rs758915089 ALDH2 Nonsynonymous SNV R114Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 140297 chr12 112589731 112589731 C T TRAFD1 Nonsynonymous SNV T469I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 140298 chr12 112590271 112590271 G T TRAFD1 Nonsynonymous SNV A554S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.891 140299 chr15 40699856 40699856 A T rs145999491 IVD Nonsynonymous SNV K39M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 140300 chr12 123470786 123470786 G C PITPNM2 Nonsynonymous SNV L1274V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 140301 chr2 74652006 74652006 G A rs754346230 WDR54 Nonsynonymous SNV C128Y 0 0 0 1 0 0 0.003 0 0 0 0 0 16.56 140302 chr2 71169489 71169489 T G ATP6V1B1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.24 140303 chr2 71169563 71169563 C G ATP6V1B1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.419 140304 chr1 15832494 15832494 G A rs145320383 CASP9 Synonymous SNV H237H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.69 140305 chr12 53227908 53227908 C T rs144706200 KRT79 Nonsynonymous SNV G46D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.4 140306 chr15 42363729 42363729 A - rs780955409 PLA2G4D S532Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 140307 chr11 66114030 66114030 G A rs1190625 B4GAT1 Synonymous SNV Y329Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 3.378 140308 chr12 131291603 131291603 G A STX2 Synonymous SNV A129A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.383 140309 chr11 66278154 66278154 T C rs55848325 BBS1 Synonymous SNV D8D 0.009 0.008 0.003 7 11 3 0.018 1 0 0 0 0 Benign/Likely benign 1.308 140310 chr15 42693962 42693962 G A rs143583537 CAPN3 Nonsynonymous SNV R445Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 140311 chr12 132241092 132241092 G A rs34225497 SFSWAP Synonymous SNV A541A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 140312 chr15 43268935 43268935 A G rs756125307 UBR1 Nonsynonymous SNV I1450T 0.002 0 0 0 2 0 0 0 0 0 0 0 29 140313 chr12 132635870 132635870 C T rs758550684 NOC4L Nonsynonymous SNV R344C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 140314 chr2 75276649 75276649 C T rs34117315 TACR1 Synonymous SNV S378S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 8.641 140315 chr2 84745007 84745007 C T rs553436773 DNAH6 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 140316 chr1 160262410 160262410 G T COPA Nonsynonymous SNV L951I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 140317 chr1 155006109 155006109 C G rs752472542 DCST2 Synonymous SNV V23V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.047 140318 chr12 124086736 124086736 T G rs141195308 DDX55 Nonsynonymous SNV V14G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 10.79 140319 chr12 56563602 56563602 C T rs778409218 SMARCC2 Nonsynonymous SNV D805N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 140320 chr15 45047231 45047231 G T rs144379917 TRIM69 Nonsynonymous SNV W47L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.027 140321 chr1 161161320 161161320 C G ADAMTS4 Nonsynonymous SNV G708R 0 0 0.003 0 0 0 0 1 0 0 0 0 30 140322 chr12 124824861 124824861 G A NCOR2 Nonsynonymous SNV H1813Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 140323 chr12 57441459 57441459 G A rs121909305 MYO1A Stop gain R93X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 140324 chr2 233127938 233127938 C G rs186865544 DIS3L2 Nonsynonymous SNV R483G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 140325 chr12 56398531 56398531 G A rs76537761 SUOX Nonsynonymous SNV G453D 0.006 0.005 0.014 3 7 2 0.008 4 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 140326 chr1 162346484 162346484 G A SPATA46 Synonymous SNV L33L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.901 140327 chr2 86258625 86258625 C T rs778615322 POLR1A Nonsynonymous SNV G1469D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.561 140328 chr2 86269166 86269166 C T rs200880797 POLR1A Nonsynonymous SNV A1140T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.82 140329 chr1 16262373 16262373 C T rs372303430 SPEN Nonsynonymous SNV A3213V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 140330 chr2 233410388 233410388 C T rs71421651 CHRNG Nonsynonymous SNV P506S 0.008 0.005 0 0 9 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 140331 chr2 86831455 86831455 C A rs61760873 RNF103 Nonsynonymous SNV Q523H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.18 140332 chr12 57111230 57111230 T C rs201868752 NACA Nonsynonymous SNV T1362A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 4.286 140333 chr2 102968039 102968039 G A rs111942110 IL1RL1 Synonymous SNV R443R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 7.228 140334 chr12 129467579 129467582 GAAA - rs755238228 GLT1D1 R194Tfs*50 0.001 0 0 0 1 0 0 0 0 0 0 0 140335 chr2 99013251 99013251 G A rs116448158 CNGA3 Nonsynonymous SNV V522I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 15.12 140336 chr12 65563721 65563721 A G rs530591432 LEMD3 Synonymous SNV P115P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.003 140337 chr2 111428136 111428136 C T rs1801636 BUB1 Synonymous SNV Q124Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 15.64 140338 chr12 662507 662507 G A rs777975379 B4GALNT3 Nonsynonymous SNV R473Q 0.001 0.013 0 0 1 5 0 0 0 0 0 0 13.77 140339 chr12 133219875 133219875 G A POLE Nonsynonymous SNV H1496Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 140340 chr11 74208033 74208033 A G rs114232326 LOC100287896 Nonsynonymous SNV H28R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.887 140341 chr2 238277523 238277523 A G COL6A3 Nonsynonymous SNV F921S 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 140342 chr12 69651894 69651894 C T CPSF6 Synonymous SNV S258S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.85 140343 chr12 6626015 6626015 G A rs143795587 NCAPD2 Nonsynonymous SNV V337M 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 140344 chr1 17312560 17312560 C T rs542270701 ATP13A2 Nonsynonymous SNV V1133I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.199 140345 chr12 66700273 66700273 G A rs12227179 HELB Synonymous SNV P252P 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 12.93 140346 chr12 15134334 15134334 A G rs201547440 PDE6H Nonsynonymous SNV D59G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 140347 chr15 64017699 64017699 T C rs368113274 HERC1 Synonymous SNV L1120L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.482 140348 chr15 64067202 64067202 T C rs376415713 HERC1 Synonymous SNV S207S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 1.169 140349 chr12 6777072 6777072 - TGCTGC ZNF384 Q400_P401insQQ 0.003 0 0 1 4 0 0.003 0 0 0 0 0 140350 chr15 64967047 64967047 C G rs370988343 ZNF609 Nonsynonymous SNV P665R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24.3 140351 chr1 17682489 17682489 G A PADI4 Nonsynonymous SNV R441Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 140352 chr15 66618535 66618535 C T rs147001000 DIS3L Synonymous SNV H552H 0.003 0 0.007 0 4 0 0 2 0 0 0 0 14.86 140353 chr12 21728874 21728874 C T rs149533049 GYS2 Nonsynonymous SNV G141S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 27 140354 chr12 22047091 22047091 C T rs76458291 ABCC9 Synonymous SNV A559A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.58 140355 chr11 82976952 82976952 T A rs775485324 CCDC90B Nonsynonymous SNV T107S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 140356 chr15 69715633 69715633 A G rs61750337 KIF23 Synonymous SNV L123L 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 Benign 0.391 140357 chr2 138169334 138169334 C T rs564630499 THSD7B Nonsynonymous SNV R951W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 140358 chr15 72582573 72582573 T C CELF6 Nonsynonymous SNV M25V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 140359 chr2 152293353 152293353 C T rs145491800 RIF1 Nonsynonymous SNV P403L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.46 140360 chr1 171506502 171506502 C T rs147784836 PRRC2C Synonymous SNV H796H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.26 140361 chr2 152382717 152382717 C T rs201400523 NEB Synonymous SNV T5634T 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.94 140362 chr2 152409221 152409221 C T rs553079055 NEB Nonsynonymous SNV V4900M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 27.5 140363 chr2 128065166 128065166 G A rs771152647 MAP3K2 Nonsynonymous SNV H617Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 140364 chr1 185984432 185984432 G A rs140480677 HMCN1 Nonsynonymous SNV S1591N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 13.15 140365 chr11 9082068 9082068 G A rs72547298 SCUBE2 Nonsynonymous SNV T285M 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 31 140366 chr2 158272652 158272652 T C rs146490977 CYTIP Nonsynonymous SNV D206G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.17 140367 chr3 12447469 12447469 C A PPARG Synonymous SNV S208S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 140368 chr12 89916695 89916695 T A rs748105297 GALNT4, POC1B-GALNT4 Synonymous SNV S544S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.835 140369 chr15 78474939 78474939 G C ACSBG1 Nonsynonymous SNV L251V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 140370 chr2 135745791 135745791 C T rs776520231 MAP3K19 Synonymous SNV T104T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 140371 chr12 91445245 91445245 G A rs121917863 KERA Stop gain R313X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Pathogenic 35 140372 chr1 19491376 19491376 T C UBR4 Synonymous SNV P1476P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.533 140373 chr2 160811833 160811833 C T rs200114626 PLA2R1 Nonsynonymous SNV V1060I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.004 140374 chr1 19549273 19549273 T C rs146394541 EMC1 Nonsynonymous SNV Y789C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 140375 chr2 150327197 150327197 G T rs148448237 LYPD6 Nonsynonymous SNV V117F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 140376 chr2 163070559 163070559 C T rs141624108 FAP Synonymous SNV T272T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.98 140377 chr2 165969502 165969502 C G rs761181797 SCN3A Nonsynonymous SNV V1197L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.6 140378 chr1 197115430 197115430 C G rs752635802 ASPM Nonsynonymous SNV R46S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 140379 chr1 197396761 197396761 G A rs62636287 CRB1 Nonsynonymous SNV R657H 0.004 0.003 0.01 2 5 1 0.005 3 0 0 0 0 Benign/Likely benign 3.556 140380 chr12 102542181 102542181 T C rs143799695 PARPBP Synonymous SNV D109D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 140381 chr3 25761112 25761112 A G rs112709918 NGLY1 Nonsynonymous SNV S584P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 140382 chr13 103396553 103396553 C T rs201049770 CCDC168 Nonsynonymous SNV R2165Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.939 140383 chr12 106633162 106633162 G A rs145284636 CKAP4 Synonymous SNV Y483Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.792 140384 chr13 102845387 102845387 G A rs77217506 FGF14 Nonsynonymous SNV H2Y 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 1.568 140385 chr12 52115484 52115484 G A rs755358223 SCN8A Nonsynonymous SNV R597H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.4 140386 chr1 203740057 203740057 G A rs41264259 LAX1 Nonsynonymous SNV R48Q 0.005 0.005 0.02 2 6 2 0.005 6 0 0 0 0 24.4 140387 chr1 201752846 201752846 G A NAV1 Nonsynonymous SNV M499I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 140388 chr12 110989666 110989666 C A PPTC7 Nonsynonymous SNV V111L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 140389 chr3 40503526 40503526 - CTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 140390 chr2 183699592 183699592 C T rs150679557 FRZB Nonsynonymous SNV R321Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 140391 chr15 90210976 90210976 G A rs8179070 PLIN1 Nonsynonymous SNV R274W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 140392 chr12 56664028 56664028 G A rs369959031 COQ10A Nonsynonymous SNV R192Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 25.7 140393 chr1 205589371 205589371 G A ELK4 Nonsynonymous SNV P268L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 140394 chr12 113400654 113400654 - ACTGAGGACCCAGCCATGAGAATGCACCT OAS3 Frameshift insertion G689Rfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 140395 chr15 91425038 91425038 C T rs146218928 FURIN Nonsynonymous SNV P772L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 140396 chr12 11420580 11420580 C T rs375731986 PRB3 Synonymous SNV P201P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.213 140397 chr13 26349045 26349045 C G ATP8A2 Nonsynonymous SNV T836S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 140398 chr13 27255299 27255299 C G WASF3 Nonsynonymous SNV H272Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.008 140399 chr2 189918182 189918182 G A COL5A2 Nonsynonymous SNV P841S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 140400 chr2 190541788 190541788 A C rs141582205 ANKAR Nonsynonymous SNV K191T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 19.57 140401 chr1 212190343 212190343 T C rs779621920 INTS7 Nonsynonymous SNV I83V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 140402 chr2 185803100 185803100 C T ZNF804A Nonsynonymous SNV R993C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 140403 chr1 220280414 220280414 G A rs751885806 IARS2 Synonymous SNV V416V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 140404 chr12 56332730 56332730 G A DGKA Nonsynonymous SNV R144Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 140405 chr13 39454452 39454452 C T rs114400765 FREM2 Nonsynonymous SNV T3013M 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 140406 chr13 33638054 33638054 A C KL Synonymous SNV R924R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.005 140407 chr16 1544313 1544313 G A rs140903666 TELO2 Nonsynonymous SNV A11T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 0.104 140408 chr1 222801661 222801661 A T rs142088763 MIA3 Nonsynonymous SNV T367S 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 Benign 0.463 140409 chr16 1544314 1544314 C A rs144863771 TELO2 Nonsynonymous SNV A11D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.257 140410 chr2 202074217 202074217 T C rs147814983 CASP10 Synonymous SNV F382F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.132 140411 chr13 40229915 40229915 A T COG6 Nonsynonymous SNV N18Y 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 140412 chr13 45554054 45554054 C T rs150488603 NUFIP1 Nonsynonymous SNV E210K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.2 140413 chr13 47409005 47409005 G A rs139888059 HTR2A Synonymous SNV S377S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.081 140414 chr12 79986405 79986405 C A rs8176908 PAWR Synonymous SNV V335V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 13.92 140415 chr1 227288849 227288849 A G CDC42BPA Nonsynonymous SNV I617T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 140416 chr2 211465298 211465298 A G rs140475976 CPS1 Synonymous SNV R523R 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.244 140417 chr12 13237921 13237921 C T rs745875459 GSG1 Nonsynonymous SNV E248K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 140418 chr12 80998960 80998960 G A PTPRQ 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 140419 chr2 210893623 210893623 A G rs143543856 KANSL1L Nonsynonymous SNV L739S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 28.9 140420 chr12 86199335 86199335 A C rs373584269 RASSF9 Synonymous SNV T151T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.001 140421 chr2 216983811 216983811 C T XRCC5 Synonymous SNV L138L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.68 140422 chr1 228109467 228109467 G T rs377260476 WNT9A Nonsynonymous SNV P284T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 140423 chr1 228336424 228336424 C T rs376841293 GUK1 Synonymous SNV P199P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 140424 chr1 228474663 228474663 G A OBSCN Nonsynonymous SNV G3156E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 140425 chr12 133438137 133438137 G T CHFR Nonsynonymous SNV P143T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.003 140426 chr13 72440726 72440726 G A rs759575601 DACH1 Nonsynonymous SNV A61V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 140427 chr12 133810794 133810794 T C rs568867315 ANHX Nonsynonymous SNV Q50R 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 0.002 140428 chr12 68709990 68709990 A C MDM1 Nonsynonymous SNV V70G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.56 140429 chr2 216295523 216295523 C A rs772202402 FN1 Synonymous SNV T200T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 140430 chr12 14976035 14976035 A T rs140864709 C12orf60 Nonsynonymous SNV I56F 0.004 0 0.003 0 5 0 0 1 0 0 0 0 10.14 140431 chr13 92101156 92101156 G A rs772585092 GPC5 Nonsynonymous SNV R102Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 140432 chr12 70273165 70273165 C G rs140452304 MYRFL Nonsynonymous SNV D132E 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 14.93 140433 chr13 95363809 95363809 G C SOX21 Synonymous SNV A165A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.016 140434 chr12 70729219 70729219 C T rs772460902 CNOT2 Synonymous SNV D217D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 140435 chr16 2550899 2550899 C T rs781723084 TBC1D24 Synonymous SNV S534S 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.69 140436 chr12 2022196 2022196 G A rs202054008 CACNA2D4 Nonsynonymous SNV A140V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 27.7 140437 chr3 68929886 68929886 T A rs200368314 TAFA4 Nonsynonymous SNV H42L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 140438 chr13 99907263 99907263 G A rs1004013686 GPR18 Synonymous SNV I288I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.65 140439 chr12 21349895 21349895 C T rs774398133 SLCO1B1 Nonsynonymous SNV T248I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 140440 chr16 28962567 28962567 C T rs772726238 NFATC2IP Nonsynonymous SNV P79S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.601 140441 chr12 7843089 7843089 G A rs141133108 GDF3 Synonymous SNV T160T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 2.183 140442 chr1 234745181 234745181 G A rs540914447 IRF2BP2 Synonymous SNV D20D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 140443 chr16 2983147 2983147 C T rs74005527 FLYWCH1 Synonymous SNV L271L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.73 140444 chr16 2983536 2983536 C T rs74005528 FLYWCH1 Nonsynonymous SNV T401I 0.003 0 0 0 3 0 0 0 0 0 0 0 5.761 140445 chr16 29872546 29872546 C T rs373387977 CDIPT Synonymous SNV T26T 0.003 0 0 0 4 0 0 0 0 0 0 0 18.4 140446 chr1 231339731 231339731 G A rs770076160 TRIM67 Synonymous SNV L551L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.313 140447 chr1 236157059 236157059 G A rs149027520 NID1 Nonsynonymous SNV H881Y 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 0.053 140448 chr1 231339743 231339743 C T rs368294541 TRIM67 Synonymous SNV A555A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.21 140449 chr3 100567707 100567707 G A rs201342605 ABI3BP Nonsynonymous SNV T441I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 140450 chr3 101476645 101476645 C T rs145072852 CEP97 Nonsynonymous SNV L399F 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 140451 chr16 30536354 30536354 G A rs758969203 ZNF768 Synonymous SNV H369H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.086 140452 chr2 224642569 224642569 G A AP1S3 Synonymous SNV L7L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.248 140453 chr12 89861436 89861436 T C POC1B Synonymous SNV S237S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.705 140454 chr1 235667466 235667466 G A B3GALNT2 Synonymous SNV A29A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.056 140455 chr1 235909692 235909692 A T rs915990956 LYST Nonsynonymous SNV L2639H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 140456 chr1 245850166 245850166 C T rs201987019 KIF26B Nonsynonymous SNV S1294L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 24.6 140457 chr2 231042873 231042873 C T rs149485401 SP110 Nonsynonymous SNV G483R 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign/Likely benign 28.6 140458 chr2 231042877 231042877 T C rs144396533 SP110 Synonymous SNV K481K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 140459 chr14 105960190 105960190 G A rs140812013 TEDC1 Nonsynonymous SNV G202S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24 140460 chr13 113201868 113201882 TGGGAAAGTCGCGCG - TUBGCP3 T412_P416del 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 140461 chr14 105964193 105964193 T G TEDC1 Nonsynonymous SNV F244C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.68 140462 chr16 3350396 3350396 C T rs114688859 TIGD7 Synonymous SNV T73T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.945 140463 chr16 3367569 3367569 G A rs78977271 ZNF75A Synonymous SNV R79R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.579 140464 chr16 336898 336898 G A rs199589252 PDIA2 Nonsynonymous SNV V496M 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 5.968 140465 chr12 97015468 97015468 G T CFAP54 Nonsynonymous SNV G1247V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.53 140466 chr3 112998815 112998815 A G rs202019169 BOC Nonsynonymous SNV D723G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 140467 chr13 115052085 115052085 G A rs752305817 UPF3A Synonymous SNV A3A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.326 140468 chr2 233697706 233697706 A G rs774277772 GIGYF2 Nonsynonymous SNV Q884R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 140469 chr2 233712139 233712139 C T rs767282894 GIGYF2 Nonsynonymous SNV T1175I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 140470 chr2 233537102 233537102 C T rs546425742 EFHD1 Synonymous SNV I82I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.69 140471 chr14 21024898 21024898 C T rs771719636 RNASE9 Nonsynonymous SNV E111K 0.003 0 0 0 3 0 0 0 0 0 0 0 23 140472 chr12 49742808 49742808 G A rs143506454 DNAJC22 Synonymous SNV K51K 0.005 0 0.003 7 6 0 0.018 1 0 0 0 0 7.29 140473 chr12 50188797 50188797 G A rs546623210 NCKAP5L Nonsynonymous SNV P949L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.7 140474 chr14 21543514 21543514 C T rs61739627 ARHGEF40 Synonymous SNV L492L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.294 140475 chr14 21550198 21550198 C T rs61743056 ARHGEF40 Synonymous SNV H343H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.62 140476 chr14 21550499 21550499 G A rs61746329 ARHGEF40 Synonymous SNV T402T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 13 140477 chr2 237076426 237076426 - GGC rs545073704 GBX2 P63_A64insP 0.001 0 0 0 1 0 0 0 0 0 0 0 140478 chr3 121712760 121712760 G A ILDR1 Nonsynonymous SNV P190L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 140479 chr13 109792727 109792727 G A rs78673011 MYO16 Synonymous SNV S1389S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.545 140480 chr14 21623182 21623182 C T rs61755187 OR5AU1 Nonsynonymous SNV V284M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.363 140481 chr1 26527998 26527998 T A rs149949236 CATSPER4 Synonymous SNV V451V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.81 140482 chr12 51590638 51590638 C T rs151163072 POU6F1 Nonsynonymous SNV A307T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 19.75 140483 chr2 238990373 238990373 A G rs372684004 SCLY Nonsynonymous SNV K170E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.817 140484 chr1 27223967 27223967 T C rs35243557 GPATCH3 Nonsynonymous SNV N234S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.44 140485 chr1 28832551 28832551 C T rs556589436 SNHG3 0 0 0.003 0 0 0 0 1 0 0 0 0 6.826 140486 chr2 241808347 241808347 A G rs34885252 AGXT Nonsynonymous SNV N22S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.001 140487 chr2 241812428 241812428 C T rs117195882 AGXT Nonsynonymous SNV A186V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.39 140488 chr2 241812461 241812461 G A rs34664134 AGXT Nonsynonymous SNV R197Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.57 140489 chr2 241818201 241818201 G A rs151185188 AGXT Nonsynonymous SNV R381K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.002 140490 chr12 52790747 52790747 G A rs139209735 KRT82 Nonsynonymous SNV R330C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.8 140491 chr14 24031191 24031191 G A AP1G2 Synonymous SNV F190F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.04 140492 chr1 31660916 31660916 C T NKAIN1 Nonsynonymous SNV R58H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 140493 chr2 241870534 241870534 G A rs75494813 CROCC2 Synonymous SNV A312A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 7.024 140494 chr13 41507772 41507772 C T rs773346594 ELF1 Nonsynonymous SNV G526D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 140495 chr2 241873180 241873180 A G rs74000152 CROCC2 Synonymous SNV A519A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 0.447 140496 chr2 241874893 241874893 G A rs78656795 CROCC2 Nonsynonymous SNV R686H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 19.77 140497 chr2 241889798 241889798 C T rs117091177 CROCC2 Synonymous SNV C900C 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 3.096 140498 chr13 42793468 42793468 C A rs61757579 DGKH Nonsynonymous SNV H861N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 140499 chr2 242066291 242066291 G A rs200053420 PASK Nonsynonymous SNV A680V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 140500 chr13 42877284 42877284 G C AKAP11 Nonsynonymous SNV D1468H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 140501 chr2 242396302 242396302 G A rs746757859 FARP2 Nonsynonymous SNV G518R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.731 140502 chr16 57758736 57758736 C T rs114195136 DRC7 Nonsynonymous SNV R518W 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 29.4 140503 chr13 45601935 45601935 G A rs146604110 GPALPP1 Nonsynonymous SNV E274K 0.003 0.01 0 0 4 4 0 0 0 0 0 0 34 140504 chr2 242695288 242695288 A T D2HGDH Nonsynonymous SNV I255F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 140505 chr13 46357584 46357584 G A rs541734940 SIAH3 Synonymous SNV N248N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.353 140506 chr14 33292155 33292155 G A rs375264170 AKAP6 Synonymous SNV P1712P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.605 140507 chr3 3189140 3189140 C G rs187921784 TRNT1 Nonsynonymous SNV P250R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 31 140508 chr16 613924 613924 C T rs778733653 PRR35 Synonymous SNV G210G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.048 140509 chr2 11593849 11593849 C A E2F6, E2F6 Nonsynonymous SNV R5I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 140510 chr16 66998370 66998370 C T rs113184828 CES3 Nonsynonymous SNV T224I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.2 140511 chr1 3768919 3768919 C A rs775734984 CEP104 Nonsynonymous SNV G18V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 140512 chr13 28834614 28834614 A G rs141680941 PAN3 Nonsynonymous SNV T427A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.47 140513 chr13 52524439 52524439 G A rs200996053 ATP7B Synonymous SNV G686G 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.68 140514 chr3 11300765 11300765 G A rs79314450 HRH1 Nonsynonymous SNV M14I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 20.2 140515 chr14 50792439 50792439 T G DMAC2L X201E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 140516 chr14 45605465 45605465 C T rs377164876 FANCM Synonymous SNV T77T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 1.014 140517 chr12 56503066 56503066 C T rs200413925 PA2G4 Nonsynonymous SNV T180M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.9 140518 chr16 71689321 71689321 G T PHLPP2 Nonsynonymous SNV L736I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 140519 chr12 57111579 57111579 A T NACA Synonymous SNV A1245A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.996 140520 chr3 16313193 16313193 T A OXNAD1 Nonsynonymous SNV D67E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 140521 chr1 43914052 43914052 G T rs371736872 SZT2 Nonsynonymous SNV G3232V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 140522 chr14 100801350 100801350 G A WARS1 Synonymous SNV L385L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 12.85 140523 chr3 17279844 17279844 T G rs758524084 TBC1D5 Nonsynonymous SNV K331Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.8 140524 chr1 45110392 45110392 C T rs778362041 RNF220 Synonymous SNV S170S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 140525 chr1 45250408 45250408 A G BEST4 Synonymous SNV A347A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.143 140526 chr1 46080844 46080844 A G rs147650410 NASP Nonsynonymous SNV K545R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.11 140527 chr3 20161096 20161096 A G rs17006625 KAT2B Nonsynonymous SNV N386S 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.001 140528 chr3 20212621 20212621 T G rs75326306 SGO1 Synonymous SNV P193P 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.386 140529 chr3 27343261 27343261 C T rs75891446 NEK10 Nonsynonymous SNV R365Q 0.003 0.013 0.003 2 4 5 0.005 1 0 1 0 0 25.2 140530 chr3 32031143 32031143 C T rs776939738 ZNF860 Nonsynonymous SNV T191M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.31 140531 chr13 52646150 52646150 T C rs920930397 NEK5 Synonymous SNV E593E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.1 140532 chr1 52263959 52263959 A G NRDC Nonsynonymous SNV F856L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 140533 chr16 81654484 81654484 G A rs769006713 CMIP Nonsynonymous SNV A50T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.95 140534 chr16 81654485 81654485 C A rs774601270 CMIP Nonsynonymous SNV A50D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 140535 chr2 31560581 31560581 C T XDH Nonsynonymous SNV E1293K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 140536 chr2 31569708 31569708 G A rs553426035 XDH Nonsynonymous SNV A1093V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 140537 chr13 61102589 61102589 G C rs61968686 TDRD3 Synonymous SNV L410L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.071 140538 chr12 67706543 67706543 C T rs144591336 CAND1 Nonsynonymous SNV A1209V 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 140539 chr2 33745697 33745697 T C rs11680495 RASGRP3 Nonsynonymous SNV V105A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.42 140540 chr12 69967914 69967914 G A rs61759369 FRS2 Nonsynonymous SNV E236K 0.003 0 0 0 4 0 0 0 0 0 0 0 15.77 140541 chr14 105399270 105399270 C T rs763677157 PLD4 Nonsynonymous SNV A504V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.482 140542 chr3 168861536 168861536 C A rs116535717 MECOM Nonsynonymous SNV A30S 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 25.5 140543 chr3 39111208 39111208 A G WDR48 Synonymous SNV A133A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.578 140544 chr2 39187666 39187666 C G ARHGEF33 Synonymous SNV A740A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.317 140545 chr3 39228090 39228090 C T rs751741273 XIRP1 Synonymous SNV P949P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.196 140546 chr3 39229494 39229494 G A XIRP1 Synonymous SNV S481S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.41 140547 chr12 7362285 7362285 T C rs144165818 PEX5 Synonymous SNV L515L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.851 140548 chr14 68029077 68029077 G A rs199980512 PLEKHH1 Synonymous SNV T243T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 7.768 140549 chr2 42946197 42946197 G A rs900529164 MTA3 Nonsynonymous SNV C468Y 0 0.01 0 0 0 4 0 0 0 0 0 0 25.2 140550 chr12 75737595 75737595 T C rs56713198 GLIPR1L1 Synonymous SNV N99N 0.003 0 0 0 4 0 0 0 0 0 0 0 3.293 140551 chr14 68086741 68086741 A G rs17185189 ARG2 Nonsynonymous SNV H16R 0.009 0.013 0.003 1 10 5 0.003 1 0 0 0 0 0.003 140552 chr2 43625278 43625278 C A rs56269749 THADA Nonsynonymous SNV R1353S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Benign 27.3 140553 chr3 40523832 40523832 T C rs187871930 ZNF619 Nonsynonymous SNV L97S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 140554 chr16 85022435 85022435 A C rs539054459 ZDHHC7 Synonymous SNV T120T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.013 140555 chr12 78531075 78531075 T A NAV3 Nonsynonymous SNV S1520R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 140556 chr16 85024195 85024195 G A rs148637342 ZDHHC7 Synonymous SNV D10D 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 12.68 140557 chr14 102675837 102675837 G T rs12888595 WDR20 Nonsynonymous SNV G383C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.6 140558 chr3 44762710 44762710 T A rs751492767 ZNF502 Nonsynonymous SNV I134K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 140559 chr16 88497221 88497221 C T rs958736658 ZNF469 Nonsynonymous SNV R1115W 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 140560 chr2 50765452 50765452 C T rs773229921 NRXN1 Synonymous SNV G666G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.52 140561 chr14 104195252 104195252 C A ZFYVE21 Synonymous SNV T122T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 140562 chr2 66666604 66666604 C T rs189292710 MEIS1-AS2 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.266 140563 chr16 88947723 88947723 C T rs200535158 CBFA2T3 Nonsynonymous SNV A374T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.72 140564 chr12 95868081 95868081 G A rs202193620 METAP2 Synonymous SNV K42K 0.003 0 0 0 4 0 0 0 0 0 0 0 14.5 140565 chr12 96384302 96384302 G T rs145831585 HAL Nonsynonymous SNV L34M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 24.5 140566 chr16 89349466 89349466 C T rs749473676 ANKRD11 Nonsynonymous SNV D1162N 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 140567 chr16 8948932 8948932 C T rs529984276 LOC100130283 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.109 140568 chr12 97015395 97015395 C T CFAP54 Synonymous SNV L1223L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 140569 chr3 48481977 48481977 A G rs755387356 TMA7 Synonymous SNV Q33Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.74 140570 chr14 23886775 23886775 C A rs372476972 MYH7 Synonymous SNV V1430V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 16.02 140571 chr12 99053093 99053093 C T rs747369160 APAF1 Nonsynonymous SNV R217C 0.003 0 0 0 4 0 0 0 0 0 0 0 33 140572 chr3 49694393 49694393 G A rs780064311 BSN Synonymous SNV E2468E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.462 140573 chr13 102235629 102235629 T C rs759322869 ITGBL1 Nonsynonymous SNV I123T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 140574 chr3 50326292 50326292 C T rs139030386 IFRD2 Nonsynonymous SNV R385H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 140575 chr3 50391167 50391167 C T rs114924982 CYB561D2 Stop gain Q221X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 140576 chr3 51980270 51980270 C G rs781243530 PARP3 Nonsynonymous SNV T403S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 140577 chr14 24879181 24879181 C T rs756222850 NYNRIN Synonymous SNV S727S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 140578 chr3 49691682 49691682 G A rs752374668 BSN Nonsynonymous SNV A1565T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.35 140579 chr1 887967 887967 G A rs199569261 NOC2L Nonsynonymous SNV T339M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 140580 chr3 49848458 49848458 C A rs563715191 UBA7 Stop gain E397X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 140581 chr3 49935526 49935526 T G rs35986685 MST1R Nonsynonymous SNV Q507P 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 Benign 14.51 140582 chr3 49940812 49940812 G T rs56204949 MST1R Synonymous SNV R77R 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 7.957 140583 chr14 31576188 31576188 T C rs202003389 HECTD1 Nonsynonymous SNV H2297R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 140584 chr3 52771577 52771577 T C rs72960250 NEK4 Nonsynonymous SNV R774G 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 1.86 140585 chr14 36003698 36003698 T C rs112804872 INSM2 Synonymous SNV A80A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.617 140586 chr4 1803162 1803162 G A rs529408918 FGFR3 Nonsynonymous SNV V172I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.63 140587 chr3 52356547 52356547 C A DNAH1 Nonsynonymous SNV T30N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 140588 chr3 52413980 52413980 A G DNAH1 Synonymous SNV R2479R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.8 140589 chr14 36947029 36947029 C T rs947007505 SFTA3 0.001 0.01 0 3 1 4 0.008 0 0 0 0 0 8.832 140590 chr3 52842604 52842604 C T rs373376047 ITIH3 Synonymous SNV I860I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.31 140591 chr14 23371202 23371202 T A rs201314371 RBM23 Synonymous SNV P377P 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 11.79 140592 chr15 102358794 102358794 C G rs117551580 OR4F15 Nonsynonymous SNV I135M 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 140593 chr13 113832495 113832495 C T rs200574699 PCID2 Synonymous SNV P407P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.907 140594 chr15 22846897 22846897 G A rs145668941 TUBGCP5 Nonsynonymous SNV V258I 0.002 0.005 0.01 2 2 2 0.005 3 0 0 0 0 Benign 13.53 140595 chr3 57261922 57261922 T G APPL1 Nonsynonymous SNV I4S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 140596 chr15 25221479 25221479 T C rs373215950 SNRPN Synonymous SNV R61R 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.8 140597 chr14 23889324 23889324 C G MYH7 Nonsynonymous SNV E1152D 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 25.8 140598 chr1 92799008 92799008 G A rs199570582 RPAP2 Nonsynonymous SNV V506I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 31 140599 chr3 55922576 55922576 A G rs201871287 ERC2 Nonsynonymous SNV I800T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 140600 chr2 96992602 96992602 G A ITPRIPL1 Nonsynonymous SNV G86E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.77 140601 chr14 24113370 24113370 T C rs141543727 DHRS2 Nonsynonymous SNV V180A 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 0.001 140602 chr3 56592936 56592936 A G rs548084281 CCDC66 Star tloss Y25C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 140603 chr2 97327994 97327994 T C rs4907201 FER1L5 Nonsynonymous SNV I354T 0.002 0.003 0 1 2 1 0.003 0 1 0 0 0 15.86 140604 chr1 94041588 94041588 G A rs138816403 BCAR3 Synonymous SNV R271R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.68 140605 chr3 57132147 57132147 G C rs61743217 IL17RD Synonymous SNV G528G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.654 140606 chr2 98737874 98737874 G T rs139296152 VWA3B Stop gain E219X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 25.4 140607 chr2 98779397 98779397 G A rs149236888 VWA3B Nonsynonymous SNV V15M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 15.4 140608 chr3 57139918 57139918 G A rs139594643 IL17RD Synonymous SNV H238H 0 0 0 2 0 0 0.005 0 0 0 0 0 4.142 140609 chr3 67058593 67058593 C T rs142381130 KBTBD8 Synonymous SNV F530F 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 11.35 140610 chr14 51560857 51560857 C T rs61756358 TRIM9 Synonymous SNV G267G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 140611 chr15 32976839 32976839 C T rs202071901 ARHGAP11A-SCG5, SCG5 Nonsynonymous SNV P153L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 140612 chr3 73433842 73433842 G T rs573137126 PDZRN3 Nonsynonymous SNV F323L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.268 140613 chr1 98511733 98511733 - CCGCTGCCGCTGCTACCGCTGCCGCTGCTA rs778456539 MIR137HG 0 0 0.014 0 0 0 0 4 0 0 0 0 140614 chr3 78717307 78717307 T C rs374858268 ROBO1 Synonymous SNV T556T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.47 140615 chr14 55369202 55369202 G A rs142852146 GCH1 Synonymous SNV S60S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.68 140616 chr14 55369203 55369203 C A GCH1 Nonsynonymous SNV S60I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.9 140617 chr14 55369205 55369205 G A rs764067066 GCH1 Synonymous SNV R59R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.48 140618 chr3 98520449 98520449 C T rs115330244 DCBLD2 Nonsynonymous SNV R572Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 140619 chr3 96533494 96533494 G A EPHA6 Synonymous SNV A9A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.49 140620 chr3 96533497 96533497 G A EPHA6 Synonymous SNV R10R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.682 140621 chr4 8396350 8396350 T C ACOX3 Synonymous SNV R392R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.254 140622 chr13 32849018 32849018 G A FRY Nonsynonymous SNV A2726T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 140623 chr2 110303087 110303087 A G rs191256927 SEPTIN10 Nonsynonymous SNV I461T 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 10.77 140624 chr20 16359627 16359627 C T rs61754557 KIF16B Nonsynonymous SNV R1007Q 0 0 0.007 0 0 0 0 2 0 0 0 0 10.71 140625 chr2 113343571 113343571 C T rs759492737 CHCHD5 Nonsynonymous SNV T8I 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 27.5 140626 chr13 39266590 39266590 C T rs11619157 FREM2 Synonymous SNV A1703A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 14.36 140627 chr13 41525532 41525532 A G rs748913519 ELF1 Synonymous SNV T98T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.469 140628 chr13 42535109 42535109 C T rs543752211 VWA8 Nonsynonymous SNV G15S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.44 140629 chr3 111319698 111319698 C T rs1034652177 CD96 Synonymous SNV L342L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.816 140630 chr14 55433313 55433313 C A WDHD1 Nonsynonymous SNV W607C 0.014 0.005 0 2 16 2 0.005 0 0 0 0 0 33 140631 chr14 55907131 55907131 C T rs139846237 TBPL2 Nonsynonymous SNV D45N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 140632 chr17 29162839 29162839 A G ATAD5 Synonymous SNV E580E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.003 140633 chr13 47365508 47365508 C - rs761791763 ESD G14Dfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 140634 chr20 20232355 20232355 A G rs757746005 CFAP61 Nonsynonymous SNV D759G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 140635 chr20 22563192 22563192 G A FOXA2 Nonsynonymous SNV P230S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 140636 chr13 50118998 50118998 C T rs41284792 RCBTB1 Synonymous SNV E349E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.82 140637 chr3 113528211 113528211 C A rs149804500 ATP6V1A Synonymous SNV I597I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 140638 chr2 131521084 131521084 G A rs751793214 AMER3 Nonsynonymous SNV S480N 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25 140639 chr14 75151287 75151287 C T rs202176590 AREL1 Nonsynonymous SNV R38H 0.002 0 0 0 2 0 0 0 0 0 0 0 26 140640 chr3 119456294 119456294 C T rs371677982 MAATS1 Nonsynonymous SNV R350W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 140641 chr20 2375953 2375953 G A rs140860888 TGM6 Nonsynonymous SNV V99I 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.011 140642 chr20 25271171 25271171 G A rs766260508 PYGB Nonsynonymous SNV G628S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 140643 chr15 49528080 49528080 T - GALK2 I89Mfs*28 0 0.003 0 0 0 1 0 0 0 0 0 0 140644 chr15 52353680 52353680 C A MAPK6 Nonsynonymous SNV H350Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21 140645 chr20 30584395 30584395 G A rs140532579 XKR7 Nonsynonymous SNV R292Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 140646 chr3 122133916 122133916 C T rs756056936 WDR5B Nonsynonymous SNV V154M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 140647 chr17 3567532 3567532 G A TAX1BP3 Nonsynonymous SNV P65L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 140648 chr14 69350951 69350951 G A rs147072728 ACTN1 Synonymous SNV N523N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 140649 chr20 34148012 34148012 C T rs41293070 FER1L4 0 0 0.061 0 0 0 0 18 0 0 2 0 15.89 140650 chr14 73712703 73712703 - T rs201341386 LOC101928123 0.004 0.003 0 0 5 1 0 0 0 0 0 0 140651 chr20 3674997 3674997 C T SIGLEC1 Nonsynonymous SNV V1043M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 140652 chr14 75373785 75373785 C G RPS6KL1 Nonsynonymous SNV G296R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 140653 chr14 93408097 93408097 C T rs765831049 ITPK1 Nonsynonymous SNV E233K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.5 140654 chr17 38340474 38340474 G A rs748758477 RAPGEFL1 Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 140655 chr14 104638230 104638230 G T KIF26A Nonsynonymous SNV K428N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.2 140656 chr3 128181772 128181772 C A rs141309633 DNAJB8 Nonsynonymous SNV G106V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 140657 chr14 77493831 77493839 GCGGCGGCG - IRF2BPL A100_A102del 0.001 0 0 0 1 0 0 0 0 0 0 0 140658 chr15 68466083 68466083 G A rs770873570 PIAS1 Nonsynonymous SNV R341Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 140659 chr3 130290069 130290069 C T rs111457392 COL6A6 Nonsynonymous SNV R937W 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Uncertain significance 29.2 140660 chr14 81251406 81251406 T G rs144670267 CEP128 Nonsynonymous SNV I682L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 140661 chr3 130290053 130290053 C G rs766736632 COL6A6 Synonymous SNV A931A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.86 140662 chr2 175006700 175006700 G A rs61737496 OLA1 Synonymous SNV H134H 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 6.69 140663 chr20 44596260 44596260 - GCG rs773088833 ZNF335 A279_G280insA 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 140664 chr15 101529574 101529574 C A rs780846312 LRRK1 Nonsynonymous SNV P245T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.928 140665 chr15 72690680 72690680 G A rs141553031 TMEM202 Nonsynonymous SNV E5K 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 9.175 140666 chr15 73660442 73660442 G A HCN4 Nonsynonymous SNV S57F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.53 140667 chr15 73660154 73660154 T C rs560874115 HCN4 Nonsynonymous SNV E153G 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.119 140668 chr15 73996729 73996729 G A rs62641691 CD276 Nonsynonymous SNV V211M 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 16.34 140669 chr15 75043539 75043539 C T rs45468096 CYP1A2 Nonsynonymous SNV R281W 0.011 0.01 0 6 13 4 0.015 0 0 0 0 0 Likely benign 34 140670 chr3 138341106 138341106 C T rs758050797 FAIM Nonsynonymous SNV A63V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 140671 chr3 140401629 140401629 G A TRIM42 Nonsynonymous SNV G223S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 140672 chr15 31318422 31318422 C G rs182549235 TRPM1 Nonsynonymous SNV Q1200H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 140673 chr17 39884047 39884047 C T rs782606075 HAP1 Synonymous SNV S446S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.48 140674 chr14 95934253 95934253 G A rs148002580 SYNE3 Nonsynonymous SNV R66W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 140675 chr3 148763888 148763888 T C HLTF Nonsynonymous SNV E683G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 140676 chr15 100230605 100230605 C T rs121918529 MEF2A Nonsynonymous SNV P209L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Pathogenic 33 140677 chr3 151451836 151451836 G A AADACL2 Nonsynonymous SNV A5T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 140678 chr15 84228056 84228056 T C rs749284676 SH3GL3 Nonsynonymous SNV F33L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 140679 chr3 156234084 156234084 A C rs749474415 KCNAB1 Synonymous SNV P268P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.089 140680 chr3 156395672 156395672 T G rs9883478 TIPARP Synonymous SNV T62T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.03 140681 chr20 60808595 60808595 G A LOC105369209 0 0 0.003 0 0 0 0 1 0 0 0 0 5.481 140682 chr3 170108126 170108126 G A rs375044899 SKIL Synonymous SNV P469P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.595 140683 chr20 60898634 60898634 A T LAMA5 Nonsynonymous SNV F1981Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 140684 chr3 165548386 165548386 - C rs774072493 BCHE Frameshift insertion F146Vfs*12 0 0.008 0 1 0 3 0.003 0 0 0 0 0 140685 chr3 165548387 165548387 A T rs71534242 BCHE Synonymous SNV G145G 0 0.008 0 1 0 3 0.003 0 0 0 0 0 Uncertain significance 0.003 140686 chr20 60921797 60921797 G A rs41284992 LAMA5 Nonsynonymous SNV R378C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 24.5 140687 chr14 23994005 23994005 C G rs1019582795 ZFHX2 Nonsynonymous SNV E1716Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22 140688 chr3 170802911 170802911 G A rs368574578 TNIK Synonymous SNV A906A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.004 140689 chr15 89173378 89173379 GG - AEN E277Dfs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 140690 chr15 89173381 89173383 CCG - AEN R279del 0 0.003 0 0 0 1 0 0 0 0 0 0 140691 chr15 89173385 89173385 A T AEN Nonsynonymous SNV S280C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 140692 chr2 197596800 197596800 G A CCDC150 Nonsynonymous SNV R381K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 140693 chr4 115754866 115754866 T C rs115482611 NDST4 Synonymous SNV L764L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.488 140694 chr4 120192592 120192592 G A USP53 Nonsynonymous SNV R475Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 140695 chr3 183696367 183696367 G C ABCC5 Nonsynonymous SNV P407R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 140696 chr14 25043643 25043643 C T rs759496539 CTSG Synonymous SNV E134E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.19 140697 chr3 182804567 182804567 C T MCCC1 Nonsynonymous SNV A95T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 140698 chr20 633815 633815 T C rs11905119 SRXN1 Synonymous SNV A5A 0.002 0 0.017 0 2 0 0 5 0 0 0 0 0.283 140699 chr14 39650261 39650261 A G rs145827544 PNN Nonsynonymous SNV S450G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 140700 chr3 185245360 185245360 T C LIPH Synonymous SNV A180A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.32 140701 chr17 4848240 4848240 C T RNF167 Nonsynonymous SNV P293S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 140702 chr4 140811837 140811837 C T MAML3 Synonymous SNV E251E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.569 140703 chr4 147795921 147795921 T G rs767010316 TTC29 Nonsynonymous SNV E249A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 140704 chr16 10524713 10524713 C G rs762048546 ATF7IP2 Nonsynonymous SNV S79C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 140705 chr21 33371167 33371167 C T rs141071061 HUNK Synonymous SNV S605S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 140706 chr21 33709748 33709748 A G URB1 Nonsynonymous SNV L1529P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 140707 chr16 1252442 1252442 C T rs764559629 CACNA1H Synonymous SNV V664V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.22 140708 chr21 34120831 34120831 G A rs143526654 PAXBP1 Synonymous SNV L634L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.058 140709 chr21 34922774 34922806 GTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCA - rs745916896 SON L420_P430del 0 0 0.003 0 0 0 0 1 0 0 0 0 140710 chr15 49867217 49867217 A G rs148545628 FAM227B Synonymous SNV H212H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.708 140711 chr21 37742028 37742028 A G MORC3 Nonsynonymous SNV S717G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.465 140712 chr3 195965621 195965621 G A rs369326424 PCYT1A Nonsynonymous SNV P348S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.2 140713 chr4 861170 861170 C T rs28640071 GAK Nonsynonymous SNV E737K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.034 140714 chr4 951681 951681 T C rs6854241 TMEM175 Synonymous SNV S222S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 140715 chr3 196434443 196434443 T C rs142469317 CEP19 Synonymous SNV T157T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 1.194 140716 chr16 1569916 1569916 T C IFT140 Nonsynonymous SNV M1336V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.94 140717 chr4 985321 985321 C T rs35019459 SLC26A1 Synonymous SNV T57T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.91 140718 chr16 17202625 17202625 G A rs768752782 XYLT1 Nonsynonymous SNV T936M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 140719 chr15 59368360 59368360 C A RNF111 Nonsynonymous SNV Q632K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 140720 chr21 40984291 40984291 A T B3GALT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 140721 chr15 63855101 63855101 G A rs757028396 USP3 Nonsynonymous SNV V175I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 140722 chr4 1303499 1303499 C T rs116098348 MAEA Nonsynonymous SNV P22L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 5.757 140723 chr21 42749081 42749081 T C rs56680307 MX2 Nonsynonymous SNV M83T 0.003 0 0.01 0 4 0 0 3 0 0 0 0 0.02 140724 chr4 843536 843536 G A rs55904229 GAK Synonymous SNV H1208H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 3.611 140725 chr16 19485585 19485585 G A rs201085859 TMC5 Nonsynonymous SNV V447I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.035 140726 chr2 223066885 223066885 C T rs752573217 PAX3 Nonsynonymous SNV G399S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 140727 chr16 2024638 2024638 G A TBL3 Nonsynonymous SNV A113T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.5 140728 chr16 2028438 2028438 G C rs754584422 TBL3 Synonymous SNV V753V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.036 140729 chr2 227729790 227729790 C T rs750293564 RHBDD1 Synonymous SNV A127A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 140730 chr4 2461863 2461863 C T rs866605210 CFAP99 Nonsynonymous SNV R519W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 140731 chr4 2940980 2940980 G A rs113489274 NOP14 Synonymous SNV A803A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 140732 chr15 68649541 68649541 C T ITGA11 Nonsynonymous SNV E233K 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 24.4 140733 chr15 69327727 69327727 C T rs141772528 NOX5 Nonsynonymous SNV R269W 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 32 140734 chr14 75139801 75139801 G A rs202071581 AREL1 Nonsynonymous SNV R427C 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 33 140735 chr21 45540353 45540353 C G rs148867930 LOC102724159, PWP2 Nonsynonymous SNV T438S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 140736 chr4 3444466 3444466 C T rs751880011 HGFAC Nonsynonymous SNV T42M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 140737 chr4 3495220 3495220 C A rs184556570 DOK7 Nonsynonymous SNV P193T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Likely benign 24.1 140738 chr16 21728261 21728261 G A rs150415498 OTOA Nonsynonymous SNV V184M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 12.94 140739 chr4 4864582 4864582 G T rs369820958 MSX1 Synonymous SNV S208S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.589 140740 chr4 5990543 5990543 C G rs181795298 C4orf50 Nonsynonymous SNV G898A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 140741 chr17 7125341 7125341 T A rs77763289 ACADVL Synonymous SNV S209S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign/Likely benign 7.889 140742 chr5 5303788 5303788 C T rs199747658 ADAMTS16 Nonsynonymous SNV S1032F 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 9.679 140743 chr17 7192869 7192886 GGGGGCCAGGGGCCTGCT - rs533432910 YBX2 Q336_P341del 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 140744 chr15 71184373 71184373 C T rs200277721 THAP10 Nonsynonymous SNV R80K 0.003 0 0 0 3 0 0 0 0 0 0 0 14.56 140745 chr17 7220841 7220841 T G rs75583706 NEURL4 Synonymous SNV A1417A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 5.161 140746 chr16 2481225 2481225 A G rs151217933 CCNF Synonymous SNV E37E 0.002 0.003 0.007 0 2 1 0 2 1 0 0 0 Benign 8.52 140747 chr16 2523092 2523092 G A rs147989868 NTN3 Synonymous SNV A408A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.878 140748 chr15 75499746 75499746 C T C15orf39 Nonsynonymous SNV R453W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 20.5 140749 chr16 27445755 27445755 C T rs137946070 IL21R Nonsynonymous SNV T46M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.868 140750 chr15 75650861 75650861 C T MAN2C1 Nonsynonymous SNV R683Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.12 140751 chr16 2849468 2849468 A G rs192768989 PRSS41 Nonsynonymous SNV N160D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 5.005 140752 chr16 2870961 2870961 C T rs145458572 PRSS21 Nonsynonymous SNV P186S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.8 140753 chr14 91739231 91739231 T C rs1022329737 CCDC88C Nonsynonymous SNV K1942R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 140754 chr4 8237257 8237257 G A rs759986656 SH3TC1 Nonsynonymous SNV R1051Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 140755 chr2 239006891 239006891 G A rs35544137 SCLY Synonymous SNV R411R 0.002 0.005 0.017 3 2 2 0.008 5 0 0 0 0 Benign 8.927 140756 chr22 19470299 19470299 G A CDC45 Synonymous SNV V97V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 140757 chr22 19882692 19882692 G A rs529169039 TXNRD2 Synonymous SNV T327T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.605 140758 chr14 93154540 93154540 C T rs71461983 RIN3 Synonymous SNV G892G 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 16.9 140759 chr15 81611792 81611792 C T rs147049158 STARD5 Synonymous SNV L96L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.35 140760 chr16 3170269 3170269 G A rs534980591 ZNF205 Synonymous SNV L536L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.172 140761 chr16 3170270 3170270 A T rs547382100 ZNF205 Nonsynonymous SNV M537L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.96 140762 chr22 21363649 21363649 G A rs555240192 THAP7-AS1, TUBA3FP 0 0 0.003 0 0 0 0 1 0 0 0 0 1.36 140763 chr22 21363839 21363839 - AG rs555183291 THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 140764 chr16 30767956 30767956 G A rs772842581 PHKG2 Nonsynonymous SNV E283K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.66 140765 chr4 17586734 17586734 A G rs141415330 LAP3 Nonsynonymous SNV S227G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.611 140766 chr4 36134874 36134874 C T rs750567667 ARAP2 Nonsynonymous SNV S1134N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 140767 chr22 22869456 22869456 G A rs201542170 ZNF280A Stop gain R167X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 31 140768 chr15 83357913 83357913 T G AP3B2 Synonymous SNV I87I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 140769 chr16 3487431 3487431 G C rs202056080 ZNF597 Nonsynonymous SNV P90A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 140770 chr4 24896662 24896662 G A rs558436527 CCDC149 Synonymous SNV V5V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.418 140771 chr17 74533546 74533546 C G CYGB Nonsynonymous SNV V27L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 140772 chr22 24718630 24718630 C T rs200713959 SPECC1L Nonsynonymous SNV T561M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 140773 chr16 3708192 3708192 C T rs61756352 TRAP1 Nonsynonymous SNV D632N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 29.6 140774 chr22 26872985 26872985 T C rs149830675 HPS4 Nonsynonymous SNV I79V 0.004 0.018 0.014 6 5 7 0.015 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 140775 chr22 28379262 28379262 T A rs77293143 TTC28 Synonymous SNV S2131S 0.008 0 0.01 3 9 0 0.008 3 0 0 0 0 4.22 140776 chr22 30768335 30768335 C A rs542248588 KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 8.455 140777 chr16 50744850 50744850 T C rs369732140 NOD2 Nonsynonymous SNV L316P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.8 140778 chr16 50745211 50745211 C T rs200656015 NOD2 Synonymous SNV P436P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 4.748 140779 chr4 47408742 47408742 C T rs80178222 GABRB1 Synonymous SNV L293L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 11.87 140780 chr4 47537546 47537546 G A rs146578598 ATP10D Nonsynonymous SNV R266H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 140781 chr16 48149437 48149437 C T ABCC12 Synonymous SNV L626L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.401 140782 chr22 31284933 31284933 A G rs5753375 LOC107985544 0 0 0.051 0 0 0 0 15 0 0 0 0 1.395 140783 chr15 90785209 90785209 G A rs540870062 GDPGP1 Nonsynonymous SNV A357T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 13.99 140784 chr15 34140564 34140564 G A rs533061407 RYR3 Nonsynonymous SNV E4519K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 140785 chr16 53495681 53495681 A G rs61747628 RBL2 Nonsynonymous SNV I459V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 19.92 140786 chr4 62936142 62936142 C T ADGRL3 Nonsynonymous SNV S1282L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 140787 chr16 57950041 57950041 G A rs192843629 CNGB1 Nonsynonymous SNV R731C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 34 140788 chr4 57976025 57976025 G T rs114701478 IGFBP7-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 9.858 140789 chr5 72286431 72286431 A G rs369569475 FCHO2 Synonymous SNV V109V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.095 140790 chr4 68619638 68619638 C T rs104893842 GNRHR Nonsynonymous SNV R139H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Pathogenic 34 140791 chr16 10788624 10788624 T C rs145995713 TEKT5 Nonsynonymous SNV Y36C 0.005 0 0 0 6 0 0 0 0 0 0 0 20.6 140792 chr4 71068047 71068047 G A rs775452261 ODAM 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 140793 chr16 57413660 57413660 C T rs62037084 CX3CL1 Nonsynonymous SNV A62V 0.007 0.016 0 2 8 6 0.005 0 0 0 0 0 Benign 23.5 140794 chr5 76708058 76708058 A G PDE8B Synonymous SNV K473K 0.003 0 0 0 4 0 0 0 0 0 0 0 11.03 140795 chr16 11066893 11066893 G A CLEC16A Nonsynonymous SNV D233N 0.003 0 0 0 3 0 0 0 0 0 0 0 31 140796 chr22 38484765 38484765 C T BAIAP2L2 Nonsynonymous SNV G370S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 140797 chr4 71691031 71691031 T C rs770591540 GRSF1 Nonsynonymous SNV K297E 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 140798 chr4 75938108 75938108 G A rs192705593 PARM1 Nonsynonymous SNV V173I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 140799 chr17 80400078 80400078 G A rs1048995251 HEXD Nonsynonymous SNV V335M 0.005 0 0 0 6 0 0 0 0 0 0 0 6.377 140800 chr4 76452174 76452174 A C rs144642753 THAP6 Nonsynonymous SNV H98P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 140801 chr5 79026434 79026434 G A rs35928567 CMYA5 Nonsynonymous SNV V616I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.97 140802 chr17 80828189 80828189 G A rs372560471 TBCD Nonsynonymous SNV V470M 0.002 0 0 0 2 0 0 0 0 0 0 0 25 140803 chr16 1394050 1394050 G A rs770815658 BAIAP3 Nonsynonymous SNV A436T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 140804 chr4 76452233 76452233 G A rs141771853 THAP6 Nonsynonymous SNV G118S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.01 140805 chr4 76517038 76517038 T C rs749268942 CDKL2 Nonsynonymous SNV I538V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 16.22 140806 chr22 42229092 42229092 G C rs41277471 SREBF2-AS1 0 0 0.031 0 0 0 0 9 0 0 1 0 15.3 140807 chr16 66977895 66977895 C T rs28382827 CES2 Synonymous SNV L549L 0.013 0.01 0.007 7 15 4 0.018 2 0 0 0 0 11.68 140808 chr16 67575421 67575421 T G rs146187104 RIPOR1 Nonsynonymous SNV V301G 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 25 140809 chr4 77476824 77476824 G A rs368445271 SHROOM3 Synonymous SNV V77V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.08 140810 chr4 79437135 79437135 G A rs376389651 FRAS1 Nonsynonymous SNV V3453I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 140811 chr16 67913509 67913509 C T rs117562635 EDC4 Synonymous SNV P551P 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 15.8 140812 chr22 43204801 43204801 A G rs73176813 ARFGAP3 Nonsynonymous SNV M387T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 140813 chr16 1274608 1274608 G A TPSG1 Stop gain Q23X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 140814 chr16 68112729 68112729 T C DUS2 Nonsynonymous SNV L406P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 140815 chr16 68215384 68215384 G A rs772345934 NFATC3 Nonsynonymous SNV R641Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.3 140816 chr4 80328641 80328641 C T rs200048190 GK2 Synonymous SNV E238E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.179 140817 chr22 44333145 44333145 C T rs116679026 PNPLA3 Synonymous SNV L324L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 12.97 140818 chr4 83748617 83748617 C T rs149931236 SEC31A Nonsynonymous SNV V913I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 140819 chr22 45312410 45312410 C T rs140879621 PHF21B Nonsynonymous SNV S93N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 140820 chr5 94830435 94830435 T C rs765703776 TTC37 Synonymous SNV E1251E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.18 140821 chr3 42244387 42244387 C - rs750600034 TRAK1 L556Sfs*19 0 0.01 0 1 0 4 0.003 0 0 0 0 0 140822 chr16 710092 710092 C T rs755071904 WDR90 Synonymous SNV R1073R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.064 140823 chr16 19552004 19552004 G A rs138732430 CCP110 Synonymous SNV K648K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 140824 chr16 82032734 82032736 AGA - rs530656738 SDR42E1 S388del 0.001 0 0 0 1 0 0 0 0 0 0 0 140825 chr22 46932748 46932748 G T CELSR1 Nonsynonymous SNV A107E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.779 140826 chr4 89627919 89627919 C T rs777523381 HERC3 Synonymous SNV S869S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 140827 chr4 103553436 103553436 G C MANBA Synonymous SNV A806A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.466 140828 chr4 104030126 104030126 A T CENPE Synonymous SNV A2494A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.211 140829 chr4 99300260 99300260 G A rs61758811 RAP1GDS1 Nonsynonymous SNV E153K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.47 140830 chr16 77468556 77468556 C G rs751818903 ADAMTS18 Nonsynonymous SNV A13P 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Uncertain significance 9.981 140831 chr5 112384791 112384791 T C rs200797844 MCC Nonsynonymous SNV K695R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.957 140832 chr22 50751926 50751926 C T rs373757895 DENND6B Synonymous SNV E432E 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 15.01 140833 chr5 112676220 112676220 T C rs141953753 MCC Nonsynonymous SNV N208S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 9.484 140834 chr22 50869692 50869692 G C rs55712763 PPP6R2 Nonsynonymous SNV E406Q 0.011 0.018 0.017 7 13 7 0.018 5 0 0 0 0 10.97 140835 chr4 110884429 110884429 G C EGF Synonymous SNV L429L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.591 140836 chr4 110904639 110904639 G A rs149396988 EGF Synonymous SNV V769V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 4.416 140837 chr16 24573399 24573399 G A rs142673953 RBBP6 Synonymous SNV P402P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.68 140838 chr16 87445672 87445672 G T rs139009476 ZCCHC14 Synonymous SNV G885G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 0.06 140839 chr4 119944695 119944695 C T rs369093612 SYNPO2 Synonymous SNV L72L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.56 140840 chr5 118835173 118835173 A G HSD17B4 Synonymous SNV G360G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 11.17 140841 chr4 108535506 108535506 G A rs374190069 PAPSS1 Nonsynonymous SNV R592C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 140842 chr3 47448214 47448214 G A rs147122610 PTPN23 Nonsynonymous SNV E135K 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 Benign 26.8 140843 chr16 28912073 28912073 G C rs141394193 ATP2A1 Nonsynonymous SNV E521Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 140844 chr16 88498905 88498905 A T ZNF469 Nonsynonymous SNV Q1676L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.018 140845 chr16 29706379 29706379 C T rs113148463 QPRT Synonymous SNV G136G 0.01 0.008 0.007 3 12 3 0.008 2 0 0 0 0 11.39 140846 chr4 110650806 110650806 C T rs757964332 PLA2G12A Nonsynonymous SNV D54N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 140847 chr16 3085663 3085663 C A LOC100128770 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.504 140848 chr5 126993392 126993392 C T CTXN3 Nonsynonymous SNV P60L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 140849 chr15 65684470 65684470 A T IGDCC4 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 140850 chr16 84088076 84088076 G A rs369203745 MBTPS1 Nonsynonymous SNV P1046L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.1 140851 chr4 118006047 118006047 A G rs776374534 TRAM1L1 Nonsynonymous SNV F168S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 140852 chr3 50334462 50334462 G A rs201512291 NAA80 Nonsynonymous SNV R145W 0.005 0.005 0 0 6 2 0 0 0 0 0 0 33 140853 chr4 125591546 125591546 G A rs777200845 ANKRD50 Synonymous SNV A783A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 140854 chr16 3558381 3558381 T C rs11554091 CLUAP1 Synonymous SNV L104L 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 13.7 140855 chr16 3558389 3558389 C T rs79133712 CLUAP1 Nonsynonymous SNV A107V 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 29.8 140856 chr4 148559788 148559788 T G PRMT9 Nonsynonymous SNV Q506H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 140857 chr4 148968198 148968198 A G ARHGAP10 Nonsynonymous SNV T675A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 140858 chr16 89347992 89347992 T C rs768889299 ANKRD11 Nonsynonymous SNV K1653R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 18.44 140859 chr16 85112578 85112578 C T KIAA0513 Synonymous SNV L291L 0.003 0.01 0 0 4 4 0 0 0 0 0 0 13.46 140860 chr16 85689982 85689982 - GAGCGCGAGCGC rs3833833 GSE1 E248_A249insRERE 0 0.003 0 1 0 1 0.003 0 0 0 0 0 140861 chr18 5891374 5891385 GCGGCGGCGGCC - rs753396480 TMEM200C A227_A230del 0.003 0 0.007 0 3 0 0 2 0 0 0 0 140862 chr4 141622682 141622682 G A rs150506921 TBC1D9 Synonymous SNV L73L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.954 140863 chr2 121685031 121685031 C G GLI2 Nonsynonymous SNV H81Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 140864 chr16 4731682 4731682 C T rs367993354 MGRN1 Synonymous SNV D399D 0.003 0 0 0 4 0 0 0 0 0 0 0 10.18 140865 chr16 88677712 88677712 - GCGA ZC3H18 Frameshift insertion E418Afs*40 0 0.003 0 0 0 1 0 0 0 0 0 0 140866 chr3 56807781 56807781 G A rs754603106 ARHGEF3 Nonsynonymous SNV P60S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.5 140867 chr4 156276982 156276982 C T rs762649412 MAP9 Synonymous SNV S392S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 140868 chr2 128044286 128044286 G A rs4150422 ERCC3 Synonymous SNV T445T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.54 140869 chr2 128044502 128044502 C T rs2228544 ERCC3 Synonymous SNV Q373Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.63 140870 chr2 128084377 128084377 A G rs191720020 MAP3K2 Synonymous SNV D161D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.012 140871 chr2 128367433 128367433 G A rs61741454 MYO7B Nonsynonymous SNV V1012I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.335 140872 chr2 128381717 128381717 G A rs2245408 MYO7B Nonsynonymous SNV R1264Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 140873 chr2 128381861 128381861 G A rs61743523 MYO7B Nonsynonymous SNV R1312Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 140874 chr2 128381889 128381889 C T rs61745600 MYO7B Synonymous SNV F1321F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 140875 chr3 64582647 64582647 G A rs150397612 ADAMTS9 Synonymous SNV G1318G 0 0.005 0 0 0 2 0 0 0 0 0 0 15.14 140876 chr16 4952527 4952527 A G rs202220598 PPL Synonymous SNV D106D 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 140877 chr16 88801363 88801363 C T rs371476657 PIEZO1 Nonsynonymous SNV V590M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.55 140878 chr16 50338439 50338439 G A rs373744375 ADCY7 Nonsynonymous SNV V513I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 140879 chr5 140711643 140711643 C T PCDHGA1 Synonymous SNV N464N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.861 140880 chr15 82444469 82444469 T C rs200845475 EFL1 Nonsynonymous SNV M725V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 9.849 140881 chr4 155505802 155505802 T C rs776352963 FGA Nonsynonymous SNV Y692C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 140882 chr16 53504785 53504785 A G rs147400059 RBL2 Nonsynonymous SNV D885G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 140883 chr16 53679580 53679580 G A rs767271797 RPGRIP1L Synonymous SNV V880V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.954 140884 chr4 169923279 169923279 G A rs200095550 CBR4 Nonsynonymous SNV R160C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 140885 chr4 170912918 170912918 C T rs376999753 MFAP3L Nonsynonymous SNV A178T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 140886 chr15 85400336 85400336 T C rs55727747 ALPK3 Synonymous SNV T991T 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign/Likely benign 0.451 140887 chr4 178256978 178256978 - A rs35737622 NEIL3 0.017 0.016 0.014 4 20 6 0.01 4 1 0 0 0 140888 chr5 141694213 141694213 T C rs78310959 SPRY4 Nonsynonymous SNV K154R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 140889 chr18 72914287 72914287 C A ZADH2 Nonsynonymous SNV G73V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 140890 chr18 74640058 74640058 C T rs199679414 ZNF236 Synonymous SNV I1530I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.24 140891 chr4 185724598 185724598 G A rs756815819 ACSL1 Nonsynonymous SNV T24I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 140892 chr4 174213290 174213290 C G rs1051627824 GALNT7 Nonsynonymous SNV L207V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.9 140893 chr16 57693415 57693415 G A rs772599432 ADGRG1 Synonymous SNV P464P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.94 140894 chr16 57741447 57741447 C T rs772920234 DRC7 Nonsynonymous SNV R247C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 140895 chr2 160092692 160092692 G A rs142209888 WDSUB1 Nonsynonymous SNV S305L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 140896 chr5 148407060 148407060 A C rs78120278 SH3TC2 Synonymous SNV A745A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.001 140897 chr17 11757743 11757743 G A rs139176958 DNAH9 Nonsynonymous SNV A3311T 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 8 140898 chr17 11757744 11757744 C A rs149935831 DNAH9 Nonsynonymous SNV A3311D 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 23 140899 chr4 184615779 184615779 G A rs781082721 TRAPPC11 Nonsynonymous SNV R844H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 140900 chr17 19552370 19552370 C T rs780433740 ALDH3A2 Nonsynonymous SNV A29V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 27.2 140901 chr16 66613600 66613600 C T rs142128901 CMTM2 Synonymous SNV D30D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 140902 chr16 67314790 67314790 C T rs149229558 PLEKHG4 Nonsynonymous SNV R120W 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 29.8 140903 chr17 1456384 1456384 G A rs191414079 PITPNA Synonymous SNV G37G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.23 140904 chr16 67876770 67876796 CAGCAGCAACAGCAGCAGCAGCAGCAA - rs745578392 THAP11 Q124_Q132del 0.001 0 0 0 1 0 0 0 0 0 0 0 140905 chr16 67911677 67911677 A G rs111231628 EDC4 Nonsynonymous SNV S275G 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 10.93 140906 chr19 10488926 10488926 C T rs55762744 TYK2 Nonsynonymous SNV A53T 0.009 0.01 0.02 1 10 4 0.003 6 0 0 0 0 Benign 25.1 140907 chr2 168105701 168105701 G A rs141843026 XIRP2 Nonsynonymous SNV G2378E 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Likely benign 0.002 140908 chr16 69353387 69353387 C T rs895566649 VPS4A Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 140909 chr16 70190739 70190739 G A rs375340611 PDPR Nonsynonymous SNV R766H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 140910 chr17 1657483 1657483 C T rs763161035 SERPINF2 Synonymous SNV G313G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.43 140911 chr16 70575609 70575611 GAA - SF3B3 E370del 0.002 0 0 0 2 0 0 0 0 0 0 0 140912 chr2 170336095 170336095 G A rs150931960 BBS5 Nonsynonymous SNV R11Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 140913 chr17 17697093 17697093 - CAGCAG RAI1 Q291_A292insQQ 0.003 0.016 0.003 1 4 6 0.003 1 0 0 0 0 140914 chr3 121342046 121342046 C G rs368217296 FBXO40 Nonsynonymous SNV S590R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.6 140915 chr16 11850150 11850150 C G rs139825983 ZC3H7A Nonsynonymous SNV Q835H 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 12.91 140916 chr19 12777497 12777497 C G rs199673719 MAN2B1 Nonsynonymous SNV A7P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.872 140917 chr19 12791010 12791010 G A rs757504468 DHPS Nonsynonymous SNV R71C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 140918 chr16 72831132 72831132 C A rs148334947 ZFHX3 Nonsynonymous SNV V903L 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 14.61 140919 chr16 72991712 72991723 GCCACCGCCGCC - rs779341897 ZFHX3 V777_A780del 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 140920 chr16 1256216 1256216 G A rs536557648 CACNA1H Nonsynonymous SNV V906M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.5 140921 chr3 123366125 123366125 A G rs763880352 MYLK Nonsynonymous SNV V1346A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 24 140922 chr16 75646491 75646491 G A rs117402310 ADAT1 Synonymous SNV H144H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 1.497 140923 chr16 81298254 81298254 C T rs147813781 BCO1 Nonsynonymous SNV R161C 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23.5 140924 chr5 35705881 35705881 C T rs200328258 SPEF2 Nonsynonymous SNV T879M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 140925 chr17 32953392 32953392 G A rs760483390 TMEM132E Nonsynonymous SNV R105Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 140926 chr16 1604859 1604859 G C rs749127490 TMEM204 Synonymous SNV L171L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 6.697 140927 chr19 1528043 1528043 T C PLK5 Synonymous SNV N37N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 140928 chr5 31526792 31526792 G A rs149389256 DROSHA Nonsynonymous SNV P83L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 24.6 140929 chr19 15512096 15512096 G A AKAP8L Synonymous SNV I166I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.72 140930 chr2 188348943 188348943 G A rs140515889 TFPI Nonsynonymous SNV P179L 0.003 0.008 0.01 1 3 3 0.003 3 0 0 0 0 0.006 140931 chr16 1822870 1822870 G A rs964306396 MRPS34 Nonsynonymous SNV S84F 0.001 0 0 4 1 0 0.01 0 0 0 0 0 29.1 140932 chr17 26817534 26817534 C A rs782192263 SLC13A2 Synonymous SNV I147I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 140933 chr2 192272843 192272843 A G MYO1B Synonymous SNV V795V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 140934 chr19 16265381 16265381 G T rs188868946 HSH2D Nonsynonymous SNV A168S 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 0.158 140935 chr5 54642841 54642841 G A MTREX Nonsynonymous SNV G370E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 140936 chr17 29205072 29205072 T C rs61745366 ATAD5 Nonsynonymous SNV F1324L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 29.9 140937 chr16 20337679 20337679 C T rs531475464 GP2 Synonymous SNV Q25Q 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 8.075 140938 chr19 16847476 16847476 T C rs117353506 NWD1 Nonsynonymous SNV I38T 0.006 0.016 0.01 5 7 6 0.013 3 0 0 0 0 0.012 140939 chr19 16855391 16855391 G A rs779827293 NWD1 Nonsynonymous SNV V120I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.023 140940 chr2 201488656 201488656 C T rs151132832 AOX1 Stop gain R692X 0 0 0.003 0 0 0 0 1 0 0 0 0 32 140941 chr5 37180152 37180152 C T rs763129992 CPLANE1 Nonsynonymous SNV E1902K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 140942 chr2 201721620 201721620 G A CLK1 Synonymous SNV P349P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 140943 chr16 87723270 87723270 C T rs754206759 JPH3 Nonsynonymous SNV P435L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 140944 chr3 137484005 137484005 G T SOX14 Nonsynonymous SNV A127S 0 0.008 0 2 0 3 0.005 0 0 0 0 0 15.65 140945 chr5 61877067 61877067 G A rs755973659 LRRC70 Nonsynonymous SNV R601Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 140946 chr16 2086440 2086440 G A rs760492388 SLC9A3R2 Nonsynonymous SNV R66H 0.001 0 0 4 1 0 0.01 0 0 0 0 0 26.6 140947 chr2 202514849 202514849 C T rs190854787 MPP4 Nonsynonymous SNV R474H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 140948 chr2 203817342 203817342 A G rs767279283 CARF Nonsynonymous SNV T35A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 140949 chr16 85838718 85838718 T C rs900925513 COX4I1 Nonsynonymous SNV I8T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.342 140950 chr6 2959446 2959446 C T rs140220538 SERPINB6 Nonsynonymous SNV V55I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 140951 chr16 21214549 21214549 A G ZP2 Synonymous SNV H332H 0.004 0 0 0 5 0 0 0 0 0 0 0 0.108 140952 chr16 86613302 86613316 CTCGGGATCCCCTTC - rs764026385 FOXL1 G326_L330del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 140953 chr2 206480493 206480493 A T rs372502220 PARD3B Nonsynonymous SNV T1123S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 140954 chr19 17476695 17476695 C G rs149362987 PLVAP Synonymous SNV A193A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.5 140955 chr19 17547622 17547622 C T rs28605805 TMEM221 Nonsynonymous SNV R174Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 140956 chr5 54518153 54518153 C T MCIDAS Nonsynonymous SNV G153R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 140957 chr5 55086464 55086464 A G rs751940265 DDX4 Synonymous SNV Q262Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.534 140958 chr17 3518700 3518700 C G SHPK Nonsynonymous SNV A319P 0 0.003 0 0 0 1 0 0 0 0 0 0 34 140959 chr19 17799002 17799002 G A rs150611021 UNC13A Synonymous SNV L3L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.38 140960 chr19 17837806 17837806 C A rs7252905 MAP1S Nonsynonymous SNV P512Q 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 25 140961 chr2 21255329 21255329 G C APOB Nonsynonymous SNV L417V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 140962 chr5 78373423 78373423 C T BHMT2 Nonsynonymous SNV H52Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.864 140963 chr2 217285119 217285119 C T rs2066513 SMARCAL1 Synonymous SNV A320A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 14.09 140964 chr16 30775522 30775522 G A rs141178194 RNF40 Synonymous SNV R155R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 9.004 140965 chr2 219227555 219227555 G A rs764364540 CATIP Nonsynonymous SNV R198Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 140966 chr5 71631682 71631682 T C rs770691619 PTCD2 Synonymous SNV Y94Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.219 140967 chr16 89599007 89599007 G C SPG7 Nonsynonymous SNV E429D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 140968 chr16 89777757 89777757 T C rs201577505 VPS9D1 Nonsynonymous SNV S271G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.068 140969 chr19 19674387 19674387 G A rs770188527 PBX4 Synonymous SNV D321D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.416 140970 chr2 220081375 220081375 A G rs751784110 ABCB6 Synonymous SNV I243I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.29 140971 chr5 80548643 80548643 A C rs112184173 CKMT2 Synonymous SNV G94G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.748 140972 chr16 31143881 31143881 C T rs779821583 PRSS8 Nonsynonymous SNV E192K 0.001 0 0 0 1 0 0 0 0 0 0 0 22 140973 chr17 38187821 38187821 G C MED24 Nonsynonymous SNV P333R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 140974 chr5 82400773 82400773 C G rs28383138 XRCC4 Nonsynonymous SNV S12C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 140975 chr16 89925730 89925730 C T rs139952968 SPIRE2 Nonsynonymous SNV A477V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.128 140976 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAG MYH3 T202_G203insWPPAEAQAQASALTLPSCQQEFCYEIKH 0.003 0 0 0 3 0 0 0 0 0 0 0 140977 chr16 31471223 31471223 - A ARMC5 Frameshift insertion T128Dfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 140978 chr5 82837855 82837855 C A rs16900532 VCAN Nonsynonymous SNV N2024K 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign 10.57 140979 chr5 82849319 82849319 C T rs16900564 VCAN Synonymous SNV H469H 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign 16.43 140980 chr5 76785377 76785377 T A WDR41 Synonymous SNV I24I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.17 140981 chr17 11650951 11650951 G A DNAH9 Nonsynonymous SNV V2160M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 140982 chr6 36040758 36040758 A G rs145610257 MAPK14 Synonymous SNV L138L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.373 140983 chr3 186943290 186943290 A G rs994643854 MASP1 Synonymous SNV H521H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.596 140984 chr17 14110489 14110489 C T rs113058506 COX10 Nonsynonymous SNV R431W 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.9 140985 chr19 33200162 33200162 C T rs11673618 NUDT19 Synonymous SNV Y262Y 0.008 0.016 0.01 4 9 6 0.01 3 0 0 0 0 9.791 140986 chr17 39550388 39550388 C T rs201101742 KRT31 Synonymous SNV A377A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.67 140987 chr17 17697541 17697541 C T rs34898721 RAI1 Synonymous SNV L427L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 9.469 140988 chr3 194061827 194061827 G A rs772002312 CPN2 Synonymous SNV T535T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.217 140989 chr2 232321816 232321816 A G NCL Synonymous SNV V489V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.989 140990 chr17 39728172 39728172 C T rs762726903 KRT9 Nonsynonymous SNV G25R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.63 140991 chr19 35524977 35524977 G A rs766204907 SCN1B Nonsynonymous SNV R261Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.618 140992 chr17 40262826 40262826 G A DHX58 Nonsynonymous SNV P159L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.06 140993 chr5 132432960 132432960 G A rs150305321 HSPA4 Synonymous SNV E637E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.74 140994 chr17 47924433 47924433 C G rs982837145 FLJ45513 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.746 140995 chr5 112824107 112824107 A G rs774003080 MCC Nonsynonymous SNV M2T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 140996 chr2 241452333 241452333 G A rs374308273 ANKMY1 Synonymous SNV I447I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.963 140997 chr16 626227 626227 G C rs75952679 PIGQ Synonymous SNV L305L 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign 0.407 140998 chr17 48432269 48432269 G A rs200767788 XYLT2 Nonsynonymous SNV V287M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.41 140999 chr16 632262 632262 C T rs144613953 PIGQ Nonsynonymous SNV R516C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.76 141000 chr17 48452607 48452607 G C rs146276559 EME1 Nonsynonymous SNV G13A 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 6.442 141001 chr4 1808659 1808659 G A rs56266857 FGFR3 Nonsynonymous SNV D646N 0.002 0.008 0.01 1 2 3 0.003 3 0 0 0 0 23.7 141002 chr17 42083581 42083581 C T rs767234782 NAGS Synonymous SNV G297G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 141003 chr17 42085058 42085058 C G rs147700427 NAGS Synonymous SNV S456S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 16.37 141004 chr5 121309979 121309982 AGTT - SRFBP1 K42Rfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 141005 chr5 121413629 121413629 G T LOX Nonsynonymous SNV L18I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 141006 chr17 42334874 42334874 G A rs780870252 SLC4A1 Synonymous SNV R490R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.164 141007 chr17 2279075 2279075 T G rs754623052 SGSM2 Nonsynonymous SNV L752W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.251 141008 chr16 68048238 68048238 C A DPEP2NB Nonsynonymous SNV G49C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.01 141009 chr19 37619955 37619955 A C rs146441524 ZNF420 Nonsynonymous SNV M617L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.029 141010 chr17 28651971 28651971 C T rs576120155 TMIGD1 Nonsynonymous SNV R168H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 141011 chr4 3319041 3319041 G A rs371704475 RGS12 Nonsynonymous SNV V382I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.11 141012 chr4 4322368 4322368 G A rs144446639 ZBTB49 Synonymous SNV G541G 0.005 0.005 0.01 4 6 2 0.01 3 0 0 0 0 9.106 141013 chr4 4419090 4419090 G A rs1036801486 NSG1 Synonymous SNV S162S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.25 141014 chr2 27353147 27353147 G A rs199861424 ABHD1 Nonsynonymous SNV R290H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 141015 chr16 712270 712270 C T rs148985409 WDR90 Nonsynonymous SNV R1362W 0.014 0.01 0.007 4 17 4 0.01 2 1 0 0 0 15.3 141016 chr5 137420230 137420230 G A rs748146775 WNT8A Nonsynonymous SNV S67N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.09 141017 chr5 137502223 137502223 A G rs200220622 BRD8 Synonymous SNV T286T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.265 141018 chr17 33747358 33747358 G T rs147654371 SLFN12 Nonsynonymous SNV T361K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 141019 chr5 138378394 138378394 G A rs115800498 SIL1 Nonsynonymous SNV T123I 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.88 141020 chr17 33289204 33289204 A G rs138219937 ZNF830 Nonsynonymous SNV N207D 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.001 141021 chr4 6607046 6607046 A G rs144650979 MAN2B2 Nonsynonymous SNV I551V 0.003 0.023 0.014 2 4 9 0.005 4 0 0 0 0 11.28 141022 chr17 59560321 59560321 T C rs775175284 TBX4 Nonsynonymous SNV V361A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 141023 chr17 33687294 33687294 T C rs780528484 SLFN11 Nonsynonymous SNV H389R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 141024 chr17 46937794 46937794 A G CALCOCO2 Nonsynonymous SNV Y334C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 141025 chr5 139189174 139189174 G A rs147071263 PSD2 Nonsynonymous SNV R50Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.111 141026 chr5 139905948 139905948 G A rs140393380 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV V1620V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.128 141027 chr16 74334999 74334999 T C rs150308557 PSMD7 Synonymous SNV H72H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 5.392 141028 chr16 74695203 74695203 C T rs151061145 RFWD3 Nonsynonymous SNV V49I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.821 141029 chr16 75269697 75269697 G A rs200836207 BCAR1 Nonsynonymous SNV P157L 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 23.4 141030 chr2 3341900 3341900 G A rs199777526 EIPR1 Synonymous SNV D49D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 141031 chr2 33567971 33567971 C T rs61751742 LTBP1 Nonsynonymous SNV S940F 0.005 0 0.027 1 6 0 0.003 8 0 0 0 0 Benign 34 141032 chr16 765863 765863 C T rs996999262 METRN Synonymous SNV A128A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.47 141033 chr17 63545766 63545766 C T rs730881404 AXIN2 Synonymous SNV R276R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 16.97 141034 chr5 149324192 149324192 C A PDE6A Synonymous SNV S15S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 141035 chr5 140202839 140202839 G T rs61730630 PCDHA5 Synonymous SNV L493L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.172 141036 chr17 64210599 64210599 G T rs150652035 APOH Synonymous SNV G318G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.332 141037 chr17 35880737 35880737 C G SYNRG Synonymous SNV S1021S 0.003 0 0 0 4 0 0 0 0 0 0 0 14.68 141038 chr17 4906131 4906131 G A rs368886383 KIF1C Synonymous SNV S238S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.49 141039 chr5 149997971 149997971 C T rs530718393 SYNPO Synonymous SNV S14S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.14 141040 chr2 44571084 44571084 T C rs138555092 PREPL Nonsynonymous SNV N139S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.66 141041 chr5 150682868 150682868 G A rs73280066 SLC36A3 Synonymous SNV D16D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.023 141042 chr17 36895099 36895099 T C rs201412419 PCGF2 Nonsynonymous SNV N111S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.16 141043 chr5 140784616 140784616 C T rs190786640 PCDHGA9 Synonymous SNV V699V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.2 141044 chr19 42546811 42546811 C T rs149090635 GRIK5 Nonsynonymous SNV E456K 0.003 0 0 0 4 0 0 0 0 0 0 0 21.5 141045 chr17 56274469 56274469 G A rs531762111 EPX Nonsynonymous SNV R324Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 141046 chr19 42909602 42909602 G A rs747830282 LIPE Nonsynonymous SNV S826L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 141047 chr17 7106786 7106786 C T rs201426589 DLG4 Synonymous SNV P94P 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 13.53 141048 chr17 71196139 71196139 C T rs117344829 COG1 Nonsynonymous SNV T350M 0.008 0.008 0 5 9 3 0.013 0 0 0 0 1 Benign/Likely benign 32 141049 chr5 154396644 154396644 A C rs758226551 KIF4B Synonymous SNV T1075T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 141050 chr17 58234013 58234013 C T rs200180434 CA4 Nonsynonymous SNV R69C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 141051 chr17 71233118 71233118 G A rs117209041 C17orf80 Synonymous SNV G499G 0.013 0.01 0 5 15 4 0.013 0 0 0 0 1 2.327 141052 chr5 156589848 156589848 C T rs35758261 FAM71B Synonymous SNV T476T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 11.78 141053 chr5 156590389 156590389 A G rs35827085 FAM71B Nonsynonymous SNV M296T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 0.144 141054 chr2 62733176 62733176 T C rs201641861 TMEM17 Nonsynonymous SNV N30S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 141055 chr17 71389805 71389805 G A rs373540507 SDK2 Synonymous SNV T1264T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.16 141056 chr4 40440516 40440516 T C rs772967013 RBM47 Nonsynonymous SNV N132S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.1 141057 chr5 159776507 159776507 C T rs150252952 C1QTNF2 Nonsynonymous SNV E176K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.4 141058 chr16 8729033 8729033 G T METTL22 Synonymous SNV R188R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 141059 chr2 71014835 71014835 C T rs779683613 FIGLA Synonymous SNV A110A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 141060 chr17 7256832 7256832 G C rs763057144 KCTD11 Nonsynonymous SNV V191L 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.26 141061 chr5 149011717 149011717 G A rs771743680 ARHGEF37 Nonsynonymous SNV R664Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.36 141062 chr17 39421830 39421830 C T rs764616144 KRTAP9-6 Synonymous SNV C67C 0.003 0 0 0 4 0 0 0 0 0 0 0 2.457 141063 chr5 149359938 149359938 C G rs114260147 SLC26A2 Nonsynonymous SNV S261C 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Uncertain significance 25.7 141064 chr4 47565676 47565676 T C ATP10D Nonsynonymous SNV I916T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.6 141065 chr5 149450073 149450073 G A CSF1R Synonymous SNV L382L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.439 141066 chr2 71783115 71783115 C - DYSF H679Tfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 141067 chr17 650419 650419 C A rs375010755 GEMIN4 Synonymous SNV A288A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.21 141068 chr2 73315510 73315510 G A rs772868278 RAB11FIP5 Synonymous SNV V412V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.475 141069 chr17 73262886 73262886 G A rs749177272 MIF4GD Nonsynonymous SNV R202W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 141070 chr5 172518329 172518331 GAG - rs768242468 CREBRF E390del 0.003 0 0 0 3 0 0 0 0 0 0 0 141071 chr17 65955758 65955758 - CCTCCAGCCCCTCCAGCCCCTCCAGCC rs139709271 BPTF P2684_P2685insAPPAPPAPP 0.007 0.01 0 3 8 4 0.008 0 0 0 0 0 141072 chr5 175815300 175815300 T C rs201019782 NOP16 Nonsynonymous SNV Q46R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.2 141073 chr5 175959394 175959394 C T rs145761813 RNF44 Nonsynonymous SNV G27D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 141074 chr4 57216201 57216201 A T AASDH Nonsynonymous SNV D87E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 21.5 141075 chr17 73754197 73754197 G A rs73997615 GALK1 Synonymous SNV G373G 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Benign/Likely benign 5.627 141076 chr17 73812919 73812919 C T rs58342122 UNK Synonymous SNV L344L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 14.45 141077 chr6 126176350 126176350 A G rs150585521 NCOA7 Nonsynonymous SNV I79V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.43 141078 chr17 74004579 74004579 C A rs776277179 EVPL Synonymous SNV T1591T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.237 141079 chr17 74078008 74078008 T C ZACN Nonsynonymous SNV I309T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 141080 chr17 40442008 40442008 A G STAT5A Nonsynonymous SNV I85V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 17.06 141081 chr17 6927131 6927131 A G rs377439241 BCL6B Synonymous SNV Q47Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.6 141082 chr17 6978758 6978758 C T rs767775644 CLEC10A Nonsynonymous SNV A208T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.418 141083 chr17 74272796 74272796 A G QRICH2 Nonsynonymous SNV M1607T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 141084 chr17 40263425 40263425 G A rs142447445 DHX58 Nonsynonymous SNV R87C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 141085 chr17 40327741 40327741 G A rs143129288 KCNH4 Synonymous SNV N281N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.991 141086 chr19 46375620 46375620 G A rs147847262 FOXA3 Synonymous SNV P119P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.597 141087 chr17 40831861 40831861 G T rs375776467 CCR10 Nonsynonymous SNV L267M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 141088 chr3 10016159 10016159 C T rs144799805 EMC3 Synonymous SNV L107L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 141089 chr17 41343460 41343460 G A rs115552058 NBR1 Nonsynonymous SNV R291H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 28.4 141090 chr5 179227545 179227545 G T rs148327471 MGAT4B Nonsynonymous SNV H235N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.44 141091 chr3 101484162 101484162 A G CEP97 Nonsynonymous SNV T730A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.082 141092 chr17 42284672 42284672 A T rs750556487 UBTF Nonsynonymous SNV S708T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.55 141093 chr5 180047639 180047639 G A rs140668517 FLT4 Synonymous SNV L792L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.997 141094 chr5 168138060 168138060 C T rs141936653 SLIT3 Synonymous SNV A853A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.53 141095 chr6 146264742 146264742 A C rs77799196 SHPRH Nonsynonymous SNV F592C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.498 141096 chr17 1372861 1372861 T G rs61753652 MYO1C Nonsynonymous SNV K858N 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 Benign/Likely benign 23.1 141097 chr17 44845778 44845778 G C rs774595709 WNT3 Nonsynonymous SNV R326G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.8 141098 chr17 76528699 76528699 G C rs767946081 DNAH17 Synonymous SNV L993L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.077 141099 chr17 7661867 7661867 G A DNAH2 Synonymous SNV R702R 0.003 0 0 3 4 0 0.008 0 0 0 0 0 8.923 141100 chr3 112992006 112992006 C T rs556070204 BOC Nonsynonymous SNV P351L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 141101 chr3 113010415 113010415 C T rs549546748 CFAP44 Nonsynonymous SNV A1852T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 141102 chr17 4607238 4607238 G C rs200159543 PELP1 Nonsynonymous SNV H57D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 141103 chr3 113323772 113323772 T C rs73857003 SIDT1 Synonymous SNV I389I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.094 141104 chr17 7793948 7793948 G A CHD3 Synonymous SNV G150G 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 10.86 141105 chr17 78063947 78063947 - C CCDC40 Frameshift insertion R948Tfs*146 0.001 0 0 0 1 0 0 0 0 0 0 0 141106 chr17 7814876 7814876 C T rs376604597 CHD3 Synonymous SNV A1958A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 17.6 141107 chr17 17394616 17394616 T G MED9 Nonsynonymous SNV V83G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 141108 chr17 47810045 47810045 C T FAM117A Synonymous SNV V78V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.34 141109 chr17 76118776 76118776 G A rs747182769 TMC6 Synonymous SNV H379H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.05 141110 chr6 24505189 24505189 C T rs934316238 ALDH5A1 Synonymous SNV P234P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 141111 chr17 56429556 56429556 A G TSPOAP1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 141112 chr6 4716019 4716019 T A CDYL Nonsynonymous SNV F3I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.17 141113 chr4 123165015 123165015 G A rs141453932 KIAA1109 Synonymous SNV P1583P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.811 141114 chr17 78327326 78327326 C T rs148139681 RNF213 Nonsynonymous SNV R3480W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 1.291 141115 chr17 2601624 2601624 G C rs199601806 CLUH Synonymous SNV G509G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.549 141116 chr6 13316805 13316805 A G rs482227 TBC1D7, TBC1D7-LOC100130357 Synonymous SNV L146L 0.007 0.003 0.01 6 8 1 0.015 3 0 0 0 0 11.7 141117 chr17 27020746 27020746 A C rs751229533 SUPT6H Synonymous SNV P1222P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.285 141118 chr17 62492591 62492591 G C rs370683331 POLG2 Nonsynonymous SNV Q166E 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.693 141119 chr3 130329508 130329508 G T rs71333673 COL6A6 Nonsynonymous SNV A1590S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 0.634 141120 chr6 21595980 21595980 G C rs147615017 SOX4 Synonymous SNV L405L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 9.471 141121 chr19 52825603 52825603 G T ZNF480 Nonsynonymous SNV G324V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 141122 chr19 52919878 52919878 C T rs762973740 ZNF528 Synonymous SNV S591S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 141123 chr17 3020574 3020574 G C rs867411764 OR1E3 Synonymous SNV L227L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.059 141124 chr6 37247185 37247185 C T rs11548070 TBC1D22B Synonymous SNV G73G 0.003 0 0 0 3 0 0 0 1 0 0 0 15.24 141125 chr17 33269554 33269554 C T rs200240575 CCT6B Synonymous SNV K241K 0.005 0.005 0 0 6 2 0 0 0 0 0 0 11.72 141126 chr17 33324835 33324835 G A rs767753043 LIG3 Synonymous SNV K634K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.62 141127 chr19 53384768 53384768 A G rs144964547 ZNF320 Nonsynonymous SNV L204P 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 23.6 141128 chr3 14106590 14106590 C T rs184818003 TPRXL 0 0 0.007 0 0 0 0 2 0 0 0 0 2.338 141129 chr18 28935124 28935124 G A rs145472309 DSG1 Nonsynonymous SNV G989S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.15 141130 chr17 68128923 68128923 C T rs145663054 KCNJ16 Nonsynonymous SNV T267M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 141131 chr3 142285014 142285014 G A rs147353060 ATR Nonsynonymous SNV L81F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 141132 chr19 53855769 53855769 A C ZNF845 Nonsynonymous SNV K614T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.6 141133 chr3 148596462 148596462 A C rs146235151 CPA3 Nonsynonymous SNV D134A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.394 141134 chr4 164436558 164436558 C T rs373425152 TMA16 Synonymous SNV T111T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.73 141135 chr18 31803009 31803009 A G NOL4 Nonsynonymous SNV V70A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 141136 chr18 335071 335071 C T rs1001323032 COLEC12 Nonsynonymous SNV R496H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.6 141137 chr6 42689808 42689808 C T rs773254206 PRPH2 Nonsynonymous SNV A89T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 141138 chr18 3729136 3729136 C T rs56234957 DLGAP1 Synonymous SNV T228T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.66 141139 chr18 20833709 20833709 C T rs573079087 CABLES1 Nonsynonymous SNV R524W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 141140 chr18 21199503 21199503 C A ANKRD29 Nonsynonymous SNV A207S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.41 141141 chr6 35438425 35438425 C T rs761555516 RPL10A Synonymous SNV H184H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 141142 chr17 3848008 3848008 T C rs144329080 ATP2A3 Nonsynonymous SNV D426G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.2 141143 chr6 43333084 43333084 C T rs777932522 ZNF318 Nonsynonymous SNV R165Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 141144 chr17 72952043 72952043 A - HID1 Y494Tfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 141145 chr17 7329826 7329826 A T rs202160289 SPEM2 Synonymous SNV R172R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.021 141146 chr6 37452917 37452917 C G rs773457760 CCDC167 Synonymous SNV V32V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.25 141147 chr17 73744976 73744976 G - ITGB4 E1056Sfs*4 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 141148 chr3 171338215 171338215 T C PLD1 Nonsynonymous SNV S859G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 141149 chr3 171394560 171394560 C T rs757001152 PLD1 Nonsynonymous SNV G649E 0 0 0.003 0 0 0 0 1 0 0 0 0 34 141150 chr6 47846116 47846116 G A rs773331588 PTCHD4 Nonsynonymous SNV R822C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 141151 chr5 163038 163038 C T rs147149943 PLEKHG4B Nonsynonymous SNV R951W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 141152 chr6 42643820 42643820 G T rs146539040 UBR2 Synonymous SNV A1426A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.98 141153 chr6 42984949 42984949 C T rs754662954 KLHDC3 Nonsynonymous SNV H7Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 26 141154 chr17 3981265 3981265 G A rs138143591 ZZEF1 Synonymous SNV V967V 0.005 0 0 0 6 0 0 0 0 0 0 0 11.39 141155 chr6 43193784 43193784 C T rs116085576 DNPH1 Synonymous SNV P121P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.29 141156 chr6 43305008 43305008 G A rs76571554 ZNF318 Nonsynonymous SNV S2243F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.09 141157 chr6 43582226 43582226 A G rs199562456 POLH Nonsynonymous SNV T568A 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 0.006 141158 chr17 74922744 74922744 C T rs140999399 MGAT5B Nonsynonymous SNV T419M 0.009 0 0 2 11 0 0.005 0 0 0 0 0 26.6 141159 chr18 47500836 47500836 G A rs11082795 MYO5B Synonymous SNV N402N 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Benign 9.005 141160 chr6 44114632 44114632 C T rs145793813 TMEM63B Synonymous SNV N277N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.93 141161 chr6 44140082 44140082 C T rs187597064 CAPN11 Synonymous SNV C151C 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Benign 13.11 141162 chr17 4060193 4060193 C T rs145426034 CYB5D2 Synonymous SNV P92P 0.006 0 0 0 7 0 0 0 0 0 0 0 15.39 141163 chr3 186272719 186272719 G A rs192772134 TBCCD1 Synonymous SNV N242N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.171 141164 chr18 641370 641370 G A rs552635699 CLUL1 Synonymous SNV A346A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.3 141165 chr6 45909349 45909349 G T rs143360018 CLIC5 Nonsynonymous SNV A273E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 28.2 141166 chr19 57839567 57839567 T G ZNF543 Nonsynonymous SNV L246R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.43 141167 chr5 14601189 14601189 C T rs76754467 OTULINL Synonymous SNV C60C 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 10.27 141168 chr5 14751183 14751183 G A rs143039581 ANKH Synonymous SNV L228L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 10.22 141169 chr6 47976383 47976383 C A rs181953299 PTCHD4 Synonymous SNV P298P 0.005 0.013 0.01 3 6 5 0.008 3 1 0 0 0 19.45 141170 chr5 33662102 33662102 C - ADAMTS12 S320Tfs*75 0.003 0.008 0 0 3 3 0 0 0 0 0 0 141171 chr7 55249057 55249057 C T rs148188503 EGFR Synonymous SNV T518T 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Likely benign 17.22 141172 chr18 59774081 59774081 C T rs527249979 PIGN Nonsynonymous SNV A570T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 141173 chr17 79164871 79164871 G T rs200586905 CEP131 Synonymous SNV R891R 0.003 0 0 0 4 0 0 0 0 0 0 0 13.41 141174 chr17 4442828 4442828 G C rs778995367 MYBBP1A Stop gain S1290X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 141175 chr3 195594260 195594260 G A rs772461175 TNK2 Nonsynonymous SNV A987V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 141176 chr19 58966854 58966854 G A ZNF324B Synonymous SNV E181E 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.321 141177 chr17 79899127 79899127 G A rs945067678 MYADML2 Nonsynonymous SNV S164L 0.003 0 0 0 4 0 0 0 0 0 0 0 25.5 141178 chr6 93969123 93969123 C T rs149602525 EPHA7 Nonsynonymous SNV A620T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 141179 chr17 80193953 80193953 C G rs117720229 SLC16A3 Synonymous SNV A23A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 13.27 141180 chr17 47007954 47007954 C T rs776913860 SNF8 Synonymous SNV G203G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 141181 chr3 25761036 25761036 C G NGLY1 Nonsynonymous SNV W609S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 141182 chr17 48156828 48156828 G A rs140827354 ITGA3 Synonymous SNV Q871Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.22 141183 chr17 8167249 8167249 C T rs764391468 PFAS Nonsynonymous SNV R596W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 141184 chr17 8172126 8172126 C T rs774615536 PFAS Stop gain R1220X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 40 141185 chr19 1058872 1058872 G A rs147558402 ABCA7 Nonsynonymous SNV R1778H 0.002 0 0 0 2 0 0 0 0 0 0 0 15.55 141186 chr3 37089131 37089131 A G rs63750449 MLH1 Nonsynonymous SNV K260R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.8 141187 chr6 80626328 80626328 A C rs763447580 ELOVL4 Nonsynonymous SNV D314E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.809 141188 chr17 80395065 80395065 G A rs202145402 HEXD Nonsynonymous SNV R150Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.205 141189 chr17 80402326 80402326 C T rs143814965 CYBC1 Nonsynonymous SNV R133H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.4 141190 chr19 11039923 11039923 G A rs774409982 TIMM29 Nonsynonymous SNV V110M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23 141191 chr6 84879058 84879058 G A rs138206646 CEP162 Nonsynonymous SNV R716W 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 35 141192 chr18 12094047 12094047 T G ANKRD62 Nonsynonymous SNV C11G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 141193 chr18 12686398 12686398 C T rs146808596 CEP76 Nonsynonymous SNV A254T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 23.8 141194 chr18 13666689 13666689 G A rs529431654 FAM210A Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 141195 chr3 39450231 39450231 G A rs190008375 RPSA 0 0 0.003 0 0 0 0 1 0 0 0 0 1.547 141196 chr18 21106723 21106723 T A rs748172492 RMC1 Nonsynonymous SNV S238T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 141197 chr3 39543599 39543599 C T rs138223556 MOBP Synonymous SNV S13S 0 0 0.003 0 0 0 0 1 0 0 0 0 14 141198 chr6 90398524 90398524 A T MDN1 Nonsynonymous SNV V3676D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 141199 chr6 121602737 121602737 T C rs201680026 TBC1D32 Nonsynonymous SNV I521V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.364 141200 chr18 22017928 22017928 C A rs552047808 IMPACT Synonymous SNV I97I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 141201 chr3 42567463 42567463 A G rs144670843 VIPR1 Nonsynonymous SNV T2A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.594 141202 chr19 10250826 10250826 C T rs890237711 DNMT1 Synonymous SNV E1218E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.35 141203 chr6 97711322 97711322 A C rs549054362 MMS22L Synonymous SNV V277V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.583 141204 chr7 100189420 100189420 C T rs144943566 FBXO24 Synonymous SNV Y139Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.322 141205 chr18 12277150 12277150 G A rs115278913 CIDEA Nonsynonymous SNV A181T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.68 141206 chr17 56603082 56603082 C T rs544250413 SEPTIN4 Nonsynonymous SNV R72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 141207 chr19 14196140 14196140 C T rs538457784 C19orf67 Synonymous SNV K100K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.52 141208 chr6 133092199 133092199 T C rs147717829 SLC18B1 Nonsynonymous SNV I410M 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 11.61 141209 chr5 77477467 77477467 T C AP3B1 Nonsynonymous SNV N220S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.63 141210 chr19 11350867 11350867 G A ANGPTL8 Synonymous SNV E118E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.013 141211 chr6 146126580 146126580 G A rs148771547 FBXO30 Nonsynonymous SNV S321L 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 0.272 141212 chr3 4730241 4730241 C T rs140402012 ITPR1 Synonymous SNV C1240C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.75 141213 chr3 49162037 49162037 A T rs149560677 LAMB2 Nonsynonymous SNV C1040S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 141214 chr18 44121861 44121861 G A LOXHD1 Nonsynonymous SNV A57V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.5 141215 chr6 119669683 119669683 T C rs143029484 MAN1A1 Nonsynonymous SNV E183G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.496 141216 chr19 1615375 1615375 T C rs149166972 TCF3 Synonymous SNV Q576Q 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 1.316 141217 chr7 100551308 100551308 A G rs745437211 MUC3A Nonsynonymous SNV E630G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.001 141218 chr19 12429546 12429546 A C rs750333223 ZNF563 Synonymous SNV S431S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.531 141219 chr7 100551309 100551309 G T rs771726092 MUC3A Nonsynonymous SNV E630D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 141220 chr7 100551312 100551313 TG - MUC3A A632Gfs*46 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 141221 chr6 123868506 123868506 C T rs192289289 TRDN Nonsynonymous SNV E135K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 24.3 141222 chr17 67267348 67267348 G A rs148120656 ABCA5 Synonymous SNV S949S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.406 141223 chr19 14042596 14042596 C T rs1001902239 PODNL1 Nonsynonymous SNV R567Q 0 0.005 0 0 0 2 0 0 0 0 0 0 9.16 141224 chr18 52896253 52896253 C T rs144068462 TCF4 Synonymous SNV E408E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 14.99 141225 chr5 94772571 94772571 - C rs373017124 FAM81B Frameshift insertion Q285Hfs*21 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 141226 chr5 94772576 94772576 G A rs201688877 FAM81B Nonsynonymous SNV D287N 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 23.3 141227 chr19 14584773 14584775 GAA - PTGER1 F120del 0 0.003 0 0 0 1 0 0 0 0 0 0 141228 chr3 52387202 52387202 G A rs77639782 DNAH1 Synonymous SNV S1037S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 10.93 141229 chr17 7139491 7139493 TCC - rs757243478 PHF23 E194del 0.001 0 0 0 1 0 0 0 0 0 0 0 141230 chr6 137519278 137519278 A C rs776280026 IFNGR1 Nonsynonymous SNV S454A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 141231 chr6 137524803 137524803 G T rs55881171 IFNGR1 Nonsynonymous SNV T189K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.002 141232 chr6 139488357 139488357 G A rs774114464 HECA Nonsynonymous SNV R403Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 141233 chr17 7245625 7245625 A G rs755458303 ACAP1 Nonsynonymous SNV N88S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.829 141234 chr18 55273918 55273918 T G rs138016359 NARS Nonsynonymous SNV D356A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 23 141235 chr18 61388118 61388118 C T rs34023430 SERPINB11 Synonymous SNV A49A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.715 141236 chr6 161015058 161015058 C T rs767165360 LPA Synonymous SNV R1187R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 141237 chr17 72948047 72948047 G A HID1 Synonymous SNV G752G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 141238 chr5 118485333 118485333 T C rs148450699 DMXL1 Nonsynonymous SNV S1271P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.81 141239 chr19 16612104 16612104 C T rs761780981 C19orf44 Synonymous SNV N167N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.234 141240 chr6 168479588 168479588 G A rs199611913 FRMD1 Nonsynonymous SNV R63W 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 23.1 141241 chr17 73658567 73658567 C T rs756078828 RECQL5 Nonsynonymous SNV D255N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.27 141242 chr6 157099402 157099402 - CAGCAG rs587779743 ARID1B Q131_H132insQQ 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 141243 chr1 117568500 117568500 G T rs12093834 CD101 Nonsynonymous SNV R933L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.979 141244 chr17 74936849 74936849 C T rs35895146 MGAT5B Synonymous SNV I598I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.14 141245 chr17 7579585 7579585 G C rs11575998 TP53 Synonymous SNV P34P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.133 141246 chr4 102269758 102269758 G A rs143954423 FLJ20021 0 0 0.02 0 0 0 0 6 0 0 0 0 15.06 141247 chr7 131194194 131194194 G A rs745919500 PODXL Nonsynonymous SNV P286L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 141248 chr18 76755194 76755194 A G SALL3 Nonsynonymous SNV H1068R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.63 141249 chr5 139930696 139930696 C T rs149499620 SRA1 Nonsynonymous SNV G122E 0 0.005 0 0 0 2 0 0 0 0 0 0 23.5 141250 chr17 76967731 76967731 G A rs371173977 LGALS3BP Nonsynonymous SNV P562L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 141251 chr1 1309442 1309442 G A rs757675445 AURKAIP1 Synonymous SNV L146L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.064 141252 chr6 161470221 161470221 G A rs142968561 MAP3K4 Nonsynonymous SNV G306E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.9 141253 chr19 18778457 18778457 G T rs142862187 KLHL26 Nonsynonymous SNV V113L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.972 141254 chr17 7722004 7722004 G A rs373338819 DNAH2 Nonsynonymous SNV R3527Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 141255 chr5 140562775 140562775 C T rs139379718 PCDHB16 Nonsynonymous SNV A214V 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 27.7 141256 chr5 140724164 140724164 G A rs199666918 PCDHGA3 Synonymous SNV G188G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.616 141257 chr5 140740918 140740918 A T rs200180237 PCDHGB2 Nonsynonymous SNV T406S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.7 141258 chr19 20230127 20230127 T G rs553943148 ZNF90 Nonsynonymous SNV I588M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 141259 chr19 10225189 10225189 C G rs146974153 P2RY11, PPAN-P2RY11 Stop gain Y300X 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 36 141260 chr7 21901535 21901535 G A rs554657293 DNAH11 Nonsynonymous SNV R3756H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 141261 chr1 151509241 151509241 G A CGN Synonymous SNV V1114V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 12.64 141262 chr6 170592431 170592431 C T DLL1 Nonsynonymous SNV D646N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.42 141263 chr19 12154687 12154687 T C rs761652379 ZNF878 Nonsynonymous SNV K510R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.49 141264 chr19 12155131 12155131 G A rs773274167 ZNF878 Nonsynonymous SNV T362I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 20.9 141265 chr7 26680336 26680336 T C LINC02860 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 141266 chr7 26680350 26680350 T C LINC02860 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 141267 chr19 23328751 23328751 - T rs529180941 ZNF730 Stop gain K303* 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 0 141268 chr4 126242118 126242118 T G FAT4 Nonsynonymous SNV L1518V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 141269 chr19 23329066 23329066 G A rs538045095 ZNF730 Nonsynonymous SNV R407H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.492 141270 chr7 27213122 27213122 T A rs768065073 HOXA10 Synonymous SNV R268R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.552 141271 chr4 140810665 140810676 TGCTGTTGCTGC - rs760135314 MAML3 Q647_Q650del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 141272 chr17 79865116 79865116 G T PCYT2 Synonymous SNV P185P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.23 141273 chr7 2748223 2748223 C T rs202039876 AMZ1 Synonymous SNV D158D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 141274 chr7 34125622 34125622 C T rs10249320 BMPER Nonsynonymous SNV R555W 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 34 141275 chr17 79974960 79974960 G C rs764223425 ASPSCR1 Nonsynonymous SNV G488A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 141276 chr17 79974962 79974964 AAG - rs767189813 ASPSCR1 K489del 0.001 0 0 0 1 0 0 0 0 0 0 0 141277 chr17 79974965 79974965 G T rs751642969 ASPSCR1 Nonsynonymous SNV V490L 0.001 0 0 0 1 0 0 0 0 0 0 0 28 141278 chr4 148601481 148601481 G C rs151270359 PRMT9 Nonsynonymous SNV L111V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 141279 chr17 80195157 80195157 C A SLC16A3 Nonsynonymous SNV Q171K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 141280 chr7 4874735 4874735 C T rs148761575 RADIL Nonsynonymous SNV D307N 0.01 0.005 0.003 1 12 2 0.003 1 2 0 0 0 1.608 141281 chr4 151502267 151502267 G A rs9993229 LOC729558 0 0 0.014 0 0 0 0 4 0 0 2 0 13.49 141282 chr7 5112054 5112054 C T RBAK-RBAKDN Synonymous SNV R100R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.14 141283 chr19 34981311 34981311 A G rs781203021 WTIP Nonsynonymous SNV Y233C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.8 141284 chr19 3752710 3752710 G A rs369816501 APBA3 Synonymous SNV L397L 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 9.284 141285 chr7 150938600 150938600 T C SMARCD3 Nonsynonymous SNV N306S 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 12.97 141286 chr7 6094197 6094197 C T EIF2AK1 Nonsynonymous SNV R86H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 141287 chr19 14857050 14857050 T C ADGRE2 Nonsynonymous SNV N668S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 141288 chr19 14866681 14866681 C T rs764173202 ADGRE2 Nonsynonymous SNV V401M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 141289 chr1 1564558 1564558 G T rs779715918 MIB2 Nonsynonymous SNV A800S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.66 141290 chr17 8110622 8110622 G A rs55716296 AURKB Synonymous SNV N49N 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 12.64 141291 chr7 44105093 44105093 G A rs369660945 PGAM2 Synonymous SNV G12G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.17 141292 chr4 15981022 15981022 T C rs747844753 PROM1 Nonsynonymous SNV T851A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.52 141293 chr19 16640581 16640583 TGC - rs762824932 CHERP Q341del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 141294 chr19 36206166 36206166 C T rs747345289 ZBTB32 Nonsynonymous SNV T213M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 141295 chr4 166405672 166405672 C T rs202048102 CPE Nonsynonymous SNV R297W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 141296 chr19 15852564 15852564 A G rs114904510 OR10H3 Nonsynonymous SNV Y121C 0.005 0 0.003 0 6 0 0 1 0 0 0 0 23.2 141297 chr8 2057202 2057202 G A rs757666115 MYOM2 Synonymous SNV S1020S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 141298 chr19 16339725 16339725 A G rs773324732 AP1M1 Nonsynonymous SNV I345V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 141299 chr18 19154657 19154657 T C rs572229499 ESCO1 Nonsynonymous SNV K50E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 141300 chr19 40541706 40541706 T C rs547157971 ZNF780B Nonsynonymous SNV I354V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.004 141301 chr19 17056416 17056416 G A rs1040143274 CPAMD8 Synonymous SNV H912H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.395 141302 chr5 176026772 176026772 G T GPRIN1 Nonsynonymous SNV P22T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.038 141303 chr18 24442351 24442351 A C rs754458451 AQP4 Nonsynonymous SNV I59S 0.003 0 0 0 3 0 0 0 0 0 0 0 27 141304 chr5 176793795 176793795 C T rs772279937 RGS14 Synonymous SNV T111T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.48 141305 chr19 17362489 17362489 C T rs142828605 USHBP1 Synonymous SNV L544L 0.006 0 0.007 0 7 0 0 2 0 0 0 0 8.677 141306 chr7 26411588 26411588 T C rs147949979 SNX10 Synonymous SNV N69N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.455 141307 chr4 186065974 186065974 T C rs150481751 SLC25A4 Synonymous SNV D56D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.469 141308 chr1 161681180 161681180 G A rs745591681 FCRLA Nonsynonymous SNV G139R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 33 141309 chr19 17892318 17892318 C T rs750450448 FCHO1 Nonsynonymous SNV R550W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 141310 chr18 32455280 32455280 G A rs9959365 DTNA Synonymous SNV A270A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.501 141311 chr19 17922653 17922653 G A rs370538223 B3GNT3 Nonsynonymous SNV A281T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 141312 chr4 187540958 187540958 G A rs189912205 FAT1 Nonsynonymous SNV T2261M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.6 141313 chr18 33069311 33069311 G A rs11875555 INO80C Synonymous SNV P65P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.039 141314 chr1 16255067 16255067 G T SPEN Nonsynonymous SNV D778Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 141315 chr7 73011015 73011015 G A rs781939934 MLXIPL Synonymous SNV P592P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.353 141316 chr4 190582297 190582297 A G rs13118946 LINC01262 0 0 0.007 0 0 0 0 2 0 0 1 0 4.253 141317 chr4 190582299 190582299 A C rs13118951 LINC01262 0 0 0.007 0 0 0 0 2 0 0 1 0 1.04 141318 chr19 44051130 44051130 C T XRCC1 0.004 0 0 1 5 0 0.003 0 0 0 0 0 26.5 141319 chr19 39232475 39232475 C T rs137937350 CAPN12 Nonsynonymous SNV V168M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 141320 chr1 165648739 165648739 G A rs775613408 ALDH9A1 Synonymous SNV D290D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.647 141321 chr5 180552294 180552294 C T rs773766571 OR2V1 Stop gain W4X 0.001 0.008 0 0 1 3 0 0 0 0 0 0 34 141322 chr19 39402468 39402468 C T rs558631739 CCER2 Nonsynonymous SNV R29K 0 0.005 0.007 0 0 2 0 2 0 0 0 0 15.93 141323 chr18 42532604 42532604 A G rs149162154 SETBP1 Nonsynonymous SNV H1100R 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 Likely benign 23.2 141324 chr19 18893732 18893732 T C rs61752496 COMP Nonsynonymous SNV Q756R 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign/Likely benign 0.005 141325 chr7 42004297 42004297 A G GLI3 Synonymous SNV G1458G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.256 141326 chr19 19135801 19135801 T C rs61999285 SUGP2 Synonymous SNV L452L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.456 141327 chr4 3487297 3487297 G A rs375631042 DOK7 Nonsynonymous SNV G185R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.9 141328 chr18 47792721 47792721 G C rs554227029 CFAP53 Synonymous SNV P18P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.431 141329 chr8 19682436 19682436 A G rs201680124 INTS10 Nonsynonymous SNV K91R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.42 141330 chr4 3589747 3589747 T C rs200944905 LINC00955 0 0 0.02 0 0 0 0 6 0 0 0 0 7.33 141331 chr4 3590824 3590829 ACACAC - rs763665777 LINC00955 0 0 0.003 0 0 0 0 1 0 0 0 0 141332 chr19 19822566 19822566 G A rs16996257 ZNF14 Synonymous SNV C508C 0.002 0 0 0 2 0 0 0 0 0 0 0 7.103 141333 chr19 20727601 20727601 C T rs782445528 ZNF737 Nonsynonymous SNV A470T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 141334 chr4 36118684 36118684 C T rs139889832 ARAP2 Nonsynonymous SNV R1346Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 141335 chr19 20736639 20736639 C T rs111988999 ZNF737 Synonymous SNV G2G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 2.267 141336 chr7 91695779 91695779 C T rs139770404 AKAP9 Synonymous SNV F2083F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.46 141337 chr19 22256347 22256347 G A rs10423157 ZNF257 Synonymous SNV E69E 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.161 141338 chr19 22499880 22499880 G A rs114449827 ZNF729 Nonsynonymous SNV V1221I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.91 141339 chr19 23406120 23406120 G T rs113912765 ZNF724 Synonymous SNV P309P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.313 141340 chr19 23406585 23406585 A G rs75164806 ZNF724 Synonymous SNV F154F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.167 141341 chr7 98449080 98449080 T C TMEM130 Nonsynonymous SNV T222A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 141342 chr1 177242718 177242718 T C rs143480926 BRINP2 Nonsynonymous SNV V255A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 141343 chr19 42839202 42839202 C T rs778498838 MEGF8 Nonsynonymous SNV R192C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 141344 chr18 60036082 60036082 C T rs764561352 TNFRSF11A Nonsynonymous SNV T297I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 141345 chr19 33106618 33106618 G A rs146025565 ANKRD27 Synonymous SNV D707D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.357 141346 chr1 179966292 179966292 C T rs141799814 CEP350 Nonsynonymous SNV P334S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 141347 chr19 46307592 46307592 G C rs144552615 RSPH6A Nonsynonymous SNV P524R 0.006 0 0.003 0 7 0 0 1 0 0 0 0 27.8 141348 chr7 56147283 56147283 G C rs773695444 SUMF2 Nonsynonymous SNV G211A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 141349 chr19 34884857 34884857 C A rs8191416 GPI Synonymous SNV A288A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.84 141350 chr7 72874040 72874040 T C rs781831392 BAZ1B Synonymous SNV S1086S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.264 141351 chr19 3551132 3551132 G A rs199634288 MFSD12 Nonsynonymous SNV A111V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 141352 chr19 35622424 35622424 C T rs547959045 LGI4 Nonsynonymous SNV R165H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 141353 chr19 48047500 48047500 C T rs556413439 ZNF541 Synonymous SNV A762A 0.003 0 0 0 4 0 0 0 0 0 0 0 15.86 141354 chr6 34735711 34735711 C A SNRPC Nonsynonymous SNV P63T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 141355 chr4 6303197 6303197 G A rs55814513 WFS1 Nonsynonymous SNV A559T 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Benign/Likely benign 21.6 141356 chr1 186281392 186281392 T C rs138093894 PRG4 Synonymous SNV Y1159Y 0.009 0.01 0.01 4 11 4 0.01 3 0 1 0 0 Benign 2.036 141357 chr18 77013416 77013416 G A rs373460415 ATP9B Synonymous SNV T381T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 14.77 141358 chr19 36291105 36291105 C T rs3761096 PRODH2 Synonymous SNV V482V 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 11.45 141359 chr19 37487311 37487311 A G ZNF568 Nonsynonymous SNV R176G 0.002 0 0 4 2 0 0.01 0 0 0 0 0 8.151 141360 chr19 45317448 45317448 C T rs139610351 BCAM Nonsynonymous SNV S275F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.7 141361 chr19 36530931 36530931 G A rs762331594 THAP8 Nonsynonymous SNV P64L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.7 141362 chr4 71510411 71510411 A G ENAM Nonsynonymous SNV T872A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.59 141363 chr4 74088744 74088744 T C ANKRD17 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 141364 chr4 7435805 7435805 C A rs3796905 PSAPL1 Nonsynonymous SNV A268S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.518 141365 chr19 45911516 45911518 CCT - rs761300455 CD3EAP S100del 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 141366 chr7 91712609 91712609 A C rs144875383 AKAP9 Nonsynonymous SNV K2762N 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.211 141367 chr19 10106896 10106896 G A rs148417859 COL5A3 Nonsynonymous SNV R489C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 141368 chr19 38127095 38127095 T C rs752952049 ZFP30 Nonsynonymous SNV E116G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.182 141369 chr1 197128534 197128534 G A rs140474865 ZBTB41 Synonymous SNV S895S 0.012 0.008 0.01 1 14 3 0.003 3 0 0 0 0 7.722 141370 chr7 94940880 94940880 A C rs144390653 PON1 Nonsynonymous SNV M127R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 19.24 141371 chr1 200842341 200842341 T C rs138176594 GPR25 Nonsynonymous SNV F59S 0.006 0 0.007 5 7 0 0.013 2 0 0 0 0 24.4 141372 chr1 200956157 200956157 C T rs375407145 KIF21B Nonsynonymous SNV R1194H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 141373 chr6 43021587 43021587 C T rs1043147230 CUL7 Nonsynonymous SNV G4S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 22.7 141374 chr19 38817359 38817359 C T rs35762773 KCNK6 Nonsynonymous SNV T150I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 22.9 141375 chr4 8272021 8272021 G A HTRA3 Nonsynonymous SNV R109H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 141376 chr1 201958634 201958634 C T rs147777734 RNPEP Synonymous SNV L107L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.08 141377 chr4 83294794 83294799 GCCGCC - rs762068003 HNRNPD A14_A15del 0 0 0.003 0 0 0 0 1 0 0 0 0 141378 chr19 38875058 38875058 G A rs139780646 GGN Synonymous SNV S651S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.885 141379 chr19 38894294 38894294 G T rs369190079 FAM98C Synonymous SNV A103A 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 12.1 141380 chr1 203317208 203317208 G A rs114312865 FMOD Nonsynonymous SNV T64I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.015 141381 chr4 8621094 8621094 G A rs113699437 CPZ Nonsynonymous SNV R559Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.4 141382 chr1 20412679 20412679 C T rs11573265 PLA2G5 Synonymous SNV C48C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.02 141383 chr19 11558346 11558346 - GAG PRKCSH E325_A326insE 0.003 0 0 1 4 0 0.003 0 0 0 0 0 141384 chr19 39575987 39575987 G A rs544041 ACP7 Synonymous SNV G26G 0.01 0.01 0.01 3 12 4 0.008 3 0 1 1 0 1.271 141385 chr4 88537375 88537375 T C rs369987019 DSPP Synonymous SNV S1187S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.603 141386 chr4 88537429 88537429 T C rs375644765 DSPP Synonymous SNV S1205S 0 0 0.01 0 0 0 0 3 0 0 0 0 0.086 141387 chr4 88537433 88537450 AGCAGTGACAGCAGTGAC - DSPP S1226_S1231del 0 0 0.01 0 0 0 0 3 0 0 0 0 141388 chr8 120575249 120575249 C T rs61758149 ENPP2 Nonsynonymous SNV V757M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 141389 chr19 40887009 40887009 C T rs140926477 HIPK4 Nonsynonymous SNV G297S 0.008 0.01 0 0 9 4 0 0 0 0 0 0 3.535 141390 chr19 5210582 5210582 C T rs767581235 PTPRS Synonymous SNV P1348P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 20.6 141391 chr19 52130438 52130438 A T rs201987666 SIGLEC5 Nonsynonymous SNV L449Q 0.002 0 0.01 0 2 0 0 3 0 0 0 0 22.1 141392 chr19 14034243 14034243 C T rs202057391 CC2D1A Nonsynonymous SNV T580I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 141393 chr19 5229611 5229611 C A PTPRS Nonsynonymous SNV G734V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 141394 chr19 42213670 42213670 G A rs140477498 CEACAM5 Nonsynonymous SNV A46T 0.011 0.005 0.007 7 13 2 0.018 2 0 0 0 0 22.4 141395 chr19 42213888 42213888 A G rs118125351 CEACAM5 Synonymous SNV G118G 0.011 0.005 0.007 7 13 2 0.018 2 0 0 0 0 0.086 141396 chr19 42265158 42265158 G A rs150279040 CEACAM6 Synonymous SNV P142P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.848 141397 chr5 10227711 10227711 G A rs200658616 ATPSCKMT Stop gain R165X 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 141398 chr7 133059727 133059727 G A EXOC4 Nonsynonymous SNV V385I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 141399 chr5 110411758 110411758 C T TSLP Synonymous SNV L60L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.806 141400 chr8 133142170 133142170 T C rs554833870 KCNQ3 Nonsynonymous SNV Q533R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 7.97 141401 chr19 42795455 42795455 C T rs200916715 CIC Synonymous SNV A845A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.65 141402 chr19 15230319 15230319 C T rs144521840 ILVBL Nonsynonymous SNV R275H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 141403 chr19 42824571 42824571 C T rs377216123 TMEM145 Synonymous SNV Y406Y 0.003 0 0 0 3 0 0 0 0 0 0 0 10.22 141404 chr8 133935605 133935605 C T rs201764119 TG Synonymous SNV N1517N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.38 141405 chr5 112175211 112175211 T A rs1801155 APC Nonsynonymous SNV I1289K 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 Conflicting interpretations of pathogenicity, risk factor 5.302 141406 chr19 53117040 53117040 G A ZNF83 Nonsynonymous SNV P260S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 141407 chr7 138603473 138603473 G A rs201014208 KIAA1549 Nonsynonymous SNV P300L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.55 141408 chr1 216243533 216243533 A T rs747652397 USH2A Nonsynonymous SNV Y1987N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.1 141409 chr19 51585978 51585978 C T rs117229324 KLK14 0.012 0.013 0.003 0 14 5 0 1 0 0 0 0 Likely benign 10.51 141410 chr19 16640608 16640608 C G CHERP Nonsynonymous SNV S327T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 141411 chr19 44570516 44570516 G C rs75067934 ZNF223 Nonsynonymous SNV D179H 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 18.28 141412 chr19 16884004 16884004 G T NWD1 Synonymous SNV L620L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.724 141413 chr1 22083042 22083042 T C rs367960469 USP48 Nonsynonymous SNV K137E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.123 141414 chr1 22169291 22169291 C T rs202072683 HSPG2 Nonsynonymous SNV R2962H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 141415 chr5 128326067 128326067 A G rs61744876 SLC27A6 Synonymous SNV A293A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.93 141416 chr19 17306037 17306037 C T rs369057835 MYO9B Synonymous SNV S1267S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 141417 chr7 105029730 105029730 C A SRPK2 Stop gain G30X 0 0 0 1 0 0 0.003 0 0 0 0 0 12.17 141418 chr7 107564438 107564438 C T rs755468191 LAMB1 Synonymous SNV K1773K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 141419 chr19 4511920 4511920 T A PLIN4 Synonymous SNV T684T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.389 141420 chr19 45147467 45147467 C T rs1006707574 PVR Nonsynonymous SNV P24L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.9 141421 chr19 45575504 45575504 G A rs140130397 ZNF296 Synonymous SNV C261C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.741 141422 chr19 55993919 55993919 C G rs934336159 ZNF628 Synonymous SNV P453P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.046 141423 chr19 1863434 1863434 C G rs915547956 KLF16 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 141424 chr19 46850401 46850401 G T rs139958712 PPP5C Synonymous SNV R16R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.666 141425 chr7 127953296 127953296 G A rs142674151 RBM28 Nonsynonymous SNV H552Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 16.95 141426 chr19 19293449 19293449 C T rs566625799 BORCS8 Nonsynonymous SNV V87M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 31 141427 chr19 54672284 54672284 G C rs138303118 TMC4 Nonsynonymous SNV P195A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.093 141428 chr7 155755648 155755648 G A LOC389602 Nonsynonymous SNV R42H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 141429 chr7 131883311 131883311 C T rs62622406 PLXNA4 Nonsynonymous SNV A891T 0.009 0.005 0.01 1 11 2 0.003 3 0 0 0 0 21.5 141430 chr1 22925333 22925333 C T rs372865058 EPHA8 Synonymous SNV T727T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.462 141431 chr19 54947332 54947332 G C rs147841877 TTYH1 Nonsynonymous SNV E444Q 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 12.74 141432 chr19 49116250 49116250 C T rs376719222 FAM83E Nonsynonymous SNV R127Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 141433 chr5 140773640 140773640 C T rs762892708 PCDHGA8 Synonymous SNV I420I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.151 141434 chr5 141051538 141051538 C T rs1022286744 ARAP3 Nonsynonymous SNV R532Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 141435 chr19 57065316 57065316 T G rs754921889 ZFP28 Nonsynonymous SNV S388A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.287 141436 chr19 57066266 57066266 G C rs770534930 ZFP28 Nonsynonymous SNV M704I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 141437 chr19 49813759 49813759 C T rs189659673 SLC6A16 Nonsynonymous SNV A142T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.146 141438 chr19 57089533 57089533 A G rs764933797 ZNF470 Nonsynonymous SNV Y579C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 141439 chr19 49977929 49977929 A G rs75750998 FLT3LG Synonymous SNV T11T 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 Benign 6.461 141440 chr7 139416059 139416059 T C HIPK2 Nonsynonymous SNV N259D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 141441 chr5 145969624 145969624 G A rs141962233 PPP2R2B Synonymous SNV V409V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 141442 chr19 50189430 50189430 C T rs750907553 PRMT1 Synonymous SNV Y194Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 141443 chr19 50191424 50191424 C T PRMT1 Synonymous SNV D260D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 141444 chr19 5791071 5791071 C T rs202028556 DUS3L Nonsynonymous SNV A28T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25 141445 chr6 124604201 124604201 A G rs34368457 NKAIN2 Synonymous SNV A35A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Benign 6.126 141446 chr7 142568074 142568074 G C EPHB6 Synonymous SNV R613R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.514 141447 chr5 148747678 148747678 G A rs35552800 PCYOX1L Nonsynonymous SNV A299T 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 6.89 141448 chr19 50096629 50096629 C T PRR12 Synonymous SNV I44I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 17.44 141449 chr19 5892971 5892971 A G NDUFA11 Nonsynonymous SNV I215T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 141450 chr5 150920176 150920176 C T rs189094526 FAT2 Synonymous SNV V2997V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 141451 chr19 51848524 51848524 C T rs149129214 ETFB Nonsynonymous SNV V328I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.58 141452 chr19 620392 620392 G A rs55870082 POLRMT Synonymous SNV A912A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.869 141453 chr19 36258778 36258778 C G rs923904872 PROSER3 Nonsynonymous SNV S344C 0.002 0 0 0 2 0 0 0 0 0 0 0 3.332 141454 chr19 6380938 6380938 G A rs201144023 GTF2F1 Nonsynonymous SNV A403V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.6 141455 chr19 36334480 36334480 C T rs770750372 NPHS1 Nonsynonymous SNV R743H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 141456 chr7 149510793 149510793 G A rs748630832 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 9.979 141457 chr1 245850754 245850754 - CAG rs774273841 KIF26B S1494_G1495insS 0.001 0 0 8 1 0 0.021 0 0 0 0 0 141458 chr1 246754956 246754956 G A rs142551939 CNST Nonsynonymous SNV C31Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.069 141459 chr8 20107562 20107562 T A rs372436839 LZTS1 Nonsynonymous SNV M488L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 141460 chr19 56720219 56720219 G A rs757099294 ZSCAN5C Nonsynonymous SNV E381K 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 25.3 141461 chr19 51769121 51769121 G A rs752438620 SIGLECL1 Nonsynonymous SNV C38Y 0.003 0 0 0 4 0 0 0 0 0 0 0 27.3 141462 chr19 3747927 3747927 G A rs145696916 TJP3 Nonsynonymous SNV E820K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 141463 chr19 57133333 57133333 T C rs8106568 ZNF71 Synonymous SNV T226T 0.014 0.01 0.003 4 16 4 0.01 1 0 0 0 0 1.423 141464 chr7 150501519 150501519 C G rs200905753 TMEM176A Nonsynonymous SNV P209A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 141465 chr19 52468136 52468136 C T rs4988337 ZNF350 Nonsynonymous SNV V524I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 141466 chr7 150693556 150693556 G A rs3918166 NOS3 Nonsynonymous SNV R112Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 15.2 141467 chr8 24207413 24207413 C T rs747833359 ADAM28 Nonsynonymous SNV A676V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 141468 chr7 150696078 150696078 C T rs9282804 NOS3 Synonymous SNV D287D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 16.02 141469 chr19 38692587 38692587 C T SIPA1L3 Synonymous SNV H1690H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.22 141470 chr7 151052897 151052897 G A rs17173104 NUB1 Synonymous SNV A177A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.33 141471 chr9 73152169 73152169 C T rs141399885 TRPM3 Nonsynonymous SNV R1265Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.4 141472 chr7 151127182 151127182 G T rs73476444 CRYGN Synonymous SNV T167T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.991 141473 chr5 175764090 175764090 G T SIMC1 Nonsynonymous SNV W227L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 141474 chr19 53344105 53344105 G A rs199499086 ZNF468 Nonsynonymous SNV S481L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.269 141475 chr19 815254 815254 G A rs148299276 PLPPR3 Nonsynonymous SNV A112V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.55 141476 chr1 248366464 248366464 T C rs148702755 OR2M3 Nonsynonymous SNV L32P 0.001 0 0 6 1 0 0.015 0 0 0 0 0 22 141477 chr8 28654110 28654110 G T rs143568689 INTS9 Synonymous SNV I248I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.647 141478 chr8 30695500 30695500 G A rs759813914 TEX15 Nonsynonymous SNV T2767M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 141479 chr19 39944053 39944064 GAAGAGGAGGAG - rs757652203 SUPT5H E50_E53del 0.002 0 0 0 2 0 0 0 0 0 0 0 141480 chr5 177652392 177652392 T C rs7707147 PHYKPL Nonsynonymous SNV H85R 0 0 0.01 0 0 0 0 3 0 0 0 0 9.505 141481 chr8 1719279 1719279 C G rs749651452 CLN8 Nonsynonymous SNV S20C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.4 141482 chr8 39604025 39604025 T C rs201499441 ADAM2 Nonsynonymous SNV K695E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 141483 chr1 26671719 26671719 C T rs201245727 CRYBG2 Nonsynonymous SNV R477Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.267 141484 chr19 41281501 41281501 C T rs143000023 MIA Synonymous SNV S18S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.51 141485 chr8 6566399 6566399 C T rs367932714 AGPAT5 Synonymous SNV T70T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.46 141486 chr19 44111823 44111823 G A rs143962735 ZNF428 Synonymous SNV D171D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.786 141487 chr6 170592109 170592109 G A rs118154169 DLL1 Synonymous SNV S711S 0.006 0.005 0.003 6 7 2 0.015 1 0 0 0 0 Benign 3.823 141488 chr19 55870393 55870393 C T rs541912675 FAM71E2 Nonsynonymous SNV V615M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.482 141489 chr8 11301695 11301695 G A rs141133384 FAM167A Nonsynonymous SNV R76C 0 0 0.01 1 0 0 0.003 3 0 0 0 0 11.14 141490 chr8 11405542 11405542 C G rs146083915 BLK Nonsynonymous SNV D59E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 0.001 141491 chr1 33772924 33772924 G C rs201711967 A3GALT2 Nonsynonymous SNV R156G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.4 141492 chr8 77765105 77765105 G A rs757178425 ZFHX4 Nonsynonymous SNV R1983H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 141493 chr9 109687141 109687141 C T rs144035514 ZNF462 Synonymous SNV T316T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.18 141494 chr8 82371424 82371424 A G rs61736844 FABP9 Synonymous SNV T74T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.806 141495 chr8 82371430 82371430 A G rs61736846 FABP9 Synonymous SNV D72D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.063 141496 chr1 36935328 36935328 G A rs538923210 CSF3R Nonsynonymous SNV P467S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.001 141497 chr8 101601176 101601176 C T rs781483430 SNX31 Nonsynonymous SNV R238K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.656 141498 chr19 56614455 56614455 C G ZNF787 Synonymous SNV L44L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.946 141499 chr1 10364067 10364067 C T rs542546734 KIF1B Nonsynonymous SNV R942C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 141500 chr5 63256729 63256729 C T rs1800042 HTR1A Nonsynonymous SNV G273D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.553 141501 chr5 64956563 64956563 A G rs201906257 TRAPPC13 Nonsynonymous SNV M83V 0.002 0 0.01 0 2 0 0 3 0 0 0 0 13.23 141502 chr1 109824630 109824630 G A rs756458568 PSRC1 Nonsynonymous SNV R44W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 141503 chr5 68728824 68728824 C T rs61736168 MARVELD2 Synonymous SNV Y457Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.09 141504 chr8 125074273 125074273 G A rs150319468 FER1L6 Nonsynonymous SNV D1110N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.54 141505 chr7 21675649 21675649 A G DNAH11 Nonsynonymous SNV E1554G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 28 141506 chr8 125989408 125989408 T C rs372094161 ZNF572 Nonsynonymous SNV Y300H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 141507 chr1 46977886 46977886 G C rs114486361 DMBX1 Nonsynonymous SNV G290A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.057 141508 chr8 27293288 27293288 C T rs374442178 PTK2B Synonymous SNV D407D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.11 141509 chr19 59022799 59022799 G A rs150780205 SLC27A5 Nonsynonymous SNV T175I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 1.269 141510 chr1 1118391 1118391 C T rs770599987 TTLL10 Nonsynonymous SNV T278M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.02 141511 chr8 133980133 133980133 G A rs778070217 TG Synonymous SNV V1927V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 141512 chr8 27737090 27737090 C T rs117792428 SCARA5 Synonymous SNV G449G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.673 141513 chr5 75003659 75003659 T C rs199744659 POC5 Synonymous SNV P17P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.027 141514 chr19 58991723 58991723 C T rs34732619 ZNF446 Nonsynonymous SNV P328L 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 3.489 141515 chr8 29959466 29959466 T A LEPROTL1 Synonymous SNV L23L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.08 141516 chr9 125551243 125551243 T C OR5C1 Nonsynonymous SNV V11A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 141517 chr5 76128994 76128994 G A rs570644515 F2RL1 Nonsynonymous SNV A188T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 141518 chr1 103377744 103377744 C T rs151249006 COL11A1 Nonsynonymous SNV A1237T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 141519 chr8 142432360 142432360 C G PTP4A3 Nonsynonymous SNV P7R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 141520 chr1 10709411 10709411 G C rs150861465 CASZ1 Synonymous SNV P988P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 6.299 141521 chr8 37963126 37963126 G A rs139384247 ASH2L Nonsynonymous SNV A20T 0 0 0 2 0 0 0.005 0 0 0 0 0 19.52 141522 chr1 109264976 109264976 C T rs768444184 FNDC7 Synonymous SNV N206N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 141523 chr5 79351738 79351738 A G rs17882513 THBS4 Synonymous SNV L50L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.186 141524 chr5 79378233 79378233 C T rs151007074 THBS4 Stop gain R806X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 141525 chr8 39871098 39871098 C T rs200354370 IDO2 Nonsynonymous SNV P258L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 141526 chr1 57378148 57378148 C T rs370599466 C8A Nonsynonymous SNV R485C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 141527 chr19 757547 757547 C T rs986654023 MISP Synonymous SNV L201L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 13.88 141528 chr7 37251077 37251077 C T rs905018511 ELMO1 Nonsynonymous SNV A334T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 141529 chr8 55539893 55539893 C T rs774378003 RP1 Nonsynonymous SNV H1151Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.556 141530 chr7 39243904 39243904 C G rs143669624 POU6F2 Synonymous SNV P116P 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Likely benign 1.339 141531 chr19 7964869 7964869 G T LRRC8E Nonsynonymous SNV V359L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 23.3 141532 chr8 56922480 56922480 C T rs142291090 LYN Synonymous SNV A429A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 16.74 141533 chr19 7964979 7964979 G C LRRC8E Synonymous SNV R395R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.011 141534 chr8 59522164 59522164 G A rs764341478 NSMAF Nonsynonymous SNV P260L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 141535 chr9 132377869 132377869 C T rs111868243 C9orf50 Synonymous SNV S258S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.403 141536 chr1 12169689 12169689 C T rs141348765 TNFRSF8 Nonsynonymous SNV P52L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 141537 chr1 65339122 65339122 G A rs35237903 JAK1 Synonymous SNV Y138Y 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 8.002 141538 chr19 8197953 8197953 G A rs779754358 FBN3 Synonymous SNV N543N 0.003 0 0 0 3 0 0 0 0 0 0 0 1.449 141539 chr8 70981900 70981900 T C rs781674822 PRDM14 Nonsynonymous SNV M66V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 141540 chr9 133769206 133769206 A - rs780949899 QRFP L7Rfs*53 0.001 0.003 0 0 1 1 0 0 0 0 0 0 141541 chr1 6692975 6692975 T C rs763507462 THAP3 Synonymous SNV D185D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.554 141542 chr1 1269469 1269469 C T rs139727182 TAS1R3 Synonymous SNV V728V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.809 141543 chr1 1322950 1322950 G A rs577602975 CCNL2 Synonymous SNV S186S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.824 141544 chr5 98229285 98229285 G A CHD1 Nonsynonymous SNV A609V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 141545 chr8 145533458 145533458 G C HSF1 Nonsynonymous SNV V122L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 141546 chr9 134501651 134501651 G A rs113690899 RAPGEF1 Nonsynonymous SNV H454Y 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.569 141547 chr9 134735963 134735963 G A rs376222049 MED27 Stop gain R264X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 47 141548 chr19 51870429 51870429 G A rs1059344 CLDND2 Synonymous SNV T157T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 16.46 141549 chr9 135203803 135203803 G A rs12352982 SETX Nonsynonymous SNV P1061L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.002 141550 chr9 135275596 135275596 C T rs12336746 TTF1 Nonsynonymous SNV E473K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.84 141551 chr6 116599896 116599896 G T rs140756663 TSPYL1 Nonsynonymous SNV F366L 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 Likely benign 13.82 141552 chr9 893993 893995 CCA - DMRT1 T50del 0.001 0 0 0 1 0 0 0 0 0 0 0 141553 chr9 1051910 1051910 C G rs183524725 DMRT2 Synonymous SNV T99T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 13.29 141554 chr1 151502455 151502455 G A rs139586578 CGN Nonsynonymous SNV R726Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 20.6 141555 chr1 151810877 151810877 G A rs776139582 C2CD4D Synonymous SNV L197L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.43 141556 chr9 2718760 2718760 G C rs779892023 KCNV2 Nonsynonymous SNV V341L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 141557 chr6 11778988 11778988 G A rs763153435 ADTRP Nonsynonymous SNV T2M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.65 141558 chr9 5747304 5747304 T C rs201153081 RIC1 Synonymous SNV S417S 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 10.28 141559 chr9 5922071 5922071 T C rs151185112 KIAA2026 Nonsynonymous SNV S1309G 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 3.225 141560 chr9 5922080 5922080 C G rs140343430 KIAA2026 Nonsynonymous SNV V1306L 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 0.001 141561 chr19 53303656 53303656 T A rs150655137 ZNF28 Nonsynonymous SNV H428L 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 3.54 141562 chr1 86959242 86959242 A G CLCA1 Nonsynonymous SNV N547S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 141563 chr9 139256513 139256513 G A rs61729715 DNLZ Nonsynonymous SNV A163V 0.007 0.003 0 0 8 1 0 0 0 0 0 0 2.081 141564 chr9 139277994 139277994 - GCT rs560108191 SNAPC4 S542_E543insS 0.001 0 0 0 1 0 0 0 0 0 0 0 141565 chr7 75612953 75612953 A G rs538316500 POR Nonsynonymous SNV R316G 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.5 141566 chr1 89299123 89299123 T C rs184754507 PKN2 Nonsynonymous SNV W935R 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 26 141567 chr9 13219751 13219751 C G rs201889514 MPDZ Nonsynonymous SNV S298T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.5 141568 chr9 15777640 15777640 C G rs201932972 CCDC171 Nonsynonymous SNV A913G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 141569 chr19 54393261 54393261 C T rs189397138 PRKCG Synonymous SNV I173I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.04 141570 chr8 125113522 125113522 G A rs201007406 FER1L6 Nonsynonymous SNV A1690T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.9 141571 chr6 132006558 132006558 G A rs144514461 ENPP3 Nonsynonymous SNV R392K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.851 141572 chr6 132185676 132185676 T G rs150279426 ENPP1 Synonymous SNV A352A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.05 141573 chr9 21333926 21333926 C G rs369605312 KLHL9 Synonymous SNV L311L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.622 141574 chr6 134824022 134824022 C T rs146798545 LINC01010 0 0 0.01 0 0 0 0 3 0 0 0 0 5.92 141575 chr6 134824211 134824211 C T rs10872424 LINC01010 0 0 0.017 0 0 0 0 5 0 0 1 0 6.939 141576 chr9 32420915 32420915 A C ACO1 Nonsynonymous SNV Q287P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 141577 chr1 107599370 107599370 G A rs557350900 PRMT6 Synonymous SNV S11S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.09 141578 chr1 10364335 10364335 T C rs149267056 KIF1B Nonsynonymous SNV I1031T 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 Benign 15.43 141579 chr6 139203970 139203970 T C ECT2L Nonsynonymous SNV F664L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 141580 chr9 140881239 140881239 A G rs778810624 CACNA1B Nonsynonymous SNV N636S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.95 141581 chr1 10725469 10725469 G A rs149479567 CASZ1 Nonsynonymous SNV S59L 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 Benign 6.581 141582 chr9 35060421 35060421 G A rs147623367 VCP Synonymous SNV A483A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.22 141583 chr9 35737491 35737491 A - rs768208189 GBA2 Q873Rfs*108 0.003 0.003 0 0 4 1 0 0 0 0 0 0 141584 chr9 35750320 35750320 A C rs750533155 RGP1 Nonsynonymous SNV D66A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.51 141585 chr1 109815883 109815883 C T rs149683589 CELSR2 Nonsynonymous SNV R2812W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 141586 chr8 142266806 142266806 C - rs558784083 LOC105375787 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 141587 chr20 10629715 10629715 G A rs147229008 JAG1 Synonymous SNV S463S 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Likely benign 10.16 141588 chr8 143425553 143425553 C T rs61741289 TSNARE1 Synonymous SNV A173A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.46 141589 chr8 143623372 143623372 C A rs61755064 ADGRB1 Synonymous SNV P1259P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 14.04 141590 chr1 110655390 110655390 G A rs530897132 UBL4B Synonymous SNV A78A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.894 141591 chr7 100148026 100148026 G A rs767431926 AGFG2 Nonsynonymous SNV R108Q 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 33 141592 chr1 11105542 11105542 C T rs41307788 MASP2 Nonsynonymous SNV C156Y 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign/Likely benign 28.8 141593 chr1 154544490 154544490 G C rs55685423 CHRNB2 Nonsynonymous SNV Q397H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.436 141594 chr1 154569392 154569392 A G rs774775662 ADAR Nonsynonymous SNV V425A 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 141595 chr6 154360374 154360374 C T OPRM1 Nonsynonymous SNV P27S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.455 141596 chr6 155174524 155174524 - T rs111252952 MIR1273C 0 0 0.007 0 0 0 0 2 0 0 0 0 141597 chr6 157099166 157099168 TCC - rs797045269 ARID1B S41del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 141598 chr6 158490647 158490647 C T rs199647543 SYNJ2 Stop gain Q391X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 141599 chr20 17410083 17410083 C T rs114984146 PCSK2 Synonymous SNV H173H 0.003 0 0 0 3 0 0 0 0 0 0 0 12.21 141600 chr20 17640436 17640436 C G rs890504164 RRBP1 Synonymous SNV G239G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.949 141601 chr19 56599432 56599432 G C rs200892720 ZNF787 Nonsynonymous SNV A369G 0.003 0 0 4 3 0 0.01 0 0 0 0 0 1.838 141602 chr1 115053356 115053356 A G rs1003305224 TRIM33 Synonymous SNV P114P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.299 141603 chr1 115256509 115256525 TCATGGCACTGTACTCT - NRAS E63Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 141604 chr19 56952748 56952748 C T rs764189635 ZNF667 Nonsynonymous SNV R539H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.9 141605 chr9 93637006 93637006 C T rs41274652 SYK Synonymous SNV Y329Y 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.09 141606 chr1 116206689 116206689 C T rs577862345 VANGL1 Synonymous SNV Y202Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.505 141607 chr8 144994438 144994438 G C rs782589164 PLEC Nonsynonymous SNV P3170R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.4 141608 chr8 144995706 144995706 G A rs533602337 PLEC Synonymous SNV P2747P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.741 141609 chr9 96294654 96294654 C T FAM120A Nonsynonymous SNV S651L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 141610 chr19 57868356 57868356 C T rs148833230 ZNF304 Synonymous SNV S373S 0.011 0.013 0.017 6 13 5 0.015 5 0 0 0 0 12.43 141611 chr8 145011407 145011407 G A rs782648152 PLEC Nonsynonymous SNV R76W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 141612 chr8 145016510 145016571 GAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA - PLEC L38_D42delinsH 0.001 0 0 2 1 0 0.005 0 0 0 0 0 141613 chr10 24832540 24832540 C T rs140457046 KIAA1217 Synonymous SNV F1447F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.74 141614 chr1 16474962 16474962 A G EPHA2 Nonsynonymous SNV M191T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.9 141615 chr1 11839005 11839005 C A rs370523367 C1orf167 Nonsynonymous SNV P840Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.263 141616 chr1 11839992 11839992 G T rs558773009 C1orf167 Nonsynonymous SNV V929L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.366 141617 chr9 101133749 101133749 C T rs150053493 GABBR2 Synonymous SNV K589K 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 14.15 141618 chr19 58231890 58231890 G T rs201437268 ZNF671 Nonsynonymous SNV L424I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 25.1 141619 chr1 167734972 167734972 G A rs753205839 MPZL1 Nonsynonymous SNV D82N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.607 141620 chr9 101552744 101552744 G A rs371051266 ANKS6 Synonymous SNV A168A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.266 141621 chr19 58564825 58564825 G A rs758101086 ZSCAN1 Synonymous SNV P211P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 1.583 141622 chr9 101911534 101911534 C A TGFBR1 Synonymous SNV R410R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 141623 chr8 145659553 145659553 G A rs139227363 TONSL Synonymous SNV A1065A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 141624 chr8 145663929 145663929 G A rs150430814 TONSL Synonymous SNV N526N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.029 141625 chr9 103111501 103111501 T C rs372772500 TEX10 Nonsynonymous SNV T52A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.107 141626 chr9 103348609 103348609 C G rs147742000 CAVIN4 Nonsynonymous SNV P324R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.467 141627 chr8 145689597 145689597 C G rs77204173 CYHR1 Synonymous SNV P164P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.99 141628 chr8 145689658 145689658 - C rs547376015 CYHR1 Frameshift insertion A144Gfs*144 0 0 0.01 1 0 0 0.003 3 0 0 0 0 141629 chr8 145736521 145736521 G A rs139004523 MFSD3 Nonsynonymous SNV D405N 0.004 0.005 0.014 5 5 2 0.013 4 0 0 0 0 0.656 141630 chr8 145737705 145737705 C T rs114149451 RECQL4 Nonsynonymous SNV V1020M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.228 141631 chr8 145740375 145740375 C T rs35842750 RECQL4 Nonsynonymous SNV R522H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.6 141632 chr20 31016033 31016033 G C ASXL1 Nonsynonymous SNV V109L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 141633 chr1 12364753 12364753 C T rs773558873 VPS13D Nonsynonymous SNV T2136I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.113 141634 chr9 1056244 1056244 T C rs145393386 DMRT2 Synonymous SNV Y45Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 141635 chr6 26017881 26017881 G C HIST1H1A Nonsynonymous SNV P27R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 141636 chr20 33874627 33874627 T C rs138855147 FAM83C Nonsynonymous SNV N652S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.001 141637 chr9 8499805 8499805 C A rs150444130 PTPRD Nonsynonymous SNV A722S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 141638 chr1 147381272 147381272 C T GJA8 Nonsynonymous SNV P397L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 4.608 141639 chr9 8524949 8524949 C T rs771217760 PTPRD Nonsynonymous SNV A216T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 141640 chr1 160846458 160846458 C G rs8144 ITLN1 Nonsynonymous SNV R313P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.9 141641 chr6 27326983 27326983 - T rs140505698 ZNF204P 0 0 0.014 0 0 0 0 4 0 0 0 0 141642 chr9 14750178 14750178 G T FREM1 Nonsynonymous SNV A371E 0 0 0 1 0 0 0.003 0 0 0 0 0 27 141643 chr1 161202604 161202604 C T rs143067018 NR1I3 Nonsynonymous SNV V152I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.88 141644 chr6 28134368 28134368 A G rs1150674 ZNF192P1 0 0 0.037 0 0 0 0 11 0 0 0 0 14.07 141645 chr19 758725 758725 C T rs187115108 MISP Synonymous SNV S593S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.945 141646 chr10 49400730 49400730 C T rs116034788 FRMPD2 Nonsynonymous SNV R696H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.03 141647 chr1 16260264 16260264 C T rs138115027 SPEN Nonsynonymous SNV A2510V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.9 141648 chr6 3298347 3298347 G A rs151124667 SLC22A23 Synonymous SNV G115G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.697 141649 chr9 117188508 117188508 G A rs149558159 WHRN Synonymous SNV T383T 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.973 141650 chr6 35210837 35210837 G A rs374037998 SCUBE3 Nonsynonymous SNV R577Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 141651 chr19 8175953 8175953 C T rs140448414 FBN3 Nonsynonymous SNV R1400Q 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 19.48 141652 chr19 8188682 8188682 C T rs147035742 FBN3 Nonsynonymous SNV R981Q 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 13.72 141653 chr6 36168368 36168368 C T rs773175488 BRPF3 Nonsynonymous SNV S90F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 141654 chr9 123165286 123165286 G A rs777175354 CDK5RAP2 Nonsynonymous SNV S1472L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 141655 chr6 38370642 38370642 G A rs148322466 BTBD9 Stop gain R339X 0 0 0.007 0 0 0 0 2 0 0 0 0 2.156 141656 chr9 35663332 35663332 A G rs148445592 ARHGEF39 Synonymous SNV H177H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.555 141657 chr9 125145999 125145999 A G PTGS1 Nonsynonymous SNV E277G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 141658 chr6 39271831 39271831 G A rs367870782 KCNK17 Nonsynonymous SNV P197L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 141659 chr9 125289111 125289111 G A rs148307892 OR1N1 Synonymous SNV A154A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.24 141660 chr9 37707518 37707518 T C rs73445151 FRMPD1 Synonymous SNV Y69Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.272 141661 chr6 39835372 39835372 G A rs200589550 DAAM2 Nonsynonymous SNV R172H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 31 141662 chr6 4069940 4069940 T C rs151079256 FAM217A Nonsynonymous SNV I173V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 141663 chr9 71152359 71152359 T G rs200716504 TMEM252 Nonsynonymous SNV Q110P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.259 141664 chr1 155837787 155837787 G C SYT11 Synonymous SNV G22G 0.004 0 0 0 5 0 0 0 0 0 0 0 1.449 141665 chr6 43019421 43019421 G A rs781118195 CUL7 Synonymous SNV L305L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.849 141666 chr9 125682031 125682031 T C rs200467317 ZBTB26 Synonymous SNV Q61Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 141667 chr10 72511901 72511901 G A rs201149079 ADAMTS14 Nonsynonymous SNV V883M 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 32 141668 chr1 158368396 158368396 A G OR10T2 Synonymous SNV P287P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.608 141669 chr1 196227415 196227415 T C KCNT2 Synonymous SNV R1016R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.385 141670 chr1 17764795 17764795 C A rs368819016 RCC2 Synonymous SNV P72P 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 17.87 141671 chr19 9061080 9061080 G C rs78804712 MUC16 Nonsynonymous SNV P8789R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.286 141672 chr7 142626130 142626130 G T rs374962671 TRPV5 Synonymous SNV A191A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.201 141673 chr1 157771725 157771725 G A rs533592414 FCRL1 Nonsynonymous SNV A289V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 141674 chr19 9062847 9062847 A G rs79203775 MUC16 Nonsynonymous SNV I8200T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.117 141675 chr9 80880364 80880364 A G rs779152145 CEP78 Nonsynonymous SNV T569A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 141676 chr6 46660485 46660485 - A TDRD6 Frameshift insertion T1541Nfs*46 0 0 0.003 0 0 0 0 1 0 0 0 0 141677 chr6 46660501 46660501 T C rs61121716 TDRD6 Nonsynonymous SNV C1546R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.2 141678 chr7 143048955 143048955 A T rs150796358 CLCN1 Nonsynonymous SNV E955V 0.003 0.01 0 0 3 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 141679 chr1 159163797 159163797 G A CADM3 Nonsynonymous SNV D220N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 141680 chr1 200522769 200522769 T C KIF14 Nonsynonymous SNV H1074R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 141681 chr10 75160609 75160609 T C ANXA7 Synonymous SNV S2S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.984 141682 chr1 180163385 180163385 C T rs148289660 QSOX1 Synonymous SNV Y442Y 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 13.1 141683 chr1 18023567 18023567 C T rs768691806 ARHGEF10L Nonsynonymous SNV R881C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 28.2 141684 chr1 160786632 160786632 C A rs751688961 LY9 Nonsynonymous SNV L441I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 141685 chr1 183909845 183909845 C T rs150924368 COLGALT2 Nonsynonymous SNV D492N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.4 141686 chr9 134049622 134049622 A G NUP214 Nonsynonymous SNV Q1015R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 141687 chr7 150094734 150094734 G A rs760777314 ZNF775 Nonsynonymous SNV A389T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.236 141688 chr20 60902604 60902604 G A rs199963174 LAMA5 Nonsynonymous SNV S1640L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 141689 chr9 134350258 134350258 G A rs142879877 PRRC2B Synonymous SNV S914S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 141690 chr1 16719972 16719972 C T rs145582218 SZRD1 Synonymous SNV L117L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 141691 chr6 65523380 65523380 C A EYS Nonsynonymous SNV A1112S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.992 141692 chr10 91484823 91484823 C T rs375544106 KIF20B Nonsynonymous SNV R637C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 141693 chr9 135544964 135544964 G C DDX31 Nonsynonymous SNV P32R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.321 141694 chr9 104323144 104323144 A G RNF20 Nonsynonymous SNV N815S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.02 141695 chr1 19166990 19166990 G A rs138259626 TAS1R2 Synonymous SNV N541N 0.005 0.008 0.014 4 6 3 0.01 4 0 0 0 0 7.048 141696 chr9 107298437 107298437 C T rs760323718 OR13C3 Nonsynonymous SNV A220T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.47 141697 chr7 151873293 151873293 G A rs61730545 KMT2C Nonsynonymous SNV P3082L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 not provided 32 141698 chr1 170985393 170985393 T G rs545540009 MROH9 Synonymous SNV L608L 0.003 0 0 0 3 0 0 0 0 0 0 0 1.192 141699 chr1 205277843 205277843 T G rs145449557 NUAK2 Nonsynonymous SNV K124Q 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 28.7 141700 chr1 19504083 19504083 T A UBR4 Nonsynonymous SNV I837F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.3 141701 chr20 62038585 62038585 C T rs35647984 KCNQ2 Synonymous SNV R649R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 2.659 141702 chr7 157926513 157926513 C A rs995224460 PTPRN2 Nonsynonymous SNV G433V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.845 141703 chr1 1688096 1688096 C T rs72634841 NADK Synonymous SNV P260P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.973 141704 chr20 62421595 62421595 T C rs202177354 ZBTB46 Synonymous SNV A172A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 141705 chr9 139401322 139401322 G T NOTCH1 Synonymous SNV G1249G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 141706 chr20 9353001 9353001 A T rs145396163 PLCB4 Nonsynonymous SNV T213S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.5 141707 chr10 101180461 101180461 T C rs371642078 GOT1 Nonsynonymous SNV I74V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 141708 chr20 9624877 9624877 C T PAK5 Nonsynonymous SNV G34S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 34 141709 chr1 210970969 210970969 G A rs759002369 KCNH1 Nonsynonymous SNV T572M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.3 141710 chr6 90660581 90660581 C T rs149898769 BACH2 Nonsynonymous SNV G415E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.26 141711 chr9 116823774 116823774 G A rs112109765 AMBP Synonymous SNV Y261Y 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 9.987 141712 chr1 116569524 116569524 C T rs149427016 SLC22A15 Synonymous SNV G203G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.55 141713 chr1 180135721 180135721 G T QSOX1 Nonsynonymous SNV V121L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 141714 chr1 213134543 213134543 G A rs141888610 VASH2 Synonymous SNV S104S 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 15.91 141715 chr1 203680087 203680087 G A rs202078378 ATP2B4 Nonsynonymous SNV E628K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 34 141716 chr9 123476135 123476135 T C rs201806643 MEGF9 Nonsynonymous SNV T168A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Uncertain significance 17.1 141717 chr1 182499457 182499457 C T rs202037903 RGSL1 Nonsynonymous SNV T735M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.308 141718 chr1 184723731 184723731 G C rs200912232 EDEM3 Nonsynonymous SNV A17G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 19.14 141719 chr9 123904538 123904538 T C rs148672807 CNTRL Nonsynonymous SNV L402S 0.01 0 0.017 4 12 0 0.01 5 0 0 0 0 Benign 28.4 141720 chr1 22178186 22178186 G A rs150649767 HSPG2 Synonymous SNV A2338A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.16 141721 chr1 186084541 186084541 A T rs144346158 HMCN1 Synonymous SNV S3852S 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign/Likely benign 6.325 141722 chr1 207643192 207643192 C T rs147393483 CR2 Nonsynonymous SNV R324C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 141723 chr1 208084350 208084350 G A rs199706543 CD34 Synonymous SNV L26L 0.006 0.005 0.017 0 7 2 0 5 0 0 0 0 14.37 141724 chr10 8006233 8006233 A G rs765499253 TAF3 Nonsynonymous SNV K254E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 141725 chr1 210411420 210411420 C A rs138619747 SERTAD4 Nonsynonymous SNV P39T 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 12.64 141726 chr9 126118576 126118576 G A rs755985258 CRB2 Nonsynonymous SNV A13T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 141727 chr21 43236095 43236095 C T rs146916044 PRDM15 Synonymous SNV K823K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.17 141728 chr21 43236116 43236116 G A rs147946828 PRDM15 Synonymous SNV C816C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.47 141729 chr1 19584394 19584394 C T MRTO4 Synonymous SNV L137L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 141730 chr21 43282086 43282086 T A rs371480422 PRDM15 Nonsynonymous SNV Y217F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 141731 chr21 43282103 43282103 G C rs375129130 PRDM15 Synonymous SNV G211G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.255 141732 chr21 43491502 43491502 G T rs200823234 UMODL1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 141733 chr1 151016132 151016132 T C rs1045692522 BNIPL Synonymous SNV S178S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.441 141734 chr1 151143043 151143043 C T rs141507115 TMOD4 Nonsynonymous SNV G323R 0.003 0 0 0 3 0 0 0 0 0 0 0 32 141735 chr1 197515106 197515106 C G rs374003084 DENND1B Synonymous SNV L432L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.11 141736 chr9 129246291 129246291 C G rs768929152 MVB12B Nonsynonymous SNV L285V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 141737 chr1 200376608 200376608 T G rs74547203 ZNF281 Synonymous SNV G742G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.315 141738 chr1 228113108 228113108 G A rs763194335 WNT9A Nonsynonymous SNV R70C 0.003 0 0 0 3 0 0 0 0 0 0 0 33 141739 chr7 100674464 100674464 A G rs139454683 MUC17 Nonsynonymous SNV N49S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.005 141740 chr21 45548436 45548436 C T rs142510947 LOC102724159, PWP2 Synonymous SNV A838A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 141741 chr9 130575515 130575515 C T rs35789560 FPGS Nonsynonymous SNV R440C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26 141742 chr9 130581049 130581049 T C rs34828244 ENG Synonymous SNV P458P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign/Likely benign 0.168 141743 chr9 130586657 130586657 G A rs36092484 ENG Synonymous SNV L354L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 10.73 141744 chr1 228495982 228495982 C T rs760092049 OBSCN Nonsynonymous SNV R4213C 0.003 0 0 0 3 0 0 0 0 0 0 0 13.3 141745 chr8 28638365 28638365 A G rs377391616 INTS9 Synonymous SNV S394S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.695 141746 chr8 29043934 29043934 T C rs565452082 KIF13B Synonymous SNV P124P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.706 141747 chr21 46323326 46323326 G A rs372501675 ITGB2 Synonymous SNV G151G 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Likely benign 2.186 141748 chr1 153903068 153903068 C T DENND4B Nonsynonymous SNV R1442H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 141749 chr1 20005071 20005071 C T rs199795719 HTR6 Synonymous SNV T242T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.35 141750 chr1 202702823 202702823 C T rs781095038 KDM5B Synonymous SNV A1160A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 141751 chr21 47552386 47552386 G A rs117931394 COL6A2 Nonsynonymous SNV A994T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 10.91 141752 chr1 231830281 231830281 G A rs377484189 DISC1 Synonymous SNV P259P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.192 141753 chr1 202932269 202932269 C G rs148992048 CYB5R1 Nonsynonymous SNV E224Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 141754 chr1 201046233 201046233 G A rs940478189 CACNA1S Synonymous SNV L548L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 141755 chr7 111982781 111982781 A G rs200636456 ZNF277 Synonymous SNV L450L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.704 141756 chr7 112102110 112102115 AAAGAG - rs751750438 IFRD1 E176_K177del 0 0 0.003 0 0 0 0 1 0 0 0 0 141757 chr1 233372681 233372681 T C rs369240676 PCNX2 Synonymous SNV Q756Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.776 141758 chr1 201180168 201180168 G A rs534562140 IGFN1 Synonymous SNV K2049K 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 5.954 141759 chr1 205028717 205028717 G A rs2229867 CNTN2 Nonsynonymous SNV R235Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.8 141760 chr8 55371782 55371782 G T rs756080176 SOX17 Nonsynonymous SNV G158C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.2 141761 chr22 18354637 18354637 C T rs151073968 MICAL3 Synonymous SNV L798L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 141762 chr1 201196266 201196266 C T rs41269933 IGFN1 Synonymous SNV S3681S 0.01 0.008 0 2 12 3 0.005 0 0 0 0 0 17.42 141763 chr1 156352648 156352648 G C rs151015551 RHBG Nonsynonymous SNV G408R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 24.8 141764 chr1 205132102 205132102 C T rs370366077 DSTYK Synonymous SNV T530T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 141765 chr1 228404354 228404354 C T rs369447003 OBSCN Synonymous SNV Y776Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.994 141766 chr7 124404708 124404708 C T rs62638682 GPR37 Nonsynonymous SNV G108E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 141767 chr1 228444531 228444531 C T rs367856512 OBSCN Nonsynonymous SNV R1497W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 141768 chr10 45430153 45430153 G A rs17157262 TMEM72 Synonymous SNV R15R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.027 141769 chr1 236972010 236972010 C T rs1034987757 MTR Nonsynonymous SNV R116W 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 24.7 141770 chr7 128767969 128767969 A G rs6467231 LOC407835 0 0 0.007 0 0 0 0 2 0 0 1 0 2.718 141771 chr9 136916706 136916706 C T rs201751256 BRD3 Synonymous SNV P159P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.15 141772 chr7 134853533 134853533 C T rs199530609 CYREN Nonsynonymous SNV D48N 0.001 0 0.014 0 1 0 0 4 0 0 0 0 9.694 141773 chr7 136700303 136700303 G A rs76394680 CHRM2 Nonsynonymous SNV V231I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 16.71 141774 chr1 205589667 205589667 C A rs199770695 ELK4 Nonsynonymous SNV E169D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 28.2 141775 chr9 139701487 139701487 C T rs56091528 CCDC183 Synonymous SNV I485I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 141776 chr22 25255734 25255734 G A rs952699118 SGSM1 Nonsynonymous SNV D285N 0.004 0 0 0 5 0 0 0 0 0 0 0 24.8 141777 chr10 50966574 50966574 T C OGDHL Nonsynonymous SNV H22R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 141778 chr1 159912851 159912851 G T rs146918168 IGSF9 Nonsynonymous SNV P50H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 141779 chr10 55570317 55570317 T C PCDH15 Nonsynonymous SNV E1492G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 141780 chr9 140110754 140110754 G A rs148845151 NDOR1 Nonsynonymous SNV R519Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.176 141781 chr7 141803124 141803124 T C rs201177568 MGAM Nonsynonymous SNV L1794S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 141782 chr22 26873088 26873088 T G HPS4 Nonsynonymous SNV Q44H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 141783 chr22 28196476 28196476 C T rs200030766 MN1 Nonsynonymous SNV G19D 0.004 0.008 0 0 5 3 0 0 0 0 0 0 26.5 141784 chr7 142561752 142561752 A G EPHB6 Nonsynonymous SNV Q65R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 141785 chr7 142609693 142609693 G T TRPV5 Synonymous SNV T581T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.727 141786 chr1 22200454 22200454 G T rs113652076 HSPG2 Nonsynonymous SNV A1237E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28 141787 chr1 222705311 222705311 C T HHIPL2 Nonsynonymous SNV A574T 0.003 0 0 0 3 0 0 0 0 0 0 0 33 141788 chr7 143771763 143771763 G A rs201188715 OR2A25 Nonsynonymous SNV G151R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 141789 chr1 16475243 16475243 G A rs139200871 EPHA2 Synonymous SNV T97T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 10.66 141790 chr7 1484690 1484690 C T rs200412394 MICALL2 Nonsynonymous SNV R339H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.198 141791 chr7 149509678 149509678 G A rs776712559 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 4.581 141792 chr10 7218099 7218099 C T rs147229551 SFMBT2 Nonsynonymous SNV V613I 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 22.2 141793 chr1 248512255 248512255 T C rs149258733 OR14C36 Nonsynonymous SNV F60S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.4 141794 chr7 150704349 150704349 C A NOS3 Synonymous SNV A699A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 141795 chr10 75407289 75407289 - G rs768606281 SYNPO2L Frameshift insertion P484Sfs*13 0.001 0 0.003 0 1 0 0 1 0 0 0 0 141796 chr1 221912865 221912865 T A DUSP10 Synonymous SNV G74G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.404 141797 chr7 150831601 150831601 C T rs749826638 AGAP3 Nonsynonymous SNV R253C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 141798 chr1 228290051 228290051 T G rs145743393 C1orf35 Nonsynonymous SNV E136A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.6 141799 chr1 228336110 228336110 G A rs375674437 GUK1 Nonsynonymous SNV D193N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.721 141800 chr1 26080052 26080052 C T rs12073358 MAN1C1 Synonymous SNV G304G 0.009 0.003 0 0 10 1 0 0 0 0 0 0 14.95 141801 chr7 154796097 154796097 C T rs117108350 PAXIP1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.499 141802 chr22 37325599 37325599 G A rs758466490 CSF2RB Nonsynonymous SNV E183K 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 141803 chr7 155504041 155504041 C T rs78574802 RBM33 Synonymous SNV L365L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 141804 chr7 156433071 156433071 C T rs768304077 LINC01006 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 141805 chr1 26665910 26665910 G A rs557317095 CRYBG2 Nonsynonymous SNV T1072I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.182 141806 chr7 1574016 1574016 C T rs3824069 LOC100128653 0 0 0.014 0 0 0 0 4 0 0 0 0 0.589 141807 chr7 1589515 1589515 C T TMEM184A Nonsynonymous SNV G207S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 141808 chr1 29618454 29618454 C T rs140574807 PTPRU Nonsynonymous SNV R798C 0.003 0 0 0 4 0 0 0 0 0 0 0 24.2 141809 chr22 40662984 40662984 G C rs143708410 TNRC6B Nonsynonymous SNV G917A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 13.74 141810 chr1 248224336 248224336 C G rs756335337 OR2L3 Nonsynonymous SNV A118G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.3 141811 chr22 41895765 41895765 A G rs188233863 ACO2 Synonymous SNV S24S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 9.141 141812 chr22 41973848 41973848 G A rs147852789 PMM1 Synonymous SNV F210F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.377 141813 chr1 32671835 32671835 G - rs543082090 IQCC G122Afs*35 0.002 0 0 0 2 0 0 0 0 0 0 0 141814 chr8 144511954 144511954 T - MAFA H208Lfs*33 0 0.003 0.003 0 0 1 0 1 0 0 0 0 141815 chr8 144511956 144511957 GT - MAFA H207Pfs*229 0 0.003 0.003 0 0 1 0 1 0 0 0 0 141816 chr22 43275082 43275082 C T rs200898876 PACSIN2 Nonsynonymous SNV D334N 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 24.8 141817 chr7 24329168 24329168 G C NPY Nonsynonymous SNV R80T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 141818 chr1 25558622 25558622 G A rs35782398 SYF2 Synonymous SNV R35R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.66 141819 chr1 236721679 236721679 G C rs61730303 HEATR1 Nonsynonymous SNV P1688A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.025 141820 chr8 144698755 144698755 G A rs776836876 TSTA3 Nonsynonymous SNV S49F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 29.5 141821 chr1 36029370 36029370 G A rs911036691 NCDN Nonsynonymous SNV R521H 0.003 0 0 0 3 0 0 0 0 0 0 0 25 141822 chr10 32573803 32573803 A C rs150808722 EPC1 Nonsynonymous SNV S523A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 141823 chr10 98411016 98411018 TCT - rs748891605 PIK3AP1 E325del 0.001 0 0 0 1 0 0 0 0 0 0 0 141824 chr10 98742129 98742129 G T rs770219418 LCOR Nonsynonymous SNV A638S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 141825 chr1 37948121 37948121 G C rs747380200 ZC3H12A Nonsynonymous SNV R302T 0.012 0.008 0 0 14 3 0 0 0 0 0 0 21.7 141826 chr1 26795615 26795615 C G rs770732789 DHDDS Stop gain S298X 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 38 141827 chr22 46319177 46319177 G A rs75306409 WNT7B Synonymous SNV H203H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.045 141828 chr10 45984867 45984867 T C rs142851532 MARCHF8 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 141829 chr1 39788295 39788295 C A rs141025026 MACF1 Nonsynonymous SNV L1354M 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 27.6 141830 chr1 2433829 2433829 C T rs753359299 PLCH2 Synonymous SNV P953P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.804 141831 chr22 46777908 46777908 G A rs765331834 CELSR1 Nonsynonymous SNV P2308L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.1 141832 chr10 101295274 101295274 - GGC rs773121491 NKX2-3 G305_T306insG 0.001 0 0 0 1 0 0 0 0 0 0 0 141833 chr1 27877757 27877757 C T rs369838366 AHDC1 Synonymous SNV P290P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.75 141834 chr22 47086047 47086047 C T rs746012734 CERK Synonymous SNV T461T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.45 141835 chr1 235590530 235590530 G C TBCE Nonsynonymous SNV R66T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 141836 chr10 101604107 101604107 C T rs17216317 ABCC2 Nonsynonymous SNV P1291L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 26.4 141837 chr10 101808542 101808542 C A rs115096736 CPN1 Synonymous SNV V401V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.68 141838 chr1 31811843 31811843 G A ZCCHC17 Nonsynonymous SNV V111I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.4 141839 chr10 50701221 50701221 C G rs373522295 ERCC6 Nonsynonymous SNV W588S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 141840 chr8 146157104 146157104 C G rs145028977 ZNF16 Nonsynonymous SNV A357P 0.003 0.01 0.007 0 4 4 0 2 0 1 0 0 24.8 141841 chr10 55566671 55566671 G A rs200155519 PCDH15 Synonymous SNV L1566L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.01 141842 chr1 2441546 2441546 G T PANK4 Nonsynonymous SNV S663R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.03 141843 chr1 38409491 38409491 G A rs200033881 INPP5B Nonsynonymous SNV S76L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 141844 chr11 5862459 5862459 G C rs200082124 OR52E6 Synonymous SNV L223L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.201 141845 chr10 64949103 64949103 T A rs200769337 JMJD1C Nonsynonymous SNV K1913I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 29.7 141846 chr7 4874452 4874452 C T rs746766301 RADIL Nonsynonymous SNV R401Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.834 141847 chr11 5878186 5878186 A G OR52E8 Synonymous SNV H249H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 141848 chr11 5878192 5878192 A G rs762494246 OR52E8 Synonymous SNV G247G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.248 141849 chr7 50435936 50435936 C T rs182128033 IKZF1 Synonymous SNV N131N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.468 141850 chr1 50884728 50884728 G A DMRTA2 Nonsynonymous SNV P413L 0.007 0.005 0 0 8 2 0 0 0 0 0 0 15.95 141851 chr1 40923085 40923085 G A ZFP69B Nonsynonymous SNV R137K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.253 141852 chr7 5399075 5399075 T G rs61741391 TNRC18 Nonsynonymous SNV N1596T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.91 141853 chr7 5529733 5529733 G C rs202076983 FBXL18 Nonsynonymous SNV S704C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.497 141854 chr1 26392821 26392821 G T TRIM63 Stop gain Y90X 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 141855 chr1 26507327 26507327 T A rs140685957 CNKSR1 Nonsynonymous SNV V111D 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Uncertain significance 25.9 141856 chr7 6193423 6193423 C G rs982337623 USP42 Synonymous SNV R746R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.406 141857 chr10 121587043 121587043 G C rs61757087 INPP5F Nonsynonymous SNV E440D 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 15.9 141858 chr11 6644006 6644006 C T rs140276142 DCHS1 Synonymous SNV K2967K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.829 141859 chr1 26769324 26769324 G A DHDDS Nonsynonymous SNV D95N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 141860 chr7 6731942 6731942 G A rs369502322 ZNF12 Nonsynonymous SNV R211C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 141861 chr1 57378100 57378100 C T rs199713008 C8A Nonsynonymous SNV R469W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.2 141862 chr1 27943467 27943467 C T FGR Nonsynonymous SNV V195M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 141863 chr7 73279488 73279488 G A rs374594622 TMEM270 Nonsynonymous SNV G80R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 141864 chr10 124598536 124598536 T A rs140178574 CUZD1 Nonsynonymous SNV I149F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.706 141865 chr10 73567614 73567614 G A rs757494360 CDH23 Nonsynonymous SNV D618N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.67 141866 chr10 125526529 125526529 T C rs140728421 CPXM2 Nonsynonymous SNV Y480C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 141867 chr9 35708425 35708425 T C rs35461988 TLN1 Synonymous SNV L1461L 0.006 0.01 0.007 3 7 4 0.008 2 0 0 0 0 10.09 141868 chr10 126515287 126515287 A G rs140790852 ABRAXAS2 Nonsynonymous SNV S131G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.3 141869 chr10 79781739 79781739 G A rs41274610 POLR3A Synonymous SNV D309D 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.701 141870 chr10 126715311 126715311 G - CTBP2 R340Vfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 141871 chr1 20964534 20964534 C T rs138302371 PINK1 Nonsynonymous SNV P196L 0.006 0 0.007 4 7 0 0.01 2 0 0 0 0 Uncertain significance 17.34 141872 chr1 33992823 33992823 G A rs149656829 CSMD2 Nonsynonymous SNV R3259W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27 141873 chr7 84710871 84710871 G A rs200513307 SEMA3D Nonsynonymous SNV R113W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 27 141874 chr9 73233933 73233933 C T rs139079542 TRPM3 Synonymous SNV T714T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.25 141875 chr7 87038633 87038633 A G rs1057495486 ABCB4 Synonymous SNV A953A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.954 141876 chr10 90974675 90974675 C T LIPA Synonymous SNV P254P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.54 141877 chr1 36563558 36563558 G A rs145553904 COL8A2 Nonsynonymous SNV P510L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 141878 chr1 212798601 212798601 C T rs17019481 FAM71A Nonsynonymous SNV R128W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.4 141879 chr7 91700229 91700229 G A rs749345540 AKAP9 Nonsynonymous SNV R2173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.1 141880 chr11 17656445 17656445 G A rs114242958 OTOG Nonsynonymous SNV R2524H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 33 141881 chr7 95906535 95906535 C T rs577901657 SLC25A13 Nonsynonymous SNV S62N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 141882 chr1 33408020 33408020 C T RNF19B Synonymous SNV G481G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 141883 chr1 75108781 75108781 C T rs113591020 ERICH3 Nonsynonymous SNV R82H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 141884 chr7 99621488 99621488 G A rs760995920 ZKSCAN1 Nonsynonymous SNV R120H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 141885 chr11 193113 193113 G A rs200059999 SCGB1C1, SCGB1C2 Nonsynonymous SNV R5H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.203 141886 chr10 97393366 97393366 C T rs746256246 ALDH18A1 Nonsynonymous SNV R89H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 141887 chr1 220276789 220276789 G A rs146236436 IARS2 Synonymous SNV K317K 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Uncertain significance 10.95 141888 chr1 41976329 41976329 C T rs559361161 HIVEP3 Synonymous SNV P2337P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.654 141889 chr1 62739979 62739979 T C rs200292056 KANK4 Nonsynonymous SNV D266G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.085 141890 chr2 170029666 170029666 T G rs748443709 LRP2 Nonsynonymous SNV K3695Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.814 141891 chr10 99228052 99228052 T C rs756719334 MMS19 Nonsynonymous SNV N349S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 141892 chr2 170042245 170042245 T C rs35734447 LRP2 Nonsynonymous SNV N3205D 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 Benign 27.8 141893 chr1 79385882 79385882 T C rs746338806 ADGRL4 Nonsynonymous SNV T483A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.28 141894 chr1 222696035 222696035 G A rs144597197 HHIPL2 Nonsynonymous SNV R695C 0.003 0 0 0 4 0 0 0 0 0 0 0 22.6 141895 chr8 104336878 104336878 G A rs147788385 FZD6 Nonsynonymous SNV A182T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 141896 chr1 86334465 86334465 C T rs762008189 COL24A1 Synonymous SNV K364K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 141897 chr1 74701804 74701811 TCAGTGAA - FPGT-TNNI3K, TNNI3K S21Ifs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 141898 chr8 113649078 113649078 C T rs61753739 CSMD3 Nonsynonymous SNV R1098Q 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 Likely benign 34 141899 chr10 103454391 103454391 C G rs111600818 FBXW4 Nonsynonymous SNV A158P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 14.38 141900 chr10 103454423 103454423 G T rs117664315 FBXW4 Nonsynonymous SNV A147D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.154 141901 chr1 228336425 228336425 G C rs72756242 GUK1 Nonsynonymous SNV G200R 0.003 0 0 0 3 0 0 0 0 0 0 0 10.43 141902 chr1 914645 914647 AGA - rs769047409 PERM1 F588del 0.003 0 0 0 3 0 0 0 0 0 0 0 141903 chr10 106075005 106075005 G A rs199538503 ITPRIP Nonsynonymous SNV L269F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 141904 chr10 111877102 111877102 A G rs140299264 ADD3 Synonymous SNV V163V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 14.18 141905 chr1 228487672 228487672 G A rs55939441 OBSCN Nonsynonymous SNV A4522T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 141906 chr1 45228030 45228030 G A rs142810501 KIF2C Synonymous SNV L547L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.19 141907 chr1 86435939 86435939 T G COL24A1 Nonsynonymous SNV I112L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.107 141908 chr1 228522931 228522931 C T rs113760892 OBSCN Nonsynonymous SNV T5446I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 141909 chr8 128960563 128960563 G A rs150618949 TMEM75 0 0 0.014 0 0 0 0 4 0 0 0 0 3.255 141910 chr10 115537174 115537174 T C rs77905700 PLEKHS1 Synonymous SNV S391S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.002 141911 chr1 95001714 95001714 - TT F3 Frameshift insertion G75Qfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 141912 chr10 116050001 116050001 G A VWA2 Nonsynonymous SNV A709T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 141913 chr1 46826446 46826446 G A rs200276570 NSUN4 Nonsynonymous SNV R226Q 0.004 0 0 0 5 0 0 0 0 0 0 0 25.7 141914 chr1 979268 979268 C T rs142143178 AGRN Nonsynonymous SNV R622W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 31 141915 chr10 116225570 116225570 C T rs138601357 ABLIM1 Nonsynonymous SNV R101Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 141916 chr20 1629967 1629967 G A rs143978848 SIRPG Nonsynonymous SNV T54I 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 10.77 141917 chr1 9305228 9305228 A G rs781368927 H6PD Nonsynonymous SNV K90E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.4 141918 chr2 190313537 190313537 A G rs190390933 WDR75 Star tloss M1? 0.005 0.005 0 0 6 2 0 0 0 0 0 0 1.601 141919 chr1 94514477 94514477 G A rs61749440 ABCA4 Nonsynonymous SNV T897I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 141920 chr1 6524703 6524703 C T rs45497599 TNFRSF25 Synonymous SNV E79E 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 17.09 141921 chr1 6533112 6533112 G A rs111624565 PLEKHG5 Synonymous SNV D306D 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.5 141922 chr11 2185556 2185556 G A rs3842724 TH Synonymous SNV D467D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 4.651 141923 chr2 196788459 196788459 A G DNAH7 Nonsynonymous SNV S1229P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 141924 chr10 134038815 134038815 G A rs760019912 STK32C Synonymous SNV V279V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.21 141925 chr1 6194300 6194300 T C rs767012844 CHD5 Nonsynonymous SNV N1011S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 141926 chr8 144940779 144940779 - A rs781964811 EPPK1 Frameshift insertion R2215Sfs*195 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 141927 chr20 13071817 13071817 G A rs375500511 SPTLC3 Nonsynonymous SNV A232T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 141928 chr10 134981801 134981801 C T rs61750345 KNDC1 Synonymous SNV T115T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 10.58 141929 chr1 75172042 75172042 C T rs149746412 CRYZ Nonsynonymous SNV E173K 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 11.35 141930 chr20 2686666 2686666 G A rs202097996 EBF4 Nonsynonymous SNV R110Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21 141931 chr8 145150906 145150908 CCT - rs754110346 CYC1 L102del 0 0 0.003 0 0 0 0 1 0 0 0 0 141932 chr10 135197632 135197632 C T rs770283450 PAOX Nonsynonymous SNV T346M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.72 141933 chr1 84876548 84876548 G T rs201348404 DNASE2B Nonsynonymous SNV G138V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.4 141934 chr8 145649443 145649443 G A rs201835555 VPS28 Nonsynonymous SNV R177C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 141935 chr8 146033345 146033345 C T rs367866008 ZNF517 Synonymous SNV G341G 0.01 0.01 0.017 6 12 4 0.015 5 1 0 0 0 11.97 141936 chr1 72400820 72400820 C T rs200181663 NEGR1 Synonymous SNV T117T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.42 141937 chr20 20349947 20349947 - GCA rs775592886 INSM1 S347_D348insS 0.001 0.005 0 0 1 2 0 0 0 0 0 0 141938 chr8 146220764 146220764 T G rs61740502 TMED10P1 0 0 0.034 0 0 0 0 10 0 0 0 0 6.754 141939 chr8 146229046 146229046 G A rs142727110 ZNF252P-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 6.622 141940 chr1 89480260 89480260 G A rs768737480 GBP3 Nonsynonymous SNV T133I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 141941 chr20 36572589 36572589 G T VSTM2L Synonymous SNV P183P 0.003 0 0 0 4 0 0 0 0 0 0 0 6.059 141942 chr1 7725170 7725170 G A rs148522530 CAMTA1 Nonsynonymous SNV A825T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 18.43 141943 chr1 89734503 89734503 T C rs757791429 GBP5 Nonsynonymous SNV K76R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 141944 chr20 37612369 37612369 G A rs768493277 DHX35 Nonsynonymous SNV E68K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 141945 chr2 218751284 218751284 C T rs576154784 TNS1 Nonsynonymous SNV G193S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 34 141946 chr20 4202574 4202574 G A rs55926349 ADRA1D Nonsynonymous SNV R439W 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 27.2 141947 chr1 92789305 92789305 T C rs12065163 RPAP2 Synonymous SNV D276D 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 0.015 141948 chr2 219900100 219900100 C T CFAP65 Nonsynonymous SNV C150Y 0.005 0.005 0 0 6 2 0 0 0 0 0 0 3.811 141949 chr8 23060213 23060213 G T rs149012704 TNFRSF10A Synonymous SNV T155T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.048 141950 chr1 93299193 93299193 G A rs58263806 RPL5 Synonymous SNV V55V 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 11.91 141951 chr1 93620318 93620318 A G rs116536133 TMED5 Nonsynonymous SNV M200T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.57 141952 chr1 93676434 93676434 C T rs185127229 CCDC18 Nonsynonymous SNV R429C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.2 141953 chr8 24811210 24811210 G C NEFL Synonymous SNV A423A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 141954 chr9 139110935 139110935 C T rs142403115 QSOX2 Synonymous SNV L299L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 13.2 141955 chr1 94497563 94497563 C T rs61750129 ABCA4 Nonsynonymous SNV R1300Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 7.657 141956 chr1 94510255 94510255 G A rs61754034 ABCA4 Synonymous SNV L988L 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 11.62 141957 chr11 5842450 5842450 T G rs140716674 OR52N2 Stop gain Y295X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 37 141958 chr20 35563560 35563560 C T SAMHD1 Synonymous SNV E127E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 141959 chr1 31769512 31769512 C T rs112029809 SNRNP40 Synonymous SNV G29G 0.004 0 0 0 5 0 0 0 0 0 0 0 17.09 141960 chr1 32110445 32110445 C T rs982272079 PEF1 Synonymous SNV R7R 0.003 0 0 0 3 0 0 0 0 0 0 0 18.7 141961 chr8 30700808 30700808 G A rs758915249 TEX15 Nonsynonymous SNV S2292L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 141962 chr1 32673618 32673618 A G rs147386897 IQCC Nonsynonymous SNV K526E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.3 141963 chr1 33237192 33237192 C T KIAA1522 Synonymous SNV G745G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.946 141964 chr1 33778153 33778153 G A rs72889865 A3GALT2 Nonsynonymous SNV S49L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 141965 chr8 33371073 33371073 C G rs201683811 SNORD13 0 0 0.003 0 0 0 0 1 0 0 0 0 6.931 141966 chr20 3838376 3838376 A G rs984679015 MAVS Nonsynonymous SNV Y71C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 141967 chr9 140379097 140379097 T C PNPLA7 Synonymous SNV S738S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.157 141968 chr11 1254331 1254331 C T rs774019400 MUC5B Synonymous SNV A718A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.24 141969 chr1 97658680 97658680 G A rs752228747 DPYD Nonsynonymous SNV T856I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 141970 chr8 42977654 42977654 C T rs751085294 POMK Synonymous SNV D229D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.48 141971 chr8 442591 442591 G T rs201124259 TDRP Nonsynonymous SNV D122E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.396 141972 chr1 37975121 37975121 G T rs541032998 MEAF6 Synonymous SNV R77R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.74 141973 chr8 56363226 56363226 G A SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.925 141974 chr10 5136654 5136654 G C rs200791410 AKR1C3 Nonsynonymous SNV Q6H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 141975 chr20 2082795 2082795 G A STK35 Nonsynonymous SNV A90T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 141976 chr10 5437297 5437297 C T rs782085193 TUBAL3 Nonsynonymous SNV R90Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25 141977 chr2 234591075 234591075 C T rs560254383 UGT1A7 Synonymous SNV P164P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.841 141978 chr11 9043504 9043504 T C SCUBE2 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 141979 chr20 4768870 4768870 C T rs371941310 RASSF2 Synonymous SNV T228T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.32 141980 chr10 8006569 8006569 C G rs766950049 TAF3 Nonsynonymous SNV P366A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 141981 chr8 72755549 72755549 T C rs76480365 MSC-AS1 0 0 0.088 0 0 0 0 26 0 0 1 0 6.214 141982 chr11 4904031 4904031 T - rs775196985 OR51T1 I301Tfs*19 0 0 0 1 0 0 0.003 0 0 0 0 0 141983 chr11 4904032 4904032 C A rs746459093 OR51T1 Synonymous SNV I301I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.18 141984 chr11 14808013 14808013 T C PDE3B Nonsynonymous SNV S354P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 141985 chr11 16812452 16812452 C T rs749040830 PLEKHA7 Nonsynonymous SNV R982Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 141986 chr20 62608406 62608406 C T rs144027852 SAMD10 Synonymous SNV Q121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.614 141987 chr2 241569442 241569442 G A rs35146537 GPR35 Nonsynonymous SNV A25T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.759 141988 chr20 3277530 3277530 A G rs372640761 C20orf194 Synonymous SNV L666L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.448 141989 chr2 241682370 241682370 G A rs772443183 KIF1A Nonsynonymous SNV R1105W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 141990 chr1 46977767 46977767 G A rs115917561 DMBX1 Synonymous SNV L250L 0.003 0 0.007 4 4 0 0.01 2 0 0 0 0 9.604 141991 chr10 22016786 22016786 T C rs750728260 MLLT10 Synonymous SNV D664D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.055 141992 chr1 47904662 47904662 - CCGCAT FOXD2 H293_A294insPH 0.002 0 0 4 2 0 0.01 0 0 0 0 0 141993 chr1 48690397 48690397 C T rs568504882 SLC5A9 Nonsynonymous SNV S55L 0.003 0 0 4 3 0 0.01 0 0 0 0 0 31 141994 chr1 48694581 48694581 G A SLC5A9 Synonymous SNV G98G 0.003 0 0 4 3 0 0.01 0 0 0 0 0 15.48 141995 chr11 19207865 19207865 G C rs45582433 CSRP3 Nonsynonymous SNV P48R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 8.722 141996 chr9 101533233 101533233 G A rs369774566 ANKS6 Synonymous SNV G639G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.25 141997 chr10 26443733 26443733 C A MYO3A Nonsynonymous SNV T925K 0 0.003 0 0 0 1 0 0 0 0 0 0 35 141998 chr1 52863405 52863405 C T rs201789258 ORC1 Synonymous SNV P118P 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 15.76 141999 chr2 242163548 242163569 GCCAGCCAGCTGCAGCAGTGAC - rs544846502 ANO7 S875Wfs*31 0.002 0 0 0 2 0 0 0 0 0 0 0 142000 chr9 104125016 104125016 C T rs61756326 BAAT Synonymous SNV Q317Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.042 142001 chr20 32371629 32371629 G A rs751996184 ZNF341 Nonsynonymous SNV R514Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 142002 chr11 30902837 30902837 A G rs55719241 DCDC1 Nonsynonymous SNV S805P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 142003 chr11 30925058 30925058 T C rs34110661 DCDC1 Nonsynonymous SNV K601R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.217 142004 chr11 71726433 71726444 CCTGGAGCTGCT - NUMA1 E702_Q705del 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 142005 chr11 30926525 30926525 C T rs61747656 DCDC1 Nonsynonymous SNV A538T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28 142006 chr11 31086115 31086115 G T rs289080 DCDC1 Nonsynonymous SNV T831N 0.004 0.003 0.007 0 5 1 0 2 0 0 1 0 22.5 142007 chr11 73717342 73717342 C T rs58614015 UCP3 Nonsynonymous SNV R70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 142008 chr9 114454292 114454292 C T rs150006859 SHOC1 Nonsynonymous SNV R1219H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.926 142009 chr21 38610799 38610799 G C rs752773299 VPS26C Nonsynonymous SNV L57V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 142010 chr20 3844966 3844966 T C rs756707640 MAVS Nonsynonymous SNV L89P 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 27.7 142011 chr20 42164548 42164548 A G rs201339937 L3MBTL1 Nonsynonymous SNV R543G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.6 142012 chr1 62740064 62740064 C T rs145513555 KANK4 Nonsynonymous SNV V238M 0.002 0 0 0 2 0 0 0 0 0 0 0 6.126 142013 chr10 48414151 48414151 C A rs781821989 GDF2 Synonymous SNV T239T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.07 142014 chr1 64608314 64608314 G A rs138027299 ROR1 Synonymous SNV L385L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 9.626 142015 chr20 45867854 45867854 C T rs143086919 ZMYND8 Synonymous SNV T699T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.641 142016 chr21 30969992 30969992 A C rs184207234 GRIK1-AS2 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.643 142017 chr20 46307428 46307428 C T rs140200890 SULF2 Synonymous SNV P395P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.04 142018 chr1 65332620 65332620 C T rs373142876 JAK1 Nonsynonymous SNV G307S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.773 142019 chr9 119413852 119413852 A T rs141698863 ASTN2 Synonymous SNV R61R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.009 142020 chr1 68659849 68659849 G A rs150301835 WLS Synonymous SNV N54N 0.004 0 0 0 5 0 0 0 0 0 0 0 10.45 142021 chr11 6912893 6912893 G C rs150538963 OR2D2 Nonsynonymous SNV T280S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 142022 chr2 40342684 40342684 A G rs757506199 SLC8A1 Synonymous SNV N841N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 142023 chr1 74671074 74671074 C T rs55882158 FPGT Nonsynonymous SNV P461L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 25 142024 chr20 47888247 47888247 C T rs368724322 ZNFX1 Synonymous SNV Q34Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.645 142025 chr20 54824109 54824109 C T MC3R Synonymous SNV H70H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.759 142026 chr1 76199219 76199219 T C ACADM Nonsynonymous SNV L62P 0.003 0 0 0 3 0 0 0 0 0 0 0 18.51 142027 chr20 48808437 48808437 C G rs200365245 CEBPB Synonymous SNV R266R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.65 142028 chr9 125486686 125486686 T A rs149895531 OR1L4 Nonsynonymous SNV W140R 0 0 0.024 2 0 0 0.005 7 0 0 0 1 0.001 142029 chr21 37744709 37744709 C T rs199909082 MORC3 Nonsynonymous SNV S778L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.33 142030 chr1 7724697 7724697 C T rs111266786 CAMTA1 Nonsynonymous SNV A667V 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 16.83 142031 chr10 61443890 61443890 C T rs150304894 SLC16A9 Nonsynonymous SNV V54I 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 16.91 142032 chr11 95825378 95825386 TGCTGCTGC - MAML2 Q619_Q621del 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 142033 chr21 38997591 38997591 A G rs375800688 KCNJ6 Nonsynonymous SNV L381P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 142034 chr9 125872567 125872567 G A MIR600HG 0 0 0.003 0 0 0 0 1 0 0 0 0 5.171 142035 chr20 54970683 54970683 C T rs112830633 CSTF1 Synonymous SNV D25D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.41 142036 chr1 8073631 8073631 T C rs147428933 ERRFI1 Nonsynonymous SNV N343S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 142037 chr20 55020984 55020984 G C rs149841530 CASS4 Nonsynonymous SNV R109P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 19 142038 chr1 82409365 82409365 C T rs373380927 ADGRL2 Synonymous SNV Y370Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.844 142039 chr2 48573741 48573741 A G rs759338687 FOXN2 Nonsynonymous SNV N130D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23.9 142040 chr10 68526108 68526108 G T rs115276158 CTNNA3 Nonsynonymous SNV L399I 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Benign 26.4 142041 chr20 57766116 57766116 G A rs780058911 ZNF831 Synonymous SNV R14R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.65 142042 chr9 130279400 130279400 C T rs142510172 NIBAN2 Synonymous SNV Q254Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.55 142043 chr20 60773889 60773889 C T rs143002141 MTG2 Nonsynonymous SNV T223M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 29.6 142044 chr11 104866478 104866478 C T CASP5 Nonsynonymous SNV G291D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 142045 chr2 55119598 55119598 C T rs946139047 EML6 Synonymous SNV G849G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 142046 chr11 108352891 108352891 C T rs186063712 POGLUT3 Nonsynonymous SNV R248Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.4 142047 chr11 111635556 111635556 T C rs781823568 PPP2R1B Synonymous SNV G93G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.129 142048 chr11 111749737 111749737 C T rs200121963 FDXACB1 Synonymous SNV E40E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.241 142049 chr10 73039617 73039617 C T rs766127626 UNC5B Nonsynonymous SNV P40L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 142050 chr1 89847445 89847445 T G rs146250255 GBP6 Nonsynonymous SNV M225R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.44 142051 chr11 55904502 55904502 T C rs138320062 OR8J3 Synonymous SNV P231P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.567 142052 chr22 21411420 21411420 A G rs112526130 LRRC74B Synonymous SNV E318E 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 9.074 142053 chr11 113631080 113631080 C T ZW10 Nonsynonymous SNV C144Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 142054 chr22 21989154 21989154 C T rs28513567 CCDC116 Nonsynonymous SNV R268C 0.007 0 0.007 3 8 0 0.008 2 0 0 0 0 22.7 142055 chr11 17452471 17452471 G A rs147623093 ABCC8 Synonymous SNV A569A 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.72 142056 chr21 46131386 46131386 G A rs150107590 TSPEAR Nonsynonymous SNV A15V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign/Likely benign 0.007 142057 chr1 92642962 92642962 A G rs150184313 KIAA1107 Nonsynonymous SNV I225V 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 0.001 142058 chr21 46897666 46897666 C T rs372133935 COL18A1 Synonymous SNV G516G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.48 142059 chr9 134349958 134349958 A C rs200268888 PRRC2B Synonymous SNV A814A 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 0.23 142060 chr20 61867546 61867546 G A rs61737391 BIRC7 Nonsynonymous SNV R33H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 142061 chr20 61873945 61873945 G A rs80100531 NKAIN4 Nonsynonymous SNV P126L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 142062 chr11 56143560 56143560 T C rs201628553 OR8U1, OR8U8 Nonsynonymous SNV L154P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 142063 chr9 135447856 135447856 C T rs199991031 CFAP77 Nonsynonymous SNV R272C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 142064 chr20 62369647 62369647 G A rs201305489 LIME1 Nonsynonymous SNV R127Q 0.009 0.013 0 3 10 5 0.008 0 0 0 0 0 7.477 142065 chr21 47769655 47769655 A G PCNT Nonsynonymous SNV D304G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.2 142066 chr11 118377355 118377355 G A rs148022594 KMT2A Nonsynonymous SNV G3583D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.121 142067 chr22 24583364 24583364 C T rs138755052 SUSD2 Nonsynonymous SNV R613C 0.002 0 0 0 2 0 0 0 0 0 0 0 23 142068 chr20 62198815 62198815 C T rs373797279 HELZ2 Synonymous SNV P63P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 142069 chr22 26057581 26057581 C T rs774287433 GRK3 Synonymous SNV R101R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 142070 chr20 8862429 8862429 A G rs186429469 PLCB1 Nonsynonymous SNV H1195R 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 12 142071 chr9 138418353 138418353 G A rs974845980 LCN1 Nonsynonymous SNV G231D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.157 142072 chr20 62670108 62670108 C A rs781113682 C20orf204 Nonsynonymous SNV S189Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.66 142073 chr20 62729272 62729272 G A rs61742883 OPRL1 Synonymous SNV P112P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.05 142074 chr9 138670290 138670290 A G rs149804567 KCNT1 Nonsynonymous SNV E803G 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign/Likely benign 24.9 142075 chr9 138754415 138754415 G A rs77279694 CAMSAP1 Nonsynonymous SNV P236S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 27.5 142076 chr11 31349715 31349715 T C rs780898890 DCDC1 Nonsynonymous SNV D38G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.699 142077 chr2 74702498 74702498 A G rs138725502 CCDC142 Synonymous SNV G550G 0.004 0 0 0 5 0 0 0 0 0 0 0 0.005 142078 chr21 30434854 30434854 C T rs760742565 CCT8 Nonsynonymous SNV R249Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 142079 chr11 44095050 44095050 C G rs2018795 ACCS Nonsynonymous SNV D134E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 142080 chr9 139929322 139929322 G A rs201817902 C9orf139 Nonsynonymous SNV G130E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.98 142081 chr11 44331288 44331299 GCTGCGGCTGCG - rs201777848 ALX4 P105_Q108del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 142082 chr21 34923808 34923808 G A rs147224438 SON Synonymous SNV A757A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 4.841 142083 chr22 21385819 21385819 G A rs141011552 SLC7A4 Nonsynonymous SNV R95C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 142084 chr11 46637208 46637208 G A rs200844501 HARBI1 Nonsynonymous SNV P194S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.2 142085 chr11 57080733 57080733 C T rs143633625 TNKS1BP1 Nonsynonymous SNV E477K 0.003 0 0 0 3 0 0 0 0 0 0 0 34 142086 chr11 46831050 46831050 C T rs200668108 CKAP5 Nonsynonymous SNV G255D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.8 142087 chr2 8890422 8890422 C T rs370476082 KIDINS220 Synonymous SNV A1079A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.16 142088 chr21 36080312 36080312 A C CLIC6 Nonsynonymous SNV K519Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 142089 chr11 124509621 124509621 T C rs763388631 SIAE Nonsynonymous SNV D370G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.91 142090 chr11 57583392 57583392 C T rs773613029 CTNND1 Synonymous SNV D810D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 142091 chr11 47707514 47707514 G T rs757437006 AGBL2 Nonsynonymous SNV N573K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.55 142092 chr9 141012439 141012439 G A rs761038215 CACNA1B Nonsynonymous SNV G1940D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 142093 chr21 38092160 38092160 T C rs147054081 SIM2 Synonymous SNV H129H 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 2.611 142094 chr22 24108412 24108412 G C rs9153 CHCHD10 Stop gain Y111X 0.005 0.01 0 5 6 4 0.013 0 0 0 0 0 Uncertain significance 35 142095 chr22 24562617 24562617 G A rs375275130 CABIN1 Nonsynonymous SNV R1623H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.02 142096 chr9 20354876 20354876 A T MLLT3 Nonsynonymous SNV I475N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 142097 chr3 10094159 10094159 A G rs145522204 FANCD2 Nonsynonymous SNV N545S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign/Likely benign 0.03 142098 chr11 125850943 125850943 C A rs374564199 CDON 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Uncertain significance 27.8 142099 chr9 21077313 21077313 G A rs148103065 IFNB1 Stop gain R186X 0 0 0.003 0 0 0 0 1 0 0 0 0 33 142100 chr3 101571963 101571963 A G rs370141285 NFKBIZ Nonsynonymous SNV E198G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 142101 chr11 60687228 60687228 C T TMEM109 Synonymous SNV V21V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 142102 chr21 43281777 43281777 C T rs144911690 PRDM15 Synonymous SNV G262G 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 8.227 142103 chr9 3262956 3262956 A C rs375489257 RFX3 Synonymous SNV R528R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.859 142104 chr21 43412445 43412445 T C ZBTB21 Nonsynonymous SNV N587S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 142105 chr20 3028412 3028412 A C rs145195220 MRPS26 Nonsynonymous SNV N172T 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 23.3 142106 chr10 105218049 105218049 G A rs374917382 CALHM1 Nonsynonymous SNV R154C 0 0.008 0 0 0 3 0 0 0 0 0 0 24.6 142107 chr11 61018732 61018732 C T rs2286878 PGA5 Synonymous SNV V382V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.88 142108 chr11 61313619 61313619 G A rs969470690 SYT7 Synonymous SNV D108D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.639 142109 chr11 61897831 61897831 C T rs571110517 INCENP Nonsynonymous SNV R278W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 142110 chr10 108389050 108389050 C T rs201889963 SORCS1 Nonsynonymous SNV V858I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.53 142111 chr9 36583642 36583642 A G rs114617403 MELK Nonsynonymous SNV K26R 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Benign 28.7 142112 chr10 112572512 112572512 A G rs561904103 RBM20 Nonsynonymous SNV D786G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 22.9 142113 chr11 62299546 62299546 G A rs114762806 AHNAK Synonymous SNV S781S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.334 142114 chr3 113010551 113010551 T C rs369806513 CFAP44 Synonymous SNV R1806R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.012 142115 chr10 115381633 115381633 T G rs148115930 NRAP Nonsynonymous SNV S886R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 28.6 142116 chr21 45929192 45929192 G A rs115847549 TSPEAR Synonymous SNV Y548Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.825 142117 chr9 4719239 4719239 G C AK3 Nonsynonymous SNV L74V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 142118 chr22 32352215 32352215 C G rs61752252 YWHAH Synonymous SNV S59S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 10.51 142119 chr9 5720732 5720732 A C rs748817341 RIC1 Synonymous SNV S234S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.639 142120 chr9 5742888 5742888 A G rs75782093 RIC1 Synonymous SNV G307G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.596 142121 chr9 5769243 5769243 A G rs766345043 RIC1 Synonymous SNV G1100G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.97 142122 chr9 5832863 5832863 C T rs779038226 ERMP1 Synonymous SNV G55G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.66 142123 chr10 116064630 116064630 T A AFAP1L2 Nonsynonymous SNV N378Y 0 0.01 0 0 0 4 0 0 0 0 0 0 24.2 142124 chr9 71155629 71155629 G A rs747748403 TMEM252 Synonymous SNV F34F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.637 142125 chr20 3640838 3640838 G A GFRA4 Synonymous SNV N262N 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.235 142126 chr22 36681937 36681937 G A rs369135992 MYH9 Synonymous SNV D1708D 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 5.478 142127 chr21 47544599 47544599 G A rs147158850 COL6A2 Nonsynonymous SNV R569Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 35 142128 chr21 47571880 47571880 C T rs61729373 FTCD Nonsynonymous SNV E128K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 16.79 142129 chr20 40049586 40049586 T C rs41278114 CHD6 Nonsynonymous SNV T1897A 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 0.001 142130 chr20 40049873 40049873 T C rs56144026 CHD6 Nonsynonymous SNV N1801S 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 0.001 142131 chr20 40050314 40050314 G A rs41278118 CHD6 Nonsynonymous SNV S1654F 0.007 0.003 0.007 2 8 1 0.005 2 0 0 0 0 23.5 142132 chr11 64786177 64786177 G A rs747084254 ARL2 Nonsynonymous SNV R104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 142133 chr22 50633430 50633430 G A rs750662262 TRABD Synonymous SNV Q127Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 9.165 142134 chr22 50705821 50705821 G A rs2066762 MAPK11 Synonymous SNV Y132Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.774 142135 chr22 41973406 41973406 A G rs201978477 PMM1 Synonymous SNV T235T 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 4.294 142136 chr11 65320428 65320428 G A rs762455737 LTBP3 Synonymous SNV G363G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 142137 chr22 50757411 50757411 G A rs570566670 DENND6B Nonsynonymous SNV R67W 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 29.5 142138 chr22 18355559 18355559 A G MICAL3 Nonsynonymous SNV L856P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.81 142139 chr22 43089753 43089753 G A rs144889067 A4GALT Nonsynonymous SNV P69S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.011 142140 chr22 50945270 50945270 G A rs140269914 LMF2 Nonsynonymous SNV P72S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 2.132 142141 chr9 99272073 99272073 T C rs376369522 CDC14B 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 142142 chrUn_gl000220 118418 118418 - GG RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 142143 chrUn_gl000220 118432 118432 - GT RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 142144 chr20 44806743 44806743 G A rs140243551 CDH22 Nonsynonymous SNV P586L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 142145 chr12 10868344 10868344 G A rs757920407 YBX3 Synonymous SNV R133R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.47 142146 chrUn_gl000224 102502 102505 CTCC - LOC100505874 0 0 0.003 0 0 0 0 1 0 0 0 0 142147 chrUn_gl000224 102518 102518 T C LOC100505874 0 0 0.003 0 0 0 0 1 0 0 0 0 142148 chrUn_gl000224 102544 102544 - G LOC100505874 0 0 0.007 0 0 0 0 2 0 0 0 0 142149 chrUn_gl000224 102545 102545 A G LOC100505874 0 0 0.007 0 0 0 0 2 0 0 0 0 142150 chrUn_gl000224 102554 102554 T C LOC100505874 0 0 0.007 0 0 0 0 2 0 0 0 0 142151 chrUn_gl000224 102569 102569 G C LOC100505874 0 0 0.007 0 0 0 0 2 0 0 0 0 142152 chrUn_gl000224 102570 102570 G A LOC100505874 0 0 0.007 0 0 0 0 2 0 0 0 0 142153 chrUn_gl000224 102573 102573 C G LOC100505874 0 0 0.007 0 0 0 0 2 0 0 0 0 142154 chrUn_gl000224 102581 102581 T C LOC100505874 0 0 0.003 0 0 0 0 1 0 0 0 0 142155 chrUn_gl000224 102582 102582 G A LOC100505874 0 0 0.003 0 0 0 0 1 0 0 0 0 142156 chr11 66627638 66627638 C T rs199623957 LRFN4 Nonsynonymous SNV A627V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 16.44 142157 chrX 107978576 107978576 T G rs775673041 IRS4 Synonymous SNV A333A 0 0 0.007 0 0 0 0 2 0 0 1 0 5.323 142158 chr11 67203619 67203619 C T rs370062028 PTPRCAP Nonsynonymous SNV R69H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 142159 chr22 22041281 22041281 C T rs763736700 PPIL2 Synonymous SNV C297C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 142160 chr10 135011869 135011869 G A rs140228817 KNDC1 Synonymous SNV G645G 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 7.21 142161 chr20 48431566 48431566 T C rs536021956 SLC9A8 Synonymous SNV H16H 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.208 142162 chr2 103040847 103040847 A G rs778872377 IL18RAP Synonymous SNV A184A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.748 142163 chr10 135193867 135193867 C T rs143463492 PAOX Synonymous SNV A182A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.95 142164 chrX 120183085 120183085 G A rs201021827 GLUD2 Nonsynonymous SNV R516H 0 0 0.007 0 0 0 0 2 0 0 1 0 19.29 142165 chr22 50355389 50355389 C T rs765631776 PIM3 Synonymous SNV S182S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 142166 chr3 129325294 129325294 G A rs552472000 PLXND1 Synonymous SNV A63A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.811 142167 chr3 129407366 129407366 G A rs535698002 TMCC1 Synonymous SNV C3C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.6 142168 chr11 60666372 60666372 C T rs372158363 PRPF19 Nonsynonymous SNV R339H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 142169 chr11 60689600 60689600 G A rs770839903 TMEM109 Nonsynonymous SNV R232Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 142170 chr20 58467193 58467193 T C rs367901105 SYCP2 Nonsynonymous SNV Y739C 0.005 0 0 0 6 0 0 0 0 0 0 0 21.7 142171 chrX 152771326 152771326 C T rs146322407 BGN Synonymous SNV L119L 0.001 0.005 0.014 0 1 2 0 4 0 1 2 0 Benign 13.29 142172 chrX 153296074 153296074 G A rs61753014 MECP2 Nonsynonymous SNV P414L 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 22.9 142173 chr22 29611612 29611612 C T rs148348802 EMID1 Synonymous SNV C104C 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 18.23 142174 chr22 29629411 29629411 C G rs772239627 EMID1 Nonsynonymous SNV H287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 142175 chr22 29734997 29734997 T G rs772432076 AP1B1 Synonymous SNV S708S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 142176 chrX 153762634 153762634 G A rs5030868 G6PD Nonsynonymous SNV S218F 0.002 0 0.007 0 2 0 0 2 1 0 1 0 Pathogenic/Likely pathogenic 24.2 142177 chr2 120438837 120438837 C T rs770696647 TMEM177 Synonymous SNV G136G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.103 142178 chr12 27916023 27916023 A G rs201841703 MANSC4 Nonsynonymous SNV I224T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.514 142179 chr11 62396340 62396340 T C rs747288829 GANAB Nonsynonymous SNV N580S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 142180 chr11 62415016 62415016 G A INTS5 Nonsynonymous SNV R846C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 142181 chr2 127957065 127957065 G A rs144868331 CYP27C1 Stop gain R147X 0.003 0 0 0 4 0 0 0 0 0 0 0 35 142182 chr22 31520867 31520867 G A rs747436965 INPP5J Nonsynonymous SNV A48T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.819 142183 chr3 138347987 138347987 T C rs145920343 FAIM Synonymous SNV L127L 0.011 0 0.003 2 13 0 0.005 1 0 0 0 0 1.024 142184 chr11 62850784 62850784 G A SLC22A24 Stop gain R406X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 142185 chrX 37961637 37961637 T C rs144315180 SYTL5 Nonsynonymous SNV S369P 0.001 0 0.007 0 1 0 0 2 0 0 1 0 8.798 142186 chr2 128396918 128396918 T A rs775673470 LIMS2 Stop gain K170X 0.003 0 0 0 4 0 0 0 0 0 0 0 40 142187 chr2 128474778 128474778 T C rs140190785 WDR33 Synonymous SNV Q940Q 0.003 0 0 0 4 0 0 0 0 0 0 0 3.57 142188 chr2 128775469 128775469 C G SAP130 Nonsynonymous SNV D71H 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 29.2 142189 chr22 32110223 32110223 C G PRR14L Nonsynonymous SNV R1201T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 142190 chrX 47444707 47444707 G A rs140600134 TIMP1 Nonsynonymous SNV R102H 0 0 0.007 0 0 0 0 2 0 0 1 0 31 142191 chr22 32914209 32914209 C A rs140962261 SYN3 Nonsynonymous SNV Q476H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.6 142192 chrX 48847444 48847444 G A rs61735977 GRIPAP1 Nonsynonymous SNV P179L 0 0 0.007 0 0 0 0 2 0 0 1 0 0.027 142193 chr22 32108368 32108368 G T rs758434562 PRR14L Synonymous SNV G1819G 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 4.942 142194 chr22 36122724 36122724 C A rs73155887 APOL5 Nonsynonymous SNV S203R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.46 142195 chr11 92533499 92533499 G A FAT3 Synonymous SNV T2440T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.776 142196 chr3 148782625 148782625 T G rs61761956 HLTF Nonsynonymous SNV K340T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 142197 chr2 135676449 135676449 T G rs377346816 CCNT2 Nonsynonymous SNV S9A 0.003 0 0 0 3 0 0 0 0 0 0 0 24 142198 chr2 109392302 109392302 A G rs61758804 RANBP2 Nonsynonymous SNV I2803V 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Benign 0.002 142199 chrX 57313382 57313382 C T rs146874627 FAAH2 Nonsynonymous SNV R42W 0.003 0.005 0.014 0 4 2 0 4 0 0 1 0 Benign 23.8 142200 chrX 64772256 64772256 C T rs779085833 FRMD8P1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.741 142201 chr22 36155945 36155945 C T rs767329755 RBFOX2 Nonsynonymous SNV A296T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 142202 chr3 149498107 149498107 C T rs200616244 ANKUB1, ANKUB1 Nonsynonymous SNV V124M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.95 142203 chr22 37480820 37480820 G A rs986013317 TMPRSS6 Nonsynonymous SNV P345S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 142204 chr2 113737630 113737630 C A rs6707930 IL36G Nonsynonymous SNV Q34K 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 0.002 142205 chrX 84520196 84520196 G A ZNF711 Nonsynonymous SNV R284Q 0 0 0.007 0 0 0 0 2 0 0 1 0 27 142206 chr2 152383521 152383521 C T rs35625617 NEB Nonsynonymous SNV D5585N 0.011 0.003 0.003 1 13 1 0.003 1 0 0 0 0 Benign 35 142207 chr10 101964847 101964847 T C rs34458357 CHUK Synonymous SNV G447G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.758 142208 chr3 160804569 160804569 C T rs2231256 B3GALNT1 Nonsynonymous SNV G112S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.277 142209 chr3 160807847 160807847 A T rs34184112 B3GALNT1 Nonsynonymous SNV C71S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.298 142210 chr22 40365463 40365463 G A rs114611169 GRAP2 Nonsynonymous SNV G134S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.011 142211 chr22 40804825 40804825 C A rs190612662 SGSM3 Synonymous SNV T538T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 142212 chr22 40815256 40815256 C T rs34736200 MRTFA Nonsynonymous SNV A396T 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 0.615 142213 chr10 102778932 102778932 C T rs200592310 PDZD7 Nonsynonymous SNV S324N 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 29.6 142214 chr22 40366924 40366924 C T rs149718626 GRAP2 Nonsynonymous SNV R164W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 33 142215 chr22 41739451 41739451 G A rs73416822 ZC3H7B Nonsynonymous SNV G444S 0.014 0.005 0.01 0 16 2 0 3 0 0 0 0 21.5 142216 chr3 167322164 167322164 G A rs146804108 WDR49 Nonsynonymous SNV R10C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.04 142217 chr22 41832561 41832561 G A rs61736465 TOB2 Synonymous SNV N263N 0.014 0.005 0.014 0 16 2 0 4 0 0 0 0 Benign 0.041 142218 chr22 42084961 42084961 G A rs141701361 C22orf46 0.002 0 0 0 2 0 0 0 0 0 0 0 9.573 142219 chr22 42299122 42299122 G A rs556095599 SREBF2 Nonsynonymous SNV R1019H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 142220 chr3 172835469 172835469 T C rs115897458 SPATA16 Nonsynonymous SNV H18R 0.007 0 0 0 8 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 142221 chr3 173322479 173322479 C T rs764894337 NLGN1 Nonsynonymous SNV L31F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.794 142222 chr11 66636420 66636420 C T PC Nonsynonymous SNV A307T 0 0 0 1 0 0 0.003 0 0 0 0 0 35 142223 chr2 136399276 136399276 G A rs140932904 R3HDM1 Nonsynonymous SNV A408T 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 17.37 142224 chr11 67269812 67269812 C T rs754033705 PITPNM1 Synonymous SNV Q122Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 142225 chr3 182616525 182616525 C T rs532919083 ATP11B Stop gain R1095X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 142226 chr11 116692437 116692437 G A rs559427645 APOA4 Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 142227 chr3 184095941 184095941 G A rs897461635 THPO Nonsynonymous SNV P66L 0.002 0 0 0 2 0 0 0 0 0 0 0 14 142228 chr11 117117656 117117656 G A RNF214 Synonymous SNV K317K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 142229 chr11 72560875 72560875 G T rs767103922 FCHSD2 Nonsynonymous SNV F456L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.15 142230 chr10 11654041 11654041 T - LOC107984208 0 0 0.014 0 0 0 0 4 0 0 0 0 142231 chr2 152518817 152518817 G A rs139963368 NEB Synonymous SNV G1934G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 11.75 142232 chr2 152980363 152980363 G A rs77779120 STAM2 Synonymous SNV P422P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.956 142233 chr10 118969662 118969662 T C rs147749657 KCNK18 Nonsynonymous SNV F336S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 142234 chr22 50435784 50435784 G A rs142209556 IL17REL Nonsynonymous SNV R408C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.76 142235 chr11 75280006 75280006 C T rs61733248 SERPINH1 Synonymous SNV D248D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.7 142236 chr21 43954864 43954864 C T rs147578304 SLC37A1 Synonymous SNV S65S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 142237 chr2 163144674 163144674 G T rs150317197 IFIH1 Nonsynonymous SNV P356T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.759 142238 chr10 126370857 126370857 G A rs145746217 FAM53B Synonymous SNV D75D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.753 142239 chr21 44838414 44838414 G A rs144693254 SIK1, SIK1B Synonymous SNV V490V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 10.98 142240 chr11 85375824 85375824 G A rs61746267 CREBZF Synonymous SNV P32P 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 0.249 142241 chr21 45725250 45725250 G T rs770672858 PFKL Nonsynonymous SNV G17C 0.002 0 0 0 2 0 0 0 0 0 0 0 1.295 142242 chr2 169814579 169814579 T A ABCB11 Nonsynonymous SNV K746N 0 0.003 0 0 0 1 0 0 0 0 0 0 25 142243 chr3 195595041 195595041 C T rs761873521 TNK2 Nonsynonymous SNV G727S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 142244 chr21 46067105 46067105 G A rs782750299 KRTAP10-11 Nonsynonymous SNV V244M 0.001 0 0 0 1 0 0 0 0 0 0 0 22 142245 chr21 46320240 46320240 C T rs368371881 ITGB2 Nonsynonymous SNV E298K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.16 142246 chr21 46591556 46591556 T G ADARB1 Synonymous SNV P44P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 142247 chr2 171240263 171240263 C T MYO3B Nonsynonymous SNV P410L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 142248 chr3 197680975 197680975 G A rs145244860 RPL35A Nonsynonymous SNV R89Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 23.4 142249 chr11 94731403 94731403 C T rs151153150 KDM4D Synonymous SNV C289C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.841 142250 chr10 135012254 135012254 G A rs375314435 KNDC1 Nonsynonymous SNV A748T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.888 142251 chr2 10925075 10925075 G A rs148800384 PDIA6 Synonymous SNV D413D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.18 142252 chr2 197087061 197087061 T C rs16847486 HECW2 Synonymous SNV L984L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 2.043 142253 chr10 135061106 135061106 G A rs368130172 MIR202, MIR202HG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 142254 chr2 197878248 197878248 T C rs77830956 ANKRD44 Synonymous SNV P637P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.882 142255 chr3 367747 367747 C T rs536020096 CHL1 Nonsynonymous SNV T66I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.068 142256 chr2 179397352 179397352 G C rs775633719 TTN Nonsynonymous SNV L25599V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 142257 chr11 129728557 129728558 TT - rs758683108 TMEM45B L269Efs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 142258 chr2 179439665 179439665 C G rs747116393 TTN Nonsynonymous SNV G14667R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 142259 chr11 103191820 103191820 C T rs199705540 DYNC2H1 Nonsynonymous SNV R3930C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 142260 chr22 19028650 19028650 C T rs146218436 DGCR2 Synonymous SNV P398P 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 14.64 142261 chr10 19464206 19464206 G A rs868841434 MALRD1 Nonsynonymous SNV E634K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 142262 chr12 319067 319067 T A rs371007985 SLC6A12 Nonsynonymous SNV D29V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 142263 chr11 8953720 8953720 G A rs759784855 C11orf16 Nonsynonymous SNV P46S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 142264 chr11 111225244 111225244 C T rs137903095 POU2AF1 Synonymous SNV Q171Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 142265 chr11 9072169 9072169 C T SCUBE2 Synonymous SNV L512L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 142266 chr2 11798675 11798675 G A rs61753869 NTSR2 Nonsynonymous SNV P388L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.002 142267 chr2 206305264 206305264 C A PARD3B Nonsynonymous SNV S902Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26 142268 chr12 1292552 1292552 G C rs61758142 ERC1 Nonsynonymous SNV E708Q 0.004 0 0 0 5 0 0 0 0 0 0 0 25.1 142269 chr12 96912786 96912786 C T rs762379121 CFAP54 Synonymous SNV R293R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 142270 chr10 26589827 26589827 G A rs185314058 GAD2 Synonymous SNV A565A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.735 142271 chr2 120658328 120658328 T C rs61748154 PTPN4 Nonsynonymous SNV M237T 0.006 0.008 0.017 3 7 3 0.008 5 0 0 0 0 0.707 142272 chr12 98927025 98927025 C T rs371441559 TMPO Synonymous SNV C330C 0.003 0 0 0 3 0 0 0 0 0 0 0 8.841 142273 chr12 3127746 3127746 G A rs71534245 TEAD4 Synonymous SNV T44T 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 17.31 142274 chr10 29704320 29704320 C T rs193058483 SVIL-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.601 142275 chr11 114441997 114441997 A G rs763909088 NXPE4 Nonsynonymous SNV I433T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 142276 chr11 16824551 16824551 C T PLEKHA7 Nonsynonymous SNV E709K 0.001 0.008 0 0 1 3 0 0 0 0 0 0 34 142277 chr2 128784724 128784724 C A SAP130 Nonsynonymous SNV R5L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 142278 chr2 133175173 133175173 C T rs761871193 GPR39 Synonymous SNV H186H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.932 142279 chr12 104480729 104480729 T C rs369758343 HCFC2 Synonymous SNV L390L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.805 142280 chr12 6436644 6436644 G A rs754002278 PLEKHG6 Nonsynonymous SNV R600H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 142281 chr2 136547160 136547160 G A rs767789805 LCT Synonymous SNV H1848H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.527 142282 chr2 135744373 135744373 G A rs55867035 MAP3K19 Nonsynonymous SNV S577L 0.009 0.034 0.014 4 10 13 0.01 4 0 1 0 0 22.6 142283 chr11 118984807 118984807 C T rs199873574 C2CD2L Synonymous SNV D547D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.11 142284 chr10 43595999 43595999 C A rs145633958 RET Nonsynonymous SNV L56M 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.967 142285 chr22 29192178 29192178 C T rs1044899254 XBP1 Synonymous SNV G152G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 142286 chr12 110206825 110206825 C T rs377710576 FAM222A Nonsynonymous SNV A364V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 142287 chr11 20104682 20104682 A T rs139471930 NAV2 Nonsynonymous SNV T883S 0.006 0.013 0 5 7 5 0.013 0 0 0 0 0 1.3 142288 chr2 1481129 1481129 T C TPO Nonsynonymous SNV L364P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 27.7 142289 chr12 113424997 113424997 C T rs750962575 OAS2 Nonsynonymous SNV T111M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.814 142290 chr11 32623900 32623900 T A rs139971850 EIF3M Nonsynonymous SNV N228K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.4 142291 chr12 10074754 10074754 A G rs61747884 CLEC2A Nonsynonymous SNV S73P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 142292 chr12 10171039 10171039 G A rs199798254 CLEC12B Nonsynonymous SNV E264K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 142293 chr3 49146565 49146565 C T rs970216198 USP19 Synonymous SNV G1261G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.45 142294 chr2 207170137 207170137 G A rs745569023 ZDBF2 Synonymous SNV K295K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.581 142295 chr2 207509348 207509348 C A rs202031652 FAM237A Nonsynonymous SNV P130T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.93 142296 chr2 207527656 207527656 A G rs201792178 DYTN Nonsynonymous SNV M535T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.017 142297 chr2 207564537 207564537 C T rs113447424 DYTN Synonymous SNV P211P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.74 142298 chr2 207564562 207564562 T A rs112735024 DYTN Nonsynonymous SNV E203V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27 142299 chr3 49831263 49831263 T C rs560516344 CDHR4 Nonsynonymous SNV T486A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 142300 chr12 11214352 11214352 A C TAS2R46 Nonsynonymous SNV I181S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.497 142301 chr22 38161756 38161756 G A rs750320361 TRIOBP Nonsynonymous SNV R422Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 142302 chr12 12022904 12022907 GTGA - rs758414253 ETV6 0.001 0 0 0 1 0 0 0 0 0 0 0 142303 chr12 12279793 12279793 C A rs139480047 LRP6 Nonsynonymous SNV V1382F 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Likely benign 22.7 142304 chr2 225266257 225266257 G C rs535939382 FAM124B Nonsynonymous SNV P77A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 142305 chr22 39497406 39497406 C T rs77993299 APOBEC3H Synonymous SNV G105G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.4 142306 chr2 169757933 169757933 A G rs375350062 G6PC2 Nonsynonymous SNV N31S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 142307 chr2 21232128 21232128 G A rs72653093 APOB Synonymous SNV L2538L 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.901 142308 chr2 228416779 228416779 T C AGFG1 Nonsynonymous SNV F455L 0.003 0 0 0 3 0 0 0 0 0 0 0 31 142309 chr11 126319031 126319031 G T rs200243864 KIRREL3 Synonymous SNV I290I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 10.99 142310 chr2 228881463 228881463 A G rs144202259 SPHKAP Synonymous SNV D1369D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.091 142311 chr2 228881929 228881929 C T rs780995075 SPHKAP Nonsynonymous SNV R1214Q 0.003 0 0 0 3 0 0 0 0 0 0 0 17.07 142312 chr2 230450581 230450581 G A DNER Synonymous SNV H280H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.827 142313 chr2 172291658 172291658 A G rs200189652 DCAF17 Synonymous SNV G64G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.86 142314 chr2 172809472 172809472 C T rs767179896 HAT1 Nonsynonymous SNV R88C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 142315 chr10 72520374 72520374 G A rs963836635 ADAMTS14 Nonsynonymous SNV G1146D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.652 142316 chr22 43026924 43026924 G A rs150701311 CYB5R3 Synonymous SNV S99S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 2.658 142317 chr3 56330063 56330063 T A rs75898504 ERC2 Nonsynonymous SNV N353I 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 18.2 142318 chr10 73537657 73537657 T C rs397517334 CDH23 Nonsynonymous SNV M1689T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.392 142319 chr2 234474073 234474073 A - USP40 I43Tfs*65 0.001 0 0 0 1 0 0 0 0 0 0 0 142320 chr2 179436223 179436223 T C rs933323916 TTN Nonsynonymous SNV Y15814C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.67 142321 chr2 219611871 219611871 G A rs115789963 TTLL4 Nonsynonymous SNV R707H 0.006 0.003 0 0 7 1 0 0 0 0 0 0 33 142322 chr2 179469716 179469716 T C rs397517617 TTN Nonsynonymous SNV Y8998C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.05 142323 chr12 1984419 1984419 A T CACNA2D4 Nonsynonymous SNV S602T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 142324 chr2 179567360 179567360 T C TTN Nonsynonymous SNV Q8841R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 142325 chr12 3388180 3388180 T C rs372816436 TSPAN9 Nonsynonymous SNV I93T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.44 142326 chr2 220087021 220087021 C T rs576908856 ATG9A Nonsynonymous SNV R667Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.6 142327 chr12 40716270 40716270 C A rs72547980 LRRK2 Nonsynonymous SNV Q1823K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.915 142328 chr13 21742433 21742433 C T rs755391347 SKA3 Nonsynonymous SNV S146N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.154 142329 chr12 4737658 4737658 G A AKAP3 Nonsynonymous SNV A137V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 142330 chr2 18113391 18113391 C G KCNS3 Synonymous SNV G372G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.177 142331 chr12 5744450 5744450 G A rs201631550 ANO2 Synonymous SNV L562L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.75 142332 chr12 46320956 46320956 C T rs11574972 SCAF11 Nonsynonymous SNV R843Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 142333 chr10 91465171 91465171 A G rs148827788 KIF20B Synonymous SNV E40E 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.341 142334 chr10 93576940 93576940 G A TNKS2 Synonymous SNV R158R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 142335 chr10 95113643 95113643 C T rs36032890 MYOF Nonsynonymous SNV V1123I 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign 22.8 142336 chr2 183995175 183995175 G T rs146566850 NUP35 Nonsynonymous SNV A81S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 142337 chr10 95157206 95157206 G A rs760821493 MYOF Nonsynonymous SNV T410I 0 0 0.007 0 0 0 0 2 0 0 0 0 28.5 142338 chr22 50750676 50750676 G A DENND6B Synonymous SNV G550G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.891 142339 chr2 223168793 223168793 C T rs545278450 CCDC140 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.9 142340 chr3 9988679 9988679 C T rs367612791 PRRT3 Synonymous SNV K726K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.991 142341 chr12 49230571 49230571 T C rs200123209 DDX23 Synonymous SNV R339R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.764 142342 chr10 97423935 97423935 A G rs761610407 TCTN3 Synonymous SNV F423F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.003 142343 chr2 227872293 227872293 A G COL4A4 Synonymous SNV A1607A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.133 142344 chr2 189851809 189851809 T A rs756125442 COL3A1 Nonsynonymous SNV Y158N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Uncertain significance 23 142345 chr2 187558912 187558912 C T rs141884179 FAM171B Synonymous SNV L4L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.16 142346 chr10 99770897 99770897 C G CRTAC1 Synonymous SNV A74A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 142347 chr2 232458027 232458027 T C rs148284031 TEX44 Nonsynonymous SNV V122A 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 0.192 142348 chr13 39550707 39550707 G A rs139159531 STOML3 Nonsynonymous SNV R67C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 142349 chr2 191077789 191077789 T C HIBCH Nonsynonymous SNV M302V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 142350 chr12 10124287 10124287 G A rs148336258 CLEC12A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.2 142351 chr12 52651996 52651996 C A rs150823320 KRT87P 0.016 0.01 0.024 6 19 4 0.015 7 0 0 0 0 18.12 142352 chr11 56431606 56431606 T G rs923168064 OR5AR1 Nonsynonymous SNV Y149D 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 24.1 142353 chr2 109964330 109964330 G A rs182492853 SH3RF3 Synonymous SNV P258P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.853 142354 chr11 1017458 1017459 AG - rs768723819 MUC6 P1781Rfs*129 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 142355 chr11 1017470 1017605 GCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTGGTC - MUC6 T1733Pfs*71 0 0.003 0.003 0 0 1 0 1 0 0 0 0 142356 chr11 1017609 1017631 CTGGTGGTCACTGTCATTGGTGG - MUC6 P1724Wfs*10 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 142357 chr11 1017639 1017639 G A MUC6 Nonsynonymous SNV T1721I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.022 142358 chr11 1017654 1017654 G A MUC6 Nonsynonymous SNV P1716L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.754 142359 chr11 1017669 1017669 G A rs757961614 MUC6 Nonsynonymous SNV T1711I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.12 142360 chr11 1017679 1017679 A G rs111294390 MUC6 Nonsynonymous SNV S1708P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.103 142361 chr11 1017684 1017684 G A rs112886536 MUC6 Nonsynonymous SNV A1706V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.687 142362 chr13 51854595 51854595 G A rs140930007 FAM124A Nonsynonymous SNV V282M 0.003 0.003 0.014 1 3 1 0.003 4 0 0 1 0 11.67 142363 chr2 11761115 11761115 G A rs372140002 GREB1 Nonsynonymous SNV E1377K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 142364 chr2 30985977 30985977 G A rs17010210 CAPN13 Nonsynonymous SNV H249Y 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 24.6 142365 chr11 57466833 57466833 C T ZDHHC5 Nonsynonymous SNV A642V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.45 142366 chr11 57507705 57507705 G A rs144686377 TMX2 Synonymous SNV K255K 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 12.47 142367 chr2 20455085 20455085 A T rs141923685 PUM2 Synonymous SNV T801T 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 5.059 142368 chr2 32340779 32340779 G A rs145264166 SPAST Synonymous SNV P260P 0.011 0.01 0 3 13 4 0.008 0 0 0 0 0 Benign/Likely benign 11.78 142369 chr2 122182791 122182791 C T rs149355721 CLASP1 Synonymous SNV P712P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 17.7 142370 chr2 127453628 127453628 G A rs541336342 GYPC Synonymous SNV T80T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 142371 chr11 10514916 10514916 G A rs75283041 AMPD3 Synonymous SNV A161A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 13.74 142372 chr2 216209531 216209531 C T rs10175961 ATIC Synonymous SNV I419I 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Likely benign 19.38 142373 chr2 133541879 133541879 T C rs375764699 NCKAP5 Synonymous SNV K835K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.39 142374 chr2 209358001 209358001 G A rs201147145 PTH2R Nonsynonymous SNV V221M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.7 142375 chr12 56082732 56082732 G A rs758865138 ITGA7 Nonsynonymous SNV R504W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 142376 chr11 110036378 110036378 T C rs61756698 ZC3H12C Synonymous SNV I856I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 142377 chr11 110451420 110451420 C T rs113247068 ARHGAP20 Synonymous SNV Q727Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.276 142378 chr2 141243019 141243019 T C rs145983879 LRP1B Synonymous SNV T3106T 0.003 0 0 0 3 0 0 0 0 0 0 0 5.582 142379 chr12 30906588 30906588 G A CAPRIN2 Nonsynonymous SNV P37L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 142380 chr4 152637229 152637229 G A rs150296974 GATB Nonsynonymous SNV A232V 0.009 0.01 0.003 6 10 4 0.015 1 0 1 0 0 34 142381 chr2 219757826 219757826 A C rs34972707 WNT10A Nonsynonymous SNV N363H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 142382 chr2 148674896 148674896 T G ACVR2A Synonymous SNV P131P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.761 142383 chr2 220039710 220039710 C T CNPPD1 Nonsynonymous SNV M127I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 27.6 142384 chr11 113105781 113105781 G T NCAM1 Nonsynonymous SNV V564L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 142385 chr12 57922970 57922970 C T rs138744350 MBD6 Nonsynonymous SNV R989C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 142386 chr2 220349783 220349783 C T rs556479231 SPEG Nonsynonymous SNV S2533L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 142387 chr2 220366742 220366742 T C GMPPA Synonymous SNV L138L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 3.13 142388 chr12 58180063 58180063 G A TSFM Nonsynonymous SNV V117I 0.001 0 0 0 1 0 0 0 0 0 0 0 25 142389 chr2 26916010 26916010 C A KCNK3 Synonymous SNV T89T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 142390 chr2 15319147 15319147 C T rs150030853 NBAS Nonsynonymous SNV E2269K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.91 142391 chr12 45059368 45059368 C T rs140706152 NELL2 Nonsynonymous SNV R448H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 142392 chr12 64436711 64436711 C T rs201075531 SRGAP1 Nonsynonymous SNV R211W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 142393 chr2 157186042 157186042 A G rs769677341 NR4A2 Synonymous SNV A219A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.004 142394 chr2 219231810 219231810 C A CATIP Synonymous SNV I284I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 142395 chr12 48190056 48190056 C T rs148220732 HDAC7 Synonymous SNV T226T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 17.12 142396 chr2 158115386 158115386 A G GALNT5 Synonymous SNV E264E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.839 142397 chr2 220439645 220439645 C T rs145398632 INHA Synonymous SNV P166P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 2.688 142398 chr11 117100406 117100406 G A rs760741031 PCSK7 Nonsynonymous SNV P52L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 142399 chr11 64112034 64112034 C T rs956578408 CCDC88B Nonsynonymous SNV T674M 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 12.11 142400 chr12 49170029 49170029 A G rs143114060 ADCY6 Nonsynonymous SNV I547T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 26 142401 chr12 49420247 49420247 T C rs765387254 KMT2D Nonsynonymous SNV I5168V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.39 142402 chr12 77439887 77439887 T C E2F7 Nonsynonymous SNV K254E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 142403 chr2 162280028 162280028 - CGGGCG rs780720807 TBR1 G452_P453insAG 0.002 0 0.003 0 2 0 0 1 0 0 0 0 142404 chr12 50189650 50189650 G A rs371267490 NCKAP5L Synonymous SNV L665L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.442 142405 chr14 21863259 21863259 T C rs774271320 CHD8 Synonymous SNV P1734P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.216 142406 chr2 32740755 32740755 G A rs138598333 BIRC6 Nonsynonymous SNV R3756H 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 25.4 142407 chr2 32820207 32820207 G T BIRC6 Nonsynonymous SNV Q4536H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 142408 chr11 65346600 65346600 C T rs370785618 EHBP1L1 Synonymous SNV C52C 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 13.94 142409 chr11 65349625 65349625 C T rs372365243 EHBP1L1 Synonymous SNV D494D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 5.282 142410 chr11 65380941 65380941 G A rs763812821 MAP3K11 Nonsynonymous SNV P96L 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 29.6 142411 chr2 37480450 37480450 A G rs559394565 PRKD3 Nonsynonymous SNV I848T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 142412 chr2 167328849 167328849 C G SCN7A Nonsynonymous SNV D184H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 142413 chr11 65403865 65403865 A G rs531593831 PCNX3 Nonsynonymous SNV N1866S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.029 142414 chr12 88457770 88457770 C A CEP290 Nonsynonymous SNV L2086F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 142415 chr2 39088809 39088809 C T rs201534858 DHX57 Nonsynonymous SNV R146Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28 142416 chr14 23344264 23344264 G C rs201675483 LRP10 Nonsynonymous SNV R72S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.153 142417 chr11 65664313 65664313 C T rs151147129 FOSL1 Synonymous SNV P88P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 17.54 142418 chr2 172314941 172314941 T C rs199742600 DCAF17 Synonymous SNV T264T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.841 142419 chr2 17698984 17698984 T A rs781229058 RAD51AP2 Nonsynonymous SNV K233N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.98 142420 chr2 55181212 55181212 A C EML6 Nonsynonymous SNV N1469H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 142421 chr11 124972031 124972031 G A rs370333194 TMEM218 Nonsynonymous SNV A36V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 142422 chr12 104149145 104149145 C T rs367716332 STAB2 Synonymous SNV F2260F 0.003 0 0 0 3 0 0 0 0 0 0 0 12.72 142423 chr2 86707407 86707407 C G rs373927646 KDM3A Nonsynonymous SNV P812A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.91 142424 chr2 233131 233131 C - SH3YL1 C168Ffs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 142425 chr12 53185018 53185018 G A rs760545335 KRT3 Nonsynonymous SNV R503C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 142426 chr2 89049517 89049517 A G rs142341148 RPIA Synonymous SNV L286L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.924 142427 chr11 73007561 73007561 G A rs368625180 P2RY6 Nonsynonymous SNV A101T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.76 142428 chr11 73669374 73669374 C T rs149369852 DNAJB13 Synonymous SNV L27L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 14.9 142429 chr14 45696874 45696879 ATAAGT - rs770391426 MIS18BP1 D578_S580delinsA 0.004 0 0 0 5 0 0 0 0 0 0 0 142430 chr2 69708021 69708021 T C rs200287854 AAK1 Nonsynonymous SNV Q847R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 142431 chr2 179616210 179616210 G A rs140804168 TTN Synonymous SNV G3639G 0.009 0.005 0 5 10 2 0.013 0 0 0 0 0 Benign/Likely benign 12.64 142432 chr2 70387821 70387821 G C rs138062525 C2orf42 Synonymous SNV T484T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.91 142433 chr2 70406721 70406721 A G rs147618030 C2orf42 Nonsynonymous SNV S293P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.36 142434 chr2 238277210 238277210 C T rs115320732 COL6A3 Synonymous SNV R1025R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.499 142435 chr11 129742860 129742860 C G rs145520106 NFRKB Synonymous SNV T919T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.86 142436 chr2 239007817 239007817 G A UBE2F-SCLY 0.001 0 0 0 1 0 0 0 0 0 0 0 4.824 142437 chr11 130130889 130130889 A G rs760036004 ZBTB44 Synonymous SNV L294L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.07 142438 chr2 18112355 18112355 C A rs17851366 KCNS3 Nonsynonymous SNV S27Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 142439 chr2 239053602 239053602 G A rs752979473 KLHL30 Nonsynonymous SNV A323T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 142440 chr11 1331371 1331371 G A rs5743852 TOLLIP-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.401 142441 chr3 10280663 10280663 G A rs765849832 IRAK2 Nonsynonymous SNV V569M 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 0.775 142442 chr12 55886902 55886902 C T rs150231347 OR6C68 Synonymous SNV S247S 0.012 0.013 0.024 8 14 5 0.021 7 0 0 0 0 16.43 142443 chr12 117962713 117962713 G A rs764593853 KSR2 Synonymous SNV N721N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.953 142444 chr4 47427707 47427707 A G GABRB1 Nonsynonymous SNV N366S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.84 142445 chr12 56385153 56385153 G C rs201470751 RAB5B Nonsynonymous SNV A109P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 142446 chr2 84931383 84931383 G A rs372020176 DNAH6 Nonsynonymous SNV V2808I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 142447 chr2 85276673 85276673 T C KCMF1 Synonymous SNV S262S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.592 142448 chr2 85536276 85536276 G A rs141268521 TCF7L1 Synonymous SNV L486L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.852 142449 chr12 57550600 57550600 G A rs138966453 LRP1 Synonymous SNV P486P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.87 142450 chr12 57629373 57629373 C T rs754132078 NDUFA4L2 Synonymous SNV K79K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.919 142451 chr2 27682309 27682309 C T rs61747073 IFT172 Nonsynonymous SNV R908Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 21.5 142452 chr12 57868254 57868254 C A ARHGAP9 Nonsynonymous SNV A268S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 142453 chr11 19184951 19184951 G A rs183284767 ZDHHC13 Nonsynonymous SNV A274T 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Likely benign 10.72 142454 chr2 24291323 24291323 G A rs41281479 SF3B6 Synonymous SNV N52N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.34 142455 chr12 58204846 58204846 G A rs770023170 AVIL Nonsynonymous SNV R135W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 142456 chr12 124197169 124197169 G C ATP6V0A2 Synonymous SNV S19S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.44 142457 chr12 124268516 124268516 T C rs772107271 DNAH10 Nonsynonymous SNV I341T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 142458 chr2 201363667 201363667 G A rs139198109 KCTD18 Synonymous SNV D171D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 7.353 142459 chr2 201438266 201438266 A G rs143703632 SGO2 Nonsynonymous SNV E1066G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.5 142460 chr2 202164003 202164003 T C rs138471870 FLACC1 Synonymous SNV Q300Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.09 142461 chr12 70330063 70330063 C T rs61754225 MYRFL Synonymous SNV S664S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.34 142462 chr12 70330356 70330356 C T rs35051828 MYRFL Nonsynonymous SNV S723L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.281 142463 chr3 100119669 100119669 G A TOMM70 Nonsynonymous SNV A42V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 142464 chr3 10290995 10290995 G T rs376675075 TATDN2 Synonymous SNV R37R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.114 142465 chr14 73967287 73967287 C T rs927659000 HEATR4 Synonymous SNV L751L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.76 142466 chr2 207176196 207176196 G A rs370582691 ZDBF2 Nonsynonymous SNV R2315Q 0.003 0 0 0 4 0 0 0 0 0 0 0 9.131 142467 chr2 207509346 207509346 A G rs1009517087 FAM237A Nonsynonymous SNV Q129R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 142468 chr12 132516670 132516670 G A EP400 Nonsynonymous SNV R1976K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 142469 chr12 132549291 132549291 C T rs141078899 EP400 Nonsynonymous SNV P2805S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 142470 chr11 31669372 31669372 T C rs756234913 ELP4 Synonymous SNV T338T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.983 142471 chr4 74464428 74464428 G T RASSF6 Nonsynonymous SNV L25I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 142472 chr4 75041092 75041092 C T rs144134646 MTHFD2L Synonymous SNV S141S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.22 142473 chr3 124774643 124774643 C T rs186106404 HEG1 Nonsynonymous SNV R31Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.58 142474 chr13 21562990 21562990 C T rs370973977 LATS2 Nonsynonymous SNV G310E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.484 142475 chr13 21995296 21995296 G C rs201047829 ZDHHC20 Synonymous SNV T51T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.364 142476 chr13 23929979 23929979 T C SACS Nonsynonymous SNV K111E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.265 142477 chr2 216288975 216288975 C T rs149123808 FN1 Synonymous SNV T370T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.64 142478 chr12 97330409 97330409 C G rs773448236 NEDD1 Nonsynonymous SNV A158G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.1 142479 chr13 28122475 28122475 T A rs148603061 LNX2 Synonymous SNV V690V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.889 142480 chr3 11600852 11600852 G A rs370809228 VGLL4 Synonymous SNV S105S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.9 142481 chr12 101551065 101551065 G A rs113062899 SLC5A8 Nonsynonymous SNV R609C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 33 142482 chr12 101584369 101584369 A G rs758328668 SLC5A8 Nonsynonymous SNV L237S 0 0 0 1 0 0 0.003 0 0 0 0 0 30 142483 chr4 81967542 81967542 A C rs150626762 BMP3 Nonsynonymous SNV T323P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.085 142484 chr13 32878143 32878143 T C rs752010754 ZAR1L Nonsynonymous SNV H280R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.417 142485 chr2 62069342 62069342 A G rs757443871 FAM161A Synonymous SNV L113L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.14 142486 chr13 32906761 32906761 A T rs431825280 BRCA2 Nonsynonymous SNV K382N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.92 142487 chr12 104157386 104157386 G A rs143131786 STAB2 Synonymous SNV T2535T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 7.682 142488 chr2 220081416 220081416 G A rs57467915 ABCB6 Nonsynonymous SNV R230W 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Benign 32 142489 chr2 65245352 65245352 G A rs34416635 SLC1A4 Synonymous SNV A96A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.283 142490 chr2 220290404 220290404 G C rs985185092 DES Nonsynonymous SNV R436S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.31 142491 chr12 106632873 106632873 A C rs118008684 CKAP4 Nonsynonymous SNV L580V 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign 2.758 142492 chr2 54001623 54001623 G A rs373386939 CHAC2 Synonymous SNV K172K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 142493 chr2 54117312 54117312 G C rs376240260 PSME4 Nonsynonymous SNV L1409V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 142494 chr14 95899694 95899694 C T rs17092216 SYNE3 Nonsynonymous SNV R859H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.85 142495 chr14 95906276 95906276 G T rs144731675 SYNE3 Nonsynonymous SNV A683D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 142496 chr2 55546111 55546111 C T rs149298432 CCDC88A Synonymous SNV A1063A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 19.68 142497 chr2 56144999 56144999 G C rs369150030 EFEMP1 Nonsynonymous SNV S106R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.983 142498 chr3 122808056 122808056 G A rs565710424 PDIA5 Synonymous SNV S28S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.234 142499 chr2 71060783 71060783 G A rs571335450 CD207 Stop gain R187X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 142500 chr12 110221477 110221477 G A TRPV4 Synonymous SNV G748G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 142501 chr12 112622044 112622044 G C rs201553347 HECTD4 Nonsynonymous SNV L3586V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 142502 chr3 13612921 13612921 G A rs200487515 FBLN2 Nonsynonymous SNV V356M 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 6.651 142503 chr13 46802083 46802083 G A rs528014990 LRRC63 Nonsynonymous SNV M174I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.268 142504 chr13 48611918 48611918 A C rs61746486 NUDT15 Synonymous SNV P12P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 142505 chr3 125745278 125745278 C T SLC41A3 Synonymous SNV L130L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 142506 chr2 227920747 227920747 C T rs150979437 COL4A4 Nonsynonymous SNV R877Q 0.002 0.003 0.02 2 2 1 0.005 6 0 0 0 0 Conflicting interpretations of pathogenicity 9.424 142507 chr12 114384206 114384206 C T rs144388538 RBM19 Synonymous SNV S494S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 142508 chr3 126733397 126733397 A T rs757626138 PLXNA1 Nonsynonymous SNV E894V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 142509 chr3 127325046 127325046 G A rs35749886 MCM2 Synonymous SNV A253A 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 4.759 142510 chr11 4929351 4929351 A G rs200547969 OR51A7 Nonsynonymous SNV Y251C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 142511 chr13 75936346 75936346 C T rs755204418 TBC1D4 Nonsynonymous SNV R299Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 142512 chr13 76409449 76409449 G T rs182631787 LMO7 Nonsynonymous SNV D776Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 142513 chr2 9437536 9437536 G C ASAP2 Nonsynonymous SNV V103L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 142514 chr11 5364049 5364049 G C rs140543559 OR51B5 Nonsynonymous SNV L236V 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 21.8 142515 chr2 74166091 74166091 A T rs906420974 DGUOK Nonsynonymous SNV H66L 0.003 0 0 0 3 0 0 0 0 0 0 0 23 142516 chr2 74327623 74327623 G T rs750932724 TET3 Synonymous SNV V1143V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.067 142517 chr2 74394161 74394161 T C rs185153578 MOB1A Synonymous SNV P84P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.5 142518 chr2 74653642 74653642 C T rs145949653 RTKN Nonsynonymous SNV A474T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.018 142519 chr2 74902071 74902071 T C rs71418744 SEMA4F Nonsynonymous SNV V198A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.002 142520 chr2 234680984 234680984 T C UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Nonsynonymous SNV W461R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 142521 chr3 131186948 131186950 TTT - MRPL3 K293del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 142522 chr12 125397337 125397337 A G rs150274132 UBC Synonymous SNV I327I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.039 142523 chr11 55111389 55111389 G T rs535471161 OR4A16 Nonsynonymous SNV C238F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 142524 chr2 84924849 84924849 G A rs750599099 DNAH6 Nonsynonymous SNV E2559K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.13 142525 chr15 34640501 34640501 G A rs778831851 NUTM1 Synonymous SNV S134S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.12 142526 chr3 108672558 108672558 C A rs143174402 GUCA1C Stop gain E18X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 142527 chr2 86850940 86850940 C G RNF103 Nonsynonymous SNV G16R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.054 142528 chr12 7521563 7521563 - GA rs59576617 CD163L1 0.004 0.005 0 0 5 2 0 0 0 0 0 0 142529 chr13 109459038 109459038 G A rs537076680 MYO16 Synonymous SNV A251A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.392 142530 chr11 55703173 55703173 C G rs1044087521 OR5I1 Nonsynonymous SNV G235A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 142531 chr3 138666298 138666298 G C rs371206426 FOXL2NB Nonsynonymous SNV R31P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.2 142532 chr11 55735273 55735273 T C rs117203062 OR10AG1 Nonsynonymous SNV R223G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 142533 chr13 110437777 110437777 G T rs142923213 IRS2 Synonymous SNV G208G 0.011 0.008 0.007 6 13 3 0.015 2 1 0 0 0 2.515 142534 chr2 96780763 96780763 C T rs29000569 ADRA2B Nonsynonymous SNV V376I 0.002 0.005 0.014 0 2 2 0 4 0 0 0 0 Likely benign 25.3 142535 chr5 135272626 135272626 C T rs999308205 FBXL21P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.45 142536 chr3 113004367 113004367 G A rs184384636 BOC Nonsynonymous SNV D1039N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.67 142537 chr2 97217909 97217909 C T rs376362879 ARID5A Synonymous SNV A384A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.2 142538 chr13 20568020 20568020 G A rs752430586 ZMYM2 Nonsynonymous SNV V270I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 142539 chr3 100020971 100020971 C T TBC1D23 Stop gain Q385X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 142540 chr13 114060299 114060299 A C rs539114127 LOC101928841 Nonsynonymous SNV L736V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.543 142541 chr3 184003327 184003327 C T rs777283446 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV R375C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 35 142542 chr3 184096051 184096051 C T rs547811539 THPO Synonymous SNV K29K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.9 142543 chr3 185375092 185375092 G A rs199697480 IGF2BP2 Synonymous SNV F350F 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 14.77 142544 chr11 56185106 56185106 G A rs140917782 OR5R1 Synonymous SNV A201A 0.013 0.01 0.014 4 15 4 0.01 4 0 0 0 0 11.29 142545 chr3 186440270 186440270 G C rs373317608 KNG1 Synonymous SNV T117T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.127 142546 chr14 20846546 20846546 A T TEP1 Nonsynonymous SNV V1726D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 142547 chr13 28498687 28498687 A G PDX1 Nonsynonymous SNV E234G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.45 142548 chr11 56805462 56805462 G T rs181903682 OR5AK4P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 142549 chr15 52902434 52902434 G A rs368829523 FAM214A Nonsynonymous SNV T233M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 142550 chr12 25679744 25679744 A G rs76122503 LMNTD1 Nonsynonymous SNV F129L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.7 142551 chr12 25679841 25679841 G A rs35628916 LMNTD1 Synonymous SNV F96F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.086 142552 chr12 26985640 26985640 G A rs181236465 ITPR2 Synonymous SNV G25G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 13.68 142553 chr3 119530572 119530572 G A rs373024967 NR1I2 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 142554 chr3 183956435 183956435 C T rs966336218 VWA5B2 Nonsynonymous SNV S441L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 142555 chr3 19974913 19974913 C A rs747162397 EFHB Stop gain E200X 0.002 0 0 0 2 0 0 0 0 0 0 0 34 142556 chr3 25470339 25470339 A T RARB Synonymous SNV G39G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.432 142557 chr15 58000957 58000957 C T rs758938067 GCOM1, POLR2M Synonymous SNV D53D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.81 142558 chr13 46288135 46288135 C T CBY2 Synonymous SNV R298R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.012 142559 chr15 59519784 59519784 T C rs150716172 MYO1E Synonymous SNV K172K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.515 142560 chr3 122427094 122427094 C G PARP14 Nonsynonymous SNV P1200A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.003 142561 chr2 39213097 39213097 C A SOS1 Synonymous SNV P1290P 0.005 0 0 0 6 0 0 0 0 0 0 0 14.54 142562 chr3 38355325 38355325 G A rs116741759 SLC22A14 Nonsynonymous SNV R424Q 0.003 0.003 0.003 6 3 1 0.015 1 0 0 0 0 24.5 142563 chr5 149511636 149511636 C G rs2228439 PDGFRB Synonymous SNV L319L 0.006 0.008 0.007 4 7 3 0.01 2 0 0 0 0 Benign 10.02 142564 chr11 6048686 6048686 G A rs147711206 OR56A1 Synonymous SNV T83T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 142565 chr3 126071730 126071730 G A rs146618757 KLF15 Synonymous SNV F12F 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 8.472 142566 chr3 126126091 126126091 C T rs201722160 CFAP100 Synonymous SNV N42N 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 9.184 142567 chr3 126733329 126733329 C T rs80308004 PLXNA1 Synonymous SNV P871P 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 15.8 142568 chr3 137822681 137822681 G A rs188293055 DZIP1L Nonsynonymous SNV R45C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 142569 chr3 39185092 39185092 T C rs62635819 CSRNP1 Synonymous SNV E428E 0.003 0.003 0.007 5 3 1 0.013 2 0 0 0 0 0.012 142570 chr3 12849714 12849714 G A rs1041959577 CAND2 Nonsynonymous SNV G125R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.85 142571 chr3 195594921 195594921 C T rs373598238 TNK2 Nonsynonymous SNV D767N 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 28.5 142572 chr3 39229815 39229815 G T rs145889819 XIRP1 Synonymous SNV V374V 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 6.04 142573 chr3 39431918 39431918 A G rs34127778 SLC25A38 Nonsynonymous SNV R66G 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Likely benign 11.9 142574 chr12 49981444 49981444 G A rs150528924 FAM186B Nonsynonymous SNV R876W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.34 142575 chr2 61175228 61175228 C G rs770325223 PUS10 Nonsynonymous SNV Q244H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.68 142576 chr2 61719275 61719275 T C rs3816341 XPO1 Synonymous SNV K594K 0.009 0.003 0.003 2 10 1 0.005 1 0 0 0 0 6.83 142577 chr13 99537303 99537303 C T DOCK9 Synonymous SNV V769V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 142578 chr11 62291878 62291878 G A rs748138098 AHNAK Synonymous SNV S3337S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.432 142579 chr11 6245013 6245013 G A rs199875768 FAM160A2 Nonsynonymous SNV P202S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 142580 chr3 148917570 148917570 G A rs35331711 CP Nonsynonymous SNV P477L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 142581 chr5 159830388 159830388 C T SLU7 Nonsynonymous SNV M570I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.497 142582 chr13 103718492 103718492 C T rs141524545 SLC10A2 Synonymous SNV T36T 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 142583 chr12 52636843 52636843 G A rs10564 KRT7 Synonymous SNV R302R 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 Benign 9.957 142584 chr14 57268632 57268632 G A rs772782540 OTX2 Nonsynonymous SNV L239F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 142585 chr12 52708485 52708485 C T rs147359482 KRT83 Nonsynonymous SNV G471D 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 Benign 9.283 142586 chr11 63933390 63933390 G A rs528917108 MACROD1 Nonsynonymous SNV P26L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.9 142587 chr14 58563663 58563663 T C rs767129929 ARMH4 Nonsynonymous SNV D623G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 142588 chr5 167922369 167922369 G A RARS1 Nonsynonymous SNV G210D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 142589 chr12 52913695 52913695 C A rs758678109 KRT5 Nonsynonymous SNV G129V 0.009 0.013 0 2 10 5 0.005 0 0 0 0 0 26.1 142590 chr14 60041742 60041742 T C rs780165172 CCDC175 Synonymous SNV Q54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 142591 chr2 73114673 73114673 G A rs146099322 SPR Nonsynonymous SNV V38I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 16.33 142592 chr3 38622661 38622661 C T rs137854609 SCN5A Nonsynonymous SNV A997T 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 142593 chr13 113487199 113487199 C T ATP11A Nonsynonymous SNV A474V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 142594 chr12 53233644 53233644 C T rs201577513 KRT78 Nonsynonymous SNV R281Q 0.008 0.013 0 2 9 5 0.005 0 0 0 0 0 14.25 142595 chr11 65211735 65211758 TGTGTGTGTGTGTGTGTGTGTGTG - rs66756887 NEAT1 0 0 0.071 0 0 0 0 21 0 0 8 0 142596 chr2 74779714 74779714 C G LOXL3 Synonymous SNV L16L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.22 142597 chr2 75113788 75113788 C T rs146476722 HK2 Nonsynonymous SNV P736L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 26 142598 chr11 65270498 65270498 G A rs148133626 MALAT1, TALAM1 0 0 0.007 0 0 0 0 2 0 0 0 0 11.08 142599 chr15 85191825 85191825 C T rs764013056 WDR73 Nonsynonymous SNV R77H 0.002 0 0 0 2 0 0 0 0 0 0 0 19.87 142600 chr14 70175718 70175718 G - SUSD6 A262Pfs*39 0.001 0 0 0 1 0 0 0 0 0 0 0 142601 chr14 70989680 70989680 C T rs775376552 ADAM20 Nonsynonymous SNV G599R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 142602 chr2 86317035 86317035 G A rs187487275 POLR1A Synonymous SNV P150P 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.727 142603 chr14 72055024 72055024 G A rs141094104 SIPA1L1 Synonymous SNV P145P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.706 142604 chr12 55641338 55641338 C T rs776834121 OR6C74 Synonymous SNV T89T 0.009 0.013 0 0 10 5 0 0 0 0 0 0 11.71 142605 chr3 150460425 150460425 T C rs373248583 SIAH2 Nonsynonymous SNV I160V 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 0.168 142606 chr2 97527610 97527610 G A rs201412486 SEMA4C Nonsynonymous SNV R489C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 142607 chr3 54905620 54905620 G C rs748553700 CACNA2D3 Nonsynonymous SNV E561Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.2 142608 chr3 59999852 59999852 C T FHIT Nonsynonymous SNV V44M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 142609 chr3 169644805 169644805 G A SAMD7 Nonsynonymous SNV C252Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.016 142610 chr14 89084643 89084643 A G rs760188556 EML5 Synonymous SNV Y1857Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.859 142611 chr3 187444650 187444650 C T BCL6 Nonsynonymous SNV R526H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 142612 chr3 8673792 8673792 G A rs764401008 SSUH2 Nonsynonymous SNV R115C 0.006 0 0 3 7 0 0.008 0 0 0 0 0 34 142613 chr3 192053216 192053216 C T rs376292373 FGF12 Synonymous SNV V116V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.42 142614 chr11 71150069 71150069 G A rs267603172 DHCR7 Synonymous SNV I229I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 142615 chr3 193032832 193032832 C T rs74478656 ATP13A5 Nonsynonymous SNV R696H 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 32 142616 chr14 24646960 24646960 C T rs776970026 REC8 Nonsynonymous SNV P286L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.6 142617 chr11 71193059 71193059 G A rs147585323 NADSYN1 Nonsynonymous SNV V380M 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign 24.7 142618 chr14 24662162 24662162 C T rs777596265 TM9SF1 Nonsynonymous SNV R220H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22 142619 chr12 77449701 77449701 C T E2F7 Synonymous SNV R101R 0.002 0.003 0 7 2 1 0.018 0 0 0 0 0 15.99 142620 chr11 73744969 73744969 G A rs184111772 C2CD3 Nonsynonymous SNV T2079M 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 21.2 142621 chr3 113376119 113376119 - TGCTGC USF3 Q1478_A1479insQQ 0.003 0 0 1 3 0 0.003 0 0 0 0 0 142622 chr3 118865623 118865623 G A rs139845696 TEX55 Nonsynonymous SNV R196H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.032 142623 chr3 184612544 184612544 A G rs201387135 VPS8 Nonsynonymous SNV K599R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.14 142624 chr12 85694990 85694990 A G ALX1 Nonsynonymous SNV M240V 0.001 0.003 0 8 1 1 0.021 0 0 0 0 0 14.62 142625 chr3 9959753 9959753 G A rs143412184 IL17RC Nonsynonymous SNV V92M 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Likely benign 24.6 142626 chr12 88487689 88487694 GAAATG - rs760503950 CEP290 I1055_S1056del 0 0.003 0 0 0 1 0 0 0 0 0 0 142627 chr3 119379013 119379013 C T rs768683548 POPDC2 Synonymous SNV V86V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.293 142628 chr3 195936319 195936319 T G rs202031512 ZDHHC19 Nonsynonymous SNV Q112H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 142629 chr12 93181785 93181785 G C rs373054361 EEA1 Nonsynonymous SNV A1003G 0.008 0.005 0 0 9 2 0 0 0 0 0 0 17.63 142630 chr14 38218548 38218548 G T rs184767824 TTC6 Nonsynonymous SNV R939L 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 35 142631 chr14 39819309 39819309 T C MIA2 Synonymous SNV N654N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.643 142632 chr14 102500421 102500421 C A rs149496322 DYNC1H1 Nonsynonymous SNV L3508I 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 142633 chr4 100540153 100540153 T G MTTP Nonsynonymous SNV L774R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 142634 chr5 61604338 61604338 G A rs1017367055 KIF2A Nonsynonymous SNV G2S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.008 142635 chr14 102973978 102973978 G A rs368763411 ANKRD9 Synonymous SNV D83D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.736 142636 chr4 102117083 102117083 C T rs3730251 PPP3CA Synonymous SNV A83A 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 14.22 142637 chr3 122335878 122335878 C G rs150711162 PARP15 Synonymous SNV V55V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.474 142638 chr3 122647430 122647430 G A rs34231441 SEMA5B Synonymous SNV I132I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 13.35 142639 chr3 32180100 32180100 G A rs72552292 GPD1L Nonsynonymous SNV E83K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 23.1 142640 chr14 53341962 53341962 C G rs1130597 FERMT2 Synonymous SNV G359G 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 14.37 142641 chr11 92531509 92531509 G T FAT3 Nonsynonymous SNV S1777I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 142642 chr11 92531510 92531510 C T FAT3 Synonymous SNV S1777S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.12 142643 chr3 36898271 36898271 T G rs201891990 TRANK1 Nonsynonymous SNV Q937P 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.189 142644 chr16 2546493 2546493 G A rs201174513 TBC1D24 Nonsynonymous SNV R115H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 21.7 142645 chr11 94760132 94760132 G T rs61737617 KDM4E Nonsynonymous SNV V471F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.355 142646 chr12 109849725 109849725 T C rs778441773 MYO1H Synonymous SNV P463P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.23 142647 chr3 23250194 23250194 T C UBE2E2 Nonsynonymous SNV S2P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 142648 chr12 111856097 111856097 C T rs1013978345 SH2B3 Nonsynonymous SNV R50W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.5 142649 chr12 111893872 111893872 C T rs752905800 ATXN2 Synonymous SNV P928P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.7 142650 chr12 112632771 112632771 G T HECTD4 Synonymous SNV L2899L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.07 142651 chr12 113328777 113328777 G A rs140115309 RPH3A Nonsynonymous SNV A515T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 142652 chr16 4750986 4750986 G A rs142502357 ANKS3 Synonymous SNV P250P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.405 142653 chr3 128976693 128976693 G A rs77129536 COPG1 Synonymous SNV P287P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 3.539 142654 chr14 64580105 64580105 C T rs767658277 SYNE2 Nonsynonymous SNV A4219V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.28 142655 chr3 36874043 36874043 G A rs368440530 TRANK1 Nonsynonymous SNV P2300L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 142656 chr3 44328924 44328924 A C rs149078369 TOPAZ1 Synonymous SNV V1160V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 1.315 142657 chr3 36897277 36897277 C A rs191623295 TRANK1 Synonymous SNV T1268T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 142658 chr3 36897502 36897502 G A rs369684128 TRANK1 Synonymous SNV D1193D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.354 142659 chr3 37053550 37053550 G A rs2308317 MLH1 Nonsynonymous SNV V180M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 142660 chr12 106704931 106704931 C - TCP11L2 S26Rfs*35 0 0 0.003 0 0 0 0 1 0 0 0 0 142661 chr3 37149618 37149618 T A rs7340542 LRRFIP2 Synonymous SNV P110P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 142662 chr3 37366946 37366946 C T rs55988365 GOLGA4 Nonsynonymous SNV S1190F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 142663 chr3 37367850 37367850 A G rs57323471 GOLGA4 Synonymous SNV Q1491Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 142664 chr3 38039063 38039063 G A rs9872494 VILL Synonymous SNV P47P 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 12.51 142665 chr14 65008363 65008363 C A rs142168882 HSPA2 Nonsynonymous SNV L266M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 142666 chr12 120306954 120306954 - T CIT Frameshift insertion G50Rfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 142667 chr3 130284437 130284437 A G COL6A6 Nonsynonymous SNV R421G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 142668 chr12 109678956 109678956 A T rs1039065105 ACACB Nonsynonymous SNV E1631V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 142669 chr12 109843787 109843787 G A rs570225956 MYO1H Nonsynonymous SNV D288N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 142670 chr12 110340836 110340836 C T rs145451565 TCHP Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 142671 chr12 111296418 111296418 C T rs200794196 CCDC63 Stop gain Q30X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 142672 chr12 111375006 111375006 G A LINC01405 0 0 0.003 0 0 0 0 1 0 0 0 0 9.088 142673 chr4 139993098 139993098 T C rs146233495 ELF2 Nonsynonymous SNV T90A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.58 142674 chr4 119948546 119948546 C T rs865873740 SYNPO2 Nonsynonymous SNV S341L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 142675 chr12 112369505 112369505 G T rs147550432 TMEM116 Nonsynonymous SNV Q277K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 142676 chr15 41667934 41667934 C A NUSAP1 Nonsynonymous SNV T342N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 142677 chr12 123030798 123030798 G A rs748610461 KNTC1 Nonsynonymous SNV D249N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 142678 chr4 151186918 151186918 T C rs529665764 LRBA Nonsynonymous SNV N2838D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 26.8 142679 chr3 42568962 42568962 C T rs149397146 VIPR1 Synonymous SNV V111V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.54 142680 chr12 123920887 123920887 C G rs139435173 RILPL2 Synonymous SNV G27G 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 12.64 142681 chr12 113534664 113534664 T C DTX1 Nonsynonymous SNV Y595H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 142682 chr4 126238305 126238305 C A rs191329848 FAT4 Nonsynonymous SNV P247T 0.009 0.021 0.01 1 11 8 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 142683 chr15 42109850 42109850 G T MAPKBP1 Synonymous SNV V607V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.048 142684 chr4 154249791 154249791 T C rs772742492 TRIM2 Nonsynonymous SNV I684T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28 142685 chr3 44351369 44351369 T C rs772677963 TOPAZ1 Nonsynonymous SNV L1398S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 142686 chr15 42276751 42276751 C G PLA2G4E Nonsynonymous SNV D757H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 142687 chr14 77493771 77493794 TGCTGCTGCTGCTGCTGCTGCTGT - rs764897287 IRF2BPL Q120_Q127del 0 0 0 1 0 0 0.003 0 0 0 0 0 142688 chr3 148899824 148899824 G C rs56033670 CP Nonsynonymous SNV T841R 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.66 142689 chr3 50211316 50211316 G A rs985333083 SEMA3F Nonsynonymous SNV R68H 0.003 0 0 0 3 0 0 0 0 0 0 0 31 142690 chr15 43620723 43620760 CAGGAGCTGTTGCTCTTCAGGAAGAAGGATACTAGTAT - rs750974278 LCMT2 H643Pfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 142691 chr3 14958762 14958762 G A rs767070420 FGD5 Nonsynonymous SNV D1138N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 142692 chr4 159568122 159568122 G A rs267600062 RXFP1 Nonsynonymous SNV E461K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 142693 chr14 88429779 88429779 G A rs372793797 GALC Synonymous SNV Y347Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.154 142694 chr3 52433091 52433091 A G rs201156071 DNAH1 Synonymous SNV Q4105Q 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 Likely benign 0.102 142695 chr14 88945355 88945355 T C rs762908850 PTPN21 Nonsynonymous SNV Y807C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.495 142696 chr14 90651324 90651324 G A rs139846020 KCNK13 Nonsynonymous SNV A402T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 142697 chr15 45697649 45697649 C T SPATA5L1 Synonymous SNV D407D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 142698 chr15 45814414 45814414 G T SLC30A4 Synonymous SNV R47R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.113 142699 chr15 48764778 48764778 C T rs377338217 FBN1 Nonsynonymous SNV V1436M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 142700 chr12 124267721 124267721 G A rs761928291 DNAH10 Synonymous SNV P242P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.645 142701 chr3 47047289 47047289 G A rs375824892 NBEAL2 Synonymous SNV P2217P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.722 142702 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAAAAAAAAAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 142703 chr6 117869402 117869402 G A rs920955730 DCBLD1 Nonsynonymous SNV G650R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.909 142704 chr3 160167530 160167530 C T TRIM59-IFT80 0.001 0 0 0 1 0 0 0 0 0 0 0 9.326 142705 chr3 48310113 48310113 G A rs201451932 ZNF589 Nonsynonymous SNV R311Q 0.003 0 0 0 3 0 0 0 0 0 0 0 10.96 142706 chr3 48520627 48520627 C G rs369971951 SHISA5 Synonymous SNV S84S 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 8.413 142707 chr3 48563078 48563078 C T rs201998835 PFKFB4 Nonsynonymous SNV E331K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 142708 chr14 94521380 94521380 G C rs149275488 DDX24 Nonsynonymous SNV L714V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.144 142709 chr3 48631860 48631860 A G COL7A1 Synonymous SNV S69S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.191 142710 chr3 56661698 56661698 A C rs369764063 TASOR Synonymous SNV V877V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.495 142711 chr3 56675612 56675612 T C rs199785939 TASOR Nonsynonymous SNV K399R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 18.01 142712 chr3 57303581 57303581 C G APPL1 Nonsynonymous SNV Q666E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 142713 chr4 159790323 159790323 G A rs191624185 FNIP2 Synonymous SNV A491A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.904 142714 chr12 13153682 13153682 - G rs548158707 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 142715 chr3 50363853 50363853 T C rs782078033 TUSC2 Nonsynonymous SNV I68V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 142716 chr6 127765316 127765316 C - rs751287387 KIAA0408 A675Pfs*18 0.001 0 0 1 1 0 0.003 0 0 0 0 0 142717 chr12 132313098 132313098 - GCTGCCGCT rs559842978 MMP17 L23_P24insLPL 0.007 0.005 0.02 2 8 2 0.005 6 4 1 3 1 142718 chr13 24415598 24415598 G A rs186455816 MIPEP Nonsynonymous SNV P379L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 142719 chr4 167012437 167012437 G A rs749812318 TLL1 Nonsynonymous SNV R867Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 142720 chr6 129748998 129748998 A G LAMA2 Synonymous SNV K1989K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.429 142721 chr3 66436547 66436547 G A rs138398023 LRIG1 Synonymous SNV H549H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.915 142722 chr3 17202627 17202627 C T rs369061656 TBC1D5 Nonsynonymous SNV R603H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23 142723 chr3 172227062 172227062 T C rs146521859 TNFSF10 Synonymous SNV R121R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 2.422 142724 chr15 58971420 58971420 C A ADAM10 Nonsynonymous SNV Q129H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 142725 chr15 59963465 59963465 T C BNIP2 Nonsynonymous SNV I155M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 142726 chr4 186295517 186295517 A G rs199651134 LRP2BP Synonymous SNV Y143Y 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 2.003 142727 chr3 180466056 180466056 C G rs755123430 LOC101928882 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.21 142728 chr12 133365751 133365751 G A rs80194721 GOLGA3 Synonymous SNV H891H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.718 142729 chr12 133732974 133732974 A C ZNF10 Nonsynonymous SNV E381A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 142730 chr3 93845062 93845062 A G rs61730354 NSUN3 Nonsynonymous SNV I251V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.651 142731 chr3 182925519 182925519 A - MCF2L2 R864Dfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 142732 chr14 101348506 101348506 G C rs776369385 RTL1 Nonsynonymous SNV P874A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.47 142733 chr3 9426267 9426267 T C THUMPD3 Synonymous SNV G473G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.904 142734 chr13 32914782 32914782 C T rs80358866 BRCA2 Nonsynonymous SNV T2097M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.3 142735 chr14 104029361 104029361 A G rs190920873 COA8 Nonsynonymous SNV K8R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.612 142736 chr15 65624302 65624302 G A rs140742878 IGDCC3 Synonymous SNV H375H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.962 142737 chr12 2038641 2038641 G A rs111710435 LINC00940 0 0 0.014 0 0 0 0 4 0 0 0 0 0.498 142738 chr14 104381502 104381502 T A rs1053419 ATP5MPL Nonsynonymous SNV I9L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.215 142739 chr3 184021859 184021859 T G PSMD2 Nonsynonymous SNV F353C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 142740 chr4 185556561 185556561 T C rs35578277 CASP3 Nonsynonymous SNV H22R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.282 142741 chr14 104641779 104641779 C A rs7149578 KIF26A Nonsynonymous SNV S885Y 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 142742 chr3 56916348 56916348 G A rs1013498250 ARHGEF3 Nonsynonymous SNV A29V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 142743 chr14 104642857 104642857 G C rs74090224 KIF26A Synonymous SNV L1244L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.034 142744 chr14 104642981 104642981 G A rs200718356 KIF26A Nonsynonymous SNV G1286R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 142745 chr3 9988932 9988932 A T rs538339141 PRRT3 Nonsynonymous SNV V642E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.2 142746 chr14 104643204 104643204 C A rs113754530 KIF26A Nonsynonymous SNV A1360D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.898 142747 chr16 67859708 67859710 AGG - rs56304438 TSNAXIP1 E231del 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 142748 chr12 21450350 21450350 T C rs45628437 SLCO1A2 Nonsynonymous SNV I355V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.26 142749 chr14 105241422 105241422 G A rs34670300 AKT1 Synonymous SNV I186I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.12 142750 chr4 100503186 100503187 CG - MTTP V90Gfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 142751 chr14 105349165 105349165 C T rs754113337 CEP170B Synonymous SNV Y121Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.572 142752 chr14 105349166 105349166 C T rs755398773 CEP170B Nonsynonymous SNV P122S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.144 142753 chr14 105349167 105349167 C T rs778650271 CEP170B Nonsynonymous SNV P122L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.06 142754 chr3 69230162 69230162 T A rs61737530 FRMD4B Synonymous SNV G913G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.073 142755 chr12 2797767 2797767 G A rs749945590 CACNA1C Nonsynonymous SNV S1988N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 142756 chr4 1985390 1985390 G A rs2234575 NELFA Synonymous SNV F445F 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 Benign 9.196 142757 chr3 71026809 71026809 T C rs144080925 FOXP1 Synonymous SNV A371A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.789 142758 chr4 2306296 2306296 T C ZFYVE28 Nonsynonymous SNV I561V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.015 142759 chr14 105617143 105617143 G A rs111330665 MIR6765 0 0 0 1 0 0 0.003 0 0 0 0 0 1.228 142760 chr14 105643035 105643035 C T rs770714217 NUDT14 Synonymous SNV E88E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.575 142761 chr4 25806349 25806349 T C rs59964652 SEL1L3 Synonymous SNV V495V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 0.227 142762 chr3 97806094 97806094 C T rs749892421 OR5AC2 Synonymous SNV H26H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 142763 chr15 75968614 75968614 G A rs748152913 CSPG4 Synonymous SNV R2082R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 142764 chr3 195254591 195254591 C T rs376901693 PPP1R2 Synonymous SNV P46P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.712 142765 chr3 195460073 195460073 G A rs140657826 MUC20 Nonsynonymous SNV R705H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 142766 chr15 77324734 77324734 C T rs149195362 PSTPIP1 Synonymous SNV P279P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 2.654 142767 chr12 41582725 41582725 C T PDZRN4 Synonymous SNV R156R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 142768 chr15 33261114 33261119 GTGGGG - rs765958370 FMN1 P705_P706del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 142769 chr4 3494938 3494938 C T rs199606134 DOK7 Nonsynonymous SNV R99C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.5 142770 chr13 77752048 77752048 A T MYCBP2 Synonymous SNV A1725A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.821 142771 chr4 36345345 36345345 C A rs181892217 DTHD1 Nonsynonymous SNV R584S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 142772 chr4 3769129 3769129 G A ADRA2C Nonsynonymous SNV A266T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.19 142773 chr4 42153899 42153899 G A rs982070468 BEND4 Nonsynonymous SNV P88S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 142774 chr16 79633388 79633388 G T rs771268967 MAF Nonsynonymous SNV L138M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 142775 chr15 35838412 35838412 A G rs1027273154 DPH6-DT 0 0 0 1 0 0 0.003 0 0 0 0 0 9.166 142776 chr15 38230424 38230424 G A TMCO5A Synonymous SNV E127E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.044 142777 chr15 82564087 82564087 G A rs138563686 SAXO2 Nonsynonymous SNV R66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 142778 chr4 104054983 104054983 C T CENPE Nonsynonymous SNV D2076N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 142779 chr15 85186904 85186904 G A rs758913043 WDR73 Nonsynonymous SNV R312W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.8 142780 chr15 41037244 41037244 G A rs774398653 RMDN3 Synonymous SNV D246D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.46 142781 chr4 123855571 123855571 T G rs533190093 SPATA5 Synonymous SNV P274P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 4.08 142782 chr12 49412416 49412416 C T rs191152062 DDN-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.575 142783 chr4 110791224 110791224 G C rs757351189 LRIT3 Nonsynonymous SNV R440P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 142784 chr16 84514225 84514225 C T rs755714514 MEAK7 Synonymous SNV T389T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.44 142785 chr15 42442881 42442881 G A rs140725579 PLA2G4F Synonymous SNV T232T 0.006 0.008 0.01 4 7 3 0.01 3 0 0 0 0 2.618 142786 chr15 42448659 42448659 C A rs636604 PLA2G4F Nonsynonymous SNV G30V 0.009 0.008 0.014 4 11 3 0.01 4 0 0 0 0 11.73 142787 chr16 85952234 85952234 C T rs147080359 IRF8 Synonymous SNV F67F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 16.02 142788 chr12 52711548 52711548 C T rs149581248 KRT83 Nonsynonymous SNV A223T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 26.4 142789 chr15 42680058 42680058 T C rs17593 CAPN3 Synonymous SNV S202S 0.009 0.01 0.014 4 11 4 0.01 4 0 0 0 0 Benign/Likely benign 11.34 142790 chr3 41756937 41756937 A G rs200529626 ULK4 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 142791 chr15 90143865 90143865 G A rs199529840 TICRR Nonsynonymous SNV S700N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 142792 chr4 122078284 122078284 - CTGCCTGTCGTCCTCTCT rs554102907 TNIP3 R110_D111insEDDRQR 0.005 0.003 0 0 6 1 0 0 0 0 0 0 142793 chr4 122593712 122593712 G A rs147110745 ANXA5 Stop gain R201X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 142794 chr12 53008153 53008153 A G rs117850646 KRT73-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.661 142795 chr4 68459032 68459032 G A rs780523549 STAP1 Nonsynonymous SNV G262R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.6 142796 chr15 91161186 91161186 T G rs149408148 CRTC3 Nonsynonymous SNV W229G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 142797 chr4 155411234 155411234 C A rs201027235 DCHS2 Nonsynonymous SNV R425L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.752 142798 chr4 155411948 155411948 C A rs184619033 DCHS2 Nonsynonymous SNV R187L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.2 142799 chr15 45400291 45400291 G A rs776321578 DUOX2 Nonsynonymous SNV R510W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 142800 chr15 91525048 91525048 C G rs142416384 PRC1 Nonsynonymous SNV S103T 0.009 0.003 0.01 1 10 1 0.003 3 0 0 0 0 0.068 142801 chr4 1332366 1332366 G A rs772132175 MAEA Synonymous SNV P284P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 142802 chr15 49052401 49052401 C T CEP152 Synonymous SNV E875E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.66 142803 chr12 54676068 54676068 C T rs781737563 HNRNPA1 Synonymous SNV S158S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.37 142804 chr4 77817019 77817019 C T rs144442110 SOWAHB Nonsynonymous SNV D662N 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 142805 chr12 55715113 55715113 G A rs772308260 OR6C1 Nonsynonymous SNV V244I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.801 142806 chr15 101031132 101031132 C T rs148139207 CERS3 Nonsynonymous SNV V60I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.74 142807 chr16 101591 101591 C A rs200652769 POLR3K Nonsynonymous SNV A56S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 142808 chr15 59139625 59139625 G C rs139402598 MINDY2 Nonsynonymous SNV D500H 0 0 0.01 1 0 0 0.003 3 0 0 0 0 27.2 142809 chr16 111629 111629 T C rs758870359 RHBDF1 Nonsynonymous SNV Y425C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 142810 chr4 155225826 155225826 A G rs143254462 DCHS2 Nonsynonymous SNV I1867T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.4 142811 chr12 57397689 57397689 C T rs146220797 ZBTB39 Nonsynonymous SNV R338Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.44 142812 chr15 62174893 62174893 G C rs115741196 VPS13C Nonsynonymous SNV R3133G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 17.53 142813 chr12 57539194 57539194 G A rs35031168 LRP1 Synonymous SNV T254T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.48 142814 chr15 64048816 64048816 G A rs747921467 HERC1 Synonymous SNV F451F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 142815 chr4 8295828 8295828 T C rs142921859 HTRA3 Synonymous SNV I317I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.931 142816 chr12 6103738 6103738 G A rs55784921 VWF Synonymous SNV Y2033Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 1.966 142817 chr4 186253753 186253753 C A rs138810438 SNX25 Nonsynonymous SNV P421Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.286 142818 chr4 186320889 186320889 C T rs749133633 ANKRD37 Synonymous SNV L146L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.59 142819 chr4 859016 859016 C T rs142955360 GAK Synonymous SNV E941E 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 9.024 142820 chr4 88986613 88986618 TTAAAC - rs778896252 PKD2 L736_N737del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 142821 chr4 95529236 95529236 C G rs180835231 PDLIM5 Nonsynonymous SNV P213R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.743 142822 chr4 88903825 88903825 A G rs149833253 SPP1 Nonsynonymous SNV K200R 0.006 0.021 0 1 7 8 0.003 0 0 0 0 0 22.2 142823 chr3 49760131 49760132 TG - GMPPB T153Rfs*17 0.002 0 0 0 2 0 0 0 0 0 0 0 142824 chr12 7054968 7054968 C T rs782414883 C12orf57 Synonymous SNV Y75Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 142825 chr12 7064025 7064025 C T rs377246131 PTPN6 Synonymous SNV G128G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 19.53 142826 chr15 72968669 72968669 G A rs763698110 HIGD2B Nonsynonymous SNV S16L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 142827 chr3 52430489 52430489 G A DNAH1 Nonsynonymous SNV V3789I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.14 142828 chr12 7283287 7283287 G T rs145190321 CLSTN3 Nonsynonymous SNV A15S 0.004 0.005 0.014 1 5 2 0.003 4 1 0 0 0 0.572 142829 chr12 7288440 7288440 G C rs137907950 CLSTN3 Nonsynonymous SNV E211D 0.002 0 0.003 0 2 0 0 1 1 0 0 0 17.69 142830 chr4 184931515 184931515 G A rs61730740 STOX2 Synonymous SNV T508T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.132 142831 chr14 50176486 50176486 G C KLHDC1 Nonsynonymous SNV C76S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.72 142832 chr17 6351015 6351015 G A rs139450838 PIMREG Nonsynonymous SNV R176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 142833 chr5 121188325 121188325 G T rs149286328 FTMT Nonsynonymous SNV A223S 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 0.001 142834 chr15 81187416 81187416 G T rs148606628 CEMIP Nonsynonymous SNV G391V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 142835 chr6 47682070 47682070 G A rs140474813 ADGRF4 Synonymous SNV A363A 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 0.011 142836 chr4 40434719 40434719 - GCGGCC rs765476683 RBM47 A433_V434insAA 0.002 0.003 0 0 2 1 0 0 0 0 0 0 142837 chr6 49425693 49425693 C T rs778416004 MMUT Nonsynonymous SNV G155D 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 29 142838 chr5 126147503 126147503 T C rs61726489 LMNB1 Synonymous SNV S74S 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign/Likely benign 10.21 142839 chr6 49456085 49456085 A G CENPQ Synonymous SNV V166V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 3.117 142840 chr4 20852264 20852264 C A KCNIP4 Nonsynonymous SNV A10S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.93 142841 chr15 83455620 83455622 CTT - rs778690406 FSD2 E174del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 142842 chr17 7918013 7918013 G A rs760126408 GUCY2D Nonsynonymous SNV R836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 142843 chr14 61788875 61788875 C T rs55645551 PRKCH Nonsynonymous SNV A19V 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 23.7 142844 chr4 38799176 38799176 A C TLR1 Stop gain L426X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 142845 chr4 38940098 38940098 A G FAM114A1 Nonsynonymous SNV N309D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.666 142846 chr13 113826329 113826334 GGGCTC - rs780743700 PROZ G372_S373del 0 0 0.003 0 0 0 0 1 0 0 0 0 142847 chr6 7417649 7417649 C T RIOK1 Nonsynonymous SNV T457I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.8 142848 chr17 10542919 10542919 G T rs144338240 MYH3 Synonymous SNV T961T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.163 142849 chr15 91181683 91181683 G A rs775167901 CRTC3 Synonymous SNV V424V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.189 142850 chr15 91432599 91432599 T C rs749972268 FES Synonymous SNV I186I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.898 142851 chr16 22260123 22260123 A G rs568498620 EEF2K Nonsynonymous SNV K132R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 142852 chr4 104027386 104027386 G A rs145876863 CENPE Nonsynonymous SNV T2579I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 142853 chr13 29600025 29600025 A G rs201582472 MTUS2 Nonsynonymous SNV K397R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 142854 chr16 27475926 27475926 G A GTF3C1 Nonsynonymous SNV R1863C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 142855 chr16 28845442 28845442 C T rs147879774 ATXN2L Synonymous SNV S700S 0.008 0.008 0.003 5 9 3 0.013 1 0 0 0 0 15.49 142856 chr6 90420401 90420401 T A MDN1 Synonymous SNV T2588T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 11.37 142857 chr13 34404912 34404912 A G rs1805376 RFC3 Synonymous SNV Q210Q 0.007 0 0.01 1 8 0 0.003 3 0 0 0 0 6.079 142858 chr4 79238620 79238620 C T rs147869493 FRAS1 Nonsynonymous SNV R640C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.8 142859 chr16 30583547 30583547 G A rs200068940 ZNF688 Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.404 142860 chr6 97246471 97246471 A G rs143805425 GPR63 Synonymous SNV H379H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.595 142861 chr16 335639 335639 G T rs45503792 PDIA2 Nonsynonymous SNV G352V 0.004 0.01 0.014 4 5 4 0.01 4 0 0 0 0 0.154 142862 chr4 79792103 79792103 G A rs534035187 BMP2K Synonymous SNV Q466Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.129 142863 chr13 41791310 41791310 A C rs116450658 MTRF1 Nonsynonymous SNV S427A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.26 142864 chr5 141359912 141359912 T G rs147059342 RNF14 Synonymous SNV T227T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Benign 10.84 142865 chr13 41929296 41929296 A G rs17062054 NAA16 Nonsynonymous SNV E344G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.2 142866 chr5 14368906 14368906 C T rs144236504 TRIO Synonymous SNV C988C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.18 142867 chr5 145439472 145439472 C T rs148067714 SH3RF2 Synonymous SNV L533L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 142868 chr14 91247103 91247103 C A rs768036746 TTC7B Nonsynonymous SNV A142S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 142869 chr14 91755493 91755493 T C rs773044678 CCDC88C Nonsynonymous SNV N1466S 0.001 0.005 0 6 1 2 0.015 0 0 0 0 0 0.001 142870 chr4 84519210 84519210 C T GPAT3 Nonsynonymous SNV P335S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 142871 chr4 85594031 85594031 C T rs199672909 WDFY3 Nonsynonymous SNV R3524Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 142872 chr16 1035120 1035120 G A rs199719055 SOX8 Nonsynonymous SNV G359S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.463 142873 chr13 50280303 50280303 C A rs750441189 KPNA3 Synonymous SNV G380G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 142874 chr13 52542680 52542680 A G rs138427376 ATP7B Nonsynonymous SNV V536A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.214 142875 chr13 61018844 61018844 T C TDRD3 Nonsynonymous SNV F52L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 142876 chr4 144442605 144442605 C T rs112834245 SMARCA5 Synonymous SNV F92F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 14.9 142877 chr14 96730713 96730713 C T rs371690606 BDKRB1 Nonsynonymous SNV R232W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 16.83 142878 chr13 94958255 94958255 C T rs146432359 GPC6 Nonsynonymous SNV P344S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 142879 chr16 61687613 61687613 A C rs201100815 CDH8 Nonsynonymous SNV S767A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 142880 chr4 154216752 154216752 G A rs145538082 TRIM2 Synonymous SNV T331T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.976 142881 chr16 66423357 66423357 A G CDH5 Nonsynonymous SNV D238G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 142882 chr16 1716596 1716596 G T CRAMP1 Nonsynonymous SNV V1011L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.502 142883 chr4 984049 984049 C T rs373839581 SLC26A1 Synonymous SNV S226S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 142884 chr17 36483924 36483928 CTCTG - GPR179 Q1842Gfs*57 0.002 0.005 0 0 2 2 0 0 0 0 0 0 142885 chr16 66997491 66997491 G A rs61745806 CES3 Nonsynonymous SNV V129I 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 6.592 142886 chr16 66997713 66997713 A G rs61749484 CES3 Synonymous SNV V145V 0.007 0.003 0.003 4 8 1 0.01 1 0 0 0 0 10.24 142887 chr5 150920157 150920157 C T rs142809371 FAT2 Nonsynonymous SNV V3004I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 14.19 142888 chr16 1827133 1827133 G A rs147735377 SPSB3 Nonsynonymous SNV R345W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 142889 chr16 67241540 67241540 C T rs923981744 LRRC29 Nonsynonymous SNV V214M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 142890 chr14 104056535 104056535 A G COA8 Nonsynonymous SNV N165S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.5 142891 chr16 67686232 67686234 AGA - rs144268948 CARMIL2 K937del 0.004 0 0 3 5 0 0.008 0 0 0 0 0 142892 chr16 67688069 67688069 G A rs114594028 CARMIL2 Synonymous SNV P1046P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 12.42 142893 chr16 67692863 67692863 T C rs139438549 ACD Nonsynonymous SNV T205A 0.001 0.003 0 5 1 1 0.013 0 0 0 0 1 Likely benign 23.2 142894 chr16 2376175 2376175 G A rs761278645 ABCA3 Nonsynonymous SNV P52L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 142895 chr4 88106760 88106760 A G KLHL8 Synonymous SNV N136N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.006 142896 chr5 1085528 1085528 C T rs375270071 SLC12A7 Nonsynonymous SNV A246T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 142897 chr16 2764234 2764234 G A PRSS27 Nonsynonymous SNV P12S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 142898 chr17 38519545 38519545 G A rs202055764 GJD3 Nonsynonymous SNV H175Y 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 17.08 142899 chr17 38519546 38519546 C G rs567452990 GJD3 Synonymous SNV P174P 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 21.6 142900 chr17 38519831 38519831 G T rs141158879 GJD3 Synonymous SNV L79L 0.006 0.008 0.014 1 7 3 0.003 4 0 0 0 0 36 142901 chr16 68344641 68344641 G C rs780892473 SLC7A6OS Synonymous SNV S63S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 142902 chr16 68405348 68405348 C T rs780699757 SMPD3 Nonsynonymous SNV R246H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 142903 chr4 88760901 88760901 C G rs146974710 MEPE Nonsynonymous SNV P58R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.126 142904 chr16 2983855 2983855 G A rs200663480 FLYWCH1 Nonsynonymous SNV R463H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 142905 chr4 88903774 88903774 G A rs7435825 SPP1 Nonsynonymous SNV S183N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.2 142906 chr16 69304132 69304132 G A rs150250503 SNTB2 Synonymous SNV P364P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.88 142907 chr14 105349721 105349721 G T CEP170B Synonymous SNV S239S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.804 142908 chr14 104578297 104578297 A G rs367885542 ASPG Nonsynonymous SNV Q554R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 142909 chr16 3705872 3705872 - CCTGGTCCAGGAGGTCAGAGACAGCCACCTGACTGCCGTGGGGAAGCTGCTGGACA DNASE1 Frameshift insertion N76Tfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 142910 chr7 100679997 100679997 G A rs200284218 MUC17 Nonsynonymous SNV S1767N 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.38 142911 chr16 4382337 4382337 C T rs560306322 GLIS2 Nonsynonymous SNV A19V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.5 142912 chr16 4431325 4431325 C T rs755104728 VASN Synonymous SNV R149R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.809 142913 chr4 170581586 170581586 A T rs191793461 CLCN3 Nonsynonymous SNV E22D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.8 142914 chr5 121739541 121739541 G A rs10070158 SNCAIP Nonsynonymous SNV R22H 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Likely benign 4.883 142915 chr7 100806676 100806676 C T rs746511140 VGF Synonymous SNV K483K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.52 142916 chr4 175897230 175897230 A C ADAM29 Nonsynonymous SNV Q185P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.424 142917 chr5 173035297 173035297 - TAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGG BOD1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 142918 chr16 4942154 4942154 C T rs138181414 PPL Nonsynonymous SNV E571K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.63 142919 chr5 11159710 11159710 G A rs768575356 CTNND2 Nonsynonymous SNV R376C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 142920 chr4 184614140 184614140 A C rs374682349 TRAPPC11 Nonsynonymous SNV N693H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.87 142921 chr5 177419920 177419920 G A rs145883811 PROP1 Synonymous SNV Y157Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.384 142922 chr5 115813728 115813728 C T rs371845668 SEMA6A Nonsynonymous SNV R517Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 28.7 142923 chr5 179196085 179196085 G A MAML1 Nonsynonymous SNV E656K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 142924 chr16 14340600 14340600 C T rs760032035 MRTFB Nonsynonymous SNV R484C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 142925 chr5 121761178 121761178 C T rs55770446 SNCAIP Synonymous SNV L72L 0.007 0 0 2 8 0 0.005 0 0 0 0 0 Benign 11.72 142926 chr14 21969229 21969229 G A METTL3 Synonymous SNV C314C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.801 142927 chr5 137677085 137677085 C T rs35360938 FAM53C Nonsynonymous SNV R21C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 142928 chr5 137681192 137681192 G A rs776202812 FAM53C Nonsynonymous SNV R272H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 142929 chr14 23495574 23495574 G A rs562640901 PSMB5 Nonsynonymous SNV R201C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.509 142930 chr4 1962782 1962782 C T rs145743173 NSD2 Synonymous SNV Y1092Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 14.43 142931 chr4 24531298 24531298 T C rs138181423 DHX15 Synonymous SNV E732E 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.798 142932 chr5 131953827 131953827 G A rs104895051 RAD50 Nonsynonymous SNV R1077Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 26.1 142933 chr5 41032908 41032908 C A rs201138878 MROH2B Stop gain E793X 0.004 0 0 0 5 0 0 0 0 0 0 0 46 142934 chr5 132161699 132161699 G T rs143556262 SHROOM1 Nonsynonymous SNV P45Q 0.004 0.005 0.014 1 5 2 0.003 4 0 0 0 0 23.8 142935 chr16 24802972 24802972 T C rs139403173 TNRC6A Synonymous SNV D1003D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.416 142936 chr5 135383109 135383109 G A TGFBI Synonymous SNV R257R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 142937 chr5 135394903 135394903 G A rs35151677 TGFBI Synonymous SNV L601L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.02 142938 chr14 24976567 24976567 T C CMA1 Synonymous SNV A68A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.92 142939 chr5 140572185 140572185 T C rs141525292 PCDHB10 Synonymous SNV F20F 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 5.858 142940 chr5 140579527 140579527 C T PCDHB11 Synonymous SNV S60S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 142941 chr16 29825019 29825019 C G rs200926711 PRRT2 Nonsynonymous SNV P215R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 24.5 142942 chr16 29859305 29859305 C T rs34437030 MVP Nonsynonymous SNV R827C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 142943 chr5 140782794 140782794 G - rs539681713 PCDHGA9 E93Rfs*12 0.004 0 0 2 5 0 0.005 0 0 0 0 0 142944 chr16 30529014 30529014 G A rs761151101 ITGAL Synonymous SNV P923P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.195 142945 chr16 30566670 30566670 C T rs202065363 ZNF764 Nonsynonymous SNV V357M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.134 142946 chr16 30750912 30750912 A G rs900422075 SRCAP Nonsynonymous SNV D3184G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.04 142947 chr16 30774829 30774829 C T rs149784534 RNF40 Nonsynonymous SNV P131S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.898 142948 chr5 139189345 139189345 G C rs74474287 PSD2 Nonsynonymous SNV G107A 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.144 142949 chr16 89616966 89616966 G A rs369686424 SPG7 Synonymous SNV S576S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 142950 chr14 39561806 39561806 G C rs750268186 SEC23A Nonsynonymous SNV S102C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 142951 chr16 50106601 50106601 A G rs757409742 HEATR3 Nonsynonymous SNV N200D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.2 142952 chr7 148951303 148951303 T C ZNF212 Nonsynonymous SNV C429R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 142953 chr7 149461895 149461895 C T rs201535763 ZNF467 Nonsynonymous SNV G566S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.793 142954 chr16 57602000 57602000 C T rs192608331 ADGRG5 Nonsynonymous SNV R352C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 142955 chr7 150174672 150174672 T C GIMAP8 Nonsynonymous SNV F601S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25 142956 chr14 58332488 58332488 C T SLC35F4 Nonsynonymous SNV R19Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 142957 chr4 57467136 57467136 C T rs748146057 THEGL Stop gain R382X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 142958 chr5 71756805 71756805 G C rs373652973 ZNF366 Synonymous SNV P173P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 142959 chr5 73144829 73144829 G A rs200028795 ARHGEF28 Nonsynonymous SNV R242H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 142960 chr17 3337048 3337048 G A OR1E2 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.863 142961 chr7 156476855 156476855 G A LMBR1 Nonsynonymous SNV L317F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.6 142962 chr17 3955348 3955348 G A rs748721381 ZZEF1 Synonymous SNV I1839I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 142963 chr14 65878847 65878847 - G rs34007703 FUT8-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 142964 chr14 65878909 65878909 C T rs1953417 FUT8-AS1 0 0 0.048 0 0 0 0 14 0 0 1 0 4.839 142965 chr5 78181463 78181463 C T rs144879531 ARSB Synonymous SNV R362R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 15.84 142966 chr14 68221781 68221781 C T rs763267244 ZFYVE26 Nonsynonymous SNV A2325T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.7 142967 chr7 158449304 158449304 C T rs17851792 NCAPG2 Synonymous SNV Q718Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 3.205 142968 chr17 71196908 71196908 G A rs150638922 COG1 Nonsynonymous SNV R425Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 142969 chr7 158476043 158476043 G A rs10274075 NCAPG2 Synonymous SNV F291F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 12.37 142970 chr5 78379069 78379069 C T rs60797063 BHMT2 Nonsynonymous SNV T154M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 25.6 142971 chr5 79027397 79027397 G T CMYA5 Stop gain E937X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 142972 chr14 70234127 70234127 C T rs146236447 LOC100289511 0 0 0.007 0 0 0 0 2 0 0 0 0 10.85 142973 chr5 87485868 87485868 C T rs910671100 TMEM161B 0.002 0 0 0 2 0 0 0 0 0 0 0 7.071 142974 chr5 156484944 156484944 T C HAVCR1 Nonsynonymous SNV Q4R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 142975 chr17 72350315 72350315 C T rs745905498 KIF19 Synonymous SNV L775L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 142976 chr5 80513260 80513260 G A rs143531418 RASGRF2 Nonsynonymous SNV E1174K 0.005 0.008 0 0 6 3 0 0 0 0 0 0 28.1 142977 chr5 90119296 90119296 C T rs369762787 ADGRV1 Synonymous SNV V5417V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.57 142978 chr17 5358559 5358559 G A rs762204724 DHX33 Synonymous SNV I183I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 142979 chr16 74519706 74519706 G T rs767165122 GLG1 Nonsynonymous SNV S509Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 142980 chr5 16465640 16465640 C T rs755585967 ZNF622 Synonymous SNV E45E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.96 142981 chr14 77493644 77493644 - GCGGCGGCGGCG IRF2BPL A164_V165insAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 142982 chr5 94956983 94956983 C G rs367933080 GPR150 Nonsynonymous SNV A335G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.06 142983 chr5 172518208 172518208 C T rs145769264 CREBRF Synonymous SNV S342S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.69 142984 chr15 80845057 80845057 A T ARNT2 Nonsynonymous SNV D344V 0 0.003 0 0 0 1 0 0 0 0 0 0 28 142985 chr7 27142081 27142081 A G rs933018904 HOXA2 Synonymous SNV N13N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 142986 chr5 9629407 9629407 A G rs770402249 TAS2R1 Synonymous SNV F246F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 142987 chr5 96333777 96333777 T C rs763083588 LNPEP Synonymous SNV S527S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.255 142988 chr5 176011198 176011198 A G rs115353627 CDHR2 Nonsynonymous SNV N689S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.3 142989 chr5 176524586 176524586 G A rs370297992 FGFR4 Nonsynonymous SNV S733N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 142990 chr4 85642708 85642708 G A WDFY3 Synonymous SNV L2487L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 142991 chr6 10586727 10586727 G A rs56106312 GCNT2 Nonsynonymous SNV A169T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 9.177 142992 chr17 7667554 7667554 C T rs146533727 DNAH2 Nonsynonymous SNV A1100V 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 21.4 142993 chr4 88295897 88295897 G A HSD17B11 Nonsynonymous SNV P135L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 142994 chr6 109762376 109762376 T G rs768987055 SMPD2 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.6 142995 chr14 94464489 94464489 G A rs10142728 CCDC197 Nonsynonymous SNV M4I 0 0 0.061 0 0 0 0 18 0 0 0 0 6.07 142996 chr15 89382103 89382103 G A rs370626315 ACAN Nonsynonymous SNV V94M 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 23.9 142997 chr14 94962887 94962887 C T rs141798671 SERPINA12 Nonsynonymous SNV R243H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.441 142998 chr16 86588345 86588345 T C rs577360735 MTHFSD Nonsynonymous SNV K10R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 142999 chr16 87367696 87367696 C T rs749513403 FBXO31 Nonsynonymous SNV R398Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.092 143000 chr14 98218281 98218281 C T rs545349166 LINC02312 0 0 0.003 0 0 0 0 1 0 0 0 0 1.282 143001 chr16 87445924 87445924 A G ZCCHC14 Synonymous SNV S801S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 143002 chr15 90349623 90349623 G T rs139763075 ANPEP Synonymous SNV T64T 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign 0.041 143003 chr5 24535249 24535249 G T CDH10 Synonymous SNV V262V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.523 143004 chr6 127768485 127768485 C T rs142527882 KIAA0408 Nonsynonymous SNV E327K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.68 143005 chr15 21938115 21938115 G A rs7176937 LOC646214 0 0 0.007 0 0 0 0 2 0 0 0 0 8.657 143006 chr15 94910936 94910936 A G rs146815647 MCTP2 Synonymous SNV T56T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.666 143007 chr15 25457284 25457284 C T rs117491128 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 4.961 143008 chr16 89293467 89293467 G C rs369672877 ZNF778 Synonymous SNV P229P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.353 143009 chr16 89293594 89293594 G A rs767274208 ZNF778 Nonsynonymous SNV V272M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.168 143010 chr5 35957474 35957474 A G UGT3A1 Synonymous SNV L297L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.094 143011 chr5 1243699 1243699 C T rs35661976 SLC6A18 Synonymous SNV V387V 0.009 0.003 0.014 4 10 1 0.01 4 0 0 0 0 9.414 143012 chr6 143091411 143091411 G A rs768721723 HIVEP2 Nonsynonymous SNV R1489C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 29.2 143013 chr15 40675090 40675090 G A rs371327504 KNSTRN Synonymous SNV L18L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.448 143014 chr18 7015730 7015730 C T LAMA1 Synonymous SNV V1039V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.16 143015 chr6 148867217 148867217 C T rs200999161 SASH1 Nonsynonymous SNV R900W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 143016 chr6 149997768 149997768 C T rs575740406 LATS1 Nonsynonymous SNV R620H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 143017 chr7 64453117 64453117 G A rs200164912 ERV3-1 Synonymous SNV V96V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 143018 chr17 3101098 3101098 G A rs748720996 OR1A2 Nonsynonymous SNV G96R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 143019 chr15 42149615 42149615 A G rs542596280 SPTBN5 Synonymous SNV T2814T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.005 143020 chr6 150710623 150710625 TCA - rs863223276 IYD F105_I106delinsL 0 0.003 0 0 0 1 0 0 0 0 0 0 143021 chr5 60183286 60183286 G C rs546328344 ERCC8 Nonsynonymous SNV P215R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 143022 chr15 42676715 42676715 G A CAPN3 Nonsynonymous SNV G115E 0 0 0.003 0 0 0 0 1 0 0 0 0 31 143023 chr15 43658852 43658852 A G rs776745172 ZSCAN29 Synonymous SNV D226D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.411 143024 chr18 14124419 14124419 G A ZNF519 Synonymous SNV C20C 0.001 0 0.014 0 1 0 0 4 0 0 0 0 4.867 143025 chr17 27945065 27945065 C G rs922748566 CORO6 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 143026 chr16 1573952 1573952 G A rs150129370 IFT140 Synonymous SNV N1049N 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.158 143027 chr5 68588096 68588096 G C rs150476854 CCDC125 Nonsynonymous SNV Q340E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 143028 chr6 158910653 158910653 T C rs141271573 TULP4 Nonsynonymous SNV V507A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.53 143029 chr16 1836639 1836639 C T rs199651045 NUBP2 Nonsynonymous SNV R40C 0 0.005 0 2 0 2 0.005 0 0 0 0 0 26.5 143030 chr7 80302138 80302138 - CAAGC rs757570230 CD36 Frameshift insertion E358Hfs*8 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 143031 chr17 30621312 30621312 G T RHBDL3 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 143032 chr16 1869182 1869182 T C rs756525570 HAGH Nonsynonymous SNV T159A 0 0.005 0 2 0 2 0.005 0 0 0 0 0 23.9 143033 chr6 155577900 155577900 C T rs143599677 TIAM2 Nonsynonymous SNV P509L 0 0.008 0 0 0 3 0 0 0 0 0 0 27.3 143034 chr7 87011403 87011403 T C rs765205370 CROT Nonsynonymous SNV V359A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.07 143035 chr5 140572681 140572681 G A rs140177924 PCDHB10 Nonsynonymous SNV D186N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.79 143036 chr17 33902879 33902879 C T rs200283718 PEX12 Synonymous SNV R334R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.17 143037 chr17 34072264 34072264 G T rs112426189 GAS2L2 Nonsynonymous SNV A751D 0.007 0.003 0.007 7 8 1 0.018 2 0 0 0 0 10.88 143038 chr7 87190625 87190625 T C rs36008564 ABCB1 Nonsynonymous SNV I261V 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 Benign 15.93 143039 chr17 35640231 35640231 G T rs111441513 ACACA Synonymous SNV R88R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Likely benign 12.6 143040 chr5 140751866 140751866 G T rs35459734 PCDHGB3 Nonsynonymous SNV R635S 0.003 0.005 0.01 4 3 2 0.01 3 0 0 0 0 22.6 143041 chr7 88964615 88964615 C T rs770261158 ZNF804B Synonymous SNV S773S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.311 143042 chr5 140762533 140762533 C A rs36077896 PCDHGA7 Nonsynonymous SNV P23T 0.003 0.005 0.01 4 3 2 0.01 3 0 0 0 0 0.002 143043 chr5 140762659 140762659 C T rs200016406 PCDHGA7 Nonsynonymous SNV R65C 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 34 143044 chr6 159670088 159670088 T A rs189951581 FNDC1 Nonsynonymous SNV S1570T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.111 143045 chr5 140798879 140798879 G C rs35892780 PCDHGB7 Nonsynonymous SNV G485R 0.003 0.005 0.01 4 3 2 0.01 3 0 0 0 0 24.5 143046 chr17 37374188 37374188 A G rs140312051 STAC2 Nonsynonymous SNV L110P 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 143047 chr5 140869980 140869980 G A rs2233606 PCDHGC5 Synonymous SNV P391P 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 Benign 4.053 143048 chr5 140870214 140870214 G A rs2233607 PCDHGC5 Synonymous SNV P469P 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 Benign 5.707 143049 chr5 140870820 140870820 T C rs71583648 PCDHGC5 Synonymous SNV P671P 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 Benign 2.553 143050 chr5 140870928 140870928 C A rs71583649 PCDHGC5 Synonymous SNV V707V 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 Benign 12.55 143051 chr18 44063648 44063648 A G rs199645176 LOXHD1 Synonymous SNV C320C 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.176 143052 chr18 44774205 44774205 C G rs527709393 SKOR2 Nonsynonymous SNV L450F 0.007 0.003 0 0 8 1 0 0 0 0 0 0 18.76 143053 chr15 63054511 63054511 C T rs150096125 TLN2 Nonsynonymous SNV T1607I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 143054 chr15 63340469 63340469 C G rs140483658 TPM1-AS 0 0 0.014 0 0 0 0 4 0 0 0 0 Likely benign 7.121 143055 chr6 161157985 161157985 G A rs551058645 PLG Nonsynonymous SNV G583E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.9 143056 chr17 38512268 38512268 G A rs146977371 RARA Synonymous SNV E296E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.922 143057 chr7 94056579 94056579 G A rs751898427 COL1A2 Nonsynonymous SNV R1080Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 28 143058 chr6 170871054 170871076 AGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG TBP Q57Hfs*67 0.002 0 0 0 2 0 0 0 0 0 0 0 143059 chr16 4562846 4562846 G A CDIP1 Nonsynonymous SNV S154F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.6 143060 chr7 99022523 99022523 C T rs188694971 ATP5MF-PTCD1, PTCD1 Synonymous SNV P544P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.096 143061 chr5 89949452 89949452 A T rs753490322 ADGRV1 Nonsynonymous SNV N1354I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 143062 chr5 148729230 148729230 G A rs140331718 GRPEL2 Nonsynonymous SNV R82K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.3 143063 chr16 8829626 8829626 G A rs34813662 ABAT Synonymous SNV L10L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign/Likely benign 3.857 143064 chr15 69738383 69738383 T A KIF23 Synonymous SNV S695S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 143065 chr17 7758851 7758851 T G rs61739615 TMEM88 Nonsynonymous SNV V100G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 143066 chr17 8015479 8015479 C T rs141814242 ALOXE3 Nonsynonymous SNV R238H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 143067 chr15 72122559 72122559 A C rs149312322 MYO9A Nonsynonymous SNV L2311V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.032 143068 chr6 25665222 25665222 C T rs567158105 SCGN Nonsynonymous SNV R100W 0.004 0 0.003 0 5 0 0 1 0 0 0 0 18.41 143069 chr5 150102497 150102497 T C rs752232545 DCTN4 Nonsynonymous SNV I237V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 143070 chr6 25773870 25773870 A G rs1041439361 SLC17A4 Nonsynonymous SNV I319V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 23.5 143071 chr6 20781425 20781425 T G rs758412176 CDKAL1 Synonymous SNV L189L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.142 143072 chr5 96341879 96341879 A G rs563274580 LNPEP Nonsynonymous SNV I630V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 143073 chr15 75130674 75130674 G A rs55817344 ULK3 Synonymous SNV A393A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.455 143074 chr17 8790473 8790473 G A rs61761067 PIK3R5 Synonymous SNV D229D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 8.704 143075 chr17 8790850 8790850 G A rs61756144 PIK3R5 Synonymous SNV H203H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 4.149 143076 chr17 8926209 8926209 C T rs146020999 NTN1 Synonymous SNV P173P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.88 143077 chr6 26468201 26468201 C T rs116782726 BTN2A1 Synonymous SNV T275T 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 Benign 12 143078 chr17 39659600 39659600 A G rs762541345 KRT13 Nonsynonymous SNV L225P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 143079 chr6 26598572 26598572 C T rs61748270 ABT1 Nonsynonymous SNV A173V 0.006 0.003 0.007 0 7 1 0 2 0 0 0 0 23.5 143080 chr6 109519659 109519659 T A rs192736721 CCDC162P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.3 143081 chr6 107016438 107016438 C T rs747968107 CRYBG1 Synonymous SNV T1723T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 143082 chr6 28214811 28214811 A G rs62638679 ZKSCAN4 Synonymous SNV D83D 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 8.789 143083 chr6 10912993 10912993 G A rs199768634 SYCP2L Nonsynonymous SNV A336T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.988 143084 chr17 10633125 10633125 G A TMEM220 Nonsynonymous SNV A15V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 143085 chr8 120803697 120803697 G A rs746100564 TAF2 Nonsynonymous SNV P427L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22 143086 chr6 111694554 111694554 T A REV3L Synonymous SNV P1668P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.897 143087 chr16 21261266 21261266 A G ANKS4B Nonsynonymous SNV M127V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.344 143088 chr15 79586113 79586113 A G rs974198742 ANKRD34C Nonsynonymous SNV T163A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.037 143089 chr19 408325 408325 G A rs184993923 C2CD4C Nonsynonymous SNV R13W 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 28 143090 chr17 42084810 42084810 G A rs140481641 NAGS Nonsynonymous SNV D406N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 143091 chr6 117715466 117715466 T G rs752745358 ROS1 Nonsynonymous SNV E341D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 22.1 143092 chr19 731169 731169 C T rs368636400 PALM Nonsynonymous SNV P115L 0.004 0 0 0 5 0 0 0 0 0 0 0 17.71 143093 chr17 43319426 43319426 C T FMNL1 Nonsynonymous SNV P600S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.844 143094 chr17 45377902 45377902 A G ITGB3 Nonsynonymous SNV N658D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 143095 chr6 129833555 129833555 C T rs374888837 LAMA2 Nonsynonymous SNV R2965C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 143096 chr5 177419966 177419966 G A rs143790367 PROP1 Nonsynonymous SNV A142V 0.008 0.005 0.003 0 9 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.9 143097 chr15 89876828 89876830 TGC - rs727504102 POLG Q55del 0.004 0.005 0.02 4 5 2 0.01 6 0 0 0 0 143098 chr6 38818051 38818051 G A rs199737918 DNAH8 Nonsynonymous SNV D1525N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 143099 chr6 146125535 146125535 T C rs35477513 FBXO30 Synonymous SNV G669G 0.005 0.005 0.01 7 6 2 0.018 3 0 0 0 0 0.022 143100 chr6 41613957 41613957 C T rs753464609 MDFI Nonsynonymous SNV A57V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.112 143101 chr6 41738654 41738654 G A rs144170980 FRS3 Synonymous SNV R394R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.113 143102 chr15 91025452 91025452 A G IQGAP1 Nonsynonymous SNV K1165R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 143103 chr6 43017327 43017327 G C CUL7 Nonsynonymous SNV P632R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.94 143104 chr8 144641985 144641985 A G GSDMD Nonsynonymous SNV M86V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 143105 chr5 180377464 180377464 G A rs375021363 BTNL8 Nonsynonymous SNV A359T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.997 143106 chr19 1796162 1796162 G A rs747958711 ATP8B3 Nonsynonymous SNV T572M 0.007 0.003 0 0 8 1 0 0 0 0 0 0 25.9 143107 chr19 1912594 1912594 C T rs139117131 ADAT3 Nonsynonymous SNV T167M 0.017 0.008 0.007 5 20 3 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.49 143108 chr17 56573284 56573284 T C rs200411415 MTMR4 Nonsynonymous SNV E740G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 143109 chr6 43013398 43013398 C T rs61750321 CUL7 Nonsynonymous SNV S1014N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 22.8 143110 chr19 2410345 2410345 A G rs138847400 TMPRSS9 Nonsynonymous SNV R369G 0.004 0 0 0 5 0 0 0 0 0 0 0 17.55 143111 chr8 144893378 144893378 G A rs149808301 SCRIB Synonymous SNV A348A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.564 143112 chr19 3539203 3539203 C T rs11668417 C19orf71 Nonsynonymous SNV R10W 0.006 0 0 2 7 0 0.005 0 0 0 0 0 13.94 143113 chr6 46761296 46761296 A G rs749161210 MEP1A Nonsynonymous SNV Y26C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 9.584 143114 chr16 12497313 12497313 G C rs765956667 SNX29 Nonsynonymous SNV R655P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 143115 chr17 37829862 37829862 C T rs546711124 PGAP3 Nonsynonymous SNV R149Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 143116 chr6 15504769 15504769 G A rs140556836 JARID2 Synonymous SNV A657A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 15.38 143117 chr5 35861003 35861003 C T rs11567704 IL7R Synonymous SNV S44S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.75 143118 chr5 36141301 36141301 C T rs77738282 LMBRD2 Synonymous SNV Q92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.38 143119 chr16 69725697 69725697 T G rs56368098 NFAT5 Nonsynonymous SNV S432A 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 Benign 14.35 143120 chr17 64049951 64049951 T C rs749545054 CEP112 Nonsynonymous SNV Q332R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 143121 chr17 64880639 64880639 C G rs760566680 CACNG5 Nonsynonymous SNV S144C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 143122 chr6 49700908 49700908 G A rs376851622 CRISP3 Nonsynonymous SNV A197V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 143123 chr8 17143918 17143918 A G rs117336150 VPS37A Synonymous SNV Q367Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.621 143124 chr16 1842518 1842518 T C rs1037551945 IGFALS 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.001 143125 chr16 74908314 74908314 C T WDR59 Synonymous SNV R906R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16 143126 chr16 75258780 75258780 C T rs184916224 CTRB1 Nonsynonymous SNV P225L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.395 143127 chr6 16327904 16327909 TGCTGA - rs749872352 ATXN1 H211_Q212del 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 143128 chr16 75681860 75681860 G A rs768633460 TERF2IP Nonsynonymous SNV S27N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 143129 chr6 64516210 64516210 T G rs775877185 EYS Synonymous SNV S2428S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.29 143130 chr5 55088580 55088580 A G rs139850021 DDX4 Nonsynonymous SNV K323E 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 24.4 143131 chr17 39645730 39645730 G A rs534577749 KRT36 Synonymous SNV Y129Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.772 143132 chr6 56328426 56328426 A G rs200781365 DST Synonymous SNV T4985T 0.012 0.013 0.003 0 14 5 0 1 0 0 0 0 Benign 0.659 143133 chr6 56341021 56341021 T C DST Nonsynonymous SNV T4641A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 143134 chr6 56351972 56351972 G C rs80260070 DST Nonsynonymous SNV L4370V 0.013 0.021 0.007 1 15 8 0.003 2 0 0 0 0 23.5 143135 chr5 56171089 56171089 G A rs2229883 MAP3K1 Synonymous SNV L639L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.025 143136 chr16 22144284 22144284 C A rs189037151 VWA3A Nonsynonymous SNV L646I 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 26.8 143137 chr17 39871824 39871824 T C GAST Nonsynonymous SNV W46R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.768 143138 chr5 60628273 60628273 G C rs571004627 ZSWIM6 Synonymous SNV G58G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.005 143139 chr16 81208332 81208332 C G rs373241082 PKD1L2 Nonsynonymous SNV R239T 0 0.005 0 0 0 2 0 0 0 0 0 0 22.3 143140 chr19 6501386 6501386 C T rs150812047 TUBB4A Synonymous SNV A63A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 19.52 143141 chr6 69728298 69728298 A G rs201931731 ADGRB3 Nonsynonymous SNV I672V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.269 143142 chr5 65350140 65350140 C G rs147655819 ERBIN Synonymous SNV P998P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.7 143143 chr6 7313307 7313307 G C SSR1 Nonsynonymous SNV P16R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 143144 chr17 73229024 73229024 G A rs545929051 NUP85 Nonsynonymous SNV R446H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 143145 chr5 67592107 67592107 G A rs888530850 PIK3R1 Synonymous SNV K278K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 143146 chr16 2503500 2503500 C T rs555465125 CCNF Synonymous SNV H251H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.03 143147 chr5 68805625 68805625 C T rs201492433 OCLN Synonymous SNV Y236Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.325 143148 chr16 2546790 2546790 G A rs200324356 TBC1D24 Nonsynonymous SNV R214H 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 143149 chr16 27709754 27709754 T C rs146475680 KIAA0556 Nonsynonymous SNV V349A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 143150 chr6 76331293 76331293 A G SENP6 Nonsynonymous SNV N33S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 143151 chr6 167728881 167728881 C T rs770662491 UNC93A Nonsynonymous SNV P397S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.078 143152 chr17 73699917 73699917 G A rs779839875 SAP30BP Synonymous SNV E177E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 143153 chr6 79577486 79577486 C G IRAK1BP1 Nonsynonymous SNV P65A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.3 143154 chr5 72469097 72469097 G - TMEM174 D10Tfs*74 0.002 0 0 0 2 0 0 0 0 0 0 0 143155 chr16 30680534 30680534 T C rs766290155 FBRS Synonymous SNV A837A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 143156 chr17 74083739 74083739 G A EXOC7 Synonymous SNV S434S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 143157 chr16 30680537 30680537 T C rs559240211 FBRS Synonymous SNV A838A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 143158 chr16 30933752 30933752 C A rs147834303 FBXL19-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 13.19 143159 chr6 90642261 90642261 C A BACH2 Nonsynonymous SNV G798C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 143160 chr17 76972237 76972237 G A rs766654794 LGALS3BP Synonymous SNV G18G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.916 143161 chr17 77079584 77079584 G A rs145249242 ENGASE Nonsynonymous SNV R388H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 143162 chr6 26406248 26406248 A G rs149895116 BTN3A1 Nonsynonymous SNV K66R 0.005 0 0 3 6 0 0.008 0 0 0 0 0 0.03 143163 chr8 57892621 57892621 G C IMPAD1 Nonsynonymous SNV P175A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.6 143164 chr6 27834857 27834857 C A rs145278803 H1-5 Nonsynonymous SNV A151S 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 9.891 143165 chr7 100453456 100453456 G A rs138890264 SLC12A9 Nonsynonymous SNV A149T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 14.61 143166 chr6 28359102 28359102 A - rs371660996 ZSCAN12 I322Kfs*304 0.004 0 0 2 5 0 0.005 0 0 0 0 0 143167 chr8 6669229 6669229 G A rs373562602 XKR5 Synonymous SNV D517D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.128 143168 chr17 78350110 78350110 G A rs148731719 RNF213 Nonsynonymous SNV A4399T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 12.88 143169 chr6 35259365 35259365 G A rs149925131 ZNF76 Nonsynonymous SNV G261D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.6 143170 chr16 49669833 49669833 T C rs200494811 ZNF423 Nonsynonymous SNV Q960R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.7 143171 chr16 49670153 49670153 C T ZNF423 Synonymous SNV S853S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 143172 chr16 89352449 89352449 G A rs140998225 ANKRD11 Nonsynonymous SNV T297M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 29.7 143173 chr17 59152328 59152328 G A rs201061353 BCAS3 Nonsynonymous SNV D693N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 143174 chr18 357487 357487 T C rs180771503 COLEC12 Nonsynonymous SNV N32D 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Likely benign 23.3 143175 chr16 57938728 57938728 C T rs780587754 CNGB1 Synonymous SNV G842G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 143176 chr17 65850508 65850508 C G BPTF Nonsynonymous SNV P356A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 143177 chr8 99047894 99047894 T C rs151208737 MATN2 Nonsynonymous SNV M901T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 143178 chr6 100838246 100838246 G A rs143803280 SIM1 Synonymous SNV N764N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.828 143179 chr6 4125586 4125586 A G rs1802393 ECI2 Synonymous SNV F201F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 3.154 143180 chr18 5416209 5416209 C G rs780756917 EPB41L3 Nonsynonymous SNV D559H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 143181 chr16 66997756 66997756 T C rs71647892 CES3 Nonsynonymous SNV Y160H 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 1.645 143182 chr16 67318271 67318271 C G PLEKHG4 Nonsynonymous SNV R454G 0 0 0.003 0 0 0 0 1 0 0 0 0 21 143183 chr16 67943056 67943056 A T PSKH1 Nonsynonymous SNV E135V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 143184 chr9 103091493 103091493 T C rs770261559 TEX10 Synonymous SNV P521P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.432 143185 chr9 107298863 107298863 C T rs79185841 OR13C3 Nonsynonymous SNV A78T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.8 143186 chr6 43168418 43168418 A G CUL9 Nonsynonymous SNV K1165E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 143187 chr16 70841658 70841658 C T rs183874188 HYDIN Nonsynonymous SNV R5064H 0 0.003 0.01 0 0 1 0 3 0 0 0 0 26.8 143188 chr6 43412575 43412575 G A rs146760100 ABCC10 Synonymous SNV L885L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.7 143189 chr6 43968433 43968433 G T rs145140661 C6orf223, LOC101929705 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.4 143190 chr9 113170920 113170920 A C rs200717973 SVEP1 Synonymous SNV P2320P 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 0.003 143191 chr7 100683465 100683465 C G MUC17 Nonsynonymous SNV P2923R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.754 143192 chr9 113265326 113265326 C T rs117475463 SVEP1 Nonsynonymous SNV R492Q 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 23.7 143193 chr6 46107541 46107541 A G rs199781763 ENPP4 Nonsynonymous SNV H74R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 143194 chr7 100865946 100865946 C T rs758006157 ZNHIT1 Synonymous SNV I28I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 143195 chr16 75728368 75728368 A G rs17697324 DUXB Nonsynonymous SNV M79T 0 0 0.051 0 0 0 0 15 0 0 0 0 4.504 143196 chr18 21404391 21404391 T C rs759477413 LAMA3 Synonymous SNV A811A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.206 143197 chr6 117715395 117715395 C G rs61743088 ROS1 Nonsynonymous SNV G365A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 23.7 143198 chr17 73827377 73827377 C T rs748256131 UNC13D Nonsynonymous SNV A834T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 4.95 143199 chr16 77850887 77850887 G A rs148203612 VAT1L Synonymous SNV V101V 0.005 0 0.017 1 6 0 0.003 5 0 0 0 0 12.42 143200 chr6 49936426 49936426 G T rs369144899 DEFB113 Synonymous SNV I71I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.343 143201 chr7 117149143 117149143 C T rs115545701 CFTR Nonsynonymous SNV R74W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 drug response 24 143202 chr17 74475295 74475295 G A rs748232908 RHBDF2 Nonsynonymous SNV R113C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 143203 chr6 51824770 51824770 G A PKHD1 Nonsynonymous SNV P1936S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.996 143204 chr7 117282582 117282582 G A rs11971167 CFTR Nonsynonymous SNV D1270N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 drug response 34 143205 chr7 116435720 116435720 C T rs200865810 MET Synonymous SNV G840G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 14.89 143206 chr17 6555257 6555257 G A rs566183978 C17orf100 Synonymous SNV K8K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.808 143207 chr6 52884063 52884063 T C rs149467924 CILK1 Synonymous SNV R151R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.455 143208 chr6 53516516 53516516 C A rs142726111 KLHL31 Synonymous SNV T595T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 20.6 143209 chr17 6928019 6928019 - CAGCAG BCL6B S244_E245insSS 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 143210 chr16 84043448 84043448 G A rs148450852 SLC38A8 Synonymous SNV L417L 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 4.995 143211 chr6 13206204 13206204 C T PHACTR1 Synonymous SNV H182H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.533 143212 chr6 132892282 132892282 T C rs144101124 TAAR6 Synonymous SNV Y274Y 0.007 0 0 0 8 0 0 0 0 0 0 0 0.674 143213 chr17 76498557 76498557 C T rs558051651 DNAH17-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.494 143214 chr6 70042892 70042892 C G rs760637883 ADGRB3 Nonsynonymous SNV H1060Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 143215 chr16 84493913 84493913 G A rs932412080 ATP2C2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.162 143216 chr17 76565555 76565555 C T rs144524797 DNAH17 Nonsynonymous SNV E367K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 143217 chr17 77914871 77914871 G A rs143150886 TBC1D16 Synonymous SNV P322P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.42 143218 chr6 70916682 70916682 G A COL19A1 Nonsynonymous SNV A1101T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 143219 chr16 85696635 85696635 A T rs61751198 GSE1 Nonsynonymous SNV E666V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27 143220 chr16 86580256 86580256 C T rs758058003 MTHFSD 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 143221 chr18 51800414 51800414 T C POLI Synonymous SNV N78N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.214 143222 chr9 128321981 128321981 C T rs148671305 MAPKAP1 Nonsynonymous SNV S68N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.7 143223 chr6 76386847 76386847 A C SENP6 Nonsynonymous SNV N568H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 143224 chr9 128509766 128509766 G A PBX3 Nonsynonymous SNV A12T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 143225 chr9 130117752 130117752 G A GARNL3 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 143226 chr6 149900035 149900035 T A rs148558124 GINM1 Nonsynonymous SNV W119R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 143227 chr7 128632053 128632053 G A TNPO3 Nonsynonymous SNV P453L 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 143228 chr18 55273151 55273151 T C rs79435773 NARS1 Nonsynonymous SNV I397V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 143229 chr17 78319437 78319437 C T rs140757899 RNF213 Synonymous SNV S2434S 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 Benign 14.8 143230 chr18 56204417 56204417 G A rs773050045 ALPK2 Nonsynonymous SNV A1001V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.004 143231 chr17 78968837 78968837 C A rs146625286 CHMP6 Synonymous SNV L64L 0.006 0 0.014 2 7 0 0.005 4 0 0 0 0 9.249 143232 chr17 10312861 10312861 A G rs144596237 MYH8 Synonymous SNV P544P 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 Benign/Likely benign 2.066 143233 chr6 89913188 89913188 G A rs1010425415 GABRR1 Stop gain R47X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 143234 chr6 90572802 90572802 A G CASP8AP2 Synonymous SNV E458E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 143235 chr6 86333829 86333829 T C SYNCRIP Nonsynonymous SNV Y125C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.19 143236 chr6 87725388 87725388 C T rs149730229 HTR1E Synonymous SNV H112H 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 Likely benign 5.21 143237 chr7 135612041 135612041 G A rs931538111 LUZP6 Nonsynonymous SNV T53M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.15 143238 chr7 141536966 141536966 G T PRSS37 Nonsynonymous SNV S171R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.05 143239 chr9 131859566 131859566 C T rs375621196 CRAT Nonsynonymous SNV R497Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 143240 chr7 141860953 141860953 G A rs767610531 MGAM2 Nonsynonymous SNV A792T 0 0.003 0 0 0 1 0 0 0 0 0 0 29 143241 chr6 90406217 90406217 G A rs764591106 MDN1 Nonsynonymous SNV P3082L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.33 143242 chr19 18235077 18235077 C T rs367968102 MAST3 Synonymous SNV A253A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.5 143243 chr9 134073597 134073597 G C NUP214 Synonymous SNV T398T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.449 143244 chr9 134073598 134073598 G C NUP214 Nonsynonymous SNV G399R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.63 143245 chr18 70417634 70417634 C T rs149193005 NETO1 Nonsynonymous SNV G402R 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 23.4 143246 chr7 149490447 149490447 C T rs200083280 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 143247 chr6 159166606 159166606 G T rs199560956 SYTL3 Nonsynonymous SNV C111F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.2 143248 chr18 72245535 72245535 C A rs148980253 CNDP1 Nonsynonymous SNV H380Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 143249 chr7 141619372 141619372 G C OR9A4 Nonsynonymous SNV G233R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.8 143250 chr17 11840768 11840768 C T rs773278004 DNAH9 Nonsynonymous SNV R509C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 143251 chr7 143054095 143054095 T C rs371507154 FAM131B Nonsynonymous SNV M117V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.323 143252 chr6 161007548 161007548 C T LPA Nonsynonymous SNV M1354I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.818 143253 chr19 687000 687000 G T rs904496968 PRSS57 Nonsynonymous SNV S189R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.664 143254 chr19 885998 885998 G A MED16 Synonymous SNV D217D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 143255 chr17 1631439 1631439 G C rs62090046 WDR81 Synonymous SNV L1062L 0.003 0 0.01 4 4 0 0.01 3 0 0 0 0 5.08 143256 chr17 16347426 16347426 C T rs200809296 LRRC75A Nonsynonymous SNV R132Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26 143257 chr18 9887829 9887829 A G TXNDC2 Synonymous SNV K451K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.071 143258 chr7 154760223 154760223 G A rs1055680929 PAXIP1 Nonsynonymous SNV A563V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.48 143259 chr9 139089235 139089235 C A rs760681011 LHX3 Nonsynonymous SNV G366V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 143260 chr6 168461534 168461534 C T rs73262843 FRMD1 Nonsynonymous SNV V349M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.402 143261 chr7 149505648 149505648 C A SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 9.199 143262 chr9 139276495 139276495 T C SNAPC4 Nonsynonymous SNV T700A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 143263 chr17 17697404 17697404 C T rs113208290 RAI1 Nonsynonymous SNV A381V 0.006 0 0.01 4 7 0 0.01 3 0 0 0 1 Benign 21.4 143264 chr7 149528333 149528333 C T rs777991510 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 14.67 143265 chr17 26696355 26696355 G A rs142795974 VTN Synonymous SNV A208A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.35 143266 chr18 13645161 13645161 A C rs79601026 LDLRAD4 Synonymous SNV T87T 0.001 0.01 0.01 2 1 4 0.005 3 0 0 0 0 0.019 143267 chr18 13884735 13884735 G A rs367600888 MC2R Synonymous SNV N261N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.795 143268 chr17 26906207 26906207 T C rs111723186 SPAG5 Synonymous SNV K1023K 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.04 143269 chr17 26959136 26959136 T C rs369592935 KIAA0100 Synonymous SNV K1166K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.528 143270 chr17 27031066 27031066 G A rs140256102 PROCA1 Nonsynonymous SNV T58I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.052 143271 chr17 18880965 18880965 G T rs377667225 FAM83G Synonymous SNV R672R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.99 143272 chr17 27052557 27052557 T A rs116638249 TLCD1 Nonsynonymous SNV L26F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.3 143273 chr7 150501949 150501949 G A TMEM176A Nonsynonymous SNV G234E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.081 143274 chr7 150761318 150761318 G A rs142515597 SLC4A2 Synonymous SNV T18T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.879 143275 chr19 1918277 1918277 C T rs756867314 SCAMP4 Synonymous SNV A52A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.05 143276 chr19 2039825 2039825 G A rs145205605 MKNK2 Synonymous SNV F395F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 143277 chr19 2210410 2210410 G A DOT1L Synonymous SNV E339E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 143278 chr7 150934757 150934757 G A rs768923356 CHPF2 Nonsynonymous SNV D437N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 143279 chr7 1533445 1533445 G A rs769180230 INTS1 Synonymous SNV D671D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.612 143280 chr7 23239084 23239084 A C rs771507036 NUP42 Nonsynonymous SNV D203A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.39 143281 chr9 140358578 140358578 C T rs201862577 PNPLA7 Nonsynonymous SNV G1051S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 143282 chr18 31684095 31684095 G A NOL4 Synonymous SNV T185T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.1 143283 chr6 26020951 26020951 C G rs780375359 H3C1 Nonsynonymous SNV D78E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.02 143284 chr6 26108151 26108151 T C rs41266795 H1-6 Synonymous SNV E57E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 143285 chr17 2278927 2278927 C T SGSM2 Nonsynonymous SNV P703S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 143286 chr17 25757053 25757053 G A rs79665455 TBC1D3P5 0 0 0.048 0 0 0 0 14 0 0 5 0 0.548 143287 chr17 35580480 35580480 T C rs754418199 ACACA Nonsynonymous SNV N1078D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 143288 chr6 26204954 26204954 C T rs376989143 H4C5 Stop gain Q28X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 143289 chr7 157046707 157046707 G A rs150266636 UBE3C Synonymous SNV A918A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.81 143290 chr19 3730534 3730534 G A rs746555136 TJP3 Nonsynonymous SNV R148Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 143291 chr19 3752874 3752874 A C rs8102086 APBA3 Nonsynonymous SNV C376G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.02 143292 chr19 3754338 3754338 A C rs55941146 APBA3 Nonsynonymous SNV V206G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 22.6 143293 chr17 36499317 36499317 C T GPR179 Nonsynonymous SNV R119H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 143294 chr19 3821410 3821410 T A rs749793987 ZFR2 Nonsynonymous SNV E520V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.097 143295 chr7 27224470 27224470 G T rs777044854 HOXA11 Nonsynonymous SNV S98R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 143296 chr17 27033729 27033729 C T rs1012074001 PROCA1 Synonymous SNV A22A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 143297 chr6 27925812 27925812 C T OR2B6 Nonsynonymous SNV P265L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.42 143298 chr18 44085878 44085878 T C LOXHD1 Nonsynonymous SNV N173S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.784 143299 chr17 28505167 28505167 A G rs143842750 NSRP1 Nonsynonymous SNV K30E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 143300 chr17 37883999 37883999 T G rs757037466 ERBB2 Nonsynonymous SNV L1157R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.009 143301 chr7 107600945 107600945 A T rs769388630 LAMB1 Nonsynonymous SNV D753E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.8 143302 chr7 103969449 103969449 G C rs376715520 LHFPL3 Synonymous SNV G74G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.26 143303 chr17 33881770 33881770 A - rs71366455 LOC107985033 0.001 0 0.031 0 1 0 0 9 0 0 0 0 143304 chr19 5724874 5724874 G T rs769851297 CATSPERD 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 143305 chr19 6312239 6312239 C T rs909462126 ACER1 Nonsynonymous SNV A91T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 143306 chr18 56936477 56936477 G A rs760516983 RAX Nonsynonymous SNV A267V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.22 143307 chr17 36622578 36622578 C A ARHGAP23 Nonsynonymous SNV D218E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 143308 chr9 5922393 5922393 A C KIAA2026 Synonymous SNV V1201V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 143309 chr7 129989828 129989828 C T rs142700011 CPA5 Nonsynonymous SNV R71C 0.003 0 0 0 4 0 0 0 0 0 0 0 31 143310 chr7 131191031 131191031 A C rs147338873 PODXL Nonsynonymous SNV D401E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 143311 chr6 42237081 42237081 C T TRERF1 Nonsynonymous SNV G83E 0.004 0.008 0 0 5 3 0 0 0 0 0 0 12.46 143312 chr18 65179057 65179057 G A rs149230013 DSEL Nonsynonymous SNV T930I 0 0 0 1 0 0 0.003 0 0 0 0 0 23 143313 chr7 40027246 40027246 A G rs139746338 CDK13 Synonymous SNV S420S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 3.006 143314 chr6 44198194 44198194 G A rs140073112 SLC29A1 Nonsynonymous SNV V215M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 143315 chr19 8316098 8316098 G C CERS4 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.443 143316 chr19 8509909 8509909 G A HNRNPM Synonymous SNV A9A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 143317 chr17 38975326 38975326 - GAAC KRT10 Frameshift insertion H487Qfs*95 0 0 0.003 0 0 0 0 1 0 0 0 0 143318 chr18 74625838 74625838 C T rs199684371 ZNF236 Synonymous SNV H1015H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 143319 chr17 42452054 42452054 C T rs5913 ITGA2B Synonymous SNV P972P 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 Benign/Likely benign 10.53 143320 chr17 39296370 39296370 A T rs750466229 KRTAP4-6 Nonsynonymous SNV C124S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 143321 chr17 45438848 45438848 G A EFCAB13 Nonsynonymous SNV E256K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 143322 chr19 846355 846355 G A rs148200539 PRTN3 Nonsynonymous SNV R193H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.07 143323 chr19 9046271 9046271 G A rs144987884 MUC16 Nonsynonymous SNV P11787L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.29 143324 chr7 141341124 141341124 C A rs142779190 AGK Nonsynonymous SNV T268N 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 Uncertain significance 10.08 143325 chr7 1484507 1484507 G A rs368819552 MICALL2 Nonsynonymous SNV T400M 0.007 0 0 0 8 0 0 0 0 0 0 0 19.8 143326 chr7 141619283 141619283 C G OR9A4 Nonsynonymous SNV A203G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 143327 chr6 54002273 54002273 G C rs1028510015 MLIP Nonsynonymous SNV C458S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.14 143328 chr6 54804653 54804653 A C rs149509070 FAM83B Nonsynonymous SNV K295T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.83 143329 chr19 9062081 9062081 G A rs201528861 MUC16 Synonymous SNV S8455S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.223 143330 chr19 9065811 9065811 A C rs754189292 MUC16 Nonsynonymous SNV M7212R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 143331 chr7 65441154 65441154 T G rs150086524 GUSB Nonsynonymous SNV N35H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.266 143332 chr6 56420570 56420570 A T rs199986238 DST Synonymous SNV I2280I 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.015 143333 chrX 109694468 109694468 T C rs144726953 RTL9 Nonsynonymous SNV M208T 0.004 0 0 2 5 0 0.005 0 2 0 0 0 1.561 143334 chr17 48917612 48917612 G A rs553573836 WFIKKN2 Synonymous SNV T228T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.212 143335 chrX 123637493 123637493 A G rs199794007 TENM1 Nonsynonymous SNV V1121A 0.003 0 0 0 4 0 0 0 2 0 0 0 11.32 143336 chr7 143097030 143097030 G A rs759046453 EPHA1 Synonymous SNV L183L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 143337 chr7 151573595 151573595 A T rs144426409 PRKAG2 Synonymous SNV I37I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.157 143338 chr17 40262810 40262810 C A rs199844647 DHX58 Synonymous SNV L164L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 143339 chr17 40344264 40344264 G A rs144884315 GHDC Nonsynonymous SNV S295L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 143340 chr19 1085813 1085813 C T ARHGAP45 Synonymous SNV G708G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.764 143341 chr19 9730115 9730115 C T rs770801685 ZNF561 Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.639 143342 chr17 56565095 56565095 C T rs576559569 HSF5 Nonsynonymous SNV E181K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 143343 chr7 149488719 149488719 C T rs147198965 SSPO 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.76 143344 chr7 149488786 149488786 C G rs140538010 SSPO 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.41 143345 chr7 149489003 149489003 G - rs372009984 SSPO 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 143346 chrX 140993856 140993856 G C rs147171399 MAGEC1 Nonsynonymous SNV Q222H 0.004 0 0 1 5 0 0.003 0 2 0 0 0 6.275 143347 chr17 41448680 41448680 G A rs11656940 LINC00910 0 0 0.017 0 0 0 0 5 0 0 0 0 9.531 143348 chrX 140993875 140993875 G C rs79206435 MAGEC1 Nonsynonymous SNV A229P 0.01 0.008 0.003 4 12 3 0.01 1 3 1 0 0 0.134 143349 chr7 6660980 6660980 C G rs555898212 ZNF853 Nonsynonymous SNV Q105E 0.003 0 0 0 3 0 0 0 0 0 0 0 12.26 143350 chr7 73602049 73602049 C A EIF4H Synonymous SNV G56G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.96 143351 chrX 152014912 152014912 G A rs200748828 NSDHL Nonsynonymous SNV R15Q 0.004 0.003 0 1 5 1 0.003 0 2 0 0 0 0.2 143352 chrX 152825369 152825369 G A ATP2B3 Synonymous SNV Q936Q 0.004 0.003 0 0 5 1 0 0 2 0 0 0 3.792 143353 chr6 76388577 76388577 A G rs759790963 SENP6 Nonsynonymous SNV N663S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 143354 chrX 152915754 152915754 C T DUSP9 Synonymous SNV P383P 0.004 0.003 0 0 5 1 0 0 2 0 0 0 3.19 143355 chr6 80198831 80198831 C T rs141821682 LCA5 Nonsynonymous SNV V401I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.72 143356 chr19 2733433 2733433 G A rs117131611 SLC39A3 Synonymous SNV A87A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.146 143357 chr17 45473272 45473272 C G EFCAB13 Nonsynonymous SNV T529S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 143358 chr19 11526716 11526716 C T rs746929314 RGL3 Synonymous SNV A178A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 143359 chr17 4619950 4619950 C A ARRB2 Nonsynonymous SNV T135N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 143360 chr19 12267458 12267458 C T rs959288833 ZNF625-ZNF20 0.001 0 0 0 1 0 0 0 0 0 0 0 8.22 143361 chr19 3964647 3964647 G T rs144975421 DAPK3 Synonymous SNV I135I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.916 143362 chr7 2566518 2566518 G A rs71647813 LFNG Nonsynonymous SNV V346M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.187 143363 chr19 13397461 13397461 G C rs199793367 CACNA1A Nonsynonymous SNV P1138A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.1 143364 chr7 92120808 92120808 A G rs140963147 PEX1 Synonymous SNV S1015S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.22 143365 chr19 14165714 14165714 G A PALM3 Nonsynonymous SNV A191V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 143366 chr19 14552069 14552069 A C rs770690642 PKN1 Nonsynonymous SNV I46L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 143367 chrX 30327142 30327142 G A rs750993254 NR0B1 Synonymous SNV P113P 0.006 0 0 0 7 0 0 0 3 0 0 0 7.581 143368 chr17 4795993 4795993 G A rs371377589 MINK1 Synonymous SNV S710S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 143369 chr19 4323433 4323433 G A rs777549278 FSD1 Nonsynonymous SNV R430Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.276 143370 chr7 95750586 95750586 C G rs757317844 SLC25A13 Nonsynonymous SNV G650R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 143371 chr19 4504641 4504641 C T rs776352514 PLIN4 Nonsynonymous SNV V1316M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 143372 chr17 4844217 4844217 G A RNF167, RNF167 Nonsynonymous SNV A5T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 143373 chr7 100151878 100151878 G T rs368144368 AGFG2 Nonsynonymous SNV G250W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 143374 chr8 100454804 100454804 A G rs61759485 VPS13B Nonsynonymous SNV K1129R 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.75 143375 chr17 48741427 48741427 G T ABCC3 Nonsynonymous SNV W431C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 143376 chr17 73236442 73236442 C T GGA3 Nonsynonymous SNV S293N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.47 143377 chrX 71427786 71427786 C T ERCC6L Synonymous SNV G277G 0.002 0 0 0 2 0 0 0 1 0 0 0 9.622 143378 chr19 5763280 5763280 T C rs771781567 CATSPERD Synonymous SNV I494I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.157 143379 chr17 73282766 73282766 A G SLC25A19 Nonsynonymous SNV L27P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 143380 chr7 97821280 97821280 G A rs368766168 LMTK2 Synonymous SNV T501T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 11.96 143381 chr8 10464692 10464692 A T rs200403049 RP1L1 Nonsynonymous SNV W2306R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.109 143382 chr8 10466873 10466873 - CTT rs142134028 RP1L1 K1578_L1579insK 0.001 0.005 0 0 1 2 0 0 0 0 0 0 143383 chr17 55183936 55183936 G A AKAP1 Nonsynonymous SNV V371I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 143384 chr19 6833228 6833228 C T rs199798227 VAV1 Synonymous SNV N482N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 143385 chr17 56393826 56393826 G A rs148012035 TSPOAP1 Nonsynonymous SNV R590W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 143386 chr8 100729474 100729474 G A rs147099791 VPS13B Nonsynonymous SNV R2202H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 28.5 143387 chr8 110416921 110416921 G A rs150799139 PKHD1L1 Synonymous SNV S504S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.69 143388 chr17 75398489 75398489 C T rs367650017 SEPTIN9 Nonsynonymous SNV T135M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 143389 chr8 110437424 110437424 C A rs117675722 PKHD1L1 Synonymous SNV G936G 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 15.02 143390 chr17 76046132 76046132 A T TNRC6C Nonsynonymous SNV H330L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 143391 chr8 110477058 110477058 G T rs200190153 PKHD1L1 Nonsynonymous SNV G2666V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 143392 chr17 60742041 60742041 G A rs771853835 MRC2 Nonsynonymous SNV R84Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 143393 chr7 44576536 44576536 G A rs150464392 NPC1L1 Nonsynonymous SNV P529L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 143394 chr7 44579467 44579467 C T rs149017550 NPC1L1 Nonsynonymous SNV V177I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 0.003 143395 chr17 76433797 76433797 C T rs368122623 DNAH17 Nonsynonymous SNV A3987T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 143396 chr10 103543079 103543079 G A rs759412526 NPM3 Synonymous SNV V23V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 143397 chr10 103917863 103917868 TCTGAT - rs767738089 NOLC1 D172_S173del 0 0.003 0 0 0 1 0 0 0 0 0 0 143398 chr8 10468407 10468407 G A rs200462441 RP1L1 Synonymous SNV G1067G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.932 143399 chr7 45222921 45222921 C T RAMP3 Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.128 143400 chr19 18279948 18279948 C G PIK3R2 Nonsynonymous SNV F677L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 143401 chr7 47913548 47913548 A T rs138130715 PKD1L1 Nonsynonymous SNV V1282E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.427 143402 chr8 10480314 10480314 T C rs780152398 RP1L1 Nonsynonymous SNV E133G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 143403 chr19 18391936 18391936 C G rs763805694 JUND Nonsynonymous SNV S77T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 143404 chr19 19042432 19042433 CA - HOMER3 V195Gfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 143405 chr8 126044499 126044499 C T rs138407503 WASHC5 Nonsynonymous SNV V959M 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 Benign/Likely benign 22.3 143406 chr10 111872643 111872643 T C rs41291886 ADD3 Nonsynonymous SNV S102P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign/Likely benign 23.9 143407 chr8 13133788 13133788 C G rs933838516 DLC1 Nonsynonymous SNV R41T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 16.94 143408 chr17 6704182 6704182 C A rs77092590 TEKT1 Nonsynonymous SNV K311N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 143409 chr10 114057872 114057872 T C rs55796896 TECTB Synonymous SNV D239D 0.011 0.018 0.014 6 13 7 0.015 4 0 0 0 0 2.473 143410 chr7 50607592 50607592 G A rs201345722 DDC-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.06 143411 chr17 78359407 78359407 C T rs190856573 RNF213 Nonsynonymous SNV S4842L 0 0.003 0 0 0 1 0 0 0 0 0 0 29 143412 chr7 44161638 44161638 C G rs148158174 POLD2 Nonsynonymous SNV Q5H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 143413 chr7 44444120 44444120 G A rs149142396 NUDCD3 Synonymous SNV R235R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.87 143414 chr7 44578922 44578922 T C NPC1L1 Synonymous SNV L358L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 143415 chr7 6029571 6029571 T C rs200513014 PMS2 Nonsynonymous SNV N229S 0.007 0 0 0 8 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 143416 chr17 79219518 79219518 C T rs201014536 SLC38A10 Synonymous SNV P1066P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.862 143417 chr17 72206252 72206252 G A rs139039378 MGC16275 0 0 0.017 0 0 0 0 5 0 0 1 0 0.232 143418 chr17 7249722 7249724 GTG - ACAP1 V309del 0 0 0.003 0 0 0 0 1 0 0 0 0 143419 chr8 143783115 143783115 C T rs116956821 LY6K Synonymous SNV C67C 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 9.666 143420 chr7 123105006 123105006 G A rs199522362 IQUB Nonsynonymous SNV L547F 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 29.6 143421 chr17 73519795 73519795 C T rs763099057 TSEN54 Synonymous SNV A455A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 143422 chr19 55696920 55696920 C A rs147411515 PTPRH Synonymous SNV R826R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.759 143423 chr19 36109312 36109312 C A rs2285412 HAUS5 Nonsynonymous SNV A277D 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 23.2 143424 chr19 36133528 36133528 T G rs2285418 ETV2 Nonsynonymous SNV L28V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 11.33 143425 chr8 144798561 144798561 T C rs781838103 MAPK15 Nonsynonymous SNV V5A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 143426 chr19 36616649 36616649 T C TBCB Nonsynonymous SNV F234L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 143427 chr7 128487886 128487886 C T rs369305865 FLNC Nonsynonymous SNV A1475V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 35 143428 chr17 74392249 74392249 G A rs76110889 UBE2O Synonymous SNV S923S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.62 143429 chr8 144941175 144941175 A G EPPK1 Nonsynonymous SNV F2083L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.469 143430 chr19 37643635 37643635 T C rs140880623 ZNF585A Nonsynonymous SNV K389R 0.006 0 0.007 0 7 0 0 2 0 0 0 0 21 143431 chr19 37677350 37677350 A G rs142715107 ZNF585B Synonymous SNV F363F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 6.421 143432 chr19 37726466 37726466 A G rs148666375 ZNF383 Nonsynonymous SNV S9G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 143433 chr17 7507083 7507083 C G FXR2 Synonymous SNV L147L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 143434 chr19 14584317 14584317 G A rs3745459 PTGER1 Synonymous SNV A272A 0.003 0 0.014 2 3 0 0.005 4 0 0 0 0 1 143435 chr17 76094497 76094497 A G rs200084854 TNRC6C Synonymous SNV E1460E 0 0 0.014 1 0 0 0.003 4 0 0 0 0 10.04 143436 chr17 76374763 76374763 C T rs200541156 PGS1 Nonsynonymous SNV A6V 0.003 0 0.007 0 3 0 0 2 0 0 1 0 20.3 143437 chr19 56538727 56538727 G A NLRP5 Synonymous SNV K376K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.123 143438 chr7 91632454 91632454 T C rs143712699 AKAP9 Synonymous SNV L1075L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.219 143439 chr19 39877030 39877032 CTC - rs780646492 PAF1 E399del 0.001 0 0 0 1 0 0 0 0 0 0 0 143440 chr19 39906003 39906003 G C rs147871368 PLEKHG2 Nonsynonymous SNV G76R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 143441 chr7 138333819 138333819 C T rs150440671 SVOPL Nonsynonymous SNV G48R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 29.9 143442 chr7 138555922 138555922 C G rs61744110 KIAA1549 Nonsynonymous SNV S1511T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.04 143443 chr7 138601573 138601573 G A rs61995719 KIAA1549 Synonymous SNV V933V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.349 143444 chr18 12831011 12831011 G C rs768576389 PTPN2 Nonsynonymous SNV F68L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 143445 chr17 77709393 77709393 G - ENPP7 A318Pfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 143446 chr17 77755652 77755652 G T rs201168057 CBX2 Nonsynonymous SNV V114L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.854 143447 chr19 40540811 40540811 C T rs777399936 ZNF780B Nonsynonymous SNV R652H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 143448 chr19 15285063 15285063 G T rs141320511 NOTCH3 Nonsynonymous SNV L1518M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 27.8 143449 chr17 78063944 78063974 TGCAGAACAACACAGGACGCACACAGGCACG - CCDC40 R948Tfs*84 0 0 0.003 0 0 0 0 1 0 0 0 0 143450 chr19 15480981 15480981 G A rs34063092 AKAP8 Nonsynonymous SNV L350F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.016 143451 chr7 88423596 88423596 C T rs2373397 TEX47 Nonsynonymous SNV E221K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.416 143452 chr8 17533794 17533794 T C rs574354959 MTUS1 Synonymous SNV A15A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.455 143453 chr17 7916485 7916485 C T rs377648185 GUCY2D Synonymous SNV A726A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.2 143454 chr19 42260598 42260598 T C CEACAM6 Nonsynonymous SNV L52P 0.001 0 0 0 1 0 0 0 0 0 0 0 21 143455 chr19 16910747 16910747 C T rs112320677 NWD1 Synonymous SNV V964V 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 15.45 143456 chr17 79860350 79860350 G C NPB Nonsynonymous SNV G66A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 143457 chr17 79910942 79910942 G A rs145943956 NOTUM Synonymous SNV N462N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.26 143458 chr7 92765000 92765000 C T rs183453750 SAMD9L Synonymous SNV P95P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.582 143459 chr8 145698667 145698667 C T rs142968278 KIFC2 Nonsynonymous SNV P784L 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 143460 chr20 633682 633682 T C rs140994111 SRXN1 Nonsynonymous SNV I50V 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 10.12 143461 chr18 43319206 43319206 G A rs763095261 SLC14A1 Nonsynonymous SNV A116T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 143462 chr8 1857556 1857556 G A rs143290224 ARHGEF10 Nonsynonymous SNV S650N 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 Uncertain significance 0.009 143463 chr8 1949499 1949499 A G rs183228973 KBTBD11 Synonymous SNV E47E 0.008 0.005 0 0 9 2 0 0 0 0 0 0 0.966 143464 chr8 1950756 1950756 C T rs146666228 KBTBD11 Synonymous SNV L466L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.11 143465 chr8 23709008 23709008 C T rs200490221 STC1 Nonsynonymous SNV A100T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 143466 chr19 45716467 45716467 G C rs142412403 EXOC3L2 Nonsynonymous SNV P364A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 143467 chr19 46299147 46299149 CCT - rs755321677 RSPH6A E711del 0.001 0 0 0 1 0 0 0 0 0 0 0 143468 chr8 26366181 26366181 C G PNMA2 Nonsynonymous SNV E31Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 143469 chr8 22487989 22487989 G A rs780198309 BIN3 Nonsynonymous SNV A40V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 21.3 143470 chr18 13100479 13100479 C G rs751975862 CEP192 Nonsynonymous SNV T2280S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 143471 chr19 47884463 47884463 C T rs113958742 DHX34 Synonymous SNV S1060S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 14.41 143472 chr19 47940816 47940816 G A rs558246566 SLC8A2 Synonymous SNV N671N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 143473 chr19 48047664 48047664 G T rs114027430 ZNF541 Nonsynonymous SNV P708T 0.006 0.003 0.02 2 7 1 0.005 6 0 0 0 0 0.003 143474 chr7 1586663 1586663 - CC rs3837151 TMEM184A Frameshift insertion S390Afs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 143475 chr7 1586664 1586664 - A TMEM184A Frameshift insertion P389Lfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 143476 chr8 28974364 28974364 T C rs36068949 KIF13B Nonsynonymous SNV N1274S 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 Benign 0.056 143477 chr18 20815915 20815915 T C rs750897563 CABLES1 Synonymous SNV N414N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.723 143478 chr10 33209284 33209284 G A rs199940049 ITGB1 Synonymous SNV N386N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.77 143479 chr8 29043865 29043865 T C rs36011290 KIF13B Synonymous SNV E147E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.9 143480 chr7 16734476 16734476 C A BZW2 Nonsynonymous SNV N29K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 143481 chr8 23174562 23174562 C T rs141290588 LOXL2 Synonymous SNV S512S 0.003 0 0 0 4 0 0 0 0 0 0 0 21.5 143482 chr10 35897155 35897155 G A rs867452720 GJD4 Synonymous SNV K238K 0 0.005 0 0 0 2 0 0 0 0 0 0 8.721 143483 chr8 11667287 11667287 C A rs574536561 FDFT1 Nonsynonymous SNV F162L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 143484 chr19 48607918 48607918 C A rs144670307 PLA2G4C Nonsynonymous SNV V72F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 143485 chr8 117950724 117950724 - GGCGGCGGCGGC AARD A88_R89insAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 143486 chr8 139165118 139165118 C T rs765327216 FAM135B Nonsynonymous SNV V534M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.573 143487 chr8 139190809 139190809 G T FAM135B Nonsynonymous SNV T333N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 143488 chr8 39521335 39521336 TG - ADAM18 Stop gain C394* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 143489 chr8 39606929 39606929 T C rs113117613 ADAM2 Nonsynonymous SNV Y620C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.6 143490 chr8 49987719 49987719 T G rs180910379 PPDPFL Nonsynonymous SNV M81R 0.008 0.005 0.014 1 9 2 0.003 4 0 0 0 0 4.426 143491 chr19 49377273 49377273 G A rs138912909 PPP1R15A Synonymous SNV E261E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.104 143492 chr8 53062336 53062336 T C ST18 Nonsynonymous SNV I670V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.993 143493 chr8 55534024 55534024 G A rs267601947 RP1 Synonymous SNV T166T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.9 143494 chr18 32887591 32887591 A G rs56085501 ZNF271P 0 0 0.02 0 0 0 0 6 0 0 0 0 3.111 143495 chr8 61769435 61769435 G A rs375969680 CHD7 Synonymous SNV T2532T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.86 143496 chr18 33283514 33283514 C T rs77648082 GALNT1 Synonymous SNV D480D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.45 143497 chr19 49489230 49489230 G A rs2229612 GYS1 Synonymous SNV G121G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.63 143498 chr19 49490523 49490523 T C rs5458 GYS1 Synonymous SNV G140G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 1.01 143499 chr8 144358347 144358347 C G rs770910881 GLI4 Nonsynonymous SNV N168K 0.003 0 0 0 3 0 0 0 0 0 0 0 19.17 143500 chr18 77246394 77246394 G A rs139715685 NFATC1 Nonsynonymous SNV G275S 0.007 0.003 0.017 0 8 1 0 5 0 0 1 0 16.99 143501 chr19 49878275 49878275 G A rs35389403 DKKL1 Nonsynonymous SNV R209Q 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 Benign 7.618 143502 chr18 34081919 34081919 G A rs374440269 FHOD3 Nonsynonymous SNV R121Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 143503 chr19 49920719 49920719 C T rs79452032 CCDC155 Synonymous SNV P547P 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 13.25 143504 chr18 40850605 40850605 C T rs542355036 SYT4 Nonsynonymous SNV V327I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 143505 chr19 407324 407324 C T C2CD4C Synonymous SNV V346V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 10.72 143506 chr19 50455202 50455202 G A rs112796514 SIGLEC11 Synonymous SNV R496R 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Benign 0.803 143507 chr19 50823975 50823975 T G KCNC3 Nonsynonymous SNV Q606P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 143508 chr10 5957531 5957531 G A rs149880430 FBH1 Nonsynonymous SNV R447Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 143509 chr8 140744260 140744260 C T rs141067069 TRAPPC9 Nonsynonymous SNV V1072I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.235 143510 chr8 87163752 87163752 G A rs138573520 ATP6V0D2 Nonsynonymous SNV V292M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 143511 chr19 51584867 51584867 C T rs61750927 KLK14 Nonsynonymous SNV G45D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 143512 chr8 68070716 68070716 G A rs763911288 CSPP1 Nonsynonymous SNV R409Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.9 143513 chr19 38378476 38378478 CTT - rs868031275 WDR87 K1945del 0 0 0 1 0 0 0.003 0 0 0 0 0 143514 chr18 56184336 56184336 C T rs140586410 ALPK2 Nonsynonymous SNV R1915H 0 0 0.003 0 0 0 0 1 0 0 0 0 21 143515 chr8 143746318 143746318 G T JRK Nonsynonymous SNV P387Q 0.004 0 0 0 5 0 0 0 0 0 0 0 10.84 143516 chr7 44247770 44247770 C T rs758181820 YKT6 Synonymous SNV A144A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 143517 chr8 95531310 95531310 G A rs139266529 VIRMA Nonsynonymous SNV P806S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 12.84 143518 chr19 39019315 39019315 C A rs765145018 RYR1 Nonsynonymous SNV R3667S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 143519 chr20 33587629 33587629 G C MYH7B Synonymous SNV R1609R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.649 143520 chr7 45109550 45109550 C T rs199682975 CCM2 Synonymous SNV S187S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 18.43 143521 chr8 81412049 81412049 C T rs200216813 ZBTB10 Synonymous SNV L431L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.797 143522 chr19 52217244 52217244 C T HAS1 Synonymous SNV A390A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 143523 chr18 56367757 56367757 A G MALT1 Nonsynonymous SNV N195D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.205 143524 chr19 39898598 39898598 T G rs759746703 ZFP36 Synonymous SNV A80A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.105 143525 chr7 45930243 45930243 C A rs753700859 IGFBP1 Nonsynonymous SNV S149Y 0.002 0 0 0 2 0 0 0 0 0 0 0 19.3 143526 chr10 72300891 72300891 G A rs61747986 PALD1 Nonsynonymous SNV A648T 0.005 0.005 0 0 6 2 0 0 0 0 0 0 12.32 143527 chr18 59954663 59954663 G T RELCH Synonymous SNV T1111T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 143528 chr19 1913010 1913010 G A rs748867878 ADAT3 Nonsynonymous SNV V306I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.3 143529 chr19 40354518 40354518 T C rs146042671 FCGBP Synonymous SNV R5317R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.398 143530 chr19 40364195 40364195 C T rs778054551 FCGBP Nonsynonymous SNV R4816H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 143531 chr18 60572489 60572489 A C rs201790218 PHLPP1 Nonsynonymous SNV N894H 0 0 0.01 1 0 0 0.003 3 0 0 0 0 22.6 143532 chr8 90770309 90770309 C G rs891468710 RIPK2 Nonsynonymous SNV C7W 0.003 0 0 0 3 0 0 0 0 0 0 0 31 143533 chr19 52857544 52857544 G A ZNF610 Synonymous SNV K77K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.15 143534 chr7 50771550 50771550 G A rs35647889 GRB10 Nonsynonymous SNV P36L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 7.607 143535 chr7 51095665 51095665 G A rs142891237 COBL Nonsynonymous SNV A1043V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 143536 chr7 51152921 51152921 C T rs115794136 COBL Synonymous SNV P346P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 143537 chr19 42776835 42776835 C T rs73552879 CIC Synonymous SNV L300L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 7.825 143538 chr18 72264611 72264611 C T LINC00909 0 0 0.003 0 0 0 0 1 0 0 0 0 8.85 143539 chr10 75532119 75532119 T G rs140951394 FUT11 Nonsynonymous SNV L10V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.798 143540 chr8 19819671 19819671 A C rs151194635 LPL Synonymous SNV G456G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 6.658 143541 chr9 112018082 112018082 G A EPB41L4B Nonsynonymous SNV T324I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 143542 chr19 42873089 42873089 G A rs10425783 MEGF8 Synonymous SNV T2125T 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 7.418 143543 chr19 42874900 42874900 C T rs28483598 MEGF8 Synonymous SNV C2284C 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 15.69 143544 chr19 42906914 42906914 G T rs7246232 LIPE Nonsynonymous SNV R938S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 0.002 143545 chr19 42910416 42910416 C T rs28657829 LIPE Synonymous SNV P754P 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 13.43 143546 chr19 42911558 42911558 C T rs2229614 LIPE Synonymous SNV P635P 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 15.13 143547 chr19 42931004 42931004 A G rs16975750 LIPE Nonsynonymous SNV Y100H 0.001 0.003 0.02 2 1 1 0.005 6 0 0 1 0 0.018 143548 chr7 550600 550600 G A rs764528205 PDGFA Nonsynonymous SNV T100M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27 143549 chr19 43031248 43031248 T G rs8111468 CEACAM1 Nonsynonymous SNV Q123H 0.003 0.003 0.02 2 3 1 0.005 6 0 0 0 0 0.02 143550 chr10 75898105 75898105 G A rs138845020 AP3M1 Synonymous SNV S11S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 143551 chr19 43031369 43031369 G A rs8110904 CEACAM1 Nonsynonymous SNV A83V 0.003 0.003 0.02 2 3 1 0.005 6 0 0 0 0 0.001 143552 chr19 43031514 43031514 G T rs8111171 CEACAM1 Nonsynonymous SNV Q35K 0.003 0.003 0.02 2 4 1 0.005 6 0 0 0 0 2.85 143553 chr19 43087428 43087428 A C rs8103051 CEACAM8 Nonsynonymous SNV I340M 0.002 0.003 0.014 2 2 1 0.005 4 0 0 0 0 9.993 143554 chr19 43093718 43093718 C T rs10413332 CEACAM8 Synonymous SNV R198R 0.001 0.003 0.014 2 1 1 0.005 4 0 0 0 0 9.257 143555 chr19 43093793 43093793 G A rs10418988 CEACAM8 Synonymous SNV N173N 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 3.946 143556 chr19 43098931 43098931 C A rs28367882 CEACAM8 Nonsynonymous SNV G17V 0.001 0.003 0.014 2 1 1 0.005 4 0 0 0 0 20.6 143557 chr19 4207239 4207239 C T rs376848587 ANKRD24 Nonsynonymous SNV A156V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.3 143558 chr8 21981265 21981265 G T rs755743102 HR Nonsynonymous SNV H604Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 143559 chr7 6194641 6194641 C A rs200300286 USP42 Nonsynonymous SNV H1152Q 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 12.88 143560 chr18 8786012 8786012 G A rs201927020 MTCL1 Nonsynonymous SNV A604T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 143561 chr19 44417896 44417896 G A rs998200613 ZNF45 Synonymous SNV G564G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.72 143562 chr8 22472512 22472512 G A rs147002132 CCAR2 Synonymous SNV K401K 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 15.47 143563 chr7 720340 720340 C G PRKAR1B Synonymous SNV A67A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.437 143564 chr8 23560521 23560521 - GCCGCTGTT rs780012501 NKX2-6 G116_D117insNSG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 143565 chr7 73480050 73480050 G A rs782535492 ELN Nonsynonymous SNV A593T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 143566 chr7 73636018 73636018 A G rs11544217 LAT2 Synonymous SNV P128P 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 0.024 143567 chr7 73654360 73654360 T G rs1805392 RFC2 Synonymous SNV R98R 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign 2.856 143568 chr7 73752812 73752812 C T rs112253688 CLIP2 Synonymous SNV S52S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 14.65 143569 chr7 73753025 73753025 G A rs112969082 CLIP2 Synonymous SNV A123A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 11.15 143570 chr7 73753133 73753133 C T rs111609508 CLIP2 Synonymous SNV H159H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 9.961 143571 chr7 74482590 74482590 T C rs782549630 RCC1L Nonsynonymous SNV Y157C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 143572 chr10 90767507 90767507 G A rs199790261 FAS Nonsynonymous SNV V83M 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 19.14 143573 chr8 1581141 1581141 A T DLGAP2 Nonsynonymous SNV Y580F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.1 143574 chr10 91098760 91098760 T C IFIT3 Synonymous SNV Y116Y 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.002 143575 chr9 123280866 123280866 G A rs543446600 CDK5RAP2 Nonsynonymous SNV R384C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 143576 chr19 44933458 44933458 G A ZNF229 Nonsynonymous SNV H494Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.514 143577 chr19 7143089 7143089 T C rs373695282 INSR Synonymous SNV K748K 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.074 143578 chr7 81359044 81359044 A T rs767766226 HGF Nonsynonymous SNV I306N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 143579 chr9 125437756 125437756 G A rs117289796 OR1L3 Synonymous SNV A116A 0.007 0.005 0.01 5 8 2 0.013 3 0 0 0 0 13.27 143580 chr7 87069595 87069595 G A rs757088677 ABCB4 Nonsynonymous SNV R494C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 143581 chr19 11358804 11358804 G A rs369049785 DOCK6 Synonymous SNV S248S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.481 143582 chr19 11461608 11461608 T C rs764532178 CCDC159 Synonymous SNV R117R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.955 143583 chr19 11486196 11486196 G A rs201364032 SWSAP1 Nonsynonymous SNV R65H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 143584 chr19 11510631 11510631 G T rs747650026 RGL3 Nonsynonymous SNV P555H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.034 143585 chr19 11559922 11559922 G A rs201507518 PRKCSH Nonsynonymous SNV D455N 0 0 0.003 0 0 0 0 1 0 0 0 0 22 143586 chr8 38095661 38095661 A G rs772485062 DDHD2 Nonsynonymous SNV T186A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 143587 chr8 39089637 39089637 T C ADAM32 Synonymous SNV Y440Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 143588 chr7 94054939 94054939 T C rs751960243 COL1A2 Synonymous SNV D933D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.487 143589 chr8 22079256 22079256 G A rs755440911 PHYHIP Synonymous SNV Y201Y 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 1.258 143590 chr19 57036798 57036798 T C rs375130699 ZNF471 Synonymous SNV S380S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.744 143591 chr8 42977591 42977591 G C rs34040483 POMK Synonymous SNV L208L 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 Benign 0.016 143592 chr9 125281496 125281507 TGTTCTTCACCC - rs554360749 OR1J4 F28_F31del 0.001 0 0 0 1 0 0 0 0 0 0 0 143593 chr19 14024055 14024055 T A rs372824446 CC2D1A Synonymous SNV I151I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 143594 chr19 14194562 14194562 C T rs117791094 C19orf67 Nonsynonymous SNV E155K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 25.3 143595 chr19 48643270 48643270 C T rs3730947 LIG1 Nonsynonymous SNV V281M 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 26.3 143596 chr7 99091539 99091539 T C rs758447840 ZNF394 Synonymous SNV Q433Q 0.002 0 0 0 2 0 0 0 0 0 0 0 2.267 143597 chr8 59483470 59483470 C T SDCBP Nonsynonymous SNV P26S 0.002 0 0 0 2 0 0 0 0 0 0 0 23 143598 chr19 49106822 49106822 G T rs376286714 FAM83E Synonymous SNV R369R 0.002 0.01 0.003 3 2 4 0.008 1 0 0 0 0 9.837 143599 chr9 131476903 131476903 G A rs56208848 PKN3 Nonsynonymous SNV R515H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.6 143600 chr9 126794902 126794902 G T rs145536168 LHX2 Synonymous SNV T379T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.448 143601 chr19 9075387 9075387 A T rs199993445 MUC16 Nonsynonymous SNV V4020D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.315 143602 chr8 27649570 27649570 G T rs959080745 ESCO2 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.1 143603 chr19 58199099 58199099 C T rs745989173 ZNF551 Nonsynonymous SNV R458C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 143604 chr8 27779571 27779571 C A SCARA5 Nonsynonymous SNV A145S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.496 143605 chr19 49513299 49513299 C T rs145890647 RUVBL2 Synonymous SNV R179R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.65 143606 chr8 10480579 10480579 G A rs267607017 RP1L1 Nonsynonymous SNV R45W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 143607 chr19 49657890 49657892 TCC - rs766230197 HRC E204del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 143608 chr19 49657892 49657892 - TCC HRC E204_A205insE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 143609 chr19 9492390 9492390 T A ZNF177, ZNF559-ZNF177 Nonsynonymous SNV F461L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.7 143610 chr19 9578533 9578533 T C rs139994315 ZNF560 Nonsynonymous SNV N258D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.451 143611 chr19 49793508 49793508 C T rs142309154 SLC6A16 Nonsynonymous SNV G695R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.576 143612 chr9 134014669 134014669 T C rs746524024 NUP214 Nonsynonymous SNV I336T 0.009 0.005 0 2 11 2 0.005 0 0 0 0 0 4.658 143613 chr9 134070637 134070637 G A rs755064661 NUP214 Nonsynonymous SNV G52E 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 28.8 143614 chr8 74333676 74333676 T A rs145759808 STAU2 Nonsynonymous SNV K376N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.5 143615 chr19 49920678 49920678 C G rs769186062 CCDC155 Nonsynonymous SNV L534V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 143616 chr19 49920679 49920679 T G rs777055894 CCDC155 Nonsynonymous SNV L534R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 143617 chr20 826115 826115 A G rs145559998 FAM110A Nonsynonymous SNV H223R 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 4.092 143618 chr8 37699293 37699293 T C rs111828443 ADGRA2 Nonsynonymous SNV V1146A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 143619 chr9 131371527 131371527 G A rs886972447 SPTAN1 Synonymous SNV A1554A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.007 143620 chr8 82627068 82627068 G A rs958186976 ZFAND1 Nonsynonymous SNV A110V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 143621 chr21 33719468 33719468 C G URB1 Nonsynonymous SNV C1222S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.6 143622 chr9 135203183 135203183 T C rs764516725 SETX Nonsynonymous SNV I1268V 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Uncertain significance 0.004 143623 chr21 34012045 34012045 G A rs771394723 SYNJ1 Synonymous SNV H1164H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 6.412 143624 chr19 1789501 1789501 G C rs774440640 ATP8B3 Nonsynonymous SNV L865V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 143625 chr21 34715936 34715936 A G rs756135963 IFNAR1 Synonymous SNV S209S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.315 143626 chr8 95264268 95264268 A G rs558611127 GEM Nonsynonymous SNV C198R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 143627 chr19 13227005 13227005 T C rs139000025 TRMT1 Nonsynonymous SNV N70S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 23 143628 chr20 1961159 1961159 T A rs45469293 PDYN Nonsynonymous SNV E192V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 19.16 143629 chr9 134340444 134340444 A G rs201633009 PRRC2B Nonsynonymous SNV N567D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 143630 chr8 125989023 125989023 C G rs142684750 ZNF572 Nonsynonymous SNV N171K 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.38 143631 chr8 125989758 125989758 G C rs145813595 ZNF572 Nonsynonymous SNV E416D 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 12 143632 chr9 134501410 134501410 C T rs200547421 RAPGEF1 Nonsynonymous SNV G534D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.08 143633 chr9 138903505 138903505 C T rs759435250 NACC2 Nonsynonymous SNV E541K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.4 143634 chr19 19748828 19748828 G T GMIP Synonymous SNV R276R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 143635 chr20 3102739 3102739 G A rs750306545 UBOX5 Synonymous SNV G182G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.239 143636 chr19 51769032 51769032 A G rs141713421 SIGLECL1 Synonymous SNV G8G 0 0 0 2 0 0 0.005 0 0 0 0 0 5.731 143637 chr8 71044189 71044189 T G rs761971402 NCOA2 Synonymous SNV A1000A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 7.427 143638 chr9 139256470 139256470 C T rs370438651 DNLZ Synonymous SNV P177P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.412 143639 chr21 43411506 43411506 G A rs375162411 ZBTB21 Nonsynonymous SNV A900V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.9 143640 chr8 77761269 77761269 G C rs200099866 ZFHX4 Nonsynonymous SNV A1184P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 14.98 143641 chr8 77775651 77775651 G A rs199540661 ZFHX4 Nonsynonymous SNV G3234D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 143642 chr9 139391795 139391795 C G rs554843595 NOTCH1 Synonymous SNV T2132T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.209 143643 chr8 87076831 87076831 C T rs56407605 PSKH2 Nonsynonymous SNV G72D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.5 143644 chr19 288028 288028 C A PLPP2 Nonsynonymous SNV V66F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 143645 chr21 43999867 43999867 A G rs757069546 SLC37A1 Nonsynonymous SNV K515E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 143646 chr9 139879199 139879199 C T rs562318294 LCNL1 Synonymous SNV S77S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.81 143647 chr20 6090996 6090996 G A rs147864238 FERMT1 Nonsynonymous SNV A232V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 143648 chr19 31768890 31768890 G A rs138330927 TSHZ3 Synonymous SNV P603P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.962 143649 chr9 140123360 140123360 G A rs749663328 RNF224 Nonsynonymous SNV R98Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 143650 chr9 140128971 140128971 C G rs201720181 SLC34A3 Synonymous SNV V399V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 13.17 143651 chr9 101006405 101006405 T C rs61753568 TBC1D2 Nonsynonymous SNV E173G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.9 143652 chr19 34687560 34687560 T C rs149170773 LSM14A Nonsynonymous SNV S103P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 18.21 143653 chr9 141000201 141000201 C T rs41277877 CACNA1B Synonymous SNV H1790H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign 2.208 143654 chr9 14639980 14639980 T C rs775976617 ZDHHC21 Nonsynonymous SNV I82V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 143655 chr19 54310840 54310840 G A NLRP12 Synonymous SNV L719L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.401 143656 chr19 54409993 54409993 C A PRKCG Nonsynonymous SNV F646L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 143657 chr19 36054168 36054168 G A rs146116398 ATP4A Synonymous SNV N53N 0.006 0.003 0.007 0 7 1 0 2 1 0 0 0 Benign 8.345 143658 chr9 15466846 15466846 G C rs35678110 PSIP1 Nonsynonymous SNV L478V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.31 143659 chr9 16437256 16437256 G A rs77464990 BNC2 Synonymous SNV F270F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 4.252 143660 chr11 12183793 12183793 G A rs200146203 MICAL2 Nonsynonymous SNV A31T 0.001 0.01 0 4 1 4 0.01 0 0 0 0 0 31 143661 chr9 117848543 117848543 G A rs559495675 TNC Synonymous SNV D489D 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 0.253 143662 chr20 25062714 25062714 G T VSX1 Nonsynonymous SNV L7I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.53 143663 chr11 12316350 12316350 - CTCCTCCTCCTCCTCCTC MICALCL P470_T471insPPPPPP 0 0.003 0 0 0 1 0 0 0 0 0 0 143664 chr9 21334286 21334286 T C rs140019448 KLHL9 Synonymous SNV L191L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.038 143665 chr9 114172440 114172440 G A ECPAS Synonymous SNV L811L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 143666 chr19 3784400 3784400 C T rs762544633 MATK Nonsynonymous SNV R20H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 143667 chr8 145112956 145112956 T C OPLAH Nonsynonymous SNV I349V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.39 143668 chr9 116041249 116041249 A G rs1138958 PRPF4 Nonsynonymous SNV H77R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.13 143669 chr9 21141287 21141287 G A rs2230055 IFNW1 Nonsynonymous SNV R95C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 143670 chr20 37576606 37576606 T C rs200100785 FAM83D Synonymous SNV L247L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.619 143671 chr19 33240736 33240736 A G TDRD12 Synonymous SNV T181T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.648 143672 chr19 39057618 39057618 A G rs139647387 RYR1 Nonsynonymous SNV E4497G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 143673 chr9 127982839 127982839 C A rs74769898 RABEPK Nonsynonymous SNV P78Q 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 29.7 143674 chr19 39408425 39408425 G A SARS2 Synonymous SNV L367L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 143675 chr9 130493577 130493577 C G rs762740669 TTC16 Nonsynonymous SNV Q826E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 143676 chr20 43995551 43995551 G A rs150112935 SYS1 Synonymous SNV K89K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.824 143677 chr19 40095985 40095985 A G rs74400185 LGALS13 Nonsynonymous SNV K87R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.767 143678 chr20 44050055 44050055 C A PIGT Synonymous SNV R254R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 143679 chr9 130677116 130677116 C T rs774161879 ST6GALNAC4 Nonsynonymous SNV R6Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 143680 chr19 40421239 40421239 G C rs376927699 FCGBP Nonsynonymous SNV C894W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 143681 chr20 44590732 44590732 G A rs16990964 ZNF335 Synonymous SNV H541H 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 Likely benign 3.748 143682 chr9 35094287 35094287 A C rs61755365 PIGO Nonsynonymous SNV F194C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 143683 chr9 711982 711982 G A rs147714853 KANK1 Nonsynonymous SNV E248K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 143684 chr9 71820145 71820145 G C rs371868876 TJP2 Nonsynonymous SNV G23A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.16 143685 chr9 71992330 71992330 C T rs749977798 FAM189A2 Synonymous SNV T99T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.42 143686 chr20 46264678 46264678 C T NCOA3 Synonymous SNV H516H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.049 143687 chr19 57133077 57133077 G A rs146422242 ZNF71 Nonsynonymous SNV R141Q 0 0 0.003 3 0 0 0.008 1 0 0 0 0 9.557 143688 chr19 57176048 57176048 C T rs201628506 ZNF835 Synonymous SNV K173K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 16.22 143689 chr9 126128321 126128321 C T CRB2 Stop gain Q182X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 36 143690 chr9 126345527 126345527 T A DENND1A Nonsynonymous SNV D231V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 143691 chr11 1481887 1481887 C T BRSK2 Synonymous SNV A715A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.4 143692 chr20 48522392 48522392 G A rs2072985 SPATA2 Nonsynonymous SNV L443F 0.003 0 0 0 4 0 0 0 0 0 0 0 14 143693 chr20 48522530 48522530 G A rs201467660 SPATA2 Nonsynonymous SNV R397C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 143694 chr9 79118000 79118000 T C rs148923569 GCNT1 Synonymous SNV L235L 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign 0.055 143695 chr20 50048789 50048789 G A rs376673351 NFATC2 Nonsynonymous SNV P826L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 143696 chr9 4679838 4679838 G A rs200494761 CDC37L1 Nonsynonymous SNV S24N 0.003 0 0 0 4 0 0 0 0 0 0 0 17.29 143697 chr20 52198746 52198746 G C rs368882252 ZNF217 Nonsynonymous SNV A207G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.346 143698 chr19 58118565 58118565 C T rs963964427 ZNF530 Nonsynonymous SNV R558C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.59 143699 chr19 58290196 58290196 G T rs769009678 ZNF586 Nonsynonymous SNV E38D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.28 143700 chr19 58849660 58849660 G A rs150229839 ZSCAN22 Nonsynonymous SNV S143N 0.001 0.003 0.01 4 1 1 0.01 3 0 0 0 0 11.95 143701 chr19 58863673 58863673 C T rs144826779 A1BG Nonsynonymous SNV A197T 0 0 0.007 3 0 0 0.008 2 0 0 0 0 9.714 143702 chr11 18735681 18735681 C T rs544150464 IGSF22 Nonsynonymous SNV D605N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 143703 chr20 57766566 57766566 G C rs769998569 ZNF831 Synonymous SNV R164R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 143704 chr22 35730426 35730426 C T rs146200939 TOM1 Nonsynonymous SNV A333V 0.007 0.01 0.01 1 8 4 0.003 3 1 0 0 0 26 143705 chr9 136918555 136918555 G T rs13297632 BRD3 Synonymous SNV T15T 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 0.8 143706 chr22 36157466 36157466 A G rs758716761 RBFOX2 Synonymous SNV Y218Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.052 143707 chr19 39191733 39191733 C T rs140381330 ACTN4 Synonymous SNV G123G 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 Benign 18.02 143708 chr9 990856 990856 G A rs142983095 DMRT3 Nonsynonymous SNV V424I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 23.7 143709 chr22 37882197 37882197 G C rs149231158 MFNG Nonsynonymous SNV R7G 0.002 0 0 0 2 0 0 0 0 0 0 0 25 143710 chr19 45208978 45208978 C T rs375711025 CEACAM16 Synonymous SNV P260P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.98 143711 chr9 139324740 139324740 C G rs10870182 INPP5E Synonymous SNV P596P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.26 143712 chr9 139342350 139342350 A G SEC16A Synonymous SNV D2134D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.95 143713 chr22 38122442 38122442 C A rs781595281 TRIOBP Stop gain C1293X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 143714 chr9 94487187 94487187 C T rs35852786 ROR2 Nonsynonymous SNV R530Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 20.2 143715 chr9 139890105 139890105 C G rs141765089 CLIC3 Synonymous SNV T46T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 8.19 143716 chr8 37729133 37729133 C T rs367640796 RAB11FIP1 Nonsynonymous SNV D1063N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 143717 chr19 42461193 42461193 C T RABAC1 Nonsynonymous SNV G149D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 31 143718 chr20 3026741 3026741 C T rs750278186 MRPS26 Synonymous SNV G9G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.63 143719 chr8 38111136 38111136 A G rs914238499 DDHD2 Nonsynonymous SNV M622V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.5 143720 chr20 62494132 62494132 G A rs776109715 ABHD16B Synonymous SNV E413E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 143721 chr8 38869209 38869209 G C rs906588804 ADAM9 Nonsynonymous SNV E76D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.21 143722 chr20 62701150 62701150 C T rs752787765 TCEA2 Nonsynonymous SNV R165C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 143723 chr20 62737342 62737342 G A rs754635467 NPBWR2 Synonymous SNV V281V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.611 143724 chr11 32953903 32953903 A G rs529763973 QSER1 Nonsynonymous SNV I367V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.001 143725 chr19 44065167 44065167 C T rs2307174 XRCC1 Synonymous SNV E50E 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 Benign 17.03 143726 chr19 44103155 44103155 A G rs751635082 ZNF576 Synonymous SNV L86L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.096 143727 chr11 33308666 33308666 C T rs765907964 HIPK3 Nonsynonymous SNV R236C 0 0.005 0 0 0 2 0 0 0 0 0 0 33 143728 chrX 101910191 101910191 G A GPRASP1 Synonymous SNV G450G 0.003 0 0 0 3 0 0 0 1 0 0 0 0.078 143729 chr9 14859279 14859279 G A rs201834847 FREM1 Nonsynonymous SNV A178V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.996 143730 chr11 36614978 36614978 C T rs34092949 RAG2 Synonymous SNV V247V 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 1.332 143731 chrX 154132788 154132788 C T rs782581871 F8 Synonymous SNV V1866V 0 0.01 0 0 0 4 0 0 0 2 0 0 9.649 143732 chr19 44681130 44681130 C T rs116372639 ZNF226 Nonsynonymous SNV S572L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.8 143733 chr9 26842356 26842356 C T CAAP1 Nonsynonymous SNV M198I 0.004 0 0 0 5 0 0 0 0 0 0 0 27.4 143734 chr8 69017544 69017544 C T rs199951468 PREX2 Nonsynonymous SNV P963S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.059 143735 chr11 45671241 45671241 C G rs7115779 CHST1 Synonymous SNV S411S 0.003 0.016 0.01 0 3 6 0 3 0 0 0 0 11.61 143736 chr11 45891317 45891317 C G rs767827834 CRY2 Synonymous SNV A320A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.42 143737 chr11 45891639 45891639 C T rs777306074 CRY2 Synonymous SNV S349S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.87 143738 chr8 71068635 71068635 C T rs373859911 NCOA2 Synonymous SNV S501S 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 12.56 143739 chr8 71646337 71646337 T A rs747177686 XKR9 Nonsynonymous SNV V267D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28 143740 chr11 46407088 46407088 G C rs550587425 CHRM4 Synonymous SNV S340S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.02 143741 chr19 45322000 45322000 C T BCAM Synonymous SNV D399D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.661 143742 chr11 46690412 46690412 C T rs747689126 ATG13 Synonymous SNV S317S 0 0.008 0 0 0 3 0 0 0 0 0 0 17.31 143743 chr11 46725939 46725939 A G rs147850078 ZNF408 Nonsynonymous SNV E222G 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Likely benign 14.77 143744 chr21 34925355 34925355 A G rs770797378 SON Nonsynonymous SNV H1273R 0.001 0 0 0 1 0 0 0 0 0 0 0 16 143745 chr9 140357247 140357247 C T rs779042139 PNPLA7 Nonsynonymous SNV A1103T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 143746 chr9 34662048 34662048 T C rs11575594 CCL27 Nonsynonymous SNV I78V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.14 143747 chr9 35043890 35043890 A G rs35126666 C9orf131 Nonsynonymous SNV N387D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 143748 chr9 35658633 35658633 A G rs201276307 CCDC107 Nonsynonymous SNV D56G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 143749 chr9 14841575 14841575 T C FREM1 Nonsynonymous SNV H584R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.276 143750 chr19 47127439 47127439 A G rs200213497 PTGIR Nonsynonymous SNV V15A 0.005 0.008 0 1 6 3 0.003 0 1 0 0 0 8.751 143751 chr9 35906586 35906586 - CCA HRCT1 H105_P106insH 0.001 0 0 0 1 0 0 0 0 0 0 0 143752 chrX 154743653 154743653 A T TMLHE Stop gain L211X 0.002 0 0 0 2 0 0 0 1 0 0 0 39 143753 chr8 98788279 98788279 C T LAPTM4B Synonymous SNV S14S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 143754 chr8 99961665 99961665 G C OSR2 Nonsynonymous SNV G162A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 143755 chrX 30268970 30268970 A G rs375643982 MAGEB1 Synonymous SNV L120L 0.002 0 0 0 2 0 0 0 1 0 0 0 0.042 143756 chrX 30872468 30872468 A G rs141854102 TAB3 Synonymous SNV S438S 0.003 0 0.003 1 3 0 0.003 1 1 0 0 0 0.888 143757 chr19 52003236 52003236 T C SIGLEC12 Nonsynonymous SNV Q131R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 143758 chr19 48908062 48908062 G C GRIN2D Synonymous SNV L179L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 3.39 143759 chr9 104161453 104161454 CC - rs777897434 ZNF189 P7Afs*19 0.003 0.003 0 0 3 1 0 0 0 0 0 0 143760 chrX 99661601 99661601 A G PCDH19 Synonymous SNV A665A 0 0.005 0 0 0 2 0 0 0 1 0 0 0.028 143761 chr21 43846833 43846833 C A UBASH3A Nonsynonymous SNV D320E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.366 143762 chr9 33469590 33469590 G A rs150122122 NOL6 Nonsynonymous SNV H212Y 0.005 0.005 0 0 6 2 0 0 0 0 0 0 3.61 143763 chrX 62898360 62898360 C T rs140777637 ARHGEF9 Synonymous SNV Q165Q 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 9.465 143764 chr20 33567299 33567299 G T rs41309316 MYH7B Nonsynonymous SNV K108N 0.003 0.005 0.007 4 4 2 0.01 2 0 0 0 0 22.4 143765 chr9 111624861 111624861 G A rs141628854 ACTL7A Nonsynonymous SNV G87S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 143766 chr10 102286277 102286277 C T rs200080913 NDUFB8 Nonsynonymous SNV R116H 0.003 0 0 0 4 0 0 0 0 0 0 0 32 143767 chr20 36760757 36760757 T C rs139110852 TGM2 Synonymous SNV P506P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.523 143768 chrX 72674338 72674338 C G CDX4 Nonsynonymous SNV L258V 0.003 0 0 0 3 0 0 0 1 0 0 0 6.026 143769 chr11 5172895 5172895 C T rs749490486 OR52A1 Synonymous SNV E235E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.867 143770 chr9 90501804 90501804 C T rs139866492 SPATA31E1 Nonsynonymous SNV T801I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.095 143771 chr20 39832427 39832427 T C rs142704757 ZHX3 Nonsynonymous SNV N377S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 143772 chr19 54314056 54314056 G A rs201940393 NLRP12 Nonsynonymous SNV P286L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 143773 chrX 99945609 99945609 A C SYTL4 Nonsynonymous SNV L223R 0.011 0 0 5 13 0 0.013 0 4 0 0 2 22.9 143774 chr20 43530403 43530403 A C rs142757633 YWHAB Nonsynonymous SNV K77Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.12 143775 chr19 50885290 50885290 C T rs199733064 NR1H2 Synonymous SNV D268D 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 15.64 143776 chr19 50939393 50939393 G A rs187765595 MYBPC2 Synonymous SNV K107K 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 6.375 143777 chr19 50978724 50978724 G A rs185418641 FAM71E1 Nonsynonymous SNV L133F 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 9.845 143778 chr19 51009742 51009742 C T rs11548260 JOSD2 Synonymous SNV P78P 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 7.27 143779 chr19 51017064 51017064 G C rs7248272 ASPDH Nonsynonymous SNV P6R 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 13.5 143780 chr10 101960432 101960432 A G rs573466829 CHUK Nonsynonymous SNV S559P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.7 143781 chr10 1126002 1126002 C T rs151072982 WDR37 Nonsynonymous SNV A96V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.7 143782 chr20 44430075 44430075 G A rs145739306 DNTTIP1 Nonsynonymous SNV R159Q 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 24.2 143783 chr19 51296970 51296970 G A ACP4 Stop gain W225X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 143784 chr10 102247482 102247482 C G rs536416920 SEC31B Nonsynonymous SNV G1144A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.85 143785 chr9 99795238 99795238 T C rs146846413 CTSV Nonsynonymous SNV N333S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 143786 chr19 51483524 51483524 G A rs147827338 KLK7 Synonymous SNV S75S 0.01 0.01 0.003 6 12 4 0.015 1 0 0 0 0 Benign 13.41 143787 chr9 123476169 123476169 C A MEGF9 Synonymous SNV P156P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.32 143788 chrX 133527969 133527969 A G PHF6 Synonymous SNV A135A 0.006 0 0 1 7 0 0.003 0 2 0 0 0 8.493 143789 chr10 112543134 112543134 T C rs61735272 RBM20 Nonsynonymous SNV L429P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 143790 chr10 114194055 114194055 T C rs140232440 ZDHHC6 Synonymous SNV T297T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.17 143791 chr19 56614214 56614214 C T rs150201146 ZNF787 Nonsynonymous SNV V125I 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 0.494 143792 chr9 990638 990638 C T rs147930723 DMRT3 Nonsynonymous SNV P351L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.5 143793 chr9 99296343 99296343 T C CDC14B Nonsynonymous SNV K234R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.9 143794 chr20 60897149 60897149 C T rs367932546 LAMA5 Nonsynonymous SNV R2141H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 143795 chr22 24219233 24219233 G A rs147844312 SLC2A11 Synonymous SNV V137V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.28 143796 chr10 116417728 116417728 C T rs149208687 ABLIM1 Nonsynonymous SNV V78I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.139 143797 chrX 109697532 109697532 A G rs145070165 RTL9 Synonymous SNV L1229L 0.001 0 0 2 1 0 0.005 0 0 0 0 1 0.017 143798 chr22 25153973 25153973 T A rs142994368 PIWIL3 Nonsynonymous SNV H86L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.413 143799 chr22 25158443 25158443 G A rs146650614 PIWIL3 Synonymous SNV R8R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.16 143800 chr20 61448950 61448950 C T rs373605761 COL9A3 Nonsynonymous SNV P37L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.87 143801 chrX 18944632 18944632 C T rs146631734 PHKA2 Synonymous SNV A466A 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 15.69 143802 chr20 61981129 61981129 G A rs121912282 CHRNA4 Nonsynonymous SNV T545M 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.426 143803 chr19 58772825 58772825 C T rs143925914 ZNF544 Synonymous SNV L257L 0 0 0.01 3 0 0 0.008 3 0 0 0 0 7.566 143804 chr10 101294851 101294851 G T rs184601313 NKX2-3 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 143805 chr19 54818721 54818721 G A rs140176890 LILRA5 Nonsynonymous SNV P281S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.043 143806 chr22 30766757 30766757 A G rs138237270 CCDC157 Nonsynonymous SNV K288R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.2 143807 chr10 123310838 123310838 T C FGFR2 Nonsynonymous SNV E82G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 143808 chr19 59093603 59093603 - AAA CENPBD1P1 0 0 0.007 0 0 0 0 2 0 0 1 0 143809 chr20 62593688 62593688 G C rs766116836 ZNF512B Nonsynonymous SNV Q735E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.06 143810 chrX 135496457 135496457 G A rs143369904 ADGRG4 Nonsynonymous SNV G3059D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 143811 chr10 124351880 124351880 G A rs762144153 DMBT1 Nonsynonymous SNV V747M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 143812 chrX 139865961 139865961 A G rs200866908 CDR1 Nonsynonymous SNV W191R 0.003 0 0 0 3 0 0 0 1 0 0 0 2.455 143813 chr21 17177447 17177447 G A rs145132387 USP25 Nonsynonymous SNV R217Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 143814 chrX 32466625 32466625 G A rs1800269 DMD Nonsynonymous SNV T1237I 0.009 0 0.007 0 10 0 0 2 2 0 1 0 Benign 13.63 143815 chrX 36254193 36254193 C T rs782629885 CFAP47 Nonsynonymous SNV T2386M 0.005 0 0 0 6 0 0 0 2 0 0 0 5.022 143816 chr10 104119977 104119977 G A GBF1 Nonsynonymous SNV R406H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 143817 chr10 104156690 104156690 C T rs762145275 NFKB2 Synonymous SNV I91I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 143818 chr10 104160728 104160728 A T rs200139098 NFKB2 Nonsynonymous SNV T665S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.7 143819 chr22 32554994 32554994 G A rs79988797 C22orf42 Nonsynonymous SNV P70L 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 22.7 143820 chr10 105344627 105344627 C T rs143892486 NEURL1 Synonymous SNV T328T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.514 143821 chr10 105361823 105361823 T C rs148790099 SH3PXD2A Nonsynonymous SNV N932S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.082 143822 chr19 760022 760022 A G MISP Nonsynonymous SNV R632G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 143823 chr10 105362721 105362721 C T rs200758401 SH3PXD2A Nonsynonymous SNV A633T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 143824 chrX 152036154 152036154 C T rs377658352 NSDHL Synonymous SNV N242N 0.001 0.005 0 0 1 2 0 0 0 1 0 0 12.86 143825 chr11 57464259 57464259 C T rs142617104 ZDHHC5 Nonsynonymous SNV P346S 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 30 143826 chr11 57563134 57563134 A G CTNND1 Nonsynonymous SNV E17G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.5 143827 chrX 152806824 152806824 G A rs144855129 ATP2B3 Synonymous SNV A72A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.354 143828 chr19 8140047 8140047 C T rs200311384 FBN3 Nonsynonymous SNV R2537H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 143829 chrX 152845645 152845645 C T rs138503799 ATP2B3 Synonymous SNV N1184N 0.001 0.005 0 0 1 2 0 0 0 1 0 0 13.55 143830 chr10 1058587 1058587 G A rs61731090 GTPBP4 Synonymous SNV P509P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 12.54 143831 chr22 37322146 37322146 T C rs778258053 CSF2RB Synonymous SNV T106T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 143832 chrX 153219782 153219782 G A rs185998087 HCFC1 Synonymous SNV P1356P 0.003 0.005 0.003 1 3 2 0.003 1 0 1 0 0 Benign/Likely benign 2.236 143833 chr19 846331 846331 A T rs139778046 PRTN3 Nonsynonymous SNV H185L 0 0 0.01 0 0 0 0 3 0 0 0 0 0.369 143834 chr10 18292034 18292034 C T rs145228988 SLC39A12-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.79 143835 chr22 38336774 38336774 G A rs777366244 MICALL1 Synonymous SNV K843K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 143836 chr22 38541604 38541604 G A rs142715413 PLA2G6 Nonsynonymous SNV S89F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.24 143837 chrX 19560054 19560054 C T rs762617815 SH3KBP1 Synonymous SNV K346K 0.006 0.003 0 2 7 1 0.005 0 2 0 0 0 15.25 143838 chr10 115608788 115608788 A G rs765150086 DCLRE1A Synonymous SNV N692N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.014 143839 chr11 59992492 59992492 A G rs184022290 MS4A4E Synonymous SNV Y60Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 2.708 143840 chr10 28970957 28970957 C A rs150823349 BAMBI Nonsynonymous SNV T137N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 143841 chr21 43716430 43716430 C T rs200531217 ABCG1 Synonymous SNV L655L 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 8.272 143842 chr21 44171285 44171285 G A rs113340993 PDE9A Nonsynonymous SNV R21H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 143843 chr22 43820993 43820993 T C rs751360236 MPPED1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 143844 chr21 44492219 44492219 C T rs778653743 CBS, CBSL Nonsynonymous SNV E29K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.817 143845 chr9 17793463 17793463 G T rs150543523 SH3GL2 Nonsynonymous SNV G276V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.6 143846 chr11 61725631 61725631 C T rs28940570 BEST1 Nonsynonymous SNV A137V 0 0.008 0 0 0 3 0 0 0 0 0 0 Pathogenic 33 143847 chr10 35858030 35858030 G A rs78190560 CCNY Nonsynonymous SNV A187T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.128 143848 chr22 45258168 45258168 G A rs148939053 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV S332N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 143849 chr10 35929350 35929350 C T rs73270587 FZD8 Synonymous SNV E336E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.728 143850 chr22 45258211 45258211 C T rs199552344 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV F346F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 143851 chr22 45258293 45258293 A C ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV I374L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 143852 chr21 46117743 46117743 G T rs782380109 KRTAP10-12 Synonymous SNV V209V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.097 143853 chr21 46363728 46363728 - G FAM207A Frameshift insertion S88Efs*26 0 0 0 1 0 0 0.003 0 0 0 0 0 143854 chr1 100133237 100133237 A C rs201717174 PALMD Nonsynonymous SNV S56R 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 22.7 143855 chr21 46925070 46925070 G A rs762825455 COL18A1 Nonsynonymous SNV R1141Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 143856 chr22 46932731 46932731 C T rs763766273 CELSR1 Nonsynonymous SNV G113S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.674 143857 chr21 47421189 47421191 CCT - rs1085307560 COL6A1 L617del 0 0 0 1 0 0 0.003 0 0 0 0 0 143858 chrX 77150892 77150892 G A rs140854076 MAGT1 Nonsynonymous SNV R6W 0.012 0.005 0.01 4 14 2 0.01 3 4 0 1 1 Conflicting interpretations of pathogenicity 15.23 143859 chr9 32408612 32408612 G A rs41304757 ACO1 Nonsynonymous SNV V123I 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 22.7 143860 chr9 34978079 34978079 G A rs758968805 PHF24 Nonsynonymous SNV A392T 0.004 0 0 0 5 0 0 0 0 0 0 0 19.85 143861 chr22 50696713 50696713 G A rs750170817 MAPK12 Synonymous SNV D91D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.192 143862 chr1 110293943 110293943 C T rs76425431 EPS8L3 Nonsynonymous SNV E469K 0.003 0 0.007 0 4 0 0 2 0 0 0 0 23.6 143863 chr1 111061136 111061136 T C rs150009335 KCNA10 Nonsynonymous SNV I92V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.022 143864 chr1 111146124 111146124 G A rs769892809 KCNA2 Synonymous SNV A427A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.211 143865 chr10 15151739 15151739 G T NMT2 Nonsynonymous SNV L480M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 143866 chr9 6434112 6434112 A G rs77045370 UHRF2 Nonsynonymous SNV T195A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.9 143867 chr22 20102364 20102364 G A rs61737474 TRMT2A Synonymous SNV T347T 0.002 0.005 0.01 3 2 2 0.008 3 0 0 0 0 2.698 143868 chr11 64854494 64854494 G C rs201856069 ZFPL1 Synonymous SNV R192R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.719 143869 chr1 113265646 113265646 C A rs139629966 TAFA3 Nonsynonymous SNV Q42K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.423 143870 chr10 6002400 6002400 G C rs150004304 IL15RA Synonymous SNV S102S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.611 143871 chr10 21185931 21185931 A G rs140734883 NEBL Synonymous SNV L37L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 7.893 143872 chrX 19410223 19410223 G A rs61744617 MAP3K15 Synonymous SNV G776G 0.002 0 0 0 2 0 0 0 1 0 0 0 12.14 143873 chrX 23731321 23731321 T C rs148179443 ACOT9 Nonsynonymous SNV H129R 0.002 0 0 0 2 0 0 0 1 0 0 0 0.375 143874 chr11 65632037 65632037 C A rs747674843 MUS81 Nonsynonymous SNV L378I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 143875 chrX 47918879 47918879 G A rs61744784 ZNF630 Nonsynonymous SNV P318S 0.002 0 0 0 2 0 0 0 1 0 0 0 13.73 143876 chr10 129904288 129904288 C T rs369190529 MKI67 Nonsynonymous SNV R1579K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.7 143877 chr20 18125878 18125878 T A KAT14 Nonsynonymous SNV S87R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.62 143878 chr9 8486299 8486299 G A rs142009246 PTPRD Nonsynonymous SNV L840F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28 143879 chr10 134628100 134628100 G A rs376372983 CFAP46 Synonymous SNV Y2422Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.723 143880 chr1 1269613 1269615 CTC - rs531899606 TAS1R3 S777del 0 0 0.007 0 0 0 0 2 0 0 0 0 143881 chr11 67433850 67433850 C T rs150984051 ALDH3B2 Synonymous SNV P58P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.293 143882 chr1 1389795 1389795 A T rs1610766 ATAD3C Nonsynonymous SNV Y98F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.037 143883 chr1 9324683 9324683 G A rs142131644 H6PD Nonsynonymous SNV D722N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 143884 chr9 94172919 94172919 G A rs780645794 NFIL3 Nonsynonymous SNV T33M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 143885 chr9 95277023 95277023 C T rs560017678 ECM2 Nonsynonymous SNV R293H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.26 143886 chr9 95482912 95482912 C T BICD2 Synonymous SNV L244L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 143887 chr10 70218985 70218985 A T DNA2 Nonsynonymous SNV L199I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 143888 chr1 150443763 150443763 G A rs375366241 RPRD2 Nonsynonymous SNV R754Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 143889 chr11 70171037 70171037 C T rs111283320 PPFIA1 Nonsynonymous SNV P151S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 143890 chr1 151105673 151105673 C T SEMA6C Nonsynonymous SNV E686K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 143891 chrX 114541251 114541251 - CACTCAGAGAGATCTCGTGGC rs782672111 LUZP4 T201_E202insQRDLVAT 0.006 0 0.02 0 7 0 0 6 2 0 2 0 143892 chr1 14925678 14925678 C T KAZN Nonsynonymous SNV S62L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 143893 chrX 105451010 105451010 A G PWWP3B Nonsynonymous SNV T529A 0.003 0 0 0 4 0 0 0 1 0 0 0 0.08 143894 chr20 33584960 33584960 A T rs201622278 MYH7B Nonsynonymous SNV K1156M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.6 143895 chrX 110963385 110963385 C A rs367783946 ALG13 Nonsynonymous SNV T438K 0.003 0 0 0 4 0 0 0 1 0 0 0 Likely benign 18.22 143896 chrX 112065661 112065661 C T rs752825045 AMOT Nonsynonymous SNV G232S 0.003 0 0 0 4 0 0 0 1 0 0 0 17.04 143897 chr1 151992774 151992774 C T rs76173644 NBPF18P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.772 143898 chr1 152082911 152082911 T C TCHH Nonsynonymous SNV R928G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.896 143899 chr10 21805454 21805454 G A rs192157988 SKIDA1 Nonsynonymous SNV A433V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 18.32 143900 chrX 135308084 135308084 C T rs191075892 MAP7D3 Nonsynonymous SNV R673Q 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 25.8 143901 chr10 49447720 49447720 G A rs55802136 FRMPD2 Nonsynonymous SNV T215M 0.005 0.003 0.007 5 6 1 0.013 2 0 0 0 0 13.58 143902 chr1 16069525 16069525 C T rs41268336 TMEM82 Nonsynonymous SNV R58W 0.007 0.008 0.007 4 8 3 0.01 2 0 1 0 0 18.05 143903 chr1 16091591 16091591 G A rs146575757 FBLIM1 Nonsynonymous SNV R38Q 0.006 0.01 0.003 4 7 4 0.01 1 0 1 0 0 10.56 143904 chr1 16091700 16091700 G A rs61733331 FBLIM1 Synonymous SNV P74P 0.006 0.01 0.003 4 7 4 0.01 1 0 1 0 0 Benign 8.595 143905 chr1 152975555 152975555 A G rs139399212 SPRR3 Nonsynonymous SNV Q20R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 143906 chr20 43135562 43135562 T C rs760227907 SERINC3 Nonsynonymous SNV K230R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.97 143907 chr20 43538811 43538811 G C rs777782039 PABPC1L Synonymous SNV P9P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.27 143908 chrX 150349711 150349711 C A rs182874490 GPR50 Nonsynonymous SNV H552Q 0.002 0 0 0 2 0 0 0 1 0 0 0 17.13 143909 chrX 123514983 123514983 T C TENM1 Synonymous SNV K2527K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.442 143910 chr22 32914231 32914231 C T rs5998526 SYN3 Nonsynonymous SNV S469N 0.002 0.003 0.014 7 2 1 0.018 4 0 0 0 0 22.6 143911 chr22 32914233 32914233 C T rs5998527 SYN3 Synonymous SNV L468L 0.006 0.008 0.02 10 7 3 0.026 6 0 0 0 0 14.6 143912 chr1 154171909 154171910 TC - rs202075988 C1orf189 R100Ifs*17 0.001 0 0.007 0 1 0 0 2 0 0 0 0 143913 chr10 93851687 93851687 T A rs369153928 CPEB3 Synonymous SNV P515P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.44 143914 chr1 155160214 155160215 CG - MUC1 T118Nfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 143915 chr22 37540138 37540138 A G IL2RB Synonymous SNV S25S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.657 143916 chr1 155753613 155753613 C T rs749443987 SCARNA26B 0 0 0.003 0 0 0 0 1 0 0 0 0 3.292 143917 chr10 79782047 79782047 C T rs12764690 POLR3A Synonymous SNV P247P 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign/Likely benign 12.61 143918 chr1 156265326 156265326 C T rs770932031 GLMP Synonymous SNV K37K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 143919 chr1 156268577 156268577 A C rs754833785 VHLL Nonsynonymous SNV L135R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 143920 chr22 38476970 38476970 T A SLC16A8 Nonsynonymous SNV M359L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 143921 chr11 824410 824410 G A rs150770244 PNPLA2 Synonymous SNV R383R 0.007 0.016 0 2 8 6 0.005 0 0 0 0 0 Benign 10.65 143922 chr10 97583015 97583015 G A rs763581010 ENTPD1 Nonsynonymous SNV C20Y 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 143923 chr10 69905283 69905283 G A rs147596628 MYPN Nonsynonymous SNV R377Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 143924 chr22 39482486 39482486 G A rs542681958 APOBEC3G Nonsynonymous SNV R246H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.59 143925 chr1 22173967 22173967 G A rs142458572 HSPG2 Nonsynonymous SNV R2683W 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign/Likely benign 34 143926 chr10 98773571 98773571 C T rs1014343128 SLIT1 Nonsynonymous SNV V1044M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 143927 chrX 152771356 152771356 C T rs781960216 BGN Synonymous SNV I129I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.6 143928 chrX 153175645 153175645 C T rs141995493 ARHGAP4 Synonymous SNV P712P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.22 143929 chr10 70968613 70968613 C A rs200900544 SUPV3L1 Nonsynonymous SNV A399E 0.008 0.003 0 4 9 1 0.01 0 0 0 0 0 0.016 143930 chr10 71020932 71020932 A G rs148886636 HKDC1 Nonsynonymous SNV I752V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.8 143931 chr11 86382840 86382840 G A rs368069705 ME3 Synonymous SNV R49R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 143932 chrX 153540977 153540977 A G rs17174296 TKTL1 Synonymous SNV E183E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.785 143933 chrX 153583007 153583007 C T rs57108893 FLNA Nonsynonymous SNV A1756T 0.002 0.005 0 0 2 2 0 0 0 1 0 0 Benign 1.003 143934 chrX 153589848 153589848 G A rs17091204 FLNA Nonsynonymous SNV S1012L 0.002 0.005 0 0 2 2 0 0 0 1 0 0 Benign/Likely benign 20.5 143935 chr20 57282242 57282242 G A rs980333749 NPEPL1 Nonsynonymous SNV A296T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 143936 chrX 153631126 153631126 C T rs17849495 DNASE1L1 Synonymous SNV A277A 0.002 0.005 0 0 2 2 0 0 0 1 0 0 11.5 143937 chr20 57428834 57428834 A G GNAS Nonsynonymous SNV R172G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 143938 chrX 153695068 153695068 C T rs34401913 PLXNA3 Synonymous SNV P1013P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.223 143939 chrX 154059109 154059109 A G rs12009271 SMIM9 Nonsynonymous SNV I8T 0.003 0 0 3 4 0 0.008 0 1 0 0 1 0.001 143940 chrX 154189379 154189379 C T rs35383156 F8 Nonsynonymous SNV R503H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26 143941 chr10 11505358 11505358 G C rs140625528 USP6NL Synonymous SNV A540A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.688 143942 chr10 96162727 96162727 C G rs776598776 TBC1D12 Synonymous SNV G119G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.913 143943 chrX 24197670 24197670 - GTTGGACAT rs763156570 ZFX V153_E154insGHV 0.003 0 0 0 4 0 0 0 1 0 0 0 143944 chr1 159898627 159898627 C T rs760663053 IGSF9 Nonsynonymous SNV G851R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 143945 chr10 97784669 97784669 G A rs530045200 CC2D2B 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 143946 chr10 5957478 5957478 C G rs562045050 FBH1 Synonymous SNV P429P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 143947 chr12 101713345 101713345 G A rs376164687 UTP20 Nonsynonymous SNV V921I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 143948 chr22 50216763 50216763 G A rs143624797 BRD1 Synonymous SNV Y401Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.997 143949 chr10 64573941 64573941 T G rs202183386 EGR2 Nonsynonymous SNV T153P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.02 143950 chr20 62178739 62178739 C T rs143393962 SRMS Synonymous SNV P26P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 11.02 143951 chr22 50298118 50298118 C T rs62233155 ALG12 Synonymous SNV A343A 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 Benign 13.05 143952 chr1 165738021 165738021 A G TMCO1 Nonsynonymous SNV W41R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 143953 chr10 89272893 89272893 T C MINPP1 Nonsynonymous SNV V82A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 143954 chrX 50377160 50377160 G C rs200014853 SHROOM4 Nonsynonymous SNV S638C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.495 143955 chr20 62326468 62326468 G A rs142965557 RTEL1 Synonymous SNV T908T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 12.67 143956 chr10 91163466 91163466 T G IFIT1 Synonymous SNV P478P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.056 143957 chr22 50727274 50727274 G A rs112567913 PLXNB2 Synonymous SNV S426S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.335 143958 chr22 50728947 50728947 G A rs546928788 PLXNB2 Nonsynonymous SNV R23C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 143959 chr1 169511493 169511493 C T rs370927080 F5 Synonymous SNV G945G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.034 143960 chr22 50902839 50902839 A G rs139208738 SBF1 Synonymous SNV H557H 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 0.014 143961 chrX 71359543 71359543 C T rs150942517 NHSL2 Synonymous SNV Y715Y 0.006 0 0.003 1 7 0 0.003 1 1 0 0 0 1.047 143962 chr12 109072071 109072071 C T rs765842597 CORO1C Nonsynonymous SNV G152S 0 0.003 0 0 0 1 0 0 0 0 0 0 26 143963 chr12 109612027 109612027 G A rs772184272 ACACB Nonsynonymous SNV S403N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 143964 chr21 30409730 30409730 C T rs189459260 USP16 Synonymous SNV T193T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.68 143965 chrX 8556006 8556006 C G rs140670828 ANOS1 Nonsynonymous SNV K185N 0 0.003 0 2 0 1 0.005 0 0 0 0 1 Benign/Likely benign 28.3 143966 chr12 11061856 11061856 A - rs746483561 TAS2R13 I14Mfs*5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 143967 chrX 9656203 9656203 C A TBL1X Synonymous SNV A117A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.969 143968 chr11 1018069 1018069 G A rs10736904 MUC6 Nonsynonymous SNV P1578S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.036 143969 chrX 9863781 9863781 G A rs146235996 SHROOM2 Synonymous SNV P611P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.539 143970 chr10 74451955 74451955 - GGGGCG rs772959871 MCU G22_A23insGG 0.003 0 0.003 0 3 0 0 1 0 0 0 0 143971 chr10 7811250 7811250 C A KIN Stop gain E243X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 36 143972 chr1 1222333 1222333 G A rs145306516 SCNN1D Nonsynonymous SNV R366Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.488 143973 chrX 50052590 50052590 C T rs200972903 CCNB3 Nonsynonymous SNV T474I 0 0 0 2 0 0 0.005 0 0 0 0 1 0.002 143974 chr11 102401377 102401377 G A rs148198672 MMP7 Nonsynonymous SNV P19S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 143975 chr21 37617608 37617608 C T rs149830805 DOP1B Synonymous SNV T1110T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 4.669 143976 chr21 37660314 37660314 C T rs145488940 DOP1B Nonsynonymous SNV R2055C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 35 143977 chr12 12006381 12006381 C T rs765265003 ETV6 Nonsynonymous SNV L117F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 143978 chr11 113196304 113196304 G A rs181267327 TTC12 Synonymous SNV L102L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 1.842 143979 chr11 102991693 102991693 C T rs374073337 DYNC2H1 Nonsynonymous SNV R430C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 33 143980 chrX 77286939 77286939 C T rs142998552 ATP7A Synonymous SNV H973H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 Benign/Likely benign 13.92 143981 chr10 15326076 15326076 G A rs749392322 FAM171A1 Synonymous SNV D42D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.49 143982 chr11 117152870 117152870 A T RNF214 Synonymous SNV P532P 0.003 0 0 0 4 0 0 0 0 0 0 0 9.906 143983 chr1 190707585 190707585 G A rs763846478 LINC01720 0 0 0.003 0 0 0 0 1 0 0 0 0 3.248 143984 chr1 3712783 3712783 C T rs1023325008 LRRC47 Synonymous SNV A86A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.32 143985 chr1 49224822 49224822 T C rs777325753 BEND5 Synonymous SNV P165P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.149 143986 chr10 22830768 22830768 G A rs561310438 PIP4K2A Nonsynonymous SNV P275L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 143987 chr10 96084285 96084285 T G rs773517330 PLCE1 Synonymous SNV G1919G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.421 143988 chr11 111166977 111166977 C T rs779554072 COLCA1 Nonsynonymous SNV S76N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.849 143989 chr1 53925310 53925312 GAG - rs757031376 DMRTB1 E64del 0 0 0 1 0 0 0.003 0 0 0 0 0 143990 chr21 45139241 45139241 G A PDXK Synonymous SNV R22R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.71 143991 chr10 99153460 99153460 G T RRP12 Nonsynonymous SNV L171M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.8 143992 chr10 99216553 99216553 C T ZDHHC16 Nonsynonymous SNV L277F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29 143993 chr10 29822000 29822000 C T SVIL Synonymous SNV G432G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.494 143994 chr1 11595642 11595642 G A rs200620988 DISP3 Nonsynonymous SNV V1253I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 143995 chr11 114453173 114453173 G C NXPE4 Nonsynonymous SNV L223V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.69 143996 chr1 61872248 61872248 C T rs745634028 NFIA Synonymous SNV S423S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.09 143997 chr1 203037705 203037705 C T rs200137584 PPFIA4 Synonymous SNV F1082F 0.004 0 0.003 0 5 0 0 1 0 0 0 0 18.44 143998 chr10 32582555 32582555 T A EPC1 Nonsynonymous SNV M142L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 143999 chr10 33123776 33123776 G A rs143370393 CCDC7 Nonsynonymous SNV G1101E 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.001 144000 chr1 203472707 203472707 C T rs140640370 OPTC Synonymous SNV D286D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 144001 chr11 110035925 110035925 C T rs148466312 ZC3H12C Synonymous SNV H705H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.122 144002 chr11 117241858 117241858 C T rs201125321 CEP164 Synonymous SNV A276A 0.006 0.016 0 0 7 6 0 0 0 0 0 0 11.97 144003 chr1 64114321 64114321 C A rs202044939 PGM1 Synonymous SNV T444T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.2 144004 chr11 113187005 113187005 T G rs781810431 TTC12 Nonsynonymous SNV L9W 0.002 0 0 0 2 0 0 0 0 0 0 0 25 144005 chr11 113283437 113283437 T C rs71653614 DRD2 Nonsynonymous SNV K298E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.59 144006 chr1 206902080 206902080 G A rs151079567 MAPKAPK2 Nonsynonymous SNV R102H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 144007 chr1 207014395 207014395 C G IL19 Nonsynonymous SNV T137S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.433 144008 chr11 121495911 121495911 G A rs74642146 SORL1 Nonsynonymous SNV V2097I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.3 144009 chr1 209602529 209602529 C T rs571199407 MIR205HG 0 0 0.003 0 0 0 0 1 0 0 0 0 5.875 144010 chr1 16460381 16460381 G A rs376402047 EPHA2 Nonsynonymous SNV P517L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.53 144011 chr1 212587338 212587338 A C PACC1 Nonsynonymous SNV S41A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 144012 chr11 133790388 133790388 G T rs187022741 IGSF9B Synonymous SNV R1078R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.327 144013 chr11 119549425 119549425 C T rs137991779 NECTIN1 Nonsynonymous SNV G44S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 144014 chr12 42512793 42512801 AATACTTAC - rs756570630 GXYLT1 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 144015 chr12 42512805 42512805 G T rs775422274 GXYLT1 Synonymous SNV G130G 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 5.552 144016 chr11 1055276 1055276 G A rs553502918 LINC02688 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 3.012 144017 chr1 22157578 22157578 G A rs200221194 HSPG2 Synonymous SNV G3857G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.24 144018 chr1 22828878 22828878 A G rs534603828 ZBTB40 Nonsynonymous SNV I371V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 144019 chr1 222721162 222721162 G A rs183510189 HHIPL2 Synonymous SNV D75D 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 Benign 1.749 144020 chr12 46242670 46242670 A G rs201579365 ARID2 Synonymous SNV E544E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.355 144021 chr12 46754919 46754919 T C rs149060516 SLC38A2 Nonsynonymous SNV H399R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.181 144022 chr22 29711036 29711036 G A RASL10A Nonsynonymous SNV S67L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 144023 chr12 4771734 4771734 G A rs138434279 NDUFA9 Synonymous SNV P196P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 13.97 144024 chr22 30683439 30683439 G A rs201164151 CASTOR1 Nonsynonymous SNV R99C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 144025 chr10 71018669 71018669 T A HKDC1 Nonsynonymous SNV Y724N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 144026 chr11 1276685 1276685 G C rs984460796 MUC5B Nonsynonymous SNV R5321S 0 0.005 0 0 0 2 0 0 0 0 0 0 1.09 144027 chr11 22242646 22242646 - A rs137854521 ANO5 Frameshift insertion N63Kfs*15 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 144028 chr11 116719878 116719878 G A SIK3 Synonymous SNV A1151A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.99 144029 chr1 228479805 228479805 G A rs748473672 OBSCN Nonsynonymous SNV G3516R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 144030 chr22 32929802 32929802 C T rs772406281 SYN3 Nonsynonymous SNV D358N 0 0.005 0 2 0 2 0.005 0 0 0 0 0 26.4 144031 chr10 74896577 74896577 C T rs144762181 ECD Nonsynonymous SNV G487D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.591 144032 chr1 228552747 228552747 G A rs756706335 OBSCN Nonsynonymous SNV A6303T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.693 144033 chr11 1262088 1262088 C A MUC5B Synonymous SNV A1326A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.68 144034 chr22 37457173 37457173 T C KCTD17 Nonsynonymous SNV F255L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.4 144035 chr1 229667393 229667393 C T ABCB10 Synonymous SNV L475L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 144036 chr11 17741529 17741529 C T rs781111019 MYOD1 Nonsynonymous SNV A67V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 144037 chr11 18253087 18253087 C T rs146072546 SAA2-SAA4, SAA4 Nonsynonymous SNV D119N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.543 144038 chr11 128840019 128840019 G A rs142889526 ARHGAP32 Nonsynonymous SNV R1334C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 144039 chr10 79552206 79552206 G A rs141127758 DLG5 Nonsynonymous SNV P1918S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 144040 chr11 31477930 31477930 A T rs771030122 IMMP1L Synonymous SNV G66G 0.005 0.016 0 5 6 6 0.013 0 0 0 0 0 0.446 144041 chr1 232941096 232941096 T C rs771771262 MAP10 Synonymous SNV D109D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.176 144042 chr10 82033577 82033577 C T rs200663190 MAT1A Nonsynonymous SNV S383N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 144043 chr10 87487734 87487734 G T rs777896486 GRID1 Nonsynonymous SNV L471M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 144044 chr11 1651411 1651415 GGTCC - KRTAP5-5 G114Efs*65 0.001 0 0 0 1 0 0 0 0 0 0 0 144045 chr11 1651417 1651441 AGGGGGGCTGTGGCTCCTGTGGGGG - KRTAP5-5 K116Sfs*127 0.001 0 0 0 1 0 0 0 0 0 0 0 144046 chr1 38218639 38218639 G T rs761405544 EPHA10 Synonymous SNV T422T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.402 144047 chr1 38270012 38270012 C T rs112627355 YRDC Synonymous SNV L243L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 144048 chr1 38289410 38289410 C T rs760390056 MTF1 Synonymous SNV T381T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 144049 chr11 375700 375700 G T rs368542643 B4GALNT4 Synonymous SNV V304V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.07 144050 chr10 91177355 91177355 C T rs762242435 IFIT5 Synonymous SNV Y133Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.06 144051 chr11 418423 418423 G A rs139070762 ANO9 Nonsynonymous SNV P622L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.62 144052 chr10 92617162 92617162 C A HTR7 Synonymous SNV T89T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 144053 chr10 92617173 92617173 A G HTR7 Nonsynonymous SNV S86P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.61 144054 chr10 93390279 93390279 T C rs747368008 PPP1R3C Nonsynonymous SNV N120S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 144055 chr1 24484051 24484051 C T rs772933526 IFNLR1 Nonsynonymous SNV E378K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 144056 chr11 18418516 18418519 GTAA - rs776715682 LDHA 0.001 0 0 0 1 0 0 0 0 0 0 0 144057 chr11 124757355 124757355 T A rs757607846 ROBO4 Synonymous SNV G554G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 144058 chr11 1857161 1857161 C T rs745366196 SYT8 Stop gain Q117X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 144059 chr11 31804981 31804981 G A rs200155061 ELP4 Nonsynonymous SNV R395H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 144060 chr1 44064395 44064395 C T rs147762557 PTPRF Synonymous SNV P606P 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 Likely benign 12.76 144061 chr11 33050206 33050206 T C DEPDC7 Nonsynonymous SNV L217P 0 0.008 0 0 0 3 0 0 0 1 0 0 24.7 144062 chr1 44169691 44169691 G A rs143474834 KDM4A Nonsynonymous SNV V988M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.2 144063 chr1 247921298 247921298 G T rs769478736 OR1C1 Nonsynonymous SNV N137K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.054 144064 chr1 45446707 45446707 C T rs139445917 EIF2B3 Nonsynonymous SNV R45H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 34 144065 chr12 57351190 57351190 C T rs779494506 RDH16 Synonymous SNV R19R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.05 144066 chr11 2424720 2424720 G A TSSC4 Nonsynonymous SNV G286E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.04 144067 chr11 129034271 129034271 T C rs201492949 ARHGAP32 Synonymous SNV L56L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 5.095 144068 chr11 12946507 12946507 G A rs777579325 TEAD1 Nonsynonymous SNV V308I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 144069 chr11 4470782 4470782 C T rs143954018 OR52K2 Synonymous SNV I71I 0.004 0.01 0 0 5 4 0 0 0 0 0 0 13.2 144070 chr11 4471361 4471361 C A rs201301774 OR52K2 Nonsynonymous SNV H264Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 144071 chr1 2524128 2524128 A G rs149776280 MMEL1 Nonsynonymous SNV I678T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 24.6 144072 chr11 17408599 17408599 C T rs771797701 KCNJ11 Nonsynonymous SNV R347H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.4 144073 chr11 47834482 47834482 G A rs149988673 NUP160 Nonsynonymous SNV P635L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 34 144074 chrX 19398315 19398315 C T rs56381411 MAP3K15 Nonsynonymous SNV G838S 0 0.003 0.014 3 0 1 0.008 4 0 0 2 1 28.8 144075 chr11 44069804 44069804 G A rs138904993 ACCSL Nonsynonymous SNV R73H 0.006 0.01 0 0 7 4 0 0 0 0 0 0 0.003 144076 chr1 28834045 28834045 C G rs146544479 SNORA73A 0 0 0.007 0 0 0 0 2 0 0 0 0 6.204 144077 chr1 28835181 28835181 G A rs566089029 SNORA73B 0 0 0.01 0 0 0 0 3 0 0 0 0 14.14 144078 chr1 28835426 28835426 - T rs761763561 SNHG3 0 0 0.01 0 0 0 0 3 0 0 0 0 144079 chr1 28906940 28906940 C T rs41307828 SNHG12, SNORA44 0 0 0.054 0 0 0 0 16 0 0 2 0 12.35 144080 chr12 7585137 7585137 A C rs745309100 CD163L1 Nonsynonymous SNV L224W 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 144081 chr10 55892744 55892744 A G rs893216164 PCDH15 Nonsynonymous SNV I566T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 28.1 144082 chr10 6063467 6063467 C T rs368304698 IL2RA Nonsynonymous SNV G186D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.011 144083 chr12 82752080 82752080 C T rs61737397 CCDC59 Nonsynonymous SNV G26R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 16.04 144084 chr1 34329963 34329963 G A HMGB4 Synonymous SNV K57K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 144085 chr1 34667736 34667736 A T rs139397885 C1orf94 Nonsynonymous SNV N441I 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 26.5 144086 chr1 3527778 3527778 C T rs758432404 MEGF6 Nonsynonymous SNV V19M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 144087 chr1 75188894 75188894 T C CRYZ Nonsynonymous SNV T58A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 144088 chr1 75622629 75622629 C T rs866676237 LHX8 Nonsynonymous SNV H278Y 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 144089 chrX 55650343 55650343 C G rs142979047 FOXR2 Nonsynonymous SNV P67A 0.004 0.005 0 3 5 2 0.008 0 2 0 0 1 0.001 144090 chr10 67862992 67862992 C T rs77165728 CTNNA3 Nonsynonymous SNV E634K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.9 144091 chr10 696201 696201 G A rs756636493 PRR26 Nonsynonymous SNV E51K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.862 144092 chrX 62893924 62893924 G C rs143490560 ARHGEF9 Nonsynonymous SNV D253E 0.002 0.003 0 0 2 1 0 0 1 0 0 0 Benign/Likely benign 16.97 144093 chrX 68060347 68060347 C T rs35202024 EFNB1 Synonymous SNV T297T 0 0.003 0 5 0 1 0.013 0 0 0 0 1 Benign 10.54 144094 chr11 4903978 4903978 G A rs534018343 OR51T1 Synonymous SNV L283L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.972 144095 chr12 9307216 9307216 G A PZP Nonsynonymous SNV T1257I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 144096 chr10 71005860 71005860 T C rs763033929 HKDC1 Nonsynonymous SNV Y301H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 26.9 144097 chrX 71839093 71839093 C T PHKA1 Nonsynonymous SNV D675N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.9 144098 chrX 77130990 77130990 C T rs782428049 MAGT1 Synonymous SNV P69P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 14.93 144099 chr12 94653400 94653400 C T rs376544440 PLXNC1 Synonymous SNV N1047N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.03 144100 chr12 96387609 96387609 G A rs17024973 HAL Synonymous SNV Y164Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 7.639 144101 chr11 112104187 112104187 A G rs104894279 PTS Nonsynonymous SNV D116G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 23.5 144102 chr10 73970502 73970502 C G rs61758723 ASCC1 Nonsynonymous SNV S67T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 17.02 144103 chr1 43688634 43688634 G A rs200006667 CFAP57 Nonsynonymous SNV R891Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 144104 chr13 103396681 103396684 TGTT - rs768504737 CCDC168 T2122Sfs*2 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 144105 chr10 75258710 75258710 C T rs61761604 USP54 Nonsynonymous SNV G1516S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 144106 chr1 95363577 95363577 C T CNN3 Synonymous SNV P191P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.55 144107 chr11 46407709 46407709 G A rs199520874 CHRM4 Synonymous SNV C133C 0.002 0 0 0 2 0 0 0 0 0 0 0 6.788 144108 chr11 46637245 46637245 G T rs138485412 HARBI1 Nonsynonymous SNV D181E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 144109 chrX 134494343 134494343 A G rs782543098 ZNF449 Nonsynonymous SNV E300G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.591 144110 chr11 47259404 47259404 G A rs761752334 DDB2 Nonsynonymous SNV R158H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 144111 chr11 47362777 47362777 A C rs774348756 MYBPC3 Nonsynonymous SNV I603M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.2 144112 chr10 81070780 81070780 A T rs202180044 ZMIZ1 Nonsynonymous SNV S979C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.5 144113 chr11 118514569 118514569 C G PHLDB1 Nonsynonymous SNV R930G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 144114 chr1 180885722 180885722 C T rs375883874 KIAA1614 Synonymous SNV P161P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.81 144115 chr1 48698062 48698062 G A rs61743842 SLC5A9 Synonymous SNV S307S 0.004 0 0.007 0 5 0 0 2 0 0 0 0 11.59 144116 chr13 114514819 114514819 G C rs139821544 TMEM255B Synonymous SNV P260P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 5.499 144117 chr10 858923 858923 C T rs772948662 LARP4B Synonymous SNV S755S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.061 144118 chr11 119182834 119182834 T C rs754618585 MCAM Synonymous SNV E357E 0 0.005 0 2 0 2 0.005 0 0 0 0 0 0.019 144119 chr11 48238468 48238468 C T rs145509417 OR4B1 Nonsynonymous SNV T36M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 144120 chr11 5461847 5461847 C G rs267602954 OR51I1 Nonsynonymous SNV E300Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 144121 chr13 25027745 25027745 T C rs1130943 PARP4 Nonsynonymous SNV M936V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.001 144122 chrX 153043923 153043923 C T rs781782814 PLXNB3 Synonymous SNV S1849S 0 0.003 0 3 0 1 0.008 0 0 0 0 1 14.99 144123 chr11 12316146 12316146 C A rs35331235 MICALCL Nonsynonymous SNV P390T 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.6 144124 chrX 153130794 153130794 C T rs146224667 L1CAM Synonymous SNV S898S 0 0.003 0 3 0 1 0.008 0 0 0 0 1 11.2 144125 chr10 93247491 93247491 A G HECTD2 Nonsynonymous SNV I276V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 144126 chr10 93699717 93699717 A G rs771118743 BTAF1 Nonsynonymous SNV I49M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 144127 chr13 25744212 25744212 C T rs553194528 AMER2 Nonsynonymous SNV G516S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24 144128 chr1 198248166 198248166 A G rs749401109 NEK7 Synonymous SNV S188S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.564 144129 chr1 6214814 6214814 T C rs765098387 CHD5 Synonymous SNV V217V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.035 144130 chr11 5730495 5730495 C T rs748507000 TRIM22 Nonsynonymous SNV H368Y 0.009 0.008 0 3 10 3 0.008 0 0 0 0 0 0.001 144131 chr10 102286732 102286732 C T rs368053910 NDUFB8 Synonymous SNV P104P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.5 144132 chr10 103900681 103900681 G C PPRC1 Nonsynonymous SNV A806P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.817 144133 chr1 63790010 63790010 G A FOXD3 Synonymous SNV A427A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.081 144134 chr11 56468602 56468602 G A rs139444966 OR9G1, OR9G9 Nonsynonymous SNV V247I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.6 144135 chr1 65339171 65339171 T C rs199914339 JAK1 Nonsynonymous SNV N122S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.269 144136 chr1 203054985 203054985 G A rs61733792 MYOG Synonymous SNV Y35Y 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 0.414 144137 chr11 125523667 125523667 A G rs141332865 CHEK1 Synonymous SNV R436R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.051 144138 chr1 203134682 203134682 A G rs75070458 ADORA1 Nonsynonymous SNV N212S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.462 144139 chr11 57244296 57244296 C T rs141304388 RTN4RL2 Nonsynonymous SNV A392V 0.005 0.013 0 1 6 5 0.003 0 0 0 0 0 14.26 144140 chr1 204214029 204214029 C A PLEKHA6 Nonsynonymous SNV G712V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 144141 chr11 59211292 59211292 C T rs147488926 OR5A1 Synonymous SNV L217L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 3.127 144142 chr1 204588134 204588134 G A rs114324888 LRRN2 Synonymous SNV R329R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.694 144143 chr1 151134565 151134565 A T rs139856560 LYSMD1 Synonymous SNV I16I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.078 144144 chr1 151317288 151317288 A G RFX5 Nonsynonymous SNV M90T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 144145 chr11 128807505 128807505 T C TP53AIP1 Nonsynonymous SNV H70R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.709 144146 chr13 50115897 50115897 G A rs368866477 RCBTB1 Synonymous SNV I413I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.73 144147 chr1 209791835 209791835 C T rs143164025 LAMB3 Synonymous SNV A957A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.96 144148 chr10 120797856 120797856 C T EIF3A Nonsynonymous SNV E1208K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 144149 chr1 154924008 154924008 G A rs750007221 PBXIP1 Nonsynonymous SNV T32M 0.002 0 0 0 2 0 0 0 0 0 0 0 2.292 144150 chr11 18306904 18306904 G A HPS5 Synonymous SNV C866C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.608 144151 chr11 18306905 18306905 C G HPS5 Nonsynonymous SNV C866S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 144152 chr13 77745669 77745669 G C rs745564444 MYCBP2 Nonsynonymous SNV R1918G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26.4 144153 chr11 62416162 62416162 G A rs74418227 INTS5 Nonsynonymous SNV P464S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.175 144154 chr1 89658689 89658689 C A rs149907641 GBP4 Nonsynonymous SNV D190Y 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 28 144155 chr10 124391388 124391388 C T rs189862352 DMBT1 Nonsynonymous SNV P1365S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 0.042 144156 chr11 608409 608409 G A rs746405087 PHRF1 Nonsynonymous SNV V985M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.9 144157 chr1 156107470 156107470 G A rs142191737 LMNA Nonsynonymous SNV R433H 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 144158 chr11 1888065 1888065 G A rs267602812 LSP1 Nonsynonymous SNV G121S 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.004 144159 chr1 156142697 156142697 G T rs151260330 SEMA4A Synonymous SNV T273T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.33 144160 chr13 96743545 96743545 A G rs138242464 HS6ST3 Synonymous SNV K143K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.404 144161 chr14 100182170 100182170 G A rs746098686 CYP46A1 Synonymous SNV Q239Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.96 144162 chr11 103080663 103080663 G A rs766069993 DYNC2H1 Nonsynonymous SNV R2838Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.2 144163 chr1 156926340 156926340 C T rs142134087 ARHGEF11 Nonsynonymous SNV A475T 0.003 0 0 0 4 0 0 0 0 0 0 0 34 144164 chr1 94643581 94643581 C T rs147752270 ARHGAP29 Nonsynonymous SNV V811I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.58 144165 chr1 94685903 94685903 C T rs183410431 ARHGAP29 Nonsynonymous SNV R20H 0 0 0.003 0 0 0 0 1 0 0 0 0 22 144166 chr1 95428772 95428772 A T rs72720230 LOC729970 0 0 0.017 0 0 0 0 5 0 0 0 0 9.607 144167 chr11 62361812 62361812 G A rs746213214 MTA2 Nonsynonymous SNV S414L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 144168 chr1 158623132 158623132 C T rs200809766 SPTA1 Synonymous SNV P1040P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.057 144169 chr11 64597139 64597139 C T rs55669367 CDC42BPG Synonymous SNV P1257P 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 9.094 144170 chr11 64609306 64609306 G A rs56338925 CDC42BPG Synonymous SNV I77I 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 13.85 144171 chr1 97547947 97547947 T A rs67376798 DPYD Nonsynonymous SNV D949V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 drug response 29.9 144172 chr20 10622214 10622214 C T rs145895196 JAG1 Nonsynonymous SNV R937Q 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign/Likely benign 23.1 144173 chr14 104641752 104641752 G A rs138557973 KIF26A Nonsynonymous SNV R876Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.56 144174 chr11 6423355 6423355 T C rs765658334 APBB1 Nonsynonymous SNV I227V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.3 144175 chr11 65562543 65562543 T C OVOL1 Nonsynonymous SNV C179R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 144176 chr20 17462677 17462677 G T rs757047936 PCSK2 Nonsynonymous SNV V592L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 144177 chr1 232561495 232561495 C G rs750413617 SIPA1L2 Nonsynonymous SNV E1490D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.3 144178 chr11 116707044 116707044 A T rs138407155 APOA1 Nonsynonymous SNV F95Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 25.6 144179 chr11 36518740 36518740 T G TRAF6 Nonsynonymous SNV N175T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 144180 chr11 404128 404128 C T rs373370326 PKP3 Nonsynonymous SNV R755W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 144181 chr14 21458649 21458649 C G rs145113570 METTL17 Nonsynonymous SNV Q86E 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 8.733 144182 chr11 57373646 57373646 C T rs143760635 SERPING1 Synonymous SNV S283S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.86 144183 chr11 57512869 57512869 G A BTBD18 Synonymous SNV T292T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.452 144184 chr20 2188026 2188026 C G rs1004152503 LOC388780 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.665 144185 chr11 67395679 67395679 G A rs61738767 NUDT8 Nonsynonymous SNV T150M 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 24.2 144186 chr11 119050730 119050730 G A rs530381017 NLRX1 Nonsynonymous SNV R667Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 144187 chr11 58034936 58034936 C G OR10W1 Nonsynonymous SNV C132S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 144188 chr11 119185679 119185679 G C MCAM Stop gain Y88X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 144189 chr11 119213351 119213351 C T rs142846614 MFRP Nonsynonymous SNV D448N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 14.7 144190 chr11 67059496 67059496 C T rs138461637 ANKRD13D Synonymous SNV D192D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 144191 chr10 29824956 29824956 G A rs143011277 SVIL Synonymous SNV S290S 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 14.85 144192 chr11 121323277 121323277 G A rs114331262 SORL1 Synonymous SNV R79R 0.011 0.018 0.014 3 13 7 0.008 4 0 0 0 0 12.17 144193 chr11 6023524 6023524 G A rs368671932 OR56A4 Synonymous SNV A233A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.12 144194 chr14 23994015 23994015 T G rs971715766 ZFHX2 Nonsynonymous SNV E1712D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.77 144195 chr14 24025972 24025972 C G rs770661450 THTPA Synonymous SNV A2A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.34 144196 chr20 31601644 31601644 C T rs142593623 BPIFB2 Nonsynonymous SNV P113S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.3 144197 chr1 182423094 182423094 G T rs12083859 RGSL1 Nonsynonymous SNV E5D 0.005 0 0.003 0 6 0 0 1 1 0 0 0 9.581 144198 chr11 726715 726715 G A rs535823956 EPS8L2 Synonymous SNV V677V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.94 144199 chr14 24795327 24795327 - C ADCY4 Frameshift insertion D538Gfs*9 0.002 0.005 0 0 2 2 0 0 0 0 0 0 144200 chr1 182850399 182850399 C T rs116290610 DHX9 Synonymous SNV Y875Y 0.014 0.016 0.003 3 16 6 0.008 1 0 0 0 0 Benign 10.55 144201 chr11 60285637 60285637 G A rs141622117 MS4A13 Synonymous SNV T27T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.836 144202 chr20 33328283 33328283 A G NCOA6 Nonsynonymous SNV L1926P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 144203 chr20 33447400 33447400 C T GGT7 Nonsynonymous SNV R287H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 144204 chr11 61136155 61136155 A G rs773659373 TMEM138 Nonsynonymous SNV K97E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.3 144205 chr11 61318927 61318927 G C rs148448699 SYT7 Synonymous SNV R48R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.351 144206 chr20 34802311 34802311 G A EPB41L1 Synonymous SNV E559E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 144207 chr20 35441225 35441225 G A rs145513467 SOGA1 Nonsynonymous SNV P780L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.36 144208 chr11 73008489 73008489 G A rs150908498 P2RY6 Nonsynonymous SNV R410H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 144209 chr20 37255681 37255681 G A rs558014643 ARHGAP40 Synonymous SNV S126S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 144210 chr2 7213468 7213468 C T rs186731970 RNF144A Nonsynonymous SNV P308L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.793 144211 chr11 126073477 126073477 C T rs146553416 RPUSD4 Nonsynonymous SNV A293T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 144212 chr1 202777281 202777281 C A KDM5B Nonsynonymous SNV K51N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 144213 chr20 44424038 44424038 G A rs139853820 DNTTIP1 Nonsynonymous SNV A110T 0 0 0.007 0 0 0 0 2 0 0 0 0 4.469 144214 chr1 203014662 203014662 G A PPFIA4 Nonsynonymous SNV S278N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 144215 chr2 11755346 11755346 C T rs558985013 GREB1 Synonymous SNV N1084N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.45 144216 chr2 11761061 11761061 C T GREB1 Nonsynonymous SNV L1359F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 144217 chr10 5683731 5683731 A C rs140498552 ASB13 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 144218 chr11 63993050 63993050 G A TRPT1 Synonymous SNV D26D 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 14.99 144219 chr11 83810058 83810058 C G rs758852622 DLG2 Synonymous SNV G63G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.52 144220 chr1 207013239 207013239 C T rs143520689 IL19 Synonymous SNV Y85Y 0.002 0.01 0.003 0 2 4 0 1 0 1 0 0 10.24 144221 chr11 93836111 93836111 T C rs184702288 HEPHL1 Synonymous SNV P869P 0.003 0 0.017 0 4 0 0 5 0 0 0 0 5.794 144222 chr11 6426000 6426000 G A rs564816532 APBB1 Synonymous SNV A12A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.23 144223 chr11 17393985 17393987 CCT - rs567313382 NCR3LG1 P433del 0 0 0 1 0 0 0.003 0 0 0 0 0 144224 chr10 70406312 70406312 G T TET1 Nonsynonymous SNV A1276S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.135 144225 chr20 57210712 57210712 C T rs58749102 LINC01711 0 0 0.031 0 0 0 0 9 0 0 1 0 2.278 144226 chr2 27861871 27861871 G A rs202218526 GPN1 Synonymous SNV V135V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.28 144227 chr20 60293640 60293640 C T rs149634457 LOC100128310 0 0 0.003 0 0 0 0 1 0 0 0 0 5.857 144228 chr20 60293727 60293727 C T rs149954461 LOC100128310 0 0 0.017 0 0 0 0 5 0 0 0 0 8.194 144229 chr20 60294004 60294004 G A rs139300079 LOC100128310 0 0 0.017 0 0 0 0 5 0 0 0 0 7.175 144230 chr12 104067804 104067804 G A STAB2 Nonsynonymous SNV G831R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 144231 chr14 65289717 65289717 A G rs141340359 SPTB Synonymous SNV N32N 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 7.136 144232 chr14 65289787 65289787 T G rs138437526 SPTB Nonsynonymous SNV N9T 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 22.9 144233 chr2 29222107 29222107 G A rs200101077 TOGARAM2 Nonsynonymous SNV R67H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.915 144234 chr11 94277739 94277739 G A rs746316275 FUT4 Nonsynonymous SNV R147Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.441 144235 chr2 29259409 29259409 C T rs141848946 TOGARAM2 Synonymous SNV V616V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.09 144236 chr11 94554797 94554797 C T rs751441642 AMOTL1 Nonsynonymous SNV P358L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 144237 chr1 221912584 221912584 G A rs61758448 DUSP10 Nonsynonymous SNV P168L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 144238 chr2 31590898 31590898 T C rs146345594 XDH Nonsynonymous SNV Y709C 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 144239 chr12 108618578 108618578 G A rs557114837 WSCD2 Nonsynonymous SNV V249M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 144240 chr14 72961874 72961874 C T rs777304785 RGS6 Nonsynonymous SNV T255M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.2 144241 chr11 22646970 22646970 G A rs45556032 FANCF Synonymous SNV L129L 0.003 0.003 0.01 3 4 1 0.008 3 0 0 0 0 Benign/Likely benign 7.858 144242 chr11 557927 557927 G A rs570678055 LMNTD2 Nonsynonymous SNV S171L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 144243 chr20 61510756 61510756 G C DIDO1 Nonsynonymous SNV D2184E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.079 144244 chr11 66032641 66032641 T C KLC2 Synonymous SNV D346D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.73 144245 chr11 2428386 2428386 G A TRPM5 Synonymous SNV V1027V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.846 144246 chr10 75553651 75553651 G A rs184753630 ZSWIM8 Nonsynonymous SNV R825H 0.002 0 0 0 2 0 0 0 0 0 0 0 25 144247 chr12 109510141 109510141 C T rs769770015 USP30 Nonsynonymous SNV T204I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.5 144248 chr20 62172855 62172855 G A rs776421582 SRMS Synonymous SNV N355N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.349 144249 chr11 67077808 67077808 G C SSH3 Nonsynonymous SNV E561Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24 144250 chr11 67191987 67191987 G A rs759947228 CARNS1 Nonsynonymous SNV R800H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 144251 chr10 89623766 89623766 G A PTEN Synonymous SNV R20R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.456 144252 chr20 9374275 9374275 A G rs142617224 PLCB4 Nonsynonymous SNV K455R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 24 144253 chr2 45169978 45169978 C T rs749956891 SIX3 Synonymous SNV L245L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.484 144254 chr11 6807163 6807163 C T rs2659879 OR2AG1 Nonsynonymous SNV R299W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.6 144255 chr11 33370115 33370115 C A HIPK3 Nonsynonymous SNV S785Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 144256 chr10 92654641 92654641 A C rs951743316 RPP30 Nonsynonymous SNV K181T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 144257 chr11 73103264 73103264 C T RELT Nonsynonymous SNV R126W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.1 144258 chr21 30505718 30505718 G A rs1053489715 MAP3K7CL Nonsynonymous SNV S18N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 144259 chr1 228556090 228556090 C T rs367832645 OBSCN Synonymous SNV S6580S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 144260 chr1 228557755 228557755 G A rs145597580 OBSCN Nonsynonymous SNV A6694T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.6 144261 chr12 113403668 113403668 C T rs544604109 OAS3 Synonymous SNV S841S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.362 144262 chr1 228602459 228602459 G A rs142505325 TRIM17 Synonymous SNV P105P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.17 144263 chr1 229750161 229750161 C G rs145560956 TAF5L Synonymous SNV V23V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 144264 chr1 231403573 231403573 C T rs1016562265 GNPAT Synonymous SNV D340D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.51 144265 chr1 232539219 232539219 C T rs2275303 SIPA1L2 Nonsynonymous SNV G1639S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.83 144266 chr10 97969596 97969596 G A rs147455437 BLNK Synonymous SNV A143A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.03 144267 chr11 5624623 5624623 C T rs140488832 TRIM6, TRIM6-TRIM34 Synonymous SNV S55S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.33 144268 chr12 12022659 12022659 A T rs148116823 ETV6 Synonymous SNV P255P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.59 144269 chr11 76893105 76893105 G A rs782471298 MYO7A Nonsynonymous SNV A1005T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 144270 chr11 46397979 46397979 C T rs776113308 MIR4688 0 0 0 1 0 0 0.003 0 0 0 0 0 7.814 144271 chr21 37618016 37618016 G A DOP1B Synonymous SNV V1246V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.489 144272 chr12 113382295 113382295 G A rs371718880 OAS3 Nonsynonymous SNV G159S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 144273 chr21 39494630 39494630 G A rs2836159 DSCR8 0 0 0.024 0 0 0 0 7 0 0 1 0 10.12 144274 chr11 47369203 47369203 T C rs776075902 MYBPC3 Nonsynonymous SNV S284G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.61 144275 chr11 76833671 76833671 G A rs144226060 CAPN5 Synonymous SNV S551S 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign 15.24 144276 chr12 118457568 118457568 T C rs759964008 RFC5 Synonymous SNV L88L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.507 144277 chr2 73717117 73717117 C A rs754078506 ALMS1 Nonsynonymous SNV D2676E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 22.9 144278 chr1 236918380 236918380 A C ACTN2 Nonsynonymous SNV K679T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 144279 chr14 95030431 95030431 C T rs371042106 SERPINA4 Synonymous SNV D241D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.496 144280 chr1 241912850 241912852 AAC - WDR64 T533del 0.001 0 0 0 1 0 0 0 0 0 0 0 144281 chr1 241912855 241912855 T G WDR64 Nonsynonymous SNV V534G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 144282 chr2 84780123 84780123 T A rs556423348 DNAH6 Nonsynonymous SNV S523T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.103 144283 chr1 243434326 243434326 T C rs148818431 SDCCAG8 Synonymous SNV S89S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.604 144284 chr11 78381482 78381482 G A rs146739182 TENM4 Nonsynonymous SNV R1970C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 144285 chr12 124349236 124349236 G C rs200400425 DNAH10 Nonsynonymous SNV E2217Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 26.6 144286 chr12 124397758 124397758 C T rs747605872 DNAH10 Synonymous SNV A3298A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 144287 chr12 121756084 121756084 G A rs13141 ANAPC5 Nonsynonymous SNV A518V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 144288 chr2 95941784 95941784 G A rs374202321 PROM2 Nonsynonymous SNV R134Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 15.65 144289 chr15 25963545 25963545 C A rs142993802 ATP10A Synonymous SNV A455A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 16.42 144290 chr12 124297874 124297874 A G rs148503528 DNAH10 Nonsynonymous SNV N985S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.004 144291 chr12 13140214 13140214 T G HEBP1 Nonsynonymous SNV E90D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.335 144292 chr15 31619910 31619910 G A rs763661609 KLF13 Synonymous SNV R165R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.64 144293 chr11 95825580 95825580 G T rs200362045 MAML2 Synonymous SNV R539R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.416 144294 chr12 133158347 133158347 A G rs199936062 FBRSL1 Nonsynonymous SNV T688A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 23.1 144295 chr11 89916130 89916130 A G rs775818957 NAALAD2 Nonsynonymous SNV R630G 0.001 0 0 0 1 0 0 0 0 0 0 0 30 144296 chr12 133158839 133158839 G A rs746028014 FBRSL1 Nonsynonymous SNV E773K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.5 144297 chr11 4903868 4903868 A T rs187810387 OR51T1 Nonsynonymous SNV I247F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 144298 chr15 35155092 35155092 T C AQR Synonymous SNV T1335T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.671 144299 chr15 35182441 35182441 G A rs35187802 AQR Synonymous SNV L886L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.94 144300 chr12 131498839 131498839 A G rs138163855 ADGRD1 Nonsynonymous SNV N476S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.709 144301 chr15 40754255 40754255 C T rs200336723 BAHD1 Nonsynonymous SNV S525L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 144302 chr15 40863819 40863819 G A rs370216132 RPUSD2 Nonsynonymous SNV R147Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 144303 chr12 133197669 133197669 G A rs148198140 P2RX2 Nonsynonymous SNV R214Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 144304 chr15 40916632 40916632 T A rs141726041 KNL1 Nonsynonymous SNV D1390E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 16.84 144305 chr12 19410441 19410441 G A rs756354823 PLEKHA5 Synonymous SNV P61P 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 9.496 144306 chr15 41192768 41192768 C T rs147751220 VPS18 Synonymous SNV A584A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.34 144307 chr11 5345429 5345429 A G rs147295690 OR51B2 Synonymous SNV Y33Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 144308 chr11 111178866 111178866 C T COLCA2 Nonsynonymous SNV P57S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 144309 chr2 9611549 9611549 A G rs150832292 CPSF3 Nonsynonymous SNV N608S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 144310 chr11 111225079 111225079 G T POU2AF1 Synonymous SNV A226A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 3.588 144311 chr2 10059221 10059221 A G rs774115365 TAF1B Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.412 144312 chr11 113144486 113144486 G T NCAM1-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.56 144313 chr12 101750391 101750391 C T rs577076209 UTP20 Synonymous SNV V1818V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.83 144314 chr2 121708978 121708978 G A rs751984129 GLI2 Synonymous SNV T13T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 14.63 144315 chr15 42178435 42178435 C T rs201188418 SPTBN5 Nonsynonymous SNV A340T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.9 144316 chr12 1702288 1702288 G A rs1019678045 FBXL14 Synonymous SNV C315C 0 0.003 0 0 0 1 0 0 0 0 0 0 3.59 144317 chr2 128459517 128459517 G A rs546376182 SFT2D3 Nonsynonymous SNV E139K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.7 144318 chr15 43120211 43120211 C T rs375070421 TTBK2 Nonsynonymous SNV R151H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 35 144319 chr12 2968090 2968090 G C rs28919869 FOXM1 Nonsynonymous SNV P654R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 14.32 144320 chr2 136558266 136558266 C T rs35891837 LCT Nonsynonymous SNV V1593M 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 2.283 144321 chr12 113664623 113664623 G A rs186758678 TPCN1 Nonsynonymous SNV G61E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.03 144322 chr11 119004893 119004893 G A rs141577387 HINFP Synonymous SNV S207S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.61 144323 chr12 41582542 41582542 C T rs756004928 PDZRN4 Synonymous SNV H95H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 17.71 144324 chr2 141625673 141625673 G A rs78597279 LRP1B Synonymous SNV D1443D 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 10.75 144325 chr12 119968846 119968846 C T CCDC60 Nonsynonymous SNV P510L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 144326 chr2 141739831 141739831 C A rs148724909 LRP1B Nonsynonymous SNV V929L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 144327 chr15 51250991 51250991 - GTAA rs778162120 AP4E1 Frameshift insertion D544Sfs*14 0 0.003 0 1 0 1 0.003 0 0 0 0 0 144328 chr2 27804629 27804629 - GAGAGAAGCCATCACAGTCCCTCT rs781780540 C2orf16 R1748_R1749insSHHSPSER 0.002 0 0 1 2 0 0.003 0 0 0 0 0 144329 chr2 152419146 152419146 G A rs200122580 NEB Synonymous SNV N4589N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.669 144330 chr11 122849978 122849978 G A rs190227799 BSX Synonymous SNV S150S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 15.44 144331 chr2 31399943 31399943 T C CAPN14 Nonsynonymous SNV M641V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.32 144332 chr12 40076602 40076602 A G rs192801657 C12orf40 Synonymous SNV L292L 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.245 144333 chr22 36692948 36692948 G A rs552133535 MYH9 Synonymous SNV I1071I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.81 144334 chr2 160206483 160206483 T C rs144729291 BAZ2B Synonymous SNV S1497S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.018 144335 chr15 63111756 63111756 C T rs761256527 TLN2 Synonymous SNV A2271A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.11 144336 chr2 161056531 161056531 C T rs188990572 ITGB6 Nonsynonymous SNV R15K 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 16.48 144337 chr2 163360965 163360965 C T rs201129707 KCNH7 Synonymous SNV E365E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.528 144338 chr22 38882150 38882150 A G rs111674028 DDX17 Synonymous SNV Y662Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.121 144339 chr2 167262998 167262998 A G rs780688703 SCN7A Synonymous SNV L1381L 0 0 0.007 2 0 0 0.005 2 0 0 0 0 6.473 144340 chr2 167289012 167289012 T A rs148715564 SCN7A Nonsynonymous SNV D803V 0.016 0.01 0.027 7 19 4 0.018 8 1 0 1 0 Likely benign 10.67 144341 chr11 124489324 124489324 C G rs753630095 PANX3 Stop gain Y224X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 144342 chr12 51133230 51133230 C T DIP2B Synonymous SNV Y1405Y 0.003 0 0 0 3 0 0 0 0 0 0 0 9.952 144343 chr15 65703370 65703370 C T rs146891762 IGDCC4 Nonsynonymous SNV V137I 0.001 0.003 0.01 5 1 1 0.013 3 0 0 0 0 15.98 144344 chr2 48033792 48033795 TAAC - rs267608132 MSH6 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 144345 chr2 53927570 53927570 G A rs146031457 ASB3, GPR75-ASB3 Nonsynonymous SNV S286L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 144346 chr12 125591815 125591815 G T rs1004300314 AACS 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 144347 chr2 55214702 55214702 G A rs770464185 RTN4 Nonsynonymous SNV S56F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 144348 chr15 74178953 74178961 GGTGAGGTG - rs752960749 TBC1D21 V224Ffs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 144349 chr11 6816818 6816818 G T rs142218013 OR6A2 Nonsynonymous SNV T41N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 10.08 144350 chr12 12483438 12483438 A T MANSC1 Synonymous SNV T273T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 144351 chr22 46785394 46785394 A G rs375420509 CELSR1 Synonymous SNV N2116N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.291 144352 chr2 179422431 179422431 C T rs749606240 TTN Nonsynonymous SNV R20152H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 144353 chr2 179553445 179553445 G A TTN Nonsynonymous SNV S9475F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21 144354 chr15 76019493 76019493 G A rs146262260 ODF3L1 Nonsynonymous SNV R146Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 144355 chr15 76020064 76020064 T C DNM1P35 0 0.003 0 0 0 1 0 0 0 0 0 0 8.405 144356 chr15 76225042 76225042 G C rs202137178 FBXO22 Nonsynonymous SNV D271H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 144357 chr11 56345181 56345181 T C rs201334046 OR5M10 Nonsynonymous SNV H6R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 144358 chr22 50715314 50715314 G A PLXNB2 Synonymous SNV L1740L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.34 144359 chr22 50962104 50962104 G C rs139003628 SCO2 Nonsynonymous SNV S246W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 144360 chr15 78882694 78882694 A G rs74865777 CHRNA5 Nonsynonymous SNV M321V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.6 144361 chr12 1702219 1702219 T C rs2302029 FBXL14 Synonymous SNV G338G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.175 144362 chr2 10022886 10022886 A G rs758637762 TAF1B Synonymous SNV P253P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.013 144363 chr12 18876347 18876347 C G rs201528465 PLCZ1 Nonsynonymous SNV A89P 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 8.361 144364 chr12 21068989 21068989 A G rs370819902 SLCO1B3 Synonymous SNV L611L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 144365 chr11 57077717 57077717 C T rs778587384 TNKS1BP1 Nonsynonymous SNV R823Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 21 144366 chr11 17574758 17574758 G A rs552304627 OTOG Nonsynonymous SNV V141M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 24.8 144367 chr11 1775120 1775120 G A rs753414433 CTSD Synonymous SNV P328P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.294 144368 chr2 74454683 74454683 G A rs142137764 SLC4A5 Synonymous SNV T975T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.708 144369 chr2 102842430 102842430 T C rs138105991 IL1RL2 Nonsynonymous SNV I213T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.991 144370 chr12 53696860 53696860 G A rs145293089 C12orf10 Synonymous SNV P124P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.2 144371 chr12 54796026 54796026 C T ITGA5 Nonsynonymous SNV A691T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 144372 chr12 20523069 20523069 C A PDE3A Nonsynonymous SNV P284Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 144373 chr2 109964325 109964325 G A rs371145767 SH3RF3 Nonsynonymous SNV A257T 0 0 0.007 0 0 0 0 2 0 0 0 0 3.611 144374 chr12 55356419 55356419 C T rs200398984 TESPA1 Synonymous SNV T212T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.35 144375 chr12 55714429 55714429 A C OR6C1 Nonsynonymous SNV T16P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.75 144376 chr12 5685068 5685068 G T ANO2 Nonsynonymous SNV N851K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 144377 chr15 86189058 86189058 A G rs756916714 AKAP13 Nonsynonymous SNV N56S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.262 144378 chr12 21355597 21355597 C T rs139049237 SLCO1B1 Synonymous SNV A436A 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 16.96 144379 chr11 788537 788537 C T rs779236910 CEND1 Nonsynonymous SNV D14N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 144380 chr2 201994681 201994681 T C CFLAR Synonymous SNV D31D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 144381 chr11 810243 810243 C T rs370622305 RPLP2 Synonymous SNV Y3Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.58 144382 chr2 11800247 11800247 A G rs150931012 NTSR2 Nonsynonymous SNV V304A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.463 144383 chr2 118758408 118758408 G C rs755451281 CCDC93 Nonsynonymous SNV P118A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 144384 chr11 92086472 92086472 A C rs139731877 FAT3 Synonymous SNV V398V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.004 144385 chr11 3113696 3113696 G A rs141858255 OSBPL5 Nonsynonymous SNV T674I 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 Benign 22.5 144386 chr2 209293024 209293024 G A rs147613083 PTH2R Synonymous SNV E58E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.79 144387 chr12 6806827 6806827 C T PIANP Nonsynonymous SNV G50E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.05 144388 chr12 6777113 6777113 - C rs773793927 ZNF384 Frameshift insertion Q385Afs*47 0.002 0.003 0 0 2 1 0 0 0 0 0 0 144389 chr12 6777114 6777114 - GCTGCTGC ZNF384 Frameshift insertion Q387Hfs*49 0.002 0.003 0 0 2 1 0 0 0 0 0 0 144390 chr12 6925529 6925529 A G CD4 Synonymous SNV T126T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 144391 chr11 34161948 34161948 C A rs73500465 NAT10 Synonymous SNV A735A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.243 144392 chr11 34189501 34189501 G A rs115626153 ABTB2 Synonymous SNV D534D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.051 144393 chr11 9546911 9546911 A G rs200965856 ZNF143 Nonsynonymous SNV N573S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 144394 chr11 61541543 61541543 A G rs759704915 MYRF Nonsynonymous SNV Y407C 0 0 0 1 0 0 0.003 0 0 0 0 0 27 144395 chr12 50146761 50146761 C T rs58919844 TMBIM6 Nonsynonymous SNV P79L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 144396 chr12 7048153 7048153 A C ATN1 Synonymous SNV P1009P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 144397 chr2 119600585 119600585 G A rs72955069 EN1 Synonymous SNV L370L 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 9.86 144398 chr12 71950441 71950441 C T rs61737419 LGR5 Synonymous SNV C157C 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 11.94 144399 chr12 7174994 7174994 G T rs201750214 C1S Nonsynonymous SNV D205Y 0.009 0.01 0 2 10 4 0.005 0 0 0 0 0 11.16 144400 chr12 71977811 71977811 C T rs148090210 LGR5 Nonsynonymous SNV T650M 0 0.005 0 0 0 2 0 0 0 0 0 0 13.05 144401 chr12 75692700 75692700 G A rs202140699 CAPS2 Nonsynonymous SNV H88Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.504 144402 chr11 62293034 62293034 T C rs137943783 AHNAK Nonsynonymous SNV K2952R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 144403 chr2 128381783 128381783 G A rs375117051 MYO7B Nonsynonymous SNV R1286Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 144404 chr16 1268518 1268518 G A rs764500957 CACNA1H Synonymous SNV K1912K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.443 144405 chr12 51689611 51689611 T A rs148656859 BIN2 Nonsynonymous SNV N212Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 144406 chr2 220161785 220161785 G C rs200950374 PTPRN Nonsynonymous SNV Q691E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.25 144407 chr16 1271962 1271962 C A TPSG1 Nonsynonymous SNV W264C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 144408 chr11 626922 626922 G A SCT Stop gain Q47X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 144409 chr2 163133952 163133952 C T rs746781048 IFIH1 Nonsynonymous SNV D673N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 144410 chr12 8086459 8086459 T C SLC2A3 Nonsynonymous SNV I19V 0.009 0.013 0 1 11 5 0.003 0 1 0 0 0 20.7 144411 chr16 1470583 1470583 C G rs45490596 C16orf91 Nonsynonymous SNV W21C 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 7.522 144412 chr12 50479277 50479277 C T SMARCD1 Nonsynonymous SNV P42L 0.002 0 0 0 2 0 0 0 1 0 0 0 24.3 144413 chr2 167163094 167163094 G A rs199756028 SCN9A Synonymous SNV L131L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.49 144414 chr12 109017966 109017966 G A rs143908893 SELPLG Nonsynonymous SNV R56W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.1 144415 chr11 63987022 63987022 C T rs78713523 FERMT3 Synonymous SNV S307S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 19.91 144416 chr11 64003410 64003410 C T rs139094226 VEGFB Nonsynonymous SNV R77C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 144417 chr11 48166323 48166323 A G rs533826195 PTPRJ Nonsynonymous SNV E891G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.72 144418 chr12 53004410 53004410 G A rs149745115 KRT73 Synonymous SNV G440G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 144419 chr2 141459304 141459304 C T rs374473207 LRP1B Nonsynonymous SNV R2138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 144420 chr12 53565710 53565710 C T rs147020312 CSAD Nonsynonymous SNV R136Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 144421 chr12 53693528 53693528 C G rs143723459 C12orf10 Nonsynonymous SNV H3D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.85 144422 chr12 95602786 95602786 T C rs762587857 FGD6 Synonymous SNV P758P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.527 144423 chr12 53714400 53714400 G A AAAS Nonsynonymous SNV T67I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.65 144424 chr12 53900627 53900627 C T rs199569723 NPFF Nonsynonymous SNV R95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 144425 chr2 175437103 175437103 G C rs144275492 WIPF1 Nonsynonymous SNV P144A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 144426 chr2 177016603 177016603 A T rs104893636 HOXD4 Nonsynonymous SNV E81V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.301 144427 chr2 160206540 160206540 T A BAZ2B Synonymous SNV T1478T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.038 144428 chr11 65486562 65486562 T C rs987901093 KAT5 Synonymous SNV H465H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.031 144429 chr2 179496905 179496905 C A rs200065187 TTN Synonymous SNV G5507G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 15.11 144430 chr12 56351401 56351401 T C rs148568175 PMEL Nonsynonymous SNV N143S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.57 144431 chr16 2367764 2367764 T A rs149989682 ABCA3 Nonsynonymous SNV E292V 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 31 144432 chr16 23716289 23716289 C T rs753715296 ERN2 Nonsynonymous SNV A257T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.96 144433 chr11 65652653 65652653 T C rs1053402237 FIBP Synonymous SNV S217S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.123 144434 chr13 113729318 113729318 G A rs146112954 MCF2L Nonsynonymous SNV V337M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.389 144435 chr11 66358691 66358691 T C rs950922694 CCDC87 Nonsynonymous SNV K599R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.482 144436 chr11 67232275 67232275 T - TMEM134 V154Sfs*4 0.002 0 0 1 2 0 0.003 0 0 0 0 0 144437 chr11 67232277 67232306 CAGGCACCAACAACAGGAAGCCCGGCACGA - TMEM134 Stop gain F143_K180del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 144438 chr16 29810476 29810476 T A rs756641324 KIF22 Nonsynonymous SNV S176T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 144439 chr16 29821429 29821429 - GCGGCGGCG rs751657896 MAZ A143_V144insAAA 0 0.003 0 0 0 1 0 0 0 0 0 0 144440 chr16 29821441 29821441 G A rs370548510 MAZ Synonymous SNV A136A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.033 144441 chr12 124210758 124210758 T C rs140835376 ATP6V0A2 Synonymous SNV Y149Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.001 144442 chr11 67926515 67926515 T C rs139388711 KMT5B Nonsynonymous SNV N261S 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 0.966 144443 chr12 124326016 124326016 G A rs779681087 DNAH10 Nonsynonymous SNV V1644I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.65 144444 chr12 124341778 124341778 C T rs199575194 DNAH10 Nonsynonymous SNV A2087V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.367 144445 chr13 111532375 111532375 G A rs745819829 ANKRD10 Nonsynonymous SNV P291L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 8.861 144446 chr12 65088670 65088670 G A rs74098110 RASSF3 Nonsynonymous SNV R232H 0.003 0 0 0 4 0 0 0 0 0 0 0 16.14 144447 chr12 130834476 130834476 C T rs200572269 PIWIL1 Synonymous SNV D336D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 9.768 144448 chr13 114806502 114806502 G A rs142665593 RASA3 Nonsynonymous SNV H84Y 0.004 0 0 0 5 0 0 0 0 0 0 0 24.1 144449 chr11 6977018 6977018 G A rs117944949 ZNF215 Synonymous SNV E32E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.172 144450 chr2 197711924 197711924 C T rs148349860 PGAP1 Synonymous SNV G262G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 144451 chr11 69933992 69933992 G A rs369009893 ANO1 Synonymous SNV R81R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 5.03 144452 chr16 3187675 3187675 C A rs372001670 ZNF213 Synonymous SNV R132R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.1 144453 chr2 200137318 200137318 C A rs141436870 SATB2 Synonymous SNV P606P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 4.465 144454 chr12 133146665 133146665 G A rs180891480 FBRSL1 Nonsynonymous SNV R282H 0.001 0.01 0 4 1 4 0.01 0 0 0 0 0 16.9 144455 chr12 133182783 133182783 - CAG rs112975396 LRCOL1 L18_G19insL 0 0.005 0 3 0 2 0.008 0 0 0 0 0 144456 chr13 25418790 25418790 T G rs757964230 RNF17 Nonsynonymous SNV S944R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 144457 chr11 71725089 71725089 G A rs61740456 NUMA1 Nonsynonymous SNV R1154W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 144458 chr12 133294662 133294662 G A rs17850304 PGAM5 Synonymous SNV E225E 0.002 0.005 0.007 3 2 2 0.008 2 0 0 0 0 Benign 8.808 144459 chr12 133295382 133295382 C G rs17855393 PGAM5 Nonsynonymous SNV L252V 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 0.912 144460 chr12 133306780 133306780 A G rs11545751 ANKLE2 Synonymous SNV N656N 0.003 0.005 0.007 3 3 2 0.008 2 0 0 0 0 2.019 144461 chr12 133306787 133306787 C T rs77116800 ANKLE2 Nonsynonymous SNV R654Q 0 0.005 0 3 0 2 0.008 0 0 0 0 0 Benign 20.9 144462 chr12 71148373 71148373 T C rs374590029 PTPRR Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 3.234 144463 chr2 204305402 204305402 C T rs144494517 RAPH1 Synonymous SNV P837P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 144464 chr12 72083379 72083379 C T rs139987159 TMEM19 Stop gain R47X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 144465 chr12 66724939 66724939 C T rs532711774 HELB Synonymous SNV S892S 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 11.56 144466 chr13 45602125 45602125 A G rs140810909 GPALPP1 Nonsynonymous SNV N337S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.959 144467 chr12 7842773 7842773 G A rs140926412 GDF3 Nonsynonymous SNV R266C 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 144468 chr12 20786680 20786680 G A rs752970172 PDE3A Nonsynonymous SNV S283N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.792 144469 chr13 32821593 32821593 A T rs768316543 FRY Nonsynonymous SNV K2321M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 144470 chr16 4845835 4845838 TTCA - rs748977164 SMIM22 F34Lfs*59 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 144471 chr16 4910761 4910761 A G rs898204484 UBN1 Synonymous SNV K256K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.224 144472 chr16 4934485 4934485 G A rs34645685 PPL Nonsynonymous SNV R1391W 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 22.5 144473 chr3 21706492 21706492 C T rs769275058 ZNF385D Synonymous SNV P17P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.84 144474 chr2 211442199 211442199 A T CPS1 Nonsynonymous SNV T146S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.541 144475 chr3 30769803 30769803 G A GADL1 Synonymous SNV S499S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.95 144476 chr3 32022575 32022575 A G OSBPL10 Nonsynonymous SNV C33R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.98 144477 chr12 77444400 77444400 G T rs148903382 E2F7 Nonsynonymous SNV T165N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.8 144478 chr13 47409048 47409048 G A rs6308 HTR2A Nonsynonymous SNV A363V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 9.975 144479 chr13 95899898 95899898 C T ABCC4 Nonsynonymous SNV G62R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.222 144480 chr12 95365254 95365256 TCT - rs561604238 NDUFA12 K133del 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 144481 chr13 61986223 61986223 C T rs61749965 PCDH20 Nonsynonymous SNV R670Q 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 10.98 144482 chr13 73573048 73573048 A C rs41286070 PIBF1 Nonsynonymous SNV H713P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 2.732 144483 chr13 76375006 76375006 G C rs74596180 LMO7 Nonsynonymous SNV G175R 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 12.81 144484 chr14 103433397 103433397 C T CDC42BPB Synonymous SNV A819A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.43 144485 chr12 96259792 96259792 T C rs781536604 SNRPF Synonymous SNV N68N 0.003 0 0 0 3 0 0 0 0 0 0 0 5.711 144486 chr13 78177265 78177265 C T SCEL Synonymous SNV T342T 0.003 0.008 0 6 4 3 0.015 0 0 0 0 0 5.867 144487 chr16 68371469 68371469 G A rs138763605 PRMT7 Nonsynonymous SNV V117M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.35 144488 chr11 92523337 92523337 G A rs748097452 FAT3 Nonsynonymous SNV E1522K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 144489 chr2 215882749 215882749 G T rs148979792 ABCA12 Nonsynonymous SNV P271T 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 Benign/Likely benign 12.04 144490 chr16 70497102 70497102 G T rs201790833 FCSK Nonsynonymous SNV Q3H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 2.644 144491 chr12 49230355 49230355 G A DDX23 Synonymous SNV Y411Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.878 144492 chr14 105643017 105643017 G A rs117624322 NUDT14 Synonymous SNV P94P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.441 144493 chr12 100930769 100930769 C T rs748378207 NR1H4 Nonsynonymous SNV T298M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 33 144494 chr3 46871903 46871903 A G PRSS42P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.098 144495 chr13 113768241 113768241 C T F7 Nonsynonymous SNV L49F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 144496 chr12 51589938 51589938 A G rs536914679 POU6F1 Nonsynonymous SNV W332R 0 0.003 0 0 0 1 0 0 0 0 0 0 28 144497 chr2 220355242 220355242 C T rs371546535 SPEG Synonymous SNV Y3011Y 0.004 0 0 0 5 0 0 0 0 0 0 0 12.63 144498 chr2 238536332 238536332 C T rs755430435 LRRFIP1 Synonymous SNV N15N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.786 144499 chr16 75147466 75147466 C T LDHD Stop gain W374X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 144500 chr2 220404615 220404615 C T rs34895265 CHPF Synonymous SNV P444P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.17 144501 chr13 113732740 113732740 G A rs200142815 MCF2L Nonsynonymous SNV R537Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23 144502 chr14 21109710 21109710 A C OR6S1 Nonsynonymous SNV I47M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.17 144503 chr12 105558019 105558019 C G rs143138958 WASHC4 Synonymous SNV A1097A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 8.359 144504 chr13 115090803 115090803 A T CHAMP1 Nonsynonymous SNV T496S 0.009 0 0 4 11 0 0.01 0 0 0 0 0 0.002 144505 chr12 106633985 106633985 T C rs758365339 CKAP4 Nonsynonymous SNV N209S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 144506 chr13 25428081 25428081 A G rs200278514 RNF17 Nonsynonymous SNV I1133V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 144507 chr2 240011747 240011747 G A rs144099208 HDAC4 Synonymous SNV C777C 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 13.69 144508 chr2 240036848 240036848 C T rs114495208 HDAC4 Synonymous SNV K559K 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 Benign 9.56 144509 chr12 109096628 109096628 G A rs746361122 CORO1C Nonsynonymous SNV A33V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.72 144510 chr12 109096629 109096629 C A rs758883297 CORO1C Nonsynonymous SNV A33S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.71 144511 chr2 228197306 228197306 - TGGCAGACTAAA MFF 0.004 0 0 0 5 0 0 0 0 0 0 0 144512 chr13 21957120 21957120 G A rs138594651 ZDHHC20 Nonsynonymous SNV R232C 0.008 0.01 0.007 9 9 4 0.023 2 0 0 0 0 29.4 144513 chr2 228860350 228860350 G A rs779890171 SPHKAP Synonymous SNV P1503P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.368 144514 chr2 242501804 242501804 G A rs145752883 BOK Nonsynonymous SNV V88M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 144515 chr2 242707149 242707149 T C rs121434360 D2HGDH Nonsynonymous SNV V310A 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 22.5 144516 chr12 110206487 110206487 C T rs182420516 FAM222A Synonymous SNV P251P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.04 144517 chr2 232209792 232209792 G A rs990245262 ARMC9 Nonsynonymous SNV G629R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 144518 chr12 53459708 53459708 C T SPRYD3 Nonsynonymous SNV A413T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 144519 chr12 53566212 53566212 G A rs144788415 CSAD Nonsynonymous SNV R88W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 144520 chr12 112184086 112184086 G A rs150349412 ACAD10 Nonsynonymous SNV E752K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.5 144521 chr14 24731498 24731498 T C rs140542428 TGM1 Nonsynonymous SNV T21A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.018 144522 chr12 54645847 54645847 A G CBX5 Nonsynonymous SNV I101T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 144523 chr16 87637896 87637896 - CTGCTG JPH3 A157_V158insAA 0.002 0.005 0 0 2 2 0 0 0 0 0 0 144524 chr16 87724003 87724003 G C rs761253206 JPH3 Synonymous SNV A679A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.703 144525 chr2 238643950 238643950 C T rs374484573 LRRFIP1 Nonsynonymous SNV R177W 0.001 0 0 0 1 0 0 0 0 0 0 0 4.461 144526 chr14 30396461 30396461 G A PRKD1 Synonymous SNV D86D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 144527 chr12 117158188 117158188 C T rs76041009 C12orf49 Synonymous SNV T81T 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 15.07 144528 chr14 31792896 31792896 G A rs186098312 HEATR5A Nonsynonymous SNV P1221L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.2 144529 chr2 29295065 29295065 C T rs149601594 PCARE Nonsynonymous SNV C688Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.48 144530 chr13 41240316 41240316 G A FOXO1 Nonsynonymous SNV P12S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 144531 chr12 120660719 120660719 C T rs749697934 PXN Nonsynonymous SNV R147H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 144532 chr3 69239056 69239056 A T rs765403595 FRMD4B Nonsynonymous SNV Y588N 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.2 144533 chr3 77684136 77684136 G A rs200933374 ROBO2 Synonymous SNV K1292K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.01 144534 chr13 52544743 52544743 T C rs914451059 ATP7B Synonymous SNV A476A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.091 144535 chr13 88329501 88329501 G A rs77465795 SLITRK5 Nonsynonymous SNV V620I 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 9.951 144536 chr16 89753125 89753125 G C CDK10 Nonsynonymous SNV E3Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 144537 chr2 43451994 43451994 C T rs538857577 ZFP36L2 Nonsynonymous SNV G317S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.39 144538 chr11 63357726 63357726 T C PLAAT3 Nonsynonymous SNV N78S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 144539 chr14 38152079 38152079 G A rs183722414 TTC6 Synonymous SNV S405S 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 6.631 144540 chr12 67691396 67691396 A G CAND1 Nonsynonymous SNV Y234C 0 0.003 0 0 0 1 0 0 0 0 0 0 24 144541 chr3 9952678 9952678 C T rs767101306 IL17RE Nonsynonymous SNV T195I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.96 144542 chr2 55252561 55252561 G T rs199778380 RTN4 Nonsynonymous SNV L686I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 144543 chr3 10354279 10354279 C T rs115961173 SEC13 Synonymous SNV A86A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.55 144544 chr17 12896200 12896200 - ATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG ELAC2 D765_G766insRELRQVRAALLSRELAGGLED 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 144545 chr14 61190025 61190025 C T rs779390509 SIX4 Synonymous SNV L256L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.53 144546 chr12 7045894 7045894 - CAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQ 0.001 0.008 0 0 1 3 0 0 0 0 0 0 144547 chr12 130941119 130941119 C G rs201638148 RIMBP2 Nonsynonymous SNV A77P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.39 144548 chr14 62233654 62233654 G C rs144535324 SNAPC1 Nonsynonymous SNV W63C 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 25.3 144549 chr12 7169898 7169898 T C C1S Nonsynonymous SNV I42T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 144550 chr14 100361077 100361077 G A rs768458744 EML1 Nonsynonymous SNV R220K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.85 144551 chr2 63631219 63631219 C A WDPCP Stop gain E308X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 144552 chr14 102482354 102482354 C T DYNC1H1 Synonymous SNV N2468N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 15.16 144553 chr11 64898191 64898191 G A rs776749979 SYVN1 Nonsynonymous SNV A349V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 144554 chr3 15807793 15807793 G A rs138689821 ANKRD28 Nonsynonymous SNV T14M 0.002 0 0 0 2 0 0 0 0 0 0 0 9.975 144555 chr2 7003680 7003680 T C rs77719173 CMPK2 Synonymous SNV A235A 0.001 0 0.014 0 1 0 0 4 0 0 0 0 4.357 144556 chr14 103568747 103568747 C G rs10142287 EXOC3L4 Synonymous SNV P229P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.957 144557 chr14 103576468 103576468 G A rs544292874 EXOC3L4 Nonsynonymous SNV G693R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.483 144558 chr14 105954671 105954671 G A rs369446226 CRIP1 Nonsynonymous SNV E47K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 144559 chr12 80935342 80935342 G C rs937314411 PTPRQ Nonsynonymous SNV G883R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 144560 chr2 71742821 71742821 C T rs376154300 DYSF Synonymous SNV T245T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 13.33 144561 chr2 71847685 71847685 C T DYSF Synonymous SNV D1459D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.25 144562 chr14 70989947 70989947 T C rs58669540 ADAM20 Nonsynonymous SNV N510D 0.005 0.013 0.01 1 6 5 0.003 3 0 0 0 0 0.454 144563 chr14 105361235 105361235 T C CEP170B Synonymous SNV C1500C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.057 144564 chr12 14834363 14834363 G A rs778141596 GUCY2C Synonymous SNV L220L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 6.949 144565 chr2 74392394 74392394 A C MOB1A Synonymous SNV T119T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.743 144566 chr14 73718427 73718427 G A rs138204293 PAPLN Synonymous SNV A242A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.049 144567 chr2 84804515 84804515 C A rs149725294 DNAH6 Nonsynonymous SNV P687T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 144568 chr14 75022257 75022257 T G rs372209109 LTBP2 Synonymous SNV R324R 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Uncertain significance 0.184 144569 chr14 64653208 64653208 T C rs370682788 SYNE2 Synonymous SNV L5875L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.871 144570 chr12 21327601 21327601 T C rs200227560 SLCO1B1 Nonsynonymous SNV I106T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 0.722 144571 chr2 88125191 88125191 G A RGPD2 Nonsynonymous SNV P20S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.24 144572 chr2 88125215 88125215 G C rs980896049 RGPD2 Nonsynonymous SNV L12V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.003 144573 chr12 21526351 21526351 T C rs62871062 IAPP Synonymous SNV A22A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.104 144574 chr14 76666233 76666233 C G rs533250994 GPATCH2L Nonsynonymous SNV F433L 0.008 0.008 0 4 9 3 0.01 0 0 0 0 0 0.852 144575 chr2 95815733 95815733 A G rs199514092 ZNF514 Nonsynonymous SNV L239P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.99 144576 chr2 96952192 96952192 C T SNRNP200 Nonsynonymous SNV R1287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 144577 chr14 70263520 70263520 A T SLC10A1 Nonsynonymous SNV L118H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 144578 chr12 980476 980476 G A WNK1 Nonsynonymous SNV G729R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 144579 chr12 98921702 98921702 T A rs772509210 TMPO Nonsynonymous SNV D106E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.56 144580 chr3 126708085 126708085 G A rs529263070 PLXNA1 Nonsynonymous SNV G217S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.54 144581 chr3 42679744 42679744 G A NKTR Nonsynonymous SNV E850K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 144582 chr11 69933928 69933928 G A rs199526216 ANO1 Nonsynonymous SNV R60H 0.004 0 0 0 5 0 0 0 0 0 0 0 32 144583 chr14 23548927 23548927 G A rs115842044 ACIN1 Synonymous SNV D557D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.017 144584 chr3 10183796 10183796 C T VHL Nonsynonymous SNV L89F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.1 144585 chr3 44607004 44607004 A - ZKSCAN7 M151Cfs*88 0.001 0 0 0 1 0 0 0 0 0 0 0 144586 chr3 10334308 10334308 G C rs533608721 GHRLOS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.775 144587 chr14 23886838 23886838 G C rs148788346 MYH7 Synonymous SNV A1409A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.638 144588 chr3 111312979 111312979 C G ZBED2 Nonsynonymous SNV E24Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 144589 chr11 73361679 73361679 C T rs778240918 PLEKHB1 Nonsynonymous SNV A40V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.1 144590 chr3 113323793 113323793 C G rs3732796 SIDT1 Synonymous SNV P396P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.814 144591 chr14 24868537 24868537 C T rs751013349 NYNRIN Synonymous SNV L29L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.25 144592 chr12 48187202 48187202 C T rs201969226 HDAC7 Nonsynonymous SNV R506Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.58 144593 chr13 114312354 114312354 T A rs9285616 ATP4B Nonsynonymous SNV R36W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 144594 chr3 121260205 121260205 G A rs142289848 POLQ Synonymous SNV Y155Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.855 144595 chr3 48465432 48465432 C T PLXNB1 Nonsynonymous SNV A197T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 144596 chr14 90736652 90736652 G A PSMC1 Nonsynonymous SNV D382N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 144597 chr3 151165558 151165559 AA - rs780500419 IGSF10 Stop gain F737* 0.001 0 0 2 1 0 0.005 0 0 0 0 0 144598 chr12 49373410 49373410 T A rs61758378 WNT1 Nonsynonymous SNV S88R 0.009 0 0.003 3 10 0 0.008 1 0 0 0 0 Likely benign 13.78 144599 chr14 51224606 51224606 C G NIN Nonsynonymous SNV G1048R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.248 144600 chr15 26026311 26026311 C T rs146522541 ATP10A Nonsynonymous SNV R170H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.74 144601 chr12 49434939 49434939 G T KMT2D Nonsynonymous SNV A2205D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 144602 chr15 28235757 28235757 G C rs769767739 OCA2 Nonsynonymous SNV L361V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.89 144603 chr14 45605287 45605287 G A rs146609069 FANCM Nonsynonymous SNV R18Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.2 144604 chr12 49992673 49992673 G A rs200823605 FAM186B Synonymous SNV A743A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.677 144605 chr3 160395148 160395148 G A rs764074683 ARL14 Nonsynonymous SNV G5D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.145 144606 chr3 125223500 125223500 T C rs765073894 SNX4 Nonsynonymous SNV Q77R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 144607 chr17 36667020 36667020 C T rs1022033643 ARHGAP23 Nonsynonymous SNV P1430S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 1.169 144608 chr12 52174435 52174435 C T rs187327463 SCN8A Synonymous SNV V1274V 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Benign/Likely benign 12.65 144609 chr3 128707752 128707752 C T rs373049779 KIAA1257 Nonsynonymous SNV G91E 0 0 0.003 0 0 0 0 1 0 0 0 0 23 144610 chr3 180349369 180349369 C T rs368439919 CCDC39 Nonsynonymous SNV R629H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.07 144611 chr3 53736836 53736836 T G rs150652713 CACNA1D Nonsynonymous SNV N463K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.335 144612 chr17 38910190 38910190 G C rs560835445 KRT25 Synonymous SNV T197T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.251 144613 chr13 37393699 37393699 A C RFXAP Nonsynonymous SNV K69Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.361 144614 chr3 58094945 58094945 C T rs200554477 FLNB Nonsynonymous SNV R699W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 35 144615 chr3 184001584 184001584 C G rs369483010 ECE2, EEF1AKMT4-ECE2 Synonymous SNV A247A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.33 144616 chr12 53003059 53003059 G T rs35061049 KRT73 Synonymous SNV S446S 0.01 0.003 0 4 12 1 0.01 0 0 0 0 0 11.56 144617 chr3 65342135 65342135 T C rs201195412 MAGI1 Nonsynonymous SNV Q1436R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 144618 chr14 64608748 64608748 A G rs149617373 SYNE2 Nonsynonymous SNV D5083G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 0.463 144619 chr15 32928853 32928853 G A rs61758695 ARHGAP11A Nonsynonymous SNV V438I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.047 144620 chr15 32929696 32929696 T C ARHGAP11A Nonsynonymous SNV C719R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.028 144621 chr3 185341870 185341870 C T rs75841015 SENP2 Synonymous SNV H537H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.873 144622 chr3 134089762 134089762 C T rs758673941 AMOTL2 Nonsynonymous SNV A230T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 144623 chr12 102433715 102433715 T C WASHC3 Synonymous SNV V121V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.254 144624 chr13 50123648 50123648 C T rs150189495 RCBTB1 Nonsynonymous SNV D331N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27 144625 chr3 186571038 186571038 A G rs147185738 ADIPOQ Nonsynonymous SNV E64G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 25 144626 chr14 71443816 71443816 T G rs35702999 PCNX1 Synonymous SNV S254S 0.007 0.003 0.014 0 8 1 0 4 0 0 0 0 0.716 144627 chr14 67555788 67555788 C G GPHN Synonymous SNV V378V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 144628 chr13 53624241 53624241 G C rs372473325 OLFM4 Nonsynonymous SNV V290L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 144629 chr12 53455042 53455042 A G rs117152710 TNS2 Nonsynonymous SNV T1128A 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 0.002 144630 chr15 43164813 43164813 C T rs756076464 TTBK2 Synonymous SNV L71L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.98 144631 chr15 40590513 40590513 C T rs190513619 PLCB2 Nonsynonymous SNV V356M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 144632 chr12 53818241 53818241 G A rs368257761 AMHR2 Synonymous SNV Q73Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.935 144633 chr3 146318198 146318198 G A rs370926969 PLSCR5 Synonymous SNV D22D 0 0 0.007 0 0 0 0 2 0 0 0 0 1.484 144634 chr12 53874973 53874973 G T rs377738660 MAP3K12 Nonsynonymous SNV P891H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.3 144635 chr3 147108822 147108822 C A ZIC4 Synonymous SNV S94S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 144636 chr3 147108825 147108826 AT - rs776913046 ZIC4 D93Vfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 144637 chr3 147108827 147108827 - G rs762209325 ZIC4 Frameshift insertion D93Rfs*46 0 0 0.003 0 0 0 0 1 0 0 0 0 144638 chr3 147108829 147108829 - GTAGCCC rs765482543 ZIC4 Frameshift insertion Y92Wfs*49 0 0 0.003 0 0 0 0 1 0 0 0 0 144639 chr12 54576367 54576367 C T SMUG1 Nonsynonymous SNV G7D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.22 144640 chr12 54676404 54676404 G A rs182937540 HNRNPA1 Nonsynonymous SNV G211S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Likely benign 23 144641 chr3 107429371 107429371 A G rs1000814939 BBX Nonsynonymous SNV K22E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 144642 chr17 4005624 4005624 C T rs150594706 ZZEF1 Synonymous SNV P553P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.08 144643 chr3 194386985 194386987 TTC - rs566772355 LSG1 E127del 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 144644 chr14 74759910 74759910 T C rs779676647 ABCD4 Nonsynonymous SNV Q150R 0.006 0 0 3 7 0 0.008 0 0 0 0 0 18.95 144645 chr17 40826011 40826011 G A rs370126779 PLEKHH3 Nonsynonymous SNV T80I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.6 144646 chr14 75329602 75329602 A G PROX2 Synonymous SNV P312P 0.006 0 0 3 7 0 0.008 0 0 0 0 0 18.27 144647 chr14 100793617 100793617 G A rs142446085 SLC25A47 Synonymous SNV A79A 0.002 0.013 0.007 4 2 5 0.01 2 0 0 0 0 11.88 144648 chr12 55846350 55846350 A C rs760144869 OR6C2 Nonsynonymous SNV Y118S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 144649 chr3 151129262 151129262 C T rs753657179 MED12L Nonsynonymous SNV S2001L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 144650 chr3 111888130 111888130 A G rs140783319 SLC9C1 Nonsynonymous SNV C941R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 2.016 144651 chr12 55945876 55945876 C G rs142792104 OR6C4 Nonsynonymous SNV T289S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 144652 chr15 42166505 42166505 A G rs187260434 SPTBN5 Synonymous SNV L1558L 0.006 0 0 0 7 0 0 0 0 0 0 0 0.473 144653 chr12 56494932 56494932 T C rs77822103 ERBB3 Nonsynonymous SNV S1097P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 24.3 144654 chr3 195953928 195953928 T C SLC51A Nonsynonymous SNV Y76H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.953 144655 chr12 56642623 56642623 C T rs200392444 ANKRD52 Nonsynonymous SNV D542N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.28 144656 chr12 56742997 56742997 T C rs2066811 STAT2 Nonsynonymous SNV I464V 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Benign 0.266 144657 chr12 56755058 56755058 A G rs4301822 APOF Nonsynonymous SNV I311T 0.007 0.008 0.017 2 8 3 0.005 5 1 0 1 0 11.52 144658 chr3 112969422 112969422 G A rs542911830 BOC Nonsynonymous SNV V40I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 144659 chr3 112991507 112991507 G A rs976876207 BOC Synonymous SNV G306G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.546 144660 chr12 57112255 57112255 T C rs369779499 NACA Nonsynonymous SNV K1020R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.628 144661 chr12 57139834 57139834 C G rs138507980 PRIM1 Nonsynonymous SNV V192L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.31 144662 chr12 57437119 57437119 C T rs55679042 MYO1A Nonsynonymous SNV V306M 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign/Likely benign 8.504 144663 chr12 57585234 57585234 G A rs760765047 LRP1 Synonymous SNV L2456L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.954 144664 chr12 116421089 116421089 A T rs757338321 MED13L Synonymous SNV I1596I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 4.071 144665 chr15 43552441 43552441 T C TGM5 Nonsynonymous SNV H82R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 144666 chr3 118865127 118865129 GAA - rs147862138 TEX55 E32del 0.006 0.003 0.014 1 7 1 0.003 4 0 0 0 0 144667 chr17 44962477 44962477 C T WNT9B Nonsynonymous SNV P328S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.72 144668 chr3 119133988 119133988 G A rs765739831 ARHGAP31 Nonsynonymous SNV S1071N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 144669 chr14 94526577 94526577 C T rs768249842 DDX24 Nonsynonymous SNV A594T 0.004 0 0 0 5 0 0 0 0 0 0 0 33 144670 chr3 183442260 183442260 C T rs757089687 YEATS2 Synonymous SNV L197L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 144671 chr12 6666443 6666443 G A NOP2 Nonsynonymous SNV P715S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.737 144672 chr3 186256717 186256717 C T rs144124671 CRYGS Nonsynonymous SNV G102E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.028 144673 chr4 3494918 3494918 G A rs370039804 DOK7 Nonsynonymous SNV R92Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.4 144674 chr12 6936290 6936290 C T rs371430068 GPR162 Nonsynonymous SNV T279M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 144675 chr14 95088726 95088726 T - rs771543687 SERPINA3 Stop gain Y322* 0.003 0 0.003 0 3 0 0 1 0 0 0 0 144676 chr12 7053014 7053014 C T rs116861153 RNU7-1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.651 144677 chr3 186435401 186435401 G A rs145533184 KNG1 Nonsynonymous SNV E24K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 144678 chr17 48560824 48560824 G A rs375119650 RSAD1 Nonsynonymous SNV R343H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 20.2 144679 chr3 186953672 186953672 C A MASP1 Nonsynonymous SNV D663Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 144680 chr14 21558850 21558850 G T rs374707232 ZNF219 Synonymous SNV R672R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 144681 chr12 129100824 129100824 G A rs529154677 TMEM132C Nonsynonymous SNV V417M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 144682 chr4 6304189 6304189 G A rs71526454 WFS1 Synonymous SNV A889A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.427 144683 chr3 124774665 124774665 - CAT rs557156973 HEG1 L23_P24insM 0.009 0.005 0 2 11 2 0.005 0 4 1 0 1 144684 chr3 19295267 19295267 C T rs11923699 KCNH8 Synonymous SNV S66S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.75 144685 chr3 193209140 193209140 A G rs181256207 ATP13A4 Nonsynonymous SNV I194T 0.005 0 0.007 0 6 0 0 2 0 0 0 0 26.2 144686 chr12 132401102 132401102 C T rs147399196 ULK1 Nonsynonymous SNV R680W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 144687 chr14 23524771 23524771 C T rs142937183 CDH24 Nonsynonymous SNV A58T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.72 144688 chr15 78640309 78640309 T G CRABP1 Nonsynonymous SNV V135G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 144689 chr12 8200652 8200652 G A FOXJ2 Nonsynonymous SNV G331E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 144690 chr15 28327000 28327000 G A rs369625319 OCA2 Synonymous SNV D7D 0.003 0 0 0 3 0 0 0 0 0 0 0 9.769 144691 chr3 195595091 195595091 C T rs199680214 TNK2 Nonsynonymous SNV R710Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 11.83 144692 chr14 23896927 23896927 G T rs201860580 MYH7 Synonymous SNV I585I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.991 144693 chr3 195785192 195785192 T C TFRC Nonsynonymous SNV Y265C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 144694 chr15 40557027 40557027 C T rs11544039 BUB1B-PAK6, PAK6 Nonsynonymous SNV A14V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 144695 chr4 15534868 15534868 A G rs144439937 CC2D2A Nonsynonymous SNV K507E 0.006 0 0.007 6 7 0 0.015 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 144696 chr17 56690784 56690784 G A rs141801212 TEX14 Stop gain R341X 0 0.005 0 3 0 2 0.008 0 0 0 0 0 Likely benign 36 144697 chr3 21447492 21447492 G A rs4857993 VENTXP7 0 0 0.034 0 0 0 0 10 0 0 1 0 3.389 144698 chr3 21447724 21447724 C T rs11718548 VENTXP7 0 0 0.095 0 0 0 0 28 0 0 5 0 2.402 144699 chr3 21448035 21448035 C A rs72625843 VENTXP7 0 0 0.034 0 0 0 0 10 0 0 1 0 7.996 144700 chr17 61271478 61271478 T C TANC2 Nonsynonymous SNV M113T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.03 144701 chr15 41226900 41226900 T C rs202220884 DLL4 Synonymous SNV N335N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.557 144702 chr15 74467462 74467462 C T rs199636609 ISLR Nonsynonymous SNV T88M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.734 144703 chr15 86123809 86123809 C T rs114703106 AKAP13 Nonsynonymous SNV T837M 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 22.7 144704 chr3 33249326 33249326 T A rs72861038 SUSD5 Nonsynonymous SNV Y128F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.89 144705 chr3 137886112 137886112 A G rs144351137 DBR1 Synonymous SNV D175D 0.003 0 0 0 3 0 0 0 0 0 0 0 6.402 144706 chr17 62523274 62523274 - TTTA CEP95 Stop gain H236Lfs*2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 144707 chr15 86273745 86273745 A C rs116261620 AKAP13 Nonsynonymous SNV E984D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 144708 chr14 35522492 35522492 C T rs113488536 FAM177A1 Synonymous SNV N58N 0.003 0.016 0.01 0 3 6 0 3 0 0 0 0 Benign 12.1 144709 chr3 139069133 139069133 C T rs76148008 MRPS22 Nonsynonymous SNV T165I 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.55 144710 chr3 140275372 140275372 G A rs6773764 CLSTN2 Synonymous SNV S564S 0.003 0.003 0.007 0 3 1 0 2 1 0 0 0 14.34 144711 chr3 3888248 3888248 C T rs144138049 LRRN1 Synonymous SNV A641A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 144712 chr15 44865000 44865000 T C rs140824939 SPG11 Nonsynonymous SNV N1962S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 144713 chr13 110839486 110839486 G A rs150866172 COL4A1 Nonsynonymous SNV P576L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25 144714 chr3 43097695 43097695 C T rs201218318 GASK1A Synonymous SNV L515L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 144715 chr15 86123216 86123216 A G rs112396662 AKAP13 Synonymous SNV S639S 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Benign 10.94 144716 chr13 111366562 111366562 C T rs767139432 ING1 Synonymous SNV S22S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.164 144717 chr12 46244487 46244487 A G ARID2 Nonsynonymous SNV I861V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.498 144718 chr15 89015573 89015573 G A rs16941919 MRPS11 Nonsynonymous SNV G96S 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 1.851 144719 chr15 49284453 49284453 C T rs199982398 SECISBP2L Synonymous SNV T1053T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 8.025 144720 chr3 180327444 180327446 CTT - rs577090104 TTC14 S480del 0.002 0 0 0 2 0 0 0 0 0 0 0 144721 chr13 24415546 24415546 T C rs138559130 MIPEP Synonymous SNV R396R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.218 144722 chr13 24868973 24868973 A G rs201424215 SPATA13 Nonsynonymous SNV I294M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 144723 chr3 47053943 47053943 T G rs77757295 NRADDP 0 0 0.027 0 0 0 0 8 0 0 0 0 8.178 144724 chr4 77631358 77631358 G A rs548266561 SHROOM3 Nonsynonymous SNV V125I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 144725 chr14 64669621 64669621 G A SYNE2 Synonymous SNV K6047K 0 0.003 0 0 0 1 0 0 0 0 0 0 12 144726 chr3 4767256 4767256 C A rs201937660 ITPR1 Nonsynonymous SNV N1706K 0 0 0.007 0 0 0 0 2 0 0 0 0 12.26 144727 chr3 48224442 48224442 C T rs142011702 CDC25A Nonsynonymous SNV D136N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 144728 chr16 1550656 1550656 G C TELO2 Nonsynonymous SNV V413L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 144729 chr3 49720698 49720698 G A rs376916831 APEH Nonsynonymous SNV A708T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 144730 chr15 91430535 91430535 C T rs148010744 FES Synonymous SNV H143H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.71 144731 chr3 50137587 50137587 A G RBM5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 144732 chr13 37393806 37393806 C T rs373233313 RFXAP Synonymous SNV S104S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19 144733 chr16 1251977 1251977 G A CACNA1H Synonymous SNV R509R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.136 144734 chr3 53275171 53275171 C A rs371557559 TKT Nonsynonymous SNV D106Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 144735 chr14 77292876 77292876 G A rs761372919 LRRC74A Nonsynonymous SNV R13K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.286 144736 chr16 20966208 20966208 C T rs144756048 DNAH3 Nonsynonymous SNV M3620I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.597 144737 chr16 1398149 1398149 G A rs760432731 BAIAP3 Nonsynonymous SNV V1032I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.4 144738 chr14 81422043 81422043 - TGCA rs773584994 TSHR Frameshift insertion Q8Hfs*55 0 0.003 0 0 0 1 0 0 0 0 0 0 144739 chr3 66431144 66431144 T A rs140085866 LRIG1 Nonsynonymous SNV D971V 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 11.85 144740 chr17 78327831 78327831 G A rs755091431 RNF213 Nonsynonymous SNV D3531N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 144741 chr15 75641251 75641251 C T NEIL1 Nonsynonymous SNV P88L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 144742 chr12 55846489 55846489 C A rs138582074 OR6C2 Synonymous SNV L164L 0.009 0.029 0.007 3 10 11 0.008 2 0 0 0 0 10.97 144743 chr16 24820707 24820707 A T TNRC6A Nonsynonymous SNV N1477I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 144744 chr16 24950877 24950877 C A ARHGAP17 Nonsynonymous SNV G511V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 144745 chr14 91639686 91639686 G A rs374015135 DGLUCY Synonymous SNV T170T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.361 144746 chr16 1634356 1634356 C G rs761080545 IFT140 Synonymous SNV R407R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.39 144747 chr12 56120556 56120558 GTT - rs532343151 CD63 N118del 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 144748 chr12 56428839 56428839 C T rs201817216 IKZF4 Synonymous SNV Y449Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.999 144749 chr3 88184224 88184224 A G rs77487622 ZNF654 Nonsynonymous SNV I190V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 144750 chr17 79212815 79212815 G A TEPSIN Synonymous SNV L7L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.703 144751 chr14 93154586 93154586 A G rs751508121 RIN3 Nonsynonymous SNV N908D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 144752 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 144753 chr12 57114889 57114889 A C rs201913609 NACA Nonsynonymous SNV L142R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.6 144754 chr12 57133082 57133082 T C rs201583406 PRIM1 Nonsynonymous SNV I350V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 144755 chr4 3182293 3182293 C T rs363129 HTT Nonsynonymous SNV T1555I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 144756 chr3 98518237 98518237 A G rs374018219 DCBLD2 Synonymous SNV D769D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 144757 chr16 2029115 2029115 G C NOXO1 Nonsynonymous SNV R356G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.599 144758 chr16 30709491 30709502 AGCGATTCCGAG - LOC730183 A43_Y47delinsD 0.002 0.003 0 0 2 1 0 0 0 0 0 0 144759 chr16 30939228 30939228 C G rs750305215 FBXL19 Nonsynonymous SNV P211A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.15 144760 chr13 99092272 99092272 C T rs141142662 FARP1 Nonsynonymous SNV R831W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 144761 chr14 95903232 95903232 G C SYNE3 Nonsynonymous SNV N816K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.89 144762 chr4 5966771 5966771 C T rs116145862 C4orf50 Nonsynonymous SNV A1240T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 22.8 144763 chr16 20800800 20800800 C T rs368020445 ERI2 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 144764 chr16 2086421 2086421 C T rs139491786 SLC9A3R2 Nonsynonymous SNV R60W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 29.9 144765 chr16 3293880 3293880 A G rs11466045 MEFV Nonsynonymous SNV I591T 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 144766 chr4 100503137 100503137 G A rs777632344 MTTP Nonsynonymous SNV R73Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 144767 chr4 102269830 102269830 T C rs113561582 FLJ20021 0 0 0.014 0 0 0 0 4 0 0 0 0 0.097 144768 chr14 103442124 103442124 C T rs776651351 CDC42BPB Synonymous SNV V468V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.66 144769 chr16 2347468 2347468 G A rs148671332 ABCA3 Nonsynonymous SNV R709W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 144770 chr4 7994648 7994648 G T ABLIM2 Nonsynonymous SNV P243H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25 144771 chr15 90189161 90189161 C T rs149814240 KIF7 Nonsynonymous SNV E629K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.96 144772 chr4 106861763 106861763 G A rs148105888 NPNT Nonsynonymous SNV G245R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.2 144773 chr4 148886185 148886185 C T rs17024215 ARHGAP10 Synonymous SNV S487S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 11 144774 chr18 11881068 11881068 C T GNAL Synonymous SNV R153R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.58 144775 chr4 152583724 152583724 C A FAM160A1 Nonsynonymous SNV P981T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 144776 chr4 111543496 111543496 G A rs143452464 PITX2 Nonsynonymous SNV P41S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.98 144777 chr16 48596037 48596037 T C N4BP1 Nonsynonymous SNV M173V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.086 144778 chr16 50345643 50345643 G A ADCY7 Nonsynonymous SNV M798I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 144779 chr12 76791648 76791648 C T rs781426790 OSBPL8 Synonymous SNV K141K 0.006 0 0 0 7 0 0 0 0 0 0 0 13.43 144780 chr4 17826616 17826616 G A rs368587786 NCAPG Nonsynonymous SNV R470Q 0.003 0 0 0 4 0 0 0 0 0 0 0 24.7 144781 chr16 30441270 30441270 T G rs761452897 DCTPP1 Nonsynonymous SNV D11A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.43 144782 chr16 53691498 53691498 A G rs146565951 RPGRIP1L Nonsynonymous SNV V483A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.11 144783 chr18 2599079 2599079 G T rs150976216 NDC80 Nonsynonymous SNV G428V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 19.64 144784 chr12 83081419 83081419 C T rs143972184 TMTC2 Synonymous SNV T18T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 13.16 144785 chr16 56970692 56970692 C T rs527424441 HERPUD1 Nonsynonymous SNV R131W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 144786 chr4 38776423 38776423 T C TLR10 Synonymous SNV L263L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 144787 chr16 1265318 1265318 G A rs761499667 CACNA1H Nonsynonymous SNV A1700T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 144788 chr16 31426269 31426269 G A rs200483957 ITGAD Nonsynonymous SNV R748H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.93 144789 chr15 41247906 41247906 C T rs753234069 CHAC1 Synonymous SNV I201I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.74 144790 chr4 1348921 1348921 G A UVSSA Nonsynonymous SNV G355E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 144791 chr12 91539849 91539849 C T rs775666283 DCN Nonsynonymous SNV G169R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 34 144792 chr15 41961230 41961230 T C rs376737706 MGA Synonymous SNV D46D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.077 144793 chr4 39458152 39458152 G A rs200276230 RPL9 Nonsynonymous SNV R89C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 144794 chr16 597177 597177 G A CAPN15 Synonymous SNV L113L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.058 144795 chr15 42167727 42167727 G A rs200217235 SPTBN5 Nonsynonymous SNV R1406C 0 0.003 0 0 0 1 0 0 0 0 0 0 3.758 144796 chr4 143130076 143130076 T C rs151027834 INPP4B Nonsynonymous SNV I314V 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 21.3 144797 chr16 1270792 1270792 G A rs751085066 CACNA1H Nonsynonymous SNV S2281N 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.001 144798 chr16 1584303 1584303 G A rs776193501 TMEM204 Synonymous SNV A9A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.11 144799 chr4 41682098 41682098 C T rs756189356 LIMCH1 Nonsynonymous SNV R648C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 144800 chr16 135668 135668 C T rs376825082 MPG Synonymous SNV G258G 0.009 0 0 2 10 0 0.005 0 0 0 0 0 13.64 144801 chr12 96932238 96932238 G A rs180986665 CFAP54 Nonsynonymous SNV R623Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 144802 chr16 66804003 66804003 C T rs144236917 TERB1 Synonymous SNV P494P 0.005 0.005 0 0 6 2 0 0 0 0 0 0 10.16 144803 chr16 67183577 67183577 T A rs746020767 B3GNT9 Nonsynonymous SNV Y271F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25 144804 chr4 44724129 44724129 G A rs141733877 GNPDA2 Synonymous SNV D32D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.714 144805 chr16 67229793 67229793 - CAGCAGCAG rs764449327 E2F4 S319_N320insSSS 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 144806 chr4 47644009 47644009 G A rs201847788 CORIN Nonsynonymous SNV T605I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.748 144807 chr14 23790699 23790699 - GCA PABPN1 A11_G12insA 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 144808 chr18 44773382 44773382 A C SKOR2 Nonsynonymous SNV C725G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.895 144809 chr18 47365673 47365673 G A rs147405294 SNHG22 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.66 144810 chr4 155156598 155156598 G A rs149548848 DCHS2 Nonsynonymous SNV P3069L 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 24.9 144811 chr14 24658754 24658754 G A TM9SF1 Nonsynonymous SNV A476V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.35 144812 chr15 44184197 44184197 C T rs112105930 FRMD5 Nonsynonymous SNV R202K 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 25 144813 chr16 703525 703525 G A WDR90 Nonsynonymous SNV V412I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 144814 chr4 57389933 57389933 G T rs371408202 ARL9 Nonsynonymous SNV R230M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 144815 chr16 1888083 1888083 G A rs556504006 FAHD1 Nonsynonymous SNV E235K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 5.928 144816 chr18 55240496 55240496 A G FECH Nonsynonymous SNV M99T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 144817 chr4 169300618 169300618 G T rs199826168 DDX60L Nonsynonymous SNV A1420E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 144818 chr16 56710055 56710055 G A MT1IP 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.767 144819 chr16 23379258 23379258 G A rs770186069 SCNN1B Synonymous SNV S286S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.27 144820 chr16 735275 735275 G A WDR24 Synonymous SNV D667D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.805 144821 chr4 175898947 175898947 C T rs146283611 ADAM29 Synonymous SNV S757S 0.004 0.005 0.014 4 5 2 0.01 4 0 0 0 0 11.97 144822 chr4 175898967 175898967 C T rs560490313 ADAM29 Nonsynonymous SNV T764I 0.004 0.005 0.014 4 5 2 0.01 4 0 0 0 0 0.207 144823 chr4 175898968 175898968 A G rs200138238 ADAM29 Synonymous SNV T764T 0.004 0.005 0.014 4 5 2 0.01 4 0 0 0 0 0.031 144824 chr4 175898971 175898971 C T rs566589043 ADAM29 Synonymous SNV P765P 0.003 0.005 0.014 4 4 2 0.01 4 0 0 0 0 7.619 144825 chr4 175898983 175898983 A T rs139492823 ADAM29 Nonsynonymous SNV Q769H 0.003 0.005 0.014 3 4 2 0.008 4 0 0 0 0 13.91 144826 chr4 175898988 175898988 G A rs202055137 ADAM29 Nonsynonymous SNV R771Q 0.003 0.005 0.014 4 4 2 0.01 4 0 0 0 0 10.74 144827 chr4 175898990 175898990 G T rs200104149 ADAM29 Nonsynonymous SNV V772L 0.003 0.005 0.014 3 4 2 0.008 4 0 0 0 0 2.741 144828 chr4 175898994 175898994 T C rs113485638 ADAM29 Nonsynonymous SNV M773T 0.003 0.005 0.014 3 4 2 0.008 4 0 0 0 0 0.01 144829 chr4 175899088 175899088 - CAACCTCAGTTGATGCCTTCCCAGAGTCAACCTCCTGTGACGCCCTCCTAGAGC ADAM29 Stop gain R804delinsRQPQLMPSQSQPPVTPSX 0.002 0 0.003 0 2 0 0 1 0 0 0 0 144830 chr4 1824823 1824823 C T rs777331038 LETM1 Synonymous SNV E456E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 144831 chr4 186339896 186339897 AT - rs760594879 UFSP2 H37Rfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 144832 chr5 16676177 16676177 C T rs187007592 MYO10 Synonymous SNV P1543P 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 12.27 144833 chr15 62239409 62239409 G T VPS13C Nonsynonymous SNV A1577E 0 0.003 0 0 0 1 0 0 0 0 0 0 32 144834 chr5 31316431 31316431 G A rs754659106 CDH6 Nonsynonymous SNV D503N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 144835 chr18 675321 675321 C T rs996825186 ENOSF1 Synonymous SNV K381K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 144836 chr16 2835061 2835061 A G rs534239129 PRSS33 Nonsynonymous SNV I209T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.8 144837 chr16 30369362 30369362 C T TBC1D10B Nonsynonymous SNV R777Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 144838 chr18 6985307 6985307 G T rs377710546 LAMA1 Nonsynonymous SNV N1863K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.056 144839 chr13 24868947 24868947 C T rs760457002 SPATA13 Nonsynonymous SNV R286C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 144840 chr4 25026507 25026507 A G rs116581029 LGI2 Synonymous SNV I116I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.499 144841 chr15 66607400 66607400 G A rs149827639 DIS3L Nonsynonymous SNV G155R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 33 144842 chr4 26862963 26862963 G A STIM2 Synonymous SNV A41A 0 0 0.003 0 0 0 0 1 0 0 0 0 11 144843 chr4 2933798 2933798 C T rs775126311 MFSD10 Nonsynonymous SNV R259H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 144844 chr16 30709093 30709093 G A rs916266287 LOC730183 Synonymous SNV I111I 0.003 0 0 0 4 0 0 0 0 0 0 0 7.322 144845 chr18 74620369 74620369 A G rs377422426 ZNF236 Synonymous SNV Q797Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 144846 chr13 32899249 32899249 G A rs80358603 BRCA2 Nonsynonymous SNV R118H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.209 144847 chr16 84473043 84473043 C T ATP2C2 Synonymous SNV S223S 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 11.97 144848 chr4 90833193 90833193 A G rs142654621 MMRN1 Nonsynonymous SNV Q281R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.71 144849 chr15 72037526 72037526 A T rs750664222 THSD4 Nonsynonymous SNV K303M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.8 144850 chr5 43539081 43539081 C T rs922298642 PAIP1 Nonsynonymous SNV R264Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 144851 chr16 847744 847744 G A rs199880493 CHTF18 Synonymous SNV P928P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.905 144852 chr15 73044761 73044761 T C ADPGK Nonsynonymous SNV D333G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 144853 chr13 39438633 39438633 C A rs115492820 FREM2 Nonsynonymous SNV R2625S 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Uncertain significance 26.3 144854 chr14 64596823 64596823 C A rs75568433 SYNE2 Nonsynonymous SNV P4733T 0.003 0.005 0.007 4 4 2 0.01 2 0 0 0 1 Benign 24.2 144855 chr16 3646269 3646269 C T rs565202250 SLX4 Synonymous SNV S603S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Likely benign 11.99 144856 chr15 75643694 75643694 G A rs760526659 NEIL1 Nonsynonymous SNV C51Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.581 144857 chr4 38879720 38879720 C T rs116238589 FAM114A1 Synonymous SNV D7D 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 13.19 144858 chr4 38907156 38907156 G A rs7698138 FAM114A1 Synonymous SNV T23T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 14.45 144859 chr4 38907405 38907405 G A rs139238894 FAM114A1 Nonsynonymous SNV A67T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 144860 chr4 39000476 39000476 A T rs146524602 TMEM156 Nonsynonymous SNV Y48N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 144861 chr5 56777915 56777915 C T rs146468598 ACTBL2 Nonsynonymous SNV R207Q 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 23.7 144862 chr5 57751530 57751530 C T rs536706040 PLK2 Synonymous SNV P487P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.19 144863 chr4 39105088 39105088 T G rs755872454 KLHL5 Synonymous SNV T479T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 144864 chr4 109088763 109088763 T A LEF1 Nonsynonymous SNV K54M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 144865 chr13 46559808 46559808 A T rs368245456 ZC3H13 Nonsynonymous SNV D448E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.29 144866 chr14 73718777 73718777 C A rs376998689 PAPLN Nonsynonymous SNV L299M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.1 144867 chr4 47427873 47427873 C G rs41311286 GABRB1 Nonsynonymous SNV H421Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 10.66 144868 chr16 5094460 5094460 G A rs371006979 C16orf89 Synonymous SNV N325N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.81 144869 chr13 52548589 52548589 A T ATP7B Nonsynonymous SNV V256E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.968 144870 chr4 118006190 118006190 G T rs370224857 TRAM1L1 Nonsynonymous SNV N120K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.3 144871 chr15 83926348 83926348 C T rs377276556 BNC1 Nonsynonymous SNV R937K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 144872 chr16 50338367 50338367 G A rs74495137 ADCY7 Nonsynonymous SNV E489K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 144873 chr4 54852806 54852806 C T rs149809236 RPL21P44 0 0 0.007 0 0 0 0 2 0 0 1 0 3.065 144874 chr15 85164977 85164977 C G rs151001508 ZSCAN2 Synonymous SNV L517L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.4 144875 chr16 56534783 56534783 G A rs141046144 BBS2 Synonymous SNV F460F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.21 144876 chr4 122591118 122591118 A G rs150126476 ANXA5 Synonymous SNV Y257Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 5.799 144877 chr15 86122807 86122807 G A rs370099086 AKAP13 Nonsynonymous SNV S503N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.8 144878 chr14 77275977 77275980 AAGA - ANGEL1 F24Sfs*17 0.001 0 0 1 1 0 0.003 0 0 0 0 0 144879 chr16 57717890 57717890 G A rs370257316 ADGRG3 Nonsynonymous SNV V190M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.7 144880 chr15 86201776 86201776 G A rs181593659 AKAP13 Nonsynonymous SNV R1585Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.31 144881 chr15 86273826 86273826 C T rs374819189 AKAP13 Synonymous SNV S1011S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.06 144882 chr14 100070277 100070277 G A rs925197448 CCDC85C Nonsynonymous SNV T7M 0.002 0.008 0 0 2 3 0 0 0 1 0 0 8.594 144883 chr16 88500034 88500034 C T rs1011508098 ZNF469 Synonymous SNV A2052A 0.004 0 0 0 5 0 0 0 0 0 0 0 15.27 144884 chr19 13249098 13249098 G A rs150928114 NACC1 Nonsynonymous SNV A488T 0.009 0.016 0.003 5 11 6 0.013 1 0 0 0 0 Benign 2.527 144885 chr16 614913 614913 G A PRR35 Nonsynonymous SNV G441D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.5 144886 chr4 149075885 149075885 A G rs369389025 NR3C2 Nonsynonymous SNV S728P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.51 144887 chr14 88938683 88938683 G A PTPN21 Stop gain R926X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 144888 chr16 69355047 69355047 G A rs768485456 VPS4A Synonymous SNV T315T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 144889 chr4 73012745 73012745 C T rs201155248 NPFFR2 Nonsynonymous SNV A262V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.4 144890 chr16 67040335 67040335 G A rs3848290 CES4A Nonsynonymous SNV A355T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 5.953 144891 chr16 67100644 67100644 T G CBFB Nonsynonymous SNV I75M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 144892 chr4 77003212 77003212 T C rs72869116 ART3 Nonsynonymous SNV I102T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.097 144893 chr4 77134649 77134649 C G rs72857097 SCARB2 Synonymous SNV L16L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.5 144894 chr19 15197916 15197916 C T rs150908636 OR1I1 Nonsynonymous SNV L14F 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 12.85 144895 chr4 77288833 77288833 C T rs17001824 CCDC158 Nonsynonymous SNV E482K 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 144896 chr14 105353184 105353184 A G rs758289297 CEP170B Nonsynonymous SNV T800A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 144897 chr16 89629295 89629295 T C rs752927819 RPL13 Nonsynonymous SNV Y161H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.24 144898 chr16 89986252 89986252 T C rs3212366 MC1R Nonsynonymous SNV F196L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.2 144899 chr4 79443826 79443826 A G FRAS1 Nonsynonymous SNV T3558A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 144900 chr4 169083757 169083757 C T rs114905136 ANXA10 Synonymous SNV L92L 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 8.487 144901 chr4 80247008 80247008 T C rs777942222 NAA11 Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 144902 chr16 70509371 70509371 T C FCSK Synonymous SNV S832S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.046 144903 chr17 10400466 10400466 G A rs141906658 MYH1 Nonsynonymous SNV R1526C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 144904 chr4 81123481 81123481 - GCGGCG PRDM8 G294_H295insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 144905 chr16 705778 705778 G A rs755668024 WDR90 Nonsynonymous SNV G619S 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 144906 chr4 8228799 8228799 C T rs376828824 SH3TC1 Nonsynonymous SNV P384S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 144907 chr15 100252715 100252715 - CAGCAG MEF2A Q352_P353insQQ 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 144908 chr15 100514757 100514757 G A rs112214202 ADAMTS17 Synonymous SNV T1046T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 8.45 144909 chr5 115815832 115815832 C T rs188058558 SEMA6A Synonymous SNV L412L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 15.7 144910 chr4 88104538 88104538 G A rs768636180 KLHL8 Nonsynonymous SNV R74C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 144911 chr15 30058502 30058502 T C rs764975019 TJP1 Nonsynonymous SNV K186E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 144912 chr4 187518138 187518138 C T rs200322175 FAT1 Nonsynonymous SNV V4186I 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 0.001 144913 chr4 94137919 94137919 G A GRID2 Nonsynonymous SNV V179I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 144914 chr16 18847261 18847261 T C rs200954419 SMG1 Nonsynonymous SNV Y2684C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.2 144915 chr16 1904103 1904103 T G MEIOB Synonymous SNV T209T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.172 144916 chr16 19126191 19126191 C T rs772529305 ITPRIPL2 Synonymous SNV A136A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.63 144917 chr17 18051414 18051414 G A rs375638438 MYO15A Nonsynonymous SNV R2194Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 144918 chr16 85699661 85699661 C T rs773990778 GSE1 Synonymous SNV A842A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.36 144919 chr15 40504707 40504707 C T BUB1B Nonsynonymous SNV S798F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.71 144920 chr5 10290761 10290761 G A rs146175625 CMBL Synonymous SNV P38P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.88 144921 chr5 1057736 1057736 G A rs199620140 SLC12A7 Nonsynonymous SNV A959V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.4 144922 chr5 108233487 108233487 G T rs146594490 FER Nonsynonymous SNV D217Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 144923 chr17 3195599 3195599 C T rs61736316 OR3A1 Nonsynonymous SNV R93H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.002 144924 chr16 87723733 87723733 G A rs538000829 JPH3 Synonymous SNV R589R 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Likely benign 0.177 144925 chr16 2137925 2137958 CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG - rs137854209 TSC2 S1440_D1446delinsY 0.002 0.008 0 0 2 3 0 0 0 0 0 0 144926 chr16 2198930 2198930 G A rs766917133 RAB26 Nonsynonymous SNV G49D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.32 144927 chr17 33321313 33321313 G A rs142785435 LIG3 Nonsynonymous SNV V492I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.88 144928 chr19 20728087 20728170 TATGAATTATCTTATGCGCAGTAAGGATAGAGGAGCGCTTAAAGGCCTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAG - ZNF737 T280_H307del 0 0.003 0 0 0 1 0 0 0 0 0 0 144929 chr5 111531387 111531387 A T rs149373122 EPB41L4A Synonymous SNV G465G 0.008 0 0.01 2 9 0 0.005 3 0 0 0 0 Benign 0.694 144930 chr5 112179153 112179153 C G rs72541816 APC Nonsynonymous SNV S2603C 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 144931 chr16 22268971 22268971 C T rs778926415 EEF2K Synonymous SNV R303R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.36 144932 chr5 6645364 6645364 C T rs533800458 SRD5A1 Nonsynonymous SNV R6C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.635 144933 chr16 23080653 23080653 G C rs141634001 USP31 Nonsynonymous SNV P925A 0 0.013 0 1 0 5 0.003 0 0 0 0 0 0.022 144934 chr16 84494260 84494260 C T ATP2C2 Synonymous SNV S627S 0.003 0.005 0 4 3 2 0.01 0 0 0 0 1 8.284 144935 chr19 23544485 23544485 T C rs776686328 ZNF91 Synonymous SNV K400K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.099 144936 chr19 23544681 23544764 TTAGCAAGGGTTGAGGAATTGCTAAAAGCTTTGCCACATTCTTTACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTATGT - ZNF91 K307_A334del 0 0.003 0 0 0 1 0 0 0 0 0 0 144937 chr5 141041803 141041803 T G ARAP3 Synonymous SNV V940V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.73 144938 chr14 37892145 37892145 T C MIPOL1 Nonsynonymous SNV V341A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 144939 chr19 3110214 3110214 G A rs369699960 GNA11 Synonymous SNV S68S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 144940 chr5 131923673 131923673 G T rs28903090 RAD50 Nonsynonymous SNV V315L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 144941 chr14 45686268 45686268 T A rs139950206 MIS18BP1 Nonsynonymous SNV H986L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.8 144942 chr16 88504686 88504686 G A rs537930010 ZNF469 Nonsynonymous SNV R3603Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.729 144943 chr5 133478692 133478692 G A rs147328491 TCF7 Synonymous SNV A169A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.824 144944 chr5 135587339 135587339 T C rs201280628 TRPC7 Nonsynonymous SNV Y410C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 144945 chr17 3301258 3301258 C T rs145403333 OR1E1 Stop gain W149X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 144946 chr15 51687162 51687162 C T rs751133819 GLDN Synonymous SNV N100N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.62 144947 chr17 10419533 10419533 C T rs769682510 MYH1 Nonsynonymous SNV A111T 0.003 0 0 0 3 0 0 0 0 0 0 0 23 144948 chr16 88893178 88893178 C T rs374619390 GALNS Synonymous SNV P172P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.396 144949 chr15 51973995 51973995 C T SCG3 Nonsynonymous SNV L15F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.59 144950 chr16 3434491 3434491 A G rs145877569 ZSCAN32 Nonsynonymous SNV L112P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.036 144951 chr17 11556248 11556248 C T rs16945138 DNAH9 Nonsynonymous SNV R842W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 144952 chr17 11572727 11572727 G A rs61745415 DNAH9 Nonsynonymous SNV R990H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 1.09 144953 chr17 11593457 11593457 C T rs61742881 DNAH9 Synonymous SNV L1440L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.909 144954 chr17 11593626 11593626 C T rs370051517 DNAH9 Nonsynonymous SNV S1496L 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 144955 chr17 11597719 11597719 C G rs61747389 DNAH9 Synonymous SNV S1609S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.597 144956 chr5 139943231 139943231 G A APBB3 Nonsynonymous SNV R80W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 144957 chr17 11790161 11790161 C A rs138874996 DNAH9 Nonsynonymous SNV T3664N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 144958 chr5 52337983 52337983 G A rs143262642 ITGA2 Nonsynonymous SNV R76Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 34 144959 chr19 36530272 36530272 G - rs552924745 THAP8 H166Tfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 144960 chr15 57731513 57731513 G A rs189508357 CGNL1 Nonsynonymous SNV S439N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.046 144961 chr16 4790353 4790353 A G C16orf71 Nonsynonymous SNV K159R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 144962 chr17 36508662 36508662 - AGC rs547838143 SOCS7 Q251_P252insQ 0.019 0.018 0.024 7 22 7 0.018 7 0 0 0 0 144963 chr17 16332214 16332214 C T rs756373391 TRPV2 Nonsynonymous SNV A502V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 144964 chr17 16347250 16347250 C T rs149167603 LRRC75A Nonsynonymous SNV A191T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.02 144965 chr16 4924352 4924352 C T UBN1 Synonymous SNV G647G 0 0.005 0 0 0 2 0 0 0 0 0 0 8.659 144966 chr17 11597663 11597663 G T rs778956653 DNAH9 Nonsynonymous SNV A1591S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.08 144967 chr16 4933443 4933443 T C rs117337133 PPL Nonsynonymous SNV Y1738C 0 0.005 0 0 0 2 0 0 0 0 0 0 25.1 144968 chr17 11597664 11597664 C T rs750353340 DNAH9 Nonsynonymous SNV A1591V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 144969 chr5 140745103 140745103 T C rs73792170 PCDHGA5 Synonymous SNV Y402Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 144970 chr5 60628405 60628405 G T rs772018109 ZSWIM6 Synonymous SNV P102P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.211 144971 chr16 5083884 5083884 A T rs985903141 NAGPA Nonsynonymous SNV L11H 0 0.005 0 0 0 2 0 0 0 0 0 0 16.66 144972 chr16 53515585 53515585 G A rs370255143 RBL2 Nonsynonymous SNV M1005I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.37 144973 chr5 140806482 140806482 G A rs143411146 PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.165 144974 chr5 140806676 140806676 C A rs141512367 PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.544 144975 chr17 38907472 38907472 - TGTTGTTCAGCAGA rs759221593 KRT25 Stop gain Y259Ffs*3 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 144976 chr17 38907474 38907474 - AACATGTTGT rs764406317 KRT25 Frameshift insertion Y259Qfs*32 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 144977 chr5 140953563 140953563 - GGAGGAGGAGGAGGA DIAPH1 P611_L612insPPPPP 0.001 0 0.003 0 1 0 0 1 0 0 0 0 144978 chr15 65426037 65426037 G A rs944407228 PDCD7 Nonsynonymous SNV P28L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 17.26 144979 chr17 18071032 18071032 G A rs367627564 MYO15A Synonymous SNV P3359P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.79 144980 chr17 16472480 16472480 G A rs935465922 ZNF287 Synonymous SNV A15A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.415 144981 chr19 38945883 38945883 C T RYR1 Synonymous SNV L483L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.5 144982 chr17 19247061 19247061 C - rs772723401 B9D1 R191Sfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 144983 chr19 39439208 39439208 C T rs138578344 FBXO17 Nonsynonymous SNV E154K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 144984 chr15 68599690 68599690 C T rs761739603 ITGA11 Nonsynonymous SNV R1126H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 144985 chr17 41006541 41006541 G T AOC3 Synonymous SNV L559L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.404 144986 chr14 69992708 69992708 C T rs761396932 PLEKHD1 Synonymous SNV N264N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 144987 chr14 69993433 69993433 C A PLEKHD1 Nonsynonymous SNV R315S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 144988 chr17 39389018 39389018 A C rs200402106 KRTAP9-3 Nonsynonymous SNV S89R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.49 144989 chr5 147498551 147498551 A G rs181639116 SPINK5 Nonsynonymous SNV E748G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.33 144990 chr14 72090863 72090863 C T rs138601908 SIPA1L1 Synonymous SNV H576H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.08 144991 chr14 72090941 72090941 G C rs149305492 SIPA1L1 Synonymous SNV L602L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.405 144992 chr14 72128137 72128137 C T rs146671503 SIPA1L1 Synonymous SNV F736F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.36 144993 chr14 72138139 72138139 C T rs147603233 SIPA1L1 Synonymous SNV L853L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.537 144994 chr14 72138184 72138184 C T rs45568931 SIPA1L1 Synonymous SNV Y868Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.071 144995 chr14 72138367 72138367 T A rs145632611 SIPA1L1 Nonsynonymous SNV F929L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.012 144996 chr17 19285392 19285392 G A rs2233079 MAPK7 Synonymous SNV A453A 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 0.088 144997 chr17 19480643 19480643 G T rs35395280 SLC47A1 Nonsynonymous SNV C497F 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Benign 0.442 144998 chr5 176721869 176721869 G C rs770120153 NSD1 Nonsynonymous SNV M2500I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 144999 chr17 19642885 19642885 G A rs141508989 ALDH3A1 Nonsynonymous SNV A351V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 145000 chr17 42335916 42335916 T A rs761116611 SLC4A1 Nonsynonymous SNV S318C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 145001 chr17 19646681 19646681 G A rs61279095 ALDH3A1 Synonymous SNV P86P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 11.13 145002 chr17 2076087 2076087 A G rs149619914 SMG6 Synonymous SNV S166S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.135 145003 chr5 177546645 177546645 C T rs552018216 N4BP3 Nonsynonymous SNV R21W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 145004 chr16 67702329 67702329 C T rs200136818 C16orf86 Synonymous SNV T260T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.904 145005 chr17 43240137 43240137 C G HEXIM2 Nonsynonymous SNV L15V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.528 145006 chr16 68853227 68853227 C T rs730881667 CDH1 Nonsynonymous SNV P476L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 33 145007 chr15 79185959 79185959 A G rs145106867 MORF4L1 Nonsynonymous SNV T119A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.82 145008 chr16 69481071 69481071 G C rs201614686 CYB5B Nonsynonymous SNV V65L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 145009 chr5 179193270 179193270 C T rs141578236 MAML1 Nonsynonymous SNV P420L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.34 145010 chr17 40821975 40821975 C - rs770453788 PLEKHH3 F659Sfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 145011 chr19 42879700 42879700 C T rs375011847 MEGF8 Synonymous SNV G2370G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.43 145012 chr15 83826249 83826249 C T rs542804499 HDGFL3 Nonsynonymous SNV G126D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 145013 chr5 156895736 156895736 C A rs199422217 NIPAL4 Nonsynonymous SNV A157D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Pathogenic 29.4 145014 chr16 71885194 71885194 A G rs374650795 ATXN1L Synonymous SNV Q517Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.085 145015 chr5 162896779 162896779 A G rs201404287 HMMR Nonsynonymous SNV T49A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 145016 chr16 75298250 75298250 G C rs190284836 BCAR1 Nonsynonymous SNV P50R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.503 145017 chr6 6152062 6152062 T C rs371964182 F13A1 Nonsynonymous SNV M677V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 8.09 145018 chr17 28407861 28407861 G A rs147629201 EFCAB5 Synonymous SNV K1096K 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 2.635 145019 chr19 44536711 44536711 T C rs778795148 ZNF222 Nonsynonymous SNV I335T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 145020 chr17 28417576 28417576 G C rs35724168 EFCAB5 Nonsynonymous SNV R1274T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 21.4 145021 chr17 28539837 28539837 C T rs201149719 SLC6A4 Synonymous SNV S375S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 19.66 145022 chr14 93412739 93412739 T C rs768017814 ITPK1 Nonsynonymous SNV I161V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 145023 chr17 29221584 29221584 A G rs114345202 ATAD5 Nonsynonymous SNV N1767S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.023 145024 chr17 29679401 29679401 A G rs55865524 NF1 Synonymous SNV Q2507Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 15.3 145025 chr16 78458864 78458864 G T WWOX Nonsynonymous SNV G122W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 145026 chr5 112770465 112770465 T C rs771897050 TSSK1B Synonymous SNV A24A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 145027 chr5 171520449 171520449 C T rs201939003 STK10 Synonymous SNV S507S 0 0 0.003 0 0 0 0 1 0 0 0 0 17 145028 chr17 31323899 31323899 G A rs35420663 SPACA3 Nonsynonymous SNV A25T 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign 5.84 145029 chr15 89401085 89401085 G A rs202054679 ACAN Nonsynonymous SNV G1757R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.4 145030 chr19 44981991 44981991 T C rs779398573 ZNF180 Nonsynonymous SNV H211R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.536 145031 chr16 815752 815752 G A rs781390078 MSLN Nonsynonymous SNV R286Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.166 145032 chr15 89866676 89866676 C T rs147827654 POLG Nonsynonymous SNV V742M 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 34 145033 chr14 99866565 99866565 G A rs148682029 SETD3 Synonymous SNV S403S 0.003 0.008 0 0 3 3 0 0 0 1 0 0 13.23 145034 chr17 4726047 4726047 C A rs757236839 PLD2 Nonsynonymous SNV T886N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.05 145035 chr5 178040534 178040534 G A CLK4 Synonymous SNV L256L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 145036 chr5 178421487 178421487 G A GRM6 Synonymous SNV A153A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 145037 chr16 84872174 84872174 C T CRISPLD2 Synonymous SNV L25L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.48 145038 chr17 37864705 37864705 T C rs747047846 ERBB2 Synonymous SNV N119N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.147 145039 chr16 85712260 85712260 G A rs747349450 GINS2 Synonymous SNV N106N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.39 145040 chr16 85948095 85948095 G A rs757320154 IRF8 Synonymous SNV T200T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.11 145041 chr5 132149378 132149378 T C SOWAHA Nonsynonymous SNV F22S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 145042 chr17 3840797 3840797 G T rs140980200 ATP2A3 Nonsynonymous SNV A745D 0.008 0.005 0 0 9 2 0 0 0 0 0 0 23.8 145043 chr17 56833457 56833457 - GAACCCGAACCC PPM1E E44_S45insPEPE 0.003 0.005 0 0 4 2 0 0 0 0 0 0 145044 chr16 11001821 11001821 C T rs45621432 CIITA Synonymous SNV H824H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 9.593 145045 chr16 11137890 11137890 G A rs74163618 CLEC16A Synonymous SNV A574A 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 10.11 145046 chr17 54428313 54428313 C A ANKFN1 Synonymous SNV L128L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 145047 chr15 33822838 33822838 G A rs749217320 RYR3 Nonsynonymous SNV V109I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.54 145048 chr5 139884510 139884510 T A ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV S1037T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 145049 chr16 11931881 11931881 T C rs149735121 RSL1D1 Synonymous SNV A412A 0.004 0.01 0.003 3 5 4 0.008 1 0 0 0 0 0.779 145050 chr5 139937019 139937019 - A SRA1 Stop gain K19* 0.001 0 0 0 1 0 0 0 0 0 0 0 145051 chr15 34640687 34640687 T C rs147738733 NUTM1 Synonymous SNV A196A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.097 145052 chr5 34945004 34945004 G A rs142389949 DNAJC21 Nonsynonymous SNV R339Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 28.7 145053 chr15 40093728 40093728 C T rs371135047 GPR176 Nonsynonymous SNV E340K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.2 145054 chr17 61613418 61613418 T C KCNH6 Nonsynonymous SNV M497T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 145055 chr16 1268360 1268360 A T CACNA1H Nonsynonymous SNV S1860C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 145056 chr17 3937322 3937322 C T ZZEF1 Nonsynonymous SNV V2191M 0.008 0.005 0 0 9 2 0 0 0 0 0 0 26.3 145057 chr16 89167447 89167447 G A rs200703917 ACSF3 Nonsynonymous SNV G120S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 145058 chr16 1397955 1397955 G A rs148005520 BAIAP3 Nonsynonymous SNV R993H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 145059 chr17 57992034 57992034 G A rs56010534 RPS6KB1 Synonymous SNV G117G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.05 145060 chr5 37227151 37227151 C T rs772553650 CPLANE1 Nonsynonymous SNV E516K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 145061 chr15 40659713 40659713 C T rs35004278 DISP2 Nonsynonymous SNV T467I 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 145062 chr17 5984119 5984119 G T rs753420039 WSCD1 Synonymous SNV R47R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.006 145063 chr16 89357536 89357536 G C rs139469151 ANKRD11 Synonymous SNV A94A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.74 145064 chr16 89971416 89971416 G A rs149095808 TCF25 Nonsynonymous SNV A514T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.569 145065 chr5 53814336 53814336 C T rs773556595 SNX18 Nonsynonymous SNV A185V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 145066 chr16 1825089 1825089 C T rs141742764 EME2 Synonymous SNV T175T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.26 145067 chr15 42442838 42442838 C T rs150638887 PLA2G4F Nonsynonymous SNV V247M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.6 145068 chr19 50338993 50338993 C T rs752175666 MED25 Nonsynonymous SNV R586C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 145069 chr17 68128925 68128925 A G rs151272014 KCNJ16 Nonsynonymous SNV M268V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.01 145070 chr5 54826432 54826432 C A rs35984984 RNF138P1 0 0 0.01 0 0 0 0 3 0 0 0 0 16.32 145071 chr17 40945642 40945642 A G WNK4 Synonymous SNV R394R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 145072 chr5 56155618 56155618 A G rs55694258 MAP3K1 Nonsynonymous SNV Q237R 0.007 0.016 0.01 2 8 6 0.005 3 0 1 0 0 Benign/Likely benign 7.741 145073 chr17 41244964 41244964 T C rs80356927 BRCA1 Nonsynonymous SNV K815E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.1 145074 chr17 1400080 1400080 A G rs566663933 INPP5K Synonymous SNV S327S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.116 145075 chr5 60628708 60628708 G C ZSWIM6 Synonymous SNV T203T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.627 145076 chr15 44673112 44673112 A G rs192060882 CASC4 Nonsynonymous SNV Q337R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 145077 chr17 16843774 16843774 G A TNFRSF13B Nonsynonymous SNV T166M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 145078 chr19 5144276 5144276 C T rs76966152 KDM4B Synonymous SNV A918A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.6 145079 chr16 20793068 20793072 ACCAA - ACSM3 P327Cfs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 145080 chr16 20793073 20793073 C T ACSM3 Nonsynonymous SNV T328I 0 0 0 1 0 0 0.003 0 0 0 0 0 23 145081 chr15 45694653 45694653 C T rs148815842 SPATA5L1 Nonsynonymous SNV P9L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.39 145082 chr17 17120475 17120475 G A rs557336321 FLCN Nonsynonymous SNV R362C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 145083 chr16 22159556 22159556 C - VWA3A Y973Tfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 145084 chr5 72469238 72469238 C T rs376179293 TMEM174 Synonymous SNV V56V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 145085 chr17 43111558 43111558 G A rs117298907 DCAKD Nonsynonymous SNV R105W 0.009 0.005 0.01 4 10 2 0.01 3 0 0 0 0 34 145086 chr19 51871157 51871157 G A rs74538792 CLDND2 Nonsynonymous SNV A98V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 145087 chr17 45479519 45479519 A C rs372026703 EFCAB13 Nonsynonymous SNV E560A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 145088 chr17 4641742 4641742 G C rs149830899 CXCL16 Nonsynonymous SNV P107A 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.001 145089 chr16 27517300 27517300 C T rs747243597 GTF3C1 Nonsynonymous SNV V564M 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 4.55 145090 chr5 153377378 153377378 G A rs745513855 FAM114A2 Synonymous SNV C368C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.771 145091 chr16 28549403 28549403 G A rs985021456 NUPR1 Synonymous SNV H80H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.08 145092 chr17 47489162 47489162 C T rs2233665 PHB Nonsynonymous SNV R43H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 145093 chr17 48185986 48185986 G A rs148586321 PDK2 Nonsynonymous SNV R227Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 145094 chr5 79797690 79797690 G A rs149355931 FAM151B Stop gain W35X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 145095 chr17 73915891 73915891 C G rs189301608 FBF1 Nonsynonymous SNV E666Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.4 145096 chr17 48470178 48470178 G A rs757895023 LRRC59 Synonymous SNV G82G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 145097 chr16 30536061 30536061 T C rs138667105 ZNF768 Nonsynonymous SNV N467S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.03 145098 chr17 74080637 74080637 G C rs377209076 EXOC7 Nonsynonymous SNV I548M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 145099 chr5 167946124 167946124 T A rs138664961 RARS1 Nonsynonymous SNV C638S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 145100 chr5 168135127 168135127 C T rs764469403 SLIT3 0.002 0 0 0 2 0 0 0 0 0 0 0 11.71 145101 chr17 74278111 74278111 T C rs146010781 QRICH2 Nonsynonymous SNV H1200R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 145102 chr17 48631634 48631634 C T rs191570757 SPATA20 Synonymous SNV S644S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 145103 chr17 48940771 48940771 C T rs758644657 TOB1 Nonsynonymous SNV R64H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 145104 chr5 172659906 172659908 GGC - rs777981117 NKX2-5 P214del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 145105 chr17 76121844 76121844 G A rs143883680 TMC6 Synonymous SNV Y131Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.312 145106 chr6 88125491 88125493 AAG - rs770991774 CFAP206 E126del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 145107 chr5 176072210 176072210 G A rs115365515 EIF4E1B Nonsynonymous SNV R147H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.6 145108 chr15 65394621 65394621 G C UBAP1L Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.313 145109 chr17 26856136 26856136 C T rs140921495 FOXN1 Nonsynonymous SNV P242S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 19.54 145110 chr17 48913390 48913390 G A rs55700534 WFIKKN2 Nonsynonymous SNV R31Q 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 Benign 0.055 145111 chr17 27086396 27086396 T A rs564764437 FAM222B Nonsynonymous SNV Q194L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.03 145112 chr19 54140124 54140124 G T DPRX Nonsynonymous SNV G153V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 145113 chr17 76455083 76455083 G A rs140856549 DNAH17 Synonymous SNV A3287A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 145114 chr6 90572137 90572137 G C rs368353175 CASP8AP2 Nonsynonymous SNV G237R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.35 145115 chr16 3656527 3656527 C T rs765742613 SLX4 Synonymous SNV A236A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.41 145116 chr15 66586448 66586448 C T rs573322189 DIS3L Synonymous SNV S8S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.21 145117 chr15 66615250 66615250 A G rs34668776 DIS3L Nonsynonymous SNV I392V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.038 145118 chr15 66782908 66782908 C T rs150841154 MAP2K1 Synonymous SNV I379I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.04 145119 chr6 106967554 106967554 A G rs141046906 CRYBG1 Nonsynonymous SNV K416R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 145120 chr17 56603618 56603618 G A rs199986692 SEPTIN4 Synonymous SNV S39S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 145121 chr6 106991410 106991410 G C rs138751164 CRYBG1 Nonsynonymous SNV E1251D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 145122 chr17 56621337 56621337 C T rs200694148 SEPTIN4 Nonsynonymous SNV V71I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.331 145123 chr17 56699043 56699043 G A rs200034027 TEX14 Synonymous SNV Y174Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.14 145124 chr17 78032677 78032677 C T rs61734950 CCDC40 Synonymous SNV L446L 0.004 0.01 0.007 0 5 4 0 2 0 0 0 0 Benign/Likely benign 8.524 145125 chr17 59560453 59560453 C G rs140662248 TBX4 Nonsynonymous SNV S405C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 25.8 145126 chr6 109884798 109884798 - CCTCTT rs538809060 AK9 0 0 0.003 1 0 0 0.003 1 0 0 0 0 145127 chr17 78063984 78064015 AACACGGGACGCACGCAGGCACGTGCACGAAG - CCDC40 H964Rfs*119 0 0.008 0 1 0 3 0.003 0 0 0 0 0 145128 chr17 59937223 59937223 G C rs28903098 BRIP1 Nonsynonymous SNV P47A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 145129 chr17 78069129 78069129 G T rs61686936 CCDC40 Nonsynonymous SNV R967L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.1 145130 chr17 78083769 78083769 C G rs7215458 GAA Nonsynonymous SNV P451R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.5 145131 chr5 179302136 179302136 G A TBC1D9B Nonsynonymous SNV P651L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 145132 chr17 78180840 78180840 C T rs150378107 CARD14 Synonymous SNV I921I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.4 145133 chr17 78181958 78181958 C T rs200640336 CARD14 Synonymous SNV G943G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.51 145134 chr17 78187673 78187673 G A rs34520362 SGSH Synonymous SNV F225F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.56 145135 chr15 75113505 75113505 G A rs372870036 LMAN1L Nonsynonymous SNV A333T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 145136 chr17 78188509 78188509 C T rs142557761 SGSH Synonymous SNV A137A 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.95 145137 chr5 180582660 180582660 G A OR2V2 Nonsynonymous SNV A240T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.056 145138 chr16 54319927 54319927 G C IRX3 Synonymous SNV R12R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.335 145139 chr6 117591908 117591908 C T rs752956500 VGLL2 Synonymous SNV H198H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 145140 chr17 78319610 78319610 C T rs200099417 RNF213 Nonsynonymous SNV T2492M 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 26.5 145141 chr17 79096619 79096619 C G rs778715757 AATK Nonsynonymous SNV E270Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 31 145142 chr17 79073844 79073844 C T rs752620110 BAIAP2 Synonymous SNV C202C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 15.86 145143 chr17 3850811 3850811 C T rs774106429 ATP2A3 Synonymous SNV T323T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 145144 chr17 66891131 66891131 G C rs140095797 ABCA8 Nonsynonymous SNV Q890E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.618 145145 chr6 134210976 134210976 G T rs78733835 TCF21 Synonymous SNV P147P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 15.05 145146 chr6 134436451 134436451 G T rs117754643 HMGA1P7 0 0 0.003 0 0 0 0 1 0 0 0 0 0.684 145147 chr17 80400098 80400098 C T rs116902484 HEXD Nonsynonymous SNV P463L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 22.9 145148 chr17 7133189 7133189 G A rs756465071 DVL2 Synonymous SNV L198L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.381 145149 chr16 67412588 67412588 G A rs139328142 LRRC36 Nonsynonymous SNV V514M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.14 145150 chr17 68171301 68171301 C A KCNJ2 Nonsynonymous SNV Q41K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.83 145151 chr16 67693916 67693916 G A rs138527794 ACD Synonymous SNV G44G 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign 4.271 145152 chr6 135306521 135306521 T C rs73774527 HBS1L Nonsynonymous SNV I442V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.396 145153 chr6 135371727 135371727 C G rs35916433 HBS1L Synonymous SNV P34P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 16.13 145154 chr15 89169581 89169581 G T AEN Synonymous SNV L47L 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 10.06 145155 chr17 71197731 71197731 C G rs769998938 COG1 Nonsynonymous SNV L589V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 145156 chr17 72344037 72344037 G C rs756119895 KIF19 Nonsynonymous SNV R349T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 145157 chr17 8166947 8166947 G A rs376586843 PFAS Nonsynonymous SNV R541H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 145158 chr6 147525628 147525628 G T rs551986141 STXBP5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.745 145159 chr18 13008497 13008497 G C rs149216711 CEP192 Nonsynonymous SNV L111F 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 15.76 145160 chr17 8296310 8296310 A G RNF222 Nonsynonymous SNV M157T 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 14.58 145161 chr18 13100326 13100326 G A rs74340616 CEP192 Nonsynonymous SNV R2229Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.4 145162 chr17 959338 959338 G T ABR Nonsynonymous SNV P282T 0.002 0 0 0 2 0 0 0 0 0 0 0 24 145163 chr19 58863052 58863052 A G A1BG Synonymous SNV A205A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.262 145164 chr6 151151744 151151744 G A rs144321933 PLEKHG1 Synonymous SNV Q460Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.304 145165 chr6 151152690 151152690 T C PLEKHG1 Nonsynonymous SNV S776P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 145166 chr18 10666881 10666881 G T LOC101927410 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.221 145167 chr17 72295986 72295986 C T rs141079076 DNAI2 Nonsynonymous SNV T285M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 33 145168 chr15 90185507 90185507 A G rs762864604 KIF7 Nonsynonymous SNV L774P 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Uncertain significance 16.79 145169 chr15 90210869 90210869 C T PLIN1 Synonymous SNV E309E 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 14.96 145170 chr6 27115061 27115061 C T rs147773994 H2AC12 Synonymous SNV L52L 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 10.04 145171 chr19 59074225 59074225 - G rs775887529 MZF1 Frameshift insertion A474Gfs*156 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 145172 chr6 155054990 155054990 C T rs750021308 SCAF8 Nonsynonymous SNV R64C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 145173 chr17 72839279 72839279 G A rs563639617 GRIN2C Synonymous SNV A999A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.794 145174 chr16 75654551 75654551 G A rs201306376 ADAT1 Synonymous SNV D49D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.459 145175 chr19 6415113 6415113 G T rs377737053 KHSRP Synonymous SNV S722S 0 0.005 0 0 0 2 0 0 0 0 0 0 12.23 145176 chr6 151865707 151865707 A C rs200650721 CCDC170 Nonsynonymous SNV Q148H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.76 145177 chr6 158567910 158567910 A G rs147085187 SERAC1 Nonsynonymous SNV C131R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 22.9 145178 chr18 29049279 29049279 G A rs754443749 DSG3 Nonsynonymous SNV G622S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 145179 chr6 152454428 152454428 C T rs370827602 SYNE1 Nonsynonymous SNV V840M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 145180 chr17 73646780 73646780 G A rs57608326 RECQL5 Synonymous SNV H416H 0.006 0.013 0.003 3 7 5 0.008 1 0 0 0 0 0.89 145181 chr18 29125689 29125689 G T rs375539435 DSG2 Synonymous SNV A780A 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 8.974 145182 chr17 73818709 73818709 G A rs113407120 UNK Synonymous SNV Q663Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.572 145183 chr17 73838639 73838639 C T rs373551579 UNC13D Synonymous SNV G148G 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.904 145184 chr17 73887324 73887324 C T rs34593741 TRIM65 Nonsynonymous SNV G342R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.008 145185 chr17 73888240 73888240 C T rs7208173 TRIM65 Synonymous SNV G257G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.68 145186 chr6 154428639 154428639 C T OPRM1 Nonsynonymous SNV P402S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.39 145187 chr18 31325862 31325862 C T rs372409838 ASXL3 Nonsynonymous SNV P2017L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.174 145188 chr6 155055005 155055005 C T rs778933396 SCAF8 Nonsynonymous SNV R69C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.4 145189 chr17 39919508 39919508 G A rs2230408 JUP Synonymous SNV L408L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 4.381 145190 chr17 73951976 73951976 C T rs75808808 ACOX1 Synonymous SNV G159G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 14 145191 chr17 7416980 7416980 G A rs183110308 POLR2A Synonymous SNV P1799P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 5.421 145192 chr6 161006107 161006107 A G rs780431299 LPA Synonymous SNV H1420H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 145193 chr6 159181723 159181723 C T rs140769430 SYTL3 Nonsynonymous SNV R248W 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.4 145194 chr6 36695441 36695441 C T rs183145440 RAB44 Synonymous SNV H923H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 145195 chr16 12009530 12009530 - CCGCCG rs3031121 GSPT1 G16_S17insGG 0.001 0 0.003 0 1 0 0 1 0 0 0 0 145196 chr19 8186265 8186265 C T rs142237067 FBN3 Nonsynonymous SNV D1030N 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 24.3 145197 chr17 74564830 74564830 C T rs117281881 ST6GALNAC2 Synonymous SNV L274L 0.003 0.003 0.007 1 4 1 0.003 2 1 0 0 0 15.42 145198 chr17 7640547 7640547 C A DNAH2 Synonymous SNV R381R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.54 145199 chr17 74733051 74733051 G A rs778600867 SRSF2 Synonymous SNV D64D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.632 145200 chr17 43333162 43333162 C A rs781206777 SPATA32 Synonymous SNV L129L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.612 145201 chr16 84513578 84513578 C G rs146720539 MEAK7 Nonsynonymous SNV E438Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.6 145202 chr6 41250323 41250323 C T rs2234238 TREM1 Synonymous SNV R72R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.47 145203 chr19 884929 884929 T C rs978426020 MED16 Nonsynonymous SNV N320S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.24 145204 chr6 170598827 170598827 G T DLL1 Nonsynonymous SNV R42S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 145205 chr17 76087561 76087561 G C TNRC6C Nonsynonymous SNV M1278I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.409 145206 chr18 45567126 45567126 C T ZBTB7C Nonsynonymous SNV C118Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25 145207 chr16 8738438 8738438 G A rs199797504 METTL22 Synonymous SNV L345L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.84 145208 chr17 76454762 76454762 C T rs755788126 DNAH17 Nonsynonymous SNV E3288K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 145209 chr16 15813443 15813443 T A rs914070681 MYH11 Nonsynonymous SNV E1694V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 145210 chr6 43403847 43403847 A G rs765844148 ABCC10 Synonymous SNV G551G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 5.193 145211 chr17 78063952 78064015 AACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAG - rs375858249 CCDC40 Q951Rfs*70 0.004 0.005 0.01 4 5 2 0.01 3 0 0 1 1 145212 chr17 78064053 78064145 GGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA - CCDC40 G987_R1017del 0.009 0.013 0.003 5 11 5 0.013 1 0 0 0 0 145213 chr18 55309223 55309223 C T rs773425424 LOC100505549 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.725 145214 chr16 19613030 19613030 C T rs763770250 VPS35L Nonsynonymous SNV R257C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 145215 chr19 9066264 9066264 G C rs370918989 MUC16 Nonsynonymous SNV T7061S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.092 145216 chr7 2752026 2752026 G A rs61743920 AMZ1 Nonsynonymous SNV V281I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 6.966 145217 chr6 28254862 28254862 G C rs41269293 PGBD1 Nonsynonymous SNV V187L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.503 145218 chr18 61645623 61645623 C T rs61735438 SERPINB8 Synonymous SNV N27N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.553 145219 chr17 49362607 49362607 G A UTP18 Synonymous SNV G402G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.13 145220 chr16 8949005 8949005 G T rs772063723 LOC100130283 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.848 145221 chr16 21991927 21991927 A T rs190027776 UQCRC2 Nonsynonymous SNV E395V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 145222 chr17 7906486 7906486 C T rs61749664 GUCY2D Nonsynonymous SNV L41F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.51 145223 chr6 35053695 35053695 C T rs140181302 ANKS1A Synonymous SNV V1095V 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign 16.4 145224 chr17 1028620 1028620 C A rs138742934 ABR Synonymous SNV P2P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.69 145225 chr19 9922237 9922237 G A rs535415557 FBXL12 Nonsynonymous SNV R73C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 145226 chr17 80017898 80017898 G A rs111336032 DUS1L Nonsynonymous SNV T365M 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 9.448 145227 chr17 57093035 57093035 C T rs7222388 TRIM37 Nonsynonymous SNV V684I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 12.72 145228 chr17 57272731 57272731 G A rs148344168 PRR11 Nonsynonymous SNV V262I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 145229 chr17 57968208 57968208 A G rs76112765 TUBD1 Synonymous SNV S52S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 6.886 145230 chr17 58234012 58234012 A G rs35468643 CA4 Synonymous SNV G68G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.611 145231 chr17 58506767 58506767 C G rs61747124 C17orf64 Synonymous SNV A158A 0 0.005 0 0 0 2 0 0 0 0 0 0 9.974 145232 chr7 16460705 16460705 T C rs763209907 CRPPA Synonymous SNV L81L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.766 145233 chr6 74189775 74189775 C T rs775003861 MTO1 Nonsynonymous SNV T352M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 145234 chr17 58529401 58529401 A G rs7212360 APPBP2 Synonymous SNV A377A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 6.659 145235 chr17 59104266 59104266 C T rs16944747 BCAS3 Synonymous SNV A559A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.03 145236 chr17 59489896 59489896 C T rs61764069 C17orf82 0.003 0.005 0.01 2 3 2 0.005 3 0 0 1 0 14.57 145237 chr6 39688522 39688522 C T rs147204228 KIF6 Synonymous SNV L44L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 145238 chr16 28970342 28970342 C T rs147612639 NFATC2IP Nonsynonymous SNV A341V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.37 145239 chr6 39893576 39893576 C T rs144238782 MOCS1 Star tloss M1? 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 33 145240 chr6 40359991 40359991 C T rs3734558 LRFN2 Synonymous SNV S687S 0.004 0.005 0.01 5 5 2 0.013 3 0 0 0 0 6.54 145241 chr16 29818709 29818709 C T rs140085104 MAZ Synonymous SNV N201N 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 15.53 145242 chr16 29845277 29845277 A C MVP Nonsynonymous SNV E156A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 145243 chr17 61564417 61564417 G A rs370481039 ACE Nonsynonymous SNV C189Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.1 145244 chr6 41900375 41900375 C G rs149587548 BYSL Synonymous SNV P415P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 145245 chr16 30794383 30794383 G A rs569332998 ZNF629 Synonymous SNV R422R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.004 145246 chr18 11689700 11689700 G A rs532055871 GNAL Synonymous SNV R46R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.012 145247 chr18 11689887 11689887 C T rs375271294 GNAL Synonymous SNV L109L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 145248 chr6 42980709 42980711 CCT - rs368238057 MEA1 E107del 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 145249 chr18 12264399 12264399 T G rs116777437 CIDEA Nonsynonymous SNV L93V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 145250 chr17 17117017 17117017 G A rs201810397 FLCN Synonymous SNV H564H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.687 145251 chr18 13001488 13001488 A G rs201553106 CEP192 Nonsynonymous SNV E66G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 145252 chr6 89793839 89793839 G A rs201429422 PNRC1 Nonsynonymous SNV S303N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 145253 chr18 13019102 13019102 A G rs74420724 CEP192 Nonsynonymous SNV D316G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 145254 chr6 89975361 89975361 C T rs74529557 GABRR2 Nonsynonymous SNV R287H 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 23.4 145255 chr18 13068134 13068134 C T rs138136666 CEP192 Synonymous SNV S1552S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 145256 chr6 43267437 43267437 C T rs559322938 SLC22A7 Synonymous SNV S190S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.08 145257 chr6 44223292 44223292 C T rs35112470 SLC35B2 Synonymous SNV T17T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13 145258 chr17 18220717 18220717 A C rs763928265 SMCR8 Synonymous SNV P538P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 145259 chr18 22805218 22805218 G A rs35535552 ZNF521 Synonymous SNV C668C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.556 145260 chr18 2587843 2587843 C T rs74873324 NDC80 Synonymous SNV Y228Y 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 8.672 145261 chr17 19235359 19235359 C T rs759700540 EPN2 Synonymous SNV S250S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 145262 chr17 19285744 19285744 G A rs757659396 MAPK7 Nonsynonymous SNV V571I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 145263 chr19 10395679 10395679 C T rs768841852 ICAM1 Synonymous SNV T467T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.999 145264 chr7 36194388 36194388 G A rs773478056 EEPD1 Nonsynonymous SNV G152D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 145265 chr19 11917496 11917496 A G rs200242552 ZNF491 Nonsynonymous SNV Y243C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 145266 chr18 29172937 29172937 G A rs28933979 TTR Nonsynonymous SNV V50M 0.003 0 0 0 3 0 0 0 0 0 0 0 Pathogenic 25.3 145267 chr19 10625638 10625638 A C S1PR5 Nonsynonymous SNV L17R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 145268 chr18 29793417 29793417 T G MEP1B Nonsynonymous SNV C492G 0.006 0.003 0 0 7 1 0 0 0 0 0 0 27.5 145269 chr16 4812711 4812711 C T rs149705876 ZNF500 Nonsynonymous SNV G154E 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 0.002 145270 chr6 111689007 111689007 A G rs372852922 REV3L Nonsynonymous SNV M1995T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 25.7 145271 chr19 14261949 14261949 G A rs200365667 ADGRL1 Synonymous SNV S1382S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.1 145272 chr17 7247240 7247240 C T rs34807059 ACAP1 Nonsynonymous SNV R212W 0 0.003 0 0 0 1 0 0 0 0 0 0 26 145273 chr18 42456692 42456692 C T rs751039254 SETBP1 Nonsynonymous SNV P235S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.239 145274 chr17 2227629 2227629 A C rs201986401 TSR1 Nonsynonymous SNV L759R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 145275 chr19 11979233 11979233 C T rs116023850 ZNF439 Nonsynonymous SNV A314V 0.011 0.003 0 3 13 1 0.008 0 0 0 0 0 5.525 145276 chr7 45960731 45960731 C T rs34239916 IGFBP3 Synonymous SNV R3R 0.009 0.005 0 4 11 2 0.01 0 0 0 0 0 14.75 145277 chr19 1507322 1507322 C T rs151178039 ADAMTSL5 Synonymous SNV T257T 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 11 145278 chr6 70098639 70098639 C T rs141314475 ADGRB3 Synonymous SNV N1475N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.34 145279 chr18 47813144 47813144 T C rs753686296 CXXC1 Nonsynonymous SNV I30V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 145280 chr17 7306399 7306399 C A rs747347470 TMEM256 Nonsynonymous SNV A110S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 145281 chr17 7317727 7317727 G A rs138726680 NLGN2 Synonymous SNV G191G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.873 145282 chr19 12807265 12807265 C T rs950833948 FBXW9 Nonsynonymous SNV G44E 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.73 145283 chr19 1531836 1531836 G T rs184257515 PLK5 Nonsynonymous SNV G223V 0.003 0.013 0.003 3 3 5 0.008 1 0 0 0 0 23 145284 chr6 125550359 125550359 T C TPD52L1 Synonymous SNV N48N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.555 145285 chr18 51795990 51795990 C G rs202045769 POLI Nonsynonymous SNV A25G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 6.679 145286 chr1 147086308 147086308 C T BCL9 Synonymous SNV P151P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.73 145287 chr1 149879698 149879698 G A rs782206283 SV2A Synonymous SNV Y480Y 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.763 145288 chr6 129950515 129950515 C T rs370593148 ARHGAP18 Nonsynonymous SNV D257N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.471 145289 chr17 30520205 30520205 G A rs145734789 RHOT1 Synonymous SNV K230K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.84 145290 chr19 16633995 16633995 G A rs200966843 CHERP Synonymous SNV P616P 0 0.005 0 0 0 2 0 0 0 0 0 0 10.55 145291 chr19 16790826 16790826 C T rs202087879 TMEM38A Synonymous SNV I52I 0 0.005 0 0 0 2 0 0 0 0 0 0 12.44 145292 chr6 132938451 132938451 A T TAAR2 Nonsynonymous SNV D253E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 145293 chr17 73738426 73738426 G A rs139092703 ITGB4 Nonsynonymous SNV D880N 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Uncertain significance 28 145294 chr19 1467435 1467440 GCCCCG - rs879539650 APC2 P1381_A1382del 0.001 0 0 0 1 0 0 0 0 0 0 0 145295 chr6 80721627 80721627 G C TTK Nonsynonymous SNV V276L 0 0 0.003 0 0 0 0 1 0 0 0 0 13 145296 chr6 138753688 138753688 C A NHSL1 Synonymous SNV S602S 0.006 0 0 0 7 0 0 0 0 0 0 0 21.1 145297 chr6 85446649 85446649 G T rs745436531 TBX18 Synonymous SNV P526P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 145298 chr17 74287229 74287229 T C rs149430693 QRICH2 Synonymous SNV A1027A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.718 145299 chr18 59212299 59212299 C T rs185626136 CDH20 Nonsynonymous SNV R524C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 145300 chr6 89868156 89868156 A G rs201312827 PM20D2 Nonsynonymous SNV D342G 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 145301 chr7 64451708 64451708 C G ERV3-1 Nonsynonymous SNV G566A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.913 145302 chr18 57026450 57026450 G C rs747955217 LMAN1 Synonymous SNV L9L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 4.003 145303 chr18 58038832 58038832 T G rs52820871 MC4R Nonsynonymous SNV I251L 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 Benign/Likely benign 11.11 145304 chr19 17339070 17339070 G A rs141402388 OCEL1 Synonymous SNV E208E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 8.559 145305 chr16 67876797 67876826 CAGCAGCAACAGCAGCAGCAGCAGCAACAG - rs770695756 THAP11 Q123_Q132del 0.002 0 0 0 2 0 0 0 0 0 0 0 145306 chr18 67755334 67755334 G A rs62089120 RTTN Nonsynonymous SNV T486M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 145307 chr7 100410526 100410526 G A rs765067395 EPHB4 Nonsynonymous SNV T654M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 145308 chr19 17057952 17057952 G A rs775881900 CPAMD8 Nonsynonymous SNV A865V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.72 145309 chr17 36909561 36909561 C T rs371755222 PSMB3 Synonymous SNV A54A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 21.7 145310 chr16 72831016 72831021 CTGCTG - rs766017146 ZFHX3 Q940_Q941del 0.001 0 0 0 1 0 0 0 0 0 0 0 145311 chr7 90894406 90894406 C T rs574691354 FZD1 Nonsynonymous SNV R71W 0 0 0.007 1 0 0 0.003 2 0 0 0 0 27.9 145312 chr19 18779577 18779577 C T rs200914239 KLHL26 Nonsynonymous SNV A486V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.297 145313 chr7 91667964 91667964 C T rs751035888 AKAP9 Nonsynonymous SNV H1524Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.727 145314 chr6 158957751 158957751 C T rs749821159 TMEM181 Synonymous SNV P91P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 145315 chr7 92083879 92083879 T C GATAD1 Nonsynonymous SNV Y167H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 145316 chr17 76968648 76968648 C T rs770207717 LGALS3BP Synonymous SNV S256S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.49 145317 chr16 75512959 75512959 G A rs146465655 CHST6 Synonymous SNV A256A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 5.222 145318 chr16 80574704 80574704 C A rs75009985 DYNLRB2 Nonsynonymous SNV P15T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.88 145319 chr1 156874628 156874628 A G rs139334858 PEAR1 Nonsynonymous SNV T64A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.275 145320 chr19 18256031 18256031 G A MAST3 Nonsynonymous SNV V982I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 145321 chr6 160557271 160557271 C T rs4646278 SLC22A1 Nonsynonymous SNV R287W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 29.3 145322 chr7 99797905 99797905 A G rs140336185 STAG3 Nonsynonymous SNV K517R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 16.98 145323 chr16 83636136 83636136 G A rs371581191 CDH13 Synonymous SNV T307T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Likely benign 14.17 145324 chr19 18576691 18576691 G A rs45572632 ELL Nonsynonymous SNV A74V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.239 145325 chr19 18778580 18778580 G C rs760591544 KLHL26 Nonsynonymous SNV E154Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 145326 chr17 7915795 7915795 G A rs143585840 GUCY2D Nonsynonymous SNV V662M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 22.8 145327 chr17 79163584 79163584 C T rs199746653 CEP131 Synonymous SNV T1040T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.19 145328 chr19 1003370 1003370 C T rs368329479 GRIN3B Nonsynonymous SNV A223V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.9 145329 chr19 19257933 19257933 G T rs151213204 BORCS8-MEF2B, MEF2B Synonymous SNV G151G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.853 145330 chr19 19735248 19735248 A G rs113352973 LPAR2 Synonymous SNV N291N 0.008 0.013 0.007 1 9 5 0.003 2 0 0 0 0 Benign 8.423 145331 chr19 19989295 19989295 A G rs10406883 ZNF253 Synonymous SNV P3P 0.006 0.013 0.031 5 7 5 0.013 9 0 0 0 0 0.141 145332 chr7 100647659 100647659 C T rs139638547 MUC12 Synonymous SNV Y4605Y 0 0 0.02 0 0 0 0 6 0 0 3 0 0.58 145333 chr7 100647676 100647676 C T rs113138639 MUC12 Nonsynonymous SNV S4611L 0 0 0.051 0 0 0 0 15 0 0 7 0 8.294 145334 chr17 79682615 79682615 C T rs144395868 SLC25A10 Synonymous SNV S107S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.17 145335 chr6 170058059 170058059 C T rs879399646 WDR27 Nonsynonymous SNV E428K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.418 145336 chr1 161748038 161748038 T A ATF6 Synonymous SNV S29S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.711 145337 chr17 8050654 8050654 C T rs143184373 PER1 Nonsynonymous SNV V515M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.581 145338 chr19 2917542 2917542 A G rs138288250 ZNF57 Nonsynonymous SNV Y276C 0.01 0.003 0.01 6 12 1 0.015 3 0 0 0 0 1.831 145339 chr19 3544831 3544831 G C rs753069855 MFSD12 Nonsynonymous SNV L457V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 145340 chr17 8171998 8171998 A G rs752638249 PFAS Nonsynonymous SNV D1177G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.279 145341 chr19 13227015 13227015 G T rs887876144 TRMT1 Nonsynonymous SNV P67T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 27.2 145342 chr7 117180266 117180266 A G CFTR Nonsynonymous SNV I328V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 145343 chr7 122114544 122114544 A G rs199713510 CADPS2 Nonsynonymous SNV M627T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 22.8 145344 chr1 167745359 167745359 G A rs1024099233 MPZL1 Nonsynonymous SNV D222N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.5 145345 chr17 42255670 42255670 G T rs61758719 ASB16 Nonsynonymous SNV S425I 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 20.1 145346 chr17 42432437 42432437 A T FAM171A2 Nonsynonymous SNV L382Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 145347 chr17 42828484 42828484 T A rs117190451 DBF4B Nonsynonymous SNV S571T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.036 145348 chr17 42849660 42849660 G A rs116926739 ADAM11 Nonsynonymous SNV R190Q 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 23.2 145349 chr7 127292442 127292442 G C rs145576520 SND1 Synonymous SNV A5A 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Likely benign 14.4 145350 chr19 36583665 36583665 G A WDR62 Nonsynonymous SNV R762Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 0.943 145351 chr7 127721964 127721964 - G rs779533162 MIR593 0 0 0.003 0 0 0 0 1 0 0 0 0 145352 chr19 34916984 34916984 T G rs747387266 PDCD2L Nonsynonymous SNV C344G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 145353 chr17 43003465 43003465 C T rs202150266 KIF18B Nonsynonymous SNV V848I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.027 145354 chr7 128767250 128767250 G A rs61740497 LOC407835 0 0 0.024 0 0 0 0 7 0 0 0 0 6.923 145355 chr17 4461735 4461735 G A rs776125326 GGT6 Nonsynonymous SNV P124L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.756 145356 chr19 1418213 1418213 C T rs149368439 DAZAP1 Synonymous SNV R27R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.77 145357 chr1 17292984 17292984 G A rs763364549 CROCC Nonsynonymous SNV R1593Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 145358 chr7 132412414 132412414 C T rs375727054 FLJ40288 0 0 0.01 0 0 0 0 3 0 0 0 0 17.53 145359 chr7 133848160 133848160 G A rs145588149 LRGUK Synonymous SNV Q269Q 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 0.473 145360 chr19 3612035 3612035 G A rs61738769 CACTIN Synonymous SNV F721F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 145361 chr17 46863609 46863609 C T rs139242940 TTLL6 Nonsynonymous SNV E253K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.92 145362 chr1 176526212 176526212 G C PAPPA2 Nonsynonymous SNV E252Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.45 145363 chr18 2937867 2937867 C A rs80338805 LPIN2 Nonsynonymous SNV A331S 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.28 145364 chr7 111936292 111936292 G A rs147613739 ZNF277 Nonsynonymous SNV E131K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.7 145365 chr19 15640647 15640647 C T rs201148124 CYP4F22 Nonsynonymous SNV P117L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.5 145366 chr19 39398287 39398287 C T rs760752198 NFKBIB Synonymous SNV S233S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.1 145367 chr19 37441137 37441137 C G rs564713298 ZNF568 Nonsynonymous SNV P297R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 145368 chr19 40030559 40030559 G A rs76427625 EID2 Nonsynonymous SNV P54L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 18.25 145369 chr7 32598771 32598771 A C AVL9 Nonsynonymous SNV S304R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.327 145370 chr18 43248391 43248391 G A rs148964498 SLC14A2 Nonsynonymous SNV G662D 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 26 145371 chr17 17697099 17697099 G A rs11078398 RAI1 Synonymous SNV Q279Q 0.008 0.003 0 5 9 1 0.013 0 0 0 0 0 Benign 0.016 145372 chr7 128508767 128508767 G C ATP6V1FNB Nonsynonymous SNV E157Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.64 145373 chr19 41076515 41076515 C G SPTBN4 Synonymous SNV S2400S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.33 145374 chr18 44773068 44773068 G A rs35717325 SKOR2 Synonymous SNV P829P 0.004 0.013 0.01 3 5 5 0.008 3 0 0 0 0 13.09 145375 chr19 38682862 38682862 G A rs148301092 SIPA1L3 Nonsynonymous SNV R1503Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 145376 chr19 38799635 38799635 C T rs369423923 YIF1B Synonymous SNV P140P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 145377 chr17 55950049 55950049 G A rs528217769 CUEDC1 Synonymous SNV R253R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.34 145378 chr7 133682336 133682336 G A rs146827346 EXOC4 Synonymous SNV S766S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.73 145379 chr18 50278451 50278451 T C DCC Nonsynonymous SNV L40P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 145380 chr18 50451651 50451651 A G rs201234968 DCC Nonsynonymous SNV N299S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.848 145381 chr19 19032764 19032764 C T rs767657097 DDX49 Synonymous SNV I146I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.95 145382 chr19 19032766 19032766 G C rs146434882 DDX49 Nonsynonymous SNV R147P 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 145383 chr1 19536676 19536676 C T rs536643885 UBR4 Nonsynonymous SNV A23T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.86 145384 chr19 19032767 19032767 C T rs140755701 DDX49 Synonymous SNV R147R 0.003 0 0 0 3 0 0 0 0 0 0 0 13.71 145385 chr7 135378890 135378890 G A rs142220692 SLC13A4 Synonymous SNV D372D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.01 145386 chr17 20135672 20135672 G A rs35835131 SPECC1 Nonsynonymous SNV D688N 0.017 0.013 0.041 7 20 5 0.018 12 0 0 0 0 23.3 145387 chr18 5291705 5291705 C T rs1010277012 ZBTB14 Nonsynonymous SNV D168N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.05 145388 chr17 59477548 59477548 C T rs754766050 TBX2 Nonsynonymous SNV P4L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 145389 chr17 59534001 59534001 C T rs763175971 TBX4 Synonymous SNV P50P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 13.03 145390 chr7 138329572 138329572 G A rs79848686 SVOPL Nonsynonymous SNV R75W 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 31 145391 chr19 17881605 17881605 A G rs148568413 FCHO1 Nonsynonymous SNV E115G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 145392 chr17 60749179 60749179 C T rs779663124 MRC2 Synonymous SNV I429I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.07 145393 chr17 61560492 61560492 G A rs757694144 ACE Nonsynonymous SNV R482H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.224 145394 chr17 61833611 61833611 T A CCDC47 Nonsynonymous SNV M313L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.11 145395 chr19 2246908 2246908 A G SF3A2 Nonsynonymous SNV I145V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 145396 chr19 2247942 2247942 G A rs774728118 SF3A2 Nonsynonymous SNV M264I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.81 145397 chr7 150761684 150761684 A G SLC4A2 Nonsynonymous SNV K88E 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 24.9 145398 chr7 141734593 141734593 A C rs190777514 MGAM Nonsynonymous SNV R637S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 145399 chr19 2255220 2255220 C A JSRP1 Stop gain E32X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 145400 chr19 41800260 41800260 C T HNRNPUL1 Synonymous SNV G339G 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 15.22 145401 chr7 143085637 143085637 T C rs76291337 ZYX Synonymous SNV A369A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.007 145402 chr7 143085922 143085922 G A rs75965463 ZYX Synonymous SNV T428T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.02 145403 chr19 44470964 44470964 G A rs150842365 ZNF221 Nonsynonymous SNV R437Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 145404 chr19 41822622 41822622 G A rs200401151 CCDC97 Nonsynonymous SNV R62H 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 25.6 145405 chr19 2415704 2415704 G A rs148115861 TMPRSS9 Nonsynonymous SNV R503Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 145406 chr19 19770514 19770514 G A rs149569402 ATP13A1 Synonymous SNV P191P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.49 145407 chr19 2434991 2434991 G A rs375918278 MIR7108 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.417 145408 chr7 143141140 143141140 A T rs80017500 TAS2R60 Nonsynonymous SNV M199L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 145409 chr7 143208541 143208541 T C rs7809591 OR10AC1 Nonsynonymous SNV R155G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.417 145410 chr7 143208961 143208961 A C rs75946801 OR10AC1 Nonsynonymous SNV L15R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.5 145411 chr7 143208963 143208963 G T rs76021290 OR10AC1 Synonymous SNV L14L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 145412 chr7 143701471 143701471 C T rs28532725 OR6B1 Nonsynonymous SNV R128C 0 0 0 1 0 0 0.003 0 0 0 0 0 22 145413 chr19 44739482 44739482 A G rs199916053 ZNF227 Nonsynonymous SNV H221R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 145414 chr18 7013988 7013988 G A rs371303337 LAMA1 Synonymous SNV C1063C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.629 145415 chr19 34180194 34180194 G A rs62103464 CHST8 Synonymous SNV R9R 0.009 0.013 0.01 3 10 5 0.008 3 0 0 0 0 Benign 13.18 145416 chr17 27958409 27958409 C T rs751092465 SSH2 Nonsynonymous SNV R1241Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 145417 chr17 28652105 28652105 A G rs150886256 TMIGD1 Synonymous SNV P123P 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 4.94 145418 chr19 2853499 2853499 C T ZNF555 Nonsynonymous SNV S478F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 145419 chr17 30219303 30219303 A C rs34859443 UTP6 Nonsynonymous SNV L134V 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 24.2 145420 chr18 8784730 8784730 A G rs373557147 MTCL1 Synonymous SNV L540L 0 0.005 0 0 0 2 0 0 0 0 0 0 1.951 145421 chr19 44501243 44501243 A G rs150596866 ZNF155 Nonsynonymous SNV N412D 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 20.9 145422 chr19 46248528 46248528 G A BHMG1 Synonymous SNV L85L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 145423 chr18 9258135 9258135 A C rs113078133 ANKRD12 Nonsynonymous SNV T1601P 0.005 0.005 0.01 1 6 2 0.003 3 0 0 0 0 0.036 145424 chr7 24742428 24742428 A G rs199971778 GSDME Nonsynonymous SNV L239P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28.6 145425 chr7 80302116 80302116 C T rs148910227 CD36 Nonsynonymous SNV R347W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 34 145426 chr7 26236034 26236034 A G rs117082250 HNRNPA2B1 Synonymous SNV F215F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.152 145427 chr7 27228705 27228705 A G rs536674142 HOXA11-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 18.23 145428 chr7 27239066 27239066 T A rs752041763 HOXA13 Nonsynonymous SNV M211L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 145429 chr7 87911987 87911987 C A rs73205916 STEAP4 Nonsynonymous SNV R318L 0.004 0 0.01 5 5 0 0.013 3 0 0 0 0 Benign 24.3 145430 chr19 10224579 10224579 A G rs201039858 P2RY11, PPAN-P2RY11 Nonsynonymous SNV Y97C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 145431 chr7 296697 296697 T A FAM20C Nonsynonymous SNV V444D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 145432 chr19 3474873 3474873 C A rs141379627 SMIM24 Nonsynonymous SNV D121Y 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.023 145433 chr17 7345975 7345975 C T rs753425499 FGF11 Synonymous SNV Y98Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.24 145434 chr1 213146141 213146141 C T rs141413721 VASH2 Synonymous SNV Y195Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 145435 chr7 99027241 99027241 T - ATP5MF-PTCD1, PTCD1 D262Tfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 145436 chr17 37228828 37228828 A G rs542843674 RDM1P5 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.051 145437 chr19 11436122 11436122 C T rs146422241 RAB3D Synonymous SNV P204P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.35 145438 chr7 99473748 99473748 C A rs770262437 OR2AE1 Synonymous SNV V303V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 145439 chr17 73636368 73636368 C T rs117954398 SMIM5 Synonymous SNV P29P 0.009 0.003 0.01 4 10 1 0.01 3 0 0 0 0 19.24 145440 chr19 49259502 49259502 G A rs140856933 FGF21 Synonymous SNV S3S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 10.15 145441 chr17 38137417 38137417 G A PSMD3 Nonsynonymous SNV R65Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 145442 chr7 100074940 100074940 C T rs768654631 TSC22D4 Nonsynonymous SNV R241Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 145443 chr19 36271158 36271158 C G ARHGAP33 Nonsynonymous SNV L47V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 145444 chr17 73892983 73892983 G A rs55643300 TRIM65 Synonymous SNV C12C 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 14.42 145445 chr17 38499083 38499083 C T rs202229958 RARA Nonsynonymous SNV P43S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.3 145446 chr19 39071087 39071087 C T rs146072491 RYR1 Synonymous SNV F4858F 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign/Likely benign 16.63 145447 chr19 39218649 39218649 G A rs141727248 ACTN4 Nonsynonymous SNV V801M 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Benign/Likely benign 23.4 145448 chr1 221912959 221912959 G T rs148146409 DUSP10 Nonsynonymous SNV P43H 0 0.003 0 4 0 1 0.01 0 0 0 0 0 9.321 145449 chr19 12976617 12976617 G A rs199933031 MAST1 Nonsynonymous SNV V631I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.43 145450 chr19 37309887 37309887 C T ZNF790 Synonymous SNV K453K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.46 145451 chr19 1360743 1360743 C T rs141309061 PWWP3A Synonymous SNV L207L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 9.598 145452 chr1 223396775 223396775 C T rs780973283 SUSD4 Synonymous SNV T420T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.7 145453 chr19 1467667 1467667 G C rs116169601 APC2 Nonsynonymous SNV R1455P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.58 145454 chr19 1469469 1469469 G A rs189440287 APC2 Nonsynonymous SNV A2056T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.033 145455 chr17 39346214 39346214 C A rs528927882 KRTAP9-1 Nonsynonymous SNV P26T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 145456 chr19 1478786 1478786 G T rs142040381 C19orf25 Synonymous SNV I39I 0 0.003 0 0 0 1 0 0 0 0 0 0 1.516 145457 chr17 76162047 76162047 C T rs372937776 C17orf99 Nonsynonymous SNV R240C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.776 145458 chr19 1481919 1481919 G A rs76450268 PCSK4 Nonsynonymous SNV H703Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.449 145459 chr19 48631221 48631221 G A rs766143201 LIG1 Synonymous SNV D558D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.959 145460 chr1 228112034 228112034 C T rs8192630 WNT9A Synonymous SNV A140A 0.007 0.01 0.014 7 8 4 0.018 4 1 0 0 0 Benign 15.56 145461 chr19 39329055 39329055 G A rs149002259 HNRNPL Synonymous SNV T380T 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 13.94 145462 chr17 76888239 76888241 CTC - CEP295NL R116del 0 0 0 1 0 0 0.003 0 0 0 0 0 145463 chr19 15296186 15296186 G A rs761488194 NOTCH3 Synonymous SNV G726G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.96 145464 chr19 49671207 49671207 G A rs113984787 TRPM4 Nonsynonymous SNV A101T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.068 145465 chr17 40021585 40021585 - GCC rs540223512 KLHL11 A16_S17insA 0.002 0 0 0 2 0 0 0 0 0 0 0 145466 chr19 49671212 49671212 T G rs111783027 TRPM4 Synonymous SNV V102V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.175 145467 chr17 40263479 40263479 G T rs782702291 DHX58 Nonsynonymous SNV R69S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.09 145468 chr17 40491395 40491395 G A rs201846078 STAT3 Synonymous SNV A135A 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Benign/Likely benign 10.36 145469 chr7 6465651 6465651 T C rs370672193 DAGLB Nonsynonymous SNV R213G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.57 145470 chr1 228565689 228565689 G C rs186001350 OBSCN Nonsynonymous SNV G7854A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.6 145471 chr17 78933974 78933974 G A rs375708825 RPTOR Nonsynonymous SNV V1034I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 145472 chr19 41211339 41211339 C T rs55895642 COQ8B Synonymous SNV G127G 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 7.713 145473 chr19 52942153 52942153 C A rs963614922 ZNF534 Nonsynonymous SNV N452K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.852 145474 chr1 2318871 2318871 G A rs113863949 MORN1 Synonymous SNV H115H 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 Benign 10.45 145475 chr7 100815644 100815644 C T rs978376868 NAT16 Nonsynonymous SNV V276M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 145476 chr1 234744513 234744513 C A IRF2BP2 Nonsynonymous SNV S243I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.783 145477 chr19 17547374 17547374 G A rs553841578 TMEM221 Nonsynonymous SNV R257W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26.7 145478 chr8 30469817 30469817 T C rs2978277 GTF2E2 Nonsynonymous SNV K183R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 21.7 145479 chr19 51413955 51413956 AC - KLK4 Y14Pfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 145480 chr7 107615699 107615699 T G LAMB1 Nonsynonymous SNV E450A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 145481 chr7 107674783 107674783 G T LAMB4 Nonsynonymous SNV A1563E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 145482 chr19 17654179 17654179 G A rs750474277 NIBAN3 Synonymous SNV T218T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.3 145483 chr17 45774160 45774160 G A rs770102789 TBKBP1 Synonymous SNV K103K 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 12.63 145484 chr19 1775437 1775437 A C rs768785995 ONECUT3 Nonsynonymous SNV K493T 0 0.003 0 0 0 1 0 0 0 0 0 0 22 145485 chr8 38775543 38775543 G A rs374493606 PLEKHA2 Synonymous SNV L32L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.895 145486 chr1 238048865 238048865 G C rs745902324 ZP4 Nonsynonymous SNV S329C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 24.4 145487 chr7 91732039 91732039 G T rs143306820 AKAP9 Nonsynonymous SNV M3743I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.6 145488 chr19 55175788 55175788 A G LILRB4 Synonymous SNV S198S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.03 145489 chr19 18368201 18368201 T C rs139487168 IQCN Nonsynonymous SNV H1298R 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 0.001 145490 chr7 98256507 98256507 G A rs777992828 NPTX2 Nonsynonymous SNV G307S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 145491 chr17 4797476 4797476 A T rs768272242 MINK1 Nonsynonymous SNV E856V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 145492 chr7 128846386 128846386 A G rs748959667 SMO Nonsynonymous SNV I408V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.49 145493 chr19 55607301 55607301 G A rs775293636 PPP1R12C Synonymous SNV P387P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.968 145494 chr19 18879410 18879410 C T CRTC1 Nonsynonymous SNV A376V 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 13.29 145495 chr1 246829035 246829035 T G CNST Nonsynonymous SNV V669G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 145496 chr19 4511637 4511637 C A PLIN4 Nonsynonymous SNV G779W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 145497 chr18 21441702 21441702 T C rs35565501 LAMA3 Synonymous SNV D1505D 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 0.063 145498 chr19 45322624 45322624 C T rs148391498 BCAM Nonsynonymous SNV R499W 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 25.4 145499 chr7 138487672 138487672 G A rs200046284 TMEM213 Nonsynonymous SNV R61Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 145500 chr19 46997490 46997490 G A PNMA8B Synonymous SNV L411L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 3.689 145501 chr18 31803216 31803216 A T NOL4 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 145502 chr19 34791802 34791802 A G rs941410226 KIAA0355 Nonsynonymous SNV M142V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 145503 chr19 5783134 5783134 T C PRR22 Nonsynonymous SNV N375S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 145504 chr19 49232317 49232317 C G rs560340701 RASIP1 Synonymous SNV L570L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.09 145505 chr19 35832334 35832334 A C rs751060554 CD22 Synonymous SNV S355S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 145506 chr8 121344382 121344382 C A rs115728758 COL14A1 Synonymous SNV G1554G 0 0 0 3 0 0 0.008 0 0 0 0 0 12.25 145507 chr8 124348685 124348685 T C rs117984846 ATAD2 Nonsynonymous SNV K1047E 0 0 0 3 0 0 0.008 0 0 0 0 0 23.6 145508 chr1 31212003 31212003 G A rs564645442 MIR4420 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.144 145509 chr7 150034703 150034703 G A rs149223172 LRRC61 Synonymous SNV A251A 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 10.07 145510 chr8 133092000 133092000 G T HHLA1 Nonsynonymous SNV T297K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.8 145511 chr1 3321330 3321330 G A rs371323418 PRDM16 Synonymous SNV T304T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.92 145512 chr8 144103116 144103116 G A rs61997229 LY6E Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.038 145513 chr1 3329229 3329229 G C rs371654192 PRDM16 Nonsynonymous SNV R823P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 24.6 145514 chr8 144457821 144457821 C T rs144295575 RHPN1 Synonymous SNV G53G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.9 145515 chr19 37580030 37580030 G C ZNF420 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 145516 chr19 51052073 51052073 G A rs142075522 LRRC4B Nonsynonymous SNV P8L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.2 145517 chr19 3819198 3819198 G A rs367989987 ZFR2 Synonymous SNV H592H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.198 145518 chr19 5787104 5787104 C T rs200981144 DUS3L Nonsynonymous SNV E211K 0.001 0 0 0 1 0 0 0 0 0 0 0 21 145519 chr18 60646009 60646009 C T rs199630749 PHLPP1 Nonsynonymous SNV P1500L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.73 145520 chr1 36823963 36823963 C G STK40 Nonsynonymous SNV R78S 0 0.005 0 0 0 2 0 0 0 0 0 0 15.71 145521 chr1 36883742 36883742 A G rs759325013 OSCP1 X380Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 21 145522 chr18 61225591 61225591 C T rs12970198 SERPINB12 Nonsynonymous SNV H59Y 0 0 0 1 0 0 0.003 0 0 0 0 0 18.49 145523 chr7 157060317 157060317 C T rs138422763 UBE3C Synonymous SNV S1040S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 145524 chr8 145001441 145001441 T C PLEC Synonymous SNV K1259K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.101 145525 chr8 144462841 144462841 G A rs117282246 RHPN1 Synonymous SNV V433V 0.01 0.008 0.003 4 12 3 0.01 1 0 0 0 0 3.574 145526 chr19 40420105 40420105 G A rs146301736 FCGBP Synonymous SNV F963F 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 2.926 145527 chr1 43395267 43395267 G A rs150384629 SLC2A1 Synonymous SNV N288N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 6.35 145528 chr19 7706668 7706668 C T STXBP2 Synonymous SNV L166L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 145529 chr8 144895160 144895160 G C rs753507238 MIR937 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.72 145530 chr19 53432603 53432603 G T rs11880173 ZNF816-ZNF321P Synonymous SNV I85I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.738 145531 chr8 144943691 144943691 C A EPPK1 Nonsynonymous SNV G1244V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 145532 chr1 43814532 43814532 G C rs895171793 MPL Nonsynonymous SNV G443R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 145533 chr8 144947397 144947397 G A EPPK1 Nonsynonymous SNV L9F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.078 145534 chr8 144992427 144992427 G A rs781931763 PLEC Synonymous SNV R3840R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.944 145535 chr8 144995534 144995534 C T rs782271365 PLEC Nonsynonymous SNV V2805M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.4 145536 chr8 144998577 144998577 G A rs374790646 PLEC Synonymous SNV A1826A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.31 145537 chr8 144999086 144999086 G A rs782189427 PLEC Nonsynonymous SNV R1657C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 24.9 145538 chr18 77246762 77246762 G A rs763116408 NFATC1 Synonymous SNV P397P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.982 145539 chr19 53793744 53793744 G A BIRC8 0.001 0 0 0 1 0 0 0 0 0 0 0 8.33 145540 chr8 22067121 22067121 G A BMP1 Synonymous SNV E913E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 145541 chr19 9009665 9009665 T C rs755683779 MUC16 Nonsynonymous SNV N13021D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.54 145542 chr19 54711431 54711431 G C rs753325379 RPS9 Nonsynonymous SNV E150D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 145543 chr8 22462216 22462216 G A LOC107986876 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 145544 chr17 7558846 7558846 G A ATP1B2 Nonsynonymous SNV R122Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 145545 chr19 4355154 4355154 C T rs771022819 MPND Nonsynonymous SNV A327V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 145546 chr17 76446906 76446906 T - DNAH17 N3586Tfs*7 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 145547 chr8 17612686 17612686 A C rs61733697 MTUS1 Nonsynonymous SNV S211A 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 10.94 145548 chr8 24810374 24810376 CTC - rs3832558 NEFL E527del 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 145549 chr1 52344245 52344245 T G rs72901974 NRDC Synonymous SNV R15R 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 7.573 145550 chr1 54432024 54432024 C T rs199672935 LRRC42 Nonsynonymous SNV S328L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.69 145551 chr9 4625546 4625546 C T rs12338523 SPATA6L Synonymous SNV R59R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.109 145552 chr8 22863582 22863582 A G rs141992570 RHOBTB2 Nonsynonymous SNV I143V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 145553 chr9 8518056 8518056 A G rs200537516 PTPRD Synonymous SNV N435N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.01 145554 chr19 9069507 9069507 G T rs144202009 MUC16 Nonsynonymous SNV T5980N 0.013 0.005 0.01 5 15 2 0.013 3 0 0 0 0 0.058 145555 chr19 55877441 55877441 C A rs145194651 IL11 Synonymous SNV L99L 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Benign 9.068 145556 chr19 56125880 56125880 - CGCTGCCAG ZNF865 A304_T305insSAA 0.001 0 0 0 1 0 0 0 0 0 0 0 145557 chr8 39323405 39323405 G A rs111421900 ADAM3A 0 0 0.02 0 0 0 0 6 0 0 1 0 9.313 145558 chr19 11665178 11665178 A C ELOF1 Synonymous SNV A16A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.769 145559 chr19 12126365 12126365 T G rs940717511 ZNF433 Synonymous SNV T439T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.962 145560 chr8 48625376 48625376 G T rs199536803 SPIDR Nonsynonymous SNV E215D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.41 145561 chr17 80048291 80048291 G A rs145270309 FASN Synonymous SNV I610I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.979 145562 chr19 13248379 13248379 C T NACC1 Synonymous SNV H438H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.3 145563 chr8 53477647 53477647 G C rs933499185 ALKAL1 Nonsynonymous SNV P57R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.28 145564 chr19 9237420 9237420 G A rs140909691 OR7G3 Synonymous SNV V69V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.748 145565 chr19 57176052 57176052 C G ZNF835 Nonsynonymous SNV G172A 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 23.6 145566 chr1 1007559 1007559 G C rs762881797 RNF223 Nonsynonymous SNV R130G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.91 145567 chr8 37732225 37732225 G A rs141536416 RAB11FIP1 Nonsynonymous SNV S477L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.391 145568 chr19 14938913 14938913 C T rs147832964 OR7A5 Synonymous SNV L47L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.453 145569 chr17 8701245 8701245 G A rs142821573 MFSD6L Synonymous SNV S398S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.124 145570 chr17 8796915 8796915 C T rs144891748 PIK3R5 Nonsynonymous SNV R157H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 23.3 145571 chr8 67109482 67109482 C T rs111546680 LINC00967 0 0 0.014 0 0 0 0 4 0 0 0 0 3.113 145572 chr19 5790281 5790281 C T rs139575458 DUS3L Nonsynonymous SNV R55Q 0.003 0.005 0 0 4 2 0 0 0 1 0 0 3.41 145573 chr19 47126840 47126840 G A rs201340109 PTGIR Nonsynonymous SNV R215C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 145574 chr8 71593355 71593355 A G XKR9 Nonsynonymous SNV D21G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 145575 chr1 67450468 67450468 C A MIER1 Nonsynonymous SNV P475H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 145576 chr8 56879369 56879369 A G LYN Nonsynonymous SNV T275A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.65 145577 chr8 75525173 75525173 A G rs112838021 MIR2052HG 0 0 0.017 0 0 0 0 5 0 0 0 0 6.091 145578 chr19 59081847 59081847 C T MZF1 Synonymous SNV E148E 0.001 0 0 5 1 0 0.013 0 0 0 0 0 11.72 145579 chr1 110214155 110214155 A G rs138914594 GSTM2 Nonsynonymous SNV S173G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.395 145580 chr19 617822 617822 G A rs146355392 POLRMT Synonymous SNV H1150H 0.004 0 0 0 5 0 0 0 0 0 0 0 6.317 145581 chr19 58904511 58904511 G A rs112637700 RPS5 Nonsynonymous SNV V93I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.1 145582 chr19 618584 618584 T C rs753080676 POLRMT Nonsynonymous SNV K1109R 0.003 0 0 0 3 0 0 0 0 0 0 0 1.551 145583 chr8 91094898 91094898 G C rs150754549 CALB1 Nonsynonymous SNV L10V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.542 145584 chr8 80677707 80677707 T C rs757186750 HEY1 Nonsynonymous SNV T121A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.578 145585 chr18 28935122 28935122 G T rs776751780 DSG1 Nonsynonymous SNV S988I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 145586 chr8 92090645 92090645 A C rs148822489 OTUD6B Nonsynonymous SNV N126T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Uncertain significance 24.4 145587 chr9 100616939 100616939 C G rs538912281 FOXE1 Nonsynonymous SNV A248G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 23.2 145588 chr9 100899920 100899920 G A rs373924781 CORO2A Synonymous SNV N84N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.592 145589 chr9 101542616 101542616 G A rs751555346 ANKS6 Nonsynonymous SNV T408M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 145590 chr19 17927781 17927781 G A rs104894697 INSL3 Nonsynonymous SNV P93L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Pathogenic 0.194 145591 chr1 881825 881825 C T rs143216532 NOC2L Nonsynonymous SNV R587H 0 0.003 0 0 0 1 0 0 0 0 0 0 22 145592 chr1 115829363 115829363 C T rs6325 NGF Synonymous SNV A18A 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 Benign 11.71 145593 chr9 10613257 10613257 T C rs10738170 PTPRD-AS2 0 0 0.027 0 0 0 0 8 0 0 4 0 9.087 145594 chr1 116609280 116609280 G A rs188663712 SLC22A15 Nonsynonymous SNV R502H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.3 145595 chr1 1168141 1168141 G A rs373668725 B3GALT6 Synonymous SNV A161A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 11.38 145596 chr1 117120150 117120150 G A rs146492537 IGSF3 Synonymous SNV D1123D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 6.034 145597 chr19 18260344 18260344 C T rs748087638 MAST3 Synonymous SNV A1246A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.22 145598 chr19 847943 847943 C G PRTN3 Nonsynonymous SNV R249G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.511 145599 chr1 898117 898117 C T rs138285406 KLHL17 Nonsynonymous SNV R288C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 145600 chr19 51021632 51021632 G A rs936580936 LRRC4B Synonymous SNV T446T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.21 145601 chr9 111625259 111625259 G A rs3739693 ACTL7A Synonymous SNV V219V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 3.471 145602 chr9 111625620 111625620 G A rs7872077 ACTL7A Nonsynonymous SNV V340M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 11.19 145603 chr8 101727792 101727792 C T rs201575415 PABPC1 Nonsynonymous SNV A181T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 145604 chr8 101727796 101727796 T C rs200041005 PABPC1 Synonymous SNV R179R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.079 145605 chr19 875388 875388 G A rs770711865 MED16 Nonsynonymous SNV R543C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.3 145606 chr8 101727801 101727801 C T rs77943211 PABPC1 Nonsynonymous SNV E178K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 145607 chr18 47753783 47753783 G T rs192619553 CFAP53 Nonsynonymous SNV R505S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.7 145608 chr18 51898838 51898838 C A rs371851488 C18orf54 Nonsynonymous SNV S263R 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 21.6 145609 chr9 114365179 114365179 G A LRRC37A5P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.658 145610 chr1 151694588 151694588 G C rs193236517 RIIAD1 Nonsynonymous SNV K37N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 145611 chr1 94667330 94667330 T C rs148745316 ARHGAP29 Synonymous SNV E345E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.198 145612 chr19 51871816 51871816 T C CLDND2 Nonsynonymous SNV S6G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 145613 chr8 120581571 120581571 C T rs748275252 ENPP2 Nonsynonymous SNV V653I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 145614 chr19 21720001 21720001 A G rs111400547 ZNF429 Synonymous SNV S318S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.749 145615 chr9 116856207 116856207 A C KIF12 Nonsynonymous SNV N315K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 145616 chr1 146756049 146756049 T A rs782717334 CHD1L Synonymous SNV G373G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 145617 chr9 117552875 117552875 C T rs747201293 TNFSF15 Nonsynonymous SNV G146S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 145618 chr1 153750309 153750309 C T rs151230291 SLC27A3 Nonsynonymous SNV T370M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.8 145619 chr9 117848668 117848668 G C rs145086096 TNC Nonsynonymous SNV R448G 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Benign/Likely benign 18.68 145620 chr8 125088512 125088512 A - rs753826623 FER1L6 I1390Sfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 145621 chr1 151106464 151106464 C - SEMA6C Q569Hfs*174 0.001 0 0 0 1 0 0 0 0 0 0 0 145622 chr8 131916125 131916125 C T rs761767210 ADCY8 Nonsynonymous SNV V602I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 145623 chr9 123671646 123671646 A G rs759387426 TRAF1 Synonymous SNV T176T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.466 145624 chr1 152129102 152129102 T C rs201412217 RPTN Nonsynonymous SNV H158R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 145625 chr9 117848222 117848222 A G TNC Synonymous SNV S596S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 145626 chr8 133883773 133883773 G A rs114781869 TG Nonsynonymous SNV R152H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 29.6 145627 chr1 156108474 156108474 A G LMNA Nonsynonymous SNV S602G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 145628 chr8 139149481 139149481 G A rs746954728 FAM135B Synonymous SNV V1308V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.49 145629 chr20 21686368 21686368 C A PAX1 Synonymous SNV G6G 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 16.6 145630 chr1 153748286 153748286 C T rs767993919 SLC27A3 Nonsynonymous SNV R105C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 145631 chr20 23028799 23028799 C A THBD Nonsynonymous SNV G448V 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 22.8 145632 chr19 9089658 9089658 C T rs147920442 MUC16 Synonymous SNV K719K 0.003 0.008 0.007 3 3 3 0.008 2 0 0 0 0 9.514 145633 chr1 156708443 156708443 - T MRPL24 Frameshift insertion H18Qfs*34 0 0.003 0 0 0 1 0 0 0 0 0 0 145634 chr9 127110053 127110053 C T rs760661821 NEK6 Synonymous SNV I279I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 145635 chr19 3574554 3574554 G A HMG20B Synonymous SNV E107E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.01 145636 chr1 154933994 154933994 G T PYGO2 Nonsynonymous SNV P20Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.9 145637 chr1 157522135 157522135 T C FCRL5 Nonsynonymous SNV I6M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.025 145638 chr1 155287655 155287655 A C RUSC1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.418 145639 chr9 126133006 126133006 G A CRB2 Synonymous SNV S558S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.565 145640 chr1 101197055 101197055 G A rs147753008 VCAM1 Synonymous SNV T410T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 145641 chr20 3018707 3018707 A G rs372813177 PTPRA Synonymous SNV E770E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.891 145642 chr1 103380289 103380289 G A rs200465040 COL11A1 Nonsynonymous SNV P1183S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 145643 chr1 104616251 104616251 C T LOC100129138 0.002 0 0 0 2 0 0 0 0 0 0 0 5.991 145644 chr19 54754683 54754683 T C rs148899015 LILRB5 Synonymous SNV E481E 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.007 145645 chr1 158614070 158614070 G A rs189877287 SPTA1 Synonymous SNV D1437D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.994 145646 chr8 144994410 144994410 G A rs782053941 PLEC Synonymous SNV G3179G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.53 145647 chr1 110170460 110170460 A - AMPD2 N318Mfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 145648 chr1 110586434 110586434 C T rs374504597 STRIP1 Synonymous SNV D319D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 145649 chr1 158063551 158063551 C T rs139995772 KIRREL1 Nonsynonymous SNV S473L 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 35 145650 chr1 158450552 158450552 G A rs147621561 OR10R2 Synonymous SNV T295T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 5.044 145651 chr9 133738230 133738230 C T rs756057097 ABL1 Synonymous SNV I210I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.83 145652 chr8 145661633 145661633 G A TONSL Nonsynonymous SNV A728V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 145653 chr1 158606503 158606503 C G SPTA1 Nonsynonymous SNV Q1746H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 145654 chr9 136253292 136253292 T C rs74722439 STKLD1 Nonsynonymous SNV I119T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 145655 chr19 1047308 1047308 C T ABCA7 Synonymous SNV S666S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.697 145656 chr20 39990445 39990445 C T rs114022947 EMILIN3 Synonymous SNV K588K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.958 145657 chr19 10502380 10502380 G A rs532403111 CDC37 Synonymous SNV D328D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.279 145658 chr19 10665995 10665995 G A rs200050484 KRI1 Nonsynonymous SNV R550W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 35 145659 chr1 159175418 159175420 CTT - rs763291489 ACKR1 F67del 0.001 0 0 0 1 0 0 0 0 0 0 0 145660 chr19 56297164 56297164 T G rs116820715 NLRP11 Nonsynonymous SNV I878L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 0.013 145661 chr1 160061700 160061700 C T rs754611655 IGSF8 Synonymous SNV L585L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.89 145662 chr1 160064843 160064843 G A rs745418654 IGSF8 Synonymous SNV F86F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.901 145663 chr1 166810264 166810264 G A rs141874882 POGK Nonsynonymous SNV R24Q 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 17.54 145664 chr1 160786592 160786592 C T LY9 Synonymous SNV C427C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.627 145665 chr9 138594203 138594203 A G rs146152956 KCNT1 Synonymous SNV Q33Q 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.119 145666 chr19 56538966 56538966 G A rs200829045 NLRP5 Nonsynonymous SNV R456H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 145667 chr1 168014286 168014286 T C rs144703806 DCAF6 Synonymous SNV T469T 0 0.005 0 0 0 2 0 0 0 0 0 0 6.33 145668 chr1 168014287 168014287 G C rs147907503 DCAF6 Nonsynonymous SNV E470Q 0 0.005 0 0 0 2 0 0 0 0 0 0 11.72 145669 chr19 11537698 11537698 C G rs755774292 CCDC151 Nonsynonymous SNV A177P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 145670 chr9 139235559 139235559 G A rs113795708 GPSM1 Nonsynonymous SNV R439H 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 4.167 145671 chr19 1272259 1272259 G C CIRBP Synonymous SNV G237G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.652 145672 chr9 13221401 13221401 T C rs146224964 MPDZ Synonymous SNV K282K 0.008 0.013 0.007 0 9 5 0 2 0 0 0 0 Benign 7.43 145673 chr9 139390958 139390958 T C rs11574911 NOTCH1 Synonymous SNV P2411P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.002 145674 chr19 41737122 41737122 C G rs987881778 AXL Synonymous SNV V234V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.03 145675 chr19 5733931 5733931 A C rs201875294 CATSPERD Nonsynonymous SNV Q114P 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 0.002 145676 chr9 14801728 14801728 A G FREM1 Nonsynonymous SNV S1206P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.197 145677 chr19 14088832 14088832 C T RFX1 Nonsynonymous SNV G301S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 145678 chr1 17296792 17296792 C T rs145211796 CROCC Synonymous SNV T1832T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 8.729 145679 chr9 19119751 19119751 G A rs759699438 PLIN2 Nonsynonymous SNV T225I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 145680 chr9 140006432 140006432 A G rs78671427 DPP7 Nonsynonymous SNV M367T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 145681 chr19 57984968 57984968 C T rs142150770 ZNF772 Nonsynonymous SNV E270K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 145682 chr20 49219097 49219097 C T rs138287130 RIPOR3 Nonsynonymous SNV D391N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23 145683 chr20 49224995 49224995 C T rs146773676 RIPOR3 Nonsynonymous SNV R296Q 0.009 0.005 0.014 2 11 2 0.005 4 0 0 0 0 18.86 145684 chr20 49366491 49366491 C T rs61730981 PARD6B Synonymous SNV S195S 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 6.88 145685 chr1 169847802 169847802 C T rs147935620 SCYL3 Synonymous SNV L108L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 10.54 145686 chr1 145538046 145538046 G A rs782719507 ITGA10 Nonsynonymous SNV V766M 0.002 0 0 0 2 0 0 0 0 0 0 0 8.064 145687 chr19 44056954 44056954 G A rs143917286 XRCC1 Nonsynonymous SNV P273L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 23.8 145688 chr19 58437573 58437573 C T rs181599765 ZNF418 Nonsynonymous SNV S574N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.018 145689 chr1 17681096 17681096 G A rs138375185 PADI4 Synonymous SNV G408G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.42 145690 chr9 140409877 140409877 C A rs3750379 PNPLA7 Nonsynonymous SNV E368D 0.002 0.003 0.01 0 2 1 0 3 0 0 1 0 10.48 145691 chr9 140409891 140409891 G C rs3750378 PNPLA7 Nonsynonymous SNV Q364E 0.002 0.003 0.01 0 2 1 0 3 0 0 1 0 0.002 145692 chr9 140459603 140459603 C A rs756914414 DPH7 Nonsynonymous SNV G81V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 145693 chr9 33470050 33470050 C T rs116020901 NOL6 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 145694 chr9 14306011 14306011 T C rs75551109 NFIB Nonsynonymous SNV N190S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 10.66 145695 chr1 173010793 173010793 G A rs61756336 TNFSF18 Nonsynonymous SNV S105F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.4 145696 chr9 14842566 14842566 C T FREM1 Nonsynonymous SNV V496I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 145697 chr9 14842649 14842649 C G FREM1 Nonsynonymous SNV G468A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 145698 chr1 17331928 17331928 G A rs763004392 ATP13A2 Nonsynonymous SNV L77F 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 17.09 145699 chr1 179352648 179352648 T A rs147412323 AXDND1 Nonsynonymous SNV V237E 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 27.9 145700 chr1 152081874 152081874 T C rs142908869 TCHH Synonymous SNV E1273E 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.156 145701 chr1 152084702 152084702 G A rs201930497 TCHH Stop gain Q331X 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely pathogenic 26.5 145702 chr9 17466855 17466855 A G rs755727148 CNTLN Nonsynonymous SNV N1273S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.777 145703 chr1 179820394 179820394 A G rs151336469 TOR1AIP2 Nonsynonymous SNV C47R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.734 145704 chr20 57036180 57036180 C T rs142546037 APCDD1L Nonsynonymous SNV R391Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24 145705 chr20 57428804 57428804 A G rs138731520 GNAS Nonsynonymous SNV M162V 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Benign 12.09 145706 chr9 35906550 35906550 A C rs199964587 HRCT1 Nonsynonymous SNV H89P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.348 145707 chr1 151491581 151491581 C T rs144617400 CGN Nonsynonymous SNV R196W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 145708 chr1 152733723 152733723 - C rs545233716 KPRP Frameshift insertion R554Pfs*31 0.003 0 0.003 0 3 0 0 1 0 0 0 0 145709 chr1 180399326 180399326 T C rs189730262 ACBD6 Synonymous SNV E152E 0 0.005 0 0 0 2 0 0 0 0 0 0 1.003 145710 chr19 695352 695352 C A rs374824335 PRSS57 Nonsynonymous SNV G27C 0 0.003 0 0 0 1 0 0 0 0 0 0 4.899 145711 chr1 153984776 153984776 T C rs200793752 NUP210L Nonsynonymous SNV N1575S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.29 145712 chr1 15421416 15421416 G A rs746172858 KAZN Nonsynonymous SNV E512K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 145713 chr19 17424898 17424898 G A rs374142177 DDA1 Nonsynonymous SNV V24M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 145714 chr20 60922026 60922026 C T rs536322214 LAMA5 Nonsynonymous SNV G339S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 33 145715 chr9 34126358 34126358 G T DCAF12 Synonymous SNV G24G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.461 145716 chr1 153662213 153662213 C T rs764813142 MIR8083 0.001 0 0 0 1 0 0 0 0 0 0 0 3.03 145717 chr9 34489437 34489437 A G rs3818577 DNAI1 Synonymous SNV E126E 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Benign/Likely benign 0.049 145718 chr9 34512393 34512393 T G rs11999454 DNAI1 Nonsynonymous SNV V491G 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Benign/Likely benign 4.908 145719 chr1 155013056 155013056 C T rs138112772 DCST1 Nonsynonymous SNV R138C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.1 145720 chr19 45997470 45997470 G A RTN2 Synonymous SNV L256L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.438 145721 chr19 46281128 46281128 G A rs149122951 DMPK Nonsynonymous SNV R138W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.41 145722 chr1 156314440 156314440 T G rs41265041 TSACC Nonsynonymous SNV L35R 0.011 0.018 0.01 7 13 7 0.018 3 0 0 0 0 28.8 145723 chr19 18899672 18899672 G A COMP Synonymous SNV P193P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 145724 chr9 711331 711331 G A rs200751333 KANK1 Nonsynonymous SNV G31S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 24.4 145725 chr9 97382669 97382669 G A rs141270413 FBP1 Nonsynonymous SNV T92M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 145726 chr9 99086419 99086419 C A rs969922064 SLC35D2 Nonsynonymous SNV S174I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 145727 chr9 100616707 100616712 GCCGCC - FOXE1 A178_A179del 0.001 0 0 0 1 0 0 0 0 0 0 0 145728 chr1 156816335 156816335 C T rs138923152 INSRR Nonsynonymous SNV V596I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.178 145729 chr19 2226592 2226592 G C DOT1L Nonsynonymous SNV G1358R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 145730 chr9 103088713 103088713 C T rs112103395 TEX10 Nonsynonymous SNV R620H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 145731 chr9 8331712 8331712 G C PTPRD Nonsynonymous SNV Q1395E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 145732 chr1 197112848 197112848 T C ASPM Synonymous SNV T178T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 1.197 145733 chr1 159912882 159912882 C G rs766943352 IGSF9 Nonsynonymous SNV G40R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.5 145734 chr1 158368642 158368642 G A rs145580938 OR10T2 Synonymous SNV I205I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.217 145735 chr9 94519599 94519599 C G ROR2 Nonsynonymous SNV G140R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 145736 chr9 95064090 95064090 T C rs199815525 NOL8 Nonsynonymous SNV K935R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 145737 chr19 2934436 2934436 T A rs201716697 ZNF77 Nonsynonymous SNV H230L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 145738 chr19 49513308 49513308 C T rs142701081 RUVBL2 Synonymous SNV D182D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.39 145739 chr1 16344368 16344368 A G HSPB7 Nonsynonymous SNV S31P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.53 145740 chr19 50215138 50215138 G T CPT1C Nonsynonymous SNV G647W 0 0 0 2 0 0 0.005 0 0 0 0 0 35 145741 chrX 106185951 106185951 C T rs139105737 MORC4 Nonsynonymous SNV A724T 0.002 0.003 0.014 0 2 1 0 4 1 0 2 0 Benign 16.14 145742 chrX 107898565 107898565 A C rs146873772 COL4A5 Nonsynonymous SNV E1084A 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 22.7 145743 chr19 33904518 33904518 C T rs200871513 PEPD Nonsynonymous SNV G194S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 145744 chr1 100155193 100155193 G T rs35317701 PALMD Nonsynonymous SNV E459D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.46 145745 chr1 167096049 167096049 T C rs147322156 DUSP27 Synonymous SNV L561L 0.005 0 0.003 0 6 0 0 1 0 0 0 0 0.062 145746 chr1 109395001 109395001 G A rs758825101 AKNAD1 Nonsynonymous SNV H96Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 145747 chr1 109526041 109526041 C T rs141008401 WDR47 Nonsynonymous SNV R661H 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 34 145748 chr1 205904837 205904837 G A rs551668115 SLC26A9 Nonsynonymous SNV R38C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 145749 chr21 43339064 43339064 C T rs143816429 C2CD2 Synonymous SNV E11E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 145750 chrX 145075804 145075804 C G rs138166791 MIR890 0 0 0.007 0 0 0 0 2 0 0 1 0 4.041 145751 chr21 44474053 44474053 G A rs768230991 CBS, CBSL Synonymous SNV F426F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.05 145752 chr9 123837111 123837111 G A rs887105125 C5 Nonsynonymous SNV P2S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.975 145753 chr1 216373186 216373186 G A rs749578295 USH2A Synonymous SNV Y1198Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.944 145754 chr9 124065264 124065264 G T rs138153246 GSN Nonsynonymous SNV R142L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 145755 chr19 3746627 3746627 C T rs758194404 TJP3 Nonsynonymous SNV R719C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 145756 chr19 52115500 52115500 A G rs200100855 SIGLEC5 Nonsynonymous SNV I547T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.6 145757 chr21 45555961 45555961 C G rs144227061 GATD3A, GATD3B Nonsynonymous SNV R72G 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 33 145758 chr1 171077245 171077245 C G FMO3 Nonsynonymous SNV C107W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 145759 chr21 45786659 45786659 C T rs575116901 TRPM2 Nonsynonymous SNV T149M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 145760 chrX 25031502 25031502 G T rs777162737 ARX Nonsynonymous SNV R204S 0 0 0.007 0 0 0 0 2 0 0 1 0 14.16 145761 chrX 27479236 27479236 C T rs140670004 PPP4R3C Synonymous SNV T726T 0 0 0.007 0 0 0 0 2 0 0 1 0 5.307 145762 chr1 172502617 172502617 C T rs45505403 SUCO Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 145763 chr19 38135582 38135582 C A rs112995701 ZFP30 Nonsynonymous SNV C22F 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 16.87 145764 chr1 113655277 113655277 G A rs772431120 LRIG2 Nonsynonymous SNV V659I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 145765 chr1 216462700 216462700 A T rs763507111 USH2A Nonsynonymous SNV D631E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.36 145766 chrX 49645615 49645615 C G rs183681992 USP27X Synonymous SNV G235G 0.003 0.005 0.014 1 4 2 0.003 4 0 1 2 0 Benign 6.314 145767 chr1 114682286 114682286 G A rs144510124 SYT6 Nonsynonymous SNV R155C 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 28.1 145768 chr9 128088774 128088774 C T rs149991575 GAPVD1 Synonymous SNV D625D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 145769 chrX 67941921 67941921 C G rs754257718 STARD8 Nonsynonymous SNV P751R 0 0 0.007 0 0 0 0 2 0 0 1 0 24.8 145770 chr1 180065238 180065238 A G rs148604954 CEP350 Synonymous SNV Q2995Q 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 8.939 145771 chr9 130707929 130707929 G T rs145798441 FAM102A Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.976 145772 chr1 180155276 180155276 C T rs189319097 QSOX1 Nonsynonymous SNV R326C 0.007 0.008 0 3 8 3 0.008 0 0 0 0 0 34 145773 chr9 131071856 131071856 C G rs41313867 TRUB2 Nonsynonymous SNV L279F 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 11.29 145774 chr9 131115805 131115805 A G SLC27A4 Nonsynonymous SNV I437V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.908 145775 chrY 14888783 14888783 A C rs2032600 USP9Y Synonymous SNV L876L 0 0 0.007 0 0 0 0 2 0 0 1 0 7.267 145776 chr9 131245095 131245095 C T rs761492169 ODF2 Nonsynonymous SNV R225C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 145777 chr9 131344110 131344110 C T rs148727077 SPTAN1 Nonsynonymous SNV A504V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 24.5 145778 chr19 40581066 40581066 C T rs144919039 ZNF780A Nonsynonymous SNV R428H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.22 145779 chr19 40581988 40581988 C T rs138807235 ZNF780A Nonsynonymous SNV D121N 0.003 0.005 0.014 1 3 2 0.003 4 0 0 1 0 0.002 145780 chr22 18020294 18020294 C T rs370557052 CECR2 Synonymous SNV S400S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 13.86 145781 chr19 54868166 54868166 C T rs903998725 LAIR1 Nonsynonymous SNV V155I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.72 145782 chr9 131554840 131554840 G A rs148490755 TBC1D13 Nonsynonymous SNV D124N 0.003 0 0 0 3 0 0 0 0 0 0 0 29.8 145783 chr1 183209311 183209311 C T rs139043074 LAMC2 Nonsynonymous SNV T1069M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 7.658 145784 chr22 21288178 21288178 C T rs771364672 CRKL Synonymous SNV D141D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.03 145785 chr22 21377001 21377001 G T rs776197711 P2RX6 Stop gain E116X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 37 145786 chr22 21385599 21385599 T C SLC7A4 Nonsynonymous SNV Y168C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 145787 chr10 105200111 105200111 G A rs191321233 PDCD11 Nonsynonymous SNV V1405M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 145788 chr10 107022203 107022203 G A rs78002020 SORCS3 Synonymous SNV T1186T 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Benign 15.41 145789 chr10 10988530 10988530 A G rs117974447 LINC00710 0 0 0.068 0 0 0 0 20 0 0 0 0 1.997 145790 chr1 236176777 236176777 T G rs148665567 NID1 Nonsynonymous SNV T780P 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Likely benign 17.7 145791 chr10 112352965 112352965 C T SMC3 Synonymous SNV D649D 0 0 0.007 0 0 0 0 2 0 0 0 0 13.71 145792 chr1 228467722 228467722 G A rs755568764 OBSCN Nonsynonymous SNV A2533T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.16 145793 chr1 146757092 146757092 A C rs13374920 CHD1L Nonsynonymous SNV E445A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.491 145794 chr1 146758091 146758091 C A CHD1L Nonsynonymous SNV P508Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.888 145795 chr1 19203949 19203949 C T rs147471420 ALDH4A1 Synonymous SNV G306G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.97 145796 chr9 135554758 135554758 A G rs754243448 GTF3C4 Synonymous SNV L584L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.747 145797 chr1 150526355 150526355 G A rs771518824 ADAMTSL4 Synonymous SNV G296G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.538 145798 chr19 5650993 5650993 C T rs887776037 SAFB Synonymous SNV R244R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.24 145799 chr19 44471322 44471322 C T rs144494014 ZNF221 Synonymous SNV H556H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.1 145800 chr9 137686933 137686933 C T rs781027757 COL5A1 Synonymous SNV T902T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.43 145801 chr19 56717293 56717293 A G ZSCAN5C Nonsynonymous SNV N4S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.171 145802 chr1 231155670 231155670 C T rs201394627 FAM89A Nonsynonymous SNV R165Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 145803 chr22 30768265 30768265 G A rs199564078 CCDC157 Nonsynonymous SNV R442H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 145804 chr1 232600798 232600798 T G rs748766418 SIPA1L2 Nonsynonymous SNV I870L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.61 145805 chr10 102766527 102766527 C T rs79091404 LZTS2 Nonsynonymous SNV R318W 0.007 0 0 3 8 0 0.008 0 0 0 0 0 32 145806 chr1 233296103 233296103 C T rs186450312 PCNX2 Nonsynonymous SNV R1148H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 145807 chr9 139275217 139275217 C T rs370625248 SNAPC4 Nonsynonymous SNV R825Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.303 145808 chr10 124273857 124273857 C T rs779158785 HTRA1 Synonymous SNV P475P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 10.63 145809 chr1 154962982 154962982 T A FLAD1 Nonsynonymous SNV F511Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.934 145810 chr1 204091447 204091447 T G rs201088152 SOX13 Nonsynonymous SNV M315R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 145811 chr19 58772262 58772262 A T rs61732963 ZNF544 Nonsynonymous SNV D69V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.005 145812 chr1 242013735 242013735 - ACAGGG EXO1 G5_L6insQG 0.001 0 0 0 1 0 0 0 0 0 0 0 145813 chr1 211452618 211452618 A G RCOR3 Nonsynonymous SNV N169S 0.004 0 0 0 5 0 0 0 0 0 0 0 8.768 145814 chr1 212245453 212245453 C G rs370526029 DTL Nonsynonymous SNV F40L 0.004 0 0 0 5 0 0 0 0 0 0 0 23.4 145815 chr9 140137786 140137786 G A rs760204112 TUBB4B Synonymous SNV T372T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.507 145816 chr1 24384021 24384021 T C MYOM3 Nonsynonymous SNV M1383V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 145817 chr1 205133077 205133077 A G DSTYK Nonsynonymous SNV I444T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 145818 chr19 643558 643558 G A FGF22 Nonsynonymous SNV R156Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.98 145819 chr9 140509243 140509243 A G rs141969601 ARRDC1 Nonsynonymous SNV Q343R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.716 145820 chr19 4689630 4689630 G C DPP9 Nonsynonymous SNV I567M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 145821 chr1 217622646 217622646 C T rs34341444 GPATCH2 Synonymous SNV T437T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 14.75 145822 chr1 247143289 247143289 G A rs755365570 ZNF670-ZNF695 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 145823 chr10 135044882 135044882 C T rs529391166 UTF1 Nonsynonymous SNV A321V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 145824 chr10 135051653 135051653 A G rs2240891 VENTX Nonsynonymous SNV M79V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 145825 chr1 247241975 247241975 G C ZNF670-ZNF695 0.001 0 0 0 1 0 0 0 0 0 0 0 5.907 145826 chr22 38478793 38478793 C T rs113748161 SLC16A8 Nonsynonymous SNV G30S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 145827 chr1 156949074 156949074 T C ARHGEF11 Nonsynonymous SNV N93S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 145828 chr1 209768356 209768356 A G rs138495087 CAMK1G Nonsynonymous SNV S10G 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 15.89 145829 chr22 40030640 40030640 C T CACNA1I Synonymous SNV F217F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.74 145830 chr1 2491306 2491306 G A rs2234163 TNFRSF14 Nonsynonymous SNV A117T 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 not provided 0.03 145831 chr10 124742921 124742921 T G rs143205805 PSTK Synonymous SNV P214P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.573 145832 chr1 26527509 26527509 G A rs188627777 CATSPER4 Synonymous SNV K392K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 145833 chr19 48801278 48801278 G A rs148823991 CCDC114 Nonsynonymous SNV P457L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.573 145834 chr10 21962290 21962290 G C MLLT10 Nonsynonymous SNV G355R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 145835 chr1 2704142 2704142 C T TTC34 Synonymous SNV L586L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.125 145836 chr19 49377825 49377825 T C rs769283098 PPP1R15A Synonymous SNV D445D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 145837 chr1 225548412 225548412 T C DNAH14 Nonsynonymous SNV F3936L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.4 145838 chr1 225609874 225609874 G A rs201003932 LBR Nonsynonymous SNV P91S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.18 145839 chr1 159799703 159799703 G A rs115535212 SLAMF8 Nonsynonymous SNV G30R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 145840 chr1 159810949 159810949 G A rs369258610 SNHG28 0 0.005 0.003 0 0 2 0 1 0 0 0 0 2.655 145841 chr19 8997508 8997508 A G MUC16 Synonymous SNV T13638T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.004 145842 chr19 8997534 8997534 C - MUC16 A13630Pfs*60 0.001 0 0 1 1 0 0.003 0 0 0 0 0 145843 chr19 8997535 8997535 A G MUC16 Synonymous SNV A13629A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 145844 chr10 29747287 29747287 C T rs762590177 SVIL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.021 145845 chr1 22160066 22160066 G A rs201054150 HSPG2 Synonymous SNV N3625N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.74 145846 chr1 22181841 22181841 C T rs377309837 HSPG2 Nonsynonymous SNV A1986T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 145847 chr19 50128205 50128205 C T PRR12 Synonymous SNV R1942R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.13 145848 chr10 32560982 32560982 G A rs763223458 EPC1 Synonymous SNV I659I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 145849 chr1 223176176 223176176 C T rs560069156 DISP1 Synonymous SNV D479D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.28 145850 chr19 9002637 9002637 A G rs780987912 MUC16 Synonymous SNV A13393A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.006 145851 chr1 223971861 223971861 G A rs199572474 TP53BP2 Nonsynonymous SNV R1107C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 145852 chr19 50979529 50979529 T G FAM71E1 Synonymous SNV T39T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.452 145853 chr1 23111538 23111538 C T rs778010315 EPHB2 Synonymous SNV F260F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 145854 chr1 16577343 16577343 C T rs201129799 FBXO42 Nonsynonymous SNV R659Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 145855 chr10 46999390 46999390 A G rs202099535 GPRIN2 Synonymous SNV A170A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.074 145856 chr10 28971221 28971221 G C rs148416941 BAMBI Nonsynonymous SNV C225S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 145857 chr1 169511107 169511107 T C rs200269019 F5 Nonsynonymous SNV N1074S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.07 145858 chr1 32671867 32671867 G A rs753155901 IQCC Nonsynonymous SNV G132D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 145859 chr1 36932282 36932282 G A rs763256285 CSF3R Synonymous SNV L729L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.05 145860 chr1 33161523 33161523 A C rs758466256 SYNC Nonsynonymous SNV L59R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 145861 chr1 170010897 170010897 C T rs537407535 KIFAP3 Synonymous SNV S2S 0 0.005 0 2 0 2 0.005 0 0 0 0 0 11.41 145862 chr19 52496349 52496349 G T rs781535640 ZNF615 Nonsynonymous SNV F665L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 145863 chr22 51169504 51169504 C A rs749130556 SHANK3 Nonsynonymous SNV P1715T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.85 145864 chr10 43977227 43977227 G A rs562269414 ZNF487 Nonsynonymous SNV V165I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.256 145865 chr1 228566448 228566448 G A rs367560789 OBSCN Synonymous SNV K7953K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 145866 chr1 241672083 241672083 G A FH Synonymous SNV S186S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 145867 chr10 5948526 5948526 G A rs779474513 FBH1 Synonymous SNV P154P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.79 145868 chr2 102031324 102031324 T G rs6753088 RFX8 Nonsynonymous SNV M185L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 145869 chr19 53453880 53453880 G A rs138017999 ZNF816 Nonsynonymous SNV S383F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.15 145870 chr2 102626148 102626148 C A rs2230400 IL1R2 Synonymous SNV R64R 0.014 0.01 0.02 4 17 4 0.01 6 0 0 0 0 9.872 145871 chr1 229771845 229771845 C T rs200963931 URB2 Synonymous SNV S495S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.129 145872 chr2 102791960 102791960 C T rs113665542 IL1R1 Synonymous SNV D242D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.91 145873 chr10 61718447 61718447 A T rs200484770 LINC01553 0 0 0.007 0 0 0 0 2 0 0 0 0 0.126 145874 chr1 230907799 230907799 C T rs28359655 CAPN9 Nonsynonymous SNV R214W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 35 145875 chr1 100459103 100459103 A G rs944438639 SLC35A3 Nonsynonymous SNV D40G 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.22 145876 chr1 10521697 10521697 C T rs41301975 DFFA Synonymous SNV T282T 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 12.9 145877 chr1 45294261 45294261 C T rs147284320 PTCH2 Nonsynonymous SNV V503I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.435 145878 chr1 247836027 247836027 C G rs569895657 OR13G1 Nonsynonymous SNV G106A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.4 145879 chr2 11758601 11758601 C T rs529617459 GREB1 Synonymous SNV P1200P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.979 145880 chr1 240286524 240286524 C A rs772078312 FMN2 Nonsynonymous SNV P554H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 145881 chr10 70178932 70178932 C T rs200956547 DNA2 Synonymous SNV P942P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 19.16 145882 chr10 75013739 75013739 A G rs146234051 CFAP70 Synonymous SNV S928S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 145883 chr10 75415609 75415609 C A rs113166136 SYNPO2L Synonymous SNV G24G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 145884 chr1 19166140 19166140 C T rs142928740 TAS1R2 Nonsynonymous SNV A825T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 145885 chr2 128522189 128522189 T C rs62621432 WDR33 Nonsynonymous SNV Y280C 0.007 0.005 0.007 3 8 2 0.008 2 0 0 0 0 14.51 145886 chr2 12858496 12858496 C T rs747242699 TRIB2 Synonymous SNV T21T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.63 145887 chr10 71977607 71977607 C T rs150314887 PPA1 Synonymous SNV P86P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 16.35 145888 chr10 84745042 84745042 G C NRG3 Nonsynonymous SNV G591A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 145889 chr10 88213471 88213471 T C rs374548952 WAPL Synonymous SNV A919A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.563 145890 chr1 247065837 247065837 G A rs138732353 AHCTF1 Synonymous SNV G369G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 145891 chr1 26349709 26349709 G C EXTL1 Nonsynonymous SNV R191P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 145892 chr10 73827378 73827378 C T rs144321258 SPOCK2 Synonymous SNV P234P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 12.71 145893 chr1 26608843 26608843 C A rs6667693 UBXN11 Nonsynonymous SNV G384C 0.004 0 0 0 5 0 0 0 2 0 0 0 22.5 145894 chr1 26608854 26608883 CCGGGACCGGGACCGGGACTGGGGCCGGGA - rs758272984 UBXN11 G372_P381del 0.003 0 0 0 4 0 0 0 1 0 0 0 145895 chr10 76855416 76855416 G A rs61737439 DUSP13 Nonsynonymous SNV A154V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 26.2 145896 chr10 96163049 96163049 T A rs540236850 TBC1D12 Nonsynonymous SNV C227S 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 0.007 145897 chr1 203144866 203144866 G C rs76101141 MYBPH Synonymous SNV T6T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.39 145898 chr10 87487669 87487669 G A rs149876378 GRID1 Synonymous SNV Y492Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.291 145899 chr1 12017961 12017961 C T rs140758113 PLOD1 Synonymous SNV T268T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.44 145900 chr1 31454163 31454163 G A PUM1 Synonymous SNV H416H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.141 145901 chr1 204937931 204937931 C T rs777027249 NFASC Nonsynonymous SNV T286I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.6 145902 chr10 90574347 90574347 G A rs200508607 LIPM Synonymous SNV T175T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.38 145903 chr1 1229538 1229538 C T rs148138514 ACAP3 Synonymous SNV A727A 0.014 0.01 0.003 3 16 4 0.008 1 0 0 0 0 15.99 145904 chr1 206325253 206325253 G A rs141251493 CTSE Nonsynonymous SNV V85M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 145905 chr1 20659319 20659319 A G rs199681702 VWA5B1 Nonsynonymous SNV I545V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.038 145906 chr1 70504556 70504556 G A rs371826605 LRRC7 Nonsynonymous SNV E1018K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 145907 chr2 165557117 165557117 G A rs368358426 COBLL1 Nonsynonymous SNV P459S 0.003 0.01 0 0 3 4 0 0 0 0 0 0 0.178 145908 chr1 6610478 6610478 C G rs139037332 NOL9 Nonsynonymous SNV L198F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.45 145909 chr2 167298015 167298015 C T rs116825611 SCN7A Nonsynonymous SNV R683Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 33 145910 chr19 5914485 5914485 T C rs144738378 CAPS Nonsynonymous SNV I23T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 145911 chr1 79107145 79107145 G A rs750594906 IFI44L Nonsynonymous SNV G392D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.09 145912 chr19 6433549 6433549 G A rs758922861 SLC25A41 Synonymous SNV Y52Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.762 145913 chr19 6444277 6444277 G A rs113342059 SLC25A23 Synonymous SNV H369H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.5 145914 chr1 212799994 212799994 A T FAM71A Nonsynonymous SNV E592V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.92 145915 chr1 32050853 32050853 A G TINAGL1 Nonsynonymous SNV K289R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 145916 chr1 32671816 32671816 C A rs577645437 IQCC Nonsynonymous SNV A115E 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 27 145917 chr11 102220895 102220895 A G rs759871753 BIRC2 Nonsynonymous SNV K104E 0 0 0.007 0 0 0 0 2 0 0 0 0 21.9 145918 chr1 8616562 8616562 C T rs147116390 RERE Nonsynonymous SNV V233I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25 145919 chr1 86173774 86173774 C A rs148103860 ZNHIT6 Nonsynonymous SNV G65V 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 17.3 145920 chr10 102770304 102770304 - GGCTGT PDZD7 S780_R781insHS 0.001 0 0 0 1 0 0 0 0 0 0 0 145921 chr1 36563406 36563406 C A rs928614322 COL8A2 Nonsynonymous SNV V561L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.8 145922 chr1 36933522 36933522 C T rs966085298 CSF3R Nonsynonymous SNV G589S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.58 145923 chr1 154544311 154544311 G A CHRNB2 Nonsynonymous SNV V338I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.66 145924 chr10 108388979 108388979 G A rs139297932 SORCS1 Synonymous SNV V881V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 11.08 145925 chr1 155240635 155240635 C T rs140726494 CLK2 Nonsynonymous SNV R45H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 145926 chr1 41486194 41486194 G A rs150099949 SLFNL1 Nonsynonymous SNV H47Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.857 145927 chr1 227071429 227071429 C T rs139332886 PSEN2 Synonymous SNV D55D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.78 145928 chr1 916259 916259 T C rs775629837 PERM1 Nonsynonymous SNV S51G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.169 145929 chr1 228503686 228503686 A G rs199669912 OBSCN Nonsynonymous SNV E4384G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 145930 chr1 94497350 94497350 T C rs774010684 ABCA4 Nonsynonymous SNV K1371R 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 15.16 145931 chr1 230925937 230925937 T G rs143145032 CAPN9 0.001 0.003 0.007 2 1 1 0.005 2 0 0 1 0 24.4 145932 chr1 230928608 230928608 C T rs140602848 CAPN9 Nonsynonymous SNV R539W 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 145933 chr1 9324486 9324486 G A rs201573656 H6PD Nonsynonymous SNV R656Q 0.004 0 0 0 5 0 0 0 0 0 0 0 21.9 145934 chr1 156878483 156878483 G T rs764577624 PEAR1 Synonymous SNV P384P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 145935 chr1 157545400 157545400 C A FCRL4 Nonsynonymous SNV D488Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.385 145936 chr1 5934588 5934588 G A rs374354239 NPHP4 Synonymous SNV T546T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.31 145937 chr2 191840586 191840586 G T rs138723664 STAT1 Nonsynonymous SNV P696H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 22.8 145938 chr1 980552 980552 G A rs140764403 AGRN Nonsynonymous SNV A756T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 9.902 145939 chr1 981459 981459 C T rs147153797 AGRN Synonymous SNV N932N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 8.302 145940 chr1 62739919 62739919 G A rs72925715 KANK4 Nonsynonymous SNV P286L 0.003 0.016 0 1 4 6 0.003 0 0 0 0 0 Benign 23.8 145941 chr19 929844 929844 A G rs200325004 ARID3A Nonsynonymous SNV R106G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.662 145942 chr20 17639336 17639336 T C rs774569261 RRBP1, RRBP1 Nonsynonymous SNV Q606R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 145943 chr20 17968871 17968871 C T rs76599088 MGME1 Nonsynonymous SNV T185I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.6 145944 chr11 13375867 13375867 G C rs766991958 ARNTL Nonsynonymous SNV Q4H 0 0 0 2 0 0 0.005 0 0 0 0 0 27.7 145945 chr1 100154778 100154778 G T rs200604804 PALMD Nonsynonymous SNV S321I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.521 145946 chr2 204058625 204058625 T G rs180771101 NBEAL1 Nonsynonymous SNV F2314L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 29 145947 chr1 101198051 101198051 T C VCAM1 Synonymous SNV L443L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.604 145948 chr2 204281758 204281758 T C rs140922536 ABI2 Synonymous SNV Y328Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.773 145949 chr20 21492882 21492882 G A rs751627982 NKX2-2 Synonymous SNV L167L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 145950 chr1 55273225 55273225 C T rs766179749 LEXM Synonymous SNV S73S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.727 145951 chr1 16093909 16093909 G A rs761195990 FBLIM1 Nonsynonymous SNV V97M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.019 145952 chr11 126136754 126136754 C A SRPRA Nonsynonymous SNV G169V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.02 145953 chr10 135207754 135207754 C G rs374714619 MTG1 Nonsynonymous SNV S10R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 6.167 145954 chr20 21377051 21377051 G A rs370549869 NKX2-4 Nonsynonymous SNV P188L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 145955 chr20 23028686 23028686 C A rs41348347 THBD Nonsynonymous SNV D486Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 6.119 145956 chr20 23345589 23345589 A G rs3810574 GZF1 Nonsynonymous SNV N190S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.596 145957 chr20 23345669 23345669 C A rs541736431 GZF1 Nonsynonymous SNV P217T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.5 145958 chr2 21229039 21229039 C T rs12713558 APOB Synonymous SNV T3567T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.793 145959 chr2 21235375 21235375 G A rs12720847 APOB Synonymous SNV F1455F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 11.07 145960 chr2 21238007 21238007 G T rs61736761 APOB Nonsynonymous SNV L1212M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.61 145961 chr2 21249682 21249682 G T rs12714192 APOB Nonsynonymous SNV T741N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 145962 chr2 21260934 21260934 G A rs6752026 APOB Nonsynonymous SNV P145S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 145963 chr20 33297994 33297994 C T rs768036317 TP53INP2 Synonymous SNV H182H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.05 145964 chr20 33583233 33583233 G A rs772131421 MYH7B Nonsynonymous SNV R974Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 145965 chr20 34451162 34451162 C T rs79291837 PHF20 Synonymous SNV N216N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.04 145966 chr11 17573568 17573568 G A rs764706873 OTOG Nonsynonymous SNV V92M 0.004 0 0.003 0 5 0 0 1 0 0 0 0 2.6 145967 chr2 216286859 216286859 T G FN1 Nonsynonymous SNV N501H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.4 145968 chr11 33631378 33631378 C T rs774781780 KIAA1549L Synonymous SNV Y1715Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 8.154 145969 chr1 248129020 248129020 C T rs41308168 OR2AK2 Synonymous SNV L129L 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 8.509 145970 chr11 870486 870486 G C CHID1 Nonsynonymous SNV L294V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 145971 chr1 248202211 248202211 A G rs56102617 OR2L2 Synonymous SNV A214A 0.01 0.003 0.007 0 12 1 0 2 0 0 0 0 0.213 145972 chr1 248202355 248202355 A G rs534921378 OR2L2 Synonymous SNV R262R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.489 145973 chr1 170115300 170115300 G C rs138142057 METTL11B Nonsynonymous SNV D18H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 26.7 145974 chr11 18309087 18309087 A T rs201313717 HPS5 Nonsynonymous SNV D790E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 145975 chr2 219513527 219513527 G A rs749099820 ZNF142 Synonymous SNV G368G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.306 145976 chr2 219878668 219878668 T C rs148224341 CFAP65 Nonsynonymous SNV D1234G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.6 145977 chr1 9165632 9165632 G A rs377254004 GPR157 Synonymous SNV I235I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.77 145978 chr20 33587136 33587136 C T rs770251133 MYH7B Nonsynonymous SNV R1532W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 145979 chr11 45945771 45945771 C T rs145890713 LARGE2 Synonymous SNV F145F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.22 145980 chr2 220101974 220101974 A G rs61733623 GLB1L Synonymous SNV P505P 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 2.358 145981 chr11 45948314 45948314 G A rs531591286 LARGE2 Nonsynonymous SNV R406Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 145982 chr1 17326747 17326747 C T ATP13A2 Nonsynonymous SNV G296R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 145983 chr1 249152364 249152364 G A rs144302716 ZNF692 Synonymous SNV L54L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.91 145984 chr11 22646810 22646810 C T rs774728053 FANCF Nonsynonymous SNV E183K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.3 145985 chr1 86822246 86822246 G A rs114962597 ODF2L Nonsynonymous SNV R307C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 145986 chr1 94543321 94543321 G A rs764364208 ABCA4 Synonymous SNV D493D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.003 145987 chr1 1269004 1269004 C T rs140035477 TAS1R3 Synonymous SNV L573L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 5.892 145988 chr1 27120626 27120626 C T rs139246652 PIGV Nonsynonymous SNV P34L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 27.5 145989 chr1 27332547 27332547 G T TENT5B Nonsynonymous SNV A389D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 145990 chr1 27682201 27682201 G A rs76570472 MAP3K6 Synonymous SNV L1241L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 12.18 145991 chr1 27687248 27687248 G C rs55869163 MAP3K6 Nonsynonymous SNV R660G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.2 145992 chr11 1029317 1029317 G C rs769103700 MUC6 Nonsynonymous SNV H396D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.715 145993 chr20 51871733 51871733 C G rs750010415 TSHZ2 Nonsynonymous SNV A576G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 145994 chr2 230579019 230579019 G A rs374274039 DNER Nonsynonymous SNV P41S 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 20.4 145995 chr1 32090619 32090619 A C HCRTR1 Nonsynonymous SNV Q329H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.74 145996 chr20 55088454 55088454 G A RTF2 Synonymous SNV E187E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.06 145997 chr1 33502381 33502381 G C rs138577419 AK2 Nonsynonymous SNV R17G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 33 145998 chr1 33777674 33777674 A C rs143165857 A3GALT2 Nonsynonymous SNV L105R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 145999 chr1 33777675 33777675 G C rs146764026 A3GALT2 Nonsynonymous SNV L105V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 146000 chr20 44757523 44757523 C T CD40 Synonymous SNV A174A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.524 146001 chr20 46279879 46279887 CAGCAACAG - rs774186198 NCOA3 Q1273_Q1275del 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 146002 chr20 47269981 47269981 T C rs373710294 PREX1 Nonsynonymous SNV N755S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 146003 chr11 1769077 1769077 G A IFITM10 Synonymous SNV A119A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.618 146004 chr1 980875 980875 C T rs148864199 AGRN Synonymous SNV I836I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.57 146005 chr11 45891883 45891883 G A rs760645481 CRY2 Nonsynonymous SNV R389Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 146006 chr20 6033358 6033358 C T rs202129771 LRRN4 Nonsynonymous SNV V30I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.471 146007 chr1 152748998 152748998 - GCTGTGGCTCCAGCTCTGGGGGAA rs751279139 LCE1F G58_C59insSCGSSSGG 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 146008 chr11 2320774 2320774 C T rs187379934 C11orf21 Nonsynonymous SNV R104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.621 146009 chr11 2320922 2320922 T C rs533487825 C11orf21 Nonsynonymous SNV M55V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 146010 chr1 36786363 36786363 T C SH3D21 Nonsynonymous SNV L589P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 146011 chr1 3754043 3754043 C T rs140022279 CEP104 Nonsynonymous SNV R311H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 6.321 146012 chr20 60908497 60908497 G A rs140927746 LAMA5 Nonsynonymous SNV A1021V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 27.1 146013 chr1 38341361 38341361 G A rs759049604 INPP5B Nonsynonymous SNV R405W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 146014 chr2 239162044 239162044 C T rs759548389 PER2 Nonsynonymous SNV A874T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.201 146015 chr1 39790369 39790369 A G rs768457783 MACF1 Nonsynonymous SNV K1486E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.45 146016 chr1 19712049 19712049 C T rs750822077 CAPZB Synonymous SNV V55V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.88 146017 chr20 61981239 61981239 G A rs56069517 CHRNA4 Synonymous SNV G508G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 0.948 146018 chr20 62038551 62038551 T G rs201701585 KCNQ2 Nonsynonymous SNV I661L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.769 146019 chr20 58467146 58467146 C T SYCP2 Nonsynonymous SNV D755N 0.003 0 0 0 4 0 0 0 0 0 0 0 15.32 146020 chr2 242139537 242139537 G A rs373524213 ANO7 Nonsynonymous SNV G151S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.006 146021 chr20 23065346 23065346 G A rs375813302 CD93 Nonsynonymous SNV P495L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.1 146022 chr20 31598915 31598915 G A rs140851215 BPIFB2 Synonymous SNV Q65Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 2.194 146023 chr2 242432420 242432420 A G rs769768522 FARP2 Nonsynonymous SNV N955S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 146024 chr20 31894770 31894770 G A rs142612737 BPIFB1 Nonsynonymous SNV A458T 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 6.35 146025 chr20 33297190 33297190 A T rs756185901 TP53INP2 Nonsynonymous SNV Q92L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 27.1 146026 chr20 334151 334151 G A rs141235226 NRSN2 Nonsynonymous SNV G163R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 146027 chr20 8769363 8769363 T C PLCB1 Nonsynonymous SNV M1091T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 146028 chr1 47150217 47150217 T C rs759848365 EFCAB14 Nonsynonymous SNV S378G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.9 146029 chr20 35635920 35635920 G C rs766686618 RBL1 Nonsynonymous SNV P495R 0.004 0 0 0 5 0 0 0 0 0 0 0 23.6 146030 chr1 204966448 204966448 C T rs777509759 NFASC Nonsynonymous SNV A978V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 22.9 146031 chr11 5263299 5263320 CATAGGTACAAACATAGTGGAC - rs113355107 HBBP1 0 0 0.051 0 0 0 0 15 0 0 0 0 146032 chr2 27599497 27599497 C T rs754654764 SNX17 Nonsynonymous SNV R417W 0 0.005 0 0 0 2 0 0 0 0 0 0 34 146033 chr20 37169834 37169834 T C rs370343635 RALGAPB Nonsynonymous SNV C905R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.4 146034 chr20 33711811 33711811 G A rs776359241 EDEM2, MMP24-AS1-EDEM2 Synonymous SNV A295A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 146035 chr11 58294931 58294931 A T LPXN Nonsynonymous SNV L366Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 146036 chr20 34219620 34219620 G A rs147778789 CPNE1 Nonsynonymous SNV T206I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 146037 chr1 208390654 208390654 C T rs149833033 PLXNA2 Nonsynonymous SNV R205Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 146038 chr20 62669353 62669353 C T rs959039292 C20orf204 Nonsynonymous SNV P26L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.381 146039 chr20 62680123 62680123 G T SOX18 Nonsynonymous SNV P184H 0.003 0 0 0 4 0 0 0 0 0 0 0 22.3 146040 chr1 209803207 209803207 T C rs759558086 LAMB3 Nonsynonymous SNV Q336R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.51 146041 chr1 56989990 56989990 G T rs200887319 PLPP3 Nonsynonymous SNV N178K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 146042 chr11 60671295 60671295 C T PRPF19 Nonsynonymous SNV V20I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 146043 chr1 167830140 167830140 T A ADCY10 Nonsynonymous SNV Y440F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.45 146044 chr1 215987093 215987093 C T rs373965999 USH2A Nonsynonymous SNV A3242T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.73 146045 chr11 56086299 56086299 G A rs12291617 OR8K3 Nonsynonymous SNV V173I 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.771 146046 chr21 33697576 33697576 G A rs187640762 URB1 Nonsynonymous SNV S1695L 0.006 0.008 0 0 7 3 0 0 0 0 0 0 30 146047 chr21 33719825 33719825 G A URB1 Nonsynonymous SNV P1103L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.86 146048 chr20 44469380 44469380 C T rs140821655 SNX21 Nonsynonymous SNV R184W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 32 146049 chr1 6681475 6681475 C T rs772774702 PHF13 Synonymous SNV D227D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 146050 chr21 43531013 43531013 G A rs749140004 UMODL1 Nonsynonymous SNV G561S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.689 146051 chr1 222791555 222791555 C T rs572466037 MIA3 Nonsynonymous SNV H35Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.003 146052 chr2 55096321 55096321 T C rs55797267 EML6 Synonymous SNV Y685Y 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 0.563 146053 chr2 55096396 55096396 T C rs56101319 EML6 Synonymous SNV A710A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 2.998 146054 chr1 8390862 8390862 G T SLC45A1 Nonsynonymous SNV V437L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 146055 chr20 53205120 53205120 T A rs368190048 DOK5 Synonymous SNV T91T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 146056 chr11 57080021 57080021 C T rs34203865 TNKS1BP1 Nonsynonymous SNV S714N 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 20.9 146057 chr1 228401183 228401183 G C rs569727649 OBSCN Nonsynonymous SNV V344L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 24.9 146058 chr11 16805258 16805258 G A PLEKHA7 Synonymous SNV L1213L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 146059 chr2 74327675 74327675 A G rs202228884 TET3 Nonsynonymous SNV M1161V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 1.685 146060 chr20 61879097 61879097 G A rs987782647 NKAIN4 Nonsynonymous SNV R40W 0.003 0 0 0 4 0 0 0 0 0 0 0 17.31 146061 chr1 9097834 9097834 C T rs775472970 SLC2A5 Synonymous SNV P292P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 146062 chr20 60902673 60902673 A C LAMA5 Nonsynonymous SNV L1617R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 146063 chr1 186328958 186328958 T C rs201691804 TPR Synonymous SNV L454L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.757 146064 chr11 60620368 60620368 C G rs555379299 PTGDR2 Synonymous SNV P276P 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.909 146065 chr1 2337992 2337992 C T rs35082957 PEX10 Synonymous SNV R281R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.99 146066 chr1 233807068 233807068 G A rs34957762 KCNK1 Nonsynonymous SNV C268Y 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 15.24 146067 chr20 61525801 61525801 C T rs753379121 DIDO1 Nonsynonymous SNV A846T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 25.5 146068 chr20 62045492 62045492 A G KCNQ2 Nonsynonymous SNV F499S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 146069 chr1 97771795 97771795 A G DPYD Nonsynonymous SNV F706S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 146070 chr1 197157461 197157461 G T rs146939360 ZBTB41 Synonymous SNV R503R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.01 146071 chr21 16337661 16337661 C T rs2228508 NRIP1 Synonymous SNV P951P 0.006 0 0.003 0 7 0 0 1 0 0 0 0 Benign 12.67 146072 chr2 98373739 98373739 C A rs370335477 TMEM131 Synonymous SNV T1825T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.72 146073 chr22 19175497 19175497 T C rs782208856 CLTCL1 Nonsynonymous SNV Y1477C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.8 146074 chr21 28296646 28296646 G A ADAMTS5 Nonsynonymous SNV T840I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 146075 chr11 78516407 78516407 G A rs73498549 TENM4 Synonymous SNV H703H 0.007 0.01 0.01 2 8 4 0.005 3 0 0 0 0 9.752 146076 chr22 20074699 20074699 C T rs7291552 DGCR8 Synonymous SNV N245N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 15.9 146077 chr1 201174268 201174268 C T rs201805154 IGFN1 Synonymous SNV D325D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.319 146078 chr20 62701926 62701926 G A rs1025514223 TCEA2 Nonsynonymous SNV G253S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 146079 chr1 201177714 201177714 C A rs182105982 IGFN1 Synonymous SNV A1231A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.275 146080 chr20 62859313 62859313 C T rs61746507 MYT1 Synonymous SNV P888P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.71 146081 chr11 43904691 43904691 G C rs190547700 ALKBH3 Nonsynonymous SNV E46Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 17.65 146082 chr11 63531916 63531918 CTC - C11orf95 E393del 0 0 0.003 0 0 0 0 1 0 0 0 0 146083 chr11 86947697 86947697 C T rs372317079 TMEM135 Synonymous SNV I138I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.32 146084 chr1 201180820 201180820 G A rs181647340 IGFN1 Nonsynonymous SNV D2267N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 146085 chr21 34042661 34042661 T G SYNJ1 Nonsynonymous SNV D578A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.6 146086 chr11 64135976 64135976 C T rs772065473 RPS6KA4 Nonsynonymous SNV R407W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 146087 chr21 34927452 34927452 G A SON Nonsynonymous SNV R1972H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 146088 chr1 24483741 24483741 T C IFNLR1 Nonsynonymous SNV E481G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 146089 chr1 202572235 202572235 G A rs141305662 SYT2 Synonymous SNV D119D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 4.145 146090 chr1 202777377 202777377 G A rs778412398 KDM5B Synonymous SNV G19G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.82 146091 chr1 202977834 202977834 G A TMEM183A Nonsynonymous SNV G58D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 146092 chr3 113010478 113010478 G A rs1009715002 CFAP44 Nonsynonymous SNV R1831C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.9 146093 chr11 65271770 65271772 TTG - rs559769337 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 146094 chr3 113023920 113023920 T C rs191802371 CFAP44 Nonsynonymous SNV N1613S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26 146095 chr1 247464479 247464479 G A rs777888227 ZNF496 Nonsynonymous SNV P369L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 146096 chr22 32555097 32555097 C T rs748092756 C22orf42 Nonsynonymous SNV V36M 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 22 146097 chr1 204379553 204379553 G A rs767849759 PPP1R15B Synonymous SNV H329H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.356 146098 chr22 28389379 28389379 C T rs200365104 TTC28 Nonsynonymous SNV R1791Q 0.006 0.003 0.01 2 7 1 0.005 3 0 0 0 0 Likely benign 32 146099 chr20 2593892 2593892 T C TMC2 Nonsynonymous SNV L599P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 146100 chr22 29120966 29120966 T - rs587782245 CHEK2 V198Ffs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 146101 chr22 29191174 29191174 T C XBP1 Nonsynonymous SNV I374V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 146102 chr21 43254632 43254632 G A PRDM15 Nonsynonymous SNV R507W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.7 146103 chr22 29196385 29196385 T G XBP1 Nonsynonymous SNV Q43P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.046 146104 chr1 205499397 205499397 A C rs747194480 CDK18 Nonsynonymous SNV K411T 0.003 0 0 0 4 0 0 0 0 0 0 0 21 146105 chr22 29876278 29876278 G A rs745632920 NEFH Synonymous SNV A9A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 146106 chr3 121217496 121217496 A C rs142537679 POLQ Nonsynonymous SNV W661G 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 27.2 146107 chr21 43547882 43547882 G A rs781132814 UMODL1 Nonsynonymous SNV V1267I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 146108 chr11 6651546 6651546 C T rs112937871 DCHS1 Synonymous SNV G1493G 0.009 0 0.014 2 10 0 0.005 4 0 0 0 0 15.02 146109 chr11 6652603 6652603 C T rs112445976 DCHS1 Synonymous SNV T1237T 0.011 0 0.014 2 13 0 0.005 4 0 0 0 0 2.096 146110 chr1 207085260 207085260 A T FCMR Synonymous SNV V63V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.002 146111 chr22 38468588 38468588 G A rs974961347 PICK1 Nonsynonymous SNV G221S 0 0.003 0 0 0 1 0 0 0 0 0 0 26 146112 chr1 207195561 207195561 G A rs34185174 C1orf116 Synonymous SNV D270D 0.005 0 0.007 5 6 0 0.013 2 0 0 0 0 5.401 146113 chr1 207513869 207513869 C T rs149088550 CD55 Synonymous SNV H405H 0.006 0 0 4 7 0 0.01 0 0 0 0 0 1.766 146114 chr11 6735874 6735874 G C GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.525 146115 chr22 32616985 32616985 G A rs139861447 SLC5A4 Nonsynonymous SNV R564W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 146116 chr21 42866297 42866297 G A rs61735793 TMPRSS2 Nonsynonymous SNV T112I 0.009 0 0.003 0 10 0 0 1 0 0 0 0 Benign 4.784 146117 chr21 45540354 45540354 C T rs775737812 LOC102724159, PWP2 Synonymous SNV T438T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.13 146118 chr11 68207247 68207247 A T LRP5 Nonsynonymous SNV I870F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 146119 chr20 36639978 36639978 T C rs142565812 TTI1 Synonymous SNV Q747Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.199 146120 chr20 36855621 36855621 G A rs139376869 KIAA1755 Nonsynonymous SNV R663W 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 22.5 146121 chr1 24995631 24995631 C T rs139001382 SRRM1 Nonsynonymous SNV P501L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.2 146122 chr1 2519810 2519810 C T rs78426182 PRXL2B Nonsynonymous SNV A119V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.444 146123 chr22 42607338 42607338 C T rs17002888 TCF20 Nonsynonymous SNV S1325N 0.007 0.018 0.007 1 8 7 0.003 2 0 0 0 0 Benign 0.422 146124 chr22 42608044 42608044 A G rs149917963 TCF20 Nonsynonymous SNV Y1090H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 146125 chr3 124053259 124053259 C T rs147539685 KALRN Nonsynonymous SNV R520W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 146126 chr11 118918523 118918523 G A rs61902088 HYOU1 Nonsynonymous SNV R840W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 32 146127 chr1 26356156 26356156 G A rs141225406 EXTL1 Stop gain W313X 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 39 146128 chr22 43275116 43275116 G A rs202136600 PACSIN2 Synonymous SNV D322D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.99 146129 chr20 39831407 39831407 A G rs149945568 ZHX3 Nonsynonymous SNV L717S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 146130 chr1 26610659 26610659 G A rs753768406 UBXN11 Nonsynonymous SNV R231W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 146131 chr20 42169589 42169589 G A rs76363655 L3MBTL1 Nonsynonymous SNV V714M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.899 146132 chr20 42320868 42320868 G A rs79958576 MYBL2 Nonsynonymous SNV S167N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.081 146133 chr1 214815418 214815418 A - CENPF T1247Pfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 146134 chr1 27627931 27627931 C T WDTC1 Nonsynonymous SNV L483F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 146135 chr11 71948835 71948837 GAG - rs777012152 INPPL1 E1184del 0 0 0.003 0 0 0 0 1 0 0 0 0 146136 chr22 44527414 44527414 G A rs183013426 PARVB Nonsynonymous SNV E105K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 146137 chr22 38308428 38308428 G C rs147713622 MICALL1 Nonsynonymous SNV S89T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.1 146138 chr11 73070896 73070896 A C ARHGEF17 Nonsynonymous SNV N1369H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 146139 chr22 39041588 39041588 C T rs780905776 FAM227A Nonsynonymous SNV E69K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.267 146140 chr22 39146336 39146336 C T rs774550032 SUN2 Synonymous SNV S159S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.86 146141 chr22 46652823 46652823 C T rs142828305 PKDREJ Nonsynonymous SNV V2133I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 146142 chr20 44755376 44755376 G C rs41282788 CD40 Nonsynonymous SNV G199R 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 0.681 146143 chr11 124056149 124056149 C G OR10D3 Nonsynonymous SNV P58R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.6 146144 chr1 34174789 34174789 T C rs147142769 CSMD2 Nonsynonymous SNV N1159S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.366 146145 chr22 43533305 43533305 C A MCAT 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 146146 chr1 34208996 34208996 G T rs74349751 CSMD2 Synonymous SNV G686G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.835 146147 chr1 224468825 224468825 C T NVL Nonsynonymous SNV M465I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 146148 chr3 132441095 132441095 C T rs377060857 NPHP3 Synonymous SNV K35K 0 0.008 0.007 1 0 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.947 146149 chr1 34677815 34677815 T C rs61741807 C1orf94 Nonsynonymous SNV M510T 0.003 0.008 0.02 1 3 3 0.003 6 1 0 0 0 0.002 146150 chr22 44127679 44127680 GT - EFCAB6 H67Lfs*22 0.003 0 0 0 4 0 0 0 0 0 0 0 146151 chr11 793615 793615 A C rs527440140 SLC25A22 Synonymous SNV A69A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.322 146152 chr3 136035804 136035804 T G rs748708704 PCCB Nonsynonymous SNV F330V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.8 146153 chr21 47981688 47981688 G A rs748010633 DIP2A Synonymous SNV P1349P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 146154 chr22 45726600 45726600 C T rs150737794 FAM118A Synonymous SNV D139D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.46 146155 chr3 139062918 139062918 C G MRPS22 Nonsynonymous SNV S17C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.08 146156 chr22 46708180 46708180 G A rs148976139 GTSE1 Nonsynonymous SNV R302Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 146157 chr22 46780573 46780573 G A rs147996421 CELSR1 Synonymous SNV V2250V 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 4.213 146158 chr11 85779721 85779721 G C rs146840505 PICALM Nonsynonymous SNV I34M 0 0 0.003 3 0 0 0.008 1 0 0 0 0 11.89 146159 chr22 46804914 46804914 C T rs901222829 CELSR1 Synonymous SNV G1735G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.829 146160 chr3 142279235 142279235 C G rs371350410 ATR Nonsynonymous SNV E471Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 146161 chr22 50439273 50439273 C T rs753810602 IL17REL Synonymous SNV E100E 0.005 0 0.003 0 6 0 0 1 0 0 0 0 10.02 146162 chr1 228522977 228522977 C T rs762980557 OBSCN Synonymous SNV S5461S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.02 146163 chr22 50616404 50616404 C G rs781516056 PANX2 Synonymous SNV P421P 0.005 0 0.003 0 6 0 0 1 0 0 0 0 11.61 146164 chr22 21119148 21119148 T C rs61752244 PI4KA Nonsynonymous SNV M867V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 15.35 146165 chr11 92577590 92577590 G A rs138237129 FAT3 Nonsynonymous SNV R3686H 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 0.026 146166 chr3 157146149 157146149 G A rs149345647 VEPH1 Nonsynonymous SNV R220W 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 146167 chr12 101018138 101018138 G A rs753510208 GAS2L3 Nonsynonymous SNV A519T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 146168 chr22 30866060 30866060 C T rs370195024 SEC14L3 Star tloss M60I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 146169 chr22 31534280 31534280 G A rs2232177 PLA2G3 Nonsynonymous SNV A255V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 22.9 146170 chr22 24906739 24906739 G A rs149187760 UPB1 Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.85 146171 chr12 7045901 7045912 CAGCAGCAGCAG - ATN1 Q499_Q502del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 146172 chr2 103061680 103061680 G A rs769808848 IL18RAP Nonsynonymous SNV E318K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.477 146173 chr12 104237815 104237815 T C rs141231003 TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.305 146174 chr12 105425638 105425638 C G rs149998378 ALDH1L2 Nonsynonymous SNV K773N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 146175 chr12 8212191 8212191 A C rs763686874 C3AR1 Synonymous SNV L197L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 146176 chr12 8212618 8212618 G C rs757000514 C3AR1 Nonsynonymous SNV T55R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 146177 chr1 51770762 51770762 T C rs185544961 TTC39A Synonymous SNV S216S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.428 146178 chr2 109388273 109388273 A G rs148596328 RANBP2 Nonsynonymous SNV T2656A 0.004 0 0 6 5 0 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 146179 chr3 171455451 171455451 - A rs71178233 PLD1 0 0.003 0 1 0 1 0.003 0 0 0 0 0 146180 chr12 107713564 107713564 G A BTBD11 Nonsynonymous SNV A283T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 146181 chr2 110883245 110883245 C T NPHP1 Nonsynonymous SNV G514E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 146182 chr22 30783093 30783093 G A rs755222576 RNF215 Synonymous SNV D70D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.78 146183 chr1 2411245 2411245 G A rs41315664 PLCH2 Nonsynonymous SNV S88N 0.002 0 0 0 2 0 0 0 0 0 0 0 2.471 146184 chr22 31285229 31285229 - G rs564483806 LOC107985544 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 146185 chr22 31479265 31479265 T G SMTN Synonymous SNV A61A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.02 146186 chr1 24384030 24384030 G A rs535152430 MYOM3 Stop gain R1380X 0.001 0 0 0 1 0 0 0 0 0 0 0 47 146187 chr12 110231773 110231773 T C rs115976458 TRPV4 Nonsynonymous SNV I409V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 9.716 146188 chr21 27425601 27425601 C G rs772020679 APP Nonsynonymous SNV R84T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.2 146189 chr1 55317918 55317918 G A rs757572977 DHCR24 Synonymous SNV A513A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.24 146190 chr21 28296509 28296509 C T ADAMTS5 Nonsynonymous SNV A886T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 146191 chr12 10954283 10954283 G C rs144773045 TAS2R7 Nonsynonymous SNV S296C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.336 146192 chr3 184039243 184039243 A G EIF4G1 Nonsynonymous SNV T95A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 146193 chr22 32841679 32841679 C T BPIFC Synonymous SNV L179L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 146194 chr12 112589820 112589820 C A rs373851260 TRAFD1 Synonymous SNV R499R 0 0 0.007 0 0 0 0 2 0 0 0 0 14.01 146195 chr1 247055223 247055224 TT - AHCTF1 0.001 0 0 0 1 0 0 0 0 0 0 0 146196 chr21 32410699 32410699 C T rs369023695 KRTAP19-8 Nonsynonymous SNV G22S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.86 146197 chr21 34003579 34003579 G C SYNJ1 Nonsynonymous SNV T1436S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 146198 chr3 189838320 189838320 C T rs529303797 P3H2 Synonymous SNV L67L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.08 146199 chr12 14766150 14766150 C G rs11056059 GUCY2C Synonymous SNV G1041G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 5.991 146200 chr12 14836017 14836017 C T rs7132892 GUCY2C Synonymous SNV S190S 0.001 0.003 0.014 2 1 1 0.005 4 0 0 1 0 10.08 146201 chr12 121161048 121161048 T G rs1055070 MIR4700 0 0 0.031 0 0 0 0 9 0 0 0 0 5.095 146202 chr12 18552594 18552594 C T rs61754413 PIK3C2G Nonsynonymous SNV L669F 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 31 146203 chr22 38201558 38201558 G A H1-0 Nonsynonymous SNV E3K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 146204 chr12 20893259 20893259 A G rs147735206 SLCO1C1 Nonsynonymous SNV T446A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 19.71 146205 chr12 20905279 20905279 G T rs111796962 SLCO1C1 Nonsynonymous SNV V569F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 146206 chr12 122750679 122750679 - C rs146100866 VPS33A Frameshift insertion A5Gfs*17 0 0 0.024 0 0 0 0 7 0 0 2 0 146207 chr12 26275368 26275368 G C rs776094709 BHLHE41 Synonymous SNV A360A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 10.24 146208 chr22 40815286 40815286 G A MRTFA Nonsynonymous SNV P386S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 146209 chr2 152321155 152321155 G A rs201978998 RIF1 Synonymous SNV S1707S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.563 146210 chr22 50502514 50502514 C A rs139336504 MLC1 Nonsynonymous SNV Q336H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.2 146211 chr21 43913103 43913103 G A rs923774042 RSPH1 Synonymous SNV S47S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 146212 chr1 25573151 25573151 T C rs148547903 RSRP1 Nonsynonymous SNV R102G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.99 146213 chr12 129360572 129360572 C T rs773025838 GLT1D1 Nonsynonymous SNV A61V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 146214 chr1 8073910 8073910 T A rs201248332 ERRFI1 Nonsynonymous SNV H250L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 146215 chr1 8074219 8074219 T C ERRFI1 Nonsynonymous SNV E147G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.68 146216 chr22 50719367 50719367 C A PLXNB2 Nonsynonymous SNV V1267L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.03 146217 chr21 45713715 45713715 C T rs72650677 AIRE Nonsynonymous SNV T441M 0 0.008 0 1 0 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.22 146218 chr11 66472509 66472509 G A rs555186039 SPTBN2 Synonymous SNV A746A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 12.32 146219 chr11 66834259 66834259 G A rs374114201 RHOD Nonsynonymous SNV V91I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.5 146220 chr12 41967059 41967059 C T PDZRN4 Synonymous SNV H568H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.81 146221 chr2 179664293 179664293 G A rs138060032 TTN Nonsynonymous SNV R279W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 146222 chr11 67223787 67223787 G A rs769103245 CABP4 Nonsynonymous SNV E34K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 12.55 146223 chr11 67258382 67258382 G A rs104894190 AIP Nonsynonymous SNV R245Q 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 146224 chr1 865567 865567 C T rs375780070 SAMD11 Synonymous SNV V35V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 15.32 146225 chr2 168107435 168107435 G A rs375622239 XIRP2 Nonsynonymous SNV R2956H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 146226 chr3 39229196 39229196 G T rs61736135 XIRP1 Nonsynonymous SNV P581T 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 Benign 0.002 146227 chr22 47133984 47133984 C T rs200137368 CERK Nonsynonymous SNV C21Y 0.009 0.008 0.003 6 10 3 0.015 1 0 0 0 0 4.951 146228 chr12 48919504 48919504 G A rs149245662 OR8S1 Synonymous SNV L30L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.183 146229 chr2 105858396 105858396 C T rs2576727 GPR45 Synonymous SNV T27T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.318 146230 chr1 32670336 32670336 T G rs202132074 CCDC28B Synonymous SNV P221P 0.003 0 0 0 3 0 0 0 0 0 0 0 5.649 146231 chr1 33408021 33408021 C T rs766001797 RNF19B Nonsynonymous SNV G481E 0.003 0 0 0 3 0 0 0 0 0 0 0 33 146232 chr12 21665247 21665247 T C rs148439968 GOLT1B Synonymous SNV V105V 0 0 0.01 0 0 0 0 3 0 0 0 0 0.006 146233 chr2 187529347 187529347 C T rs147413915 ITGAV Synonymous SNV I648I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 19.41 146234 chr21 47952044 47952044 C T rs765532031 DIP2A Nonsynonymous SNV A357V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 146235 chr12 49498284 49498284 T G rs35343771 LMBR1L Star tloss M70L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 146236 chr22 50657721 50657721 C T rs772982938 TUBGCP6 Nonsynonymous SNV A1494T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.25 146237 chr2 190640440 190640440 C - rs764688704 ORMDL1 M60Cfs*8 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 146238 chr2 190719704 190719704 G A rs138610933 PMS1 Nonsynonymous SNV R393Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 22.6 146239 chr22 19119620 19119620 G C rs138079700 TSSK2 Synonymous SNV P236P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.446 146240 chr1 92733511 92733511 A G rs149792649 GLMN Nonsynonymous SNV Y353H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 13.28 146241 chr22 20128417 20128417 T G rs141589913 ZDHHC8 Nonsynonymous SNV L259R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.9 146242 chr2 196738329 196738329 T C rs371848120 DNAH7 Nonsynonymous SNV I2126V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 26 146243 chr2 197540887 197540887 G A rs756944211 CCDC150 Synonymous SNV T54T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 9.876 146244 chr1 94485247 94485247 C T rs61750564 ABCA4 Nonsynonymous SNV S1696N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 29.9 146245 chr2 11810092 11810092 T C rs573640750 NTSR2 Nonsynonymous SNV H55R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.45 146246 chr2 201436427 201436427 A G rs370880356 SGO2 Nonsynonymous SNV N453S 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 0.001 146247 chr2 120003354 120003354 G C rs765275501 STEAP3 Nonsynonymous SNV E94D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 146248 chr2 100910789 100910789 T C LONRF2 Synonymous SNV P553P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.493 146249 chr12 52755265 52755265 C - KRT85 G227Afs*3 0 0.003 0 1 0 1 0.003 0 0 0 0 0 146250 chr2 120438838 120438838 G A rs114560189 TMEM177 Nonsynonymous SNV A137T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 0.014 146251 chr2 1241659 1241659 G C SNTG2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 146252 chr2 125660581 125660581 G A rs114400050 CNTNAP5 Nonsynonymous SNV A1187T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.07 146253 chr2 131520935 131520935 C T rs138397613 AMER3 Synonymous SNV S430S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.855 146254 chr22 25153958 25153958 T C PIWIL3 Nonsynonymous SNV Q91R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 146255 chr3 50326959 50326959 C A IFRD2 Nonsynonymous SNV G297V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 146256 chr3 50329729 50329729 G T rs368573441 IFRD2 Nonsynonymous SNV R57S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.91 146257 chr1 43896377 43896377 C T SZT2 Nonsynonymous SNV P1507L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 33 146258 chr2 136874246 136874246 G A CXCR4 Nonsynonymous SNV L10F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.849 146259 chr2 137814281 137814281 G T rs147127072 THSD7B Nonsynonymous SNV R144L 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 15.73 146260 chr22 28193860 28193860 C T MN1 Nonsynonymous SNV G891E 0 0.003 0 0 0 1 0 0 0 0 0 0 23 146261 chr1 44685836 44685836 G A DMAP1 Nonsynonymous SNV R400Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.6 146262 chr12 50744994 50744994 A G FAM186A Nonsynonymous SNV L1874P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 146263 chr22 30660146 30660146 G A rs750012343 OSM Nonsynonymous SNV T141M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.074 146264 chr22 31010416 31010416 C T rs200135085 TCN2 Nonsynonymous SNV R170W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 146265 chr12 51856177 51856177 G A SLC4A8 Synonymous SNV V395V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 146266 chr12 51868954 51868954 A G SLC4A8 Synonymous SNV L712L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.259 146267 chr1 52498754 52498754 C T rs374491748 KTI12 Nonsynonymous SNV R227Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 146268 chr11 106810495 106810495 A C rs61735485 GUCY1A2 Synonymous SNV T299T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 146269 chr2 219745748 219745748 C T WNT10A Nonsynonymous SNV R11W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 146270 chr20 21686391 21686391 T G PAX1 Nonsynonymous SNV V14G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.269 146271 chr1 53236791 53236791 G A rs371537009 ZYG11B Nonsynonymous SNV R99Q 0.003 0 0 0 3 0 0 0 0 0 0 0 19.63 146272 chr22 36872873 36872873 C T rs150502647 TXN2 Synonymous SNV P98P 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 15.49 146273 chr20 2397900 2397900 G A TGM6 Synonymous SNV V453V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 146274 chr2 131812931 131812931 G A rs574781509 FAM168B Nonsynonymous SNV T130M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.9 146275 chr2 220309664 220309664 C T rs200153486 SPEG Nonsynonymous SNV A199V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 146276 chr11 113130903 113130903 G A rs181774525 NCAM1 Synonymous SNV P653P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 11.76 146277 chr1 54671039 54671039 G A MRPL37 Nonsynonymous SNV R201K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 146278 chr22 37603326 37603326 C T rs35848389 SSTR3 Nonsynonymous SNV V173M 0 0.003 0 0 0 1 0 0 0 0 0 0 25 146279 chr20 30659584 30659584 C T rs138094245 HCK Nonsynonymous SNV P40L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.44 146280 chr20 31022938 31022938 C A rs141610022 ASXL1 Nonsynonymous SNV P747H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 146281 chr12 53516919 53516919 G A rs4244355 SOAT2 Nonsynonymous SNV A431T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 146282 chr22 38221126 38221126 C G rs780190845 GALR3 Nonsynonymous SNV H252Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 146283 chr2 149243444 149243444 G C rs148321416 MBD5 Nonsynonymous SNV Q993H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.03 146284 chr1 55680533 55680533 C T USP24 Nonsynonymous SNV R85H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 146285 chr20 31631153 31631153 G T BPIFB6 Nonsynonymous SNV A437S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.79 146286 chr11 118971506 118971506 G A rs199994118 DPAGT1 Synonymous SNV F110F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.61 146287 chr2 158177804 158177804 G A rs567418450 ERMN Synonymous SNV F258F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.246 146288 chr22 43575936 43575936 A C rs538558581 TTLL12 Nonsynonymous SNV V206G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.006 146289 chr12 56075735 56075735 C A rs762176191 METTL7B Nonsynonymous SNV T66K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 146290 chr12 56075737 56075737 G A rs772247957 METTL7B Nonsynonymous SNV G67R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 146291 chr3 99567592 99567592 A C rs756219024 FILIP1L Nonsynonymous SNV I736M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.82 146292 chr2 160735174 160735174 C T rs147820690 LY75, LY75-CD302 Nonsynonymous SNV G525E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 146293 chr1 66036178 66036178 G A rs148155161 LEPR Synonymous SNV A21A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 146294 chr12 57430725 57430725 C G MYO1A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 146295 chr12 57490856 57490856 G T rs761463709 STAT6 Nonsynonymous SNV H630Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 146296 chr4 100529937 100529937 A C MTTP Nonsynonymous SNV L551F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.19 146297 chr4 100571805 100571805 C T rs545662792 C4orf54 Nonsynonymous SNV G1334E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.4 146298 chr4 102712061 102712061 G A BANK1 Synonymous SNV K8K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.93 146299 chr22 46656551 46656551 T C rs111396160 PKDREJ Nonsynonymous SNV N890S 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 7.971 146300 chr22 46773018 46773018 G A rs141322099 CELSR1 Synonymous SNV A2508A 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 9.099 146301 chr12 94976070 94976070 G A rs138008625 TMCC3 Nonsynonymous SNV A77V 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 24 146302 chr12 58140003 58140003 C T rs199684487 TSPAN31 Synonymous SNV I14I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 146303 chr2 234680952 234680952 G A rs200370335 UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Nonsynonymous SNV R450H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 146304 chr4 107229959 107229959 G A TBCK Synonymous SNV L53L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 146305 chr12 6562262 6562262 G A rs201962928 TAPBPL Nonsynonymous SNV A32T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.45 146306 chr12 104378529 104378529 C T rs4135119 TDG Synonymous SNV L122L 0 0 0.01 4 0 0 0.01 3 0 0 0 0 12.43 146307 chr12 108169502 108169502 G - rs201513808 ASCL4 G172Afs*35 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 146308 chr2 179397091 179397091 C G rs185683410 TTN Nonsynonymous SNV A25686P 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 146309 chr11 128781408 128781408 C G rs945172987 KCNJ5 Synonymous SNV T80T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.287 146310 chr22 51159995 51159995 C T rs552332994 SHANK3 Nonsynonymous SNV A1306V 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 0.417 146311 chr2 196825666 196825666 C T rs772649162 DNAH7 Nonsynonymous SNV E737K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 146312 chr2 230231767 230231767 T C DNER Nonsynonymous SNV I642V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 146313 chr12 110927850 110927851 AT - rs781421737 FAM216A M244Efs*2 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 146314 chr1 9017327 9017327 A T rs374670090 CA6 Nonsynonymous SNV I71F 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 5.149 146315 chr2 242009463 242009463 A T rs183525741 SNED1 Nonsynonymous SNV T1146S 0 0.008 0 0 0 3 0 0 0 0 0 0 19.61 146316 chr12 936349 936349 C T rs72648621 WNK1 Synonymous SNV T358T 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.97 146317 chr2 202900105 202900105 T C rs754605178 FZD7 Synonymous SNV F245F 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 0.218 146318 chr2 242440200 242440200 T C rs55907011 STK25 Synonymous SNV L91L 0 0.01 0 0 0 4 0 0 0 0 0 0 0.876 146319 chr12 88496626 88496626 C T rs182369459 CEP290 Nonsynonymous SNV E994K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 146320 chr12 88584312 88584312 C A rs143116689 TMTC3 Nonsynonymous SNV A309E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 146321 chr2 234731603 234731603 G C MROH2A Nonsynonymous SNV A1315P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 146322 chr2 235951058 235951058 G A rs376577753 SH3BP4 Nonsynonymous SNV E549K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 146323 chr12 96181193 96181193 G A rs748149271 NTN4 Nonsynonymous SNV R37W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 146324 chr1 99156684 99156684 A G rs777317049 SNX7 Synonymous SNV Q139Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.573 146325 chr2 21225913 21225913 G A rs145704672 APOB Synonymous SNV D4127D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 4.222 146326 chr2 196664095 196664095 G A rs199671568 DNAH7 Synonymous SNV C3426C 0.004 0.008 0 0 5 3 0 0 0 0 0 0 8.901 146327 chr20 60989164 60989164 G A rs45565839 RBBP8NL Nonsynonymous SNV R415W 0.002 0.005 0.014 1 2 2 0.003 4 0 0 0 0 13.03 146328 chr12 123344981 123344981 G A rs758378252 HIP1R Synonymous SNV T857T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 16.96 146329 chr4 16165136 16165136 G A rs200723168 TAPT1 Nonsynonymous SNV S500F 0.003 0.01 0 0 3 4 0 0 0 0 0 0 24 146330 chr4 164450037 164450037 C T rs143609102 MARCHF1 Nonsynonymous SNV A228T 0 0.003 0 0 0 1 0 0 0 0 0 0 22 146331 chr2 202400884 202400884 C A rs148571033 C2CD6 Nonsynonymous SNV A456S 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.736 146332 chr13 109753150 109753150 A G rs770336271 MYO16 Nonsynonymous SNV D1118G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.667 146333 chr20 62194055 62194055 A G rs754661930 HELZ2 Synonymous SNV Y1471Y 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.002 146334 chr20 62303954 62303954 T G RTEL1 Nonsynonymous SNV F26V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 146335 chr20 62366046 62366046 G A rs375103722 ZGPAT Synonymous SNV P307P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.64 146336 chr2 207175716 207175716 T A rs774317539 ZDBF2 Nonsynonymous SNV V2155D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.46 146337 chr2 220011430 220011430 T C rs146861504 NHEJ1 Nonsynonymous SNV N187S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 2.875 146338 chr2 24305802 24305802 G A TP53I3 Nonsynonymous SNV A120V 0.003 0 0 0 3 0 0 0 0 0 0 0 32 146339 chr2 20845112 20845112 G A rs776813513 HS1BP3 Synonymous SNV V62V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 146340 chr4 177083272 177083272 G A rs148579014 WDR17 Nonsynonymous SNV D933N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.1 146341 chr2 39089382 39089382 G A rs745480460 DHX57 Synonymous SNV P57P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.146 146342 chr4 18023308 18023308 - AGCGGCGGCGGC LCORL A22_Q23insAAAA 0 0.005 0 0 0 2 0 0 0 0 0 0 146343 chr2 152301912 152301912 T C rs201010599 RIF1 Synonymous SNV L683L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 7.005 146344 chr13 20426279 20426279 C G rs148379377 ZMYM5 Nonsynonymous SNV Q14H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.67 146345 chr2 42867349 42867349 A G MTA3 Synonymous SNV E62E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.28 146346 chr2 26426939 26426939 C G rs116396996 HADHA Synonymous SNV V404V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.55 146347 chr2 43768451 43768453 TTT - rs140367558 THADA K1037del 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 146348 chr21 16339797 16339797 T A rs202001270 NRIP1 Nonsynonymous SNV R239S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 146349 chr2 152528884 152528884 T G rs376013221 NEB Nonsynonymous SNV D1433A 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 28.4 146350 chr2 211476856 211476856 C T rs201716417 CPS1 Nonsynonymous SNV R803C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 146351 chr21 30419284 30419284 T A rs141252862 USP16 Synonymous SNV S550S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 6.371 146352 chr2 227860187 227860187 C T rs79028313 RHBDD1 Synonymous SNV L299L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.8 146353 chr2 28836901 28836901 G A rs115147925 PLB1 Nonsynonymous SNV E1034K 0.01 0.003 0 0 12 1 0 0 0 0 0 0 9.983 146354 chr2 228012183 228012183 A G rs16823264 COL4A4 Nonsynonymous SNV I6T 0.004 0.003 0.014 0 5 1 0 4 0 0 1 0 Benign 8.453 146355 chr2 165551508 165551508 C T rs747694441 COBLL1 Synonymous SNV P798P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.757 146356 chr2 165946838 165946838 T C rs149264761 SCN3A Nonsynonymous SNV Q1893R 0.003 0.01 0 0 3 4 0 0 0 0 0 0 Uncertain significance 0.193 146357 chr2 231065630 231065630 G A rs59573011 SP110 Nonsynonymous SNV T367M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.74 146358 chr2 61715378 61715378 A G XPO1 Synonymous SNV I745I 0 0.005 0 0 0 2 0 0 0 0 0 0 11.6 146359 chr21 34968093 34968093 G A CRYZL1 Nonsynonymous SNV A283V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 146360 chr2 64083494 64083494 G A rs761317303 UGP2 Nonsynonymous SNV R14Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 146361 chr2 64323698 64323698 G A rs769847744 PELI1 Nonsynonymous SNV T117M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 146362 chr2 16745275 16745275 C T FAM49A Nonsynonymous SNV E94K 0 0.003 0 0 0 1 0 0 0 0 0 0 31 146363 chr2 220349039 220349039 C T rs199997533 SPEG Nonsynonymous SNV P2285L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 19.74 146364 chr20 3640568 3640568 C G rs74740423 GFRA4 Synonymous SNV P296P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 146365 chr20 36488740 36488740 A G rs778774670 CTNNBL1 Nonsynonymous SNV I533V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 146366 chr4 36081869 36081869 G A rs373836766 ARAP2 Nonsynonymous SNV T1526M 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.598 146367 chr4 36307906 36307906 G A rs996610454 DTHD1 Synonymous SNV G289G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.085 146368 chr2 220423130 220423130 A G rs754353021 OBSL1 Nonsynonymous SNV F1093S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.1 146369 chr2 220430044 220430044 G C rs371579379 OBSL1 Nonsynonymous SNV P776R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 20.8 146370 chr13 47127721 47127721 G C rs765478401 LRCH1 Nonsynonymous SNV E64Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 146371 chr2 73145379 73145379 C T EMX1 Nonsynonymous SNV A133V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.1 146372 chr2 73651734 73651734 C T rs760635159 ALMS1 Nonsynonymous SNV P314L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.5 146373 chr2 73676330 73676330 A G rs745887923 ALMS1 Synonymous SNV G891G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.266 146374 chr2 239039829 239039829 G A rs747364341 ESPNL Nonsynonymous SNV R457Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.3 146375 chr2 73681191 73681191 C T ALMS1 Nonsynonymous SNV H2512Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.6 146376 chr13 74988804 74988804 C T rs78654803 LOC100288208 0 0 0.01 0 0 0 0 3 0 0 0 0 7.711 146377 chr2 74883682 74883682 G A SEMA4F Nonsynonymous SNV R56Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.4 146378 chr2 55177804 55177804 C T rs777558884 EML6 Synonymous SNV H1367H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 146379 chr2 179213969 179213969 A G OSBPL6 Nonsynonymous SNV M305V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.92 146380 chr12 49312681 49312681 G T rs117646559 CCDC65 Nonsynonymous SNV D198Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 26.1 146381 chr2 230231632 230231632 C T rs145368755 DNER Nonsynonymous SNV D687N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.7 146382 chr13 95813471 95813471 C T rs144598765 ABCC4 Synonymous SNV P762P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 146383 chr2 61149373 61149373 C T rs750179790 REL Synonymous SNV N489N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 146384 chr4 56865745 56865745 T C rs150254495 CEP135 Synonymous SNV F738F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.576 146385 chr2 242435860 242435860 G A rs35625488 STK25 Synonymous SNV P398P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.72 146386 chr2 96992789 96992789 C T rs149952307 ITPRIPL1 Synonymous SNV S148S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.047 146387 chr2 97270521 97270521 T C rs192258068 KANSL3 Synonymous SNV T469T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.441 146388 chr12 52284586 52284586 C T rs200291062 ANKRD33 Nonsynonymous SNV R92W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 146389 chr13 78176345 78176345 T G rs955809529 SCEL-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 3.75 146390 chr22 18070015 18070015 C T rs140174333 SLC25A18 Nonsynonymous SNV R175C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 146391 chr3 10116228 10116228 G - FANCD2 E874Kfs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 146392 chr3 10116229 10116229 G C rs918379857 FANCD2 Nonsynonymous SNV E874Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 146393 chr2 18757516 18757516 G A rs759419345 NT5C1B, NT5C1B-RDH14 Synonymous SNV T423T 0 0.005 0 0 0 2 0 0 0 0 0 0 2.035 146394 chr12 53004326 53004326 C G rs556606983 KRT73-AS1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.427 146395 chr3 10452306 10452306 G A ATP2B2 Synonymous SNV N131N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.709 146396 chr22 20104098 20104098 C T rs772443760 TRMT2A Nonsynonymous SNV S21N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.051 146397 chr2 191399340 191399340 C T NEMP2 Synonymous SNV L14L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.09 146398 chr3 108780836 108780836 T A rs17225637 MORC1 Nonsynonymous SNV K322M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 25.5 146399 chr22 22323075 22323075 C T rs145530716 TOP3B Synonymous SNV Q218Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.5 146400 chr2 33585760 33585760 A G rs139331984 LTBP1 Nonsynonymous SNV N998S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.4 146401 chr2 242149013 242149013 G A rs752172841 ANO7 Nonsynonymous SNV R441H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.707 146402 chr14 21861979 21861979 C A rs372488156 CHD8 Nonsynonymous SNV R1992L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 146403 chr2 242189319 242189319 G A rs145115963 HDLBP Synonymous SNV I450I 0.009 0.013 0.003 3 11 5 0.008 1 0 0 0 0 15.31 146404 chr2 9484726 9484726 G T rs1056380934 ASAP2 Synonymous SNV G305G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.119 146405 chr22 24106828 24106828 - A rs746415942 C22orf15 Frameshift insertion E87Rfs*65 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 146406 chr14 23503974 23503974 C G PSMB5 Synonymous SNV L39L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.357 146407 chr2 202900348 202900348 G A rs148824946 FZD7 Synonymous SNV T326T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.47 146408 chr22 24988865 24988865 C T rs747416487 LRRC75B Nonsynonymous SNV E48K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 146409 chr4 80328238 80328238 C A rs1005241146 GK2 Stop gain E373X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 39 146410 chr3 100387926 100387926 T C rs145344966 ADGRG7 Nonsynonymous SNV F410L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 146411 chr12 56482551 56482551 T C ERBB3 Synonymous SNV S336S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.917 146412 chr12 56482552 56482552 G C ERBB3 Nonsynonymous SNV G337R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 146413 chr12 56482553 56482553 G A ERBB3 Nonsynonymous SNV G337E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 146414 chr2 44173284 44173284 T C rs765994356 LRPPRC Synonymous SNV K726K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.982 146415 chr4 8470041 8470041 G A rs748467498 TRMT44 Nonsynonymous SNV R391Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.109 146416 chr2 47748673 47748673 C A KCNK12 Synonymous SNV L222L 0.005 0 0 0 6 0 0 0 0 0 0 0 16.38 146417 chr22 30766527 30766527 C T rs147530673 CCDC157 Synonymous SNV S211S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.55 146418 chr3 108129716 108129716 A C MYH15 Nonsynonymous SNV N1423K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.1 146419 chr4 88533512 88533512 T C DSPP Synonymous SNV G58G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.252 146420 chr12 57908817 57908817 G A rs113808165 MARS1 Nonsynonymous SNV R727Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.74 146421 chr12 57971848 57971848 G A rs113155897 KIF5A Synonymous SNV T717T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.63 146422 chr14 38091583 38091583 A T TTC6 Nonsynonymous SNV E121V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 146423 chr22 31687240 31687240 G A rs776304885 PIK3IP1 Nonsynonymous SNV T38I 0 0 0 3 0 0 0.008 0 0 0 0 1 14.28 146424 chr4 951684 951684 G A rs141810982 TMEM175 Synonymous SNV A223A 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 5.995 146425 chr2 32312629 32312629 G A rs141944844 SPAST Nonsynonymous SNV V161I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.06 146426 chr14 23635723 23635723 C T SLC7A8 Nonsynonymous SNV V60I 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 25.8 146427 chr2 218713239 218713239 G A rs367726103 TNS1 Synonymous SNV N542N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.031 146428 chr12 69967820 69967820 A G rs188973123 FRS2 Synonymous SNV E204E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.566 146429 chr22 36689909 36689909 C T rs141582478 MYH9 Nonsynonymous SNV V1280M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 146430 chr4 997206 997206 C G rs121965021 IDUA Nonsynonymous SNV P401R 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 26.5 146431 chr3 127339925 127339925 C T rs138865006 MCM2 Nonsynonymous SNV R820C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 146432 chr12 70954678 70954678 C T rs539027371 PTPRB Nonsynonymous SNV R1094Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 146433 chr12 71029787 71029787 C A rs759875394 PTPRB Nonsynonymous SNV V39F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 146434 chr3 118621523 118621523 T C rs34414843 IGSF11 Synonymous SNV S380S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.486 146435 chr3 118931403 118931403 C T rs72655939 B4GALT4 Nonsynonymous SNV G343D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 19.15 146436 chr14 58831639 58831639 A T ARID4A Nonsynonymous SNV E944D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.819 146437 chr5 112137037 112137037 A G rs369345931 APC Nonsynonymous SNV Q246R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 15.11 146438 chr3 119451252 119451252 G A rs72965006 MAATS1 Nonsynonymous SNV R251H 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 32 146439 chr3 119720980 119720980 T A rs34002644 GSK3B Synonymous SNV G65G 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 11.82 146440 chr14 60443942 60443942 G A rs138661438 LRRC9 0.002 0 0.007 0 2 0 0 2 0 0 0 0 26 146441 chr3 130380887 130380887 G A rs373347732 COL6A6 Synonymous SNV L2079L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.835 146442 chr3 130463857 130463857 T C rs768013748 PIK3R4 Nonsynonymous SNV Q69R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 146443 chr3 121206428 121206428 C A rs61734794 POLQ Nonsynonymous SNV D1784Y 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 19.13 146444 chr12 81799669 81799669 C T rs370654615 PPFIA2 Nonsynonymous SNV R121H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 146445 chr3 121208611 121208611 G A rs34778629 POLQ Nonsynonymous SNV P1056L 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 0.404 146446 chr3 121208898 121208898 A G rs3218641 POLQ Synonymous SNV N960N 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 0.707 146447 chr3 121209015 121209015 G A rs3218646 POLQ Synonymous SNV H921H 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Benign 6.856 146448 chr3 122254993 122254993 A G rs376206666 PARP9 Nonsynonymous SNV I701T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.39 146449 chr3 122354796 122354796 G C rs145474072 PARP15 Nonsynonymous SNV R326P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.961 146450 chr14 38091480 38091480 C T rs769270153 TTC6 Nonsynonymous SNV R87W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 146451 chr3 122459234 122459234 G A rs140407708 HSPBAP1 Synonymous SNV T447T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.78 146452 chr22 41926757 41926757 G A rs35463585 POLR3H Synonymous SNV P136P 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 9.569 146453 chr22 41940075 41940075 C T rs148608238 POLR3H Nonsynonymous SNV V11I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 146454 chr3 122632821 122632821 C T rs143077174 SEMA5B Synonymous SNV S614S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 21.5 146455 chr22 42154430 42154430 T C rs8141939 MEI1 Synonymous SNV P671P 0.011 0.005 0.007 6 13 2 0.015 2 0 0 0 0 1.964 146456 chr14 38679685 38679685 G A rs765239720 SSTR1 Nonsynonymous SNV S364N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 146457 chr14 73425408 73425408 C T rs754594205 DCAF4 Synonymous SNV A401A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 20.7 146458 chr5 131269246 131269246 G A rs74847465 MEIKIN Synonymous SNV S146S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.873 146459 chr3 124952751 124952751 A G rs768264505 ZNF148 Synonymous SNV H273H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 146460 chr3 125854466 125854466 C T rs138191102 ALDH1L1 Nonsynonymous SNV D361N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 146461 chr14 75245215 75245215 G A rs142846161 YLPM1 Synonymous SNV L313L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 11.4 146462 chr2 70901896 70901896 G A rs114897963 ADD2 Nonsynonymous SNV T552M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.2 146463 chr5 135561001 135561001 C T rs759113418 TRPC7 Synonymous SNV L652L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.34 146464 chr14 77493412 77493412 G A rs200743000 IRF2BPL Nonsynonymous SNV P242S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.91 146465 chr22 45258325 45258325 G A rs147677675 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV P384P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 6.547 146466 chr2 233697763 233697763 - GCA rs775609506 GIGYF2 Q911_L912insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 146467 chr21 45561193 45561193 C G rs776154326 GATD3A Synonymous SNV T223T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.415 146468 chr21 45978043 45978043 G C rs201034957 KRTAP10-3 Nonsynonymous SNV P186A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.933 146469 chr3 150398667 150398667 C T rs373206648 ERICH6 Synonymous SNV E165E 0 0.005 0 3 0 2 0.008 0 0 0 0 0 3.582 146470 chr14 78392195 78392195 A G rs760721163 ADCK1 Nonsynonymous SNV Q298R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 146471 chr14 80971338 80971338 G C rs777300675 CEP128 Nonsynonymous SNV S1033C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 146472 chr3 128722663 128722663 C T rs183061517 EFCC1 Synonymous SNV S241S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 8.319 146473 chr21 46363728 46363728 C T rs549623335 FAM207A Nonsynonymous SNV R87W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 146474 chr3 130095580 130095580 C T rs569020480 COL6A5 Nonsynonymous SNV R190W 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 24.4 146475 chr14 91526733 91526733 C A rs202148951 RPS6KA5 Nonsynonymous SNV A16S 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 12.96 146476 chr5 140027435 140027435 C T rs146400503 MIR3655 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.503 146477 chr14 91942202 91942202 T C PPP4R3A Nonsynonymous SNV N168D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 146478 chr22 46859815 46859815 G A rs771694896 CELSR1 Synonymous SNV F1324F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.64 146479 chr3 108158601 108158601 C G rs201884560 MYH15 Nonsynonymous SNV E1040Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 146480 chr3 159943749 159943749 C T rs920190098 C3orf80 Synonymous SNV Y109Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 146481 chr3 160149469 160149469 T C SMC4 Synonymous SNV P1051P 0.001 0.01 0 0 1 4 0 0 0 0 0 0 9.89 146482 chr2 85663621 85663621 C T SH2D6 Synonymous SNV H116H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.444 146483 chr14 94467549 94467549 C T rs60333700 CCDC197 Synonymous SNV Y82Y 0 0 0.034 0 0 0 0 10 0 0 0 0 9.338 146484 chr3 167272557 167272557 A T rs138815835 WDR49 Nonsynonymous SNV H227Q 0 0.005 0 0 0 2 0 0 0 0 0 0 10.47 146485 chr2 88387414 88387414 A G rs750155041 SMYD1 Synonymous SNV R116R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.883 146486 chr21 47974136 47974136 G C rs750860152 DIP2A Nonsynonymous SNV V1025L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 146487 chr12 120512344 120512344 G C rs751677104 BICDL1 Nonsynonymous SNV G469A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 146488 chr12 120600682 120600682 G A GCN1 Nonsynonymous SNV P711L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 146489 chr14 95906260 95906260 G A rs768848706 SYNE3 Synonymous SNV A688A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.837 146490 chr5 140740353 140740353 C T rs370966840 PCDHGB2 Synonymous SNV G217G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.598 146491 chr14 96707029 96707029 G A rs143890409 BDKRB2 Nonsynonymous SNV D122N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.004 146492 chr12 121177124 121177124 G T rs796051905 ACADS Nonsynonymous SNV G371V 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 30 146493 chr2 97007862 97007862 A G NCAPH Nonsynonymous SNV K105R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 146494 chr14 68252945 68252945 G A rs374605354 ZFYVE26 Nonsynonymous SNV R1009W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 146495 chr5 140789658 140789658 G C rs778509378 PCDHGB6 Nonsynonymous SNV R630P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 146496 chr3 179371024 179371024 G A rs374896625 USP13 Nonsynonymous SNV R4Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 146497 chr2 97505742 97505742 G C ANKRD23 Nonsynonymous SNV Q239E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 146498 chr5 140794963 140794963 G A rs11575962 PCDHGA10 Nonsynonymous SNV G741S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.835 146499 chr3 179519673 179519673 C T rs150920919 PEX5L Synonymous SNV Q416Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.821 146500 chr5 140797832 140797832 G T PCDHGB7 Nonsynonymous SNV D136Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 146501 chr12 121622380 121622380 C G rs2230913 P2RX7 Nonsynonymous SNV H521Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 146502 chr22 20760310 20760310 G A rs200227826 ZNF74 Synonymous SNV E258E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 146503 chr14 71275773 71275773 - CCT rs765927909 MAP3K9 E38_A39insE 0.003 0 0 2 3 0 0.005 0 0 0 0 0 146504 chr2 242065616 242065616 C T rs747062664 PASK Nonsynonymous SNV R905Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.768 146505 chr2 99439819 99439819 C A KIAA1211L Nonsynonymous SNV R306L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 146506 chr12 122079295 122079295 A G rs3741596 ORAI1 Nonsynonymous SNV S220G 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Benign 0.002 146507 chr12 122079348 122079348 T C rs3741597 ORAI1 Synonymous SNV A237A 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Benign 0.009 146508 chr12 122079429 122079429 T C rs3825174 ORAI1 Synonymous SNV V264V 0.002 0 0.014 0 2 0 0 4 0 0 0 0 Benign 4.158 146509 chr22 21336714 21336714 C G rs371007598 LZTR1 Synonymous SNV G18G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 146510 chr2 242545783 242545783 T C rs753010545 THAP4 Nonsynonymous SNV Q37R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 146511 chr12 122825989 122825989 T A rs201086053 CLIP1 Nonsynonymous SNV I542L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.821 146512 chr15 25219569 25219569 C G rs766395506 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 146513 chr3 121410012 121410012 A T rs765398243 GOLGB1 Synonymous SNV G2653G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.03 146514 chr15 25417705 25417705 G A rs34830686 SNHG14 0 0 0.014 0 0 0 0 4 0 0 1 0 0.36 146515 chr15 25429108 25429108 A G rs2011010 SNHG14 0 0 0.037 0 0 0 0 11 0 0 1 0 0.27 146516 chr22 22869520 22869520 A G rs145445818 ZNF280A Synonymous SNV T145T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.059 146517 chr15 25442795 25442795 C T rs12910266 SNORD115-15 0 0 0.02 0 0 0 0 6 0 0 1 0 14.28 146518 chr15 25456933 25456933 G A rs36042159 PWAR4 0 0 0.02 0 0 0 0 6 0 0 1 0 1.888 146519 chr3 151155076 151155076 T G rs144086705 IGSF10 Nonsynonymous SNV I452L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.037 146520 chr15 25460760 25460760 G A rs34280431 SNORD115-25 0 0 0.017 0 0 0 0 5 0 0 1 0 6.474 146521 chr15 25496338 25496338 G A rs2714744 SNHG14 0 0 0.017 0 0 0 0 5 0 0 1 0 1.984 146522 chr2 25966848 25966848 A G rs774197741 ASXL2 Synonymous SNV S526S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.33 146523 chr15 26108126 26108126 G T ATP10A Nonsynonymous SNV P40T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.908 146524 chr3 108174671 108174671 C T MYH15 Nonsynonymous SNV S745N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 146525 chr12 124421802 124421802 G T CCDC92 Nonsynonymous SNV P250T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 146526 chr22 24035129 24035129 C T rs17003397 RGL4 Nonsynonymous SNV T216M 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 5.682 146527 chr2 26800400 26800400 G A rs780159247 FAM166C Nonsynonymous SNV R122Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 146528 chr22 24584236 24584236 C T rs146576308 SUSD2 Synonymous SNV L795L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 146529 chr5 149416391 149416391 G A rs753841260 HMGXB3 Nonsynonymous SNV V560M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 146530 chr15 34395109 34395109 C T PGBD4 Nonsynonymous SNV A126V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 146531 chr5 149509462 149509462 G A rs371550567 PDGFRB Synonymous SNV N415N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.43 146532 chr22 25603074 25603074 G T rs201027853 CRYBB3 Nonsynonymous SNV E177D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.91 146533 chr12 130847588 130847588 C T rs372258497 PIWIL1 Synonymous SNV I698I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 146534 chr12 132464251 132464251 G T rs147304028 EP400 Nonsynonymous SNV A450S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 146535 chr3 113789591 113789591 G A rs114394287 QTRT2 Nonsynonymous SNV C45Y 0.008 0.003 0.007 2 9 1 0.005 2 0 0 0 0 11.19 146536 chr15 40861860 40861860 G A rs747036832 RPUSD2 Synonymous SNV E108E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.259 146537 chr22 29182169 29182169 C T rs77099742 CCDC117 Nonsynonymous SNV T214I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 21.6 146538 chr2 31414830 31414830 G A rs181906086 CAPN14 Nonsynonymous SNV L417F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.239 146539 chr3 120469581 120469581 C T GTF2E1 Nonsynonymous SNV S61L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 146540 chr2 120409610 120409610 C T rs756687478 CFAP221 Synonymous SNV F793F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.26 146541 chr3 183542969 183542969 C A MAP6D1 Nonsynonymous SNV A123S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.23 146542 chr2 121991694 121991694 C G rs140290651 TFCP2L1 Nonsynonymous SNV D391H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 146543 chr13 23853504 23853504 A G rs544414698 SGCG Nonsynonymous SNV K131R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.85 146544 chr13 24242123 24242123 G A rs766006684 TNFRSF19 Synonymous SNV P115P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.01 146545 chr22 32614612 32614612 C G SLC5A4 Nonsynonymous SNV L623F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 146546 chr2 133540594 133540594 G A rs752414134 NCKAP5 Nonsynonymous SNV P1264S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 146547 chr3 27472926 27472926 C T rs139578211 SLC4A7 Nonsynonymous SNV R338H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.496 146548 chr14 99641543 99641543 - CTC BCL11B E471_L472insE 0 0.005 0 1 0 2 0.003 0 0 0 0 0 146549 chr22 35730402 35730402 C T rs745475934 TOM1 Nonsynonymous SNV A325V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 146550 chr3 124351480 124351480 G A rs201792111 KALRN Nonsynonymous SNV R100Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 146551 chr2 46608802 46608807 AAGCTG - EPAS1 L708_K709del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 146552 chr13 28143234 28143234 G A rs61753155 LNX2 Nonsynonymous SNV S196F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.45 146553 chr5 172197284 172197284 G A rs780085153 DUSP1 Synonymous SNV S131S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.97 146554 chr2 54200899 54200899 A C ACYP2 Nonsynonymous SNV Q5P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.54 146555 chr5 173035294 173035294 - TCTTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGC BOD1 Q121_I122insARRPGPSSSIPGHFLR 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 146556 chr2 54562014 54562014 C T rs199561868 C2orf73 Synonymous SNV H29H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.709 146557 chr3 38038995 38038995 C A rs759711919 VILL Nonsynonymous SNV L25I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 146558 chr13 32776576 32776576 G A rs117167401 FRY Synonymous SNV P1310P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.277 146559 chr3 38608022 38608022 C G rs199473211 SCN5A Nonsynonymous SNV E1186Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.1 146560 chr2 152320365 152320365 G A rs765365931 RIF1 Nonsynonymous SNV R1444H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 21.6 146561 chr3 140122641 140122641 G A rs371820039 CLSTN2 Nonsynonymous SNV E135K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.2 146562 chr22 38485582 38485582 C T BAIAP2L2 Nonsynonymous SNV A238T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.82 146563 chr3 129236413 129236413 A G rs1052271655 IFT122 Nonsynonymous SNV R1013G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.335 146564 chr3 194080193 194080193 C A rs200303081 LRRC15 Nonsynonymous SNV R527L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 146565 chr3 142280099 142280099 T G ATR Synonymous SNV P445P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 6.082 146566 chr22 39621807 39621807 C T rs371825684 PDGFB Nonsynonymous SNV R216H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 146567 chr15 64972858 64972860 CTT - rs544643919 ZNF609 S1321del 0 0 0.003 0 0 0 0 1 0 0 0 0 146568 chr3 146171883 146171883 G C rs141636818 PLSCR2 Nonsynonymous SNV T199R 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 18.83 146569 chr22 40813413 40813413 G A rs145757367 MRTFA Nonsynonymous SNV P717S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.86 146570 chr22 41257566 41257566 G T rs61758421 DNAJB7 Nonsynonymous SNV P145T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 7.274 146571 chr2 70528854 70528854 G C rs753560700 FAM136A Nonsynonymous SNV A97G 0 0.008 0 0 0 3 0 0 0 0 0 0 6.208 146572 chr3 149095201 149095201 C T rs142662530 TM4SF1 Nonsynonymous SNV R45H 0.005 0 0 3 6 0 0.008 0 0 0 0 0 23 146573 chr3 42906214 42906214 - A ACKR2 Stop gain Y74* 0.002 0.003 0 0 2 1 0 0 0 0 0 0 146574 chr3 130346185 130346185 A G rs141836516 COL6A6 Nonsynonymous SNV Y1655C 0.007 0.008 0.003 4 8 3 0.01 1 0 0 0 0 23.3 146575 chr15 67479795 67479795 C A rs757106110 SMAD3 Synonymous SNV R173R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.5 146576 chr5 180219882 180219882 C T rs72549457 MGAT1 Synonymous SNV T30T 0.002 0.013 0.003 1 2 5 0.003 1 0 0 0 0 Benign 13.56 146577 chr3 150416661 150416661 T G ERICH6 Nonsynonymous SNV H11P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 146578 chr15 68624766 68624766 G A rs200630645 ITGA11 Synonymous SNV D492D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.788 146579 chr22 43523784 43523784 C T rs372926493 BIK Synonymous SNV S81S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.25 146580 chr3 20027609 20027609 G A rs781377193 PP2D1 Stop gain R386X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 146581 chr15 72431973 72431973 C G rs139225751 SENP8 Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 146582 chr15 73028295 73028295 A T rs147202164 BBS4 Nonsynonymous SNV E240D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.27 146583 chr2 74328123 74328123 C T rs372575139 TET3 Nonsynonymous SNV P1310L 0 0.005 0 0 0 2 0 0 0 0 0 0 18.24 146584 chr5 32048734 32048734 C T rs766389561 PDZD2 Stop gain R537X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 146585 chr3 160156200 160156200 G A rs150969319 TRIM59 Nonsynonymous SNV R258C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.8 146586 chr13 77835444 77835444 C T rs370173382 MYCBP2 Nonsynonymous SNV V572I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 146587 chr3 46307331 46307331 A G rs199650733 CCR3 Nonsynonymous SNV R228G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 146588 chr15 75500776 75500776 C T rs201154047 C15orf39 Nonsynonymous SNV T796M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 146589 chr13 79233254 79233254 A T OBI1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 146590 chr13 97484923 97484923 G T HS6ST3 Nonsynonymous SNV R296L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 146591 chr15 77329409 77329409 C T rs141227274 PSTPIP1 Synonymous SNV S362S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 9.508 146592 chr3 39108050 39108050 T G rs148407227 WDR48 Nonsynonymous SNV S12A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 29 146593 chr13 99907672 99907672 G A rs376476131 GPR18 Nonsynonymous SNV T152M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 146594 chr3 39116315 39116315 G C WDR48 Synonymous SNV A175A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.985 146595 chr3 4859824 4859824 A G rs763498610 ITPR1 Synonymous SNV E2579E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.226 146596 chr5 39383255 39383255 G A rs373135500 DAB2 Nonsynonymous SNV T248M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 146597 chr3 149216671 149216671 G A rs756509127 TM4SF4 Synonymous SNV G188G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.603 146598 chr3 182988301 182988301 G A rs772844252 B3GNT5 Nonsynonymous SNV V239M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 146599 chr3 150127789 150127789 C T rs139936521 TSC22D2 Synonymous SNV L218L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.86 146600 chr3 183542946 183542946 G A rs376765653 MAP6D1 Synonymous SNV T130T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.907 146601 chr13 103400822 103400822 G A rs112022745 CCDC168 Nonsynonymous SNV T742M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.214 146602 chr15 83680252 83680252 G T C15orf40 Synonymous SNV T36T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.181 146603 chr5 43246092 43246092 G T NIM1K Nonsynonymous SNV G72V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 146604 chr13 109550477 109550477 C T rs746199612 MYO16 Synonymous SNV T591T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13 146605 chr3 183959150 183959150 G A rs867799315 VWA5B2 Synonymous SNV Q828Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.242 146606 chr3 49694387 49694387 A G rs750529726 BSN Synonymous SNV L2466L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.436 146607 chr13 111117854 111117854 G A rs771559117 COL4A2 Nonsynonymous SNV G627S 0.003 0 0 0 4 0 0 0 0 0 0 0 27.2 146608 chr15 89155073 89155073 C T rs41276930 MIR7-2 0 0 0.003 0 0 0 0 1 0 0 0 0 2.055 146609 chr3 44762890 44762890 G A rs778928814 ZNF502 Nonsynonymous SNV R194H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 146610 chr2 102035419 102035419 T A RFX8 Nonsynonymous SNV D82V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 146611 chr3 52417954 52417954 C T rs570778092 DNAH1 Synonymous SNV N2743N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.52 146612 chr2 179654142 179654142 C T TTN Nonsynonymous SNV R628K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.7 146613 chr3 189838136 189838136 C G P3H2 Nonsynonymous SNV G129R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 146614 chr13 115012439 115012439 A G rs150010583 CDC16 Nonsynonymous SNV M217V 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 10.7 146615 chr13 115037788 115037788 C T rs773269949 CDC16 Nonsynonymous SNV T526M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 146616 chr13 115091726 115091726 T G rs149344812 CHAMP1 Synonymous SNV L803L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.748 146617 chr14 20344854 20344854 C T rs147651981 OR4K2 Nonsynonymous SNV A143V 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 6.486 146618 chr3 169587465 169587465 G A rs190983691 LRRC31 Nonsynonymous SNV S44F 0.003 0 0 0 3 0 0 0 0 0 0 0 0.007 146619 chr3 47894409 47894409 G A rs755832079 MAP4 Nonsynonymous SNV T1094M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.69 146620 chr15 90892556 90892556 C T rs916626975 GABARAPL3 0 0 0.003 0 0 0 0 1 0 0 0 0 2.372 146621 chr3 48667369 48667369 G A rs768116453 SLC26A6 Synonymous SNV L382L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.49 146622 chr3 48697642 48697642 C A rs749597274 CELSR3 Nonsynonymous SNV G809V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 146623 chr3 49161011 49161011 G A rs183898563 LAMB2 Nonsynonymous SNV T1284I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 146624 chr3 49694168 49694168 G A rs761336606 BSN Synonymous SNV E2393E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.634 146625 chr2 113343573 113343573 G A rs752726453 CHCHD5 Nonsynonymous SNV A9T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 25.5 146626 chr14 20849189 20849189 G C rs144150517 TEP1 Nonsynonymous SNV R1447G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.061 146627 chr15 57839568 57839568 G A rs145594414 CGNL1 Synonymous SNV P1263P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.758 146628 chr3 180320723 180320723 C T rs143759891 TTC14 Nonsynonymous SNV S69F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 146629 chr15 95398683 95398685 AGA - LOC440311 0 0 0.003 0 0 0 0 1 0 0 0 0 146630 chr3 64644370 64644370 G A rs188431418 ADAMTS9 Synonymous SNV S259S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.23 146631 chr2 113942579 113942579 G A rs376442135 PSD4 Nonsynonymous SNV E368K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.504 146632 chr3 66465425 66465425 G C LRIG1 Nonsynonymous SNV S189W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 146633 chr3 50645280 50645280 C T rs753924515 CISH Nonsynonymous SNV A179T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.52 146634 chr15 99797868 99797868 C T rs12906713 HSP90B2P 0 0 0.02 0 0 0 0 6 0 0 2 0 0.923 146635 chr3 121132024 121132024 A G rs192144338 STXBP5L Nonsynonymous SNV M990V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 146636 chr3 183543009 183543009 C A rs114532244 MAP6D1 Synonymous SNV A109A 0.009 0 0 4 10 0 0.01 0 0 0 0 0 15.95 146637 chr3 121410436 121410436 C T rs114926530 GOLGB1 Nonsynonymous SNV R2512Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 146638 chr3 183824087 183824087 A G HTR3E Nonsynonymous SNV Q392R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.266 146639 chr3 184001752 184001752 G A rs140522914 ECE2, EEF1AKMT4-ECE2 Synonymous SNV S303S 0.004 0 0 0 5 0 0 0 0 0 0 0 13.68 146640 chr3 184062679 184062679 G A rs377287428 FAM131A Nonsynonymous SNV R256Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.404 146641 chr3 184090836 184090836 G C rs750077381 THPO Nonsynonymous SNV A176G 0.004 0 0 0 5 0 0 0 0 0 0 0 16.69 146642 chr3 97806611 97806611 C G OR5AC2 Nonsynonymous SNV L199V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.75 146643 chr3 122640902 122640902 C T rs181328300 SEMA5B Synonymous SNV E458E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.71 146644 chr3 27763066 27763066 G A rs753941091 EOMES Synonymous SNV Y240Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.777 146645 chr15 67709323 67709323 G A rs747003634 IQCH Nonsynonymous SNV A311T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 146646 chr3 186257331 186257331 T C rs143507827 CRYGS Nonsynonymous SNV D26G 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 146647 chr15 68617496 68617496 G A rs200856232 ITGA11 Synonymous SNV D765D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.76 146648 chr15 69072466 69072466 T G ANP32A Nonsynonymous SNV Q235P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.7 146649 chr16 1634309 1634309 G T IFT140 Nonsynonymous SNV S423Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 146650 chr16 1660089 1660089 T C rs148463460 LOC105371046 0 0 0.003 0 0 0 0 1 0 0 0 0 5.655 146651 chr3 33216481 33216481 G A rs371807499 SUSD5 Synonymous SNV Y165Y 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 10.79 146652 chr3 37090070 37090070 G T rs1800146 MLH1 Synonymous SNV L295L 0.011 0.013 0 5 13 5 0.013 0 0 0 0 0 Benign 9.707 146653 chr3 58109275 58109275 C T rs373256107 FLNB Synonymous SNV Y1194Y 0.003 0 0 0 4 0 0 0 0 0 0 0 13.54 146654 chr3 38163938 38163938 T A DLEC1 Nonsynonymous SNV W1727R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.055 146655 chr3 127323810 127323810 G A rs770294155 MCM2 Nonsynonymous SNV E162K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.4 146656 chr3 127379635 127379635 C T rs34691761 PODXL2 Nonsynonymous SNV P255L 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 0.056 146657 chr4 106156748 106156748 G A rs769376786 TET2 Nonsynonymous SNV R550Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 146658 chr3 194117609 194117609 C A GP5 Nonsynonymous SNV G468V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.588 146659 chr16 2140268 2140268 C G rs369171457 MIR1225 0 0 0.003 0 0 0 0 1 0 0 0 0 6.782 146660 chr3 77693976 77693976 C T rs184958084 ROBO2 Synonymous SNV G1352G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 8.408 146661 chr2 210752827 210752827 G A rs1011846258 UNC80 Synonymous SNV E1373E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.4 146662 chr2 21229355 21229355 T C rs200305144 APOB Nonsynonymous SNV Y3462C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 24.9 146663 chr3 97655739 97655739 G A rs370818948 CRYBG3 Nonsynonymous SNV R2831H 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 34 146664 chr3 197238972 197238972 A G BDH1 Nonsynonymous SNV Y276H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 146665 chr16 25704157 25704157 T C rs749477262 HS3ST4 Nonsynonymous SNV L140P 0.002 0.008 0.003 0 2 3 0 1 0 1 0 0 12.33 146666 chr14 38276579 38276579 A G TTC6 Nonsynonymous SNV I1473V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 146667 chr3 43618509 43618509 T A rs374795191 ANO10 Nonsynonymous SNV R168S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 7.497 146668 chr2 217559390 217559390 T C IGFBP5 Nonsynonymous SNV M37V 0 0 0 5 0 0 0.013 0 0 0 0 1 18.9 146669 chr6 100838911 100838911 T C rs751837277 SIM1 Nonsynonymous SNV S543G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 23.2 146670 chr16 28507916 28507916 C T rs62034316 APOBR Synonymous SNV A518A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 146671 chr6 10410199 10410199 C T TFAP2A Nonsynonymous SNV A133T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 146672 chr15 83660772 83660772 A G C15orf40 Synonymous SNV A131A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.085 146673 chr2 219204516 219204518 TAC - PNKD Y59del 0 0 0 3 0 0 0.008 0 0 0 0 0 146674 chr16 28926090 28926090 G A rs199677354 RABEP2 Nonsynonymous SNV S149L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 146675 chr3 99908858 99908858 C T rs568325592 TMEM30CP 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 146676 chr15 85234774 85234774 C A rs749734813 SEC11A Synonymous SNV V51V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 18.63 146677 chr3 137786381 137786381 T C DZIP1L Nonsynonymous SNV Q665R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.483 146678 chr3 137942524 137942524 C T rs747253917 ARMC8 Synonymous SNV C86C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 146679 chr16 30620905 30620905 T A rs777634421 ZNF689 Nonsynonymous SNV D87V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.872 146680 chr3 33063145 33063145 T C rs893134596 GLB1 Synonymous SNV L251L 0.003 0 0 0 4 0 0 0 0 0 0 0 12.64 146681 chr14 52481774 52481774 G A rs117918472 NID2 Nonsynonymous SNV A1083V 0.01 0 0 3 12 0 0.008 0 0 0 0 0 25.8 146682 chr16 31122517 31122517 G A rs55884792 BCKDK Synonymous SNV P274P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.22 146683 chr4 106888601 106888601 C T rs140949446 NPNT Synonymous SNV S505S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.41 146684 chr16 31498899 31498899 G A rs138795531 SLC5A2 Nonsynonymous SNV G235E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.49 146685 chr14 54996872 54996872 G A rs11555279 CGRRF1 Nonsynonymous SNV C117Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.748 146686 chr6 116953443 116953443 C T rs146142715 RSPH4A Nonsynonymous SNV P664S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 146687 chr3 39228398 39228398 C T XIRP1 Nonsynonymous SNV V847M 0.002 0 0 0 2 0 0 0 0 0 0 0 27 146688 chr4 113353220 113353220 C T rs757488837 ALPK1 Synonymous SNV V761V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 146689 chr4 153897084 153897084 C T rs142519378 FHDC1 Nonsynonymous SNV R881W 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 26.5 146690 chr3 43732523 43732523 C T rs140969259 ABHD5 Synonymous SNV T13T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 14.8 146691 chr2 183723539 183723539 G A rs112071842 FRZB Synonymous SNV N167N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.58 146692 chr3 52816060 52816060 A C ITIH1 Synonymous SNV R122R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.039 146693 chr16 50118141 50118141 C G HEATR3 Nonsynonymous SNV S179C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 146694 chr4 123838816 123838816 C T rs376495530 NUDT6 Stop gain W94X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 146695 chr3 168812871 168812871 G A rs116736168 MECOM Synonymous SNV N808N 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 7.117 146696 chr6 137113240 137113240 G C MAP3K5 Nonsynonymous SNV S19W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.06 146697 chr3 170150538 170150538 C T rs200665065 CLDN11 Synonymous SNV H122H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.809 146698 chr3 171965462 171965462 A T rs774516222 FNDC3B Nonsynonymous SNV H135L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.74 146699 chr14 73730454 73730454 C T PAPLN Nonsynonymous SNV A942V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.849 146700 chr3 46449581 46449581 A G rs11574443 CCRL2 Nonsynonymous SNV Y16C 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 15.15 146701 chr16 420043 420043 C G rs149440376 MRPL28 Nonsynonymous SNV R59P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 17.93 146702 chr16 57546739 57546739 G A rs144990758 CCDC102A Nonsynonymous SNV R523C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 146703 chr3 180334142 180334142 C A rs757823891 CCDC39 Stop gain E866X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 43 146704 chr16 615053 615053 G A rs540247099 PRR35 Nonsynonymous SNV E488K 0 0 0 2 0 0 0.005 0 0 0 0 0 8.764 146705 chr16 57756736 57756736 C T rs372375509 DRC7 Nonsynonymous SNV T399I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 146706 chr3 47467554 47467554 A C rs929329559 SCAP Synonymous SNV G26G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.249 146707 chr4 147110790 147110790 A T rs41280529 LSM6 Synonymous SNV T75T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.152 146708 chr16 716480 716480 C G rs775647754 WDR90 Nonsynonymous SNV T1589R 0 0 0 2 0 0 0.005 0 0 0 0 0 4.591 146709 chr14 77297653 77297653 T A LRRC74A Nonsynonymous SNV Y109N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.904 146710 chr16 6704631 6704631 G A RBFOX1 Nonsynonymous SNV V32M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 146711 chr3 49569966 49569966 C T rs199795910 DAG1 Synonymous SNV I674I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 146712 chr16 67178214 67178214 G T rs145751886 C16orf70 Synonymous SNV A271A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 146713 chr16 67189486 67189486 G A rs11574518 TRADD Synonymous SNV L75L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 9.673 146714 chr16 67315038 67315038 G C rs145862477 PLEKHG4 Nonsynonymous SNV R174P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 146715 chr16 67487539 67487539 G A rs762823560 ATP6V0D1 Synonymous SNV I70I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 146716 chr3 184045102 184045102 G A rs775282496 EIF4G1 Nonsynonymous SNV R981H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 146717 chr4 154625807 154625807 C T rs369920228 TLR2 Nonsynonymous SNV S583L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.299 146718 chr2 241874932 241874932 G A rs575869859 CROCC2 Nonsynonymous SNV R699Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.57 146719 chr16 70190359 70190359 C T rs143130020 LOC400541 0 0 0.003 0 0 0 0 1 0 0 0 0 6.789 146720 chr4 155410670 155410670 C - DCHS2 G613Vfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 146721 chr16 705440 705440 G T rs760625310 WDR90 Nonsynonymous SNV G564C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 146722 chr3 186522456 186522456 A G rs190809541 RFC4 Nonsynonymous SNV L16P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 0.398 146723 chr14 88414127 88414127 C T rs200231860 GALC Synonymous SNV P455P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.96 146724 chr3 186791996 186791996 G A rs192611052 ST6GAL1 Nonsynonymous SNV R285H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 146725 chr16 71483580 71483580 G A rs376275643 ZNF23 Synonymous SNV P58P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.419 146726 chr3 53267269 53267269 A G TKT Synonymous SNV D217D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.757 146727 chr2 242573122 242573122 T G THAP4 Nonsynonymous SNV Q150H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.74 146728 chr14 90455353 90455353 A G rs150288037 TDP1 Synonymous SNV L412L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.032 146729 chr2 242684264 242684264 G C D2HGDH Nonsynonymous SNV K141N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 146730 chr4 2460472 2460472 G A CFAP99 Nonsynonymous SNV R395H 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 1.827 146731 chr16 73127644 73127644 A G rs184906072 HCCAT5 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 146732 chr4 100006316 100006316 T C ADH5 Nonsynonymous SNV I22V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.26 146733 chr4 100475090 100475090 T A TRMT10A Nonsynonymous SNV D166V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 146734 chr14 94754643 94754643 C T rs61754487 SERPINA10 Stop gain W324X 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 38 146735 chr3 72937595 72937595 C G GXYLT2 Nonsynonymous SNV R71G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.29 146736 chr2 27279591 27279591 G A rs202108566 AGBL5 Nonsynonymous SNV R489H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 34 146737 chr2 27352720 27352720 G A rs754948236 ABHD1 Nonsynonymous SNV R239H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.343 146738 chr14 95028137 95028137 G A rs1056064692 SERPINA4 Nonsynonymous SNV A29T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.313 146739 chr3 8923089 8923089 G A rs45521033 RAD18 Synonymous SNV A480A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 5.964 146740 chr16 2903132 2903132 C G PRSS22 Nonsynonymous SNV A306P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.26 146741 chr16 2903138 2903138 G A PRSS22 Nonsynonymous SNV L304F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.244 146742 chr16 2906088 2906088 G C rs199522327 PRSS22 Nonsynonymous SNV F92L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 146743 chr4 106155903 106155903 G C rs374509999 TET2 Synonymous SNV S268S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.143 146744 chr3 9486812 9486812 T A SETD5 Nonsynonymous SNV L423Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 146745 chr4 38777060 38777062 GTT - TLR10 T52del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 146746 chr16 82101832 82101832 C G rs140926616 HSD17B2 Nonsynonymous SNV T108R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 17.34 146747 chr14 100373984 100373984 A G EML1 Nonsynonymous SNV T340A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.2 146748 chr4 110687829 110687829 T G rs749553820 CFI Nonsynonymous SNV N70T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 12.48 146749 chr4 186299310 186299310 T A rs150704942 LRP2BP Nonsynonymous SNV N11Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23.1 146750 chr6 168910670 168910670 G A rs550409938 SMOC2 Nonsynonymous SNV A54T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.9 146751 chr4 113436521 113436521 G A rs72900943 NEUROG2 Synonymous SNV A37A 0.007 0 0 1 8 0 0.003 0 0 0 0 0 10.96 146752 chr3 27213320 27213320 A T rs756951344 NEK10 Nonsynonymous SNV S253T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.58 146753 chr4 100229016 100229016 C T rs75967634 ADH1B Nonsynonymous SNV R370H 0.004 0.005 0.01 2 5 2 0.005 3 0 0 0 0 29.9 146754 chr16 4644770 4644770 G A rs372641177 C16orf96 Synonymous SNV G1031G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.685 146755 chr3 29628642 29628642 A G RBMS3 Synonymous SNV A114A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.689 146756 chr4 100571096 100571096 C T rs150236393 C4orf54 Synonymous SNV Q1570Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.486 146757 chr16 4935056 4935056 T G PPL Synonymous SNV R1200R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.119 146758 chr4 121957606 121957606 C T NDNF Nonsynonymous SNV R507K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 146759 chr4 48854100 48854100 A G OCIAD1-AS1 0 0.005 0 1 0 2 0.003 0 0 0 0 0 2.569 146760 chr16 88495287 88495287 C G ZNF469 Nonsynonymous SNV P470R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 146761 chr2 43010498 43010498 C A HAAO Synonymous SNV L102L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.89 146762 chr4 24810061 24810061 C T CCDC149 Nonsynonymous SNV G514S 0.004 0 0 0 5 0 0 0 0 0 0 0 1.186 146763 chr2 43939482 43939482 A G PLEKHH2 Nonsynonymous SNV Q807R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.61 146764 chr3 38595797 38595797 A T rs199473278 SCN5A Nonsynonymous SNV F1578I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.3 146765 chr4 265742 265742 C T rs375952545 ZNF732 Nonsynonymous SNV G302R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 146766 chr6 26234954 26234954 C T rs371497835 H1-3 Nonsynonymous SNV A70T 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 21.1 146767 chr4 57777448 57777448 C G REST Nonsynonymous SNV P215R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 146768 chr4 113539226 113539226 T C rs375761372 ZGRF1 Nonsynonymous SNV N658D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.53 146769 chr4 1374718 1374718 C T rs754544876 UVSSA Synonymous SNV L601L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 146770 chr6 27841082 27841082 A G rs200165469 H4C13 Synonymous SNV D69D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.118 146771 chr4 140641398 140641398 G A rs371995834 MAML3 Synonymous SNV N832N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.057 146772 chr16 89258139 89258139 - CCG rs546499570 CDH15 P488_G489insP 0 0 0.003 0 0 0 0 1 0 0 0 0 146773 chr4 144435074 144435074 C T rs377295689 SMARCA5-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.8 146774 chr2 61181107 61181107 G A rs762257934 PUS10 Nonsynonymous SNV S161F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 146775 chr4 126373545 126373545 C T rs201859188 FAT4 Nonsynonymous SNV R3794W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 146776 chr4 128808556 128808556 A G rs373379984 PLK4 Nonsynonymous SNV N423S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 146777 chr2 63833085 63833085 T G MDH1 Nonsynonymous SNV S179A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 146778 chr17 15207442 15207442 G A rs758376515 TEKT3 Synonymous SNV D428D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.793 146779 chr4 155411890 155411890 C G rs569237329 DCHS2 Synonymous SNV L206L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.941 146780 chr6 36690275 36690275 C T rs193121565 RAB44 Synonymous SNV G788G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.606 146781 chr4 143067062 143067062 C A INPP4B Nonsynonymous SNV G551C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 146782 chr6 36976710 36976710 G A rs138397340 FGD2 Nonsynonymous SNV V57I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.215 146783 chr6 38224215 38224215 A G rs376734377 BTBD9 Nonsynonymous SNV M443T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.35 146784 chr4 55973954 55973954 A T rs139156665 KDR Nonsynonymous SNV H454Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.005 146785 chr2 239353055 239353055 C T ASB1 Synonymous SNV T88T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.13 146786 chr4 79462120 79462120 C A rs200693022 FRAS1 Synonymous SNV R3961R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.09 146787 chr3 48669469 48669469 C T rs201037152 SLC26A6 Nonsynonymous SNV G164R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 146788 chr3 49153482 49153482 C T rs751110346 USP19 Nonsynonymous SNV R374Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.71 146789 chr17 18916790 18916790 C T rs759602693 SLC5A10 Synonymous SNV N323N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 146790 chr4 169227787 169227787 T C rs114673603 DDX60 Nonsynonymous SNV I117V 0.003 0.01 0.01 0 3 4 0 3 0 0 0 0 Benign 0.002 146791 chr4 82355042 82355042 G A rs201599232 RASGEF1B Nonsynonymous SNV R384W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 146792 chr3 49457715 49457715 T A rs762084597 AMT Nonsynonymous SNV N78Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.1 146793 chr6 41037832 41037832 G A rs144679838 OARD1 Stop gain R76X 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 39 146794 chr17 19871746 19871746 T C rs112886803 AKAP10 Synonymous SNV S39S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.332 146795 chr17 20884884 20884884 C T rs36028918 LOC339260 0 0 0.024 0 0 0 0 7 0 0 0 0 6.623 146796 chr16 48175185 48175185 G A rs759436386 ABCC12 Stop gain Q119X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 146797 chr3 50327829 50327829 T C rs587720835 IFRD2 Nonsynonymous SNV T149A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.38 146798 chr4 15690504 15690504 T C rs371969327 FAM200B Nonsynonymous SNV M635T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 146799 chr2 242194540 242194540 G C rs147572258 HDLBP Nonsynonymous SNV P339A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.2 146800 chr4 158238840 158238840 T A GRIA2 Nonsynonymous SNV Y233N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 146801 chr4 18023222 18023222 T C rs749889051 LCORL Synonymous SNV V51V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.97 146802 chr17 2278807 2278807 C G rs770425401 SGSM2 Nonsynonymous SNV L663V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.522 146803 chr2 97490857 97490857 G A CNNM3 Nonsynonymous SNV E430K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 146804 chr3 52950206 52950206 G A rs151052292 SFMBT1 Synonymous SNV H480H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 9.691 146805 chr4 186545044 186545044 G A rs759227064 SORBS2 Synonymous SNV R413R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.538 146806 chr5 10391724 10391724 C T MARCHF6 Nonsynonymous SNV A111V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 146807 chr2 29274898 29274898 - CAGAGGGGTGGC rs200117890 TOGARAM2 A813_P814insRGVA 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 146808 chr2 29293862 29293864 GGG - rs138020654 PCARE P1089del 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 146809 chr2 29296373 29296373 G T rs77003681 PCARE Nonsynonymous SNV A252D 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 24.7 146810 chr3 57261947 57261947 G C rs79282761 APPL1 Synonymous SNV T12T 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 13.58 146811 chr3 57293978 57293978 C G APPL1 Nonsynonymous SNV A530G 0 0.003 0 0 0 1 0 0 0 0 0 0 31 146812 chr3 57882659 57882659 G - SLMAP D18Mfs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 146813 chr16 66974481 66974481 T C rs182454684 CES2 Synonymous SNV S233S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.022 146814 chr6 50811026 50811026 A C rs115226995 TFAP2B Nonsynonymous SNV N435T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Likely benign 9.564 146815 chr3 69027522 69027522 T C rs769582239 EOGT Nonsynonymous SNV T383A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 146816 chr5 114607039 114607039 T C rs202145172 CCDC112 Synonymous SNV L401L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 2.371 146817 chr15 65627656 65627656 T C rs144142798 IGDCC3 Nonsynonymous SNV S220G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 27.1 146818 chr17 3560069 3560069 G A rs138270433 CTNS Nonsynonymous SNV V221M 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Uncertain significance 6.117 146819 chr2 39224112 39224112 T C rs8192671 SOS1 Nonsynonymous SNV N1011S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 13.72 146820 chr2 43926974 43926974 G A rs193173021 PLEKHH2 Nonsynonymous SNV G293R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 10.64 146821 chr17 38172805 38172805 G A rs143679996 CSF3 Nonsynonymous SNV G88E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.6 146822 chr17 38251933 38251933 G A rs143682026 NR1D1 Nonsynonymous SNV P338S 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 7.59 146823 chr17 38906844 38906844 G C rs766873853 KRT25 Nonsynonymous SNV H321Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.698 146824 chr2 55096381 55096381 C T rs191694417 EML6 Synonymous SNV H705H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 13.47 146825 chr5 135394863 135394863 G A rs377713090 TGFBI Nonsynonymous SNV R588Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.8 146826 chr2 61515855 61515855 G A rs149074165 USP34 Nonsynonymous SNV A1569V 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 22.8 146827 chr15 77907065 77907065 G A rs765631433 LINGO1 Nonsynonymous SNV T395M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 146828 chr5 138286956 138286956 C T rs61744666 SIL1 Synonymous SNV G311G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.629 146829 chr6 90438788 90438788 C G MDN1 Nonsynonymous SNV Q1737H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 146830 chr2 66664979 66664979 C T rs922651749 MEIS1 Synonymous SNV H41H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.68 146831 chr5 138773066 138773066 T C DNAJC18 Synonymous SNV V74V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.054 146832 chr4 53494241 53494241 C T rs28503210 USP46 Synonymous SNV Q62Q 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 11.82 146833 chr4 53610275 53610275 T C rs78548865 ERVMER34-1 Synonymous SNV V471V 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 0.103 146834 chr2 69201799 69201799 G A rs139153499 GKN1 Nonsynonymous SNV R11H 0.01 0.01 0 3 12 4 0.008 0 0 0 0 0 13.42 146835 chr6 99852543 99852543 C T rs144012623 PNISR Synonymous SNV L346L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.95 146836 chr6 99912592 99912592 T C rs142018914 USP45 Nonsynonymous SNV N341S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 146837 chr4 4276317 4276317 C A rs143281420 LYAR Nonsynonymous SNV K203N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 146838 chr5 140750098 140750098 T C rs373245420 PCDHGB3 Nonsynonymous SNV L46P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 146839 chr17 39923644 39923644 T C rs781830615 JUP Nonsynonymous SNV N299S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 146840 chr16 85699830 85699830 C T GSE1 Nonsynonymous SNV P899S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 17.6 146841 chr5 140864809 140864809 C A rs747029550 PCDHGC4 Nonsynonymous SNV H23Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.66 146842 chr5 143545050 143545050 A C rs769933056 YIPF5 Nonsynonymous SNV S23A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.976 146843 chr5 143587022 143587022 G A rs150713689 KCTD16 Nonsynonymous SNV A249T 0.011 0.01 0 1 13 4 0.003 0 0 0 0 0 24.8 146844 chr5 130982824 130982824 C A rs779625091 FNIP1 Synonymous SNV G1099G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.94 146845 chr4 70823514 70823514 G A rs150033877 CSN2 Synonymous SNV H50H 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.305 146846 chr15 89417157 89417157 G A rs755055654 ACAN Nonsynonymous SNV R2473Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 146847 chr5 145634564 145634564 A G rs367744615 RBM27 Synonymous SNV R501R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.584 146848 chr5 132199861 132199861 C T GDF9 Nonsynonymous SNV R122Q 0.007 0 0 2 8 0 0.005 0 1 0 0 0 13.95 146849 chr15 90023569 90023569 A G rs150439539 RHCG Nonsynonymous SNV I198T 0.007 0.003 0 0 8 1 0 0 0 0 0 0 26.5 146850 chr5 133536086 133536086 C T rs139617743 PPP2CA Synonymous SNV E161E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.65 146851 chr5 147889186 147889186 G A rs143390252 HTR4 Synonymous SNV I303I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.701 146852 chr15 90191865 90191865 A G KIF7 Nonsynonymous SNV V355A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 146853 chr4 6302750 6302753 CTCT - rs760337383 WFS1 V412Sfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 146854 chr4 151186882 151186882 G A rs145709687 LRBA Nonsynonymous SNV R2850C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 146855 chr17 46266790 46266790 C T rs750956834 SKAP1 Nonsynonymous SNV S118N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 146856 chr16 89016822 89016822 C T rs201046655 LOC100129697 Nonsynonymous SNV P99L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.6 146857 chr3 133347287 133347287 A T TOPBP1 Nonsynonymous SNV V903E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 146858 chr4 76924756 76924756 T C rs61750813 CXCL9 Nonsynonymous SNV T125A 0.003 0 0 0 4 0 0 0 0 0 0 0 4.723 146859 chr16 89178531 89178531 C T rs143793502 ACSF3 Nonsynonymous SNV P20L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 27.1 146860 chr3 101483912 101483912 C G rs199963848 CEP97 Synonymous SNV S646S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.6 146861 chr3 134327641 134327641 T C rs763243815 KY Nonsynonymous SNV I272V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.1 146862 chr15 94928754 94928754 C T rs760003776 MCTP2 Synonymous SNV S184S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.86 146863 chr3 138669206 138669206 G C FOXL2NB Nonsynonymous SNV S107T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.08 146864 chr4 15964451 15964451 C T rs142331717 FGFBP2 Nonsynonymous SNV R101H 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 12.03 146865 chr4 83350506 83350506 G C rs753527264 HNRNPDL Nonsynonymous SNV P113R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.02 146866 chr5 154395970 154395970 A G rs61741703 KIF4B Nonsynonymous SNV K851E 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 24.6 146867 chr17 54969484 54969484 C T rs142382736 TRIM25 Synonymous SNV P490P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 146868 chr5 156592738 156592738 G A rs755221322 FAM71B Nonsynonymous SNV R148C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 146869 chr3 148884979 148884979 G A HPS3 Synonymous SNV P751P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.54 146870 chr3 112732201 112732201 C T rs765446690 NEPRO Nonsynonymous SNV S8N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 146871 chr5 140725419 140725419 C T rs778125915 PCDHGA3 Nonsynonymous SNV R607C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 146872 chr16 314706 314706 G A rs774972903 FAM234A Nonsynonymous SNV A480T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.56 146873 chr3 113082119 113082119 T C rs761245186 CFAP44 Nonsynonymous SNV K936R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 146874 chr16 597693 597693 C T rs368756845 CAPN15 Synonymous SNV R285R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 4.676 146875 chr17 59853772 59853772 G A rs147755155 BRIP1 Nonsynonymous SNV P696L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 146876 chr5 140869229 140869229 G A rs2233601 PCDHGC5 Nonsynonymous SNV R141H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.55 146877 chr16 705428 705428 C G WDR90 Nonsynonymous SNV Q560E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 146878 chr3 15637903 15637903 T A rs146264180 HACL1 Nonsynonymous SNV Y72F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.1 146879 chr4 17885585 17885585 G T LCORL Synonymous SNV R523R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.838 146880 chr3 16273334 16273334 C G rs1005714379 GALNT15 Nonsynonymous SNV A603G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.011 146881 chr4 183673133 183673133 G A rs373237357 TENM3 Synonymous SNV A1270A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.12 146882 chr5 170149737 170149737 G A rs147147696 KCNIP1 Synonymous SNV S125S 0.005 0.01 0 4 6 4 0.01 0 0 0 0 0 13.24 146883 chr3 121409763 121409763 T C rs574983211 GOLGB1 Synonymous SNV L2736L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.88 146884 chr4 95444963 95444963 C A rs151288647 PDLIM5 Nonsynonymous SNV T62N 0.004 0 0 0 5 0 0 0 0 0 0 0 24.8 146885 chr17 63010756 63010756 T C GNA13 Synonymous SNV E156E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.385 146886 chr5 147550501 147550501 C T rs771878984 SPINK14 Nonsynonymous SNV P26S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.303 146887 chr7 123672584 123672584 G A TMEM229A Synonymous SNV D158D 0 0.003 0 0 0 1 0 0 0 0 0 0 11 146888 chr4 88401541 88401541 G A rs150376666 SPARCL1 Synonymous SNV D475D 0.009 0 0 3 10 0 0.008 0 0 0 0 0 1.207 146889 chr17 4802621 4802640 CGGGGGGCCTCGGGCGGCGG - rs932032926 CHRNE P358Gfs*32 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 146890 chr17 4859306 4859306 A C rs1032755883 ENO3 Nonsynonymous SNV N269T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.72 146891 chr7 124404152 124404152 C T rs767646349 GPR37 Synonymous SNV R293R 0 0.005 0 0 0 2 0 0 0 0 0 0 15.92 146892 chr5 179142928 179142928 C T CANX Synonymous SNV F250F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.845 146893 chr16 1823266 1823271 GCCAGG - rs989061245 EME2 Q14_G15del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 146894 chr5 179222680 179222680 G T LTC4S Nonsynonymous SNV A52S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 146895 chr4 90849046 90849046 A G rs146889368 MMRN1 Synonymous SNV V352V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.69 146896 chr3 124732087 124732087 T G HEG1 Nonsynonymous SNV K779T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.902 146897 chr3 183824081 183824081 C T rs141615038 HTR3E Nonsynonymous SNV A390V 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 7.297 146898 chr7 129916538 129916538 C T rs201088138 CPA2 Nonsynonymous SNV P219L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.1 146899 chr5 180475150 180475150 C T rs112433732 BTNL9 Synonymous SNV I111I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 146900 chr4 996109 996109 C T IDUA Nonsynonymous SNV P210L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.32 146901 chr5 156479526 156479526 T C rs184276926 HAVCR1 Synonymous SNV P173P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.18 146902 chr17 7306672 7306672 C A TMEM256 Nonsynonymous SNV S52I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 146903 chr16 2848500 2848511 GGCGCTGCTGCT - rs568540119 PRSS41 L11_A14del 0.003 0 0.007 1 3 0 0.003 2 1 0 0 0 146904 chr16 3078416 3078416 - G rs749922849 BICDL2 Frameshift insertion L431Pfs*73 0.008 0 0.003 3 9 0 0.008 1 0 0 0 0 146905 chr5 159519792 159519794 GAG - PWWP2A S623del 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 146906 chr5 131326589 131326589 G C ACSL6 Synonymous SNV A114A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.084 146907 chr5 167627090 167627090 G A rs948863277 TENM2 Synonymous SNV K896K 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 12.07 146908 chr5 131939078 131939078 A G rs587782573 RAD50 Nonsynonymous SNV K765R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Uncertain significance 23.4 146909 chr5 167937607 167937607 G A rs2290629 RARS1 Synonymous SNV S456S 0.009 0.01 0.003 2 11 4 0.005 1 1 0 0 0 Benign 7.373 146910 chr5 168123313 168123313 A G rs1864954 SLIT3 Synonymous SNV C1029C 0.013 0.018 0.01 1 15 7 0.003 3 1 0 0 0 1.437 146911 chr16 4625650 4625650 C G C16orf96 Nonsynonymous SNV P390R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 146912 chr16 4625813 4625813 C G C16orf96 Synonymous SNV R444R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.836 146913 chr5 132388038 132388038 C T rs143631835 HSPA4 Synonymous SNV D32D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 15.89 146914 chr7 141619004 141619004 C T rs200060570 OR9A4 Nonsynonymous SNV T110I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.98 146915 chr17 7466873 7466873 C T rs147458538 SENP3 Synonymous SNV G160G 0.003 0.01 0.007 2 3 4 0.005 2 0 0 0 0 14.06 146916 chr5 40681287 40681287 C A rs761386960 PTGER4 Synonymous SNV T64T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 146917 chr5 171509416 171509416 G A rs148644362 STK10 Nonsynonymous SNV R635C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 146918 chr5 171533707 171533707 C A rs552023770 STK10 Synonymous SNV P235P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.5 146919 chr17 76120649 76120649 C T rs201267987 TMC6 Nonsynonymous SNV G283S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 0.034 146920 chr7 142572352 142572352 G A rs143647258 TRPV6 Synonymous SNV S488S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.959 146921 chr5 137089039 137089065 GCCGCCGCCGCCTCCGTAGGCATTGTA - HNRNPA0 Y231_G239del 0.002 0 0 0 2 0 0 0 0 0 0 0 146922 chr17 76421620 76421620 C T DNAH17 Synonymous SNV L4316L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 146923 chr4 54244011 54244011 G T rs775845667 FIP1L1 Synonymous SNV S2S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 146924 chr5 176304225 176304225 C T rs76680158 UNC5A Nonsynonymous SNV P471S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 146925 chr17 76495399 76495399 - C rs142690219 DNAH17-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 146926 chr5 43700321 43700321 A G rs78818665 NNT Nonsynonymous SNV I862V 0.003 0.013 0.007 1 4 5 0.003 2 0 0 0 0 Benign 24.2 146927 chr5 138163402 138163402 G C rs758284033 CTNNA1 Nonsynonymous SNV G250R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.3 146928 chr5 13867913 13867913 A G rs148451151 DNAH5 Synonymous SNV D1341D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.134 146929 chr4 619683 619683 G A PDE6B Nonsynonymous SNV D90N 0 0.005 0 0 0 2 0 0 0 0 0 0 31 146930 chr3 145924454 145924454 C A rs143201630 PLSCR4 Nonsynonymous SNV L56F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.038 146931 chr4 672544 672544 A G rs779759060 MYL5 Nonsynonymous SNV E34G 0 0.005 0 0 0 2 0 0 0 0 0 0 31 146932 chr5 178578184 178578184 C A rs1029971963 ADAMTS2 Synonymous SNV V549V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.663 146933 chr3 148459552 148459552 G T rs12721225 AGTR1 Nonsynonymous SNV A244S 0.005 0.013 0.003 3 6 5 0.008 1 0 0 0 0 Benign 25.4 146934 chr5 179263501 179263501 G A rs143511494 SQSTM1 Nonsynonymous SNV G411S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 146935 chr5 64875259 64875259 G A rs143955881 PPWD1 Nonsynonymous SNV R234Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 146936 chr5 140855770 140855770 T C PCDHGC3 Synonymous SNV A29A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.435 146937 chr16 23415101 23415101 G A rs548129734 COG7 Nonsynonymous SNV R573W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 146938 chr16 23555918 23555918 G A rs116657756 EARS2 Synonymous SNV T134T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.55 146939 chr16 23649446 23649446 T C rs138789658 PALB2 Nonsynonymous SNV K18R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 146940 chr17 80041900 80041900 G A rs150176506 FASN Synonymous SNV A1683A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.34 146941 chr4 73943142 73943142 C G ANKRD17 Nonsynonymous SNV G2255A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 146942 chr5 142500664 142500664 C T rs148277580 ARHGAP26 Synonymous SNV I550I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.14 146943 chr5 140235705 140235705 G C rs782167466 PCDHA10 Nonsynonymous SNV E24D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 146944 chr5 145252350 145252350 A G rs76180713 GRXCR2 Nonsynonymous SNV M61T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.164 146945 chr17 80545030 80545030 G A rs35974241 FOXK2 Synonymous SNV T556T 0.011 0.003 0.01 4 13 1 0.01 3 0 0 0 0 Benign 19.72 146946 chr5 33944837 33944837 G A rs766418641 SLC45A2 Synonymous SNV T503T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.35 146947 chr3 169548371 169548371 G A rs774922199 LRRIQ4 Nonsynonymous SNV R429Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 146948 chr17 8076870 8076870 G A rs78363053 SNORD118 0 0 0.031 0 0 0 0 9 0 0 0 0 1.295 146949 chr17 8090294 8090294 A G rs76800617 MIR4521 0 0 0.024 0 0 0 0 7 0 0 0 0 3.778 146950 chr5 74986312 74986312 C T rs201831831 POC5 Nonsynonymous SNV V266I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.121 146951 chr5 148406973 148406973 G A rs17795193 SH3TC2 Synonymous SNV D774D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 146952 chr4 77476860 77476860 G A rs751839385 SHROOM3 Synonymous SNV K89K 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 10.35 146953 chr5 35806960 35806960 T C rs147968150 SPEF2 Nonsynonymous SNV M1721T 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 19.69 146954 chr17 21087056 21087056 C T DHRS7B Synonymous SNV D138D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.03 146955 chr16 30709505 30709505 - GTG LOC730183 P41_L42insP 0.001 0.003 0 0 1 1 0 0 0 0 0 0 146956 chr5 79855423 79855423 C T rs147332608 ANKRD34B Nonsynonymous SNV S139N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.94 146957 chr5 149360789 149360789 C T rs200897133 SLC26A2 Nonsynonymous SNV R545C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 146958 chr4 85715779 85715779 C T rs78715516 WDFY3 Nonsynonymous SNV R1127H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 146959 chr7 23339020 23339020 C T rs371357761 MALSU1 Nonsynonymous SNV R17C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.72 146960 chr18 2739448 2739448 T A rs76290319 SMCHD1 Synonymous SNV P1148P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.25 146961 chr5 156589641 156589641 A G rs987290773 FAM71B Synonymous SNV P545P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 146962 chr7 2583448 2583448 C T rs755302526 BRAT1 Synonymous SNV A18A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.15 146963 chr4 88732639 88732639 C T IBSP Synonymous SNV N177N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.73 146964 chr18 29046521 29046521 G T rs199540300 DSG3 Synonymous SNV T480T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.537 146965 chr3 48508069 48508069 C T TREX1 Synonymous SNV A5A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.96 146966 chr7 30491204 30491204 G A rs772160943 NOD1 Nonsynonymous SNV A610V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.035 146967 chr3 50112706 50112706 C A rs148501050 RBM6 Synonymous SNV G541G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.15 146968 chr18 34297963 34297963 C T rs146524905 FHOD3 Nonsynonymous SNV A709V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 146969 chr18 43205821 43205821 G A SLC14A2 Stop gain W108X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 146970 chr3 50645295 50645295 C T CISH Nonsynonymous SNV D174N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.2 146971 chr5 156932808 156932808 G A rs377513607 ADAM19 Synonymous SNV S333S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.06 146972 chr3 52457170 52457170 A G rs780468872 PHF7 Nonsynonymous SNV H289R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.253 146973 chr5 162898428 162898428 C G rs376665983 HMMR Synonymous SNV L116L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.591 146974 chr18 51820030 51820030 C G rs200144217 POLI Nonsynonymous SNV D351E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.817 146975 chr6 110620231 110620231 C T rs866514613 METTL24 Nonsynonymous SNV R30H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 146976 chr5 112389628 112389628 C T rs144622187 MCC Nonsynonymous SNV D558N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 146977 chr16 69366756 69366756 G A rs113368039 COG8 Synonymous SNV R481R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.23 146978 chr5 176951670 176951670 C T rs370392279 FAM193B Synonymous SNV P604P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 8.53 146979 chr3 53326488 53326488 G T rs34229192 DCP1A Nonsynonymous SNV P173T 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 14.17 146980 chr3 53326592 53326592 G C rs35988197 DCP1A Nonsynonymous SNV A138G 0.009 0.003 0.003 1 10 1 0.003 1 0 0 0 0 24 146981 chr17 39389211 39389211 G A KRTAP9-3 Nonsynonymous SNV C153Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 146982 chr5 176308755 176308755 C T rs777011491 HK3 Synonymous SNV Q777Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.845 146983 chr5 176317836 176317836 G A rs141123858 HK3 Nonsynonymous SNV T174M 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 25.8 146984 chr5 176409487 176409487 A G rs780099340 UIMC1 Nonsynonymous SNV S44P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 146985 chr18 66348256 66348256 C T rs149874821 TMX3 Nonsynonymous SNV V192I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.04 146986 chr3 7494325 7494325 T C GRM7 Synonymous SNV Y402Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.151 146987 chr5 176931140 176931140 G A rs61749655 DOK3 Synonymous SNV N389N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.743 146988 chr3 81691994 81691994 A G GBE1 Synonymous SNV Y310Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.107 146989 chr5 90079716 90079716 C T rs567519802 ADGRV1 Nonsynonymous SNV R4499C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 33 146990 chr5 1878823 1878823 C G rs753995251 IRX4 Nonsynonymous SNV E274Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 146991 chr6 129704366 129704366 C G LAMA2 Nonsynonymous SNV R1687G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 146992 chr3 39144190 39144190 A T rs139017482 GORASP1 Nonsynonymous SNV S109R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.79 146993 chr6 131220689 131220689 T C rs142296383 EPB41L2 Nonsynonymous SNV Q393R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 146994 chr3 97806778 97806778 C T rs755129719 OR5AC2 Synonymous SNV Y254Y 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 12.25 146995 chr5 137028033 137028033 C T rs182805654 KLHL3 Nonsynonymous SNV R74H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 146996 chr18 72345988 72345988 G C rs372408823 ZNF407 Nonsynonymous SNV V1005L 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.001 146997 chr16 84097037 84097037 T A rs779368224 MBTPS1 Nonsynonymous SNV L815F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.4 146998 chr17 40342322 40342322 G A rs759692538 GHDC Synonymous SNV T448T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.72 146999 chr17 40761127 40761127 G A rs200090798 RETREG3 Synonymous SNV C72C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.94 147000 chr17 40831684 40831684 G A rs61730696 CCR10 Nonsynonymous SNV R326W 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 22.9 147001 chr6 102483438 102483438 A T rs200557591 GRIK2 Nonsynonymous SNV M770L 0.001 0 0 0 1 0 0 0 0 0 0 0 18 147002 chr6 105609357 105609357 C G POPDC3 Nonsynonymous SNV C143S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 147003 chr3 42956832 42956834 CTT - rs532197560 ZNF662 L450del 0.002 0 0.014 0 2 0 0 4 0 0 0 0 147004 chr3 42984107 42984107 C T rs80205879 KRBOX1 Nonsynonymous SNV R119C 0.004 0.005 0.014 2 5 2 0.005 4 0 0 0 0 22.3 147005 chr17 41365196 41365196 G A rs111480047 TMEM106A Nonsynonymous SNV V46M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 11.58 147006 chr17 41611332 41611332 G C rs114284282 ETV4 Nonsynonymous SNV T54S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 22.8 147007 chr4 100349277 100349277 C T rs147020637 ADH7 Nonsynonymous SNV R117H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.2 147008 chr5 38904527 38904527 C T rs147586955 OSMR Stop gain R403X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 147009 chr3 44310772 44310772 C T rs768912573 TOPAZ1 Synonymous SNV F1075F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 147010 chr6 108029139 108029139 G A rs565088899 SCML4 Synonymous SNV D108D 0.003 0 0 0 3 0 0 0 0 0 0 0 10.49 147011 chr5 140085308 140085308 C T rs745330064 ZMAT2 Synonymous SNV F189F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.16 147012 chr19 10091363 10091363 A G rs151307334 COL5A3 Synonymous SNV D855D 0.008 0.003 0.01 4 9 1 0.01 3 0 0 0 0 Benign 0.018 147013 chr16 85011546 85011546 G A rs139333882 ZDHHC7 Synonymous SNV V201V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.55 147014 chr16 85100707 85100707 G A rs144475048 KIAA0513 Synonymous SNV S10S 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 5.486 147015 chr19 10097279 10097279 C T rs150644862 COL5A3 Nonsynonymous SNV E732K 0 0 0.007 2 0 0 0.005 2 0 0 0 0 25.3 147016 chr16 87637902 87637902 - CTGCTG JPH3 A157_V158insAA 0.003 0 0 2 4 0 0.005 0 0 0 0 0 147017 chr5 140201764 140201766 AAG - rs782597042 PCDHA5 E136del 0 0.003 0 0 0 1 0 0 0 0 0 0 147018 chr16 87868098 87868098 T C rs369958539 SLC7A5 Nonsynonymous SNV I464V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 147019 chr7 75609719 75609719 C T rs368468521 POR Synonymous SNV Y143Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.59 147020 chr5 44809098 44809098 C A rs112901974 MRPS30 Nonsynonymous SNV R12S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 147021 chr4 111427844 111427844 A G ENPEP Nonsynonymous SNV N324D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.06 147022 chr19 10469919 10469919 G A rs55882956 TYK2 Nonsynonymous SNV R703W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 26.4 147023 chr4 114278919 114278919 C T ANK2 Nonsynonymous SNV R3049W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 147024 chr6 155504593 155504593 T C rs763607271 TIAM2 Nonsynonymous SNV L1008P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.71 147025 chr16 89017529 89017529 G A LOC100129697 Nonsynonymous SNV V335I 0.003 0 0 1 4 0 0.003 0 1 0 0 0 0.594 147026 chr6 157803140 157803140 C G rs200296666 ZDHHC14 Nonsynonymous SNV H29Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.39 147027 chr19 10890999 10890999 C G rs183520745 MIR4748 0 0 0.003 0 0 0 0 1 0 0 0 0 4.32 147028 chr3 50379549 50379549 G A rs906293582 ZMYND10 Nonsynonymous SNV T294I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 147029 chr3 51312518 51312518 C T rs185670675 DOCK3 Nonsynonymous SNV R853C 0.003 0 0 0 3 0 0 0 0 0 0 0 32 147030 chr3 51430445 51430445 T C RBM15B Nonsynonymous SNV S539P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 147031 chr5 64880877 64880877 C T rs770368703 PPWD1 Synonymous SNV S367S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 147032 chr16 89930004 89930004 C T rs1008143569 SPIRE2 Synonymous SNV L566L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.87 147033 chr5 54579037 54579037 T A DHX29 Synonymous SNV G653G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.032 147034 chr6 133785975 133785975 G A rs17854076 EYA4 Synonymous SNV T207T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 147035 chr5 149439322 149439322 C G rs748641028 CSF1R Nonsynonymous SNV Q691H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.6 147036 chr7 97822996 97822996 T C rs572730019 LMTK2 Synonymous SNV I1073I 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 2.881 147037 chr5 66441188 66441188 C T rs200728229 MAST4 Synonymous SNV I831I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.33 147038 chr19 14578407 14578407 G A rs761006104 PKN1 Nonsynonymous SNV E588K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 147039 chr4 141380734 141380734 G T rs887998044 MGAT4D Nonsynonymous SNV T270K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.016 147040 chr17 56448385 56448385 G A RNF43 Synonymous SNV L88L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.41 147041 chr19 1482396 1482396 G A rs61733913 PCSK4 Nonsynonymous SNV T592I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.34 147042 chr8 103846474 103846474 C T rs144533065 AZIN1 Synonymous SNV T228T 0 0.005 0 0 0 2 0 0 0 0 0 0 12.05 147043 chr4 15004575 15004575 T C rs935454200 CPEB2 Nonsynonymous SNV M93T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.4 147044 chr17 3384988 3384988 G C rs781156670 ASPA Nonsynonymous SNV D110H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 147045 chr3 57494915 57494915 G T rs115576589 DNAH12 Nonsynonymous SNV P165Q 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 12.6 147046 chr17 62049575 62049575 T G rs148028364 SCN4A Nonsynonymous SNV M135L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.125 147047 chr3 60522620 60522620 C A FHIT Nonsynonymous SNV V26L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 147048 chr4 15482860 15482860 C T rs755176887 CC2D2A Nonsynonymous SNV T96M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.293 147049 chr3 63985157 63985157 C A rs180696871 ATXN7 Nonsynonymous SNV S920R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 23.5 147050 chr5 156347505 156347505 A G rs138087009 TIMD4 Nonsynonymous SNV M313T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.083 147051 chr5 76926305 76926305 G A OTP Synonymous SNV N254N 0.003 0 0 0 3 0 0 0 0 0 0 0 1.522 147052 chr17 4451278 4451280 AGC - rs750572728 MYBBP1A L601del 0.001 0 0 0 1 0 0 0 0 0 0 0 147053 chr8 11831566 11831566 T C rs200331282 DEFB136 Synonymous SNV V39V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.24 147054 chr5 162881008 162881008 T C rs376604760 NUDCD2 Nonsynonymous SNV K97E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 147055 chr5 79617074 79617074 G A rs151102391 SPZ1 Nonsynonymous SNV G347E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.141 147056 chr17 4793026 4793026 - AGGAGGAGCGGCGGC rs952311513 MINK1 Q444_A445insEERRQ 0.001 0 0 0 1 0 0 0 0 0 0 0 147057 chr5 79809468 79809468 G A rs139629089 FAM151B Nonsynonymous SNV G66E 0.007 0 0 3 8 0 0.008 0 0 0 0 0 3.704 147058 chr19 17309097 17309097 G A rs768488779 MYO9B Synonymous SNV P1406P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 147059 chr4 169182043 169182043 A G rs142627596 DDX60 Nonsynonymous SNV M1124T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 147060 chr6 159029714 159029714 C T rs773354431 TMEM181 Synonymous SNV F413F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.62 147061 chr17 6673961 6673961 G A rs763955529 XAF1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 147062 chr17 6733671 6733671 G A rs754502444 TEKT1 Nonsynonymous SNV P9S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 9.087 147063 chr19 1806690 1806690 T C ATP8B3 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 147064 chr17 7192861 7192861 G A rs376682965 YBX2 Synonymous SNV P344P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.6 147065 chr4 17585171 17585171 C G LAP3 Nonsynonymous SNV Q149E 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.01 147066 chr6 160645763 160645763 G T rs139737555 SLC22A2 Synonymous SNV T525T 0.005 0.005 0.003 6 6 2 0.015 1 0 0 0 0 Benign 10.25 147067 chr17 7320472 7320472 G A rs756129752 NLGN2 Nonsynonymous SNV R621H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 147068 chr5 176813433 176813433 C T rs148976897 SLC34A1 Nonsynonymous SNV A133V 0.003 0.008 0 5 4 3 0.013 0 0 0 0 0 Likely benign 33 147069 chr17 7415147 7415147 C T rs764110481 POLR2A Synonymous SNV A1373A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 147070 chr5 99871518 99871518 A G rs139597477 FAM174A Nonsynonymous SNV D95G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.802 147071 chr19 18979423 18979423 C T rs369804280 GDF1 Nonsynonymous SNV E368K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 147072 chr19 19115069 19115069 G A rs762143527 SUGP2 Nonsynonymous SNV T946I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.26 147073 chr4 1843257 1843257 G A rs148115434 LETM1 Synonymous SNV G137G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 5.098 147074 chr5 178634681 178634681 C T rs372103269 ADAMTS2 Nonsynonymous SNV A242T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 5.083 147075 chr5 178634704 178634704 T C rs59567206 ADAMTS2 Nonsynonymous SNV D234G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.002 147076 chr5 179393924 179393924 G A rs150981496 RNF130 Synonymous SNV G344G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.478 147077 chr17 9850269 9850269 G A rs763337191 GAS7 Nonsynonymous SNV T46M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 147078 chr6 117592007 117592007 C T rs760897041 VGLL2 Synonymous SNV Y231Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.58 147079 chr5 32239248 32239248 A G rs61757721 MTMR12 Synonymous SNV I401I 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 10.07 147080 chr19 30935399 30935399 G A ZNF536 Synonymous SNV S310S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.238 147081 chr6 39864639 39864639 T C DAAM2 Nonsynonymous SNV M798T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 147082 chr4 128905546 128905546 G C rs761613127 ABHD18 Nonsynonymous SNV V49L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 147083 chr4 2934331 2934331 C T rs769424992 MFSD10 Nonsynonymous SNV G176D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 147084 chr4 2946934 2946934 C T rs756419330 NOP14 Nonsynonymous SNV G553E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 147085 chr19 3544874 3544874 G A rs7252773 MFSD12 Synonymous SNV G442G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.838 147086 chr6 130387608 130387608 C T rs758934585 L3MBTL3 Synonymous SNV T300T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 17.57 147087 chr17 19463591 19463591 G A rs35790011 SLC47A1 Nonsynonymous SNV V338I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.881 147088 chr17 19835191 19835191 G A rs11870360 AKAP10 Nonsynonymous SNV S523L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.55 147089 chr6 3284097 3284097 C T rs142838841 SLC22A23 Synonymous SNV P283P 0.005 0 0.003 0 6 0 0 1 0 0 0 0 16.84 147090 chr8 16885120 16885120 C T rs865800668 MICU3 Nonsynonymous SNV P111L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.78 147091 chr4 39255572 39255572 G A rs777066512 WDR19 Nonsynonymous SNV V815I 0 0 0 1 0 0 0.003 0 0 0 0 0 23 147092 chr6 144844274 144844274 G C rs768278380 UTRN Nonsynonymous SNV Q1952H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 147093 chr4 156283264 156283264 T A rs144604909 MAP9 Synonymous SNV S246S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.939 147094 chr4 156289803 156289803 G T rs61753569 MAP9 Nonsynonymous SNV P215T 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 3.077 147095 chr19 36912160 36912160 T G LOC644189 0 0 0.003 0 0 0 0 1 0 0 0 0 3.361 147096 chr19 36912247 36912247 C G rs762137149 LOC644189 0 0 0.003 0 0 0 0 1 0 0 0 0 8.974 147097 chr4 159533317 159533317 C T rs779333247 RXFP1 Nonsynonymous SNV P158L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.9 147098 chr6 150710490 150710490 G A rs144193430 IYD Star tloss A61T 0.008 0.008 0 0 9 3 0 0 0 0 0 0 Benign 17.07 147099 chr6 49754118 49754118 C T rs760635624 PGK2 Synonymous SNV E261E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.668 147100 chr17 27438834 27438834 T C rs912506227 MYO18A Synonymous SNV L882L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.025 147101 chr4 165961988 165961988 T G rs139386987 TRIM60 Nonsynonymous SNV M255R 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 11.31 147102 chr4 5586534 5586535 GC - rs760766280 EVC2 A878Tfs*45 0.003 0 0 1 3 0 0.003 0 0 0 0 0 147103 chr8 22442390 22442390 C T rs752802805 PDLIM2 Nonsynonymous SNV A101V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 147104 chr5 64883139 64883139 A G rs145769947 PPWD1 Synonymous SNV V463V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.458 147105 chr5 65350051 65350051 C T rs746436552 ERBIN Nonsynonymous SNV P969S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.19 147106 chr6 152469204 152469204 G A rs141716975 SYNE1 Nonsynonymous SNV L473F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 147107 chr4 57307916 57307916 C T rs775711628 PAICS Nonsynonymous SNV S35F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.9 147108 chr19 38376915 38376915 T G WDR87 Synonymous SNV R2466R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.196 147109 chr19 38591803 38591803 C T rs201178535 SIPA1L3 Nonsynonymous SNV L656F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.6 147110 chr19 38810739 38810739 G A rs557940021 KCNK6 Nonsynonymous SNV R50H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.1 147111 chr19 39230716 39230716 T A rs577423988 CAPN12 Nonsynonymous SNV E235V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27 147112 chr19 39230735 39230735 G A rs148454997 CAPN12 Nonsynonymous SNV R229C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 147113 chr8 27293308 27293308 G T rs41276291 PTK2B Nonsynonymous SNV G414V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.29 147114 chr17 36717896 36717896 G A rs199805242 SRCIN1 Synonymous SNV R501R 0.004 0 0.007 0 5 0 0 2 0 0 0 0 10.67 147115 chr18 29598847 29598847 C T rs34097443 RNF125 Synonymous SNV T7T 0.013 0.008 0.007 4 15 3 0.01 2 0 0 0 0 20.2 147116 chr4 6612964 6612964 C T rs75870837 MAN2B2 Nonsynonymous SNV A790V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 26.1 147117 chr18 30350260 30350260 - CGGCTGCTGCTGCTGTGA rs747624976 KLHL14 P98_P99insSQQQQP 0.002 0 0 2 2 0 0.005 0 0 0 0 0 147118 chr4 186334926 186334926 C A rs779371750 UFSP2 Nonsynonymous SNV R262I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 147119 chr8 30890157 30890157 G C rs756699400 PURG Nonsynonymous SNV P48A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 147120 chr4 186423617 186423617 C T rs200273032 PDLIM3 Nonsynonymous SNV R142Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 147121 chr4 71201297 71201297 C T rs761637105 CABS1 Nonsynonymous SNV R181C 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 13.58 147122 chr8 38092072 38092072 C T DDHD2 Synonymous SNV P127P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.98 147123 chr18 44057516 44057516 G A rs189873733 LOXHD1 Synonymous SNV A486A 0.004 0 0.003 6 5 0 0.015 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.86 147124 chr8 38947588 38947588 C T rs138938731 ADAM9 Synonymous SNV D697D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.86 147125 chr5 78423621 78423621 C T rs60340837 BHMT Synonymous SNV Y284Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.914 147126 chr4 187207578 187207578 G A rs763695404 F11 Nonsynonymous SNV R497Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 147127 chr6 84311131 84311131 G A SNAP91 Nonsynonymous SNV P276S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 147128 chr18 47421409 47421409 C G rs371584389 MYO5B Nonsynonymous SNV E983Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.23 147129 chr6 85446702 85446702 C T rs767328277 TBX18 Nonsynonymous SNV A509T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 147130 chr8 42977699 42977699 C T rs142479040 POMK Synonymous SNV C244C 0.004 0.01 0 0 5 4 0 0 0 0 0 0 Likely benign 11.51 147131 chr6 170153986 170153987 AT - rs747627800 ERMARD C12Sfs*7 0.001 0 0.003 0 1 0 0 1 0 0 0 0 147132 chr6 53785552 53785552 A G rs374759146 LRRC1 Nonsynonymous SNV N470S 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 12.75 147133 chr18 52571633 52571633 C T rs769350087 CCDC68 Nonsynonymous SNV E322K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 147134 chr8 59851912 59851912 G T TOX Synonymous SNV V120V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.492 147135 chr4 77303780 77303780 A T rs769421313 CCDC158 Nonsynonymous SNV S299R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 147136 chr19 44536337 44536337 G A ZNF222 Synonymous SNV V210V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.958 147137 chr19 44590851 44590851 G T rs192483922 ZNF284 Nonsynonymous SNV R407I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.863 147138 chr4 3129240 3129240 G A rs118005095 HTT Nonsynonymous SNV G551E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 147139 chr6 26107798 26107798 C T H1-6 Nonsynonymous SNV G175D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 147140 chr6 26184083 26184083 C T rs141005448 H2BC6 Synonymous SNV T20T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.22 147141 chr18 60570226 60570226 A G PHLPP1 Nonsynonymous SNV D825G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.33 147142 chr6 27115084 27115084 G C rs147640519 H2AC12 Synonymous SNV L59L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.678 147143 chr8 81412271 81412271 G A rs376941161 ZBTB10 Synonymous SNV R505R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 6.781 147144 chr8 82392712 82392712 G A rs149072307 FABP4 Synonymous SNV F65F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.66 147145 chr4 39098345 39098345 C T KLHL5 Nonsynonymous SNV R368W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 147146 chr4 86916303 86916303 G A rs115120658 ARHGAP24 Nonsynonymous SNV R306Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 147147 chr4 88231428 88231428 G T rs76926692 HSD17B13 Nonsynonymous SNV P224Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 26.6 147148 chr19 46268834 46268834 G A rs747106145 SIX5 Synonymous SNV D715D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.246 147149 chr17 41888549 41888549 T C rs138030782 MPP3 Nonsynonymous SNV H452R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 147150 chr19 46387941 46387941 G A rs200198801 IRF2BP1 Synonymous SNV G364G 0.004 0.008 0.014 2 5 3 0.005 4 0 0 0 0 0.062 147151 chr4 88929173 88929173 - GAG rs796065320 PKD2 E102_V103insE 0 0 0 1 0 0 0.003 0 0 0 0 0 147152 chr4 94006351 94006351 C G GRID2 Synonymous SNV V150V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.28 147153 chr8 99139936 99139936 G C rs150709391 POP1 Nonsynonymous SNV G86R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.5 147154 chr8 99142444 99142444 G A rs373854633 POP1 Nonsynonymous SNV C242Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25.3 147155 chr4 95173975 95173975 C T rs367710018 SMARCAD1 Synonymous SNV V366V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.4 147156 chr17 43246756 43246756 G T rs139634584 HEXIM2 Synonymous SNV L169L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.58 147157 chr6 112397201 112397201 G A rs141127175 TUBE1 Nonsynonymous SNV H251Y 0.004 0.003 0.01 5 5 1 0.013 3 0 0 0 0 9.758 147158 chr6 345904 345904 G A rs140808686 DUSP22 Nonsynonymous SNV R80H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.05 147159 chr6 34512089 34512089 G A rs56262607 SPDEF Synonymous SNV P48P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 3.088 147160 chr19 49000952 49000952 C T rs867579354 LMTK3 Nonsynonymous SNV G1154D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 147161 chr9 103054650 103054650 A C INVS Nonsynonymous SNV H378P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 147162 chr6 35425714 35425714 - C rs749898067 FANCE Frameshift insertion V311Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 147163 chr6 35911729 35911729 C T rs772686449 SLC26A8 Nonsynonymous SNV R849H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 147164 chr6 35960405 35960405 G A rs746630906 SLC26A8 Nonsynonymous SNV P225L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 147165 chr5 111595670 111595670 T C rs371252858 EPB41L4A Nonsynonymous SNV N217D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.24 147166 chr6 36343699 36343699 C T rs9394345 ETV7 Nonsynonymous SNV A5T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 147167 chr17 48278868 48278868 T A COL1A1 Nonsynonymous SNV S3C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 147168 chr5 112175824 112175824 C T rs150089434 APC Synonymous SNV L1493L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 8.003 147169 chr5 112406836 112406836 T A rs765881326 MCC Nonsynonymous SNV K437I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 147170 chr17 49118864 49118864 T G rs147184009 SPAG9 Nonsynonymous SNV K104Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.6 147171 chr9 111929533 111929533 G T FRRS1L Synonymous SNV G13G 0.002 0.003 0 0 2 1 0 0 1 0 0 0 10.78 147172 chr19 50193447 50193447 A G rs762608036 ADM5 Nonsynonymous SNV I53M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.487 147173 chr7 100959744 100959744 G A rs140464086 IFT22 Nonsynonymous SNV R19W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 147174 chr6 40399583 40399583 G A rs768433587 LRFN2 Nonsynonymous SNV R424W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 147175 chr17 55752441 55752441 G C MSI2 Nonsynonymous SNV S296T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 147176 chr19 50951492 50951492 G A rs372679762 MYBPC2 Synonymous SNV L439L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 147177 chr9 117120410 117120410 C G rs374900536 AKNA Nonsynonymous SNV G725R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 16.2 147178 chr19 51857874 51857874 - CCACAG rs61361626 ETFB W6_V7insLW 0.004 0 0.01 0 5 0 0 3 0 0 0 0 147179 chr6 42852397 42852397 C T rs199719364 RPL7L1 Nonsynonymous SNV R120C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 147180 chr4 76415820 76415820 G C RCHY1 Nonsynonymous SNV P161A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 147181 chr17 60033066 60033066 C T rs200223529 MED13 Synonymous SNV P1919P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 147182 chr4 77227999 77227999 G T rs372051485 STBD1 Nonsynonymous SNV G26V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.247 147183 chr4 77228000 77228000 C A rs758623598 STBD1 Synonymous SNV G26G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.37 147184 chr6 149720246 149720246 A G TAB2 Nonsynonymous SNV H622R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 147185 chr17 62045701 62045701 C T rs746216167 SCN4A Nonsynonymous SNV V240M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 147186 chr5 137420269 137420269 G T rs199721486 WNT8A Nonsynonymous SNV R80L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 147187 chr9 125148994 125148994 C T rs758379805 PTGS1 Nonsynonymous SNV R379C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 147188 chr6 46977491 46977491 C T rs369408573 ADGRF1 Synonymous SNV T560T 0.003 0 0 0 4 0 0 0 0 0 0 0 11.35 147189 chr9 126125186 126125186 C T rs73571404 CRB2 Nonsynonymous SNV P46L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 22.8 147190 chr17 71433925 71433925 A G rs1052278168 SDK2 Nonsynonymous SNV I318T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 147191 chr19 54185492 54185492 G A rs75598818 MIR520F 0 0 0.014 0 0 0 0 4 0 0 0 0 3.931 147192 chr17 72218626 72218626 G A rs145281785 TTYH2 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 147193 chr5 140230589 140230589 - T rs782577520 PCDHA9 Frameshift insertion L840Sfs*15 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 147194 chr5 140262811 140262811 G T rs572696678 PCDHA13 Nonsynonymous SNV V320L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.4 147195 chr6 158495710 158495710 C G rs75150283 SYNJ2 Synonymous SNV R507R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.84 147196 chr5 140263178 140263178 C T PCDHA13 Nonsynonymous SNV S442L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.93 147197 chr17 72365764 72365764 C T rs201419909 GPR142 Stop gain R29X 0.001 0 0 0 1 0 0 0 0 0 0 0 8.299 147198 chr17 72522158 72522158 C A rs114130167 CD300LB Synonymous SNV T33T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.5 147199 chr17 72916207 72916207 G A USH1G Nonsynonymous SNV R139C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 147200 chr4 94750381 94750381 C A rs376429461 ATOH1 Synonymous SNV R102R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.11 147201 chr6 70981371 70981371 C T rs142328549 COL9A1 Nonsynonymous SNV R134H 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 26.2 147202 chr6 159672561 159672561 A C FNDC1 Nonsynonymous SNV T1688P 0 0.003 0 0 0 1 0 0 0 0 0 0 26 147203 chr6 160183996 160183996 G A ACAT2 Nonsynonymous SNV G63D 0 0.003 0 0 0 1 0 0 0 0 0 0 28 147204 chr5 141358390 141358390 G A rs141717987 RNF14 Nonsynonymous SNV G151S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.54 147205 chr17 73751882 73751882 C T rs528247999 ITGB4 Synonymous SNV C1536C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.29 147206 chr5 14359526 14359526 G A rs753462846 TRIO Synonymous SNV T759T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.64 147207 chr6 16145533 16145533 C T rs148878853 MYLIP Synonymous SNV C411C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.11 147208 chr19 56011279 56011279 C T rs35651406 SSC5D Nonsynonymous SNV A601V 0 0 0.007 0 0 0 0 2 0 0 0 0 5.69 147209 chr7 128542913 128542913 C T rs777385825 KCP 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 147210 chr6 16327894 16327894 - TGA rs766029394 ATXN1 Q215_Q216insH 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 147211 chr6 16327897 16327897 - TGA ATXN1 Q214_Q215insH 0 0.003 0 0 0 1 0 0 0 0 0 0 147212 chr19 56320706 56320706 C T rs779883442 NLRP11 Nonsynonymous SNV E325K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 1.414 147213 chr19 56369349 56369349 C T rs761163466 NLRP4 Nonsynonymous SNV P197L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 147214 chr19 56403468 56403468 T G rs529676701 NLRP13 Synonymous SNV T1035T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.544 147215 chr17 74465764 74465764 C T rs151180491 AANAT Synonymous SNV H112H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.381 147216 chr7 133824254 133824254 A C rs61749956 LRGUK Synonymous SNV S157S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.529 147217 chr9 136328657 136328657 T G rs3124765 CACFD1 Nonsynonymous SNV I58M 0 0.008 0 1 0 3 0.003 0 0 0 0 0 14.62 147218 chr19 56888377 56888377 C G rs183939266 ZNF542P 0 0 0.01 0 0 0 0 3 0 0 0 0 3.027 147219 chr7 149485540 149485540 G A rs372778854 SSPO 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 13.19 147220 chr7 149559009 149559009 T A ZNF862 Nonsynonymous SNV D920E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.78 147221 chr6 90387329 90387329 C T rs35509794 MDN1 Nonsynonymous SNV A4167T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.4 147222 chr6 20212420 20212422 CCG - rs572147520 MBOAT1 T15_G16delinsS 0 0.003 0 0 0 1 0 0 0 0 0 0 147223 chr6 20480107 20480107 G A E2F3 Nonsynonymous SNV G17S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 147224 chr17 76497832 76497832 C T rs369607138 DNAH17 Nonsynonymous SNV V1772M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.068 147225 chr19 9061835 9061835 G C rs372472682 MUC16 Synonymous SNV T8537T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.445 147226 chr7 150655572 150655572 C T rs199472866 KCNH2 Nonsynonymous SNV R164H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.2 147227 chr6 26017370 26017393 AGCCTTGGCCGCCTTGGGTTTTAC - H1-1 V190_A197del 0 0.003 0 0 0 1 0 0 0 0 0 0 147228 chr7 150773881 150773881 G A rs776789671 FASTK Synonymous SNV P386P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.304 147229 chr7 100190638 100190638 C A rs752743327 FBXO24 Nonsynonymous SNV T252K 0.004 0 0 0 5 0 0 0 0 0 0 0 25.9 147230 chr9 139726282 139726282 G A rs199805458 RABL6 Nonsynonymous SNV D190N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 147231 chr7 142651453 142651453 G A rs61728832 KEL Nonsynonymous SNV R248W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 29.6 147232 chr7 142962280 142962280 C T rs780405817 GSTK1 Nonsynonymous SNV P160L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.4 147233 chr19 5914582 5914582 G A rs139468180 CAPS Nonsynonymous SNV R31H 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 147234 chr19 9492013 9492013 G A rs141985992 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV G336R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 147235 chr5 138714333 138714333 G A rs369205849 SLC23A1 Synonymous SNV L372L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.617 147236 chr5 16067814 16067814 G A rs757558027 MARCHF11 Synonymous SNV D325D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.424 147237 chr7 19738234 19738234 T G TWISTNB Nonsynonymous SNV D241A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.491 147238 chr7 150069697 150069697 A G REPIN1 Nonsynonymous SNV D456G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 147239 chr19 8171067 8171067 C T rs151274163 FBN3 Nonsynonymous SNV V1580I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.257 147240 chr6 35943182 35943182 A G rs936874704 SLC26A8 Synonymous SNV I314I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.594 147241 chr6 36099136 36099136 T C rs761251686 MAPK13 Nonsynonymous SNV Y70H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 147242 chr7 150746217 150746217 A G rs759506067 ASIC3 Nonsynonymous SNV H82R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.253 147243 chr9 19346594 19346594 T G rs34267952 DENND4C Nonsynonymous SNV V1227G 0.001 0.005 0.014 1 1 2 0.003 4 0 0 0 0 16.35 147244 chr7 2625907 2625916 TGTCCCGGAG - rs773701437 IQCE V236Sfs*8 0.004 0.008 0 0 5 3 0 0 0 0 0 0 147245 chr7 2692620 2692620 C A rs377372701 TTYH3 Synonymous SNV V332V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 10.81 147246 chr6 38840444 38840444 A C rs141532428 DNAH8 Nonsynonymous SNV N2158H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.4 147247 chr5 141017975 141017975 C T rs146541687 RELL2 Synonymous SNV P61P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 13.99 147248 chr7 16642100 16642100 T C ANKMY2 Nonsynonymous SNV H349R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 147249 chr7 31690762 31690762 G A rs759070088 ITPRID1 Nonsynonymous SNV V864I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 147250 chr7 100855618 100855618 G A rs780555355 PLOD3 Nonsynonymous SNV P348L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 147251 chr7 100959743 100959743 C T rs190539623 IFT22 Nonsynonymous SNV R19Q 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.2 147252 chr7 20691122 20691122 C T rs757726359 ABCB5 Nonsynonymous SNV P26L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 147253 chr7 40027452 40027452 C T rs138588558 CDK13 Nonsynonymous SNV A489V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 147254 chr7 42004862 42004862 C T rs778732599 GLI3 Nonsynonymous SNV G1270D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 147255 chr5 148745631 148745631 C T rs771854910 PCYOX1L Synonymous SNV G182G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 147256 chr9 6645310 6645310 C A rs141601131 GLDC Nonsynonymous SNV A64S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 147257 chr5 149755422 149755422 - CGGACAGTG TCOF1 S543_E544insADS 0.001 0 0 0 1 0 0 0 0 0 0 0 147258 chr5 149772954 149772954 T A rs139081024 TCOF1 Nonsynonymous SNV M1130K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.8 147259 chr5 150410210 150410210 C T rs2233312 TNIP1 Nonsynonymous SNV R581K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.1 147260 chr5 150715103 150715103 C T rs36053782 SLC36A2 Synonymous SNV V177V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 10.36 147261 chr5 150718675 150718675 G A rs776428086 SLC36A2 Synonymous SNV T157T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 147262 chr7 114655818 114655818 G A rs147852232 MDFIC Synonymous SNV A190A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 11.81 147263 chr5 150726869 150726869 G A rs35215996 SLC36A2 Synonymous SNV T51T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 11.23 147264 chr5 150858977 150858977 T G rs9687945 SLC36A1 Nonsynonymous SNV F362L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 7.058 147265 chr7 122303521 122303521 G A CADPS2 Nonsynonymous SNV R186W 0.003 0 0 0 4 0 0 0 0 0 0 0 33 147266 chr5 39311382 39311382 A G C9 Nonsynonymous SNV I323T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.9 147267 chr18 28934631 28934631 G A rs145955044 DSG1 Synonymous SNV K824K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 1.281 147268 chr6 53519295 53519295 C T rs775999402 KLHL31 Nonsynonymous SNV R259H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 147269 chr7 123672384 123672384 C T rs1008318038 TMEM229A Nonsynonymous SNV R225H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 147270 chr18 29437779 29437779 C T TRAPPC8 Nonsynonymous SNV S971N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 147271 chr1 110171049 110171049 G A AMPD2 Nonsynonymous SNV V426I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 147272 chr5 154185506 154185506 A G rs764973501 LARP1 Nonsynonymous SNV K599R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 147273 chr7 32620434 32620434 G A rs768298361 AVL9 Nonsynonymous SNV R588H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 28.4 147274 chr1 1118417 1118417 G A rs369266010 TTLL10 Nonsynonymous SNV V287M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 147275 chr5 52097609 52097609 A G rs776009993 PELO Nonsynonymous SNV I365V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.44 147276 chr7 127013806 127013806 A G ZNF800 Synonymous SNV T528T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.312 147277 chr1 11253754 11253754 C T rs776858069 ANGPTL7 Nonsynonymous SNV R199C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 147278 chr1 117487607 117487607 A G rs142424201 PTGFRN Nonsynonymous SNV Q242R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 26.3 147279 chr5 624587 624587 C T rs62001006 CEP72 Synonymous SNV D135D 0.005 0.013 0.017 1 6 5 0.003 5 0 0 0 0 Benign 5.497 147280 chr1 11832246 11832246 C T C1orf167 Nonsynonymous SNV H640Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.128 147281 chr7 45005323 45005323 G A rs751052723 MYO1G Nonsynonymous SNV P765L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 147282 chr1 12198460 12198460 C T rs750354476 TNFRSF8 Nonsynonymous SNV R392W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 147283 chr1 12336393 12336393 G T rs766542694 VPS13D Nonsynonymous SNV K916N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 147284 chr1 1269838 1269838 T A rs769442638 TAS1R3 Nonsynonymous SNV H851Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 147285 chr1 1271871 1271871 C T rs374246352 DVL1 Nonsynonymous SNV R580Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.57 147286 chr7 4825182 4825182 C T rs201196622 AP5Z1 Synonymous SNV D177D 0.003 0.003 0 1 4 1 0.003 0 1 0 0 0 Conflicting interpretations of pathogenicity 13.53 147287 chr6 88173747 88173747 C T rs73752022 CFAP206 Nonsynonymous SNV R550C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 33 147288 chr1 145537766 145537766 C T rs587775880 ITGA10 Synonymous SNV A725A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 147289 chr1 145560158 145560158 T C ANKRD35 Nonsynonymous SNV V125A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 147290 chrX 134994992 134994992 A G SAGE1 Nonsynonymous SNV K884R 0 0.003 0 2 0 1 0.005 0 0 0 0 1 16.38 147291 chr18 66504571 66504571 A G rs200040180 CCDC102B Nonsynonymous SNV R191G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.487 147292 chr18 66506047 66506047 G A rs147553785 CCDC102B Synonymous SNV T237T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.576 147293 chr7 1484767 1484767 G T MICALL2 Synonymous SNV S313S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.682 147294 chr18 72913453 72913453 C T rs147233998 ZADH2 Nonsynonymous SNV R228H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 147295 chrX 140994346 140994346 C T rs60520741 MAGEC1 Synonymous SNV L386L 0.003 0.005 0 1 3 2 0.003 0 1 0 0 0 7.972 147296 chr6 99817671 99817671 T C rs148273048 COQ3 Synonymous SNV V305V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.154 147297 chr6 99848970 99848970 G A rs144702902 PNISR Nonsynonymous SNV R604C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 147298 chrX 149831913 149831913 C T MTM1 Nonsynonymous SNV T492I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 147299 chr1 151991190 151991190 T C rs567552948 NBPF18P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.848 147300 chr7 149485960 149485960 G A SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 11.86 147301 chr7 64152262 64152262 A G rs28886395 ZNF107 Synonymous SNV P50P 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 Likely benign 21.3 147302 chr7 64167627 64167627 T G rs771162000 ZNF107 Synonymous SNV L352L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.12 147303 chr5 32074573 32074573 G A rs149535005 PDZD2 Nonsynonymous SNV V1121M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 147304 chr7 6505731 6505731 C T KDELR2 Nonsynonymous SNV C192Y 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 22.9 147305 chrX 152710253 152710253 G A rs782331698 TREX2 Synonymous SNV A212A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.423 147306 chr7 65447009 65447009 G A rs74975849 GUSB Synonymous SNV N54N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 6.797 147307 chr7 6731868 6731868 G A rs758146016 ZNF12 Synonymous SNV H235H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.357 147308 chrX 153225398 153225398 G A HCFC1 Synonymous SNV A433A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 147309 chr5 36629568 36629568 T C SLC1A3 Synonymous SNV F66F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.421 147310 chr19 885994 885994 C T rs775094558 MED16 Nonsynonymous SNV A219T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 147311 chrX 154293920 154293920 A G rs782437177 MTCP1 Synonymous SNV L84L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.84 147312 chrX 17745996 17745996 C T NHS Nonsynonymous SNV P1059L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.851 147313 chr5 42424696 42424696 C G rs1023566603 GHR Nonsynonymous SNV N2K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.867 147314 chrX 24228920 24228920 G C ZFX Synonymous SNV S386S 0 0.005 0 0 0 2 0 0 0 0 0 0 1.579 147315 chrX 24742468 24742468 C T rs368074893 POLA1 Nonsynonymous SNV T406M 0 0.005 0 0 0 2 0 0 0 0 0 0 33 147316 chr5 43547961 43547961 C T rs754923991 PAIP1 Nonsynonymous SNV D164N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 147317 chr5 45695973 45695978 CGCCGC - rs747975797 HCN1 G73_G74del 0.004 0 0.003 0 5 0 0 1 0 0 0 0 147318 chr1 156737681 156737681 G A rs755270609 PRCC Nonsynonymous SNV A40T 0 0 0.007 0 0 0 0 2 0 0 0 0 18.39 147319 chr8 105478972 105478972 G C rs568135080 DPYS Synonymous SNV V59V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.586 147320 chr7 22985376 22985376 C T rs752544627 FAM126A Synonymous SNV P466P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 147321 chr19 1818781 1818781 G A rs138422554 REXO1 Synonymous SNV N942N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 147322 chr7 100607812 100607812 C T rs370048425 MUC3A Synonymous SNV S1263S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 147323 chr7 89969767 89969767 G A rs886935356 LOC101927446 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.371 147324 chr5 6372663 6372663 T C rs749845985 MED10 Nonsynonymous SNV M121V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 147325 chr1 158985706 158985706 G A rs140368446 IFI16 Nonsynonymous SNV A104T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 0.002 147326 chr19 2425259 2425261 GAA - TMPRSS9 E959del 0.001 0.01 0 0 1 4 0 0 0 0 0 0 147327 chrX 49088375 49088375 G T rs201861911 CACNA1F Nonsynonymous SNV P14T 0 0.008 0 0 0 3 0 0 0 1 0 0 Uncertain significance 12.74 147328 chr5 65307924 65307924 A G rs61758158 ERBIN Nonsynonymous SNV I119V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.207 147329 chr19 41770678 41770678 C T rs755166581 HNRNPUL1 Synonymous SNV G90G 0 0 0 2 0 0 0.005 0 0 0 0 0 18.06 147330 chrX 53225129 53225129 C T rs967652938 KDM5C Nonsynonymous SNV R963Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 147331 chrX 55514925 55514927 ATC - rs777877268 USP51 G149_S150delinsA 0 0.003 0 0 0 1 0 0 0 0 0 0 147332 chr19 3546264 3546264 C T rs34878396 MFSD12 Nonsynonymous SNV G386S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 147333 chrX 70889564 70889564 C T rs150711630 LOC101059915 Synonymous SNV S464S 0.007 0.005 0 0 8 2 0 0 3 0 0 0 2.131 147334 chr7 94993334 94993334 G T rs17883013 PON3 Nonsynonymous SNV A179D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 27.9 147335 chr7 95439811 95439811 G A rs78122113 DYNC1I1 Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 147336 chr19 42861036 42861036 G A rs759275421 MEGF8 Nonsynonymous SNV R1511H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 147337 chr19 44278391 44278391 C T rs202081773 KCNN4 Synonymous SNV T212T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 19.37 147338 chr7 99084161 99084161 G C ZNF789 Nonsynonymous SNV E93Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 147339 chr19 4219671 4219671 G A rs201379375 ANKRD24 Synonymous SNV G1029G 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 8.719 147340 chrX 99662236 99662236 A G PCDH19 Nonsynonymous SNV S454P 0 0.003 0 2 0 1 0.005 0 0 0 0 1 23.1 147341 chr1 1691266 1691266 G A rs758412133 NADK Synonymous SNV T113T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.104 147342 chr19 44585252 44585252 C T ZNF284 Stop gain R34X 0 0 0 2 0 0 0.005 0 0 0 0 0 34 147343 chr6 128718737 128718737 T C rs141428509 PTPRK Nonsynonymous SNV H66R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.66 147344 chr1 1139320 1139320 C T rs200096730 TNFRSF18 Nonsynonymous SNV R140H 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 18.88 147345 chr6 130762619 130762619 T C rs41285314 TMEM200A Nonsynonymous SNV I351T 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 0.023 147346 chr1 1190778 1190778 C T rs750816976 UBE2J2 Synonymous SNV T143T 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 10.44 147347 chr1 1238589 1238589 C A ACAP3 Nonsynonymous SNV G60C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 33 147348 chr19 44932485 44932485 T C rs755311246 ZNF229 Nonsynonymous SNV Y818C 0 0 0 2 0 0 0.005 0 0 0 0 0 8.403 147349 chr1 172376952 172376952 C T DNM3 Nonsynonymous SNV R851C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 147350 chr6 134638530 134638530 C T rs199997341 SGK1 Synonymous SNV R23R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.8 147351 chr6 135254142 135254142 C T rs74663775 ALDH8A1 Synonymous SNV V157V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.5 147352 chr6 137041600 137041600 C T MAP3K5 Synonymous SNV L192L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.44 147353 chr6 142397177 142397177 G A rs762420799 NMBR Nonsynonymous SNV R113W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 147354 chr6 142456018 142456018 G C rs1027065639 GJE1 Nonsynonymous SNV E193Q 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.2 147355 chr7 37949282 37949282 C T rs147388554 SFRP4 Synonymous SNV R264R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 13.98 147356 chr19 46997160 46997160 C T rs187904708 PNMA8B Synonymous SNV E521E 0 0.01 0 3 0 4 0.008 0 0 0 0 0 13.02 147357 chr19 47570354 47570354 G A rs200138538 ZC3H4 Synonymous SNV G1057G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.197 147358 chr7 135418995 135418995 G A rs371261217 FAM180A Nonsynonymous SNV R84W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 147359 chr1 179414328 179414328 A G rs143178688 AXDND1 Nonsynonymous SNV N596S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.243 147360 chr5 89948255 89948255 A G rs188772875 ADGRV1 Nonsynonymous SNV Y1170C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20 147361 chr5 89981640 89981640 G A rs190981860 ADGRV1 Synonymous SNV A2106A 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 Benign/Likely benign 3.533 147362 chr1 180062292 180062292 A G CEP350 Nonsynonymous SNV H2351R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 147363 chr1 180772708 180772708 T C rs12078050 XPR1 Synonymous SNV S136S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.146 147364 chr1 180804033 180804033 C T rs61742073 XPR1 Synonymous SNV F386F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.33 147365 chr6 151670656 151670656 T C rs142810400 AKAP12 Nonsynonymous SNV V272A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.136 147366 chr1 181144537 181144537 C T rs34246004 LINC01732 0 0 0.044 0 0 0 0 13 0 0 0 0 0.204 147367 chr7 47880144 47880144 C T rs116988549 PKD1L1 Nonsynonymous SNV D1823N 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Likely benign 28 147368 chr1 182640848 182640848 G A rs115960776 RGS8 Synonymous SNV S8S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.703 147369 chr8 126379037 126379037 G A rs751267149 NSMCE2 Synonymous SNV T218T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.32 147370 chr8 127568807 127568807 C T rs567614477 LRATD2 Synonymous SNV A276A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.21 147371 chr19 8203105 8203105 G C rs142847357 FBN3 Nonsynonymous SNV P374R 0.001 0 0.017 0 1 0 0 5 0 0 0 0 Benign/Likely benign 0.002 147372 chr1 19181214 19181214 C T rs146100319 TAS1R2 Synonymous SNV T250T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 147373 chr7 149493830 149493830 G C SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 1.373 147374 chr1 193029068 193029068 A C UCHL5 Nonsynonymous SNV W21G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.907 147375 chr7 73522275 73522275 G A rs116127979 LIMK1 Synonymous SNV T346T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 7.684 147376 chr1 1961524 1961524 A T rs777148022 GABRD Nonsynonymous SNV M388L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.054 147377 chr7 150324976 150324976 T C rs11977216 GIMAP6 Nonsynonymous SNV Q307R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.002 147378 chr7 150325177 150325177 C T rs11974345 GIMAP6 Nonsynonymous SNV G240D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.309 147379 chr7 6226685 6226685 T C rs61753121 CYTH3 Nonsynonymous SNV K82R 0.003 0.005 0.01 1 3 2 0.003 3 0 0 1 0 18.61 147380 chr7 150439554 150439554 G A rs61751040 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV P109P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.423 147381 chr7 150489245 150489245 G A rs139047290 TMEM176B Nonsynonymous SNV R170C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.43 147382 chr6 116600066 116600066 T C TSPYL1 Nonsynonymous SNV K310E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 147383 chr6 116783437 116783437 C G rs4354189 CALHM6 Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 20 147384 chr7 150730899 150730899 C T rs145393109 ABCB8 Synonymous SNV A101A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.76 147385 chr6 16327865 16327867 TGC - rs751421308 ATXN1 Q225del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 147386 chr7 151133381 151133381 C T rs77705643 CRYGN Nonsynonymous SNV E101K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 33 147387 chr7 151133406 151133406 T C rs79151569 CRYGN Synonymous SNV G92G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.031 147388 chr7 151134988 151134988 A C rs11976153 CRYGN Nonsynonymous SNV S122A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.229 147389 chr8 18662355 18662355 G A rs142032665 PSD3 Nonsynonymous SNV T29I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 147390 chr1 201289432 201289432 C T rs551980188 PKP1 Nonsynonymous SNV R424C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 147391 chr8 1949721 1949729 GGAGCCCGG - rs757999930 KBTBD11 G124_P126del 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 147392 chr6 168352080 168352080 G A rs138608115 AFDN Nonsynonymous SNV R1325H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.3 147393 chr7 909147 909147 C T rs561697837 SUN1 Synonymous SNV A611A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.61 147394 chr1 203681129 203681129 T G ATP2B4 Synonymous SNV T691T 0 0 0.007 0 0 0 0 2 0 0 0 0 10.94 147395 chr8 22064476 22064476 C T rs373276348 BMP1 Synonymous SNV P781P 0 0.003 0 0 0 1 0 0 0 0 0 0 17 147396 chr7 1784514 1784514 C T rs577726835 ELFN1 Synonymous SNV N94N 0 0.005 0 4 0 2 0.01 0 0 0 0 0 9.905 147397 chr6 137466899 137466899 A G IL22RA2 Synonymous SNV L130L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.154 147398 chr1 205426024 205426024 C T rs373752623 LEMD1-DT 0 0 0.014 0 0 0 0 4 0 0 0 0 14.81 147399 chr6 139094545 139094545 C A rs915394309 GVQW2 0.001 0 0 0 1 0 0 0 0 0 0 0 9.863 147400 chr19 9639788 9639788 C T rs781077694 ZNF426 Synonymous SNV K273K 0.003 0 0 0 3 0 0 0 0 0 0 0 7.798 147401 chr6 144263591 144263591 G A rs201937527 PLAGL1 Nonsynonymous SNV T121I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 147402 chr8 144999764 144999764 G A rs782018221 PLEC Nonsynonymous SNV R1431C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 15.76 147403 chr7 21778333 21778333 C A DNAH11 Nonsynonymous SNV P2554T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 147404 chr19 54301624 54301624 A - NLRP12 S935Lfs*15 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 147405 chr19 10577826 10577826 C T rs368410997 PDE4A Synonymous SNV A491A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 9.784 147406 chr8 27146692 27146692 T A rs143589116 TRIM35 Nonsynonymous SNV I258F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.275 147407 chr6 150921148 150921148 C T rs551526351 PLEKHG1 Nonsynonymous SNV S6F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.699 147408 chr1 21014075 21014075 C T rs116376356 KIF17 Nonsynonymous SNV G582R 0.001 0.013 0.007 0 1 5 0 2 0 0 0 0 4.686 147409 chr8 10467651 10467651 - CCCTCTTCTT rs773894295 RP1L1 Frameshift insertion V1320Rfs*10 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 147410 chr6 33650411 33650411 C T rs41271255 ITPR3 Synonymous SNV L1529L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 18.56 147411 chr1 214814083 214814083 T C CENPF Nonsynonymous SNV I801T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 147412 chr19 13033597 13033597 C T rs777702304 FARSA Nonsynonymous SNV E498K 0.003 0 0 0 3 0 0 0 0 0 0 0 15.31 147413 chr1 21546459 21546459 C T rs201631426 ECE1 Nonsynonymous SNV E756K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 147414 chr8 35406991 35406991 C T rs77010935 UNC5D Synonymous SNV N90N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.33 147415 chr19 55756598 55756598 A C MIR6803 0 0 0 1 0 0 0.003 0 0 0 0 0 1.116 147416 chr6 35087997 35087997 G A rs372743324 TCP11 Nonsynonymous SNV P211S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 147417 chr19 14044043 14044043 G A rs373561110 PODNL1 Synonymous SNV G247G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.17 147418 chr19 14261958 14261958 G C rs200771495 ADGRL1 Synonymous SNV L1379L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.952 147419 chr19 14517721 14517721 C T ADGRE5 Nonsynonymous SNV T626I 0.003 0 0 0 3 0 0 0 0 0 0 0 29.1 147420 chr8 38287213 38287213 G A rs2915665 FGFR1 Synonymous SNV S115S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 16.08 147421 chr6 36710120 36710120 G A rs778603602 CPNE5 Synonymous SNV P219P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.375 147422 chr8 19805708 19805708 G A rs1801177 LPL Nonsynonymous SNV D36N 0.011 0.021 0.014 1 13 8 0.003 4 0 0 0 0 Benign/Likely benign, other 17 147423 chr1 223900575 223900575 - CACGGTAGGAAGCG rs573919326 CAPN2 Frameshift insertion E80Vfs*42 0.004 0 0.007 0 5 0 0 2 0 0 0 0 147424 chr19 15220617 15220617 G A rs898541581 SYDE1 Nonsynonymous SNV R111H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 147425 chr1 223933124 223933124 G A rs370792781 CAPN2 Synonymous SNV L103L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 147426 chr19 15484023 15484023 C T rs148526102 AKAP8 Nonsynonymous SNV G167E 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 1.712 147427 chr1 225239367 225239367 G A rs532732452 DNAH14 Nonsynonymous SNV R765H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 147428 chr1 225340410 225340410 G A rs17578819 DNAH14 Nonsynonymous SNV G1674E 0.009 0.003 0.017 3 10 1 0.008 5 0 0 0 0 21.8 147429 chr7 4249733 4249733 G A rs201319808 SDK1 Synonymous SNV A313A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.952 147430 chr1 226180592 226180592 G A rs200982731 SDE2 Nonsynonymous SNV A117V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 147431 chr8 124811863 124811863 C T rs199756568 FAM91A1 Nonsynonymous SNV T313I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 147432 chr1 32667690 32667690 A T CCDC28B Stop gain K52X 0.003 0 0 0 3 0 0 0 0 0 0 0 41 147433 chr8 65494021 65494029 GCAGCAGCA - rs772531144 BHLHE22 S232_S234del 0 0.003 0 0 0 1 0 0 0 0 0 0 147434 chr1 227504848 227504848 C T CDC42BPA Synonymous SNV Q12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.643 147435 chr1 228336109 228336109 C T rs139800220 GUK1 Synonymous SNV N192N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.585 147436 chr6 42823638 42823638 G A rs150674519 BICRAL Synonymous SNV Q697Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.643 147437 chr1 228548384 228548384 C T rs759486587 OBSCN Synonymous SNV F6597F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.446 147438 chr1 228612639 228612639 G A rs199657441 HIST3H3 Nonsynonymous SNV R130C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.69 147439 chr6 43156278 43156278 C T rs748072017 CUL9 Nonsynonymous SNV R669W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 147440 chr1 38409311 38409311 C T INPP5B 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 147441 chr1 231906688 231906688 C T rs756296410 DISC1 Synonymous SNV C152C 0 0 0.007 0 0 0 0 2 0 0 0 0 10.83 147442 chr8 8234126 8234126 C T rs199706360 PRAG1 Nonsynonymous SNV R598Q 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 13.74 147443 chr7 48134389 48134389 C T rs747079471 UPP1 Synonymous SNV A3A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.869 147444 chr7 48134403 48134403 C G UPP1 Nonsynonymous SNV Q2E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.009 147445 chr6 46605685 46605685 C T rs779995316 CYP39A1 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 147446 chr7 50136207 50136207 G C SPATA48 Nonsynonymous SNV D176H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.452 147447 chr8 142367504 142367504 C T rs768296986 GPR20 Nonsynonymous SNV V174M 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 23.9 147448 chr8 31497675 31497675 G C rs982442612 NRG1 Nonsynonymous SNV A59P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.8 147449 chr7 5410814 5410814 G C rs114987874 TNRC18 Synonymous SNV P1137P 0.006 0.008 0.014 4 7 3 0.01 4 0 0 0 0 Benign 5.012 147450 chr1 241797731 241797731 G A rs765127182 CHML Synonymous SNV C446C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.687 147451 chr8 37734755 37734755 G A rs61746628 RAB11FIP1 Nonsynonymous SNV T229M 0.004 0.01 0.01 5 5 4 0.013 3 0 0 0 0 24.5 147452 chr1 44078460 44078460 C T rs199963215 PTPRF Nonsynonymous SNV P1037L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 147453 chr1 242042146 242042146 T C EXO1 Nonsynonymous SNV L537P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.476 147454 chr9 104032254 104032254 C T rs117491062 PLPPR1 Synonymous SNV D52D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.98 147455 chr1 44680531 44680531 G A rs552556066 DMAP1 Synonymous SNV A118A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.83 147456 chr19 19764919 19764920 CT - ATP13A1 Q616Rfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 147457 chr6 28200673 28200673 G A rs139661640 ZSCAN9 Nonsynonymous SNV R301Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.2 147458 chr1 244724310 244724310 G A rs201309162 CATSPERE Nonsynonymous SNV G306E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.305 147459 chr8 53570151 53570151 C T rs753074699 RB1CC1 Synonymous SNV S746S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.98 147460 chr7 72891589 72891589 G A rs147123661 BAZ1B Synonymous SNV T734T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.292 147461 chr8 6302026 6302026 T A rs199700538 MCPH1 Nonsynonymous SNV D213E 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Uncertain significance 0.472 147462 chr9 111753029 111753029 G A rs747617059 CTNNAL1 Nonsynonymous SNV H206Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 147463 chr8 144996456 144996456 C T PLEC Synonymous SNV Q2497Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.527 147464 chr19 30502077 30502077 A T URI1 Nonsynonymous SNV N353I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 147465 chr8 67061983 67061983 C T rs141681645 TRIM55 Nonsynonymous SNV T236I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 147466 chr19 33140587 33140587 C T rs745754978 ANKRD27 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 147467 chr7 75659816 75659816 G A rs151087461 STYXL1 Nonsynonymous SNV P9L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 147468 chr6 73904614 73904614 A G rs759993221 KCNQ5 Nonsynonymous SNV H649R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.899 147469 chr8 72964964 72964964 C T rs759652954 TRPA1 Nonsynonymous SNV A561T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 147470 chr9 113449510 113449510 G A rs55786136 MUSK Nonsynonymous SNV G107E 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.32 147471 chr8 145617749 145617749 G A rs200810621 ADCK5 Nonsynonymous SNV A453T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 6.29 147472 chr8 145641589 145641589 C A SLC39A4 Nonsynonymous SNV V2L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.901 147473 chr6 75899061 75899061 G A rs200443479 COL12A1 Nonsynonymous SNV T232M 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.1 147474 chr1 54301284 54301284 A G rs202217135 NDC1 Nonsynonymous SNV W23R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.9 147475 chr19 35450031 35450031 C A rs151214625 ZNF792 Nonsynonymous SNV G243V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 147476 chr8 145692936 145692936 A G rs59038540 KIFC2 Nonsynonymous SNV T180A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 147477 chr8 145726334 145726334 C A rs59798065 PPP1R16A Synonymous SNV T339T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.98 147478 chr8 145727280 145727280 C T rs6988333 PPP1R16A Synonymous SNV L527L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.3 147479 chr8 145731508 145731508 T C GPT Nonsynonymous SNV M317T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.228 147480 chr1 26147059 26147059 A G rs114425492 LOC646471 0 0 0.003 0 0 0 0 1 0 0 0 0 0.52 147481 chr1 26147070 26147070 C G rs116526506 LOC646471 0 0 0.003 0 0 0 0 1 0 0 0 0 3.057 147482 chr1 26212261 26212261 G A rs79085598 STMN1 Nonsynonymous SNV L160F 0.005 0 0.003 0 6 0 0 1 0 0 0 0 11.96 147483 chr1 26509900 26509900 G A rs147478341 CNKSR1 Nonsynonymous SNV V250M 0 0 0.007 0 0 0 0 2 0 0 0 0 29.5 147484 chr1 55563349 55563349 G A rs75297697 USP24 Synonymous SNV S1879S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.97 147485 chr1 57258421 57258421 G A rs779766040 FYB2 Nonsynonymous SNV P22L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 147486 chr6 36698471 36698471 G C rs143649111 RAB44 Nonsynonymous SNV E974Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 147487 chr1 57378142 57378142 C T rs759837668 C8A Synonymous SNV L483L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 147488 chr1 26664916 26664916 G T rs141805601 CRYBG2 Nonsynonymous SNV P1133T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 147489 chr19 36500243 36500243 G A rs918482207 ALKBH6 Synonymous SNV T250T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.1 147490 chr6 87966514 87966514 C T ZNF292 Nonsynonymous SNV T1056I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.86 147491 chr8 17804768 17804768 T C rs199905137 PCM1 Nonsynonymous SNV M286T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 147492 chr6 88769234 88769234 G A rs762285405 SPACA1 Nonsynonymous SNV A180T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 147493 chr8 20110461 20110461 C T rs747506414 LZTS1 Synonymous SNV A327A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.332 147494 chr8 19363260 19363260 A G CSGALNACT1 Nonsynonymous SNV L29P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 147495 chr1 28279799 28279799 C T rs777587021 SMPDL3B Synonymous SNV N149N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.082 147496 chr9 124091276 124091276 A G rs756053203 GSN Nonsynonymous SNV K675E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.4 147497 chr8 21891753 21891753 G C rs374392126 NPM2 Nonsynonymous SNV R166S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23.4 147498 chr6 41196169 41196169 G T rs112680060 TREML4 Nonsynonymous SNV A2S 0.005 0.01 0 7 6 4 0.018 0 0 0 0 0 13.36 147499 chr6 97702458 97702458 T C rs748982325 MMS22L Nonsynonymous SNV D82G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 147500 chr8 100493971 100493971 A T rs142674934 VPS13B Nonsynonymous SNV T1271S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.18 147501 chr8 100791192 100791192 C T rs145208175 VPS13B Nonsynonymous SNV S2596F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 147502 chr9 125377814 125377814 T C rs767688567 OR1Q1 Synonymous SNV Y266Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 147503 chr9 105767901 105767901 G C rs185998342 CYLC2 Nonsynonymous SNV D330H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.071 147504 chr9 106864335 106864335 A G SMC2 Nonsynonymous SNV D244G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.3 147505 chr1 3342307 3342307 C T rs199853370 PRDM16 Synonymous SNV N1034N 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Benign/Likely benign 12.18 147506 chr8 23104413 23104413 G T rs200709918 CHMP7 Nonsynonymous SNV V69L 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 19.2 147507 chr8 23148989 23148989 A G R3HCC1 Nonsynonymous SNV Y323C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 26.8 147508 chr6 43024060 43024060 C T rs138970651 MRPL2 Nonsynonymous SNV R130H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 28.3 147509 chr8 23198688 23198688 C T rs756669124 LOXL2 Nonsynonymous SNV R187Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 27.5 147510 chr9 108287226 108287226 A G RALGAPA1P1 0.005 0.005 0 0 6 2 0 0 0 0 0 0 1.857 147511 chr1 77510162 77510162 C T rs758607422 ST6GALNAC5 Nonsynonymous SNV R179W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 147512 chr8 25156602 25156602 A G rs17053341 DOCK5 Nonsynonymous SNV Q250R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 14.21 147513 chr9 111640422 111640422 T C rs368761085 ELP1 Synonymous SNV V887V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.114 147514 chr19 41096228 41096228 C T rs770928031 SHKBP1 Synonymous SNV L556L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 147515 chr1 36773992 36773993 CA - rs775097277 SH3D21 T104Rfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 147516 chr19 41173458 41173458 G A rs142060332 NUMBL Nonsynonymous SNV A541V 0.004 0 0 0 5 0 0 0 0 0 0 0 27.8 147517 chr9 12775869 12775869 - CGGCGGCGC LURAP1L G54_G55insAGG 0 0.003 0 0 0 1 0 0 0 0 0 0 147518 chr1 79095565 79095565 G A rs147701229 IFI44L Nonsynonymous SNV V230I 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 0.003 147519 chr8 10583440 10583440 C T SOX7 Synonymous SNV G325G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.53 147520 chr1 38032601 38032601 C T rs758821126 GNL2 Nonsynonymous SNV R501Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 147521 chr9 112900482 112900482 G C rs888451902 PALM2AKAP2 Synonymous SNV G744G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.128 147522 chr8 110431448 110431448 T C rs143979071 PKHD1L1 Nonsynonymous SNV V828A 0.009 0.01 0 0 10 4 0 0 0 0 0 0 0.123 147523 chr8 113332142 113332142 C T CSMD3 Nonsynonymous SNV E2212K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 147524 chr20 43374722 43374723 GG - rs751209081 KCNK15 D58Lfs*12 0.003 0 0 1 3 0 0.003 0 0 0 0 0 147525 chr20 43804578 43804578 A G rs140651858 PI3 Synonymous SNV S52S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.486 147526 chr9 116079051 116079051 A G rs762854560 WDR31 Nonsynonymous SNV L236P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 147527 chr8 121530976 121530976 - A MTBP Frameshift insertion H845Tfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 147528 chr8 33454872 33454872 T C rs373159172 DUSP26 Synonymous SNV T54T 0.003 0 0 0 3 0 0 0 0 0 0 0 3.926 147529 chr19 44501395 44501395 G A rs142966554 ZNF155 Synonymous SNV G462G 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 10.62 147530 chr1 43905578 43905578 T C rs771086530 SZT2 Synonymous SNV L2300L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.382 147531 chr9 132671178 132671178 A G rs77988508 FNBP1 Nonsynonymous SNV M400T 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 12.31 147532 chr8 12583310 12583310 T G LONRF1 Nonsynonymous SNV N686H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 147533 chr1 46159157 46159157 C T rs61735666 TMEM69 Synonymous SNV F108F 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 15.92 147534 chr8 12958054 12958054 T G DLC1 Nonsynonymous SNV S87R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 147535 chr20 49493098 49493098 G A rs140059699 BCAS4 Nonsynonymous SNV A144T 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 5.606 147536 chr9 134353968 134353968 C G PRRC2B Nonsynonymous SNV L1574V 0 0.003 0 0 0 1 0 0 0 0 0 0 24 147537 chr1 47904983 47904983 G C FOXD2 Nonsynonymous SNV K392N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 147538 chr20 50769225 50769225 C A rs6096798 ZFP64 Synonymous SNV G448G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 2.94 147539 chr19 45900308 45900308 C A rs772346171 PPP1R13L Synonymous SNV R69R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.81 147540 chr8 139788216 139788233 CCTCGAGTTCCCTTTTCA - rs779626279 COL22A1 T597_G602del 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 147541 chr8 67344765 67344765 C T rs139418895 ADHFE1 Nonsynonymous SNV A5V 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 14.51 147542 chr9 136384124 136384124 G T rs137868995 MYMK Nonsynonymous SNV P91T 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 22.4 147543 chr1 54703801 54703801 C T rs41294794 SSBP3-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.768 147544 chr9 126139134 126139134 G A rs201712752 CRB2 Synonymous SNV P1217P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.538 147545 chr20 60883191 60883191 C T rs45576934 ADRM1 Nonsynonymous SNV A285V 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 Benign 22.9 147546 chr8 77761900 77761900 G A ZFHX4 Synonymous SNV T1266T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 147547 chr1 110033696 110033696 A G rs145297596 ATXN7L2 Nonsynonymous SNV N536S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.03 147548 chr8 8998915 8998915 C T rs375337054 PPP1R3B Nonsynonymous SNV D83N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 147549 chr20 61458172 61458172 G A rs150059093 COL9A3 Synonymous SNV A264A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.635 147550 chr19 48807039 48807039 C T rs73942222 CCDC114 Nonsynonymous SNV G249R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 1.141 147551 chr1 63099238 63099238 G A rs139793443 DOCK7 Synonymous SNV V349V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 9.492 147552 chr9 139747786 139747786 C T rs771179244 MAMDC4 Synonymous SNV F68F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.21 147553 chr9 139874435 139874435 C T rs767807598 PTGDS Synonymous SNV T123T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 147554 chr1 64608204 64608204 G A rs147878288 ROR1 Nonsynonymous SNV A349T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.1 147555 chr8 99101554 99101554 G C rs35339824 ERICH5 Nonsynonymous SNV K103N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.636 147556 chr20 62193693 62193693 C G HELZ2 Synonymous SNV P1546P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.36 147557 chr1 65349091 65349091 G C rs767215058 JAK1 Nonsynonymous SNV T25S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.071 147558 chr8 99264713 99264713 C A rs763533937 NIPAL2 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 147559 chr8 99960501 99960501 G A rs539132239 OSR2 Nonsynonymous SNV R34H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.463 147560 chr20 62327132 62327132 C T RTEL1 Nonsynonymous SNV A1275V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.11 147561 chr8 145167157 145167157 C G rs141421747 WDR97 Nonsynonymous SNV L976V 0 0.003 0.01 0 0 1 0 3 0 0 0 0 21.3 147562 chr19 50189956 50189956 C T rs376865286 PRMT1 Synonymous SNV I249I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 147563 chr8 145624744 145624744 C T rs151272774 CPSF1 Synonymous SNV P438P 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 9.261 147564 chr9 103334817 103334817 C G MSANTD3-TMEFF1, TMEFF1 Nonsynonymous SNV T380S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 147565 chr8 145662227 145662227 G A rs774422849 TONSL Synonymous SNV P601P 0 0.005 0 0 0 2 0 0 0 0 0 0 15.78 147566 chr1 8073700 8073700 G A rs151045316 ERRFI1 Nonsynonymous SNV P320L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 147567 chr8 145730673 145730673 G A rs758328894 GPT Synonymous SNV T180T 0 0.005 0 0 0 2 0 0 0 0 0 0 6.407 147568 chr8 145745676 145745676 A G rs761307574 LRRC14 Synonymous SNV E128E 0 0.008 0.003 2 0 3 0.005 1 0 0 0 0 1.532 147569 chr1 151105532 151105532 C A SEMA6C Nonsynonymous SNV A733S 0.003 0 0 0 4 0 0 0 0 0 0 0 3.438 147570 chr1 85648781 85648781 G C rs370879051 SYDE2 Stop gain S515X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 147571 chr7 100550253 100550253 G T MUC3A Nonsynonymous SNV Q278H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.791 147572 chr7 100550281 100550281 - TGA MUC3A P288delinsLT 0.001 0 0 2 1 0 0.005 0 0 0 0 0 147573 chr7 100550285 100550285 C G rs78054189 MUC3A Nonsynonymous SNV T289S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.072 147574 chr9 136404961 136404961 C T rs142549723 ADAMTSL2 Synonymous SNV N126N 0.004 0 0 0 5 0 0 0 0 0 0 0 18.55 147575 chr9 138661825 138661825 G A KCNT1 Nonsynonymous SNV A470T 0.003 0 0 0 3 0 0 0 0 0 0 0 29.2 147576 chr1 898153 898153 C A rs147703918 KLHL17 Nonsynonymous SNV L300M 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 23.8 147577 chr9 35649897 35649897 C T rs554260877 SIT1 Nonsynonymous SNV R180Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 147578 chr1 154127419 154127419 G T rs199776525 NUP210L Synonymous SNV T34T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 147579 chr9 139297270 139297270 A G ENTR1 Synonymous SNV S353S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.956 147580 chr21 41414596 41414596 T G rs181977833 DSCAM Synonymous SNV R1796R 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Benign 4.983 147581 chr21 42647535 42647535 G A BACE2 Nonsynonymous SNV R464K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 147582 chr1 94643464 94643464 G C rs751297503 ARHGAP29 Nonsynonymous SNV P850A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.544 147583 chr9 124080963 124080963 C T rs775670835 GSN Synonymous SNV G383G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 147584 chr1 156552226 156552226 G A rs188178074 TTC24 Nonsynonymous SNV G304S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 147585 chr1 98015146 98015146 T C rs116364703 DPYD Synonymous SNV Q498Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 0.139 147586 chr8 26623577 26623577 T C rs756195367 ADRA1A Synonymous SNV S453S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.603 147587 chr9 77390953 77390953 C T rs201136089 TRPM6 Synonymous SNV L1078L 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 13.39 147588 chr8 27462541 27462541 C T CLU Nonsynonymous SNV M243I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 147589 chr8 27824000 27824000 G C rs371870933 SCARA5 Nonsynonymous SNV L58V 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 23.4 147590 chr7 100684389 100684389 A C rs527722590 MUC17 Nonsynonymous SNV N3231T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 147591 chr7 100685634 100685634 C T rs145637034 MUC17 Nonsynonymous SNV S3646L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.19 147592 chr7 100696270 100696270 C T rs577795174 MUC17 Synonymous SNV C4369C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 147593 chr9 141015105 141015105 G A rs200950787 CACNA1B Synonymous SNV P2087P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.394 147594 chr9 78953171 78953171 C T rs184089801 PCSK5 Nonsynonymous SNV R1565W 0.009 0.023 0 1 10 9 0.003 0 0 0 0 0 23.5 147595 chr7 105207655 105207655 C T rs34310648 RINT1 Nonsynonymous SNV P418L 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 147596 chr8 3087606 3087606 A C CSMD1 Nonsynonymous SNV L1434R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 147597 chr7 107217959 107217959 G A rs775531692 DUS4L Nonsynonymous SNV S303N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 147598 chr20 18451325 18451325 T C rs11907020 MIR3192 0 0 0.014 0 0 0 0 4 0 0 0 0 5.873 147599 chr7 156745172 156745173 TT - NOM1 C333Wfs*4 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 147600 chr20 22563167 22563167 A T rs751442261 FOXA2 Nonsynonymous SNV F238Y 0 0 0.01 0 0 0 0 3 0 0 0 0 10.09 147601 chr7 123268962 123268962 G A rs184051315 ASB15 Nonsynonymous SNV R305Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.55 147602 chr8 55540258 55540258 G T rs778245191 RP1 Nonsynonymous SNV E1272D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.82 147603 chr9 13136133 13136133 T C rs61753784 MPDZ Synonymous SNV V1414V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 3.593 147604 chr8 56985727 56985727 A C RPS20 Synonymous SNV P94P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.986 147605 chr9 35906595 35906595 - CCACCACCACCACCACCC rs762598108 HRCT1 H105_P106insHHHHPH 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 147606 chr20 25228988 25228988 C G rs201771509 PYGB Nonsynonymous SNV H58Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 147607 chr20 25657113 25657113 G A rs201490468 ZNF337 Stop gain R271X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 147608 chrX 118377123 118377123 A G rs147630867 PGRMC1 Nonsynonymous SNV H113R 0.002 0.005 0.003 0 2 2 0 1 1 1 0 0 19.61 147609 chr8 67577966 67577966 A G rs74901890 VCPIP1 Synonymous SNV L410L 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.015 147610 chr9 71628769 71628769 C T rs143625692 PRKACG Synonymous SNV V80V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.864 147611 chr8 73937176 73937176 A G rs144319719 TERF1 Synonymous SNV L248L 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 6.336 147612 chr9 72459437 72459437 C T rs55859531 C9orf135 Nonsynonymous SNV R53C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 147613 chr9 72471575 72471575 C T rs7851894 C9orf135 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.88 147614 chr7 138601522 138601522 T C KIAA1549 Synonymous SNV T950T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 147615 chr22 24494010 24494010 C T rs146973365 CABIN1 Synonymous SNV H1274H 0 0 0 3 0 0 0.008 0 0 0 0 0 8.83 147616 chr8 86121636 86121636 T C rs187526876 E2F5 Nonsynonymous SNV I292T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.82 147617 chr8 86250518 86250518 G A rs77342877 CA1 Synonymous SNV S66S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.02 147618 chr20 3655254 3655254 A G ADAM33 Nonsynonymous SNV I166T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 147619 chr8 87081697 87081697 C G rs140592507 PSKH2 Nonsynonymous SNV R52P 0 0.005 0 0 0 2 0 0 0 0 0 0 32 147620 chr9 136578237 136578237 G A rs767736330 SARDH Nonsynonymous SNV T387M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 31 147621 chr8 87558846 87558846 G C rs41333046 CPNE3 Nonsynonymous SNV E252D 0.004 0.01 0.007 0 5 4 0 2 0 0 1 0 22.8 147622 chrX 153068895 153068895 G A rs377300947 PDZD4 Synonymous SNV I632I 0.002 0.005 0.007 0 2 2 0 2 0 1 1 0 8.689 147623 chr20 4229274 4229274 C T rs377564644 ADRA1D Nonsynonymous SNV V111M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 147624 chr8 98943422 98943422 G T rs371585254 MATN2 Synonymous SNV R128R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.018 147625 chr19 59023112 59023112 G A SLC27A5 Synonymous SNV L71L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.598 147626 chr9 103046641 103046641 G A rs200625698 INVS Synonymous SNV Q282Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.965 147627 chrX 35974189 35974189 G A rs371807838 CFAP47 Nonsynonymous SNV R429H 0 0.008 0 0 0 3 0 0 0 1 0 0 0.008 147628 chrX 11136693 11136693 C T rs147466639 HCCS Synonymous SNV N158N 0.002 0 0 0 2 0 0 0 1 0 0 0 16.02 147629 chr20 56285338 56285338 C G NKILA 0 0 0.003 0 0 0 0 1 0 0 0 0 7.605 147630 chrX 119387701 119387701 A G rs139816581 ZBTB33 Nonsynonymous SNV D144G 0.002 0 0 1 2 0 0.003 0 1 0 0 0 12.95 147631 chr20 2644104 2644104 C G rs766771973 IDH3B Nonsynonymous SNV V109L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 147632 chr9 15587664 15587664 G A rs73410288 CCDC171 Nonsynonymous SNV V16I 0.003 0 0 0 4 0 0 0 0 0 0 0 0.285 147633 chr9 16437048 16437048 G C rs145621565 BNC2 Nonsynonymous SNV P340A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.92 147634 chr9 16583015 16583015 A G rs147796593 BNC2 Synonymous SNV T91T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.628 147635 chr9 18928211 18928211 - TAG rs754310333 SAXO1 L356_A357insL 0.002 0 0 0 2 0 0 0 0 0 0 0 147636 chr9 19050566 19050566 G C rs144684784 RRAGA Synonymous SNV V303V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.646 147637 chr9 20986370 20986370 G C rs776457730 FOCAD Synonymous SNV L1604L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 0.866 147638 chr7 5662620 5662620 C T rs777624826 RNF216 Synonymous SNV G881G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.813 147639 chr7 16902271 16902271 C A rs145256786 AGR3 Nonsynonymous SNV M63I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.1 147640 chr10 101559103 101559103 C T rs149854486 ABCC2 Nonsynonymous SNV T336M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 1.109 147641 chr20 19970804 19970804 G A rs368610064 RIN2 Synonymous SNV L639L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.95 147642 chr20 62038045 62038045 G A rs764525788 KCNQ2 Synonymous SNV T829T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.272 147643 chr20 62191561 62191561 G A rs779461312 HELZ2 Synonymous SNV I1971I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.176 147644 chr20 62191606 62191606 G A rs778043746 HELZ2 Synonymous SNV N1956N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.499 147645 chr20 20243659 20243659 C T rs537261036 CFAP61 Synonymous SNV N796N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 5.902 147646 chr9 117803337 117803337 C T rs113892305 TNC Nonsynonymous SNV G1759R 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 33 147647 chr20 23425419 23425419 C T rs200735623 CSTL1 Synonymous SNV C114C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.653 147648 chr9 4118585 4118585 G T rs148572278 GLIS3 Nonsynonymous SNV S143Y 0.011 0 0.003 6 13 0 0.015 1 0 0 0 0 Benign/Likely benign 25.6 147649 chr20 24646071 24646071 T C rs139512326 SYNDIG1 Synonymous SNV I236I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.49 147650 chr20 62714821 62714821 C T rs779448811 LKAAEAR1 Nonsynonymous SNV G214R 0 0 0.003 0 0 0 0 1 0 0 0 0 29 147651 chr7 29035498 29035498 C A CPVL Nonsynonymous SNV V263L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 147652 chr7 29923633 29923647 CCCCCTCCCACCCCA - rs555650905 WIPF3 T178_P182del 0.001 0 0 0 1 0 0 0 0 0 0 0 147653 chr21 19770588 19770588 A - TMPRSS15 T69Hfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 147654 chr9 71867801 71867801 C T rs139636763 TJP2 Nonsynonymous SNV T1023M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.87 147655 chr21 31538358 31538358 T C rs148930702 CLDN17 Nonsynonymous SNV Q193R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.015 147656 chr7 34125588 34125588 T C rs150450201 BMPER Synonymous SNV P543P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.055 147657 chr20 32664891 32664914 GCGGTGGCGGTGGCAGTGGTGGTG - rs746258941 RALY G229_S236del 0.001 0 0 0 1 0 0 0 0 0 0 0 147658 chr1 220364615 220364615 C T rs773249438 RAB3GAP2 Nonsynonymous SNV A428T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29 147659 chr9 127618140 127618140 G A WDR38 Nonsynonymous SNV G54D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 147660 chr21 34109714 34109714 G A rs144102538 PAXBP1 Synonymous SNV I829I 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 12.04 147661 chr21 34143847 34143847 C T rs201970857 PAXBP1 Nonsynonymous SNV G45S 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 12.88 147662 chrX 74494288 74494288 G A rs749231284 UPRT Nonsynonymous SNV G67R 0.002 0 0 0 2 0 0 0 1 0 0 0 0.729 147663 chr9 130494465 130494465 C T rs369381688 TOR2A Nonsynonymous SNV R67H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 147664 chr21 37609633 37609633 T A rs200386903 DOP1B Nonsynonymous SNV F899Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 147665 chrX 10437590 10437590 C G rs114091079 MID1 Nonsynonymous SNV A478P 0.014 0.005 0.01 5 17 2 0.013 3 4 0 1 2 8.469 147666 chr21 38459639 38459639 T G rs773425574 TTC3 Nonsynonymous SNV F28V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.135 147667 chr9 130939952 130939952 G A rs748353462 CIZ1 Nonsynonymous SNV R470C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 147668 chr7 99769450 99769450 G A rs371704732 GPC2 Synonymous SNV T374T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 11.09 147669 chr1 227843351 227843351 G A rs201237726 ZNF678 Nonsynonymous SNV G491D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 147670 chr10 124348579 124348579 G A rs186303194 DMBT1 Nonsynonymous SNV D625N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 22.8 147671 chr10 124377854 124377854 C T rs747067265 DMBT1 Nonsynonymous SNV S981L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 147672 chr7 44804946 44804946 G A ZMIZ2 Synonymous SNV E644E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 147673 chr10 102089798 102089798 G T rs140503948 PKD2L1 Nonsynonymous SNV D21E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 147674 chr10 126370662 126370662 G T rs74533612 FAM53B Synonymous SNV P140P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.71 147675 chr10 126480382 126480382 G C rs112471520 EEF1AKMT2 Synonymous SNV G7G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 147676 chr10 127344646 127344646 T C rs751041069 TEX36 Synonymous SNV S128S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.214 147677 chr9 99113444 99113444 A G rs114277330 SLC35D2 Synonymous SNV Y143Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.559 147678 chr9 99522173 99522173 T C rs61735019 ZNF510 Synonymous SNV Q251Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.008 147679 chr9 99522671 99522671 T C rs41281908 ZNF510 Synonymous SNV T85T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.296 147680 chr9 99581676 99581676 G C rs34073647 ZNF782 Nonsynonymous SNV T186S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.918 147681 chrX 106959168 106959168 G A TSC22D3 Synonymous SNV A45A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.153 147682 chr10 129242460 129242460 C T rs41314432 DOCK1 Nonsynonymous SNV S1777L 0.006 0.016 0.007 0 7 6 0 2 0 1 0 0 33 147683 chrX 109931862 109931862 G A rs377115708 CHRDL1 Synonymous SNV D236D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 147684 chrX 107844703 107844703 G A COL4A5 Nonsynonymous SNV V677I 0.002 0 0 0 2 0 0 0 1 0 0 0 15.32 147685 chr8 118847781 118847781 C T rs61753260 EXT1 Nonsynonymous SNV V356I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 20.6 147686 chrX 122778452 122778452 T C rs201502187 THOC2 Synonymous SNV T545T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 1.716 147687 chr10 105793902 105793902 G A COL17A1 Synonymous SNV G1319G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.737 147688 chr8 120602788 120602788 T C rs149223629 ENPP2 Synonymous SNV G388G 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 6.177 147689 chr8 120814172 120814172 G A rs61753749 TAF2 Synonymous SNV G218G 0.009 0.003 0.014 2 10 1 0.005 4 0 0 0 0 12.61 147690 chr9 136272149 136272151 CTT - rs587743176 REXO4 K227del 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 147691 chr8 125025738 125025738 A G rs535637025 FER1L6 Nonsynonymous SNV K630R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.568 147692 chr9 136404894 136404894 A G rs761524523 ADAMTSL2 Nonsynonymous SNV E104G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 147693 chr10 135207754 135207754 C T rs374714619 MTG1 Synonymous SNV S10S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 15.15 147694 chr10 13642257 13642257 A G rs142307573 PRPF18 Nonsynonymous SNV E53G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22 147695 chr10 17216634 17216634 C T rs116026632 TRDMT1 Synonymous SNV V30V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.3 147696 chr7 72849620 72849620 G T rs782493264 FZD9 Nonsynonymous SNV R428L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 147697 chrX 123466772 123466772 C T rs779544714 TEX13D Nonsynonymous SNV A2V 0 0.005 0 2 0 2 0.005 0 0 1 0 1 7.567 147698 chr9 138650331 138650331 C T KCNT1 Synonymous SNV T229T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 147699 chrX 125299782 125299782 C T DCAF12L2 Synonymous SNV Q42Q 0 0 0 2 0 0 0.005 0 0 0 0 1 11.94 147700 chr10 19493828 19493828 T A rs74118860 MALRD1 Nonsynonymous SNV F738I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 147701 chr7 73933929 73933929 G A GTF2IRD1 Nonsynonymous SNV A298T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 147702 chr10 21785715 21785715 C A rs779733651 MIR1915HG 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 147703 chr22 19967633 19967633 C T rs369050821 ARVCF Synonymous SNV S343S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 147704 chr22 20127369 20127369 G A rs374648833 ZDHHC8 Nonsynonymous SNV V171M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 147705 chrX 152935942 152935942 G A rs149785603 PNCK Synonymous SNV G417G 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.765 147706 chrX 153033790 153033790 G A rs143340217 PLXNB3 Synonymous SNV L391L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.608 147707 chrX 140993828 140994037 TTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTC - MAGEC1 A229_F298del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 147708 chr10 23481837 23481837 C T PTF1A Synonymous SNV C126C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 147709 chrX 153207051 153207051 G A rs143192047 RENBP Synonymous SNV D275D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.357 147710 chr10 123843946 123843946 C T rs60531929 TACC2 Nonsynonymous SNV T644M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.8 147711 chr10 123970173 123970173 T C rs7083331 TACC2 Nonsynonymous SNV I156T 0.003 0 0.01 3 4 0 0.008 3 1 0 0 0 0.217 147712 chr10 123970399 123970399 G A rs114199549 TACC2 Synonymous SNV T231T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.849 147713 chr10 124045630 124045630 C T rs116148135 BTBD16 Synonymous SNV L85L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.73 147714 chrX 16669120 16669120 A G rs111783979 S100G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.33 147715 chrX 17394085 17394087 CCG - rs10590816 NHS P73del 0.001 0 0 0 1 0 0 0 0 0 0 0 147716 chr10 27009268 27009268 A G rs116424900 PDSS1 Nonsynonymous SNV K197E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.91 147717 chr10 124596456 124596456 G A rs768812676 CUZD1 Synonymous SNV F236F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.539 147718 chr20 62194513 62194513 C T rs200470494 HELZ2 Nonsynonymous SNV G1319S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.722 147719 chr7 82580075 82580075 C T PCLO Nonsynonymous SNV A3277T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 147720 chr7 87913198 87913198 G A rs773423426 STEAP4 Synonymous SNV H129H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 147721 chr10 30318175 30318175 T C rs191523028 JCAD Nonsynonymous SNV H301R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 147722 chr10 131506294 131506294 C T rs144397748 MGMT Synonymous SNV P87P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.33 147723 chr21 26978794 26978794 T C rs773677336 MRPL39 Nonsynonymous SNV K83E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 147724 chr7 91974351 91974351 A G rs201250536 ANKIB1 Synonymous SNV G352G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.143 147725 chrX 51640929 51640929 A G rs141770812 MAGED1 Synonymous SNV E535E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.749 147726 chr7 94293363 94293363 G A PEG10 Synonymous SNV E165E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.969 147727 chr9 14797560 14797560 T C rs779962707 FREM1 Nonsynonymous SNV K1259E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.09 147728 chr22 29711131 29711131 G A rs772459386 RASL10A Synonymous SNV P35P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 147729 chr10 134598531 134598531 G C NKX6-2 Synonymous SNV P241P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.947 147730 chr22 30144486 30144486 G A rs777272070 ZMAT5 Synonymous SNV D16D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.519 147731 chr9 15490119 15490119 A T PSIP1 Synonymous SNV A51A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 147732 chr22 30770293 30770293 A G KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 4.062 147733 chr9 20916902 20916902 A T rs142545136 FOCAD Nonsynonymous SNV M940L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 147734 chr22 31822621 31822621 A G DRG1 Nonsynonymous SNV Y245C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 147735 chr21 37642323 37642323 A G rs752081299 DOP1B Nonsynonymous SNV K1834E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 147736 chr10 48429305 48429305 G T rs370459077 GDF10 Nonsynonymous SNV A194E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.011 147737 chr8 145540230 145540230 G A rs200430497 DGAT1 Nonsynonymous SNV A485V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 6.855 147738 chr8 104438301 104438301 T G rs762519951 DCAF13 Synonymous SNV T132T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 147739 chr21 38600601 38600601 G A rs141247010 VPS26C Nonsynonymous SNV T69M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 147740 chr10 102054397 102054397 C T rs141868275 PKD2L1 Synonymous SNV R471R 0.01 0.013 0 1 12 5 0.003 0 0 0 0 0 Benign 13.48 147741 chr1 7886598 7886598 G C rs142921497 PER3 Nonsynonymous SNV L672F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.7 147742 chr10 18282133 18282133 G A rs567628480 SLC39A12 Synonymous SNV G348G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.96 147743 chr9 35043961 35043961 C T C9orf131 Synonymous SNV V410V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.68 147744 chr9 35650829 35650829 G A SIT1 Nonsynonymous SNV L8F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.718 147745 chr21 41414590 41414590 T C rs200764944 DSCAM Synonymous SNV R1798R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 0.258 147746 chr2 20824492 20824492 G A rs377682003 HS1BP3 Nonsynonymous SNV P262S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 147747 chr1 10713735 10713735 C T rs750085734 CASZ1 Synonymous SNV S793S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.987 147748 chr22 38240289 38240289 G T rs182859563 MIR658 0.003 0 0.01 0 4 0 0 3 0 0 0 0 8.337 147749 chr10 5435803 5435803 C T rs139311920 TUBAL3 Nonsynonymous SNV A300T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.84 147750 chr8 121222046 121222046 G A rs61753752 COL14A1 Nonsynonymous SNV S458N 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 Likely benign 23.1 147751 chr10 56138617 56138617 C T rs151119732 PCDH15 Synonymous SNV V59V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.32 147752 chr8 124266842 124266842 T C rs368339951 ZHX1 Nonsynonymous SNV T449A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 147753 chr10 61830619 61830619 G A rs750349884 ANK3 Synonymous SNV D3340D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.012 147754 chr9 71152177 71152177 A G rs147022534 TMEM252 X171R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 7.881 147755 chr1 12726681 12726681 G C rs185059004 AADACL4 Nonsynonymous SNV A387P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 147756 chr22 42607339 42607339 T C rs769573889 TCF20 Nonsynonymous SNV S1325G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.128 147757 chr1 16055642 16055642 A C rs577044690 PLEKHM2 Synonymous SNV R678R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.653 147758 chr10 38122026 38122026 T A rs114578096 ZNF248 Nonsynonymous SNV D86V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.02 147759 chr8 135614553 135614553 G C rs112892337 ZFAT Nonsynonymous SNV S408C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 25.9 147760 chr10 72531135 72531135 G A rs200946323 TBATA Synonymous SNV S352S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.698 147761 chr22 46787555 46787555 G A rs150599618 CELSR1 Synonymous SNV A2041A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 147762 chr10 120879920 120879920 T C rs146464623 DENND10 Synonymous SNV I32I 0 0.005 0 0 0 2 0 0 0 0 0 0 2.815 147763 chr22 47882574 47882574 T C rs4823649 LINC01644 0 0 0.058 0 0 0 0 17 0 0 1 0 0.092 147764 chr8 27364442 27364442 A C rs11996801 EPHX2 Synonymous SNV G131G 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 6.35 147765 chr8 27369379 27369379 G A rs72475822 EPHX2 Synonymous SNV P163P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 5.785 147766 chr10 73562991 73562991 G A rs556439248 CDH23 Synonymous SNV S322S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 147767 chr10 74100811 74100811 C T rs11552373 DNAJB12 Nonsynonymous SNV R192H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 27.6 147768 chr9 94495611 94495611 G A rs148340413 ROR2 Nonsynonymous SNV R244W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 147769 chr9 95027380 95027380 G A rs371250371 IARS1 Nonsynonymous SNV R511C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 147770 chr9 95063842 95063850 TGTCTTTAG - NOL8 T1015_D1017del 0 0.003 0 0 0 1 0 0 0 0 0 0 147771 chr8 2818724 2818724 T C rs769995996 CSMD1 Nonsynonymous SNV N3214S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.91 147772 chr10 124271528 124271528 C T rs11538140 HTRA1 Synonymous SNV D407D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 17.84 147773 chr9 95888858 95888858 G A rs538594312 NINJ1 Synonymous SNV S46S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.34 147774 chr8 3047567 3047567 A C rs779206733 CSMD1 Synonymous SNV S1755S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.781 147775 chr10 126370629 126370629 G A rs149221760 FAM53B Synonymous SNV S151S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.01 147776 chr22 20796383 20796383 A G rs754999951 KLHL22 Nonsynonymous SNV F628L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 147777 chr8 144809933 144809933 C T rs530019760 FAM83H Synonymous SNV P566P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.246 147778 chr8 42012310 42012310 G A rs199664300 AP3M2 Synonymous SNV A35A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.94 147779 chr1 23236997 23236997 A G rs55993650 EPHB2 Synonymous SNV Q817Q 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 5.625 147780 chr10 882433 882433 G C rs150827598 LARP4B Synonymous SNV V220V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.331 147781 chr10 134016152 134016152 C T rs553047637 DPYSL4 Synonymous SNV N428N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 147782 chr2 55870529 55870529 C T rs201681772 PNPT1 Synonymous SNV T646T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 18.96 147783 chr8 55542066 55542066 G C rs150728667 RP1 Nonsynonymous SNV G1875A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 0.02 147784 chr10 89473061 89473061 C T rs145230931 PAPSS2 Synonymous SNV F125F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 11.5 147785 chr10 90341960 90341960 G A rs147588689 RNLS Nonsynonymous SNV R75C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 147786 chr2 105959515 105959515 T C rs138797707 C2orf49 Synonymous SNV P159P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.987 147787 chr1 24447760 24447760 A G rs144029695 IL22RA1 Synonymous SNV S420S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.522 147788 chr2 109403305 109403305 G A rs113387415 CCDC138 Nonsynonymous SNV G24R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.47 147789 chrX 132458206 132458206 C T rs892205211 GPC4 Synonymous SNV A226A 0 0.005 0 0 0 2 0 0 0 1 0 0 8.388 147790 chr10 135209735 135209735 C T MTG1 Synonymous SNV L82L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 147791 chr22 26291145 26291145 C T rs118112071 MYO18B Synonymous SNV F1523F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.66 147792 chrX 13626473 13626473 C T rs199623111 EGFL6 Nonsynonymous SNV T229M 0 0.005 0 1 0 2 0.003 0 0 1 0 0 10.93 147793 chr10 98064311 98064311 G A rs777964414 DNTT Synonymous SNV T19T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.444 147794 chr22 29445804 29445804 C T rs755775934 ZNRF3 Synonymous SNV D545D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.576 147795 chr2 119600769 119600769 G A rs139728151 EN1 Synonymous SNV T308T 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 14.48 147796 chr2 120003180 120003180 C T rs764890933 STEAP3 Synonymous SNV S36S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 147797 chrX 152139014 152139014 G A rs782404951 ZNF185 Nonsynonymous SNV D305N 0 0.005 0 0 0 2 0 0 0 1 0 0 23.4 147798 chr10 21805207 21805207 C A SKIDA1 Nonsynonymous SNV E515D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 147799 chr2 122494330 122494330 T C rs150674424 NIFK Nonsynonymous SNV I33V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 147800 chrX 153688736 153688736 C T rs138811959 PLXNA3 Synonymous SNV V71V 0.002 0.005 0 0 2 2 0 0 0 1 0 0 6.42 147801 chr22 30921869 30921869 C T rs556275669 SEC14L6 Nonsynonymous SNV V239M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.915 147802 chr10 25288341 25288341 G A rs758192465 ENKUR Nonsynonymous SNV T71I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.779 147803 chr2 133175404 133175404 T C rs751765671 GPR39 Synonymous SNV P263P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 147804 chr10 26856281 26856281 C T rs200114349 APBB1IP Nonsynonymous SNV A622V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 22.3 147805 chr1 35476414 35476414 T C rs367908302 ZMYM6 Nonsynonymous SNV K429R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.584 147806 chr2 135744319 135744319 C T MAP3K19 Nonsynonymous SNV R595K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 147807 chr1 36784869 36784869 G A rs141873075 SH3D21 Nonsynonymous SNV R180Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 147808 chr8 17868817 17868817 A C rs147479448 PCM1 Nonsynonymous SNV R1701S 0.005 0 0 0 6 0 0 0 0 0 0 0 18.32 147809 chr22 32239141 32239141 C T rs200744555 DEPDC5 Nonsynonymous SNV T781M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 33 147810 chr8 99169967 99169967 T C rs199547087 POP1 Nonsynonymous SNV I848T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.57 147811 chr10 29840149 29840149 T C rs138919577 SVIL Synonymous SNV E68E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.98 147812 chr2 97529832 97529832 G A rs373612373 SEMA4C Synonymous SNV P387P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.111 147813 chr1 39494418 39494418 A C NDUFS5 Nonsynonymous SNV K8Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.225 147814 chr8 21842329 21842329 A G rs201923651 XPO7 Nonsynonymous SNV M462V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.301 147815 chr10 35930010 35930010 G C rs61754570 FZD8 Synonymous SNV A116A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.64 147816 chr11 1017772 1017772 C T rs199757729 MUC6 Nonsynonymous SNV G1677R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.033 147817 chr8 21904103 21904103 A - FGF17 K95Sfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 147818 chr2 152425820 152425820 C T rs149881695 NEB Nonsynonymous SNV V4132I 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 147819 chr2 153504371 153504371 T G rs182064759 FMNL2 Nonsynonymous SNV F1077L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 16.62 147820 chr9 106877031 106877031 G T SMC2 Nonsynonymous SNV S531I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.4 147821 chrX 55033510 55033510 C T APEX2 Nonsynonymous SNV S229F 0.002 0.008 0 1 2 3 0.003 0 0 1 0 0 15.42 147822 chrX 55033781 55033781 C T APEX2 Synonymous SNV R319R 0.002 0.008 0 1 2 3 0.003 0 0 1 0 0 12 147823 chrX 55650972 55650972 G T rs760150518 FOXR2 Synonymous SNV G276G 0.003 0.008 0 1 3 3 0.003 0 0 1 0 0 0.054 147824 chr22 39112863 39112863 A G GTPBP1 Nonsynonymous SNV H231R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.738 147825 chr2 160761153 160761153 A G LY75, LY75-CD302 Nonsynonymous SNV L14P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 147826 chr10 49931540 49931540 C T rs189437309 WDFY4 Synonymous SNV L173L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 147827 chrX 71350266 71350268 CTC - rs778540620 RTL5 E375del 0 0.005 0 2 0 2 0.005 0 0 1 0 0 147828 chr10 93600377 93600377 A G rs148894170 TNKS2 Synonymous SNV P529P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.465 147829 chr10 95119733 95119733 A C rs755716005 MYOF Nonsynonymous SNV W980G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 147830 chr22 41980057 41980057 G T rs138410974 PMM1 Nonsynonymous SNV T127N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 147831 chr8 27348787 27348787 G A EPHX2 Nonsynonymous SNV G21D 0.003 0 0 0 3 0 0 0 0 0 0 0 16.43 147832 chr8 27528784 27528784 G A SCARA3 Nonsynonymous SNV M579I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.01 147833 chr11 103029458 103029458 C T DYNC2H1 Nonsynonymous SNV H1394Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.16 147834 chr2 168107138 168107138 C A XIRP2 Nonsynonymous SNV T2857K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.249 147835 chr2 168107680 168107680 G T XIRP2 Stop gain E3038X 0 0 0.003 0 0 0 0 1 0 0 0 0 47 147836 chr1 46751247 46751247 C T rs779344152 LRRC41 Nonsynonymous SNV E428K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 147837 chr2 170082936 170082936 T C rs138070797 LRP2 Nonsynonymous SNV N1797S 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign 9.969 147838 chr1 47283878 47283878 G A rs141281141 CYP4B1 Nonsynonymous SNV G287R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 147839 chr8 30916058 30916058 A G rs34477820 WRN Nonsynonymous SNV K32R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 147840 chr2 121747520 121747520 C T rs149290823 GLI2 Synonymous SNV L1202L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 8.475 147841 chr8 37695258 37695258 G A rs199799909 ADGRA2 Nonsynonymous SNV G687D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.6 147842 chr2 122485926 122485926 G A rs139750791 NIFK Nonsynonymous SNV R211C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.11 147843 chr1 53535830 53535830 A G rs766431078 PODN Synonymous SNV L101L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.096 147844 chr11 108123551 108123551 C T rs2227922 ATM Nonsynonymous SNV P604S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 147845 chr2 128322821 128322821 G A rs200299859 MYO7B Nonsynonymous SNV R49Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.014 147846 chr10 99327674 99327674 G A rs148532930 UBTD1 Nonsynonymous SNV R25H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 147847 chr11 1093134 1093134 C A rs768453905 MUC2 Synonymous SNV T1651T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.301 147848 chr11 1093590 1093590 A G rs757254136 MUC2 Synonymous SNV P1803P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.172 147849 chr2 135160648 135160648 C T rs139534721 MGAT5 Synonymous SNV Y490Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 14.16 147850 chr2 135745108 135745108 C T rs144127723 MAP3K19 Nonsynonymous SNV S332N 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.002 147851 chr1 55167882 55167882 G T rs151176802 MROH7 Synonymous SNV L653L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 8.247 147852 chr10 61829549 61829549 G C rs148109897 ANK3 Nonsynonymous SNV S3697C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.09 147853 chr10 71266703 71266703 G T rs148515448 TSPAN15 Nonsynonymous SNV G198V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23 147854 chr2 152507189 152507189 C G rs141155976 NEB Nonsynonymous SNV V2376L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 147855 chr8 69380972 69380972 C T C8orf34 Nonsynonymous SNV P218L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 147856 chr1 65858137 65858137 T A rs145329294 DNAJC6 Nonsynonymous SNV C498S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.367 147857 chr1 67390443 67390443 G T rs200781785 WDR78 Nonsynonymous SNV F24L 0 0 0 3 0 0 0.008 0 0 0 0 0 1.008 147858 chr10 72537065 72537065 C T rs369283142 TBATA Synonymous SNV R179R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.748 147859 chr10 75506597 75506597 G C rs112791997 SEC24C Nonsynonymous SNV V3L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22.6 147860 chr11 118963686 118963686 T C HMBS Synonymous SNV D249D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.301 147861 chr1 68624881 68624881 G A rs144335297 WLS Synonymous SNV D52D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.625 147862 chr10 120085698 120085698 C T FAM204A Nonsynonymous SNV E171K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 147863 chr11 101834550 101834550 A C CEP126 Nonsynonymous SNV E928D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.9 147864 chrX 11160419 11160419 G T rs72558047 ARHGAP6 Nonsynonymous SNV P551T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.42 147865 chr1 82402423 82402423 G A ADGRL2 Nonsynonymous SNV R100Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.9 147866 chr10 121658467 121658467 C G rs756728400 SEC23IP Nonsynonymous SNV P231R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 147867 chrX 18189185 18189185 G A rs149017891 BEND2 Synonymous SNV N616N 0.003 0 0 0 3 0 0 0 0 0 0 0 2.86 147868 chr2 20189981 20189981 G T rs78449129 LOC101928222 0 0 0.007 0 0 0 0 2 0 0 0 0 7.068 147869 chr2 171055772 171055772 A G rs35745676 MYO3B Synonymous SNV S19S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.574 147870 chr1 86196305 86196305 A G rs189025471 COL24A1 Nonsynonymous SNV I990T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.59 147871 chr9 134072669 134072671 CTT - rs754443681 NUP214 S90del 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 147872 chrX 30578111 30578111 C A rs150949392 CXorf21 Nonsynonymous SNV C121F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 147873 chr9 134385750 134385750 G A rs369644530 POMT1 Nonsynonymous SNV R116H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 26.8 147874 chr2 207527977 207527977 - CC rs534558800 DYTN Frameshift insertion E428Gfs*61 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 147875 chr9 135205764 135205764 T C rs377618570 SETX Synonymous SNV T407T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.245 147876 chrX 48319041 48319041 C T SLC38A5 Synonymous SNV L354L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 13.73 147877 chr10 96039634 96039634 C T rs531683918 PLCE1 Synonymous SNV D1279D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.61 147878 chrX 48922605 48922605 G A CCDC120 Nonsynonymous SNV E255K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 147879 chr10 96535209 96535209 C T rs149590953 CYP2C19 Nonsynonymous SNV R132W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.1 147880 chr9 102591097 102591097 C G rs112002668 NR4A3 Nonsynonymous SNV P258R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 147881 chrX 49958477 49958477 C T rs141513690 AKAP4 Nonsynonymous SNV G296D 0.004 0 0.007 2 5 0 0.005 2 1 0 1 1 11.94 147882 chr2 211438090 211438090 C T rs192759073 CPS1 Synonymous SNV S65S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.39 147883 chrX 54784066 54784066 G A ITIH6 Nonsynonymous SNV T814I 0.001 0 0.007 0 1 0 0 2 0 0 1 0 7.593 147884 chr9 1056877 1056877 C A rs113111105 DMRT2 Synonymous SNV S256S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.9 147885 chr10 90770552 90770552 C T rs758835365 FAS Nonsynonymous SNV P183L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.006 147886 chrX 66765161 66765161 - GCAGCAGCAGCAGCA AR Q80_E81insQQQQQ 0.003 0 0 0 3 0 0 0 0 0 0 0 147887 chr10 91528611 91528611 C T rs746257047 KIF20B Synonymous SNV F1736F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.04 147888 chr10 94264576 94264576 C T rs752463347 IDE Nonsynonymous SNV D430N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 147889 chr11 129727331 129727331 G A rs200543680 TMEM45B Nonsynonymous SNV V232I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 147890 chr11 129817133 129817133 C A rs369675039 PRDM10 Nonsynonymous SNV D57Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.6 147891 chrX 79698369 79698369 T C rs150129047 TENT5D Nonsynonymous SNV F111L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.114 147892 chr11 129817134 129817134 C G rs371931343 PRDM10 Nonsynonymous SNV E56D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.002 147893 chr11 130343516 130343516 G A rs150684307 ADAMTS15 Nonsynonymous SNV V885M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.51 147894 chr11 14496065 14496065 C T rs747965899 COPB1 Synonymous SNV L571L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.84 147895 chr11 118772868 118772868 G A rs779579034 BCL9L Synonymous SNV Y528Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.131 147896 chr11 1651094 1651094 - GGCTGTGGCTCCGGCTGTGGAGGCCTTGGCTCCGGCTGTGGG rs750248117 KRTAP5-5 G16_R17insLGSGCGGCGSGCGG 0.004 0.016 0.007 2 5 6 0.005 2 0 0 0 0 147897 chr2 220333419 220333419 A G SPEG Nonsynonymous SNV S1088G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 147898 chrX 107977776 107977776 G A rs766206774 IRS4 Nonsynonymous SNV S600F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 147899 chr11 17450116 17450116 G A rs369049969 ABCC8 Nonsynonymous SNV A640V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.54 147900 chr1 110740903 110740903 G A rs796052160 SLC6A17 Nonsynonymous SNV R674H 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 33 147901 chr11 120200698 120200698 C T rs147941234 TLCD5 Nonsynonymous SNV T93I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 147902 chr11 18373503 18373503 A G rs200213892 GTF2H1 Nonsynonymous SNV K377E 0.002 0 0 0 2 0 0 0 0 0 0 0 19.1 147903 chr11 18579801 18579801 T G rs749978105 UEVLD Nonsynonymous SNV N100T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 147904 chr2 196759808 196759808 - T rs573013205 DNAH7 Stop gain Y1596* 0.001 0 0.007 0 1 0 0 2 0 0 0 0 147905 chr2 224760312 224760312 G A WDFY1 Nonsynonymous SNV R212W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 147906 chr9 121930139 121930139 G A rs756958280 BRINP1 Synonymous SNV T503T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.252 147907 chr9 19050478 19050478 T C RRAGA Nonsynonymous SNV V274A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 25.4 147908 chr9 19286861 19286861 A C rs536520891 DENND4C Nonsynonymous SNV T134P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.36 147909 chr2 228881520 228881520 T A rs373803702 SPHKAP Nonsynonymous SNV R1350S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 147910 chr10 3214937 3214937 G A rs572092794 PITRM1 Nonsynonymous SNV P12L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 1.057 147911 chrX 150840687 150840707 GGAGCAGCAGCGGCAGCTGCG - rs764610027 PASD1 Q493_Q499del 0.007 0.003 0 9 8 1 0.023 0 1 0 0 3 147912 chrX 150844499 150844499 C T rs140318659 PASD1 Nonsynonymous SNV P736S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 147913 chr2 232104722 232104722 G C ARMC9 Nonsynonymous SNV A283P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 147914 chrX 150912189 150912189 T C CNGA2 Nonsynonymous SNV M405T 0.002 0 0 2 2 0 0.005 0 0 0 0 1 18.9 147915 chr2 233712227 233712227 - CAG rs376678075 GIGYF2 Q1210_P1211insQ 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 147916 chrX 153184386 153184386 G A rs145727816 ARHGAP4 Nonsynonymous SNV A311V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 18.08 147917 chr1 145530362 145530362 - GGAAACTGTTT rs782312872 ITGA10 Frameshift insertion I54Gfs*37 0 0 0 4 0 0 0.01 0 0 0 0 0 147918 chr9 128099720 128099720 C G rs374662210 GAPVD1 Synonymous SNV V888V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.52 147919 chr11 2930941 2930941 G A rs749398489 SLC22A18 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 147920 chr11 125788533 125788533 A G rs149840641 DDX25 Nonsynonymous SNV N236S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.401 147921 chr1 150256879 150256879 G A rs137955605 CIART Synonymous SNV Q162Q 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 Benign 9.928 147922 chr9 130511939 130511939 C T rs372115939 SH2D3C Synonymous SNV S72S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.41 147923 chr1 151016150 151016150 C G rs144766190 BNIPL Synonymous SNV A184A 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 14.36 147924 chr9 131360712 131360712 A G rs145516440 SPTAN1 Nonsynonymous SNV I1130V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.6 147925 chr11 128354963 128354963 T C rs142279599 ETS1 Nonsynonymous SNV Y162C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23 147926 chr11 34378788 34378788 G C ABTB2 Nonsynonymous SNV R115G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.201 147927 chr1 152128066 152128066 G A rs72995312 RPTN Synonymous SNV D503D 0.005 0 0.007 5 6 0 0.013 2 0 0 0 0 2.167 147928 chr10 102987159 102987159 G C rs200155323 LBX1 Synonymous SNV P238P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.877 147929 chr10 103344547 103344547 C G rs772445344 POLL Nonsynonymous SNV V235L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 147930 chr11 1718734 1718734 C T rs139546703 KRTAP5-6 Stop gain Q87X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 147931 chr2 241974133 241974133 G A rs776019058 SNED1 Nonsynonymous SNV G264D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 147932 chr11 118764449 118764449 G A rs774152337 CXCR5 Nonsynonymous SNV V21M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.751 147933 chr10 55582088 55582088 C T rs111033463 PCDH15 Nonsynonymous SNV V1760I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.001 147934 chr11 111637064 111637064 C G rs142771326 PPP2R1B Nonsynonymous SNV G8R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.54 147935 chr11 111707001 111707001 T C rs138584071 ALG9 Nonsynonymous SNV I319V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24 147936 chr11 18028200 18028200 G C rs368889802 SERGEF Nonsynonymous SNV S97C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 147937 chr10 112541576 112541576 C T rs397516592 RBM20 Synonymous SNV H403H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 9.919 147938 chr11 18736139 18736139 C G rs200364605 IGSF22 Nonsynonymous SNV D522H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 147939 chr2 27355580 27355580 G A rs146357691 PREB Nonsynonymous SNV R143W 0 0 0.007 0 0 0 0 2 0 0 0 0 17.18 147940 chr2 27865294 27865294 A G GPN1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 147941 chr9 90501423 90501423 C T SPATA31E1 Nonsynonymous SNV A674V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.14 147942 chr11 20177868 20177868 C T rs143111791 DBX1 Synonymous SNV P308P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 13.48 147943 chr9 95482669 95482669 G A rs368131334 BICD2 Synonymous SNV L325L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.594 147944 chr9 95738866 95738866 G A rs763430522 FGD3 Nonsynonymous SNV E110K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.729 147945 chr1 156849871 156849871 C T NTRK1 Synonymous SNV D703D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.1 147946 chr9 97321266 97321266 A G rs142157727 FBP2 Nonsynonymous SNV V325A 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 147947 chr9 98011545 98011545 C T rs143152201 FANCC Nonsynonymous SNV C10Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.21 147948 chr9 139272033 139272033 C T rs772263342 SNAPC4 Nonsynonymous SNV G1416R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.004 147949 chr9 139277997 139277997 - GCTGCT SNAPC4 S542_E543insSS 0.003 0.003 0 0 3 1 0 0 0 0 0 0 147950 chr2 33809851 33809851 T C rs116221550 FAM98A Nonsynonymous SNV T322A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 147951 chr9 139368725 139368725 G A rs370328979 SEC16A Nonsynonymous SNV R1115W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 147952 chr11 119535678 119535686 CCTCCTCCT - rs751372293 NECTIN1 E442_E444del 0 0.005 0 0 0 2 0 0 0 0 0 0 147953 chr2 38298287 38298287 - GGTGGCATGA rs587778873 CYP1B1 Frameshift insertion T404Sfs*30 0.003 0 0.003 0 3 0 0 1 0 0 0 0 147954 chr11 3039866 3039866 G A rs80041195 CARS Synonymous SNV A420A 0.004 0.013 0.007 1 5 5 0.003 2 0 0 0 0 Benign 12.15 147955 chr10 73447449 73447449 G A rs547668692 CDH23 Nonsynonymous SNV V678I 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 24.1 147956 chr10 75289356 75289356 T C USP54 Synonymous SNV R714R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.264 147957 chr9 139916009 139916009 C T rs375709058 ABCA2 Synonymous SNV S244S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.1 147958 chr2 44502921 44502921 C T rs148946634 SLC3A1 Nonsynonymous SNV R83C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 147959 chr11 34129804 34129804 G T rs745685344 NAT10 Nonsynonymous SNV R11L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 147960 chr9 140079462 140079462 G A rs375455687 ANAPC2 Synonymous SNV A317A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.573 147961 chr2 54001512 54001512 T C CHAC2 Synonymous SNV A135A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.115 147962 chr9 140357962 140357962 C T rs553960639 PNPLA7 Nonsynonymous SNV R1058H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 147963 chr1 167341183 167341183 G A rs547434928 POU2F1 Synonymous SNV S93S 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 12.37 147964 chrX 147027086 147027086 C T FMR1 Nonsynonymous SNV P542S 0.003 0 0 2 3 0 0.005 0 1 0 0 1 22.9 147965 chr9 14808066 14808066 C T FREM1 Nonsynonymous SNV G987D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.89 147966 chr2 61632918 61632918 T C rs17483594 USP34 Synonymous SNV L159L 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 0.419 147967 chr11 134062648 134062648 C A rs151013524 NCAPD3 Nonsynonymous SNV D523Y 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Uncertain significance 25.4 147968 chr11 46001327 46001327 T C rs143629966 PHF21A Nonsynonymous SNV N115S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 147969 chr2 68729978 68729980 AAT - APLF K95_Y96delinsN 0 0 0.003 0 0 0 0 1 0 0 0 0 147970 chr10 135106053 135106053 G A rs139576034 TUBGCP2 Synonymous SNV F258F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.701 147971 chrX 25031648 25031671 GCCGCGGCGGCCGCGGCCGCGGCT - rs398124510 ARX A148_A155del 0.003 0 0 4 4 0 0.01 0 2 0 0 2 147972 chr3 404921 404921 A T rs146218538 CHL1 Nonsynonymous SNV K480N 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 10.87 147973 chr11 18380169 18380169 G A rs775040290 GTF2H1 Synonymous SNV T483T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.2 147974 chr11 128772467 128772467 G A rs375874714 C11orf45 Synonymous SNV S141S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.399 147975 chr10 99132861 99132861 G A rs140071458 RRP12 Nonsynonymous SNV A608V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 147976 chr1 182763490 182763490 G T rs371973540 NPL 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.96 147977 chr11 129817269 129817269 G A rs151054382 PRDM10 Synonymous SNV A11A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.392 147978 chrX 32490401 32490401 G A DMD Synonymous SNV R935R 0.003 0 0 2 3 0 0.005 0 1 0 0 1 2.362 147979 chr10 25138783 25138783 T C rs146174646 PRTFDC1 Nonsynonymous SNV Y223C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 147980 chr2 84936593 84936593 G A rs913583503 DNAH6 Nonsynonymous SNV D3059N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 29.6 147981 chr11 20623174 20623174 C T SLC6A5 Nonsynonymous SNV S168F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 29.5 147982 chr2 86359543 86359543 T C PTCD3 Nonsynonymous SNV Y457H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.7 147983 chr1 200378748 200378748 C T rs779089714 ZNF281 Nonsynonymous SNV G29D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.34 147984 chr2 96906095 96906095 C A rs758634978 STARD7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.652 147985 chr2 97589274 97589274 C T rs143763449 FAM178B Nonsynonymous SNV A414T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 147986 chr9 710972 710972 C T rs61737969 KANK1 Nonsynonymous SNV P69L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 14.66 147987 chr2 98543945 98543945 C T rs149366039 TMEM131 Nonsynonymous SNV V65I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.76 147988 chr10 35896571 35896571 G A rs140432471 GJD4 Nonsynonymous SNV V44I 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 15.04 147989 chr11 18306978 18306978 A G rs147430035 HPS5 Nonsynonymous SNV Y842H 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 25.2 147990 chr10 43650986 43650986 A G rs200474280 CSGALNACT2 Nonsynonymous SNV K130R 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 12.49 147991 chr2 99012938 99012938 G A rs150008953 CNGA3 Synonymous SNV T417T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.514 147992 chr9 71998632 71998632 C T rs189025807 FAM189A2 Nonsynonymous SNV P194L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 35 147993 chr2 99980862 99980862 T C rs139598770 EIF5B Synonymous SNV T422T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.283 147994 chr3 10094089 10094089 G T rs777340649 FANCD2 Nonsynonymous SNV D522Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 147995 chr3 18391132 18391132 - CTG rs766596253 SATB1 Q535_A536insQ 0.001 0.005 0 0 1 2 0 0 0 0 0 0 147996 chr3 101535769 101535769 A G rs753536593 NXPE3 Synonymous SNV L351L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.442 147997 chr10 101603631 101603631 A G rs8187699 ABCC2 Nonsynonymous SNV T1273A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 20.8 147998 chr10 101659795 101659795 C T rs12260203 DNMBP Synonymous SNV E493E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.04 147999 chr10 101728897 101728897 C A rs12267912 DNMBP Nonsynonymous SNV E81D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.2 148000 chr11 31811548 31811548 C A PAX6 Nonsynonymous SNV C215F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 148001 chr11 197716 197716 A T rs905632288 ODF3 Nonsynonymous SNV I89F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.6 148002 chr10 103558868 103558868 T A rs142407884 OGA Nonsynonymous SNV M461L 0 0 0 2 0 0 0.005 0 0 0 0 0 16.98 148003 chr11 33370772 33370780 AGTACTCTG - rs768788868 HIPK3 L897_T899del 0 0.003 0 0 0 1 0 0 0 0 0 0 148004 chr10 104121498 104121498 G C rs148115728 GBF1 Nonsynonymous SNV E505D 0 0 0 2 0 0 0.005 0 0 0 0 0 6.027 148005 chr10 104136798 104136798 C T rs372566383 GBF1 Synonymous SNV T1465T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.87 148006 chr10 104165121 104165121 C T PSD Nonsynonymous SNV D770N 0 0 0 2 0 0 0.005 0 0 0 0 0 33 148007 chr10 104173597 104173597 G A rs142406807 PSD Synonymous SNV A494A 0 0 0 2 0 0 0.005 0 0 0 0 0 9.218 148008 chr10 104176357 104176357 G T rs138323313 PSD Synonymous SNV R147R 0 0 0 2 0 0 0.005 0 0 0 0 0 9.033 148009 chr1 205241038 205241038 C T rs149286184 TMCC2 Nonsynonymous SNV A414V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 148010 chr3 38039623 38039623 G A rs775213917 VILL Synonymous SNV A99A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.838 148011 chr10 105836066 105836066 C T rs61731085 COL17A1 Synonymous SNV A108A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 12.35 148012 chr3 38991759 38991759 G A rs150835546 SCN11A Nonsynonymous SNV A32V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 23 148013 chr11 430157 430157 C T rs897359800 ANO9 Nonsynonymous SNV D89N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.419 148014 chr10 112581619 112581619 C T RBM20 Nonsynonymous SNV P1081L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 148015 chr11 30352906 30352906 G A ARL14EP Synonymous SNV R137R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.547 148016 chr9 98734653 98734653 A G rs957036220 ERCC6L2 Nonsynonymous SNV I885V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 2.348 148017 chr11 31329349 31329349 C T rs759454548 DCDC1 Nonsynonymous SNV G91R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 18.21 148018 chr3 121204025 121204025 G A rs147121503 POLQ Nonsynonymous SNV S1879L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.191 148019 chr11 3249755 3249755 G A rs751476188 MRGPRE Nonsynonymous SNV P92L 0 0.003 0 0 0 1 0 0 0 0 0 0 14 148020 chr10 61028448 61028448 C T rs145107572 FAM13C Synonymous SNV P269P 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 11.74 148021 chrX 10469586 10469586 T C rs766674547 MID1 Nonsynonymous SNV Q257R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.398 148022 chr10 115894702 115894702 G A rs146555801 CCDC186 Nonsynonymous SNV T542I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.272 148023 chr3 122001019 122001019 G A rs186279271 CASR Synonymous SNV E556E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.126 148024 chr11 34139790 34139790 G A NAT10 Synonymous SNV L135L 0 0.005 0 0 0 2 0 0 0 0 0 0 7.839 148025 chr3 44636621 44636621 G A rs145969286 ZNF660 Synonymous SNV R312R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.182 148026 chr11 58979709 58979709 G A rs142542166 MPEG1 Synonymous SNV D210D 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 0.004 148027 chr10 118969225 118969225 G A rs752333582 KCNK18 Synonymous SNV P190P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.266 148028 chr3 124728625 124728625 C T rs775860473 HEG1 Nonsynonymous SNV M1039I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.127 148029 chr3 45772831 45772831 A G rs79240996 SACM1L Synonymous SNV T259T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 8.488 148030 chr3 45817328 45817328 C T rs13314717 SLC6A20 Synonymous SNV E169E 0.003 0.003 0.014 0 3 1 0 4 1 0 0 0 Likely benign 12.54 148031 chr3 46480854 46480854 G A rs144149027 LTF Nonsynonymous SNV P570L 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 27.8 148032 chr11 46784237 46784237 T C CKAP5 Nonsynonymous SNV S1323G 0 0.003 0 0 0 1 0 0 0 0 0 0 25 148033 chr3 46755799 46755799 G A rs564886638 PRSS50 Synonymous SNV Y221Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.264 148034 chr3 46871970 46871970 C - rs767434827 PRSS42P 0.002 0 0 0 2 0 0 0 0 0 0 0 148035 chr11 47200779 47200779 G A rs563675998 PACSIN3 Synonymous SNV D277D 0 0.005 0 0 0 2 0 0 0 0 0 0 9.442 148036 chrX 14627259 14627259 G T GLRA2 Nonsynonymous SNV A288S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 148037 chr11 121016595 121016595 A G TECTA Nonsynonymous SNV E1292G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 148038 chr3 48474198 48474198 C A rs766983169 CCDC51 Nonsynonymous SNV A286S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.196 148039 chr10 75551840 75551840 C T rs781757535 ZSWIM8 Nonsynonymous SNV R515W 0 0.005 0 0 0 2 0 0 0 0 0 0 24.1 148040 chr10 127824167 127824167 C T rs12098586 ADAM12 Synonymous SNV T134T 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 17.94 148041 chr10 129350842 129350842 C T rs780005663 NPS Nonsynonymous SNV S70F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 31 148042 chr3 49690733 49690733 G A rs774678530 BSN Synonymous SNV T1248T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.283 148043 chr11 123624553 123624553 C T rs140203672 OR6X1 Nonsynonymous SNV R225Q 0.003 0.003 0.017 1 4 1 0.003 5 0 0 0 0 16.75 148044 chr3 130190613 130190613 A G rs554216815 COL6A5 Synonymous SNV L2554L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.134 148045 chr3 50380560 50380560 G A rs767001214 ZMYND10 Synonymous SNV D196D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.287 148046 chr10 133950531 133950531 A T rs773420827 JAKMIP3 Nonsynonymous SNV R303S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 148047 chr3 51430631 51430631 A G rs201691155 RBM15B Nonsynonymous SNV S601G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.372 148048 chr3 133099025 133099025 C A rs376720769 TMEM108 Nonsynonymous SNV P157H 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 15.42 148049 chr3 51977429 51977429 C T rs559905723 PARP3 Nonsynonymous SNV R27W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 148050 chrX 18221942 18221942 C T rs147763153 BEND2 Nonsynonymous SNV E196K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 4.058 148051 chr3 52398707 52398707 G A rs149285738 DNAH1 Synonymous SNV G1766G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.27 148052 chr3 52556184 52556184 C G rs143242234 STAB1 Nonsynonymous SNV P2135A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 22.8 148053 chr11 57185240 57185240 G T SLC43A3 Nonsynonymous SNV P218T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 148054 chr3 138186974 138186974 G A rs6772467 ESYT3 Nonsynonymous SNV G416R 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 32 148055 chr11 64120895 64120895 C T rs147058959 CCDC88B Nonsynonymous SNV R1254W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 35 148056 chr11 6452695 6452695 G A rs150488733 HPX Nonsynonymous SNV R379W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 148057 chr11 6462158 6462158 C T rs139537561 HPX Synonymous SNV G12G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.595 148058 chr3 142281353 142281353 C G rs2229033 ATR Nonsynonymous SNV K297N 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 Benign/Likely benign 15.4 148059 chr3 58303793 58303793 G A HTD2 Synonymous SNV K151K 0.002 0 0 0 2 0 0 0 0 0 0 0 17.57 148060 chr3 148552329 148552329 C T rs146944241 CPB1 Synonymous SNV H64H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.12 148061 chr11 58477535 58477535 G A rs138125182 GLYAT Nonsynonymous SNV R199C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 148062 chr3 149485256 149485256 G A rs996147548 ANKUB1 Nonsynonymous SNV P398L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.791 148063 chrX 54282254 54282254 G T rs55819333 WNK3 Synonymous SNV G723G 0.003 0.005 0 0 3 2 0 0 0 1 0 0 Benign 7.53 148064 chr3 150301685 150301685 A C rs764532622 EIF2A Nonsynonymous SNV E521A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.7 148065 chr3 151155067 151155067 T C rs139448889 IGSF10 Nonsynonymous SNV I455V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.063 148066 chr11 6550149 6550149 T C rs370946343 DNHD1 Synonymous SNV H715H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 148067 chr11 6559642 6559642 T C rs73407163 DNHD1 Nonsynonymous SNV C1010R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 148068 chr3 15283059 15283059 A C CAPN7 Synonymous SNV A584A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.951 148069 chr3 72957598 72957598 A G rs191393310 GXYLT2 Nonsynonymous SNV N119S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.247 148070 chrX 70888133 70888133 - G LOC101059915 Frameshift insertion A161Gfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 148071 chr10 27408259 27408259 T G rs775827931 YME1L1 Nonsynonymous SNV K478Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 24.9 148072 chr3 155861192 155861192 G A rs141838532 KCNAB1 Synonymous SNV E75E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.3 148073 chr11 6567826 6567826 G A rs147597453 DNHD1 Nonsynonymous SNV R1886Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.06 148074 chr3 158364063 158364063 A G rs779253646 GFM1 Nonsynonymous SNV N115S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.79 148075 chr11 6644149 6644149 C T rs115534913 DCHS1 Nonsynonymous SNV V2920M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.3 148076 chr3 101400052 101400052 G A rs113184191 RPL24 Nonsynonymous SNV T134I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 148077 chr1 248202289 248202289 T C rs72763251 OR2L2 Synonymous SNV C240C 0.007 0.005 0.003 7 8 2 0.018 1 1 0 0 0 0.005 148078 chr11 66512290 66512290 - GGCGGCGGCGGCGGC C11orf80 A34_G35insAAAAA 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 148079 chr10 101090449 101090449 C A rs754407367 CNNM1 Synonymous SNV P435P 0.005 0 0 0 6 0 0 0 0 0 0 0 14.07 148080 chr11 17632885 17632885 G A rs758497287 OTOG Nonsynonymous SNV R2025H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.11 148081 chr11 67264705 67264705 C G rs771327590 PITPNM1 Nonsynonymous SNV E715Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 148082 chr11 67400563 67400563 G A rs140246160 TBX10 Synonymous SNV N187N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.23 148083 chr3 172351331 172351331 G A rs78229953 NCEH1 Synonymous SNV P254P 0 0.01 0.01 2 0 4 0.005 3 0 0 0 0 8.802 148084 chr1 248844902 248844902 G A OR14I1 Nonsynonymous SNV A235V 0 0 0 2 0 0 0.005 0 0 0 0 0 26.3 148085 chr3 178137001 178137001 C T LINC01014 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 148086 chr11 6191346 6191346 T A rs376093697 OR52B2 Nonsynonymous SNV M71L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.5 148087 chr3 112545973 112545973 A G rs750350696 CD200R1L Synonymous SNV T182T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.07 148088 chr11 62415762 62415762 G A rs749822254 INTS5 Nonsynonymous SNV A597V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.543 148089 chr11 62748464 62748464 T G SLC22A6 Nonsynonymous SNV M344L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.274 148090 chr3 184064726 184064726 C T rs368782176 CLCN2 Synonymous SNV K789K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 148091 chr3 119378974 119378974 C T rs139963651 POPDC2 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.885 148092 chr3 121251924 121251924 C T rs41390550 POLQ Synonymous SNV P291P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 14.76 148093 chr10 113920565 113920565 C T rs778035784 GPAM Nonsynonymous SNV R519H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 148094 chr11 73103469 73103469 C T rs775696442 RELT Nonsynonymous SNV T194M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 148095 chr11 63683048 63683048 C T rs143904903 RCOR2 Nonsynonymous SNV V55I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.33 148096 chr11 73717247 73717247 C T rs2229707 UCP3 Nonsynonymous SNV V102I 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 148097 chr11 73718063 73718063 C T rs8179180 UCP3 Nonsynonymous SNV V9M 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 Benign 13.55 148098 chr11 5730793 5730793 G A rs371139090 TRIM22 Nonsynonymous SNV G467E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 148099 chr11 73796760 73796760 C T rs112581232 C2CD3 Synonymous SNV L1271L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 11.21 148100 chr11 64332766 64332766 G A rs141760078 SLC22A11 Nonsynonymous SNV V339M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.289 148101 chr3 122419567 122419567 C T rs768589536 PARP14 Synonymous SNV T722T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 148102 chr3 195597014 195597014 C T rs34189351 TNK2 Nonsynonymous SNV R529Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.1 148103 chr3 196051328 196051328 A C TM4SF19-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.408 148104 chr11 7960518 7960518 C T OR10A3 Nonsynonymous SNV V184I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.91 148105 chr11 82959144 82959144 T A rs750233088 ANKRD42 Nonsynonymous SNV F494L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.177 148106 chr3 36570342 36570342 G T rs144959929 STAC Synonymous SNV G264G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.581 148107 chr3 37096000 37096000 G A rs149817415 LRRFIP2 Nonsynonymous SNV R332W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 148108 chr3 38232328 38232328 G A rs780962712 OXSR1 Nonsynonymous SNV G97E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 148109 chr11 118220583 118220583 A - rs570768621 CD3G K71Nfs*40 0 0.003 0 0 0 1 0 0 0 0 0 0 148110 chr11 118401744 118401744 A T rs145595390 LOC101929089 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.269 148111 chr11 615166 615166 G C IRF7 Synonymous SNV T51T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.126 148112 chr11 615282 615282 A G rs750684733 IRF7 Nonsynonymous SNV S13P 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.011 148113 chr11 6643774 6643774 G A rs775574359 DCHS1 Nonsynonymous SNV R3045C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 148114 chr11 6647173 6647173 G A rs755717552 DCHS1 Nonsynonymous SNV R2237C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 148115 chr10 129877884 129877884 A G rs531320826 PTPRE Synonymous SNV K431K 0.002 0.01 0 7 2 4 0.018 0 0 0 0 0 4.419 148116 chr10 73550066 73550066 A G rs555432123 CDH23 Nonsynonymous SNV N1982S 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 18.82 148117 chr11 67257631 67257631 G A rs202006716 AIP Synonymous SNV E138E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.216 148118 chr10 131565068 131565068 C T rs776229993 MGMT Nonsynonymous SNV P144L 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 33 148119 chr11 89936597 89936601 TGTAA - rs762765272 CHORDC1 0.001 0 0 0 1 0 0 0 0 0 0 0 148120 chr11 11987407 11987407 C T rs893790425 DKK3 Nonsynonymous SNV G260E 0 0.003 0 0 0 1 0 0 0 0 0 0 33 148121 chr11 67821509 67821509 G A rs377195521 CHKA Synonymous SNV Y422Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.47 148122 chr3 42594847 42594847 G C SEC22C Nonsynonymous SNV L269V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 148123 chr10 79589144 79589144 C T rs563750036 DLG5 Synonymous SNV T718T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.41 148124 chr11 68305266 68305266 T C rs548544943 PPP6R3 Nonsynonymous SNV I45T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 148125 chr3 42740569 42740569 G A rs149682326 HHATL Synonymous SNV S81S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 148126 chr10 79744945 79744945 G A POLR3A Synonymous SNV N1075N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.838 148127 chr3 42906941 42906941 G T rs184802180 ACKR2 Nonsynonymous SNV S316I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.98 148128 chr3 42906943 42906943 C T rs189203964 ACKR2 Nonsynonymous SNV H317Y 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.261 148129 chr11 93554483 93554483 C T VSTM5 Nonsynonymous SNV G33D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.3 148130 chr3 4418048 4418048 C T SUMF1 Nonsynonymous SNV R302Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 148131 chr10 88277457 88277457 C A rs10887621 WAPL Nonsynonymous SNV V124F 0.003 0.013 0.007 6 4 5 0.015 2 0 0 0 0 8.929 148132 chr3 151174828 151174828 A G IGSF10 Synonymous SNV L104L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.327 148133 chr3 46728480 46728480 A G rs145807890 ALS2CL Nonsynonymous SNV I176T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.856 148134 chr11 74563049 74563049 C T rs148055073 XRRA1 Nonsynonymous SNV V134M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 29.5 148135 chr3 46795339 46795339 T C rs377626764 PRSS43P 0 0 0.027 0 0 0 0 8 0 0 2 0 0.429 148136 chr3 46795340 46795340 G A rs151101330 PRSS43P 0 0 0.034 0 0 0 0 10 0 0 3 0 2.473 148137 chr11 61897382 61897382 C T rs773254306 INCENP Nonsynonymous SNV A128V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.43 148138 chr3 47049064 47049064 G A NBEAL2 Nonsynonymous SNV G2428R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 148139 chr11 62289348 62289348 C T rs779680610 AHNAK Nonsynonymous SNV G4181S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 148140 chr10 19377103 19377103 C A MALRD1 Nonsynonymous SNV Q196K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 148141 chr10 19435258 19435258 G A rs186270977 MALRD1 Nonsynonymous SNV A515T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.94 148142 chr10 19569053 19569053 A C rs574597600 MALRD1 Nonsynonymous SNV N1053H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 148143 chr11 62543326 62543326 C T rs76769410 TAF6L Nonsynonymous SNV T24M 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 23.2 148144 chr11 125514448 125514448 T C CHEK1 Synonymous SNV F397F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.893 148145 chr11 62747308 62747308 C A SLC22A6 Nonsynonymous SNV V384L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.96 148146 chr12 109281299 109281299 T G rs146917361 DAO Nonsynonymous SNV F90V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.78 148147 chr10 21141489 21141489 G A rs375117092 NEBL Synonymous SNV A331A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.63 148148 chr3 48608375 48608375 G T rs34360255 COL7A1 Synonymous SNV P2397P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 1.383 148149 chr10 99498266 99498266 C T rs112316490 ZFYVE27 Nonsynonymous SNV P11L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.5 148150 chr3 49142142 49142142 G T rs62621067 QARS1 Nonsynonymous SNV L9I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 148151 chr11 63970969 63970969 G A STIP1 Synonymous SNV R525R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 9.967 148152 chr11 6592438 6592438 - TGGGCG DNHD1 G4569_A4570insVG 0 0.003 0 0 0 1 0 0 0 0 0 0 148153 chr3 50381022 50381022 T C rs11550433 ZMYND10 Nonsynonymous SNV N115S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 148154 chr10 29818697 29818697 C T rs144573592 SVIL Nonsynonymous SNV R334H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 148155 chr11 66468141 66468141 T C rs35370566 SPTBN2 Synonymous SNV L1143L 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 Benign/Likely benign 1.614 148156 chr11 6431940 6431940 C T APBB1 Nonsynonymous SNV R213Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 148157 chr11 67287381 67287381 C T rs372607625 CABP2 Nonsynonymous SNV V180M 0 0.005 0 4 0 2 0.01 0 0 0 0 0 19.76 148158 chr10 33000546 33000546 A G rs745902452 CCDC7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.641 148159 chr11 64972298 64972298 A T CAPN1 Nonsynonymous SNV D437V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24 148160 chr3 190575590 190575590 A G rs75848819 GMNC Synonymous SNV C122C 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 6.099 148161 chr11 65088434 65088434 G A rs372684048 CDC42EP2 Nonsynonymous SNV R22Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 148162 chr3 194408538 194408538 G A rs200918957 FAM43A Nonsynonymous SNV G328D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.647 148163 chr3 194790668 194790668 C T rs199782083 XXYLT1 Nonsynonymous SNV D174N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 148164 chr3 195022745 195022745 G A rs756809592 ACAP2 Synonymous SNV A425A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 148165 chr11 18048169 18048169 C T rs368665249 TPH1 Nonsynonymous SNV R224H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.4 148166 chr11 9492936 9492936 G T rs148538480 ZNF143 Synonymous SNV T27T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.707 148167 chr11 95826400 95826400 T C rs149110001 MAML2 Synonymous SNV V265V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.063 148168 chr3 195615414 195615414 C T rs774359188 TNK2 Nonsynonymous SNV E40K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 148169 chr11 102709419 102709419 T A MMP3 Nonsynonymous SNV R364S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 12.19 148170 chr12 122657271 122657271 G A rs7974857 IL31 Synonymous SNV G61G 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 9.707 148171 chr11 6589425 6589425 C T rs137889039 DNHD1 Nonsynonymous SNV P4164L 0.003 0.013 0.003 2 4 5 0.005 1 0 0 0 0 Likely benign 25.7 148172 chr3 196737591 196737591 G A rs148575717 MELTF Synonymous SNV P436P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.68 148173 chr12 123799986 123799986 T C SBNO1 Synonymous SNV A1018A 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 6.238 148174 chr3 9097995 9097995 C T rs992897680 SRGAP3 Synonymous SNV Q349Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.282 148175 chr12 102437959 102437959 G T rs201459333 WASHC3 Nonsynonymous SNV T83K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.01 148176 chr12 124345714 124345714 G A rs764766762 DNAH10 Nonsynonymous SNV R2184Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 148177 chr3 98312105 98312105 G C CPOX Nonsynonymous SNV L82V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 148178 chr3 98518223 98518223 A T rs200752492 DCBLD2 Nonsynonymous SNV I774N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.27 148179 chr11 108122700 108122700 T C rs2235006 ATM Nonsynonymous SNV F582L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign/Likely benign 3.12 148180 chr10 5435934 5435934 G A TUBAL3 Nonsynonymous SNV S256L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.34 148181 chr11 1093219 1093219 A G rs371137719 MUC2 Nonsynonymous SNV T1680A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.916 148182 chr11 1093270 1093270 - CCACGACACC MUC2 Frameshift insertion S1698Tfs*152 0 0 0 1 0 0 0.003 0 0 0 0 0 148183 chr11 1093274 1093274 - ACCACCACCACCACGGTGACCCCAACCCCAATACCCACCGGCACACAGAGTACAACCCT MUC2 Stop gain T1699Pfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 148184 chr11 1093305 1093305 C A rs62637245 MUC2 Synonymous SNV T1708T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.01 148185 chr11 111657225 111657225 C T rs370612060 ALG9 Nonsynonymous SNV A407T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.9 148186 chr4 100470411 100470411 C T rs74445102 TRMT10A Nonsynonymous SNV C285Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 148187 chr2 120925069 120925069 C T rs538183746 EPB41L5 Nonsynonymous SNV R664W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 148188 chr11 76831806 76831806 C T rs782466127 CAPN5 Synonymous SNV A446A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.7 148189 chr4 100572709 100572709 G A rs189476446 C4orf54 Synonymous SNV L1033L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.02 148190 chr10 63810743 63810743 G T rs760053508 ARID5B Nonsynonymous SNV G34V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 31 148191 chr2 128342388 128342388 C T rs369918081 MYO7B Synonymous SNV S530S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 148192 chr2 128379609 128379609 C T rs61745260 MYO7B Nonsynonymous SNV A1167V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 148193 chr11 5757832 5757832 T C rs145028394 OR56B1 Nonsynonymous SNV I29T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.66 148194 chr2 128464013 128464013 C T rs376631566 WDR33 Nonsynonymous SNV G1299S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 148195 chr11 77436641 77436641 G A rs145480178 RSF1 Nonsynonymous SNV P228S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 148196 chr4 104115560 104115560 T C CENPE Nonsynonymous SNV S200G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 148197 chr12 110012690 110012690 - GT MVK Frameshift insertion V23Wfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 148198 chr12 110874376 110874376 T A rs142263970 ARPC3 Nonsynonymous SNV N122I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 148199 chr4 107156503 107156503 G C TBCK Nonsynonymous SNV Q395E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 148200 chr11 31815100 31815100 A G rs764898561 PAX6 Synonymous SNV V105V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.834 148201 chr11 33053036 33053036 A G rs75979055 DEPDC7 Nonsynonymous SNV K299E 0 0.005 0 0 0 2 0 0 0 0 0 0 27.9 148202 chr12 112707610 112707610 C T rs145882492 HECTD4 Nonsynonymous SNV R740Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 148203 chr11 34515113 34515113 A C rs142271255 ELF5 Nonsynonymous SNV C90G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.8 148204 chr4 115769478 115769478 A G rs146949694 NDST4 Synonymous SNV Y611Y 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.023 148205 chr11 85435830 85435830 G C SYTL2 Nonsynonymous SNV S1524C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.058 148206 chr4 7844890 7844890 G A rs73086500 AFAP1 Synonymous SNV C174C 0.009 0.008 0 3 11 3 0.008 0 0 0 0 0 12.61 148207 chr4 119644706 119644706 A C rs770678083 SEC24D Nonsynonymous SNV C1022W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 148208 chr11 118257325 118257325 C T UBE4A Nonsynonymous SNV S862L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 148209 chr11 775100 775100 C T rs368824104 GATD1 Nonsynonymous SNV S36N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.736 148210 chr4 8616160 8616160 C G rs144878756 CPZ Nonsynonymous SNV P469A 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 8.284 148211 chr4 10027528 10027528 C G rs530424219 SLC2A9 Nonsynonymous SNV L21F 0.003 0 0 0 3 0 0 0 0 0 0 0 10.97 148212 chr11 8061197 8061197 C A rs537859744 TUB Nonsynonymous SNV T54K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 148213 chr4 13548720 13548720 T G rs185887776 LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 8.728 148214 chr4 13602838 13602838 C A rs138813999 BOD1L1 Nonsynonymous SNV V1896F 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 17.31 148215 chr12 26784968 26784968 T C ITPR2 Nonsynonymous SNV H922R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.7 148216 chr4 146823962 146823962 A G rs749711580 ZNF827 Nonsynonymous SNV V150A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 148217 chr4 25792184 25792184 T C rs114149293 SEL1L3 Nonsynonymous SNV T622A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.28 148218 chr12 101777344 101777344 C T rs144429729 UTP20 Synonymous SNV L2651L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.264 148219 chr2 171240261 171240261 C T rs769818548 MYO3B Synonymous SNV P409P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.34 148220 chr12 104370723 104370723 T G TDG Nonsynonymous SNV F17L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.89 148221 chr12 106763435 106763435 C T POLR3B Synonymous SNV I68I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.59 148222 chr12 107075845 107075845 C T rs748936687 LOC100505978 0 0.003 0 0 0 1 0 0 0 0 0 0 8.882 148223 chr12 43826110 43826110 G A rs111396063 ADAMTS20 Synonymous SNV S1031S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.04 148224 chr11 64031030 64031030 G A rs145502455 PLCB3 Nonsynonymous SNV V739I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.18 148225 chr12 109678885 109678885 C T rs776234149 ACACB Synonymous SNV I1607I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.18 148226 chr4 174458018 174458018 G C rs1014303551 HAND2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 148227 chr4 177605121 177605121 G A rs373412644 VEGFC Nonsynonymous SNV R407C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 148228 chr4 183714116 183714116 G A rs776630968 TENM3 Synonymous SNV S2097S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.697 148229 chr4 184605197 184605197 T C rs201263451 TRAPPC11 Nonsynonymous SNV V426A 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Uncertain significance 23.6 148230 chr4 184622935 184622935 C T rs200546920 TRAPPC11 Synonymous SNV T979T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.88 148231 chr12 107372459 107372459 - G MTERF2 Frameshift insertion C12Lfs*27 0 0.003 0 0 0 1 0 0 0 0 0 0 148232 chr12 108082253 108082253 G A rs117231086 PWP1 Nonsynonymous SNV R34H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.3 148233 chr12 119943064 119943064 A T rs148886937 CCDC60 Nonsynonymous SNV N280I 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.6 148234 chr4 190599152 190599152 G T rs62331403 LOC105379514 0 0 0.007 0 0 0 0 2 0 0 1 0 3.567 148235 chr4 20711320 20711320 C T PACRGL Nonsynonymous SNV S97L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 148236 chr12 110206778 110206778 G C rs61748987 FAM222A Synonymous SNV P348P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 9.619 148237 chr12 110230597 110230597 C T rs56177950 TRPV4 Nonsynonymous SNV V455I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 19.15 148238 chr12 19422747 19422747 C G PLEKHA5 Nonsynonymous SNV T144R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 148239 chr2 202352367 202352367 - AA rs755990430 C2CD6 Frameshift insertion M614Lfs*25 0.002 0 0 2 2 0 0.005 0 0 0 0 0 148240 chr4 25005156 25005156 C T rs149289586 LGI2 Nonsynonymous SNV D519N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 148241 chr4 2597891 2597891 G T rs745705542 FAM193A Synonymous SNV R55R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 148242 chr4 83423901 83423901 T A rs767334822 TMEM150C Nonsynonymous SNV M72L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 148243 chr4 83763533 83763533 T C rs199615281 SEC31A Nonsynonymous SNV T871A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.518 148244 chr4 3432428 3432428 C T rs762315278 RGS12 Nonsynonymous SNV T639M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 148245 chr12 12288225 12288225 G A rs764130366 LRP6 Nonsynonymous SNV P1206L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 148246 chr12 123444368 123444368 T C ABCB9 Nonsynonymous SNV T139A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.003 148247 chr4 36296601 36296601 T C rs756413588 DTHD1 Nonsynonymous SNV I238T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.367 148248 chr12 117612598 117612598 A G rs752084925 FBXO21 Synonymous SNV A199A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.912 148249 chr12 53901216 53901216 A G rs769162610 NPFF Synonymous SNV L15L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.657 148250 chr12 117691500 117691500 C T rs9658445 NOS1 Nonsynonymous SNV G528D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 19.63 148251 chr12 117768411 117768411 G A rs199870977 NOS1 Nonsynonymous SNV P155L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.143 148252 chr4 89618840 89618840 C T rs761820754 NAP1L5 Synonymous SNV A22A 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 148253 chr11 1051629 1051629 C T LINC02688 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 3.868 148254 chr12 121154697 121154697 A C rs148052068 UNC119B Nonsynonymous SNV K165N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 148255 chr11 105623906 105623906 C T rs146471234 GRIA4 Synonymous SNV Y149Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 148256 chr12 32977079 32977079 C T rs898915439 PKP2 Nonsynonymous SNV G525D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.8 148257 chr11 108004581 108004581 T C rs151080188 ACAT1 Nonsynonymous SNV I52T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.7 148258 chr12 121469307 121469307 C A rs766248806 OASL Nonsynonymous SNV V199L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.4 148259 chr12 57389419 57389419 C T rs754030548 GPR182 Synonymous SNV F142F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 148260 chr12 57424088 57424088 G A rs373373231 MYO1A Nonsynonymous SNV R833W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 148261 chr11 73104927 73104927 T C rs147675855 RELT Nonsynonymous SNV I224T 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 26.7 148262 chr12 57485402 57485402 C T rs752550446 NAB2 Nonsynonymous SNV S193L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 148263 chr12 57598443 57598443 G A rs141307381 LRP1 Nonsynonymous SNV R3702H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 148264 chr12 57865342 57865342 G A rs145582008 GLI1 Nonsynonymous SNV R812H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.67 148265 chr12 48177670 48177670 C T HDAC7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 148266 chr12 132633435 132633435 - CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC NOC4L Frameshift insertion G302Efs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 148267 chr12 132839137 132839137 G A rs782410182 GALNT9 Nonsynonymous SNV S165L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 148268 chr4 57397016 57397016 C G rs192236065 THEGL Synonymous SNV P58P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.03 148269 chr2 220251864 220251864 G A DNPEP Nonsynonymous SNV R28C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.27 148270 chr12 133281251 133281251 A C rs760675418 PXMP2 Nonsynonymous SNV Y189S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 148271 chr12 6425525 6425525 G A rs71584810 PLEKHG6 Synonymous SNV S205S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 8.412 148272 chr12 133372686 133372686 C T rs201422246 GOLGA3 Nonsynonymous SNV D741N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.271 148273 chr12 133697782 133697782 A G rs770952309 ZNF891 Synonymous SNV S241S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.076 148274 chr11 11470398 11470398 G A rs774568853 GALNT18 Synonymous SNV P107P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 148275 chr12 50367285 50367285 G A rs370418802 AQP6 Nonsynonymous SNV G110E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 148276 chr12 66700147 66700147 A G rs142789803 HELB Synonymous SNV T210T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.268 148277 chr12 50754633 50754633 C T rs775102319 FAM186A Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 148278 chr4 68619737 68619737 T C rs104893836 GNRHR Nonsynonymous SNV Q106R 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Pathogenic/Likely pathogenic 23.2 148279 chr11 46898086 46898086 G A rs774023864 LRP4 Nonsynonymous SNV S1156F 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 31 148280 chr11 47185644 47185651 GGTGGTGA - rs749349782 C11orf49 V276Efs*93 0.008 0.01 0 3 9 4 0.008 0 0 0 0 0 148281 chr4 6925654 6925654 C G rs140427960 TBC1D14 Nonsynonymous SNV L180V 0.009 0.005 0.007 2 10 2 0.005 2 0 0 0 0 16.99 148282 chr2 224462623 224462623 C T SCG2 Nonsynonymous SNV E460K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.47 148283 chr12 51685536 51685536 A G rs200757590 BIN2 Synonymous SNV L398L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.044 148284 chr11 47363568 47363568 G A rs747918558 MYBPC3 Synonymous SNV S588S 0.009 0.01 0 3 10 4 0.008 0 0 0 0 0 Likely benign 11.94 148285 chr2 228762987 228762987 C T rs138324444 DAW1 Nonsynonymous SNV T177I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.1 148286 chr11 57427050 57427050 G T rs143977407 CLP1 Nonsynonymous SNV Q34H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.82 148287 chr4 76896942 76896942 T C SDAD1 Nonsynonymous SNV K141R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 148288 chr12 77424061 77424061 G A rs61758459 E2F7 Synonymous SNV D478D 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 Benign 2.67 148289 chr4 141590132 141590132 C T rs766253993 TBC1D9 Synonymous SNV R509R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.26 148290 chr4 78804594 78804594 T C MRPL1 Synonymous SNV F114F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.919 148291 chr2 232663646 232663646 A G rs138197524 COPS7B Nonsynonymous SNV N148S 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 15.91 148292 chr11 587352 587352 A G rs201661078 PHRF1 Nonsynonymous SNV D103G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.2 148293 chr12 89917462 89917462 C T GALNT4, POC1B-GALNT4 Nonsynonymous SNV V289I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.86 148294 chr12 248361 248361 C T rs376678794 IQSEC3 Nonsynonymous SNV S308L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.4 148295 chr4 8847877 8847877 C T rs1013869767 HMX1 Nonsynonymous SNV E190K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 148296 chr12 55523825 55523825 C T rs760136771 OR9K2 Synonymous SNV L91L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 148297 chr4 90035324 90035324 T A TIGD2 Nonsynonymous SNV I400N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 148298 chr11 60689534 60689534 C T rs75070807 TMEM109 Nonsynonymous SNV A210V 0.003 0.013 0.007 3 4 5 0.008 2 0 0 0 0 13.21 148299 chr12 32893005 32893005 C G rs200121892 DNM1L Nonsynonymous SNV S369C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 24.2 148300 chr11 5475509 5475509 T C OR51I2 Nonsynonymous SNV F264S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.2 148301 chr12 49427251 49427268 TGCTGCTGCTGCTGTTGC - KMT2D Q3740_Q3745del 0 0.003 0 0 0 1 0 0 0 0 0 0 148302 chr11 128709312 128709312 A G rs754119178 KCNJ1 Nonsynonymous SNV V295A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 148303 chr12 57114459 57114459 C G rs763477499 NACA Synonymous SNV V285V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.163 148304 chr12 4645209 4645209 T C C12orf4 Nonsynonymous SNV H51R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 148305 chr5 10981921 10981921 A T rs2228958 CTNND2 Synonymous SNV S790S 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 2.965 148306 chr11 62327304 62327304 A C EEF1G Nonsynonymous SNV S387R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 148307 chr11 13443194 13443194 T C rs373611023 BTBD10 Nonsynonymous SNV H50R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 148308 chr12 6436756 6436756 G A rs139084949 PLEKHG6 Synonymous SNV E637E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.723 148309 chr5 118469654 118469654 G A rs182698570 DMXL1 Nonsynonymous SNV E679K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.426 148310 chr5 118728526 118728526 T G TNFAIP8 Nonsynonymous SNV F6C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 148311 chr5 118728612 118728612 G T rs755736608 TNFAIP8 Nonsynonymous SNV D35Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 148312 chr5 127873143 127873143 C A FBN2 Nonsynonymous SNV A52S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.329 148313 chr11 64023944 64023944 G A rs776729629 PLCB3 Synonymous SNV P198P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.46 148314 chr11 64037726 64037726 C G rs139093260 BAD Nonsynonymous SNV W154C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 34 148315 chr13 114622473 114622473 G C rs571777071 LINC00452 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 0.784 148316 chr11 64535641 64535641 A T rs146857529 SF1 Synonymous SNV P220P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.48 148317 chr12 53456452 53456452 C G rs773907528 TNS2 Nonsynonymous SNV T1275R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 148318 chr12 53513030 53513030 G A rs140946531 SOAT2 Synonymous SNV T344T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.79 148319 chr11 64694293 64694293 G A PPP2R5B Synonymous SNV K103K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.03 148320 chr5 135290478 135290478 G A rs148112810 LECT2 Synonymous SNV T15T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.508 148321 chr11 64956204 64956204 C T rs17881532 CAPN1 Synonymous SNV C384C 0.001 0.005 0.007 4 1 2 0.01 2 0 0 0 0 Benign 17.06 148322 chr12 120791153 120791153 C T rs143961492 MSI1 Nonsynonymous SNV A228T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.4 148323 chr11 65386284 65386284 G A rs143245660 PCNX3 Nonsynonymous SNV R484Q 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 21 148324 chr3 12857427 12857427 A G CAND2 Nonsynonymous SNV Q361R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.6 148325 chr3 12858969 12858969 G T rs780816356 CAND2 Synonymous SNV S753S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 6.346 148326 chr3 12875306 12875306 G A rs200379985 CAND2 Nonsynonymous SNV R1062H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 34 148327 chr12 123042029 123042029 C T rs201683456 KNTC1 Synonymous SNV D457D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.562 148328 chr12 123812002 123812002 C T rs538110808 SBNO1 Nonsynonymous SNV V555I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 148329 chr5 140249884 140249884 C T rs62622798 PCDHA11 Nonsynonymous SNV T399I 0.009 0.005 0.014 5 11 2 0.013 4 0 0 0 0 24.5 148330 chr11 66192131 66192131 C T rs148098061 NPAS4 Synonymous SNV A380A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.71 148331 chr13 35770061 35770061 A G rs183652403 NBEA Nonsynonymous SNV D1663G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 148332 chr12 57324050 57324050 C T rs142957654 SDR9C7 Nonsynonymous SNV V174I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.09 148333 chr11 6643629 6643629 C T rs753793379 DCHS1 Nonsynonymous SNV R3093Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 148334 chr13 39266472 39266472 C T rs149779771 FREM2 Nonsynonymous SNV A1664V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 23.5 148335 chr12 53444014 53444014 G A TNS2 Synonymous SNV G15G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.08 148336 chr13 39586311 39586311 G A rs768811525 PROSER1 Nonsynonymous SNV P852L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 148337 chr5 140751231 140751231 G A PCDHGB3 Nonsynonymous SNV A424T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 148338 chr11 67198852 67198852 G A rs185889430 RPS6KB2 Nonsynonymous SNV R108H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 148339 chr5 141026182 141026182 G T rs3749760 FCHSD1 Nonsynonymous SNV N344K 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 13.7 148340 chr11 3704550 3704550 G A rs767130650 NUP98 Nonsynonymous SNV H1553Y 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 148341 chr11 58034696 58034696 A G rs765329391 OR10W1 Nonsynonymous SNV I212T 0.009 0.013 0 3 10 5 0.008 0 0 1 0 0 23.1 148342 chr5 141694117 141694117 C T rs148983803 SPRY4 Nonsynonymous SNV C186Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.4 148343 chr11 68193646 68193646 G A rs924203794 LRP5 Nonsynonymous SNV E629K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.81 148344 chr12 56355503 56355503 C G PMEL Nonsynonymous SNV Q30H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.569 148345 chr11 43465668 43465668 A T rs763358833 TTC17 Nonsynonymous SNV K858N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.51 148346 chr5 54529089 54529089 - GGGCC rs587777499 CCNO Frameshift insertion Q88Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 148347 chr3 38153831 38153831 C T rs367986698 DLEC1 Synonymous SNV Y1218Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.44 148348 chr3 38158122 38158122 G A rs114701641 DLEC1 Synonymous SNV S1348S 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 8.758 148349 chr13 51519581 51519581 G A rs75184679 RNASEH2B Nonsynonymous SNV A177T 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Pathogenic/Likely pathogenic 19.86 148350 chr5 147040112 147040112 T C rs114468800 JAKMIP2-AS1 0 0 0.054 0 0 0 0 16 0 0 0 0 2.02 148351 chr3 38601665 38601665 C T rs41311123 SCN5A Synonymous SNV G1352G 0.001 0.005 0.01 4 1 2 0.01 3 0 0 0 0 Benign/Likely benign 15.88 148352 chr13 101726008 101726008 A T rs778727780 NALCN Synonymous SNV A1346A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.408 148353 chr12 58121780 58121780 G A rs142325283 AGAP2 Synonymous SNV V546V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.089 148354 chr12 6749288 6749288 G C rs148213737 ACRBP Nonsynonymous SNV R455G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.3 148355 chr13 103390543 103390543 T G CCDC168 Synonymous SNV I4168I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.986 148356 chr11 5989233 5989233 T C OR56A5 Nonsynonymous SNV I164M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.141 148357 chr12 13716145 13716145 A T GRIN2B Nonsynonymous SNV S1343T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.944 148358 chr11 47306049 47306049 C T rs151338032 MADD Nonsynonymous SNV P697L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 15.13 148359 chr5 149312067 149312067 T C rs75204652 LOC644762 0 0 0.007 0 0 0 0 2 0 0 0 0 0.462 148360 chr3 41439626 41439626 T C rs768328897 ULK4 Nonsynonymous SNV T906A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 148361 chr11 47744652 47744652 C T rs772666667 FNBP4 Nonsynonymous SNV R896Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.3 148362 chr5 149436930 149436930 C T rs41355444 CSF1R Nonsynonymous SNV G747R 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 Likely benign 8.944 148363 chr5 150028009 150028009 C T rs142079099 SYNPO Nonsynonymous SNV P58S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.945 148364 chr11 724786 724786 G T rs755156774 EPS8L2 Nonsynonymous SNV R506L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 148365 chr11 48149478 48149478 G A rs140746006 PTPRJ Nonsynonymous SNV V414I 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 0.459 148366 chr11 73366882 73366882 G A rs199504982 PLEKHB1 Nonsynonymous SNV R123H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 148367 chr13 111368205 111368205 T - rs749470681 ING1 F139Lfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 148368 chr13 111368207 111368207 T C rs531217733 ING1 Synonymous SNV F139F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.385 148369 chr11 73744862 73744862 G A rs150676400 C2CD3 Nonsynonymous SNV P2115S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 16.78 148370 chr13 111811408 111811408 T C rs977114030 ARHGEF7 Nonsynonymous SNV L96P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 148371 chr3 43122899 43122899 C T rs761633368 POMGNT2 Nonsynonymous SNV A9T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.5 148372 chr5 74491660 74491660 T C rs906032066 ANKRD31 Synonymous SNV A271A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.658 148373 chr14 100615847 100615847 C T rs373221255 DEGS2 Nonsynonymous SNV A95T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7 148374 chr12 69250369 69250369 G A CPM Nonsynonymous SNV L394F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.49 148375 chr12 6935988 6935996 GGAGGACGA - rs138514784 GPR162 D183_E185del 0.007 0.008 0 0 8 3 0 0 0 0 0 0 148376 chr14 102452704 102452704 G A rs532074498 DYNC1H1 Synonymous SNV S714S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.65 148377 chr11 619492 619492 C T rs61732112 CDHR5 Synonymous SNV A425A 0.008 0.018 0.01 2 9 7 0.005 3 0 0 0 0 11.09 148378 chr12 80936635 80936635 A G PTPRQ Nonsynonymous SNV H1111R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.142 148379 chr12 7526126 7526126 T C rs117904047 CD163L1 Nonsynonymous SNV T1184A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.001 148380 chr12 91348392 91348392 G A rs537131134 CCER1 Nonsynonymous SNV P43L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.213 148381 chr13 25744304 25744304 G T rs61754943 AMER2 Nonsynonymous SNV A485E 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 7.736 148382 chr13 26273377 26273377 G A rs35540339 ATP8A2 Nonsynonymous SNV V720M 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 Likely benign 24.4 148383 chr11 8122059 8122059 G A rs75594955 TUB Nonsynonymous SNV V376I 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 27.9 148384 chr12 4600378 4600378 A G C12orf4 Nonsynonymous SNV L272S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.14 148385 chr11 88241649 88241649 T C rs190225432 GRM5-AS1 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 8.273 148386 chr5 176917563 176917563 G A rs529881762 PDLIM7 Nonsynonymous SNV R202C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.82 148387 chr11 93913418 93913418 T C rs202124256 PANX1 Nonsynonymous SNV L399P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 148388 chr11 55322792 55322792 C T rs774055903 OR4C15 Nonsynonymous SNV P283L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 26.8 148389 chr13 46357723 46357723 C T rs774608177 SIAH3 Nonsynonymous SNV R202H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 148390 chr5 179290802 179290802 G A rs145381335 TBC1D9B Synonymous SNV G1116G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.242 148391 chr13 46946495 46946495 G A rs746280233 RUBCNL Nonsynonymous SNV P39L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.72 148392 chr11 6622693 6622693 C T RRP8 Synonymous SNV K201K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.724 148393 chr11 55433001 55433001 G A rs137985207 OR4C6 Nonsynonymous SNV R120H 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 25 148394 chr14 23356015 23356015 G T rs373774017 REM2 Nonsynonymous SNV S307I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 148395 chr13 50204864 50204864 C G rs781514079 ARL11 Nonsynonymous SNV A94G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 148396 chr13 113030748 113030748 T C rs148208558 SPACA7 Nonsynonymous SNV C17R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 148397 chr13 113669154 113669154 C G rs774507822 MCF2L Nonsynonymous SNV L53V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 148398 chr11 55798830 55798830 T C rs140631143 OR5AS1 Synonymous SNV N312N 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 0.069 148399 chr12 53009116 53009116 C T KRT73 Nonsynonymous SNV E224K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 148400 chr13 110435308 110435308 C T rs374646063 IRS2 Synonymous SNV P1031P 0.003 0.008 0.014 3 3 3 0.008 4 0 0 0 0 Benign 7.765 148401 chr14 24568395 24568395 A G rs146890792 PCK2 Nonsynonymous SNV I268V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 25.7 148402 chr3 63601065 63601065 A C rs192674665 SYNPR Nonsynonymous SNV S236R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.037 148403 chr14 24572736 24572736 G A rs547310860 PCK2 Nonsynonymous SNV D362N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 148404 chr5 36301440 36301440 G A rs199744327 RANBP3L Nonsynonymous SNV R27W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 148405 chr13 79939730 79939730 A G RBM26 Nonsynonymous SNV M472T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 148406 chr13 86368449 86368449 C T rs74591375 SLITRK6 Nonsynonymous SNV G732E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.65 148407 chr14 24771254 24771254 C A NOP9 Nonsynonymous SNV H298N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.693 148408 chr13 86368838 86368838 C T rs375333967 SLITRK6 Synonymous SNV T602T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.263 148409 chr14 24877467 24877467 G A rs367849321 NYNRIN Synonymous SNV A197A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.44 148410 chr13 111532112 111532112 C T rs748005008 ANKRD10 Nonsynonymous SNV G379R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 148411 chr5 41195946 41195946 C T C6 Nonsynonymous SNV V179I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 148412 chr3 81548278 81548278 G A rs202158511 GBE1 Nonsynonymous SNV R679C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 26 148413 chr13 114107595 114107595 C T rs200853560 ADPRHL1 Stop gain W53X 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 37 148414 chr13 114188364 114188366 GTC - rs762550813 TMCO3 R285del 0 0.003 0 0 0 1 0 0 0 0 0 0 148415 chr11 71728919 71728919 A G LOC100128494 0.003 0 0 3 3 0 0.008 0 0 0 0 0 4.428 148416 chr11 71906361 71906361 A G rs148345688 FOLR1 Nonsynonymous SNV Q72R 0.005 0.005 0 6 6 2 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.659 148417 chr14 101349931 101349931 C T rs142029300 RTL1 Nonsynonymous SNV E399K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 15.31 148418 chr14 102661345 102661345 A G rs144497853 WDR20 Nonsynonymous SNV N107S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 148419 chr14 102906793 102906793 G A rs200843101 TECPR2 Nonsynonymous SNV E867K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 148420 chr12 112843672 112843672 G A rs372781987 RPL6 Synonymous SNV F233F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.79 148421 chr13 22178272 22178272 C A rs776941228 MICU2 Nonsynonymous SNV G6C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.24 148422 chr3 100566500 100566500 C T rs116508263 ABI3BP Nonsynonymous SNV G468R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.6 148423 chr13 23912547 23912547 C A rs967386746 SACS Nonsynonymous SNV C1676F 0 0.005 0 0 0 2 0 0 0 0 0 0 28 148424 chr3 101572522 101572522 C T NFKBIZ Synonymous SNV A384A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.097 148425 chr13 24823686 24823686 C T rs756140227 SPATA13 Synonymous SNV P575P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.41 148426 chr13 37393571 37393571 C G rs763162669 RFXAP Nonsynonymous SNV P26R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.74 148427 chr12 56536638 56536638 G A rs375779951 ESYT1 Nonsynonymous SNV G980R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 148428 chr5 61661138 61661138 G A rs150906089 KIF2A Synonymous SNV V512V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.24 148429 chr3 108698410 108698410 T A MORC1 Nonsynonymous SNV Q810L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 148430 chr12 11420653 11420841 GGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGT - PRB3 R116_P178del 0 0.003 0 0 0 1 0 0 0 0 0 0 148431 chr14 50318539 50318539 A G rs770739395 NEMF Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.086 148432 chr5 6632867 6632867 G A NSUN2 Synonymous SNV G33G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 148433 chr5 140431327 140431327 A C PCDHB1 Nonsynonymous SNV D91A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 148434 chr11 77412455 77412455 G C rs138660432 RSF1 Nonsynonymous SNV P607A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 17.36 148435 chr14 20471028 20471028 C T rs762777601 OR4Q2 Nonsynonymous SNV L236F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.35 148436 chr13 36878733 36878733 C T rs373841987 SPART Synonymous SNV A590A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.25 148437 chr12 65445188 65445188 G T rs61761621 WIF1 Nonsynonymous SNV P361T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.9 148438 chr13 52342381 52342381 G A rs907638921 DHRS12 Nonsynonymous SNV P299L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.91 148439 chr3 119222830 119222830 G A rs748256251 TIMMDC1 Nonsynonymous SNV R160Q 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 25.9 148440 chr12 6559441 6559441 C G rs373809759 CD27 Nonsynonymous SNV P124R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 4.135 148441 chr3 119531686 119531686 T C NR1I2 Nonsynonymous SNV Y225H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 148442 chr5 79034187 79034187 C T CMYA5 Nonsynonymous SNV A3200V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 148443 chr14 61482656 61482656 A C rs141489194 SLC38A6 Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.454 148444 chr14 62235391 62235392 AA - rs758866144 SNAPC1 E156Gfs*6 0.003 0.005 0 0 3 2 0 0 0 0 0 0 148445 chr5 82136024 82136024 T G rs79512808 MIR3977 0 0 0.003 0 0 0 0 1 0 0 0 0 6.237 148446 chr14 64548193 64548193 T C rs149391344 SYNE2 Synonymous SNV L3793L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 0.026 148447 chr13 46924474 46924474 C T rs149265486 RUBCNL Nonsynonymous SNV R233Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 148448 chr5 89769974 89769974 T A rs142019986 MBLAC2 Nonsynonymous SNV T46S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.1 148449 chr14 64988583 64988583 T C rs1012369488 ZBTB1 Nonsynonymous SNV C121R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.39 148450 chr14 67850131 67850131 G T rs777350688 EIF2S1 Stop gain E308X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 148451 chr14 23745014 23745014 G C rs200974465 HOMEZ Nonsynonymous SNV Q475E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.663 148452 chr11 60701964 60701964 G A rs199507865 TMEM132A Nonsynonymous SNV A523T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 7.748 148453 chr11 60701965 60701965 C A rs200558903 TMEM132A Nonsynonymous SNV A523E 0.004 0 0 3 5 0 0.008 0 0 0 0 0 7.069 148454 chr13 72131218 72131218 T C rs757153138 DACH1 Nonsynonymous SNV K503R 0 0.005 0 0 0 2 0 0 0 0 0 0 19.88 148455 chr14 73407078 73407078 G A rs749413805 DCAF4 Nonsynonymous SNV R15Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.222 148456 chr12 82747054 82747054 T C rs541746155 CCDC59 Nonsynonymous SNV Q201R 0.008 0 0 0 9 0 0 0 0 0 0 0 23.4 148457 chr3 127394876 127394876 C G rs763529022 ABTB1 Nonsynonymous SNV P80R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.243 148458 chr5 156533673 156533673 T C HAVCR2 Nonsynonymous SNV D120G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 148459 chr5 989685 989685 G A rs549535335 LOC100506688 0 0 0.003 0 0 0 0 1 0 0 0 0 3.837 148460 chr11 61498884 61498884 C T rs201836236 DAGLA Synonymous SNV C315C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 148461 chr12 133384547 133384547 C T rs757737771 GOLGA3 Nonsynonymous SNV A370T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.2 148462 chr3 130107816 130107816 G A rs199835289 COL6A5 Nonsynonymous SNV R752Q 0.002 0.003 0 7 2 1 0.018 0 0 0 0 0 24.5 148463 chr6 108882721 108882721 G C rs971768662 FOXO3 Nonsynonymous SNV G104R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 148464 chr6 109480545 109480545 C T rs753485092 CEP57L1 Nonsynonymous SNV P178L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 148465 chr6 109714066 109714066 A C PPIL6 Nonsynonymous SNV M268R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 148466 chr12 9223137 9223137 C T rs753465099 A2M Nonsynonymous SNV V1231I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.35 148467 chr3 130311415 130311415 G A COL6A6 Nonsynonymous SNV E1435K 0 0 0 2 0 0 0.005 0 0 0 0 0 18.81 148468 chr14 105850766 105850766 A G rs782203604 PACS2 Synonymous SNV R619R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.787 148469 chr12 103306579 103306579 C T rs118092776 PAH Nonsynonymous SNV R53H 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 Uncertain significance 26.7 148470 chr14 102786151 102786151 G A rs1001211388 ZNF839 Nonsynonymous SNV G17S 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 148471 chr6 112015646 112015646 A T FYN Nonsynonymous SNV L347H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 148472 chr14 44975393 44975393 T C rs149368576 FSCB Synonymous SNV P266P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.042 148473 chr14 103570344 103570344 G T rs377657513 EXOC3L4 Synonymous SNV P372P 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 0.912 148474 chr12 104350408 104350408 C T rs116995648 C12orf73 0.003 0 0 5 3 0 0.013 0 0 0 0 0 26.7 148475 chr14 45665474 45665474 G A rs139074680 FANCM Nonsynonymous SNV E1788K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.15 148476 chr14 47600951 47600951 A T rs201249340 MDGA2 Nonsynonymous SNV D228E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.7 148477 chr11 63669729 63669729 C T rs755195114 MARK2 Synonymous SNV S387S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 148478 chr6 12121906 12121906 C T rs187187140 HIVEP1 Synonymous SNV G626G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 11.57 148479 chr14 89212552 89212552 T C rs145282623 EML5 Nonsynonymous SNV M145V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.98 148480 chr14 105361127 105361127 G A rs749917796 CEP170B Synonymous SNV P1464P 0 0.005 0 0 0 2 0 0 0 0 0 0 9.579 148481 chr14 105404492 105404492 A G rs778637990 AHNAK2 Nonsynonymous SNV S5666P 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 148482 chr14 105518141 105518141 G A rs143666172 GPR132 Synonymous SNV G102G 0 0.005 0 0 0 2 0 0 0 0 0 0 3.05 148483 chr14 105643046 105643046 C T rs144645678 NUDT14 Nonsynonymous SNV G85R 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.002 148484 chr14 93398717 93398717 C T rs9658662 CHGA Nonsynonymous SNV R120W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.8 148485 chr13 109318373 109318373 C T rs61745206 MYO16 Synonymous SNV R56R 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 10.54 148486 chr6 13228130 13228130 A G rs375774811 PHACTR1 Nonsynonymous SNV M265V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.975 148487 chr6 135254034 135254034 G A rs114000920 ALDH8A1 Synonymous SNV S193S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.397 148488 chr6 135271178 135271178 T C rs56954234 ALDH8A1 Nonsynonymous SNV N5S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.016 148489 chr6 136944063 136944063 A G rs3765258 MAP3K5 Synonymous SNV Y691Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.576 148490 chr14 99927643 99927643 A G rs35026455 SETD3 Synonymous SNV D77D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.522 148491 chr14 61434946 61434946 G T MNAT1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 148492 chr6 142723145 142723145 C T ADGRG6 Nonsynonymous SNV T537I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.221 148493 chr12 113401136 113401136 C T rs763844220 OAS3 Synonymous SNV P701P 0 0 0 3 0 0 0.008 0 0 0 0 0 13.43 148494 chr14 63749908 63749908 G A rs150345688 RHOJ Nonsynonymous SNV E158K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 148495 chr12 117271689 117271689 C T rs376955759 RNFT2 Synonymous SNV D325D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 148496 chr14 24590123 24590123 G A rs746480770 DCAF11 Nonsynonymous SNV R390Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 148497 chr14 24642395 24642395 T C rs117843614 REC8 Nonsynonymous SNV M110T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23 148498 chr6 151626933 151626933 G A rs61755979 AKAP12 Nonsynonymous SNV D72N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 148499 chr12 120152003 120152003 G A rs143040240 CIT Synonymous SNV L1393L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.612 148500 chr11 66331452 66331452 G A rs144556402 CTSF Synonymous SNV S469S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 10.52 148501 chr11 66612999 66612999 C T rs61732910 RCE1 Synonymous SNV F136F 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 16.42 148502 chr11 6662746 6662748 CAG - rs370785084 DCHS1 L33del 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 148503 chr15 31283667 31283667 G A rs200770610 MTMR10 Nonsynonymous SNV L15F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 148504 chr14 23549712 23549712 T C ACIN1 Nonsynonymous SNV R296G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.83 148505 chr14 23884476 23884476 C T rs727504355 MYH7 Nonsynonymous SNV A1763T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Uncertain significance 29 148506 chr14 70038285 70038285 C G rs902362301 CCDC177 Nonsynonymous SNV E685D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22 148507 chr12 49416532 49416532 G A rs766403520 KMT2D Synonymous SNV T5393T 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 12.74 148508 chr14 24113649 24113649 C T rs200846413 DHRS2 Nonsynonymous SNV A191V 0.005 0.01 0 0 6 4 0 0 1 0 0 0 28.2 148509 chr15 33952549 33952549 G A rs201161868 RYR3 Nonsynonymous SNV S1516N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Uncertain significance 21 148510 chr15 34131014 34131014 T C rs201660041 RYR3 Nonsynonymous SNV M4273T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.1 148511 chr6 159653330 159653330 G A rs117860656 FNDC1 Nonsynonymous SNV G596S 0.009 0.01 0.024 1 10 4 0.003 7 0 0 0 0 7.994 148512 chr6 26189274 26189274 G A rs554616183 H4C4 Synonymous SNV L11L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.699 148513 chr14 31353868 31353868 T C rs148156593 LOC100506071 0.001 0.008 0 0 1 3 0 0 0 0 0 0 6.685 148514 chr12 124818975 124818975 G C rs369612880 NCOR2 Synonymous SNV G2190G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.811 148515 chr15 40660512 40660512 G A rs200779278 DISP2 Synonymous SNV P733P 0.003 0.01 0 0 3 4 0 0 0 0 0 0 0.928 148516 chr11 73022439 73022439 G A rs892897422 ARHGEF17 Nonsynonymous SNV R919H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 148517 chr14 36946972 36946972 C T rs8008093 SFTA3 0.003 0.01 0.007 4 3 4 0.01 2 0 0 0 0 0.449 148518 chr15 41166193 41166193 C T rs780683834 RHOV Nonsynonymous SNV V49I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 148519 chr14 38724051 38724051 C T rs112354022 CLEC14A Nonsynonymous SNV D393N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 148520 chr14 39583541 39583541 C T rs768914162 GEMIN2 Nonsynonymous SNV T11I 0 0.005 0 0 0 2 0 0 0 0 0 0 15.86 148521 chr14 39717002 39717002 A G rs17109049 MIA2 Synonymous SNV A408A 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 0.038 148522 chr14 39736693 39736693 G T rs34909359 MIA2 Synonymous SNV P10P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 7.433 148523 chr6 168708983 168708983 G A DACT2 Nonsynonymous SNV A315V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.201 148524 chr12 130846092 130846092 C G PIWIL1 Nonsynonymous SNV A639G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 148525 chr13 45150185 45150185 G A TSC22D1 Nonsynonymous SNV A9V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 148526 chr14 88729823 88729823 G A rs369161307 KCNK10 Nonsynonymous SNV P37L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 148527 chr12 132512781 132512781 C G EP400 Nonsynonymous SNV L1777V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.146 148528 chr13 46549504 46549504 G T rs766060723 ZC3H13 Nonsynonymous SNV D794E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.332 148529 chr15 42955055 42955055 C T rs183802733 STARD9 Synonymous SNV S278S 0.003 0 0 0 4 0 0 0 0 0 0 0 16.98 148530 chr15 42986336 42986336 A G rs149230374 STARD9 Nonsynonymous SNV Q4187R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.954 148531 chr15 43132604 43132604 C G rs200821440 TTBK2 Nonsynonymous SNV G82A 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 26.8 148532 chr15 43622076 43622076 G A LCMT2 Synonymous SNV A204A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.067 148533 chr11 78176991 78176991 G C NARS2 Nonsynonymous SNV F138L 0.002 0 0 0 2 0 0 0 0 0 0 0 27 148534 chr13 61987763 61987763 C T rs376715154 PCDH20 Nonsynonymous SNV G157S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.78 148535 chr6 26199121 26199121 G A rs145059830 H2AC7 Synonymous SNV L117L 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 0.077 148536 chr6 26285632 26285632 C T rs148651672 H4C8 Synonymous SNV K32K 0.004 0 0.003 0 5 0 0 1 0 0 0 0 11.77 148537 chr6 26423591 26423591 C G rs3846842 BTN2A3P 0 0 0.041 0 0 0 0 12 0 0 1 0 4.813 148538 chr6 26444267 26444267 G A rs77474489 BTN3A3 Synonymous SNV P14P 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 7.579 148539 chr6 27326397 27326397 T C rs12212389 ZNF204P 0 0 0.034 0 0 0 0 10 0 0 2 0 2.168 148540 chr6 42074194 42074194 G T rs774179050 C6orf132 Synonymous SNV R486R 0.004 0 0 0 5 0 0 0 0 0 0 0 4.953 148541 chr6 27368365 27368365 C T rs61740694 ZNF391 Synonymous SNV D72D 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 8.337 148542 chr6 28058993 28058993 A G rs60000586 ZSCAN12P1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.291 148543 chr6 28227400 28227400 C T rs73402526 NKAPL Nonsynonymous SNV A84V 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 16.88 148544 chr4 3037244 3037244 T C GRK4 Synonymous SNV C273C 0 0 0 2 0 0 0.005 0 0 0 0 0 0.073 148545 chr15 48786418 48786418 T C rs778951277 FBN1 Nonsynonymous SNV K904R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.8 148546 chr14 74205345 74205345 C T rs146209706 ELMSAN1 Nonsynonymous SNV R456Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.3 148547 chr14 102550887 102550887 T C rs773173897 HSP90AA1 Synonymous SNV E332E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.706 148548 chr14 67854070 67854070 A G rs148717037 PLEK2 Synonymous SNV I346I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.99 148549 chr4 6296790 6296790 T C rs754741776 WFS1 Synonymous SNV D245D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.025 148550 chr12 2614070 2614070 G T rs1051360 CACNA1C Synonymous SNV G392G 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Benign/Likely benign 6.431 148551 chr15 56032665 56032665 C G rs185716584 PRTG Nonsynonymous SNV E104D 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 5.915 148552 chr14 104167035 104167035 A T rs187880905 KLC1 Nonsynonymous SNV Q565L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.407 148553 chr15 56996350 56996350 G A rs76249610 ZNF280D Synonymous SNV G35G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 148554 chr15 57565376 57565376 T C rs10047994 TCF12 Synonymous SNV L372L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.621 148555 chr15 30033639 30033639 T C TJP1 Synonymous SNV E384E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.68 148556 chr12 6806799 6806799 G A rs144462126 PIANP Synonymous SNV C59C 0.013 0.013 0.014 4 15 5 0.01 4 0 0 0 0 10.85 148557 chr15 34042484 34042484 C T rs776207635 RYR3 Nonsynonymous SNV S2799F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 148558 chr15 34537940 34537940 C T rs779664776 SLC12A6 Nonsynonymous SNV R578K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 148559 chr12 6952532 6952532 C T rs781925945 GNB3 Synonymous SNV H91H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.57 148560 chr15 38228595 38228595 C T rs138045481 TMCO5A Nonsynonymous SNV T24M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 148561 chr6 51776608 51776608 T C rs577306911 PKHD1 Nonsynonymous SNV N2160S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 0.005 148562 chr4 16507591 16507591 G A LDB2 Synonymous SNV I302I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.86 148563 chr12 7045900 7045900 - CAGCAG ATN1 Q502_H503insQQ 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 148564 chr12 101723219 101723219 C T rs941358128 UTP20 Stop gain R1137X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 148565 chr12 42839891 42839899 GCAGCCCCT - rs765182290 PPHLN1 L291_P293del 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 148566 chr6 41100188 41100188 C T rs999720542 ADCY10P1 0 0 0.007 0 0 0 0 2 0 0 0 0 17.2 148567 chr14 81329182 81329182 C T rs183495485 CEP128 Synonymous SNV L227L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.736 148568 chr6 42695547 42695547 A G rs116799478 ATP6V0CP3 0 0 0.031 0 0 0 0 9 0 0 0 0 11.96 148569 chr12 80632742 80632742 G A rs186616540 OTOGL Nonsynonymous SNV G301E 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Benign/Likely benign 13.99 148570 chr12 109536350 109536350 G C rs144083363 UNG Synonymous SNV L73L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 11.15 148571 chr6 43639632 43639632 C A rs544410027 MRPS18A Nonsynonymous SNV R153L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 34 148572 chr15 74751146 74751146 A T rs972157953 UBL7 Synonymous SNV S21S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.382 148573 chr12 49463515 49463515 A G rs754259262 RHEBL1 0 0 0 1 0 0 0.003 0 0 0 0 0 19.62 148574 chr15 42185151 42185151 G A rs62002144 SPTBN5 Nonsynonymous SNV R109C 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 Benign 27.2 148575 chr12 86199370 86199370 A G RASSF9 Synonymous SNV L140L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 0.002 148576 chr12 109884973 109884973 C T rs202148514 MYO1H Nonsynonymous SNV R1019W 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 148577 chr4 42119596 42119596 T C BEND4 Nonsynonymous SNV D515G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 148578 chr15 78390794 78390794 C A rs200058929 SH2D7 Nonsynonymous SNV N167K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 148579 chr15 101109843 101109843 C A LINS1 Nonsynonymous SNV S625I 0 0.003 0 0 0 1 0 0 0 0 0 0 31 148580 chr15 42641659 42641659 A C GANC Nonsynonymous SNV K833Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 148581 chr15 43028912 43028912 G A rs186189866 CDAN1 Synonymous SNV L53L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.13 148582 chr15 43029292 43029292 G C rs760270139 CDAN1 Synonymous SNV A3A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.88 148583 chr6 79708109 79708109 C T PHIP 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 148584 chr15 78764222 78764222 A G IREB2 Nonsynonymous SNV D30G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 148585 chr6 46988218 46988218 C T rs183311428 ADGRF1 Synonymous SNV S209S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.097 148586 chr15 101455014 101455014 G T rs746020355 LOC101927751 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 4.569 148587 chr15 101455015 101455015 C T rs534972477 LOC101927751 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.85 148588 chr4 53611595 53611595 A G rs933997203 ERVMER34-1 Synonymous SNV V31V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.07 148589 chr6 89890146 89890146 G A rs185458142 GABRR1 Synonymous SNV R320R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.645 148590 chr12 94072701 94072701 C A rs4332566 CRADD Nonsynonymous SNV L51I 0.011 0.008 0.003 0 13 3 0 1 0 0 0 0 Likely benign 22.4 148591 chr12 112590260 112590260 G A rs372720878 TRAFD1 Nonsynonymous SNV R550Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24 148592 chr12 112673510 112673510 C T rs370070964 HECTD4 Synonymous SNV P1851P 0.003 0 0 0 3 0 0 0 0 0 0 0 16.62 148593 chr6 51720792 51720792 G A rs201091083 PKHD1 Nonsynonymous SNV R2604C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 148594 chr15 31197300 31197300 G A rs146408181 FAN1 Nonsynonymous SNV R145H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.287 148595 chr15 33261673 33261673 C T rs758646607 FMN1 Synonymous SNV Q520Q 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 8.197 148596 chr6 106553314 106553314 G A rs146539196 PRDM1 Nonsynonymous SNV A293T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 148597 chr12 52960836 52960836 T C rs80347085 KRT74 Nonsynonymous SNV T503A 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 0.2 148598 chr12 119568489 119568489 C T rs763996258 SRRM4 Synonymous SNV R207R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 148599 chr14 31592221 31592221 A G rs781754903 HECTD1 Synonymous SNV L1672L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.45 148600 chr12 120112229 120112229 G C rs139810340 PRKAB1 Nonsynonymous SNV V168L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 19.67 148601 chr6 109274426 109274426 C T rs371614341 ARMC2 Nonsynonymous SNV P431L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.589 148602 chr15 55912411 55912411 T C PRTG Synonymous SNV V1084V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.732 148603 chr14 38260043 38260043 G A rs190840295 TTC6 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.9 148604 chr12 121881851 121881851 T G KDM2B Nonsynonymous SNV K774N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 148605 chr13 110814708 110814708 T G COL4A1 Nonsynonymous SNV H1444P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 148606 chr12 122252625 122252625 C T rs764113442 SETD1B Nonsynonymous SNV P835L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.1 148607 chr15 89858594 89858594 G A rs780404413 FANCI Nonsynonymous SNV E1240K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 148608 chr6 117073849 117073849 G A rs201342470 FAM162B Stop gain R134X 0.003 0 0 0 3 0 0 0 0 0 0 0 38 148609 chr15 90167382 90167382 G C rs149503501 TICRR Nonsynonymous SNV A1280P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.175 148610 chr15 41102393 41102393 A G rs199850216 ZFYVE19 Synonymous SNV L232L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.924 148611 chr12 123829834 123829834 T C rs756759132 SBNO1 Nonsynonymous SNV N174S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.309 148612 chr12 55688894 55688894 T G rs117851256 OR6C6 Nonsynonymous SNV L41F 0.005 0.01 0.007 6 6 4 0.015 2 0 0 0 0 3.321 148613 chr15 41687216 41687216 G A rs760503506 NDUFAF1 Synonymous SNV Y200Y 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 1.848 148614 chr15 65350775 65350775 C T rs752829078 RASL12 Nonsynonymous SNV A120T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 148615 chr15 41865914 41865914 G A rs375666537 TYRO3 Nonsynonymous SNV R683H 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 35 148616 chr15 40912887 40912887 C T KNL1 Nonsynonymous SNV T142I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.1 148617 chr15 67664936 67664936 G A rs781051273 IQCH Nonsynonymous SNV R162Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 148618 chr6 129724973 129724973 G C rs771682107 LAMA2 Nonsynonymous SNV D1912H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 148619 chr13 20579253 20579253 G A rs115819790 ZMYM2 Synonymous SNV V391V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.45 148620 chr13 20763612 20763612 C T rs72474224 GJB2 Nonsynonymous SNV V37I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Pathogenic 10.55 148621 chr13 21165807 21165807 A G rs73431345 IFT88 Synonymous SNV K86K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 4.767 148622 chr15 42453950 42453950 G A VPS39 Nonsynonymous SNV H828Y 0.001 0.01 0 0 1 4 0 0 0 0 0 0 14.88 148623 chr13 21557379 21557379 G C rs139454181 LATS2 Synonymous SNV S822S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.517 148624 chr15 69682027 69682027 G A rs113739745 PAQR5 Synonymous SNV P140P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.099 148625 chr15 69714708 69714708 A C rs61750336 KIF23 Nonsynonymous SNV E56A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 148626 chr15 41961191 41961191 T C rs199585187 MGA Synonymous SNV N33N 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 0.083 148627 chr15 69728976 69728976 T C rs61750334 KIF23 Synonymous SNV D380D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 7.826 148628 chr6 99848669 99848669 G A rs765572340 PNISR Nonsynonymous SNV S704F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 148629 chr15 42974474 42974474 G A rs570324067 STARD9 Synonymous SNV V746V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.505 148630 chr15 94841725 94841725 G A rs139543198 MCTP2 Synonymous SNV S77S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.99 148631 chr15 72513612 72513612 T A rs147562047 PKM Nonsynonymous SNV T36S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.48 148632 chr12 132323250 132323250 C G rs4964883 MMP17 Nonsynonymous SNV A129G 0.011 0.021 0.003 3 13 8 0.008 1 0 0 0 0 6.619 148633 chr14 58895082 58895082 G A rs186659284 KIAA0586 Nonsynonymous SNV V34I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.764 148634 chr12 132403843 132403843 C T rs139618532 ULK1 Synonymous SNV S866S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 148635 chr6 138752066 138752066 G A rs190067093 NHSL1 Nonsynonymous SNV P1143L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.909 148636 chr15 74625078 74625078 G A rs200661258 CCDC33 Synonymous SNV P203P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.056 148637 chr14 59835368 59835368 C G DAAM1 Nonsynonymous SNV L1000V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.3 148638 chr12 132628824 132628824 G T rs144500790 DDX51 Synonymous SNV V6V 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 9.315 148639 chr16 11114174 11114174 A G rs61741309 CLEC16A Synonymous SNV Q458Q 0.001 0.005 0.007 0 1 2 0 2 0 0 1 0 0.298 148640 chr16 11260381 11260381 C T rs199845254 CLEC16A Synonymous SNV S926S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.887 148641 chr16 11272435 11272435 G A rs199877880 CLEC16A Nonsynonymous SNV S1017N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.52 148642 chr16 1129447 1129447 C T rs368327024 SSTR5 Synonymous SNV P193P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.528 148643 chr15 48060810 48060810 A T rs144270010 SEMA6D Nonsynonymous SNV M581L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.544 148644 chr16 11369938 11369938 G A rs74007625 PRM2 Nonsynonymous SNV P97L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.534 148645 chr16 11369947 11369947 G A rs74007626 PRM2 Nonsynonymous SNV A94V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 1.219 148646 chr12 133446245 133446245 C T rs75391939 CHFR Synonymous SNV T193T 0.014 0.01 0.003 8 17 4 0.021 1 0 0 0 0 12 148647 chr6 146126606 146126606 T C rs41285849 FBXO30 Synonymous SNV L312L 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 0.003 148648 chr16 1401416 1401416 C T rs1015532182 TSR3 Nonsynonymous SNV S99N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 148649 chr14 68052703 68052703 A G rs918089356 PLEKHH1 Synonymous SNV T1274T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.844 148650 chr15 83240131 83240131 C G CPEB1 Nonsynonymous SNV Q39H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.92 148651 chr4 113545005 113545005 A G rs145179270 ZGRF1 Nonsynonymous SNV C44R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 148652 chr16 16257030 16257030 G A rs758648156 ABCC6 Nonsynonymous SNV S1109L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 148653 chr15 57730404 57730404 T C rs2934441 CGNL1 Synonymous SNV F69F 0.008 0.018 0.007 3 9 7 0.008 2 0 0 0 0 0.005 148654 chr4 114288808 114288808 G A rs199549660 ANK2 Nonsynonymous SNV D798N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 148655 chr13 46119042 46119042 G A ERICH6B Synonymous SNV N575N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.986 148656 chr16 17202776 17202776 C A rs143481827 XYLT1 Nonsynonymous SNV A886S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 17.85 148657 chr6 152712429 152712429 G A rs770461993 SYNE1 Nonsynonymous SNV R2670W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 148658 chr6 155469341 155469341 G A rs138017039 TIAM2 Nonsynonymous SNV R634Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 148659 chr15 64506171 64506171 G C rs377360552 CSNK1G1 Synonymous SNV T199T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.577 148660 chr12 3104139 3104139 G T TEAD4 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.824 148661 chr12 31743701 31743701 C G DENND5B Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 148662 chr12 8290846 8290846 A C rs200877311 CLEC4A Nonsynonymous SNV Q154P 0 0 0 1 0 0 0.003 0 0 0 0 0 19.53 148663 chr16 20693741 20693741 T C ACSM1 Nonsynonymous SNV I150V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 148664 chr16 2256565 2256565 C T rs776211161 MLST8 Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 148665 chr16 2259615 2259615 C T rs144177469 BRICD5 Synonymous SNV A177A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 14.33 148666 chr15 67677358 67677358 G C rs369043506 IQCH 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.7 148667 chr16 23379257 23379257 C T rs142531781 SCNN1B Nonsynonymous SNV S286L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 148668 chr4 154626301 154626301 C T rs557333891 TLR2 Nonsynonymous SNV R748C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 32 148669 chr12 9349217 9349217 C G rs747161093 PZP Nonsynonymous SNV G311A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.11 148670 chr4 155243603 155243603 A G rs75387086 DCHS2 Synonymous SNV N1352N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.043 148671 chr4 155254558 155254558 G A rs28607083 DCHS2 Synonymous SNV T934T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.26 148672 chr15 69747556 69747556 C T rs78395337 RPLP1 Synonymous SNV A40A 0.009 0.01 0 1 10 4 0.003 0 0 0 0 0 19.88 148673 chr12 97052033 97052033 A G CFAP54 Nonsynonymous SNV Q1790R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.7 148674 chr16 28074523 28074523 - GGC rs774383877 GSG1L A74_T75insA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 148675 chr16 2818182 2818182 G C rs149616150 SRRM2 Synonymous SNV S2551S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.063 148676 chr16 28506429 28506429 G A rs577322366 APOBR Nonsynonymous SNV G23S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 148677 chr12 98909893 98909893 C T rs730880228 TMPO Nonsynonymous SNV A83V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 16.13 148678 chr16 29676235 29676235 G A rs777920495 SPN Nonsynonymous SNV D396N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 148679 chr15 74241896 74241896 A G rs143555452 LOXL1 Nonsynonymous SNV T567A 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 24.5 148680 chr16 30002431 30002431 C T rs74017652 TAOK2 Nonsynonymous SNV R898W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.99 148681 chr15 78293974 78293974 T C rs773860917 TBC1D2B Nonsynonymous SNV I895V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.232 148682 chr14 95569761 95569761 C T rs45562437 DICER1 Synonymous SNV K1324K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.1 148683 chr16 12497316 12497316 C T rs751174952 SNX29 Nonsynonymous SNV A656V 0.001 0 0 0 1 0 0 0 0 0 0 0 35 148684 chr7 810190 810190 C T rs754316026 DNAAF5 Synonymous SNV R622R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 148685 chr4 170506525 170506525 C T rs200161705 NEK1 Nonsynonymous SNV R261H 0.009 0.013 0 5 11 5 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 148686 chr7 943844 943844 G A rs150403059 ADAP1 Synonymous SNV I94I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 148687 chr14 99724021 99724021 C G BCL11B Nonsynonymous SNV V71L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.81 148688 chr14 99865281 99865281 A C SETD3 Nonsynonymous SNV L507R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.4 148689 chr16 135414 135414 G A rs145824088 MPG Nonsynonymous SNV V174I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.21 148690 chr4 175897246 175897246 T C rs78941066 ADAM29 Synonymous SNV Y190Y 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 0.002 148691 chr16 1493922 1493922 G C CCDC154 Synonymous SNV G33G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.197 148692 chr16 31519626 31519626 G - rs772962613 C16orf58 C24Afs*87 0.001 0.005 0 0 1 2 0 0 0 0 0 0 148693 chr16 336413 336413 G A rs200448607 PDIA2 Nonsynonymous SNV V394M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 148694 chr16 3532514 3532514 C G NAA60 Nonsynonymous SNV L20V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 148695 chr16 15814717 15814717 C T rs11648119 MYH11 Synonymous SNV K1590K 0.013 0.008 0 5 15 3 0.013 0 0 0 0 0 Benign/Likely benign 9.879 148696 chr16 3832781 3832781 T C CREBBP Nonsynonymous SNV M455V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.035 148697 chr14 20851422 20851422 G T rs140474592 TEP1 Nonsynonymous SNV P1212T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 148698 chr16 1706623 1706623 G T CRAMP1 Nonsynonymous SNV G622V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 148699 chr15 30011237 30011237 G A rs752729423 TJP1 Synonymous SNV L957L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.321 148700 chr12 53189619 53189619 C T rs150657845 KRT3 Nonsynonymous SNV V70M 0.002 0 0 0 2 0 0 0 0 0 0 0 16.69 148701 chr13 114774863 114774863 G A rs765321957 RASA3 Synonymous SNV N524N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.081 148702 chr12 53225274 53225274 G A rs149430221 KRT79 Nonsynonymous SNV T205M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 148703 chr15 33359745 33359745 G A rs112533728 FMN1 Nonsynonymous SNV T114I 0.005 0 0 1 6 0 0.003 0 1 0 0 0 2.707 148704 chr16 46773973 46773973 C T rs777129890 MYLK3 Synonymous SNV G188G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.32 148705 chr16 47156800 47156800 C T NETO2 Nonsynonymous SNV D169N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 148706 chr7 17908105 17908105 A C rs113875899 SNX13 Synonymous SNV L254L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.684 148707 chr15 38228620 38228620 G T rs149517482 TMCO5A Nonsynonymous SNV Q32H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 20.7 148708 chr16 20952796 20952796 T A rs146546671 DNAH3 Nonsynonymous SNV M3815L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.39 148709 chr16 49672688 49672688 G A rs140519104 ZNF423 Synonymous SNV L8L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.65 148710 chr16 105863 105863 G A rs138930817 SNRNP25 Nonsynonymous SNV G74S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.97 148711 chr13 28009303 28009303 C T rs749883779 GTF3A Nonsynonymous SNV P303S 0 0 0 1 0 0 0.003 0 0 0 0 0 29 148712 chr16 2235131 2235131 G A rs758448278 CASKIN1 Nonsynonymous SNV A407V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 148713 chr16 2260257 2260257 G A rs141543452 BRICD5 Nonsynonymous SNV T69I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.1 148714 chr16 2328949 2328949 C T rs147658887 ABCA3 Synonymous SNV T1514T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.14 148715 chr14 23744781 23744784 CACT - rs541083886 HOMEZ *551delinsWGAGGGEVCY* 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 148716 chr7 26778483 26778483 C T SKAP2 Nonsynonymous SNV G134R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 148717 chr16 2367387 2367387 G C rs142260648 ABCA3 Synonymous SNV A336A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.037 148718 chr16 23767741 23767741 G - rs772792474 CHP2 K130Rfs*13 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 148719 chr16 11773095 11773095 C T rs774992096 TXNDC11 Nonsynonymous SNV A493T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.858 148720 chr16 26147454 26147454 G T rs9930821 HS3ST4 Nonsynonymous SNV R419L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 25.1 148721 chr14 24035071 24035071 G A rs143609508 AP1G2 Nonsynonymous SNV T128M 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 23 148722 chr16 27460303 27460303 G A rs199542730 IL21R Nonsynonymous SNV G439E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.56 148723 chr15 42342873 42342873 G A PLA2G4E Nonsynonymous SNV P10L 0.004 0 0 0 5 0 0 0 0 0 0 0 3.597 148724 chr5 32089764 32089764 G A rs149758462 PDZD2 Synonymous SNV P2070P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.34 148725 chr5 32234040 32234040 C A MTMR12 Nonsynonymous SNV G505C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 148726 chr13 39263749 39263749 C T FREM2 Synonymous SNV A756A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.97 148727 chr16 67029603 67029603 G A rs144460906 CES4A Nonsynonymous SNV G44E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.001 148728 chr14 29236691 29236691 - GCA rs398124201 FOXG1 Q73_P74insQ 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 148729 chr16 68597455 68597455 A G rs199759414 ZFP90 Synonymous SNV E255E 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.2 148730 chr16 16110406 16110406 C T rs373589044 ABCC1 Synonymous SNV L181L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.44 148731 chr16 69419765 69419765 - CGCCCTCCC rs748694795 TERF2 G36_A37insGEG 0.001 0 0 0 1 0 0 0 0 0 0 0 148732 chr12 58158181 58158181 C T rs199575147 CYP27B1 Synonymous SNV A372A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.17 148733 chr16 31341664 31341664 T C rs751819453 ITGAM Synonymous SNV C1032C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.752 148734 chr16 31382412 31382412 C T rs148255116 ITGAX Nonsynonymous SNV A573V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 148735 chr12 58347463 58347463 A C rs897579315 ATP23 Nonsynonymous SNV Q58H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.94 148736 chr16 31391381 31391381 G A rs142434946 ITGAX Nonsynonymous SNV V1019M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 148737 chr16 31418867 31418867 C T rs147321998 ITGAD Stop gain R246X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 148738 chr16 31471129 31471129 C T ARMC5 Nonsynonymous SNV S95L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 148739 chr7 20762786 20762786 G A rs80123476 ABCB5 Nonsynonymous SNV A412T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 148740 chr16 19452068 19452068 C T rs192120229 TMC5 Synonymous SNV S236S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.648 148741 chr5 43161414 43161414 G A rs202156596 ZNF131 Synonymous SNV R145R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.513 148742 chr16 3339601 3339601 A C rs376586511 ZNF263 Nonsynonymous SNV E365D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 148743 chr12 64746810 64746810 A T rs974502850 C12orf56 Nonsynonymous SNV S93R 0.003 0 0 0 4 0 0 0 0 0 0 0 9.843 148744 chr16 75200691 75200691 G A rs201833464 ZFP1 Synonymous SNV V13V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.75 148745 chr14 51379783 51379783 A G rs145645789 PYGL Synonymous SNV D494D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.39 148746 chr16 22278046 22278046 G A rs370102420 EEF2K Nonsynonymous SNV R538H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 148747 chr16 461483 461483 G C rs146760080 DECR2 Nonsynonymous SNV G262R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 148748 chr16 17202757 17202757 C T rs35309694 XYLT1 Nonsynonymous SNV R892Q 0.005 0.005 0.017 3 6 2 0.008 5 0 0 0 0 17.55 148749 chr7 26578312 26578316 AAAAT - rs545352159 KIAA0087, LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 148750 chr7 2752486 2752486 C T rs201142649 AMZ1 Nonsynonymous SNV R491C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.325 148751 chr16 48234211 48234211 G T ABCC11 Synonymous SNV V686V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.989 148752 chr14 53529903 53529903 T C rs138906273 DDHD1 Synonymous SNV Q508Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 0.517 148753 chr5 70308643 70308643 A G rs141020129 NAIP Synonymous SNV L34L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.566 148754 chr16 4940228 4940228 G C rs370362845 PPL Nonsynonymous SNV T757R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 148755 chr16 2522432 2522432 T G rs149915043 NTN3 Nonsynonymous SNV Y244D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.1 148756 chr16 2817327 2817327 G A rs756452581 SRRM2 Synonymous SNV A2266A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.573 148757 chr12 80604647 80604647 A G rs117411391 OTOGL Nonsynonymous SNV I25V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 148758 chr14 59931543 59931543 G T GPR135 Synonymous SNV L134L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.291 148759 chr7 74482536 74482536 C T rs372749501 RCC1L Nonsynonymous SNV R175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 148760 chr7 37923917 37923917 G A rs62001869 NME8 Nonsynonymous SNV R336H 0.003 0.005 0.01 5 4 2 0.013 3 0 0 0 0 Benign 6.078 148761 chr7 38725682 38725682 G A rs60277655 FAM183BP 0 0 0.017 0 0 0 0 5 0 0 0 0 4.354 148762 chr5 74921727 74921727 G A rs115046757 ANKDD1B Nonsynonymous SNV V183M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.79 148763 chr14 61788825 61788825 G T rs761952246 PRKCH Synonymous SNV S2S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.84 148764 chr16 30762461 30762461 C A PHKG2 Synonymous SNV R44R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 148765 chr16 30776296 30776296 C T rs772520210 RNF40 Synonymous SNV H229H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 148766 chr16 2141570 2141570 G A rs746316553 PKD1 Nonsynonymous SNV R3855C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 31 148767 chr16 57394414 57394414 C T rs373449210 CCL22 Synonymous SNV L47L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.784 148768 chr14 103969407 103969407 A G rs138666464 MARK3 Nonsynonymous SNV H662R 0.002 0 0 4 2 0 0.01 0 0 0 0 0 20.7 148769 chr14 104026965 104026965 T C BAG5 Synonymous SNV A179A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.013 148770 chr5 76932881 76932881 G A rs185198254 OTP Nonsynonymous SNV A71V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 148771 chr14 65009222 65009222 T G rs758029974 HSPA2 Nonsynonymous SNV I552S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 148772 chr16 2347517 2347517 G A ABCA3 Synonymous SNV T692T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.458 148773 chr16 31336718 31336718 C T rs370481306 ITGAM Nonsynonymous SNV T833M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 148774 chr16 58538272 58538272 C T NDRG4 Synonymous SNV F104F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.72 148775 chr16 31424521 31424521 C T rs145551627 ITGAD Synonymous SNV D651D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.926 148776 chr14 67862242 67862242 C T rs141972325 PLEK2 Nonsynonymous SNV R89Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 148777 chr16 597924 597924 C T rs149502771 CAPN15 Synonymous SNV A362A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.374 148778 chr12 95461156 95461156 G A NR2C1 Nonsynonymous SNV A2V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 27.4 148779 chr16 602467 602467 G A rs746420492 CAPN15 Nonsynonymous SNV A892T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 148780 chr14 70263773 70263773 T C rs748188887 SLC10A1 Nonsynonymous SNV M34V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 148781 chr7 47852885 47852885 T C rs138441246 PKD1L1 Nonsynonymous SNV R2394G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Likely benign 0.549 148782 chr16 67320372 67320372 C T rs138199982 PLEKHG4 Nonsynonymous SNV H772Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 148783 chr7 94058560 94058560 C T rs766273613 COL1A2 Nonsynonymous SNV R1258C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 148784 chr16 88788282 88788282 C A rs375856338 PIEZO1 Synonymous SNV L1716L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 15.52 148785 chr16 68265239 68265239 G A rs3743738 ESRP2 Nonsynonymous SNV A528V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.27 148786 chr7 4823919 4823919 A G AP5Z1 Nonsynonymous SNV Q80R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 148787 chr14 75376793 75376793 G C rs144227714 RPS6KL1 Nonsynonymous SNV S241R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.071 148788 chr7 99754027 99754027 G T MAP11 Nonsynonymous SNV P139T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 148789 chr16 29816476 29816476 A G KIF22 Nonsynonymous SNV Q576R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.184 148790 chr16 71317921 71317921 G A rs141839766 CMTR2 Nonsynonymous SNV R635W 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 23.8 148791 chr14 76525674 76525674 C T rs547721035 IFT43 Nonsynonymous SNV R85C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 148792 chr16 71692602 71692602 T C rs139813458 PHLPP2 Nonsynonymous SNV N634S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.5 148793 chr14 21270407 21270407 C T rs557807105 RNASE1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.93 148794 chr16 48381516 48381516 C T rs768589313 LONP2 Synonymous SNV G635G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.5 148795 chr16 3107059 3107059 C T rs141837567 MMP25 Synonymous SNV A229A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 148796 chr16 74530390 74530390 G A rs143259113 GLG1 Synonymous SNV D298D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.84 148797 chr7 6054782 6054782 G A rs766098337 AIMP2 Synonymous SNV E7E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 148798 chr7 6075472 6075472 C A ANKRD61 Nonsynonymous SNV P238T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 148799 chr5 101631817 101631817 C G rs760267627 SLCO4C1 Nonsynonymous SNV Q50H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 148800 chr16 75669879 75669879 C T rs143003475 KARS1 Synonymous SNV P200P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 148801 chr14 88936015 88936015 G A PTPN21 Synonymous SNV V1021V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.41 148802 chr5 111481652 111481652 T C rs749073602 EPB41L4A Nonsynonymous SNV N659S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.118 148803 chr14 92469886 92469886 T C rs201733332 TRIP11 Synonymous SNV E1477E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.008 148804 chr7 73245574 73245574 G A rs146345112 CLDN4 Nonsynonymous SNV V15I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 148805 chr16 81219137 81219137 G C rs756771317 PKD1L2 Nonsynonymous SNV L653V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.428 148806 chr7 7571257 7571257 A G rs75456776 COL28A1 Nonsynonymous SNV Y135H 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 26 148807 chr17 16365657 16365657 C T rs753525286 LRRC75A Nonsynonymous SNV R97H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 34 148808 chr16 3779870 3779870 G A rs752909743 CREBBP Synonymous SNV Y1688Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.498 148809 chr16 81348775 81348775 G A rs767263153 GAN Synonymous SNV A19A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.62 148810 chr16 81691391 81691391 G C CMIP Nonsynonymous SNV L123F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 148811 chr16 58568118 58568118 A G CNOT1 Nonsynonymous SNV I1938T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 148812 chr13 25034161 25034161 G A rs34385526 PARP4 Synonymous SNV P749P 0.003 0 0.007 1 3 0 0.003 2 0 0 1 0 8.891 148813 chr14 95056471 95056471 G A rs141881639 SERPINA5 Nonsynonymous SNV R238H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.192 148814 chr14 95584087 95584087 T C rs141163928 DICER1 Nonsynonymous SNV I461V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 148815 chr17 1783903 1783903 G C RPA1 Nonsynonymous SNV G374R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 148816 chr14 24842912 24842912 C T rs778408359 NFATC4 Nonsynonymous SNV A524V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 148817 chr16 66975712 66975712 G A rs140590822 CES2 Synonymous SNV E366E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 1.148 148818 chr17 18145579 18145579 C T rs138322162 LLGL1 Synonymous SNV H994H 0.006 0.01 0 3 7 4 0.008 0 0 0 0 0 12.12 148819 chr7 92098266 92098266 G A rs141340741 ERVW-1 Nonsynonymous SNV S477F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 20.3 148820 chr16 4911086 4911086 G A rs755558783 UBN1 Nonsynonymous SNV V365I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.55 148821 chr16 4934225 4934225 C T rs762532417 PPL Synonymous SNV E1477E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.969 148822 chr16 4935806 4935806 G A rs368963070 PPL Synonymous SNV F950F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 3.931 148823 chr7 93518432 93518432 G T rs150637497 TFPI2 Nonsynonymous SNV F114L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 19.38 148824 chr13 32768288 32768288 A G rs754332808 FRY Synonymous SNV Q1200Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.472 148825 chr17 19812512 19812512 C T rs138663265 AKAP10 Synonymous SNV P597P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.176 148826 chr7 97862782 97862782 G A TECPR1 Synonymous SNV G541G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.811 148827 chr7 97870520 97870520 C G TECPR1 Nonsynonymous SNV E232Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 148828 chr7 98658226 98658226 C A SMURF1 Nonsynonymous SNV D67Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 148829 chr16 70432322 70432322 C T rs376488063 ST3GAL2 Nonsynonymous SNV D38N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 148830 chr14 39594223 39594223 G A GEMIN2 Nonsynonymous SNV V183I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.3 148831 chr7 102087238 102087238 C T rs142966165 ORAI2 Synonymous SNV L91L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.54 148832 chr7 102110079 102110079 C T rs142392925 LRWD1 Synonymous SNV Y277Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 148833 chr16 70732662 70732662 T C VAC14 Nonsynonymous SNV I338V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 148834 chr15 23890004 23890004 G A rs2233068 MAGEL2 Synonymous SNV S962S 0.013 0.018 0.024 3 15 7 0.008 7 0 0 0 0 Benign 12.7 148835 chr14 42356086 42356086 A G rs151006633 LRFN5 Synonymous SNV T86T 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 Likely benign 0.023 148836 chr14 45711988 45711988 C A rs138267500 MIS18BP1 Nonsynonymous SNV A212S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.699 148837 chr8 103137663 103137663 T C rs12549434 MIR5680 0 0 0.014 0 0 0 0 4 0 0 1 0 7.401 148838 chr15 31198093 31198093 G C rs866101912 FAN1 Nonsynonymous SNV Q409H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.45 148839 chr16 72830895 72830895 C T rs770650936 ZFHX3 Nonsynonymous SNV A982T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.043 148840 chr15 33261250 33261250 T C rs61739379 FMN1 Synonymous SNV G661G 0.003 0.003 0.014 1 3 1 0.003 4 0 0 2 0 Benign 0.006 148841 chr14 52520314 52520314 A G rs755436853 NID2 Nonsynonymous SNV I471T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 7.378 148842 chr15 33261440 33261440 T C rs61732708 FMN1 Nonsynonymous SNV K598R 0.003 0.003 0.014 1 3 1 0.003 4 0 0 1 0 Benign 21.5 148843 chr8 10480375 10480375 G A rs201245739 RP1L1 Nonsynonymous SNV P113S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Likely benign 0.646 148844 chr15 33833066 33833066 G A rs370200639 RYR3 Synonymous SNV T207T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.45 148845 chr16 1270566 1270566 G A rs769865105 CACNA1H Nonsynonymous SNV G2206S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.038 148846 chr17 2597278 2597278 G A rs184441238 CLUH Synonymous SNV N1049N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.49 148847 chr15 33988683 33988683 A G rs116926961 RYR3 Nonsynonymous SNV N2042S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 18.56 148848 chr13 47409317 47409317 G A HTR2A Synonymous SNV V273V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.848 148849 chr16 597059 597059 C T rs141227716 CAPN15 Nonsynonymous SNV A74V 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.022 148850 chr16 88968028 88968028 G A rs377280725 CBFA2T3 Nonsynonymous SNV P63L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 148851 chr17 27239701 27239701 T G rs116895969 PHF12 Nonsynonymous SNV S630R 0.008 0.005 0.007 1 9 2 0.003 2 0 0 0 0 18.87 148852 chr14 58796307 58796307 C G ARID4A Nonsynonymous SNV L242V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 14.08 148853 chr13 61986656 61986656 A G rs759279298 PCDH20 Synonymous SNV L526L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 148854 chr13 61987541 61987541 C A PCDH20 Stop gain E231X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 148855 chr16 68405428 68405428 G T rs200788350 SMPD3 Nonsynonymous SNV H219Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.078 148856 chr14 60005426 60005426 G A rs199705903 CCDC175 Synonymous SNV N496N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 4.439 148857 chr14 60433368 60433368 G A rs546523861 LRRC9 Nonsynonymous SNV G425S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 26.9 148858 chr16 8941583 8941583 T C rs762102200 PMM2 Synonymous SNV G214G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.65 148859 chr13 78191978 78191978 G A rs750044014 SCEL Nonsynonymous SNV V476I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.29 148860 chr16 89758285 89758285 C T rs143430910 CDK10 Nonsynonymous SNV S65L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.53 148861 chr16 89761710 89761710 C T rs141126939 CDK10 Synonymous SNV A237A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.23 148862 chr13 79191165 79191165 T C rs570836832 OBI1 Nonsynonymous SNV D244G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.6 148863 chr17 29647430 29647430 A G rs779861979 EVI2A Nonsynonymous SNV F7S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 148864 chr8 121267490 121267490 G A rs11774228 COL14A1 Nonsynonymous SNV V922I 0.011 0.01 0.007 4 13 4 0.01 2 0 0 0 0 Likely benign 16.22 148865 chr16 84024114 84024114 A G NECAB2 Nonsynonymous SNV S76G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.76 148866 chr16 72993847 72993847 C T rs143119253 ZFHX3 Synonymous SNV A66A 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 7.486 148867 chr16 84495490 84495490 C T rs181812727 ATP2C2-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.566 148868 chr5 150924330 150924330 G A rs201031099 FAT2 Nonsynonymous SNV P2120S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 148869 chr7 140302008 140302008 G C rs768591314 DENND2A Nonsynonymous SNV P64A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 148870 chr16 2231446 2231446 C T rs374123215 CASKIN1 Synonymous SNV P641P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.332 148871 chr15 45404761 45404761 C A rs143091240 DUOX2 Nonsynonymous SNV V106F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 148872 chr16 23481376 23481376 T C rs777175077 GGA2 Nonsynonymous SNV M521V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 148873 chr8 142366986 142366986 G A rs143127247 GPR20 Synonymous SNV H346H 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Benign 0.731 148874 chr17 37840892 37840892 T C rs946939541 PGAP3 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.174 148875 chr5 156533741 156533741 T C rs35960726 HAVCR2 Nonsynonymous SNV I97M 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 risk factor 23.7 148876 chr8 143623773 143623773 C T ADGRB1 Nonsynonymous SNV P1393L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 148877 chr14 74995256 74995256 C T rs767387605 LTBP2 Synonymous SNV G766G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.476 148878 chr14 105455409 105455409 C T rs201634836 CLBA1 Nonsynonymous SNV R185C 0.001 0 0 0 1 0 0 0 0 0 0 0 12 148879 chr7 143097016 143097016 G A rs766943140 EPHA1 Nonsynonymous SNV P188L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 148880 chr14 75500125 75500125 T C MLH3 Nonsynonymous SNV I1238V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 148881 chr17 38555354 38555354 C T rs760634848 TOP2A Nonsynonymous SNV V1076I 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 23.3 148882 chr17 19642910 19642910 C T rs138305312 ALDH3A1 Nonsynonymous SNV V343M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 148883 chr16 88600500 88600500 C G rs746999438 ZFPM1 Nonsynonymous SNV P712A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.13 148884 chr16 88907463 88907463 G A rs112454391 GALNS Nonsynonymous SNV S120L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 24.7 148885 chr15 57820953 57820953 T C CGNL1 Synonymous SNV Y1047Y 0.003 0.008 0 0 3 3 0 0 0 0 0 0 15.37 148886 chr15 58830668 58830668 C T rs146362585 LIPC Synonymous SNV C75C 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 15.98 148887 chr15 59408990 59408990 T C rs138108718 CCNB2 Synonymous SNV F233F 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 2.707 148888 chr16 8949104 8949104 G A rs148643770 CARHSP1 Synonymous SNV L121L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.17 148889 chr16 8949152 8949152 C T rs760222054 CARHSP1 Nonsynonymous SNV D105N 0 0.003 0 0 0 1 0 0 0 0 0 0 35 148890 chr16 31073508 31073508 C T rs202137812 ZNF668 Synonymous SNV A247A 0.014 0.008 0.003 9 17 3 0.023 1 0 0 0 0 11.21 148891 chr17 1012214 1012214 G A rs145650014 ABR Nonsynonymous SNV T32I 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 19.14 148892 chr8 145167136 145167136 C T rs556046484 WDR97 Nonsynonymous SNV R969C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21 148893 chr17 10360852 10360852 G A rs149417797 MYH4 Synonymous SNV A594A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.244 148894 chr5 179227588 179227588 C T rs146310078 MGAT4B Synonymous SNV T220T 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 13.5 148895 chr8 145947579 145947579 T C ZNF251 Nonsynonymous SNV Y489C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 148896 chr7 158823414 158823414 T C rs182364293 VIPR2 Nonsynonymous SNV R388G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.68 148897 chr17 27899386 27899386 C G rs770746489 TP53I13 Nonsynonymous SNV P204R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.51 148898 chr14 23391443 23391443 C T PRMT5 Nonsynonymous SNV R397H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 148899 chr17 13399996 13399996 T A rs369960976 HS3ST3A1 Nonsynonymous SNV T247S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 148900 chr16 3819262 3819262 G A rs142528559 CREBBP Synonymous SNV D953D 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 Benign/Likely benign 4.663 148901 chr5 180030301 180030301 C G FLT4 Nonsynonymous SNV G1328A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.64 148902 chr8 17206565 17206565 A T MTMR7 Nonsynonymous SNV L165Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 148903 chr17 40065860 40065860 C T rs146278746 ACLY Nonsynonymous SNV A147T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 148904 chr16 88779187 88779187 C T rs141967170 CTU2 Nonsynonymous SNV P117L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.062 148905 chr17 29509641 29509641 G A rs138840528 NF1 Synonymous SNV Q282Q 0.009 0.005 0.007 0 11 2 0 2 0 0 0 0 Benign/Likely benign 8.326 148906 chr17 30216328 30216328 T C rs554712042 UTP6 Synonymous SNV P173P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.216 148907 chr17 30648324 30648324 C T RHBDL3 Nonsynonymous SNV S397L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 148908 chr8 17928832 17928832 A G ASAH1 Synonymous SNV L81L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.811 148909 chr6 405085 405085 G A rs138866854 IRF4 Synonymous SNV E388E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.414 148910 chr17 1655948 1655948 C T rs144496567 SERPINF2 Synonymous SNV N245N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.803 148911 chr14 24909401 24909401 C T rs759354151 SDR39U1 Nonsynonymous SNV R175H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 35 148912 chr17 42476842 42476842 C T rs767645321 GPATCH8 Nonsynonymous SNV R790H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 148913 chr8 22146134 22146134 C G PIWIL2 Nonsynonymous SNV P314R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 148914 chr17 33954658 33954658 A G rs374337746 AP2B1 Synonymous SNV A356A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.87 148915 chr6 6222297 6222297 C T F13A1 Nonsynonymous SNV V361M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 148916 chr15 75094779 75094779 C T rs576918025 CSK Synonymous SNV D426D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.43 148917 chr8 23069628 23069628 C G rs750693414 TNFRSF10A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 148918 chr17 18210228 18210228 G A rs747010304 TOP3A Nonsynonymous SNV P28S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.5 148919 chr15 75942454 75942454 T G SNX33 Nonsynonymous SNV D337E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.8 148920 chr14 38261488 38261488 G A rs531053557 TTC6 Nonsynonymous SNV V1209I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.493 148921 chr17 45773587 45773587 T A rs374476647 TBKBP1 Nonsynonymous SNV C37S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.19 148922 chr15 27188501 27188501 C T rs41317330 GABRA5 Synonymous SNV A339A 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Benign 13.27 148923 chr15 28377324 28377324 G C HERC2 Nonsynonymous SNV D4164E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 148924 chr6 17652106 17652106 C T rs538288053 NUP153 Nonsynonymous SNV A483T 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 2.266 148925 chr14 45523650 45523650 C T rs924214977 TOGARAM1 Nonsynonymous SNV P1433L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 148926 chr8 27925233 27925233 G A NUGGC Nonsynonymous SNV T170I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 148927 chr17 37872609 37872609 A G rs55928971 ERBB2 Synonymous SNV P523P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 7.046 148928 chr8 30036935 30036935 A G rs751508980 DCTN6 Nonsynonymous SNV M99V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.95 148929 chr17 48151849 48151849 G A rs61730081 ITGA3 Nonsynonymous SNV V474M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 24.6 148930 chr17 1554728 1554728 C T rs373805624 PRPF8 Synonymous SNV K2210K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.35 148931 chr17 16229183 16229183 A C rs754697429 PIGL Nonsynonymous SNV M244L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.41 148932 chr17 48351872 48351872 G A rs9894445 TMEM92 Nonsynonymous SNV A4T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.575 148933 chr15 85383967 85383967 C T rs150985765 ALPK3 Nonsynonymous SNV P486L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 148934 chr15 40544627 40544627 G A rs761960069 C15orf56 Synonymous SNV N115N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.407 148935 chr16 68012185 68012185 G C DPEP3 Nonsynonymous SNV T224S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.736 148936 chr8 22423972 22423972 C G rs150705192 SORBS3 Nonsynonymous SNV D13E 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Likely benign 27.1 148937 chr17 48600459 48600459 A G rs75203823 MYCBPAP Nonsynonymous SNV M488V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.003 148938 chr17 27089048 27089048 C T rs547174019 FAM222B Nonsynonymous SNV R15K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.084 148939 chr17 17068297 17068297 T C MPRIP Nonsynonymous SNV L1163P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.116 148940 chr8 39323429 39323429 G A rs74836957 ADAM3A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.692 148941 chr17 17751014 17751014 G T rs202079010 TOM1L2 Nonsynonymous SNV P369T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 12.04 148942 chr15 89390581 89390581 C T ACAN Nonsynonymous SNV L513F 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 23.9 148943 chr8 39581395 39581395 T A rs79109719 ADAM18 Nonsynonymous SNV S692T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.04 148944 chr17 48761409 48761409 C T rs114877000 ABCC3 Nonsynonymous SNV L1352F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 26.5 148945 chr8 39581417 39581417 A G rs76378145 ADAM18 Nonsynonymous SNV E699G 0 0 0.007 0 0 0 0 2 0 0 0 0 17.39 148946 chr17 48762173 48762173 C T rs140060241 ABCC3 Nonsynonymous SNV T1406M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14 148947 chr17 18022357 18022357 G A rs778258793 MYO15A Synonymous SNV K81K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.951 148948 chr6 28200767 28200767 C T ZSCAN9 Synonymous SNV H332H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.54 148949 chr17 49337979 49337979 G T rs200641862 UTP18 Nonsynonymous SNV D12Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 148950 chr6 28254881 28254881 A G rs148512859 PGBD1 Nonsynonymous SNV H193R 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 0.127 148951 chr17 18155323 18155323 T G FLII Synonymous SNV A358A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.315 148952 chr15 89453072 89453072 C T rs141997845 MFGE8 Synonymous SNV S52S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.497 148953 chr6 28402855 28402855 T A rs768184339 ZSCAN23 Nonsynonymous SNV D186V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.84 148954 chr15 90192441 90192441 C A KIF7 Synonymous SNV G229G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.15 148955 chr8 56702758 56702758 G A rs61754978 TGS1 Nonsynonymous SNV G301R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 148956 chr17 33255084 33255084 T A rs779207902 CCT6B Nonsynonymous SNV M489L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.09 148957 chr8 56702798 56702798 C G rs61754979 TGS1 Nonsynonymous SNV T314S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 148958 chr8 56705280 56705280 A C rs61754980 TGS1 Nonsynonymous SNV N342T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.09 148959 chr8 57354387 57354387 G T rs11998459 PENK Nonsynonymous SNV T83N 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 0.002 148960 chr17 55950998 55950998 G A CUEDC1 Nonsynonymous SNV P182L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 148961 chr15 90274756 90274756 C T rs35502270 WDR93 Synonymous SNV C431C 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 15.42 148962 chr8 63161684 63161684 T C rs374585193 NKAIN3 Synonymous SNV L18L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.04 148963 chr14 65252290 65252290 G T rs370662950 SPTB Nonsynonymous SNV L1274M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 148964 chr15 42979998 42979998 T C rs922107316 STARD9 Synonymous SNV A2074A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.237 148965 chr8 67342252 67342252 G A rs115935831 RRS1 Nonsynonymous SNV D296N 0.006 0.013 0.007 0 7 5 0 2 0 0 0 0 Benign 20.8 148966 chr17 59984895 59984895 A G rs61752320 INTS2 Nonsynonymous SNV V352A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.685 148967 chr8 37691255 37691255 T C ADGRA2 Nonsynonymous SNV V449A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.054 148968 chr17 61498119 61498119 T C rs202056866 TANC2 Synonymous SNV P1592P 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 0.012 148969 chr17 2203084 2203084 T C rs148442042 SMG6 Synonymous SNV S321S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.538 148970 chr8 37796297 37796297 G C rs199910261 GOT1L1 Nonsynonymous SNV T73S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.666 148971 chr14 74086105 74086105 C T rs147952232 ACOT6 Synonymous SNV V62V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 148972 chr17 26879359 26879359 C T rs900462989 UNC119 Nonsynonymous SNV G73S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 19.84 148973 chr17 26919112 26919112 C T rs143027546 SPAG5 Nonsynonymous SNV V384M 0.003 0.01 0 0 4 4 0 0 0 0 0 0 24.3 148974 chr17 27049651 27049651 T C rs187794123 SNORD4A 0.003 0.01 0 0 4 4 0 0 0 0 0 0 14.35 148975 chr8 92365152 92365152 T C rs772171602 SLC26A7 Synonymous SNV V113V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.726 148976 chr15 52252928 52252928 T C LEO1 Nonsynonymous SNV N308D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.71 148977 chr8 56436510 56436510 C A rs140880948 XKR4 Synonymous SNV R559R 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Benign 8.759 148978 chr8 95523401 95523401 T C rs144137869 VIRMA Synonymous SNV P1134P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.79 148979 chr14 76232477 76232477 A G rs148938066 TTLL5 Nonsynonymous SNV D594G 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 Uncertain significance 23.8 148980 chr15 54305806 54305806 A G rs775524019 UNC13C Nonsynonymous SNV I236V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.6 148981 chr17 66519028 66519028 G A rs746113372 PRKAR1A Synonymous SNV E103E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.37 148982 chr17 67023524 67023524 C T rs79212004 ABCA9 Nonsynonymous SNV G620S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 148983 chr15 56032620 56032620 A G rs376236740 PRTG Synonymous SNV Y119Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.233 148984 chr9 100222613 100222613 A G rs916355748 TDRD7 Nonsynonymous SNV M263V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 148985 chr17 4607263 4607263 T G rs965926350 PELP1 Synonymous SNV R48R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 148986 chr14 81227818 81227818 C A rs750008544 CEP128 Nonsynonymous SNV C839F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.1 148987 chr17 39116587 39116587 C T rs201053719 KRT39 Nonsynonymous SNV R388Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.5 148988 chr17 6945900 6945900 C A rs377196600 SLC16A11 Nonsynonymous SNV G177C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.7 148989 chr15 63901352 63901352 G C rs767843368 HERC1 Synonymous SNV R4838R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.989 148990 chr9 108287762 108287762 A T rs201388999 RALGAPA1P1 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 1.684 148991 chr8 95518906 95518906 T C rs145312139 VIRMA Nonsynonymous SNV I1307V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 148992 chr17 39535317 39535317 A T rs61740669 KRT34 Nonsynonymous SNV C372S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 148993 chr15 65694750 65694750 C T rs756308307 IGDCC4 Synonymous SNV V213V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.93 148994 chr17 39535327 39535327 T C rs765270303 KRT34 Synonymous SNV A368A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 148995 chr17 39535336 39535336 A G rs762043346 KRT34 Synonymous SNV S365S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 148996 chr9 114904695 114904695 T C rs143124314 SUSD1 Nonsynonymous SNV Y204C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 148997 chr8 103664226 103664226 G A rs145387743 KLF10 Nonsynonymous SNV P101S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 1.781 148998 chr17 36971299 36971299 C T rs200594509 CWC25 Synonymous SNV V81V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.96 148999 chr15 68623349 68623349 A G rs751621148 ITGA11 Nonsynonymous SNV V624A 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 27.7 149000 chr15 69011053 69011053 C T rs3751554 CORO2B Synonymous SNV H323H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.78 149001 chr17 37459883 37459883 A G rs150339903 FBXL20 Synonymous SNV S38S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 2.997 149002 chr16 89753169 89753169 T G rs201507040 CDK10, CDK10 Synonymous SNV R17R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.494 149003 chr17 7307448 7307448 C T TMEM256-PLSCR3 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 149004 chr15 73996577 73996577 C T rs145827704 CD276 Nonsynonymous SNV T160M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.128 149005 chr15 101586303 101586303 C T LRRK1 Synonymous SNV F1027F 0.004 0 0 0 5 0 0 0 0 0 0 0 15.49 149006 chr17 56647769 56647769 G A TEX14 Nonsynonymous SNV T1265I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.472 149007 chr9 118949480 118949480 G A rs146292613 PAPPA Nonsynonymous SNV V155M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.6 149008 chr17 73754343 73754343 G A rs370412722 GALK1 Nonsynonymous SNV T352M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 149009 chr17 6023949 6023949 A G rs768591638 WSCD1 Nonsynonymous SNV T566A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 149010 chr17 61833661 61833661 G A rs146769873 CCDC47 Nonsynonymous SNV P296L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 149011 chr8 125061966 125061966 G C FER1L6 Nonsynonymous SNV G948A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.8 149012 chr15 78922240 78922240 C T rs56095004 CHRNB4 Nonsynonymous SNV R136Q 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 3.379 149013 chr8 132052045 132052045 G A rs773742788 ADCY8 Nonsynonymous SNV R179C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 149014 chr17 39394308 39394308 C A rs140915288 KRTAP9-8 Nonsynonymous SNV T2N 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 15.29 149015 chr15 79755573 79755573 C T rs61746219 MINAR1 Synonymous SNV A821A 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 16.82 149016 chr8 132966167 132966167 T G rs149106647 EFR3A Nonsynonymous SNV I161M 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 24.3 149017 chr8 133051350 133051350 G A rs139781048 OC90 Nonsynonymous SNV H160Y 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 25.2 149018 chr15 81572094 81572094 G A rs201210766 IL16 Nonsynonymous SNV V354M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.312 149019 chr6 74517839 74517839 T C rs772766334 CD109 Synonymous SNV L998L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.046 149020 chr8 133881996 133881996 G A rs116340633 TG Nonsynonymous SNV G67S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 149021 chr8 133899051 133899051 G A rs116254142 TG Synonymous SNV V478V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.354 149022 chr17 45229222 45229222 T C CDC27 Synonymous SNV R243R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.865 149023 chr16 31286964 31286964 T A rs61755177 ITGAM Nonsynonymous SNV F318Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.3 149024 chr17 7611425 7611425 G T rs368210549 EFNB3 Nonsynonymous SNV R91L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 21.8 149025 chr8 139163997 139163997 C T rs774102540 FAM135B Nonsynonymous SNV M907I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 149026 chr17 3985752 3985752 C T rs376884018 ZZEF1 Nonsynonymous SNV R898H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 149027 chr16 335197 335197 C T PDIA2 Synonymous SNV S264S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.121 149028 chr17 76503397 76503397 G T rs61737666 DNAH17 Nonsynonymous SNV P1547T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.38 149029 chr15 89010537 89010537 G A rs111338645 MRPL46 Synonymous SNV A24A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.17 149030 chr17 40557035 40557035 C T rs35648297 CAVIN1 Synonymous SNV L281L 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Benign 11.21 149031 chr17 41002140 41002140 C T rs145734216 AOC2 Synonymous SNV P655P 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 16.12 149032 chr9 131475468 131475468 G A rs140077098 PKN3 Nonsynonymous SNV E325K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 149033 chr17 76853714 76853714 C A rs141084603 TIMP2 Nonsynonymous SNV D119Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 149034 chr17 4798413 4798413 C T rs371539173 MINK1 Synonymous SNV Y950Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.4 149035 chr17 48148859 48148859 C T rs771016039 ITGA3 Synonymous SNV A312A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.72 149036 chr17 48156550 48156550 C T rs143488590 ITGA3 Synonymous SNV T837T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.82 149037 chr9 131710015 131710015 G C rs375427455 NUP188 Nonsynonymous SNV G6A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.488 149038 chr17 7219623 7219623 C T rs368548699 NEURL4 Nonsynonymous SNV R1501Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.4 149039 chr17 72248495 72248495 C T rs201639966 TTYH2 Synonymous SNV A92A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 149040 chr17 42254024 42254024 A G ASB16-AS1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.15 149041 chr17 42428492 42428492 G C rs747362041 GRN Nonsynonymous SNV A266P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.066 149042 chr17 42739692 42739692 A G rs181956190 MEIOC Nonsynonymous SNV D71G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24 149043 chr17 78157961 78157961 G A rs114688446 CARD14 Nonsynonymous SNV S200N 0.003 0.008 0.01 5 3 3 0.013 3 0 0 0 0 Benign 0.004 149044 chr17 43318984 43318984 C T rs183400333 FMNL1 Nonsynonymous SNV T523I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.38 149045 chr17 49245656 49245656 C T NME1-NME2, NME2 Synonymous SNV F60F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.21 149046 chr8 144877234 144877234 C T rs748120633 SCRIB Nonsynonymous SNV V1274M 0.003 0 0 0 3 0 0 0 0 0 0 0 14.94 149047 chr6 109548805 109548805 G A rs572142597 CCDC162P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.3 149048 chr6 109773807 109773807 G A rs201545668 MICAL1 Nonsynonymous SNV R195C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 149049 chr17 45918045 45918045 G A rs151091376 SCRN2 Synonymous SNV S55S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.43 149050 chr17 7329685 7329685 - CGC rs773768189 SPEM2 R130_H131insR 0.002 0.005 0 0 2 2 0 0 0 0 0 0 149051 chr6 110953315 110953315 T C rs779331218 CDK19 Synonymous SNV A128A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.972 149052 chr17 79652639 79652639 G A rs780726875 HGS Synonymous SNV K14K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.48 149053 chr17 79986974 79986974 G A rs75426455 LRRC45 Synonymous SNV E438E 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.807 149054 chr9 137801781 137801781 C T rs199881741 FCN1 Nonsynonymous SNV D282N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.382 149055 chr9 138557752 138557752 T G rs775876926 LCN9 Nonsynonymous SNV M174R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 149056 chr17 56326438 56326438 A C rs776533116 LPO Nonsynonymous SNV T32P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.382 149057 chr15 62169232 62169232 T C rs149307561 VPS13C Synonymous SNV R3345R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.637 149058 chr9 139302015 139302015 - AA ENTR1 0 0 0.003 0 0 0 0 1 0 0 0 0 149059 chr9 139411754 139411754 T A NOTCH1 Nonsynonymous SNV I509F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 149060 chr6 117715345 117715345 A G rs145259410 ROS1 Nonsynonymous SNV Y382H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 149061 chr15 63893617 63893617 T G rs199620277 FBXL22 Nonsynonymous SNV L159W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 149062 chr17 74465951 74465951 G A rs552108207 AANAT Nonsynonymous SNV A175T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 149063 chr17 59112109 59112109 A C rs139961894 BCAS3 Synonymous SNV R574R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.56 149064 chr17 8146353 8146353 G A rs201492796 CTC1 Synonymous SNV V49V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.2 149065 chr17 75187290 75187290 G A SEC14L1 Nonsynonymous SNV V47I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.758 149066 chr15 65491339 65491339 C T rs150023863 CILP Nonsynonymous SNV V429M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.2 149067 chr6 129921799 129921799 T C rs150882494 ARHGAP18 Synonymous SNV K520K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.088 149068 chr17 53828533 53828533 C G rs533379969 PCTP Synonymous SNV P23P 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 17.53 149069 chr17 63010843 63010843 A G GNA13 Synonymous SNV D127D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.126 149070 chr9 140481463 140481463 C A ZMYND19 Synonymous SNV P105P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 149071 chr9 140786708 140786708 G A rs117371591 LOC100133077 0 0 0.014 0 0 0 0 4 0 0 0 0 2.587 149072 chr18 13096294 13096294 G T rs750503565 CEP192 Nonsynonymous SNV C2182F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 149073 chr17 66938141 66938141 G C rs35643726 ABCA8 Nonsynonymous SNV T12S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 149074 chr18 21083647 21083647 C A rs112277818 RMC1 Nonsynonymous SNV P22H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 22.7 149075 chr9 18889704 18889704 C T rs377090991 ADAMTSL1 Nonsynonymous SNV A1534V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 149076 chr15 73615029 73615029 G A rs548860628 HCN4 Synonymous SNV L1135L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.126 149077 chr17 67257889 67257889 C T rs761379058 ABCA5 Nonsynonymous SNV V1106I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.092 149078 chr17 61902233 61902233 G A rs61741173 FTSJ3 Synonymous SNV D256D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.125 149079 chr15 75798254 75798254 C T rs144459324 PTPN9 Nonsynonymous SNV A244T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 149080 chr9 26905602 26905602 A C rs142598453 PLAA Synonymous SNV S742S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.01 149081 chr17 78357600 78357600 A G rs12944385 RNF213 Nonsynonymous SNV K4732E 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign 4.014 149082 chr17 6371635 6371635 G A rs896271208 PITPNM3 Synonymous SNV I564I 0 0.008 0 0 0 3 0 0 0 0 0 0 7.07 149083 chr16 2273710 2273710 G C rs781685270 E4F1 Synonymous SNV A32A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.998 149084 chr9 27185613 27185613 A T TEK Nonsynonymous SNV N291I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 149085 chr18 31324984 31324984 C T rs745433143 ASXL3 Synonymous SNV T1724T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.357 149086 chr9 34635679 34635679 G A rs11559048 SIGMAR1 Nonsynonymous SNV R177W 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign 34 149087 chr17 79207494 79207494 G A rs758918552 TEPSIN Nonsynonymous SNV S133L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 149088 chr6 152776656 152776656 C G SYNE1 Nonsynonymous SNV E940Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 149089 chr17 3928345 3928345 G A rs138414828 ZZEF1 Synonymous SNV S2320S 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 11.01 149090 chr18 34298357 34298359 GCC - rs765909608 FHOD3 P847del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 149091 chr17 72921014 72921014 C G OTOP2 Nonsynonymous SNV A96G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.32 149092 chr16 818475 818475 C T rs200871174 MSLN Nonsynonymous SNV R573W 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 18.84 149093 chr17 80545014 80545014 C G rs779943455 FOXK2 Nonsynonymous SNV T551S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.831 149094 chr17 73204709 73204709 A G rs761849736 NUP85 Nonsynonymous SNV K41E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 149095 chr9 71840272 71840272 G A rs140444730 TJP2 Synonymous SNV T339T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.68 149096 chr9 5921697 5921699 AAT - rs544774645 KIAA2026 I1433del 0.001 0 0.01 0 1 0 0 3 0 0 0 0 149097 chr16 84218532 84218532 G A rs189027696 TAF1C Synonymous SNV D21D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.073 149098 chr16 3085214 3085214 A G rs570632135 BICDL2 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.6 149099 chr9 71679895 71679895 C T rs761909026 FXN Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 15 149100 chr15 86125256 86125256 G A rs116608773 AKAP13 Synonymous SNV T1319T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 7.643 149101 chr16 31235724 31235724 T C TRIM72 Nonsynonymous SNV V361A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 149102 chr18 50450203 50450203 G A rs140998273 DCC Nonsynonymous SNV R275Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 149103 chr18 50450219 50450219 C T DCC Synonymous SNV I280I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 149104 chr17 8791494 8791494 T C rs141354792 PIK3R5 Nonsynonymous SNV N151S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 2.478 149105 chr9 75773649 75773649 G T rs35304764 ANXA1 Synonymous SNV A35A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 9.496 149106 chr17 7225192 7225192 C A rs749106954 NEURL4 Nonsynonymous SNV V953F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.8 149107 chr9 79320113 79320113 C T rs901107332 PRUNE2 Synonymous SNV Q2359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 149108 chr16 3254942 3254942 G A rs267604534 OR1F1 Synonymous SNV K232K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 1.488 149109 chr15 89806674 89806674 A C FANCI Nonsynonymous SNV Q176H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 149110 chr6 167753991 167753991 G A TTLL2 Nonsynonymous SNV M201I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 149111 chr6 167754419 167754419 A C rs146295287 TTLL2 Nonsynonymous SNV K344T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 149112 chr18 61077602 61077602 T G rs572345457 VPS4B Nonsynonymous SNV K73Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.7 149113 chr9 95776254 95776254 A T rs34412050 FGD3 Nonsynonymous SNV T386S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 10.11 149114 chr18 23872229 23872229 G A TAF4B Nonsynonymous SNV G542E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 149115 chrM 1195 1195 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 149116 chrUn_gl000220 122158 122158 - CTT LOC100507412 0 0 0.017 0 0 0 0 5 0 0 0 0 149117 chr18 66348328 66348328 C T rs117449369 TMX3 Nonsynonymous SNV V168I 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 14.95 149118 chr16 10788294 10788294 G A rs182259799 TEKT5 Nonsynonymous SNV S146L 0.003 0.003 0.014 4 4 1 0.01 4 0 0 0 0 20.9 149119 chr7 4830913 4830913 T G rs373188621 AP5Z1 Nonsynonymous SNV V618G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 149120 chr17 74684283 74684283 G A MXRA7 Synonymous SNV G149G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 149121 chr18 30825280 30825280 G C rs749917204 CCDC178 Nonsynonymous SNV L508V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 149122 chr18 32822505 32822505 T C ZNF397 Nonsynonymous SNV V24A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 149123 chr16 57693366 57693366 T C ADGRG1 Nonsynonymous SNV L448P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 149124 chr18 33795777 33795777 C A MOCOS Stop gain S545X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 149125 chr16 57950040 57950040 C T rs764107600 CNGB1 Nonsynonymous SNV R731H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 149126 chr18 72353069 72353069 A G rs1032729581 ZNF407 Nonsynonymous SNV H1598R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 149127 chr17 78087073 78087073 C T GAA Synonymous SNV L699L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 13.32 149128 chrX 135494468 135494468 C T rs144761853 ADGRG4 Nonsynonymous SNV R2994W 0 0 0.007 0 0 0 0 2 0 0 1 0 35 149129 chr17 12656546 12656546 G C rs28730825 MYOCD Nonsynonymous SNV Q647H 0.013 0.01 0.01 2 15 4 0.005 3 0 0 0 0 25.5 149130 chr17 78172404 78172404 G A CARD14 Nonsynonymous SNV R385K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.692 149131 chr16 14766602 14766602 C T rs149977312 PLA2G10 Synonymous SNV P120P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 18.5 149132 chr18 43417493 43417493 G T rs564537225 SIGLEC15 Nonsynonymous SNV R43L 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 149133 chr18 43418718 43418718 A C rs78592672 SIGLEC15 Nonsynonymous SNV S178R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.355 149134 chr18 43460116 43460116 C T rs34064739 EPG5 Nonsynonymous SNV S1864N 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 8.788 149135 chrX 153594987 153594987 G A rs781823583 FLNA Synonymous SNV N336N 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 3.503 149136 chr18 47369631 47369631 C T rs775277216 MYO5B Nonsynonymous SNV G1531S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 149137 chr16 15771722 15771722 C T rs201587506 NDE1 Nonsynonymous SNV A101V 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 Uncertain significance 25.7 149138 chr16 15818647 15818647 G C rs150033906 MYH11 Nonsynonymous SNV Q1325E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.81 149139 chrX 24665185 24665185 C G PCYT1B Nonsynonymous SNV G13A 0 0 0.007 0 0 0 0 2 0 0 1 0 13.72 149140 chr17 17119711 17119711 G C rs199889477 FLCN Nonsynonymous SNV P428R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.16 149141 chr17 5404011 5404011 T C rs73973816 LOC728392 Nonsynonymous SNV D89G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.31 149142 chr17 5418107 5418107 G A rs74929853 NLRP1 Synonymous SNV G1389G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.814 149143 chr17 5424886 5424886 G A rs2301583 NLRP1 Synonymous SNV T1217T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.692 149144 chrX 46918243 46918243 T C rs35292182 JADE3 Nonsynonymous SNV F746L 0 0 0.01 2 0 0 0.005 3 0 0 1 1 1.492 149145 chr17 80789502 80789502 C T rs35283702 ZNF750 Nonsynonymous SNV G277R 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign 22.8 149146 chr19 10624687 10624687 C G S1PR5 Nonsynonymous SNV G334A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.763 149147 chr17 19290108 19290108 G A rs200408500 MFAP4 Nonsynonymous SNV P41L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.761 149148 chr17 19316451 19316451 G C rs374796070 RNF112 Synonymous SNV P194P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 149149 chr7 30485771 30485771 T C rs746234501 NOD1 Synonymous SNV S813S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.281 149150 chrX 55026900 55026900 C T rs374430929 APEX2 Synonymous SNV P15P 0.006 0 0.007 0 7 0 0 2 0 0 1 0 12 149151 chrX 70888257 70888257 G - rs766186611 LOC101059915 Stop gain L203* 0 0 0.007 0 0 0 0 2 0 0 1 0 149152 chr17 96928 96928 C T rs776289434 RPH3AL Nonsynonymous SNV R167H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 149153 chr18 59824440 59824440 C G rs200756305 PIGN Nonsynonymous SNV E122Q 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 Uncertain significance 28.9 149154 chr18 11886534 11886536 CTC - MPPE1 E255del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 149155 chr16 2374529 2374529 C T rs759505278 ABCA3 Nonsynonymous SNV R108H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 149156 chr16 24358069 24358069 G A rs150135113 CACNG3 Nonsynonymous SNV V76M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 149157 chr18 13053057 13053057 A G rs10048340 CEP192 Nonsynonymous SNV T1053A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.038 149158 chr16 24921736 24921736 - CAG rs374299311 SLC5A11 S522_V523insS 0.001 0 0 0 1 0 0 0 0 0 0 0 149159 chr10 100152306 100152306 C A rs143172754 PYROXD2 Nonsynonymous SNV Q315H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.64 149160 chr10 100159984 100159984 - A rs764705923 PYROXD2 Frameshift insertion P116Sfs*48 0 0 0.003 0 0 0 0 1 0 0 0 0 149161 chr10 100159985 100159985 G A rs777614938 PYROXD2 Synonymous SNV N115N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.925 149162 chr7 43827547 43827547 C T rs368057250 BLVRA Synonymous SNV A19A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.39 149163 chr19 14288369 14288369 C T rs146417164 ADGRL1 Synonymous SNV P86P 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 12.2 149164 chr16 2814623 2814623 C G SRRM2 Nonsynonymous SNV T1365R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 149165 chr19 1456950 1456950 C T rs542130614 APC2 Synonymous SNV C304C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.66 149166 chr16 2816548 2816548 C T rs555127784 SRRM2 Nonsynonymous SNV R2007C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 149167 chr16 2816949 2816949 C T rs138669456 SRRM2 Synonymous SNV G2140G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 149168 chr17 63957677 63957677 C T rs201923142 CEP112 Synonymous SNV Q550Q 0.003 0 0 2 4 0 0.005 0 1 0 0 0 13.5 149169 chr19 1467916 1467916 G C rs367655515 APC2 Nonsynonymous SNV R1538P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23 149170 chr10 101829576 101829576 C A rs148864623 CPN1 Synonymous SNV V157V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 149171 chr10 102286251 102286251 A T rs1802224 NDUFB8 Nonsynonymous SNV S125T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 149172 chr17 902063 902063 G A rs146718482 TIMM22 Nonsynonymous SNV D95N 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 25.8 149173 chr16 84050213 84050213 G A rs573821154 SLC38A8 Nonsynonymous SNV T358M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.5 149174 chr17 9631617 9631617 G A rs376997180 USP43 Synonymous SNV S889S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.383 149175 chr10 103825629 103825629 C T rs199816481 HPS6 Nonsynonymous SNV A133V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 21.2 149176 chr16 30021413 30021413 C T rs200955492 DOC2A Nonsynonymous SNV G44E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.269 149177 chr18 10794956 10794956 C T rs922549583 PIEZO2 Synonymous SNV L524L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.922 149178 chr18 29847909 29847909 T C GAREM1 Synonymous SNV S852S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.449 149179 chr7 47384367 47384367 T C TNS3 Nonsynonymous SNV H879R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.052 149180 chr16 30680751 30680751 G A rs748536879 FBRS Nonsynonymous SNV V910M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.04 149181 chr19 1567574 1567574 G A rs570672215 MEX3D Synonymous SNV L162L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.739 149182 chr16 30990696 30990696 C T rs537371612 SETD1A Nonsynonymous SNV R1197C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 19.04 149183 chr9 133506175 133506175 C T rs199940132 FUBP3 Synonymous SNV G426G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.67 149184 chr16 3100420 3100420 C T MMP25 Synonymous SNV F178F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.853 149185 chr16 31088768 31088768 C T rs775251138 ZNF646 Nonsynonymous SNV R375C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 149186 chr18 24128261 24128261 G A KCTD1 Synonymous SNV D80D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.77 149187 chr18 28609516 28609516 G C DSC3 Nonsynonymous SNV Q145E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.8 149188 chr17 33802398 33802398 A T SLFN12L Nonsynonymous SNV N437K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.06 149189 chr17 33802399 33802399 T C SLFN12L Nonsynonymous SNV N437S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 149190 chr17 33802408 33802408 C T rs771593653 SLFN12L Nonsynonymous SNV G434D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.048 149191 chr16 88580825 88580825 A T ZFPM1 Nonsynonymous SNV Q100L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.633 149192 chr18 43578776 43578776 G A rs1043571445 PSTPIP2 Synonymous SNV T182T 0 0.003 0 0 0 1 0 0 0 0 0 0 13 149193 chr10 12043810 12043810 T C rs1038556253 UPF2 Nonsynonymous SNV K507E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.76 149194 chr17 34185968 34185968 A G rs754218420 HEATR9 Nonsynonymous SNV L248P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 149195 chr7 71868290 71868290 G A CALN1 Nonsynonymous SNV A22V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.433 149196 chr7 73030426 73030426 G A rs140854725 MLXIPL Synonymous SNV A125A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 15.49 149197 chr18 56203114 56203114 T C rs139355530 ALPK2 Synonymous SNV Q1435Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.063 149198 chr16 54967040 54967040 C T rs115549200 IRX5 Nonsynonymous SNV P235L 0.009 0.018 0.01 3 10 7 0.008 3 0 0 0 0 11.97 149199 chr7 87230383 87230383 C T ABCB1 Synonymous SNV T13T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.95 149200 chr18 56337955 56337955 G C rs533423784 LOC101927322 Nonsynonymous SNV P88R 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 9.999 149201 chr19 12996785 12996785 G C rs752204035 KLF1 Nonsynonymous SNV P87A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.08 149202 chr18 47107814 47107814 G A rs866183717 LIPG Nonsynonymous SNV E201K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.6 149203 chr18 60232248 60232248 A G rs61740184 ZCCHC2 Nonsynonymous SNV K589E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.2 149204 chr7 90894528 90894528 G C rs150690083 FZD1 Synonymous SNV P111P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.26 149205 chr9 139734272 139734272 G A rs147124725 RABL6 Nonsynonymous SNV G630R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 149206 chr9 139836772 139836772 C T rs769791008 FBXW5 Synonymous SNV T274T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.25 149207 chr17 7485687 7485687 A G LOC100996842 Nonsynonymous SNV L190P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.592 149208 chr18 54353212 54353212 G A rs150350647 WDR7 Synonymous SNV V182V 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Benign 6.343 149209 chr17 39465382 39465382 G A KRTAP16-1 Synonymous SNV L42L 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 7.068 149210 chr17 3953080 3953080 G A rs61731013 ZZEF1 Synonymous SNV V1979V 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 5.223 149211 chr9 140005194 140005194 C T rs374355556 DPP7 Nonsynonymous SNV R462Q 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 26.7 149212 chr19 2252460 2252460 G A rs77817818 JSRP1 Synonymous SNV H288H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.195 149213 chr16 67237643 67237643 - AC ELMO3 Frameshift insertion E676Dfs*5 0.003 0 0 0 4 0 0 0 0 0 0 0 149214 chr18 6868202 6868202 G A ARHGAP28 Synonymous SNV E101E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.208 149215 chr18 6868203 6868203 C T ARHGAP28 Nonsynonymous SNV P102S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.518 149216 chr17 17053546 17053546 A G rs887793112 MPRIP Nonsynonymous SNV H605R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 149217 chr19 3006625 3006625 C T rs201519885 TLE2 Synonymous SNV P309P 0.002 0.005 0.014 4 2 2 0.01 4 0 0 0 0 10.71 149218 chr17 7748900 7748900 G A KDM6B Nonsynonymous SNV A10T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 149219 chr17 18024576 18024576 A C rs372125621 MYO15A Nonsynonymous SNV Q821P 0.005 0 0.017 1 6 0 0.003 5 0 0 0 0 Conflicting interpretations of pathogenicity 12.02 149220 chr10 24669805 24669805 G C rs756395776 KIAA1217 Nonsynonymous SNV S121T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 149221 chr17 78064007 78064007 T G CCDC40 Nonsynonymous SNV C968G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.479 149222 chr17 41116127 41116127 C T rs140103494 AARSD1, PTGES3L-AARSD1 Nonsynonymous SNV G56E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 149223 chr19 3453832 3453832 G A rs1015311646 NFIC Synonymous SNV P447P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 149224 chr19 35084477 35084477 T C rs115234601 SCGB2B2 Nonsynonymous SNV I92V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.003 149225 chr10 8006253 8006253 A G rs751582251 TAF3 Synonymous SNV A260A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.292 149226 chr17 19286543 19286543 G A rs767773020 MAPK7 Synonymous SNV X678X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.96 149227 chr17 42148550 42148550 T G G6PC3 Nonsynonymous SNV W73G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.7 149228 chr16 76486462 76486462 T A rs144559073 CNTNAP4 Nonsynonymous SNV S248T 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.62 149229 chr10 3180461 3180461 C G rs190434719 PITRM1 Nonsynonymous SNV V898L 0.003 0 0.01 0 3 0 0 3 0 0 0 0 25.1 149230 chr19 1011425 1011425 G A rs376911320 TMEM259 Synonymous SNV L386L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 149231 chr17 79173629 79173629 G A rs375208941 CEP131 Nonsynonymous SNV R305W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 149232 chr18 76757009 76757009 A G rs374063198 SALL3 Nonsynonymous SNV Q1197R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 149233 chr18 76829488 76829488 C T rs533416881 ATP9B Synonymous SNV Y26Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.625 149234 chr10 44345134 44345134 A G rs78197031 LINC00619 0 0 0.037 0 0 0 0 11 0 0 1 0 6.133 149235 chr19 36353888 36353888 T A rs768868861 KIRREL2 Nonsynonymous SNV S509T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.161 149236 chr19 17692136 17692136 C G rs755935692 COLGALT1 Synonymous SNV T584T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 149237 chr19 36497345 36497345 C T SYNE4 Nonsynonymous SNV G170S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 149238 chr19 10670107 10670107 G A rs373366565 KRI1 Synonymous SNV N374N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.726 149239 chr17 45747071 45747071 A G rs746454717 KPNB1 Nonsynonymous SNV K273E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 15.68 149240 chr19 18119395 18119395 - A rs771567731 ARRDC2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 149241 chr19 10206991 10206991 C T ANGPTL6 Synonymous SNV A83A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 149242 chr17 26816300 26816300 C T SLC13A2 Synonymous SNV A57A 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 17.48 149243 chr10 49934027 49934027 C T rs149430500 WDFY4 Synonymous SNV H231H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.02 149244 chr19 11546521 11546521 G A rs867672439 CCDC151 Synonymous SNV G24G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.549 149245 chr10 50121566 50121566 C T rs532434669 LRRC18 Nonsynonymous SNV R212K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.032 149246 chr17 29151563 29151563 C T CRLF3 Nonsynonymous SNV G36E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 149247 chr10 5138672 5138672 C G rs139011578 AKR1C3 Nonsynonymous SNV A52G 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 23.2 149248 chr18 112543 112543 G A rs993249105 ROCK1P1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.386 149249 chr19 38572546 38572546 C A rs73630827 SIPA1L3 Nonsynonymous SNV A114D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.711 149250 chr19 14749020 14749020 T C rs771976175 ADGRE3 Nonsynonymous SNV R335G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 149251 chr10 61413639 61413639 A G SLC16A9 Nonsynonymous SNV M295T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.121 149252 chr19 39303158 39303158 G A rs8106404 LGALS4 Nonsynonymous SNV T16M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 11.92 149253 chr19 13264042 13264042 G A rs148278682 IER2 Synonymous SNV S14S 0 0.005 0 0 0 2 0 0 0 0 0 0 16.36 149254 chr17 56573302 56573302 T A rs766709487 MTMR4 Nonsynonymous SNV D734V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.027 149255 chr19 307282 307282 T C rs35042658 MIER2 Nonsynonymous SNV S449G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.05 149256 chr19 13563767 13563767 G A rs1800039 CACNA1A Synonymous SNV A154A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 14.53 149257 chr19 40581739 40581739 G A ZNF780A Nonsynonymous SNV L204F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.06 149258 chr19 15807312 15807312 G T rs200143561 CYP4F12 Nonsynonymous SNV A463S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 21.2 149259 chr19 14153417 14153417 G A rs550622916 IL27RA Synonymous SNV P229P 0 0.005 0 0 0 2 0 0 0 0 0 0 7.561 149260 chr17 59067526 59067526 G A rs36055285 BCAS3 Synonymous SNV T472T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.46 149261 chr17 59533887 59533887 G A TBX4 Synonymous SNV E12E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.52 149262 chr17 62135320 62135320 C T rs61736509 ERN1 Nonsynonymous SNV A414T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.55 149263 chr7 138430004 138430004 C T rs374533066 ATP6V0A4 Nonsynonymous SNV G448R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 149264 chr19 36053342 36053342 C T rs533067520 ATP4A Nonsynonymous SNV D139N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 149265 chr10 81317064 81317064 A G rs17096771 SFTPA2 Synonymous SNV P226P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.054 149266 chr17 1264430 1264430 G A rs139215804 YWHAE Synonymous SNV S178S 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 16.15 149267 chr19 36258633 36258633 C T rs150574903 PROSER3 Nonsynonymous SNV P540S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.159 149268 chr19 16025591 16025591 G T rs150098509 CYP4F11 Nonsynonymous SNV D410E 0 0.005 0 0 0 2 0 0 0 0 0 0 18.57 149269 chr19 44039233 44039233 C T rs767597602 ZNF575 Synonymous SNV T44T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 149270 chr19 17953867 17953867 G - JAK3 Q179Sfs*7 0.003 0.003 0 0 3 1 0 0 0 0 0 0 149271 chr19 3816834 3816834 G T ZFR2 Synonymous SNV A647A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.849 149272 chr19 44423751 44423751 T C ZNF45 Nonsynonymous SNV E39G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 149273 chr19 38377226 38377229 TCAC - rs151219712 WDR87 S2361Tfs*22 0.003 0 0 0 4 0 0 0 0 0 0 0 149274 chr10 95660785 95660785 G A rs750242282 SLC35G1 Synonymous SNV S212S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.199 149275 chr19 38386940 38386940 C T rs142831471 WDR87 Synonymous SNV S28S 0.004 0 0.007 0 5 0 0 2 0 0 0 0 10.06 149276 chr7 148979412 148979412 C G rs747304567 ZNF783 Nonsynonymous SNV P540R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.008 149277 chr17 7188427 7188427 G A rs374828098 SLC2A4 Synonymous SNV A347A 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 5.116 149278 chr19 38993539 38993539 C T rs762212220 RYR1 Synonymous SNV L2619L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.59 149279 chr17 19641763 19641763 T C ALDH3A1 Nonsynonymous SNV N407S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.869 149280 chr19 39880906 39880906 G C PAF1 Nonsynonymous SNV P24R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 149281 chr10 99655719 99655719 C T rs747798625 CRTAC1 Nonsynonymous SNV G414R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 149282 chr19 40318163 40318163 C A DYRK1B Nonsynonymous SNV S314I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 149283 chr19 4510855 4510855 G C rs200831658 PLIN4 Nonsynonymous SNV N1039K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.377 149284 chr7 150748179 150748179 A G rs776359742 ASIC3 Nonsynonymous SNV I355V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.93 149285 chr7 150938996 150938996 C T SMARCD3 Synonymous SNV V248V 0 0 0 3 0 0 0.008 0 0 0 0 0 12.19 149286 chr19 40900537 40900537 C T rs139120811 PRX Nonsynonymous SNV G1241D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 25.6 149287 chr17 42232768 42232768 C T rs137885797 C17orf53 Nonsynonymous SNV P512S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.3 149288 chr17 42400871 42400871 G A rs374631808 SLC25A39 Synonymous SNV T20T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.759 149289 chr17 21319209 21319209 A G rs782054900 KCNJ12, KCNJ18 Synonymous SNV A185A 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 0.13 149290 chr10 98744538 98744538 G A rs202072865 LCOR Nonsynonymous SNV D1441N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.4 149291 chr19 46215708 46215708 G A rs768857149 FBXO46 Nonsynonymous SNV P349L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.26 149292 chr19 19710165 19710165 A - rs754292125 PBX4 Stop gain L44* 0 0.005 0 0 0 2 0 0 0 0 0 0 149293 chr19 20002725 20002725 C T rs182870871 ZNF253 Synonymous SNV T147T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.36 149294 chr17 26691381 26691381 G C rs782522084 SEBOX Nonsynonymous SNV S161C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.119 149295 chr19 31769002 31769002 G A rs776111487 TSHZ3 Nonsynonymous SNV S566L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.73 149296 chr19 46733758 46733758 G A rs200224991 IGFL1 Nonsynonymous SNV D103N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 149297 chr19 42192071 42192071 T C rs1860331 CEACAM7 Synonymous SNV P8P 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 0.011 149298 chr19 47259307 47259307 G A FKRP Synonymous SNV V200V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 149299 chr17 2883607 2883607 G A rs75798518 RAP1GAP2 Nonsynonymous SNV R193Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 24.5 149300 chr8 6479164 6479164 G A rs370842740 MCPH1 Nonsynonymous SNV G709R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 12.15 149301 chr19 23542482 23542482 T A ZNF91 Nonsynonymous SNV H1068L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 149302 chr11 1029130 1029130 G A rs369841224 MUC6 Synonymous SNV D432D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 149303 chr17 7496127 7496127 G C rs560322755 FXR2 Synonymous SNV P538P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.049 149304 chr8 10465844 10465844 C T rs760292343 RP1L1 Nonsynonymous SNV V1922I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.457 149305 chr19 30021124 30021124 G C rs756416884 VSTM2B Synonymous SNV A232A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.983 149306 chr19 3094655 3094655 T C rs758302558 GNA11 Synonymous SNV T2T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.45 149307 chr11 107682406 107682406 A G rs989227732 SLC35F2 Nonsynonymous SNV L134P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 149308 chr11 108121464 108121464 T C rs35578748 ATM Synonymous SNV P424P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.835 149309 chr19 44536189 44536189 A G rs150090162 ZNF222 Nonsynonymous SNV N161S 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 0.002 149310 chr19 34302229 34302229 G A rs567859330 KCTD15 Synonymous SNV Q155Q 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 8.188 149311 chr17 55957068 55957068 G A rs72839904 CUEDC1 Nonsynonymous SNV S123L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 149312 chr17 59485657 59485657 T C rs138242042 TBX2 Synonymous SNV S643S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.057 149313 chr19 4529797 4529797 G A rs201340592 PLIN5 Nonsynonymous SNV T113M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.32 149314 chr19 45394808 45394808 G A rs372186500 TOMM40 Nonsynonymous SNV A46T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.08 149315 chr19 50412402 50412402 G C rs150097126 NUP62 Synonymous SNV L221L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.12 149316 chr19 50436119 50436119 C T rs141045405 ATF5 Stop gain R207X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 149317 chr8 24188832 24188832 A C rs142585876 ADAM28 Nonsynonymous SNV T425P 0 0 0 4 0 0 0.01 0 0 0 0 0 23.1 149318 chr10 127455497 127455497 G A rs148927347 MMP21 Nonsynonymous SNV L482F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 149319 chr19 46303752 46303752 A G rs189983010 RSPH6A Nonsynonymous SNV V623A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 149320 chr19 37117490 37117490 A G rs150193342 ZNF382 Nonsynonymous SNV T230A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.138 149321 chr8 24813985 24813985 C T rs62636518 NEFL Synonymous SNV K15K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.71 149322 chr19 51411953 51411953 G A rs145079363 KLK4 Synonymous SNV L24L 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 9.804 149323 chr19 51462533 51462533 G A rs377282019 KLK6 Stop gain R101X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 149324 chr8 25720240 25720240 A C rs752643063 EBF2 Synonymous SNV P361P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.173 149325 chr8 27098636 27098636 T C STMN4 Nonsynonymous SNV R76G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 149326 chr8 28908627 28908627 A T HMBOX1 Synonymous SNV R406R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.036 149327 chr19 5223049 5223049 G T PTPRS Synonymous SNV A896A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.158 149328 chr17 80899313 80899313 G A rs188081246 TBCD Nonsynonymous SNV R1173H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 13.71 149329 chr10 135140448 135140448 G A rs138631375 CALY Synonymous SNV C98C 0.003 0 0.007 0 4 0 0 2 0 0 0 0 12.45 149330 chr11 124481510 124481510 C T rs751256451 PANX3 Nonsynonymous SNV R20C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 149331 chr11 124766468 124766468 G A rs200473906 ROBO4 Nonsynonymous SNV P22S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 149332 chr19 50097853 50097853 C T rs375190208 PRR12 Synonymous SNV R114R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.18 149333 chr17 40280671 40280671 T C rs781104069 RAB5C Nonsynonymous SNV N105S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.854 149334 chr19 50156379 50156379 C T rs769617056 SCAF1 Synonymous SNV T911T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.536 149335 chr17 4060224 4060224 C T CYB5D2 Nonsynonymous SNV P103S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 149336 chr11 125495758 125495758 C T rs544839853 CHEK1 Nonsynonymous SNV R35C 0 0 0.007 0 0 0 0 2 0 0 0 0 5.587 149337 chr19 4310504 4310504 T C FSD1 Nonsynonymous SNV L134S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24 149338 chr19 50386248 50386248 C T rs368312327 TBC1D17 Nonsynonymous SNV R283W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 149339 chr11 381754 381754 G A rs75988367 B4GALNT4 Nonsynonymous SNV V1028I 0.004 0 0 0 5 0 0 0 0 0 0 0 4.326 149340 chr19 438747 438747 G C rs757510795 SHC2 Nonsynonymous SNV L231V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.3 149341 chr19 4422739 4422739 G A rs143894910 CHAF1A Synonymous SNV A398A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.65 149342 chr19 40149263 40149263 G A rs187604453 LGALS16 Nonsynonymous SNV G86S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 149343 chr19 51016027 51016027 C T rs778530582 ASPDH Nonsynonymous SNV R108Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.47 149344 chr11 605141 605141 G A rs988258695 PHRF1 Nonsynonymous SNV R392Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 149345 chr19 40710490 40710490 C T rs140663696 MAP3K10 Nonsynonymous SNV T321M 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25.6 149346 chr11 132307180 132307180 G A rs141840320 OPCML Synonymous SNV Y200Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.09 149347 chr19 40993632 40993632 C A SPTBN4 Synonymous SNV T66T 0 0.008 0 0 0 3 0 0 0 0 0 0 20.3 149348 chr19 4171445 4171445 C T rs143545033 CREB3L3 Stop gain R312X 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 149349 chr19 51918088 51918088 C G rs145650287 SIGLEC10 Synonymous SNV L477L 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 9.153 149350 chr18 28666624 28666624 C A rs199682735 DSC2 Nonsynonymous SNV G286V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.52 149351 chr11 17653364 17653364 C T rs536891314 OTOG Synonymous SNV T2288T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 149352 chr8 100155321 100155321 G A rs372593334 VPS13B Nonsynonymous SNV V591M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.2 149353 chr11 18765598 18765598 G C PTPN5 Synonymous SNV L58L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.1 149354 chr19 55592770 55592770 G A rs200396239 EPS8L1 Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.738 149355 chr17 47230269 47230269 G T B4GALNT2 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 149356 chr8 109483085 109483085 T C EMC2 Nonsynonymous SNV I171T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.457 149357 chr17 48202298 48202298 G C rs115616382 SAMD14 Nonsynonymous SNV P9R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 149358 chr19 4538522 4538522 C T rs772672074 LRG1 Synonymous SNV S158S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.14 149359 chr19 45556130 45556130 C T rs11667851 CLASRP Synonymous SNV T93T 0.001 0.003 0.014 1 1 1 0.003 4 0 0 0 0 15.06 149360 chr11 2167641 2167641 C T rs17880206 IGF2-AS 0 0 0.037 0 0 0 0 11 0 0 0 0 7.591 149361 chr17 49279043 49279043 G A MBTD1 Synonymous SNV D378D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.779 149362 chr19 5594164 5594169 GCTCCC - SAFB2 R647_E648del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 149363 chr19 56002167 56002167 C A rs760822047 SSC5D Nonsynonymous SNV H205Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.42 149364 chr19 56002403 56002403 G A rs752190323 SSC5D Nonsynonymous SNV R284Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.8 149365 chr19 46274901 46274901 G A DMPK Nonsynonymous SNV R420W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 149366 chr11 2604727 2604727 C T rs140019543 KCNQ1 Synonymous SNV I328I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.66 149367 chr8 124373862 124373862 A G ATAD2 Synonymous SNV S358S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.662 149368 chr19 3595076 3595076 - A rs34885751 TBXA2R 0.006 0 0 2 7 0 0.005 0 1 0 0 0 149369 chr19 56390202 56390202 C G rs139521551 NLRP4 Synonymous SNV L913L 0.009 0.01 0 0 11 4 0 0 0 0 0 0 8.218 149370 chr19 36231975 36231975 T C rs574371081 IGFLR1 Nonsynonymous SNV N36S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.108 149371 chr19 54485725 54485725 C G CACNG8 Synonymous SNV A300A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 149372 chr19 4548089 4548089 G A rs112105291 SEMA6B Synonymous SNV C517C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.76 149373 chr17 60749131 60749131 C T rs35060355 MRC2 Synonymous SNV G413G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 149374 chr11 33891027 33891027 - CGCCGC rs914065446 LMO2 G37_A38insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 149375 chr17 60765878 60765878 C G rs141422219 MRC2 Nonsynonymous SNV S1026R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 14.38 149376 chr19 46278261 46278261 G A rs200491028 DMPK Nonsynonymous SNV P304L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.26 149377 chr19 55054799 55054799 G T KIR3DX1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.325 149378 chr19 57743539 57743539 G - rs760310744 AURKC E82Kfs*37 0.001 0.005 0 0 1 2 0 0 0 0 0 0 149379 chr11 44069703 44069703 C A rs370566395 ACCSL Synonymous SNV A39A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 149380 chr19 58117400 58117400 G A rs566890006 ZNF530 Synonymous SNV T169T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.494 149381 chr11 4626652 4626652 C T TRIM68 Nonsynonymous SNV S28N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 149382 chr11 4703741 4703741 G T rs144303719 OR51E2 Synonymous SNV A67A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 3.477 149383 chr11 5067900 5067900 C T rs142724471 OR52J3 Synonymous SNV L49L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.479 149384 chr17 79518134 79518134 G A FAAP100 Nonsynonymous SNV A129V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.76 149385 chr11 47422504 47422542 CTGAAGGGCAGAAGGGAACTGTCCTTCAGCCAGAGCTGG - MIR4487 0 0 0.014 0 0 0 0 4 0 0 0 0 149386 chr17 71253939 71253939 T G rs756759660 CPSF4L Nonsynonymous SNV E63A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.62 149387 chr17 71427647 71427647 C T rs376227214 SDK2 Nonsynonymous SNV V492I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.3 149388 chr19 51871718 51871718 G A CLDND2 Synonymous SNV H38H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 149389 chr19 51875644 51875644 T - NKG7 D49Afs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 149390 chr19 57176452 57176452 - CT rs201395145 ZNF835 Frameshift insertion A39Rfs*116 0.001 0 0 0 1 0 0 0 0 0 0 0 149391 chr17 72916094 72916094 G C rs142486910 USH1G Nonsynonymous SNV D176E 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.807 149392 chr19 57642394 57642394 T C rs144679292 USP29 Nonsynonymous SNV L784P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.175 149393 chr9 710915 710915 A T rs61737971 KANK1 Nonsynonymous SNV D50V 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Likely benign 26 149394 chr17 73274254 73274254 G A rs200276538 SLC25A19 Nonsynonymous SNV P208S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.32 149395 chr19 50755956 50755956 G A rs201827463 MYH14 Nonsynonymous SNV A623T 0 0.005 0 0 0 2 0 0 0 0 0 0 18.58 149396 chr19 5131224 5131224 C A rs766843850 KDM4B Nonsynonymous SNV L485M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.44 149397 chr19 8620636 8620636 C T rs73501540 MYO1F Synonymous SNV Q16Q 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Benign 12.34 149398 chr11 6648767 6648767 G A rs148791938 DCHS1 Nonsynonymous SNV L1835F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.2 149399 chr19 10574495 10574495 C T rs2230188 PDE4A Synonymous SNV A351A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 19.04 149400 chr19 10574549 10574549 C T rs2230189 PDE4A Synonymous SNV R369R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 15.21 149401 chr19 58864476 58864476 A G rs145851378 A1BG Nonsynonymous SNV L53P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 149402 chr19 58908183 58908183 C T rs750143998 RNF225 Nonsynonymous SNV P243S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.08 149403 chr19 51837126 51837126 A G rs200741101 VSIG10L Synonymous SNV H831H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.041 149404 chr19 10742741 10742741 G A rs146127348 SLC44A2 Synonymous SNV A242A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.14 149405 chr19 5892978 5892978 C T NDUFA11 Nonsynonymous SNV A213T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.193 149406 chr19 11034239 11034239 T G rs146974463 YIPF2 Synonymous SNV R217R 0.007 0.01 0.007 0 8 4 0 2 0 0 0 0 1.41 149407 chr19 11097217 11097217 T C rs62639303 SMARCA4 Synonymous SNV P236P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign/Likely benign 0.114 149408 chr19 53856807 53856807 G A rs547402353 ZNF845 Nonsynonymous SNV R960H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.96 149409 chr17 76354838 76354838 G C SOCS3 Synonymous SNV P113P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.215 149410 chr19 11258720 11258720 C T rs200584784 SPC24 Nonsynonymous SNV E127K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.5 149411 chr19 54561819 54561819 G A rs746329632 VSTM1 Synonymous SNV H32H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.875 149412 chr19 11486464 11486464 C T rs11542550 SWSAP1 Synonymous SNV H175H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.811 149413 chr19 11658653 11658653 C T rs114917375 CNN1 Synonymous SNV Y144Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.03 149414 chr19 757405 757405 G A rs920970624 MISP Synonymous SNV R153R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.381 149415 chr17 77808240 77808240 - GTG rs562956582 CBX4 H400_A401insH 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 149416 chr19 55048152 55048152 T C rs780603967 KIR3DX1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.1 149417 chr19 55177294 55177294 C T rs145072607 LILRB4 Synonymous SNV I291I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.41 149418 chr19 12246720 12246720 C A ZNF20 0 0.003 0 0 0 1 0 0 0 0 0 0 8.718 149419 chr9 71650773 71650773 C T FXN Synonymous SNV T25T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.61 149420 chr19 48183903 48183903 C T rs372970799 BICRA Synonymous SNV N492N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.18 149421 chr19 13934165 13934165 C G rs756971838 ZSWIM4 Nonsynonymous SNV P572R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 149422 chr9 78789975 78789975 G A rs139361606 PCSK5 Synonymous SNV P610P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 11.48 149423 chr19 8400131 8400131 G A KANK3 Synonymous SNV L194L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 149424 chr17 78931504 78931504 G A rs150362357 RPTOR Nonsynonymous SNV D993N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 149425 chr19 9090104 9090104 T C MUC16 Nonsynonymous SNV T571A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.281 149426 chr17 79202807 79202807 G A TEPSIN Nonsynonymous SNV P500L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.87 149427 chr19 15514383 15514383 C T rs202099656 AKAP8L Nonsynonymous SNV D89N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 149428 chr18 5891599 5891599 A T TMEM200C Nonsynonymous SNV I155N 0 0 0 1 0 0 0.003 0 0 0 0 0 25 149429 chr1 103444956 103444956 A G COL11A1 Synonymous SNV N748N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.439 149430 chr17 80039510 80039510 G A rs141141382 FASN Nonsynonymous SNV R2125W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 25.1 149431 chr17 80684446 80684446 A G rs142036101 FN3KRP Nonsynonymous SNV R187G 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 25.4 149432 chr19 16514557 16514557 T A rs369030341 EPS15L1 Nonsynonymous SNV D538V 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 23 149433 chr11 58346949 58346949 C G rs750256934 ZFP91 Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 149434 chr19 16678885 16678885 G A rs148792893 SLC35E1 Synonymous SNV A196A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.96 149435 chr19 16860548 16860548 G A rs16981402 NWD1 Synonymous SNV K159K 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 4.087 149436 chr19 55857920 55857920 C T rs143875189 KMT5C Nonsynonymous SNV R254W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 149437 chr11 58949917 58949917 G A rs200340632 DTX4 Nonsynonymous SNV R200Q 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 25 149438 chr19 17062924 17062924 G A CPAMD8 Nonsynonymous SNV S788F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 149439 chr19 9074013 9074013 G C MUC16 Nonsynonymous SNV S4478C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 149440 chr19 56011593 56011593 C T rs185224189 SSC5D Stop gain R706X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 149441 chr19 17628119 17628119 C T rs201908078 PGLS Nonsynonymous SNV P140L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 149442 chr19 1787157 1787157 A T rs200106210 ATP8B3 Nonsynonymous SNV L996H 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 24.2 149443 chr19 607984 607984 G A rs3752158 HCN2 Synonymous SNV L413L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 8.361 149444 chr19 9869406 9869406 G A ZNF846 Nonsynonymous SNV S116F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.95 149445 chr19 6383349 6383349 C G rs374186493 GTF2F1 Nonsynonymous SNV D219H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25 149446 chr18 21523890 21523890 G A rs370470226 LAMA3 Synonymous SNV L1390L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.15 149447 chr19 5696753 5696753 G A rs147468253 LONP1 Synonymous SNV G371G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.574 149448 chr11 61724891 61724891 C A rs200162075 BEST1 Nonsynonymous SNV H117Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Uncertain significance 0.71 149449 chr9 116176059 116176059 G A rs369075240 C9orf43 Nonsynonymous SNV V58M 0 0 0 3 0 0 0.008 0 0 0 0 0 19.66 149450 chr19 57765216 57765216 C T rs757983410 ZNF805 Synonymous SNV Y210Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.38 149451 chr18 28588033 28588033 C T DSC3 Nonsynonymous SNV E538K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 149452 chr19 19230840 19230840 G A rs144608866 TMEM161A Nonsynonymous SNV L344F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 149453 chr19 813673 813673 C T PLPPR3 Nonsynonymous SNV A380T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29 149454 chr19 19774443 19774443 C A rs367595809 ATP13A1 Synonymous SNV V11V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 13.85 149455 chr9 124855581 124855581 G C rs774086642 TTLL11 Synonymous SNV A39A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.507 149456 chr1 110883354 110883354 C T rs375310850 RBM15 Nonsynonymous SNV P443S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.75 149457 chr19 54299230 54299230 A G rs769476370 NLRP12 Nonsynonymous SNV L937P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 149458 chr19 54314372 54314372 G A rs758607519 NLRP12 Nonsynonymous SNV R181W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.88 149459 chr1 1226313 1226313 G A rs373426509 SCNN1D Synonymous SNV P652P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.154 149460 chr11 64109093 64109093 T A rs766805380 CCDC88B Nonsynonymous SNV V185E 0 0 0.003 0 0 0 0 1 0 0 0 0 22 149461 chr1 12721835 12721835 G A rs559483525 AADACL4 Nonsynonymous SNV R140Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.46 149462 chr9 125391523 125391523 G C rs140947515 OR1B1 Nonsynonymous SNV R98G 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.022 149463 chr19 6411830 6411830 C T rs113579663 LOC390877 Synonymous SNV D89D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.769 149464 chr1 13933719 13933719 G C rs199714092 PDPN Nonsynonymous SNV G116A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.001 149465 chr1 114515698 114515698 C T HIPK1 Nonsynonymous SNV A672V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 149466 chr19 11304078 11304078 G A rs374890373 KANK2 Synonymous SNV L226L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.406 149467 chr11 55322500 55322500 C T rs141941152 OR4C15 Nonsynonymous SNV L186F 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 25.4 149468 chr9 126143769 126143769 A C rs761567995 DENND1A Nonsynonymous SNV L1002R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.12 149469 chr19 11465313 11465313 A T rs746923821 CCDC159 Nonsynonymous SNV D277V 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 23.3 149470 chr19 3094654 3094654 C T GNA11 Nonsynonymous SNV T2I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.1 149471 chr19 12060148 12060148 G A rs765415938 ZNF700 Nonsynonymous SNV G440S 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 13.9 149472 chr19 33106615 33106615 G A rs144164018 ANKRD27 Synonymous SNV P708P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.461 149473 chr11 65211735 65211746 TGTGTGTGTGTG - rs566595632 NEAT1 0 0 0.048 0 0 0 0 14 0 0 6 0 149474 chr19 12977531 12977531 C T rs148936558 MAST1 Synonymous SNV P698P 0.009 0.013 0 2 11 5 0.005 0 0 0 0 0 21.1 149475 chr19 13007801 13007801 C T GCDH Synonymous SNV H310H 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 4.421 149476 chr1 150778652 150778652 T C rs201446793 CTSK Nonsynonymous SNV I57V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.37 149477 chr1 151384177 151384177 C T rs72996036 POGZ Nonsynonymous SNV R522Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.7 149478 chr19 3492371 3492371 G A rs1034143712 DOHH Nonsynonymous SNV R160C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 149479 chr11 6578709 6578709 G A rs145925138 DNHD1 Synonymous SNV E2728E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.323 149480 chr9 131397168 131397168 C T rs775718174 WDR34 Synonymous SNV T338T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.35 149481 chr1 152082912 152082912 C G TCHH Nonsynonymous SNV E927D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.409 149482 chr11 66391887 66391887 C T rs778556714 RBM14 Synonymous SNV G180G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.312 149483 chr11 66411376 66411393 GCAGCAGCCGCTGCTGCT - rs759186690 RBM14-RBM4, RBM4 A265_A270del 0 0 0.003 0 0 0 0 1 0 0 0 0 149484 chr11 6740779 6740779 T C rs183085854 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.067 149485 chr19 36048661 36048661 C T rs139397080 ATP4A Nonsynonymous SNV S530N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.9 149486 chr1 153701188 153701188 G A rs150819290 INTS3 Synonymous SNV A26A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 18.17 149487 chr1 153740258 153740258 C T rs746975219 INTS3 Synonymous SNV D733D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 149488 chr11 68177524 68177524 C T rs148550774 LRP5 Nonsynonymous SNV A164V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 149489 chr11 68337331 68337331 A T PPP6R3 Nonsynonymous SNV Q253L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 149490 chr11 68664071 68664071 C A MRPL21 Nonsynonymous SNV S103I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 149491 chr11 68671259 68671259 G A MRPL21 Nonsynonymous SNV T7M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 149492 chr11 68822801 68822801 C T rs200172503 TPCN2 Nonsynonymous SNV A137V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.541 149493 chr19 57133114 57133114 G C rs374454585 ZNF71 Synonymous SNV T153T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.138 149494 chr11 6953869 6953869 C T rs141947188 ZNF215 Synonymous SNV L122L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 6.347 149495 chr11 56380432 56380432 G A rs753038973 OR5M1 Nonsynonymous SNV P183S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 149496 chr1 150476837 150476837 G A rs755842593 TARS2 Synonymous SNV L418L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.084 149497 chr9 136219594 136219594 G A rs62637580 SURF1 Synonymous SNV F72F 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 12.33 149498 chr19 3778576 3778576 C T rs756824162 MATK Synonymous SNV S364S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.55 149499 chr1 151820732 151820732 G A rs372391484 THEM5 Synonymous SNV D167D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 149500 chr9 136660805 136660805 T C rs746521974 VAV2 Synonymous SNV A357A 0 0 0 2 0 0 0.005 0 0 0 0 0 8.138 149501 chr19 17547613 17547613 C A TMEM221 Nonsynonymous SNV R177L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 149502 chr1 157556244 157556244 C G FCRL4 Synonymous SNV R283R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 149503 chr19 10273374 10273374 T G rs143287044 DNMT1 Nonsynonymous SNV Q310P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.852 149504 chr1 158449839 158449839 A G rs150276430 OR10R2 Nonsynonymous SNV I58V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.55 149505 chr1 153923821 153923821 C G CRTC2 Nonsynonymous SNV G440A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 149506 chr1 158687843 158687843 C T OR6K3 Synonymous SNV Q21Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.724 149507 chr19 18376374 18376374 C T rs139682639 IQCN Nonsynonymous SNV R659Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.465 149508 chr11 77387966 77387966 C A RSF1 Nonsynonymous SNV R1071I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 149509 chr11 77387973 77387973 C A RSF1 Stop gain E1069X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 149510 chr19 18376541 18376541 G A rs773193829 IQCN Synonymous SNV A603A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.103 149511 chr19 18545747 18545747 C T rs149546342 ISYNA1 Synonymous SNV E423E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.895 149512 chr9 140034175 140034175 C T rs200529044 GRIN1 Synonymous SNV C79C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 16.5 149513 chr1 11579477 11579477 A G DISP3 Nonsynonymous SNV E652G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.29 149514 chr9 140139851 140139851 T G rs758512057 FAM166A Nonsynonymous SNV K144Q 0 0 0 2 0 0 0.005 0 0 0 0 0 21.8 149515 chr9 140140245 140140245 C T rs368787356 FAM166A Synonymous SNV T39T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.24 149516 chr9 140160411 140160411 G A rs756900212 NELFB Nonsynonymous SNV G375S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.82 149517 chr1 117236766 117236766 T C rs17036171 C1orf137 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 0.021 149518 chr19 758067 758067 G A rs761925407 MISP Nonsynonymous SNV R374Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.985 149519 chr19 20807917 20807917 G T ZNF626 Nonsynonymous SNV P256T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 149520 chr1 117576549 117576549 C T rs751035877 CD101 Synonymous SNV F964F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.68 149521 chr1 160145936 160145981 ACATCCCCGAGATCACGCCCTTCCTGATGTTCATCATCCTCGGTAT - ATP1A4 I790Pfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 149522 chr1 160461126 160461126 C T SLAMF6 Nonsynonymous SNV M34I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.5 149523 chr11 61118472 61118472 G A rs114061739 CYB561A3 Synonymous SNV T232T 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 3.082 149524 chr1 157738274 157738274 G T FCRL2 Synonymous SNV G271G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.212 149525 chr19 14093029 14093029 C T rs138345093 RFX1 Synonymous SNV T175T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.25 149526 chr19 14218523 14218523 C T rs567406683 PRKACA Nonsynonymous SNV V92M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.16 149527 chr19 4302372 4302372 G A rs370177144 TMIGD2 Nonsynonymous SNV P4L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.002 149528 chr11 62554230 62554230 T G TAF6L Nonsynonymous SNV L444R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 29.1 149529 chr11 92570856 92570856 G T rs201449521 FAT3 Nonsynonymous SNV A3418S 0 0 0.007 0 0 0 0 2 0 0 0 0 31 149530 chr1 112020613 112020613 C T rs369165184 C1orf162 Synonymous SNV S83S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.603 149531 chr19 30101337 30101337 G A rs1047470546 POP4 Nonsynonymous SNV E28K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 149532 chr19 15166067 15166067 G A rs148526551 CASP14 Nonsynonymous SNV V168I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.317 149533 chr11 94760032 94760037 TGGTCG - rs781821299 KDM4E R443_G444del 0 0 0.003 0 0 0 0 1 0 0 0 0 149534 chr1 115261309 115261309 C T rs768428623 CSDE1 Synonymous SNV K727K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.8 149535 chr1 168074093 168074093 A T rs200635937 GPR161 Nonsynonymous SNV L16Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely pathogenic 24.2 149536 chr1 115829221 115829221 G T rs766082334 NGF Nonsynonymous SNV Q66K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.8 149537 chr1 149858652 149858652 G A H2AC20 Nonsynonymous SNV R43Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 149538 chr1 117564281 117564281 C T rs142818844 CD101 Nonsynonymous SNV R702W 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 149539 chr11 64863923 64863923 C G rs772067181 VPS51 Nonsynonymous SNV H67Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 149540 chr1 151789185 151789185 G A rs142141845 RORC Nonsynonymous SNV H64Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 27.3 149541 chr1 162326851 162326851 C T rs77473623 NOS1AP Synonymous SNV S283S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 10.86 149542 chr12 104336553 104336553 G A rs765949732 HSP90B1 Nonsynonymous SNV M541I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.94 149543 chr12 107113746 107113746 G A rs769410368 RFX4 Nonsynonymous SNV E289K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 149544 chr1 153947213 153947213 T C rs765980485 JTB Nonsynonymous SNV Q128R 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23.9 149545 chr12 108954894 108954894 C G rs139501952 SART3 Nonsynonymous SNV E13Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 149546 chr1 178780452 178780452 A G rs773127077 RALGPS2 Synonymous SNV V100V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 149547 chr10 30728157 30728157 A G MAP3K8 Nonsynonymous SNV H97R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.041 149548 chr11 67132691 67132691 C T rs760645462 CLCF1 Synonymous SNV S188S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.9 149549 chr1 145592762 145592762 G - rs775151955 POLR3C S525Vfs*20 0 0.003 0 0 0 1 0 0 0 0 0 0 149550 chr19 17571404 17571404 T C rs201992877 NXNL1 Nonsynonymous SNV K92R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.132 149551 chr1 150280652 150280652 A G rs11558190 MRPS21 Nonsynonymous SNV Q85R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 16.07 149552 chr19 17886821 17886821 A G FCHO1 Nonsynonymous SNV S295G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 149553 chr19 18119380 18119380 G A rs138536093 ARRDC2 Synonymous SNV T87T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.64 149554 chr12 112308111 112308111 A C rs199721843 MAPKAPK5 Nonsynonymous SNV I75L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 20.6 149555 chr12 113312971 113312971 G T rs2189473 RPH3A Nonsynonymous SNV Q226H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.73 149556 chr1 151337690 151337690 G C rs146726959 SELENBP1 Nonsynonymous SNV S309C 0 0.008 0 0 0 3 0 0 0 0 0 0 2.35 149557 chr19 47876020 47876020 T C rs755019006 DHX34 Nonsynonymous SNV L601P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 149558 chr1 181745355 181745355 G A rs371470806 CACNA1E Nonsynonymous SNV R1734Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 149559 chr1 10711096 10711096 C T rs769660473 CASZ1 Synonymous SNV P906P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.385 149560 chr19 47987587 47987587 G A rs150630987 NAPA-AS1 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 9.105 149561 chr1 183072551 183072551 C T rs144662217 LAMC1 Synonymous SNV D169D 0.009 0.016 0.003 1 11 6 0.003 1 0 0 0 0 10.35 149562 chr1 152083101 152083101 T C rs372498882 TCHH Synonymous SNV R864R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.759 149563 chr11 73744425 73744425 T C C2CD3 Synonymous SNV S2260S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.43 149564 chr1 185143745 185143745 A G rs138263470 SWT1 Nonsynonymous SNV I156V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.405 149565 chr11 74547503 74547503 C T rs777508944 RNF169 Nonsynonymous SNV R619C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 149566 chr11 75141551 75141551 C A rs146939053 KLHL35 Nonsynonymous SNV D42Y 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 34 149567 chr1 186158875 186158875 G A rs145772673 HMCN1 Synonymous SNV V5591V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Uncertain significance 11.08 149568 chr19 20229944 20229944 - A rs782156630 ZNF90 Frameshift insertion I529Dfs*12 0.001 0 0.003 0 1 0 0 1 0 0 0 0 149569 chr1 17570690 17570690 C T rs199892095 PADI1 Synonymous SNV N648N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.54 149570 chr1 158299225 158299225 G A rs145185568 CD1B Nonsynonymous SNV A274V 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 11.32 149571 chr1 19209814 19209814 C T rs138334153 ALDH4A1 Nonsynonymous SNV V128M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.6 149572 chr1 111061210 111061210 G A rs868838468 KCNA10 Nonsynonymous SNV P67L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.423 149573 chr19 2917704 2917704 A C ZNF57 Nonsynonymous SNV K330T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 149574 chr19 31039010 31039010 A C rs768923292 ZNF536 Nonsynonymous SNV K828N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.92 149575 chr11 86663087 86663087 T C FZD4 Synonymous SNV T237T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.871 149576 chr19 3179289 3179289 G A rs201317155 S1PR4 Nonsynonymous SNV G167S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.472 149577 chr1 200945910 200945910 G A rs61740477 KIF21B Synonymous SNV Y1466Y 0.001 0 0.01 0 1 0 0 3 0 0 0 0 11.76 149578 chr1 18152396 18152396 C T rs116745746 ACTL8 Synonymous SNV H161H 0.003 0.01 0 0 4 4 0 0 0 0 0 0 7.295 149579 chr1 200959305 200959305 G A rs2297910 KIF21B Synonymous SNV T997T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 12.6 149580 chr1 200971353 200971353 A G rs61740482 KIF21B Synonymous SNV D446D 0.001 0 0.01 0 1 0 0 3 0 0 0 0 7.965 149581 chr19 50322482 50322482 C T rs74863643 MED25 Synonymous SNV P78P 0.005 0.013 0 0 6 5 0 0 0 1 0 0 Likely benign 15.61 149582 chr19 33130313 33130313 G A rs200620408 ANKRD27 Synonymous SNV F355F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.7 149583 chr19 33202831 33202831 A G NUDT19 Nonsynonymous SNV K366E 0.003 0 0 0 3 0 0 0 0 0 0 0 14.55 149584 chr10 71562416 71562416 C A rs202030509 COL13A1 Synonymous SNV R79R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 22.6 149585 chr11 99715879 99715879 T C rs754546596 CNTN5 Synonymous SNV D80D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.417 149586 chr19 34012666 34012666 T C rs752145794 PEPD Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 17.18 149587 chr1 156815045 156815045 C A rs375340161 INSRR Nonsynonymous SNV G754W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 149588 chr1 186287713 186287713 G A rs937633558 TPR Synonymous SNV T2229T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.59 149589 chr11 107833010 107833010 G A rs779291941 RAB39A Nonsynonymous SNV G189D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 149590 chr1 158669736 158669736 C T rs532035184 OR6K2 Nonsynonymous SNV R236H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.437 149591 chr1 158988191 158988191 A G rs186236996 IFI16 Nonsynonymous SNV H185R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.39 149592 chr1 159166868 159166868 C G rs34501755 CADM3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 4.27 149593 chr12 28603315 28603315 G A rs778227431 CCDC91 Synonymous SNV R134R 0 0 0.007 0 0 0 0 2 0 0 0 0 13.48 149594 chr12 29669360 29669360 A G TMTC1 Synonymous SNV I743I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.626 149595 chr12 3126634 3126634 C T TEAD4 Nonsynonymous SNV T13M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 149596 chr1 161254246 161254246 A G rs41270859 PCP4L1 Nonsynonymous SNV K61R 0.01 0.01 0.014 3 12 4 0.008 4 0 0 0 0 20.7 149597 chr1 201832537 201832537 T G rs116281825 MIR6739 0.012 0.008 0.01 3 14 3 0.008 3 0 0 0 0 4.921 149598 chr1 152083073 152083073 A G TCHH Nonsynonymous SNV W874R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 149599 chr1 215808007 215808007 G A rs56038610 USH2A Nonsynonymous SNV R5031W 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Benign/Likely benign 23 149600 chr10 95353767 95353767 T C rs34812400 RBP4 Synonymous SNV T127T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 5.782 149601 chr19 53761773 53761773 C T rs140171943 VN1R2 Nonsynonymous SNV R49C 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 10.87 149602 chr10 97779510 97779510 T C rs9943393 CC2D2B Nonsynonymous SNV Y237H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 25.5 149603 chr1 204588136 204588136 G A rs745491741 LRRN2 Nonsynonymous SNV R329C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 149604 chr19 39416905 39416905 C T SARS2 Synonymous SNV E101E 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 10.92 149605 chr12 49153047 49153047 T G TEX49 Nonsynonymous SNV N45K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 149606 chr1 155792204 155792204 C T rs752388079 GON4L Nonsynonymous SNV R254Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 149607 chr1 207222471 207222471 T C rs139358134 YOD1 Nonsynonymous SNV N314S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 7.673 149608 chr1 173884052 173884052 A G rs531137446 SERPINC1 Nonsynonymous SNV V16A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Uncertain significance 0.628 149609 chr10 104414902 104414902 C T rs757125381 TRIM8 Synonymous SNV D212D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.7 149610 chr19 55710026 55710026 G - PTPRH L381Sfs*94 0 0.003 0 0 0 1 0 0 0 0 0 0 149611 chr1 19181203 19181203 C G rs977653883 TAS1R2 Nonsynonymous SNV R254P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.34 149612 chr1 212957827 212957827 T C rs34978978 NSL1 Nonsynonymous SNV I108V 0.003 0.005 0.003 0 4 2 0 1 1 1 0 0 23.7 149613 chr12 52760970 52760970 C T rs746139185 KRT85 Nonsynonymous SNV G74S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 149614 chr12 527666 527666 C G rs866668426 CCDC77 Nonsynonymous SNV L61V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 149615 chr19 56125165 56125165 - GCCCCCCCCCCC ZNF865 A61delinsGPPPP 0 0.003 0 0 0 1 0 0 0 0 0 0 149616 chr19 42912543 42912543 C A rs752082960 LOC101930071 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.6 149617 chr1 228506756 228506756 C T rs181568906 OBSCN Nonsynonymous SNV S4768L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 1.909 149618 chr1 180461418 180461418 C A ACBD6 Nonsynonymous SNV G124C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 149619 chr1 228557909 228557909 G A rs772284770 OBSCN Synonymous SNV A6712A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.173 149620 chr19 56718525 56718525 T A rs139308373 ZSCAN5C Nonsynonymous SNV V161E 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 12.84 149621 chr19 50783330 50783330 G A MYH14 Nonsynonymous SNV A1316T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 149622 chr1 225565007 225565007 T C DNAH14 Synonymous SNV D4195D 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.981 149623 chr1 20499317 20499317 G T rs768928368 PLA2G2C Nonsynonymous SNV Q83K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 149624 chr12 7045915 7045915 - CAG ATN1 Q502_H503insQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 149625 chr1 236979764 236979764 G A rs61736441 MTR Nonsynonymous SNV V229I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 149626 chr1 228473779 228473779 G A rs749967842 OBSCN Nonsynonymous SNV G3002D 0.001 0.005 0 0 1 2 0 0 0 1 0 0 20.3 149627 chr1 228474684 228474684 G A rs765619610 OBSCN Nonsynonymous SNV G3163E 0.001 0.005 0 0 1 2 0 0 0 1 0 0 25.5 149628 chr1 228528934 228528934 G A rs780444152 OBSCN Nonsynonymous SNV V5946M 0.001 0.005 0 0 1 2 0 0 0 1 0 0 25.8 149629 chr1 228558873 228558873 C T rs373415899 OBSCN Synonymous SNV N6798N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 9.613 149630 chr1 237875072 237875072 G A rs397516497 RYR2 Nonsynonymous SNV V3420I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.7 149631 chr12 57493569 57493569 A G rs374296365 STAT6 Synonymous SNV H465H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.182 149632 chr19 45855903 45855903 C T rs374133290 ERCC2 Nonsynonymous SNV R636Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 34 149633 chr10 129903592 129903592 G A rs45549235 MKI67 Nonsynonymous SNV A1811V 0.003 0.003 0.014 3 4 1 0.008 4 0 0 0 0 15.75 149634 chr1 167096608 167096608 G A rs200160038 DUSP27 Nonsynonymous SNV R747H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 17.2 149635 chr10 129906903 129906903 C T rs3740424 MKI67 Synonymous SNV T707T 0.003 0.003 0.014 3 4 1 0.008 4 0 0 0 0 12.52 149636 chr19 47920211 47920211 G A MEIS3 Synonymous SNV L65L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.65 149637 chr1 247051532 247051532 C T AHCTF1 Nonsynonymous SNV V758I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.5 149638 chr19 7174637 7174637 G A rs56066516 INSR Synonymous SNV C360C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 8.459 149639 chr19 7533815 7533815 C T rs368207061 ARHGEF18 Synonymous SNV P953P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.41 149640 chr19 756976 756976 G A MISP Synonymous SNV L10L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.724 149641 chr19 7600877 7600877 T G rs1053077306 PNPLA6 Nonsynonymous SNV L68R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.1 149642 chr19 7605859 7605859 C T rs886741386 PNPLA6 Synonymous SNV S282S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.47 149643 chr12 69964246 69964246 G C FRS2 Nonsynonymous SNV D68H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 149644 chr19 8006001 8006001 C T rs750582664 TIMM44 Nonsynonymous SNV G43R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.032 149645 chr1 237711849 237711849 C A RYR2 Synonymous SNV R1009R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.2 149646 chr19 49425067 49425147 CCCCCCACCTCCCACAGGCTGTGCTGCACATGGAGCAGCGGAAGCAGCAGCAGCAGCAGCAGCAAGGCCACAAGGCCCCGG - NUCB1 A392Lfs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 149647 chr1 248285796 248285796 C T rs538322061 OR2M1P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.87 149648 chr1 2430251 2430251 C T rs370579115 PLCH2 Synonymous SNV R779R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 17.46 149649 chr12 16043590 16043590 C A rs144953681 STRAP Nonsynonymous SNV N130K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 149650 chr1 17949537 17949537 C T rs35659971 ARHGEF10L Nonsynonymous SNV A134V 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 8.29 149651 chr1 248685178 248685178 T G rs750595533 OR2G6 Synonymous SNV V77V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.515 149652 chr1 26369097 26369097 G A rs201442115 SLC30A2 Synonymous SNV I176I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 149653 chr19 50357740 50357740 G T PTOV1 Synonymous SNV V83V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 149654 chr12 23998921 23998921 C T rs202009064 SOX5 Synonymous SNV P149P 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign 16.3 149655 chr1 26628196 26628196 A G rs372063829 UBXN11 Nonsynonymous SNV I30T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 149656 chr12 27107122 27107122 G A rs140186991 FGFR1OP2 Nonsynonymous SNV D11N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 149657 chr12 8995925 8995926 AG - rs143864957 A2ML1 S482Pfs*2 0.002 0 0.003 0 2 0 0 1 0 0 0 0 149658 chr1 247769692 247769692 G A rs138441168 OR2G3 Nonsynonymous SNV D269N 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 18.46 149659 chr1 247901988 247901988 G - rs568673953 OR14K1 H25Mfs*7 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 149660 chr1 27684947 27684947 G A MAP3K6 Synonymous SNV R905R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.803 149661 chr12 31600505 31600505 T C rs374898622 DENND5B Nonsynonymous SNV I610V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.62 149662 chr1 32676873 32676873 - TAT rs773967365 DCDC2B Y90_L91insY 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 149663 chr1 33354763 33354763 G A rs779976786 HPCA Synonymous SNV A88A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.543 149664 chr19 52000192 52000192 A G rs144032115 SIGLEC12 Nonsynonymous SNV V396A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.001 149665 chr1 248185429 248185429 C T rs112619079 OR2L5 Synonymous SNV F60F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 149666 chr13 101755544 101755544 G A rs760941305 NALCN Synonymous SNV S983S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 13.22 149667 chr1 248202382 248202382 G A rs6658161 OR2L2 Synonymous SNV K271K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.31 149668 chr1 3413551 3413551 C T rs370356299 MEGF6 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 149669 chr1 3413866 3413866 C T rs763219701 MEGF6 Nonsynonymous SNV A1138T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 149670 chr1 248262774 248262774 A G rs142935398 OR2L13 Nonsynonymous SNV I33V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 149671 chr1 10155527 10155527 C T rs781272283 UBE4B Nonsynonymous SNV H74Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.81 149672 chr13 111155271 111155271 T C rs7338575 COL4A2-AS1 0 0 0.017 0 0 0 0 5 0 0 2 0 1.865 149673 chr19 56953861 56953861 C T rs141841096 ZNF667 Nonsynonymous SNV G168E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 149674 chr1 10431278 10431278 G T rs142714491 KIF1B Nonsynonymous SNV C1589F 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 34 149675 chr13 111335467 111335467 C T rs140082252 CARS2 Nonsynonymous SNV D196N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 25.1 149676 chr13 111927956 111927956 C T rs771908591 ARHGEF7 Synonymous SNV G215G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 149677 chr1 38463541 38463541 G A rs139509332 FHL3 Nonsynonymous SNV T60M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 149678 chr1 231408111 231408111 A G GNPAT Nonsynonymous SNV I465V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 149679 chr1 108697681 108697681 G A rs756120780 SLC25A24 Nonsynonymous SNV S249L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 149680 chr1 23233346 23233346 G A rs28936395 EPHB2 Nonsynonymous SNV D620N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 29.1 149681 chr19 537046 537046 C T rs139014138 CDC34 Synonymous SNV N132N 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 8.863 149682 chr1 40767520 40767520 C T rs142151614 COL9A2 Nonsynonymous SNV G612R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 149683 chr1 228289138 228289138 C T rs758895719 C1orf35 Synonymous SNV K190K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 149684 chr1 235658082 235658082 C T rs142756842 B3GALNT2 Nonsynonymous SNV V57M 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 149685 chr12 51054096 51054098 CCT - rs771404002 DIP2B P142del 0.003 0.008 0 0 3 3 0 0 0 0 0 0 149686 chr1 228456464 228456464 G A rs371852931 OBSCN Nonsynonymous SNV E1699K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23 149687 chr11 2946317 2946317 C T rs141445711 SLC22A18 Nonsynonymous SNV R291C 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 27.7 149688 chr19 54973289 54973289 G A LENG9 Nonsynonymous SNV A496V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.53 149689 chr13 28979945 28979945 C T rs765194215 FLT1 Nonsynonymous SNV R508H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 149690 chr19 5867128 5867128 G A rs145974666 FUT5 Synonymous SNV T203T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.5 149691 chr19 54974754 54974754 C G rs75242867 LENG9 Nonsynonymous SNV G8R 0.011 0.003 0.003 0 13 1 0 1 0 0 0 0 21.2 149692 chr1 33237341 33237341 A C KIAA1522 Nonsynonymous SNV K795T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.37 149693 chr1 113245278 113245278 G A RHOC Synonymous SNV H105H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.218 149694 chr1 230914746 230914746 C A rs28359684 CAPN9 Nonsynonymous SNV H264Q 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 21.9 149695 chr1 230914789 230914789 G A rs16852652 CAPN9 Nonsynonymous SNV E279K 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 13.26 149696 chr1 114522186 114522186 G A OLFML3 Synonymous SNV S16S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.71 149697 chr1 233802497 233802497 G A rs143945189 KCNK1 Nonsynonymous SNV R171H 0.009 0.016 0.02 2 10 6 0.005 6 0 1 0 0 23.6 149698 chr13 39453010 39453010 G A rs116099212 FREM2 Nonsynonymous SNV V2968I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign/Likely benign 11.32 149699 chr13 39587920 39587920 G C rs151038147 PROSER1 Nonsynonymous SNV S468C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 149700 chr13 43788225 43788225 C T rs747212614 ENOX1 Nonsynonymous SNV M646I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.4 149701 chr1 39906781 39906781 G A MACF1 Nonsynonymous SNV R4126K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.18 149702 chr1 40734117 40734117 G C rs762352668 ZMPSTE24 Synonymous SNV L128L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.59 149703 chr1 120166454 120166454 G C ZNF697 Nonsynonymous SNV A171G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.372 149704 chr1 49208397 49208397 G A rs377372975 BEND5 Synonymous SNV P95P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.58 149705 chr13 48664556 48664556 - A rs769110681 MED4 0 0 0.014 1 0 0 0.003 4 0 0 0 0 149706 chr1 42045709 42045709 G A rs148285753 HIVEP3 Nonsynonymous SNV T1587M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 149707 chr1 50884703 50884703 G A rs563215151 DMRTA2 Synonymous SNV A421A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.36 149708 chr1 42046386 42046386 G C rs753050470 HIVEP3 Synonymous SNV P1361P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 149709 chr1 50885087 50885087 G C DMRTA2 Nonsynonymous SNV D293E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.866 149710 chr19 5700830 5700830 G A rs570309365 LONP1 Synonymous SNV Y296Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.544 149711 chr1 53676367 53676367 A - rs767119836 CPT2 N341Ifs*79 0.001 0.003 0 0 1 1 0 0 0 0 0 0 149712 chr1 53676368 53676368 A T rs778946896 CPT2 Nonsynonymous SNV N341I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.308 149713 chr1 53676370 53676370 A G rs772541350 CPT2 Nonsynonymous SNV M342V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.82 149714 chr1 24434537 24434537 G T rs190949233 MYOM3 Nonsynonymous SNV A63E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.098 149715 chr1 248185494 248185494 C T OR2L5 Nonsynonymous SNV S82F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.787 149716 chr13 92101064 92101064 G A rs773909450 GPC5 Synonymous SNV R71R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.006 149717 chr13 96282320 96282320 C T rs200033665 DZIP1 Nonsynonymous SNV V245I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.323 149718 chr1 150418796 150418796 C T rs16836943 RPRD2 Synonymous SNV N237N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.84 149719 chr1 150460348 150460348 C T rs2275245 TARS2 Synonymous SNV T27T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.64 149720 chr1 47015638 47015638 C T rs61734408 KNCN Nonsynonymous SNV R63Q 0.002 0.01 0.007 0 2 4 0 2 0 0 0 0 19.9 149721 chr1 150531078 150531078 A G rs74124919 ADAMTSL4 Nonsynonymous SNV M838V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 25.1 149722 chr12 66610970 66610970 A G rs139342884 IRAK3 Nonsynonymous SNV K142R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 149723 chr19 8999409 8999409 T C rs796460354 MUC16 Nonsynonymous SNV D13589G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 149724 chr19 8999411 8999411 C T rs796627618 MUC16 Synonymous SNV R13588R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.37 149725 chr19 8999422 8999422 T G rs796543936 MUC16 Nonsynonymous SNV T13585P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 149726 chr1 6169970 6169970 G A rs149601798 CHD5 Synonymous SNV P1821P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.25 149727 chr1 52841179 52841179 G T rs34644009 ORC1 Synonymous SNV S742S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 9.824 149728 chr14 101280892 101280892 A G rs118055959 MIR2392 0 0 0.024 0 0 0 0 7 0 0 0 0 0.609 149729 chr19 58880274 58880274 T G ZNF837 Synonymous SNV P142P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.821 149730 chr14 102786231 102786231 G A rs112795025 ZNF839 Synonymous SNV Q43Q 0.002 0 0.01 1 2 0 0.003 3 1 0 0 0 9.24 149731 chr11 6498450 6498450 C T ARFIP2 Nonsynonymous SNV A222T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 24.5 149732 chr19 603797 603797 G C rs773962337 HCN2 Nonsynonymous SNV V296L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 149733 chr14 104710453 104710453 C T rs149241413 LINC02691 0 0 0.007 0 0 0 0 2 0 0 0 0 9.296 149734 chr1 22915678 22915678 A G rs150196251 EPHA8 Nonsynonymous SNV N432D 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 149735 chr1 25228747 25228747 C T rs142303780 RUNX3 Nonsynonymous SNV A372T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.16 149736 chr1 60392236 60392236 G A rs2229189 CYP2J2 Synonymous SNV F61F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.36 149737 chr1 26109143 26109143 C T rs200005708 MAN1C1 Nonsynonymous SNV P573L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 149738 chr1 34015872 34015872 C T rs149704396 CSMD2 Nonsynonymous SNV R2797Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 149739 chr14 20711005 20711005 G A rs142720326 OR11H4 Nonsynonymous SNV V19M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 149740 chr14 20897390 20897390 G A rs200147184 KLHL33 Nonsynonymous SNV P407L 0 0 0.003 0 0 0 0 1 0 0 0 0 17 149741 chr1 39950374 39950374 C T MACF1 Synonymous SNV A5336A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.93 149742 chr1 3331154 3331154 C T rs201338158 PRDM16 Synonymous SNV P878P 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 12.98 149743 chr1 103573680 103573680 C T rs770851098 COL11A1 Nonsynonymous SNV V19I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.631 149744 chr14 23572915 23572915 C T rs112707515 LMLN2 Nonsynonymous SNV R191Q 0 0 0.031 0 0 0 0 9 0 0 0 0 6.201 149745 chr1 109242185 109242185 G A rs200491160 PRPF38B Nonsynonymous SNV R250K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.52 149746 chr1 35227150 35227150 G A rs773421859 GJB4 Nonsynonymous SNV E99K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.308 149747 chr1 3548055 3548055 G A rs373776138 WRAP73 Synonymous SNV C405C 0 0.005 0 0 0 2 0 0 0 0 0 0 10.55 149748 chr1 43282121 43282121 T C rs201807646 SVBP Nonsynonymous SNV K32R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.65 149749 chr1 43282125 43282125 G C rs199812799 SVBP Nonsynonymous SNV L31V 0 0.003 0 0 0 1 0 0 0 0 0 0 24 149750 chr1 43408984 43408984 C T rs34025424 SLC2A1 Synonymous SNV T9T 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 149751 chr1 36552875 36552877 AGA - rs765539008 TEKT2 K274del 0 0.003 0 0 0 1 0 0 0 0 0 0 149752 chr11 17615689 17615689 T A OTOG Nonsynonymous SNV F1140L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.3 149753 chr14 24774877 24774877 C T rs138992080 CIDEB Nonsynonymous SNV E208K 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 22.5 149754 chr1 9164626 9164626 C T rs183530083 GPR157 Nonsynonymous SNV R287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 149755 chr1 110050180 110050180 C T rs150743133 AMIGO1 Nonsynonymous SNV G452D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 19.58 149756 chr14 24970818 24970818 G A rs772731718 LOC101927045 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 149757 chr11 18637520 18637520 T C rs117446236 SPTY2D1 Nonsynonymous SNV I101V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.002 149758 chr1 1597380 1597380 C T rs371652439 SLC35E2B Synonymous SNV S353S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.23 149759 chr1 38512189 38512189 G A POU3F1 Nonsynonymous SNV T76M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 149760 chr1 160065007 160065007 C G IGSF8 Nonsynonymous SNV V32L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.26 149761 chr1 160456519 160456519 G A rs774399372 SLAMF6 Nonsynonymous SNV T215I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.2 149762 chr1 16054769 16054769 G A rs747333897 PLEKHM2 Nonsynonymous SNV R613Q 0 0.005 0 3 0 2 0.008 0 0 0 0 0 23.5 149763 chr19 9063738 9063738 A G MUC16 Nonsynonymous SNV I7903T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.199 149764 chr14 45374715 45374717 TTG - rs538021904 C14orf28 L299del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 149765 chr12 122962408 122962408 G A rs375394115 ZCCHC8 Nonsynonymous SNV A365V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.456 149766 chr1 91845709 91845709 A G rs374059393 HFM1 Synonymous SNV L320L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 149767 chr1 43665118 43665118 G A rs201249188 CFAP57 Nonsynonymous SNV V496I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.28 149768 chr1 92762982 92762982 A C rs142032681 GLMN Nonsynonymous SNV I48M 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 24.1 149769 chr1 43892083 43892083 G A rs769864658 SZT2 Nonsynonymous SNV D1030N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.72 149770 chr14 52383138 52383138 T C rs151056512 LOC102723604 0 0 0.027 0 0 0 0 8 0 0 0 0 15.44 149771 chr14 52384093 52384093 G C rs2275459 LOC102723604 0 0 0.034 0 0 0 0 10 0 0 0 0 2.557 149772 chr1 54666258 54666258 C G rs769374285 MRPL37 Synonymous SNV L114L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.06 149773 chr1 16767342 16767342 G C rs774615036 NECAP2 Nonsynonymous SNV G29A 0 0.005 0 3 0 2 0.008 0 0 0 0 0 23.1 149774 chr19 9639710 9639710 T C rs45489098 ZNF426 Synonymous SNV V299V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 1.002 149775 chr20 17511699 17511699 G C rs879429773 BFSP1 Synonymous SNV V92V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.49 149776 chr1 46497101 46497101 G C MAST2 Nonsynonymous SNV E1011Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 149777 chr1 171492483 171492483 A G PRRC2C Synonymous SNV E317E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.629 149778 chr1 52498467 52498467 G A rs755556446 KTI12 Nonsynonymous SNV R323C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27 149779 chr1 52937766 52937766 C A rs749213533 TUT4 Synonymous SNV T912T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 149780 chr20 17616272 17616272 T C rs771915277 RRBP1 Nonsynonymous SNV N792S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 149781 chr1 53446175 53446175 C A rs368088577 SCP2 Nonsynonymous SNV N267K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27.1 149782 chr1 53541549 53541549 C T rs76250115 PODN Nonsynonymous SNV R163C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 34 149783 chr12 133351852 133351852 A T GOLGA3 Nonsynonymous SNV S1340T 0.003 0 0 0 4 0 0 0 0 0 0 0 5.927 149784 chr20 18143551 18143551 A T rs200183010 KAT14 Nonsynonymous SNV T545S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.457 149785 chr1 109803697 109803697 G A rs115077620 CELSR2 Nonsynonymous SNV R1331H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 34 149786 chr1 109815465 109815465 G A rs41279718 CELSR2 Synonymous SNV T2718T 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign 13.03 149787 chr14 65198102 65198102 C T PLEKHG3 Synonymous SNV N291N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 149788 chr1 53986401 53986401 G A rs137982477 GLIS1 Synonymous SNV T369T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.69 149789 chr1 110038311 110038311 A G rs202045101 CYB561D1 Nonsynonymous SNV S101G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.747 149790 chr1 54426146 54426146 A G rs200487538 LRRC42 Synonymous SNV S241S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.07 149791 chr20 2290957 2290957 C T rs376947483 TGM3 Synonymous SNV S105S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 149792 chr14 70252994 70252994 A G rs199961853 SLC10A1 Synonymous SNV C129C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.592 149793 chr1 32834141 32834141 C T rs147779640 BSDC1 Synonymous SNV T294T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 149794 chr14 72941354 72941354 G C RGS6 Nonsynonymous SNV E179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 149795 chr20 25013007 25013007 G A rs536791134 ACSS1 Synonymous SNV G22G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.736 149796 chr14 75558058 75558058 C T rs114347531 NEK9 Nonsynonymous SNV R798Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 23.9 149797 chr20 278818 278818 C T rs372545531 ZCCHC3 Synonymous SNV D197D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.586 149798 chr1 113240711 113240711 G A rs151095542 MOV10 Nonsynonymous SNV R765H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 21 149799 chr1 153751330 153751330 C T rs140437865 SLC27A3 Nonsynonymous SNV R539C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 35 149800 chr20 34090747 34090747 G A rs114197898 CEP250 Nonsynonymous SNV R885Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 9.743 149801 chr1 63064436 63064436 T C rs111414963 ANGPTL3 Synonymous SNV L189L 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Likely benign 6.416 149802 chr13 39435638 39435638 C T rs200338297 FREM2 Synonymous SNV G2530G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 15.24 149803 chr20 36760886 36760886 A G rs139696620 TGM2 Synonymous SNV L463L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.041 149804 chr20 33508388 33508388 C T rs762024810 ACSS2 Nonsynonymous SNV T245I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 149805 chr1 86921058 86921058 C A rs142900280 CLCA2 Nonsynonymous SNV P894T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.192 149806 chr1 6662288 6662288 G A rs369534954 KLHL21 Nonsynonymous SNV A197V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.6 149807 chr1 155744930 155744930 G A GON4L Nonsynonymous SNV A738V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.5 149808 chr1 155823542 155823542 T C GON4L Synonymous SNV T10T 0 0 0 3 0 0 0.008 0 0 0 0 0 5.339 149809 chr20 40049374 40049374 C T rs768276692 CHD6 Synonymous SNV L1967L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.29 149810 chr1 1232004 1232004 G A rs149746396 ACAP3 Nonsynonymous SNV R380C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 149811 chr1 19499501 19499501 G A rs144843681 UBR4 Synonymous SNV A1126A 0.003 0.005 0 5 3 2 0.013 0 0 0 0 1 Benign 11.68 149812 chr20 43804568 43804568 G A PI3 Nonsynonymous SNV G49E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.9 149813 chr1 900397 900397 C T rs111560052 KLHL17 Synonymous SNV N585N 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 11.16 149814 chr1 901922 901922 G C rs62639980 PLEKHN1 Nonsynonymous SNV S4T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21.2 149815 chr1 908929 908929 C T rs142080242 PLEKHN1 Nonsynonymous SNV S413L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.358 149816 chr20 44506981 44506981 A G rs200330798 ZSWIM3 Nonsynonymous SNV N595S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 149817 chr1 915264 915264 G A rs113243246 PERM1 Synonymous SNV S382S 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 0.702 149818 chr1 46086064 46086064 G A rs577480529 CCDC17 Synonymous SNV P584P 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 9.101 149819 chr20 45801424 45801424 C A rs201557595 EYA2 Synonymous SNV G369G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 149820 chr20 39831670 39831670 G A rs145104983 ZHX3 Synonymous SNV S629S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.728 149821 chr20 42744874 42744874 C T rs762695696 JPH2 Nonsynonymous SNV E481K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.313 149822 chr15 100672282 100672282 C T rs61754841 ADAMTS17 Nonsynonymous SNV A551T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.46 149823 chr15 100672348 100672348 C T rs753474247 ADAMTS17 Nonsynonymous SNV A529T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 149824 chr1 156894486 156894486 C T rs145905660 LRRC71 Nonsynonymous SNV P164L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 18.89 149825 chr1 8404041 8404041 G A rs764567517 SLC45A1 Nonsynonymous SNV E739K 0 0.005 0 0 0 2 0 0 0 0 0 0 22.9 149826 chr1 151112122 151112122 G A rs777272882 SEMA6C Nonsynonymous SNV P97S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 149827 chr1 157739715 157739715 G T FCRL2 Nonsynonymous SNV A179E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 149828 chr1 151263255 151263255 C T rs376641944 ZNF687 Nonsynonymous SNV P1095L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 149829 chr13 98116471 98116471 G T rs137972195 RAP2A Synonymous SNV V109V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.388 149830 chr20 44515244 44515244 C T rs146744825 SPATA25 Nonsynonymous SNV R199Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.013 149831 chr15 21937916 21937916 G A LOC646214 0 0 0.003 0 0 0 0 1 0 0 0 0 4.825 149832 chr20 44588013 44588013 G A rs771030476 ZNF335 Nonsynonymous SNV R694C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 149833 chr15 25334883 25334883 G A rs141657087 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 4.52 149834 chr15 25344742 25344742 A G rs545743846 SNORD116-26 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 149835 chr15 25436895 25436895 C T SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 5.857 149836 chr15 25453054 25453054 G A rs7182251 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.387 149837 chr15 26147585 26147585 G T rs979178592 LINC02346 0 0 0.003 0 0 0 0 1 0 0 0 0 0.8 149838 chr20 1293322 1293322 C T rs41280300 SDCBP2 Nonsynonymous SNV G72R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 32 149839 chr15 27777944 27777944 C T rs757325899 GABRG3 Synonymous SNV L441L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 149840 chr1 158813912 158813912 G A rs201658999 MNDA Synonymous SNV P190P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.288 149841 chr1 203311624 203311624 T C FMOD 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 149842 chr20 49197854 49197854 G A rs16995304 PTPN1 Nonsynonymous SNV G308S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.447 149843 chr1 159799824 159799825 CT - rs771996640 SLAMF8 L71Vfs*92 0.001 0 0 1 1 0 0.003 0 0 0 0 0 149844 chr13 109793116 109793116 C A MYO16 Nonsynonymous SNV P1519Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 149845 chr13 110823040 110823040 C T rs746802701 COL4A1 Nonsynonymous SNV S1199N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 149846 chr20 16360427 16360427 C T rs148869074 KIF16B Synonymous SNV Q740Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.898 149847 chr1 92649842 92649842 G A rs41286793 KIAA1107 Synonymous SNV S1265S 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 7.137 149848 chr1 162337054 162337054 C T rs750724443 NOS1AP Nonsynonymous SNV P145S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.798 149849 chr1 94668200 94668200 C A rs140877322 ARHGAP29 Nonsynonymous SNV R284L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 149850 chr1 15656048 15656048 - T rs758193165 FHAD1-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 149851 chr20 61637831 61637836 CGCCGC - rs1019982118 BHLHE23 R98_R99del 0.001 0 0 0 1 0 0 0 0 0 0 0 149852 chr15 42160751 42160751 C T rs139560192 SPTBN5 Nonsynonymous SNV V1968M 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 0.178 149853 chr15 42362207 42362207 T C rs143102617 PLA2G4D Synonymous SNV P710P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.009 149854 chr20 61340976 61340976 C G rs770559370 NTSR1 Synonymous SNV A139A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.07 149855 chr20 61459301 61459301 C T rs201808719 COL9A3 Synonymous SNV P291P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 16.61 149856 chr11 63533413 63533413 T C C11orf95 Nonsynonymous SNV D168G 0.007 0 0 3 8 0 0.008 0 0 0 0 0 13.26 149857 chr11 63990903 63990903 G A rs368565732 FERMT3 Nonsynonymous SNV R644H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 23 149858 chr15 43027534 43027534 C T rs144448301 CDAN1 Nonsynonymous SNV V328I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 29.6 149859 chr1 170985360 170985360 C T rs147848744 MROH9 Synonymous SNV D597D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.88 149860 chr20 61981022 61981022 C T rs752289948 CHRNA4 Nonsynonymous SNV E581K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 149861 chr20 62364688 62364688 C T rs140325582 ZGPAT Synonymous SNV H234H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.285 149862 chr20 62598841 62598841 C T rs145795341 ZNF512B Nonsynonymous SNV G53S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.937 149863 chr20 62657327 62657327 C T rs151332876 PRPF6 Synonymous SNV A648A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.77 149864 chr20 62729972 62729972 C T rs372237260 OPRL1 Synonymous SNV N306N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.853 149865 chr20 62229208 62229208 G A rs201568990 GMEB2 Synonymous SNV D121D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.651 149866 chr11 64337212 64337212 C G rs77086875 SLC22A11 Nonsynonymous SNV L383V 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 15.28 149867 chr15 45389868 45389868 G A rs138743322 DUOX2 Nonsynonymous SNV R1213C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.6 149868 chr15 45426437 45426437 C T rs149322655 DUOX1 Synonymous SNV S79S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.55 149869 chr11 64514809 64514809 G A rs140102591 PYGM Synonymous SNV Y645Y 0.007 0 0 3 8 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.646 149870 chr1 172635019 172635019 C - FASLG Q237Rfs*56 0 0 0 1 0 0 0.003 0 0 0 0 0 149871 chr20 9346120 9346120 G A rs142392531 PLCB4 Synonymous SNV L154L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.78 149872 chr1 22041883 22041883 A G rs77218913 USP48 Synonymous SNV H587H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.02 149873 chr15 48060932 48060932 G A rs377297904 SEMA6D Synonymous SNV S640S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 12.75 149874 chr11 64677310 64677310 G A rs200244363 ATG2A Synonymous SNV A650A 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 12.28 149875 chr20 62493710 62493710 G A rs199801697 ABHD16B Nonsynonymous SNV D273N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 149876 chr21 16337046 16337049 TTCT - rs776126740 NRIP1 K1155Nfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 149877 chr20 3562783 3562783 C T rs369252988 ATRN Nonsynonymous SNV S733F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.59 149878 chr20 24950952 24950952 G C APMAP Synonymous SNV S198S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7 149879 chr14 23858217 23858217 G A rs141062252 MYH6 Synonymous SNV C1342C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.55 149880 chr11 65305470 65305470 C A SCYL1 Synonymous SNV S671S 0.007 0 0 3 8 0 0.008 0 0 0 0 0 13.46 149881 chr21 15599467 15599467 C G RBM11 Nonsynonymous SNV H240Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.645 149882 chr20 3653438 3653438 G A rs750245649 ADAM33 Nonsynonymous SNV P414L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.021 149883 chr20 25478962 25478962 G A rs41274450 NINL Synonymous SNV D351D 0.002 0.01 0 0 2 4 0 0 0 0 0 0 8.432 149884 chr1 177911053 177911053 T C CRYZL2P-SEC16B, SEC16B Synonymous SNV L327L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.046 149885 chr11 66332108 66332108 G A rs759093942 CTSF Synonymous SNV H414H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.2 149886 chr1 180772705 180772705 C T rs763808022 XPR1 Synonymous SNV F135F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.46 149887 chr15 63926056 63926056 A T HERC1 Synonymous SNV S4228S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.684 149888 chr14 32319385 32319385 T G rs780774581 NUBPL Nonsynonymous SNV F109C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.6 149889 chr20 43532666 43532666 T C rs141268199 YWHAB Synonymous SNV A111A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 10.43 149890 chr15 64792233 64792233 T C rs61910735 ZNF609 Synonymous SNV D205D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.106 149891 chr1 181752856 181752856 G T CACNA1E Synonymous SNV T1783T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.971 149892 chr15 64967519 64967519 G T rs77465580 ZNF609 Synonymous SNV L822L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.027 149893 chr20 32436412 32436412 C A CHMP4B Synonymous SNV G110G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 149894 chr1 1696775 1696775 G A rs748296163 NADK Nonsynonymous SNV S24L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 149895 chr21 35497745 35497745 G A rs144539781 MRPS6 Synonymous SNV R50R 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 8.067 149896 chr1 1696776 1696776 A G NADK Nonsynonymous SNV S24P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.955 149897 chr20 33508358 33508358 T C rs59126805 ACSS2 Nonsynonymous SNV V235A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.78 149898 chr21 37617980 37617980 C T rs150884749 DOP1B Synonymous SNV P1234P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.866 149899 chr1 171510753 171510753 A T rs142821409 PRRC2C Nonsynonymous SNV E1381V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.97 149900 chr15 71535330 71535330 C T rs145825356 THSD4 Synonymous SNV H269H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.826 149901 chr1 94512602 94512602 C T rs58331765 ABCA4 Nonsynonymous SNV V931M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 149902 chr21 41137575 41137575 G T IGSF5 Nonsynonymous SNV A72S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.545 149903 chr15 73994686 73994686 G A rs200006585 CD276 Nonsynonymous SNV G57D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 149904 chr1 17548882 17548882 G - rs765877988 PADI1 G64Afs*7 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 149905 chr11 75298426 75298426 G A rs905807064 MAP6 Nonsynonymous SNV P707L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.5 149906 chr15 74565180 74565180 C T rs773075943 CCDC33 Nonsynonymous SNV P236L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 149907 chr1 22987666 22987666 C T rs149612866 C1QB Synonymous SNV N183N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 0.975 149908 chr15 75119188 75119188 G A rs199532260 CPLX3 Synonymous SNV Q48Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 149909 chr20 41076863 41076863 G A rs758233888 PTPRT Synonymous SNV Y519Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.428 149910 chr15 75503399 75503399 G A rs149175372 C15orf39 Nonsynonymous SNV R1029K 0.004 0.013 0.003 2 5 5 0.005 1 0 0 0 0 13.7 149911 chr1 179033226 179033226 T C rs145807542 FAM20B Synonymous SNV L247L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.187 149912 chr14 55836551 55836551 T G ATG14 Nonsynonymous SNV E422A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24.2 149913 chr14 57092138 57092138 G A rs760922912 TMEM260 Synonymous SNV K479K 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 11.09 149914 chr15 77425611 77425611 C T rs201213328 PEAK1 Synonymous SNV P1271P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 149915 chr11 85361318 85361320 AAT - rs779189085 TMEM126A N8del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 149916 chr1 235647754 235647754 C G rs143983025 B3GALNT2 Nonsynonymous SNV V147L 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 21 149917 chr1 236148688 236148688 T A rs755132453 NID1 Nonsynonymous SNV I1016F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 149918 chr20 58452566 58452566 C T rs61730343 SYCP2 Synonymous SNV P1008P 0.004 0.008 0 0 5 3 0 0 0 0 0 0 8.148 149919 chr11 92714913 92714913 A G rs368218569 MTNR1B Nonsynonymous SNV N175S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 149920 chr21 45978495 45978495 C T KRTAP10-3 Nonsynonymous SNV S35N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.59 149921 chr20 44685018 44685018 C A rs778476586 SLC12A5 Nonsynonymous SNV H998Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.117 149922 chr20 17639984 17639984 T C rs570914870 RRBP1 Nonsynonymous SNV K390R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.597 149923 chr20 17640865 17640865 A G rs148403840 RRBP1 Synonymous SNV L96L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.003 149924 chr20 4705467 4705467 C T rs149555026 PRND Synonymous SNV H90H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.02 149925 chr20 47262427 47262427 G A rs138869885 PREX1 Synonymous SNV D1158D 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 5.79 149926 chr14 65008341 65008341 C T HSPA2 Synonymous SNV P258P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.575 149927 chr20 47989527 47989527 C T rs34280195 KCNB1 Nonsynonymous SNV S857N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 15.53 149928 chr1 186643596 186643596 A T rs760249208 PTGS2 Synonymous SNV V568V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.215 149929 chr1 203472822 203472822 C T rs56219555 OPTC Nonsynonymous SNV R325W 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 35 149930 chr15 86123965 86123965 A G AKAP13 Nonsynonymous SNV N889S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 149931 chr11 102585413 102585413 T C rs200336086 MMP8 Nonsynonymous SNV Y355C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 149932 chr14 67940176 67940176 G A rs147441533 TMEM229B Synonymous SNV G199G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.55 149933 chr21 47831758 47831758 C T rs184420466 PCNT Nonsynonymous SNV A1806V 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 1 Benign/Likely benign 7.069 149934 chr11 103130658 103130658 C T rs201758605 DYNC2H1 Synonymous SNV S3549S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.46 149935 chr1 205126422 205126422 A G rs773358240 DSTYK Synonymous SNV D777D 0 0 0 2 0 0 0.005 0 0 0 0 0 4.169 149936 chr1 193038341 193038341 T A rs375613734 RO60 Nonsynonymous SNV L53M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 149937 chr22 19213033 19213033 C T rs1060374 CLTCL1 Nonsynonymous SNV E691K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 149938 chr20 61944532 61944532 G A COL20A1 Nonsynonymous SNV D714N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.949 149939 chr22 19882976 19882976 G T rs35695986 TXNRD2 Synonymous SNV T301T 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 4.869 149940 chr11 104868172 104868172 C G rs45458695 CASP5 Nonsynonymous SNV E240Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.001 149941 chr22 20050979 20050979 G A rs73389746 TANGO2 Nonsynonymous SNV V144M 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 6.349 149942 chr20 62227000 62227000 C T rs367998927 GMEB2 Synonymous SNV S194S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.33 149943 chr1 201044667 201044667 A G rs144590408 CACNA1S Nonsynonymous SNV M635T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 149944 chr20 57016076 57016076 G A rs143144050 VAPB Nonsynonymous SNV M170I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 22.9 149945 chr20 57036552 57036552 G A rs191876578 APCDD1L Nonsynonymous SNV P267L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28 149946 chr15 90210380 90210380 C T PLIN1 Synonymous SNV L332L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.284 149947 chr15 90260179 90260179 T C rs752991652 WDR93 Nonsynonymous SNV M265T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 149948 chr14 74975348 74975348 G A rs45468895 LTBP2 Nonsynonymous SNV A1204V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 149949 chr15 90801371 90801371 C T rs915335137 TTLL13P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 149950 chr15 91422116 91422116 G A rs148427298 FURIN Synonymous SNV T321T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.354 149951 chr14 77580030 77580030 C T CIPC Nonsynonymous SNV T190I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 149952 chr15 91448844 91448844 C T rs147359069 MAN2A2 Synonymous SNV N142N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.715 149953 chr22 24583228 24583228 C T rs770587946 SUSD2 Synonymous SNV A567A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.76 149954 chr22 24909346 24909346 G A rs145749836 UPB1 Nonsynonymous SNV E172K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.46 149955 chr20 35421970 35421970 C T rs191200006 SOGA1 Synonymous SNV T1505T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.49 149956 chr1 248512083 248512083 A G rs767593528 OR14C36 Nonsynonymous SNV N3D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 149957 chr22 26351252 26351252 G T rs141663304 MYO18B Synonymous SNV R2027R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.22 149958 chr22 26351253 26351253 C T rs150530817 MYO18B Nonsynonymous SNV R2028C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 149959 chr1 24995940 24995940 G A SRRM1 Nonsynonymous SNV R604Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 149960 chr1 22047655 22047655 C T rs201791208 USP48 Nonsynonymous SNV D523N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 149961 chr14 92102772 92102772 G C rs143268698 CATSPERB Nonsynonymous SNV S580C 0.002 0 0 0 2 0 0 0 0 0 0 0 13.83 149962 chr14 92505939 92505939 A T rs377257603 TRIP11 Nonsynonymous SNV S31T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 149963 chr1 26581885 26581885 A G rs370764786 CEP85 Synonymous SNV L93L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.738 149964 chr1 27240377 27240377 C T rs746657025 NR0B2 Nonsynonymous SNV A19T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.98 149965 chr16 15917189 15917189 T C MYH11 Nonsynonymous SNV Y142C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 149966 chr1 209602713 209602713 C G MIR205HG 0.001 0 0 0 1 0 0 0 0 0 0 0 8.48 149967 chr20 43743718 43743720 TCC - WFDC5 R2del 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 149968 chr20 896574 896574 T C rs116327782 ANGPT4 Nonsynonymous SNV Q95R 0 0.005 0 0 0 2 0 0 0 0 0 0 7.846 149969 chr1 209778919 209778919 G A rs144255822 CAMK1G Nonsynonymous SNV R112Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 149970 chr16 1748888 1748888 G A rs34233915 JPT2 Synonymous SNV Q154Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.589 149971 chr1 29585141 29585141 C T rs144272817 PTPRU Synonymous SNV D110D 0 0.008 0 0 0 3 0 0 0 0 0 0 14.84 149972 chr21 42598195 42598195 A G rs758429022 BACE2 Synonymous SNV L105L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.76 149973 chr22 37333941 37333941 G A rs138676111 CSF2RB Nonsynonymous SNV M697I 0.003 0.01 0 1 4 4 0.003 0 0 1 0 0 0.011 149974 chr16 2015121 2015121 C T rs1133099 SNHG9 0 0 0.007 0 0 0 0 2 0 0 1 0 7.108 149975 chr16 2015477 2015477 C T rs1054003 SNHG9 0 0 0.034 0 0 0 0 10 0 0 0 0 4.546 149976 chr1 32495938 32495938 A G KHDRBS1 Nonsynonymous SNV D141G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.37 149977 chr1 212799450 212799450 G A FAM71A Nonsynonymous SNV E411K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.128 149978 chr1 213415177 213415177 A C rs141637651 RPS6KC1 Synonymous SNV S321S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.005 149979 chr1 34174737 34174737 A G rs10914765 CSMD2 Synonymous SNV I1176I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.2 149980 chr21 33727758 33727758 G A rs75189665 URB1 Synonymous SNV R702R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.15 149981 chr16 2112989 2112989 G A rs137854154 TSC2 Nonsynonymous SNV A260T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 18.97 149982 chr21 34924028 34924028 A T SON Nonsynonymous SNV M831L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 149983 chr16 21327273 21327273 G A rs12446322 CRYM-AS1 0 0 0.041 0 0 0 0 12 0 0 0 0 15.38 149984 chr21 34927187 34927187 A C SON Synonymous SNV R1884R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.111 149985 chr21 35247779 35247779 G A rs761560907 ITSN1 Nonsynonymous SNV R1427Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 149986 chr1 22167695 22167695 C T rs201958429 HSPG2 Nonsynonymous SNV G3139R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 149987 chr1 228522224 228522224 C T OBSCN Nonsynonymous SNV P5356S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25 149988 chr16 2283445 2283445 G A rs59784157 E4F1 Nonsynonymous SNV V355I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.668 149989 chr22 38122414 38122415 AG - rs750744696 TRIOBP R1285Tfs*95 0.001 0 0 0 1 0 0 0 0 0 0 0 149990 chr16 23491121 23491121 A C rs200560596 GGA2 Nonsynonymous SNV V365G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 149991 chr16 25043413 25043413 T C rs908001276 LOC554206 0 0 0.003 0 0 0 0 1 0 0 0 0 6.064 149992 chr21 38604711 38604711 C T rs138125105 VPS26C Synonymous SNV T33T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.96 149993 chr22 44282314 44282314 G A rs768114170 PNPLA5 Nonsynonymous SNV P159L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 149994 chr22 44283489 44283489 T C rs756361673 PNPLA5 Nonsynonymous SNV R135G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 149995 chr21 40552341 40552341 A G rs78317549 PSMG1 Star tloss M88T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.7 149996 chr1 231056299 231056299 - G TTC13 Frameshift insertion L594Pfs*17 0 0 0 1 0 0 0.003 0 0 0 0 0 149997 chr12 4768255 4768255 T C NDUFA9 Nonsynonymous SNV L155P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 149998 chr20 60905593 60905593 G T rs777262295 LAMA5 Nonsynonymous SNV H1310Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 149999 chr1 43212925 43212925 C T rs137853890 P3H1 Synonymous SNV A691A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely pathogenic 13.76 150000 chr1 43719778 43719778 G A rs41269537 CFAP57 Synonymous SNV Q1256Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.585 150001 chr20 60989078 60989078 G C rs749050845 RBBP8NL Nonsynonymous SNV D443E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 150002 chr22 50659050 50659050 G A rs142182100 TUBGCP6 Synonymous SNV S1246S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.671 150003 chr22 50694529 50694529 G A rs2230823 MAPK12 Nonsynonymous SNV R192C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 150004 chr20 61525450 61525450 G C rs201113903 DIDO1 Nonsynonymous SNV S890C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 150005 chr22 50720036 50720036 G A rs754714515 PLXNB2 Nonsynonymous SNV R1161W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 150006 chr15 40094018 40094018 T G GPR176 Nonsynonymous SNV Y243S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 150007 chr1 237758875 237758875 T G RYR2 Nonsynonymous SNV L1505R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 150008 chr12 7045910 7045912 CAG - ATN1 Q502del 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 150009 chr22 19211477 19211477 C G rs962888194 CLTCL1 Nonsynonymous SNV E743D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.2 150010 chr22 20102217 20102217 G A rs143646154 MIR6816 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.069 150011 chr15 41194921 41194921 A G rs148134088 VPS18 Synonymous SNV E768E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.862 150012 chr22 46627780 46627780 C T rs1042311 PPARA Nonsynonymous SNV A268V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 150013 chr22 46654454 46654454 C T rs147041875 PKDREJ Nonsynonymous SNV S1589N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.11 150014 chr22 46656064 46656064 C T rs144805092 PKDREJ Synonymous SNV K1052K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.038 150015 chr22 21991296 21991296 T G CCDC116 Nonsynonymous SNV D593E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.068 150016 chr15 42145083 42145083 A G rs200995898 SPTBN5 Nonsynonymous SNV L3429P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 150017 chr22 47086007 47086007 C G rs148346577 CERK Nonsynonymous SNV G475R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 150018 chr1 244641251 244641251 G A rs200697066 CATSPERE Nonsynonymous SNV A78T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.012 150019 chr22 50181087 50181087 G A rs766018593 BRD1 Synonymous SNV C931C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.538 150020 chr21 47565469 47565469 C T rs376986639 FTCD Synonymous SNV V374V 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 13.2 150021 chr16 4516392 4516392 G A rs35601948 NMRAL1 Synonymous SNV L97L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.705 150022 chr16 4563021 4563021 G T rs73496707 CDIP1 Nonsynonymous SNV P96T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 150023 chr1 52257300 52257300 G A rs139651343 NRDC Synonymous SNV S970S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.76 150024 chr16 4626173 4626173 G A rs74005364 C16orf96 Synonymous SNV L564L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.41 150025 chr22 50435752 50435752 G A rs145996075 IL17REL Nonsynonymous SNV P324L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 150026 chr2 10794660 10794660 G A NOL10 Nonsynonymous SNV T281I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 150027 chr22 50671868 50671868 G A rs371279130 TUBGCP6 Synonymous SNV L331L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.086 150028 chr15 43023161 43023161 C T rs61747153 CDAN1 Nonsynonymous SNV G657S 0.004 0 0.014 0 5 0 0 4 0 0 0 0 Benign/Likely benign 23 150029 chr15 43720277 43720277 G A rs61757241 TP53BP1 Synonymous SNV V1255V 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 14.17 150030 chr15 43724532 43724532 T C rs3803339 TP53BP1 Nonsynonymous SNV I1179V 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 1.442 150031 chr22 51012789 51012789 G A rs756433718 CPT1B Synonymous SNV T281T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.81 150032 chr1 248020849 248020849 G T rs539377117 TRIM58 Stop gain E101X 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 35 150033 chr22 29706940 29706940 C A GAS2L1 Nonsynonymous SNV T321N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.637 150034 chr15 43817805 43817807 GGT - rs148851436 MAP1A V1380del 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 150035 chr15 43821417 43821417 C T rs3803333 MAP1A Synonymous SNV P2582P 0.009 0.003 0.01 2 11 1 0.005 3 0 0 0 0 11.38 150036 chr12 13716373 13716373 C T rs141844705 GRIN2B Nonsynonymous SNV A1267T 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 11.14 150037 chr22 19956140 19956140 G A rs999446749 COMT Nonsynonymous SNV V183M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 150038 chr1 2434061 2434061 G A rs530942332 PLCH2 Nonsynonymous SNV A1031T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.775 150039 chr21 34399326 34399326 C T rs371616082 OLIG2 Synonymous SNV S52S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.3 150040 chr21 34399385 34399385 G T rs145905387 OLIG2 Nonsynonymous SNV G72V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.1 150041 chr15 45724278 45724278 - A rs557217388 C15orf48 Frameshift insertion N47Kfs*27 0.003 0 0 0 3 0 0 0 0 0 0 0 150042 chr22 20843378 20843378 G A rs9623846 KLHL22 Synonymous SNV L41L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 12.48 150043 chr1 62704007 62704007 A T rs145877699 KANK4 Nonsynonymous SNV M349K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.41 150044 chr22 22036779 22036779 C T rs755435729 PPIL2 Synonymous SNV D147D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.77 150045 chr22 22842160 22842160 C G rs144549774 ZNF280B Nonsynonymous SNV V522L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 150046 chr1 246810578 246810578 C T CNST Nonsynonymous SNV H359Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 150047 chr21 36164606 36164606 G A rs544247912 RUNX1 Synonymous SNV R396R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 7.374 150048 chr2 133541367 133541367 G C rs760521196 NCKAP5 Nonsynonymous SNV T1006S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.477 150049 chr22 22868899 22868899 G A rs144458700 ZNF280A Synonymous SNV H352H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.037 150050 chr22 22869465 22869465 C T rs143078630 ZNF280A Nonsynonymous SNV D164N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.949 150051 chr16 69364204 69364204 G C PDF Synonymous SNV P90P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.437 150052 chr2 108618468 108618468 A G rs142776152 SLC5A7 Nonsynonymous SNV Y133C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.15 150053 chr2 135891531 135891531 G A rs144231223 RAB3GAP1 Nonsynonymous SNV G476E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 150054 chr22 24034244 24034244 T C rs6003844 RGL4 Synonymous SNV P9P 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 0.376 150055 chr2 109393645 109393645 T C rs747879659 RANBP2 Synonymous SNV L2853L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.456 150056 chr2 136107665 136107665 G C rs374682433 ZRANB3 Nonsynonymous SNV H160Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 150057 chr22 24086454 24086454 T G rs76794180 ZNF70 Synonymous SNV R292R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.784 150058 chr22 24096541 24096541 G A rs34372784 VPREB3 Nonsynonymous SNV R4W 0 0.003 0 0 0 1 0 0 0 0 0 0 9.216 150059 chr22 24107934 24107934 C T rs1054055 C22orf15 Nonsynonymous SNV T156I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 4.204 150060 chr1 26349896 26349896 - CAAGAC EXTL1 D255_P256insQD 0 0 0 1 0 0 0.003 0 0 0 0 0 150061 chr12 26383963 26383963 G A rs377309867 SSPN Nonsynonymous SNV R126K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.38 150062 chr22 24108438 24108438 G T rs111677724 CHCHD10 Nonsynonymous SNV P103T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 23.4 150063 chr16 71767002 71767002 G A rs766353180 AP1G1 Synonymous SNV L810L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.226 150064 chr22 24226098 24226098 G A SLC2A11 Nonsynonymous SNV G348E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.862 150065 chr16 73161347 73161347 G C rs147269876 C16orf47 Synonymous SNV V103V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.167 150066 chr16 74946126 74946126 G A WDR59 Synonymous SNV I453I 0 0 0.003 0 0 0 0 1 0 0 0 0 14 150067 chr12 27840420 27840420 C T rs138624973 PPFIBP1 Nonsynonymous SNV R637W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 150068 chr12 27944650 27944650 C G KLHL42 Nonsynonymous SNV F294L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 150069 chr22 26242229 26242229 C T rs2859407 MYO18B Synonymous SNV C1178C 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 12.26 150070 chr22 26299738 26299738 C T rs34284508 MYO18B Synonymous SNV S1697S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.33 150071 chr22 26849209 26849209 T C HPS4 Nonsynonymous SNV N701S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.3 150072 chr16 78458827 78458827 A C rs982171635 WWOX Nonsynonymous SNV K109N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 150073 chr2 152375532 152375532 T C rs201976154 NEB Nonsynonymous SNV K5847E 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Uncertain significance 22.9 150074 chr2 152383516 152383516 C T rs372808358 NEB Synonymous SNV R5586R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.31 150075 chr15 64388242 64388242 T C rs772549297 SNX1 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.708 150076 chr16 81320972 81320973 CT - rs754603312 BCO1 L459Vfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 150077 chr12 46320591 46320591 G A rs112858085 SCAF11 Nonsynonymous SNV R965W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 150078 chr22 30163537 30163537 - AAGCTGTGGAAACACATCAAGCACAAGTATGAGAACAAGTAGTTCCTT rs749795682 UQCR10 Stop gain V51_A62delinsKLWKHIKHKYENK 0.001 0.003 0 0 1 1 0 0 0 0 0 0 150079 chr22 40037036 40037036 A G rs59635914 CACNA1I Nonsynonymous SNV D302G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 150080 chr16 839062 839062 C G CHTF18 Nonsynonymous SNV Q75E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 150081 chr1 32086564 32086564 G A rs144603792 HCRTR1 Nonsynonymous SNV G167S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.44 150082 chr1 85028962 85028962 C T rs758634923 CTBS Nonsynonymous SNV R312Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 150083 chr1 32149774 32149774 C T rs369029210 COL16A1 Nonsynonymous SNV R740Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 11.69 150084 chr2 1312312 1312312 C T rs567924207 SNTG2 Nonsynonymous SNV T444M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 150085 chr1 26490690 26490690 C T rs921236084 C1orf232 Nonsynonymous SNV A175T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.7 150086 chr1 26496639 26496639 G A rs34648771 ZNF593 Synonymous SNV L55L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.89 150087 chr22 42422869 42422869 G T rs149988961 WBP2NL Nonsynonymous SNV G205V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.335 150088 chr1 33237898 33237898 A T rs201984714 KIAA1522 Nonsynonymous SNV S981C 0.004 0 0 2 5 0 0.005 0 0 0 0 0 20.7 150089 chr16 846069 846069 G A rs142211274 CHTF18 Synonymous SNV R816R 0.007 0.01 0.003 0 8 4 0 1 0 0 0 0 6.087 150090 chr12 49446482 49446482 G A rs781037238 KMT2D Nonsynonymous SNV P375S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.59 150091 chr15 73616237 73616237 C T rs376631391 HCN4 Nonsynonymous SNV V733I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.5 150092 chr1 34191002 34191002 G A rs35719666 CSMD2 Synonymous SNV L881L 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 7.334 150093 chr2 141081616 141081616 C T rs137873952 LRP1B Synonymous SNV R4120R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Likely benign 5.161 150094 chr16 88505409 88505409 C A ZNF469 Nonsynonymous SNV P3844H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 150095 chr2 169938380 169938380 G A rs752680649 DHRS9 Nonsynonymous SNV V97M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.3 150096 chr2 155711813 155711813 T C rs80085601 KCNJ3 Synonymous SNV D498D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.01 150097 chr16 88787994 88787994 G A rs748981838 PIEZO1 Synonymous SNV Y1785Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.618 150098 chr2 171056696 171056696 T C rs56037828 MYO3B Synonymous SNV L75L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.619 150099 chr12 52629060 52629060 G A rs117913744 KRT7 Nonsynonymous SNV R149Q 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 19.85 150100 chr22 47189569 47189569 G A rs147056286 TBC1D22A Synonymous SNV T78T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.02 150101 chr22 37491614 37491614 A G rs776877803 TMPRSS6 Nonsynonymous SNV I203T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.54 150102 chr1 40928141 40928141 T G rs773804519 ZFP69B Nonsynonymous SNV I162S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.44 150103 chr22 38240238 38240238 G T ANKRD54 Nonsynonymous SNV A3D 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 150104 chr2 176983837 176983837 A G HOXD10 Nonsynonymous SNV K301E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 150105 chr1 41296931 41296931 C T rs746170447 KCNQ4 Nonsynonymous SNV R436C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 150106 chr22 50658078 50658078 G A TUBGCP6 Nonsynonymous SNV S1437F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 150107 chr22 50686424 50686424 C T HDAC10 Nonsynonymous SNV R391H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 150108 chr2 162934040 162934040 C T rs115160472 DPP4-DT 0.002 0 0 0 2 0 0 0 0 0 0 0 13.17 150109 chr2 179437089 179437089 A G rs201380749 TTN Synonymous SNV Y15525Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.005 150110 chr12 53069130 53069130 G A KRT1 Synonymous SNV G594G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.563 150111 chr1 38027796 38027796 A C rs41267313 DNALI1 Nonsynonymous SNV K231Q 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 14.63 150112 chr2 179567339 179567339 T C TTN Nonsynonymous SNV H8848R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 150113 chr22 39530591 39530591 G A rs750296545 CBX7 Nonsynonymous SNV P138L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 150114 chr2 179605413 179605413 T C rs201565932 TTN Nonsynonymous SNV K3820E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.298 150115 chr16 89784297 89784362 GGCTCCCCCGACCTCTGTGATCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGT - VPS9D1-AS1 0 0 0.041 0 0 0 0 12 0 0 0 0 150116 chr16 90109467 90109467 G A rs141373741 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 3.132 150117 chr2 179642688 179642688 C T rs754270707 TTN Nonsynonymous SNV R1362H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.5 150118 chr1 40315834 40315834 C T rs143950082 TRIT1 Synonymous SNV K140K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 150119 chr1 40319722 40319722 G - rs536000212 TRIT1 R112Efs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 150120 chr17 10408502 10408502 A - rs753113070 MYH1 Y805Tfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 150121 chr12 54911376 54911376 C T rs34286028 NCKAP1L Synonymous SNV R335R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.05 150122 chr1 40705431 40705431 G A rs144143908 RLF Nonsynonymous SNV C1686Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.561 150123 chr17 11511629 11511629 A G rs754680221 DNAH9 Nonsynonymous SNV K201E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.001 150124 chr17 11520843 11520843 C T rs369392784 DNAH9 Synonymous SNV H340H 0 0 0.007 0 0 0 0 2 0 0 0 0 14.08 150125 chr17 11687629 11687629 G A rs143223880 DNAH9 Nonsynonymous SNV V2612M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 150126 chr12 56230980 56230980 C T rs150724096 MMP19 Nonsynonymous SNV R456Q 0.008 0.005 0.007 4 9 2 0.01 2 0 0 0 0 Likely benign 23.4 150127 chr12 56531348 56531348 A G rs138502613 ESYT1 Synonymous SNV G678G 0 0 0.007 2 0 0 0.005 2 0 0 0 0 9.868 150128 chr2 179425988 179425988 G A rs192152102 TTN Nonsynonymous SNV R19226C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 150129 chr2 186665622 186665622 G A rs137884199 FSIP2 Synonymous SNV P3863P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.94 150130 chr2 179485016 179485016 G A TTN Nonsynonymous SNV S6346F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.17 150131 chr2 113887209 113887209 G T IL1RN Nonsynonymous SNV G58V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.9 150132 chr22 47134034 47134034 C G CERK Synonymous SNV T4T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.16 150133 chr1 46860184 46860184 T C rs1024653476 FAAH Nonsynonymous SNV M55T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.6 150134 chr22 31091282 31091282 G A rs763066418 OSBP2 Nonsynonymous SNV R129Q 0.002 0 0 0 2 0 0 0 0 0 0 0 2.708 150135 chr1 47108969 47108969 C T rs375918153 ATPAF1 Nonsynonymous SNV R142Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 150136 chr17 19285428 19285430 TCC - rs777410346 MAPK7 P468del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 150137 chr1 55563351 55563351 T C USP24 Nonsynonymous SNV S1879G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.82 150138 chr2 197863131 197863131 T C rs754775802 ANKRD44 Nonsynonymous SNV N893S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 150139 chr2 128379615 128379615 G A rs201359831 MYO7B Nonsynonymous SNV R1169H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 150140 chr2 128476884 128476884 C T rs116673021 WDR33 Synonymous SNV Q905Q 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 10.16 150141 chr15 101041899 101041899 G A rs761185355 CERS3 Synonymous SNV I52I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 150142 chr2 202352363 202352363 C T rs34138250 C2CD6 Nonsynonymous SNV R615Q 0.004 0.016 0 3 5 6 0.008 0 0 0 0 1 10.29 150143 chr2 131519996 131519996 C T rs138384631 AMER3 Synonymous SNV F117F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.605 150144 chr20 31611174 31611174 C T rs146905219 BPIFB2 Synonymous SNV L454L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 4.547 150145 chr2 133547654 133547654 C T rs761336536 NCKAP5 Nonsynonymous SNV S345N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 150146 chr2 189876394 189876394 G T rs772428340 COL3A1 Nonsynonymous SNV R1432L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.2 150147 chr2 190334119 190334119 T A rs138207048 WDR75 Nonsynonymous SNV N591K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.43 150148 chr1 55598286 55598286 T C rs367580658 USP24 Nonsynonymous SNV I1157V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 150149 chr2 150061872 150061872 A G rs778203922 LYPD6B Synonymous SNV A23A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.44 150150 chr22 38508249 38508249 G A rs138683183 PLA2G6 Synonymous SNV N726N 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 9.575 150151 chr2 108921998 108921998 C T rs148075644 SULT1C2 Nonsynonymous SNV S242F 0 0.005 0 2 0 2 0.005 0 0 0 0 0 32 150152 chr17 27237191 27237191 G A PHF12 Synonymous SNV C804C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.857 150153 chr2 10908852 10908852 C T rs371007689 ATP6V1C2 Nonsynonymous SNV A129V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.3 150154 chr2 152490237 152490237 G A rs367739638 NEB Synonymous SNV H3115H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 10.86 150155 chr2 209358093 209358093 C T rs150613059 PTH2R Synonymous SNV T251T 0.014 0.018 0 4 16 7 0.01 0 1 0 0 0 12.92 150156 chr2 109746402 109746402 C T rs974527688 SH3RF3 Nonsynonymous SNV P136S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.027 150157 chr2 21236166 21236166 T C APOB Nonsynonymous SNV N1361S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.77 150158 chr16 1576668 1576668 C T rs1045253033 IFT140 Synonymous SNV P843P 0.004 0 0 0 5 0 0 0 0 0 0 0 9.293 150159 chr17 33288713 33288713 C T rs201225007 ZNF830 Nonsynonymous SNV A43V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 150160 chr2 215813807 215813807 T C rs150196545 ABCA12 Nonsynonymous SNV I1989V 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.396 150161 chr16 1962088 1962088 C A HS3ST6 Nonsynonymous SNV V178L 0.004 0 0 0 5 0 0 0 0 0 0 0 19.93 150162 chr2 207509029 207509029 G T rs769196561 FAM237A Synonymous SNV V23V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.42 150163 chr1 85486765 85486765 G A rs12123273 MCOLN3 Synonymous SNV Y449Y 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 6.365 150164 chr12 108913158 108913158 C T FICD Nonsynonymous SNV T428I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.52 150165 chr12 109186389 109186389 A T rs372028255 SSH1 Synonymous SNV P533P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.014 150166 chr12 109661672 109661672 A G rs149793040 ACACB Nonsynonymous SNV Y1282C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 150167 chr16 3335748 3335748 G T ZNF263 Synonymous SNV G212G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.18 150168 chr2 128400622 128400622 G A rs145123078 LIMS2 Nonsynonymous SNV R129C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 29.4 150169 chr12 111070319 111070319 C T rs770297289 TCTN1 Nonsynonymous SNV P223S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.3 150170 chr12 112182580 112182580 G A ACAD10 Synonymous SNV R616R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.294 150171 chr2 133538703 133538703 G A rs61742426 NCKAP5 Synonymous SNV G1657G 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 0.066 150172 chr1 77987627 77987627 G A AK5 Nonsynonymous SNV R450K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.31 150173 chr2 215876356 215876356 G A rs137906898 ABCA12 Synonymous SNV N395N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.336 150174 chr17 3775883 3775883 C T rs772298969 CAMKK1 Synonymous SNV R363R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 150175 chr12 113407440 113407440 G A rs371036023 OAS3 Synonymous SNV P1044P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.99 150176 chr16 4516376 4516376 G A rs746341223 NMRAL1 Nonsynonymous SNV R103C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 150177 chr2 174074555 174074555 G A rs55824253 MAP3K20 Synonymous SNV A281A 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 Benign 11.49 150178 chr12 116446532 116446532 C T MED13L Synonymous SNV Q562Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.019 150179 chr2 219294321 219294321 G C rs79468589 VIL1 Nonsynonymous SNV V258L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.3 150180 chr2 219300110 219300110 C A rs61733654 VIL1 Nonsynonymous SNV N593K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 21.3 150181 chr2 219301266 219301266 C T rs35470223 VIL1 Nonsynonymous SNV R630C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.5 150182 chr2 219507666 219507666 C T rs61733613 ZNF142 Synonymous SNV R1191R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.129 150183 chr2 219515109 219515109 T G rs61733648 ZNF142 Nonsynonymous SNV K141Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.496 150184 chr2 220477930 220477930 G A STK11IP Synonymous SNV K840K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.226 150185 chr2 219609878 219609878 G A rs35012974 TTLL4 Nonsynonymous SNV V570I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.1 150186 chr2 219674482 219674482 G A rs692003 CYP27A1 Synonymous SNV P146P 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Benign 7.886 150187 chr20 56078499 56078499 G A rs138934649 CTCFL Synonymous SNV N349N 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 1.711 150188 chr2 219694917 219694917 G A rs12328317 PRKAG3 Synonymous SNV F139F 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 7.676 150189 chr2 219696485 219696485 G A rs60578863 PRKAG3 Synonymous SNV P3P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.383 150190 chr2 179409148 179409148 A T TTN Nonsynonymous SNV D22871E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.713 150191 chr2 219736262 219736262 C T rs773072273 WNT6 Synonymous SNV A119A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 150192 chr2 219890814 219890814 C T rs114017706 CFAP65 Nonsynonymous SNV R760Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 16.88 150193 chr2 219920196 219920196 G A rs76578869 IHH Synonymous SNV H323H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.16 150194 chr2 219920410 219920410 T C rs76479554 IHH Nonsynonymous SNV H252R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.009 150195 chr20 57036249 57036249 G A rs201616837 APCDD1L Nonsynonymous SNV T368M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 150196 chr2 155555406 155555406 A G rs16838016 KCNJ3 Nonsynonymous SNV K40R 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 6.056 150197 chr16 12293530 12293530 A G rs142571390 SNX29 Synonymous SNV Q556Q 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 1.701 150198 chr17 3935502 3935502 G A ZZEF1 Synonymous SNV P2270P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.969 150199 chr12 123706219 123706219 T A MPHOSPH9 Nonsynonymous SNV D191V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 22.8 150200 chr2 182780838 182780838 A G rs776396556 ITPRID2 Nonsynonymous SNV H671R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 150201 chr20 13839954 13839954 A G SEL1L2 Nonsynonymous SNV M591T 0 0 0 1 0 0 0.003 0 0 0 0 0 21 150202 chr20 6077624 6077624 G A rs138986656 FERMT1 Synonymous SNV S338S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.18 150203 chr1 906300 906300 G A rs199938541 PLEKHN1 Nonsynonymous SNV A176T 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 9.573 150204 chr2 232325406 232325408 TCA - rs556842200 NCL D261del 0.004 0.003 0 0 5 1 0 0 0 0 0 0 150205 chr20 1629815 1629815 G A rs777710856 SIRPG Nonsynonymous SNV R105C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.9 150206 chr20 61389669 61389669 G A rs150384345 NTSR1 Nonsynonymous SNV R323H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 34 150207 chr2 228680245 228680245 G A rs771540021 CCL20 Nonsynonymous SNV R50Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.75 150208 chr2 231222661 231222661 C T rs61733462 SP140L Synonymous SNV L58L 0.004 0 0 0 5 0 0 0 0 0 0 0 8.296 150209 chr2 169681199 169681199 A C rs199677615 NOSTRIN Nonsynonymous SNV S57R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 23.4 150210 chr20 61982351 61982351 G A rs372063405 CHRNA4 Synonymous SNV L138L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 2.963 150211 chr17 42463036 42463036 C T rs199641871 ITGA2B Nonsynonymous SNV A153T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 27.9 150212 chr20 20180504 20180504 G C rs772424654 CFAP61 Nonsynonymous SNV K630N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 150213 chr17 43005606 43005606 G A rs201358373 KIF18B Synonymous SNV R700R 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 6.867 150214 chr2 234224738 234224738 G A rs79063407 SAG Synonymous SNV G31G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 7.487 150215 chr2 240098143 240098143 C T HDAC4 Synonymous SNV L152L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.98 150216 chr16 31142245 31142245 C G rs572043246 KAT8 Nonsynonymous SNV R446G 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 10.62 150217 chr20 17640037 17640037 A G rs199627205 RRBP1 Synonymous SNV A372A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.034 150218 chr20 18143424 18143424 G A rs1051799098 KAT14 Synonymous SNV R502R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.243 150219 chr2 238303472 238303472 T G rs150972216 COL6A3 Nonsynonymous SNV D156A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 17.46 150220 chr2 241922316 241922316 G A rs774494550 CROCC2 Nonsynonymous SNV R1474H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.027 150221 chr2 208842225 208842225 A G rs149588922 PLEKHM3 Synonymous SNV Y232Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.422 150222 chr2 208866223 208866223 C A rs185339845 PLEKHM3 Synonymous SNV G47G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.9 150223 chr2 209007566 209007566 G A rs373684892 CRYGB Synonymous SNV D108D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.514 150224 chr2 24245360 24245360 G A rs759305073 MFSD2B Nonsynonymous SNV V318I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 150225 chr2 17998074 17998074 A G rs751281952 MSGN1 Nonsynonymous SNV M97V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 150226 chr17 48674228 48674228 C T rs754170584 CACNA1G Nonsynonymous SNV R1045C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 150227 chr2 241872271 241872271 C T rs554922305 CROCC2 Synonymous SNV D399D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 4.824 150228 chr13 39454423 39454423 C T rs145657148 FREM2 Synonymous SNV V3003V 0.002 0 0 6 2 0 0.015 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.293 150229 chr16 58010466 58010466 A T TEPP Nonsynonymous SNV S31C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.666 150230 chr2 25057383 25057383 C T rs756049937 ADCY3 Synonymous SNV T646T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.73 150231 chr20 36982785 36982785 C G rs2232586 LBP Nonsynonymous SNV S157C 0 0.005 0 3 0 2 0.008 0 0 0 0 0 23.5 150232 chr17 56429644 56429644 C T rs1021147750 TSPOAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 150233 chr2 24261442 24261442 T C WDCP Nonsynonymous SNV Y308C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.075 150234 chr16 67318657 67318657 G A rs750349724 PLEKHG4 Synonymous SNV E497E 0.003 0 0 0 4 0 0 0 0 0 0 0 8.509 150235 chr2 242626114 242626114 C A rs758841162 DTYMK Nonsynonymous SNV A29S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.817 150236 chr2 26818092 26818092 C T rs752530138 CIB4 Nonsynonymous SNV E94K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.3 150237 chr20 40040870 40040870 G A rs61752057 CHD6 Nonsynonymous SNV R2389C 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Benign 35 150238 chr13 46787220 46787220 - A LRRC63 Frameshift insertion L19Afs*5 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 150239 chr17 60140631 60140631 T A rs375552968 MED13 Nonsynonymous SNV Y33F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 150240 chr20 43048416 43048416 G A rs145280017 HNF4A Synonymous SNV V264V 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.82 150241 chr2 220162129 220162129 C T rs144452294 PTPRN Synonymous SNV T609T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.52 150242 chr17 62577064 62577064 A G rs370146927 SMURF2 Synonymous SNV F205F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.774 150243 chr17 62746750 62746750 T C ARHGAP27P1-BPTFP1-KPNA2P3 0 0 0.003 0 0 0 0 1 0 0 0 0 4.992 150244 chr2 220332031 220332031 G A rs571127512 SPEG Nonsynonymous SNV R1006H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 150245 chr13 53254218 53254218 T C rs375476695 SUGT1 Synonymous SNV A276A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 3.932 150246 chr20 46265284 46265284 C T rs371484815 NCOA3 Synonymous SNV D718D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.69 150247 chr2 220404558 220404558 C T CHPF Synonymous SNV L463L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.351 150248 chr20 47558420 47558420 C T rs149471454 ARFGEF2 Nonsynonymous SNV P58S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Uncertain significance 22.8 150249 chr17 66981058 66981058 G A rs148120108 ABCA9 Synonymous SNV T1449T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.607 150250 chr17 67087394 67087394 T C rs568291044 ABCA6 Nonsynonymous SNV I1140V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 150251 chr2 225635285 225635285 T C rs182634471 DOCK10 Synonymous SNV V2088V 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 8.068 150252 chr16 75448480 75448480 C T rs16963331 CFDP1 Nonsynonymous SNV A60T 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 22.5 150253 chr2 170505709 170505709 C T rs762205420 CCDC173 Nonsynonymous SNV A434T 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 19.33 150254 chr17 67252413 67252413 G A rs146451743 ABCA5 Nonsynonymous SNV T1248M 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 6.642 150255 chr20 50139691 50139691 C T rs115260036 NFATC2 Synonymous SNV S343S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 10.27 150256 chr2 38179140 38179140 C G RMDN2 Nonsynonymous SNV S261C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.4 150257 chr2 38604345 38604345 G A rs369253959 ATL2 Nonsynonymous SNV R20W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 150258 chr2 36994287 36994287 C T rs988766585 VIT Stop gain Q180X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 150259 chr2 37459370 37459370 G A rs191709602 NDUFAF7 Synonymous SNV V59V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.98 150260 chr17 71410825 71410825 G A rs200296942 SDK2 Synonymous SNV A814A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 150261 chr2 39542484 39542484 C T rs146697994 MAP4K3 Nonsynonymous SNV V322M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 150262 chr2 43787523 43787523 G A rs746470029 THADA Synonymous SNV G771G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.72 150263 chr17 7250236 7250236 C T rs547368787 ACAP1 Nonsynonymous SNV R373W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 150264 chr2 234164782 234164782 A G rs371598171 ATG16L1 Synonymous SNV S50S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.693 150265 chr2 44102441 44102441 G A rs140690030 ABCG8 Nonsynonymous SNV A548T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 150266 chr2 47300926 47300926 A G rs754869776 TTC7A Nonsynonymous SNV E460G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 150267 chr16 84353129 84353129 G A rs757803907 WFDC1 Nonsynonymous SNV E172K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 150268 chr17 72945431 72945431 G A rs758926263 OTOP3 Nonsynonymous SNV V553I 0 0 0.003 0 0 0 0 1 0 0 0 0 27 150269 chr2 234669619 234669619 C T rs35350960 UGT1A1 Nonsynonymous SNV P229L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 150270 chr2 234698156 234698156 G A rs767408226 MROH2A Nonsynonymous SNV R97H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 150271 chr2 54080655 54080655 C G rs368527395 GPR75 Synonymous SNV G413G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.722 150272 chr2 216286883 216286883 T C rs886960105 FN1 Nonsynonymous SNV M493V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 150273 chr20 60712447 60712447 A G PSMA7 Synonymous SNV A209A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.621 150274 chr17 73518153 73518153 G A rs773368581 TSEN54 Nonsynonymous SNV E331K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 150275 chr2 55900042 55900042 C G rs139091915 PNPT1 Synonymous SNV V284V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 11.74 150276 chr16 87745019 87745019 G A rs189243168 KLHDC4 Nonsynonymous SNV S232L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 25.2 150277 chr20 60909261 60909261 G A rs375524294 LAMA5 Nonsynonymous SNV A907V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 150278 chr2 60688697 60688697 G A rs1021155995 BCL11A Synonymous SNV P416P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.769 150279 chr20 56803345 56803345 T C ANKRD60 Nonsynonymous SNV K122R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 150280 chr16 88552442 88552442 C A rs35867223 ZFPM1 Nonsynonymous SNV P46T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.89 150281 chr16 88599315 88599315 C T rs141747177 ZFPM1 Synonymous SNV A387A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.168 150282 chr16 88677873 88677873 T C ZC3H18 Synonymous SNV R468R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.964 150283 chr20 61510920 61510920 C T rs954460049 DIDO1 Nonsynonymous SNV D2130N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.47 150284 chr20 61512497 61512497 G A rs190978818 DIDO1 Nonsynonymous SNV A1604V 0.009 0.013 0 3 11 5 0.008 0 0 0 0 0 3.41 150285 chr17 76457684 76457684 A G rs781612269 DNAH17 Nonsynonymous SNV V3094A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 150286 chr2 241459912 241459912 - GCA rs745366434 ANKMY1 L393_R394insL 0 0.003 0 0 0 1 0 0 0 0 0 0 150287 chr16 88782696 88782696 G A MIR4722 0.001 0 0 0 1 0 0 0 0 0 0 0 0.72 150288 chr2 241929138 241929138 G A rs761427060 CROCC2 Nonsynonymous SNV R1584Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 150289 chr20 61872846 61872846 C G NKAIN4 X120S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.761 150290 chr2 71357870 71357870 C G MPHOSPH10 Synonymous SNV P25P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.39 150291 chr20 60901755 60901755 C T rs746320156 LAMA5 Nonsynonymous SNV R1759H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.028 150292 chr16 88951622 88951622 G A CBFA2T3 Nonsynonymous SNV R231W 0.004 0 0 1 5 0 0.003 0 0 0 0 0 32 150293 chr2 24443817 24443817 G A rs369405758 ITSN2 Synonymous SNV V1192V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.87 150294 chr17 78064065 78064096 GGCACGTGCACGAACAACACGGGACGCGCGCA - rs762938274 CCDC40 N1003Kfs*80 0.001 0 0.007 0 1 0 0 2 0 0 0 0 150295 chr2 72360330 72360330 C T rs534997827 CYP26B1 Nonsynonymous SNV R248Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 150296 chr20 61287879 61287879 G C rs35183172 SLCO4A1 Nonsynonymous SNV D25H 0.005 0 0 0 6 0 0 0 0 0 0 0 12.54 150297 chr2 73635766 73635766 G T rs1052797474 ALMS1 Nonsynonymous SNV C114F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.08 150298 chr20 61340694 61340694 C T rs61742231 NTSR1 Synonymous SNV R45R 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 14.81 150299 chr20 61341092 61341092 C T rs199767301 NTSR1 Nonsynonymous SNV T178I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.3 150300 chr2 74710238 74710238 A C rs200546104 TTC31 Nonsynonymous SNV K6Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.2 150301 chr20 61456341 61456341 G A COL9A3 Nonsynonymous SNV E200K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 150302 chr20 62329610 62329634 GCTGCCTCCCCACCCCACTGCAGGA - TNFRSF6B Stop gain A208* 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 150303 chr2 74642408 74642408 G A rs746144505 C2orf81 Nonsynonymous SNV S204L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.85 150304 chr17 695043 695043 T C rs776669060 MRM3 Nonsynonymous SNV W137R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.74 150305 chr2 86074998 86074998 G A rs149309844 ST3GAL5 Synonymous SNV F88F 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign/Likely benign 7.535 150306 chr14 24629457 24629457 C T rs977757625 RNF31 Synonymous SNV Y851Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.67 150307 chr2 85554055 85554055 G T rs145218072 TGOLN2 Nonsynonymous SNV S267Y 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 22.7 150308 chr2 85554057 85554057 G T rs137902012 TGOLN2 Synonymous SNV I266I 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 8.24 150309 chr2 85629266 85629266 C T rs62623452 CAPG Star tloss M1? 0.008 0.008 0.01 2 9 3 0.005 3 0 0 0 0 27.7 150310 chr2 202050674 202050674 C T rs114625983 CASP10 Synonymous SNV A58A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 10.41 150311 chr20 62324619 62324619 C T rs143967591 RTEL1 Nonsynonymous SNV P769L 0.011 0.003 0 2 13 1 0.005 0 0 0 0 0 Benign/Likely benign 10.85 150312 chr2 29240769 29240769 T C rs192390933 TOGARAM2 Nonsynonymous SNV L436P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.3 150313 chr2 29247229 29247229 G C rs113163075 TOGARAM2 Synonymous SNV S423S 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.085 150314 chr21 31798013 31798013 G C KRTAP13-3 Nonsynonymous SNV S73C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.81 150315 chr2 239039581 239039581 C T ESPNL Synonymous SNV I374I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.911 150316 chr20 9496916 9496916 T C LAMP5 Nonsynonymous SNV M84T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.898 150317 chr17 80888476 80888476 G A rs1013268942 TBCD Nonsynonymous SNV G1024R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.049 150318 chr2 33783393 33783393 G A rs13412776 RASGRP3 Synonymous SNV S564S 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 14.45 150319 chr14 38091531 38091531 G A rs748642355 TTC6 Nonsynonymous SNV A104T 0.001 0.008 0.007 1 1 3 0.003 2 0 0 0 0 23.2 150320 chr2 241874861 241874861 G A rs372103663 CROCC2 Synonymous SNV A675A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.7 150321 chr14 45646041 45646041 G A rs199895244 FANCM Nonsynonymous SNV D1336N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 13.28 150322 chr2 39030047 39030047 A G DHX57 Nonsynonymous SNV F1174S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 150323 chr21 34925765 34925765 G A rs144716297 SON Nonsynonymous SNV V1410I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.21 150324 chr22 40417372 40417372 G A rs115837035 FAM83F Synonymous SNV T286T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.91 150325 chr3 113955344 113955344 T C ZNF80 Nonsynonymous SNV E193G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 150326 chr2 219563899 219563899 A G rs757673227 STK36 Nonsynonymous SNV N1190S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 150327 chr22 41924021 41924021 G A rs764094341 ACO2 Nonsynonymous SNV G735S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 150328 chr18 28666679 28666679 T C rs201015785 DSC2 Nonsynonymous SNV T268A 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Uncertain significance 23.1 150329 chr21 43161655 43161655 C T RIPK4 Synonymous SNV Q566Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.378 150330 chr3 114069910 114069910 A G ZBTB20 Nonsynonymous SNV Y339H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 150331 chr21 45919806 45919806 C T rs587717339 TSPEAR Nonsynonymous SNV E624K 0.003 0 0 2 4 0 0.005 0 0 0 0 0 35 150332 chr18 334837 334837 G A rs145828426 COLEC12 Nonsynonymous SNV P574L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 13.98 150333 chr2 220404165 220404165 G A rs767055542 CHPF Synonymous SNV L594L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.508 150334 chr2 220416328 220416328 T C rs750849270 OBSL1 Nonsynonymous SNV D1869G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 150335 chr17 7466433 7466433 G A SENP3 Nonsynonymous SNV E14K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 150336 chr21 43547254 43547254 C T rs187079310 UMODL1 Synonymous SNV Y1200Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.507 150337 chr2 30954262 30954262 G T rs767261292 CAPN13 Nonsynonymous SNV T644N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.13 150338 chr18 40853900 40853900 A T rs141781369 SYT4 Nonsynonymous SNV F165Y 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 Likely benign 7.623 150339 chr2 31620586 31620587 CA - XDH C148Pfs*28 0.001 0.008 0 0 1 3 0 0 0 0 0 0 150340 chr21 46945796 46945796 C T rs746905281 SLC19A1 Nonsynonymous SNV V370I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.48 150341 chr18 43450590 43450590 C T rs753386481 EPG5 Nonsynonymous SNV R2056Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.652 150342 chr21 45670795 45670795 G A rs147380531 DNMT3L Synonymous SNV Y269Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 150343 chr18 44085964 44085964 - A LOXHD1 Frameshift insertion F145Vfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 150344 chr18 48723137 48723137 - CCG MEX3C A184_G185insA 0.001 0 0.003 0 1 0 0 1 0 0 0 0 150345 chr3 124837678 124837678 C T rs760115161 SLC12A8 Nonsynonymous SNV V283I 0.014 0.003 0 7 16 1 0.018 0 0 0 0 0 20.5 150346 chr17 10355428 10355428 C T rs766733986 MYH4 Nonsynonymous SNV E1190K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 150347 chr3 127358175 127358175 C T rs749242849 PODXL2 Nonsynonymous SNV P53L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 150348 chr3 127379549 127379549 G A PODXL2 Synonymous SNV G226G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.513 150349 chr3 1269658 1269658 G A rs141581143 CNTN6 Synonymous SNV K41K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.8 150350 chr2 84960594 84960594 C G rs72832550 DNAH6 Synonymous SNV P3411P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.47 150351 chr18 56202721 56202721 G A rs144642423 ALPK2 Synonymous SNV D1566D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.429 150352 chr3 128711975 128711975 G A KIAA1257 Nonsynonymous SNV S58L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8 150353 chr3 129140526 129140526 C T rs78778825 EFCAB12 Nonsynonymous SNV R57Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.3 150354 chr22 51177798 51177798 C T rs145756479 ACR Synonymous SNV S59S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.77 150355 chr18 5891346 5891346 - GCGGCGGGGGCAGACGACGACGAAGAG TMEM200C A239_A240insSSSSSAPAA 0 0 0.003 0 0 0 0 1 0 0 0 0 150356 chr22 17589226 17589226 C T IL17RA Nonsynonymous SNV P339S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 150357 chr3 130454717 130454717 T C rs916857634 PIK3R4 Nonsynonymous SNV E288G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 150358 chr2 58313555 58313555 G A rs147530902 VRK2 Nonsynonymous SNV G113E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22 150359 chr22 19711755 19711755 C T rs547921381 GP1BB Nonsynonymous SNV P130L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.42 150360 chr18 64748842 64748842 G C MIR5011 0 0 0.003 0 0 0 0 1 0 0 0 0 0.818 150361 chr22 19839612 19839612 A G RTL10 Nonsynonymous SNV V58A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.198 150362 chr18 7037641 7037641 G A rs143997842 LAMA1 Nonsynonymous SNV A558V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.576 150363 chr3 10081515 10081515 G C FANCD2 Synonymous SNV V227V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 150364 chr2 69472439 69472439 C T rs200543195 ANTXR1 Nonsynonymous SNV P506L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22 150365 chr17 21215498 21215498 C G rs151338667 MAP2K3 Synonymous SNV T244T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 14.15 150366 chr2 105866864 105866864 T C rs565231999 TGFBRAP1 Synonymous SNV G804G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 4.139 150367 chr3 138024875 138024875 G A rs202005134 NME9 Stop gain R140X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 150368 chr2 70503954 70503954 G A rs36012096 PCYOX1 Synonymous SNV P316P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.36 150369 chr22 22293945 22293947 TCT - rs764578206 PPM1F E107del 0.008 0 0 3 9 0 0.008 0 0 0 0 0 150370 chr3 13660447 13660447 G A rs763522125 FBLN2 Synonymous SNV L661L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.689 150371 chr18 74620492 74620492 C T ZNF236 Synonymous SNV G838G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.81 150372 chr18 77119409 77119409 G A rs1003797801 ATP9B Nonsynonymous SNV V987M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 150373 chr2 109432509 109432509 C T rs148283548 CCDC138 Nonsynonymous SNV P380L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 13.44 150374 chr3 142567193 142567193 C T rs147227072 PCOLCE2 Nonsynonymous SNV R105H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 150375 chr3 141163362 141163362 G T rs150383184 ZBTB38 Nonsynonymous SNV G711V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25 150376 chr3 141497669 141497669 C G rs141991963 GRK7 Nonsynonymous SNV F181L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 150377 chr17 26940588 26940588 T A rs55712294 RSKR Nonsynonymous SNV H65L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.01 150378 chr17 27023927 27023927 A T rs140698235 SUPT6H Nonsynonymous SNV M1346L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.32 150379 chr17 27209426 27209426 T A FLOT2 Nonsynonymous SNV T170S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.16 150380 chr17 27287531 27287531 C T rs151117104 SEZ6 Nonsynonymous SNV R523H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 150381 chr3 150127491 150127491 C T rs745408935 TSC22D2 Synonymous SNV A118A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 150382 chr17 33331364 33331364 C T rs756649783 LIG3 Nonsynonymous SNV R957C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 150383 chr3 115439686 115439686 A C rs145861080 GAP43 Nonsynonymous SNV E225A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.6 150384 chr3 118621417 118621417 C T rs998686131 IGSF11 Nonsynonymous SNV A416T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 33 150385 chr2 85923133 85923133 T C rs138334587 GNLY Nonsynonymous SNV L70P 0.004 0.005 0.014 1 5 2 0.003 4 0 0 0 0 9.896 150386 chr3 157146273 157146273 G A rs140995851 VEPH1 Synonymous SNV N178N 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 2.715 150387 chr22 38051961 38051961 G C rs958293878 SH3BP1 Nonsynonymous SNV E574D 0.002 0 0 4 2 0 0.01 0 0 0 0 0 3.218 150388 chr2 86408459 86408459 G T IMMT Synonymous SNV R28R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.42 150389 chr3 160967282 160967282 G A rs373122412 NMD3 Nonsynonymous SNV R415H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 150390 chr22 38120532 38120532 G A rs770347004 TRIOBP Nonsynonymous SNV D657N 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.018 150391 chr22 39085384 39085384 C T rs146203558 JOSD1 Synonymous SNV L77L 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 15.02 150392 chr2 131520254 131520254 C G rs539104678 AMER3 Synonymous SNV P203P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.439 150393 chr17 36868990 36868990 C T MLLT6 Nonsynonymous SNV P256L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 150394 chr22 31493030 31493030 C T rs199718364 SMTN Synonymous SNV F747F 0.003 0 0 0 4 0 0 0 0 0 0 0 18.77 150395 chr3 167750479 167750479 C T rs141130809 GOLIM4 Synonymous SNV V307V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 150396 chr19 12297841 12297841 A G rs764578618 ZNF136 Synonymous SNV R150R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 7.089 150397 chr3 172059018 172059018 C T FNDC3B Synonymous SNV S656S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.985 150398 chr22 31998657 31998657 C T SFI1 Nonsynonymous SNV A509V 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 150399 chr22 32650149 32650149 G A rs750967011 SLC5A4 Nonsynonymous SNV R63C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 150400 chr19 13409473 13409473 - GCCCTCGCCGCCCCGGGCCGGCCGGCT CACNA1A G992_E993insSRPARGGEG 0 0 0.003 0 0 0 0 1 0 0 0 0 150401 chr2 136743034 136743034 G C DARS1 Nonsynonymous SNV P2R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 150402 chr3 172835405 172835405 G A rs372937515 SPATA16 Synonymous SNV N39N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 0.056 150403 chr3 10413514 10413514 G A rs148841263 ATP2B2 Synonymous SNV S501S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.82 150404 chr3 123634294 123634294 C T rs145664821 CCDC14 Nonsynonymous SNV G532S 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 0.001 150405 chr17 39114915 39114915 T C rs201519125 KRT39 Nonsynonymous SNV K472E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.8 150406 chr19 14512243 14512243 G A ADGRE5 Nonsynonymous SNV V222I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.111 150407 chr15 31342725 31342725 G T rs373102819 TRPM1 Nonsynonymous SNV P459T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.043 150408 chr3 126571571 126571571 A C rs147083615 CHCHD6 Nonsynonymous SNV K166Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.35 150409 chr2 37501813 37501813 T C rs145739051 PRKD3 Nonsynonymous SNV I468V 0.004 0.01 0.007 1 5 4 0.003 2 0 0 0 0 0.003 150410 chr2 152534441 152534441 A C NEB Synonymous SNV P1172P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.012 150411 chr19 15479102 15479102 C T rs71334765 AKAP8 Synonymous SNV K368K 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 10.96 150412 chr15 40512901 40512901 A C rs34700927 BUB1B Nonsynonymous SNV N1032H 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 19.09 150413 chr22 38565333 38565333 G A rs147948449 PLA2G6 Nonsynonymous SNV S34L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.801 150414 chr19 15794488 15794488 T C rs781118691 CYP4F12 Nonsynonymous SNV L278P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 150415 chr22 40056362 40056362 G A rs770598577 CACNA1I Nonsynonymous SNV R838H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 150416 chr3 187088660 187088660 C G rs76912569 RTP4 Synonymous SNV S80S 0.002 0.01 0 0 2 4 0 0 0 0 0 0 1.865 150417 chr3 129150385 129150385 C G rs2307293 MBD4 Nonsynonymous SNV D250H 0.007 0.016 0 1 8 6 0.003 0 0 0 0 0 Uncertain significance 26.6 150418 chr19 16268507 16268507 G A rs369533686 HSH2D Nonsynonymous SNV E296K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.099 150419 chr2 160673436 160673436 T C rs537314669 LY75, LY75-CD302 Nonsynonymous SNV M1421V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.678 150420 chr19 17013524 17013524 G A rs748210595 CPAMD8 Synonymous SNV D1540D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.277 150421 chr22 42473927 42473927 A C rs193003847 PHETA2 Synonymous SNV L210L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 150422 chr3 130452793 130452793 A C PIK3R4 Nonsynonymous SNV L350W 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 25.8 150423 chr15 42058415 42058415 C T rs374431638 MGA Nonsynonymous SNV T2503M 0 0 0 2 0 0 0.005 0 0 0 0 0 13.39 150424 chr3 194336353 194336353 C A rs138606939 TMEM44 Nonsynonymous SNV S286I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25 150425 chr2 54094013 54094013 C A rs201846830 PSME4 Nonsynonymous SNV L1756F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 150426 chr19 17394507 17394507 C G rs546961772 ANKLE1 Nonsynonymous SNV P301A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 150427 chr3 13379372 13379372 G A rs144770995 NUP210 Nonsynonymous SNV R1173C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.6 150428 chr22 44031052 44031052 G A rs758433213 EFCAB6 Synonymous SNV A524A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.306 150429 chr3 135721263 135721263 C T PPP2R3A Nonsynonymous SNV T308I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.41 150430 chr3 135721981 135721981 C T rs61757744 PPP2R3A Synonymous SNV T547T 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 0.554 150431 chr19 17566595 17566595 T C NXNL1 Nonsynonymous SNV E167G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 150432 chr22 45258303 45258303 A T rs527743751 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV Y377F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 21.2 150433 chr19 17927854 17927854 A G rs201125714 INSL3 Nonsynonymous SNV W69R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.262 150434 chr3 138665298 138665298 C A FOXL2 Synonymous SNV P89P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 150435 chr3 25833320 25833320 A G rs75506928 OXSM Nonsynonymous SNV K270R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 150436 chr3 25835983 25835983 T C rs9851096 OXSM X460Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23 150437 chr17 45490275 45490275 C T rs117421268 EFCAB13 Synonymous SNV N709N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.548 150438 chr17 45776072 45776072 C G rs201538952 TBKBP1 Nonsynonymous SNV P189A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.084 150439 chr2 70408938 70408938 A G rs3821274 C2orf42 Synonymous SNV S60S 0.003 0.003 0.003 0 4 1 0 1 1 0 0 0 0.028 150440 chr3 33118596 33118596 C T rs13079744 GLB1 Nonsynonymous SNV R70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.542 150441 chr19 19737564 19737564 C T rs893509279 LPAR2 Nonsynonymous SNV R177H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 150442 chr3 35778794 35778794 G A rs369355620 ARPP21 Synonymous SNV P474P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 150443 chr22 50502573 50502573 C T rs145180481 MLC1 Nonsynonymous SNV G317S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.527 150444 chr3 36874972 36874972 G A rs150860159 TRANK1 Synonymous SNV F1990F 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 0.029 150445 chr3 37367989 37367989 A G rs138450063 GOLGA4 Nonsynonymous SNV T1538A 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 0.096 150446 chr3 37860438 37860438 A G rs144041543 ITGA9 Synonymous SNV K1022K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.13 150447 chr3 15272016 15272016 C T rs746261585 CAPN7 Nonsynonymous SNV L336F 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 150448 chr3 155303940 155303940 C T PLCH1 Nonsynonymous SNV G160S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 150449 chr3 128721007 128721007 C T rs563646191 EFCC1 Nonsynonymous SNV P179L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 150450 chr19 22786153 22786153 G A rs186419476 GOLGA2P9 0 0 0.017 0 0 0 0 5 0 0 0 0 2.177 150451 chr15 58855767 58855767 C T rs79985029 LIPC Synonymous SNV G411G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.71 150452 chr3 15677031 15677031 G A rs752641015 BTD Nonsynonymous SNV V29M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.299 150453 chr19 23543206 23543206 A G rs201887473 ZNF91 Nonsynonymous SNV C827R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 150454 chr15 62253878 62253878 T C rs114138011 VPS13C Nonsynonymous SNV N1230S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.7 150455 chr19 2878015 2878015 G A rs143860844 ZNF556 Synonymous SNV A352A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.345 150456 chr3 39170418 39170418 G A TTC21A Nonsynonymous SNV E590K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 150457 chr2 84926756 84926756 G A rs74514752 DNAH6 Synonymous SNV L2572L 0.012 0.01 0 3 14 4 0.008 0 0 0 0 0 Benign 11.85 150458 chr3 164741558 164741558 A G SI Nonsynonymous SNV S967P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.117 150459 chr3 40208682 40208682 C A MYRIP Nonsynonymous SNV D40E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.33 150460 chr3 40557940 40557940 C T rs139782096 ZNF620 Synonymous SNV C171C 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 9.078 150461 chr19 33350807 33350807 G A rs371236313 SLC7A9 Synonymous SNV N271N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.82 150462 chr2 179634522 179634522 A C rs757111808 TTN Nonsynonymous SNV I2883R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.98 150463 chr2 105959508 105959508 A G rs781045521 C2orf49 Nonsynonymous SNV N157S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.523 150464 chr19 3452644 3452644 G T rs10412720 NFIC Nonsynonymous SNV A417S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.14 150465 chr19 3478418 3478418 T C rs56801248 SMIM24 Nonsynonymous SNV S80G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.15 150466 chr3 447217 447217 C T CHL1 Synonymous SNV S1113S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 150467 chr3 4418023 4418023 C A SUMF1 Nonsynonymous SNV M310I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 150468 chr3 44952864 44952864 C G rs771893805 TGM4 Nonsynonymous SNV L627V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 150469 chr17 62018952 62018952 C T rs202106192 SCN4A Nonsynonymous SNV V1564I 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.024 150470 chr3 45515747 45515747 G A rs201911936 LARS2 Nonsynonymous SNV A255T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 21.3 150471 chr3 1424770 1424770 C T CNTN6 Synonymous SNV L667L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.67 150472 chr19 36277667 36277667 C T rs771553956 ARHGAP33 Synonymous SNV A629A 0 0 0.003 0 0 0 0 1 0 0 0 0 13 150473 chr2 137988626 137988626 C T rs79443131 THSD7B Nonsynonymous SNV S579L 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 23.4 150474 chr2 120980210 120980210 C T rs567470609 TMEM185B Nonsynonymous SNV V115I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 150475 chr19 36853100 36853100 T C rs201151846 ZFP14 Nonsynonymous SNV Q17R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.85 150476 chr19 36912179 36912180 AA - rs796865334 LOC644189 0 0 0.01 0 0 0 0 3 0 0 0 0 150477 chr3 189713110 189713110 T C rs763378470 P3H2 Nonsynonymous SNV Q20R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 150478 chr17 71431681 71431681 C T rs759437295 SDK2 Nonsynonymous SNV S368N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 150479 chr3 153220301 153220301 G A C3orf79 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.217 150480 chr3 48369826 48369826 C A SPINK8 Nonsynonymous SNV K2N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.9 150481 chr3 193372741 193372741 A G OPA1 Synonymous SNV S610S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.983 150482 chr19 3751082 3751082 G A rs145673183 APBA3 Nonsynonymous SNV T557M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 150483 chr2 20153664 20153664 C T rs200385344 WDR35 Nonsynonymous SNV R444H 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 23.4 150484 chr3 49569897 49569897 C T DAG1 Synonymous SNV T651T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.731 150485 chr19 3807211 3807211 T C rs764240875 ZFR2 Nonsynonymous SNV M868V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.8 150486 chr3 49946757 49946757 G A rs745980460 MON1A Nonsynonymous SNV R421C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 150487 chr3 49569252 49569252 G A rs143763229 DAG1 Synonymous SNV T436T 0.001 0.008 0.01 0 1 3 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.9 150488 chr19 3831441 3831441 C A rs561933629 ZFR2 Nonsynonymous SNV A238S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 150489 chr3 50327726 50327726 C G IFRD2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 150490 chr3 50327883 50327883 G C IFRD2 Nonsynonymous SNV Q131E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.84 150491 chr2 160840524 160840524 C T rs200779806 PLA2R1 Nonsynonymous SNV E700K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 150492 chr3 113753937 113753937 G A rs150210060 CCDC191 Nonsynonymous SNV T196I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 12.85 150493 chr19 38384969 38384969 A G rs756976877 WDR87 Synonymous SNV F458F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.011 150494 chr3 114014600 114014600 C T rs61741540 TIGIT Synonymous SNV G90G 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 10.53 150495 chr3 172064181 172064181 C G rs145337459 FNDC3B Nonsynonymous SNV A772G 0 0.005 0 0 0 2 0 0 0 0 0 0 14.03 150496 chr3 51680457 51680457 C A RAD54L2 Nonsynonymous SNV Q996K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 150497 chr2 149854982 149854982 C T rs6726682 KIF5C Synonymous SNV D723D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 12.84 150498 chr3 52233390 52233390 C A rs202007599 ALAS1 Nonsynonymous SNV P45T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 150499 chr17 74071221 74071221 A G rs139644215 GALR2 Nonsynonymous SNV Y86C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 150500 chr2 152348944 152348944 G A NEB Nonsynonymous SNV P6421L 0.006 0 0 3 7 0 0.008 0 0 0 0 0 33 150501 chr19 39230852 39230852 C T rs62617084 CAPN12 Nonsynonymous SNV G190S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 150502 chr19 39306529 39306529 C T rs58750431 ECH1 Nonsynonymous SNV D284N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 23.3 150503 chr19 3942110 3942110 G A rs16992131 NMRK2 Nonsynonymous SNV E183K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 150504 chr19 40363883 40363883 C T rs149938362 FCGBP Nonsynonymous SNV S4920N 0 0 0.007 0 0 0 0 2 0 0 0 0 12.17 150505 chr2 158162295 158162295 T C rs146941427 GALNT5 Nonsynonymous SNV I825T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.83 150506 chr3 121712099 121712099 C T rs144649620 ILDR1 Synonymous SNV S410S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.24 150507 chr3 53856666 53856666 T C rs774565339 CHDH Nonsynonymous SNV K236R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.375 150508 chr19 41082848 41082848 G A SHKBP1 Nonsynonymous SNV G15R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 150509 chr19 41198071 41198071 G A rs953899645 COQ8B Nonsynonymous SNV L461F 0 0 0.007 0 0 0 0 2 0 0 0 0 27.5 150510 chr2 171375968 171375968 C T rs56052422 MYO3B Nonsynonymous SNV R1138C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.53 150511 chr19 42433023 42433023 C T LOC100505585 0 0 0.003 0 0 0 0 1 0 0 0 0 34 150512 chr3 38357847 38357847 C T rs114208565 SLC22A14 Nonsynonymous SNV S522L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.017 150513 chr2 175213362 175213362 G A rs762930010 CIR1 Nonsynonymous SNV R406W 0 0 0 1 0 0 0.003 0 0 0 0 0 9.305 150514 chr19 42912397 42912397 G A rs150594707 LIPE Synonymous SNV N499N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 150515 chr3 58625882 58625882 T C rs145354744 FAM3D Synonymous SNV G115G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.003 150516 chr15 91528006 91528006 G C rs149781966 PRC1 Nonsynonymous SNV H21D 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 23 150517 chr3 63638405 63638405 C T SNTN Synonymous SNV H14H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.17 150518 chr3 65456156 65456156 T A rs62255275 MAGI1 Nonsynonymous SNV D254V 0.008 0.013 0 0 9 5 0 0 0 0 0 0 19.6 150519 chr2 17692190 17692190 G A rs370709143 RAD51AP2 Stop gain R1121X 0 0 0 1 0 0 0.003 0 0 0 0 0 41 150520 chr3 66433722 66433722 G A rs78198874 LRIG1 Synonymous SNV T725T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 9.881 150521 chr3 66433484 66433484 C T rs148095422 LRIG1 Nonsynonymous SNV V805I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.1 150522 chr2 219258855 219258855 G A rs145979016 SLC11A1 Nonsynonymous SNV V443M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 150523 chr17 78172198 78172198 C T rs139274935 CARD14 Synonymous SNV S316S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 6.92 150524 chr19 44514422 44514422 C T rs146185685 ZNF230 Synonymous SNV G77G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.522 150525 chr2 179435527 179435527 A G rs879132850 TTN Nonsynonymous SNV I16046T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.14 150526 chr19 44611658 44611658 G A rs146457821 ZNF224 Nonsynonymous SNV V449I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.27 150527 chr3 42577742 42577742 C G rs923331423 VIPR1 Nonsynonymous SNV S238C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 150528 chr3 8675493 8675493 C T rs148174980 SSUH2 Synonymous SNV S44S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.848 150529 chr3 9032383 9032383 G T SRGAP3 Nonsynonymous SNV P876H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.3 150530 chr3 97634465 97634465 A G rs17302349 CRYBG3 Nonsynonymous SNV Y2709C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.643 150531 chr3 194991563 194991563 C A rs769809928 XXYLT1 Synonymous SNV R75R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 150532 chr3 43591326 43591326 C G rs141040660 ANO10 Synonymous SNV T450T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.27 150533 chr3 98240202 98240202 T C rs768533422 CLDND1 Nonsynonymous SNV M23V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 150534 chr17 79517931 79517931 G A rs754517998 FAAP100 Synonymous SNV L197L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.512 150535 chr2 178592864 178592864 C T rs77934668 PDE11A Nonsynonymous SNV D165N 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 24.5 150536 chr19 4517636 4517636 C T rs561504143 PLIN4 Synonymous SNV S42S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.118 150537 chr2 186654047 186654047 T C FSIP2 Synonymous SNV S728S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.931 150538 chr19 46825035 46825035 A G rs758627684 HIF3A Nonsynonymous SNV T314A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 150539 chr4 103522150 103522150 G A rs4648086 NFKB1 Nonsynonymous SNV R578K 0.003 0 0 0 3 0 0 0 0 0 0 0 18.74 150540 chr3 47908815 47908815 G A rs150907099 MAP4 Nonsynonymous SNV S996F 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 31 150541 chr4 106196381 106196381 C T rs764470309 TET2 Nonsynonymous SNV R1572W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.2 150542 chr19 47883093 47883093 C T rs146592126 DHX34 Nonsynonymous SNV R945W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 150543 chr3 36779993 36779993 C T rs777295349 DCLK3 Nonsynonymous SNV R53H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.659 150544 chr4 110453860 110453860 G A SEC24B Synonymous SNV K1117K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.99 150545 chr4 113362249 113362249 A G rs573275852 ALPK1 Nonsynonymous SNV M1161V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 150546 chr19 48800716 48800716 - GCG rs761748771 CCDC114 A510_K511insA 0.001 0 0.003 0 1 0 0 1 0 0 0 0 150547 chr3 49313882 49313882 T C rs149243117 C3orf62 Nonsynonymous SNV N142D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.054 150548 chr2 196865507 196865507 A G rs201322560 DNAH7 Nonsynonymous SNV I425T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.15 150549 chr3 49568754 49568754 T C DAG1 Synonymous SNV S270S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 150550 chr2 197767317 197767317 A G PGAP1 Nonsynonymous SNV S267P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 150551 chr2 203847024 203847024 A C rs201737264 CARF Nonsynonymous SNV Q296P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.74 150552 chr2 204161543 204161543 C G rs777041136 CYP20A1 Nonsynonymous SNV S267C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 150553 chr2 206364664 206364664 G A rs375059681 PARD3B Nonsynonymous SNV R961Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 150554 chr19 49575499 49575499 G T rs573125069 KCNA7 Nonsynonymous SNV P115Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.96 150555 chr2 240960710 240960710 T C rs780163093 NDUFA10 Nonsynonymous SNV R122G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.375 150556 chr16 4411224 4411224 C T rs34646368 CORO7, CORO7-PAM16 Synonymous SNV L486L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.9 150557 chr4 126398388 126398388 C T FAT4 Synonymous SNV H4126H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 150558 chr2 209190430 209190430 G A rs149763308 PIKFYVE Synonymous SNV A965A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.318 150559 chr2 208591599 208591599 A T CCNYL1 Nonsynonymous SNV H110L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.86 150560 chr4 13545891 13545891 A C rs371597026 NKX3-2 Nonsynonymous SNV C50G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.276 150561 chr2 208631991 208631991 G A rs148996330 FZD5 Synonymous SNV T491T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 150562 chr16 4924895 4924895 A G rs6500638 UBN1 Synonymous SNV Q828Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.114 150563 chr18 31319874 31319874 C A rs372049676 ASXL3 Nonsynonymous SNV Q836K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.43 150564 chr16 4935576 4935576 C T rs139002459 PPL Nonsynonymous SNV R1027Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.5 150565 chr16 4935850 4935850 C G rs61744956 PPL Nonsynonymous SNV E936Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 25.4 150566 chr16 4941889 4941889 G A rs34936263 PPL Nonsynonymous SNV H631Y 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 0.008 150567 chr3 46009352 46009352 G A rs143704916 FYCO1 Nonsynonymous SNV R492W 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 Benign/Likely benign 23.5 150568 chr16 5077291 5077291 T A rs367664804 NAGPA Nonsynonymous SNV S422C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.6 150569 chr19 51828611 51828611 A G rs375253282 IGLON5 Nonsynonymous SNV I135V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 150570 chr4 153691528 153691528 C T rs139871778 TIGD4 Nonsynonymous SNV C210Y 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 20.6 150571 chr16 12121263 12121263 T A rs763084719 SNX29 Nonsynonymous SNV I70N 0 0 0 2 0 0 0.005 0 0 0 0 1 24.4 150572 chr16 14029588 14029588 G A ERCC4 Nonsynonymous SNV G600E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 150573 chr19 52825793 52825793 T C rs139533207 ZNF480 Synonymous SNV N387N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.111 150574 chr3 184076765 184076765 C T rs144412275 CLCN2 Nonsynonymous SNV R73H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.73 150575 chr4 1656934 1656934 G A rs201660800 FAM53A Nonsynonymous SNV T218M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 150576 chr3 49756425 49756425 C T AMIGO3 Synonymous SNV A158A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 150577 chr2 220032960 220032960 G A rs368182833 SLC23A3 Nonsynonymous SNV T252M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 150578 chr19 52941324 52941324 G A rs151189562 ZNF534 Nonsynonymous SNV R176H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 150579 chr3 184700368 184700368 G A rs201685683 VPS8 Synonymous SNV P1132P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 150580 chr3 50385188 50385188 A T NPRL2 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 150581 chr3 50413463 50413463 G C CACNA2D2 Synonymous SNV T568T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.68 150582 chr4 174219290 174219290 A T rs17059278 GALNT7 Synonymous SNV I330I 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 0.021 150583 chr3 9991789 9991789 C G rs748738177 PRRT3 Nonsynonymous SNV S4T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.42 150584 chr2 220494054 220494062 GAGGAAGAG - rs773479687 SLC4A3 E143_E145del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 150585 chr3 52505935 52505935 A G rs143979580 NISCH Nonsynonymous SNV D172G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 150586 chr4 17707473 17707473 G A rs61741465 FAM184B Nonsynonymous SNV R358W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 150587 chr18 61562568 61562568 G A rs138183373 SERPINB2 Nonsynonymous SNV G80E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 150588 chr19 54307292 54307292 G T rs139956424 NLRP12 Nonsynonymous SNV D834E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.9 150589 chr16 22335879 22335879 A G rs779398671 POLR3E Nonsynonymous SNV N359S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.37 150590 chr4 175229888 175229888 A G rs139331696 CEP44 Nonsynonymous SNV I186V 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 0.002 150591 chr16 23409402 23409402 C T rs145412851 COG7 Nonsynonymous SNV A618T 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 14.47 150592 chr4 176733326 176733326 G A rs371268534 LOC101928590 0.001 0 0 0 1 0 0 0 0 0 0 0 9.358 150593 chr4 185678381 185678381 G A rs373696103 ACSL1 Synonymous SNV I631I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.37 150594 chr2 230724025 230724025 G A TRIP12 Synonymous SNV L122L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.898 150595 chr19 55054957 55054957 A T rs537238931 KIR3DX1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.781 150596 chr19 55439089 55439089 G A rs375946761 NLRP7 Synonymous SNV L955L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.562 150597 chr4 187005057 187005057 T C rs116269970 TLR3 Synonymous SNV H739H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.018 150598 chr19 55556637 55556637 G T rs113172282 RDH13 Synonymous SNV A267A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 6.141 150599 chr4 110612040 110612040 T C CASP6 Synonymous SNV G114G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.189 150600 chr19 55945072 55945072 G A rs548198173 SHISA7 Synonymous SNV G356G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.157 150601 chr3 77666893 77666893 G A rs775770302 ROBO2 Nonsynonymous SNV A1175T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 150602 chr19 56109205 56109205 A T FIZ1 Synonymous SNV P9P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.345 150603 chr4 2175745 2175745 C T rs756794732 POLN Synonymous SNV V437V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.456 150604 chr4 2242354 2242354 T C HAUS3 Nonsynonymous SNV Q107R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 150605 chr3 37512623 37512623 G T rs775282230 ITGA9 Nonsynonymous SNV R104L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 150606 chr4 128861133 128861133 T C rs115275192 MFSD8 Synonymous SNV T153T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 2.712 150607 chr2 237405809 237405809 G A IQCA1 Synonymous SNV A111A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.345 150608 chr4 30724631 30724631 C T rs144038230 PCDH7 Synonymous SNV N529N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.564 150609 chr3 9948497 9948497 G A rs181725341 IL17RE Synonymous SNV S42S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 150610 chr2 238969711 238969711 G A rs147010013 SCLY Nonsynonymous SNV A6T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.767 150611 chr3 38913124 38913124 C T rs199670122 SCN11A Nonsynonymous SNV V1191I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 12.3 150612 chr4 38799342 38799342 G A rs201398822 TLR1 Nonsynonymous SNV L371F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 150613 chr16 57761311 57761311 G A rs200880531 DRC7 Nonsynonymous SNV R664Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 150614 chr19 1114324 1114324 A G rs61742575 SBNO2 Synonymous SNV P604P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.155 150615 chr19 5788085 5788085 C T rs141881706 DUS3L Nonsynonymous SNV E107K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 32 150616 chr4 38879895 38879895 A G rs139197115 FAM114A1 Nonsynonymous SNV I66V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 150617 chr4 154519776 154519776 G A rs370274940 TMEM131L Nonsynonymous SNV E720K 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 25.8 150618 chr4 39466824 39466824 T G LIAS 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 150619 chr4 155219069 155219069 C A rs751780495 DCHS2 Stop gain E2133X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 43 150620 chr19 2111759 2111761 CTT - rs763068481 AP3D1 K890del 0.001 0 0 0 1 0 0 0 0 0 0 0 150621 chr19 2116736 2116736 C T rs374053726 AP3D1 Synonymous SNV L623L 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Likely benign 6.676 150622 chr2 241873236 241873236 G A rs115927138 CROCC2 Nonsynonymous SNV R538Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.002 150623 chr16 67298296 67298296 G A rs369514722 SLC9A5 Synonymous SNV A527A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 150624 chr2 86310210 86310210 T C rs372872537 POLR1A Nonsynonymous SNV N271S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 150625 chr2 242439652 242439652 C G rs150411240 STK25 Synonymous SNV L121L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 14.17 150626 chr19 650293 650293 G A rs1050726702 RNF126 Synonymous SNV I122I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.49 150627 chr4 162307032 162307032 C G FSTL5 Nonsynonymous SNV G794A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.1 150628 chr2 25384456 25384456 - GCCGCTGCTGCCGCTGCT rs10654394 POMC G99_A100insSSGSSG 0.001 0 0 0 1 0 0 0 0 0 0 0 150629 chr4 113360925 113360925 G A rs55840220 ALPK1 Synonymous SNV T1067T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 150630 chr19 7542278 7542278 T G rs780494793 PEX11G Nonsynonymous SNV Q109P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.276 150631 chr3 46480958 46480958 C A rs2073495 LTF Nonsynonymous SNV E535D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.009 150632 chr4 6296880 6296880 G A rs566634291 WFS1 Synonymous SNV A275A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 14.14 150633 chr3 47164030 47164030 T C rs368132877 SETD2 Nonsynonymous SNV D655G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 150634 chr19 829608 829608 C T rs202068638 AZU1 Nonsynonymous SNV R88W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 150635 chr19 843597 843597 G T rs145358114 PRTN3 Synonymous SNV V66V 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 Benign 9.156 150636 chr2 29375614 29375614 C T rs963735735 CLIP4 Nonsynonymous SNV T362I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.04 150637 chr2 29383232 29383232 A G CLIP4 Nonsynonymous SNV N478S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 150638 chr19 855960 855960 G A rs144391144 ELANE Synonymous SNV G200G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.834 150639 chr3 112357078 112357078 C A rs145200206 CCDC80 Nonsynonymous SNV A559S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.163 150640 chr2 30682555 30682555 C T rs542596193 LCLAT1 Nonsynonymous SNV T26M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.42 150641 chr2 39088571 39088571 T G rs773447079 DHX57 Synonymous SNV P225P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.886 150642 chr4 153809324 153809324 G A rs148993045 ARFIP1 Synonymous SNV L245L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 11.69 150643 chr3 52540842 52540842 C T rs142156085 STAB1 Synonymous SNV S655S 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 18.96 150644 chr4 75023866 75023866 C G rs1007261045 MTHFD2L Nonsynonymous SNV P4R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 150645 chr16 84495542 84495542 G T rs116806343 ATP2C2-AS1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.313 150646 chr16 84495704 84495704 G C rs62640935 ATP2C2 Nonsynonymous SNV R746S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 8.479 150647 chr16 84495733 84495733 T C rs16973859 ATP2C2 Nonsynonymous SNV L756P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 18.78 150648 chr4 7719870 7719870 G A rs145113042 SORCS2 Nonsynonymous SNV R795Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.91 150649 chr2 38302015 38302015 C T rs72481807 CYP1B1 Nonsynonymous SNV E173K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 34 150650 chr19 8400095 8400095 T G rs757233051 KANK3 Nonsynonymous SNV T206P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.78 150651 chr16 84531664 84531664 C A rs8046813 MEAK7 Nonsynonymous SNV R10L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 19.79 150652 chr4 3148624 3148624 G C rs1065746 HTT Nonsynonymous SNV D1082H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 28.1 150653 chr16 87432453 87432453 G C rs113610787 MAP1LC3B Nonsynonymous SNV E25Q 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 17.22 150654 chr4 81124299 81124299 C T rs150632206 PRDM8 Synonymous SNV S561S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 4.885 150655 chr4 81791209 81791209 T C rs34840815 CFAP299 Synonymous SNV Y132Y 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.007 150656 chr4 164087753 164087753 G A rs12331663 NAF1 Nonsynonymous SNV P43S 0.003 0.013 0.007 0 3 5 0 2 0 0 0 0 11.42 150657 chr4 81791226 81791226 C T rs11947742 CFAP299 Nonsynonymous SNV T138M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.348 150658 chr4 164436515 164436515 G A rs76050545 TMA16 Nonsynonymous SNV S97N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 25.5 150659 chr4 81967101 81967101 C A rs34213771 BMP3 Nonsynonymous SNV Q176K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 1.751 150660 chr16 88497219 88497219 G T rs568046708 ZNF469 Nonsynonymous SNV R1114L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 23.2 150661 chr4 81967240 81967240 C T rs34505126 BMP3 Nonsynonymous SNV T222M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 23.7 150662 chr2 48687283 48687283 C T rs765821775 PPP1R21 Nonsynonymous SNV T197M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 150663 chr1 10704993 10704993 G A rs369753421 CASZ1 Synonymous SNV R1283R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.78 150664 chr4 1720081 1720081 G C rs370546428 TMEM129 Nonsynonymous SNV P160A 0 0.005 0 0 0 2 0 0 0 0 0 0 6.115 150665 chr2 54587509 54587513 AACAA - rs778682750 C2orf73 Q105Ffs*8 0.001 0 0 1 1 0 0.003 0 0 0 0 0 150666 chr3 78766524 78766524 A G rs80030397 ROBO1 Nonsynonymous SNV V234A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 150667 chr2 55825807 55825807 G A rs754222273 PPP4R3B Synonymous SNV V222V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.3 150668 chr4 86491698 86491698 G A ARHGAP24 Nonsynonymous SNV E2K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 150669 chr2 71148326 71148326 C T rs145436494 VAX2 Nonsynonymous SNV R116C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 150670 chr4 48501613 48501613 C T rs184250541 FRYL Synonymous SNV T2956T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 9.802 150671 chr2 65217251 65217251 G A rs374368836 SLC1A4 Synonymous SNV S158S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.37 150672 chr19 9075620 9075620 C T MUC16 Synonymous SNV E3942E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.362 150673 chr1 111889599 111889599 G A rs778785974 PIFO Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 150674 chr19 9076546 9076546 G A rs191804178 MUC16 Nonsynonymous SNV R3634C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 150675 chr2 68521067 68521067 G A CNRIP1 Nonsynonymous SNV S112F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 150676 chr4 96761517 96761517 G A PDHA2 Nonsynonymous SNV M72I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 150677 chr4 187454894 187454894 T A rs138837121 MTNR1A Nonsynonymous SNV K334N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.33 150678 chr17 1584797 1584797 G A PRPF8 Nonsynonymous SNV P281S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 150679 chr3 130282000 130282000 C G rs756803709 COL6A6 Synonymous SNV T51T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.627 150680 chr4 6695734 6695734 G A rs73089273 S100P Synonymous SNV T25T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 9.42 150681 chr3 132361539 132361539 G A rs141617993 ACAD11 Synonymous SNV Y119Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.615 150682 chr2 74594962 74594962 T C DCTN1 Nonsynonymous SNV Y548C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 150683 chr2 75094836 75094836 T A rs761378616 HK2 Nonsynonymous SNV N100K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.51 150684 chr17 3324255 3324255 C T rs769432 OR3A3 Nonsynonymous SNV L132F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.33 150685 chr19 11727950 11727950 G A rs150614133 ZNF627 Nonsynonymous SNV R101H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.3 150686 chr1 1216655 1216655 G A rs758651154 SCNN1D Nonsynonymous SNV G19S 0 0 0.007 0 0 0 0 2 0 0 0 0 1.789 150687 chr3 137849808 137849808 G T rs146018238 A4GNT Synonymous SNV P97P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.476 150688 chr2 97357244 97357244 C T FER1L5 Synonymous SNV L990L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.742 150689 chr5 1214142 1214142 C T rs201416473 SLC6A19 Synonymous SNV F283F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 150690 chr19 13930236 13930236 C T rs777464985 ZSWIM4 Nonsynonymous SNV R547C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 150691 chr4 3076613 3076618 CAGCAG - HTT Q37_Q38del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 150692 chr4 113568424 113568424 A G rs766587064 LARP7 Nonsynonymous SNV E239G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.12 150693 chr17 4448462 4448462 G A rs148999986 MYBBP1A Synonymous SNV S723S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.41 150694 chr19 15121713 15121713 C G CCDC105 Nonsynonymous SNV Q26E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 150695 chr5 131054750 131054750 G A rs61738669 FNIP1 Synonymous SNV S108S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.28 150696 chr5 131302124 131302124 G A rs73264077 ACSL6 Synonymous SNV I466I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 150697 chr3 150845761 150845761 T C rs200140229 MED12L Synonymous SNV D182D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.757 150698 chr5 132736536 132736536 G A rs147787800 FSTL4 Synonymous SNV C101C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.4 150699 chr4 47556908 47556908 G A rs140450965 ATP10D Nonsynonymous SNV A601T 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 12.41 150700 chr1 152082191 152082191 T G rs756501254 TCHH Synonymous SNV R1168R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.632 150701 chr5 138773218 138773218 A T rs767993625 DNAJC18 Nonsynonymous SNV Y24N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 150702 chr4 57340271 57340271 G A rs145817936 SRP72 Nonsynonymous SNV V136I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 14.1 150703 chr1 154842330 154842330 - TGC KCNN3 Q41_P42insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 150704 chr5 139937015 139937015 G A rs771291291 SRA1 Nonsynonymous SNV P20L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 150705 chr1 155175067 155175067 G A rs371556768 THBS3 Synonymous SNV A109A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 16.65 150706 chr1 155448077 155448077 A G rs1035384783 ASH1L Synonymous SNV Y1528Y 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.049 150707 chr3 113514783 113514783 T C rs187593867 ATP6V1A Synonymous SNV V429V 0 0 0 3 0 0 0.008 0 0 0 0 0 7.279 150708 chr1 155891242 155891242 G C rs756058552 KHDC4 Nonsynonymous SNV A397G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 150709 chr5 140248791 140248791 G C rs192388233 PCDHA11 Nonsynonymous SNV V35L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 150710 chr17 8045269 8045269 T C rs371555324 PER1 Nonsynonymous SNV M1152V 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 9.565 150711 chr4 6826228 6826228 C G rs111811307 KIAA0232 Nonsynonymous SNV S16R 0 0.005 0 0 0 2 0 0 0 0 0 0 24.7 150712 chr5 140751881 140751881 G A rs369724462 PCDHGB3 Synonymous SNV Q640Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 150713 chr5 140795248 140795248 A G rs776632782 PCDHGA10 Nonsynonymous SNV M836V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.821 150714 chr5 140750849 140750849 T G rs201701201 PCDHGB3 Nonsynonymous SNV S296R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.011 150715 chr5 109904159 109904159 T G TMEM232 Nonsynonymous SNV N482H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.133 150716 chr5 141243213 141243213 C T PCDH1 Nonsynonymous SNV D516N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 150717 chr3 121712015 121712015 C T rs142243054 ILDR1 Synonymous SNV G438G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign/Likely benign 11.6 150718 chr3 122003411 122003411 G A rs143738711 CASR Synonymous SNV E870E 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 2 150719 chr1 157557269 157557269 T C rs144386002 FCRL4 Nonsynonymous SNV Q215R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.975 150720 chr1 158054274 158054274 C A rs769514849 KIRREL1 Nonsynonymous SNV H39N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.99 150721 chr3 122269544 122269544 C T rs146564634 PARP9 Nonsynonymous SNV E440K 0 0 0 4 0 0 0.01 0 0 0 0 0 Benign 0.086 150722 chr5 148421072 148421072 G A SH3TC2 Nonsynonymous SNV A213V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.093 150723 chr4 76924754 76924754 T C rs138184008 CXCL9 Synonymous SNV T125T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.126 150724 chr1 159175684 159175684 C T rs147620003 ACKR1 Nonsynonymous SNV S154F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.9 150725 chr3 128976409 128976409 C A rs763167360 COPG1 Nonsynonymous SNV P226T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 150726 chr5 127686571 127686571 C T rs376194507 FBN2 Nonsynonymous SNV R934Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 150727 chr3 12857408 12857408 C G rs201739910 CAND2 Nonsynonymous SNV R355G 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 150728 chr5 151202530 151202530 A G rs767322398 GLRA1 Nonsynonymous SNV F360L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 150729 chr3 195974283 195974283 C T rs533990347 PCYT1A Synonymous SNV R147R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16.69 150730 chr5 150943178 150943178 G A FAT2 Synonymous SNV P1094P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 150731 chr3 132061458 132061470 GAGTAAAGTCTAC - rs751367677 ACPP S174Tfs*22 0.001 0 0.003 0 1 0 0 1 0 0 0 0 150732 chr5 154308103 154308103 C T rs888370678 GEMIN5 Nonsynonymous SNV V299I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 150733 chr5 156899917 156899917 C T rs771761914 NIPAL4 Synonymous SNV A431A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.103 150734 chr19 36269200 36269200 C T rs201365669 ARHGAP33 Nonsynonymous SNV R70C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 150735 chr19 36317463 36317463 G C rs761873205 NPHS1 Nonsynonymous SNV L1227V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 150736 chr5 161529584 161529584 G C rs1037752437 GABRG2 Nonsynonymous SNV G219A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 150737 chr3 134968280 134968280 C T rs199952206 EPHB1 Synonymous SNV S931S 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 14.61 150738 chr5 13913934 13913934 T C DNAH5 Nonsynonymous SNV D485G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 150739 chr17 26684785 26684785 G C rs782531869 TMEM199 Nonsynonymous SNV R31P 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Pathogenic 25 150740 chr1 174926602 174926602 C G rs754726881 RABGAP1L Synonymous SNV T40T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 150741 chr3 141163946 141163946 G A rs778141474 ZBTB38 Nonsynonymous SNV A906T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 150742 chr5 16764386 16764386 G A rs200752903 MYO10 Synonymous SNV L433L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.58 150743 chr5 169454899 169454899 C T rs148138145 DOCK2 Synonymous SNV H1138H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.92 150744 chr1 17690083 17690083 C T rs142092052 PADI4 Nonsynonymous SNV R609C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 150745 chr3 39162561 39162561 A G rs201536754 TTC21A Nonsynonymous SNV Y284C 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 1.518 150746 chr17 30325838 30325838 C T rs139363631 SUZ12 Nonsynonymous SNV T656I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 150747 chr5 176860557 176860557 G A rs755703477 GRK6 Synonymous SNV R206R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.506 150748 chr5 140750888 140750888 T C PCDHGB3 Synonymous SNV F309F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.015 150749 chr4 36285875 36285875 T C DTHD1 Synonymous SNV H183H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 150750 chr5 176310790 176310790 G A rs140261586 HK3 Synonymous SNV C678C 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.93 150751 chr5 141694601 141694601 G A rs753427357 SPRY4 Nonsynonymous SNV R25W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 150752 chr17 33884389 33884389 A C SLFN14 Stop gain Y231X 0 0 0 3 0 0 0.008 0 0 0 0 0 36 150753 chr17 33904286 33904286 G A rs138731505 PEX12 Nonsynonymous SNV R151C 0 0 0 4 0 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 150754 chr3 160807840 160807840 G A rs113897966 B3GALNT1 Nonsynonymous SNV S73F 0.01 0.01 0 2 12 4 0.005 0 0 0 0 0 6.297 150755 chr5 179331796 179331796 G A rs764466274 TBC1D9B Synonymous SNV T45T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 150756 chr5 14712971 14712971 C T rs560864526 LOC100130744 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.357 150757 chr19 42880839 42880839 G C rs747008772 MEGF8 Nonsynonymous SNV G2750A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.96 150758 chr19 44056243 44056243 G A rs201954068 XRCC1 Synonymous SNV S336S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.689 150759 chr3 45751059 45751059 A G rs764356830 SACM1L Nonsynonymous SNV T74A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.52 150760 chr3 180322041 180322041 C T rs138114640 TTC14 Nonsynonymous SNV S172F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 32 150761 chr3 46497312 46497312 G A rs148941436 LTF Nonsynonymous SNV T114M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.022 150762 chr5 149769526 149769526 C T rs753567046 TCOF1 Synonymous SNV S964S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 150763 chr5 149771561 149771561 G A rs147074393 TCOF1 Synonymous SNV Q1036Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.976 150764 chr3 183963306 183963306 A G ALG3 Nonsynonymous SNV Y84H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 150765 chr5 132200021 132200021 G A rs370586524 GDF9 Synonymous SNV L69L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.648 150766 chr3 180323583 180323583 C T rs772486925 TTC14 Nonsynonymous SNV S296F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.93 150767 chr5 41004961 41004961 T A rs748518035 MROH2B Nonsynonymous SNV D1309V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.9 150768 chr5 41004962 41004962 C A rs772423319 MROH2B Nonsynonymous SNV D1309Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.5 150769 chr3 183954151 183954151 C T rs746747709 VWA5B2 Synonymous SNV C192C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.04 150770 chr5 159519662 159519662 G A rs377429336 PWWP2A Synonymous SNV G665G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.033 150771 chr3 193272445 193272454 GTGTGTGTGT - ATP13A4-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 150772 chr3 52522119 52522119 G A rs138593477 NISCH Nonsynonymous SNV A871T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.93 150773 chr5 140236149 140236149 T G rs201902460 PCDHA10 Nonsynonymous SNV S172R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24 150774 chr3 52727518 52727518 A G GNL3 Nonsynonymous SNV N428D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.476 150775 chr3 52824890 52824890 A G rs200534290 ITIH1 Nonsynonymous SNV Y528C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 28.7 150776 chr5 60448756 60448756 C T rs765241458 NDUFAF2 Stop gain R162X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 40 150777 chr3 186505516 186505516 G A rs186300039 SNORA4 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.083 150778 chr3 196281210 196281210 G C rs148910267 WDR53 Nonsynonymous SNV P156A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.81 150779 chr3 53346319 53346319 G C rs779714069 DCP1A Synonymous SNV P33P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.916 150780 chr5 171509487 171509487 G A rs113809101 STK10 Nonsynonymous SNV T611M 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.026 150781 chr3 56330164 56330164 G A rs369940802 ERC2 Synonymous SNV S319S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.638 150782 chr5 6372688 6372688 T C rs369192512 MED10 Synonymous SNV E112E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 8.359 150783 chr4 7435944 7435944 G A PSAPL1 Synonymous SNV A221A 0.004 0 0 0 5 0 0 0 0 0 0 0 10.03 150784 chr5 71622515 71622515 A G rs755869092 PTCD2 Synonymous SNV L99L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.357 150785 chr5 141699315 141699315 G A SPRY4 Nonsynonymous SNV P6S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.585 150786 chr3 57148804 57148804 C T rs541423556 IL17RD Nonsynonymous SNV A76T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 23.6 150787 chr19 49183619 49183619 C T SEC1P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.08 150788 chr1 209799102 209799102 G A rs763369856 LAMB3 Nonsynonymous SNV R623W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 150789 chr1 209806108 209806108 G A rs774677423 LAMB3 Synonymous SNV I214I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 150790 chr3 195595015 195595015 G A rs139268974 TNK2 Synonymous SNV T735T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.167 150791 chr3 64644328 64644328 C T rs373657194 ADAMTS9 Synonymous SNV T273T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.53 150792 chr3 196529917 196529917 A G rs183020057 PAK2 Synonymous SNV L106L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.565 150793 chr19 49379015 49379015 A G PPP1R15A Nonsynonymous SNV S604G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.34 150794 chr5 149001381 149001381 G A rs372019080 ARHGEF37 Nonsynonymous SNV R364H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.2 150795 chr5 179023615 179023615 C A rs148906843 RUFY1 Nonsynonymous SNV L414M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.917 150796 chr5 76115011 76115011 C A rs61749608 F2RL1 Synonymous SNV R2R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.14 150797 chr3 81627173 81627173 A G rs372821643 GBE1 Synonymous SNV T507T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.904 150798 chr3 38307364 38307364 G A rs747207820 SLC22A13 Nonsynonymous SNV V5I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 150799 chr19 50149826 50149826 G C SCAF1 Nonsynonymous SNV S102T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.86 150800 chr3 97806304 97806304 A G rs757490565 OR5AC2 Synonymous SNV L96L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.012 150801 chr19 50957588 50957588 G A rs201432361 MYBPC2 Stop gain W659X 0.002 0 0.007 0 2 0 0 2 0 0 0 0 39 150802 chr5 33683146 33683146 G A rs142161205 ADAMTS12 Nonsynonymous SNV L298F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 150803 chr5 150947789 150947789 C T rs762130877 FAT2 Nonsynonymous SNV G235E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.3 150804 chr5 89814929 89814929 A G rs376564116 LYSMD3 Nonsynonymous SNV Y210H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 150805 chr5 155526 155526 C A rs770549223 PLEKHG4B Nonsynonymous SNV L726M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 150806 chr5 80109509 80109509 A G rs190723980 MSH3 Nonsynonymous SNV Y921C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 27.5 150807 chr19 52002739 52002739 G A rs145810003 SIGLEC12 Nonsynonymous SNV P229L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.2 150808 chr3 40251483 40251483 G A rs142450900 MYRIP Nonsynonymous SNV G415R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.7 150809 chr1 228470726 228470726 G A OBSCN Synonymous SNV P2826P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.166 150810 chr3 45812898 45812898 A G rs147760034 SLC6A20 Nonsynonymous SNV F212S 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 28.1 150811 chr5 41008832 41008832 G A MROH2B Synonymous SNV L1162L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.762 150812 chr1 228504580 228504580 G A rs772047320 OBSCN Nonsynonymous SNV G4486S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 150813 chr1 228504652 228504652 G A rs756666190 OBSCN Nonsynonymous SNV D4510N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 150814 chr5 96518848 96518848 G T rs145595894 RIOK2 Nonsynonymous SNV D16E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 150815 chr3 42735207 42735207 C A rs141757802 HHATL Nonsynonymous SNV D384Y 0.004 0 0 5 5 0 0.013 0 0 0 0 0 16.17 150816 chr5 168137982 168137982 A G rs143815695 SLIT3 Synonymous SNV P879P 0 0.005 0 0 0 2 0 0 0 0 0 0 5.873 150817 chr1 228645387 228645387 C G rs145889493 H2AW Synonymous SNV V44V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 10.31 150818 chr5 169020505 169020505 G C rs138105894 SPDL1 Nonsynonymous SNV E162Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.5 150819 chr17 67031393 67031393 C T ABCA9 Nonsynonymous SNV M374I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.3 150820 chr1 232596646 232596646 C T rs778636218 SIPA1L2 Nonsynonymous SNV G1028S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 150821 chr5 175815923 175815923 T A HIGD2A Nonsynonymous SNV F35I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.65 150822 chr17 71084898 71084898 G A rs148439735 SLC39A11 Synonymous SNV L2L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 8.94 150823 chr6 109850233 109850233 C A rs138106785 AK9 Nonsynonymous SNV R1205I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.7 150824 chr3 48475244 48475244 C T rs769854937 CCDC51 Nonsynonymous SNV R117Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 150825 chr5 176836094 176836094 C G F12 Nonsynonymous SNV W23S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.94 150826 chr1 236189206 236189206 C T rs752704367 NID1 Synonymous SNV G658G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.92 150827 chr6 10755418 10755420 CTA - rs143450482 TMEM14B Y51del 0.001 0 0 0 1 0 0 0 0 0 0 0 150828 chr3 49568966 49568966 C T rs148759919 DAG1 Nonsynonymous SNV T341I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.9 150829 chr5 58726185 58726185 G C rs139967640 PDE4D Nonsynonymous SNV S20R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.17 150830 chr17 72518973 72518973 G T rs114955209 CD300LB Synonymous SNV L170L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.783 150831 chr6 116599739 116599739 G A TSPYL1 Nonsynonymous SNV R419C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 150832 chr6 109774961 109774961 G A rs577273855 MICAL1 Nonsynonymous SNV R116C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 150833 chr17 72926696 72926696 G A rs765364124 OTOP2 Synonymous SNV R322R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.834 150834 chr3 50327677 50327677 C T rs782569493 IFRD2 Synonymous SNV A168A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 150835 chr1 240072103 240072103 C T rs140545853 CHRM3 Nonsynonymous SNV T451M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 150836 chr6 117706949 117706949 G A rs779006477 ROS1 Nonsynonymous SNV T734M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.202 150837 chr1 2411241 2411241 G A rs757192702 PLCH2 Nonsynonymous SNV G87S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 11.45 150838 chr5 70840996 70840996 - TT BDP1 Frameshift insertion Q2232Lfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 150839 chr5 70840997 70840997 - T BDP1 Frameshift insertion Q2232Hfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 150840 chr3 52536216 52536216 C T rs139338725 STAB1 Synonymous SNV P153P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.177 150841 chr3 52546910 52546910 C T rs141381639 STAB1 Nonsynonymous SNV R1032C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 150842 chr1 2436422 2436422 C T rs765406097 PLCH2 Nonsynonymous SNV R1341C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 150843 chr3 49158984 49158984 C T rs139511264 LAMB2 Synonymous SNV K1714K 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.32 150844 chr6 129824342 129824342 T C rs199570699 LAMA2 Synonymous SNV L2818L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.417 150845 chr4 155156852 155156852 T C rs199574007 DCHS2 Synonymous SNV G2984G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.003 150846 chr1 247263811 247263812 AC - rs778738923 ZNF669 Stop gain C334* 0 0 0.003 0 0 0 0 1 0 0 0 0 150847 chr19 55710185 55710185 A G PTPRH Nonsynonymous SNV Y328H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 150848 chr17 74383138 74383138 G A rs767584550 SPHK1 Nonsynonymous SNV R209Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.433 150849 chr6 133097543 133097543 C A rs144106822 SLC18B1 Nonsynonymous SNV G274V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 33 150850 chr6 138611073 138611073 C G rs758691173 ARFGEF3 Nonsynonymous SNV S1005R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 150851 chr5 140049036 140049036 C T rs370437926 WDR55 Stop gain Q317X 0.003 0 0 0 3 0 0 0 0 0 0 0 38 150852 chr6 143093698 143093698 G A rs149027798 HIVEP2 Synonymous SNV S726S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 7.621 150853 chr5 140187402 140187402 A C rs372699466 PCDHA4 Nonsynonymous SNV L210F 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 150854 chr6 13306697 13306697 A G rs553366185 TBC1D7, TBC1D7-LOC100130357 Nonsynonymous SNV L216S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.7 150855 chr3 69273837 69273837 C T rs371721004 FRMD4B Nonsynonymous SNV E196K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 150856 chr5 41064591 41064598 TTCATCCT - rs533532784 MROH2B R146Gfs*8 0.002 0.005 0 0 2 2 0 0 0 0 0 0 150857 chr6 138724818 138724818 C A HEBP2 Synonymous SNV R40R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.009 150858 chr5 41939607 41939607 G A rs61748219 FBXO4 Synonymous SNV S321S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 12.65 150859 chr6 139048507 139048507 G T rs982092641 GVQW2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.034 150860 chr1 24987215 24987215 A G rs751376630 SRRM1 Nonsynonymous SNV K358E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 150861 chr1 25256118 25256118 G A rs757386888 RUNX3 Nonsynonymous SNV S81L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 150862 chr5 140768269 140768269 T G rs201901866 PCDHGB4 Nonsynonymous SNV V273G 0.005 0.003 0.007 5 6 1 0.013 2 0 0 0 0 3.487 150863 chr4 177100655 177100655 G T rs368204751 WDR17 Nonsynonymous SNV L1259F 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 24.4 150864 chr17 78196546 78196546 C A rs147696830 SLC26A11 Synonymous SNV S109S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.83 150865 chr3 9146412 9146412 G A rs774048794 SRGAP3 Synonymous SNV I125I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.74 150866 chr3 9594043 9594043 G A LHFPL4 Synonymous SNV L107L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 150867 chr6 152650875 152650875 C T rs754495941 SYNE1 Nonsynonymous SNV R4911H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 22.3 150868 chr5 94224634 94224634 - G MCTP1 Frameshift insertion L361Pfs*21 0 0.003 0 0 0 1 0 0 0 0 0 0 150869 chr5 94224638 94224638 A C MCTP1 Nonsynonymous SNV F360V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 150870 chr3 9792696 9792696 A G rs775024388 OGG1 Nonsynonymous SNV T69A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.412 150871 chr6 154412263 154412263 G A rs17174829 OPRM1 Nonsynonymous SNV D174N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 150872 chr3 69168162 69168162 C A LMOD3 Nonsynonymous SNV Q448H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.7 150873 chr6 151754345 151754345 T C RMND1 Nonsynonymous SNV M42V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 9.062 150874 chr5 55063726 55063726 G A rs757458025 DDX4 Nonsynonymous SNV E19K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24 150875 chr3 9962642 9962642 C T rs369736579 IL17RC Nonsynonymous SNV P204L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.1 150876 chr3 73453541 73453541 G A rs61756474 PDZRN3 Synonymous SNV N6N 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 10.17 150877 chr5 55412527 55412527 G C rs749372592 ANKRD55 Nonsynonymous SNV R294G 0 0.005 0 0 0 2 0 0 0 0 0 0 25.1 150878 chr1 29618420 29618420 C T rs141786387 PTPRU Synonymous SNV R786R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.83 150879 chr6 159183129 159183129 A G rs77838934 SYTL3 Nonsynonymous SNV H273R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.603 150880 chr17 80018623 80018623 C T rs769589629 DUS1L Nonsynonymous SNV G326S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.278 150881 chr4 1989650 1989650 G T NELFA Nonsynonymous SNV T210N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.3 150882 chr19 58879368 58879368 C T rs139712601 ZNF837 Synonymous SNV E444E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.98 150883 chr5 65349887 65349887 A G rs34521887 ERBIN Nonsynonymous SNV K914R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.59 150884 chr1 32672958 32672958 G A rs150393107 IQCC Nonsynonymous SNV A306T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 150885 chr19 58921310 58921310 T G rs151329342 ZNF584 Synonymous SNV A7A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.12 150886 chr4 10105567 10105567 A G rs200525851 WDR1 Nonsynonymous SNV V61A 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 Benign 22.7 150887 chr6 160489404 160489404 G A rs8191869 IGF2R Synonymous SNV P1413P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.26 150888 chr1 36020085 36020085 T G rs142411848 KIAA0319L Nonsynonymous SNV K3T 0 0.005 0.014 2 0 2 0.005 4 0 0 0 0 23.3 150889 chr6 161470571 161470571 G T MAP3K4 Nonsynonymous SNV G423C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 150890 chr6 165703466 165703466 T C rs773039565 C6orf118 Nonsynonymous SNV D404G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 150891 chr5 75581101 75581101 G A SV2C Nonsynonymous SNV S343N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 150892 chr4 113189487 113189487 T C rs371663733 AP1AR Synonymous SNV Y244Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 150893 chr6 167754523 167754523 A G rs763500736 TTLL2 Nonsynonymous SNV N379D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.034 150894 chr4 106164917 106164917 G A TET2 Nonsynonymous SNV R1262Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 150895 chr1 40705896 40705896 C G rs200835925 RLF Nonsynonymous SNV T1841S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.49 150896 chr20 3726568 3726568 A C rs977706858 HSPA12B Synonymous SNV R103R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.192 150897 chr18 12801997 12801997 G C rs148776205 PTPN2 Nonsynonymous SNV Q309E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 2.16 150898 chr6 130372538 130372538 G A L3MBTL3 Nonsynonymous SNV R120Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.58 150899 chr5 79733756 79733756 C G rs909757269 ZFYVE16 Nonsynonymous SNV Q418E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 150900 chr1 43308792 43308792 G A rs746412065 ERMAP Synonymous SNV K439K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.426 150901 chr5 81608619 81608619 C T ATP6AP1L Synonymous SNV S107S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.44 150902 chr6 139094936 139094936 C A rs34538642 CCDC28A Nonsynonymous SNV S42Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 150903 chr4 55139727 55139727 C G rs375047532 PDGFRA Nonsynonymous SNV T463S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.807 150904 chr6 139202285 139202285 T C rs73559413 ECT2L Synonymous SNV I619I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.489 150905 chr6 139203918 139203918 G A rs114337506 ECT2L Synonymous SNV V646V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.448 150906 chr5 93966272 93966272 A G SLF1 Synonymous SNV E85E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.852 150907 chr1 51048294 51048294 C T FAF1 Nonsynonymous SNV R370Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 150908 chr1 53122648 53122648 A G rs145105252 SHISAL2A Nonsynonymous SNV D170G 0.006 0.003 0.01 1 7 1 0.003 3 0 0 0 0 22.2 150909 chr6 311893 311893 G A rs759794031 DUSP22 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 150910 chr5 96127868 96127868 C T rs181668902 ERAP1 Nonsynonymous SNV D406N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.135 150911 chr5 178410211 178410211 C T rs754893934 GRM6 Nonsynonymous SNV M712I 0.004 0 0 0 5 0 0 0 0 0 0 0 14.01 150912 chr4 142147928 142147928 A G rs767633835 ZNF330 Synonymous SNV T13T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.807 150913 chr4 146824205 146824205 G A rs201229699 ZNF827 Nonsynonymous SNV T69I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 150914 chr4 13578592 13578592 G A rs775550481 BOD1L1 Nonsynonymous SNV R2970C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 34 150915 chr6 100061797 100061797 - GCCCCTCGAGCGCTGCGCGCTGCC PRDM13 L439_D440insERCALPPL 0 0.003 0 0 0 1 0 0 0 0 0 0 150916 chr4 6304133 6304133 G A rs71532874 WFS1 Nonsynonymous SNV V871M 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 Benign/Likely benign 21.5 150917 chr6 10415050 10415050 G T rs73414706 TFAP2A-AS1 0.003 0.008 0 0 4 3 0 0 0 0 0 0 9.669 150918 chr6 105581296 105581296 C T rs368998815 BVES Nonsynonymous SNV A53T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 150919 chr1 55224166 55224166 G T PARS2 Stop gain Y223X 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 150920 chr6 152457815 152457815 G A rs768373014 SYNE1 Stop gain R711X 0 0.003 0 0 0 1 0 0 0 0 0 0 59 150921 chr4 142155100 142155100 C T rs540088950 ZNF330 Nonsynonymous SNV T247I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 32 150922 chr6 348928 348928 G A rs200394961 DUSP22 Nonsynonymous SNV D199N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.745 150923 chr4 6925371 6925371 C T rs34768850 TBC1D14 Synonymous SNV H85H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.504 150924 chr6 35423815 35423815 C T rs781691272 FANCE Synonymous SNV S180S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 150925 chr6 35423836 35423836 A G FANCE Synonymous SNV E187E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 1.22 150926 chr6 38840492 38840492 G T rs61758417 DNAH8 Nonsynonymous SNV A2174S 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 Benign 28.6 150927 chr6 38841083 38841083 T C rs78611987 DNAH8 Synonymous SNV D2300D 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 Benign 0.322 150928 chr4 155461175 155461175 G A rs145418199 PLRG1 Nonsynonymous SNV H315Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 150929 chr4 155490820 155490820 A G rs6057 FGB Synonymous SNV S312S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.026 150930 chr6 39688546 39688546 C T rs149379197 KIF6 Synonymous SNV L36L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.49 150931 chr20 33575677 33575677 T A rs754511 MYH7B Nonsynonymous SNV F501Y 0.009 0 0.003 7 10 0 0.018 1 0 0 0 0 Benign 28.1 150932 chr5 35039443 35039443 A T rs138526600 AGXT2 Synonymous SNV V116V 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 2.118 150933 chr1 6639073 6639073 G A rs149418903 TAS1R1 Nonsynonymous SNV R398H 0.006 0.01 0.01 1 7 4 0.003 3 0 0 0 0 33 150934 chr4 164775198 164775198 G T rs201095700 MARCHF1 Nonsynonymous SNV A29D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.2 150935 chr1 6688680 6688680 G A rs141186206 THAP3 Nonsynonymous SNV A66T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.3 150936 chr6 12120652 12120652 C T rs2228216 HIVEP1 Synonymous SNV S208S 0.002 0.005 0.007 0 2 2 0 2 0 0 1 0 Benign 8.852 150937 chr4 166416765 166416765 C T rs142920534 CPE Nonsynonymous SNV A423V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.9 150938 chr6 41900347 41900347 G A rs149871094 BYSL Nonsynonymous SNV R406Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 150939 chr20 39993795 39993795 G A rs765385418 EMILIN3 Nonsynonymous SNV A57V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 150940 chr5 37108432 37108432 T C rs144698212 CPLANE1 Nonsynonymous SNV H3127R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 150941 chr20 40045395 40045395 C T rs753612503 CHD6 Nonsynonymous SNV V2107M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 150942 chr4 170322975 170322975 C T rs56077602 NEK1 Synonymous SNV L1040L 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 7.812 150943 chr1 76779573 76779573 A G rs748597964 ST6GALNAC3 Synonymous SNV P34P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.391 150944 chr6 42897358 42897360 TGC - rs755978068 CNPY3, CNPY3-GNMT L25del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 150945 chr6 13182896 13182896 G A rs372411363 PHACTR1 Synonymous SNV P122P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.31 150946 chr4 83350719 83350719 A G rs61729823 HNRNPDL Nonsynonymous SNV L42P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 25.9 150947 chr4 83350720 83350720 G A rs200018272 HNRNPDL Nonsynonymous SNV L42F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 24.9 150948 chr6 170871052 170871052 - CAG TBP Q75_A76insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 150949 chr20 46290589 46290589 C T rs551763867 SULF2 Nonsynonymous SNV V808I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 150950 chr6 17765079 17765079 G A rs114184296 KIF13A Synonymous SNV Y1512Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.559 150951 chr6 17804667 17804667 C T rs116064372 KIF13A Synonymous SNV A793A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.68 150952 chr4 85564210 85564210 A G rs139701286 CDS1 Nonsynonymous SNV S356G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.3 150953 chr6 18143955 18143955 C G rs1800462 TPMT Nonsynonymous SNV A80P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 drug response 29.5 150954 chr4 88534398 88534398 C T rs61731011 DSPP Nonsynonymous SNV R354C 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign/Likely benign 11.64 150955 chr6 47847140 47847140 C A PTCHD4 Nonsynonymous SNV M480I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 150956 chr4 187153306 187153306 C T rs779565094 KLKB1 Synonymous SNV N28N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.11 150957 chr6 26205100 26205100 C T rs201303017 H4C5 Synonymous SNV H76H 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 16.59 150958 chr4 93511397 93511397 G A rs559895523 GRID2 Synonymous SNV T68T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.75 150959 chr6 55142357 55142357 A G rs41403545 HCRTR2 Synonymous SNV A314A 0.003 0 0.01 4 4 0 0.01 3 0 0 0 0 9.998 150960 chr4 187201219 187201219 A T rs121965070 F11 Nonsynonymous SNV K270I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.14 150961 chr4 95173820 95173820 A G rs559885724 SMARCAD1 Nonsynonymous SNV R315G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 150962 chr6 65098631 65098631 T C rs201662562 EYS Synonymous SNV S2010S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.909 150963 chr4 20490557 20490557 A C rs755613349 SLIT2 Synonymous SNV R243R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 150964 chr20 58558015 58558015 T C rs6015609 CDH26 Nonsynonymous SNV I144T 0.003 0 0.007 0 3 0 0 2 0 0 1 0 17.5 150965 chr6 51889372 51889372 C T rs745387993 PKHD1 Nonsynonymous SNV G1746S 0.001 0 0 0 1 0 0 0 0 0 0 0 30 150966 chr20 58558073 58558073 C T rs6015610 CDH26 Synonymous SNV P163P 0.005 0 0.014 0 6 0 0 4 0 0 1 0 14.19 150967 chr1 95290119 95290119 G A rs148935541 SLC44A3 Nonsynonymous SNV G33D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 29 150968 chr6 74521963 74521963 C T rs144445787 CD109 Synonymous SNV S1169S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.81 150969 chr6 154411220 154411220 C T rs200869983 OPRM1 Stop gain R84X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 drug response 39 150970 chr6 154412972 154412972 G A rs765938464 OPRM1 Nonsynonymous SNV C298Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.791 150971 chr6 56765378 56765378 T C rs201106926 DST Synonymous SNV A86A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.5 150972 chr6 56918598 56918598 T G rs202156522 KIAA1586 Nonsynonymous SNV I407R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 150973 chr6 57058680 57058680 A G rs201820320 RAB23 Synonymous SNV A178A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 6.691 150974 chr20 11249035 11249035 T - rs71186132 LOC339593 0 0 0.119 0 0 0 0 35 0 0 0 0 150975 chr20 61526425 61526425 C T rs769614791 DIDO1 Synonymous SNV T769T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 150976 chr19 1432541 1432541 G A rs150043409 DAZAP1 Synonymous SNV P127P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 150977 chr19 1488077 1488077 T C rs112475014 PCSK4 Synonymous SNV Q134Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 150978 chr19 1491295 1491295 G C rs146326095 REEP6 Nonsynonymous SNV E9D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.617 150979 chr19 1495506 1495506 C G rs745452438 REEP6 Nonsynonymous SNV T83S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 150980 chr6 90371919 90371919 T G MDN1 Nonsynonymous SNV S4818R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.5 150981 chr6 35088722 35088722 G A rs954988108 TCP11 Nonsynonymous SNV R86W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 150982 chr20 1616124 1616124 G A rs995061041 SIRPG Synonymous SNV N290N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.271 150983 chr5 118503449 118503449 A G rs143024499 DMXL1 Nonsynonymous SNV N1763S 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Likely benign 0.002 150984 chr6 75858174 75858174 C T rs370549168 COL12A1 Nonsynonymous SNV R232Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 150985 chr6 99887715 99887715 C G USP45 Nonsynonymous SNV R639P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 150986 chr7 100075358 100075358 G A rs147999495 TSC22D4 Nonsynonymous SNV P102S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.083 150987 chr7 100151734 100151734 G A rs143496851 AGFG2 Nonsynonymous SNV A202T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.99 150988 chr7 100172892 100172892 G A rs751859405 LRCH4 Synonymous SNV G630G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.687 150989 chr7 100187325 100187325 G A rs201458558 FBXO24 Nonsynonymous SNV S21N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.381 150990 chr6 161970012 161970012 A G rs144340740 PRKN Synonymous SNV G170G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.01 150991 chr5 79734491 79734491 A G rs138928288 ZFYVE16 Nonsynonymous SNV K663E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.377 150992 chr6 38084504 38084504 C T rs267601007 ZFAND3 Nonsynonymous SNV S173L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 150993 chr5 130841189 130841189 G A rs374095655 RAPGEF6 Synonymous SNV N323N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.091 150994 chr6 168708652 168708652 C T rs183650899 DACT2 Synonymous SNV A425A 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 10.56 150995 chr5 133902066 133902066 G C rs142435802 JADE2 Synonymous SNV P410P 0.01 0.01 0.01 2 12 4 0.005 3 0 0 0 0 4.388 150996 chr5 134235296 134235296 G C TXNDC15 Nonsynonymous SNV S267T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 150997 chr4 52943042 52943042 C G rs140822209 SPATA18 Nonsynonymous SNV P61A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.33 150998 chr6 17831401 17831401 A T rs146614687 KIF13A Nonsynonymous SNV D444E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.5 150999 chr20 2464269 2464352 AAAGCCTCGCCCACACTCCCTGCAAACATAAGGCTTCTCATCCAAGTGTGTCCTCTGGTGTTTGATGAGATCTGAGTTCTGGCT - ZNF343 S329_F356del 0 0 0.003 0 0 0 0 1 0 0 0 0 151000 chr6 24447202 24447202 G C rs148782320 GPLD1 Nonsynonymous SNV L562V 0 0.008 0 0 0 3 0 0 0 0 0 0 23.2 151001 chr20 2816320 2816320 G A rs138736783 PCED1A Synonymous SNV L334L 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 10.13 151002 chr4 57248742 57248742 A C rs146114987 AASDH Synonymous SNV A84A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.263 151003 chr6 44201182 44201182 G A rs74750454 SLC29A1 Nonsynonymous SNV A456T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 27.9 151004 chr7 100486490 100486490 G A rs763434462 UFSP1 Stop gain Q135X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 151005 chr20 31626754 31626754 C T rs150580944 BPIFB6 Nonsynonymous SNV R296C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 151006 chr6 26156828 26156828 C T rs368208204 H1-4 Synonymous SNV G70G 0 0.008 0 0 0 3 0 0 0 0 0 0 10.62 151007 chr20 31876575 31876575 C T rs150828161 BPIFB1 Synonymous SNV N48N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.247 151008 chr5 140168138 140168138 C T rs782576028 PCDHA1 Nonsynonymous SNV R755W 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 19.78 151009 chr6 46563804 46563804 T G rs41273654 CYP39A1 Nonsynonymous SNV K157Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 26.8 151010 chr21 39528399 39528399 C A rs151113199 DSCR8 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.21 151011 chr5 140249936 140249936 C A PCDHA11 Nonsynonymous SNV N416K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.002 151012 chr20 35842190 35842190 C T rs138894622 RPN2 Synonymous SNV N181N 0 0 0.007 0 0 0 0 2 0 0 0 0 17.22 151013 chr5 140718897 140718897 A G rs144548345 PCDHGA2 Nonsynonymous SNV E120G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.9 151014 chr20 36634618 36634618 C T rs73905522 TTI1 Synonymous SNV S828S 0.002 0.005 0.014 2 2 2 0.005 4 0 1 0 0 16.35 151015 chr19 8468358 8468358 G A rs201470573 RAB11B Synonymous SNV P191P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.28 151016 chr4 76570827 76570827 T C G3BP2 Synonymous SNV A379A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.313 151017 chr7 100648115 100648115 G A MUC12 Nonsynonymous SNV M4757I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 151018 chr19 8982303 8982303 C T rs114920126 MUC16 Nonsynonymous SNV R13991Q 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 19.34 151019 chr20 43851114 43851114 C T rs765589388 SEMG2 Nonsynonymous SNV R281W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 151020 chr7 105254382 105254382 C T rs61749986 ATXN7L1 Nonsynonymous SNV S676N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.567 151021 chr20 44004020 44004020 T C rs150667328 TP53TG5 Nonsynonymous SNV T143A 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 0.001 151022 chr7 11452330 11452330 G C rs756149664 THSD7A Nonsynonymous SNV P1212R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 151023 chr6 35454281 35454281 G A rs376486327 TEAD3 Synonymous SNV C53C 0.006 0.018 0.003 1 7 7 0.003 1 0 0 0 0 6.631 151024 chr7 117432339 117432339 G A CTTNBP2 Nonsynonymous SNV S286F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 151025 chr6 125397899 125397899 C G RNF217 Nonsynonymous SNV R460G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 151026 chr21 46309312 46309312 G A rs5030672 ITGB2 Nonsynonymous SNV R586W 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 9.067 151027 chr20 49411608 49411608 C T BCAS4 Synonymous SNV P26P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.59 151028 chr4 8376877 8376877 C T rs921097118 ACOX3 Synonymous SNV V552V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.614 151029 chr19 9058380 9058380 G T MUC16 Nonsynonymous SNV T9689N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.013 151030 chr5 150029146 150029146 C T rs34838671 SYNPO Nonsynonymous SNV R437C 0 0.008 0.007 0 0 3 0 2 0 0 0 0 27.8 151031 chr6 39268243 39268243 G A rs201551905 KCNK17 Nonsynonymous SNV R249W 0 0.003 0 0 0 1 0 0 0 0 0 0 3.576 151032 chr7 100685946 100685946 A - rs765259344 MUC17 Stop gain I3751* 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 151033 chr6 137113081 137113081 G A MAP3K5 Nonsynonymous SNV S72F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.557 151034 chr7 100685948 100685948 A C rs199906340 MUC17 Nonsynonymous SNV I3751L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.002 151035 chr7 128587524 128587524 C T rs145868185 IRF5 Nonsynonymous SNV A225V 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 17.03 151036 chr5 1523899 1523899 C A rs916682617 LPCAT1 Nonsynonymous SNV A21S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.878 151037 chr4 89410358 89410358 G A rs761393280 HERC5 Synonymous SNV E668E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.844 151038 chr6 41754013 41754013 C G rs141478229 PRICKLE4 Nonsynonymous SNV R244G 0.003 0.013 0.003 2 4 5 0.005 1 0 0 0 0 24.9 151039 chr20 60294030 60294041 TGCCCTGCACCA - LOC100128310 0 0 0.003 0 0 0 0 1 0 0 0 0 151040 chr6 90387392 90387392 C A MDN1 Nonsynonymous SNV A4146S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.71 151041 chr7 137773482 137773482 G T rs143466151 AKR1D1 Nonsynonymous SNV V77L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 151042 chr6 43100175 43100175 G A rs61739218 PTK7 Synonymous SNV P334P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.35 151043 chr6 43591679 43591679 C T GTPBP2 Synonymous SNV T321T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 151044 chr20 61875401 61875401 G T rs573831787 NKAIN4 Nonsynonymous SNV S107R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.663 151045 chr7 123672581 123672581 C T TMEM229A Synonymous SNV L159L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 13.62 151046 chr5 169535492 169535492 G A rs55685928 FOXI1 Synonymous SNV A338A 0.01 0.005 0.014 3 12 2 0.008 4 0 0 0 0 Benign 5.751 151047 chr5 169535496 169535496 C G rs141924917 FOXI1 Nonsynonymous SNV P340A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.088 151048 chr5 112175364 112175364 C T rs730881249 APC Nonsynonymous SNV A1340V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 151049 chr5 170224476 170224476 G A rs148144716 GABRP Synonymous SNV T155T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.689 151050 chr6 46656191 46656191 C T rs145739303 TDRD6 Nonsynonymous SNV A109V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.41 151051 chr6 46684828 46684828 C T PLA2G7 Nonsynonymous SNV V39I 0 0.008 0 0 0 3 0 0 0 0 0 0 0.014 151052 chr7 100490976 100490976 G A ACHE Nonsynonymous SNV T293I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.871 151053 chr19 12187230 12187230 C T ZNF844 Nonsynonymous SNV P432L 0 0 0 2 0 0 0.005 0 0 0 0 0 3.975 151054 chr20 62196924 62196924 T C HELZ2 Nonsynonymous SNV K515R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 151055 chr6 46977232 46977232 C T rs544506995 ADGRF1 Nonsynonymous SNV V647M 0 0.008 0 0 0 3 0 0 0 0 0 0 15.4 151056 chr20 62250622 62250622 G A rs750106970 GMEB2 Synonymous SNV H43H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 151057 chr7 128489254 128489254 C T rs201069454 FLNC Synonymous SNV G1649G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign/Likely benign 13.97 151058 chr7 141889244 141889244 C G rs76437729 MGAM2 Nonsynonymous SNV P1429A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.002 151059 chr7 128597340 128597340 G A rs61756249 TNPO3 Nonsynonymous SNV A850V 0.008 0.003 0.003 2 9 1 0.005 1 2 0 0 0 Conflicting interpretations of pathogenicity 25.1 151060 chr5 118485815 118485815 G A rs147904610 DMXL1 Synonymous SNV T1431T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.388 151061 chr20 825692 825692 G A rs368013856 FAM110A Nonsynonymous SNV R82H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 151062 chr7 133041304 133041304 C T rs202172178 EXOC4 Synonymous SNV N328N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 151063 chr22 23401669 23401669 C T rs775850631 RSPH14 Nonsynonymous SNV A340T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 151064 chr6 159002001 159002001 A G rs767189868 TMEM181 Nonsynonymous SNV N185D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.65 151065 chr5 124080018 124080018 T C rs780980332 ZNF608 Nonsynonymous SNV Q222R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 151066 chr19 14938406 14938406 G A rs771655689 OR7A5 Synonymous SNV Y216Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.073 151067 chr6 52319050 52319050 G A rs1570624 EFHC1 Nonsynonymous SNV R294H 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Benign 32 151068 chr7 148876317 148876317 C T rs75428468 ZNF398 Synonymous SNV S451S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.8 151069 chr7 148950922 148950922 T - rs774423927 ZNF212 C302Vfs*5 0.001 0.005 0 0 1 2 0 0 0 0 0 0 151070 chr6 54805295 54805295 C T rs368876321 FAM83B Nonsynonymous SNV P509L 0 0.008 0 0 0 3 0 0 0 0 0 0 1.334 151071 chr5 133640240 133640240 T A rs376532976 CDKL3 Nonsynonymous SNV I198L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.65 151072 chr21 37442263 37442263 C G rs768497282 LOC100133286 0 0 0.01 0 0 0 0 3 0 0 1 0 10.23 151073 chr21 37442265 37442265 - TAACCCA rs750447177 LOC100133286 0 0 0.01 0 0 0 0 3 0 0 1 0 151074 chr6 73934037 73934037 C A rs190736560 KHDC1L Synonymous SNV L49L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 151075 chr7 155530776 155530776 G A rs367707731 RBM33 Synonymous SNV P472P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.277 151076 chr21 41427760 41427760 T G DSCAM Nonsynonymous SNV T1643P 0 0 0.003 0 0 0 0 1 0 0 0 0 23 151077 chr5 139947318 139947318 C G rs767288056 SLC35A4 Synonymous SNV G188G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.709 151078 chr7 149477219 149477219 G A rs568165115 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 151079 chr5 38954935 38954935 T C rs61748211 RICTOR Nonsynonymous SNV I880V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.02 151080 chr21 43523854 43523854 G C rs12482506 UMODL1-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 4.59 151081 chr7 150164189 150164189 C G rs143212982 GIMAP8 Nonsynonymous SNV R135G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 151082 chr6 8073723 8073724 TG - rs558357443 EEF1E1 T135Rfs*13 0.002 0.005 0 0 2 2 0 0 0 0 0 0 151083 chr7 150554261 150554261 C G rs116444806 AOC1 Nonsynonymous SNV Q235E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.32 151084 chr21 45671143 45671143 A G LOC105372833 0 0 0.003 0 0 0 0 1 0 0 0 0 0.993 151085 chr5 480024 480024 T C rs144147429 SLC9A3 Nonsynonymous SNV Q516R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.555 151086 chr7 105752930 105752930 C A SYPL1 Nonsynonymous SNV G16C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 151087 chr7 113519107 113519110 TGTT - rs747635122 PPP1R3A T680Ifs*15 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 151088 chr7 2752456 2752456 C T rs145687592 AMZ1 Stop gain R481X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 36 151089 chr6 97711214 97711214 C T rs61740678 MMS22L Synonymous SNV S30S 0.007 0.01 0.01 0 8 4 0 3 0 0 0 0 17.7 151090 chr5 55407268 55407268 C T rs143094717 ANKRD55 Nonsynonymous SNV S436N 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 29.8 151091 chr5 57755526 57755526 C A rs369427635 PLK2 Synonymous SNV V87V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.66 151092 chr7 100172154 100172154 G T ZASP Nonsynonymous SNV A9E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 2.23 151093 chr7 195605 195605 C T rs375009760 FAM20C Synonymous SNV A219A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 151094 chr5 147889153 147889153 G A rs56031837 HTR4 Synonymous SNV F314F 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 0.809 151095 chr5 150028651 150028651 C T rs146345840 SYNPO Nonsynonymous SNV P272S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 0.004 151096 chr7 4089011 4089011 G A rs139642198 SDK1 Synonymous SNV T878T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.39 151097 chr7 2473279 2473279 C T CHST12 Synonymous SNV D335D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.207 151098 chr7 4169611 4169611 G A rs537498277 SDK1 Synonymous SNV S1337S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.546 151099 chr22 46653532 46653532 C T rs149976030 PKDREJ Synonymous SNV L1896L 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 6.494 151100 chr7 42004815 42004815 T A rs764591572 GLI3 Nonsynonymous SNV M1286L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 151101 chr22 46654628 46654628 G A rs143126011 PKDREJ Nonsynonymous SNV P1531L 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 5.709 151102 chr7 2566485 2566485 G A rs764991226 LFNG Nonsynonymous SNV G335S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Uncertain significance 26.9 151103 chr7 133881804 133881804 G A rs762700582 LRGUK Nonsynonymous SNV V498I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.09 151104 chr22 46658204 46658204 A G rs113301350 PKDREJ Nonsynonymous SNV V339A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 14.44 151105 chr22 46681173 46681173 C G rs34834410 TTC38 Synonymous SNV T277T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 4.121 151106 chr22 46746188 46746188 C T rs35338668 TRMU Nonsynonymous SNV A46V 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 Benign 21.3 151107 chr22 46749755 46749755 C T rs61737827 TRMU Synonymous SNV D174D 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 Benign 10.69 151108 chr22 46751394 46751394 C T rs9627420 TRMU Synonymous SNV R195R 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Benign/Likely benign 15.34 151109 chr22 46760520 46760520 C T rs371493557 CELSR1 Nonsynonymous SNV V2890M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 151110 chr7 135323351 135323351 G T rs11550519 NUP205 Nonsynonymous SNV S1413I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 23.9 151111 chr7 135421930 135421930 C T rs138173146 FAM180A Nonsynonymous SNV A32T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 151112 chr7 44282853 44282853 T C rs149091142 CAMK2B Synonymous SNV A199A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.098 151113 chr7 138440495 138440495 G C rs61747681 ATP6V0A4 Nonsynonymous SNV P252R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.41 151114 chr22 50279171 50279171 C T rs746830307 ZBED4 Nonsynonymous SNV R621W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 151115 chr7 45014827 45014827 C T rs779229335 MYO1G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 151116 chr5 76028328 76028328 C A rs752747780 F2R Nonsynonymous SNV S93Y 0.004 0.01 0 0 5 4 0 0 0 0 0 0 18.74 151117 chr22 25573488 25573488 G A rs182681767 KIAA1671 Synonymous SNV T1691T 0 0.005 0.007 0 0 2 0 2 0 0 0 0 5.433 151118 chr7 140395749 140395749 A C NDUFB2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.338 151119 chr7 47925324 47925324 C T rs141356808 PKD1L1 Synonymous SNV E1055E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 151120 chr5 79034361 79034361 A G rs888616125 CMYA5 Nonsynonymous SNV Q3258R 0.005 0.013 0 0 6 5 0 0 0 0 0 0 19.73 151121 chr7 142569640 142569640 T G TRPV6 Nonsynonymous SNV K706N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.47 151122 chr7 38457454 38457454 G A rs201059599 AMPH Nonsynonymous SNV R457W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.6 151123 chr22 51117811 51117811 C T rs200400333 SHANK3 Synonymous SNV N355N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 151124 chr5 170725811 170725811 G A rs148315082 RANBP17 Synonymous SNV A1072A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.246 151125 chr22 32352586 32352586 A T YWHAH Nonsynonymous SNV Y183F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.86 151126 chr7 5427810 5427810 T C rs756643420 TNRC18 Nonsynonymous SNV K549E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 151127 chr5 95751822 95751822 G A rs111380006 PCSK1 Synonymous SNV H208H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 11.22 151128 chr5 176004673 176004673 C T rs571413468 CDHR2 Synonymous SNV S462S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.95 151129 chr5 176316551 176316551 C T rs563509390 HK3 Nonsynonymous SNV A249T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.8 151130 chr5 96139350 96139350 T C rs766211038 ERAP1 Nonsynonymous SNV I94V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.599 151131 chr7 47853112 47853112 T G rs200136991 C7orf69 0.001 0 0 0 1 0 0 0 0 0 0 0 2.478 151132 chr7 101267497 101267497 G A rs755066811 MYL10 Synonymous SNV N42N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.676 151133 chr7 149485491 149485491 C T rs200375912 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 6.868 151134 chr7 102574453 102574453 T G rs139516562 LRRC17 Nonsynonymous SNV N31K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.027 151135 chr5 96249139 96249139 A C ERAP2 Nonsynonymous SNV N834H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 151136 chrX 15364269 15364269 G A rs370269731 VEGFD Stop gain R351X 0.003 0.003 0 0 3 1 0 0 1 0 0 0 35 151137 chr6 105564684 105564684 T G rs61995860 BVES Synonymous SNV T236T 0.007 0.005 0.007 0 8 2 0 2 0 0 0 0 Benign 8.775 151138 chrX 18972406 18972406 T C PHKA2 Nonsynonymous SNV D68G 0.003 0 0 0 3 0 0 0 1 0 0 0 25.4 151139 chrX 19387273 19387273 C T rs377402616 MAP3K15 Synonymous SNV A1155A 0.002 0 0 0 2 0 0 0 1 0 0 0 9.71 151140 chrX 19983405 19983405 G A rs41309605 BCLAF3 Nonsynonymous SNV P344L 0.008 0.003 0.01 0 9 1 0 3 3 0 0 0 4.218 151141 chr22 38870563 38870563 G A rs779364847 KDELR3 Nonsynonymous SNV V43I 0 0 0.003 0 0 0 0 1 0 0 0 0 30 151142 chr7 6547833 6547833 C T rs757615737 GRID2IP Nonsynonymous SNV G776D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.182 151143 chr7 6548604 6548604 C G rs755593947 GRID2IP Nonsynonymous SNV E704D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 151144 chr6 110533410 110533410 A G rs147439944 CDC40 Nonsynonymous SNV T268A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.373 151145 chr22 39832352 39832352 G A rs867481768 LOC100506472 0 0 0.003 0 0 0 0 1 0 0 0 0 0.112 151146 chr22 40417943 40417943 G A rs41276305 FAM83F Nonsynonymous SNV E477K 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 17.44 151147 chr6 7226757 7226757 G A rs759101444 RREB1 Synonymous SNV A255A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 13.99 151148 chr7 151874361 151874361 T C KMT2C Nonsynonymous SNV D2726G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 151149 chr7 1543545 1543545 G A rs566640123 INTS1 Nonsynonymous SNV P18S 0 0.005 0 0 0 2 0 0 0 0 0 0 12.52 151150 chr7 154379724 154379724 C T rs760244585 DPP6 Nonsynonymous SNV S331L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.009 151151 chr7 57510009 57510009 G T rs185976377 ZNF716 Synonymous SNV P5P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.697 151152 chr7 123269194 123269194 C T rs189012920 ASB15 Synonymous SNV N382N 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 8.334 151153 chr5 306765 306765 C T rs751042838 PDCD6 Nonsynonymous SNV T86M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.5 151154 chr7 64451791 64451791 C G rs146735658 ERV3-1 Nonsynonymous SNV Q538H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.5 151155 chr22 43735185 43735185 T C rs41307223 SCUBE1 Nonsynonymous SNV I49V 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 13.81 151156 chr6 119670087 119670087 G T MAN1A1 Nonsynonymous SNV F48L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.46 151157 chr7 65445385 65445385 G A rs140016611 GUSB Synonymous SNV T74T 0.003 0.01 0 0 3 4 0 0 0 0 0 0 Benign/Likely benign 9.854 151158 chr22 44322959 44322959 C T PNPLA3 Nonsynonymous SNV S111F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 151159 chr5 35065448 35065448 C T rs148096787 PRLR Nonsynonymous SNV G437R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 151160 chr6 80717708 80717708 - CAG TTK S108delinsTG 0.001 0 0 0 1 0 0 0 0 0 0 0 151161 chr6 80717710 80717712 TTT - TTK F109del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 151162 chr7 73932615 73932615 C A GTF2IRD1 Nonsynonymous SNV L222M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.9 151163 chr7 75684303 75684303 A G rs769743658 MDH2 Synonymous SNV K74K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.134 151164 chr7 76024633 76024633 T C rs138570741 SSC4D Nonsynonymous SNV T295A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.715 151165 chr7 133884081 133884081 G A rs34890031 LRGUK Nonsynonymous SNV R552H 0.005 0.005 0 1 6 2 0.003 0 1 0 0 0 33 151166 chr7 91674356 91674356 A G AKAP9 Nonsynonymous SNV K1733E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 151167 chr22 50280472 50280472 G A rs41280547 ZBED4 Synonymous SNV P1054P 0.001 0.005 0.014 1 1 2 0.003 4 0 0 0 0 0.41 151168 chr7 92098525 92098525 C T rs773592328 ERVW-1 Nonsynonymous SNV A391T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 151169 chr7 82581786 82581786 G A rs189352647 PCLO Nonsynonymous SNV T2828I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.045 151170 chr19 45572498 45572498 C T rs149514096 CLASRP Synonymous SNV I560I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.97 151171 chr7 92195341 92195341 C T rs957467424 FAM133B Nonsynonymous SNV R205Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 151172 chr7 94037654 94037654 C T COL1A2 Nonsynonymous SNV R234C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 151173 chr6 143832748 143832748 C A rs530866043 FUCA2 Nonsynonymous SNV R8S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.5 151174 chr7 139655378 139655378 C T rs747425088 TBXAS1 Synonymous SNV C159C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.37 151175 chr7 91603115 91603115 C T rs35669569 AKAP9 Nonsynonymous SNV H47Y 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Benign/Likely benign 0.009 151176 chrX 153001668 153001668 C T ABCD1 Nonsynonymous SNV A395V 0.002 0 0 2 2 0 0.005 0 1 0 0 1 23.1 151177 chrX 153195643 153195643 T G NAA10 Synonymous SNV R154R 0.002 0 0 2 2 0 0.005 0 1 0 0 1 9.83 151178 chr7 99711800 99711808 GTTGCTAAG - rs769438446 TAF6 L46_N48del 0.001 0 0 0 1 0 0 0 0 0 0 0 151179 chr19 47228631 47228631 G A rs556592499 STRN4 Nonsynonymous SNV A484V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.4 151180 chr7 30054489 30054491 CTT - rs542254849 FKBP14 K166del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 151181 chr19 47589655 47589655 C G rs201516068 ZC3H4 Nonsynonymous SNV E286Q 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 24.3 151182 chr6 151140883 151140883 G A PLEKHG1 Nonsynonymous SNV A422T 0.001 0.013 0 6 1 5 0.015 0 0 1 0 0 0.006 151183 chr7 99084467 99084467 C T rs370724585 ZNF789 Nonsynonymous SNV R195C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 151184 chr6 152265352 152265352 C T rs142712646 ESR1 Nonsynonymous SNV R269C 0.001 0.008 0 0 1 3 0 0 0 0 0 0 27 151185 chr8 103372389 103372389 C T UBR5 Nonsynonymous SNV G99E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 151186 chr2 103095680 103095680 C T SLC9A4 Synonymous SNV A213A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 151187 chr2 103378690 103378690 T C TMEM182 Nonsynonymous SNV I5T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 151188 chr19 48653444 48653444 C T rs770498504 LIG1 Nonsynonymous SNV V132I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.474 151189 chr2 108863728 108863728 C T rs114486672 SULT1C3 Synonymous SNV V26V 0.008 0.01 0.003 1 9 4 0.003 1 0 0 0 0 7.5 151190 chr7 148978921 148978921 G T rs758939504 ZNF783 Synonymous SNV R376R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.036 151191 chr19 49206480 49206480 C T rs760690963 FUT2 Synonymous SNV N89N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.226 151192 chr7 40723699 40723699 T C SUGCT Synonymous SNV H385H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.046 151193 chr6 155458577 155458577 C T rs74696233 TIAM2 Synonymous SNV S487S 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 17.3 151194 chr6 155485629 155485629 T C rs150823498 TIAM2 Synonymous SNV G703G 0.001 0.008 0 7 1 3 0.018 0 0 0 0 0 0.005 151195 chr6 155577913 155577913 C T rs41284228 TIAM2 Synonymous SNV I513I 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 17.08 151196 chr6 155597134 155597134 G A rs34434986 CLDN20 Nonsynonymous SNV G94E 0.006 0.003 0.007 4 7 1 0.01 2 0 0 0 0 28.4 151197 chr8 103297753 103297753 T C UBR5 Synonymous SNV A1824A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.587 151198 chr7 150439948 150439948 G A rs751272459 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV D241N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.6 151199 chr2 113953726 113953726 A T rs760973248 PSD4 Nonsynonymous SNV D743V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 151200 chr2 118860891 118860891 C T rs764160174 INSIG2 Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.07 151201 chr7 150737937 150737937 G A rs757227667 ABCB8 Nonsynonymous SNV E383K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 151202 chr7 150753853 150753853 C T rs759883551 CDK5 Synonymous SNV K75K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.92 151203 chr8 119936999 119936999 T C TNFRSF11B Nonsynonymous SNV I274V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.955 151204 chr5 75008762 75008762 T C POC5 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 151205 chr7 150883498 150883498 G A rs104886473 ASB10 Nonsynonymous SNV R189W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 not provided 23.5 151206 chr8 120431498 120431498 T C rs748799661 CCN3 Synonymous SNV N230N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.997 151207 chr2 120857849 120857849 A G rs765044439 EPB41L5 Nonsynonymous SNV N403S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.47 151208 chr2 120925492 120925492 A G rs150011085 EPB41L5 Nonsynonymous SNV M681V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.001 151209 chr19 50216784 50216784 G C rs775816343 CPT1C Nonsynonymous SNV E778D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.47 151210 chr19 50321602 50321602 G C rs780512266 MED25 Nonsynonymous SNV V2L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.6 151211 chr19 50333853 50333853 G T MED25 Nonsynonymous SNV R302L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 151212 chr2 125660603 125660603 C T rs980773569 CNTNAP5 Nonsynonymous SNV T1194I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.146 151213 chr8 123963996 123963996 C T rs4871331 ZHX2 Synonymous SNV Y82Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.628 151214 chr5 7851094 7851094 C G rs768292052 C5orf49 Nonsynonymous SNV R14P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 151215 chr2 128865617 128865617 C G UGGT1 Stop gain S128X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 151216 chr19 51227826 51227826 G A rs752036565 CLEC11A Nonsynonymous SNV G165D 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 7.959 151217 chr7 158824711 158824711 T C VIPR2 Nonsynonymous SNV H324R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26 151218 chr7 5265502 5265502 C T rs138018731 WIPI2 Synonymous SNV L204L 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 15.65 151219 chr7 54617760 54617760 C T rs138245427 VSTM2A Synonymous SNV S177S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.171 151220 chr8 126194425 126194425 T - rs1057519088 NSMCE2 S116Lfs*18 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 151221 chr6 24416691 24416691 A G rs767450213 MRS2 Synonymous SNV E212E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.12 151222 chr7 105206096 105206096 G A RINT1 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 151223 chr2 1459895 1459895 C T rs151154074 TPO Synonymous SNV V220V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.811 151224 chr2 152138460 152138460 A G NMI 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 151225 chr10 124392721 124392721 G A rs553177521 DMBT1 Nonsynonymous SNV G1381R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 32 151226 chr5 93966366 93966366 C T rs971867529 SLF1 Nonsynonymous SNV R117C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 151227 chr2 152350350 152350350 G T NEB Nonsynonymous SNV T6348N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 151228 chr10 125514202 125514202 C A rs764423566 CPXM2 Nonsynonymous SNV G665V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 31 151229 chr6 26021017 26021017 C T H3C1 Synonymous SNV Y100Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.746 151230 chr8 141745433 141745433 A G rs149694113 PTK2 Synonymous SNV P613P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.817 151231 chr7 24839889 24839889 G A rs6966239 OSBPL3 Synonymous SNV D792D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.036 151232 chr19 52394513 52394513 G A rs144823530 ZNF649 Synonymous SNV C292C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.728 151233 chr6 107827505 107827505 A C rs978399192 SOBP Nonsynonymous SNV S99R 0.003 0 0 0 4 0 0 0 0 0 0 0 17.14 151234 chr19 52660639 52660639 C G rs145570001 ZNF836 Nonsynonymous SNV E99D 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 0.103 151235 chr19 52660644 52660644 G C rs191015765 ZNF836 Nonsynonymous SNV L98V 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 0.001 151236 chr19 52660645 52660645 G T rs182900557 ZNF836 Nonsynonymous SNV D97E 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 0.026 151237 chr8 142221772 142221772 G C SLC45A4 Nonsynonymous SNV Q776E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.777 151238 chr2 163003985 163003985 A G rs532985101 GCG Synonymous SNV P44P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.137 151239 chr7 127013565 127013565 C T rs562133327 ZNF800 Nonsynonymous SNV V609I 0.007 0.003 0 1 8 1 0.003 0 2 0 0 0 26.1 151240 chr7 127964667 127964667 C T rs144509151 RBM28 Synonymous SNV T287T 0.007 0.003 0 2 8 1 0.005 0 2 0 0 0 Likely benign 17.76 151241 chr8 144658830 144658830 G A rs767181213 NAPRT Synonymous SNV T61T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 151242 chr7 86539302 86539302 G C rs34412146 KIAA1324L Nonsynonymous SNV L489V 0 0.003 0.01 2 0 1 0.005 3 0 0 0 0 0.971 151243 chr2 170783243 170783243 C T rs543767039 UBR3 Synonymous SNV S731S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 151244 chr8 144990480 144990480 G A rs190789703 PLEC Synonymous SNV R4489R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.885 151245 chr10 13653615 13653615 G A rs62640925 PRPF18 Nonsynonymous SNV A171T 0.009 0.003 0.007 8 10 1 0.021 2 0 0 0 0 12.87 151246 chr8 144997867 144997867 T G PLEC Nonsynonymous SNV D2063A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.266 151247 chr7 43982349 43982349 T G rs144036491 POLR2J4 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 5.878 151248 chr2 171649424 171649424 C G ERICH2 Nonsynonymous SNV Q90E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 151249 chr10 16528528 16528528 C T rs76119360 PTER Nonsynonymous SNV R55W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 34 151250 chr2 172195875 172195875 G A rs61731489 METTL8 Nonsynonymous SNV S97L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 17.44 151251 chr2 172749759 172749759 T C rs780554394 SLC25A12 Nonsynonymous SNV T8A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 151252 chr8 145537804 145537804 C T rs372568305 HSF1 Synonymous SNV H467H 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.63 151253 chr8 145577932 145577934 TGA - rs778440349 TMEM249 I70del 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 151254 chr6 129723576 129723576 G T rs374587087 LAMA2 Synonymous SNV V1890V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.12 151255 chr2 178977479 178977479 C G rs776159390 RBM45 Nonsynonymous SNV A69G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.3 151256 chr7 47474911 47474911 T C rs775011054 TNS3 Nonsynonymous SNV N98S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 151257 chr8 145741960 145741960 C T rs34159914 RECQL4 Synonymous SNV Q181Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign/Likely benign 0.848 151258 chr10 24813471 24813471 G A KIAA1217 Synonymous SNV V575V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.38 151259 chr6 42072307 42072354 GGCCTCCGGGGGGCGCGCGACCCGCCGAGTTCACGCGCCGCATCTCGG - rs764883179 C6orf132 P1099_G1114del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 151260 chr6 42074382 42074382 G A rs775650809 C6orf132 Nonsynonymous SNV A423V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.85 151261 chr6 42176620 42176620 T C rs9471806 MRPS10 Synonymous SNV E166E 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 6.328 151262 chr6 42204105 42204105 - TCC rs111816381 TRERF1 E987_D988insE 0.005 0.003 0 0 6 1 0 0 0 0 0 0 151263 chr8 16974108 16974108 G A rs573999467 MICU3 Nonsynonymous SNV R502Q 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 28.4 151264 chr10 28824608 28824608 G C rs977706188 WAC Nonsynonymous SNV E66Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.27 151265 chr6 133015228 133015228 G A rs376241655 VNN1 Synonymous SNV C145C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.736 151266 chr8 103852050 103852050 G A rs149466601 AZIN1 Nonsynonymous SNV T35I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.44 151267 chr8 18729823 18729823 T C rs201806032 PSD3 Nonsynonymous SNV N151S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 151268 chr6 13711281 13711281 G C rs144473823 RANBP9 Nonsynonymous SNV R153G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.3 151269 chr8 18080178 18080178 T C rs773830510 NAT1 Nonsynonymous SNV Y208H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 151270 chr19 56089961 56089961 G A rs377665865 ZNF579 Nonsynonymous SNV P349S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.6 151271 chr10 3190393 3190393 G A rs148781123 PITRM1 Synonymous SNV P654P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.27 151272 chr7 6075545 6075545 G A rs956123693 ANKRD61 Nonsynonymous SNV R262H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.12 151273 chr19 56181046 56181046 C T rs143591860 U2AF2 Synonymous SNV P423P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.5 151274 chr6 150387038 150387038 T C rs371894085 ULBP3 Nonsynonymous SNV S117G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 10.27 151275 chr6 151789693 151789693 G A rs138661644 ARMT1 Synonymous SNV E139E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.673 151276 chr2 197657761 197657761 - TCC rs781748499 GTF3C3 E111_T112insE 0 0 0.003 0 0 0 0 1 0 0 0 0 151277 chr10 45430180 45430180 G C rs936696707 TMEM72 Synonymous SNV V24V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 1.116 151278 chr19 56895475 56895475 T C rs140809901 ZNF582 Synonymous SNV Q468Q 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 0.074 151279 chr8 25234917 25234917 A G DOCK5 Nonsynonymous SNV I1305V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 151280 chr2 203836450 203836450 G A rs201541233 CARF Synonymous SNV R96R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.048 151281 chr19 57724239 57724239 A G rs745817610 ZNF264 Nonsynonymous SNV K592E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.885 151282 chr10 49654466 49654466 C - ARHGAP22 V599Lfs*91 0.003 0 0 3 3 0 0.008 0 0 0 0 0 151283 chr8 28827689 28827689 C T rs145379672 HMBOX1 Synonymous SNV D51D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.737 151284 chr8 29927388 29927388 G C rs752340243 SARAF Nonsynonymous SNV S157C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 151285 chr6 70990717 70990717 G A rs192047082 COL9A1 Nonsynonymous SNV P58L 0.003 0.003 0.003 5 3 1 0.013 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.69 151286 chr8 133899245 133899245 C G rs763864684 TG Nonsynonymous SNV T543S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 0.002 151287 chr8 135521880 135521880 C T rs16905160 ZFAT Synonymous SNV T1096T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.18 151288 chr8 31498030 31498030 A G rs749713591 NRG1 Nonsynonymous SNV K177R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 151289 chr8 139674279 139674279 G T rs149487505 COL22A1 Synonymous SNV G1078G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.391 151290 chr8 39007387 39007387 G A ADAM32 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 151291 chr7 90741911 90741911 C G rs375635324 CDK14 Synonymous SNV S274S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.37 151292 chr10 5772920 5772920 A T rs75514089 TASOR2 Nonsynonymous SNV T320S 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 19.39 151293 chr7 91779853 91779853 C G rs138031057 LRRD1 Nonsynonymous SNV R758T 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 25 151294 chr10 5789418 5789418 T G rs76183460 TASOR2 Nonsynonymous SNV V1264G 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 13.29 151295 chr10 5790729 5790729 C T rs11593253 TASOR2 Nonsynonymous SNV T1701I 0.005 0.013 0.007 2 6 5 0.005 2 0 0 0 0 16.36 151296 chr6 7727665 7727665 G A rs745822370 BMP6 Synonymous SNV Q159Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.223 151297 chr10 5804509 5804509 C T rs75004071 TASOR2 Nonsynonymous SNV P2316S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.709 151298 chr10 6008154 6008154 C T rs3181147 IL15RA Synonymous SNV K43K 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 9.836 151299 chr7 25175717 25175717 T C C7orf31 Synonymous SNV S549S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.788 151300 chr10 61028416 61028416 C T rs370898940 FAM13C Nonsynonymous SNV G280D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 151301 chr7 93055724 93055724 C T rs147503225 CALCR Nonsynonymous SNV E457K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.68 151302 chr6 88119645 88119645 - A CFAP206 Frameshift insertion T31Nfs*16 0.001 0.003 0 0 1 1 0 0 0 0 0 0 151303 chr8 53084575 53084575 A G rs75439564 ST18 Synonymous SNV D282D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.005 151304 chr2 219553466 219553466 T C rs34128793 STK36 Nonsynonymous SNV F476S 0 0 0.007 0 0 0 0 2 0 0 0 0 24 151305 chr6 168709593 168709593 C T rs778812998 DACT2 Nonsynonymous SNV V112M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 151306 chr7 27194620 27194620 C G rs200468253 HOXA7 Nonsynonymous SNV E201Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.958 151307 chr8 59514631 59514631 G C rs748264704 NSMAF Nonsynonymous SNV L402V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 151308 chr8 65493879 65493879 G A rs753620336 BHLHE22 Nonsynonymous SNV A178T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 151309 chr2 220088353 220088353 G A rs750542062 ATG9A Nonsynonymous SNV T518I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 151310 chr6 17629154 17629154 C G rs766620970 NUP153 Synonymous SNV L1050L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 5.852 151311 chr8 70585202 70585202 C A rs772735964 SLCO5A1 Nonsynonymous SNV A762S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.622 151312 chr6 18197821 18197821 T C rs138145635 KDM1B Nonsynonymous SNV S252P 0.006 0 0.01 3 7 0 0.008 3 0 0 0 0 22.1 151313 chr7 31690816 31690816 G A rs780609042 ITPRID1 Nonsynonymous SNV E882K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 151314 chr2 220432227 220432227 C T rs777754560 OBSL1 Synonymous SNV L535L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 151315 chr8 144947072 144947072 C T rs566009223 EPPK1 Nonsynonymous SNV R117H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 151316 chr7 33055380 33055380 T A NT5C3A Nonsynonymous SNV N233Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 151317 chr8 73142574 73142574 G T LOC392232 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.38 151318 chr8 73849332 73849332 G A rs148143740 KCNB2 Nonsynonymous SNV C581Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.68 151319 chr8 144996320 144996320 G A rs201569045 PLEC Nonsynonymous SNV R2543W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.1 151320 chr8 85441712 85441712 C T rs534853015 RALYL Synonymous SNV S65S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.48 151321 chr10 73052263 73052263 G A rs376724658 UNC5B Nonsynonymous SNV G564D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 151322 chr6 26385289 26385289 G A rs887071953 BTN2A2 Synonymous SNV V47V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.951 151323 chr20 10620179 10620179 G A JAG1 Synonymous SNV A1208A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.899 151324 chr8 87111214 87111214 G A rs755844717 ATP6V0D2 Nonsynonymous SNV E3K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 151325 chr8 8750441 8750441 G C MFHAS1 Nonsynonymous SNV A43G 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 7.918 151326 chr2 231948316 231948316 T C rs778435654 PSMD1 Synonymous SNV L521L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.394 151327 chr6 27792163 27792163 G A rs36108923 H4C11 Synonymous SNV V87V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Likely benign 9.45 151328 chr2 234591005 234591005 G C rs72551332 UGT1A7 Nonsynonymous SNV C141S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.002 151329 chr10 7683991 7683991 G A rs12241347 ITIH5 Synonymous SNV F66F 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 6.692 151330 chr2 234601768 234601768 C T UGT1A6 Nonsynonymous SNV L40F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 151331 chr9 100897191 100897191 G A rs142497032 CORO2A Nonsynonymous SNV T122M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.4 151332 chr6 36294825 36294825 T C BNIP5 Synonymous SNV G258G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.602 151333 chr9 106880552 106880552 A G SMC2 Nonsynonymous SNV D631G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 151334 chr10 86273280 86273280 C T rs61747212 CCSER2 Nonsynonymous SNV R228C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 151335 chr10 89264988 89264988 C T rs377727635 MINPP1 Nonsynonymous SNV H106Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.008 151336 chr8 1950883 1950883 G C KBTBD11 Nonsynonymous SNV G509R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.764 151337 chr10 94825984 94825984 G A rs200442762 CYP26C1 Nonsynonymous SNV R378H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 151338 chr7 100816685 100816685 G A rs143983491 NAT16 Synonymous SNV C143C 0.005 0.005 0.003 8 6 2 0.021 1 0 0 0 0 11.85 151339 chr2 241389258 241389258 C T rs143539970 LOC100130449 0 0 0.003 0 0 0 0 1 0 0 0 0 1.136 151340 chr2 241534124 241534124 C T rs536446683 CAPN10 Nonsynonymous SNV T332I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 151341 chr10 96954252 96954252 C T rs201256506 ACSM6 Stop gain R4X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.3 151342 chr6 42713230 42713230 C G TBCC Nonsynonymous SNV L194F 0.002 0 0 0 2 0 0 0 0 0 0 0 25 151343 chr6 42996940 42996940 A G rs148480237 RRP36 Nonsynonymous SNV R247G 0.003 0 0 0 3 0 0 0 0 0 0 0 27.2 151344 chr7 102760599 102760599 T G rs761759296 NAPEPLD Nonsynonymous SNV E122D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.384 151345 chr6 43267800 43267800 C T SLC22A7 Nonsynonymous SNV L273F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 151346 chr6 43269400 43269400 G A rs369939452 SLC22A7 Nonsynonymous SNV R342Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 151347 chr7 106509078 106509078 G T rs62001903 PIK3CG Nonsynonymous SNV D358Y 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 17.77 151348 chr7 106685408 106685408 A G PRKAR2B Nonsynonymous SNV E19G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 26.2 151349 chr9 114840837 114840837 G A rs147151457 SUSD1 Synonymous SNV S578S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 10.31 151350 chr8 22873221 22873221 G A rs117851304 RHOBTB2 Nonsynonymous SNV R651H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 34 151351 chr6 46657242 46657242 - TCTCAG rs528105328 TDRD6 S464_P465insQS 0.001 0 0 0 1 0 0 0 0 0 0 0 151352 chr6 46717689 46717689 C T rs148581598 ANKRD66 Synonymous SNV A42A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.77 151353 chr2 242757925 242757925 C T rs750673765 NEU4 Nonsynonymous SNV R349C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 151354 chr2 242945619 242945619 T C rs145862347 LOC285097 0 0 0.007 0 0 0 0 2 0 0 0 0 1.918 151355 chr8 143695546 143695546 C T ARC Synonymous SNV L29L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.22 151356 chr7 74103293 74103293 T C LOC101926943 0.001 0 0 0 1 0 0 0 0 0 0 0 0.77 151357 chr20 44538247 44538247 G A rs369025070 PLTP Synonymous SNV L43L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.31 151358 chr7 120655889 120655889 G A rs34283669 CPED1 Synonymous SNV G140G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.284 151359 chr7 120764443 120764443 T C rs17143165 CPED1 Nonsynonymous SNV I326T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.243 151360 chr2 26702480 26702480 G A rs373864355 OTOF Nonsynonymous SNV R652W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 151361 chr8 26722027 26722027 A C rs61757009 ADRA1A Nonsynonymous SNV S154A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 23 151362 chr7 75988084 75988084 G C rs1051511890 YWHAG Synonymous SNV A14A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.43 151363 chr7 122303528 122303528 T G rs754733386 CADPS2 Nonsynonymous SNV K183N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 151364 chr7 7712945 7712947 AGC - UMAD1 0.001 0 0 0 1 0 0 0 0 0 0 0 151365 chr9 124971914 124971914 C T rs765644564 LHX6 Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 151366 chr6 51748020 51748020 A G rs199559837 PKHD1 Synonymous SNV F2407F 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.44 151367 chr9 123367552 123367552 C T rs118083394 MEGF9 Synonymous SNV S575S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.97 151368 chr6 51936941 51936941 A G rs773995900 PKHD1 Nonsynonymous SNV S192P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.3 151369 chr9 123911019 123911019 G C rs150542959 CNTRL Nonsynonymous SNV V625L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.22 151370 chr9 123935983 123935983 G A CNTRL Nonsynonymous SNV E1640K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 151371 chr9 125152514 125152514 A T rs200856477 PTGS1 Nonsynonymous SNV H397L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 151372 chr9 126125396 126125396 C T rs542211566 CRB2 Nonsynonymous SNV P116L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 151373 chr6 56437738 56437738 A G rs201758531 DST Nonsynonymous SNV L1831S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 151374 chr9 126128596 126128596 C T rs771074871 CRB2 Synonymous SNV N235N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.16 151375 chr8 42128958 42128958 C T IKBKB Nonsynonymous SNV P24S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.34 151376 chr8 42611934 42611934 T C CHRNA6 Synonymous SNV T121T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 151377 chr7 92099010 92099010 A G ERVW-1 Nonsynonymous SNV I229T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 151378 chr8 145006317 145006317 G T PLEC Nonsynonymous SNV P674Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.5 151379 chr6 65655758 65655758 T G rs398123574 EYS Nonsynonymous SNV Q770P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.16 151380 chr2 39046208 39046208 G A rs907787793 DHX57 Nonsynonymous SNV L1022F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 151381 chr9 130511923 130511923 G A rs772902295 SH2D3C Nonsynonymous SNV R78C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 151382 chr11 102562610 102562610 T C rs35822551 MMP27 Nonsynonymous SNV I477V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.001 151383 chr8 59059194 59059194 G C FAM110B Synonymous SNV S135S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.167 151384 chr6 6654849 6654849 A G rs1802323 LY86 Nonsynonymous SNV M160V 0.005 0 0 0 6 0 0 0 0 0 0 0 0.316 151385 chr2 39509689 39509689 T C rs78142399 MAP4K3 Nonsynonymous SNV I511V 0 0 0.007 0 0 0 0 2 0 0 0 0 11.91 151386 chr8 145114778 145114778 C T rs370049811 OPLAH Nonsynonymous SNV R53H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 34 151387 chr9 130504230 130504230 G C rs753898347 SH2D3C Nonsynonymous SNV T484S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 151388 chr6 52761695 52761695 G A rs143163780 GSTA3 Nonsynonymous SNV T143M 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 20.3 151389 chr6 74134974 74134974 C T rs200618059 CGAS Synonymous SNV E515E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.259 151390 chr6 74304824 74304826 ATT - SLC17A5 N488del 0.002 0 0 0 2 0 0 0 0 0 0 0 151391 chr2 54040161 54040161 A C rs139630231 ERLEC1 Nonsynonymous SNV N339H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.8 151392 chr8 145738638 145738638 C T rs550469990 RECQL4 Nonsynonymous SNV G809E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 32 151393 chr8 1728418 1728418 G A rs144047076 CLN8 Synonymous SNV A182A 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Benign/Likely benign 5.798 151394 chr9 134321941 134321941 G A rs190045414 PRRC2B Nonsynonymous SNV R256H 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 27.7 151395 chr6 79912064 79912064 T C rs200614084 HMGN3 Nonsynonymous SNV K47E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 151396 chr9 134312046 134312046 G A rs199695338 PRRC2B Synonymous SNV P111P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 151397 chr7 142880840 142880840 A G TAS2R39 Nonsynonymous SNV Y110C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.39 151398 chr8 94747147 94747147 G A rs202226883 RBM12B Nonsynonymous SNV R498C 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 4.402 151399 chr20 62577807 62577807 G A rs201407701 UCKL1 Synonymous SNV I86I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.556 151400 chr8 20038474 20038474 A T rs375922895 SLC18A1 Star tloss M1? 0 0.005 0 0 0 2 0 0 0 0 0 0 24.5 151401 chr2 70890713 70890713 C T rs139265334 ADD2 Synonymous SNV T675T 0 0 0.014 0 0 0 0 4 0 0 0 0 9.229 151402 chr8 22006249 22006249 G A LGI3 Synonymous SNV Y357Y 0 0.005 0 0 0 2 0 0 0 0 0 0 1.077 151403 chr6 97562295 97562297 AAG - KLHL32 K287del 0.001 0 0 0 1 0 0 0 0 0 0 0 151404 chr9 136535868 136535868 C T rs746217416 SARDH Nonsynonymous SNV R778Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 151405 chr2 73718231 73718231 A G rs202228570 ALMS1 Nonsynonymous SNV I3048V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Uncertain significance 24.7 151406 chr21 30693612 30693612 G A rs141543969 BACH1 Nonsynonymous SNV S4N 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 23 151407 chr2 74757348 74757348 T C rs150047108 HTRA2 Nonsynonymous SNV L72P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.66 151408 chr11 117352791 117352791 G A rs756267742 DSCAML1 Nonsynonymous SNV R816W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.4 151409 chr7 100224521 100224521 G T TFR2 Synonymous SNV R496R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.28 151410 chr7 150035804 150035804 C G rs141033029 RARRES2 Nonsynonymous SNV Q134H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.3 151411 chr7 150648918 150648918 G A rs143011005 KCNH2 Synonymous SNV I181I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.398 151412 chr7 150771556 150771556 T A rs202145444 SLC4A2 Nonsynonymous SNV I945N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 151413 chr7 151668119 151668119 G A rs181262306 GALNTL5 Nonsynonymous SNV E113K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.493 151414 chr9 139848170 139848170 A G rs199975609 LCN12 Synonymous SNV T90T 0.001 0.008 0.003 1 1 3 0.003 1 0 1 0 0 0.056 151415 chr9 113457810 113457810 G C rs200750233 MUSK Nonsynonymous SNV R162S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 151416 chr9 114090194 114090194 C T rs746752901 OR2K2 Nonsynonymous SNV D174N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.245 151417 chr9 114176898 114176898 T C rs763093021 ECPAS Nonsynonymous SNV S600G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.3 151418 chr9 114348444 114348444 C A PTGR1 Nonsynonymous SNV V71F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.4 151419 chr9 114348445 114348445 T A PTGR1 Nonsynonymous SNV K70N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.41 151420 chr21 37741909 37741909 C T rs190267504 MORC3 Nonsynonymous SNV T677I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 151421 chr3 10005805 10005805 T A rs762838395 EMC3 Nonsynonymous SNV D245V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 151422 chr9 115946977 115946977 T C FKBP15 Nonsynonymous SNV K536E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.5 151423 chr8 140743371 140743371 T C TRAPPC9 Nonsynonymous SNV K1118R 0.003 0 0 0 4 0 0 0 0 0 0 0 23.4 151424 chr9 116187646 116187654 GCAGCAGCA - C9orf43 Q302_Q304del 0 0.003 0 0 0 1 0 0 0 0 0 0 151425 chr21 39494487 39494487 - T rs577081953 DSCR8 0.002 0 0 1 2 0 0.003 0 0 0 0 0 151426 chr8 142221626 142221626 C T rs201885053 SLC45A4 Nonsynonymous SNV C771Y 0.002 0 0 0 2 0 0 0 0 0 0 0 16.04 151427 chr3 10254969 10254969 G A rs148608407 IRAK2 Nonsynonymous SNV V203M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.6 151428 chr8 37756768 37756768 G A rs200363878 RAB11FIP1 Synonymous SNV P64P 0 0.005 0 0 0 2 0 0 0 0 0 0 9.235 151429 chr9 140611472 140611472 C T rs150135875 EHMT1 Synonymous SNV G129G 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign/Likely benign 12.25 151430 chr8 38050255 38050255 C A BAG4 Nonsynonymous SNV A107E 0 0.005 0 0 0 2 0 0 0 0 0 0 27.3 151431 chr21 41033363 41033363 T C rs139601001 B3GALT5 Synonymous SNV L293L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.029 151432 chr21 41505834 41505834 C T rs541446344 DSCAM Nonsynonymous SNV R1170H 0 0 0 2 0 0 0.005 0 0 0 0 0 29.9 151433 chr8 39468204 39468204 C G rs143967659 ADAM18 Stop gain Y167X 0 0.005 0.003 0 0 2 0 1 0 0 0 0 24.3 151434 chr9 15777752 15777752 G C CCDC171 Nonsynonymous SNV R950S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 151435 chr7 19156811 19156811 C T TWIST1 Nonsynonymous SNV S45N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.948 151436 chr7 20782690 20782690 G C ABCB5 Nonsynonymous SNV G627A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 151437 chr3 111831724 111831724 A - rs768252232 MIR567 0 0 0.017 0 0 0 0 5 0 0 0 0 151438 chr11 124310499 124310499 C G rs74383090 OR8B8 Synonymous SNV A161A 0.003 0.003 0 5 3 1 0.013 0 0 0 0 1 10.79 151439 chr9 19078257 19078257 C A rs111697063 HAUS6 Nonsynonymous SNV V370F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.3 151440 chr9 2058365 2058365 G A rs144434753 SMARCA2 Synonymous SNV Q474Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 11.82 151441 chr7 22478371 22478371 T C STEAP1B Nonsynonymous SNV I256V 0.002 0.005 0 0 2 2 0 0 1 0 0 0 0.002 151442 chr9 125154573 125154573 T C PTGS1 Nonsynonymous SNV F469S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 151443 chr9 21385006 21385006 T C rs765759299 IFNA2 Nonsynonymous SNV Y108C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 151444 chr7 100679783 100679783 A C rs775359730 MUC17 Nonsynonymous SNV T1696P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 151445 chr9 32466325 32466325 C T rs368263807 DDX58 Nonsynonymous SNV R767H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.895 151446 chr9 34564793 34564793 G A rs369796098 CNTFR Synonymous SNV D41D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.133 151447 chr8 77761833 77761833 C T rs369863550 ZFHX4 Nonsynonymous SNV P1244L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 27 151448 chr9 37426637 37426637 C T rs752869610 GRHPR Synonymous SNV I130I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.79 151449 chr7 100771765 100771765 G A rs141347752 SERPINE1 Nonsynonymous SNV V31M 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Uncertain significance 21.2 151450 chr7 100855180 100855180 G A rs11546152 PLOD3 Synonymous SNV A393A 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 Benign 10.71 151451 chr9 35685671 35685671 G A TPM2 Nonsynonymous SNV A116V 0.001 0 0 0 1 0 0 0 0 0 0 0 29 151452 chr21 47406884 47406884 G A rs192125814 COL6A1 Synonymous SNV T205T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 13.69 151453 chr21 47410727 47410727 C T rs142882745 COL6A1 Nonsynonymous SNV S348L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 151454 chr11 134027913 134027913 C G rs372398621 NCAPD3 Nonsynonymous SNV V1224L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.54 151455 chr11 14991511 14991511 A G rs145837941 CALCA Nonsynonymous SNV L66P 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 24.8 151456 chr9 37746579 37746579 A G FRMPD1 Nonsynonymous SNV H1517R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 151457 chr7 113518801 113518803 ATC - rs570461628 PPP1R3A D782del 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 151458 chr7 4026916 4026916 G A SDK1 Nonsynonymous SNV S698N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.3 151459 chr8 146003514 146003514 G A rs201500666 ZNF34 Synonymous SNV L23L 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 5.17 151460 chr8 146032871 146032871 G A rs775074943 ZNF517 Synonymous SNV S183S 0.004 0 0 3 5 0 0.008 0 0 0 0 0 4.09 151461 chr9 132576426 132576426 T C TOR1A Nonsynonymous SNV K275R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.333 151462 chr7 123302967 123302975 CCTCCTCCC - rs746809365 LMOD2 P446_P448del 0.001 0 0 0 1 0 0 0 0 0 0 0 151463 chr9 74360287 74360287 G T rs202203910 CEMIP2 Synonymous SNV G227G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.519 151464 chr9 82323122 82323122 A T rs181919110 TLE4 Synonymous SNV G248G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 5.233 151465 chr7 44555756 44555756 C T rs774455528 NPC1L1 Nonsynonymous SNV R1187H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 34 151466 chr3 129285452 129285452 C A PLXND1 Nonsynonymous SNV R1370L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 151467 chr7 126882766 126882766 T C rs752623431 GRM8 Nonsynonymous SNV I165V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 151468 chr7 44721390 44721390 C T rs368814406 OGDH Synonymous SNV L422L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.82 151469 chr9 105767091 105767091 C A rs139628328 CYLC2 Nonsynonymous SNV L99I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.02 151470 chr11 18955934 18955934 T C rs140351170 MRGPRX1 Nonsynonymous SNV H133R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 151471 chr11 19256376 19256376 C A rs141999878 E2F8 Nonsynonymous SNV E227D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 151472 chr9 107521616 107521617 AT - rs546236502 NIPSNAP3A *198delinsVFY* 0.002 0.005 0 0 2 2 0 0 0 0 0 0 151473 chr11 193808 193808 G T rs201435049 SCGB1C1, SCGB1C2 Nonsynonymous SNV G51V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.5 151474 chr9 95400340 95400340 G A rs775749892 IPPK Nonsynonymous SNV P287S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 151475 chr22 24494129 24494129 A T rs769254668 CABIN1 Nonsynonymous SNV K1314I 0 0 0 1 0 0 0.003 0 0 0 0 0 23 151476 chr9 137309155 137309155 G A rs61751479 RXRA Nonsynonymous SNV M157I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.99 151477 chr9 114304275 114304275 G A rs199941571 ZNF483 Nonsynonymous SNV A354T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.769 151478 chr9 114994396 114994396 T A rs201451925 PTBP3 Nonsynonymous SNV T268S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.094 151479 chr22 29693915 29693915 G A rs41311143 EWSR1 Nonsynonymous SNV G409S 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 25 151480 chr11 2688385 2688385 C T rs764942864 KCNQ1OT1 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.99 151481 chr7 55242454 55242454 G A rs587778250 EGFR Nonsynonymous SNV V475I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 151482 chr9 98871012 98871012 T C LOC158434 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.327 151483 chr11 284492 284492 C T rs752975307 NLRP6 Nonsynonymous SNV P796L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 3.346 151484 chrX 118893513 118893513 G A rs201436619 SOWAHD Nonsynonymous SNV G295S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.119 151485 chr3 148863285 148863285 A G rs374685364 HPS3 Nonsynonymous SNV K207R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 151486 chrX 124456530 124456530 C G rs938345894 TEX13C Nonsynonymous SNV N854K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.055 151487 chrX 103267971 103267971 C G rs782300187 H2BW1 Nonsynonymous SNV V88L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 151488 chr7 141885804 141885804 G A MGAM2 Nonsynonymous SNV V1335I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 151489 chr7 6543206 6543206 C A rs775123611 GRID2IP Synonymous SNV A941A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 151490 chr9 117568193 117568193 G A rs55683440 TNFSF15 Nonsynonymous SNV R34C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.108 151491 chr9 117803338 117803338 G A rs753403591 TNC Synonymous SNV D1758D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.446 151492 chrX 109694662 109694662 A T RTL9 Nonsynonymous SNV M273L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.048 151493 chrX 111003053 111003053 A G rs773452673 ALG13 Synonymous SNV P839P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.077 151494 chr9 123794458 123794458 C T rs369786622 C5 Synonymous SNV T206T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.746 151495 chrX 114425344 114425344 G A rs781812129 RBMXL3 Nonsynonymous SNV R447Q 0.003 0.003 0 0 4 1 0 0 1 0 0 0 18.86 151496 chr7 143771443 143771443 T A OR2A25 Nonsynonymous SNV I44N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 151497 chr9 123933811 123933811 G A rs370142724 CNTRL Synonymous SNV T1582T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.555 151498 chrX 118120908 118120908 A G rs182548747 LONRF3 Synonymous SNV S52S 0.003 0.008 0.017 0 4 3 0 5 1 1 2 0 20.2 151499 chr22 35802718 35802718 C T rs143875911 MCM5 Nonsynonymous SNV T199I 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 22.7 151500 chr11 3661129 3661129 C T rs149052085 ART5 Nonsynonymous SNV R177H 0.004 0.005 0.014 0 5 2 0 4 0 0 0 0 29.8 151501 chrX 119005968 119005968 G C rs1801316 NDUFA1 Nonsynonymous SNV G32R 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Benign/Likely benign 24.1 151502 chrX 119065925 119065925 A G NKAP Synonymous SNV L299L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.134 151503 chrX 140994066 140994066 G C rs140075882 MAGEC1 Nonsynonymous SNV Q292H 0.004 0.005 0.02 1 5 2 0.003 6 2 1 3 0 0.067 151504 chr7 1484418 1484418 T C rs61747084 MICALL2 Nonsynonymous SNV T430A 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 0.001 151505 chr11 3688550 3688550 C T rs764357729 CHRNA10 Synonymous SNV S63S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.74 151506 chr7 1484672 1484672 G A rs202218896 MICALL2 Nonsynonymous SNV P345L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 17.72 151507 chrX 124453973 124453973 C T TEX13C Nonsynonymous SNV A2V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.33 151508 chr8 37654976 37654976 C G rs752283010 ADGRA2 Nonsynonymous SNV R64G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 151509 chr7 149524011 149524011 C T rs762554193 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 1.46 151510 chr7 1488269 1488269 G A rs145238090 MICALL2 Synonymous SNV H107H 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Likely benign 7.417 151511 chrX 129189987 129189987 G C rs372065215 BCORL1 Nonsynonymous SNV R1671T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 151512 chr9 141014759 141014759 G A rs201114958 CACNA1B Nonsynonymous SNV R2058H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 32 151513 chr3 169684433 169684433 G A rs9836316 LOC100128164 0 0 0.078 0 0 0 0 23 0 0 2 0 5.474 151514 chrX 130215768 130215768 C G rs150725005 ARHGAP36 Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.49 151515 chr7 150489247 150489247 A G rs199899772 TMEM176B Nonsynonymous SNV I169T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 151516 chr7 150490310 150490310 G C rs60909345 TMEM176B Nonsynonymous SNV P119A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.001 151517 chr8 41561921 41561921 G T rs150899388 ANK1 Nonsynonymous SNV H723N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 151518 chr9 15571718 15571718 A G CCDC171 Synonymous SNV K46K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.101 151519 chr11 45249646 45249646 C T rs890266252 PRDM11 Nonsynonymous SNV A1157V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.881 151520 chrX 136113704 136113704 C T GPR101 Nonsynonymous SNV A44T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.997 151521 chr3 179069788 179069788 A T rs543329273 MFN1 Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 151522 chrX 139587159 139587159 T C SOX3 Nonsynonymous SNV S23G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.159 151523 chrX 153184483 153184483 C T ARHGAP4 Nonsynonymous SNV A279T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 151524 chr9 19332140 19332140 A C rs142191750 DENND4C Synonymous SNV V806V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 3.892 151525 chr7 151704986 151704986 A G rs200153922 GALNTL5 Nonsynonymous SNV D328G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.832 151526 chr7 1523412 1523412 G A INTS1 Synonymous SNV A1169A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.841 151527 chr3 183754595 183754595 A T rs539080120 HTR3D Nonsynonymous SNV T143S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 151528 chrX 153580977 153580977 C T rs201932105 FLNA Nonsynonymous SNV R2141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.44 151529 chr11 46920168 46920168 G A LRP4 Nonsynonymous SNV A246V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.96 151530 chr9 21481305 21481305 T G IFNE Nonsynonymous SNV K130T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.168 151531 chr7 92730719 92730719 G T rs760895283 SAMD9 Synonymous SNV G1564G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.574 151532 chr22 40657948 40657948 G A rs773792540 TNRC6B Synonymous SNV P76P 0 0 0 3 0 0 0.008 0 0 0 0 0 11.68 151533 chr7 151873345 151873345 C T rs781572773 KMT2C Nonsynonymous SNV E3065K 0 0 0 2 0 0 0.005 0 0 0 0 0 32 151534 chr9 131038881 131038881 G T rs148687834 SWI5 Synonymous SNV L91L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 1.398 151535 chrX 152226804 152226804 G A PNMA3 Synonymous SNV X464X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.842 151536 chr3 184035564 184035564 C A EIF4G1 Synonymous SNV G41G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 151537 chr7 98630600 98630600 T G LOC101927550 0 0.003 0 0 0 1 0 0 0 0 0 0 4.06 151538 chr7 158486018 158486018 C T rs61763006 NCAPG2 Nonsynonymous SNV E84K 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 24.1 151539 chrX 153175314 153175314 C G rs781998219 ARHGAP4 Synonymous SNV L765L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.318 151540 chrX 153219911 153219911 G A HCFC1 Synonymous SNV A1313A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.313 151541 chr3 184971762 184971762 G A rs769444169 EHHADH Stop gain R17X 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 36 151542 chrX 153674876 153674876 C T rs149558328 FAM50A Nonsynonymous SNV A137V 0.003 0.01 0 0 4 4 0 0 1 1 0 0 2.919 151543 chr9 37744804 37744804 C T rs142763511 FRMPD1 Synonymous SNV P925P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.18 151544 chr9 38395995 38395995 C T rs145597002 ALDH1B1 Nonsynonymous SNV R84W 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28.2 151545 chr22 46652917 46652917 G A rs780429129 PKDREJ Synonymous SNV F2101F 0 0 0 2 0 0 0.005 0 0 0 0 0 1.731 151546 chr9 134353151 134353151 C G rs201067043 PRRC2B Nonsynonymous SNV P1476R 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 25.9 151547 chrX 30326881 30326881 G C rs143141578 NR0B1 Nonsynonymous SNV C200W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.6 151548 chrX 49076225 49076227 TCC - rs782500267 CACNA1F E814del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 151549 chr3 194947440 194947440 T A rs116391422 XXYLT1 Nonsynonymous SNV K71I 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.9 151550 chr9 135218103 135218103 A C rs145438764 SETX Nonsynonymous SNV L158V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 151551 chrX 66905790 66905790 C T rs988430716 AR Stop gain R542X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.347 151552 chr22 50659342 50659342 G C TUBGCP6 Nonsynonymous SNV S1149W 0 0 0 1 0 0 0.003 0 0 0 0 0 12.06 151553 chr9 79323493 79323493 T C rs772415172 PRUNE2 Nonsynonymous SNV M1233V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.022 151554 chr9 136597592 136597592 T C rs149002589 SARDH Nonsynonymous SNV I155V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.65 151555 chr8 123964755 123964755 C T rs36092924 ZHX2 Synonymous SNV N335N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 8.808 151556 chrX 53574680 53574680 A T HUWE1 Synonymous SNV A3530A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.386 151557 chr9 104449330 104449330 C T rs777975392 GRIN3A Synonymous SNV Q284Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.507 151558 chrX 2936650 2936650 T C rs61736013 ARSH Synonymous SNV F280F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.008 151559 chr9 107267353 107267353 A G rs79621168 OR13F1 Nonsynonymous SNV I270M 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17.62 151560 chrX 69645922 69645922 G A GDPD2 Synonymous SNV R29R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.578 151561 chr8 124780951 124780951 A G FAM91A1 Nonsynonymous SNV I3M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 151562 chr3 38101313 38101313 G A rs149190717 DLEC1 Nonsynonymous SNV D215N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 12.93 151563 chr9 113139605 113139605 G A rs189890058 SVEP1 Nonsynonymous SNV R3484C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 151564 chrX 84363716 84363716 G C rs141330942 SATL1 Nonsynonymous SNV P87A 0.004 0 0.014 1 5 0 0.003 4 1 0 1 0 0.416 151565 chrX 45051195 45051195 T C DIPK2B Nonsynonymous SNV N100S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 151566 chr7 44735699 44735699 A G OGDH Nonsynonymous SNV K578E 0 0 0 1 0 0 0.003 0 0 0 0 0 32 151567 chr9 116930253 116930253 G A rs373617346 COL27A1 Nonsynonymous SNV G140R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 151568 chr9 140450001 140450001 C T rs149407940 DPH7 Nonsynonymous SNV R216Q 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 3.888 151569 chrX 124454312 124454312 G A TEX13C Nonsynonymous SNV R115H 0 0.005 0 0 0 2 0 0 0 1 0 0 4.122 151570 chr10 105233174 105233174 - GGGGGCTCAGGCACTGCG rs143800079 CALHM3 P277_E278insAVPEPP 0.004 0 0.01 0 5 0 0 3 1 0 1 0 151571 chrX 63412249 63412249 C T rs147299494 AMER1 Synonymous SNV G306G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.198 151572 chr10 106027109 106027109 T C rs765820640 GSTO1 Synonymous SNV G191G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.698 151573 chrX 140994085 140994085 C G rs176046 MAGEC1 Nonsynonymous SNV P299A 0.003 0.01 0.014 0 3 4 0 4 1 2 2 0 8.053 151574 chr3 47030865 47030865 G A rs199797249 NBEAL2 Nonsynonymous SNV R149H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.85 151575 chr9 125240181 125240181 C T rs751851609 OR1J1 Nonsynonymous SNV V9M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.438 151576 chr3 47163029 47163029 T C rs145759179 SETD2 Nonsynonymous SNV T989A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 7.695 151577 chrX 151821019 151821019 G T rs781850425 GABRQ Nonsynonymous SNV V392L 0.008 0.008 0 2 9 3 0.005 0 4 1 0 1 2.114 151578 chrX 152988981 152988981 G A rs782638238 BCAP31 Nonsynonymous SNV H47Y 0.003 0.008 0 0 4 3 0 0 2 1 0 0 16.63 151579 chrX 153033349 153033349 G A PLXNB3 Nonsynonymous SNV R356H 0.003 0.008 0 0 4 3 0 0 2 1 0 0 20.4 151580 chr7 56007224 56007224 A G rs765969592 ZNF713 Nonsynonymous SNV Y273C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.5 151581 chrX 129349833 129349833 T C ZNF280C Synonymous SNV K590K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.492 151582 chr3 52256084 52256084 T C rs148411655 TLR9 Nonsynonymous SNV S750G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 151583 chr3 52424975 52424975 C G rs200158571 DNAH1 Nonsynonymous SNV L3216V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Uncertain significance 23.5 151584 chr10 121587063 121587065 CTT - rs201053908 INPP5F S448del 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 151585 chrX 135338470 135338470 G A rs372476251 MAP7D3 Synonymous SNV S3S 0 0 0 2 0 0 0.005 0 0 0 0 0 2.724 151586 chr9 38423978 38423978 G A rs370381860 IGFBPL1 Synonymous SNV D148D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.45 151587 chrX 135429119 135429119 T G rs142623843 ADGRG4 Nonsynonymous SNV I1085S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.87 151588 chrX 135430504 135430504 T A rs143353057 ADGRG4 Nonsynonymous SNV C1547S 0.009 0.013 0 2 10 5 0.005 0 1 2 0 0 0.64 151589 chrX 135432359 135432359 C A rs763627658 ADGRG4 Nonsynonymous SNV P2165H 0.007 0.008 0 2 8 3 0.005 0 1 1 0 0 0.804 151590 chrX 31497197 31497197 A G rs72466570 DMD Synonymous SNV T128T 0.003 0.005 0.003 2 3 2 0.005 1 0 1 0 1 Benign/Likely benign 0.649 151591 chr9 131476361 131476361 C T rs41275912 PKN3 Nonsynonymous SNV R425W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 151592 chr10 129907284 129907284 T C MKI67 Synonymous SNV E580E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.019 151593 chr7 86394656 86394656 G T rs185236143 GRM3 Synonymous SNV G65G 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 2.35 151594 chrX 57475125 57475125 C T FAAH2 Nonsynonymous SNV T426I 0 0.005 0 0 0 2 0 0 0 1 0 0 14.29 151595 chr7 80292426 80292426 G A rs138897347 CD36 Nonsynonymous SNV D29N 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 26.3 151596 chr3 66433823 66433823 T A rs762753819 LRIG1 Nonsynonymous SNV T692S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 151597 chrX 153716464 153716464 G A rs782324501 SLC10A3 Synonymous SNV L272L 0.002 0 0 2 2 0 0.005 0 1 0 0 0 4.738 151598 chr3 69158248 69158248 A G rs749851437 LMOD3 X561Q 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 13.44 151599 chr7 86990834 86990834 A G rs780481683 CROT Synonymous SNV E123E 0.003 0 0 0 4 0 0 0 0 0 0 0 2.136 151600 chr8 22078920 22078920 G A rs113533102 PHYHIP Synonymous SNV A313A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.25 151601 chr7 939122 939122 C T rs117710032 ADAP1 Synonymous SNV T172T 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 17.67 151602 chr9 88916332 88916332 G A rs371713723 TUT7 Synonymous SNV L1191L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.139 151603 chr7 99527171 99527171 G A rs769013583 GJC3 Nonsynonymous SNV L25F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 151604 chr7 99527174 99527174 A G rs369238737 GJC3 Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.717 151605 chr7 99769530 99769530 G T rs757303451 GPC2 Nonsynonymous SNV P348T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 151606 chr8 100791158 100791158 G A rs111751379 VPS13B Nonsynonymous SNV E2585K 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.177 151607 chr1 3328438 3328438 C A rs754668340 PRDM16 Synonymous SNV V559V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.017 151608 chr11 59189574 59189574 C T rs748854856 OR5A2 Nonsynonymous SNV V285M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.079 151609 chr10 26581489 26581489 G A GAD2 Synonymous SNV V494V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 151610 chrX 102586591 102586591 A G rs763659430 TCEAL7 Nonsynonymous SNV H87R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.79 151611 chr1 3687972 3687972 T C CCDC27 Nonsynonymous SNV I619T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 151612 chr9 139395262 139395262 C T rs763584589 NOTCH1 Synonymous SNV G1892G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.38 151613 chr10 24508773 24508773 C A KIAA1217 Nonsynonymous SNV L97M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 151614 chr8 105502966 105502966 C T rs150116835 LRP12 Nonsynonymous SNV D820N 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 24.9 151615 chr4 113541346 113541346 C T rs148197910 ZGRF1 Nonsynonymous SNV V55M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 151616 chr8 38369926 38369926 A C rs74846385 C8orf86 Nonsynonymous SNV I189M 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 7.951 151617 chr4 119259449 119259449 C T rs145151396 PRSS12 Nonsynonymous SNV G175S 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 151618 chr8 48613033 48613033 G A rs61735907 SPIDR Nonsynonymous SNV R90H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.325 151619 chr10 118435932 118435932 G A rs781955087 HSPA12A Synonymous SNV I456I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 151620 chr4 123254784 123254784 G A rs149506836 KIAA1109 Synonymous SNV R3822R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 151621 chr4 126237697 126237697 A C rs200221425 FAT4 Nonsynonymous SNV E44A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.03 151622 chr10 124008194 124008194 C T rs576383974 TACC2 Nonsynonymous SNV T858M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 151623 chr4 126411164 126411164 T C rs200729108 FAT4 Nonsynonymous SNV I4397T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 10.25 151624 chr11 6221169 6221169 A C rs10839531 OR52W1 Nonsynonymous SNV H239P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.23 151625 chrX 13753408 13753408 A G rs147114577 OFD1 Synonymous SNV E18E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.228 151626 chr4 129880770 129880770 G A rs34546934 SCLT1 Synonymous SNV N344N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 2.591 151627 chr8 12878977 12878977 G C rs140059644 TRMT9B Nonsynonymous SNV K137N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 151628 chrX 140993927 140994031 TGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAG - MAGEC1 F252_S286del 0.003 0.003 0.007 3 3 1 0.008 2 1 0 1 1 151629 chr4 140641015 140641015 G A rs749295587 MAML3 Nonsynonymous SNV A960V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 151630 chr10 50732106 50732106 T C rs888940189 ERCC6 Nonsynonymous SNV D457G 0.002 0 0 0 2 0 0 0 0 0 0 0 32 151631 chr9 22447590 22447590 G T rs200745233 DMRTA1 Nonsynonymous SNV G176C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.286 151632 chr8 133673803 133673803 C T rs758504235 LRRC6 Synonymous SNV S27S 0 0 0 2 0 0 0.005 0 0 0 0 0 17.21 151633 chr8 86047151 86047151 C T rs368500807 LRRCC1 Stop gain R301X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 42 151634 chr4 154544234 154544234 C T rs553482784 TMEM131L Synonymous SNV A1348A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.155 151635 chr8 92378880 92378880 A G rs141931769 SLC26A7 Nonsynonymous SNV T220A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.056 151636 chr8 93898951 93898951 C T TRIQK Nonsynonymous SNV V54I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.08 151637 chr8 142221684 142221684 A G rs779358878 SLC45A4 Nonsynonymous SNV C752R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 151638 chr8 142266722 142266722 C T rs773948703 LOC105375787 0.003 0 0 0 4 0 0 0 0 0 0 0 8.923 151639 chr8 142367694 142367694 G A rs149972765 GPR20 Synonymous SNV F110F 0.003 0 0 0 4 0 0 0 0 0 0 0 0.524 151640 chr8 143623480 143623480 C T rs375360143 ADGRB1 Synonymous SNV P1295P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.29 151641 chr10 5415963 5415963 C T rs782142877 UCN3 Nonsynonymous SNV R94W 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.5 151642 chr9 35906601 35906601 - CCACCACACCCCTCACCACACCCCTCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPHHTPHHLHHHHHHHH 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 151643 chr11 64975703 64975703 C T rs200944311 CAPN1 Nonsynonymous SNV R567W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 35 151644 chrX 27840405 27840405 G A rs146965052 MAGEB10 Nonsynonymous SNV V328I 0.003 0.01 0 1 4 4 0.003 0 1 0 0 0 0.499 151645 chr4 177094435 177094435 G T rs1054092016 WDR17 Nonsynonymous SNV D1088Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 151646 chr10 6154206 6154206 C T rs763616118 RBM17 Synonymous SNV Y246Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.06 151647 chr4 178261002 178261002 C G NEIL3 Synonymous SNV L231L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 151648 chr8 144657252 144657252 C T rs142172599 NAPRT Synonymous SNV P459P 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 13.89 151649 chr4 184019033 184019033 T G rs114170858 WWC2-AS2 0 0 0.027 0 0 0 0 8 0 0 0 0 9.37 151650 chr8 144732055 144732055 T C rs553214367 ZNF623 Nonsynonymous SNV S5P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.905 151651 chr11 66103554 66103554 G A rs761483367 RIN1 Synonymous SNV R26R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.534 151652 chr11 66243398 66243398 G A rs143139613 PELI3 Synonymous SNV V283V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.104 151653 chr8 144945176 144945176 A C rs570102962 EPPK1 Nonsynonymous SNV F749C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 151654 chr9 73233831 73233831 G A rs749023405 TRPM3 Synonymous SNV T748T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.24 151655 chr11 66625687 66625687 C T rs143583956 LRFN4 Nonsynonymous SNV R158W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 31 151656 chr10 70248328 70248328 G C rs747033519 SLC25A16 Synonymous SNV T89T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.743 151657 chr10 70404950 70404950 G A rs376967368 TET1 Nonsynonymous SNV V822I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.141 151658 chr11 67119476 67119476 T C rs141546876 POLD4 Nonsynonymous SNV I68V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.7 151659 chr11 67219844 67219844 C T rs148000171 GPR152 Nonsynonymous SNV G118S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.3 151660 chr8 144996868 144996868 G A rs543422533 PLEC Nonsynonymous SNV A2396V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 151661 chrX 67738628 67738628 T C rs1007823614 YIPF6 Synonymous SNV P51P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.776 151662 chr10 27303497 27303497 G A rs377587261 ANKRD26 Synonymous SNV T1549T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.975 151663 chr1 25291006 25291006 G T rs143410594 RUNX3 Synonymous SNV R19R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 3.103 151664 chr10 79613247 79613247 G A rs772203646 DLG5 Synonymous SNV D243D 0.003 0 0 0 3 0 0 0 0 0 0 0 12.37 151665 chr4 26667960 26667960 A G rs762376943 TBC1D19 Synonymous SNV E134E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.163 151666 chr8 145692359 145692359 G A rs760516858 KIFC2 Nonsynonymous SNV D66N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 151667 chr11 70319235 70319235 C T rs782033372 SHANK2 Synonymous SNV S1175S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.46 151668 chr8 145741168 145741168 G C rs560681030 RECQL4 Nonsynonymous SNV A413G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.4 151669 chr8 145741169 145741169 C T rs531310005 RECQL4 Nonsynonymous SNV A413T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 22.2 151670 chr4 30921915 30921915 G T rs544189364 PCDH7 Synonymous SNV A1105A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 151671 chr1 28863367 28863367 C T rs759710734 RCC1 Nonsynonymous SNV S349L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 151672 chr11 71152329 71152329 G A rs74909468 DHCR7 Synonymous SNV A190A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 9.825 151673 chr8 145806291 145806291 C G ARHGAP39 Nonsynonymous SNV E151Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.51 151674 chr10 33486633 33486633 G C NRP1 Synonymous SNV G588G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.404 151675 chr11 71192998 71192998 G C NADSYN1 Synonymous SNV G359G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.446 151676 chr10 7765529 7765529 A G rs76140242 ITIH2 Nonsynonymous SNV Q328R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.7 151677 chr11 72421581 72421581 C T rs148377320 ARAP1 Nonsynonymous SNV R177H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.52 151678 chr1 32646953 32646953 G A rs148729066 TXLNA Nonsynonymous SNV G94S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.694 151679 chr11 74638492 74638492 C T rs780026133 XRRA1 Nonsynonymous SNV A148T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 151680 chr8 18393328 18393328 G A rs202153919 PSD3 Synonymous SNV A489A 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 8.964 151681 chr11 75146566 75146566 G A rs201881925 GDPD5 Nonsynonymous SNV R464W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 151682 chr1 34166210 34166210 C T rs146082635 CSMD2 Nonsynonymous SNV G1214R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 151683 chr8 190906 190906 C T rs753943329 ZNF596 Nonsynonymous SNV P4L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 151684 chr4 41663489 41663489 G A rs139738687 LIMCH1 Nonsynonymous SNV G479E 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 0.279 151685 chr10 90574981 90574981 G - rs138170497 LIPM G238Dfs*26 0.004 0 0 1 5 0 0.003 0 0 0 0 0 151686 chr10 48388955 48388955 C A rs782245115 RBP3 Nonsynonymous SNV E641D 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Uncertain significance 17.28 151687 chr9 127054799 127054799 A G rs373723730 NEK6 Synonymous SNV R9R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 3.025 151688 chr9 127118985 127118985 T C rs115602550 LOC100129034 0.003 0.008 0 0 4 3 0 0 0 0 0 0 3.054 151689 chr9 127635986 127635986 G C rs36037375 ARPC5L Synonymous SNV R55R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 9.523 151690 chr8 22168668 22168668 T A rs140302382 PIWIL2 Nonsynonymous SNV M615K 0.003 0 0 0 4 0 0 0 0 0 0 0 17.18 151691 chr8 22472464 22472464 C T CCAR2 Synonymous SNV I385I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 151692 chr8 22442536 22442536 G C rs369965465 PDLIM2 Nonsynonymous SNV V108L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.987 151693 chr11 800563 800563 C T rs113725585 PIDD1 Nonsynonymous SNV R674H 0.006 0.01 0.003 1 7 4 0.003 1 0 0 0 0 26 151694 chr4 56858162 56858162 G A rs375822537 CEP135 Synonymous SNV S640S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.811 151695 chr4 56878073 56878073 A G rs113687114 CEP135 Synonymous SNV R908R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.602 151696 chr11 82561055 82561056 AT - rs780708629 PRCP F113Yfs*9 0.007 0 0 1 8 0 0.003 0 0 0 0 0 151697 chr10 98109572 98109572 G T OPALIN Synonymous SNV P5P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.516 151698 chr8 25230129 25230129 C T rs773467903 DOCK5 Synonymous SNV F1193F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.578 151699 chr4 57797272 57797272 T A rs139336427 REST Nonsynonymous SNV S750T 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.342 151700 chr4 57891108 57891108 C T rs749833549 POLR2B Synonymous SNV N932N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 151701 chr9 131346710 131346710 C A rs34084388 SPTAN1 Synonymous SNV A781A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 15.12 151702 chr9 131389748 131389748 C T rs112955915 SPTAN1 Synonymous SNV N2195N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 15.63 151703 chr11 87020638 87020638 G A rs371734727 TMEM135 Nonsynonymous SNV R265Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.1 151704 chr1 43772905 43772905 G A rs184359533 TIE1 Nonsynonymous SNV V200I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.055 151705 chr10 63983065 63983065 T C RTKN2 Nonsynonymous SNV H238R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.36 151706 chr8 28974430 28974430 C T rs201358234 KIF13B Nonsynonymous SNV R1252H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 151707 chr1 43888907 43888907 C T rs777799016 SZT2 Synonymous SNV P725P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.567 151708 chr9 131597679 131597679 T C rs146402491 KYAT1 Nonsynonymous SNV R299G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.16 151709 chr9 132566536 132566536 A G rs149002140 TOR1B Synonymous SNV P128P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.494 151710 chr9 132595960 132595960 C T rs144757496 C9orf78 Nonsynonymous SNV V58I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.23 151711 chr1 45189877 45189877 G A rs372851998 ARMH1 Nonsynonymous SNV V270I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.596 151712 chr8 31024656 31024656 T C rs201955394 WRN Synonymous SNV C1367C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.391 151713 chr9 133223930 133223930 A G rs759673111 HMCN2 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 21.4 151714 chr1 46500523 46500523 G A rs758270301 MAST2 Synonymous SNV A1393A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.44 151715 chr8 38677341 38677341 C T rs765384775 TACC1 Synonymous SNV D193D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 151716 chr10 128851003 128851003 G A rs745821655 DOCK1 Nonsynonymous SNV E754K 0 0.008 0 5 0 3 0.013 0 0 0 0 0 22.4 151717 chr8 42294940 42294940 C G rs748895007 SLC20A2 Nonsynonymous SNV D364H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 151718 chr1 52956421 52956421 C T TUT4 Synonymous SNV V457V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.18 151719 chr8 54141880 54141880 C T rs9282808 OPRK1 Nonsynonymous SNV D374N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 15.05 151720 chr8 54142052 54142052 G A rs78517449 OPRK1 Synonymous SNV I316I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 12.74 151721 chr8 54965220 54965220 G A rs11549448 LYPLA1 Nonsynonymous SNV P137S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 17.51 151722 chr4 8098826 8098826 C T rs776555335 ABLIM2 Nonsynonymous SNV R113Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 151723 chr8 59488504 59488504 G T rs767373376 SDCBP Nonsynonymous SNV V96L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.34 151724 chr10 74660187 74660187 C A rs146090082 OIT3 Nonsynonymous SNV S163R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.25 151725 chr10 75860740 75860740 A G rs71579374 VCL Nonsynonymous SNV H636R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 151726 chr1 55175704 55175704 G A rs762197518 MROH7 Stop gain W790X 0 0 0 2 0 0 0.005 0 0 0 0 0 40 151727 chr10 77161159 77161159 G A rs779751573 ZNF503 Nonsynonymous SNV L7F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 151728 chr8 67359532 67359532 C T ADHFE1 Nonsynonymous SNV T195I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 151729 chr8 72942165 72942165 G A TRPA1 Nonsynonymous SNV H970Y 0 0 0 1 0 0 0.003 0 0 0 0 0 19.74 151730 chr4 87672251 87672251 A G rs200688335 PTPN13 Nonsynonymous SNV E1047G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.3 151731 chr4 88536692 88536692 A G rs111216113 DSPP Nonsynonymous SNV S960G 0 0 0.02 0 0 0 0 6 0 0 3 0 4.99 151732 chr8 71075001 71075001 G A NCOA2 Synonymous SNV F153F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.35 151733 chr9 139697231 139697231 A G rs111887165 CCDC183 Nonsynonymous SNV E220G 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 13.39 151734 chr4 90857252 90857252 A G rs112060647 MMRN1 Synonymous SNV A807A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.007 151735 chr11 112041221 112041221 A G rs113640749 TEX12 Nonsynonymous SNV Y48C 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12.71 151736 chr11 112085585 112085587 ATC - BCO2 H406del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 151737 chr11 113234571 113234571 C T rs778877621 TTC12 Nonsynonymous SNV R555C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 151738 chr4 96036878 96036878 A G rs759423600 BMPR1B Nonsynonymous SNV T97A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 13.73 151739 chr8 94746561 94746561 C T rs761620409 RBM12B Nonsynonymous SNV R693Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24 151740 chr11 10786136 10786136 G A rs368774420 CTR9 Synonymous SNV A485A 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 5.401 151741 chr5 101774327 101774327 G A SLCO6A1 Nonsynonymous SNV L362F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 151742 chr1 67804336 67804336 A T rs150877640 IL12RB2 Nonsynonymous SNV M330L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 151743 chr9 140110737 140110737 A G rs75647712 NDOR1 Nonsynonymous SNV M564V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.9 151744 chr1 3753207 3753207 T C rs145728798 CEP104 Nonsynonymous SNV H390R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.248 151745 chr12 113515670 113515670 C T rs530209090 DTX1 Nonsynonymous SNV P234L 0.007 0.005 0.003 0 8 2 0 1 0 0 0 0 7.357 151746 chr9 140174128 140174128 C G rs79194624 TOR4A Synonymous SNV A329A 0 0.005 0.01 0 0 2 0 3 0 0 0 0 8.635 151747 chr1 6521644 6521644 G A TNFRSF25 Synonymous SNV I185I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.66 151748 chr12 117693822 117693822 A C rs200972861 NOS1 Nonsynonymous SNV F851C 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 24.1 151749 chr8 99779588 99779588 C T rs187757501 STK3 Nonsynonymous SNV S40N 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 29.5 151750 chr10 99116928 99116928 A G RRP12 Nonsynonymous SNV F1173L 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 151751 chr9 16552651 16552651 C T rs749503846 BNC2 Synonymous SNV V140V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.553 151752 chr11 11362462 11362462 G A rs944728907 GALNT18 Synonymous SNV L394L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.03 151753 chr11 11394148 11394159 CAATGAAGCAGC - GALNT18 G332_I335del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 151754 chr9 20881957 20881957 C T rs79849792 FOCAD Nonsynonymous SNV A802V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.994 151755 chr5 127697448 127697448 T C rs762606715 FBN2 Nonsynonymous SNV Y841C 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 26.2 151756 chr12 122481898 122481898 C T rs111620654 BCL7A Synonymous SNV D126D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.798 151757 chr5 130799740 130799740 T C rs149719906 RAPGEF6 Nonsynonymous SNV N825S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.995 151758 chr12 123435081 123435081 G A rs138231319 ABCB9 Synonymous SNV R211R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.904 151759 chr1 12837358 12837358 G A rs201553868 PRAMEF12 Synonymous SNV E356E 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.398 151760 chr11 120298916 120298916 C T rs147982337 ARHGEF12 Nonsynonymous SNV S163F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.69 151761 chr9 37126682 37126682 G A rs35119826 ZCCHC7 Nonsynonymous SNV G118D 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.002 151762 chr9 37304280 37304280 T C rs34242363 ZCCHC7 Synonymous SNV G250G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 6.704 151763 chr9 37305603 37305603 C A rs35378147 ZCCHC7 Synonymous SNV P281P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 8.607 151764 chr9 37588925 37588925 T C rs895080009 TOMM5 Synonymous SNV P42P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.113 151765 chr12 129308265 129308265 C G rs201649968 SLC15A4 Nonsynonymous SNV S75T 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 17.13 151766 chr5 139744049 139744049 G A rs575549610 SLC4A9 Nonsynonymous SNV R486H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 151767 chr9 6014446 6014446 T G rs75343172 RANBP6 Nonsynonymous SNV M388L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 151768 chr12 132636056 132636056 C G rs368443691 NOC4L Synonymous SNV A367A 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 8.876 151769 chr12 133306808 133306808 C T rs149597645 ANKLE2 Nonsynonymous SNV S647N 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 24.6 151770 chr9 119460867 119460867 G A rs375537493 TRIM32 Synonymous SNV K282K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 7.776 151771 chr10 55582209 55582217 AGGAGGAGA - rs727503363 PCDH15 S1717_P1719del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 151772 chr11 124190033 124190033 G A rs141752612 OR8D2 Nonsynonymous SNV P21S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 7.711 151773 chr5 140579593 140579593 G T rs116026964 PCDHB11 Synonymous SNV G82G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.823 151774 chr5 140589234 140589234 T G rs144462785 PCDHB12 Nonsynonymous SNV L252R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 151775 chr9 124535288 124535288 C T rs35706546 DAB2IP Synonymous SNV S703S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 151776 chr9 124855220 124855220 G A rs61742325 TTLL11 Nonsynonymous SNV P160S 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 12.79 151777 chr9 124855459 124855459 - CCG rs752683967 TTLL11 A79_V80insA 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 151778 chr5 140729849 140729849 G A rs199858823 PCDHGB1 Nonsynonymous SNV E8K 0 0 0.007 0 0 0 0 2 0 0 0 0 2.559 151779 chr9 125140287 125140287 C T rs3842790 PTGS1 Synonymous SNV C68C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.02 151780 chr9 125273916 125273916 C T rs78611864 OR1J2 Nonsynonymous SNV T279M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 151781 chr11 130288975 130288975 G A rs34271961 ADAMTS8 Synonymous SNV Y311Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.38 151782 chr11 103128380 103128380 T C rs758776022 DYNC2H1 Nonsynonymous SNV M3502T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 151783 chr11 1031857 1031857 G A rs746559826 MUC6 Synonymous SNV S104S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.896 151784 chr12 16189194 16189194 G A rs779490135 DERA Nonsynonymous SNV R217H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 151785 chr1 112991623 112991623 T C rs17030326 CTTNBP2NL Synonymous SNV P53P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.647 151786 chr9 79895081 79895081 A G rs774168415 VPS13A Nonsynonymous SNV N944S 0 0.005 0 0 0 2 0 0 0 0 0 0 10.96 151787 chr1 114253067 114253067 G A rs779942328 PHTF1 Stop gain R74X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 38 151788 chr5 145613170 145613170 - CCAGGTCCAGGCCCAGGCCCGGGC RBM27 G358_H359insPGPGPGPG 0 0 0.003 0 0 0 0 1 0 0 0 0 151789 chr11 108153490 108153490 G A rs587778073 ATM Nonsynonymous SNV M1210I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.7 151790 chr1 115537503 115537503 G T rs146836664 SYCP1 Nonsynonymous SNV A907S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 6.156 151791 chr1 116247824 116247824 C T rs141314684 CASQ2 Nonsynonymous SNV D310N 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 151792 chr9 130164877 130164877 G A rs761757532 SLC2A8 Nonsynonymous SNV V27M 0 0 0 1 0 0 0.003 0 0 0 0 0 17.57 151793 chr9 96024253 96024253 C T rs148621666 WNK2 Nonsynonymous SNV T1075M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 151794 chr9 130279432 130279432 G A NIBAN2 Synonymous SNV L244L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.74 151795 chr5 149546609 149546609 C T rs768800940 CDX1 Nonsynonymous SNV P57L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.95 151796 chr11 18105146 18105146 T C SAAL1 Nonsynonymous SNV H392R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 151797 chr11 114270942 114270942 C T rs764017168 C11orf71 Nonsynonymous SNV G38R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.2 151798 chr11 118765283 118765283 G A rs665648 CXCR5 Nonsynonymous SNV G299S 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 8.377 151799 chr5 154190810 154190810 T C rs80111507 LARP1 Synonymous SNV Y677Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.705 151800 chr1 152082887 152082887 G A rs201773860 TCHH Synonymous SNV L936L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.87 151801 chr11 2169235 2169235 G C rs961083715 IGF2-AS 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.493 151802 chrX 135593726 135593726 G A rs777353312 HTATSF1 Nonsynonymous SNV E608K 0.001 0.005 0 0 1 2 0 0 0 1 0 0 23.4 151803 chr11 2683398 2683398 C T KCNQ1OT1 0.002 0 0 0 2 0 0 0 0 0 0 0 9.52 151804 chr11 123489414 123489414 G T rs375428225 GRAMD1B Nonsynonymous SNV V599F 0.002 0 0 0 2 0 0 0 0 0 0 0 32 151805 chr1 35227074 35227074 C T rs143547547 GJB4 Synonymous SNV H73H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 19.37 151806 chr5 169535204 169535204 C T rs35678180 FOXI1 Synonymous SNV S242S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.342 151807 chr9 136535808 136535808 G A rs778121669 SARDH Nonsynonymous SNV T798I 0 0 0 4 0 0 0.01 0 0 0 0 0 25.7 151808 chr11 2325427 2325427 T C rs61744929 TSPAN32 Nonsynonymous SNV M91T 0.009 0.013 0.003 1 11 5 0.003 1 0 0 0 0 19.41 151809 chr12 49463531 49463531 C G rs368740314 RHEBL1 Nonsynonymous SNV G13A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26.8 151810 chr12 49724583 49724583 G A rs528240447 TROAP Nonsynonymous SNV R652K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.584 151811 chr10 95326977 95326977 C T rs778733130 FFAR4 Nonsynonymous SNV A167V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.9 151812 chr11 124096292 124096292 A C rs146368781 OR8G2P Nonsynonymous SNV N299H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.549 151813 chr12 50041546 50041546 G A rs748703250 FMNL3 Synonymous SNV P855P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.906 151814 chr11 2606518 2606518 C T rs775362401 KCNQ1 Nonsynonymous SNV A370V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Uncertain significance 33 151815 chr9 138390445 138390445 C T rs533085223 C9orf116 Nonsynonymous SNV V70M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 151816 chr11 124517292 124517292 G A rs144510878 SIAE Nonsynonymous SNV T312M 0.002 0 0 0 2 0 0 0 0 0 0 0 risk factor 27.8 151817 chr1 156883666 156883666 C T rs138815244 PEAR1 Synonymous SNV L912L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.09 151818 chr1 158619650 158619650 G A rs562374100 SPTA1 Nonsynonymous SNV H1189Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.4 151819 chr1 43778061 43778061 C T rs760738475 TIE1 Synonymous SNV P527P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.35 151820 chr11 46747555 46747555 G A rs148020569 F2 Nonsynonymous SNV A236T 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 2.762 151821 chr5 1878277 1878277 C T rs772095275 IRX4 Nonsynonymous SNV A456T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 151822 chr1 44605770 44605811 TCTGGTTACCAGTGGAGGTCATCATCTGCCCCCAGTAGAGGG - KLF18 T498_Q511del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 151823 chr5 26988417 26988417 T C rs773597398 CDH9 Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.197 151824 chr5 2752398 2752398 G C rs190299244 C5orf38 Nonsynonymous SNV R7P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 151825 chr11 129744746 129744746 G A rs367799283 NFRKB Synonymous SNV Y665Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.289 151826 chr5 31526874 31526874 G A rs201445638 DROSHA Nonsynonymous SNV P56S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22 151827 chr11 1651435 1651435 G C rs201941213 KRTAP5-5 Nonsynonymous SNV C122S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.716 151828 chr1 51584465 51584465 C T rs184105748 C1orf185 Stop gain Q84X 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 37 151829 chr9 14740229 14740229 G A rs187325866 FREM1 Nonsynonymous SNV P534S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.582 151830 chrX 92964787 92964787 G C rs143132695 FAM133A Nonsynonymous SNV E123D 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Likely benign 9.99 151831 chr1 53679096 53679096 T C rs147953465 CPT2 Synonymous SNV F602F 0.004 0.003 0.007 3 5 1 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 151832 chr1 54678239 54678239 C A rs763243378 MRPL37 Synonymous SNV R300R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.49 151833 chr10 104130521 104130521 T C rs778120294 GBF1 Synonymous SNV V1188V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.901 151834 chr5 446407 446407 G A rs780741777 EXOC3 Synonymous SNV V29V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 151835 chr10 104489488 104489488 G A rs753144849 SFXN2 Synonymous SNV P172P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.84 151836 chr10 104557813 104557813 G A rs767843051 WBP1L Nonsynonymous SNV G52R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 151837 chr12 57328011 57328011 C T rs751354444 SDR9C7 Nonsynonymous SNV R12H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.4 151838 chr12 57619347 57619347 G T NXPH4 Synonymous SNV P248P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.19 151839 chr9 32633423 32633423 T C TAF1L Nonsynonymous SNV I719V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 151840 chr1 60520950 60520950 C T C1orf87 Nonsynonymous SNV E90K 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.617 151841 chr10 105651940 105651940 T C rs201076579 STN1 Nonsynonymous SNV Q275R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.985 151842 chr10 105926358 105926358 T C CFAP43 Nonsynonymous SNV N976S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 151843 chr9 35818968 35818968 C A FAM221B Nonsynonymous SNV A364S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29 151844 chr10 11060083 11060083 C T rs375248006 CELF2 Nonsynonymous SNV P11S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 151845 chr9 36108160 36108160 A T rs112938194 RECK Nonsynonymous SNV K588N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.6 151846 chr12 6437113 6437113 G A rs143337827 PLEKHG6 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 151847 chr9 38423992 38423992 G C rs372612635 IGFBPL1 Nonsynonymous SNV H144D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 151848 chr5 666181 666181 G A rs752217448 TPPP Synonymous SNV L123L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.863 151849 chr11 26584681 26584681 C A rs770056532 MUC15 Nonsynonymous SNV D276Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 151850 chr9 5772625 5772625 C T rs138589800 RIC1 Synonymous SNV G1189G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.14 151851 chr9 426926 426926 A T rs150057289 DOCK8 Nonsynonymous SNV N1328I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 151852 chr11 108106486 108106486 T A ATM Nonsynonymous SNV C141S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.73 151853 chr9 5054748 5054748 C T JAK2 Nonsynonymous SNV T118I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 151854 chr11 10820932 10820932 G A rs771946668 EIF4G2 Synonymous SNV S750S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 151855 chr11 1097749 1097749 A C rs41386154 MUC2 Nonsynonymous SNV N2281T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.019 151856 chr9 7103702 7103702 A C rs370787711 KDM4C Nonsynonymous SNV R559S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.3 151857 chr11 32112781 32112781 C G rs929956167 RCN1 Synonymous SNV A13A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 151858 chr9 74327120 74327120 C T rs144764453 CEMIP2 Nonsynonymous SNV S820N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 24.8 151859 chr9 740882 740882 G A rs780088270 KANK1 Nonsynonymous SNV R959Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.15 151860 chr5 78379508 78379508 A G rs201662010 BHMT2 Nonsynonymous SNV Y216C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 151861 chr11 55111413 55111413 C T rs74668728 OR4A16 Nonsynonymous SNV A246V 0.012 0.013 0 5 14 5 0.013 0 0 0 0 0 0.034 151862 chr9 79322921 79322921 G T rs41288771 PRUNE2 Nonsynonymous SNV N1423K 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 7.331 151863 chr11 55111418 55111418 G T rs141537673 OR4A16 Nonsynonymous SNV V248F 0.012 0.013 0 5 14 5 0.013 0 0 0 0 0 2.495 151864 chr10 121432114 121432114 G A rs147259596 BAG3 Synonymous SNV T285T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.69 151865 chr11 55111438 55111438 T C rs189929394 OR4A16 Synonymous SNV F254F 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 0.836 151866 chr11 55111453 55111453 C T rs79231280 OR4A16 Synonymous SNV P259P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 12.28 151867 chr11 55111496 55111496 T A rs75584132 OR4A16 Nonsynonymous SNV S274T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.007 151868 chr10 121609069 121609069 T C rs769097057 MCMBP Synonymous SNV Q198Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.685 151869 chr10 121652442 121652442 C T rs141132251 SEC23IP Synonymous SNV L50L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.554 151870 chr1 197564461 197564461 G T DENND1B Synonymous SNV V308V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.99 151871 chr1 198498283 198498283 C T ATP6V1G3 Nonsynonymous SNV G53R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.08 151872 chr11 115080365 115080365 G A rs141892754 CADM1 Nonsynonymous SNV T336I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 13.82 151873 chr1 200587764 200587764 G A rs936413897 KIF14 Nonsynonymous SNV L30F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.22 151874 chr11 5529238 5529238 G T rs149894575 UBQLN3 Nonsynonymous SNV N517K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 151875 chr9 90301641 90301641 C T rs775597816 DAPK1 Synonymous SNV N800N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 14.96 151876 chr10 124598699 124598699 G A rs141440856 CUZD1 Synonymous SNV D94D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.177 151877 chr5 89979568 89979568 G A rs41302834 ADGRV1 Nonsynonymous SNV D1944N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25 151878 chr9 8499763 8499763 C T rs745717615 PTPRD Nonsynonymous SNV V736M 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 151879 chr11 118081425 118081425 G A rs76639053 JAML Synonymous SNV D28D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.5 151880 chr11 45931856 45931856 G A rs370792374 PEX16 Synonymous SNV L320L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 22 151881 chr11 118770632 118770632 C T rs200598369 BCL9L Nonsynonymous SNV G1134R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.09 151882 chr10 127734633 127734633 G A rs545703654 ADAM12 Synonymous SNV H662H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.163 151883 chr9 91616355 91616355 C T rs138547551 S1PR3 Synonymous SNV N80N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11 151884 chr10 12833212 12833212 C T rs56144628 CAMK1D Synonymous SNV I207I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 18.65 151885 chr9 91978764 91978764 G A rs200510870 SEMA4D Nonsynonymous SNV L662F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.5 151886 chr5 95194617 95194617 C G rs139590962 LINC01554 0 0 0.007 0 0 0 0 2 0 0 0 0 8.391 151887 chr9 95237155 95237155 A G rs186840940 ASPN Nonsynonymous SNV F9L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.066 151888 chr9 97844971 97844971 C G rs769454549 AOPEP Nonsynonymous SNV Q713E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 151889 chr11 120097543 120097543 C T rs200957652 OAF Nonsynonymous SNV R129W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 151890 chrX 10085602 10085602 A C rs56130457 WWC3 Synonymous SNV A501A 0.004 0.013 0.01 1 5 5 0.003 3 1 2 0 0 0.001 151891 chr9 99003080 99003080 A G HSD17B3 Nonsynonymous SNV I261T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.859 151892 chr1 102269939 102269939 T C rs201625717 OLFM3 Nonsynonymous SNV D431G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 24.3 151893 chr10 134014421 134014421 C T rs537162289 DPYSL4 Synonymous SNV F348F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 151894 chrX 10092331 10092331 A G rs36076296 WWC3 Nonsynonymous SNV Y593C 0.004 0.016 0 3 5 6 0.008 0 0 2 0 1 0.008 151895 chrX 10093115 10093115 C G rs989071358 WWC3 Nonsynonymous SNV N626K 0.001 0 0 2 1 0 0.005 0 0 0 0 1 22.7 151896 chr6 108489259 108489259 A C rs573906530 NR2E1 Nonsynonymous SNV E10A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.17 151897 chr12 9760363 9760363 A T rs779033858 KLRB1 Nonsynonymous SNV S25T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 151898 chr1 109824503 109824503 G A rs116496512 PSRC1 Nonsynonymous SNV A86V 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 16.82 151899 chrX 11682817 11682817 G A rs752946173 ARHGAP6 Synonymous SNV G44G 0.001 0 0 2 1 0 0.005 0 0 0 0 1 14.65 151900 chr11 5602604 5602604 C T rs190023923 OR52B6 Synonymous SNV A166A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.58 151901 chr11 56057681 56057681 T A rs371818399 OR8H1 Synonymous SNV P286P 0.003 0 0 0 4 0 0 0 0 0 0 0 6.938 151902 chr11 56058403 56058403 T G rs148083308 OR8H1 Nonsynonymous SNV I46L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.98 151903 chr13 103280271 103280271 C T TPP2 Nonsynonymous SNV S338F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.2 151904 chrX 131803196 131803196 C T rs187567949 HS6ST2 Nonsynonymous SNV A338T 0.006 0.008 0.003 0 7 3 0 1 1 0 0 0 22 151905 chrX 135055825 135055825 A T MMGT1 Nonsynonymous SNV S4T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.07 151906 chr1 113093269 113093269 G A rs201770031 ST7L Synonymous SNV Y298Y 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 5.645 151907 chr10 13672339 13672339 G A rs142271147 PRPF18 Synonymous SNV X343X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.38 151908 chrX 144906162 144906162 C T rs202198664 SLITRK2 Nonsynonymous SNV T740I 0.009 0.005 0 3 10 2 0.008 0 3 1 0 1 5.759 151909 chr11 125764002 125764002 G A rs150859450 PUS3 Nonsynonymous SNV P167L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.529 151910 chr1 117560831 117560831 A G rs145387761 CD101 Nonsynonymous SNV N556D 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.002 151911 chr13 114175005 114175005 G A TMCO3 Nonsynonymous SNV V370I 0.002 0.008 0 0 2 3 0 0 0 0 0 0 2.588 151912 chr13 114526506 114526506 C T GAS6 Nonsynonymous SNV V499I 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 3.676 151913 chr13 20224319 20224319 G A rs147594834 MPHOSPH8 Nonsynonymous SNV E499K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.3 151914 chr6 138725675 138725675 G A rs887255608 HEBP2 Nonsynonymous SNV A15T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.46 151915 chrX 153689777 153689777 G A rs34328761 PLXNA3 Synonymous SNV P311P 0.005 0.005 0 2 6 2 0.005 0 2 1 0 0 Benign 0.492 151916 chr1 150198986 150198986 C G ANP32E Nonsynonymous SNV G171A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.7 151917 chrX 22291449 22291449 G A CBLL2 Nonsynonymous SNV C114Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 151918 chr11 1463756 1463756 C T rs201565203 BRSK2 Synonymous SNV D150D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.2 151919 chr11 55595438 55595438 C G OR5L2 Nonsynonymous SNV I248M 0.004 0 0 0 5 0 0 0 0 0 0 0 14.48 151920 chr6 151671747 151671747 A C rs146088180 AKAP12 Nonsynonymous SNV S636R 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 21.6 151921 chr13 29600272 29600272 C G rs200464295 MTUS2 Nonsynonymous SNV N479K 0.004 0 0 5 5 0 0.013 0 0 0 0 0 3.926 151922 chr11 57466815 57466815 C A ZDHHC5 Nonsynonymous SNV S636Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 151923 chr1 229685034 229685034 A T ABCB10 Nonsynonymous SNV F222Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 151924 chr11 56086396 56086396 T C rs142037369 OR8K3 Nonsynonymous SNV I205T 0.005 0 0 0 6 0 0 0 0 0 0 0 3.052 151925 chr1 230391063 230391063 C T rs376128700 GALNT2 Nonsynonymous SNV P332L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 151926 chr1 231829813 231829813 A G rs764032506 DISC1 Synonymous SNV A103A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.923 151927 chrX 54950916 54950916 C T TRO Synonymous SNV G26G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.21 151928 chr1 153941567 153941567 C G rs45600231 CREB3L4 Synonymous SNV L112L 0.005 0.008 0.003 3 6 3 0.008 1 0 0 0 0 8.76 151929 chrX 7023730 7023730 T C rs186569890 PUDP Nonsynonymous SNV K71E 0 0 0.007 2 0 0 0.005 2 0 0 1 1 11.47 151930 chrX 68725179 68725181 CTG - rs766234827 FAM155B C24del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 151931 chr13 43362906 43362906 C T rs35889214 FAM216B Nonsynonymous SNV R134C 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 8.427 151932 chr1 154920796 154920796 G A rs565790485 PBXIP1 Synonymous SNV T123T 0.005 0.003 0 0 6 1 0 0 1 0 0 0 11.57 151933 chr10 4881946 4881946 A - rs548108585 AKR1E2 Q203Rfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 151934 chr10 49968432 49968432 G A rs183019587 WDFY4 Nonsynonymous SNV V834M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 151935 chr1 155408600 155408600 T C rs145984528 ASH1L Synonymous SNV L1782L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.119 151936 chr11 59406823 59406823 G A rs201608276 PATL1 Nonsynonymous SNV R695C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 151937 chrX 83129463 83129463 T C CYLC1 Nonsynonymous SNV S583P 0 0.005 0 2 0 2 0.005 0 0 1 0 1 15.48 151938 chr13 46658434 46658434 T G rs200389755 CPB2 Nonsynonymous SNV K65N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 151939 chr11 6048216 6048216 G A rs139301829 OR56A1 Nonsynonymous SNV A240V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.8 151940 chr10 50966610 50966610 C A rs144796503 OGDHL Nonsynonymous SNV R10L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14 151941 chr10 100182171 100182171 C T rs148450315 HPS1 Synonymous SNV S446S 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 Benign 16 151942 chr1 247267421 247267421 T C ZNF669 Synonymous SNV P27P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.036 151943 chr6 168431481 168431481 G A rs34049091 KIF25 Nonsynonymous SNV A41T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 4.474 151944 chr1 247836116 247836116 C T rs371166459 OR13G1 Synonymous SNV P76P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.5 151945 chr6 20144519 20144519 A G MBOAT1 Synonymous SNV Y117Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.219 151946 chr10 104243965 104243965 G A rs139352904 ACTR1A Synonymous SNV Y203Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.64 151947 chr14 100118893 100118893 C T rs760656932 HHIPL1 Synonymous SNV P196P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.29 151948 chr11 62362755 62362755 G A MTA2 Synonymous SNV A315A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.676 151949 chr6 2624075 2624075 C T rs143237740 LINC01600 0 0 0.003 0 0 0 0 1 0 0 0 0 6.566 151950 chr1 6111721 6111721 C T rs202153711 KCNAB2 Nonsynonymous SNV A42V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 20.7 151951 chr14 103478523 103478523 T C rs775126793 CDC42BPB Nonsynonymous SNV K60E 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.2 151952 chr6 26505268 26505268 G A rs149886741 BTN1A1 Synonymous SNV K181K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.522 151953 chr10 72462171 72462171 G A rs141259412 ADAMTS14 Nonsynonymous SNV R209Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 151954 chr10 75871826 75871826 G A rs199751261 VCL Nonsynonymous SNV A969T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 151955 chr14 105916636 105916636 C T rs142637068 MTA1 Nonsynonymous SNV S136L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 151956 chr11 60640719 60640719 G A rs201448445 ZP1 Nonsynonymous SNV M399I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.73 151957 chr6 33653458 33653458 C T rs149206085 ITPR3 Nonsynonymous SNV R1841C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 151958 chr10 123659447 123659447 - TA ATE1 Frameshift insertion Q178Tfs*64 0.001 0 0 0 1 0 0 0 0 0 0 0 151959 chr10 124336116 124336116 G A rs200664624 DMBT1 Nonsynonymous SNV G162E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 151960 chr10 124345753 124345753 A G rs200713568 DMBT1 Nonsynonymous SNV N536S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 151961 chr6 36290128 36290128 C T rs570127153 BNIP5 Synonymous SNV T521T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 151962 chr10 125506394 125506394 G C rs148889875 CPXM2 Nonsynonymous SNV S719R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 151963 chr14 21862135 21862135 T C rs758143375 CHD8 Nonsynonymous SNV H1940R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.2 151964 chr11 66190191 66190191 C G rs146312650 NPAS4 Synonymous SNV R159R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.68 151965 chr10 127843804 127843804 T C rs367875671 ADAM12 Nonsynonymous SNV N111D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 151966 chr11 6652627 6652627 G A rs200997946 DCHS1 Synonymous SNV R1229R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 7.644 151967 chr11 6654847 6654847 G A rs759188370 DCHS1 Nonsynonymous SNV R751W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 31 151968 chr11 67067343 67067343 A G rs150594878 ANKRD13D Nonsynonymous SNV H309R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.6 151969 chr2 25611102 25611102 G A rs200383554 DTNB Synonymous SNV V357V 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 Benign 12.93 151970 chr6 41566598 41566598 C T FOXP4 Nonsynonymous SNV A656V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 151971 chr1 185089160 185089160 T A TRMT1L Nonsynonymous SNV R575S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23 151972 chr11 68527693 68527693 C T rs150792109 CPT1A Synonymous SNV P714P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 151973 chr6 44233372 44233372 G A rs189481001 NFKBIE Synonymous SNV G43G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 151974 chr1 201013535 201013535 G A rs183195890 CACNA1S Nonsynonymous SNV T1573M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 151975 chr14 24780346 24780346 A G rs771073522 LTB4R2 Nonsynonymous SNV Y159C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 151976 chr11 64603974 64603974 G T CDC42BPG Synonymous SNV S471S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.077 151977 chr10 98133487 98133487 A G TLL2 Nonsynonymous SNV L843P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 151978 chr11 702954 702954 G A rs748444751 TMEM80 Nonsynonymous SNV G152D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 151979 chr10 98469537 98469537 C A rs146527410 PIK3AP1 Nonsynonymous SNV A73S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 9.127 151980 chr10 98794263 98794263 A G rs79922298 SLIT1 Synonymous SNV N801N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 5.629 151981 chr11 7063954 7063954 A T rs147189259 NLRP14 Nonsynonymous SNV I233L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 15.15 151982 chr10 99236652 99236652 G A rs143513996 MMS19 Nonsynonymous SNV R30C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 151983 chr11 720076 720076 C A rs774160453 EPS8L2 Nonsynonymous SNV F60L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 151984 chr10 15103800 15103800 G A rs747645919 OLAH Nonsynonymous SNV E81K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 151985 chr11 72539526 72539526 G A rs775912740 ATG16L2 Nonsynonymous SNV R426H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.5 151986 chr11 73007871 73007871 G A rs146746862 P2RY6 Nonsynonymous SNV R204H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.3 151987 chr1 202933779 202933779 G T rs2232845 CYB5R1 Synonymous SNV R174R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.03 151988 chr14 37838786 37838786 T G rs139003723 MIPOL1 Nonsynonymous SNV M298R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.99 151989 chr11 72469575 72469575 G A rs375840359 STARD10 Synonymous SNV P153P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.79 151990 chr11 74022613 74022613 G A rs571764703 P4HA3 Nonsynonymous SNV A15V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 151991 chr1 203186879 203186879 G A rs150852382 CHIT1 Nonsynonymous SNV R363W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 151992 chr11 65655105 65655105 T G rs758947672 FIBP Nonsynonymous SNV K126T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 151993 chr2 38829682 38829682 C T rs13028141 HNRNPLL Synonymous SNV E29E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.03 151994 chr14 50301119 50301119 G A rs748744439 NEMF Nonsynonymous SNV S208L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 151995 chr1 25573406 25573406 C T rs145184206 RSRP1 Nonsynonymous SNV D17N 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 12.13 151996 chr2 48027214 48027214 C G rs63750832 MSH6 Nonsynonymous SNV Q568E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.94 151997 chr1 26629532 26629532 A G rs189580399 UBXN11 0.003 0 0 4 3 0 0.01 0 0 0 0 0 4.378 151998 chr11 77884726 77884726 C A rs147630167 KCTD21-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 0.026 151999 chr11 67057652 67057652 A C rs377091252 ANKRD13D Nonsynonymous SNV N65T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 152000 chr1 26671658 26671658 G A rs111981367 CRYBG2 Synonymous SNV V497V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.029 152001 chr1 207647647 207647647 A G rs760232869 CR2 Nonsynonymous SNV K709E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.733 152002 chr14 56763406 56763406 T C rs146102418 PELI2 Nonsynonymous SNV F262S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.166 152003 chr1 27994810 27994810 C T rs35060183 IFI6 Synonymous SNV L75L 0.005 0.005 0.003 7 6 2 0.018 1 0 0 0 0 15.37 152004 chr10 32856798 32856798 - A rs571580284 CCDC7 Frameshift insertion I468Nfs*16 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 152005 chr1 31769573 31769573 C A rs200658041 SNRNP40 Nonsynonymous SNV G9V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 152006 chr11 69462836 69462836 C T rs137904082 CCND1 Synonymous SNV L217L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 15.41 152007 chr1 33237770 33237770 G A KIAA1522 Nonsynonymous SNV R938Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 152008 chr10 46122474 46122474 T C rs762838459 ZFAND4 Nonsynonymous SNV H266R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 152009 chr2 73118535 73118535 C T rs779204655 SPR Stop gain R219X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 36 152010 chr1 38512308 38512308 - GCCGCC POU3F1 A37_E38insAA 0.003 0 0 1 3 0 0.003 0 0 0 0 0 152011 chr1 39361681 39361681 A C rs111906633 RHBDL2 Nonsynonymous SNV V270G 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 152012 chr2 80646623 80646623 A G rs144724508 CTNNA2 Nonsynonymous SNV N75S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.73 152013 chr11 94320265 94320265 A C rs142289424 PIWIL4 Nonsynonymous SNV K256Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 1.456 152014 chr11 9445358 9445358 G C rs747680795 IPO7 Nonsynonymous SNV C359S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.31 152015 chr11 94924737 94924737 C T rs560474158 SESN3 Nonsynonymous SNV R58H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.3 152016 chr10 49998905 49998905 G A rs367979242 WDFY4 Synonymous SNV S1400S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.67 152017 chr2 85787963 85787963 G A rs41290035 GGCX Synonymous SNV S63S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Likely benign 13.45 152018 chr2 88478341 88478341 C A rs34136143 THNSL2 Nonsynonymous SNV T46N 0.009 0.003 0.014 4 10 1 0.01 4 0 0 0 0 8.97 152019 chr12 10034201 10034201 A G KLRF2 Nonsynonymous SNV N3D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.531 152020 chr10 50732137 50732137 G A rs200818896 ERCC6 Nonsynonymous SNV R447W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 152021 chr12 101767222 101767222 G A rs1032802610 UTP20 Nonsynonymous SNV A2308T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 152022 chr11 56468491 56468491 G A rs373762637 OR9G1, OR9G9 Nonsynonymous SNV A210T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.05 152023 chr2 98273968 98273968 G A rs768897105 ACTR1B Synonymous SNV F310F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.33 152024 chr12 105464356 105464356 A G rs558638255 ALDH1L2 Synonymous SNV A140A 0.005 0.005 0 0 6 2 0 0 0 0 0 0 0.693 152025 chr11 57373565 57373565 C T rs146449093 SERPING1 Synonymous SNV D256D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.02 152026 chr14 91755603 91755603 G A rs146028766 CCDC88C Synonymous SNV T1429T 0.003 0.003 0.014 4 4 1 0.01 4 0 0 0 0 Benign 10.71 152027 chr2 109104250 109104250 T C rs772479263 GCC2 Synonymous SNV A1342A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.606 152028 chr11 58126176 58126176 C T rs777920162 OR5B17 Nonsynonymous SNV A123T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 152029 chr2 110901179 110901179 C T rs149887461 NPHP1 Nonsynonymous SNV R427K 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.35 152030 chr1 233134064 233134064 G A rs759454816 PCNX2 Synonymous SNV S1908S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 8.505 152031 chr12 110224547 110224547 C T rs138986228 TRPV4 Synonymous SNV S661S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 9.226 152032 chr11 120827624 120827624 C A rs772049728 GRIK4 Synonymous SNV A612A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 152033 chr2 113322052 113322052 C T rs373513321 POLR1B Synonymous SNV I363I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.85 152034 chr12 111291255 111291255 C G rs774363534 CCDC63 Nonsynonymous SNV S19W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 152035 chr11 93471573 93471573 C T rs145280004 TAF1D Nonsynonymous SNV R54H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.027 152036 chr11 94126755 94126755 G C rs375569079 GPR83 Nonsynonymous SNV I139M 0.002 0 0 0 2 0 0 0 0 0 0 0 6.176 152037 chr11 9444666 9444666 G A rs140329380 IPO7 Synonymous SNV K340K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.98 152038 chr7 100684281 100684281 T C rs755957951 MUC17 Nonsynonymous SNV V3195A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 152039 chr12 113758869 113758869 T A rs574975162 SLC8B1 Synonymous SNV A118A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.204 152040 chr2 128324358 128324358 C T rs117561134 MYO7B Synonymous SNV Y142Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.743 152041 chr11 6023998 6023998 C T rs760513762 OR56A4 Synonymous SNV V75V 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 3.431 152042 chr11 6048614 6048614 C T OR56A1 Synonymous SNV Q107Q 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.357 152043 chr2 133547645 133547645 G A NCKAP5 Nonsynonymous SNV S348F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 152044 chr11 61252830 61252830 G A rs200543960 PPP1R32 Synonymous SNV S177S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.897 152045 chr12 105540875 105540875 A G rs187432521 WASHC4 Nonsynonymous SNV H823R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 26.9 152046 chr11 1255846 1255846 C T MUC5B Nonsynonymous SNV P856S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 152047 chr7 127973408 127973408 C T rs61733109 RBM28 Nonsynonymous SNV V178I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.39 152048 chr12 123214506 123214506 G A rs752376799 HCAR1 Synonymous SNV I127I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.016 152049 chr10 86131808 86131808 A G rs200588575 CCSER2 Nonsynonymous SNV M334V 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 1.247 152050 chr11 62459926 62459926 G A rs140896339 BSCL2 Nonsynonymous SNV A262V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.82 152051 chr12 123463031 123463031 T C rs369701433 OGFOD2 Nonsynonymous SNV F149S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 152052 chr2 152544196 152544196 T C rs766277631 NEB Nonsynonymous SNV K823E 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.2 152053 chr7 128767157 128767157 C T rs61740498 LOC407835 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 152054 chr2 157439382 157439382 C T rs144944634 GPD2 Synonymous SNV L712L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 17.87 152055 chr10 89503141 89503141 G A rs762065359 PAPSS2 Nonsynonymous SNV A407T 0.002 0 0 0 2 0 0 0 0 0 0 0 33 152056 chr7 129122703 129122703 G A rs181546167 STRIP2 Synonymous SNV S690S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 152057 chr7 129662352 129662352 C T rs77376783 ZC3HC1 Nonsynonymous SNV R345Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 152058 chr1 77334368 77334368 C T rs756095581 ST6GALNAC5 Nonsynonymous SNV P68S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 152059 chr2 158958632 158958632 T C rs138769279 UPP2 Synonymous SNV Y19Y 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.002 152060 chr1 78163609 78163609 T C rs201831491 USP33 Synonymous SNV P839P 0 0 0 2 0 0 0.005 0 0 0 0 0 8.732 152061 chr11 129758562 129758562 G T rs888128345 NFRKB Synonymous SNV L101L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.227 152062 chr12 12317406 12317406 A C LRP6 Nonsynonymous SNV F618C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 152063 chr12 125460012 125460012 G A rs1005726149 DHX37 Synonymous SNV A311A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.84 152064 chr12 125509904 125509904 G A rs148304039 BRI3BP Synonymous SNV E228E 0.003 0 0 4 4 0 0.01 0 0 0 0 0 8.071 152065 chr11 134022853 134022853 T A rs370256378 NCAPD3 Stop gain K1495X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 41 152066 chr11 134022854 134022854 C A rs374973665 NCAPD3 Synonymous SNV L1494L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.53 152067 chr7 134719373 134719373 C A rs141725502 AGBL3 Nonsynonymous SNV T344N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.79 152068 chr10 93812116 93812116 C T rs147464061 CPEB3 Synonymous SNV P636P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.803 152069 chr12 1250806 1250806 T A ERC1 Synonymous SNV R530R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.565 152070 chr15 42019555 42019555 T C rs752846487 MGA Nonsynonymous SNV L1203P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.05 152071 chr11 16760339 16760339 G A rs146011841 C11orf58 Nonsynonymous SNV R5K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 152072 chr15 42058958 42058958 A C rs199779997 MGA Nonsynonymous SNV E2684A 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 Likely benign 8.706 152073 chr1 87031503 87031503 - A rs781062541 CLCA4 Frameshift insertion T254Nfs*3 0 0 0 3 0 0 0.008 0 0 0 0 0 152074 chr2 169728042 169728042 C G rs146133605 SPC25 Nonsynonymous SNV E192Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23 152075 chr12 133764464 133764464 C T rs200829573 ZNF268 Nonsynonymous SNV P14S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 152076 chr12 14577376 14577405 CTGGTGATGCCCCTTCTGGTGATGTGTCCC - rs564557542 ATF7IP P180_A189del 0.005 0 0.003 0 6 0 0 1 0 0 0 0 152077 chr15 45386810 45386810 C T rs144543420 DUOX2 Nonsynonymous SNV R1492H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 35 152078 chr2 171243804 171243804 T G MYO3B Synonymous SNV V521V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.487 152079 chr2 171243806 171243806 T G MYO3B Nonsynonymous SNV I522R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.8 152080 chr11 6588882 6588882 G A rs2288284 DNHD1 Nonsynonymous SNV R4048Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 152081 chr2 173883490 173883490 C T rs150552209 RAPGEF4 Synonymous SNV S485S 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 Benign 12.05 152082 chr12 122248114 122248114 G A rs61734114 SETD1B Synonymous SNV G421G 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 0.012 152083 chr12 2016716 2016716 A G CACNA2D4 Nonsynonymous SNV V224A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 152084 chr12 122255791 122255791 C T rs371213953 SETD1B Synonymous SNV D1133D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.45 152085 chr15 48707780 48707780 G A rs371285755 FBN1 Synonymous SNV G2668G 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Likely benign 13.16 152086 chr2 25462047 25462049 GCT - DNMT3A A636del 0 0.003 0 0 0 1 0 0 0 0 0 0 152087 chr2 25462052 25462065 CACTTCTTTGGCAT - DNMT3A D629Vfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 152088 chr1 109261541 109261541 G T FNDC7 Nonsynonymous SNV W156C 0 0 0 3 0 0 0.008 0 0 0 0 0 25.2 152089 chr11 67267725 67267725 G A PITPNM1 Nonsynonymous SNV P270S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.225 152090 chr12 26217766 26217766 A G rs148235652 RASSF8 Nonsynonymous SNV K147E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.81 152091 chr7 151504020 151504020 C G rs141345809 LOC644090 Synonymous SNV L13L 0 0 0.024 0 0 0 0 7 0 0 0 0 2.59 152092 chr7 154860732 154860732 C T HTR5A-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.878 152093 chr12 28515391 28515391 G A rs766062156 CCDC91 Synonymous SNV L37L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.6 152094 chr7 156685637 156685637 T G LMBR1 Nonsynonymous SNV Q17H 0 0 0.007 0 0 0 0 2 0 0 0 0 16.09 152095 chr12 132394355 132394355 G A rs140317597 ULK1 Synonymous SNV E234E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.18 152096 chr7 158621930 158621930 G A rs752458005 ESYT2 Synonymous SNV F60F 0 0 0.007 0 0 0 0 2 0 0 0 0 13.12 152097 chr7 1590487 1590487 G C TMEM184A Stop gain Y117X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 152098 chr1 115231182 115231182 C G AMPD1 Nonsynonymous SNV R101T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.3 152099 chr15 65394623 65394623 G A UBAP1L Nonsynonymous SNV L174F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 152100 chr1 117061887 117061887 T C rs149627900 CD58 Nonsynonymous SNV I237V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 152101 chr11 74952429 74952429 G A TPBGL Nonsynonymous SNV G112D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.3 152102 chr12 46246611 46246611 G A rs78712333 ARID2 Nonsynonymous SNV A1569T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 26.5 152103 chr15 67664931 67664931 G A IQCH Synonymous SNV K160K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.056 152104 chr1 120377392 120377392 T C rs908212926 NBPF7 Nonsynonymous SNV D421G 0 0 0 3 0 0 0.008 0 0 0 0 0 3.314 152105 chr7 26576384 26576384 G A rs115419651 KIAA0087 0 0 0.003 0 0 0 0 1 0 0 0 0 2.74 152106 chr12 2102455 2102455 A C rs150415068 DCP1B Synonymous SNV P98P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.007 152107 chr11 46918491 46918491 C T rs369307795 LRP4 Nonsynonymous SNV R284H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 152108 chr7 26578003 26578003 A T rs140955582 LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 1.874 152109 chr7 26578148 26578148 G T rs140673531 KIAA0087, LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 152110 chr2 43927253 43927253 C T rs148152893 PLEKHH2 Synonymous SNV L386L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.6 152111 chr2 198436795 198436795 G A rs140450695 RFTN2 Synonymous SNV L481L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 11.53 152112 chr11 76916585 76916585 C T rs373612656 MYO7A Synonymous SNV H1853H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 15.98 152113 chr11 107535848 107535848 C T ELMOD1 Synonymous SNV I302I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.108 152114 chr11 47371447 47371447 C T rs727503218 MYBPC3 Nonsynonymous SNV V178M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 152115 chr11 108032008 108032008 G A rs774211463 NPAT Nonsynonymous SNV R1276W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 152116 chr15 72500966 72500966 G A rs751929272 PKM Nonsynonymous SNV R204W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.2 152117 chr15 72523320 72523320 C T rs8192351 PKM Stop gain W3X 0.002 0.008 0 0 2 3 0 0 0 0 0 0 8.655 152118 chr2 45169463 45169463 C T rs747721596 SIX3 Nonsynonymous SNV P74S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 19.27 152119 chr2 202074252 202074252 C G CASP10 Nonsynonymous SNV S394C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 152120 chr12 21971087 21971087 A G rs150303433 ABCC9 Synonymous SNV L1256L 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.682 152121 chr2 47222306 47222306 G A TTC7A Nonsynonymous SNV A345T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 152122 chr11 77917013 77917013 T G rs147838203 USP35 Nonsynonymous SNV I441M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 22.2 152123 chr11 47834938 47834938 G C NUP160 Synonymous SNV S572S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.574 152124 chr12 49415578 49415578 C T rs199798179 KMT2D Synonymous SNV R5533R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 10.21 152125 chr2 202900597 202900597 G A rs143927979 FZD7 Synonymous SNV G409G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 4.397 152126 chr2 203499949 203499949 G A rs193178985 FAM117B Synonymous SNV P13P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.77 152127 chr12 49372528 49372528 G A WNT1 Nonsynonymous SNV G32D 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 152128 chr15 75044578 75044578 A T rs72547516 CYP1A2 Nonsynonymous SNV I386F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.3 152129 chr12 27813861 27813861 G T PPFIBP1 Nonsynonymous SNV A164S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 152130 chr1 151509715 151509715 C T CGN Nonsynonymous SNV L1169F 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 152131 chr2 61541743 61541743 T A rs190872867 USP34 Synonymous SNV T1173T 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 8.86 152132 chr2 62069482 62069482 G A rs145199539 FAM161A Nonsynonymous SNV T66I 0.009 0.005 0.007 3 11 2 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 152133 chr2 70377547 70377547 G A rs760598084 C2orf42 Nonsynonymous SNV R556W 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.2 152134 chr2 211473157 211473157 C A rs41272667 CPS1 Synonymous SNV S755S 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 10.72 152135 chr7 44259739 44259739 G A rs56347500 CAMK2B Synonymous SNV R424R 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 11.93 152136 chr1 153920712 153920712 A C rs750733371 CRTC2 Nonsynonymous SNV L652R 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 152137 chr7 44805825 44805825 C T ZMIZ2 Nonsynonymous SNV P743S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.4 152138 chr2 71887761 71887761 G T rs142301132 DYSF Synonymous SNV T1608T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.73 152139 chr2 72359383 72359383 C T rs370070762 CYP26B1 Synonymous SNV T429T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.02 152140 chr12 459895 459895 G T rs768309721 KDM5A Nonsynonymous SNV S400R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.7 152141 chr1 155161740 155161799 GGTGGAGCCCGGGGCTGGCTTGTTGTCCGGGGCTGAGGTGACATCGTGGGCTGGCGGGGT - MUC1 T112_T131del 0 0 0 2 0 0 0.005 0 0 0 0 0 152142 chr1 155447846 155447846 G A rs778370924 ASH1L Synonymous SNV N1605N 0 0 0 2 0 0 0.005 0 0 0 0 0 4.122 152143 chr1 155449583 155449583 A G ASH1L Synonymous SNV A1026A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.717 152144 chr11 120998774 120998774 C T rs368288093 TECTA Synonymous SNV C696C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 12.35 152145 chr2 220082446 220082446 G C rs200655155 ABCB6 Synonymous SNV P211P 0.003 0 0 3 4 0 0.008 0 0 0 0 0 4.362 152146 chr2 220361552 220361552 G A SPEGNB Synonymous SNV E50E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.16 152147 chr7 6194257 6194257 C T USP42 Synonymous SNV H1024H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.565 152148 chr12 104698525 104698525 A G rs199802893 EID3 Synonymous SNV A271A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.08 152149 chr12 55357027 55357027 C T TESPA1 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.5 152150 chr1 158517490 158517490 G A rs764004377 OR6Y1 Nonsynonymous SNV R136C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 152151 chr12 56814430 56814430 T C rs149631095 TIMELESS Nonsynonymous SNV N1050D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.6 152152 chr12 107168520 107168520 G A LOC100287944 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 152153 chr2 98737919 98737919 A C rs754816213 VWA3B Nonsynonymous SNV T234P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.321 152154 chr11 55406609 55406609 C T rs753984758 OR4P4 Nonsynonymous SNV P259L 0.002 0 0 0 2 0 0 0 1 0 0 0 26.8 152155 chr1 158736301 158736301 G T rs376841145 OR6N1 Nonsynonymous SNV P58T 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 152156 chr11 125831576 125831576 T A rs377706219 CDON Nonsynonymous SNV Q1225L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 152157 chr12 109958961 109958961 C T rs149472470 UBE3B Synonymous SNV Y695Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.1 152158 chr7 80293813 80293813 - GTAA rs201245766 CD36 Stop gain N80* 0 0 0.003 0 0 0 0 1 0 0 0 0 152159 chr12 57348743 57348743 A G rs753474390 RDH16 Synonymous SNV G173G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.45 152160 chr7 80418686 80418686 T C rs145331480 SEMA3C Synonymous SNV T448T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.693 152161 chr11 126306883 126306883 C T rs768194191 KIRREL3 Nonsynonymous SNV V459I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 152162 chr2 233390970 233390970 G A rs138609765 CHRND Synonymous SNV A15A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.97 152163 chr7 83764184 83764184 G A rs199979628 SEMA3A Nonsynonymous SNV R66W 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 34 152164 chr12 111758313 111758313 C G rs750555630 CUX2 Nonsynonymous SNV P772A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.226 152165 chr12 112843703 112843703 C T rs200082909 RPL6 Nonsynonymous SNV R223Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 152166 chr12 53680102 53680102 C T rs61740151 ESPL1 Synonymous SNV A1194A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 152167 chr2 234749819 234749819 G A rs139993206 HJURP Nonsynonymous SNV P451L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.92 152168 chr12 6777269 6777269 T C rs201837928 ZNF384 Nonsynonymous SNV M333V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.2 152169 chr11 16838583 16838583 C T rs374219623 PLEKHA7 Nonsynonymous SNV G544S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 152170 chr7 97369228 97369228 G A rs147325765 TAC1 Nonsynonymous SNV R96H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 152171 chr16 16130342 16130342 G T rs201704029 ABCC1 Nonsynonymous SNV G231C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 31 152172 chr12 114793779 114793779 G A rs143068551 TBX5 Nonsynonymous SNV S322L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 152173 chr7 98889954 98889954 T A rs116972017 MYH16 0 0 0.02 0 0 0 0 6 0 0 0 0 14.68 152174 chr2 239013301 239013301 G A rs368175214 ESPNL Nonsynonymous SNV V164M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 152175 chr12 57327796 57327796 C T rs754632093 SDR9C7 Nonsynonymous SNV E84K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 152176 chr12 71972585 71972585 G A rs146110108 LGR5 Nonsynonymous SNV D404N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 25.3 152177 chr16 20809915 20809915 G C rs201880414 ERI2 Nonsynonymous SNV P403A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.12 152178 chr8 11295609 11295609 C T rs3021516 FAM167A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.201 152179 chr8 113649161 113649161 A G rs770435692 CSMD3 Synonymous SNV I1070I 0 0 0.007 0 0 0 0 2 0 0 0 0 6.541 152180 chr2 242743472 242743472 - GG rs755925041 GAL3ST2 Frameshift insertion V365Afs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 152181 chr16 2499356 2499356 G A rs751260563 CCNF Nonsynonymous SNV C123Y 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.96 152182 chr16 27078353 27078353 G A rs369685237 C16orf82 Nonsynonymous SNV E13K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.613 152183 chr12 95604233 95604233 T C rs77642937 FGD6 Nonsynonymous SNV E276G 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 1.143 152184 chr8 129162433 129162433 G A rs2648841 MIR1208 0 0 0.027 0 0 0 0 8 0 0 0 0 3.153 152185 chr11 298538 298538 A C IFITM5 Nonsynonymous SNV F121C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 152186 chr2 163256949 163256949 G T rs16846665 KCNH7 Synonymous SNV V719V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.75 152187 chr2 163291981 163291981 G A rs16846690 KCNH7 Synonymous SNV L554L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.213 152188 chr2 163360971 163360971 C T rs75128200 KCNH7 Synonymous SNV V363V 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 10.84 152189 chr8 131308122 131308122 T G rs79790211 ASAP1-IT1 0 0 0.01 0 0 0 0 3 0 0 0 0 7.459 152190 chr8 131308142 131308142 T C rs73409328 ASAP1-IT1 0 0 0.017 0 0 0 0 5 0 0 0 0 2.063 152191 chr1 201178668 201178775 GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG - IGFN1 E1556_S1591del 0 0 0 1 0 0 0.003 0 0 0 0 0 152192 chr12 7045897 7045897 - CAGCAG ATN1 Q502_H503insQQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 152193 chr12 7053019 7053019 T C rs782444004 RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.752 152194 chr12 9751127 9751127 T C rs34919993 KLRB1 Nonsynonymous SNV S128G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.96 152195 chr8 133925399 133925399 C G rs200236155 TG Nonsynonymous SNV R1423G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 14.45 152196 chr1 202702596 202702596 C T rs756875507 KDM5B Nonsynonymous SNV R1236Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.87 152197 chr12 72032211 72032211 G A rs374584470 ZFC3H1 Nonsynonymous SNV P571L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 152198 chr16 30199762 30199762 T C rs201734831 CORO1A Synonymous SNV G382G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.662 152199 chr12 72969158 72969158 G A rs200482271 TRHDE Nonsynonymous SNV R707Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23 152200 chr1 203151907 203151907 G A rs760464548 CHI3L1 Nonsynonymous SNV A180V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 152201 chr1 203678536 203678536 T C rs74402274 ATP2B4 Synonymous SNV N555N 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.018 152202 chr1 203680173 203680173 T C rs75360548 ATP2B4 Synonymous SNV N656N 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 3.46 152203 chr13 102873058 102873058 A G rs61965280 FGF14 Star tloss M1? 0.004 0.013 0 3 5 5 0.008 0 0 0 0 0 5.266 152204 chr8 142367462 142367462 C T rs372276873 GPR20 Nonsynonymous SNV V188M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.09 152205 chr1 205035640 205035640 C T rs574231253 CNTN2 Nonsynonymous SNV R630C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 29.8 152206 chr12 7864199 7864199 C T rs61753205 DPPA3 Synonymous SNV I11I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.697 152207 chr11 45931670 45931670 C T rs749581838 PEX16 Synonymous SNV S337S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 152208 chr13 111109461 111109461 - CCCCAGGCGTCCGTGGGGCTGATGCCGTGCG rs746278410 COL4A2-AS2 Frameshift insertion M204Tfs*180 0.004 0 0 3 5 0 0.008 0 1 0 0 1 152209 chr13 111109642 111109642 C T rs1008092310 COL4A2-AS2 Nonsynonymous SNV G144R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.161 152210 chr16 335577 335577 G C rs200996059 PDIA2 Nonsynonymous SNV E331D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.889 152211 chr3 32181812 32181812 C T rs375532052 GPD1L Synonymous SNV N153N 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Likely benign 11.83 152212 chr3 32859848 32859848 C G rs768760569 TRIM71 Synonymous SNV P92P 0.003 0 0 4 4 0 0.01 0 0 0 0 0 9.768 152213 chr12 250297 250297 G C IQSEC3 Nonsynonymous SNV D364H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 152214 chr12 86383257 86383257 C T rs145205649 MGAT4C Nonsynonymous SNV R23H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 35 152215 chr12 26709228 26709228 A T ITPR2 Nonsynonymous SNV S1634R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.596 152216 chr12 272669 272669 G A rs139400594 IQSEC3 Nonsynonymous SNV V562M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.74 152217 chr11 62286040 62286040 T C rs370675715 AHNAK Synonymous SNV P5283P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.289 152218 chr12 27472352 27472352 A G rs148477448 STK38L Nonsynonymous SNV I391V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.3 152219 chr11 6232799 6232799 C T rs375970911 FAM160A2 Synonymous SNV L952L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.826 152220 chr13 113963999 113963999 C G rs369272384 LAMP1 Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.583 152221 chr1 214557196 214557196 G A rs61749334 PTPN14 Nonsynonymous SNV R668C 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Likely benign 22.4 152222 chr13 21562785 21562785 C T rs369167901 LATS2 Synonymous SNV R378R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 13.49 152223 chr13 20579313 20579313 C T rs116271560 ZMYM2 Synonymous SNV D411D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.92 152224 chr11 63668334 63668334 A G MARK2 Nonsynonymous SNV K324R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 152225 chr13 23910272 23910272 G C SACS Synonymous SNV A2434A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.188 152226 chr12 40012987 40012987 A G ABCD2 Nonsynonymous SNV I144T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.98 152227 chr2 190728798 190728798 A G rs201205478 PMS1 Nonsynonymous SNV N553S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.601 152228 chr16 53653005 53653005 G C rs139974543 RPGRIP1L Nonsynonymous SNV A1103G 0.004 0.01 0.02 3 5 4 0.008 6 0 0 0 0 Benign/Likely benign 10.95 152229 chr11 63999929 63999929 C T rs199745306 DNAJC4 Nonsynonymous SNV P70S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.4 152230 chr11 64010757 64010757 C G rs373717919 FKBP2 Nonsynonymous SNV I86M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 152231 chr12 43833739 43833739 A G rs61754845 ADAMTS20 Synonymous SNV I808I 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 11.37 152232 chr16 56904542 56904542 A G rs35762591 SLC12A3 Nonsynonymous SNV Y249C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.68 152233 chr8 145730429 145730429 C T rs538093303 GPT Nonsynonymous SNV A137V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 152234 chr12 46205207 46205207 A G rs770544852 ARID2 Synonymous SNV L97L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.745 152235 chr13 28830512 28830512 C T PAN3 Nonsynonymous SNV H362Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 152236 chr11 64666124 64666124 C T rs139990915 ATG2A Nonsynonymous SNV R1544H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 152237 chr8 145770925 145770925 G C ARHGAP39 Synonymous SNV A743A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.855 152238 chr16 57832042 57832042 G C KIFC3 Synonymous SNV A38A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.616 152239 chr12 48374721 48374721 G C rs748306980 COL2A1 Nonsynonymous SNV P763A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.31 152240 chr13 31002584 31002584 G A UBE2L5 Nonsynonymous SNV V153M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.853 152241 chr2 202938393 202938393 G A KIAA2012 Nonsynonymous SNV G15S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.99 152242 chr13 31232680 31232680 - CCTCCCATCAGTAAGCCA USPL1 P500_A501insPISKPP 0.001 0 0 0 1 0 0 0 0 0 0 0 152243 chr11 498559 498559 C T RNH1 Nonsynonymous SNV S285N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 152244 chr2 204016253 204016253 T C NBEAL1 Nonsynonymous SNV L1814P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.5 152245 chr8 17794658 17794658 C A rs781302500 PCM1 Nonsynonymous SNV Q38K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 152246 chr13 32786514 32786514 T C FRY Synonymous SNV D1559D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.432 152247 chr12 49075272 49075272 C G rs918392024 KANSL2 Nonsynonymous SNV K48N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.69 152248 chr12 49087913 49087913 G C rs764560553 CCNT1 Nonsynonymous SNV H362D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 152249 chr16 67709273 67709273 G A rs552557039 GFOD2 Nonsynonymous SNV R315C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 32 152250 chr8 19819628 19819628 T G rs116403115 LPL Nonsynonymous SNV V442G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 25.6 152251 chr12 49446070 49446070 G A rs201512665 KMT2D Nonsynonymous SNV R466C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.42 152252 chr16 68405610 68405610 G A rs372399436 SMPD3 Nonsynonymous SNV R159C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.2 152253 chr2 208988970 208988970 T A CRYGD Nonsynonymous SNV S40C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 27.3 152254 chr3 48457550 48457550 C T rs772593408 PLXNB1 Synonymous SNV P1169P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.88 152255 chr11 66102372 66102372 C A rs377286544 RIN1 Nonsynonymous SNV G272C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 152256 chr8 23150851 23150851 C T rs76824703 R3HCC1 Nonsynonymous SNV T354I 0.009 0.016 0.014 4 10 6 0.01 4 0 0 0 0 28 152257 chr12 52215876 52215876 A G rs762011317 FIGNL2 Synonymous SNV L108L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.34 152258 chr13 45601999 45601999 C T rs140198634 GPALPP1 Nonsynonymous SNV P295L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.5 152259 chr11 6632443 6632443 C T rs763522406 TAF10 Nonsynonymous SNV G182S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 152260 chr1 228548226 228548226 C T rs760362346 OBSCN Nonsynonymous SNV R6545C 0 0 0 2 0 0 0.005 0 0 0 0 0 5.571 152261 chr12 52758150 52758150 C T KRT85, KRT85 Synonymous SNV K210K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.22 152262 chr1 229623359 229623359 G A rs148628311 NUP133 Nonsynonymous SNV S399F 0 0 0.003 3 0 0 0.008 1 0 0 0 0 24.8 152263 chr16 74678459 74678459 G C rs747905365 RFWD3 Nonsynonymous SNV Q45E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.3 152264 chr3 51367592 51367592 G A rs994339259 DOCK3 Synonymous SNV K1142K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.89 152265 chr16 75204210 75204210 T C ZFP1 Nonsynonymous SNV V368A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 152266 chr11 67265116 67265116 A C PITPNM1 Nonsynonymous SNV V606G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 152267 chr13 70549894 70549894 A G rs148588338 KLHL1 Synonymous SNV L180L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.462 152268 chr8 27886851 27886851 G A rs200971147 NUGGC Nonsynonymous SNV R696W 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 34 152269 chr3 52780858 52780858 T A NEK4 Synonymous SNV P434P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.677 152270 chr13 77725027 77725027 C T rs927664284 MYCBP2 Nonsynonymous SNV A2325T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.66 152271 chr13 30109987 30109987 G A rs376160148 SLC7A1 Synonymous SNV T113T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 152272 chr3 53844105 53844105 G A rs570389846 CACNA1D Nonsynonymous SNV R1967Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.26 152273 chr1 235920658 235920658 C T rs372000599 LYST Nonsynonymous SNV D2328N 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 26.5 152274 chr13 76427396 76427396 C T rs199910013 LMO7 Synonymous SNV S1184S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.31 152275 chr13 96239849 96239849 G T DZIP1 Nonsynonymous SNV A702E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.25 152276 chr13 96293911 96293911 T C DZIP1 Nonsynonymous SNV K79E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 152277 chr13 33700316 33700316 C T rs547478888 STARD13 Nonsynonymous SNV G654S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 152278 chr11 55433078 55433078 G A rs778706066 OR4C6 Nonsynonymous SNV A146T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 152279 chr12 54757284 54757284 G A rs145386200 GPR84 Nonsynonymous SNV R118C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 152280 chr11 7064085 7064085 C T rs138105610 NLRP14 Synonymous SNV C276C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.088 152281 chr13 39262672 39262672 C T rs199831729 FREM2 Synonymous SNV P397P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.35 152282 chr16 84067023 84067023 G C rs56802364 SLC38A8 Nonsynonymous SNV A147G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 152283 chr11 7111399 7111399 C T RBMXL2 Nonsynonymous SNV L350F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.133 152284 chr13 39621933 39621933 C T rs41286951 NHLRC3 Nonsynonymous SNV A238V 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 33 152285 chr1 237821276 237821276 T C rs201500134 RYR2 Nonsynonymous SNV I2721T 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 152286 chr11 71155984 71155984 C T rs147038941 DHCR7 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.66 152287 chr8 48973324 48973324 T A rs749202532 UBE2V2 Nonsynonymous SNV L125Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.32 152288 chr11 71720367 71720367 G A rs750482086 NUMA1 Synonymous SNV L1582L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.217 152289 chr8 53573817 53573817 A G rs759729157 RB1CC1 Synonymous SNV H461H 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 3.479 152290 chr14 102700085 102700085 - TT rs769431982 MOK Frameshift insertion I106Kfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 152291 chr13 45517773 45517773 T C NUFIP1 Nonsynonymous SNV E392G 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 152292 chr2 227660067 227660067 C T rs145977916 IRS1 Nonsynonymous SNV G1130S 0.01 0.013 0 3 12 5 0.008 0 0 1 0 0 2.669 152293 chr11 73022007 73022007 T C rs149735964 ARHGEF17 Nonsynonymous SNV M775T 0.003 0.003 0.003 4 4 1 0.01 1 0 0 0 0 0.358 152294 chr8 56367818 56367818 A G rs2929040 SBF1P1 0 0 0.007 0 0 0 0 2 0 0 1 0 3.611 152295 chr3 88205238 88205238 G C rs747491654 C3orf38 Nonsynonymous SNV W148S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.3 152296 chr8 60031457 60031457 G A TOX Synonymous SNV Y30Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.467 152297 chr8 61754580 61754580 T C CHD7 Nonsynonymous SNV F1607L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 152298 chr11 74915586 74915586 G A rs57141326 SLCO2B1 Synonymous SNV V553V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 3.861 152299 chr16 87365077 87365077 G A rs746832206 FBXO31 Synonymous SNV T479T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.14 152300 chr14 104643976 104643976 C T rs532018386 KIF26A Synonymous SNV T1617T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.47 152301 chr8 6699341 6699341 C T rs2951831 GS1-24F4.2 0 0 0.014 0 0 0 0 4 0 0 0 0 6.52 152302 chr16 87638018 87638018 C T rs200152122 JPH3 Synonymous SNV C185C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.065 152303 chr8 69699676 69699676 A C rs150041402 C8orf34 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 152304 chr12 58004466 58004466 C G rs761935620 ARHGEF25 Synonymous SNV P71P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.89 152305 chr13 52509075 52509075 G A rs767721448 ATP7B Synonymous SNV G1198G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 9.393 152306 chr2 233652019 233652019 G A GIGYF2 Nonsynonymous SNV R231K 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24 152307 chr3 105271004 105271004 C T rs75636202 ALCAM Synonymous SNV H508H 0.004 0 0 7 5 0 0.018 0 2 0 0 0 Benign 13.53 152308 chr13 61986543 61986543 G A PCDH20 Synonymous SNV D563D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.02 152309 chr8 87557018 87557018 A G rs368024006 CPNE3 Synonymous SNV T228T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.573 152310 chr16 88943631 88943631 G A rs375373107 CBFA2T3 Nonsynonymous SNV A486V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.659 152311 chr13 79177405 79177405 C G rs766150707 POU4F1 Nonsynonymous SNV E19D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 152312 chr13 95839003 95839003 G A rs1557070 ABCC4 Synonymous SNV Y424Y 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 8.852 152313 chr14 20852618 20852618 C T rs147687706 TEP1 Nonsynonymous SNV G983R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.6 152314 chr1 248569449 248569449 A G OR2T1 Nonsynonymous SNV M52V 0 0 0 3 0 0 0.008 0 0 0 0 0 7.36 152315 chr3 113376116 113376116 - TGC USF3 Q1478_A1479insQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 152316 chr14 20897699 20897699 G C KLHL33 Nonsynonymous SNV D337E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.911 152317 chr11 88242260 88242260 C G GRM5 Nonsynonymous SNV V1015L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 152318 chr14 100173114 100173114 C T CYP46A1 Synonymous SNV L192L 0.003 0 0 0 4 0 0 0 0 0 0 0 17.68 152319 chr9 101570116 101570116 G A rs10987768 GALNT12 Nonsynonymous SNV G46R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.618 152320 chr9 101706347 101706347 G A COL15A1 Nonsynonymous SNV A2T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 152321 chr14 21559241 21559241 G C rs45524331 ZNF219 Synonymous SNV L541L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 4.787 152322 chr2 241889783 241889783 G A rs201056750 CROCC2 Synonymous SNV K895K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.637 152323 chr11 94113653 94113653 C T rs147742063 GPR83 Nonsynonymous SNV V270I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 152324 chr11 9450150 9450150 A G rs141136906 IPO7 Nonsynonymous SNV S467G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 152325 chr2 242573233 242573233 C T rs533687391 THAP4 Synonymous SNV R113R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 16.64 152326 chr9 108370218 108370218 C T rs377417974 FKTN Stop gain R256X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 152327 chr14 23511928 23511928 G A rs188881179 PSMB11 Nonsynonymous SNV S165N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 152328 chr14 23587949 23587949 C A CEBPE Nonsynonymous SNV V118L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 14.8 152329 chr14 24040344 24040344 G A rs770555278 JPH4 Synonymous SNV L532L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 152330 chr2 18112872 18112872 C T rs113969475 KCNS3 Synonymous SNV I199I 0 0 0 3 0 0 0.008 0 0 0 0 0 12.93 152331 chr9 114173295 114173295 T C rs61742565 ECPAS Nonsynonymous SNV Q781R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 152332 chr9 115421563 115421563 C T rs377588443 KIAA1958 Synonymous SNV N455N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.52 152333 chr14 105518195 105518195 G A rs762091715 GPR132 Synonymous SNV G84G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.909 152334 chr9 117099581 117099581 T C rs779616230 AKNA Nonsynonymous SNV Y1239C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.23 152335 chr2 25497891 25497891 C T rs748092122 DNMT3A Synonymous SNV P186P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 152336 chr2 26410982 26410982 G C rs947214998 GAREM2 Synonymous SNV V827V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.927 152337 chr12 10954610 10954610 T C TAS2R7 Nonsynonymous SNV N187S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 152338 chr9 124519307 124519307 G A rs200818458 DAB2IP Synonymous SNV P2P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.52 152339 chr3 129308283 129308283 G A rs371227931 PLXND1 Nonsynonymous SNV R467C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 152340 chr14 47311217 47311217 C T rs199615743 MDGA2 Nonsynonymous SNV V930I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 152341 chr14 50094784 50094784 T C rs34352773 DNAAF2 Synonymous SNV P651P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.912 152342 chr14 47566145 47566145 G A rs200459170 MDGA2 Synonymous SNV I300I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.48 152343 chr14 51095043 51095043 A G rs374047535 ATL1 Nonsynonymous SNV I472V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 9.313 152344 chr11 60511453 60511453 C T rs896699382 MS4A18 Nonsynonymous SNV R395C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.06 152345 chr11 60617773 60617773 C T rs41405150 CCDC86 Nonsynonymous SNV P353L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 152346 chr3 29910399 29910399 C T rs763252410 RBMS3 Stop gain R229X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 39 152347 chr12 113348996 113348996 A G OAS1 Nonsynonymous SNV K204E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 152348 chr3 134884908 134884908 G A rs202034365 EPHB1 Nonsynonymous SNV V562I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.4 152349 chr17 2282457 2282457 C G SGSM2 Nonsynonymous SNV D964E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 152350 chr2 32523345 32523345 A T YIPF4 Nonsynonymous SNV T150S 0 0 0 3 0 0 0.008 0 0 0 0 0 23.7 152351 chr3 36779865 36779865 C T rs199872230 DCLK3 Nonsynonymous SNV G96R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.74 152352 chr3 36905896 36905896 A G TRANK1 Nonsynonymous SNV M341T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.98 152353 chr3 140397159 140397159 A G TRIM42 Nonsynonymous SNV I30V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.13 152354 chr12 117691490 117691490 G A rs9658446 NOS1 Synonymous SNV P531P 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 15.44 152355 chr11 62159696 62159696 G A rs145379105 ASRGL1 Synonymous SNV K289K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.62 152356 chr14 23994123 23994123 G A rs772432211 ZFHX2 Synonymous SNV H1676H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.197 152357 chr14 24034395 24034395 C T rs371013529 AP1G2 Nonsynonymous SNV R180H 0.003 0 0 0 4 0 0 0 0 0 0 0 28.2 152358 chr9 131020422 131020422 C T rs146408180 GOLGA2 Nonsynonymous SNV R743H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14 152359 chr14 24035692 24035692 A C rs373946631 LOC102724814 0.003 0 0 0 4 0 0 0 0 0 0 0 0.084 152360 chr14 24045269 24045269 C T JPH4 Nonsynonymous SNV G259D 0.003 0 0 0 4 0 0 0 0 0 0 0 19.53 152361 chr11 62415006 62415006 C T INTS5 Nonsynonymous SNV R849Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 152362 chr3 150285750 150285750 C T EIF2A Nonsynonymous SNV P143L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 152363 chr9 131446240 131446240 G T rs191311210 SET Synonymous SNV L22L 0.002 0.005 0.014 0 2 2 0 4 0 0 0 0 Benign 0.959 152364 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAAAAAAA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 152365 chr11 63673563 63673564 TC - MARK2 L593Vfs*67 0.001 0 0 0 1 0 0 0 0 0 0 0 152366 chr12 122252320 122252320 G A rs763944606 SETD1B Synonymous SNV P733P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.748 152367 chr14 60903616 60903618 AAG - rs755644701 C14orf39 S570del 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 152368 chr2 55056484 55056484 A G rs777199584 EML6 Synonymous SNV G239G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.568 152369 chr12 122826233 122826233 A C CLIP1 Synonymous SNV V460V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 152370 chr9 134073898 134073898 G C rs61735510 NUP214 Nonsynonymous SNV V499L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 8.59 152371 chr14 36004546 36004546 C T rs139448495 INSM2 Nonsynonymous SNV A363V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.94 152372 chr12 124268494 124268494 G A rs201619821 DNAH10 Nonsynonymous SNV G334S 0.002 0 0 0 2 0 0 0 0 0 0 0 23 152373 chr12 124819746 124819746 G T rs893086396 NCOR2 Nonsynonymous SNV L2106M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 152374 chr9 135772014 135772014 C T rs118203742 TSC1 Nonsynonymous SNV G984S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.78 152375 chr2 71058270 71058270 C G rs2080391 CD207 Nonsynonymous SNV A300P 0 0 0 2 0 0 0.005 0 0 0 0 0 8.769 152376 chr9 136641186 136641186 G A rs145700399 VAV2 Nonsynonymous SNV P651L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 152377 chr3 183756412 183756412 G A rs112096436 HTR3D Nonsynonymous SNV G204S 0.005 0.013 0 1 6 5 0.003 0 1 0 0 0 24 152378 chr9 137741153 137741153 A G rs372897393 MIR3689C 0 0 0.024 0 0 0 0 7 0 0 1 0 2.105 152379 chr2 71780278 71780278 G A rs115849497 DYSF Synonymous SNV P616P 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.87 152380 chr2 73339600 73339600 G A rs755850240 RAB11FIP5 Synonymous SNV S102S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.867 152381 chr11 65562031 65562031 G A OVOL1 Nonsynonymous SNV S114N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.07 152382 chr2 73447842 73447842 G A rs779146983 SMYD5 Synonymous SNV Q133Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.468 152383 chr12 132404616 132404616 C A rs141556486 ULK1 Synonymous SNV R966R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 19.87 152384 chr3 184090832 184090832 T G rs371267401 THPO Nonsynonymous SNV T172P 0.002 0.01 0 1 2 4 0.003 0 1 0 0 0 3.43 152385 chr12 132632512 132632512 G A rs149306359 NOC4L Nonsynonymous SNV V231M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 152386 chr3 48643251 48643251 A C UQCRC1 Synonymous SNV T83T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.398 152387 chr14 76090978 76090978 C T rs45479302 FLVCR2 Nonsynonymous SNV P74S 0.005 0.01 0.01 0 6 4 0 3 0 0 0 0 Benign 32 152388 chr3 186954152 186954152 G A rs201025468 MASP1 Nonsynonymous SNV R503C 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Uncertain significance 23.2 152389 chr11 66360021 66360021 C T rs1110707 CCDC87 Nonsynonymous SNV A156T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.2 152390 chr11 67075149 67075149 T C rs138067329 SSH3 Synonymous SNV N244N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.586 152391 chr9 139749114 139749114 G A rs147996833 MAMDC4 Nonsynonymous SNV R307Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.789 152392 chr17 39502390 39502390 C T KRT33A Nonsynonymous SNV C399Y 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 22.5 152393 chr12 18793382 18793382 C T rs77070108 PIK3C2G Nonsynonymous SNV A1360V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 22.8 152394 chr12 1940533 1940533 G A rs767229402 LRTM2 Nonsynonymous SNV R167H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 152395 chr11 681035 681035 G C DEAF1 Nonsynonymous SNV L67V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 152396 chr14 91647565 91647565 A G rs80178223 DGLUCY Nonsynonymous SNV T256A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.017 152397 chr14 91671166 91671166 G C rs112112803 DGLUCY Nonsynonymous SNV A521P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.8 152398 chr14 65252552 65252552 G A rs149186357 SPTB Nonsynonymous SNV P1227S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 23.3 152399 chr9 140777372 140777372 - C LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 152400 chr11 70218347 70218347 C T rs115304320 PPFIA1 Synonymous SNV H964H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.37 152401 chr14 65418361 65418361 C G RAB15 Nonsynonymous SNV R69T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 152402 chr3 57107723 57107723 A G rs765725099 SPATA12 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.026 152403 chr14 68050567 68050567 G A rs769056448 PLEKHH1 Nonsynonymous SNV R1179H 0.003 0 0 0 4 0 0 0 0 0 0 0 20.8 152404 chr9 15623268 15623268 C G rs765682018 CCDC171 Nonsynonymous SNV Q227E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21 152405 chr11 70279759 70279759 G A rs56162978 CTTN Nonsynonymous SNV S447N 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.064 152406 chr15 100996216 100996216 T C rs114065539 CERS3 Nonsynonymous SNV H294R 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 5.92 152407 chr15 101109724 101109724 C T rs140140023 LINS1 Nonsynonymous SNV G665R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 7.311 152408 chr14 94087358 94087358 A G rs192963561 UNC79 Nonsynonymous SNV Y1503C 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 14.08 152409 chr17 40714665 40714665 C T rs117419466 COASY Synonymous SNV L9L 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 Benign 13.91 152410 chr9 2039777 2039782 CAGCAG - rs762478166 SMARCA2 Q237_Q238del 0 0 0.003 0 0 0 0 1 0 0 0 0 152411 chr14 70459174 70459174 G A rs142590267 SMOC1 Synonymous SNV P189P 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign/Likely benign 13.48 152412 chr3 62189465 62189465 C T rs114711614 PTPRG Synonymous SNV L666L 0.014 0.005 0.01 4 16 2 0.01 3 0 0 0 0 10.49 152413 chr9 20986339 20986339 G A rs780217856 FOCAD Nonsynonymous SNV R1594Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 152414 chr14 71108985 71108985 - CGGCCGAGC rs536435274 TTC9 E52_L53insPAE 0.003 0 0.003 0 3 0 0 1 0 0 0 0 152415 chr12 27470904 27470904 T A STK38L Nonsynonymous SNV F344Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 152416 chr3 64084850 64084850 G T PRICKLE2 Synonymous SNV V804V 0.001 0.005 0 7 1 2 0.018 0 0 0 0 0 0.636 152417 chr9 22451820 22451820 A G DMRTA1 Synonymous SNV S475S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.539 152418 chr17 41477374 41477374 C T ARL4D Nonsynonymous SNV R92C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 152419 chr9 2647561 2647561 G A rs115773578 VLDLR Synonymous SNV A556A 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.82 152420 chr11 73680306 73680306 A C DNAJB13 Nonsynonymous SNV T246P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 152421 chr9 2834058 2834058 G C rs750924701 PUM3 Nonsynonymous SNV A138G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 152422 chr3 72971409 72971409 A G rs61741328 GXYLT2 Nonsynonymous SNV I175V 0.003 0.003 0.007 0 3 1 0 2 0 0 1 0 Benign 24.3 152423 chr15 31521509 31521509 G T rs35836493 LOC283710 Nonsynonymous SNV P25T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.02 152424 chr15 32925201 32925201 A G rs759497241 ARHGAP11A, ARHGAP11A-SCG5 Nonsynonymous SNV E187G 0.007 0.008 0 0 8 3 0 0 0 0 0 0 18.13 152425 chr11 75140981 75140981 G A rs551557850 KLHL35 Nonsynonymous SNV R232C 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 152426 chr14 74759571 74759571 G A rs146255863 ABCD4 Synonymous SNV V9V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 152427 chr15 34168175 34168175 C T rs372785565 AVEN Nonsynonymous SNV R156Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 152428 chr14 75421906 75421906 G A rs565128099 PGF Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 152429 chr4 2514855 2514855 A G RNF4 Nonsynonymous SNV Q87R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.799 152430 chr14 76211482 76211482 C T rs141322942 TTLL5 Synonymous SNV L442L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 16.54 152431 chr15 23811286 23811286 C T rs199845546 MKRN3 Synonymous SNV H119H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.44 152432 chr12 43833862 43833862 G A rs550143996 ADAMTS20 Synonymous SNV D767D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.694 152433 chr2 127809897 127809897 G A BIN1 Synonymous SNV P317P 0 0 0 3 0 0 0.008 0 0 0 0 0 11.34 152434 chr3 111639194 111639194 G A rs748315998 PHLDB2 Synonymous SNV E643E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 13.5 152435 chr15 32925302 32925302 G A rs61733064 ARHGAP11A, ARHGAP11A-SCG5 Nonsynonymous SNV V221I 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 16.34 152436 chr17 46862418 46862418 G A rs149641326 TTLL6 Nonsynonymous SNV A329V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.201 152437 chr2 131674082 131674082 G C ARHGEF4 Nonsynonymous SNV A855P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 2.209 152438 chr9 79321050 79321050 G T rs575905068 PRUNE2 Nonsynonymous SNV T2047N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 152439 chr12 49690876 49690876 G - rs771745253 LOC101927267 0.001 0 0 0 1 0 0 0 0 0 0 0 152440 chr9 88661453 88661453 C G rs140984957 GOLM1 Nonsynonymous SNV R133S 0.004 0 0.007 0 5 0 0 2 0 0 0 0 17.62 152441 chr9 89699790 89699790 G C rs12552232 LOC494127 0 0 0.099 0 0 0 0 29 0 0 11 0 1.838 152442 chr15 42568593 42568593 A G rs77050865 GANC Nonsynonymous SNV K26R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.29 152443 chr12 50747224 50747224 G C FAM186A Nonsynonymous SNV L1131V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.294 152444 chr15 43658416 43658418 CCT - rs151154169 ZSCAN29 E371del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 152445 chr9 96054914 96054914 G A rs777694162 WNK2 Nonsynonymous SNV A1723T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.195 152446 chr14 23829490 23829490 C T rs2231801 EFS Nonsynonymous SNV V7M 0.005 0.003 0.007 4 6 1 0.01 2 0 0 0 0 25.2 152447 chr3 121414256 121414256 C T GOLGB1 Nonsynonymous SNV R1625K 0.007 0.003 0 0 8 1 0 0 0 0 0 0 21.3 152448 chr14 23866440 23866440 G A rs28730774 MYH6 Synonymous SNV N663N 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign/Likely benign 8.634 152449 chrM 1245 1245 T C RNR1 0 0 0.048 0 0 0 0 14 0 0 7 0 152450 chr15 45398509 45398509 G A rs58361817 DUOX2 Synonymous SNV G654G 0.003 0 0.01 1 3 0 0.003 3 0 0 1 0 Benign 11.25 152451 chr15 45409373 45409373 C A rs61733393 DUOXA2 Synonymous SNV T213T 0.003 0 0.01 1 3 0 0.003 3 0 0 1 0 Benign 18.02 152452 chr15 45443356 45443356 G T rs149431580 DUOX1 Nonsynonymous SNV S975I 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 7.799 152453 chr15 45444572 45444572 T C rs114272662 DUOX1 Synonymous SNV S1094S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 1.349 152454 chrX 101138687 101138687 T A rs746916762 ZMAT1 Nonsynonymous SNV D571V 0.001 0 0.007 0 1 0 0 2 0 0 1 0 12.02 152455 chrX 101971060 101971060 C T rs752558430 ARMCX5-GPRASP2, GPRASP2 Synonymous SNV S421S 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 9.64 152456 chr14 24769852 24769852 - GAG NOP9 E169_D170insE 0 0.003 0 0 0 1 0 0 0 0 0 0 152457 chr14 24802120 24802120 G A rs922153554 ADCY4 Synonymous SNV L78L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24.9 152458 chr2 160994348 160994348 C T rs1156821 ITGB6 Synonymous SNV V324V 0.002 0 0 5 2 0 0.013 0 0 0 0 0 12.42 152459 chr2 163144647 163144647 T C rs117608083 IFIH1 Nonsynonymous SNV K365E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.9 152460 chr17 57917226 57917226 C T VMP1 Nonsynonymous SNV A258V 0.009 0.008 0 2 10 3 0.005 0 0 0 0 0 16.4 152461 chr15 101588736 101588736 G A rs748456823 LRRK1 Nonsynonymous SNV R1058K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.69 152462 chr2 166799813 166799813 T C rs139457042 TTC21B Synonymous SNV G156G 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 4.141 152463 chr17 59560859 59560859 G A rs762062413 TBX4 Synonymous SNV E540E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 8.249 152464 chrX 134713929 134713929 C G rs77047796 INTS6L Nonsynonymous SNV A742G 0 0 0.007 0 0 0 0 2 0 0 1 0 0.122 152465 chr2 168101856 168101856 C G rs149234026 XIRP2 Synonymous SNV T1096T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 7.28 152466 chr2 168102416 168102416 C T rs773530884 XIRP2 Nonsynonymous SNV A1283V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.006 152467 chr15 24924038 24924038 T A rs868326604 NPAP1 Synonymous SNV I1008I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.51 152468 chr12 53723158 53723158 G A rs188929035 SP7 Nonsynonymous SNV A23V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.5 152469 chr2 171355128 171355128 A C rs770328709 MYO3B Nonsynonymous SNV H1014P 0 0 0 2 0 0 0.005 0 0 0 0 0 21.3 152470 chrX 153698919 153698919 C T rs144757857 PLXNA3 Synonymous SNV S1707S 0 0 0.007 1 0 0 0.003 2 0 0 1 0 16.89 152471 chr3 132175418 132175418 A T rs375803422 DNAJC13 Synonymous SNV T391T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.012 152472 chr2 176964892 176964892 C T HOXD12 Synonymous SNV P121P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.72 152473 chr3 133475787 133475787 T C rs8177232 TF Synonymous SNV H141H 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 0.01 152474 chr17 6683524 6683524 C T rs373411596 FBXO39 Nonsynonymous SNV R113W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 152475 chr2 179414944 179414944 C T rs200854704 TTN Nonsynonymous SNV G21476R 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 152476 chr2 179441736 179441736 T G TTN Nonsynonymous SNV E14044A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 18.88 152477 chr15 40068599 40068599 C T rs777139221 FSIP1 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 152478 chr2 179545816 179545816 G A rs751014194 TTN Synonymous SNV P9866P 0 0 0 2 0 0 0.005 0 0 0 0 0 16.22 152479 chr2 179571287 179571287 C T rs563073635 TTN Nonsynonymous SNV V8528M 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 19.71 152480 chr3 141497243 141497243 G A rs768833186 GRK7 Synonymous SNV L39L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.126 152481 chr3 148601560 148601560 C T rs146653585 CPA3 Synonymous SNV P313P 0.005 0.008 0 0 6 3 0 0 0 0 0 0 13.76 152482 chr12 5724423 5724423 G T rs116536994 ANO2 Synonymous SNV I619I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.08 152483 chr17 71199781 71199781 A G rs7208207 COG1 Nonsynonymous SNV Y744C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 22.7 152484 chr17 71231792 71231792 A G rs16977549 C17orf80 Synonymous SNV G57G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.885 152485 chr17 71231868 71231868 G A rs61732265 C17orf80 Nonsynonymous SNV V83M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.863 152486 chr17 71232382 71232382 G A rs201749578 C17orf80 Nonsynonymous SNV G254D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.57 152487 chr12 112757424 112757424 C A rs537785906 HECTD4 Synonymous SNV L100L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.85 152488 chr12 116413495 116413495 T C rs369034017 MED13L Nonsynonymous SNV I1805V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.594 152489 chr15 73590743 73590743 C G rs144865647 NEO1 Nonsynonymous SNV T1266R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25 152490 chr12 1192500 1192500 G A ERC1 Synonymous SNV E280E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 152491 chr12 1192501 1192501 C T ERC1 Synonymous SNV L281L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 152492 chr4 85564219 85564219 C T rs143560772 CDS1 Synonymous SNV L359L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.07 152493 chr12 120763662 120763662 A G rs772364885 PLA2G1B 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.3 152494 chr3 170625538 170625538 T C rs537283443 EIF5A2 Nonsynonymous SNV M20V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.75 152495 chr10 103543127 103543127 A T rs138737085 NPM3 Synonymous SNV A7A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.755 152496 chr12 121222315 121222317 AAG - SPPL3 F91del 0.001 0 0 0 1 0 0 0 0 0 0 0 152497 chr15 73635846 73635846 G A rs140902511 HCN4 Synonymous SNV I363I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 13.2 152498 chr10 105763203 105763203 C T rs201226890 SLK Nonsynonymous SNV A756V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.52 152499 chr15 81181084 81181084 A G rs146995917 CEMIP Nonsynonymous SNV Q304R 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.011 152500 chr10 105967573 105967573 C A rs41291844 CFAP43 Nonsynonymous SNV D249Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.3 152501 chr15 75503232 75503232 G A rs143724683 C15orf39 Synonymous SNV P973P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.549 152502 chr15 76171466 76171466 T A rs144579048 UBE2Q2 Nonsynonymous SNV S219R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 152503 chr14 73989255 73989255 G A rs774027986 HEATR4 Nonsynonymous SNV A201V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 152504 chr12 72278744 72278744 A T TBC1D15 Nonsynonymous SNV H166L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 152505 chr17 74005802 74005802 C T rs146508997 EVPL Nonsynonymous SNV E1184K 0.009 0.016 0.01 7 10 6 0.018 3 0 0 0 0 23.2 152506 chr2 206305382 206305382 G T PARD3B Synonymous SNV L941L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 152507 chr2 207509281 207509281 C T rs145915292 FAM237A Synonymous SNV L107L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 152508 chr12 125834396 125834396 G A rs764230525 TMEM132B Nonsynonymous SNV D156N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.411 152509 chr15 82431054 82431054 A C EFL1 Nonsynonymous SNV I989S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 152510 chr17 7481851 7481851 G A SENP3-EIF4A1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.825 152511 chr4 104027405 104027405 C T rs61756293 CENPE Nonsynonymous SNV D2573N 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 24 152512 chr2 210703982 210703982 A G rs112831177 UNC80 Synonymous SNV K1026K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 4.815 152513 chr12 93100552 93100552 C - rs756591525 C12orf74 T50Lfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 152514 chr10 124351034 124351034 G C DMBT1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 152515 chr12 133312036 133312036 G A rs774535092 ANKLE2 Synonymous SNV H552H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.212 152516 chr12 133363305 133363305 G A rs141660291 GOLGA3 Synonymous SNV I960I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.77 152517 chr12 133398623 133398623 G A rs200481057 GOLGA3 Nonsynonymous SNV P31L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 152518 chr10 126370312 126370312 G A rs572365285 FAM53B Nonsynonymous SNV A257V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.268 152519 chr12 133780972 133780974 CTT - rs368166258 ZNF268 F901del 0.002 0 0 0 2 0 0 0 0 0 0 0 152520 chr15 65685834 65685834 T A IGDCC4 Nonsynonymous SNV T584S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 152521 chr2 220334086 220334086 C T rs55916864 SPEG Nonsynonymous SNV R1234W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 152522 chr13 103410774 103410774 T C rs1049202185 CCDC168 Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.018 152523 chr15 100269596 100269596 G A rs147293942 LYSMD4 Nonsynonymous SNV P147L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.122 152524 chr10 134942372 134942372 C T rs772319353 ADGRA1 Nonsynonymous SNV P250L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 152525 chr4 148887984 148887984 T C rs764347225 ARHGAP10 Synonymous SNV H570H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.95 152526 chr2 228102710 228102710 G T rs772640950 COL4A3 Nonsynonymous SNV Q38H 0 0 0 2 0 0 0.005 0 0 0 0 0 16.47 152527 chr12 2788732 2788732 C A rs199538058 CACNA1C Synonymous SNV G1746G 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.44 152528 chr10 15290713 15290713 T A rs192241347 FAM171A1 Nonsynonymous SNV T227S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 152529 chr12 29659815 29659815 T - rs553529081 TMTC1 K871Nfs*17 0.002 0 0 0 2 0 0 0 0 0 0 0 152530 chr10 16911749 16911749 C T rs117035284 CUBN Nonsynonymous SNV G3114S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 32 152531 chr2 231314970 231314970 A C SP100 Nonsynonymous SNV S249R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.005 152532 chr17 8139231 8139231 A T CTC1 Nonsynonymous SNV L375Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 152533 chr12 32908467 32908467 G A rs115606831 YARS2 Synonymous SNV G114G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.33 152534 chr2 232135750 232135750 C T rs377378221 ARMC9 Nonsynonymous SNV A359V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 34 152535 chr13 23915027 23915027 T C rs111846884 SACS Synonymous SNV L849L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.113 152536 chr15 31239479 31239479 C T MTMR10 Nonsynonymous SNV D468N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 152537 chr13 23915032 23915032 C A rs142967124 SACS Nonsynonymous SNV V848F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.52 152538 chr15 81591866 81591866 T C rs146704319 IL16 Synonymous SNV H32H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.003 152539 chr4 169340522 169340522 A G rs371791071 DDX60L Synonymous SNV F847F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.775 152540 chr16 19020615 19020615 C T rs148785871 TMC7 Synonymous SNV S63S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.5 152541 chr4 170043268 170043268 C T rs148721890 SH3RF1 Synonymous SNV P443P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.44 152542 chr4 8607848 8607848 A C rs147806032 CPZ Nonsynonymous SNV N270T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 152543 chr15 40398238 40398238 G A rs148420422 BMF Nonsynonymous SNV P17L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 152544 chr10 30657988 30657988 G A rs45500992 GOLGA2P6 0 0 0.003 0 0 0 0 1 0 0 0 0 4.461 152545 chr12 48921762 48921762 G C OR8S1 Nonsynonymous SNV R319T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.21 152546 chr10 43882553 43882553 G A rs538631552 HNRNPF Synonymous SNV F260F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.606 152547 chr4 187113076 187113076 G A rs145611966 CYP4V2 Synonymous SNV L33L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.152 152548 chr10 44876259 44876259 A G rs138862128 CXCL12 Nonsynonymous SNV V44A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 152549 chr16 21698895 21698895 C T rs774277243 OTOA Synonymous SNV S108S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 152550 chr16 23669899 23669899 G T DCTN5 Synonymous SNV V63V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.586 152551 chr2 242066525 242066525 G A rs773924956 PASK Nonsynonymous SNV A602V 0 0 0 2 0 0 0.005 0 0 0 0 0 6.407 152552 chr5 173046 173046 G A rs375135476 PLEKHG4B Nonsynonymous SNV R1362Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.133 152553 chr15 43023421 43023421 G A rs186400047 CDAN1 Synonymous SNV D616D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.08 152554 chr15 90319773 90319773 G A rs566641514 MESP2 Nonsynonymous SNV R62Q 0.012 0.008 0.003 2 14 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.711 152555 chr4 40351208 40351208 G A rs55665751 CHRNA9 Synonymous SNV P225P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 4.219 152556 chr3 1363480 1363480 G A rs41293401 CNTN6 Nonsynonymous SNV R199Q 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 Likely benign 34 152557 chr15 45898701 45898701 A G rs760751818 BLOC1S6 Nonsynonymous SNV K175E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.5 152558 chr16 2880482 2880482 A T rs73495338 ZG16B Nonsynonymous SNV T50S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 152559 chr16 2880784 2880786 CTC - rs140139202 ZG16B L85del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 152560 chr16 2881930 2881930 A G rs35533993 ZG16B Nonsynonymous SNV M133V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.268 152561 chr18 33557555 33557555 G A rs745976900 C18orf21 Synonymous SNV S73S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 11.12 152562 chr15 50264839 50264839 C T rs138799625 ATP8B4 Nonsynonymous SNV G395S 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 29.6 152563 chr4 53610402 53610402 G A rs141114710 ERVMER34-1 Nonsynonymous SNV P429L 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.003 152564 chr4 53610788 53610788 - A rs779855268 ERVMER34-1 Frameshift insertion L300Ffs*13 0.003 0.003 0 0 3 1 0 0 0 0 0 0 152565 chr10 54076154 54076154 C A DKK1 Nonsynonymous SNV S169Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 152566 chr5 11732339 11732339 G C rs140086280 CTNND2 Nonsynonymous SNV T28R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.22 152567 chr5 13700783 13700783 C G rs374221053 DNAH5 Nonsynonymous SNV L4563F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22 152568 chr10 5782022 5782022 C A rs4748636 TASOR2 Nonsynonymous SNV A549D 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 24.1 152569 chr16 1004626 1004626 G C rs149929337 LMF1 Synonymous SNV L78L 0.002 0.01 0.007 3 2 4 0.008 2 0 0 0 0 Benign 0.71 152570 chr10 5963496 5963496 G A rs766748348 FBH1 Synonymous SNV T688T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 152571 chr18 43675044 43675044 G A rs138315345 ATP5F1A Synonymous SNV A38A 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Likely benign 13.91 152572 chr10 6005756 6005756 G A rs41294171 IL15RA Nonsynonymous SNV T75M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.81 152573 chr13 77532112 77532112 C T ACOD1 Nonsynonymous SNV L480F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 152574 chr3 10334422 10334422 G A GHRLOS 0 0 0 4 0 0 0.01 0 0 0 0 0 5.191 152575 chr16 3139456 3139456 T C ZSCAN10 Nonsynonymous SNV K266R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 152576 chr10 64219532 64219532 G A rs137933453 ZNF365 Synonymous SNV V319V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.311 152577 chr5 31267779 31267779 A G rs766885014 CDH6 Nonsynonymous SNV T67A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 152578 chr13 95860088 95860088 T C rs11568684 ABCC4 Nonsynonymous SNV K218E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 152579 chr18 52928721 52928721 A G rs142998298 TCF4 Synonymous SNV D162D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 4.581 152580 chr5 34757629 34757629 T G rs114642247 RAI14 Nonsynonymous SNV D23E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 1.038 152581 chr10 70332477 70332477 G T rs142008363 TET1 Nonsynonymous SNV V128F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.4 152582 chr12 55688910 55688910 C G rs144114739 OR6C6 Nonsynonymous SNV S36T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.971 152583 chr14 100847483 100847483 G A rs773216459 WDR25 Synonymous SNV G74G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.342 152584 chr16 3779378 3779378 G A rs115594471 CREBBP Synonymous SNV P1852P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 7.027 152585 chr15 64008505 64008505 A G HERC1 Synonymous SNV A1382A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.377 152586 chr16 1550474 1550474 C T rs200293618 TELO2 Nonsynonymous SNV R377W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 152587 chr3 15301403 15301403 G A SH3BP5-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.992 152588 chr15 65491146 65491146 C T rs201168275 CILP Nonsynonymous SNV R493Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 152589 chr16 4848159 4848159 G T ROGDI Synonymous SNV S186S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.871 152590 chr5 40853573 40853573 G A rs764203570 CARD6 Synonymous SNV Q713Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 1.253 152591 chr3 20167502 20167502 C T rs367786973 KAT2B Nonsynonymous SNV P507S 0.003 0 0 4 4 0 0.01 0 0 0 0 0 17.82 152592 chr16 19547955 19547955 A G CCP110 Nonsynonymous SNV K322E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18 152593 chr3 27463247 27463247 T C rs761555554 SLC4A7 Synonymous SNV K302K 0 0 0 3 0 0 0.008 0 0 0 0 0 9.217 152594 chr16 2034408 2034408 G C rs375792737 GFER Nonsynonymous SNV E63D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.64 152595 chr4 82368687 82368687 C T rs776617836 RASGEF1B Nonsynonymous SNV V192M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.6 152596 chr10 76788618 76788618 G T rs542036896 KAT6B Nonsynonymous SNV D565Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.97 152597 chr5 52096776 52096776 A C PELO Nonsynonymous SNV E183A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.93 152598 chr18 67406318 67406318 A C DOK6 Synonymous SNV L239L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.131 152599 chr3 37367191 37367191 T A rs750847216 GOLGA4 Nonsynonymous SNV S1272T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.68 152600 chr3 38537885 38537885 C T rs145619725 EXOG Synonymous SNV R9R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 16.65 152601 chr15 73624565 73624565 G A HCN4 Synonymous SNV L426L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.223 152602 chr10 82269185 82269185 C T rs116583360 TSPAN14 Synonymous SNV D136D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 18.36 152603 chr16 57394356 57394356 C T rs34057704 CCL22 Synonymous SNV Y27Y 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 9.449 152604 chr12 6484016 6484016 C T rs573341191 SCNN1A Synonymous SNV P37P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.95 152605 chr16 2326700 2326700 G A rs768718547 ABCA3 Nonsynonymous SNV P1697L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 16.78 152606 chr18 72998833 72998833 G A rs754868195 TSHZ1 Nonsynonymous SNV A491T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.135 152607 chr10 91192830 91192830 G T rs151275788 SLC16A12 Nonsynonymous SNV S514R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.016 152608 chr10 94274700 94274700 A G rs200118524 IDE Nonsynonymous SNV M254T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 152609 chr10 95139635 95139635 A G rs780389546 MYOF Synonymous SNV A649A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 152610 chr16 67221340 67221340 C T rs138101611 EXOC3L1 Synonymous SNV L276L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 10.09 152611 chr10 96350249 96350249 A T rs189788350 HELLS Nonsynonymous SNV D425V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 152612 chr15 79298568 79298568 T C RASGRF1 Nonsynonymous SNV I679V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.75 152613 chr10 97366675 97366675 C T rs148601288 ALDH18A1 Synonymous SNV S532S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 17.9 152614 chr16 2821509 2821509 G A rs149027706 ELOB Synonymous SNV D150D 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.245 152615 chr16 69184781 69184781 G A rs763509506 UTP4 Nonsynonymous SNV A243T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.2 152616 chr16 2849515 2849515 C T rs117070691 PRSS41 Synonymous SNV F191F 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 7.866 152617 chr19 1003292 1003292 G A rs149087926 GRIN3B Nonsynonymous SNV R197Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.04 152618 chr16 66801331 66801331 C T rs369618997 TERB1 Synonymous SNV T589T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.22 152619 chr10 98469734 98469734 G A rs73334383 PIK3AP1 Nonsynonymous SNV P7L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.003 152620 chr10 98588440 98588440 A G rs192456466 MIR607 0 0 0.003 0 0 0 0 1 0 0 0 0 1.373 152621 chr16 2854494 2854494 T C rs61747738 PRSS41 Nonsynonymous SNV W245R 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 0.485 152622 chr16 2868885 2868885 C T rs2074905 PRSS21 Synonymous SNV P153P 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 9.827 152623 chr16 2871452 2871452 G A rs2072273 PRSS21 Nonsynonymous SNV R264Q 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 23.6 152624 chr16 2880299 2880299 C A rs17136080 ZG16B Synonymous SNV P17P 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 11.03 152625 chr12 70970346 70970346 G A rs201275683 PTPRB Synonymous SNV P578P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.442 152626 chr4 106647962 106647962 C T GSTCD Nonsynonymous SNV P374L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 27.8 152627 chr14 21793459 21793459 C T rs145896974 RPGRIP1 Synonymous SNV L762L 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.9 152628 chr12 7280838 7280838 G A rs781740169 RBP5 Stop gain Q84X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 152629 chr16 2987124 2987124 G A rs372102621 FLYWCH1 Nonsynonymous SNV G506S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 152630 chr12 75687045 75687045 - TATTTGAT rs535656542 CAPS2 Stop gain A265Ifs*3 0.003 0 0 0 4 0 0 0 0 0 0 0 152631 chr4 110605736 110605736 A G rs754816943 MCUB Synonymous SNV P250P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.803 152632 chr16 30133254 30133254 A T MAPK3 Nonsynonymous SNV C82S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 152633 chr16 72991886 72991886 G A rs371093012 ZFHX3 Nonsynonymous SNV T720M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 152634 chr14 23821163 23821163 G A rs146673692 SLC22A17 Synonymous SNV I87I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.57 152635 chr4 113538963 113538963 C G rs761809491 ZGRF1 Nonsynonymous SNV Q745H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.4 152636 chr14 23889429 23889429 C T rs45554236 MYH7 Synonymous SNV E1117E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 10.37 152637 chr16 74926406 74926406 G A rs145041449 WDR59 Synonymous SNV L686L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.41 152638 chr19 1109595 1109595 G T rs185032569 SBNO2 Synonymous SNV I985I 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 14.19 152639 chr19 11123738 11123738 C T rs28997580 SMARCA4 Synonymous SNV L796L 0.008 0.016 0.007 3 9 6 0.008 2 0 0 0 0 Benign 16.3 152640 chr16 79245687 79245687 C T rs199576434 WWOX Synonymous SNV S300S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 15.28 152641 chr19 11728257 11728257 G A rs143884853 ZNF627 Synonymous SNV G203G 0.014 0.018 0.014 9 16 7 0.023 4 0 0 0 0 11.05 152642 chr11 101918217 101918217 C T rs184947491 CFAP300 Nonsynonymous SNV L6F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.921 152643 chr3 52522091 52522091 C A rs77768459 NISCH Synonymous SNV V861V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.77 152644 chr12 94618084 94618084 T C rs116465617 PLXNC1 Synonymous SNV L595L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 0.038 152645 chr4 140187985 140187985 G A rs6823412 MGARP Nonsynonymous SNV A164V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.811 152646 chr5 94839536 94839536 A G rs139370051 TTC37 Nonsynonymous SNV Y1067H 0 0 0 2 0 0 0.005 0 0 0 0 0 19.73 152647 chr16 4414343 4414343 C A CORO7, CORO7-PAM16 Synonymous SNV A318A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 152648 chr5 95242344 95242344 G A rs61733079 ELL2 Synonymous SNV D208D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.157 152649 chr5 96078393 96078393 C T rs149270486 CAST Nonsynonymous SNV S241L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.9 152650 chr4 148407109 148407109 C T rs199631962 EDNRA Synonymous SNV I92I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.18 152651 chr16 83991338 83991338 T C rs190780148 OSGIN1 Nonsynonymous SNV I21T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 152652 chr13 101714406 101714406 C T NALCN Nonsynonymous SNV E1528K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 152653 chr5 110079482 110079482 A G rs151055603 SLC25A46 Synonymous SNV Q126Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.632 152654 chr16 50340994 50340994 G A ADCY7 Nonsynonymous SNV D596N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.533 152655 chr13 103388378 103388378 C T rs151197307 CCDC168 Nonsynonymous SNV G4890D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.4 152656 chr11 111746797 111746797 T C rs142473337 FDXACB1 Nonsynonymous SNV I242V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 152657 chr11 112072824 112072824 A G rs775975502 BCO2 Nonsynonymous SNV I296V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.673 152658 chr3 62636713 62636713 T C rs770947824 CADPS Nonsynonymous SNV M338V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 152659 chr11 113220867 113220867 A T TTC12 Synonymous SNV T384T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 152660 chr3 65346893 65346893 G A rs61751923 MAGI1 Synonymous SNV D1205D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.669 152661 chr14 54423523 54423523 C T BMP4 Nonsynonymous SNV G6R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 152662 chr3 69167861 69167861 A G rs200045981 LMOD3 Nonsynonymous SNV Y549H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 26.2 152663 chr5 115782528 115782528 G A rs200149042 SEMA6A Synonymous SNV N958N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.058 152664 chr16 88753314 88753314 T C rs1036674605 SNAI3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.64 152665 chr3 74350808 74350808 G C rs146095571 CNTN3 Synonymous SNV T645T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.82 152666 chr16 1251982 1251982 C T CACNA1H Nonsynonymous SNV T511I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.123 152667 chr5 126746147 126746147 C T rs35550094 MEGF10 Synonymous SNV N328N 0.008 0.01 0.014 6 9 4 0.015 4 0 0 0 0 Benign/Likely benign 16.93 152668 chr11 117222691 117222691 C T rs143659874 CEP164 Nonsynonymous SNV P127L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 19.55 152669 chr5 127624882 127624882 C T rs753028396 FBN2 Nonsynonymous SNV G2192R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 152670 chr3 97680522 97680522 C G rs187506362 RIOX2 Nonsynonymous SNV E155Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.5 152671 chr16 57719607 57719607 G T rs148958069 ADGRG3 Nonsynonymous SNV G317C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 152672 chr16 1397741 1397741 C T rs768512548 BAIAP3 Nonsynonymous SNV R946C 0 0.003 0 0 0 1 0 0 0 0 0 0 28 152673 chr5 131007725 131007725 T C rs146785367 FNIP1 Synonymous SNV Q776Q 0.004 0.01 0 5 5 4 0.013 0 0 0 0 0 0.006 152674 chr11 118373179 118373179 G A rs141727765 KMT2A Nonsynonymous SNV R2191Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 23 152675 chr16 89265964 89265964 C T rs76283034 SLC22A31 Nonsynonymous SNV R29Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 152676 chr16 15133874 15133874 C G rs200577362 NTAN1 Synonymous SNV R92R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.454 152677 chr14 65208440 65208440 C T rs771313123 PLEKHG3 Synonymous SNV S735S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.25 152678 chr3 102176634 102176634 G A rs72942858 ZPLD1 Synonymous SNV A189A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.02 152679 chr3 102187979 102187979 G A rs58997897 ZPLD1 Synonymous SNV P327P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 8.673 152680 chr16 8989511 8989511 C T rs61731196 USP7 Synonymous SNV T953T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 18.16 152681 chr13 25744741 25744741 G A AMER2 Synonymous SNV S339S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.94 152682 chr3 111764762 111764762 T G TMPRSS7 Synonymous SNV A84A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 152683 chr13 28155444 28155444 G C LNX2 Nonsynonymous SNV L133V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 152684 chr17 10367998 10367998 G A rs563253512 MYH4 Nonsynonymous SNV T178I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 152685 chr13 30096512 30096512 G A rs574126039 SLC7A1 Synonymous SNV N377N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 152686 chr16 69786258 69786258 C G rs144970081 NOB1 Nonsynonymous SNV K71N 0.008 0.008 0 1 9 3 0.003 0 1 0 0 0 31 152687 chr14 71575484 71575484 G T PCNX1 Nonsynonymous SNV Q2044H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 152688 chr16 70688560 70688560 C A rs143111548 IL34 Synonymous SNV R50R 0.003 0 0 0 4 0 0 0 0 0 0 0 21.9 152689 chr14 74413037 74413037 T C rs150856840 FAM161B Nonsynonymous SNV Q109R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 152690 chr16 89735891 89735891 - TG rs147716338 SPATA33 Frameshift insertion H106Lfs*19 0.011 0.005 0 0 13 2 0 0 0 0 0 0 152691 chr14 74527394 74527396 TCT - rs771596943 ALDH6A1 E506del 0.001 0 0 0 1 0 0 0 0 0 0 0 152692 chr16 89922602 89922602 C T rs199970599 SPIRE2 Nonsynonymous SNV R354W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 152693 chr14 75248312 75248312 A G rs77921745 YLPM1 Synonymous SNV P522P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.324 152694 chr13 38211484 38211484 C T rs762037645 TRPC4 Synonymous SNV R657R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 152695 chr16 75446502 75446502 G A rs141124786 CFDP1 Synonymous SNV D111D 0.005 0.003 0.003 6 6 1 0.015 1 0 0 0 0 10.99 152696 chr3 121976107 121976107 C A rs778201006 CASR Nonsynonymous SNV S122Y 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 25.4 152697 chr13 43538228 43538228 G A rs745970028 EPSTI1 Synonymous SNV L127L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 152698 chr14 78288830 78288830 G C rs150283628 ADCK1 Nonsynonymous SNV G63A 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 12.55 152699 chr5 7863055 7863055 G A rs750513608 FASTKD3 Nonsynonymous SNV S527F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 152700 chr14 80327852 80327852 G T rs61738630 NRXN3 Nonsynonymous SNV V487L 0.009 0.003 0.01 3 11 1 0.008 3 0 0 0 0 12.08 152701 chr17 17900920 17900920 T C rs186533138 DRC3 Nonsynonymous SNV I324T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.3 152702 chr16 27460008 27460008 G A rs1017631687 IL21R Nonsynonymous SNV V341M 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 5.476 152703 chr13 46549934 46549934 T C ZC3H13 Nonsynonymous SNV N651S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 152704 chr17 18039940 18039940 G A rs186426892 MYO15A Synonymous SNV A1573A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.659 152705 chr11 128839657 128839657 A G rs141689602 ARHGAP32 Synonymous SNV L1454L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 152706 chr16 28499044 28499044 T C rs11552531 CLN3 Nonsynonymous SNV I27V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 23.3 152707 chr11 130284596 130284596 T C rs200212101 ADAMTS8 Nonsynonymous SNV T466A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.75 152708 chr17 1673229 1673229 G A rs140055545 SERPINF1 Synonymous SNV A56A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.562 152709 chr13 48571139 48571139 A C rs62636645 SUCLA2 Nonsynonymous SNV L37W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 25.2 152710 chr16 814119 814119 G A rs146256452 MSLN Synonymous SNV K92K 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 5.588 152711 chr5 24509749 24509749 A C rs151317371 CDH10 Nonsynonymous SNV H394Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.19 152712 chr11 1492553 1492553 C T rs369443642 MOB2 Synonymous SNV T154T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 152713 chr17 1968903 1968903 C G rs2232488 SMG6 Synonymous SNV V213V 0.013 0.008 0.003 4 15 3 0.01 1 0 0 0 0 10.74 152714 chr16 30615849 30615849 G A rs59446493 ZNF689 Synonymous SNV P413P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.005 152715 chr16 30980744 30980744 C T rs2305881 SETD1A Synonymous SNV S963S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.73 152716 chr16 31091598 31091598 G A rs3751856 ZNF646 Nonsynonymous SNV R1318Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.42 152717 chr17 19285479 19285479 G A rs2233080 MAPK7 Synonymous SNV A482A 0.003 0 0 0 4 0 0 0 0 0 0 0 0.185 152718 chr17 1943049 1943049 G T DPH1 Synonymous SNV V92V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 152719 chr5 37305185 37305185 G A rs371389922 NUP155 Synonymous SNV L947L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 12.01 152720 chr13 92380829 92380829 G A rs145199435 GPC5 Nonsynonymous SNV S355N 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 24.6 152721 chr16 31501798 31501798 A G rs61742739 SLC5A2 Nonsynonymous SNV N654S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 152722 chr16 85813397 85813397 C T rs755279287 EMC8 Nonsynonymous SNV V184M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 152723 chr3 132297939 132297942 TTGA - rs761816123 NPHP3-ACAD11 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 152724 chr15 100692938 100692938 G A rs767903685 ADAMTS17 Nonsynonymous SNV T451M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 152725 chr16 87678576 87678576 C T rs34975147 JPH3 Synonymous SNV R365R 0.005 0.003 0.007 5 6 1 0.013 2 0 0 0 0 12.88 152726 chr5 50117148 50117148 T G rs146540300 PARP8 Synonymous SNV P569P 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 8.404 152727 chr3 134366282 134366282 A G rs535313523 KY Nonsynonymous SNV F65S 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 10.45 152728 chr16 4016932 4016932 C T rs141519764 ADCY9 Nonsynonymous SNV R969H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.698 152729 chr5 167850835 167850835 G A WWC1 Synonymous SNV L524L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.648 152730 chr16 88690383 88690388 CGTCCC - rs772867122 ZC3H18 S609_P610del 0.002 0 0 0 2 0 0 0 0 0 0 0 152731 chr11 2154768 2154768 C T rs554586231 IGF2 Synonymous SNV S95S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 152732 chr3 138038411 138038411 T A NME9 Nonsynonymous SNV Y35F 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 24.8 152733 chr19 36278265 36278265 G A rs141421656 ARHGAP33 Nonsynonymous SNV R797H 0.008 0.01 0.003 0 9 4 0 1 0 0 0 0 21.3 152734 chr16 88776402 88776402 G A rs149997219 CTU2 Nonsynonymous SNV R67Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 152735 chr5 167944897 167944897 A G RARS1 Nonsynonymous SNV H568R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 152736 chr17 27580775 27580775 G A rs117757092 CRYBA1 Nonsynonymous SNV G159S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 26.9 152737 chr5 61846261 61846261 A G rs374422328 IPO11 Nonsynonymous SNV Y813C 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.47 152738 chr19 36616573 36616573 G A rs765186291 TBCB Synonymous SNV V208V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 152739 chr3 143704576 143704576 C G rs149092475 DIPK2A Synonymous SNV L74L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 152740 chr17 26939666 26939666 T C rs147269427 RSKR Nonsynonymous SNV S173G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 152741 chr5 169724565 169724565 G A rs185684604 LCP2 Synonymous SNV P17P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 152742 chr14 104642547 104642547 T C rs918161558 KIF26A Nonsynonymous SNV L1141P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.527 152743 chr3 147128682 147128682 A G ZIC1 Synonymous SNV V261V 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 7.281 152744 chr11 2608860 2608860 C T rs199472776 KCNQ1 Nonsynonymous SNV R397W 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 152745 chr5 176309059 176309059 C T rs149259055 HK3 Nonsynonymous SNV R708H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 12.71 152746 chr17 2934257 2934257 C T rs201869060 RAP1GAP2 Nonsynonymous SNV R702C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 152747 chr5 176323097 176323097 C G rs201418082 HK3 Nonsynonymous SNV G22R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.49 152748 chr3 151163582 151163582 G A rs144379097 IGSF10 Nonsynonymous SNV S1396F 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.6 152749 chr5 73200186 73200186 A G rs764805762 ARHGEF28 Nonsynonymous SNV I1060V 0.009 0.008 0 0 11 3 0 0 0 0 0 0 3.391 152750 chr5 74028914 74028914 T C GFM2 Nonsynonymous SNV H460R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.27 152751 chr5 75596618 75596618 G A rs113489031 SV2C Synonymous SNV T567T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 13.17 152752 chr16 56500801 56500801 G A rs145169317 OGFOD1 Synonymous SNV P192P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.97 152753 chr15 40093926 40093926 G T rs1022003254 GPR176 Nonsynonymous SNV L274I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 152754 chr16 57416487 57416487 G A rs150690781 CX3CL1 Nonsynonymous SNV R161H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.912 152755 chr16 57719771 57719771 G T rs74566764 ADGRG3 Synonymous SNV G371G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 6.151 152756 chr14 20784632 20784632 G A rs368121433 CCNB1IP1 Synonymous SNV I17I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.985 152757 chr17 10247305 10247305 T C rs764591713 MYH13 Nonsynonymous SNV K569R 0.004 0 0 0 5 0 0 0 0 0 0 0 21.3 152758 chr3 171362785 171362785 C T rs2287579 PLD1 Nonsynonymous SNV V782M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 28.1 152759 chr15 41062991 41062991 C T C15orf62 Nonsynonymous SNV P100S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.81 152760 chr19 39959990 39959990 C T rs750870340 SUPT5H Synonymous SNV S438S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.9 152761 chr5 180659787 180659787 G A rs144248003 TRIM41 Synonymous SNV A346A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.09 152762 chr15 41709458 41709458 G A RTF1 Nonsynonymous SNV V49I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 152763 chr15 42111514 42111514 G A rs201725344 MAPKBP1 Nonsynonymous SNV E788K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 152764 chr11 4510625 4510625 C G rs145681165 OR52K1 Synonymous SNV L165L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.172 152765 chr11 4510629 4510629 C T rs138371378 OR52K1 Nonsynonymous SNV R167C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 152766 chr11 4510631 4510631 C T rs142554979 OR52K1 Synonymous SNV R167R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.028 152767 chr14 22038276 22038276 C T rs28436899 OR10G3 Synonymous SNV T200T 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 11.8 152768 chr3 183824419 183824419 C T rs370963554 HTR3E Nonsynonymous SNV R463C 0 0 0 3 0 0 0.008 0 0 0 0 0 25.1 152769 chr19 40901528 40901528 C T rs377457671 PRX Nonsynonymous SNV V911M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 13.23 152770 chr19 40903524 40903524 C T PRX Synonymous SNV E245E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.44 152771 chr11 46407642 46407642 C A CHRM4 Nonsynonymous SNV A156S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 152772 chr19 40971518 40971518 T C rs778304380 BLVRB Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 152773 chr11 47204107 47204107 C T PACSIN3 Nonsynonymous SNV G20S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 152774 chr14 24108497 24108497 G A rs45599632 DHRS2 Nonsynonymous SNV G84R 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 Likely benign 24.4 152775 chr6 13615622 13615622 C - NOL7 P12Rfs*56 0 0 0 1 0 0 0.003 0 0 0 0 0 152776 chr6 16326929 16326929 A C ATXN1 Nonsynonymous SNV L538R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 152777 chr17 18087693 18087693 G A rs1016527303 ALKBH5 Nonsynonymous SNV A46T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 152778 chr17 39140164 39140164 A C KRT40 Nonsynonymous SNV I121S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 152779 chr5 102433434 102433434 G A rs199822018 GIN1 Nonsynonymous SNV H84Y 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 1.219 152780 chr6 24658948 24658948 T C rs61757564 TDP2 Nonsynonymous SNV N89S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Likely benign 0.004 152781 chr17 39551599 39551599 C T rs374086824 KRT31 Synonymous SNV V258V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.73 152782 chr19 44169542 44169542 T C PLAUR Nonsynonymous SNV Y79C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 152783 chr5 114598473 114598473 C T PGGT1B Nonsynonymous SNV V26M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 35 152784 chr14 37736325 37736325 A T rs143309588 MIPOL1 Nonsynonymous SNV S68C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.736 152785 chr14 38724185 38724185 C T rs60904056 CLEC14A Nonsynonymous SNV R348Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.505 152786 chr17 40030144 40030144 G A rs782154200 ACLY Synonymous SNV Y898Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.229 152787 chr17 40257123 40257123 C T rs144853237 DHX58 Synonymous SNV T438T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.06 152788 chr14 44975836 44975836 G A rs36083807 FSCB Nonsynonymous SNV P119S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.009 152789 chr15 63889699 63889699 C T rs147980580 FBXL22 Synonymous SNV C36C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.214 152790 chr3 196754717 196754717 G A rs146637551 MELTF Synonymous SNV N38N 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 1.879 152791 chr5 127800539 127800539 G A rs367767903 FBN2 Nonsynonymous SNV T235M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 152792 chr4 436296 436296 T C rs80296829 ZNF721 Nonsynonymous SNV T654A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.069 152793 chr4 467945 467945 C G ABCA11P 0 0 0 2 0 0 0.005 0 0 0 0 0 5.442 152794 chr19 4511634 4511634 T C PLIN4 Nonsynonymous SNV T780A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 152795 chr16 85952285 85952285 C T rs372510203 IRF8 Synonymous SNV F84F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 16.36 152796 chr16 87466803 87466803 A G rs146823917 ZCCHC14 Synonymous SNV S233S 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 3.31 152797 chr16 87678107 87678107 G C rs144296512 JPH3 Nonsynonymous SNV S209T 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Likely benign 11.53 152798 chr4 1165660 1165660 G T rs371203962 SPON2 Nonsynonymous SNV A67E 0 0 0 2 0 0 0.005 0 0 0 0 0 34 152799 chr17 41231395 41231395 C T BRCA1 Nonsynonymous SNV R1460K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 152800 chr17 4447804 4447804 G A rs369286566 MYBBP1A Synonymous SNV H873H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.931 152801 chr15 72338254 72338254 A T rs757574142 MYO9A Synonymous SNV A217A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 152802 chr14 58811431 58811431 C T rs761573983 ARID4A Nonsynonymous SNV P309S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 152803 chr4 1988158 1988158 G A rs371533378 MIR943 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.638 152804 chr14 58924598 58924598 A G KIAA0586 Nonsynonymous SNV Q355R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 152805 chr15 73735590 73735590 C T rs753250701 REC114 Nonsynonymous SNV P22S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.7 152806 chr4 2986306 2986306 G T rs200613667 GRK4 Nonsynonymous SNV S40I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 152807 chr15 74473271 74473271 G A rs757931484 STRA6 Synonymous SNV Y564Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.844 152808 chr6 37414087 37414087 A C CMTR1 Nonsynonymous SNV E102D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 152809 chr15 74836527 74836527 C T rs781388841 ARID3B Nonsynonymous SNV R84W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 152810 chr15 75122525 75122525 C A rs140289965 CPLX3 Synonymous SNV R103R 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 20.6 152811 chr14 61747119 61747119 G C rs28731324 TMEM30B Nonsynonymous SNV D249E 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 22.5 152812 chr15 75654722 75654722 C T MAN2C1 Nonsynonymous SNV G225R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 152813 chr17 48265996 48265996 A G rs147743501 COL1A1 Synonymous SNV G1034G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.56 152814 chr5 140787935 140787935 C T PCDHGB6 Nonsynonymous SNV L56F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 152815 chr5 140789156 140789156 G A PCDHGB6 Nonsynonymous SNV E463K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 152816 chr17 45777015 45777015 A G rs182849852 TBKBP1 Nonsynonymous SNV N275S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 152817 chr5 140811994 140811994 C G PCDHGA12 Nonsynonymous SNV N556K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 152818 chr14 65016748 65016748 G A PPP1R36 Synonymous SNV R11R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.625 152819 chr16 89629387 89629387 C G rs16966725 RPL13 Synonymous SNV L191L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.53 152820 chr4 6577049 6577049 G A rs200406024 MAN2B2 Nonsynonymous SNV D38N 0.003 0.008 0 5 4 3 0.013 0 0 0 0 1 28.3 152821 chr15 80762760 80762760 C T rs780074025 ARNT2 Synonymous SNV F132F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 152822 chr15 81213410 81213410 A C rs760417459 CEMIP Nonsynonymous SNV N681H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 152823 chr14 68878202 68878202 T C rs777308562 RAD51B Synonymous SNV N305N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.745 152824 chr17 46629819 46629819 G A rs201832249 HOXB3 Synonymous SNV Y6Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.799 152825 chr19 49564992 49564992 G A rs61732310 NTF4 Nonsynonymous SNV A88V 0.009 0.005 0.014 5 10 2 0.013 4 0 0 0 0 Uncertain significance 13.49 152826 chr17 47875800 47875800 G A rs374961973 KAT7 Nonsynonymous SNV A154T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.7 152827 chr19 49878258 49878258 C A rs141769377 DKKL1 Stop gain Y203X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 152828 chr17 48172892 48172892 G - rs771003340 PDK2 S32Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 152829 chr5 149212352 149212352 G A rs151338666 PPARGC1B Nonsynonymous SNV S200N 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 11.6 152830 chr5 149357689 149357689 T C rs374572095 SLC26A2 Synonymous SNV R158R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 6.135 152831 chr5 149433752 149433752 A G rs41287092 CSF1R Synonymous SNV G933G 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 Benign 6.608 152832 chr5 149497358 149497358 C T rs35731372 PDGFRB Nonsynonymous SNV R923Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 35 152833 chr11 57513307 57513307 T G BTBD18 Synonymous SNV P146P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 152834 chr17 39341005 39341005 A G rs372374744 KRTAP4-1 Synonymous SNV C34C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.051 152835 chr19 50979165 50979165 C A rs138219947 FAM71E1 Synonymous SNV R95R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.16 152836 chr17 62529088 62529088 T C CEP95 Nonsynonymous SNV C438R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.197 152837 chr11 58391505 58391505 A G rs374647160 CNTF 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 152838 chr11 58723197 58723197 A G rs372691267 GLYATL1 Nonsynonymous SNV I202M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 152839 chr17 39724447 39724447 T A KRT9 Nonsynonymous SNV Y454F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.9 152840 chr11 6023765 6023765 G A rs776042217 OR56A4 Nonsynonymous SNV A153V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.642 152841 chr14 92624144 92624144 C T rs146590887 CPSF2 Synonymous SNV R528R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 14.12 152842 chr17 40695686 40695686 C T rs368521316 NAGLU Synonymous SNV P554P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.364 152843 chr17 62075807 62075807 G A rs779890451 PRR29-AS1 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.5 152844 chr17 62078505 62078505 A - rs769504229 PRR29 E102Gfs*15 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 152845 chr17 69519 69519 T C rs144069985 RPH3AL Nonsynonymous SNV S179G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.7 152846 chr17 7129412 7129412 G A rs143063937 DVL2 Synonymous SNV H661H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.302 152847 chr17 41477480 41477480 G A ARL4D Nonsynonymous SNV G127D 0.005 0 0 1 6 0 0.003 0 0 0 0 0 22.1 152848 chr4 56878116 56878116 G A rs145959811 CEP135 Nonsynonymous SNV E923K 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 152849 chr17 41585386 41585386 A G rs778593010 DHX8 Synonymous SNV P682P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.01 152850 chr17 64173012 64173012 G A rs150126064 CEP112 Nonsynonymous SNV A78V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.193 152851 chr14 94964127 94964127 A G rs61758960 SERPINA12 Nonsynonymous SNV L203P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 152852 chr16 1392632 1392632 G A rs146826887 BAIAP3 Synonymous SNV T354T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.155 152853 chr17 42476645 42476645 C T rs201526131 GPATCH8 Nonsynonymous SNV D856N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.01 152854 chr11 62299344 62299344 C A rs756846699 AHNAK Nonsynonymous SNV V849F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 152855 chr5 176638488 176638488 T C rs61756006 NSD1 Synonymous SNV L1030L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.08 152856 chr17 27934801 27934801 G A rs752970572 ANKRD13B Synonymous SNV L52L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.93 152857 chr17 67003966 67003966 A G rs112499807 ABCA9 Synonymous SNV Y1123Y 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.034 152858 chr17 4498559 4498559 C G SMTNL2 Nonsynonymous SNV T309S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.2 152859 chr16 1607975 1607975 T C rs144938800 IFT140 Nonsynonymous SNV D787G 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Uncertain significance 26.4 152860 chr16 16184331 16184331 G A rs186193767 ABCC1 Nonsynonymous SNV G844S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 152861 chr15 22945064 22945064 G A CYFIP1 Nonsynonymous SNV E257K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 152862 chr17 71348672 71348672 C G SDK2 Nonsynonymous SNV V1900L 0.002 0 0 0 2 0 0 0 0 0 0 0 31 152863 chr19 54754684 54754684 T A rs534134163 LILRB5 Nonsynonymous SNV E481V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.01 152864 chr15 34123249 34123249 C A rs757214631 RYR3 Nonsynonymous SNV A3802E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.91 152865 chr17 72560385 72560385 C T rs547844356 CD300H, LOC100130520 Nonsynonymous SNV V31M 0.002 0 0 0 2 0 0 0 0 0 0 0 8.067 152866 chr4 83372386 83372386 G A rs148501831 ENOPH1 Nonsynonymous SNV R38H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.28 152867 chr17 7466407 7466407 T C rs531182939 SENP3 Nonsynonymous SNV I5T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.618 152868 chr17 72889684 72889684 - A rs748798085 FADS6 Frameshift insertion T4Yfs*264 0.002 0 0 0 2 0 0 0 0 0 0 0 152869 chr17 72889685 72889685 - GTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA FADS6 Frameshift insertion A16Tfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 152870 chr17 72915573 72915573 G A rs372580540 USH1G Nonsynonymous SNV P350L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 152871 chr6 7565729 7565729 C T rs148395326 DSP Synonymous SNV I305I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 20.5 152872 chr4 87643399 87643399 A G rs368598120 PTPN13 Nonsynonymous SNV I474V 0 0.005 0 3 0 2 0.008 0 0 0 0 0 5.479 152873 chr11 6568278 6568278 A G rs146014217 DNHD1 Nonsynonymous SNV S2037G 0.002 0 0.017 2 2 0 0.005 5 0 0 0 0 Likely benign 19.88 152874 chr6 10924838 10924838 A G SYCP2L Synonymous SNV S394S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.276 152875 chr11 6588408 6588408 A C rs375106372 DNHD1 Nonsynonymous SNV D3890A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 152876 chr15 40902497 40902497 T C rs200451358 KNL1 0.002 0 0 0 2 0 0 0 1 0 0 0 23 152877 chr17 38320255 38320255 C A CASC3 Nonsynonymous SNV P436Q 0 0.008 0 0 0 3 0 0 0 0 0 0 18.22 152878 chr19 55853624 55853624 C T rs781359695 KMT5C Nonsynonymous SNV A51V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 152879 chr16 27448995 27448995 C T rs201430379 IL21R Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.164 152880 chr11 6643935 6643935 C T rs200152314 DCHS1 Nonsynonymous SNV R2991Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 152881 chr4 98633911 98633911 A G rs17026871 STPG2 Nonsynonymous SNV V420A 0 0 0 3 0 0 0.008 0 0 0 0 0 11.73 152882 chr6 134492865 134492865 G A rs146894538 SGK1 Synonymous SNV L220L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.57 152883 chr17 74077661 74077661 C T rs143332874 ZACN Synonymous SNV I235I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.5 152884 chr17 74273330 74273330 T G rs747304225 QRICH2 Nonsynonymous SNV T1561P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 152885 chr16 30390417 30390417 T C rs142100728 SEPTIN1 Nonsynonymous SNV D288G 0.009 0.01 0.003 0 11 4 0 1 0 0 0 0 32 152886 chr4 102783776 102783776 C T rs141602182 BANK1 Nonsynonymous SNV R107W 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 152887 chr16 30390818 30390818 A C rs137903946 SEPTIN1 Nonsynonymous SNV V238G 0.009 0.01 0.003 0 11 4 0 1 0 0 0 0 25 152888 chr16 30567267 30567267 G C rs745627651 ZNF764 Nonsynonymous SNV R158G 0.001 0 0 0 1 0 0 0 0 0 0 0 21 152889 chr17 58740548 58740548 - G PPM1D Frameshift insertion I486Dfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 152890 chr17 78247124 78247124 C T rs9913317 RNF213 Nonsynonymous SNV P61L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 12.02 152891 chr17 60042435 60042435 T C rs9907648 MED13 Synonymous SNV L1592L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 0.007 152892 chr6 149862141 149862141 A C PPIL4 Nonsynonymous SNV I86M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 152893 chr17 78397381 78397381 G A rs114008153 ENDOV Synonymous SNV K110K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.75 152894 chr17 78445568 78445568 G A rs34937624 NPTX1 Synonymous SNV I347I 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 12.82 152895 chr17 39674754 39674754 A G KRT15 Nonsynonymous SNV M109T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 152896 chr17 76831481 76831481 C T rs149460713 USP36 Nonsynonymous SNV R119H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 152897 chr17 39872034 39872034 G A rs371500519 GAST Synonymous SNV P72P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.189 152898 chr16 3779162 3779162 G A rs370565083 CREBBP Synonymous SNV I1924I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.048 152899 chr6 152668272 152668272 C T rs148493518 SYNE1 Synonymous SNV A3929A 0.006 0 0.01 3 7 0 0.008 3 0 0 0 0 Benign/Likely benign 10.44 152900 chr11 76261028 76261028 C T rs140095466 EMSY Synonymous SNV S1270S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.382 152901 chr17 79973072 79973072 G T ASPSCR1 Nonsynonymous SNV R492M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 152902 chr11 76825456 76825456 C T rs140555115 CAPN5 Synonymous SNV G225G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 152903 chr11 76895654 76895654 G A rs782313913 MYO7A Nonsynonymous SNV G1133R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 152904 chr6 38084416 38084416 G A rs1024385178 ZFAND3 Nonsynonymous SNV E144K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.2 152905 chr17 8167850 8167850 C T rs150517282 PFAS Synonymous SNV S660S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.48 152906 chr17 8215590 8215590 C T ARHGEF15 Nonsynonymous SNV P78L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.27 152907 chr17 6930827 6930827 C G BCL6B Nonsynonymous SNV D443E 0.003 0 0 0 3 0 0 0 0 0 0 0 9.684 152908 chr17 79495937 79495937 C A FSCN2 Nonsynonymous SNV P127Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 152909 chr6 40400783 40400783 A T rs749345479 LRFN2 Nonsynonymous SNV Y24N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 152910 chr17 71238446 71238446 C - rs566291848 C17orf80 S527Pfs*5 0.004 0 0 0 5 0 0 0 0 0 0 0 152911 chr4 153691305 153691307 CAC - TIGD4 V284del 0 0 0 3 0 0 0.008 0 0 0 0 0 152912 chr17 79870419 79870419 G A rs753687472 SIRT7 Nonsynonymous SNV S359L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.79 152913 chr11 831585 831585 G A rs746463370 CRACR2B Nonsynonymous SNV R359Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.707 152914 chr18 21407372 21407372 G A rs201248742 LAMA3 Nonsynonymous SNV V922M 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 0.447 152915 chr6 43582176 43582176 C A rs151095678 POLH Nonsynonymous SNV S551Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.84 152916 chr17 45773512 45773512 C T TBKBP1 Synonymous SNV L12L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.66 152917 chr11 8642868 8642868 C T TRIM66 Nonsynonymous SNV V910I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 152918 chr15 73624487 73624487 G A rs148453034 HCN4 Synonymous SNV S452S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.47 152919 chr17 8021426 8021426 G A rs774187526 ALOXE3 Synonymous SNV A93A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.496 152920 chr7 780497 780497 G C rs142939429 DNAAF5 Synonymous SNV L274L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.268 152921 chr18 28611084 28611084 T A rs115758667 DSC3 Nonsynonymous SNV D70V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.31 152922 chr4 175224861 175224861 G A rs146429616 CEP44 Nonsynonymous SNV R82H 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 32 152923 chr15 76136785 76136785 T C rs745615700 UBE2Q2 Nonsynonymous SNV C31R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.394 152924 chr17 7320829 7320829 A G NLGN2 Nonsynonymous SNV E740G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25 152925 chr15 77471921 77471921 G A rs199682587 PEAK1 Nonsynonymous SNV T783I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.2 152926 chr7 2552881 2552881 - GATGGATG rs34637446 LFNG Frameshift insertion E56Gfs*144 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 152927 chr16 68961922 68961922 C T rs756116946 TANGO6 Nonsynonymous SNV T860I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 152928 chr4 184240740 184240740 A G rs978137056 CLDN22 Nonsynonymous SNV L211P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 152929 chr18 10704637 10704637 C T rs199842060 PIEZO2 Nonsynonymous SNV D1892N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.72 152930 chr18 33607175 33607175 T C rs757832415 RPRD1A Synonymous SNV Q195Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.193 152931 chr4 186294074 186294074 C T rs148413560 LRP2BP Nonsynonymous SNV G247R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 34 152932 chr15 83687552 83687552 A G rs112017737 BTBD1 Nonsynonymous SNV V370A 0.002 0.005 0.003 4 2 2 0.01 1 0 1 0 0 10.28 152933 chr12 101755760 101755760 C T rs760124429 UTP20 Synonymous SNV T1904T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 152934 chr16 74908238 74908238 G A rs762127264 WDR59 Nonsynonymous SNV R932W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 152935 chr17 4883761 4883761 C T rs143602830 CAMTA2 Nonsynonymous SNV A288T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 152936 chr12 104033910 104033910 G A rs12319476 STAB2 Nonsynonymous SNV E306K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27.6 152937 chr12 104139021 104139021 G A rs34154098 STAB2 Synonymous SNV T2034T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 152938 chr17 5264529 5264529 A G rs767018172 RABEP1 Synonymous SNV S331S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.425 152939 chr7 12417400 12417400 A G VWDE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 152940 chr17 5290059 5290059 G A rs764971841 NUP88 Stop gain R727X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 152941 chr18 22807531 22807531 T C ZNF521 Synonymous SNV P117P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.044 152942 chr12 107364963 107364963 G A TMEM263 Nonsynonymous SNV A49T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 152943 chr18 28720215 28720215 A G DSC1 Nonsynonymous SNV I437T 0.006 0.01 0 0 7 4 0 0 0 0 0 0 9.55 152944 chr16 84035456 84035456 C T rs145718913 NECAB2 Nonsynonymous SNV A338V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 152945 chr12 109719559 109719559 C T rs61741949 FOXN4 Nonsynonymous SNV R316H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 27.5 152946 chr7 23300351 23300351 C T rs146578444 GPNMB Nonsynonymous SNV P326L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.876 152947 chr17 7671351 7671351 G A rs141149043 DNAH2 Nonsynonymous SNV R1270H 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 32 152948 chr12 110944441 110944441 A C rs201423075 RAD9B Synonymous SNV R39R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.25 152949 chr12 111375044 111375044 T A rs116796218 LINC01405 0 0 0.007 0 0 0 0 2 0 0 0 0 4.615 152950 chr19 9071596 9071596 G T rs146343030 MUC16 Nonsynonymous SNV L5284I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.022 152951 chr17 57760000 57760000 G A rs148113473 CLTC Nonsynonymous SNV R1208H 0 0.005 0 0 0 2 0 0 0 0 0 0 26 152952 chr15 89453043 89453043 G A rs34449331 MFGE8 Nonsynonymous SNV A62V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.208 152953 chr12 112757295 112757295 C T rs979513289 HECTD4 Synonymous SNV S143S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.637 152954 chr15 90209060 90209060 G C rs767087068 PLIN1 Synonymous SNV A441A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 152955 chr12 113382410 113382410 C G rs377209699 OAS3 Nonsynonymous SNV A197G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 152956 chr18 61232711 61232711 A G rs35582068 SERPINB12 Nonsynonymous SNV K247E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.002 152957 chr18 61233892 61233892 A C rs35352345 SERPINB12 Nonsynonymous SNV N309T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.2 152958 chr18 61565014 61565014 C T rs6106 SERPINB2 Synonymous SNV D157D 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 11.98 152959 chr18 61582816 61582816 G A rs35743864 SERPINB10 Synonymous SNV Q24Q 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 2.982 152960 chr15 90768389 90768389 G A rs201828607 SEMA4B Nonsynonymous SNV D324N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 152961 chr5 31799531 31799531 C G PDZD2 Nonsynonymous SNV P59R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.41 152962 chr15 91346877 91346877 A G BLM Nonsynonymous SNV N1162S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 152963 chr17 78350165 78350165 G A rs150148627 RNF213 Nonsynonymous SNV R4417H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 0.088 152964 chr17 63526193 63526193 C T rs147134295 AXIN2 Synonymous SNV E746E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 14.13 152965 chr17 63554536 63554536 C T rs138056036 AXIN2 Nonsynonymous SNV R68Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 25 152966 chr12 120584910 120584910 C T rs118078431 GCN1 Synonymous SNV T1631T 0 0.003 0.017 1 0 1 0.003 5 0 0 0 0 18.82 152967 chr18 70461400 70461400 G A rs775844376 NETO1 Synonymous SNV S197S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 7.066 152968 chr18 712374 712374 T G rs574569143 ENOSF1 Nonsynonymous SNV S72R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.36 152969 chr18 72114390 72114390 G A rs753991540 DIPK1C Synonymous SNV R109R 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 10.82 152970 chr16 1035156 1035156 G A rs767333361 SOX8 Nonsynonymous SNV A371T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.952 152971 chr5 37310730 37310730 G C rs201980453 NUP155 Nonsynonymous SNV A792G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 152972 chr5 37310731 37310731 C G rs749163402 NUP155 Nonsynonymous SNV A792P 0 0 0 1 0 0 0.003 0 0 0 0 0 33 152973 chr6 109867303 109867303 C T rs372975856 AK9 Nonsynonymous SNV G998S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 152974 chr16 11864642 11864642 G A ZC3H7A Stop gain R369X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 152975 chr16 11876203 11876203 T A rs1429077 ZC3H7A Nonsynonymous SNV N3I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 152976 chr18 77805945 77805945 G T rs747001653 RBFA Nonsynonymous SNV Q274H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.111 152977 chr12 123042181 123042181 C A rs778452685 KNTC1 Nonsynonymous SNV A478D 0 0 0.003 0 0 0 0 1 0 0 0 0 31 152978 chr18 56247242 56247242 C G rs776542263 ALPK2 Nonsynonymous SNV G256R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.265 152979 chr16 89262446 89262446 G C rs902555346 SLC22A31 Synonymous SNV S416S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 152980 chr5 50090844 50090844 G A rs756134489 PARP8 Nonsynonymous SNV G341S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 152981 chr7 48313341 48313341 G A rs141067757 ABCA13 Nonsynonymous SNV D1360N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.651 152982 chr16 12798607 12798607 A G rs188370439 CPPED1 Nonsynonymous SNV C197R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 152983 chr7 48528895 48528895 T C ABCA13 Synonymous SNV L4415L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.631 152984 chr12 12483491 12483491 G T rs780476498 MANSC1 Nonsynonymous SNV P256T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.537 152985 chr17 80790241 80790241 A G rs760879014 ZNF750 Synonymous SNV C30C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.959 152986 chr16 90037923 90037923 A G CENPBD1 Synonymous SNV H136H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 152987 chr16 14676099 14676099 G A rs200644588 PARN Synonymous SNV H331H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 10.62 152988 chr17 8132152 8132152 C A CTC1 Nonsynonymous SNV A1094S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 152989 chr12 125438729 125438729 T C DHX37 Nonsynonymous SNV R828G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.22 152990 chr17 1028566 1028566 G A rs143549153 ABR Synonymous SNV G20G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 2.043 152991 chr19 10305549 10305549 C T DNMT1 Synonymous SNV R9R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.05 152992 chr16 1547054 1547054 G A rs758024477 TELO2 Nonsynonymous SNV V211M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 152993 chr1 1149489 1149489 G A rs572497059 TNFRSF4 Nonsynonymous SNV R7W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 21 152994 chr17 11532791 11532791 G A rs200171758 DNAH9 Nonsynonymous SNV V470I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.12 152995 chr19 10439378 10439378 G A rs201049445 RAVER1 Synonymous SNV F232F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.878 152996 chr12 132627284 132627284 G A rs775211652 DDX51 Nonsynonymous SNV S220F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.206 152997 chr18 12680724 12680724 G A CEP76 Nonsynonymous SNV A334V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 152998 chr17 15877994 15877994 T C ADORA2B Nonsynonymous SNV Y113H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 152999 chr17 72863086 72863086 A G rs766455383 FDXR Synonymous SNV S73S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.578 153000 chr6 134583251 134583251 C T SGK1 Synonymous SNV V35V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.01 153001 chr12 133250273 133250273 T C rs769440679 POLE Nonsynonymous SNV Y416C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 153002 chr6 137245800 137245800 A C rs199789519 SLC35D3 Nonsynonymous SNV Y406S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.778 153003 chr6 139456761 139456761 T C rs185694700 HECA Synonymous SNV A76A 0.002 0.005 0 0 2 2 0 0 1 1 0 0 2.768 153004 chr6 142741207 142741207 C T ADGRG6 Synonymous SNV F1067F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.664 153005 chr16 1967982 1967982 - G rs573199046 HS3ST6 Frameshift insertion D115Rfs*8 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 153006 chr17 17900819 17900819 T C DRC3 Synonymous SNV Y290Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.864 153007 chr16 2049857 2049857 G C rs368080086 ZNF598 Nonsynonymous SNV L565V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.578 153008 chr19 12155493 12155493 C T rs535460885 ZNF878 Synonymous SNV S241S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.77 153009 chr6 147103173 147103173 G A ADGB Nonsynonymous SNV E1294K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 153010 chr17 18181667 18181667 T G rs139139309 TOP3A Nonsynonymous SNV K622Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 153011 chr5 78076320 78076320 C T rs190643827 ARSB Nonsynonymous SNV R501H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.4 153012 chr16 20996988 20996988 C T rs150141933 DNAH3 Nonsynonymous SNV R2313Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.2 153013 chr1 1275549 1275549 G A DVL1 Nonsynonymous SNV H260Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 153014 chr17 19315938 19315938 G A RNF112 Nonsynonymous SNV D75N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 153015 chr17 74272770 74272770 G A rs147137634 QRICH2 Stop gain R1616X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 153016 chr19 13054560 13054560 G A CALR Nonsynonymous SNV E363K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 153017 chr12 21721886 21721886 G A rs121918419 GYS2 Stop gain R246X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 39 153018 chr19 1360408 1360408 C T rs117812723 PWWP3A Nonsynonymous SNV S95L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.186 153019 chr19 1360981 1360981 C T rs183898700 PWWP3A Nonsynonymous SNV A286V 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 1.468 153020 chr19 1370741 1370741 G A rs199763366 PWWP3A Synonymous SNV L482L 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 5.564 153021 chr19 14164757 14164757 G A rs376517493 PALM3 Nonsynonymous SNV P510L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.261 153022 chr16 24802366 24802366 G A rs139212478 TNRC6A Synonymous SNV Q801Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.045 153023 chr16 24902246 24902246 G A SLC5A11 Nonsynonymous SNV A171T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 153024 chr19 10663588 10663588 C T rs769398498 ATG4D Nonsynonymous SNV R361W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 29.7 153025 chr16 27460037 27460037 C A rs755746046 IL21R Nonsynonymous SNV S350R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 11.89 153026 chr19 1475258 1475258 C G rs201353187 C19orf25 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.9 153027 chr17 75202938 75202938 G A rs752171936 SEC14L1 Synonymous SNV E456E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.01 153028 chr16 28601755 28601755 C T rs145340852 SGF29 Synonymous SNV A186A 0.003 0 0.007 4 3 0 0.01 2 0 0 0 0 11.48 153029 chr18 39570440 39570440 T G rs144017818 PIK3C3 Synonymous SNV S149S 0.003 0 0 0 4 0 0 0 0 0 0 0 7.649 153030 chr6 155577865 155577865 T A rs1571767 TIAM2 Nonsynonymous SNV D497E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 5.289 153031 chr12 32137435 32137435 C T rs201298661 RESF1 Synonymous SNV Y1182Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.58 153032 chr16 3017231 3017231 C G KREMEN2 Nonsynonymous SNV L282V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 153033 chr19 11577002 11577002 C T rs773993031 ELAVL3 Synonymous SNV Q106Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.62 153034 chr19 15569199 15569199 G A rs201405564 RASAL3 Synonymous SNV R276R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.85 153035 chr16 30537352 30537352 C T ZNF768 Nonsynonymous SNV E37K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 153036 chr17 2238874 2238874 T C rs376309349 TSR1 Nonsynonymous SNV N118D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 153037 chr16 30776366 30776366 C T rs146029900 RNF40 Nonsynonymous SNV R253C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 153038 chr18 46476648 46476648 C T rs368427729 SMAD7 Synonymous SNV G49G 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 4.434 153039 chr5 92923867 92923867 C T rs372227484 NR2F1 Synonymous SNV N236N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 12.66 153040 chr16 30991346 30991346 C T rs759173261 SETD1A Synonymous SNV R1413R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 153041 chr12 44782177 44782177 C T rs140040983 TMEM117 Nonsynonymous SNV R319C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 153042 chr17 26695039 26695039 C T rs782653676 VTN Nonsynonymous SNV G341S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 153043 chr16 31734059 31734059 A G rs768930887 ZNF720 Nonsynonymous SNV N39S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 153044 chr1 154002437 154002437 T C rs199925328 NUP210L Nonsynonymous SNV M1264V 0.003 0 0 0 3 0 0 0 0 0 0 0 3.131 153045 chr16 3712016 3712016 G T rs147600197 TRAP1 Nonsynonymous SNV L585M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 153046 chr19 1466145 1466145 G A rs61735597 APC2 Nonsynonymous SNV A948T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.546 153047 chr19 1467278 1467278 G A rs145970006 APC2 Synonymous SNV A1325A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.425 153048 chr12 49412590 49412590 T C DDN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.759 153049 chr12 49491748 49491748 C T LMBR1L Nonsynonymous SNV A403T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 153050 chr19 1469078 1469078 G A rs79021820 APC2 Synonymous SNV S1925S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.82 153051 chr12 50367020 50367020 G T rs570185132 AQP6 Nonsynonymous SNV A22S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.564 153052 chr12 50501397 50501397 C T rs141014044 GPD1 Synonymous SNV G197G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 153053 chr12 50744577 50744577 C T FAM186A Nonsynonymous SNV R2013K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.116 153054 chr16 4797567 4797567 G T rs772634343 C16orf71 Nonsynonymous SNV D502Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 153055 chr17 79163758 79163758 G A rs74006007 CEP131 Nonsynonymous SNV A1006V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.4 153056 chr19 14991507 14991507 T C rs112660270 OR7A17 Nonsynonymous SNV I221V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 153057 chr17 79174182 79174182 G A rs3803764 CEP131 Nonsynonymous SNV R285W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.1 153058 chr17 79193702 79193702 C T rs76860463 CEP131 Nonsynonymous SNV S52N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.116 153059 chr1 156500081 156500081 C T rs768730139 IQGAP3 Nonsynonymous SNV R1407Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 153060 chr17 79202873 79202873 G T rs138356179 TEPSIN Nonsynonymous SNV A478D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.7 153061 chr17 34091213 34091213 A G rs768573818 C17orf50 Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.361 153062 chr5 125939613 125939613 G A rs370070252 PHAX Nonsynonymous SNV E150K 0 0 0 2 0 0 0.005 0 0 0 0 0 32 153063 chr7 1481863 1481863 G A rs778243037 MICALL2 Nonsynonymous SNV P559L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 153064 chr16 49407945 49407945 C T C16orf78 Nonsynonymous SNV T32I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 153065 chr7 2054242 2054242 G C rs552851020 MAD1L1 Stop gain Y326X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 153066 chr5 127599209 127599209 C T rs138659121 FBN2 Synonymous SNV S2700S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.05 153067 chr1 156628363 156628363 C G rs201730433 BCAN Synonymous SNV P822P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 153068 chr16 50346084 50346084 C T rs77617432 ADCY7 Synonymous SNV I862I 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 12.89 153069 chr17 35549123 35549123 G C rs146088438 ACACA Nonsynonymous SNV L1347V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 153070 chr16 50757228 50757228 A G rs201781416 NOD2 Nonsynonymous SNV I912V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 17.11 153071 chr17 3567516 3567516 C G rs150166987 TAX1BP3 Synonymous SNV G70G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 153072 chr1 156641762 156641763 TC - rs779024455 NES N740Sfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 153073 chr19 1567628 1567628 G A rs557176042 MEX3D Nonsynonymous SNV P144S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.56 153074 chr17 35913521 35913521 A G SYNRG Synonymous SNV P607P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.595 153075 chr17 79993919 79993919 C T rs61746217 DCXR Nonsynonymous SNV A216T 0.004 0.008 0.01 7 5 3 0.018 3 0 0 0 0 7.241 153076 chr16 53337663 53337663 C A rs373584632 CHD9 Synonymous SNV P1915P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.59 153077 chr17 80013662 80013662 C T rs377758972 GPS1 Synonymous SNV C265C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.65 153078 chr16 53358080 53358080 A G CHD9 Nonsynonymous SNV N2656S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.71 153079 chr16 54319077 54319077 T C rs766444262 IRX3 Nonsynonymous SNV D239G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.5 153080 chr19 18284702 18284702 G - rs764788458 IFI30 D18Tfs*15 0.002 0.01 0.003 1 2 4 0.003 1 0 0 0 0 153081 chr5 132736547 132736547 C T rs141340168 FSTL4 Nonsynonymous SNV V98M 0 0 0 2 0 0 0.005 0 0 0 0 0 0.077 153082 chr16 56226583 56226583 G A rs554486578 DKFZP434H168 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 7.492 153083 chr18 72997971 72997971 A G rs148319172 TSHZ1 Synonymous SNV A203A 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Likely benign 0.002 153084 chr7 6628262 6628262 T G rs553106277 ZDHHC4 Synonymous SNV T252T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.695 153085 chr17 80478087 80478087 G A rs754869277 FOXK2 Nonsynonymous SNV G108D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 153086 chr12 542377 542377 A G rs142267796 CCDC77 Nonsynonymous SNV K205R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 153087 chr12 54349241 54349241 C G rs189468720 HOXC12 Nonsynonymous SNV N176K 0.003 0 0.01 0 4 0 0 3 0 0 0 0 25.2 153088 chr17 8052915 8052915 C T rs74795714 PER1 Nonsynonymous SNV V240I 0.005 0.008 0.01 0 6 3 0 3 0 0 0 0 Likely benign 0.012 153089 chr18 7774187 7774187 T C rs771614582 PTPRM Synonymous SNV Y38Y 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 4.492 153090 chr5 140182919 140182919 C T rs782428668 PCDHA3 Nonsynonymous SNV L713F 0 0 0 3 0 0 0.008 0 0 0 0 0 24.4 153091 chr19 17212572 17212572 G A rs368743832 MYO9B Synonymous SNV A15A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 153092 chr12 55968994 55968994 G C rs17117692 OR2AP1 Nonsynonymous SNV D266H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 153093 chr12 55969028 55969028 C T rs17117696 OR2AP1 Nonsynonymous SNV T277I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 153094 chr12 56030921 56030921 G A rs7305623 OR10P1 Synonymous SNV L82L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.42 153095 chr12 56031338 56031338 C T rs77750365 OR10P1 Synonymous SNV R221R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.135 153096 chr12 56075915 56075915 C A rs75289684 METTL7B Nonsynonymous SNV P126H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.07 153097 chr12 56077768 56077768 C T rs115687886 METTL7B Stop gain R224X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 36 153098 chr12 56217214 56217214 T G DNAJC14 Nonsynonymous SNV N496H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 153099 chr1 160277001 160277001 G A rs143948659 COPA Synonymous SNV A418A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 153100 chr12 56230885 56230885 G T rs17118042 MMP19 Nonsynonymous SNV P488T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.008 153101 chr5 140756050 140756050 G T rs139873493 PCDHGA6 Synonymous SNV T800T 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 4.592 153102 chr1 160811374 160811374 C G rs115868021 CD244 Nonsynonymous SNV E127Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 153103 chr12 56822071 56822071 G A rs61752460 TIMELESS Synonymous SNV F508F 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 11.87 153104 chr19 23406232 23406232 T C ZNF724 Nonsynonymous SNV H272R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.252 153105 chr7 107566659 107566659 G A LAMB1 Nonsynonymous SNV T1678I 0.001 0 0 4 1 0 0.01 0 0 0 0 0 9.535 153106 chr16 67197069 67197069 G A FBXL8 Synonymous SNV A157A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 153107 chr5 140868835 140868835 G A rs146919978 PCDHGC5 Nonsynonymous SNV A10T 0 0 0 3 0 0 0.008 0 0 0 0 0 4.073 153108 chr12 57466600 57466600 T G rs61744355 NEMP1 Nonsynonymous SNV K75Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 153109 chr12 57492319 57492319 C G STAT6 Nonsynonymous SNV E600Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 153110 chr12 57578939 57578939 C T rs772516366 LRP1 Synonymous SNV I2138I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 153111 chr18 10773440 10773440 C T rs564867814 PIEZO2 Nonsynonymous SNV E894K 0.01 0.01 0 1 12 4 0.003 0 0 0 0 0 Uncertain significance 21.9 153112 chr19 2732875 2732875 G A rs766575439 SLC39A3 Synonymous SNV F273F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.493 153113 chr12 57662202 57662202 C T rs149171486 R3HDM2 Synonymous SNV P606P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 153114 chr16 69959355 69959355 A G rs143999663 WWP2 Nonsynonymous SNV H285R 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 16.8 153115 chr5 145838635 145838635 - CAGGCCCAGGCC rs747040868 TCERG1 Q242_V243insAQAQ 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 153116 chr5 146258290 146258290 - GCTGCTGCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSSSS 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 153117 chr12 59283858 59283858 T C rs748838619 LRIG3 Synonymous SNV T133T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 153118 chr19 1053469 1053469 A C ABCA7 Nonsynonymous SNV D1121A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 153119 chr5 147498055 147498055 G A rs755881402 SPINK5 Nonsynonymous SNV R723Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 31 153120 chr16 72160023 72160023 A C rs767575720 PMFBP1 Synonymous SNV L699L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 153121 chr12 662597 662597 C T rs148665138 B4GALNT3 Nonsynonymous SNV T503I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.174 153122 chr12 6682268 6682268 G A rs201751048 CHD4 Synonymous SNV N1836N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.05 153123 chr19 21216325 21216325 A G rs187005079 ZNF430 Nonsynonymous SNV T54A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 153124 chr7 44924323 44924323 C A rs766116038 PURB Nonsynonymous SNV G209W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 28 153125 chr12 72667332 72667332 G T TRHDE Nonsynonymous SNV E258D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 153126 chr12 7480908 7480908 A C rs762332028 ACSM4 Nonsynonymous SNV K561T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 153127 chr17 42157792 42157792 G A rs139098243 HDAC5 Synonymous SNV D935D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 153128 chr12 7526053 7526053 G C rs374489185 CD163L1 Nonsynonymous SNV S1208C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.227 153129 chr5 153765901 153765901 G A rs139262954 GALNT10 Nonsynonymous SNV A323T 0 0 0 2 0 0 0.005 0 0 0 0 0 34 153130 chr5 153857322 153857322 C A rs201302313 HAND1 Nonsynonymous SNV G83W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign/Likely benign 34 153131 chr17 42400868 42400868 C T rs199722360 SLC25A39 Synonymous SNV G21G 0.007 0.005 0 7 8 2 0.018 0 0 0 0 0 13.39 153132 chr16 83205150 83205150 C G CDH13 Nonsynonymous SNV C169W 0.001 0 0 0 1 0 0 0 0 0 0 0 3.736 153133 chr17 42811468 42811468 G A rs778471533 DBF4B Nonsynonymous SNV M189I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 153134 chr5 160059137 160059137 A G rs56340994 ATP10B Nonsynonymous SNV I540T 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 24.5 153135 chr16 84456076 84456076 C T rs369777857 ATP2C2 Synonymous SNV G84G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 153136 chr19 3762764 3762764 A G rs559988185 MRPL54 Synonymous SNV L22L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.16 153137 chr7 50135994 50135994 G T rs1000928197 SPATA48 Nonsynonymous SNV D105Y 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 25.4 153138 chr12 89917437 89917437 C T rs184795006 GALNT4, POC1B-GALNT4 Nonsynonymous SNV R297Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 153139 chr19 35085422 35085422 C A SCGB2B2 Nonsynonymous SNV C16F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 153140 chr16 87637897 87637902 CTGCTG - JPH3 A156_A157del 0.001 0 0 0 1 0 0 0 0 0 0 0 153141 chr19 38708132 38708132 G A DPF1 Nonsynonymous SNV A259V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.09 153142 chr19 38881064 38881064 G C rs780044829 SPRED3 Nonsynonymous SNV G41A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.57 153143 chr19 3594971 3594971 G C rs201880077 TBXA2R Nonsynonymous SNV R363G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 153144 chr17 48263001 48263001 G A rs144134990 COL1A1 Synonymous SNV T1419T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.454 153145 chr19 3982517 3982517 G T SNORD37 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.305 153146 chr19 3982518 3982518 C A rs757067511 SNORD37 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.428 153147 chr19 36218440 36218440 G A rs186268702 KMT2B Nonsynonymous SNV G1407R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 153148 chr18 61471593 61471593 A G rs11873045 SERPINB7 Synonymous SNV Q272Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.02 153149 chr7 73462020 73462020 C A ELN Nonsynonymous SNV P176H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 153150 chr18 61621663 61621663 G A rs117841082 HMSD Nonsynonymous SNV G32R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.54 153151 chr19 36497387 36497387 G A rs147433902 SYNE4 Synonymous SNV L156L 0.009 0.008 0.003 5 11 3 0.013 1 0 0 0 0 Benign/Likely benign 3.097 153152 chr19 36498114 36498114 G A rs368669131 SYNE4 Synonymous SNV C112C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.299 153153 chr18 66382200 66382200 A G rs117138050 TMX3 Nonsynonymous SNV W7R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 153154 chr13 103249460 103249460 C G rs780120613 TPP2 Synonymous SNV A24A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 153155 chr1 183861223 183861223 G C rs141815891 RGL1 Synonymous SNV L354L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.69 153156 chr1 18807551 18807551 G A rs201286096 KLHDC7A Nonsynonymous SNV A26T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 153157 chr18 72103863 72103863 G A rs17089289 DIPK1C Nonsynonymous SNV A378V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.1 153158 chr19 19648305 19648305 C G rs200631877 YJEFN3 Nonsynonymous SNV T241R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 153159 chr19 4310509 4310509 G A rs754522407 FSD1 Nonsynonymous SNV A136T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 153160 chr1 19426978 19426978 C T rs200835570 UBR4 Synonymous SNV P4371P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.78 153161 chr17 10533692 10533692 C T rs762362343 MYH3 Synonymous SNV T1790T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 153162 chr7 97847025 97847025 G A rs372020510 TECPR1 Synonymous SNV H1121H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.68 153163 chr17 59968959 59968959 G C INTS2 Nonsynonymous SNV T597S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 153164 chr1 200973527 200973527 G A rs146712800 KIF21B Synonymous SNV H319H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.1 153165 chr19 24102851 24102851 A G rs182291108 ZNF726 Nonsynonymous SNV M65V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.109 153166 chr17 61607850 61607850 G A rs746553730 KCNH6 Nonsynonymous SNV A208T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 153167 chr6 11191375 11191375 A G rs144242924 NEDD9 Nonsynonymous SNV F94L 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 17.02 153168 chr19 39691097 39691097 G A NCCRP1 Synonymous SNV G220G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.657 153169 chr19 33291210 33291210 C T rs140337503 TDRD12 Synonymous SNV P632P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 6.639 153170 chr19 33351538 33351538 G A rs146682721 SLC7A9 Synonymous SNV I241I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 6.396 153171 chr19 40886748 40886748 C T rs765261216 HIPK4 Nonsynonymous SNV V384M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.446 153172 chr8 22020679 22020679 C T rs79866047 SFTPC Synonymous SNV I43I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 12.49 153173 chr19 1059049 1059049 G A ABCA7 Nonsynonymous SNV V1810I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26 153174 chr17 17717013 17717013 G A rs200944690 SREBF1 Nonsynonymous SNV P967L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 153175 chr13 38225498 38225498 C T rs150355444 TRPC4 Synonymous SNV P488P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 153176 chr17 18022937 18022937 G C rs183969516 MYO15A Nonsynonymous SNV G275R 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Uncertain significance 15.45 153177 chr8 23012449 23012449 G A TNFRSF10D Nonsynonymous SNV P65L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.82 153178 chr17 19318182 19318182 G A rs745679923 RNF112 Nonsynonymous SNV G370S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.23 153179 chr17 19480674 19480674 C T rs202161502 SLC47A1 Synonymous SNV N507N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.727 153180 chr8 25042444 25042444 C G DOCK5 Synonymous SNV T7T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.374 153181 chr1 204418411 204418411 C T rs114917235 PIK3C2B Nonsynonymous SNV G750S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 33 153182 chr19 36018219 36018219 G A rs202036328 SBSN Nonsynonymous SNV A322V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 153183 chr7 100551314 100551314 C T rs79779043 MUC3A Nonsynonymous SNV A632V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 153184 chr19 36211277 36211277 G A rs200396386 KMT2B Nonsynonymous SNV R343K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.313 153185 chr19 36228773 36228773 C T rs750720191 KMT2B Synonymous SNV L2558L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.805 153186 chr6 29705772 29705772 T C rs1736911 HLA-F-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.215 153187 chr19 46280742 46280742 G A rs777077770 DMPK Nonsynonymous SNV A241V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.861 153188 chr19 36592570 36592570 G A rs757294519 WDR62 Synonymous SNV S992S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.635 153189 chr17 7247909 7247909 C A ACAP1 Nonsynonymous SNV L266M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 153190 chr17 7258917 7258917 T C TMEM95 Nonsynonymous SNV M61T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 153191 chr6 33746029 33746029 G A rs764798142 LEMD2 Synonymous SNV I80I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 17.15 153192 chr8 41467184 41467184 A G rs62509819 GPAT4 Synonymous SNV A82A 0.009 0.003 0.007 5 10 1 0.013 2 0 0 0 0 Benign 9.098 153193 chr17 73231278 73231278 T A rs779325414 NUP85 Synonymous SNV S571S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.789 153194 chr13 99567679 99567679 C A rs762344306 DOCK9 Nonsynonymous SNV V267L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 153195 chr8 52321258 52321258 G A PXDNL Nonsynonymous SNV R976W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.7 153196 chr7 100679782 100679782 A G rs772144437 MUC17 Nonsynonymous SNV I1695M 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 153197 chr6 37617893 37617893 T C rs747716336 MDGA1 Nonsynonymous SNV N534S 0 0 0 3 0 0 0.008 0 0 0 0 0 14.86 153198 chr14 101506406 101506406 G T MIR376A2 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 153199 chr14 102481619 102481619 C T rs141525226 DYNC1H1 Nonsynonymous SNV R2398C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 153200 chr6 39158762 39158762 G A rs33997135 KCNK5 Synonymous SNV S468S 0 0 0 3 0 0 0.008 0 0 0 0 0 12.16 153201 chr14 103406051 103406051 C G rs139323146 CDC42BPB Nonsynonymous SNV D1575H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 153202 chr14 103406055 103406055 A C rs150003464 CDC42BPB Synonymous SNV L1573L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.508 153203 chr6 39864751 39864751 C G rs749112544 DAAM2 Nonsynonymous SNV I835M 0 0 0 3 0 0 0.008 0 0 0 0 0 24.2 153204 chr6 41036661 41036661 G A OARD1 Nonsynonymous SNV T92I 0.003 0 0 4 4 0 0.01 0 0 0 0 0 29.5 153205 chr6 41036663 41036663 - G OARD1 Frameshift insertion T92Nfs*3 0.003 0 0 4 4 0 0.01 0 0 0 0 0 153206 chr7 104782597 104782597 C T rs139060250 SRPK2 Synonymous SNV S456S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.69 153207 chr7 105182891 105182891 C G rs777242801 RINT1 Nonsynonymous SNV R26G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 19.16 153208 chr19 46274258 46274258 G A DMPK Nonsynonymous SNV H580Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 153209 chr17 7637610 7637610 G C DNAH2 Nonsynonymous SNV E246D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 153210 chr17 76475180 76475180 G A rs202080844 DNAH17 Nonsynonymous SNV T2640M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.919 153211 chr8 95403842 95403842 T C rs758598200 RAD54B Nonsynonymous SNV I418V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 153212 chr14 105936288 105936288 C T rs149260021 MTA1 Synonymous SNV D652D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.9 153213 chr14 105939641 105939641 G A rs781891130 CRIP2 Synonymous SNV E19E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.258 153214 chr14 106744327 106744327 C T rs143047456 LINC00226 0 0 0.007 0 0 0 0 2 0 0 0 0 3.045 153215 chr8 96275939 96275939 C T rs757821731 C8orf37 Synonymous SNV E73E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.4 153216 chr19 42131981 42131981 C T rs118076769 CEACAM4 Nonsynonymous SNV V140I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.1 153217 chr1 2237570 2237570 A G SKI Nonsynonymous SNV M627V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.04 153218 chr17 77768650 77768650 C T rs530952829 CBX8 Synonymous SNV G318G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.605 153219 chr19 48647192 48647192 C A LIG1 Nonsynonymous SNV A201S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.43 153220 chr17 78175608 78175608 C T rs79407194 CARD14 Synonymous SNV A639A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.39 153221 chr19 4891283 4891283 G A rs146420193 ARRDC5 Synonymous SNV V254V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.827 153222 chr19 49131495 49131495 C T rs1043398066 SPHK2 Nonsynonymous SNV S242L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 153223 chr19 49218656 49218656 C T rs750520557 MAMSTR Synonymous SNV G96G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.74 153224 chr17 79507920 79507920 G T rs147650251 FAAP100 Synonymous SNV A857A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.639 153225 chr19 44531225 44531225 G C rs775938648 ZNF222 Synonymous SNV L31L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.344 153226 chr14 24620359 24620359 C G RNF31 Nonsynonymous SNV A352G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 153227 chr6 74304853 74304853 T C SLC17A5 Nonsynonymous SNV K479E 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 13.31 153228 chr14 31597882 31597882 A G rs200735609 HECTD1 Synonymous SNV N1565N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 153229 chr19 53856008 53856008 A G rs745634476 ZNF845 Nonsynonymous SNV N694D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.899 153230 chr7 143792424 143792424 G A rs747782788 OR2A12 Nonsynonymous SNV S75N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.073 153231 chr19 54599314 54599314 C G rs142964852 OSCAR Nonsynonymous SNV V149L 0.006 0.003 0.003 3 7 1 0.008 1 1 0 0 0 21.2 153232 chr14 36004303 36004303 G A rs775414029 INSM2 Nonsynonymous SNV R282H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 153233 chr19 50963308 50963308 C - rs551646784 MYBPC2 Stop gain I937* 0.003 0 0 0 3 0 0 0 0 0 0 0 153234 chr19 54651928 54651928 C T rs138658963 CNOT3 Nonsynonymous SNV P314S 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 13.39 153235 chr6 84798956 84798956 G A rs115655382 MRAP2 Nonsynonymous SNV R39H 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 0 Likely benign 16.94 153236 chr1 237058715 237058715 A G rs369154176 MTR Nonsynonymous SNV S1104G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.21 153237 chr7 149511595 149511595 A G rs531332105 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 0.51 153238 chr19 51628873 51628873 C A rs273687 SIGLEC9 Nonsynonymous SNV N147K 0.005 0 0.014 0 6 0 0 4 0 0 0 0 13.61 153239 chr19 45901359 45901359 C T PPP1R13L Synonymous SNV T34T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.76 153240 chr19 55739833 55739833 G A rs199755006 TMEM86B Synonymous SNV F7F 0.004 0 0 3 5 0 0.008 0 0 0 0 0 7.339 153241 chr17 42934446 42934446 T C rs144798973 EFTUD2 Nonsynonymous SNV K646R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 153242 chr19 55966693 55966693 G A rs574543639 ISOC2 Nonsynonymous SNV T48M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 25.7 153243 chr6 112390731 112390731 T C CCN6 Nonsynonymous SNV F325L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24 153244 chr14 59961943 59961943 G A JKAMP 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 153245 chr14 60444773 60444773 C T rs1010569674 LRRC9 Nonsynonymous SNV R601W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 153246 chr19 56153880 56153880 G A ZNF580 Synonymous SNV L2L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.44 153247 chr14 62205061 62205061 C T rs149282253 HIF1A Synonymous SNV S526S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 16.22 153248 chr18 31673490 31673490 A G NOL4 Synonymous SNV D237D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.648 153249 chr8 2823339 2823339 T C rs767763182 CSMD1 Nonsynonymous SNV T3080A 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 11.14 153250 chr19 49132581 49132581 G T rs145253804 SPHK2 Nonsynonymous SNV A470S 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 Benign 0.26 153251 chr18 32844197 32844197 G C rs199923382 ZSCAN30 Nonsynonymous SNV N40K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.6 153252 chr19 49173693 49173693 G A rs142926977 NTN5 Nonsynonymous SNV P184L 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 153253 chr6 118015281 118015281 T C rs1052237 NUS1 Nonsynonymous SNV L210S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.28 153254 chr19 53432250 53432250 C T rs187199729 ZNF816-ZNF321P Nonsynonymous SNV R203H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.621 153255 chr14 67854107 67854107 A G rs932842434 PLEK2 Nonsynonymous SNV I334T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 153256 chr14 68252643 68252643 C T ZFYVE26 Nonsynonymous SNV S1079N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 153257 chr18 43796346 43796346 G A rs762031397 C18orf25 Nonsynonymous SNV R167Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 153258 chr8 146033535 146033535 A G rs774096297 ZNF517 Nonsynonymous SNV T405A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 153259 chr6 132910773 132910773 T C TAAR5 Nonsynonymous SNV Y18C 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 153260 chr19 54675710 54675710 G C TMC4 Synonymous SNV T80T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.153 153261 chr19 50063919 50063919 T C rs754038546 NOSIP Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.896 153262 chr18 48513071 48513071 A G rs745901121 ELAC1 Synonymous SNV Q236Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.08 153263 chr6 137325788 137325788 G A rs139282838 IL20RA Synonymous SNV H167H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.251 153264 chr6 150038849 150038849 C T LOC645967 0 0.005 0 2 0 2 0.005 0 0 0 0 0 18.72 153265 chr9 19296056 19296056 A G rs538781954 DENND4C Synonymous SNV L284L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.036 153266 chr17 53042208 53042208 A G rs145197312 COX11 Synonymous SNV T124T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.022 153267 chr18 60021657 60021657 G C TNFRSF11A Nonsynonymous SNV S106T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 153268 chr19 59067511 59067511 C T UBE2M Nonsynonymous SNV R166H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 153269 chr17 56436127 56436127 C T rs138844366 RNF43 Nonsynonymous SNV R210Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 153270 chr18 64235692 64235692 C G rs146410943 CDH19 Nonsynonymous SNV E151Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 153271 chr17 56729355 56729355 C T rs73996253 TEX14 Nonsynonymous SNV R3Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.7 153272 chr14 94847286 94847286 T A rs121912714 SERPINA1 Nonsynonymous SNV D280V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity, other 24.5 153273 chr1 36787958 36787958 T C rs775569033 EVA1B Nonsynonymous SNV T146A 0.003 0.01 0 0 4 4 0 0 0 0 0 0 16.06 153274 chr6 157099981 157099981 - GGC rs797045286 ARID1B G319_S320insG 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 153275 chr18 71998124 71998124 A G C18orf63 Nonsynonymous SNV T150A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 153276 chr14 95598911 95598911 T C rs373646414 DICER1 Nonsynonymous SNV Y83C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 23.7 153277 chr19 56953511 56953511 T C rs61740676 ZNF667 Nonsynonymous SNV K285E 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 0.001 153278 chr14 96730047 96730047 C T rs139498601 BDKRB1 Nonsynonymous SNV L10F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 153279 chr8 28595053 28595053 G A EXTL3 Nonsynonymous SNV R765Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 34 153280 chr1 39715702 39715702 A G rs143548063 MACF1 Nonsynonymous SNV N100S 0.003 0.01 0.007 1 4 4 0.003 2 0 0 0 0 24.9 153281 chr18 72999495 72999495 C T rs138707336 TSHZ1 Synonymous SNV H711H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.157 153282 chr15 100214678 100214678 A G rs760615602 MEF2A Synonymous SNV P89P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.045 153283 chr18 74639433 74639433 G A rs117481741 ZNF236 Synonymous SNV P1458P 0.01 0.013 0.007 1 12 5 0.003 2 0 0 0 0 4.258 153284 chr17 6330327 6330327 A G rs62637017 AIPL1 Synonymous SNV H109H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.379 153285 chr1 41540902 41540902 G A rs143365597 SCMH1 Nonsynonymous SNV P155S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 153286 chr17 65026972 65026972 T C rs149010646 CACNG4 Nonsynonymous SNV L279P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 153287 chr1 43162318 43162318 G A rs189493094 YBX1 Synonymous SNV A120A 0.004 0.01 0 0 5 4 0 0 0 0 0 0 14.03 153288 chr19 5866635 5866635 T C rs758641430 FUT5 Nonsynonymous SNV S368G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 153289 chr19 5866639 5866641 CAC - rs776852707 FUT5 V366del 0.003 0 0 0 3 0 0 0 0 0 0 0 153290 chr19 5866642 5866642 C T rs542830434 FUT5 Synonymous SNV T365T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.39 153291 chr15 25277618 25277618 C A PWAR6 0 0 0.003 0 0 0 0 1 0 0 0 0 4.495 153292 chr1 43779054 43779054 G A rs375287811 TIE1 Nonsynonymous SNV G681R 0.001 0 0 0 1 0 0 0 0 0 0 0 28 153293 chr15 25496337 25496337 C T rs187228854 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 2.368 153294 chr17 6589649 6589649 T C rs764993670 SLC13A5 Synonymous SNV T482T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.84 153295 chr19 44934591 44934591 C T rs777755309 ZNF229 Nonsynonymous SNV C116Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 153296 chr15 31294506 31294506 C T rs569536909 TRPM1 Nonsynonymous SNV R1483Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.659 153297 chr8 59404192 59404192 C T rs755342899 CYP7A1 Nonsynonymous SNV E453K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 35 153298 chr19 58982475 58982475 A G rs762014538 ZNF324 Nonsynonymous SNV T206A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 153299 chr8 67976644 67976644 C A CSPP1 Nonsynonymous SNV P4Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.9 153300 chr19 59069679 59069679 T C UBE2M Nonsynonymous SNV S24G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 153301 chr15 33962696 33962696 A T rs199507912 RYR3 Nonsynonymous SNV K1933N 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Uncertain significance 18.83 153302 chr17 6920759 6920759 G A rs59954132 RNASEK-C17orf49 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.315 153303 chr19 1054312 1054312 G A rs533693695 ABCA7 Nonsynonymous SNV R1233H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 153304 chr19 4538218 4538218 G A rs150365846 LRG1 Nonsynonymous SNV R260W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.2 153305 chr1 47075769 47075769 T C rs41297853 MOB3C Nonsynonymous SNV M228V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 15.06 153306 chr9 100616695 100616715 GCCGCAGCCGCCGCCGCCGCC - FOXE1 A173_A179del 0.003 0 0 5 4 0 0.013 0 0 0 0 0 153307 chr15 40574607 40574607 C G ANKRD63 Nonsynonymous SNV A61P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 153308 chr19 11145613 11145613 C T rs144803359 SMARCA4 Synonymous SNV R1292R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.68 153309 chr8 87242140 87242140 A G rs149039785 SLC7A13 Nonsynonymous SNV F123L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 153310 chr7 1785228 1785228 C T rs182914423 ELFN1 Synonymous SNV T332T 0 0 0 3 0 0 0.008 0 0 0 0 0 3.824 153311 chr19 46198810 46198810 A C QPCTL Nonsynonymous SNV D156A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 153312 chr1 52822692 52822692 - T rs1028897045 CC2D1B Frameshift insertion M620Nfs*24 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 153313 chr19 11489061 11489061 G C EPOR Nonsynonymous SNV L376V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 153314 chr19 761648 761648 C T rs199913168 MISP Synonymous SNV D645D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.74 153315 chr15 41227314 41227314 C T rs35748882 DLL4 Synonymous SNV N413N 0.003 0 0.017 2 4 0 0.005 5 0 0 0 0 6.491 153316 chr19 11565602 11565602 G A rs532772287 ELAVL3 Synonymous SNV G281G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.638 153317 chr8 102701558 102701558 C T rs377687036 NCALD Synonymous SNV P187P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 15.16 153318 chr19 12738766 12738766 T C rs61737515 ZNF791 Synonymous SNV F141F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.244 153319 chr19 12760773 12760773 C T rs61234887 MAN2B1 Nonsynonymous SNV G741R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.5 153320 chr1 55119442 55119442 C T rs114952619 MROH7 Synonymous SNV S281S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 153321 chr9 107620809 107620809 T G rs541180138 ABCA1 Synonymous SNV P238P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 153322 chr19 55899631 55899631 C T rs375850431 RPL28 Synonymous SNV S115S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 153323 chr9 111617368 111617368 G A ACTL7B Synonymous SNV Y281Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.722 153324 chr19 48229196 48229196 T C EHD2 Synonymous SNV H210H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.383 153325 chr19 12817112 12817112 G T rs187872688 TNPO2 Synonymous SNV T522T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.269 153326 chr19 9324758 9324758 A G rs61732676 OR7D4 Synonymous SNV Y252Y 0.009 0.005 0.003 0 10 2 0 1 0 0 0 0 0.029 153327 chr19 56701381 56701381 C T rs774715338 ZSCAN5B Nonsynonymous SNV G435R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 153328 chr1 101372503 101372503 A G rs759426397 SLC30A7 Nonsynonymous SNV N93S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 153329 chr1 10228259 10228259 C G UBE4B Synonymous SNV A959A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.37 153330 chr15 48818452 48818452 T C rs565078451 FBN1 Nonsynonymous SNV D288G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.7 153331 chr1 10527333 10527333 C T rs781137474 DFFA Nonsynonymous SNV G119R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.5 153332 chr15 52427826 52427826 T C rs551515707 GNB5 Nonsynonymous SNV N210S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 19.65 153333 chr1 6634854 6634854 G C TAS1R1 Nonsynonymous SNV G221A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 153334 chr19 577996 577996 C T rs142446858 BSG Nonsynonymous SNV T97M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.806 153335 chr17 76117115 76117115 T G TMC6 Nonsynonymous SNV E505A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 153336 chr1 67855788 67855788 G T IL12RB2 Nonsynonymous SNV A589S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24 153337 chr15 57543612 57543612 C G rs765049366 TCF12 Synonymous SNV L157L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 153338 chr1 68954709 68954709 G A rs561724598 DEPDC1 Synonymous SNV G160G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.342 153339 chr1 74954907 74954907 - A rs754423974 FPGT-TNNI3K, TNNI3K Frameshift insertion E720Rfs*8 0.001 0.005 0 0 1 2 0 0 0 0 0 0 153340 chr15 58982915 58982915 G C rs141010622 HSP90AB4P 0 0 0.01 0 0 0 0 3 0 0 0 0 0.198 153341 chr1 1147105 1147105 G A TNFRSF4 Nonsynonymous SNV P248S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 153342 chr19 51870712 51870712 C T rs143501994 CLDND2 Synonymous SNV A143A 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 17.43 153343 chr8 144653129 144653129 T G rs188278492 MROH6 Nonsynonymous SNV N213T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 153344 chr9 131190671 131190671 A C rs761285367 CERCAM Nonsynonymous SNV N208T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 153345 chr1 109395258 109395258 G T rs41279674 AKNAD1 Nonsynonymous SNV T10K 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 5.103 153346 chr8 144942301 144942301 G A rs200410147 EPPK1 Synonymous SNV C1707C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.958 153347 chr1 89845945 89845945 G T rs752593753 GBP6 Nonsynonymous SNV G79V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.3 153348 chr15 74702971 74702971 G A SEMA7A Synonymous SNV V651V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.168 153349 chr19 19638544 19638544 - A NDUFA13 Frameshift insertion A95Gfs*75 0.001 0 0 0 1 0 0 0 0 0 0 0 153350 chr19 19638547 19638547 G C NDUFA13 Nonsynonymous SNV A95P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 153351 chr1 109804153 109804153 C T rs151200299 CELSR2 Synonymous SNV R1400R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.58 153352 chr1 12446363 12446363 C T VPS13D Synonymous SNV H3843H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 153353 chr15 77938731 77938731 - GTCCTGCCTCCCAG rs72546313 LINGO1-AS1 0 0 0.051 0 0 0 0 15 0 0 2 0 153354 chr17 80059565 80059565 A G rs368186065 CCDC57 Nonsynonymous SNV M534T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.861 153355 chr8 145161798 145161798 G A rs57433624 MAF1 Synonymous SNV E227E 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 1.477 153356 chr19 21606550 21606550 C G rs115428681 ZNF493 Nonsynonymous SNV H235Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 153357 chr1 9324235 9324235 G A rs754852262 H6PD Synonymous SNV E572E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 153358 chr19 22154858 22154858 A C rs764772638 ZNF208 Nonsynonymous SNV V993G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.005 153359 chr8 145245829 145245829 A G rs61735252 MROH1 Synonymous SNV R235R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.13 153360 chr1 111690455 111690455 C T rs41299567 CEPT1 Nonsynonymous SNV T40I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 153361 chr1 111737277 111737277 G C rs41299573 DENND2D Synonymous SNV L236L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.916 153362 chr15 79290536 79290536 G A RASGRF1 Synonymous SNV N188N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.062 153363 chr8 145668075 145668075 C G rs766031291 TONSL Nonsynonymous SNV S188T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25 153364 chr15 81627234 81627234 C G TMC3 Synonymous SNV S762S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.57 153365 chr9 135985784 135985784 C T RALGDS Synonymous SNV V74V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 153366 chr19 30018207 30018207 T G VSTM2B Nonsynonymous SNV S58A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 153367 chr7 75615552 75615552 G A rs145782750 POR Nonsynonymous SNV V631I 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.95 153368 chr15 85657111 85657111 A G rs775517025 PDE8A Nonsynonymous SNV N352S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.624 153369 chr19 3179875 3179875 G A rs141031634 S1PR4 Nonsynonymous SNV R362H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 153370 chr9 138235968 138235968 G T rs568295742 C9orf62 Synonymous SNV G58G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.245 153371 chr1 154115992 154115992 T C rs41315545 NUP210L Synonymous SNV V134V 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 4.934 153372 chr1 1230885 1230885 G A ACAP3 Synonymous SNV D585D 0.003 0 0 0 3 0 0 0 0 0 0 0 3.981 153373 chr19 3589532 3589532 G A rs750168561 GIPC3 Synonymous SNV G228G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.768 153374 chr1 1267040 1267040 T G rs144594741 TAS1R3 Nonsynonymous SNV W72G 0.003 0 0 0 3 0 0 0 0 0 0 0 16.52 153375 chr1 154988966 154988966 T C rs142530597 ZBTB7B Synonymous SNV S475S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.004 153376 chr1 155019697 155019697 C T rs138161806 DCST1 Synonymous SNV V482V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.139 153377 chr19 55993895 55993895 C T rs541614777 ZNF628 Synonymous SNV S445S 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 5.662 153378 chr1 155691351 155691351 C A rs112771778 DAP3 Nonsynonymous SNV S30Y 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 24.4 153379 chr1 1396238 1396238 G T rs72896283 ATAD3C Synonymous SNV A307A 0.004 0.013 0.02 1 5 5 0.003 6 0 1 0 0 9.084 153380 chr20 19679324 19679324 C T rs34696614 SLC24A3 Synonymous SNV Y573Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 7.108 153381 chr19 36223439 36223439 C G KMT2B Nonsynonymous SNV L1997V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 153382 chr18 2891094 2891094 C T rs773075532 EMILIN2 Synonymous SNV D323D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 153383 chr18 28934983 28934983 G A rs757887746 DSG1 Nonsynonymous SNV E942K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 153384 chr9 27949789 27949789 G A LINGO2 Nonsynonymous SNV S294F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.24 153385 chr15 93339748 93339748 G A rs142601253 ASB9P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.841 153386 chr9 32973554 32973554 T A rs141493373 APTX Nonsynonymous SNV Q270L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 153387 chr20 23016171 23016171 G C rs144685621 SSTR4 Synonymous SNV T17T 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 7.252 153388 chr1 156553132 156553132 G T rs746096516 TTC24 Nonsynonymous SNV D348Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.6 153389 chr7 100457844 100457844 G T SLC12A9 Nonsynonymous SNV G260V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.95 153390 chr1 150193000 150193002 TCT - rs781834143 ANP32E E225del 0.004 0 0 1 5 0 0.003 0 0 0 0 0 153391 chr1 150933468 150933468 C T rs113110991 SETDB1 Nonsynonymous SNV P977L 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 Likely benign 22.9 153392 chr18 43497716 43497716 G A rs144908324 EPG5 Nonsynonymous SNV T1056I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.64 153393 chr16 1252294 1252294 C T rs368976749 CACNA1H Nonsynonymous SNV T615M 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 30 153394 chr9 72897444 72897444 G A rs145999559 SMC5 Nonsynonymous SNV R309Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.12 153395 chr1 1025751 1025751 C T rs75079403 C1orf159 Nonsynonymous SNV A44T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.271 153396 chr18 45555796 45555796 C T rs899790050 ZBTB7C Synonymous SNV E565E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.863 153397 chr1 152287298 152287298 T C rs1056042662 FLG-AS1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.197 153398 chr1 158621162 158621162 G A rs374770895 SPTA1 Nonsynonymous SNV R1158W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 32 153399 chr19 39208702 39208702 G A rs201128110 ACTN4 Nonsynonymous SNV A427T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.5 153400 chr1 15893712 15893712 A G rs150076087 DNAJC16 Nonsynonymous SNV T321A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 153401 chr16 16165572 16165572 G A rs112282109 ABCC1 Nonsynonymous SNV R633Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.91 153402 chr16 1664932 1664932 C T CRAMP1 Nonsynonymous SNV P98S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 153403 chr9 82323666 82323666 G A TLE4 Nonsynonymous SNV A316T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.1 153404 chr19 4013175 4013175 C T rs201473166 PIAS4 Synonymous SNV G94G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 153405 chr1 15987358 15987358 C T rs375552353 RSC1A1 Nonsynonymous SNV P332L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 153406 chr9 88651284 88651284 A C rs150164706 GOLM1 Nonsynonymous SNV S246A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.005 153407 chr1 16053809 16053809 C T rs7517033 PLEKHM2 Synonymous SNV I414I 0.001 0.003 0.01 1 1 1 0.003 3 0 0 1 0 Benign 13.16 153408 chr1 16095104 16095104 G A rs75390903 FBLIM1 Nonsynonymous SNV V174I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 14.68 153409 chr9 95887274 95887274 C T rs373165256 NINJ1 Synonymous SNV L125L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.18 153410 chr10 15183484 15183484 G A rs1051536333 NMT2 Nonsynonymous SNV P34L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.794 153411 chr16 2230658 2230658 G A rs778822379 CASKIN1 Nonsynonymous SNV A904V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.033 153412 chr19 42471849 42471849 G A rs141412861 ATP1A3 Synonymous SNV P973P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.84 153413 chr16 240043 240043 G A rs747798961 LUC7L Nonsynonymous SNV R300W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 153414 chr16 24788389 24788389 A C rs4788428 TNRC6A Nonsynonymous SNV Q100P 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 10.63 153415 chr10 25314295 25314295 C T rs745649552 THNSL1 Stop gain Q715X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 41 153416 chr16 2764112 2764112 C T rs375317802 PRSS27 Synonymous SNV T52T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 153417 chr7 103017300 103017300 C G rs748052395 SLC26A5 Nonsynonymous SNV E634Q 0 0 0 3 0 0 0.008 0 0 0 0 0 31 153418 chr7 106508995 106508995 C T rs62001906 PIK3CG Nonsynonymous SNV T330M 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 Benign 26.7 153419 chr9 106864825 106864825 C T rs180923911 SMC2 Nonsynonymous SNV R331C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.3 153420 chr7 108155612 108155612 C T rs141707516 PNPLA8 Synonymous SNV L108L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 9.271 153421 chr16 3021285 3021285 C G PAQR4 Synonymous SNV L59L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.5 153422 chr16 30933851 30933851 T G rs76919728 FBXL19-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.994 153423 chr18 8113535 8113535 G A rs776894602 PTPRM Synonymous SNV T636T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.48 153424 chr19 846150 846150 A G rs144775105 PRTN3 Nonsynonymous SNV S125G 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 6.75 153425 chr1 175046683 175046683 C T rs201267863 TNN Synonymous SNV S43S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.66 153426 chr1 16065158 16065158 G A rs201219829 SLC25A34 Nonsynonymous SNV V223I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 153427 chr16 347829 347829 C T rs149536239 AXIN1 Synonymous SNV Q559Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.264 153428 chr19 1043398 1043398 C - rs760528352 ABCA7 R286Afs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 153429 chr19 10446391 10446391 C T rs772940698 ICAM3 Nonsynonymous SNV G202E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 153430 chr1 16458750 16458750 T A EPHA2 Nonsynonymous SNV S658C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 153431 chr16 4649353 4649353 G A rs371497834 C16orf96 Nonsynonymous SNV A1066T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 153432 chr7 138312974 138312974 G T SVOPL Nonsynonymous SNV P181H 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 26.1 153433 chr1 180065174 180065174 C T CEP350 Nonsynonymous SNV A2974V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19 153434 chr19 11259868 11259868 C T SPC24 Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.131 153435 chr16 52484317 52484317 C T rs114182621 TOX3 Nonsynonymous SNV A184T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 153436 chr10 52005146 52005146 G A rs141713369 ASAH2 Nonsynonymous SNV R66C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.334 153437 chr1 18152610 18152610 G C ACTL8 Nonsynonymous SNV D233H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.95 153438 chr19 11512698 11512698 G T rs774663120 RGL3 Synonymous SNV T491T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.763 153439 chr20 61957034 61957034 C T rs767935069 COL20A1 Synonymous SNV H1121H 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 9.146 153440 chr19 13041287 13041287 G A rs117345957 FARSA Nonsynonymous SNV R114W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.2 153441 chr1 154934145 154934145 G A rs376744456 LOC101928120 Synonymous SNV R19R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 153442 chr1 155110128 155110128 G A rs763316571 SLC50A1 Nonsynonymous SNV R70Q 0.003 0 0 0 3 0 0 0 0 0 0 0 11.86 153443 chr1 155258225 155258225 C T rs376990594 HCN3 Nonsynonymous SNV R766W 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 153444 chr16 57949227 57949227 T C rs779904580 CNGB1 Nonsynonymous SNV S738G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 153445 chr20 62669791 62669791 C T rs755098279 C20orf204 Nonsynonymous SNV T141M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.36 153446 chr19 48593639 48593639 T G rs140118627 PLA2G4C Nonsynonymous SNV I259L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.69 153447 chr20 62738060 62738060 G A rs150422039 NPBWR2 Nonsynonymous SNV P42L 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 6.293 153448 chr1 101343324 101343324 C T rs116620699 EXTL2 Synonymous SNV K47K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 153449 chr1 101487246 101487246 C T rs114495055 DPH5 Nonsynonymous SNV D71N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 153450 chr19 48866719 48866719 C T rs142927383 TMEM143 Stop gain W31X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 153451 chr16 614727 614727 G A rs200682205 PRR35 Nonsynonymous SNV G379D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.001 153452 chr19 49113161 49113161 C T rs187118641 FAM83E Nonsynonymous SNV G244S 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 33 153453 chr1 19478296 19478296 T G rs149681310 UBR4 Nonsynonymous SNV M2352L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.73 153454 chr19 49244700 49244700 G A rs138875475 IZUMO1 Nonsynonymous SNV P151S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 153455 chr16 66824885 66824885 T C rs200583619 TERB1 Synonymous SNV L23L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.477 153456 chr16 66975088 66975088 G A rs370215290 CES2 Nonsynonymous SNV R293Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 153457 chr16 66997163 66997163 G A rs200578924 CES3 Nonsynonymous SNV R55H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 153458 chr16 67235291 67235291 A T rs201664710 ELMO3 Nonsynonymous SNV M250L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 153459 chr16 67861397 67861397 C T rs146474803 TSNAXIP1 Nonsynonymous SNV P259S 0 0 0.01 0 0 0 0 3 0 0 0 0 26.4 153460 chr1 17928678 17928678 G A rs115180098 ARHGEF10L Nonsynonymous SNV R105Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.93 153461 chr19 15568282 15568295 GCGCCCGCAGCGCT - rs751462297 RASAL3 A414Dfs*64 0.001 0 0.003 0 1 0 0 1 0 0 0 0 153462 chr1 200818407 200818407 T G rs145940629 CAMSAP2 Nonsynonymous SNV I821R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Uncertain significance 0.139 153463 chr1 110302392 110302392 A T rs75718950 EPS8L3 Nonsynonymous SNV F21I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.3 153464 chr1 18023632 18023632 A T rs147218607 ARHGEF10L Synonymous SNV A902A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 153465 chr10 73767792 73767792 G A rs150466838 CHST3 Nonsynonymous SNV E335K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.1 153466 chr1 157105463 157105463 T C rs144461001 ETV3 Synonymous SNV S28S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.055 153467 chr1 201176374 201176374 G A rs756251166 IGFN1 Nonsynonymous SNV E785K 0.002 0 0 0 2 0 0 0 0 0 0 0 1.674 153468 chr19 49993941 49993941 T A rs749768780 SNORD33 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 153469 chr19 50028001 50028001 C T rs777748221 FCGRT Nonsynonymous SNV A280V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 153470 chr16 72821594 72821605 GCCGCCGCCGCC - rs757152265 ZFHX3 G2610_G2613del 0 0 0.003 0 0 0 0 1 0 0 0 0 153471 chr1 158225083 158225083 C T rs116290813 CD1A Nonsynonymous SNV R79C 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 17.86 153472 chr16 74729506 74729506 C T MLKL Synonymous SNV K50K 0 0 0.007 0 0 0 0 2 0 0 0 0 7.718 153473 chr19 16275657 16275657 C T CIB3 Synonymous SNV G89G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 153474 chr16 75260797 75260797 T A rs8059190 LOC100506281 0 0 0.007 0 0 0 0 2 0 0 1 0 4.23 153475 chr19 16980459 16980459 C A SIN3B Nonsynonymous SNV S255R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 153476 chr21 35144568 35144568 C G rs766054300 ITSN1 Nonsynonymous SNV Q416E 0.005 0.01 0 0 6 4 0 0 0 0 0 0 23.2 153477 chr7 150696323 150696323 G A rs753573625 NOS3 Synonymous SNV P334P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.961 153478 chr21 35258631 35258631 G A rs148344411 ITSN1 Synonymous SNV Q1623Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.845 153479 chr10 79814521 79814521 C T rs763771524 RPS24 Nonsynonymous SNV A208V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.369 153480 chr19 50983419 50983419 G A rs140693786 EMC10 Nonsynonymous SNV G117R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 153481 chr21 37833304 37833304 G A rs149733854 CLDN14 Synonymous SNV H230H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.009 153482 chr16 81211531 81211531 C A rs201296468 PKD1L2 Nonsynonymous SNV R88L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.086 153483 chr9 135273610 135273610 C T rs748657112 TTF1 Synonymous SNV K50K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.2 153484 chr7 155556656 155556656 C T rs750098087 RBM33 Nonsynonymous SNV H1044Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.28 153485 chr19 17571406 17571406 G C rs138621059 NXNL1 Synonymous SNV L91L 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 2.137 153486 chr9 136260856 136260856 C T rs370235211 STKLD1 Nonsynonymous SNV L278F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 153487 chr1 160309735 160309735 T C rs143827776 COPA Synonymous SNV P64P 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 Benign 5.435 153488 chr1 116577948 116577948 G - SLC22A15 W362Cfs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 153489 chr1 193028445 193028445 C A rs774638292 UCHL5 0.001 0 0 0 1 0 0 0 0 0 0 0 6.937 153490 chr8 195650 195654 GACAT - rs763779250 ZNF596 H269Dfs*5 0 0 0 3 0 0 0.008 0 0 0 0 0 153491 chr8 442472 442472 G A rs370169255 TDRP Nonsynonymous SNV A162V 0 0 0 3 0 0 0.008 0 0 0 0 0 23.4 153492 chr16 84225167 84225167 C G ADAD2 Nonsynonymous SNV P111A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 153493 chr19 5223023 5223023 G A rs759129843 PTPRS Nonsynonymous SNV T905M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 153494 chr19 18561379 18561379 T A ELL Nonsynonymous SNV K458M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 153495 chr19 52496176 52496176 G A rs181711461 ZNF615 Nonsynonymous SNV A723V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 153496 chr19 52497280 52497280 C T rs141051481 ZNF615 Nonsynonymous SNV G355E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 153497 chr9 139369408 139369408 C T rs200238338 SEC16A Nonsynonymous SNV G887E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.63 153498 chr19 21300467 21300550 ATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTTAATGTGTCTTCACACCTTACTACACATAAGATG - ZNF714 V351_N378del 0.001 0 0 0 1 0 0 0 0 0 0 0 153499 chr19 21365623 21365623 A G ZNF431 Nonsynonymous SNV S174G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.349 153500 chr8 11643696 11643696 G A rs139505292 NEIL2 Nonsynonymous SNV E244K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 13.58 153501 chr9 140074760 140074760 G A rs201768062 ANAPC2 Nonsynonymous SNV P588L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.7 153502 chr9 140110387 140110387 A G rs745585461 NDOR1 Nonsynonymous SNV Q457R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 17.66 153503 chr9 140250732 140250732 C T rs200234842 EXD3 Nonsynonymous SNV G249S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.092 153504 chr21 47329293 47329293 A G PCBP3 Nonsynonymous SNV S122G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.86 153505 chr19 54313566 54313566 G C rs111234757 NLRP12 Synonymous SNV A449A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.235 153506 chr19 54483203 54483203 C G rs145338051 CACNG8 Synonymous SNV R150R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.95 153507 chr9 140468766 140468766 C T rs149311030 DPH7 Synonymous SNV V44V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.423 153508 chr16 88804983 88804983 T C rs140142474 PIEZO1 Synonymous SNV A209A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 2.433 153509 chr9 140773612 140773612 - ACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC CACNA1B 0 0.003 0 0 0 1 0 0 0 0 0 0 153510 chr10 104816706 104816706 C T rs368187595 CNNM2 Synonymous SNV F686F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.9 153511 chr8 18257858 18257858 C T rs45532639 NAT2 Synonymous SNV D115D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.707 153512 chr19 54695662 54695662 C G rs17849378 TSEN34 Nonsynonymous SNV L112V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.4 153513 chr19 3179280 3179280 G A rs150230356 S1PR4 Nonsynonymous SNV G164S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.13 153514 chr19 325635 325635 T A MIER2 Nonsynonymous SNV I183F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 153515 chr16 89234723 89234723 A G rs72819343 LINC02138 0 0 0.054 0 0 0 0 16 0 0 1 0 0.009 153516 chr16 89235258 89235258 C A rs72819344 LINC02138 0 0 0.044 0 0 0 0 13 0 0 1 0 2.933 153517 chr16 89235483 89235483 C T rs72819346 LINC02138 0 0 0.003 0 0 0 0 1 0 0 0 0 1.167 153518 chr8 21924614 21924614 G T rs764833188 DMTN Nonsynonymous SNV G13W 0 0 0 3 0 0 0.008 0 0 0 0 0 34 153519 chr10 111630628 111630628 T C XPNPEP1 Synonymous SNV L405L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.844 153520 chr1 22222457 22222457 C G HSPG2 Nonsynonymous SNV D68H 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 153521 chr16 89294801 89294801 A C rs779223458 ZNF778 Nonsynonymous SNV K674T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 153522 chr16 89346883 89346883 C G rs60520302 ANKRD11 Nonsynonymous SNV A2023P 0.004 0.003 0.02 1 5 1 0.003 6 0 0 0 0 Benign 1.995 153523 chr16 89348018 89348018 C T rs72821356 ANKRD11 Synonymous SNV G1644G 0.004 0.003 0.02 1 5 1 0.003 6 0 0 0 0 Benign 0.666 153524 chr16 89351826 89351826 G A rs559672667 ANKRD11 Nonsynonymous SNV T375M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.636 153525 chr19 33878347 33878347 A G rs201222933 PEPD Nonsynonymous SNV I421T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.77 153526 chr1 2234516 2234516 C T rs370418830 SKI Nonsynonymous SNV R357W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 35 153527 chr16 89718031 89718031 C T rs187184327 CHMP1A Nonsynonymous SNV A11T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 14.51 153528 chr16 89764679 89764679 C G rs150968298 SPATA2L Nonsynonymous SNV G113A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 6.746 153529 chr16 89784415 89784415 C A rs189324426 VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.126 153530 chr19 35435595 35435595 G C ZNF30 Nonsynonymous SNV K576N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 153531 chr1 227153087 227153087 C T rs140897240 COQ8A Synonymous SNV P188P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.25 153532 chr10 118434514 118434514 G A rs782446605 HSPA12A Synonymous SNV I602I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.736 153533 chr1 154570357 154570357 C T rs746786973 ADAR Synonymous SNV G332G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 153534 chr1 185704025 185704025 G T rs115169621 HMCN1 Synonymous SNV G38G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 9.806 153535 chr8 28988110 28988110 G A rs764819784 KIF13B Synonymous SNV C1005C 0 0 0 3 0 0 0.008 0 0 0 0 0 8.15 153536 chr1 186121974 186121974 C T HMCN1 Nonsynonymous SNV L4997F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 153537 chr8 30407069 30407069 C A rs557104164 RBPMS Nonsynonymous SNV P194H 0 0 0 4 0 0 0.01 0 0 0 0 0 7.977 153538 chr19 36431401 36431401 G A rs139366899 LRFN3 Synonymous SNV P358P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.907 153539 chr19 36501482 36501482 T A rs201738084 ALKBH6 X162C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 153540 chr1 19184041 19184041 C G rs543884855 TAS1R2 Synonymous SNV L89L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.424 153541 chr17 17698155 17698155 C A rs374389275 RAI1 Nonsynonymous SNV S631R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 153542 chr19 37038617 37038617 G A rs767069480 ZNF529 Synonymous SNV H263H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.463 153543 chr8 38808457 38808457 C G rs371039918 PLEKHA2 Synonymous SNV A145A 0 0 0 3 0 0 0.008 0 0 0 0 0 15.8 153544 chr17 18138296 18138296 G A rs142159009 LLGL1 Nonsynonymous SNV R350Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.443 153545 chr19 37488026 37488026 G T ZNF568 Nonsynonymous SNV R414L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.649 153546 chr10 27508709 27508709 C T rs187831118 ACBD5 Nonsynonymous SNV E81K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 153547 chr1 196928157 196928157 C T rs41313888 CFHR2 Stop gain R130X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 34 153548 chr17 18226010 18226010 A G rs201655539 SMCR8 Nonsynonymous SNV N814D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 153549 chr19 3760027 3760027 G A rs11556574 APBA3 Nonsynonymous SNV A79V 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 0.933 153550 chr1 197072106 197072106 T A rs144574871 ASPM Nonsynonymous SNV N2092I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.262 153551 chr17 1939306 1939306 C T rs749536371 DPH1 Synonymous SNV Y112Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 153552 chr1 197074261 197074263 AAT - rs587783241 ASPM Y1373del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 153553 chr8 62415951 62415951 T C ASPH Synonymous SNV T719T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.351 153554 chr8 67492516 67492516 G A MYBL1 Nonsynonymous SNV T318I 0 0 0 3 0 0 0.008 0 0 0 0 0 15.59 153555 chr10 134219078 134219078 C T rs752984735 PWWP2B Synonymous SNV N358N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.465 153556 chr1 225458500 225458500 C T rs764160191 DNAH14 Nonsynonymous SNV L2535F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 153557 chr8 67809061 67809061 T C MCMDC2 Nonsynonymous SNV L498S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 153558 chr8 69243669 69243669 A G rs763901435 C8orf34-AS1 0 0 0 3 0 0 0.008 0 0 0 0 0 7.808 153559 chr1 200843245 200843245 C T rs143071598 GPR25 Synonymous SNV S360S 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 11.53 153560 chr19 38385866 38385866 C T rs564595032 WDR87 Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 153561 chr19 57987104 57987104 C T rs73067111 ZNF772 Stop gain W41X 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 37 153562 chr1 15953167 15953167 G T DDI2 Nonsynonymous SNV V48F 0.004 0.005 0 0 5 2 0 0 0 0 0 0 19.73 153563 chr19 39591409 39591411 CTT - rs765032439 ACP7 S201del 0.001 0 0 0 1 0 0 0 0 0 0 0 153564 chr19 39884246 39884246 A G rs552907980 MED29 Nonsynonymous SNV Y110C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 153565 chr8 80915262 80915262 C A rs200058660 MRPS28 Nonsynonymous SNV V123L 0 0 0 3 0 0 0.008 0 0 0 0 0 33 153566 chr19 59011767 59011767 G A rs536826731 SLC27A5 Synonymous SNV F385F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.95 153567 chr17 27050610 27050610 A C rs199603719 RPL23A Synonymous SNV A136A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.455 153568 chr17 27062353 27062353 C T rs201773965 NEK8 Synonymous SNV Y194Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 10.96 153569 chr1 203743286 203743286 T C rs146780497 LAX1 Nonsynonymous SNV L209P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 153570 chr1 228559450 228559450 G A rs186870748 OBSCN Nonsynonymous SNV G6991R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.061 153571 chr17 27958499 27958499 C T rs749095686 SSH2 Nonsynonymous SNV R1211Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.123 153572 chr19 6744587 6744587 G A rs150916721 TRIP10 Nonsynonymous SNV R222H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 153573 chr17 29902356 29902356 T C rs72817738 MIR4725 0 0 0.01 0 0 0 0 3 0 0 0 0 0.89 153574 chr17 30525990 30525990 T G RHOT1 Synonymous SNV T298T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.386 153575 chr19 422199 422199 C T rs190693429 SHC2 Nonsynonymous SNV G523S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 153576 chr1 232568025 232568025 C T rs761766563 SIPA1L2 Synonymous SNV P1408P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 17.81 153577 chr1 232650678 232650678 C T rs200100331 SIPA1L2 Synonymous SNV E136E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 153578 chr1 23280024 23280024 - CAC rs764403246 LACTBL1 V417_L418insV 0.003 0 0 0 3 0 0 0 0 0 0 0 153579 chr17 3213597 3213597 A C rs182751184 OR3A4P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.572 153580 chr19 42563505 42563505 C T rs774716746 GRIK5 Nonsynonymous SNV R228H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 153581 chr8 104413754 104413754 T C rs762781054 SLC25A32 Nonsynonymous SNV K268E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.38 153582 chr22 41513727 41513727 G A rs142030651 EP300 Nonsynonymous SNV G211S 0.006 0.013 0 7 7 5 0.018 0 0 0 0 0 Benign 20.2 153583 chr22 41572253 41572253 C T EP300 Synonymous SNV V1568V 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 9.097 153584 chr10 61932086 61932086 C T rs747811605 ANK3 Nonsynonymous SNV E803K 0 0.003 0 0 0 1 0 0 0 0 0 0 35 153585 chr19 7755354 7755354 C T rs770755660 FCER2 Nonsynonymous SNV A186T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 153586 chr19 44376789 44376789 T C rs200904232 ZNF404 Nonsynonymous SNV K523R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 153587 chr22 42805531 42805531 C T rs143813591 NFAM1 Synonymous SNV P158P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 11.1 153588 chr17 34234317 34234317 G A rs188574938 LRRC37A8P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.323 153589 chr19 7987125 7987125 C G rs201531431 SNAPC2 Nonsynonymous SNV S193W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.5 153590 chr8 121561028 121561028 G A rs61762674 SNTB1 Nonsynonymous SNV A436V 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 24.7 153591 chr1 171527120 171527120 C G rs754768602 PRRC2C Nonsynonymous SNV P1955A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 153592 chr19 847944 847944 G A rs150802678 PRTN3 Nonsynonymous SNV R249H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.9 153593 chr17 36718529 36718529 G A rs1028652236 SRCIN1 Synonymous SNV P290P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.976 153594 chr1 171753417 171753417 C T rs761239304 EEF1AKNMT Nonsynonymous SNV R145C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 153595 chr1 214813322 214813322 A G rs201426172 CENPF Synonymous SNV Q547Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.011 153596 chr22 46790142 46790142 G A rs138703288 CELSR1 Nonsynonymous SNV P1954L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.5 153597 chr22 46930013 46930013 C A rs61737811 CELSR1 Nonsynonymous SNV A1019S 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 25.2 153598 chr17 38100558 38100558 C T rs141563058 LRRC3C Synonymous SNV L133L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.59 153599 chr17 38100916 38100916 C T rs144391826 LRRC3C Nonsynonymous SNV R253C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.5 153600 chr1 248903101 248903101 G A rs782506590 LYPD8 Synonymous SNV N17N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.574 153601 chr1 245165481 245165481 T C rs762548922 EFCAB2 Star tloss M1? 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.309 153602 chr1 17586248 17586248 A G rs375373700 PADI3 Nonsynonymous SNV S90G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 13.06 153603 chr1 26509704 26509704 C - rs762559842 CNKSR1 T215Pfs*53 0.001 0.003 0 0 1 1 0 0 0 0 0 0 153604 chr1 26608829 26608829 G A rs61775085 UBXN11 Synonymous SNV G388G 0.003 0 0 0 4 0 0 0 2 0 0 0 6.767 153605 chr1 216824430 216824430 G A rs150404187 ESRRG Synonymous SNV G135G 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 14.86 153606 chr11 1507720 1507720 G A rs538768582 MOB2 Nonsynonymous SNV L23F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.912 153607 chr1 223931867 223931867 G A rs375820403 CAPN2 Nonsynonymous SNV V47I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22 153608 chr1 183096448 183096448 G A rs137973348 LAMC1 Nonsynonymous SNV R1011H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 153609 chr19 47878772 47878772 T C rs199781970 DHX34 Nonsynonymous SNV V705A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 153610 chr19 48205247 48205247 A G BICRA Nonsynonymous SNV K1420E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 153611 chr19 48305667 48305690 CTGAGATTGGGCCTGGGATCGGGC - rs747763858 TPRX1 G193_S200del 0.001 0 0 0 1 0 0 0 0 0 0 0 153612 chr2 105708918 105708918 G A rs149463519 MRPS9 Synonymous SNV E237E 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 5.991 153613 chr2 105924171 105924171 G A rs143327813 TGFBRAP1 Synonymous SNV G196G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.85 153614 chr19 48741640 48741640 G A rs755856247 CARD8 Nonsynonymous SNV T70M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 153615 chr17 39994216 39994216 G A rs528144888 KLHL10 Nonsynonymous SNV R11H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 153616 chr2 111556207 111556207 G A rs376602358 ACOXL Synonymous SNV P122P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 6.569 153617 chr19 9868341 9868341 G A rs370153110 ZNF846 Nonsynonymous SNV T342M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 153618 chr17 40864422 40864422 G A rs374952991 EZH1 Nonsynonymous SNV S435L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 153619 chr1 228403445 228403445 C T rs776273701 OBSCN Synonymous SNV I670I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.12 153620 chr17 40958830 40958830 T C rs140948221 CNTD1 Nonsynonymous SNV L157P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 153621 chr8 145666430 145666430 G T TONSL Synonymous SNV A310A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.784 153622 chr17 41170751 41170751 C T rs11539634 VAT1 Synonymous SNV S151S 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 10.35 153623 chr17 43319435 43319443 CCGCCGCCG - rs771422672 FMNL1 P610_P612del 0 0 0.003 0 0 0 0 1 0 0 0 0 153624 chr10 101486844 101486844 A G COX15 Nonsynonymous SNV W155R 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 27.8 153625 chr19 49898404 49898404 G A rs191973091 CCDC155 Nonsynonymous SNV V64M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 153626 chr1 40928278 40928278 C A rs148278676 ZFP69B Nonsynonymous SNV Q208K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.13 153627 chr19 50358298 50358298 G A rs142093990 PTOV1 Synonymous SNV S174S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 153628 chr19 50360219 50360219 G A rs759990595 PTOV1-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 3.974 153629 chr19 50365626 50365626 A G rs199919568 PNKP 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 153630 chr19 51021191 51021191 G A rs113707095 LRRC4B Synonymous SNV L593L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.496 153631 chr19 51021353 51021353 C G rs375311127 LRRC4B Synonymous SNV T539T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.498 153632 chr1 43897481 43897481 A G rs751797305 SZT2 Nonsynonymous SNV H1671R 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 10.1 153633 chr2 136396582 136396582 G A R3HDM1 Nonsynonymous SNV R314Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 153634 chr19 51361436 51361436 G A rs766084011 KLK3 Nonsynonymous SNV D120N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 153635 chr1 45115340 45115340 G A rs545365979 RNF220 Nonsynonymous SNV E272K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 153636 chr1 3382719 3382719 - G rs765342825 ARHGEF16 Frameshift insertion R201Efs*31 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 153637 chr1 36025977 36025977 G T rs138059318 NCDN Synonymous SNV R58R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.348 153638 chr17 5462215 5462215 T A rs73973843 NLRP1 Nonsynonymous SNV I601F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 23.1 153639 chr1 47767243 47767243 G A STIL Nonsynonymous SNV S148L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 153640 chr1 116569518 116569518 G A rs752672021 SLC22A15 Synonymous SNV S201S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 153641 chr17 55016479 55016479 G A rs756813123 COIL Synonymous SNV L562L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 153642 chr9 35045266 35045266 G A rs532668878 C9orf131 Synonymous SNV A845A 0 0.005 0 3 0 2 0.008 0 0 0 0 0 11.39 153643 chr17 55016485 55016485 G T rs778610541 COIL Nonsynonymous SNV P560T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 153644 chr17 55016486 55016486 G A rs745560109 COIL Synonymous SNV D559D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.735 153645 chr17 56405156 56405156 G T rs148586326 TSPOAP1 Synonymous SNV I42I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.169 153646 chr9 35808555 35808555 G C NPR2 Nonsynonymous SNV R921P 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 27.4 153647 chr9 37711382 37711382 G A rs140966026 FRMPD1 Nonsynonymous SNV R133H 0.009 0.008 0 5 10 3 0.013 0 0 0 0 0 34 153648 chr1 247151464 247151464 C T rs758774159 ZNF695 Nonsynonymous SNV C118Y 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 17.02 153649 chr2 163208877 163208877 G T rs79565841 GCA Nonsynonymous SNV Q100H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29 153650 chr1 41013073 41013073 T A rs139813674 ZNF684 Nonsynonymous SNV C360S 0.01 0.005 0.007 7 12 2 0.018 2 0 0 0 0 27.5 153651 chr2 167262274 167262274 C T rs188781935 SCN7A Nonsynonymous SNV R1622Q 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 32 153652 chr1 149901711 149901711 G A rs139934471 MTMR11 Nonsynonymous SNV P510L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 153653 chr1 151274741 151274741 C T rs41270706 PI4KB Synonymous SNV P186P 0.003 0.005 0.017 6 4 2 0.015 5 0 0 0 0 17.48 153654 chr19 54561663 54561663 C T rs139186362 VSTM1 Synonymous SNV T84T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 153655 chr1 152128406 152128406 T C rs771510334 RPTN Nonsynonymous SNV H390R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.175 153656 chr17 70645342 70645342 C T rs150096159 SLC39A11 Nonsynonymous SNV R253Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.2 153657 chr2 178257581 178257581 G A rs759572190 AGPS Nonsynonymous SNV A22T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 17.92 153658 chr19 55098775 55098775 C T rs139318172 LILRA2 Nonsynonymous SNV H443Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.48 153659 chr2 178257582 178257582 C G rs767584572 AGPS Nonsynonymous SNV A22G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 1.704 153660 chr1 6529199 6529199 C T PLEKHG5 Nonsynonymous SNV E718K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 153661 chr11 209746 209746 C G rs528696024 RIC8A Nonsynonymous SNV H158D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 153662 chr9 96291646 96291646 G A rs147279211 FAM120A Synonymous SNV S505S 0.003 0.008 0.01 3 4 3 0.008 3 0 0 0 0 13.25 153663 chr9 96860142 96860142 G A rs151312354 PTPDC1 Nonsynonymous SNV V432I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 13.32 153664 chr2 179397951 179397951 T G TTN Nonsynonymous SNV K25399T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 17.05 153665 chr1 47903918 47903918 G C rs538848817 FOXD2 Synonymous SNV G37G 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 2.6 153666 chr9 97321430 97321430 G A rs376892198 PCAT7 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 14.68 153667 chr2 179411016 179411016 C T rs780124773 TTN Nonsynonymous SNV S22616N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.68 153668 chr11 280128 280128 C T rs571126349 NLRP6 Nonsynonymous SNV R132W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.88 153669 chr2 179437604 179437604 C G TTN Nonsynonymous SNV A15354P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 153670 chr1 26526438 26526438 C T rs569953962 CATSPER4 Synonymous SNV T292T 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 13.49 153671 chr1 53569192 53569192 C T rs769734915 SLC1A7 Nonsynonymous SNV E103K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.18 153672 chr1 225528175 225528175 G T rs184094753 DNAH14 Stop gain E3484X 0 0.003 0 0 0 1 0 0 0 0 0 0 58 153673 chr9 101597538 101597538 A G rs773891669 GALNT12 Nonsynonymous SNV T309A 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 28.3 153674 chr1 15441203 15441203 C T rs538010676 TMEM51-AS1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.076 153675 chr9 104335472 104335472 C T rs76232475 GRIN3A Nonsynonymous SNV R1111Q 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 33 153676 chr2 179612315 179612315 T C rs145581345 TTN Nonsynonymous SNV M4938V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.87 153677 chr1 155292649 155292649 C T rs374342916 RUSC1 Nonsynonymous SNV S362L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 153678 chr2 179979910 179979910 C T rs140312284 SESTD1 Nonsynonymous SNV R574Q 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 24.7 153679 chr1 227921377 227921377 G A rs1048352049 JMJD4 Nonsynonymous SNV P233L 0 0.005 0 0 0 2 0 0 0 0 0 0 29.4 153680 chr9 111644034 111644034 A G rs766830694 ELP1 Synonymous SNV Y750Y 0 0 0 3 0 0 0.008 0 0 0 0 0 7.221 153681 chr1 1560447 1560447 G A MIB2 Synonymous SNV V259V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.992 153682 chr11 899342 899342 G A rs376910476 CHID1 Synonymous SNV R202R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.22 153683 chr19 56717453 56717453 C A rs1015950846 ZSCAN5C Nonsynonymous SNV D57E 0.002 0 0 0 2 0 0 0 0 0 0 0 24 153684 chr19 5686913 5686913 G A rs759058739 HSD11B1L Nonsynonymous SNV G26R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 153685 chr1 6314173 6314173 C T rs775180137 GPR153 Nonsynonymous SNV V131I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.8 153686 chr1 34554768 34554768 C A CSMD2 Nonsynonymous SNV G72C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 153687 chr17 74684584 74684584 G A rs747109357 MXRA7 Nonsynonymous SNV S49L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.591 153688 chr1 35260717 35260717 G T rs113974864 GJA4 Synonymous SNV A301A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 4.813 153689 chr11 33772120 33772120 T C rs147947649 FBXO3 Synonymous SNV V299V 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 8.704 153690 chr1 229588305 229588305 C T rs370240365 NUP133 Synonymous SNV A1022A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.34 153691 chr17 7487269 7487269 G T rs758150157 MPDU1 Nonsynonymous SNV W30L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 153692 chr9 117119232 117119232 G T rs758917377 AKNA Synonymous SNV S800S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 5.463 153693 chr19 58772719 58772720 CT - rs746269658 ZNF544 L223Qfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 153694 chr11 46914670 46914670 A G rs150777198 LRP4 Synonymous SNV A517A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign/Likely benign 3.033 153695 chr1 236332046 236332046 T C rs147805876 GPR137B Nonsynonymous SNV L152P 0 0.003 0 0 0 1 0 0 0 0 0 0 24 153696 chr1 41283852 41283852 T A rs766465736 KCNQ4 Nonsynonymous SNV V141E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 153697 chr2 201724452 201724452 A T rs145427980 CLK1 Nonsynonymous SNV L209I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 153698 chr2 20205965 20205965 G A rs201755444 MATN3 Synonymous SNV I110I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.228 153699 chr19 59074795 59074795 G A MZF1 Synonymous SNV L283L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 153700 chr1 41296871 41296871 G A rs765075433 KCNQ4 Nonsynonymous SNV V416M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.29 153701 chr17 78120650 78120650 G C rs528688506 EIF4A3 Synonymous SNV T37T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 153702 chr17 78181982 78181982 G A rs78569961 CARD14 Synonymous SNV E951E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.25 153703 chr17 78182014 78182014 G A rs34850974 CARD14 Nonsynonymous SNV R962Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.06 153704 chr17 78261836 78261836 G A rs376901868 RNF213 Nonsynonymous SNV G162S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.961 153705 chr2 202755538 202755538 G A rs113623048 CDK15 Nonsynonymous SNV R404K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.91 153706 chr17 78263634 78263634 A G rs141921176 RNF213 Synonymous SNV A370A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.266 153707 chr1 9667819 9667819 G A TMEM201 Synonymous SNV L455L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.43 153708 chr17 78327751 78327751 C T rs60571269 RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.247 153709 chr11 1093311 1093311 - CCTACACCCACCGGCACACAGACCCCAACATCGACACCCATCAGCACCACCACTACGGTGACCCCAACA MUC2 T1720_P1721insSTPISTTTTVTPTPTPTGTQTPT 0 0.003 0 0 0 1 0 0 0 0 0 0 153710 chr17 78942712 78942712 G C rs151253282 LOC400627 0 0 0.003 0 0 0 0 1 0 0 0 0 1.252 153711 chr1 43778810 43778810 T G rs755120759 TIE1 Synonymous SNV P599P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.166 153712 chr1 16345817 16345817 G C rs547933741 HSPB7 Nonsynonymous SNV L50V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.304 153713 chr17 79226092 79226092 G A rs148447101 SLC38A10 Synonymous SNV N616N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.015 153714 chr17 79496289 79496289 G A rs34797307 FSCN2 Synonymous SNV T244T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.081 153715 chr20 15210695 15210695 C T rs770177246 MACROD2 Synonymous SNV N176N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.84 153716 chr17 79668116 79668116 A G rs200139873 HGS Synonymous SNV P726P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.947 153717 chr1 89616216 89616216 C T rs150032762 GBP7 Stop gain W223X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 153718 chr17 80019120 80019120 G A rs375227321 DUS1L Synonymous SNV Y269Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.815 153719 chr2 210560281 210560281 G A rs36091461 MAP2 Synonymous SNV E1125E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.538 153720 chr2 211168267 211168267 A G rs138512142 MYL1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 153721 chr1 46512291 46512291 G A rs145803544 LOC110117498-PIK3R3, PIK3R3 Synonymous SNV L160L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.11 153722 chr9 130242179 130242179 A G rs56380300 LRSAM1 Nonsynonymous SNV Q322R 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 Conflicting interpretations of pathogenicity 12.98 153723 chr2 211179765 211179765 - TT rs544557603 MYL1 M1M 0.001 0 0 0 1 0 0 0 0 0 0 0 153724 chr9 130497504 130497504 C G rs1002902878 TOR2A Nonsynonymous SNV G16R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 153725 chr20 18396047 18396047 C A rs150264642 DZANK1 Nonsynonymous SNV G161V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.37 153726 chr1 9188904 9188904 G T GPR157 Synonymous SNV A61A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 16.47 153727 chr1 47746282 47746282 C T rs530746969 STIL Synonymous SNV P616P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.85 153728 chr11 55587391 55587391 T A rs146541517 OR5D18 Nonsynonymous SNV L96I 0.001 0.003 0.014 1 1 1 0.003 4 0 0 0 0 0.535 153729 chr1 247978880 247978880 T A OR14A16 Nonsynonymous SNV H51L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 153730 chr1 51032761 51032761 G T rs750254606 FAF1 Nonsynonymous SNV S419Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23 153731 chr1 248097922 248097922 A G rs80338561 OR2AJ1 Synonymous SNV T285T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.02 153732 chr9 133911674 133911674 C T rs761933914 LAMC3 Nonsynonymous SNV R311C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 153733 chr1 95709824 95709824 A C RWDD3 Nonsynonymous SNV D48A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 153734 chr1 55081756 55081756 - G rs371885641 FAM151A Frameshift insertion T118Hfs*5 0.003 0 0 0 3 0 0 0 0 0 0 0 153735 chr1 248343991 248343991 G A rs142589543 OR2M2 Nonsynonymous SNV C235Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 6.775 153736 chr1 248487031 248487031 G A rs62000404 OR2M7 Synonymous SNV I280I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 8.815 153737 chr1 248487764 248487764 G A rs61999307 OR2M7 Nonsynonymous SNV S36L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.19 153738 chr1 55167898 55167898 G A rs755087371 MROH7 Nonsynonymous SNV G659S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 153739 chr1 248487834 248487834 G T rs62000388 OR2M7 Nonsynonymous SNV L13I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.001 153740 chr20 13098275 13098275 C T rs200043425 SPTLC3 Nonsynonymous SNV T352M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 153741 chr1 248570201 248570201 C T rs79779218 OR2T1 Synonymous SNV Y302Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 11.09 153742 chr1 248570383 248570383 G C rs77960894 OR2T1 Nonsynonymous SNV R363T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 9.51 153743 chr18 28972226 28972226 C A rs886053705 DSG4 Nonsynonymous SNV L310I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.96 153744 chr18 3215088 3215088 G C MYOM1 Nonsynonymous SNV A45G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 153745 chr19 9075876 9075876 G A rs377575192 MUC16 Nonsynonymous SNV A3857V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 8.072 153746 chr20 33589857 33589857 G A rs571968878 MYH7B Nonsynonymous SNV R1970Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 153747 chr9 137619218 137619218 C T rs144844792 COL5A1 Nonsynonymous SNV S254L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 25 153748 chr20 35491403 35491403 G A SOGA1 Synonymous SNV S115S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.24 153749 chr1 6688740 6688740 G A rs140604454 THAP3 Nonsynonymous SNV D86N 0.004 0 0 0 5 0 0 0 0 0 0 0 19.61 153750 chr18 44526827 44526827 C T rs377608846 KATNAL2 Stop gain Q24X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.867 153751 chr18 48723482 48723482 A G MEX3C Nonsynonymous SNV L70P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.433 153752 chr18 5291982 5291982 G C ZBTB14 Synonymous SNV V75V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.308 153753 chr1 32508135 32508135 C T rs763686938 KHDRBS1 Synonymous SNV D375D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.36 153754 chr11 57472551 57472551 T C rs180753680 MED19 Nonsynonymous SNV D140G 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 28.2 153755 chr20 43530216 43530216 C T rs148717452 YWHAB Synonymous SNV L14L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.09 153756 chr1 201177754 201177754 G A rs866561070 IGFN1 Nonsynonymous SNV G1245R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 153757 chr1 7886576 7886576 T C rs753504597 PER3 Nonsynonymous SNV L665P 0.004 0 0 0 5 0 0 0 0 0 0 0 5.69 153758 chr1 110766440 110766440 G A rs146151572 KCNC4 Synonymous SNV E511E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.199 153759 chr11 59244912 59244912 - A rs564277599 OR4D10 Frameshift insertion N5Kfs*48 0.001 0 0 1 1 0 0.003 0 0 0 0 0 153760 chr1 201356031 201356031 G C rs200727328 LAD1 Nonsynonymous SNV P153R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 153761 chr1 203154338 203154338 G A rs576791597 CHI3L1 Synonymous SNV Y77Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.682 153762 chr10 3180437 3180437 C T rs537269577 PITRM1 Nonsynonymous SNV V906M 0 0 0 3 0 0 0.008 0 0 0 0 0 29.4 153763 chr1 204214804 204214804 G A rs61739301 PLEKHA6 Synonymous SNV D657D 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.18 153764 chr2 241689925 241689925 G C rs140783695 KIF1A Synonymous SNV P865P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.677 153765 chr1 115632048 115632048 C A rs766937247 TSPAN2 Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.27 153766 chr1 205811802 205811802 A - PM20D1 0.001 0 0 0 1 0 0 0 0 0 0 0 153767 chr2 242149940 242149940 C T ANO7 Nonsynonymous SNV L506F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.6 153768 chr2 242154283 242154283 C T ANO7 Stop gain Q598X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 40 153769 chr20 57766738 57766738 G A ZNF831 Nonsynonymous SNV E222K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 153770 chr20 58560134 58560134 G A rs147817557 CDH26 Nonsynonymous SNV V263M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 153771 chr1 1229552 1229552 G A ACAP3 Synonymous SNV L723L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.069 153772 chr11 63519992 63519992 G A rs113891559 RTN3 Nonsynonymous SNV V122I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 153773 chr1 935128 935128 T C rs781051403 HES4 Nonsynonymous SNV I76V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.3 153774 chr1 211256136 211256136 A T rs749800577 KCNH1 Nonsynonymous SNV S182T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 153775 chr20 5963737 5963737 A G rs571998244 MCM8 Synonymous SNV R506R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.296 153776 chr20 43804721 43804721 G A rs553204293 PI3 Nonsynonymous SNV G100E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.5 153777 chr1 13839770 13839770 C T rs149475966 LRRC38 Nonsynonymous SNV V107M 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 26.4 153778 chr20 60791324 60791324 G A HRH3 Nonsynonymous SNV S359L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 153779 chr2 27440808 27440808 T C CAD Nonsynonymous SNV I49T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 26.9 153780 chr20 60902622 60902622 G A rs538346492 LAMA5 Nonsynonymous SNV T1634M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 153781 chr2 28635041 28635041 C T rs143256884 FOSL2 Nonsynonymous SNV A236V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 16.19 153782 chr1 146672745 146672745 T C rs56134376 FMO5 Nonsynonymous SNV Q391R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 6.452 153783 chr20 45242302 45242302 C T rs146455008 SLC13A3 Synonymous SNV P58P 0.003 0 0 0 4 0 0 0 0 0 0 0 13.95 153784 chr20 45905081 45905081 A G rs534613736 ZMYND8 Nonsynonymous SNV M461T 0.003 0 0 0 4 0 0 0 0 0 0 0 16.57 153785 chr10 22880693 22880693 G A rs529609009 PIP4K2A Synonymous SNV S60S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.84 153786 chr10 23729174 23729174 C T rs749645076 OTUD1 Nonsynonymous SNV P263L 0 0 0 5 0 0 0.013 0 0 0 0 0 18.73 153787 chr1 53553714 53553714 G A rs140010762 SLC1A7 Synonymous SNV T609T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.267 153788 chr10 26454999 26454999 C - rs746055369 MYO3A Y1002Tfs*13 0 0 0 7 0 0 0.018 0 0 0 0 0 153789 chr2 31399918 31399918 A C rs562117174 CAPN14 Nonsynonymous SNV L649W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 153790 chr20 61982302 61982302 G A rs121912244 CHRNA4 Nonsynonymous SNV P154L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 29.5 153791 chr11 33076209 33076209 A G rs78690604 TCP11L1 Synonymous SNV L78L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.174 153792 chr11 33090345 33090345 G A TCP11L1 Nonsynonymous SNV V423M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.2 153793 chr1 55273627 55273627 A G LEXM Synonymous SNV P141P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.176 153794 chr2 37297427 37297427 T C rs550919621 HEATR5B Synonymous SNV E291E 0.003 0 0 0 4 0 0 0 0 0 0 0 7.416 153795 chr19 11489212 11489212 C T rs748035060 EPOR Synonymous SNV E325E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.009 153796 chr19 11577598 11577598 G A rs62000391 ELAVL3 Synonymous SNV A18A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.5 153797 chr10 33496609 33496609 C T NRP1 Synonymous SNV E550E 0 0 0 5 0 0 0.013 0 0 0 0 0 14.04 153798 chr20 8000219 8000219 C G rs553111342 TMX4 Synonymous SNV L14L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.899 153799 chr20 21695381 21695381 G C rs11908163 PAX1 Synonymous SNV P515P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 4.696 153800 chr20 2193675 2193675 G C rs41310179 LOC388780 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.179 153801 chr1 226034909 226034909 G A rs41441645 TMEM63A Synonymous SNV Y752Y 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 9.273 153802 chr19 13227010 13227010 A G TRMT1 Synonymous SNV S68S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.823 153803 chr2 47703561 47703561 C G rs63750032 MSH2 Synonymous SNV L687L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 10.44 153804 chr10 46143767 46143767 G A rs140671460 ZFAND4 Nonsynonymous SNV R182W 0 0 0 2 0 0 0.005 0 0 0 0 0 16.05 153805 chr1 155112637 155112637 C G DPM3 Nonsynonymous SNV G57A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 153806 chr20 24950874 24950874 T C rs115793571 APMAP Synonymous SNV R224R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.499 153807 chr21 28338314 28338314 G T rs566023250 ADAMTS5 Synonymous SNV R133R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.52 153808 chr20 24994614 24994614 C T rs112683865 ACSS1 Nonsynonymous SNV V358I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.11 153809 chr11 71259991 71259991 C G rs200091258 KRTAP5-9 Nonsynonymous SNV C96W 0 0.005 0 2 0 2 0.005 0 0 0 0 0 23.5 153810 chr1 6589156 6589156 C T rs150821604 NOL9 Nonsynonymous SNV A575T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 32 153811 chr11 72297209 72297209 C T rs139844982 PDE2A Nonsynonymous SNV E356K 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 23.7 153812 chr10 47000231 47000231 G A rs782123409 GPRIN2 Nonsynonymous SNV G451S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.3 153813 chr20 30053334 30053334 G A rs114054017 DEFB124 Nonsynonymous SNV P64L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.033 153814 chr2 63176075 63176075 G A rs111706386 EHBP1 Synonymous SNV E698E 0.008 0.013 0.017 5 9 5 0.013 5 0 1 0 0 11 153815 chr2 63176179 63176179 A G rs140508263 EHBP1 Nonsynonymous SNV Y733C 0.008 0.013 0.017 5 9 5 0.013 5 0 1 0 0 13.22 153816 chr1 228528271 228528271 A T OBSCN Nonsynonymous SNV H5827L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 153817 chr21 35772996 35772996 C G rs182813268 FAM243A, FAM243B Nonsynonymous SNV E125D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.015 153818 chr19 15586846 15586846 G A rs374467861 PGLYRP2 Nonsynonymous SNV P212L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.186 153819 chr20 31040080 31040080 A G rs1010974412 NOL4L Nonsynonymous SNV L350P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 153820 chr2 65296843 65296843 G A rs201901465 CEP68 Nonsynonymous SNV E89K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 153821 chr20 31547898 31547898 G A rs59681625 EFCAB8 Synonymous SNV K1108K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.02 153822 chr20 31583439 31583439 C T rs17123951 SUN5 Nonsynonymous SNV A174T 0.003 0 0 0 3 0 0 0 0 0 0 0 33 153823 chr10 50531905 50531905 C A rs201896971 C10orf71 Nonsynonymous SNV P439T 0 0 0 2 0 0 0.005 0 0 0 0 0 18.77 153824 chr1 231472235 231472235 G A EXOC8 Synonymous SNV I419I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.137 153825 chr1 231829667 231829667 G A rs367627719 DISC1 Nonsynonymous SNV G55R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 153826 chr2 71192106 71192106 - G ATP6V1B1 Frameshift insertion V467Gfs*44 0.002 0 0 1 2 0 0.003 0 0 0 0 0 153827 chr19 17322946 17322946 G C rs761484115 MYO9B Nonsynonymous SNV A2101P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 153828 chr1 861369 861369 G A rs757442420 SAMD11 Synonymous SNV P16P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.57 153829 chr2 75425942 75425942 G A TACR1 Nonsynonymous SNV T40M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 153830 chr1 158747043 158747043 C G rs140526095 OR6N2 Nonsynonymous SNV R128P 0.006 0.008 0.017 6 7 3 0.015 5 0 0 0 0 26.4 153831 chr2 75933766 75933766 G A GCFC2 Nonsynonymous SNV L93F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.872 153832 chr20 42213544 42213544 T C SGK2 Nonsynonymous SNV V391A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 153833 chr21 45079563 45079563 G A rs370713488 RRP1B Synonymous SNV Q6Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.99 153834 chr11 96116538 96116538 C T rs146108139 CCDC82 Nonsynonymous SNV D296N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 153835 chr1 160253385 160253385 G A rs144256391 PEX19 Nonsynonymous SNV P39S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.14 153836 chr1 160393927 160393927 C T VANGL2 Nonsynonymous SNV P387S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 153837 chr11 100998472 100998472 C A rs11571150 PGR Nonsynonymous SNV A444S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.2 153838 chr21 45553645 45553645 C A GATD3A, GATD3B Synonymous SNV S22S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.88 153839 chr11 101775633 101775633 G A rs141521322 ANGPTL5 Synonymous SNV N117N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 10.62 153840 chr21 45741713 45741713 A G rs376101376 PFKL Synonymous SNV T431T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.005 153841 chr1 90179652 90179652 C A rs140914343 LRRC8C Nonsynonymous SNV P508H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.12 153842 chr1 9100228 9100228 G C rs775990072 SLC2A5 Nonsynonymous SNV L51V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.048 153843 chr21 30953801 30953801 T C rs768571511 GRIK1 Nonsynonymous SNV N480S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 153844 chr1 164761858 164761858 - GCG rs774278800 PBX1 A52_S53insA 0.001 0 0 0 1 0 0 0 0 0 0 0 153845 chr1 241798555 241798555 C T rs144595616 CHML Nonsynonymous SNV V172I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.016 153846 chr1 164789316 164789316 C A PBX1 Synonymous SNV S252S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 153847 chr2 97355475 97355475 G A rs200820148 FER1L5 Nonsynonymous SNV A874T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.06 153848 chr1 245019213 245019213 T C rs755956048 HNRNPU Synonymous SNV R701R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.684 153849 chr1 24664239 24664239 C G rs34593559 GRHL3 Nonsynonymous SNV A221G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.67 153850 chr19 2851583 2851583 T C rs372993869 ZNF555 Nonsynonymous SNV V83A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 153851 chr10 85910470 85910470 A G rs575209981 GHITM Nonsynonymous SNV M263V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 153852 chr1 24706304 24706304 A T rs148922346 STPG1 Nonsynonymous SNV L54M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 153853 chr19 3282231 3282231 C T rs200411650 CELF5 Synonymous SNV N286N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 153854 chr1 247836074 247836074 T A rs28402945 OR13G1 Synonymous SNV S90S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.223 153855 chr22 19748723 19748723 G C rs745762053 TBX1 Synonymous SNV V110V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.33 153856 chr19 34302442 34302442 G T rs747020512 KCTD15 Synonymous SNV R226R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.23 153857 chr19 34972892 34972892 A C rs12609305 WTIP Synonymous SNV R5R 0.005 0 0.014 0 6 0 0 4 3 0 2 0 0.269 153858 chr22 20760157 20760157 C G rs750614730 ZNF74 Nonsynonymous SNV C207W 0.002 0.008 0 7 2 3 0.018 0 0 1 0 0 24.4 153859 chr10 95109605 95109605 T G rs757862761 MYOF Nonsynonymous SNV K1335T 0 0 0 3 0 0 0.008 0 0 0 0 0 29.8 153860 chr19 3586840 3586840 G A rs141293401 GIPC3 Nonsynonymous SNV R147Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 23.4 153861 chr1 248153817 248153817 T - rs200338842 OR2L1P 0.003 0.005 0 0 3 2 0 0 0 1 0 0 153862 chr1 248153901 248153901 C T rs113862338 OR2L1P 0.004 0.008 0 0 5 3 0 0 0 1 0 0 12.28 153863 chr1 248185339 248185339 T C rs61748759 OR2L5 Synonymous SNV F30F 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.003 153864 chr19 36034087 36034087 C G TMEM147-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.259 153865 chr1 24859587 24859587 C T rs34116411 RCAN3 Synonymous SNV G70G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.71 153866 chr1 248685352 248685352 T C rs114992410 OR2G6 Synonymous SNV I135I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 153867 chr1 248685421 248685421 T G rs116214494 OR2G6 Nonsynonymous SNV I158M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 153868 chr20 20209015 20209015 A G rs754952893 CFAP61 Synonymous SNV V685V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.239 153869 chr1 248685830 248685831 AA - rs139958354 OR2G6 K295Rfs*13 0.002 0 0 0 2 0 0 0 0 0 0 0 153870 chr20 60966322 60966322 C T rs201701496 CABLES2 Nonsynonymous SNV V427M 0.003 0 0 0 3 0 0 0 0 0 0 0 28.7 153871 chr19 36435628 36435628 G A rs745952887 LRFN3 Nonsynonymous SNV A532T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 153872 chr1 248790269 248790269 G T rs61733992 OR2T11 Nonsynonymous SNV T54N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 153873 chr1 180031380 180031380 C G CEP350 Nonsynonymous SNV A1763G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 153874 chr1 249151611 249151611 C T rs34555325 ZNF692 Synonymous SNV G104G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.384 153875 chr1 24996682 24996682 C G rs138138056 SRRM1 Nonsynonymous SNV P674R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 153876 chr20 61833794 61833794 T G YTHDF1 Nonsynonymous SNV K500Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 153877 chr1 2528124 2528124 A G rs140870456 MMEL1 Nonsynonymous SNV L426P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 153878 chr20 25271125 25271125 C G PYGB Synonymous SNV P612P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 153879 chr1 182369503 182369503 A G TEDDM1 Synonymous SNV L40L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.81 153880 chr10 102587428 102587428 C G rs201495362 PAX2 Nonsynonymous SNV I406M 0.002 0.013 0 6 2 5 0.015 0 0 0 0 0 19.74 153881 chr1 31409634 31409634 A G rs56143291 PUM1 Synonymous SNV A1097A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 5.015 153882 chr20 62705620 62705620 G A rs370731911 RGS19 Synonymous SNV S113S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.53 153883 chr10 105207194 105207194 C T rs143953619 CALHM2 Synonymous SNV Q229Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 9.846 153884 chr1 32740991 32740991 G T rs777531211 LCK Synonymous SNV V116V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 153885 chr22 31487148 31487148 G A rs866181605 SMTN Nonsynonymous SNV G436D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.63 153886 chr20 858964 858964 C T rs773811714 ANGPT4 Nonsynonymous SNV G354R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 153887 chr22 20102160 20102160 G A TRMT2A Synonymous SNV D390D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.22 153888 chr1 33960663 33960663 G A rs34415949 ZSCAN20 Nonsynonymous SNV E907K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 153889 chr10 112572458 112572458 G T rs1417635 RBM20 Nonsynonymous SNV W768L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 0.028 153890 chr22 21140415 21140415 C A rs768871940 SERPIND1 Nonsynonymous SNV D429E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 153891 chr10 114428700 114428700 G A rs755885630 VTI1A Nonsynonymous SNV R168Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 153892 chr22 35481455 35481455 G T rs199896807 ISX Synonymous SNV T169T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.54 153893 chr11 63488392 63488392 C A rs759095110 RTN3 Synonymous SNV S694S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.01 153894 chr1 35227306 35227306 C A rs78499418 GJB4 Nonsynonymous SNV R151S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 153895 chr21 30339241 30339241 C T rs144950236 LTN1 Synonymous SNV K524K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.12 153896 chr11 63994463 63994463 G A rs1026093250 NUDT22 Synonymous SNV T113T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.851 153897 chr1 35847308 35847308 G A rs551880 ZMYM4 Synonymous SNV E182E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.417 153898 chr11 64051756 64051756 C T rs151235996 BAD Nonsynonymous SNV D29N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.9 153899 chr22 37154436 37154436 G A rs143144562 IFT27 Synonymous SNV F160F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 4.905 153900 chr1 200569192 200569192 T C rs762513626 KIF14 Nonsynonymous SNV T293A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 153901 chr1 36642361 36642361 C T rs61737153 MAP7D1 Nonsynonymous SNV R396W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 34 153902 chr10 116059031 116059031 G C rs147589341 AFAP1L2 Nonsynonymous SNV L618V 0.009 0 0.003 2 10 0 0.005 1 1 0 0 0 0.002 153903 chr1 36809726 36809726 A G rs56317061 STK40 Synonymous SNV I298I 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Benign 9.93 153904 chr10 119003546 119003546 G A rs11568722 SLC18A2 Synonymous SNV T62T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 7.02 153905 chr22 26164836 26164836 G C rs369889484 MYO18B Nonsynonymous SNV W318S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 153906 chr1 201821312 201821312 A G rs772463340 IPO9 Nonsynonymous SNV M199V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 153907 chr12 6562322 6562322 G A rs751347897 TAPBPL Nonsynonymous SNV A52T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 153908 chr19 44097205 44097205 G A IRGQ Nonsynonymous SNV T282M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.778 153909 chr1 40218695 40218695 G A rs72665281 PPIE Nonsynonymous SNV E270K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 153910 chr21 38610844 38610844 C T VPS26C Nonsynonymous SNV E42K 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 30 153911 chr12 6976700 6976700 C T rs200692430 TPI1 Synonymous SNV D27D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.74 153912 chr12 7046413 7046413 G T ATN1 Synonymous SNV S661S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 153913 chr3 13670698 13670698 C T rs370478394 FBLN2 Synonymous SNV C869C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 153914 chr22 39966862 39966862 G A rs376772325 CACNA1I Synonymous SNV P35P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.64 153915 chr12 7807217 7807217 C T rs148640043 APOBEC1 Nonsynonymous SNV G10S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.75 153916 chr3 137881096 137881096 T C rs778042105 DBR1 Nonsynonymous SNV I424V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 153917 chr22 41747576 41747576 G A rs75005031 ZC3H7B Nonsynonymous SNV E654K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 153918 chr11 66331560 66331560 T A rs746189450 CTSF Nonsynonymous SNV K460M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 153919 chr11 66394036 66394036 G A RBM14 Nonsynonymous SNV R636H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 153920 chr1 204588493 204588493 G A rs141989916 LRRN2 Nonsynonymous SNV R210W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.8 153921 chr11 66474990 66474990 C T SPTBN2 Nonsynonymous SNV M550I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 153922 chr11 67177174 67177174 - C rs749097219 TBC1D10C Frameshift insertion R332Qfs*21 0.001 0.003 0 0 1 1 0 0 0 0 0 0 153923 chr11 67232147 67232147 A G rs780445403 TMEM134 Nonsynonymous SNV Y161H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 153924 chr11 67257523 67257523 C G AIP Synonymous SNV G102G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 9.807 153925 chr21 43802337 43802337 G A rs147181936 TMPRSS3 Synonymous SNV Y136Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.327 153926 chr19 4499517 4499517 A G HDGFL2 Synonymous SNV V535V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.943 153927 chr1 205813329 205813329 G T rs201095867 PM20D1 Nonsynonymous SNV A198D 0.001 0 0 0 1 0 0 0 0 0 0 0 30 153928 chr3 14756802 14756802 A G rs139293529 C3orf20 Synonymous SNV P318P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.683 153929 chr12 10163381 10163381 C T rs11833101 CLEC12B Nonsynonymous SNV A8V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.7 153930 chr1 46752046 46752046 G A rs761381554 LRRC41 Synonymous SNV S161S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.558 153931 chr21 45511810 45511810 T C rs373054987 TRAPPC10 Synonymous SNV Y492Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.165 153932 chr1 47489504 47489504 G T rs752663632 CYP4X1 Nonsynonymous SNV W5C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 153933 chr1 207639947 207639947 C T rs139230710 CR2 Synonymous SNV T45T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.78 153934 chr22 45608215 45608215 G A rs150665432 KIAA0930 Stop gain Q4X 0.01 0.029 0.02 0 12 11 0 6 1 0 0 0 23.3 153935 chr12 11061829 11061829 G T rs767672649 TAS2R13 Nonsynonymous SNV S23R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.3 153936 chr12 11091149 11091149 C T rs773473266 PRH1-TAS2R14, TAS2R14 Nonsynonymous SNV G220R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 153937 chr22 35804437 35804437 G A rs367908521 MCM5 Synonymous SNV P211P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.9 153938 chr20 60892538 60892538 G A rs146174815 LAMA5 Synonymous SNV A2458A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 10.87 153939 chr22 36745254 36745254 G A MYH9 Nonsynonymous SNV L10F 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 153940 chr1 52991830 52991830 G A rs754832132 TUT4 Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 153941 chr22 37328913 37328913 G A rs144452731 CSF2RB Synonymous SNV E373E 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 7.531 153942 chr22 37455454 37455454 C T rs748740845 KCTD17 Synonymous SNV S203S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.16 153943 chr21 46888581 46888581 G A rs780717066 COL18A1 Nonsynonymous SNV V358M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 17.14 153944 chr11 73688054 73688054 T A UCP2 Nonsynonymous SNV I116F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.6 153945 chr1 21072039 21072039 C T rs770760810 HP1BP3 Nonsynonymous SNV R455K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 153946 chr20 61048460 61048460 A G rs116164480 GATA5 Nonsynonymous SNV L233P 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Likely benign 23.3 153947 chr22 50537980 50537980 G T MOV10L1 Nonsynonymous SNV A131S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.35 153948 chr1 55062960 55062960 G A rs2304305 ACOT11 Nonsynonymous SNV M212I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 153949 chr19 47153082 47153082 C T DACT3 Nonsynonymous SNV V183M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 153950 chr21 47663599 47663599 G A rs376583195 MCM3AP Synonymous SNV Y1692Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 1.681 153951 chr1 55168298 55168298 G A rs3765018 MROH7 Synonymous SNV K666K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 2.813 153952 chr21 47665082 47665082 G C rs766678097 MCM3AP Synonymous SNV S1559S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.363 153953 chr1 55168394 55168394 A G rs3765017 MROH7 Synonymous SNV T698T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.001 153954 chr19 48339595 48339595 G A rs61748438 CRX Nonsynonymous SNV V66I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.33 153955 chr3 172080435 172080435 G A rs765728187 FNDC3B Synonymous SNV Q936Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.13 153956 chr3 17208366 17208366 C T rs369942333 TBC1D5 Nonsynonymous SNV E527K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 153957 chr2 100210611 100210611 G C rs146485516 AFF3 Synonymous SNV V529V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 153958 chr11 607082 607082 G C rs202034943 PHRF1 Nonsynonymous SNV Q542H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.31 153959 chr11 608991 608991 C T rs555964793 PHRF1 Nonsynonymous SNV R1179W 0 0 0 1 0 0 0.003 0 0 0 0 0 25 153960 chr22 39777907 39777907 G A rs143384592 SYNGR1 Synonymous SNV S230S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 14.55 153961 chr19 48994704 48994704 G A LMTK3 Synonymous SNV P1424P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 153962 chr22 41928701 41928701 A G rs372157291 POLR3H Nonsynonymous SNV I86T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.58 153963 chr22 42394874 42394874 A G rs200910750 WBP2NL Nonsynonymous SNV N18D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.441 153964 chr11 86152477 86152477 G A rs769718958 ME3 Synonymous SNV L553L 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 9.122 153965 chr11 86518851 86518851 G A rs143933691 PRSS23 Nonsynonymous SNV E56K 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 5.433 153966 chr22 43539335 43539335 C T rs774125780 MCAT Nonsynonymous SNV R7Q 0.005 0 0 0 6 0 0 0 0 0 0 0 23.8 153967 chr22 43570583 43570583 G A rs115376417 TTLL12 Nonsynonymous SNV T319I 0.005 0 0 0 6 0 0 0 0 0 0 0 23.9 153968 chr11 93844989 93844989 C T rs117805838 HEPHL1 Nonsynonymous SNV L1137F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.577 153969 chr19 50155436 50155436 G T SCAF1 Nonsynonymous SNV S597I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 153970 chr3 186370192 186370192 T C rs144733906 FETUB Synonymous SNV L242L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 0.443 153971 chr2 11354539 11354539 C T rs200475392 ROCK2 Nonsynonymous SNV A577T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.65 153972 chr3 186944285 186944285 C T rs751292648 MASP1 Nonsynonymous SNV A489T 0.003 0 0 3 4 0 0.008 0 0 0 0 0 29.3 153973 chr3 194062808 194062808 G T rs369711432 CPN2 Synonymous SNV L208L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.433 153974 chr21 36079628 36079628 C T rs186013554 CLIC6 Synonymous SNV L475L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.746 153975 chr22 50664780 50664780 C G rs541009659 TUBGCP6 Synonymous SNV G543G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.88 153976 chr19 51984813 51984813 C T rs201866900 CEACAM18 Synonymous SNV T189T 0 0 0.007 0 0 0 0 2 0 0 0 0 7.01 153977 chr12 49412460 49412460 - G rs539157024 DDN-AS1 0 0.003 0 1 0 1 0.003 0 0 0 0 0 153978 chr11 108384666 108384666 T C rs12146512 EXPH5 Nonsynonymous SNV H335R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.003 153979 chr12 49498593 49498593 A G rs147843318 LMBR1L Synonymous SNV N89N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.155 153980 chr2 128631685 128631685 G A rs113686391 AMMECR1L Nonsynonymous SNV P42S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.82 153981 chr1 231335934 231335934 G A rs186591198 TRIM67 Nonsynonymous SNV R435H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.4 153982 chr22 30766366 30766366 G A rs143249037 CCDC157 Nonsynonymous SNV E158K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.8 153983 chr12 50748169 50748169 T G rs146850695 FAM186A Nonsynonymous SNV K816Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.98 153984 chr11 1262643 1262643 G C rs758332824 MUC5B Nonsynonymous SNV E1511D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 5.343 153985 chr22 30803123 30803123 A G rs140683265 SEC14L2 Nonsynonymous SNV I18V 0.005 0 0 0 6 0 0 0 0 0 0 0 5.425 153986 chr22 30857329 30857329 T A rs114566165 SEC14L3 Nonsynonymous SNV D350V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 29.8 153987 chr2 102480456 102480456 G A rs763083141 MAP4K4 Synonymous SNV A595A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.01 153988 chr3 30875717 30875717 G A GADL1 Synonymous SNV G320G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.66 153989 chr1 235577815 235577815 A G rs143886167 TBCE Nonsynonymous SNV I85V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 153990 chr1 235944226 235944226 C T rs369847918 LYST Nonsynonymous SNV R1718Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.94 153991 chr11 2427937 2427937 G A rs374963258 TRPM5 Nonsynonymous SNV R1069W 0 0 0 4 0 0 0.01 0 0 0 0 0 24 153992 chr3 38151767 38151767 C T rs766984051 DLEC1 Synonymous SNV T1149T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.49 153993 chr11 4411527 4411527 T C rs199774486 TRIM21 Nonsynonymous SNV E38G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.39 153994 chr19 54313927 54313927 C T rs144287432 NLRP12 Nonsynonymous SNV R329Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.28 153995 chr2 112849295 112849295 A G rs776783372 TMEM87B Nonsynonymous SNV N347D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 153996 chr2 15470788 15470788 C T rs141376041 NBAS Synonymous SNV A1427A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.8 153997 chr1 94048388 94048388 C A rs780475040 BCAR3 Nonsynonymous SNV A62S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.306 153998 chr2 11484160 11484160 G C rs201281924 ROCK2 Nonsynonymous SNV R35G 0.004 0 0 0 5 0 0 0 0 0 0 0 22.8 153999 chr21 47545400 47545400 C A COL6A2 Nonsynonymous SNV A613D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 154000 chr3 42244196 42244196 A T TRAK1 Nonsynonymous SNV S492C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 154001 chr21 47737945 47737945 G A rs756981329 C21orf58 Nonsynonymous SNV T97M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 154002 chr2 119727904 119727904 T C rs141812237 MARCO Synonymous SNV T138T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.986 154003 chr2 121043617 121043617 A G RALB Synonymous SNV S94S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.7 154004 chr22 41257589 41257589 A C DNAJB7 Nonsynonymous SNV F137C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.493 154005 chr12 54349085 54349085 G C rs34894813 HOXC12 Synonymous SNV L124L 0.003 0.005 0.007 5 3 2 0.013 2 0 0 0 0 7.034 154006 chr19 56029371 56029371 C T rs199879378 SSC5D Nonsynonymous SNV T1243M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 154007 chr20 1592048 1592048 G C rs45545343 SIRPB1 Nonsynonymous SNV H130D 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 154008 chr20 1592049 1592049 G A rs771059397 SIRPB1 Synonymous SNV D129D 0.002 0 0 0 2 0 0 0 1 0 0 0 0.03 154009 chr22 18370137 18370137 G A rs771528217 MICAL3 Synonymous SNV S652S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 12.13 154010 chr2 131487578 131487578 T G rs752228070 GPR148 Nonsynonymous SNV V285G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 154011 chr20 16496235 16496235 C G rs200883010 KIF16B Synonymous SNV G102G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.683 154012 chr22 43616575 43616575 A G SCUBE1 Nonsynonymous SNV F523S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 154013 chr22 21288349 21288349 T C rs141971963 CRKL Synonymous SNV Y198Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.127 154014 chr1 248366632 248366632 G T rs139107079 OR2M3 Nonsynonymous SNV G88V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 154015 chr2 136610399 136610399 A G rs146955750 MCM6 Synonymous SNV D571D 0.003 0 0 0 4 0 0 0 0 0 0 0 7.524 154016 chr22 45723902 45723902 G C rs149599782 FAM118A Nonsynonymous SNV Q160H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.36 154017 chr22 45723920 45723920 C T rs111386114 FAM118A Synonymous SNV S166S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 12.81 154018 chr2 177034285 177034285 A G rs770715960 HOXD3 Nonsynonymous SNV N148S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.6 154019 chr1 24981445 24981445 C G SRRM1 Nonsynonymous SNV S297R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 154020 chr2 179458400 179458400 T G TTN Nonsynonymous SNV K10478Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.14 154021 chr20 2464835 2464835 T C ZNF343 Nonsynonymous SNV T168A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 154022 chr12 65152909 65152909 C T rs776163695 GNS Nonsynonymous SNV V50M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 154023 chr3 49455030 49455030 C G rs972972652 AMT Nonsynonymous SNV Q341H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.29 154024 chr1 26349373 26349373 G C rs147365470 EXTL1 Nonsynonymous SNV S79T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 154025 chr19 57955186 57955186 - A rs771872716 ZNF749 Stop gain Y137* 0 0 0.003 1 0 0 0.003 1 0 0 0 0 154026 chr1 26515261 26515261 A G rs144821580 CNKSR1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.7 154027 chr3 49711974 49711974 G T rs1033553826 APEH Nonsynonymous SNV R22L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.5 154028 chr20 2559842 2559842 C T TMC2 Synonymous SNV I232I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 154029 chr20 2593857 2593857 G A rs146684109 TMC2 Synonymous SNV T587T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.57 154030 chr3 50395926 50395926 G T rs143021589 TMEM115 Nonsynonymous SNV A190E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.84 154031 chr20 29977016 29977016 C T rs142077212 DEFB119 Nonsynonymous SNV G26R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.5 154032 chr20 30414711 30414711 C T rs767402714 MYLK2 Synonymous SNV H398H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 154033 chr19 59093603 59093603 - A rs761380928 CENPBD1P1 0 0 0.02 0 0 0 0 6 0 0 0 0 154034 chr2 160697245 160697245 G C rs142338826 LY75, LY75-CD302 Nonsynonymous SNV Q1168E 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 14.48 154035 chr11 6636156 6636156 G T TPP1 Nonsynonymous SNV P498T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 154036 chr22 29876332 29876332 G A rs527626972 NEFH Synonymous SNV A27A 0 0.005 0 0 0 2 0 0 0 0 0 0 12.68 154037 chr1 28337578 28337578 T C rs369301179 EYA3 Synonymous SNV P217P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.566 154038 chr1 28919162 28919162 G A rs894726074 RAB42 Nonsynonymous SNV V47M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 154039 chr1 29320008 29320008 G A rs746430671 EPB41 Nonsynonymous SNV C212Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28 154040 chr12 80732927 80732927 A C rs370854304 OTOGL Nonsynonymous SNV M1636L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 154041 chr3 52840151 52840151 T C rs763054711 ITIH3 Nonsynonymous SNV Y647H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.03 154042 chr1 32089307 32089307 G A rs200023428 HCRTR1 Nonsynonymous SNV A308T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.6 154043 chr20 33148708 33148708 C T rs531421778 PIGU Nonsynonymous SNV A424T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 154044 chr22 50988140 50988140 C T rs780031451 KLHDC7B Synonymous SNV T1156T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.816 154045 chr3 53736791 53736791 C T rs145203578 CACNA1D Synonymous SNV I448I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 11.67 154046 chr3 53905397 53905397 G A rs769409988 ACTR8 Stop gain Q477X 0.001 0 0 3 1 0 0.008 0 0 0 0 0 39 154047 chr2 100919483 100919483 G A rs765291514 LONRF2 Nonsynonymous SNV A274V 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 18.3 154048 chr2 197761876 197761876 A G rs138525017 PGAP1 Synonymous SNV L302L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 2.908 154049 chr3 58487257 58487257 G A rs112724944 KCTD6 Synonymous SNV T204T 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 9.635 154050 chr12 9261986 9261986 T C A2M Nonsynonymous SNV E80G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 154051 chr2 170413753 170413753 C T FASTKD1 Synonymous SNV L319L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 154052 chr1 36551522 36551522 G A rs375676685 TEKT2 Nonsynonymous SNV R123Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 154053 chr20 3725729 3725729 C A rs771590822 HSPA12B Nonsynonymous SNV S63R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 154054 chr12 96691054 96691054 G A rs750921078 CDK17 Synonymous SNV N289N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.48 154055 chr19 8564373 8564373 G A rs200799156 PRAM1 Nonsynonymous SNV P107S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 154056 chr1 3807590 3807590 C T rs111405753 C1orf174 Nonsynonymous SNV R54Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 154057 chr20 419894 419894 T C rs776916536 TBC1D20 Nonsynonymous SNV M272V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 154058 chr19 8996452 8996452 C T MUC16 Nonsynonymous SNV C13707Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 154059 chr22 37695300 37695300 C T rs527608462 CYTH4 Synonymous SNV F72F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 154060 chr1 39759267 39759267 C T rs375978863 MACF1 Synonymous SNV I715I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 154061 chr3 9870716 9870716 G C rs201426371 ARPC4-TTLL3, TTLL3 Synonymous SNV P540P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.16 154062 chr2 113539363 113539363 C G rs145940804 IL1A Nonsynonymous SNV G46A 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 0.002 154063 chr2 209104699 209104699 G A IDH1 Synonymous SNV S293S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.02 154064 chr22 41751480 41751480 C T rs570159570 ZC3H7B Nonsynonymous SNV P681L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 154065 chr22 42607953 42607953 C T rs142211574 TCF20 Nonsynonymous SNV R1120Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.1 154066 chr2 210561640 210561640 G A MAP2 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24 154067 chr2 179642538 179642538 A C TTN Nonsynonymous SNV V1412G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.08 154068 chr2 182344921 182344921 T C ITGA4 Nonsynonymous SNV Y228H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 154069 chr1 45524343 45524343 G A rs529882617 ZSWIM5 Nonsynonymous SNV T397I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 154070 chr20 55206696 55206696 G T rs546931242 TFAP2C Nonsynonymous SNV A162S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 154071 chr12 114397160 114397160 C T rs151212724 RBM19 Nonsynonymous SNV R143Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 34 154072 chr2 218686643 218686643 T A rs112371945 TNS1 Nonsynonymous SNV E1006V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 32 154073 chr22 46655108 46655108 A G rs148212610 PKDREJ Nonsynonymous SNV M1371T 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 0.055 154074 chr12 32133908 32133908 C A rs150927474 RESF1 Nonsynonymous SNV P7T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.6 154075 chr20 57767066 57767066 C T ZNF831 Nonsynonymous SNV A331V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 154076 chr11 31822266 31822266 T A rs141021880 PAX6 Nonsynonymous SNV T30S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.04 154077 chr1 100340250 100340250 G A rs199905460 AGL Synonymous SNV R322R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.907 154078 chr1 52882353 52882353 G A PRPF38A Synonymous SNV G310G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 154079 chr11 33565458 33565458 T C KIAA1549L Synonymous SNV I783I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.006 154080 chr2 220088394 220088394 G A ATG9A Synonymous SNV F504F 0.003 0 0 0 3 0 0 0 0 0 0 0 6.635 154081 chr1 10459182 10459182 A G rs200854760 PGD Nonsynonymous SNV Q3R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.7 154082 chr2 1946771 1946779 TCCTCCTCC - rs757826524 MYT1L E165_E167del 0.002 0 0 0 2 0 0 0 0 0 0 0 154083 chr11 44079961 44079961 T - rs773104530 ACCSL H476Tfs*13 0 0 0 2 0 0 0.005 0 0 0 0 0 154084 chr2 220432656 220432656 C T rs202247360 OBSL1 Nonsynonymous SNV V440I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 25.5 154085 chr2 225698978 225698978 G A rs372046210 DOCK10 Synonymous SNV F945F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.18 154086 chr20 62200265 62200265 G A rs111418552 HELZ2 Synonymous SNV Y392Y 0.004 0 0 0 5 0 0 0 0 0 0 0 0.151 154087 chr11 47611791 47611791 T C rs201749016 C1QTNF4 Nonsynonymous SNV D191G 0.008 0.005 0.003 5 9 2 0.013 1 0 0 0 0 24.1 154088 chr1 11249980 11249980 A G rs202182115 ANGPTL7 Nonsynonymous SNV Q115R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.2 154089 chr4 1397300 1397300 G A rs537696025 NKX1-1 Nonsynonymous SNV A256V 0.003 0 0 0 3 0 0 0 0 0 0 0 20.9 154090 chr20 62904845 62904845 G A rs144823949 PCMTD2 Synonymous SNV P299P 0.003 0 0.01 3 4 0 0.008 3 0 0 0 0 8.955 154091 chr2 162359722 162359722 A T rs527373516 AHCTF1P1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.985 154092 chr2 233412960 233412960 C G TIGD1 Nonsynonymous SNV A545P 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.833 154093 chr12 132395264 132395264 C T rs143119597 ULK1 Synonymous SNV P289P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.505 154094 chr2 234229396 234229396 C T rs376397466 SAG Nonsynonymous SNV A101V 0.007 0 0 3 8 0 0.008 0 0 0 0 0 12.87 154095 chr4 152054324 152054324 C T rs372532779 SH3D19 Nonsynonymous SNV E535K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 154096 chr12 52967356 52967356 C T rs751221409 KRT74 Nonsynonymous SNV R69Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.05 154097 chr1 118166000 118166000 C T rs138953844 TENT5C Synonymous SNV V170V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 154098 chr21 30257652 30257652 A G rs61735766 N6AMT1 Nonsynonymous SNV F6L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.014 154099 chr21 30433876 30433876 C T rs8129954 CCT8 Nonsynonymous SNV V336I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 22.9 154100 chr2 209190797 209190797 T A PIKFYVE Nonsynonymous SNV S1088T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 154101 chr21 32119335 32119335 T G rs545702314 KRTAP21-2 Synonymous SNV G62G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.057 154102 chr12 53453014 53453014 G A rs186505042 TNS2 Nonsynonymous SNV R540Q 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 25.2 154103 chr13 23898541 23898541 A G rs377625551 SGCG Nonsynonymous SNV K246R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.564 154104 chr1 120054199 120054199 C A HSD3B1 Stop gain C73X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 154105 chr2 21228171 21228171 C T rs145655926 APOB Nonsynonymous SNV V3857M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.707 154106 chr1 12348368 12348368 T C rs376670648 VPS13D Nonsynonymous SNV I1908T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.5 154107 chr4 164087577 164087577 G A rs35410130 NAF1 Synonymous SNV A101A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 11.41 154108 chr12 55356623 55356623 C A rs774052805 TESPA1 Nonsynonymous SNV L144F 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 18.24 154109 chr2 179613179 179613179 G A rs149748934 TTN Nonsynonymous SNV P4650S 0.006 0 0.003 0 7 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.791 154110 chr1 87188284 87188284 G A rs939172634 SH3GLB1 Synonymous SNV L35L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 154111 chr4 175898914 175898914 G A rs111568855 ADAM29 Synonymous SNV T746T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 9.263 154112 chr12 57578172 57578172 G A rs560853445 LRP1 Synonymous SNV T2041T 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 8.946 154113 chr1 147091510 147091510 C T rs782286134 BCL9 Nonsynonymous SNV P517S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 154114 chr2 219528898 219528898 C G rs146626696 RNF25 Nonsynonymous SNV E388Q 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 154115 chr1 1471078 1471078 G A rs763953379 TMEM240 Synonymous SNV I88I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.105 154116 chr2 24236161 24236161 A T MFSD2B Stop gain R35X 0.002 0 0 0 2 0 0 0 0 0 0 0 34 154117 chr2 242755751 242755751 G A rs771531663 NEU4 Nonsynonymous SNV V37M 0.003 0 0 0 4 0 0 0 0 0 0 0 25 154118 chr4 184182125 184182125 G A rs141501417 WWC2 Nonsynonymous SNV R450Q 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 26 154119 chr1 151811120 151811120 C T rs537061891 C2CD4D Nonsynonymous SNV G116R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.398 154120 chr1 151823625 151823625 T A THEM5 Nonsynonymous SNV E123V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 154121 chr21 43800232 43800232 C T rs111033261 TMPRSS3 Nonsynonymous SNV D221N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 154122 chr2 25973093 25973093 T G ASXL2 Nonsynonymous SNV K184N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.77 154123 chr1 92262863 92262863 G A rs752866715 TGFBR3 Nonsynonymous SNV P76L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.433 154124 chr2 26818069 26818069 C A rs112421794 CIB4 Nonsynonymous SNV K101N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 154125 chr2 157425351 157425351 G A rs142982081 GPD2 Nonsynonymous SNV V394I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.7 154126 chr2 157425931 157425931 A C rs35096779 GPD2 Nonsynonymous SNV K453Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.21 154127 chr2 189863044 189863044 C T rs756822808 COL3A1 Nonsynonymous SNV P659L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.9 154128 chr1 95538342 95538342 C A rs139521179 ALG14 Nonsynonymous SNV S38I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 154129 chr21 45833822 45833822 A G rs773174933 TRPM2 Nonsynonymous SNV Y1004C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 154130 chr1 155005943 155005943 T C rs774224073 DCST2 Nonsynonymous SNV T79A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19.59 154131 chr4 25260667 25260667 C T rs61748741 PI4K2B Synonymous SNV S255S 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 14 154132 chr12 94975578 94975578 G T TMCC3 Stop gain S241X 0 0.003 0 2 0 1 0.005 0 0 0 0 0 38 154133 chr2 200710868 200710868 C T FTCDNL1 Synonymous SNV V47V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.88 154134 chr20 13714384 13714384 A C rs41275402 ESF1 Nonsynonymous SNV L645R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 154135 chr11 58722272 58722272 A T rs149157827 GLYATL1 Synonymous SNV T72T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 154136 chr11 58722275 58722275 C T rs142174775 GLYATL1 Synonymous SNV N73N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.144 154137 chr21 47831802 47831802 C T rs575313866 PCNT Nonsynonymous SNV R1821W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign/Likely benign 23.5 154138 chr21 47832878 47832878 T C rs915922018 PCNT Nonsynonymous SNV M1923T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.89 154139 chr2 37459328 37459328 G A rs145863454 NDUFAF7 Synonymous SNV R45R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 11.28 154140 chr1 156823716 156823716 C G INSRR Nonsynonymous SNV W155C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 154141 chr1 156897000 156897000 G A LRRC71 Synonymous SNV V200V 0 0 0.003 0 0 0 0 1 0 0 0 0 12 154142 chr13 99532882 99532882 T G rs376323799 DOCK9 Synonymous SNV T931T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.45 154143 chr2 39893369 39893369 C A rs773111806 TMEM178A Synonymous SNV A85A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.1 154144 chr1 158533171 158533171 T C rs41273501 OR6P1 Nonsynonymous SNV N75S 0 0 0.01 0 0 0 0 3 0 0 0 0 0.001 154145 chr2 203976778 203976778 A G rs1050120790 NBEAL1 Nonsynonymous SNV Q691R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.5 154146 chr1 158549151 158549151 A C rs41273505 OR10X1 Nonsynonymous SNV F180C 0 0 0.01 0 0 0 0 3 0 0 0 0 24.1 154147 chr20 18446004 18446004 - TC rs768791868 DZANK1 Frameshift insertion K9Rfs*3 0.003 0 0 0 3 0 0 0 0 0 0 0 154148 chr1 158549339 158549339 C T rs41273509 OR10X1 Nonsynonymous SNV M117I 0 0 0.01 0 0 0 0 3 0 0 0 0 24 154149 chr4 42466913 42466913 A G ATP8A1 Synonymous SNV A820A 0.006 0 0 1 7 0 0.003 0 1 0 0 0 5.332 154150 chr2 17698307 17698307 G A rs752732691 RAD51AP2 Nonsynonymous SNV S459L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.125 154151 chr12 109217064 109217064 G A rs140493235 SSH1 Nonsynonymous SNV R73W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 154152 chr12 110930917 110930917 T C rs771777844 VPS29 Synonymous SNV Q105Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.429 154153 chr12 111800988 111800988 G A rs566596246 PHETA1 Nonsynonymous SNV R82C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 154154 chr4 55141085 55141085 G A rs55830582 PDGFRA Synonymous SNV P577P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 0.925 154155 chr4 55976873 55976873 G A rs750983015 KDR Nonsynonymous SNV R347C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 154156 chr22 23596074 23596074 T C rs55938746 BCR Synonymous SNV I456I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.04 154157 chr2 61009885 61009885 G A rs764781794 PAPOLG Synonymous SNV P364P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 154158 chr11 63532658 63532658 G C rs766636368 C11orf95 Nonsynonymous SNV R236G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.39 154159 chr20 30411298 30411298 C T rs142620954 MYLK2 Nonsynonymous SNV P264L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 154160 chr20 30418897 30418897 C A rs751829959 MYLK2 Synonymous SNV I459I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.64 154161 chr2 242312656 242312656 A G rs150312458 FARP2 Nonsynonymous SNV H45R 0.006 0 0.003 4 7 0 0.01 1 0 0 0 0 Benign 0.016 154162 chr4 5894358 5894358 G A CRMP1 Synonymous SNV R113R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.48 154163 chr2 242757493 242757493 C T rs185223376 NEU4 Nonsynonymous SNV R205W 0.004 0 0.003 0 5 0 0 1 0 0 0 0 23.3 154164 chr11 64375286 64375286 G T rs369377520 NRXN2 Synonymous SNV P461P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.028 154165 chr2 179612800 179612800 A G rs142132973 TTN Nonsynonymous SNV L4776S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.33 154166 chr22 26854464 26854464 G A rs149689335 HPS4 Nonsynonymous SNV T593M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.675 154167 chr2 219878889 219878889 T C LOC100129175 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.344 154168 chr2 219888074 219888074 C A CFAP65 Nonsynonymous SNV W892L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.68 154169 chr20 33585205 33585205 G A rs201643368 MYH7B Nonsynonymous SNV G1212D 0.001 0.003 0.017 0 1 1 0 5 0 0 0 0 25.4 154170 chr11 65351967 65351967 T C rs371874855 EHBP1L1 Nonsynonymous SNV S330P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.3 154171 chr11 65373296 65373296 T C rs1005768321 MAP3K11 Synonymous SNV T589T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.304 154172 chr2 220354245 220354245 C A rs1008557705 SPEG Synonymous SNV L2835L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.25 154173 chr20 35443985 35443985 G A rs772077901 SOGA1 Synonymous SNV A620A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.46 154174 chr2 220408221 220408221 C T CHPF Nonsynonymous SNV G14R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 154175 chr2 220417397 220417397 G T OBSL1 Synonymous SNV S1723S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.05 154176 chr20 37268017 37268017 G A rs201838972 ARHGAP40 Nonsynonymous SNV A422T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 154177 chr20 3777289 3777289 T C rs368274446 CDC25B Synonymous SNV H37H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.183 154178 chr20 3838318 3838318 C T rs370970889 MAVS Nonsynonymous SNV R52W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 154179 chr22 31485994 31485994 G T rs11703526 SMTN Nonsynonymous SNV V317L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 1.031 154180 chr12 124267713 124267713 G A rs145614363 DNAH10 Nonsynonymous SNV A240T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 8.325 154181 chr2 84811198 84811198 C G rs772816080 DNAH6 Nonsynonymous SNV P769A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.6 154182 chr12 124393840 124393840 C T rs191384577 DNAH10 Nonsynonymous SNV T3165M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 23.5 154183 chr2 223085069 223085069 C T PAX3 Synonymous SNV V320V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.07 154184 chr20 40079594 40079594 G C rs140007009 CHD6 Nonsynonymous SNV H1225Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 154185 chr2 86270208 86270208 G A rs1021185385 POLR1A Synonymous SNV T1082T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.66 154186 chr4 76812853 76812853 A G rs145494194 PPEF2 Synonymous SNV H63H 0.003 0.018 0.003 1 4 7 0.003 1 0 0 0 0 0.956 154187 chr22 32620346 32620346 G A rs148396099 SLC5A4 Nonsynonymous SNV H525Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 154188 chr14 23993448 23993448 T C ZFHX2 Synonymous SNV V1901V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.379 154189 chr22 35478537 35478537 C T rs372031013 ISX Nonsynonymous SNV R86C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.4 154190 chr4 77662774 77662774 C A rs1006523959 SHROOM3 Nonsynonymous SNV R1150S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 28.2 154191 chr14 24906430 24906430 G A rs373108806 KHNYN Nonsynonymous SNV R700Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 154192 chr11 70049734 70049734 C T rs553988720 FADD Nonsynonymous SNV P57S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.872 154193 chr20 45354491 45354491 C G rs148058006 SLC2A10 Synonymous SNV A272A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.56 154194 chr20 45717993 45717993 G A rs754700478 EYA2 Synonymous SNV P259P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 154195 chr22 37414495 37414495 G A rs773046791 TST Synonymous SNV H93H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.392 154196 chr22 37622791 37622791 G A rs79799102 RAC2 Synonymous SNV T167T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.646 154197 chr22 38021035 38021035 G A GGA1 Nonsynonymous SNV V298M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 154198 chr11 72469633 72469633 C T rs761639628 STARD10 Nonsynonymous SNV R134H 0 0.008 0 1 0 3 0.003 0 0 0 0 0 34 154199 chr2 45576 45576 C A FAM110C Synonymous SNV G270G 0.004 0 0 0 5 0 0 0 0 0 0 0 20.8 154200 chr2 45620130 45620130 G A rs200850718 SRBD1 Synonymous SNV V884V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 154201 chr2 46597010 46597010 G A rs759634197 EPAS1 Nonsynonymous SNV R275H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 154202 chr13 21562963 21562963 T C LATS2 Nonsynonymous SNV K319R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.251 154203 chr11 74208381 74208381 G A rs141043241 LOC100287896 Nonsynonymous SNV R144H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.497 154204 chr2 47630353 47630353 C T rs17217716 MSH2 Nonsynonymous SNV T8M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 154205 chr11 74800714 74800714 G T rs368573856 OR2AT4 Synonymous SNV V15V 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 0.175 154206 chr2 50574007 50574007 T C rs562219421 NRXN1 Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.14 154207 chr22 39884279 39884279 C T rs139812692 MGAT3 Synonymous SNV P309P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.81 154208 chr4 8603005 8603005 T C rs753569071 CPZ Nonsynonymous SNV C82R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 26 154209 chr1 185175837 185175837 A C rs2295950 SWT1 Nonsynonymous SNV L638F 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 23.3 154210 chr13 24852939 24852939 G A SPATA13 Nonsynonymous SNV C34Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.913 154211 chr20 56285429 56285429 A G rs6025736 NKILA 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 6.967 154212 chr20 56285693 56285693 T A rs78041367 NKILA 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.042 154213 chr13 25341455 25341455 G A rs762078518 RNF17 Nonsynonymous SNV C59Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.2 154214 chr2 56094270 56094270 C G rs200959130 EFEMP1 Nonsynonymous SNV G474R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.5 154215 chr11 77531731 77531731 C T RSF1 Synonymous SNV V10V 0 0.008 0 1 0 3 0.003 0 0 0 0 0 10.77 154216 chr22 43575956 43575956 C T rs142003726 TTLL12 Synonymous SNV S199S 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 12.94 154217 chr11 78498013 78498013 G A rs376669865 TENM4 Synonymous SNV A765A 0 0.018 0 1 0 7 0.003 0 0 0 0 0 11.23 154218 chr4 90874562 90874562 G T rs147451161 MMRN1 Nonsynonymous SNV R1227L 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 27.8 154219 chr3 112993503 112993503 C T BOC Nonsynonymous SNV L506F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 154220 chr11 82956577 82956577 C T rs199663105 ANKRD42 Synonymous SNV L411L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 20.6 154221 chr11 82976978 82976978 A G rs144139155 CCDC90B Nonsynonymous SNV I98T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 28.6 154222 chr1 196309693 196309693 C T rs200217178 KCNT2 Nonsynonymous SNV V471I 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 154223 chr11 82997143 82997143 C G rs146599857 CCDC90B Nonsynonymous SNV E25Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 8.395 154224 chr11 85375480 85375480 - CGTCCC rs764157651 CREBZF D146_D147insGD 0 0 0 2 0 0 0.005 0 0 0 0 0 154225 chr3 119134278 119134278 G T rs765132653 ARHGAP31 Nonsynonymous SNV V1168F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 154226 chr3 119210404 119210404 T A POGLUT1 Synonymous SNV A335A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 154227 chr3 119348298 119348298 A G rs72957048 PLA1A Nonsynonymous SNV K279E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.007 154228 chr3 121100264 121100264 C T rs539207434 STXBP5L Synonymous SNV T824T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14 154229 chr13 46108856 46108856 T C rs74854040 COG3 Nonsynonymous SNV V826A 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 19.35 154230 chr13 46170881 46170881 C T rs115031064 ERICH6B Nonsynonymous SNV G87E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 1.429 154231 chr11 102477279 102477279 G A MMP20 Nonsynonymous SNV L314F 0.004 0 0 4 5 0 0.01 0 0 0 0 0 4.71 154232 chr2 74689836 74689836 G T MOGS Synonymous SNV A360A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.078 154233 chr2 74701923 74701923 C T rs373983045 CCDC142 Nonsynonymous SNV C668Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 154234 chr13 47303011 47303011 A G rs9595522 LRCH1 Synonymous SNV L598L 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 5.765 154235 chr2 25803648 25803648 A T rs376594866 DTNB Synonymous SNV P13P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.285 154236 chr2 220379175 220379175 C T rs115032706 ASIC4 Nonsynonymous SNV A37V 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23.9 154237 chr2 26204576 26204576 C T rs774619783 KIF3C Nonsynonymous SNV A71T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13 154238 chr2 220418334 220418334 C A rs140825693 OBSL1 Stop gain E1651X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 46 154239 chr3 123018996 123018996 G A rs142142140 ADCY5 Synonymous SNV N607N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.653 154240 chr14 73141063 73141063 C T rs374644462 DPF3 Synonymous SNV P252P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.96 154241 chr20 9624935 9624935 C T rs370805526 PAK5 Synonymous SNV P14P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 154242 chr11 107263594 107263594 C T rs145787698 CWF19L2 Nonsynonymous SNV V549I 0.004 0 0 6 5 0 0.015 0 0 0 0 0 21.8 154243 chr2 100266104 100266104 G A rs762261479 AFF3 Nonsynonymous SNV R415C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 154244 chr13 73347859 73347859 G A rs76698610 DIS3 Nonsynonymous SNV A278V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.3 154245 chr5 1225628 1225628 C A rs143864547 SLC6A18 Stop gain C12X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 154246 chr2 88484944 88484944 A G THNSL2 Nonsynonymous SNV H392R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 26.1 154247 chr2 101609961 101609961 G A rs113107029 NPAS2 Nonsynonymous SNV R755Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.32 154248 chr5 126758373 126758373 C T rs114704569 MEGF10 Synonymous SNV Y534Y 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.34 154249 chr5 1280374 1280374 G A rs140951453 TERT Synonymous SNV L617L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 1.636 154250 chr2 103378697 103378697 C A rs141575902 TMEM182 Synonymous SNV I7I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.53 154251 chr21 33711167 33711167 G A rs374850618 URB1 Synonymous SNV T1453T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.42 154252 chr1 210010413 210010413 C T rs762385293 UTP25 Nonsynonymous SNV R307C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 154253 chr2 99013638 99013638 G C rs148496805 CNGA3 Nonsynonymous SNV V651L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 0.765 154254 chr2 99449445 99449445 C T rs373720213 KIAA1211L Synonymous SNV T85T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.57 154255 chr5 134347241 134347241 T C rs7719874 CATSPER3 Synonymous SNV H375H 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.006 154256 chr11 118919754 118919754 T G rs926373716 HYOU1 Nonsynonymous SNV E656D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.02 154257 chr3 105377872 105377872 C T rs746886895 CBLB Nonsynonymous SNV R611Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 154258 chr1 2160388 2160388 G C SKI Synonymous SNV P61P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.436 154259 chr1 217856688 217856688 C A rs747672691 SPATA17 Nonsynonymous SNV T127N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 154260 chr5 139938238 139938238 G C rs374702672 APBB3 Nonsynonymous SNV R472G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 154261 chr2 120438567 120438567 C T rs372400896 TMEM177 Synonymous SNV Y46Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.871 154262 chr21 43373728 43373728 G A rs561571627 C2CD2 Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.312 154263 chr3 112666750 112666750 G T CD200R1 Nonsynonymous SNV P30Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.338 154264 chr2 128408538 128408538 G A rs147393131 GPR17 Nonsynonymous SNV D77N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 154265 chr2 133541349 133541349 G A NCKAP5 Nonsynonymous SNV P1012L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 154266 chr2 241078761 241078761 C T rs374520622 OTOS Synonymous SNV A32A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 154267 chr5 140626172 140626172 T C PCDHB15 Synonymous SNV D342D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 1.017 154268 chr3 139086997 139086997 T C COPB2 Nonsynonymous SNV D512G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 154269 chr11 124740144 124740144 G A rs142090631 ROBO3 Nonsynonymous SNV D284N 0.008 0.005 0.007 3 9 2 0.008 2 0 0 0 0 Benign/Likely benign 29.1 154270 chr2 55899139 55899139 C T PNPT1 Synonymous SNV E303E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.795 154271 chr2 136872715 136872715 G A rs148279552 CXCR4 Synonymous SNV I265I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.557 154272 chr21 45941816 45941816 G A rs782415357 TSPEAR Nonsynonymous SNV H506Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 154273 chr14 103969432 103969432 C T rs779219094 MARK3 Synonymous SNV L670L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.77 154274 chr21 47633708 47633708 G A rs766693962 LSS Synonymous SNV D271D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.884 154275 chr5 147019225 147019225 T C rs146762170 JAKMIP2 Synonymous SNV G458G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.536 154276 chr21 47663516 47663516 C G rs201049186 MCM3AP Nonsynonymous SNV R1720T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.43 154277 chr2 71043367 71043367 A G CLEC4F Synonymous SNV H382H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.007 154278 chr14 104643204 104643204 C T rs113754530 KIF26A Nonsynonymous SNV A1360V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 154279 chr11 130319046 130319046 T C rs758180309 ADAMTS15 Nonsynonymous SNV F60L 0 0 0 4 0 0 0.01 0 0 0 0 0 26.4 154280 chr1 230827221 230827221 G A rs149248784 COG2 Nonsynonymous SNV A675T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 0.004 154281 chr22 17472967 17472967 G T rs183440296 GAB4 Nonsynonymous SNV R92S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 154282 chr14 105404976 105404976 T C rs188591246 AHNAK2 Synonymous SNV S5504S 0.003 0.003 0 7 3 1 0.018 0 0 0 0 0 6 154283 chr5 149428205 149428205 G A rs773229887 HMGXB3 Nonsynonymous SNV R887H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 154284 chr2 73479961 73479961 G A rs769701233 CCT7 Nonsynonymous SNV R331Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 154285 chr1 232534919 232534919 C T rs34461614 SIPA1L2 Nonsynonymous SNV R1708Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 154286 chr1 233121879 233121879 C T rs188482918 PCNX2 Nonsynonymous SNV V2067M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 154287 chr12 662605 662605 A G rs111368596 B4GALNT3 Nonsynonymous SNV I506V 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 0.001 154288 chr12 662676 662676 C T rs78016283 B4GALNT3 Synonymous SNV S529S 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 11.97 154289 chr2 160204038 160204038 C T rs116085584 BAZ2B Nonsynonymous SNV D1769N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 154290 chr5 150501732 150501732 G A rs757887863 ANXA6 Synonymous SNV A409A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.74 154291 chr2 160252332 160252332 C T rs180681997 BAZ2B Nonsynonymous SNV R972K 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 154292 chr14 105617121 105617121 G A rs374092502 MIR6765 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.962 154293 chr14 105860980 105860980 A G rs138788243 PACS2 Nonsynonymous SNV I806V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.73 154294 chr2 163059592 163059592 T C rs200942734 FAP Nonsynonymous SNV K346E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.682 154295 chr22 19754164 19754164 C T TBX1 Nonsynonymous SNV A421V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 154296 chr2 165802236 165802236 - TC rs559349803 SLC38A11 Frameshift insertion D21Efs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 154297 chr1 236738203 236738203 T C HEATR1 Nonsynonymous SNV M1029V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.332 154298 chr22 20073862 20073862 G A rs758424877 DGCR8 Nonsynonymous SNV E126K 0.001 0 0 0 1 0 0 0 0 0 0 0 29 154299 chr3 183273183 183273183 G A rs753955345 KLHL6 Nonsynonymous SNV R87C 0.003 0 0 6 3 0 0.015 0 0 0 0 0 34 154300 chr2 167266302 167266302 C A rs199934497 SCN7A Nonsynonymous SNV W1285C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 26 154301 chr2 170009390 170009390 C T rs142934522 LRP2 Nonsynonymous SNV R4127H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 11.96 154302 chr3 183951462 183951462 G C VWA5B2 Nonsynonymous SNV C210S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.991 154303 chr3 183994364 183994364 G A rs530767382 ECE2 Synonymous SNV K45K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.03 154304 chr15 35834667 35834667 G C rs141206143 DPH6 Nonsynonymous SNV A22G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.5 154305 chr2 170402807 170402807 G C FASTKD1 Nonsynonymous SNV S518C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 154306 chr22 23523362 23523362 G C rs369488601 BCR Nonsynonymous SNV R72P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 154307 chr2 97490844 97490844 C T rs762629691 CNNM3 Synonymous SNV G425G 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 19.26 154308 chr2 97523695 97523695 C T rs758212205 ANKRD39 Synonymous SNV G10G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 154309 chr2 43802153 43802153 T C rs111983293 THADA Nonsynonymous SNV T351A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.91 154310 chr5 171809065 171809065 G T SH3PXD2B Nonsynonymous SNV P126T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 154311 chr2 175087818 175087818 G A rs772714993 OLA1 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 154312 chr3 1337298 1337298 A G rs141750859 CNTN6 Synonymous SNV A84A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.857 154313 chr14 45716366 45716366 C T rs149551504 MIS18BP1 Nonsynonymous SNV V42I 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 9.214 154314 chr3 105470435 105470435 T C rs138009374 CBLB Synonymous SNV R149R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.616 154315 chr3 107941135 107941135 C G rs114893980 IFT57 Nonsynonymous SNV G12A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 154316 chr2 179323329 179323329 C G rs542871573 PJVK Synonymous SNV L214L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 154317 chr1 248004876 248004876 C T rs140921021 OR11L1 Nonsynonymous SNV G108D 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 23.4 154318 chr22 29876374 29876374 T C rs7288867 NEFH Synonymous SNV A41A 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 0.593 154319 chr2 179430323 179430323 C T rs767520023 TTN Nonsynonymous SNV G17781R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 154320 chr22 29876548 29876548 G A rs7287198 NEFH Synonymous SNV E99E 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 5.301 154321 chr22 29876806 29876806 A C rs7289196 NEFH Synonymous SNV L185L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.054 154322 chr22 29877010 29877010 G T rs76208639 NEFH Synonymous SNV A253A 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Benign 9.401 154323 chr5 178977714 178977714 C G rs573764507 RUFY1 Synonymous SNV G48G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.1 154324 chr5 178977721 178977721 C G rs541260898 RUFY1 Nonsynonymous SNV R51G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 154325 chr3 141162818 141162818 A G ZBTB38 Nonsynonymous SNV I530V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 154326 chr15 42981220 42981220 G T rs776581998 STARD9 Nonsynonymous SNV V2482F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.45 154327 chr12 11338888 11338888 A C rs375998644 TAS2R42 Nonsynonymous SNV L219W 0 0 0 2 0 0 0.005 0 0 0 0 0 21.8 154328 chr14 58599944 58599944 C A rs147981947 ARMH4 Nonsynonymous SNV E495D 0.004 0.003 0.007 4 5 1 0.01 2 0 0 0 0 18.74 154329 chr5 32090378 32090378 A G rs150841463 PDZD2 Nonsynonymous SNV Q2275R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.1 154330 chr3 20043209 20043209 A G PP2D1 Nonsynonymous SNV F135L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.82 154331 chr14 63856360 63856360 G A rs533135316 PPP2R5E Synonymous SNV I272I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 14.41 154332 chr15 48063307 48063307 T C rs141989690 SEMA6D Synonymous SNV A787A 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.008 154333 chr12 21028280 21028280 C T SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV P252L 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 154334 chr2 186656853 186656853 G A rs569770014 FSIP2 Nonsynonymous SNV D1664N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 154335 chr15 50867294 50867294 G A TRPM7 Nonsynonymous SNV P1591S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 154336 chr22 37398275 37398275 G A rs112751571 TEX33 Nonsynonymous SNV A31V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.643 154337 chr1 28599236 28599236 C T rs61741544 SESN2 Nonsynonymous SNV P228S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 14.39 154338 chr2 73487557 73487557 C T rs767756559 FBXO41 Synonymous SNV T803T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 154339 chr3 164750389 164750392 CTGT - SI D885Vfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 154340 chr5 38506053 38506053 C T rs139809889 LIFR Synonymous SNV P415P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 15.5 154341 chr2 186668126 186668126 T C rs182963899 FSIP2 Nonsynonymous SNV V4698A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 154342 chr1 31973510 31973510 A C LDC1P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.416 154343 chr14 68268880 68268880 A G ZFYVE26 Nonsynonymous SNV S519P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.9 154344 chr3 17053613 17053613 C T rs61751588 PLCL2 Synonymous SNV P799P 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 15.52 154345 chr15 56923933 56923933 A G ZNF280D Synonymous SNV H888H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.105 154346 chr1 33237014 33237014 A G rs774365871 KIAA1522 Nonsynonymous SNV K686R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 154347 chr2 191235983 191235983 T C rs763474037 INPP1 Nonsynonymous SNV V352A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.59 154348 chr15 59430501 59430501 G T rs147579391 MYO1E Nonsynonymous SNV P1049H 0.002 0.003 0.01 4 2 1 0.01 3 0 0 0 0 Likely benign 31 154349 chr15 59519746 59519746 T C rs141565214 MYO1E Nonsynonymous SNV D185G 0.002 0.005 0.014 4 2 2 0.01 4 0 0 0 0 Likely benign 25 154350 chr1 35442856 35442856 G T rs200039239 LOC653160 0 0 0.003 0 0 0 0 1 0 0 0 0 1.272 154351 chr3 39433412 39433412 G C rs149992222 SLC25A38 Synonymous SNV R175R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.41 154352 chr1 37324817 37324817 G A rs373031672 GRIK3 Synonymous SNV I332I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 154353 chr14 75475765 75475765 C T rs767183422 EIF2B2 Synonymous SNV C310C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.24 154354 chr15 65114700 65114700 C G rs139868280 PIF1 Nonsynonymous SNV S223T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 27.6 154355 chr1 39879340 39879340 G C rs141110458 KIAA0754 Nonsynonymous SNV A1135P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.19 154356 chr1 39879397 39879435 GAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC - rs776799112 KIAA0754 A1159_S1171del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 154357 chr3 185997721 185997721 G A rs61752079 DGKG Synonymous SNV D237D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.499 154358 chr3 42734701 42734701 A G rs992460162 HHATL Nonsynonymous SNV S420P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.41 154359 chr14 80130238 80130238 G A rs746751046 NRXN3 Nonsynonymous SNV G183S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 154360 chr2 98866806 98866806 A G VWA3B Nonsynonymous SNV N557S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 154361 chr1 43353920 43353920 C T rs11583171 LOC339539 0 0 0.017 0 0 0 0 5 0 0 2 0 5.6 154362 chr12 49434175 49434175 G A rs570260017 KMT2D Nonsynonymous SNV R2460C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.7 154363 chr3 45127464 45127464 C T rs754165008 CDCP1 Nonsynonymous SNV R726Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 154364 chr22 46658891 46658891 A G rs541646668 PKDREJ Nonsynonymous SNV L110P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.637 154365 chr2 208994333 208994333 C T rs142890808 CRYGC Synonymous SNV P28P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.89 154366 chr3 45559552 45559552 C T rs761554531 LARS2 Synonymous SNV S734S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.01 154367 chr1 45307551 45307551 A G rs749275900 PTCH2 Nonsynonymous SNV I78T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 154368 chr1 45808519 45808519 C T rs368182654 TOE1 Nonsynonymous SNV R253W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 34 154369 chr3 136647028 136647028 C A rs148772850 NCK1 Nonsynonymous SNV A62D 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25 154370 chr1 46089034 46089034 C T rs774017881 CCDC17 Stop gain W116X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 154371 chr2 210858102 210858102 C T rs374932020 UNC80 Nonsynonymous SNV R3064W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 154372 chr1 46488610 46488610 T C rs202053891 MAST2 Synonymous SNV S484S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.615 154373 chr1 46775682 46775682 C T rs575817000 UQCRH Nonsynonymous SNV A10V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 154374 chr5 76785321 76785321 T C rs140470489 WDR41 Nonsynonymous SNV H43R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 6.414 154375 chr3 140167395 140167395 C T rs143908906 CLSTN2 Synonymous SNV S274S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.88 154376 chr5 78417052 78417052 C T rs746836830 BHMT Synonymous SNV H163H 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 16.99 154377 chr3 195936337 195936337 G T rs201286461 ZDHHC19 Nonsynonymous SNV H106Q 0.003 0 0 0 3 0 0 0 0 0 0 0 11.05 154378 chr3 47103768 47103768 A G SETD2 Nonsynonymous SNV S2016P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 154379 chr5 7862987 7862987 C T rs145277052 FASTKD3 Nonsynonymous SNV A550T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25 154380 chr22 50659143 50659143 G A rs982609717 TUBGCP6 Synonymous SNV H1215H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.913 154381 chr5 80547071 80547071 G A CKMT2 Synonymous SNV E40E 0.002 0.008 0 0 2 3 0 0 0 0 0 0 1.3 154382 chr2 217559436 217559436 C G rs202117764 IGFBP5 Synonymous SNV L21L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 17.29 154383 chr3 25770655 25770655 A G NGLY1 Nonsynonymous SNV I509T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 154384 chr2 219146663 219146663 C T rs143066899 TMBIM1 Nonsynonymous SNV G68S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 21.4 154385 chr3 27475588 27475588 T C SLC4A7 Synonymous SNV V195V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.454 154386 chr2 219209614 219209614 G A rs139193832 PNKD Synonymous SNV P332P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.83 154387 chr12 53086339 53086339 - CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGTAGTGAACTG KRT77 Stop gain E432_E578delinsSSLQTPPPGSK 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 154388 chr3 50131308 50131308 T C RBM5 Synonymous SNV D113D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 154389 chr3 50363839 50363839 G A rs782198404 TUSC2 Synonymous SNV N72N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.846 154390 chr2 100019256 100019256 A T rs41280589 REV1 Nonsynonymous SNV L1130H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 14.01 154391 chr3 51992175 51992175 A C rs139783411 PCBP4 Nonsynonymous SNV S329A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.001 154392 chr3 52020668 52020668 - G rs770702363 ABHD14A-ACY1, ACY1 Frameshift insertion S120Rfs*64 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 154393 chr14 102793090 102793090 G A rs202123139 ZNF839 Nonsynonymous SNV G237R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 154394 chr2 219532687 219532687 C A rs950876767 RNF25 Nonsynonymous SNV G102V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 154395 chr3 33059962 33059962 C T rs564428355 GLB1 Nonsynonymous SNV R311Q 0.006 0.01 0 0 7 4 0 0 0 0 0 0 Pathogenic/Likely pathogenic 33 154396 chr2 219604866 219604866 C T rs749385951 TTLL4 Nonsynonymous SNV R525C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 154397 chr3 38139324 38139324 C T rs193282675 DLEC1 Synonymous SNV N885N 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Benign 14.22 154398 chr1 62393420 62393420 C T rs61743112 PATJ Nonsynonymous SNV P1197S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 154399 chr3 56597961 56597961 A G rs372674406 CCDC66 Nonsynonymous SNV M85V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.001 154400 chr1 6639184 6639184 C T rs114555118 TAS1R1 Nonsynonymous SNV A435V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 154401 chr2 220416332 220416332 G A rs756587498 OBSL1 Nonsynonymous SNV H1868Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 154402 chr3 71739267 71739267 G A EIF4E3 Synonymous SNV V174V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.97 154403 chr1 76198420 76198420 T G rs778891510 ACADM Synonymous SNV T34T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.14 154404 chr2 227778999 227778999 C T rs34134244 RHBDD1 Nonsynonymous SNV T263M 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.77 154405 chr12 58020582 58020582 G A rs17454674 B4GALNT1 Nonsynonymous SNV A461V 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 Benign 19.29 154406 chr15 91485688 91485688 C T rs201070959 UNC45A Synonymous SNV L92L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.38 154407 chr15 91795713 91795713 C T rs74978515 SV2B Synonymous SNV Y98Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 154408 chr3 46497463 46497463 G A rs779558836 LTF Stop gain R64X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 154409 chr1 8420348 8420348 C T rs758262757 RERE Synonymous SNV A519A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.991 154410 chr2 121744178 121744178 C G GLI2 Nonsynonymous SNV L619V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 154411 chr12 67706476 67706476 C T rs140637003 CAND1 Nonsynonymous SNV P1187S 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 24.1 154412 chr2 231948449 231948449 C T rs755107756 PSMD1 Nonsynonymous SNV A565V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 154413 chr3 47604162 47604162 C T rs371021236 CSPG5 Synonymous SNV S378S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.89 154414 chr4 102117241 102117241 C A rs200056844 PPP3CA Nonsynonymous SNV A31S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.77 154415 chr2 128467314 128467314 G A rs139877926 WDR33 Nonsynonymous SNV A1142V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 154416 chr2 128735583 128735583 G A rs763014737 SAP130 Nonsynonymous SNV T706M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 154417 chr4 103265739 103265739 T G rs1870953 SLC39A8 Synonymous SNV L27L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign 9.803 154418 chr3 130744026 130744026 C T rs201731253 ASTE1 Nonsynonymous SNV S42N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.001 154419 chr1 9017230 9017230 A G rs367935323 CA6 Synonymous SNV T38T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 154420 chr6 133046001 133046001 G A VNN3 Nonsynonymous SNV P24L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.81 154421 chr16 334940 334940 C T rs200037163 PDIA2 Synonymous SNV T201T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.867 154422 chr16 425351 425351 T C rs140340682 PGAP6 Nonsynonymous SNV T437A 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 9.988 154423 chr3 134322877 134322877 G A rs35316983 KY Synonymous SNV R494R 0.003 0.013 0.003 0 3 5 0 1 0 0 0 0 3.963 154424 chr2 237396808 237396808 G A rs750449152 IQCA1 Synonymous SNV F161F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.474 154425 chr6 139694939 139694939 A T CITED2 Nonsynonymous SNV F48Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 154426 chr4 119754756 119754756 C T rs763756340 SEC24D Synonymous SNV P32P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 11.23 154427 chr3 52525989 52525989 A G NISCH Nonsynonymous SNV M1336V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.417 154428 chr3 52559106 52559106 C T rs770102270 NT5DC2 Nonsynonymous SNV R407Q 0.008 0.013 0 0 9 5 0 0 0 1 0 0 32 154429 chr3 52864631 52864631 A C rs141357046 ITIH4 Nonsynonymous SNV C10G 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.001 154430 chr2 239039810 239039810 C A rs755679492 ESPNL Nonsynonymous SNV P451T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 154431 chr2 15432775 15432775 C T rs146449593 NBAS Nonsynonymous SNV R1638H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 25.7 154432 chr2 15432834 15432834 G A rs371291813 NBAS Synonymous SNV H1618H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.072 154433 chr3 52977373 52977373 T C rs141561451 SFMBT1 Synonymous SNV P120P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 8.311 154434 chr3 55508461 55508461 G A rs200868061 WNT5A Synonymous SNV F181F 0.008 0.013 0 3 9 5 0.008 0 0 1 0 0 Benign 15.65 154435 chr3 57545136 57545136 C G rs776545193 PDE12 Nonsynonymous SNV Q470E 0.008 0.016 0 1 9 6 0.003 0 0 0 0 0 11.06 154436 chr3 57632086 57632086 G C rs140503507 DENND6A Nonsynonymous SNV P300A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 154437 chr3 196386711 196386711 C T rs201623634 NRROS Nonsynonymous SNV A66V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.98 154438 chr2 160692081 160692081 C T LY75, LY75-CD302 Nonsynonymous SNV E1195K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 154439 chr3 58849301 58849301 C T rs530086324 C3orf67 Nonsynonymous SNV G471S 0.009 0.016 0 1 10 6 0.003 0 0 0 0 0 0.004 154440 chr3 63819872 63819872 T G rs140872243 THOC7 Nonsynonymous SNV D132A 0.004 0.008 0 0 5 3 0 0 0 0 0 0 33 154441 chr12 106460692 106460692 A C NUAK1 Nonsynonymous SNV L625R 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 154442 chr3 66432717 66432717 T C rs148946048 LRIG1 Nonsynonymous SNV N866S 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Benign 10.88 154443 chr2 167129139 167129139 G C rs200163274 SCN9A Nonsynonymous SNV H1041D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.878 154444 chr20 18446004 18446004 - TCTC rs754173983 DZANK1 Frameshift insertion K9Rfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 154445 chr2 169721366 169721366 G T rs372892123 NOSTRIN Nonsynonymous SNV E441D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 154446 chr2 25991713 25991713 T G rs190136878 ASXL2 Nonsynonymous SNV K119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.2 154447 chr12 109055889 109055889 G T CORO1C Nonsynonymous SNV P175T 0 0 0 2 0 0 0.005 0 0 0 0 0 28.6 154448 chr4 151729541 151729541 G A LRBA Nonsynonymous SNV S1772L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 154449 chr3 170102490 170102490 G A SKIL Nonsynonymous SNV V456I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.4 154450 chr2 171687540 171687540 C A rs779472420 GAD1 Nonsynonymous SNV R129S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 154451 chr20 20505137 20505137 G A rs201822513 RALGAPA2 Synonymous SNV P1271P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.838 154452 chr3 172502556 172502556 A G rs201456614 ECT2 Synonymous SNV P536P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.728 154453 chr2 173355966 173355966 G C rs771492518 ITGA6 Synonymous SNV V932V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.428 154454 chr15 63009823 63009823 T G rs141002416 TLN2 Nonsynonymous SNV S938A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.342 154455 chr2 176948445 176948445 C G rs61731351 EVX2 Synonymous SNV T20T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.616 154456 chr4 155665820 155665820 G A rs17031981 LRAT Synonymous SNV E114E 0.004 0.003 0.003 4 5 1 0.01 1 0 0 0 0 Benign/Likely benign 9.332 154457 chr2 177033995 177033995 A C rs141168805 HOXD3 Synonymous SNV P51P 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 6.115 154458 chr16 5061153 5061153 C T rs199905767 SEC14L5 Nonsynonymous SNV P620S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 11.98 154459 chr16 7680609 7680609 G T rs200449428 RBFOX1 Synonymous SNV T247T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.18 154460 chr20 30917997 30917997 - T KIF3B Frameshift insertion Y675Lfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 154461 chr3 42448455 42448455 G A rs76947105 LYZL4 Nonsynonymous SNV P59S 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 22.8 154462 chr15 68582993 68582993 G A FEM1B Nonsynonymous SNV V433I 0.006 0.01 0 0 7 4 0 0 0 0 0 0 0.611 154463 chr4 10099354 10099354 T G WDR1 Nonsynonymous SNV K180T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 154464 chr2 38796442 38796442 T G HNRNPLL Nonsynonymous SNV I417L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.69 154465 chr20 33623111 33623111 G A rs187038762 TRPC4AP Nonsynonymous SNV A289V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 154466 chr20 33722734 33722734 C T EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV G133D 0 0 0.003 0 0 0 0 1 0 0 0 0 34 154467 chr16 19528487 19528487 C T rs752547994 GDE1 Nonsynonymous SNV V96M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 154468 chr16 19746737 19746737 C G IQCK Nonsynonymous SNV L59V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.6 154469 chr20 34167233 34167233 T C rs45604544 FER1L4 0 0 0.007 0 0 0 0 2 0 0 0 0 11.61 154470 chr2 183850949 183850949 A G rs767930924 NCKAP1 Synonymous SNV N318N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.8 154471 chr15 74631963 74631963 G T CYP11A1 Synonymous SNV V374V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 5.937 154472 chr4 110384328 110384328 A G SEC24B Synonymous SNV Q135Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.039 154473 chr6 26197109 26197109 C T rs367717762 H3C4 Nonsynonymous SNV D124N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 154474 chr15 77471225 77471225 A G rs781502929 PEAK1 Nonsynonymous SNV M1015T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.001 154475 chr15 78390910 78390910 G A rs775719065 SH2D7 Nonsynonymous SNV R206Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.935 154476 chr3 48789027 48789027 G A rs143784793 PRKAR2A Synonymous SNV L380L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.671 154477 chr4 186545302 186545302 C A rs201423233 SORBS2 Synonymous SNV G327G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.384 154478 chr6 2769092 2769092 T G WRNIP1 Nonsynonymous SNV I330M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 154479 chr2 189927971 189927971 G A rs758807897 COL5A2 Nonsynonymous SNV P599L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 154480 chr4 187455100 187455100 C T rs148793802 MTNR1A Nonsynonymous SNV A266T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.701 154481 chr4 123184617 123184617 A G rs749675240 KIAA1109 Nonsynonymous SNV M2335V 0.004 0 0 0 5 0 0 0 0 0 0 0 9.933 154482 chr2 192279339 192279339 A G rs149460981 MYO1B Nonsynonymous SNV T977A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 154483 chr12 132516525 132516525 A C EP400 Synonymous SNV R1928R 0 0 0 2 0 0 0.005 0 0 0 0 0 2.36 154484 chr4 2460896 2460896 G A CFAP99 Nonsynonymous SNV E456K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 154485 chr20 44586300 44586300 C T ZNF335 Synonymous SNV A789A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 154486 chr3 52430916 52430916 C T rs574358913 DNAH1 Synonymous SNV Y3881Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.38 154487 chr20 47261011 47261011 C T rs751549554 PREX1 Synonymous SNV S1179S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 154488 chr4 3076651 3076657 GCAGCAG - rs779692208 HTT Q33Hfs*66 0.003 0.003 0 0 3 1 0 0 0 0 0 0 154489 chr3 52561680 52561680 C T rs35034908 NT5DC2 Synonymous SNV V330V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.91 154490 chr6 36823796 36823796 G A rs111898081 PPIL1 Synonymous SNV L98L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.09 154491 chr15 85669545 85669545 C T PDE8A Synonymous SNV C685C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.11 154492 chr3 52728106 52728106 G A rs35437935 GNL3 Synonymous SNV E518E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.61 154493 chr2 73491075 73491075 C T rs202061032 FBXO41 Nonsynonymous SNV R638Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 154494 chr3 52863278 52863278 G A rs200460064 ITIH4 Synonymous SNV Y36Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.881 154495 chr16 50188027 50188027 C T rs76347010 TENT4B Synonymous SNV N165N 0.009 0.016 0 2 11 6 0.005 0 0 0 0 0 2.347 154496 chr2 73717531 73717531 A G rs137932254 ALMS1 Synonymous SNV S2814S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.569 154497 chr20 52583538 52583538 G A rs113552289 BCAS1 Synonymous SNV N405N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.842 154498 chr3 53886957 53886957 C T IL17RB Synonymous SNV A138A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 154499 chr2 85617313 85617313 G A rs770248019 ELMOD3 Nonsynonymous SNV A290T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 154500 chr2 85981835 85981835 C T rs753945730 ATOH8 Nonsynonymous SNV P175S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.451 154501 chr2 86257433 86257433 C T rs373607912 POLR1A Synonymous SNV A1555A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 154502 chr13 31540420 31540420 T C TEX26 Synonymous SNV P46P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 154503 chr16 57789761 57789761 G A KATNB1 Synonymous SNV V525V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.9 154504 chr6 43415039 43415039 G C rs779288383 ABCC10 Nonsynonymous SNV G1172R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.4 154505 chr3 69230481 69230481 G A FRMD4B Nonsynonymous SNV A807V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.19 154506 chr13 32977099 32977099 C T rs149135496 N4BP2L1 Nonsynonymous SNV G238S 0 0 0 3 0 0 0.008 0 0 0 0 0 12.98 154507 chr16 58577316 58577316 - A CNOT1 Frameshift insertion L1544Sfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 154508 chr3 44763861 44763861 C T rs148734812 ZNF502 Nonsynonymous SNV P518S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 154509 chr20 60911823 60911823 G A rs140214749 LAMA5 Synonymous SNV A728A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.535 154510 chr15 91026730 91026730 G A rs117246983 IQGAP1 Nonsynonymous SNV M1231I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.9 154511 chr16 67690352 67690352 G A rs925055814 CARMIL2 Synonymous SNV G1280G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.512 154512 chr13 39264040 39264040 C T rs779617548 FREM2 Synonymous SNV H853H 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 10.17 154513 chr16 67876806 67876838 CAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAG - THAP11 Q122_Q132del 0 0 0 1 0 0 0.003 0 0 0 0 0 154514 chr2 98263869 98263869 C T rs1012294517 COX5B Synonymous SNV V80V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 154515 chr2 217498296 217498296 - GCTGCCGCC rs771452702 IGFBP2 P19_L20insPLP 0.004 0.003 0 1 5 1 0.003 0 2 0 0 0 154516 chr2 99172268 99172268 A G rs868591658 INPP4A Nonsynonymous SNV T607A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 154517 chr2 219146751 219146751 G A rs148148840 TMBIM1 Synonymous SNV A38A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 154518 chr20 61684543 61684543 T C rs4809473 LINC01056 0 0 0.007 0 0 0 0 2 0 0 1 0 1.583 154519 chr15 99250885 99250885 C T rs149417802 IGF1R Synonymous SNV L63L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 11.31 154520 chr15 99251264 99251264 C T rs144739747 IGF1R Nonsynonymous SNV P190S 0 0.01 0.003 1 0 4 0.003 1 0 0 0 0 Uncertain significance 13.71 154521 chr4 57796459 57796459 C G rs753029340 REST Nonsynonymous SNV P479A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.137 154522 chr2 219526516 219526516 G C BCS1L Nonsynonymous SNV K45N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 154523 chr6 4996507 4996507 C T rs115150310 RPP40 Nonsynonymous SNV R213Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 154524 chr4 5991534 5991534 C T rs961300403 C4orf50 Nonsynonymous SNV E568K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.608 154525 chr16 71779100 71779100 G A rs138355091 AP1G1 Nonsynonymous SNV P649L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 154526 chr13 46924321 46924321 T C rs146906391 RUBCNL Nonsynonymous SNV H284R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.21 154527 chr3 47454482 47454484 CCT - rs768367262 PTPN23 S1450del 0 0.005 0 0 0 2 0 0 0 0 0 0 154528 chr3 111304210 111304210 G A rs139540088 CD96 Synonymous SNV T264T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.856 154529 chr3 111632292 111632292 C G rs141343267 PHLDB2 Nonsynonymous SNV L488V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.02 154530 chr2 220420861 220420861 G T OBSL1 Nonsynonymous SNV S1497Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 154531 chr4 7008380 7008380 A G rs139407886 TBC1D14 Nonsynonymous SNV D178G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 154532 chr3 112648295 112648295 C T CD200R1 Nonsynonymous SNV A65T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.9 154533 chr16 569009 569009 T C rs199606652 RAB11FIP3 Synonymous SNV I259I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.82 154534 chr21 27484335 27484335 G A rs201970902 APP Synonymous SNV C62C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 154535 chr3 51429202 51429202 C G rs547775625 RBM15B Synonymous SNV A124A 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 11.32 154536 chr21 33370957 33370957 G A rs61734757 HUNK Synonymous SNV P535P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.541 154537 chr4 77661768 77661768 C T rs149703148 SHROOM3 Synonymous SNV T814T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.26 154538 chr4 78669528 78669528 C T rs185065688 CNOT6L Synonymous SNV E167E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.45 154539 chr3 52848009 52848009 T C rs769716983 ITIH4 Nonsynonymous SNV N872S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 154540 chr6 74161638 74161638 - TG rs749545076 CGAS Frameshift insertion Q89Hfs*85 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 154541 chr21 34951673 34951673 C G rs145014824 DONSON Nonsynonymous SNV D516H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 154542 chr16 87637902 87637902 - CTGCTGCTG JPH3 A157_V158insAAA 0 0 0 2 0 0 0.005 0 0 0 0 0 154543 chr3 57616443 57616443 G A rs183284952 DENND6A Nonsynonymous SNV R506W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 154544 chr3 58081933 58081933 C T rs776289974 FLNB Synonymous SNV T324T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.92 154545 chr6 80198925 80198925 T C rs567383824 LCA5 Synonymous SNV Q369Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.004 154546 chr3 121994847 121994847 C A rs769907714 CASR Nonsynonymous SNV F522L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.64 154547 chr13 103701696 103701696 T A rs202212847 SLC10A2 Nonsynonymous SNV T288S 0 0 0.003 3 0 0 0.008 1 0 0 0 0 15.86 154548 chr13 110822021 110822021 G A rs779198670 COL4A1 Synonymous SNV P1277P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 6.165 154549 chr4 85742359 85742359 G A rs202188955 WDFY3 Nonsynonymous SNV T490I 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 15.78 154550 chr13 111109288 111109288 - GTG COL4A2-AS2 Q261_G262insH 0 0 0 2 0 0 0.005 0 0 0 0 0 154551 chr13 111109289 111109289 - GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG COL4A2-AS2 Q261delinsHGISPTDAWGPTQT 0 0 0 2 0 0 0.005 0 0 0 0 0 154552 chr21 43413631 43413631 G T rs139205397 ZBTB21 Nonsynonymous SNV P192T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.052 154553 chr3 77684116 77684116 C T rs62250276 ROBO2 Nonsynonymous SNV R1286W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 154554 chr4 949559 949559 G A rs757395705 TMEM175 Synonymous SNV S159S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.654 154555 chr4 153244137 153244137 G T rs140856583 FBXW7 Synonymous SNV R556R 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 3.275 154556 chr3 98309937 98309937 T C CPOX Nonsynonymous SNV I207V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.587 154557 chr7 100421299 100421299 G A rs145080354 EPHB4 Synonymous SNV L126L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.268 154558 chr21 46276177 46276177 C T rs141726521 PTTG1IP Nonsynonymous SNV R127Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.69 154559 chr4 9998566 9998566 C T rs999571682 SLC2A9 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 154560 chr16 11016049 11016049 G A rs200742204 CIITA Nonsynonymous SNV V475M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Uncertain significance 0.045 154561 chr17 1375218 1375218 G A rs78672478 MYO1C Synonymous SNV Y668Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 10.02 154562 chr14 21460313 21460313 G A rs149042340 METTL17 Nonsynonymous SNV G132E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.002 154563 chr4 159627980 159627980 C T rs747312700 ETFDH Synonymous SNV P495P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.98 154564 chr2 242437692 242437692 G A rs147254982 STK25 Synonymous SNV H330H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.386 154565 chr5 10650042 10650042 C G rs150269074 ANKRD33B Synonymous SNV P434P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.968 154566 chr2 26152862 26152862 G T rs142549941 KIF3C Synonymous SNV R693R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.66 154567 chr22 19165823 19165823 C G rs558632091 SLC25A1 Nonsynonymous SNV G16R 0.009 0.005 0.003 1 11 2 0.003 1 1 0 0 0 Benign 11.29 154568 chr3 136002689 136002689 C T rs369612150 PCCB Nonsynonymous SNV T185M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.634 154569 chr4 108940818 108940818 T C rs774956302 HADH Nonsynonymous SNV V181A 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 154570 chr2 27324206 27324206 T C rs369703146 CGREF1 Nonsynonymous SNV E298G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.237 154571 chr4 175649799 175649799 G C rs143084670 GLRA3 Synonymous SNV L106L 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 8.013 154572 chr22 20101289 20101289 C T rs146579566 TRMT2A Nonsynonymous SNV D426N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 154573 chr22 20230536 20230536 C T rs111517604 RTN4R Synonymous SNV T40T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.23 154574 chr3 137822332 137822332 C A rs143704981 DZIP1L Nonsynonymous SNV G161V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 154575 chr5 121487765 121487765 T A rs62382992 ZNF474 Nonsynonymous SNV I27N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 154576 chr4 177058741 177058741 A G rs145423842 WDR17 Synonymous SNV K446K 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 5.207 154577 chr14 23901954 23901954 C T rs138932714 MYH7 Synonymous SNV P132P 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Likely benign 13.52 154578 chr14 24040428 24040428 T C rs61739610 JPH4 Synonymous SNV A504A 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 0.014 154579 chr16 23702246 23702246 G C rs56129167 ERN2 Nonsynonymous SNV A844G 0.006 0.008 0.007 5 7 3 0.013 2 0 0 0 0 23 154580 chr3 142682065 142682065 T C rs200696132 PAQR9 Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.873 154581 chr3 142682073 142682073 C T rs115958571 PAQR9 Nonsynonymous SNV D36N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 154582 chr17 4113150 4113150 T C rs202161883 ANKFY1 Nonsynonymous SNV N226S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.24 154583 chr16 27374374 27374374 C T rs149213624 IL4R Synonymous SNV P567P 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 11.87 154584 chr17 4714225 4714225 G A rs147737574 PLD2 Nonsynonymous SNV R330Q 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 Benign 23.7 154585 chr16 27375022 27375022 G A rs142940261 IL4R Synonymous SNV S783S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 12.46 154586 chr14 24845686 24845686 T C rs56367620 NFATC4 Nonsynonymous SNV L748P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.3 154587 chr2 33809994 33809994 C A rs142925728 FAM98A Nonsynonymous SNV G274V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23 154588 chr16 28898778 28898778 C G rs113803159 ATP2A1 Synonymous SNV G96G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.374 154589 chr16 28995211 28995211 C T rs113165798 SPNS1 Synonymous SNV G401G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 12.89 154590 chr7 100686700 100686700 C G MUC17 Synonymous SNV P4001P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.633 154591 chr16 28996225 28996225 T C rs41301797 LAT Synonymous SNV L15L 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 0.807 154592 chr22 28397312 28397312 C T rs750013159 TTC28-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.11 154593 chr22 28397341 28397341 C G rs754758201 TTC28-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.98 154594 chr4 2061356 2061356 C A NAT8L Nonsynonymous SNV P40T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.832 154595 chr7 105752618 105752618 C T rs201833481 SYPL1 Nonsynonymous SNV E13K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.9 154596 chr22 30682006 30682006 A G rs188064023 CASTOR1 Synonymous SNV F275F 0 0 0.007 0 0 0 0 2 0 0 0 0 9.371 154597 chr2 42281307 42281307 C T rs761404378 PKDCC Synonymous SNV D298D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.01 154598 chr7 107602115 107602115 C T rs765775010 LAMB1 Nonsynonymous SNV D622N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 154599 chr4 25146430 25146430 G A SEPSECS Nonsynonymous SNV S331L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 154600 chr7 110762894 110762894 T C rs1030594878 LRRN3 Synonymous SNV A22A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.101 154601 chr2 43520203 43520203 C T rs755480967 THADA Nonsynonymous SNV A1530T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 8.989 154602 chr4 8218862 8218862 G A rs201009287 SH3TC1 Synonymous SNV A193A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.542 154603 chr7 11419287 11419287 C T rs17164530 THSD7A Synonymous SNV P1520P 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Benign 18.4 154604 chr3 167510414 167510414 A G rs61735309 SERPINI1 Nonsynonymous SNV D173G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 6.153 154605 chr17 7367020 7367020 G A rs201324783 ZBTB4 Synonymous SNV Y427Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.031 154606 chr4 84518029 84518029 T A GPAT3 Synonymous SNV A291A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.48 154607 chr2 54278096 54278096 - A rs760732104 ACYP2 Stop gain Y22* 0.001 0 0 0 1 0 0 0 0 0 0 0 154608 chr7 123197691 123197691 G C rs118062590 NDUFA5 Stop gain Y3X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.433 154609 chr5 140720191 140720191 C G rs139317352 PCDHGA2 Nonsynonymous SNV F551L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.18 154610 chr2 61412911 61412911 T C AHSA2P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.294 154611 chr4 39448682 39448682 C A KLB Nonsynonymous SNV T779N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 154612 chr2 61542065 61542065 T C rs770529903 USP34 Synonymous SNV Q1109Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.497 154613 chr5 140789434 140789434 C A rs376725837 PCDHGB6 Synonymous SNV R555R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.57 154614 chr2 62100355 62100355 C G rs765680469 CCT4 Nonsynonymous SNV E301Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 31 154615 chr2 62103327 62103327 G T rs115496486 CCT4 Synonymous SNV R244R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.28 154616 chr2 64126623 64126623 T A rs139693930 VPS54 Synonymous SNV P894P 0.003 0 0 0 4 0 0 0 0 0 0 0 9.8 154617 chr22 37578324 37578324 C A rs142335452 C1QTNF6 Synonymous SNV R247R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 154618 chr2 64796341 64796341 A G AFTPH Nonsynonymous SNV T735A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 154619 chr4 155507696 155507696 C T rs960708731 FGA Stop gain W295X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 154620 chr4 90856474 90856474 C T MMRN1 Nonsynonymous SNV T548I 0.003 0 0 0 4 0 0 0 0 0 0 0 0.083 154621 chr22 38322001 38322001 C G MICALL1 Synonymous SNV P472P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.114 154622 chr5 143853518 143853518 G A rs147489800 KCTD16 Synonymous SNV S376S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.092 154623 chr4 159956246 159956246 C T rs950615847 C4orf45 Star tloss M1? 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.56 154624 chr4 160273853 160273853 C A rs372527845 RAPGEF2 Synonymous SNV P1133P 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 17.46 154625 chr2 70035051 70035051 A G rs139920396 ANXA4 Nonsynonymous SNV D107G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 154626 chr5 146258255 146258255 C T rs61326177 PPP2R2B Synonymous SNV A31A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 16.1 154627 chr16 66943217 66943217 G A rs369005066 CDH16 Nonsynonymous SNV T685M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 154628 chr16 67984306 67984306 C T rs146678704 SLC12A4 Synonymous SNV T517T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.6 154629 chr2 71062644 71062644 G A rs201606068 CD207 Synonymous SNV S56S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.35 154630 chr16 69196987 69196987 T C UTP4 Nonsynonymous SNV L435P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.51 154631 chr22 42354225 42354225 C G rs114433289 LINC00634 0 0 0.01 0 0 0 0 3 0 0 0 0 5.565 154632 chr5 1038217 1038217 C T rs377717951 NKD2 Nonsynonymous SNV P362L 0.005 0.008 0 0 6 3 0 0 0 0 0 0 7.552 154633 chr14 68159256 68159256 T A rs767984929 RDH11 Nonsynonymous SNV K83I 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 15.79 154634 chr14 68252919 68252919 A G rs138895639 ZFYVE26 Synonymous SNV A1017A 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.521 154635 chr4 17528492 17528492 C T rs745865033 CLRN2 Synonymous SNV H162H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.813 154636 chr2 74000964 74000964 G A rs372527171 DUSP11 Synonymous SNV H179H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.345 154637 chr5 150566985 150566985 G T rs147336268 CCDC69 Nonsynonymous SNV L119I 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 24.3 154638 chr14 74194203 74194203 A G ELMSAN1 Nonsynonymous SNV V707A 0 0 0 2 0 0 0.005 0 0 0 0 0 23 154639 chr14 74973982 74973982 C T rs149953380 LTBP2 Synonymous SNV P1269P 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.23 154640 chr7 142650963 142650963 G A rs150622556 KEL Synonymous SNV L335L 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 Likely benign 10.65 154641 chr3 194080659 194080659 G A rs75931901 LRRC15 Synonymous SNV L372L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.84 154642 chr2 86292415 86292415 C T rs112708556 POLR1A Synonymous SNV P680P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 15.72 154643 chr2 86338249 86338249 G A rs78436829 PTCD3 Nonsynonymous SNV V70I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 154644 chr5 127419932 127419940 GCGGCGGCG - rs746633185 SLC12A2 A105_A107del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 154645 chr2 86364202 86364202 C G rs144692694 PTCD3 Nonsynonymous SNV P640A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.12 154646 chr14 78140384 78140384 G A rs201388565 ALKBH1 Nonsynonymous SNV P314L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.3 154647 chr5 131308521 131308521 G A rs140341663 ACSL6 Nonsynonymous SNV R312C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 154648 chr22 50752273 50752273 G A rs749552283 DENND6B Synonymous SNV R391R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 154649 chr4 2065650 2065650 C T rs752594380 NAT8L Synonymous SNV F235F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.13 154650 chr7 148711998 148711998 T C rs142529726 PDIA4 Synonymous SNV P204P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.23 154651 chr22 50942322 50942322 C T rs138672971 LMF2 Nonsynonymous SNV R552Q 0 0 0.007 0 0 0 0 2 0 0 0 0 33 154652 chr3 197553870 197553870 A G rs34995940 LRCH3 Synonymous SNV Q254Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.689 154653 chr5 161128611 161128611 A G rs146995458 GABRA6 Synonymous SNV Q398Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.005 154654 chr7 149487597 149487597 C G rs775111151 SSPO 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.03 154655 chr3 31871592 31871592 C T rs74377137 OSBPL10 Synonymous SNV S223S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 20.1 154656 chr5 169535303 169535303 C T rs147596900 FOXI1 Synonymous SNV A275A 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 10.71 154657 chr3 32767048 32767048 T C rs200963829 CNOT10 Synonymous SNV N323N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.02 154658 chr4 79437047 79437047 G T rs34806279 FRAS1 Synonymous SNV P3423P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.393 154659 chr4 79437056 79437056 C T rs34678339 FRAS1 Synonymous SNV I3426I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.47 154660 chr4 79860337 79860337 C G rs199670616 PAQR3 Synonymous SNV L14L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.21 154661 chr2 108968850 108968850 C T rs17036245 SULT1C2P1 0 0 0.112 0 0 0 0 33 0 0 2 0 5.027 154662 chr4 81207686 81207686 - AGC rs34623167 FGF5 Q81_P82insQ 0.016 0.013 0.014 6 19 5 0.015 4 0 0 0 0 154663 chr5 139227532 139227532 C T rs373462739 NRG2 Synonymous SNV P775P 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 9.421 154664 chr3 38170864 38170864 G A rs139044259 ACAA1 Synonymous SNV S154S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.82 154665 chr3 108754299 108754299 T C MORC1 Synonymous SNV T449T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 154666 chr7 151864277 151864277 T C rs747663041 KMT2C Nonsynonymous SNV K3235R 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 25 154667 chr3 38743331 38743331 C T rs151182542 SCN10A Synonymous SNV A1454A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.39 154668 chr14 96552859 96552859 G C rs72702881 C14orf132 Nonsynonymous SNV M13I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.79 154669 chr3 38941458 38941458 A T SCN11A Nonsynonymous SNV L650H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 154670 chr3 38941459 38941459 - T SCN11A Frameshift insertion L650Tfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 154671 chr3 38941461 38941462 GC - SCN11A A649Sfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 154672 chr3 38941463 38941463 - TTTTTTTG SCN11A Frameshift insertion A649Kfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 154673 chr5 140216328 140216328 G A rs143805132 PCDHA7 Nonsynonymous SNV S787N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.926 154674 chr5 177683894 177683894 G A rs200801407 COL23A1 Synonymous SNV N270N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.756 154675 chr14 100381013 100381013 C T rs371443414 EML1 Synonymous SNV P577P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.14 154676 chr2 120003259 120003259 C T rs138657061 STEAP3 Nonsynonymous SNV R63C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 154677 chr17 38279499 38279499 G A MSL1 Nonsynonymous SNV G212S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.55 154678 chr14 102676015 102676015 C T rs774892208 WDR20 Nonsynonymous SNV T442M 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 154679 chr5 140737019 140737019 A T rs191856685 PCDHGA4 Nonsynonymous SNV Q782L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 154680 chr5 140801598 140801598 G A rs377701820 PCDHGA11 Synonymous SNV T268T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 154681 chr2 128338363 128338363 C T rs371259809 MYO7B Nonsynonymous SNV T349M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 22.2 154682 chr7 21912909 21912909 C T DNAH11 Synonymous SNV A3995A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.41 154683 chr2 128381756 128381756 G A rs183915346 MYO7B Nonsynonymous SNV R1277H 0.006 0 0.007 0 7 0 0 2 0 0 0 0 32 154684 chr14 105052819 105052819 C T rs150513093 C14orf180 Nonsynonymous SNV R18C 0 0 0 2 0 0 0.005 0 0 0 0 0 15.38 154685 chr7 25176138 25176138 T C rs374833615 C7orf31 Nonsynonymous SNV Y409C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 154686 chr5 145509660 145509660 C T rs763708339 LARS1 Nonsynonymous SNV R804Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 154687 chr14 105239274 105239274 C A AKT1 Synonymous SNV T371T 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 154688 chr5 102296890 102296890 A G rs1056707076 PAM Synonymous SNV L373L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.567 154689 chr4 57180902 57180902 C T rs113546709 CRACD Synonymous SNV L412L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.2 154690 chr17 39382931 39382931 T C rs758499842 KRTAP9-2 Nonsynonymous SNV C9R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 154691 chr4 57676192 57676192 T G rs933327795 SPINK2 Nonsynonymous SNV T122P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.984 154692 chr17 39411662 39411662 T C rs761540654 KRTAP9-9 Nonsynonymous SNV C9R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.27 154693 chr2 152427080 152427080 C A rs140688592 NEB Synonymous SNV A3982A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 13.03 154694 chr4 5961227 5961227 C T rs1016893316 C4orf50 Nonsynonymous SNV D1289N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.12 154695 chr7 30963533 30963533 - A AQP1 Frameshift insertion E295Rfs*3 0.001 0 0 1 1 0 0.003 0 0 0 0 0 154696 chr5 39122502 39122502 T G FYB1 Nonsynonymous SNV M646L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.92 154697 chr5 40716334 40716334 C G rs377335975 TTC33 Synonymous SNV V234V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.814 154698 chr7 31920394 31920394 T C PDE1C Nonsynonymous SNV T70A 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 14.52 154699 chr4 66535418 66535418 G T EPHA5 Nonsynonymous SNV P15T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.96 154700 chr17 2595133 2595133 G C rs149829712 CLUH Synonymous SNV T1237T 0.008 0.003 0 3 9 1 0.008 0 0 0 0 0 9.898 154701 chr3 128060593 128060593 C T rs34326479 EEFSEC Nonsynonymous SNV A435V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.18 154702 chr3 48624765 48624765 C T rs369633742 COL7A1 Synonymous SNV V999V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 7.983 154703 chr4 7044448 7044448 - GCCCTTTCGGGGCCTCGGCCTGCTCGTCC CCDC96 Frameshift insertion L73Rfs*11 0.001 0.003 0 0 1 1 0 0 0 0 0 0 154704 chr3 128654003 128654003 G A rs116179139 KIAA1257 Synonymous SNV D515D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.075 154705 chr3 128694723 128694723 G C rs114459105 KIAA1257 Nonsynonymous SNV T16S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 2.273 154706 chr3 129137135 129137135 T C rs6790768 EFCAB12 Nonsynonymous SNV R215G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.825 154707 chr3 129270117 129270117 T G rs34517542 H1FOO Synonymous SNV P186P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.032 154708 chr2 167138313 167138313 C T rs200014315 SCN9A Synonymous SNV T660T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.16 154709 chr3 130103723 130103723 G A rs58143906 COL6A5 Synonymous SNV E459E 0.007 0.008 0.003 1 8 3 0.003 1 0 0 0 0 0.337 154710 chr3 130159330 130159330 C T rs2201717 COL6A5 Stop gain Q2050X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 154711 chr3 50684203 50684203 G A rs769809042 MAPKAPK3 Nonsynonymous SNV D288N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 154712 chr17 42337212 42337212 G T rs144291541 SLC4A1 Nonsynonymous SNV H192N 0.001 0 0 3 1 0 0.008 0 0 0 0 1 0.005 154713 chr7 45123859 45123859 G A rs72497819 NACAD Synonymous SNV S640S 0.006 0.003 0.003 6 7 1 0.015 1 0 0 0 0 9.746 154714 chr3 52365226 52365226 G A rs771932160 DNAH1 Nonsynonymous SNV E312K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.255 154715 chr2 172693769 172693769 T C rs200974554 SLC25A12 Synonymous SNV Q158Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 154716 chr2 173340350 173340350 T C rs767143147 ITGA6 Synonymous SNV D402D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.576 154717 chr5 170345739 170345741 ATC - rs754466787 RANBP17 H327del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 154718 chr2 179398822 179398822 C T rs200430493 TTN Nonsynonymous SNV V25109I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.06 154719 chr3 52834667 52834667 G A rs201898860 ITIH3 Nonsynonymous SNV D397N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 154720 chr3 53842681 53842681 C T rs571923567 CACNA1D Nonsynonymous SNV R1895W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 154721 chr17 46846567 46846567 G A rs138581790 TTLL6 Synonymous SNV G513G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.731 154722 chr5 175798746 175798746 A G rs143925981 ARL10 Nonsynonymous SNV M195V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.404 154723 chr17 47233955 47233955 C A B4GALNT2 Nonsynonymous SNV P163H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.94 154724 chr17 5336375 5336375 G A rs761396953 C1QBP Nonsynonymous SNV T270I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.03 154725 chr3 138400880 138400880 T C rs201051343 PIK3CB Synonymous SNV R323R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.185 154726 chr5 176477716 176477716 G A rs200754200 ZNF346 Nonsynonymous SNV R63H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.529 154727 chr5 176910717 176910717 G A rs138351507 PDLIM7 Synonymous SNV N434N 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 11.43 154728 chr3 141499458 141499458 G A rs377371842 GRK7 Synonymous SNV T285T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.557 154729 chr3 61975326 61975326 C T rs182010071 PTPRG Nonsynonymous SNV T73M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 154730 chr3 62253105 62253105 T G PTPRG Nonsynonymous SNV L893V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 154731 chr3 141595739 141595739 C T rs145984073 ATP1B3 Synonymous SNV T32T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 154732 chr5 140176547 140176547 A G PCDHA2 Synonymous SNV L666L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.017 154733 chr5 140182039 140182039 G C PCDHA3 Synonymous SNV S419S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 154734 chr3 78719378 78719378 G A ROBO1 Synonymous SNV F436F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.53 154735 chr17 53471727 53471727 G A rs1052816837 MMD Stop gain R229X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 41 154736 chr5 7867920 7867920 T G rs200439700 FASTKD3 Nonsynonymous SNV N93H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 154737 chr15 56387960 56387960 G A rs201488404 RFX7 Nonsynonymous SNV P559S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 154738 chr4 89352378 89352378 T C rs187435909 HERC6 Nonsynonymous SNV M688T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.5 154739 chr2 187627172 187627172 T C FAM171B Synonymous SNV N701N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.381 154740 chr5 179498554 179498554 G A rs772180561 RNF130 Nonsynonymous SNV A50V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.7 154741 chr4 90035348 90035348 C A rs28396429 TIGD2 Nonsynonymous SNV A408D 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 24.4 154742 chr2 190719296 190719296 A G rs148690800 PMS1 Nonsynonymous SNV K257R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 154743 chr15 62160874 62160874 C T rs77673743 VPS13C Nonsynonymous SNV G3573D 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Benign 32 154744 chr3 98518620 98518620 C T rs771366365 DCBLD2 Nonsynonymous SNV E642K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 154745 chr3 153972547 153972547 A G rs765848814 ARHGEF26 Nonsynonymous SNV K803E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 154746 chr5 86690888 86690888 G A rs772259326 CCNH Synonymous SNV Y249Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.32 154747 chr7 7516808 7516808 G C rs201982609 COL28A1 Nonsynonymous SNV P390A 0.005 0 0 0 6 0 0 0 0 0 0 0 22.9 154748 chr5 141027082 141027082 C T FCHSD1 Synonymous SNV L237L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.253 154749 chr5 141242857 141242857 G C rs61747619 PCDH1 Synonymous SNV G634G 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 0.879 154750 chr15 65236879 65236879 C T rs144426862 ANKDD1A Nonsynonymous SNV R366C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 154751 chr5 145465057 145465057 C T rs145622374 PLAC8L1 Synonymous SNV L120L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.01 154752 chr5 96031558 96031558 G A rs199633496 CAST Nonsynonymous SNV G53S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.722 154753 chr2 206997706 206997706 C T rs137889316 NDUFS1 Nonsynonymous SNV V395I 0.003 0.005 0.017 0 3 2 0 5 0 0 0 0 Uncertain significance 23 154754 chr5 38418210 38418210 G C rs761758755 EGFLAM Nonsynonymous SNV G279R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 154755 chr2 207482311 207482311 A G rs775805041 ADAM23 Nonsynonymous SNV K820R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 154756 chr5 98192095 98192095 G A rs200109773 CHD1 Nonsynonymous SNV R1708W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 154757 chr4 108824511 108824511 G A rs9998850 SGMS2 Synonymous SNV T232T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 8.967 154758 chr17 16527516 16527516 C T rs116985228 ZNF624 Synonymous SNV E228E 0.017 0.016 0.007 2 20 6 0.005 2 0 0 0 0 0.348 154759 chr5 149512424 149512424 A G PDGFRB Nonsynonymous SNV V275A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.008 154760 chr5 41149448 41149448 C T rs142836385 C6 Nonsynonymous SNV G840S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 17.74 154761 chr5 115831176 115831176 T C rs187269294 SEMA6A Nonsynonymous SNV K126R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.86 154762 chr2 210559417 210559417 G A rs150391168 MAP2 Synonymous SNV E837E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.109 154763 chr5 150496735 150496735 G A rs200918889 ANXA6 Nonsynonymous SNV R477C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 154764 chr17 18875008 18875008 G A rs187116335 FAM83G Synonymous SNV D712D 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 4.819 154765 chr7 95157324 95157324 G C ASB4 Synonymous SNV T229T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.104 154766 chr7 95606877 95606877 C A rs35314029 DYNC1I1 Nonsynonymous SNV L162M 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 17.08 154767 chr7 95750647 95750647 G A rs35539807 SLC25A13 Synonymous SNV N629N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 6.714 154768 chr4 118975242 118975242 A G rs10012897 NDST3 Synonymous SNV P59P 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 0.005 154769 chr2 216279641 216279641 C T rs147845471 FN1 Synonymous SNV P620P 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Likely benign 10.92 154770 chr6 110679379 110679379 G A rs753848276 METTL24 Synonymous SNV L33L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.222 154771 chr6 110768128 110768128 G A rs61729086 SLC22A16 Nonsynonymous SNV A200V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 15.89 154772 chr5 52779983 52779983 G A rs150492112 FST Nonsynonymous SNV R194Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.7 154773 chr7 99091443 99091443 C G rs777335435 ZNF394 Synonymous SNV G465G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.56 154774 chr15 78921890 78921890 C T rs776652908 CHRNB4 Nonsynonymous SNV V253I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 29.8 154775 chr15 78923490 78923490 C T rs772727413 CHRNB4 Nonsynonymous SNV R96H 0 0 0 2 0 0 0.005 0 0 0 0 0 24 154776 chr4 123161331 123161331 C T rs10023835 KIAA1109 Synonymous SNV P1498P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 154777 chr8 101078453 101078453 C T rs751254727 RGS22 Synonymous SNV S41S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 13.15 154778 chr4 123201125 123201125 G A rs28651726 KIAA1109 Synonymous SNV Q2929Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.838 154779 chr4 123271189 123271189 G A rs17005674 KIAA1109 Synonymous SNV K4603K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 154780 chr4 123277001 123277001 A G rs10017270 KIAA1109 Nonsynonymous SNV T4786A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.17 154781 chr4 123302244 123302244 C T rs28572399 ADAD1 Synonymous SNV Y90Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.639 154782 chr4 123843673 123843673 C G rs114290529 NUDT6 Nonsynonymous SNV G19R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 154783 chr5 65370927 65370927 C G rs201285970 ERBIN Nonsynonymous SNV Q1237E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.3 154784 chr4 145655986 145655986 C T rs199675746 HHIP Synonymous SNV T618T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 154785 chr5 170736759 170736759 C T rs775113553 TLX3 Synonymous SNV S130S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 154786 chr8 121824028 121824028 C T rs545396402 SNTB1 Nonsynonymous SNV R19Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.6 154787 chr15 90171898 90171898 G A rs142598777 KIF7 Nonsynonymous SNV R1262W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 22.9 154788 chr8 124219493 124219493 C T rs752992647 FAM83A Synonymous SNV Y234Y 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 13.63 154789 chr4 155254006 155254006 C G DCHS2 Synonymous SNV S1118S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 154790 chr15 90378849 90378849 C G rs143234818 AP3S2, ARPIN-AP3S2 Synonymous SNV R160R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.976 154791 chr2 234365897 234365897 C G rs777125817 DGKD Nonsynonymous SNV L791V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 154792 chr5 178563002 178563002 C T rs35372714 ADAMTS2 Nonsynonymous SNV G665R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 23.5 154793 chr5 179020591 179020591 G A rs200339000 RUFY1 Nonsynonymous SNV R345H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 28.9 154794 chr15 94882585 94882585 A G rs191271656 MCTP2 Nonsynonymous SNV Y235C 0 0 0 2 0 0 0.005 0 0 0 0 0 28 154795 chr5 179143257 179143257 A G rs777342800 CANX Synonymous SNV P183P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.61 154796 chr3 37368193 37368193 A G rs143679231 GOLGA4 Nonsynonymous SNV K1606E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 154797 chr17 38066010 38066010 T G rs552097998 GSDMB Nonsynonymous SNV K192T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.2 154798 chr17 79514258 79514258 G A rs118085961 FAAP100 Nonsynonymous SNV S617L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.45 154799 chr17 38145067 38145067 G C rs9913561 PSMD3 Synonymous SNV V227V 0.001 0.005 0.007 1 1 2 0.003 2 0 0 1 0 Benign 11.14 154800 chr4 169799198 169799198 G A rs587780755 PALLD Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.114 154801 chr17 38172815 38172815 C A rs139012113 CSF3 Synonymous SNV P91P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.22 154802 chr6 155469426 155469426 C T rs112050574 TIAM2 Synonymous SNV S662S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.5 154803 chr2 237076367 237076367 A G GBX2 Nonsynonymous SNV I83T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 154804 chr5 90055259 90055259 G A rs201386977 ADGRV1 Nonsynonymous SNV D3992N 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 33 154805 chr2 238257270 238257270 G A rs370862741 COL6A3 Nonsynonymous SNV R1699C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 154806 chr17 80049486 80049486 C T rs373141943 FASN Synonymous SNV A368A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.636 154807 chr5 149669159 149669159 C T rs760847773 CAMK2A Synonymous SNV T10T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 154808 chr6 158902103 158902103 C T rs138863746 TULP4 Nonsynonymous SNV P423L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 154809 chr17 80195293 80195293 G T rs370074725 SLC16A3 Nonsynonymous SNV R216L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 154810 chr5 150566988 150566988 C T rs751437294 CCDC69 Nonsynonymous SNV A118T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.9 154811 chr2 239082275 239082275 C T rs1010751554 ILKAP Nonsynonymous SNV V286M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 154812 chr2 240007502 240007566 GCGGATCTGACTATCTCTCACGTACAATCTCCTCCCTGTACACGAAGGAGACTCTGCTCTAACAT - MIR4441 0 0 0.01 0 0 0 0 3 0 0 0 0 154813 chr17 39137290 39137290 C T rs8069529 KRT40 Synonymous SNV T267T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.58 154814 chr2 240011800 240011800 T A rs750041083 HDAC4 Nonsynonymous SNV T760S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 154815 chr17 39155923 39155923 G A rs147827120 KRTAP3-2 Synonymous SNV C61C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.62 154816 chr2 241627172 241627172 C T rs78189951 LOC285191 0 0 0.024 0 0 0 0 7 0 0 1 0 5.55 154817 chr2 241627213 241627213 G A rs115170552 LOC285191 0 0 0.027 0 0 0 0 8 0 0 1 0 2.052 154818 chr2 241628022 241628022 G A rs145746752 LOC285191 0 0 0.031 0 0 0 0 9 0 0 1 0 1.394 154819 chr3 42700117 42700117 C T ZBTB47 Synonymous SNV L90L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.907 154820 chr16 706828 706828 C T rs747005220 WDR90 Nonsynonymous SNV R767C 0.003 0 0 3 4 0 0.008 0 0 0 0 0 24.9 154821 chr3 44843299 44843299 A G KIF15 Nonsynonymous SNV K448E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 154822 chr4 23815488 23815490 AAG - rs755731634 PPARGC1A S412del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 154823 chr16 1573928 1573928 G C IFT140 Nonsynonymous SNV N1057K 0 0 0 3 0 0 0.008 0 0 0 0 0 26.1 154824 chr5 52402979 52402979 G A rs368637182 MOCS2 Nonsynonymous SNV S9L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 154825 chr16 1825668 1825668 C T rs145356641 EME2 Synonymous SNV L254L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.503 154826 chr5 175923590 175923590 T G rs144969484 FAF2 Synonymous SNV P255P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.32 154827 chr4 3520701 3520701 T C rs778333388 LRPAP1 Synonymous SNV K163K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.967 154828 chr18 25565157 25565157 T A rs151218256 CDH2 Nonsynonymous SNV E641D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.33 154829 chr4 3769573 3769573 G C ADRA2C Nonsynonymous SNV V414L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.06 154830 chr5 176882852 176882852 G C PRR7 Synonymous SNV L185L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 154831 chr16 2136794 2136794 G A rs35282988 TSC2 Synonymous SNV K1393K 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.71 154832 chr5 176935462 176935462 C T rs369375986 DOK3 Nonsynonymous SNV D50N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 154833 chr4 38928754 38928754 C - rs145782025 FAM114A1 Stop gain L453* 0.001 0 0 1 1 0 0.003 0 0 0 0 0 154834 chr3 48698930 48698930 G A rs200621704 CELSR3 Nonsynonymous SNV P380S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.528 154835 chr2 31010049 31010049 C T rs555164868 CAPN13 Nonsynonymous SNV G48D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 154836 chr17 42927729 42927729 G A rs148662684 HIGD1B Nonsynonymous SNV V89I 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 0.034 154837 chr4 39459232 39459232 G C RPL9 Nonsynonymous SNV Q78E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 154838 chr16 3187464 3187464 G A ZNF213 Synonymous SNV E61E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.524 154839 chr2 36583648 36583648 C T CRIM1 Synonymous SNV N71N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 154840 chr5 179260183 179260183 C T rs11548642 SQSTM1 Synonymous SNV G302G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.31 154841 chr17 46135674 46135674 A G rs117756696 NFE2L1 Synonymous SNV T300T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.366 154842 chr2 37594460 37594460 A T rs573381103 QPCT Nonsynonymous SNV D211V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 154843 chr16 3614136 3614136 G A rs201264477 NLRC3 Nonsynonymous SNV R268C 0 0 0 3 0 0 0.008 0 0 0 0 0 28.1 154844 chr2 38541781 38541781 G A rs767917005 ATL2 Nonsynonymous SNV A56V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 154845 chr17 46874442 46874442 C T rs149873082 TTLL6 Nonsynonymous SNV R298H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.88 154846 chr16 3819284 3819284 T C rs150923988 CREBBP Nonsynonymous SNV N946S 0 0 0 3 0 0 0.008 0 0 0 0 0 2.369 154847 chr3 49940517 49940517 C T rs151106960 MST1R Nonsynonymous SNV D176N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 154848 chr16 4787848 4787848 C G rs371625606 C16orf71 Synonymous SNV T59T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.556 154849 chr17 47656587 47656587 G A rs199888859 NXPH3 Synonymous SNV T228T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 8.604 154850 chr16 4802585 4802585 G A rs143479964 ZNF500 Nonsynonymous SNV T412I 0 0.003 0 4 0 1 0.01 0 0 0 0 0 6.966 154851 chr5 33461386 33461386 G A rs768569803 TARS1 Nonsynonymous SNV D513N 0 0.005 0 0 0 2 0 0 0 0 0 0 15.34 154852 chr4 57173842 57173842 G A rs202063697 CRACD Nonsynonymous SNV V88I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.386 154853 chr17 49354528 49354528 A G rs779505055 UTP18 Nonsynonymous SNV Y292C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.2 154854 chr2 51255090 51255090 G A rs199784029 NRXN1 Nonsynonymous SNV P108S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 2.274 154855 chr5 79024765 79024765 G T rs778503180 CMYA5 Nonsynonymous SNV K59N 0.003 0 0 0 4 0 0 0 0 0 0 0 25.1 154856 chr6 37442317 37442317 A G rs11963196 CMTR1 Synonymous SNV T613T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.62 154857 chr2 61310342 61310342 C G rs879318449 KIAA1841 Synonymous SNV T115T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 154858 chr2 61315356 61315356 G A rs112927139 KIAA1841 Nonsynonymous SNV R172Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22.7 154859 chr6 37452608 37452608 T G rs77648212 CCDC167 Synonymous SNV L56L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.58 154860 chr4 6303880 6303880 C T rs139236812 WFS1 Synonymous SNV G786G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.529 154861 chr17 56573275 56573275 C G rs201484679 MTMR4 Nonsynonymous SNV R743T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.876 154862 chr6 154831216 154831216 T C rs146856901 CNKSR3 Synonymous SNV Q11Q 0.005 0.008 0 0 6 3 0 0 0 0 0 0 7.021 154863 chr17 59480547 59480547 C T rs140013823 TBX2 Synonymous SNV V263V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 17.52 154864 chr16 21080872 21080872 G C DNAH3 Nonsynonymous SNV A1036G 0 0 0 3 0 0 0.008 0 0 0 0 0 19.35 154865 chr16 21261569 21261569 A G rs148626912 ANKS4B Nonsynonymous SNV R228G 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 12.68 154866 chr5 94957181 94957181 C G rs367670119 GPR150 Nonsynonymous SNV P401R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.7 154867 chr16 23721844 23721844 C T rs150200841 ERN2 Nonsynonymous SNV V76I 0.006 0.01 0.003 8 7 4 0.021 1 0 0 0 0 24.8 154868 chr5 54579436 54579436 G A rs143367081 DHX29 Synonymous SNV P520P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 10.4 154869 chr6 161162350 161162350 G A rs142551860 PLG Nonsynonymous SNV V676I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 154870 chr6 16279057 16279057 C T rs753377612 GMPR Nonsynonymous SNV P197L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 33 154871 chr16 27221567 27221567 G A KDM8 Synonymous SNV V79V 0.002 0 0 5 2 0 0.013 0 0 0 0 0 9.855 154872 chr4 77660380 77660380 - GGGGCAAGGGAGTGCCACCCCCATCCT SHROOM3 W361_S362insGKGVPPPSW 0.001 0 0 0 1 0 0 0 0 0 0 0 154873 chr6 108222653 108222653 G A rs146559698 SEC63 Synonymous SNV F426F 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 11.97 154874 chr2 86371646 86371646 C T IMMT Synonymous SNV L673L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.832 154875 chr4 79421050 79421050 G A rs376458338 FRAS1 Synonymous SNV K3097K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.41 154876 chr6 170179367 170179367 C T rs201637565 ERMARD Nonsynonymous SNV A484V 0.005 0.021 0 5 6 8 0.013 0 0 0 0 0 14.12 154877 chr2 87042751 87042751 G A rs78639210 CD8B Nonsynonymous SNV T195I 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 0.264 154878 chr16 30735212 30735212 A G rs555654281 SRCAP Synonymous SNV G1489G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.532 154879 chr16 30991196 30991196 - GAGGGGGAGGAA rs773615121 SETD1A E1372_E1373insGEEE 0 0 0 2 0 0 0.005 0 0 0 0 0 154880 chr6 18215274 18215274 G C rs766339921 KDM1B Nonsynonymous SNV E484Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 154881 chr16 31121757 31121757 G T BCKDK Synonymous SNV T193T 0.002 0 0 4 2 0 0.01 0 0 0 0 0 7.984 154882 chr6 24666830 24666830 T C rs35744230 TDP2 Nonsynonymous SNV N59D 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Likely benign 18.98 154883 chr6 52052458 52052458 C G rs139620979 IL17A Nonsynonymous SNV R29G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.58 154884 chr16 48155735 48155735 C A ABCC12 Nonsynonymous SNV G535V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 26.4 154885 chr16 49669724 49669724 G A rs374683537 ZNF423 Synonymous SNV A996A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.807 154886 chr17 73518146 73518146 T C rs776960594 TSEN54 Synonymous SNV A328A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.837 154887 chr3 10044709 10044709 G A rs62245493 EMC3-AS1 0 0 0.068 0 0 0 0 20 0 0 0 0 0.351 154888 chr3 101481335 101481335 A G rs145813958 CEP97 Synonymous SNV R549R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 154889 chr6 117708085 117708085 C T rs139359697 ROS1 Nonsynonymous SNV E698K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 154890 chr3 108072387 108072387 G A rs140364028 HHLA2 Nonsynonymous SNV V60I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.2 154891 chr6 63991047 63991047 T G rs6454127 LGSN Nonsynonymous SNV N137H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.002 154892 chr6 64004844 64004844 C T rs35691434 LGSN Nonsynonymous SNV G46E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.71 154893 chr6 64394917 64394917 G A rs75261369 PHF3 Nonsynonymous SNV E344K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 24 154894 chr6 64401776 64401776 T C rs755664039 PHF3 Nonsynonymous SNV L692P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.32 154895 chr17 76047439 76047439 A G rs780665319 TNRC6C Nonsynonymous SNV T766A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 154896 chr4 983483 983483 G A rs200470975 SLC26A1 Nonsynonymous SNV S415F 0.007 0 0 1 8 0 0.003 0 0 0 0 0 Uncertain significance 25.7 154897 chr4 123192376 123192376 A G KIAA1109 Nonsynonymous SNV H2566R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 154898 chr4 123301349 123301349 A C ADAD1 Nonsynonymous SNV E42A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 154899 chr6 132966632 132966632 T A rs200795344 TAAR1 Nonsynonymous SNV I171L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 154900 chr5 101593790 101593790 T C rs747627858 SLCO4C1 Nonsynonymous SNV N377S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 154901 chr6 34857319 34857321 GCG - rs764279536 ANKS1A G53del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 154902 chr9 100367036 100367036 G C rs780347726 TSTD2 Nonsynonymous SNV L409V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 11.35 154903 chr16 69727412 69727412 G A NFAT5 Synonymous SNV Q1003Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.205 154904 chr6 35423663 35423663 G A rs776263525 FANCE Nonsynonymous SNV D130N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 154905 chr19 4491586 4491586 A G HDGFL2 Synonymous SNV R171R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.212 154906 chr6 82910358 82910358 A G IBTK Nonsynonymous SNV V953A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.19 154907 chr6 10405064 10405064 T A rs530556555 TFAP2A-AS2 0.004 0.005 0 0 5 2 0 0 0 0 0 0 10.85 154908 chr6 106536126 106536126 G A PRDM1 Synonymous SNV E31E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.085 154909 chr3 124393380 124393380 C T rs56085806 KALRN Nonsynonymous SNV A642V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 154910 chr19 4817693 4817693 C G rs141739488 TICAM1 Nonsynonymous SNV D233H 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Uncertain significance 4.839 154911 chr4 152200976 152200976 C T rs769379834 PRSS48 Synonymous SNV R27R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 154912 chr4 152570653 152570653 C A rs746499636 FAM160A1 Nonsynonymous SNV A487D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 154913 chr6 107391084 107391084 G A rs41292438 BEND3 Synonymous SNV D437D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.59 154914 chr5 122718500 122718500 C T rs760786764 CEP120 Synonymous SNV T622T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 154915 chr16 74708978 74708978 G T rs148386905 MLKL Nonsynonymous SNV R213S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.414 154916 chr3 125775266 125775266 C T rs140883435 SLC41A3 Nonsynonymous SNV V44M 0.003 0.003 0.02 3 3 1 0.008 6 0 0 0 0 8.049 154917 chr6 111303316 111303316 A G rs150826122 RPF2 Nonsynonymous SNV T3A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.289 154918 chr6 158923222 158923222 G A TULP4 Nonsynonymous SNV A843T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 154919 chr5 132161562 132161562 C T SHROOM1 Nonsynonymous SNV A91T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.974 154920 chr6 43412531 43412531 C T rs761231615 ABCC10 Nonsynonymous SNV R871W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 154921 chr18 5145596 5145596 C T rs745657091 AKAIN1 Nonsynonymous SNV V59I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.58 154922 chr9 117104333 117104333 A G AKNA Nonsynonymous SNV V1158A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 154923 chr5 137261578 137261578 A G rs200648496 PKD2L2 Nonsynonymous SNV D443G 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 23.4 154924 chr5 137271518 137271518 G T rs150823352 PKD2L2 Nonsynonymous SNV W467C 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 28.8 154925 chr5 137518338 137518338 G T rs374761244 KIF20A Nonsynonymous SNV G193V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.6 154926 chr4 169196609 169196609 C T rs17853802 DDX60 Nonsynonymous SNV V731I 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.01 154927 chr5 13753425 13753425 C A rs368959723 DNAH5 Nonsynonymous SNV A3597S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 154928 chr5 137722303 137722303 C T rs370533044 KDM3B Nonsynonymous SNV S458L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 154929 chr5 13871096 13871096 G A rs755018988 DNAH5 Nonsynonymous SNV A1205V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 154930 chr6 161587355 161587355 G A rs758554938 AGPAT4 Synonymous SNV I91I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.51 154931 chr16 84495635 84495635 G A rs200465429 ATP2C2 Nonsynonymous SNV M723I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.2 154932 chr4 170628068 170628068 T C rs778004326 CLCN3 Synonymous SNV L573L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.07 154933 chr3 135742018 135742018 G A rs374006910 PPP2R3A Nonsynonymous SNV R36Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 154934 chr3 13612208 13612208 C T rs766937512 FBLN2 Nonsynonymous SNV P118L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 154935 chr5 139251326 139251326 G A rs371785321 NRG2 Synonymous SNV G364G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.65 154936 chr5 139744060 139744060 C T rs779286570 SLC4A9 Nonsynonymous SNV R490C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 154937 chr4 177049909 177049909 C T rs146789582 WDR17 Nonsynonymous SNV R271C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 154938 chr3 138289282 138289282 A C rs764909043 CEP70 Nonsynonymous SNV L95V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.8 154939 chr18 19780682 19780682 T A GATA6 Nonsynonymous SNV Y562N 0.004 0.005 0 0 5 2 0 0 0 0 0 0 26.3 154940 chr16 88688722 88688722 G T rs528741601 ZC3H18 Synonymous SNV V531V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.8 154941 chr18 28660232 28660232 T C rs144242114 DSC2 Synonymous SNV R450R 0.01 0.021 0.007 3 12 8 0.008 2 0 0 0 0 Benign/Likely benign 2.89 154942 chr18 28671071 28671071 G A rs727504578 DSC2 Nonsynonymous SNV R132C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 27.1 154943 chr18 28934879 28934879 C T DSG1 Nonsynonymous SNV T907I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.69 154944 chr18 28983565 28983565 T C rs7229252 DSG4 Nonsynonymous SNV I535T 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Benign 1.656 154945 chr6 147123199 147123199 A T rs574361178 KATNBL1P6 0 0.003 0 0 0 1 0 0 0 0 0 0 1.754 154946 chr16 89017351 89017351 C A LOC100129697 Synonymous SNV V275V 0 0 0 2 0 0 0.005 0 0 0 0 0 8.183 154947 chr6 151688016 151688016 C T rs200451298 ZBTB2 Nonsynonymous SNV R62H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 154948 chr4 2964911 2964911 G C rs199574576 NOP14 Nonsynonymous SNV R46G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27 154949 chr16 89724808 89724808 C T rs371560786 SPATA33 Nonsynonymous SNV P33S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 154950 chr4 3076672 3076672 - CCGCCG HTT P49_Q50insPP 0.005 0.013 0.007 0 6 5 0 2 1 1 0 0 154951 chr16 89922616 89922616 G C rs140601253 SPIRE2 Synonymous SNV P358P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.854 154952 chr6 32520683 32520683 G A rs66935282 HLA-DRB6 0.005 0 0 0 6 0 0 0 3 0 0 0 4.624 154953 chr16 89977603 89977603 C T rs558866331 TCF25 Nonsynonymous SNV A663V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.844 154954 chr6 32520707 32520707 G C rs66723041 HLA-DRB6 0.005 0.005 0 0 6 2 0 0 3 1 0 0 2.852 154955 chr3 164906042 164906042 C A SLITRK3 Synonymous SNV G859G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 154956 chr4 36230249 36230249 C T ARAP2 Nonsynonymous SNV R287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 154957 chr16 90109548 90109548 C G URAHP 0 0 0 3 0 0 0.008 0 0 0 0 0 2.034 154958 chr7 107580556 107580556 G A rs141885441 LAMB1 Synonymous SNV I1213I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 14.87 154959 chr17 171170 171170 C T rs371085293 RPH3AL Synonymous SNV T38T 0 0 0 2 0 0 0.005 0 0 0 0 0 15.34 154960 chr6 155153483 155153483 T A rs766623506 SCAF8 Nonsynonymous SNV L924I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.483 154961 chr7 108213532 108213532 G A rs17155937 DNAJB9 Nonsynonymous SNV R136H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 9.782 154962 chr7 112099020 112099020 A G rs150651401 IFRD1 Nonsynonymous SNV I122V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.067 154963 chr3 174814895 174814895 G A NAALADL2 Nonsynonymous SNV C120Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 154964 chr5 150095165 150095165 A G rs36019301 DCTN4 Synonymous SNV D320D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 0.113 154965 chr17 1552123 1552123 G A RILP Synonymous SNV G215G 0 0 0 2 0 0 0.005 0 0 0 0 0 8.095 154966 chr3 178137030 178137030 T A rs78821466 LINC01014 0 0 0.051 0 0 0 0 15 0 0 0 0 16.09 154967 chr4 44680727 44680727 C T rs201569798 GUF1 Nonsynonymous SNV P30S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 5.105 154968 chr18 60191554 60191554 G A rs903609718 ZCCHC2 Synonymous SNV E299E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.603 154969 chr4 47645056 47645056 T C rs779096372 CORIN Synonymous SNV L688L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.834 154970 chr7 100479746 100479746 C T rs143241109 SRRT Synonymous SNV L157L 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 0.44 154971 chr5 156770375 156770375 G A rs34741916 FNDC9 Nonsynonymous SNV T57M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 154972 chr3 185165628 185165628 T C MAP3K13 Synonymous SNV S94S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.249 154973 chr5 156926618 156926618 G A rs13354726 ADAM19 Nonsynonymous SNV A454V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 154974 chr7 131895888 131895888 C G PLXNA4 Synonymous SNV L704L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.77 154975 chr6 166831721 166831721 C T rs750818492 RPS6KA2 Nonsynonymous SNV A546T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.5 154976 chr9 138678185 138678185 G A rs756256138 KCNT1 Nonsynonymous SNV R1062H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 154977 chr4 5624415 5624415 T C rs202191109 EVC2 Nonsynonymous SNV M704V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 154978 chr4 56319244 56319244 G T rs6855837 CLOCK Nonsynonymous SNV L395I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.7 154979 chr9 139262254 139262254 G A rs145052557 CARD9 Synonymous SNV H368H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.758 154980 chr7 135370357 135370357 C G rs375873088 SLC13A4 Synonymous SNV L507L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.97 154981 chr3 187897171 187897171 G C rs977055226 FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 8.133 154982 chr6 41010736 41010736 A T rs140291735 TSPO2 Nonsynonymous SNV Q4H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 19.26 154983 chr3 189706798 189706798 G A rs56026146 P3H2 Nonsynonymous SNV H104Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 154984 chr6 41739603 41739603 G A rs74687105 FRS3 Nonsynonymous SNV P172L 0.009 0 0.003 2 11 0 0.005 1 0 0 0 0 22.9 154985 chr6 168944332 168944332 G A rs544718652 SMOC2 Nonsynonymous SNV R164H 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.5 154986 chr9 139571521 139571521 G A rs139719956 AGPAT2 Synonymous SNV P128P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.218 154987 chr6 42203982 42203982 G A rs78813717 TRERF1 Synonymous SNV P1029P 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Benign 10.21 154988 chr4 5862846 5862846 T A rs766137456 CRMP1 Nonsynonymous SNV T188S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28 154989 chr5 172197776 172197776 C G rs201026723 DUSP1 Nonsynonymous SNV M60I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 154990 chr17 5984264 5984264 C T rs370966557 WSCD1 Nonsynonymous SNV R96W 0 0 0 2 0 0 0.005 0 0 0 0 0 20.1 154991 chr9 140146294 140146294 C T rs548819722 STPG3 Nonsynonymous SNV T72M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.002 154992 chr7 143747858 143747858 C T rs139541008 OR2A5 Nonsynonymous SNV R122W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.47 154993 chr5 177565139 177565139 G A rs759157870 RMND5B Nonsynonymous SNV V7M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.3 154994 chr3 20179130 20179130 G A rs142342924 MIR3135A 0 0 0.037 0 0 0 0 11 0 0 0 0 6.632 154995 chr3 21447421 21447421 G A rs186114023 VENTXP7 0 0 0.017 0 0 0 0 5 0 0 0 0 0.831 154996 chr3 23997604 23997604 C T rs61732085 NR1D2 Synonymous SNV C45C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 13.65 154997 chr3 33060008 33060008 T C rs979601059 GLB1 Nonsynonymous SNV S296G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 154998 chr7 149558421 149558421 C T rs370594443 ZNF862 Synonymous SNV C724C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.683 154999 chr3 36873842 36873842 T C rs769152979 TRANK1 Nonsynonymous SNV E2367G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 155000 chr9 33037104 33037104 C G DNAJA1 Nonsynonymous SNV I165M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.2 155001 chr5 32088082 32088082 G A rs147017641 PDZD2 Nonsynonymous SNV D1510N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 155002 chr3 38781078 38781078 G A rs754351607 SCN10A Synonymous SNV I638I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 155003 chr7 105636742 105636742 T G CDHR3 Nonsynonymous SNV S131A 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 155004 chr7 107254157 107254157 A G BCAP29, DUS4L-BCAP29 Nonsynonymous SNV K250R 0.001 0 0 0 1 0 0 0 0 0 0 0 4 155005 chr5 36975924 36975924 A G rs555224277 NIPBL Synonymous SNV S305S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.946 155006 chr3 42774417 42774417 C T rs367680312 CCDC13 Synonymous SNV T519T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 18.08 155007 chr7 156742783 156742783 G A rs753732839 NOM1 Nonsynonymous SNV E118K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.665 155008 chr19 3783886 3783886 G A rs774669158 MATK Nonsynonymous SNV R129C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 155009 chr5 39315897 39315897 A T rs149201228 C9 Nonsynonymous SNV L284M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.462 155010 chr9 5185602 5185602 T A rs201429744 INSL6 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.5 155011 chr17 11659956 11659956 C T rs61732585 DNAH9 Synonymous SNV H2270H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 13.75 155012 chr7 195601 195601 C T rs200962622 FAM20C Nonsynonymous SNV A218V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.6 155013 chr4 89314721 89314721 C T rs778687408 HERC6 Nonsynonymous SNV A249V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 155014 chr17 15406302 15406302 A G rs972871168 TVP23C Nonsynonymous SNV M236T 0 0 0 3 0 0 0.008 0 0 0 0 0 19.97 155015 chr4 951858 951858 G A rs145355643 TMEM175 Synonymous SNV S281S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.933 155016 chr7 127014574 127014574 T C rs146028755 ZNF800 Synonymous SNV Q272Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.002 155017 chr7 21675608 21675608 G A rs192515447 DNAH11 Synonymous SNV Q1540Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.794 155018 chr6 89891732 89891732 T G rs762092301 GABRR1 Nonsynonymous SNV I264L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 28.1 155019 chr3 46850958 46850958 A C rs754714417 PRSS44P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.143 155020 chr6 46977321 46977321 - T ADGRF1 Frameshift insertion S617Kfs*22 0.003 0.01 0 0 4 4 0 0 0 0 0 0 155021 chr17 19318130 19318130 G A rs374810053 RNF112 Synonymous SNV K352K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.445 155022 chr6 90642345 90642345 A G rs766772225 BACH2 Synonymous SNV L770L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 0.342 155023 chr17 19681018 19681018 T G ULK2 Synonymous SNV A976A 0 0 0 3 0 0 0.008 0 0 0 0 0 10.66 155024 chr19 6760955 6760955 C T rs749455704 SH2D3A Nonsynonymous SNV R38H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 155025 chr6 49754046 49754046 A G rs757434404 PGK2 Synonymous SNV D285D 0.004 0.01 0 0 5 4 0 0 0 0 0 0 0.04 155026 chr3 50006170 50006170 C T rs765230457 RBM6 Nonsynonymous SNV R438W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 155027 chr7 139168308 139168308 G A KLRG2 Synonymous SNV P27P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.043 155028 chr19 7573103 7573103 C T TEX45 Synonymous SNV S435S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.094 155029 chr7 141705343 141705343 A C MGAM Nonsynonymous SNV K5Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 155030 chr3 56651613 56651613 - G rs567591114 CCDC66 Frameshift insertion W741Vfs*48 0 0 0.007 0 0 0 0 2 0 0 0 0 155031 chr6 56483588 56483588 T C DST Synonymous SNV K1748K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.919 155032 chr19 8186209 8186209 C T rs149409795 FBN3 Synonymous SNV P1048P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 10.02 155033 chr3 69247917 69247917 T C rs189397393 FRMD4B Synonymous SNV Q295Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.295 155034 chr7 149477363 149477363 C T rs754307232 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 9.858 155035 chr6 74079494 74079494 C T rs202009078 OOEP Nonsynonymous SNV A8T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.6 155036 chrX 114856561 114856561 T A PLS3 Nonsynonymous SNV L26H 0.003 0.01 0 0 4 4 0 0 1 2 0 0 24 155037 chrX 115945130 115945130 A - rs758161998 LOC100126447 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 155038 chr3 8988976 8988976 T G rs749834897 RAD18 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 155039 chr17 34171807 34171827 GGAGGAGATCGAGGAGGTTAC - rs760281454 TAF15 G517_R523del 0 0 0.003 3 0 0 0.008 1 0 0 0 0 155040 chr3 97583423 97583423 C T rs760007014 CRYBG3 Synonymous SNV S193S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.976 155041 chrX 118771086 118771086 C T rs746109010 SEPTIN6 Nonsynonymous SNV R287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 155042 chr3 9959640 9959640 T C rs138985119 IL17RC Nonsynonymous SNV V54A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 155043 chr17 38027725 38027725 A C rs148741007 ZPBP2 Synonymous SNV R63R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.01 155044 chr7 4843180 4843180 G A rs772984915 RADIL Synonymous SNV P832P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.054 155045 chrX 135404996 135404996 A C ADGRG4 Nonsynonymous SNV S44R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.1 155046 chr7 4856076 4856076 C T rs115616029 RADIL Synonymous SNV P583P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 10.76 155047 chr4 100057775 100057775 G A ADH4 Nonsynonymous SNV P142S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 155048 chr7 50514204 50514204 T C rs79851593 FIGNL1 Nonsynonymous SNV Y261C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.635 155049 chr7 50514650 50514650 C A rs112666980 FIGNL1 Star tloss M112I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.27 155050 chr19 44171803 44171803 C T rs773014615 PLAUR Synonymous SNV G32G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.35 155051 chrX 139586623 139586623 C T rs138530785 SOX3 Synonymous SNV K201K 0.002 0.005 0 4 2 2 0.01 0 0 1 0 2 Benign 13.68 155052 chr7 51096830 51096830 C G rs112568753 COBL Nonsynonymous SNV A655P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.221 155053 chr6 96054043 96054043 T C rs113469629 MANEA Nonsynonymous SNV I384T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.082 155054 chr7 51258566 51258566 G A rs76440598 COBL Synonymous SNV Y222Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 8.475 155055 chr7 102108585 102108585 C T rs750100070 LRWD1 Nonsynonymous SNV P100L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.73 155056 chr5 1416275 1416275 G A rs369950427 SLC6A3 Synonymous SNV G323G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Likely benign 11.41 155057 chrX 153697246 153697246 G A rs140777906 PLXNA3 Synonymous SNV T1456T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.874 155058 chrX 15544185 15544185 C T rs35353387 BMX Nonsynonymous SNV S283L 0.005 0.01 0 2 6 4 0.005 0 1 1 0 0 21.6 155059 chr19 10260183 10260183 G T DNMT1 Synonymous SNV I828I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.202 155060 chr6 107956279 107956279 - GCCGCC rs758711646 SOBP P751_A752insPP 0.002 0.003 0 0 2 1 0 0 0 0 0 0 155061 chr7 1097555 1097555 G A rs61997249 GPR146 Nonsynonymous SNV R135Q 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 24.7 155062 chr17 40696181 40696181 G A rs114687267 NAGLU Synonymous SNV P719P 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.959 155063 chr7 6634070 6634070 C T rs146246310 C7orf26 Nonsynonymous SNV T121M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 27.6 155064 chr4 123336572 123336572 G A rs546801281 ADAD1 Nonsynonymous SNV A419T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 155065 chrX 2864142 2864142 G A rs184888777 ARSL Synonymous SNV S242S 0.002 0.003 0 5 2 1 0.013 0 0 0 0 2 3.082 155066 chr7 117234995 117234995 T G rs200735475 CFTR Nonsynonymous SNV F834L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 14.19 155067 chr19 11210921 11210921 C T rs72658855 LDLR Synonymous SNV N30N 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.14 155068 chr19 46417883 46417883 G A rs766542186 NANOS2 Synonymous SNV I23I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.568 155069 chr6 114181731 114181731 C T rs149796810 MARCKS Synonymous SNV A325A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.759 155070 chr4 141054219 141054219 G A rs116599841 LOC101927516 0 0 0.007 0 0 0 0 2 0 0 0 0 10.56 155071 chr4 141055397 141055397 C T rs950677427 LOC101927516 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 155072 chr17 42847395 42847395 G A rs56266867 ADAM11 Synonymous SNV E120E 0 0 0 3 0 0 0.008 0 0 0 0 0 10.26 155073 chr6 116575027 116575027 T C rs983913017 TSPYL4 Nonsynonymous SNV T49A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 155074 chr7 77326087 77326087 C T rs1004045312 RSBN1L Nonsynonymous SNV R101W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 155075 chr4 144116930 144116930 C G rs762919509 USP38 Nonsynonymous SNV L294V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 155076 chr19 12874208 12874208 G A rs35614758 HOOK2 Nonsynonymous SNV A681V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.74 155077 chr7 77824247 77824247 C T rs145722885 MAGI2 Nonsynonymous SNV R738Q 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 Benign/Likely benign 24 155078 chr4 146824009 146824009 G A rs1043208848 ZNF827 Synonymous SNV L134L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.619 155079 chr19 13041054 13041054 C T rs34795408 FARSA Synonymous SNV R162R 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 13.63 155080 chr6 11778902 11778902 C T rs758519538 ADTRP Nonsynonymous SNV E31K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.64 155081 chr19 14139176 14139176 C T rs758973862 RLN3 Stop gain R54X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 155082 chr6 123658776 123658776 G T rs6569336 TRDN Nonsynonymous SNV L470M 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 Benign/Likely benign 15.88 155083 chr19 14991752 14991752 C T rs201404848 OR7A17 Nonsynonymous SNV R139Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 155084 chr7 89891330 89891330 C A rs544953762 CFAP69 Nonsynonymous SNV R106S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.282 155085 chr6 126334233 126334233 G A rs148282364 TRMT11 Synonymous SNV P177P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 155086 chr7 89969769 89969769 G A rs556567328 LOC101927446 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.59 155087 chr6 128307018 128307018 C T rs61757811 PTPRK Synonymous SNV R1032R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.2 155088 chr6 128404875 128404875 G A rs11962559 PTPRK Synonymous SNV I391I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.64 155089 chr6 129921793 129921793 C G rs34803612 ARHGAP18 Synonymous SNV L522L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 155090 chr7 91793464 91793464 T C rs180706754 LRRD1 Nonsynonymous SNV I351M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.737 155091 chr17 48545702 48545704 TTG - rs373246287 CHAD N157del 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 155092 chr4 159627845 159627845 T C rs77484245 ETFDH Synonymous SNV D450D 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 5.05 155093 chrX 80064802 80064802 C T rs139071237 BRWD3 Synonymous SNV E11E 0.004 0.01 0 2 5 4 0.005 0 1 2 0 1 Benign/Likely benign 1.305 155094 chr4 162841799 162841799 T C rs148108933 FSTL5 Nonsynonymous SNV M55V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.07 155095 chr7 1028438 1028438 T C rs376719334 CYP2W1 Nonsynonymous SNV C485R 0.003 0.008 0 0 3 3 0 0 0 0 0 0 15.67 155096 chrX 9707600 9707600 C T rs138809166 GPR143 Nonsynonymous SNV E349K 0.009 0.003 0 4 11 1 0.01 0 3 0 0 1 Benign 8.043 155097 chr7 97921987 97921988 GA - rs373723493 BRI3 R95Sfs*31 0.001 0.003 0 0 1 1 0 0 0 0 0 0 155098 chr6 137322854 137322854 T C rs367552524 IL20RA Synonymous SNV S390S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.098 155099 chr17 53076765 53076765 T C rs371974451 STXBP4 Synonymous SNV G80G 0 0.003 0 4 0 1 0.01 0 0 0 0 0 2.117 155100 chr7 99489897 99489897 G A rs760515312 TRIM4 Synonymous SNV D438D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.018 155101 chr5 170819974 170819974 T C NPM1 Synonymous SNV D74D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.651 155102 chr19 50357889 50357889 C T rs147943327 MIR4749 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 7.646 155103 chr6 144263551 144263551 C A rs763488544 PLAGL1 Synonymous SNV V134V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.32 155104 chr7 139657540 139657540 C T rs140774405 TBXAS1 Nonsynonymous SNV R205W 0.007 0 0 4 8 0 0.01 0 0 0 0 0 35 155105 chr5 175959148 175959148 G A rs371670938 RNF44 Nonsynonymous SNV R52C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 155106 chr4 177100658 177100658 T C WDR17 Synonymous SNV N1260N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.249 155107 chr19 50826824 50826824 G A KCNC3 Synonymous SNV F386F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.79 155108 chr17 59483090 59483090 G A rs1043451901 TBX2 Nonsynonymous SNV G527R 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 23 155109 chr19 50919939 50919939 G A rs757190258 POLD1 Nonsynonymous SNV R1035H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.6 155110 chr10 103534571 103534571 G C rs778210715 FGF8 Synonymous SNV L56L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.985 155111 chr17 59761053 59761053 A G rs757427210 BRIP1 Synonymous SNV N1118N 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.514 155112 chr17 60129965 60129965 T C rs201817037 MED13 Nonsynonymous SNV N135D 0 0 0 2 0 0 0.005 0 0 0 0 0 23 155113 chr6 149918291 149918291 T C rs747830834 KATNA1 Synonymous SNV L395L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.203 155114 chr17 60813361 60813361 C A rs772070614 MARCHF10 Nonsynonymous SNV G623V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 155115 chr17 61497467 61497467 - GCAGCAGCC TANC2 P1381_P1382insQQP 0 0 0 2 0 0 0.005 0 0 0 0 0 155116 chr19 17650529 17650529 G C NIBAN3 Nonsynonymous SNV D69H 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24.6 155117 chr7 6693342 6693342 G A rs527903972 ZNF316 Synonymous SNV A705A 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 0.151 155118 chr19 52538028 52538028 G A rs150294601 ZNF432 Nonsynonymous SNV R302C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 155119 chr5 2752824 2752824 G C rs112684585 C5orf38 Nonsynonymous SNV G97R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 155120 chr8 124195180 124195180 C A rs144876692 FAM83A Nonsynonymous SNV D28E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 17.51 155121 chr7 139717500 139717500 G A rs41311778 TBXAS1 Nonsynonymous SNV R404Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 8.064 155122 chr7 157023982 157023982 T C rs550084774 UBE3C Synonymous SNV F814F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.265 155123 chr7 157333411 157333411 C A rs61757813 PTPRN2 Nonsynonymous SNV Q977H 0.006 0.008 0.003 3 7 3 0.008 1 0 0 0 0 Benign 29.9 155124 chr5 35968179 35968179 G T rs142049781 UGT3A1 Nonsynonymous SNV H85N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 155125 chr7 141921794 141921794 G T MGAM2 Nonsynonymous SNV V2495L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 155126 chr5 37227827 37227827 G A CPLANE1 Nonsynonymous SNV A405V 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 23.9 155127 chr7 142574967 142574967 G A rs141260669 TRPV6 Nonsynonymous SNV R179C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 155128 chr6 168311998 168311998 T C rs767175005 AFDN Synonymous SNV Y606Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.8 155129 chr4 47625711 47625711 C T rs141053134 CORIN Nonsynonymous SNV R702Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 155130 chr19 35757617 35757617 G A LSR Nonsynonymous SNV D270N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 155131 chr19 36277664 36277664 C T rs747703373 ARHGAP33 Synonymous SNV P628P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.8 155132 chr19 36339295 36339295 A G rs34320609 NPHS1 Nonsynonymous SNV L392P 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 Benign/Likely benign 9.163 155133 chr6 17764507 17764507 G A rs371892687 KIF13A Nonsynonymous SNV T1703I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 155134 chr19 36387904 36387904 C A NFKBID Synonymous SNV V36V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.093 155135 chr7 2649685 2649685 T C rs6955129 IQCE Synonymous SNV S594S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.049 155136 chr5 5462181 5462181 A G rs201403276 ICE1 Nonsynonymous SNV T912A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 155137 chr17 76498533 76498533 G A rs759941690 DNAH17-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.198 155138 chr7 2968291 2968291 G A rs41454944 CARD11 Synonymous SNV A565A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.38 155139 chr7 2974165 2974165 C T rs41396348 CARD11 Synonymous SNV S480S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 10.69 155140 chr8 144918318 144918318 G A rs148005378 NRBP2 Synonymous SNV S432S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.67 155141 chr8 144940963 144940963 C T rs114125680 EPPK1 Synonymous SNV T2153T 0.003 0 0 4 3 0 0.01 0 0 0 0 0 12.9 155142 chr17 76810567 76810567 A G rs142162440 USP36 Nonsynonymous SNV M364T 0 0 0 3 0 0 0.008 0 0 0 0 0 16.24 155143 chr7 30728880 30728880 C T rs190833539 CRHR2 Nonsynonymous SNV M37I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.919 155144 chr6 26056156 26056156 G C rs199882747 H1-2 Synonymous SNV T167T 0.004 0.01 0.007 2 5 4 0.005 2 0 0 0 0 0.647 155145 chr19 38103617 38103617 G T ZNF540 Nonsynonymous SNV R447L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.232 155146 chr17 77984519 77984519 C T rs144709479 TBC1D16 Synonymous SNV L73L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.91 155147 chr7 151841819 151841819 A G rs779618428 KMT2C Synonymous SNV Y4774Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.063 155148 chr4 69962449 69962449 G T rs12233719 UGT2B7 Nonsynonymous SNV A71S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 drug response 0.003 155149 chr19 38901527 38901527 G A rs200790875 RASGRP4 Nonsynonymous SNV T466M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.041 155150 chr5 70751872 70751872 C G BDP1 Synonymous SNV V56V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.195 155151 chr7 156799179 156799179 C A MNX1 Nonsynonymous SNV E70D 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 155152 chr6 27860733 27860733 C T rs144120640 H2AC17 Synonymous SNV E65E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 155153 chr4 73987465 73987465 T C rs115855277 ANKRD17 Synonymous SNV L917L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 8.49 155154 chr8 113304809 113304809 G A rs139968307 CSMD3 Synonymous SNV C2715C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.579 155155 chr8 145749600 145749600 C T rs149062375 LRRC24 Synonymous SNV A167A 0.006 0.01 0.01 2 7 4 0.005 3 0 0 0 0 17.24 155156 chr19 40886742 40886742 C T rs56365273 HIPK4 Nonsynonymous SNV A386T 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 9.809 155157 chr19 40900180 40900182 TCC - rs139624657 PRX E1361del 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 155158 chr19 40903719 40903719 C T rs371243093 PRX Synonymous SNV P180P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 9.719 155159 chr19 40903788 40903788 C T rs4803335 PRX Synonymous SNV E157E 0.006 0.005 0.007 2 7 2 0.005 2 0 0 0 0 Benign 7.362 155160 chr19 40928968 40928968 A G rs4150991 SERTAD1 Synonymous SNV T162T 0.006 0.005 0.007 4 7 2 0.01 2 0 0 0 0 3.397 155161 chr17 79865694 79865694 G A PCYT2 Synonymous SNV L95L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.03 155162 chr19 41086248 41086248 G A rs77142263 SHKBP1 Nonsynonymous SNV R140Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.8 155163 chr7 44530187 44530187 C A rs146329778 NUDCD3 Nonsynonymous SNV A5S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.012 155164 chr19 58265504 58265504 G A rs370265723 ZNF776 Nonsynonymous SNV V336I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.16 155165 chr19 42753743 42753743 G A ERF Nonsynonymous SNV S99L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.7 155166 chr18 907762 907762 C T rs78094828 ADCYAP1 Synonymous SNV A71A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 18.36 155167 chr7 27196116 27196116 C T rs78410337 HOXA7 Nonsynonymous SNV G17R 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 29.3 155168 chr19 44223375 44223375 G C rs767453078 IRGC Nonsynonymous SNV R222P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.17 155169 chr19 44223462 44223462 T C rs906394054 IRGC Nonsynonymous SNV I251T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.8 155170 chr4 84403360 84403360 T C rs201948472 ABRAXAS1 Nonsynonymous SNV K42R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.18 155171 chr7 30671921 30671921 C T rs201927627 GARS1 Synonymous SNV I600I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 18.88 155172 chr7 30830902 30830902 C T rs17159453 MINDY4 Nonsynonymous SNV S262L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.393 155173 chr4 945017 945017 A G rs200834686 TMEM175 Nonsynonymous SNV T23A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.14 155174 chr6 42025181 42025181 G A rs200166840 TAF8 Nonsynonymous SNV R140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 155175 chr6 42196212 42196212 A G rs7744694 TRERF1 Synonymous SNV D1178D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.374 155176 chr6 42858227 42858227 G A rs61747887 C6orf226 Synonymous SNV G100G 0.008 0.01 0.01 3 9 4 0.008 3 0 0 0 0 3.282 155177 chr7 4185538 4185538 C T rs142119220 SDK1 Synonymous SNV T1471T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.764 155178 chr7 42957208 42957208 T C rs778836202 PSMA2 Nonsynonymous SNV T224A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 155179 chr4 99978930 99978930 T A rs199849816 METAP1 Nonsynonymous SNV S320T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 155180 chr6 43221341 43221341 G A rs55666504 TTBK1 Synonymous SNV P122P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 155181 chr5 102894942 102894955 TGGCTTTCTTTAGC - rs761444350 NUDT12 A123Sfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 155182 chr18 19751342 19751342 G C rs772338637 GATA6 Synonymous SNV L79L 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 9.206 155183 chr8 144358950 144358950 C T rs199779517 GLI4 Synonymous SNV H369H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.04 155184 chr6 43306602 43306602 T C rs148650984 ZNF318 Nonsynonymous SNV I1712V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 155185 chr6 43538726 43538726 T C rs757023344 XPO5 Synonymous SNV T102T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.606 155186 chr6 11105041 11105041 T C ERVFRD-1 Nonsynonymous SNV H168R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.552 155187 chr6 111527803 111527803 T C rs149374548 SLC16A10 Synonymous SNV H317H 0.004 0 0 0 5 0 0 0 0 0 0 0 2.387 155188 chr6 112382393 112382393 G A rs147337485 CCN6 Nonsynonymous SNV G101E 0.004 0 0.017 1 5 0 0.003 5 0 0 0 0 Likely benign 27.5 155189 chr8 37555190 37555190 C G rs573538977 ZNF703 Synonymous SNV A257A 0.003 0 0 0 4 0 0 0 0 0 0 0 5.97 155190 chr10 50678884 50678884 T G rs139007661 ERCC6 Nonsynonymous SNV Q1041P 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.36 155191 chr10 50690906 50690906 G A rs61760163 ERCC6 Nonsynonymous SNV R666C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 155192 chr5 118469629 118469629 G A rs376794368 DMXL1 Synonymous SNV E670E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 155193 chr6 118635300 118635300 G A rs138680595 SLC35F1 Nonsynonymous SNV R371H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 155194 chr8 43033305 43033305 A G HGSNAT Nonsynonymous SNV I26V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.13 155195 chr8 53589103 53589103 C T RB1CC1 Nonsynonymous SNV C133Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 155196 chr7 7676651 7676651 C G rs773400658 RPA3 Nonsynonymous SNV G116R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 155197 chr7 80302093 80302093 G T rs146027667 CD36 Nonsynonymous SNV G339V 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Uncertain significance 32 155198 chr10 61832105 61832105 C T rs139022925 ANK3 Nonsynonymous SNV G2845E 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Uncertain significance 25.5 155199 chr5 132051591 132051591 A G rs149469652 KIF3A Synonymous SNV Y329Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.52 155200 chr5 132083394 132083394 G A rs540275476 CCNI2 Synonymous SNV A69A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.02 155201 chr5 132084106 132084106 T C rs116622403 CCNI2 Nonsynonymous SNV F166S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.4 155202 chr7 82785157 82785157 G A PCLO Nonsynonymous SNV T267I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.955 155203 chr5 132159579 132159579 C T rs139555657 SHROOM1 Nonsynonymous SNV E592K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 155204 chr20 18446005 18446006 TC - rs367638464 DZANK1 K9Nfs*23 0.001 0 0 2 1 0 0.005 0 0 0 0 1 155205 chr18 47796410 47796410 G C rs374142220 MBD1 Nonsynonymous SNV L542V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.049 155206 chr8 145773235 145773235 G C rs761493026 ARHGAP39 Nonsynonymous SNV A412G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 155207 chr6 132045180 132045180 A G rs58038770 ENPP3 Nonsynonymous SNV S583G 0.003 0.003 0.014 3 3 1 0.008 4 0 0 0 0 Benign 0.008 155208 chr18 48190466 48190466 C T rs763775905 MAPK4 Synonymous SNV V46V 0 0 0 3 0 0 0.008 0 0 0 0 0 10.55 155209 chr8 80677623 80677623 G A rs907363690 HEY1 Nonsynonymous SNV P149S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.81 155210 chr6 135639665 135639665 G A rs201148693 AHI1 Nonsynonymous SNV P1140S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 155211 chr19 49929831 49929831 T G GFY Synonymous SNV A48A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 5.589 155212 chr18 52946799 52946799 C G TCF4 Nonsynonymous SNV S53T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 155213 chr7 90895062 90895062 C G FZD1 Nonsynonymous SNV H289Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.27 155214 chr6 65622486 65622486 T C EYS Synonymous SNV Q844Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 155215 chr6 138734130 138734130 G A rs142649597 HEBP2 Nonsynonymous SNV G189D 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 28.4 155216 chr5 137525322 137525322 A G rs2231480 CDC23 Synonymous SNV D541D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.827 155217 chr5 137681258 137681258 G A rs201755627 FAM53C Nonsynonymous SNV R294Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 155218 chr6 143381810 143381810 C G rs377163606 AIG1 Nonsynonymous SNV T10R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 155219 chr6 143605261 143605261 G A rs11556576 AIG1 Synonymous SNV L104L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.038 155220 chr6 144774996 144774996 A G rs748063035 UTRN Nonsynonymous SNV M759V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 155221 chr7 94059651 94059651 C G rs144133431 COL1A2 Nonsynonymous SNV I1349M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.6 155222 chr6 144999592 144999592 C T rs150099766 UTRN Synonymous SNV D2510D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 155223 chr6 145103133 145103133 G A rs141091589 UTRN Nonsynonymous SNV S2903N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 155224 chr10 72972793 72972793 C G rs374572217 UNC5B Synonymous SNV L17L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.37 155225 chr8 95658495 95658495 G A rs73263258 ESRP1 Nonsynonymous SNV A159T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 6.131 155226 chr7 94268687 94268687 A G rs966209988 SGCE Synonymous SNV I61I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.96 155227 chr18 56203682 56203682 G T rs151102442 ALPK2 Nonsynonymous SNV S1246Y 0 0 0.007 3 0 0 0.008 2 0 0 0 0 18.16 155228 chr5 139231275 139231275 G A rs61730781 NRG2 Synonymous SNV A496A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.38 155229 chr8 95869046 95869046 G A rs150183548 INTS8 Synonymous SNV E598E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.61 155230 chr7 94947635 94947635 C T rs149100710 PON1 Nonsynonymous SNV E49K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.5 155231 chr6 149395199 149395199 G A rs368381676 UST Nonsynonymous SNV D390N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 155232 chr6 74496956 74496956 G T CD109 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 155233 chr8 21953872 21953872 C T FAM160B2 Nonsynonymous SNV T50I 0.003 0 0 0 4 0 0 0 0 0 0 0 28.9 155234 chr9 100455972 100455977 TCTTCC - XPA E83_E84del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 155235 chr10 75551731 75551731 G A rs544312492 ZSWIM8 Synonymous SNV A478A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.174 155236 chr7 73254805 73254805 G A rs573300287 METTL27 Synonymous SNV P109P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.307 155237 chr8 22106651 22106651 T G rs78038872 POLR3D Synonymous SNV S250S 0.009 0 0.003 2 10 0 0.005 1 0 0 0 0 0.543 155238 chr10 78872140 78872140 G A rs79713097 KCNMA1 Synonymous SNV A261A 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Benign/Likely benign 15.26 155239 chr18 61390227 61390227 A G rs200847682 SERPINB11 0 0 0 3 0 0 0.008 0 0 0 0 0 23 155240 chr5 140807224 140807224 A C rs34752215 PCDHGB8P 0 0 0.01 0 0 0 0 3 0 0 0 0 0.048 155241 chr10 84744970 84744970 C T rs577470872 NRG3 Nonsynonymous SNV S567L 0.007 0 0.003 0 8 0 0 1 0 0 0 0 17.02 155242 chr6 15487738 15487738 C G rs755892589 JARID2 Nonsynonymous SNV P119A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.861 155243 chr7 82785152 82785152 G C PCLO Nonsynonymous SNV H269D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.64 155244 chr5 1432652 1432652 G A rs756042082 SLC6A3 Nonsynonymous SNV P194S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 155245 chr20 42935701 42935701 G A rs147373369 FITM2 Nonsynonymous SNV T118M 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 27.4 155246 chr6 90471466 90471466 C G rs137875343 MDN1 Synonymous SNV G786G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.976 155247 chr7 87160645 87160645 G A rs9282563 ABCB1 Synonymous SNV L884L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.38 155248 chr6 96651198 96651198 C A rs139267189 FUT9 Nonsynonymous SNV T56N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.796 155249 chr6 159029417 159029417 G A TMEM181 Synonymous SNV L379L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 155250 chr10 91099285 91099285 A G IFIT3 Synonymous SNV Q291Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.013 155251 chr5 148620322 148620322 C A rs143929547 ABLIM3 Nonsynonymous SNV H430N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 155252 chr18 76752235 76752235 G A rs774028482 SALL3 Nonsynonymous SNV V82M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 15.42 155253 chr8 2966265 2966265 C T CSMD1 Nonsynonymous SNV G2205D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.5 155254 chr10 95326591 95326591 G A rs139357642 FFAR4 Synonymous SNV V38V 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 5.015 155255 chr8 3165225 3165225 C T rs747667934 CSMD1 Synonymous SNV K1314K 0.007 0 0 0 8 0 0 0 0 0 0 0 12.64 155256 chr5 150028685 150028685 G A rs141856687 SYNPO Nonsynonymous SNV R283Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 155257 chr7 98445808 98445808 G A TMEM130 Synonymous SNV V279V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 155258 chr10 97728602 97728602 T G rs181236559 CC2D2B Nonsynonymous SNV F530V 0.01 0.003 0.003 1 12 1 0.003 1 0 0 0 0 23.8 155259 chr9 119461867 119461867 C A TRIM32 Nonsynonymous SNV L616I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 155260 chr8 103311747 103311747 G A rs548926233 UBR5 Synonymous SNV P1045P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.21 155261 chr19 55044295 55044295 C T rs776938727 KIR3DX1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 155262 chr6 170871055 170871073 GCAGCAGCAGCAGCAGCAG - rs747945026 TBP Q57Hfs*61 0.004 0.01 0.003 1 5 4 0.003 1 0 0 0 0 155263 chr5 168189648 168189648 G A rs150725100 SLIT3 Synonymous SNV D502D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 155264 chr5 172382133 172382136 TTTT - rs757322235 LOC100268168 0 0 0.01 0 0 0 0 3 0 0 0 0 155265 chr8 80677457 80677457 T C rs368116797 HEY1 Nonsynonymous SNV Y204C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 155266 chr5 172385569 172385569 T C rs7731785 LOC100268168 0 0 0.017 0 0 0 0 5 0 0 0 0 5.379 155267 chr5 172385572 172385572 C T rs7711780 LOC100268168 0 0 0.007 0 0 0 0 2 0 0 0 0 8.497 155268 chr5 175582285 175582285 G A rs145983327 LOC643201 0 0 0.01 0 0 0 0 3 0 0 1 0 0.739 155269 chr5 175782698 175782698 C T rs761248941 KIAA1191 Nonsynonymous SNV R9H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 155270 chr8 120744313 120744313 G A rs754775582 TAF2 Nonsynonymous SNV H1151Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 155271 chr8 95676934 95676934 G C ESRP1 Nonsynonymous SNV M218I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 155272 chr19 56180938 56180938 C T rs142451376 U2AF2 Synonymous SNV D387D 0.003 0.008 0 0 4 3 0 0 0 0 0 0 10.94 155273 chr19 3770939 3770939 G A RAX2 Nonsynonymous SNV R125W 0.002 0 0 3 2 0 0.008 0 0 0 0 0 33 155274 chr5 179023274 179023274 A G rs78750408 LOC101928445 0 0 0.031 0 0 0 0 9 0 0 1 0 1.289 155275 chr19 56388488 56388488 G A rs145598476 NLRP4 Synonymous SNV L884L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.824 155276 chr19 56481949 56481949 T A NLRP8 Nonsynonymous SNV D807E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.083 155277 chr9 100373956 100373956 T C rs779224859 TSTD2 Nonsynonymous SNV N210S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 25.8 155278 chr9 131689474 131689474 A G PHYHD1 Nonsynonymous SNV Q64R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.955 155279 chr9 131760897 131760897 G C NUP188 Nonsynonymous SNV W1170C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 33 155280 chr7 101259513 101259513 C T rs150224436 MYL10 Nonsynonymous SNV V174I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.202 155281 chr19 56719949 56719949 G A rs189041545 ZSCAN5C Nonsynonymous SNV A291T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.812 155282 chr5 180661480 180661480 G A rs371769219 TRIM41 Nonsynonymous SNV R533H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 155283 chr19 4511592 4511592 C T PLIN4 Nonsynonymous SNV G794S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.09 155284 chr7 104377180 104377180 A G rs201996804 LHFPL3 Synonymous SNV V168V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.382 155285 chr5 32090028 32090028 G A rs141573776 PDZD2 Nonsynonymous SNV M2158I 0 0.003 0.01 0 0 1 0 3 0 0 0 0 0.003 155286 chr5 32239166 32239166 T C rs145308792 MTMR12 Nonsynonymous SNV M429V 0.002 0.003 0.02 0 2 1 0 6 0 0 1 0 12.5 155287 chr7 107432363 107432363 G C rs368890058 SLC26A3 Synonymous SNV V98V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.668 155288 chr6 36645747 36645747 A G DINOL 0.001 0 0 0 1 0 0 0 0 0 0 0 3.16 155289 chr11 106810564 106810564 T C rs138593429 GUCY1A2 Synonymous SNV L276L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.093 155290 chr19 5921267 5921267 C T RANBP3 Synonymous SNV L352L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.46 155291 chr6 38976652 38976652 G A DNAH8 Nonsynonymous SNV S4209N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 155292 chr19 6686216 6686216 T C C3 Synonymous SNV L1243L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.078 155293 chr5 40854115 40854115 C T rs150284512 CARD6 Nonsynonymous SNV P894L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.672 155294 chr6 39865007 39865007 T C rs61748650 DAAM2 Nonsynonymous SNV I856T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 155295 chr7 123672449 123672449 G T TMEM229A Synonymous SNV G203G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 155296 chr5 43506235 43506235 G A rs113646274 C5orf34 Nonsynonymous SNV R183C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.998 155297 chr9 136501728 136501728 C T rs77273740 DBH Nonsynonymous SNV R79W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 23.8 155298 chr7 127235677 127235677 G A rs768120886 FSCN3 Nonsynonymous SNV R154H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 155299 chr7 129919343 129919343 C T rs17591 CPA2 Synonymous SNV H276H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.14 155300 chr5 56207307 56207307 G T rs149334074 SETD9 Nonsynonymous SNV G137V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.8 155301 chr9 120474841 120474841 C A rs5030711 TLR4 Synonymous SNV P145P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.72 155302 chr21 42754440 42754440 C T rs145539486 MX2 Synonymous SNV P227P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 14.16 155303 chr5 64103569 64103569 A G rs767002359 CWC27 Nonsynonymous SNV N361S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.144 155304 chr8 144997578 144997578 G A rs782289515 PLEC Synonymous SNV F2159F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.736 155305 chr6 46593219 46593219 G A rs937297589 CYP39A1 Synonymous SNV V117V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.37 155306 chr8 21977633 21977633 C A HR Nonsynonymous SNV D944Y 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26 155307 chr5 66479859 66479859 A G rs143797212 CD180 Nonsynonymous SNV L271P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 155308 chr9 125281999 125281999 C T rs145918200 OR1J4 Nonsynonymous SNV L194F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.641 155309 chr8 145154676 145154676 C T rs113734637 SHARPIN Nonsynonymous SNV V197I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 155310 chr6 49667569 49667569 C A rs114974767 CRISP2 Nonsynonymous SNV R73S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 155311 chr6 49712063 49712063 A G rs74393864 CRISP3 Synonymous SNV H6H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.101 155312 chr21 44324006 44324006 C A NDUFV3 Nonsynonymous SNV T295K 0.006 0 0 1 7 0 0.003 0 0 0 0 0 12.72 155313 chr6 49928111 49928111 C A rs146020038 DEFB114 Nonsynonymous SNV R35L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 155314 chr8 24339794 24339794 G A ADAM7 Nonsynonymous SNV R282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 155315 chr20 17479609 17479609 A G rs147718368 BFSP1 Nonsynonymous SNV I146T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 no interpretation for the single variant 25.8 155316 chr8 145737691 145737691 T C rs754479836 RECQL4 Synonymous SNV T1024T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.8 155317 chr9 126136934 126136934 G A rs201603014 CRB2 Nonsynonymous SNV A1156T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 23.7 155318 chr9 129594920 129594920 C T rs34789090 ZBTB43 Synonymous SNV F44F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.888 155319 chr6 64394300 64394300 T A PHF3 Nonsynonymous SNV L138H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.715 155320 chr8 2944690 2944690 T C rs1036910347 CSMD1 Nonsynonymous SNV H2468R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 155321 chr11 124805822 124805822 C T HEPACAM Synonymous SNV Q27Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.604 155322 chr20 20270967 20270967 C A CFAP61 Nonsynonymous SNV H1050N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 16.37 155323 chr5 79646840 79646840 T - rs34240292 CRSP8P 0 0 0.007 0 0 0 0 2 0 0 1 0 155324 chr7 148985870 148985870 G A rs534005181 LOC155060 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.897 155325 chr9 130670772 130670772 G A rs746812500 ST6GALNAC4 Nonsynonymous SNV P186S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 155326 chr7 149556520 149556520 C T rs199876228 ZNF862 Nonsynonymous SNV A376V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 155327 chr9 131117786 131117786 A T rs770726802 SLC27A4 Synonymous SNV T524T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 155328 chr9 131185443 131185443 G C rs757603080 CERCAM Nonsynonymous SNV E31D 0.003 0 0 0 3 0 0 0 0 0 0 0 10.74 155329 chr9 32418473 32418473 A G rs61753543 ACO1 Nonsynonymous SNV T208A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 155330 chr8 39626968 39626968 - AGTG rs536515860 ADAM2 Frameshift insertion V367Tfs*5 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 155331 chr9 32984657 32984657 A T rs141195622 APTX Nonsynonymous SNV L194M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.86 155332 chr9 131765214 131765214 C T rs17433024 NUP188 Nonsynonymous SNV A1419V 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 28.7 155333 chr7 150554538 150554538 G A rs529653297 AOC1 Nonsynonymous SNV R327Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 155334 chr22 19168288 19168288 C T rs5748024 CLTCL1 Nonsynonymous SNV R1563H 0.015 0.008 0.007 7 18 3 0.018 2 0 0 0 0 12.74 155335 chr22 19170956 19170956 C T rs2073738 CLTCL1 Nonsynonymous SNV V1535M 0.015 0.008 0.007 7 18 3 0.018 2 0 0 0 0 2.427 155336 chr8 22009053 22009053 G A rs35142808 LGI3 Synonymous SNV L260L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.392 155337 chr22 19230365 19230365 T C rs5746697 CLTCL1 Nonsynonymous SNV K205R 0.016 0.008 0.007 7 19 3 0.018 2 0 0 0 0 4.915 155338 chr22 19241488 19241488 C T rs190950286 CLTCL1 Synonymous SNV S171S 0.012 0.008 0.007 6 14 3 0.015 2 0 0 0 0 Benign 14.39 155339 chr22 19263214 19263214 G A rs3747059 CLTCL1 Nonsynonymous SNV P61L 0.016 0.008 0.007 7 19 3 0.018 2 0 0 0 0 12.31 155340 chr9 132897395 132897395 G A rs139103951 GPR107 Nonsynonymous SNV V552M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 155341 chr6 7888950 7888950 G A rs140645336 TXNDC5 Synonymous SNV P209P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.289 155342 chr19 10672387 10672387 T C KRI1 Synonymous SNV T148T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 155343 chr19 11319683 11319683 G A rs190830362 DOCK6 Synonymous SNV A1616A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.75 155344 chr8 70585223 70585223 G A rs150778647 SLCO5A1 Synonymous SNV L755L 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 5.051 155345 chr7 155755577 155755577 G A rs199987379 LOC389602 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.346 155346 chr9 134363406 134363406 G A PRRC2B Nonsynonymous SNV A2050T 0.002 0 0 0 2 0 0 0 0 0 0 0 23 155347 chr11 1471882 1471882 G A rs774027450 BRSK2 Synonymous SNV T451T 0.006 0 0 0 7 0 0 0 0 0 0 0 14.52 155348 chr9 134952907 134952907 C T rs200833648 MED27 Synonymous SNV G90G 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 15.34 155349 chr19 12799075 12799075 C T rs184571217 GNG14 Synonymous SNV A71A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.05 155350 chr20 36982688 36982688 C A rs2232585 LBP Nonsynonymous SNV L125I 0.009 0.008 0 0 10 3 0 0 0 0 0 0 Benign 20.6 155351 chr19 12969456 12969456 C T rs759623718 MAST1 Synonymous SNV R423R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.02 155352 chr8 79710374 79710374 C T IL7 Nonsynonymous SNV C27Y 0.004 0 0 1 5 0 0.003 0 0 0 0 0 27.9 155353 chr19 13059503 13059503 C T rs150788485 RAD23A Nonsynonymous SNV T159M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 22.3 155354 chr19 13084333 13084333 G A rs45513495 DAND5 Nonsynonymous SNV R152H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.68 155355 chr8 27373915 27373915 G A rs749909631 EPHX2 Nonsynonymous SNV E238K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 155356 chr9 137703346 137703346 C T rs370349155 COL5A1 Synonymous SNV D1197D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.9 155357 chr6 111665248 111665248 - A rs565415842 REV3L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 155358 chr7 100159897 100159897 C T rs139318752 AGFG2 Nonsynonymous SNV T298I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 155359 chr6 111919361 111919361 G A rs174397 TRAF3IP2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 2.423 155360 chr20 47886633 47886633 T C ZNFX1 Synonymous SNV R572R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 155361 chr19 15364539 15364539 G A rs563115748 BRD4 Synonymous SNV H738H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 3.919 155362 chr9 139636355 139636355 G A rs534635566 LCN10 Nonsynonymous SNV R79C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 155363 chr20 54974043 54974043 C T rs139172063 CSTF1 Synonymous SNV S222S 0.001 0.005 0.014 0 1 2 0 4 0 0 0 0 12.66 155364 chr7 27831828 27831828 A G rs35521804 TAX1BP1 Synonymous SNV L257L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.458 155365 chr9 102782939 102782939 C T rs768743894 ERP44 Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 155366 chr11 2191929 2191929 G A rs764689284 TH Synonymous SNV P58P 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Likely benign 0.227 155367 chr9 139752913 139752913 C T rs142748229 MAMDC4 Synonymous SNV G912G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.2 155368 chr9 139793243 139793243 C T rs147576715 TRAF2 Synonymous SNV P17P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.17 155369 chr9 104335719 104335719 A G rs75201933 GRIN3A Nonsynonymous SNV F1029L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 13.73 155370 chr9 139836912 139836912 C T rs145961335 FBXW5 Nonsynonymous SNV E228K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 31 155371 chr19 16590065 16590065 A T CALR3 Nonsynonymous SNV D344E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.2 155372 chr7 29954127 29954127 C T rs79136170 WIPF3 Nonsynonymous SNV R483W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 155373 chr7 30197131 30197131 G A rs61735934 MTURN Synonymous SNV A121A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.759 155374 chr7 30491919 30491919 C T rs5743342 NOD1 Nonsynonymous SNV D372N 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 Benign 0.022 155375 chr6 127517098 127517098 G A rs760990544 RSPO3 Synonymous SNV K255K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 155376 chr7 30890160 30890160 C T rs74684656 MINDY4 Synonymous SNV A512A 0.003 0.003 0.007 0 4 1 0 2 0 0 1 0 12.64 155377 chr9 95841842 95841842 T G SUSD3 Nonsynonymous SNV V109G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.77 155378 chr9 96859655 96859655 A G rs7866977 PTPDC1 Synonymous SNV Q269Q 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 0.712 155379 chr7 31912989 31912989 G A rs76290787 PDE1C Synonymous SNV S175S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.86 155380 chr9 97062646 97062646 G A rs779140159 ZNF169 Nonsynonymous SNV R78H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.36 155381 chr6 132172383 132172383 A G rs945595427 ENPP1 Nonsynonymous SNV I178V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.184 155382 chr7 32623480 32623480 C T rs75268098 AVL9 Synonymous SNV T636T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.37 155383 chr7 32909635 32909635 G A rs62000439 KBTBD2 Synonymous SNV T398T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.934 155384 chr9 98643511 98643511 G A rs61740729 ERCC6L2 Nonsynonymous SNV G136E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.719 155385 chr8 61121422 61121422 G T rs147080672 CA8 Synonymous SNV G233G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.073 155386 chr9 14662286 14662286 T C rs569986506 ZDHHC21 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 13.19 155387 chr7 37907421 37907421 G A rs139516225 NME8 Nonsynonymous SNV E247K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.32 155388 chr6 135318796 135318796 T C HBS1L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 155389 chr9 113244709 113244709 A G rs201656897 SVEP1 Nonsynonymous SNV I701T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.67 155390 chr6 138727145 138727145 C T rs371295316 HEBP2 Synonymous SNV Y103Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.654 155391 chr19 17615413 17615413 G T rs767891140 SLC27A1 Nonsynonymous SNV A645S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 155392 chr6 141004968 141004968 G A rs992696836 MIR4465 0 0 0.003 0 0 0 0 1 0 0 0 0 4.151 155393 chr8 67369339 67369339 C T rs202089911 ADHFE1 Nonsynonymous SNV A367V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 155394 chr7 4308360 4308360 C T rs11981816 SDK1 Nonsynonymous SNV P673L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.933 155395 chr8 68044264 68044264 G A rs201940935 CSPP1 Synonymous SNV P293P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.83 155396 chr6 143094604 143094604 G T HIVEP2 Synonymous SNV I424I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.086 155397 chr6 145124225 145124225 C T rs760532222 UTRN Nonsynonymous SNV S3100L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 155398 chr9 21384866 21384866 C T IFNA2 Nonsynonymous SNV E155K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 155399 chr8 72968161 72968161 T C rs147840558 MSC-AS1 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 1.475 155400 chr7 44560418 44560418 C T rs984503930 NPC1L1 Nonsynonymous SNV G1028S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 155401 chr7 44798918 44798918 T C ZMIZ2 Synonymous SNV Y284Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 155402 chr6 151055084 151055084 G C rs148388247 PLEKHG1 Synonymous SNV A148A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.781 155403 chr6 151293121 151293121 C T MTHFD1L Synonymous SNV N685N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 155404 chr7 100806974 100806974 T G VGF Nonsynonymous SNV E384A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 155405 chr22 38917681 38917681 A G rs753933840 DMC1 Synonymous SNV H240H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.729 155406 chr19 19737554 19737554 G A rs185072532 LPAR2 Synonymous SNV R180R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 9.033 155407 chr9 35555657 35555657 G A rs140042742 RUSC2 Nonsynonymous SNV R872Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 155408 chr6 154360569 154360569 C T rs17174638 OPRM1 Stop gain Q57X 0 0.003 0.007 0 0 1 0 2 0 0 0 0 25.3 155409 chr7 4829521 4829521 C T rs765366145 AP5Z1 Nonsynonymous SNV S433L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.93 155410 chr6 154411054 154411054 G T rs145700569 OPRM1 Synonymous SNV V28V 0 0 0.007 0 0 0 0 2 0 0 0 0 2.387 155411 chr6 154412385 154412385 G A rs1799975 OPRM1 Synonymous SNV T214T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.351 155412 chr22 40662013 40662013 C T rs189799786 TNRC6B Synonymous SNV Y593Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.428 155413 chr6 155575696 155575696 C T rs766878832 TIAM2 Nonsynonymous SNV S411L 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 155414 chr6 155718084 155718084 G A rs9480130 NOX3 Synonymous SNV G531G 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign 10.69 155415 chr19 23543078 23543078 C T rs117657695 ZNF91 Synonymous SNV K869K 0 0 0 3 0 0 0.008 0 0 0 0 0 9.669 155416 chr19 23836981 23836981 G A rs201045890 ZNF675 Stop gain R252X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 155417 chr11 47814467 47814467 C A rs61755075 NUP160 Synonymous SNV R1107R 0.004 0 0 0 5 0 0 0 0 0 0 0 19.04 155418 chr9 37516046 37516046 C T rs371163323 FBXO10 Nonsynonymous SNV G851S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 155419 chr6 160514167 160514167 G A rs150135073 LOC729603 0 0 0.003 0 0 0 0 1 0 0 0 0 3.107 155420 chr9 711869 711869 G A rs149775124 KANK1 Nonsynonymous SNV R210Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 155421 chrX 30254608 30254608 T C rs150723962 MAGEB3 Synonymous SNV N189N 0.004 0.008 0 0 5 3 0 0 2 1 0 0 0.009 155422 chrX 44703797 44703797 G A DUSP21 Nonsynonymous SNV R140H 0.003 0.003 0 0 4 1 0 0 2 0 0 0 33 155423 chr9 112219459 112219459 A T rs141057944 PTPN3 Nonsynonymous SNV L95I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.83 155424 chrX 47444361 47444361 C T rs145349279 TIMP1 Nonsynonymous SNV P50S 0.004 0.003 0.007 2 5 1 0.005 2 1 0 1 1 0.004 155425 chrX 47918491 47918491 A G rs781999560 ZNF630 Nonsynonymous SNV I447T 0.002 0.003 0 0 2 1 0 0 1 0 0 0 11.96 155426 chr21 42080444 42080444 A C rs188468461 DSCAM Synonymous SNV T99T 0.001 0.013 0 2 1 5 0.005 0 0 0 0 0 Benign 0.036 155427 chr6 168708270 168708270 C T rs191740169 DACT2 Nonsynonymous SNV G553R 0 0 0.007 0 0 0 0 2 0 0 0 0 6.471 155428 chr19 35940935 35940935 C T rs150111307 FFAR2 Nonsynonymous SNV R107C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 34 155429 chr7 128588045 128588045 T G rs2230117 IRF5 Synonymous SNV L248L 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 3.485 155430 chr7 7572457 7572457 G A rs767342248 COL28A1 Nonsynonymous SNV T17M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 155431 chr7 76062913 76062913 C T rs139729790 ZP3 Nonsynonymous SNV P221L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 155432 chr7 7646720 7646720 A G rs10280723 MIOS Synonymous SNV P771P 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 9.521 155433 chr19 36435588 36435588 C T rs371871382 LRFN3 Synonymous SNV F518F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.667 155434 chrX 66766371 66766371 C T rs768280979 AR Synonymous SNV G461G 0.003 0.013 0 0 3 5 0 0 1 2 0 0 Likely benign 11.95 155435 chr9 95009778 95009778 C T rs141783555 IARS1 Nonsynonymous SNV R863Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 155436 chr7 86556134 86556134 C T rs751388859 KIAA1324L Synonymous SNV P156P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 155437 chrX 99919896 99919896 C A rs150552508 SRPX2 Synonymous SNV R161R 0.003 0.003 0 0 4 1 0 0 2 0 0 0 Benign/Likely benign 19.73 155438 chr6 26508869 26508869 C T rs148996980 BTN1A1 Nonsynonymous SNV R350C 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 22.1 155439 chr10 100015474 100015474 G A rs149208138 LOXL4 Nonsynonymous SNV T484M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.59 155440 chr6 2679627 2679627 C G MYLK4 Nonsynonymous SNV E258D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 155441 chr7 89906610 89906610 G A rs771692972 CFAP69 Nonsynonymous SNV V373I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.74 155442 chr6 27293107 27293107 G A rs61746402 VN1R10P 0 0 0.051 0 0 0 0 15 0 0 0 0 4.991 155443 chr6 27293114 27293114 T A rs61743950 VN1R10P 0 0 0.051 0 0 0 0 15 0 0 0 0 1.132 155444 chr6 27293147 27293147 T A rs61743942 VN1R10P 0 0 0.051 0 0 0 0 15 0 0 0 0 5.839 155445 chr6 27293478 27293478 T C rs9468061 VN1R10P 0 0 0.048 0 0 0 0 14 0 0 0 0 0.355 155446 chr10 101639616 101639616 C T rs77307082 DNMBP Synonymous SNV P1132P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.17 155447 chr7 90894421 90894432 GGCCAGGGGCCA - rs562020756 FZD1 Q81_G84del 0.001 0 0 0 1 0 0 0 0 0 0 0 155448 chr10 101731768 101731768 A T rs376918039 DNMBP Nonsynonymous SNV F38L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 155449 chrX 106359966 106359966 - TGC RBM41 E12_H13insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 155450 chr6 2948535 2948535 C T rs727505227 SERPINB6 Synonymous SNV P390P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.49 155451 chr7 92735191 92735191 - TTCTTTG rs750552300 SAMD9 Frameshift insertion L74Qfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 155452 chr10 104155730 104155730 A G rs200361192 NFKB2 Nonsynonymous SNV Y5C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.7 155453 chr6 32525727 32525727 C T rs113506673 HLA-DRB6 0 0 0.034 0 0 0 0 10 0 0 5 0 0.238 155454 chr19 39401701 39401701 G A rs139537050 CCER2 Synonymous SNV H71H 0 0 0 2 0 0 0.005 0 0 0 0 0 1.336 155455 chr10 104678312 104678312 G T CNNM2 Nonsynonymous SNV W25C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.29 155456 chr7 96635638 96635638 - CCT DLX6 P117_Y118insS 0.001 0 0 0 1 0 0 0 0 0 0 0 155457 chr7 98569560 98569560 G C rs781665820 TRRAP Nonsynonymous SNV E2586Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.5 155458 chr8 100789102 100789102 G T VPS13B Nonsynonymous SNV W2474C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 155459 chr9 130509433 130509433 G A SH2D3C Synonymous SNV Y261Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.586 155460 chr10 113940306 113940306 T C rs143946136 GPAM Synonymous SNV K50K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.738 155461 chrX 135427353 135427353 T A rs771617203 ADGRG4 Synonymous SNV T496T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.694 155462 chr10 115381926 115381926 T C rs752777872 NRAP Nonsynonymous SNV E788G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 155463 chr22 21411433 21411435 CTC - LRRC74B L324del 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 155464 chr7 149500096 149500096 C T rs367602083 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 155465 chr6 36641993 36641993 C A rs148260186 PANDAR 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 155466 chr6 36976821 36976821 C T rs778559752 FGD2 Nonsynonymous SNV L94F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 155467 chr19 42259590 42259590 G A rs782541686 CEACAM6 Stop gain W15X 0 0.003 0 3 0 1 0.008 0 0 0 0 0 25.8 155468 chr19 42260697 42260697 G A rs61736638 CEACAM6 Nonsynonymous SNV G85E 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 Benign 0.001 155469 chr19 44419324 44419324 A T ZNF45 Synonymous SNV T88T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.51 155470 chrX 140994050 140994050 C T rs141817885 MAGEC1 Nonsynonymous SNV S287F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 155471 chr8 124664211 124664211 G A rs772515615 KLHL38 Nonsynonymous SNV P319L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 155472 chr6 41900196 41900196 G C BYSL Nonsynonymous SNV V356L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 155473 chr9 135458438 135458438 C T rs777244117 BARHL1 Nonsynonymous SNV A85V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 155474 chr10 123846896 123846896 G A rs746260034 TACC2 Synonymous SNV V1627V 0 0.005 0 0 0 2 0 0 0 0 0 0 4.164 155475 chr8 125463429 125463429 G T TRMT12 Synonymous SNV T87T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.628 155476 chr6 42689821 42689821 G A rs139936445 PRPH2 Synonymous SNV D84D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.075 155477 chr19 44636131 44636131 C G rs191376304 ZNF225 Nonsynonymous SNV P455R 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 23.2 155478 chrX 32486806 32486806 C G rs72468667 DMD Nonsynonymous SNV E983Q 0.004 0 0.003 1 5 0 0.003 1 1 0 0 0 Benign/Likely benign 22.3 155479 chr6 45882076 45882076 C A rs148377014 CLIC5 Nonsynonymous SNV E318D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 29.1 155480 chr19 46998334 46998334 G C rs139994198 PNMA8B Nonsynonymous SNV P130R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 11.12 155481 chr9 139794100 139794100 C T rs148192660 TRAF2 Synonymous SNV G81G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 15.38 155482 chr9 36651794 36651794 G T rs756655630 MELK Nonsynonymous SNV A194S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 155483 chr10 133109807 133109807 G A rs528370146 TCERG1L Nonsynonymous SNV A31V 0.007 0.008 0 1 8 3 0.003 0 2 1 0 0 23.3 155484 chr8 142228663 142228663 A G rs774454332 SLC45A4 Nonsynonymous SNV L308P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.063 155485 chr7 2618148 2618148 C T rs199860795 IQCE Synonymous SNV P141P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 155486 chr19 48343044 48343044 C G rs748655180 CRX Synonymous SNV P240P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.019 155487 chr7 27224464 27224464 G A rs200352994 HOXA11 Synonymous SNV A100A 0.003 0 0 0 4 0 0 0 0 0 0 0 14.17 155488 chr7 29924038 29924038 G A WIPF3 Nonsynonymous SNV A310T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 155489 chr8 144657651 144657651 G A rs369901658 NAPRT Synonymous SNV D384D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.934 155490 chr22 40075285 40075285 C T rs371218079 CACNA1I Synonymous SNV D1708D 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 16.31 155491 chr7 31611761 31611761 C T rs146605019 ITPRID1 Synonymous SNV T118T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 155492 chr10 18828215 18828215 A G rs757266593 CACNB2 Synonymous SNV Q460Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.333 155493 chr19 49344555 49344555 G A rs201224761 PLEKHA4 Nonsynonymous SNV R586W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 155494 chr10 19856538 19856538 G A rs7916213 MALRD1 Synonymous SNV P1862P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.62 155495 chr8 144942167 144942167 G A rs370264014 EPPK1 Nonsynonymous SNV T1752M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 155496 chr10 22048331 22048331 G A rs536392895 DNAJC1 Nonsynonymous SNV A455V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.803 155497 chr1 11252369 11252369 G A rs28991002 ANGPTL7 Nonsynonymous SNV R140H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 155498 chr10 26310461 26310461 C A rs55634590 MYO3A Synonymous SNV T205T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 16.81 155499 chr6 76576685 76576685 A T MYO6 Nonsynonymous SNV M603L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 155500 chr10 287978 287978 G C rs773584062 ZMYND11 Synonymous SNV L181L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.834 155501 chr11 62289420 62289420 C T rs371050003 AHNAK Nonsynonymous SNV D4157N 0.005 0 0 0 6 0 0 0 0 0 0 0 24.3 155502 chr10 108924007 108924007 C G rs761794885 SORCS1 Nonsynonymous SNV R93P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 155503 chr1 14057519 14057519 A G rs764491339 PRDM2 Nonsynonymous SNV T12A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.698 155504 chr11 62494528 62494528 T C HNRNPUL2 Nonsynonymous SNV Q34R 0.004 0 0 0 5 0 0 0 0 0 0 0 18.78 155505 chr6 8417650 8417650 - A rs766484022 SLC35B3 Frameshift insertion T255Nfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 155506 chr8 17014280 17014280 G A ZDHHC2 Synonymous SNV R16R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.694 155507 chr10 33510686 33510686 T C rs762153303 NRP1 Nonsynonymous SNV I415V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.08 155508 chr10 33515116 33515116 G A rs550303286 NRP1 Synonymous SNV D361D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.829 155509 chr6 90577984 90577984 C T rs3799896 CASP8AP2 Nonsynonymous SNV P1659S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.37 155510 chrX 10102548 10102548 G A rs147157126 WWC3 Nonsynonymous SNV R892Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 25.5 155511 chr22 50688877 50688877 G A rs533068264 HDAC10 Synonymous SNV F90F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.49 155512 chr10 45427489 45427489 G A rs557492250 TMEM72 Nonsynonymous SNV V61M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.45 155513 chr6 99956640 99956640 T G rs768017792 USP45 Nonsynonymous SNV H40P 0 0 0.003 0 0 0 0 1 0 0 0 0 27 155514 chr7 100172082 100172082 C T rs952436426 ZASP Nonsynonymous SNV S33N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.172 155515 chr10 11797554 11797554 G A rs144481528 ECHDC3 Nonsynonymous SNV G180R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 155516 chr11 64535217 64535217 G A SF1 Nonsynonymous SNV P275S 0.005 0 0 0 6 0 0 0 0 0 0 0 24.7 155517 chr1 17681093 17681093 T C PADI4 Synonymous SNV F407F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.726 155518 chr7 4841441 4841441 C T rs374955459 RADIL Synonymous SNV P895P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 155519 chr10 12143092 12143092 A G rs1004764465 DHTKD1 Nonsynonymous SNV Q603R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 155520 chrX 5811524 5811524 A T rs149203337 NLGN4X Synonymous SNV P595P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 155521 chr8 21767026 21767026 G A rs149795299 DOK2 Synonymous SNV Y191Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.473 155522 chr1 20009670 20009670 G A TMCO4 Stop gain Q590X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 155523 chr9 80262639 80262639 T C rs141591381 GNA14 Nonsynonymous SNV Q24R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.4 155524 chr10 50105606 50105606 G A WDFY4 Nonsynonymous SNV R2475H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 155525 chrX 132159511 132159511 T C rs139350477 USP26 Nonsynonymous SNV E913G 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 1 16.4 155526 chr19 52569041 52569041 T C rs772970512 ZNF841 Synonymous SNV R582R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.616 155527 chr8 22436328 22436328 C T rs536838099 PDLIM2 Synonymous SNV S12S 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 9.106 155528 chr7 5540768 5540768 G T FBXL18 Nonsynonymous SNV L378M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 155529 chr19 52887835 52887835 A G ZNF880 Synonymous SNV S334S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.439 155530 chr7 55902239 55902239 G A rs190406908 SEPTIN14 Nonsynonymous SNV S200F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 155531 chr8 24197035 24197035 G T rs191658345 ADAM28 Nonsynonymous SNV G542W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 155532 chr10 52575897 52575897 G A rs767446041 A1CF Nonsynonymous SNV P337L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.4 155533 chrX 49110472 49110472 G A rs782371089 FOXP3 Synonymous SNV V256V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.012 155534 chr8 27145143 27145143 G A rs199649028 TRIM35 Nonsynonymous SNV A469V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.768 155535 chr1 23519627 23519627 C T rs56041111 HTR1D Synonymous SNV E362E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.321 155536 chr10 55566703 55566703 G A rs747965484 PCDH15 Nonsynonymous SNV T1555M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 155537 chr10 55892652 55892652 C T rs146199636 PCDH15 Nonsynonymous SNV V597I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.6 155538 chrX 65242113 65242113 C - VSIG4 V304Sfs*14 0.001 0.005 0 0 1 2 0 0 0 0 0 0 155539 chr10 134698742 134698742 A G CFAP46 Synonymous SNV N1164N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.003 155540 chr10 62648242 62648242 C T rs765022264 RHOBTB1 Nonsynonymous SNV G275E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.448 155541 chr19 53844565 53844565 C G ZNF845 Nonsynonymous SNV A2G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 155542 chr8 30560675 30560675 G A GSR Nonsynonymous SNV T192I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 155543 chr7 100647854 100647854 T C rs546837208 MUC12 Synonymous SNV F4670F 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 0.007 155544 chr7 100647860 100647860 G C rs201265513 MUC12 Nonsynonymous SNV E4672D 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 0.079 155545 chr1 26664114 26664114 G T rs143892451 CRYBG2 Synonymous SNV R1187R 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 10.88 155546 chr7 7916951 7916951 C T rs182298930 UMAD1 Nonsynonymous SNV P66S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 155547 chrX 129147060 129147060 C T rs766447653 BCORL1 Synonymous SNV N104N 0 0.005 0 1 0 2 0.003 0 0 1 0 0 10.4 155548 chr7 7917037 7917037 C T rs747961229 UMAD1 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 155549 chrX 26157773 26157773 A G rs141579492 MAGEB18 Nonsynonymous SNV N224S 0.001 0 0.01 3 1 0 0.008 3 0 0 1 1 15.92 155550 chr19 55525876 55525876 A - GP6 L480Cfs*21 0 0 0 3 0 0 0.008 0 0 0 0 0 155551 chr1 29650265 29650265 C T rs144077160 PTPRU Synonymous SNV A1356A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.6 155552 chr8 42911507 42911507 G T rs536925174 FNTA Synonymous SNV G6G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.409 155553 chrX 151123340 151123340 G C rs61730044 GABRE Nonsynonymous SNV R452G 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign 2.718 155554 chrX 123466777 123466777 A G rs112963210 TEX13D Nonsynonymous SNV N4D 0.003 0.003 0.01 1 3 1 0.003 3 1 0 1 0 2.145 155555 chr7 122635151 122635151 C G rs763580166 TAS2R16 Nonsynonymous SNV A180P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 155556 chr7 123672323 123672323 A G rs756438455 TMEM229A Synonymous SNV L245L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 155557 chr7 97822915 97822915 C T rs142859460 LMTK2 Synonymous SNV P1046P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.78 155558 chr11 74716476 74716476 C G rs768841662 NEU3 Nonsynonymous SNV T38S 0.008 0.01 0 0 9 4 0 0 0 0 0 0 23.3 155559 chrX 153590902 153590902 G A rs200053635 FLNA Nonsynonymous SNV P817S 0 0.005 0 0 0 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 16.71 155560 chr7 98574353 98574353 C T rs775054593 TRRAP Nonsynonymous SNV T2711M 0.002 0 0 0 2 0 0 0 0 0 0 0 19.35 155561 chrX 153735814 153735814 G A rs149966237 FAM3A Synonymous SNV N114N 0 0.008 0 1 0 3 0.003 0 0 1 0 0 Benign 12.91 155562 chr7 99247802 99247802 G C rs188908808 CYP3A5 Nonsynonymous SNV T436S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.641 155563 chr7 99490329 99490329 G A rs148812488 TRIM4 Synonymous SNV L294L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 155564 chr1 37941373 37941373 C T rs200950368 ZC3H12A Synonymous SNV T92T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.236 155565 chrX 139866424 139866441 GTCTTCCAACAAAGGTAC - rs774900906 CDR1 V31_D36del 0.002 0.008 0 0 2 3 0 0 0 0 0 0 155566 chr7 99709812 99709812 G A rs137918475 TAF6 Synonymous SNV I250I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 155567 chr8 67578162 67578162 A G rs150048283 VCPIP1 Synonymous SNV C344C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 155568 chr10 7605054 7605054 C T rs907204199 ITIH5 Synonymous SNV R726R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.5 155569 chrX 144905501 144905501 G A SLITRK2 Nonsynonymous SNV A520T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.51 155570 chr7 129843881 129843892 CCTCTGTTTCTT - rs766613454 TMEM209 K21_A25delinsT 0 0 0.003 0 0 0 0 1 0 0 0 0 155571 chr11 76868418 76868418 G C MYO7A Nonsynonymous SNV D277H 0.006 0 0 0 7 0 0 0 0 0 0 0 24.9 155572 chr8 68115478 68115478 C T rs61758876 ARFGEF1 Synonymous SNV A1656A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.65 155573 chr8 68137215 68137215 C T rs61758875 ARFGEF1 Synonymous SNV V1377V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.9 155574 chr1 40961562 40961562 G A rs149904505 ZFP69 Nonsynonymous SNV R472H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.6 155575 chr7 135078745 135078745 T C CNOT4 Nonsynonymous SNV T515A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 155576 chrX 152845595 152845595 G A rs782008053 ATP2B3 Nonsynonymous SNV E1168K 0.006 0.008 0 0 7 3 0 0 0 1 0 0 16.42 155577 chrX 73959282 73959282 A G rs41303725 NEXMIF Synonymous SNV P1503P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.015 155578 chr8 77768159 77768159 G T rs775483953 ZFHX4 Nonsynonymous SNV G3001V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21 155579 chr8 10622972 10622972 G A rs777237177 PINX1 Nonsynonymous SNV A309V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.212 155580 chr8 8235058 8235058 C T rs557157220 PRAG1 Synonymous SNV T287T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.25 155581 chr8 86027639 86027639 A G rs549511486 LRRCC1 Synonymous SNV A157A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.382 155582 chr8 110510782 110510782 G C rs201721695 PKHD1L1 Nonsynonymous SNV R3564P 0.003 0 0 0 3 0 0 0 0 0 0 0 34 155583 chr8 87638246 87638246 T C rs998995220 CNGB3 Nonsynonymous SNV N515D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 155584 chrX 9863126 9863126 C A rs201195196 SHROOM2 Nonsynonymous SNV A393E 0.004 0.008 0 3 5 3 0.008 0 0 1 0 1 1.113 155585 chr10 100202971 100202971 C G rs7914192 HPS1 Nonsynonymous SNV E9D 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 20.4 155586 chr8 94767262 94767262 T C rs767999682 TMEM67 Synonymous SNV S40S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.31 155587 chrX 64749722 64749722 T A rs752976521 LAS1L Nonsynonymous SNV Y142F 0 0.005 0 0 0 2 0 0 0 1 0 0 15.2 155588 chr10 101716850 101716850 G A DNMBP Synonymous SNV S127S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 155589 chr10 102269199 102269199 G A rs760930588 SEC31B Synonymous SNV G91G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 155590 chr8 124266159 124266159 C G ZHX1 Nonsynonymous SNV K676N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 155591 chr8 124408514 124408514 G A rs138728114 ATAD2 Synonymous SNV F28F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 155592 chr8 97157394 97157394 C A rs916794392 GDF6 Synonymous SNV P255P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 155593 chr10 102684517 102684517 A G rs200291736 SLF2 Nonsynonymous SNV N587D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 155594 chr10 104181234 104181234 G A FBXL15 Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.268 155595 chr10 104309820 104309820 C T rs946508687 SUFU Synonymous SNV P137P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19 155596 chr19 58455311 58455311 T C rs142285455 ZNF256 Nonsynonymous SNV T51A 0 0 0 3 0 0 0.008 0 0 0 0 0 0.145 155597 chr8 125499186 125499186 A G RNF139 Synonymous SNV L432L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.288 155598 chr7 149558305 149558305 C T rs376393979 ZNF862 Nonsynonymous SNV R686W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 155599 chr10 112581575 112581575 C G RBM20 Nonsynonymous SNV C1066W 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 23.4 155600 chr8 133899184 133899184 T C rs116062097 TG Nonsynonymous SNV S523P 0.009 0.008 0.01 1 11 3 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 5.677 155601 chr7 150095084 150095084 C T rs372897443 ZNF775 Synonymous SNV P505P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.92 155602 chr12 101779849 101779849 A C rs776160013 UTP20 Nonsynonymous SNV K2769T 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 155603 chr7 150767567 150767567 A G rs34077174 SLC4A2 Synonymous SNV P482P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.58 155604 chr7 150820917 150820917 G A rs369359595 AGAP3 Nonsynonymous SNV A161T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 155605 chr12 103234215 103234215 A G rs59326968 PAH Synonymous SNV N426N 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 Benign 9.067 155606 chr1 60228179 60228179 T C rs780271668 FGGY Nonsynonymous SNV Y228H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 155607 chr7 154860891 154860891 G A rs542465865 HTR5A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.093 155608 chr20 3209353 3209353 C G rs149912717 SLC4A11 Synonymous SNV T693T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.459 155609 chr20 3674261 3674261 G A rs148932925 SIGLEC1 Nonsynonymous SNV P1114L 0 0 0 3 0 0 0.008 0 0 0 0 0 5.363 155610 chr7 157926508 157926508 G A PTPRN2 Nonsynonymous SNV L435F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 155611 chr11 1018170 1018170 G T rs781183452 MUC6 Nonsynonymous SNV T1544K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.31 155612 chr20 7886834 7886834 A G rs146825169 HAO1 Nonsynonymous SNV S230P 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 5.868 155613 chr1 67450263 67450263 T C rs189050888 MIER1 Nonsynonymous SNV S407P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.9 155614 chr20 9561224 9561224 C T rs747878050 PAK5 Synonymous SNV K186K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.498 155615 chr8 144873405 144873405 T A rs200643687 SCRIB Nonsynonymous SNV E1607D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.91 155616 chr10 116045993 116045993 G A rs566742651 VWA2 Synonymous SNV E431E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.172 155617 chr10 116060073 116060073 C T rs760017215 AFAP1L2 Nonsynonymous SNV V530I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.665 155618 chr9 117386719 117386719 C T rs79769489 TMEM268 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 155619 chr12 109967852 109967852 G T rs141709807 UBE3B Nonsynonymous SNV A929S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 155620 chr10 127540897 127540897 G A rs143704757 DHX32 Nonsynonymous SNV A439V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 155621 chr1 75037309 75037309 C A ERICH3 Nonsynonymous SNV G1362V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.8 155622 chr10 129903362 129903362 C T rs145732129 MKI67 Nonsynonymous SNV V1888I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.994 155623 chr9 123739118 123739118 T C rs767192159 C5 Nonsynonymous SNV T1248A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 155624 chr8 144998262 144998262 C T rs781912324 PLEC Synonymous SNV E1931E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.361 155625 chr12 111785442 111785442 G A rs200919469 CUX2 Synonymous SNV P1196P 0.009 0.018 0.01 1 11 7 0.003 3 0 0 0 0 0.657 155626 chr10 79779006 79779006 G A rs760700842 POLR3A Synonymous SNV I401I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.58 155627 chr9 125329920 125329921 TG - OR1L8 T279Sfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 155628 chr8 145065638 145065638 C T rs201205064 GRINA Nonsynonymous SNV P83S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 155629 chr1 82409337 82409337 A G rs147030277 ADGRL2 Nonsynonymous SNV Q361R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.847 155630 chr9 125377901 125377901 G A rs75358267 OR1Q1 Synonymous SNV G295G 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 3.607 155631 chr10 1230975 1230975 C A ADARB2 Synonymous SNV V623V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 155632 chr20 23016584 23016584 C T rs376321198 SSTR4 Nonsynonymous SNV A155V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 155633 chr10 134261433 134261433 C T rs370100708 C10orf91 0.001 0 0 0 1 0 0 0 0 0 0 0 9.997 155634 chr11 10603477 10603477 C T MRVI1 Nonsynonymous SNV S451N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.741 155635 chr9 127995995 127995995 T G rs148143813 RABEPK Nonsynonymous SNV F234L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 155636 chr12 117593597 117593597 T C FBXO21 Synonymous SNV Q558Q 0.003 0 0 0 3 0 0 0 0 0 0 0 9.518 155637 chr20 31021116 31021116 A G ASXL1 Nonsynonymous SNV Q311R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.06 155638 chr8 145746298 145746298 C A rs143938732 LRRC14 Synonymous SNV T306T 0.003 0.008 0.007 5 3 3 0.013 2 0 0 0 0 15.92 155639 chr10 91497902 91497902 C T rs78400882 KIF20B Synonymous SNV L1102L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 2.019 155640 chr11 1093530 1093530 C G rs372769238 MUC2 Synonymous SNV T1783T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.803 155641 chr10 94828280 94828280 G T rs369876110 CYP26C1 Synonymous SNV A465A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.93 155642 chr12 120651738 120651738 G A rs773831994 PXN Synonymous SNV F486F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.51 155643 chr11 110104045 110104045 T C rs140180881 RDX Nonsynonymous SNV N155D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 1.246 155644 chr20 31894721 31894721 A G rs374638532 BPIFB1 Synonymous SNV K441K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.165 155645 chr1 89732759 89732759 - AGTC rs540327216 GBP5 Stop gain S169* 0 0 0 1 0 0 0.003 0 0 0 0 0 155646 chr12 121605372 121605372 C T rs769736394 P2RX7 Nonsynonymous SNV R276C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 35 155647 chr9 13126583 13126583 G A rs372104310 MPDZ Stop gain R1489X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 155648 chr1 93826068 93826068 G A rs182894486 DR1 Nonsynonymous SNV E135K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 155649 chr9 131763850 131763850 G A rs139806593 NUP188 Nonsynonymous SNV V1296I 0.001 0 0 0 1 0 0 0 0 0 0 0 22 155650 chr10 99439439 99439439 C T rs145546193 AVPI1 Nonsynonymous SNV R75H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.3 155651 chr9 131866493 131866493 G C rs148243375 CRAT Nonsynonymous SNV D128E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.05 155652 chr20 37272390 37272390 A T rs115554363 ARHGAP40 Nonsynonymous SNV H468L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 22 155653 chr10 26446356 26446356 C T MYO3A Stop gain Q971X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 155654 chr12 123341615 123341615 G A HIP1R Synonymous SNV K556K 0.003 0 0 0 4 0 0 0 0 0 0 0 9.585 155655 chr12 123477126 123477126 C T rs536051336 PITPNM2 Nonsynonymous SNV R775Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.8 155656 chr11 117299414 117299414 C T rs145244816 DSCAML1 Nonsynonymous SNV R1931Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 155657 chr11 117985970 117985970 C T rs529812494 TMPRSS4 Nonsynonymous SNV P336L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.308 155658 chr9 134354689 134354689 A T PRRC2B Synonymous SNV A1603A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.124 155659 chr9 134501448 134501448 G A rs369606418 RAPGEF1 Synonymous SNV Y521Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.476 155660 chr1 109838905 109838905 A G rs201047006 MYBPHL Nonsynonymous SNV V273A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 155661 chr11 119216868 119216868 A G rs372897338 MFRP Synonymous SNV G53G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.17 155662 chr20 44676189 44676189 C T SLC12A5 Synonymous SNV I651I 0 0 0 2 0 0 0.005 0 0 0 0 0 15.14 155663 chr9 136227302 136227302 C T rs781889297 SURF2 Nonsynonymous SNV R227C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 155664 chr7 6175526 6175526 C T rs61757573 USP42 Nonsynonymous SNV A166V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.6 155665 chr8 24811020 24811020 G A rs61726486 NEFL Synonymous SNV A486A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 0.097 155666 chr10 43701477 43701477 C T rs764801376 RASGEF1A Nonsynonymous SNV G38R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 155667 chr9 136521654 136521654 G A rs41316996 DBH Nonsynonymous SNV G482R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 27.7 155668 chr12 14825883 14825883 C G rs201135486 GUCY2C Nonsynonymous SNV G365A 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 155669 chr1 118441716 118441716 T C rs17037743 GDAP2 Synonymous SNV R253R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.528 155670 chr1 118441722 118441722 A G rs34262092 GDAP2 Synonymous SNV P251P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.151 155671 chr12 16111205 16111205 C G rs199729779 DERA Synonymous SNV L71L 0.006 0 0 0 7 0 0 0 0 0 0 0 13.63 155672 chr7 75864433 75864433 G A rs193146127 SRRM3 Nonsynonymous SNV D17N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 155673 chr7 7622877 7622877 G A rs373189182 MIOS Nonsynonymous SNV V508M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 155674 chr8 32616933 32616933 T C NRG1 Nonsynonymous SNV V193A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 155675 chr1 145474136 145474136 C T rs782565433 ANKRD34A Nonsynonymous SNV R270C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 155676 chr20 57289018 57289018 G A rs536787675 NPEPL1 Nonsynonymous SNV A391T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.8 155677 chr9 139726216 139726216 C T RABL6 Nonsynonymous SNV H168Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 155678 chr10 43610100 43610100 G A rs145122337 RET Synonymous SNV P430P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.164 155679 chr9 139837957 139837957 C T rs771100836 FBXW5 Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 155680 chr1 150115051 150115051 G A VPS45 Nonsynonymous SNV R449Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.76 155681 chr1 150444361 150444361 C T rs748718234 RPRD2 Nonsynonymous SNV H907Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.341 155682 chr1 150482144 150482144 C T rs201295989 ECM1 Synonymous SNV Y43Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.67 155683 chr10 49628329 49628329 C T rs55984396 MAPK8 Synonymous SNV P194P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.81 155684 chr12 247636 247636 G A rs143025838 IQSEC3 Synonymous SNV A66A 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign 6.936 155685 chr12 27641445 27641445 C T rs148846851 SMCO2 Nonsynonymous SNV R189W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.82 155686 chr10 50533757 50533757 C G rs950034709 C10orf71 Nonsynonymous SNV S1056C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.9 155687 chr9 140953545 140953545 C G rs201657859 CACNA1B Synonymous SNV P1496P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 155688 chr7 96115627 96115627 G C rs78670506 SEM1 Nonsynonymous SNV R39G 0 0 0.014 0 0 0 0 4 0 0 0 0 1.69 155689 chr8 62580816 62580816 - GTC rs535549266 ASPH A85delinsGP 0.001 0 0 0 1 0 0 0 0 0 0 0 155690 chr8 62580819 62580819 A T rs527506012 ASPH Nonsynonymous SNV V84E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 155691 chr8 62580820 62580820 - TGGGA rs553543086 ASPH Frameshift insertion V84Sfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 155692 chr9 15307090 15307090 C T rs202092498 TTC39B Nonsynonymous SNV A78T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 155693 chr9 15423046 15423046 G C rs202082183 SNAPC3 Nonsynonymous SNV G57R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.305 155694 chr9 15874593 15874593 C T rs144862865 CCDC171 Nonsynonymous SNV P1186S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 155695 chr8 100844858 100844858 C T rs149842139 VPS13B Nonsynonymous SNV R3223W 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 25.4 155696 chr8 101601143 101601143 T C rs199912511 SNX31 Nonsynonymous SNV Q249R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 155697 chr8 67040549 67040549 C T rs61760894 TRIM55 Nonsynonymous SNV P60L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 155698 chr8 68995492 68995492 C T rs756653868 PREX2 Synonymous SNV V632V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 155699 chr12 4554549 4554549 G A rs17183529 FGF6 Nonsynonymous SNV A63V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 4.466 155700 chr11 17632165 17632165 C T rs749527625 OTOG Nonsynonymous SNV A1785V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.634 155701 chr11 117089242 117089242 C T rs143770986 PCSK7 Nonsynonymous SNV V492M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.196 155702 chr1 156518376 156518376 G T IQGAP3 Nonsynonymous SNV P664T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 155703 chr9 2834094 2834094 A G rs184075081 PUM3 Nonsynonymous SNV L126P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 155704 chr20 62839332 62839332 C T rs138499052 MYT1 Synonymous SNV D261D 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.03 155705 chr8 92032453 92032453 T C PIP4P2 Synonymous SNV R98R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.297 155706 chr11 118518729 118518729 G C PHLDB1 Nonsynonymous SNV E1150D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 155707 chr1 157650525 157650525 T C rs191771214 FCRL3 Nonsynonymous SNV I665V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 155708 chr10 72357857 72357857 T C rs149776121 PRF1 Synonymous SNV Q540Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 155709 chr9 35706007 35706007 A G rs11541909 TLN1 Synonymous SNV A1821A 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Benign 6.703 155710 chr11 120200768 120200768 C T TLCD5 Synonymous SNV Y116Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.724 155711 chr8 123964912 123964912 G A rs142123946 ZHX2 Nonsynonymous SNV V388I 0.005 0.008 0.014 0 6 3 0 4 0 0 0 0 23.6 155712 chr8 124373782 124373782 T C rs372091209 ATAD2 Nonsynonymous SNV N385S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 155713 chr9 100122294 100122294 G A rs181290710 CCDC180 Nonsynonymous SNV V1176I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.459 155714 chr10 74100894 74100894 C T rs754830639 DNAJB12 Synonymous SNV P164P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 155715 chr10 75532778 75532778 C T rs780209274 FUT11 Synonymous SNV R229R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 155716 chr10 75671243 75671243 G A rs377412161 C10orf55 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 9.625 155717 chr9 101570204 101570204 - GGGCGCGCG GALNT12 G79_E80insARG 0.001 0 0 0 1 0 0 0 0 0 0 0 155718 chr10 77161100 77161100 - CTGCCTCCGCCT ZNF503 G27_A28insGGSG 0.002 0 0 0 2 0 0 0 0 0 0 0 155719 chr10 7786167 7786167 G A ITIH2 Nonsynonymous SNV E778K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 155720 chr8 133047035 133047035 G A rs774504502 OC90 Synonymous SNV S242S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.148 155721 chr21 37618811 37618811 C T rs143393435 DOP1B Synonymous SNV Y1511Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.615 155722 chr9 106860735 106860735 T G rs778733809 SMC2 Nonsynonymous SNV I109M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 155723 chr10 88451715 88451715 A G rs34423165 LDB3 Nonsynonymous SNV K251R 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign/Likely benign 23.2 155724 chr10 88466432 88466432 C A rs45555240 LDB3 Synonymous SNV S347S 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 6.421 155725 chr10 88478529 88478529 G A rs45618633 LDB3 Nonsynonymous SNV V572I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 23.8 155726 chr11 3062158 3062158 G A CARS1 Synonymous SNV T58T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.57 155727 chr1 161163439 161163439 T C rs150093855 ADAMTS4 Nonsynonymous SNV T576A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.052 155728 chr10 91162723 91162723 G A rs748555856 IFIT1 Nonsynonymous SNV G231R 0.003 0 0 0 4 0 0 0 0 0 0 0 7.072 155729 chr11 34180861 34180861 C T rs182418117 ABTB2 Nonsynonymous SNV M893I 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 13.75 155730 chr10 92680025 92680025 A G rs145211719 ANKRD1 Synonymous SNV A36A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 0.478 155731 chr10 96006364 96006364 G A rs201933093 PLCE1 Nonsynonymous SNV V720I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 155732 chr9 113221263 113221263 G A rs375907567 SVEP1 Synonymous SNV F1151F 0.003 0 0 0 3 0 0 0 0 0 0 0 3.603 155733 chr10 97515639 97515639 A G rs538484384 ENTPD1-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.26 155734 chr9 94486817 94486817 C T rs144549032 ROR2 Synonymous SNV L653L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.759 155735 chr9 95050482 95050482 C T IARS1 Nonsynonymous SNV V68I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 155736 chr1 170633399 170633399 G A rs768368980 PRRX1 Nonsynonymous SNV A14T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.769 155737 chr10 98078174 98078174 C T rs36126211 DNTT Nonsynonymous SNV A90V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.86 155738 chr1 171510307 171510307 C T rs61814671 PRRC2C Synonymous SNV P1232P 0 0 0 2 0 0 0.005 0 0 0 0 0 8.623 155739 chr1 172502564 172502564 A G rs745506396 SUCO Nonsynonymous SNV K192E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 155740 chr11 45832766 45832766 G A rs377098836 SLC35C1 Synonymous SNV T325T 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Likely benign 9.43 155741 chr10 99509251 99509251 G T rs35077384 ZFYVE27 Nonsynonymous SNV G73V 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 155742 chr8 144804278 144804278 G T rs782370563 MAPK15 Nonsynonymous SNV G498C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 155743 chr21 45860697 45860697 C T rs199551344 TRPM2 Nonsynonymous SNV P113L 0 0 0 3 0 0 0.008 0 0 0 0 0 32 155744 chr1 180243465 180243465 T C rs146655496 LHX4 Synonymous SNV Y308Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.158 155745 chr8 144996061 144996061 T C rs782259091 PLEC Nonsynonymous SNV E2629G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 0.649 155746 chrX 109696312 109696312 A T RTL9 Nonsynonymous SNV M823L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 155747 chrX 114425877 114425877 G A rs782496034 RBMXL3 Nonsynonymous SNV G625R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.615 155748 chrX 12736542 12736542 G A FRMPD4 Nonsynonymous SNV M1159I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 155749 chr1 186296618 186296618 C G rs746252858 TPR Nonsynonymous SNV D1955H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 155750 chr11 18729488 18729488 C T rs146342750 IGSF22 Nonsynonymous SNV R1048Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.6 155751 chr1 200378567 200378567 C T rs61733911 ZNF281 Synonymous SNV E89E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.387 155752 chr9 127661686 127661686 G A rs148816446 GOLGA1 Synonymous SNV R411R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.715 155753 chr9 129148938 129148938 G A MVB12B 0.001 0 0 0 1 0 0 0 0 0 0 0 28 155754 chr1 201058428 201058428 G A rs61734621 CACNA1S Synonymous SNV Y286Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 9.335 155755 chr1 201180144 201180144 - AA IGFN1 Frameshift insertion E2042Kfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 155756 chr1 201180145 201180145 - GGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTA IGFN1 Stop gain E2042Gfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 155757 chr8 19701702 19701702 G T rs180799303 INTS10 Nonsynonymous SNV C384F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.5 155758 chr1 201286759 201286759 C T rs190053583 PKP1 Synonymous SNV N302N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 155759 chr22 19776365 19776365 G A rs73148914 GNB1L Nonsynonymous SNV T284M 0.003 0.005 0.003 6 3 2 0.015 1 0 0 0 0 24.4 155760 chr9 130698052 130698052 G A rs148371368 DPM2 Synonymous SNV F68F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.7 155761 chr8 20110540 20110540 C T rs781698128 LZTS1 Nonsynonymous SNV R301H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 155762 chr12 7045894 7045894 - CAGCAGCAGCAG ATN1 Q502_H503insQQQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 155763 chr11 102714266 102714266 A T rs144383864 MMP3 Synonymous SNV L4L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 0.006 155764 chr11 5011057 5011057 G A rs149405690 MMP26 Synonymous SNV S93S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.146 155765 chr8 21959021 21959021 G A rs758777354 FAM160B2 Nonsynonymous SNV V562I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 155766 chr11 2631758 2631758 C T rs117893171 KCNQ1OT1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.859 155767 chr1 203018887 203018887 C - PPFIA4 H502Tfs*33 0 0 0 1 0 0 0.003 0 0 0 0 0 155768 chr8 22031143 22031143 C T rs765667672 BMP1 Synonymous SNV D59D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.03 155769 chr8 22476865 22476865 - AAGGTAAGGTGGG CCAR2 Frameshift insertion A909Vfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 155770 chr8 22548226 22548226 C G rs369811221 EGR3 Synonymous SNV R270R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.764 155771 chrX 19391722 19391722 G A rs143992275 MAP3K15 Synonymous SNV S955S 0.003 0.003 0 0 3 1 0 0 1 0 0 0 9.447 155772 chr11 108380630 108380630 G A rs200915742 EXPH5 Synonymous SNV S1680S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.003 155773 chr8 24771312 24771312 C A NEFM Nonsynonymous SNV S2R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 155774 chr11 111591729 111591729 C A rs767344630 SIK2 Nonsynonymous SNV D629E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.42 155775 chr12 85450785 85450785 T C rs141389516 LRRIQ1 Synonymous SNV I738I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.75 155776 chr12 88939586 88939586 T A rs754910466 KITLG Nonsynonymous SNV K24N 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 155777 chrX 48687726 48687726 T C ERAS Nonsynonymous SNV C65R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 155778 chr11 116661282 116661282 G A rs1038579905 APOA5 Synonymous SNV P221P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.57 155779 chr22 30768043 30768043 C G KIAA1656 0 0 0 3 0 0 0.008 0 0 0 0 0 2.221 155780 chr11 45671682 45671682 G C rs139813023 CHST1 Synonymous SNV P264P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.467 155781 chrX 67937097 67937097 A G rs746215294 STARD8 Nonsynonymous SNV H34R 0.003 0 0 0 3 0 0 0 1 0 0 0 0.001 155782 chr11 118926023 118926023 C T rs150918294 HYOU1 Nonsynonymous SNV R98H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 155783 chr8 48874115 48874115 G A rs200577338 MCM4 Nonsynonymous SNV R37H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 155784 chr22 31032704 31032704 G A rs115547861 SLC35E4 Synonymous SNV V89V 0 0 0.003 3 0 0 0.008 1 0 0 0 0 3.849 155785 chr11 55703050 55703051 AT - rs559329692 OR5I1 I276Lfs*17 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 155786 chr22 31090314 31090314 G A rs569016755 OSBP2 Synonymous SNV Q44Q 0 0 0.003 3 0 0 0.008 1 0 0 0 0 6.925 155787 chr22 31337532 31337532 G A rs371713427 MORC2 Nonsynonymous SNV R238C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 28.9 155788 chr8 52321966 52321966 G A rs201280324 PXDNL Nonsynonymous SNV P740S 0 0 0.007 2 0 0 0.005 2 0 0 0 0 24.8 155789 chr1 220340869 220340869 C T rs754509783 RAB3GAP2 Nonsynonymous SNV M985I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 155790 chr11 118363834 118363834 C T rs771532622 KMT2A Synonymous SNV P1689P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 155791 chr8 56367527 56367527 T C rs768181319 SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.189 155792 chr11 120331404 120331404 G A rs970812997 ARHGEF12 Nonsynonymous SNV A832T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 155793 chrX 8699999 8699999 G C rs990367646 ANOS1 Nonsynonymous SNV P27A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 155794 chr8 65488962 65488962 G A rs73689545 LOC401463 0 0 0.061 0 0 0 0 18 0 0 0 0 9.143 155795 chr8 67335877 67335877 C G rs12674507 RRS1-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 2.822 155796 chr11 123513184 123513184 G A rs368054375 SCN3B Nonsynonymous SNV R139W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 33 155797 chr1 225586971 225586971 A T rs41305733 DNAH14 X4618Y 0.009 0.016 0.01 9 11 6 0.023 3 0 0 0 0 23 155798 chr8 71060548 71060548 A G NCOA2 Synonymous SNV P701P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.76 155799 chr13 113516758 113516758 G A rs141611036 ATP11A Nonsynonymous SNV V954I 0.005 0 0 0 6 0 0 0 0 0 0 0 2.825 155800 chr9 140146560 140146560 A G rs28657439 STPG3 Nonsynonymous SNV S126G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 22.3 155801 chr1 228210549 228210549 C T rs780065621 WNT3A Nonsynonymous SNV R85W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 155802 chr8 8176387 8176387 - GGGGCG rs143409664 PRAG1, PRAG1 A1171_A1172insPA 0.004 0.01 0.071 2 5 4 0.005 21 2 2 10 1 155803 chr10 104176566 104176566 C T rs770307003 PSD Nonsynonymous SNV R77H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 155804 chr9 140509206 140509206 C T ARRDC1 Nonsynonymous SNV P331S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 155805 chr22 40364052 40364052 C T rs141126223 GRAP2 Nonsynonymous SNV R43W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 23.4 155806 chr22 40704624 40704624 C T TNRC6B Nonsynonymous SNV A1300V 0 0 0 2 0 0 0.005 0 0 0 0 0 25 155807 chr9 16435765 16435765 T C BNC2 Synonymous SNV T767T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 155808 chr9 100124555 100124555 G C rs143570099 CCDC180 Nonsynonymous SNV G1289A 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 3.571 155809 chr9 100365048 100365049 CT - rs745960515 TSTD2 E418Vfs*12 0 0 0.007 1 0 0 0.003 2 0 0 0 0 155810 chr10 105963489 105963489 G A CFAP43 Nonsynonymous SNV P346S 0.003 0 0 0 3 0 0 0 0 0 0 0 4.238 155811 chr9 20414344 20414355 CTGCTGCTGCTG - MLLT3 S184_S187del 0.001 0 0 0 1 0 0 0 0 0 0 0 155812 chr11 124742934 124742934 C A rs144055440 ROBO3 Nonsynonymous SNV D495E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.258 155813 chr22 42610246 42610246 A G TCF20 Nonsynonymous SNV S356P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26 155814 chr9 2622195 2622195 C T VLDLR Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 155815 chr11 57081289 57081289 G A rs368927978 TNKS1BP1 Synonymous SNV P291P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.755 155816 chr11 129756216 129756216 C T rs202178372 NFRKB Nonsynonymous SNV R167Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 155817 chr9 111745471 111745471 G C rs757062428 CTNNAL1 Nonsynonymous SNV T285S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.029 155818 chr22 45258295 45258295 C T rs149982577 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV I374I 0 0 0 2 0 0 0.005 0 0 0 0 0 11.66 155819 chr9 112144004 112144004 C T rs755840613 PTPN3 Synonymous SNV R532R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 155820 chr9 112189273 112189273 C T rs752334142 PTPN3 Nonsynonymous SNV V33I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 155821 chr11 13749144 13749144 T C rs766770691 FAR1 Synonymous SNV Y433Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 1.429 155822 chr1 241729857 241729857 G A KMO Nonsynonymous SNV D252N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 155823 chr1 241757787 241757787 G A rs151169647 OPN3 Synonymous SNV D384D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.957 155824 chr1 241823909 241823909 C G rs202067234 WDR64 Nonsynonymous SNV R75G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 15.77 155825 chr9 113137727 113137727 G A rs180788725 SVEP1 Synonymous SNV P3507P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.9 155826 chr10 121432086 121432086 G A rs372970842 BAG3 Nonsynonymous SNV R276Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 155827 chr9 37861334 37861334 G C rs754708460 DCAF10 Nonsynonymous SNV Q330H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.49 155828 chr22 50216831 50216831 C T BRD1 Nonsynonymous SNV V379I 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 155829 chr9 115940933 115940933 G C rs764577153 FKBP15 Nonsynonymous SNV T688S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.098 155830 chr1 246797254 246797254 A G CNST Synonymous SNV L215L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.691 155831 chr9 117103870 117103870 G A rs776825328 AKNA Nonsynonymous SNV P1218L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.88 155832 chr9 117166272 117166272 G A rs55966714 WHRN Synonymous SNV S423S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.23 155833 chr11 2324118 2324118 C T rs146480945 TSPAN32 Synonymous SNV F37F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 155834 chr10 133955468 133955468 C T rs368508647 JAKMIP3 Synonymous SNV T434T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 155835 chr13 99449715 99449715 C T rs761283418 DOCK9 Nonsynonymous SNV R1951Q 0.003 0 0 0 3 0 0 0 0 0 0 0 32 155836 chr11 32624547 32624547 A T rs199847743 CCDC73 Nonsynonymous SNV I1017K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.005 155837 chr11 32417946 32417946 C T rs772590420 WT1 Nonsynonymous SNV R357Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 35 155838 chr11 3121479 3121479 C T rs186545647 OSBPL5 Synonymous SNV S442S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 155839 chrX 110987954 110987956 ACC - rs759349340 ALG13 P945del 0.004 0 0 0 5 0 0 0 2 0 0 0 155840 chr11 32634988 32634988 A C rs117521878 CCDC73 Nonsynonymous SNV V959G 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 0.002 155841 chr11 32635078 32635078 G A rs149853604 CCDC73 Nonsynonymous SNV S929F 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 21.1 155842 chrX 118797558 118797558 C G rs199562714 SEPTIN6 Nonsynonymous SNV Q76H 0.002 0 0 0 2 0 0 0 1 0 0 0 21.6 155843 chr9 131397137 131397137 G A rs747050698 WDR34 Synonymous SNV L349L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.691 155844 chrX 122598736 122598736 C T rs184185835 GRIA3 Synonymous SNV Y699Y 0.004 0 0 3 5 0 0.008 0 1 0 0 1 0.402 155845 chrX 123197802 123197802 A G rs778081358 STAG2 Synonymous SNV E642E 0.004 0 0 3 5 0 0.008 0 1 0 0 1 8.499 155846 chrX 64743517 64743517 G A rs761061736 LAS1L Synonymous SNV S398S 0.004 0.003 0.007 4 5 1 0.01 2 2 0 0 1 Likely benign 5.745 155847 chr10 23220962 23220962 C T rs779874286 ARMC3 Nonsynonymous SNV P13S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 155848 chr2 17699602 17699602 A T rs200065038 RAD51AP2 Nonsynonymous SNV D27E 0.005 0 0 2 6 0 0.005 0 0 0 0 0 5.419 155849 chrX 142121819 142121819 G A rs192490623 SPANXN4 Synonymous SNV K29K 0.003 0 0 0 4 0 0 0 1 0 0 0 5.076 155850 chr9 133884802 133884802 C T rs762481104 LAMC3 Synonymous SNV A67A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.7 155851 chr11 46898124 46898124 C T rs137882536 LRP4 Synonymous SNV T1143T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.36 155852 chrX 152584811 152584811 G A rs782684580 PNMA6F Nonsynonymous SNV A441V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.177 155853 chr10 30318754 30318754 G A rs771760171 JCAD Nonsynonymous SNV P108L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.661 155854 chrX 96213120 96213120 G C rs20389 DIAPH2 Synonymous SNV V636V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 0.282 155855 chr2 25141485 25141485 G C rs77878802 ADCY3 Synonymous SNV L124L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.828 155856 chr2 26029211 26029211 A - ASXL2 0 0 0 1 0 0 0.003 0 0 0 0 0 155857 chr9 135759446 135759446 G A rs200511339 SPACA9 Nonsynonymous SNV D38N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 34 155858 chr11 47357479 47357479 C T rs35078470 MYBPC3 Nonsynonymous SNV V896M 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign/Likely benign 24 155859 chr9 136314986 136314986 G A rs36222275 ADAMTS13 Nonsynonymous SNV G982R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.57 155860 chrX 107224660 107224660 C T rs41300872 TEX13B Nonsynonymous SNV G197R 0.008 0.013 0.01 5 9 5 0.013 3 2 1 1 2 12.29 155861 chrX 110929364 110929364 G A rs772039609 ALG13 0.003 0 0 2 3 0 0.005 0 1 0 0 0 Likely benign 9.137 155862 chr9 137707451 137707451 C T rs369945188 COL5A1 Synonymous SNV G1348G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.429 155863 chrX 112022425 112022425 G A rs148609725 AMOT Nonsynonymous SNV P986L 0.005 0.005 0 7 6 2 0.018 0 1 0 0 2 Likely benign 13.64 155864 chr11 48149491 48149491 G A rs61739179 PTPRJ Nonsynonymous SNV R418H 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 Likely benign 0.023 155865 chr11 66627469 66627469 C T LRFN4 Nonsynonymous SNV H571Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22 155866 chr9 139399813 139399813 G C NOTCH1 Nonsynonymous SNV A1512G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 155867 chrX 119004571 119004571 C T rs142871346 RNF113A Nonsynonymous SNV D336N 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 Benign 10.88 155868 chrX 122757060 122757060 G A THOC2 Nonsynonymous SNV P1193L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.58 155869 chr11 67267436 67267436 T C PITPNM1 Nonsynonymous SNV I338V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 155870 chrX 41554986 41554986 C A GPR34 Nonsynonymous SNV P34T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.002 155871 chr2 36583639 36583639 C T rs899474298 CRIM1 Synonymous SNV S68S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.76 155872 chr14 24898051 24898051 C T CBLN3 Synonymous SNV G70G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.95 155873 chr9 140358816 140358816 G A rs753714666 PNPLA7 Synonymous SNV S1019S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 155874 chrX 53276203 53276203 G A IQSEC2 Synonymous SNV S899S 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 11.99 155875 chrX 144906134 144906134 G C SLITRK2 Nonsynonymous SNV A731P 0 0 0 2 0 0 0.005 0 0 0 0 0 2.5 155876 chrX 54836486 54836486 T A MAGED2 Nonsynonymous SNV V126D 0.002 0 0 0 2 0 0 0 1 0 0 0 8.115 155877 chrX 54842023 54842023 G A rs376899197 MAGED2 Nonsynonymous SNV A577T 0.003 0 0 0 3 0 0 0 1 0 0 0 7.927 155878 chr9 140773612 140773612 - ACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCT CACNA1B 0 0 0.003 0 0 0 0 1 0 0 0 0 155879 chr9 140786702 140786702 A C rs556858513 LOC100133077 0 0 0.007 0 0 0 0 2 0 0 0 0 1.58 155880 chrX 152663788 152663805 CTCCTGCCTCACCTACAC - PNMA6E G168_G173del 0 0 0 1 0 0 0.003 0 0 0 0 0 155881 chr11 4944661 4944661 C G rs57920748 OR51G1 Nonsynonymous SNV Q303H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.621 155882 chr9 18950869 18950869 G A rs7036389 SAXO1 Synonymous SNV S35S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 15.02 155883 chr11 4944790 4944790 C T rs59534473 OR51G1 Synonymous SNV L260L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.534 155884 chrX 153171699 153171710 CGCCGCAGGGGA - rs782681085 AVPR2 R249_R252del 0 0 0.007 4 0 0 0.01 2 0 0 1 1 155885 chrX 153201016 153201016 T C RENBP Nonsynonymous SNV E364G 0 0 0 4 0 0 0.01 0 0 0 0 1 28 155886 chrX 75649236 75649236 A T rs142080557 MAGEE1 Nonsynonymous SNV S305C 0.002 0.003 0.014 0 2 1 0 4 1 0 2 0 6.43 155887 chr9 20933065 20933065 C G FOCAD Nonsynonymous SNV L1124V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 155888 chr10 6154308 6154308 C T rs12242912 RBM17 Synonymous SNV G280G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.39 155889 chr10 61833065 61833065 T C ANK3 Nonsynonymous SNV N2525S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 155890 chr11 5221076 5221076 A G rs61735483 OR51V1 Synonymous SNV I285I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 155891 chr11 5221233 5221233 G A rs7933549 OR51V1 Nonsynonymous SNV S233L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.81 155892 chr11 5221439 5221442 AAAG - rs150098602 OR51V1 F163Lfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 155893 chr11 5221449 5221449 C T rs61732434 OR51V1 Nonsynonymous SNV S161N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 155894 chr11 5248232 5248232 T A rs334 HBB Nonsynonymous SNV E7V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.277 155895 chr9 2643904 2643904 A G rs751924500 VLDLR Synonymous SNV V296V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.6 155896 chr10 64973978 64973978 G A rs41274068 JMJD1C Nonsynonymous SNV T431I 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 3.882 155897 chr2 54853209 54853209 C T rs200755126 SPTBN1 Synonymous SNV H481H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.1 155898 chr11 64055293 64055293 G T GPR137 Nonsynonymous SNV A170S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 155899 chr2 61441269 61441269 G T rs762987771 USP34 Synonymous SNV R2870R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 155900 chr1 1354495 1354495 T C rs141533546 ANKRD65 Nonsynonymous SNV I395M 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 9.697 155901 chr1 1354717 1354717 C G rs147239403 ANKRD65 Nonsynonymous SNV C141S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 8.371 155902 chr1 1354762 1354762 C G rs181085315 ANKRD65 Nonsynonymous SNV C126S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 4.574 155903 chr9 35561991 35561991 G A rs181880329 FAM166B Synonymous SNV I265I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.242 155904 chr1 1361736 1361736 G A rs72896277 TMEM88B Nonsynonymous SNV V77I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.6 155905 chr9 35739787 35739787 C T rs147443644 GBA2 Nonsynonymous SNV A474T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 18.96 155906 chr9 36147847 36147847 C T rs60088684 GLIPR2 Synonymous SNV V26V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 155907 chr2 70315126 70315126 A G rs148864700 PCBP1 Nonsynonymous SNV N84S 0.003 0 0.01 1 3 0 0.003 3 0 0 1 0 0.005 155908 chr14 58563636 58563638 TCC - rs762137652 ARMH4 E633del 0.005 0 0 2 6 0 0.005 0 0 0 0 0 155909 chr10 74671559 74671559 G A rs148833304 OIT3 Nonsynonymous SNV R251Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.1 155910 chr10 75532154 75532154 C T rs148202686 FUT11 Synonymous SNV A21A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.026 155911 chr10 75672049 75672049 A G rs142059320 PLAU Synonymous SNV P37P 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign/Likely benign 8.231 155912 chr10 115636725 115636725 T C rs200648554 NHLRC2 Synonymous SNV Y259Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 155913 chr2 74777384 74777384 C T rs141075927 LOXL3 Synonymous SNV T135T 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 12.26 155914 chr2 74787292 74787292 G A rs146997100 M1AP Stop gain R470X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 155915 chr2 80530867 80530867 C T rs137894458 LRRTM1 Synonymous SNV G26G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.7 155916 chr10 120789543 120789545 CCT - rs587777031 NANOS1 S83del 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 155917 chr9 80866948 80866948 A G rs138501486 CEP78 Synonymous SNV A399A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.7 155918 chr2 85922499 85922499 C T rs766427846 GNLY Nonsynonymous SNV R37C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.525 155919 chr9 8858043 8858043 C T rs118166957 PTPRD-AS1 0 0 0.024 0 0 0 0 7 0 0 2 0 8.136 155920 chr9 93983201 93983201 G A rs146636009 AUH Synonymous SNV L214L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 155921 chr10 90486553 90486553 G A rs55788049 LIPK Nonsynonymous SNV S36N 0.009 0.005 0.007 1 10 2 0.003 2 0 0 0 0 25.8 155922 chr9 95263216 95263216 A G rs34518968 ECM2 Nonsynonymous SNV V553A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.9 155923 chr2 97527524 97527524 G A rs770717248 SEMA4C Synonymous SNV C517C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.25 155924 chr10 93668646 93668646 C A rs200450389 FGFBP3 Synonymous SNV R27R 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 13.86 155925 chr9 97912370 97912370 C G rs1014112491 FANCC 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 155926 chr2 98920212 98920212 T C VWA3B Synonymous SNV Y813Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 155927 chr10 128974416 128974416 C T rs775136991 INSYN2A Nonsynonymous SNV A82T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.945 155928 chr2 100623151 100623151 C T rs150140967 AFF3 Synonymous SNV P297P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.31 155929 chr2 101086951 101086951 A G rs59029020 NMS Star tloss M1? 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 23.1 155930 chr14 77318791 77318791 C T rs150796689 LRRC74A Nonsynonymous SNV R271W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 155931 chr10 129903502 129903502 A G MKI67 Nonsynonymous SNV F1841S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 155932 chr1 15438828 15438839 TGTGTGTGTGTG - TMEM51-AS1 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 155933 chr10 98760934 98760934 C T rs547383528 SLIT1 Nonsynonymous SNV D1514N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 155934 chrX 117907882 117907882 C T rs144170222 IL13RA1 Synonymous SNV L350L 0.003 0 0.007 0 4 0 0 2 1 0 1 0 13.17 155935 chr12 107103150 107103150 G A RFX4 Synonymous SNV E198E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.95 155936 chrX 12739359 12739359 G C rs5979716 FRMPD4 Synonymous SNV G1559G 0 0 0.031 0 0 0 0 9 0 0 3 0 3.52 155937 chr10 99969156 99969156 A G rs766343555 R3HCC1L Nonsynonymous SNV R429G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 155938 chr2 112854694 112854694 G A TMEM87B Nonsynonymous SNV R393K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 155939 chr1 17294843 17294843 G A rs890021899 CROCC Nonsynonymous SNV R1669H 0 0 0 2 0 0 0.005 0 0 0 0 0 30 155940 chr10 134628364 134628364 G A rs140799172 CFAP46 Nonsynonymous SNV A2391V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.075 155941 chr11 76169329 76169329 T C EMSY Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.781 155942 chr10 134910543 134910543 G A rs149279537 ADGRA1 Synonymous SNV A23A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 155943 chr11 57080882 57080882 C T rs145672238 TNKS1BP1 Nonsynonymous SNV R427Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 155944 chr11 57373548 57373548 C T rs35788383 SERPING1 Synonymous SNV L251L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 12.2 155945 chr11 57466491 57466491 C T rs148944485 ZDHHC5 Nonsynonymous SNV P528L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24 155946 chr10 16526795 16526795 A T rs142960728 PTER Nonsynonymous SNV R138W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 155947 chr11 77921582 77921582 A G rs200603188 USP35 Nonsynonymous SNV N894S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 155948 chr12 11149779 11149779 G C rs771461748 TAS2R20 Synonymous SNV T232T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.137 155949 chrX 153283517 153283517 G C IRAK1 Nonsynonymous SNV F283L 0 0 0.007 0 0 0 0 2 0 0 1 0 6.706 155950 chr11 7982474 7982474 C A rs149957176 NLRP10 Nonsynonymous SNV D229Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 155951 chr2 131901988 131901988 C A rs13033992 PLEKHB2 Synonymous SNV I180I 0.011 0.008 0.01 6 13 3 0.015 3 0 0 0 0 6.196 155952 chrX 3019147 3019147 C T rs141074236 ARSF Synonymous SNV I329I 0 0 0.007 0 0 0 0 2 0 0 1 0 10.82 155953 chr11 5625800 5625800 G A rs57856328 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV E182K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.41 155954 chr11 8646324 8646324 C T rs202226370 TRIM66 Nonsynonymous SNV R776Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.99 155955 chr12 120597768 120597768 C T rs376608017 GCN1 Synonymous SNV P870P 0 0.005 0 0 0 2 0 0 0 0 0 0 15.81 155956 chrX 51149956 51149956 T A rs145281702 EZHIP Nonsynonymous SNV S30T 0 0 0.007 0 0 0 0 2 0 0 1 0 12.22 155957 chr2 152322536 152322536 C T rs748231523 RIF1 Nonsynonymous SNV R2168C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 155958 chr1 24134639 24134639 A G rs143823689 HMGCL Synonymous SNV L175L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.969 155959 chrX 57475003 57475003 C - FAAH2 Q386Kfs*18 0 0 0.007 0 0 0 0 2 0 0 1 0 155960 chrX 70524823 70524823 C T rs141038462 ITGB1BP2 Synonymous SNV N152N 0 0 0.007 0 0 0 0 2 0 0 1 0 12.75 155961 chr11 57097595 57097595 C T SSRP1 Nonsynonymous SNV G485S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.1 155962 chr11 61305723 61305723 C A SYT7 Synonymous SNV V319V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 155963 chr11 61730325 61730325 C T rs148060787 BEST1 Nonsynonymous SNV L480F 0.003 0.01 0 4 3 4 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.94 155964 chr12 123782617 123782617 G A SBNO1 Nonsynonymous SNV T1316I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 155965 chrY 14869153 14869153 G A rs752948344 USP9Y Nonsynonymous SNV R485H 0 0 0.007 0 0 0 0 2 0 0 1 0 25.8 155966 chr10 101603626 101603626 G A rs767290900 ABCC2 Nonsynonymous SNV R1271Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 155967 chr10 46965858 46965858 C T rs201126022 LOC102724488, SYT15 Nonsynonymous SNV V111M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 155968 chr12 102107955 102107955 A T CHPT1 Nonsynonymous SNV T121S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 155969 chr10 102286760 102286760 G A rs779843883 NDUFB8 Nonsynonymous SNV P95L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 155970 chr11 63671504 63671504 G A rs771286708 MARK2 Nonsynonymous SNV A521T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.07 155971 chr12 104697926 104697926 G A rs201074393 EID3 Nonsynonymous SNV E72K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 155972 chr11 1102090 1102090 C T rs72655352 MUC2 Nonsynonymous SNV P2576S 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 13.63 155973 chr12 104697927 104697927 A T rs201994320 EID3 Nonsynonymous SNV E72V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.3 155974 chr10 47087251 47087251 C T rs139917788 NPY4R, NPY4R2 Synonymous SNV A156A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.53 155975 chr2 170761799 170761799 T C rs912139810 UBR3 Synonymous SNV F547F 0 0 0 1 0 0 0.003 0 0 0 0 0 4.134 155976 chr12 106461190 106461190 G A rs1038316952 NUAK1 Nonsynonymous SNV S459L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 155977 chr11 64697971 64697971 G A rs765975288 PPP2R5B Synonymous SNV A267A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 155978 chr15 42144835 42144835 T G rs891437946 SPTBN5 Synonymous SNV T3482T 0.004 0 0 0 5 0 0 0 0 0 0 0 1.399 155979 chr2 176987525 176987525 A G rs370320649 HOXD9 Nonsynonymous SNV K10R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 155980 chr1 35370330 35370330 G A DLGAP3 Nonsynonymous SNV P219S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.54 155981 chr11 6413305 6413305 A G rs761144309 SMPD1 Nonsynonymous SNV N337S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 17.91 155982 chr2 179399964 179399964 T A rs200675195 TTN Nonsynonymous SNV D24728V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 21.7 155983 chr2 179470242 179470242 A G rs369678018 TTN Nonsynonymous SNV L8862P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.9 155984 chr12 109848513 109848513 C A rs773672275 MYO1H Nonsynonymous SNV F434L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 155985 chr11 65479757 65479757 C G rs371801645 KAT5 Nonsynonymous SNV P7A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 155986 chr10 54531318 54531318 C T MBL2 Synonymous SNV E26E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.445 155987 chr11 118899135 118899135 C A rs202137454 SLC37A4 Synonymous SNV G50G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.05 155988 chr12 15784542 15784542 A T rs34393715 EPS8 Synonymous SNV P626P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.326 155989 chr2 179751485 179751485 T G rs114129666 CCDC141 Nonsynonymous SNV Q507H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 21.2 155990 chr11 65629482 65629482 G A rs148465534 MUS81 Nonsynonymous SNV R139Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.8 155991 chr11 64884183 64884183 G C ZNHIT2 Nonsynonymous SNV Q315E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.041 155992 chr11 119155731 119155731 C T rs373989524 CBL Nonsynonymous SNV P495L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 155993 chr11 61914218 61914218 G A rs780288058 INCENP Nonsynonymous SNV R679Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 155994 chr11 65088659 65088659 C T CDC42EP2 Nonsynonymous SNV P97L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.67 155995 chr15 45388260 45388260 T C DUOX2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 155996 chr11 6238947 6238947 T A FAM160A2 Synonymous SNV A623A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.467 155997 chr11 6592471 6592471 C T rs139951286 DNHD1 Nonsynonymous SNV P4577S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.98 155998 chr12 27543035 27543035 T G rs769478725 ARNTL2 Nonsynonymous SNV L224W 0.003 0.021 0.003 1 3 8 0.003 1 0 0 0 0 25 155999 chr10 124897109 124897109 G A HMX3 Synonymous SNV E312E 0 0 0.007 0 0 0 0 2 0 0 0 0 10.29 156000 chr11 66100170 66100170 G C rs141977246 RIN1 Synonymous SNV T615T 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 Benign 8.233 156001 chr11 67803806 67803806 C T rs149201273 NDUFS8 Synonymous SNV C153C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.91 156002 chr11 67821512 67821512 G C rs140389865 CHKA Nonsynonymous SNV D421E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.61 156003 chr11 64597529 64597529 C A rs751661902 CDC42BPG Synonymous SNV V1127V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 156004 chr11 6898668 6898668 C T OR10A4 Stop gain Q264X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 156005 chr2 198288565 198288565 G A rs148811717 SF3B1 Synonymous SNV Y54Y 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 7.838 156006 chr12 40704263 40704263 G A rs111501952 LRRK2 Nonsynonymous SNV V1450I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 18.59 156007 chr12 123679052 123679052 T G MPHOSPH9 Nonsynonymous SNV N708H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 156008 chr11 68575086 68575086 G A rs61731903 CPT1A Nonsynonymous SNV T101M 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 Likely benign 13.44 156009 chr10 7627927 7627927 A G ITIH5 Nonsynonymous SNV S135P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.742 156010 chr12 41966684 41966684 A T PDZRN4 Synonymous SNV T443T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 156011 chr12 124103253 124103253 C T rs201387635 DDX55 Nonsynonymous SNV A401V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.498 156012 chr10 134014449 134014449 A G rs115891804 DPYSL4 Nonsynonymous SNV I358V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 156013 chr12 44191570 44191570 G C TWF1 Nonsynonymous SNV R184G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.49 156014 chr1 53153417 53153417 C G COA7 Nonsynonymous SNV G224A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 156015 chr11 72414021 72414021 G A rs142506020 ARAP1 Nonsynonymous SNV T393M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24.2 156016 chr15 65553256 65553256 T C rs1027374456 PARP16 Nonsynonymous SNV Y152C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.5 156017 chr11 66249865 66249865 G A rs202184719 DPP3 Nonsynonymous SNV R65H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 156018 chr12 132237796 132237796 A G rs140765111 SFSWAP Nonsynonymous SNV N404D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.077 156019 chr12 49308242 49308242 G A CCDC65 Nonsynonymous SNV S119N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 156020 chr11 73021345 73021345 G C ARHGEF17 Nonsynonymous SNV M554I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.7 156021 chr12 49310815 49310815 T C rs777553497 CCDC65 Nonsynonymous SNV M35T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 156022 chr2 213886760 213886760 C T rs141790172 IKZF2 Synonymous SNV Q223Q 0 0 0 3 0 0 0.008 0 0 0 0 1 13.18 156023 chr11 13514007 13514007 A G rs1013619022 PTH Nonsynonymous SNV L98P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 156024 chr11 1467085 1467085 G T rs779818282 BRSK2 Nonsynonymous SNV G392C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156025 chr10 23728796 23728796 G T rs774765142 OTUD1 Nonsynonymous SNV G137V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.158 156026 chr10 26459407 26459407 G A rs770255390 MYO3A Nonsynonymous SNV V1113I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 6.426 156027 chr12 21015348 21015348 T G rs140353351 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV C134G 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 156028 chr10 3178723 3178723 C T rs34180069 PFKP Synonymous SNV D502D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.69 156029 chr12 52827818 52827818 T A rs298109 KRT75 Nonsynonymous SNV R91W 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 156030 chr12 33559939 33559939 G A rs770240151 SYT10 Nonsynonymous SNV H288Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.5 156031 chr2 228162546 228162546 G A rs201841428 COL4A3 Nonsynonymous SNV R1241H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.64 156032 chr10 47096780 47096780 G A rs4246922 LINC00842 0 0 0.007 0 0 0 0 2 0 0 1 0 2.31 156033 chr2 228176575 228176592 AAAAGACACTGAAGCTAA - rs1064792902 COL4A3 H1670delinsQQNCYFSS 0 0 0 1 0 0 0.003 0 0 0 0 0 156034 chr11 775111 775111 G T rs779542837 GATD1 Nonsynonymous SNV F32L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 156035 chr10 50165315 50165315 G A rs201559690 WDFY4 Nonsynonymous SNV G2707R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 156036 chr1 89726411 89726411 G A rs61729738 GBP5 Synonymous SNV N579N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.792 156037 chr12 5603602 5603602 G C rs11063713 NTF3 Synonymous SNV R74R 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 1.871 156038 chr12 5603607 5603607 G A rs1805149 NTF3 Nonsynonymous SNV G76E 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Likely benign 0.47 156039 chr15 90210919 90210919 C T rs3743373 PLIN1 Nonsynonymous SNV E293K 0.003 0 0 0 3 0 0 0 0 0 0 0 18.24 156040 chr2 234183383 234183383 G C ATG16L1 Nonsynonymous SNV G142R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.73 156041 chr11 83691644 83691644 T C rs995489298 DLG2 Nonsynonymous SNV I165V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 156042 chr12 104337023 104337023 G A rs141744749 HSP90B1 Nonsynonymous SNV E606K 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 156043 chr11 85366718 85366718 T C rs750349230 TMEM126A Synonymous SNV L51L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.466 156044 chr11 85418484 85418484 G A rs112099986 SYTL2 Synonymous SNV N88N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.31 156045 chr11 85419080 85419080 C T rs112835953 SYTL2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.867 156046 chr11 36483955 36483955 C T rs557394432 PRR5L Nonsynonymous SNV A131V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 7.733 156047 chr11 102464171 102464171 T G rs775319636 MMP20 Nonsynonymous SNV S416R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 156048 chr12 108134781 108134781 G A rs145990889 PRDM4 Synonymous SNV F622F 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.18 156049 chr10 70645632 70645632 T C rs140568512 STOX1 Synonymous SNV L694L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 156050 chr10 71332754 71332754 C G rs146974265 NEUROG3 Nonsynonymous SNV E16Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.174 156051 chr12 51236861 51236861 G A rs763402773 TMPRSS12 Synonymous SNV A38A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.679 156052 chr16 10841092 10841092 G A rs763737998 NUBP1 Nonsynonymous SNV A73T 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 156053 chr11 107682431 107682431 C T rs758343389 SLC35F2 Nonsynonymous SNV V126I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 156054 chr11 108058863 108058863 T C NPAT Synonymous SNV K200K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.799 156055 chr11 108160480 108160480 T G rs138327406 ATM Nonsynonymous SNV F1463C 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 156056 chr12 65269273 65269273 G C TBC1D30 Nonsynonymous SNV R640T 0 0.005 0 0 0 2 0 0 0 0 0 0 1.219 156057 chr10 7290605 7290605 C T rs117741182 SFMBT2 Nonsynonymous SNV A293T 0.014 0.016 0.01 0 16 6 0 3 0 0 0 0 Benign 25.4 156058 chr2 242146997 242146997 T C rs745909935 ANO7 Nonsynonymous SNV L330P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 156059 chr1 110655572 110655572 C G rs35483972 UBL4B Nonsynonymous SNV A139G 0.002 0 0 5 2 0 0.013 0 0 0 0 0 11.73 156060 chr16 1270392 1270392 T A rs767461657 CACNA1H Nonsynonymous SNV W2148R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Likely benign 0.002 156061 chr2 242814709 242814709 C T rs368134546 RTP5 Synonymous SNV S334S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 9.425 156062 chr10 77163004 77163004 G C ZNF503-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 156063 chr12 6729771 6729771 A G rs968857081 LPAR5 Nonsynonymous SNV F215S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.6 156064 chr16 1435279 1435279 A G rs971619680 UNKL Synonymous SNV T398T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.033 156065 chr10 81066093 81066093 G A rs780008519 ZMIZ1 Nonsynonymous SNV S887N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 156066 chr12 117705934 117705934 T A rs79487279 NOS1 Nonsynonymous SNV M283L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.5 156067 chr12 53227941 53227941 G A KRT79 Nonsynonymous SNV S35L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.7 156068 chr12 53242052 53242052 C T rs11170288 KRT78 Nonsynonymous SNV E2K 0.004 0 0.01 0 5 0 0 3 0 0 0 0 4.538 156069 chr1 117061873 117061873 G A rs150868128 CD58 Synonymous SNV D241D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.147 156070 chr16 1592036 1592036 C T rs201327024 TMEM204 Nonsynonymous SNV P132L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.8 156071 chr1 119958100 119958100 C T rs139191056 HSD3B2 Nonsynonymous SNV R20C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 19.46 156072 chr10 93999956 93999956 C T rs34021939 CPEB3 Nonsynonymous SNV S51N 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 23.1 156073 chr11 118464349 118464349 A G ARCN1 Nonsynonymous SNV I305V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.83 156074 chr1 144921906 144921906 A T rs145150366 PDE4DIP Nonsynonymous SNV C538S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.001 156075 chr12 119568494 119568494 G A rs114691929 SRRM4 Nonsynonymous SNV R209Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 156076 chr12 55795078 55795078 A - rs778685978 OR6C65 M256Cfs*3 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 156077 chr12 112622205 112622205 G A HECTD4 Nonsynonymous SNV P3532L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 156078 chr12 113307569 113307569 A T RPH3A Nonsynonymous SNV S139C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.249 156079 chr12 56504991 56504991 T C rs74519150 PA2G4 Synonymous SNV F321F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.153 156080 chr12 56822099 56822099 C A rs141152531 TIMELESS Nonsynonymous SNV R499L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 156081 chr12 57005679 57005679 A T rs2230579 BAZ2A Nonsynonymous SNV V496E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.376 156082 chr10 99330101 99330101 G A rs150033577 UBTD1 Nonsynonymous SNV D169N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 156083 chr3 14763289 14763289 C T rs147778531 C3orf20 Nonsynonymous SNV R400W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 156084 chr11 12316010 12316010 C T rs147786207 MICALCL Synonymous SNV R344R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 156085 chr12 57596209 57596209 C T rs766415186 LRP1 Nonsynonymous SNV R3534C 0.003 0 0 0 3 0 0 0 0 0 0 0 29.6 156086 chr12 57598512 57598512 G A rs151301245 LRP1 Nonsynonymous SNV G3725E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 156087 chr3 16306277 16306277 T C rs547736683 DPH3 Nonsynonymous SNV K36R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.69 156088 chr12 57910726 57910726 C T DDIT3 Nonsynonymous SNV E149K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156089 chr16 2260271 2260271 C T rs761445097 BRICD5 Synonymous SNV Q64Q 0.003 0 0 0 4 0 0 0 0 0 0 0 8.241 156090 chr11 1016978 1016978 - AGAC MUC6 Frameshift insertion H1942Sfs*159 0 0 0.041 0 0 0 0 12 0 0 0 0 156091 chr12 122091051 122091051 G A MORN3 Nonsynonymous SNV A193V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 156092 chr16 2578578 2578578 C G AMDHD2 Nonsynonymous SNV L330V 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.313 156093 chr12 65448980 65448980 A G rs1001287593 WIF1 Synonymous SNV P312P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.372 156094 chr16 2946697 2946697 A T rs61223280 FLYWCH2 Nonsynonymous SNV T83S 0.007 0.008 0.003 2 8 3 0.005 1 0 0 0 0 16.77 156095 chr16 29675114 29675114 C T rs2229653 SPN Nonsynonymous SNV T22I 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 0.007 156096 chr13 103384090 103384090 T C CCDC168 Nonsynonymous SNV I6319M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.536 156097 chr16 3073856 3073856 C T HCFC1R1 Synonymous SNV L29L 0.004 0 0 0 5 0 0 0 0 0 0 0 7.214 156098 chr12 13215818 13215818 A G rs371903376 FAM234B Nonsynonymous SNV N254S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.799 156099 chr13 110435008 110435008 G T IRS2 Synonymous SNV R1131R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.032 156100 chr12 71158453 71158453 G A rs144705265 PTPRR Nonsynonymous SNV R43C 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Benign 34 156101 chr12 132335685 132335685 G A rs116928219 MMP17 Nonsynonymous SNV V560I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 156102 chr12 7473380 7473380 C T rs372999373 ACSM4 Synonymous SNV L327L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 156103 chr16 31336038 31336038 T C rs754938679 ITGAM Synonymous SNV L742L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.027 156104 chr12 278264 278264 G A rs532156772 IQSEC3 Synonymous SNV S716S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.01 156105 chr12 76784237 76784237 G C OSBPL8 Nonsynonymous SNV T352S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 156106 chr11 13441158 13441158 T C rs34185489 BTBD10 Nonsynonymous SNV T97A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.631 156107 chr12 25297479 25297479 T C rs147401689 CASC1 Synonymous SNV T209T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.05 156108 chr3 46449585 46449585 G C CCRL2 Synonymous SNV T17T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.193 156109 chr3 46449781 46449781 C T rs750187813 CCRL2 Nonsynonymous SNV R83C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 156110 chr3 46488815 46488815 G A rs149744272 LTF Synonymous SNV V385V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 12.39 156111 chr16 4911073 4911073 C T rs368670957 UBN1 Synonymous SNV P360P 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 17.4 156112 chr11 18505437 18505437 T C TSG101 Nonsynonymous SNV T275A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 156113 chr3 47476516 47476516 A G rs200182837 SCAP Synonymous SNV P78P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.348 156114 chr3 47888777 47888777 C T rs200182024 DHX30 Synonymous SNV C648C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 156115 chr12 25054804 25054804 A G rs769311417 BCAT1 Nonsynonymous SNV C8R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 156116 chr12 95604920 95604920 T C rs201735625 FGD6 Nonsynonymous SNV K47R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.54 156117 chr16 50750582 50750582 - T rs1064793385 NOD2 0.009 0.005 0.003 2 11 2 0.005 1 0 0 0 0 156118 chr3 48789063 48789063 C T rs199924221 PRKAR2A Synonymous SNV V368V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.9 156119 chr11 118899102 118899102 A G rs34123220 SLC37A4 Synonymous SNV A61A 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 0.301 156120 chr11 119058667 119058667 C A rs147147532 PDZD3 Nonsynonymous SNV Q226K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.15 156121 chr16 56918001 56918001 G A rs387907471 SLC12A3 Synonymous SNV A570A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 8.161 156122 chr11 119369595 119369595 A G rs147566214 USP2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.628 156123 chr3 50614608 50614608 G A rs772791134 HEMK1 Synonymous SNV Q180Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.68 156124 chr1 170511655 170511655 T C rs759722411 GORAB Nonsynonymous SNV V173A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.6 156125 chr3 52397016 52397016 C G rs368364427 DNAH1 Synonymous SNV L1700L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.77 156126 chr13 37393737 37393737 C G RFXAP Synonymous SNV G81G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.78 156127 chr11 56468586 56468586 C T rs779516464 OR9G1, OR9G9 Synonymous SNV S241S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.357 156128 chr12 48104614 48104614 C T rs558958403 ENDOU Nonsynonymous SNV A339T 0.003 0 0 0 3 0 0 0 0 0 0 0 35 156129 chr12 48105415 48105415 C T rs138545744 ENDOU 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 156130 chr13 42623010 42623010 C T DGKH Nonsynonymous SNV P34L 0 0.005 0 0 0 2 0 0 0 0 0 0 26.3 156131 chr12 49934802 49934802 C A KCNH3 Nonsynonymous SNV A6D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 156132 chr16 683073 683073 G A rs975921568 WFIKKN1 Synonymous SNV K221K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.522 156133 chr11 58125768 58125768 G A rs200982548 OR5B17 Stop gain R259X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 156134 chr3 58416513 58416513 C T PDHB Nonsynonymous SNV V136I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 156135 chr3 58417676 58417676 A G rs11542399 PDHB Synonymous SNV D26D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.466 156136 chr16 70819670 70819670 T C rs145208697 VAC14 Nonsynonymous SNV I120V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 22.5 156137 chr3 66433522 66433522 G A rs202007714 LRIG1 Nonsynonymous SNV T792M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 156138 chr3 66433551 66433551 G A rs112700187 LRIG1 Synonymous SNV P782P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.937 156139 chr3 66460651 66460651 G T rs142283895 LRIG1 Synonymous SNV L279L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.55 156140 chr13 60485919 60485919 A G rs35579086 DIAPH3 Nonsynonymous SNV F510L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign/Likely benign 23.4 156141 chr11 126858392 126858392 A G rs670637 MIR3167 0 0 0.054 0 0 0 0 16 0 0 6 0 6.044 156142 chr16 71663339 71663339 G C MARVELD3 Nonsynonymous SNV Q179H 0.003 0 0 0 4 0 0 0 0 0 0 0 24.7 156143 chr11 128332292 128332292 G A rs139627540 ETS1 Synonymous SNV H214H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.673 156144 chr11 130297690 130297690 T G ADAMTS8 Synonymous SNV G164G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 156145 chr13 79209267 79209267 C T OBI1 Nonsynonymous SNV V206I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 156146 chr3 98189006 98189006 G A OR5K1 Nonsynonymous SNV E196K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 156147 chr12 53895967 53895967 T C rs746713420 TARBP2 Synonymous SNV T53T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 156148 chr12 52754652 52754652 C T rs151275843 KRT85 Synonymous SNV S291S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 156149 chr1 196967422 196967422 G C rs111327589 CFHR5 Nonsynonymous SNV V379L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 0.02 156150 chr1 197009702 197009702 C T rs142886126 F13B Nonsynonymous SNV M634I 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Uncertain significance 13.6 156151 chr16 75286131 75286131 A G rs74024754 BCAR1 0.004 0 0 2 5 0 0.005 0 0 0 0 0 5.658 156152 chr11 15199912 15199912 G T rs199801018 INSC Nonsynonymous SNV K166N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 156153 chr16 75662488 75662488 G A rs143267922 KARS1 Synonymous SNV L558L 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 9.227 156154 chr11 16877419 16877419 C T rs149078871 PLEKHA7 Synonymous SNV P116P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 156155 chr3 108288290 108288290 G A rs199957351 CIP2A Synonymous SNV D353D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 10.67 156156 chr11 61015916 61015916 A C rs138245987 PGA5 Nonsynonymous SNV I228L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.45 156157 chr12 56089327 56089327 G A rs749679578 ITGA7 Nonsynonymous SNV T213M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 156158 chr12 56478964 56478964 C T rs373473538 ERBB3 Synonymous SNV T140T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.659 156159 chr1 201958076 201958076 C T rs142985914 RNPEP Synonymous SNV P33P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.55 156160 chr12 53589203 53589203 A T ITGB7 Nonsynonymous SNV S372R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 156161 chr12 56868451 56868451 G A rs145926460 GLS2 Synonymous SNV L102L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.67 156162 chr11 62296450 62296450 C T rs201325865 AHNAK Synonymous SNV P1813P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.14 156163 chr12 57485455 57485455 C T rs2233271 NAB2 Nonsynonymous SNV P211S 0.007 0.01 0.003 2 8 4 0.005 1 0 0 0 0 Benign 18.58 156164 chr14 104182267 104182267 T A rs376966619 ZFYVE21 Nonsynonymous SNV F30Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 156165 chr11 2161777 2161777 G A rs989998906 IGF2-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 8.246 156166 chr13 48654089 48654089 T C rs149158920 MED4 Synonymous SNV P131P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.88 156167 chr11 63764669 63764669 G A OTUB1 Nonsynonymous SNV E191K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 156168 chr13 52548158 52548158 T C rs199807461 ATP7B Nonsynonymous SNV T400A 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.005 156169 chr11 248826 248826 G A rs151305149 PSMD13 Nonsynonymous SNV G209S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 156170 chr13 53035897 53035897 T A rs74085795 CKAP2 Synonymous SNV T313T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 5.127 156171 chr13 53036553 53036553 A G rs74085799 CKAP2 Nonsynonymous SNV N387D 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.012 156172 chr13 53250409 53250409 G A rs74088624 SUGT1 Synonymous SNV K224K 0.003 0 0 0 3 0 0 0 0 0 0 0 13.14 156173 chr11 64367882 64367882 C T rs61743169 SLC22A12 Synonymous SNV G335G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 10.23 156174 chr12 57556220 57556220 G C rs34714459 LRP1 Nonsynonymous SNV A775P 0.003 0 0.01 0 3 0 0 3 0 0 0 0 8.893 156175 chr12 66773075 66773075 C T rs145115262 GRIP1 Nonsynonymous SNV R817Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 23.5 156176 chr11 64757216 64757220 CAGCT - rs751759218 BATF2 E45Gfs*11 0.006 0.008 0 0 7 3 0 0 0 0 0 0 156177 chr12 57637667 57637667 C G rs61747067 STAC3 Synonymous SNV A155A 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Benign/Likely benign 14.4 156178 chr12 57704109 57704109 T C rs11832661 R3HDM2 Nonsynonymous SNV T35A 0.003 0 0.02 1 3 0 0.003 6 0 0 0 0 12.8 156179 chr14 20841489 20841489 G A TEP1 Nonsynonymous SNV L2144F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 156180 chr12 57849399 57849399 C T rs140437272 INHBE Nonsynonymous SNV P27L 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 24.5 156181 chr12 57919848 57919848 C T MBD6 Nonsynonymous SNV P366L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 156182 chr14 20898585 20898585 C T rs45448391 KLHL33 Nonsynonymous SNV A84T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.29 156183 chr14 20942698 20942698 C T PNP Synonymous SNV G83G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.72 156184 chr11 65088864 65088864 G A rs140875363 CDC42EP2 Synonymous SNV P165P 0.006 0.008 0 0 7 3 0 0 0 0 0 0 2.777 156185 chr3 124457020 124457020 G A UMPS Nonsynonymous SNV E306K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 156186 chr11 65403197 65403197 C T rs565071702 PCNX3 Synonymous SNV H1794H 0.006 0.008 0 0 7 3 0 0 0 0 0 0 13.06 156187 chr12 64858197 64858197 C G TBK1 Synonymous SNV A104A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 156188 chr14 102514206 102514206 C T rs773232010 DYNC1H1 Synonymous SNV D4353D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.37 156189 chr3 126916036 126916036 G A rs140075011 C3orf56 Nonsynonymous SNV V170I 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 Benign 0.008 156190 chr3 127396573 127396573 C T rs35976576 ABTB1 Stop gain R164X 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 36 156191 chr11 65655506 65655506 G A FIBP Synonymous SNV R61R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 11.9 156192 chr12 7053022 7053022 C - RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 156193 chr3 131261433 131261433 C T rs779283179 CPNE4 Nonsynonymous SNV V521I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 156194 chr12 88380137 88380137 A G rs150597748 C12orf50 Nonsynonymous SNV W253R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 156195 chr14 105349141 105349141 C T rs190134672 CEP170B Synonymous SNV D113D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 156196 chr17 10351288 10351288 T A rs201268444 MYH4 Synonymous SNV T1604T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.164 156197 chr12 89919518 89919518 C T rs576930281 POC1B-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.76 156198 chr12 72021657 72021657 T A ZFC3H1 Nonsynonymous SNV D1335V 0.003 0 0 0 3 0 0 0 0 0 0 0 28.4 156199 chr14 105397270 105397270 C A rs143703446 PLD4 Synonymous SNV A310A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.32 156200 chr17 11648299 11648299 C T rs143732515 DNAH9 Synonymous SNV P2099P 0.008 0.003 0.003 2 9 1 0.005 1 0 0 0 0 14.36 156201 chr3 135870750 135870750 C G MSL2 Nonsynonymous SNV G251R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 156202 chr11 48157717 48157717 C G rs199862481 PTPRJ Nonsynonymous SNV S581C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.379 156203 chr14 20665690 20665690 T C OR11G2 Nonsynonymous SNV F66L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 156204 chr12 95927734 95927734 C T rs144639311 USP44 Nonsynonymous SNV R100H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 156205 chr12 93244948 93244948 C T rs139059134 EEA1 Nonsynonymous SNV R246Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 156206 chr12 95488438 95488438 G A rs377183623 FGD6 Nonsynonymous SNV A1177V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 156207 chr12 96180885 96180885 C T rs7971224 NTN4 Synonymous SNV P139P 0.003 0.008 0.007 1 3 3 0.003 2 0 0 0 0 Benign 15.3 156208 chr14 23517523 23517523 G C rs150958098 CDH24 Nonsynonymous SNV A671G 0.006 0.005 0.01 3 7 2 0.008 3 0 0 0 0 16.88 156209 chr12 96429226 96429226 C A rs2228060 LTA4H Synonymous SNV L24L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 20.8 156210 chr11 76093018 76093018 G A rs542528591 GVQW3 Nonsynonymous SNV R49K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 156211 chr11 76507422 76507422 G A rs139836879 TSKU Synonymous SNV P254P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.29 156212 chr14 52520551 52520551 C T rs754879421 NID2 Nonsynonymous SNV R392K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.174 156213 chr14 52955126 52955126 C T TXNDC16 Nonsynonymous SNV E350K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.94 156214 chr3 183017965 183017965 T A rs2293203 MCF2L2 Nonsynonymous SNV Q378L 0.007 0.005 0.024 6 8 2 0.015 7 0 0 1 0 22.1 156215 chr1 236761231 236761231 T C rs142578249 HEATR1 Nonsynonymous SNV K184E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.7 156216 chr14 57700585 57700585 T G rs35064097 EXOC5 Nonsynonymous SNV N244T 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 12.94 156217 chr13 103386594 103386594 T C rs912595390 CCDC168 Nonsynonymous SNV K5485E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.6 156218 chr13 23912495 23912497 TCT - rs767077186 SACS R1693del 0.001 0 0 0 1 0 0 0 0 0 0 0 156219 chr13 103400053 103400053 G A rs192382700 CCDC168 Synonymous SNV A998A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 2.376 156220 chr3 183858406 183858406 C T rs149507492 EIF2B5 Synonymous SNV V348V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.14 156221 chr11 812608 812608 T C rs759134788 RPLP2 Synonymous SNV P82P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.84 156222 chr14 31570520 31570520 G A rs191027721 HECTD1 Synonymous SNV L2521L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.617 156223 chr11 85711802 85711802 A C PICALM Synonymous SNV L346L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.023 156224 chr11 57576780 57576780 G T rs376307021 CTNND1 Synonymous SNV L652L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.917 156225 chr11 57885990 57885990 C G rs78218902 OR9I1 Nonsynonymous SNV Q309H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.91 156226 chr14 67578622 67578622 A G GPHN Synonymous SNV P453P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.633 156227 chr13 20426264 20426264 T C ZMYM5 Synonymous SNV L19L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 156228 chr13 21086652 21086652 T C rs201748334 CRYL1 Nonsynonymous SNV S27G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.42 156229 chr11 92901328 92901328 C T rs749692751 SLC36A4 Nonsynonymous SNV G49R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 156230 chr1 248343498 248343498 C T OR2M2 Nonsynonymous SNV L71F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.32 156231 chr14 73989385 73989385 G A rs145939433 HEATR4 Nonsynonymous SNV R158W 0 0.003 0 0 0 1 0 0 0 0 0 0 9.52 156232 chr14 55369368 55369368 G A GCH1 Nonsynonymous SNV P5L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.95 156233 chr3 195595137 195595137 G A TNK2 Nonsynonymous SNV P695S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.08 156234 chr11 60511263 60511283 CCCTGTCAACACCACCACCAG - rs554966172 MS4A18 T342_N348del 0.001 0 0.01 0 1 0 0 3 0 0 0 0 156235 chr14 77685844 77685844 G A rs576313695 TMEM63C Nonsynonymous SNV V52I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 156236 chr13 52345572 52345572 G A rs371437952 DHRS12 Nonsynonymous SNV P207S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.827 156237 chr12 101603543 101603543 G A rs61738792 SLC5A8 Synonymous SNV I28I 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Benign 15.81 156238 chr14 77746777 77746777 A G rs146307965 POMT2 Synonymous SNV N561N 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign/Likely benign 9.25 156239 chr17 36522214 36522214 C T rs751329713 SOCS7 Nonsynonymous SNV H433Y 0.005 0 0 2 6 0 0.005 0 0 0 0 0 18.13 156240 chr17 37627846 37627846 T C rs766169590 CDK12 Synonymous SNV S587S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.519 156241 chr17 37873699 37873699 G A rs766029214 ERBB2 Nonsynonymous SNV A622T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 10.07 156242 chr13 41704887 41704887 T C rs61741735 KBTBD6 Synonymous SNV E587E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.311 156243 chr4 2460911 2460911 T G rs1054676065 CFAP99 Nonsynonymous SNV C461G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.883 156244 chr12 106641195 106641195 G A CKAP4 Synonymous SNV S145S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 156245 chr13 39591648 39591648 A G PROSER1 Nonsynonymous SNV I233T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.725 156246 chr14 67671736 67671736 T C rs187950131 FAM71D Nonsynonymous SNV I281T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.005 156247 chr4 4436548 4436548 C T rs150118942 STX18 Nonsynonymous SNV R235H 0 0 0 1 0 0 0.003 0 0 0 0 0 17.64 156248 chr11 62327590 62327590 C G EEF1G Nonsynonymous SNV S369T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 156249 chr13 42876167 42876167 T C rs540769010 AKAP11 Synonymous SNV N1095N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.027 156250 chr12 109617783 109617783 A G rs145285048 ACACB Nonsynonymous SNV Y570C 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 156251 chr13 52534390 52534396 AGCATAT - rs779904655 ATP7B Stop gain Y670* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 156252 chr4 5975566 5975566 G T C4orf50 Synonymous SNV A1129A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.79 156253 chr11 5905544 5905544 C T rs760560993 OR52E4 Nonsynonymous SNV H8Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 156254 chr12 110778611 110778611 C T ATP2A2 Nonsynonymous SNV R637C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 156255 chr13 53603158 53603158 G A rs751659629 OLFM4 Nonsynonymous SNV G63R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.077 156256 chr14 96797775 96797775 T C rs201230411 ATG2B Synonymous SNV S556S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 3.098 156257 chr11 63487859 63487859 G A rs780710253 RTN3 Nonsynonymous SNV V517M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 156258 chr14 99641915 99641915 - GGGCGGCGTGCCGCCAGGGGGCAT BCL11B P347_P348insMPPGGTPP 0 0.003 0 0 0 1 0 0 0 0 0 0 156259 chr4 8214542 8214542 C G SH3TC1 Nonsynonymous SNV A45G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.78 156260 chr2 26677616 26677616 A T rs202097155 DRC1 Nonsynonymous SNV Q674L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Likely benign 0.136 156261 chr13 52715175 52715175 C T NEK3 Nonsynonymous SNV G303E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 156262 chr14 74411509 74411509 C T rs766421138 FAM161B Nonsynonymous SNV G152S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.286 156263 chr11 6048702 6048702 A G rs142561750 OR56A1 Nonsynonymous SNV I78T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 18.06 156264 chr14 75139595 75139595 T G rs754333648 AREL1 Nonsynonymous SNV H454P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 156265 chr4 10447910 10447910 C T rs138947344 ZNF518B Nonsynonymous SNV G15S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.77 156266 chr15 102202004 102202006 ATC - TARS3 D661del 0 0.003 0 0 0 1 0 0 0 0 0 0 156267 chr4 13371584 13371584 A G rs61758767 RAB28 Synonymous SNV I193I 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Benign 19.9 156268 chr11 64668481 64668481 G C ATG2A Synonymous SNV G1393G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.643 156269 chr11 64673303 64673303 G C rs746493893 ATG2A Nonsynonymous SNV D1086E 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 156270 chr11 61110095 61110095 A C rs769217531 TKFC Nonsynonymous SNV N247T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.65 156271 chr14 76638238 76638238 C T rs35397460 GPATCH2L Synonymous SNV F260F 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 12.5 156272 chr14 77318725 77318725 A G LRRC74A Nonsynonymous SNV T249A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.536 156273 chr11 61323614 61323614 C T rs142606373 SYT7 Nonsynonymous SNV V33I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 156274 chr4 22389464 22389464 T C rs142653146 ADGRA3 Nonsynonymous SNV Q1277R 0.001 0.005 0.007 3 1 2 0.008 2 0 0 0 0 Uncertain significance 12.17 156275 chr15 31334372 31334372 G A rs569549766 TRPM1 Synonymous SNV D640D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.416 156276 chr14 102718279 102718279 A G MOK Nonsynonymous SNV C8R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.5 156277 chr14 100069940 100069940 C T rs189673537 CCDC85C Synonymous SNV E119E 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 7.601 156278 chr11 61914295 61914309 GAGCAGGAGCGGCGC - rs780338467 INCENP R709_R713del 0 0 0.003 0 0 0 0 1 0 0 0 0 156279 chr15 33955124 33955124 G A rs148818748 RYR3 Nonsynonymous SNV R1798Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 21.6 156280 chr14 102515837 102515837 G C DYNC1H1 Nonsynonymous SNV W4478S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156281 chr17 41859182 41859182 A G CFAP97D1 Nonsynonymous SNV K79R 0.005 0 0 0 6 0 0 0 0 0 0 0 9.487 156282 chr14 21162157 21162157 G A rs763580010 ANG Nonsynonymous SNV R145H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.2 156283 chr4 39911877 39911877 C T rs187463902 PDS5A Synonymous SNV A358A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.9 156284 chr11 6340750 6340750 C T rs773881423 CAVIN3 Synonymous SNV E143E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 156285 chr4 40339286 40339286 C G rs114307446 CHRNA9 Synonymous SNV A90A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.94 156286 chr11 63487807 63487807 T G rs775201566 RTN3 Synonymous SNV L499L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.044 156287 chr14 92461785 92461785 G A rs143594637 TRIP11 Nonsynonymous SNV A1655V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 6.023 156288 chr17 42992461 42992461 C T rs376110896 GFAP Nonsynonymous SNV A132T 0.003 0 0 0 4 0 0 0 0 0 0 0 14.77 156289 chr17 43013477 43013477 G A rs751146669 KIF18B Nonsynonymous SNV A79V 0.005 0 0 0 6 0 0 0 0 0 0 0 2.824 156290 chr2 46234762 46234762 A G rs77951226 PRKCE Nonsynonymous SNV N409D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19.45 156291 chr14 23902293 23902293 G A rs149439730 MYH7 Synonymous SNV Y115Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.85 156292 chr11 65320898 65320898 T G LTBP3 Nonsynonymous SNV Q323P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 156293 chr14 96944909 96944909 C T rs199926758 AK7 Nonsynonymous SNV R489W 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 34 156294 chr12 132625180 132625180 C T rs370006300 DDX51 Nonsynonymous SNV R514Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 29.6 156295 chr12 133435730 133435730 C G CHFR Nonsynonymous SNV A199P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.232 156296 chr15 23021223 23021223 A C NIPA2 Synonymous SNV L38L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.486 156297 chr11 66188725 66188725 G T rs141939779 NPAS4 Nonsynonymous SNV E25D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.832 156298 chr11 69625346 69625346 G C FGF3 Synonymous SNV A149A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.359 156299 chr12 16392788 16392788 T C rs139219535 SLC15A5 Nonsynonymous SNV Y330C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 156300 chr11 71712634 71712634 G A IL18BP Synonymous SNV E181E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.259 156301 chr14 23314476 23314476 G A MMP14 Nonsynonymous SNV E440K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156302 chr17 5317427 5317427 G A NUP88 Synonymous SNV F165F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.84 156303 chr2 73761988 73761988 T A ALMS1 Nonsynonymous SNV S3272R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 156304 chr2 74653467 74653467 G A rs145047223 RTKN Nonsynonymous SNV A532V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.3 156305 chr2 74708174 74708174 G A rs766246005 CCDC142 Nonsynonymous SNV T433I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.35 156306 chr14 53020182 53020182 T C rs763457316 GPR137C Nonsynonymous SNV L106P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.128 156307 chr4 85654619 85654619 C T rs139607760 WDFY3 Synonymous SNV R2379R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 156308 chr11 72408229 72408229 C T rs367648910 ARAP1 Nonsynonymous SNV E683K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 156309 chr12 352957 352957 G A rs557961684 SLC6A13 Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 156310 chr12 39763544 39763544 G C KIF21A Nonsynonymous SNV A146G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 156311 chr11 74717330 74717330 C G NEU3 Synonymous SNV P393P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.858 156312 chr12 40907385 40907385 G T MUC19 0.001 0 0 0 1 0 0 0 0 0 0 0 1.626 156313 chr11 76247008 76247008 A T rs144798466 EMSY Nonsynonymous SNV E756V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 156314 chr4 96091353 96091353 G A rs201959747 UNC5C Nonsynonymous SNV T861M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 156315 chr12 45795645 45795645 C T rs78915451 ANO6 Nonsynonymous SNV S485F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 156316 chr11 83544658 83544658 G A rs758561562 DLG2 Nonsynonymous SNV S366L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 156317 chr4 100571236 100571236 C A rs934596887 C4orf54 Nonsynonymous SNV V1524F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 156318 chr12 4702291 4702291 G A DYRK4 Nonsynonymous SNV S81N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.157 156319 chr17 66547263 66547263 T G PRKAR1A X338E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 156320 chr14 51111617 51111617 A G rs368491552 SAV1 Synonymous SNV Y217Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 156321 chr11 82868668 82868668 G A rs767866857 PCF11 Nonsynonymous SNV A63T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 156322 chr2 105716203 105716203 C T rs201628879 MRPS9 Nonsynonymous SNV T392M 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 35 156323 chr4 113578482 113578482 G - LARP7 X596X 0 0 0 1 0 0 0.003 0 0 0 0 0 156324 chr4 114824087 114824087 G A rs188514890 ARSJ Synonymous SNV Y381Y 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 0.571 156325 chr15 75931997 75931997 T C IMP3 Synonymous SNV L171L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.333 156326 chr4 119618349 119618349 C T rs753858465 METTL14 Synonymous SNV A172A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.08 156327 chr15 51828990 51828990 T C rs772129232 DMXL2 Nonsynonymous SNV M563V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.425 156328 chr11 88924441 88924441 A G rs61754373 TYR Synonymous SNV L297L 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 0.975 156329 chr14 57711077 57711077 C A EXOC5 Nonsynonymous SNV V91F 0.001 0 0 0 1 0 0 0 0 0 0 0 26 156330 chr17 7186585 7186585 C G rs139011011 SLC2A4 Nonsynonymous SNV R19G 0.003 0 0 0 4 0 0 0 0 0 0 0 16.14 156331 chr12 5154230 5154230 C A rs527534559 KCNA5 Nonsynonymous SNV P306Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 156332 chr4 126240041 126240041 C T rs764273048 FAT4 Synonymous SNV N825N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.327 156333 chr12 100813807 100813807 C G SLC17A8 Nonsynonymous SNV S497C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 156334 chr14 64447777 64447777 A G SYNE2 Nonsynonymous SNV I574M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 156335 chr12 104099498 104099498 C A rs201821239 STAB2 Nonsynonymous SNV T1330N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 17.49 156336 chr4 146067502 146067502 G A rs758344812 OTUD4 Nonsynonymous SNV R382C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 156337 chr4 154216857 154216857 C T rs376619155 TRIM2 Synonymous SNV T366T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.71 156338 chr4 154510150 154510150 A G rs149514201 TMEM131L Nonsynonymous SNV D554G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.31 156339 chr4 154523343 154523343 A T rs146948220 TMEM131L Nonsynonymous SNV N769I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 156340 chr15 86123197 86123197 A G rs756304435 AKAP13 Nonsynonymous SNV Q633R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.4 156341 chr17 73733446 73733446 C G ITGB4 Nonsynonymous SNV D678E 0.006 0 0 2 7 0 0.005 0 0 0 0 0 18.99 156342 chr15 86807579 86807579 C T AGBL1 Stop gain Q393X 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.5 156343 chr12 10856734 10856734 C T rs375433594 YBX3 Nonsynonymous SNV G196E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 156344 chr14 93708946 93708946 C G rs141130270 BTBD7 Synonymous SNV P673P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.466 156345 chr14 93709170 93709170 T C rs200000140 BTBD7 Nonsynonymous SNV N599D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.178 156346 chr12 106461601 106461601 T C NUAK1 Nonsynonymous SNV D322G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 156347 chr15 72119177 72119177 G A rs745417000 MYO9A Nonsynonymous SNV S2464L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 156348 chr2 152982745 152982745 T C rs61754878 STAM2 Nonsynonymous SNV M392V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.013 156349 chr14 73718526 73718526 G A rs375078700 PAPLN Synonymous SNV S275S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.57 156350 chr14 75489722 75489722 C T MLH3 0.003 0 0 0 4 0 0 0 0 0 0 0 26.7 156351 chr17 76075481 76075481 G A rs143705154 TNRC6C Synonymous SNV P1069P 0.003 0 0 0 4 0 0 0 0 0 0 0 11.72 156352 chr4 176561345 176561345 G A rs146272841 GPM6A Synonymous SNV L172L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.33 156353 chr2 160714968 160714968 C T rs116058499 LY75, LY75-CD302 Nonsynonymous SNV R763Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27 156354 chr17 76445502 76445502 C T rs2305040 DNAH17 Synonymous SNV T3735T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.75 156355 chr4 184205430 184205430 C T rs45470696 WWC2 Nonsynonymous SNV R979C 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 28.8 156356 chr15 90770808 90770808 G A rs751329744 SEMA4B Nonsynonymous SNV E432K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 156357 chr14 78170748 78170748 T C rs145170478 ALKBH1 Nonsynonymous SNV S86G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 156358 chr12 5744335 5744335 T C rs112073363 ANO2 Nonsynonymous SNV K600R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 156359 chr12 117680463 117680463 T C rs780212078 NOS1 Nonsynonymous SNV S668G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 156360 chr12 120263086 120263086 G A rs56011640 CIT Synonymous SNV Y280Y 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Likely benign 0.285 156361 chr15 81635654 81635654 A G rs370424165 TMC3 Synonymous SNV N560N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.734 156362 chr14 92488106 92488106 C A rs141553918 TRIP11 Nonsynonymous SNV A127S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.201 156363 chr5 163534 163534 C T rs144505991 PLEKHG4B Nonsynonymous SNV T1116I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.05 156364 chr15 39876332 39876332 G A rs144786467 THBS1 Nonsynonymous SNV E283K 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 32 156365 chr12 68052280 68052280 G C rs147432605 DYRK2 Synonymous SNV R458R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.168 156366 chr12 124418050 124418050 C T rs374117121 DNAH10 Nonsynonymous SNV A4372V 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 24.7 156367 chr5 1243802 1243802 G A rs201512302 SLC6A18 Nonsynonymous SNV V422M 0 0 0.01 1 0 0 0.003 3 0 0 0 0 2.318 156368 chr12 124829468 124829468 C T rs191598312 NCOR2 Synonymous SNV A1453A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.07 156369 chr16 1272754 1272754 G A TPSG1 Nonsynonymous SNV L137F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 156370 chr16 1392000 1392000 G A rs370223637 BAIAP3 Nonsynonymous SNV D264N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.6 156371 chr14 95088801 95088801 A G rs1802958 SERPINA3 Synonymous SNV T347T 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.041 156372 chr16 14038659 14038659 T C rs2020955 ERCC4 Nonsynonymous SNV S662P 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 Benign 0.045 156373 chr5 5462753 5462753 G T rs780765389 ICE1 Nonsynonymous SNV E1102D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.17 156374 chr15 40764394 40764423 TACCGGCCAGCCAGCCCCGAAAGCCTGCAT - CHST14 R329_Y338del 0.001 0 0 0 1 0 0 0 0 0 0 0 156375 chr5 7886745 7886745 C T MTRR Nonsynonymous SNV H359Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.64 156376 chr12 129190799 129190799 G T TMEM132C Stop gain E1096X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 156377 chr15 41224538 41224538 G A rs139491690 DLL4 Nonsynonymous SNV R248Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 24.3 156378 chr12 129308133 129308133 G A SLC15A4 Nonsynonymous SNV A119V 0 0 0.007 0 0 0 0 2 0 0 0 0 20.2 156379 chr5 13714562 13714562 C T rs148805204 DNAH5 Synonymous SNV L4359L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.95 156380 chr15 24921150 24921150 C T rs199753715 NPAP1 Nonsynonymous SNV P46S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 14.55 156381 chr17 8014820 8014820 G T ALOXE3 Nonsynonymous SNV H271N 0.003 0 0 0 4 0 0 0 0 0 0 0 7.218 156382 chr12 132249014 132249014 A G rs780069979 SFSWAP Synonymous SNV P578P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.128 156383 chr15 42162703 42162703 C T rs137894188 SPTBN5 Nonsynonymous SNV D1835N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23 156384 chr12 132852852 132852852 T C rs191065382 LOC100130238 0 0 0.007 0 0 0 0 2 0 0 0 0 0.005 156385 chr12 133220422 133220422 C T POLE 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 156386 chr15 91524848 91524848 T C rs765615758 PRC1 Nonsynonymous SNV M144V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 156387 chr12 8205403 8205403 A G rs376963092 FOXJ2 Nonsynonymous SNV N561S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.057 156388 chr16 19468076 19468076 T C TMC5 Synonymous SNV N16N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.778 156389 chr15 42179610 42179610 C T rs141541070 SPTBN5 Nonsynonymous SNV R230H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.632 156390 chr17 8170537 8170537 C T rs368592464 PFAS Synonymous SNV S1053S 0.003 0 0 0 4 0 0 0 0 0 0 0 11.44 156391 chr12 18237466 18237466 G A rs143727240 RERGL Nonsynonymous SNV T106I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.44 156392 chr12 1902879 1902879 G A rs145150489 CACNA2D4 Nonsynonymous SNV P1119L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.432 156393 chr12 18865912 18865912 A C PLCZ1 Nonsynonymous SNV V89G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 156394 chr15 39910063 39910063 C T rs144527032 FSIP1 Synonymous SNV S524S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 13.15 156395 chr16 22255972 22255972 C T rs137985480 EEF2K Stop gain Q90X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 36 156396 chr12 21459816 21459816 C A SLCO1A2 Stop gain E148X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 156397 chr5 39331786 39331786 T C rs13361416 C9 Nonsynonymous SNV I203V 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.001 156398 chr12 21692217 21692217 T C rs372925801 GYS2 Nonsynonymous SNV H622R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.614 156399 chr5 40854402 40854402 - AGC rs746414422 CARD6 T990delinsKP 0 0 0 1 0 0 0.003 0 0 0 0 0 156400 chr5 40854405 40854405 C A rs767315587 CARD6 Nonsynonymous SNV Q991K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.22 156401 chr2 202250995 202250995 G C TRAK2 Nonsynonymous SNV P637A 0 0 0 2 0 0 0.005 0 0 0 0 0 1.545 156402 chr15 51676020 51676020 T G rs77970795 GLDN Nonsynonymous SNV L34V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 156403 chr15 51696856 51696856 G A rs75780940 GLDN Nonsynonymous SNV A397T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 156404 chr15 52567798 52567798 G A rs765230377 MYO5C Synonymous SNV H189H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.872 156405 chr15 41798124 41798124 C T rs144319704 LTK Nonsynonymous SNV V480I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 156406 chr12 25261597 25261597 A G rs373170563 CASC1 Nonsynonymous SNV M514T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 156407 chr2 206480184 206480184 G C rs193187748 PARD3B Nonsynonymous SNV G1020R 0 0 0.007 2 0 0 0.005 2 0 0 0 0 23.8 156408 chr16 2546875 2546875 C T rs772786813 TBC1D24 Synonymous SNV R242R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.164 156409 chr15 57213283 57213283 A G rs35615435 TCF12 Synonymous SNV Q45Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.245 156410 chr2 208841591 208841591 C T rs201268173 PLEKHM3 Nonsynonymous SNV A444T 0 0 0 2 0 0 0.005 0 0 0 0 0 32 156411 chr13 103396628 103396628 C T rs41281664 CCDC168 Nonsynonymous SNV R2140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.921 156412 chr15 59399841 59399841 C T rs201051714 CCNB2 Nonsynonymous SNV P80L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 156413 chr16 1818819 1818819 C T rs368054862 MAPK8IP3 Synonymous SNV P1329P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.1 156414 chr12 42839923 42839923 G C rs201876048 PPHLN1 Nonsynonymous SNV R299P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.27 156415 chr12 32729341 32729341 C G rs371407163 FGD4 Nonsynonymous SNV P129R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.1 156416 chr12 44142256 44142256 T C rs139835782 PUS7L Nonsynonymous SNV E43G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28 156417 chr18 31319905 31319905 A G rs61729759 ASXL3 Nonsynonymous SNV K846R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 14.08 156418 chr5 68715503 68715503 C A MARVELD2 Synonymous SNV P97P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 156419 chr12 48107123 48107123 C T rs145676650 ENDOU Stop gain W204X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 40 156420 chr16 31202138 31202138 A G rs780945558 FUS Synonymous SNV G455G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.963 156421 chr5 72419379 72419379 A G rs201063214 TMEM171 Nonsynonymous SNV K60R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 156422 chr16 2024208 2024208 C T rs140686526 TBL3 Nonsynonymous SNV T35I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22 156423 chr12 48919522 48919522 C T rs563865472 OR8S1 Synonymous SNV L36L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.897 156424 chr15 49033878 49033878 G A CEP152 Nonsynonymous SNV A1282V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 156425 chr15 50534964 50534964 G C rs140622358 HDC Nonsynonymous SNV I461M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.176 156426 chr12 46623012 46623012 G C rs750186657 SLC38A1 Nonsynonymous SNV L80V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 156427 chr15 68119863 68119863 G T SKOR1 Nonsynonymous SNV G566V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.987 156428 chr12 49994742 49994742 C G rs766594506 FAM186B Nonsynonymous SNV K227N 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 156429 chr13 21562221 21562221 G A rs766647771 LATS2 Synonymous SNV G566G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 156430 chr12 52309902 52309902 A G rs61734313 ACVRL1 Synonymous SNV A377A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 0.185 156431 chr12 52448623 52448623 C T rs749928986 NR4A1 Nonsynonymous SNV R171W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.1 156432 chr16 2327617 2327617 C T rs148823458 ABCA3 Nonsynonymous SNV R1655H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.09 156433 chr15 74560706 74560706 T G CCDC33 Nonsynonymous SNV D151E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 156434 chr12 52710345 52710345 G A rs748796258 KRT83 Synonymous SNV H316H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.446 156435 chr16 50334695 50334695 C T rs761680686 ADCY7 Synonymous SNV C382C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.23 156436 chr16 2495551 2495551 A G CCNF Nonsynonymous SNV Y33C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.6 156437 chr12 49745152 49745152 A G rs564850545 DNAJC22 Nonsynonymous SNV Q298R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 156438 chr12 49937297 49937297 C T rs117899362 KCNH3 Synonymous SNV I213I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 156439 chr16 2810368 2810368 A C rs149922891 SRRM2 Synonymous SNV S300S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 156440 chr12 53162772 53162772 - GCT rs534966770 KRT76 S547_G548insS 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 156441 chr12 53164842 53164842 C T rs61730595 KRT76 Synonymous SNV K475K 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 13.8 156442 chr12 53170598 53170598 C T rs61730599 KRT76 Nonsynonymous SNV V160I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.002 156443 chr12 53189512 53189512 A G rs111435734 KRT3 Synonymous SNV F105F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.98 156444 chr12 53291364 53291364 C T rs58573614 KRT8 Nonsynonymous SNV G434S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 24.1 156445 chr5 95116059 95116059 C T rs267600740 RHOBTB3 Synonymous SNV P462P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.88 156446 chr12 54741814 54741814 G C rs73316319 COPZ1 Synonymous SNV V119V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.38 156447 chr15 69709740 69709740 C A rs148511930 KIF23 Nonsynonymous SNV P34T 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 29.3 156448 chr15 69713988 69713988 T C rs145233110 KIF23 Nonsynonymous SNV L7P 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 8.011 156449 chr16 613344 613344 G A rs116903998 PRR35 Nonsynonymous SNV R17Q 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 25.2 156450 chr15 71184329 71184329 G C THAP10 Nonsynonymous SNV P95A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 156451 chr12 55641218 55641218 G A rs11171387 OR6C74 Synonymous SNV L49L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.085 156452 chr12 55641252 55641252 C T rs11171388 OR6C74 Nonsynonymous SNV L61F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 27 156453 chr12 55641263 55641263 C T rs11171389 OR6C74 Synonymous SNV F64F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 12.81 156454 chr5 111311040 111311040 G C rs114287919 NREP Nonsynonymous SNV S22R 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 14.86 156455 chr12 55688448 55688448 G A rs11171402 OR6C6 Nonsynonymous SNV T190I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.1 156456 chr5 112175166 112175166 C T rs371113837 APC Nonsynonymous SNV T1274M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.88 156457 chr18 72997825 72997825 - GC TSHZ1 Frameshift insertion A155Gfs*108 0.001 0 0 0 1 0 0 0 0 0 0 0 156458 chr12 56363357 56363357 G A rs2069406 CDK2 Synonymous SNV E195E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 11.12 156459 chr12 56437917 56437917 T A rs56696262 RPS26 Synonymous SNV R109R 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign 8.533 156460 chr16 3339752 3339752 G A rs758023508 ZNF263 Nonsynonymous SNV G416S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.117 156461 chr12 56755300 56755300 A C rs11575217 APOF Synonymous SNV A230A 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.004 156462 chr12 53292590 53292590 C T rs57626370 KRT8 Nonsynonymous SNV A359T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 156463 chr5 115782432 115782432 G A rs150657301 SEMA6A Synonymous SNV N990N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.896 156464 chr15 76301629 76301629 C T rs757305934 NRG4 Nonsynonymous SNV E6K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 156465 chr12 53346601 53346601 A G rs200552337 KRT18 Nonsynonymous SNV N423S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.17 156466 chr12 53449597 53449597 T C rs2293062 TNS2 Synonymous SNV S253S 0.007 0.008 0.003 5 8 3 0.013 1 0 0 0 0 7.307 156467 chr12 53565117 53565117 G T rs544766547 CSAD Stop gain S187X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 156468 chr5 121787062 121787062 G C rs370727741 SNCAIP Nonsynonymous SNV K436N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.88 156469 chr13 61985604 61985604 C T rs768288965 PCDH20 Synonymous SNV P876P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.616 156470 chr16 3778958 3778958 C T rs374969185 CREBBP Synonymous SNV Q1992Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.298 156471 chr12 57629572 57629572 G A rs202089444 NDUFA4L2 Nonsynonymous SNV P56L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 156472 chr13 75863205 75863205 C T TBC1D4 Synonymous SNV E1113E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 156473 chr2 239039611 239039611 G A rs4663293 ESPNL Synonymous SNV S384S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.864 156474 chr5 128302185 128302185 G A rs142676290 SLC27A6 Nonsynonymous SNV V119I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.412 156475 chr15 89421249 89421249 G A rs2280464 HAPLN3 Synonymous SNV P345P 0.004 0 0.014 3 5 0 0.008 4 0 0 0 0 8.236 156476 chr5 132437499 132437499 C T rs61749631 HSPA4 Nonsynonymous SNV P696S 0.006 0.003 0.01 5 7 1 0.013 3 0 0 1 0 Benign 27.4 156477 chr5 134229209 134229209 G A rs147527860 TXNDC15 Nonsynonymous SNV G139S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.27 156478 chr16 47162298 47162298 T C rs747385450 NETO2 Nonsynonymous SNV K140R 0.005 0 0 3 6 0 0.008 0 0 0 0 0 22.7 156479 chr15 79755593 79755593 C T rs146506753 MINAR1 Nonsynonymous SNV P828L 0.005 0 0 0 6 0 0 0 0 0 0 0 32 156480 chr12 66703975 66703975 G A rs145110411 HELB Nonsynonymous SNV D423N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 13.79 156481 chr12 56221277 56221277 C T rs548413242 DNAJC14 Nonsynonymous SNV R389Q 0.003 0 0 0 4 0 0 0 0 0 0 0 12.53 156482 chr14 102505831 102505831 G T rs754712755 DYNC1H1 Nonsynonymous SNV G3848V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 156483 chr14 102898442 102898442 - GAA rs572609303 TECPR2 K471_T472insK 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 156484 chr14 103996406 103996406 C G TRMT61A Nonsynonymous SNV Q31E 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.2 156485 chr12 7528296 7528296 G A rs143112361 CD163L1 Stop gain R906X 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 35 156486 chr12 7586260 7586260 T C rs139597094 CD163L1 Nonsynonymous SNV N52S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 156487 chr14 105180633 105180633 G A rs200369827 INF2 Nonsynonymous SNV R1045Q 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 Benign/Likely benign 0.01 156488 chr5 140346870 140346870 G C rs150694611 PCDHAC2 Nonsynonymous SNV Q173H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 156489 chr19 12848332 12848332 G T GET3 Nonsynonymous SNV V5L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.9 156490 chr5 140737136 140737136 C T rs755555398 PCDHGA4 Nonsynonymous SNV P821L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 156491 chr16 626231 626231 G A rs377584601 PIGQ Nonsynonymous SNV D307N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Uncertain significance 6.099 156492 chr5 140751377 140751377 G T rs374995933 PCDHGB3 Synonymous SNV A472A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.171 156493 chr12 88178223 88178223 T C rs117264043 MKRN9P 0 0 0.02 0 0 0 0 6 0 0 0 0 3.01 156494 chr12 64813931 64813931 T C rs373053848 XPOT Synonymous SNV L191L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.115 156495 chr5 140867310 140867310 G C PCDHGC4 Nonsynonymous SNV G857A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 156496 chr14 20482998 20482998 T C rs7157076 OR4K14 Nonsynonymous SNV M119V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23.5 156497 chr16 68264906 68264906 G C rs145134851 ESRP2 Nonsynonymous SNV T589S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 156498 chr5 141233971 141233971 G A rs75207818 PCDH1 Nonsynonymous SNV T1117I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25.9 156499 chr12 66859110 66859110 A G rs201673783 GRIP1 Nonsynonymous SNV C273R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.116 156500 chr14 20586519 20586519 T C rs12101112 OR4K17 Synonymous SNV Y290Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 156501 chr16 707198 707198 A G WDR90 Nonsynonymous SNV Q817R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 156502 chr12 70949909 70949909 G T PTPRB Nonsynonymous SNV N1270K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 156503 chr13 100622661 100622661 - GGCGGCGGC ZIC5 P424_A425insPPP 0 0 0.003 0 0 0 0 1 0 0 0 0 156504 chr12 7361754 7361754 C T rs143571888 PEX5 Synonymous SNV S508S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.09 156505 chr5 149435650 149435650 G C CSF1R Synonymous SNV V831V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.839 156506 chr13 103527717 103527717 C T rs769849733 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R1009C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 156507 chr16 1536525 1536525 G C PTX4 Synonymous SNV V279V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 156508 chr13 110814632 110814632 G C COL4A1 Nonsynonymous SNV H1469Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.953 156509 chr5 150723142 150723142 C T rs35403441 SLC36A2 Synonymous SNV L91L 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 Benign 11.47 156510 chr3 38051264 38051264 G A rs150254083 PLCD1 Synonymous SNV L463L 0 0 0 2 0 0 0.005 0 0 0 0 0 1.606 156511 chr19 17316130 17316130 C T rs781022187 MYO9B Synonymous SNV Y1683Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.604 156512 chr13 111132632 111132632 C G COL4A2 Nonsynonymous SNV L885V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 156513 chr16 89351537 89351537 C T rs145731868 ANKRD11 Synonymous SNV K471K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 3.998 156514 chr13 111132727 111132727 C T rs371759473 COL4A2 Synonymous SNV P916P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 156515 chr16 81213372 81213372 G C rs200514929 PKD1L2 Nonsynonymous SNV A28G 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 23.1 156516 chr12 85680695 85680695 C T rs144593505 ALX1 Nonsynonymous SNV A199V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 156517 chr16 81388255 81388255 A G rs112693832 GAN Synonymous SNV Q176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.823 156518 chr13 19751288 19751288 C T rs371362465 TUBA3C Nonsynonymous SNV E279K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 156519 chr17 10728958 10728958 G A rs192012879 PIRT Nonsynonymous SNV T2M 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 19.91 156520 chr16 2521898 2521898 G T rs745378985 NTN3 Nonsynonymous SNV A66S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.509 156521 chr13 25265221 25265221 A G rs758346377 ATP12A Nonsynonymous SNV I307V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.763 156522 chr16 84492885 84492885 C T rs144698981 ATP2C2 Synonymous SNV S591S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Benign 10.79 156523 chr16 2229837 2229837 G A rs776352756 CASKIN1 Nonsynonymous SNV R1178C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 156524 chr14 36219889 36219889 C T rs567045492 RALGAPA1 Synonymous SNV P270P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 156525 chr12 97205611 97205611 C T CFAP54 Nonsynonymous SNV P2983L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 156526 chr16 22826062 22826062 T C rs191390281 HS3ST2 Nonsynonymous SNV L44P 0.004 0 0 0 5 0 0 0 0 0 0 0 16.87 156527 chr16 84879510 84879510 G A rs745412278 CRISPLD2 Nonsynonymous SNV R120K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 156528 chr19 19338912 19338912 C G NCAN Nonsynonymous SNV P828R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 21.9 156529 chr16 2294549 2294549 C T rs145543160 ECI1 Nonsynonymous SNV R100H 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 12.14 156530 chr17 1630024 1630024 C T WDR81 Nonsynonymous SNV R591C 0 0.003 0 0 0 1 0 0 0 0 0 0 27 156531 chr5 169697913 169697913 G A rs377523928 LCP2 Synonymous SNV D111D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 156532 chr16 29845271 29845271 G A rs144701925 MVP Nonsynonymous SNV R154Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.5 156533 chr16 30537032 30537052 TTCATAGCCAGGGCTCCGGGG - rs774353959 ZNF768 P137_E143del 0.002 0 0 0 2 0 0 0 0 0 0 0 156534 chr16 30750941 30750941 C T rs201229743 SRCAP Nonsynonymous SNV R3194C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 156535 chr14 50655338 50655338 T C rs113460230 SOS2 Synonymous SNV L197L 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 Benign 6.719 156536 chr17 17409139 17409139 C T rs147868279 PEMT Nonsynonymous SNV R204Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.53 156537 chr16 28597030 28597030 G C SGF29 Nonsynonymous SNV E71D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 156538 chr5 176859076 176859076 C T rs143204554 GRK6 Synonymous SNV L77L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.01 156539 chr19 2248179 2248179 T C rs138163109 SF3A2 Synonymous SNV V343V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 156540 chr19 2248185 2248185 A T rs777102033 SF3A2 Synonymous SNV P345P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 156541 chr16 30199093 30199093 C T rs149867063 CORO1A Synonymous SNV S268S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 15.13 156542 chr14 52981648 52981648 A C TXNDC16 Synonymous SNV T180T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.01 156543 chr16 321280 321280 C T RGS11 Nonsynonymous SNV D78N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 156544 chr17 18907171 18907171 G T FAM83G Nonsynonymous SNV L62M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 156545 chr3 48718894 48718894 C T rs201990279 NCKIPSD Synonymous SNV A306A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.33 156546 chr16 30772885 30772885 G A rs113572387 CCDC189 Nonsynonymous SNV P62L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 156547 chr16 30992070 30992070 G A SETD1A Nonsynonymous SNV R1531H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 156548 chr16 3529527 3529527 C T NAA60 Nonsynonymous SNV A56V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 156549 chr16 31161349 31161349 C T rs374152172 PRSS36 Nonsynonymous SNV R3Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.615 156550 chr17 21101885 21101885 C T rs200018147 TMEM11 Nonsynonymous SNV A111T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 156551 chr13 52602699 52602699 A G rs188332164 ALG11 Synonymous SNV L484L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 5.392 156552 chr13 114059860 114059860 T C LOC101928841 Nonsynonymous SNV K882R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.393 156553 chr13 114061931 114061931 C T rs535055410 LOC101928841 Nonsynonymous SNV E192K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 156554 chr16 89265965 89265965 G A rs752969148 SLC22A31 Nonsynonymous SNV R29W 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.3 156555 chr16 3293571 3293571 C G MEFV Nonsynonymous SNV C639S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 156556 chr19 33149861 33149861 G A rs147502994 ANKRD27 Nonsynonymous SNV R21C 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 32 156557 chr16 29884701 29884701 G A rs372252400 SEZ6L2 Nonsynonymous SNV T669M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 28.3 156558 chr16 89663025 89663025 C G CPNE7 Nonsynonymous SNV P558R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 156559 chr16 29908195 29908195 C T rs140412141 SEZ6L2 Synonymous SNV T109T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 15.37 156560 chr16 46638303 46638303 A G rs747730910 SHCBP1 Nonsynonymous SNV C216R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.7 156561 chr16 89985770 89985770 G A rs779504604 MC1R Nonsynonymous SNV C35Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 23 156562 chr14 62567163 62567163 G A rs376542046 SYT16 Nonsynonymous SNV R378H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 156563 chr17 10304054 10304054 C A rs138679792 MYH8 Nonsynonymous SNV A1130S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 15.27 156564 chr13 98645173 98645173 G A rs1052574529 IPO5 Nonsynonymous SNV D233N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 156565 chr16 31089348 31089348 C A ZNF646 Nonsynonymous SNV A568E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 156566 chr14 102808434 102808434 C T rs749443699 ZNF839 Nonsynonymous SNV P785L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 156567 chr6 12089463 12089463 A - HIVEP1 E32Kfs*17 0 0 0 1 0 0 0.003 0 0 0 0 0 156568 chr13 32367018 32367018 C T rs774040872 RXFP2 Nonsynonymous SNV P503S 0.002 0 0 0 2 0 0 0 0 0 0 0 32 156569 chr3 56716992 56716992 C T rs200185070 TASOR Nonsynonymous SNV A15T 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 0.743 156570 chr17 27229679 27229679 C A DHRS13 Synonymous SNV L56L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.6 156571 chr14 70883626 70883626 C T SYNJ2BP, SYNJ2BP-COX16 Nonsynonymous SNV G19R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 156572 chr17 27948376 27948376 C G rs774422358 CORO6 Nonsynonymous SNV D22H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 156573 chr14 104710895 104710895 C A rs141544932 LINC02691 0 0 0.007 0 0 0 0 2 0 0 0 0 7.533 156574 chr16 57688038 57688038 G T ADGRG1 Nonsynonymous SNV R259L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 156575 chr16 57063711 57063711 A G rs202002811 NLRC5 Nonsynonymous SNV Q757R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.208 156576 chr17 30980871 30980871 T A rs138039699 MYO1D Nonsynonymous SNV H862L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.5 156577 chr6 24653215 24653215 C T rs17249952 TDP2 Nonsynonymous SNV R268Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.19 156578 chr17 17698241 17698241 G A rs377537260 RAI1 Nonsynonymous SNV R660Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 4.223 156579 chr6 24847797 24847797 C T RIPOR2 Synonymous SNV P400P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.43 156580 chr6 25820124 25820124 C T rs6933573 SLC17A1 Nonsynonymous SNV S76N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 25.1 156581 chr16 61761031 61761031 C T rs150448972 CDH8 Synonymous SNV E501E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.29 156582 chr17 19582076 19582076 G A rs909818067 SLC47A2 Nonsynonymous SNV R542C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 156583 chr6 26217355 26217355 C T rs374749260 H2AC8 Synonymous SNV Y51Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.889 156584 chr3 102196389 102196389 C A ZPLD1 Stop gain S408X 0 0 0 2 0 0 0.005 0 0 0 0 0 40 156585 chr16 50339474 50339474 C T rs753203705 ADCY7 Synonymous SNV A552A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 156586 chr6 27368366 27368366 G A rs200362306 ZNF391 Nonsynonymous SNV A73T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 156587 chr16 70698040 70698040 G A rs146676721 MTSS2 Nonsynonymous SNV T595M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 29.6 156588 chr16 71570705 71570705 G A rs144014662 CHST4 Nonsynonymous SNV R42H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.71 156589 chr3 113378472 113378472 G A rs149315682 USF3 Nonsynonymous SNV T686I 0 0 0 2 0 0 0.005 0 0 0 0 0 12.22 156590 chr6 36270189 36270189 C A rs148471904 PNPLA1 Nonsynonymous SNV L357I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.229 156591 chr6 36293191 36293191 C T rs148840710 BNIP5 Nonsynonymous SNV G346D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.17 156592 chr6 36681668 36681668 G A rs145413523 RAB44 Nonsynonymous SNV V91M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.81 156593 chr6 36683295 36683295 G A rs56174160 RAB44 Nonsynonymous SNV R120H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.92 156594 chr3 121206215 121206215 C G POLQ Nonsynonymous SNV A1855P 0 0 0 2 0 0 0.005 0 0 0 0 0 32 156595 chr14 24709351 24709351 C T rs10141326 TINF2 Synonymous SNV P345P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 10.28 156596 chr6 40400070 40400070 G A rs62395888 LRFN2 Synonymous SNV D261D 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 0.784 156597 chr14 31590640 31590640 C T rs777993395 HECTD1 Synonymous SNV S1729S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 156598 chr14 38368168 38368168 T C rs45577044 LINC00517 0 0 0.017 0 0 0 0 5 0 0 0 0 3.082 156599 chr17 39658813 39658813 C G KRT13 Nonsynonymous SNV E353Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 156600 chr17 3563574 3563574 G A rs121908127 CTNS Nonsynonymous SNV G339R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Pathogenic 32 156601 chr15 34546785 34546785 A G SLC12A6 Synonymous SNV Y279Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 156602 chr16 78143714 78143714 G A WWOX Nonsynonymous SNV G71E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 156603 chr6 44122562 44122562 C T rs150146006 TMEM63B Nonsynonymous SNV T814M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 156604 chr14 51464729 51464729 G A rs369002549 TRIM9 Nonsynonymous SNV R548C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 156605 chr14 57052496 57052496 C T rs570522479 TMEM260 Synonymous SNV G70G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.442 156606 chr6 47251758 47251758 C T rs115625609 TNFRSF21 Nonsynonymous SNV A387T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 16.26 156607 chr6 47576969 47576969 T A rs34069459 CD2AP Nonsynonymous SNV N581K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 18.15 156608 chr6 47682310 47682310 C T rs76319405 ADGRF4 Synonymous SNV I443I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.4 156609 chr6 51619706 51619706 G C rs116098879 PKHD1 Synonymous SNV R2891R 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign/Likely benign 1.845 156610 chr6 51934300 51934300 G A rs111809699 PKHD1 Synonymous SNV L245L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.54 156611 chr16 88805227 88805227 G A rs529079119 LOC100289580 0.001 0 0 0 1 0 0 0 0 0 0 0 2.438 156612 chr16 84882997 84882997 C T rs138518275 CRISPLD2 Synonymous SNV R122R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.391 156613 chr6 54254652 54254652 G A rs371696777 TINAG Nonsynonymous SNV V454I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 156614 chr16 86575790 86575790 C G rs745864482 MTHFSD Nonsynonymous SNV A158P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 156615 chr14 67745972 67745972 C T rs149310191 MPP5 Nonsynonymous SNV H29Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.595 156616 chr6 56417813 56417813 T C DST Synonymous SNV E2636E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 156617 chr14 24608278 24608278 G A rs147669663 EMC9 Nonsynonymous SNV R116W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 156618 chr14 24610315 24610315 C T rs753661073 EMC9 0.002 0 0 0 2 0 0 0 0 0 0 0 26 156619 chr14 24610360 24610360 T C EMC9 Nonsynonymous SNV S52G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 156620 chr16 89924861 89924861 C T rs143752388 SPIRE2 Synonymous SNV R406R 0.004 0.01 0.017 1 5 4 0.003 5 0 0 0 0 11.57 156621 chr6 73933487 73933487 G C rs374958371 KHDC1L Nonsynonymous SNV P124R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 156622 chr14 72983584 72983584 C A MIR7843 0 0 0.003 0 0 0 0 1 0 0 0 0 8.037 156623 chr6 74207596 74207596 C T rs117757245 MTO1 Synonymous SNV L632L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 12.01 156624 chr16 88503799 88503799 G A rs533072680 ZNF469 Synonymous SNV T3307T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.12 156625 chr14 24906337 24906337 G A rs763135096 KHNYN Nonsynonymous SNV G669D 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 156626 chr17 10402312 10402312 C A rs147039410 MYH1 Nonsynonymous SNV R1321S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 156627 chr6 76542594 76542594 A G rs941721200 MYO6 Nonsynonymous SNV M143V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 156628 chr17 4717941 4717941 G A rs760975506 PLD2 Nonsynonymous SNV V370I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 7.453 156629 chr15 44695140 44695140 G A rs770196607 CASC4 Synonymous SNV L376L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.47 156630 chr17 4720502 4720502 C T rs763604161 PLD2 Nonsynonymous SNV T588M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 26.8 156631 chr17 4720549 4720549 G A rs371269918 PLD2 Nonsynonymous SNV V604I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 23.3 156632 chr17 12883492 12883492 C T rs369980153 ARHGAP44 Synonymous SNV G421G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.68 156633 chr19 49344521 49344521 C T rs12460394 PLEKHA4 Nonsynonymous SNV R597Q 0.02 0.016 0.014 4 23 6 0.01 4 0 0 0 0 34 156634 chr19 49348842 49348842 G C rs61755449 PLEKHA4 Nonsynonymous SNV P508R 0.02 0.016 0.02 4 23 6 0.01 6 0 0 0 0 8.138 156635 chr17 48618164 48618164 G A rs372785882 EPN3 Synonymous SNV P330P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 12.02 156636 chr14 91165488 91165488 C T rs771905925 LOC105370622 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.881 156637 chr3 165548394 165548394 C T rs201820739 BCHE Nonsynonymous SNV G143D 0.002 0.008 0.003 3 2 3 0.008 1 0 1 0 0 Pathogenic/Likely pathogenic 28.1 156638 chr17 53045693 53045693 G A rs774835975 COX11 Synonymous SNV G105G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.46 156639 chr14 94909479 94909479 T C rs202035957 SERPINA11 Nonsynonymous SNV N334S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 156640 chr14 95085612 95085612 C T rs140884476 SERPINA3 Nonsynonymous SNV P242S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 156641 chr14 95677090 95677090 T G rs148497172 CLMN Nonsynonymous SNV E245D 0 0 0.007 0 0 0 0 2 0 0 0 0 15 156642 chr17 1961400 1961400 C T rs201813917 HIC1 Synonymous SNV D491D 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 Benign 0.061 156643 chr14 58895024 58895024 T A rs554948147 KIAA0586 Synonymous SNV I14I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.798 156644 chr15 101597189 101597189 G A rs368089358 LRRK1 Synonymous SNV P1487P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.11 156645 chr6 118588314 118588314 G A rs548931231 SLC35F1 Nonsynonymous SNV A212T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 156646 chr15 102224334 102224334 T C rs149570515 TARSL2 Nonsynonymous SNV T532A 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 156647 chr15 102346506 102346506 T G OR4F6 Nonsynonymous SNV L195W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 156648 chr15 23014502 23014502 C T rs150146701 NIPA2 Nonsynonymous SNV A56T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 26.8 156649 chr17 45915657 45915657 C T rs147761976 SCRN2 Synonymous SNV L366L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.02 156650 chr14 61519094 61519094 T G rs183491110 SLC38A6 Nonsynonymous SNV L440V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 156651 chr17 2236931 2236931 G A rs138718040 TSR1 Nonsynonymous SNV S354F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29 156652 chr6 126080693 126080693 C G rs547928654 HEY2 Synonymous SNV L253L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.327 156653 chr17 61611628 61611628 G A rs560196120 KCNH6 Nonsynonymous SNV A353T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 156654 chr15 25492335 25492335 C T rs148865572 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 2.375 156655 chr15 31212847 31212847 C T FAN1 Synonymous SNV H681H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 156656 chr6 133072562 133072562 G A VNN2 Nonsynonymous SNV P308S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 156657 chr6 139694491 139694502 GCCGCTGCCGCC - rs772183093 CITED2 G194_G197del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 156658 chr14 70238138 70238138 G A rs191376708 SRSF5 Nonsynonymous SNV R260Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 156659 chr6 144820561 144820561 A G rs773717411 UTRN Nonsynonymous SNV K1588E 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 156660 chr19 52887381 52887381 C T ZNF880 Nonsynonymous SNV P183L 0.003 0 0 0 4 0 0 0 0 0 0 0 16.04 156661 chr15 79296478 79296478 C A RASGRF1 Nonsynonymous SNV K705N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 156662 chr15 40564693 40564693 C T rs55806501 BUB1B-PAK6, PAK6 Nonsynonymous SNV A376V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 156663 chr14 74402695 74402695 G A rs565077740 FAM161B Nonsynonymous SNV R588W 0.001 0 0 0 1 0 0 0 0 0 0 0 0.864 156664 chr3 196050847 196050847 C T rs778577882 TM4SF19 Nonsynonymous SNV R156H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.16 156665 chr14 75365084 75365084 G A rs11623527 DLST Synonymous SNV E261E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.75 156666 chr17 70643723 70643723 C G rs145968132 SLC39A11 X343Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.629 156667 chr6 151939210 151939210 C G rs143566047 CCDC170 Synonymous SNV T692T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.654 156668 chr17 56597842 56597842 C T rs148483356 SEPTIN4 Nonsynonymous SNV R362Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 156669 chr17 72218728 72218728 G A rs146849596 TTYH2 Synonymous SNV A57A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.385 156670 chr17 7224236 7224236 T G NEURL4 Nonsynonymous SNV N1121H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.207 156671 chr15 86253813 86253813 C T rs112971613 AKAP13 Nonsynonymous SNV P467S 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 24.1 156672 chr19 55396911 55396911 G A rs773090562 FCAR Nonsynonymous SNV S100N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.9 156673 chr15 48782072 48782072 T C rs111801777 FBN1 Nonsynonymous SNV T1020A 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 16.7 156674 chr17 73228991 73228991 A G rs371471946 NUP85 Nonsynonymous SNV N435S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.69 156675 chr17 73488701 73488701 C T TMEM94 Synonymous SNV S591S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.39 156676 chr17 73498441 73498441 C T rs988931774 CASKIN2 Nonsynonymous SNV R823Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 156677 chr17 39021191 39021191 C T rs763384010 KRT12 Nonsynonymous SNV R225H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.8 156678 chr4 5795384 5795384 G A rs41269557 EVC Nonsynonymous SNV R609Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.76 156679 chr17 65941619 65941619 A G rs200200542 BPTF Synonymous SNV P2265P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 156680 chr14 99642297 99642297 C T rs746259961 BCL11B Synonymous SNV L220L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.614 156681 chr17 39503138 39503138 C T rs573572296 KRT33A Synonymous SNV T278T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.57 156682 chr17 39521494 39521494 G A rs79296577 KRT33B Nonsynonymous SNV A270V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 156683 chr17 71166212 71166212 A C SSTR2 Nonsynonymous SNV K252Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 156684 chr17 71282075 71282075 C G CDC42EP4 Nonsynonymous SNV D189H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 156685 chr16 103583 103583 G A rs919963543 POLR3K Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 156686 chr17 71410819 71410819 G T rs143251430 SDK2 Nonsynonymous SNV S816R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 156687 chr15 66639640 66639640 C T rs149405648 SCARNA14 0 0 0.007 0 0 0 0 2 0 0 0 0 12.62 156688 chr15 66976341 66976341 G A rs73486344 LINC01169 0 0 0.014 0 0 0 0 4 0 0 0 0 7.396 156689 chr17 7750183 7750183 - ACCACCACC KDM6B P264_L265insPPP 0.001 0.005 0 0 1 2 0 0 0 0 0 0 156690 chr15 68466075 68466075 T A PIAS1 Synonymous SNV G338G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.304 156691 chr17 72308163 72308163 C A rs141581673 DNAI2 Synonymous SNV R494R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Likely benign 21.7 156692 chr17 72308246 72308246 C G DNAI2 Synonymous SNV T521T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.986 156693 chr17 39925841 39925841 C T rs200976464 JUP Synonymous SNV S99S 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.67 156694 chr15 33357180 33357180 C T rs139054944 FMN1 Synonymous SNV V490V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.55 156695 chr17 39406043 39406043 G A rs149976528 KRTAP9-4 Stop gain W24X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 156696 chr7 6189919 6189919 G A rs201342208 USP42 Nonsynonymous SNV G698S 0 0 0 1 0 0 0.003 0 0 0 0 0 26 156697 chr15 72557757 72557757 G A rs780810726 PARP6 Synonymous SNV L78L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.21 156698 chr15 73045224 73045224 C T rs755787183 ADPGK Nonsynonymous SNV A179T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 156699 chr17 40843936 40843936 G A rs143435613 CNTNAP1 Synonymous SNV S819S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 156700 chr15 73615426 73615426 G A HCN4 Nonsynonymous SNV P1003L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.219 156701 chr7 7917104 7917104 A G UMAD1 Nonsynonymous SNV S117G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.256 156702 chr7 8196770 8196770 T C rs200931331 ICA1 Synonymous SNV Q260Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.007 156703 chr15 75499091 75499091 C T rs147093913 C15orf39 Synonymous SNV Y234Y 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.017 156704 chr17 42925536 42925536 C T rs751484914 HIGD1B Nonsynonymous SNV R6C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 156705 chr7 18993842 18993842 T C rs138163349 HDAC9 Nonsynonymous SNV I960T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.3 156706 chr17 45452257 45452257 A T rs74969489 EFCAB13 Stop gain K337X 0.003 0.01 0.017 1 3 4 0.003 5 0 0 0 0 35 156707 chr17 80037349 80037349 G A rs769391843 FASN Nonsynonymous SNV R2428C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.3 156708 chr17 40914717 40914717 G C RAMP2 Nonsynonymous SNV Q125H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 156709 chr15 41999944 41999944 C T rs201885820 MGA Nonsynonymous SNV S736L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 19.79 156710 chr17 8243723 8243723 G A ODF4 Synonymous SNV V118V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.179 156711 chr17 76045567 76045567 G A rs143335497 TNRC6C Nonsynonymous SNV G142R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.7 156712 chr16 22087020 22087020 - TGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAGGATTTTACATCAAT MOSMO Stop gain E125* 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 156713 chr16 22092171 22092171 A G rs764868216 MOSMO Synonymous SNV L158L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.399 156714 chr15 86312964 86312964 G A rs747987521 KLHL25 Synonymous SNV A26A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.917 156715 chr15 43018613 43018613 G A rs148832555 CDAN1 Synonymous SNV D1033D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 9.951 156716 chr17 76510952 76510952 G A rs375012517 DNAH17 Synonymous SNV T1339T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 4.461 156717 chr17 4875557 4875557 A G rs779053378 CAMTA2 Synonymous SNV A928A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 156718 chr17 4936278 4936278 C G rs148979394 SLC52A1 Nonsynonymous SNV D441H 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Likely benign 16.71 156719 chr16 27414536 27414536 C T rs79854010 IL21R Synonymous SNV V15V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.614 156720 chr4 74846990 74846990 T C rs116188786 PF4 Synonymous SNV G88G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.965 156721 chr16 28880669 28880669 T C SH2B1 Nonsynonymous SNV L89P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 156722 chr15 45387741 45387741 T G rs200172076 DUOX2 Nonsynonymous SNV E1378A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 156723 chr15 91424029 91424029 C T rs142489043 FURIN Synonymous SNV S555S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.28 156724 chr16 28965909 28965909 G C NFATC2IP Nonsynonymous SNV G162R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 156725 chr17 56247161 56247161 G A OR4D2 Nonsynonymous SNV V49M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 156726 chr17 56247249 56247249 C T rs781165473 OR4D2 Nonsynonymous SNV A78V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.613 156727 chr7 44578836 44578836 T C rs76327525 NPC1L1 Nonsynonymous SNV N387S 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 0.005 156728 chr19 8993041 8993041 A G rs796540521 MUC16 Synonymous SNV G13906G 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.052 156729 chr17 56342203 56342203 G A rs746743149 LPO Nonsynonymous SNV A380T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 156730 chr7 45004677 45004677 C T rs2107737 MYO1G Nonsynonymous SNV R798Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 156731 chr15 97327401 97327401 C T rs372942430 SPATA8 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 156732 chr16 30536643 30536643 C A ZNF768 Nonsynonymous SNV G273V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 156733 chr16 30905274 30905274 G A MIR762 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 156734 chr17 56833454 56833454 - CCGGAACCCGAA PPM1E E44_S45insPEPE 0.001 0 0 0 1 0 0 0 0 0 0 0 156735 chr16 31088555 31088555 C T rs149858230 ZNF646 Nonsynonymous SNV R304W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 156736 chr17 60824320 60824320 C T MARCHF10 Stop gain W134X 0.002 0 0 0 2 0 0 0 0 0 0 0 14.65 156737 chr16 1115849 1115849 C A rs34613944 SSTR5-AS1 0 0 0.044 0 0 0 0 13 0 0 0 0 2.948 156738 chr18 31323201 31323201 C G rs185753602 ASXL3 Nonsynonymous SNV P1130R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Likely benign 16.41 156739 chr7 48353901 48353901 G C rs200330199 ABCA13 Nonsynonymous SNV D3252H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 156740 chr16 11845322 11845322 A G rs772025198 ZC3H7A Nonsynonymous SNV F923L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.626 156741 chr7 48390325 48390325 C T rs371675186 ABCA13 Synonymous SNV C3430C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.99 156742 chr4 87662871 87662871 G A rs28694264 PTPN13 Nonsynonymous SNV V797I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.25 156743 chr16 13010656 13010656 C G SHISA9 Synonymous SNV T225T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 156744 chr16 14341299 14341299 C T MRTFB Nonsynonymous SNV P717S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.96 156745 chr16 457544 457544 C T rs149887664 DECR2 Synonymous SNV I107I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 156746 chr16 15820855 15820855 C G MYH11 Synonymous SNV L1236L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.934 156747 chr17 6511676 6511676 T C rs752727104 KIAA0753 Synonymous SNV E308E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 156748 chr17 65730548 65730548 G C rs201381442 NOL11 Nonsynonymous SNV S126T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 156749 chr16 1821093 1821093 G A rs762508512 NME3 Nonsynonymous SNV A86V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 156750 chr17 56565453 56565453 C G HSF5 Synonymous SNV G61G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.908 156751 chr7 77256669 77256669 T C rs144996630 PTPN12 Nonsynonymous SNV I428T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.001 156752 chr15 65687558 65687558 C T rs143498653 IGDCC4 Nonsynonymous SNV D484N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156753 chr17 71232728 71232728 G A rs35997714 C17orf80 Synonymous SNV S369S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.824 156754 chr17 58539276 58539276 C T APPBP2 Synonymous SNV R206R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 156755 chr7 80103615 80103615 G A rs775635099 GNAT3 Nonsynonymous SNV T181M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 156756 chr17 8396189 8396189 G A MYH10 Nonsynonymous SNV R1424C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 156757 chr7 82580429 82580429 T C rs200296375 PCLO Nonsynonymous SNV I3159V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.481 156758 chr15 67813911 67813911 G A C15orf61 Nonsynonymous SNV A109T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 156759 chr4 110788805 110788805 G C LRIT3 Nonsynonymous SNV D200H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 156760 chr17 61562322 61562322 T C rs4317 ACE Nonsynonymous SNV S32P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.057 156761 chr17 61562373 61562373 A G rs4318 ACE Nonsynonymous SNV S49G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.002 156762 chr17 61566085 61566085 G A rs61738817 ACE Synonymous SNV A220A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.974 156763 chr7 88965912 88965912 A G rs147046798 ZNF804B Nonsynonymous SNV I1206V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 156764 chr17 71398216 71398216 T G rs972798671 SDK2 Nonsynonymous SNV Q850P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 156765 chr18 11851813 11851813 G A rs147888666 CHMP1B Synonymous SNV A101A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.41 156766 chr16 57088675 57088675 G A rs148506460 NLRC5 Synonymous SNV T1173T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.233 156767 chr18 11887005 11887005 C T rs35611363 MPPE1 Nonsynonymous SNV V197M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 156768 chr18 11889467 11889467 C T rs11872520 MPPE1 Nonsynonymous SNV R138Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 156769 chr18 12264428 12264428 G C rs145238831 CIDEA Nonsynonymous SNV L102F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26 156770 chr15 72122476 72122476 C G MYO9A Nonsynonymous SNV E2338D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 156771 chr17 726941 726941 G A rs113173467 NXN Synonymous SNV N73N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.951 156772 chr17 72920930 72920930 C T rs151293476 OTOP2 Nonsynonymous SNV A68V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.89 156773 chr18 22804942 22804942 C T rs187705938 ZNF521 Synonymous SNV T760T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.75 156774 chr17 73261868 73261868 G A rs35418346 MRPS7 Nonsynonymous SNV R198Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24 156775 chr16 24676267 24676267 A G rs537784748 LINC01567 0 0 0.003 0 0 0 0 1 0 0 0 0 3.441 156776 chr16 66526899 66526899 C G BEAN1 Nonsynonymous SNV I62M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 156777 chr16 67472953 67472953 C T rs761560649 ATP6V0D1 Nonsynonymous SNV R246Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 156778 chr16 24946796 24946796 C T rs577832914 ARHGAP17 Nonsynonymous SNV R552H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 156779 chr16 67693292 67693292 G A rs151132164 ACD Synonymous SNV L148L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.88 156780 chr7 99720009 99720009 G T CNPY4 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 156781 chr16 27752134 27752134 A G rs139475287 KIAA0556 Nonsynonymous SNV D839G 0 0 0.007 0 0 0 0 2 0 0 0 0 26.3 156782 chr16 68048132 68048132 C T rs997193578 DPEP2NB Nonsynonymous SNV R84H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.824 156783 chr7 100275806 100275806 G A rs79631023 GNB2 Nonsynonymous SNV D195N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 156784 chr18 7011321 7011321 G A rs762725918 LAMA1 Nonsynonymous SNV P1222L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 156785 chr1 114400265 114400265 T A rs903002602 AP4B1-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 7.078 156786 chr16 30390369 30390369 C T rs199791904 SEPTIN1 Nonsynonymous SNV R304Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 27.1 156787 chr16 30680156 30680156 C T rs759285388 FBRS Nonsynonymous SNV P741L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 156788 chr1 114942217 114942217 A G TRIM33 Synonymous SNV Y994Y 0.003 0 0 0 4 0 0 0 0 0 0 0 3.145 156789 chr17 74004712 74004712 C T rs868094270 EVPL Nonsynonymous SNV R1547Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 156790 chr1 115615599 115615599 T C rs201498821 TSPAN2 Synonymous SNV G33G 0.007 0 0 0 8 0 0 0 0 0 0 0 8.783 156791 chr17 74275174 74275174 T C rs748746501 QRICH2 Nonsynonymous SNV I1456V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 156792 chr17 74275505 74275505 G C QRICH2 Nonsynonymous SNV L1419V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 156793 chr16 3117421 3117421 T C rs764542270 IL32 Nonsynonymous SNV M20T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.051 156794 chr1 11709865 11709865 C T FBXO2 Synonymous SNV T196T 0.003 0 0 0 4 0 0 0 0 0 0 0 19.95 156795 chr16 3334136 3334136 G T rs145142755 ZNF263 Synonymous SNV P106P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.955 156796 chr16 3335118 3335118 A T rs150400958 ZNF263 Synonymous SNV T149T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 156797 chr17 72440050 72440050 C T rs372755450 GPRC5C Nonsynonymous SNV P382L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 156798 chr16 4834031 4834031 T C SEPTIN12 Nonsynonymous SNV E138G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 156799 chr1 1225753 1225753 C T rs113197404 SCNN1D Nonsynonymous SNV R589W 0.008 0 0 0 9 0 0 0 0 0 0 0 25.6 156800 chr1 1267495 1267495 C T rs201534184 TAS1R3 Nonsynonymous SNV T195M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.073 156801 chr7 100551731 100551731 C A rs370932034 MUC3A Nonsynonymous SNV T771K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.075 156802 chr1 144922538 144922538 A T rs370911424 PDE4DIP Nonsynonymous SNV L453Q 0.003 0 0 0 4 0 0 0 0 0 0 0 29.4 156803 chr17 77711011 77711011 G A rs145692528 ENPP7 Nonsynonymous SNV E400K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.9 156804 chr15 90631726 90631726 G C rs772650285 IDH2 Synonymous SNV A51A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 156805 chr15 90785254 90785254 G A rs766084622 GDPGP1 Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 156806 chr17 73900799 73900799 G A rs371338042 MRPL38 Synonymous SNV A23A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.362 156807 chr16 82131688 82131688 G T rs79488654 HSD17B2 Nonsynonymous SNV G271C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.3 156808 chr19 11352814 11352814 T C rs766544205 DOCK6 Nonsynonymous SNV H517R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.134 156809 chr19 11917463 11917463 G T rs142223398 ZNF491 Nonsynonymous SNV R232M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.555 156810 chr16 57719746 57719746 C T rs200130702 ADGRG3 Nonsynonymous SNV S363L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29 156811 chr17 78306001 78306001 G A rs763243455 RNF213 Nonsynonymous SNV R1238Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.209 156812 chr16 84438827 84438827 G A rs78887288 ATP2C2 Nonsynonymous SNV V102M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.41 156813 chr18 72226649 72226649 C T rs200047310 CNDP1 Nonsynonymous SNV A82V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.54 156814 chr18 72250894 72250894 G A rs143921310 CNDP1 Synonymous SNV P469P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.193 156815 chr16 66547651 66547651 T C rs766038334 TK2 Nonsynonymous SNV M203V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 156816 chr16 66968255 66968255 C T rs746181958 CIAO2B Nonsynonymous SNV G5S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 156817 chr1 154178115 154178115 C G rs201820451 C1orf189 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 156818 chr16 68260321 68260321 G T rs111275665 NFATC3 Nonsynonymous SNV A1059S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.33 156819 chr5 5242218 5242218 G T rs16875122 ADAMTS16 Nonsynonymous SNV R859L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.08 156820 chr5 5242228 5242228 C T rs77812048 ADAMTS16 Synonymous SNV T862T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.37 156821 chr5 5303867 5303867 C T rs146162678 ADAMTS16 Synonymous SNV S1058S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.42 156822 chr1 155295426 155295426 C T RUSC1 Nonsynonymous SNV R118C 0.003 0 0 0 4 0 0 0 0 0 0 0 33 156823 chr5 9044587 9044587 G A rs147519596 SEMA5A Synonymous SNV H1001H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 6.947 156824 chr16 1545396 1545396 C T rs771811424 TELO2 Nonsynonymous SNV R129C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 156825 chr7 127999919 127999919 T G rs754126331 PRRT4 Nonsynonymous SNV S43R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 156826 chr16 16228323 16228323 C T rs369726733 ABCC1 Synonymous SNV I1361I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.81 156827 chr19 1014323 1014323 G A rs753559807 TMEM259 Synonymous SNV F125F 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 4.635 156828 chr16 1652418 1652418 C T rs146128830 IFT140 Nonsynonymous SNV V108M 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign 23.1 156829 chr17 78341619 78341619 C T RNF213 Synonymous SNV C3981C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.27 156830 chr16 1706668 1706668 C T rs920280760 CRAMP1 Nonsynonymous SNV A637V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.68 156831 chr17 8701708 8701708 C T rs376696031 MFSD6L Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 156832 chr19 1046862 1046862 G C rs748191742 ABCA7 Nonsynonymous SNV V562L 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 32 156833 chr16 2030434 2030434 C G NOXO1 Nonsynonymous SNV S116T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.91 156834 chr19 17323085 17323085 G T rs201009683 MYO9B Nonsynonymous SNV C2147F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21 156835 chr18 18964212 18964212 G T rs370589003 GREB1L Nonsynonymous SNV R68L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 156836 chr18 20564857 20564857 A G rs761936570 RBBP8 Nonsynonymous SNV K205E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.69 156837 chr17 80011774 80011774 G A rs200940124 GPS1 Nonsynonymous SNV G53S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.8 156838 chr18 21437897 21437897 G T rs201582541 LAMA3 Nonsynonymous SNV R1409I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 156839 chr16 84043472 84043472 C T SLC38A8 Nonsynonymous SNV E409K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 156840 chr16 23430139 23430139 T C rs994816379 COG7 Nonsynonymous SNV N340S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.618 156841 chr16 23649207 23649210 ACAA - rs180177143 PALB2 Q60Rfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 156842 chr1 159904288 159904288 G A rs770269042 IGSF9 Synonymous SNV A296A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.74 156843 chr18 31314301 31314301 G A ASXL3 Nonsynonymous SNV R335Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 156844 chr17 17039738 17039738 G A rs755592837 MPRIP Nonsynonymous SNV R269Q 0.003 0 0 0 4 0 0 0 0 0 0 0 17.03 156845 chr16 88498830 88498830 A G rs773925755 ZNF469 Nonsynonymous SNV Q1651R 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 0.004 156846 chr17 17068752 17068752 C T rs756019630 MPRIP Nonsynonymous SNV P1315S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.57 156847 chr17 17069402 17069402 C T rs3744130 MPRIP Synonymous SNV D1531D 0.003 0 0 0 4 0 0 0 0 0 0 0 0.263 156848 chr17 1731283 1731283 A T rs377632089 SMYD4 Nonsynonymous SNV D2E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.05 156849 chr18 346545 346545 C T rs147354214 COLEC12 Synonymous SNV T359T 0.006 0.003 0.003 6 7 1 0.015 1 0 0 0 0 12.14 156850 chr1 16344426 16344426 C T rs151303663 HSPB7 Synonymous SNV A11A 0.007 0 0 1 8 0 0.003 0 0 0 0 0 19.79 156851 chr19 21300284 21300284 A G rs140003541 ZNF714 Nonsynonymous SNV T272A 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 1.909 156852 chr16 88599861 88599861 A G rs774538257 ZFPM1 Nonsynonymous SNV R499G 0 0 0.01 0 0 0 0 3 0 0 0 0 12 156853 chr16 30387520 30387520 C T rs368612339 MYLPF Nonsynonymous SNV R51W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 156854 chr16 88782021 88782021 T C rs570744198 PIEZO1 Nonsynonymous SNV K2520E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 156855 chr16 88798310 88798310 G T rs568280615 PIEZO1 Nonsynonymous SNV F1000L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.3 156856 chr18 20569274 20569274 A G rs142213980 RBBP8 Nonsynonymous SNV E267G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.5 156857 chr1 167814913 167814913 G T rs150156383 ADCY10 Nonsynonymous SNV D812E 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Likely benign 1.201 156858 chr18 47107884 47107884 C T rs61729805 LIPG Nonsynonymous SNV T224I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 156859 chr16 3119201 3119201 G C rs139497186 IL32 Nonsynonymous SNV V129L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.001 156860 chr16 31475835 31475835 G T ARMC5 Synonymous SNV S497S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.205 156861 chr16 31478192 31478192 G A rs61734240 ARMC5 Synonymous SNV G930G 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 10.32 156862 chr17 21318598 21318598 G A rs559230202 KCNJ12, KCNJ18 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.923 156863 chr17 21319003 21319003 G A rs781945367 KCNJ12, KCNJ18 Nonsynonymous SNV G117S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 2.242 156864 chr19 33113389 33113389 G A rs201104046 ANKRD27 Nonsynonymous SNV A589V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 156865 chr16 4407246 4407246 G A rs138689319 CORO7, CORO7-PAM16 Stop gain R785X 0.002 0 0 0 2 0 0 0 0 0 0 0 49 156866 chr7 158445032 158445032 C G NCAPG2 Nonsynonymous SNV E963Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 156867 chr7 158557372 158557372 T C rs34213199 ESYT2 Nonsynonymous SNV Y366C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.2 156868 chr17 2323750 2323750 G A rs368051016 METTL16 Synonymous SNV D401D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.25 156869 chr18 33555001 33555001 A G rs143533349 C18orf21 Synonymous SNV T81T 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 1.578 156870 chr16 46918691 46918691 C T GPT2 Nonsynonymous SNV R22C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 156871 chr18 33558831 33558831 C T C18orf21 Nonsynonymous SNV L112F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.283 156872 chr17 10409193 10409193 C T rs149164396 MYH1 Nonsynonymous SNV E704K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 156873 chr18 57026316 57026316 C T LMAN1 Nonsynonymous SNV G54E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 156874 chr18 57122180 57122180 T C rs115071386 CCBE1 Nonsynonymous SNV H186R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 0.385 156875 chr17 10600820 10600820 G T rs147487151 SCO1 Nonsynonymous SNV A2E 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 26.4 156876 chr16 48239443 48239443 G T rs139021058 ABCC11 Nonsynonymous SNV H562Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.154 156877 chr17 12656124 12656124 C T rs548285922 MYOCD Nonsynonymous SNV P507S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 156878 chr18 61233927 61233927 C T rs749477032 SERPINB12 Nonsynonymous SNV R321W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156879 chr1 17596817 17596817 C T rs145296609 PADI3 Nonsynonymous SNV R248C 0.004 0 0 0 5 0 0 0 0 0 0 0 23.1 156880 chr16 56508775 56508775 C T rs145889680 OGFOD1 Nonsynonymous SNV H403Y 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 14.25 156881 chr1 182353781 182353781 A C rs189435460 GLUL Nonsynonymous SNV L294R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.2 156882 chr17 33884959 33884959 C T rs1057480319 SLFN14 Synonymous SNV E41E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 156883 chr8 12957771 12957771 A C DLC1 Nonsynonymous SNV L181W 0 0 0 1 0 0 0.003 0 0 0 0 0 24 156884 chr19 2226870 2226870 C T rs148358655 DOT1L Synonymous SNV S1450S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.972 156885 chr17 1940152 1940152 C T rs187964662 DPH1 Synonymous SNV A59A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.15 156886 chr17 1961087 1961087 C T HIC1 Nonsynonymous SNV P387L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 156887 chr8 14181636 14181636 A T rs372431745 SGCZ Stop gain Y104X 0 0 0 1 0 0 0.003 0 0 0 0 0 43 156888 chr1 183086726 183086726 G A LAMC1 Nonsynonymous SNV R582Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 156889 chr8 17157605 17157605 A C rs145244130 MTMR7 Nonsynonymous SNV S583R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.348 156890 chr19 2405464 2405464 C G rs146089494 TMPRSS9 Nonsynonymous SNV R221G 0.003 0 0 0 4 0 0 0 0 0 0 0 26.8 156891 chr16 597229 597229 A G rs199656743 CAPN15 Nonsynonymous SNV K131E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 156892 chr16 61858917 61858917 C T rs148693252 CDH8 Synonymous SNV Q278Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 13.28 156893 chr18 8825455 8825455 C T rs375774425 MTCL1 Nonsynonymous SNV T1316M 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 156894 chr16 67683499 67683499 G T rs200887928 CARMIL2 Synonymous SNV A632A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 15.06 156895 chr16 68894223 68894223 C T rs151234531 TANGO6 Synonymous SNV A177A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.87 156896 chr17 25758408 25758408 T A rs118013394 TBC1D3P5 0 0 0.003 0 0 0 0 1 0 0 0 0 0.419 156897 chr16 722306 722306 C T rs751205491 RHOT2 Synonymous SNV V365V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.352 156898 chr17 27936136 27936136 G A rs546096254 ANKRD13B Nonsynonymous SNV D200N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 156899 chr19 39408377 39408377 C T rs535667844 SARS2 Nonsynonymous SNV G383S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 156900 chr17 29645538 29645538 G T rs147909684 EVI2A Nonsynonymous SNV S165Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.049 156901 chr19 39966732 39966732 C T rs368195530 SUPT5H Synonymous SNV C1008C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 156902 chr19 40317438 40317438 C T rs529074049 DYRK1B Nonsynonymous SNV G429S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.92 156903 chr19 36159448 36159448 C G rs753612598 UPK1A Nonsynonymous SNV D59E 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.37 156904 chr19 36221756 36221756 G A rs377420237 KMT2B Nonsynonymous SNV A1809T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 15.33 156905 chr19 40419937 40419937 C G rs367949113 FCGBP Synonymous SNV G1019G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.79 156906 chr19 36297439 36297439 G A rs116573646 PRODH2 Synonymous SNV F374F 0.005 0.005 0 7 6 2 0.018 0 1 0 0 0 7.944 156907 chr19 36302936 36302936 C T rs28563032 PRODH2 Synonymous SNV S251S 0.006 0.005 0 7 7 2 0.018 0 1 0 0 0 Benign 11.71 156908 chr19 11362796 11362796 G T DOCK6 Stop gain S169X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 156909 chr19 36349420 36349420 G A KIRREL2 Nonsynonymous SNV A58T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 28.3 156910 chr8 29996184 29996184 C T rs140611326 MBOAT4 Nonsynonymous SNV A70T 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 0.086 156911 chr19 12976622 12976622 G A MAST1 Synonymous SNV R632R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 156912 chr19 14165531 14165531 G A PALM3 Nonsynonymous SNV S252L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.521 156913 chr16 84213447 84213447 G C rs755123097 TAF1C Synonymous SNV A238A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.634 156914 chr5 137902348 137902348 T C rs775804664 HSPA9 Synonymous SNV E313E 0 0 0 2 0 0 0.005 0 0 0 0 0 3.557 156915 chr19 37644276 37644276 T C ZNF585A Nonsynonymous SNV I175M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.002 156916 chr17 35300085 35300087 ACG - rs746313460 LHX1 D294del 0 0 0.003 0 0 0 0 1 0 0 0 0 156917 chr19 38126021 38126021 G C rs142272588 ZFP30 Nonsynonymous SNV A474G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24.9 156918 chr8 48887414 48887414 G C rs150870761 MCM4 Nonsynonymous SNV V753L 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 Uncertain significance 32 156919 chr16 85667664 85667664 C T rs556048268 GSE1 Nonsynonymous SNV S51L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 156920 chr16 85694827 85694827 G T GSE1 Synonymous SNV S468S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.623 156921 chr1 206945738 206945738 C T rs145922845 IL10 Nonsynonymous SNV G15R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.96 156922 chr19 38933047 38933047 G A rs368516354 RYR1 Nonsynonymous SNV R75Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 33 156923 chr1 207112683 207112683 G A rs747399010 PIGR Nonsynonymous SNV R57W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 156924 chr17 37316951 37316951 G A rs919860904 ARL5C Synonymous SNV D128D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.673 156925 chr16 88505317 88505317 C G rs556316560 ZNF469 Nonsynonymous SNV S3813R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.012 156926 chr19 1578371 1578371 - CTC rs749960268 MBD3 E281_P282insE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 156927 chr5 140953591 140953592 GG - DIAPH1 P600Sfs*50 0 0 0 2 0 0 0.005 0 0 0 0 0 156928 chr5 140953594 140953594 G - DIAPH1 P599Lfs*160 0 0 0 2 0 0 0.005 0 0 0 0 0 156929 chr19 16643930 16643930 C T rs375627165 CHERP Synonymous SNV A138A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 156930 chr17 42248296 42248296 G A rs149170804 ASB16 Nonsynonymous SNV A47T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.59 156931 chr1 211093346 211093346 A C rs6679399 KCNH1 Synonymous SNV R339R 0.009 0.008 0.02 3 10 3 0.008 6 0 0 0 0 0.051 156932 chr19 41018721 41018721 - GCGGGCGCA rs758147374 SPTBN4 G683_T684insAAG 0.002 0 0 0 2 0 0 0 0 0 0 0 156933 chr1 212988479 212988479 G A rs147372063 TATDN3 Nonsynonymous SNV R248Q 0.003 0 0 0 3 0 0 0 0 0 0 0 7.501 156934 chr19 17301938 17301938 C T rs373411612 MYO9B Synonymous SNV P907P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.79 156935 chr16 89813093 89813093 G C rs138417003 FANCA Nonsynonymous SNV L1138V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 12.72 156936 chr19 13135990 13135990 G A rs369196245 NFIX Synonymous SNV L60L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 4.914 156937 chr8 98943570 98943570 G A rs34354598 MATN2 Nonsynonymous SNV A178T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 156938 chr8 98991129 98991129 C T rs146982976 MATN2 Nonsynonymous SNV A325V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.3 156939 chr19 14517319 14517319 C G rs146888178 ADGRE5 Nonsynonymous SNV I573M 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 24.6 156940 chr17 4575925 4575925 G A rs144331998 PELP1 Synonymous SNV S787S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 10.49 156941 chr17 4576216 4576216 G A rs147763003 PELP1 Synonymous SNV P690P 0.004 0.008 0.007 1 5 3 0.003 2 0 0 1 0 0.092 156942 chr17 4623860 4623860 C T rs34923832 ARRB2 Nonsynonymous SNV P351L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 11.68 156943 chr19 18121454 18121454 G C rs147293119 ARRDC2 Synonymous SNV P357P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.889 156944 chr19 15164600 15164600 C T rs61750055 CASP14 Synonymous SNV P78P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 156945 chr19 18119891 18119891 C T rs755826943 ARRDC2 Synonymous SNV V146V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.19 156946 chr17 40140903 40140903 T G rs199917421 DNAJC7 Synonymous SNV A199A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.13 156947 chr17 47656558 47656558 G A rs753400852 NXPH3 Nonsynonymous SNV V219I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.905 156948 chr17 4805253 4805253 A G rs150868720 CHRNE Synonymous SNV D158D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.855 156949 chr19 18376825 18376825 G A rs185412321 IQCN Nonsynonymous SNV R509C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.9 156950 chr17 17801972 17801972 G T rs139022042 TOM1L2 Synonymous SNV R52R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.35 156951 chr17 17924457 17924457 G A rs761788938 ATPAF2 Nonsynonymous SNV R238C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 156952 chr17 17929709 17929709 A G rs144484457 ATPAF2 Synonymous SNV L116L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.44 156953 chr17 18030107 18030107 A G rs760946312 MYO15A Nonsynonymous SNV H1290R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 156954 chr17 18045442 18045442 A G rs369116650 MYO15A Nonsynonymous SNV H1900R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.23 156955 chr17 41448771 41448771 T C rs143963466 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 3.878 156956 chr19 2222174 2222174 C T rs763445435 DOT1L Synonymous SNV P1002P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 156957 chr8 133036880 133036880 T C rs367950487 OC90 Nonsynonymous SNV S428G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 156958 chr17 49357458 49357458 G A rs199856341 UTP18 Nonsynonymous SNV A369T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 156959 chr17 42992526 42992526 G C rs147282497 GFAP Nonsynonymous SNV T110S 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Uncertain significance 8.136 156960 chr8 134239663 134239663 A G rs762593331 CCN4 Nonsynonymous SNV K27E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 156961 chr8 139151296 139151296 C A rs116855100 FAM135B Synonymous SNV L1278L 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 15.61 156962 chr8 139635975 139635975 C T rs148437683 COL22A1 Synonymous SNV P1257P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 12.63 156963 chr17 4607215 4607215 T C rs202145012 PELP1 Synonymous SNV P64P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.779 156964 chr17 56355397 56355397 G A rs28730837 MPO Nonsynonymous SNV A332V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24.5 156965 chr1 229568755 229568755 G A rs143948837 ACTA1 Synonymous SNV I36I 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.54 156966 chr19 2877872 2877872 G A rs146963973 ZNF556 Nonsynonymous SNV V305M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.662 156967 chr19 18183013 18183013 C T rs144647048 IL12RB1 Synonymous SNV S310S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.25 156968 chr1 233464543 233464543 G T MAP3K21 Nonsynonymous SNV V257L 0.002 0 0 0 2 0 0 0 0 0 0 0 31 156969 chr19 50193500 50193500 C - rs1039925603 ADM5 P72Qfs*30 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 156970 chr19 50243123 50243123 G T rs775353318 TSKS Nonsynonymous SNV N563K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 9.836 156971 chr19 45900065 45900065 G A rs749122156 PPP1R13L Synonymous SNV G150G 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 1.528 156972 chr19 31039631 31039631 C T rs149816388 ZNF536 Synonymous SNV I1035I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.442 156973 chr1 23520575 23520575 G A rs747145800 HTR1D Synonymous SNV S46S 0.015 0 0 2 18 0 0.005 0 0 0 0 0 12.34 156974 chr17 27030897 27030897 T G rs151135532 PROCA1 Nonsynonymous SNV K114N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 156975 chr17 48655555 48655555 G A rs200203979 CACNA1G Nonsynonymous SNV C644Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.23 156976 chr17 27379984 27379984 A C rs746064574 PIPOX Nonsynonymous SNV K104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 156977 chr17 48941331 48941331 C T rs765789376 TOB1 Synonymous SNV L16L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.576 156978 chr19 19017899 19017899 C G rs145639224 COPE Nonsynonymous SNV D105H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29 156979 chr19 4683077 4683077 G A rs1046584416 DPP9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 156980 chr19 3544812 3544812 C T rs200371465 MFSD12 Nonsynonymous SNV R463Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.5 156981 chr19 19654517 19654517 G A rs146711114 CILP2 Nonsynonymous SNV R388Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.616 156982 chr19 34838865 34838865 C T rs201989393 KIAA0355 Nonsynonymous SNV R869W 0.003 0 0 0 3 0 0 0 0 0 0 0 27.8 156983 chr1 237711760 237711760 C A RYR2 Nonsynonymous SNV A979D 0.002 0 0 0 2 0 0 0 0 0 0 0 34 156984 chr8 145000969 145000969 G A rs376359597 PLEC Nonsynonymous SNV R1329C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.1 156985 chr17 33498350 33498350 A G rs761898634 UNC45B Nonsynonymous SNV K488E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 156986 chr17 56770145 56770145 C T rs568912602 RAD51C Synonymous SNV S47S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.45 156987 chr17 59924539 59924539 C A rs201047375 BRIP1 Nonsynonymous SNV D184Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 156988 chr19 35832389 35832389 G A rs35715143 CD22 Nonsynonymous SNV G374R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 156989 chr8 145154482 145154482 G A rs369818264 SHARPIN Synonymous SNV S233S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.741 156990 chr8 145154487 145154487 C T rs201668898 SHARPIN Nonsynonymous SNV A232T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.214 156991 chr19 5229526 5229526 C T PTPRS Synonymous SNV K762K 0 0.005 0 0 0 2 0 0 0 0 0 0 13.11 156992 chr19 36212136 36212136 G A rs568211123 KMT2B Synonymous SNV P629P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 156993 chr19 32954359 32954359 C G rs747919844 DPY19L3 Synonymous SNV T470T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.48 156994 chr19 3831476 3831476 G C rs148517103 ZFR2 Nonsynonymous SNV P226R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.044 156995 chr19 50412402 50412402 G A rs150097126 NUP62 Synonymous SNV L221L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.875 156996 chr17 7286359 7286359 C T rs17732702 TNK1 Synonymous SNV F38F 0.006 0.003 0.007 6 7 1 0.015 2 0 0 0 0 14.83 156997 chr17 7287558 7287558 T C rs17853470 TNK1 Synonymous SNV P284P 0.006 0.003 0.007 6 7 1 0.015 2 0 0 0 0 10.48 156998 chr17 7306989 7306989 G A rs61736089 TMEM256 Synonymous SNV A35A 0.006 0 0.007 6 7 0 0.015 2 0 0 0 0 15.33 156999 chr6 20118692 20118692 C G MBOAT1 Synonymous SNV S329S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 157000 chr17 7366117 7366117 G A rs144607759 ZBTB4 Synonymous SNV C728C 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.036 157001 chr9 26996373 26996373 A G rs139456311 LRRC19 Synonymous SNV I240I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.557 157002 chr1 2537012 2537012 G A rs757865275 MMEL1 Synonymous SNV G267G 0.003 0 0 0 3 0 0 0 0 0 0 0 3.341 157003 chr17 7339525 7339525 G T rs147336927 TMEM102 Nonsynonymous SNV R76L 0 0 0.01 0 0 0 0 3 0 0 0 0 27.4 157004 chr19 39805379 39805379 G A rs992431052 LRFN1 Nonsynonymous SNV H200Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 157005 chr17 7339526 7339526 C T rs141018399 TMEM102 Synonymous SNV R76R 0 0 0.01 0 0 0 0 3 0 0 0 0 13.42 157006 chr17 74392837 74392837 G A rs112073899 UBE2O Synonymous SNV S727S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.31 157007 chr17 3954087 3954087 G A rs146287047 ZZEF1 Nonsynonymous SNV H1951Y 0.003 0 0 0 3 0 0 0 0 0 0 0 23 157008 chr19 4174880 4174880 G T SIRT6 Nonsynonymous SNV H169N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 157009 chr19 52942075 52942075 C G rs374462017 ZNF534 Synonymous SNV T426T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 3.233 157010 chr19 42219792 42219792 T C CEACAM5 Synonymous SNV N309N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.11 157011 chr19 40928759 40928759 G A rs200693640 SERTAD1 Nonsynonymous SNV P232L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 157012 chr19 42861122 42861122 C T rs778751036 MEGF8 Nonsynonymous SNV R1540W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 157013 chr19 4174658 4174658 G C rs192661013 SIRT6 Nonsynonymous SNV H243D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 157014 chr19 56614334 56614334 C T rs932360658 ZNF787 Nonsynonymous SNV G85R 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 7.182 157015 chr17 7496322 7496322 T C rs528277889 FXR2 Nonsynonymous SNV N503S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 157016 chr19 5661700 5661700 C G SAFB Nonsynonymous SNV H520Q 0 0.005 0 2 0 2 0.005 0 0 0 0 0 1.075 157017 chr17 40344303 40344305 CAC - rs368300587 GHDC W281del 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 157018 chr17 4098747 4098747 T C rs199871848 ANKFY1 Nonsynonymous SNV I417V 0.003 0 0 0 3 0 0 0 0 0 0 0 15.59 157019 chr1 33960712 33960712 G A rs200183584 ZSCAN20 Nonsynonymous SNV R923H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 32 157020 chr17 42082417 42082417 C G rs758823626 NAGS Nonsynonymous SNV T129S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.029 157021 chr19 42873811 42873811 G A rs376007307 MEGF8 Nonsynonymous SNV R2190H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 157022 chr19 57956740 57956740 - A rs148699125 ZNF749 Frameshift insertion T657Nfs*9 0.001 0.005 0 0 1 2 0 0 0 0 0 0 157023 chr6 43323334 43323334 C G ZNF318 Nonsynonymous SNV E580Q 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 25.1 157024 chr1 38148990 38148990 C A C1orf109 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 24.6 157025 chr17 79073793 79073793 C T rs146015006 BAIAP2 Synonymous SNV T185T 0.014 0.013 0.01 2 16 5 0.005 3 1 0 0 0 Benign 13.33 157026 chr17 77984464 77984464 C T rs200995433 TBC1D16 Nonsynonymous SNV E92K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 157027 chr19 58213826 58213826 C T rs61738876 ZNF154 Nonsynonymous SNV S164N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.25 157028 chr17 78039311 78039311 G A rs200902099 CCDC40 Nonsynonymous SNV V490M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 157029 chr19 4511487 4511487 T C rs373577052 PLIN4 Nonsynonymous SNV K829E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 157030 chr17 7809473 7809473 C T rs144649037 SCARNA21 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 157031 chr17 7819252 7819252 G C rs757342948 RNF227 Nonsynonymous SNV R88G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 157032 chr1 41013046 41013046 G C rs141850834 ZNF684 Nonsynonymous SNV G351R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.9 157033 chr9 99122479 99122479 C A rs78359888 SLC35D2 Nonsynonymous SNV V102F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.5 157034 chr17 79863263 79863263 A G rs757532235 PCYT2 Nonsynonymous SNV Y268H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 157035 chr19 55865861 55865861 G T rs375376285 COX6B2 Nonsynonymous SNV P10H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 157036 chr19 4446062 4446062 A C rs150530113 UBXN6 Nonsynonymous SNV L342W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 157037 chr19 45575483 45575483 G A rs1006062076 ZNF296 Synonymous SNV C268C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.404 157038 chr9 104171770 104171770 G A rs61755102 ZNF189 Nonsynonymous SNV D560N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.5 157039 chr17 80159733 80159733 G A CCDC57 Stop gain Q30X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 157040 chr17 80656359 80656359 C T RAB40B Synonymous SNV A38A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 157041 chr17 79893270 79893270 C T rs138261889 PYCR1 Synonymous SNV E87E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.312 157042 chr19 56372840 56372840 A G rs1056768846 NLRP4 Nonsynonymous SNV T649A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 157043 chr19 7682682 7682682 C T CAMSAP3 Synonymous SNV R1163R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.9 157044 chr1 47838652 47838652 A G rs72553947 CMPK1 Nonsynonymous SNV N66S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.74 157045 chr19 8181577 8181577 T C rs769010145 FBN3 Synonymous SNV P1231P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.441 157046 chr19 4891520 4891520 A G ARRDC5 Synonymous SNV C175C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 157047 chr19 46973001 46973001 C G rs368614597 PNMA8A Nonsynonymous SNV R431P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 14.95 157048 chr19 47207846 47207846 G A rs144404837 PRKD2 Nonsynonymous SNV A34V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.4 157049 chr6 76660397 76660397 T C rs3734312 IMPG1 Nonsynonymous SNV K491R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.88 157050 chr18 23807211 23807211 A G TAF4B Nonsynonymous SNV Q105R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 157051 chr18 21437853 21437853 C T rs370165878 LAMA3 Synonymous SNV S1394S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.29 157052 chr17 56329775 56329775 - CCAT rs368901060 LPO Frameshift insertion G257Pfs*9 0.001 0 0.003 0 1 0 0 1 0 0 0 0 157053 chr6 80223151 80223151 A C LCA5 Nonsynonymous SNV N166K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 157054 chr19 49094943 49094943 G A rs149312079 SULT2B1 Synonymous SNV K152K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.36 157055 chr18 28711626 28711626 C G rs140921440 DSC1 Synonymous SNV V806V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 157056 chr6 88125514 88125514 C T rs762227802 CFAP206 Nonsynonymous SNV R132W 0 0 0 2 0 0 0.005 0 0 0 0 0 32 157057 chr18 29052700 29052700 A G rs937614171 DSG3 Nonsynonymous SNV I684V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 157058 chr19 49167860 49167860 T G rs148717503 NTN5 Nonsynonymous SNV I266L 0.011 0.005 0.007 3 13 2 0.008 2 0 0 0 0 8.203 157059 chr18 29055855 29055855 G A rs753295246 DSG3 Nonsynonymous SNV G878S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.368 157060 chr9 125391731 125391731 G C rs75006893 OR1B1 Synonymous SNV L28L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.027 157061 chr18 39620702 39620702 T C rs61755416 PIK3C3 Synonymous SNV I637I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.364 157062 chr18 43246923 43246923 C T rs150939891 SLC14A2 Synonymous SNV S527S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 7.294 157063 chr18 45375015 45375015 C T rs1051066 SMAD2 Synonymous SNV S246S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.37 157064 chr18 44140421 44140421 C T rs1010276992 LOXHD1 Nonsynonymous SNV V896M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 157065 chr9 130164907 130164907 T G rs754200885 SLC2A8 Nonsynonymous SNV C37G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 157066 chr18 46383964 46383964 G A rs113570978 CTIF Synonymous SNV L511L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.58 157067 chr19 5047549 5047549 C T rs142693998 KDM4B Synonymous SNV C165C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.38 157068 chr18 55103938 55103938 G A rs377378656 ONECUT2 Synonymous SNV L330L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.847 157069 chr19 51532610 51532610 G T rs774412030 KLK12 Nonsynonymous SNV T122N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 157070 chr19 51581350 51581350 G A rs377295815 KLK14 Nonsynonymous SNV R224C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 28.8 157071 chr19 868105 868105 G A rs146602511 MED16 Nonsynonymous SNV P877L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.5 157072 chr19 52618855 52618855 T C ZNF616 Nonsynonymous SNV Y521C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 157073 chr6 125621700 125621700 G A rs12213371 HDDC2 Nonsynonymous SNV R64C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.9 157074 chr18 60052011 60052011 C T rs768415189 TNFRSF11A Nonsynonymous SNV T215M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 157075 chr1 110527737 110527737 G A rs749838112 AHCYL1 Synonymous SNV E21E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 157076 chr6 135250192 135250192 T G rs370245282 ALDH8A1 Nonsynonymous SNV K287N 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 157077 chr6 139222143 139222143 T C ECT2L Nonsynonymous SNV S825P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.2 157078 chr9 135418363 135418363 A C CFAP77 Nonsynonymous SNV S221R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 157079 chr9 135864458 135864458 C A rs376762177 GFI1B Nonsynonymous SNV T174N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.6 157080 chr17 73555478 73555478 G A rs141069900 LLGL2 Nonsynonymous SNV A173T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 157081 chr18 74153911 74153911 G A rs771052994 ZNF516 Nonsynonymous SNV A367V 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.203 157082 chr1 90179937 90179937 G A rs780885370 LRRC8C Nonsynonymous SNV R603H 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 157083 chr19 55176615 55176615 G A rs745574694 LILRB4 Synonymous SNV G276G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.264 157084 chr18 72997778 72997778 C T rs202178783 TSHZ1 Nonsynonymous SNV S139L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.5 157085 chr9 139110948 139110948 T C rs201765666 QSOX2 Nonsynonymous SNV K295R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.814 157086 chr17 74569317 74569317 G T rs141454499 ST6GALNAC2 Nonsynonymous SNV R164S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 25.1 157087 chr19 55742028 55742028 C T rs752585609 PPP6R1 Synonymous SNV P865P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.891 157088 chr17 74622811 74622811 G A rs777118605 ST6GALNAC1 Synonymous SNV Y411Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.872 157089 chr19 54625272 54625272 G A rs759141690 PRPF31 Nonsynonymous SNV R91H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 157090 chr1 99753658 99753658 T A rs148143169 PLPPR4 Synonymous SNV I120I 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 14.13 157091 chr19 56000843 56000843 C T SSC5D Nonsynonymous SNV R59W 0.001 0 0 3 1 0 0.008 0 0 0 0 1 33 157092 chr9 139879185 139879185 C T rs201231448 LCNL1 Stop gain R73X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 35 157093 chr9 139944385 139944385 G A rs377411787 ENTPD2 Synonymous SNV P362P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.415 157094 chr19 1055295 1055295 G C ABCA7 Nonsynonymous SNV G1384R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 157095 chr1 1389775 1389775 G C rs368947656 ATAD3C Synonymous SNV A91A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.668 157096 chr1 1389778 1389778 A - ATAD3C A93Pfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 157097 chr1 1389780 1389780 - T ATAD3C Frameshift insertion V94Rfs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 157098 chr1 1389781 1389781 C T rs534134875 ATAD3C Synonymous SNV A93A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.19 157099 chr1 1389785 1389785 A G ATAD3C Nonsynonymous SNV T95A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 157100 chr1 1389787 1389787 T C rs752358820 ATAD3C Synonymous SNV T95T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.092 157101 chr17 76567033 76567033 C T rs146966249 DNAH17 Synonymous SNV T305T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.942 157102 chr19 55872101 55872101 A G rs1054897171 FAM71E2 Nonsynonymous SNV I283T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.69 157103 chr10 329344 329344 T C rs149699277 DIP2C Nonsynonymous SNV I1388V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.04 157104 chr19 11034281 11034281 C T rs372686960 YIPF2 Nonsynonymous SNV G203R 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 24.5 157105 chr17 76972141 76972141 G T LGALS3BP Nonsynonymous SNV D50E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 157106 chr19 5692169 5692171 CTT - rs751060700 LONP1 K722del 0.001 0 0 0 1 0 0 0 0 0 0 0 157107 chr17 7788166 7788166 G A rs772711535 CHD3 Synonymous SNV E14E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.78 157108 chr19 1254435 1254435 C T rs367911227 MIDN Synonymous SNV A218A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 157109 chr19 13220781 13220781 C T rs201563082 TRMT1 Nonsynonymous SNV G91R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 157110 chr1 150975172 150975172 A G rs745363932 MINDY1 Synonymous SNV F22F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.243 157111 chr19 56538532 56538532 A G rs375051517 NLRP5 Synonymous SNV G311G 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.023 157112 chr19 11448058 11448058 G A rs377182248 RAB3D Synonymous SNV D6D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.183 157113 chr17 79526396 79526396 G A rs368004865 NPLOC4 Synonymous SNV V577V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.581 157114 chr10 13702421 13702421 C T FRMD4A Nonsynonymous SNV R289H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 157115 chr1 11728866 11728866 A G rs138203471 FBXO6 Nonsynonymous SNV M51V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 157116 chr19 1468062 1468062 G A rs375490852 APC2 Nonsynonymous SNV E1587K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 157117 chr19 16178515 16178515 G T TPM4 Synonymous SNV A27A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 157118 chr1 155307492 155307492 T G rs753022546 ASH1L Synonymous SNV R2957R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.722 157119 chr19 16606639 16606639 T C CALR3 Nonsynonymous SNV Q39R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 157120 chr18 10807184 10807184 C T rs368601054 PIEZO2 Nonsynonymous SNV A336T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 23.6 157121 chr18 12094214 12094214 C T ANKRD62 Synonymous SNV N66N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.304 157122 chr19 8046033 8046033 G A rs779387165 ELAVL1 Synonymous SNV T70T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 157123 chr1 12704587 12704587 C T rs755982190 AADACL4 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.394 157124 chr19 58879408 58879408 C T ZNF837 Nonsynonymous SNV R431H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 157125 chr1 1293849 1293849 A G rs141281278 MXRA8 Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 157126 chr1 14099636 14099636 C T rs148892113 PRDM2 Nonsynonymous SNV T192I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 157127 chr7 21904186 21904186 G T DNAH11 Stop gain E3803X 0.003 0 0 3 3 0 0.008 0 0 0 0 0 58 157128 chr7 21939611 21939611 G C rs79449551 DNAH11 Synonymous SNV T4392T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 12.57 157129 chr19 8131065 8131065 A G FBN3 Nonsynonymous SNV I2723T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 157130 chr20 39978802 39978802 C T rs199833812 LPIN3 Synonymous SNV G290G 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 13.59 157131 chr1 150444671 150444671 G A rs757842151 RPRD2 Nonsynonymous SNV A1057T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 157132 chr19 8997531 8997533 TGG - MUC16 A13630_S13631delinsG 0.002 0 0 0 2 0 0 0 0 0 0 0 157133 chr19 8997536 8997536 - GCT MUC16 A13629delinsEP 0.002 0 0 0 2 0 0 0 0 0 0 0 157134 chr19 7142936 7142936 G A rs758546024 INSR Synonymous SNV G799G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.39 157135 chr19 17838184 17838184 C T rs762402215 MAP1S Nonsynonymous SNV A638V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.311 157136 chr1 160141527 160141527 T C ATP1A4 Nonsynonymous SNV C612R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 157137 chr7 31877578 31877578 G A rs754659378 PDE1C Stop gain R330X 0.003 0 0 2 4 0 0.005 0 0 0 0 0 45 157138 chr1 161183265 161183265 G A rs145959971 NDUFS2 Synonymous SNV K404K 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 18.65 157139 chr19 2399079 2399079 G T rs150446615 TMPRSS9 Synonymous SNV T100T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 157140 chr19 18308430 18308430 G A rs41278196 RAB3A Synonymous SNV N171N 0.007 0.008 0.007 1 8 3 0.003 2 0 0 0 0 10.74 157141 chr18 42532219 42532219 C T rs777055072 SETBP1 Nonsynonymous SNV R972W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 157142 chr19 9002659 9002659 C T rs202242242 MUC16 Nonsynonymous SNV G13386E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 157143 chr19 9002660 9002660 C T rs747536007 MUC16 Nonsynonymous SNV G13386R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 157144 chr19 9002661 9002661 A G rs200698566 MUC16 Synonymous SNV D13385D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.211 157145 chr19 30054821 30054821 C T rs567862790 VSTM2B Nonsynonymous SNV R280C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 157146 chr19 308582 308582 C T rs200171246 MIER2 Nonsynonymous SNV R362H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.734 157147 chr19 18468421 18468421 G A rs367878913 PGPEP1 Nonsynonymous SNV G68S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 157148 chr19 9004887 9004887 A G rs372357733 MUC16 Nonsynonymous SNV S13311P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 157149 chr19 33096827 33096827 G A rs138949628 ANKRD27 Nonsynonymous SNV P803S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 157150 chr10 61005093 61005095 AGG - PHYHIPL G266del 0 0 0 1 0 0 0.003 0 0 0 0 0 157151 chr19 33697060 33697060 T C rs777139441 LRP3 Nonsynonymous SNV C462R 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 157152 chr1 154461587 154461587 C T rs145037628 SHE Nonsynonymous SNV A322T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.9 157153 chr19 21990999 21990999 T G ZNF43 Nonsynonymous SNV K549Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 157154 chr18 54446735 54446735 C T rs34678096 WDR7 Synonymous SNV P974P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 17.85 157155 chr20 57566088 57566088 G A NELFCD Synonymous SNV L304L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 7.283 157156 chr1 155160270 155160270 C T rs1611770 MUC1 Nonsynonymous SNV V100M 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 24.6 157157 chr1 155166890 155166890 G A rs753293299 THBS3 Nonsynonymous SNV R752W 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 33 157158 chr1 155263006 155263006 G A PKLR Synonymous SNV C466C 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 9.931 157159 chr19 3011070 3011070 C G rs775503525 TLE2 Nonsynonymous SNV S199T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 157160 chr1 156621251 156621251 C T rs12065791 BCAN Nonsynonymous SNV S356L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 21 157161 chr19 3661925 3661925 G A rs374991223 PIP5K1C Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 157162 chr19 37130285 37130285 C A ZNF461 Nonsynonymous SNV R298I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 157163 chr18 63525163 63525163 T C CDH7 Synonymous SNV N449N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.466 157164 chr19 35251386 35251386 A C ZNF599 Nonsynonymous SNV L107R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 157165 chr1 156844777 156844777 G A rs56320207 NTRK1 Nonsynonymous SNV R438Q 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign 20 157166 chr19 35251389 35251389 T C ZNF599 Nonsynonymous SNV E106G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 157167 chr1 100176385 100176385 T C rs377320902 FRRS1 Nonsynonymous SNV H534R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.52 157168 chr1 180910397 180910397 C A rs144194721 KIAA1614 Synonymous SNV A1045A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.34 157169 chr19 9922032 9922032 C T rs139433783 FBXL12 Nonsynonymous SNV R141H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.9 157170 chr19 38959644 38959644 C G rs201599911 RYR1 Synonymous SNV R1140R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.71 157171 chr19 39125672 39125672 G A rs199953066 EIF3K Nonsynonymous SNV S154N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.43 157172 chr1 109888432 109888432 T C rs141749679 SORT1 Nonsynonymous SNV K165E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 20.7 157173 chr7 82997090 82997090 A G SEMA3E Synonymous SNV L654L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.093 157174 chr1 103352460 103352460 T C rs375667862 COL11A1 Synonymous SNV K1471K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.889 157175 chr19 3978114 3978114 G A rs145540039 EEF2 Synonymous SNV L590L 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Benign 9.73 157176 chr10 91099227 91099230 CAAA - rs766729922 IFIT3 N273Mfs*16 0 0 0 1 0 0 0.003 0 0 0 0 0 157177 chr10 95083040 95083040 G A rs199815755 MYOF Nonsynonymous SNV R1770W 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 35 157178 chr19 40224985 40224985 T G rs143109041 CLC Nonsynonymous SNV M81L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.137 157179 chr19 40363221 40363221 C T rs140298192 FCGBP Nonsynonymous SNV R4950Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 157180 chr19 1000724 1000724 G A rs532635834 GRIN3B Synonymous SNV V96V 0.003 0.005 0 0 3 2 0 0 0 1 0 0 3.432 157181 chr1 159912846 159912846 G - rs753928344 IGSF9 L52Cfs*79 0.002 0 0 4 2 0 0.01 0 0 0 0 0 157182 chr1 1139529 1139529 C T rs150875122 TNFRSF18 Synonymous SNV P162P 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 1.218 157183 chr19 37854273 37854273 G A rs141902493 ZNF875 Nonsynonymous SNV V466I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.07 157184 chr19 41248549 41248549 G A rs149384660 C19orf54 Nonsynonymous SNV P110L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.341 157185 chr19 38652963 38652963 G A rs62121443 SIPA1L3 Synonymous SNV P1244P 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 12.42 157186 chr1 112028387 112028387 C T rs754401572 TMIGD3 Synonymous SNV R147R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 157187 chr19 38694782 38694782 G C rs148414429 SIPA1L3 Synonymous SNV L1712L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.921 157188 chr19 42125639 42125639 C T rs8113662 CEACAM4 Synonymous SNV T227T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.034 157189 chr1 114252924 114252924 G T rs201590693 PHTF1 Synonymous SNV T121T 0.003 0 0 2 4 0 0.005 0 1 0 0 0 2.041 157190 chr19 42221418 42221418 G A rs75927810 CEACAM5 Nonsynonymous SNV V335M 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 8.603 157191 chr21 30715000 30715000 G A rs538792166 BACH1 Nonsynonymous SNV G686E 0.005 0 0 0 6 0 0 0 0 0 0 0 2.887 157192 chr1 162729613 162729613 C T rs56351141 DDR2 Synonymous SNV T233T 0.008 0.005 0.014 2 9 2 0.005 4 0 0 0 0 Conflicting interpretations of pathogenicity 13.31 157193 chr1 114942178 114942178 T C rs918905055 TRIM33 Synonymous SNV K1007K 0.003 0 0 0 3 0 0 0 0 0 0 0 3.292 157194 chr10 99510140 99510140 A G rs753246302 ZFYVE27 Synonymous SNV E121E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.379 157195 chr10 99969586 99969586 C T rs202079641 R3HCC1L Nonsynonymous SNV A572V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.88 157196 chr19 3918811 3918811 C G rs750308240 ATCAY Nonsynonymous SNV P337A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.242 157197 chr1 1132551 1132551 G A rs375362563 TTLL10 Nonsynonymous SNV V533I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 157198 chr1 165378890 165378890 G A rs138711363 RXRG Synonymous SNV R194R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.24 157199 chr1 114940386 114940386 G T rs55784699 TRIM33 Nonsynonymous SNV P1073T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 22.4 157200 chr1 115166194 115166194 C T DENND2C Nonsynonymous SNV G293R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16 157201 chr19 44096817 44096817 G C rs200332851 IRGQ Synonymous SNV A411A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.697 157202 chr19 11277278 11277278 T C rs117057052 KANK2 Nonsynonymous SNV M846V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.19 157203 chr10 104140421 104140421 C A rs771928515 GBF1 Synonymous SNV L1713L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.46 157204 chr1 117122291 117122291 C G rs569343519 IGSF3 Nonsynonymous SNV E1019D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.106 157205 chr19 12060587 12060587 A G rs181074027 ZNF700 Nonsynonymous SNV E586G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.564 157206 chr1 1262958 1262958 G A rs142975407 CPTP Nonsynonymous SNV V154M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 157207 chr19 41744462 41744462 A C rs141929169 AXL Nonsynonymous SNV Q93P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.7 157208 chr21 41414386 41414386 C T rs372886630 DSCAM Synonymous SNV S1866S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 157209 chr19 44833069 44833069 T A ZNF112 Nonsynonymous SNV Y353F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.705 157210 chr1 118486224 118486224 G A WDR3 Nonsynonymous SNV A435T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 157211 chr19 42406173 42406173 C T rs782645744 ARHGEF1 Synonymous SNV I435I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 157212 chr1 145474174 145474174 T C ANKRD34A Synonymous SNV G282G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.624 157213 chr1 145539052 145539052 G A rs782251645 ITGA10 Nonsynonymous SNV G855S 0.003 0 0 0 3 0 0 0 0 0 0 0 28.9 157214 chr19 42839324 42839324 T C MEGF8 Synonymous SNV A232A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.756 157215 chr19 42866283 42866283 C T rs763036582 MEGF8 Nonsynonymous SNV S1854F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 157216 chr19 1468527 1468527 G A rs768024286 APC2 Nonsynonymous SNV G1742R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.439 157217 chr1 12429624 12429624 C - VPS13D P3534Hfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 157218 chr1 1250800 1250800 G A INTS11 Nonsynonymous SNV P85S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 157219 chr19 14877180 14877180 G T ADGRE2 Stop gain C167X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 157220 chr1 1271605 1271605 C A rs374440563 DVL1 Nonsynonymous SNV V669F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 157221 chr1 150967126 150967126 G C rs774818913 ANXA9 Nonsynonymous SNV R309T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 157222 chr19 44284867 44284867 G A rs529853437 KCNN4 Synonymous SNV F49F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.17 157223 chr1 1290695 1290695 G C rs375568751 MXRA8 Nonsynonymous SNV T35S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.84 157224 chr1 17555231 17555231 C T rs149173445 PADI1 Nonsynonymous SNV T255I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.13 157225 chr19 45659113 45659113 C T rs372621853 NKPD1 Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.379 157226 chr1 152083996 152083996 C T rs774691402 TCHH Nonsynonymous SNV R566Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 157227 chr1 206240188 206240188 G A rs147914249 RHEX Synonymous SNV S88S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 14.6 157228 chr10 120925142 120925142 C T rs138503057 SFXN4 Synonymous SNV E6E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 10.78 157229 chr19 46997435 46997435 C A rs779093120 PNMA8B Nonsynonymous SNV A430S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.493 157230 chr1 208391027 208391027 C A rs79601528 PLXNA2 Nonsynonymous SNV V81L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 23.7 157231 chr7 100656283 100656283 C T rs760780312 MUC12 Synonymous SNV A5166A 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 14.46 157232 chr1 15420859 15420859 C T rs146471978 KAZN Nonsynonymous SNV T469M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.7 157233 chr1 214504330 214504330 C T SMYD2 Nonsynonymous SNV P285L 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 26.7 157234 chr19 48619154 48619154 C T rs35100567 LIG1 Synonymous SNV P816P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 13.59 157235 chr10 126715833 126715833 G A rs764919028 CTBP2 Nonsynonymous SNV R166W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24 157236 chr10 129907173 129907173 T G rs139279267 MKI67 Nonsynonymous SNV K617N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.939 157237 chr10 134143854 134143854 T C rs190619910 STK32C Nonsynonymous SNV I131V 0.002 0 0.02 2 2 0 0.005 6 0 0 0 0 3.585 157238 chr19 17396283 17396283 G C rs758369458 ANKLE1 Nonsynonymous SNV A437P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 157239 chr19 17397490 17397501 TGTGTGTGTGTT - rs563327402 ANKLE1 L591_C594del 0.002 0 0 0 2 0 0 0 0 0 0 0 157240 chr19 49388816 49388816 C T rs117499417 TULP2 Nonsynonymous SNV R317H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.024 157241 chr22 18354635 18354635 C T rs767797750 MICAL3 Nonsynonymous SNV R799H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 157242 chr1 156851382 156851382 G A rs35669708 NTRK1 Nonsynonymous SNV R774Q 0.005 0.008 0.024 1 6 3 0.003 7 0 0 0 0 Conflicting interpretations of pathogenicity 10.14 157243 chr10 134735672 134735672 A C CFAP46 Nonsynonymous SNV N514K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.349 157244 chr19 46973002 46973002 G A rs115395326 PNMA8A Nonsynonymous SNV R431C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 157245 chr19 46973315 46973315 G A rs61628326 PNMA8A Synonymous SNV A326A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.05 157246 chr19 46973693 46973693 C T rs73552938 PNMA8A Synonymous SNV P200P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 157247 chr1 19473377 19473377 T C UBR4 Nonsynonymous SNV M2583V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.77 157248 chr19 17837528 17837528 G A rs371381126 MAP1S Synonymous SNV L419L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.061 157249 chr1 19505595 19505595 G A UBR4 Synonymous SNV A768A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 5.6 157250 chr19 47127102 47127102 G A rs201651188 PTGIR Synonymous SNV Y127Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.807 157251 chr22 20077575 20077575 G A rs145885136 DGCR8 Nonsynonymous SNV S367N 0.006 0 0 1 7 0 0.003 0 0 0 0 0 1.238 157252 chr22 20786242 20786242 C G rs759342225 SCARF2 Nonsynonymous SNV R69S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 18.99 157253 chr10 135170456 135170456 - A FUOM Frameshift insertion E50Gfs*46 0 0 0 1 0 0 0.003 0 0 0 0 0 157254 chr19 50549005 50549005 G A rs146059590 ZNF473 Synonymous SNV E423E 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 8.074 157255 chr22 21348855 21348855 G A rs745516367 LZTR1 Nonsynonymous SNV E542K 0.004 0 0 0 5 0 0 0 0 0 0 0 22.8 157256 chr19 50970967 50970967 C T rs149322102 FAM71E1 Nonsynonymous SNV R220Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.1 157257 chr19 51051969 51051969 C T rs753942999 LRRC4B Nonsynonymous SNV V43M 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 23.2 157258 chr19 1978927 1978927 G T rs144771760 CSNK1G2 Nonsynonymous SNV V173L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.45 157259 chr19 519341 519341 G T rs550238099 TPGS1 Nonsynonymous SNV R264L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 22.1 157260 chr1 160064893 160064893 C T rs144014563 IGSF8 Nonsynonymous SNV E70K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 157261 chr19 2076974 2076974 T G rs141042584 MOB3A Nonsynonymous SNV K154Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.58 157262 chr1 157104004 157104004 C T ETV3 Synonymous SNV K100K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 157263 chr11 722710 722710 G A rs762870818 EPS8L2 Nonsynonymous SNV V416M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 157264 chr1 201355485 201355485 C T rs1009868369 LAD1 Nonsynonymous SNV R335H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.18 157265 chr1 201459447 201459447 A G CSRP1 Synonymous SNV S46S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.81 157266 chr1 160160775 160160775 C T rs775988203 CASQ1 Synonymous SNV D78D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 157267 chr1 160394010 160394010 C T rs140848403 VANGL2 Synonymous SNV Y414Y 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign 10.56 157268 chr19 49669447 49669447 - G rs754625848 TRPM4 Frameshift insertion A83Gfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 157269 chr19 23329065 23329065 C T rs570613743 ZNF730 Nonsynonymous SNV R407C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 157270 chr19 23836725 23836725 T C rs113689691 ZNF675 Nonsynonymous SNV E337G 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 23.8 157271 chr19 53384230 53384231 TC - ZNF320 R383Tfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 157272 chr1 204413258 204413258 C T rs140390757 PIK3C2B Synonymous SNV P935P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.61 157273 chr1 23399824 23399824 T C rs75011666 KDM1A Synonymous SNV D536D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 6.738 157274 chr19 3179253 3179253 G A rs151055104 S1PR4 Nonsynonymous SNV G155R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 157275 chr19 5456203 5456203 C T rs199777438 ZNRF4 Nonsynonymous SNV A234V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.844 157276 chr19 51159331 51159331 C T rs192383921 C19orf81 Nonsynonymous SNV T31I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 8.048 157277 chr1 169487686 169487686 C T rs35369423 F5 Synonymous SNV L2103L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.39 157278 chr19 33117700 33117700 T C rs761223304 ANKRD27 Nonsynonymous SNV K485R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 157279 chr19 51295022 51295022 C T rs774848290 ACP4 Nonsynonymous SNV P138L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 157280 chr19 33183186 33183186 C T rs766720164 NUDT19 Nonsynonymous SNV T107I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.16 157281 chr19 54759308 54759308 G A rs774662619 LILRB5 Stop gain Q165X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 157282 chr1 206905234 206905234 G A rs781819454 MAPKAPK2 Synonymous SNV K343K 0.005 0.008 0 0 6 3 0 0 0 0 0 0 14.06 157283 chr1 169677923 169677923 G C rs61761863 SELL Nonsynonymous SNV T36S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 4.356 157284 chr19 55179184 55179184 T C rs142100665 LILRB4 Synonymous SNV S410S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.002 157285 chr19 55179186 55179186 G A rs143761941 LILRB4 Nonsynonymous SNV G411E 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.001 157286 chr19 51525871 51525871 C T rs200362022 KLK11 Nonsynonymous SNV R228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 157287 chr1 172628488 172628488 G A rs61756244 FASLG Synonymous SNV P49P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.681 157288 chr19 35758225 35758225 C T rs777189002 LSR Nonsynonymous SNV T393I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.736 157289 chr1 173628536 173628536 C G rs139793889 ANKRD45 Nonsynonymous SNV E8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 157290 chr1 173628546 173628546 T A rs75071004 ANKRD45 Nonsynonymous SNV E4D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 157291 chr1 173939729 173939729 T C rs61738616 RC3H1 Synonymous SNV T416T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.051 157292 chr1 2117607 2117607 C G rs937645018 FAAP20 Nonsynonymous SNV G15A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.728 157293 chr1 167095718 167095718 C T rs139389530 DUSP27 Synonymous SNV V450V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.27 157294 chr11 1078538 1078538 C T rs41501548 MUC2 Nonsynonymous SNV A249V 0.005 0 0.007 8 6 0 0.021 2 0 0 0 0 23.3 157295 chr1 244572891 244572891 A G rs759638287 ADSS2 Synonymous SNV F456F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.803 157296 chr1 24663569 24663569 C T rs201073516 GRHL3 Nonsynonymous SNV S159L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 157297 chr1 246810824 246810824 C T rs201932123 CNST Nonsynonymous SNV R441C 0.002 0.008 0 5 2 3 0.013 0 0 0 0 1 13.14 157298 chr1 175355402 175355402 C T rs139629961 TNR Nonsynonymous SNV V182I 0.003 0 0 0 3 0 0 0 0 0 0 0 20.7 157299 chr1 178822085 178822085 C T ANGPTL1 Nonsynonymous SNV G341R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 157300 chr11 1272615 1272615 G A rs201832207 MUC5B Synonymous SNV T4835T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.209 157301 chr1 172579188 172579188 C G SUCO Nonsynonymous SNV T622R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 157302 chr19 56599827 56599827 G A rs1016730069 ZNF787 Synonymous SNV G238G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.656 157303 chr19 57134007 57134007 C T rs772535342 ZNF71 Nonsynonymous SNV S451F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 157304 chr19 54081140 54081140 G A ZNF331 Synonymous SNV K442K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.382 157305 chr1 183885746 183885746 C T rs780012312 RGL1 Nonsynonymous SNV P610S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.76 157306 chr19 38904085 38904085 G A rs370084081 RASGRP4 Synonymous SNV D231D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.89 157307 chr19 58131619 58131619 G T rs778838065 ZNF134 Nonsynonymous SNV L44F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 157308 chr1 185269440 185269440 G C rs139263536 IVNS1ABP Nonsynonymous SNV H426Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 157309 chr19 58472887 58472887 A C rs751875655 C19orf18 Nonsynonymous SNV L135R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 157310 chr1 225306982 225306982 C T rs150618371 DNAH14 Synonymous SNV F1384F 0.006 0 0.017 0 7 0 0 5 1 0 0 0 17.04 157311 chr1 186158925 186158925 G A rs148007859 HMCN1 Nonsynonymous SNV R5608Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 157312 chr19 39977069 39977069 C T rs141084794 TIMM50 Synonymous SNV P97P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 15.26 157313 chr1 1858100 1858100 C T rs116159725 CFAP74 Nonsynonymous SNV V1255I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.232 157314 chr19 40719529 40719529 C T rs779638919 MAP3K10 Nonsynonymous SNV A648V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.16 157315 chr1 26515918 26515918 C T CNKSR1 Nonsynonymous SNV S681F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.16 157316 chr19 40929007 40929007 C T rs757714537 SERTAD1 Synonymous SNV A149A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.507 157317 chr1 186413580 186413580 C T rs372016238 PDC Nonsynonymous SNV R39H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 157318 chr19 757669 757669 C T rs754864934 MISP Synonymous SNV N241N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.748 157319 chr22 50986892 50986892 G A rs771839566 KLHDC7B Synonymous SNV A740A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 10.68 157320 chr1 29474961 29474961 C T rs138994362 SRSF4 Synonymous SNV S482S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.21 157321 chr1 199997023 199997023 C T rs143373151 NR5A2 Synonymous SNV H16H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.181 157322 chr1 200378442 200378442 T C rs138253604 ZNF281 Nonsynonymous SNV K131R 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 14.01 157323 chr19 42746354 42746354 C A rs540584253 GSK3A Synonymous SNV P88P 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 22 157324 chr1 201951851 201951851 C A RNPEP Synonymous SNV S19S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 157325 chr19 42912229 42912229 C T rs147012229 LIPE Nonsynonymous SNV D519N 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 Benign 25.9 157326 chr19 4432059 4432059 C G rs547209645 CHAF1A Nonsynonymous SNV I686M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 157327 chr11 5626614 5626614 G C rs61758096 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV Q14H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.021 157328 chr1 202742395 202742395 A T KDM5B Nonsynonymous SNV F143I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 157329 chr1 34663035 34663035 C T C1orf94 Nonsynonymous SNV S177F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 157330 chr2 113482436 113482436 G C NT5DC4 Nonsynonymous SNV E264Q 0.006 0 0 0 7 0 0 0 0 0 0 0 23.3 157331 chr1 35658588 35658588 T G rs539662151 SFPQ Synonymous SNV G21G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 10.04 157332 chr1 236925773 236925773 G A rs1064796605 ACTN2 Nonsynonymous SNV A847T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 157333 chr1 38187335 38187335 G A rs764030792 EPHA10 Stop gain R715X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 157334 chr1 237942070 237942070 G A RYR2 Synonymous SNV Q3960Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 157335 chr1 241798771 241798771 C T rs781312564 CHML Nonsynonymous SNV E100K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 157336 chr1 20680350 20680350 C T rs375112766 VWA5B1 Nonsynonymous SNV T1081I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 157337 chr19 9524775 9524775 C T rs148389557 ZNF266 Nonsynonymous SNV A276T 0 0 0.01 0 0 0 0 3 0 0 0 0 23.4 157338 chr11 6566029 6566029 G A rs577579332 DNHD1 Nonsynonymous SNV R1287H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 157339 chr19 984510 984510 C G rs557836888 WDR18 Nonsynonymous SNV L53V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 157340 chr11 6630962 6630962 C T rs147558204 ILK Synonymous SNV V227V 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign/Likely benign 9.22 157341 chr1 46027475 46027475 T C AKR1A1 Synonymous SNV A3A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.993 157342 chr19 6733582 6733582 G A rs201134279 GPR108 Nonsynonymous SNV T241M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 157343 chr1 247471324 247471324 T C rs912549347 ZNF496 Nonsynonymous SNV M338V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.56 157344 chr1 214816416 214816418 AAG - CENPF K1579del 0.001 0 0 0 1 0 0 0 0 0 0 0 157345 chr19 48198704 48198704 C T rs555772254 BICRA Synonymous SNV S1053S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 157346 chr11 7669758 7669758 A G rs201968764 PPFIBP2 Nonsynonymous SNV D453G 0 0 0 1 0 0 0.003 0 0 0 0 0 31 157347 chr19 7614954 7614954 A G rs780340075 PNPLA6 Synonymous SNV Q590Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.112 157348 chr19 7914975 7914975 G A rs774283177 EVI5L Synonymous SNV G240G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.192 157349 chr1 110768710 110768710 T C rs57855778 KCNC4 Nonsynonymous SNV S577P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.5 157350 chr1 110768748 110768748 C T rs150591419 KCNC4 Synonymous SNV C589C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.9 157351 chr1 11105477 11105477 G A rs770109242 MASP2 Nonsynonymous SNV R178C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 157352 chr1 11140954 11140954 T C rs567990526 EXOSC10 Nonsynonymous SNV I485V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 157353 chr1 111968030 111968030 C T rs199847732 OVGP1 Nonsynonymous SNV G98S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 157354 chr19 831838 831838 C T rs747477444 AZU1 Synonymous SNV I239I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 157355 chr1 113239068 113239068 G A rs61742214 MOV10 Synonymous SNV S631S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 157356 chr19 49643287 49643287 C G PPFIA3 Synonymous SNV L770L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 157357 chr1 2237628 2237628 A G SKI Nonsynonymous SNV Q646R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 157358 chr1 223947107 223947107 G T CAPN2 Nonsynonymous SNV V407L 0.004 0 0 0 5 0 0 0 0 0 0 0 22.8 157359 chr1 26596094 26596094 C T rs146660703 CEP85 Synonymous SNV S495S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.95 157360 chr1 223949302 223949302 G A rs1054638889 CAPN2 Nonsynonymous SNV E439K 0.004 0 0 0 5 0 0 0 0 0 0 0 22.5 157361 chr1 223959906 223959906 G A rs200476814 CAPN2 Nonsynonymous SNV E604K 0.003 0.005 0.01 0 3 2 0 3 0 0 1 0 23.1 157362 chr1 67199543 67199543 G A rs140384550 SGIP1 Nonsynonymous SNV V474I 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 29.8 157363 chr11 18497187 18497187 G A rs145833201 LDHAL6A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.9 157364 chr1 27100182 27100182 G A rs370696498 ARID1A Synonymous SNV P1326P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 8.35 157365 chr1 27701301 27701301 T C rs147142056 FCN3 Synonymous SNV L3L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.027 157366 chr19 51015990 51015990 G A ASPDH Synonymous SNV A120A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 157367 chr1 1335012 1335012 A G rs912011630 MRPL20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 157368 chr1 29379640 29379640 G A rs556816482 EPB41 Nonsynonymous SNV R519Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 22.8 157369 chr1 229771013 229771013 C T rs146508738 URB2 Nonsynonymous SNV T218M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.2 157370 chr1 228336130 228336130 C T rs146725528 GUK1 Synonymous SNV Y199Y 0.007 0 0.007 0 8 0 0 2 0 0 0 0 12.93 157371 chr1 144930936 144930936 T A rs149242657 PDE4DIP Nonsynonymous SNV D258V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.507 157372 chr1 232564177 232564177 C G SIPA1L2 Nonsynonymous SNV V1464L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 157373 chr1 228496013 228496013 C T rs147355183 OBSCN Nonsynonymous SNV T4223M 0.006 0 0 0 7 0 0 0 0 0 0 0 25.1 157374 chr2 179308073 179308073 A G rs140157275 PRKRA Synonymous SNV Y134Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.199 157375 chr11 32637635 32637635 G C rs142525990 CCDC73 Nonsynonymous SNV T409S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 11.92 157376 chr1 233136192 233136192 G A rs377277630 PCNX2 Synonymous SNV H1729H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.532 157377 chr2 179623847 179623847 G T TTN Nonsynonymous SNV F3343L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 157378 chr1 104084063 104084063 G A rs574736349 RNPC3 Nonsynonymous SNV D287N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.8 157379 chr1 10689729 10689729 G A rs139518305 PEX14 Synonymous SNV S273S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.3 157380 chr11 46396584 46396584 A G rs77238695 DGKZ Nonsynonymous SNV M544V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 157381 chr1 37291214 37291214 C T rs371012951 GRIK3 Nonsynonymous SNV V582I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 157382 chr1 38265597 38265597 A G rs200921477 MANEAL Nonsynonymous SNV S144G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 157383 chr1 153751949 153751949 G A rs147511607 SLC27A3 Synonymous SNV Q625Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.758 157384 chr1 153954600 153954602 TTC - rs572146621 RAB13 K114del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 157385 chr19 53344534 53344534 T C rs746222445 ZNF468 Nonsynonymous SNV Y338C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 157386 chr1 154474384 154474384 T C rs544000805 SHE Nonsynonymous SNV K40R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.35 157387 chr1 24434562 24434562 C T rs200800591 MYOM3 Nonsynonymous SNV E55K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.8 157388 chr1 245222730 245222730 G A rs138478256 EFCAB2 Synonymous SNV T51T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.2 157389 chr1 110919703 110919703 A C rs79542476 SLC16A4 Nonsynonymous SNV S261A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.318 157390 chr1 247464107 247464107 G A rs768969794 ZNF496 Nonsynonymous SNV P493L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.94 157391 chr1 156263318 156263318 C T rs373837615 GLMP Nonsynonymous SNV R197Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 157392 chr1 247655034 247655034 C T OR2W5 Nonsynonymous SNV P202L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.959 157393 chr19 54967355 54967355 G C LENG8 Nonsynonymous SNV S412T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 157394 chr1 114515851 114515851 C T HIPK1 Nonsynonymous SNV P723L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 157395 chr2 196726598 196726598 G A rs201765082 DNAH7 Stop gain R2527X 0.005 0 0 0 6 0 0 0 0 0 0 0 36 157396 chr1 1152939 1152939 C G SDF4 Nonsynonymous SNV G348R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 157397 chr1 157668239 157668239 C T rs754133430 FCRL3 Nonsynonymous SNV G78E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.4 157398 chr1 11710791 11710791 C G rs61749273 FBXO2 Synonymous SNV A41A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.47 157399 chr1 46685452 46685452 T A rs1018781451 LURAP1 Nonsynonymous SNV L94M 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 15.17 157400 chr1 47882549 47882549 T C rs931817760 FOXE3 Nonsynonymous SNV Y188H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 157401 chr11 55595116 55595116 G A rs75822385 OR5L2 Nonsynonymous SNV R141H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.43 157402 chr20 17495439 17495439 T C rs759710563 BFSP1 Nonsynonymous SNV H29R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.115 157403 chr1 159805109 159805109 C T rs931695063 SNHG28 0 0 0.003 0 0 0 0 1 0 0 0 0 3.952 157404 chr1 160181487 160181487 C T PEA15 Synonymous SNV S51S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 157405 chr1 16332543 16332543 G A rs145827638 SRARP Nonsynonymous SNV R71Q 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.01 157406 chr1 167802318 167802318 T C ADCY10 Nonsynonymous SNV Y1014C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.102 157407 chr1 167806546 167806546 C A ADCY10 Nonsynonymous SNV K853N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 157408 chr2 219128217 219128217 T C rs373065865 GPBAR1 Nonsynonymous SNV L257P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 20.7 157409 chr1 3319455 3319455 G A rs557978089 PRDM16 Synonymous SNV A259A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 9.241 157410 chr1 152882772 152882801 GAGCAGCAGGAGGGACAGCTGAAGCACCCG - rs772656711 IVL K174_L183del 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 157411 chr1 33773048 33773048 - AGGT A3GALT2 Frameshift insertion E115Pfs*140 0.003 0 0 0 4 0 0 0 0 0 0 0 157412 chr1 6692899 6692899 C T rs527839453 THAP3 Nonsynonymous SNV P160L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.452 157413 chr19 58805974 58805974 A G rs202096304 ZNF8 Nonsynonymous SNV N267S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 157414 chr2 219855659 219855659 A T rs376554385 CRYBA2 Nonsynonymous SNV F121I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.56 157415 chr1 154965223 154965223 G A rs146007674 FLAD1 Nonsynonymous SNV R530H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 157416 chr1 36019969 36019969 C T KIAA0319L Nonsynonymous SNV V42I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 157417 chr20 36640902 36640902 G A rs201677233 TTI1 Synonymous SNV D439D 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 6.476 157418 chr1 39845931 39845931 T C rs770929137 MACF1 Synonymous SNV L2450L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.671 157419 chr11 59383064 59383064 - CGC OSBP G24_A25insG 0 0 0 1 0 0 0.003 0 0 0 0 0 157420 chr20 407967 407967 C G rs370963132 RBCK1 Nonsynonymous SNV P177R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 157421 chr1 41979348 41979348 C A HIVEP3 Synonymous SNV S1848S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.2 157422 chr11 61032597 61032597 G T rs150396966 VWCE Synonymous SNV R685R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.12 157423 chr19 7676901 7676901 C A rs140623215 CAMSAP3 Nonsynonymous SNV P508T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.43 157424 chr2 228110691 228110691 C A rs115324397 COL4A3 Nonsynonymous SNV P116T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 24.7 157425 chr9 99220766 99220766 G A rs200738199 HABP4 Nonsynonymous SNV R152Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 157426 chr2 228563454 228563454 C A rs747823282 SLC19A3 Nonsynonymous SNV G326V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 25.2 157427 chr1 44290534 44290534 C A ST3GAL3 Nonsynonymous SNV A98D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.55 157428 chr11 62369890 62369890 - AGGGC rs573593516 EML3 Frameshift insertion S881Afs*18 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 157429 chr9 100843307 100843307 T C rs1010239881 NANS Synonymous SNV R271R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 157430 chr1 192627338 192627338 A C rs149567175 RGS13 Synonymous SNV P45P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 157431 chr1 158595948 158595948 A G rs747547662 SPTA1 Synonymous SNV L1966L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.38 157432 chr1 45292365 45292365 A G PTCH2 Nonsynonymous SNV V924A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 157433 chr1 46494553 46494553 C T rs56065470 MAST2 Synonymous SNV C722C 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 16.15 157434 chr19 8670128 8670128 C T rs139761152 ADAMTS10 Synonymous SNV T68T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.723 157435 chr9 107298094 107298094 T C rs960586539 OR13C3 Nonsynonymous SNV K334R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 157436 chr1 92946187 92946187 C T rs772484731 GFI1 Nonsynonymous SNV G253S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.37 157437 chr1 200946378 200946378 G A rs140567132 KIF21B Synonymous SNV A1416A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.195 157438 chr20 5095989 5095989 C T rs147737215 PCNA Synonymous SNV A242A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 16.21 157439 chr1 94568686 94568686 C T rs62646862 ABCA4 Nonsynonymous SNV R152Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 157440 chr9 114341122 114341122 G A rs75326768 PTGR1 Nonsynonymous SNV T202I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 157441 chr1 986664 986664 C T rs764764048 AGRN Nonsynonymous SNV P1762L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 157442 chr20 10035120 10035120 C A rs375202162 ANKEF1 Stop gain S682X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 157443 chr11 65308054 65308054 C T rs142872641 LTBP3 Synonymous SNV E1003E 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Likely benign 15.95 157444 chr11 65361314 65361314 G A rs141055303 KCNK7 Synonymous SNV G117G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.22 157445 chr20 1281311 1281311 C T rs144799518 SNPH Synonymous SNV H88H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.96 157446 chr1 55197293 55197293 C A TTC4 Synonymous SNV G272G 0.003 0.008 0 0 4 3 0 0 0 0 0 0 18.2 157447 chr11 65403905 65403905 G T rs776846592 PCNX3 Synonymous SNV P1879P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.644 157448 chr9 116840432 116840432 C T AMBP Nonsynonymous SNV G20S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.077 157449 chr1 205211097 205211097 C T rs138759586 TMCC2 Synonymous SNV T146T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 157450 chr1 205238260 205238260 C T rs762917406 TMCC2 Synonymous SNV R85R 0 0 0.007 0 0 0 0 2 0 0 0 0 9.735 157451 chr1 60505677 60505677 C T rs150454796 C1orf87 Nonsynonymous SNV R220H 0.003 0 0 0 3 0 0 0 0 0 0 0 8.938 157452 chr1 60505771 60505771 G C rs11585228 C1orf87 Nonsynonymous SNV P189A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 157453 chr1 60506673 60506673 T C rs145230176 C1orf87 Nonsynonymous SNV D158G 0.003 0 0 0 3 0 0 0 0 0 0 0 5.561 157454 chr1 207140447 207140447 C T rs199884709 FCAMR Nonsynonymous SNV R40K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.555 157455 chr1 6271178 6271178 C T rs199848736 RNF207 Nonsynonymous SNV T370M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.696 157456 chr1 62943452 62943452 C T rs969249089 DOCK7 Synonymous SNV K1809K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.79 157457 chr11 67270154 67270154 G A rs117420640 PITPNM1 Synonymous SNV S38S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 12.78 157458 chr11 67395456 67395456 A T rs118032721 NUDT8 Stop gain C224X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 157459 chr1 65321324 65321324 G A rs61735631 JAK1 Nonsynonymous SNV R506C 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 25.3 157460 chr1 65141592 65141592 T C CACHD1 Synonymous SNV N671N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.686 157461 chr1 212002632 212002632 T C rs758457059 LPGAT1 Nonsynonymous SNV I3V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 157462 chr1 1007221 1007221 G C rs368948809 RNF223 Synonymous SNV P242P 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.203 157463 chr2 25013371 25013371 T C PTRHD1 Nonsynonymous SNV Q111R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 157464 chr1 10683091 10683091 C A PEX14 Nonsynonymous SNV L134I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 157465 chr1 173878972 173878972 G A rs764695432 SERPINC1 Nonsynonymous SNV R291C 0.004 0 0 0 5 0 0 0 0 0 0 0 23.3 157466 chr11 74057837 74057837 C T rs776322390 PGM2L1 Nonsynonymous SNV R326Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 157467 chr1 75609555 75609555 C T rs147867930 LHX8 Synonymous SNV A202A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 18.9 157468 chr1 22021626 22021626 C G USP48 Nonsynonymous SNV R872T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 157469 chr2 27282266 27282266 G A rs142943047 AGBL5 Nonsynonymous SNV V695I 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Benign 23.5 157470 chr11 75115544 75115544 G A rs145947343 SNORD15B 0 0 0 1 0 0 0.003 0 0 0 0 0 7.871 157471 chr2 27446872 27446872 A G rs138694613 CAD Synonymous SNV T361T 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign/Likely benign 5.45 157472 chr1 17727830 17727830 A C PADI6 Nonsynonymous SNV I661L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.187 157473 chr1 111663268 111663268 A G rs746589250 DRAM2 Synonymous SNV F129F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.04 157474 chr1 225586946 225586946 T C rs767649164 DNAH14 Nonsynonymous SNV L4610S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 157475 chr1 112033373 112033373 G - rs767667812 TMIGD3 P40Lfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 157476 chr1 226589935 226589935 G A PARP1 Nonsynonymous SNV A89V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 157477 chr1 11313988 11313988 C G MTOR Nonsynonymous SNV A250P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 157478 chr1 115168438 115168438 G T rs140038341 DENND2C Synonymous SNV I56I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 157479 chr1 228391813 228391813 T C rs752005001 OBSCN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 157480 chr1 1168334 1168334 C T rs746174922 B3GALT6 Nonsynonymous SNV H226Y 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Uncertain significance 23.5 157481 chr11 93408743 93408743 G A rs62622500 CEP295 Nonsynonymous SNV E179K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 22.7 157482 chr1 92979464 92979464 C T EVI5 Nonsynonymous SNV V728I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.5 157483 chr1 899343 899343 G A rs761976545 KLHL17 Nonsynonymous SNV A467T 0.009 0.008 0 2 11 3 0.005 0 0 0 0 0 24 157484 chr9 136340573 136340573 G A rs150995901 SLC2A6 Synonymous SNV D241D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.983 157485 chr21 40590432 40590432 A G rs199835337 BRWD1 Synonymous SNV L1179L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.899 157486 chr1 12378223 12378223 C T rs145303326 VPS13D Nonsynonymous SNV H2415Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.18 157487 chr1 1277447 1277447 C T rs575043209 DVL1 Nonsynonymous SNV R151Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 157488 chr20 39992455 39992455 C T rs367929699 EMILIN3 Nonsynonymous SNV V113M 0.006 0 0.007 1 7 0 0.003 2 0 0 1 0 26.5 157489 chr1 92642479 92642479 A G KIAA1107 Nonsynonymous SNV K64E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 157490 chr2 48808818 48808818 T C rs368140957 STON1, STON1-GTF2A1L Nonsynonymous SNV I349T 0.003 0 0 0 4 0 0 0 0 0 0 0 24.7 157491 chr11 104915349 104915349 T A rs141911009 CARD16 Nonsynonymous SNV H15L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.606 157492 chr2 54853191 54853191 C T rs141564421 SPTBN1 Synonymous SNV L475L 0.003 0 0 0 4 0 0 0 0 0 0 0 14.99 157493 chr2 55544736 55544736 T C rs41281501 CCDC88A Nonsynonymous SNV K1188R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 21.7 157494 chr11 112070515 112070515 C G rs202014484 BCO2 Nonsynonymous SNV T204R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 157495 chr21 45540530 45540530 C T rs372990119 LOC102724159, PWP2 Synonymous SNV T452T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.57 157496 chr2 61575023 61575031 TGGTGGTGG - rs754455063 USP34 H758_H760del 0.003 0 0 0 4 0 0 0 0 0 0 0 157497 chr1 151400506 151400506 G A rs761129846 POGZ Nonsynonymous SNV P196S 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 9.303 157498 chr1 245850190 245850190 C T rs199742874 KIF26B Nonsynonymous SNV T1302M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 157499 chr1 152275230 152275230 A G rs184470276 FLG Synonymous SNV D4044D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 157500 chr1 203194175 203194175 C A rs201510066 CHIT1 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.1 157501 chr2 73446089 73446089 G A rs138461928 SMYD5 Nonsynonymous SNV R66H 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 157502 chr2 74185270 74185270 T C rs370071744 DGUOK-AS1 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.867 157503 chr22 18020235 18020235 C T rs1015830181 CECR2 Nonsynonymous SNV R381W 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 34 157504 chr22 18209496 18209496 A G rs73378798 BCL2L13 Nonsynonymous SNV Q147R 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 8.26 157505 chr22 18301570 18301570 G A rs73876508 MICAL3 Nonsynonymous SNV P1286L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 23.9 157506 chr22 18609561 18609561 C T rs2234332 TUBA8 Synonymous SNV Y206Y 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 10.38 157507 chr1 206776382 206776382 T C EIF2D Nonsynonymous SNV K236R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.095 157508 chr11 122944416 122944416 G A rs142239120 CLMP Synonymous SNV S296S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 Benign 11.39 157509 chr20 60897158 60897158 C A rs143066016 LAMA5 Nonsynonymous SNV S2138I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.17 157510 chr20 2730597 2730597 C T EBF4 Synonymous SNV C328C 0.002 0 0 0 2 0 0 0 0 0 0 0 4.647 157511 chr1 206822218 206822218 G C rs199879907 DYRK3 Nonsynonymous SNV V559L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.322 157512 chr1 26510932 26510932 G A rs148237566 CNKSR1 Synonymous SNV P354P 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Benign 7.46 157513 chr11 124742906 124742906 A G ROBO3 Nonsynonymous SNV K486R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 157514 chr11 125325904 125325904 G A rs200904803 FEZ1 Nonsynonymous SNV R256C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 157515 chr1 21562343 21562343 G A rs28368018 ECE1 Synonymous SNV D510D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.908 157516 chr3 100604392 100604392 T G ABI3BP Nonsynonymous SNV Q235H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.05 157517 chr20 31767461 31767461 C T rs149285854 BPIFA2 Stop gain Q233X 0.006 0.003 0 0 7 1 0 0 0 0 0 0 35 157518 chr22 24981993 24981993 C T rs200554342 LRRC75B Nonsynonymous SNV R270H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.81 157519 chr20 36977952 36977952 G A rs147682433 LBP Synonymous SNV A42A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.365 157520 chr20 39833324 39833324 G A rs150841576 ZHX3 Nonsynonymous SNV S78F 0.003 0 0 0 4 0 0 0 0 0 0 0 7.787 157521 chr22 29747232 29747232 G A rs371955281 AP1B1 Synonymous SNV Y361Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.983 157522 chr1 34174710 34174710 G C CSMD2 Synonymous SNV L1185L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 157523 chr20 43541440 43541440 C T rs367578777 PABPC1L Synonymous SNV D111D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 157524 chr21 28210535 28210535 C T rs139455257 ADAMTS1 Nonsynonymous SNV R756Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 34 157525 chr1 3670737 3670737 G A rs370107628 CCDC27 Nonsynonymous SNV R125Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 157526 chr1 38260059 38260059 C T MANEAL Nonsynonymous SNV P69S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 157527 chr3 119133624 119133624 C T rs199928704 ARHGAP31 Nonsynonymous SNV R950C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.8 157528 chr1 39815275 39815275 G T MACF1 Nonsynonymous SNV L1585F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 157529 chr20 44983534 44983535 AA - rs781081145 SLC35C2 F102Cfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 157530 chr22 36003445 36003445 C T rs746323657 MB Nonsynonymous SNV G122R 0.003 0.013 0 0 3 5 0 0 0 0 0 0 22.7 157531 chr20 52199080 52199080 C T ZNF217 Nonsynonymous SNV A96T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 157532 chr20 47580374 47580374 T A rs368886420 ARFGEF2 Nonsynonymous SNV D282E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 0.251 157533 chr12 6566769 6566769 C T TAPBPL Synonymous SNV L255L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.174 157534 chr20 44405726 44405726 C T rs754582881 WFDC3 Nonsynonymous SNV D161N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 157535 chr20 47881303 47881303 G A rs371904438 ZNFX1 Nonsynonymous SNV R701W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 34 157536 chr20 48522734 48522734 A C rs200462987 SPATA2 Nonsynonymous SNV F329V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.843 157537 chr12 7175834 7175834 G A rs781959054 C1S Nonsynonymous SNV V257I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 157538 chr21 38524226 38524226 A G rs2835632 TTC3 Synonymous SNV K48K 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 1.522 157539 chr21 38865398 38865398 T C rs746978297 DYRK1A Nonsynonymous SNV M306T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 157540 chr20 52788189 52788189 C T rs35051736 CYP24A1 Nonsynonymous SNV R157Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 157541 chr21 42804057 42804057 A G rs777767414 MX1 Synonymous SNV L20L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.694 157542 chr20 55052115 55052115 C T rs139023802 RTF2 Synonymous SNV H111H 0.008 0.003 0.014 0 9 1 0 4 0 0 0 0 15.08 157543 chr22 38382246 38382246 G A rs754505144 POLR2F Nonsynonymous SNV G127S 0.001 0.013 0 0 1 5 0 0 0 0 0 0 21.7 157544 chr3 12581878 12581878 G A rs184420707 MKRN2OS Synonymous SNV C162C 0.01 0.003 0 0 12 1 0 0 0 0 0 0 7.501 157545 chr20 60893611 60893611 C T rs150998056 LAMA5 Nonsynonymous SNV G2380S 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 Benign 8.749 157546 chr12 10137547 10137547 C T CLEC12A Synonymous SNV C207C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.311 157547 chr1 52260225 52260225 C T rs774927328 NRDC Synonymous SNV E898E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 157548 chr20 61288042 61288042 C T rs200514917 SLCO4A1 Nonsynonymous SNV S79L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 157549 chr1 53532535 53532535 G C rs17107806 PODN Nonsynonymous SNV A10P 0 0 0.024 0 0 0 0 7 0 0 0 0 3.498 157550 chr21 45400874 45400874 C T rs763827550 AGPAT3 Nonsynonymous SNV A283V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 157551 chr10 70742381 70742410 GAGGCTTCAGGGGACAGCGGGAAGGCAGTC - rs551032051 DDX21 E661_R670del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 157552 chr20 61870838 61870838 G A rs149691951 BIRC7 Nonsynonymous SNV V242M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.4 157553 chr1 55624704 55624704 C T rs201678214 USP24 Synonymous SNV L358L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.393 157554 chr20 60898612 60898612 C T rs201676268 LAMA5 Synonymous SNV T1988T 0.001 0 0 0 1 0 0 0 0 0 0 0 15 157555 chr12 13211470 13211470 C T rs141855007 FAM234B Synonymous SNV N173N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.442 157556 chr3 133654630 133654630 G A SLCO2A1 Nonsynonymous SNV A601V 0.007 0 0 0 8 0 0 0 0 0 0 0 14.65 157557 chr12 14589113 14589113 G C rs61758731 ATF7IP Nonsynonymous SNV M572I 0.006 0 0 3 7 0 0.008 0 0 0 0 0 Likely benign 13.17 157558 chr20 62309621 62309621 T C rs143550996 RTEL1 Nonsynonymous SNV M97T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.006 157559 chr22 45802728 45802728 C T rs61755307 SMC1B Nonsynonymous SNV R106H 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.003 157560 chr1 1849727 1849727 A C rs145039340 TMEM52 Nonsynonymous SNV M105R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.65 157561 chr20 62333231 62333231 G A rs139547982 ARFRP1 Nonsynonymous SNV A76V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 157562 chr1 186332565 186332565 C T rs373620741 TPR Nonsynonymous SNV R147H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 157563 chr12 22659738 22659738 - A rs756649658 C2CD5 Frameshift insertion T352Yfs*18 0 0 0 1 0 0 0.003 0 0 0 0 0 157564 chr21 27394297 27394299 CTT - rs755788810 APP E185del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 157565 chr22 19707858 19707858 C G rs550209881 SEPTIN5 Synonymous SNV T135T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.584 157566 chr3 150127485 150127485 G T rs748399998 TSC22D2 Synonymous SNV A116A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.537 157567 chr1 74649300 74649300 T G rs150539790 LRRIQ3 Synonymous SNV I23I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.47 157568 chr1 19566411 19566411 G A rs752777483 EMC1 Synonymous SNV D263D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.979 157569 chr1 247921238 247921238 G A rs41304161 OR1C1 Synonymous SNV L157L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.936 157570 chr12 32996158 32996158 G A rs149930872 PKP2 Nonsynonymous SNV R490W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.936 157571 chr21 37744825 37744825 G A rs201269568 MORC3 Nonsynonymous SNV E817K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 157572 chr1 79115897 79115897 G A rs148272007 IFI44 Nonsynonymous SNV R6H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 157573 chr21 38098524 38098524 G A rs112429649 SIM2 Synonymous SNV S216S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.92 157574 chr1 8075620 8075620 T C rs12087168 ERRFI1 Synonymous SNV L20L 0 0 0.01 0 0 0 0 3 0 0 0 0 8.592 157575 chr21 34841106 34841106 G A rs781439846 TMEM50B Synonymous SNV V29V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.23 157576 chr12 49176864 49176864 G A rs149512917 ADCY6 Synonymous SNV C118C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.527 157577 chr1 899909 899909 A G rs768159011 KLHL17 Nonsynonymous SNV R567G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 157578 chr21 43319185 43319185 G A rs200412687 C2CD2 Nonsynonymous SNV P461L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 157579 chr1 201926430 201926430 C T rs759219649 TIMM17A Synonymous SNV D16D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 157580 chr1 91989791 91989791 C T rs751817440 CDC7 Synonymous SNV Y508Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.298 157581 chr10 102055932 102055932 G T PKD2L1 Nonsynonymous SNV Q388K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 28.8 157582 chr10 102286735 102286735 T C rs755572616 NDUFB8 Synonymous SNV E103E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.887 157583 chr21 40181970 40181970 C T rs371613958 ETS2 Synonymous SNV F4F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 157584 chr1 27709018 27709018 C T rs201003060 CD164L2 Nonsynonymous SNV M76I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 157585 chr1 204403689 204403689 C T rs114076026 PIK3C2B Synonymous SNV T1188T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.27 157586 chr1 28176897 28176897 G A rs145615123 PPP1R8 Synonymous SNV K108K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 8.062 157587 chr1 29313982 29313982 C G rs142705709 EPB41 Synonymous SNV A11A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 157588 chr3 185330446 185330446 G T SENP2 Nonsynonymous SNV R290M 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 157589 chr20 10620508 10620516 GCTTCCGCC - rs771530161 JAG1 R1096_K1098del 0 0 0.003 0 0 0 0 1 0 0 0 0 157590 chr1 209785493 209785493 C T rs144887895 CAMK1G Synonymous SNV N424N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.26 157591 chr21 43897444 43897444 C T rs138330014 RSPH1 Synonymous SNV P190P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 11.93 157592 chr3 187416587 187416587 C T rs779758552 RTP2 Nonsynonymous SNV R126H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.7 157593 chr3 188478055 188478055 C T rs6771786 LPP Synonymous SNV C318C 0.005 0.01 0.003 0 6 4 0 1 0 0 0 0 Benign 16.17 157594 chr1 35580046 35580046 C T rs574578809 ZMYM1 Nonsynonymous SNV T797I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 157595 chr1 215848910 215848910 G A rs111033275 USH2A Nonsynonymous SNV R4115C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 157596 chr1 2160499 2160499 C T rs115746142 SKI Synonymous SNV T98T 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 Benign 7.863 157597 chr22 39966916 39966916 C T CACNA1I Synonymous SNV D53D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.41 157598 chr3 195505704 195505704 A T rs371902592 MUC4 Synonymous SNV A4249A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.002 157599 chr22 19959932 19959932 C T rs748044245 ARVCF Nonsynonymous SNV G882S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.937 157600 chr22 41832560 41832560 C A TOB2 Nonsynonymous SNV G264C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 157601 chr22 21348528 21348528 T C LZTR1 Nonsynonymous SNV Y529H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 157602 chr1 22207205 22207205 C T HSPG2 Nonsynonymous SNV G649S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 157603 chr21 47916995 47916995 G A rs181610004 DIP2A Synonymous SNV S126S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.76 157604 chr1 42047850 42047850 C A rs149380243 HIVEP3 Synonymous SNV P873P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 10.35 157605 chr22 18171779 18171779 A G rs138294984 BCL2L13 Nonsynonymous SNV H110R 0.002 0 0.01 0 2 0 0 3 0 0 0 0 21.9 157606 chr1 43232984 43232984 T C rs200116115 C1orf50 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 157607 chr10 128830453 128830453 C T rs372005171 DOCK1 Nonsynonymous SNV T594M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.7 157608 chr10 128974240 128974240 G T rs77083569 INSYN2A Nonsynonymous SNV N140K 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 26.1 157609 chr22 20103721 20103721 T C RANBP1, TRMT2A Nonsynonymous SNV L5S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 157610 chr22 20781725 20781725 G A rs76472118 SCARF2 Synonymous SNV D556D 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 6.37 157611 chr2 1665868 1665868 G A rs200276592 PXDN Synonymous SNV P552P 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 14.31 157612 chr20 33591304 33591304 G C rs754759873 TRPC4AP Nonsynonymous SNV P722R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 157613 chr12 58109596 58109596 C T rs766330889 OS9 Synonymous SNV D178D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.02 157614 chr20 34572641 34572641 T A CNBD2 Nonsynonymous SNV F219L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.091 157615 chr20 35422897 35422897 G C rs759371797 SOGA1 Synonymous SNV A1196A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 157616 chr22 23523644 23523644 G A rs148370562 BCR Nonsynonymous SNV G166D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.123 157617 chr22 31840638 31840638 C T rs146239944 EIF4ENIF1 Nonsynonymous SNV R502Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 157618 chr20 39609455 39609455 C T rs115078392 LOC100128988 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.965 157619 chr11 406032 406032 G A rs762269849 SIGIRR Nonsynonymous SNV P366L 0 0 0 2 0 0 0.005 0 0 0 0 0 13.8 157620 chr22 33700361 33700361 G A rs113492643 LARGE1 Synonymous SNV N528N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.67 157621 chr12 80615987 80615987 A G OTOGL Nonsynonymous SNV K142E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 157622 chr20 43851794 43851794 A G rs149375638 SEMG2 Synonymous SNV Q507Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 157623 chr1 55547068 55547068 T C rs114901529 USP24 Synonymous SNV R2335R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.874 157624 chr22 36886190 36886190 G A rs146065405 FOXRED2 Synonymous SNV L550L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.772 157625 chr22 37962786 37962786 C G CDC42EP1 Nonsynonymous SNV P144A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 157626 chr1 6171835 6171835 G A rs139581412 CHD5 Nonsynonymous SNV T1750M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 157627 chr1 234452467 234452467 C T rs150836654 SLC35F3 Synonymous SNV L247L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.97 157628 chr3 46414611 46414611 C T rs56198941 CCR5 Nonsynonymous SNV A73V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 31 157629 chr3 46496910 46496910 G A rs145526650 LTF Synonymous SNV A130A 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Benign 12.75 157630 chr1 235590491 235590491 C T TBCE Nonsynonymous SNV S53L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 157631 chr22 32218692 32218692 C T rs181347577 DEPDC5 Nonsynonymous SNV R646C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 157632 chr20 49219011 49219011 C G rs144558424 RIPOR3 Nonsynonymous SNV E419D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.7 157633 chr1 237656289 237656289 C T rs17686573 RYR2 Synonymous SNV H621H 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 Benign/Likely benign 11.8 157634 chr2 179605815 179605815 G A rs201888760 TTN Nonsynonymous SNV P3686S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.662 157635 chr22 43237014 43237014 T C rs146115643 ARFGAP3 Nonsynonymous SNV E66G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 157636 chr22 38485568 38485568 G T rs1033720728 BAIAP2L2 Synonymous SNV P242P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 157637 chr12 112451315 112451315 C G ERP29 Nonsynonymous SNV P16A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.593 157638 chr22 45291958 45291958 G A rs368786424 PHF21B Synonymous SNV I225I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.52 157639 chr1 86334302 86334302 G C rs74097605 COL24A1 Nonsynonymous SNV P367R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 14.23 157640 chr3 58139358 58139358 G A rs372344879 FLNB Synonymous SNV A2184A 0.006 0 0 0 7 0 0 0 0 0 0 0 Likely benign 13.93 157641 chr1 248524924 248524924 G A rs751069130 OR2T4 Synonymous SNV S14S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.349 157642 chr22 46654541 46654541 T C PKDREJ Nonsynonymous SNV D1560G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.023 157643 chr22 46931709 46931709 G A CELSR1 Synonymous SNV N453N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.559 157644 chr1 26508997 26508997 C T rs2802347 CNKSR1 Synonymous SNV H182H 0.008 0 0.003 2 9 0 0.005 1 0 0 0 0 8.049 157645 chr1 26582340 26582340 A G rs138144782 CEP85 Nonsynonymous SNV Q245R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 23.2 157646 chr20 11904017 11904017 C T BTBD3 Synonymous SNV A273A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 157647 chr21 33296950 33296950 T C rs55847614 HUNK Synonymous SNV P144P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.389 157648 chr1 27685032 27685032 C T rs370565326 MAP3K6 Nonsynonymous SNV R877Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 157649 chr12 126138386 126138386 C T rs142810353 TMEM132B Synonymous SNV F301F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.421 157650 chr22 50754509 50754509 - CAAG DENND6B Frameshift insertion I216Tfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 157651 chr22 50754511 50754511 G C DENND6B Synonymous SNV R215R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.331 157652 chr22 50754513 50754513 G C DENND6B Nonsynonymous SNV R215G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 157653 chr2 102998083 102998083 G A rs11465635 IL18R1 Nonsynonymous SNV R55H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.004 157654 chr21 36259271 36259271 C G RUNX1 Nonsynonymous SNV G47R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 157655 chr21 38098446 38098446 G A SIM2 Synonymous SNV K190K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 157656 chr12 132446464 132446466 GAG - rs750171862 EP400 E437del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 157657 chr1 32660753 32660753 C T TXLNA Nonsynonymous SNV S533L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 157658 chr12 133359043 133359043 G A rs866467183 GOLGA3 Nonsynonymous SNV R1102C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 157659 chr2 102642617 102642617 T C rs144482163 IL1R2 Nonsynonymous SNV I311T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.1 157660 chr2 105472776 105472784 CACCACCAC - rs977388304 POU3F3 H275_H277del 0.001 0 0 0 1 0 0 0 0 0 0 0 157661 chr2 219508003 219508003 G A rs776379209 ZNF142 Nonsynonymous SNV P1079L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.805 157662 chr1 3649554 3649554 G A rs566124212 TP73 Nonsynonymous SNV E478K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 157663 chr2 219870242 219870242 A C rs779950354 CFAP65 Synonymous SNV T1655T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.005 157664 chr2 10740989 10740989 T C rs115424813 NOL10 Nonsynonymous SNV K445R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.59 157665 chr21 44480632 44480632 G A rs772384826 CBS, CBSL Nonsynonymous SNV A250V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.4 157666 chr13 30091338 30091338 G A rs139952828 SLC7A1 Synonymous SNV A540A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.522 157667 chr21 45513966 45513966 T C rs777601839 TRAPPC10 Nonsynonymous SNV V540A 0 0 0.007 0 0 0 0 2 0 0 0 0 20.1 157668 chr13 30096461 30096461 G A rs34747283 SLC7A1 Synonymous SNV A394A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 14.6 157669 chr13 30097543 30097543 C T rs34374153 SLC7A1 Synonymous SNV G303G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.43 157670 chr2 120438515 120438515 G T rs11684353 TMEM177 Nonsynonymous SNV G29V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 157671 chr2 224463369 224463369 G T rs201824633 SCG2 Nonsynonymous SNV P211Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 157672 chr2 225661700 225661700 A G DOCK10 Nonsynonymous SNV I1597T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 157673 chr13 39544507 39544507 C T rs34402894 STOML3 Nonsynonymous SNV V111I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 157674 chr20 31973535 31973535 A C CDK5RAP1 Nonsynonymous SNV I266S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 157675 chr1 43770737 43770737 G C rs756575049 TIE1 Nonsynonymous SNV G47R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 157676 chr2 131113738 131113738 G A rs753369736 PTPN18 Nonsynonymous SNV G20S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.562 157677 chr13 42460938 42460938 C T rs375902474 VWA8 Nonsynonymous SNV G282E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 157678 chr2 131673954 131673954 G A rs543678247 ARHGEF4 Nonsynonymous SNV G812E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.316 157679 chr2 133541236 133541236 G C rs761369446 NCKAP5 Nonsynonymous SNV P1050A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 157680 chr22 18022541 18022541 C T CECR2 Synonymous SNV H740H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.957 157681 chr22 18566240 18566240 G C rs142648687 PEX26 Nonsynonymous SNV V137L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.82 157682 chr22 19951125 19951125 C G COMT Nonsynonymous SNV P59R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 157683 chr20 37266427 37266427 G A rs41282834 ARHGAP40 Synonymous SNV P341P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.996 157684 chr2 198285129 198285129 A - SF3B1 Stop gain Y146* 0.003 0 0 0 3 0 0 0 0 0 0 0 157685 chr2 198285131 198285131 A T SF3B1 Nonsynonymous SNV Y146N 0.003 0 0 0 3 0 0 0 0 0 0 0 11.69 157686 chr2 198285132 198285132 G C SF3B1 Nonsynonymous SNV F145L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.691 157687 chr22 21356340 21356340 A G rs577629122 THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.471 157688 chr22 21363078 21363078 A G rs73164845 THAP7-AS1, TUBA3FP 0 0 0.017 0 0 0 0 5 0 0 0 0 0.045 157689 chr2 20201812 20201812 C T rs368983587 MATN3 Nonsynonymous SNV G316R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 157690 chr1 50884871 50884871 C T DMRTA2 Synonymous SNV A365A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 157691 chr2 202358378 202358378 G C C2CD6 Nonsynonymous SNV P896A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.005 157692 chr22 24056388 24056390 ACT - rs548230237 GUSBP11 0 0 0.01 0 0 0 0 3 0 0 0 0 157693 chr1 54417927 54417927 C T rs373260392 LRRC42 Synonymous SNV S85S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.8 157694 chr11 8751709 8751709 C T rs149381128 DENND2B Synonymous SNV S376S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 11.32 157695 chr22 24810682 24810682 C T SPECC1L-ADORA2A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 157696 chr1 54704824 54704824 G A rs772004232 SSBP3 Nonsynonymous SNV P275L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26 157697 chr2 168725753 168725753 C T rs376666492 B3GALT1 Synonymous SNV N68N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 157698 chr2 167138296 167138296 T C rs121908919 SCN9A Nonsynonymous SNV K666R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.182 157699 chr4 177094518 177094521 TGAG - rs749151981 WDR17 E1116del 0.006 0.008 0 0 7 3 0 0 0 0 0 0 157700 chr22 26951215 26951215 T C rs12161068 MIR548J 0 0 0.003 0 0 0 0 1 0 0 0 0 9.452 157701 chr20 49508463 49508463 T C rs752139612 ADNP Nonsynonymous SNV K930E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 157702 chr11 14902255 14902255 T C rs202199452 CYP2R1 Nonsynonymous SNV S143G 0.003 0 0 4 3 0 0.01 0 0 0 0 0 24.3 157703 chr22 30951193 30951193 C A rs150519649 GAL3ST1 Nonsynonymous SNV R340L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 157704 chr20 56185205 56185205 C G rs41275644 ZBP1 Nonsynonymous SNV G290R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 157705 chr22 32112602 32112602 T C rs139338965 PRR14L Nonsynonymous SNV E408G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 157706 chr13 114748792 114748792 C T rs149782849 RASA3 Nonsynonymous SNV R792Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.6 157707 chr2 179597308 179597308 C T rs727504697 TTN Nonsynonymous SNV G4250R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.6 157708 chr2 220022265 220022265 G A rs777344947 NHEJ1 Nonsynonymous SNV R107W 0.003 0 0 0 4 0 0 0 0 0 0 0 23.8 157709 chr22 37395975 37395975 T C rs143038675 TEX33 Synonymous SNV S180S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 2.102 157710 chr22 37397942 37397942 A C rs143671500 TEX33 Nonsynonymous SNV I142S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 23.1 157711 chr22 37398011 37398011 G A rs201077237 TEX33 Nonsynonymous SNV T119M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 157712 chr22 37398062 37398062 G A rs138189871 TEX33 Nonsynonymous SNV S102L 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 3.035 157713 chr4 2661350 2661350 G A rs61731406 FAM193A Synonymous SNV S194S 0.005 0 0 2 6 0 0.005 0 0 0 0 0 6.176 157714 chr22 37492702 37492702 G A rs147700428 TMPRSS6 Synonymous SNV S130S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 12.04 157715 chr22 37900286 37900286 T C rs61752257 CARD10 Nonsynonymous SNV K514R 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 23.8 157716 chr20 61386100 61386100 G A rs201598535 NTSR1 Nonsynonymous SNV A260T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 157717 chr4 37445086 37445086 C T rs11944914 NWD2 Synonymous SNV L492L 0.006 0 0.003 0 7 0 0 1 0 0 0 0 13 157718 chr2 179497759 179497759 T C TTN Nonsynonymous SNV I5302V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.76 157719 chr22 39832586 39832586 G A rs13058220 LOC100506472 0 0 0.003 0 0 0 0 1 0 0 0 0 0.336 157720 chr2 179605184 179605184 C T TTN Nonsynonymous SNV S3896N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.593 157721 chr2 32703884 32703884 C T BIRC6 Nonsynonymous SNV A2417V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 157722 chr22 42085003 42085003 C G rs530862820 C22orf46 0 0 0.003 0 0 0 0 1 0 0 0 0 7.404 157723 chr2 37229529 37229529 C T rs761680278 HEATR5B Nonsynonymous SNV R1746Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.75 157724 chr20 62331820 62331820 G A rs760205392 ARFRP1 Nonsynonymous SNV P147L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 157725 chr22 42415333 42415333 G A rs759905972 WBP2NL Synonymous SNV P27P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.613 157726 chr14 23826719 23826719 G A rs138311946 EFS Nonsynonymous SNV R375C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 157727 chr14 24026476 24026476 T C rs61735919 THTPA Synonymous SNV T170T 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 6.181 157728 chr20 8113326 8113326 G T rs150241349 PLCB1 Nonsynonymous SNV A10S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.1 157729 chr22 43623384 43623384 G - SCUBE1 C401Wfs*50 0 0 0.003 0 0 0 0 1 0 0 0 0 157730 chr14 24662296 24662296 T C rs62621251 TM9SF1 Nonsynonymous SNV I175M 0.005 0.01 0.007 1 6 4 0.003 2 0 0 0 0 24.2 157731 chr4 48490938 48490938 C T rs369395977 SLC10A4 Synonymous SNV T432T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.069 157732 chr14 24805543 24805543 G A rs763932125 RIPK3 Synonymous SNV Y465Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.014 157733 chr2 45645580 45645580 C A rs200459688 SRBD1 Nonsynonymous SNV G753W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 157734 chr1 91182214 91182214 T C rs146412001 BARHL2 Nonsynonymous SNV E180G 0.003 0 0 0 4 0 0 0 0 0 0 0 22.1 157735 chr2 47702167 47702167 A G MSH2 Nonsynonymous SNV Y588C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 27.1 157736 chr2 192280851 192280851 C G MYO1B Nonsynonymous SNV A999G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 157737 chr21 30433667 30433667 C T CCT8 Synonymous SNV L379L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 157738 chr14 31355311 31355311 T G rs61759484 COCH Nonsynonymous SNV Y424D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 25.3 157739 chr14 31618304 31618304 A G rs768408652 HECTD1 Nonsynonymous SNV S740P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.17 157740 chr22 46763654 46763654 T C rs151196514 CELSR1 Nonsynonymous SNV Y2684C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 157741 chr4 6037784 6037784 C T rs146662557 JAKMIP1 Synonymous SNV P742P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 1.209 157742 chr2 204000447 204000447 A G rs150176704 NBEAL1 Synonymous SNV S1258S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.732 157743 chr2 204073926 204073926 A G NBEAL1 Nonsynonymous SNV M2527V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.698 157744 chr14 45512923 45512923 T A rs142427599 TOGARAM1 Nonsynonymous SNV C1283S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.45 157745 chr2 208632987 208632987 G C rs746133733 FZD5 Synonymous SNV P159P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.092 157746 chr1 99380380 99380380 G A rs756448637 PLPPR5 Stop gain R299X 0.003 0 0 0 3 0 0 0 0 0 0 0 46 157747 chr20 10620474 10620474 T C rs150811951 JAG1 Nonsynonymous SNV N1110S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.019 157748 chr20 1290968 1290968 C A rs113382304 FKBP1A-SDCBP2 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 6.097 157749 chr2 70742028 70742028 C T rs371384477 TGFA Synonymous SNV A19A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.65 157750 chr2 10188503 10188503 G T rs121912645 KLF11 Nonsynonymous SNV A330S 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 2.031 157751 chr2 216300403 216300403 G A FN1 Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.97 157752 chr2 74690372 74690372 G A rs745844848 MOGS Nonsynonymous SNV R241C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.9 157753 chr14 56134011 56134011 A G rs756061959 KTN1 Nonsynonymous SNV K1048R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.74 157754 chr2 74752292 74752292 C G DQX1 Nonsynonymous SNV G92A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.75 157755 chr2 219885997 219885997 G T rs138578460 CFAP65 Nonsynonymous SNV Q1046K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 157756 chr2 113082151 113082151 A G rs75832760 ZC3H6 Nonsynonymous SNV Y588C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.48 157757 chr4 84185425 84185425 A T rs915019672 COQ2 Nonsynonymous SNV V348D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.5 157758 chr2 218999611 218999611 G T rs148935180 CXCR2 Synonymous SNV L29L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 0.442 157759 chr2 27258050 27258050 G T rs371614007 TMEM214 Synonymous SNV V133V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.06 157760 chr20 23065641 23065641 C T CD93 Nonsynonymous SNV A397T 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 5.152 157761 chr14 62462932 62462932 G A rs17099369 SYT16 Synonymous SNV T65T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.856 157762 chr2 114020911 114020911 C T rs7585510 PAX8-AS1 0 0 0.051 0 0 0 0 15 0 0 1 0 7.1 157763 chr2 220299852 220299852 C T rs368226647 SPEG Synonymous SNV N51N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 15.47 157764 chr2 116101445 116101445 G A rs150266234 DPP10 Synonymous SNV R69R 0.002 0 0.003 5 2 0 0.013 1 0 0 0 0 12.49 157765 chr2 27887201 27887201 G C rs780503238 SLC4A1AP Synonymous SNV L194L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.269 157766 chr2 28627174 28627174 C T rs148153738 FOSL2 Synonymous SNV G101G 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 14.64 157767 chr4 887234 887234 G A GAK Synonymous SNV A228A 0.003 0 0 0 4 0 0 0 0 0 0 0 9.01 157768 chr2 120776742 120776742 C T rs141466977 EPB41L5 Nonsynonymous SNV R28C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 157769 chr4 90857351 90857351 T C rs376778074 MMRN1 Synonymous SNV N840N 0.007 0 0 0 8 0 0 0 0 0 0 0 0.005 157770 chr21 47558554 47558554 C T FTCD Synonymous SNV T437T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.25 157771 chr3 100529291 100529291 G T rs780327323 ABI3BP Nonsynonymous SNV T1057N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.29 157772 chr2 220422948 220422949 CA - rs757802630 OBSL1 Stop gain C1153* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 157773 chr14 68353784 68353784 G T rs28908168 RAD51B Nonsynonymous SNV V207L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 15.32 157774 chr2 220439720 220439720 C A rs772191459 INHA Nonsynonymous SNV H191Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 157775 chr20 31647747 31647747 G C rs781712029 BPIFB3 Nonsynonymous SNV R146P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 157776 chr2 225634964 225634964 G A rs145037309 DOCK10 Synonymous SNV D2130D 0.005 0 0 2 6 0 0.005 0 0 0 0 0 10.94 157777 chr3 107938358 107938358 C A rs143996667 IFT57 Nonsynonymous SNV A92S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 23.1 157778 chr2 138320832 138320832 T C rs141034102 THSD7B Synonymous SNV Y1060Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 157779 chr22 20101056 20101056 C A TRMT2A Nonsynonymous SNV G462V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.077 157780 chr2 44428896 44428896 C T rs773851954 PPM1B Synonymous SNV S186S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.89 157781 chr20 36855580 36855580 C G rs200120766 KIAA1755 Nonsynonymous SNV Q676H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.03 157782 chr3 113955891 113955891 C T rs781243992 ZNF80 Nonsynonymous SNV G11S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.03 157783 chr20 37257629 37257629 C T ARHGAP40 Synonymous SNV A205A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.1 157784 chr2 233345474 233345474 C A rs117012322 ECEL1 Nonsynonymous SNV R700L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 157785 chr14 77942010 77942010 G A rs764861643 ISM2 Synonymous SNV N548N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.884 157786 chr22 23524164 23524164 C T rs764826594 BCR Synonymous SNV T339T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.443 157787 chr22 24086755 24086755 G A rs757094433 ZNF70 Synonymous SNV T191T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 157788 chr3 119347560 119347560 A G rs41271395 PLA1A Synonymous SNV Q205Q 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign 0.04 157789 chr14 86089196 86089196 C A rs142242956 FLRT2 Synonymous SNV T446T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.54 157790 chr20 40747075 40747075 C T rs199637632 PTPRT Nonsynonymous SNV V984I 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 157791 chr20 43348682 43348682 G A rs369068012 CCN5 Nonsynonymous SNV V69I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.126 157792 chr14 92053544 92053544 A G CATSPERB 0 0 0 1 0 0 0.003 0 0 0 0 0 24 157793 chr14 92191498 92191498 G A rs181069450 CATSPERB Nonsynonymous SNV R32C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 157794 chr2 236706515 236706515 C T rs137978600 AGAP1 Synonymous SNV A262A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.25 157795 chr3 122552200 122552200 T G SLC49A4 Nonsynonymous SNV L247R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 157796 chr22 28379374 28379374 C G rs377260379 TTC28 Nonsynonymous SNV R2094T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.003 157797 chr2 169547559 169547559 A C CERS6 Nonsynonymous SNV N161H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 157798 chr22 29876392 29876392 C T rs780966618 NEFH Synonymous SNV F47F 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 9.788 157799 chr2 170113670 170113670 G C rs150752263 LRP2 Nonsynonymous SNV T868S 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.02 157800 chr14 94503808 94503808 G A rs144803702 OTUB2 Nonsynonymous SNV R29Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.94 157801 chr5 135692629 135692629 G C rs200679708 TRPC7 Nonsynonymous SNV D149E 0.008 0 0 1 9 0 0.003 0 0 0 0 0 22.9 157802 chr2 171713587 171713587 T C rs146199288 GAD1 Synonymous SNV Y491Y 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.13 157803 chr20 47887168 47887168 C T rs142531207 ZNFX1 Nonsynonymous SNV S394N 0.007 0.003 0.007 3 8 1 0.008 2 0 0 0 0 Likely benign 8.316 157804 chr2 175618366 175618366 C T rs148304857 CHRNA1 Nonsynonymous SNV D215N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.72 157805 chr14 96730262 96730262 C G rs140482892 BDKRB1 Synonymous SNV A81A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.512 157806 chr20 49510612 49510612 C T rs146897449 ADNP Synonymous SNV S213S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.547 157807 chr2 242407641 242407641 G A FARP2 Synonymous SNV V660V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.84 157808 chr2 241991461 241991461 A G SNED1 Nonsynonymous SNV K619R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 157809 chr20 54958091 54958091 G A rs148425454 AURKA Synonymous SNV A172A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 157810 chr20 56137196 56137196 G A rs761353808 PCK1 Synonymous SNV E98E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.924 157811 chr5 140235714 140235714 C A rs149039484 PCDHA10 Nonsynonymous SNV S27R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 16.31 157812 chr22 37398053 37398053 T - rs763082370 TEX33 N105Tfs*117 0.003 0 0 1 3 0 0.003 0 0 0 0 0 157813 chr22 37407115 37407115 C G TST Nonsynonymous SNV A283P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 157814 chr14 103999069 103999069 C A rs775159038 TRMT61A Nonsynonymous SNV T161N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.937 157815 chr14 104027410 104027410 C G rs143718197 BAG5 Nonsynonymous SNV S31T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 157816 chr14 104195482 104195482 C T rs139998123 ZFYVE21 Synonymous SNV S163S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.949 157817 chr2 187531447 187531447 G A rs554793668 ITGAV Nonsynonymous SNV R692H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 157818 chr20 60912701 60912701 C T rs143941434 LAMA5 Synonymous SNV T703T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.05 157819 chr2 196682474 196682474 G A rs551842767 DNAH7 Nonsynonymous SNV P3124L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 157820 chr3 14170981 14170981 C T rs35028636 TMEM43 Nonsynonymous SNV R28W 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Benign/Likely benign 35 157821 chr22 42998007 42998007 A G rs151088327 POLDIP3 Nonsynonymous SNV I186T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.79 157822 chr5 147513365 147513365 G A rs775295911 SPINK5 Nonsynonymous SNV R1034H 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 17.12 157823 chr2 201728823 201728823 C T rs75648691 CLK1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.5 157824 chr15 33445450 33445450 A C rs61746221 FMN1 Nonsynonymous SNV C556G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 0.003 157825 chr15 33962630 33962630 G T rs755897292 RYR3 Nonsynonymous SNV L1911F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 157826 chr15 34065793 34065793 G A rs753992365 RYR3 Synonymous SNV T3038T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.72 157827 chr15 34111969 34111969 C T rs58745096 RYR3 Synonymous SNV D3568D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 17.03 157828 chr2 37297483 37297483 G C rs770568538 HEATR5B Nonsynonymous SNV L273V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.5 157829 chr3 11078635 11078635 A G SLC6A1 Nonsynonymous SNV K417E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 157830 chr2 44547361 44547361 G T rs371537299 SLC3A1 Synonymous SNV S547S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.99 157831 chr2 54024684 54024684 T C ERLEC1 Synonymous SNV H127H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.909 157832 chr22 50585577 50585577 A G MOV10L1 Nonsynonymous SNV R3G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.098 157833 chr15 42059352 42059352 T C rs61757238 MGA Synonymous SNV V2815V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.097 157834 chr15 42104219 42104219 A G MAPKBP1 Nonsynonymous SNV Q131R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.56 157835 chr15 42116733 42116733 G A rs143368521 MAPKBP1 Nonsynonymous SNV G1145D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.008 157836 chr5 156346486 156346486 G A rs567822622 TIMD4 Synonymous SNV D345D 0.003 0 0 0 3 0 0 0 0 0 0 0 4.771 157837 chr15 42632023 42632023 G A rs369979153 GANC Nonsynonymous SNV R667Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 157838 chr2 63824616 63824616 G C rs751353883 MDH1 Nonsynonymous SNV G6R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 157839 chr3 121340432 121340432 A G rs762409568 FBXO40 Synonymous SNV A52A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.119 157840 chr15 44055344 44055344 A G rs139812953 PDIA3 Nonsynonymous SNV N181S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.39 157841 chr5 176005389 176005389 C T rs758040668 CDHR2 Nonsynonymous SNV P533L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.13 157842 chr21 37602856 37602856 G A DOP1B Nonsynonymous SNV G592R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 157843 chr5 176083853 176083853 G A rs200164200 TSPAN17 Synonymous SNV P261P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.183 157844 chr2 220405761 220405761 G A rs113173886 CHPF Synonymous SNV H163H 0 0 0.007 0 0 0 0 2 0 0 0 0 8.705 157845 chr5 176314561 176314561 C A rs148004045 HK3 Synonymous SNV L497L 0.004 0 0 0 5 0 0 0 0 0 0 0 7.003 157846 chr21 38858894 38858894 C T DYRK1A Synonymous SNV D176D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 157847 chr21 40720262 40720262 G A rs139888239 HMGN1 Nonsynonymous SNV P28S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 157848 chr2 74327617 74327617 C T rs374314745 TET3 Synonymous SNV N1141N 0.003 0 0 0 4 0 0 0 0 0 0 0 1.796 157849 chr2 74687882 74687882 G A rs1034366551 INO80B-WBP1 0.002 0 0 0 2 0 0 0 0 0 0 0 4.818 157850 chr15 50535036 50535036 A C rs760006509 HDC Synonymous SNV A437A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.883 157851 chr2 10584626 10584626 C T rs138359527 ODC1 Nonsynonymous SNV G84R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 29.6 157852 chr5 176931340 176931340 C T rs546444181 DOK3 Nonsynonymous SNV G323R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.732 157853 chr2 73519177 73519177 G A rs200333207 EGR4 Nonsynonymous SNV P290L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.9 157854 chr15 52622673 52622673 G A rs147898420 MYO5A Nonsynonymous SNV P1426S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 157855 chr15 52662503 52662503 C T rs373690028 MYO5A Nonsynonymous SNV E977K 0 0 0 1 0 0 0.003 0 0 0 0 0 24 157856 chr3 187419764 187419764 G A rs150707467 RTP2 Synonymous SNV H51H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.536 157857 chr11 108160516 108160516 A G rs34640941 ATM Nonsynonymous SNV Y1475C 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.12 157858 chr2 73680111 73680111 C T ALMS1 Stop gain Q2152X 0.003 0 0 0 4 0 0 0 0 0 0 0 35 157859 chr2 112838915 112838915 T G TMEM87B Nonsynonymous SNV Y220D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.4 157860 chr2 113300001 113300001 - TCCGGCGTGTACCGAGAGACTGGCG rs746900769 POLR1B Frameshift insertion C34Rfs*28 0.001 0 0.003 0 1 0 0 1 0 0 0 0 157861 chr3 124930167 124930167 C G rs200348950 SLC12A8 Nonsynonymous SNV E9D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.33 157862 chr2 230875544 230875544 C G FBXO36 Nonsynonymous SNV R171G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 157863 chr2 88387508 88387508 C A rs113636517 SMYD1 Synonymous SNV R148R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 19.87 157864 chr2 233351313 233351313 G T rs191331240 ECEL1 Synonymous SNV V17V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.632 157865 chr2 85533670 85533670 C T rs41288839 TCF7L1 Synonymous SNV A415A 0.005 0 0.014 0 6 0 0 4 0 0 0 0 19.87 157866 chr15 62214879 62214879 G T rs371685718 VPS13C Nonsynonymous SNV T2188K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.921 157867 chr21 45846976 45846976 T C TRPM2 Nonsynonymous SNV V1319A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 157868 chr15 63089518 63089518 T G TLN2 Nonsynonymous SNV S2051A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 157869 chr2 97368434 97368434 A G rs902407931 FER1L5 Nonsynonymous SNV M1785V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 157870 chr11 118499300 118499300 C T rs150200350 PHLDB1 Synonymous SNV D587D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.21 157871 chr15 65347525 65347525 G A rs368565363 RASL12 Synonymous SNV H152H 0 0 0 2 0 0 0.005 0 0 0 0 0 11.13 157872 chr3 197547257 197547257 G A rs372497780 LRCH3 Nonsynonymous SNV R199K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 157873 chr5 34042976 34042976 C T rs144445678 C1QTNF3 Synonymous SNV P85P 0.009 0 0 1 10 0 0.003 0 0 0 0 0 14.51 157874 chr2 234873335 234873335 A C TRPM8 Nonsynonymous SNV K605Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 157875 chr21 46931066 46931066 C T rs368913533 COL18A1 Synonymous SNV G1422G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 9.685 157876 chr5 34937649 34937649 G A rs77480286 DNAJC21 Synonymous SNV A219A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 5.425 157877 chr2 235949575 235949575 C T rs148473816 SH3BP4 Synonymous SNV F54F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.4 157878 chr3 130279271 130279271 C T rs76315272 COL6A6 Synonymous SNV S21S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 9.978 157879 chr5 353861 353861 G T rs769607059 AHRR Nonsynonymous SNV A31S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.252 157880 chr3 100527031 100527031 C T rs202241381 ABI3BP Nonsynonymous SNV R549H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.463 157881 chr2 97527618 97527618 G A SEMA4C Nonsynonymous SNV A486V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 157882 chr15 69339163 69339163 G T rs1045447166 NOX5 Nonsynonymous SNV G522V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.497 157883 chr22 17630517 17630517 C T rs760154183 HDHD5 Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 157884 chr3 37670679 37670679 G A rs61751189 ITGA9 Nonsynonymous SNV R564Q 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 34 157885 chr5 43137201 43137201 A G ZNF131 Synonymous SNV K11K 0.003 0 0 0 4 0 0 0 0 0 0 0 1.486 157886 chr5 483492 483492 G A rs375784007 SLC9A3 Synonymous SNV A346A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 8.174 157887 chr3 1414027 1414027 G A CNTN6 Nonsynonymous SNV V409I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.6 157888 chr3 39230585 39230585 C T rs115823205 XIRP1 Nonsynonymous SNV V118M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 22.2 157889 chr2 242793433 242793433 G A rs2227982 PDCD1 Nonsynonymous SNV A215V 0.009 0.008 0.01 3 10 3 0.008 3 0 0 0 0 14.62 157890 chr5 55422922 55422922 C T ANKRD55 Synonymous SNV R208R 0.003 0 0 0 4 0 0 0 0 0 0 0 8.912 157891 chr2 242814639 242814639 T C rs75447317 RTP5 Nonsynonymous SNV L311P 0.01 0.008 0.01 3 12 3 0.008 3 0 0 0 0 7.093 157892 chr3 42727585 42727585 C G rs753666861 KLHL40 Nonsynonymous SNV H159D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 157893 chr15 78882937 78882941 TACAT - rs745841148 CHRNA5 I403Kfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 157894 chr5 64880892 64880892 T C rs149940260 PPWD1 Synonymous SNV Y372Y 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 2.789 157895 chr2 160086172 160086172 G A rs201882245 TANC1 Nonsynonymous SNV R1211H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 157896 chr2 162279924 162279924 A G rs774147328 TBR1 Nonsynonymous SNV N412S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 157897 chr2 27305471 27305471 G A rs758742017 EMILIN1 Synonymous SNV A344A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.751 157898 chr11 134029793 134029793 C A NCAPD3 Synonymous SNV V1149V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.13 157899 chr11 134062674 134062674 C T rs199820759 NCAPD3 Nonsynonymous SNV R514Q 0 0 0 2 0 0 0.005 0 0 0 0 0 10.39 157900 chr3 44926890 44926890 G A rs747399684 TGM4 Synonymous SNV T31T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.596 157901 chr3 122259327 122259327 C T rs751697051 PARP9 Nonsynonymous SNV R621H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.2 157902 chr3 168834214 168834214 T C MECOM Synonymous SNV P294P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 157903 chr3 46904845 46904845 A G rs138567316 MYL3 Synonymous SNV D12D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 3.299 157904 chr2 3718749 3718749 T C rs377010333 ALLC Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 157905 chr2 170428436 170428436 C T rs149123082 FASTKD1 Nonsynonymous SNV S35N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.98 157906 chr3 173999023 173999023 C G NLGN1 Nonsynonymous SNV T801S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 157907 chr3 47374688 47374688 G A rs140729925 KLHL18 Synonymous SNV E214E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.09 157908 chr2 38536627 38536627 C T rs61754249 ATL2 Nonsynonymous SNV R151Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 157909 chr2 172725280 172725280 A C rs753384825 SLC25A12 Synonymous SNV V40V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.973 157910 chr3 47963320 47963320 G A rs138444567 MAP4 Nonsynonymous SNV P155L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.01 157911 chr3 125250750 125250750 A C rs141610365 OSBPL11 Synonymous SNV R711R 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 4.397 157912 chr2 42995042 42995042 G A rs143302388 HAAO Synonymous SNV S219S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 157913 chr3 127646773 127646773 C T rs189713971 KBTBD12 Nonsynonymous SNV R413W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 157914 chr2 43903432 43903432 A C rs201476048 C1GALT1C1L Nonsynonymous SNV F10L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 157915 chr22 37893054 37893054 G A rs911564189 CARD10 Nonsynonymous SNV P640L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 157916 chr2 48028282 48028282 A G rs267608075 MSH6 Nonsynonymous SNV I924V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.503 157917 chr2 54197783 54197783 C G rs749495462 PSME4 Nonsynonymous SNV E47Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 157918 chr2 55254128 55254128 A G RTN4 Synonymous SNV F163F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 157919 chr3 129120635 129120635 G A rs550703177 EFCAB12 Nonsynonymous SNV P507L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 157920 chr22 39910006 39910006 C T rs779965865 MIEF1 Nonsynonymous SNV S357L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 157921 chr3 131221605 131221605 C G rs775175471 MRPL3 Nonsynonymous SNV G21R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 19.6 157922 chr16 304386 304386 G A rs199939049 FAM234A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.32 157923 chr2 185801348 185801348 A G rs62198466 ZNF804A Nonsynonymous SNV I409V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 157924 chr3 140281707 140281707 A G rs766788653 CLSTN2 Nonsynonymous SNV N756S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.834 157925 chr2 74040619 74040619 C T rs547657475 C2orf78 Nonsynonymous SNV T38M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 157926 chr6 107391189 107391189 G A rs148664657 BEND3 Synonymous SNV D402D 0.006 0 0 0 7 0 0 0 0 0 0 0 0.21 157927 chr2 74174013 74174013 G A rs1804599 DGUOK Synonymous SNV E44E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.89 157928 chr2 74596321 74596321 T C rs13429423 DCTN1 Synonymous SNV T401T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.76 157929 chr2 74597937 74597937 G T rs13420401 DCTN1 Nonsynonymous SNV L153M 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.5 157930 chr6 108230168 108230168 T C rs145730475 SEC63 Synonymous SNV T232T 0.005 0 0 0 6 0 0 0 0 0 0 0 9.028 157931 chr2 74688884 74688884 G A rs13405869 MOGS Nonsynonymous SNV R678W 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23 157932 chr3 66428188 66428188 G A rs756778255 SLC25A26 Nonsynonymous SNV R173Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.11 157933 chr2 190682824 190682824 A G rs200244068 PMS1 Nonsynonymous SNV D106G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 157934 chr3 151046501 151046501 C A P2RY13 Nonsynonymous SNV V115L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.9 157935 chr16 1816624 1816624 A C rs367888131 MAPK8IP3 Nonsynonymous SNV M965L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 157936 chr3 145841965 145841965 C T rs148641011 PLOD2 Nonsynonymous SNV R54Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 157937 chr2 86305379 86305379 C T rs781449199 POLR1A Nonsynonymous SNV R372Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.9 157938 chr16 2136784 2136784 G A rs201694466 TSC2 Nonsynonymous SNV R1390H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 157939 chr2 200320611 200320611 G C rs778660613 SATB2 Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 157940 chr3 27233716 27233716 G A rs34344159 NEK10 Nonsynonymous SNV A82V 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 23.5 157941 chr12 21450416 21450416 C T rs201943341 SLCO1A2 Nonsynonymous SNV V333I 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 13.3 157942 chr12 21665257 21665257 A G GOLT1B Nonsynonymous SNV I109V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 157943 chr3 164767632 164767632 C A rs144972103 SI Nonsynonymous SNV G515V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 157944 chr3 153840550 153840550 T G ARHGEF26 Nonsynonymous SNV S257A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 157945 chr3 9876449 9876449 G A rs145004506 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV R737Q 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 13.26 157946 chr3 169497147 169497147 G A rs561553041 MYNN Synonymous SNV A286A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.995 157947 chr3 107508663 107508663 T C BBX Nonsynonymous SNV F745L 0 0 0.007 0 0 0 0 2 0 0 0 0 28.8 157948 chr3 169530292 169530292 C T LRRC34 Synonymous SNV G15G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 157949 chr3 108366818 108366818 G A rs749144380 DZIP3 Synonymous SNV E607E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 157950 chr3 179137204 179137204 A G rs149798652 GNB4 Synonymous SNV H62H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.024 157951 chr3 10861429 10861429 C T rs144440521 SLC6A11 Nonsynonymous SNV H142Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.91 157952 chr3 179298782 179298782 C T ACTL6A Nonsynonymous SNV P311S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 157953 chr16 4630091 4630091 G A C16orf96 Nonsynonymous SNV V773M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 157954 chr6 13622695 13622695 G A RANBP9 Nonsynonymous SNV L697F 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 157955 chr3 183602622 183602622 C A PARL Nonsynonymous SNV G5C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 157956 chr6 138768167 138768167 T G rs536555541 NHSL1 Nonsynonymous SNV Q168P 0.007 0 0 0 8 0 0 0 0 0 0 0 24.1 157957 chr16 4986987 4986987 C T rs766206292 PPL Synonymous SNV R20R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.08 157958 chr16 10524502 10524502 C T rs140651559 ATF7IP2 Nonsynonymous SNV R9W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 157959 chr2 211481155 211481155 T C CPS1 Synonymous SNV D859D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.767 157960 chr3 113383221 113383221 A G rs12491540 USF3 Synonymous SNV Y65Y 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 0.724 157961 chr2 212589876 212589876 G A rs530060592 ERBB4 Synonymous SNV Y222Y 0.003 0 0 0 3 0 0 0 0 0 0 0 3.19 157962 chr3 184071185 184071185 G A rs780081890 CLCN2 Synonymous SNV I583I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 157963 chr3 184290726 184290726 C T rs112247281 EPHB3 Synonymous SNV R206R 0.005 0.005 0.01 6 6 2 0.015 3 0 0 0 0 13.71 157964 chr2 218713653 218713653 G A rs138285837 TNS1 Synonymous SNV S404S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.719 157965 chr16 20359783 20359783 G A rs78691203 UMOD Synonymous SNV P280P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.44 157966 chr3 186570766 186570766 C T ADIPOQ-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 5.6 157967 chr4 126240953 126240953 T C FAT4 Synonymous SNV F1129F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.617 157968 chr12 52077999 52077999 T C SCN8A Synonymous SNV F106F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.651 157969 chr4 139937271 139937271 C T rs552158252 NOCT Synonymous SNV L46L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.86 157970 chr3 195966515 195966515 A G PCYT1A Nonsynonymous SNV V267A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26 157971 chr3 127379560 127379560 C T rs759498460 PODXL2 Nonsynonymous SNV S230L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 157972 chr3 127396311 127396311 G C ABTB1 Nonsynonymous SNV D114H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 157973 chr16 29821429 29821429 - GCG rs751657896 MAZ A143_V144insA 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 157974 chr2 141032087 141032087 G C rs148187862 LRP1B Nonsynonymous SNV R4350G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 157975 chr16 29993207 29993207 C A rs142801026 TAOK2 Nonsynonymous SNV D259E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.79 157976 chr3 196675397 196675397 G A rs144088027 PIGZ Nonsynonymous SNV A124V 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.001 157977 chr16 30365575 30365575 G C rs138094776 CD2BP2 Nonsynonymous SNV S49R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.5 157978 chr3 19574959 19574959 G A rs138090756 KCNH8 Nonsynonymous SNV V898I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 157979 chr3 128976663 128976663 G A rs4927952 COPG1 Synonymous SNV L277L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 1.547 157980 chr3 128979593 128979593 C T rs140121874 COPG1 Synonymous SNV I357I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 11.89 157981 chr3 25761572 25761572 T C rs74650888 NGLY1 Synonymous SNV Q556Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.525 157982 chr2 152303085 152303085 T C rs140199402 RIF1 Nonsynonymous SNV F747S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 157983 chr6 162683750 162683750 C T rs139083077 PRKN Synonymous SNV P73P 0.006 0 0 0 7 0 0 0 0 0 0 0 12.64 157984 chr16 31500065 31500065 G A rs537966489 SLC5A2 Nonsynonymous SNV G418S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.119 157985 chr3 24003672 24003672 C G rs770012545 NR1D2 Nonsynonymous SNV S166C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 157986 chr16 48248880 48248880 C T rs768277235 ABCC11 Nonsynonymous SNV S387N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.132 157987 chr16 49669583 49669583 C T rs200335668 ZNF423 Synonymous SNV S1043S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.66 157988 chr3 27216236 27216236 G T rs140958685 NEK10 Nonsynonymous SNV P177H 0.002 0 0 0 2 0 0 0 0 0 0 0 21 157989 chr3 37067280 37067280 G A rs35164771 MLH1 Synonymous SNV L39L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.99 157990 chr3 27352483 27352483 A C NEK10 Nonsynonymous SNV V198G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 157991 chr16 53515612 53515612 A G rs751671921 RBL2 Synonymous SNV P1014P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.14 157992 chr3 3111941 3111941 C T rs768267736 IL5RA Nonsynonymous SNV G411R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 157993 chr4 164436580 164436580 C T rs200056385 TMA16 Nonsynonymous SNV R119W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 157994 chr3 38793735 38793735 A T rs1060501716 SCN10A Nonsynonymous SNV L577H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.089 157995 chr12 55886665 55886666 CT - OR6C68 Stop gain S169* 0 0 0 1 0 0 0.003 0 0 0 0 0 157996 chr4 169176996 169176996 G A rs61732255 DDX60 Synonymous SNV N1141N 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 6.932 157997 chr2 166223785 166223785 C A rs367546924 SCN2A Synonymous SNV L1193L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.02 157998 chr16 57601855 57601855 A G rs144418743 ADGRG5 Synonymous SNV A303A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.38 157999 chr3 142186819 142186819 G A ATR Nonsynonymous SNV A2151V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 158000 chr16 58541762 58541762 C T rs144494221 NDRG4 Nonsynonymous SNV T242M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 158001 chr6 27925174 27925174 C T rs201201087 OR2B6 Synonymous SNV D52D 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 9.09 158002 chr2 175215453 175215453 A T rs202221040 CIR1 Synonymous SNV G204G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 158003 chr2 24247126 24247126 G A rs376746094 MFSD2B Nonsynonymous SNV R492Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 158004 chr16 67320657 67320657 C T PLEKHG4 Synonymous SNV N839N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 158005 chr16 67681754 67681754 A C CARMIL2 Synonymous SNV R322R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.248 158006 chr16 67918030 67918030 C T rs142793660 EDC4 Synonymous SNV L1395L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.54 158007 chr3 9516199 9516199 C T rs6779961 SETD5 Synonymous SNV S1188S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 16.78 158008 chr3 42799674 42799674 T C rs34234072 CCDC13 Nonsynonymous SNV D55G 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.004 158009 chr3 16327884 16327884 T G rs534773677 OXNAD1 Nonsynonymous SNV S91R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.117 158010 chr3 16327885 16327885 G T rs558057290 OXNAD1 Stop gain E92X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 158011 chr4 186435902 186435902 G A PDLIM3 Nonsynonymous SNV A158V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.99 158012 chr3 171377038 171377038 G A rs961516193 PLD1 Synonymous SNV G760G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 158013 chr3 172028632 172028632 C T rs774885497 FNDC3B Synonymous SNV N405N 0 0 0.01 0 0 0 0 3 0 0 0 0 17.3 158014 chr16 75269194 75269194 G A rs144046270 BCAR1 Nonsynonymous SNV R325C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 158015 chr3 49050849 49050849 G A WDR6 Nonsynonymous SNV V602I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 158016 chr6 36343663 36343663 G A rs775769716 ETV7 Nonsynonymous SNV R17C 0.007 0 0 0 8 0 0 0 0 0 0 0 31 158017 chr4 103226202 103226202 A G rs373071024 SLC39A8 Nonsynonymous SNV Y140H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 29.4 158018 chr2 182521600 182521600 C T rs568128856 CERKL Nonsynonymous SNV R45Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.18 158019 chr3 184298952 184298952 G C rs147185039 EPHB3 Nonsynonymous SNV G911R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.31 158020 chr12 97085057 97085057 G A rs781045058 CFAP54 Nonsynonymous SNV R2078H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.7 158021 chr3 52282361 52282361 A C rs374106406 PPM1M Nonsynonymous SNV Y57S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.06 158022 chr3 184567766 184567766 A G rs1048271900 VPS8 Nonsynonymous SNV I224V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 158023 chr3 52441269 52441269 C T rs148631953 BAP1 Synonymous SNV A167A 0.003 0.01 0 0 4 4 0 0 0 0 0 0 Benign/Likely benign 16.64 158024 chr12 102589769 102589769 G A rs149228765 PARPBP Synonymous SNV T399T 0.003 0 0 4 3 0 0.01 0 0 0 0 0 10.45 158025 chr3 52595971 52595971 G A rs371730711 PBRM1 Nonsynonymous SNV S1367F 0.003 0 0 0 3 0 0 0 0 0 0 0 32 158026 chr12 106804606 106804606 T G POLR3B Synonymous SNV V265V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.15 158027 chr4 38051499 38051499 A G rs140029744 TBC1D1 Synonymous SNV T630T 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 Benign 5.58 158028 chr4 38831007 38831007 C T rs137992076 TLR6 Nonsynonymous SNV D30N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.28 158029 chr12 109673448 109673448 A T rs113524436 ACACB Nonsynonymous SNV D1481V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 28.3 158030 chr3 195254671 195254671 T - rs771171340 PPP1R2 R20Dfs*14 0 0 0.003 1 0 0 0.003 1 0 0 0 0 158031 chr3 58186800 58186800 G A rs766863196 DNASE1L3 Nonsynonymous SNV T127I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 158032 chr3 195491903 195491903 C T rs114423071 MUC4 Nonsynonymous SNV R343H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.5 158033 chr3 52728939 52728939 C T GLT8D1 Stop gain W346X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 158034 chr2 202498081 202498081 C T rs191125006 TMEM237 Synonymous SNV A116A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.14 158035 chr2 54028956 54028956 G A rs201645542 ERLEC1 Nonsynonymous SNV V286M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 158036 chr3 66431945 66431945 C T rs761627996 LRIG1 Nonsynonymous SNV A910T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.732 158037 chr3 195959943 195959943 G A rs775291391 SLC51A Nonsynonymous SNV C299Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 158038 chr3 57291053 57291053 G T rs577975726 APPL1 Nonsynonymous SNV R407S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 158039 chr2 5832892 5832892 C A rs1008105213 SOX11 Nonsynonymous SNV N13K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 158040 chr3 57678562 57678562 G A rs745734173 DENND6A Synonymous SNV L62L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 158041 chr3 9714418 9714418 A G rs201904466 MTMR14 Nonsynonymous SNV T243A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 158042 chr12 121177120 121177120 A G rs566325901 ACADS Nonsynonymous SNV M370V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 26.1 158043 chr16 89351108 89351108 G A rs764479350 ANKRD11 Synonymous SNV S614S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.594 158044 chr16 89613145 89613145 C T rs61755320 SPG7 Nonsynonymous SNV A510V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 158045 chr2 69177311 69177311 T C rs61739918 GKN2 Nonsynonymous SNV I51V 0.004 0 0.014 1 5 0 0.003 4 0 0 0 0 0.001 158046 chr3 9792107 9792107 G A rs104893751 OGG1 Nonsynonymous SNV R46Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 34 158047 chr3 38045785 38045785 T A rs369345231 VILL Nonsynonymous SNV F412L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 158048 chr3 38051967 38051967 G A rs78861435 PLCD1 Nonsynonymous SNV R314C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 17.15 158049 chr3 38052837 38052837 C T rs138222328 PLCD1 Nonsynonymous SNV E241K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.731 158050 chr3 78663873 78663873 C T rs200590399 ROBO1 Nonsynonymous SNV V1354I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.048 158051 chr3 98518530 98518530 T C rs111245657 DCBLD2 Nonsynonymous SNV I672V 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.002 158052 chr6 64410308 64410308 A C PHF3 Nonsynonymous SNV E929D 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 158053 chr12 122332699 122332699 T A rs147461674 PSMD9 Nonsynonymous SNV S65T 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 3.476 158054 chr12 124229303 124229303 G A rs143142641 ATP6V0A2 Nonsynonymous SNV A496T 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.038 158055 chr3 39228430 39228430 C T rs763435268 XIRP1 Nonsynonymous SNV R836H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 158056 chr12 124333279 124333279 C T rs374094647 DNAH10 Synonymous SNV A1866A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.96 158057 chr3 40293458 40293462 AAGGA - MYRIP K655Hfs*50 0 0 0.003 0 0 0 0 1 0 0 0 0 158058 chr17 1840677 1840677 C T rs181444163 RTN4RL1 Nonsynonymous SNV G147S 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 Benign 31 158059 chr2 219509313 219509313 G A rs371849645 ZNF142 Synonymous SNV H642H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 158060 chr2 85108081 85108081 G A TRABD2A Nonsynonymous SNV T28I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.735 158061 chr4 110223094 110223094 C A rs752475331 COL25A1 Nonsynonymous SNV A28S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 158062 chr17 3422073 3422073 C T rs75319568 TRPV3 Nonsynonymous SNV A628T 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 12.45 158063 chr4 72316953 72316953 G A rs201149572 SLC4A4 Synonymous SNV T375T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 13.52 158064 chr3 44775971 44775971 A G ZNF501 Nonsynonymous SNV K20E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 158065 chr17 3495509 3495509 G A rs374551120 TRPV1 Nonsynonymous SNV R46C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 158066 chr4 104101545 104101545 C A rs375549626 CENPE Nonsynonymous SNV V389L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 158067 chr6 96988480 96988480 G C rs118021320 UFL1 Nonsynonymous SNV V410L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.14 158068 chr3 46775312 46775312 G A PRSS46P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 158069 chr4 120182920 120182920 T C rs61758375 USP53 Synonymous SNV L291L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.507 158070 chr17 4447854 4447854 G A rs369763912 MYBBP1A Nonsynonymous SNV R857W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 158071 chr4 114275400 114275400 G C ANK2 Nonsynonymous SNV E1876Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 158072 chr3 47956384 47956384 T C rs201643728 MAP4 Nonsynonymous SNV E641G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.746 158073 chr3 48732363 48732363 T C rs200668427 IP6K2 Nonsynonymous SNV H176R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.251 158074 chr3 105495314 105495314 A T rs528546809 CBLB Synonymous SNV G192G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.549 158075 chr17 5358491 5358491 T C rs951485344 DHX33 Nonsynonymous SNV K206R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.1 158076 chr2 232458482 232458482 C T rs150621017 TEX44 Nonsynonymous SNV R274C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20.6 158077 chr4 13601506 13601506 T C rs200376796 BOD1L1 Nonsynonymous SNV I2340V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 158078 chr3 111261101 111261101 G C rs748439597 CD96 Nonsynonymous SNV E2D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 158079 chr3 51457820 51457820 G A rs782444653 DCAF1 Synonymous SNV T733T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.154 158080 chr4 126371306 126371306 C T rs146492311 FAT4 Synonymous SNV S3047S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 11.19 158081 chr2 234591411 234591411 C A rs141393523 UGT1A7 Nonsynonymous SNV N276K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 158082 chr3 52469681 52469681 T C SEMA3G Nonsynonymous SNV K763E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 158083 chr4 152096010 152096010 C G rs777645889 SH3D19 Nonsynonymous SNV R169P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 158084 chr4 88533290 88533290 G A rs200641947 DSPP Nonsynonymous SNV E29K 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 20.6 158085 chr2 237240096 237240096 C T rs754197069 IQCA1 Nonsynonymous SNV R719Q 0.003 0 0 0 3 0 0 0 0 0 0 0 11.35 158086 chr2 238283178 238283178 C T rs144976132 COL6A3 Nonsynonymous SNV V579M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.8 158087 chr4 145655922 145655922 C T rs200321873 HHIP Nonsynonymous SNV T597M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.05 158088 chr3 113775381 113775381 G C rs765828818 CCDC191 Synonymous SNV T16T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.991 158089 chr3 57494263 57494263 G T rs79825658 DNAH12 Nonsynonymous SNV L183I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 158090 chr17 8216349 8216349 C T rs537744294 ARHGEF15 Synonymous SNV V237V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.134 158091 chr4 41648550 41648550 C G rs61743760 LIMCH1 Synonymous SNV S269S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 13.15 158092 chr4 42145605 42145605 C T rs148903882 BEND4 Synonymous SNV T298T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.02 158093 chr3 63981358 63981358 T C ATXN7 Synonymous SNV A475A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.557 158094 chr3 69038160 69038160 G A rs17048266 EOGT Synonymous SNV Y280Y 0 0 0.007 0 0 0 0 2 0 0 0 0 9.995 158095 chr2 242077452 242077452 - A rs751329411 PASK Frameshift insertion S265Vfs*64 0.001 0 0 0 1 0 0 0 0 0 0 0 158096 chr2 242179356 242179356 C T rs773929734 HDLBP Nonsynonymous SNV R751Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 158097 chr4 17636727 17636727 T C FAM184B Nonsynonymous SNV R932G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 158098 chr4 57907014 57907014 C T rs35855328 IGFBP7 Synonymous SNV P187P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 15.8 158099 chr5 124080457 124080457 T A rs773021875 ZNF608 Nonsynonymous SNV T76S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.564 158100 chr4 176556151 176556151 T C rs200616395 GPM6A Nonsynonymous SNV M213V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.77 158101 chr7 117199641 117199641 A G rs1800091 CFTR Nonsynonymous SNV I506V 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 158102 chr4 10080275 10080275 G C MIR3138 0 0 0.003 0 0 0 0 1 0 0 0 0 0.879 158103 chr4 184367321 184367321 T C CDKN2AIP Nonsynonymous SNV S162P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.172 158104 chr4 676617 676617 G A rs146716957 SLC49A3 Nonsynonymous SNV P287L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.213 158105 chr4 10446935 10446935 G A ZNF518B Nonsynonymous SNV P340S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 158106 chr17 19999969 19999969 G A rs769026981 SPECC1 Nonsynonymous SNV R2Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 158107 chr5 132159863 132159863 C G rs766989508 SHROOM1 Nonsynonymous SNV S497T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.852 158108 chr7 127669278 127669278 C T rs369764530 LRRC4 Synonymous SNV K472K 0.004 0 0 0 5 0 0 0 0 0 0 0 7.43 158109 chr4 115858508 115858508 C T NDST4 Nonsynonymous SNV R458Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 158110 chr4 119659502 119659502 C A SEC24D Nonsynonymous SNV V805F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 158111 chr4 119659506 119659506 C A SEC24D Nonsynonymous SNV L803F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 158112 chr7 138555972 138555972 G A rs370673449 KIAA1549 Synonymous SNV I1494I 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 8.154 158113 chr4 77230997 77230997 G T STBD1 Nonsynonymous SNV W307C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 158114 chr2 45829168 45829168 C T rs140742578 SRBD1 Synonymous SNV K45K 0.004 0 0 0 5 0 0 0 0 0 0 0 13.39 158115 chr17 30677203 30677203 G A rs200670507 MIR632 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.98 158116 chr4 2934118 2934118 A G rs146978897 MFSD10 Nonsynonymous SNV I218T 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 23.5 158117 chr4 39318536 39318536 T C rs1003176717 RFC1 Nonsynonymous SNV K375R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 158118 chr4 134076097 134076097 G C rs768230100 PCDH10 Nonsynonymous SNV V906L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 158119 chr5 140481313 140481313 G C rs782527182 PCDHB3 Synonymous SNV S360S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.791 158120 chr17 33503002 33503002 G A rs369753159 UNC45B Synonymous SNV L579L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.86 158121 chr4 141214528 141214528 C T rs751239574 SCOC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.235 158122 chr17 34202627 34202635 TTGGCATCC - rs760048095 CCL5 R67_P69del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 158123 chr4 36163168 36163168 C G rs201125587 ARAP2 Nonsynonymous SNV Q726H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 158124 chr7 141920237 141920237 A G rs189549131 MGAM2 Nonsynonymous SNV T1976A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.217 158125 chr4 148554111 148554111 G A rs772042664 TMEM184C Synonymous SNV T279T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 158126 chr4 15004509 15004509 G T CPEB2 Nonsynonymous SNV G71V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.1 158127 chr4 8582933 8582933 C T rs377656684 GPR78 Nonsynonymous SNV A75V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.723 158128 chr2 63714613 63714613 A T rs202196322 WDPCP Nonsynonymous SNV I59N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.24 158129 chr4 8621331 8621331 T C rs769428369 CPZ Nonsynonymous SNV L638P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 158130 chr4 46099226 46099226 T C rs752846754 GABRG1 Nonsynonymous SNV D82G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 158131 chr2 71654287 71654287 C T rs140596491 ZNF638 Nonsynonymous SNV A1763V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 158132 chr4 501340 501340 G A PIGG Nonsynonymous SNV M239I 0.005 0.005 0 0 6 2 0 0 0 0 0 0 25.2 158133 chr4 177056340 177056340 A G rs59567138 WDR17 Nonsynonymous SNV I394V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.38 158134 chr2 74751392 74751392 G C rs34084523 DQX1 Synonymous SNV T158T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.13 158135 chr5 110079466 110079466 T G SLC25A46 Nonsynonymous SNV I121S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 28.6 158136 chr4 178272700 178272700 A G rs17064676 NEIL3 Nonsynonymous SNV I346V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 158137 chr3 173998482 173998482 C A NLGN1 Nonsynonymous SNV Q621K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 158138 chr4 71068475 71068475 A T ODAM Synonymous SNV S217S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.098 158139 chr5 114482888 114482888 T C rs201872951 TRIM36 Nonsynonymous SNV T13A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 158140 chr4 75937930 75937930 C A rs141560785 PARM1 Nonsynonymous SNV S113R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.4 158141 chr4 7677944 7677944 C G SORCS2 Nonsynonymous SNV I443M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 158142 chr3 183975408 183975408 G A rs148306373 EEF1AKMT4, EEF1AKMT4-ECE2 Nonsynonymous SNV R115Q 0.004 0 0 0 5 0 0 0 0 0 0 0 27.7 158143 chr4 77033659 77033659 T C rs111391305 ART3 Nonsynonymous SNV F364S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.75 158144 chr4 77228043 77228043 G T rs147138225 STBD1 Nonsynonymous SNV D41Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 158145 chr4 77228059 77228059 G A rs151238403 STBD1 Nonsynonymous SNV G46E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 158146 chr4 77247053 77247053 C T rs187564907 CCDC158 Synonymous SNV Q1038Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.542 158147 chr4 77247061 77247061 T C rs190874270 CCDC158 Nonsynonymous SNV T1036A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 158148 chr4 77288627 77288627 A G rs17001822 CCDC158 Synonymous SNV C550C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 158149 chr4 77288882 77288882 G A rs77751461 CCDC158 Synonymous SNV S465S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.979 158150 chr4 77290579 77290579 C T rs77341402 CCDC158 Synonymous SNV Q449Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 158151 chr4 77305277 77305277 G A rs28756797 CCDC158 Synonymous SNV D230D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.664 158152 chr4 77324343 77324343 C A rs28580836 CCDC158 Nonsynonymous SNV W6C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 158153 chr7 18697618 18697618 G A rs1056641247 HDAC9 Nonsynonymous SNV A535T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.995 158154 chr17 42982331 42982331 G T rs756110199 FAM187A Synonymous SNV V378V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.82 158155 chr7 21654880 21654880 T C rs72657309 DNAH11 Nonsynonymous SNV I1334T 0.01 0.005 0 1 12 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.42 158156 chr17 46257436 46257438 TCT - rs766912367 SKAP1 E268del 0 0 0 1 0 0 0.003 0 0 0 0 0 158157 chr4 2877771 2877771 A G rs146519461 ADD1 Synonymous SNV P43P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 7.677 158158 chr5 132161049 132161049 G C SHROOM1 Nonsynonymous SNV H262D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.747 158159 chr7 21956408 21956408 G A rs200312608 CDCA7L Synonymous SNV S43S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 12.85 158160 chr17 47869334 47869334 C T KAT7 Synonymous SNV G34G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.76 158161 chr4 7677887 7677887 C T rs775480246 SORCS2 Synonymous SNV Y424Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.447 158162 chr4 77305440 77305440 C T rs200015744 CCDC158 Nonsynonymous SNV R176Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24 158163 chr17 48631753 48631753 C T rs781267820 SPATA20 Nonsynonymous SNV P684L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 158164 chr4 79841729 79841729 A G rs981355108 PAQR3 Synonymous SNV H300H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.654 158165 chr4 81188203 81188203 G A rs147750874 FGF5 Synonymous SNV E75E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.771 158166 chr14 64194425 64194425 G C SGPP1 Nonsynonymous SNV P80A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 158167 chr5 176952023 176952023 G A rs201707860 FAM193B Nonsynonymous SNV R487C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 158168 chr14 64492030 64492030 A G rs751378753 SYNE2 Nonsynonymous SNV D2048G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 158169 chr17 56428819 56428819 T C SUPT4H1 Synonymous SNV L40L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.541 158170 chr3 118645059 118645059 T A rs370506403 IGSF11 Nonsynonymous SNV I157F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 158171 chr5 179267925 179267925 T C rs778979584 MRNIP Nonsynonymous SNV S107G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 158172 chr3 119135085 119135085 G A rs759331848 ARHGAP31 Nonsynonymous SNV G1437R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 158173 chr4 88029316 88029316 C A rs367706809 AFF1 Nonsynonymous SNV P92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 158174 chr7 4153008 4153008 C T rs137958594 SDK1 Synonymous SNV D1174D 0.003 0 0 0 4 0 0 0 0 0 0 0 13.42 158175 chr5 102490411 102490411 T G rs35671301 PPIP5K2 Nonsynonymous SNV S419A 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 12.05 158176 chr17 61895495 61895495 C T rs772723138 DDX42 Nonsynonymous SNV R852C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 158177 chr5 1038205 1038205 C T rs182715653 NKD2 Nonsynonymous SNV P358L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.51 158178 chr4 57181359 57181359 C T rs200991737 KIAA1211 Nonsynonymous SNV T564M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 158179 chr3 37336483 37336483 A T rs375759795 GOLGA4 Nonsynonymous SNV D199V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 158180 chr4 952202 952202 G T rs570462409 TMEM175 Nonsynonymous SNV G396V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.5 158181 chr17 71344837 71344837 G A rs759910725 SDK2 Synonymous SNV S2022S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.45 158182 chr5 40936530 40936530 G C rs774214224 C7 Nonsynonymous SNV R124T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.759 158183 chr7 48626831 48626831 C T rs201669903 ABCA13 Nonsynonymous SNV R4863W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 158184 chr3 128344726 128344726 C T rs147813680 RPN1 Synonymous SNV Q422Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 158185 chr7 4917282 4917282 C T rs754875128 RADIL Synonymous SNV S163S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 9.251 158186 chr7 50023065 50023065 G A rs369938364 ZPBP Synonymous SNV G277G 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 8.26 158187 chr5 42689025 42689025 G A rs373412197 GHR Nonsynonymous SNV R35H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 34 158188 chr3 43389253 43389253 T G SNRK Nonsynonymous SNV M295R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 158189 chr17 72700691 72700691 G A rs902295187 CD300LF Nonsynonymous SNV A103V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 158190 chr17 72745019 72745019 C T rs777026648 SLC9A3R1 Nonsynonymous SNV P12S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 158191 chr5 151179782 151179782 G A rs190948129 G3BP1 Nonsynonymous SNV R320H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 158192 chr3 130422706 130422706 C A PIK3R4 Nonsynonymous SNV A987S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 158193 chr3 45800572 45800572 G A rs200277005 SLC6A20 Synonymous SNV I522I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 158194 chr3 132297742 132297742 T C rs372363236 NPHP3-ACAD11 0.001 0 0 0 1 0 0 0 0 0 0 0 3.652 158195 chr17 73745110 73745110 C T ITGB4 Synonymous SNV I1100I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.8 158196 chr5 136403500 136403500 C T rs923596178 SPOCK1 Nonsynonymous SNV A165T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 158197 chr7 6193761 6193761 C T rs775947852 USP42 Nonsynonymous SNV P859L 0.006 0 0 1 7 0 0.003 0 0 0 0 0 24.2 158198 chr7 6193974 6193974 C G rs1038602703 USP42 Nonsynonymous SNV P930R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.009 158199 chr5 60825947 60825947 G A rs140760439 ZSWIM6 Nonsynonymous SNV V636M 0.008 0.018 0.01 3 9 7 0.008 3 0 0 0 0 Benign 28.2 158200 chr7 6449551 6449551 G A rs138713047 DAGLB Nonsynonymous SNV R517W 0.015 0 0 1 18 0 0.003 0 0 0 0 0 26.1 158201 chr5 133476570 133476570 C T TCF7 Nonsynonymous SNV P125L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 158202 chr5 133478475 133478475 C T rs147096093 TCF7 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 158203 chr5 133887867 133887867 C T rs148698918 JADE2 Synonymous SNV A93A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.76 158204 chr5 134191106 134191106 A G rs749013674 C5orf24 Synonymous SNV A172A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.206 158205 chr3 47384268 47384268 A G KLHL18 Nonsynonymous SNV E429G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 158206 chr17 76120993 76120993 G A rs139654750 TMC6 Nonsynonymous SNV R204W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.48 158207 chr5 139941732 139941732 C T APBB3 Synonymous SNV Q193Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.556 158208 chr5 137495794 137495794 C T rs149623831 BRD8 Synonymous SNV G791G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 158209 chr5 70898412 70898412 C T rs141030969 MCCC2 Nonsynonymous SNV R155W 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 158210 chr5 71743097 71743097 C T rs145476513 ZNF366 Nonsynonymous SNV V558I 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 28.8 158211 chr7 75615301 75615301 T C rs56256515 POR Nonsynonymous SNV L577P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 26.1 158212 chr3 148930239 148930239 C T rs754943824 CP Synonymous SNV E131E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 158213 chr5 142258953 142258953 C T rs144661167 ARHGAP26 Synonymous SNV S109S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 18.27 158214 chr7 77789465 77789465 G C rs772788663 MAGI2 Nonsynonymous SNV P894A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.224 158215 chr5 178413541 178413541 G A rs148524969 GRM6 Nonsynonymous SNV R572C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23 158216 chr17 78269525 78269525 G C RNF213 Nonsynonymous SNV D642H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 158217 chr5 146258290 146258290 - GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSSSSSSS 0.003 0 0 0 4 0 0 0 0 0 0 0 158218 chr5 140725690 140725690 T C rs775333525 PCDHGA3 Nonsynonymous SNV V697A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 158219 chr3 16411752 16411752 C T rs139647602 RFTN1 Synonymous SNV K287K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 158220 chr3 16450927 16450927 T G rs148849759 RFTN1 Nonsynonymous SNV L132F 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 11 158221 chr5 112420971 112420971 C T rs374170469 MCC Nonsynonymous SNV A289T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 158222 chr3 56653463 56653463 C T rs202228962 CCDC66 Nonsynonymous SNV P815L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 158223 chr17 79899517 79899553 CAGCCAAAGGCCAGCTGCAGCACGCGGGCTGTGCCCA - MYADML2 V22Afs*115 0 0 0 1 0 0 0.003 0 0 0 0 0 158224 chr5 115394547 115394547 G T ARL14EPL Nonsynonymous SNV G121V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 158225 chr5 150481012 150481012 G A rs143367664 ANXA6 Synonymous SNV D641D 0.003 0 0 0 3 0 0 0 0 0 0 0 10.69 158226 chr5 32090775 32090775 C T rs200764853 PDZD2 Synonymous SNV A2407A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.38 158227 chr3 179460042 179460042 C T rs200761055 USP13 Nonsynonymous SNV R480C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 35 158228 chr5 90106685 90106685 A G rs202106463 ADGRV1 Nonsynonymous SNV E5203G 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 158229 chr18 198133 198133 G A USP14 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 158230 chr5 145537064 145537064 T C rs754428997 LARS1 Nonsynonymous SNV I277V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.303 158231 chr3 69986984 69986984 C T rs140663277 MITF Synonymous SNV H15H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 8.238 158232 chr5 35700823 35700823 T G SPEF2 Synonymous SNV T789T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.061 158233 chr18 3102499 3102499 C T rs147050513 MYOM1 Nonsynonymous SNV R1087Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.9 158234 chr5 147493992 147493992 C T rs191160111 SPINK5 Nonsynonymous SNV P652L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 158235 chr5 158699069 158699069 C A rs552101899 UBLCP1 Synonymous SNV R163R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.83 158236 chr3 93733475 93733475 T A STX19 Nonsynonymous SNV E213D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 158237 chr6 109319860 109319860 G A rs748066551 SESN1 Synonymous SNV F217F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.06 158238 chr3 9803155 9803155 C T rs748209976 CAMK1 Nonsynonymous SNV A208T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 158239 chr5 45695973 45695981 CGCCGCCGC - rs769413686 HCN1 G72_G74del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 158240 chr3 9971758 9971758 A G rs138063632 IL17RC Synonymous SNV R369R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 6.309 158241 chr5 140516069 140516069 C G PCDHB5 Synonymous SNV L351L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 158242 chr5 141034950 141034950 C T rs72792351 ARAP3 Synonymous SNV R1376R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.4 158243 chr18 29101156 29101156 T G rs191143292 DSG2 Nonsynonymous SNV V158G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 23.6 158244 chr5 177641881 177641881 A C PHYKPL Nonsynonymous SNV V322G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.63 158245 chr5 158526359 158526359 G A EBF1 Nonsynonymous SNV A43V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 158246 chr18 32843952 32843952 A G rs199807098 ZSCAN30 Nonsynonymous SNV M122T 0.003 0.003 0.003 5 4 1 0.013 1 0 0 0 0 20.5 158247 chr18 33272176 33272176 G A rs370655972 GALNT1 Synonymous SNV S397S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.77 158248 chr4 110384624 110384624 T C rs192938684 SEC24B Nonsynonymous SNV I234T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.772 158249 chr5 162870679 162870679 G C CCNG1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.442 158250 chr5 179260601 179260601 G A rs146164139 SQSTM1 Synonymous SNV S328S 0.005 0.013 0.003 1 6 5 0.003 1 0 0 0 0 Benign 13.68 158251 chr3 21462865 21462865 T G ZNF385D Synonymous SNV A343A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 158252 chr18 34802114 34802114 G A rs756834650 KIAA1328 Nonsynonymous SNV R445Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 158253 chr6 131215560 131215560 T C EPB41L2 Nonsynonymous SNV I69V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 158254 chr18 44229132 44229132 G A rs200306249 LOXHD1 Synonymous SNV L77L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.329 158255 chr4 115544757 115544757 A G rs181812605 UGT8 Nonsynonymous SNV M241V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 158256 chr5 169509815 169509815 G T rs144315682 DOCK2 Nonsynonymous SNV A1816S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.003 158257 chr6 133077101 133077101 A G rs917019142 VNN2 Synonymous SNV L140L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.115 158258 chr6 134349668 134349668 G A rs200231388 SLC2A12 Nonsynonymous SNV T432M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 158259 chr5 22078724 22078724 G A rs142596033 CDH12 Nonsynonymous SNV T21I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 13.91 158260 chr6 137332551 137332551 C T rs142251595 IL20RA Nonsynonymous SNV R39K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.3 158261 chr5 175819916 175819916 G A rs146144599 CLTB Synonymous SNV S98S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.63 158262 chr4 122735129 122735129 T G EXOSC9 Synonymous SNV G361G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.248 158263 chr5 35014143 35014143 C T AGXT2 Nonsynonymous SNV A349T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 158264 chr4 125592520 125592520 C T ANKRD50 Nonsynonymous SNV D459N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 158265 chr3 38655282 38655282 G A rs762012668 SCN5A Nonsynonymous SNV R219C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 19.06 158266 chr5 80628297 80628297 C T rs141598728 ACOT12 Nonsynonymous SNV G464S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.829 158267 chr5 158634775 158634775 T C rs148563155 RNF145 Synonymous SNV L11L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 158268 chr8 144808250 144808250 G A FAM83H Synonymous SNV R1127R 0.003 0 0 0 4 0 0 0 0 0 0 0 6.867 158269 chr8 144874229 144874229 C T rs782189995 SCRIB Nonsynonymous SNV R1530Q 0.003 0 0 0 4 0 0 0 0 0 0 0 33 158270 chr5 1801645 1801645 G A rs767654944 NDUFS6 Synonymous SNV K38K 0.003 0 0 0 4 0 0 0 0 0 0 0 9.734 158271 chr4 147215190 147215190 T C rs201948152 SLC10A7 Nonsynonymous SNV I192V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 158272 chr5 94619926 94619926 C T rs199763347 MCTP1 Synonymous SNV G118G 0.002 0 0 0 2 0 0 0 0 0 0 0 19.74 158273 chr5 192443 192443 G A LRRC14B Nonsynonymous SNV E264K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.717 158274 chr18 72775965 72775965 G C rs373510945 ZNF407 Nonsynonymous SNV Q2096H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 158275 chr5 173416347 173416347 T A rs943081071 C5orf47 Nonsynonymous SNV S27R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 158276 chr5 175581848 175581848 G A rs17670877 LOC643201 0 0 0.003 0 0 0 0 1 0 0 0 0 4.759 158277 chr5 54424296 54424296 T C rs144412288 CDC20B Nonsynonymous SNV K283E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 158278 chr8 145003653 145003653 C T rs201782280 PLEC Nonsynonymous SNV V990M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.3 158279 chr5 176019747 176019747 - T CDHR2 Frameshift insertion V1254Cfs*90 0 0 0.003 0 0 0 0 1 0 0 0 0 158280 chr18 77208881 77208881 C T rs774544804 NFATC1 Nonsynonymous SNV R24C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 158281 chr3 46719860 46719860 T C rs140347863 ALS2CL Nonsynonymous SNV N549S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 158282 chr5 55204190 55204190 C T IL31RA Synonymous SNV I465I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 158283 chr5 55206467 55206467 G A rs771263167 IL31RA Nonsynonymous SNV G518R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 158284 chr3 46982499 46982499 G A rs550041993 CCDC12 Synonymous SNV G51G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 158285 chr3 48265003 48265003 T C rs145296952 CAMP Star tloss M1? 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 23 158286 chr4 164272577 164272577 A G NPY5R Synonymous SNV L384L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.771 158287 chr5 179042562 179042562 T C rs150397420 HNRNPH1 Synonymous SNV Q425Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 158288 chr5 70806283 70806283 G A rs73775118 BDP1 Nonsynonymous SNV G1122R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 16.39 158289 chr5 40843764 40843764 C T rs199850471 CARD6 Nonsynonymous SNV S265L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.26 158290 chr5 6600071 6600071 A G rs149244771 NSUN2 Nonsynonymous SNV C723R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.457 158291 chr6 168349133 168349133 G A AFDN Nonsynonymous SNV S1245N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 158292 chr8 17512155 17512155 C A rs61999336 MTUS1 Synonymous SNV A115A 0.005 0 0 0 6 0 0 0 0 0 0 0 22.5 158293 chr5 24509826 24509826 T C CDH10 Nonsynonymous SNV T369A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 158294 chr15 74707067 74707067 G A rs774178143 SEMA7A Nonsynonymous SNV P358L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 158295 chr6 116432094 116432094 G A rs746490840 NT5DC1 Synonymous SNV S113S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 158296 chr6 116720466 116720466 G T rs76186865 DSE Nonsynonymous SNV C18F 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 0.183 158297 chr6 116783585 116783585 G C rs76716752 CALHM6 Nonsynonymous SNV D165H 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 22.4 158298 chr6 116818225 116818225 C T rs114678052 TRAPPC3L Synonymous SNV A146A 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 19.89 158299 chr6 117130561 117130561 T G rs76688215 GPRC6A Synonymous SNV P138P 0.004 0 0 0 5 0 0 0 0 0 0 0 4.73 158300 chr6 117869594 117869594 C T rs210622 DCBLD1 Nonsynonymous SNV L714F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.99 158301 chr19 1482902 1482902 G T rs143738061 PCSK4 Nonsynonymous SNV F563L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.45 158302 chr19 1487614 1487614 C T rs143716976 PCSK4 Nonsynonymous SNV A224T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.4 158303 chr8 21966662 21966662 G T NUDT18 Nonsynonymous SNV F50L 0.005 0 0 0 6 0 0 0 0 0 0 0 14.09 158304 chr6 119234468 119234468 C T rs141321179 MCM9 Nonsynonymous SNV R341Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 158305 chr6 119669959 119669959 C T rs557552015 MAN1A1 Nonsynonymous SNV G91E 0.002 0 0 0 2 0 0 0 0 0 0 0 23 158306 chr6 18166602 18166602 C T KDM1B Nonsynonymous SNV P137L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 158307 chr4 185701573 185701573 C T rs114516038 ACSL1 Synonymous SNV S130S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 158308 chr8 22861981 22861981 G A rs144645186 RHOBTB2 Nonsynonymous SNV V19I 0.006 0 0 0 7 0 0 0 0 0 0 0 25.7 158309 chr5 79026218 79026218 G A rs758517033 CMYA5 Nonsynonymous SNV E544K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.85 158310 chr5 79031873 79031873 C T rs201183682 CMYA5 Nonsynonymous SNV L2429F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.34 158311 chr4 2242215 2242215 T A rs767387633 HAUS3 Synonymous SNV G153G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.902 158312 chr5 52363035 52363035 C A rs753933160 ITGA2 Synonymous SNV L677L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 158313 chr5 52397199 52397199 G A rs2233218 MOCS2 Nonsynonymous SNV H123Y 0.003 0 0.014 2 3 0 0.005 4 0 0 0 0 Uncertain significance 31 158314 chr4 2307158 2307158 G A rs565070365 ZFYVE28 Synonymous SNV P273P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.678 158315 chr19 4099229 4099229 G A rs562352756 MAP2K2 Nonsynonymous SNV R297W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 25.2 158316 chr19 4099277 4099277 G A rs759998177 MAP2K2 Nonsynonymous SNV R281W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.5 158317 chr5 54516854 54516854 G C MCIDAS Nonsynonymous SNV S236W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 158318 chr5 5462807 5462807 C T rs376280358 ICE1 Synonymous SNV S1120S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 158319 chr4 266040 266041 TT - ZNF732 K202Rfs*3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 158320 chr5 901527 901527 C T rs111928171 TRIP13 Synonymous SNV N172N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.81 158321 chr5 74325562 74325562 C T GCNT4 Nonsynonymous SNV D101N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 158322 chr4 3432582 3432582 C T rs151270602 RGS12 Synonymous SNV A690A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.01 158323 chr5 70806829 70806829 A G rs374907967 BDP1 Nonsynonymous SNV K1304E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 158324 chr8 3443692 3443692 G C rs376686325 CSMD1 Synonymous SNV L396L 0.007 0 0 0 8 0 0 0 0 0 0 0 1.464 158325 chr8 37555934 37555945 CGCCGCCGCCGC - rs778764305 ZNF703 A511_A514del 0.005 0 0 1 6 0 0.003 0 0 0 0 0 158326 chr8 37797446 37797446 G T rs376542678 GOT1L1 Nonsynonymous SNV F34L 0.005 0 0 0 6 0 0 0 0 0 0 0 22.9 158327 chr19 6306764 6306764 C T rs747092666 ACER1 Synonymous SNV L252L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.46 158328 chr5 75960919 75960921 CGA - IQGAP2 D363del 0 0 0.003 0 0 0 0 1 0 0 0 0 158329 chr19 6754693 6754693 A T rs760960995 SH2D3A Nonsynonymous SNV V344D 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 158330 chr6 109767004 109767004 T A MICAL1 Nonsynonymous SNV E795D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.746 158331 chr6 110448721 110448721 A C WASF1 Nonsynonymous SNV C28W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 158332 chr5 79032932 79032932 A T rs78092678 CMYA5 Nonsynonymous SNV M2782L 0.003 0 0.017 0 3 0 0 5 0 0 0 0 Benign 11.58 158333 chr5 79034027 79034027 G T rs114117919 CMYA5 Nonsynonymous SNV D3147Y 0.003 0 0.017 0 3 0 0 5 0 0 0 0 Benign 23.6 158334 chr6 111697364 111697364 G A REV3L Synonymous SNV L732L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.266 158335 chr8 62412051 62412053 GAG - rs35623706 CLVS1 E340del 0.007 0 0.003 0 8 0 0 1 0 0 0 0 158336 chr6 160234646 160234646 C G rs781459190 PNLDC1 Nonsynonymous SNV P318R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 158337 chr4 54876307 54876307 G C rs372598321 CHIC2 Nonsynonymous SNV I151M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 158338 chr19 8038724 8038724 G A rs114408443 ELAVL1 Synonymous SNV D105D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.36 158339 chr4 104081920 104081920 C T rs61744934 CENPE Synonymous SNV L691L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 13.13 158340 chr6 116288844 116288844 G A rs777365782 FRK Synonymous SNV T223T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 158341 chr6 117114050 117114050 G A rs118009892 GPRC6A Nonsynonymous SNV T608M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.161 158342 chr5 83525675 83525675 G A rs373427567 EDIL3 Nonsynonymous SNV A75V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 158343 chr19 8654187 8654187 G A rs781823511 ADAMTS10 Synonymous SNV G186G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.439 158344 chr6 42236379 42236379 C T rs139041282 TRERF1 Nonsynonymous SNV R317Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 158345 chr6 119245237 119245237 C T rs150976419 MCM9 Synonymous SNV V120V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 158346 chr5 908487 908487 C T rs140220222 TRIP13 Synonymous SNV A259A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.73 158347 chr6 122733526 122733526 A G rs139599852 HSF2 Synonymous SNV Q34Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 158348 chr5 96238011 96238011 G A rs551817978 ERAP2 Synonymous SNV T549T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.756 158349 chr4 656358 656358 C T rs775835569 PDE6B Synonymous SNV L210L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.32 158350 chr6 167754922 167754922 C T rs35888550 TTLL2 Nonsynonymous SNV R512W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 158351 chr6 168352219 168352219 C T rs6936112 AFDN Synonymous SNV L1371L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.488 158352 chr6 168352330 168352330 C T rs76831621 AFDN Synonymous SNV R1408R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 158353 chr6 168442760 168442760 A T rs114801535 KIF25 Nonsynonymous SNV N253I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.823 158354 chr5 98115503 98115503 G A RGMB Nonsynonymous SNV R119K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 158355 chr6 105776789 105776789 C T rs895096506 PREP Synonymous SNV P376P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 158356 chr6 130536389 130536389 G T SAMD3 Stop gain C34X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 158357 chr4 70460329 70460329 T A rs146749264 UGT2A1, UGT2A2 Synonymous SNV G355G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 10.13 158358 chr6 109627272 109627272 C T rs139751785 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 158359 chr6 133789804 133789804 G A rs75133151 EYA4 Nonsynonymous SNV G248D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.3 158360 chr6 109774465 109774465 C A rs138930729 MICAL1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 158361 chr6 144999679 144999679 A G rs142932212 UTRN Synonymous SNV R2539R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 7.215 158362 chr6 117083182 117083182 G A rs41305290 FAM162B Synonymous SNV L116L 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 11.01 158363 chr6 117686819 117686819 T C rs201121216 ROS1 Synonymous SNV Q966Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.452 158364 chr9 113457722 113457722 T C rs55980069 MUSK Nonsynonymous SNV I133T 0.007 0.003 0.003 2 8 1 0.005 1 1 0 0 0 Conflicting interpretations of pathogenicity 10.21 158365 chr6 122733836 122733836 A G HSF2 Nonsynonymous SNV D86G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 158366 chr6 125623011 125623011 A G rs373741822 HDDC2 Nonsynonymous SNV L23P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.2 158367 chr6 152738031 152738031 C T rs754506784 SYNE1 Synonymous SNV E1854E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 158368 chr19 10625470 10625470 A G rs761548591 S1PR5 Nonsynonymous SNV L73P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 158369 chr4 85750219 85750219 T C rs147661829 WDFY3 Synonymous SNV Q298Q 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 0.902 158370 chr4 8583237 8583237 C T rs145575866 GPR78 Synonymous SNV L176L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.41 158371 chr19 10795548 10795548 A T rs199972790 ILF3 X691C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.65 158372 chr6 136871541 136871541 C T rs370436385 MAP7 Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 158373 chr4 876543 876543 C T rs755596858 GAK Nonsynonymous SNV R411K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.519 158374 chr6 139048370 139048370 G A rs79937780 GVQW2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.999 158375 chr6 76022448 76022448 G A rs201283216 FILIP1 Nonsynonymous SNV R1034W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 158376 chr4 159789403 159789403 G C rs147318337 FNIP2 Nonsynonymous SNV G185R 0.007 0.008 0 5 8 3 0.013 0 1 0 0 0 Benign 15.14 158377 chr4 160264285 160264285 C T RAPGEF2 Nonsynonymous SNV P864S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26 158378 chr19 12223074 12223074 G A rs759226821 ZNF788P Nonsynonymous SNV G238S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 158379 chr6 147103196 147103196 C T rs569185405 ADGB Synonymous SNV S1301S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.77 158380 chr6 79912020 79912020 A C HMGN3 Synonymous SNV S61S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.332 158381 chr6 144224251 144224251 G C rs1056874540 ZC2HC1B Nonsynonymous SNV R187T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 158382 chr6 151744739 151744739 T A rs35188477 RMND1 Nonsynonymous SNV E116D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.53 158383 chr6 162475167 162475167 T G rs9456735 PRKN Nonsynonymous SNV M192L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.7 158384 chr6 152652447 152652447 A C rs764410604 SYNE1 Nonsynonymous SNV F4387C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 25.5 158385 chr5 102469302 102469302 C T rs367619357 PPIP5K2 Nonsynonymous SNV P87L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 158386 chr6 90460195 90460195 T C MDN1 Nonsynonymous SNV Q1095R 0 0.005 0 0 0 2 0 0 0 0 0 0 6.951 158387 chr6 90572091 90572091 C T rs182729426 CASP8AP2 Synonymous SNV H221H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.48 158388 chr6 155141367 155141367 G C rs144403254 SCAF8 Synonymous SNV V564V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.293 158389 chr6 155450649 155450649 G A rs145215986 TIAM2 Nonsynonymous SNV A98T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.095 158390 chr6 158454546 158454546 T G SYNJ2 Nonsynonymous SNV L182R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 158391 chr5 1112046 1112046 T G SLC12A7 Nonsynonymous SNV T21P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 158392 chr6 159104008 159104008 A G rs139839252 SYTL3 Synonymous SNV K127K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.123 158393 chr5 112128192 112128192 G A rs201727026 APC Nonsynonymous SNV R242Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 158394 chr6 17646351 17646351 G A rs778842384 NUP153 Nonsynonymous SNV T556I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 158395 chr6 160176194 160176194 G A WTAP Nonsynonymous SNV A248T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 158396 chr5 112903363 112903363 A G rs376412303 YTHDC2 Nonsynonymous SNV N721D 0.003 0 0 0 3 0 0 0 0 0 0 0 19.97 158397 chr4 186379563 186379563 A G rs908850772 CCDC110 Synonymous SNV S689S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.539 158398 chr6 24797905 24797905 C T ARMH2 Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.4 158399 chr6 24454357 24454357 G A rs150699523 GPLD1 Synonymous SNV R407R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.872 158400 chr19 17393805 17393805 C T ANKLE1 Nonsynonymous SNV P141S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 158401 chr6 26458867 26458867 G A rs142203065 BTN2A1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 158402 chr6 167411322 167411322 T A rs370955537 MIR3939 0 0 0.007 0 0 0 0 2 0 0 0 0 3.046 158403 chr16 20981303 20981303 C G rs34223805 DNAH3 Nonsynonymous SNV E2711Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.8 158404 chr6 168069808 168069808 T C LINC02538 0 0 0.003 0 0 0 0 1 0 0 0 0 0.874 158405 chr9 133470945 133470945 G A rs200486785 FUBP3 Nonsynonymous SNV G54R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 158406 chr6 28200740 28200740 G A rs141585458 ZSCAN9 Synonymous SNV A323A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.51 158407 chr6 170563540 170563540 G A rs41269621 LOC154449 0 0 0.017 0 0 0 0 5 0 0 0 0 3.869 158408 chr6 26502036 26502036 G A rs141076782 BTN1A1 Nonsynonymous SNV D100N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.62 158409 chr19 17767027 17767027 G T rs764955561 UNC13A Synonymous SNV R316R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.555 158410 chr6 33625735 33625735 A G rs142845743 ITPR3 Synonymous SNV Q103Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.803 158411 chr9 135201855 135201855 A G rs768582274 SETX Synonymous SNV Y1710Y 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 3.847 158412 chr9 135263575 135263575 - A rs745897488 TTF1 Frameshift insertion I240Yfs*16 0.003 0 0 1 4 0 0.003 0 0 0 0 0 158413 chr6 25081764 25081764 G A rs867789639 CMAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 1.392 158414 chr6 26027262 26027262 G A rs769477226 HIST1H4B Synonymous SNV Y73Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 158415 chr9 136501834 136501834 T C rs74853476 DBH 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Pathogenic 23 158416 chr19 19379449 19379449 G A rs758699207 TM6SF2 Nonsynonymous SNV T200I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.271 158417 chr19 19387804 19387804 C T rs200033194 SUGP1 Synonymous SNV A621A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.35 158418 chr6 2678507 2678507 G A rs766440227 MYLK4 Synonymous SNV D329D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 158419 chr19 20044733 20044733 G C rs765870925 ZNF93 Nonsynonymous SNV K323N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.09 158420 chr6 27277273 27277273 C T rs983693292 POM121L2 Nonsynonymous SNV G893R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 158421 chr6 34029800 34029800 C T rs144674222 GRM4 Nonsynonymous SNV V179M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 158422 chr4 39219645 39219645 C T rs373269235 WDR19 Nonsynonymous SNV R307W 0.002 0 0 0 2 0 0 0 0 0 0 0 27 158423 chr19 31039198 31039198 C A rs372534293 ZNF536 Nonsynonymous SNV P891H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.09 158424 chr9 139378927 139378927 T C rs367626587 C9orf163 Synonymous SNV P9P 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.024 158425 chr7 100815928 100815928 A G rs759555931 NAT16 Nonsynonymous SNV I181T 0 0.005 0 0 0 2 0 0 0 1 0 0 23.3 158426 chr6 36652129 36652129 G A rs34916193 CDKN1A Nonsynonymous SNV R84Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Likely benign 10.42 158427 chr6 26156954 26156954 C T rs762347118 H1-4 Synonymous SNV A112A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.379 158428 chr6 34008499 34008499 C T rs764101640 GRM4 Nonsynonymous SNV A283T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.515 158429 chr6 26252163 26252163 C A rs753701048 H2BC9 Synonymous SNV I95I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 158430 chr6 88173748 88173748 G A rs139574881 CFAP206 Nonsynonymous SNV R550H 0.003 0 0 0 3 0 0 0 0 0 0 0 13.68 158431 chr6 28195502 28195502 G A rs749870540 ZSCAN9 Nonsynonymous SNV C152Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.048 158432 chr19 35753510 35753510 C T rs141619202 LSR Synonymous SNV I260I 0.003 0.01 0.003 1 4 4 0.003 1 0 0 0 0 15.05 158433 chr6 90393701 90393701 A G LOC101929057 0.002 0 0 0 2 0 0 0 0 0 0 0 8.333 158434 chr6 36566641 36566641 C T SRSF3 Synonymous SNV C74C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 158435 chr6 36767820 36767820 T C CPNE5 Nonsynonymous SNV T71A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 158436 chr6 38997902 38997902 C T rs139810428 DNAH8 Nonsynonymous SNV L4403F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.6 158437 chr16 56976143 56976143 C T rs759049207 HERPUD1 Synonymous SNV N334N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.34 158438 chr19 37879775 37879775 G A rs200881565 ZNF527 Nonsynonymous SNV G275E 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.002 158439 chr7 100054424 100054424 C T rs776552865 C7orf61 Nonsynonymous SNV R191Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.831 158440 chr9 18721642 18721642 A G rs144658832 ADAMTSL1 Nonsynonymous SNV N662S 0.008 0 0 1 9 0 0.003 0 1 0 0 0 10.84 158441 chr16 58296426 58296426 - GTTCTCAATGCCTACAAAGTAAGGCCATCCCTGATACCCAGGGCTCCCCCAAGGCTTTCC CCDC113 K207_S208insVRPSLIPRAPPRLSVLNAYK 0 0 0.003 2 0 0 0.005 1 0 0 0 0 158442 chr6 46794162 46794162 A C rs755216966 MEP1A Synonymous SNV R284R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.442 158443 chr6 43305832 43305832 G C rs142925461 ZNF318 Synonymous SNV T1968T 0 0 0.007 0 0 0 0 2 0 0 0 0 1.033 158444 chr6 43618165 43618165 C T rs142194323 RSPH9 Nonsynonymous SNV A94V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.169 158445 chr6 43639572 43639572 C A rs138289141 MRPS18A Nonsynonymous SNV R173L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 158446 chr6 44140041 44140041 G T rs202080178 CAPN11 Nonsynonymous SNV D138Y 0 0 0.007 0 0 0 0 2 0 0 0 0 32 158447 chr16 67322413 67322413 C T rs145498856 PLEKHG4 Nonsynonymous SNV S1078L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.4 158448 chr6 39512431 39512431 T C rs143791545 KIF6 Synonymous SNV T442T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.008 158449 chr7 135358888 135358888 C T rs184644668 STMP1 Nonsynonymous SNV A40V 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 22.9 158450 chr7 135419059 135419059 C A FAM180A Synonymous SNV L62L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.68 158451 chr7 138555927 138555927 C T rs747104568 KIAA1549 Synonymous SNV A1509A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.96 158452 chr6 47674984 47674984 G A rs377029853 ADGRF4 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 19.46 158453 chr6 62887092 62887092 T C KHDRBS2 Nonsynonymous SNV K73E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 158454 chr6 49494453 49494453 C T rs540566539 GLYATL3 Synonymous SNV A231A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.63 158455 chr5 156915483 156915483 C T rs745765474 ADAM19 Synonymous SNV P780P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.49 158456 chr9 35563360 35563360 C T rs201290396 FAM166B Nonsynonymous SNV R30Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 158457 chr16 69377518 69377518 T C rs371778303 TMED6 Nonsynonymous SNV N172S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.047 158458 chr6 57013057 57013057 G T rs142125848 ZNF451 Nonsynonymous SNV R725L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.64 158459 chr6 42935188 42935188 C T rs34324426 PEX6 Nonsynonymous SNV R601Q 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 158460 chr19 44056400 44056400 G A rs146168662 XRCC1 Nonsynonymous SNV T284I 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 4.035 158461 chr6 65301652 65301652 G A EYS Nonsynonymous SNV H1370Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 158462 chr9 38395982 38395982 C T rs754713886 ALDH1B1 Synonymous SNV A79A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.096 158463 chr9 5922870 5922870 A G rs369470542 KIAA2026 Synonymous SNV P1042P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.011 158464 chr6 7862669 7862669 G A rs200811682 BMP6 Nonsynonymous SNV R381Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 158465 chr6 78632919 78632919 T G rs9343695 MEI4 Nonsynonymous SNV H338Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.43 158466 chr6 80223063 80223063 G A rs114426854 LCA5 Synonymous SNV L196L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.541 158467 chr19 45790737 45790737 C T rs752141498 MARK4 Nonsynonymous SNV R437C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 158468 chr19 45790742 45790742 C T MARK4 Synonymous SNV S438S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.53 158469 chr19 46027878 46027878 C A rs754699666 VASP Nonsynonymous SNV P336H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.84 158470 chr16 84163650 84163650 T C HSDL1 Nonsynonymous SNV I203V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.823 158471 chr9 84249031 84249031 G A rs149612113 TLE1 Synonymous SNV H196H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.072 158472 chr19 47503820 47503820 G A rs376344986 ARHGAP35 Nonsynonymous SNV V1459I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 158473 chr6 96052766 96052766 T C MANEA Nonsynonymous SNV Y240H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 158474 chr19 47935500 47935500 G A rs746587243 SLC8A2 Synonymous SNV S771S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.82 158475 chr5 31995732 31995732 G A rs369445931 PDZD2 Synonymous SNV G343G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 11.13 158476 chr5 32072385 32072385 G C rs375684258 PDZD2 Nonsynonymous SNV S896T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24 158477 chr19 48543969 48543969 C T rs111484042 CABP5 Nonsynonymous SNV R44Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 158478 chr7 100550952 100550952 C T rs74474298 MUC3A Synonymous SNV T511T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.827 158479 chr19 48973725 48973725 C T rs147667770 CYTH2 Synonymous SNV S45S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.39 158480 chr19 49107060 49107060 G A rs75363654 FAM83E Synonymous SNV C289C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.493 158481 chr5 115177103 115177103 G T rs201976289 ATG12 Synonymous SNV G49G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.1 158482 chr19 49206159 49206159 C T rs191543388 LOC105447645 0 0 0 1 0 0 0.003 0 0 0 0 0 3.994 158483 chr5 40852777 40852777 C - CARD6 T448Ifs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 158484 chr6 90422974 90422974 T A MDN1 Nonsynonymous SNV I2371L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 0.067 158485 chr5 123983505 123983505 G T rs148932478 ZNF608 Nonsynonymous SNV L858I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.72 158486 chr6 90576151 90576151 C T CASP8AP2 Nonsynonymous SNV H1048Y 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 11.9 158487 chr5 125816336 125816336 C T GRAMD2B Synonymous SNV N120N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 158488 chr5 126161761 126161761 G A rs747836126 LMNB1 Nonsynonymous SNV E315K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 158489 chr5 127607692 127607692 G T FBN2 Synonymous SNV V2653V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.344 158490 chr5 43139279 43139279 T A ZNF131 Star tloss M80K 0.003 0 0 0 3 0 0 0 0 0 0 0 21.6 158491 chr7 141920185 141920185 C T rs570828834 MGAM2 Synonymous SNV P1958P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.96 158492 chr19 51051874 51051874 C T rs756139309 LRRC4B Synonymous SNV R74R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.37 158493 chr7 105204348 105204348 G A rs201581045 RINT1 Nonsynonymous SNV V273I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.4 158494 chr5 65460639 65460639 C T SREK1 Synonymous SNV G305G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 158495 chr7 102112914 102112914 C T rs184787600 LRWD1 Synonymous SNV S364S 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 16.25 158496 chr7 107414544 107414544 T C rs756998584 SLC26A3 Nonsynonymous SNV N610D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 158497 chr5 140515139 140515139 T C rs138582871 PCDHB5 Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.101 158498 chr19 53086379 53086383 GTAAG - rs535558805 ZNF701 K357Lfs*2 0 0.003 0 1 0 1 0.003 0 0 0 0 0 158499 chr7 151078476 151078476 G A rs533432620 WDR86 Nonsynonymous SNV S268L 0.004 0 0 0 5 0 0 0 0 0 0 0 6.537 158500 chr5 14369565 14369565 A T rs200954380 TRIO Nonsynonymous SNV N1050I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 158501 chr7 12617756 12617756 G T SCIN Nonsynonymous SNV L89F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 158502 chr19 53855760 53855760 G A rs755918488 ZNF845 Nonsynonymous SNV R611K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.19 158503 chr19 54312861 54312861 C T rs755768331 NLRP12 Synonymous SNV A684A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.12 158504 chr19 54603056 54603056 G A rs774941662 OSCAR Nonsynonymous SNV T18I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.42 158505 chr7 131866332 131866332 G A PLXNA4 Synonymous SNV A1100A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 158506 chr7 21469522 21469522 C A rs775496412 SP4 Nonsynonymous SNV P230T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.737 158507 chr7 138482857 138482857 G A rs138299222 TMEM213 Nonsynonymous SNV R3H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.176 158508 chrX 7066112 7066112 T C rs374016250 PUDP Nonsynonymous SNV M15V 0.009 0 0 0 10 0 0 0 2 0 0 0 18.21 158509 chr5 149901097 149901097 C T NDST1 Nonsynonymous SNV S94L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 158510 chr7 70853342 70853342 C T GALNT17 Nonsynonymous SNV H182Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 158511 chrX 71495461 71495461 G A rs375124298 RPS4X Synonymous SNV C65C 0.004 0 0 2 5 0 0.005 0 0 0 0 1 11.11 158512 chr7 73150934 73150934 G A rs138932141 ABHD11 Synonymous SNV D244D 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 1.115 158513 chr5 150639360 150639360 G A rs113271740 GM2A Synonymous SNV G42G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.889 158514 chrX 99919947 99919947 - T SRPX2 Frameshift insertion D178Vfs*14 0.005 0.005 0 0 6 2 0 0 1 1 0 0 158515 chr7 143077477 143077477 C T rs558254910 LOC100507507 0.009 0 0 4 10 0 0.01 0 0 0 0 0 10.42 158516 chr7 129093991 129093991 A G rs372397517 STRIP2 Nonsynonymous SNV Q180R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 158517 chr6 107050773 107050773 G A rs111435523 RTN4IP1 Synonymous SNV G115G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.868 158518 chr5 157181864 157181864 A G rs370509120 LSM11 Synonymous SNV L225L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.753 158519 chr1 1231396 1231396 G A rs369571322 ACAP3 Nonsynonymous SNV R501W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 158520 chr7 143826344 143826344 A T rs199578525 OR2A14 Nonsynonymous SNV I47F 0.002 0 0 0 2 0 0 0 0 0 0 0 4.441 158521 chr7 150095183 150095183 G A ZNF775 Synonymous SNV X538X 0 0 0.003 0 0 0 0 1 0 0 0 0 3.367 158522 chr7 1484457 1484457 G A rs61736381 MICALL2 Nonsynonymous SNV R417W 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 27.3 158523 chr1 2409971 2409971 G A rs757780340 PLCH2 Nonsynonymous SNV G34S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.432 158524 chr1 2518706 2518706 G A rs780215502 PRXL2B Synonymous SNV E80E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.581 158525 chr7 36194539 36194539 C G rs144236439 EEPD1 Synonymous SNV P202P 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 9.328 158526 chr7 150171544 150171544 C T rs140725618 GIMAP8 Nonsynonymous SNV T376M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 158527 chr7 150068550 150068550 C T rs751130314 REPIN1 Nonsynonymous SNV L74F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 158528 chr19 57910651 57910651 C T rs199963345 ZNF548 Synonymous SNV T332T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.52 158529 chr5 176318408 176318408 C A rs779216728 HK3 Synonymous SNV G80G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.533 158530 chr6 119501069 119501069 A G rs920745580 MAN1A1 Nonsynonymous SNV L626P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.5 158531 chr19 58452693 58452693 C T rs79816202 ZNF256 Nonsynonymous SNV E495K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 158532 chr7 43917152 43917152 G A rs1034904812 URGCP Nonsynonymous SNV P628L 0.003 0 0 0 3 0 0 0 0 0 0 0 17.15 158533 chr5 178455114 178455114 A G rs146216019 ZNF879 Nonsynonymous SNV Q81R 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 0.004 158534 chr7 17362157 17362157 G A rs766592204 AHR Nonsynonymous SNV G96R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.1 158535 chr7 143701562 143701562 C T rs374206359 OR6B1 Nonsynonymous SNV A158V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 158536 chr8 11177280 11177280 C T MTMR9 Synonymous SNV P473P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.27 158537 chr7 148963937 148963937 G A rs199966456 ZNF783 Nonsynonymous SNV V150M 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 26.2 158538 chr7 24784338 24784338 T C rs777453610 GSDME Nonsynonymous SNV K83E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 23.4 158539 chr20 1559233 1559233 C A rs41275424 SIRPB1 Nonsynonymous SNV V62L 0.005 0 0.003 2 6 0 0.005 1 1 0 0 0 12.54 158540 chr7 16734503 16734503 A G rs759926506 BZW2 Synonymous SNV K38K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.911 158541 chr7 193399 193399 C A rs538469200 FAM20C Nonsynonymous SNV P67H 0.008 0.005 0 0 9 2 0 0 0 0 0 0 Likely benign 23.2 158542 chr7 27209185 27209185 T A rs117827196 HOXA10-AS 0 0 0.051 0 0 0 0 15 0 0 0 0 18.76 158543 chr6 13618007 13618007 A G rs563589049 NOL7 Nonsynonymous SNV K131R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 158544 chr7 2748758 2748758 G A rs59438885 AMZ1 Synonymous SNV S217S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.717 158545 chr7 19184881 19184881 G A rs763583427 FERD3L Synonymous SNV P35P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.36 158546 chr5 32087668 32087668 A C rs906700967 PDZD2 Nonsynonymous SNV S1372R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.502 158547 chr7 2969649 2969649 T G rs147687933 CARD11 Nonsynonymous SNV I544L 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Likely benign 0.277 158548 chr6 1390381 1390381 A T rs773094257 FOXF2 Nonsynonymous SNV S67C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.05 158549 chr20 3147561 3147561 C T rs139668892 LZTS3 Synonymous SNV P83P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.15 158550 chr7 35414719 35414719 C T rs147559246 LOC401324 0 0 0.007 0 0 0 0 2 0 0 0 0 14.41 158551 chr7 2578140 2578140 C T rs141726264 BRAT1 Nonsynonymous SNV V502M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 158552 chr7 2419120 2419120 G A EIF3B Synonymous SNV G811G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.243 158553 chr7 26192217 26192217 - CTG rs562537498 NFE2L3 L36_P37insL 0.003 0.003 0 2 4 1 0.005 0 1 0 0 0 158554 chr20 5163069 5163069 A G CDS2 Nonsynonymous SNV H189R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.11 158555 chr1 17349205 17349205 G A SDHB Synonymous SNV D221D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 158556 chr7 56145863 56145863 C T rs188288810 SUMF2 Nonsynonymous SNV P4L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.52 158557 chr7 26678910 26678910 C T rs111516571 LINC02860 0.006 0 0.01 1 7 0 0.003 3 0 0 1 0 9.13 158558 chr7 26678926 26678926 G A rs78653055 LINC02860 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.61 158559 chr7 6077070 6077070 C T EIF2AK1 Synonymous SNV V438V 0.004 0 0 0 5 0 0 0 0 0 0 0 13.72 158560 chr7 30795119 30795119 G A rs34640571 INMT Synonymous SNV P147P 0.003 0 0 4 4 0 0.01 0 0 0 0 1 9.828 158561 chr6 152784621 152784621 T C rs9397509 SYNE1 Nonsynonymous SNV Q662R 0.004 0 0.01 3 5 0 0.008 3 0 0 0 0 Benign/Likely benign 24.3 158562 chr7 76054336 76054336 C A rs760414285 ZP3 Nonsynonymous SNV L19M 0.003 0 0 0 3 0 0 0 0 0 0 0 13.89 158563 chr7 76062912 76062912 C G rs777796401 ZP3 Nonsynonymous SNV P221A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.202 158564 chr7 3341390 3341390 T C rs10228086 SDK1 Nonsynonymous SNV S58P 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 158565 chr6 159197483 159197483 T C rs139467617 EZR Nonsynonymous SNV N251S 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 16.45 158566 chr7 87069035 87069035 G A rs185760690 ABCB4 Nonsynonymous SNV T560M 0.003 0 0 0 3 0 0 0 0 0 0 0 32 158567 chr20 31828065 31828065 G A rs755793160 BPIFA1 Nonsynonymous SNV R152K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.013 158568 chr7 44152711 44152711 G T AEBP1 Synonymous SNV L897L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.807 158569 chr20 33872123 33872123 G A rs1034431579 EIF6 Synonymous SNV S56S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.595 158570 chr7 55273306 55273306 C T rs35918369 EGFR Nonsynonymous SNV A943V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 158571 chr20 35521419 35521419 G A rs35102927 SAMHD1 Synonymous SNV N564N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 3.705 158572 chr8 144940802 144940802 G A rs183595356 EPPK1 Nonsynonymous SNV T2207M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.15 158573 chr6 16129590 16129590 - TGGAGG MYLIP E18_A19insVE 0.001 0 0 0 1 0 0 0 0 0 0 0 158574 chr6 166743667 166743667 G A rs146041790 SFT2D1 Synonymous SNV G44G 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 16.11 158575 chr20 36979250 36979250 G A rs5744203 LBP Synonymous SNV A92A 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Likely benign 1.702 158576 chr8 144992037 144992037 C T rs371941789 PLEC Synonymous SNV K3970K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 5.479 158577 chr8 144998654 144998654 G A rs398123400 PLEC Nonsynonymous SNV R1801W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 24.3 158578 chr7 48315846 48315846 C A rs754633474 ABCA13 Nonsynonymous SNV L2195M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 158579 chr7 92146752 92146752 C T rs138905930 PEX1 Synonymous SNV K359K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 13.15 158580 chr7 36320808 36320808 G A rs1019797143 EEPD1 Nonsynonymous SNV E339K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 158581 chr7 4841505 4841505 - C RADIL Frameshift insertion A874Gfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 158582 chr7 6554135 6554135 C T rs908596345 GRID2IP Nonsynonymous SNV V432I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 158583 chr20 42264628 42264628 C T rs140986312 IFT52 Nonsynonymous SNV T329M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 158584 chr7 98592335 98592335 G A rs56282945 TRRAP Synonymous SNV T3348T 0.004 0 0 0 5 0 0 0 0 0 0 0 13.44 158585 chr5 74886170 74886170 A G rs779292513 POLK Nonsynonymous SNV T355A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 158586 chr5 74921722 74921722 G A rs149209328 ANKDD1B Nonsynonymous SNV R181H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.477 158587 chr8 145641442 145641442 C T SLC39A4 Nonsynonymous SNV E51K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.761 158588 chr1 26800619 26800619 C T HMGN2 Nonsynonymous SNV P45L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 158589 chr1 27426952 27426952 C T rs764986883 SLC9A1 Nonsynonymous SNV R765Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 158590 chr8 145689922 145689922 C T CYHR1 Nonsynonymous SNV S56N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.875 158591 chr7 75517543 75517543 C T rs148559308 RHBDD2 Nonsynonymous SNV A188V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.859 158592 chr7 75615112 75615112 C T rs781794995 POR Synonymous SNV T538T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.81 158593 chr1 29475225 29475225 C T rs767338087 SRSF4 Synonymous SNV K394K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.55 158594 chr8 107670330 107670330 A G rs990305563 OXR1 Nonsynonymous SNV Y39C 0.003 0 0 0 3 0 0 0 0 0 0 0 18.71 158595 chr8 19171325 19171325 C T SH2D4A Nonsynonymous SNV P13S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 12.62 158596 chr20 48522655 48522655 G T SPATA2 Nonsynonymous SNV P355Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.9 158597 chr20 48600475 48600475 C T rs34261470 SNAI1 Nonsynonymous SNV A66V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 21.3 158598 chr20 49195731 49195731 C T rs748354118 PTPN1 Synonymous SNV S170S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.94 158599 chr5 89969880 89969880 A G rs72782753 ADGRV1 Nonsynonymous SNV I1647V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.028 158600 chr20 49214218 49214218 C T rs76862921 RIPOR3 Synonymous SNV S563S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.29 158601 chr7 48288836 48288836 A G rs373432451 ABCA13 Synonymous SNV Q631Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 158602 chr6 27218468 27218468 T C rs776392050 PRSS16 Synonymous SNV A158A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.943 158603 chr7 66410144 66410144 T C rs770056097 TMEM248 Nonsynonymous SNV V114A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 158604 chr8 22005885 22005885 G A rs149918878 LGI3 Nonsynonymous SNV R479C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 32 158605 chr5 93998050 93998050 C T rs183227030 SLF1 Synonymous SNV N401N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.61 158606 chr20 55940426 55940426 G A rs6099582 RAE1 Synonymous SNV V101V 0.006 0.013 0.017 4 7 5 0.01 5 0 1 0 0 1.815 158607 chr7 97822603 97822603 A C rs199639482 LMTK2 Nonsynonymous SNV K942N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.52 158608 chr8 22960981 22960981 A G LOC254896 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 158609 chr17 53392602 53392602 G T rs375544785 HLF Nonsynonymous SNV A71S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.99 158610 chr5 99871470 99871470 C A rs369657992 FAM174A Nonsynonymous SNV S79Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 158611 chr5 99871601 99871601 C G rs773432657 FAM174A Nonsynonymous SNV R123G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 158612 chr8 133036941 133036941 G A rs201179013 OC90 Synonymous SNV N407N 0.003 0 0 0 4 0 0 0 0 0 0 0 6.839 158613 chr7 6476026 6476026 A C rs780996250 DAGLB Nonsynonymous SNV V129G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 158614 chr7 6631317 6631317 T C rs766291186 C7orf26 Nonsynonymous SNV M78T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 158615 chr8 27401277 27401277 G A rs145061702 EPHX2 Synonymous SNV P421P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.08 158616 chr8 105361028 105361028 T - rs766538166 DCSTAMP V85Sfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 158617 chr1 45270011 45270011 C T rs138312429 PLK3 Nonsynonymous SNV A448V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 158618 chr17 57262838 57262838 G A rs147169945 PRR11 Nonsynonymous SNV R106H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.1 158619 chr1 45469409 45469409 G A rs377140982 HECTD3 Synonymous SNV Y811Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.425 158620 chr20 61637687 61637687 T C rs759204068 BHLHE23 Nonsynonymous SNV H147R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 158621 chr8 11637369 11637369 G C NEIL2 Nonsynonymous SNV S73T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 158622 chr8 11637432 11637432 G A rs563813073 NEIL2 Nonsynonymous SNV R94K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 158623 chr8 11643507 11643507 G A NEIL2 Nonsynonymous SNV G181R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.449 158624 chr8 120116082 120116082 A G rs34834488 COLEC10 Synonymous SNV Q130Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.086 158625 chr1 47013431 47013431 G A rs61735709 KNCN Nonsynonymous SNV P93S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 158626 chr7 766817 766817 G C rs929116538 DNAAF5 Nonsynonymous SNV D154H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.329 158627 chr8 10480477 10480477 G A rs377269054 RP1L1 Nonsynonymous SNV R79C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 33 158628 chr20 62737512 62737512 C T rs75874947 NPBWR2 Nonsynonymous SNV V225M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 158629 chr8 113529423 113529423 C A rs146986923 CSMD3 Synonymous SNV G1402G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 158630 chr17 66915567 66915567 T C ABCA8 Nonsynonymous SNV N555D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.644 158631 chr7 91503493 91503493 G A rs769997868 MTERF1 Synonymous SNV S185S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.822 158632 chr8 131792656 131792656 C T rs775562104 ADCY8 Nonsynonymous SNV D1246N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 158633 chr7 91871373 91871373 C T rs34358665 KRIT1 Nonsynonymous SNV R26Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 158634 chr6 132190541 132190541 A G rs9483347 ENPP1 Synonymous SNV K439K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.257 158635 chr6 132203490 132203490 T C rs7750837 ENPP1 Synonymous SNV S702S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.707 158636 chr8 67955540 67955540 G C rs764748063 COPS5 Synonymous SNV T311T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.923 158637 chr8 130764365 130764365 G A rs115758556 GSDMC Synonymous SNV S291S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.992 158638 chr8 103251048 103251048 C T RRM2B Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 9.804 158639 chr6 137519238 137519238 A G rs1887415 IFNGR1 Nonsynonymous SNV L467P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 11.34 158640 chr1 66838076 66838076 C T rs79722858 PDE4B Synonymous SNV L470L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 13.22 158641 chr8 144406275 144406275 C T TOP1MT Nonsynonymous SNV R187H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 158642 chr8 8748284 8748284 G A rs761537037 MFHAS1 Nonsynonymous SNV A762V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.007 158643 chr8 144654800 144654800 G A MROH6 Nonsynonymous SNV R29W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 158644 chr6 146262885 146262885 A T SHPRH Nonsynonymous SNV N788K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 158645 chr8 144671194 144671194 C T rs145843229 EEF1D Nonsynonymous SNV R353Q 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 10.4 158646 chr8 145755974 145755974 C T rs372035653 ARHGAP39 Synonymous SNV A1028A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.3 158647 chr6 56485496 56485496 C G rs34767818 DST Nonsynonymous SNV E1112D 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.15 158648 chr8 141889713 141889713 G A PTK2 Synonymous SNV D73D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 3.332 158649 chr8 142199128 142199128 C T rs144442267 DENND3 Nonsynonymous SNV S1043L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 158650 chr8 144822092 144822092 C T rs149608943 FAM83H-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 10.05 158651 chr1 78458485 78458485 A G DNAJB4 Nonsynonymous SNV Y9C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.845 158652 chr8 144990510 144990510 C T rs781929758 PLEC Synonymous SNV S4479S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.693 158653 chr8 144997671 144997671 G A rs200062782 PLEC Synonymous SNV A2128A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.146 158654 chr8 144688830 144688830 C T rs145277771 PYCR3 Nonsynonymous SNV R119Q 0.007 0 0.003 0 8 0 0 1 0 0 0 0 24.5 158655 chr8 144696389 144696389 G A rs141236351 TSTA3 Nonsynonymous SNV S209L 0.006 0 0.003 0 7 0 0 1 0 0 0 0 22.1 158656 chr6 75833687 75833687 C T rs77094372 COL12A1 Nonsynonymous SNV G1119E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 25.3 158657 chr6 75969187 75969187 G A rs144512821 TMEM30A Synonymous SNV L151L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.481 158658 chr8 139845361 139845361 C T COL22A1 Nonsynonymous SNV E256K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 158659 chr21 46066461 46066461 C T rs782557322 KRTAP10-11 Nonsynonymous SNV P29L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 158660 chr6 79752596 79752596 A G rs35686657 PHIP Synonymous SNV C188C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.273 158661 chr6 83667133 83667133 G T rs145788762 UBE3D Nonsynonymous SNV H162Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 158662 chr6 83938603 83938603 A G rs2230903 ME1 Synonymous SNV H358H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.39 158663 chr8 144992378 144992378 C T rs201419047 PLEC Nonsynonymous SNV G3857S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 24.3 158664 chr9 111812925 111812925 C G rs201913195 TMEM245 Synonymous SNV L634L 0.006 0.021 0 3 7 8 0.008 0 0 0 0 0 6.909 158665 chr21 47611798 47611798 C T rs774062012 LSS Synonymous SNV P608P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.47 158666 chr6 89864568 89864568 A G PM20D2 Nonsynonymous SNV T287A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 158667 chr6 89927038 89927038 A G rs375028634 GABRR1 Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 158668 chr8 145109753 145109753 C T rs11777194 OPLAH Nonsynonymous SNV G825R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Uncertain significance 34 158669 chr8 27516789 27516789 G A rs746562855 SCARA3 Nonsynonymous SNV D368N 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 24.3 158670 chr8 27678210 27678210 T C rs763861092 PBK Nonsynonymous SNV Y156C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 27.2 158671 chr7 100033786 100033786 C T rs770591555 PPP1R35 Nonsynonymous SNV G71D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.59 158672 chr1 109359780 109359780 T C rs758957023 AKNAD1 Nonsynonymous SNV M757V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 158673 chr22 19967567 19967567 G A rs61736862 ARVCF Synonymous SNV A365A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 12.16 158674 chr22 20920814 20920822 CAGCAGCAG - rs753419996 MED15 Q189_Q191del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 158675 chr8 24772269 24772269 G A rs201232572 NEFM Synonymous SNV R321R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.79 158676 chr6 168377271 168377271 G A rs61740140 HGC6.3 Nonsynonymous SNV S21F 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 3.994 158677 chr8 25325839 25325839 G T CDCA2 Synonymous SNV T200T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.799 158678 chr8 27399031 27399031 A C rs202158116 EPHX2 Nonsynonymous SNV K408T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.025 158679 chr6 17637566 17637566 G C rs144688186 NUP153 Nonsynonymous SNV T719R 0.011 0 0.003 2 13 0 0.005 1 1 0 0 0 16.49 158680 chr22 24530346 24530346 G T rs143327637 CABIN1 Synonymous SNV G1520G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.28 158681 chr8 18730045 18730045 C G rs369939885 PSD3 Nonsynonymous SNV G77A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.1 158682 chr8 30989992 30989992 T G rs147802438 WRN Nonsynonymous SNV I979M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 158683 chr6 24698223 24698223 A G ACOT13 Nonsynonymous SNV D65G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 158684 chr8 328513 328513 C T rs149156347 FAM87A 0 0 0.02 0 0 0 0 6 0 0 0 0 1.922 158685 chr8 33246562 33246562 G A rs16880851 FUT10 Synonymous SNV D377D 0 0 0.01 0 0 0 0 3 0 0 0 0 7.045 158686 chr8 36692370 36692370 A G KCNU1 Nonsynonymous SNV I427V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.35 158687 chr8 36694394 36694394 C T rs77438672 KCNU1 Synonymous SNV I483I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.78 158688 chr22 29445369 29445369 C T ZNRF3 Synonymous SNV D400D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.024 158689 chr8 21977361 21977361 G T HR Stop gain C963X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.5 158690 chr8 21980329 21980329 A G HR Nonsynonymous SNV M660T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.772 158691 chr22 29913278 29913278 C T rs35832657 THOC5 Nonsynonymous SNV V523M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 21.1 158692 chr18 9255785 9255785 C G rs139555890 ANKRD12 Synonymous SNV T817T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.034 158693 chr1 118535111 118535111 A G SPAG17 Nonsynonymous SNV L1780P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 158694 chr8 39505989 39505989 A C ADAM18 Synonymous SNV P367P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 158695 chr8 51449330 51449330 G C rs746700096 SNTG1 Synonymous SNV S214S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.543 158696 chr8 73921272 73921272 G A rs759792293 TERF1 Nonsynonymous SNV V51M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.011 158697 chr8 23292973 23292973 C G rs143860868 ENTPD4 Nonsynonymous SNV K456N 0.006 0 0 2 7 0 0.005 0 0 0 0 0 27.1 158698 chr22 31836014 31836014 A G EIF4ENIF1 Nonsynonymous SNV M763T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.501 158699 chr8 26721905 26721905 G C ADRA1A Stop gain Y194X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 158700 chr8 87570530 87570530 A G rs143776065 CPNE3 Synonymous SNV A502A 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.933 158701 chr8 70533431 70533431 C T rs147223148 SULF1 Synonymous SNV A513A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 158702 chr7 100839529 100839529 G A rs111262172 MOGAT3 Synonymous SNV R270R 0.005 0.013 0.01 0 6 5 0 3 0 0 0 0 7.148 158703 chr8 2815318 2815318 C T rs148647263 CSMD1 Synonymous SNV T3238T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 16.05 158704 chr8 73157131 73157131 C T rs17824282 LOC392232 0 0 0.068 0 0 0 0 20 0 0 0 0 2.704 158705 chr6 33631519 33631519 C T rs200701659 ITPR3 Nonsynonymous SNV A337V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 11.71 158706 chr22 38074614 38074614 G A rs139136100 LGALS1 Nonsynonymous SNV E72K 0 0 0 1 0 0 0.003 0 0 0 0 0 35 158707 chr6 33657157 33657157 G A rs200529026 ITPR3 Synonymous SNV G2279G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.73 158708 chr8 30705011 30705011 T A rs199659098 TEX15 Nonsynonymous SNV H891L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.89 158709 chr8 99033497 99033497 C T rs1034725312 MATN2 Synonymous SNV S587S 0.003 0 0 0 4 0 0 0 0 0 0 0 9.793 158710 chr8 99105477 99105477 C T rs199649349 ERICH5 Synonymous SNV D29D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.9 158711 chr22 38478666 38478666 C G rs77968014 SLC16A8 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 158712 chr9 134367612 134367612 T G rs774168307 PRRC2B Synonymous SNV P2146P 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 1.719 158713 chr7 110764515 110764515 T C rs375640347 LRRN3 Nonsynonymous SNV S563P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 158714 chr22 40417462 40417462 C T rs780334805 FAM83F Synonymous SNV S316S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 158715 chr8 38006160 38006160 G A rs142910480 STAR Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.251 158716 chr7 114619728 114619728 - A rs562142736 MDFIC Frameshift insertion M131Nfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 158717 chr22 41980579 41980579 G A rs376284083 PMM1 Synonymous SNV A78A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.71 158718 chr6 40360273 40360273 C T rs368616967 LRFN2 Synonymous SNV G593G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.403 158719 chr8 55540635 55540635 C G rs769270937 RP1 Nonsynonymous SNV S1398C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.94 158720 chr8 37797467 37797467 A C GOT1L1 Nonsynonymous SNV D27E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 158721 chr18 56056382 56056382 C T rs141136641 NEDD4L Synonymous SNV N730N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 17.37 158722 chr9 104238903 104238903 G C rs769273708 TMEM246 Nonsynonymous SNV L158V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 158723 chr9 109701222 109701222 - TGCTCA rs774978912 ZNF462 S1224_F1225insCS 0.002 0 0 0 2 0 0 0 0 0 0 0 158724 chr8 65494021 65494023 GCA - rs779312881 BHLHE22 S234del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 158725 chr8 6793547 6793547 C T rs201104526 DEFA4 Nonsynonymous SNV D97N 0.002 0 0 0 2 0 0 0 0 0 0 0 24 158726 chr6 43020084 43020084 G C rs777504656 CUL7 Nonsynonymous SNV A200G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 158727 chr6 43023899 43023899 C T rs751522499 MRPL2 Nonsynonymous SNV R147Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 158728 chr1 157739822 157739822 G A FCRL2 Synonymous SNV F143F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.101 158729 chr8 70981904 70981904 G A rs769291377 PRDM14 Synonymous SNV P64P 0.007 0.008 0 0 8 3 0 0 0 0 0 0 9.321 158730 chr7 132070014 132070014 G A rs183271681 PLXNA4 Nonsynonymous SNV T471M 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 2.149 158731 chr9 139639667 139639667 G C rs758198931 LCN6 Nonsynonymous SNV Q123E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.9 158732 chr9 139699123 139699123 C T rs773905783 CCDC183-AS1 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 4.907 158733 chr22 45959042 45959042 G A rs376936876 FBLN1 Nonsynonymous SNV E650K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 158734 chr22 48972321 48972321 T C rs202051146 TAFA5 Nonsynonymous SNV L10P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 158735 chr7 136699788 136699788 A G CHRM2 Nonsynonymous SNV N59S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 158736 chr9 116029715 116029715 C T rs377323426 CDC26 Nonsynonymous SNV R29H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 158737 chr8 69243661 69243661 C G C8orf34-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 15.6 158738 chr7 138968397 138968397 G A rs200218682 UBN2 Nonsynonymous SNV E916K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.2 158739 chr1 161476380 161476380 C T rs151051324 FCGR2A Synonymous SNV S121S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.569 158740 chr8 96166962 96166962 A T rs201168431 PLEKHF2 Synonymous SNV S230S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 158741 chr22 50894771 50894771 G C SBF1 Nonsynonymous SNV F1355L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 158742 chr8 71041003 71041003 C T rs376018531 NCOA2 Synonymous SNV T1110T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.35 158743 chr9 123731355 123731355 T C rs142459293 C5 Nonsynonymous SNV I1408V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12.23 158744 chrX 2774609 2774609 G A rs17090628 GYG2 Synonymous SNV P31P 0.003 0 0.014 1 3 0 0.003 4 0 0 2 0 Benign 9.341 158745 chrX 2833720 2833720 G A rs146636025 ARSD Nonsynonymous SNV P293S 0 0 0 1 0 0 0.003 0 0 0 0 0 24 158746 chrX 2836041 2836041 A G rs67272620 ARSD Nonsynonymous SNV F223L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 158747 chr9 101542528 101542528 C T rs201670531 ANKS6 Synonymous SNV S437S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 158748 chrX 13337641 13337641 G A rs138056772 ATXN3L Nonsynonymous SNV A138V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.11 158749 chr6 56484103 56484103 C T rs199612891 DST Nonsynonymous SNV E1577K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 14.24 158750 chr7 1484617 1484617 G A rs977749100 MICALL2 Synonymous SNV A363A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 158751 chrX 14748434 14748434 C A rs368138282 GLRA2 Nonsynonymous SNV P396T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.66 158752 chr9 125681893 125681893 T G ZBTB26 Synonymous SNV A107A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.169 158753 chr9 125920698 125920698 A C rs765847060 STRBP Synonymous SNV G268G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.783 158754 chrX 21674914 21674914 C T rs150393164 KLHL34 Synonymous SNV E331E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.604 158755 chrX 24828914 24828914 C T rs143911626 POLA1 Synonymous SNV N1029N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 158756 chr9 34889374 34889374 G C FAM205C Nonsynonymous SNV A335G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.975 158757 chr8 95686718 95686718 G A rs369140603 ESRP1 Synonymous SNV P545P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12 158758 chr8 95738632 95738632 A G DPY19L4 Synonymous SNV K30K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.537 158759 chr9 113228248 113228248 T G SVEP1 Synonymous SNV P1073P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.425 158760 chr19 1219382 1219382 A G rs369764220 STK11 Nonsynonymous SNV E145G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 17.06 158761 chrX 49029754 49029754 T C rs199693204 PLP2 Nonsynonymous SNV I90T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 158762 chr9 104499886 104499886 C T rs141551240 GRIN3A Nonsynonymous SNV D126N 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 28.8 158763 chr9 131670850 131670850 G A rs751278959 LRRC8A Synonymous SNV T469T 0 0 0.01 0 0 0 0 3 0 0 0 0 3.319 158764 chrX 54263371 54263371 T C rs782798378 WNK3 Nonsynonymous SNV K1496R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 158765 chrX 54476707 54476707 G A rs144902747 FGD1 Synonymous SNV V681V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 3.511 158766 chr9 131774516 131774516 G A rs200547620 SH3GLB2 Nonsynonymous SNV A208V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.6 158767 chr9 6805718 6805718 C T rs754947762 KDM4C Synonymous SNV N88N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.32 158768 chr7 155532588 155532588 C T rs57645744 RBM33 Synonymous SNV H639H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 158769 chr9 712308 712308 G A KANK1 Synonymous SNV K356K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.828 158770 chr9 133805368 133805368 A G rs562398585 FIBCD1 Synonymous SNV A46A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 158771 chrX 72674389 72674389 A G CDX4 Nonsynonymous SNV I275V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 158772 chr9 75777740 75777740 C T rs544683457 ANXA1 Nonsynonymous SNV S173F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.7 158773 chr9 134103574 134103574 G T NUP214 Nonsynonymous SNV G803V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 158774 chr9 133907450 133907450 G A LAMC3 Nonsynonymous SNV E233K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 34 158775 chr9 134136327 134136327 T C FAM78A Nonsynonymous SNV K245R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.509 158776 chr7 1594951 1594951 C T TMEM184A Nonsynonymous SNV G57D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 158777 chr9 121971070 121971070 G A rs540545974 BRINP1 Nonsynonymous SNV R358C 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 33 158778 chr9 125004265 125004265 A T rs768623493 RBM18 Synonymous SNV P157P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 158779 chr9 115336871 115336871 G T rs146645773 KIAA1958 Nonsynonymous SNV A171S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.001 158780 chr9 135787701 135787701 G T rs878853969 TSC1 Nonsynonymous SNV T243N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.2 158781 chr7 23313186 23313186 T A rs772762462 GPNMB Synonymous SNV V504V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.524 158782 chrX 114426767 114426767 C T rs782310893 RBMXL3 Synonymous SNV P921P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.265 158783 chr7 25264778 25264778 - C rs775304039 NPVF Frameshift insertion K185Rfs*5 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 158784 chr7 25264780 25264785 GAATAG - rs768601361 NPVF L183_F184del 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 158785 chr1 201186569 201186569 G A rs148232154 IGFN1 Synonymous SNV V3250V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.01 158786 chr9 125637564 125637564 T C rs138283522 RC3H2 Nonsynonymous SNV K470R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.358 158787 chr9 125863872 125863872 C T rs761854128 RABGAP1 Nonsynonymous SNV R973W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 158788 chr9 139256499 139256499 C A rs778408054 DNLZ Nonsynonymous SNV G168C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 158789 chrX 128884473 128884473 G A rs61733030 XPNPEP2 Nonsynonymous SNV V223I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.002 158790 chr9 138646997 138646997 G A rs147551342 KCNT1 Nonsynonymous SNV M126I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 158791 chrX 133379292 133379292 G A rs371886469 CCDC160 Synonymous SNV L154L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.072 158792 chr9 99006638 99006638 T A rs115063639 HSD17B3 Nonsynonymous SNV E215D 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 21.1 158793 chr9 139635349 139635349 G A rs151074730 LCN10 Synonymous SNV Y125Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.815 158794 chr1 205133056 205133056 G C DSTYK Nonsynonymous SNV P451R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.69 158795 chr9 140093903 140093903 G A rs72763296 TPRN Nonsynonymous SNV P421S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.15 158796 chrX 151303632 151303632 G A rs758297801 MAGEA10 Nonsynonymous SNV P154L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.401 158797 chr9 140509487 140509487 C T rs747175743 ARRDC1 Synonymous SNV D424D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.795 158798 chr9 131860562 131860562 A G rs140551503 CRAT Nonsynonymous SNV F432L 0.002 0 0 0 2 0 0 0 0 0 0 0 32 158799 chrX 134711253 134711253 C A rs143243277 INTS6L Nonsynonymous SNV P637T 0 0.01 0 0 0 4 0 0 0 1 0 0 9.751 158800 chrX 153695925 153695925 G A rs375560348 PLXNA3 Nonsynonymous SNV R1160H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 158801 chr7 44104763 44104763 C T rs143830182 PGAM2 Synonymous SNV P122P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 10.43 158802 chrX 13651155 13651155 G A rs16979033 EGFL6 Nonsynonymous SNV D536N 0.002 0.01 0.003 0 2 4 0 1 1 1 0 0 29.4 158803 chr7 44157583 44157583 T C POLD2 Nonsynonymous SNV M101V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 158804 chr9 127765813 127765813 T C SCAI Nonsynonymous SNV M300V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 158805 chr7 108155021 108155021 A G PNPLA8 Synonymous SNV Y305Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 158806 chr7 45703938 45703938 G T ADCY1 Nonsynonymous SNV W327C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.168 158807 chr9 19116484 19116484 T C rs144179472 PLIN2 Nonsynonymous SNV N359S 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.001 158808 chr9 27183589 27183589 C T rs979217618 TEK Nonsynonymous SNV P241L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 158809 chr9 32634376 32634376 A G rs748942045 TAF1L Nonsynonymous SNV M401T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.365 158810 chr9 136201251 136201251 G C rs782072282 SURF6 Nonsynonymous SNV S94C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 158811 chr9 34306279 34306279 C T rs374365344 KIF24 Nonsynonymous SNV A262T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 32 158812 chr1 1922362 1922362 C T rs374626550 CFAP74 Nonsynonymous SNV E12K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.709 158813 chr9 35675823 35675823 C A rs762307874 CA9 Nonsynonymous SNV R167S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 158814 chr9 5185339 5185339 C A INSL6 Synonymous SNV P88P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 158815 chr9 6553417 6553417 G A GLDC Nonsynonymous SNV A803V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 158816 chr1 6649233 6649233 C T rs144835840 ZBTB48 Synonymous SNV L676L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.391 158817 chr9 139728309 139728309 G A rs145215909 RABL6 Synonymous SNV P281P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 158818 chr9 136221752 136221752 G A rs116779216 SURF1 Nonsynonymous SNV A56V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.517 158819 chr1 10459725 10459725 G C rs914015293 PGD Nonsynonymous SNV Q16H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 158820 chr9 136599138 136599138 G A rs137950387 SARDH Nonsynonymous SNV S53L 0.004 0 0 0 5 0 0 0 0 0 0 0 2.982 158821 chr7 140301909 140301909 T C rs200519436 DENND2A Nonsynonymous SNV N97D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 158822 chrUn_gl000220 118418 118423 CGCGCG - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.007 0 0 0 0 2 0 0 0 0 158823 chrUn_gl000220 122126 122126 C - LOC100507412 0 0 0.007 0 0 0 0 2 0 0 0 0 158824 chr9 2838474 2838474 T C PUM3 Nonsynonymous SNV K12E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 19.84 158825 chrX 124455706 124455706 C T rs762234438 TEX13C Nonsynonymous SNV P580S 0 0 0.007 0 0 0 0 2 0 0 1 0 3.303 158826 chrX 125954783 125954783 G A rs41300914 PRR32 Synonymous SNV P54P 0.006 0 0.007 1 7 0 0.003 2 2 0 1 0 7.998 158827 chrX 12937187 12937187 A G rs5744077 TLR8 Nonsynonymous SNV M10V 0.003 0 0.01 0 3 0 0 3 1 0 1 0 0.002 158828 chrX 12939946 12939946 C A rs5744084 TLR8 Synonymous SNV I929I 0.003 0 0.007 0 3 0 0 2 1 0 1 0 14.83 158829 chr7 149152746 149152746 T G rs538882557 ZNF777 Nonsynonymous SNV H123P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.37 158830 chrX 138643870 138643870 G A rs954954812 F9 Synonymous SNV T304T 0.003 0 0.007 0 4 0 0 2 1 0 1 0 Likely benign 10.27 158831 chr9 35663006 35663006 C T rs75513621 ARHGEF39 Nonsynonymous SNV D204N 0.006 0 0.007 4 7 0 0.01 2 0 0 0 0 22.7 158832 chr9 36118927 36118927 G A rs750695711 RECK Synonymous SNV S809S 0.003 0.008 0 4 4 3 0.01 0 0 0 0 0 7.542 158833 chrX 149639722 149639722 G A rs781998489 MAMLD1 Nonsynonymous SNV R601Q 0 0 0.007 0 0 0 0 2 0 0 1 0 22.5 158834 chr9 27220057 27220057 C G rs145261015 TEK Synonymous SNV P890P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 158835 chr9 37707431 37707431 T G FRMPD1 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.544 158836 chr9 140477516 140477516 G A rs140870796 ZMYND19 Synonymous SNV N153N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.64 158837 chrX 15408373 15408373 C T rs75378219 PIR Nonsynonymous SNV D232N 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 21.1 158838 chr9 71532547 71532547 G A rs61752951 PIP5K1B Synonymous SNV E285E 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 9.612 158839 chr1 11298606 11298606 G A rs199712134 MTOR Nonsynonymous SNV R619C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 158840 chr9 18770753 18770753 G A rs758527564 ADAMTSL1 Nonsynonymous SNV E791K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 158841 chr1 20975602 20975602 C T rs45539432 PINK1 Stop gain Q456X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 40 158842 chr7 18975468 18975468 C G rs763752280 HDAC9 Nonsynonymous SNV A903G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.5 158843 chr9 5968721 5968721 C A rs41314612 KIAA2026 Nonsynonymous SNV V504L 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 17.44 158844 chr9 32493768 32493768 T G rs200728665 DDX58 Nonsynonymous SNV E138D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.2 158845 chrX 69282752 69282752 C G rs763847463 OTUD6A Synonymous SNV R126R 0 0 0.007 0 0 0 0 2 0 0 1 0 6.675 158846 chr7 21813610 21813610 C T rs1033643824 DNAH11 Nonsynonymous SNV A3110V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 158847 chr9 8486265 8486265 C T rs143196383 PTPRD Nonsynonymous SNV G851E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 158848 chrX 71360171 71360171 C T rs368270177 NHSL2 Nonsynonymous SNV R925W 0 0 0.007 0 0 0 0 2 0 0 1 0 22.6 158849 chr9 35399670 35399670 C T rs753629976 UNC13B Nonsynonymous SNV R975W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 158850 chr9 75526974 75526974 T C ALDH1A1 Nonsynonymous SNV K367R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.1 158851 chrX 73066663 73066663 C T rs201937579 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 9.619 158852 chr9 79259770 79259770 C T rs199622523 PRUNE2 Synonymous SNV T135T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.19 158853 chr8 121528305 121528305 C G rs139028669 MTBP Nonsynonymous SNV S707C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.6 158854 chr9 96070677 96070677 G A rs115314798 WNK2 Synonymous SNV A2109A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.19 158855 chr9 96429388 96429388 G A rs79708182 PHF2 Synonymous SNV S738S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.072 158856 chr1 19471388 19471388 A G rs2274000 UBR4 Synonymous SNV I2653I 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 9.7 158857 chr10 101590526 101590526 G A rs200477714 ABCC2 Nonsynonymous SNV R934Q 0 0 0.01 0 0 0 0 3 0 0 0 0 7.224 158858 chrX 5811532 5811532 G A rs3747333 NLGN4X Nonsynonymous SNV L593F 0.006 0 0.007 0 7 0 0 2 3 0 0 0 Benign/Likely benign 22.7 158859 chr9 90342645 90342645 G A CTSL 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 158860 chr10 101716144 101716144 G A rs749048632 DNMBP Nonsynonymous SNV H363Y 0 0 0.01 0 0 0 0 3 0 0 0 0 17.76 158861 chr7 34125416 34125416 C T rs368522901 BMPER Nonsynonymous SNV A486V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 28.6 158862 chr1 22155909 22155909 C T rs755184935 HSPG2 Nonsynonymous SNV G3988S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 158863 chr10 104934659 104934659 C G rs762854961 NT5C2 Nonsynonymous SNV M19I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.7 158864 chrX 96139604 96139604 G A rs773544923 RPA4 Nonsynonymous SNV A99T 0.003 0 0 0 4 0 0 0 1 0 0 0 5.661 158865 chrX 130416977 130416977 T A rs149475767 IGSF1 Nonsynonymous SNV D301V 0.002 0 0 0 2 0 0 0 1 0 0 0 25.7 158866 chr10 105800154 105800154 C T rs575026913 COL17A1 Nonsynonymous SNV G906S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 158867 chr10 101295343 101295343 C T rs549773276 NKX2-3 Synonymous SNV A320A 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 17.73 158868 chr10 101590154 101590154 G A ABCC2 Nonsynonymous SNV R904K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.55 158869 chr10 106160613 106160613 G A rs546646161 CFAP58 Nonsynonymous SNV R664Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 158870 chr1 33612881 33612881 C T rs750420902 TRIM62 Nonsynonymous SNV R321H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 158871 chr1 33820146 33820146 C T rs142759750 PHC2 Nonsynonymous SNV D443N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.51 158872 chr10 106907398 106907398 C T rs147429425 SORCS3 Synonymous SNV D442D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.07 158873 chrX 135593337 135593337 G C rs2071913 HTATSF1 Nonsynonymous SNV G478A 0.002 0 0.007 0 2 0 0 2 1 0 1 0 0.003 158874 chr1 25254204 25254204 G A rs114583699 RUNX3 Synonymous SNV D100D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.72 158875 chr1 25573107 25573107 - CGGGAC rs747562675 RSRP1 R122_G123insSR 0.003 0 0 1 4 0 0.003 0 0 0 0 0 158876 chr10 102778850 102778850 G C rs1031596605 PDZD7 Synonymous SNV L351L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.603 158877 chr1 36644055 36644055 C T rs780689136 MAP7D1 Nonsynonymous SNV P545S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 158878 chrX 152584912 152584912 C T rs782246573 PNMA6F Synonymous SNV E407E 0.004 0 0 3 5 0 0.008 0 1 0 0 1 1.355 158879 chr10 115668184 115668184 T C rs200023698 NHLRC2 Synonymous SNV S690S 0 0 0.007 0 0 0 0 2 0 0 0 0 6.871 158880 chr1 40627086 40627086 G A rs760297325 RLF Synonymous SNV K5K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.3 158881 chr10 123844670 123844670 C T rs41288004 TACC2 Synonymous SNV N885N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.16 158882 chr10 115439689 115439689 G A rs140427264 CASP7 Nonsynonymous SNV R59Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.771 158883 chr10 115485239 115485239 C T rs116709623 CASP7 Synonymous SNV H140H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.75 158884 chr10 115485616 115485616 G A rs117527259 CASP7 Nonsynonymous SNV R162H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.205 158885 chr1 32678184 32678184 C T rs201725932 DCDC2B Synonymous SNV D207D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.82 158886 chr10 115609152 115609152 T C DCLRE1A Nonsynonymous SNV E571G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 158887 chr1 46073553 46073553 G A rs201446871 NASP Nonsynonymous SNV E260K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.4 158888 chr8 145532597 145532597 G A rs150835821 HSF1 Synonymous SNV G41G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 158889 chr1 36859638 36859638 C A LSM10 Synonymous SNV V31V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 158890 chrX 47485487 47485487 C T CFP Nonsynonymous SNV R405H 0.002 0 0 0 2 0 0 0 1 0 0 0 34 158891 chr10 120796687 120796687 T G rs771994561 EIF3A Nonsynonymous SNV D1288A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 158892 chrX 49029591 49029591 T C rs782368813 PLP2 Nonsynonymous SNV L71P 0.002 0 0 0 2 0 0 0 1 0 0 0 26.7 158893 chr8 145700066 145700066 G A rs770944195 FOXH1 Nonsynonymous SNV P218L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.3 158894 chr8 145731478 145731478 C T rs780838921 GPT Nonsynonymous SNV A307V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 158895 chr2 48698287 48698287 A G rs148817090 PPP1R21 Nonsynonymous SNV H320R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.8 158896 chr10 13043224 13043224 T C rs201331459 CCDC3 Nonsynonymous SNV Q116R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 17.38 158897 chr1 47905074 47905074 G C FOXD2 Nonsynonymous SNV G423R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 158898 chrX 64722721 64722721 G A rs759811849 ZC3H12B Nonsynonymous SNV V715M 0.002 0 0 0 2 0 0 0 1 0 0 0 5.26 158899 chr1 52879582 52879582 G A PRPF38A Nonsynonymous SNV R214Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 158900 chr2 55254295 55254295 C T rs144622313 RTN4 Nonsynonymous SNV V108I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.001 158901 chr1 41218835 41218835 G A rs747994542 NFYC Nonsynonymous SNV A64T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 33 158902 chr2 61175251 61175251 C G rs377687971 PUS10 Nonsynonymous SNV V237L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.399 158903 chr7 75933482 75933482 G A rs367857772 HSPB1 Nonsynonymous SNV A204T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.04 158904 chr1 43300750 43300750 - CTGTGATC rs762966689 ERMAP Stop gain P163* 0.002 0 0 0 2 0 0 0 0 0 0 0 158905 chr1 43892477 43892477 C T rs370803181 SZT2 Synonymous SNV S1045S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 11.43 158906 chr19 42219139 42219139 G A rs376770900 CEACAM5 Nonsynonymous SNV R225H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.995 158907 chr7 78256446 78256446 C T rs140651421 MAGI2 Synonymous SNV G176G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.6 158908 chr10 101715249 101715249 T C rs80174740 DNMBP Nonsynonymous SNV K661R 0.004 0.016 0.01 0 5 6 0 3 0 0 0 0 0.082 158909 chrX 152722678 152722678 G A rs373741337 HAUS7 Synonymous SNV A131A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.037 158910 chr19 42853806 42853806 C T rs140035679 MEGF8 Synonymous SNV S751S 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Likely benign 19.49 158911 chr1 45480467 45480467 G A UROD Synonymous SNV E278E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.178 158912 chr10 101945330 101945330 A T ERLIN1 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.467 158913 chr10 135232996 135232996 C G MTG1 Nonsynonymous SNV H255Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 158914 chr7 82582707 82582707 G A rs761578504 PCLO Nonsynonymous SNV T2521I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.01 158915 chrX 153134028 153134028 G A L1CAM Synonymous SNV L507L 0.003 0 0 0 4 0 0 0 1 0 0 0 0.138 158916 chr1 46497221 46497221 G T MAST2 Nonsynonymous SNV A1051S 0.001 0 0 0 1 0 0 0 0 0 0 0 30 158917 chr1 46497222 46497222 C T MAST2 Nonsynonymous SNV A1051V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 158918 chr8 22864274 22864274 G A rs772744237 RHOBTB2 Synonymous SNV E179E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.76 158919 chrX 17819129 17819129 G T rs144136158 RAI2 Synonymous SNV P334P 0.009 0.003 0.007 0 10 1 0 2 1 0 1 0 Benign 0.095 158920 chr1 52761621 52761621 C T rs202129003 ZFYVE9 Nonsynonymous SNV T1043M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 158921 chr10 134981795 134981795 C T rs144149557 KNDC1 Synonymous SNV D113D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.24 158922 chr8 25364857 25364857 G A rs777876068 CDCA2 Nonsynonymous SNV R877H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 158923 chr10 25273744 25273744 T C rs33980615 ENKUR Nonsynonymous SNV R167G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 158924 chr10 26589856 26589856 T C rs145419731 GAD2 Nonsynonymous SNV I575T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 25.3 158925 chr10 27703038 27703038 G A rs758402570 PTCHD3 Synonymous SNV L48L 0 0 0.01 1 0 0 0.003 3 0 0 0 0 0.861 158926 chr19 45418196 45418196 C G rs72654453 APOC1 Nonsynonymous SNV I16M 0.01 0.005 0.014 5 12 2 0.013 4 0 0 0 0 0.003 158927 chr8 3081360 3081360 C T rs755238657 CSMD1 Nonsynonymous SNV A1459T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 20.3 158928 chr10 1175167 1175167 G T rs1026197321 WDR37 Nonsynonymous SNV M456I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.96 158929 chr10 17130291 17130291 G T CUBN Nonsynonymous SNV P607T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 158930 chr8 10390537 10390537 T C rs182279550 PRSS55 Synonymous SNV N240N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.014 158931 chr8 10411509 10411509 G A rs568815105 PRSS55 Synonymous SNV P266P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.93 158932 chr10 11805462 11805462 C T rs777355285 ECHDC3 Synonymous SNV N277N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 158933 chr8 3351226 3351226 T C CSMD1 Nonsynonymous SNV E456G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 158934 chr8 37730004 37730004 C T rs148197928 RAB11FIP1 Synonymous SNV A772A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 158935 chr1 85331462 85331462 A C rs41289037 LPAR3 Synonymous SNV T114T 0.005 0.005 0.007 5 6 2 0.013 2 0 0 0 0 Benign 0.002 158936 chrX 53115006 53115006 G A TSPYL2 Nonsynonymous SNV D478N 0.004 0.003 0 3 5 1 0.008 0 1 0 0 1 13.24 158937 chr10 101544387 101544387 C T rs141278106 ABCC2 Nonsynonymous SNV P19L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 158938 chrX 55514881 55514881 T C rs138173648 USP51 Synonymous SNV R164R 0.005 0.003 0 7 6 1 0.018 0 1 0 0 3 Benign 0.012 158939 chr10 44140326 44140326 T A rs74341213 ZNF32-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.808 158940 chrX 56591325 56591325 G T rs201549050 UBQLN2 Nonsynonymous SNV S340I 0.004 0.003 0 3 5 1 0.008 0 1 0 0 1 7.811 158941 chr10 101997832 101997832 T G rs1027834373 CWF19L1 Nonsynonymous SNV K264Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.3 158942 chr10 44140333 44140333 G A rs79274675 ZNF32-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.21 158943 chrX 57020804 57020804 T C SPIN3 Nonsynonymous SNV N193D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 158944 chr10 45799266 45799266 A G rs374871390 OR13A1 Nonsynonymous SNV L202P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 158945 chrX 69370067 69370067 G C IGBP1 Nonsynonymous SNV G164R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 158946 chr10 24924009 24924009 G A ARHGAP21 Nonsynonymous SNV P98S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 158947 chr1 65243477 65243477 G A rs199595651 RAVER2 Nonsynonymous SNV R163H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 158948 chr8 113267584 113267584 T A CSMD3 Nonsynonymous SNV E3112V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 158949 chr10 48390754 48390754 G A rs1052265069 RBP3 Nonsynonymous SNV P42S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 158950 chr8 6682776 6682776 C T rs189906988 XKR5 Nonsynonymous SNV R113Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.02 158951 chr10 49939427 49939427 C A rs539358549 WDFY4 Synonymous SNV R468R 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 15.07 158952 chr1 93620334 93620334 C G TMED5 Nonsynonymous SNV V195L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 158953 chr10 34620080 34620080 G A rs753538217 PARD3 Nonsynonymous SNV P861L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.7 158954 chr1 77515982 77515982 A G rs143357043 ST6GALNAC5 Nonsynonymous SNV N101D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.261 158955 chr10 115340453 115340453 T C rs201663524 HABP2 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 158956 chr8 8235510 8235510 G C rs56290960 PRAG1 Nonsynonymous SNV R137G 0.009 0.01 0.007 3 10 4 0.008 2 0 0 0 0 21.1 158957 chr10 46970520 46970520 C A rs116148016 LOC102724488 Nonsynonymous SNV R98L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.02 158958 chr1 100614648 100614648 G T rs765070352 LRRC39 Nonsynonymous SNV Q320K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.19 158959 chr19 49387078 49387078 C G TULP2 Nonsynonymous SNV R403P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 31 158960 chr19 49469126 49469126 A C rs766983397 FTL Nonsynonymous SNV K68Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.4 158961 chr8 90926879 90926879 T C rs35542900 OSGIN2 Nonsynonymous SNV Y145H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 158962 chr8 90955583 90955583 A C rs7823648 NBN Synonymous SNV P694P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.021 158963 chr8 131179833 131179833 T A rs770825887 ASAP1 Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 158964 chr10 103340014 103340014 G A rs200281533 POLL Nonsynonymous SNV R177W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 158965 chr2 121746930 121746930 A G GLI2 Nonsynonymous SNV N1005S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 158966 chr10 103919050 103919050 A C NOLC1 Synonymous SNV A236A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.31 158967 chr10 67680253 67680253 G A rs769407192 CTNNA3 Synonymous SNV P841P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.221 158968 chr19 50017277 50017277 G T FCGRT Nonsynonymous SNV C71F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.01 158969 chr10 105349392 105349392 T C NEURL1 Synonymous SNV S487S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.158 158970 chr9 101585707 101585707 G A GALNT12 Nonsynonymous SNV E181K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19.41 158971 chr10 5254980 5254980 T C rs533399756 AKR1C4 Nonsynonymous SNV L235P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 158972 chr10 18430137 18430137 T C CACNB2 Nonsynonymous SNV L10P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.1 158973 chr10 73491922 73491922 C T rs370094327 CDH23 Synonymous SNV S1298S 0 0 0.007 0 0 0 0 2 0 0 0 0 16.73 158974 chr2 141707921 141707921 A G LRP1B Nonsynonymous SNV F1007L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.43 158975 chr9 107267327 107267327 C G rs79634384 OR13F1 Nonsynonymous SNV P262A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.9 158976 chr10 75567585 75567585 G A rs201159878 NDST2 Nonsynonymous SNV P188S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 158977 chr10 25887135 25887135 A C rs778678252 GPR158 Nonsynonymous SNV K860N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.57 158978 chr10 115959016 115959016 C T rs933164283 TDRD1 Nonsynonymous SNV L157F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 158979 chr10 27356140 27356140 T C rs375318218 ANKRD26 Nonsynonymous SNV T385A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.001 158980 chr10 118960767 118960767 C G rs752022060 KCNK18 Synonymous SNV L107L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.33 158981 chr10 88459050 88459050 G A rs144445130 LDB3 Synonymous SNV T304T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.43 158982 chr2 163134090 163134090 C A rs35744605 IFIH1 Stop gain E627X 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 38 158983 chr1 112533649 112533649 C G rs74527086 LINC01750 0.003 0 0 0 3 0 0 0 0 0 0 0 4.499 158984 chr1 113192071 113192071 C T CAPZA1 Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 158985 chr10 74916162 74916162 G A rs147438502 ECD Nonsynonymous SNV S154F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.57 158986 chr10 75264646 75264646 A T USP54 Nonsynonymous SNV S1363T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 158987 chr10 75671294 75671294 A G rs201591610 C10orf55 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 8.934 158988 chr1 115401173 115401173 A C SYCP1 Synonymous SNV S99S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 158989 chr10 77158882 77158882 G A rs761586463 ZNF503 Synonymous SNV N522N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.049 158990 chr10 98510104 98510104 G A rs201746862 RPL13AP5 0 0 0.017 0 0 0 0 5 0 0 0 0 10.86 158991 chr10 78711795 78711795 C T rs376593684 KCNMA1 Synonymous SNV E811E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.123 158992 chr1 153330777 153330777 G A rs112531265 S100A9 Synonymous SNV S6S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.024 158993 chr1 120464969 120464969 T C rs201233415 NOTCH2 Synonymous SNV K1701K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.977 158994 chr1 155015899 155015899 C T rs146174361 DCST1 Synonymous SNV Y337Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign 5.561 158995 chr1 155150602 155150602 G A rs143154805 TRIM46 Nonsynonymous SNV R219H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 158996 chr1 155247587 155247587 A G rs61812063 HCN3 Nonsynonymous SNV K69R 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 21.1 158997 chr10 25312785 25312785 G A rs778638902 THNSL1 Synonymous SNV E211E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.493 158998 chr1 156011387 156011387 G A rs138517345 UBQLN4 Synonymous SNV P494P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.52 158999 chr1 156046473 156046473 T C rs200968425 MEX3A Synonymous SNV G485G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.15 159000 chr9 127684100 127684100 A G rs140095910 GOLGA1 Synonymous SNV R211R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.721 159001 chr8 18079679 18079679 C T NAT1 Synonymous SNV N41N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 159002 chr9 130883533 130883533 C T rs776251294 PTGES2 Nonsynonymous SNV R342H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 159003 chr8 2088697 2088697 G C rs34735757 MYOM2 Nonsynonymous SNV E1284D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.32 159004 chr10 35897400 35897400 A G rs374623236 GJD4 Nonsynonymous SNV Q320R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 159005 chr8 22458601 22458601 T C rs755822102 C8orf58 Synonymous SNV L83L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.814 159006 chr11 102593736 102593736 C T rs34064844 MMP8 Nonsynonymous SNV E7K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.354 159007 chr11 103022930 103022930 T C rs202082545 DYNC2H1 Synonymous SNV G1004G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.825 159008 chr10 22826178 22826178 T C rs80142698 PIP4K2A Synonymous SNV E332E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.09 159009 chr2 191862697 191862697 T A rs771750276 STAT1 Nonsynonymous SNV T224S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.53 159010 chr1 154988255 154988255 C A rs71628639 ZBTB7B Synonymous SNV P373P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.61 159011 chr1 155013947 155013947 - A DCST1 Frameshift insertion S178Kfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 159012 chr1 155109371 155109371 G A SLC50A1 Nonsynonymous SNV G30S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 159013 chr11 110561282 110561282 C T rs375478681 ARHGAP20 Nonsynonymous SNV R36Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 159014 chr11 111583057 111583057 G A rs142352977 SIK2 Synonymous SNV A408A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.009 159015 chr10 29839608 29839608 C T rs373559551 SVIL Nonsynonymous SNV A249T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.195 159016 chr11 112119607 112119607 C G rs28548361 PLET1 Nonsynonymous SNV G180A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.461 159017 chr8 29989569 29989569 T C rs139387795 MBOAT4 Nonsynonymous SNV R400G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 159018 chr11 113631622 113631622 C T rs150108580 ZW10 Nonsynonymous SNV V87I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 159019 chr10 5443007 5443007 A G rs142016255 TUBAL3 Nonsynonymous SNV I16T 0.004 0 0.01 0 5 0 0 3 0 0 0 0 23.2 159020 chr1 158435441 158435441 C T rs147936310 OR10K1 Synonymous SNV I30I 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 12.81 159021 chr1 158517442 158517442 C T rs140426097 OR6Y1 Nonsynonymous SNV G152R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 159022 chr11 103039487 103039487 C T rs770524713 DYNC2H1 Nonsynonymous SNV S1589L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.5 159023 chr11 118014730 118014730 G A rs768926261 SCN4B Nonsynonymous SNV T94M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.021 159024 chr8 442599 442599 A C rs114134672 TDRP Nonsynonymous SNV S120A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 159025 chr1 158655041 158655041 G T rs121918640 SPTA1 Synonymous SNV R41R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.47 159026 chr8 53853142 53853142 C T NPBWR1 Synonymous SNV T225T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 159027 chr8 54900676 54900676 C G rs200590980 TCEA1 Nonsynonymous SNV G134A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24 159028 chr11 105929762 105929762 T C rs142317969 KBTBD3 Synonymous SNV P21P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.833 159029 chr8 61754417 61754417 T C rs781715615 CHD7 Synonymous SNV V1552V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.014 159030 chr20 257911 257911 A C C20orf96 Nonsynonymous SNV S226A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 159031 chr8 623572 623572 C T rs115887455 ERICH1 Synonymous SNV P260P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.08 159032 chr10 90497486 90497486 G A rs562671234 LIPK Nonsynonymous SNV C255Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.4 159033 chr11 11951637 11951637 G A rs199712587 USP47 Nonsynonymous SNV S454N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 159034 chr11 108173678 108173678 A G rs763020528 ATM Nonsynonymous SNV I1806M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 159035 chr11 120200806 120200806 C T rs759018417 TLCD5 Nonsynonymous SNV T6I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 159036 chr1 180053158 180053158 A C rs56173179 CEP350 Nonsynonymous SNV T2044P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.5 159037 chr2 219232388 219232388 G A rs56326225 CATIP-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.854 159038 chr11 110124834 110124834 C T rs774350060 RDX Nonsynonymous SNV D130N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 159039 chr8 67883338 67883338 A G rs533589086 PPP1R42 Synonymous SNV Y197Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 159040 chr10 72434391 72434391 C T rs144227111 ADAMTS14 Synonymous SNV S54S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.69 159041 chr1 185964067 185964067 G T rs573371474 HMCN1 Nonsynonymous SNV S1209I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.27 159042 chr11 113780109 113780109 C T rs965260232 HTR3B Nonsynonymous SNV P38S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 159043 chr1 169094276 169094276 C T rs146260113 ATP1B1 Synonymous SNV G127G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.13 159044 chr1 186352226 186352226 A G ODR4 Nonsynonymous SNV K58E 0 0 0 1 0 0 0.003 0 0 0 0 0 15 159045 chr10 73377112 73377112 G A rs143282422 CDH23 Nonsynonymous SNV A366T 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign/Likely benign 25.7 159046 chr11 125850982 125850982 T C rs758239580 CDON Nonsynonymous SNV T1080A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 159047 chr10 99498360 99498360 C T rs17419023 ZFYVE27 Synonymous SNV L42L 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 13.66 159048 chr10 75893804 75893804 G A rs147357101 AP3M1 Synonymous SNV D188D 0.003 0 0 0 3 0 0 0 0 0 0 0 11.28 159049 chr11 1277423 1277423 C T rs185251493 MUC5B Synonymous SNV C5368C 0 0 0.007 0 0 0 0 2 0 0 0 0 11.4 159050 chr1 201063084 201063084 G A rs200487405 CACNA1S Synonymous SNV Y108Y 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 9.556 159051 chr10 64966946 64966946 T C rs148283530 JMJD1C Nonsynonymous SNV K1276E 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 23.1 159052 chr11 118402982 118402982 T G TMEM25 Nonsynonymous SNV L63W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 159053 chr9 101552717 101552717 G A rs745610971 ANKS6 Synonymous SNV G177G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.095 159054 chr1 179063353 179063356 GTGA - rs775020822 TOR3A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 159055 chr1 179503952 179503952 T C AXDND1 Synonymous SNV D962D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.838 159056 chr9 107547905 107547905 A G ABCA1 Synonymous SNV Y2139Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 1.451 159057 chr10 90492045 90492045 G A rs773677755 LIPK 0.001 0 0 0 1 0 0 0 0 0 0 0 26 159058 chr20 21695223 21695223 G A rs760787621 PAX1 Nonsynonymous SNV A463T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 159059 chr11 1017426 1017426 C T rs199866370 MUC6 Nonsynonymous SNV R1792K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 159060 chr1 180145116 180145116 G A QSOX1 Nonsynonymous SNV E155K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 159061 chr11 19955609 19955609 G A rs372319583 NAV2 Nonsynonymous SNV G543S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.492 159062 chr20 23066542 23066542 C T rs117528062 CD93 Synonymous SNV G96G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.43 159063 chr20 23350941 23350941 G A rs6048766 GZF1 Nonsynonymous SNV D667N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 159064 chr20 23424630 23424630 G A rs149551165 CSTL1 Synonymous SNV R93R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.626 159065 chr11 20949952 20949952 C T rs8176795 NELL1 Synonymous SNV S251S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 15.39 159066 chr10 74806754 74806754 G A rs553614855 P4HA1 Nonsynonymous SNV R336C 0.004 0.013 0 0 5 5 0 0 0 0 0 0 31 159067 chr11 32118694 32118694 A G rs199769797 RCN1 Nonsynonymous SNV I87V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 159068 chr1 197112587 197112587 G A rs759553972 ASPM Synonymous SNV N265N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.716 159069 chr10 87484216 87484216 T C rs764190381 GRID1 Nonsynonymous SNV N584S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.617 159070 chr2 239165637 239165637 G A rs70965448 PER2 Nonsynonymous SNV A664V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.176 159071 chr20 35127667 35127667 C A rs200934052 DLGAP4 Nonsynonymous SNV S678Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.23 159072 chr20 35827628 35827628 C T rs372064976 RPN2 Nonsynonymous SNV A128V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.4 159073 chr10 90694793 90694793 G T rs7908852 ACTA2-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.007 159074 chr11 35016546 35016546 T G rs147948716 PDHX Nonsynonymous SNV F218V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 8.072 159075 chr9 117853202 117853202 C T rs145367019 TNC Synonymous SNV K32K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.7 159076 chr9 119413990 119413990 C T rs144337233 ASTN2 Nonsynonymous SNV M15I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 23.4 159077 chr1 201981233 201981233 T C rs115158470 ELF3 Synonymous SNV N104N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.338 159078 chr10 95259983 95259983 C T rs62618732 CEP55 Nonsynonymous SNV L59F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 23.8 159079 chr1 201981878 201981878 T C rs765892835 ELF3 Nonsynonymous SNV S197P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 159080 chr1 202121786 202121786 C T rs61757799 PTPN7 Synonymous SNV S253S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 159081 chr2 242758352 242758352 G A rs764606838 NEU4 Nonsynonymous SNV R491Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 159082 chr1 202406991 202406991 G C rs768648375 PPP1R12B Nonsynonymous SNV E433Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 159083 chr11 108253850 108253850 T C rs373830557 C11orf65 Nonsynonymous SNV I280M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.035 159084 chr1 203012539 203012539 A G rs114382539 PPFIA4 Synonymous SNV L83L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.553 159085 chr1 203186093 203186093 G A rs1065761 CHIT1 Nonsynonymous SNV A423V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.6 159086 chr1 203186865 203186868 ACTC - rs143439055 CHIT1 L368Sfs*11 0.001 0 0.003 0 1 0 0 1 0 0 0 0 159087 chr1 203186963 203186963 C T rs9943208 CHIT1 Nonsynonymous SNV G335R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 29.6 159088 chr1 203453023 203453023 G A rs2233728 PRELP Synonymous SNV P237P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 7.675 159089 chr9 96021820 96021820 C T rs368330463 WNK2 Nonsynonymous SNV A997V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 1.706 159090 chr9 125438287 125438287 C T rs139764077 OR1L3 Synonymous SNV N293N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.59 159091 chr11 46812079 46812079 T C CKAP5 Nonsynonymous SNV T569A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 159092 chr11 134014164 134014164 G A rs148009046 JAM3 Synonymous SNV L95L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.38 159093 chr1 204399131 204399131 C T rs770492039 PIK3C2B Nonsynonymous SNV G1439E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 159094 chr9 97382621 97382621 G A rs202079958 FBP1 Nonsynonymous SNV P108L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 159095 chr9 97844938 97844938 C T rs145969368 AOPEP Nonsynonymous SNV R702W 0.005 0 0 2 6 0 0.005 0 0 0 0 0 24.5 159096 chr10 99968460 99968460 G A rs139067059 R3HCC1L Nonsynonymous SNV A197T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 159097 chr1 212118216 212118216 G A rs76573676 INTS7 Synonymous SNV H788H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.82 159098 chr9 131256911 131256911 C T rs199784940 ODF2 Synonymous SNV I544I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 159099 chr1 212619297 212619297 G A rs17019084 NENF Synonymous SNV L156L 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 11.64 159100 chr20 56136498 56136498 C T rs146652385 PCK1 Nonsynonymous SNV L11F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 159101 chr1 212799092 212799092 C G rs116618584 FAM71A Synonymous SNV T291T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.416 159102 chr1 212799290 212799290 C T rs77264122 FAM71A Synonymous SNV S357S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.93 159103 chr9 131388878 131388878 A G rs144289764 SPTAN1 Nonsynonymous SNV K2138R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 159104 chr1 229622236 229622236 G A rs35442997 NUP133 Nonsynonymous SNV P461L 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 25.5 159105 chr1 229636561 229636561 C T rs75411588 NUP133 Nonsynonymous SNV S152N 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 10.41 159106 chr11 105929784 105929784 C T rs754502852 KBTBD3 Nonsynonymous SNV R14Q 0.003 0 0 0 3 0 0 0 0 0 0 0 12.05 159107 chr1 217793514 217793514 C T rs772835263 GPATCH2 Synonymous SNV P128P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 159108 chr11 4903802 4903802 C T rs766869888 OR51T1 Nonsynonymous SNV R225C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 159109 chr9 134034811 134034811 A G rs140888603 NUP214 Synonymous SNV Q816Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.68 159110 chr9 134039474 134039474 C A rs768135179 NUP214 Nonsynonymous SNV Q936K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 159111 chr11 2909699 2909699 C T rs80153297 SLC22A18AS Nonsynonymous SNV G55E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.92 159112 chr9 134072823 134072823 G A rs150421135 NUP214 Synonymous SNV P140P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 11.96 159113 chr20 61430856 61430856 A G rs369540111 MRGBP Nonsynonymous SNV K159R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.9 159114 chr1 224621538 224621538 G A rs202205027 WDR26 Synonymous SNV A90A 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 8.916 159115 chrX 24228458 24228458 T C rs149869172 ZFX Synonymous SNV C232C 0.002 0 0 0 2 0 0 0 1 0 0 0 0.004 159116 chr1 225393766 225393766 G A DNAH14 Nonsynonymous SNV C2024Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 159117 chr11 3249784 3249784 G A rs200957230 MRGPRE Synonymous SNV P82P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.101 159118 chr9 135984173 135984173 T C rs140573248 RALGDS Nonsynonymous SNV K167R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 19.73 159119 chrX 29938180 29938180 T C rs199971765 IL1RAPL1 Synonymous SNV R342R 0.003 0 0 0 4 0 0 0 1 0 0 0 0.108 159120 chr1 245180555 245180555 G A rs144878367 EFCAB2 Nonsynonymous SNV A13T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.59 159121 chr1 245319861 245319861 G A rs745950507 KIF26B Nonsynonymous SNV G114D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 159122 chrX 37985844 37985844 T C rs776301162 SYTL5 Nonsynonymous SNV V707A 0.002 0.005 0 5 2 2 0.013 0 1 1 0 2 19.22 159123 chr9 136653533 136653533 G A rs370424459 VAV2 Synonymous SNV I445I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.21 159124 chr11 111745651 111745651 G A rs781847840 FDXACB1 Nonsynonymous SNV R624W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 159125 chr1 228451823 228451823 A G rs752972778 OBSCN Nonsynonymous SNV K1531R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 159126 chr11 5443902 5443902 G C rs145007917 OR51Q1 Nonsynonymous SNV V158L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.544 159127 chrX 53106670 53106670 C T rs782087921 GPR173 Synonymous SNV Y289Y 0.002 0 0 0 2 0 0 0 1 0 0 0 7.852 159128 chr1 247835673 247835673 C T rs143962471 OR13G1 Nonsynonymous SNV R224H 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 15.09 159129 chr3 44541254 44541254 T G rs146392492 ZNF852 Nonsynonymous SNV S339R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.6 159130 chrX 54784100 54784100 T A ITIH6 Stop gain K803X 0.002 0 0 0 2 0 0 0 1 0 0 0 35 159131 chr11 5529936 5529936 T C rs2234449 UBQLN3 Nonsynonymous SNV N285D 0.004 0 0.007 0 5 0 0 2 0 0 0 0 0.202 159132 chrX 69479172 69479172 C T rs148362984 P2RY4 Stop gain W101X 0.003 0.003 0 0 3 1 0 0 1 0 0 0 37 159133 chr11 119025270 119025270 G A rs200058802 ABCG4 Synonymous SNV E175E 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 10.27 159134 chr11 5536548 5536548 C T rs36020613 UBQLNL Nonsynonymous SNV R375Q 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 0.018 159135 chr11 5536759 5536759 G A rs80343871 UBQLNL Stop gain Q305X 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 25.7 159136 chr11 1274169 1274169 C T rs199819779 MUC5B Nonsynonymous SNV S5059L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.582 159137 chr11 46387931 46387933 CCT - rs750005398 DGKZ S45del 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 159138 chr9 139371031 139371031 C T rs201222771 SEC16A Nonsynonymous SNV R346H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.15 159139 chr11 114569426 114569426 G A NXPE2 Synonymous SNV E264E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.06 159140 chr11 114577439 114577439 T C rs181636764 NXPE2 Synonymous SNV T489T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.055 159141 chr11 5566440 5566440 C A rs79009278 OR52H1 Nonsynonymous SNV C105F 0.004 0 0.003 0 5 0 0 1 0 0 0 0 29 159142 chr9 139402760 139402760 G A rs139994842 NOTCH1 Synonymous SNV C1083C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.14 159143 chr11 131781414 131781414 C T rs746498409 NTM Synonymous SNV C13C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 159144 chr1 234565877 234565877 G A rs149121974 TARBP1 Synonymous SNV H855H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.769 159145 chr1 234595070 234595070 T C rs35562024 TARBP1 Nonsynonymous SNV D513G 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Benign 15.27 159146 chr11 12247851 12247851 C T rs184076407 MICAL2 Nonsynonymous SNV L608F 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 159147 chr1 235324506 235324506 C A rs200635285 RBM34 Nonsynonymous SNV K12N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.6 159148 chr9 139836670 139836670 G A rs35438842 FBXW5 Synonymous SNV R308R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.216 159149 chr10 101462372 101462372 C A ENTPD7 Synonymous SNV R509R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 159150 chr3 48505247 48505247 G A rs753379671 ATRIP Nonsynonymous SNV D524N 0 0 0 3 0 0 0.008 0 0 0 0 0 11.77 159151 chr10 102242545 102242545 C T WNT8B Nonsynonymous SNV A343V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 159152 chr11 118133248 118133248 T A rs377722541 MPZL2 Nonsynonymous SNV Q114L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 159153 chr11 118827691 118827691 - CACT rs757139553 UPK2 Frameshift insertion M61Tfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 159154 chr10 102743145 102743145 C T rs146245319 SEMA4G Nonsynonymous SNV R597W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 24.7 159155 chr1 236966848 236966848 G A rs12749581 MTR Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.2 159156 chr11 119066155 119066155 G A CCDC153 Stop gain Q15X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 159157 chr9 140147148 140147148 G A rs541282873 STPG3 Nonsynonymous SNV R176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 159158 chr11 5625784 5625784 A G rs3751005 TRIM6, TRIM6-TRIM34 Synonymous SNV L176L 0.005 0.003 0.01 2 6 1 0.005 3 0 0 0 0 7.767 159159 chr3 52472042 52472042 C A rs748109642 SEMA3G Synonymous SNV R561R 0 0 0 3 0 0 0.008 0 0 0 0 0 14.57 159160 chr11 122805610 122805610 C T rs754895855 JHY Synonymous SNV T449T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 8.797 159161 chr3 52558341 52558341 C T rs749634651 STAB1 Nonsynonymous SNV P2561L 0 0 0 3 0 0 0.008 0 0 0 0 0 25.6 159162 chr3 56653422 56653423 AG - rs748331545 CCDC66 E802Ifs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 159163 chr11 5717780 5717780 C T rs61735271 TRIM22 Synonymous SNV I106I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 14.85 159164 chr21 43697009 43697009 C T rs138056067 ABCG1 Nonsynonymous SNV S181L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 159165 chr10 116008504 116008504 G C rs34774573 VWA2 Nonsynonymous SNV C11S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.114 159166 chr11 57511818 57511818 T C rs750275119 BTBD18 Nonsynonymous SNV T643A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.338 159167 chr11 124180458 124180458 C T rs138189651 OR8D1 Nonsynonymous SNV V69I 0.008 0.005 0 5 9 2 0.013 0 0 0 0 0 0.024 159168 chr3 64526901 64526901 T C ADAMTS9 Synonymous SNV L1769L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.243 159169 chr11 133789677 133789677 G A rs768468003 IGSF9B Nonsynonymous SNV L1315F 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 24.9 159170 chr11 133790517 133790517 G A rs765281579 IGSF9B Nonsynonymous SNV R1035C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 159171 chr11 134120213 134120213 G A THYN1 Stop gain Q83X 0.004 0.005 0 0 5 2 0 0 0 0 0 0 36 159172 chr2 26410268 26410268 G T GAREM2 Nonsynonymous SNV E589D 0 0 0 1 0 0 0.003 0 0 0 0 0 22 159173 chr21 47409546 47409546 G A COL6A1 Nonsynonymous SNV V295I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.133 159174 chr2 27447234 27447234 G A rs761642796 CAD Nonsynonymous SNV R377H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 159175 chr11 34174046 34174046 C T rs141021753 ABTB2 Nonsynonymous SNV R989Q 0.003 0 0 0 4 0 0 0 0 0 0 0 26.4 159176 chr11 130318916 130318916 T C rs150283574 ADAMTS15 Synonymous SNV A16A 0.006 0.003 0.017 1 7 1 0.003 5 0 0 1 0 2.471 159177 chr10 124749751 124749752 AG - rs756167884 PSTK E314Vfs*20 0.002 0 0 0 2 0 0 0 0 0 0 0 159178 chr21 47845869 47845869 A G rs373432697 PCNT Nonsynonymous SNV H2317R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 0.001 159179 chr10 126715878 126715878 T C rs143460037 CTBP2 Nonsynonymous SNV M151V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.002 159180 chr10 127438014 127438014 G A rs77292028 EDRF1 Nonsynonymous SNV V1019M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 159181 chr3 111766585 111766585 G A rs143270245 TMPRSS7 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 159182 chr3 111780646 111780646 C T rs148656864 TMPRSS7 Synonymous SNV S315S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.04 159183 chr3 111780716 111780716 A T rs182776846 TMPRSS7 Nonsynonymous SNV R339W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.7 159184 chr2 16085880 16085880 C T rs749608913 MYCN Synonymous SNV S141S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.734 159185 chr10 129921154 129921154 C T rs369523885 MKI67 Nonsynonymous SNV R93H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 159186 chr3 112198335 112198335 T C rs16859633 BTLA Nonsynonymous SNV I124V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.009 159187 chr11 4661369 4661369 A G rs200824770 OR51D1 Nonsynonymous SNV I117V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 159188 chr11 624595 624595 C T CDHR5 Nonsynonymous SNV G75R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.423 159189 chr11 62932004 62932004 A G rs796832667 SLC22A25 Nonsynonymous SNV I463T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.87 159190 chr11 63141410 63141410 T C rs80034352 SLC22A9 Synonymous SNV L236L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 159191 chr10 135179535 135179535 T A ECHS1 Nonsynonymous SNV K228N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 159192 chr3 121413395 121413395 C T rs111753163 GOLGB1 Nonsynonymous SNV R1912Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 159193 chrX 100497407 100497407 A G rs752061860 DRP2 Nonsynonymous SNV M230V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.669 159194 chr2 27595576 27595576 G A SNX17 Synonymous SNV R50R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 159195 chr11 64434741 64434741 G A NRXN2 Synonymous SNV F562F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.902 159196 chr11 64497551 64497551 C T RASGRP2 Nonsynonymous SNV V510I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 159197 chr3 121825319 121825319 G A rs113243388 CD86 Synonymous SNV T113T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.409 159198 chr3 122287392 122287392 G A rs9917663 DTX3L Synonymous SNV R152R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.89 159199 chr11 33722055 33722055 G C C11orf91 Nonsynonymous SNV P78A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.16 159200 chr3 122288613 122288613 C A rs9825810 DTX3L Synonymous SNV G559G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.85 159201 chr3 122289369 122289369 A T rs9868175 DTX3L Nonsynonymous SNV K668M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 17.48 159202 chrX 106841202 106841202 G A FRMPD3 Nonsynonymous SNV R731H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 159203 chr2 55562124 55562124 T A rs767630266 CCDC88A Nonsynonymous SNV R611S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 159204 chr11 2334893 2334893 G A rs2234301 TSPAN32 Nonsynonymous SNV A122T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.1 159205 chr2 55908014 55908014 G A rs151166046 PNPT1 Nonsynonymous SNV P165S 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 159206 chr22 26176101 26176101 G A rs201070289 MYO18B Nonsynonymous SNV R716Q 0 0.005 0 2 0 2 0.005 0 0 0 0 0 25.4 159207 chr11 5700399 5700399 C G rs138393052 TRIM5 Nonsynonymous SNV V140L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.87 159208 chr11 44639774 44639774 C T rs541161774 CD82 Synonymous SNV R142R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 159209 chr2 69098362 69098362 G A rs370273077 BMP10 Synonymous SNV F43F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.68 159210 chrX 13337699 13337699 G A ATXN3L Nonsynonymous SNV H119Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 159211 chr2 71012567 71012567 T A rs376948020 FIGLA Nonsynonymous SNV I197F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.117 159212 chr2 71892381 71892381 A T rs755108809 DYSF Nonsynonymous SNV Y1702F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 11.97 159213 chr2 73677596 73677596 A C rs186449817 ALMS1 Synonymous SNV S1313S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Likely benign 0.056 159214 chr2 43934605 43934605 C T PLEKHH2 Synonymous SNV S629S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 159215 chr11 66407368 66407368 G A rs199920130 RBM4 Synonymous SNV G62G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.455 159216 chr2 73678843 73678843 A G rs201390755 ALMS1 Nonsynonymous SNV E1729G 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.155 159217 chr11 67075040 67075040 A T rs201853900 SSH3 Nonsynonymous SNV H208L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 159218 chr2 74043984 74043984 G A rs201654918 C2orf78 Synonymous SNV E878E 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 0.595 159219 chr3 130452803 130452803 G A rs34797184 PIK3R4 Nonsynonymous SNV R347W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 32 159220 chr11 47788776 47788776 G A FNBP4 Nonsynonymous SNV P22L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 159221 chr11 67414455 67414455 C T rs34796596 ACY3 Synonymous SNV T20T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.2 159222 chr11 67441906 67441906 A C rs7947754 ALDH3B2 0 0 0.041 0 0 0 0 12 0 0 6 0 9.702 159223 chrX 153689534 153689534 C T rs200804384 PLXNA3 Synonymous SNV F230F 0.003 0.003 0.007 0 4 1 0 2 1 0 1 0 8.234 159224 chr11 44959794 44959794 G A rs144928861 TP53I11 Synonymous SNV G31G 0.003 0 0 0 3 0 0 0 0 0 0 0 16.85 159225 chr2 86374949 86374949 T A rs372257547 IMMT Nonsynonymous SNV E469V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 159226 chr11 61546883 61546883 C T rs985424827 MYRF Nonsynonymous SNV S721L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 159227 chr11 75905788 75905788 G A WNT11 Synonymous SNV C140C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 159228 chr2 74758799 74758799 C T rs138971069 HTRA2 Stop gain R274X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 159229 chr11 62302528 62302528 C G AHNAK Nonsynonymous SNV G97R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 159230 chrX 57358193 57358193 G A rs201024763 FAAH2 Nonsynonymous SNV R192Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.11 159231 chrX 69479416 69479416 C T rs139178534 P2RY4 Nonsynonymous SNV S20N 0.004 0.008 0.017 2 5 3 0.005 5 0 1 2 1 0.003 159232 chr3 180630500 180630500 C T rs1805578 FXR1 Synonymous SNV R9R 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Benign 20.4 159233 chr11 63176330 63176330 C G rs145447525 SLC22A9 Nonsynonymous SNV T527S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.28 159234 chrX 71792552 71792552 A G HDAC8 Synonymous SNV Y20Y 0.002 0 0 4 2 0 0.01 0 0 0 0 1 1.907 159235 chr11 82935987 82935987 A G rs376999354 ANKRD42 Nonsynonymous SNV N226S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 159236 chr11 5475256 5475256 C G OR51I2 Nonsynonymous SNV L180V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.6 159237 chr3 185324264 185324264 G A rs145156187 SENP2 Nonsynonymous SNV R199H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 159238 chr11 5068485 5068485 G A rs765278267 OR52J3 Nonsynonymous SNV A244T 0.004 0 0 0 5 0 0 0 0 0 0 0 17.6 159239 chr10 71144635 71144635 G A rs200291189 HK1 Synonymous SNV T569T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 159240 chr11 8667343 8667343 A G rs61730185 TRIM66 Nonsynonymous SNV I205T 0.003 0 0.014 3 3 0 0.008 4 0 0 0 0 27.8 159241 chr2 119604701 119604701 C G rs767769043 EN1 Nonsynonymous SNV A15P 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 159242 chr2 122493316 122493316 T G NIFK Nonsynonymous SNV Q39P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.263 159243 chr2 127816701 127816701 G A rs114833236 BIN1 Synonymous SNV S241S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.543 159244 chr11 93535013 93535013 C T MED17 Synonymous SNV T447T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 159245 chr3 193042766 193042766 C T ATP13A5 Nonsynonymous SNV V521M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.86 159246 chr11 95583915 95583915 - GCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCAAA MTMR2 0 0 0.003 0 0 0 0 1 0 0 0 0 159247 chr11 95595267 95595267 - CGTTCCATGCTTTTGAAA rs780500198 MTMR2 0 0 0.003 0 0 0 0 1 0 0 0 0 159248 chr11 65404248 65404259 CCTCAGCCTCAG - rs142310983 PCNX3 L1975_S1978del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 159249 chr2 133540061 133540061 A C rs201242942 NCKAP5 Nonsynonymous SNV S1441R 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 0.003 159250 chr10 7830184 7830184 C T rs374433831 ATP5F1C Nonsynonymous SNV A5V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.336 159251 chr12 101779837 101779837 G A rs118052100 UTP20 Nonsynonymous SNV R2765H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 34 159252 chr2 110373515 110373515 C T rs765038860 SOWAHC Synonymous SNV H483H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 159253 chr12 102127389 102127389 A G SYCP3 Synonymous SNV D139D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 159254 chr2 140990837 140990837 C T rs143346664 LRP1B Nonsynonymous SNV R4573Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 159255 chr11 6630542 6630542 C T rs140322345 ILK Nonsynonymous SNV R150C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 34 159256 chr12 104067821 104067821 C A rs778614755 STAB2 Nonsynonymous SNV F836L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 159257 chr10 88423523 88423523 C T rs33936589 OPN4 Synonymous SNV P454P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.776 159258 chr10 88717212 88717212 G A rs146099184 MMRN2 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.954 159259 chr2 114493355 114493355 G A rs142282138 SLC35F5 Synonymous SNV S271S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.937 159260 chr11 67186415 67186415 C G rs372520034 CARNS1 Nonsynonymous SNV R62G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.037 159261 chr2 152520101 152520101 G A rs370965998 NEB Synonymous SNV S1908S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 10.8 159262 chr10 91177986 91177986 C G IFIT5 Nonsynonymous SNV L344V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 159263 chr10 95085594 95085594 T C rs34689790 MYOF Nonsynonymous SNV N1741D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.75 159264 chr11 56000297 56000297 A C OR5T2 Nonsynonymous SNV V122G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.669 159265 chr12 110574664 110574664 A G IFT81 Nonsynonymous SNV K5R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 159266 chr2 162565325 162565325 T G rs16846051 SLC4A10 Nonsynonymous SNV S23A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.79 159267 chr2 162929922 162929922 C T rs17575 DPP4 Synonymous SNV L27L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.5 159268 chr11 7110477 7110477 C T rs145143013 RBMXL2 Synonymous SNV D42D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 159269 chr4 2835530 2835530 G A rs374608155 SH3BP2 Nonsynonymous SNV R552Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.22 159270 chr12 117013996 117013996 G A rs373910372 MAP1LC3B2 Synonymous SNV V83V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.917 159271 chr12 118405953 118405953 G A rs753522586 KSR2 Synonymous SNV S36S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.248 159272 chr2 158157474 158157474 C T rs747435075 GALNT5 Nonsynonymous SNV P801L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 159273 chr2 177017490 177017490 C T rs753918851 HOXD4 Synonymous SNV R196R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.36 159274 chr2 179415911 179415911 A G rs193022702 TTN Synonymous SNV D21384D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.978 159275 chr11 58949881 58949881 G A rs141860745 DTX4 Nonsynonymous SNV R188H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 159276 chr2 168110599 168110599 A G rs202100155 XIRP2 Nonsynonymous SNV M190V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.3 159277 chr12 123238313 123238313 A C rs200474298 DENR Nonsynonymous SNV K22T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.58 159278 chr2 182756944 182756944 G A rs191024007 ITPRID2 Nonsynonymous SNV E51K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27 159279 chr11 6007294 6007294 A G rs61752597 OR52L1 Synonymous SNV H289H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.002 159280 chr11 8016013 8016013 T G rs141976414 EIF3F Nonsynonymous SNV F232V 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 32 159281 chr11 60501017 60501017 T A rs957866744 MS4A18 Nonsynonymous SNV I161N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 159282 chr12 126942779 126942779 G A rs144393360 LINC02347 0 0 0.01 0 0 0 0 3 0 0 0 0 2.983 159283 chr12 132464275 132464275 G A rs200939024 EP400 Nonsynonymous SNV G458R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 159284 chr12 133160082 133160082 C T rs767954682 FBRSL1 Synonymous SNV H952H 0 0 0.007 0 0 0 0 2 0 0 0 0 9.501 159285 chr2 197183394 197183394 C G rs202205403 HECW2 Nonsynonymous SNV R384S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Benign 14.7 159286 chr2 179484781 179484781 C T rs370813526 TTN Nonsynonymous SNV D6390N 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 159287 chr2 179592577 179592577 G A rs751902051 TTN Synonymous SNV F5332F 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.296 159288 chr2 202558631 202558631 A T rs757540377 MPP4 Nonsynonymous SNV M16K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 159289 chr4 44450127 44450127 C A KCTD8 Nonsynonymous SNV Q138H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 159290 chr10 3146110 3146110 C T rs768834273 PFKP Synonymous SNV V171V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.797 159291 chr2 183800060 183800060 A G rs144374101 NCKAP1 Synonymous SNV I913I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 7.947 159292 chr11 111746136 111746136 G A rs574668776 FDXACB1 Nonsynonymous SNV T462I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 159293 chr11 59283031 59283031 A G rs774458511 OR4D9 Nonsynonymous SNV I216V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 159294 chr12 10124197 10124197 T C rs140736681 CLEC12A Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 24 159295 chr11 67069208 67069208 C T rs557079696 ANKRD13D Synonymous SNV T506T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 159296 chr12 26383812 26383812 C T rs759694421 SSPN Nonsynonymous SNV R76W 0 0 0.007 0 0 0 0 2 0 0 0 0 33 159297 chr12 102074236 102074236 G A rs139662521 MYBPC1 Nonsynonymous SNV G1070E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 159298 chr12 10225930 10225930 G - rs763786699 CLEC1A W117Gfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 159299 chr2 189907963 189907963 C T rs199802059 COL5A2 Nonsynonymous SNV D1129N 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 159300 chr12 10532313 10532313 G T rs774264165 KLRC4-KLRK1, KLRK1 Nonsynonymous SNV A76D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 159301 chr2 209358383 209358383 G T rs142564922 PTH2R X348L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.93 159302 chr2 210594917 210594917 A G rs144328342 MAP2 Synonymous SNV Q404Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 0.015 159303 chr2 210798654 210798654 T C rs891838732 UNC80 Nonsynonymous SNV F1969L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.9 159304 chr11 116729161 116729161 T C rs55730930 SIK3 Nonsynonymous SNV Y899C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 159305 chr12 32138134 32138134 C T rs377521373 RESF1 Synonymous SNV N1415N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.79 159306 chr11 61549233 61549233 C T rs983633491 MYRF Nonsynonymous SNV R950C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 159307 chr11 695835 695835 C T rs576304398 TMEM80 Nonsynonymous SNV A76V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 159308 chr4 74283810 74283810 C T rs139400924 ALB Synonymous SNV S478S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.39 159309 chr11 62064987 62064987 C T rs149931773 SCGB1D4 Nonsynonymous SNV D67N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 159310 chr12 43944898 43944898 G A rs1039380050 ADAMTS20 Synonymous SNV F89F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 159311 chr11 65631133 65631133 G A rs752901382 MUS81 Nonsynonymous SNV R301H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 159312 chr12 48528798 48528798 A G rs142868881 PFKM Nonsynonymous SNV I274V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Uncertain significance 23.6 159313 chr2 207631446 207631446 G C rs147727753 FASTKD2 Nonsynonymous SNV S10T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.56 159314 chr12 110023890 110023890 C T rs104895329 MVK Synonymous SNV H145H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.97 159315 chr12 48741781 48741781 G C ZNF641 Nonsynonymous SNV S31R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.33 159316 chr12 112572637 112572637 A T TRAFD1 Nonsynonymous SNV K48I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 159317 chr12 49942763 49942763 G A KCNH3 Synonymous SNV Q365Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 159318 chr11 66103849 66103849 C T rs778664939 RIN1 Nonsynonymous SNV A9T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.872 159319 chr12 50304981 50304981 G T LINC02396 0 0 0.003 0 0 0 0 1 0 0 0 0 5.024 159320 chr10 69881304 69881304 C T rs1048512621 MYPN Nonsynonymous SNV P37S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 10.86 159321 chr11 68747507 68747507 T G rs143309852 MRGPRD Nonsynonymous SNV N317H 0.004 0 0 0 5 0 0 0 0 0 0 0 12.86 159322 chr10 71007274 71007274 T C HKDC1 Nonsynonymous SNV L397P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.6 159323 chr2 219693284 219693284 G A rs138130157 PRKAG3 Nonsynonymous SNV R225W 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 33 159324 chr10 72358722 72358722 T C rs28933375 PRF1 Nonsynonymous SNV N252S 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.037 159325 chr12 53189529 53189529 C T rs188384912 KRT3 Nonsynonymous SNV G100S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.69 159326 chr10 72360197 72360197 T C rs116554195 PRF1 Synonymous SNV A154A 0.008 0.018 0.007 6 9 7 0.015 2 0 0 0 0 Benign 6.954 159327 chr10 72360224 72360224 C T rs115281140 PRF1 Synonymous SNV V145V 0.008 0.018 0.007 6 9 7 0.015 2 0 0 0 0 Benign 10.04 159328 chr11 1260744 1260744 - GCGT MUC5B Frameshift insertion T1178Afs*33 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 159329 chr2 220366249 220366249 C T rs34873891 GMPPA Nonsynonymous SNV P64S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.98 159330 chr2 232457983 232457983 G A rs149451630 TEX44 Synonymous SNV A107A 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 7.311 159331 chr11 128840569 128840569 G T ARHGAP32 Nonsynonymous SNV N1150K 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 159332 chr4 119145715 119145715 C G NDST3 Nonsynonymous SNV L537V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 159333 chr11 130319106 130319106 T G rs61733898 ADAMTS15 Nonsynonymous SNV S80A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.073 159334 chr12 5603650 5603650 C T rs35988749 NTF3 Synonymous SNV T90T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 7.879 159335 chr11 93432967 93432967 G C rs566532495 CEP295 Nonsynonymous SNV R1630T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.002 159336 chr10 23728859 23728859 C A rs575894418 OTUD1 Nonsynonymous SNV P158Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 159337 chr12 56109852 56109852 G C rs545542768 BLOC1S1 Nonsynonymous SNV R6P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.93 159338 chr11 134026944 134026944 G T rs35943668 NCAPD3 Nonsynonymous SNV H1269Q 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Benign 0.001 159339 chr11 74559225 74559225 G A rs761489735 XRRA1 Nonsynonymous SNV R460C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 159340 chr12 57496651 57496651 G T rs144530864 STAT6 Synonymous SNV A312A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 11.13 159341 chr12 57602539 57602539 G A rs149291689 LRP1 Synonymous SNV T4028T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 159342 chr12 57995341 57995341 G A PIP4K2C Synonymous SNV E358E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 159343 chr2 237123152 237123152 G T ASB18 Nonsynonymous SNV D318E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 159344 chr12 58209799 58209799 C A rs148203782 AVIL Nonsynonymous SNV A9S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.2 159345 chr2 238274560 238274560 G A rs146355600 COL6A3 Synonymous SNV H1266H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.019 159346 chr2 238277211 238277211 C T rs111231885 COL6A3 Nonsynonymous SNV R1025Q 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 11.84 159347 chr12 132633423 132633423 C A NOC4L Nonsynonymous SNV T295N 0.003 0 0 0 3 0 0 0 1 0 0 0 23.8 159348 chr2 231738162 231738162 - G rs772575176 ITM2C Frameshift insertion S54Lfs*39 0.001 0 0 0 1 0 0 0 0 0 0 0 159349 chr2 233899235 233899235 G A rs765031026 NEU2 Nonsynonymous SNV R204H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 159350 chr12 14946710 14946710 G A rs369597060 WBP11 Nonsynonymous SNV H290Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.7 159351 chr12 16111231 16111231 G A rs114053981 DERA Nonsynonymous SNV R80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 159352 chr12 6974392 6974392 C T USP5 Synonymous SNV C821C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 159353 chr12 7046220 7046220 C T rs782778482 ATN1 Nonsynonymous SNV A597V 0 0 0.01 0 0 0 0 3 0 0 0 0 5.39 159354 chr12 21636336 21636336 C T rs746495645 RECQL Nonsynonymous SNV S225N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 31 159355 chr12 7521535 7521535 A G rs145256685 CD163L1 Nonsynonymous SNV S1366P 0.005 0.003 0.014 0 6 1 0 4 0 0 0 0 4.162 159356 chr11 2337886 2337886 C T TSPAN32 Synonymous SNV T236T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.026 159357 chr2 242371116 242371116 T C rs185323681 FARP2 Nonsynonymous SNV F265S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 29.7 159358 chr4 157891963 157891963 C A rs149931440 PDGFC Nonsynonymous SNV Q31H 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 4.701 159359 chr11 26529772 26529772 A C ANO3 Nonsynonymous SNV K39T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 159360 chr11 89902156 89902156 A C rs137872752 NAALAD2 Synonymous SNV I413I 0.003 0 0 0 3 0 0 0 0 0 0 0 3.536 159361 chr11 93463070 93463070 A T rs183120281 CEP295 Nonsynonymous SNV K2534N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.33 159362 chr11 31327300 31327300 G A rs750636009 DCDC1 Synonymous SNV L206L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.5 159363 chr11 77301253 77301253 C T rs112739865 AQP11 Synonymous SNV P72P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.82 159364 chr11 3239715 3239715 G C rs772877053 MRGPRG Nonsynonymous SNV P110R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.7 159365 chr2 242066420 242066420 G A rs753013231 PASK Nonsynonymous SNV S637L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.226 159366 chr4 175898476 175898476 T C rs768184586 ADAM29 Synonymous SNV D600D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.597 159367 chr2 242794410 242794410 G A rs55667829 PDCD1 Synonymous SNV L178L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.549 159368 chr3 1414574 1414574 A G rs199530414 CNTN6 Nonsynonymous SNV K470R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.67 159369 chr12 113758263 113758263 A G rs371853557 SLC8B1 Synonymous SNV I189I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.743 159370 chr12 114362510 114362512 TTC - rs764565638 RBM19 K765del 0.008 0.005 0 2 9 2 0.005 0 1 0 0 0 159371 chr12 420070 420070 G C rs191475834 KDM5A Nonsynonymous SNV S1066C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 159372 chr12 96641083 96641083 C T rs140509497 ELK3 Synonymous SNV D191D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.205 159373 chr11 82985725 82985725 A G rs201166481 CCDC90B Nonsynonymous SNV I13T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28 159374 chr12 104480636 104480636 G A rs201165064 HCFC2 Nonsynonymous SNV A359T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.9 159375 chr12 121416663 121416663 G A rs137853247 HNF1A Nonsynonymous SNV G31D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 159376 chr3 11300780 11300780 G C rs2067466 HRH1 Nonsynonymous SNV K19N 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 Benign 18.56 159377 chr12 4873163 4873163 G - GALNT8 V515Ffs*23 0.003 0 0 2 3 0 0.005 0 0 0 0 0 159378 chr12 4873165 4873166 TC - GALNT8 P516Rfs*11 0.003 0 0 2 3 0 0.005 0 0 0 0 0 159379 chr12 122255723 122255723 A G SETD1B Nonsynonymous SNV S1111G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.82 159380 chr3 12616478 12616478 C T MKRN2 Nonsynonymous SNV A234V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 159381 chr12 48920122 48920122 G A rs377563477 OR8S1 Synonymous SNV K236K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.34 159382 chr12 49218117 49218117 G A rs756402786 CACNB3 Nonsynonymous SNV R82H 0.002 0 0 0 2 0 0 0 0 0 0 0 25 159383 chr11 46914574 46914574 C T LRP4 Synonymous SNV L549L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 159384 chr3 14499489 14499489 G A rs747629906 SLC6A6 Nonsynonymous SNV D211N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 159385 chr13 111521697 111521697 G A rs184674173 LINC00346 0 0 0.003 0 0 0 0 1 0 0 0 0 4.139 159386 chr13 113864369 113864369 C G rs377650868 CUL4A Synonymous SNV T77T 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 7.737 159387 chr3 14949188 14949188 G T rs763099234 FGD5 Synonymous SNV R1102R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.48 159388 chr13 114523972 114523972 C T rs755543652 GAS6 Synonymous SNV A634A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.91 159389 chr11 96104276 96104276 T C rs141178855 CCDC82 Synonymous SNV A370A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.365 159390 chr12 113515272 113515272 G T rs116800762 DTX1 Synonymous SNV S101S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 11.25 159391 chr12 113603690 113603690 C T rs146087049 DDX54 Nonsynonymous SNV R521H 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 159392 chr12 113610294 113610294 G A rs75658961 DDX54 Synonymous SNV L381L 0.004 0 0 0 5 0 0 0 0 0 0 0 6.092 159393 chr12 113612859 113612859 C T rs148961522 DDX54 Nonsynonymous SNV V286M 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely pathogenic 28.6 159394 chr12 113645916 113645916 C T rs60284450 IQCD Nonsynonymous SNV R19K 0.004 0 0 0 5 0 0 0 0 0 0 0 2.231 159395 chr12 113830923 113830923 G A rs776756863 SDS Synonymous SNV C270C 0.003 0 0 0 3 0 0 0 0 0 0 0 10.73 159396 chr12 117287190 117287190 C T rs16947049 RNFT2 Synonymous SNV V424V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.87 159397 chr3 27759116 27759116 G A rs370649974 EOMES Synonymous SNV L521L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.678 159398 chr12 117685255 117685255 G A rs41410247 NOS1 Synonymous SNV L571L 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 9.581 159399 chr13 39587578 39587578 G A PROSER1 Nonsynonymous SNV P582L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 159400 chr12 15262237 15262237 A C RERG Nonsynonymous SNV L117R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.4 159401 chr12 109605775 109605775 C T rs756056275 ACACB Synonymous SNV F287F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 17.37 159402 chr3 42980421 42980421 C T KRBOX1 Stop gain Q12X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 159403 chr12 110206630 110206630 C T rs201569829 FAM222A Nonsynonymous SNV P299L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.2 159404 chr13 46952078 46952078 T C rs149590941 RUBCNL Nonsynonymous SNV N4S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 1.565 159405 chr12 57007788 57007788 T C rs199824624 BAZ2A Nonsynonymous SNV T289A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 159406 chr12 57431698 57431698 C T rs144320005 MYO1A Nonsynonymous SNV R639Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 159407 chr13 50589762 50589762 G T rs140212682 KCNRG Nonsynonymous SNV V45F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 159408 chr11 5424001 5424001 C T OR51J1 Nonsynonymous SNV H59Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 159409 chr12 27934075 27934075 C T rs757102815 KLHL42 Nonsynonymous SNV A271V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 159410 chr12 58019236 58019236 C T rs142736906 SLC26A10 Nonsynonymous SNV A506V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 159411 chr12 58021913 58021913 G A rs151177784 B4GALNT1 Synonymous SNV L324L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 9.955 159412 chr12 58190185 58190185 T A rs146777264 TSFM Nonsynonymous SNV L266H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 24.8 159413 chr3 46873383 46873383 C A rs750773723 PRSS42P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 159414 chr3 47046004 47046004 T C rs754898066 NBEAL2 Nonsynonymous SNV I2039T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 159415 chr13 95273475 95273475 A G rs780745777 GPR180 Nonsynonymous SNV I294V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 159416 chr14 100795869 100795869 C T rs145556108 SLC25A47 Nonsynonymous SNV R126W 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 23.9 159417 chr14 101318958 101318958 C T rs144981880 MEG3 0 0 0.003 0 0 0 0 1 0 0 0 0 9.302 159418 chr14 101533093 101533093 C T rs58834075 MIR656 0 0 0.037 0 0 0 0 11 0 0 0 0 18.5 159419 chr11 124740559 124740559 C T rs151168595 ROBO3 Nonsynonymous SNV T323M 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 Benign/Likely benign 23.4 159420 chr3 50402546 50402546 G A CACNA2D2 Synonymous SNV S1056S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 159421 chr12 122691667 122691667 G A rs147517845 B3GNT4 Nonsynonymous SNV R265H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.886 159422 chr14 103589149 103589149 A G rs757768116 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 7.481 159423 chr12 49425575 49425575 C T rs199895011 KMT2D Nonsynonymous SNV V4305I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign/Likely benign 16.2 159424 chr12 77421869 77421869 C G rs36110778 E2F7 Nonsynonymous SNV R645T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 0.007 159425 chr3 52727202 52727202 G - rs780473007 GNL3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 159426 chr12 80749570 80749570 G A rs377364362 OTOGL Nonsynonymous SNV G1874D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 159427 chr3 93803151 93803151 G C NSUN3 Nonsynonymous SNV G108A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 19.46 159428 chr12 89916737 89916737 A C GALNT4, POC1B-GALNT4 Nonsynonymous SNV I530M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.882 159429 chr11 134253607 134253607 G A rs376752569 B3GAT1 Synonymous SNV D196D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.35 159430 chr11 1462087 1462087 G A rs376857896 BRSK2 Synonymous SNV T114T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.62 159431 chr3 112538691 112538691 A T rs201532373 CD200R1L Nonsynonymous SNV V244E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 159432 chr3 112718344 112718344 G A rs775325808 GTPBP8 Nonsynonymous SNV V207M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 159433 chr11 57145297 57145297 G A rs201135712 PRG3 Nonsynonymous SNV R174W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 159434 chr14 21828625 21828625 C T rs147874876 SUPT16H Synonymous SNV L708L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.85 159435 chr14 21991421 21991421 G A rs146143257 SALL2 Nonsynonymous SNV T812I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.535 159436 chr11 5730417 5730417 G C rs371728648 TRIM22 Nonsynonymous SNV G342R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 159437 chr13 101184585 101184585 C G rs768743482 GGACT Synonymous SNV L87L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.346 159438 chr13 101288946 101288946 G A rs151149241 TMTC4 Synonymous SNV L218L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 10.93 159439 chr13 101290208 101290208 T C TMTC4 Synonymous SNV V140V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.308 159440 chr3 100472691 100472691 C T rs371336359 ABI3BP Synonymous SNV A933A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.93 159441 chr13 103397589 103397589 G A CCDC168 Stop gain Q1820X 0.002 0 0 0 2 0 0 0 0 0 0 0 0.541 159442 chr3 101540612 101540612 C T rs756581032 NXPE3 Synonymous SNV S429S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 159443 chr12 22627803 22627803 C A rs534276705 C2CD5 Nonsynonymous SNV G642V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 26 159444 chr14 24805462 24805462 - G rs531266348 RIPK3 Frameshift insertion P493Tfs*9 0.005 0 0.014 1 6 0 0.003 4 0 0 0 0 159445 chr3 122433206 122433206 A C PARP14 Synonymous SNV S1310S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.002 159446 chr12 57167907 57167907 G A rs753743925 HSD17B6 Nonsynonymous SNV A91T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.034 159447 chr3 113697176 113697176 G A rs145896589 CCDC191 Synonymous SNV Y799Y 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.01 159448 chr3 113847574 113847574 G C DRD3 Nonsynonymous SNV L398V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 159449 chr14 34243638 34243638 T C rs764733488 NPAS3 Synonymous SNV H286H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.478 159450 chr11 61643645 61643645 G A rs576235801 FADS3 Synonymous SNV N366N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 159451 chr14 45633647 45633647 A G rs148810507 FANCM Nonsynonymous SNV D530G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.8 159452 chr3 121417745 121417745 C A GOLGB1 Nonsynonymous SNV S462I 0.001 0 0 0 1 0 0 0 0 0 0 0 19 159453 chr11 62291125 62291125 G A rs140469618 AHNAK Synonymous SNV A3588A 0.003 0.005 0.014 1 3 2 0.003 4 0 0 0 0 Benign 6.534 159454 chr3 121435698 121435698 T C rs116046497 GOLGB1 Nonsynonymous SNV T312A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 159455 chr12 53776865 53776865 C T rs376884602 SP1 Synonymous SNV G330G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.465 159456 chr3 123348356 123348356 C T rs141467675 MYLK Synonymous SNV K1517K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.32 159457 chr12 66703740 66703740 G A rs201690544 HELB Synonymous SNV V344V 0.003 0 0 0 4 0 0 0 0 0 0 0 4.447 159458 chr5 145493864 145493864 T C rs141790396 LARS Synonymous SNV K1066K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 9.888 159459 chr14 52781927 52781927 A T rs764038744 PTGER2 Nonsynonymous SNV N221Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 159460 chr3 123650354 123650354 C T rs116262065 CCDC14 Synonymous SNV L330L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.65 159461 chr5 148989259 148989259 G A rs200166388 ARHGEF37 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 24.1 159462 chr12 71977964 71977964 A C LGR5 Nonsynonymous SNV Y701S 0.003 0 0 0 4 0 0 0 0 0 0 0 24.2 159463 chr3 128356845 128356845 T C rs146983075 RPN1 Nonsynonymous SNV T144A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.23 159464 chr12 57588838 57588838 C T rs35967775 LRP1 Synonymous SNV D2754D 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 18.87 159465 chr12 49392134 49392134 G C rs562043027 DDN Synonymous SNV P175P 0.007 0 0 0 8 0 0 0 0 0 0 0 0.43 159466 chr12 57598494 57598494 C T rs761861718 LRP1 Nonsynonymous SNV T3719M 0.003 0 0 0 3 0 0 0 0 0 0 0 8.019 159467 chr3 129234352 129234352 C T rs368690956 IFT122 Nonsynonymous SNV R949C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 159468 chr11 65617024 65617024 G A rs775203949 SNX32 Nonsynonymous SNV D38N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 159469 chr14 69792119 69792119 A G rs746448970 GALNT16 Nonsynonymous SNV D167G 0 0 0.003 0 0 0 0 1 0 0 0 0 31 159470 chr3 155485450 155485450 G A rs200279997 C3orf33 Nonsynonymous SNV R111C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.475 159471 chr3 130452431 130452431 C A rs143152253 PIK3R4 Nonsynonymous SNV A471S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 159472 chr12 8998044 8998044 G A A2ML1 Nonsynonymous SNV G4R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 159473 chr14 71275553 71275553 G A rs755980050 MAP3K9 Synonymous SNV T112T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 159474 chr12 66639013 66639013 C T rs199538395 IRAK3 Nonsynonymous SNV R368W 0.003 0 0 0 3 0 0 0 0 0 0 0 25 159475 chr11 66055104 66055104 - G rs774237767 YIF1A Frameshift insertion R131Pfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 159476 chr11 66083987 66083987 G A rs201032194 CD248 Nonsynonymous SNV A171V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 159477 chr14 74343713 74343713 C G rs746150118 PTGR2 Nonsynonymous SNV L121V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 159478 chr5 161117338 161117338 G A rs150866100 GABRA6 Nonsynonymous SNV V269I 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 Benign 28 159479 chr14 75248601 75248601 A T YLPM1 Nonsynonymous SNV M619L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 159480 chr11 66358102 66358102 G A rs769058431 CCDC87 Synonymous SNV G795G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 159481 chr5 161324293 161324293 C A rs767535362 GABRA1 Synonymous SNV T412T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.87 159482 chr14 75558152 75558152 C T rs34648344 NEK9 Nonsynonymous SNV G767S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 15.42 159483 chr13 77526626 77526626 T G ACOD1 Synonymous SNV S5S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.25 159484 chr12 52799938 52799938 C A KRT82 Nonsynonymous SNV G42C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 159485 chr12 77216277 77216277 A G rs377127641 ZDHHC17 Nonsynonymous SNV N278S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 7.224 159486 chr13 99457349 99457349 T C rs370665021 DOCK9 Nonsynonymous SNV N1846D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25 159487 chr11 22291880 22291880 C A ANO5 Nonsynonymous SNV R640S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 159488 chr13 103399175 103399175 A G CCDC168 Nonsynonymous SNV I1291T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.32 159489 chr12 8667856 8667856 T G rs149172096 CLEC4D Nonsynonymous SNV L18R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.002 159490 chr3 158387350 158387350 T C rs142211639 LXN Nonsynonymous SNV Q81R 0.009 0.003 0.003 3 10 1 0.008 1 0 0 0 0 12.4 159491 chr12 9002809 9002809 G A rs192221816 A2ML1 Nonsynonymous SNV E234K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 13.57 159492 chr14 96129968 96129968 C A rs200092924 TCL6 0 0 0.003 0 0 0 0 1 0 0 0 0 2.214 159493 chr3 166960317 166960317 C T rs148568021 ZBBX Nonsynonymous SNV G722D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 159494 chr3 167051659 167051659 G T rs113571439 ZBBX Nonsynonymous SNV Q215K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 159495 chr13 113030720 113030720 C T rs146245335 SPACA7 Synonymous SNV D7D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.71 159496 chr14 105207245 105207245 C G rs202160058 ADSS1 Synonymous SNV L13L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.164 159497 chr12 56233467 56233467 G A rs144496096 MMP19 Synonymous SNV D193D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.674 159498 chr12 56234479 56234479 C T rs375168504 MMP19 Synonymous SNV S164S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.58 159499 chr15 101099325 101099325 G A PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.032 159500 chr15 101438334 101438334 G A rs763546758 ALDH1A3 Nonsynonymous SNV R169Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 159501 chr3 179051480 179051480 C G ZNF639 Nonsynonymous SNV S243C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 159502 chr12 56862826 56862831 TCAGTT - rs767380908 SPRYD4 S31_F32del 0.001 0 0 0 1 0 0 0 0 0 0 0 159503 chr3 195501042 195501042 C T rs768953963 MUC4 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 159504 chr15 24924208 24924208 G A rs760812422 NPAP1 Nonsynonymous SNV S1065N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.653 159505 chr11 44069907 44069907 T C rs769330956 ACCSL Synonymous SNV Y107Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.003 159506 chr15 28431888 28431888 T A rs367704254 HERC2 Nonsynonymous SNV Y2887F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.91 159507 chr11 45203797 45203797 C T PRDM11 Synonymous SNV C40C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 159508 chr15 31197333 31197333 C A FAN1 Nonsynonymous SNV A156E 0 0 0.003 0 0 0 0 1 0 0 0 0 26 159509 chr3 185639804 185639804 A G rs145444665 TRA2B Synonymous SNV P111P 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 8.507 159510 chr4 514983 514983 C T rs144656165 PIGG Nonsynonymous SNV T285M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 9.106 159511 chr15 31619729 31619729 C T KLF13 Nonsynonymous SNV P105L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 159512 chr11 46685591 46685591 T C rs370896560 ATG13 Synonymous SNV P278P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 4.654 159513 chr13 36245048 36245048 A G NBEA Nonsynonymous SNV T714A 0.006 0.003 0 0 7 1 0 0 0 0 0 0 9.266 159514 chr13 111117923 111117923 C T rs200735885 COL4A2 Nonsynonymous SNV P650S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 159515 chr11 92088151 92088151 T C rs76869520 FAT3 Nonsynonymous SNV L958P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 159516 chr4 1087313 1087313 T C rs57677641 RNF212 Nonsynonymous SNV S246G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.488 159517 chr11 92577659 92577659 G T rs75081660 FAT3 Nonsynonymous SNV S3709I 0.005 0.008 0.01 5 6 3 0.013 3 0 0 0 0 Benign 18.23 159518 chr13 111995169 111995169 C T rs45474991 TEX29 Synonymous SNV S102S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.58 159519 chr13 113333589 113333589 C T rs147355248 ATP11AUN 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 5.249 159520 chr14 22038566 22038566 A G rs142424951 OR10G3 Nonsynonymous SNV F104L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 159521 chr11 47806519 47806519 C G NUP160 Nonsynonymous SNV L1315F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 159522 chr6 26056548 26056548 C G H1-2 Nonsynonymous SNV G37R 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 24.5 159523 chr13 113813005 113813005 C G rs148527063 PROZ Nonsynonymous SNV L11V 0.008 0 0 0 9 0 0 0 1 0 0 0 13.52 159524 chr4 1980527 1980527 C T rs760185069 NSD2 Nonsynonymous SNV A1330V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.5 159525 chr13 114164648 114164648 G A rs190904048 TMCO3 Synonymous SNV T314T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.6 159526 chr13 114434282 114434282 C T rs766150912 GRK1 Nonsynonymous SNV A387V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 159527 chr12 100603880 100603880 C T ACTR6 Stop gain R137X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 159528 chr12 7585039 7585039 T C rs375858210 CD163L1 Nonsynonymous SNV N257D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 159529 chr12 7636090 7636090 C A CD163 Synonymous SNV G987G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 159530 chr12 7651630 7651630 A C rs754590091 CD163 Nonsynonymous SNV S204R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.59 159531 chr12 1040418 1040418 T C rs200499443 RAD52 Nonsynonymous SNV I52V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.27 159532 chr12 10658858 10658858 A G rs61734592 EIF2S3B Synonymous SNV G119G 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 0.156 159533 chr12 10659799 10659799 T C rs57965252 EIF2S3B Nonsynonymous SNV V433A 0.007 0.01 0.007 3 8 4 0.008 2 0 0 0 0 14.12 159534 chr11 58034993 58034993 C T rs763716831 OR10W1 Nonsynonymous SNV R113H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 159535 chr12 108917298 108917298 G A rs764796467 SART3 Nonsynonymous SNV P943L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.31 159536 chr6 36287269 36287269 C T rs376531620 BNIP5 Nonsynonymous SNV R596H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.65 159537 chr14 35242864 35242872 GTTTTCCTC - rs753424573 BAZ1A E988_N990del 0.005 0 0 0 6 0 0 0 0 0 0 0 159538 chr4 3076607 3076615 CAGCAGCAG - HTT Q36_Q38del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 159539 chr14 44974189 44974201 CGGGGGCCTCCTC - rs767704997 FSCB E664Lfs*25 0.001 0 0 1 1 0 0.003 0 0 0 0 0 159540 chr14 44974203 44974297 GCTGGTGGAGGCTGAACTTCAGCGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGCGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGC - FSCB Stop gain A632* 0.001 0 0 0 1 0 0 0 0 0 0 0 159541 chr15 53957892 53957892 C T rs78493456 WDR72 Synonymous SNV V613V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 6.076 159542 chr15 53992064 53992064 G A rs540530291 WDR72 Nonsynonymous SNV L550F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 159543 chr12 111051995 111051995 C T rs772390489 TCTN1 Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 159544 chr4 17609182 17609185 CTTA - LAP3 L511Ffs*38 0 0 0 1 0 0 0.003 0 0 0 0 0 159545 chr12 97311449 97311449 C T rs372703485 NEDD1 Synonymous SNV S5S 0.007 0 0 0 8 0 0 0 0 0 0 0 18.13 159546 chr14 51239181 51239181 G A rs61755581 NIN Synonymous SNV F273F 0.008 0.01 0.017 5 9 4 0.013 5 0 0 0 0 Likely benign 10.39 159547 chr12 113379501 113379501 C T OAS3 Nonsynonymous SNV R102W 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.74 159548 chr13 47266711 47266711 C T rs202211483 LRCH1 Nonsynonymous SNV S352L 0.003 0 0 0 4 0 0 0 0 0 0 0 33 159549 chr13 49885059 49885059 A G rs141087677 CAB39L Nonsynonymous SNV I302T 0.003 0 0 0 4 0 0 0 0 0 0 0 28 159550 chr13 103385309 103385309 A G rs80279368 CCDC168 Nonsynonymous SNV V5913A 0.004 0.003 0.007 0 5 1 0 2 0 0 1 0 0.053 159551 chr13 103386496 103386496 T G rs7988702 CCDC168 Synonymous SNV P5517P 0.004 0.003 0.007 0 5 1 0 2 0 0 1 0 0.132 159552 chr13 103387667 103387667 G A rs79455872 CCDC168 Nonsynonymous SNV S5127L 0.004 0.003 0.007 0 5 1 0 2 0 0 1 0 22.7 159553 chr15 65108118 65108118 C T PIF1 Synonymous SNV R632R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.939 159554 chr4 8869752 8869752 G A rs541897294 HMX1 Synonymous SNV A238A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.251 159555 chr13 103514939 103514939 C T rs4150316 BIVM-ERCC5, ERCC5 Synonymous SNV H480H 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign/Likely benign 10.63 159556 chr14 60451876 60451876 A T rs77067896 LRRC9 Nonsynonymous SNV L715F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.96 159557 chr15 65425944 65425944 G A rs770671394 PDCD7 Nonsynonymous SNV P59L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.77 159558 chr14 60591199 60591199 A T rs3742642 PCNX4 Nonsynonymous SNV Q536H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 2.576 159559 chr12 121622550 121622550 G A rs28360460 P2RX7 Nonsynonymous SNV R578Q 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 159560 chr15 66807942 66807942 G A rs140891720 ZWILCH Nonsynonymous SNV E94K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.2 159561 chr12 122018733 122018734 TG - rs575373073 KDM2B T28Sfs*8 0.002 0.003 0 0 2 1 0 0 0 0 0 0 159562 chr12 122248648 122248648 C T rs544961879 SETD1B Synonymous SNV G599G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.994 159563 chr13 113772772 113772772 G A rs77121822 F7 Nonsynonymous SNV R200Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.5 159564 chr15 72492922 72492922 C T rs141505399 PKM Nonsynonymous SNV R387H 0 0 0.003 0 0 0 0 1 0 0 0 0 30 159565 chr15 72968522 72968522 T C rs61528429 HIGD2B Nonsynonymous SNV Y65C 0.009 0 0.003 8 10 0 0.021 1 0 0 0 0 13.97 159566 chr13 114781720 114781720 T C rs201341686 RASA3 Nonsynonymous SNV I380V 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 159567 chr15 75941863 75941863 C T rs28363828 SNX33 Synonymous SNV H140H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 7.37 159568 chr4 39233798 39233798 A G rs772687020 WDR19 Nonsynonymous SNV N560S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.94 159569 chr14 21899776 21899776 G A rs75191413 CHD8 Synonymous SNV F9F 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign/Likely benign 6.139 159570 chr15 78475072 78475072 G A rs142493556 ACSBG1 Nonsynonymous SNV P236L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.357 159571 chr15 79586865 79586865 G A rs55824566 ANKRD34C Synonymous SNV L413L 0.005 0 0.01 0 6 0 0 3 0 0 0 0 0.066 159572 chr12 132426291 132426291 G C rs150359622 PUS1 Synonymous SNV L305L 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 Benign/Likely benign 0.529 159573 chr4 72618322 72618322 C T rs372306843 GC Synonymous SNV T436T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.74 159574 chr4 48385708 48385708 A C SLAIN2 Nonsynonymous SNV T423P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 159575 chr14 105833679 105833679 A G rs8010888 PACS2 Nonsynonymous SNV T185A 0.009 0 0 0 10 0 0 0 0 0 0 0 2.366 159576 chr14 105843179 105843179 C G rs4074004 PACS2 Synonymous SNV T292T 0.008 0 0 0 9 0 0 0 0 0 0 0 13.87 159577 chr14 105848891 105848891 T C rs4076933 PACS2 Synonymous SNV L497L 0.009 0 0 0 10 0 0 0 0 0 0 0 0.038 159578 chr14 105958957 105958957 G A rs112340345 TEDC1 Nonsynonymous SNV M157I 0.003 0 0 0 4 0 0 0 0 0 0 0 0.195 159579 chr15 85186879 85186879 T G WDR73 Nonsynonymous SNV Q320P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 159580 chr4 68528909 68528909 T C rs570633528 UBA6 Nonsynonymous SNV M329V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 159581 chr14 27066580 27066580 G A rs145050329 NOVA1 Synonymous SNV D21D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.225 159582 chr4 81967703 81967703 G A rs137896169 BMP3 Synonymous SNV K376K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 3.44 159583 chr6 100009499 100009499 C T rs142699138 CCNC Synonymous SNV T66T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.24 159584 chr12 29649118 29649118 T C rs779763167 OVCH1 Nonsynonymous SNV S93G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.088 159585 chr6 107391561 107391561 G C rs149698401 BEND3 Synonymous SNV L278L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.337 159586 chr4 96163631 96163631 C T rs145155041 UNC5C Nonsynonymous SNV D353N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23.4 159587 chr4 99355117 99355117 G A RAP1GDS1 Nonsynonymous SNV G400S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 159588 chr13 76382107 76382107 G A rs752045166 LMO7 Nonsynonymous SNV R236K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.167 159589 chr4 86863318 86863318 G A rs750510635 ARHGAP24 Nonsynonymous SNV R71Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 159590 chr13 77785311 77785311 A G MYCBP2 Nonsynonymous SNV V1136A 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 159591 chr4 88723870 88723870 G A rs748424288 IBSP Nonsynonymous SNV R57Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 159592 chr15 24921740 24921740 A G rs762073634 NPAP1 Synonymous SNV T242T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 159593 chr15 25602024 25602024 T C rs34670662 UBE3A Synonymous SNV E532E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.625 159594 chr4 89649873 89649873 A G rs924055828 FAM13A-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 3.782 159595 chr4 109782121 109782121 G A rs202116700 COL25A1 Nonsynonymous SNV R383C 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 29.1 159596 chr11 60184319 60184319 C T rs147367847 MS4A14 Synonymous SNV A609A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.68 159597 chr6 117715381 117715381 A G rs56274823 ROS1 Nonsynonymous SNV S370P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.7 159598 chr6 125284093 125284093 C G RNF217 Nonsynonymous SNV P135A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.2 159599 chr12 50467532 50467532 C A rs142317660 ASIC1 Synonymous SNV A55A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 1.424 159600 chr14 50579342 50579342 C G rs200646804 VCPKMT Nonsynonymous SNV K222N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.4 159601 chr6 132910243 132910243 G T rs142528485 TAAR5 Nonsynonymous SNV L195M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.58 159602 chr16 15857726 15857726 C T rs201256839 MYH11 Synonymous SNV S352S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.99 159603 chr14 104028294 104028294 T C rs369702988 BAG5 Synonymous SNV Q17Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.007 159604 chr6 132910432 132910432 G A rs147580046 TAAR5 Nonsynonymous SNV R132C 0 0 0 1 0 0 0.003 0 0 0 0 0 30 159605 chr15 38988860 38988860 C T rs769387175 LINC02694 0.002 0 0 0 2 0 0 0 0 0 0 0 12.77 159606 chr6 133044987 133044987 C T rs147487402 VNN3 Synonymous SNV G129G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.49 159607 chr6 133078865 133078865 A G rs74854525 VNN2 Nonsynonymous SNV L53P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 159608 chr11 86176155 86176155 G A rs374593643 ME3 Synonymous SNV C299C 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 10.85 159609 chr6 136680994 136680994 C T MAP7 Nonsynonymous SNV G532S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 159610 chr12 52377861 52377861 A T ACVR1B Nonsynonymous SNV Y297F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 159611 chr16 19547277 19547277 A G rs766354418 CCP110 Nonsynonymous SNV N96D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 159612 chr14 105996103 105996103 C T rs587624495 TMEM121 Nonsynonymous SNV S311L 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 27.8 159613 chr12 52799675 52799675 G T rs143399825 KRT82 Nonsynonymous SNV N129K 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 26.1 159614 chr15 41797058 41797058 C T rs142798669 LTK Nonsynonymous SNV R548H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.7 159615 chr4 123856880 123856880 C T rs201751275 SPATA5 Nonsynonymous SNV P386S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25 159616 chr14 75537903 75537903 G A rs761878883 ZC2HC1C Synonymous SNV E209E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.065 159617 chr14 62550972 62550972 C T rs368479627 SYT16 Nonsynonymous SNV T317M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 159618 chr12 10034220 10034220 C T rs562906801 KLRF2 Nonsynonymous SNV T9M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.054 159619 chr16 25268114 25268114 C T rs780419562 ZKSCAN2 Nonsynonymous SNV S112N 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 159620 chr14 77880295 77880295 G A rs757881817 NOXRED1 Nonsynonymous SNV R111W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 159621 chr14 64498017 64498017 A G rs45590135 SYNE2 Nonsynonymous SNV E2388G 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign/Likely benign 10.55 159622 chr16 2825457 2825457 C T rs753146217 ELOB Nonsynonymous SNV R80Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 159623 chr15 43819163 43819163 A G rs755182861 MAP1A Nonsynonymous SNV N1831S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 159624 chr4 169799479 169799479 T G rs587780760 PALLD Nonsynonymous SNV L146R 0 0 0.007 3 0 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.21 159625 chr11 65350961 65350961 G A EHBP1L1 Nonsynonymous SNV G940R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.52 159626 chr4 174253276 174253276 - TCC HMGB2 E197_D198insE 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 159627 chr14 89078090 89078090 G A rs144843433 ZC3H14 Nonsynonymous SNV E306K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24.4 159628 chr15 45393426 45393429 GAAC - rs530719719 DUOX2 F966Sfs*29 0.003 0 0 0 4 0 0 0 0 0 0 0 159629 chr14 91633956 91633956 C T rs146234967 DGLUCY Nonsynonymous SNV S134F 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 9.274 159630 chr16 3017379 3017379 G A rs575798890 KREMEN2 Synonymous SNV A305A 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 3.434 159631 chr14 21876627 21876627 G C CHD8 Nonsynonymous SNV I858M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 159632 chr16 30495264 30495264 T C rs142620368 ITGAL Nonsynonymous SNV I197T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 159633 chr4 154624709 154624709 T C rs139227237 TLR2 Nonsynonymous SNV F217S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24 159634 chr15 45710803 45710803 C T SPATA5L1 Nonsynonymous SNV P673S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.221 159635 chr14 93107614 93107614 C T RIN3 Stop gain Q83X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 159636 chr12 56216944 56216944 C T rs371856651 DNAJC14 Nonsynonymous SNV R515Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 159637 chr12 56528168 56528168 C T rs149720231 ESYT1 Nonsynonymous SNV R540W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 159638 chr12 57422967 57422967 C T rs147849120 MYO1A Nonsynonymous SNV R985Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 159639 chr16 333343 333343 G A rs760510665 PDIA2 Synonymous SNV E58E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.116 159640 chr14 95934248 95934248 C T rs760769434 SYNE3 Nonsynonymous SNV M67I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.735 159641 chr12 112429572 112429572 G C TMEM116 Nonsynonymous SNV A67G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 159642 chr6 168434583 168434583 G A rs781427087 KIF25 Synonymous SNV A63A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.37 159643 chr6 168708794 168708794 C T rs147201109 DACT2 Nonsynonymous SNV R378Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.7 159644 chr15 63356291 63356291 C T TPM1 Synonymous SNV Y231Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 159645 chr16 47703148 47703148 A G rs987026344 PHKB Nonsynonymous SNV H817R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 159646 chr14 35515738 35515738 G A rs139171323 FAM177A1 Synonymous SNV T23T 0.007 0.005 0 3 8 2 0.008 0 0 0 0 0 13.46 159647 chr6 170871044 170871046 CAA - TBP Q75del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 159648 chr12 6883103 6883103 C T LAG3 Synonymous SNV A149A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.55 159649 chr14 39627568 39627568 T C TRAPPC6B Nonsynonymous SNV D63G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 159650 chr15 31776210 31776210 - GGC OTUD7A A689_T690insA 0.001 0 0 0 1 0 0 0 0 0 0 0 159651 chr5 169512 169512 G A rs75579589 PLEKHG4B Synonymous SNV R1178R 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Benign 5.428 159652 chr12 1221435 1221435 A G rs150360885 ERC1 Nonsynonymous SNV K458E 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 14.85 159653 chr5 453888 453888 G A rs62001019 EXOC3 Synonymous SNV V256V 0.005 0.008 0.014 1 6 3 0.003 4 0 0 1 0 9.864 159654 chr5 31799658 31799658 G A rs570880377 PDZD2 Synonymous SNV R101R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.236 159655 chr5 476510 476510 G A rs77470384 SLC9A3-AS1 0.005 0.008 0.014 1 6 3 0.003 4 0 0 1 0 7.13 159656 chr5 476691 476691 C T rs74468804 SLC9A3 Synonymous SNV T610T 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 11.4 159657 chr16 67576872 67576872 G C rs147671462 RIPOR1 Nonsynonymous SNV S732T 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 5.018 159658 chr16 682740 682740 G A rs144204927 WFIKKN1 Synonymous SNV G110G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.244 159659 chr11 76371946 76371946 C G rs139661666 LRRC32 Nonsynonymous SNV E121Q 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.5 159660 chr14 55310817 55310817 T C rs41298442 GCH1 Nonsynonymous SNV K224R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.95 159661 chr15 101593157 101593157 C A LRRK1 Nonsynonymous SNV H1240Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 159662 chr16 72830892 72830892 C T rs150923130 ZFHX3 Nonsynonymous SNV E983K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 159663 chr16 72992600 72992602 TCC - rs769426326 ZFHX3 E487del 0 0 0.003 0 0 0 0 1 0 0 0 0 159664 chr16 75241026 75241026 C A rs148293871 CTRB2 Nonsynonymous SNV W5L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 159665 chr5 43245973 43245973 G C rs745593482 NIM1K Nonsynonymous SNV E32D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.614 159666 chr12 9344832 9344832 G A rs142132513 PZP Synonymous SNV I501I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.114 159667 chr5 43506134 43506134 A G C5orf34 Synonymous SNV N216N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.31 159668 chr16 774709 774709 C T rs147606575 CCDC78 Nonsynonymous SNV R246Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 21.9 159669 chr14 64688390 64688390 C T rs35700578 SYNE2 Nonsynonymous SNV R242W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 25.1 159670 chr12 133697104 133697104 T C ZNF891 Synonymous SNV K467K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.593 159671 chr15 86123770 86123770 A T rs114705815 AKAP13 Nonsynonymous SNV Y824F 0.004 0.008 0.003 3 5 3 0.008 1 0 0 0 0 Likely benign 0.006 159672 chr15 40583533 40583533 C G PLCB2 Nonsynonymous SNV G920R 0.004 0 0 0 5 0 0 0 0 0 0 0 5.202 159673 chr16 83994639 83994639 G T OSGIN1 Synonymous SNV P150P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.569 159674 chr14 69993944 69993944 C T rs200024366 PLEKHD1 Nonsynonymous SNV R366W 0.002 0 0.01 0 2 0 0 3 0 0 0 0 34 159675 chr13 103389663 103389663 C G CCDC168 Nonsynonymous SNV A4462P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.421 159676 chr5 43295897 43295897 T C HMGCS1 Nonsynonymous SNV N246D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 159677 chr15 55677832 55677832 T C rs150268501 CCPG1 Synonymous SNV Q47Q 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 12.36 159678 chr16 85743839 85743858 CGTCCAGGTGCTTGTCGTTC - rs767753044 C16orf74 N29Afs*27 0 0 0.003 0 0 0 0 1 0 0 0 0 159679 chr16 86580185 86580185 G A rs566484936 MTHFSD Nonsynonymous SNV S141F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 159680 chr16 86613283 86613283 C T rs185528186 FOXL1 Synonymous SNV V318V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 159681 chr15 91496233 91496233 G A rs149872991 UNC45A Nonsynonymous SNV R648Q 0.012 0.013 0.003 1 14 5 0.003 1 0 0 0 0 23.4 159682 chr12 29474808 29474808 C T rs184375580 FAR2 Nonsynonymous SNV T306M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 159683 chr14 77746176 77746176 C T rs146588608 POMT2 Synonymous SNV A627A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.14 159684 chr7 47342672 47342672 C A TNS3 Nonsynonymous SNV L1111F 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 3.678 159685 chr16 88805022 88805022 C A rs142099589 PIEZO1 Synonymous SNV L196L 0.006 0.003 0.014 2 7 1 0.005 4 0 0 0 0 Benign 11.3 159686 chr5 71615996 71615996 A G rs201321865 MRPS27 Nonsynonymous SNV L18P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.139 159687 chr13 24860435 24860435 C T rs552280580 SPATA13 Synonymous SNV A92A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.83 159688 chr16 88908378 88908378 C A rs370437841 GALNS Synonymous SNV S82S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.137 159689 chr13 25480295 25480295 C T rs75985315 CENPJ Synonymous SNV P627P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.338 159690 chr7 48416078 48416078 G A rs370843534 ABCA13 Synonymous SNV G3748G 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 9.03 159691 chr14 92583881 92583881 C T rs72691104 NDUFB1 Nonsynonymous SNV R34Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 159692 chr15 56155204 56155204 G A rs551018387 NEDD4 Nonsynonymous SNV P541L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 31 159693 chr15 71185268 71185268 G A rs751297011 LRRC49 Nonsynonymous SNV R12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 159694 chr15 56535455 56535455 G T rs779599629 RFX7 Nonsynonymous SNV P10Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 159695 chr12 4737708 4737708 T G rs71579259 AKAP3 Synonymous SNV S120S 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 0.27 159696 chr12 48134477 48134477 C T rs371356808 RAPGEF3 Nonsynonymous SNV V685M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.27 159697 chr16 89724804 89724804 C T rs371667678 SPATA33 Synonymous SNV H31H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.376 159698 chr16 89784389 89784389 G A rs556318875 VPS9D1-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 5.448 159699 chr16 89804624 89804624 G C rs17227424 ZNF276 Nonsynonymous SNV E605D 0.006 0.003 0.02 1 7 1 0.003 6 0 0 0 0 Likely benign 0.457 159700 chr14 94780705 94780705 C T SERPINA6 Nonsynonymous SNV G94D 0.007 0 0 0 8 0 0 0 0 0 0 0 23.5 159701 chr15 74865527 74865527 G A rs139222319 ARID3B Nonsynonymous SNV V227I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 159702 chr15 75221509 75221509 G A COX5A Synonymous SNV R55R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 159703 chr16 1634255 1634255 C T rs776567773 IFT140 Nonsynonymous SNV R441H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.34 159704 chr17 10541621 10541621 G A rs193224181 MYH3 Synonymous SNV G1156G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 159705 chr16 1838694 1838694 G A rs35367930 NUBP2 Nonsynonymous SNV D117N 0.002 0 0 0 2 0 0 0 0 0 0 0 7.525 159706 chr12 50188688 50188690 CTC - NCKAP5L E985del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 159707 chr15 100533361 100533361 C T rs149751208 ADAMTS17 Synonymous SNV A947A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 159708 chr15 79224732 79224732 G A rs149231812 CTSH Synonymous SNV T158T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.209 159709 chr16 1961668 1961668 G A rs371764901 HS3ST6 Nonsynonymous SNV R318W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 159710 chr16 19896590 19896590 - G GPRC5B Frameshift insertion W110Lfs*51 0.001 0 0 2 1 0 0.005 0 0 0 0 0 159711 chr16 2002981 2002981 C G RPL3L Nonsynonymous SNV V87L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.24 159712 chr5 110434448 110434448 C T rs62376783 WDR36 Nonsynonymous SNV A163V 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 Likely benign 22.7 159713 chr16 2070113 2070113 G A rs375002657 NPW Nonsynonymous SNV G71R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.41 159714 chr17 16344523 16344523 - A rs779525016 SNHG29 0 0 0.017 0 0 0 0 5 0 0 0 0 159715 chr12 52639415 52639415 C T rs757364622 KRT7 Nonsynonymous SNV R402W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.2 159716 chr16 22337236 22337236 C T rs374425405 POLR3E Synonymous SNV P465P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.411 159717 chr16 2350120 2350120 C T rs368865276 ABCA3 Synonymous SNV A499A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.98 159718 chr12 53207576 53207576 A G rs372168510 KRT4 Synonymous SNV F89F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 0.329 159719 chr15 89383370 89383370 C T rs375544241 ACAN Synonymous SNV D194D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.34 159720 chr12 53589425 53589425 T C rs374892274 ITGB7 Synonymous SNV A352A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 3.023 159721 chr5 112769444 112769444 G A rs765308693 TSSK1B Nonsynonymous SNV R365W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 159722 chr16 2816210 2816210 C T rs751683436 SRRM2 Nonsynonymous SNV P1894L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 159723 chr14 100996214 100996214 G A WDR25 Nonsynonymous SNV G233S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 159724 chr5 114916331 114916331 C A TICAM2, TMED7-TICAM2 Nonsynonymous SNV R208I 0.001 0 0 0 1 0 0 0 0 0 0 0 25 159725 chr17 21318753 21318753 C G rs149252809 KCNJ12, KCNJ18 Nonsynonymous SNV N33K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 159726 chr12 53925558 53925558 G A rs758874573 ATF7, ATF7-NPFF Synonymous SNV H244H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.929 159727 chr17 2268589 2268589 C T rs554686899 SGSM2 Synonymous SNV T414T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 159728 chr16 31092949 31092949 C T ZNF646 Synonymous SNV R1768R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 159729 chr12 56863017 56863017 G A rs924468937 SPRYD4 Nonsynonymous SNV V94M 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 28.6 159730 chr15 86212990 86212990 G A AKAP13 Nonsynonymous SNV C299Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 159731 chr14 20846205 20846205 A G rs778699655 TEP1 Nonsynonymous SNV L1792P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.8 159732 chr5 135692531 135692531 A T TRPC7 Nonsynonymous SNV I182N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 159733 chr5 140711595 140711595 C T rs111327215 PCDHGA1 Synonymous SNV N448N 0 0 0 1 0 0 0.003 0 0 0 0 0 4.546 159734 chr5 140735529 140735529 C G rs560131895 PCDHGA4 Nonsynonymous SNV N285K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.95 159735 chr5 140745559 140745559 C T rs571544765 PCDHGA5 Synonymous SNV D554D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.216 159736 chr16 3722703 3722703 C T rs148180859 TRAP1 Nonsynonymous SNV R335Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 33 159737 chr17 34149732 34149732 G A rs771783055 TAF15 Nonsynonymous SNV G124S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 159738 chr5 140812061 140812061 C T rs765178580 PCDHGA12 Nonsynonymous SNV P579S 0 0 0 1 0 0 0.003 0 0 0 0 0 25 159739 chr17 34235820 34235820 G C LRRC37A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.279 159740 chr12 62979252 62979252 A C rs61753654 MON2 Nonsynonymous SNV E1620D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.9 159741 chr17 34871802 34871802 T C rs187710120 MYO19 Nonsynonymous SNV Y149C 0 0 0.007 0 0 0 0 2 0 0 0 0 27.3 159742 chr17 35518782 35518782 T C ACACA Synonymous SNV S1659S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.205 159743 chr17 36508595 36508595 C G SOCS7 Synonymous SNV G220G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.3 159744 chr12 675239 675239 C T rs536237414 NINJ2 Nonsynonymous SNV A40T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.8 159745 chr15 91310214 91310214 A G rs146013879 BLM Synonymous SNV K756K 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.126 159746 chr5 148727920 148727920 C G rs775536256 GRPEL2 Nonsynonymous SNV P55A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 159747 chr5 148727956 148727956 G A rs758926660 GRPEL2 Nonsynonymous SNV V67I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 159748 chr16 4827879 4827879 C T rs376590388 SEPTIN12 Synonymous SNV P286P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 159749 chr5 149323804 149323804 C T rs35431421 PDE6A Nonsynonymous SNV A145T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 34 159750 chr14 23456518 23456518 T G rs202244698 C14orf93 Nonsynonymous SNV N508T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22 159751 chr14 23519130 23519130 G A rs572219131 CDH24 Synonymous SNV R462R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 159752 chr12 7045898 7045900 CAG - ATN1 Q502del 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 159753 chr5 140562745 140562745 A G PCDHB16 Nonsynonymous SNV E204G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 159754 chr17 38564279 38564279 T C rs761140038 TOP2A Synonymous SNV K480K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.956 159755 chr16 50368678 50368679 CT - rs145896392 BRD7 E277Gfs*18 0.001 0 0 1 1 0 0.003 0 0 0 0 0 159756 chr15 59373180 59373180 C A RNF111 Nonsynonymous SNV P665Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.1 159757 chr15 59517011 59517011 G A rs373337685 MYO1E Synonymous SNV G218G 0.003 0 0 0 4 0 0 0 0 0 0 0 15.33 159758 chr5 150696419 150696419 C T rs140682366 SLC36A2 Nonsynonymous SNV D471N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.882 159759 chr16 11370162 11370162 A G rs138381991 PRM2 Synonymous SNV H22H 0.006 0 0 0 7 0 0 0 0 0 0 0 0.061 159760 chr5 150924539 150924539 C T rs61743243 FAT2 Nonsynonymous SNV R2050Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26 159761 chr5 150930324 150930324 G T rs35884212 FAT2 Synonymous SNV R1469R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.46 159762 chr14 24898147 24898147 G T CBLN3 Synonymous SNV P38P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.889 159763 chr15 64792081 64792081 G A rs543917172 ZNF609 Nonsynonymous SNV G155S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.23 159764 chr5 154270995 154270995 A G rs749775695 GEMIN5 Synonymous SNV F1355F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.044 159765 chr12 80626768 80626768 C T rs370298976 OTOGL Synonymous SNV D227D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 16.23 159766 chr5 147661742 147661742 G T rs201839213 SPINK13 Nonsynonymous SNV A62S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 159767 chr5 156816288 156816288 G A rs745519217 CYFIP2 Nonsynonymous SNV R1074Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 159768 chr16 27761130 27761130 C T rs71389806 KIAA0556 Nonsynonymous SNV S950L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.372 159769 chr5 159344515 159344515 C T rs375325263 ADRA1B Synonymous SNV P201P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.847 159770 chr12 81747003 81747003 G A rs368909977 PPFIA2 Nonsynonymous SNV T197I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 159771 chr17 39580647 39580647 C T rs758968814 KRT37 Nonsynonymous SNV M43I 0 0 0.007 0 0 0 0 2 0 0 0 0 3.676 159772 chr16 1536214 1536214 C T rs778271839 PTX4 Nonsynonymous SNV R383H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.21 159773 chr17 39620408 39620408 C T rs762202748 KRT32 Synonymous SNV Q306Q 0 0 0.007 0 0 0 0 2 0 0 0 0 12.45 159774 chr16 15596187 15596187 C T rs979594174 BMERB1 Synonymous SNV G3G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.887 159775 chr16 615040 615040 G A rs373525903 PRR35 Synonymous SNV A483A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.553 159776 chr16 29937194 29937194 G A KCTD13 Nonsynonymous SNV T54I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 159777 chr14 45576789 45576789 G A rs149209273 PRPF39 Synonymous SNV S291S 0.008 0.003 0.003 3 9 1 0.008 1 0 0 0 0 13.52 159778 chr15 72700069 72700069 G A rs35916586 TMEM202 Synonymous SNV S219S 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 6.295 159779 chr17 39723604 39723604 C G rs778675824 KRT9 Nonsynonymous SNV G598A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 159780 chr16 68719183 68719183 C T rs35232945 CDH3 Synonymous SNV T445T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 10.1 159781 chr17 40715084 40715084 C G rs142297801 COASY Synonymous SNV A148A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.663 159782 chr16 21213290 21213290 A T rs149014575 ZP2 Nonsynonymous SNV F448I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.581 159783 chr17 40828462 40828462 - TTCTCG PLEKHH3 E40delinsDEK 0 0 0.003 0 0 0 0 1 0 0 0 0 159784 chr17 40828478 40828478 T C rs769212050 PLEKHH3 Nonsynonymous SNV E35G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 159785 chr14 58768403 58768403 G A rs148954262 ARID4A Nonsynonymous SNV V38I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.6 159786 chr7 141854560 141854560 A G rs145084583 MGAM2 Nonsynonymous SNV N613S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 17.26 159787 chr7 142480054 142480054 T C rs772000461 PRSS3P2 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.383 159788 chr17 42089509 42089509 A G rs150743650 TMEM101 Synonymous SNV Y187Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.622 159789 chr17 44067384 44067384 C T rs556489804 MAPT Synonymous SNV Y441Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 159790 chr17 4445983 4445983 C T MYBBP1A Synonymous SNV L982L 0 0 0.007 0 0 0 0 2 0 0 0 0 13.6 159791 chr5 167927609 167927609 G A RARS1 Nonsynonymous SNV R279K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 159792 chr16 78466478 78466478 G A rs79771882 WWOX Synonymous SNV R182R 0.004 0.005 0 4 5 2 0.01 0 0 0 0 1 Conflicting interpretations of pathogenicity 13.45 159793 chr7 149513096 149513096 C T rs377397345 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 9.756 159794 chr16 30616710 30616710 G C ZNF689 Synonymous SNV P126P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.853 159795 chr16 30748782 30748782 T C SRCAP Nonsynonymous SNV I2474T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.62 159796 chr13 113496687 113496687 C T rs141899520 ATP11A Synonymous SNV N601N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 10.35 159797 chr7 149557772 149557772 C T rs182698406 ZNF862 Nonsynonymous SNV T508M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.1 159798 chr13 114514724 114514724 C T rs528853185 TMEM255B Nonsynonymous SNV P229S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.97 159799 chr16 31092153 31092153 G A ZNF646 Nonsynonymous SNV C1503Y 0.003 0 0 0 3 0 0 0 0 0 0 0 10.43 159800 chr16 31143843 31143843 C T rs761118979 PRSS8 Synonymous SNV L204L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.8 159801 chr17 48249601 48249601 C T rs76235917 HILS1 0 0 0.027 0 0 0 0 8 0 0 0 0 4.094 159802 chr14 73407054 73407054 G A rs145062084 DCAF4 Nonsynonymous SNV R7Q 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 11.4 159803 chr6 7883468 7883468 C T rs111331197 TXNDC5 Nonsynonymous SNV R295Q 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 Benign 33 159804 chr14 73976156 73976156 G A rs150885411 HEATR4 Nonsynonymous SNV P527L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.2 159805 chr17 48603308 48603308 G A rs199636857 MYCBPAP Nonsynonymous SNV A632T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.005 159806 chr14 74424861 74424861 G A rs780055948 COQ6 Nonsynonymous SNV V165I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.7 159807 chr14 75052566 75052583 GGCGACTGTGGTGCGGGC - rs757670961 LTBP2 P271_A276del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 159808 chr16 4057426 4057426 C T rs371267555 ADCY9 Synonymous SNV A609A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.79 159809 chr13 25374623 25374623 A G rs756310964 RNF17 Nonsynonymous SNV Q570R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.062 159810 chr6 22570347 22570352 GGCGGC - rs762332928 HDGFL1 A187_A188del 0 0 0 1 0 0 0.003 0 0 0 0 0 159811 chr7 157985064 157985064 G A rs143446699 PTPRN2 Synonymous SNV D130D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.337 159812 chr7 158482638 158482638 T C rs61752311 NCAPG2 Nonsynonymous SNV D182G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 159813 chr6 24698219 24698219 G A rs200470807 ACOT13 Nonsynonymous SNV V64I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.021 159814 chr14 78140464 78140464 G A rs138157280 ALKBH1 Synonymous SNV H287H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.39 159815 chr16 4731639 4731639 C T rs766556602 MGRN1 Nonsynonymous SNV S385L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 159816 chr14 81743910 81743910 A G rs778380748 STON2 Nonsynonymous SNV I582T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 159817 chr16 48232179 48232179 T C rs138342031 ABCC11 Nonsynonymous SNV E697G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 159818 chr16 11217701 11217701 G A CLEC16A Nonsynonymous SNV A773T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 159819 chr14 88892982 88892982 C T rs778817427 SPATA7 Nonsynonymous SNV T228I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.9 159820 chr14 90759136 90759136 C T rs768142205 NRDE2 Nonsynonymous SNV A583T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.1 159821 chr16 49669796 49669796 G A rs150027129 ZNF423 Synonymous SNV Y972Y 0.006 0.005 0.007 2 7 2 0.005 2 0 1 0 0 Benign/Likely benign 0.516 159822 chr16 11792004 11792004 C T rs143169078 TXNDC11 Nonsynonymous SNV E148K 0.002 0 0 0 2 0 0 0 0 0 0 0 25 159823 chr6 6003485 6003485 C A NRN1 Nonsynonymous SNV G17V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 159824 chr16 521359 521359 G A rs765367344 RAB11FIP3 Synonymous SNV P291P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.737 159825 chr12 58190076 58190076 G T rs151248026 TSFM Nonsynonymous SNV V230L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 12.32 159826 chr16 88947704 88947704 T C rs749772901 CBFA2T3 Nonsynonymous SNV Q380R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.605 159827 chr16 55613118 55613118 T G rs147797312 LPCAT2 Nonsynonymous SNV L471R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 159828 chr13 46358133 46358133 - G SIAH3 Frameshift insertion H66Sfs*67 0 0.003 0 0 0 1 0 0 0 0 0 0 159829 chr12 63543682 63543682 A G AVPR1A Nonsynonymous SNV M312T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.5 159830 chr12 64173750 64173750 A T RXYLT1 Nonsynonymous SNV T4S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.86 159831 chr16 56686935 56686935 T C MT1B Synonymous SNV C48C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.657 159832 chr16 89347862 89347862 G C rs146205997 ANKRD11 Nonsynonymous SNV D1696E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 0.006 159833 chr8 13948028 13948028 T A SGCZ Nonsynonymous SNV N254I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.3 159834 chr17 67249997 67249997 G A rs200810054 ABCA5 Nonsynonymous SNV L1420F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 159835 chr16 984090 984090 G C LMF1 Nonsynonymous SNV L6V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.549 159836 chr17 7127674 7127674 G A rs139425622 ACADVL Nonsynonymous SNV G501R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.4 159837 chr17 7139412 7139412 G A rs61737789 PHF23 Synonymous SNV P211P 0 0 0.01 0 0 0 0 3 0 0 0 0 0.086 159838 chr17 7161956 7161956 G A rs78782818 ELP5 Nonsynonymous SNV G230E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.006 159839 chr16 66885595 66885595 G A rs201012946 CA7 Nonsynonymous SNV R105H 0.002 0 0 0 2 0 0 0 0 0 0 0 31 159840 chr13 77459690 77459690 G A KCTD12 Synonymous SNV S198S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.43 159841 chr12 7045897 7045897 - CAG ATN1 Q502_H503insQ 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 159842 chr6 42071612 42071612 G A C6orf132 Nonsynonymous SNV P1152S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.65 159843 chr16 1962004 1962004 C A rs199988789 HS3ST6 Nonsynonymous SNV A206S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.391 159844 chr15 25925387 25925387 A G ATP10A Synonymous SNV N1249N 0.003 0 0 0 3 0 0 0 0 0 0 0 2.883 159845 chr15 31664259 31664259 C T rs144180630 KLF13 Synonymous SNV F208F 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.92 159846 chr16 72828890 72828890 T C rs141564201 ZFHX3 Nonsynonymous SNV Q1650R 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 10.91 159847 chr16 74678537 74678537 C T rs138454127 RFWD3 Nonsynonymous SNV A19T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 159848 chr17 73830524 73830524 C T rs747390615 UNC13D Nonsynonymous SNV R727Q 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 159849 chr6 46847567 46847567 G A rs148450798 ADGRF5 Nonsynonymous SNV P342S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.004 159850 chr6 47650092 47650092 C A rs61753403 ADGRF2 Nonsynonymous SNV D599E 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 21.1 159851 chr17 74934132 74934132 C T rs142620309 MGAT5B Synonymous SNV Y506Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 159852 chr15 41786452 41786452 G C ITPKA Synonymous SNV A109A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.02 159853 chr8 37720546 37720546 G A rs368435417 RAB11FIP1 Nonsynonymous SNV T606M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 24.8 159854 chr16 89590446 89590446 A G SPG7 Nonsynonymous SNV M137V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 159855 chr16 83065791 83065791 G A rs200199969 CDH13 Nonsynonymous SNV V112I 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Likely benign 10.35 159856 chr6 56418020 56418020 C T rs200941177 DST Synonymous SNV E2567E 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign 9.734 159857 chr6 41613958 41613958 G A rs754576710 MDFI Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 159858 chr17 76803354 76803354 G C USP36 Nonsynonymous SNV A591G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 159859 chr15 43689494 43689494 C T rs186788196 TUBGCP4 Synonymous SNV I418I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 18.89 159860 chr17 7691282 7691282 C T DNAH2 Synonymous SNV P2236P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 159861 chr15 44952782 44952782 G A rs760574097 SPG11 Nonsynonymous SNV T97I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 159862 chr17 26711555 26711555 G T rs782294365 SARM1 Nonsynonymous SNV Q422H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.3 159863 chr16 8735030 8735030 A G rs774781510 METTL22 Nonsynonymous SNV D272G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 159864 chr6 78471159 78471159 C T MEI4 Nonsynonymous SNV T182I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.58 159865 chr17 79182769 79182769 G A rs147013250 CEP131 Synonymous SNV N77N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.169 159866 chr17 79503253 79503255 GAA - rs760309853 FSCN2 K357del 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 159867 chr17 17062002 17062002 C T rs190974068 MPRIP Nonsynonymous SNV P728S 0.005 0.016 0.003 0 6 6 0 1 0 0 0 0 0.244 159868 chr8 87540832 87540832 A C rs138817561 CPNE3 Nonsynonymous SNV D20A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 159869 chr15 54306967 54306967 G A rs201356448 UNC13C Nonsynonymous SNV E623K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 159870 chr13 21357938 21357938 G A rs892103641 XPO4 Nonsynonymous SNV R1013W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 159871 chr6 55739526 55739526 G A rs773535817 BMP5 Synonymous SNV H46H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.199 159872 chr13 27257069 27257069 A G rs138080902 WASF3 Nonsynonymous SNV I434V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.001 159873 chr15 64680083 64680083 G C rs35604990 TRIP4 Synonymous SNV V7V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.66 159874 chr14 35872438 35872438 G A rs763183892 NFKBIA Synonymous SNV G155G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.996 159875 chr15 65214210 65214210 G C rs76626463 ANKDD1A Nonsynonymous SNV E120Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 159876 chr16 920825 920825 C T rs36055899 LMF1 Nonsynonymous SNV S270N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 159877 chr6 111329302 111329302 T G rs775671273 RPF2 Nonsynonymous SNV V89G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.2 159878 chr16 67876475 67876475 C T rs772198898 THAP11 Synonymous SNV C6C 0.009 0.008 0 0 10 3 0 0 0 0 0 0 0.522 159879 chr16 67907238 67907238 C T EDC4 Nonsynonymous SNV P25L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25 159880 chr15 65627127 65627127 G A rs143327105 IGDCC3 Synonymous SNV T254T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 159881 chr17 26669403 26669403 G C rs138622447 TNFAIP1 Nonsynonymous SNV G217R 0.003 0 0.007 1 3 0 0.003 2 0 0 1 0 24.6 159882 chr18 19154416 19154416 - CAA rs748405252 ESCO1 T129_E130insV 0.002 0 0.003 0 2 0 0 1 0 0 0 0 159883 chr16 69221624 69221624 C T rs911953890 SNTB2 Synonymous SNV R185R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 18.65 159884 chr13 37401782 37401782 G A rs760354012 RFXAP Synonymous SNV S237S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 1.148 159885 chr13 37583400 37583400 G C rs776552289 EXOSC8 Synonymous SNV L265L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.888 159886 chr17 14205035 14205035 G T HS3ST3B1 Nonsynonymous SNV G67V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 159887 chr17 39305805 39305805 T C rs749252755 KRTAP4-5 Nonsynonymous SNV E72G 0.007 0 0 6 8 0 0.015 0 0 0 0 0 0.023 159888 chr18 29972991 29972991 G A rs148050101 GAREM1 Synonymous SNV C43C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 11.62 159889 chr18 3215119 3215119 G C MYOM1 Nonsynonymous SNV R35G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 159890 chr17 18049423 18049423 T A MYO15A 0.003 0 0 0 3 0 0 0 0 0 0 0 26.7 159891 chr14 59834235 59834235 C G DAAM1 Nonsynonymous SNV A972G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 159892 chr18 33573157 33573157 T G rs751377732 RPRD1A Nonsynonymous SNV H299P 0 0 0.003 0 0 0 0 1 0 0 0 0 22 159893 chr6 108843547 108843547 T G rs143107973 AFG1L Nonsynonymous SNV F408L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 25.1 159894 chr15 81578048 81578048 C T rs374076985 IL16 Synonymous SNV D403D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.7 159895 chr17 40255672 40255672 G A rs782036902 DHX58 Nonsynonymous SNV R570W 0.007 0 0.007 4 8 0 0.01 2 0 0 0 0 26.7 159896 chr6 117198648 117198648 G A rs371479688 RFX6 Synonymous SNV G70G 0.006 0.01 0 2 7 4 0.005 0 0 0 0 0 8.66 159897 chr15 89198743 89198743 G A rs748762729 ISG20 Nonsynonymous SNV R165H 0.003 0 0 0 3 0 0 0 0 0 0 0 19.01 159898 chr16 84513531 84513531 C T rs368856164 MEAK7 Synonymous SNV P453P 0.004 0.013 0 1 5 5 0.003 0 0 0 0 0 11.8 159899 chr17 263516 263516 C T rs75627881 C17orf97 Synonymous SNV G294G 0.003 0 0 0 4 0 0 0 2 0 0 0 10.39 159900 chr15 89807189 89807189 A G rs774564150 FANCI Nonsynonymous SNV M201V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.002 159901 chr6 158507922 158507922 G A rs756955455 SYNJ2 Nonsynonymous SNV E845K 0 0 0 3 0 0 0.008 0 0 0 0 0 25.8 159902 chr17 27028481 27028481 C T rs141402115 SUPT6H Synonymous SNV D1673D 0.008 0.003 0.003 0 9 1 0 1 0 0 0 0 10.96 159903 chr15 90213451 90213451 T C rs148785094 PLIN1 Nonsynonymous SNV I120V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.6 159904 chr6 159687181 159687181 C T rs180849332 FNDC1 Nonsynonymous SNV R1784W 0 0.005 0 1 0 2 0.003 0 0 0 0 0 34 159905 chr6 143095374 143095374 T G rs756639595 HIVEP2 Nonsynonymous SNV K168Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 159906 chr14 88737132 88737132 A G KCNK10 Star tloss M1? 0 0.005 0 0 0 2 0 0 0 0 0 0 13.92 159907 chr9 5164151 5164151 T C rs34832229 INSL6 Nonsynonymous SNV H135R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.23 159908 chr9 5233855 5233855 C A rs62638703 INSL4 Nonsynonymous SNV T133N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 1.207 159909 chr9 5787206 5787206 T G ERMP1 Nonsynonymous SNV K885Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.206 159910 chr17 48185776 48185776 A G rs770323108 PDK2 Nonsynonymous SNV I222V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 159911 chr9 8389377 8389377 T C rs760240241 PTPRD Nonsynonymous SNV N1007S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 159912 chr16 11016036 11016036 C T rs753080109 CIITA Synonymous SNV N470N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.147 159913 chr6 168376847 168376847 C G rs77867907 HGC6.3 Synonymous SNV L162L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.47 159914 chr14 94430711 94430711 G A rs45580033 ASB2 Nonsynonymous SNV R59C 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 22.6 159915 chr17 34171978 34172001 GGAGGAGACCGAGGTGGGGGCTAC - rs537726014 TAF15 G562_G569del 0.001 0 0 0 1 0 0 0 0 0 0 0 159916 chr19 10204469 10204469 G C rs201622589 ANGPTL6 Stop gain S284X 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 35 159917 chr19 10221739 10221739 G A rs375696604 PPAN, PPAN-P2RY11 Synonymous SNV K387K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.234 159918 chr17 11672523 11672523 G C DNAH9 Nonsynonymous SNV V2477L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 159919 chr17 56540547 56540547 C G HSF5 Nonsynonymous SNV D380H 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 26.3 159920 chr19 10400751 10400751 C T ICAM5 Nonsynonymous SNV A11V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 159921 chr7 2632760 2632760 G A rs765060011 IQCE Nonsynonymous SNV R385K 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 3.288 159922 chr17 14248919 14248919 C T HS3ST3B1 Nonsynonymous SNV L377F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.99 159923 chr17 58524990 58524990 C T rs150913774 APPBP2 Synonymous SNV V499V 0.005 0 0 0 6 0 0 0 0 0 0 0 9.766 159924 chr17 1612849 1612849 G A TLCD2 Synonymous SNV L96L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.177 159925 chr14 23239777 23239777 C T rs750987861 OXA1L Synonymous SNV S259S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.59 159926 chr17 17697046 17697046 C T rs781334124 RAI1 Nonsynonymous SNV R262W 0.003 0 0 0 3 0 0 0 0 0 0 0 27 159927 chr17 17697047 17697047 G T RAI1 Nonsynonymous SNV R262L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 159928 chr19 11352226 11352226 G A ANGPTL8 Nonsynonymous SNV E189K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 159929 chr15 28202854 28202854 C T rs768169106 OCA2 Nonsynonymous SNV R531H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.6 159930 chr14 24655130 24655130 C T rs200854426 IPO4 Nonsynonymous SNV R369H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 159931 chr16 2140568 2140568 G A rs143802974 PKD1 Synonymous SNV S4053S 0.004 0 0 0 5 0 0 0 0 0 0 0 7.561 159932 chr9 86354626 86354626 C T rs554092166 GKAP1 Nonsynonymous SNV D312N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 159933 chr17 46928519 46928519 T G rs751645350 CALCOCO2 Stop gain Y162X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 159934 chr9 88938785 88938785 T C TUT7 Nonsynonymous SNV K504R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 159935 chr19 14200072 14200072 T C rs772841311 SAMD1 Nonsynonymous SNV S247G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.9 159936 chr14 29237718 29237718 G A rs34654108 FOXG1 Synonymous SNV A411A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 10.71 159937 chr16 2293429 2293429 G A rs148169749 ECI1 Synonymous SNV P151P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.968 159938 chr9 96437996 96437996 G A rs147180315 PHF2 Synonymous SNV R919R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.24 159939 chr16 27689120 27689120 A G rs111842345 KIAA0556 Nonsynonymous SNV Y204C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 23.1 159940 chr17 6930364 6930364 C T rs186677055 BCL6B Synonymous SNV L427L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.805 159941 chr19 15341800 15341800 T C rs146265816 EPHX3 Nonsynonymous SNV S197G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.58 159942 chr17 41107224 41107224 T C AARSD1, PTGES3L-AARSD1 Nonsynonymous SNV H271R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.7 159943 chr9 101599349 101599349 G A rs148125332 GALNT12 Synonymous SNV L377L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign/Likely benign 10.75 159944 chr16 30197999 30197999 T C rs760311218 CORO1A Synonymous SNV N93N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.07 159945 chr19 15871140 15871140 C G rs62104728 CYP4F24P 0 0 0.031 0 0 0 0 9 0 0 0 0 0.068 159946 chr9 104152904 104152904 G A rs763916831 MRPL50 Synonymous SNV D107D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.372 159947 chr17 5342208 5342208 G A C1QBP Synonymous SNV R62R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 159948 chr14 52174899 52174899 A G rs147736056 FRMD6 Nonsynonymous SNV K221R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.7 159949 chr19 16513263 16513263 G A rs202010883 EPS15L1 Nonsynonymous SNV R554C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 159950 chr9 111624895 111624895 C T rs144590040 ACTL7A Nonsynonymous SNV T98M 0 0 0 2 0 0 0.005 0 0 0 0 0 13.3 159951 chr17 7286320 7286320 C T TNK1 Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 159952 chr16 332632 332632 A G rs145921827 ARHGDIG Nonsynonymous SNV M166V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 22.9 159953 chr17 45451933 45451933 T C rs190550988 EFCAB13 Synonymous SNV L229L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.05 159954 chr17 7330280 7330280 C T rs766560012 SPEM2 Nonsynonymous SNV P324S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.96 159955 chr9 114905853 114905853 C T rs760395542 SUSD1 Nonsynonymous SNV V142M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.53 159956 chr17 3445867 3445867 C T rs78615718 TRPV3 Nonsynonymous SNV D198N 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 21.5 159957 chr17 73832334 73832334 C T UNC13D Nonsynonymous SNV G465S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.6 159958 chr17 3493636 3493636 T C rs149386111 TRPV1 Nonsynonymous SNV T219A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 19.11 159959 chr17 3518698 3518698 C T rs144036687 SHPK Synonymous SNV A319A 0.003 0 0 0 3 0 0 0 0 0 0 0 17.54 159960 chr17 3563976 3563976 C T rs146610717 CTNS Nonsynonymous SNV P384L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.01 159961 chr17 3575643 3575643 G A rs80305703 P2RX5-TAX1BP3 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 2.992 159962 chr17 4799506 4799506 C T rs749341476 MINK1 Nonsynonymous SNV H1125Y 0.003 0 0 0 4 0 0 0 0 0 0 0 28.6 159963 chr17 48174794 48174794 C T rs11546968 PDK2 Synonymous SNV S42S 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 13.89 159964 chr17 74395936 74395936 G A rs142461783 UBE2O Nonsynonymous SNV R408W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23 159965 chr19 19337449 19337449 G A rs760131661 NCAN Synonymous SNV V409V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 159966 chr7 55459562 55459562 C T rs758994608 LANCL2 Nonsynonymous SNV T94I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 159967 chr7 66274003 66274003 C G rs550041866 RABGEF1 Nonsynonymous SNV A196G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.84 159968 chr7 38505102 38505102 G A rs146457438 AMPH Synonymous SNV H238H 0.003 0 0 0 4 0 0 0 0 0 0 0 8.761 159969 chr19 2278728 2278728 C T rs773827787 PEAK3 Nonsynonymous SNV R156Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 159970 chr17 71397326 71397326 T C rs137921116 SDK2 Nonsynonymous SNV Y935C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.6 159971 chr19 2408476 2408476 C T rs559619617 TMPRSS9 Nonsynonymous SNV T288M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 159972 chr16 57504231 57504231 G A POLR2C Synonymous SNV S216S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 159973 chr19 2917920 2917920 C T rs373691723 ZNF57 Nonsynonymous SNV T402M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 159974 chr17 55927355 55927355 A G MRPS23 Nonsynonymous SNV L6P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26 159975 chr19 31039984 31039984 C T rs201256892 ZNF536 Nonsynonymous SNV T1153M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.67 159976 chr19 33585125 33585125 G T rs369545403 GPATCH1 Nonsynonymous SNV G168V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.5 159977 chr16 68265775 68265775 C A rs547507047 ESRP2 Nonsynonymous SNV R420L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 159978 chr16 68325153 68325153 C T rs758757481 SLC7A6 Nonsynonymous SNV T279M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.5 159979 chr17 62270960 62270960 G A rs150878483 TEX2 Nonsynonymous SNV S712L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23 159980 chr7 53103729 53103729 G C rs79921359 POM121L12 Nonsynonymous SNV G122A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.354 159981 chr7 92210902 92210902 T C rs751381274 FAM133B Nonsynonymous SNV I4V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 159982 chr17 6358878 6358878 A G rs760812284 PITPNM3 Nonsynonymous SNV I866T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 159983 chr7 55466124 55466124 C T rs940861256 LANCL2 Nonsynonymous SNV L111F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 159984 chr17 6498301 6498301 C T rs201360042 KIAA0753 Nonsynonymous SNV E512K 0.002 0 0 0 2 0 0 0 0 0 0 0 18.6 159985 chr16 731466 731466 G A rs757323165 STUB1 Synonymous SNV L57L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.397 159986 chr17 8222387 8222387 C T rs934765939 ARHGEF15 Nonsynonymous SNV P699L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 159987 chr17 74387232 74387232 G A rs771187543 UBE2O Nonsynonymous SNV P1224L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.634 159988 chr17 68128974 68128974 C T KCNJ16 Nonsynonymous SNV T284I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25 159989 chr7 87005188 87005188 G A CROT Synonymous SNV L265L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.578 159990 chr7 87838744 87838744 C T rs749176582 SRI Nonsynonymous SNV V141M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 159991 chr15 89074019 89074019 C A DET1 Synonymous SNV R306R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.46 159992 chr16 82131763 82131763 G A rs751733597 HSD17B2 Nonsynonymous SNV G296S 0.009 0.005 0 0 11 2 0 0 0 0 0 0 26.9 159993 chr18 18608740 18608740 C T rs374052961 ROCK1 Nonsynonymous SNV R403H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 159994 chr19 39070706 39070706 A G rs143988412 RYR1 Nonsynonymous SNV I4812V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 159995 chr19 39227931 39227931 A G CAPN12 Synonymous SNV A409A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 159996 chr7 92098549 92098549 G A rs372010298 ERVW-1 Stop gain R383X 0.011 0.008 0 0 13 3 0 0 0 0 0 0 35 159997 chr15 90169192 90169192 C T rs75843552 TICRR Synonymous SNV A1833A 0.008 0.01 0.007 8 9 4 0.021 2 0 0 0 0 13.53 159998 chr19 39997969 39997969 G A rs182454962 DLL3 Nonsynonymous SNV A462T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.529 159999 chr17 46054150 46054150 G A rs763598750 CDK5RAP3 Nonsynonymous SNV G66R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 22.7 160000 chr19 40421408 40421408 T G rs34873737 FCGBP Nonsynonymous SNV K838T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.358 160001 chr7 98508145 98508145 T C rs141155552 TRRAP Nonsynonymous SNV I576T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.43 160002 chr16 84690728 84690728 C T rs143590033 KLHL36 Synonymous SNV Y105Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.307 160003 chr19 40903208 40903208 G A rs73933276 PRX Nonsynonymous SNV P351S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.1 160004 chr7 100421415 100421415 C T rs750486999 EPHB4 Nonsynonymous SNV A88T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 160005 chr19 40929347 40929347 G T rs749659665 SERTAD1 Nonsynonymous SNV A36E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.593 160006 chr17 74387228 74387228 G A rs144556802 UBE2O Synonymous SNV D1225D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.261 160007 chr19 4312014 4312014 C T rs772809988 FSD1 Synonymous SNV I222I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.9 160008 chr16 88805009 88805009 G T rs924417840 PIEZO1 Synonymous SNV R201R 0.003 0 0 0 4 0 0 0 0 0 0 0 6.597 160009 chr10 7621769 7621769 C T rs940463193 ITIH5 Nonsynonymous SNV G242D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 160010 chr17 5324657 5324657 A C rs753249723 RPAIN Synonymous SNV L41L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.105 160011 chr19 44285007 44285007 C T rs199514640 KCNN4 Nonsynonymous SNV G3R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 160012 chr7 102113191 102113191 C T rs10249943 LRWD1 Synonymous SNV D429D 0 0 0.007 3 0 0 0.008 2 0 0 1 0 11.62 160013 chr7 102448819 102448819 T G rs79250295 FAM185A Nonsynonymous SNV S266R 0 0 0 3 0 0 0.008 0 0 0 0 0 27.8 160014 chr7 102715840 102715840 C T rs201282030 ARMC10 Nonsynonymous SNV R41C 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 160015 chr7 102939019 102939019 T C rs62622397 PMPCB Nonsynonymous SNV L35S 0 0 0.01 3 0 0 0.008 3 0 0 1 0 6.756 160016 chr17 56274407 56274407 C T rs138295034 EPX Synonymous SNV N303N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.68 160017 chr7 107616155 107616155 G C rs140459621 LAMB1 Nonsynonymous SNV R390G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 160018 chr16 89642461 89642461 G T rs756948433 CPNE7 Synonymous SNV A52A 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 9.003 160019 chr18 53303019 53303019 G T TCF4 Nonsynonymous SNV P37Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 160020 chr19 44681368 44681368 T C ZNF226 Synonymous SNV S651S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.103 160021 chr19 44681372 44681372 G A rs771124673 ZNF226 Nonsynonymous SNV G653S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.32 160022 chr7 130417942 130417942 A G KLF14 Nonsynonymous SNV S307P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 160023 chr17 78345744 78345744 G A rs148157068 RNF213 Nonsynonymous SNV D4166N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 160024 chr19 4552612 4552612 C T rs373487094 SEMA6B Nonsynonymous SNV V271M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 160025 chr7 131864526 131864526 C T rs758459805 PLXNA4 Nonsynonymous SNV R1265H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.8 160026 chr18 61234039 61234039 A G rs11664907 SERPINB12 Nonsynonymous SNV N358S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.014 160027 chr7 135079024 135079024 C T rs183659078 CNOT4 Nonsynonymous SNV V422I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25 160028 chr15 58465343 58465343 T C AQP9 Synonymous SNV Y105Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.319 160029 chr17 79639537 79639537 T C CCDC137 Nonsynonymous SNV S225P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.835 160030 chr17 79771369 79771369 G A rs887645895 GCGR Nonsynonymous SNV R413Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.79 160031 chr16 2222212 2222212 G A rs375286771 TRAF7 Nonsynonymous SNV V166I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.92 160032 chr16 23404636 23404636 A T COG7 Nonsynonymous SNV N640K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 160033 chr19 47883158 47883163 GGAGGA - rs533574046 DHX34 E970_E971del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 160034 chr7 117176653 117176653 G A CFTR Nonsynonymous SNV M265I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 160035 chr17 7106852 7106852 C A rs182090477 DLG4 Synonymous SNV A72A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.72 160036 chr18 712379 712379 A G rs541807775 ENOSF1 Nonsynonymous SNV M70T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.029 160037 chr18 712397 712397 A G rs545779297 ENOSF1 Nonsynonymous SNV M64T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.882 160038 chr18 712415 712415 A G rs531386054 ENOSF1 Nonsynonymous SNV M58T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.964 160039 chr17 80407065 80407065 C T rs370077682 CYBC1 Synonymous SNV R22R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.46 160040 chr7 142988689 142988689 G A rs765644489 CASP2 Nonsynonymous SNV R13Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 160041 chr17 8079519 8079519 C G rs776684584 TMEM107 Nonsynonymous SNV R29P 0.003 0 0 0 4 0 0 0 0 0 0 0 33 160042 chr18 72998676 72998676 C T rs73484103 TSHZ1 Synonymous SNV T438T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Likely benign 10.4 160043 chr7 143098628 143098628 C T rs535622332 EPHA1 Nonsynonymous SNV R74H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.7 160044 chr19 48640293 48640293 G A rs367665775 LIG1 Nonsynonymous SNV R367C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 160045 chr7 149473464 149473464 G A rs371687744 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 3.591 160046 chr7 149484573 149484573 C T rs748888119 SSPO 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.44 160047 chr19 49514333 49514333 G A rs780844276 RUVBL2 Nonsynonymous SNV A255T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 160048 chr19 49514460 49514460 C T rs183507833 RUVBL2 Synonymous SNV I264I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 160049 chr19 10129472 10129472 G A RDH8 Nonsynonymous SNV V110I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 160050 chr7 150267063 150267063 G A rs772433253 GIMAP4 Nonsynonymous SNV S25N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.832 160051 chr15 73996258 73996258 G A rs762931731 CD276 Nonsynonymous SNV R185H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 160052 chr16 31388503 31388503 T G rs765494237 ITGAX Nonsynonymous SNV S902R 0 0.003 0 5 0 1 0.013 0 0 0 0 0 24.1 160053 chr17 73498986 73498986 A G rs145644586 CASKIN2 Synonymous SNV D641D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 160054 chr18 21484552 21484552 G C rs148728856 LAMA3 Nonsynonymous SNV R505P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 34 160055 chr15 74710638 74710638 A T rs16968733 SEMA7A Nonsynonymous SNV S115T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 6.306 160056 chr7 150690909 150690909 C T rs759850942 NOS3 Synonymous SNV S6S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.21 160057 chr15 75093890 75093890 A C rs1801014 CSK Synonymous SNV R281R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.008 160058 chr7 139164499 139164499 G A rs767922929 KLRG2 Synonymous SNV C293C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.347 160059 chr16 3576466 3576466 C T rs137950850 CLUAP1 Nonsynonymous SNV R138C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 160060 chr19 50376388 50376388 C T rs201965042 AKT1S1 Synonymous SNV A55A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.702 160061 chr19 10577844 10577844 G A rs149743583 PDE4A Synonymous SNV A497A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.344 160062 chr16 46638194 46638194 G A rs138864591 SHCBP1 Nonsynonymous SNV S252L 0 0.003 0 5 0 1 0.013 0 0 0 0 0 22.1 160063 chr7 142651290 142651290 A G rs61729034 KEL Nonsynonymous SNV V302A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.47 160064 chr15 83519982 83519982 T C rs79448007 HOMER2 Nonsynonymous SNV E255G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 29.6 160065 chr8 8875875 8875875 G A rs749050252 ERI1 Synonymous SNV K139K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.47 160066 chr17 34870369 34870369 C T rs148766155 MYO19 Nonsynonymous SNV A214T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 160067 chr19 52793406 52793406 T G ZNF766 Nonsynonymous SNV L121R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 160068 chr18 44101222 44101223 AG - LOXHD1 P496Rfs*25 0.003 0 0 0 3 0 0 0 0 0 0 0 160069 chr7 149524996 149524996 C T rs200713442 SSPO 0.003 0.005 0.017 1 3 2 0.003 5 0 0 0 0 12.37 160070 chr19 12829949 12829949 G A rs200633716 TNPO2 Synonymous SNV N73N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.814 160071 chr19 53100726 53100726 C G rs188291966 ZNF137P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 160072 chr17 77807763 77807763 C A CBX4 Nonsynonymous SNV V560L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 160073 chr7 150647100 150647100 C T rs139247073 KCNH2 Nonsynonymous SNV G512R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.143 160074 chr16 58701277 58701277 G A rs1046183241 SLC38A7 Nonsynonymous SNV P333L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.74 160075 chr16 66511534 66511534 C T BEAN1 Nonsynonymous SNV P12S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.2 160076 chr17 78935275 78935275 T C rs144649038 RPTOR Synonymous SNV S1071S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.219 160077 chr8 20005574 20005574 A G rs138289026 SLC18A1 Nonsynonymous SNV L353P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 160078 chr19 54848287 54848287 T G rs928708416 LILRA4 Synonymous SNV A360A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.257 160079 chr17 39023219 39023219 C T rs138169839 KRT12 Nonsynonymous SNV G74R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 22.6 160080 chr17 79349769 79349769 C T LOC100130370 0.003 0 0 0 3 0 0 0 0 0 0 0 4.641 160081 chr17 79517461 79517461 G A rs368906561 FAAP100 Synonymous SNV G353G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.151 160082 chr16 71660454 71660454 G A rs546760858 MARVELD3 Nonsynonymous SNV E108K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.8 160083 chr19 1083286 1083286 C G ARHGAP45 Nonsynonymous SNV I598M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 160084 chr17 39458741 39458741 G A rs563142887 KRTAP29-1 Synonymous SNV C121C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.587 160085 chr19 11545665 11545665 A G rs61741137 CCDC151 Nonsynonymous SNV F58S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign 0.267 160086 chr19 17688018 17688018 G A rs142395967 COLGALT1 Nonsynonymous SNV A322T 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 14.14 160087 chr19 17752351 17752351 G A rs375584692 UNC13A Synonymous SNV F829F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.681 160088 chr19 12089223 12089223 C T rs191167657 ZNF763 Stop gain Q40X 0.003 0 0 0 4 0 0 0 0 0 0 0 35 160089 chr18 77193591 77193591 C T rs139104184 NFATC1 Synonymous SNV P413P 0.005 0 0 0 6 0 0 0 0 0 0 0 11.89 160090 chr19 18193070 18193070 C T rs527461691 IL12RB1 Synonymous SNV S43S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.85 160091 chr8 30699666 30699666 T C rs144811062 TEX15 Nonsynonymous SNV I2673V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.003 160092 chr17 3979948 3979948 C T rs143736611 ZZEF1 Nonsynonymous SNV E1073K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.95 160093 chr18 77664080 77664080 C A rs201258274 SLC66A2 Nonsynonymous SNV V220L 0.003 0 0 0 4 0 0 0 0 0 0 0 25 160094 chr19 56369881 56369881 T G rs756909285 NLRP4 Synonymous SNV S374S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 160095 chr8 13356621 13356621 T G rs34591797 DLC1 Nonsynonymous SNV Q320H 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.002 160096 chr17 40277828 40277828 G A rs781923218 RAB5C Synonymous SNV A208A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 160097 chr8 17541852 17541852 C T MTUS1 Synonymous SNV Q107Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 160098 chr19 19369591 19369591 G C rs149372573 HAPLN4 Synonymous SNV A186A 0.003 0 0 0 4 0 0 0 0 0 0 0 7.362 160099 chr8 41559600 41559600 G A rs766077371 ANK1 Synonymous SNV L786L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.589 160100 chr19 19823868 19823868 A T rs772249902 ZNF14 Nonsynonymous SNV S74R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.225 160101 chr16 2027623 2027623 C T rs116966818 TBL3 Synonymous SNV D617D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.958 160102 chr19 21476455 21476455 T C rs147864512 ZNF708 Nonsynonymous SNV H374R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 19.61 160103 chr19 5866754 5866754 C T rs374202687 FUT5 Nonsynonymous SNV R328H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 160104 chr17 4434391 4434391 G A rs759366061 SPNS2 Nonsynonymous SNV G257R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 160105 chr19 30165132 30165132 G A rs773096264 PLEKHF1 Nonsynonymous SNV C129Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 160106 chr19 59010221 59010221 C T rs143397900 SLC27A5 Synonymous SNV G525G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 17.58 160107 chr19 33134037 33134037 C T rs141889621 ANKRD27 Synonymous SNV P258P 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 19.64 160108 chr19 6468299 6468299 C T rs553931977 DENND1C Synonymous SNV P535P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 160109 chr19 651627 651627 C T rs769494147 RNF126 Nonsynonymous SNV V143I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 160110 chr19 1236080 1236080 A G rs113298601 CBARP Nonsynonymous SNV M7T 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 22.9 160111 chr19 6971250 6971250 A G rs142404555 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 160112 chr18 44262027 44262027 C T rs200910660 ST8SIA5 Synonymous SNV R159R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.76 160113 chr19 7600806 7600806 G A rs938496866 PNPLA6 Synonymous SNV P44P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 160114 chr19 14274097 14274097 C T ADGRL1 Nonsynonymous SNV M172I 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 27.9 160115 chr19 8575770 8575770 G A rs576116806 ZNF414 Nonsynonymous SNV P355L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.463 160116 chr8 54791988 54791988 G A rs75833547 RGS20 Synonymous SNV P112P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 12.66 160117 chr8 54852220 54852220 G A rs145171609 RGS20 Nonsynonymous SNV G84R 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 13.96 160118 chr8 55047874 55047874 C T rs756378155 MRPL15 Nonsynonymous SNV R11W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 160119 chr18 59757754 59757754 T C rs200658159 PIGN Nonsynonymous SNV I746M 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 9.049 160120 chr8 69243290 69243290 C T rs73254830 C8orf34 Synonymous SNV L15L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 160121 chr17 57287453 57287453 C T rs200954396 SMG8 Nonsynonymous SNV A14V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 160122 chr8 124665077 124665077 G C rs753910348 KLHL38 Nonsynonymous SNV S30R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 160123 chr17 58603218 58603218 G A rs776891131 APPBP2 Synonymous SNV Y25Y 0.002 0 0 0 2 0 0 0 0 0 0 0 8.191 160124 chr19 3157842 3157842 C A rs770093189 GNA15 Synonymous SNV P287P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 160125 chr19 37680988 37680988 A G rs139417068 ZNF585B Nonsynonymous SNV L46P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.005 160126 chr19 37853375 37853375 T C rs61741499 ZNF875 Synonymous SNV D166D 0.001 0 0.02 0 1 0 0 6 0 0 0 0 0.047 160127 chr19 37854288 37854288 G A rs150628887 ZNF875 Nonsynonymous SNV G471R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 25.4 160128 chr17 62041176 62041176 C T rs185941768 SCN4A Nonsynonymous SNV A488T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.8 160129 chr17 20108365 20108365 A G rs903758974 SPECC1 Nonsynonymous SNV T254A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.515 160130 chr19 17688007 17688007 A C rs977372621 COLGALT1 Nonsynonymous SNV K318T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.57 160131 chr19 9072726 9072726 G T rs373607466 MUC16 Nonsynonymous SNV T4907N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 160132 chr8 99961663 99961663 A T rs370955340 OSR2 Synonymous SNV R161R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.576 160133 chr18 77440025 77440025 G C rs777163921 CTDP1 Synonymous SNV G26G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.733 160134 chr19 38912773 38912773 G A rs1043968214 RASGRP4 Nonsynonymous SNV T15I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.837 160135 chr17 65734254 65734254 C T rs149869108 NOL11 Nonsynonymous SNV L334F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 160136 chr19 39440893 39440893 G A FBXO17 Nonsynonymous SNV P23S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 160137 chr19 39665598 39665598 G A rs375220515 PAK4 Nonsynonymous SNV E223K 0.003 0 0 0 3 0 0 0 0 0 0 0 25 160138 chr8 104447940 104447940 C G DCAF13 Nonsynonymous SNV S291C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.3 160139 chr1 100732152 100732152 C T RTCA Stop gain R40X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 160140 chr1 1078554 1078554 C T rs139828236 LINC01342 0 0 0.007 0 0 0 0 2 0 0 0 0 3.309 160141 chr17 70644956 70644956 G A rs199540313 SLC39A11 Synonymous SNV P312P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.88 160142 chr17 28538420 28538420 C T rs746063003 SLC6A4 Synonymous SNV T409T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 160143 chr17 71443835 71443835 C T rs200244352 SDK2 Nonsynonymous SNV A178T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 160144 chr1 109840109 109840109 C A MYBPHL Nonsynonymous SNV R122L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.67 160145 chr19 10602259 10602259 A G rs200170293 KEAP1 Nonsynonymous SNV V440A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 160146 chr19 2291059 2291059 C T rs539053151 LINGO3 Synonymous SNV A239A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.09 160147 chr1 11159851 11159851 G A rs146839323 EXOSC10 Nonsynonymous SNV S13L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.16 160148 chr1 11298631 11298631 G A rs139687094 MTOR Synonymous SNV F610F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 9.851 160149 chr19 3179023 3179023 G A rs749257001 S1PR4 Nonsynonymous SNV R78Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 160150 chr17 3417226 3417226 C A rs75372730 TRPV3 Synonymous SNV P787P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 11.87 160151 chr19 12384431 12384431 A G ZNF44 Synonymous SNV R181R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.439 160152 chr19 13067904 13067904 G A GADD45GIP1 Synonymous SNV D41D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.385 160153 chr19 44771279 44771279 C G rs12971953 ZNF233 Nonsynonymous SNV L135V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.571 160154 chr17 73658791 73658791 C T rs202162742 RECQL5 Nonsynonymous SNV R180H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 160155 chr19 14167524 14167524 G A rs921154663 PALM3 Synonymous SNV P22P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.945 160156 chr17 37119246 37119246 C T rs140430888 FBXO47 Synonymous SNV L11L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.099 160157 chr1 12339658 12339658 G C rs770801713 VPS13D Nonsynonymous SNV G1518A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.731 160158 chr8 144654730 144654730 G T rs185255597 MROH6 Nonsynonymous SNV P52H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.989 160159 chr19 42937985 42937985 G A CXCL17 Stop gain R35X 0.002 0 0 0 2 0 0 0 0 0 0 0 34 160160 chr1 145474766 145474766 C T rs587622634 ANKRD34A Nonsynonymous SNV R480C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 160161 chr8 144998283 144998283 G A rs369816870 PLEC Synonymous SNV A1924A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.883 160162 chr8 145001746 145001746 G A rs377059744 PLEC Synonymous SNV D1182D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.599 160163 chr9 17502582 17502582 C G rs376726277 CNTLN Nonsynonymous SNV L1384V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 160164 chr16 77228735 77228735 C G MON1B Nonsynonymous SNV L181V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 160165 chr19 3831335 3831335 C T rs773650143 ZFR2 Nonsynonymous SNV C273Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 160166 chr17 76235179 76235179 T C TMEM235 Nonsynonymous SNV Y89H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 160167 chr19 44470036 44470036 C A rs142146138 ZNF221 Nonsynonymous SNV Q128K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.637 160168 chr1 151773712 151773712 G A LINGO4 Nonsynonymous SNV A490V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 160169 chr19 16763677 16763677 A G rs187108495 SMIM7 Nonsynonymous SNV I103T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3 160170 chr1 151991296 151991296 A G NBPF18P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.37 160171 chr19 48184400 48184400 C T rs545666349 BICRA Nonsynonymous SNV P658L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 160172 chr19 48253539 48253539 A G rs200507351 NOP53 Nonsynonymous SNV K132E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 160173 chr17 39520158 39520158 A G rs146349334 KRT33B Nonsynonymous SNV I382T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.355 160174 chr19 48699751 48699751 C T ZSWIM9 Synonymous SNV C810C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 160175 chr17 77808379 77808379 G T rs759961240 CBX4 Synonymous SNV A354A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.876 160176 chr9 2039777 2039788 CAGCAGCAGCAG - SMARCA2 Q235_Q238del 0.001 0 0 0 1 0 0 0 0 0 0 0 160177 chr19 44981236 44981236 T C rs148812167 ZNF180 Nonsynonymous SNV T463A 0.003 0 0 0 4 0 0 0 0 0 0 0 22 160178 chr19 44981800 44981800 T C rs73036497 ZNF180 Nonsynonymous SNV T275A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.001 160179 chr9 35608185 35608185 G A rs757292921 TESK1 Nonsynonymous SNV R115Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.69 160180 chr1 155004182 155004182 C T rs143867546 DCST2 Nonsynonymous SNV G203S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 160181 chr19 17559035 17559035 G C rs1039678434 TMEM221 Synonymous SNV L79L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 3.504 160182 chr9 5811278 5811278 A G ERMP1 Nonsynonymous SNV M387T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.28 160183 chr1 155295681 155295681 C T rs148123009 RUSC1 Nonsynonymous SNV S139F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 160184 chr1 155917781 155917781 C T rs140711313 ARHGEF2 Synonymous SNV P971P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.78 160185 chr9 38068162 38068162 G C rs199974314 SHB Nonsynonymous SNV L161V 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 23.2 160186 chr19 41699227 41699227 A G rs760565459 CYP2S1 Nonsynonymous SNV T20A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 160187 chr17 78450042 78450042 T G rs367787289 NPTX1 Nonsynonymous SNV K69Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 160188 chr1 1562782 1562782 C T rs202247285 MIB2 Nonsynonymous SNV P544L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.78 160189 chr17 78858816 78858816 C T rs34554642 RPTOR Synonymous SNV C617C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.949 160190 chr9 17394661 17394661 G A rs755706339 CNTLN Nonsynonymous SNV E737K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 160191 chr19 49969461 49969461 C T rs201941123 ALDH16A1 Nonsynonymous SNV A569V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 28.3 160192 chr19 45911501 45911501 C T rs752189100 CD3EAP Nonsynonymous SNV A94V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 160193 chr1 156814275 156814275 C G rs201243410 INSRR Nonsynonymous SNV A906P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 160194 chr17 79872182 79872182 C T rs199857799 SIRT7 Synonymous SNV G268G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.76 160195 chr1 158390525 158390525 G T OR10K2 Synonymous SNV I44I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.032 160196 chr17 42829321 42829321 G A rs368269973 DBF4B Nonsynonymous SNV R429H 0 0.005 0 0 0 2 0 0 0 0 0 0 3.496 160197 chr17 45452303 45452303 C T rs554788706 EFCAB13 Nonsynonymous SNV S352F 0 0.005 0 0 0 2 0 0 0 0 0 0 11.22 160198 chr17 8706748 8706748 C T rs201062021 PIK3R6 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 160199 chr9 99580866 99580866 C T ZNF782 Nonsynonymous SNV C456Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 160200 chr17 46700467 46700467 C T rs201792149 HOXB9 Nonsynonymous SNV R183H 0 0.005 0 0 0 2 0 0 0 0 0 0 35 160201 chr9 107528642 107528642 G A rs199946236 NIPSNAP3B Nonsynonymous SNV D33N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.689 160202 chr11 15726821 15726821 G A rs569142034 LOC102724957 Synonymous SNV K111K 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 7.991 160203 chr18 23632786 23632786 C G rs768199989 SS18 Nonsynonymous SNV G137R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.3 160204 chr9 94712154 94712154 G A rs745418749 ROR2 Nonsynonymous SNV T31I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.3 160205 chr19 48043460 48043460 C T rs777871177 ZNF541 Synonymous SNV P865P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 18.31 160206 chr1 172113667 172113667 C T rs554245035 DNM3OS 0 0 0.003 0 0 0 0 1 0 0 0 0 1.123 160207 chr19 48564701 48564701 A G rs184278110 PLA2G4C-AS1 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 1.75 160208 chr19 48593639 48593639 T A rs140118627 PLA2G4C Nonsynonymous SNV I259F 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 160209 chr19 36523220 36523220 G C CLIP3 Nonsynonymous SNV R14G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 160210 chr9 99522025 99522025 G T rs773758294 ZNF510 Nonsynonymous SNV P301T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.749 160211 chr9 100971128 100971128 G A rs138892519 TBC1D2 Nonsynonymous SNV R198W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 160212 chr17 58740432 58740432 C G rs775750934 PPM1D Stop gain S446X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 160213 chr19 51509729 51509729 C T rs200701550 KLK9 Nonsynonymous SNV V151M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 160214 chr18 34229331 34229331 G A rs1038498834 FHOD3 Nonsynonymous SNV E417K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 160215 chr1 177921112 177921112 C T rs369142539 CRYZL2P-SEC16B, SEC16B Synonymous SNV A153A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 160216 chr9 119858324 119858324 T C ASTN2 Synonymous SNV K374K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.19 160217 chr1 179965828 179965828 G A rs147004969 CEP350 Nonsynonymous SNV C179Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.827 160218 chr18 44184118 44184118 G A rs112969644 LOXHD1 Synonymous SNV D278D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 9.836 160219 chr19 55527078 55527078 T G rs202044825 GP6 Nonsynonymous SNV S232R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.8 160220 chr17 63156654 63156654 A G rs200798153 RGS9 Nonsynonymous SNV T105A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 160221 chr17 63156655 63156655 C G rs201997888 RGS9 Nonsynonymous SNV T105R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 28.6 160222 chr19 38799882 38799882 G T rs141058630 YIF1B Nonsynonymous SNV F113L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.01 160223 chr19 50154629 50154629 A C SCAF1 Nonsynonymous SNV Q328P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.1 160224 chr1 182775324 182775324 C T rs146376593 NPL Nonsynonymous SNV R63C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 160225 chr1 182785941 182785941 A G NPL Nonsynonymous SNV I134V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 160226 chr1 183096438 183096438 G A rs779959416 LAMC1 Nonsynonymous SNV V1008M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 30 160227 chr1 186086673 186086673 A G rs746063194 HMCN1 Synonymous SNV G3922G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 160228 chr9 129641876 129641876 G A rs765791838 ZBTB34 Synonymous SNV A62A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.17 160229 chr17 67190043 67190043 T C rs759222119 ABCA10 Nonsynonymous SNV N478S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 160230 chr19 51021558 51021558 G T rs781734948 LRRC4B Nonsynonymous SNV P471H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.358 160231 chr9 130473533 130473533 G A rs202146301 CFAP157 Nonsynonymous SNV V205M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 160232 chr19 41096887 41096887 A T rs749019406 SHKBP1 Nonsynonymous SNV H633L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 160233 chr9 117103932 117103932 C T rs138693566 AKNA Synonymous SNV G1197G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 160234 chr1 196879515 196879515 T A rs777012805 CFHR4 Nonsynonymous SNV Y302N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 160235 chr1 197111994 197111994 C T rs587783218 ASPM Nonsynonymous SNV S463N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 160236 chr1 197112334 197112334 G A ASPM Nonsynonymous SNV P350S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 160237 chr19 51509951 51509951 G A rs112211880 KLK9 Nonsynonymous SNV H77Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 160238 chr1 19934661 19934661 A C RPS14P3 0 0 0.003 0 0 0 0 1 0 0 0 0 3.41 160239 chr17 31439043 31439043 C T rs778829266 ASIC2 Nonsynonymous SNV E200K 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 24 160240 chr1 201178667 201178667 C T IGFN1 Nonsynonymous SNV T1549M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.963 160241 chr1 201182094 201182094 C T rs944465078 IGFN1 Synonymous SNV S2691S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.77 160242 chr19 4359958 4359958 G A rs574056829 MPND Nonsynonymous SNV V439I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 160243 chr1 201196023 201196023 G A rs568636537 IGFN1 Synonymous SNV V3600V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.478 160244 chr9 133943511 133943511 C T rs770821754 LAMC3 Synonymous SNV C880C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 16.32 160245 chr9 133962981 133962981 G A rs201826478 LAMC3 Nonsynonymous SNV R1450H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.8 160246 chr17 73127637 73127637 C T rs893720430 NT5C Nonsynonymous SNV D56N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.2 160247 chr9 126144401 126144401 G A rs377213936 DENND1A Synonymous SNV D791D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.176 160248 chr1 204971816 204971816 G A NFASC Nonsynonymous SNV V1077I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 160249 chr17 73723756 73723756 C T rs369326405 ITGB4 Nonsynonymous SNV R97W 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 25.5 160250 chr17 73737079 73737079 G A rs755869152 ITGB4 Nonsynonymous SNV G876R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 160251 chr1 206224569 206224569 T C AVPR1B Synonymous SNV T43T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 160252 chr1 206231001 206231001 G A rs782145142 AVPR1B Synonymous SNV T378T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 160253 chr19 53879043 53879043 T C rs62115350 ZNF525 Synonymous SNV D12D 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 0.559 160254 chr19 10116620 10116620 G A rs370928028 COL5A3 Nonsynonymous SNV R97W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 160255 chr17 37822171 37822171 G C rs146906267 TCAP Nonsynonymous SNV E105Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 160256 chr19 54410098 54410098 G C rs55803961 PRKCG Synonymous SNV V681V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Likely benign 11.02 160257 chr17 74154525 74154525 G A rs28672851 RNF157 Synonymous SNV S454S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 14.44 160258 chr17 37899280 37899280 G T rs147627069 GRB7 Nonsynonymous SNV V146L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 160259 chr1 207975681 207975681 - T rs141961287 MIR29B2CHG 0 0 0.014 0 0 0 0 4 0 0 0 0 160260 chr19 10273355 10273355 G A rs16999358 DNMT1 Synonymous SNV D316D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.966 160261 chr19 10291113 10291113 C G rs75616428 DNMT1 Nonsynonymous SNV V120L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.558 160262 chr17 74287527 74287527 - CTGCATCTGGGTATACCTGGTCATGCTCAC rs746534411 QRICH2 A927_A928insGEHDQVYPDA 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 160263 chr19 54723078 54723078 G A rs202146775 LILRB3 Nonsynonymous SNV S449L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 17.98 160264 chr9 131768786 131768786 G A rs150379581 NUP188 Synonymous SNV T1693T 0.009 0.005 0.003 0 11 2 0 1 0 0 0 0 15.93 160265 chr19 54754760 54754760 C T rs112549096 LILRB5 Nonsynonymous SNV A456T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.6 160266 chr19 45207425 45207425 G A rs750153629 CEACAM16 Nonsynonymous SNV A174T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 14.39 160267 chr9 139277995 139278000 GCTGCT - rs756232803 SNAPC4 S541_S542del 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 160268 chr19 10799892 10799892 C T rs141781310 ILF3 Synonymous SNV S863S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.58 160269 chr11 56230402 56230402 A C OR5M9 Nonsynonymous SNV L159R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.84 160270 chr9 135865103 135865103 C T rs767905800 GFI1B Nonsynonymous SNV P230L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 160271 chr17 39680718 39680718 G A rs148175649 KRT19 Synonymous SNV L245L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.02 160272 chr9 138683981 138683981 G A rs144679713 KCNT1 Nonsynonymous SNV E1204K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.1 160273 chr19 56113848 56113848 C T rs117202532 ZNF524 Nonsynonymous SNV P124S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 5.188 160274 chr9 138713459 138713459 G A rs117165081 CAMSAP1 Synonymous SNV D1016D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.162 160275 chr1 223815845 223815845 C A rs749074493 CAPN8 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 160276 chr19 48949696 48949696 C T GRWD1 Nonsynonymous SNV T81I 0.008 0 0 0 9 0 0 0 0 0 0 0 21.8 160277 chr19 49473044 49473044 G A rs755709141 GYS1 Synonymous SNV N562N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.02 160278 chr10 7751155 7751155 G C rs151229507 ITIH2 0 0.008 0.003 2 0 3 0.005 1 0 0 0 0 25.8 160279 chr1 228399619 228399619 G C rs375311214 OBSCN Nonsynonymous SNV K45N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 160280 chr10 11523832 11523832 T C rs758458936 USP6NL Nonsynonymous SNV I356V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.732 160281 chr10 12154929 12154929 G A rs117225135 DHTKD1 Nonsynonymous SNV G729R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 160282 chr19 16688320 16688320 G A rs367848015 MED26 Synonymous SNV G107G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.057 160283 chr10 12292330 12292330 C T rs373274209 CDC123 Synonymous SNV D335D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 160284 chr19 50270426 50270426 G A rs754100841 AP2A1 Synonymous SNV G12G 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 4.484 160285 chr19 50385612 50385612 G A rs369616958 TBC1D17 Synonymous SNV P218P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.066 160286 chr17 46655268 46655268 C T rs150391451 HOXB4 Synonymous SNV E138E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.247 160287 chr19 50826674 50826674 C T rs768870686 KCNC3 Synonymous SNV K436K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.848 160288 chr19 50831857 50831857 G A rs753744189 KCNC3 Synonymous SNV D85D 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 11.09 160289 chr1 230796533 230796533 T G rs16852160 COG2 Synonymous SNV L88L 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 10.26 160290 chr19 9237457 9237457 G T rs118114660 OR7G3 Nonsynonymous SNV T57N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 160291 chr1 230846218 230846218 C T rs369425934 AGT Nonsynonymous SNV V127M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 160292 chr1 231344871 231344871 C T rs184049035 TRIM67 Synonymous SNV P666P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.29 160293 chr19 860654 860654 G C rs747489118 CFD Nonsynonymous SNV E38D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.45 160294 chr1 23280360 23280360 - GC rs753628430 LACTBL1 Frameshift insertion L306Afs*167 0 0.003 0.01 0 0 1 0 3 0 0 0 0 160295 chr19 9523995 9523995 G A rs776589474 ZNF266 Stop gain R536X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 160296 chr19 51528897 51528897 G C rs61750341 KLK11 Synonymous SNV P29P 0.008 0 0 2 9 0 0.005 0 0 0 0 0 5.44 160297 chr17 48540822 48540822 A G ACSF2 Nonsynonymous SNV T159A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 160298 chr19 6427170 6427170 C T SLC25A41 Nonsynonymous SNV C295Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 160299 chr17 4925481 4925481 C T rs138935423 KIF1C Nonsynonymous SNV T702I 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Benign/Likely benign 25.8 160300 chr1 242030355 242030355 G A rs148510810 EXO1 Nonsynonymous SNV S422N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 160301 chr19 18378321 18378321 G A rs149409593 IQCN Nonsynonymous SNV S10F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.953 160302 chr1 245927381 245927381 G C SMYD3 Nonsynonymous SNV Q383E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 160303 chr17 56621331 56621331 G C rs768398346 SEPTIN4 Nonsynonymous SNV L73V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 2.999 160304 chr1 247492058 247492058 A G ZNF496 Synonymous SNV D167D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.764 160305 chr1 11169736 11169736 T C MTOR Nonsynonymous SNV T2473A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 160306 chr19 2223397 2223397 C T rs770631816 DOT1L Nonsynonymous SNV R1170W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 160307 chr10 29811548 29811548 C T rs139901296 SVIL Synonymous SNV E634E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.12 160308 chr18 45567259 45567259 C T rs751782036 ZBTB7C Nonsynonymous SNV V74I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.2 160309 chr19 53577422 53577422 G A rs116367935 ZNF160 Nonsynonymous SNV T81M 0.008 0 0 1 9 0 0.003 0 0 0 0 0 0.031 160310 chr1 248028226 248028226 G A TRIM58 Nonsynonymous SNV G246S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 160311 chr19 2435101 2435101 C G rs372552710 LMNB2 Nonsynonymous SNV E251D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.87 160312 chr1 101198111 101198111 C G rs114207303 VCAM1 Nonsynonymous SNV L463V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.07 160313 chr18 55398936 55398936 T C rs750811791 ATP8B1 Nonsynonymous SNV D35G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 13.99 160314 chr1 118550809 118550809 C A rs587783068 SPAG17 Nonsynonymous SNV R1482L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.877 160315 chr19 33697122 33697122 C T rs200274257 LRP3 Synonymous SNV D482D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.728 160316 chr19 3548157 3548157 G A rs551272204 MFSD12 Synonymous SNV S197S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.26 160317 chr10 49659043 49659043 T C ARHGAP22 Nonsynonymous SNV R287G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.167 160318 chr19 36159322 36159322 C T rs144559702 UPK1A-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.351 160319 chr10 72513648 72513648 A G rs143456400 ADAMTS14 Nonsynonymous SNV N941S 0.002 0.005 0.003 3 2 2 0.008 1 1 0 0 0 23.8 160320 chr1 31438869 31438869 G A rs769577712 PUM1 Synonymous SNV G682G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 160321 chr1 33138294 33138294 G A rs147381383 RBBP4 Synonymous SNV E364E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.08 160322 chr1 33160687 33160687 C T rs564899220 SYNC Nonsynonymous SNV D338N 0 0 0.007 0 0 0 0 2 0 0 0 0 23 160323 chr19 56369657 56369657 C T rs147977916 NLRP4 Nonsynonymous SNV R300W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 160324 chr10 70451064 70451064 G A rs150437059 TET1 Synonymous SNV E1968E 0.009 0.003 0.003 0 11 1 0 1 0 0 0 0 Benign 9.356 160325 chr1 36773787 36773787 G T rs913371873 SH3D21 Nonsynonymous SNV D95Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.4 160326 chr1 36945038 36945038 G A rs773341373 CSF3R Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 160327 chr1 1154216 1154216 C T SDF4 Synonymous SNV S223S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.44 160328 chr1 38227465 38227465 C G rs200374722 EPHA10 Synonymous SNV T154T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.893 160329 chr10 93999880 93999880 C G rs564766384 CPEB3 Synonymous SNV P76P 0.002 0.01 0 4 2 4 0.01 0 0 0 0 0 10.88 160330 chr10 94238452 94238452 G A rs1016423850 IDE Nonsynonymous SNV R57C 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 16.01 160331 chr17 74563576 74563576 C T rs551933129 ST6GALNAC2 Nonsynonymous SNV G306R 0 0 0 1 0 0 0.003 0 0 0 0 0 35 160332 chr10 97443290 97443290 T C rs776333324 TCTN3 Nonsynonymous SNV I250V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 160333 chr19 4047969 4047969 C T rs572062539 ZBTB7A Synonymous SNV P512P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 12.06 160334 chr11 113678829 113678829 C T USP28 Nonsynonymous SNV M445I 0.003 0 0 5 3 0 0.013 0 0 0 0 0 20.1 160335 chr10 99130722 99130722 T G RRP12 Synonymous SNV T720T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.129 160336 chr1 119965084 119965084 A C rs34412477 HSD3B2 Synonymous SNV T320T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 160337 chr1 45475274 45475274 C A rs758576797 HECTD3 Nonsynonymous SNV V281L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 160338 chr1 14104943 14104943 C G PRDM2 Nonsynonymous SNV A17G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.37 160339 chr17 76495250 76495250 C T rs117146460 DNAH17-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 8.272 160340 chr1 46768953 46768953 G A rs1006007188 LRRC41 Synonymous SNV F14F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 160341 chr11 118107860 118107860 G A rs754968908 MPZL3 Nonsynonymous SNV T107I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 160342 chr19 42827927 42827927 C G rs143263887 TMEM145 Nonsynonymous SNV P477A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.32 160343 chr10 102763509 102763509 C T rs78785945 LZTS2 Synonymous SNV S218S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.32 160344 chr11 118850338 118850338 C T rs782429601 FOXR1 Nonsynonymous SNV P191S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 160345 chr11 119001574 119001574 T C rs150010977 HINFP Synonymous SNV A107A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.999 160346 chr11 119243957 119243957 G A rs138072155 USP2 Synonymous SNV R78R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 3.947 160347 chr19 12463825 12463825 G A rs749213370 ZNF442 Nonsynonymous SNV T61I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.5 160348 chr19 44419029 44419029 C T rs1047452 ZNF45 Nonsynonymous SNV A187T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.337 160349 chr10 98411297 98411297 T C PIK3AP1 Nonsynonymous SNV N275S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.965 160350 chr19 8190852 8190852 G A rs780322998 FBN3 Synonymous SNV C885C 0.002 0 0 0 2 0 0 0 0 0 0 0 5.023 160351 chr1 6150451 6150451 C T KCNAB2 Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 160352 chr10 115411576 115411576 G A rs768264109 NRAP Stop gain Q221X 0 0 0 2 0 0 0.005 0 0 0 0 0 37 160353 chr19 8436373 8436373 C T rs140744493 ANGPTL4 Nonsynonymous SNV R298C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 160354 chr10 118360713 118360713 C T rs782060472 PNLIPRP1 Nonsynonymous SNV R355C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 160355 chr19 45575075 45575075 G A rs561288474 ZNF296 Synonymous SNV H404H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.167 160356 chr10 102789920 102789920 G A rs746982179 PDZD7 Synonymous SNV S19S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 160357 chr1 157648520 157648520 A G rs780249336 FCRL3 Synonymous SNV L729L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.082 160358 chr1 68904661 68904661 T C RPE65 Nonsynonymous SNV N321S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.202 160359 chr10 104163627 104163627 C T rs140739855 PSD Nonsynonymous SNV R939Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 160360 chr10 104486780 104486780 G A rs770461782 SFXN2 Synonymous SNV Q66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 160361 chr1 75072553 75072553 C A ERICH3 Synonymous SNV P407P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 160362 chr19 48305567 48305567 G A rs199789805 TPRX1 Nonsynonymous SNV P234L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.428 160363 chr12 2061955 2061955 C T rs150033205 DCP1B Nonsynonymous SNV R384H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 16.89 160364 chr10 115348000 115348000 G A rs143492790 HABP2 Nonsynonymous SNV G493S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.9 160365 chr12 5021487 5021487 C T rs71582857 KCNA1 Synonymous SNV L315L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.361 160366 chr1 8926406 8926406 T A ENO1 Nonsynonymous SNV Y107F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 160367 chr19 1827503 1827503 G A rs12984503 REXO1 Nonsynonymous SNV R429W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 160368 chr1 89728416 89728416 G A GBP5 Nonsynonymous SNV A472V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 160369 chr1 17928672 17928672 G C rs116646138 ARHGEF10L Nonsynonymous SNV G103A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.006 160370 chr19 49442868 49442868 A G rs753494372 DHDH Nonsynonymous SNV I177V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 160371 chr10 121598071 121598071 C A MCMBP Stop gain E462X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 160372 chr19 49793500 49793500 C T rs753409719 SLC6A16 Nonsynonymous SNV M697I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 160373 chr1 108023408 108023408 A G rs377465185 NTNG1 Synonymous SNV P421P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.012 160374 chr19 50360261 50360261 C T rs949233393 PTOV1 Synonymous SNV S196S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.94 160375 chr12 10862598 10862609 GGGCGATACTGG - rs754964598 YBX3 P230_R233del 0 0 0 1 0 0 0.003 0 0 0 0 0 160376 chr1 18809743 18809743 G A rs762203639 KLHDC7A Synonymous SNV P756P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.528 160377 chr10 134218872 134218872 G A rs779813372 PWWP2B Nonsynonymous SNV G290S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.73 160378 chr1 193050527 193050527 G T RO60 Nonsynonymous SNV A99S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 160379 chr20 18163889 18163889 G A rs946953402 KAT14 Nonsynonymous SNV R644Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 160380 chr10 134660712 134660712 G A rs374808085 CFAP46 Synonymous SNV C2022C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.287 160381 chr1 11182038 11182038 G A MTOR Nonsynonymous SNV R2270W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 160382 chr20 23029271 23029271 G T rs777544540 THBD Nonsynonymous SNV L291I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 160383 chr1 17422428 17422428 C G PADI2 Synonymous SNV V129V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.37 160384 chr20 25319929 25319929 T C rs776224682 ABHD12 Nonsynonymous SNV I84V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 160385 chr1 17609448 17609448 G A rs2293920 PADI3 Synonymous SNV P623P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.36 160386 chr12 27556389 27556389 A G rs35878285 ARNTL2 Nonsynonymous SNV S464G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.072 160387 chr20 31099040 31099040 G T rs576520015 LOC101929698 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 160388 chr1 117491976 117491976 C T rs781003149 PTGFRN Nonsynonymous SNV A332V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 160389 chr11 554065 554065 A G LRRC56 Nonsynonymous SNV Q473R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 160390 chr1 179079420 179079420 G A rs148985886 ABL2 Nonsynonymous SNV P587S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.1 160391 chr1 203276437 203276437 C T rs61749326 BTG2 Synonymous SNV D116D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.94 160392 chr1 18023656 18023656 C T rs761203478 ARHGEF10L Synonymous SNV D910D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.35 160393 chr1 1198736 1198736 G A rs141625822 UBE2J2 Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.611 160394 chr1 180953829 180953829 T C rs959491970 STX6 Synonymous SNV V124V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.03 160395 chr20 43090720 43090720 A G LINC01620 0 0 0.003 0 0 0 0 1 0 0 0 0 0.804 160396 chr1 185972940 185972940 C T rs58293393 HMCN1 Nonsynonymous SNV T1480I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 17.9 160397 chr1 186113330 186113330 G C rs74136049 HMCN1 Nonsynonymous SNV Q4650H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 21.1 160398 chr20 44538289 44538289 G A rs748538594 PLTP Synonymous SNV N29N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 160399 chr20 44756826 44756826 G T CD40 Nonsynonymous SNV D183Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.072 160400 chr1 19181336 19181336 C G rs200290887 TAS1R2 Nonsynonymous SNV V210L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.741 160401 chr1 201190640 201190640 G A IGFN1 Nonsynonymous SNV A3323T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.42 160402 chr20 47882714 47882714 C T ZNFX1 Nonsynonymous SNV V654I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 160403 chr1 152777850 152777850 A - LCE1C K36Sfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 160404 chr11 5410759 5410759 T A OR51M1 Nonsynonymous SNV F44Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.544 160405 chr19 57326680 57326680 C T rs200998688 PEG3 Nonsynonymous SNV E889K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.878 160406 chr1 223957545 223957545 G A rs139113564 CAPN2 Synonymous SNV S508S 0.003 0 0 0 3 0 0 0 0 0 0 0 9.58 160407 chr19 12243995 12243995 C G rs61745731 ZNF20 Nonsynonymous SNV E333Q 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 26.8 160408 chr1 226342315 226342315 T C rs775775456 ACBD3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.827 160409 chr11 2424492 2424492 - G rs775740004 TSSC4 Frameshift insertion R212Efs*58 0.001 0 0 1 1 0 0.003 0 0 0 0 0 160410 chr1 156622746 156622746 C T rs754812274 BCAN Synonymous SNV L668L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.43 160411 chr1 211956809 211956809 G A rs563067323 LPGAT1 Synonymous SNV L163L 0.002 0.013 0 0 2 5 0 0 0 0 0 0 10.21 160412 chr20 61917729 61917729 C T rs148572853 ARFGAP1 Nonsynonymous SNV S362L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.15 160413 chr11 6532625 6532625 G A rs148449070 DNHD1 Nonsynonymous SNV R453H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.3 160414 chr1 20645120 20645120 C T rs200590934 VWA5B1 Synonymous SNV A249A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.81 160415 chr11 6561219 6561219 C T rs368168152 DNHD1 Synonymous SNV Y1178Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 10.87 160416 chr11 6570148 6570148 C T rs200281955 DNHD1 Nonsynonymous SNV H2458Y 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 28.9 160417 chr20 62198206 62198206 G A rs376282035 HELZ2 Synonymous SNV H266H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.367 160418 chr1 206821585 206821585 C T rs567048952 DYRK3 Nonsynonymous SNV R348C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.8 160419 chr1 207108001 207108001 G A rs143631902 PIGR Nonsynonymous SNV S490L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 28.6 160420 chr19 6415657 6415657 G A rs140018828 KHSRP Synonymous SNV P592P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.712 160421 chr19 6422423 6422423 C A rs61751242 KHSRP Nonsynonymous SNV A92S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.614 160422 chr19 6454696 6454696 C T rs764897151 SLC25A23 Synonymous SNV P172P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.2 160423 chr19 651619 651619 C T rs368620647 RNF126 Synonymous SNV T145T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.98 160424 chr1 228559519 228559519 C T OBSCN Nonsynonymous SNV P7014S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 160425 chr1 228562031 228562031 G A rs76141831 OBSCN Synonymous SNV R7467R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.88 160426 chr1 228595953 228595953 C T rs61737802 TRIM17 Synonymous SNV P461P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.34 160427 chr1 228602522 228602522 G A rs61737799 TRIM17 Synonymous SNV A84A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.071 160428 chr20 7875828 7875828 G A HAO1 Synonymous SNV I255I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.1 160429 chr11 7656808 7656808 C T rs141812869 PPFIBP2 Nonsynonymous SNV P264L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.415 160430 chr20 9510337 9510337 C T rs373796071 LAMP5 Nonsynonymous SNV P194L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 160431 chr1 230814698 230814698 C T rs200705175 COG2 Nonsynonymous SNV R356W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 160432 chr1 22176915 22176915 C T rs146309392 HSPG2 Nonsynonymous SNV S2413N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.49 160433 chr1 230845901 230845901 A G rs56010258 AGT Synonymous SNV P232P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 160434 chr1 160063910 160063910 C T IGSF8 Nonsynonymous SNV R165H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 160435 chr1 231155784 231155784 G C rs148621394 FAM89A Nonsynonymous SNV A127G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.6 160436 chr1 160210111 160210111 C T DCAF8 Synonymous SNV R33R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.05 160437 chr1 160314585 160314585 G A rs145955020 NCSTN Synonymous SNV L53L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.822 160438 chr11 7981994 7981994 C T rs763875533 NLRP10 Nonsynonymous SNV V389I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.169 160439 chr1 234565368 234565368 T C rs142271660 TARBP1 Nonsynonymous SNV I889V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.945 160440 chr11 9080917 9080917 G A rs148143116 SCUBE2 Synonymous SNV I341I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.99 160441 chr19 17330456 17330456 T C USE1 Nonsynonymous SNV L205P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 160442 chr21 31874311 31874311 C A rs138658815 KRTAP19-5 Nonsynonymous SNV R33L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 160443 chr21 32638381 32638381 T A rs772534438 TIAM1 Nonsynonymous SNV N303I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 160444 chr1 226026972 226026972 G A rs542434391 EPHX1 Nonsynonymous SNV G216D 0.003 0 0 0 3 0 0 0 0 0 0 0 28.9 160445 chr21 36411292 36411292 T C rs57214149 RUNX1-IT1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.526 160446 chr19 49362772 49362772 T C rs35473731 PLEKHA4 Nonsynonymous SNV T216A 0.003 0.008 0.003 4 4 3 0.01 1 0 0 0 0 0.001 160447 chr21 37618969 37618969 C G DOP1B Nonsynonymous SNV S1564C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 160448 chr1 222801605 222801605 A T rs776382957 MIA3 Nonsynonymous SNV E348V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.9 160449 chr19 18172004 18172004 G A rs17885102 IL12RB1 Synonymous SNV A573A 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign/Likely benign 8.286 160450 chr1 170928637 170928637 T C rs190370710 MROH9 Synonymous SNV L63L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.232 160451 chr1 245019205 245019207 CCT - rs575582638 HNRNPU A704Pfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 160452 chr1 228563773 228563773 C T rs200487547 OBSCN Synonymous SNV S7617S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.44 160453 chr21 43531568 43531568 A G rs200915652 UMODL1 Nonsynonymous SNV S674G 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 0.005 160454 chr1 227077741 227077741 G A rs199707432 PSEN2 Nonsynonymous SNV V265M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.58 160455 chr1 22921794 22921794 C T rs200214765 EPHA8 Nonsynonymous SNV L559F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 160456 chr1 22927237 22927237 C T rs375075754 EPHA8 Synonymous SNV F824F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 160457 chr1 228353625 228353625 C T IBA57 Synonymous SNV C36C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.964 160458 chr21 44479030 44479030 G A rs141717913 CBS, CBSL Synonymous SNV T319T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.609 160459 chr21 45949798 45949798 C T rs146216896 TSPEAR Nonsynonymous SNV A225T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 160460 chr1 22920095 22920095 C T rs182997024 EPHA8 Nonsynonymous SNV R507C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 160461 chr11 36615352 36615352 G A rs147319483 RAG2 Nonsynonymous SNV R123C 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 160462 chr21 46705749 46705749 T C rs375161420 POFUT2 Nonsynonymous SNV T76A 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 0.439 160463 chr19 9434899 9434899 T G ZNF559 Synonymous SNV R15R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.751 160464 chr21 47410322 47410404 GTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA - COL6A1 V330_K334del 0 0 0.003 0 0 0 0 1 0 0 0 0 160465 chr19 9639062 9639062 A C rs139593434 ZNF426 Nonsynonymous SNV I515M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 160466 chr21 47541509 47541509 G C rs770222615 COL6A2 Nonsynonymous SNV D500H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 160467 chr11 44286487 44286487 C T rs748187496 ALX4 Nonsynonymous SNV E385K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 28.1 160468 chr1 10363509 10363509 C T rs771399291 KIF1B Nonsynonymous SNV R756W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.52 160469 chr22 19122632 19122632 A T rs144058409 ESS2 Synonymous SNV A364A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.128 160470 chr22 20194603 20194603 C T rs186878851 LINC00896 0 0 0.014 0 0 0 0 4 0 0 0 0 12.17 160471 chr22 21800467 21800467 G A rs145951187 HIC2 Nonsynonymous SNV R428Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 160472 chr11 18636394 18636394 C A SPTY2D1 Nonsynonymous SNV R476L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 160473 chr1 2429964 2429964 G A rs372629579 PLCH2 Nonsynonymous SNV V716M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.071 160474 chr19 36530383 36530383 C T rs776227508 THAP8 Nonsynonymous SNV G172R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.33 160475 chr11 20639339 20639339 G T rs140296233 SLC6A5 Nonsynonymous SNV G156V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 160476 chr1 245019804 245019804 C A HNRNPU Nonsynonymous SNV V604L 0.004 0 0 0 5 0 0 0 0 0 0 0 23.6 160477 chr1 248685320 248685320 G A OR2G6 Nonsynonymous SNV A125T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 160478 chr19 54973424 54973424 G A rs780647996 LENG9 Nonsynonymous SNV A451V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 160479 chr1 24706274 24706274 C T rs41300112 STPG1 Nonsynonymous SNV A64T 0.003 0 0 0 4 0 0 0 0 0 0 0 24.8 160480 chr1 26507077 26507077 C T rs200570653 CNKSR1 Synonymous SNV G62G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 160481 chr1 201777799 201777799 C G rs201931413 MIR1231 0.003 0 0 0 3 0 0 0 0 0 0 0 2.885 160482 chr1 120438492 120438492 T C ADAM30 Synonymous SNV E156E 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.008 160483 chr1 12069719 12069719 A G rs779574187 MFN2 Nonsynonymous SNV I714V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 160484 chr22 31483985 31483985 G A rs145193216 SMTN Nonsynonymous SNV R85H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 160485 chr22 31487354 31487354 G A rs114164619 SMTN Nonsynonymous SNV G505S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.566 160486 chr22 31521988 31521988 C T rs551093566 INPP5J Synonymous SNV P421P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 160487 chr1 203014648 203014648 G A rs370608106 PPFIA4 Synonymous SNV S273S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.23 160488 chr1 203188409 203188409 C A CHIT1 Nonsynonymous SNV V303L 0.003 0 0 0 3 0 0 0 0 0 0 0 29.1 160489 chr1 248202425 248202425 C A OR2L2 Nonsynonymous SNV P286T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 160490 chr22 31946300 31946300 G A rs61729922 SFI1 Synonymous SNV E88E 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 9.849 160491 chr11 46958401 46958401 G A rs772009767 C11orf49 Nonsynonymous SNV G41S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 160492 chr11 47296245 47296245 G A rs569401772 MADD Nonsynonymous SNV R65Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 160493 chr1 150443518 150443518 C T rs751404098 RPRD2 Synonymous SNV S672S 0.004 0 0 0 5 0 0 0 0 0 0 0 12.47 160494 chr1 33998774 33998774 A G CSMD2 Synonymous SNV D3205D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.143 160495 chr1 43770683 43770683 C T TIE1 Nonsynonymous SNV P29S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 5.69 160496 chr1 3427407 3427407 C T MEGF6 Nonsynonymous SNV G392R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 160497 chr19 57088876 57088876 G A rs200300611 ZNF470 Nonsynonymous SNV R360K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.4 160498 chr1 151747272 151747272 G A TDRKH Nonsynonymous SNV T516I 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 160499 chr19 57133345 57133345 C T rs375499921 ZNF71 Synonymous SNV T230T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 11.15 160500 chr1 44156590 44156590 A G KDM4A Synonymous SNV P704P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 9.704 160501 chr22 38220860 38220860 G C rs201220537 GALR3 Nonsynonymous SNV V164L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 20.2 160502 chr22 40038840 40038840 C T rs57495596 CACNA1I Synonymous SNV Y365Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 160503 chr22 40066958 40066958 C T rs8141262 CACNA1I Nonsynonymous SNV T1478M 0.009 0.003 0.017 6 10 1 0.015 5 0 0 1 0 25 160504 chr1 153750773 153750773 C T SLC27A3 Nonsynonymous SNV A433V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 160505 chr1 47133752 47133752 G T ATPAF1 Synonymous SNV R104R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 14.41 160506 chr1 47137631 47137631 C A TEX38 Nonsynonymous SNV R9S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.164 160507 chr1 47498961 47498961 G A rs116257861 CYP4X1 Nonsynonymous SNV R137H 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 16.2 160508 chr22 43471561 43471561 A G rs370302008 TTLL1 Nonsynonymous SNV I11T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.9 160509 chr1 154573993 154573993 G A rs145166589 ADAR Synonymous SNV T80T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.292 160510 chr1 31347238 31347238 C T rs149952786 SDC3 Synonymous SNV P356P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.81 160511 chr22 45258284 45258284 G C rs41278887 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV E371Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 17.07 160512 chr1 3342157 3342157 C T rs200234106 PRDM16 Synonymous SNV C984C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 16.37 160513 chr13 78477314 78477314 C A rs77132068 EDNRB Nonsynonymous SNV V260F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.12 160514 chr22 45691554 45691554 C T rs121918186 UPK3A Nonsynonymous SNV P152L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 3.383 160515 chr1 44436853 44436853 - T DPH2 Star tloss A160Cfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 160516 chr1 45249990 45249990 G T rs759536145 BEST4 Synonymous SNV R438R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.329 160517 chr22 50616080 50616080 C T PANX2 Synonymous SNV F313F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.774 160518 chr1 46496378 46496378 G T rs371392889 MAST2 Nonsynonymous SNV G885C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 160519 chr22 50694089 50694089 C T rs763911823 MAPK12 Synonymous SNV T232T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 160520 chr22 50753260 50753260 G A rs202080552 DENND6B Synonymous SNV D283D 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 13.97 160521 chr22 50964542 50964542 C A TYMP Synonymous SNV P396P 0 0 0.003 0 0 0 0 1 0 0 0 0 23 160522 chr13 110437441 110437441 G C IRS2 Synonymous SNV P320P 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 7.504 160523 chr1 41283895 41283895 A C rs145129529 KCNQ4 Synonymous SNV G155G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 8.482 160524 chr1 228346699 228346699 C G rs769684659 GJC2 Nonsynonymous SNV R414G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 15.02 160525 chr1 159752046 159752046 A T rs11544443 DUSP23 Nonsynonymous SNV E124V 0.005 0.01 0 2 6 4 0.005 0 0 0 0 0 25.1 160526 chr1 7724415 7724415 G C rs779775105 CAMTA1 Nonsynonymous SNV G573A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.194 160527 chr1 44684264 44684264 G A rs141586055 DMAP1 Nonsynonymous SNV R186H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 160528 chr1 228566324 228566324 G T rs763975876 OBSCN Nonsynonymous SNV R7912L 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 33 160529 chr1 16258070 16258070 G A rs140024761 SPEN Nonsynonymous SNV A1779T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.001 160530 chr14 21052270 21052270 G A rs144501463 RNASE11 Nonsynonymous SNV R122C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.26 160531 chr1 230846187 230846187 G A rs34829218 AGT Nonsynonymous SNV T137M 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Benign/Likely benign 3.564 160532 chr2 120395872 120395872 T G rs200447095 CFAP221 Nonsynonymous SNV L671R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 160533 chr1 233802456 233802456 C T rs200539357 KCNK1 Synonymous SNV T157T 0.005 0 0 0 6 0 0 0 0 0 0 0 14.23 160534 chr11 59574270 59574270 A G rs138457344 MRPL16 Synonymous SNV F102F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.393 160535 chr11 60229957 60229957 T G MS4A1 Nonsynonymous SNV L37R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.678 160536 chr11 61032025 61032025 C A VWCE Nonsynonymous SNV V722F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 160537 chr2 141116494 141116494 G C LRP1B Nonsynonymous SNV T3718R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 160538 chr14 24780024 24780024 C A rs754003053 LTB4R2 Synonymous SNV R52R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.35 160539 chr11 61912660 61912660 C T rs775669598 INCENP Nonsynonymous SNV R575C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 160540 chr2 152276741 152276741 G A rs201962513 RIF1 Nonsynonymous SNV A181T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 160541 chr11 62415834 62415834 C T rs763874581 INTS5 Nonsynonymous SNV R573Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.848 160542 chr1 8419843 8419854 CGCTCCCGCTCT - rs778061502 RERE R644_E647del 0.001 0.008 0 6 1 3 0.015 0 0 0 0 0 160543 chr2 152531042 152531042 G A rs753005851 NEB Synonymous SNV G1312G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.9 160544 chr2 15307277 15307277 G A rs200784608 NBAS Synonymous SNV A2337A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.396 160545 chr1 981901 981901 A G rs769740475 AGRN Synonymous SNV A1012A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 160546 chr2 15614352 15614352 A G rs140555177 NBAS Nonsynonymous SNV S480P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 160547 chr1 985070 985070 G A rs2799068 AGRN Nonsynonymous SNV E1547K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 160548 chr11 63488351 63488351 C T rs143160052 RTN3 Synonymous SNV L681L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.241 160549 chr2 158958602 158958602 T C rs766701527 UPP2 Synonymous SNV N9N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 160550 chr1 179078052 179078052 T A rs55892721 ABL2 Nonsynonymous SNV T763S 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Likely benign 22.9 160551 chr11 64111923 64111923 A C rs760615945 CCDC88B Nonsynonymous SNV E637A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.926 160552 chr1 110882536 110882536 A G rs139502540 RBM15 Nonsynonymous SNV K170R 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 24.8 160553 chr2 162357623 162357623 C A rs536050928 AHCTF1P1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.981 160554 chr11 64678138 64678138 G T rs753851225 ATG2A Synonymous SNV R553R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.74 160555 chr2 166626784 166626784 G A GALNT3 Nonsynonymous SNV R143C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 160556 chr1 182026837 182026837 C G rs143029059 ZNF648 Nonsynonymous SNV W103C 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 23.3 160557 chr2 171300519 171300519 G T MYO3B Nonsynonymous SNV S898I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 160558 chr1 186280637 186280637 A G rs140871526 PRG4 Synonymous SNV K1100K 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 2.912 160559 chr20 23346052 23346052 C T rs1038977520 GZF1 Synonymous SNV T344T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.805 160560 chr2 176032376 176032376 G A rs79402775 MIR933 0 0 0.034 0 0 0 0 10 0 0 0 0 8.276 160561 chr1 93160943 93160945 GAT - rs776200762 EVI5 S322del 0.002 0 0 0 2 0 0 0 0 0 0 0 160562 chr2 176964559 176964559 C T HOXD12 Synonymous SNV G10G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 160563 chr14 57075976 57075976 C T rs10137799 TMEM260 Synonymous SNV L263L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.87 160564 chr14 57103237 57103237 C T rs201705257 TMEM260 Nonsynonymous SNV P597L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 160565 chr11 100912736 100912736 T C rs2020878 PGR Synonymous SNV G596G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 6.682 160566 chr14 59930916 59930916 - CA rs113897239 GPR135 Frameshift insertion W344Afs*33 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 160567 chr14 59950910 59950910 A G rs17096291 L3HYPDH Nonsynonymous SNV V42A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 13.15 160568 chr20 10621477 10621477 G A rs754593633 JAG1 Synonymous SNV A1051A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 160569 chr2 179648982 179648982 C T rs375659512 TTN Nonsynonymous SNV V818M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 160570 chr1 200549471 200549471 G A rs749592963 KIF14 Nonsynonymous SNV R635W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 160571 chr20 33370158 33370158 T C rs763432495 NCOA6 Star tloss M1? 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.7 160572 chr20 33585244 33585244 G A rs779672127 MYH7B Nonsynonymous SNV R1225Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.3 160573 chr11 71202902 71202902 G A rs144139747 NADSYN1 Nonsynonymous SNV A573T 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 27.4 160574 chr20 35219540 35219540 A G rs752938737 TGIF2 Synonymous SNV E140E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.203 160575 chr2 18757484 18757484 T C rs765305556 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV Y434C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 160576 chr20 36625225 36625225 G A rs150253333 TTI1 Nonsynonymous SNV S975L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 160577 chr11 74554495 74554495 G A rs200561399 XRRA1 Nonsynonymous SNV A435V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 160578 chr14 70346468 70346468 C T SMOC1 Nonsynonymous SNV R25C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.9 160579 chr11 117160452 117160452 T C rs750231650 BACE1 Nonsynonymous SNV N346D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 160580 chr14 70989964 70989964 T C rs45554935 ADAM20 Nonsynonymous SNV Y504C 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23.6 160581 chr1 204091467 204091467 C G rs201524589 SOX13 Nonsynonymous SNV P322A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 17.82 160582 chr1 35835984 35835984 A G rs143071533 ZMYM4 Nonsynonymous SNV T313A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.45 160583 chr20 20350288 20350288 C T INSM1 Synonymous SNV H459H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 160584 chr11 82924079 82924079 G A rs181314592 ANKRD42 Synonymous SNV R215R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.764 160585 chr14 75248171 75248171 T G rs531377195 YLPM1 Synonymous SNV L475L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.417 160586 chr20 43752809 43752809 C T rs138233621 WFDC12 Synonymous SNV R59R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.322 160587 chr1 39851371 39851371 G A rs747137288 MACF1 Nonsynonymous SNV R2643Q 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 21.9 160588 chr1 155015894 155015894 G C rs142119011 DCST1 Nonsynonymous SNV D336H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 20.9 160589 chr20 44698935 44698935 T C NCOA5 Synonymous SNV L93L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.072 160590 chr14 77935582 77935582 G A rs146176111 AHSA1 Nonsynonymous SNV R201H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.5 160591 chr11 123865025 123865025 G A rs565065250 OR10G6 Nonsynonymous SNV R282W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 160592 chr14 86088848 86088848 A G rs17121377 FLRT2 Synonymous SNV S330S 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 Benign 0.319 160593 chr1 211751869 211751869 C T SLC30A1 Nonsynonymous SNV S29N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.3 160594 chr20 3096011 3096011 G C rs756429435 UBOX5 Nonsynonymous SNV Q453E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 160595 chr1 44071246 44071246 A G rs368161767 PTPRF Nonsynonymous SNV M842V 0.005 0 0 0 6 0 0 0 1 0 0 0 0.348 160596 chr2 21235291 21235291 T C rs151018874 APOB Synonymous SNV E1483E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.084 160597 chr2 215593574 215593574 G A rs137888190 BARD1 Synonymous SNV V207V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.763 160598 chr2 216229671 216229671 G A rs151174151 FN1 Synonymous SNV H2188H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 12.77 160599 chr11 102649943 102649943 C T rs916334650 MMP10 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 160600 chr2 218745709 218745709 G T TNS1 Nonsynonymous SNV S322R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 160601 chr2 219209227 219209227 C T PNKD Synonymous SNV P282P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 160602 chr1 220232191 220232191 G A rs149911255 BPNT1 Nonsynonymous SNV P253S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 160603 chr20 35282083 35282083 C T rs750741032 NDRG3 Nonsynonymous SNV R311Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 160604 chr20 2777257 2777257 G A rs138560626 CPXM1 Nonsynonymous SNV R321C 0.002 0 0 0 2 0 0 0 0 0 0 0 31 160605 chr20 31019129 31019129 A G rs765190948 ASXL1 Nonsynonymous SNV M181V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.919 160606 chr20 31023721 31023721 T G ASXL1 Nonsynonymous SNV V1008G 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 160607 chr11 134022871 134022871 G A rs755637163 NCAPD3 Nonsynonymous SNV L1351F 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 160608 chr20 36758680 36758680 C T rs150186613 TGM2 Nonsynonymous SNV E588K 0.001 0 0 0 1 0 0 0 0 0 0 0 24 160609 chr14 97018921 97018921 G A PAPOLA Synonymous SNV T292T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.73 160610 chr20 3684070 3684082 ACCTGCTGGGCTC - rs754069934 SIGLEC1 S331Pfs*8 0.003 0 0 0 3 0 0 0 0 0 0 0 160611 chr1 15911233 15911233 C T AGMAT Nonsynonymous SNV G77E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 160612 chr1 15986977 15986977 A T rs142452950 RSC1A1 Nonsynonymous SNV N205I 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 23.5 160613 chr12 3040322 3040322 T G rs547315819 TULP3 Nonsynonymous SNV C204W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 160614 chr20 33875143 33875143 C T rs769630479 FAM83C Nonsynonymous SNV R480Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 160615 chr20 34214504 34214504 G A CPNE1 Synonymous SNV Y485Y 0.003 0 0 0 3 0 0 0 0 0 0 0 1.971 160616 chr2 226447094 226447094 G A NYAP2 Nonsynonymous SNV D321N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 160617 chr1 22837763 22837763 A G rs202116268 ZBTB40 Nonsynonymous SNV E530G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.34 160618 chr14 105196402 105196402 C G rs73360625 ADSS1 Nonsynonymous SNV P58R 0.004 0.005 0.003 5 5 2 0.013 1 0 0 0 0 Benign 3.849 160619 chr20 42972130 42972130 C T rs35397089 R3HDML Nonsynonymous SNV T165I 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 10.8 160620 chr12 7280854 7280854 C T RBP5 Synonymous SNV V78V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.437 160621 chr20 43567319 43567319 A G rs750525873 PABPC1L Nonsynonymous SNV D599G 0.003 0 0 0 3 0 0 0 0 0 0 0 24 160622 chr2 238258801 238258801 G A rs116608946 COL6A3 Nonsynonymous SNV R1683C 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 160623 chr2 238263547 238263547 C T rs398124129 COL6A3 Nonsynonymous SNV A1601T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 160624 chr20 44996098 44996098 C T rs149510828 ELMO2 Synonymous SNV K688K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.21 160625 chr1 23279604 23279604 C T rs183423016 LACTBL1 Nonsynonymous SNV D558N 0.002 0 0.01 5 2 0 0.013 3 0 0 0 0 33 160626 chr12 11420689 11420689 G T rs199658095 PRB3 Nonsynonymous SNV P165Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 160627 chr11 124910537 124910537 G T CCDC15 Nonsynonymous SNV G929V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 160628 chr1 85930644 85930644 C A DDAH1 Nonsynonymous SNV A29S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.7 160629 chr1 17944924 17944924 G A rs775678367 ARHGEF10L Nonsynonymous SNV V26M 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 17.84 160630 chr2 24338468 24338468 T G rs572726165 PFN4 Nonsynonymous SNV R125S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 160631 chr11 125778305 125778305 C T rs34007659 DDX25 Synonymous SNV N24N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.48 160632 chr11 125891295 125891295 T C rs7122277 CDON Nonsynonymous SNV K66R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.038 160633 chr20 590492 590492 C G rs371544807 TCF15 Synonymous SNV L130L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.26 160634 chr1 24416043 24416043 C T rs373213535 MYOM3 Synonymous SNV T533T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.7 160635 chr11 130060544 130060544 C T rs146795696 ST14 Nonsynonymous SNV T277M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 160636 chr20 60893690 60893690 C T rs144109924 LAMA5 Synonymous SNV Q2353Q 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Benign/Likely benign 12.78 160637 chr2 27681728 27681728 T - IFT172 E932Gfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 160638 chr20 60895900 60895900 G A rs143469163 LAMA5 Synonymous SNV A2181A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 11.46 160639 chr20 60902366 60902366 G A rs34000043 LAMA5 Nonsynonymous SNV R1679W 0.005 0.005 0.007 1 6 2 0.003 2 0 0 0 0 24.4 160640 chr21 43222994 43222994 C G rs748541544 PRDM15 Nonsynonymous SNV E978Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 160641 chr2 30143391 30143391 G T ALK Nonsynonymous SNV S45R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 160642 chr1 185984347 185984347 A G HMCN1 Nonsynonymous SNV S1563G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 18.48 160643 chr12 1989033 1989033 C T CACNA2D4 Synonymous SNV Q500Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.394 160644 chr12 2224422 2224422 G A rs373687005 CACNA1C Nonsynonymous SNV A28T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 160645 chr1 186282016 186282016 C A rs80196755 PRG4 Synonymous SNV A1235A 0.001 0.008 0 6 1 3 0.015 0 0 0 0 0 Benign 18.61 160646 chr2 33487873 33487873 C A rs77938757 LTBP1 Nonsynonymous SNV H509N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 16.55 160647 chr12 33049654 33049654 G A rs397516991 PKP2 Synonymous SNV P4P 0.003 0 0 2 3 0 0.005 0 1 0 0 0 Likely benign 15.74 160648 chr1 18808941 18808941 G - rs757365846 KLHDC7A G490Afs*86 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 160649 chr1 94047965 94047965 G C rs776565886 BCAR3 Nonsynonymous SNV P203A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 160650 chr15 49288649 49288649 A G rs185108730 SECISBP2L Synonymous SNV H801H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.914 160651 chr20 62594472 62594472 G A rs369659737 ZNF512B Synonymous SNV H648H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.281 160652 chr15 50336844 50336844 G C rs201949459 ATP8B4 Nonsynonymous SNV P83A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 160653 chr20 62275132 62275132 C G STMN3 Nonsynonymous SNV E79Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 160654 chr12 6438613 6438613 C T TNFRSF1A Synonymous SNV T303T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 19.05 160655 chr12 6675322 6675322 G A rs35556146 NOP2 Nonsynonymous SNV T136M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.9 160656 chr12 6884585 6884585 A T rs149434241 LAG3 Nonsynonymous SNV T310S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 1.714 160657 chr20 62737203 62737203 G A rs371922929 NPBWR2 Nonsynonymous SNV R328C 0.003 0 0 0 4 0 0 0 0 0 0 0 21 160658 chr12 7459131 7459131 A G rs200478386 ACSM4 Synonymous SNV T68T 0.003 0 0 0 3 0 0 0 0 0 0 0 4.94 160659 chr21 19666724 19666724 T C rs746126429 TMPRSS15 Synonymous SNV P783P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.015 160660 chr20 16348172 16348172 C T rs41308637 KIF16B Synonymous SNV S1266S 0.008 0.013 0.01 0 9 5 0 3 0 0 0 0 14.41 160661 chr1 201777788 201777788 G C rs772013213 MIR1231 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.039 160662 chr2 62066986 62066986 G C rs139266382 FAM161A Nonsynonymous SNV Q385E 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.367 160663 chr1 27877216 27877216 C A rs147276945 AHDC1 Nonsynonymous SNV V471L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 160664 chr20 18448157 18448157 - AGGTGA rs767567774 POLR3F V8_Q9insKV 0.004 0 0 0 5 0 0 0 0 0 0 0 160665 chr21 38128931 38128931 C T rs150665851 HLCS Nonsynonymous SNV V788M 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign/Likely benign 20.9 160666 chr1 32193185 32193185 G A rs41263977 ADGRB2 Nonsynonymous SNV R1498C 0.007 0.003 0 4 8 1 0.01 0 0 0 0 1 25.3 160667 chr1 32682871 32682871 A T TMEM234 Nonsynonymous SNV I106N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 160668 chr21 35237633 35237633 G A rs185389697 ITSN1 Nonsynonymous SNV V1352I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 160669 chr21 42609584 42609584 A T rs764064350 BACE2 Nonsynonymous SNV E182D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.73 160670 chr12 11338904 11338904 A T rs768428348 TAS2R42 Nonsynonymous SNV L214M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 160671 chr12 11421004 11421004 C G rs71455364 PRB3 Nonsynonymous SNV R60P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 160672 chr21 43221805 43221805 G A rs61740056 PRDM15 Synonymous SNV P1044P 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 9.19 160673 chr21 43221832 43221832 G A rs61738718 PRDM15 Synonymous SNV V1035V 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 0.656 160674 chr21 43240011 43240011 C T rs80213162 PRDM15 Synonymous SNV R766R 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 16.67 160675 chr21 43342111 43342111 G A rs61735797 C2CD2 Synonymous SNV Y154Y 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 0.103 160676 chr2 71887714 71887714 A G rs138357301 DYSF Nonsynonymous SNV I1593V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 6.412 160677 chr12 13103268 13103268 G A rs183273006 GPRC5D Synonymous SNV D17D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 160678 chr2 73145368 73145368 C T rs202090552 EMX1 Synonymous SNV T129T 0.001 0.008 0.01 0 1 3 0 3 0 0 0 0 19.84 160679 chr1 207086283 207086283 C T rs774906493 FCMR Nonsynonymous SNV V48I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.012 160680 chr1 207112582 207112582 G A rs746695580 PIGR Synonymous SNV N90N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 8.765 160681 chr2 74659668 74659668 G A rs368154180 RTKN Synonymous SNV N79N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.267 160682 chr2 75061744 75061744 G C HK2 Nonsynonymous SNV E13Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 160683 chr21 44479357 44479359 TCC - rs745438246 CBS, CBSL E295del 0.002 0 0 0 2 0 0 0 0 0 0 0 160684 chr2 79385841 79385841 G A REG3A Nonsynonymous SNV S44F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 160685 chr15 75133822 75133822 C T rs757425310 ULK3 Synonymous SNV R131R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.74 160686 chr1 208202279 208202279 G A rs113155197 PLXNA2 Synonymous SNV F1778F 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 Benign 12.86 160687 chr12 18473932 18473932 C G rs189270710 PIK3C2G Nonsynonymous SNV L392V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.66 160688 chr12 18656259 18656259 C T rs201569993 PIK3C2G Nonsynonymous SNV H980Y 0.004 0 0 0 5 0 0 0 0 0 0 0 25.3 160689 chr15 77363263 77363263 C T rs111428129 TSPAN3 Nonsynonymous SNV V12M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.7 160690 chr12 22061076 22061076 C A ABCC9 Nonsynonymous SNV V464L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 160691 chr2 86374908 86374908 G A rs752917023 IMMT Nonsynonymous SNV R483C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 160692 chr15 81592481 81592481 G A rs146341072 IL16 Synonymous SNV P237P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.083 160693 chr20 35421889 35421891 GAA - SOGA1 F1532del 0.002 0 0 0 2 0 0 0 0 0 0 0 160694 chr20 36640649 36640649 T C TTI1 Nonsynonymous SNV M524V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.12 160695 chr12 39725533 39725533 G C KIF21A Nonsynonymous SNV R1002G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 160696 chr1 223176990 223176990 G A rs767613451 DISP1 Nonsynonymous SNV E751K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.2 160697 chr1 223567294 223567294 C A rs201362280 CCDC185 Synonymous SNV G159G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.7 160698 chr1 223986245 223986245 T C TP53BP2 Synonymous SNV S540S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.155 160699 chr22 36886311 36886311 G A rs371062875 FOXRED2 Nonsynonymous SNV S510F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 160700 chr22 19776348 19776348 C T rs138483899 GNB1L Nonsynonymous SNV V290M 0.003 0 0 0 4 0 0 0 0 0 0 0 33 160701 chr1 55072911 55072911 C T rs149360605 ACOT11 Nonsynonymous SNV A492V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 160702 chr12 50745851 50745851 C A rs748619570 FAM186A Synonymous SNV G1588G 0.008 0.005 0.017 0 9 2 0 5 0 0 0 0 11.13 160703 chr12 50745863 50745863 C G rs12317337 FAM186A Synonymous SNV A1584A 0.009 0.005 0.024 1 11 2 0.003 7 0 0 0 0 6.574 160704 chr1 55130912 55130912 T C rs758424599 MROH7 Nonsynonymous SNV L435P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 160705 chr22 18171842 18171842 T G rs147280257 BCL2L13 Nonsynonymous SNV L131R 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 160706 chr22 38935367 38935367 T C rs376028127 DMC1 Nonsynonymous SNV D182G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 160707 chr20 47877088 47877088 G T ZNFX1 Nonsynonymous SNV H776Q 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 160708 chr1 59125702 59125702 G A rs200163802 MYSM1 Synonymous SNV T818T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 160709 chr20 48558197 48558197 C T rs141103111 RNF114 Synonymous SNV L80L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.29 160710 chr12 52284521 52284521 C T rs146634550 ANKRD33 Nonsynonymous SNV P70L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 160711 chr22 41626201 41626201 A - L3MBTL2 S689Vfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 160712 chr3 126153211 126153211 G A CFAP100 Nonsynonymous SNV E539K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 160713 chr12 94691130 94691130 A G rs114850203 PLXNC1 Synonymous SNV G1335G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 3.955 160714 chr12 53004485 53004485 G A rs759751275 KRT73 Synonymous SNV R415R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 160715 chr1 232941652 232941652 G A rs61746497 MAP10 Nonsynonymous SNV G295R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.32 160716 chr22 31285081 31285081 A T rs544151296 LOC107985544 0.001 0 0 0 1 0 0 0 0 0 0 0 1.735 160717 chr12 54767829 54767829 C A ZNF385A Nonsynonymous SNV V97F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 160718 chr22 26886082 26886082 A C rs768267834 SRRD Nonsynonymous SNV N228H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 160719 chr22 26902363 26902363 G A rs149810695 TFIP11 Synonymous SNV F111F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.8 160720 chr12 111856506 111856506 G T rs183913232 SH2B3 Nonsynonymous SNV S186I 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 22.9 160721 chr3 137843487 137843487 G T rs146992672 A4GNT Nonsynonymous SNV H214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 160722 chr3 137893575 137893575 C T rs554320323 DBR1 Synonymous SNV A21A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 160723 chr12 112600883 112600883 C T rs183882784 HECTD4 Synonymous SNV P4371P 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 Benign 15.52 160724 chr1 24383950 24383950 G A rs116002224 MYOM3 Synonymous SNV G1406G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.647 160725 chr20 62196661 62196661 C T rs182835948 HELZ2 Nonsynonymous SNV V603M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.8 160726 chr22 31522973 31522973 C G INPP5J Nonsynonymous SNV L86V 0.004 0 0 0 5 0 0 0 0 0 0 0 24 160727 chr22 51065283 51065283 G A rs754484249 ARSA Synonymous SNV F221F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.56 160728 chr1 89477517 89477517 C G rs755372090 GBP3 Synonymous SNV L220L 0.004 0 0.003 3 5 0 0.008 1 1 0 0 1 2.799 160729 chr3 151046297 151046297 T C rs766160966 P2RY13 Nonsynonymous SNV N183D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.877 160730 chr1 90401197 90401197 G T LRRC8D Nonsynonymous SNV G857V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 160731 chr1 173486677 173486677 T - SLC9C2 Q969Rfs*27 0 0 0 1 0 0 0.003 0 0 0 0 0 160732 chr22 38026011 38026011 G A rs752444230 GGA1 Nonsynonymous SNV D302N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.89 160733 chr22 38035803 38035803 G A rs774013986 SH3BP1 Synonymous SNV K3K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.94 160734 chr1 176845725 176845725 G A rs143931548 ASTN1 Synonymous SNV S1137S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.152 160735 chr3 167293741 167293741 C T rs756311911 WDR49 Nonsynonymous SNV V151I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 160736 chr22 39175497 39175497 T A rs769764294 DNAL4 Nonsynonymous SNV Y92F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.31 160737 chr1 94643546 94643546 G A rs139806754 ARHGAP29 Synonymous SNV F822F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.99 160738 chr22 39476980 39476980 C G rs138285438 APOBEC3G Nonsynonymous SNV H5D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 160739 chr21 31768894 31768894 C A rs147918934 KRTAP13-1 Nonsynonymous SNV P164T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.3 160740 chr3 170732426 170732426 G A rs7637863 SLC2A2 Nonsynonymous SNV P68L 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign/Likely benign 9.931 160741 chr21 34876497 34876497 C A rs371998114 GART Nonsynonymous SNV Q989H 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 160742 chr21 34922194 34922194 A G rs556021439 SON Synonymous SNV T219T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.65 160743 chr2 11810064 11810064 G A rs11556847 NTSR2 Synonymous SNV R64R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.206 160744 chr12 129558610 129558610 G C TMEM132D Nonsynonymous SNV S1037C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 160745 chr16 8994862 8994862 G A USP7 Synonymous SNV S715S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.81 160746 chr2 120078731 120078731 A G rs7566912 C2orf76 Synonymous SNV Y61Y 0.006 0.008 0.007 3 7 3 0.008 2 0 0 1 0 2.478 160747 chr2 120194673 120194673 G A rs114197773 TMEM37 Nonsynonymous SNV G77D 0.008 0.01 0.003 7 9 4 0.018 1 0 0 0 0 Benign 8.396 160748 chr12 132400624 132400624 C T rs147660552 ULK1 Nonsynonymous SNV R600W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.9 160749 chr12 132401539 132401539 C T rs145279005 ULK1 Nonsynonymous SNV A705V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 30 160750 chr2 121107075 121107075 C T rs61737548 INHBB Synonymous SNV G283G 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 14.06 160751 chr21 41710083 41710083 G A rs139863593 DSCAM Synonymous SNV N576N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 9.545 160752 chr20 20029049 20029049 G A rs147954238 CRNKL1 Synonymous SNV V131V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.77 160753 chr13 20797131 20797131 C T rs35002004 GJB6 Synonymous SNV L163L 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.974 160754 chr2 135744019 135744019 G C rs142728110 MAP3K19 Nonsynonymous SNV S695C 0.003 0.005 0.003 4 3 2 0.01 1 0 0 0 0 22.8 160755 chr22 46068024 46068024 C G ATXN10 Synonymous SNV R27R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 160756 chr12 102811624 102811624 G T rs6213 IGF1 Nonsynonymous SNV A187D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 22.8 160757 chr3 194147978 194147978 C G ATP13A3 Nonsynonymous SNV S984T 0 0 0.003 0 0 0 0 1 0 0 0 0 31 160758 chr13 25285031 25285031 G A rs150364553 ATP12A Nonsynonymous SNV R1006K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.405 160759 chr2 145156498 145156498 C T rs772121083 ZEB2 Synonymous SNV T728T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.813 160760 chr3 197807195 197807195 G A rs9812611 ANKRD18DP 0 0 0.003 0 0 0 0 1 0 0 0 0 8.037 160761 chr3 21447997 21447997 T G rs11129005 VENTXP7 0 0 0.065 0 0 0 0 19 0 0 2 0 3.252 160762 chr1 3440768 3440768 C T rs373773416 MEGF6 Nonsynonymous SNV R175Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 160763 chr12 111317855 111317855 T C rs12371434 CCDC63 Nonsynonymous SNV L133S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 160764 chr12 112305390 112305390 G A rs34132040 MAPKAPK5 Nonsynonymous SNV M67I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 160765 chr20 3684738 3684738 T A SIGLEC1 Nonsynonymous SNV Y236F 0.003 0 0 0 3 0 0 0 0 0 0 0 19.69 160766 chr12 113822717 113822717 G A rs145677929 PLBD2 Nonsynonymous SNV G394R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 160767 chr20 39990418 39990418 C T rs145897278 EMILIN3 Synonymous SNV S597S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.92 160768 chr1 39792911 39792911 A G rs188618759 MACF1 Synonymous SNV K1505K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.243 160769 chr13 50098263 50098263 C T PHF11, SETDB2-PHF11 Nonsynonymous SNV A227V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 160770 chr2 171572809 171572809 C G SP5 Nonsynonymous SNV S31W 0.002 0 0 0 2 0 0 0 0 0 0 0 28 160771 chr3 4490973 4490973 C T rs773862055 SUMF1 Nonsynonymous SNV V166M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 160772 chr3 45942961 45942961 C T rs145949330 CCR9 Synonymous SNV F215F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.861 160773 chr22 24086580 24086580 T C rs746936520 ZNF70 Nonsynonymous SNV R250G 0.005 0 0 0 6 0 0 0 0 0 0 0 23.3 160774 chr1 45272143 45272143 C T rs146912347 TCTEX1D4 Synonymous SNV S66S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.7 160775 chr1 45272185 45272185 G A rs187170119 TCTEX1D4 Synonymous SNV G52G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.277 160776 chr12 132325334 132325334 C T rs138755759 MMP17 Synonymous SNV P213P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.941 160777 chr22 24562859 24562859 C T rs756955976 CABIN1 Nonsynonymous SNV R1704W 0.005 0 0 0 6 0 0 0 0 0 0 0 24.7 160778 chr20 52775569 52775569 C G CYP24A1 Nonsynonymous SNV E362Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 160779 chr13 101184628 101184628 C A GGACT Nonsynonymous SNV R73L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.3 160780 chr22 25152556 25152556 G T rs765125324 PIWIL3 Nonsynonymous SNV L158I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.25 160781 chr20 55982809 55982809 C T rs749736153 RBM38 Synonymous SNV A209A 0.004 0 0 0 5 0 0 0 0 0 0 0 11.35 160782 chr16 67861423 67861423 A G rs1043725035 TSNAXIP1 Synonymous SNV Q267Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.054 160783 chr16 68002391 68002391 C A rs147343289 SLC12A4 Nonsynonymous SNV G56V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 27 160784 chr22 26565686 26565686 C A rs199592259 SEZ6L Nonsynonymous SNV F17L 0.006 0 0 2 7 0 0.005 0 1 0 0 1 16.34 160785 chr12 133697293 133697293 A G rs778038598 ZNF891 Synonymous SNV Y404Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.82 160786 chr3 49452268 49452268 C G rs146887788 TCTA Nonsynonymous SNV N95K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 160787 chr3 49462275 49462275 G C rs367980201 NICN1 Synonymous SNV S211S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.608 160788 chr3 49548152 49548152 C T rs375938350 DAG1 Nonsynonymous SNV P62L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.3 160789 chr22 26936819 26936819 A T TPST2 Nonsynonymous SNV W260R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 160790 chr3 49753144 49753144 A G rs753419948 RNF123 Synonymous SNV Q1049Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.683 160791 chr22 29196469 29196469 G A rs570172086 XBP1 Nonsynonymous SNV P15L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 160792 chr20 57782031 57782031 G A rs146524649 ZNF831 Nonsynonymous SNV R1316Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.75 160793 chr3 50294494 50294494 C T rs139197363 GNAI2 Synonymous SNV P202P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 20 160794 chr3 50326091 50326091 T C rs199606756 IFRD2 Nonsynonymous SNV M423V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.322 160795 chr3 51696890 51696890 C T rs147484572 RAD54L2 Synonymous SNV H1286H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.25 160796 chr16 72144909 72144909 C T DHX38 Synonymous SNV L1178L 0.003 0 0 1 3 0 0.003 0 1 0 0 0 12.13 160797 chr3 51978467 51978467 T C rs754168916 PARP3 Nonsynonymous SNV F132S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.7 160798 chr20 60904282 60904282 C T rs202031005 LAMA5 Nonsynonymous SNV V1383I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.88 160799 chr20 60908435 60908435 C T rs141573440 LAMA5 Nonsynonymous SNV D1042N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.61 160800 chr22 31328630 31328630 G A rs189421529 MORC2 Synonymous SNV V883V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.888 160801 chr3 56950344 56950344 C T ARHGEF3 Nonsynonymous SNV R15H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.57 160802 chr3 58519732 58519735 TCTG - rs34391522 ACOX2 T154Sfs*25 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 160803 chr3 63809163 63809163 G A rs138846385 C3orf49 Synonymous SNV T121T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.921 160804 chr3 69928426 69928426 G A rs542555095 MITF Synonymous SNV A30A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.18 160805 chr3 77651596 77651596 G C rs748626186 ROBO2 Synonymous SNV L1030L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.753 160806 chr2 175331298 175331298 G A rs759745513 GPR155 Nonsynonymous SNV L414F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 160807 chr16 85689983 85689994 GAGCGCGAGCGC - rs778687787 GSE1 R245_E248del 0 0 0 1 0 0 0.003 0 0 0 0 0 160808 chr2 179401027 179401027 C G rs368321767 TTN Nonsynonymous SNV E24418Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.82 160809 chr2 179401042 179401042 A C rs372304158 TTN Nonsynonymous SNV W24413G 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 160810 chr22 40257834 40257834 T G rs141904479 ENTHD1 Synonymous SNV T176T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.199 160811 chr2 179567225 179567225 C T rs373355159 TTN Nonsynonymous SNV R8886H 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 160812 chr16 88801085 88801085 C T rs770023621 PIEZO1 Nonsynonymous SNV R657H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 160813 chr21 32638955 32638955 C T rs142082958 TIAM1 Nonsynonymous SNV V112I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.52 160814 chr1 231402129 231402129 G A rs375611364 GNPAT Nonsynonymous SNV R283Q 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Uncertain significance 25 160815 chr13 78272563 78272563 C T rs763254872 SLAIN1 Nonsynonymous SNV P172L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 160816 chr21 33739048 33739048 G A rs187485893 URB1 Nonsynonymous SNV P405L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 160817 chr1 231406677 231406677 C T rs370837823 GNPAT Synonymous SNV L424L 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.27 160818 chr21 33829993 33829993 G A rs141964892 EVA1C Nonsynonymous SNV S149N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.38 160819 chr4 110409858 110409858 A G rs561540104 MIR576 0 0 0.003 0 0 0 0 1 0 0 0 0 2.125 160820 chr22 43926725 43926725 T C rs35982593 EFCAB6 Synonymous SNV T1299T 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.02 160821 chr13 96511850 96511850 A G rs9525072 UGGT2 Nonsynonymous SNV F1274L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 26.6 160822 chr13 101182405 101182405 C T rs150352833 PCCA Synonymous SNV L651L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.73 160823 chr22 45221366 45221366 C T rs144191237 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV Y163Y 0.002 0 0 0 2 0 0 0 0 0 0 0 8.527 160824 chr14 34268992 34268992 C T rs142552405 NPAS3 Synonymous SNV S463S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 18.04 160825 chr4 122301476 122301476 G A rs757759755 QRFPR Synonymous SNV D109D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.175 160826 chr13 103718444 103718444 G A rs71640246 SLC10A2 Synonymous SNV N52N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.03 160827 chr4 140262082 140262082 C A rs57269359 NAA15 Synonymous SNV G87G 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 17.2 160828 chr13 114061414 114061414 C T rs990484145 LOC101928841 Nonsynonymous SNV G364E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.968 160829 chr4 142150779 142150779 A G rs138246731 ZNF330 Nonsynonymous SNV S56G 0.001 0 0.014 0 1 0 0 4 0 0 0 0 28 160830 chr4 147755043 147755043 C A TTC29 Nonsynonymous SNV D298Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 160831 chr20 13251210 13251210 A G rs767966789 ISM1 Synonymous SNV E66E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.65 160832 chr21 45978046 45978055 GGCAGGTGGA - KRTAP10-3 T183Pfs*60 0.001 0 0 0 1 0 0 0 0 0 0 0 160833 chr2 190611307 190611307 T C rs140587096 ANKAR Nonsynonymous SNV L1420P 0.003 0 0 0 4 0 0 0 0 0 0 0 25.8 160834 chr2 190718999 190718999 C T rs147084726 PMS1 Nonsynonymous SNV T158M 0.004 0 0 0 5 0 0 0 0 0 0 0 not provided 15.14 160835 chr1 247151277 247151277 T G rs191150113 ZNF695 Synonymous SNV G180G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.436 160836 chr2 228881583 228881583 C A rs750253583 SPHKAP Nonsynonymous SNV E1329D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.487 160837 chr14 20857823 20857823 C T rs372989857 TEP1 Nonsynonymous SNV R696H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.47 160838 chr2 100343553 100343553 G A rs147561223 AFF3 Synonymous SNV G384G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.449 160839 chr4 1643080 1643080 C G FAM53A Nonsynonymous SNV E379D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 160840 chr14 64375920 64375920 C T rs372179532 SYNE2 Synonymous SNV I18I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.77 160841 chr14 21511604 21511604 C A RNASE7 Nonsynonymous SNV H151Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27 160842 chr14 21558785 21558785 T G ZNF219 Synonymous SNV G693G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.457 160843 chr21 47974561 47974561 C T DIP2A Synonymous SNV H1072H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.3 160844 chr2 205969162 205969162 A G rs193246081 PARD3B Nonsynonymous SNV N173D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 4.887 160845 chr14 64636978 64636978 C T rs147365925 SYNE2 Nonsynonymous SNV T5678M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 22.8 160846 chr2 105713689 105713689 G A rs145751106 MRPS9 Nonsynonymous SNV G336R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 34 160847 chr14 66136144 66136144 C T FUT8 Nonsynonymous SNV P98S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.7 160848 chr4 175899021 175899021 T C rs10009483 ADAM29 Nonsynonymous SNV M782T 0.005 0.008 0.01 0 6 3 0 3 0 0 0 0 0.001 160849 chr2 21225006 21225006 A T rs72654426 APOB Nonsynonymous SNV S4430T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 160850 chr14 23885041 23885041 C A rs397516233 MYH7 Nonsynonymous SNV D1652Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 31 160851 chr2 116572518 116572518 G A rs139513150 DPP10 Nonsynonymous SNV R363Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 160852 chr2 116572542 116572542 A G rs142359009 DPP10 Nonsynonymous SNV K371R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.93 160853 chr4 184931502 184931502 C A rs755584822 STOX2 Nonsynonymous SNV S504Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 160854 chr14 24727830 24727830 G A TGM1 Synonymous SNV S403S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 13.84 160855 chr14 74422609 74422609 T G COQ6 Synonymous SNV T153T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 160856 chr20 25656011 25656011 T C ZNF337 Nonsynonymous SNV N638S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 13.57 160857 chr22 24582080 24582080 C T rs143805165 SUSD2 Nonsynonymous SNV T479I 0.009 0.01 0.003 4 11 4 0.01 1 0 0 0 0 19.11 160858 chr22 25331492 25331492 G A rs146817251 TMEM211 Synonymous SNV C66C 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 5.134 160859 chr22 26294371 26294371 G A rs375717740 MYO18B Nonsynonymous SNV C1590Y 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 22 160860 chr14 81209551 81209551 G A rs144928653 CEP128 Stop gain R892X 0.003 0 0 2 4 0 0.005 0 0 0 0 0 42 160861 chr2 220420749 220420749 G A rs746616167 OBSL1 Synonymous SNV S1534S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.28 160862 chr14 88442727 88442727 G C GALC Nonsynonymous SNV L220V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 160863 chr14 45644816 45644816 A C rs142864437 FANCM Nonsynonymous SNV K927N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 160864 chr14 89078089 89078089 C T rs202089412 ZC3H14 Synonymous SNV S305S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.246 160865 chr2 225265772 225265772 G T rs13010549 FAM124B Synonymous SNV G238G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.088 160866 chr1 39934334 39934334 C T rs200044531 MACF1 Synonymous SNV T5208T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.68 160867 chr14 91763664 91763664 C T rs761029224 CCDC88C Synonymous SNV L1317L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.94 160868 chr2 153476105 153476105 G A rs780967678 FMNL2 Synonymous SNV P570P 0.003 0 0 0 4 0 0 0 0 0 0 0 2.345 160869 chr2 158637039 158637039 G C rs34056189 ACVR1 Nonsynonymous SNV H47Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 14.89 160870 chr2 32738185 32738185 A G BIRC6 Nonsynonymous SNV Y3511C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 160871 chr20 42826157 42826157 G C rs139064502 OSER1 Synonymous SNV L138L 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 4.575 160872 chr2 232790918 232790918 C T NPPC Synonymous SNV T14T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 160873 chr2 160289311 160289311 A C rs200635533 BAZ2B Nonsynonymous SNV D556E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.752 160874 chr4 48525087 48525087 C T rs752324903 FRYL Nonsynonymous SNV R2451H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 160875 chr20 44515339 44515339 C T rs141224523 SPATA25 Synonymous SNV V167V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.92 160876 chr20 44581348 44581348 G A rs3746504 ZNF335 Synonymous SNV S901S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 0.936 160877 chr14 64152851 64152851 T C rs74058052 SGPP1 Nonsynonymous SNV Y433C 0.002 0 0 0 2 0 0 0 0 0 0 0 2.243 160878 chr2 165550997 165550997 T C COBLL1 Nonsynonymous SNV K969E 0.004 0 0 0 5 0 0 0 0 0 0 0 26.5 160879 chr22 42415371 42415371 C T WBP2NL Nonsynonymous SNV S40L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 160880 chr4 6325199 6325199 G A rs763204097 PPP2R2C Nonsynonymous SNV R378C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 160881 chr2 44037599 44037599 G A rs191674482 DYNC2LI1 Nonsynonymous SNV G358E 0.008 0.01 0 7 9 4 0.018 0 0 0 0 0 14.94 160882 chr2 238242176 238242176 G C rs182976977 COL6A3 Nonsynonymous SNV P2475R 0.005 0.003 0.01 3 6 1 0.008 3 0 0 0 0 Benign/Likely benign 12.81 160883 chr22 43603575 43603575 G A rs374680767 SCUBE1 Synonymous SNV L927L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.24 160884 chr4 6623011 6623011 G A rs140158985 MAN2B2 Synonymous SNV X959X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.28 160885 chr17 26944048 26944048 C T rs371436851 SPAG5-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.042 160886 chr2 238303687 238303687 G A rs765786832 COL6A3 Synonymous SNV N84N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.033 160887 chr2 238991979 238991979 C T rs143511249 SCLY Nonsynonymous SNV R290W 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 160888 chr2 54856100 54856100 G A rs369315226 SPTBN1 Nonsynonymous SNV R597Q 0.003 0 0 0 3 0 0 0 0 0 0 0 21 160889 chr20 54956513 54956513 C T rs770899345 AURKA Synonymous SNV K227K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.56 160890 chr17 28811308 28811308 C T GOSR1 Nonsynonymous SNV L12F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 160891 chr14 73730963 73730963 A G rs760586250 PAPLN Nonsynonymous SNV Q969R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 160892 chr4 73944597 73944597 T C rs138745659 ANKRD17 Synonymous SNV A2139A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 4.427 160893 chr2 242009386 242009386 C T rs750170874 SNED1 Nonsynonymous SNV A1120V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.1 160894 chr4 7719761 7719761 G A rs772930061 SORCS2 Nonsynonymous SNV V759M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.154 160895 chr1 57378123 57378123 G A C8A Synonymous SNV L476L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.302 160896 chr4 774617 774617 G C rs6811804 LOC100129917 0 0 0.024 0 0 0 0 7 0 0 3 0 3.322 160897 chr4 775418 775418 C A rs34649712 LOC100129917 0 0 0.007 0 0 0 0 2 0 0 1 0 9.508 160898 chr14 77706926 77706926 T C rs201624931 TMEM63C Nonsynonymous SNV F347L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 160899 chr15 40259982 40259982 C G EIF2AK4 Synonymous SNV G485G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.7 160900 chr2 73496577 73496594 GCAGCGGCGGCGGCGGCC - rs578258802 FBXO41 A56_A61del 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 160901 chr2 26741883 26741883 T C rs727505189 OTOF Nonsynonymous SNV I108V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 14.67 160902 chr4 84370084 84370084 G A rs764392725 HELQ Nonsynonymous SNV S348F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 160903 chr2 75937888 75937888 G C rs7559767 GCFC2 Nonsynonymous SNV P32A 0.008 0 0.003 1 9 0 0.003 1 0 0 0 0 0.034 160904 chr14 92087964 92087964 G T rs45583931 CATSPERB Synonymous SNV R750R 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 7.053 160905 chr4 8602934 8602934 C T rs773719320 CPZ Nonsynonymous SNV S58L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 160906 chr4 884380 884380 C T rs749984140 GAK Nonsynonymous SNV A262T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.002 160907 chr4 88537105 88537107 CGA - rs748972998 DSPP D1098del 0 0 0.003 0 0 0 0 1 0 0 0 0 160908 chr4 88537109 88537114 AGCAGC - rs764563712 DSPP S1099_S1100del 0 0 0.003 0 0 0 0 1 0 0 0 0 160909 chr14 94394613 94394613 G A rs138969216 FAM181A Synonymous SNV S56S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 9.102 160910 chr4 982677 982677 C T rs376555831 SLC26A1 Nonsynonymous SNV V684M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 160911 chr5 102493897 102493897 C T rs782404128 PPIP5K2 Stop gain R499X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 160912 chr1 85498621 85498621 G A rs748014862 MCOLN3 Nonsynonymous SNV P134L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 160913 chr5 109181572 109181572 C A MAN2A1 Nonsynonymous SNV P903T 0 0 0.007 0 0 0 0 2 0 0 0 0 27.8 160914 chr1 86047807 86047807 C T rs764684191 CCN1 Synonymous SNV C158C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.9 160915 chr14 101005271 101005273 CCT - rs773659562 BEGAIN E272del 0.001 0 0 0 1 0 0 0 0 0 0 0 160916 chr2 121106685 121106685 C T rs61737549 INHBB Synonymous SNV A153A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 160917 chr5 118484890 118484890 A T rs750315820 DMXL1 Nonsynonymous SNV D1123V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 160918 chr5 1232424 1232424 A T rs759265635 SLC6A18 Nonsynonymous SNV K84M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 160919 chr14 105070991 105070991 C T rs756282478 TMEM179 Nonsynonymous SNV E30K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 160920 chr2 205983695 205983695 G A rs201558858 PARD3B Nonsynonymous SNV R244Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 21.3 160921 chr2 44569678 44569678 G A rs183365746 PREPL Synonymous SNV D210D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.41 160922 chr2 133542210 133542210 G T NCKAP5 Nonsynonymous SNV A725D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 160923 chr2 207009647 207009647 T C NDUFS1 Nonsynonymous SNV I170V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.824 160924 chr2 133542211 133542211 C A NCKAP5 Nonsynonymous SNV A725S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 160925 chr5 128433412 128433412 C T MIR4633 0 0 0.003 0 0 0 0 1 0 0 0 0 4.832 160926 chr21 34900636 34900636 G A rs148803928 GART Synonymous SNV I301I 0 0.005 0 0 0 2 0 0 0 0 0 0 14.44 160927 chr21 34950699 34950699 C T rs147521584 DONSON Nonsynonymous SNV E539K 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 20.1 160928 chr21 34954273 34954273 T C rs373262818 DONSON Nonsynonymous SNV I379V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.027 160929 chr2 54115099 54115099 A T rs147318851 PSME4 Synonymous SNV L1472L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.005 160930 chr2 208994265 208994265 T C rs777748323 CRYGC Nonsynonymous SNV Y51C 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 24 160931 chr5 134190966 134190966 T C rs148188988 C5orf24 Synonymous SNV L126L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.1 160932 chr15 28520147 28520147 G A rs370500858 HERC2 Nonsynonymous SNV R183W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 160933 chr2 61238991 61238991 G A rs751736619 PUS10 Nonsynonymous SNV A12V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.941 160934 chr2 63282800 63282800 C T OTX1 Synonymous SNV S138S 0.002 0 0 0 2 0 0 0 0 0 0 0 18 160935 chr5 137219222 137219222 A G rs765025826 MYOT Synonymous SNV A138A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 12.46 160936 chr15 68624276 68624276 G T ITGA11 Nonsynonymous SNV A564D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.8 160937 chr3 123014979 123014979 G T rs113525130 ADCY5 Synonymous SNV A655A 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Benign 9.187 160938 chr15 72502115 72502115 T C rs61753428 PKM Nonsynonymous SNV N81S 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 10.85 160939 chr2 219029339 219029339 C T rs146445859 CXCR1 Nonsynonymous SNV R199Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 26.3 160940 chr3 125179624 125179624 T C rs375551326 SNX4 Nonsynonymous SNV E312G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.1 160941 chr5 140536184 140536184 G T rs246698 PCDHB17P 0 0 0.031 0 0 0 0 9 0 0 0 0 33 160942 chr5 140614306 140614306 - G rs112268051 PCDHB18P 0 0 0.027 0 0 0 0 8 0 0 0 0 160943 chr5 140619857 140619857 G C rs9687052 PCDHB19P 0 0 0.027 0 0 0 0 8 0 0 0 0 12.31 160944 chr5 140869577 140869577 T C rs749356078 PCDHGC5 Nonsynonymous SNV I257T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 160945 chr2 86115992 86115992 G A rs559756386 ST3GAL5 Nonsynonymous SNV P13S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.34 160946 chr2 86280019 86280019 G A POLR1A Synonymous SNV G771G 0.003 0 0 0 3 0 0 0 0 0 0 0 13.82 160947 chr2 96964401 96964401 G A SNRNP200 Synonymous SNV L308L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.9 160948 chr2 8916919 8916919 G A rs202054411 KIDINS220 Nonsynonymous SNV P937L 0.007 0 0 2 8 0 0.005 0 0 0 0 0 33 160949 chr2 175213714 175213714 T A rs771005478 CIR1 Nonsynonymous SNV K288N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.097 160950 chr3 12977544 12977544 G A rs778783528 IQSEC1 Synonymous SNV G324G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.346 160951 chr21 47660896 47660896 T C rs371046450 MCM3AP Nonsynonymous SNV N1821S 0 0.013 0 0 0 5 0 0 0 0 0 0 1.849 160952 chr2 179476646 179476646 C T rs200835354 TTN Nonsynonymous SNV R7732H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 160953 chr3 100493486 100493486 T C rs371289294 ABI3BP Synonymous SNV T787T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.584 160954 chr22 18021637 18021637 G A rs144027854 CECR2 Nonsynonymous SNV R502H 0.001 0.01 0 6 1 4 0.015 0 0 0 0 0 1.029 160955 chr3 108081193 108081193 G A rs267599526 HHLA2 Synonymous SNV P336P 0.003 0 0 0 3 0 0 0 0 0 0 0 2.137 160956 chr2 186660612 186660612 G C FSIP2 Nonsynonymous SNV G2917R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 160957 chr5 157002620 157002620 C T ADAM19 Nonsynonymous SNV G29R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.267 160958 chr15 56686926 56686926 G A rs756980645 TEX9 Nonsynonymous SNV R166Q 0.003 0 0 0 3 0 0 0 0 0 0 0 27 160959 chr3 119887143 119887143 T C GPR156 Nonsynonymous SNV D390G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.6 160960 chr17 73916381 73916381 C A rs751867382 FBF1 Nonsynonymous SNV A602S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.41 160961 chr17 74387423 74387423 G A rs151029911 UBE2O Synonymous SNV N1160N 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 0.241 160962 chr2 1946773 1946773 - TCC MYT1L E167_N168insE 0.001 0 0 0 1 0 0 0 0 0 0 0 160963 chr3 113721346 113721346 C T rs200341116 CCDC191 Nonsynonymous SNV R651Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 160964 chr3 118621422 118621422 A G IGSF11 Nonsynonymous SNV I414T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 160965 chr5 171765693 171765693 G T rs372034716 SH3PXD2B Nonsynonymous SNV P806T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.5 160966 chr3 153998587 153998587 C T DHX36 Nonsynonymous SNV R800K 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 12.84 160967 chr5 176738454 176738454 C T rs761252798 MXD3 Synonymous SNV P34P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 160968 chr15 101454871 101454871 C - LOC101927751 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 160969 chr3 165547672 165547672 T C rs146936556 BCHE Nonsynonymous SNV I384V 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 0.003 160970 chr3 167508285 167508285 C A rs965462108 SERPINI1 Nonsynonymous SNV Q126K 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 10.91 160971 chr15 66621632 66621632 G A rs140178342 DIS3L Synonymous SNV L684L 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 12.09 160972 chr3 170198095 170198095 G A rs200600060 SLC7A14 Nonsynonymous SNV A659V 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 22.5 160973 chr5 179018688 179018688 T A rs750672564 RUFY1 Nonsynonymous SNV D289E 0 0 0.003 0 0 0 0 1 0 0 0 0 24 160974 chr2 26432666 26432666 A C HADHA Synonymous SNV A356A 0.004 0 0 0 5 0 0 0 0 0 0 0 8.619 160975 chr3 122487701 122487701 G A rs761929977 HSPBAP1 Synonymous SNV Y93Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 5.416 160976 chr16 705463 705463 C T WDR90 Synonymous SNV A571A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.435 160977 chr20 52193214 52193214 A G rs143450020 ZNF217 Nonsynonymous SNV C697R 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 20.5 160978 chr3 12858271 12858271 T C rs373203730 CAND2 Synonymous SNV L521L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 160979 chr17 78867557 78867557 G A rs150308688 RPTOR Nonsynonymous SNV A607T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.52 160980 chr20 55049752 55049752 C T rs138507928 RTF2 Synonymous SNV A61A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.09 160981 chr3 182937700 182937700 A G rs9826325 MCF2L2 Nonsynonymous SNV F772L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.21 160982 chr22 37325704 37325704 C T rs140679574 CSF2RB Synonymous SNV N191N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 3.309 160983 chr2 210658485 210658485 C G rs142126808 UNC80 Nonsynonymous SNV I280M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 160984 chr22 37326535 37326535 G A CSF2RB Synonymous SNV K279K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.666 160985 chr17 80038399 80038399 G A rs765729117 FASN Synonymous SNV P2298P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 14.6 160986 chr3 184062538 184062538 G A rs959729038 FAM131A Nonsynonymous SNV R209H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 160987 chr3 128722886 128722886 G A EFCC1 Nonsynonymous SNV V316M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.1 160988 chr5 413499 413499 C T rs763403491 AHRR Nonsynonymous SNV T135M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 160989 chr5 447689 447689 C G rs189048784 EXOC3 Synonymous SNV L62L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.36 160990 chr3 130107666 130107666 A G rs561794912 COL6A5 Nonsynonymous SNV N702S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.002 160991 chr2 219677672 219677672 C T rs202136743 CYP27A1 Synonymous SNV L290L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 160992 chr15 85403064 85403064 C T rs745724880 ALPK3 Synonymous SNV C1341C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.4 160993 chr2 39507468 39507468 A G rs202227023 MAP4K3 Synonymous SNV N532N 0.007 0.008 0.007 0 8 3 0 2 0 0 0 0 8.267 160994 chr5 56207186 56207186 G A SETD9 Nonsynonymous SNV V97M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.082 160995 chr2 43903096 43903096 G A rs751156756 C1GALT1C1L Synonymous SNV T122T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.442 160996 chr2 47748803 47748803 C T KCNK12 Nonsynonymous SNV C179Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24 160997 chr3 141526628 141526628 G C rs141435292 GRK7 Nonsynonymous SNV V398L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.1 160998 chr18 28720130 28720130 A G rs375936046 DSC1 Synonymous SNV S465S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.09 160999 chr18 29435732 29435732 C T TRAPPC8 Nonsynonymous SNV S1076N 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 161000 chr5 74907638 74907638 C A rs79228722 ANKDD1B Nonsynonymous SNV A60D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.72 161001 chr5 74931677 74931680 CCAG - rs200681566 ANKDD1B Q257Gfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 161002 chr5 74931682 74931682 G - rs200161079 ANKDD1B W258Cfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 161003 chr5 75427934 75427934 G A rs769475653 SV2C Nonsynonymous SNV R120Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 161004 chr3 32932232 32932232 C G TRIM71 Nonsynonymous SNV H512Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 161005 chr18 32712071 32712071 G A MAPRE2 Nonsynonymous SNV E223K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 161006 chr3 15628087 15628087 G A rs752349031 HACL1 Nonsynonymous SNV T108I 0.003 0 0 0 3 0 0 0 0 0 0 0 18.9 161007 chr21 30257646 30257646 T C rs200406057 N6AMT1 Nonsynonymous SNV T8A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 161008 chr3 158407990 158407990 A G rs147847472 GFM1 Nonsynonymous SNV M497V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 26.7 161009 chr16 17352965 17352965 T C rs770182325 XYLT1 Nonsynonymous SNV I265V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.59 161010 chr21 32119310 32119310 G A rs147814118 KRTAP21-2 Stop gain R71X 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 33 161011 chr3 38080935 38080935 G C DLEC1 Nonsynonymous SNV Q73H 0.003 0 0 0 3 0 0 0 0 0 0 0 6.608 161012 chr5 79033978 79033978 C T rs200184482 CMYA5 Synonymous SNV T3130T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.736 161013 chr5 79616698 79616698 G A rs200249535 SPZ1 Nonsynonymous SNV E222K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.613 161014 chr21 34927392 34927412 CCCCAAGCCGCCGCAGCCGCA - SON S1992_R1998del 0 0 0 1 0 0 0.003 0 0 0 0 0 161015 chr2 70514483 70514483 C T rs113095278 SNRPG Synonymous SNV A67A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.589 161016 chr5 80769591 80769591 - A rs768824453 SSBP2 0 0 0.003 0 0 0 0 1 0 0 0 0 161017 chr2 71351339 71351339 G A rs748574475 MCEE Synonymous SNV I125I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.11 161018 chr3 182810239 182810239 C T rs144230304 MCCC1 Synonymous SNV A77A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.13 161019 chr5 94245049 94245049 T G MCTP1 Nonsynonymous SNV Q253P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 161020 chr16 28508916 28508916 A G rs199840321 APOBR Nonsynonymous SNV S852G 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 0.236 161021 chr3 185998527 185998527 C T rs141011129 DGKG Nonsynonymous SNV D201N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.9 161022 chr2 241465688 241465688 G A rs199698632 ANKMY1 Synonymous SNV D287D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.127 161023 chr3 43075031 43075031 G A rs1042779558 GASK1A Nonsynonymous SNV D426N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 161024 chr16 30078342 30078343 CA - ALDOA Q42Dfs*30 0.001 0 0 2 1 0 0.005 0 0 0 0 0 161025 chr16 30721323 30721323 C T rs372295102 SRCAP Synonymous SNV L336L 0.007 0.008 0 5 8 3 0.013 0 0 0 0 0 10.73 161026 chr18 60206951 60206951 A G rs201863625 ZCCHC2 Nonsynonymous SNV E326G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.95 161027 chr2 242755868 242755868 G C rs182769189 NEU4 Nonsynonymous SNV G76R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.241 161028 chr18 61582879 61582879 C T rs35980016 SERPINB10 Synonymous SNV G45G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.06 161029 chr16 50655550 50655550 C T NKD1 Synonymous SNV S99S 0 0 0 2 0 0 0.005 0 0 0 0 0 12.55 161030 chr6 111688439 111688439 T C rs558576207 REV3L Synonymous SNV P2184P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 161031 chr6 111919058 111919058 G C TRAF3IP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.564 161032 chr16 55600907 55600907 G A rs766790678 CAPNS2 Nonsynonymous SNV R80Q 0 0 0 2 0 0 0.005 0 0 0 0 0 14.26 161033 chr21 45978537 45978537 G T rs145185182 KRTAP10-3 Nonsynonymous SNV A21D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.351 161034 chr3 194081274 194081274 C T rs762285932 LRRC15 Nonsynonymous SNV G167R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.118 161035 chr21 46066675 46066675 T C rs1888528 KRTAP10-11 Synonymous SNV C100C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 161036 chr3 19575232 19575232 C G rs34561654 KCNH8 Nonsynonymous SNV P989A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.088 161037 chr21 46066681 46066681 T C rs587668286 KRTAP10-11 Synonymous SNV P102P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 161038 chr16 56906649 56906649 C T rs121909383 SLC12A3 Nonsynonymous SNV P349L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely pathogenic 33 161039 chr3 47545911 47545911 G A rs377204125 ELP6 Nonsynonymous SNV R78C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.5 161040 chr18 76754477 76754477 - GGCC SALL3 Frameshift insertion C829Wfs*46 0 0.003 0 1 0 1 0.003 0 0 0 0 0 161041 chr2 29259543 29259543 T C rs72788155 TOGARAM2 Nonsynonymous SNV V661A 0.005 0.013 0.014 6 6 5 0.015 4 0 0 0 0 15.71 161042 chr3 49148980 49148980 A G rs781119756 USP19 Nonsynonymous SNV I941T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 161043 chr6 129465146 129465146 G A rs759035344 LAMA2 Nonsynonymous SNV R247K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 161044 chr3 111993752 111993752 T C rs139072859 SLC9C1 Nonsynonymous SNV H202R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.029 161045 chr2 136633927 136633927 G A rs201537325 MCM6 Synonymous SNV L3L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 15.92 161046 chr2 137917869 137917869 A G rs777999154 THSD7B Nonsynonymous SNV I486V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 161047 chr2 32670733 32670733 C A BIRC6 Nonsynonymous SNV T1494K 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 33 161048 chr3 49831032 49831032 A G rs115485248 CDHR4 Nonsynonymous SNV I536T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.1 161049 chr16 66997768 66997768 G T rs369072870 CES3 Nonsynonymous SNV A164S 0.003 0.008 0 6 3 3 0.015 0 0 0 0 0 19.62 161050 chr16 67913397 67913397 G C rs767952965 EDC4 Nonsynonymous SNV E542Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.2 161051 chr3 50006163 50006163 T C rs199777172 RBM6 Synonymous SNV D435D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.007 161052 chr3 36887847 36887847 G A rs535162660 TRANK1 Nonsynonymous SNV R1651W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 161053 chr3 51386357 51386357 C T rs1036903563 DOCK3 Synonymous SNV L1330L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.4 161054 chr3 51969389 51969389 C T RRP9 Nonsynonymous SNV E314K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 161055 chr3 52485422 52485422 G A rs796243470 TNNC1 Nonsynonymous SNV R147C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 161056 chr16 5040852 5040852 T A rs552280365 SEC14L5 Nonsynonymous SNV L144M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 161057 chr6 144795827 144795827 G C rs200639749 UTRN Nonsynonymous SNV G1090R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.8 161058 chr6 147885557 147885557 T C rs776960062 SAMD5 Synonymous SNV L163L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.244 161059 chr6 148865065 148865065 G A rs144633784 SASH1 Nonsynonymous SNV R581Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 27.2 161060 chr6 150209805 150209805 - AAA rs765094508 RAET1E 0.002 0 0.01 0 2 0 0 3 1 0 1 0 161061 chr16 11782249 11782249 G A rs766482127 TXNDC11 Synonymous SNV L199L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 161062 chr3 56667324 56667324 T C rs367668511 TASOR Synonymous SNV Q728Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 161063 chr3 41504679 41504679 T C rs73828047 ULK4 Nonsynonymous SNV K796E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.74 161064 chr16 74335005 74335005 T C rs765299100 PSMD7 Synonymous SNV Y74Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.05 161065 chr6 151674294 151674294 G T AKAP12 Nonsynonymous SNV A1485S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.22 161066 chr16 16286694 16286694 T A rs151187637 ABCC6 Nonsynonymous SNV H475L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 0.383 161067 chr3 62484922 62484922 G A rs199920092 CADPS Nonsynonymous SNV T851I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 161068 chr3 64138955 64138955 G A rs144338942 PRICKLE2 Synonymous SNV G230G 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.37 161069 chr2 55777083 55777085 TTC - rs765351948 PPP4R3B E753del 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 161070 chr3 43073834 43073834 G A rs1025664846 GASK1A Nonsynonymous SNV A27T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 161071 chr6 155174525 155174525 T - rs766347935 MIR1273C 0 0 0.007 0 0 0 0 2 0 0 0 0 161072 chr19 3589903 3589903 C T rs777289758 GIPC3 Synonymous SNV P260P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 18.01 161073 chr2 67631115 67631115 C T rs142977724 ETAA1 Nonsynonymous SNV P434L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.075 161074 chr19 3751464 3751464 C T rs141313948 APBA3 Nonsynonymous SNV E495K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.2 161075 chr16 23544000 23544000 C T rs187662524 EARS2 Nonsynonymous SNV E349K 0.008 0.01 0 2 9 4 0.005 0 0 0 0 0 Uncertain significance 23.7 161076 chr16 84211418 84211418 A G DNAAF1 Nonsynonymous SNV T481A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 161077 chr3 45821545 45821545 C T rs139008024 SLC6A20 Nonsynonymous SNV V104I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 22.6 161078 chr16 84495621 84495621 C T rs773247697 ATP2C2 Nonsynonymous SNV L719F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 161079 chr3 12977332 12977332 C T rs201031929 IQSEC1 Nonsynonymous SNV R395H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 161080 chr3 9984855 9984855 C T rs79223485 CRELD1 Synonymous SNV L276L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 12.27 161081 chr6 161519368 161519391 GCTGCTGCTGCTGCTGTTGCTGCC - rs1017619497 MAP3K4 A1191_A1198del 0 0 0.003 0 0 0 0 1 0 0 0 0 161082 chr6 161587387 161587387 C T rs115923077 AGPAT4 Nonsynonymous SNV A81T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 161083 chr6 166353951 166353951 C T rs187666144 LINC00473 0 0 0.003 0 0 0 0 1 0 0 0 0 6.58 161084 chr3 46245148 46245148 G A rs202010191 CCR1 Synonymous SNV Y219Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.024 161085 chr16 29998981 29998981 C T TAOK2 Nonsynonymous SNV P1130S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 161086 chr16 30536737 30536737 G A rs185407031 ZNF768 Nonsynonymous SNV L242F 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 5.035 161087 chr3 4741510 4741510 C T rs188558398 ITPR1 Nonsynonymous SNV T1459I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 25.8 161088 chr16 30977593 30977593 G A SETD1A Nonsynonymous SNV M797I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.006 161089 chr2 180348073 180348073 G A ZNF385B Nonsynonymous SNV P67L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.26 161090 chr4 106196347 106196347 T C TET2 Synonymous SNV Y1560Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 161091 chr16 88798843 88798843 T C PIEZO1 Nonsynonymous SNV Q964R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.18 161092 chr22 37887241 37887241 C G rs200553561 CARD10 Nonsynonymous SNV E1019Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 161093 chr6 21595920 21595922 CTC - rs568195185 SOX4 S392del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 161094 chr3 49837207 49837207 C T rs201706886 CDHR4 Synonymous SNV P13P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.1 161095 chr2 186665464 186665464 T C rs200617003 FSIP2 Nonsynonymous SNV C3811R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 161096 chr3 52255744 52255744 C T rs5743845 TLR9 Nonsynonymous SNV R863Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.002 161097 chr2 98354490 98354490 C T rs150096962 ZAP70 Synonymous SNV I245I 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.25 161098 chr6 26459964 26459966 ACA - rs762374017 BTN2A1 N53del 0 0 0.003 0 0 0 0 1 0 0 0 0 161099 chr19 7615304 7615304 C G rs138023728 PNPLA6 Synonymous SNV R645R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.3 161100 chr3 52426924 52426924 A G DNAH1 Nonsynonymous SNV T3453A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.205 161101 chr6 27839752 27839752 G A rs148997555 HIST1H3I Synonymous SNV H114H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.917 161102 chr2 190728505 190728505 C T PMS1 Synonymous SNV Y455Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.221 161103 chr6 28135143 28135143 G A rs371973598 ZNF192P1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.402 161104 chr3 101540590 101540590 C T NXPE3 Nonsynonymous SNV P422L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 161105 chr6 28269321 28269321 A G rs11756103 PGBD1 Nonsynonymous SNV I564V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.037 161106 chr2 198643780 198643780 C T rs761940825 BOLL Nonsynonymous SNV S53N 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 13.96 161107 chr16 66918432 66918432 T C rs200009908 PDP2 Nonsynonymous SNV I82T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 161108 chr22 45132665 45132665 C A rs139706999 PRR5 Synonymous SNV L140L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.14 161109 chr16 67418828 67418828 G A rs139373835 LRRC36 Nonsynonymous SNV G580S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.95 161110 chr6 36298070 36298070 G A rs758606753 BNIP5 Nonsynonymous SNV P133L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.125 161111 chr6 37414212 37414212 G A rs141582725 CMTR1 Nonsynonymous SNV R144Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 161112 chr6 39281903 39281903 T C rs373663901 KCNK17 Nonsynonymous SNV N65S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 161113 chr4 154601171 154601171 C T rs12331069 LOC100419170 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.3 161114 chr3 11643495 11643495 G A rs568979673 VGLL4 Synonymous SNV G28G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.61 161115 chr6 39311570 39311570 C T rs34836492 KIF6 Synonymous SNV S232S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.98 161116 chr3 73433552 73433552 T A rs753850622 PDZRN3 Nonsynonymous SNV H420L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 161117 chr2 209028127 209028127 T A rs61743752 CRYGA Nonsynonymous SNV N18I 0.001 0.005 0.01 3 1 2 0.008 3 0 0 0 0 22.6 161118 chr2 210658547 210658547 C T rs564175384 UNC80 Nonsynonymous SNV S301F 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 31 161119 chr4 155470061 155470061 G A rs772398370 PLRG1 Synonymous SNV T12T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.364 161120 chr4 155507084 155507084 T C rs747068833 FGA Synonymous SNV T499T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.068 161121 chr2 214215301 214215301 G T rs775088314 SPAG16 Stop gain E232X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 41 161122 chr3 99509813 99509813 C T rs144518762 COL8A1 Nonsynonymous SNV A96V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.636 161123 chr4 162307498 162307498 G A rs759036058 FSTL5 Nonsynonymous SNV P639S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 161124 chr3 122437253 122437253 G T PARP14 Nonsynonymous SNV V1419F 0.002 0 0 0 2 0 0 0 0 0 0 0 19.03 161125 chr2 217498273 217498296 GCTGCCGCTGCCGCCGCCGCCGCT - IGFBP2 P13_L20del 0 0.005 0 0 0 2 0 0 0 1 0 0 161126 chr3 124438313 124438313 C G KALRN Nonsynonymous SNV T1288R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 161127 chr16 81385286 81385286 A T GAN Nonsynonymous SNV Y89F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 161128 chr4 178274724 178274724 G A NEIL3 Synonymous SNV K434K 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.38 161129 chr4 184203963 184203963 C T rs74554938 WWC2 Synonymous SNV C929C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 5.248 161130 chr4 184210599 184210599 A G rs34754577 WWC2 Synonymous SNV T1065T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 1.429 161131 chr4 184240842 184240842 A G rs61734096 CLDN22 Nonsynonymous SNV L177P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23 161132 chr4 184243189 184243189 T C rs113396985 CLDN24 Nonsynonymous SNV I131V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.001 161133 chr17 7495219 7495219 T C rs190521854 FXR2 Nonsynonymous SNV K651E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 15.38 161134 chr3 193096513 193096513 A G rs751753461 ATP13A5 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 161135 chr3 193366592 193366592 A G rs781571640 OPA1 Synonymous SNV L557L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.427 161136 chr4 111553605 111553605 G T PITX2 Nonsynonymous SNV F26L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 161137 chr17 7751350 7751350 G A KDM6B Nonsynonymous SNV D582N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.29 161138 chr4 187201527 187201527 G T rs5967 F11 Nonsynonymous SNV C339F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.2 161139 chr19 15565508 15565508 G A rs186486022 RASAL3 Synonymous SNV L640L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 9.284 161140 chr4 2062735 2062735 C T rs769998299 NAT8L Synonymous SNV F129F 0.007 0.008 0 4 8 3 0.01 0 0 0 0 0 11.44 161141 chr19 16187399 16187399 G A TPM4 Synonymous SNV E8E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 161142 chr4 128751804 128751804 T C rs11934062 HSPA4L Synonymous SNV Y685Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.568 161143 chr3 1415639 1415639 T C CNTN6 Synonymous SNV N555N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.37 161144 chr4 30725734 30725734 T C rs141007619 PCDH7 Nonsynonymous SNV I897T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 161145 chr17 19189033 19189033 C T rs71369411 EPN2 Synonymous SNV H232H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 11 161146 chr17 19999999 19999999 T G rs146091398 SPECC1 Nonsynonymous SNV I12S 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 4.75 161147 chr6 90398214 90398214 C A rs898026419 LOC101929057 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 161148 chr6 90417175 90417175 C T rs184227056 MDN1 Nonsynonymous SNV R2640Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 161149 chr4 152638071 152638071 G A rs745717802 GATB Synonymous SNV H199H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.966 161150 chr4 153831299 153831299 G T ARFIP1 Nonsynonymous SNV Q318H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.7 161151 chr3 167344719 167344719 G A rs200481464 WDR49 Nonsynonymous SNV T176I 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 16.62 161152 chr7 100481809 100481809 C G rs139718904 SRRT Nonsynonymous SNV L236V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.71 161153 chr17 3477192 3477192 G A rs201623833 TRPV1 Nonsynonymous SNV S613L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 6.531 161154 chr2 241874844 241874844 G A rs117744203 CROCC2 Nonsynonymous SNV E670K 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 14.27 161155 chr17 4636453 4636453 C T rs770295047 MED11 Stop gain R109X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 161156 chr3 184026665 184026665 A C PSMD2 Nonsynonymous SNV N775T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 161157 chr4 1807298 1807298 A T FGFR3 Nonsynonymous SNV D404V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 161158 chr17 36667183 36667183 C T rs9303325 ARHGAP23 Nonsynonymous SNV A1484V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.6 161159 chr3 186459435 186459435 G A rs527717270 KNG1 Nonsynonymous SNV R417Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.001 161160 chr17 6599078 6599078 C T rs150203483 SLC13A5 Stop gain W298X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 41 161161 chr4 71835658 71835658 C T rs149160899 MOB1B Synonymous SNV F64F 0.005 0 0.003 0 6 0 0 1 0 0 0 0 13.14 161162 chr17 7129898 7129898 G A rs72839768 DVL2 Nonsynonymous SNV T535I 0.004 0.005 0.017 3 5 2 0.008 5 0 0 0 0 26.1 161163 chr4 187518072 187518072 G A rs201960763 FAT1 Nonsynonymous SNV R4208W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.6 161164 chr17 38189411 38189411 G A rs200354671 MED24 Synonymous SNV G227G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.579 161165 chr3 194080067 194080067 T G rs887397148 LRRC15 Nonsynonymous SNV Q569P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 161166 chr17 7323821 7323821 A G rs183150632 SPEM1 Nonsynonymous SNV N40D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 161167 chr7 111970154 111970154 C T rs199547117 ZNF277 Synonymous SNV Y228Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 161168 chr17 9408408 9408408 G A rs764259061 STX8 Nonsynonymous SNV T132I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 161169 chr3 21706469 21706469 G T rs114302168 ZNF385D Nonsynonymous SNV P25H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 161170 chr17 9885143 9885143 G C rs770166914 GAS7 Nonsynonymous SNV H57Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.57 161171 chr4 3211636 3211636 G A rs764790738 HTT Nonsynonymous SNV R2125Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 161172 chr7 130025066 130025066 T C rs115663631 CPA1 Synonymous SNV I289I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.496 161173 chr17 39890753 39890753 C A HAP1 Nonsynonymous SNV G45V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 161174 chr4 38928601 38928601 G A FAM114A1 Nonsynonymous SNV R400H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.903 161175 chr4 39229975 39229975 A G rs190192706 WDR19 Nonsynonymous SNV Q432R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.29 161176 chr17 18034836 18034836 C T MYO15A Synonymous SNV I1399I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.93 161177 chr17 18145294 18145294 C T rs760825714 LLGL1 Nonsynonymous SNV R955C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 161178 chr7 139225098 139225098 C A CLEC2L Synonymous SNV P74P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 161179 chr3 40275481 40275481 G C MYRIP Synonymous SNV G492G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.894 161180 chr7 140439657 140439657 T C rs375174370 BRAF Synonymous SNV A694A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.015 161181 chr5 10402207 10402207 A G rs144052844 MARCHF6 Nonsynonymous SNV I232V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 161182 chr19 42794894 42794894 G A rs750975008 CIC Synonymous SNV G658G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 161183 chr17 26864204 26864204 C T rs12603884 FOXN1 Nonsynonymous SNV P566L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.88 161184 chr2 74657782 74657782 C T rs145310583 RTKN Nonsynonymous SNV A112T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 14.32 161185 chr17 46862425 46862425 T C rs769879604 TTLL6 Nonsynonymous SNV T327A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 161186 chr7 149477328 149477328 C T rs774244330 SSPO 0 0.005 0.003 0 0 2 0 1 0 0 0 0 16.15 161187 chr3 45637319 45637319 G A rs766216215 LIMD1 Synonymous SNV S316S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.36 161188 chr17 48151844 48151844 C T rs773673876 ITGA3 Nonsynonymous SNV T472I 0 0 0 3 0 0 0.008 0 0 0 0 0 25.3 161189 chr4 10446653 10446653 A G ZNF518B Nonsynonymous SNV W434R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 161190 chr17 33288412 33288412 T C rs148462020 CCT6B Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 161191 chr19 44589967 44589967 T C rs764170927 ZNF284 Synonymous SNV T112T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.142 161192 chr4 108935686 108935686 G A rs377615662 HADH Nonsynonymous SNV V121M 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 25.3 161193 chr3 46717117 46717117 G C rs142447205 ALS2CL Nonsynonymous SNV T749R 0.003 0 0 0 4 0 0 0 0 0 0 0 2.111 161194 chr7 1512807 1512807 C T rs766230774 INTS1 Nonsynonymous SNV D1991N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 161195 chr2 88874909 88874909 G A rs189064501 EIF2AK3 Nonsynonymous SNV R547C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.72 161196 chr7 155187813 155187813 C T LOC100286906 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 161197 chr4 71554974 71554974 C T rs111485612 UTP3 Nonsynonymous SNV P194S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.007 161198 chr3 48310029 48310029 G A rs564454039 ZNF589 Nonsynonymous SNV R283Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.798 161199 chr4 114824393 114824393 G A rs201802850 ARSJ Synonymous SNV F279F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.706 161200 chr4 115997968 115997968 T G rs143380256 NDST4 Nonsynonymous SNV K75N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.22 161201 chr3 48683674 48683674 C T rs143320362 CELSR3 Nonsynonymous SNV V2438I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 161202 chr4 119951109 119951109 G C SYNPO2 Synonymous SNV G393G 0.003 0 0 0 4 0 0 0 0 0 0 0 9.062 161203 chr17 56598923 56598923 G C SEPTIN4 Nonsynonymous SNV Q235E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.684 161204 chr17 59924572 59924572 G A rs4988345 BRIP1 Nonsynonymous SNV R173C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 161205 chr7 2290295 2290295 G A rs34750471 NUDT1 Nonsynonymous SNV R106H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 161206 chr4 126412911 126412911 A G rs149073729 FAT4 Synonymous SNV E4979E 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Benign 3.816 161207 chr3 51749265 51749265 C T rs755186954 GRM2 Synonymous SNV A114A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.15 161208 chr3 52003572 52003572 C G ABHD14B Nonsynonymous SNV S130T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 161209 chr5 139892417 139892417 A G rs772142702 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV H1370R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 161210 chr17 62290909 62290909 C T rs144990420 TEX2 Synonymous SNV T223T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.97 161211 chr17 64224220 64224220 C A rs55772214 APOH Synonymous SNV P53P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 14.36 161212 chr3 5243571 5243571 G A rs147494567 EDEM1 Nonsynonymous SNV A274T 0.002 0 0 0 2 0 0 0 0 0 0 0 33 161213 chr5 140181076 140181076 G A rs138150756 PCDHA3 Synonymous SNV R98R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 161214 chr5 140230402 140230402 G C rs782538038 PCDHA9 Synonymous SNV P774P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 161215 chr4 146071849 146071849 C A rs756803019 OTUD4 Nonsynonymous SNV V294L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.088 161216 chr4 149357072 149357072 G A NR3C2 Nonsynonymous SNV S314L 0.004 0 0 0 5 0 0 0 0 0 0 0 27.4 161217 chr5 140346912 140346912 C A PCDHAC2 Synonymous SNV L187L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 161218 chr5 140348627 140348627 A G PCDHAC2 Nonsynonymous SNV Q759R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 161219 chr7 32957976 32957976 C A rs34326782 RP9P 0 0 0.01 0 0 0 0 3 0 0 0 0 7.548 161220 chr17 71384016 71384016 C T rs2270723 SDK2 Synonymous SNV S1451S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.09 161221 chr5 140579524 140579524 G A rs782618138 PCDHB11 Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.089 161222 chr5 140751360 140751360 C T rs768654364 PCDHGB3 Nonsynonymous SNV P467S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.672 161223 chr7 37956038 37956038 G A rs112343199 SFRP4 Synonymous SNV H34H 0.005 0.005 0.007 2 6 2 0.005 2 0 0 0 0 Benign 8.954 161224 chr19 49657710 49657710 - CATCAT rs541138770 HRC D261_V262insDD 0.006 0.008 0.003 4 7 3 0.01 1 0 0 0 0 161225 chr3 58141751 58141751 G A rs146734593 FLNB Synonymous SNV P2255P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.2 161226 chr3 119222805 119222805 G C rs757017245 TIMMDC1 Nonsynonymous SNV V152L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.33 161227 chr7 42004566 42004566 C T GLI3 Nonsynonymous SNV G1369S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 161228 chr7 44736634 44736634 C T rs755538424 OGDH Synonymous SNV S670S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 161229 chr3 73064116 73064116 A G rs141334840 PPP4R2 Nonsynonymous SNV K56R 0.002 0.013 0.017 2 2 5 0.005 5 0 0 0 0 3.101 161230 chr5 101576476 101576476 G C rs769679748 SLCO4C1 Nonsynonymous SNV H608D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.859 161231 chr17 41056002 41056002 C G G6PC Nonsynonymous SNV S95R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.535 161232 chr4 159140468 159140468 C T rs759213453 TMEM144 Synonymous SNV G113G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.05 161233 chr5 146258293 146258293 - GCT PPP2R2B S19_C20insS 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 161234 chr17 73568010 73568010 G A rs539488839 LLGL2 Synonymous SNV P775P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.447 161235 chr19 50720992 50720992 G A rs138001307 MYH14 Nonsynonymous SNV A176T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 28.2 161236 chr4 169927925 169927925 T C CBR4 Synonymous SNV G127G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.1 161237 chr19 51379817 51379817 C T rs368210672 KLK2 Nonsynonymous SNV P99L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 161238 chr4 100867714 100867714 C T rs372615832 DNAJB14 Synonymous SNV R5R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.72 161239 chr4 10099440 10099440 G A rs367797658 WDR1 Synonymous SNV S151S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 161240 chr4 102816536 102816536 T G BANK1 Synonymous SNV S193S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.381 161241 chr7 55260497 55260497 C G rs756403828 EGFR Nonsynonymous SNV H621Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 161242 chr5 132018242 132018242 C T rs145068648 IL4 Nonsynonymous SNV T126M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.211 161243 chr7 6693038 6693038 C G rs968399845 ZNF316 Nonsynonymous SNV P604R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 9.544 161244 chr7 72849341 72849341 C G FZD9 Nonsynonymous SNV T335R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 161245 chr5 167675211 167675211 G A rs577093987 TENM2 Nonsynonymous SNV V2184I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.53 161246 chr4 122071372 122071372 A G rs769392602 TNIP3 Synonymous SNV A165A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.221 161247 chr5 138723457 138723457 G C rs150466273 MZB1 Synonymous SNV L189L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.14 161248 chr17 79511093 79511093 T C rs573532888 FAAP100 Synonymous SNV Q788Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 161249 chr7 82583725 82583725 G T rs763720952 PCLO Nonsynonymous SNV P2182T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 161250 chr7 82584284 82584284 A C rs766498418 PCLO Synonymous SNV L1995L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.003 161251 chr17 79988670 79988670 C A LRRC45 Nonsynonymous SNV P668T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 161252 chr17 80137012 80137012 T A rs369450670 CCDC57 Nonsynonymous SNV D422V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.7 161253 chr19 55178156 55178156 G A rs532643436 LILRB4 Nonsynonymous SNV V363M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.018 161254 chr4 38691415 38691415 G A rs377705302 KLF3 Nonsynonymous SNV E204K 0.006 0 0 0 7 0 0 0 0 0 0 0 23.6 161255 chr7 91694743 91694743 A G rs73226383 AKAP9 Nonsynonymous SNV E2059G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 161256 chr7 93055869 93055869 T C rs781657977 CALCR Synonymous SNV Q408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 161257 chr5 140502067 140502067 A C PCDHB4 Nonsynonymous SNV S163R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.456 161258 chr4 41607967 41607967 C T rs145109989 LIMCH1 Synonymous SNV S144S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 161259 chr19 55858363 55858363 G A rs776285868 KMT5C Nonsynonymous SNV R312H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.948 161260 chr18 5891377 5891397 GCGGCGGCCGCGGCGGCGGCC - rs764956085 TMEM200C A224_A230del 0 0 0 4 0 0 0.01 0 0 0 0 0 161261 chr18 9525772 9525772 T C rs759034779 RALBP1 Nonsynonymous SNV S424P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 161262 chr8 10467031 10467031 G A rs267601688 RP1L1 Nonsynonymous SNV T1526M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.321 161263 chr8 10480439 10480439 G A rs201810499 RP1L1 Synonymous SNV S91S 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.95 161264 chr5 34814696 34814696 T C rs375482245 RAI14 Synonymous SNV D258D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.692 161265 chr8 113960025 113960025 T C rs61754526 CSMD3 Nonsynonymous SNV D371G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 161266 chr8 11414280 11414280 C T rs747203028 BLK Synonymous SNV L225L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 161267 chr8 11706624 11706624 T C rs747940488 CTSB Nonsynonymous SNV N126S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 161268 chr17 73888486 73888486 G A rs147573058 TRIM65 Synonymous SNV I202I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.343 161269 chr3 168845711 168845711 C G MECOM Nonsynonymous SNV E63Q 0.001 0.013 0 1 1 5 0.003 0 0 0 0 0 10.96 161270 chr5 40765107 40765107 T C rs775398537 PRKAA1 Nonsynonymous SNV Y208C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.6 161271 chr5 40931190 40931190 G T rs768841111 C7 Nonsynonymous SNV Q29H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.91 161272 chr18 22669501 22669501 G T rs763175327 ZNF521 Synonymous SNV A1058A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.501 161273 chr8 124357188 124357188 G C ATAD2 Nonsynonymous SNV P885R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.6 161274 chr4 5990682 5990682 G C C4orf50 Nonsynonymous SNV L852V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.873 161275 chr18 28934374 28934374 A G rs78995670 DSG1 Nonsynonymous SNV I739V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 24.7 161276 chr18 31318484 31318484 C T rs117356074 ASXL3 Synonymous SNV L372L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 4.365 161277 chr5 475270 475270 G C rs958340040 SLC9A3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.412 161278 chr2 71206976 71206976 C T rs142005066 ANKRD53 Synonymous SNV G201G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.24 161279 chr17 76803115 76803115 T C rs947073273 USP36 Nonsynonymous SNV S671G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 161280 chr19 58049988 58049988 G A rs200138631 ZNF549 Nonsynonymous SNV S526N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.9 161281 chr18 34366900 34366900 C T rs139703292 TPGS2 Nonsynonymous SNV R267Q 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 10.05 161282 chr5 52374612 52374612 A G ITGA2 Nonsynonymous SNV I946V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.93 161283 chr2 73493602 73493602 G A rs200330670 FBXO41 Nonsynonymous SNV R372W 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 20.3 161284 chr5 150946328 150946328 A G rs142276415 FAT2 Nonsynonymous SNV I722T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 24.4 161285 chr17 78092118 78092118 C A GAA Synonymous SNV R870R 0.006 0.003 0 0 7 1 0 0 0 0 0 0 20.7 161286 chr18 44407964 44407964 T G PIAS2 Nonsynonymous SNV K489T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 16.97 161287 chr5 154173243 154173243 G A rs148969753 LARP1 Synonymous SNV P71P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.565 161288 chr8 142367320 142367320 C T rs747880985 GPR20 Nonsynonymous SNV R235H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 161289 chr8 142367776 142367776 C T rs370181787 GPR20 Nonsynonymous SNV R83Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.802 161290 chr18 51904551 51904551 C T C18orf54 Nonsynonymous SNV H333Y 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.6 161291 chr4 187629490 187629490 C T rs200350035 FAT1 Nonsynonymous SNV V498M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 161292 chr5 158267067 158267067 C T rs145616949 EBF1 Synonymous SNV A179A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 18.17 161293 chr17 79093270 79093270 - GGGCGTGGGCGCGGGCGT AATK P1228_A1229insTPAPTP 0.006 0.003 0 0 7 1 0 0 0 0 0 0 161294 chr5 64875413 64875413 A G rs774916161 PPWD1 Synonymous SNV T285T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.604 161295 chr5 65054568 65054568 C T rs34838640 NLN Synonymous SNV Y72Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 161296 chr17 79495922 79495922 C A FSCN2 Nonsynonymous SNV A122D 0.005 0.016 0 0 6 6 0 0 0 0 0 0 25.4 161297 chr4 79254522 79254522 C G FRAS1 Nonsynonymous SNV S745C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 161298 chr5 70820011 70820011 C A rs952612519 BDP1 Nonsynonymous SNV A1878D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 161299 chr5 173035296 173035296 - TTAGGAAGTGTCCTGGGATGGAGCTGGAGGG BOD1 0.001 0 0 0 1 0 0 0 0 0 0 0 161300 chr20 3870127 3870127 G T rs528149001 PANK2 Nonsynonymous SNV G127V 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Benign/Likely benign 24.1 161301 chr17 81052231 81052231 G A rs1009641813 METRNL Nonsynonymous SNV G283S 0.003 0.013 0 0 4 5 0 0 0 0 0 0 23.9 161302 chr3 197427741 197427741 C T rs774252330 RUBCN Nonsynonymous SNV R275Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 161303 chr5 179201725 179201725 G A rs151168257 MAML1 Synonymous SNV A966A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 161304 chr4 41684379 41684379 T A rs530847924 LIMCH1 Nonsynonymous SNV D698E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 161305 chr3 36779145 36779145 G A rs373984062 DCLK3 Nonsynonymous SNV R336W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.6 161306 chr20 17608205 17608205 G A rs41276394 RRBP1 Nonsynonymous SNV R958C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 161307 chr8 145741641 145741641 C T rs199706417 RECQL4 Nonsynonymous SNV G288R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.863 161308 chr18 72346047 72346047 T G rs199675086 ZNF407 Nonsynonymous SNV F1024L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 21.1 161309 chr8 146228552 146228552 A G rs117777718 ZNF252P-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.58 161310 chr5 82833426 82833426 A G rs61749614 VCAN Nonsynonymous SNV E548G 0.009 0.016 0.014 6 10 6 0.015 4 0 0 0 0 Benign/Likely benign 7.774 161311 chr20 30602705 30602705 A G CCM2L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 161312 chr19 805001 805001 C T rs368491433 MIR4745 0 0 0 1 0 0 0.003 0 0 0 0 0 5.237 161313 chr8 21937734 21937734 T C rs139013587 DMTN Synonymous SNV Y253Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.152 161314 chr5 112769675 112769675 C A rs34696815 TSSK1B Nonsynonymous SNV G288W 0.011 0.008 0.003 1 13 3 0.003 1 0 0 0 0 23.5 161315 chr20 31829214 31829214 G A BPIFA1 Nonsynonymous SNV G202D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 161316 chr20 33451342 33451342 G C GGT7 Nonsynonymous SNV S60C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 161317 chr8 22461008 22461008 C A rs1040216156 LOC107986876 0 0 0.003 0 0 0 0 1 0 0 0 0 7.668 161318 chr8 22582461 22582461 C G rs201641159 PEBP4 Nonsynonymous SNV A138P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.54 161319 chr5 9630007 9630007 G C rs367652541 TAS2R1 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 161320 chr8 22862115 22862115 C T rs61732770 RHOBTB2 Synonymous SNV I63I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.98 161321 chr8 22874892 22874892 A G rs759652 RHOBTB2 Synonymous SNV K705K 0.007 0.008 0.007 1 8 3 0.003 2 1 0 0 0 9.324 161322 chr8 22874927 22874927 C T rs146723409 RHOBTB2 Nonsynonymous SNV P717L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 161323 chr4 70361431 70361431 C T rs186204730 UGT2B4 Nonsynonymous SNV G50D 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 24 161324 chr6 106553696 106553696 G T PRDM1 Nonsynonymous SNV R420I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 161325 chr20 40827956 40827956 G T rs370526586 PTPRT Nonsynonymous SNV D805E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.06 161326 chr5 130843896 130843896 T C rs575190193 RAPGEF6 Synonymous SNV Q270Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.024 161327 chr4 74864294 74864294 C T rs200226758 CXCL5 Nonsynonymous SNV S2N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 161328 chr19 1357083 1357083 C T PWWP3A Synonymous SNV L45L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.03 161329 chr5 133997145 133997145 C G SEC24A Nonsynonymous SNV T145R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.755 161330 chr4 77172904 77172904 C G rs578009899 FAM47E, FAM47E-STBD1 Nonsynonymous SNV A2G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 161331 chr6 112493823 112493823 C T rs146358872 LAMA4 Nonsynonymous SNV R514Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 161332 chr8 37690634 37690634 C T rs200841231 ADGRA2 Nonsynonymous SNV R402W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 161333 chr19 2733331 2733331 G A SLC39A3 Synonymous SNV F121F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.109 161334 chr3 49568796 49568796 C T rs377173064 DAG1 Synonymous SNV G284G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 161335 chr8 38458755 38458755 C T rs113936658 RNF5P1 0 0 0.017 0 0 0 0 5 0 0 0 0 6.224 161336 chr6 119137412 119137412 C T MCM9 Synonymous SNV E669E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.331 161337 chr19 2978281 2978281 C T rs1040845559 TLE6 Nonsynonymous SNV S17L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 161338 chr8 41551462 41551462 G A rs35964634 ANK1 Synonymous SNV S1162S 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 14.96 161339 chr19 3151780 3151780 G A rs2230330 GNA15 Nonsynonymous SNV M187I 0.006 0.008 0 3 7 3 0.008 0 0 0 0 0 Benign 21.9 161340 chr20 47700694 47700694 C G rs770684219 CSE1L Synonymous SNV A482A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 161341 chr4 8588989 8588989 G A rs201815998 GPR78 Nonsynonymous SNV G331S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.113 161342 chr19 4307899 4307899 G A rs200626312 FSD1 Synonymous SNV T88T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.49 161343 chr19 4429543 4429543 G C rs781175892 CHAF1A Nonsynonymous SNV W571C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.3 161344 chr6 138192398 138192398 T C rs138988092 TNFAIP3 Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.854 161345 chr20 57266571 57266571 C T rs559244577 STX16-NPEPL1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.328 161346 chr8 77690477 77690477 G A rs572353774 ZFHX4 Nonsynonymous SNV E1043K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 161347 chr8 77775475 77775475 C T ZFHX4 Synonymous SNV S3175S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 161348 chr8 86253837 86253837 C T rs777216408 CA1 Nonsynonymous SNV D10N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 161349 chr4 96761363 96761363 T A rs142094055 PDHA2 Nonsynonymous SNV V21E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 161350 chr18 74728819 74728819 T A MBP Nonsynonymous SNV D49V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 161351 chr8 95884157 95884157 G C INTS8 Nonsynonymous SNV E820D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 161352 chr6 152652399 152652399 C T rs771898973 SYNE1 Nonsynonymous SNV R4403Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 161353 chr3 73434070 73434070 G A PDZRN3 Synonymous SNV D247D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 161354 chr3 78656062 78656062 G A rs199958211 ROBO1 Nonsynonymous SNV S1422L 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 22.9 161355 chr5 94956345 94956345 C T rs7733295 GPR150 Synonymous SNV C122C 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 14.8 161356 chr9 105340650 105340650 C A rs78185063 LINC00587 0 0 0.027 0 0 0 0 8 0 0 0 0 7.478 161357 chr9 105340677 105340677 G A rs41313341 LINC00587 0 0 0.027 0 0 0 0 8 0 0 0 0 2.283 161358 chr6 159052369 159052369 G C TMEM181 Nonsynonymous SNV D570H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 161359 chr6 159590915 159590915 G T rs1028037587 LOC101929122 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 161360 chr6 159644650 159644650 A T rs200234725 FNDC1 Nonsynonymous SNV E286V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 24.1 161361 chr19 7987346 7987346 C T rs761191300 SNAPC2 Synonymous SNV L234L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 10.76 161362 chr5 118323840 118323840 G A rs113779172 DTWD2 Nonsynonymous SNV P2L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.778 161363 chr6 159653467 159653467 C A rs201950696 FNDC1 Nonsynonymous SNV D641E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 18.82 161364 chr5 118485238 118485238 G C rs112912947 DMXL1 Nonsynonymous SNV C1239S 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 5.032 161365 chr19 8209854 8209854 T A rs117724347 FBN3 Nonsynonymous SNV I150F 0.008 0 0 5 9 0 0.013 0 0 0 0 0 Likely benign 23.5 161366 chr6 160461737 160461737 C T rs372161921 IGF2R Synonymous SNV S487S 0.004 0.005 0 1 5 2 0.003 0 0 1 0 0 15.32 161367 chr6 166912059 166912059 G C RPS6KA2 Synonymous SNV P130P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.26 161368 chr21 30433651 30433651 C T rs778822528 CCT8 Nonsynonymous SNV V385I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 161369 chr4 106156414 106156414 A - TET2 N439Tfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 161370 chr19 1827020 1827020 - GGA rs143867072 REXO1 S589_T590insS 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 161371 chr6 111701360 111701360 G A rs569881635 REV3L Nonsynonymous SNV R427W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 161372 chr6 112476110 112476110 C A rs397516720 LAMA4 Nonsynonymous SNV D667Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 161373 chr9 116346602 116346602 C T rs141630327 RGS3 Synonymous SNV A291A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.924 161374 chr5 135276758 135276758 C T rs745401393 FBXL21P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.089 161375 chr3 184072093 184072093 G A rs769768770 CLCN2 Nonsynonymous SNV A462V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 161376 chr9 117848395 117848395 G A rs201758398 TNC Stop gain Q539X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 161377 chr5 138760734 138760734 C T rs772188857 DNAJC18 Nonsynonymous SNV R210K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21 161378 chr21 37642318 37642318 C G rs138528690 DOP1B Nonsynonymous SNV T1832S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 24.7 161379 chr9 119770405 119770405 T G rs370234322 ASTN2 Synonymous SNV T468T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.903 161380 chr6 24476477 24476477 G A GPLD1 Nonsynonymous SNV H88Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 161381 chr5 167689123 167689123 A G rs142439810 TENM2 Nonsynonymous SNV I2306V 0.003 0 0 0 4 0 0 0 0 0 0 0 13.75 161382 chr19 9582054 9582054 T C rs150318401 ZNF560 Nonsynonymous SNV D80G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.444 161383 chr5 168151443 168151443 C T rs138524475 SLIT3 Nonsynonymous SNV A773T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 161384 chr9 125437725 125437725 T C rs16912096 OR1L3 Nonsynonymous SNV V106A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.153 161385 chr5 140235787 140235787 G A rs150172685 PCDHA10 Nonsynonymous SNV G52R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 26.1 161386 chr9 125437769 125437769 A G rs16912099 OR1L3 Nonsynonymous SNV N121D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 5.707 161387 chr9 125438244 125438244 T C rs74634130 OR1L3 Nonsynonymous SNV V279A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.8 161388 chr9 125438378 125438378 C T rs79636164 OR1L3 Nonsynonymous SNV P324S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.6 161389 chr19 11032298 11032298 C T rs150726474 CARM1 Synonymous SNV S541S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.92 161390 chr19 11039869 11039869 G A TIMM29 Nonsynonymous SNV G92R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.44 161391 chr5 140745200 140745200 G A rs920081153 PCDHGA5 Nonsynonymous SNV E435K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.025 161392 chr21 43496263 43496263 C T rs372434194 UMODL1 Nonsynonymous SNV R76W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 161393 chr4 129778510 129778510 A G rs17013835 JADE1 Synonymous SNV P282P 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Benign 4.173 161394 chr4 129792787 129792787 A G rs6850940 JADE1 Synonymous SNV L621L 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Benign 0.023 161395 chr4 129792873 129792873 A G rs6855813 JADE1 Nonsynonymous SNV N650S 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Benign 3.142 161396 chr19 4847775 4847775 C A rs140100737 PLIN3 Synonymous SNV S254S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.9 161397 chr19 11510606 11510606 G C rs939607739 RGL3 Synonymous SNV P557P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.313 161398 chr9 127631655 127631655 - GGC rs757429790 ARPC5L A35_E36insA 0 0 0.003 0 0 0 0 1 0 0 0 0 161399 chr5 176931658 176931658 C T rs145507014 DOK3 Nonsynonymous SNV V217M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.44 161400 chr6 34664434 34664434 G T rs949668953 LOC101929243 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 17.7 161401 chr19 5931460 5931460 T C rs761477217 RANBP3 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.786 161402 chr21 44590695 44590695 C T rs371043886 CRYAA, CRYAA2 Synonymous SNV T86T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.74 161403 chr6 13814391 13814391 C T rs940332306 MCUR1 Nonsynonymous SNV D91N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.58 161404 chr6 138200257 138200257 T C TNFAIP3 Nonsynonymous SNV C559R 0.005 0 0 0 6 0 0 0 0 0 0 0 21.2 161405 chr9 131185521 131185521 C T rs139357437 CERCAM Synonymous SNV N57N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.09 161406 chr9 133805356 133805356 G A rs757060524 FIBCD1 Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.173 161407 chr6 38790796 38790796 G C rs201420305 DNAH8 Nonsynonymous SNV D1019H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.72 161408 chr6 39159072 39159072 T A rs41273124 KCNK5 Nonsynonymous SNV K365I 0.003 0 0 0 3 0 0 0 0 0 0 0 28.7 161409 chr19 15292590 15292590 C T rs530503488 NOTCH3 Synonymous SNV S863S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.81 161410 chr4 158065029 158065029 C T rs147320218 GLRB Synonymous SNV Y274Y 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.57 161411 chr9 137704486 137704486 C T rs150591401 COL5A1 Synonymous SNV S1260S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.2 161412 chr5 150931083 150931083 G A rs778228742 FAT2 Nonsynonymous SNV S1414L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 161413 chr6 15496776 15496776 C G rs200640529 JARID2 Synonymous SNV S268S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 7.911 161414 chr9 139264801 139264801 T C rs751849304 CARD9 Nonsynonymous SNV N299S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.02 161415 chr5 38528838 38528838 T C rs61751710 LIFR Nonsynonymous SNV I83V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Uncertain significance 6.58 161416 chr9 139399213 139399213 G A rs568700183 NOTCH1 Synonymous SNV L1644L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.018 161417 chr5 160114968 160114968 C G rs143058491 ATP10B Nonsynonymous SNV Q82H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.46 161418 chr5 161530980 161530980 A G rs78261481 GABRG2 Synonymous SNV Q239Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.833 161419 chr5 43246057 43246057 G A rs61746246 NIM1K Synonymous SNV K60K 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 11.84 161420 chr6 161653189 161653189 G A rs371607424 AGPAT4 Synonymous SNV Y19Y 0.003 0 0 0 4 0 0 0 0 0 0 0 11.57 161421 chr6 16327801 16327801 G A rs772985496 ATXN1 Synonymous SNV Y247Y 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 0.045 161422 chr19 19312316 19312316 C T rs191859379 NR2C2AP Synonymous SNV P157P 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.122 161423 chr19 19378859 19378859 G A rs186811910 TM6SF2 Nonsynonymous SNV P216L 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 25.9 161424 chr4 187130311 187130311 G A rs113521707 CYP4V2 Synonymous SNV P430P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.146 161425 chr6 25966952 25966952 A G rs140538175 TRIM38 Nonsynonymous SNV M68V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 161426 chr6 170104181 170104181 C T rs148902304 PHF10 Nonsynonymous SNV R472H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 161427 chr6 71234574 71234574 A T rs769475806 FAM135A Nonsynonymous SNV D563V 0.003 0 0 0 3 0 0 0 0 0 0 0 17.14 161428 chr19 24115978 24115978 G A rs751357019 ZNF726 Nonsynonymous SNV G354R 0 0.005 0 3 0 2 0.008 0 0 0 0 0 23.1 161429 chr5 61876779 61876779 A T rs748179051 LRRC70 Nonsynonymous SNV D505V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 161430 chr22 31045201 31045201 G A rs145566570 SLC35E4 Nonsynonymous SNV R225Q 0.003 0.005 0.014 2 4 2 0.005 4 0 0 0 0 6.945 161431 chr3 50324124 50324124 - CTAA rs781899863 LSMEM2 Frameshift insertion E66Nfs*2 0.002 0 0 1 2 0 0.003 0 0 0 0 0 161432 chr5 6633965 6633965 C T rs748207745 SRD5A1 Nonsynonymous SNV S101L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.96 161433 chr6 24651232 24651232 T C rs372373164 TDP2 Synonymous SNV K291K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.285 161434 chr6 25610339 25610339 A G rs201869110 CARMIL1 Synonymous SNV K1297K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 4.296 161435 chr19 11354242 11354242 A T DOCK6 Nonsynonymous SNV S417T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 161436 chr9 33927889 33927889 G C rs915107047 UBAP2 Synonymous SNV S706S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.212 161437 chr9 34241671 34241671 A G rs900649680 UBAP1 Synonymous SNV A280A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.654 161438 chr22 32111362 32111362 T C rs200364483 PRR14L Nonsynonymous SNV I821M 0 0 0 1 0 0 0.003 0 0 0 0 0 3.536 161439 chr6 83921778 83921778 T A rs139619703 ME1 Synonymous SNV T528T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.018 161440 chr19 13059362 13059362 G A rs957261805 RAD23A Synonymous SNV T156T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.02 161441 chr6 90374303 90374303 A T MDN1 Nonsynonymous SNV D4713E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 161442 chr9 4118388 4118388 G A rs143056249 GLIS3 Nonsynonymous SNV P209S 0.003 0.003 0.007 5 3 1 0.013 2 0 0 0 0 Benign/Likely benign 0.001 161443 chr4 42400109 42400109 C T rs3103220 SHISA3 Synonymous SNV G12G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 16.02 161444 chr4 44450039 44450039 T A rs755122277 KCTD8 Nonsynonymous SNV N168Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 161445 chr5 39377190 39377190 G C rs766510417 DAB2 Nonsynonymous SNV P546A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.004 161446 chr7 100230737 100230737 C T TFR2 Nonsynonymous SNV V75M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 161447 chr5 79032641 79032641 G A rs62620747 CMYA5 Nonsynonymous SNV G2685S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.53 161448 chr19 38894241 38894241 C T rs944389770 FAM98C Synonymous SNV L86L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.53 161449 chr6 37614063 37614063 C T rs151307834 MDGA1 Nonsynonymous SNV R712H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 23.5 161450 chr19 16620786 16620786 C T rs142240474 C19orf44 Synonymous SNV Y542Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.827 161451 chr5 476734 476734 C T rs146547322 SLC9A3 Nonsynonymous SNV R596Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.8 161452 chr6 40360351 40360351 C T LRFN2 Synonymous SNV K567K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.785 161453 chr9 89700132 89700132 G C rs572124270 LOC494127 0 0 0.003 0 0 0 0 1 0 0 0 0 0.841 161454 chr19 17015110 17015110 C T rs372432362 CPAMD8 Nonsynonymous SNV V1393M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 161455 chr19 41038597 41038597 G A SPTBN4 Synonymous SNV K14K 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 11.73 161456 chr9 95276976 95276976 T A rs763693210 ECM2 Nonsynonymous SNV N309Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 161457 chr9 95526955 95526955 G C rs545512590 BICD2 Synonymous SNV A24A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.13 161458 chr4 5990505 5990505 C G rs112659630 C4orf50 Nonsynonymous SNV E911Q 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 23.1 161459 chr6 42603248 42603248 T C rs143339136 UBR2 Synonymous SNV H546H 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 2.006 161460 chr6 42689979 42689979 T C rs61755767 PRPH2 Nonsynonymous SNV I32V 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 not provided 0.016 161461 chr6 42713069 42713069 T G rs146027414 TBCC Nonsynonymous SNV D248A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.37 161462 chr19 44001983 44001983 G A rs186752767 PHLDB3 Nonsynonymous SNV R194C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.7 161463 chr6 43578364 43578364 G A rs781721312 POLH Nonsynonymous SNV R259H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 161464 chr4 66467521 66467521 C A EPHA5 Nonsynonymous SNV A250S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.86 161465 chrX 10085582 10085582 G A rs5934750 WWC3 Nonsynonymous SNV A495T 0.003 0.003 0.01 2 4 1 0.005 3 1 0 1 0 2.289 161466 chr6 43188966 43188966 G C CUL9 Nonsynonymous SNV S2220T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 161467 chrX 101911565 101911565 G T GPRASP1 Synonymous SNV G908G 0 0 0.007 0 0 0 0 2 0 0 1 0 7.837 161468 chr6 108395649 108395649 C A rs80219951 OSTM1 Synonymous SNV G69G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 15.24 161469 chr19 44352367 44352367 A G rs914694767 ZNF283 Synonymous SNV T399T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.45 161470 chrX 106358719 106358719 G A rs138528528 RBM41 Nonsynonymous SNV S129L 0 0 0.007 0 0 0 0 2 0 0 1 0 21.9 161471 chrX 109325434 109325434 C T rs182578558 MIR3978 0 0 0.031 0 0 0 0 9 0 0 2 0 3.6 161472 chr6 44254077 44254077 T G rs45591736 TCTE1 Nonsynonymous SNV E157A 0.006 0 0.003 0 7 0 0 1 0 0 0 0 27.6 161473 chr6 111588294 111588294 A G rs778837396 MFSD4B Nonsynonymous SNV E510G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.659 161474 chr22 50752296 50752296 C T rs377719391 DENND6B Nonsynonymous SNV A384T 0 0 0 3 0 0 0.008 0 0 0 0 0 8.841 161475 chr6 47650067 47650067 C G ADGRF2 Nonsynonymous SNV P591R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.638 161476 chr6 51720738 51720738 T C rs777859323 PKHD1 Nonsynonymous SNV T2622A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 161477 chr19 45856074 45856074 A G rs759116129 ERCC2 Nonsynonymous SNV V611A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 23.6 161478 chr19 22270958 22270958 T C ZNF257 Nonsynonymous SNV C60R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.297 161479 chr19 22270961 22270961 C T ZNF257 Synonymous SNV L61L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.789 161480 chr19 22270965 22270965 T C ZNF257 Nonsynonymous SNV I62T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.001 161481 chr6 123759213 123759213 T C TRDN Nonsynonymous SNV K350R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 161482 chr6 6145921 6145921 C T rs140537838 F13A1 Nonsynonymous SNV M710I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 161483 chr19 45998214 45998214 G A RTN2 Synonymous SNV F43F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.073 161484 chrX 15841231 15841236 AGCCGG - rs768273733 ZRSR2 S447_R448del 0 0 0 1 0 0 0.003 0 0 0 0 0 161485 chr7 105664827 105664827 C T rs777741458 CDHR3 Nonsynonymous SNV P605S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 161486 chr6 70639408 70639408 G A rs151153446 COL19A1 Nonsynonymous SNV R161Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 161487 chrX 37658230 37658230 G A rs374931542 CYBB Nonsynonymous SNV A233T 0.003 0 0 1 3 0 0.003 0 1 0 0 0 1.036 161488 chrX 50377970 50377970 C A SHROOM4 Nonsynonymous SNV G368V 0 0 0.007 0 0 0 0 2 0 0 1 0 14.93 161489 chrX 53439035 53439035 C T rs782132247 SMC1A Synonymous SNV L341L 0 0 0.007 0 0 0 0 2 0 0 1 0 13.05 161490 chrX 46951083 46951083 G A rs147490967 RGN Nonsynonymous SNV R118H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 161491 chr7 122526267 122526267 C T CADPS2 Nonsynonymous SNV R42Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 161492 chr19 35085231 35085231 G A rs757001262 SCGB2B2 Nonsynonymous SNV A32V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 161493 chr7 123149978 123149978 G A rs370340041 IQUB Nonsynonymous SNV S170F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.02 161494 chr4 87770173 87770173 G A rs556189080 SLC10A6 Synonymous SNV L32L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 7.285 161495 chrX 75649486 75649486 C G MAGEE1 Nonsynonymous SNV A388G 0.002 0 0.007 0 2 0 0 2 1 0 1 0 13.65 161496 chr10 101122098 101122098 A G CNNM1 Nonsynonymous SNV E658G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 161497 chr19 36302894 36302894 C T rs374984298 PRODH2 Synonymous SNV E265E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.61 161498 chr19 49573470 49573470 G A rs756018142 KCNA7 Synonymous SNV G407G 0 0 0 2 0 0 0.005 0 0 0 0 0 7.945 161499 chr6 151914338 151914338 C T rs201819308 CCDC170 Stop gain R464X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 42 161500 chrX 86888870 86888870 A T rs149752456 KLHL4 Synonymous SNV S557S 0.003 0.005 0 1 3 2 0.003 0 0 1 0 0 3.502 161501 chr19 49842010 49842010 G C rs775162414 CD37 Synonymous SNV L99L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.229 161502 chr10 102743493 102743493 C T rs149052530 SEMA4G Nonsynonymous SNV R713C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 161503 chr10 102743737 102743737 G A MRPL43, SEMA4G Nonsynonymous SNV P187L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 161504 chr19 36583692 36583692 A G rs61747277 WDR62 Nonsynonymous SNV K771R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 0.003 161505 chr6 152674524 152674524 T C rs149260051 SYNE1 Synonymous SNV E3694E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.094 161506 chr19 36592569 36592569 C T rs74518295 WDR62 Nonsynonymous SNV S992L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 23 161507 chr19 36612481 36612481 G A rs2231575 TBCB Synonymous SNV E136E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.34 161508 chr7 100184272 100184272 G C FBXO24 Nonsynonymous SNV L8F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.15 161509 chr19 36832050 36832050 T C rs75094162 ZFP14 Synonymous SNV K227K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.08 161510 chr5 111500730 111500730 G A rs184684511 EPB41L4A Nonsynonymous SNV T673I 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 19.62 161511 chr10 105236064 105236064 C T rs199912946 CALHM3 Nonsynonymous SNV R177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 161512 chr6 108243115 108243115 - GGGG rs142388422 SEC63 0.002 0.003 0 0 2 1 0 0 0 0 0 0 161513 chr7 138732352 138732352 G A rs148750088 ZC3HAV1 Synonymous SNV C1021C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.29 161514 chr19 38851210 38851210 C T rs200137453 CATSPERG Synonymous SNV L524L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 2.571 161515 chr5 127599260 127599260 C T rs138044126 FBN2 Synonymous SNV G2683G 0.008 0.021 0 1 9 8 0.003 0 0 0 0 0 Benign/Likely benign 8.542 161516 chr19 39340561 39340561 G A rs79124306 HNRNPL Synonymous SNV L16L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 10.57 161517 chr19 39694577 39694577 G T rs61641657 SYCN Synonymous SNV G106G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.123 161518 chr19 39805410 39805410 G A rs190901581 LRFN1 Synonymous SNV N189N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.43 161519 chr19 39915958 39915958 A G rs56845315 PLEKHG2 Nonsynonymous SNV K1218R 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 5.684 161520 chr6 168720303 168720303 G A rs1006441345 DACT2 Nonsynonymous SNV P4L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 161521 chr10 123842457 123842457 G T TACC2 Stop gain G148X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 161522 chr4 2659543 2659543 C A rs34435530 FAM193A Nonsynonymous SNV T151N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 161523 chr4 2661707 2661707 C T rs61731403 FAM193A Synonymous SNV S266S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.45 161524 chr4 2673892 2673892 G A rs17164082 FAM193A Synonymous SNV Q417Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 8.658 161525 chr4 2673912 2673912 C A rs145745319 FAM193A Nonsynonymous SNV P424Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 161526 chr10 124914521 124914521 C T rs745790273 BUB3 Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 161527 chr4 2702193 2702193 C T rs113844274 FAM193A Synonymous SNV L1141L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.38 161528 chr19 41284188 41284188 G T rs116196678 RAB4B-EGLN2 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 161529 chr10 125506329 125506329 G A rs62640887 CPXM2 Nonsynonymous SNV P741L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.4 161530 chr4 2757775 2757775 T C rs201975749 TNIP2 Nonsynonymous SNV Q81R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 161531 chr4 2877687 2877687 G T rs140936293 ADD1 Synonymous SNV P15P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 12.86 161532 chr4 2900006 2900006 T C rs144809220 ADD1 Synonymous SNV D279D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 2.927 161533 chr4 2906523 2906523 T A rs138254700 ADD1 Synonymous SNV P398P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 10.13 161534 chr4 2906691 2906691 C T rs142830875 ADD1 Synonymous SNV D454D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 12.85 161535 chr10 126715298 126715298 C T rs148643707 CTBP2 Nonsynonymous SNV R344H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 32 161536 chr10 101117351 101117351 G A rs148043245 CNNM1 Synonymous SNV T552T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.6 161537 chr4 2941327 2941327 G A rs149423815 NOP14 Nonsynonymous SNV L749F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.91 161538 chr19 41928605 41928605 G A rs760651615 BCKDHA Nonsynonymous SNV A309T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 161539 chr4 2949274 2949274 G C rs144621452 NOP14 Nonsynonymous SNV T493R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.853 161540 chr10 128147968 128147968 A G rs59940398 LOC728158 0 0 0.003 0 0 0 0 1 0 0 0 0 2.452 161541 chr10 101591776 101591776 T C rs907087501 ABCC2 Nonsynonymous SNV F1049S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.008 161542 chr4 2952883 2952883 G A rs144659943 NOP14 Synonymous SNV G320G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.74 161543 chr4 2955271 2955271 C T rs144870035 NOP14 Synonymous SNV K238K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.15 161544 chr10 101643861 101643861 A T rs567734686 DNMBP Nonsynonymous SNV L934M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 161545 chr4 2990546 2990546 A G rs142548315 GRK4 Nonsynonymous SNV I49V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.059 161546 chr7 156742868 156742868 C A rs199647631 NOM1 Nonsynonymous SNV P146Q 0.003 0 0 0 4 0 0 0 0 0 0 0 13.57 161547 chr19 42260848 42260848 C T rs61736637 CEACAM6 Synonymous SNV T135T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.96 161548 chr10 102796962 102796962 T C rs139685753 SFXN3 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.5 161549 chr10 131565242 131565242 C T rs757562187 MGMT Nonsynonymous SNV P202L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.947 161550 chr10 102891649 102891649 - GGCAGCAGCGGCGGT TLX1 G122_A123insGSSGG 0.001 0 0 0 1 0 0 0 0 0 0 0 161551 chr19 42795097 42795097 G T CIC Nonsynonymous SNV S726I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 161552 chr19 53762240 53762240 A T rs757289820 VN1R2 Nonsynonymous SNV K204N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 161553 chr19 44038607 44038607 G A rs763397896 ZNF575 Synonymous SNV G11G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.904 161554 chr19 44096214 44096214 A T rs772862113 IRGQ Synonymous SNV A612A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 161555 chr6 147635080 147635080 C T rs201944718 STXBP5 Synonymous SNV C402C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 15.02 161556 chr7 107314747 107314747 G C rs542620119 SLC26A4 Nonsynonymous SNV R185T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 161557 chr19 54652444 54652444 C G rs781143246 CNOT3 Nonsynonymous SNV P458A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 161558 chr10 134981777 134981777 C T rs79557483 KNDC1 Synonymous SNV F107F 0.002 0 0.01 0 2 0 0 3 0 0 0 0 11 161559 chr10 135020707 135020707 G A rs140585873 KNDC1 Nonsynonymous SNV A1216T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.04 161560 chr7 100850982 100850982 G A rs143644932 PLOD3 Synonymous SNV Y604Y 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 Likely benign 10.92 161561 chr10 135083913 135083913 C A rs150014036 ADAM8 Nonsynonymous SNV G540V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 2.84 161562 chr7 23213794 23213794 C T rs202172968 KLHL7 Synonymous SNV L546L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.8 161563 chr7 115897406 115897406 A G rs201714316 TES Nonsynonymous SNV N379S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.38 161564 chr7 105738195 105738195 G A rs201681435 SYPL1 Nonsynonymous SNV L115F 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 161565 chr10 115661445 115661445 G T NHLRC2 Nonsynonymous SNV C387F 0.003 0 0 0 4 0 0 0 0 0 0 0 31 161566 chr7 28534525 28534525 G A rs765299339 CREB5 Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 161567 chr10 116046161 116046161 G A VWA2 Synonymous SNV L487L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.23 161568 chr6 154735496 154735496 T C rs41292910 CNKSR3 Nonsynonymous SNV K161R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.731 161569 chr19 45206689 45206689 C T rs201786853 CEACAM16 Synonymous SNV N36N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.03 161570 chr19 55858411 55858411 C A rs200852152 KMT5C Nonsynonymous SNV P328H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.77 161571 chr7 116955207 116955207 C T rs200665306 WNT2 Nonsynonymous SNV R169H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 161572 chr10 120789629 120789629 G A rs556217592 NANOS1 Nonsynonymous SNV D106N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.53 161573 chr10 24884922 24884922 A C ARHGAP21 Synonymous SNV G963G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.987 161574 chr19 56029201 56029201 C T rs74585733 SSC5D Synonymous SNV H1186H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.988 161575 chr19 46998630 46998630 C T PNMA8B Synonymous SNV E31E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.882 161576 chr7 126882990 126882990 G C rs199857118 GRM8 Nonsynonymous SNV P90R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 161577 chr19 48306216 48306221 CGCGGC - rs554429070 TPRX1 R16_A18delinsP 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 161578 chr7 137792211 137792211 T G AKR1D1 Nonsynonymous SNV L206W 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 161579 chr7 47454769 47454769 G A rs771156730 TNS3 Nonsynonymous SNV S170L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 161580 chr7 141478295 141478295 C T rs368599194 TAS2R4 Nonsynonymous SNV R3W 0.002 0 0 0 2 0 0 0 0 0 0 0 7.708 161581 chr6 41764427 41764427 A G rs1027519930 USP49 Synonymous SNV N637N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 161582 chr6 42978637 42978637 C G rs767996020 PPP2R5D Nonsynonymous SNV P419A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 161583 chr7 4874558 4874558 C T rs532517293 RADIL Nonsynonymous SNV A366T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.408 161584 chr6 26017702 26017702 T G rs373995968 H1-1 Nonsynonymous SNV I87L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.667 161585 chr10 50732330 50732330 C T rs4253045 ERCC6 Synonymous SNV E382E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.13 161586 chr7 142991723 142991723 G T CASP2 Nonsynonymous SNV A171S 0.002 0 0 0 2 0 0 0 0 0 0 0 31 161587 chr10 50873067 50873067 G A rs114719193 CHAT Nonsynonymous SNV R623K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.873 161588 chr6 26184317 26184317 C T rs146191676 HIST1H2BE Synonymous SNV A98A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.19 161589 chr19 51207700 51207700 G A rs147548184 SHANK1 Synonymous SNV P383P 0.009 0.01 0.007 3 11 4 0.008 2 0 0 0 0 10.6 161590 chr10 25313837 25313837 C T rs774998745 THNSL1 Nonsynonymous SNV P562L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 161591 chr10 6263397 6263397 C T rs372042331 PFKFB3 Synonymous SNV R275R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 161592 chr20 2820534 2820534 C T rs371965645 PCED1A Nonsynonymous SNV E9K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.53 161593 chr6 5404922 5404922 C G FARS2 Nonsynonymous SNV L254V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 161594 chr7 73774558 73774558 C T rs533430096 CLIP2 Synonymous SNV S423S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 161595 chr6 54191648 54191648 T C rs140652001 TINAG Synonymous SNV D186D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.626 161596 chr4 864596 864596 C T rs144509628 GAK Synonymous SNV R638R 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 6.758 161597 chr19 52217232 52217232 G A rs144335002 HAS1 Synonymous SNV H394H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.39 161598 chr6 66205134 66205134 C T EYS Nonsynonymous SNV C57Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 161599 chr10 31608197 31608197 C T ZEB1 Stop gain Q12X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 161600 chr19 52327441 52327441 C T rs61736493 FPR3 Nonsynonymous SNV T147M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.662 161601 chr19 52393988 52393988 G A rs144803970 ZNF649 Synonymous SNV S467S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.985 161602 chr7 77708286 77708286 G A rs758993525 MAGI2 Synonymous SNV G1214G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 161603 chr6 35208158 35208158 C T rs139193521 SCUBE3 Synonymous SNV D319D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.66 161604 chr10 72604246 72604246 A G rs188194665 SGPL1 Nonsynonymous SNV Y15C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 161605 chr19 52825749 52825749 C T rs145965329 ZNF480 Stop gain R373X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 161606 chr7 156480878 156480878 A T rs376730383 LMBR1 Synonymous SNV T411T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.972 161607 chr5 180661426 180661426 C A TRIM41 Nonsynonymous SNV P515H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.05 161608 chr7 91724447 91724447 A G rs192845338 AKAP9 Nonsynonymous SNV K3230R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.059 161609 chr10 75567727 75567727 A G rs139597943 NDST2 Synonymous SNV Y140Y 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.022 161610 chr19 53652506 53652506 G C rs374232143 ZNF347 Nonsynonymous SNV L44V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 161611 chr10 76863729 76863729 C T rs781291174 DUSP13 Nonsynonymous SNV G36S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.157 161612 chr20 21492667 21492667 G A rs763717571 NKX2-2 Nonsynonymous SNV A239V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.1 161613 chr7 20683239 20683239 C T rs530929710 ABCB5 Nonsynonymous SNV A221V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 161614 chr5 109976635 109976635 A T TMEM232 Synonymous SNV T100T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 161615 chr6 89808527 89808527 G T SRSF12 Nonsynonymous SNV Q186K 0.003 0 0 0 4 0 0 0 0 0 0 0 13.52 161616 chr10 8100538 8100538 G C GATA3 Nonsynonymous SNV G171A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.091 161617 chr10 81927002 81927002 C T rs147610631 ANXA11 Nonsynonymous SNV R210Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 161618 chr20 30556082 30556082 C T rs6061066 XKR7 Nonsynonymous SNV A35V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.698 161619 chr7 2311589 2311589 C T rs557142514 SNX8 Nonsynonymous SNV E146K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 161620 chr7 100187367 100187367 G A rs760865107 FBXO24 Nonsynonymous SNV R35Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 161621 chr8 104778752 104778752 A G rs188770151 RIMS2 Nonsynonymous SNV I229V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.433 161622 chr10 61830597 61830597 T C rs146213267 ANK3 Nonsynonymous SNV K3348E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 161623 chr10 99219884 99219884 C T rs756307565 MMS19 Nonsynonymous SNV E761K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27 161624 chr5 132534965 132534965 G A rs143403129 FSTL4 Nonsynonymous SNV P784L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.446 161625 chr10 99358871 99358871 C T rs764666430 HOGA1 Synonymous SNV T122T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 161626 chr5 134782554 134782554 C T rs377125441 DCANP1 Nonsynonymous SNV R82Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.22 161627 chr5 54674967 54674967 G A rs144065455 MTREX Nonsynonymous SNV G666R 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.3 161628 chr7 4153892 4153892 G A rs376608111 SDK1 Nonsynonymous SNV R1270Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 161629 chr20 42788855 42788855 G C rs554853074 JPH2 Nonsynonymous SNV P191R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.393 161630 chr7 4259890 4259890 G A rs142632659 SDK1 Nonsynonymous SNV G384R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 161631 chr6 56485160 56485160 G A rs763921292 DST Synonymous SNV A1224A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 12.4 161632 chr20 43532662 43532662 A G rs151038182 YWHAB Nonsynonymous SNV N110S 0.003 0.01 0.003 2 3 4 0.005 1 0 0 0 0 12.39 161633 chr8 121824032 121824032 C T SNTB1 Nonsynonymous SNV G18S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 161634 chr10 72292806 72292806 G A rs749278605 PALD1 Nonsynonymous SNV A284T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 161635 chr20 44526676 44526676 G A rs41282776 CTSA Synonymous SNV K430K 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 Benign/Likely benign 13.22 161636 chr8 12595648 12595648 T C rs762452688 LONRF1 Synonymous SNV L323L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.97 161637 chr7 48080988 48080988 C T rs749636603 C7orf57 Nonsynonymous SNV A38V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.36 161638 chr20 48500388 48500388 C T rs112171239 SLC9A8 Nonsynonymous SNV R442W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 161639 chr7 100648211 100648211 C T MUC12 Synonymous SNV G4789G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.654 161640 chr11 102661164 102661164 C T rs117105447 MMP1 Stop gain W397X 0 0 0.003 0 0 0 0 1 0 0 0 0 49 161641 chr19 58988661 58988661 C T rs530358065 ZNF446 Nonsynonymous SNV R26C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 161642 chr11 103326007 103326007 C T rs767920377 DYNC2H1 Nonsynonymous SNV R4184C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 161643 chr11 104869611 104869611 C T rs141481245 CASP5 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 161644 chr7 5540601 5540601 G A rs991691605 FBXL18 Synonymous SNV D433D 0.004 0 0 0 5 0 0 0 0 0 0 0 0.005 161645 chr5 80626286 80626286 A G rs536125060 ACOT12 Nonsynonymous SNV I532T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 161646 chr11 111956132 111956132 G A rs751310234 TIMM8B Nonsynonymous SNV R47C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 161647 chr8 144695922 144695922 G A rs775618049 TSTA3 Synonymous SNV S249S 0.004 0.003 0 1 5 1 0.003 0 1 0 0 0 11.61 161648 chr5 145838647 145838647 - CAGGCCCAGGCC TCERG1 Q242_V243insAQAQ 0 0 0 1 0 0 0.003 0 0 0 0 0 161649 chr10 98192688 98192688 G A rs756457293 TLL2 Synonymous SNV S132S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.679 161650 chr10 98742634 98742634 G T rs745516551 LCOR Nonsynonymous SNV G806V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.87 161651 chr20 60912682 60912682 A G rs755114881 LAMA5 Nonsynonymous SNV C710R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.2 161652 chr7 75191424 75191424 A G HIP1 Synonymous SNV S357S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.922 161653 chr20 60987777 60987777 C T rs148210336 RBBP8NL Synonymous SNV T593T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.721 161654 chr10 99229412 99229412 G T rs146648604 MMS19 Synonymous SNV I262I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.17 161655 chr20 61048594 61048594 C T rs781885402 GATA5 Synonymous SNV E188E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.8 161656 chr7 73929710 73929710 C T GTF2IRD1 Nonsynonymous SNV L101F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.543 161657 chr7 123593793 123593793 A C SPAM1 Nonsynonymous SNV S57R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 161658 chr7 75614140 75614140 G A rs374406028 POR Nonsynonymous SNV R371H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 161659 chr11 117389402 117389402 G A rs749440763 DSCAML1 Nonsynonymous SNV A430V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 161660 chr8 145057230 145057230 G A rs141244035 PARP10 Nonsynonymous SNV A821V 0.004 0 0 1 5 0 0.003 0 1 0 0 0 10.13 161661 chr7 77006214 77006214 C A rs370761441 GSAP Nonsynonymous SNV S16I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 161662 chr11 118422526 118422526 G A rs146758400 IFT46 Nonsynonymous SNV P216L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 161663 chr7 128843277 128843277 C T rs45571737 SMO Synonymous SNV A128A 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 17.56 161664 chr11 118959361 118959361 C T rs974712040 HMBS Nonsynonymous SNV T35M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 34 161665 chr8 145584515 145584515 C T rs782396304 SLC52A2 Nonsynonymous SNV A393V 0.003 0 0 1 4 0 0.003 0 1 0 0 0 Uncertain significance 6.726 161666 chr7 130024416 130024416 T C CPA1 Nonsynonymous SNV S246P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 161667 chr20 62378501 62378501 C T rs148555106 ZBTB46 Nonsynonymous SNV G518R 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 14.84 161668 chr7 131825531 131825531 C T rs192307159 PLXNA4 Synonymous SNV P1755P 0.005 0 0 0 6 0 0 0 0 0 0 0 17.15 161669 chr7 94039739 94039739 C T COL1A2 Nonsynonymous SNV A366V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.7 161670 chr8 16850813 16850813 G C rs200152641 FGF20 Nonsynonymous SNV S135C 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 161671 chr11 121393659 121393659 C T rs200411965 SORL1 Synonymous SNV N519N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 161672 chr8 17412140 17412140 G C rs1134975 SLC7A2 Nonsynonymous SNV C376S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.22 161673 chr7 99997420 99997420 G A rs201973358 PILRA Nonsynonymous SNV V195I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.062 161674 chr8 100861110 100861110 C T rs138127778 VPS13B Nonsynonymous SNV T3375I 0.011 0.01 0.017 3 13 4 0.008 5 0 0 0 0 Conflicting interpretations of pathogenicity 10.62 161675 chr8 100904241 100904241 G A rs11555138 COX6C Synonymous SNV P3P 0.011 0.013 0.017 3 13 5 0.008 5 0 0 0 0 8.532 161676 chr7 104766732 104766732 T C rs1050419 SRPK2 Synonymous SNV L615L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Likely benign 1.359 161677 chr7 105148683 105148683 A G rs139058270 PUS7 Nonsynonymous SNV C93R 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 0.537 161678 chr6 117215200 117215200 C G RFX6 Nonsynonymous SNV S206C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 161679 chr7 143827134 143827134 C T rs192624937 OR2A14 Nonsynonymous SNV T310M 0.005 0 0 2 6 0 0.005 0 0 0 0 0 18.07 161680 chr11 125821952 125821952 C - rs550317548 VSIG10L2 C494Afs*102 0 0 0.007 0 0 0 0 2 0 0 0 0 161681 chr11 125821954 125821954 G T rs574399345 VSIG10L2 Nonsynonymous SNV C494F 0 0 0.007 0 0 0 0 2 0 0 0 0 11.52 161682 chr11 125821955 125821955 C A rs540149681 VSIG10L2 Stop gain C494X 0 0 0.007 0 0 0 0 2 0 0 0 0 12.49 161683 chr7 148768291 148768291 G A rs372708682 ZNF786 Nonsynonymous SNV R525C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 28.3 161684 chr8 26248904 26248904 A T rs142587794 BNIP3L Synonymous SNV S42S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.981 161685 chr7 149519723 149519723 C G rs539113436 SSPO 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.75 161686 chr11 1090810 1090810 C T rs200335355 MUC2 Synonymous SNV G1235G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.957 161687 chr8 124382201 124382203 TCT - rs776517941 ATAD2 E263del 0.001 0 0 0 1 0 0 0 0 0 0 0 161688 chr11 110451140 110451140 G A rs767917810 ARHGAP20 Nonsynonymous SNV R821C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 161689 chr11 17544759 17544759 G C rs200322793 USH1C Nonsynonymous SNV A292G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 161690 chr11 17631488 17631488 G T rs764159927 OTOG Nonsynonymous SNV E1559D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.017 161691 chr11 113144585 113144585 A T NCAM1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.511 161692 chr7 128486824 128486824 C T rs202125701 FLNC Synonymous SNV L1385L 0.009 0 0 6 11 0 0.015 0 0 0 0 0 Likely benign 14.44 161693 chr7 151859523 151859523 G A rs140482040 KMT2C Synonymous SNV A3713A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 10.37 161694 chr8 12957371 12957371 G A rs986337298 DLC1 Synonymous SNV G314G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.009 161695 chr11 11374072 11374072 C T rs750849569 CSNK2A3 Nonsynonymous SNV G199S 0.005 0.003 0 6 6 1 0.015 0 0 0 0 0 22.1 161696 chr21 46117840 46117840 C T rs199871554 KRTAP10-12 Nonsynonymous SNV R242C 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 23.2 161697 chr7 156979662 156979662 C T rs58522767 UBE3C Synonymous SNV A426A 0.007 0 0.007 0 8 0 0 2 0 0 0 0 12.06 161698 chr7 138329565 138329565 T C rs780476507 SVOPL Nonsynonymous SNV N77S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 161699 chr7 138764831 138764831 C G rs748210844 ZC3HAV1 Nonsynonymous SNV E286Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.6 161700 chr8 67817462 67817462 G A rs201352762 MCMDC2 Nonsynonymous SNV V591I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.792 161701 chr20 56137166 56137166 C T rs144697339 PCK1 Synonymous SNV I88I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 161702 chr11 26586855 26586855 A G rs2292290 MUC15 Nonsynonymous SNV I184T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.016 161703 chr20 56735761 56735761 C T rs61749694 C20orf85 Synonymous SNV I99I 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 20.3 161704 chr7 141866010 141866010 C T MGAM2 Nonsynonymous SNV T922I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.734 161705 chr7 142479937 142479937 G A rs60045625 PRSS3P2 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 161706 chr8 143356169 143356169 C T rs199512119 TSNARE1 Synonymous SNV Q254Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.228 161707 chr22 18022557 18022557 C G rs757433754 CECR2 Nonsynonymous SNV H746D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.28 161708 chr7 21892164 21892164 C T rs150631721 DNAH11 Nonsynonymous SNV A3659V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 161709 chr11 122827214 122827214 T C rs145643640 JHY Nonsynonymous SNV L609P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 161710 chr5 5191844 5191844 G A rs367971660 ADAMTS16 Synonymous SNV T418T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.55 161711 chr11 31123752 31123752 T C rs183555899 DCDC1 Nonsynonymous SNV D652G 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 25 161712 chr7 143055945 143055945 G A rs183061741 FAM131B Synonymous SNV G53G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.4 161713 chr11 32635079 32635079 A C rs183956425 CCDC73 Nonsynonymous SNV S929A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.687 161714 chr11 33308289 33308289 G A rs144907072 HIPK3 Nonsynonymous SNV G110E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 161715 chr5 64468715 64468715 G A rs769190743 ADAMTS6 Nonsynonymous SNV R1011C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 161716 chr22 22842154 22842154 T C rs149313729 ZNF280B Nonsynonymous SNV T524A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.003 161717 chr11 403749 403749 C T rs116633466 PKP3 Synonymous SNV N685N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.962 161718 chr7 150730966 150730966 C G rs117793104 ABCB8 Nonsynonymous SNV L124V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 23.6 161719 chr9 111663805 111663805 C T rs142096497 ELP1 Synonymous SNV A289A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 15.68 161720 chr20 62421552 62421552 C T rs759577508 ZBTB46 Nonsynonymous SNV A187T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.1 161721 chr11 47260392 47260392 C T DDB2 Nonsynonymous SNV R237W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 161722 chr7 156745224 156745224 G A rs59371845 NOM1 Synonymous SNV E349E 0.003 0 0 0 3 0 0 0 0 0 0 0 3.4 161723 chr8 145741413 145741413 C A RECQL4 Nonsynonymous SNV V364L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 161724 chr7 45002413 45002413 C G rs776693838 MYO1G Nonsynonymous SNV E994D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 161725 chr11 128680535 128680535 G C FLI1 Synonymous SNV R144R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.008 161726 chr11 130286112 130286112 G A ADAMTS8 Nonsynonymous SNV P404S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.9 161727 chr11 18048054 18048054 G A rs766209804 TPH1 Synonymous SNV P262P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.462 161728 chr7 2558214 2558214 G T rs143245520 LFNG Synonymous SNV A9A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.741 161729 chr9 125552059 125552059 C T rs749460592 OR5C1 Nonsynonymous SNV T283I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 161730 chr9 127088699 127088699 C T rs369950028 NEK6 Nonsynonymous SNV R184C 0.003 0 0 0 3 0 0 0 0 0 0 0 29.8 161731 chr21 43496292 43496292 C T rs1537116 UMODL1 Synonymous SNV P85P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.063 161732 chr9 127999166 127999166 T C rs56136100 HSPA5 Nonsynonymous SNV E557G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 23.6 161733 chr6 35554808 35554808 C T rs199713807 FKBP5 Nonsynonymous SNV C251Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.91 161734 chr9 128725347 128725347 A G rs1058389 PBX3 Synonymous SNV G318G 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 2.919 161735 chr21 46271447 46271447 C T rs377595271 PTTG1IP Synonymous SNV P88P 0.003 0 0 0 3 0 0 0 0 0 0 0 5.025 161736 chr11 33776013 33776013 T A FBXO3 Nonsynonymous SNV M238L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 161737 chr8 37702347 37702347 C T BRF2 Synonymous SNV L307L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.166 161738 chr8 38148006 38148006 C T rs141622276 NSD3 Synonymous SNV K1035K 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 15.77 161739 chr11 3661064 3661064 G T rs751728239 ART5 Nonsynonymous SNV L199I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.3 161740 chr11 4154851 4154851 T C rs145770432 RRM1 Nonsynonymous SNV M317T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 161741 chr9 136004661 136004661 G A RALGDS Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.134 161742 chr11 45937108 45937108 C T rs751381531 PEX16 Nonsynonymous SNV R124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 161743 chr8 6372298 6372298 G A rs145141058 ANGPT2 Nonsynonymous SNV A259V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 21.4 161744 chr7 94053715 94053715 C T rs773819922 COL1A2 Nonsynonymous SNV S878L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 161745 chr22 50658409 50658412 GAGA - rs758638626 TUBGCP6 S1381Qfs*93 0 0 0 1 0 0 0.003 0 0 0 0 0 161746 chr8 67478420 67478420 T C rs771760461 MYBL1 Nonsynonymous SNV N670S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.014 161747 chr9 139244196 139244196 G A rs782139573 GPSM1 Nonsynonymous SNV R479Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 161748 chr22 50988122 50988122 G A rs765237082 KLHDC7B Nonsynonymous SNV M1150I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 161749 chr22 23524296 23524296 C T rs775817981 BCR Synonymous SNV P383P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.9 161750 chr6 1395031 1395031 C T rs61753348 FOXF2 Synonymous SNV S424S 0.012 0.01 0.014 5 14 4 0.013 4 0 0 0 0 15.05 161751 chr7 73152030 73152030 G A rs782786923 ABHD11 Synonymous SNV S108S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.59 161752 chr8 11637211 11637211 A C rs149163749 NEIL2 Nonsynonymous SNV E20D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.332 161753 chrX 44929077 44929077 C T rs2230018 KDM6A Nonsynonymous SNV T647M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 11.83 161754 chrX 48752688 48752688 G C rs781881556 TIMM17B Nonsynonymous SNV P75A 0.004 0.005 0 2 5 2 0.005 0 1 1 0 0 0.003 161755 chrX 48970676 48970676 G A GPKOW Synonymous SNV S438S 0.004 0.005 0 2 5 2 0.005 0 1 1 0 0 9.321 161756 chr7 8790662 8790662 G A rs750671511 NXPH1 Nonsynonymous SNV G27S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.84 161757 chr11 4843184 4843184 A G rs759547853 OR51F2 Nonsynonymous SNV H178R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 161758 chrX 49127109 49127109 C G PPP1R3F Synonymous SNV L259L 0.004 0.005 0 2 5 2 0.005 0 1 1 0 0 12.19 161759 chr11 617406 617406 - CGCCCT CDHR5 G633_A634insEG 0 0 0.007 0 0 0 0 2 0 0 0 0 161760 chrX 70360599 70360599 - CAGCAGCAA rs774751179 MED12 Q2076_Y2077insQQQ 0.004 0.003 0 5 5 1 0.013 0 1 0 0 2 161761 chr11 62284502 62284502 G A rs139479070 AHNAK Nonsynonymous SNV T5796M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.1 161762 chrX 73962262 73962262 C T rs749479992 NEXMIF Synonymous SNV K710K 0.007 0.003 0 5 8 1 0.013 0 2 0 0 2 Conflicting interpretations of pathogenicity 8.334 161763 chr8 133931723 133931723 C T rs146498231 TG Nonsynonymous SNV P1494L 0.011 0.003 0.003 0 13 1 0 1 0 0 0 0 Uncertain significance 25.6 161764 chr9 22447071 22447071 C T rs140509678 DMRTA1 Nonsynonymous SNV R3W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 27 161765 chrX 78427143 78427143 A G rs763162799 GPR174 Synonymous SNV Q213Q 0.007 0.003 0 5 8 1 0.013 0 2 0 0 2 0.057 161766 chr7 98630686 98630686 T C rs374358954 SMURF1 Synonymous SNV T687T 0.003 0 0 0 4 0 0 0 0 0 0 0 4.969 161767 chr9 311964 311964 G A rs369412510 DOCK8 Nonsynonymous SNV R112H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.2 161768 chr9 115962176 115962176 G C FKBP15 Nonsynonymous SNV A189G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.816 161769 chr9 34513143 34513143 T C rs148238282 DNAI1 Nonsynonymous SNV I512T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.2 161770 chr9 123936008 123936008 G A rs764334541 CNTRL Nonsynonymous SNV R1648Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 161771 chr11 64518016 64518016 G A rs113806080 PYGM Nonsynonymous SNV A582V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 34 161772 chr11 55798278 55798278 C T rs148523609 OR5AS1 Synonymous SNV N128N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.941 161773 chr6 21201497 21201497 T C rs574081083 CDKAL1 Synonymous SNV L514L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.832 161774 chr9 5921016 5921016 T A rs752478370 KIAA2026 Nonsynonymous SNV L1660F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.583 161775 chr22 41635555 41635555 C T rs8135399 CHADL Synonymous SNV R26R 0.012 0.005 0.01 0 14 2 0 3 0 0 0 0 10.27 161776 chr6 25661861 25661861 C T rs199795137 SCGN Nonsynonymous SNV R79W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.1 161777 chr22 42610345 42610345 G A rs775132778 TCF20 Nonsynonymous SNV H323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 161778 chr9 79234288 79234288 G A rs190592343 PRUNE2 Synonymous SNV Y332Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.567 161779 chr22 45221405 45221405 G A rs771172363 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV P176P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.368 161780 chrX 153049236 153049236 G A rs782639982 SRPK3 Synonymous SNV R267R 0.005 0 0 1 6 0 0.003 0 2 0 0 0 10.39 161781 chr11 6650771 6650771 G A rs201092449 DCHS1 Synonymous SNV S1691S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.693 161782 chr11 67372135 67372135 G C rs547534234 C11orf72 0 0 0.003 0 0 0 0 1 0 0 0 0 0.96 161783 chr8 125074092 125074092 G A rs746173939 FER1L6 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 161784 chr11 6741215 6741215 T C rs186636748 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 161785 chr11 67434057 67434057 C T rs1140670 ALDH3B2 Nonsynonymous SNV A47T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 161786 chr8 125990007 125990007 C T rs138696137 ZNF572 Synonymous SNV D499D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.541 161787 chr9 91994524 91994524 G A rs147086169 SEMA4D Nonsynonymous SNV R562W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 161788 chr11 68707180 68707180 G A IGHMBP2 Nonsynonymous SNV R988K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.27 161789 chr11 704552 704552 G T rs7942118 TMEM80 Nonsynonymous SNV G253V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.658 161790 chr11 57076642 57076642 C A rs140424909 TNKS1BP1 Synonymous SNV S1181S 0.003 0.003 0.014 0 4 1 0 4 0 0 0 0 14.29 161791 chr8 17613189 17613189 C A rs769417505 MTUS1 Nonsynonymous SNV S43I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 161792 chr8 17794810 17794810 C T rs34442566 PCM1 Synonymous SNV Y88Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.932 161793 chr1 2125098 2125098 G A FAAP20 Nonsynonymous SNV A105V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.474 161794 chr11 58170712 58170712 C T rs138976101 OR5B3 Nonsynonymous SNV M57I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 24.4 161795 chr8 142264793 142264793 C T rs527736345 LOC105375787 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.65 161796 chr11 75136602 75136602 C T rs143705265 KLHL35 Nonsynonymous SNV G404S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 28.1 161797 chr9 138516339 138516339 A G rs201640295 GLT6D1 Synonymous SNV D145D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.012 161798 chr1 3732008 3732008 G A rs148360595 CEP104 Synonymous SNV G912G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.722 161799 chr1 3745857 3745857 T C rs139817583 CEP104 Synonymous SNV A708A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.702 161800 chr8 22012092 22012092 G A rs180985526 LGI3 Synonymous SNV L111L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.12 161801 chr11 59244945 59244945 C T rs189900879 OR4D10 Nonsynonymous SNV L15F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.33 161802 chrX 17739621 17739621 A G rs917356758 NHS Nonsynonymous SNV I128V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.432 161803 chr9 135224734 135224734 C T SETX Nonsynonymous SNV G28S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.007 161804 chrX 23411683 23411683 A G PTCHD1 Nonsynonymous SNV N683S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 161805 chr1 7845528 7845528 T C PER3 Synonymous SNV S52S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.638 161806 chr8 144687948 144687948 C T PYCR3 Synonymous SNV E229E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.64 161807 chr1 7895884 7895884 G A PER3 Nonsynonymous SNV G1093R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.2 161808 chr9 136249663 136249663 C T rs141126243 STKLD1 Synonymous SNV Y66Y 0.003 0 0 0 4 0 0 0 0 0 0 0 8.313 161809 chr8 144877226 144877226 G A rs149307154 SCRIB Synonymous SNV S1276S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.078 161810 chr8 26227887 26227887 T C PPP2R2A Synonymous SNV A444A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.727 161811 chrX 135427231 135427231 - CTGCATCTACTCATGTTGGGA ADGRG4 S465_S466insTHVGTAS 0.001 0 0 0 1 0 0 0 0 0 0 0 161812 chr8 27319235 27319235 C T rs759930402 CHRNA2 Nonsynonymous SNV D501N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 32 161813 chrX 39923742 39923742 C T rs374493655 BCOR Nonsynonymous SNV A1099T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.018 161814 chr8 144993729 144993729 G A rs62642463 PLEC Synonymous SNV P3406P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.753 161815 chr8 27605624 27605629 ATTTCT - CCDC25 E105_M106del 0.001 0 0 0 1 0 0 0 0 0 0 0 161816 chr11 61643403 61643403 C T rs148184000 FADS3 Synonymous SNV P402P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 161817 chr1 11838859 11838859 G C C1orf167 Nonsynonymous SNV D828H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 161818 chrX 48673835 48673835 G A rs57333741 HDAC6 Synonymous SNV S398S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 161819 chr8 30703163 30703163 C T rs377401358 TEX15 Nonsynonymous SNV G1507E 0.005 0 0 0 6 0 0 0 0 0 0 0 4.583 161820 chrX 150842530 150842530 C T rs149869100 PASD1 Synonymous SNV L683L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.784 161821 chrX 151092942 151092942 G A rs151108304 MAGEA4 Nonsynonymous SNV R269H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.32 161822 chrX 152027361 152027361 G C rs781847194 NSDHL Synonymous SNV A105A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 161823 chrX 152662643 152662643 G A rs782134101 PNMA6E Synonymous SNV A555A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.278 161824 chrX 67943559 67943559 G A rs779351842 STARD8 Nonsynonymous SNV R884Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 161825 chr8 145622977 145622977 C T CPSF1 Nonsynonymous SNV G731S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.849 161826 chr11 95825204 95825206 TGC - rs149006316 MAML2 Q665del 0.003 0.003 0.014 1 4 1 0.003 4 1 0 0 0 161827 chr11 95825703 95825703 G A rs77608011 MAML2 Nonsynonymous SNV P498S 0.003 0.003 0.014 1 4 1 0.003 4 1 0 0 0 Benign 2.326 161828 chr11 95825941 95825941 G T rs58982358 MAML2 Synonymous SNV S418S 0.005 0.003 0.014 2 6 1 0.005 4 1 0 0 0 0.454 161829 chrX 70469395 70469395 G A rs202081383 ZMYM3 Synonymous SNV T462T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.396 161830 chr7 141920900 141920900 A T rs183564897 MGAM2 Nonsynonymous SNV S2197C 0.004 0.005 0 6 5 2 0.015 0 0 0 0 0 13.62 161831 chr7 141921183 141921183 C T rs375796226 MGAM2 Nonsynonymous SNV T2291I 0.004 0.005 0 6 5 2 0.015 0 0 0 0 0 11.21 161832 chrX 153585635 153585635 G A rs782571260 FLNA Synonymous SNV I1651I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 161833 chrX 153688749 153688749 C T rs199861985 PLXNA3 Nonsynonymous SNV R76C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 161834 chr7 142983772 142983772 A G TMEM139 Synonymous SNV G167G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.246 161835 chr11 64567635 64567635 G A rs370439271 MAP4K2 Synonymous SNV D287D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.47 161836 chr12 103248932 103248932 C T rs62516152 PAH Nonsynonymous SNV V230I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Likely pathogenic 22.7 161837 chr9 15474121 15474121 C T rs370771319 PSIP1 Synonymous SNV P248P 0.003 0 0 0 3 0 0 0 0 0 0 0 16.87 161838 chr9 35385751 35385751 C T rs201421861 UNC13B Nonsynonymous SNV L517F 0.002 0 0 0 2 0 0 0 0 0 0 0 31 161839 chrX 107439765 107439773 TCCCTTTTC - rs775824038 COL4A6 E291_G293del 0.001 0 0.007 0 1 0 0 2 0 0 1 0 161840 chrX 107814693 107814693 T C rs776235806 COL4A5 Synonymous SNV P145P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.145 161841 chr9 19341085 19341085 A G rs545983529 DENND4C Nonsynonymous SNV I944V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.921 161842 chr9 35715061 35715061 G A rs752337517 TLN1 Synonymous SNV L917L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.33 161843 chr12 108090300 108090300 G A rs896701863 PWP1 Synonymous SNV L122L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 161844 chr7 149575824 149575824 T G ATP6V0E2 Nonsynonymous SNV N119K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 161845 chrX 49033272 49033272 G A PRICKLE3 Nonsynonymous SNV T344I 0.004 0 0 0 5 0 0 0 1 0 0 0 11.53 161846 chr9 5231710 5231710 C T rs188521238 INSL4 Nonsynonymous SNV R63C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 161847 chr11 66460511 66460511 C T rs138405793 SPTBN2 Nonsynonymous SNV D1639N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 161848 chr9 713231 713231 G C rs765871513 KANK1 Nonsynonymous SNV G664A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.63 161849 chr11 67206281 67206281 C T rs761297209 CORO1B Nonsynonymous SNV R402Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 161850 chr9 732380 732380 A G rs759067359 KANK1 Nonsynonymous SNV Y845C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.4 161851 chr9 77454973 77454973 C T rs150874152 TRPM6 Nonsynonymous SNV G166R 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 34 161852 chr8 2944637 2944637 G C rs537274542 CSMD1 Nonsynonymous SNV L2486V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.951 161853 chr9 4286285 4286285 C T rs201142941 GLIS3 Synonymous SNV S47S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 8.781 161854 chr12 117383298 117383298 C T rs200144890 FBXW8 Stop gain R119X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 161855 chr9 100617022 100617022 G A rs1036653031 FOXE1 Nonsynonymous SNV A276T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 161856 chrX 153036491 153036491 G A rs143787215 PLXNB3 Synonymous SNV E736E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.401 161857 chr9 5920479 5920479 G A rs757029506 KIAA2026 Synonymous SNV P1839P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.332 161858 chrX 153047239 153047239 G A rs35865042 SRPK3 Nonsynonymous SNV G114E 0.001 0 0.007 2 1 0 0.005 2 0 0 0 1 11.64 161859 chr7 1786468 1786468 C T rs757525002 ELFN1 Nonsynonymous SNV R746C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 34 161860 chrX 153736852 153736852 G A rs782073592 FAM3A Synonymous SNV S38S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.06 161861 chr1 29359747 29359747 G A rs146566071 EPB41 Nonsynonymous SNV R417Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 161862 chr8 41504178 41504178 C T rs201587344 NKX6-3 Synonymous SNV K66K 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 18.25 161863 chr10 101997838 101997838 G A CWF19L1 Stop gain R262X 0.002 0 0 4 2 0 0.01 0 0 0 0 0 39 161864 chr7 2289634 2289634 G A rs766618604 NUDT1 Nonsynonymous SNV D99N 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 24.6 161865 chr11 73105544 73105544 G A rs758853136 RELT Nonsynonymous SNV V271M 0.002 0 0 0 2 0 0 0 0 0 0 0 5.232 161866 chr7 23300250 23300250 T G rs146873412 GPNMB Nonsynonymous SNV F292L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 161867 chr12 122825299 122825299 C A rs144240398 CLIP1 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 161868 chr12 123057763 123057763 G C rs17883249 KNTC1 Nonsynonymous SNV E738D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 161869 chr12 123414665 123414665 C T rs781428831 ABCB9 Synonymous SNV A635A 0 0 0.003 0 0 0 0 1 0 0 0 0 20 161870 chr11 75277974 75277974 C A rs141721173 SERPINH1 Nonsynonymous SNV R194S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.5 161871 chr9 99003158 99003158 A G rs776757787 HSD17B3 Nonsynonymous SNV M235T 0.009 0 0 1 10 0 0.003 0 0 0 0 0 24.6 161872 chr9 84302322 84302322 A G rs751897001 TLE1 Nonsynonymous SNV F18L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 161873 chr12 12483282 12483282 G C rs373449442 MANSC1 Nonsynonymous SNV I325M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.808 161874 chr9 88967857 88967857 T A TUT7 Nonsynonymous SNV Q86H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.7 161875 chr10 111635307 111635307 A G XPNPEP1 Nonsynonymous SNV I343T 0.001 0 0 0 1 0 0 0 0 0 0 0 28 161876 chr7 30094368 30094368 A G rs779076462 PLEKHA8 Synonymous SNV K111K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.012 161877 chr9 96428007 96428007 C T rs373035320 PHF2 Synonymous SNV F659F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.47 161878 chr12 131466502 131466502 G A rs138627746 ADGRD1 Synonymous SNV Q128Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.648 161879 chr7 33138997 33138997 G A rs140893878 RP9 Nonsynonymous SNV H79Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.4 161880 chr10 118100268 118100268 C T rs117513116 CCDC172 Nonsynonymous SNV S63F 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 161881 chrX 100515570 100515570 G A rs746910173 DRP2 Nonsynonymous SNV R867Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 161882 chr12 13240162 13240162 G A rs141509089 GSG1 Stop gain Q137X 0.001 0 0.007 0 1 0 0 2 0 0 0 0 37 161883 chr11 85396271 85396271 C A rs146974066 CCDC89 Nonsynonymous SNV E301D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 161884 chr11 866627 866627 G A rs145137446 TSPAN4 Synonymous SNV A238A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.03 161885 chr11 86782642 86782642 T C rs754651757 TMEM135 Nonsynonymous SNV I116T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 161886 chr1 43903571 43903571 C A SZT2 Nonsynonymous SNV A2112E 0 0 0 1 0 0 0.003 0 0 0 0 0 32 161887 chr7 4285330 4285330 G A rs751632682 SDK1 Nonsynonymous SNV G579S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 26.5 161888 chr8 95800270 95800270 C A rs781019229 DPY19L4 Nonsynonymous SNV A666E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 161889 chr10 123662057 123662057 A G ATE1 Nonsynonymous SNV M125T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 161890 chr1 45973128 45973128 G A rs201777449 MMACHC Nonsynonymous SNV R4Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 7.769 161891 chr1 46089250 46089250 A G CCDC17 Synonymous SNV A83A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.196 161892 chr12 2038978 2038978 G A rs79802812 LINC00940 0 0 0.031 0 0 0 0 9 0 0 2 0 1.549 161893 chrX 124454923 124454923 G A TEX13C Nonsynonymous SNV G319S 0.003 0.003 0 0 4 1 0 0 1 0 0 0 4.506 161894 chrX 124455714 124455776 GGACAGCAACAGCCACAGTCTGAAGAAAGATCCAATGATGCACCAGGAGATGGTCCCCCTGGG - TEX13C M594_P614del 0.003 0.003 0 0 4 1 0 0 1 0 0 0 161895 chrX 150912535 150912535 C T rs776202472 CNGA2 Synonymous SNV G520G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.332 161896 chr10 127452028 127452028 A G rs371696015 EDRF1 Nonsynonymous SNV N1201S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 161897 chrX 151283893 151283893 G A rs138018950 MAGEA10-MAGEA5, MAGEA5 Synonymous SNV S40S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.215 161898 chr9 101552442 101552442 T C rs200902480 ANKS6 Nonsynonymous SNV K269R 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Uncertain significance 10.78 161899 chr9 1051727 1051727 C A rs750111594 DMRT2 Nonsynonymous SNV S38R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 161900 chr9 1051728 1051728 C T rs755785114 DMRT2 Nonsynonymous SNV P39S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.16 161901 chrX 153208365 153208365 G A rs142718878 RENBP Nonsynonymous SNV A210V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.506 161902 chr10 131665406 131665406 G C rs142165671 EBF3 Synonymous SNV T337T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.655 161903 chr10 13237127 13237127 C T MCM10 Nonsynonymous SNV S611F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 161904 chr12 100451503 100451503 G A UHRF1BP1L Synonymous SNV C1090C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 161905 chr9 130674671 130674671 C T rs372596153 ST6GALNAC4 Nonsynonymous SNV G79S 0.003 0 0 0 3 0 0 0 0 0 0 0 29.4 161906 chr12 346413 346413 C A SLC6A13 Nonsynonymous SNV A111S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.803 161907 chr1 54640318 54640318 T C rs61741274 CYB5RL Nonsynonymous SNV T229A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.342 161908 chr9 112899370 112899378 CAGCAGCAG - rs749737390 PALM2AKAP2 Q377_Q379del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 161909 chrX 152585601 152585618 CTCCTGCCTCACCTGCTG - rs781894163 PNMA6F A172_G177del 0.011 0 0 0 13 0 0 0 4 0 0 0 161910 chr9 113547129 113547129 G A rs750052542 MUSK Synonymous SNV V53V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.103 161911 chr7 56082840 56082840 G A rs374024099 PSPH Nonsynonymous SNV T149M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.627 161912 chr12 102813404 102813404 G A rs3730193 IGF1 Synonymous SNV C95C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Likely benign 8.439 161913 chr12 48107083 48107083 C T ENDOU Synonymous SNV S217S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 161914 chrX 153296195 153296195 G C rs782171742 MECP2 Nonsynonymous SNV P374A 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 6.099 161915 chrX 154194351 154194351 C T rs781889613 F8 Nonsynonymous SNV R446Q 0.003 0 0 0 4 0 0 0 1 0 0 0 24.7 161916 chr7 72857133 72857133 C T rs138650548 BAZ1B Nonsynonymous SNV R1339Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 35 161917 chr12 49436107 49436107 G A rs182887940 KMT2D Synonymous SNV R1958R 0.005 0.008 0.017 3 6 3 0.008 5 0 0 0 0 Benign 11.39 161918 chr1 63919616 63919619 CAAA - rs569350949 ITGB3BP F112Kfs*24 0 0 0 1 0 0 0.003 0 0 0 0 0 161919 chr9 119115167 119115167 G A rs55901693 PAPPA Nonsynonymous SNV V1383M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 31 161920 chrX 32509625 32509625 A C rs72468681 DMD Nonsynonymous SNV N789K 0.008 0 0.003 1 9 0 0.003 1 1 0 0 0 Benign/Likely benign 21.8 161921 chr12 110353218 110353218 G A rs149111537 TCHP Nonsynonymous SNV R444H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.8 161922 chr9 136198803 136198803 G A rs181910067 SURF6 Nonsynonymous SNV R330C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 32 161923 chr10 24922388 24922388 T C rs61758700 ARHGAP21 Nonsynonymous SNV N128S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.1 161924 chr12 52649182 52649182 C T KRT87P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.926 161925 chr1 76255644 76255644 C T rs563619939 RABGGTB Nonsynonymous SNV T106M 0 0 0 1 0 0 0.003 0 0 0 0 0 28 161926 chr10 23481726 23481726 C T PTF1A Synonymous SNV L89L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.92 161927 chr12 52779366 52779366 A T KRT84 Nonsynonymous SNV S2T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 161928 chr1 78326915 78326915 A C MIGA1 Nonsynonymous SNV K428Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 161929 chrX 84362401 84362401 C T rs141781891 SATL1 Nonsynonymous SNV S525N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.79 161930 chr1 84417642 84417642 G A rs200076199 TTLL7 Nonsynonymous SNV P15S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.549 161931 chr9 138590310 138590310 C T rs147567724 SOHLH1 Synonymous SNV S70S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign 12.53 161932 chrX 54949040 54949040 G A rs202140911 TRO Synonymous SNV G25G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.966 161933 chrX 55046766 55046766 G A rs772567693 ALAS2 Synonymous SNV A233A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.715 161934 chr9 138713336 138713336 C T rs369728322 CAMSAP1 Synonymous SNV V1057V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 7.896 161935 chr12 118828956 118828956 T G rs372566624 SUDS3 Nonsynonymous SNV I129S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.1 161936 chr10 103912209 103912209 G A rs116928523 NOLC1 Synonymous SNV L14L 0.003 0.01 0 3 3 4 0.008 0 0 1 0 0 Benign 13.41 161937 chr9 139329254 139329254 G C rs753742613 INPP5E Nonsynonymous SNV R292G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 27.4 161938 chr12 54686963 54686963 A G NFE2 Nonsynonymous SNV V106A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 161939 chr12 122012485 122012485 C T rs200568346 KDM2B Nonsynonymous SNV D91N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 161940 chr10 105205176 105205176 A G rs144121362 PDCD11 Nonsynonymous SNV K1829R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 161941 chr10 105361884 105361884 G A rs74661743 SH3PXD2A Nonsynonymous SNV R912C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 161942 chr12 123339495 123339495 C T rs137994880 HIP1R Synonymous SNV H254H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.38 161943 chr9 139927526 139927526 G A rs146351195 C9orf139 Nonsynonymous SNV R4Q 0.003 0 0 0 3 0 0 0 0 0 0 0 3.52 161944 chr12 124111689 124111689 G A rs146748240 EIF2B1 Synonymous SNV H128H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.102 161945 chr12 56708706 56708706 C T rs79111613 CNPY2 Nonsynonymous SNV V45M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 161946 chr9 140130522 140130522 G A rs138872455 SLC34A3 Nonsynonymous SNV R485H 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 32 161947 chr12 124968274 124968274 G A rs777360867 NCOR2 Synonymous SNV P93P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.011 161948 chr12 57939824 57939824 G A rs202087129 DCTN2 Nonsynonymous SNV A31V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.6 161949 chr12 126135380 126135380 T A rs778510378 TMEM132B Nonsynonymous SNV W106R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 161950 chr10 50255067 50255067 A G VSTM4 Synonymous SNV H266H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.293 161951 chr10 102824395 102824395 G A rs752131273 KAZALD1 Synonymous SNV V132V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.728 161952 chr10 104161221 104161221 C T rs11191279 NFKB2 Synonymous SNV L747L 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 5.726 161953 chr10 50732553 50732570 ACTGGGGCTGGAGGCGTG - rs765040780 ERCC6 T303_V308del 0.002 0 0 0 2 0 0 0 0 0 0 0 161954 chr9 18675897 18675897 C G rs61754855 ADAMTSL1 Synonymous SNV P376P 0.005 0 0 4 6 0 0.01 0 0 0 0 0 10.43 161955 chr10 5789361 5789361 C T rs564549297 TASOR2 Nonsynonymous SNV P1245L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 161956 chr12 70965725 70965725 G A rs998267638 PTPRB Synonymous SNV S687S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.633 161957 chr12 70965843 70965843 C T rs202070105 PTPRB Nonsynonymous SNV S648N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 161958 chr1 113239422 113239422 G A rs35168617 MOV10 Nonsynonymous SNV D718N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.14 161959 chr9 138392893 138392893 C T rs757108896 MRPS2 Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 161960 chr12 72425361 72425361 T C TPH2 Synonymous SNV S453S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.375 161961 chr10 68139081 68139081 A G CTNNA3 Nonsynonymous SNV C521R 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 161962 chr10 115985875 115985875 A G rs138115541 TDRD1 Synonymous SNV A1021A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.008 161963 chr12 1909582 1909582 G A rs201325274 CACNA2D4 Nonsynonymous SNV A964V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.621 161964 chr10 12866506 12866506 C T rs145937671 CAMK1D Synonymous SNV S292S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.83 161965 chr10 128974631 128974631 A G INSYN2A Nonsynonymous SNV I10T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.616 161966 chr10 129536936 129536936 C T rs757300840 FOXI2 Nonsynonymous SNV P222S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.67 161967 chr12 2778061 2778061 C G rs58893912 CACNA1C-AS2 0.006 0 0.003 0 7 0 0 1 0 0 0 0 3.872 161968 chr9 4827014 4827014 A G rs138474156 RCL1 Nonsynonymous SNV N122S 0.008 0 0 2 9 0 0.005 0 0 0 0 0 24 161969 chr10 73485206 73485206 C T rs199866703 CDH23 Nonsynonymous SNV R1170W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 161970 chr1 149859395 149859395 G C rs370401891 H2AC21 Synonymous SNV L24L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.606 161971 chr10 74890603 74890603 C T rs141533992 NUDT13 Nonsynonymous SNV S245F 0.003 0 0 0 3 0 0 0 0 0 0 0 24 161972 chr12 94648639 94648639 C T rs773151001 PLXNC1 Synonymous SNV S986S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 10.6 161973 chr12 46233234 46233234 G T ARID2 Nonsynonymous SNV A485S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 161974 chr10 134218642 134218642 G A rs746690563 PWWP2B Nonsynonymous SNV R213H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.2 161975 chr9 33917082 33917082 G A rs367750020 UBE2R2 Synonymous SNV A188A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.89 161976 chr9 842076 842076 A C rs370607838 DMRT1 Synonymous SNV R80R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.499 161977 chr10 18828543 18828548 CGCAGC - CACNB2 S571_R572del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 161978 chr13 111287047 111287047 C T rs137876156 NAXD Nonsynonymous SNV P82L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 161979 chr9 91150603 91150603 A T rs202115313 NXNL2 Nonsynonymous SNV E85V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 161980 chr1 154143941 154143941 T A rs748524330 TPM3 Nonsynonymous SNV E160V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 161981 chr1 154143942 154143942 C T rs770260750 TPM3 Nonsynonymous SNV E160K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 161982 chr8 144998796 144998796 C A rs782513203 PLEC Synonymous SNV L1753L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.55 161983 chr9 95227228 95227228 C T rs934558567 ASPN Nonsynonymous SNV E228K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 27.5 161984 chr9 35906601 35906601 - CACCACCACCCCTCACCACCTCCACCACCACCACCACCACCA HRCT1 P106_H107insTTTPHHLHHHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 161985 chr1 154995887 154995887 G A rs367722659 DCST2 Synonymous SNV S639S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.91 161986 chr13 19751349 19751349 G A rs570913906 TUBA3C Synonymous SNV N258N 0 0 0.01 0 0 0 0 3 0 0 0 0 1.845 161987 chr1 156255585 156255585 G A rs370647770 TMEM79 Nonsynonymous SNV G190R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.96 161988 chr10 98762470 98762470 T C rs768287574 SLIT1 Nonsynonymous SNV H1382R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.126 161989 chrX 100745888 100745888 A C ARMCX4 Nonsynonymous SNV N771T 0.003 0 0 1 3 0 0.003 0 1 0 0 0 21.3 161990 chr10 29839780 29839780 G A rs200054252 SVIL Synonymous SNV D191D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.818 161991 chr9 5969382 5969382 T G KIAA2026 Nonsynonymous SNV E283D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 161992 chr10 30629303 30629303 G A rs771402747 MTPAP Nonsynonymous SNV T136M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 161993 chr13 29005345 29005345 T C rs762663070 FLT1 Nonsynonymous SNV K306E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 161994 chr9 74971923 74971923 A T rs759485299 ZFAND5 Nonsynonymous SNV S139R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.82 161995 chr13 32776604 32776604 G A rs138780336 FRY Nonsynonymous SNV A1320T 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 Benign 0.026 161996 chr9 78938010 78938010 A G rs370595968 PCSK5 Nonsynonymous SNV Q1355R 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 2.256 161997 chr10 43608351 43608351 G A rs147219360 RET Nonsynonymous SNV D313N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 161998 chr13 36903536 36903536 T C rs368305530 SPART Nonsynonymous SNV N376S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 161999 chr9 79323348 79323348 G A rs41310047 PRUNE2 Nonsynonymous SNV S1281F 0.004 0.008 0.003 5 5 3 0.013 1 0 0 0 0 23.2 162000 chr12 53004595 53004595 C T rs376902742 KRT73 Nonsynonymous SNV A379T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 162001 chr10 3183859 3183859 - AC PITRM1-AS1 0.004 0.003 0 0 5 1 0 0 0 0 0 0 162002 chr12 53225362 53225362 G A KRT79 Synonymous SNV L176L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 162003 chr13 43566137 43566137 G A rs41288323 EPSTI1 Synonymous SNV S55S 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 11.55 162004 chr1 159907619 159907619 C T rs144339370 IGSF9 Nonsynonymous SNV R86Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.9 162005 chr10 47087309 47087309 G C rs782527768 NPY4R, NPY4R2 Nonsynonymous SNV A176P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.1 162006 chr12 53344632 53344632 A G rs146788536 KRT18 Nonsynonymous SNV E200G 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 32 162007 chr10 372967 372967 C G rs766041048 DIP2C Synonymous SNV V1301V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 162008 chr13 50123625 50123625 A G rs62637574 RCBTB1 Synonymous SNV T338T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.304 162009 chr10 50098662 50098662 C T rs146021054 WDFY4 Synonymous SNV H2402H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.55 162010 chr13 52730233 52730233 T C rs369639465 NEK3 Nonsynonymous SNV M32V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 162011 chr9 98240450 98240450 C A rs370354759 PTCH1 Nonsynonymous SNV A412S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.58 162012 chr12 56078872 56078872 G A rs148170949 ITGA7 Synonymous SNV P680P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.8 162013 chr1 168066410 168066410 C A rs755621404 GPR161 Synonymous SNV V67V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.81 162014 chr10 52588045 52588045 C T rs146662131 A1CF Synonymous SNV Q205Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.958 162015 chrX 107842061 107842061 C A rs368347660 COL4A5 Nonsynonymous SNV Q637K 0.003 0.008 0 1 4 3 0.003 0 1 1 0 0 16.16 162016 chrX 37668909 37668909 T A rs151344452 CYBB Nonsynonymous SNV D517E 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign/Likely benign 18.25 162017 chr1 170633569 170633569 C T rs372174969 PRRX1 Synonymous SNV L70L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 10.28 162018 chrX 117959658 117959658 C G rs373394072 ZCCHC12 Nonsynonymous SNV R151G 0.003 0.003 0 0 3 1 0 0 1 0 0 0 28.2 162019 chr11 1085798 1085798 G A rs72655317 MUC2 Nonsynonymous SNV V907I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.2 162020 chrX 53407996 53407996 G A rs142611198 SMC1A Synonymous SNV A1150A 0.006 0.008 0.007 0 7 3 0 2 2 1 0 0 Benign/Likely benign 5.187 162021 chrX 125955109 125955109 C T PRR32 Nonsynonymous SNV A163V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.254 162022 chr1 173934046 173934046 T C rs145436972 RC3H1 Nonsynonymous SNV Y516C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 162023 chrX 133700195 133700195 T C PLAC1 Nonsynonymous SNV H173R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 162024 chr1 177905488 177905488 A T rs200531270 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV V498E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.21 162025 chr14 104642218 104642218 G A rs772926746 KIF26A Synonymous SNV E1031E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.812 162026 chr8 48882557 48882557 T C MCM4 Synonymous SNV I458I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.01 162027 chr1 179621193 179621193 C G rs368329272 TDRD5 Nonsynonymous SNV P229R 0 0 0 1 0 0 0.003 0 0 0 0 0 32 162028 chr11 118513078 118513078 C A rs144530920 PHLDB1 Nonsynonymous SNV P948Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 162029 chr8 6302728 6302728 T C rs565739739 MCPH1 Synonymous SNV T447T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.508 162030 chr11 113853961 113853961 C T rs146411553 HTR3A Nonsynonymous SNV P165L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 162031 chr11 118769588 118769588 C T rs765618851 BCL9L Nonsynonymous SNV E1346K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 162032 chr10 101648658 101648658 A G rs138530279 DNMBP Nonsynonymous SNV M702T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.7 162033 chr1 183187613 183187613 C T rs142335339 LAMC2 Nonsynonymous SNV R165C 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 Likely benign 35 162034 chr10 101715453 101715453 G A rs111969797 DNMBP Nonsynonymous SNV S593L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.5 162035 chrX 152662852 152662852 G A PNMA6E Nonsynonymous SNV R486W 0.003 0 0 0 3 0 0 0 1 0 0 0 4.977 162036 chr11 119290910 119290910 C T rs367864457 THY1 Nonsynonymous SNV R75H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 162037 chr10 102744327 102744327 C A rs962694375 SEMA4G Nonsynonymous SNV Q596K 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 15.91 162038 chr1 193045079 193045079 G A rs751221050 RO60 Nonsynonymous SNV R237H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 162039 chr10 72468482 72468482 G A rs780210737 ADAMTS14 Nonsynonymous SNV R273H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 162040 chrX 19606777 19606777 G A SH3KBP1 Nonsynonymous SNV P190S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 162041 chr10 81697811 81697811 C T rs4469829 SFTPD Nonsynonymous SNV E309K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.23 162042 chr8 8560688 8560688 G A rs200726525 CLDN23 Synonymous SNV S260S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.349 162043 chr10 73558271 73558271 G T rs111033495 CDH23 Synonymous SNV L90L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.657 162044 chr10 106039141 106039141 C T rs140382580 GSTO2 Nonsynonymous SNV T99I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.43 162045 chr8 143310865 143310865 C T rs1038355446 TSNARE1 Nonsynonymous SNV A509T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.884 162046 chr10 106058940 106058940 C T rs157078 GSTO2 Synonymous SNV D148D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 12.74 162047 chr10 73560497 73560497 C T rs111033289 CDH23 Synonymous SNV R249R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 18.16 162048 chr10 106118294 106118294 G T rs140943458 CFAP58 Nonsynonymous SNV A69S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.9 162049 chr10 73574996 73574996 C T rs377118941 CDH23 Synonymous SNV D204D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.18 162050 chr10 73587777 73587777 G C rs141199649 PSAP Synonymous SNV A238A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.63 162051 chr10 74034506 74034506 C G DDIT4 Nonsynonymous SNV P87A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 162052 chr10 115338397 115338397 T A rs774459136 HABP2 Nonsynonymous SNV C168S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26 162053 chr14 24613464 24613464 T C PSME2 Nonsynonymous SNV K145R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 162054 chrX 47774515 47774515 A G rs41312157 ZNF81 Nonsynonymous SNV N157S 0.007 0.01 0.014 5 8 4 0.013 4 1 2 1 2 Conflicting interpretations of pathogenicity 0.001 162055 chr8 145001791 145001791 G A rs202185399 PLEC Synonymous SNV V1167V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign/Likely benign 12.29 162056 chr10 86018364 86018364 C T rs200927654 RGR Nonsynonymous SNV P244L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.119 162057 chr8 145687751 145687751 G A rs558278782 CYHR1 Nonsynonymous SNV A96V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.122 162058 chr14 39777734 39777734 A G rs369742552 MIA2 Nonsynonymous SNV Q299R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 162059 chr8 145698599 145698599 G C rs201531388 KIFC2 Nonsynonymous SNV Q761H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.5 162060 chr1 209790859 209790859 G A rs114040223 LAMB3 Nonsynonymous SNV R1042W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 34 162061 chr1 209800800 209800800 C T rs112316651 LAMB3 Synonymous SNV K471K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 16.7 162062 chr1 209801474 209801474 C T rs116602483 LAMB3 Synonymous SNV Q398Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 9.695 162063 chr1 209946319 209946319 G C rs769254539 TRAF3IP3 Nonsynonymous SNV K243N 0 0 0 1 0 0 0.003 0 0 0 0 0 23 162064 chr11 130059701 130059701 G A rs150984123 ST14 Nonsynonymous SNV E170K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 162065 chr11 100558520 100558520 G A rs201532750 ARHGAP42 Synonymous SNV K37K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 162066 chr14 52534750 52534750 G A NID2 Synonymous SNV G120G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 162067 chr1 215990489 215990489 A C USH2A Nonsynonymous SNV I3140M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 162068 chr11 15247313 15247313 G A rs114382440 INSC Nonsynonymous SNV R328H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 162069 chr11 15262048 15262048 C T rs377622304 INSC Synonymous SNV D441D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 162070 chr1 220364504 220364504 G T RAB3GAP2 Nonsynonymous SNV L465I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 162071 chr10 103827460 103827460 T G HPS6 Synonymous SNV T743T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.057 162072 chr10 104228948 104228948 C T rs541407219 MFSD13A Synonymous SNV V54V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 15.35 162073 chr11 1307275 1307275 C T TOLLIP Nonsynonymous SNV M139I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 162074 chr8 21985122 21985122 G A rs374318044 HR Nonsynonymous SNV S278F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.48 162075 chr8 25253061 25253061 A G rs760455113 DOCK5 Synonymous SNV E1510E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.146 162076 chr10 14896128 14896128 T C HSPA14 Nonsynonymous SNV F247L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 162077 chr14 70633757 70633757 C G rs191049444 SLC8A3 Nonsynonymous SNV Q461H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.056 162078 chr1 228525819 228525819 C T OBSCN Nonsynonymous SNV P5659S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 162079 chr1 228526619 228526619 G A rs376194851 OBSCN Nonsynonymous SNV S5717N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.2 162080 chr11 102666303 102666303 C T rs200875962 MMP1 Nonsynonymous SNV G155S 0.002 0 0 0 2 0 0 0 0 0 0 0 29 162081 chr10 121612702 121612702 T C rs201015900 MCMBP Nonsynonymous SNV Y145C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.99 162082 chr11 22646562 22646562 G T rs758796858 FANCF Nonsynonymous SNV S265R 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 17.85 162083 chr11 3113665 3113665 G A rs376315376 OSBPL5 Synonymous SNV H684H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.522 162084 chr13 51952474 51952474 A T INTS6 Nonsynonymous SNV F501L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 162085 chr11 34186317 34186317 A C ABTB2 Nonsynonymous SNV L635R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 162086 chr11 280547 280547 G T rs781151412 NLRP6 Synonymous SNV P271P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.443 162087 chr8 57025570 57025570 G A rs140662288 MOS Synonymous SNV S324S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.59 162088 chr11 3727825 3727825 C T rs767808242 NUP98 Synonymous SNV R878R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 162089 chr13 77529630 77529630 C T rs763945083 ACOD1 Synonymous SNV F147F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 162090 chr10 33469190 33469190 T G NRP1 Synonymous SNV I845I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.158 162091 chr10 33469276 33469276 C T rs150351789 NRP1 Nonsynonymous SNV E817K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 7.05 162092 chr1 242030326 242030326 G A rs777937653 EXO1 Synonymous SNV R412R 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 10.64 162093 chr11 45944554 45944554 C G rs199993922 LARGE2 Nonsynonymous SNV R41G 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 0.161 162094 chr11 113561609 113561609 G A rs186244114 TMPRSS5 Synonymous SNV G226G 0.008 0 0.003 4 9 0 0.01 1 0 0 0 0 Likely benign 10.89 162095 chr11 46407385 46407385 C T rs375252473 CHRM4 Synonymous SNV T241T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.789 162096 chr9 136259419 136259419 C T rs200576190 STKLD1 Synonymous SNV D195D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 4.207 162097 chr11 114401242 114401242 G A rs115653681 NXPE1 Nonsynonymous SNV T21I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 162098 chr1 247615115 247615115 G A rs747770501 OR2B11 Nonsynonymous SNV P57L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 4.142 162099 chr10 48388710 48388710 G A rs148247227 RBP3 Nonsynonymous SNV P723L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 162100 chr15 25427233 25427233 A G rs143787314 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 2.824 162101 chr11 121174248 121174248 A G rs778919181 SC5D Nonsynonymous SNV Y55C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 162102 chr11 47361334 47361334 G A rs727503193 MYBPC3 Synonymous SNV P645P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.402 162103 chr1 248570310 248570310 A G rs754172864 OR2T1 Nonsynonymous SNV I339V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.9 162104 chr10 25288470 25288470 A T rs41279884 ENKUR Nonsynonymous SNV I28K 0.006 0 0.01 1 7 0 0.003 3 0 0 0 0 0.275 162105 chr11 123894635 123894635 G A rs150573636 OR10G9 Nonsynonymous SNV A306T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.765 162106 chr9 104499965 104499965 C A rs781001358 GRIN3A Synonymous SNV G99G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 13.37 162107 chr15 40756209 40756209 C T rs140236027 BAHD1 Synonymous SNV N654N 0.003 0 0.01 0 3 0 0 3 0 0 0 0 12.65 162108 chr11 123598944 123598944 G A rs370489461 ZNF202 Synonymous SNV A19A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.29 162109 chr9 139917252 139917252 C T rs759220923 ABCA2 Nonsynonymous SNV R114Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 162110 chr15 41105959 41105959 G T ZFYVE19 Nonsynonymous SNV A319S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 162111 chr15 41222855 41222855 C T rs187700175 DLL4 Synonymous SNV H123H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.33 162112 chr15 41337180 41337180 G A rs61757230 INO80 Synonymous SNV Y943Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.683 162113 chr15 41625167 41625167 C T rs201510924 NUSAP1 Synonymous SNV P4P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 17.15 162114 chr9 109689418 109689418 C T ZNF462 Synonymous SNV G1075G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.248 162115 chr11 5021117 5021117 G C rs148976493 OR51L1 Nonsynonymous SNV R302P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 162116 chr11 5246870 5246870 C G rs113082294 HBB Synonymous SNV V134V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.98 162117 chr15 42979461 42979461 C T rs16957052 STARD9 Synonymous SNV C1895C 0.006 0 0.01 2 7 0 0.005 3 0 0 0 0 11.11 162118 chr15 42981563 42981563 G A rs113194001 STARD9 Nonsynonymous SNV C2596Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.404 162119 chr10 72025953 72025953 C T rs188869837 NPFFR1 Nonsynonymous SNV V68M 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 28.9 162120 chr15 42986471 42986471 A T rs61753412 STARD9 Nonsynonymous SNV Q4232L 0.006 0 0.01 2 7 0 0.005 3 0 0 0 0 25.3 162121 chr2 11755225 11755225 G A rs774143391 GREB1 Nonsynonymous SNV R1044K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.97 162122 chr15 43027835 43027835 G T rs76599133 CDAN1 Synonymous SNV T272T 0.008 0 0.02 2 9 0 0.005 6 0 0 0 0 Benign 7.002 162123 chr15 43044193 43044193 G A rs34348991 TTBK2 Nonsynonymous SNV T1084M 0.008 0 0.017 2 9 0 0.005 5 0 0 0 0 Benign 19.98 162124 chr15 43282285 43282285 C T rs139408969 UBR1 Nonsynonymous SNV G1264E 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Benign 12.69 162125 chr15 43314916 43314916 A G rs149061186 UBR1 Synonymous SNV F941F 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Likely benign 8.57 162126 chr15 45401118 45401118 T C rs941489424 DUOX2 Nonsynonymous SNV T423A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 162127 chr10 74684093 74684093 C T rs200649313 OIT3 Nonsynonymous SNV P353L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 162128 chr11 5537266 5537266 G A rs150539325 UBQLNL Nonsynonymous SNV H136Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 162129 chr15 52258556 52258556 G A rs142281993 LEO1 Synonymous SNV D68D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.29 162130 chr14 23993014 23993014 G C ZFHX2 Nonsynonymous SNV A2046G 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 162131 chr14 23993235 23993235 C T rs758377234 ZFHX2 Synonymous SNV T1972T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.264 162132 chr9 35237703 35237709 GGGCCTG - UNC13B P93Nfs*5 0 0.003 0 2 0 1 0.005 0 0 0 0 0 162133 chr9 123165239 123165239 G C rs141004029 CDK5RAP2 Nonsynonymous SNV L1488V 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 Uncertain significance 0.177 162134 chr10 89505666 89505666 T C rs930250351 PAPSS2 Nonsynonymous SNV F595S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 162135 chr14 30194818 30194818 G A rs149055040 PRKD1 Synonymous SNV T109T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 162136 chr10 90576592 90576592 C G rs187017289 LIPM Nonsynonymous SNV A293G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 162137 chr11 56114197 56114197 T C rs202111514 OR8K1 Nonsynonymous SNV L228P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 162138 chr14 35234467 35234467 A C rs768776081 BAZ1A Nonsynonymous SNV S1071R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 162139 chr9 4286312 4286312 A T rs370797710 GLIS3 Synonymous SNV P38P 0 0.005 0 2 0 2 0.005 0 0 0 0 0 0.157 162140 chr9 5968706 5968706 A G rs562544659 KIAA2026 Synonymous SNV L509L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.025 162141 chr11 17600037 17600037 G A rs144060182 OTOG Nonsynonymous SNV R920H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 162142 chr15 65208046 65208046 G A rs200114325 ANKDD1A Nonsynonymous SNV G29S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.002 162143 chr14 47120389 47120389 A G rs149899709 RPL10L Nonsynonymous SNV M184T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.106 162144 chr10 99416644 99416644 G A rs146387356 PI4K2A Nonsynonymous SNV A279T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.2 162145 chr9 91616615 91616615 C T rs41287347 S1PR3 Nonsynonymous SNV T167M 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 13.96 162146 chr10 7214469 7214469 C T rs145957081 SFMBT2 Synonymous SNV A713A 0.004 0 0 0 5 0 0 0 0 0 0 0 12.83 162147 chr9 95947478 95947478 C T rs141292063 WNK2 Synonymous SNV A89A 0.002 0.005 0 7 2 2 0.018 0 1 1 0 2 17.51 162148 chr15 75130684 75130684 T C ULK3 Nonsynonymous SNV E390G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 162149 chr9 977345 977345 C T DMRT3 Nonsynonymous SNV P115L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.298 162150 chr9 98211591 98211591 G A rs864622621 PTCH1 Synonymous SNV N1136N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.58 162151 chr2 63101649 63101649 T C rs17027450 EHBP1 Synonymous SNV D389D 0 0 0.007 2 0 0 0.005 2 0 0 0 0 5.066 162152 chr11 33739013 33739013 A G rs2231457 CD59 Synonymous SNV H24H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 3.09 162153 chr15 79760547 79760547 C T MINAR1 Nonsynonymous SNV P858S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 162154 chr2 69093439 69093439 G C rs2231342 BMP10 Nonsynonymous SNV T200S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.181 162155 chr14 70855220 70855220 A T rs759665147 SYNJ2BP, SYNJ2BP-COX16 Nonsynonymous SNV D56E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 162156 chr14 74975984 74975984 G A rs767331648 LTBP2 Synonymous SNV C1120C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.809 162157 chr10 90966375 90966375 G A CH25H Synonymous SNV H225H 0.004 0 0 0 5 0 0 0 0 0 0 0 9.78 162158 chr14 76949004 76949004 C G ESRRB Nonsynonymous SNV P230R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 162159 chr10 94234714 94234714 A G rs754638087 IDE Nonsynonymous SNV M112T 0.004 0 0 0 5 0 0 0 0 0 0 0 18.43 162160 chr11 46397959 46397959 C T MIR4688 0.001 0 0 0 1 0 0 0 0 0 0 0 8.71 162161 chr11 47370042 47370042 G A rs767913494 MYBPC3 Synonymous SNV G235G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.211 162162 chr10 97515949 97515949 G A rs200451742 ENTPD1-AS1 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.435 162163 chr15 90349451 90349451 T G ANPEP Nonsynonymous SNV I122L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 162164 chr2 97164978 97164978 C T rs115561660 NEURL3 Nonsynonymous SNV G49E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 4.402 162165 chr11 62285208 62285208 A C rs149505116 AHNAK Nonsynonymous SNV L5561V 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 12.39 162166 chr16 11097155 11097155 G A rs45464291 CLEC16A Synonymous SNV E432E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.11 162167 chrX 53243905 53243905 T C KDM5C Nonsynonymous SNV K296R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.41 162168 chr15 100271615 100271615 A G rs764165014 LYSMD4 Synonymous SNV F69F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.263 162169 chr11 62327597 62327597 T C rs537780043 EEF1G Nonsynonymous SNV N367D 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.1 162170 chr9 32630165 32630165 T C rs16918393 TAF1L Nonsynonymous SNV I1805V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.182 162171 chr9 32634633 32634633 A G rs56351932 TAF1L Synonymous SNV Y315Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.838 162172 chr9 32635308 32635308 G T rs114551428 TAF1L Synonymous SNV G90G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.675 162173 chr9 32635317 32635317 A G rs16918395 TAF1L Synonymous SNV T87T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.928 162174 chr16 1507755 1507755 C T rs201175959 CLCN7 Synonymous SNV T202T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.984 162175 chr16 15847351 15847351 C G rs375133214 MYH11 Synonymous SNV A588A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.874 162176 chr16 17232349 17232349 C T rs551025574 XYLT1 Nonsynonymous SNV D543N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 162177 chr16 1822347 1822347 G A rs750773640 MRPS34 Stop gain R185X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 162178 chr11 65389809 65389809 C A rs374085432 PCNX3 Synonymous SNV R777R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 162179 chr11 65648935 65648937 AGG - rs763974974 CTSW E79del 0.001 0 0 0 1 0 0 0 0 0 0 0 162180 chr11 64678308 64678308 G A rs776550008 ATG2A Nonsynonymous SNV R529W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 162181 chr16 21216887 21216887 C G ZP2 Nonsynonymous SNV G183R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 162182 chr2 152424933 152424933 - AA rs539518038 NEB 0 0 0 1 0 0 0.003 0 0 0 0 0 162183 chr16 2203367 2203367 G A rs138528554 RAB26 Nonsynonymous SNV R239Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.9 162184 chr2 152512745 152512745 G A rs750952879 NEB Synonymous SNV H2139H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.919 162185 chr15 42021387 42021387 T C MGA Nonsynonymous SNV V1228A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 162186 chr11 6652859 6652859 G C rs751966019 DCHS1 Synonymous SNV G1221G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 162187 chr11 6661051 6661051 C A rs111908402 DCHS1 Synonymous SNV L598L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 7.01 162188 chr16 25043624 25043624 C T rs990524977 LOC554206 0 0 0.003 0 0 0 0 1 0 0 0 0 6.479 162189 chr2 160182373 160182373 A G rs376860541 BAZ2B Synonymous SNV N1964N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.387 162190 chr11 6806801 6806801 T A rs150594845 OR2AG1 Nonsynonymous SNV L178H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.1 162191 chr16 28837700 28837700 A G rs754670706 ATXN2L Nonsynonymous SNV Y202C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 162192 chr16 29816237 29816237 G A rs146561986 KIF22 Nonsynonymous SNV D526N 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Benign/Likely benign 17.12 162193 chr16 29899021 29899021 C T rs117448844 SEZ6L2 Nonsynonymous SNV R272H 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 Likely benign 23.5 162194 chr16 30735589 30735589 C T rs770656793 SRCAP Nonsynonymous SNV S1615L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 162195 chr11 118842683 118842683 C A rs145283417 FOXR1 Synonymous SNV L14L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.502 162196 chr16 3086687 3086687 T C rs537646361 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 2.804 162197 chr11 118997714 118997714 G A rs143017588 HINFP Synonymous SNV G20G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.72 162198 chr16 3086695 3086695 - CCAGCCCCCCGACCC rs548873716 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 162199 chr11 119057372 119057374 TGT - rs760573485 PDZD3 V103del 0.003 0 0 0 4 0 0 0 0 0 0 0 162200 chr11 68177556 68177556 G A rs138777930 LRP5 Nonsynonymous SNV V175M 0.003 0 0 0 4 0 0 0 0 0 0 0 31 162201 chr16 31435219 31435219 C T rs757764435 ITGAD Synonymous SNV S1034S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 162202 chr16 31500648 31500648 C T rs762827044 SLC5A2 Nonsynonymous SNV P552S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 162203 chr11 121000718 121000718 C T rs727503460 TECTA Synonymous SNV G913G 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 12.93 162204 chr11 73717340 73717340 T G rs143786748 UCP3 Nonsynonymous SNV T71P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.1 162205 chr11 73748676 73748676 G C rs150116588 C2CD3 Nonsynonymous SNV P1910A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 162206 chr11 73748678 73748678 A G rs138354490 C2CD3 Nonsynonymous SNV L1909P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.04 162207 chr11 74168361 74168361 C T rs17215437 KCNE3 Nonsynonymous SNV R83H 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.94 162208 chr2 175263171 175263171 G T rs147792046 SCRN3 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.8 162209 chr16 3639295 3639295 G A rs368388100 SLX4 Synonymous SNV P1448P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 2.12 162210 chr11 71192451 71192451 G A NADSYN1 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 162211 chr16 4438060 4438060 G A rs143869992 CORO7, CORO7-PAM16 Nonsynonymous SNV R153C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 162212 chr11 73076824 73076824 G A rs377333672 ARHGEF17 Nonsynonymous SNV V1943I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 162213 chr11 73744976 73744976 T G C2CD3 Nonsynonymous SNV I2077L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.94 162214 chr16 4774822 4774822 A C rs62036061 ANKS3 Nonsynonymous SNV C61G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 5.408 162215 chr16 4802675 4802675 G A rs143815276 ZNF500 Nonsynonymous SNV P382L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 162216 chr16 50707782 50707782 C T rs7198294 SNX20 Synonymous SNV Q162Q 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 3.958 162217 chr16 50709792 50709792 C T rs35435054 SNX20 Synonymous SNV T57T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.25 162218 chr15 66795639 66795639 T C rs367601765 SNORD18A 0.003 0 0 0 4 0 0 0 0 0 0 0 14.99 162219 chr11 5653775 5653775 C G rs149385969 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV Q72E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.966 162220 chr15 69690002 69690002 G A rs769719021 LOC145694 0.001 0 0 0 1 0 0 0 0 0 0 0 1.321 162221 chr11 57137441 57137441 G A P2RX3 Nonsynonymous SNV D389N 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24.3 162222 chr11 77734294 77734294 A T rs78436350 KCTD14 Star tloss M1? 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 14.41 162223 chrX 140993843 140993947 CTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT - MAGEC1 P232_S266del 0.003 0 0.01 1 4 0 0.003 3 0 0 1 0 162224 chr11 8478904 8478904 T C rs373561816 STK33 Synonymous SNV A40A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.651 162225 chr11 77911715 77911715 C G rs73507220 USP35 Nonsynonymous SNV P353R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.91 162226 chr11 77921013 77921013 A G rs78142936 USP35 Synonymous SNV G704G 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 3.133 162227 chr11 77921610 77921610 C T rs370057841 USP35 Synonymous SNV F903F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.41 162228 chr11 78204211 78204211 C T rs12285266 NARS2 Synonymous SNV P13P 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 18.09 162229 chr2 179714812 179714812 T - rs766744078 CCDC141 L1107Ffs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 162230 chr15 74637421 74637421 C G rs886051480 CYP11A1 Nonsynonymous SNV D197H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 162231 chr15 75195058 75195058 C T rs377053696 FAM219B Nonsynonymous SNV E167K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 162232 chr16 58706097 58706097 G A SLC38A7 Synonymous SNV L312L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 162233 chr16 597185 597185 C T rs747457500 CAPN15 Nonsynonymous SNV T116M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.443 162234 chr16 602403 602403 C G rs73481377 CAPN15 Synonymous SNV A870A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 7.83 162235 chr16 615299 615299 G A rs751146546 PRR35 Nonsynonymous SNV E570K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 162236 chr16 65397301 65397301 C A LINC00922 0 0 0.003 0 0 0 0 1 0 0 0 0 7.298 162237 chr16 67040718 67040718 A G CES4A Synonymous SNV T407T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 162238 chrX 20028993 20028993 G A rs140304472 MAP7D2 Synonymous SNV D664D 0.001 0 0.003 3 1 0 0.008 1 0 0 0 1 Benign 8.79 162239 chr15 79614538 79614538 C A rs148679775 TMED3 Nonsynonymous SNV S212R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 162240 chr2 188332535 188332535 C T rs759976925 TFPI Synonymous SNV G251G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 162241 chr16 68712423 68712423 G A rs200737028 CDH3 Nonsynonymous SNV R82K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 12.08 162242 chr16 68961710 68961710 T C rs374827702 TANGO6 Synonymous SNV D789D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 162243 chr11 92590488 92590488 C T FAT3 Nonsynonymous SNV P3825L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 162244 chr11 46780824 46780824 T C rs781374348 CKAP5 Synonymous SNV E1521E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.131 162245 chrX 48370793 48370793 G A rs375894841 PORCN Synonymous SNV S151S 0.003 0 0 3 3 0 0.008 0 1 0 0 1 Likely benign 1.135 162246 chr11 47612306 47612306 - GGGCCCA C1QTNF4 Frameshift insertion T20Gfs*10 0.002 0 0 1 2 0 0.003 0 0 0 0 0 162247 chr16 726121 726121 G C rs200482219 RHBDL1 Nonsynonymous SNV G7A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.001 162248 chr16 72992582 72992596 TCTTCCTCCTCCTCT - rs376713069 ZFHX3 E483_E487del 0 0 0.003 0 0 0 0 1 0 0 0 0 162249 chrX 69650889 69650889 C T rs951223856 GDPD2 Nonsynonymous SNV S458L 0.008 0.003 0 4 9 1 0.01 0 3 0 0 1 5.695 162250 chr12 10045679 10045679 C T rs192769469 KLRF2 Nonsynonymous SNV S93L 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 17.95 162251 chr15 89873489 89873489 C G rs147282197 POLG Nonsynonymous SNV Q226H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.59 162252 chr2 208988959 208988959 C G CRYGD Nonsynonymous SNV W43C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 162253 chr16 82722585 82722585 C G rs947282060 MIR8058 0 0 0.003 0 0 0 0 1 0 0 0 0 3.972 162254 chr11 65293714 65293714 G A rs114496618 SCYL1 Synonymous SNV S165S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.12 162255 chr12 110205870 110205870 C T rs765293596 FAM222A Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.918 162256 chr12 111779647 111779647 G A rs373295855 CUX2 Nonsynonymous SNV R1088H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.098 162257 chr16 87445417 87445417 G A rs138128554 ZCCHC14 Synonymous SNV S970S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.324 162258 chr11 66114093 66114093 C T rs200574075 B4GAT1 Synonymous SNV P308P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.418 162259 chr12 10978259 10978259 T A rs146183786 TAS2R10 Nonsynonymous SNV N204Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 162260 chr10 105344320 105344320 T C rs760486210 NEURL1 Nonsynonymous SNV L226P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.6 162261 chr12 109834382 109834382 C T rs546409457 MYO1H Synonymous SNV L146L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.93 162262 chr16 88779286 88779286 C T rs200180602 CTU2 Nonsynonymous SNV A150V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 162263 chr12 112605151 112605151 G A rs372107508 HECTD4 Synonymous SNV L4178L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.26 162264 chr11 6431941 6431941 G A rs766162217 APBB1 Nonsynonymous SNV R213W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 162265 chr2 220161970 220161970 C T rs145338513 PTPRN Synonymous SNV T662T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 16.4 162266 chr11 67223780 67223780 C T rs202001192 CABP4 Synonymous SNV A31A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 162267 chr16 8890404 8890404 A G TMEM186 Nonsynonymous SNV V16A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 162268 chr11 64673948 64673948 G T ATG2A Nonsynonymous SNV P1006Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.6 162269 chr12 117187915 117187915 A G rs760717481 RNFT2 Nonsynonymous SNV H118R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.26 162270 chr16 1399589 1399591 TCA - rs775760085 TSR3 D263del 0.005 0.005 0 0 6 2 0 0 0 0 0 0 162271 chr16 1420349 1420349 G A rs775879748 UNKL Nonsynonymous SNV S456L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 7.105 162272 chr12 121605408 121605408 T C rs146725537 P2RX7 Nonsynonymous SNV Y288H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 14.78 162273 chr2 230653591 230653591 T C TRIP12 Synonymous SNV A1242A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.362 162274 chr17 12664171 12664171 G A rs141707102 LOC100128006 0 0 0.007 0 0 0 0 2 0 0 0 0 3.058 162275 chr17 13980185 13980185 C T rs202207627 COX10 Nonsynonymous SNV P104L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 16.47 162276 chr12 124887095 124887095 - C NCOR2 Frameshift insertion Q498Afs*24 0.001 0 0 1 1 0 0.003 0 0 0 0 0 162277 chr11 55735204 55735204 C T rs776271819 OR10AG1 Nonsynonymous SNV G246S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 20.9 162278 chr12 124887096 124887096 - GC NCOR2 Frameshift insertion Q498Hfs*112 0.001 0 0 1 1 0 0.003 0 0 0 0 0 162279 chr17 15215748 15215748 C T rs201485577 TEKT3 Nonsynonymous SNV R310H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 162280 chr12 125397350 125397350 G A rs762204446 UBC Nonsynonymous SNV P323L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 162281 chr12 124364272 124364272 A G rs901858516 DNAH10 Nonsynonymous SNV Q2735R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.678 162282 chr11 66639582 66639582 G A rs138618426 PC Nonsynonymous SNV R17C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.6 162283 chr12 130830355 130830355 G A rs201447253 PIWIL1 Nonsynonymous SNV R83H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 162284 chr10 127434458 127434458 A G rs779733068 EDRF1 Nonsynonymous SNV K891E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.024 162285 chr12 130921566 130921566 C T rs749401233 RIMBP2 Nonsynonymous SNV E626K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 162286 chr12 132394488 132394488 G A ULK1 Synonymous SNV P250P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.36 162287 chr11 68704124 68704124 G A rs143986510 IGHMBP2 Nonsynonymous SNV V726M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 0.883 162288 chr16 29912514 29912514 C T rs148270044 ASPHD1 Synonymous SNV P74P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.67 162289 chr11 71718373 71718373 G A rs200576707 NUMA1 Synonymous SNV F1761F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.32 162290 chr11 56409106 56409106 - GATG rs773529226 OR5AP2 Frameshift insertion S271Ifs*2 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 162291 chr16 30369656 30369656 G A rs972889729 TBC1D10B Nonsynonymous SNV P679L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 162292 chr12 2062323 2062323 - TGCTGCTGC DCP1B Q261_E262insQQQ 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 162293 chr17 25637187 25637187 C A rs190930104 WSB1 Nonsynonymous SNV L183I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 162294 chr16 31120696 31120696 C A BCKDK Nonsynonymous SNV T51N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 162295 chr12 25261024 25261024 - T LRMP Stop gain K479* 0.002 0 0 0 2 0 0 0 0 0 0 0 162296 chr12 100657450 100657450 G A rs777554352 DEPDC4 Synonymous SNV L127L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.348 162297 chr11 57886441 57886441 C T rs139300657 OR9I1 Nonsynonymous SNV R159H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11.27 162298 chr17 33256030 33256030 C A CCT6B Nonsynonymous SNV A455S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 162299 chr3 9879890 9879890 A T rs369448971 RPUSD3 Nonsynonymous SNV V274D 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 162300 chr10 27012811 27012811 C G rs142182789 PDSS1 Nonsynonymous SNV S229C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 24 162301 chr11 55761867 55761867 G A rs144123172 OR5F1 Nonsynonymous SNV P79S 0.014 0.005 0.003 3 16 2 0.008 1 1 0 0 0 24.1 162302 chr12 46123631 46123631 G T rs781723038 ARID2 Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.204 162303 chr10 29169312 29169312 T C rs189059576 C10orf126 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.027 162304 chr12 47471304 47471304 C T rs11836128 AMIGO2 Synonymous SNV E494E 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 8.532 162305 chr11 86382874 86382874 G A rs768008081 ME3 Nonsynonymous SNV P38L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.111 162306 chr16 49314899 49314899 G A rs1009430172 CBLN1 Nonsynonymous SNV P107S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 162307 chr12 108012040 108012040 G A rs150221761 BTBD11 Synonymous SNV P316P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.9 162308 chr11 59608785 59608785 A G rs886048404 CBLIF Nonsynonymous SNV M175T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24 162309 chr16 50711322 50711328 GGTCCTG - rs776036441 SNX20 P37Lfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 162310 chr12 10959421 10959421 G A rs776855827 TAS2R8 Synonymous SNV I53I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.701 162311 chr3 27216197 27216197 C T rs55780680 NEK10 Nonsynonymous SNV R190K 0 0 0.01 3 0 0 0.008 3 0 0 1 0 20.8 162312 chr3 27326131 27326131 T C rs55833401 NEK10 Nonsynonymous SNV N659S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.5 162313 chr12 49724677 49724677 C A rs530806755 TROAP Nonsynonymous SNV S683R 0.002 0 0 0 2 0 0 0 0 0 0 0 33 162314 chr12 110944451 110944451 C T RAD9B Nonsynonymous SNV T42I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 162315 chr3 27473156 27473156 T A rs73824931 SLC4A7 Nonsynonymous SNV E261D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.23 162316 chr12 50356070 50356070 C T rs772192945 AQP5 Synonymous SNV Y90Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.64 162317 chr17 38906839 38906839 A C rs146925647 KRT25 Nonsynonymous SNV L323R 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 29.4 162318 chr11 93583617 93583617 G A rs202109475 VSTM5 Nonsynonymous SNV L18F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.77 162319 chr10 46121886 46121886 C T rs41299230 ZFAND4 Nonsynonymous SNV R462Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 24.5 162320 chr12 51511503 51511503 T C rs759197805 TFCP2 Nonsynonymous SNV D101G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 162321 chr3 36547318 36547318 G A rs143177782 STAC Synonymous SNV L243L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 162322 chr12 11420941 11420941 G T rs61737269 PRB3 Nonsynonymous SNV P81Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 162323 chr12 53207583 53207583 - CACCAAAGCCACCAGTGCCGAAACCAGCTCTGAAGCCGCCGG rs11267392 KRT4 G86_G87insAGGFRAGFGTGGFG 0.001 0 0 0 1 0 0 0 0 0 0 0 162324 chr10 50948839 50948839 G A rs931525469 OGDHL Nonsynonymous SNV T477M 0 0 0 1 0 0 0.003 0 0 0 0 0 23 162325 chr12 53457000 53457000 G A rs374042745 TNS2 Synonymous SNV K1327K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.37 162326 chr10 51582911 51582911 C T rs113955117 NCOA4 Nonsynonymous SNV T229I 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 0.561 162327 chr12 53566336 53566336 G C rs145064540 CSAD Nonsynonymous SNV R75G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 26.3 162328 chr12 53591706 53591706 C T rs560213889 ITGB7 Synonymous SNV A77A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.8 162329 chr17 41165155 41165155 G A rs763377602 IFI35 Nonsynonymous SNV R71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 162330 chr12 53702981 53702981 C T rs140360792 AAAS Nonsynonymous SNV G266S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 162331 chr12 124256171 124256171 G A rs374747661 DNAH10 Nonsynonymous SNV E108K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.423 162332 chr12 124419287 124419287 A G rs187199487 DNAH10 Nonsynonymous SNV I4415V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.2 162333 chr12 124856579 124856579 G A rs759359540 NCOR2 Synonymous SNV G914G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.12 162334 chr12 55420896 55420896 A - rs758025089 NEUROD4 K225Sfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 162335 chr12 55420897 55420897 A G rs770795909 NEUROD4 Nonsynonymous SNV K225R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 162336 chr12 131293210 131293210 C T rs149127129 STX2 Nonsynonymous SNV R107Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 162337 chr12 56397592 56397592 A G rs758137492 SUOX Nonsynonymous SNV Y140C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 162338 chr3 49695164 49695164 G C rs758158692 BSN Nonsynonymous SNV Q2725H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.142 162339 chr10 72292382 72292382 C T rs769539071 PALD1 Synonymous SNV H213H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.08 162340 chr17 4646737 4646737 C T rs943567857 ZMYND15 Synonymous SNV S428S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.788 162341 chr12 118506331 118506333 TCC - VSIG10 E474del 0.002 0 0 0 2 0 0 0 0 0 0 0 162342 chr3 50392798 50392798 G A rs777045193 TMEM115 Synonymous SNV F344F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 162343 chr11 67171682 67171682 G C TBC1D10C Nonsynonymous SNV Q3H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.33 162344 chr3 51691617 51691617 A G rs759958826 RAD54L2 Nonsynonymous SNV N1083S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 162345 chr11 61018652 61018652 G A rs752639813 PGA5 Nonsynonymous SNV E356K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.127 162346 chr17 4837072 4837072 C T rs369052917 GP1BA Synonymous SNV P391P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 162347 chr12 12356207 12356207 C T rs142393548 LRP6 Nonsynonymous SNV E193K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 162348 chr12 124074905 124074905 A G rs768288387 TMED2 Synonymous SNV L130L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.835 162349 chr12 124104074 124104074 G A rs145230532 DDX55 Nonsynonymous SNV V477M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 13.41 162350 chr12 124139523 124139523 T C GTF2H3 Nonsynonymous SNV V139A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 162351 chr10 81928759 81928759 G C rs751254253 ANXA11 Nonsynonymous SNV S176C 0 0 0 3 0 0 0.008 0 0 0 0 0 23.2 162352 chr11 71155213 71155213 G A rs771419549 DHCR7 Synonymous SNV F49F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 7.936 162353 chr12 27067021 27067021 G A INTS13 Nonsynonymous SNV T487I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 162354 chr12 7069836 7069836 T C rs61753202 PTPN6 Nonsynonymous SNV S562P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.501 162355 chr17 58503639 58503639 C G rs181890967 C17orf64 Nonsynonymous SNV H91D 0 0 0.01 0 0 0 0 3 0 0 0 0 28.2 162356 chr12 307167 307167 C T rs115308035 SLC6A12 Synonymous SNV V283V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.56 162357 chr11 74419379 74419379 G A rs150623836 CHRDL2 Nonsynonymous SNV P100L 0.007 0 0 1 8 0 0.003 0 0 0 0 0 21.9 162358 chr12 7640635 7640635 C A rs781525056 CD163 Nonsynonymous SNV R490L 0.002 0 0 0 2 0 0 0 0 0 0 0 35 162359 chr3 99514350 99514350 C T rs114659746 COL8A1 Synonymous SNV P535P 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 7.02 162360 chr12 132632483 132632483 G A NOC4L Nonsynonymous SNV R221H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.25 162361 chr12 132633435 132633435 - CCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCC NOC4L Frameshift insertion G302Efs*23 0.003 0.005 0.007 3 4 2 0.008 2 0 0 0 1 162362 chr12 40702474 40702474 G A rs140743795 LRRK2 Nonsynonymous SNV V1389I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.017 162363 chr10 98825794 98825794 C T rs146170106 SLIT1 Nonsynonymous SNV G155R 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 28 162364 chr17 6515336 6515336 A G rs763752752 KIAA0753 Nonsynonymous SNV V184A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 162365 chr12 133324798 133324798 C T ANKLE2 Nonsynonymous SNV D323N 0.003 0 0 0 3 0 0 0 0 0 0 0 7.301 162366 chr12 133357405 133357405 C G rs149936496 GOLGA3 Nonsynonymous SNV K1187N 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 3.453 162367 chr12 8276476 8276476 T C rs750821923 CLEC4A Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 162368 chr11 78176923 78176923 G A rs769693580 NARS2 Nonsynonymous SNV T161M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 162369 chr12 8976348 8976348 G T rs372743813 A2ML1 Synonymous SNV V93V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 162370 chr12 19282749 19282749 A G PLEKHA5 Nonsynonymous SNV N6D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 162371 chr17 72301387 72301387 G A rs191031963 DNAI2 Synonymous SNV Q339Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.751 162372 chr12 49428694 49428694 T C rs146044282 KMT2D Nonsynonymous SNV D3419G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 25 162373 chr11 85436433 85436433 T A rs140826741 SYTL2 Nonsynonymous SNV D1323V 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 10.52 162374 chr11 1017761 1017761 T C rs55771618 MUC6 Synonymous SNV Q1680Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.005 162375 chr12 5154984 5154984 C G KCNA5 Nonsynonymous SNV S557R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 162376 chr17 73487141 73487141 C T rs369035959 TMEM94 Synonymous SNV R390R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 162377 chr17 74274072 74274072 T C rs140284407 QRICH2 Synonymous SNV K1539K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.697 162378 chr17 76117136 76117136 G C TMC6 Nonsynonymous SNV P498R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.621 162379 chr11 73008545 73008545 C T rs773575254 P2RY6 Nonsynonymous SNV R429C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 162380 chr13 114058587 114058587 C T rs370617755 LOC101928841 Synonymous SNV K1306K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.506 162381 chr12 48192588 48192588 G A rs140857628 HDAC7 Nonsynonymous SNV R63C 0.007 0.013 0.01 2 8 5 0.005 3 0 0 0 0 31 162382 chr13 21165141 21165141 A C rs144166809 IFT88 Synonymous SNV P63P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.677 162383 chr13 19753581 19753581 A G rs201830769 TUBA3C Synonymous SNV I42I 0.003 0 0 0 3 0 0 0 0 0 0 0 2.507 162384 chr17 76705747 76705747 C G rs200795973 CYTH1 Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 162385 chr11 111635566 111635566 C T rs1805076 PPP2R1B Nonsynonymous SNV G90D 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Pathogenic 11.26 162386 chr12 49218506 49218506 G A rs1128344 CACNB3 Synonymous SNV P113P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.82 162387 chr13 26620777 26620777 G A rs77556088 SHISA2 Synonymous SNV H254H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.06 162388 chr13 26620924 26620924 G A rs77010561 SHISA2 Synonymous SNV N205N 0.004 0.005 0 0 5 2 0 0 0 0 0 0 5.441 162389 chr13 26620978 26620978 G T rs74965018 SHISA2 Synonymous SNV S187S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 8.008 162390 chr13 31233215 31233215 A G rs765195898 USPL1 Nonsynonymous SNV S672G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 162391 chr17 78326843 78326843 C T rs758334923 RNF213 Synonymous SNV P3469P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.393 162392 chr13 31233242 31233242 G A rs148571786 USPL1 Nonsynonymous SNV E681K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 162393 chr17 27052548 27052548 A G rs377016890 TLCD1 Synonymous SNV I29I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.7 162394 chr17 27400960 27400960 C T TIAF1 Synonymous SNV Q86Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.353 162395 chr13 39261676 39261676 G T FREM2 Synonymous SNV G65G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 162396 chr12 11139210 11139213 AAGT - rs750232401 TAS2R50 T83Lfs*7 0.003 0.003 0 0 4 1 0 0 0 0 0 0 162397 chr13 39343721 39343721 G A rs145208009 FREM2 Nonsynonymous SNV G1806D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.13 162398 chr17 2867232 2867232 G A rs199980639 RAP1GAP2 Nonsynonymous SNV G106D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.42 162399 chr12 52761107 52761107 G A KRT85 Nonsynonymous SNV T28I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.69 162400 chr17 79918775 79918775 C T rs557946260 NOTUM Nonsynonymous SNV G4E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 162401 chr17 80332934 80332934 C T rs199914220 UTS2R Nonsynonymous SNV S245F 0 0.005 0.01 0 0 2 0 3 0 0 0 0 2.413 162402 chr13 45563506 45563506 G A NUFIP1 Synonymous SNV P22P 0.004 0 0 0 5 0 0 0 0 0 0 0 8.113 162403 chr12 63543990 63543990 C A AVPR1A Nonsynonymous SNV Q209H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.32 162404 chr12 117968784 117968784 C T rs375966986 KSR2 Synonymous SNV A588A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.96 162405 chr13 49956949 49956949 T C rs760038958 CAB39L Nonsynonymous SNV K33R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 162406 chr13 49885010 49885010 G A rs117534424 CAB39L Synonymous SNV F318F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 162407 chr13 51854668 51854668 C T rs190701077 FAM124A Nonsynonymous SNV P306L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 162408 chr3 171969206 171969206 A G FNDC3B Nonsynonymous SNV Y222C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 162409 chr12 121758210 121758210 G A rs139334549 ANAPC5 Nonsynonymous SNV P386L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 162410 chr13 53039442 53039442 G A rs148820633 CKAP2 Nonsynonymous SNV E441K 0.005 0 0 2 6 0 0.005 0 0 0 0 0 31 162411 chr3 183381277 183381277 G A rs201815278 KLHL24 Nonsynonymous SNV V318I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.74 162412 chr12 55968751 55968751 C T rs201662798 OR2AP1 Nonsynonymous SNV L185F 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 162413 chr3 184020509 184020509 G T PSMD2 Synonymous SNV G172G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.813 162414 chr18 28722074 28722074 G T DSC1 Nonsynonymous SNV P383Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 162415 chr3 184429332 184429332 T C rs34540780 MAGEF1 Nonsynonymous SNV K93R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.896 162416 chr3 184550479 184550479 T C VPS8 Synonymous SNV T75T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.21 162417 chr18 2925284 2925284 G A rs150806357 LPIN2 Nonsynonymous SNV P626S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.4 162418 chr12 125449043 125449043 G T rs201143572 DHX37 Nonsynonymous SNV R648S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 162419 chr12 125449044 125449044 G T rs931191466 DHX37 Nonsynonymous SNV D647E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 162420 chr14 101349912 101349912 T C rs200271756 RTL1 Nonsynonymous SNV N405S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 162421 chr12 58112852 58112852 C T OS9 Nonsynonymous SNV T464I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 162422 chr11 134153636 134153636 T C GLB1L3 Nonsynonymous SNV L178P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 162423 chr14 105176467 105176467 G A rs370830904 INF2 Synonymous SNV A727A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.763 162424 chr12 94975428 94975428 A G rs748168407 TMCC3 Nonsynonymous SNV I291T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 162425 chr12 96052912 96052912 G A rs200214792 NTN4 Nonsynonymous SNV P590S 0.004 0.003 0 5 5 1 0.013 0 0 0 0 1 17.16 162426 chr11 17574923 17574923 G A rs186893662 OTOG Nonsynonymous SNV G145S 0.004 0.003 0.003 5 5 1 0.013 1 0 0 0 0 Uncertain significance 34 162427 chr18 5397304 5397304 T C rs200823240 EPB41L3 Nonsynonymous SNV H643R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.034 162428 chr11 17667162 17667162 G A rs548280117 OTOG Nonsynonymous SNV R2850H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 162429 chr12 70072569 70072569 G A rs201055197 BEST3 Nonsynonymous SNV R34W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 162430 chr11 18487234 18487234 C T rs201761125 LDHAL6A Nonsynonymous SNV R99C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 162431 chr12 98931265 98931265 A G TMPO Nonsynonymous SNV E193G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 162432 chr12 16115806 16115806 T C rs200625241 DERA Synonymous SNV L145L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.697 162433 chr12 9997110 9997110 G C rs776944369 KLRF1 Nonsynonymous SNV W178C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 162434 chr12 7280913 7280913 G A rs759115714 RBP5 Stop gain R59X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 162435 chr14 20763884 20763884 T C rs147409941 TTC5 Nonsynonymous SNV S276G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 162436 chr14 20841477 20841477 C T rs113174358 TEP1 Nonsynonymous SNV A2148T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.636 162437 chr14 20852800 20852800 C G rs150481718 TEP1 Synonymous SNV L952L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.176 162438 chr17 40933223 40933223 C A rs61754328 WNK4 Synonymous SNV P169P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 22 162439 chr17 40963741 40963741 G A rs140668306 BECN1 Synonymous SNV F372F 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 8.53 162440 chr14 20856082 20856082 G A rs142826334 TEP1 Nonsynonymous SNV A781V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 162441 chr14 21841565 21841565 C T rs201996123 SUPT16H Nonsynonymous SNV V31I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.419 162442 chr18 6965295 6965295 C T rs200776408 LAMA1 Nonsynonymous SNV R2396Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 162443 chr17 42882032 42882032 C A rs764426181 GJC1 Nonsynonymous SNV S385I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 29.1 162444 chr18 70829140 70829140 C T rs74496677 LOC400655 0 0 0.01 0 0 0 0 3 0 0 0 0 8.535 162445 chr18 70868022 70868022 T A rs545294730 LOC400655 0 0 0.003 0 0 0 0 1 0 0 0 0 0.097 162446 chr14 23994637 23994637 C T rs561952682 ZFHX2 Nonsynonymous SNV R1505H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 162447 chr17 45369541 45369541 C G rs121918448 ITGB3 Nonsynonymous SNV P433A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 24.8 162448 chr14 23392382 23392382 A G rs200712585 PRMT5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.166 162449 chr14 23442725 23442725 T C AJUBA Nonsynonymous SNV D98G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 162450 chr14 24635361 24635361 G A IRF9 Nonsynonymous SNV E380K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 162451 chr14 25325144 25325144 C G STXBP6 Nonsynonymous SNV G150A 0.003 0 0 0 4 0 0 0 0 0 0 0 19.67 162452 chr14 24728926 24728926 C T rs121918717 TGM1 Nonsynonymous SNV R323Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 35 162453 chr19 1014342 1014342 G A rs372676898 TMEM259 Nonsynonymous SNV S119L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 162454 chr13 28155656 28155656 T C LNX2 Nonsynonymous SNV D62G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 162455 chr13 103392205 103392205 A G rs768453637 CCDC168 Synonymous SNV H3614H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.552 162456 chr17 48586079 48586079 C T rs748910884 MYCBPAP Nonsynonymous SNV T15I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.291 162457 chr4 27019495 27019495 C T rs139856611 STIM2 Nonsynonymous SNV P551L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.31 162458 chr13 109550364 109550364 G A rs749977576 MYO16 Nonsynonymous SNV V554I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.2 162459 chr12 4870201 4870201 C T rs73264336 GALNT8 Synonymous SNV Y417Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.25 162460 chr14 35747919 35747919 G A rs568729869 PSMA6 Nonsynonymous SNV R5Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.152 162461 chr14 45642365 45642365 C A rs146061601 FANCM Synonymous SNV R730R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 16.43 162462 chr14 35778186 35778186 A G PSMA6 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 162463 chr17 49197946 49197946 C T rs560278020 SPAG9 Synonymous SNV V24V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 162464 chr13 111109600 111109606 CCAGGCG - COL4A2-AS2 R156Gfs*92 0.003 0 0 1 4 0 0.003 0 0 0 0 0 162465 chr13 111109608 111109642 CCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCC - COL4A2-AS2 G144Tfs*218 0.003 0 0 1 4 0 0.003 0 0 0 0 0 162466 chr11 45949834 45949834 G A rs368849171 LARGE2 Nonsynonymous SNV V621M 0 0 0 2 0 0 0.005 0 0 0 0 0 27.1 162467 chr19 12864100 12864100 G A rs200640940 BEST2 Nonsynonymous SNV R60H 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 20.8 162468 chr14 52481031 52481031 - A NID2 Frameshift insertion A1132Cfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 162469 chr17 56402184 56402184 C T TSPOAP1 Synonymous SNV G250G 0.003 0 0 0 3 0 0 0 0 0 0 0 19.6 162470 chr19 14272209 14272209 G A rs80302075 ADGRL1 Synonymous SNV C475C 0 0 0.007 0 0 0 0 2 0 0 0 0 10.89 162471 chr13 20207923 20207923 C G rs146735121 MPHOSPH8 Nonsynonymous SNV A12G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.64 162472 chr19 14584715 14584715 T C PTGER1 Nonsynonymous SNV T140A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 162473 chr19 1467273 1467273 C T rs766720269 APC2 Nonsynonymous SNV P1324S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 1.399 162474 chr13 21563171 21563171 C A rs754631706 LATS2 Nonsynonymous SNV G250C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24.2 162475 chr13 21563172 21563172 C A rs765750027 LATS2 Nonsynonymous SNV Q249H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 8.988 162476 chr13 21729883 21729883 C A rs142890023 SKA3 Nonsynonymous SNV R396M 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 13.05 162477 chr19 15364583 15364583 T G rs559380003 BRD4 Nonsynonymous SNV S724R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.946 162478 chr13 23914670 23914670 G A rs143287019 SACS Synonymous SNV V968V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.026 162479 chr13 51969508 51969508 C T INTS6 Nonsynonymous SNV V181I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.5 162480 chr14 55818311 55818311 C T rs771722521 FBXO34 Synonymous SNV N401N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.293 162481 chr19 1582652 1582652 G C rs140807955 MBD3 Synonymous SNV V156V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 162482 chr19 15880447 15880447 G A rs181548602 CYP4F24P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.979 162483 chr19 15939996 15939996 C T rs73927742 UCA1 0 0 0.01 0 0 0 0 3 0 0 1 0 6.813 162484 chr19 15940005 15940005 T G rs73003263 UCA1 0 0 0.01 0 0 0 0 3 0 0 1 0 1.225 162485 chr14 58817838 58817838 T C rs17094469 ARID4A Synonymous SNV I484I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.768 162486 chr11 48347056 48347056 C T rs558757638 OR4C3 Synonymous SNV V161V 0 0 0 2 0 0 0.005 0 0 0 0 0 1.874 162487 chr14 65259764 65259764 C T rs752212117 SPTB Nonsynonymous SNV E873K 0.003 0 0 0 3 0 0 0 0 0 0 0 9.946 162488 chr14 62547644 62547644 C T rs777356710 SYT16 Synonymous SNV A181A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.66 162489 chr11 59419033 59419033 G A rs760288629 PATL1 Nonsynonymous SNV S503F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 162490 chr4 74124352 74124352 - CGCCGC ANKRD17 A11_T12insAA 0 0 0 1 0 0 0.003 0 0 0 0 0 162491 chr17 68128479 68128479 C T rs767943946 KCNJ16 Nonsynonymous SNV S119L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 162492 chr13 38166247 38166247 G A rs145182025 POSTN Synonymous SNV G91G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 10.16 162493 chr12 49494962 49494962 A G rs79258173 LMBR1L Nonsynonymous SNV S238P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.04 162494 chr19 17650423 17650423 C G rs200159429 NIBAN3 Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 162495 chr12 50821671 50821671 A G rs140187240 LARP4 Nonsynonymous SNV T49A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.348 162496 chr12 56522301 56522301 A G rs200638178 ESYT1 Nonsynonymous SNV I66M 0.003 0 0 0 4 0 0 0 0 0 0 0 22.5 162497 chr4 84200190 84200190 T C rs755053663 COQ2 Nonsynonymous SNV M111V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.78 162498 chr17 72764640 72764640 T C SLC9A3R1 Nonsynonymous SNV S308P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 162499 chr4 88411494 88411494 T A rs41282397 SPARCL1 Nonsynonymous SNV T363S 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 162500 chr12 58131307 58131307 G A AGAP2 Synonymous SNV A241A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.525 162501 chr4 90857599 90857599 C T rs776154307 MMRN1 Nonsynonymous SNV T923I 0 0 0 2 0 0 0.005 0 0 0 0 0 27.5 162502 chr12 63543723 63543723 C T rs771998042 AVPR1A Synonymous SNV T298T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 162503 chr12 53342968 53342968 C T rs76301931 KRT18 Nonsynonymous SNV T4I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 162504 chr17 73724483 73724483 C T rs75092172 ITGB4 Synonymous SNV S165S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 16.09 162505 chr19 2250476 2250476 C G rs200523942 AMH Nonsynonymous SNV Q185E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.2 162506 chr4 106566357 106566357 C T ARHGEF38 Synonymous SNV N229N 0.005 0 0 3 6 0 0.008 0 0 0 0 0 12.97 162507 chr14 95054256 95054256 A T rs750108912 SERPINA5 Nonsynonymous SNV D186V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 162508 chr14 92088238 92088238 T A rs147320295 CATSPERB Synonymous SNV V658V 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 10.06 162509 chr11 56128086 56128086 C T rs1012456098 OR8J1 Nonsynonymous SNV R122C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 162510 chr14 23770798 23770798 C G rs754862629 PPP1R3E Synonymous SNV P229P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.213 162511 chr14 23862995 23862995 C T rs753515476 MYH6 Synonymous SNV A936A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 162512 chr15 23811095 23811095 G A rs757856299 MKRN3 Nonsynonymous SNV A56T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.42 162513 chr17 76832267 76832267 T C rs369343127 USP36 Nonsynonymous SNV Y60C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 162514 chr15 31294258 31294258 C G rs117105175 TRPM1 Nonsynonymous SNV D1566H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.64 162515 chr15 31775581 31775581 C T OTUD7A Synonymous SNV G899G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 162516 chr17 78172344 78172344 C T rs201285077 CARD14 Nonsynonymous SNV S365L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 162517 chr14 30046526 30046526 T C rs45585836 PRKD1 Nonsynonymous SNV N886S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 162518 chr17 78321588 78321588 T C rs561939481 RNF213 Synonymous SNV I3151I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.018 162519 chr19 37368528 37368528 G C ZNF345 Nonsynonymous SNV A266P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 162520 chr15 26107938 26107938 C A ATP10A Synonymous SNV A102A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 162521 chr15 28096573 28096573 C T rs145968118 OCA2 Nonsynonymous SNV A741T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.5 162522 chr12 70150297 70150297 G A rs76376306 RAB3IP Nonsynonymous SNV A122T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.4 162523 chr14 50778731 50778731 G T rs763726013 L2HGDH Synonymous SNV T46T 0.008 0.008 0 3 9 3 0.008 0 0 0 0 0 11.03 162524 chr12 70724232 70724232 G A rs788378 CNOT2 Synonymous SNV Q184Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.759 162525 chr17 79674197 79674197 A G rs767318617 MRPL12 Nonsynonymous SNV N175S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 162526 chr17 79899604 79899604 A G rs778848724 MYADML2 Nonsynonymous SNV M5T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 162527 chr4 156277028 156277028 G A MAP9 Nonsynonymous SNV T377I 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 162528 chr15 42104179 42104179 G A rs372271667 MAPKBP1 Nonsynonymous SNV V118I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.32 162529 chr15 40030372 40030372 T C rs747684298 FSIP1 Nonsynonymous SNV M271V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 162530 chr19 39233121 39233121 G A rs148606134 CAPN12 Nonsynonymous SNV R119W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 162531 chr19 3938692 3938692 C T rs144718564 NMRK2 Synonymous SNV S91S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.66 162532 chr19 40174305 40174305 C T rs57205516 LGALS17A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.493 162533 chr19 4054349 4054349 C T rs532750291 ZBTB7A Synonymous SNV P294P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.83 162534 chr19 40720965 40720965 C A rs200029351 MAP3K10 Synonymous SNV R877R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 162535 chr11 58920729 58920729 A G rs117988338 FAM111A Nonsynonymous SNV I530V 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 Likely benign 0.003 162536 chr12 88548081 88548081 G A rs1030225814 TMTC3 Nonsynonymous SNV G69E 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 162537 chr19 42563506 42563506 G A rs141012226 GRIK5 Nonsynonymous SNV R228C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 31 162538 chr11 77937742 77937742 T A rs561641037 GAB2 Nonsynonymous SNV I288F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 162539 chr19 42866628 42866628 G A rs200310970 MEGF8 Synonymous SNV R1912R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 2.317 162540 chr11 78383259 78383259 G C rs199973967 TENM4 Nonsynonymous SNV P1871R 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 Likely benign 27.2 162541 chr15 42967130 42967130 G T rs202074007 STARD9 Nonsynonymous SNV R552L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 27.3 162542 chr15 43348610 43348610 T C rs77360687 UBR1 Nonsynonymous SNV S405G 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Benign 16.53 162543 chr15 59911666 59911666 A G rs147015089 GCNT3 Nonsynonymous SNV N410S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 162544 chr15 63054623 63054623 C T rs375082786 TLN2 Synonymous SNV D1644D 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 12.81 162545 chr13 102946180 102946180 C T rs139773893 FGF14-IT1 0.003 0.003 0 0 3 1 0 0 1 0 0 0 15.81 162546 chr15 64448276 64448276 G A rs369889089 PPIB Synonymous SNV I199I 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.79 162547 chr19 44660634 44660634 A G rs372148844 ZNF234 Synonymous SNV K155K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.32 162548 chr15 49800519 49800519 T C rs374653018 FAM227B Nonsynonymous SNV I267V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.12 162549 chr15 50366373 50366373 C T rs34330378 ATP8B4 Nonsynonymous SNV R13Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 162550 chr11 617544 617544 C T rs757387099 CDHR5 Nonsynonymous SNV R588Q 0.003 0 0 4 4 0 0.01 0 0 0 0 0 33 162551 chr15 50940982 50940982 T C rs12913973 TRPM7 Nonsynonymous SNV I75V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.303 162552 chr14 59830426 59830426 G T DAAM1 Nonsynonymous SNV V918F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 162553 chr15 51350218 51350218 C T rs200106121 TNFAIP8L3 Nonsynonymous SNV G159R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 162554 chr5 10387171 10387171 C T rs139266281 MARCHF6 Synonymous SNV L29L 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 12.87 162555 chr19 4512684 4512684 - TAGGACAGTCTTAC rs750341639 PLIN4 Stop gain T430Vfs*5 0 0.005 0.007 0 0 2 0 2 0 1 0 0 162556 chr5 16681986 16681986 C T rs180896948 MYO10 Nonsynonymous SNV V1395M 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 162557 chr19 45801185 45801185 C T MARK4 Nonsynonymous SNV T617I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 162558 chr19 46148634 46148634 A C rs1011297387 EML2 Synonymous SNV A23A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.255 162559 chr19 46332288 46332288 T A rs771713451 SYMPK Nonsynonymous SNV Y642F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 162560 chr15 59911375 59911375 C G rs760754909 GCNT3 Nonsynonymous SNV P313R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 162561 chr15 59911384 59911384 A C GCNT3 Nonsynonymous SNV Q316P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 162562 chr19 48305626 48305626 T C rs62130757 TPRX1 Synonymous SNV P214P 0 0 0.02 0 0 0 0 6 0 0 1 0 0.044 162563 chr19 49344467 49344467 C T rs540978224 PLEKHA4 Nonsynonymous SNV R615Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 162564 chr13 86369318 86369318 A C rs757970555 SLITRK6 Synonymous SNV L442L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 162565 chr15 100657053 100657053 G A rs145594305 ADAMTS17 Synonymous SNV D629D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 0.165 162566 chr19 50119361 50119361 C T rs192948887 PRR12 Synonymous SNV P1794P 0.003 0.01 0.003 3 4 4 0.008 1 0 0 0 0 14.96 162567 chr13 39262826 39262826 C G rs190063725 FREM2 Nonsynonymous SNV L449V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 22.7 162568 chr5 66461869 66461869 C G rs367994508 MAST4 Nonsynonymous SNV P2027A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 162569 chr13 41932462 41932462 G A rs763192759 NAA16 Synonymous SNV P370P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.575 162570 chr19 50839938 50839938 C T rs61730527 NAPSB 0 0 0.01 0 0 0 0 3 0 0 0 0 10.78 162571 chr15 25924770 25924770 T C ATP10A Synonymous SNV P1406P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.454 162572 chr15 75801281 75801281 G A rs201985023 PTPN9 Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 162573 chr14 102808157 102808157 G A rs28646161 ZNF839 Nonsynonymous SNV V693M 0.005 0.01 0.01 4 6 4 0.01 3 0 0 0 0 1.189 162574 chr15 89837164 89837164 A G rs754213871 FANCI Nonsynonymous SNV N798D 0.003 0 0 0 4 0 0 0 0 0 0 0 13.73 162575 chr14 102898204 102898204 G A rs11845676 TECPR2 Nonsynonymous SNV A386T 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 Benign 13.27 162576 chr18 7231174 7231174 A G rs757913487 LRRC30 Nonsynonymous SNV K13R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.249 162577 chr15 38235552 38235552 G A rs75198817 TMCO5A Nonsynonymous SNV V194M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.58 162578 chr18 8818983 8818983 G A rs373772510 MTCL1 Nonsynonymous SNV R961Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 162579 chr15 90934008 90934008 G A rs149599856 IQGAP1 Nonsynonymous SNV V20I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.26 162580 chr19 53085635 53085635 G A rs141741740 ZNF701 Nonsynonymous SNV G108D 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.618 162581 chr15 99679578 99679578 A G rs201218446 TTC23 Synonymous SNV Y390Y 0.003 0 0 0 4 0 0 0 0 0 0 0 1.018 162582 chr5 93076713 93076713 T G rs772280728 POU5F2 Nonsynonymous SNV K186T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 162583 chr19 1065016 1065016 G A ABCA7 Nonsynonymous SNV G2044E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.57 162584 chr15 42927059 42927059 C T rs778682289 STARD9 Synonymous SNV F80F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.95 162585 chr19 1109525 1109525 C T SBNO2 Nonsynonymous SNV G1009S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 162586 chr15 43700202 43700202 C T rs746192682 TP53BP1 Synonymous SNV E1893E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 162587 chr16 15132485 15132485 T C rs915274515 NTAN1 Synonymous SNV T128T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.414 162588 chr15 34134154 34134154 G A rs201791791 RYR3 Nonsynonymous SNV R4371Q 0.006 0.01 0 1 7 4 0.003 0 0 0 0 0 Likely benign 19.24 162589 chr12 130923011 130923011 C T rs148796071 RIMBP2 Nonsynonymous SNV A502T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.1 162590 chr19 1219380 1219380 G A rs376788924 STK11 Synonymous SNV P144P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.981 162591 chr16 1549334 1549334 G A TELO2 Synonymous SNV T311T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.12 162592 chr14 23829365 23829365 G A rs2231802 EFS Synonymous SNV P48P 0.006 0 0.01 1 7 0 0.003 3 1 0 0 0 Benign 1.859 162593 chr14 23862195 23862195 G A rs529676901 MYH6 Synonymous SNV G1059G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.83 162594 chr19 13059563 13059563 G A rs4987203 RAD23A Nonsynonymous SNV R179Q 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.19 162595 chr16 17202738 17202738 C T rs141353269 XYLT1 Synonymous SNV T898T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.69 162596 chr12 133182780 133182780 A T rs564723635 LRCOL1 Nonsynonymous SNV S20T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.988 162597 chr19 1430346 1430346 G A rs774609661 DAZAP1 Nonsynonymous SNV A113T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.02 162598 chr15 40866426 40866426 C T RPUSD2 Nonsynonymous SNV P474L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 162599 chr14 24911449 24911449 C G rs35669030 SDR39U1 Nonsynonymous SNV R6P 0.007 0 0 1 8 0 0.003 0 0 0 0 0 9.105 162600 chr19 5776246 5776246 C G rs200203137 CATSPERD Synonymous SNV G672G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.049 162601 chr15 63631044 63631044 C T CA12 Nonsynonymous SNV R223K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 162602 chr5 133887801 133887801 G A rs777109279 JADE2 Synonymous SNV P71P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 162603 chr19 58213091 58213091 C T rs200045380 ZNF154 Nonsynonymous SNV G409E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.8 162604 chr15 42693906 42693906 G A rs367855757 CAPN3 Synonymous SNV S426S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.07 162605 chr11 93429913 93429913 G A rs867101155 CEP295 Nonsynonymous SNV G612E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.044 162606 chr16 2550438 2550438 C T TBC1D24 Nonsynonymous SNV P485L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 162607 chr11 93435637 93435637 C T rs375284132 CEP295 Synonymous SNV P1762P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.88 162608 chr11 93435673 93435673 G A rs768709251 CEP295 Synonymous SNV G1774G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.114 162609 chr15 43269029 43269029 C G rs759891752 UBR1 Nonsynonymous SNV D1419H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 162610 chr15 43572110 43572110 C T rs150635499 TGM7 Nonsynonymous SNV R464Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 15.2 162611 chr11 94861973 94861973 A G rs61745320 ENDOD1 Nonsynonymous SNV I245V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.004 162612 chr16 2018777 2018777 C T rs199897886 RNF151 Nonsynonymous SNV R197C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 162613 chr19 16687814 16687814 C T rs887972761 MED26 Nonsynonymous SNV R276Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 162614 chr19 59074199 59074199 G C MZF1 Nonsynonymous SNV P482R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 162615 chr15 66586450 66586450 C T DIS3L Nonsynonymous SNV P9L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.19 162616 chr12 100378010 100378010 C T rs199962831 ANKS1B Synonymous SNV G2G 0.01 0 0.003 4 12 0 0.01 1 0 0 0 0 Benign 13.79 162617 chr19 5924900 5924900 T C rs926333831 RANBP3 Nonsynonymous SNV N239D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 162618 chr15 72030189 72030189 A C THSD4 Synonymous SNV S223S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.02 162619 chr19 6903880 6903880 A T rs143245445 ADGRE1 Nonsynonymous SNV S100C 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 25.2 162620 chr19 17487748 17487748 C T rs199706929 PLVAP Nonsynonymous SNV R117H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 162621 chr19 17487864 17487864 C T rs747376101 PLVAP Synonymous SNV T78T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.15 162622 chr5 140768521 140768521 A G PCDHGB4 Nonsynonymous SNV D357G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.65 162623 chr15 55669236 55669236 A T rs768951359 CCPG1 Nonsynonymous SNV V122D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.18 162624 chr16 28883222 28883222 C T rs750400581 SH2B1 Synonymous SNV P141P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 162625 chr19 829668 829668 G T rs142169722 AZU1 Nonsynonymous SNV D108Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 162626 chr12 109660654 109660654 G A rs146058094 ACACB Synonymous SNV V1243V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 162627 chr14 52171602 52171602 G A rs374849145 FRMD6 Synonymous SNV R169R 0.005 0 0.003 0 6 0 0 1 0 0 0 0 10.99 162628 chr14 64519978 64519978 A G rs138689053 SYNE2 Nonsynonymous SNV K3116R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 21.9 162629 chr19 18778539 18778539 C - KLHL26 R141Vfs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 162630 chr19 18990163 18990163 C T rs200539084 CERS1 Nonsynonymous SNV V165I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 162631 chr19 19302916 19302916 G A rs961318846 BORCS8 Nonsynonymous SNV P4L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 162632 chr15 81274299 81274299 G A rs376447024 MESD Synonymous SNV D146D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.94 162633 chr16 31092884 31092884 C T rs375718005 ZNF646 Synonymous SNV L1747L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.533 162634 chr12 112036767 112036767 - TGCTGCTGCTGT rs749747800 ATXN2 Q28_P29insQQQQ 0.003 0 0 1 3 0 0.003 0 0 0 0 0 162635 chr12 112601940 112601940 C T HECTD4 Nonsynonymous SNV C4235Y 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 162636 chr16 315008 315008 A G rs140871153 FAM234A Nonsynonymous SNV Q549R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.013 162637 chr14 71206641 71206641 G A rs770346696 MAP3K9 Nonsynonymous SNV S297L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.38 162638 chr5 148407859 148407859 T C rs757167683 SH3TC2 Nonsynonymous SNV Y479C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.6 162639 chr16 52473683 52473683 G T rs767588384 TOX3 Nonsynonymous SNV N395K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.72 162640 chr14 60007416 60007416 G A CCDC175 Synonymous SNV N444N 0.003 0 0 0 3 0 0 0 0 0 0 0 4.163 162641 chr16 53636079 53636079 C T RPGRIP1L Nonsynonymous SNV G1206D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 162642 chr16 53644956 53644956 G A rs138724933 RPGRIP1L Synonymous SNV Y1128Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.769 162643 chr5 149301253 149301253 G A rs114973968 PDE6A Nonsynonymous SNV P293L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 34 162644 chr14 74523660 74523660 C T rs774259468 BBOF1 Synonymous SNV D480D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.605 162645 chr15 68500491 68500491 C G rs143578698 CLN6 Nonsynonymous SNV S308T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.42 162646 chr15 69715624 69715624 A G rs199679829 KIF23 Nonsynonymous SNV I120M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 19.16 162647 chr14 76525062 76525062 T C rs868377488 IFT43 Nonsynonymous SNV L98P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.049 162648 chr16 422085 422085 G T rs145361083 TMEM8A Nonsynonymous SNV P740T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.83 162649 chr16 426167 426167 C T rs151156580 PGAP6 Nonsynonymous SNV G398D 0.001 0 0 0 1 0 0 0 0 0 0 0 26 162650 chr19 2917262 2917262 G A rs189035490 ZNF57 Nonsynonymous SNV V183I 0.003 0 0 0 3 0 0 0 0 0 0 0 1.158 162651 chr12 121154457 121154457 G A rs776883272 UNC119B Nonsynonymous SNV G129S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.911 162652 chr14 68276000 68276000 G A rs754738047 ZFYVE26 Nonsynonymous SNV L94F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.97 162653 chr15 89422287 89422287 G A rs935884458 HAPLN3 Nonsynonymous SNV P236L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 162654 chr5 151202375 151202377 CTC - rs767780037 GLRA1 E320del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 162655 chr15 75044485 75044485 C T rs148157092 CYP1A2 Nonsynonymous SNV R355W 0.005 0.005 0 0 6 2 0 0 0 0 0 0 27.8 162656 chr19 3492433 3492433 G A rs200085356 DOHH Nonsynonymous SNV P139L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.1 162657 chr14 73159819 73159819 C T DPF3 Nonsynonymous SNV R236Q 0.007 0 0 0 8 0 0 0 0 0 0 0 22.8 162658 chr19 9271275 9271275 C T ZNF317 Synonymous SNV S286S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 162659 chr15 75500529 75500529 G A rs143834868 C15orf39 Nonsynonymous SNV V714I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 162660 chr12 122670741 122670741 C T rs182225221 LRRC43 Nonsynonymous SNV T139I 0.002 0.008 0.024 4 2 3 0.01 7 0 0 0 0 23.6 162661 chr16 677598 677598 G A rs545420040 RAB40C Synonymous SNV S274S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.724 162662 chr16 50112794 50112794 G T rs34703459 HEATR3 Nonsynonymous SNV R71S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.26 162663 chr16 50187856 50187856 G A rs186724823 TENT4B Synonymous SNV T108T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.44 162664 chr12 123340828 123340828 C T HIP1R Synonymous SNV R446R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.43 162665 chr15 78295765 78295765 T C rs138988358 TBC1D2B Nonsynonymous SNV Q819R 0.009 0.008 0.007 2 11 3 0.005 2 0 0 0 0 Likely benign 24.2 162666 chr15 92671668 92671668 G A rs774718294 SLCO3A1 Synonymous SNV G487G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.62 162667 chr16 56501149 56501149 C T rs745938796 OGFOD1 Nonsynonymous SNV R243W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 162668 chr16 57474740 57474740 G T rs11557672 CIAPIN1 Nonsynonymous SNV A34E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.452 162669 chr14 95035890 95035890 T C SERPINA4 Synonymous SNV S451S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.013 162670 chr16 57707249 57707249 C G rs73552781 ADGRG3 Synonymous SNV T25T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.367 162671 chr16 57719704 57719704 G A rs150741729 ADGRG3 Nonsynonymous SNV R349Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.345 162672 chr16 57722349 57722349 G C rs200052630 ADGRG3 Nonsynonymous SNV Q422H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.788 162673 chr14 79432405 79432405 C A NRXN3 Nonsynonymous SNV H438Q 0.008 0 0 0 9 0 0 0 0 0 0 0 25.3 162674 chr16 72991697 72991723 GCCGCCGCCGCCGCAGCCACCGCCGCC - rs775101010 ZFHX3 A776_A784del 0.003 0 0 0 4 0 0 0 0 0 0 0 162675 chr19 37440497 37440497 A T rs77828090 ZNF568 Nonsynonymous SNV I84L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 4.981 162676 chr19 37441252 37441252 C T rs76825607 ZNF568 Synonymous SNV F335F 0.004 0 0.007 0 5 0 0 2 0 0 0 0 13.01 162677 chr19 37487704 37487704 G A rs59929627 ZNF568 Nonsynonymous SNV E307K 0.004 0 0.007 0 5 0 0 2 0 0 0 0 26.4 162678 chr12 132404020 132404020 C T rs149070426 ULK1 Synonymous SNV F896F 0.008 0.005 0 1 9 2 0.003 0 0 0 0 0 8.297 162679 chr1 114354433 114354433 T G rs199843404 RSBN1 Nonsynonymous SNV D201A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 162680 chr16 12662373 12662373 C T rs138093631 SNX29 Nonsynonymous SNV P777S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.24 162681 chr15 101170181 101170181 T C rs771288705 ASB7 Synonymous SNV L251L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.206 162682 chr19 37643568 37643568 T G rs148426475 ZNF585A Synonymous SNV I411I 0.003 0 0.007 0 4 0 0 2 0 0 0 0 9.888 162683 chr1 115222312 115222312 C T rs764094155 AMPD1 Nonsynonymous SNV R291Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 162684 chr19 37676150 37676150 A G rs113621137 ZNF585B Synonymous SNV V763V 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.18 162685 chr19 37676153 37676153 A G rs199915911 ZNF585B Synonymous SNV S762S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 0.003 162686 chr19 37904452 37904452 T G rs139933067 ZNF569 Nonsynonymous SNV I211L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.1 162687 chr1 1168186 1168186 - CGC rs1057034356 B3GALT6 R180_L181insR 0 0 0.003 0 0 0 0 1 0 0 0 0 162688 chr16 67876823 67876823 - CAG rs751985625 THAP11 Q132_S133insQ 0.003 0 0 3 3 0 0.008 0 0 0 0 1 162689 chr15 24921101 24921101 C T NPAP1 Synonymous SNV S29S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11 162690 chr16 685636 685636 A G rs370244134 METTL26 Synonymous SNV H112H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 162691 chr16 68772239 68772239 C A rs139866691 CDH1 Nonsynonymous SNV P30T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.94 162692 chr16 81739118 81739118 C A rs201316817 CMIP Synonymous SNV G608G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.88 162693 chr15 32972116 32972116 G A ARHGAP11A-SCG5, SCG5 Nonsynonymous SNV A126T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 162694 chr15 34649336 34649336 G A rs149177074 NUTM1 Nonsynonymous SNV E1033K 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Likely benign 23.8 162695 chr16 721168 721168 T C rs141691318 RHOT2 Synonymous SNV D227D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 162696 chr16 72139510 72139510 A T DHX38 Nonsynonymous SNV Y825F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 162697 chr16 84529483 84529483 T A MEAK7 Nonsynonymous SNV T64S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.274 162698 chr16 76528840 76528840 C A rs766998790 CNTNAP4 Nonsynonymous SNV T576N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 162699 chr1 146649777 146649777 G A rs112196423 PDIA3P1 0 0 0.048 0 0 0 0 14 0 0 1 0 9.922 162700 chr1 146650007 146650007 G A rs72708526 PDIA3P1 0 0 0.048 0 0 0 0 14 0 0 1 0 2.2 162701 chr1 146650312 146650312 G A rs72708527 PDIA3P1 0 0 0.048 0 0 0 0 14 0 0 1 0 5.716 162702 chr1 146650363 146650363 T A rs17159909 PDIA3P1 0 0 0.048 0 0 0 0 14 0 0 1 0 4.268 162703 chr1 146650542 146650542 A G rs62623395 PDIA3P1 0 0 0.048 0 0 0 0 14 0 0 1 0 3.02 162704 chr1 146650723 146650723 G A rs62623392 PDIA3P1 0 0 0.048 0 0 0 0 14 0 0 1 0 1.69 162705 chr16 11770178 11770178 G A rs150527306 SNN Nonsynonymous SNV G88D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 162706 chr6 10802201 10802201 T C rs371639894 MAK Nonsynonymous SNV N252S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 162707 chr12 29911698 29911698 C T rs372238552 TMTC1 Nonsynonymous SNV V165I 0 0 0 1 0 0 0.003 0 0 0 0 0 34 162708 chr15 41062911 41062911 G C rs779330480 C15orf62 Nonsynonymous SNV R73P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 162709 chr19 42265344 42265344 C T rs781826090 CEACAM6 Synonymous SNV S204S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 162710 chr16 22262513 22262513 G T rs145216064 EEF2K Nonsynonymous SNV G163V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.77 162711 chr6 15520346 15520346 G C rs768251933 JARID2 Nonsynonymous SNV G1030A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.32 162712 chr16 88729463 88729463 G A rs142431370 MVD Nonsynonymous SNV A9V 0.003 0 0 0 3 0 0 0 0 0 0 0 3.623 162713 chr15 42046730 42046730 G A rs189891661 MGA Synonymous SNV K2159K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.36 162714 chr12 39711947 39711947 C T rs139695269 KIF21A Nonsynonymous SNV R1259Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.4 162715 chr15 42127377 42127377 T G rs143398561 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV L143R 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 23.3 162716 chr16 88967996 88967996 G A rs756075985 CBFA2T3 Nonsynonymous SNV R74W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 162717 chr16 27414525 27414525 G A rs765957530 IL21R Nonsynonymous SNV G12R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.837 162718 chr16 2765745 2765745 G A PRSS27 Synonymous SNV V70V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.502 162719 chr12 472253 472253 A G KDM5A Nonsynonymous SNV M183T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.16 162720 chr6 25851105 25851105 C T rs541149716 SLC17A3 Nonsynonymous SNV G160E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 162721 chr15 43299366 43299366 A G rs368692976 UBR1 Nonsynonymous SNV I1109T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.52 162722 chr1 1534738 1534738 G A rs528331298 FNDC10 Nonsynonymous SNV P220S 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 24 162723 chr16 30680544 30680552 GCCGCCGCT - rs749226697 FBRS A847_A849del 0.002 0 0 0 2 0 0 0 0 0 0 0 162724 chr1 154192348 154192348 C T rs754814116 C1orf43 Synonymous SNV R44R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.24 162725 chr1 154570312 154570312 A G rs150171059 ADAR Synonymous SNV H347H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 8.391 162726 chr12 49958293 49958293 G A MCRS1 Synonymous SNV Y189Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.954 162727 chr1 154987363 154987363 G T rs145349387 ZBTB7B Nonsynonymous SNV G76V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 11.01 162728 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGG MYH3 Frameshift insertion G203Lfs*67 0.008 0.008 0 0 9 3 0 0 0 0 0 0 162729 chr16 21136681 21136681 T C rs755736119 DNAH3 Nonsynonymous SNV T407A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.575 162730 chr1 15541824 15541824 A G rs560355264 TMEM51 Nonsynonymous SNV I81V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 162731 chr16 3349369 3349369 C G rs1020687224 TIGD7 Nonsynonymous SNV E416Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.612 162732 chr19 4538168 4538168 G A rs114181633 LRG1 Synonymous SNV P276P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.92 162733 chr16 23387069 23387069 G A rs201575688 SCNN1B Nonsynonymous SNV R388H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.64 162734 chr16 23388690 23388690 C A SCNN1B Nonsynonymous SNV P463T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 162735 chr17 16527093 16527093 A G rs767831178 ZNF624 Synonymous SNV F369F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.234 162736 chr15 63058552 63058552 G A rs753082619 TLN2 Synonymous SNV Q1709Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 162737 chr6 38705727 38705727 A G rs142065001 DNAH8 Synonymous SNV V148V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.276 162738 chr19 47112207 47112207 C T rs35617141 CALM3 Synonymous SNV D94D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.78 162739 chr19 47124579 47124579 C T rs2229130 PTGIR Synonymous SNV T373T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 12.78 162740 chr16 29755736 29755736 G A rs746738252 C16orf54 Synonymous SNV S179S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.702 162741 chr19 47124742 47124742 G C rs28590598 PTGIR Nonsynonymous SNV S319W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 23.2 162742 chr1 159410123 159410123 G A rs760810730 OR10J1 Nonsynonymous SNV R181H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 162743 chr16 30594709 30594718 TTTTTGTTTT - rs535168451 ZNF785 K128Rfs*28 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 162744 chr16 30615817 30615817 G A ZNF689 Nonsynonymous SNV S424L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 30 162745 chr16 30671164 30671166 GAG - rs754350112 FBRS E115del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 162746 chr1 160209874 160209885 CTCTTCTTCCTC - rs199748027 DCAF8 E109_E112del 0.007 0.008 0.007 4 8 3 0.01 2 0 0 0 1 162747 chr1 160917767 160917767 G A rs750602994 ITLN2 Synonymous SNV A259A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.437 162748 chr16 325056 325056 C A RGS11 Nonsynonymous SNV V80L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 162749 chr15 70349951 70349951 C T rs919181494 TLE3 Synonymous SNV A301A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 162750 chr6 43174057 43174065 AGGAGGAAG - rs542758187 CUL9 E1675Rfs*104 0 0 0 1 0 0 0.003 0 0 0 0 0 162751 chr15 59172216 59172216 T A SLTM Synonymous SNV G1011G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.461 162752 chr15 72767214 72767214 - GGCGGCGGC ARIH1 G90_P91insGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 162753 chr16 56899184 56899184 G C rs147200024 SLC12A3 Nonsynonymous SNV A13P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.044 162754 chr16 56906568 56906568 C T rs142679083 SLC12A3 Nonsynonymous SNV A322V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.74 162755 chr6 46988476 46988476 G A rs115889915 ADGRF1 Nonsynonymous SNV T201I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.53 162756 chr12 57180994 57180994 G A rs370297301 HSD17B6 Synonymous SNV S274S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.877 162757 chr16 58550386 58550386 G A rs147467868 SETD6 Nonsynonymous SNV E161K 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 16.53 162758 chr19 50775117 50775117 G A rs776133741 MYH14 Synonymous SNV L1020L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.991 162759 chr6 51907901 51907901 G A rs139815340 PKHD1 Synonymous SNV T951T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.971 162760 chr17 18202935 18202935 T C rs776131880 TOP3A Nonsynonymous SNV T215A 0.004 0 0 0 5 0 0 0 0 0 0 0 23.4 162761 chr15 78921385 78921385 C T rs576926309 CHRNB4 Nonsynonymous SNV R421Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.337 162762 chr19 51220094 51220094 C T SHANK1 Nonsynonymous SNV S28N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 162763 chr16 50338417 50338417 C T rs567522816 ADCY7 Synonymous SNV S505S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 162764 chr16 69726832 69726832 A G rs779806445 NFAT5 Nonsynonymous SNV N810S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 162765 chr15 83527843 83527843 G A rs370161333 HOMER2 Synonymous SNV A144A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.584 162766 chr1 176734813 176734813 G C rs771599933 PAPPA2 Nonsynonymous SNV R1388P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 162767 chr12 7064037 7064037 G A rs200355447 PTPN6 Synonymous SNV T132T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.2 162768 chr6 80406266 80406266 C T rs61761897 SH3BGRL2 Nonsynonymous SNV P99L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 162769 chr6 83840023 83840023 A T rs142431375 DOP1A Nonsynonymous SNV L832F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.401 162770 chr12 72425389 72425389 A G TPH2 Nonsynonymous SNV I463V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.88 162771 chr12 7249349 7249349 G A rs139459588 C1RL Nonsynonymous SNV R326C 0.002 0 0 6 2 0 0.015 0 0 0 0 0 19.89 162772 chr16 67859095 67859095 G A rs202103256 TSNAXIP1 Nonsynonymous SNV R157Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 22.9 162773 chr16 68011591 68011591 A G rs140582991 DPEP3 Synonymous SNV L300L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.026 162774 chr17 3495607 3495607 G A rs200164496 TRPV1 Nonsynonymous SNV A13V 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.142 162775 chr17 26711439 26711439 A G SARM1 Nonsynonymous SNV T384A 0.003 0 0 0 4 0 0 0 0 0 0 0 15.53 162776 chr15 89401730 89401730 C T rs572903055 ACAN Nonsynonymous SNV P1972S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 162777 chr19 53345013 53345013 T C rs761215426 ZNF468 Synonymous SNV Q178Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.007 162778 chr17 32614672 32614672 A C rs34262946 CCL11 Nonsynonymous SNV K86T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 8.922 162779 chr16 722958 722958 C T rs55977091 RHOT2 Nonsynonymous SNV L469F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.9 162780 chr16 726238 726238 - GGAGCC rs773133284 RHBDL1 P50_D51insEP 0.002 0 0 0 2 0 0 0 0 0 0 0 162781 chr17 39215937 39215937 G T rs188648795 KRTAP2-3 Synonymous SNV T122T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.004 162782 chr19 55525508 55525508 G A rs2886416 GP6 Nonsynonymous SNV T602M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 21.5 162783 chr19 55593534 55593534 G C EPS8L1 Nonsynonymous SNV A199P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.7 162784 chr17 39643230 39643230 G A rs143420385 KRT36 Nonsynonymous SNV R394C 0.003 0 0 0 3 0 0 0 0 0 0 0 32 162785 chr1 205890895 205890895 G A rs35339136 SLC26A9 Synonymous SNV N618N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.524 162786 chr1 207131863 207131863 A G rs778350262 FCAMR X578R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.589 162787 chr1 208200598 208200598 A G rs540998412 PLXNA2 Nonsynonymous SNV I1892T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.64 162788 chr19 56114241 56114241 G A rs200123881 ZNF524 Nonsynonymous SNV E255K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.08 162789 chr17 38711388 38711388 C A rs760394768 CCR7 Nonsynonymous SNV R185L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 162790 chr16 1557702 1557702 C T rs140286302 TELO2 Nonsynonymous SNV R798W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.3 162791 chr17 40257980 40257980 G A DHX58 Nonsynonymous SNV A342V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 162792 chr13 111137368 111137368 G A rs148455649 COL4A2 Nonsynonymous SNV A1007T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 15.51 162793 chr1 211652466 211652466 C T rs74782684 RD3 Nonsynonymous SNV R167K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.26 162794 chr6 138734169 138734169 A C rs14812 HEBP2 Nonsynonymous SNV E202A 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 162795 chr19 57327717 57327717 G A rs774944069 PEG3 Nonsynonymous SNV S543L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.86 162796 chr19 57640475 57640475 G C USP29 Nonsynonymous SNV Q144H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.16 162797 chr19 57723805 57723805 G A rs202199872 ZNF264 Nonsynonymous SNV R447K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 162798 chr13 23907841 23907841 T A SACS Nonsynonymous SNV N3245Y 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 162799 chr17 3953115 3953115 C G ZZEF1 Nonsynonymous SNV G1968R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 162800 chr16 2140239 2140239 G C MIR1225 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.393 162801 chr13 28367956 28367956 C T rs3742111 GSX1 Synonymous SNV G222G 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 14.32 162802 chr19 58198231 58198231 C T rs150173912 ZNF551 Synonymous SNV H168H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.03 162803 chr17 40837243 40837243 A C rs775008173 CNTNAP1 Nonsynonymous SNV I174L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 162804 chr17 41174211 41174219 GGCGGCGGC - rs749281551 VAT1 A41_A43del 0.001 0 0 0 1 0 0 0 0 0 0 0 162805 chr1 228399895 228399895 G A OBSCN Synonymous SNV P137P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.462 162806 chr17 19750183 19750183 C G ULK2 Synonymous SNV L112L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 162807 chr19 6312483 6312483 C T rs371291557 ACER1 Nonsynonymous SNV G41R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 162808 chr17 42429816 42429816 C T rs140070738 GRN Synonymous SNV F507F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.24 162809 chr16 30750323 30750323 A G rs779147140 SRCAP Nonsynonymous SNV T2988A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.577 162810 chr1 228496075 228496075 A C rs375644334 OBSCN Nonsynonymous SNV T4244P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23.1 162811 chr17 42992568 42992568 G A rs552590923 GFAP Nonsynonymous SNV A96V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 162812 chr6 160517472 160517472 C T rs8191933 IGF2R Synonymous SNV D2219D 0.003 0.003 0.01 4 4 1 0.01 3 0 0 0 0 Benign 0.765 162813 chr6 163235205 163235205 A G rs747581091 PACRG Synonymous SNV A61A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.51 162814 chr16 31927282 31927282 C T rs775124056 ZNF267 Nonsynonymous SNV T571I 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 162815 chr17 5456771 5456771 G C rs201036847 NLRP1 Nonsynonymous SNV S821R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.8 162816 chr1 230804473 230804473 G A COG2 Synonymous SNV Q179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.534 162817 chr17 12666976 12666976 C G rs113878045 LOC100128006 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.953 162818 chr16 22316496 22316496 A G rs754217445 POLR3E Nonsynonymous SNV K19R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.6 162819 chr16 338145 338145 C T rs142888154 AXIN1 Nonsynonymous SNV G820S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 30 162820 chr17 58236607 58236607 A C rs150432787 CA4 Nonsynonymous SNV Q254P 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.422 162821 chr17 58342828 58342828 T C rs143667322 USP32 Nonsynonymous SNV H312R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 7.616 162822 chr17 59489746 59489746 A G rs376676197 C17orf82 0.005 0 0 0 6 0 0 0 0 0 0 0 2.007 162823 chr1 236347168 236347168 G A rs147708340 GPR137B Nonsynonymous SNV V310I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 162824 chr16 427084 427084 C T rs150398670 PGAP6 Synonymous SNV P196P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 162825 chr17 48267715 48267715 G A rs369699409 COL1A1 Synonymous SNV P808P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.5 162826 chr16 46633856 46633856 T C rs907424955 SHCBP1 Nonsynonymous SNV D333G 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 162827 chr16 48151225 48151225 C T rs370615363 ABCC12 Nonsynonymous SNV V578I 0.003 0 0 0 4 0 0 0 0 0 0 0 25.5 162828 chr1 23697630 23697630 A C ZNF436-AS1, ZNF436-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 8.59 162829 chr1 23697635 23697635 T G ZNF436-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 13.78 162830 chr13 78208580 78208580 G A rs769294817 SCEL Synonymous SNV E544E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.92 162831 chr17 62533721 62533725 ACATT - rs781806075 CEP95 Stop gain L601* 0.002 0 0 0 2 0 0 0 0 0 0 0 162832 chr17 18069745 18069745 C T rs753003386 MYO15A Synonymous SNV D3286D 0.003 0 0 0 3 0 0 0 0 0 0 0 17.27 162833 chr7 1488265 1488265 G A rs149008569 MICALL2 Nonsynonymous SNV R109C 0.006 0.008 0.007 1 7 3 0.003 2 0 0 0 0 Benign 20.9 162834 chr7 1784547 1784547 G A rs77210571 ELFN1 Synonymous SNV S105S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 0.511 162835 chr19 9005656 9005656 T C rs752048446 MUC16 Synonymous SNV L13250L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.011 162836 chr7 3991502 3991502 C T rs117824452 SDK1 Nonsynonymous SNV P367L 0.01 0.005 0.003 4 12 2 0.01 1 0 0 0 0 13.08 162837 chr17 34923518 34923518 G A rs562805174 GGNBP2 Nonsynonymous SNV V182I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 162838 chr17 35378265 35378265 A G AATF Nonsynonymous SNV K500R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.9 162839 chr14 103180909 103180909 G A rs768496502 RCOR1 Synonymous SNV T336T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.5 162840 chr17 67282046 67282046 T C rs145279181 ABCA5 Synonymous SNV K755K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 1.415 162841 chr7 6194000 6194000 A G USP42 Nonsynonymous SNV K939E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 22.7 162842 chr17 6901831 6901831 G T rs148560839 ALOX12 Nonsynonymous SNV R114L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 162843 chr14 104506642 104506642 G T rs182776644 TDRD9 Nonsynonymous SNV V1276F 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 26 162844 chr14 104518351 104518351 C T rs148705648 TDRD9 Nonsynonymous SNV R1361C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.29 162845 chr7 6660789 6660789 A T ZNF853 Nonsynonymous SNV E41V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 162846 chr17 56682489 56682489 C T rs780108222 TEX14 Nonsynonymous SNV E402K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 162847 chr1 248020842 248020842 G A rs779061825 TRIM58 Synonymous SNV R98R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.508 162848 chr17 59479075 59479075 C T rs143073619 TBX2 Synonymous SNV V142V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 162849 chr17 7126484 7126484 G A ACADVL Synonymous SNV G348G 0.003 0 0 0 3 0 0 0 0 0 0 0 7.921 162850 chr17 71361515 71361515 C T rs138111780 SDK2 Synonymous SNV S1729S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 162851 chr14 21161931 21161931 A G rs121909541 ANG Nonsynonymous SNV I70V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.133 162852 chr17 65900001 65900001 A G rs373955177 BPTF Synonymous SNV T880T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.978 162853 chr17 6663822 6663822 G A rs148910934 XAF1 Nonsynonymous SNV G67R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 162854 chr1 27100149 27100149 C T rs375663064 ARID1A Synonymous SNV D1315D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.899 162855 chr16 735686 735686 G A rs770462292 WDR24 Synonymous SNV H557H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.115 162856 chr1 28905113 28905113 A G rs373710021 SNHG12 0 0 0.003 0 0 0 0 1 0 0 0 0 6.358 162857 chr1 2980793 2980793 T C rs12563622 PRDM16-DT 0 0 0.051 0 0 0 0 15 0 0 1 0 4.864 162858 chr1 2980834 2980834 G A rs12562250 PRDM16-DT 0 0 0.01 0 0 0 0 3 0 0 0 0 6.68 162859 chr17 35345942 35345942 G A AATF Nonsynonymous SNV D358N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 22.1 162860 chr17 7463436 7463436 A G rs774834947 TNFSF12-TNFSF13, TNFSF13 Synonymous SNV G125G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.07 162861 chr1 32265635 32265635 C T rs187353180 SPOCD1 Synonymous SNV S63S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.147 162862 chr17 3592809 3592809 C T rs574503690 P2RX5 Nonsynonymous SNV D220N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.016 162863 chr17 7193621 7193621 T A rs116909248 YBX2 Synonymous SNV R231R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.474 162864 chr16 67876755 67876755 G T rs754275294 THAP11 Nonsynonymous SNV A100S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 20.8 162865 chr1 34023480 34023480 C T rs143575896 CSMD2 Nonsynonymous SNV R2866H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 162866 chr17 72368523 72368523 G T rs200532809 GPR142 Nonsynonymous SNV R303S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 162867 chr17 72436507 72436507 G A rs199736709 GPRC5C Nonsynonymous SNV V198M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 162868 chr17 76476850 76476850 C T rs897673313 DNAH17 Synonymous SNV L2556L 0.002 0 0 0 2 0 0 0 0 0 0 0 11 162869 chr1 37324817 37324817 G C GRIK3 Nonsynonymous SNV I332M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.896 162870 chr17 38552609 38552609 C A rs771454888 TOP2A Nonsynonymous SNV G1216C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 29.2 162871 chr17 38552674 38552674 G C rs202201081 TOP2A Nonsynonymous SNV P1194R 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 13.56 162872 chr17 73259575 73259575 G T MRPS7 Nonsynonymous SNV G165V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 162873 chr7 48356850 48356850 T A rs191000417 ABCA13 Nonsynonymous SNV L3319Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 162874 chr17 73751159 73751159 G A rs573432171 ITGB4 Nonsynonymous SNV G1458R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 162875 chr1 1274667 1274667 G A DVL1 Stop gain Q403X 0.002 0.003 0 0 2 1 0 0 1 0 0 0 7.699 162876 chr17 4461715 4461715 G A rs149059426 GGT6 Nonsynonymous SNV R131W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.78 162877 chr17 74084966 74084966 G A rs139326064 EXOC7 Synonymous SNV I321I 0.003 0 0 0 4 0 0 0 0 0 0 0 14.04 162878 chr7 64292532 64292532 G A ZNF138 Synonymous SNV E157E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.946 162879 chr17 39316528 39316528 G A rs74572864 KRTAP4-4 Nonsynonymous SNV T139I 0.001 0 0 4 1 0 0.01 0 0 0 0 0 1.871 162880 chr17 39323877 39323877 G A rs201570374 KRTAP4-3 Nonsynonymous SNV T183I 0.003 0 0 0 3 0 0 0 0 0 0 0 6.44 162881 chr17 79093198 79093198 C A rs377602747 AATK Nonsynonymous SNV D1253Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.6 162882 chr17 46053257 46053257 A G rs779893428 CDK5RAP3 Star tloss M1? 0.004 0 0 2 5 0 0.005 0 0 0 0 0 15.48 162883 chr17 39619263 39619263 G A rs201500915 KRT32 Nonsynonymous SNV R346C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 162884 chr17 46703516 46703516 G A rs375090647 HOXB9 Nonsynonymous SNV P39L 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 162885 chr1 49128852 49128852 C T rs373001734 AGBL4 Synonymous SNV G244G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.26 162886 chr17 76502807 76502807 C T rs76449350 DNAH17 Nonsynonymous SNV V1600M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 23 162887 chr7 77010661 77010661 T C rs17152629 GSAP Synonymous SNV Q160Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.007 162888 chr17 79990299 79990299 G A rs147951537 RAC3 Synonymous SNV T24T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 18.39 162889 chr16 83065794 83065794 G C rs183971768 CDH13 Nonsynonymous SNV G113R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 23.4 162890 chr17 80400169 80400169 G A rs769674654 HEXD Nonsynonymous SNV R365Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.53 162891 chr17 4800570 4800570 C G MINK1 Nonsynonymous SNV I1292M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.96 162892 chr17 7755904 7755904 C T rs143489614 KDM6B Synonymous SNV N1520N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 162893 chr17 8092834 8092834 G A BORCS6 Nonsynonymous SNV R209C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 162894 chr1 55119399 55119399 C T MROH7 Nonsynonymous SNV T267I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.88 162895 chr17 8138427 8138427 C T rs145192682 CTC1 Synonymous SNV Q461Q 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Benign 11.77 162896 chr1 55167782 55167782 C T rs181655955 MROH7 Nonsynonymous SNV S620F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 162897 chr7 90001514 90001514 T C rs150172644 GTPBP10 Synonymous SNV H91H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.282 162898 chr17 41738586 41738586 T G rs146876154 MEOX1 Nonsynonymous SNV N106T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.004 162899 chr17 4893529 4893529 G C rs199735168 INCA1 Nonsynonymous SNV P26A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 162900 chr17 42114453 42114453 C T rs574191857 LSM12 Synonymous SNV L171L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.04 162901 chr1 59250953 59250953 A G LINC01135 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 162902 chr17 51900478 51900478 G C KIF2B Nonsynonymous SNV E28D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.001 162903 chr17 42284951 42284951 A G rs113823176 UBTF Synonymous SNV D643D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.792 162904 chr17 79234179 79234179 C T rs745442355 SLC38A10 Nonsynonymous SNV G383S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 162905 chr7 99077295 99077295 G A rs371539662 ZNF789 Synonymous SNV S12S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 162906 chr17 43333138 43333138 C T rs141019092 SPATA32 Synonymous SNV T137T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.25 162907 chr18 198060 198060 C T rs931189586 USP14 Nonsynonymous SNV S195F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 162908 chr7 100491878 100491878 T C rs756929094 ACHE 0 0 0 1 0 0 0.003 0 0 0 0 0 5.249 162909 chr1 6589220 6589220 A G rs775472654 NOL9 Synonymous SNV N553N 0 0 0.007 0 0 0 0 2 0 0 0 0 2.502 162910 chr17 45369788 45369788 G A rs13306487 ITGB3 Nonsynonymous SNV R515Q 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.24 162911 chr17 1538692 1538692 C T rs35455643 SCARF1 Nonsynonymous SNV R618K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22 162912 chr1 6649207 6649207 G A rs369046270 ZBTB48 Nonsynonymous SNV G668S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 162913 chr17 80544988 80544988 C A rs137949572 FOXK2 Synonymous SNV A542A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.713 162914 chr14 69806313 69806313 G A rs138593134 GALNT16 Synonymous SNV S388S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 162915 chr17 1553003 1553003 G T rs9896488 RILP Synonymous SNV A32A 0.004 0 0.01 0 5 0 0 3 0 0 1 0 12.15 162916 chr17 59946708 59946708 C T rs369648189 INTS2 Nonsynonymous SNV A1022T 0.005 0 0 0 6 0 0 0 0 0 0 0 27 162917 chr17 46627948 46627948 G A rs201716414 HOXB3 Synonymous SNV G348G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.249 162918 chr17 60837210 60837210 C T rs140159918 MARCHF10 Nonsynonymous SNV S123N 0.007 0 0 0 8 0 0 0 0 0 0 0 13.1 162919 chr17 17394718 17394718 A T rs137951481 MED9 Nonsynonymous SNV Q117L 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 23.2 162920 chr1 7724063 7724063 G A rs749008073 CAMTA1 Nonsynonymous SNV D456N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 162921 chr17 6350874 6350874 G A rs146863338 PIMREG Nonsynonymous SNV S129N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.133 162922 chr1 82432242 82432242 C T rs150187776 ADGRL2 Synonymous SNV S749S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.46 162923 chr1 84610070 84610070 G T PRKACB Nonsynonymous SNV C9F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.954 162924 chr17 64685084 64685084 C T rs150522438 PRKCA Synonymous SNV N279N 0.007 0.005 0.007 1 8 2 0.003 2 0 0 0 0 Benign 13.07 162925 chr18 12999533 12999533 G T rs199511750 CEP192 Nonsynonymous SNV G37V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 162926 chr18 21513866 21513866 G A rs141472847 LAMA3 Synonymous SNV R1278R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.214 162927 chr1 16071019 16071019 T C rs987404344 TMEM82 Nonsynonymous SNV M234T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 162928 chr17 5329307 5329307 C T rs142664022 RPAIN Synonymous SNV S110S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.33 162929 chr17 5347788 5347788 G A rs75426953 DHX33 Nonsynonymous SNV R448C 0.006 0.01 0.003 3 7 4 0.008 1 0 0 0 0 35 162930 chr14 90485730 90485730 G A rs747349186 TDP1 Nonsynonymous SNV E538K 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 34 162931 chr17 17070194 17070194 G C rs61741721 MPRIP Nonsynonymous SNV E1795D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.189 162932 chr14 90778810 90778810 G A NRDE2 Nonsynonymous SNV T162I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.32 162933 chr14 91779658 91779658 C A rs778652570 CCDC88C Nonsynonymous SNV K834N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.6 162934 chr1 16462264 16462264 C T rs55700006 EPHA2 Synonymous SNV E384E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 14.06 162935 chr14 93118230 93118230 G A rs148556236 RIN3 Nonsynonymous SNV R204H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23 162936 chr18 6032122 6032122 A G rs370740355 L3MBTL4 Nonsynonymous SNV C533R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.592 162937 chr18 43492274 43492274 G A rs201983775 EPG5 Nonsynonymous SNV R1322C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 162938 chr17 72874500 72874500 A G rs375749517 FADS6 Nonsynonymous SNV M338T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 162939 chr18 61587072 61587072 T G rs750763964 SERPINB10 Synonymous SNV V141V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.95 162940 chr18 44774472 44774472 G A rs756849246 SKOR2 Synonymous SNV G361G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.903 162941 chr14 96756808 96756808 G A rs757487463 ATG2B Synonymous SNV L1941L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.25 162942 chr17 73036232 73036232 - GGCACGGGAACCTTCAGCGCATTAAACTACAAACACAAG ATP5PD Stop gain E83_N160delinsLC 0.003 0 0 1 3 0 0.003 0 0 0 0 0 162943 chr18 47463690 47463690 C T rs533990456 MYO5B Synonymous SNV S610S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.581 162944 chr17 73236421 73236421 A C GGA3 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.3 162945 chr17 73484845 73484845 C T rs138567165 TMEM94 Synonymous SNV D216D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.8 162946 chr17 6511741 6511741 T C rs61735441 KIAA0753 Nonsynonymous SNV K287E 0.007 0 0 1 8 0 0.003 0 0 0 0 0 Benign/Likely benign 17.71 162947 chr7 128632106 128632106 C A TNPO3 Nonsynonymous SNV E435D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.95 162948 chr20 20071585 20071585 G A rs146792381 CFAP61 Nonsynonymous SNV A222T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.3 162949 chr17 34959002 34959002 T G rs200073578 MRM1 Nonsynonymous SNV V188G 0.003 0 0 0 4 0 0 0 0 0 0 0 29 162950 chr20 23065036 23065036 G C rs374027111 CD93 Synonymous SNV A598A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.61 162951 chr20 25259038 25259038 G A rs759596166 PYGB Synonymous SNV K313K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 162952 chr17 74011053 74011053 G C EVPL Synonymous SNV R744R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.04 162953 chr17 74046599 74046599 G A rs148814451 SRP68 Synonymous SNV S291S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.83 162954 chr20 3007828 3007828 C T rs145212464 PTPRA Synonymous SNV N581N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 162955 chr20 30366724 30366724 G A rs772494085 TPX2 Nonsynonymous SNV V331I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 162956 chr17 74474902 74474902 C T rs34814954 RHBDF2 Nonsynonymous SNV A220T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 23.4 162957 chr20 31023041 31023041 T C rs144841799 ASXL1 Synonymous SNV N781N 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.606 162958 chr15 33149267 33149267 T C rs769997545 FMN1 Nonsynonymous SNV K1070E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 162959 chr20 32211049 32211049 G A rs752739929 CBFA2T2 Synonymous SNV S213S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.603 162960 chr19 10395141 10395141 G A rs146134321 ICAM1 Nonsynonymous SNV V330M 0.006 0.003 0.01 5 7 1 0.013 3 0 0 0 0 Likely benign 23.3 162961 chr18 6887155 6887155 G A ARHGAP28 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 162962 chr17 76219702 76219702 C T BIRC5 Synonymous SNV A126A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.4 162963 chr17 7636497 7636497 G A rs117035657 DNAH2 Synonymous SNV R164R 0.009 0 0 1 10 0 0.003 0 0 0 0 0 Likely benign 7.635 162964 chr20 33875698 33875698 C A rs138625315 FAM83C Nonsynonymous SNV R295L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.3 162965 chr20 35414973 35414973 A G rs79830506 SOGA1 Nonsynonymous SNV I1634T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.47 162966 chr15 40544501 40544501 G C C15orf56 Synonymous SNV T157T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.701 162967 chr15 40750914 40750914 G A rs368576045 BAHD1 Nonsynonymous SNV R84Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14 162968 chr17 7750177 7750177 - ACCACCACCACCACC KDM6B P264_L265insPPPPP 0.002 0 0 0 2 0 0 0 1 0 0 0 162969 chr1 193051787 193051787 G C rs752004555 RO60 Nonsynonymous SNV E196D 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 162970 chr17 77769121 77769138 ATCCCGCTCCCGGTCCCT - rs564277970 CBX8 D157_R162del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 162971 chr1 19632575 19632575 G A rs190445327 AKR7A2 Synonymous SNV G250G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.898 162972 chr17 73813432 73813432 G C rs754393636 UNK Nonsynonymous SNV G377A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.1 162973 chr19 1003240 1003240 C T rs201484790 GRIN3B Nonsynonymous SNV R180C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.43 162974 chr17 74729604 74729604 G T rs755096860 METTL23 Nonsynonymous SNV A70S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22 162975 chr17 74729605 74729605 C T rs767725326 METTL23 Nonsynonymous SNV A70V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 162976 chr16 1435292 1435292 C G UNKL Nonsynonymous SNV S394T 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 12.67 162977 chr17 76120081 76120081 G A rs147648259 TMC6 Synonymous SNV T357T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 9.964 162978 chr19 15221157 15221157 G A rs1002959192 SYDE1 Nonsynonymous SNV R291Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.22 162979 chr17 4349436 4349436 G A rs143246776 SPNS3 Nonsynonymous SNV V39M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.78 162980 chr20 55100054 55100054 C T rs2019515 FAM209A Nonsynonymous SNV L64F 0.003 0 0.01 0 3 0 0 3 0 0 0 0 10.41 162981 chr20 55929835 55929835 C T RAE1 Nonsynonymous SNV P53L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 162982 chr1 203668629 203668629 G A ATP2B4 Nonsynonymous SNV A145T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.65 162983 chr17 80772746 80772746 G A rs367985432 TBCD Synonymous SNV G418G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.08 162984 chr1 204966428 204966428 C T rs2802808 NFASC Synonymous SNV I971I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.98 162985 chr17 4619903 4619903 C A rs200424489 ARRB2 Synonymous SNV T104T 0.004 0 0 0 5 0 0 0 0 0 0 0 14.54 162986 chr19 15852989 15852989 A G rs778811469 OR10H3 Nonsynonymous SNV K263E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 162987 chr17 4638609 4638609 G A rs61754551 CXCL16 Nonsynonymous SNV R185C 0.003 0 0 0 4 0 0 0 0 0 0 0 17.06 162988 chr19 1235827 1235827 C T rs370057519 CBARP Nonsynonymous SNV V66I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 162989 chr19 1251564 1251564 G A rs61744735 MIDN Synonymous SNV R79R 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 9.462 162990 chr19 16535951 16535951 G C EPS15L1 Synonymous SNV V245V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 162991 chr19 16687039 16687039 T C rs776453499 MED26 Synonymous SNV Q534Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 162992 chr8 10555186 10555186 C T C8orf74 Synonymous SNV L107L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.15 162993 chr17 41606971 41606971 C T ETV4 Synonymous SNV L66L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.43 162994 chr17 79171906 79171906 C T rs375005149 CEP131 Synonymous SNV T493T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.281 162995 chr18 19154034 19154034 C T rs778761086 ESCO1 Synonymous SNV P257P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.951 162996 chr15 63414116 63414116 G A rs34925488 LACTB Nonsynonymous SNV G16R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 17.51 162997 chr20 61525802 61525802 G A rs140972357 DIDO1 Synonymous SNV R845R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 162998 chr15 63414143 63414143 C T rs34297800 LACTB Nonsynonymous SNV R25C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 25.5 162999 chr20 61594664 61594664 C T rs201983911 SLC17A9 Nonsynonymous SNV P223L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.495 163000 chr15 63433800 63433800 G A rs61732054 LACTB Synonymous SNV R480R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 0.044 163001 chr20 61940001 61940001 G T rs369552635 COL20A1 Nonsynonymous SNV D295Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 163002 chr15 65370167 65370167 T C KBTBD13 Synonymous SNV R338R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.029 163003 chr8 20007210 20007210 C T SLC18A1 Nonsynonymous SNV V343I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.169 163004 chr15 65871994 65871994 G A INTS14 Synonymous SNV L358L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.713 163005 chr17 56232870 56232870 C T rs746168074 OR4D1 Nonsynonymous SNV A119V 0.003 0 0 0 4 0 0 0 0 0 0 0 28.2 163006 chr19 17039769 17039769 G T rs143655652 CPAMD8 Nonsynonymous SNV R1043S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.94 163007 chr17 8701941 8701941 A T rs142921860 MFSD6L Synonymous SNV R166R 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 0.004 163008 chr17 59485501 59485501 C G rs61756219 TBX2 Synonymous SNV P591P 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 12.59 163009 chr19 19010523 19010523 C G rs769379786 COPE Nonsynonymous SNV D247H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.6 163010 chr19 17329186 17329186 C T rs201970716 USE1 Synonymous SNV D136D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 163011 chr19 1918272 1918272 A G rs763647846 SCAMP4 Nonsynonymous SNV K51E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 163012 chr19 17369086 17369086 T G USHBP1 Synonymous SNV A321A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.781 163013 chr17 61611393 61611393 G A rs7224716 KCNH6 Synonymous SNV T274T 0.006 0 0 0 7 0 0 0 0 0 0 0 4.348 163014 chr1 225465178 225465178 C T rs561345791 DNAH14 Stop gain R2749X 0.002 0 0 0 2 0 0 0 0 0 0 0 21 163015 chr19 19745475 19745475 G A rs142686681 GMIP Nonsynonymous SNV A613V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 163016 chr15 75336753 75336753 T A rs144990044 PPCDC Synonymous SNV V54V 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 8.423 163017 chr18 44146258 44146258 A T rs755485250 LOXHD1 Nonsynonymous SNV V800E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.8 163018 chr17 63746831 63746831 C T rs144305706 CEP112 Synonymous SNV K58K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.14 163019 chr8 28196805 28196805 G C rs200639514 PNOC Nonsynonymous SNV Q61H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 163020 chr18 21394422 21394422 T G rs189724109 LAMA3 Nonsynonymous SNV L615R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.2 163021 chr17 65936687 65936687 A T BPTF Nonsynonymous SNV Q2131L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.67 163022 chr21 37617533 37617533 C T DOP1B Synonymous SNV S1085S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.268 163023 chr21 37617851 37617851 G A rs141535910 DOP1B Synonymous SNV S1191S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.87 163024 chr17 66902302 66902302 G T rs140010342 ABCA8 Nonsynonymous SNV L721I 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 26.6 163025 chr19 308869 308869 C T rs144035684 MIER2 Synonymous SNV S311S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 163026 chr21 40978040 40978040 A G rs547576651 B3GALT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.853 163027 chr18 29175210 29175210 C A rs121918074 TTR Nonsynonymous SNV H110N 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 163028 chr8 49643972 49643972 C T rs369604770 EFCAB1 Nonsynonymous SNV R50H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 163029 chr8 67356918 67356918 C T rs755948620 ADHFE1 Synonymous SNV S96S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.89 163030 chr19 35250976 35250976 G A rs137997147 ZNF599 Stop gain R244X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 163031 chr8 67356924 67356924 G A rs918447411 ADHFE1 Synonymous SNV V98V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.43 163032 chr15 89424799 89424799 G A rs770601962 HAPLN3 Synonymous SNV N94N 0 0 0 2 0 0 0.005 0 0 0 0 0 5.028 163033 chr21 45938760 45938760 G A rs117630952 TSPEAR-AS2 0 0 0.007 0 0 0 0 2 0 0 0 0 1.167 163034 chr18 47796088 47796088 G C rs764483183 MBD1 Nonsynonymous SNV P548A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 163035 chr19 36234794 36234794 C T rs144545137 U2AF1L4 Nonsynonymous SNV R126Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.86 163036 chr18 47796089 47796089 C T rs201765310 MBD1 Stop gain W547X 0.002 0 0 0 2 0 0 0 0 0 0 0 41 163037 chr21 46326996 46326996 C T rs138303556 ITGB2 Synonymous SNV P54P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.199 163038 chr19 36336603 36336603 C A rs140859903 NPHS1 Synonymous SNV P575P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 21.9 163039 chr21 46687512 46687512 G T POFUT2 Nonsynonymous SNV H377N 0 0 0.003 0 0 0 0 1 0 0 0 0 25 163040 chr15 90335558 90335558 C G rs763661673 ANPEP Synonymous SNV P787P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.89 163041 chr19 31769349 31769349 G A rs146266325 TSHZ3 Synonymous SNV T450T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.056 163042 chr19 33106633 33106633 A G rs142474643 ANKRD27 Synonymous SNV T702T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 163043 chr18 8819030 8819030 C T MTCL1 Nonsynonymous SNV P977S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.997 163044 chr8 99102205 99102205 T C rs953173992 ERICH5 Synonymous SNV Y320Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 163045 chr8 101225571 101225571 C G SPAG1 Nonsynonymous SNV S450R 0 0 0 2 0 0 0.005 0 0 0 0 0 12.88 163046 chr18 56203279 56203279 T C rs36075387 ALPK2 Synonymous SNV Q1380Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.047 163047 chr19 3779173 3779173 C A MATK Nonsynonymous SNV E297D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 163048 chr22 17447036 17447036 C G rs61740195 GAB4 Nonsynonymous SNV E261D 0 0 0.01 0 0 0 0 3 0 0 0 0 2.9 163049 chr1 247263914 247263914 C T rs41311577 ZNF669 Nonsynonymous SNV G300E 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 24.4 163050 chr1 247587783 247587783 G A rs180177471 NLRP3 Synonymous SNV L346L 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 4.251 163051 chr22 19035846 19035846 T C rs73384864 DGCR11 0 0 0.007 0 0 0 0 2 0 0 0 0 0.38 163052 chr22 19130246 19130246 C T rs573691209 ESS2 Synonymous SNV P99P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.25 163053 chr19 38384689 38384689 C T rs116031239 WDR87 Nonsynonymous SNV A552T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 163054 chr22 21134349 21134349 T C rs139434064 SERPIND1 Nonsynonymous SNV I250T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 163055 chr22 21346070 21346070 C T rs559942119 LZTR1 Synonymous SNV D315D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.67 163056 chr19 38893832 38893832 G C rs201469183 FAM98C Synonymous SNV A13A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.19 163057 chr8 123964128 123964128 C T rs200640976 ZHX2 Synonymous SNV S126S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.27 163058 chr18 7011371 7011371 G A rs79497917 LAMA1 Synonymous SNV A1205A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 10.18 163059 chr22 28194932 28194932 - C rs771246945 MN1 Frameshift insertion Q534Afs*26 0.002 0 0.003 0 2 0 0 1 0 0 0 0 163060 chr22 28194933 28194933 - GC MN1 Frameshift insertion Q534Hfs*25 0.002 0 0.003 0 2 0 0 1 0 0 0 0 163061 chr19 39008251 39008251 A G RYR1 Nonsynonymous SNV N3313S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.537 163062 chr19 39516144 39516144 G C rs139767377 FBXO27 Nonsynonymous SNV F253L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 163063 chr19 39826151 39826151 G A rs371794280 GMFG Synonymous SNV C8C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 163064 chr1 31732966 31732966 T C rs375822848 SNRNP40 Nonsynonymous SNV I343V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.12 163065 chr1 32256452 32256452 G A rs200530521 SPOCD1 Nonsynonymous SNV R615C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 163066 chr22 31530073 31530073 C T rs76817205 INPP5J Nonsynonymous SNV L462F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.89 163067 chr8 144671163 144671163 G C rs756325993 EEF1D Synonymous SNV P363P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.61 163068 chr22 31536233 31536233 G C rs2232175 PLA2G3 Synonymous SNV A36A 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 8.669 163069 chr19 10259658 10259658 G A rs375136816 DNMT1 Synonymous SNV D858D 0.004 0 0 2 5 0 0.005 0 0 0 0 0 10.81 163070 chr17 80352300 80352300 C T rs79314916 OGFOD3 Nonsynonymous SNV E315K 0.008 0.008 0.01 4 9 3 0.01 3 0 0 0 0 23.4 163071 chr22 33679277 33679277 C T rs74550830 LARGE1 Synonymous SNV A596A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.54 163072 chr1 35222995 35222995 C T rs116644255 GJB5 Nonsynonymous SNV R22C 0.004 0 0 0 5 0 0 0 0 0 0 0 34 163073 chr22 37332675 37332675 C T rs532471124 CSF2RB Nonsynonymous SNV R517C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.14 163074 chr19 10602387 10602387 G A rs369105238 KEAP1 Synonymous SNV N397N 0.007 0 0 2 8 0 0.005 0 0 0 0 0 0.027 163075 chr1 36938239 36938239 G A rs199991273 CSF3R Nonsynonymous SNV A241V 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 0.039 163076 chr8 145002123 145002123 C G rs201404741 PLEC Nonsynonymous SNV G1086R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.9 163077 chr19 4510493 4510493 C T rs201219499 PLIN4 Nonsynonymous SNV G1160E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 163078 chr19 1119942 1119942 C G SBNO2 Nonsynonymous SNV K353N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 163079 chr1 39879590 39879590 C T rs140506518 KIAA0754 Nonsynonymous SNV P1218L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.65 163080 chr8 145581387 145581387 G A rs141133855 FBXL6 Nonsynonymous SNV T159I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 163081 chr19 44611201 44611201 C T ZNF224 Synonymous SNV S296S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.079 163082 chr22 40661301 40661301 A T rs200804069 TNRC6B Nonsynonymous SNV N356I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 21.6 163083 chr22 41610240 41610240 C T rs112391039 LOC100506544 0 0 0.007 0 0 0 0 2 0 0 0 0 6.577 163084 chr18 13105045 13105045 T G rs377025880 CEP192 Nonsynonymous SNV I2338M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 163085 chr22 42229114 42229114 T C rs563077242 SREBF2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.246 163086 chr18 21107861 21107861 C T rs139487898 RMC1 Nonsynonymous SNV A274V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.818 163087 chr16 3169845 3169845 A C rs200734288 ZNF205 Nonsynonymous SNV D395A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 19.57 163088 chr1 43220563 43220563 T C rs113593896 P3H1 Nonsynonymous SNV D441G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 163089 chr19 17881668 17881668 G A rs147599881 FCHO1 Nonsynonymous SNV R136Q 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 26 163090 chr18 22008872 22008872 A G rs769714027 IMPACT Nonsynonymous SNV I69V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.749 163091 chr9 1051958 1051958 C G DMRT2 Synonymous SNV R115R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.49 163092 chr19 4538612 4538612 C T LRG1 Synonymous SNV L128L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.469 163093 chr18 28587064 28587064 T C DSC3 Nonsynonymous SNV N566S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 163094 chr9 5769326 5769326 A G rs144924840 RIC1 Nonsynonymous SNV Y1165C 0 0 0 2 0 0 0.005 0 0 0 0 0 0.853 163095 chr18 28672114 28672114 C T rs144799937 DSC2 Nonsynonymous SNV E102K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 163096 chr22 46704627 46704627 C G rs149905369 GTSE1 Synonymous SNV L183L 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 7.27 163097 chr18 29046693 29046693 G A rs144565301 DSG3 Nonsynonymous SNV V538I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.03 163098 chr19 46270406 46270406 C T rs148645884 SIX5 Nonsynonymous SNV D271N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.8 163099 chr9 15587692 15587692 G A rs191749178 CCDC171 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 2.463 163100 chr9 15587693 15587693 T G rs537403155 CCDC171 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 4.219 163101 chr19 18648471 18648471 G A rs921661216 FKBP8 Synonymous SNV S294S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.03 163102 chr19 467706 467706 G A rs141231354 ODF3L2 Nonsynonymous SNV R98C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 163103 chr19 46915182 46915182 C T rs11880658 CCDC8 Nonsynonymous SNV G296R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.146 163104 chr9 19521052 19521052 C G SLC24A2 Nonsynonymous SNV E509Q 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 27.4 163105 chr16 4852563 4852563 C A ROGDI Nonsynonymous SNV V4L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.85 163106 chr19 47425401 47425401 C T ARHGAP35 Synonymous SNV L1157L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.917 163107 chr22 50754486 50754486 C T rs369068682 DENND6B Nonsynonymous SNV E224K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 163108 chr22 50905771 50905771 G A rs781458572 SBF1 Nonsynonymous SNV S183L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 163109 chr2 102440413 102440413 G A rs182465148 MAP4K4 Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 163110 chr19 17988795 17988795 G A rs142014480 SLC5A5 Nonsynonymous SNV G288S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Uncertain significance 34 163111 chr1 5937170 5937170 G A rs774737760 NPHP4 Nonsynonymous SNV R422C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.66 163112 chr19 49392882 49392882 C T rs139577147 TULP2 Nonsynonymous SNV R174H 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 8.57 163113 chr19 501682 501682 G A rs201083474 MADCAM1 Synonymous SNV P227P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.871 163114 chr19 50379908 50379908 G A rs186988431 AKT1S1 Nonsynonymous SNV S2F 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.3 163115 chr19 3114999 3114999 C T rs146295413 GNA11 Synonymous SNV D178D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.98 163116 chr16 67236109 67236109 A T rs192034781 ELMO3 Stop gain K395X 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 40 163117 chr16 67976606 67976606 C T rs769485083 LCAT Nonsynonymous SNV R164H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 163118 chr18 56414875 56414875 G A MALT1 Nonsynonymous SNV G748D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.026 163119 chr1 62740129 62740129 G A rs200275217 KANK4 Nonsynonymous SNV S216F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.529 163120 chr19 19162577 19162577 T C rs146836816 ARMC6 Synonymous SNV T117T 0.013 0.018 0.007 1 15 7 0.003 2 1 0 0 0 0.365 163121 chr19 19217081 19217081 C A rs61740506 SLC25A42 Synonymous SNV A128A 0.012 0.016 0 1 14 6 0.003 0 1 0 0 0 18.81 163122 chr19 19231972 19231972 C T rs182808727 TMEM161A Synonymous SNV L203L 0.012 0.016 0 1 14 6 0.003 0 1 0 0 0 11.34 163123 chr1 66058439 66058439 G A rs140347630 LEPR Synonymous SNV V198V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.049 163124 chr1 6638966 6638966 T C TAS1R1 Synonymous SNV S362S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.014 163125 chr1 67648596 67648596 G A rs76418789 IL23R Nonsynonymous SNV G149R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.2 163126 chr19 2227074 2227074 C G DOT1L Synonymous SNV T1518T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.882 163127 chr9 94985724 94985724 A G rs141665010 IARS1 Nonsynonymous SNV C1125R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.08 163128 chr19 2321772 2321772 G C rs200706604 LSM7 Synonymous SNV L73L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.312 163129 chr19 51228284 51228284 C G rs185018002 CLEC11A Nonsynonymous SNV L178V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21.1 163130 chr19 36134440 36134440 G A ETV2 Nonsynonymous SNV G74D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 163131 chr18 46858237 46858237 C A rs769012833 DYM Nonsynonymous SNV A254S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 163132 chr1 76262790 76262790 G T rs773758038 MSH4 Nonsynonymous SNV Q40H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.663 163133 chr1 77685020 77685020 C G PIGK Nonsynonymous SNV G23A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 0.417 163134 chr9 97912265 97912265 C T rs587778327 FANCC Nonsynonymous SNV R209H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.74 163135 chr18 72775684 72775684 G A rs150419019 ZNF407 Nonsynonymous SNV E2003K 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Benign/Likely benign 19.42 163136 chr2 135102621 135102621 C T MGAT5 Synonymous SNV S366S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 163137 chr18 73130804 73130804 C G rs141300758 SMIM21 Nonsynonymous SNV R66T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.589 163138 chr16 74514256 74514256 G A rs138266921 GLG1 Synonymous SNV D559D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.74 163139 chr19 52496895 52496895 A G ZNF615 Synonymous SNV H483H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.846 163140 chr19 37006090 37006090 A G ZNF260 Synonymous SNV H17H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.407 163141 chr18 76754477 76754477 - GCC SALL3 C829delinsWP 0.002 0 0 0 2 0 0 0 0 0 0 0 163142 chr2 147345425 147345425 T A rs3814364 PABPC1P2 0 0 0.065 0 0 0 0 19 0 0 1 0 9.92 163143 chr19 52942416 52942417 AT - rs757412681 ZNF534 H540Qfs*13 0.005 0.003 0 0 6 1 0 0 0 0 0 0 163144 chr19 33457294 33457294 T C rs760075214 CEP89 Nonsynonymous SNV S40G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 163145 chr19 52468675 52468675 G A rs761888276 ZNF350 Nonsynonymous SNV T344M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.8 163146 chr9 111617425 111617425 C A rs772193151 ACTL7B Synonymous SNV A262A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.204 163147 chr19 53678696 53678696 A T ZNF665 0.002 0 0 0 2 0 0 0 0 0 0 0 13.68 163148 chr19 35655114 35655114 C T rs149030515 FXYD5 Synonymous SNV D85D 0.003 0 0 0 4 0 0 0 0 0 0 0 11.76 163149 chr9 112963459 112963459 A G rs78835206 C9orf152 Synonymous SNV N163N 0.001 0.003 0.007 1 1 1 0.003 2 0 0 1 0 0.019 163150 chr9 113276274 113276274 G A rs147751217 SVEP1 Synonymous SNV D359D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.837 163151 chr2 162088034 162088034 C T rs2229759 TANK Nonsynonymous SNV P358L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.4 163152 chr2 162360863 162360863 C G rs111698321 AHCTF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.82 163153 chr2 162360874 162360874 G C rs113711566 AHCTF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.96 163154 chr2 162361610 162361610 T C rs111428891 AHCTF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.895 163155 chr2 162363697 162363697 T A rs113567366 AHCTF1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.982 163156 chr19 3651960 3651960 G A rs146890276 PIP5K1C Nonsynonymous SNV R331C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.1 163157 chr2 164467487 164467487 T A rs2231903 FIGN Synonymous SNV L274L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 2.445 163158 chr2 165365306 165365306 T G rs148544083 GRB14 Synonymous SNV S204S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.047 163159 chr16 85697118 85697118 C T rs746495600 GSE1 Nonsynonymous SNV R744C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 35 163160 chr1 93202061 93202061 T C EVI5 Nonsynonymous SNV T59A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 163161 chr1 9324331 9324331 G A rs112274890 H6PD Synonymous SNV S604S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.137 163162 chr19 41251091 41251091 G A rs562463349 C19orf54 Synonymous SNV D112D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.52 163163 chr2 170134344 170134344 C T rs974392861 LRP2 Synonymous SNV G561G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 163164 chr1 98293684 98293684 G A DPYD Synonymous SNV L73L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.51 163165 chr19 38028540 38028540 A G rs373734998 ZNF793 Nonsynonymous SNV N327S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 163166 chr2 171822583 171822583 A C rs762866384 GORASP2 Synonymous SNV P366P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 163167 chr9 124536561 124536561 A G rs143836788 DAB2IP Nonsynonymous SNV N873S 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 8.756 163168 chr2 177053859 177053859 G A rs369174324 HOXD1 Synonymous SNV G110G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 163169 chr16 88793246 88793246 G A rs746570281 PIEZO1 Synonymous SNV A1192A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.33 163170 chr19 4333746 4333746 C T rs367856413 STAP2 Nonsynonymous SNV R81H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 163171 chr16 88870270 88870270 G A CDT1 Nonsynonymous SNV A11T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.25 163172 chr19 1244148 1244148 C T rs200973446 ATP5F1D Synonymous SNV A116A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.19 163173 chr19 1255563 1255563 C T rs61742309 MIDN Synonymous SNV H333H 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 17.17 163174 chr19 39006731 39006731 C T RYR1 Nonsynonymous SNV R3187W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 163175 chr2 179460425 179460425 T A rs201541213 TTN Nonsynonymous SNV Y10154F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 163176 chr2 179577895 179577895 T C TTN Nonsynonymous SNV E7745G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 163177 chr19 55873865 55873865 G C rs778545385 FAM71E2 Nonsynonymous SNV I104M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 163178 chr2 179580264 179580264 T C rs200355367 TTN Nonsynonymous SNV N7382S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.97 163179 chr9 127619685 127619685 C T rs779097587 WDR38 Synonymous SNV L222L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.71 163180 chr2 179588604 179588604 G A rs727505031 TTN Nonsynonymous SNV R5884C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 163181 chr19 56599467 56599467 G T ZNF787 Synonymous SNV G358G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.108 163182 chr19 56703353 56703353 C T rs201505305 ZSCAN5B Nonsynonymous SNV A152T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.402 163183 chr17 10399359 10399359 G A rs150177053 MYH1 Nonsynonymous SNV R1693W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 163184 chr9 131566380 131566380 G A TBC1D13 Synonymous SNV V300V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.39 163185 chr2 186665773 186665773 G A rs142635613 FSIP2 Nonsynonymous SNV V3914I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.125 163186 chr9 133760618 133760618 G A rs769473644 ABL1 Nonsynonymous SNV V981I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 163187 chr17 16256469 16256474 CGGCGG - rs753919797 CENPV P93_P94del 0 0 0 1 0 0 0.003 0 0 0 0 0 163188 chr2 192711230 192711230 C A rs142766197 CAVIN2 Nonsynonymous SNV R141L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 163189 chr2 197208397 197208397 C T rs61741962 HECW2 Synonymous SNV G128G 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 14.92 163190 chr2 197954678 197954678 T C rs34442753 ANKRD44 Synonymous SNV S393S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.711 163191 chr19 1460245 1460245 C A rs375267656 APC2 Nonsynonymous SNV P456T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 163192 chr19 45898991 45898991 G C rs748030234 PPP1R13L Nonsynonymous SNV P353A 0.005 0 0 0 6 0 0 0 1 0 0 0 13.26 163193 chr19 58491631 58491631 A C rs773833989 ZNF606 Synonymous SNV L49L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 163194 chr19 7437915 7437915 G A rs984814676 ARHGEF18 Nonsynonymous SNV R78H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.5 163195 chr20 36641366 36641366 C T rs146011114 TTI1 Nonsynonymous SNV D285N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.13 163196 chr2 206587398 206587398 C T rs771737866 NRP2 Synonymous SNV Y210Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.99 163197 chr9 137658896 137658896 C A rs150993138 COL5A1 Synonymous SNV A728A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.23 163198 chr19 5918560 5918560 G A RANBP3 Nonsynonymous SNV R401C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 163199 chr20 39974543 39974543 C T rs199630486 LPIN3 Synonymous SNV L34L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.47 163200 chr20 41385177 41385177 C T rs201332786 PTPRT Nonsynonymous SNV V262I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 21.8 163201 chr19 1828340 1828340 C T rs770593624 REXO1 Nonsynonymous SNV D150N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.642 163202 chr19 45567745 45567745 - TCCCGC rs745561616 CLASRP R368_R369insSR 0.002 0 0 2 2 0 0.005 0 0 0 0 0 163203 chr2 215876849 215876849 G A rs374169066 ABCA12 Nonsynonymous SNV P338L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 163204 chr19 46320061 46320061 G T rs1002087292 SYMPK Nonsynonymous SNV H1085N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 163205 chr2 219254672 219254672 T C rs145536242 SLC11A1 Nonsynonymous SNV L292P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 163206 chr20 49493044 49493044 G A rs367775804 BCAS4 Nonsynonymous SNV V126M 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.02 163207 chr19 9056997 9056997 G C rs374307027 MUC16 Nonsynonymous SNV A10150G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.63 163208 chr17 3119648 3119648 C T rs62090945 OR1A1 Nonsynonymous SNV T245M 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23.9 163209 chr10 860946 860946 G A rs147237603 LARP4B Nonsynonymous SNV P587L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.22 163210 chr20 56136608 56136608 C T rs45559338 PCK1 Synonymous SNV D47D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.72 163211 chr20 56886132 56886132 C A rs151113121 RAB22A Synonymous SNV R24R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 163212 chr19 2877320 2877320 C T rs143075091 ZNF556 Nonsynonymous SNV R121C 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 4.398 163213 chr2 230377562 230377562 C T rs765060539 DNER Nonsynonymous SNV A362T 0 0 0.003 0 0 0 0 1 0 0 0 0 26 163214 chr19 9006664 9006664 G A rs187293598 MUC16 Nonsynonymous SNV T13195M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 163215 chr2 231742214 231742214 C T rs35084476 ITM2C Synonymous SNV L174L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.05 163216 chr10 10961959 10961959 C A CELF2 Nonsynonymous SNV P29Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.68 163217 chr19 3546255 3546255 T G rs768444875 MFSD12 Nonsynonymous SNV T389P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.2 163218 chr1 101197054 101197054 C T rs780212367 VCAM1 Nonsynonymous SNV T410M 0.002 0 0 0 2 0 0 0 0 0 0 0 23 163219 chr19 36293094 36293094 C G rs1023841358 PRODH2 Synonymous SNV L475L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 163220 chr19 9085814 9085814 A G rs753204946 MUC16 Nonsynonymous SNV S2001P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.26 163221 chr20 61939947 61939947 C T rs779042167 COL20A1 Nonsynonymous SNV R277C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 163222 chr20 62039831 62039831 G C rs766274715 KCNQ2 Nonsynonymous SNV P580A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 163223 chr10 22497902 22497902 C T EBLN1 Nonsynonymous SNV M337I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.755 163224 chr20 62199806 62199806 G A HELZ2 Synonymous SNV P545P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.46 163225 chr20 62724093 62724093 C T rs113943566 OPRL1 Nonsynonymous SNV A7V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.87 163226 chr1 100378008 100378008 G A rs140481863 AGL Nonsynonymous SNV R1295H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 163227 chr2 242078093 242078093 C T rs774944055 PASK Synonymous SNV S239S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 163228 chr1 114483762 114483762 C T HIPK1 Nonsynonymous SNV R253C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 163229 chr10 38122022 38122022 G A rs149252478 ZNF248 Synonymous SNV D87D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.062 163230 chr1 109804201 109804201 T C rs112344399 CELSR2 Synonymous SNV F1416F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.712 163231 chr1 109805867 109805867 T C rs41309211 CELSR2 Synonymous SNV F1604F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.393 163232 chr1 109823834 109823834 G T rs115727190 PSRC1 Nonsynonymous SNV P187T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 163233 chr19 55451740 55451740 G A NLRP7 Synonymous SNV D149D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.263 163234 chr2 26750782 26750782 G A rs61746568 OTOF Nonsynonymous SNV R49W 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 Benign/Likely benign 34 163235 chr19 3983220 3983220 G A rs369558753 EEF2 Synonymous SNV A96A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.034 163236 chr2 28824199 28824199 G A rs201356371 PLB1 Synonymous SNV S858S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.11 163237 chr19 41082816 41082816 C T SHKBP1 Nonsynonymous SNV A4V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 163238 chr19 56006053 56006053 - CC SSC5D Frameshift insertion S433Rfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 163239 chr19 41925194 41925194 C T rs10404506 BCKDHA Synonymous SNV I213I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.55 163240 chr19 41939248 41939248 C T rs35615017 DMAC2 Synonymous SNV S148S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.42 163241 chr1 113255471 113255471 G A rs115625374 PPM1J Synonymous SNV S208S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.188 163242 chr2 3605983 3605983 C G rs113011558 RNASEH1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.93 163243 chr19 42219138 42219138 C T rs150900406 CEACAM5 Nonsynonymous SNV R225C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 163244 chr1 150482334 150482334 C T rs372377616 ECM1 Nonsynonymous SNV R81C 0.002 0 0 0 2 0 0 0 0 0 0 0 9.079 163245 chr1 114454615 114454615 A G rs766211735 DCLRE1B Synonymous SNV P341P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.385 163246 chr19 42301765 42301765 C A rs61736644 CEACAM3 Synonymous SNV T103T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 9.59 163247 chr19 42461004 42461004 G A rs10182 RABAC1 Synonymous SNV P184P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.36 163248 chr19 42854420 42854420 C T rs545610720 MEGF8 Synonymous SNV L807L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 163249 chr19 42893102 42893102 C A rs144536707 CNFN Nonsynonymous SNV D30Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.9 163250 chr21 43491440 43491440 G A rs368977312 UMODL1 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.077 163251 chr2 40006286 40006286 G C rs748256683 THUMPD2 Nonsynonymous SNV R32G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.5 163252 chr19 5754220 5754220 G A rs553271657 CATSPERD Synonymous SNV S414S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.256 163253 chr2 44586779 44586779 G A rs145322905 PREPL Stop gain Q26X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 163254 chr2 46234658 46234658 A G PRKCE Nonsynonymous SNV E374G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 163255 chr2 47049340 47049340 C T rs776070142 LINC01118 0 0 0.003 0 0 0 0 1 0 0 0 0 1.01 163256 chr10 71258035 71258035 G A TSPAN15 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 163257 chr19 56206685 56206685 G C rs780944617 EPN1 Nonsynonymous SNV G539A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 163258 chr1 153924678 153924678 C T CRTC2 Synonymous SNV T271T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.93 163259 chr21 45706452 45706452 C T AIRE Synonymous SNV L49L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.435 163260 chr1 12387797 12387797 G T rs199578459 VPS13D Nonsynonymous SNV A2695S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 163261 chr1 154842202 154842202 - GCTGCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 163262 chr2 55189686 55189686 G A rs202192837 EML6 Nonsynonymous SNV G1666R 0 0 0.007 0 0 0 0 2 0 0 0 0 33 163263 chr19 44981516 44981516 C T rs16979130 ZNF180 Synonymous SNV S369S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 1.827 163264 chr1 13940189 13940189 G T rs140865929 PDPN Synonymous SNV V71V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.211 163265 chr10 75035404 75035404 G A rs139438629 DNAJC9-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.003 163266 chr1 155880587 155880587 A G RIT1 Nonsynonymous SNV F6S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.267 163267 chr19 56895409 56895409 G C rs200536667 ZNF582 Synonymous SNV T490T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.327 163268 chr1 156563334 156563334 C T rs139281973 NAXE Synonymous SNV I217I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.5 163269 chr1 150530041 150530041 G A rs780562270 ADAMTSL4 Nonsynonymous SNV A707T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.535 163270 chr1 151039799 151039799 A G rs145607761 MLLT11 Synonymous SNV S33S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.379 163271 chr1 151105522 151105522 G T rs949437835 SEMA6C Nonsynonymous SNV P736H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.211 163272 chr2 75916303 75916303 T C rs150597064 GCFC2 Nonsynonymous SNV D294G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 163273 chr1 151537058 151537058 C T rs115288201 TUFT1 Synonymous SNV L103L 0.001 0 0 0 1 0 0 0 0 0 0 0 11 163274 chr1 158325819 158325819 G A rs61734678 CD1E Synonymous SNV A87A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.945 163275 chr1 158326335 158326335 A T rs35079671 CD1E Nonsynonymous SNV T129S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 163276 chr1 158326581 158326581 T C rs61734681 CD1E Synonymous SNV T153T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.025 163277 chr1 152005257 152005257 G T rs115193069 S100A11 Nonsynonymous SNV L67M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 163278 chr1 152059580 152059580 G C rs16833835 TCHHL1 Nonsynonymous SNV A193G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.21 163279 chr2 96907866 96907866 G A rs925456616 STARD7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.132 163280 chr1 154461820 154461820 C T rs755012416 SHE Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 163281 chr1 159912757 159912757 G A rs141267313 IGSF9 Synonymous SNV Y81Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 163282 chr1 160063531 160063531 G A rs35740609 IGSF8 Synonymous SNV A291A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.71 163283 chr1 160129273 160129273 G A rs61734686 ATP1A4 Synonymous SNV L245L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.51 163284 chr1 154898889 154898889 G A rs149231731 PMVK Nonsynonymous SNV T114M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 163285 chr3 101044893 101044893 T C rs145893689 SENP7 Nonsynonymous SNV H852R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 163286 chr19 49001206 49001206 G A rs367887350 LMTK3 Synonymous SNV A1069A 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 6.231 163287 chr19 8841948 8841948 G A OR2Z1 Synonymous SNV K186K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.465 163288 chr1 1560387 1560387 G A rs755748122 MIB2 Synonymous SNV P239P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 163289 chr3 108214716 108214716 C T rs751604307 MYH15 Nonsynonymous SNV A228T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.019 163290 chr1 156339147 156339147 A G rs202003473 RHBG Nonsynonymous SNV Y36C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 29.9 163291 chr19 49473897 49473897 T C GYS1 Nonsynonymous SNV Y508C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 163292 chr22 29956803 29956803 T C rs781600107 NIPSNAP1 Nonsynonymous SNV K189R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.74 163293 chr10 103294541 103294541 A G rs768228515 BTRC Synonymous SNV V381V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.33 163294 chr3 112998769 112998769 C T rs754992516 BOC Nonsynonymous SNV R708C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 163295 chr3 11383640 11383640 A T ATG7 Stop gain K299X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 163296 chr22 31688293 31688293 T C rs755359250 PIK3IP1 Nonsynonymous SNV N13S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.918 163297 chr3 118381337 118381337 G T rs77953091 LOC105374060 0 0 0.075 0 0 0 0 22 0 0 1 0 0.236 163298 chr3 119336962 119336962 G A rs2692622 PLA1A Nonsynonymous SNV S111N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 163299 chr10 115364586 115364586 T C rs141739097 NRAP Nonsynonymous SNV M1301V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.352 163300 chr1 173493164 173493164 A G rs778594295 SLC9C2 Nonsynonymous SNV Y862H 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 163301 chr1 100740505 100740505 G C rs140549239 RTCA Nonsynonymous SNV G200A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.1 163302 chr1 175066809 175066809 C T rs564187493 TNN Synonymous SNV N615N 0.003 0 0 0 3 0 0 0 0 0 0 0 10.27 163303 chr3 123665912 123665912 A G rs772658787 CCDC14 Synonymous SNV H161H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.271 163304 chr1 161018224 161018224 C T rs143251755 ARHGAP30 Nonsynonymous SNV E686K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 163305 chr1 162724636 162724636 T C rs2271305 DDR2 Synonymous SNV H136H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.419 163306 chr19 52819163 52819163 G A ZNF480 Synonymous SNV V15V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.813 163307 chr19 52869845 52869845 G A rs374593644 ZNF610 Nonsynonymous SNV C362Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 163308 chr1 111863008 111863008 G A rs545102298 CHIA Nonsynonymous SNV V290M 0.003 0 0 0 4 0 0 0 0 0 0 0 6.52 163309 chr10 126715733 126715733 C T rs138928811 CTBP2 Nonsynonymous SNV G199E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 163310 chr1 111957789 111957789 G A rs755617091 OVGP1 Nonsynonymous SNV T445I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 163311 chr19 54610367 54610367 G C rs34939501 TFPT Nonsynonymous SNV A242G 0.009 0.003 0.01 3 10 1 0.008 3 1 0 0 0 11.12 163312 chr1 169347686 169347686 G A rs1064274 BLZF1 Nonsynonymous SNV R196Q 0.008 0.008 0.007 4 9 3 0.01 2 0 0 0 0 22.8 163313 chr1 169499020 169499020 G C rs6034 F5 Nonsynonymous SNV L1749V 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 163314 chr1 169500178 169500178 G C rs6011 F5 Nonsynonymous SNV T1685S 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.564 163315 chr1 115226899 115226899 C A rs139582106 AMPD1 Nonsynonymous SNV Q185H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.62 163316 chr3 139071497 139071497 C G rs140631494 MRPS22 Nonsynonymous SNV H206Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.392 163317 chr1 190067182 190067182 G T rs141719999 BRINP3 Nonsynonymous SNV T654K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.19 163318 chr1 120311418 120311418 G A rs587712415 HMGCS2 Nonsynonymous SNV A17V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 163319 chr3 151161214 151161214 G T rs779020744 IGSF10 Nonsynonymous SNV P1841T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 163320 chr1 1246437 1246437 T C rs766185058 PUSL1 Nonsynonymous SNV L306P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.371 163321 chr3 15303752 15303752 A G rs149659262 SH3BP5 Synonymous SNV H23H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.557 163322 chr19 55710068 55710068 C T rs142378567 PTPRH Nonsynonymous SNV V367I 0.003 0 0 0 4 0 0 0 0 0 0 0 15.01 163323 chr3 15749465 15749465 G A rs745306537 ANKRD28 Synonymous SNV L321L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 163324 chr3 160232966 160232966 T C rs180777154 SCARNA7 0 0 0.003 0 0 0 0 1 0 0 0 0 2.082 163325 chr18 76756958 76756958 A G SALL3 Nonsynonymous SNV N1180S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.4 163326 chr3 164777017 164777017 T G rs777261367 SI Nonsynonymous SNV N406T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 163327 chr1 180217433 180217433 C T rs147491286 LHX4 Synonymous SNV C30C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.44 163328 chr18 77440097 77440097 C G rs564311662 CTDP1 Synonymous SNV A50A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 12.66 163329 chr1 181767595 181767595 C T rs34942364 CACNA1E Synonymous SNV S2127S 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 10.74 163330 chr11 830130 830130 G A CRACR2B Synonymous SNV R201R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 16.12 163331 chr3 172062016 172062016 C T rs760937058 FNDC3B Nonsynonymous SNV R740C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 163332 chr1 151149195 151149195 G T rs745522890 VPS72 Synonymous SNV G351G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.28 163333 chr1 183534860 183534860 C T rs138860204 NCF2 Nonsynonymous SNV G246R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.6 163334 chr19 5654197 5654197 G A rs188904085 SAFB Nonsynonymous SNV R394Q 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 33 163335 chr1 151955658 151955658 T C S100A10 Nonsynonymous SNV K92R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 163336 chr1 1855855 1855855 C T rs745549710 CFAP74 Synonymous SNV S1403S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 163337 chr17 8159658 8159658 G C PFAS Nonsynonymous SNV E252Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.182 163338 chr1 119683075 119683075 A G WARS2-AS1 0.002 0 0 0 2 0 0 0 1 0 0 0 8.106 163339 chr3 183774766 183774766 G A rs756217477 HTR3C Nonsynonymous SNV D165N 0 0 0.003 0 0 0 0 1 0 0 0 0 25 163340 chr19 5759120 5759120 G A rs200533206 CATSPERD Synonymous SNV Q464Q 0.006 0.005 0 3 7 2 0.008 0 0 0 0 0 3.623 163341 chr1 206650111 206650111 T A rs782336421 IKBKE Nonsynonymous SNV L126M 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24.3 163342 chr1 12677188 12677188 G A rs148358973 DHRS3 Nonsynonymous SNV R56C 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 31 163343 chr1 1269571 1269571 T C rs779611258 TAS1R3 Synonymous SNV R762R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 163344 chr3 185969698 185969698 C T rs377073909 DGKG Synonymous SNV G512G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 163345 chr19 618583 618583 C T rs146040672 POLRMT Synonymous SNV K1109K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 10.27 163346 chr19 621646 621646 C T rs370751400 POLRMT Synonymous SNV L684L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 3.51 163347 chr19 58198250 58198250 G A rs776303245 ZNF551 Nonsynonymous SNV E175K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.08 163348 chr3 194146248 194146248 T C rs189073215 ATP13A3 Nonsynonymous SNV T1046A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.003 163349 chr2 118732440 118732440 T C rs368407933 CCDC93 Nonsynonymous SNV M263V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.14 163350 chr2 119915594 119915594 C T rs370204561 C1QL2 Synonymous SNV P84P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.94 163351 chr18 2892116 2892116 C T rs779638259 EMILIN2 Nonsynonymous SNV A664V 0.004 0 0 3 5 0 0.008 0 0 0 0 0 8.935 163352 chr18 29178562 29178562 G A rs148538950 TTR Nonsynonymous SNV R123H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.2 163353 chr1 220287806 220287806 T A IARS2 Nonsynonymous SNV L544M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 163354 chr19 6477247 6477247 G A DENND1C Synonymous SNV T121T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.685 163355 chr1 158390612 158390612 G A rs373065917 OR10K2 Synonymous SNV L15L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.408 163356 chr11 2291335 2291335 G A rs374798855 ASCL2 Synonymous SNV H76H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 15.08 163357 chr3 20027536 20027536 A G rs186148467 PP2D1 Nonsynonymous SNV V410A 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 18.26 163358 chr11 2429006 2429006 C G rs149048146 TRPM5 Synonymous SNV L973L 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 10.74 163359 chr1 153512612 153512612 T A rs2230870 S100A5 Nonsynonymous SNV Y19F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.9 163360 chr11 2975784 2975784 A G rs1020952124 NAP1L4 Synonymous SNV T336T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.464 163361 chr1 154557503 154557503 A G rs887707722 ADAR Nonsynonymous SNV S859P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 163362 chr1 205632082 205632082 C T rs771761009 SLC45A3 Synonymous SNV L279L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 163363 chr2 136545956 136545956 G A rs138964370 LCT Nonsynonymous SNV R1908C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.508 163364 chr1 225460731 225460731 T A DNAH14 Nonsynonymous SNV H2638Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.4 163365 chr3 38080775 38080775 A G rs764146548 DLEC1 Nonsynonymous SNV Q20R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 163366 chr3 38167178 38167178 T C ACAA1 Synonymous SNV L266L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.418 163367 chr2 145157344 145157344 A T rs34890427 ZEB2 Synonymous SNV T446T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.001 163368 chr1 156106029 156106029 C T LMNA Synonymous SNV T282T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.2 163369 chr3 38949530 38949530 A G rs559837327 SCN11A Synonymous SNV F461F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.699 163370 chr2 152584282 152584282 G A rs77994592 NEB Nonsynonymous SNV R73W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 163371 chr2 153520719 153520719 T C rs113359796 PRPF40A Synonymous SNV S628S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.956 163372 chr1 21042129 21042129 C T rs748366715 KIF17 Nonsynonymous SNV V79I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 163373 chr3 42229565 42229565 T C rs758268835 TRAK1 Nonsynonymous SNV M96T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 163374 chr2 160086640 160086640 G T rs111652024 TANC1 Nonsynonymous SNV G1367V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 0.143 163375 chr2 160139284 160139284 A C rs73968307 WDSUB1 Synonymous SNV P99P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.009 163376 chr1 157485432 157485432 A G rs765035849 FCRL5 Nonsynonymous SNV L986P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 163377 chr2 160690646 160690646 T C rs6722188 LY75, LY75-CD302 Synonymous SNV P1250P 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 10.77 163378 chr2 160840585 160840585 C T rs371224068 PLA2R1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 163379 chr3 43384947 43384947 G A rs35154175 SNRK Synonymous SNV P146P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 163380 chr2 162087835 162087835 G A rs10183668 TANK Nonsynonymous SNV G292R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.14 163381 chr3 43647271 43647271 T G rs112040665 ANO10 Nonsynonymous SNV Q25P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.98 163382 chr1 22182333 22182333 G A rs140954748 HSPG2 Nonsynonymous SNV A1884V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 163383 chr1 229694346 229694346 G A ABCB10 Synonymous SNV A18A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.03 163384 chr1 231474144 231474144 G C rs753267739 SPRTN Nonsynonymous SNV L5F 0.003 0 0 0 3 0 0 0 0 0 0 0 5.491 163385 chr3 45943347 45943347 C T CCR9 Nonsynonymous SNV S344L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 163386 chr3 47046810 47046810 - GGTGCGGCCCAGGGGCT rs574930889 NBEAL2 Frameshift insertion F2154Cfs*31 0 0 0.01 0 0 0 0 3 0 0 0 0 163387 chr3 47378117 47378117 G A rs775179182 KLHL18 Nonsynonymous SNV V331M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 163388 chr11 6245409 6245409 G A rs780808146 FAM160A2 Nonsynonymous SNV R70C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 163389 chr3 47918982 47918982 C G rs35521469 MAP4 Synonymous SNV V677V 0 0.003 0.01 0 0 1 0 3 0 0 0 0 4.421 163390 chr3 48310055 48310055 C T rs71323392 ZNF589 Nonsynonymous SNV R292C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 163391 chr11 6415465 6415465 G A SMPD1 Synonymous SNV G464G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.956 163392 chr3 48336219 48336219 C T rs35784663 NME6 Nonsynonymous SNV E90K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 163393 chr18 71814956 71814956 G C rs759404622 FBXO15 Nonsynonymous SNV P22R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.52 163394 chr3 48717066 48717066 C T rs13087168 NCKIPSD Synonymous SNV T477T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 163395 chr11 6566157 6566157 C T rs145735993 DNHD1 Synonymous SNV L1330L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.31 163396 chr1 179041197 179041197 T G FAM20B Nonsynonymous SNV L383R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 163397 chr1 109839496 109839496 G A rs150334222 MYBPHL Synonymous SNV N213N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.896 163398 chr1 162343974 162343974 C T rs17853130 SPATA46 Nonsynonymous SNV R217H 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 13.1 163399 chr1 228289132 228289132 C T rs200320694 C1orf35 Synonymous SNV K192K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 163400 chr2 179430137 179430137 T G rs573877174 TTN Synonymous SNV R17843R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.86 163401 chr3 50138144 50138144 - A rs199566172 RBM5-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 163402 chr1 228404190 228404190 G A rs766018982 OBSCN Nonsynonymous SNV E722K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 163403 chr1 228432113 228432113 T A rs199696332 OBSCN Nonsynonymous SNV Y1108N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 163404 chr1 236767336 236767336 G A rs141851117 HEATR1 Synonymous SNV L20L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.28 163405 chr3 50402214 50402214 G A rs186468159 CACNA2D2 Synonymous SNV R1107R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 15.3 163406 chr1 228645909 228645909 G A rs369836649 H2BU1 Nonsynonymous SNV G27S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 163407 chr1 183097864 183097864 C T rs769737749 LAMC1 Nonsynonymous SNV R1087C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 163408 chr3 52559025 52559025 G A rs144563257 NT5DC2 Nonsynonymous SNV S434L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 163409 chr1 1854854 1854854 C T rs139400559 CFAP74 Nonsynonymous SNV V1492M 0.002 0 0 0 2 0 0 0 0 0 0 0 24 163410 chr1 110168392 110168392 C A AMPD2 Synonymous SNV R90R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 163411 chr3 53126471 53126471 G T RFT1 Nonsynonymous SNV P458T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 163412 chr2 186673389 186673389 A G rs200925453 FSIP2 Synonymous SNV K6452K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.464 163413 chr3 53707750 53707750 C G CACNA1D Nonsynonymous SNV A376G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 163414 chr11 10800546 10800546 A G rs774293970 CTR9 Nonsynonymous SNV D1115G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 163415 chr2 191375196 191375196 C T NEMP2 Nonsynonymous SNV E341K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 163416 chr1 197128507 197128507 C T rs199845141 ZBTB41 Synonymous SNV T904T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.953 163417 chr1 198675959 198675959 G T rs142941257 PTPRC Nonsynonymous SNV G100V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 163418 chr2 197784787 197784787 T C PGAP1 Nonsynonymous SNV K79E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 163419 chr1 200619654 200619654 T C rs145102433 DDX59 Nonsynonymous SNV I405V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.51 163420 chr1 20073023 20073023 G A TMCO4 Nonsynonymous SNV A228V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 163421 chr1 113161647 113161647 C A ST7L Nonsynonymous SNV R30M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 163422 chr3 71804229 71804229 G A GPR27 Synonymous SNV R343R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 163423 chr11 17474684 17474684 G A rs60824529 ABCC8 Synonymous SNV N386N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 9.751 163424 chr1 114267492 114267492 C A rs781401874 PHTF1 Nonsynonymous SNV G171V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 163425 chr2 201526352 201526352 C A AOX1 Nonsynonymous SNV F1142L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 163426 chr1 244218327 244218327 C T rs754255213 ZBTB18 Synonymous SNV N408N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.488 163427 chr1 24447867 24447867 C T rs140471465 IL22RA1 Nonsynonymous SNV V385I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.7 163428 chr1 245530376 245530376 G A rs369084969 KIF26B Nonsynonymous SNV V236M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.735 163429 chr1 20234224 20234224 C G rs369324566 OTUD3 Synonymous SNV A394A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 163430 chr4 103184239 103184239 G A rs112519623 SLC39A8 Nonsynonymous SNV L382F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 31 163431 chr1 120254764 120254764 A G rs778630047 PHGDH Nonsynonymous SNV E40G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 163432 chr11 30433028 30433028 G A rs146268212 MPPED2 Nonsynonymous SNV P291L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.7 163433 chr1 186007989 186007989 A C rs140057862 HMCN1 Synonymous SNV L1960L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.012 163434 chr1 26361837 26361837 - G rs570706748 EXTL1 X677delinsX 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 163435 chr1 1263085 1263085 G A rs150672559 CPTP Nonsynonymous SNV R196H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 3.433 163436 chr19 15338837 15338837 C T rs200446572 EPHX3 Nonsynonymous SNV E231K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 163437 chr1 206329051 206329051 C T rs142068333 CTSE Nonsynonymous SNV T217I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.775 163438 chr1 28891339 28891339 G A rs764252241 TRNAU1AP Nonsynonymous SNV V135M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 163439 chr1 198222237 198222237 G A rs367681965 NEK7 Nonsynonymous SNV R42H 0.008 0.003 0 0 9 1 0 0 0 0 0 0 34 163440 chr1 207803936 207803936 G A rs115510609 CR1 Nonsynonymous SNV R2026Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.784 163441 chr1 27278671 27278671 C T rs17162368 KDF1 Synonymous SNV P67P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.75 163442 chr1 27339087 27339087 C T rs116726456 TENT5B Synonymous SNV A25A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 163443 chr1 27688031 27688031 G C rs137930350 MAP3K6 Nonsynonymous SNV L548V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.485 163444 chr1 27875518 27875520 AGG - rs111827498 AHDC1 S1036del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 163445 chr4 126239684 126239684 C T rs150906264 FAT4 Synonymous SNV S706S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.094 163446 chr11 47371575 47371575 C G rs730880619 MYBPC3 Nonsynonymous SNV E165D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 163447 chr4 1283741 1283741 C G rs377160765 MAEA Nonsynonymous SNV L14V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 163448 chr2 220334089 220334089 C T rs753756338 SPEG Nonsynonymous SNV R1235C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 163449 chr4 128904197 128904197 C G ABHD18 Synonymous SNV L29L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 163450 chr4 128904198 128904198 A T ABHD18 Stop gain K30X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 163451 chr4 1374769 1374769 G A rs115722661 UVSSA Synonymous SNV E618E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.713 163452 chr1 153043165 153043165 - GCACT rs771024908 SPRR2B Frameshift insertion Q51Sfs*9 0.001 0 0 1 1 0 0.003 0 0 0 0 0 163453 chr1 3547674 3547674 A G rs780964263 WRAP73 Synonymous SNV F416F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.37 163454 chr1 3380097 3380097 G A rs891245485 ARHGEF16 Nonsynonymous SNV R150Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 163455 chr19 17838606 17838606 G A rs766165222 MAP1S Nonsynonymous SNV G779S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 163456 chr1 20442831 20442831 C T rs150798636 PLA2G2D Synonymous SNV T60T 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 17.65 163457 chr1 220318910 220318910 T C IARS2 Synonymous SNV S937S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.396 163458 chr1 39325191 39325191 C A RRAGC Nonsynonymous SNV G43V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 163459 chr1 39783013 39783013 G T rs138873333 MACF1 Nonsynonymous SNV R1244L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 163460 chr1 39853641 39853641 G T rs144760259 MACF1 Nonsynonymous SNV A2981S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.1 163461 chr19 4494310 4494310 C T HDGFL2 Synonymous SNV R354R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.98 163462 chr1 22176959 22176959 C T rs2290499 HSPG2 Synonymous SNV A2398A 0.014 0.008 0 0 16 3 0 0 1 0 0 0 Benign/Likely benign 16.16 163463 chr1 36786093 36786093 G A SH3D21 Nonsynonymous SNV R499K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.389 163464 chr1 3680280 3680280 G A rs769945167 CCDC27 Synonymous SNV A444A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.573 163465 chr1 38184425 38184425 C T EPHA10 Synonymous SNV A940A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 163466 chr4 15938107 15938107 T C rs149245779 FGFBP1 Nonsynonymous SNV Q50R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 163467 chr1 207240991 207240991 C T rs771936929 PFKFB2 Synonymous SNV S260S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.44 163468 chr4 164393543 164393543 A G rs114733407 TKTL2 Synonymous SNV T448T 0.004 0.008 0.007 0 5 3 0 2 0 0 0 0 0.004 163469 chr1 45793301 45793301 G A rs763627175 HPDL Nonsynonymous SNV V161M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 163470 chr1 43021838 43021838 G A rs61777391 CCDC30 Nonsynonymous SNV G146E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 163471 chr1 43890060 43890060 C T SZT2 Synonymous SNV L810L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 163472 chr1 44474143 44474143 C T rs61741712 SLC6A9 Nonsynonymous SNV G93S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.399 163473 chr1 44606982 44606982 G C rs138885041 KLF18 Nonsynonymous SNV Q108E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.482 163474 chr1 159902438 159902438 G A rs116177033 IGSF9 Nonsynonymous SNV P370L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.3 163475 chr2 241459818 241459818 C T rs775506447 ANKMY1 Synonymous SNV L425L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 163476 chr19 33695677 33695677 C T rs374703927 LRP3 Nonsynonymous SNV R132C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 163477 chr1 161198530 161198530 C T rs145255926 TOMM40L Nonsynonymous SNV A172V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.7 163478 chr4 2209846 2209846 T C rs141707854 POLN Synonymous SNV K194K 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.296 163479 chr4 2306498 2306498 C T rs116535710 ZFYVE28 Synonymous SNV S493S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.49 163480 chr4 2341374 2341374 G A rs375892484 ZFYVE28 Synonymous SNV A62A 0 0 0.007 0 0 0 0 2 0 0 0 0 12.52 163481 chr1 55524301 55524301 G A rs370574590 PCSK9 Nonsynonymous SNV R495Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 28.7 163482 chr1 57206384 57206384 C T rs140363025 FYB2 Synonymous SNV S563S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.76 163483 chr1 167086657 167086657 G A rs547250427 DUSP27 Nonsynonymous SNV V100I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 29.7 163484 chr1 54332001 54332001 G A rs777138256 YIPF1 Synonymous SNV L235L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 163485 chr19 3612263 3612263 G A rs747351327 CACTIN Synonymous SNV F645F 0 0 0 2 0 0 0.005 0 0 0 0 0 9.321 163486 chr1 6212566 6212566 G C rs140726881 CHD5 Nonsynonymous SNV S259C 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 25.4 163487 chr4 3446112 3446112 G A rs16844370 HGFAC Nonsynonymous SNV V225M 0.003 0 0.01 0 3 0 0 3 0 0 1 0 24.7 163488 chr4 3494856 3494856 C T rs56769879 DOK7 Synonymous SNV P71P 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 9.862 163489 chr4 3495064 3495064 C T rs16844470 DOK7 Nonsynonymous SNV R141W 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 27.5 163490 chr4 36195259 36195259 A C rs769663415 ARAP2 Nonsynonymous SNV F500V 0 0 0.007 0 0 0 0 2 0 0 0 0 28.2 163491 chr1 62728902 62728902 A G rs145623004 KANK4 Nonsynonymous SNV Y173H 0.002 0.008 0.003 0 2 3 0 1 0 1 0 0 Uncertain significance 21.5 163492 chr2 28805359 28805359 A G rs144737372 PLB1 Nonsynonymous SNV R563G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.3 163493 chr1 6046233 6046233 G A rs368118106 NPHP4 Synonymous SNV D39D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.244 163494 chr4 40058762 40058762 G T rs937967 LOC344967 0 0 0.007 0 0 0 0 2 0 0 1 0 6.362 163495 chr1 6534132 6534132 C T rs143484278 PLEKHG5 Nonsynonymous SNV G178R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.469 163496 chr1 65858375 65858375 A G rs746591539 DNAJC6 Nonsynonymous SNV N577S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 163497 chr11 60714046 60714046 A G rs149694525 SLC15A3 Nonsynonymous SNV L269P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.3 163498 chr4 40936690 40936690 C T rs550228448 APBB2 Synonymous SNV P356P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.59 163499 chr4 41633172 41633172 G A rs185882675 LIMCH1 Nonsynonymous SNV D427N 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 7.743 163500 chr1 247053355 247053355 G C rs116104791 AHCTF1 Nonsynonymous SNV S686C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 25.4 163501 chr1 229666037 229666037 C T rs140426197 ABCB10 Synonymous SNV P518P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.41 163502 chr11 61724470 61724470 C T rs764196815 BEST1 Synonymous SNV N106N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.19 163503 chr11 61725893 61725893 G A rs745834582 BEST1 Synonymous SNV A330A 0 0 0 2 0 0 0.005 0 0 0 0 0 2.241 163504 chr2 33335742 33335742 G A LTBP1 Synonymous SNV G319G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.831 163505 chr2 3691406 3691406 G A rs148786016 COLEC11 Nonsynonymous SNV G98S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.022 163506 chr19 38383969 38383969 G A rs11669466 WDR87 Synonymous SNV L792L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.896 163507 chr4 5527185 5527185 T C rs147966579 LINC01587 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 163508 chr1 7724585 7724585 G A rs371971274 CAMTA1 Nonsynonymous SNV G630S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 163509 chr4 55980296 55980296 C T rs189635816 KDR Synonymous SNV S265S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 163510 chr1 79126287 79126287 T C rs377228944 IFI44 Nonsynonymous SNV I354T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.62 163511 chr1 8075419 8075419 T G rs558318143 ERRFI1 Nonsynonymous SNV T51P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.12 163512 chr19 40357522 40357522 C T rs190665776 FCGBP Nonsynonymous SNV R5264H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 163513 chr11 64390465 64390465 G A rs768530263 NRXN2 Synonymous SNV S265S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 163514 chr19 40434076 40434076 C T FCGBP Nonsynonymous SNV A65T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.176 163515 chr1 79119938 79119938 T C IFI44 Synonymous SNV D156D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 163516 chr11 64597279 64597279 C T rs55986417 CDC42BPG Nonsynonymous SNV G1211S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 163517 chr4 678283 678283 C G rs201056671 SLC49A3 Nonsynonymous SNV G159R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.9 163518 chr1 87036868 87036868 G A rs763904592 CLCA4 Nonsynonymous SNV A431T 0.005 0 0 5 6 0 0.013 0 0 0 0 0 24.5 163519 chr1 1847952 1847952 G A rs140177117 CALML6 Nonsynonymous SNV G34R 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 25.4 163520 chr4 6865719 6865719 G T rs759499449 KIAA0232 Nonsynonymous SNV V1204L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 163521 chr2 55056572 55056572 A G rs367997357 EML6 Nonsynonymous SNV I269V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.48 163522 chr11 64974054 64974054 G A rs17883283 CAPN1 Nonsynonymous SNV G492R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 34 163523 chr4 68930608 68930608 G C TMPRSS11F Synonymous SNV P270P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.201 163524 chr2 55439881 55439881 A C rs746029257 CLHC1 Nonsynonymous SNV C21G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 163525 chr1 2488002 2488002 C T rs759439521 TNFRSF14-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.011 163526 chr1 89579827 89579827 C T rs147615005 GBP2 Nonsynonymous SNV V341M 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 26 163527 chr11 65385949 65385949 G A rs368665158 PCNX3 Synonymous SNV P372P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.639 163528 chr11 65413815 65413815 G A rs776147357 SIPA1 Nonsynonymous SNV A463T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 163529 chr2 61463041 61463041 G A USP34 Nonsynonymous SNV T2324M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 163530 chr19 42557790 42557790 T A GRIK5 Synonymous SNV T411T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 163531 chr2 62099260 62099260 C T rs146765948 CCT4 Nonsynonymous SNV R453Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 25.8 163532 chr11 65631985 65631985 T C rs149378507 MUS81 Synonymous SNV C360C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.054 163533 chr4 72622621 72622621 T C rs756799477 GC Nonsynonymous SNV H281R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 163534 chr11 65793386 65793386 G A rs187934495 CATSPER1 Synonymous SNV L155L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.237 163535 chr1 204093845 204093845 C T rs201054411 SOX13 Synonymous SNV H484H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.94 163536 chr11 66241358 66241358 T C rs368440199 PELI3 Synonymous SNV L161L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.359 163537 chr11 66243335 66243335 C T rs763830890 PELI3 Synonymous SNV H262H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.038 163538 chr4 76861236 76861236 C T rs745728368 NAAA Nonsynonymous SNV G97S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 163539 chr4 77227990 77227990 T G STBD1 Nonsynonymous SNV L23R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 163540 chr1 20009785 20009785 T C rs140072058 TMCO4 Synonymous SNV S551S 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 0.432 163541 chr11 67267629 67267629 C T rs148032917 PITPNM1 Nonsynonymous SNV D302N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 24 163542 chr11 67353617 67353617 C G rs765500099 GSTP1 Nonsynonymous SNV L127V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 163543 chr2 74752238 74752238 C T DQX1 Nonsynonymous SNV S110N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 163544 chr1 248129251 248129251 C T rs148880648 OR2AK2 Synonymous SNV D206D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.53 163545 chr4 83483393 83483393 C T TMEM150C Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 163546 chr1 208276554 208276554 C T rs146699147 PLXNA2 Synonymous SNV T515T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.86 163547 chr19 44934470 44934470 C A ZNF229 Synonymous SNV G156G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.17 163548 chr1 201824944 201824944 G A IPO9 Nonsynonymous SNV S335N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 163549 chr11 70208570 70208570 G A rs181643615 PPFIA1 Synonymous SNV P947P 0 0 0 2 0 0 0.005 0 0 0 0 0 9.627 163550 chr11 71717267 71717267 A G rs35586429 NUMA1 Nonsynonymous SNV Y1822H 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 15.62 163551 chr19 45157243 45157243 G A rs771706226 PVR Nonsynonymous SNV D267N 0 0 0 2 0 0 0.005 0 0 0 0 0 13.68 163552 chr19 45211317 45211317 G A rs373050209 CEACAM16 Synonymous SNV A375A 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.14 163553 chr1 204226850 204226850 C T rs200206885 PLEKHA6 Synonymous SNV P385P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.25 163554 chr1 38184382 38184382 C T rs11583463 EPHA10 Nonsynonymous SNV A955T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.003 163555 chr19 45645435 45645435 C T rs35904300 PPP1R37 Synonymous SNV N228N 0 0.003 0.007 5 0 1 0.013 2 0 0 0 0 11.27 163556 chr4 8872957 8872957 G A rs950262228 HMX1 Synonymous SNV L128L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 163557 chr4 90034768 90034768 G A rs147964825 TIGD2 Nonsynonymous SNV A215T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 163558 chr4 90756720 90756720 T C rs766497794 SNCA Synonymous SNV T33T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.415 163559 chr4 92007127 92007127 A G CCSER1 Synonymous SNV T733T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 163560 chr1 26515937 26515937 C G CNKSR1 Nonsynonymous SNV D687E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 163561 chr11 74800321 74800321 A C OR2AT4 Nonsynonymous SNV N146K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.77 163562 chr1 26650706 26650706 G A rs201995564 CRYBG2 Synonymous SNV V1558V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.18 163563 chr19 46295986 46295986 G A rs766488376 DMWD Nonsynonymous SNV S10L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 163564 chr20 20180424 20180424 T C CFAP61 Nonsynonymous SNV Y604H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.1 163565 chr1 27684799 27684799 C A MAP3K6 Nonsynonymous SNV A922S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.851 163566 chr5 111755681 111755681 C A rs757990257 EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 9.78 163567 chr19 48049110 48049110 G A rs117338519 ZNF541 Synonymous SNV L226L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 7.567 163568 chr1 44072577 44072577 G A rs199928151 PTPRF Synonymous SNV T961T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.7 163569 chr20 25199235 25199235 G A rs141271331 ENTPD6 Nonsynonymous SNV V92M 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 21.3 163570 chr1 46073916 46073916 C G rs756034680 NASP Nonsynonymous SNV Q381E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.047 163571 chr1 225239383 225239383 C T rs991703706 DNAH14 Synonymous SNV N770N 0.003 0 0 0 3 0 0 0 0 0 0 0 12.86 163572 chr1 46094040 46094040 C A GPBP1L1 Nonsynonymous SNV S438I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 163573 chr1 46662471 46662471 G A rs770834730 POMGNT1 Nonsynonymous SNV R74W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.3 163574 chr19 49114032 49114032 G A rs368924766 FAM83E Nonsynonymous SNV R180C 0 0 0 2 0 0 0.005 0 0 0 0 0 34 163575 chr1 214826188 214826188 G A rs190493764 CENPF Synonymous SNV Q2726Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.139 163576 chr20 30582994 30582994 C G rs1014326201 XKR7 Synonymous SNV T236T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.74 163577 chr5 125891659 125891659 C A ALDH7A1 Nonsynonymous SNV A353S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 163578 chr20 30617551 30617551 C T rs140200202 CCM2L Synonymous SNV C416C 0.007 0.005 0.003 2 8 2 0.005 1 0 0 0 0 14.22 163579 chr1 35251033 35251033 C T rs139005182 GJB3 Stop gain R224X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 163580 chr19 49217289 49217289 G A rs150770743 MAMSTR Nonsynonymous SNV A78V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 163581 chr1 216498882 216498882 C T rs371777049 USH2A Nonsynonymous SNV R303H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Pathogenic 34 163582 chr5 128797155 128797155 C T rs778870140 ADAMTS19 Nonsynonymous SNV P151L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.9 163583 chr1 220156742 220156742 T - EPRS1 0.002 0.005 0 0 2 2 0 0 0 0 0 0 163584 chr1 36937106 36937106 C T rs3918019 CSF3R Nonsynonymous SNV E405K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 20.3 163585 chr5 132763296 132763296 C T rs572946163 MIR1289-2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.956 163586 chr5 133914855 133914855 G A rs150769459 JADE2 Nonsynonymous SNV V742I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.06 163587 chr1 55059695 55059695 C T rs745566637 ACOT11 Nonsynonymous SNV R152C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 163588 chr20 33588805 33588805 C T rs375176309 MYH7B Synonymous SNV A1815A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.09 163589 chr20 35310966 35310966 A G rs35144001 NDRG3 Synonymous SNV I121I 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 11.52 163590 chr1 38197152 38197152 C T rs35063879 EPHA10 Nonsynonymous SNV A532T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.7 163591 chr1 38352664 38352664 G A rs200553283 INPP5B Stop gain R179X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 163592 chr5 137206683 137206683 G A rs114194130 MYOT Nonsynonymous SNV A115T 0.009 0 0.003 3 11 0 0.008 1 0 0 0 0 Benign/Likely benign 0.206 163593 chr5 137476424 137476424 C T rs143228512 BRD8 Synonymous SNV E1195E 0.009 0 0.003 2 10 0 0.005 1 0 0 0 0 11.35 163594 chr19 50393341 50393341 G T rs933599980 IL4I1 Synonymous SNV V430V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 4.748 163595 chr20 37174949 37174949 G A RALGAPB Synonymous SNV V926V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 163596 chr20 39795215 39795215 C T PLCG1 Synonymous SNV N700N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.562 163597 chr20 39974482 39974482 G T rs16985673 LPIN3 Synonymous SNV G13G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 3.541 163598 chr20 39990007 39990007 C T rs57558294 EMILIN3 Synonymous SNV T734T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 11.54 163599 chr20 39990649 39990649 C T rs61739308 EMILIN3 Synonymous SNV S520S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 4.308 163600 chr20 39990711 39990711 G A rs61739310 EMILIN3 Nonsynonymous SNV R500W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 9.985 163601 chr20 39993724 39993724 C T rs78882146 EMILIN3 Nonsynonymous SNV A81T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 32 163602 chr20 40049998 40049998 A T rs41278116 CHD6 Synonymous SNV T1759T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.001 163603 chr5 140615101 140615101 C G rs201031644 PCDHB18P 0 0 0.01 0 0 0 0 3 0 0 0 0 1.871 163604 chr5 140731418 140731418 A C rs543692676 PCDHGB1 Synonymous SNV R531R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 163605 chr5 140731420 140731420 G C rs563575027 PCDHGB1 Nonsynonymous SNV R531S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.45 163606 chr5 141052427 141052427 G A rs763769055 ARAP3 Nonsynonymous SNV P387S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 163607 chr5 141059652 141059652 C T rs149087473 ARAP3 Synonymous SNV R134R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 163608 chr3 132075676 132075676 G A rs151032097 ACP3 Nonsynonymous SNV C339Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 163609 chr20 44485920 44485920 C G ACOT8 Nonsynonymous SNV G12A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.946 163610 chr1 68173323 68173323 C T rs575518588 GNG12 Nonsynonymous SNV R16K 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 22.9 163611 chr20 45867566 45867566 - TGC rs569370037 ZMYND8 Q795_N796insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 163612 chr1 47264856 47264856 C T rs55672106 CYP4B1 Nonsynonymous SNV R35W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 163613 chr20 46277848 46277848 T A NCOA3 Nonsynonymous SNV S1216T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.314 163614 chr11 118899022 118899022 C A SLC37A4 Nonsynonymous SNV G88V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 31 163615 chr20 46267785 46267785 G A rs756751050 NCOA3 Nonsynonymous SNV R849H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 163616 chr19 52619535 52619535 T C ZNF616 Synonymous SNV E294E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.297 163617 chr1 232940909 232940909 C G rs764241900 MAP10 Nonsynonymous SNV T47S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 163618 chr20 48467300 48467300 - T rs765368828 SLC9A8 Frameshift insertion V183Cfs*14 0.001 0 0.003 0 1 0 0 1 0 0 0 0 163619 chr1 232940922 232940925 CTGT - rs757067129 MAP10 C52Ffs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 163620 chr5 149574339 149574339 G A rs199699903 SLC6A7 Nonsynonymous SNV D28N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 163621 chr5 150133101 150133101 G A rs531875955 DCTN4 Synonymous SNV L109L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.25 163622 chr1 234527395 234527395 A T TARBP1 Nonsynonymous SNV H1598Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 163623 chr20 55033507 55033507 G A rs148206287 CASS4 Nonsynonymous SNV A252T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 163624 chr20 55982824 55982824 C A rs753871234 RBM38 Synonymous SNV A214A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 163625 chr19 53304140 53304144 TTATC - rs550161786 ZNF28 K265Nfs*11 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 163626 chr1 55172201 55172201 A G rs200035527 MROH7 Nonsynonymous SNV M738V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.9 163627 chr1 86836744 86836744 T G rs764101896 ODF2L Nonsynonymous SNV E207A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 163628 chr20 58444912 58444912 G A rs770144840 SYCP2 Nonsynonymous SNV R1228W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 163629 chr20 60448812 60448812 C T rs145224808 CDH4 Synonymous SNV N265N 0.003 0 0 4 3 0 0.01 0 0 0 0 0 14.11 163630 chr3 154002684 154002684 A G rs16823843 DHX36 Synonymous SNV F694F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.845 163631 chr3 154002714 154002714 A G rs16823844 DHX36 Synonymous SNV V684V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.501 163632 chr1 246923377 246923377 A G rs775115777 SCCPDH Nonsynonymous SNV K311R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.8 163633 chr5 176335616 176335616 C A rs144604125 UIMC1 Nonsynonymous SNV A586S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 163634 chr20 61947970 61947970 A G COL20A1 Nonsynonymous SNV M864V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.327 163635 chr1 94502904 94502904 C T rs61750127 ABCA4 Nonsynonymous SNV D1204N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 163636 chr5 176919656 176919656 G A rs148209669 PDLIM7 Nonsynonymous SNV A40V 0 0.013 0.007 1 0 5 0.003 2 0 0 0 0 26.2 163637 chr20 62190650 62190650 G A rs141761578 HELZ2 Synonymous SNV L2064L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.055 163638 chr20 62193253 62193253 G T rs200091305 HELZ2 Nonsynonymous SNV P1636H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 163639 chr12 283806 283806 C T rs762079243 IQSEC3 Synonymous SNV S1052S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.16 163640 chr12 330613 330613 G C rs201412499 SLC6A13 Nonsynonymous SNV L447V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.6 163641 chr5 179105841 179105841 A G rs370083020 CBY3 Nonsynonymous SNV W158R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.001 163642 chr12 1965269 1965269 G T CACNA2D4 Stop gain Y687X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 163643 chr5 179290554 179290554 A G TBC1D9B Nonsynonymous SNV F1199S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 163644 chr20 8717802 8717802 A G rs762968564 PLCB1 Nonsynonymous SNV N724S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 163645 chr1 3415380 3415380 G T MEGF6 Synonymous SNV A1035A 0.003 0 0 0 4 0 0 0 0 0 0 0 3.03 163646 chr1 89325599 89325599 G A rs752891245 GTF2B Synonymous SNV A167A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.125 163647 chr20 21690045 21690045 C G PAX1 Synonymous SNV L415L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 163648 chr19 57955113 57955113 C A ZNF749 Nonsynonymous SNV S112R 0 0 0 2 0 0 0.005 0 0 0 0 0 12.39 163649 chr21 31986207 31986207 T G rs775216920 KRTAP6-1 Nonsynonymous SNV Y6S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 163650 chr20 23860266 23860266 C T rs759349174 CST5 Nonsynonymous SNV M16I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 163651 chr20 2464234 2464234 G A rs146214742 ZNF343 Nonsynonymous SNV T368M 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 23.5 163652 chr3 192517080 192517080 A T MB21D2 Nonsynonymous SNV S191T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.951 163653 chr5 43066923 43066923 G C rs180803758 LOC100132356 0 0 0.003 0 0 0 0 1 0 0 0 0 5.139 163654 chr1 42050416 42050416 C T rs199627359 HIVEP3 Nonsynonymous SNV R18Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 163655 chr21 38309212 38309212 C T rs763524800 HLCS Nonsynonymous SNV R325Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 163656 chr21 37732258 37732258 G A rs780018142 MORC3 Nonsynonymous SNV R334H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 163657 chr1 3416273 3416273 C T rs140729991 MEGF6 Synonymous SNV P948P 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 11.67 163658 chr20 33508929 33508929 G A rs755478287 ACSS2 Nonsynonymous SNV E327K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 163659 chr5 53814147 53814147 C T rs565288645 SNX18 Nonsynonymous SNV P122L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.346 163660 chr3 196842825 196842825 C T rs545946507 DLG1 Synonymous SNV E389E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 163661 chr3 197598225 197598225 A C LRCH3 Synonymous SNV L638L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.62 163662 chr20 10620282 10620282 G A rs775363555 JAG1 Nonsynonymous SNV P1174L 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 163663 chr21 43327172 43327172 A G rs762678908 C2CD2 Nonsynonymous SNV V261A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 163664 chr3 28557092 28557092 C G rs116119735 ZCWPW2 Nonsynonymous SNV A255G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.6 163665 chr19 7707142 7707142 C T rs367755105 STXBP2 Synonymous SNV P236P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 15.05 163666 chr21 43319342 43319342 C T rs763828006 C2CD2 Nonsynonymous SNV E409K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.001 163667 chr1 46977985 46977985 C A rs149421625 DMBX1 Nonsynonymous SNV S323Y 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 163668 chr21 43733724 43733724 C T rs548903448 TFF3 Nonsynonymous SNV V48M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 163669 chr21 45472169 45472169 A G rs751475337 TRAPPC10 Synonymous SNV E98E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.221 163670 chr20 3844914 3844914 A G rs766733618 MAVS Nonsynonymous SNV S72G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.19 163671 chr5 71627157 71627157 C T rs770861070 PTCD2 Synonymous SNV Y141Y 0 0 0.01 0 0 0 0 3 0 0 0 0 4.801 163672 chr19 8455312 8455312 G A rs2913976 RAB11B Synonymous SNV R4R 0.005 0.008 0.003 7 6 3 0.018 1 0 1 0 0 18.88 163673 chr19 8651457 8651457 T C rs199521347 ADAMTS10 Synonymous SNV A283A 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 Likely benign 2.894 163674 chr3 39180114 39180114 T A rs201601008 TTC21A Nonsynonymous SNV D1247E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.562 163675 chr3 39374527 39374527 G C rs771864428 CCR8 Nonsynonymous SNV K235N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.9 163676 chr22 17590489 17590489 C G rs771884191 IL17RA Nonsynonymous SNV Q760E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 163677 chr5 79026736 79026736 C T rs749988768 CMYA5 Synonymous SNV D716D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.086 163678 chr20 47775013 47775013 T - rs533415498 STAU1 I15Sfs*2 0.003 0 0 1 3 0 0.003 0 0 0 0 0 163679 chr3 42956163 42956163 T C rs535315010 ZNF662 Nonsynonymous SNV C226R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 163680 chr21 47852049 47852049 G A rs33956783 PCNT Nonsynonymous SNV A2891T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 163681 chr20 48522603 48522603 C T rs149523368 SPATA2 Synonymous SNV S372S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.82 163682 chr22 18561340 18561340 C T rs374290931 PEX26 Synonymous SNV A66A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 163683 chr12 32137639 32137639 A G RESF1 Synonymous SNV E1250E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.292 163684 chr22 18567938 18567938 C T rs149153003 PEX26 Nonsynonymous SNV A243V 0.007 0.008 0.014 1 8 3 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 10.51 163685 chr1 62672304 62672304 T A L1TD1 Nonsynonymous SNV S2T 0.005 0 0 0 6 0 0 0 0 0 0 0 16.69 163686 chr22 19124938 19124938 G A rs117976088 ESS2 Synonymous SNV N311N 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 Benign 4.282 163687 chr22 19279160 19279160 G A rs371789769 CLTCL1 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 163688 chr22 19748714 19748714 G A rs148928907 TBX1 Synonymous SNV V107V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.74 163689 chr22 19956121 19956121 G A rs536538848 COMT Synonymous SNV A176A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.909 163690 chr20 55027815 55027815 G T rs148921681 CASS4 Nonsynonymous SNV R474L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 23.3 163691 chr19 9069983 9069983 A G MUC16 Synonymous SNV T5821T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.029 163692 chr22 22868593 22868593 G - rs567384587 ZNF280A K455Sfs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 163693 chr3 47459637 47459637 T C rs757544896 SCAP Nonsynonymous SNV I557V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 163694 chr19 9213406 9213406 G A rs770460384 OR7G2 Synonymous SNV L193L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.207 163695 chr19 9225605 9225605 T C rs758567454 OR7G1 Nonsynonymous SNV T279A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.064 163696 chr6 105388364 105388364 G C rs71572240 LIN28B-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 4.373 163697 chr6 108478637 108478637 G C rs375568360 OSTM1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 11.73 163698 chr22 25597401 25597401 C G rs147831812 CRYBB3 Nonsynonymous SNV A13G 0.006 0 0 0 7 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 163699 chr3 52563279 52563279 G A rs149462855 NT5DC2 Nonsynonymous SNV R102C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 163700 chr3 52623136 52623136 T C rs200477547 PBRM1 Nonsynonymous SNV N972S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 163701 chr6 110778065 110778065 C T rs145653089 SLC22A16 Nonsynonymous SNV S70N 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.832 163702 chr22 28397275 28397275 C T rs55753016 TTC28-AS1 0.006 0.018 0.014 2 7 7 0.005 4 0 0 0 0 4.607 163703 chr6 111368569 111368569 C T rs182113736 GSTM2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.108 163704 chr6 111695631 111695631 C A rs3218595 REV3L Nonsynonymous SNV Q1309H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.32 163705 chr6 114378432 114378432 T A rs149977661 HS3ST5 Nonsynonymous SNV N344Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 163706 chr20 39791857 39791857 C T rs199669312 PLCG1 Nonsynonymous SNV P244L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 163707 chr22 30733826 30733826 T C rs200567491 SF3A1 Nonsynonymous SNV M602V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 163708 chr20 42252537 42252537 G C rs149821266 IFT52 Nonsynonymous SNV D259H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 32 163709 chr6 119136518 119136518 C T rs55779481 MCM9 Synonymous SNV P967P 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 8.777 163710 chr6 119136530 119136530 G A rs117470188 MCM9 Synonymous SNV D963D 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 2.874 163711 chr22 31530371 31530371 A C INPP5J Nonsynonymous SNV H561P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 163712 chr22 32017016 32017016 G A rs762934328 PISD Synonymous SNV T210T 0.003 0 0 0 3 0 0 0 0 0 0 0 4.56 163713 chr3 64582593 64582593 G A rs374058008 ADAMTS9 Synonymous SNV N1336N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.627 163714 chr1 110655511 110655511 G A rs753318297 UBL4B Nonsynonymous SNV E119K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.19 163715 chr22 32198724 32198724 C T rs769811295 DEPDC5 Synonymous SNV D299D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 163716 chr6 131490263 131490263 G T rs61756669 AKAP7 Nonsynonymous SNV A147S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 163717 chr22 36007041 36007041 G A MB Nonsynonymous SNV L70F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 163718 chr6 133802672 133802672 G C EYA4 Nonsynonymous SNV G294R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.3 163719 chr1 115220538 115220538 A G rs542940189 AMPD1 Nonsynonymous SNV I435T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.4 163720 chr6 134638586 134638586 C T SGK1 Nonsynonymous SNV D5N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 163721 chr22 39710211 39710211 A G rs11547996 RPL3 Synonymous SNV I284I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.362 163722 chr22 39884436 39884436 G A rs151160334 MGAT3 Nonsynonymous SNV V362M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 163723 chr22 39884925 39884925 C T rs200557788 MGAT3 Nonsynonymous SNV R525W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.4 163724 chr6 138745908 138745908 G A rs191967640 NHSL1 Synonymous SNV H1381H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.148 163725 chr12 56090740 56090740 G A rs760968207 ITGA7 Synonymous SNV T112T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.98 163726 chr6 142455037 142455037 G A rs1002450510 GJE1 Synonymous SNV S30S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.565 163727 chr22 38368268 38368268 G C rs539986431 POLR2F Nonsynonymous SNV V109L 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 0.008 163728 chr6 143081579 143081579 T C rs376423805 HIVEP2 Nonsynonymous SNV N1949S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 163729 chr12 56638556 56638556 C T rs978832958 ANKRD52 Nonsynonymous SNV A868T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 163730 chr22 39479831 39479831 G A rs780901950 APOBEC3G Nonsynonymous SNV R159H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 163731 chr1 89658600 89658600 C T rs758362147 GBP4 Synonymous SNV L219L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 163732 chr22 42089630 42089630 A G rs138061605 C22orf46 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.36 163733 chr20 57766232 57766232 T G ZNF831 Nonsynonymous SNV V53G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 163734 chr6 152786447 152786447 T C rs62427038 SYNE1 Synonymous SNV Q633Q 0.002 0.013 0.01 1 2 5 0.003 3 0 1 0 0 Benign/Likely benign 2.7 163735 chr20 17639923 17639923 T C rs12481272 RRBP1 Synonymous SNV K410K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.501 163736 chr22 44528826 44528826 C T rs61756768 PARVB Synonymous SNV A153A 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 21.3 163737 chr6 15496644 15496644 G A rs149943687 JARID2 Synonymous SNV A224A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 163738 chr22 45258344 45258344 G A rs140567858 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV G391S 0.005 0 0 0 6 0 0 0 0 0 0 0 1.324 163739 chr21 43733698 43733698 G A TFF3 Synonymous SNV C56C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.99 163740 chr12 80943396 80943396 A G rs757316770 PTPRQ Nonsynonymous SNV M1218V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 163741 chr12 81536892 81536892 G T rs148832122 ACSS3 Nonsynonymous SNV V262F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 163742 chr20 23016854 23016854 C A rs35136964 SSTR4 Nonsynonymous SNV A245D 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 163743 chr20 23016855 23016855 T G rs35129943 SSTR4 Synonymous SNV A245A 0.003 0 0 0 4 0 0 0 0 0 0 0 5.246 163744 chr6 160903811 160903811 G A rs200113748 LPAL2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.966 163745 chr12 88502903 88502903 T C rs773007151 CEP290 Nonsynonymous SNV Y808C 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Uncertain significance 25.7 163746 chr20 61885735 61885735 G T rs58426104 FLJ16779 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.613 163747 chr4 126237849 126237849 A T rs202107203 FAT4 Nonsynonymous SNV T95S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 163748 chr22 50904608 50904608 C T rs201776298 SBF1 Nonsynonymous SNV A291T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 24.8 163749 chr22 50902844 50902844 G A SBF1 Synonymous SNV L556L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.391 163750 chr21 47549222 47549222 G A rs151149694 COL6A2 Synonymous SNV T858T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.95 163751 chr6 168710882 168710882 C T rs773399129 DACT2 Synonymous SNV P38P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 163752 chr20 8717743 8717743 G A rs139095432 PLCB1 Synonymous SNV L704L 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 11.08 163753 chr2 101874370 101874370 A G rs201617284 CNOT11 Nonsynonymous SNV N211S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.476 163754 chr20 2688636 2688636 G A EBF4 Nonsynonymous SNV R149Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 163755 chr20 2774959 2774959 G A CPXM1 Synonymous SNV F620F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.771 163756 chr12 105591542 105591542 C T rs781079481 APPL2 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.3 163757 chr20 30358252 30358252 C G rs142491998 TPX2 Nonsynonymous SNV L155V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.388 163758 chr12 108920092 108920092 C T rs764331130 SART3 Synonymous SNV P718P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.462 163759 chr20 31380545 31380545 C T rs150148922 DNMT3B Synonymous SNV I269I 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 163760 chr6 26423429 26423429 G A rs181452627 BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.248 163761 chr20 31656653 31656653 G A BPIFB3 Synonymous SNV L341L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.233 163762 chr12 109863751 109863751 G T rs757315908 MYO1H Nonsynonymous SNV V560L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 163763 chr6 27219717 27219717 G T rs376340080 PRSS16 Synonymous SNV T302T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 163764 chr20 31984585 31984585 G C rs746432401 CDK5RAP1 Nonsynonymous SNV L96V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.872 163765 chr4 159627826 159627826 T C rs764164607 ETFDH Nonsynonymous SNV I444T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.4 163766 chr4 160260395 160260395 C T rs771809655 RAPGEF2 Nonsynonymous SNV P647L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.5 163767 chr4 165878492 165878492 C G rs138873080 FAM218A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.098 163768 chr20 34085765 34085765 A G CEP250 Nonsynonymous SNV Q543R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.294 163769 chr21 36171733 36171733 G A rs767251526 RUNX1 Nonsynonymous SNV P251S 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 20.5 163770 chr4 169172114 169172114 T G rs374320846 DDX60 Synonymous SNV G1283G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.357 163771 chr4 169296636 169296636 A C rs371051884 DDX60L Nonsynonymous SNV L1509V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.155 163772 chr12 113534534 113534534 C G rs373457698 DTX1 Synonymous SNV L551L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.826 163773 chr12 113825686 113825686 G A rs940587566 PLBD2 Nonsynonymous SNV R494H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 163774 chr12 113873231 113873231 G A rs986842124 SDSL Nonsynonymous SNV G181R 0 0 0 1 0 0 0.003 0 0 0 0 0 28 163775 chr2 11798766 11798766 A G NTSR2 Nonsynonymous SNV Y358H 0.003 0 0 0 3 0 0 0 0 0 0 0 24 163776 chr2 119915685 119915685 G A C1QL2 Nonsynonymous SNV P54L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.96 163777 chr20 46292204 46292204 G A rs749651576 SULF2 Synonymous SNV F740F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.081 163778 chr21 42866439 42866439 C T rs61735791 TMPRSS2 Nonsynonymous SNV A65T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.457 163779 chr12 121175855 121175855 C T rs373999618 ACADS Nonsynonymous SNV P159L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.395 163780 chr2 128393894 128393894 G A MYO7B Nonsynonymous SNV V2014M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 163781 chr2 127657576 127657576 T C rs763541440 TEX51 Synonymous SNV N125N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.012 163782 chr2 128884998 128884998 A G UGGT1 Nonsynonymous SNV M400V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.866 163783 chr4 184368216 184368216 A G rs200973636 CDKN2AIP Nonsynonymous SNV N460S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.002 163784 chr20 49226172 49226172 G T RIPOR3 Nonsynonymous SNV P172T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.52 163785 chr12 122691792 122691792 C T rs750947312 B3GNT4 Nonsynonymous SNV R307W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 163786 chr12 123097751 123097751 C T rs551424378 KNTC1 Synonymous SNV L1905L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.6 163787 chr22 30768119 30768139 GCAGGTGCAGCAGCTGGAGGA - rs752824336 CCDC157 E400_E406del 0.002 0 0 0 2 0 0 0 0 0 0 0 163788 chr6 39053758 39053758 A C rs138405478 GLP1R Nonsynonymous SNV K434T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 163789 chr12 124458568 124458568 - CAAATCCAAGAGACACATCTTTGGAAGATAAGAGAGCTTCTTCAAGACCAAAAAAGGAGACGGCATGA ZNF664, ZNF664-RFLNA 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 163790 chr12 125302200 125302200 A G rs143093152 SCARB1 Synonymous SNV P60P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 163791 chr22 32628964 32628964 T C rs199595781 SLC5A4 Nonsynonymous SNV I315V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.38 163792 chr4 25665936 25665936 C T SLC34A2 Synonymous SNV A120A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 163793 chr12 132624216 132624216 G A rs554480269 DDX51 Synonymous SNV Y646Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.071 163794 chr22 18028220 18028220 C T rs377160585 CECR2 Synonymous SNV C917C 0.003 0 0 0 4 0 0 0 0 0 0 0 7.982 163795 chr6 46644398 46644398 C T rs913131215 SLC25A27 Nonsynonymous SNV S240F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 163796 chr22 18028323 18028323 T G rs376045788 CECR2 Nonsynonymous SNV F952V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 163797 chr2 162934064 162934064 G A rs539924359 DPP4-DT 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.32 163798 chr2 163055300 163055300 C T rs780875561 FAP Nonsynonymous SNV D432N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 163799 chr2 160885433 160885433 T A rs745439228 PLA2R1 Nonsynonymous SNV N295Y 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 163800 chr22 20040976 20040976 C T TANGO2 Synonymous SNV H94H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.827 163801 chr2 166535588 166535588 G A rs3731765 CSRNP3 Synonymous SNV T361T 0.006 0 0 2 7 0 0.005 0 0 0 0 0 Benign 2.491 163802 chr2 166767913 166767913 C G rs80225158 TTC21B Synonymous SNV L795L 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 Benign/Likely benign 11.68 163803 chr2 166781158 166781158 G A rs2163649 TTC21B Nonsynonymous SNV L473F 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 Benign/Likely benign 15.39 163804 chr2 167313382 167313382 C T rs769300641 SCN7A Nonsynonymous SNV E430K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 163805 chr20 57042425 57042425 G A rs758650859 APCDD1L Nonsynonymous SNV R160W 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24 163806 chr1 228295697 228295697 C T rs76046017 MRPL55 Nonsynonymous SNV G39S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 18.32 163807 chr2 168997254 168997254 C A STK39 Nonsynonymous SNV A215S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 163808 chr20 57766742 57766742 C A ZNF831 Nonsynonymous SNV P223H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.253 163809 chr2 169626082 169626082 G A rs566046243 CERS6 Synonymous SNV P355P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.01 163810 chr6 53516623 53516623 C A rs369732814 KLHL31 Nonsynonymous SNV V560F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 163811 chr13 23914172 23914172 G C SACS Synonymous SNV G1134G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 163812 chr13 24410470 24410470 T C MIPEP Nonsynonymous SNV D521G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 163813 chr13 24798333 24798333 C T rs17080462 SPATA13 Synonymous SNV S422S 0.004 0 0.01 1 5 0 0.003 3 1 0 0 0 13.55 163814 chr13 24798565 24798565 G A rs7324542 SPATA13 Nonsynonymous SNV E500K 0.004 0 0.01 1 5 0 0.003 3 1 0 0 0 25.5 163815 chr2 173429348 173429348 T C rs141025768 PDK1 Synonymous SNV N176N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.873 163816 chr4 48503659 48503659 G A rs201254825 FRYL Nonsynonymous SNV T2858M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 163817 chr6 7230561 7230561 G A rs149393874 RREB1 Synonymous SNV E743E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.49 163818 chr2 179398781 179398781 G A rs375625664 TTN Synonymous SNV Y25122Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.299 163819 chr2 179599300 179599300 G A TTN Nonsynonymous SNV A3840V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 163820 chr22 28194517 28194517 G A rs200288788 MN1 Nonsynonymous SNV S672L 0.003 0 0.007 0 4 0 0 2 0 0 0 0 24.5 163821 chr22 29627110 29627110 C T rs551008616 EMID1 Synonymous SNV P187P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11 163822 chr22 45221424 45221435 CCGCCGCGGCCC - ARHGAP8, PRR5-ARHGAP8 P184_P187del 0.003 0 0 0 3 0 0 0 0 0 0 0 163823 chr22 45258242 45258242 G T rs138849948 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV V357F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.77 163824 chr22 29735056 29735056 C T rs145640648 AP1B1 Nonsynonymous SNV G689S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.37 163825 chr1 232601117 232601117 C T rs371574240 SIPA1L2 Synonymous SNV P763P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.79 163826 chr1 232619569 232619569 A G rs755603058 SIPA1L2 Synonymous SNV F650F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.05 163827 chr6 7883412 7883412 G A rs139736017 TXNDC5 Nonsynonymous SNV R314C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 163828 chr6 82461465 82461465 C G rs138694074 TENT5A Nonsynonymous SNV D132H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 163829 chr4 6302601 6302601 G A rs147157374 WFS1 Nonsynonymous SNV C360Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25 163830 chr20 62319055 62319055 C T rs373058034 RTEL1 Synonymous SNV G248G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.37 163831 chr20 62319919 62319919 G A rs116900568 RTEL1 Synonymous SNV P364P 0.008 0.016 0.007 2 9 6 0.005 2 0 0 0 0 Benign 10.46 163832 chr22 31330134 31330134 T C rs41279975 MORC2 Synonymous SNV E746E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 2.28 163833 chr6 99817489 99817489 T - rs747897261 COQ3 K366Sfs*2 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 163834 chr22 36205949 36205949 C A rs375007449 RBFOX2 Nonsynonymous SNV V44L 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 23 163835 chr7 100189294 100189294 G A rs145888227 FBXO24 Synonymous SNV T97T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.403 163836 chr7 100253098 100253098 G A rs771663262 ACTL6B Synonymous SNV L72L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 163837 chr7 100283081 100283081 G A rs145356671 GIGYF1 Nonsynonymous SNV P360S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.7 163838 chr21 19169247 19169247 G A rs202099162 C21orf91 Synonymous SNV L106L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.03 163839 chr7 100411639 100411639 G A rs55682161 EPHB4 Synonymous SNV S531S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.302 163840 chr13 76197427 76197427 C T rs373855252 LMO7 Stop gain Q66X 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 163841 chr22 38119860 38119928 GCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGT - TRIOBP S442_S464del 0.004 0 0 1 5 0 0.003 0 0 0 0 0 163842 chr4 76442052 76442052 G A rs34942800 THAP6 Nonsynonymous SNV G51S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.2 163843 chr4 76447056 76447056 A G rs777858301 THAP6 Synonymous SNV Q133Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.787 163844 chr4 77069474 77069474 G A rs35442986 NUP54 Synonymous SNV T18T 0.008 0.01 0.007 2 9 4 0.005 2 0 0 0 0 17.93 163845 chr2 105959375 105959375 A G rs764545446 C2orf49 Nonsynonymous SNV I113V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 163846 chr2 201800610 201800610 T G rs537366754 ORC2 Synonymous SNV R174R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.625 163847 chr4 77250101 77250101 C T rs199507822 CCDC158 Nonsynonymous SNV A984T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 5.382 163848 chr22 39222574 39222574 G A rs139762084 NPTXR Synonymous SNV P343P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.52 163849 chr13 97639048 97639048 G A rs144365402 OXGR1 Synonymous SNV S322S 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 0.13 163850 chr22 39908419 39908419 C T rs2232088 MIEF1 Nonsynonymous SNV R169W 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 34 163851 chr2 202619288 202619288 T C rs147284131 ALS2 Synonymous SNV T526T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 7.587 163852 chr22 40066117 40066117 C T rs55968092 CACNA1I Synonymous SNV L1388L 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 Benign 12.14 163853 chr13 102480228 102480228 A G rs74121044 FGF14 Synonymous SNV P156P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.671 163854 chr13 103381817 103381817 G A CCDC168 Nonsynonymous SNV T7077I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.351 163855 chr2 203807653 203807653 A G CARF Nonsynonymous SNV Y78C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 163856 chr1 197887000 197887000 G T LHX9 Nonsynonymous SNV R16L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 163857 chr22 41562656 41562656 A G EP300 Nonsynonymous SNV K1261R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 163858 chr13 103385707 103385707 A G rs759743755 CCDC168 Synonymous SNV F5780F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.029 163859 chr2 196723441 196723441 C T rs758648350 DNAH7 Synonymous SNV E2608E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.53 163860 chr4 8242483 8242483 G A rs141783565 SH3TC1 Nonsynonymous SNV G1195D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 163861 chr22 42457056 42457056 C T rs121434529 NAGA Nonsynonymous SNV E325K 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 163862 chr22 43524584 43524586 AAG - rs764457484 BIK K115del 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 163863 chr2 201354826 201354826 A G rs751288905 KCTD18 Synonymous SNV N426N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.248 163864 chr22 45128149 45128149 C T rs752935264 PRR5 Nonsynonymous SNV R50C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 163865 chr2 210804285 210804285 C T rs78714720 UNC80 Synonymous SNV H2119H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.19 163866 chr2 203817321 203817321 C T rs192573972 CARF Nonsynonymous SNV R28C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 163867 chr13 113838699 113838699 C T PCID2 Nonsynonymous SNV V216I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 163868 chr7 100647840 100647840 G A MUC12 Nonsynonymous SNV A4666T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.426 163869 chr2 215884115 215884115 C T rs376206913 ABCA12 Synonymous SNV P216P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.987 163870 chr4 91234140 91234140 A G CCSER1 Nonsynonymous SNV E484G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 163871 chr7 103155683 103155683 C T rs201264902 RELN Nonsynonymous SNV G2690S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 163872 chr7 104752886 104752886 G A rs751370825 KMT2E Synonymous SNV Q1561Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.105 163873 chr7 104782877 104782877 T G rs772617954 SRPK2 Nonsynonymous SNV E363A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.18 163874 chr7 1062656 1062656 C T rs72631831 MIR339 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 163875 chr1 206681162 206681162 C A RASSF5 Nonsynonymous SNV A76D 0 0 0 2 0 0 0.005 0 0 0 0 0 13.63 163876 chr21 46117286 46117286 G A rs782600326 KRTAP10-12 Nonsynonymous SNV R57H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.1 163877 chr22 50682847 50682847 G A rs146878404 TUBGCP6 Synonymous SNV A14A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.53 163878 chr7 113519267 113519267 C T rs35067467 PPP1R3A Nonsynonymous SNV R627K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 163879 chr21 46687560 46687560 G A POFUT2 Nonsynonymous SNV L361F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.4 163880 chr2 219919971 219919971 C G rs748831066 IHH Nonsynonymous SNV E398D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 10.14 163881 chr2 21360387 21360387 A C TDRD15 Synonymous SNV T16T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 163882 chr2 21362204 21362204 A G TDRD15 Nonsynonymous SNV N622S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.93 163883 chr7 120972015 120972015 G A rs17143296 WNT16 Synonymous SNV R200R 0.02 0.013 0.041 2 23 5 0.005 12 0 0 0 0 9.187 163884 chr5 112769842 112769842 C T rs192780356 TSSK1B Nonsynonymous SNV R232H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 163885 chr1 32256376 32256376 C T SPOCD1 Nonsynonymous SNV S640N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.46 163886 chr14 21992124 21992124 C G rs779338622 SALL2 Nonsynonymous SNV E578Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 163887 chr2 153575994 153575994 A G rs146233601 ARL6IP6 Synonymous SNV Q32Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.082 163888 chr2 100915330 100915330 G T rs116702638 LONRF2 Nonsynonymous SNV H482N 0.007 0.013 0.007 2 8 5 0.005 2 0 0 0 0 11.55 163889 chr2 220435396 220435396 C A OBSL1 Nonsynonymous SNV G187C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 163890 chr14 22951916 22951916 T A rs55819636 LOC105370401 0.003 0.003 0.007 2 4 1 0.005 2 1 0 0 0 7.437 163891 chr14 23345560 23345560 C A rs767166332 LRP10 Nonsynonymous SNV A468D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 163892 chr2 225672458 225672458 C T rs748717004 DOCK10 Nonsynonymous SNV G1204D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 163893 chr22 19163972 19163972 G A rs781956694 SLC25A1 Synonymous SNV D268D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.811 163894 chr22 19704812 19704812 C T rs115225717 SEPT5-GP1BB 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.036 163895 chr22 19711468 19711468 G A rs574497337 GP1BB Synonymous SNV G34G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.32 163896 chr2 160885415 160885415 C T rs113724146 PLA2R1 Nonsynonymous SNV A301T 0.005 0 0 0 6 0 0 0 0 0 0 0 15.63 163897 chr1 217793484 217793484 C T rs140815718 GPATCH2 Synonymous SNV G138G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.46 163898 chr22 29182234 29182234 T C rs769875611 CCDC117 Nonsynonymous SNV S236P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.74 163899 chr2 166747438 166747438 T A TTC21B Nonsynonymous SNV D1004V 0.006 0 0 0 7 0 0 0 0 0 0 0 25.1 163900 chr14 24846020 24846020 C G rs748873080 NFATC4 Synonymous SNV S789S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.41 163901 chr14 31609135 31609135 T C rs906954730 HECTD1 Nonsynonymous SNV H981R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 163902 chr22 31484055 31484055 G A rs115471701 SMTN Synonymous SNV K108K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.2 163903 chr14 39594237 39594237 T C rs568067159 GEMIN2 Synonymous SNV N187N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.618 163904 chr1 223396865 223396865 T C SUSD4 Synonymous SNV L390L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.954 163905 chr2 234669797 234669797 G A rs748685520 UGT1A1 Synonymous SNV Q288Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 163906 chr2 178364363 178364363 A C rs148418568 AGPS Synonymous SNV P460P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.648 163907 chr7 142568568 142568568 A G rs55747184 EPHB6 Nonsynonymous SNV I701V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.176 163908 chr14 39900857 39900857 C A rs116458322 FBXO33 Nonsynonymous SNV E170D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.1 163909 chr22 27003907 27003907 T C CRYBB1 Synonymous SNV T126T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.218 163910 chr14 50100463 50100463 A T rs202079418 DNAAF2 Nonsynonymous SNV C469S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.009 163911 chr22 30415963 30415963 T C rs766677621 MTMR3 Nonsynonymous SNV L772P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.046 163912 chr22 30660421 30660421 C T OSM Synonymous SNV L49L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.548 163913 chr2 133538651 133538651 C T rs72989577 NCKAP5 Nonsynonymous SNV D1675N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.27 163914 chr2 133540634 133540634 G C rs74900692 NCKAP5 Synonymous SNV S1250S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.763 163915 chr2 133541422 133541422 T A rs61746887 NCKAP5 Nonsynonymous SNV T988S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 163916 chr14 57268903 57268903 C T rs147896150 OTX2 Synonymous SNV P148P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.758 163917 chr14 58605904 58605904 C T rs753983009 ARMH4 Nonsynonymous SNV S58N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.372 163918 chr7 150554563 150554563 G A rs377335071 AOC1 Synonymous SNV Q335Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.299 163919 chr22 32215070 32215070 G A rs573430885 DEPDC5 Nonsynonymous SNV V549I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24.6 163920 chr22 32841915 32841915 C T rs78469100 BPIFC Nonsynonymous SNV R148Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.57 163921 chr22 39813842 39813842 G A rs146524765 TAB1 Nonsynonymous SNV V180I 0.002 0 0 0 2 0 0 0 0 0 0 0 22 163922 chr2 183621138 183621138 A G rs376768488 DNAJC10 Nonsynonymous SNV Y538C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 163923 chr2 242038985 242038985 G A rs35437554 MTERF4 Nonsynonymous SNV R116W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 163924 chr2 242051808 242051808 C T rs370099607 PASK Nonsynonymous SNV R1134H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 163925 chr7 151860470 151860470 G A rs746034306 KMT2C Nonsynonymous SNV R3398W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 163926 chr22 37273825 37273825 C T rs367876433 NCF4 Nonsynonymous SNV T327M 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 18.09 163927 chr7 154876006 154876006 G A rs371458123 HTR5A Nonsynonymous SNV V295M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 163928 chr22 42189899 42189899 C A rs755830315 MEI1 Synonymous SNV R1138R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.9 163929 chr5 148384346 148384346 C G rs144873879 SH3TC2 Synonymous SNV L1265L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.05 163930 chr22 43023366 43023366 C T rs766291356 CYB5R3 Nonsynonymous SNV A193T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.2 163931 chr22 38161714 38161714 C T rs201724032 TRIOBP Nonsynonymous SNV S408L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 163932 chr2 242757937 242757937 C G rs200439365 NEU4 Nonsynonymous SNV R353G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.794 163933 chr22 44011784 44011784 C T rs149447547 EFCAB6 Synonymous SNV A676A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.35 163934 chr14 68050566 68050566 C T rs200119528 PLEKHH1 Nonsynonymous SNV R1179C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 163935 chr14 68244294 68244294 C T rs201010656 ZFYVE26 Synonymous SNV A1652A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.17 163936 chr5 150502549 150502549 C T rs201960506 ANXA6 Nonsynonymous SNV D356N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 24 163937 chr2 26697443 26697443 A G rs150782952 OTOF Nonsynonymous SNV Y386H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.92 163938 chr22 45691541 45691541 G A rs749368484 UPK3A Nonsynonymous SNV V148M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 26.3 163939 chr2 242063514 242063514 C T PASK Synonymous SNV Q918Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.723 163940 chr2 168105290 168105290 A G rs368010805 XIRP2 Nonsynonymous SNV Q2241R 0.003 0 0.007 0 3 0 0 2 0 0 0 0 22.7 163941 chr2 29294163 29294163 G C rs184281410 PCARE Nonsynonymous SNV P989A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 163942 chr2 25141329 25141329 G C rs773378456 ADCY3 Synonymous SNV V176V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.04 163943 chr1 236987512 236987512 C T rs146019467 MTR Synonymous SNV P286P 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign/Likely benign 15.12 163944 chr5 158743751 158743751 G C IL12B Nonsynonymous SNV A310G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.4 163945 chr2 175301139 175301139 C T rs775917213 GPR155 Nonsynonymous SNV G745D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 163946 chr2 36986167 36986167 G A VIT Synonymous SNV S155S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.49 163947 chr2 37208793 37208793 T C rs752630857 HEATR5B Nonsynonymous SNV H2019R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 163948 chr14 77948970 77948970 G A rs142992777 ISM2 Nonsynonymous SNV S223L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 163949 chr5 167957001 167957001 G A rs772544616 FBLL1 Synonymous SNV V164V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.13 163950 chr2 101564796 101564796 C A NPAS2 Nonsynonymous SNV P155T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.88 163951 chr2 101869576 101869576 G A rs376358542 CNOT11 Synonymous SNV G50G 0.006 0 0.007 0 7 0 0 2 0 0 0 0 0.084 163952 chr2 20974705 20974705 T C LDAH Synonymous SNV G69G 0.009 0 0 3 10 0 0.008 0 0 0 0 0 7.764 163953 chr2 210559702 210559702 C T rs570922955 MAP2 Synonymous SNV S932S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 163954 chr2 210658533 210658533 T G UNC80 Nonsynonymous SNV D296E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.6 163955 chr22 46780561 46780561 G A CELSR1 Synonymous SNV D2254D 0.005 0 0 0 6 0 0 0 0 0 0 0 0.732 163956 chr14 91942842 91942842 C T rs752568401 PPP4R3A Synonymous SNV A101A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.65 163957 chr2 216269176 216269176 G A rs78262627 FN1 Synonymous SNV T1063T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.8 163958 chr2 36706675 36706675 T C CRIM1 Nonsynonymous SNV Y404H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 163959 chr2 54080960 54080960 A T rs757262012 GPR75 Nonsynonymous SNV S312T 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 163960 chr2 37449580 37449580 C T rs201714596 CEBPZ Nonsynonymous SNV D670N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.234 163961 chr2 217559355 217559355 G C rs1038958208 IGFBP5 Synonymous SNV V48V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.83 163962 chr2 110065649 110065649 C G rs201796718 SH3RF3 Nonsynonymous SNV Q618E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.95 163963 chr2 218941163 218941163 G A rs986507819 RUFY4 Nonsynonymous SNV G421E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.062 163964 chr2 219029921 219029921 G A rs776165099 CXCR1 Nonsynonymous SNV T5I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.006 163965 chr2 112786053 112786053 T C rs377341255 MERTK Nonsynonymous SNV I871T 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.9 163966 chr2 219294143 219294143 G A rs35721947 VIL1 Nonsynonymous SNV E235K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 2.489 163967 chr22 50913215 50913215 C G rs765666942 SBF1 Nonsynonymous SNV G19R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 163968 chr2 60689483 60689483 G A rs201796557 BCL11A Synonymous SNV H154H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.163 163969 chr22 51012969 51012969 C T rs201673605 CPT1B Nonsynonymous SNV A246T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 163970 chr2 47378565 47378565 G A rs74691655 STPG4 Synonymous SNV N77N 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 10.67 163971 chr2 68873356 68873356 G A rs372567384 PROKR1 Nonsynonymous SNV V135I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.016 163972 chr2 69399505 69399505 A - rs776756115 ANTXR1 Stop gain I367* 0.002 0 0 0 2 0 0 0 0 0 0 0 163973 chr1 248525051 248525051 G A rs146381320 OR2T4 Nonsynonymous SNV A57T 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 0.275 163974 chr7 5385392 5385392 G A rs765161788 TNRC18 Synonymous SNV D1840D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.443 163975 chr2 102038901 102038901 C G RFX8 Nonsynonymous SNV V36L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 163976 chr14 102457941 102457941 G A DYNC1H1 Synonymous SNV L982L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.89 163977 chr14 102732206 102732206 G A rs774789715 MOK Nonsynonymous SNV R56C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 163978 chr2 55461975 55461975 T C rs758424171 RPS27A Synonymous SNV T66T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.559 163979 chr2 106810680 106810680 C G rs544109654 UXS1 Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.584 163980 chr2 108863672 108863672 G A rs138968932 SULT1C3 Nonsynonymous SNV A8T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.427 163981 chr5 35779374 35779374 A C SPEF2 Nonsynonymous SNV K1458T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 163982 chr2 73718509 73718509 C G ALMS1 Nonsynonymous SNV D3140E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 163983 chr2 74177730 74177730 T A rs144181978 DGUOK Nonsynonymous SNV N57K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.7 163984 chr2 74275226 74275226 C G rs200012860 TET3 Nonsynonymous SNV P635A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.622 163985 chr2 202173901 202173901 C T rs377145516 FLACC1 Nonsynonymous SNV E250K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 163986 chr2 230875567 230875567 A G FBXO36 Synonymous SNV Q178Q 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.152 163987 chr2 136594610 136594610 T C rs764241747 LCT Nonsynonymous SNV S44G 0.004 0 0 0 5 0 0 0 0 0 0 0 0.003 163988 chr7 75610876 75610876 C T rs17853284 POR Nonsynonymous SNV P228L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 163989 chr7 75694121 75694121 C T rs145607211 MDH2 Synonymous SNV G203G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 15.64 163990 chr15 22833535 22833535 A T TUBGCP5 Nonsynonymous SNV H4L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 163991 chr5 477400 477400 G A rs376843480 SLC9A3-AS1 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 0.544 163992 chr15 23892505 23892505 T C rs188762916 MAGEL2 Nonsynonymous SNV M129V 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.655 163993 chr7 82581276 82581276 T C rs765195505 PCLO Nonsynonymous SNV N2998S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 163994 chr2 234198555 234198555 A G ATG16L1 Nonsynonymous SNV N257S 0.005 0 0 3 6 0 0.008 0 0 0 0 0 22.9 163995 chr2 88405975 88405975 G A rs139657612 SMYD1 Synonymous SNV S358S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 163996 chr2 75873984 75873984 G A rs375279679 MRPL19 Synonymous SNV R17R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.498 163997 chr5 54830426 54830426 G A rs750665277 PLPP1 Nonsynonymous SNV A11V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.37 163998 chr2 8953411 8953411 C G rs181372484 KIDINS220 Nonsynonymous SNV E121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.496 163999 chr15 33855157 33855157 G A rs577999387 RYR3 Synonymous SNV V364V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 164000 chr2 21234221 21234221 T C rs376731471 APOB Nonsynonymous SNV Y1840C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 164001 chr1 36933486 36933486 T C CSF3R Nonsynonymous SNV M601V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.21 164002 chr2 98996646 98996646 G A rs371232570 CNGA3 Nonsynonymous SNV R75H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 164003 chr5 65350029 65350029 C T ERBIN Synonymous SNV P961P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 5.599 164004 chr3 101568493 101568493 G A rs755558511 NFKBIZ Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 164005 chr8 104145561 104145561 C T rs62527602 BAALC-AS2, LINC01181 0 0 0.027 0 0 0 0 8 0 0 0 0 13.31 164006 chr5 72171533 72171533 G A TNPO1 Nonsynonymous SNV R207H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 164007 chr3 108391499 108391499 C G rs776063503 DZIP3 Nonsynonymous SNV A862G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 164008 chr15 41709388 41709388 A G RTF1 Synonymous SNV Q25Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.473 164009 chr3 10183822 10183822 C T VHL Synonymous SNV P97P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.4 164010 chr15 42162126 42162126 C T rs61741913 SPTBN5 Synonymous SNV T1922T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 15.78 164011 chr15 42177985 42177985 C T rs201349076 SPTBN5 Nonsynonymous SNV A490T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 164012 chr2 159488333 159488333 G A rs769826087 PKP4 Nonsynonymous SNV D408N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.9 164013 chr3 107497317 107497317 A G rs760883944 BBX Nonsynonymous SNV K382R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.097 164014 chr2 36706702 36706702 G A CRIM1 Nonsynonymous SNV G413R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 164015 chr3 125745289 125745289 C T rs962606355 SLC41A3 Nonsynonymous SNV V127M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 164016 chr2 44507990 44507990 C T rs140317484 SLC3A1 Nonsynonymous SNV T189M 0.005 0.005 0.003 4 6 2 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 164017 chr20 52611552 52611552 G A rs60878965 BCAS1 Nonsynonymous SNV T309M 0.004 0.003 0.017 1 5 1 0.003 5 0 0 1 0 24.1 164018 chr15 60742029 60742029 T C rs117980613 ICE2 Synonymous SNV E242E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 1.356 164019 chr15 62302676 62302676 G A VPS13C Nonsynonymous SNV P293S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 164020 chr3 129034666 129034666 G A rs148496535 H1-10 Nonsynonymous SNV S27L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.15 164021 chr1 64104434 64104434 C A rs200407907 PGM1 Nonsynonymous SNV S387R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 164022 chr8 144999850 144999850 C T rs565291398 PLEC Nonsynonymous SNV R1402H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.63 164023 chr2 238249366 238249366 T G rs140441798 COL6A3 Synonymous SNV P2124P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.018 164024 chr2 54876206 54876206 T C SPTBN1 Nonsynonymous SNV L1681P 0.002 0 0 0 2 0 0 0 0 0 0 0 33 164025 chr3 125872377 125872377 G A rs149145858 ALDH1L1 Synonymous SNV P155P 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 8.067 164026 chr8 145107468 145107468 G C rs782026761 OPLAH Nonsynonymous SNV R1063G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.402 164027 chr2 55589579 55589579 A G rs146374552 CCDC88A Synonymous SNV T164T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.182 164028 chr8 145246716 145246716 C T rs375964620 MROH1 Synonymous SNV L271L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 164029 chr8 145738720 145738720 C T rs758319706 RECQL4 Nonsynonymous SNV D782N 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 32 164030 chr1 74649143 74649143 T G rs1015353969 LRRIQ3 Nonsynonymous SNV K76Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.3 164031 chr2 239051535 239051535 C T rs750878152 KLHL30 Synonymous SNV P290P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.49 164032 chr2 64779830 64779830 G A rs200405875 AFTPH Nonsynonymous SNV D408N 0.003 0 0 0 3 0 0 0 0 0 0 0 15.8 164033 chr8 146171570 146171570 C T rs769737434 ZNF16 Nonsynonymous SNV R8H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 164034 chr3 130150503 130150503 C T rs199785094 COL6A5 Nonsynonymous SNV R1815C 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 1 29.5 164035 chr2 201342616 201342616 C T rs117996228 SPATS2L Synonymous SNV H444H 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 9.215 164036 chr2 71591142 71591142 C T rs201804622 ZNF638 Nonsynonymous SNV P493S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 164037 chr20 62173916 62173916 C T rs117606095 SRMS Nonsynonymous SNV V222M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 6.24 164038 chr1 87041255 87041255 G A rs201382001 CLCA4 Nonsynonymous SNV V642I 0 0 0 3 0 0 0.008 0 0 0 0 0 14.61 164039 chr15 78305292 78305292 G A rs773080972 TBC1D2B Synonymous SNV L715L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.59 164040 chr8 22079377 22079377 T C rs746608022 PHYHIP Nonsynonymous SNV Q161R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.059 164041 chr1 89414921 89414921 T C rs527950397 KYAT3 Nonsynonymous SNV M298V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 164042 chr3 139085592 139085592 G A rs148644997 COPB2 Nonsynonymous SNV P568S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23 164043 chr3 13916574 13916574 G A rs145281257 WNT7A Synonymous SNV P56P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.92 164044 chr2 74399850 74399850 G C MOB1A Nonsynonymous SNV P14R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 164045 chr2 74399863 74399863 T C MOB1A Nonsynonymous SNV K10E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 164046 chr3 141682739 141682739 C A rs1025563115 TFDP2 Nonsynonymous SNV A131S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.87 164047 chr3 142548536 142548536 G A rs551242432 PCOLCE2 Nonsynonymous SNV T288M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 15.35 164048 chr3 14485170 14485170 C T rs9879642 SLC6A6 Synonymous SNV L10L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.22 164049 chr15 81221512 81221512 G A rs113116775 CEMIP Nonsynonymous SNV G870D 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Uncertain significance 23.2 164050 chr15 83349646 83349646 G A AP3B2 Synonymous SNV V206V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 164051 chr2 27665608 27665609 TC - rs575937995 KRTCAP3 S65Cfs*66 0.002 0.003 0 0 2 1 0 0 0 0 0 0 164052 chr3 153912438 153912438 C G rs146072099 ARHGEF26 Nonsynonymous SNV I592M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.2 164053 chr3 154032888 154032888 A G DHX36 Synonymous SNV L184L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.22 164054 chr3 154834529 154834529 A T rs201333758 MME Nonsynonymous SNV E172D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.008 164055 chr8 31000144 31000144 C T rs3087414 WRN Nonsynonymous SNV S1079L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.436 164056 chr2 96962702 96962702 G A rs139286118 SNRNP200 Nonsynonymous SNV T495M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 164057 chr1 9780291 9780291 C T rs977705628 PIK3CD Synonymous SNV A458A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.09 164058 chr2 219127468 219127468 C G rs201145373 GPBAR1 Synonymous SNV G7G 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign 1.616 164059 chr8 38840041 38840041 A G rs745411832 HTRA4 Nonsynonymous SNV Y380C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 164060 chr3 101038670 101038670 G C IMPG2 Nonsynonymous SNV T31S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 164061 chr6 153296225 153296225 T C rs368700941 FBXO5 Nonsynonymous SNV N166S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 164062 chr20 13695644 13695644 T C ESF1 Synonymous SNV K811K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.417 164063 chr3 105586275 105586275 A C CBLB Synonymous SNV T77T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.644 164064 chr3 107517460 107517460 C T rs142474878 BBX Nonsynonymous SNV R479C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.669 164065 chr6 159398768 159398769 CT - RSPH3 E399Vfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 164066 chr8 67047241 67047241 G T rs61744335 TRIM55 Nonsynonymous SNV D120Y 0 0 0.007 0 0 0 0 2 0 0 0 0 29.1 164067 chr15 94884153 94884153 C T rs141771978 MCTP2 Synonymous SNV H323H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.61 164068 chr3 115805192 115805192 G T LSAMP Nonsynonymous SNV Q123K 0.003 0 0 0 4 0 0 0 0 0 0 0 23.3 164069 chr3 115805202 115805202 G T LSAMP Synonymous SNV P119P 0.003 0 0 0 4 0 0 0 0 0 0 0 5.969 164070 chr3 184633162 184633162 G A rs771742434 VPS8 Nonsynonymous SNV R748H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 164071 chr3 185200217 185200217 T C rs146756444 MAP3K13 Synonymous SNV N751N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.427 164072 chr3 185376164 185376164 G A rs145173270 IGF2BP2 Nonsynonymous SNV H306Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 164073 chr8 77764395 77764395 G A ZFHX4 Synonymous SNV T1746T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 164074 chr3 119236053 119236053 A G rs200592275 TIMMDC1 Nonsynonymous SNV T200A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.411 164075 chr15 100692937 100692937 C T rs143896591 ADAMTS17 Synonymous SNV T451T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.77 164076 chr3 121228465 121228465 G A rs144232035 POLQ Synonymous SNV D634D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 164077 chr2 64141415 64141415 T A VPS54 Synonymous SNV V733V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.35 164078 chr2 233320967 233320967 G A rs61736995 ALPI Nonsynonymous SNV V20I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 164079 chr3 188327190 188327190 - G LPP Frameshift insertion G226Wfs*20 0.003 0 0 0 3 0 0 0 0 0 0 0 164080 chr16 716494 716494 G A rs373898012 WDR90 Nonsynonymous SNV A1594T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 164081 chr3 195936290 195936290 G A rs200834357 ZDHHC19 Nonsynonymous SNV P122L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 164082 chr9 100132964 100132964 C T rs147095027 CCDC180 Synonymous SNV P1508P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 164083 chr3 194080906 194080906 G A rs144017832 LRRC15 Synonymous SNV F289F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.158 164084 chr3 20082002 20082121 CTGCGGGGCAGGAGCCGGGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCGCCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGGCGC - KAT2B A14_G53del 0.002 0 0 0 2 0 0 0 0 0 0 0 164085 chr3 128356807 128356807 A C rs768440696 RPN1 Nonsynonymous SNV F156L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 164086 chr9 111617428 111617428 - T ACTL7B Stop gain Y261* 0 0 0.003 0 0 0 0 1 0 0 0 0 164087 chr3 196281263 196281263 C T rs61730533 WDR53 Nonsynonymous SNV G138D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 164088 chr6 2693070 2693070 G A rs148551907 MYLK4 Synonymous SNV A61A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.168 164089 chr3 37670752 37670752 G A rs114129792 ITGA9 Synonymous SNV E588E 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 8.98 164090 chr9 113137732 113137732 G A rs202177526 SVEP1 Nonsynonymous SNV L3506F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.7 164091 chr20 39792023 39792023 G A rs777969777 PLCG1 Synonymous SNV L265L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 6.452 164092 chr9 114132769 114132769 G C rs202094874 ECPAS Synonymous SNV T1640T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.177 164093 chr16 2029096 2029096 C G rs749101315 NOXO1 Nonsynonymous SNV R362P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.06 164094 chr3 27763628 27763628 T G EOMES Nonsynonymous SNV K53T 0.002 0 0 0 2 0 0 0 0 0 0 0 23 164095 chr3 100002503 100002503 A G rs540028785 TBC1D23 Synonymous SNV E108E 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 11.24 164096 chr3 33868159 33868159 T C rs552759626 PDCD6IP Synonymous SNV Y268Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.149 164097 chr3 38173456 38173456 G C rs145935424 ACAA1 Nonsynonymous SNV Q122E 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 164098 chr6 36238323 36238323 G A rs770164167 PNPLA1 Synonymous SNV A29A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 8.661 164099 chr16 3487011 3487011 G A ZNF597 Nonsynonymous SNV H230Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 164100 chr9 117844066 117844066 T G rs16932195 TNC Synonymous SNV R797R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 7.493 164101 chr9 117849229 117849229 C T rs61736826 TNC Nonsynonymous SNV G261S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 25.1 164102 chr3 44369849 44369849 A G rs146327039 TOPAZ1 Nonsynonymous SNV I1595V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.3 164103 chr6 37186480 37186480 G A rs149247937 TMEM217 Synonymous SNV V109V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.07 164104 chr6 39041496 39041496 G A rs200132876 GLP1R Synonymous SNV S258S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.395 164105 chr20 5086917 5086917 C T rs1055543199 TMEM230 Nonsynonymous SNV A47T 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 164106 chr3 46871907 46871907 C T PRSS42P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 164107 chr2 29295588 29295588 G A rs762977292 PCARE Nonsynonymous SNV P514S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 164108 chr9 126144424 126144424 C T rs139597680 DENND1A Nonsynonymous SNV G784R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.259 164109 chr3 48638472 48638472 T C rs144710790 UQCRC1 Nonsynonymous SNV N301S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 22.8 164110 chr6 42851247 42851247 G T rs148678082 RPL7L1 Nonsynonymous SNV W69L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.67 164111 chr9 128121735 128121735 A G rs140099938 GAPVD1 Synonymous SNV V1309V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.49 164112 chr3 45811751 45811751 C T rs199831562 SLC6A20 Nonsynonymous SNV E313K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.06 164113 chr9 130586620 130586620 T C rs932659087 ENG Nonsynonymous SNV D366G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.5 164114 chr3 16358506 16358506 A G rs71310334 RFTN1 Synonymous SNV P522P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.022 164115 chr3 50323906 50323906 C T rs782784099 LSMEM2 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 164116 chr3 50378235 50378235 A G rs779731944 RASSF1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 164117 chr3 5229809 5229809 C T EDEM1 Nonsynonymous SNV R107W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 164118 chr3 47454419 47454419 T C rs150037620 PTPN23 Nonsynonymous SNV L1426P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 9.932 164119 chr2 46603764 46603764 T A rs150797491 EPAS1 Nonsynonymous SNV F374Y 0.007 0.005 0 2 8 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.3 164120 chr3 52472164 52472164 - GTGCAGCCGCAGCTGGGCCAC rs747656665 SEMA3G H520_Q521insVAQLRLH 0.001 0 0 0 1 0 0 0 0 0 0 0 164121 chr3 52546885 52546885 C T STAB1 Synonymous SNV A1023A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 164122 chr3 52554892 52554892 C T rs761753155 STAB1 Nonsynonymous SNV R1927C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 164123 chr2 54284468 54284468 C T ACYP2 Nonsynonymous SNV T52I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.501 164124 chr2 54482977 54482977 C A rs114346583 TSPYL6 Synonymous SNV S104S 0.007 0.008 0.01 1 8 3 0.003 3 0 0 0 0 Likely benign 15.55 164125 chr16 22320826 22320826 G A rs141905390 POLR3E Nonsynonymous SNV R84K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.89 164126 chr2 55573453 55573453 G A rs769621745 CCDC88A Nonsynonymous SNV S300L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.1 164127 chr16 22825984 22825984 G C HS3ST2 Nonsynonymous SNV R18P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 164128 chr16 22926780 22926780 A T HS3ST2 Nonsynonymous SNV H334L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 164129 chr9 134165410 134165410 G A rs148406586 PLPP7 Nonsynonymous SNV R9H 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 25.7 164130 chr16 23364238 23364238 C T rs199810483 SCNN1B Nonsynonymous SNV S143F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 164131 chr16 23366706 23366706 C T rs370430705 SCNN1B Synonymous SNV T224T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 164132 chr3 53857400 53857400 C T rs749066657 CHDH Synonymous SNV P212P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 164133 chr2 61715313 61715313 T C rs146348437 XPO1 Nonsynonymous SNV N767S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 12.73 164134 chr3 52853420 52853420 C T rs143285865 ITIH4 Nonsynonymous SNV R659H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.248 164135 chr3 126747095 126747095 G A rs772947536 PLXNA1 Synonymous SNV T1527T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 164136 chr6 56481659 56481659 G A rs771032986 DST Synonymous SNV P2202P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.55 164137 chr16 30748993 30748993 C T SRCAP Synonymous SNV P2544P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.682 164138 chr3 69273822 69273822 C A rs199633729 FRMD4B Nonsynonymous SNV D201Y 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 164139 chr9 139221577 139221577 G T DKFZP434A062 0 0 0.003 0 0 0 0 1 0 0 0 0 5.64 164140 chr3 132361605 132361605 A G ACAD11 Synonymous SNV I97I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.354 164141 chr3 193272443 193272444 GT - ATP13A4-AS1 0.007 0 0.017 2 8 0 0.005 5 4 0 2 1 164142 chr2 95952312 95952312 G - PROM2 S678Tfs*28 0.003 0 0 0 3 0 0 0 0 0 0 0 164143 chr2 96780554 96780554 C T rs752731456 ADRA2B Synonymous SNV T445T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.11 164144 chr6 7579876 7579876 G A DSP Synonymous SNV E1151E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 6.961 164145 chr16 50344603 50344603 C T rs147203890 ADCY7 Synonymous SNV Y722Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.527 164146 chr2 97359671 97359671 G A FER1L5 Synonymous SNV R1166R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.739 164147 chr9 139399252 139399252 T C rs990403823 NOTCH1 Nonsynonymous SNV I1631V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 164148 chr9 139620333 139620333 C T rs72761015 SNHG7 0 0 0.014 0 0 0 0 4 0 0 0 0 11.6 164149 chr9 139621272 139621272 T G rs201632813 SNHG7, SNORA17A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.12 164150 chr3 195595033 195595033 C T rs768623108 TNK2 Synonymous SNV P729P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.113 164151 chr2 86352984 86352984 A G rs748736643 PTCD3 Nonsynonymous SNV E311G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 164152 chr3 98188537 98188537 G C rs368471971 OR5K1 Synonymous SNV V39V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.207 164153 chr3 196674974 196674974 G A rs759251329 PIGZ Nonsynonymous SNV A265V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 164154 chr3 96706208 96706208 G C rs192891419 EPHA6 Nonsynonymous SNV R162T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.85 164155 chr21 32554789 32554789 C T rs200840977 TIAM1 Nonsynonymous SNV G921S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.8 164156 chr2 88888321 88888321 C T rs145427892 EIF2AK3 Nonsynonymous SNV A271T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21 164157 chr9 140115004 140115004 C T rs756946385 RNF208 Nonsynonymous SNV A221T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.48 164158 chr9 140356405 140356405 G C PNPLA7 Nonsynonymous SNV P1220R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.485 164159 chr2 98996723 98996723 C G rs767017804 CNGA3 Nonsynonymous SNV R101G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.8 164160 chr9 140446674 140446674 C T MRPL41 Synonymous SNV G47G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 164161 chr21 39671534 39671534 G A rs150956930 KCNJ15 Synonymous SNV A117A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.734 164162 chr21 43165999 43165999 G A rs554261668 RIPK4 Synonymous SNV L286L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.68 164163 chr4 113362131 113362131 C T rs372126392 ALPK1 Synonymous SNV S1121S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 164164 chr4 114232454 114232454 T C rs138641014 ANK2 Synonymous SNV P73P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.099 164165 chr21 44313454 44313454 C T rs77606940 NDUFV3 Nonsynonymous SNV P4L 0 0 0 3 0 0 0.008 0 0 0 0 0 4.624 164166 chr3 41723112 41723112 G A rs766866767 ULK4 Synonymous SNV L653L 0.005 0 0 0 6 0 0 0 0 0 0 0 13.34 164167 chr16 75513041 75513041 T C rs527884169 CHST6 Nonsynonymous SNV N229S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.934 164168 chr16 75563591 75563591 C T rs563406171 CHST5 Nonsynonymous SNV R231H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 164169 chr3 16638306 16638306 G A DAZL Nonsynonymous SNV T170I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 164170 chr21 46032075 46032075 T - KRTAP10-8 C20Afs*60 0.001 0 0 1 1 0 0.003 0 0 0 0 0 164171 chr21 46702293 46702293 C T rs759590287 POFUT2 Synonymous SNV A203A 0 0 0 6 0 0 0.015 0 0 0 0 0 11.36 164172 chr3 44684683 44684683 C T rs201527284 ZNF197, ZNF660-ZNF197 Synonymous SNV F474F 0.005 0.005 0 0 6 2 0 0 0 0 0 0 12.69 164173 chr9 5920884 5920884 G A rs573643287 KIAA2026 Synonymous SNV L1704L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.908 164174 chr3 180377337 180377337 C T rs368553676 CCDC39 Nonsynonymous SNV R214H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 164175 chr16 84213909 84213909 C T rs368337073 TAF1C Synonymous SNV P144P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.21 164176 chr4 146076833 146076833 C T rs753844957 OTUD4 Synonymous SNV L167L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.754 164177 chr4 147560458 147560469 GGCGGCGGCGGC - rs771187205 POU4F2 G65_G68del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 164178 chr4 147560469 147560469 - GGC POU4F2 G68_R69insG 0.003 0.003 0 0 3 1 0 0 0 0 0 0 164179 chr3 184009901 184009901 G A rs141593192 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV D696N 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 33 164180 chr22 19504060 19504060 G A rs751887434 CDC45 Nonsynonymous SNV R438Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 164181 chr22 19707654 19707654 G A rs200503937 SEPTIN5 Synonymous SNV T94T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.23 164182 chr22 19751777 19751777 G A rs778071107 TBX1 Synonymous SNV A204A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.83 164183 chr9 79318675 79318675 G A rs374821515 PRUNE2 Synonymous SNV S2618S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.737 164184 chr4 153897064 153897064 C A rs751399130 FHDC1 Nonsynonymous SNV A874D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 164185 chr3 184612664 184612664 T A VPS8 Nonsynonymous SNV V639E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 164186 chr4 144618007 144618007 C T rs781032551 FREM3 Synonymous SNV E1274E 0.003 0 0 0 3 0 0 0 0 0 0 0 9.942 164187 chr4 155241937 155241937 G A rs146199349 DCHS2 Synonymous SNV D1538D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.261 164188 chr9 95094559 95094559 C T rs150818648 CENPP Nonsynonymous SNV T72M 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 23.4 164189 chr3 127387302 127387302 C T rs774705511 PODXL2 Nonsynonymous SNV R409W 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 164190 chr4 159630924 159630924 A G rs61748170 PPID Synonymous SNV D359D 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 10.5 164191 chr3 193061809 193061809 C T rs147928745 ATP13A5 Nonsynonymous SNV G284R 0.003 0 0 0 3 0 0 0 0 0 0 0 33 164192 chr9 95841819 95841819 C T SUSD3 Synonymous SNV G101G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 164193 chr9 977443 977443 C A rs1023606643 DMRT3 Nonsynonymous SNV L148I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 164194 chr9 99145885 99145885 - CCTCGG rs767857232 SLC35D2 E10_G11insAE 0 0 0.01 0 0 0 0 3 0 0 0 0 164195 chr22 25251516 25251516 A G rs138255291 SGSM1 Nonsynonymous SNV I224V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.76 164196 chr4 159790391 159790391 C T rs369953843 FNIP2 Nonsynonymous SNV A514V 0.003 0 0 0 3 0 0 0 0 0 0 0 15.72 164197 chr3 195594524 195594524 G A TNK2 Nonsynonymous SNV S899F 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.8 164198 chr4 174223282 174223282 T C rs35177744 GALNT7 Synonymous SNV I411I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.435 164199 chrX 12905948 12905948 A G TLR7 Nonsynonymous SNV N774S 0 0 0.007 0 0 0 0 2 0 0 1 0 16.83 164200 chr4 177142728 177142728 G A rs61748176 ASB5 Synonymous SNV G136G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.6 164201 chr4 17506026 17506026 C A rs147257284 QDPR Nonsynonymous SNV A60S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 26.9 164202 chrX 132161587 132161587 T A USP26 Nonsynonymous SNV Q221L 0.003 0.003 0.007 0 3 1 0 2 1 0 1 0 0.066 164203 chrX 132161597 132161597 G A USP26 Stop gain R218X 0.003 0.003 0.007 0 3 1 0 2 1 0 1 0 25.1 164204 chr3 134967172 134967172 C T rs143367042 EPHB1 Synonymous SNV I837I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 17.03 164205 chr4 185615780 185615780 T G rs150917934 PRIMPOL Nonsynonymous SNV D426E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.311 164206 chr17 1401330 1401330 G A rs200622226 INPP5K Nonsynonymous SNV P288L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.784 164207 chr4 1823966 1823966 T G LETM1 Nonsynonymous SNV D517A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.096 164208 chr3 141162999 141162999 G A rs767199699 ZBTB38 Nonsynonymous SNV R590Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.103 164209 chr7 140268565 140268565 T C DENND2A Nonsynonymous SNV K530R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 164210 chr7 141736025 141736025 G A MGAM Synonymous SNV R672R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 164211 chrX 23018270 23018270 G C rs756605669 DDX53 Nonsynonymous SNV W32C 0 0 0.007 0 0 0 0 2 0 0 1 0 0.385 164212 chrX 23019792 23019792 T C rs201459158 DDX53 Nonsynonymous SNV Y540H 0 0 0.007 0 0 0 0 2 0 0 1 0 23.7 164213 chr3 38770050 38770050 C - SCN10A V777Cfs*2 0.003 0.005 0 0 3 2 0 0 0 0 0 0 164214 chr3 97852472 97852472 G A rs751206050 OR5H1 Nonsynonymous SNV V311I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 164215 chr3 97887628 97887628 T C rs760462853 OR5H15 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 164216 chr22 37466562 37466562 G A rs765274163 TMPRSS6 Synonymous SNV R601R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.34 164217 chr3 40574550 40574550 T A ZNF621 Nonsynonymous SNV V430D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.06 164218 chr4 1936897 1936897 C A rs139753036 NSD2 Nonsynonymous SNV H528N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 17.6 164219 chr4 2746458 2746458 G A TNIP2 Nonsynonymous SNV A184V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 164220 chr4 2252871 2252871 C T rs149607377 MXD4 Nonsynonymous SNV V138M 0.003 0 0 0 3 0 0 0 0 0 0 0 16.89 164221 chr4 3255155 3255155 G A rs761903647 MSANTD1 Nonsynonymous SNV R181H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 164222 chr22 38522445 38522445 G C rs758332232 PLA2G6 Nonsynonymous SNV L400V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.041 164223 chr4 266171 266171 G A rs115069723 ZNF732 Nonsynonymous SNV R159C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.3 164224 chr4 106888385 106888385 G C NPNT Synonymous SNV G433G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.505 164225 chr4 110481550 110481550 C G MCUB Synonymous SNV T19T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.585 164226 chr17 4893223 4893223 G A rs989947881 INCA1 Nonsynonymous SNV P54S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.44 164227 chr4 37435515 37435515 T A rs762308370 NWD2 Nonsynonymous SNV N193K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.267 164228 chr17 5359499 5359499 C T rs752261859 DHX33 Nonsynonymous SNV A112T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 164229 chr7 150839000 150839000 T G AGAP3 Nonsynonymous SNV F276C 0.01 0.01 0 0 12 4 0 0 0 0 0 0 23.7 164230 chr10 103900450 103900450 G A rs200991271 PPRC1 Nonsynonymous SNV V729I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.125 164231 chr10 104111654 104111654 G C rs775082668 GBF1 Nonsynonymous SNV V157L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 164232 chr3 183368864 183368864 C T rs746256967 KLHL24 Synonymous SNV A240A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 164233 chr3 47041834 47041834 C T rs371129706 NBEAL2 Synonymous SNV D1381D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 13.65 164234 chr4 467805 467805 C G rs782204359 ABCA11P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.636 164235 chr3 47552643 47552643 A - rs779396596 ELP6 L43Pfs*30 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 164236 chr4 47538835 47538835 G A ATP10D Nonsynonymous SNV A426T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 164237 chr3 48465448 48465448 C T rs374562347 PLXNB1 Synonymous SNV P191P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.285 164238 chr3 184294683 184294683 A G EPHB3 Nonsynonymous SNV I356V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.451 164239 chr10 115338424 115338424 C T rs41292628 HABP2 Stop gain R177X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 164240 chr3 49169106 49169106 G A rs149856537 LAMB2 Synonymous SNV R170R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign/Likely benign 6.556 164241 chr4 55561810 55561810 C G rs144933028 KIT Nonsynonymous SNV T67S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.65 164242 chr4 56830477 56830477 T C CEP135 Nonsynonymous SNV V246A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.423 164243 chr4 57180824 57180824 T G rs755678719 CRACD Nonsynonymous SNV L386V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.367 164244 chr10 11560554 11560554 G C USP6NL Nonsynonymous SNV H76D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 164245 chr4 56770652 56770652 G C rs748872795 EXOC1 Nonsynonymous SNV Q877H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 164246 chr17 9828812 9828812 C T rs79756942 GAS7 Synonymous SNV R233R 0.002 0 0 6 2 0 0.015 0 0 0 0 0 16.4 164247 chr4 144507033 144507033 C T rs78440529 FREM3 Nonsynonymous SNV V2048M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.1 164248 chr3 52257873 52257873 G A rs150111769 TLR9 Synonymous SNV T153T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.986 164249 chr4 144617316 144617316 C T rs7654410 FREM3 Nonsynonymous SNV E1505K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.43 164250 chr4 144617347 144617347 G C rs61729867 FREM3 Nonsynonymous SNV N1494K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 164251 chr7 24901371 24901371 A G OSBPL3 Synonymous SNV S265S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.306 164252 chr4 144619088 144619088 G T rs77099184 FREM3 Nonsynonymous SNV T914N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 164253 chr4 144620908 144620908 G A rs78943264 FREM3 Synonymous SNV P307P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.396 164254 chr4 146806989 146806989 T C ZNF827 Nonsynonymous SNV N530D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 164255 chr3 53883710 53883710 T C rs139545260 IL17RB Synonymous SNV H38H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.003 164256 chr10 12280468 12280468 T C rs373454189 CDC123 Nonsynonymous SNV I234T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 164257 chr3 32030659 32030659 G A rs191554699 ZNF860 Nonsynonymous SNV A30T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 164258 chr10 123600629 123600629 C T rs139300996 ATE1 Synonymous SNV S279S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 164259 chr22 50897702 50897702 C T rs200910134 SBF1 Nonsynonymous SNV A1271T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.99 164260 chr17 17398563 17398563 T A rs550585475 RASD1 Nonsynonymous SNV D241V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 164261 chr3 37092019 37092019 G A rs35831931 MLH1 Nonsynonymous SNV V358M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 24.6 164262 chr3 38159475 38159475 C T rs200651210 DLEC1 Nonsynonymous SNV A1558V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.753 164263 chr10 129216799 129216799 C T rs2296626 DOCK1 Synonymous SNV Y1562Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 164264 chr10 129537196 129537196 C T rs775324826 FOXI2 Synonymous SNV H308H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 164265 chr17 19648426 19648426 T C rs200717464 ALDH3A1 Nonsynonymous SNV E6G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.4 164266 chr10 129910583 129910583 G A rs146457849 MKI67 Nonsynonymous SNV R235C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.43 164267 chr7 4260912 4260912 G A rs754648325 SDK1 Nonsynonymous SNV A402T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.487 164268 chr3 98538066 98538066 T C rs141370463 DCBLD2 Nonsynonymous SNV N356S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 13.89 164269 chr3 98620075 98620075 G A rs375557857 DCBLD2 Synonymous SNV L32L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.317 164270 chr17 26944341 26944341 - T rs765312316 SPAG5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 164271 chr17 26944342 26944342 - G rs758688411 SPAG5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 164272 chr2 118688685 118688685 C T rs76075041 CCDC93 Synonymous SNV Q590Q 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 12.35 164273 chr4 843725 843725 C T GAK Synonymous SNV V1184V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.67 164274 chr3 46415289 46415289 T C CCR5 Nonsynonymous SNV F299S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 164275 chr3 46486841 46486841 C T rs147094293 LTF Nonsynonymous SNV V438M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 164276 chr4 184427447 184427447 G C rs57401069 ING2 Nonsynonymous SNV G10R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.543 164277 chr4 186357271 186357271 G A rs552620415 C4orf47 Nonsynonymous SNV R131Q 0.003 0 0 0 3 0 0 0 0 0 0 0 10.22 164278 chr3 46783996 46783996 G C PRSS45P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.243 164279 chr3 40573556 40573556 A G rs117655885 ZNF621 Nonsynonymous SNV I99V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.004 164280 chr4 89183791 89183791 A T rs149239581 PPM1K Nonsynonymous SNV F359I 0.004 0 0 5 5 0 0.013 0 0 0 0 0 25.7 164281 chr4 187118692 187118692 G A rs61745524 CYP4V2 Nonsynonymous SNV A204T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 164282 chr17 34340866 34340866 A G rs151273610 CCL23 Nonsynonymous SNV S74P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 164283 chr17 36490658 36490658 G A rs748544453 GPR179 Synonymous SNV F571F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.061 164284 chr5 10239295 10239295 G A rs201120944 ATPSCKMT Stop gain R64X 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 38 164285 chr5 1036482 1036482 C A rs35679233 NKD2 Nonsynonymous SNV T257K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.2 164286 chr7 5752463 5752463 G A rs199668867 RNF216 Nonsynonymous SNV T622M 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 164287 chr3 49940081 49940081 A G rs199936316 MST1R Nonsynonymous SNV L321P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 25.2 164288 chr3 45772865 45772865 A T rs768158285 SACM1L Nonsynonymous SNV M271L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 164289 chr5 111576424 111576424 T C rs187777656 EPB41L4A Synonymous SNV T293T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.556 164290 chr4 3475314 3475314 C T rs377025553 DOK7 Synonymous SNV H94H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 11.56 164291 chr3 52181012 52181012 C T rs140930295 POC1A Synonymous SNV E185E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.79 164292 chr5 115815887 115815887 G A rs200583335 SEMA6A Nonsynonymous SNV T394M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 164293 chr3 49053695 49053695 G A DALRD3 Nonsynonymous SNV R409C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 164294 chr3 49055291 49055291 C G DALRD3 Nonsynonymous SNV R158P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.4 164295 chr17 39464336 39464336 C T KRTAP16-1 Synonymous SNV T390T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.683 164296 chr5 123980164 123980164 T C rs113873110 ZNF608 Nonsynonymous SNV K1299R 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 10.24 164297 chr17 39471606 39471606 T C rs763369742 KRTAP17-1 Synonymous SNV T99T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.843 164298 chr10 50531605 50531605 G A rs767466362 C10orf71 Nonsynonymous SNV A339T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 164299 chr5 133956671 133956671 T G rs146601760 SAR1B Nonsynonymous SNV M44L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 164300 chr10 51556824 51556824 T G MSMB Synonymous SNV T61T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.397 164301 chr5 134050828 134050828 A G SEC24A Nonsynonymous SNV R948G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 164302 chr4 48514581 48514581 G A rs373229077 FRYL Nonsynonymous SNV R2688C 0.007 0 0 2 8 0 0.005 0 0 0 0 0 35 164303 chr4 147561447 147561447 C G rs373594627 POU4F2 Nonsynonymous SNV H239Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 164304 chr4 52948659 52948659 A - SPATA18 T263Pfs*13 0.003 0 0 0 3 0 0 0 0 0 0 0 164305 chr4 52948660 52948660 C T SPATA18 Nonsynonymous SNV T263I 0.003 0 0 0 3 0 0 0 0 0 0 0 33 164306 chr4 54231644 54231644 A T SCFD2 Nonsynonymous SNV H155Q 0.007 0 0 2 8 0 0.005 0 0 0 0 0 3.701 164307 chr4 147830349 147830349 A G rs144287902 TTC29 Nonsynonymous SNV Y77H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 164308 chr4 149075889 149075889 C T rs144234574 NR3C2 Synonymous SNV Q726Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 9.2 164309 chr3 81548296 81548296 C T rs193074572 GBE1 Nonsynonymous SNV A673T 0.003 0 0.014 0 4 0 0 4 0 0 0 0 Benign/Likely benign 15.67 164310 chr17 40368089 40368089 G A STAT5B Synonymous SNV G472G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 164311 chr2 178364451 178364451 A G AGPS Nonsynonymous SNV K490E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 164312 chr4 165878113 165878113 G T rs370871964 FAM218A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.681 164313 chr10 71654442 71654442 A G rs763718921 COL13A1 Synonymous SNV G167G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 164314 chr10 72358611 72358611 G A rs150628656 PRF1 Nonsynonymous SNV T289M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.43 164315 chr8 105367264 105367264 C T rs62620995 DCSTAMP Nonsynonymous SNV L397F 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 25.3 164316 chr17 45994049 45994049 A G rs117736384 SP2 Synonymous SNV T204T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.944 164317 chr8 10555226 10555226 G A rs141492052 C8orf74 Nonsynonymous SNV R120H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.17 164318 chr8 106431420 106431420 A G rs121908601 ZFPM2 Nonsynonymous SNV E30G 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Likely benign 24 164319 chr17 46058612 46058612 A G rs61758369 CDK5RAP3 Nonsynonymous SNV Q231R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 164320 chr8 106456600 106456600 G A rs202217256 ZFPM2 Nonsynonymous SNV D45N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 25.2 164321 chr4 103188797 103188797 G C rs777578335 SLC39A8 Nonsynonymous SNV S294R 0.003 0 0 0 4 0 0 0 0 0 0 0 26 164322 chr10 73121904 73121904 T C rs1026895082 SLC29A3 Nonsynonymous SNV Y245H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 164323 chr5 140798210 140798210 C A rs188546091 PCDHGB7 Nonsynonymous SNV L262M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 164324 chr17 46986057 46986057 G C UBE2Z Synonymous SNV P64P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 164325 chr10 73405688 73405688 G A rs561032891 CDH23 Nonsynonymous SNV R414Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 164326 chr4 72400088 72400088 A C SLC4A4 Nonsynonymous SNV K765Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.8 164327 chr4 73181637 73181637 G T rs139921635 ADAMTS3 Nonsynonymous SNV P513T 0.008 0.003 0.014 5 9 1 0.013 4 0 0 0 0 28.3 164328 chr10 73594215 73594215 C A rs144942998 PSAP Nonsynonymous SNV A30S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 15.13 164329 chr8 116426284 116426284 T C TRPS1 Synonymous SNV A1275A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.06 164330 chr17 48273335 48273335 A T rs375914028 COL1A1 Synonymous SNV G335G 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 12.52 164331 chr10 75556850 75556850 C T rs187927760 ZSWIM8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 164332 chr4 74847136 74847136 C G rs2233648 PF4 Synonymous SNV L81L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 9.866 164333 chr4 103488146 103488146 C A rs571739367 NFKB1 Synonymous SNV I86I 0.002 0.003 0.007 3 2 1 0.008 2 0 0 1 0 Likely benign 18.83 164334 chr8 121528283 121528283 A G rs746583445 MTBP Nonsynonymous SNV T700A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 164335 chr4 186353305 186353305 - A rs564059162 C4orf47 Frameshift insertion N93Kfs*9 0.003 0.003 0 0 4 1 0 0 0 0 0 0 164336 chr8 124664902 124664902 C T rs765090496 KLHL38 Nonsynonymous SNV V89I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 164337 chr8 125559253 125559253 T G rs757935794 NDUFB9 Nonsynonymous SNV C47G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.07 164338 chr5 150072556 150072558 CTT - rs751985126 RBM22 E344del 0.001 0 0 0 1 0 0 0 0 0 0 0 164339 chr8 139155281 139155281 C T rs544489806 FAM135B Synonymous SNV L1204L 0.003 0 0 0 4 0 0 0 0 0 0 0 12.15 164340 chr4 88583242 88583242 C T rs148543792 DMP1 Synonymous SNV D88D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.86 164341 chr2 208842154 208842154 G A rs71418661 PLEKHM3 Nonsynonymous SNV T256M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 164342 chr5 156929870 156929870 G A rs369868105 ADAM19 Nonsynonymous SNV R417W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 164343 chr17 71419546 71419546 T G SDK2 Nonsynonymous SNV I626L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.97 164344 chr2 214012467 214012467 T C rs61762988 IKZF2 Nonsynonymous SNV N35S 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 20.2 164345 chr5 15928225 15928225 G A rs375726815 FBXL7 Synonymous SNV P71P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 10.7 164346 chr17 72588684 72588684 G A rs781136951 C17orf77 Nonsynonymous SNV G167R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.27 164347 chr8 144589927 144589927 G C ZC3H3 Synonymous SNV L568L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 164348 chr5 16465400 16465400 C T rs113566156 ZNF622 Synonymous SNV K125K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.71 164349 chr17 73221327 73221327 C T rs765846176 NUP85 Nonsynonymous SNV L197F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.39 164350 chr2 219418441 219418441 G A USP37 Nonsynonymous SNV H55Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 164351 chr4 155491708 155491708 C T FGB Nonsynonymous SNV T402I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 164352 chr5 112926938 112926938 C T rs148010171 YTHDC2 Synonymous SNV F1042F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.66 164353 chr2 220032959 220032959 C T rs374273671 SLC23A3 Nonsynonymous SNV R242H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.085 164354 chr17 74150266 74150266 C T RNF157-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.552 164355 chr17 74276157 74276157 G A rs146485823 QRICH2 Nonsynonymous SNV R1403C 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 28.4 164356 chr4 57179420 57179420 G A rs551007533 CRACD Nonsynonymous SNV E138K 0.003 0 0 0 4 0 0 0 0 0 0 0 34 164357 chr4 57248685 57248685 T - AASDH K3Nfs*4 0.003 0 0 0 4 0 0 0 0 0 0 0 164358 chr4 164450083 164450083 C T rs78698798 MARCHF1 Synonymous SNV L212L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.73 164359 chr4 183812618 183812618 C T rs141501926 DCTD Synonymous SNV P168P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.66 164360 chr4 5991364 5991364 G A rs767180069 C4orf50 Synonymous SNV I624I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.351 164361 chr2 223917617 223917617 C T rs12720447 KCNE4 Synonymous SNV S74S 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 15.42 164362 chr11 108253772 108253772 C T rs75581571 C11orf65 Synonymous SNV T306T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 10.14 164363 chr11 108536011 108536011 C G rs149622934 DDX10 Nonsynonymous SNV P44R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 24.1 164364 chr5 32058114 32058114 C T rs141828981 PDZD2 Nonsynonymous SNV S702L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 164365 chr4 185018405 185018405 G A ENPP6 Synonymous SNV F370F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.03 164366 chr11 112104157 112104157 C T rs200712908 PTS Nonsynonymous SNV T106M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 32 164367 chr4 24578100 24578100 T C rs780222297 DHX15 Synonymous SNV S91S 0.003 0 0 0 4 0 0 0 0 0 0 0 1.045 164368 chr17 78286952 78286952 C T rs144083500 RNF213 Synonymous SNV Y932Y 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 4.996 164369 chr4 71347059 71347059 C G rs141318917 MUC7 Nonsynonymous SNV Q200E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 164370 chr2 231774725 231774725 C T rs767722127 GPR55 Nonsynonymous SNV R318Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.8 164371 chr4 72352703 72352703 G A rs145378038 SLC4A4 Nonsynonymous SNV E604K 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.022 164372 chr11 114320652 114320652 G A REXO2 Synonymous SNV K223K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 164373 chr17 78346830 78346830 G C rs116948489 RNF213 Synonymous SNV R4269R 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.439 164374 chr2 232577516 232577516 T G rs753332066 PTMA Nonsynonymous SNV D97E 0 0 0 1 0 0 0.003 0 0 0 0 0 19.75 164375 chr2 233406158 233406158 C T rs767254124 CHRNG Nonsynonymous SNV P142L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 164376 chr5 139906618 139906618 G A ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV R1682R 0.003 0 0 0 3 0 0 0 0 0 0 0 13.5 164377 chr2 233656153 233656153 G A GIGYF2 Nonsynonymous SNV D421N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.34 164378 chr8 22059342 22059342 G A rs117159093 BMP1 Nonsynonymous SNV G712S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 33 164379 chr17 79226014 79226014 G A rs137924826 SLC38A10 Synonymous SNV P642P 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 9.615 164380 chr2 234713694 234713694 C A MROH2A Nonsynonymous SNV S663R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 164381 chr5 483555 483555 G A SLC9A3 Synonymous SNV A325A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 164382 chr17 80042468 80042468 G C rs372701595 FASN Synonymous SNV L1563L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.618 164383 chr4 79421059 79421059 C T FRAS1 Synonymous SNV V3100V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.798 164384 chr17 80367286 80367286 G A rs143458096 OGFOD3 Synonymous SNV S127S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 15.26 164385 chr5 140773495 140773495 A T PCDHGA8 Nonsynonymous SNV H372L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 164386 chr5 140797443 140797443 C T PCDHGB7 Nonsynonymous SNV A6V 0.003 0 0 0 3 0 0 0 0 0 0 0 23 164387 chr5 59284347 59284347 C T rs113747615 PDE4D Synonymous SNV P80P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 164388 chr5 61874619 61874619 - A rs779198171 IPO11-LRRC70 0.002 0.003 0 0 2 1 0 0 0 0 0 0 164389 chr5 635674 635674 A G rs28605005 CEP72 Synonymous SNV P293P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.051 164390 chr5 55111195 55111195 C T rs373207863 DDX4 Nonsynonymous SNV P532S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.62 164391 chr5 55147452 55147452 G A rs140079651 IL31RA Synonymous SNV P18P 0.005 0.013 0.007 1 6 5 0.003 2 0 0 0 0 Benign 4.256 164392 chr5 55204331 55204331 T C rs73118497 IL31RA Synonymous SNV H531H 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 1.808 164393 chr5 141694701 141694701 G A rs373633980 SPRY4 Synonymous SNV F14F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.041 164394 chr8 38172292 38172292 C A NSD3 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 164395 chr8 41571751 41571751 C T rs151219976 ANK1 Nonsynonymous SNV V575M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 164396 chr5 71739660 71739660 A G ZNF366 Nonsynonymous SNV F720L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 164397 chr8 48889280 48889280 G A rs143217620 MCM4 Nonsynonymous SNV R845H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22.9 164398 chr11 124740063 124740063 C T rs200451819 ROBO3 Nonsynonymous SNV R257C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 164399 chr4 435611 435611 G A rs376247719 ZNF721 Nonsynonymous SNV A882V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.257 164400 chr8 54859263 54859263 T C RGS20 Nonsynonymous SNV I25T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.08 164401 chr11 125765922 125765922 A - PUS3 N86Kfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 164402 chr5 70945075 70945075 A T rs10064079 MCCC2 Synonymous SNV A418A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.044 164403 chr11 125770158 125770158 T C rs752716062 HYLS1 Nonsynonymous SNV S299P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 164404 chr5 72874899 72874899 C A rs372847214 UTP15 Synonymous SNV R212R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.2 164405 chr5 149998128 149998128 G A rs6579797 SYNPO Nonsynonymous SNV D67N 0.005 0 0.017 3 6 0 0.008 5 0 0 0 0 7.809 164406 chr5 78281018 78281018 C T rs142781021 ARSB Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.319 164407 chr4 5642259 5642259 C T rs137884710 EVC2 Synonymous SNV L404L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 10.19 164408 chr5 109202577 109202577 A G rs775643909 MAN2A1 Nonsynonymous SNV I1105V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.45 164409 chr11 1330957 1330957 A - rs143558857 TOLLIP-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 164410 chr18 30795623 30795623 T C rs141556619 CCDC178 Nonsynonymous SNV T619A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 164411 chr5 156770188 156770188 A T rs142914485 FNDC9 Synonymous SNV I119I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.014 164412 chr5 156936418 156936418 C T rs369469519 ADAM19 Nonsynonymous SNV G266R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.82 164413 chr5 891849 891849 T C BRD9 Nonsynonymous SNV M7V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 164414 chr4 65275037 65275037 T A rs148442292 TECRL Nonsynonymous SNV E11D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.86 164415 chr5 79797713 79797713 C T FAM151B Nonsynonymous SNV A43V 0.003 0 0 0 3 0 0 0 0 0 0 0 19.7 164416 chr5 80040391 80040391 C T rs771054581 MSH3 Nonsynonymous SNV R574W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 164417 chr8 97156849 97156849 T C rs376427985 GDF6 Nonsynonymous SNV N437S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 164418 chr18 43319171 43319171 G T rs771635749 SLC14A1 Nonsynonymous SNV C104F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 164419 chr2 32667148 32667148 C A rs746148214 BIRC6 Synonymous SNV A1320A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.61 164420 chr18 43446872 43446872 T C rs369070714 EPG5 Nonsynonymous SNV H2171R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 164421 chr4 6969067 6969067 C A TBC1D14 Nonsynonymous SNV D25E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.94 164422 chr5 96116126 96116126 C T rs762545794 ERAP1 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 164423 chr4 738426 738426 G T rs960588934 PCGF3 Nonsynonymous SNV A138S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.943 164424 chr5 176477828 176477828 C T rs41275291 ZNF346 Synonymous SNV V100V 0.004 0 0.01 5 5 0 0.013 3 0 0 0 0 14.6 164425 chr5 134223656 134223656 C T TXNDC15 Synonymous SNV N57N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 164426 chr5 96320895 96320895 A G rs746641341 LNPEP Synonymous SNV Q324Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.398 164427 chr5 137593366 137593366 C T rs747532548 GFRA3 Synonymous SNV L249L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 164428 chr5 138147939 138147939 C T rs28363394 CTNNA1 Nonsynonymous SNV A76V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.2 164429 chr11 33080565 33080565 C T TCP11L1 Synonymous SNV S233S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 164430 chr11 35640916 35640916 C A rs377240576 FJX1 Synonymous SNV R244R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.45 164431 chr18 67817948 67817948 C T RTTN Nonsynonymous SNV V651I 0 0 0 2 0 0 0.005 0 0 0 0 0 17.05 164432 chr18 67871389 67871389 A G rs372296200 RTTN Synonymous SNV D110D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.461 164433 chr5 140773625 140773625 C G PCDHGA8 Synonymous SNV V415V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.434 164434 chr6 119177587 119177587 C T rs151149424 MCM9 Synonymous SNV R424R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 16.78 164435 chr4 88731901 88731901 C A IBSP Synonymous SNV I130I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.97 164436 chr6 117715809 117715809 G A rs200113895 ROS1 Nonsynonymous SNV R317W 0.002 0 0 0 2 0 0 0 0 0 0 0 18.57 164437 chr3 16450919 16450919 G A rs111844340 RFTN1 Nonsynonymous SNV P135L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.717 164438 chr4 88996631 88996631 A C rs555280901 PKD2 Nonsynonymous SNV S898R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.89 164439 chr6 12163868 12163868 C T rs2228214 HIVEP1 Nonsynonymous SNV T2444M 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 15.12 164440 chr19 581576 581576 G A BSG Nonsynonymous SNV E172K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 164441 chr19 871947 871947 G A rs770670775 MED16 Nonsynonymous SNV L693F 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 164442 chr5 134018065 134018065 C T rs201167267 SEC24A Nonsynonymous SNV P462S 0.007 0 0.003 0 8 0 0 1 0 0 0 0 30 164443 chr9 127572278 127572278 C T rs746692815 OLFML2A Nonsynonymous SNV R302C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 164444 chr6 137814581 137814581 T C rs758248239 OLIG3 Nonsynonymous SNV I243V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 164445 chr5 112173632 112173632 C T rs1060503302 APC Nonsynonymous SNV P763S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.6 164446 chr9 128111775 128111775 G T rs148700558 GAPVD1 Synonymous SNV P1065P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.77 164447 chr2 9633884 9633884 T C rs140933944 ADAM17 Nonsynonymous SNV N662S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.1 164448 chr6 138753629 138753629 C A rs749979590 NHSL1 Nonsynonymous SNV G622V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.64 164449 chr5 13824403 13824403 G A DNAH5 Nonsynonymous SNV L2162F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 164450 chr6 139581542 139581542 C A rs149726889 TXLNB Synonymous SNV L305L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 164451 chr19 1370734 1370734 G C PWWP3A Nonsynonymous SNV C480S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 164452 chr2 98709679 98709679 C A rs200359284 VWA3B Nonsynonymous SNV L42M 0.001 0 0 6 1 0 0.015 0 0 0 0 0 16.5 164453 chr3 100951820 100951820 G A rs116450347 IMPG2 Nonsynonymous SNV P1013L 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 164454 chr5 140181841 140181841 A G rs537450462 PCDHA3 Synonymous SNV Q353Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.003 164455 chr5 140238141 140238141 T C PCDHA10 Synonymous SNV N836N 0.005 0.003 0 0 6 1 0 0 1 0 0 0 9.477 164456 chr19 2834442 2834442 C T rs141660745 ZNF554 Synonymous SNV T403T 0.004 0.003 0.01 5 5 1 0.013 3 0 0 0 0 Benign 14 164457 chr6 152555046 152555046 C T SYNE1 Nonsynonymous SNV S6790N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 164458 chr6 152784602 152784602 G A rs149670417 SYNE1 Synonymous SNV N668N 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Benign/Likely benign 11.28 164459 chr6 155450972 155450972 A G TIAM2 Synonymous SNV A205A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.299 164460 chr3 113563450 113563450 A C rs761336771 GRAMD1C Nonsynonymous SNV K43T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 164461 chr19 4442328 4442328 G A rs200881886 CHAF1A Synonymous SNV P920P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.146 164462 chr5 139227714 139227714 C T NRG2 Nonsynonymous SNV A715T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 164463 chr3 19924193 19924193 C T rs144894138 EFHB Nonsynonymous SNV R726Q 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 29.5 164464 chr5 149276328 149276328 C T rs951076582 PDE6A Synonymous SNV E473E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.7 164465 chr5 149360166 149360168 TTG - rs121908077 SLC26A2 V341del 0.003 0 0.007 0 3 0 0 2 0 0 0 0 164466 chr6 16327910 16327939 TGCTGATGCTGCTGCTGCTGCTGCTGCTGC - ATXN1 Q201_Q210del 0.001 0 0 0 1 0 0 0 0 0 0 0 164467 chr5 174949411 174949411 G T SFXN1 Nonsynonymous SNV V244F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.26 164468 chr3 122287775 122287775 C T rs150765058 DTX3L Nonsynonymous SNV T280I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.055 164469 chr5 140389301 140389301 C A PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2 Nonsynonymous SNV Q891K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 164470 chr5 176931251 176931251 G C rs61749656 DOK3 Synonymous SNV P352P 0.004 0 0 6 5 0 0.015 0 0 0 0 0 0.111 164471 chr5 140735473 140735473 A G PCDHGA4 Nonsynonymous SNV N267D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 164472 chr11 56185128 56185129 AT - OR5R1 M194Efs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 164473 chr3 124397141 124397141 G C KALRN Nonsynonymous SNV G735A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.779 164474 chr6 1742788 1742788 C T rs143104834 GMDS Synonymous SNV P238P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 164475 chr6 168708369 168708369 T A rs199901357 DACT2 Nonsynonymous SNV T520S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.69 164476 chr6 21065326 21065326 G A rs372282978 CDKAL1 Nonsynonymous SNV G368E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 164477 chr6 21595712 21595712 C T rs201864836 SOX4 Nonsynonymous SNV A316V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.7 164478 chr6 24596433 24596433 A C rs73727343 KIAA0319 Nonsynonymous SNV S112A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.264 164479 chr5 141044613 141044613 C T rs759275357 ARAP3 Synonymous SNV T892T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 164480 chr6 10751389 10751389 G T rs17849403 TMEM14B Nonsynonymous SNV G31W 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 26 164481 chr5 16465223 16465223 T G ZNF622 Nonsynonymous SNV E184D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 164482 chr11 5686140 5686140 T G rs142925424 TRIM5 Nonsynonymous SNV I461L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 164483 chr9 15874622 15874622 G T rs143658307 CCDC171 Nonsynonymous SNV M1195I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.28 164484 chr9 16419498 16419498 T C rs41268965 BNC2 Nonsynonymous SNV D835G 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 11.37 164485 chr5 34826544 34826544 C T rs376732905 RAI14 Nonsynonymous SNV A891V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.45 164486 chr11 5799046 5799046 A G rs570162187 OR52N5 Synonymous SNV F273F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.647 164487 chr5 35965939 35965939 A T UGT3A1 Nonsynonymous SNV M131K 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 164488 chr5 36984928 36984928 G A NIPBL Nonsynonymous SNV G549E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 164489 chr6 28269416 28269416 T G rs151181559 PGBD1 Nonsynonymous SNV D595E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.806 164490 chr11 59271477 59271477 C T rs115303060 OR4D11 Synonymous SNV A143A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.346 164491 chr9 36170252 36170252 C T rs61735207 CCIN Synonymous SNV T251T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.95 164492 chr5 52780902 52780902 G A rs748145800 FST Nonsynonymous SNV R266Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 164493 chr6 138745322 138745322 C G rs116110066 NHSL1 Nonsynonymous SNV A1577P 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 23.4 164494 chr6 138754552 138754552 G A rs116279633 NHSL1 Synonymous SNV I314I 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 10.4 164495 chr6 139159581 139159581 C T rs116211453 ECT2L Nonsynonymous SNV S91F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 not provided 31 164496 chr6 39047418 39047418 C T rs12212036 GLP1R Synonymous SNV H374H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 15.85 164497 chr6 4069805 4069805 A G rs778469858 FAM217A Nonsynonymous SNV Y218H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 164498 chr6 4099326 4099326 C A rs200932959 C6orf201 Nonsynonymous SNV P60T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 164499 chr11 62457946 62457946 G A rs369732238 BSCL2 Nonsynonymous SNV P428S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 164500 chr19 10221217 10221217 C T rs139102139 PPAN, PPAN-P2RY11 Nonsynonymous SNV R267W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 31 164501 chr19 10265002 10265002 G A rs377704053 DNMT1 Synonymous SNV N646N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.796 164502 chr6 43006170 43006170 C T rs781072333 CUL7 Synonymous SNV S1620S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 164503 chr5 176522367 176522367 C T FGFR4 Nonsynonymous SNV S479L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 164504 chr5 73931954 73931954 C T rs764284712 ENC1 Synonymous SNV S46S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.04 164505 chr11 64557709 64557709 C T rs751568547 MAP4K2 Synonymous SNV T725T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 164506 chr6 43405731 43405731 C G ABCC10 Synonymous SNV A617A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 164507 chr6 43515412 43515412 T G rs377740264 XPO5 Nonsynonymous SNV Y698S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 164508 chr6 43415637 43415637 C T rs144509707 ABCC10 Synonymous SNV D1279D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.8 164509 chr3 64579967 64579967 G A rs201072070 ADAMTS9 Synonymous SNV H1413H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 3.555 164510 chr9 95768445 95768445 G A rs533337603 FGD3 Nonsynonymous SNV V274I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.604 164511 chr19 13216110 13216110 T C rs759207662 TRMT1 Nonsynonymous SNV K573E 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 164512 chr11 64875342 64875342 G C VPS51 Synonymous SNV V191V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.194 164513 chr3 69230792 69230792 G A rs200135116 FRMD4B Synonymous SNV S703S 0.003 0.008 0 0 4 3 0 0 0 0 0 0 11.6 164514 chr6 152694331 152694331 A G rs777537352 SYNE1 Synonymous SNV N3123N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.753 164515 chr6 47645610 47645610 C T ADGRF2 Nonsynonymous SNV A103V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 164516 chr19 14083785 14083785 C T rs759956863 RFX1 Nonsynonymous SNV G362S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 164517 chr6 52130927 52130927 G A rs200641063 MCM3 Nonsynonymous SNV T444M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.3 164518 chr5 93752998 93752998 T A rs1026880655 KIAA0825 Nonsynonymous SNV Y857F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.51 164519 chr5 93856225 93856225 C T rs143278447 KIAA0825 Nonsynonymous SNV R233K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.625 164520 chr5 93990407 93990407 G A rs540386852 SLF1 Nonsynonymous SNV D369N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.43 164521 chrX 118227704 118227704 A G KIAA1210 Nonsynonymous SNV L470S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 164522 chr5 74400126 74400126 C - ANKRD31 C1696Lfs*4 0.003 0.003 0 0 4 1 0 0 0 0 0 0 164523 chr11 6739482 6739482 C T rs117145238 GVINP1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.192 164524 chr6 65300159 65300159 A G rs182322608 EYS Synonymous SNV S1867S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.141 164525 chr5 38962438 38962438 T C rs146754529 RICTOR Nonsynonymous SNV Y565C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.98 164526 chr5 79039694 79039694 G A rs141642606 CMYA5 Synonymous SNV L3561L 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Benign 12.83 164527 chr6 76720903 76720903 T G rs759788971 IMPG1 Nonsynonymous SNV K204N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 164528 chr6 79664552 79664552 C T rs773553141 PHIP Synonymous SNV P1344P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.36 164529 chr6 90468063 90468063 C A MDN1 Synonymous SNV L871L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 164530 chrX 152226742 152226742 G A rs202098633 PNMA3 Nonsynonymous SNV V444I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.047 164531 chr4 113359801 113359801 T C rs35756863 ALPK1 Nonsynonymous SNV L1039P 0.007 0.01 0 0 8 4 0 0 0 0 0 0 Benign 29.7 164532 chr6 88228551 88228551 G A rs372092585 RARS2 Synonymous SNV L257L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 164533 chr11 75277875 75277875 A C rs112083274 SERPINH1 Nonsynonymous SNV I161L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.4 164534 chr6 119341322 119341322 G A rs185811837 FAM184A Nonsynonymous SNV H265Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 164535 chr5 61602334 61602334 G A rs752517127 KIF2A Nonsynonymous SNV G12E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 164536 chr11 76890919 76890919 C T rs375510570 MYO7A Nonsynonymous SNV R836C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 164537 chr6 129618905 129618905 G A rs202050052 LAMA2 Nonsynonymous SNV D978N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 28.2 164538 chr11 784177 784177 C G rs553833582 LOC171391 0 0 0.007 0 0 0 0 2 0 0 0 0 3.444 164539 chr6 131962602 131962602 T C rs41285342 ENPP3 Nonsynonymous SNV L29P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 164540 chr5 73048886 73048886 G A rs776563290 ARHGEF28 Nonsynonymous SNV A112T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.823 164541 chr11 82549574 82549574 C T rs138336049 PRCP Nonsynonymous SNV D272N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 164542 chr11 82892074 82892074 A G rs369574667 PCF11 Synonymous SNV R1467R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.754 164543 chrX 37587488 37587488 T G rs145996031 XK Nonsynonymous SNV Y370D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.3 164544 chr19 35941111 35941111 C T rs756254906 FFAR2 Synonymous SNV Y165Y 0.003 0 0 4 3 0 0.01 0 0 0 0 0 7.07 164545 chr6 35773858 35773858 G A rs140326236 LHFPL5 Synonymous SNV A137A 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 0.002 164546 chr6 111694656 111694656 T C REV3L Synonymous SNV S1634S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.057 164547 chrX 48542707 48542707 G A WAS Synonymous SNV A56A 0.003 0 0 0 3 0 0 0 1 0 0 0 12.55 164548 chr5 78975444 78975444 T A TENT2 Synonymous SNV I374I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.85 164549 chr19 37316422 37316422 C G ZNF790-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.991 164550 chr6 123786121 123786121 G A rs769586528 TRDN Synonymous SNV S267S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.903 164551 chr12 100561360 100561360 C T rs147182760 GOLGA2P5 0 0 0.02 0 0 0 0 6 0 0 0 0 9.353 164552 chr7 100693838 100693838 G T MUC17 Nonsynonymous SNV D4266Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 164553 chr6 133032948 133032948 C T rs372773162 VNN1 Nonsynonymous SNV A81T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.3 164554 chr6 133783803 133783803 T G EYA4 Nonsynonymous SNV S155A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.186 164555 chr7 1037344 1037344 G C rs776335835 C7orf50 Nonsynonymous SNV R168G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 164556 chr6 137322833 137322833 C A rs143111644 IL20RA Nonsynonymous SNV E397D 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 11.68 164557 chr12 107372392 107372392 G A rs945153034 MTERF2 Nonsynonymous SNV T34I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 164558 chr19 40357659 40357659 T A FCGBP Synonymous SNV V5218V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.224 164559 chr6 107391607 107391607 C G rs781852720 BEND3 Nonsynonymous SNV G263A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.136 164560 chr7 11633116 11633116 C T rs61996274 THSD7A Nonsynonymous SNV E346K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.7 164561 chr3 47318803 47318803 T C KIF9 Nonsynonymous SNV H21R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 164562 chr7 119914962 119914962 C T KCND2 Synonymous SNV F92F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 164563 chr19 40885585 40885585 C T rs953234208 HIPK4 Nonsynonymous SNV R587Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 164564 chr3 47465457 47465457 C T rs766124980 SCAP Synonymous SNV P117P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.6 164565 chr7 120969671 120969671 A G rs200837511 WNT16 Nonsynonymous SNV N39S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.129 164566 chr10 105362298 105362298 A T SH3PXD2A Nonsynonymous SNV Y774N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 164567 chr7 103301928 103301928 C G rs56146903 RELN Nonsynonymous SNV E446Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.7 164568 chr10 105762643 105762643 G T rs56357599 SLK Synonymous SNV T569T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 3.875 164569 chr3 48460768 48460768 G A rs142945989 PLXNB1 Nonsynonymous SNV A906V 0 0 0 2 0 0 0.005 0 0 0 0 0 3.058 164570 chr6 110734601 110734601 A T rs778995397 DDO Nonsynonymous SNV I22N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.6 164571 chr12 112578821 112578821 G A rs114172135 TRAFD1 Nonsynonymous SNV V146I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.199 164572 chr19 42187937 42187937 T C rs782306408 CEACAM7 Nonsynonymous SNV D162G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.49 164573 chr6 116752236 116752236 T A DSE Nonsynonymous SNV Y264N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 164574 chr10 115480833 115480833 C G rs771060412 CASP7 Synonymous SNV T26T 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 6.004 164575 chr12 117718562 117718562 G A NOS1 Synonymous SNV L162L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 164576 chr12 118458758 118458758 C T rs34660755 RFC5 Synonymous SNV I105I 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 17.32 164577 chr6 155776028 155776028 C T rs149127858 NOX3 Nonsynonymous SNV A58T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 164578 chr10 116698039 116698039 G T TRUB1 Synonymous SNV V9V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 6.356 164579 chr6 170067231 170067231 C G rs751262764 WDR27 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 164580 chr6 7249177 7249177 C T rs997802389 RREB1 Synonymous SNV A1680A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.014 164581 chr6 127663513 127663513 C A ECHDC1 Nonsynonymous SNV A2S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.041 164582 chr10 118671343 118671343 C T rs62641722 SHTN1 Synonymous SNV S379S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 12.92 164583 chr7 12620694 12620694 G C SCIN Nonsynonymous SNV V122L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 164584 chr7 127894477 127894477 G A rs138908051 LEP Synonymous SNV Q55Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.402 164585 chr7 134882801 134882801 G A rs777254234 WDR91 Nonsynonymous SNV R332C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 164586 chr12 122413495 122413495 C T rs180698776 WDR66 Synonymous SNV I970I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 164587 chr10 123969932 123969932 C T rs769496601 TACC2 Nonsynonymous SNV P76S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 164588 chr12 124422099 124422099 T G rs781130374 CCDC92 Nonsynonymous SNV K151Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.64 164589 chr7 13971208 13971208 T C rs1028802115 ETV1 Nonsynonymous SNV M183V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.163 164590 chr19 45912113 45912113 C T rs143986145 CD3EAP Nonsynonymous SNV T298M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 164591 chr19 45912421 45912421 C A rs533843222 CD3EAP Nonsynonymous SNV P401T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.53 164592 chr6 27277212 27277212 C A rs41269257 POM121L2 Nonsynonymous SNV S913I 0.007 0.018 0.003 5 8 7 0.013 1 0 0 0 1 23.5 164593 chr10 127456099 127456099 A T rs775351738 MMP21 0 0.005 0 0 0 2 0 0 0 0 0 0 24.4 164594 chr6 170871052 170871052 - CAGCAGCAG TBP Q75_A76insQQQ 0.003 0 0 0 3 0 0 0 0 0 0 0 164595 chr12 132271057 132271057 A C rs775814672 SFSWAP Synonymous SNV R820R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.895 164596 chr12 132322812 132322812 C A rs143543400 MMP17 Nonsynonymous SNV L78M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 24.8 164597 chr10 129249682 129249682 C T rs377121875 DOCK1 Synonymous SNV I1884I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.62 164598 chr7 143088592 143088592 G A rs56307701 EPHA1 Synonymous SNV H963H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.21 164599 chr12 132398313 132398313 G T rs142630747 ULK1 Synonymous SNV A393A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 164600 chr12 132398314 132398314 G T rs754094216 ULK1 Nonsynonymous SNV G394C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 164601 chr6 150387205 150387207 TTC - ULBP3 K60del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 164602 chr12 132624252 132624252 G A rs61729151 DDX51 Synonymous SNV L634L 0.003 0.003 0.007 0 4 1 0 2 0 0 1 0 1.051 164603 chr12 132627365 132627365 G A rs61760237 DDX51 Nonsynonymous SNV T193I 0.003 0.003 0.007 0 4 1 0 2 0 0 1 0 6.334 164604 chr12 132628281 132628281 C T rs78871841 DDX51 Nonsynonymous SNV G160S 0.003 0 0.007 0 3 0 0 2 0 0 1 0 7.919 164605 chr12 132628285 132628285 G A rs191101265 DDX51 Synonymous SNV V158V 0.003 0 0.007 0 4 0 0 2 0 0 1 0 1.358 164606 chr6 34825182 34825182 C G rs182810437 UHRF1BP1 Nonsynonymous SNV T503S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.65 164607 chr12 133146731 133146731 C T rs955003954 FBRSL1 Nonsynonymous SNV P304L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 164608 chr3 9871035 9871035 G C ARPC4-TTLL3, TTLL3 Nonsynonymous SNV D647H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 164609 chr6 152722393 152722393 C T rs200030204 SYNE1 Synonymous SNV T2310T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 164610 chr12 1919503 1919503 G A CACNA2D4 Synonymous SNV L888L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.802 164611 chr12 1943617 1943617 C T rs151123520 LRTM2 Synonymous SNV P281P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.17 164612 chr6 36983554 36983554 T A FGD2 Nonsynonymous SNV M347K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 164613 chr19 49489139 49489139 C A rs141601517 GYS1 Nonsynonymous SNV G152C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 31 164614 chr7 149172576 149172576 T C rs746387593 ZNF746 0.004 0 0 0 5 0 0 0 0 0 0 0 22.8 164615 chr7 149482610 149482610 G A rs374700710 SSPO 0.007 0 0.003 0 8 0 0 1 0 0 0 0 3.17 164616 chr6 158924497 158924497 G A rs373525326 TULP4 Nonsynonymous SNV A1268T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 164617 chr7 150732985 150732985 G A rs373829198 ABCB8 Nonsynonymous SNV G227D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 164618 chr6 4069429 4069429 A T FAM217A Nonsynonymous SNV I343K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.618 164619 chr7 150932677 150932677 C T rs140913168 CHPF2 Synonymous SNV V269V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 164620 chr12 26816743 26816743 C A ITPR2 Nonsynonymous SNV A530S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 164621 chr4 113303647 113303647 T C ALPK1 Nonsynonymous SNV V72A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.1 164622 chr7 155595908 155595908 C T rs769705330 SHH Nonsynonymous SNV V359M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 164623 chr7 151791555 151791555 C T GALNT11 Synonymous SNV D81D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.993 164624 chr7 1526734 1526734 A C INTS1 Nonsynonymous SNV S884A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 164625 chr19 51172430 51172430 C G rs746014607 SHANK1 Synonymous SNV P929P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.593 164626 chr6 37180744 37180744 A G rs559106172 TMEM217 X212R 0.003 0 0 0 4 0 0 0 0 0 0 0 7.245 164627 chr12 32908139 32908139 G A rs749839651 YARS2 Nonsynonymous SNV L224F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 164628 chr12 32949101 32949101 G T rs139734328 PKP2 Nonsynonymous SNV R767S 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 34 164629 chr4 120085412 120085412 C T rs148220911 MYOZ2 Synonymous SNV T141T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 12.74 164630 chr12 3409384 3409384 T - rs10600627 LOC100128253 0 0 0.041 0 0 0 0 12 0 0 3 0 164631 chr12 43944775 43944775 G A rs770864199 ADAMTS20 Synonymous SNV F130F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.88 164632 chr12 465615 465615 C T rs182073164 KDM5A Nonsynonymous SNV G254E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 164633 chr7 100854976 100854976 C T PLOD3 Synonymous SNV L418L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.29 164634 chr10 30315460 30315460 A G rs762008363 JCAD Nonsynonymous SNV V1206A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.003 164635 chr7 23205476 23205476 C T rs776329112 KLHL7 Synonymous SNV L366L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 164636 chr7 23552675 23552675 A G rs147135605 TRA2A Synonymous SNV L20L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.5 164637 chr12 4855365 4855365 G T rs71579269 GALNT8 Nonsynonymous SNV G372W 0 0 0.01 2 0 0 0.005 3 0 0 0 0 32 164638 chr7 104749538 104749538 G C KMT2E Synonymous SNV G1206G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.017 164639 chr7 104752648 104752648 A G rs773849677 KMT2E Nonsynonymous SNV H1482R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.56 164640 chr7 2279232 2279232 C T MRM2 Nonsynonymous SNV R40K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 164641 chr4 129857893 129857893 C T rs73850039 SCLT1 Synonymous SNV A582A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.08 164642 chr19 52888074 52888074 - ATCATGAGGTCAGGAGATCGAGACCAT ZNF880 Stop gain K415_R577delinsS 0 0 0 1 0 0 0.003 0 0 0 0 0 164643 chr10 33195999 33195999 A G rs145531166 ITGB1 X802Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.92 164644 chr7 110526649 110526649 C T rs373285507 IMMP2L Synonymous SNV P136P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 164645 chr7 30704686 30704686 C G CRHR2 Nonsynonymous SNV E180D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 164646 chr7 30825571 30825571 G A rs77067592 MINDY4 Nonsynonymous SNV R209Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.8 164647 chr12 50745775 50745775 G T rs529424307 FAM186A Nonsynonymous SNV P1614T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 164648 chr7 31682871 31682871 C A rs778018395 ITPRID1 Synonymous SNV T629T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 164649 chr6 27925059 27925059 T G rs779277928 OR2B6 Nonsynonymous SNV L14R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.3 164650 chr12 52648080 52648080 G A rs79072848 KRT87P 0 0 0.041 0 0 0 0 12 0 0 1 0 6.132 164651 chr19 54561644 54561644 C G rs780069475 VSTM1 Nonsynonymous SNV A91P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 164652 chr7 128494116 128494116 G A rs761680664 FLNC Synonymous SNV T2158T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.34 164653 chr7 44805100 44805100 G A rs370276842 ZMIZ2 Nonsynonymous SNV A696T 0.004 0 0 0 5 0 0 0 0 0 0 0 23.3 164654 chr7 45108054 45108054 G A CCM2 Nonsynonymous SNV G104E 0.003 0 0 0 3 0 0 0 0 0 0 0 28.9 164655 chr7 37955815 37955815 C T rs780084181 SFRP4 Nonsynonymous SNV E109K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.8 164656 chr4 160162495 160162495 C G RAPGEF2 Nonsynonymous SNV P51R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.1 164657 chr7 4272929 4272929 G C SDK1 Nonsynonymous SNV S444T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 164658 chr10 5965619 5965619 T C FBH1 Synonymous SNV D712D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.4 164659 chr7 4876004 4876004 G A rs898027729 RADIL Synonymous SNV G256G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 164660 chr10 61958218 61958218 T C rs764543410 ANK3 Synonymous SNV A506A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.183 164661 chr10 63759975 63759975 C T rs150105654 ARID5B Synonymous SNV L210L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.4 164662 chr12 53715207 53715207 G T rs121918549 AAAS Nonsynonymous SNV Q15K 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 14.66 164663 chr19 56002229 56002229 G C SSC5D Nonsynonymous SNV G226A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.61 164664 chr19 56004993 56004993 C T SSC5D Synonymous SNV G309G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.98 164665 chr7 47698715 47698715 G - C7orf65 V116Cfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 164666 chr7 5416532 5416532 C T rs536413848 TNRC18 Nonsynonymous SNV D852N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 164667 chr7 5529702 5529702 C T rs754825346 FBXL18 Synonymous SNV P714P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.149 164668 chr7 140273789 140273789 G A rs201197656 DENND2A Nonsynonymous SNV A422V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.74 164669 chr7 141362628 141362628 C T rs779735592 DENND11 Nonsynonymous SNV R399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 164670 chr6 42036252 42036252 G A rs565147111 TAF8 Synonymous SNV P229P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.01 164671 chr7 6193541 6193541 A G USP42 Nonsynonymous SNV T786A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.48 164672 chr12 56231060 56231060 G A rs768762436 MMP19 Synonymous SNV P429P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.164 164673 chr12 56722084 56722084 C T rs190953745 PAN2 Nonsynonymous SNV V171I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.833 164674 chr10 71883836 71883836 C A rs41277978 AIFM2 Nonsynonymous SNV G2V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 28.2 164675 chr12 57009183 57009183 C T rs188870377 BAZ2A Synonymous SNV S115S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 164676 chr7 6505853 6505853 G A rs369059498 KDELR2 Synonymous SNV Y151Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6 164677 chr7 77378859 77378859 A G rs766867715 RSBN1L Synonymous SNV K274K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.993 164678 chr7 150107301 150107301 C G rs186574920 LOC728743 0.002 0 0 0 2 0 0 0 0 0 0 0 3.134 164679 chr7 150417188 150417188 T A rs61749583 GIMAP1, GIMAP1-GIMAP5 Synonymous SNV L32L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.806 164680 chr7 150439737 150439737 C T rs61751028 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV N170N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.691 164681 chr7 150439824 150439824 G A rs61751036 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV Q199Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.211 164682 chr7 73752886 73752886 G T CLIP2 Nonsynonymous SNV G77V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 164683 chr4 36296442 36296442 T G DTHD1 Nonsynonymous SNV V185G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 164684 chr7 150710874 150710874 C G rs200424809 NOS3 Synonymous SNV L1106L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.3 164685 chr6 55443800 55443800 G A rs549039167 HMGCLL1 Synonymous SNV L18L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.68 164686 chr7 151097186 151097186 C T WDR86 Nonsynonymous SNV R102K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 164687 chr7 94147556 94147556 T A CASD1 Nonsynonymous SNV I91N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 164688 chr7 99129499 99129499 C T ZKSCAN5 Nonsynonymous SNV P643L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 164689 chr12 80707293 80707293 A G rs202085918 OTOGL Nonsynonymous SNV D1154G 0 0 0.014 0 0 0 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 31 164690 chr8 100904243 100904243 G A rs149663441 COX6C Nonsynonymous SNV P3S 0.009 0 0.007 0 10 0 0 2 0 0 0 0 0.001 164691 chr10 95891995 95891995 C A rs757833114 PLCE1 Nonsynonymous SNV T116N 0.007 0.01 0 0 8 4 0 0 0 0 0 0 10.73 164692 chr8 103840813 103840813 G T rs138624614 AZIN1 Nonsynonymous SNV L361I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.45 164693 chr20 3740713 3740713 C T C20orf27 Nonsynonymous SNV G12D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.61 164694 chr12 91498016 91498016 G A rs144708376 LUM Nonsynonymous SNV R315C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 164695 chr8 110287668 110287668 A G NUDCD1 Synonymous SNV I333I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.633 164696 chr20 6077562 6077562 G A rs372599720 FERMT1 Nonsynonymous SNV A359V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.91 164697 chr7 27285576 27285576 C A rs142645206 EVX1 Nonsynonymous SNV D70E 0.004 0 0.007 4 5 0 0.01 2 0 0 0 0 29.8 164698 chr12 99106206 99106206 C T rs751620088 APAF1 Nonsynonymous SNV A930V 0 0 0.007 0 0 0 0 2 0 0 0 0 11.17 164699 chr6 90577876 90577876 G T rs150022229 CASP8AP2 Nonsynonymous SNV V1623F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 164700 chr8 118533191 118533191 C A rs139672719 MED30 Synonymous SNV R26R 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 22.6 164701 chr8 120103454 120103454 A G rs759432295 COLEC10 Nonsynonymous SNV K96R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 164702 chr8 121298164 121298164 C T rs142096423 COL14A1 Synonymous SNV F1344F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.96 164703 chr8 121437595 121437595 C T rs61753788 MRPL13 Nonsynonymous SNV G86E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 164704 chr6 97634484 97634484 G A rs1024158565 MMS22L Nonsynonymous SNV R425C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 164705 chr7 128483371 128483371 C G FLNC Nonsynonymous SNV T880R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.5 164706 chr8 125989455 125989455 A G rs138353949 ZNF572 Synonymous SNV L315L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.194 164707 chr7 131817832 131817832 G A rs376590585 PLXNA4 Synonymous SNV S1855S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.27 164708 chr13 113742919 113742919 C T rs149724257 MCF2L Synonymous SNV P899P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 164709 chr7 138281186 138281186 G A rs148292708 SVOPL Synonymous SNV I329I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.09 164710 chr13 114545493 114545493 G A rs776273182 GAS6-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 0.481 164711 chr20 25274833 25274833 G A rs149673122 PYGB Synonymous SNV L739L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.61 164712 chr4 74007980 74007980 G A ANKRD17 Synonymous SNV P623P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 164713 chr20 29960864 29960864 G T rs748567958 DEFB118 Nonsynonymous SNV R88M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 164714 chr7 142479931 142479931 T C rs371888080 PRSS3P2 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.571 164715 chr4 77660661 77660661 A G rs150617668 SHROOM3 Synonymous SNV P445P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 164716 chr8 143922559 143922559 C A GML Nonsynonymous SNV D33E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 164717 chr13 33628077 33628077 A G rs140577418 KL Synonymous SNV V331V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.831 164718 chr13 36748614 36748614 G A rs200269156 CCDC169-SOHLH2, SOHLH2 Nonsynonymous SNV R294W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 164719 chr13 37678951 37678951 C T rs201851808 CSNK1A1L Nonsynonymous SNV R148H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 164720 chr20 35690525 35690525 C A rs746022907 RBL1 Nonsynonymous SNV A349S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 164721 chr8 134251218 134251218 C T rs181121989 NDRG1 Nonsynonymous SNV R297H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 34 164722 chr4 84234417 84234417 T C rs376625431 HPSE Nonsynonymous SNV T175A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.196 164723 chr8 144895209 144895209 T C rs374693947 SCRIB Synonymous SNV A211A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 164724 chr20 44351008 44351008 T C rs1023145213 SPINT4 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 164725 chr11 113565260 113565260 G A rs116913282 TMPRSS5 Nonsynonymous SNV T198M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 8.657 164726 chr8 145059368 145059368 G C PARP10 Nonsynonymous SNV Q280E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 164727 chr4 89649711 89649711 C T rs186862605 FAM13A Synonymous SNV K661K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.8 164728 chr8 145163830 145163830 C A rs998352663 WDR97 Synonymous SNV R287R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 164729 chr7 15652068 15652068 T C rs2237493 MEOX2 Nonsynonymous SNV I287V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.439 164730 chr7 107258904 107258904 C T rs146893215 BCAP29, DUS4L-BCAP29 Nonsynonymous SNV R241W 0.003 0 0 0 3 0 0 0 0 0 0 0 6.822 164731 chr7 73011597 73011597 G T rs782532816 MLXIPL Nonsynonymous SNV S506R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.72 164732 chr8 144993572 144993572 C T rs201765507 PLEC Nonsynonymous SNV G3459S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 164733 chr7 143029922 143029922 C T rs376026619 CLCN1 Nonsynonymous SNV R453W 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Uncertain significance 24.8 164734 chr8 16963045 16963045 T C rs117334845 MICU3 Synonymous SNV N397N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.847 164735 chr7 121651352 121651352 C T rs141029507 PTPRZ1 Nonsynonymous SNV P751L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 164736 chr14 102912270 102912270 G A rs374680065 TECPR2 Nonsynonymous SNV D1021N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 164737 chr20 58442802 58442802 G A rs368374646 SYCP2 Synonymous SNV Y1363Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.553 164738 chr7 143826618 143826618 G C OR2A14 Nonsynonymous SNV R138T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.379 164739 chr14 104571754 104571754 G A rs375752823 ASPG Synonymous SNV G380G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.81 164740 chr8 21980376 21980376 G A rs777201388 HR Synonymous SNV S644S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 164741 chr8 145736018 145736018 C T rs144605322 MFSD3 Nonsynonymous SNV R290C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 164742 chr20 61391544 61391544 C T NTSR1 Synonymous SNV A394A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.037 164743 chr5 115803397 115803397 C T rs779968666 SEMA6A Synonymous SNV T592T 0 0.003 0 5 0 1 0.013 0 0 0 0 0 20.1 164744 chr7 150417512 150417512 G A rs771594865 GIMAP1 Synonymous SNV G140G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 3.948 164745 chr7 97834789 97834789 C T rs771250772 LMTK2 Synonymous SNV D1499D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.33 164746 chr7 97852407 97852407 C T rs201914325 TECPR1 Synonymous SNV P941P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.85 164747 chr7 99662177 99662177 C T rs376525199 ZSCAN21 Nonsynonymous SNV S419F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.59 164748 chr5 129520932 129520932 T G rs73788438 CHSY3 Synonymous SNV L699L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.405 164749 chr7 1538059 1538059 G A INTS1 Synonymous SNV L472L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.469 164750 chr14 20978969 20978969 C G rs61730378 RNASE10 Nonsynonymous SNV D113E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.96 164751 chr20 62729283 62729283 C T rs767698847 OPRL1 Nonsynonymous SNV A116V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 164752 chr14 21025107 21025107 T G rs76822219 RNASE9 Nonsynonymous SNV K41T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 164753 chr7 138822609 138822609 G T TTC26 Nonsynonymous SNV G53V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 29.6 164754 chr5 131877824 131877824 G A rs200665399 IL5 Synonymous SNV C63C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.409 164755 chr5 131951811 131951811 G A rs35800931 RAD50 Synonymous SNV L1051L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 12.9 164756 chr8 103250959 103250959 C G rs200373694 RRM2B Nonsynonymous SNV R31P 0.009 0.005 0.01 2 11 2 0.005 3 0 0 0 0 Benign 7.369 164757 chr8 21927808 21927808 C T rs766272009 DMTN Synonymous SNV T149T 0.003 0 0 0 4 0 0 0 0 0 0 0 13.73 164758 chr14 21238588 21238588 T C EDDM3B Synonymous SNV Y93Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 164759 chr5 132149593 132149593 G A rs114865630 SOWAHA Nonsynonymous SNV G94S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 1 0 1.709 164760 chr8 10387207 10387207 G C rs75926785 PRSS55 Synonymous SNV L115L 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 0.093 164761 chr5 132150804 132150804 G A rs7719416 SOWAHA Synonymous SNV K497K 0.003 0.003 0.007 1 3 1 0.003 2 0 0 1 0 10.04 164762 chr5 132159393 132159393 G A rs33935150 SHROOM1 Synonymous SNV N625N 0.003 0.003 0.01 1 4 1 0.003 3 0 0 1 0 3.614 164763 chr5 132535225 132535225 G A rs61740558 FSTL4 Synonymous SNV D697D 0.003 0.003 0.007 1 3 1 0.003 2 0 0 1 0 Benign 2.234 164764 chr7 42951601 42951601 C T rs371376450 C7orf25 Synonymous SNV V22V 0.003 0 0 0 4 0 0 0 0 0 0 0 13.63 164765 chr8 10467494 10467494 C T RP1L1 Nonsynonymous SNV V1372M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.81 164766 chr7 44099167 44099167 C T rs147270019 DBNL Synonymous SNV P216P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 10.73 164767 chr7 44104981 44104981 T G rs151308911 PGAM2 Nonsynonymous SNV M50L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 14.38 164768 chr14 23102713 23102713 G A rs114013043 OR6J1 Nonsynonymous SNV S335F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 164769 chr7 143044029 143044029 T C rs368445765 CLCN1 Nonsynonymous SNV M797T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 164770 chr21 33687279 33687281 CCT - URB1 E2255del 0 0 0 1 0 0 0.003 0 0 0 0 0 164771 chr21 34143830 34143830 G A PAXBP1 Synonymous SNV A50A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.36 164772 chr8 38250402 38250402 A G rs372339137 LETM2 Synonymous SNV L83L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.761 164773 chr7 45151262 45151262 C T rs148344719 TBRG4, TBRG4 Nonsynonymous SNV V3I 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 15.42 164774 chr8 55542115 55542115 G T rs139088785 RP1 Nonsynonymous SNV L1891F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 164775 chr8 124790269 124790269 A G rs200076157 FAM91A1 Synonymous SNV L124L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.766 164776 chr8 30982426 30982426 T G rs11574323 WRN Nonsynonymous SNV I912S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 164777 chr8 6299641 6299641 G A rs2922828 MCPH1 Nonsynonymous SNV A164T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.1 164778 chr8 6302962 6302962 C T rs35551093 MCPH1 Synonymous SNV S525S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.18 164779 chr7 150767071 150767071 C T rs370012124 SLC4A2 Synonymous SNV P386P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.79 164780 chr7 1523712 1523712 G A rs765260582 INTS1 Nonsynonymous SNV A1119V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 164781 chr7 154738098 154738098 G A PAXIP1 Synonymous SNV L1057L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.704 164782 chr8 70515476 70515476 A G rs118056333 SULF1 Nonsynonymous SNV I371V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 26.5 164783 chr7 5410697 5410697 C G rs199711412 TNRC18 Nonsynonymous SNV E1176D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 11.9 164784 chr7 5428318 5428318 C A TNRC18 Nonsynonymous SNV E379D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 164785 chr7 38471812 38471812 T A rs771732083 AMPH Nonsynonymous SNV T379S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.7 164786 chr8 43197398 43197398 G - rs557897303 POTEA D384Ifs*43 0.002 0 0 0 2 0 0 0 0 0 0 0 164787 chr11 2016546 2016546 G A rs769747382 HOTS Synonymous SNV E40E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 164788 chr8 87439965 87439965 C G rs143350413 WWP1 Synonymous SNV V417V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.67 164789 chr7 20201444 20201444 A C rs148891378 MACC1 Nonsynonymous SNV I14M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.895 164790 chr7 20438529 20438529 G A rs758789562 ITGB8 Nonsynonymous SNV G398D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.517 164791 chr8 8865538 8865538 C G ERI1 Nonsynonymous SNV S56C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 164792 chr8 143808838 143808838 T C THEM6 Nonsynonymous SNV V25A 0.003 0 0 4 4 0 0.01 0 0 0 0 0 19.69 164793 chr8 144358777 144358777 G A rs147593320 GLI4 Nonsynonymous SNV E312K 0.004 0 0 4 5 0 0.01 0 0 0 0 0 23.9 164794 chr7 22985438 22985438 C T rs574238934 FAM126A Nonsynonymous SNV A446T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.3 164795 chr8 95800266 95800266 A G rs143942673 DPY19L4 Nonsynonymous SNV I665V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.053 164796 chr14 59830402 59830402 C G rs200150249 DAAM1 Nonsynonymous SNV P910A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.56 164797 chr8 99170217 99170217 G A rs754206205 POP1 Synonymous SNV P931P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.511 164798 chr7 77539659 77539659 A G rs201083715 PHTF2 Nonsynonymous SNV T199A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.555 164799 chr7 82538236 82538236 T C PCLO Nonsynonymous SNV E4465G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 164800 chr5 158588277 158588277 A G rs753991279 RNF145 Synonymous SNV Y571Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.946 164801 chr22 18387533 18387533 C G rs750448038 MICAL3 Nonsynonymous SNV V113L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 164802 chr14 64723951 64723951 G A ESR2 Synonymous SNV L362L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 164803 chr8 98078283 98078283 C A rs535633989 CPQ Nonsynonymous SNV T367N 0.003 0 0 0 4 0 0 0 0 0 0 0 21.7 164804 chr7 31010815 31010815 A G rs750156453 GHRHR Nonsynonymous SNV I150V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.23 164805 chr11 419635 419635 C T rs146898896 ANO9 Synonymous SNV V483V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 164806 chr14 69521903 69521903 T C DCAF5 Synonymous SNV T499T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.455 164807 chr9 113163241 113163241 C T rs185633813 SVEP1 Nonsynonymous SNV V3239I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 164808 chr14 71492849 71492849 A G rs376253730 PCNX1 Nonsynonymous SNV I956V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.91 164809 chr9 113169013 113169013 G A rs191479924 SVEP1 Nonsynonymous SNV A2956V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 164810 chr14 74085981 74085981 G T rs201661122 ACOT6 Nonsynonymous SNV G21V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 164811 chr7 92140266 92140266 T C rs144942544 PEX1 Nonsynonymous SNV T527A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.268 164812 chr11 46908042 46908042 C T LRP4 Nonsynonymous SNV R753H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 164813 chr9 104340121 104340121 T C rs200847939 GRIN3A Synonymous SNV L979L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.768 164814 chr14 74754936 74754936 G A rs57773157 ABCD4 Nonsynonymous SNV A267V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.15 164815 chr14 74757019 74757019 C T rs11845976 ABCD4 Synonymous SNV L171L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.22 164816 chr14 74759529 74759529 G A rs1052000 ABCD4 Synonymous SNV Y23Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.64 164817 chr14 74763064 74763064 C T rs34992370 ABCD4 Nonsynonymous SNV V13I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.151 164818 chr14 74763086 74763086 G C rs36031534 ABCD4 Stop gain S28X 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.585 164819 chr14 74764675 74764675 G A rs61744947 ABCD4 Nonsynonymous SNV A41V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23 164820 chr14 74766360 74766360 T C rs58272575 ABCD4 Nonsynonymous SNV Q59R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.671 164821 chr7 4006957 4006957 T C SDK1 Synonymous SNV A479A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.094 164822 chr14 75513485 75513485 A G rs751843650 MLH3 Synonymous SNV N958N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.17 164823 chr9 117120332 117120332 C T rs41312192 AKNA Nonsynonymous SNV V751M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.867 164824 chr14 77928551 77928551 A G rs748709479 AHSA1 Nonsynonymous SNV N107S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 164825 chr22 24829521 24829521 C T rs4530 ADORA2A Nonsynonymous SNV A50V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.21 164826 chr14 79454469 79454469 A G rs149534233 NRXN3 Nonsynonymous SNV N710D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 164827 chr22 25294514 25294514 C T rs141665346 SGSM1 Synonymous SNV G805G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 164828 chr22 25315849 25315849 G A rs200716605 SGSM1 Nonsynonymous SNV V967I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.05 164829 chr9 113213573 113213573 A G rs190415662 SVEP1 Synonymous SNV F1299F 0.007 0 0.003 2 8 0 0.005 1 0 0 0 0 0.022 164830 chr9 114454090 114454090 C T rs756319127 SHOC1 Synonymous SNV Q1286Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.692 164831 chr7 47853082 47853082 G A rs777178448 C7orf69 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.001 164832 chr14 90767623 90767623 A G rs201684478 NRDE2 Nonsynonymous SNV F502S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.9 164833 chr9 123550141 123550141 T C rs13295390 FBXW2 Synonymous SNV Q132Q 0.004 0.005 0.014 5 5 2 0.013 4 0 0 0 0 0.056 164834 chr7 87175212 87175212 C T rs150277104 ABCB1 Synonymous SNV E618E 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 13.68 164835 chr22 28194684 28194684 G A MN1 Synonymous SNV G616G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.127 164836 chr5 180030322 180030322 C T rs79620092 FLT4 Nonsynonymous SNV R1321Q 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 Likely benign 13.68 164837 chr5 180052982 180052982 C T rs142130840 FLT4 Synonymous SNV S436S 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Likely benign 17.79 164838 chr7 4823058 4823058 G A rs752115827 AP5Z1 Nonsynonymous SNV V4I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.66 164839 chr9 116136018 116136018 A G rs745857249 HDHD3 Nonsynonymous SNV M206T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 164840 chr9 116279886 116279886 G A rs139327063 RGS3 Synonymous SNV G299G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.27 164841 chr22 30767644 30767644 A T rs41296241 CCDC157 Nonsynonymous SNV S351C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.233 164842 chr14 94467595 94467595 G A rs139512987 CCDC197 Nonsynonymous SNV A98T 0 0 0.014 0 0 0 0 4 0 0 0 0 0.41 164843 chr5 180684566 180684566 A C rs577962819 CTC-338M12.4 0 0 0 1 0 0 0.003 0 0 0 0 0 5.91 164844 chr9 117139367 117139367 G A rs377039831 AKNA Synonymous SNV S121S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.671 164845 chr5 32126474 32126474 G A rs61748192 GOLPH3 Synonymous SNV D247D 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 0.058 164846 chr22 32108919 32108919 T G PRR14L Synonymous SNV R1636R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.147 164847 chr22 32108920 32108920 T G PRR14L Synonymous SNV L1635L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.162 164848 chr22 32109586 32109586 C T rs892164306 PRR14L Synonymous SNV T1413T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.544 164849 chr5 33459871 33459871 C A rs111861274 TARS1 Synonymous SNV T385T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.68 164850 chr9 127566478 127566478 C T rs775298341 OLFML2A Nonsynonymous SNV P128L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 164851 chr15 101094309 101094309 G A rs969080052 PRKXP1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.254 164852 chr7 55910703 55910703 A G SEPTIN14 Nonsynonymous SNV F164L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 164853 chr9 129870875 129870875 G T rs758697631 ANGPTL2 Synonymous SNV R46R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.596 164854 chr9 125289522 125289522 C G rs13287449 OR1N1 Synonymous SNV A17A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.384 164855 chr5 37331795 37331795 A G rs75255795 NUP155 Synonymous SNV L541L 0.005 0 0 6 6 0 0.015 0 0 0 0 0 Benign 11.07 164856 chr8 128750607 128750607 G A rs61752959 MYC Synonymous SNV Q47Q 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 5.347 164857 chr9 130656964 130656964 G A rs752866527 ST6GALNAC6 Nonsynonymous SNV R8W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 164858 chr9 131219693 131219693 C T rs754998498 ODF2 Synonymous SNV A3A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 164859 chr15 33359578 33359578 T C rs751620973 FMN1 Nonsynonymous SNV S170G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.715 164860 chr7 7557463 7557463 G A rs189957039 COL28A1 Synonymous SNV N273N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.937 164861 chr8 59409203 59409203 T C CYP7A1 Nonsynonymous SNV T290A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 164862 chr15 38632078 38632078 G A rs202092705 SPRED1 Nonsynonymous SNV M188I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.94 164863 chr15 38643642 38643642 G T SPRED1 Nonsynonymous SNV C371F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 164864 chr9 133914318 133914318 C T rs150931475 LAMC3 Synonymous SNV H348H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.29 164865 chr8 142176377 142176377 C T rs373884314 DENND3 Nonsynonymous SNV R548C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 164866 chr8 143381841 143381841 C G rs776057108 TSNARE1 Nonsynonymous SNV R432S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.16 164867 chr8 143381844 143381844 C T rs745524856 TSNARE1 Synonymous SNV V431V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.99 164868 chr7 82545367 82545367 C T rs770874257 PCLO Nonsynonymous SNV E3979K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 164869 chr5 55407449 55407449 A G rs77017041 ANKRD55 Nonsynonymous SNV S376P 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 Likely benign 23.2 164870 chr8 91031401 91031401 G C DECR1 0.008 0 0 1 9 0 0.003 0 0 0 0 0 25.3 164871 chr9 138837833 138837833 G T rs140571151 UBAC1 Nonsynonymous SNV D185E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 164872 chr9 139103126 139103126 C G QSOX2 Synonymous SNV V511V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.874 164873 chr7 99506406 99506406 G A TRIM4 Synonymous SNV I173I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.678 164874 chr9 135933206 135933206 T C rs111893665 GTF3C5 Nonsynonymous SNV F293L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.176 164875 chr9 139265889 139265889 C T rs376793464 CARD9 Nonsynonymous SNV R70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 164876 chr15 45405201 45405201 G T rs779289206 DUOX2 Nonsynonymous SNV H48Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 164877 chr8 132997231 132997231 T C rs752332540 EFR3A Nonsynonymous SNV M562T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 164878 chr15 49575799 49575799 G A rs369854223 GALK2 Nonsynonymous SNV D203N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.46 164879 chr9 136508684 136508691 GCTGGCCG - DBH A300Gfs*274 0.002 0 0 0 2 0 0 0 0 0 0 0 164880 chr11 56237225 56237225 T C rs764979699 OR5M3 Nonsynonymous SNV Y250C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 164881 chr8 101937162 101937162 C T YWHAZ Nonsynonymous SNV A134T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.33 164882 chr9 139566476 139566476 G C EGFL7 Nonsynonymous SNV Q245H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 164883 chr9 139566483 139566483 G A rs755214072 EGFL7 Nonsynonymous SNV G248S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 164884 chr15 51285565 51285565 A G AP4E1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 164885 chr9 139571956 139571956 C T rs746723029 AGPAT2 Nonsynonymous SNV E79K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 164886 chr8 141297792 141297792 C T rs756852411 TRAPPC9 Synonymous SNV A623A 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 14.71 164887 chr8 141559232 141559232 G A rs150338909 AGO2 Synonymous SNV P523P 0.003 0 0 0 4 0 0 0 0 0 0 0 6.904 164888 chr8 10466893 10466893 G A rs770732016 RP1L1 Nonsynonymous SNV T1572I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.832 164889 chr9 110084386 110084386 A G rs4987014 RAD23B Synonymous SNV T247T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.198 164890 chr9 139848341 139848341 G A rs45578835 LCN12 Nonsynonymous SNV D125N 0.012 0.013 0.01 3 14 5 0.008 3 0 0 0 0 0.111 164891 chrX 18213560 18213560 C T BEND2 Nonsynonymous SNV E346K 0 0 0 4 0 0 0.01 0 0 0 0 1 17.53 164892 chr9 140357251 140357251 C A rs954018020 PNPLA7 Synonymous SNV V1101V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 164893 chr9 139973461 139973463 ACC - UAP1L1 H236del 0.001 0 0 0 1 0 0 0 0 0 0 0 164894 chr15 64015461 64015461 T C rs780900182 HERC1 Nonsynonymous SNV Y1221C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 164895 chr9 140389573 140389573 C T rs890419297 PNPLA7 Nonsynonymous SNV R655Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 164896 chr8 123964910 123964910 C A rs370753355 ZHX2 Nonsynonymous SNV T387N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 164897 chr8 144941465 144941465 G A rs143133632 EPPK1 Nonsynonymous SNV T1986M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.293 164898 chr9 18474290 18474290 C T ADAMTSL1 Synonymous SNV L20L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.56 164899 chr15 72648894 72648894 C A HEXA Nonsynonymous SNV Q106H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 164900 chr9 2060957 2060957 G C SMARCA2 Nonsynonymous SNV E555Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 164901 chr8 131138274 131138274 A G rs200907447 ASAP1 Synonymous SNV H481H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.558 164902 chr15 74711182 74711182 A T rs148553967 SEMA7A Nonsynonymous SNV L97H 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 2.969 164903 chr11 60269482 60269482 G A MS4A12 Synonymous SNV V101V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.326 164904 chr8 27462542 27462542 A G CLU Nonsynonymous SNV M243T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 164905 chr9 34894476 34894476 T G FAM205C Nonsynonymous SNV E71D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.561 164906 chr9 35794093 35794093 C T rs915823109 NPR2 Nonsynonymous SNV A289V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 164907 chr9 33944445 33944445 A G rs201283769 UBAP2 Nonsynonymous SNV I435T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.503 164908 chr15 78398175 78398175 C T rs141932061 CIB2 Nonsynonymous SNV D101N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 164909 chr9 35090130 35090130 G A rs149391665 PIGO Nonsynonymous SNV A1001V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 10.77 164910 chr15 78838067 78838067 C T rs377378619 PSMA4 Synonymous SNV Y85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 164911 chr9 37776325 37776325 G A rs773184391 TRMT10B Nonsynonymous SNV R178H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 164912 chr9 37860074 37860074 G A DCAF10 Nonsynonymous SNV V226I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 164913 chr6 43336992 43336992 G C rs535382812 ZNF318 Nonsynonymous SNV R38G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.7 164914 chr9 6421105 6421105 G A rs140727862 UHRF2 Nonsynonymous SNV R116H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 164915 chr9 130476454 130476454 C T rs548167098 PTRH1 Nonsynonymous SNV C175Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.24 164916 chrY 16845407 16845407 - T rs776557550 NLGN4Y *257delinsLSSDA 0 0 0 2 0 0 0.005 0 0 0 0 1 164917 chr6 130454988 130454988 G T L3MBTL3 Nonsynonymous SNV V688L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 164918 chr9 132374650 132374650 T A rs754962322 C9orf50 Synonymous SNV A424A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.308 164919 chr1 1564560 1564560 G T rs765388187 MIB2 Synonymous SNV A800A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.94 164920 chr9 86571254 86571254 C G C9orf64 Nonsynonymous SNV E54D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 164921 chr8 69434168 69434168 A G rs553904484 C8orf34 Synonymous SNV Q257Q 0.002 0 0 0 2 0 0 0 0 0 0 0 7.792 164922 chr9 916903 916903 G A rs146258506 DMRT1 Synonymous SNV A163A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.035 164923 chr15 90634872 90634872 G A rs148974231 IDH2 Synonymous SNV A40A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.27 164924 chr11 6566823 6566823 G T rs200223989 DNHD1 Nonsynonymous SNV A1552S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.016 164925 chr6 7230045 7230045 C G rs374202026 RREB1 Synonymous SNV P571P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.014 164926 chr8 92147930 92147930 A T rs201883614 LRRC69 Nonsynonymous SNV D205V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27 164927 chr9 136535856 136535856 G A rs141409671 SARDH Nonsynonymous SNV A782V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 18.74 164928 chr11 66802142 66802142 G A rs762680981 SYT12 Nonsynonymous SNV V21M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 164929 chrX 118109166 118109170 GGGGG - rs775265450 LONRF3 G142Rfs*14 0.004 0 0 0 5 0 0 0 1 0 0 0 164930 chrX 118109172 118109181 CGCCGCGGCT - rs762815896 LONRF3 A144Rfs*56 0.004 0 0 0 5 0 0 0 1 0 0 0 164931 chr16 12662443 12662443 C T SNX29 Nonsynonymous SNV P800L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 164932 chr1 8415571 8415571 G A RERE Synonymous SNV A971A 0 0 0 3 0 0 0.008 0 0 0 0 0 2.188 164933 chr6 159185546 159185546 C T rs201342455 SYTL3 Synonymous SNV G375G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 164934 chr11 6789304 6789304 C T rs140650454 OR2AG2 Synonymous SNV K295K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.56 164935 chrX 12906721 12906721 G A rs147244662 TLR7 Nonsynonymous SNV A1032T 0.003 0 0 2 4 0 0.005 0 1 0 0 1 23.1 164936 chr11 68673588 68673588 T A rs372000714 IGHMBP2 Stop gain C46X 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 35 164937 chr8 21978591 21978591 G A rs140534514 HR Nonsynonymous SNV P785L 0.006 0 0 0 7 0 0 0 0 0 0 0 Uncertain significance 32 164938 chr11 68837950 68837950 C T rs140080013 TPCN2 Synonymous SNV V294V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.72 164939 chr16 15737152 15737152 G C MIR484 0 0 0.007 0 0 0 0 2 0 0 0 0 14.81 164940 chrX 139866460 139866460 G A rs753275434 CDR1 Synonymous SNV D24D 0.002 0 0 0 2 0 0 0 1 0 0 0 6.477 164941 chr1 11589727 11589727 C T rs374174372 DISP3 Synonymous SNV F971F 0 0 0 3 0 0 0.008 0 0 0 0 0 14.58 164942 chr6 1612142 1612147 GCGGCG - rs771540524 FOXC1 A494_A495del 0.006 0.003 0 6 7 1 0.015 0 0 0 0 0 164943 chr6 161470623 161470623 C T rs144846655 MAP3K4 Nonsynonymous SNV P440L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.47 164944 chrX 153296439 153296439 G A rs61750251 MECP2 Synonymous SNV A292A 0.005 0 0 0 6 0 0 0 2 0 0 0 Conflicting interpretations of pathogenicity 2.149 164945 chrX 153296671 153296671 G A rs61749720 MECP2 Nonsynonymous SNV T215M 0.005 0 0 0 6 0 0 0 2 0 0 0 Benign/Likely benign 22.1 164946 chrX 154020510 154020510 C T rs147273733 MPP1 Synonymous SNV G51G 0.004 0 0 0 5 0 0 0 2 0 0 0 Likely benign 9.068 164947 chr9 112963721 112963721 A G rs759883794 C9orf152 Nonsynonymous SNV V76A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 164948 chr8 26623641 26623641 G A rs59765666 ADRA1A Nonsynonymous SNV T432I 0.005 0 0 0 6 0 0 0 0 0 0 0 1.99 164949 chr16 22176974 22176974 C A SDR42E2 Nonsynonymous SNV P24H 0 0 0.003 0 0 0 0 1 0 0 0 0 17 164950 chr9 18905795 18905795 A G rs149316235 ADAMTSL1 Nonsynonymous SNV I1623V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.99 164951 chrX 23723115 23723118 AAGA - ACOT9 S298Hfs*58 0.001 0 0 0 1 0 0 0 0 0 0 0 164952 chrX 2878446 2878447 TC - rs773866851 ARSL D8Qfs*68 0.003 0 0 2 4 0 0.005 0 0 0 0 1 164953 chr16 24942178 24942178 T C rs771954263 ARHGAP17 Synonymous SNV Q736Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 164954 chr16 25704059 25704059 C A HS3ST4 Nonsynonymous SNV S107R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 164955 chr16 2580516 2580516 G A AMDHD2, CEMP1 Nonsynonymous SNV P187S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 164956 chr6 18121848 18121848 C T rs148553723 NHLRC1 Synonymous SNV Q330Q 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Likely benign 11.03 164957 chr11 78369307 78369307 C T rs769658072 TENM4 Synonymous SNV A2702A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.837 164958 chr9 117110029 117110029 C T rs747494693 AKNA Nonsynonymous SNV A1006T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 7.856 164959 chr8 40554842 40554842 C T rs773491757 ZMAT4 Nonsynonymous SNV D91N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.1 164960 chrX 54359891 54359891 G A rs782604526 WNK3 Synonymous SNV A72A 0.002 0 0 0 2 0 0 0 1 0 0 0 2.804 164961 chr1 22155960 22155960 C G rs762861100 HSPG2 Nonsynonymous SNV G3971R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.1 164962 chrX 55650803 55650803 A G FOXR2 Nonsynonymous SNV N220S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.002 164963 chr9 119461243 119461243 C T rs3747835 TRIM32 Nonsynonymous SNV R408C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 164964 chr9 120176941 120176941 A G rs548654760 ASTN2 Synonymous SNV A92A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.485 164965 chr9 123719620 123719620 T C rs761788277 C5 Nonsynonymous SNV T1575A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 164966 chr8 618752 618752 G A rs544295245 ERICH1 Synonymous SNV A368A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.76 164967 chrX 7194035 7194035 G A STS Nonsynonymous SNV V284M 0.002 0 0 0 2 0 0 0 1 0 0 0 24.5 164968 chrX 69419713 69419713 G A rs140805163 DGAT2L6 Nonsynonymous SNV R83Q 0.003 0 0 0 3 0 0 0 0 0 0 0 15.08 164969 chr16 31580447 31580447 C T rs190551738 YBX3P1 0 0 0.048 0 0 0 0 14 0 0 0 0 8.199 164970 chrX 69670146 69670146 G T rs138759292 DLG3 Synonymous SNV R277R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.285 164971 chrX 71425372 71425372 C T ERCC6L Nonsynonymous SNV S1082N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.708 164972 chrX 99922321 99922321 T A rs147566410 SRPX2 Nonsynonymous SNV F338I 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 32 164973 chrY 14949919 14949919 A G USP9Y Nonsynonymous SNV I1760V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.043 164974 chr8 77754971 77754971 G A rs746436593 ZFHX4 Nonsynonymous SNV D1159N 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 164975 chr10 102255219 102255219 G A rs776773114 SEC31B Nonsynonymous SNV P799S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.693 164976 chr9 130504087 130504087 C T rs763864739 SH2D3C Nonsynonymous SNV G532S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 164977 chr16 48174765 48174765 C A rs141807269 ABCC12 Stop gain G164X 0.003 0.01 0.01 6 3 4 0.015 3 0 0 0 0 Benign 23.4 164978 chr12 100453000 100453000 A C rs144268237 UHRF1BP1L Synonymous SNV L685L 0 0.003 0.01 0 0 1 0 3 0 0 1 0 0.014 164979 chr16 4827942 4827942 G A rs577916873 SEPTIN12 Synonymous SNV R265R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.94 164980 chr12 101017839 101017839 C T rs148236676 GAS2L3 Nonsynonymous SNV P419L 0.005 0.013 0.003 1 6 5 0.003 1 0 0 0 0 Benign 10.42 164981 chr16 48295392 48295392 G A rs746644349 LONP2 Nonsynonymous SNV E217K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 164982 chr16 50828136 50828136 C T rs528100675 CYLD Nonsynonymous SNV P825L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 164983 chr10 108432663 108432663 G T rs749767675 SORCS1 Nonsynonymous SNV A674D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.1 164984 chr1 32222981 32222984 ACTT - rs757764225 ADGRB2 0.003 0.008 0.007 2 4 3 0.005 2 0 0 0 0 164985 chr9 131939131 131939131 T C rs754537722 IER5L Nonsynonymous SNV I401V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 164986 chr6 36298403 36298403 G A rs146454415 BNIP5 Nonsynonymous SNV P22L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.487 164987 chr1 33363806 33363806 C T rs907973869 TMEM54 Nonsynonymous SNV R44H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 164988 chr1 33742040 33742040 C T rs753275203 ZNF362 Nonsynonymous SNV S65L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.8 164989 chr12 105540833 105540833 G A rs746822124 WASHC4 Nonsynonymous SNV R809Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.8 164990 chr12 108133392 108133392 G A rs12371074 LOC101929162 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.341 164991 chr12 109286790 109286790 G A rs775565169 DAO Nonsynonymous SNV R162Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 164992 chr12 109728026 109728026 G A rs765806216 FOXN4 Nonsynonymous SNV A51V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 164993 chrX 10174493 10174493 C T rs199958606 CLCN4 Synonymous SNV S123S 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 15.48 164994 chr9 111881746 111881746 G A rs75011354 TMEM245 Synonymous SNV L150L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.123 164995 chrX 103497474 103497474 T C rs201519494 ESX1 Nonsynonymous SNV D181G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 164996 chr6 42933787 42933787 C T rs758572546 PEX6 Nonsynonymous SNV R786Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 35 164997 chr9 136522304 136522304 G A DBH Nonsynonymous SNV A559T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 164998 chr16 70509601 70509601 G A rs17884050 FCSK Nonsynonymous SNV A858T 0.007 0.005 0.01 1 8 2 0.003 3 0 0 1 0 22.5 164999 chr1 8390435 8390435 G A rs139957298 SLC45A1 Synonymous SNV R294R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 1.713 165000 chr9 139111010 139111010 G A rs372271403 QSOX2 Synonymous SNV V274V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.297 165001 chr6 46977034 46977034 T C rs927321895 ADGRF1 Nonsynonymous SNV I713V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.6 165002 chr9 139277881 139277881 G A rs147824792 SNAPC4 Synonymous SNV S580S 0.005 0.013 0 3 6 5 0.008 0 0 0 0 0 2.628 165003 chr6 47682323 47682323 G A rs889118088 ADGRF4 Nonsynonymous SNV V448M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.111 165004 chr9 117826124 117826124 C T rs139931208 TNC Synonymous SNV G1237G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 14.52 165005 chr6 49665591 49665591 A G rs368436207 CRISP2 Nonsynonymous SNV V166A 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 29.3 165006 chr12 120576547 120576547 G A rs375384887 GCN1 Synonymous SNV I2036I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 165007 chr6 51768399 51768399 A T rs200179145 PKHD1 Nonsynonymous SNV I2331K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Pathogenic/Likely pathogenic 25.1 165008 chr9 124103631 124103631 A G rs140296020 STOM Nonsynonymous SNV M74T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.65 165009 chr12 121154510 121154510 G A rs187945744 UNC119B Synonymous SNV P146P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 165010 chr10 129914032 129914032 G A rs751915897 MKI67 Nonsynonymous SNV R214C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.01 165011 chr9 124522550 124522550 C T rs41273442 DAB2IP Synonymous SNV Y210Y 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 8.953 165012 chr1 15905421 15905421 C T rs567003177 AGMAT Nonsynonymous SNV R218H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 165013 chrX 153219947 153219947 G A rs375212345 HCFC1 Synonymous SNV T1301T 0.005 0.003 0 2 6 1 0.005 0 1 0 0 1 Likely benign 5.462 165014 chrX 153524243 153524243 C T TKTL1 Nonsynonymous SNV P11S 0.002 0 0 2 2 0 0.005 0 0 0 0 1 0.57 165015 chrX 153587375 153587375 T C rs200130356 FLNA Nonsynonymous SNV Q1484R 0.002 0 0 4 2 0 0.01 0 0 0 0 1 Conflicting interpretations of pathogenicity 16.17 165016 chrX 15609907 15609907 T A rs748076875 ACE2 Nonsynonymous SNV E171V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 165017 chr6 74079439 74079439 C T rs368224203 OOEP Nonsynonymous SNV R26K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.307 165018 chr9 19050323 19050323 G A rs41268997 RRAGA Synonymous SNV Q222Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.958 165019 chrX 2951253 2951253 G A rs144189290 ARSH Nonsynonymous SNV V506M 0.002 0 0.007 2 2 0 0.005 2 0 0 1 1 23.4 165020 chr16 88793577 88793577 C T rs954133038 PIEZO1 Nonsynonymous SNV A1109T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 165021 chr1 20987696 20987696 G A rs143421115 DDOST Synonymous SNV L67L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.74 165022 chrX 38163957 38163957 T C rs62640587 RPGR Nonsynonymous SNV I289V 0.007 0.013 0 3 8 5 0.008 0 1 2 0 0 Benign/Likely benign 0.001 165023 chr6 84856409 84856409 T C rs9449804 CEP162 Synonymous SNV K1213K 0.003 0.005 0.01 3 3 2 0.008 3 0 0 0 0 0.403 165024 chr6 84884619 84884619 T C rs140360717 CEP162 Nonsynonymous SNV R542G 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 165025 chr1 22183650 22183650 G A rs140134749 HSPG2 Synonymous SNV N1812N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.63 165026 chr16 89696890 89696890 G T rs894869933 DPEP1 Nonsynonymous SNV E24D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.584 165027 chr16 89775765 89775765 G A rs781596061 VPS9D1 Synonymous SNV G489G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 165028 chr16 89985913 89985913 T C rs34474212 MC1R Nonsynonymous SNV S83P 0 0.01 0.007 0 0 4 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 165029 chr9 24545054 24545054 A G rs200973429 IZUMO3 Nonsynonymous SNV F103L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 22.4 165030 chr1 68960205 68960205 T A DEPDC1 Nonsynonymous SNV Q74H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.06 165031 chr17 10216621 10216621 G A rs201932409 MYH13 Synonymous SNV D1345D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 165032 chr6 90572199 90572199 A G rs116832209 CASP8AP2 Synonymous SNV R257R 0 0 0 2 0 0 0.005 0 0 0 0 0 5.065 165033 chrX 53579372 53579372 G T HUWE1 Synonymous SNV S2927S 0.001 0 0.014 0 1 0 0 4 0 0 2 0 8.993 165034 chr6 90660566 90660566 C G rs374299780 BACH2 Nonsynonymous SNV C420S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.09 165035 chr6 91226286 91226286 G A rs34631230 MAP3K7 Synonymous SNV Y558Y 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 1.223 165036 chrX 54786347 54786347 A G rs377459317 ITIH6 Nonsynonymous SNV M306T 0.005 0 0 0 6 0 0 0 0 0 0 0 21.5 165037 chr9 34106451 34106451 G A rs147332697 DCAF12 Synonymous SNV S194S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.89 165038 chrX 65819933 65819933 T C rs777875714 EDA2R Synonymous SNV K174K 0.001 0 0.014 0 1 0 0 4 0 0 2 0 0.141 165039 chrX 67432031 67432031 C G OPHN1 Synonymous SNV L207L 0.004 0 0 0 5 0 0 0 0 0 0 0 10.72 165040 chr1 24663311 24663311 A T rs144957254 GRHL3 Synonymous SNV P156P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 1.29 165041 chr10 3189924 3189924 C T rs554941574 PITRM1 Nonsynonymous SNV C594Y 0.007 0 0 1 8 0 0.003 0 0 0 0 0 15.89 165042 chr9 35751681 35751681 C T rs149109089 RGP1 Nonsynonymous SNV S231F 0.003 0 0 0 4 0 0 0 0 0 0 0 27.2 165043 chrX 77528819 77528819 A C CYSLTR1 Nonsynonymous SNV F142C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.35 165044 chr1 27320407 27320407 C G rs773839746 TRNP1 Nonsynonymous SNV P44A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 165045 chr9 4118488 4118488 G - GLIS3 Stop gain Y175* 0.003 0 0 0 4 0 0 0 0 0 0 0 165046 chr9 4118490 4118490 A T GLIS3 Nonsynonymous SNV Y175N 0.003 0 0 0 4 0 0 0 0 0 0 0 25.1 165047 chr12 31545627 31545627 G A DENND5B Nonsynonymous SNV P1087L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.62 165048 chr17 17929683 17929683 C A ATPAF2 Nonsynonymous SNV K124N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 165049 chr12 3747472 3747472 C T rs117492949 CRACR2A Nonsynonymous SNV V474I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 21.5 165050 chr9 91993887 91993887 C A SEMA4D Nonsynonymous SNV G774V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 165051 chr10 50574234 50574234 G A rs538583055 DRGX Nonsynonymous SNV P240L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.49 165052 chr10 104572647 104572647 C T rs550297902 WBP1L Synonymous SNV P217P 0.003 0 0 0 3 0 0 0 0 0 0 0 2.971 165053 chr12 4722773 4722773 G A rs760827391 DYRK4 Nonsynonymous SNV G187R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.007 165054 chr12 48105484 48105484 G C ENDOU Nonsynonymous SNV F286L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 165055 chr9 139908341 139908341 G A ABCA2 Synonymous SNV L1464L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.907 165056 chr10 5442851 5442851 T C rs182163936 TUBAL3 Nonsynonymous SNV H28R 0.008 0 0 0 9 0 0 0 0 0 0 0 22.8 165057 chr9 8518098 8518098 C A rs145325302 PTPRD Synonymous SNV S421S 0.007 0.003 0.017 1 8 1 0.003 5 0 0 0 0 5.715 165058 chr1 109198243 109198243 T C rs751655490 HENMT1 Synonymous SNV G76G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.839 165059 chr9 140100276 140100276 C G NDOR1 Nonsynonymous SNV T16R 0.002 0 0 0 2 0 0 0 0 0 0 0 32 165060 chr9 90582516 90582516 G T CDK20 Nonsynonymous SNV P280Q 0.006 0 0 0 7 0 0 0 0 0 0 0 31 165061 chrX 11160377 11160377 C T rs758375908 ARHGAP6 Nonsynonymous SNV G565R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 165062 chr10 6472834 6472834 G A rs753492294 PRKCQ Nonsynonymous SNV R572W 0.006 0 0 0 7 0 0 0 0 0 0 0 29.1 165063 chr17 27042478 27042478 T - rs749380302 RAB34 T143Pfs*9 0 0 0.003 1 0 0 0.003 1 0 0 0 0 165064 chr10 70513743 70513743 A G CCAR1 Nonsynonymous SNV N403S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 165065 chr17 27308590 27308590 T A rs1046992060 SEZ6 Nonsynonymous SNV T175S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 165066 chr10 71690221 71690221 A T rs200631381 COL13A1 Synonymous SNV G464G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 2.894 165067 chr10 71883805 71883805 C A rs755602894 AIFM2 Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 165068 chr10 121431952 121431952 G A rs144034433 BAG3 Synonymous SNV T231T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.83 165069 chr17 33586067 33586068 AG - SLFN5 R122Nfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 165070 chr10 76857615 76857615 G A rs138543174 DUSP13 Nonsynonymous SNV R60W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 165071 chrX 151821294 151821294 C A rs782197983 GABRQ Synonymous SNV R483R 0.01 0.003 0 2 12 1 0.005 0 3 0 0 0 12.62 165072 chrX 151821347 151821347 A G rs781816211 GABRQ Nonsynonymous SNV N501S 0.01 0.003 0 3 12 1 0.008 0 3 0 0 0 6.449 165073 chr10 125426253 125426253 C T rs62640898 GPR26 Synonymous SNV F110F 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 9.911 165074 chr7 121651597 121651597 C T rs760236914 PTPRZ1 Nonsynonymous SNV R833C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 32 165075 chr10 126714802 126714802 G C rs760488060 CTBP2 Synonymous SNV P509P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.023 165076 chr12 53703437 53703437 G T rs779591035 AAAS Nonsynonymous SNV A220D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 165077 chr10 91065833 91065833 C T rs201448549 IFIT2 Synonymous SNV Y40Y 0.007 0 0.014 0 8 0 0 4 1 0 0 0 7.762 165078 chr1 67672666 67672666 G T rs369986474 IL23R Nonsynonymous SNV W242C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 25.2 165079 chr17 39092584 39092584 C T rs148131200 KRT23 Nonsynonymous SNV R91H 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 24.3 165080 chr7 137640042 137640042 G A CREB3L2-AS1 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 3.951 165081 chr10 97516097 97516097 T G ENTPD1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 165082 chr10 97516215 97516215 G T ENTPD1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.609 165083 chr9 79999548 79999556 TGATGATGA - rs754162622 VPS13A D3087_D3089del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 165084 chr9 8436642 8436642 T C rs373554730 PTPRD Nonsynonymous SNV I939V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 165085 chr12 65130804 65130804 T C GNS Nonsynonymous SNV K360E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.56 165086 chr1 156316741 156316741 T C rs56410778 TSACC Synonymous SNV L116L 0.002 0.01 0.017 2 2 4 0.005 5 0 0 0 0 0.276 165087 chr12 6560499 6560499 G A CD27 Nonsynonymous SNV G242S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 165088 chrX 70360589 70360597 AGCAGCAGC - MED12 Q2074_Q2076del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 165089 chr1 156438648 156438656 GCTGTGGCT - rs778272206 MEF2D Q381_Q383del 0 0.005 0 2 0 2 0.005 0 0 0 0 0 165090 chr10 22023001 22023001 C T rs769302925 MLLT10 Nonsynonymous SNV T934I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 165091 chrX 100278552 100278552 A G rs149257116 TRMT2B Synonymous SNV H221H 0.003 0.003 0 2 3 1 0.005 0 1 0 0 0 5.901 165092 chr17 39622430 39622430 - TG rs779155080 KRT32 0 0 0.003 0 0 0 0 1 0 0 0 0 165093 chr12 70963460 70963460 C T rs113284091 PTPRB Nonsynonymous SNV R902Q 0.008 0.003 0 0 9 1 0 0 0 0 0 0 21.9 165094 chr17 39991322 39991322 C T NT5C3B Synonymous SNV E76E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 165095 chr12 72092865 72092865 T G rs145012054 TMEM19 Nonsynonymous SNV L275V 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 25.1 165096 chr10 102249099 102249099 G A rs140387838 SEC31B Synonymous SNV T1027T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.755 165097 chr12 78511876 78511876 C A rs781411104 NAV3 Nonsynonymous SNV P947T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.045 165098 chr17 42254505 42254505 T C rs1008447850 ASB16 Synonymous SNV C323C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.202 165099 chrX 132834019 132834019 T C rs757269723 GPC3 Nonsynonymous SNV Y303C 0.003 0 0 3 3 0 0.008 0 0 0 0 1 23.8 165100 chr1 915740 915740 C T rs1030244463 PERM1 Nonsynonymous SNV G224R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 165101 chr1 934792 934792 C T HES4 Nonsynonymous SNV A131T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 165102 chr17 42987581 42987581 G T GFAP Nonsynonymous SNV L407I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.73 165103 chr10 112572147 112572147 C T rs41292592 RBM20 Synonymous SNV P664P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.83 165104 chr10 114057953 114057953 G A rs574904657 TECTB Synonymous SNV T266T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.16 165105 chr12 88376891 88376891 T G rs142328329 C12orf50 Nonsynonymous SNV K364T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 28.9 165106 chr12 88379773 88379773 C T rs78562422 C12orf50 Nonsynonymous SNV R288Q 0 0.005 0 2 0 2 0.005 0 0 0 0 0 15.98 165107 chr17 45699143 45699143 G C rs34598464 NPEPPS Nonsynonymous SNV E873Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.7 165108 chr12 88478370 88478370 G A rs751408783 CEP290 Nonsynonymous SNV A1566V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 165109 chr1 1562783 1562783 G A rs749128751 MIB2 Synonymous SNV P544P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.2 165110 chr1 1850628 1850645 AGCGGCAGGAGCGGCAGG - rs780287502 TMEM52 L21_L26del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 165111 chr1 1850637 1850645 AGCGGCAGG - TMEM52 L24_L26del 0 0.003 0 0 0 1 0 0 0 0 0 0 165112 chr10 47086797 47086797 A C NPY4R, NPY4R2 Nonsynonymous SNV H5P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.749 165113 chr10 115803905 115803905 T C rs545019520 ADRB1 Nonsynonymous SNV V5A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.002 165114 chr12 91348302 91348302 G C rs561247270 CCER1 Nonsynonymous SNV P73R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.79 165115 chr10 115804119 115804119 T C rs140442073 ADRB1 Synonymous SNV N76N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.714 165116 chr10 115805238 115805238 C G rs751247368 ADRB1 Synonymous SNV A449A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.34 165117 chr1 2125193 2125193 G T rs751549543 FAAP20 Stop gain C73X 0 0.003 0 0 0 1 0 0 0 0 0 0 0.823 165118 chr1 167042739 167042739 C T rs142251750 GPA33 Synonymous SNV P27P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11 165119 chr10 50178223 50178223 C T rs117117760 WDFY4 Synonymous SNV C2939C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.33 165120 chr17 4806002 4806002 A G rs144169073 CHRNE Nonsynonymous SNV Y35H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 165121 chr10 118315618 118315618 C T PNLIP Synonymous SNV N306N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.06 165122 chrX 153296090 153296090 C T rs56268439 MECP2 Nonsynonymous SNV E409K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.05 165123 chr17 48433562 48433562 T C rs776037521 XYLT2 Synonymous SNV I474I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.242 165124 chr1 5935038 5935038 C T rs146948888 NPHP4 Synonymous SNV T468T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.679 165125 chrX 2867650 2867650 G A rs5982618 ARSL Synonymous SNV R129R 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 4.471 165126 chr17 49340637 49340637 T C rs28379319 UTP18 Synonymous SNV V115V 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 9.252 165127 chr17 50939728 50939728 C T rs148199412 LINC02089 0 0 0.014 0 0 0 0 4 0 0 0 0 3.258 165128 chr1 6536052 6536052 G A rs111400494 PLEKHG5 Nonsynonymous SNV R30C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 165129 chr1 118624047 118624047 G T SPAG17 Nonsynonymous SNV Q661K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 165130 chr7 27203225 27203225 C G HOXA9 Nonsynonymous SNV E272D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 165131 chr1 8384398 8384398 C T rs138622022 SLC45A1 Synonymous SNV P3P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.71 165132 chr13 109318370 109318370 G A rs117770145 MYO16 Synonymous SNV E55E 0.003 0.013 0.003 5 3 5 0.013 1 0 0 0 0 Benign 0.207 165133 chr1 9790628 9790628 C T rs776908677 CLSTN1 Nonsynonymous SNV D943N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24 165134 chrX 48855865 48855865 G A rs782643265 GRIPAP1 Nonsynonymous SNV R32C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 165135 chr1 9796070 9796070 C T rs370456121 CLSTN1 Nonsynonymous SNV R517Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.3 165136 chrX 63411365 63411365 C T rs149865410 AMER1 Nonsynonymous SNV R601Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.622 165137 chr17 61934783 61934783 T C rs2584610 TCAM1P 0 0 0.044 0 0 0 0 13 0 0 6 0 8.817 165138 chr7 34818167 34818167 G A rs373742826 NPSR1 Nonsynonymous SNV R114H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 165139 chr10 134736019 134736019 G T rs41302993 CFAP46 Nonsynonymous SNV R484S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 22.4 165140 chr13 114778663 114778663 G C rs760199246 RASA3 Synonymous SNV P457P 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.343 165141 chr1 192628584 192628584 C T rs140851201 RGS13 Synonymous SNV Y137Y 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 9.784 165142 chr1 196295914 196295914 C G rs41304558 KCNT2 Nonsynonymous SNV V687L 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 22.7 165143 chr1 196706649 196706649 A G CFH Nonsynonymous SNV I881V 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 0.056 165144 chr7 3991483 3991483 G A rs753495561 SDK1 Nonsynonymous SNV V361I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.041 165145 chr1 197611925 197611925 G A rs7523384 DENND1B Synonymous SNV A196A 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 6.24 165146 chr1 153333263 153333263 C T rs140431183 S100A9 Synonymous SNV D98D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.2 165147 chr10 7627954 7627954 T G ITIH5 Nonsynonymous SNV I126L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.8 165148 chr17 6917577 6917577 A G rs534459797 RNASEK Nonsynonymous SNV N129S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 165149 chr1 154918890 154918890 G A rs142114837 PBXIP1 Synonymous SNV S265S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.084 165150 chr17 70117732 70117732 A G rs769953292 SOX9 Nonsynonymous SNV D67G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 165151 chr10 101507035 101507035 C T CUTC Nonsynonymous SNV P154L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 165152 chr1 155264401 155264401 C T PKLR Synonymous SNV G279G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.354 165153 chr7 45121432 45121432 C T rs763257294 NACAD Synonymous SNV S1369S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.65 165154 chr1 21936637 21936637 C T rs368247421 RAP1GAP Synonymous SNV G389G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.55 165155 chr17 72758154 72758154 G A rs752725349 SLC9A3R1 Nonsynonymous SNV E149K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 165156 chr7 50737469 50737469 G C rs200175899 GRB10 Nonsynonymous SNV P152A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.46 165157 chr10 96748653 96748653 A C rs59485260 CYP2C9 Nonsynonymous SNV L447F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.1 165158 chr1 158746588 158746588 C T rs186539843 OR6N2 Nonsynonymous SNV V280I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.31 165159 chr11 16847815 16847815 C G rs762436317 PLEKHA7 Nonsynonymous SNV A399P 0.003 0 0 0 4 0 0 0 0 0 0 0 2.996 165160 chr10 97731966 97731966 A G CC2D2B Synonymous SNV V596V 0.003 0 0 0 3 0 0 0 0 0 0 0 3.824 165161 chr10 327226 327226 G A rs144874172 DIP2C Synonymous SNV D1444D 0.002 0.01 0 0 2 4 0 0 0 0 0 0 5.391 165162 chr17 73910030 73910030 C G rs773020817 FBF1 Nonsynonymous SNV Q1031H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.8 165163 chr13 51935474 51935474 A G rs75627877 SERPINE3 Nonsynonymous SNV E354G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 165164 chr1 27320730 27320730 G T rs146158445 TRNP1 Synonymous SNV L151L 0.005 0.005 0.003 2 6 2 0.005 1 2 0 0 1 10.67 165165 chr10 11911562 11911562 C T rs778502422 PROSER2 Synonymous SNV P155P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.52 165166 chr1 29475587 29475587 C T SRSF4 Nonsynonymous SNV E274K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 165167 chr1 31896697 31896697 A G SERINC2 Nonsynonymous SNV Y70C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 165168 chr13 78138006 78138006 C T rs760072376 SCEL Nonsynonymous SNV R88W 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.6 165169 chr1 32672189 32672189 G A rs41311187 IQCC Nonsynonymous SNV C169Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.46 165170 chr10 51562314 51562314 A G rs782018653 MSMB Nonsynonymous SNV I87V 0 0.008 0 2 0 3 0.005 0 0 0 0 0 9.567 165171 chr1 38270002 38270002 C T rs61778075 YRDC Nonsynonymous SNV G247R 0.006 0.01 0 4 7 4 0.01 0 0 0 0 0 34 165172 chr14 101350484 101350484 G A rs1042185876 RTL1 Synonymous SNV H214H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.04 165173 chr11 292060 292060 G A rs114207298 PGGHG Nonsynonymous SNV G331R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 165174 chr17 78704458 78704458 C T rs751301732 RPTOR Synonymous SNV I202I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.63 165175 chr14 103566645 103566645 G A rs769031965 EXOC3L4 Nonsynonymous SNV R30Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.614 165176 chr7 91753166 91753166 G A rs200921006 CYP51A1 Nonsynonymous SNV R258C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 165177 chr1 231856738 231856738 T C rs553352862 DISC1 Nonsynonymous SNV L388P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.762 165178 chr14 105207011 105207011 G A rs772909262 ADSS1 Nonsynonymous SNV D184N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 34 165179 chr17 79899349 79899349 G C rs750152839 MYADML2 Nonsynonymous SNV A90G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.7 165180 chr14 105268213 105268213 C T ZBTB42 Nonsynonymous SNV R227W 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24 165181 chr14 105350343 105350343 C T rs751471747 CEP170B Synonymous SNV F339F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 14.79 165182 chr14 105407058 105407058 C T rs149863648 AHNAK2 Synonymous SNV Q4810Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.234 165183 chr10 135015392 135015392 C T rs200951131 KNDC1 Nonsynonymous SNV A1126V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.01 165184 chr17 8025187 8025187 C A rs201278621 HES7 Nonsynonymous SNV R132L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 33 165185 chr14 105612170 105612170 G A rs587669888 JAG2 Synonymous SNV G912G 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Likely benign 5.854 165186 chr14 105683960 105683960 C A rs188142316 BRF1 Nonsynonymous SNV A327S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Uncertain significance 0.037 165187 chr10 135371416 135371416 A C rs147617180 SYCE1 Nonsynonymous SNV L109R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.8 165188 chr11 44100332 44100332 G A rs762228328 ACCS Synonymous SNV K277K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 165189 chr10 16989353 16989353 C T rs375723034 CUBN Synonymous SNV T1741T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 15.59 165190 chr11 108047778 108047778 A G rs377600506 NPAT Synonymous SNV L316L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 7.844 165191 chr17 9764490 9764490 C T rs767706625 GLP2R Synonymous SNV F320F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.876 165192 chr11 45274235 45274235 C T rs146853860 SYT13 Nonsynonymous SNV V195I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.057 165193 chr8 10468709 10468709 C T rs201302817 RP1L1 Nonsynonymous SNV E967K 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Likely benign 23.1 165194 chr10 74684139 74684139 C T rs373898056 OIT3 Synonymous SNV Y368Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12 165195 chr1 48694997 48694997 G A rs141515954 SLC5A9 Nonsynonymous SNV V124I 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 12.87 165196 chr11 47595036 47595036 G A KBTBD4 Synonymous SNV L384L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.221 165197 chr18 21512211 21512211 C T rs138908985 LAMA3 Synonymous SNV G1223G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.2 165198 chr18 25565084 25565084 G A rs754165315 CDH2 Nonsynonymous SNV R666C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 165199 chr10 81925866 81925866 T C rs72807973 ANXA11 Nonsynonymous SNV I278V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.008 165200 chr8 124142567 124142567 G T rs149139390 TBC1D31 Synonymous SNV G300G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.34 165201 chr10 88441223 88441223 G A rs35507268 LDB3 Nonsynonymous SNV V118M 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign/Likely benign 12.98 165202 chr18 29487564 29487564 C T rs147183785 TRAPPC8 Synonymous SNV P416P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 165203 chr10 90356568 90356568 T G rs77091298 LIPJ Nonsynonymous SNV F200V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.5 165204 chr1 248186043 248186043 G T OR2L5 Nonsynonymous SNV R265L 0 0 0 2 0 0 0.005 0 0 0 0 0 20.2 165205 chr1 248309095 248309095 G A rs143666857 OR2M5 Nonsynonymous SNV A216T 0.003 0.01 0 4 4 4 0.01 0 0 0 0 0 8.258 165206 chr14 24898085 24898085 G A rs776663495 CBLN3 Nonsynonymous SNV P59L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 165207 chr1 248551191 248551191 C G rs756942922 OR2T6 Nonsynonymous SNV F94L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.09 165208 chr11 119998271 119998271 T C rs35292848 TRIM29 Nonsynonymous SNV T42A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 165209 chr18 45556010 45556010 C T rs748884752 ZBTB7C Nonsynonymous SNV G494E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.4 165210 chr14 32295912 32295912 C T rs35867418 NUBPL Nonsynonymous SNV H46Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 165211 chr1 75107089 75107089 G T rs367573285 ERICH3 Nonsynonymous SNV P124T 0 0.005 0 0 0 2 0 0 0 0 0 0 24.4 165212 chr1 215777564 215777564 G T rs141142430 KCTD3 Nonsynonymous SNV G410V 0.002 0 0 0 2 0 0 0 0 0 0 0 33 165213 chr11 124056314 124056314 T G rs1027910327 OR10D3 Nonsynonymous SNV F113C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.38 165214 chr18 59221583 59221583 G A rs779782338 CDH20 Synonymous SNV R687R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.215 165215 chr1 89480282 89480282 G A rs150429744 GBP3 Nonsynonymous SNV L126F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.023 165216 chr1 89480283 89480283 A G rs141293173 GBP3 Synonymous SNV T125T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.162 165217 chr1 223396852 223396852 T C rs199636537 SUSD4 Nonsynonymous SNV M395V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.431 165218 chr8 144809962 144809962 C A rs312262803 FAM83H Nonsynonymous SNV G557C 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 Uncertain significance 22.7 165219 chr2 24443841 24443841 G A rs144159139 ITSN2 Synonymous SNV Y1184Y 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 9.385 165220 chr10 56077067 56077067 G A rs201674866 PCDH15 Synonymous SNV L243L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.6 165221 chr1 223987605 223987605 G A rs143699777 TP53BP2 Nonsynonymous SNV A494V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 165222 chr2 25819082 25819082 T C rs747144913 DTNB Nonsynonymous SNV N102S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.59 165223 chr2 25982381 25982381 C T rs760516696 ASXL2 Synonymous SNV L43L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.31 165224 chr8 144991271 144991271 C T rs201688261 PLEC Nonsynonymous SNV A4226T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.19 165225 chr18 70829080 70829080 T C rs17087022 LOC400655 0 0 0.048 0 0 0 0 14 0 0 0 0 1.406 165226 chr1 92459701 92459701 C T rs776883119 BRDT Nonsynonymous SNV P680L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 165227 chr14 60018098 60018098 T C rs1041988103 CCDC175 Nonsynonymous SNV N337S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 165228 chr11 129780436 129780436 T G rs141740226 PRDM10 Nonsynonymous SNV Q900P 0.014 0.01 0.01 4 17 4 0.01 3 0 0 0 0 20.8 165229 chr11 55681912 55681912 G T rs777724560 OR5W2 Synonymous SNV I49I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.236 165230 chr14 61909908 61909908 C T rs140324794 PRKCH Synonymous SNV I169I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 165231 chr10 70209836 70209836 C T rs16925390 DNA2 Synonymous SNV P296P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 16.03 165232 chr10 70229910 70229910 T C rs542325199 DNA2 Nonsynonymous SNV K29E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.37 165233 chr11 102647362 102647362 A G MMP10 Synonymous SNV N256N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.28 165234 chr1 100963746 100963746 G A rs756072930 CDC14A Synonymous SNV S175S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.029 165235 chr10 71151885 71151885 C T rs2229387 HK1 Synonymous SNV T648T 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign 13.88 165236 chr11 16838633 16838633 T C PLEKHA7 Nonsynonymous SNV Q527R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 165237 chr11 102960013 102960013 T A rs149803369 DCUN1D5 Nonsynonymous SNV S41C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 24.8 165238 chr1 107599668 107599668 G A rs1032764763 PRMT6 Nonsynonymous SNV V111I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.3 165239 chr8 146278013 146278013 C G rs781239458 C8orf33 Synonymous SNV G16G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.125 165240 chr10 72493701 72493701 C T rs753391063 ADAMTS14 Synonymous SNV S423S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.89 165241 chr8 17412204 17412204 G C rs145415951 SLC7A2 Synonymous SNV V397V 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 8.777 165242 chr2 33042556 33042556 T C rs200930000 TTC27 Nonsynonymous SNV S731P 0 0.003 0 4 0 1 0.01 0 0 0 0 0 8.849 165243 chr2 37415764 37415764 A C SULT6B1 Nonsynonymous SNV F7C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 165244 chr8 18729718 18729718 G A rs777390079 PSD3 Nonsynonymous SNV A186V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.43 165245 chr10 74690396 74690396 G A rs765531659 OIT3 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 27.6 165246 chr19 10670333 10670333 G A rs374175757 KRI1 Nonsynonymous SNV R327C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 165247 chr11 19209814 19209814 C T rs7124801 CSRP3 Synonymous SNV A50A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 12.1 165248 chr11 19970273 19970273 G A rs61976957 NAV2 Synonymous SNV T700T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.13 165249 chr19 11363524 11363524 A G DOCK6 Synonymous SNV D81D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.424 165250 chr14 78205189 78205189 T C rs147154490 SNW1 Synonymous SNV V155V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.607 165251 chr19 13039185 13039185 C T rs375272364 FARSA Nonsynonymous SNV R271H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 165252 chr2 62728393 62728393 G A rs765360386 TMEM17 Nonsynonymous SNV A183V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.66 165253 chr11 11964424 11964424 C T rs188431516 USP47 Synonymous SNV C778C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.882 165254 chr19 14024332 14024332 C T rs778439512 CC2D1A Nonsynonymous SNV A210V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 165255 chr11 57094216 57094216 C T SSRP1 Synonymous SNV S673S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 165256 chr19 1462114 1462114 C T rs142142534 APC2 Synonymous SNV I596I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 165257 chr1 147380467 147380467 G A rs142415337 GJA8 Nonsynonymous SNV V129I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.027 165258 chr14 92150289 92150289 T A CATSPERB 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 165259 chr19 15349196 15349196 G T BRD4 Nonsynonymous SNV L1361I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.46 165260 chr19 1555839 1555839 G C rs538022731 MEX3D Nonsynonymous SNV T560R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 165261 chr19 15587421 15587421 T C PGLYRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 165262 chr1 152058015 152058015 C T rs766789771 TCHHL1 Nonsynonymous SNV E715K 0 0.008 0 0 0 3 0 0 0 0 0 0 19 165263 chr11 58919539 58919539 G A rs374319106 FAM111A Nonsynonymous SNV G133E 0.003 0 0 0 4 0 0 0 0 0 0 0 18.05 165264 chr14 94909440 94909440 C T SERPINA11 Nonsynonymous SNV G347E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.98 165265 chr1 248789983 248789983 - C OR2T11 Frameshift insertion S150Lfs*28 0.004 0.003 0 0 5 1 0 0 0 0 0 0 165266 chr11 123893888 123893888 A - rs773699413 OR10G9 M57Cfs*24 0.001 0.003 0 0 1 1 0 0 0 0 0 0 165267 chr14 95053884 95053884 G A rs372991959 SERPINA5 Nonsynonymous SNV S62N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.003 165268 chr14 95562995 95562997 TCC - rs544960260 DICER1 E1420del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 165269 chr19 17316825 17316825 C T rs370711948 MYO9B Synonymous SNV S1707S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.1 165270 chr8 6669402 6669402 G A rs201279134 XKR5 Nonsynonymous SNV R460C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.247 165271 chr15 25940168 25940168 C T rs112134913 ATP10A Synonymous SNV T962T 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 Benign 14.9 165272 chr11 47833718 47833718 C A rs750442923 NUP160 Synonymous SNV G713G 0.008 0.005 0 0 9 2 0 0 0 0 0 0 18.88 165273 chr11 47834900 47834900 A G NUP160 Nonsynonymous SNV L585P 0.001 0 0 0 1 0 0 0 0 0 0 0 29 165274 chr11 126283899 126283899 G A rs143689441 ST3GAL4 Nonsynonymous SNV R319Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 165275 chr19 18377454 18377454 G A IQCN Nonsynonymous SNV S299F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.594 165276 chr19 18895109 18895109 G C rs150534218 COMP Nonsynonymous SNV T660R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.2 165277 chr1 158517674 158517674 C T OR6Y1 Synonymous SNV L74L 0 0.005 0 0 0 2 0 0 0 0 0 0 8.857 165278 chr15 40699841 40699841 G C rs2229311 IVD Nonsynonymous SNV R34P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 34 165279 chr8 94770767 94770767 C T rs115640152 TMEM67 Synonymous SNV A123A 0.007 0 0.007 1 8 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.7 165280 chr15 40914230 40914230 G T rs201334214 KNL1 Nonsynonymous SNV A590S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 0.001 165281 chr11 63520581 63520581 T C RTN3 Nonsynonymous SNV V177A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 165282 chr15 40916035 40916035 A G rs200222327 KNL1 Nonsynonymous SNV I1191M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 0.716 165283 chr1 159805086 159805086 C T rs149303739 SNHG28 0.002 0.008 0 0 2 3 0 0 0 0 0 0 3.965 165284 chr11 63960621 63960621 C T rs151183233 STIP1 Synonymous SNV Y74Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.531 165285 chr2 27430464 27430464 C T rs201078481 SLC5A6 Nonsynonymous SNV V19M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 165286 chr8 97157450 97157450 A G GDF6 Nonsynonymous SNV W237R 0 0 0 5 0 0 0.013 0 0 0 0 0 12.09 165287 chr19 3061180 3061180 G A rs149691353 TLE5 Synonymous SNV L35L 0 0 0.01 0 0 0 0 3 0 0 0 0 9.698 165288 chr11 18737071 18737073 GCA - rs751197082 IGSF22 D479_A480delinsE 0 0.003 0 1 0 1 0.003 0 0 0 0 0 165289 chr11 18737075 18737095 CCTCAATGATCAGCTCTGCTC - rs757027011 IGSF22 R472_D479delinsH 0 0.003 0 1 0 1 0.003 0 0 0 0 0 165290 chr11 102661520 102661520 C T rs17879165 MMP1 Nonsynonymous SNV R339Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 9.461 165291 chr1 161168120 161168120 A G rs113202559 ADAMTS4 Nonsynonymous SNV S100P 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 10.46 165292 chr15 43360142 43360142 C A rs150617078 UBR1 Nonsynonymous SNV C251F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 165293 chr15 43571960 43571960 C G TGM7 Nonsynonymous SNV R514T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.72 165294 chr19 35625497 35625497 G A rs369943058 LGI4 Nonsynonymous SNV R30C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.74 165295 chr2 122106141 122106141 C T rs750670500 CLASP1 Nonsynonymous SNV A1387T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 165296 chr11 65394881 65394881 G A rs117574905 PCNX3 Nonsynonymous SNV R1177Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 165297 chr19 36224293 36224293 G A rs887912561 KMT2B Synonymous SNV V2281V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.264 165298 chr15 48755406 48755406 G A rs368979510 FBN1 Synonymous SNV Y1699Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 4.221 165299 chr19 36431525 36431525 C T rs115188525 LRFN3 Nonsynonymous SNV P400S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.36 165300 chr19 36435738 36435738 - C rs769747218 LRFN3 Frameshift insertion G571Rfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 165301 chr11 113269817 113269817 G A rs56299709 ANKK1 Nonsynonymous SNV E376K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.1 165302 chr11 113270475 113270475 C T rs55787008 ANKK1 Nonsynonymous SNV T595I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.1 165303 chr11 113270728 113270728 A G rs17115461 ANKK1 Synonymous SNV L679L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.012 165304 chr11 66063091 66063091 C T rs189181572 TMEM151A Synonymous SNV S458S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 165305 chr19 3733847 3733847 C T rs757424680 TJP3 Nonsynonymous SNV R272C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 165306 chr11 113935094 113935094 G A rs142709090 ZBTB16 Nonsynonymous SNV V358M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 10.36 165307 chr11 66626028 66626028 G A rs983248854 LRFN4 Synonymous SNV V271V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 2.627 165308 chr15 59445836 59445836 C T rs768276081 MYO1E Synonymous SNV T1011T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.98 165309 chr19 39663972 39663972 A T PAK4 Nonsynonymous SNV T207S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.159 165310 chr19 39860524 39860524 A G rs140200767 SAMD4B Synonymous SNV A142A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.614 165311 chr11 45203856 45203856 G A PRDM11 Nonsynonymous SNV R60H 0 0.003 0 0 0 1 0 0 0 0 0 0 25 165312 chr15 65110513 65110514 GA - rs958971251 PIF1 R491Gfs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 165313 chr11 45937817 45937817 G A rs757594159 PEX16 Synonymous SNV D62D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.42 165314 chrX 107829895 107829903 TGGGTTGCC - rs765552839 COL4A5 L366_G368del 0.003 0 0 0 4 0 0 0 1 0 0 0 165315 chr11 71718414 71718414 G A rs200233406 NUMA1 Nonsynonymous SNV R1748C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 165316 chr11 123624327 123624327 T C rs142799807 OR6X1 Synonymous SNV R300R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.094 165317 chr1 201017777 201017777 G A rs757017761 CACNA1S Synonymous SNV D1458D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 7.756 165318 chr2 175619129 175619129 A G CHRNA1 Nonsynonymous SNV F120L 0 0 0 2 0 0 0.005 0 0 0 0 0 32 165319 chr9 130160194 130160194 C T rs758033856 SLC2A8 Nonsynonymous SNV T77I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.6 165320 chr19 44470710 44470710 A G ZNF221 Synonymous SNV A352A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.077 165321 chr11 7949994 7949994 A G OR10A6 Synonymous SNV S72S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 165322 chr19 44933861 44933863 AAG - rs752462807 ZNF229 L359del 0 0 0.003 0 0 0 0 1 0 0 0 0 165323 chr11 85365254 85365254 A G rs371334632 TMEM126A Synonymous SNV T8T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 0.759 165324 chr11 85436400 85436400 G A rs147682106 SYTL2 Nonsynonymous SNV P1334L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.76 165325 chr9 134103719 134103719 - TAAGCCCCCTGGGGAGGGCCCTT rs775840508 NUP214 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 165326 chr2 197767335 197767335 G A rs759213337 PGAP1 Nonsynonymous SNV H261Y 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 21.1 165327 chr15 86278315 86278315 G A rs141334273 AKAP13 Nonsynonymous SNV V1080I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.35 165328 chr2 200820185 200820185 C T rs775492128 TYW5 Synonymous SNV G3G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.656 165329 chr11 9225553 9225553 G A rs144366770 DENND5A Synonymous SNV L177L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 8.743 165330 chr19 47878853 47878853 C T rs963663157 DHX34 Nonsynonymous SNV A732V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.187 165331 chr19 48244357 48244357 G T rs199512201 EHD2 Nonsynonymous SNV G434C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 165332 chr2 207635985 207635985 G T FASTKD2 Nonsynonymous SNV A321S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.7 165333 chr19 48997180 48997182 TCC - rs781463728 LMTK3 E1316del 0.001 0 0.01 0 1 0 0 3 0 0 0 0 165334 chr19 49001527 49001527 G A rs1799285 LMTK3 Synonymous SNV D962D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 165335 chr19 49001628 49001628 C G rs1643478 LMTK3 Nonsynonymous SNV V929L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.785 165336 chr11 61026169 61026169 C T rs143205377 VWCE Nonsynonymous SNV R949Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.355 165337 chr11 61026652 61026652 G T rs149908344 VWCE Nonsynonymous SNV T788K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.003 165338 chr9 139232365 139232365 G A rs117806164 GPSM1 Synonymous SNV L255L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.48 165339 chr15 91420188 91420188 C T rs149242754 FURIN Synonymous SNV H145H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 165340 chr1 226046964 226046964 T C rs149848059 TMEM63A Nonsynonymous SNV T437A 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 26.2 165341 chr19 49574125 49574125 G T KCNA7 Nonsynonymous SNV P189Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.98 165342 chr9 139358012 139358012 T C rs772075776 SEC16A Nonsynonymous SNV N1517S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.53 165343 chr1 227153044 227153044 C A rs181579601 COQ8A Nonsynonymous SNV T174K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 165344 chr1 227843290 227843290 A G rs138667932 ZNF678 Nonsynonymous SNV I471V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 165345 chr11 62342961 62342961 C T TUT1 Nonsynonymous SNV E744K 0.008 0.005 0 0 9 2 0 0 0 0 0 0 10.19 165346 chr19 50216065 50216065 A G rs143091111 CPT1C Nonsynonymous SNV N698D 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Uncertain significance 24.5 165347 chr11 62649421 62649421 G T rs145066571 SLC3A2 Nonsynonymous SNV G161C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 33 165348 chr12 108589681 108589681 A C rs200435102 WSCD2 Synonymous SNV A24A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.542 165349 chr9 140115373 140115373 G A rs201921996 RNF208 Nonsynonymous SNV P98S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.86 165350 chr11 28110243 28110243 G A rs374974288 KIF18A Nonsynonymous SNV T242I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25 165351 chr1 228559243 228559243 C T rs762270964 OBSCN Nonsynonymous SNV R6922C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 165352 chr16 1254345 1254345 G T rs60534546 CACNA1H Nonsynonymous SNV V780F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16 165353 chr11 63884690 63884690 G A rs140370010 FLRT1 Synonymous SNV L317L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.848 165354 chr11 63996767 63996767 G A rs141444103 NUDT22 Nonsynonymous SNV A177T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 165355 chr11 299471 299471 C T rs74557511 IFITM5 Nonsynonymous SNV R7H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 26.3 165356 chr19 51301415 51301415 G A rs73586837 C19orf48 Synonymous SNV T97T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.345 165357 chr19 51412010 51412010 G A rs198966 KLK4 Synonymous SNV S5S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.722 165358 chr19 51412611 51412611 A G rs775083857 KLK4 Nonsynonymous SNV S41P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 165359 chr16 14015897 14015897 A G rs141591400 ERCC4 Nonsynonymous SNV I73V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 21.4 165360 chr19 51518190 51518190 G A rs61752565 KLK10 Synonymous SNV L233L 0.003 0.003 0.014 1 3 1 0.003 4 0 0 0 0 6.679 165361 chr16 1489061 1489061 C T rs549704561 CCDC154 Nonsynonymous SNV G248S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.095 165362 chr19 51671451 51671451 C T rs61732207 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.196 165363 chr19 51738933 51738933 T C rs273621 CD33 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 22.2 165364 chr1 238053787 238053787 G A rs150927250 ZP4 Nonsynonymous SNV T50M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.09 165365 chr16 1664798 1664798 G A CRAMP1 Nonsynonymous SNV R53Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 165366 chr1 242264053 242264053 C T PLD5 Nonsynonymous SNV C216Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 165367 chr1 245006439 245006439 C T rs1053697 COX20 Synonymous SNV L61L 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 19.11 165368 chr9 21859379 21859379 T G rs62556500 MTAP Synonymous SNV P256P 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 14.81 165369 chr1 246490592 246490592 C T rs756702699 SMYD3 Nonsynonymous SNV V148I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 165370 chr2 170136046 170136046 T G rs776298973 LRP2 Nonsynonymous SNV E467D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 165371 chr2 171323116 171323116 G A rs35169479 MYO3B Nonsynonymous SNV R970Q 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.6 165372 chr12 12022455 12022455 G A rs375865123 ETV6 Synonymous SNV T187T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.146 165373 chr19 54756836 54756836 G A rs373057321 LILRB5 Synonymous SNV L358L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.108 165374 chr11 67075687 67075687 C T rs201982384 SSH3 Stop gain Q310X 0.003 0 0 0 4 0 0 0 0 0 0 0 37 165375 chr19 54844920 54844920 G C rs200162955 LILRA4 Nonsynonymous SNV P475A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 165376 chr11 67262355 67262355 C G PITPNM1 Nonsynonymous SNV E901Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 165377 chr2 238285513 238285513 G A rs202185764 COL6A3 Nonsynonymous SNV A384V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Uncertain significance 5.906 165378 chr16 2765717 2765717 A G rs767296390 PRSS27 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 165379 chr1 248845349 248845349 C T rs139712934 OR14I1 Nonsynonymous SNV R86H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.259 165380 chr9 5689961 5689961 G A rs770628081 RIC1 Synonymous SNV T85T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 12.98 165381 chr2 185801877 185801877 C G rs373736637 ZNF804A Nonsynonymous SNV T585S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.154 165382 chr2 186618457 186618457 T A FSIP2 Nonsynonymous SNV D293E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.574 165383 chr16 29870524 29870524 C T rs1054446868 CDIPT Nonsynonymous SNV A165T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.9 165384 chr19 55870150 55870150 G A rs185501624 FAM71E2 Nonsynonymous SNV L696F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 165385 chr2 187541997 187541997 G A ITGAV Nonsynonymous SNV G1006D 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 165386 chr2 10008443 10008443 T C rs115645168 TAF1B Synonymous SNV S146S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.073 165387 chr2 10045055 10045055 G A rs16867223 TAF1B Nonsynonymous SNV R37H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 165388 chr2 10059212 10059212 C T rs6753474 TAF1B Synonymous SNV V183V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.53 165389 chr2 10866636 10866636 C T rs765681984 ATP6V1C2 Synonymous SNV T46T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 165390 chr1 16070941 16070941 T C rs905846755 TMEM82 Nonsynonymous SNV L208P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 165391 chr19 56090520 56090520 C T rs372575125 ZNF579 Synonymous SNV T162T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.928 165392 chr2 11911644 11911644 G A LPIN1 Synonymous SNV T145T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.738 165393 chr19 56104749 56104749 C T rs189761223 FIZ1 Synonymous SNV L186L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.512 165394 chr12 130926958 130926958 G A rs367835655 RIMBP2 Synonymous SNV I296I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.46 165395 chr19 56226457 56226457 G A rs73933317 NLRP9 Nonsynonymous SNV A822V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.991 165396 chr19 56303806 56303806 A C rs80143194 NLRP11 Nonsynonymous SNV C693G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.453 165397 chr2 198482595 198482597 CTT - rs768451395 RFTN2 E326del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 165398 chr12 132633435 132633479 ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC NOC4L D299D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 165399 chr12 132834387 132834387 C T rs556119200 GALNT9 Nonsynonymous SNV R267H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.5 165400 chr1 17597589 17597589 T C rs756806020 PADI3 Synonymous SNV D321D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.051 165401 chr19 56701218 56701218 T G rs888590071 ZSCAN5B Nonsynonymous SNV H489P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 165402 chr12 133202349 133202349 G A rs552452448 POLE Nonsynonymous SNV A2180V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.41 165403 chr1 17723587 17723587 G A rs150981529 PADI6 Nonsynonymous SNV D547N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 6.758 165404 chr2 203395645 203395645 C T rs749523973 BMPR2 Nonsynonymous SNV P366S 0.002 0 0 0 2 0 0 0 0 0 0 0 25 165405 chr11 75134756 75134756 C A KLHL35 Nonsynonymous SNV A515S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 165406 chr1 18023677 18023677 C T rs78752816 ARHGEF10L Synonymous SNV A917A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 165407 chr2 206869383 206869383 C T rs779742041 INO80D Synonymous SNV Q931Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.127 165408 chr2 206921091 206921091 G A rs374973871 INO80D Synonymous SNV P265P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.38 165409 chr11 77921124 77921124 C G USP35 Nonsynonymous SNV H741Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.049 165410 chr16 50342635 50342635 C T rs751132217 ADCY7 Nonsynonymous SNV P665S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 20.6 165411 chrX 119048786 119048786 C G rs61752963 AKAP14 Nonsynonymous SNV A129G 0.002 0.003 0.024 1 2 1 0.003 7 0 0 2 0 12.63 165412 chrX 123538902 123538902 C T rs147882652 TENM1 Synonymous SNV S1783S 0.003 0.003 0 1 4 1 0.003 0 1 0 0 0 Benign 15.36 165413 chrX 129765500 129765500 A G rs143316789 ENOX2 Synonymous SNV P490P 0.002 0 0.007 1 2 0 0.003 2 1 0 1 0 Benign 4.082 165414 chr11 63487150 63487150 T C RTN3 Synonymous SNV I280I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.624 165415 chr19 6418083 6418083 C G rs373886834 KHSRP Nonsynonymous SNV C296S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 165416 chr11 63974995 63974995 C G rs142815441 FERMT3 Nonsynonymous SNV I53M 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 13.8 165417 chr2 217124056 217124056 G T rs747489777 MARCHF4 Synonymous SNV V404V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.632 165418 chr16 57059677 57059677 C T rs201944671 NLRC5 Synonymous SNV S274S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.99 165419 chr11 5530614 5530614 C T rs556714553 UBQLN3 Nonsynonymous SNV D59N 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 23.9 165420 chr2 38178725 38178725 C T rs140287039 RMDN2 Nonsynonymous SNV R123C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.964 165421 chr16 57741404 57741404 C T rs114955852 DRC7 Synonymous SNV H232H 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 8.227 165422 chr2 38570597 38570597 C T ATL2 Nonsynonymous SNV C59Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 165423 chr11 64460344 64460344 C T rs146171320 NRXN2 Synonymous SNV P251P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.55 165424 chr16 57957194 57957194 G A rs148735841 CNGB1 Synonymous SNV T536T 0.009 0.008 0.007 3 10 3 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.895 165425 chr2 219857798 219857798 G T rs138594727 CRYBA2 Nonsynonymous SNV A34E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.58 165426 chrX 142718856 142718856 C T rs782521012 SLITRK4 Synonymous SNV S23S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.25 165427 chr2 46597045 46597045 G A rs777687956 EPAS1 Nonsynonymous SNV E287K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 34 165428 chr19 8200861 8200861 G A rs80125054 FBN3 Synonymous SNV D525D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.372 165429 chr19 8399908 8399908 C T rs755881049 KANK3 Nonsynonymous SNV R268Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.166 165430 chr2 220474124 220474124 C T rs138178069 STK11IP Nonsynonymous SNV R656W 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 24.8 165431 chr12 44148988 44148988 C T rs145711853 PUS7L Nonsynonymous SNV V21I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.041 165432 chr11 65414344 65414344 C G rs201341786 SIPA1 Nonsynonymous SNV I613M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 24.5 165433 chr11 99690483 99690483 - AACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAA rs766473062 CNTN5 Stop gain F89Nfs*2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 165434 chr16 711135 711135 C T rs150239730 WDR90 Nonsynonymous SNV A1159V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 165435 chrX 21887759 21887759 T C rs772548956 MBTPS2 Synonymous SNV S311S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.926 165436 chr1 34631370 34631370 T C rs142482593 CSMD2 Synonymous SNV Q15Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.067 165437 chrX 23019670 23019670 G T rs76530462 DDX53 Nonsynonymous SNV G499V 0.002 0 0.017 1 2 0 0.003 5 0 0 2 0 Benign 23.7 165438 chrX 23928482 23928482 A G rs113507987 CXorf58 Synonymous SNV Q21Q 0.006 0.005 0.01 9 7 2 0.023 3 1 0 1 3 0.006 165439 chr12 104100735 104100735 G A rs201498539 STAB2 Nonsynonymous SNV E1388K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.37 165440 chr11 66627138 66627138 G A LRFN4 Synonymous SNV L460L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.017 165441 chr12 49312536 49312536 T C CCDC65 Synonymous SNV Y149Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.179 165442 chr12 104373813 104373813 T C rs766271211 TDG Nonsynonymous SNV L124P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.2 165443 chr1 38042043 38042043 C A rs141806224 GNL2 Nonsynonymous SNV A159S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 34 165444 chr12 49424181 49424181 G A rs757351847 KMT2D Synonymous SNV P4627P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.093 165445 chr2 233410292 233410292 C T rs199767964 CHRNG Nonsynonymous SNV R474C 0.005 0 0 0 6 0 0 0 0 0 0 0 35 165446 chr12 49742695 49742695 G A DNAJC22 Nonsynonymous SNV V14M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.73 165447 chr11 68029140 68029140 G A rs141439527 C11orf24 Synonymous SNV N441N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.533 165448 chrX 49062184 49062184 G A rs782234292 CACNA1F Synonymous SNV L1854L 0.003 0 0 3 3 0 0.008 0 1 0 0 1 11.09 165449 chr12 51384646 51384646 C T SLC11A2 Nonsynonymous SNV G499R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 165450 chr1 10699168 10699173 TCGTCG - rs766719892 CASZ1 D1702_D1703del 0 0 0.003 0 0 0 0 1 0 0 0 0 165451 chr1 1078312 1078312 C T rs574820350 LINC01342 0 0 0.01 0 0 0 0 3 0 0 0 0 1.27 165452 chr2 239005470 239005470 G A rs375566846 SCLY Synonymous SNV V379V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.015 165453 chr12 111892921 111892921 G A rs537349735 ATXN2 Synonymous SNV C984C 0.003 0 0 0 4 0 0 0 0 0 0 0 17.46 165454 chrX 65428056 65428056 C G rs185185997 HEPH Nonsynonymous SNV S655C 0.001 0 0 3 1 0 0.008 0 0 0 0 1 22.9 165455 chr3 48451094 48451094 T C rs758527514 PLXNB1 Nonsynonymous SNV S1942G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.56 165456 chr12 112601517 112601517 C T rs61748839 HECTD4 Synonymous SNV A4252A 0.007 0 0 0 8 0 0 0 0 0 0 0 16.14 165457 chr3 48665454 48665454 G A rs199596871 SLC26A6 Synonymous SNV G499G 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 8.999 165458 chr11 71260065 71260121 GTGGGTCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCCTCAGGCT - KRTAP5-9 S137_S155del 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 165459 chr2 239170960 239170960 G A rs115692307 PER2 Synonymous SNV F393F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 8.637 165460 chr16 842227 842227 C T CHTF18 Synonymous SNV D402D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 165461 chr11 725751 725751 G C rs184903112 EPS8L2 Nonsynonymous SNV W528C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 165462 chr1 11017760 11017760 G A rs770877171 C1orf127 Synonymous SNV D63D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 165463 chr1 110282482 110282482 C T rs150988571 GSTM3 Nonsynonymous SNV E33K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 165464 chr2 241808421 241808421 G A rs180177173 AGXT Nonsynonymous SNV G47R 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 24 165465 chr12 120213605 120213605 T G rs754514332 CIT Nonsynonymous SNV Q642H 0.004 0 0 0 5 0 0 0 0 0 0 0 25.5 165466 chr1 11150721 11150721 G C rs144136055 EXOSC10 Synonymous SNV L216L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.059 165467 chr2 101622522 101622522 C A rs148028338 RPL31 Nonsynonymous SNV T112N 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 33 165468 chr1 914644 914644 C T PERM1 Nonsynonymous SNV C589Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 165469 chr1 1139414 1139414 C T TNFRSF18 Nonsynonymous SNV E201K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.952 165470 chr11 775136 775136 G A rs139608981 GATD1 Nonsynonymous SNV S24L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 165471 chr3 53260819 53260819 C T rs368723545 TKT Nonsynonymous SNV R550H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 165472 chr12 122812884 122812884 G C CLIP1 Nonsynonymous SNV A940G 0.003 0 0 0 4 0 0 0 0 0 0 0 26.2 165473 chr1 117564491 117564491 G A rs200228819 CD101 Nonsynonymous SNV D772N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.9 165474 chr1 117618467 117618467 C T rs17036836 TTF2 Synonymous SNV L421L 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 Benign 9.029 165475 chr12 56031068 56031068 A G rs145537321 OR10P1 Synonymous SNV L131L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.067 165476 chr12 56216185 56216185 G A rs755633581 DNAJC14 Nonsynonymous SNV R624W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 165477 chr12 56536716 56536716 C T rs748196069 ESYT1 Nonsynonymous SNV R1006W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 165478 chr12 56742835 56742835 C T rs367592048 STAT2 Synonymous SNV Q483Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 165479 chr12 124345637 124345637 A G DNAH10 Synonymous SNV P2158P 0.003 0 0 0 4 0 0 0 0 0 0 0 5.84 165480 chr1 118477231 118477231 T C rs772910692 WDR3 Nonsynonymous SNV F103L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 165481 chr16 88873608 88873608 G A rs376775084 CDT1 Synonymous SNV E424E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.15 165482 chr1 11894056 11894056 T C rs148630210 CLCN6 Nonsynonymous SNV F477L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 165483 chr1 12423142 12423142 C T rs375496783 VPS13D Synonymous SNV P3404P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 165484 chr1 3643711 3643711 C T rs367549083 TP73 Synonymous SNV N206N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 165485 chr1 1271619 1271619 C T rs776073474 DVL1 Nonsynonymous SNV R664Q 0 0 0.007 0 0 0 0 2 0 0 0 0 25 165486 chr12 58166590 58166590 C T rs34913183 EEF1AKMT3 Nonsynonymous SNV S28L 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 22.9 165487 chr1 12836226 12836226 C T rs770670982 PRAMEF12 Synonymous SNV V276V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.65 165488 chr3 14756874 14756874 C T C3orf20 Synonymous SNV S342S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.31 165489 chr2 131673532 131673532 C A rs143866061 ARHGEF4 Synonymous SNV G671G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.508 165490 chr12 64854006 64854006 A G rs748061846 TBK1 Nonsynonymous SNV N42S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.547 165491 chr2 131674514 131674514 G C rs142228684 ARHGEF4 Nonsynonymous SNV V999L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.249 165492 chr3 19940991 19940991 A G rs764878051 EFHB Nonsynonymous SNV F479L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.086 165493 chr17 10446451 10446451 T C rs761653072 MYH2 Nonsynonymous SNV T257A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.3 165494 chr3 24231686 24231686 C T rs79220627 THRB Synonymous SNV S23S 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 10.52 165495 chr1 149858144 149858144 T C HIST2H2BE Nonsynonymous SNV K16R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 165496 chr12 14827559 14827559 C T GUCY2C Nonsynonymous SNV G362R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 165497 chr1 77987594 77987594 G A rs2803140 AK5 Nonsynonymous SNV R439Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 165498 chr12 15813630 15813630 T G rs71532817 EPS8 Synonymous SNV T285T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.851 165499 chr1 78194122 78194122 A G rs138551406 USP33 Synonymous SNV D331D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.357 165500 chr1 78426063 78426063 G A rs1041241847 FUBP1 Nonsynonymous SNV P488S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 165501 chr3 38044755 38044755 C A rs199698879 VILL Nonsynonymous SNV H383N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.147 165502 chr11 993307 993307 C T rs373961196 AP2A2 Synonymous SNV H493H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.14 165503 chr1 151254306 151254306 T C ZNF687-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.22 165504 chr12 2062204 2062204 C G rs2470449 DCP1B Nonsynonymous SNV S301T 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 12.61 165505 chr2 160076262 160076262 A G rs201218896 TANC1 Nonsynonymous SNV K987E 0 0.003 0.01 0 0 1 0 3 0 0 0 0 32 165506 chr12 101776959 101776959 G A rs138484923 UTP20 Synonymous SNV A2599A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 11.21 165507 chr12 101777351 101777351 G A rs147838898 UTP20 Nonsynonymous SNV V2654I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.018 165508 chr12 104160076 104160076 C T rs149173381 STAB2 Nonsynonymous SNV R2540W 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 165509 chr1 154031134 154031134 C A rs201928881 NUP210L Nonsynonymous SNV E962D 0 0 0.003 0 0 0 0 1 0 0 0 0 23 165510 chr12 3104142 3104142 C G rs148965461 TEAD4 Nonsynonymous SNV D70E 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.6 165511 chr2 169764148 169764148 G A rs2232324 G6PC2 Synonymous SNV K209K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.347 165512 chr1 155252536 155252536 C T rs771587960 HCN3 Nonsynonymous SNV R205W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 165513 chr2 170026231 170026231 C T rs150464677 LRP2 Synonymous SNV A3826A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.45 165514 chr1 156261334 156261334 A T rs772948240 TMEM79 Nonsynonymous SNV D377V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 165515 chr2 171508172 171508172 A T MYO3B Synonymous SNV T1229T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 165516 chr2 177034116 177034116 C T rs772366990 HOXD3 Nonsynonymous SNV R92W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 165517 chr1 19505547 19505547 G C UBR4 Nonsynonymous SNV D784E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.39 165518 chr12 111885879 111885879 C T rs529644866 SH2B3 Nonsynonymous SNV L299F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 165519 chr1 19584424 19584424 C T rs760511737 MRTO4 Nonsynonymous SNV H147Y 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 165520 chr3 126733121 126733121 G A rs374673201 PLXNA1 Nonsynonymous SNV R836H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 165521 chr1 20975372 20975372 A G PINK1-AS 0.003 0 0 0 3 0 0 0 0 0 0 0 6.365 165522 chr1 160209896 160209901 TCCTCT - rs745776382 DCAF8 E111_E112del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 165523 chr12 113435353 113435353 C T rs140260803 OAS2 Nonsynonymous SNV S219L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 165524 chr2 179473074 179473074 G C rs199615557 TTN Nonsynonymous SNV N8447K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.858 165525 chr17 27945923 27945923 A G rs766081044 CORO6 Nonsynonymous SNV M173T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.28 165526 chr12 113446904 113446904 G A OAS2 Synonymous SNV L636L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 165527 chr3 130104088 130104088 C T rs201277707 COL6A5 Nonsynonymous SNV A581V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.8 165528 chr1 113068651 113068651 C T rs12069022 ST7L Nonsynonymous SNV G388D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 23.9 165529 chr1 113202386 113202386 C T rs12074157 CAPZA1 Synonymous SNV G190G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 19.54 165530 chr1 113238787 113238787 C T rs35535483 MOV10 Synonymous SNV D599D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 17.11 165531 chr12 113629373 113629373 G T RITA1 Synonymous SNV G211G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.666 165532 chr1 114193690 114193690 C T rs372270961 MAGI3 Nonsynonymous SNV R768C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 165533 chr12 50745857 50745857 T G rs12297653 FAM186A Nonsynonymous SNV E1586D 0.005 0.005 0.017 0 6 2 0 5 0 0 0 0 0.001 165534 chr12 50745858 50745858 T G rs374020295 FAM186A Nonsynonymous SNV E1586A 0.005 0.005 0.017 0 6 2 0 5 0 0 0 0 0.001 165535 chr3 131261588 131261588 G A CPNE4 Nonsynonymous SNV A469V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 165536 chr1 114454598 114454598 G A rs28381079 DCLRE1B Nonsynonymous SNV D336N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 10.13 165537 chr1 114646293 114646293 A T rs34039948 SYT6 Synonymous SNV T374T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.224 165538 chr17 31203862 31203862 C A MYO1D Nonsynonymous SNV G10V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 165539 chr12 50748940 50748940 G A rs149132556 FAM186A Nonsynonymous SNV R559C 0.003 0 0 0 4 0 0 0 0 0 0 0 18.7 165540 chr17 3181331 3181331 C T OR3A2 Nonsynonymous SNV S300N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 165541 chr12 51252750 51252750 C T TMPRSS12 Nonsynonymous SNV P189L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.2 165542 chr12 51512516 51512516 C T rs138916160 TFCP2 Synonymous SNV S54S 0.003 0 0 0 4 0 0 0 0 0 0 0 18.81 165543 chr3 136141425 136141425 A T rs754373019 STAG1 Nonsynonymous SNV F622I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.9 165544 chr1 118727780 118727780 T G rs752173832 SPAG17 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 165545 chr13 20224221 20224221 G A rs532851739 MPHOSPH8 Nonsynonymous SNV R466Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 165546 chr3 58553092 58553093 CT - FAM107A 0.002 0 0 0 2 0 0 0 0 0 0 0 165547 chr17 36708707 36708707 G A rs547540147 SRCIN1 Nonsynonymous SNV T819M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 165548 chr17 37438986 37438986 G A rs532621624 FBXL20 Nonsynonymous SNV T174M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 165549 chr12 53515184 53515184 G A rs150347676 SOAT2 Nonsynonymous SNV R412Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.72 165550 chr17 37865629 37865629 G A rs370810322 ERBB2 Synonymous SNV T166T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.33 165551 chr11 788486 788486 C T rs149620345 CEND1 Nonsynonymous SNV D31N 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 24.8 165552 chr1 174219724 174219724 A G rs7339904 RABGAP1L Nonsynonymous SNV S240G 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 15.07 165553 chr3 155200573 155200573 T C rs745812454 PLCH1 Nonsynonymous SNV H1081R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 165554 chr1 174973777 174973777 G T rs139819219 CACYBP Nonsynonymous SNV V15L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 165555 chr12 53822794 53822794 G C AMHR2 Nonsynonymous SNV G323R 0.003 0 0 0 3 0 0 0 0 0 0 0 28.7 165556 chr1 175375515 175375515 G A rs34371480 TNR Synonymous SNV V112V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.651 165557 chr11 82895682 82895682 G A rs201028738 LOC100506282 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.007 165558 chr1 177242629 177242629 C T rs976932 BRINP2 Synonymous SNV T225T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.32 165559 chr1 177250268 177250268 C A rs143029054 BRINP2 Synonymous SNV S652S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.767 165560 chr1 17743081 17743081 T C rs145717687 RCC2 Synonymous SNV L307L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.084 165561 chr1 31349771 31349771 A G rs757871664 SDC3 Synonymous SNV T166T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 165562 chr1 32049076 32049076 A G TINAGL1 Nonsynonymous SNV N130S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 165563 chr1 32800320 32800320 C T rs147920887 MARCKSL1 Nonsynonymous SNV A156T 0.004 0 0 0 5 0 0 0 0 0 0 0 22.2 165564 chr13 36026352 36026352 A G rs371955738 NBEA Nonsynonymous SNV K2143R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 165565 chr12 56716948 56716948 A C rs34404784 PAN2 Nonsynonymous SNV I801M 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 0.569 165566 chr12 57008863 57008863 - TCA BAZ2A M221_T222insM 0.003 0 0 1 3 0 0.003 0 0 0 0 0 165567 chr12 57498957 57498957 C A rs201896319 STAT6 Synonymous SNV V216V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.05 165568 chr1 18023575 18023575 C T rs138492452 ARHGEF10L Synonymous SNV T883T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.16 165569 chr12 57538812 57538812 G A rs201406588 LRP1 Nonsynonymous SNV G169D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.9 165570 chr2 209324668 209324668 G A rs61741765 PTH2R Synonymous SNV P210P 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 Benign 13.59 165571 chr2 209436805 209436805 A C rs377227504 LOC101927960 0 0.005 0.007 0 0 2 0 2 0 0 0 0 1.417 165572 chr1 36056316 36056316 G A rs750269999 TFAP2E Nonsynonymous SNV C329Y 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 165573 chr1 36235452 36235452 G A rs151142512 CLSPN Nonsynonymous SNV S7F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 165574 chr12 57850029 57850029 C T rs145766269 INHBE Nonsynonymous SNV R151C 0.004 0 0 0 5 0 0 0 0 0 0 0 13.84 165575 chr1 36887811 36887811 C T rs566372754 OSCP1 Synonymous SNV V253V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 13.78 165576 chr2 211082773 211082773 T G rs200233656 ACADL Nonsynonymous SNV Q96P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 165577 chr2 214012441 214012441 T C IKZF2 Nonsynonymous SNV M44V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.486 165578 chr1 38200974 38200974 G T rs746358714 EPHA10 Synonymous SNV A482A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.86 165579 chr1 38265685 38265685 G A MANEAL Nonsynonymous SNV R173K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.7 165580 chr3 183948569 183948569 - GTGTCCGGCTTCGAGGCCGAGGCC VWA5B2 A66_A67insVSGFEAEA 0 0 0 2 0 0 0.005 0 0 0 0 0 165581 chr12 62946940 62946940 A T MON2 Nonsynonymous SNV T1066S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.532 165582 chr1 184020956 184020956 G C rs756147466 TSEN15 Nonsynonymous SNV G23R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 165583 chr3 118906703 118906703 G A rs768105329 UPK1B Nonsynonymous SNV D51N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.064 165584 chr2 219128006 219128006 C T rs200183179 GPBAR1 Nonsynonymous SNV R187C 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 17.71 165585 chr1 1860284 1860284 G A CFAP74 Nonsynonymous SNV P1109L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.3 165586 chr1 156906672 156906672 G A rs368042960 ARHGEF11 Synonymous SNV P1482P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.354 165587 chr1 42048300 42048300 G A rs201664303 HIVEP3 Synonymous SNV D723D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.847 165588 chr2 219893011 219893011 G A rs751168818 CFAP65 Nonsynonymous SNV T523M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26 165589 chr2 220034563 220034563 G A rs184947518 SLC23A3 Synonymous SNV S48S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.999 165590 chr2 220083184 220083184 G A rs748943598 ABCB6 Nonsynonymous SNV S71F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.141 165591 chr13 77699481 77699481 T A MYCBP2 Synonymous SNV R2669R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.18 165592 chr1 43850717 43850717 C T rs111240422 MED8 Nonsynonymous SNV R179Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 35 165593 chr3 194062894 194062894 G C rs772293956 CPN2 Nonsynonymous SNV L180V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.274 165594 chr1 159283912 159283914 AGA - rs769887421 OR10J3 F179del 0.002 0 0 0 2 0 0 0 0 0 0 0 165595 chr3 195792376 195792376 T C rs539830157 TFRC Nonsynonymous SNV N97S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 165596 chr1 47653053 47653053 G A rs779800928 PDZK1IP1 Synonymous SNV A38A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.55 165597 chr12 48095368 48095368 T C rs761948776 RPAP3 Nonsynonymous SNV N58S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 165598 chr1 204095142 204095142 G T rs768627704 SOX13 Nonsynonymous SNV E583D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 165599 chr2 228194500 228194500 - GTGAGCAGGGCAGCATT rs769691094 MFF 0 0.008 0 0 0 3 0 0 0 0 0 0 165600 chr12 112481445 112481445 A G rs773221841 NAA25 Nonsynonymous SNV I745T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.82 165601 chr12 112667653 112667653 T A HECTD4 Nonsynonymous SNV Q2133L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 165602 chr3 130737548 130737548 T G rs375067832 ASTE1 Synonymous SNV R439R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 165603 chr12 113600805 113600805 A G rs146097905 DDX54 Synonymous SNV A709A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 3.79 165604 chr4 3076665 3076665 - GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCGCC HTT Q38_P39insQQQQQQQQQQQQQPPPP 0 0 0 1 0 0 0.003 0 0 0 0 0 165605 chr4 3188417 3188417 C T rs201149918 HTT Nonsynonymous SNV R1654W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 35 165606 chr17 48447427 48447427 G T rs143654128 MRPL27 Nonsynonymous SNV T69K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 165607 chr12 51072576 51072576 A G DIP2B Nonsynonymous SNV Q344R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 165608 chr1 60521031 60521031 T C rs146737912 C1orf87 Nonsynonymous SNV R63G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.72 165609 chr2 235951846 235951846 C T rs139681121 SH3BP4 Synonymous SNV N811N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.778 165610 chr1 212521834 212521834 G A rs745804683 PPP2R5A Nonsynonymous SNV A233T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 165611 chr1 62579786 62579786 C T rs202201082 PATJ Nonsynonymous SNV T1508I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 165612 chr1 21299534 21299534 C T rs759935360 EIF4G3 Synonymous SNV T128T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 165613 chr2 238736077 238736077 C A rs199634505 RBM44 Nonsynonymous SNV A845D 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 27.7 165614 chr1 21571570 21571570 T C rs145301395 ECE1 Nonsynonymous SNV N385S 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 17.27 165615 chr17 54588235 54588235 C T ANKFN1 Nonsynonymous SNV R948C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 165616 chr1 220275500 220275500 A G rs745600952 IARS2 Nonsynonymous SNV K194E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.63 165617 chr4 8376867 8376867 G A rs140873000 ACOX3 Nonsynonymous SNV R556C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 32 165618 chr4 8477600 8477600 A C rs777744376 TRMT44 Nonsynonymous SNV T475P 0 0 0 2 0 0 0.005 0 0 0 0 0 27.4 165619 chr17 56599320 56599320 G T rs773611108 SEPTIN4 Nonsynonymous SNV P250T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.061 165620 chr1 184853861 184853861 G - rs767981494 NIBAN1 F170Sfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 165621 chr12 124796452 124796452 C T rs765665513 RFLNA, ZNF664-RFLNA Nonsynonymous SNV P99L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 165622 chr1 74941373 74941373 A G rs144258020 LRRC53 Synonymous SNV A342A 0.006 0 0.003 0 7 0 0 1 0 0 0 0 6.94 165623 chr3 159706972 159706972 A G IL12A-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 8.054 165624 chr2 241991198 241991198 C T rs138612536 SNED1 Synonymous SNV N591N 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 14.97 165625 chr14 23600691 23600691 T C rs767062087 SLC7A8 Synonymous SNV P140P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.088 165626 chr4 13545804 13545804 T A rs200167000 NKX3-2 Nonsynonymous SNV T79S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.009 165627 chr4 15005560 15005560 C T rs575161447 CPEB2 Synonymous SNV G421G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.193 165628 chr13 19753656 19753656 G A rs747717029 TUBA3C Synonymous SNV G17G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.462 165629 chr2 242204015 242204015 T C rs144379709 HDLBP Nonsynonymous SNV T28A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 6.006 165630 chr14 24528498 24528498 T C CARMIL3 Nonsynonymous SNV V549A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 165631 chr4 16077447 16077447 G T rs200267954 PROM1 Nonsynonymous SNV A28D 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Uncertain significance 1.779 165632 chr2 242814375 242814375 C - rs35989328 RTP5 P225Lfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 165633 chr1 201047079 201047079 G A rs140662085 CACNA1S Nonsynonymous SNV S516L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.49 165634 chr13 24797485 24797485 T G rs534848376 SPATA13 Nonsynonymous SNV S140A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.052 165635 chr3 4859890 4859890 T C rs201894676 ITPR1 Synonymous SNV Y2601Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.026 165636 chr12 56217264 56217264 C T rs779241064 DNAJC14 Nonsynonymous SNV R479Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 165637 chr3 9879748 9879748 G C RPUSD3 Synonymous SNV P321P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.864 165638 chr4 39463894 39463894 T C rs144299903 LIAS Synonymous SNV N99N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 8.515 165639 chr12 57004211 57004211 T C rs779465324 BAZ2A Synonymous SNV Q587Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.15 165640 chr17 6690621 6690621 G A FBXO39 Synonymous SNV A401A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.54 165641 chr1 228566395 228566395 C T rs776493540 OBSCN Nonsynonymous SNV P7936S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 165642 chr1 22903087 22903087 C T EPHA8 Synonymous SNV R179R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 165643 chr1 229461083 229461083 C G rs150524317 CCSAP Nonsynonymous SNV A238P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 24.8 165644 chr1 94528774 94528774 C T rs145525174 ABCA4 Nonsynonymous SNV V552I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.19 165645 chr13 32913055 32913055 A C rs206075 BRCA2 Synonymous SNV L1521L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.005 165646 chr1 231320877 231320877 C G rs757909694 LOC149373 Nonsynonymous SNV L85F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.657 165647 chr12 19436506 19436506 A G rs370267036 PLEKHA5 Nonsynonymous SNV M422V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 165648 chr4 48158733 48158733 C G rs1039698473 TEC Nonsynonymous SNV M252I 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 2.12 165649 chr17 7128130 7128130 C T rs374729641 ACADVL Nonsynonymous SNV A563V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 31 165650 chr12 6438518 6438518 C A rs201062001 TNFRSF1A Nonsynonymous SNV G335V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.6 165651 chr3 27463217 27463217 G C SLC4A7 Synonymous SNV V312V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.111 165652 chr13 46721078 46721078 G C rs779503958 LCP1 Nonsynonymous SNV P380R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 165653 chr1 212274213 212274213 G A rs149056494 DTL Synonymous SNV P356P 0.003 0 0 4 4 0 0.01 0 0 0 0 0 1.102 165654 chr14 58598373 58598373 G A rs144281427 ARMH4 Nonsynonymous SNV P563L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.88 165655 chr17 72832403 72832403 C T TMEM104 Synonymous SNV F356F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 165656 chr1 24080605 24080605 A G rs753715107 ELOA Nonsynonymous SNV Q544R 0 0 0.003 0 0 0 0 1 0 0 0 0 12 165657 chr4 438189 438189 G A rs147101943 ZNF721 Nonsynonymous SNV P23S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.351 165658 chr4 947005 947005 T G rs766495821 TMEM175 Nonsynonymous SNV F82V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.6 165659 chr1 216243634 216243634 G C rs41302239 USH2A Nonsynonymous SNV A1953G 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 165660 chr1 113242346 113242346 G A rs772354886 MOV10 Nonsynonymous SNV V875I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 165661 chr4 74459251 74459251 T A RASSF6 Synonymous SNV R56R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.842 165662 chr12 76425213 76425213 G T PHLDA1 Synonymous SNV G103G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.84 165663 chr1 2451846 2451846 G A rs140249467 PANK4 Nonsynonymous SNV T205M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 165664 chr1 116202263 116202263 G A rs61734296 VANGL1 Nonsynonymous SNV E25K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 165665 chr12 4736547 4736547 T C rs147621340 AKAP3 Synonymous SNV P507P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 165666 chr12 4791463 4791463 A G rs61754988 NDUFA9 Nonsynonymous SNV Y298C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.2 165667 chr1 224621770 224621772 CCA - WDR26 G25del 0.003 0 0 0 3 0 0 0 0 0 0 0 165668 chr4 79461929 79461929 C T rs373595232 FRAS1 Nonsynonymous SNV A3897V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Uncertain significance 24.3 165669 chr1 120436639 120436665 TTTGCTTTAGATTCTTCCTGTCCAGTT - rs769865375 ADAM30 K765_A773del 0.002 0 0 0 2 0 0 0 0 0 0 0 165670 chr14 70245086 70245086 T C rs199949242 SLC10A1 Nonsynonymous SNV I303V 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 0.021 165671 chr14 103187372 103187372 C T rs142219804 RCOR1 Nonsynonymous SNV A361V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.9 165672 chr3 45518109 45518109 C T rs142803778 LARS2 Synonymous SNV V336V 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Likely benign 18.27 165673 chr12 49425640 49425640 G A rs768584961 KMT2D Nonsynonymous SNV P4283L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.98 165674 chr12 49497472 49497472 T C rs770218401 LMBR1L Star tloss Y129C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.3 165675 chr1 149878435 149878435 G T rs376230404 SV2A Nonsynonymous SNV A3D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.743 165676 chr4 4304599 4304599 G A rs112865618 ZBTB49 Nonsynonymous SNV E346K 0.002 0 0 0 2 0 0 0 0 0 0 0 21 165677 chr4 4322665 4322665 T C rs35507373 ZBTB49 Synonymous SNV S640S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.012 165678 chr4 4322770 4322770 T C rs73793210 ZBTB49 Synonymous SNV G675G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.389 165679 chr4 4411362 4411362 C T rs35928711 NSG1 Synonymous SNV Y103Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.39 165680 chr3 46621330 46621330 G C rs148619685 TDGF1 Nonsynonymous SNV D93H 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Likely benign 22.4 165681 chr17 7646343 7646343 G A rs752231674 DNAH2 Nonsynonymous SNV R596Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 165682 chr3 46718473 46718473 C A rs773948013 ALS2CL Nonsynonymous SNV W599C 0 0.005 0 0 0 2 0 0 0 0 0 0 32 165683 chr14 105350674 105350674 G A rs780048597 CEP170B Nonsynonymous SNV E450K 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 22.8 165684 chr14 76620980 76620980 A G rs149688470 GPATCH2L Nonsynonymous SNV M92V 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.094 165685 chr1 24927465 24927465 T G rs772469044 NCMAP Synonymous SNV V39V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.845 165686 chr17 7750463 7750463 C T rs746684469 KDM6B Nonsynonymous SNV A317V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.48 165687 chr17 78064012 78064012 G A CCDC40 Synonymous SNV T969T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.989 165688 chr17 78064141 78064141 A G rs755268290 CCDC40 Synonymous SNV R1012R 0 0.005 0 0 0 2 0 0 0 1 0 0 1.452 165689 chr14 78398015 78398015 T G ADCK1 Nonsynonymous SNV F349C 0.003 0 0 0 4 0 0 0 0 0 0 0 32 165690 chr1 27660696 27660696 A T TMEM222 Nonsynonymous SNV M155L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 165691 chr1 27876608 27876608 G A rs756739229 AHDC1 Synonymous SNV G673G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.523 165692 chr4 113475048 113475048 A G rs141688719 ZGRF1 Synonymous SNV Y1705Y 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.794 165693 chr4 114823689 114823689 C T rs775562027 ARSJ Nonsynonymous SNV G514E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.09 165694 chr1 29581909 29581909 C T PTPRU Synonymous SNV L66L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 165695 chr1 31187121 31187121 C T rs770761422 MATN1 Nonsynonymous SNV G472R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 165696 chr14 90455299 90455299 C T rs780723266 TDP1 Synonymous SNV V394V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 165697 chr1 31973070 31973070 C G rs567302985 LDC1P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.04 165698 chr1 32089178 32089178 C A rs41501244 HCRTR1 Nonsynonymous SNV L265M 0.003 0 0.014 0 3 0 0 4 0 0 0 0 13.58 165699 chr1 32120944 32120944 G A rs201772427 COL16A1 Nonsynonymous SNV P1421S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 21.3 165700 chr1 32120948 32120956 CCCCGAAGG - rs758284097 COL16A1 P1417_G1419del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 165701 chr3 54933872 54933872 A G rs41277457 CACNA2D3 Nonsynonymous SNV E809G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 21.9 165702 chr3 54958683 54958683 G A rs201955269 LRTM1 Synonymous SNV L113L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.509 165703 chr1 156039980 156039980 C G rs199691333 RAB25 Nonsynonymous SNV Q182E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.42 165704 chr13 113741770 113741770 C T rs150786675 MCF2L Synonymous SNV N827N 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Likely benign 0.091 165705 chr1 33160943 33160943 T A SYNC Nonsynonymous SNV E252D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 165706 chr12 53579204 53579204 C T rs187594342 ZNF740 Nonsynonymous SNV R65C 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 34 165707 chr3 58097526 58097526 C T rs145952210 FLNB Synonymous SNV P831P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 17.93 165708 chr14 95053874 95053874 G A rs139961453 SERPINA5 Nonsynonymous SNV A59T 0.003 0 0 0 3 0 0 0 0 0 0 0 3.28 165709 chr17 79918735 79918735 G A rs564753527 NOTUM Synonymous SNV A17A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 165710 chr14 23312518 23312518 C T rs150962356 MMP14 Synonymous SNV L247L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.79 165711 chr4 153562095 153562095 G A rs150795516 TMEM154 Nonsynonymous SNV S174L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 21.7 165712 chr3 100016789 100016789 G C rs148623930 TBC1D23 Nonsynonymous SNV S300T 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 22.6 165713 chr1 40697287 40697287 C T rs557228847 RLF Nonsynonymous SNV T349M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 165714 chr1 41514432 41514432 G A rs151194966 SCMH1 Synonymous SNV I244I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 165715 chr4 57796639 57796639 T C rs61748754 REST Nonsynonymous SNV S539P 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 0.016 165716 chr13 31843415 31843415 G A rs80338851 B3GLCT 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Pathogenic 28.4 165717 chr12 64472711 64472711 A T rs375642946 SRGAP1 Nonsynonymous SNV T380S 0.007 0.005 0 0 8 2 0 0 0 0 0 0 11.95 165718 chr1 42938877 42938877 T C rs947341113 PPCS Synonymous SNV L233L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.705 165719 chr1 43772545 43772545 C T rs142521057 TIE1 Synonymous SNV A128A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 165720 chr3 113082345 113082345 A G rs765106804 CFAP44 Nonsynonymous SNV I917T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.4 165721 chr1 161168056 161168056 C T rs761692913 ADAMTS4 Nonsynonymous SNV G121E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 165722 chr4 74442398 74442398 G A rs146894207 RASSF6 Stop gain Q224X 0.006 0.005 0 0 7 2 0 0 0 0 0 0 37 165723 chr4 74735460 74735460 A C CXCL1 Nonsynonymous SNV S59R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 165724 chr12 6883870 6883870 C T rs758807510 LAG3 Synonymous SNV G207G 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 8.931 165725 chr18 23618525 23618525 G A SS18 Nonsynonymous SNV P292S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 165726 chr13 49842093 49842093 C T rs369638344 CDADC1 Nonsynonymous SNV R300C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 165727 chr15 41768663 41768663 G A rs201667884 RTF1 Nonsynonymous SNV R501K 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 165728 chr1 53662657 53662657 C T rs570576290 CPT2 Synonymous SNV P14P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.11 165729 chr12 78516051 78516051 C T rs371058094 NAV3 Nonsynonymous SNV P1361S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 165730 chr2 16080769 16080769 G T rs569527205 MYCN Nonsynonymous SNV A21S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 15.68 165731 chr15 42342869 42342869 G A rs973575147 PLA2G4E Synonymous SNV G11G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.647 165732 chr18 34298397 34298397 C T FHOD3 Nonsynonymous SNV P854S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 165733 chr1 55253716 55253716 T C rs772174065 TTC22 Nonsynonymous SNV R208G 0 0 0.01 0 0 0 0 3 0 0 0 0 28.8 165734 chr1 59041858 59041858 T C rs778769367 TACSTD2 X324W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 165735 chr1 175372551 175372551 C T rs201187422 TNR Nonsynonymous SNV R234Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 165736 chr14 61275073 61275075 ACA - rs762221374 MNAT1 N117del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 165737 chr14 62204952 62204952 C G HIF1A Nonsynonymous SNV A490G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22 165738 chr15 45465775 45465775 G A rs929321404 SHF Synonymous SNV S264S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.57 165739 chr1 62257043 62257043 T C rs200802733 PATJ Synonymous SNV Y364Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 165740 chr1 6293652 6293652 T C ICMT Synonymous SNV A112A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 165741 chr5 5146365 5146365 C T rs199987714 ADAMTS16 Nonsynonymous SNV R100W 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 30 165742 chr14 100801269 100801269 C T rs759722365 WARS1 Synonymous SNV T412T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.91 165743 chr1 63294728 63294728 A C ATG4C Nonsynonymous SNV I272L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 165744 chr14 101347786 101347786 G A rs143429892 RTL1 Nonsynonymous SNV R1114W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 23.2 165745 chr18 55983245 55983245 T C NEDD4L Nonsynonymous SNV V110A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 165746 chr1 65157120 65157120 C G rs72673394 CACHD1 Nonsynonymous SNV P938R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.4 165747 chr4 106859475 106859475 A G rs751397823 NPNT Nonsynonymous SNV M135V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 165748 chr15 55622010 55622010 C T PIGB Nonsynonymous SNV A204V 0.003 0 0 0 4 0 0 0 0 0 0 0 29.8 165749 chr1 183532436 183532436 C T rs145229115 NCF2 Nonsynonymous SNV R314Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 165750 chr1 185976348 185976348 C T rs143641249 HMCN1 Nonsynonymous SNV R1522C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 165751 chr1 70504368 70504368 C T rs764421124 LRRC7 Nonsynonymous SNV P955L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 165752 chr1 75108727 75108727 C T rs148337951 ERICH3 Nonsynonymous SNV R100Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.8 165753 chr13 101763566 101763566 C T rs145128255 NALCN Nonsynonymous SNV R706Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 165754 chr1 201177475 201177475 G A rs200449160 IGFN1 Nonsynonymous SNV G1152R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 165755 chr13 110827599 110827599 G A rs375787099 COL4A1 Nonsynonymous SNV P1055L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 165756 chr15 72190417 72190417 G C rs16956375 MYO9A Nonsynonymous SNV P1476R 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Benign 0.439 165757 chr13 113465039 113465042 GAGT - ATP11A V148Wfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 165758 chr1 902088 902088 G A rs201730138 PLEKHN1 Nonsynonymous SNV D30N 0 0 0.007 0 0 0 0 2 0 0 0 0 12.01 165759 chr4 152570928 152570928 T C FAM160A1 Nonsynonymous SNV W579R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 165760 chr5 65364775 65364775 A T rs868509314 ERBIN Nonsynonymous SNV D1235V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 165761 chr3 172229416 172229416 T C TNFSF10 Nonsynonymous SNV T102A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.847 165762 chr5 71493384 71493384 C T rs371181351 MAP1B Nonsynonymous SNV P1275L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 165763 chr1 94473801 94473801 C T rs758431657 ABCA4 Nonsynonymous SNV R1963H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 165764 chr14 94914812 94914812 C T SERPINA11 Synonymous SNV L100L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.77 165765 chr14 23995275 23995275 T C rs1051627112 ZFHX2 Synonymous SNV Q1292Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 165766 chr14 23998935 23998935 C T rs776557447 ZFHX2 Nonsynonymous SNV S973N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.22 165767 chr1 208219289 208219289 C A rs373911029 PLXNA2 Synonymous SNV P1143P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 165768 chr5 73090249 73090249 C T rs536597186 ARHGEF28 Synonymous SNV S311S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.587 165769 chr14 24542158 24542158 G A CPNE6 Nonsynonymous SNV E5K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.44 165770 chr1 95709965 95709965 T G rs762360449 RWDD3 Nonsynonymous SNV L95W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 165771 chr1 9776114 9776114 A T PIK3CD Nonsynonymous SNV N193I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 165772 chr14 24761466 24761466 G A rs200961410 DHRS1 Nonsynonymous SNV P193L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 165773 chr19 10657771 10657771 G A rs757470389 ATG4D Synonymous SNV S187S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 12.26 165774 chr15 83316612 83316612 G A rs372164501 CPEB1 Nonsynonymous SNV P4S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 165775 chr15 101109904 101109904 T C rs141855950 LINS1 Nonsynonymous SNV M605V 0.006 0.018 0 0 7 7 0 0 1 0 0 0 Benign/Likely benign 0.015 165776 chr4 169343043 169343043 C A DDX60L Synonymous SNV V754V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.5 165777 chr20 1592043 1592044 CA - rs369003673 SIRPB1 V131Gfs*3 0.015 0.021 0.007 4 18 8 0.01 2 9 4 1 2 165778 chr4 175414327 175414327 T C rs370867205 HPGD Nonsynonymous SNV M145V 0.004 0 0 0 5 0 0 0 0 0 0 0 7.544 165779 chr15 86262432 86262432 G A rs200241302 AKAP13 Nonsynonymous SNV D664N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 165780 chr20 18429707 18429707 - G rs773000773 DZANK1 Frameshift insertion G11Rfs*88 0 0 0.003 0 0 0 0 1 0 0 0 0 165781 chr15 34016315 34016315 G A rs201633381 RYR3 Nonsynonymous SNV A2284T 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Uncertain significance 27.9 165782 chr5 80724464 80724464 G T rs149755720 SSBP2 Synonymous SNV G312G 0 0.008 0.003 2 0 3 0.005 1 0 0 0 0 10.36 165783 chr3 194062684 194062684 G A rs144821969 CPN2 Nonsynonymous SNV R250C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 165784 chr15 35176872 35176872 C T rs751782513 AQR Nonsynonymous SNV V961I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.2 165785 chr15 90286579 90286579 A G WDR93 Nonsynonymous SNV Q645R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 165786 chr20 2321138 2321138 C T rs150949349 TGM3 Nonsynonymous SNV R665W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 34 165787 chr3 196089450 196089450 C G UBXN7 Nonsynonymous SNV D315H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 165788 chr15 93015508 93015508 C T C15orf32 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 165789 chr15 41023367 41023367 C T rs202116013 RAD51 Synonymous SNV A338A 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 16.75 165790 chr15 42137909 42137909 C G rs34666895 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV G477G 0.004 0 0 0 5 0 0 0 0 0 0 0 12.14 165791 chr15 42185660 42185660 G A rs188523186 SPTBN5 Synonymous SNV L12L 0.004 0 0 0 5 0 0 0 0 0 0 0 3.232 165792 chr4 2132994 2132994 G T rs759616275 POLN Nonsynonymous SNV H585Q 0 0.005 0 0 0 2 0 0 0 0 0 0 14.79 165793 chr4 2172826 2172826 T A rs199559764 POLN Nonsynonymous SNV E486V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.6 165794 chr20 35827543 35827543 C T rs144151309 RPN2 Synonymous SNV L100L 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 0 13.91 165795 chr14 104644120 104644120 C T rs370538338 KIF26A Synonymous SNV R1665R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 165796 chr1 247464297 247464297 C T ZNF496 Nonsynonymous SNV E430K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.94 165797 chr5 35910629 35910629 C T rs748659530 CAPSL Nonsynonymous SNV D52N 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 165798 chr5 37245866 37245866 G A CPLANE1 Nonsynonymous SNV P55S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 165799 chr16 19083372 19083372 A C rs771847757 COQ7 Nonsynonymous SNV I28L 0.002 0 0 0 2 0 0 0 0 0 0 0 32 165800 chr2 131673251 131673251 T A ARHGEF4 Nonsynonymous SNV Y578N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.907 165801 chr14 20344547 20344547 G A rs142549715 OR4K2 Nonsynonymous SNV G41S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 165802 chr20 468186 468186 G A rs41306790 CSNK2A1 Synonymous SNV H150H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.818 165803 chr5 140263150 140263150 C G PCDHA13 Nonsynonymous SNV P433A 0 0 0 1 0 0 0.003 0 0 0 0 0 23 165804 chr20 47707489 47707489 A G rs771972101 CSE1L Synonymous SNV Q709Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.296 165805 chr5 50111269 50111269 A G rs746022779 PARP8 Nonsynonymous SNV T527A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 165806 chr20 47865672 47865672 C T rs36068952 ZNFX1 Nonsynonymous SNV G1297S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 11.72 165807 chr2 136107757 136107757 G C rs61744517 ZRANB3 Nonsynonymous SNV L130V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21 165808 chr14 20666506 20666506 G C rs138638085 OR11G2 Nonsynonymous SNV A338P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 165809 chr20 48140768 48140768 - CTTGT rs763200601 PTGIS Frameshift insertion D228Tfs*110 0 0 0.003 0 0 0 0 1 0 0 0 0 165810 chr5 140755698 140755698 A T rs200974904 PCDHGA6 Nonsynonymous SNV K683I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.379 165811 chr5 54529290 54529290 T C rs748757403 CCNO Nonsynonymous SNV N21S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.886 165812 chr2 143742682 143742682 T C rs139634527 KYNU Synonymous SNV H253H 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign 2.98 165813 chr19 33628589 33628589 T C rs147156559 WDR88 Nonsynonymous SNV F95L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.38 165814 chr19 34984455 34984455 A G rs763006918 WTIP Nonsynonymous SNV N320S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 165815 chr15 66790035 66790035 T A rs143176301 SNAPC5 Nonsynonymous SNV E12V 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 26.1 165816 chr15 66790036 66790036 C T rs151153879 SNAPC5 Nonsynonymous SNV E12K 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 28.5 165817 chr2 160833854 160833854 T G PLA2R1 Nonsynonymous SNV K781T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 165818 chr16 3021701 3021701 G C PAQR4 Nonsynonymous SNV G118R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 165819 chr2 166226682 166226682 T C SCN2A Nonsynonymous SNV M1241T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 165820 chr14 99927535 99927535 A G rs766216016 SETD3 Synonymous SNV D113D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.561 165821 chr20 60908154 60908154 C T LAMA5 Nonsynonymous SNV G1092S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 165822 chr20 60928159 60928159 C G LAMA5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.068 165823 chr15 72495443 72495443 C G rs778938520 PKM Nonsynonymous SNV M414I 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 20.3 165824 chr20 61467282 61467282 G A rs148610956 COL9A3 Nonsynonymous SNV G460S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.7 165825 chr14 24709069 24709069 G C rs201083863 TINF2 Synonymous SNV P395P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign/Likely benign 0.011 165826 chr2 21229006 21229006 G A rs773361538 APOB Synonymous SNV F3578F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.163 165827 chr15 74426331 74426331 A G ISLR2 Synonymous SNV K412K 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.118 165828 chr15 24921312 24921312 C T rs34414968 NPAP1 Synonymous SNV L100L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 7.517 165829 chr15 28358819 28358819 T C rs138725743 HERC2 Nonsynonymous SNV H4640R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.9 165830 chr2 26688697 26688697 C T rs146982209 OTOF Nonsynonymous SNV E858K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 165831 chr19 3779424 3779424 G C MATK Nonsynonymous SNV T277S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.423 165832 chr4 68619825 68619825 T C rs371736192 GNRHR Nonsynonymous SNV K77E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 165833 chr20 62839453 62839455 GAG - rs147483668 MYT1 E306del 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 165834 chr2 26750769 26750769 G A rs1879761 OTOF Nonsynonymous SNV A53V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 23.1 165835 chr2 26760593 26760593 G A rs116525289 OTOF Synonymous SNV D43D 0.008 0.005 0.01 3 9 2 0.008 3 0 0 0 0 Benign 9.728 165836 chr2 178565870 178565870 G T rs149627351 PDE11A Synonymous SNV A297A 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 12.14 165837 chr5 157098821 157098821 C G C5orf52 Nonsynonymous SNV P67A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 9.666 165838 chr20 9404515 9404515 C T rs745489184 PLCB4 Stop gain R802X 0 0 0.003 0 0 0 0 1 0 0 0 0 46 165839 chr2 179447132 179447132 C T rs587780981 TTN Synonymous SNV V12952V 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.73 165840 chr2 179468674 179468674 A G rs200585270 TTN Nonsynonymous SNV M9182T 0.005 0 0 3 6 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.03 165841 chr2 27435268 27435268 C T rs201498828 ATRAID Nonsynonymous SNV T11I 0.007 0.003 0.014 1 8 1 0.003 4 1 0 0 0 0.002 165842 chr16 4731628 4731628 G A rs375572879 MGRN1 Synonymous SNV P381P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 165843 chr15 40293389 40293389 T G rs55727287 EIF2AK4 Synonymous SNV P1041P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 9.236 165844 chr2 28752198 28752198 A T PLB1 Nonsynonymous SNV I114F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 165845 chr4 74008480 74008480 C T rs199962976 ANKRD17 Synonymous SNV A541A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.31 165846 chr2 28796165 28796165 C T rs142431648 PLB1 Stop gain R487X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 165847 chr2 28796168 28796168 G C rs776639920 PLB1 Nonsynonymous SNV A488P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 165848 chr5 173036253 173036253 C G rs759545055 BOD1 Nonsynonymous SNV D183H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 165849 chr21 33949116 33949116 T G rs771606872 C21orf59-TCP10L, TCP10L Nonsynonymous SNV T206P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 165850 chr4 79328901 79328901 C T rs779970777 FRAS1 Nonsynonymous SNV P1405L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.8 165851 chr21 34542017 34542017 C T rs79010120 LINC01548 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 165852 chr4 79792166 79792166 C G rs200441916 BMP2K Nonsynonymous SNV H487Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.344 165853 chr21 37603260 37603260 C T rs61750836 DOP1B Synonymous SNV N726N 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 7.036 165854 chr15 42147563 42147563 C T rs371637389 SPTBN5 Synonymous SNV A3094A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 165855 chr5 122491674 122491674 G A rs201339136 PRDM6 Nonsynonymous SNV G333R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 165856 chr4 90170442 90170442 G A GPRIN3 Nonsynonymous SNV P274S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 165857 chr2 43768308 43768308 G A rs190742439 THADA Nonsynonymous SNV T1085M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 165858 chr4 90647794 90647794 G A rs76642636 SNCA Synonymous SNV Y108Y 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Benign/Likely benign 5.541 165859 chr15 90135314 90135314 G A TICRR Nonsynonymous SNV G482D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 165860 chr15 90169233 90169233 C G rs144405496 TICRR Nonsynonymous SNV T1847S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 29.9 165861 chr15 90171722 90171722 A T rs141028210 KIF7 Synonymous SNV P1320P 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 165862 chr19 42752914 42752914 G A rs758268534 ERF Synonymous SNV D375D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.969 165863 chr14 63851170 63851170 A G rs150661526 PPP2R5E Synonymous SNV H322H 0.008 0.01 0 4 9 4 0.01 0 0 0 0 0 6.749 165864 chr19 42859917 42859917 C T rs34225188 MEGF8 Synonymous SNV L1317L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 7.629 165865 chr19 42866340 42866340 G A rs776680225 MEGF8 Nonsynonymous SNV R1873Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 165866 chr19 42879810 42879810 G A rs45623135 MEGF8 Nonsynonymous SNV R2407H 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Likely benign 33 165867 chr15 90611512 90611512 C T rs759224633 ZNF710 Synonymous SNV C381C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.069 165868 chr2 49191004 49191004 T C rs147685926 FSHR Nonsynonymous SNV E293G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 1.412 165869 chr15 44084541 44084541 G A rs765184582 SERF2-C15ORF63 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 165870 chr15 44955786 44955786 C G rs544136842 SPG11 Synonymous SNV A20A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.62 165871 chr21 44836943 44836943 G C SIK1, SIK1B Synonymous SNV P677P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 165872 chr15 45555359 45555359 G A rs771965795 SLC28A2 Synonymous SNV S121S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.465 165873 chr2 61304167 61304167 A G rs373027677 KIAA1841 Nonsynonymous SNV M36V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 165874 chr15 48426703 48426703 A G rs920604977 SLC24A5 Nonsynonymous SNV I153V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.59 165875 chr15 52404781 52404781 A T BCL2L10 Nonsynonymous SNV V48E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 165876 chr21 46875575 46875575 C T rs199984023 COL18A1 Nonsynonymous SNV T44M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.896 165877 chr19 44933671 44933672 CT - rs765169495 ZNF229 K425Afs*61 0 0.003 0 0 0 1 0 0 0 0 0 0 165878 chr16 75513231 75513231 G C rs141965945 CHST6 Nonsynonymous SNV R166G 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Uncertain significance 22.7 165879 chr16 1270197 1270197 G A CACNA1H Nonsynonymous SNV E2083K 0.003 0 0 0 3 0 0 0 0 0 0 0 4.177 165880 chr2 219029086 219029086 G A rs267599207 CXCR1 Synonymous SNV I283I 0.003 0 0 0 3 0 0 0 0 0 0 0 1.012 165881 chr2 219513591 219513591 T C rs747455639 ZNF142 Nonsynonymous SNV H347R 0.003 0 0 0 3 0 0 0 0 0 0 0 19 165882 chr2 219894817 219894817 C T rs750248164 CFAP65 Synonymous SNV S360S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.497 165883 chr19 47570716 47570716 C T rs368486156 ZC3H4 Nonsynonymous SNV V937M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.85 165884 chr2 220421227 220421227 C T rs375101491 OBSL1 Nonsynonymous SNV V1429M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 24.5 165885 chr16 84224857 84224857 C G ADAD2 Synonymous SNV G7G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.52 165886 chr19 47861252 47861252 G C rs144919221 DHX34 Nonsynonymous SNV V383L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 13.35 165887 chr16 2025539 2025539 G A rs553910687 TBL3 Nonsynonymous SNV R272H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 165888 chr4 153881764 153881764 G A rs141616723 FHDC1 Synonymous SNV L237L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 165889 chr16 84879416 84879416 T C rs754175411 CRISPLD2 Nonsynonymous SNV S89P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 165890 chr22 23637307 23637307 A T rs745737268 BCR Nonsynonymous SNV S993C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 165891 chr2 225653845 225653845 G T rs115694631 DOCK10 Nonsynonymous SNV P1779Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26 165892 chr2 97637799 97637799 C G FAM178B Nonsynonymous SNV V135L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 165893 chr16 86601367 86601367 G A rs41312258 FOXC2 Synonymous SNV K142K 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 14.53 165894 chr2 98804489 98804489 G A rs201222817 VWA3B Nonsynonymous SNV A112T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 165895 chr16 2098633 2098633 G A rs758239066 TSC2 Nonsynonymous SNV S6N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 165896 chr16 2141819 2141819 G A PKD1 Synonymous SNV L3833L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 165897 chr2 230724253 230724253 G C rs755281314 TRIP12 Nonsynonymous SNV P46A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.418 165898 chr4 159690464 159690464 G A rs891526892 FNIP2 Nonsynonymous SNV A34T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.8 165899 chr22 27456235 27456235 C T rs149526012 LOC284898 Synonymous SNV Q28Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.174 165900 chr2 101591372 101591372 C T rs200967952 NPAS2 Synonymous SNV H416H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.49 165901 chr5 150946098 150946098 G T rs368278070 FAT2 Nonsynonymous SNV Q799K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 165902 chr4 164394341 164394341 G C TKTL2 Synonymous SNV V182V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.706 165903 chr16 2303989 2303989 G A rs899385175 RNPS1 Nonsynonymous SNV A228V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 6.5 165904 chr4 175158632 175158632 T C rs148818503 FBXO8 Synonymous SNV Q297Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.164 165905 chr5 157065545 157065545 G A rs150102127 SOX30 Nonsynonymous SNV H525Y 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 12.31 165906 chr16 28596987 28596987 C T rs371750928 SGF29 Nonsynonymous SNV T57I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 165907 chr2 233735073 233735073 C T rs199967566 SNORC Nonsynonymous SNV R32C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 165908 chr16 28990544 28990544 G A rs372768895 SPNS1 Synonymous SNV A149A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.201 165909 chr2 234237136 234237136 A G rs199839554 SAG Synonymous SNV R175R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.032 165910 chr6 42073603 42073603 G A rs200544470 C6orf132 Nonsynonymous SNV L683F 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 8.026 165911 chr2 236957824 236957824 C T rs147314067 AGAP1 Synonymous SNV V618V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.6 165912 chr2 122168523 122168523 T C rs369858931 CLASP1 Synonymous SNV P745P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.529 165913 chr5 172196053 172196053 G A rs141498783 DUSP1 Synonymous SNV Y272Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.786 165914 chr5 173036437 173036437 - TGAACCACA BOD1 V120_Q121insHVV 0.001 0 0 0 1 0 0 0 0 0 0 0 165915 chr15 34016299 34016299 C T rs772909257 RYR3 Synonymous SNV I2278I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.17 165916 chr16 3117616 3117616 T C IL32 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.736 165917 chr6 43480299 43480299 T C rs756030117 YIPF3 Synonymous SNV V261V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.11 165918 chr5 176919610 176919610 G A rs139641229 PDLIM7 Synonymous SNV G55G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.81 165919 chr22 40666230 40666230 T C rs140403953 TNRC6B Nonsynonymous SNV S971P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 165920 chr15 41786173 41786173 G C rs190590881 ITPKA Synonymous SNV A16A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 9.32 165921 chr19 5223070 5223070 G A rs757772851 PTPRS Synonymous SNV G889G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 165922 chr5 11111117 11111117 C T rs148199852 CTNND2 Synonymous SNV S435S 0 0.005 0 3 0 2 0.008 0 0 0 0 0 Likely benign 19.1 165923 chr22 43568533 43568533 C T rs753913805 TTLL12 Nonsynonymous SNV V457M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 165924 chr2 152541356 152541356 T G rs199903114 NEB Nonsynonymous SNV Y924S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 24.4 165925 chr16 4935061 4935061 C G rs12446946 PPL Nonsynonymous SNV E1199Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Likely benign 14.32 165926 chr22 47433006 47433006 A G rs776477061 TBC1D22A Nonsynonymous SNV Y336C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 165927 chr22 50470437 50470437 A C TTLL8 Nonsynonymous SNV F478C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 165928 chr15 49311734 49311734 G A rs750394782 SECISBP2L Stop gain R351X 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 38 165929 chr2 170366741 170366741 C A rs201642274 KLHL41 Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 165930 chr22 50944467 50944467 C T rs149528971 LMF2 Synonymous SNV S232S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.958 165931 chr22 51021237 51021237 C T rs367729011 CHKB-CPT1B 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 11.33 165932 chr16 1271950 1271950 G A rs200501703 TPSG1 Synonymous SNV H268H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.101 165933 chr19 54967235 54967235 C T rs376186171 LENG8 Nonsynonymous SNV A372V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.87 165934 chr17 21319305 21319305 C A rs782049190 KCNJ12, KCNJ18 Nonsynonymous SNV N217K 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 165935 chr2 178977549 178977549 C T RBM45 Synonymous SNV G92G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.05 165936 chr6 25495362 25495362 C A rs370215465 CARMIL1 Nonsynonymous SNV S415Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 165937 chr2 179401831 179401831 C G rs779632637 TTN Nonsynonymous SNV E24270D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.4 165938 chr16 1488079 1488079 C T rs145873417 CCDC154 Nonsynonymous SNV R375Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.58 165939 chr5 56161685 56161685 T G MAP3K1 Nonsynonymous SNV S394R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 165940 chr19 55677748 55677748 C G rs759585776 DNAAF3 Nonsynonymous SNV G59R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 34 165941 chr3 37089043 37089043 G A MLH1 Nonsynonymous SNV A231T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 165942 chr6 28333898 28333898 T C rs140495719 ZKSCAN3 Nonsynonymous SNV C337R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 165943 chr3 38050873 38050873 C G rs573596122 PLCD1 Nonsynonymous SNV C520S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 165944 chr16 19195046 19195046 C T rs200790399 SYT17 Synonymous SNV D172D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.2 165945 chr17 33269927 33269927 T C rs142360145 CCT6B 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.3 165946 chr15 69548150 69548150 G A rs140830366 GLCE Nonsynonymous SNV R2H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 165947 chr2 113940791 113940791 C A rs201700173 PSD4 Nonsynonymous SNV A253E 0 0 0.007 0 0 0 0 2 0 0 0 0 11.1 165948 chr2 114478923 114478923 C T rs113469098 MIR4782 0 0 0.027 0 0 0 0 8 0 0 0 0 5.344 165949 chr17 33806335 33806335 C T SLFN12L Synonymous SNV K298K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.97 165950 chr19 56424135 56424135 T C rs145993445 NLRP13 Nonsynonymous SNV K350E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 165951 chr2 120932441 120932441 A C rs753856682 EPB41L5 Nonsynonymous SNV S677R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.091 165952 chr16 24573195 24573195 A C RBBP6 Nonsynonymous SNV K334N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24.9 165953 chr16 2577943 2577943 A C rs182580356 AMDHD2 Nonsynonymous SNV E195D 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 6.163 165954 chr2 204309727 204309727 T C RAPH1 Nonsynonymous SNV Q547R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 165955 chr2 133403080 133403080 - AAG rs10631541 GPR39 K422_S423insK 0.002 0.005 0.031 1 2 2 0.003 9 0 0 0 0 165956 chr3 45127387 45127387 C T rs201971199 CDCP1 Nonsynonymous SNV G752S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 165957 chr17 37840908 37840908 T C PGAP3 Nonsynonymous SNV Y125C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 165958 chr2 207652765 207652765 C T rs781152090 FASTKD2 Nonsynonymous SNV R567W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 165959 chr6 42906403 42906403 C T rs200953616 CNPY3 Synonymous SNV G148G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 165960 chr6 135239889 135239889 C T rs138997999 ALDH8A1 Synonymous SNV T326T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.9 165961 chr2 214012519 214012519 G A rs568024055 IKZF2 Nonsynonymous SNV P18S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.9 165962 chr3 49059892 49059892 A C rs199504381 NDUFAF3 Nonsynonymous SNV N64T 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 15.91 165963 chr3 49064473 49064473 G C rs375196719 IMPDH2 Nonsynonymous SNV T180R 0.005 0 0 0 6 0 0 0 0 0 0 0 27.2 165964 chr2 214215339 214215339 C A rs201954949 SPAG16 Synonymous SNV T244T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.24 165965 chr5 111643143 111643143 G A rs370189897 EPB41L4A Synonymous SNV H48H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.58 165966 chr3 50097113 50097113 A G rs34707170 RBM6 Nonsynonymous SNV N199S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign 20.9 165967 chr5 114916884 114916884 C T rs749545960 TICAM2, TMED7-TICAM2 Nonsynonymous SNV D24N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 165968 chr2 219294388 219294388 T C rs141096673 VIL1 Nonsynonymous SNV L280P 0.002 0 0 0 2 0 0 0 0 0 0 0 25 165969 chr2 166172240 166172240 A G SCN2A Nonsynonymous SNV Y548C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 165970 chr6 54212192 54212192 A G rs781707913 TINAG Nonsynonymous SNV Q259R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.98 165971 chr16 88744865 88744865 C T rs373908638 SNAI3 Synonymous SNV P290P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.403 165972 chr6 64776324 64776324 G A rs145623359 EYS Nonsynonymous SNV S2211L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 20.3 165973 chr6 65300769 65300769 G A rs561830314 EYS Nonsynonymous SNV T1664I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.3 165974 chr6 159181684 159181684 G A rs200036398 SYTL3 Nonsynonymous SNV E235K 0 0 0 2 0 0 0.005 0 0 0 0 0 17.53 165975 chr5 132535129 132535129 T C rs141195594 FSTL4 Synonymous SNV Q729Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 165976 chr3 57494178 57494178 A G rs115714561 DNAH12 Nonsynonymous SNV M211T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 165977 chr3 58620055 58620055 C T FAM3D Stop gain W209X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 165978 chr17 41234436 41234436 T C rs80357486 BRCA1 Nonsynonymous SNV S1401G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.75 165979 chr2 175202185 175202208 GCGGCGGCGGCGGCAGCGGCGGCG - rs754681222 SP9 A463_A470del 0.003 0.008 0.003 1 4 3 0.003 1 0 1 0 0 165980 chr16 53686505 53686505 T C RPGRIP1L Synonymous SNV L698L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.808 165981 chr2 177054546 177054546 C G rs144526720 HOXD1 Synonymous SNV A221A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.684 165982 chr16 56500831 56500831 G A rs774982668 OGFOD1 Synonymous SNV S202S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.09 165983 chr2 17942801 17942801 G A rs747268551 GEN1 Synonymous SNV S100S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 165984 chr6 85447025 85447025 T C rs61733446 TBX18 Nonsynonymous SNV H401R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 165985 chr17 42430128 42430128 G A rs72824737 GRN Nonsynonymous SNV A582T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.452 165986 chr2 179578703 179578703 C T rs142812510 TTN Synonymous SNV P7650P 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.12 165987 chr5 140165959 140165959 C G PCDHA1 Nonsynonymous SNV S28R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.23 165988 chr17 42981387 42981387 G T rs915413210 FAM187A Nonsynonymous SNV V64F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.8 165989 chr5 140432429 140432429 C T PCDHB1 Synonymous SNV I458I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.909 165990 chr16 57760057 57760057 G A rs761692897 DRC7 Synonymous SNV A547A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.925 165991 chr2 183989208 183989208 C T rs913968718 NUP35 Nonsynonymous SNV P8L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 165992 chr19 9002152 9002152 C A MUC16 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 165993 chr19 900860 900860 C T rs200874967 R3HDM4 Synonymous SNV R148R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 165994 chr2 234365894 234365894 A G DGKD Nonsynonymous SNV S790G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 165995 chr2 18736909 18736909 T A NT5C1B-RDH14, RDH14 Nonsynonymous SNV I187F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 165996 chr5 145198948 145198948 C G rs369732569 PRELID2 Nonsynonymous SNV W79C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 165997 chr16 1821516 1821516 G A rs552834368 NME3 Nonsynonymous SNV T7I 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Likely benign 22.7 165998 chr7 6193722 6193722 C T rs200010499 USP42 Nonsynonymous SNV S846L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.16 165999 chr17 21207772 21207772 G A MAP2K3 Synonymous SNV E172E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 166000 chr16 766976 766976 A G rs779123557 METRN Synonymous SNV A183A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.421 166001 chr1 108298086 108298086 C T rs35313815 VAV3 Nonsynonymous SNV R379H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 35 166002 chr3 8590292 8590292 G T rs143268894 LMCD1 Nonsynonymous SNV Q69H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 25.2 166003 chr1 109813891 109813891 G A rs628525 CELSR2 Nonsynonymous SNV R2550Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 19.81 166004 chr2 218937179 218937179 G A rs568804040 RUFY4 Nonsynonymous SNV R79Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 166005 chr16 28878041 28878041 T C SH2B1 Nonsynonymous SNV V209A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.024 166006 chr5 172362231 172362231 C A ERGIC1 Nonsynonymous SNV A228E 0 0.003 0 0 0 1 0 0 0 0 0 0 34 166007 chr3 10312599 10312599 A G rs115264168 TATDN2 Nonsynonymous SNV N578S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.84 166008 chr2 220038895 220038895 A G CNPPD1 Nonsynonymous SNV F182S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 166009 chr16 3100369 3100369 T C rs550602066 MMP25 Synonymous SNV D161D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.004 166010 chr2 220405129 220405129 C T rs774014211 CHPF Nonsynonymous SNV R273H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 166011 chr16 4165240 4165240 G A ADCY9 Synonymous SNV G68G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.21 166012 chr17 7124859 7124859 C T rs371910495 ACADVL Synonymous SNV Y138Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.203 166013 chr16 46761168 46761168 T G MYLK3 Nonsynonymous SNV I291L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 166014 chr6 160225001 160225001 A G rs927874749 PNLDC1 Nonsynonymous SNV I85V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 166015 chr7 48563992 48563992 A T rs756480355 ABCA13 Nonsynonymous SNV I4734F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 166016 chr16 48134784 48134784 A G rs6500304 ABCC12 Nonsynonymous SNV Y1013H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.021 166017 chr16 48134856 48134856 T A rs6500305 ABCC12 Nonsynonymous SNV T989S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.627 166018 chr16 48138259 48138259 A G rs9925287 ABCC12 Synonymous SNV S898S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.379 166019 chr16 48149467 48149467 A G rs9302750 ABCC12 Synonymous SNV A616A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 166020 chr16 48151198 48151198 T A rs16945816 ABCC12 Nonsynonymous SNV N587Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.7 166021 chr1 12318084 12318084 G A rs375165536 VPS13D Nonsynonymous SNV R345H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 166022 chr6 5004057 5004058 CT - rs1025088760 LYRM4-AS1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 166023 chr16 48385628 48385628 G A rs77042401 LONP2 Nonsynonymous SNV S781N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.72 166024 chr1 1325678 1325678 C T rs762494947 CCNL2 Nonsynonymous SNV R91Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.82 166025 chr2 234750380 234750380 C T rs34042006 HJURP Nonsynonymous SNV R264H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.036 166026 chr17 7293954 7293954 A G rs745587640 PLSCR3 Nonsynonymous SNV I108T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 166027 chr16 54319717 54319717 C T rs754783080 IRX3 Synonymous SNV E82E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.775 166028 chr16 89704315 89704315 C T rs373692597 DPEP1 Nonsynonymous SNV T334M 0 0.003 0 0 0 1 0 0 0 0 0 0 28 166029 chr3 167742868 167742868 C T GOLIM4 Nonsynonymous SNV D519N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 166030 chr3 44345540 44345540 G A rs977974875 TOPAZ1 Synonymous SNV K1277K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.69 166031 chr3 44683787 44683787 C T rs189212632 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV R176W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 166032 chr6 24436831 24436831 T C rs1062522 GPLD1 Synonymous SNV S777S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.604 166033 chr2 241535749 241535749 G A rs201807668 CAPN10 Nonsynonymous SNV R431Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 166034 chr6 26124551 26124551 - A H2AC6 Frameshift insertion V31Dfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 166035 chr16 67709487 67709487 C T GFOD2 Nonsynonymous SNV M243I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 17.69 166036 chr2 24255727 24255727 A G rs752177669 WDCP Synonymous SNV F636F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.706 166037 chr6 27834862 27834862 T C H1-5 Nonsynonymous SNV K149R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 166038 chr2 242756316 242756316 C T rs375117038 NEU4 Synonymous SNV T156T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 166039 chr3 46902253 46902253 C T rs730880956 MYL3 Nonsynonymous SNV G74R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.6 166040 chr6 33695951 33695951 G A rs150896095 IP6K3 Nonsynonymous SNV T109M 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 18.3 166041 chr6 34208575 34208575 G A rs376817030 HMGA1 Synonymous SNV S6S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 166042 chr17 42476587 42476587 C T rs200542328 GPATCH8 Nonsynonymous SNV R875H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 166043 chr17 19642312 19642312 C T rs146191728 ALDH3A1 Nonsynonymous SNV V405M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 166044 chr17 43924136 43924136 T C rs201078809 SPPL2C Nonsynonymous SNV S622P 0.003 0 0 0 4 0 0 0 2 0 0 0 2.365 166045 chr7 21470111 21470111 A G SP4 Nonsynonymous SNV N426S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 166046 chr2 28824155 28824155 G A rs149302160 PLB1 Nonsynonymous SNV V844M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 166047 chr3 50155887 50155887 - GA rs762191784 RBM5 X816delinsX 0.001 0 0.003 0 1 0 0 1 0 0 0 0 166048 chr7 100320614 100320614 C G rs149431976 EPO Nonsynonymous SNV S147C 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 19.59 166049 chr7 100457539 100457539 G A rs146645074 SLC12A9 Nonsynonymous SNV R194H 0.004 0.005 0 5 5 2 0.013 0 0 0 0 0 22.6 166050 chr7 27134950 27134950 G C rs751945966 HOXA1 Nonsynonymous SNV R127G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.35 166051 chr3 195594533 195594533 T C rs778020093 TNK2 Nonsynonymous SNV E896G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.8 166052 chr6 41559028 41559028 G A FOXP4 Nonsynonymous SNV A502T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 166053 chr16 818459 818459 G A rs764982797 MSLN Synonymous SNV V567V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 4.113 166054 chr16 820249 820249 G A rs9745376 MIR662 0.006 0.005 0.01 1 7 2 0.003 3 0 0 1 0 5.907 166055 chr2 38298169 38298169 G C rs4986888 CYP1B1 Nonsynonymous SNV A443G 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Benign/Likely benign 7.369 166056 chr2 38298419 38298419 A G rs141245683 CYP1B1 Synonymous SNV L360L 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.726 166057 chr2 38301803 38301803 C G rs9341249 CYP1B1 Synonymous SNV V243V 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Benign 11.5 166058 chr16 836199 836199 G A rs55658005 RPUSD1 Synonymous SNV F101F 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 8.585 166059 chr16 836342 836342 G A rs57753356 RPUSD1 Synonymous SNV L54L 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 7.796 166060 chr6 43400469 43400469 C G ABCC10 Nonsynonymous SNV P208A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 166061 chr7 39991170 39991170 C T rs11548117 CDK13 Synonymous SNV Y310Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.354 166062 chr4 1739352 1739352 G A rs754513840 TACC3 Nonsynonymous SNV A622T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.337 166063 chr4 1978219 1978219 A T rs367914017 NSD2 Synonymous SNV S1213S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.622 166064 chr2 55912084 55912084 T C rs756714219 PNPT1 Nonsynonymous SNV I133V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.23 166065 chr2 58392923 58392925 CTC - FANCL E214del 0 0 0.003 0 0 0 0 1 0 0 0 0 166066 chr4 2833310 2833310 C T rs201959118 SH3BP2 Synonymous SNV P418P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.47 166067 chr17 55918397 55918397 T C MRPS23 Nonsynonymous SNV T104A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 166068 chr6 50682948 50682948 C G rs780621262 TFAP2D Synonymous SNV T53T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.95 166069 chr17 57287813 57287813 - CTACAGCCTTCTGCAGGC rs781090088 SMG8 Y141_Y142insSLLQAY 0.001 0 0 0 1 0 0 0 0 0 0 0 166070 chr4 6863306 6863306 G A KIAA0232 Synonymous SNV E399E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.341 166071 chr7 100732844 100732844 C T rs148309415 TRIM56 Nonsynonymous SNV R751C 0.004 0.003 0.003 6 5 1 0.015 1 0 0 0 0 30 166072 chr1 171535922 171535922 G C rs761129624 PRRC2C Nonsynonymous SNV M2164I 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 10.7 166073 chr7 104377333 104377333 A C LHFPL3 Synonymous SNV A219A 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 2.473 166074 chr18 30795541 30795545 CTTTT - rs768473871 CCDC178 K645Ffs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 166075 chr3 111799846 111799846 G T TMPRSS7 Nonsynonymous SNV S690I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 166076 chr2 85982017 85982017 G C rs76354978 ATOH8 Synonymous SNV A235A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.95 166077 chr17 38348863 38348863 C T RAPGEFL1 Synonymous SNV P403P 0 0.005 0 0 0 2 0 0 0 0 0 0 13.99 166078 chr1 17552648 17552648 C T rs768873871 PADI1 Nonsynonymous SNV A216V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 166079 chr2 86709196 86709196 C T rs142313434 KDM3A Nonsynonymous SNV R886W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 166080 chr2 95815229 95815229 T C rs141510791 ZNF514 Nonsynonymous SNV H407R 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 25.3 166081 chr3 113775346 113775346 C G CCDC191 Nonsynonymous SNV S28T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.97 166082 chr1 178483882 178483882 A G rs137984505 TEX35 Synonymous SNV A54A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.291 166083 chr18 44065065 44065065 G A rs146200756 LOXHD1 Synonymous SNV N272N 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 13.31 166084 chr2 97523720 97523720 G A rs200576046 ANKRD39 Nonsynonymous SNV A2V 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 27.8 166085 chr17 7096390 7096390 G A rs35441057 DLG4 Synonymous SNV Y520Y 0.007 0.005 0.014 2 8 2 0.005 4 0 0 0 0 Benign 8.446 166086 chr2 99272863 99272863 T - MGAT4A D89Afs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 166087 chr3 10258632 10258632 A G rs201789350 IRAK2 Nonsynonymous SNV N268S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.5 166088 chr7 94989318 94989318 G A rs201745303 PON3 Synonymous SNV T344T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 14.64 166089 chr17 16455683 16455683 G A ZNF287 Synonymous SNV S543S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.204 166090 chr1 186276475 186276475 - CCAAGTCTGCACCCACCACTC rs752814366 PRG4 K416_E417insSAPTTPK 0 0.003 0 0 0 1 0 0 0 0 0 0 166091 chr7 100159926 100159926 G A rs147498213 AGFG2 Nonsynonymous SNV A308T 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 6.046 166092 chr7 100247676 100247676 G A rs570116007 ACTL6B Nonsynonymous SNV T151M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 166093 chr3 124303696 124303696 C T rs56407180 KALRN Stop gain R10X 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 37 166094 chr17 72999510 72999510 C A rs868483725 CDR2L Nonsynonymous SNV L247M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 166095 chr3 112358333 112358333 G C rs146607512 CCDC80 Nonsynonymous SNV N140K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 166096 chr1 193028548 193028548 G T rs374438890 UCHL5 Nonsynonymous SNV A15D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.756 166097 chr17 73872867 73872867 C T rs781545903 TRIM47 Nonsynonymous SNV V235M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 166098 chr17 41006502 41006502 T C AOC3 Synonymous SNV F546F 0 0.003 0 0 0 1 0 0 0 0 0 0 5.509 166099 chr17 73897094 73897094 C T MRPL38 Nonsynonymous SNV E227K 0.002 0 0 0 2 0 0 0 0 0 0 0 31 166100 chr3 120320131 120320131 A G rs138283839 NDUFB4 Synonymous SNV V118V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.204 166101 chr3 121202350 121202350 G A rs61756404 POLQ Synonymous SNV C1951C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.829 166102 chr3 121341383 121341383 T C rs34740909 FBXO40 Synonymous SNV S369S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.004 166103 chr3 121354620 121354620 G A rs61749596 HCLS1 Nonsynonymous SNV P181L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 25.3 166104 chr18 72775332 72775332 G A rs770486126 ZNF407 Synonymous SNV T1885T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 166105 chr6 119232853 119232853 C T MCM9 Nonsynonymous SNV R371K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 166106 chr3 121396172 121396174 GAA - rs138361473 GOLGB1 S2921del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 166107 chr3 130656282 130656282 T C ATP2C1 Nonsynonymous SNV I107T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.3 166108 chr3 122060390 122060390 G T rs34021626 CSTA Nonsynonymous SNV K91N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.2 166109 chr3 124045010 124045010 G T rs138624947 KALRN Nonsynonymous SNV A424S 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 20.8 166110 chr3 124209632 124209632 G A rs745828438 KALRN Synonymous SNV R1444R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.446 166111 chr6 135360866 135360866 A T HBS1L Nonsynonymous SNV L50H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 166112 chr6 135539091 135539091 A G rs772254175 MYB Synonymous SNV A547A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.253 166113 chr3 124731553 124731553 G T rs147885895 HEG1 Nonsynonymous SNV T957K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 166114 chr17 465920 465920 T C rs755030332 VPS53 Nonsynonymous SNV N431S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.151 166115 chr19 10087949 10087949 C G COL5A3 Nonsynonymous SNV G1082R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.9 166116 chr3 126142189 126142189 C T rs78360289 CFAP100 Synonymous SNV P368P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.205 166117 chr17 76989715 76989715 T A rs139486406 CANT1 Nonsynonymous SNV M375L 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign/Likely benign 20.5 166118 chr17 27902120 27902120 C T GIT1 Nonsynonymous SNV E684K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 166119 chr6 143092442 143092442 G C rs373421716 HIVEP2 Nonsynonymous SNV P1145R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 166120 chr3 126260772 126260772 C T rs143024190 CHST13 Nonsynonymous SNV A126V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.4 166121 chr17 27959719 27959719 C A rs200437711 SSH2 Nonsynonymous SNV E804D 0.003 0.01 0 0 3 4 0 0 0 0 0 0 11 166122 chr3 126915792 126915792 G A rs373620737 C3orf56 Stop gain W88X 0 0 0.003 0 0 0 0 1 0 0 0 0 31 166123 chr3 127340583 127340583 C T rs6794323 MCM2 Synonymous SNV D894D 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 11.47 166124 chr3 127379730 127379730 G A rs35126395 PODXL2 Nonsynonymous SNV E287K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.536 166125 chr3 127387388 127387388 C T rs34716022 PODXL2 Synonymous SNV S437S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 10.73 166126 chr19 10395468 10395468 G A rs5497 ICAM1 Nonsynonymous SNV R397Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 18.65 166127 chr3 12977661 12977661 C T rs772363453 IQSEC1 Synonymous SNV S285S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 166128 chr3 130128919 130128919 G A rs138598893 COL6A5 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 166129 chr8 6360652 6360652 T A ANGPT2 Synonymous SNV T435T 0.004 0.013 0 5 5 5 0.013 0 0 0 0 0 9.74 166130 chr3 132416206 132416206 C T rs77533254 NPHP3 Synonymous SNV R662R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.19 166131 chr3 164907752 164907752 T C rs201324075 SLITRK3 Synonymous SNV V289V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.003 166132 chr19 11727808 11727808 G A rs893948956 ZNF627 Nonsynonymous SNV G54R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.6 166133 chr19 12060021 12060021 A G rs112985154 ZNF700 Synonymous SNV Q397Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.892 166134 chr6 159654319 159654319 C T rs766054040 FNDC1 Synonymous SNV I925I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.23 166135 chr3 183528189 183528189 T G YEATS2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.966 166136 chr17 37819150 37819150 G T rs139221372 STARD3 Nonsynonymous SNV A425S 0.005 0.008 0 0 6 3 0 0 0 0 0 0 3.947 166137 chr6 161653165 161653165 G A AGPAT4 Synonymous SNV I27I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.033 166138 chr17 57057462 57057462 A G PPM1E Synonymous SNV A446A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.2 166139 chr8 19675156 19675156 C T rs200218159 INTS10 Synonymous SNV Y36Y 0 0 0 3 0 0 0.008 0 0 0 0 0 13.4 166140 chr1 225525864 225525864 C G rs56918103 DNAH14 Nonsynonymous SNV F3471L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 13.08 166141 chr7 138758745 138758745 G A rs144346512 ZC3HAV1 Nonsynonymous SNV R699W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 166142 chr1 225534324 225534324 T C rs73136911 DNAH14 Nonsynonymous SNV I3755T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 2.504 166143 chr1 228437772 228437772 G A rs12080655 OBSCN Synonymous SNV E1380E 0.003 0.008 0.003 2 4 3 0.005 1 0 0 0 0 5.93 166144 chr8 27320526 27320526 G T rs56344740 CHRNA2 Nonsynonymous SNV D478E 0.002 0.003 0.007 5 2 1 0.013 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.104 166145 chr1 228452032 228452032 G A rs55706639 OBSCN Nonsynonymous SNV A1601T 0.006 0.008 0.003 2 7 3 0.005 1 0 0 0 0 22.5 166146 chr1 228469903 228469903 A T rs3795786 OBSCN Stop gain R2823X 0.012 0.008 0.003 7 14 3 0.018 1 0 0 0 0 37 166147 chr1 228469904 228469904 G T rs3795787 OBSCN Nonsynonymous SNV R2823I 0.012 0.008 0.003 7 14 3 0.018 1 0 0 0 0 22.9 166148 chr7 1510282 1510282 G A rs139726435 INTS1 Synonymous SNV Y2168Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.372 166149 chr4 140811401 140811401 C G rs1005970053 MAML3 Nonsynonymous SNV V397L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.022 166150 chr3 184428723 184428723 G A MAGEF1 Nonsynonymous SNV A296V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 166151 chr3 185975646 185975646 T C rs769690982 DGKG Nonsynonymous SNV I478V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 166152 chr1 229600595 229600595 G A rs770096040 NUP133 Nonsynonymous SNV T776M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.6 166153 chr4 152637236 152637236 C T rs769705880 GATB Nonsynonymous SNV E230K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 166154 chr17 40175720 40175720 C T rs147962346 NKIRAS2 Nonsynonymous SNV R129C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 166155 chr17 40725533 40725533 G A rs138643376 PSMC3IP Nonsynonymous SNV A86V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.8 166156 chr3 186570746 186570746 T G rs17846866 ADIPOQ-AS1 0 0 0.037 0 0 0 0 11 0 0 1 0 2.202 166157 chr18 43328367 43328367 G A rs140320419 SLC14A1 Nonsynonymous SNV G193S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.53 166158 chr3 189705451 189705451 C T rs115135098 P3H2 Synonymous SNV E140E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.3 166159 chr7 150840963 150840963 C T rs200498979 AGAP3 Nonsynonymous SNV P559L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 166160 chr19 18392154 18392154 C T JUND Synonymous SNV K4K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.25 166161 chr17 41852249 41852249 G A rs148312361 DUSP3 Synonymous SNV N61N 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 10.71 166162 chr17 41925963 41925963 G C rs776536925 CD300LG Synonymous SNV G27G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.281 166163 chr7 6661667 6661667 G C rs531568646 ZNF853 Nonsynonymous SNV E334Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 166164 chr18 46623796 46623796 A G DYM Synonymous SNV V551V 0.004 0 0 0 5 0 0 0 0 0 0 0 1.351 166165 chr17 42395576 42395576 C G rs147484929 RUNDC3A Synonymous SNV P437P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.61 166166 chr18 51750569 51750589 CGCCGCCGCCACCGCTGCCGC - MBD2 G114_G120del 0.004 0 0 0 5 0 0 0 0 0 0 0 166167 chr17 72848730 72848730 C T rs373450328 GRIN2C Synonymous SNV L140L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.65 166168 chr19 20002783 20002783 C G rs755707818 ZNF253 Nonsynonymous SNV L167V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 22.8 166169 chr1 236754150 236754150 T C rs142194718 HEATR1 Synonymous SNV S509S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.431 166170 chr18 56191247 56191247 G A rs56146550 ALPK2 Nonsynonymous SNV P1850L 0.003 0 0 0 3 0 0 0 0 0 0 0 19.08 166171 chr1 241799029 241799029 T C rs148500723 CHML Nonsynonymous SNV I14V 0 0.01 0.003 2 0 4 0.005 1 0 0 0 0 0.069 166172 chr3 21448071 21448071 G A rs544213941 VENTXP7 0 0 0.003 0 0 0 0 1 0 0 0 0 4.353 166173 chr1 24202094 24202094 C T rs202092094 CNR2 Stop gain W5X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 166174 chr3 25805636 25805636 G C rs746095871 NGLY1 Nonsynonymous SNV P138R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 166175 chr7 27203419 27203419 T C HOXA9 Nonsynonymous SNV K208E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.7 166176 chr8 95390481 95390481 T C RAD54B Synonymous SNV T630T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.718 166177 chr1 245851674 245851674 T G KIF26B Nonsynonymous SNV S1797A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 166178 chr4 185724503 185724503 C T rs114493597 ACSL1 Nonsynonymous SNV D56N 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 24.2 166179 chr3 35750507 35750507 T C ARPP21 Nonsynonymous SNV I281T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.45 166180 chr17 74288421 74288421 A G rs6501878 QRICH2 Nonsynonymous SNV I630T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 166181 chr17 74288422 74288422 T C rs6501879 QRICH2 Nonsynonymous SNV I630V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 166182 chr18 67266681 67266681 C T rs140434706 DOK6 Nonsynonymous SNV A79V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 166183 chr8 11704609 11704609 C A rs138438915 CTSB Nonsynonymous SNV V125L 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 33 166184 chr3 38755500 38755500 G T rs144350950 SCN10A Synonymous SNV T1153T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.064 166185 chr17 76127760 76127760 G C TMC8 Nonsynonymous SNV G31R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 166186 chr5 192467 192467 G A rs78454293 LRRC14B Nonsynonymous SNV A272T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 166187 chr17 54912191 54912191 C T rs146866423 DGKE Nonsynonymous SNV P12L 0.009 0.008 0.007 2 10 3 0.005 2 0 0 0 0 Likely benign 23.4 166188 chr7 38835070 38835070 C T rs756453901 VPS41 Nonsynonymous SNV V213I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.479 166189 chr18 74208435 74208435 C T C18orf65 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.283 166190 chr18 74590049 74590049 A T rs1053283924 ZNF236 Nonsynonymous SNV M309L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 166191 chr5 1201777 1201777 C T rs149106209 SLC6A19 Synonymous SNV L4L 0.004 0.008 0 0 5 3 0 0 0 0 0 0 9.572 166192 chr8 121262958 121262958 C T COL14A1 Nonsynonymous SNV S902F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.6 166193 chr17 58156209 58156209 - TGCTTCCCGCGG rs754417578 HEATR6 A22_I23insPREA 0.003 0.003 0 0 3 1 0 0 0 0 0 0 166194 chr3 44828059 44828059 C T rs34862960 KIF15 Nonsynonymous SNV A211V 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 Likely benign 25 166195 chr17 78063996 78064006 ACGCAGGCACG - CCDC40 H964Lfs*126 0 0.003 0 0 0 1 0 0 0 0 0 0 166196 chr17 78064008 78064028 GCACGAAGAACACGGGACGCG - CCDC40 C968_A975delinsS 0 0.003 0 0 0 1 0 0 0 0 0 0 166197 chr4 41648175 41648175 T G LIMCH1 Synonymous SNV V212V 0.003 0 0 0 4 0 0 0 0 0 0 0 10.54 166198 chr17 78321211 78321211 T C RNF213 Nonsynonymous SNV S3026P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 166199 chr19 1013294 1013294 T C TMEM259 Nonsynonymous SNV T185A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 166200 chr3 47163558 47163558 G T rs775705122 SETD2 Synonymous SNV I812I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.908 166201 chr4 55968597 55968597 G A rs34038364 KDR Nonsynonymous SNV T689M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.096 166202 chr3 49040004 49040004 G A rs142286241 P4HTM Synonymous SNV A233A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 166203 chr3 49051680 49051680 G C rs780371669 WDR6 Nonsynonymous SNV G848R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 166204 chr3 49161362 49161362 C T rs751242273 LAMB2 Nonsynonymous SNV R1199Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 166205 chr3 49311589 49311589 G - rs574629363 MIR4271 0 0 0.003 0 0 0 0 1 0 0 0 0 166206 chr19 38877713 38877713 G A GGN Synonymous SNV P63P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.806 166207 chr19 10657649 10657649 C T rs371300714 ATG4D Nonsynonymous SNV R147C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 166208 chr7 64864646 64864646 A G rs376555805 ZNF92 Nonsynonymous SNV E464G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.967 166209 chr3 49846852 49846852 G A rs11928913 UBA7 Nonsynonymous SNV P712S 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 166210 chr3 49933997 49933997 G A rs544189568 MST1R Synonymous SNV D699D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.153 166211 chr19 3907826 3907826 G A rs765746243 ATCAY Synonymous SNV G151G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.24 166212 chr3 5022054 5022054 C G BHLHE40 Synonymous SNV A73A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 166213 chr1 31194580 31194580 C T rs778488955 MATN1 Nonsynonymous SNV R38Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 166214 chr3 50374706 50374706 G A rs149932910 RASSF1 Synonymous SNV S15S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 166215 chr3 50379974 50379974 G A rs141055331 ZMYND10 Nonsynonymous SNV R238C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 166216 chr19 11280838 11280838 G A rs61734840 KANK2 Synonymous SNV N774N 0.003 0 0 0 3 0 0 0 0 0 0 0 6.088 166217 chr17 695107 695107 T C MRM3 Nonsynonymous SNV V158A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.6 166218 chr3 52485294 52485294 C T rs926673131 TNNC1 Synonymous SNV E161E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 166219 chr1 34180317 34180317 G A rs202180267 CSMD2 Synonymous SNV G1092G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 166220 chr19 13366032 13366032 G A rs150378053 CACNA1A Synonymous SNV T1545T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 7.922 166221 chr1 35227041 35227041 C T rs76188300 GJB4 Synonymous SNV N62N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 166222 chr7 91632410 91632410 C G AKAP9 Nonsynonymous SNV T1060S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.798 166223 chr1 35944609 35944609 T C rs34372241 KIAA0319L Nonsynonymous SNV T291A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 0.002 166224 chr7 92985347 92985347 T C rs148888740 VPS50 Synonymous SNV Y910Y 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 0.003 166225 chr7 94047050 94047050 G T rs1800238 COL1A2 Synonymous SNV V626V 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign 0.09 166226 chr3 58303598 58303598 T C HTD2 Synonymous SNV V86V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.86 166227 chr19 42584598 42584598 C T rs775594312 ZNF574 Nonsynonymous SNV R704C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 166228 chr17 9489149 9489149 G C rs755353746 CFAP52 Nonsynonymous SNV G44R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.9 166229 chr17 72954475 72954475 C T rs778617545 HID1 Nonsynonymous SNV V447M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 29.8 166230 chr3 7340375 7340375 A T rs150194225 GRM7 Synonymous SNV G247G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.54 166231 chr3 88108481 88108481 A C rs549133632 ZNF654 Nonsynonymous SNV E4D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 166232 chr8 77764519 77764519 G A rs200415399 ZFHX4 Nonsynonymous SNV V1788I 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 not provided 14.92 166233 chr5 68413096 68413096 G A rs143278272 SLC30A5 Nonsynonymous SNV V438M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 166234 chr3 96078864 96078864 G A rs1514422 MIR8060 0 0 0.068 0 0 0 0 20 0 0 2 0 7.357 166235 chr1 41979243 41979243 C T rs150644975 HIVEP3 Synonymous SNV P1883P 0.003 0.008 0.014 0 3 3 0 4 0 0 0 0 11.52 166236 chr18 24436328 24436328 T C rs72557972 AQP4 Synonymous SNV T246T 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 Benign 0.9 166237 chr3 98109529 98109529 C T rs80178587 OR5K3 Nonsynonymous SNV S7F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.6 166238 chr3 98109616 98109616 T C rs74627725 OR5K3 Nonsynonymous SNV L36P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.65 166239 chr3 98109722 98109722 C T rs79594054 OR5K3 Synonymous SNV S71S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.04 166240 chr17 73998473 73998473 G A rs145748425 CDK3 Nonsynonymous SNV V154M 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 28 166241 chr3 98110287 98110287 C T rs114784912 OR5K3 Nonsynonymous SNV P260S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.9 166242 chr3 98110363 98110363 C T rs140041184 OR5K3 Nonsynonymous SNV P285L 0 0 0.007 0 0 0 0 2 0 0 0 0 29.4 166243 chr3 98216681 98216681 T C rs1729959 OR5K2 Nonsynonymous SNV C53R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 166244 chr3 98216809 98216809 T C rs114759481 OR5K2 Synonymous SNV Y95Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 166245 chr3 9934626 9934626 G A rs763900045 JAGN1 Synonymous SNV K39K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 166246 chr19 17264841 17264841 C T rs188640121 MYO9B Nonsynonymous SNV L355F 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 27.6 166247 chr9 712674 712674 C T rs79835909 KANK1 Synonymous SNV D478D 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 10.78 166248 chr9 712766 712766 G A rs3824420 KANK1 Nonsynonymous SNV R509H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.179 166249 chr9 713307 713307 A G rs4742277 KANK1 Synonymous SNV E689E 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 8.144 166250 chr9 713452 713452 G C rs180806437 KANK1 Nonsynonymous SNV G738R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.48 166251 chr19 17397487 17397487 - TT ANKLE1 Frameshift insertion V587Lfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 166252 chr9 738434 738434 C T rs2296051 KANK1 Synonymous SNV N905N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 17.45 166253 chr18 32954042 32954042 C T rs141128029 ZNF396 Nonsynonymous SNV R72Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.866 166254 chr4 119952140 119952140 G C rs147039167 SYNPO2 Nonsynonymous SNV S737T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 166255 chr4 110772922 110772922 G T rs148810231 LRIT3 Nonsynonymous SNV D127Y 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Uncertain significance 26.3 166256 chr1 53580430 53580430 C T rs775909830 SLC1A7 Nonsynonymous SNV R144Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 166257 chr4 123747943 123747943 G C rs75664870 FGF2 Nonsynonymous SNV G5R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 166258 chr18 43490536 43490536 A G rs571870345 EPG5 Synonymous SNV S1385S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 2.299 166259 chr19 47223981 47223981 C T rs140848551 STRN4 Nonsynonymous SNV V721M 0.007 0.003 0 0 8 1 0 0 0 0 0 0 32 166260 chr19 47778505 47778505 C T rs751695042 INAFM1 Nonsynonymous SNV P110L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.89 166261 chr19 47987587 47987587 G C rs150630987 NAPA-AS1 0.006 0.003 0 0 7 1 0 0 0 0 0 0 7.081 166262 chr19 19015647 19015647 C A rs370664978 COPE Nonsynonymous SNV R120I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 166263 chr4 123868434 123868434 C T rs759111245 SPATA5 Nonsynonymous SNV P501L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 166264 chr19 19760586 19760586 A G rs746207194 ATP13A1 Synonymous SNV H833H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.014 166265 chr17 78363907 78363907 C T rs756292314 RNF213 Synonymous SNV D5127D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.31 166266 chr17 78399307 78399307 G A rs35929621 ENDOV Nonsynonymous SNV D156N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.9 166267 chr19 48685754 48685754 G T rs532129722 ZSWIM9 Synonymous SNV L106L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 15.43 166268 chr7 104546632 104546632 A T LHFPL3 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 166269 chr7 107708533 107708533 G T rs201764421 LAMB4 Nonsynonymous SNV P792T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.379 166270 chr7 108154911 108154911 T C rs138887728 PNPLA8 Nonsynonymous SNV E342G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.9 166271 chr7 108154913 108154913 C T rs541866899 PNPLA8 Synonymous SNV E341E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.96 166272 chr17 79516369 79516369 G A FAAP100 Synonymous SNV A422A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.54 166273 chr17 79662227 79662227 C T rs781239476 HGS Nonsynonymous SNV P385S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.651 166274 chr7 117368300 117368300 G A CTTNBP2 Nonsynonymous SNV P1282S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.37 166275 chr4 151504900 151504900 G A rs920010301 MAB21L2 Nonsynonymous SNV R240H 0 0 0.003 0 0 0 0 1 0 0 0 0 25 166276 chr5 115808773 115808773 C T SEMA6A Synonymous SNV L575L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.11 166277 chr18 67812974 67812974 A G rs200600259 RTTN Synonymous SNV S785S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.357 166278 chr17 81043057 81043057 C G METRNL Synonymous SNV P138P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 3.307 166279 chr7 130007270 130007270 C T rs142001870 CPA5 Nonsynonymous SNV S299L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28.3 166280 chr18 72344516 72344516 A G rs777035499 ZNF407 Nonsynonymous SNV H514R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.259 166281 chr19 51359599 51359599 C T rs144294681 KLK3 Synonymous SNV C50C 0.005 0.003 0 0 6 1 0 0 0 0 0 0 9.991 166282 chr4 159642601 159642601 G A rs142096418 PPID Synonymous SNV I40I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 166283 chr19 51526469 51526469 G A rs766741844 KLK11 Nonsynonymous SNV T160I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 7.854 166284 chr8 144941659 144941659 G A rs181215404 EPPK1 Synonymous SNV L1921L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 2.761 166285 chr19 51563757 51563757 G A rs200725984 KLK13 Nonsynonymous SNV R58W 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 25.9 166286 chr4 169305939 169305939 C G rs758147358 DDX60L Nonsynonymous SNV G1314R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 166287 chr19 36497813 36497813 G A SYNE4 Nonsynonymous SNV R153C 0.007 0 0 1 8 0 0.003 0 0 0 0 0 26.7 166288 chr19 52869734 52869734 C T rs1567002 ZNF610 Nonsynonymous SNV T325I 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 15.8 166289 chr4 183836206 183836206 G A rs35431896 DCTD Synonymous SNV G49G 0.004 0.008 0.007 5 5 3 0.013 2 0 0 0 0 10.86 166290 chr4 186283186 186283186 C T rs368020318 SNX25 Synonymous SNV T756T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.458 166291 chr19 38055570 38055570 G A rs780116456 ZNF571 Nonsynonymous SNV T587I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 166292 chr8 145742437 145742437 C T rs373085511 RECQL4 Synonymous SNV L117L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 7.444 166293 chr19 38126930 38126930 T G ZFP30 Nonsynonymous SNV Q171P 0.007 0 0 1 8 0 0.003 0 0 0 0 0 23.6 166294 chr5 140250047 140250047 G A rs181856615 PCDHA11 Synonymous SNV A453A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.327 166295 chr5 1294163 1294163 C T rs199701877 TERT Nonsynonymous SNV E280K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 0.034 166296 chr19 38379431 38379431 C G rs755582407 WDR87 Nonsynonymous SNV R1627P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 166297 chr19 10541677 10541677 G T PDE4A Nonsynonymous SNV A53S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 17.89 166298 chr4 1976712 1976712 C T rs73069117 NSD2 Synonymous SNV A1165A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.4 166299 chr5 140856347 140856347 C T rs201463036 PCDHGC3 Nonsynonymous SNV P222S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 166300 chr19 1082887 1082887 C T rs536773524 ARHGAP45 Synonymous SNV L491L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.1 166301 chr9 12694066 12694066 G A rs61758405 TYRP1 Nonsynonymous SNV A24T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.91 166302 chr4 2332682 2332682 G C rs143760404 ZFYVE28 Synonymous SNV T265T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.131 166303 chr19 1123962 1123962 G A rs368012878 SBNO2 Synonymous SNV T110T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.191 166304 chr18 43219779 43219779 G A SLC14A2 Synonymous SNV V304V 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 10.74 166305 chr4 2438704 2438704 A G rs17132548 CFAP99 Nonsynonymous SNV D72G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.933 166306 chr18 44146340 44146340 G A rs376186520 LOXHD1 Nonsynonymous SNV R773C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.9 166307 chr4 2597987 2597987 G A rs75151623 FAM193A Synonymous SNV L87L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 166308 chr9 117099371 117099371 C T rs776409662 AKNA Nonsynonymous SNV R1309H 0 0 0 3 0 0 0.008 0 0 0 0 0 25.8 166309 chr7 151896483 151896483 T C rs61730535 KMT2C Nonsynonymous SNV N1385S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 not provided 8.418 166310 chr4 3475210 3475210 G A rs199980106 DOK7 Nonsynonymous SNV E60K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 24.1 166311 chr9 35376074 35376074 C T rs762371782 UNC13B Nonsynonymous SNV S103L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 166312 chr19 4323050 4323050 C T rs143776863 FSD1 Synonymous SNV F369F 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 15.64 166313 chr5 154278838 154278838 C T rs200055716 GEMIN5 Nonsynonymous SNV R1015H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 166314 chr19 56423137 56423137 T G rs146831220 NLRP13 Nonsynonymous SNV K682N 0.009 0.005 0 2 10 2 0.005 0 0 0 0 0 1.409 166315 chr4 47765475 47765475 G A rs199725087 CORIN Nonsynonymous SNV R113C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 166316 chr4 4787280 4787280 A G rs560368028 LOC101928279 0 0 0.01 0 0 0 0 3 0 0 0 0 1.588 166317 chr4 48550803 48550803 T C FRYL Nonsynonymous SNV I1598V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 166318 chr4 48584739 48584739 A G rs534408572 FRYL Synonymous SNV H587H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.11 166319 chr19 17306161 17306161 G A rs542310624 MYO9B Nonsynonymous SNV A1309T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 166320 chr19 57066362 57066362 G C rs150863431 ZFP28 Nonsynonymous SNV K736N 0.009 0.005 0 1 10 2 0.003 0 0 0 0 0 24.6 166321 chr5 171295669 171295669 G C rs61739670 FBXW11 Synonymous SNV P499P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.379 166322 chr8 11689101 11689101 A G rs149474846 FDFT1 Synonymous SNV K151K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.829 166323 chr4 5743487 5743487 - A EVC Frameshift insertion K252Efs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 166324 chr20 31023916 31023916 C T rs367744979 ASXL1 Nonsynonymous SNV P1073L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.18 166325 chr8 12957375 12957375 T C rs369660947 DLC1 Nonsynonymous SNV N313S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.92 166326 chr19 57765546 57765546 A G rs779715867 ZNF805 Synonymous SNV K320K 0.006 0 0 0 7 0 0 0 0 0 0 0 0.155 166327 chr9 88193951 88193951 C T rs771592246 AGTPBP1 Nonsynonymous SNV V1128I 0.003 0 0 0 3 0 0 0 0 0 0 0 28.5 166328 chr4 68384039 68384039 T C rs370020579 CENPC Nonsynonymous SNV N222S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.001 166329 chr20 3340189 3340189 T C rs1044700779 C20orf194 Nonsynonymous SNV M222V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 166330 chr19 45385488 45385488 G A rs187706273 NECTIN2 Nonsynonymous SNV A355T 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 26.3 166331 chr19 1863059 1863059 C T KLF16 Synonymous SNV S146S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.74 166332 chr9 97062196 97062196 T C rs141402802 ZNF169 Nonsynonymous SNV I120T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 166333 chr9 97912326 97912326 G T rs377620735 FANCC Nonsynonymous SNV P189T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 166334 chr19 20727969 20727969 C T ZNF737 Nonsynonymous SNV G347D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 166335 chr9 99525482 99525482 G C ZNF510 Nonsynonymous SNV F28L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.072 166336 chr20 3781414 3781414 G A rs375465916 CDC25B Nonsynonymous SNV V98M 0 0.005 0 0 0 2 0 0 0 0 0 0 29.3 166337 chr5 80559382 80559382 G A rs141871322 CKMT2 Nonsynonymous SNV A363T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 166338 chr19 21300628 21300628 T C rs145827373 ZNF714 Synonymous SNV H386H 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 0.096 166339 chr4 77290721 77290721 C T rs202057639 CCDC158 Nonsynonymous SNV R402H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 166340 chr4 77661409 77661409 T C rs750388466 SHROOM3 Nonsynonymous SNV C695R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.845 166341 chr8 25325800 25325800 G C rs775050044 CDCA2 Synonymous SNV R187R 0 0.008 0 0 0 3 0 0 0 0 0 0 0.143 166342 chr19 48640902 48640902 G A rs4987069 LIG1 Synonymous SNV G309G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.438 166343 chr8 26372036 26372036 G A rs1016808698 DPYSL2 Synonymous SNV V65V 0 0.005 0 0 0 2 0 0 0 0 0 0 15.64 166344 chr19 49206727 49206727 G A rs1800025 FUT2 Nonsynonymous SNV D172N 0.003 0 0 0 4 0 0 0 0 0 0 0 22.4 166345 chr9 113198691 113198691 T C rs751371516 SVEP1 Nonsynonymous SNV N1578S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 166346 chr20 47558417 47558417 C T rs73113975 ARFGEF2 Nonsynonymous SNV P57S 0.007 0.013 0.014 4 8 5 0.01 4 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 166347 chr4 83905435 83905435 A G rs766169925 LIN54 Nonsynonymous SNV I188T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 166348 chr8 28633419 28633419 G A INTS9 Stop gain Q453X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 166349 chr19 49949670 49949670 A G PIH1D1 Nonsynonymous SNV V281A 0.003 0 0 0 3 0 0 0 0 0 0 0 28.1 166350 chr20 50408803 50408803 G T rs746985704 SALL4 Synonymous SNV V73V 0.006 0.008 0 0 7 3 0 0 0 0 0 0 2.521 166351 chr19 14184389 14184389 C G rs572316093 MISP3 Nonsynonymous SNV R90G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.921 166352 chr4 88537491 88537491 G A rs562146132 DSPP Nonsynonymous SNV S1226N 0.001 0 0.014 0 1 0 0 4 0 0 0 0 9.014 166353 chr4 88537492 88537492 C T rs746564839 DSPP Synonymous SNV S1226S 0.001 0 0.014 0 1 0 0 4 0 0 0 0 12.53 166354 chr4 88537495 88537495 C A DSPP Nonsynonymous SNV D1227E 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Uncertain significance 8.029 166355 chr4 88537501 88537501 T C rs112404065 DSPP Synonymous SNV S1229S 0.001 0 0.014 0 1 0 0 4 0 0 0 0 1.33 166356 chr4 88537509 88537509 A G rs111876111 DSPP Nonsynonymous SNV N1232S 0.001 0 0.014 0 1 0 0 4 0 0 0 0 0.02 166357 chr4 88537513 88537513 A C rs112275895 DSPP Nonsynonymous SNV E1233D 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.001 166358 chr8 41791550 41791550 G C KAT6A Nonsynonymous SNV H1396Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.801 166359 chr9 140392676 140392676 G C PNPLA7 Synonymous SNV T568T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.09 166360 chr6 25862146 25862146 T C SLC17A3 Nonsynonymous SNV T139A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 166361 chr10 3155576 3155576 G A rs537996415 PFKP Nonsynonymous SNV V197I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.75 166362 chr10 3161008 3161008 A G rs760126062 PFKP Nonsynonymous SNV T277A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.01 166363 chr8 70515440 70515440 G A rs140542311 SULF1 Nonsynonymous SNV V359I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.5 166364 chr19 16008417 16008417 G A rs144146357 CYP4F2 Nonsynonymous SNV S2F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.72 166365 chr5 112339748 112339748 G C DCP2 Nonsynonymous SNV E306Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26 166366 chr8 87424049 87424049 T C WWP1 Nonsynonymous SNV M336T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 166367 chr8 87520794 87520794 G A rs759329797 RMDN1 Nonsynonymous SNV P19L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.888 166368 chr10 8006709 8006709 A T TAF3 Synonymous SNV G412G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.014 166369 chr5 115338534 115338534 A C rs145746383 LVRN Nonsynonymous SNV D608A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 166370 chr20 61990917 61990917 C T rs200527878 CHRNA4 Nonsynonymous SNV A71T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25 166371 chr8 98289665 98289665 G A TSPYL5 Synonymous SNV P136P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.51 166372 chr5 140012176 140012176 G A rs372715155 CD14 Synonymous SNV T131T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.793 166373 chr10 17195525 17195525 A C TRDMT1 Synonymous SNV L271L 0 0 0 2 0 0 0.005 0 0 0 0 0 3.507 166374 chr19 39360875 39360875 G A rs1040050433 RINL Synonymous SNV C350C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.001 166375 chr5 140262867 140262867 G A rs781911340 PCDHA13 Synonymous SNV V338V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.215 166376 chr20 62407289 62407289 T C rs138883147 ZBTB46 Nonsynonymous SNV S322G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.19 166377 chr5 141024217 141024217 C G FCHSD1 Nonsynonymous SNV R522P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 166378 chr5 137537823 137537823 C T rs372131469 CDC23 Nonsynonymous SNV D132N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 166379 chr6 43475270 43475270 G A rs145858984 LRRC73 Synonymous SNV G268G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.85 166380 chr21 30324497 30324497 T C LTN1 Nonsynonymous SNV Y1096C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 27.2 166381 chr21 33744913 33744913 T C rs77293699 URB1 Nonsynonymous SNV M302V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.026 166382 chr21 34861300 34861300 C T rs201623013 DNAJC28 Nonsynonymous SNV R134Q 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 33 166383 chr21 34953804 34953804 C T rs750390868 DONSON Nonsynonymous SNV R385H 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 15.12 166384 chr21 35260600 35260600 C T rs145445183 ITSN1 Nonsynonymous SNV P1716L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 32 166385 chr5 140802530 140802530 C T rs372620011 PCDHGA11 Nonsynonymous SNV A579V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 166386 chr19 4355100 4355100 C T rs555051709 MPND Nonsynonymous SNV T309M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 166387 chr5 140855954 140855954 C G rs147660262 PCDHGC3 Nonsynonymous SNV R91G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 166388 chr9 136662892 136662892 G A rs199884667 VAV2 Synonymous SNV H287H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 11.33 166389 chr21 37618530 37618530 C G rs61752464 DOP1B Nonsynonymous SNV L1418V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 0.016 166390 chr8 140999002 140999002 G A rs28710457 TRAPPC9 Synonymous SNV T905T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign/Likely benign 10.57 166391 chr5 14712843 14712843 C T rs185979770 LOC100130744 0 0 0.007 0 0 0 0 2 0 0 0 0 3.961 166392 chr8 142202914 142202914 G A rs775095831 DENND3 Nonsynonymous SNV G1263D 0 0.005 0 0 0 2 0 0 0 0 0 0 2.016 166393 chr6 55922584 55922584 A G rs144408375 COL21A1 Synonymous SNV P313P 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 6.319 166394 chr9 139976474 139976474 G A rs750214097 UAP1L1 Synonymous SNV P463P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.87 166395 chr1 118617192 118617192 A C rs144705550 SPAG17 Nonsynonymous SNV D747E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 166396 chr10 61043141 61043141 C T rs756011263 FAM13C Nonsynonymous SNV D192N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 166397 chr9 140146894 140146894 G A rs369614998 STPG3 Nonsynonymous SNV G137S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 166398 chr5 150660625 150660625 C T SLC36A3 Stop gain W365X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 166399 chr1 12326980 12326980 C T rs749682179 VPS13D Nonsynonymous SNV S546L 0.005 0 0 0 6 0 0 0 0 0 0 0 29.1 166400 chr21 44476981 44476981 G A rs772344567 CBS, CBSL Nonsynonymous SNV T390M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.4 166401 chr1 12423147 12423147 G A VPS13D Nonsynonymous SNV G3406D 0.005 0 0 0 6 0 0 0 0 0 0 0 32 166402 chr10 64967728 64967728 G A JMJD1C Nonsynonymous SNV P1015L 0 0 0 2 0 0 0.005 0 0 0 0 0 28.6 166403 chr9 140469208 140469208 C T rs781057138 DPH7 Nonsynonymous SNV G155R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.3 166404 chr8 144997715 144997715 G A rs371501177 PLEC Nonsynonymous SNV R2114W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 166405 chr1 145528326 145528326 A G ITGA10 Nonsynonymous SNV D116G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 166406 chr1 145561730 145561730 T G rs139983363 ANKRD35 Nonsynonymous SNV V383G 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 0.002 166407 chr10 7618952 7618952 G A rs180863175 ITIH5 Nonsynonymous SNV P267L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 166408 chr21 47406965 47406965 C T rs139148709 COL6A1 Synonymous SNV I232I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.03 166409 chr5 162902565 162902565 G A rs371780704 HMMR Synonymous SNV E298E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.212 166410 chr21 47542026 47542026 A T COL6A2 Nonsynonymous SNV D509V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 166411 chr19 6754314 6754314 G A rs752846136 SH2D3A Nonsynonymous SNV A407V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.81 166412 chr8 146066927 146066927 C G rs147236224 ZNF7 Synonymous SNV G49G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.632 166413 chr1 152286965 152286965 T C rs145736320 FLG Nonsynonymous SNV N133D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.877 166414 chr5 172381909 172381909 C T LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 4.491 166415 chr5 176318141 176318141 C T rs776797141 HK3 Nonsynonymous SNV R104H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 166416 chr1 152975676 152975676 G - rs774552076 SPRR3 V61Sfs*139 0.001 0 0 0 1 0 0 0 0 0 0 0 166417 chr1 152975679 152975701 CCCTGAGCCAGGCTGTACCAAGG - rs754851121 SPRR3 Stop gain E63* 0.001 0 0 0 1 0 0 0 0 0 0 0 166418 chr10 82403793 82403793 C A SH2D4B Nonsynonymous SNV L296M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 27.1 166419 chr22 20119524 20119524 C G rs140980964 ZDHHC8 Synonymous SNV A18A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.89 166420 chr19 48997143 48997143 C T LMTK3 Synonymous SNV P1329P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 166421 chr10 85991750 85991750 C T rs375523621 LRIT1 Nonsynonymous SNV R602H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 166422 chr10 26243804 26243804 A C rs146511800 MYO3A Nonsynonymous SNV D57A 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 28.3 166423 chr19 49104408 49104408 C T rs369505013 FAM83E Synonymous SNV P465P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.2 166424 chr9 12694094 12694094 T C rs146838872 TYRP1 Nonsynonymous SNV V33A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.001 166425 chr22 20780521 20780521 T C SCARF2 Nonsynonymous SNV E586G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 166426 chr22 21799982 21799987 TCCCGA - rs772013110 HIC2 P267_D268del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 166427 chr6 10802246 10802246 C T rs746596336 MAK Nonsynonymous SNV R237H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 166428 chr10 29840123 29840123 G A rs753392001 SVIL Nonsynonymous SNV T77I 0.002 0 0 0 2 0 0 0 0 0 0 0 5.493 166429 chr1 156170059 156170059 C T rs142939086 SLC25A44 Nonsynonymous SNV R141C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 34 166430 chr10 31137567 31137567 C T rs41289001 ZNF438 Synonymous SNV V589V 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 13.51 166431 chr22 24086944 24086944 G A rs115780435 ZNF70 Synonymous SNV N128N 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 0.273 166432 chr10 95380492 95380492 T C PDE6C Nonsynonymous SNV M195T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 166433 chr22 24087118 24087118 G A rs116245440 ZNF70 Synonymous SNV C70C 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 5.629 166434 chr10 32745248 32745251 AAAG - CCDC7 E149Nfs*22 0.003 0 0 0 3 0 0 0 0 0 0 0 166435 chr5 19520769 19520769 G T rs369034653 CDH18 Synonymous SNV G503G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.193 166436 chr5 31431750 31431750 G A rs775162817 DROSHA Synonymous SNV H989H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 166437 chr22 26159253 26159253 T C rs200574321 MYO18B Nonsynonymous SNV V32A 0 0.005 0 0 0 2 0 0 0 0 0 0 25.6 166438 chr22 26422993 26422993 C T rs7290069 MYO18B Synonymous SNV C2352C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.77 166439 chr22 26423464 26423464 G A rs34068724 MYO18B Synonymous SNV S2509S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.68 166440 chr22 26688401 26688401 T C rs16981666 SEZ6L Synonymous SNV L42L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.049 166441 chr6 133119567 133119567 G C SLC18B1 Nonsynonymous SNV P10R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 166442 chr1 156910050 156910050 A G ARHGEF11 Nonsynonymous SNV F1188L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 166443 chr1 158153796 158153796 G T rs746937229 CD1D Synonymous SNV V226V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.572 166444 chr6 139097309 139097309 T G rs769385125 CCDC28A Nonsynonymous SNV C108G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.3 166445 chr6 139159609 139159609 C T rs199633256 ECT2L Synonymous SNV A100A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.24 166446 chr5 40852608 40852608 C T rs183932779 CARD6 Nonsynonymous SNV R392C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.16 166447 chr1 158641152 158641152 G A rs764672925 SPTA1 Nonsynonymous SNV A527V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 166448 chr6 26124839 26124839 G A rs199534800 H2AC6 Nonsynonymous SNV A127T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.4 166449 chr6 149395060 149395060 C T rs369320331 UST Synonymous SNV Y343Y 0.003 0 0 0 3 0 0 0 0 0 0 0 10.47 166450 chr9 72938446 72938446 G A rs59648118 SMC5 Nonsynonymous SNV R733Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 22.8 166451 chr5 473377 473377 G A rs541825112 SLC9A3-AS1 0.001 0.005 0.007 1 1 2 0.003 2 0 1 0 0 8.173 166452 chr1 159683453 159683453 C T CRP Nonsynonymous SNV M179I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 166453 chr1 160389175 160389175 C T rs145717286 VANGL2 Synonymous SNV L192L 0.004 0 0 0 5 0 0 0 0 0 0 0 12.41 166454 chr5 5239876 5239876 T C ADAMTS16 Synonymous SNV S787S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.53 166455 chr6 151670338 151670338 A G rs61757550 AKAP12 Nonsynonymous SNV E166G 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 Benign 13.02 166456 chr1 16070717 16070717 C G TMEM82 Nonsynonymous SNV C133W 0.005 0 0 0 6 0 0 0 0 0 0 0 26.8 166457 chr5 54459890 54459890 A G rs143602859 GPX8 Nonsynonymous SNV Q71R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.832 166458 chr5 61826553 61826553 A G rs199525156 IPO11 Nonsynonymous SNV N717S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 166459 chr5 633915 633915 G A rs62001013 CEP72 Nonsynonymous SNV A182T 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 0.004 166460 chr6 158514070 158514070 C A SYNJ2 Synonymous SNV L989L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.99 166461 chr5 64267562 64267562 G A rs140490454 CWC27 Nonsynonymous SNV E359K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 166462 chr1 16525657 16525657 A G rs148325785 ARHGEF19 Nonsynonymous SNV W747R 0.003 0.013 0.003 4 4 5 0.01 1 0 0 0 0 10.29 166463 chr10 71144155 71144155 G A rs548019222 HK1 Nonsynonymous SNV R514H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 166464 chr1 16736326 16736326 C T rs146259783 SPATA21 Synonymous SNV P96P 0.008 0 0 1 9 0 0.003 0 0 0 0 0 8.09 166465 chr9 96436081 96436081 G A rs193921057 PHF2 Nonsynonymous SNV D855N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.1 166466 chr10 116062157 116062157 G A rs138654102 AFAP1L2 Synonymous SNV Y457Y 0.002 0 0 1 2 0 0.003 0 1 0 0 0 8.144 166467 chr19 544105 544122 GCCCTGGGGGCCCTGTCA - rs763939483 GZMM A12_S17del 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 166468 chr6 161011996 161011996 G A rs201351461 LPA Nonsynonymous SNV S1256F 0.002 0 0 0 2 0 0 0 0 0 0 0 23 166469 chr6 41162173 41162173 G T rs770927652 TREML2 Nonsynonymous SNV P259T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.116 166470 chr6 41707546 41707546 C T rs769759922 PGC Synonymous SNV E302E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 3.447 166471 chr10 124214282 124214282 G A rs200123144 ARMS2 Synonymous SNV A13A 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 9.172 166472 chr1 174221633 174221633 T C rs753430453 RABGAP1L Synonymous SNV D260D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.621 166473 chr10 125651150 125651150 G A rs112027854 CPXM2 Nonsynonymous SNV P9L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.25 166474 chr19 55556646 55556646 G A rs200342088 RDH13 Synonymous SNV P264P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.772 166475 chr10 83635667 83635667 G C NRG3 Nonsynonymous SNV A191P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 166476 chr10 131959149 131959149 A G rs148460610 GLRX3 Synonymous SNV L122L 0 0 0 3 0 0 0.008 0 0 0 0 0 11.18 166477 chr7 1026835 1026835 G A rs58781963 CYP2W1 Synonymous SNV T304T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.631 166478 chr5 89913770 89913770 G A ADGRV1 Synonymous SNV Q119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.354 166479 chr7 1097733 1097733 C T rs137895227 GPR146 Synonymous SNV I194I 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 8.08 166480 chr9 114173305 114173305 G A rs186985951 ECPAS Nonsynonymous SNV L778F 0 0.005 0 0 0 2 0 0 0 0 0 0 4.991 166481 chr9 114296084 114296084 T A rs751069353 ZNF483 Synonymous SNV P189P 0 0.005 0 0 0 2 0 0 0 0 0 0 1.616 166482 chr19 55790903 55790903 C A rs140649061 HSPBP1 Nonsynonymous SNV G71V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 27.4 166483 chr10 90034737 90034737 G A rs148477675 RNLS Nonsynonymous SNV A310V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.295 166484 chr22 44587933 44587933 C G PARVG Nonsynonymous SNV T170S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 166485 chr22 44587970 44587970 G T PARVG Nonsynonymous SNV Q182H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.237 166486 chr5 94230377 94230377 G A rs146206373 MCTP1 Stop gain R339X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 166487 chr6 47650349 47650349 T C rs181503635 ADGRF2 Nonsynonymous SNV L685P 0.003 0.01 0.007 0 4 4 0 2 0 0 0 0 26.1 166488 chr5 95170733 95170733 G T rs114507729 LOC102724720 0 0 0.003 0 0 0 0 1 0 0 0 0 6.335 166489 chr6 49666150 49666150 C T CRISP2 Stop gain W114X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 166490 chr7 4823061 4823061 G A rs191971593 AP5Z1 Nonsynonymous SNV V5M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.953 166491 chr22 46746338 46746338 A T rs145817008 TRMU Nonsynonymous SNV H96L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 166492 chr1 11826627 11826627 C G rs549690629 C1orf167 Nonsynonymous SNV P262A 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 7.792 166493 chr1 11826861 11826861 A C rs188115585 C1orf167 Nonsynonymous SNV N340H 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 1.795 166494 chr22 50277493 50277493 C T rs375238670 ZBED4 Synonymous SNV L61L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.82 166495 chr1 11826908 11826908 - A rs554134504 C1orf167 Frameshift insertion S356Kfs*15 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 166496 chr1 11827309 11827309 C T rs140151828 C1orf167 Nonsynonymous SNV S444F 0.006 0.008 0 4 7 3 0.01 0 0 0 0 0 18.23 166497 chr6 105224672 105224672 A G rs146393808 HACE1 Nonsynonymous SNV I506T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 166498 chr6 108224066 108224066 C T rs771196902 SEC63 Synonymous SNV R397R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 166499 chr10 98173004 98173004 G A rs760570921 TLL2 Synonymous SNV R331R 0.004 0.008 0 0 5 3 0 0 0 0 0 0 10.86 166500 chr6 116264262 116264262 T C FRK Synonymous SNV K409K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.28 166501 chr22 50988254 50988254 G A rs779323462 KLHDC7B Synonymous SNV T1194T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.68 166502 chr6 116949359 116949359 G A rs117169123 RSPH4A Nonsynonymous SNV V497I 0.013 0.003 0.007 8 15 1 0.021 2 0 0 0 0 Benign/Likely benign 3.08 166503 chr19 5772958 5772960 CTT - CATSPERD F643del 0 0.003 0 0 0 1 0 0 0 0 0 0 166504 chr6 117710623 117710623 G A rs763487146 ROS1 Nonsynonymous SNV S550L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.491 166505 chr2 101667005 101667005 G A rs780603523 TBC1D8 Nonsynonymous SNV R229C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.9 166506 chr9 130259538 130259538 G A rs746831085 LRSAM1 Nonsynonymous SNV V613I 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 11.02 166507 chr7 27213101 27213101 G C rs576560374 HOXA10 Synonymous SNV P275P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.016 166508 chr6 90009563 90009563 A G rs35301635 GABRR2 Synonymous SNV L45L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.628 166509 chr6 90334352 90334352 C T rs770395763 ANKRD6 Nonsynonymous SNV S379L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.4 166510 chr6 90424463 90424463 G A rs777117877 MDN1 Nonsynonymous SNV L2290F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 166511 chr6 90428167 90428167 C T MDN1 Synonymous SNV T2167T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 166512 chr6 90432767 90432767 C T rs144754540 MDN1 Nonsynonymous SNV M1958I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 18.89 166513 chr19 6387503 6387503 C G GTF2F1 Nonsynonymous SNV D132H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 166514 chr19 54848722 54848722 C G rs55828618 LILRA4 Nonsynonymous SNV V301L 0.004 0.01 0.003 2 5 4 0.005 1 0 0 0 0 0.002 166515 chr7 34873889 34873889 T A rs151317529 NPSR1-AS1 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 6.375 166516 chr19 54964724 54964724 G C LENG8 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 166517 chr6 107040160 107040160 C A rs138679791 RTN4IP1 Nonsynonymous SNV D129Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 166518 chr1 153967614 153967614 G A NUP210L Nonsynonymous SNV S1658F 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 166519 chr2 120236464 120236464 C T SCTR Nonsynonymous SNV C75Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.7 166520 chr1 154125256 154125256 G A rs150389273 NUP210L Nonsynonymous SNV T99M 0.003 0 0 0 4 0 0 0 0 0 0 0 27.9 166521 chr10 116091633 116091633 G A rs769799619 AFAP1L2 Nonsynonymous SNV P82S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.043 166522 chr7 44152609 44152609 C T rs150005580 AEBP1 Synonymous SNV Y863Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.362 166523 chr19 55624058 55624058 A T rs139315383 PPP1R12C Nonsynonymous SNV S143T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 24.7 166524 chr11 1029527 1029527 G C rs201941345 MUC6 Synonymous SNV P368P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.68 166525 chr7 45128442 45128442 G A rs1041483780 NACAD Nonsynonymous SNV P18S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.882 166526 chr9 136265557 136265557 G A rs141819823 STKLD1 Synonymous SNV P366P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.6 166527 chr9 136339151 136339151 G A rs146306595 SLC2A6 Synonymous SNV A329A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.67 166528 chr6 126176322 126176322 A C NCOA7 Nonsynonymous SNV K69N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.39 166529 chr6 159653921 159653921 G A rs186422799 FNDC1 Nonsynonymous SNV D793N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.33 166530 chr1 21133836 21133836 T C rs146669269 EIF4G3 Synonymous SNV A1578A 0.005 0.003 0.003 9 6 1 0.023 1 0 0 0 0 0.486 166531 chr10 128192826 128192826 T C rs139034793 C10orf90 Nonsynonymous SNV I315V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.049 166532 chr9 139401216 139401216 C T rs756972680 NOTCH1 Nonsynonymous SNV V1285M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 34 166533 chr10 133976719 133976719 C T JAKMIP3 Synonymous SNV L667L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 166534 chr11 4471341 4471341 - TCATC rs765707394 OR52K2 Frameshift insertion V262Lfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 166535 chr6 147106801 147106801 C T ADGB Nonsynonymous SNV A1423V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.864 166536 chr6 169620369 169620369 G A rs138506061 THBS2 Synonymous SNV Y1145Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.833 166537 chr1 223177761 223177761 A G rs924869801 DISP1 Nonsynonymous SNV I1008V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 166538 chr9 140093908 140093908 G A rs149753507 TPRN Nonsynonymous SNV P419L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 25 166539 chr9 140109564 140109564 G A rs145912724 NDOR1 Synonymous SNV P327P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.116 166540 chr19 58879110 58879110 C G ZNF837 Synonymous SNV A530A 0.002 0.003 0 1 2 1 0.003 0 1 0 0 0 12.06 166541 chr11 5373454 5373454 T G OR51B6 Nonsynonymous SNV C239W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.4 166542 chr11 294308 294308 C T rs202214194 PGGHG Nonsynonymous SNV S617L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.9 166543 chr2 170359615 170359615 T C BBS5 Nonsynonymous SNV L276P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 166544 chr2 171627316 171627316 C T rs1014845801 ERICH2 Nonsynonymous SNV A42V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.08 166545 chr19 7152911 7152911 G A rs764741999 INSR Nonsynonymous SNV S686F 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 22.8 166546 chr1 165532914 165532914 C T rs368453603 LRRC52 Synonymous SNV L265L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 13.15 166547 chr11 582056 582056 G A rs117660271 PHRF1 Synonymous SNV E63E 0.003 0 0 0 4 0 0 0 0 0 0 0 4.4 166548 chr11 5758079 5758079 T G OR56B1 Stop gain Y111X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 36 166549 chr19 8321957 8321957 T C rs562890195 CERS4 Nonsynonymous SNV L246P 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 29 166550 chr2 179466443 179466443 G C rs200550947 TTN Nonsynonymous SNV S9393R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.53 166551 chr1 112020320 112020320 G A rs140103670 C1orf162 Nonsynonymous SNV V55I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.964 166552 chr1 173776565 173776565 T C rs199842348 CENPL Nonsynonymous SNV N87S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.572 166553 chr6 161470371 161470371 G A rs376034037 MAP3K4 Nonsynonymous SNV R356Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 166554 chr6 41162312 41162312 G A rs141822677 TREML2 Synonymous SNV T212T 0 0 0.007 0 0 0 0 2 0 0 0 0 8.051 166555 chr1 235850309 235850309 C T rs773942795 LYST Synonymous SNV L3580L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.83 166556 chr6 41708797 41708797 G A rs140934059 PGC Synonymous SNV S288S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.518 166557 chr1 236381824 236381824 T C rs61736438 ERO1B Nonsynonymous SNV S466G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 15.66 166558 chr1 113655368 113655368 C T rs762831744 LRIG2 Nonsynonymous SNV S689F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 166559 chr1 176564536 176564536 A C PAPPA2 Nonsynonymous SNV E599A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.2 166560 chr1 116666807 116666807 T C rs777850838 MAB21L3 Synonymous SNV L104L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 166561 chr1 117552696 117552696 C T rs148124881 CD101 Stop gain R90X 0 0.003 0.007 0 0 1 0 2 0 0 0 0 35 166562 chr1 11772461 11772461 C T rs61744690 DRAXIN Synonymous SNV C274C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.47 166563 chr6 46658366 46658366 C T TDRD6 Nonsynonymous SNV S834F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 166564 chr2 188368493 188368493 C G rs374666412 TFPI Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.015 166565 chr10 32558028 32558028 T C EPC1 Nonsynonymous SNV N802S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.684 166566 chr7 3990657 3990657 C T rs34775958 SDK1 Nonsynonymous SNV A317V 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Benign 29 166567 chr7 3998588 3998588 C T rs61735677 SDK1 Synonymous SNV P392P 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 Benign 15.12 166568 chr1 120306988 120306988 G A rs138170167 HMGCS2 Synonymous SNV D122D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.646 166569 chr1 120438295 120438295 T C rs41276634 ADAM30 Nonsynonymous SNV N222S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 166570 chr2 201950183 201950183 A T NDUFB3 Nonsynonymous SNV N48Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 166571 chr10 48389834 48389834 G A rs547601457 RBP3 Synonymous SNV P348P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 166572 chr1 100605746 100605748 TTC - TRMT13 S113del 0 0.003 0 0 0 1 0 0 0 0 0 0 166573 chr1 197021807 197021807 C T F13B Synonymous SNV Q504Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.5 166574 chr1 197111665 197111665 G A rs144049904 ASPM Nonsynonymous SNV R573W 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 166575 chr7 107626677 107626677 G C rs370325523 LAMB1 Synonymous SNV V185V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.55 166576 chr11 15247355 15247355 C T rs200762289 INSC Nonsynonymous SNV T342M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 34 166577 chr7 20823951 20823951 C T rs148247510 SP8 Synonymous SNV L495L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.52 166578 chr10 52008315 52008315 A T ASAH2 Nonsynonymous SNV M19K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 166579 chr7 115889224 115889224 A G TES Synonymous SNV K88K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.607 166580 chr10 55587274 55587274 G T rs765215862 PCDH15 Nonsynonymous SNV Q1345K 0 0.003 0 0 0 1 0 0 0 0 0 0 29 166581 chr6 80724235 80724235 A G TTK Nonsynonymous SNV E347G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.8 166582 chr7 127235552 127235552 T C rs146575754 FSCN3 Synonymous SNV S112S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.728 166583 chr1 201749586 201749586 G A rs753354868 NAV1 Nonsynonymous SNV D31N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 34 166584 chr7 127253513 127253513 G A rs141407429 PAX4 Synonymous SNV D212D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.019 166585 chr6 8430374 8430374 G A rs142783777 SLC35B3 Nonsynonymous SNV A7V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 166586 chr6 90395399 90395399 A G rs117641530 LOC101929057 0 0 0.007 0 0 0 0 2 0 0 0 0 4.176 166587 chr7 36194707 36194707 G A rs749365066 EEPD1 Synonymous SNV R258R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.893 166588 chr1 204587145 204587145 A G rs34771052 LRRN2 Nonsynonymous SNV V659A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 166589 chr7 100087171 100087171 C T rs141655359 NYAP1 Synonymous SNV I609I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 166590 chr7 138437467 138437467 A G rs140954628 ATP6V0A4 Nonsynonymous SNV M311T 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 22.3 166591 chr1 15684780 15684780 G A rs764051641 FHAD1 0 0.003 0 0 0 1 0 0 0 0 0 0 19.31 166592 chr1 207200895 207200895 T A rs41277164 C1orf116 Nonsynonymous SNV T17S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 166593 chr10 79565529 79565529 C T rs16935381 DLG5 Synonymous SNV R1686R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.85 166594 chr1 3328202 3328202 G A rs377240759 PRDM16 Nonsynonymous SNV A481T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.069 166595 chr10 81319238 81319238 A T rs758511248 SFTPA2 Star tloss M11K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 166596 chr1 209605646 209605648 AGC - MIR205HG 0.001 0 0 0 1 0 0 0 0 0 0 0 166597 chr1 158064145 158064145 G A KIRREL1 Nonsynonymous SNV D488N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.9 166598 chr7 142832330 142832330 C T rs547073010 PIP Nonsynonymous SNV R47C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.619 166599 chr1 3418428 3418428 G A rs200472001 MEGF6 Nonsynonymous SNV A749V 0.007 0.003 0.01 0 8 1 0 3 0 0 0 0 Likely benign 22.9 166600 chr1 15863283 15863283 A G rs370142117 DNAJC16 Nonsynonymous SNV E183G 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 166601 chr1 12836073 12836073 C G PRAMEF12 Stop gain Y225X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 166602 chr1 3670752 3670752 C T rs765796565 CCDC27 Nonsynonymous SNV T130M 0.005 0 0 0 6 0 0 0 0 0 0 0 0.004 166603 chr1 160000474 160000474 C A PIGM Nonsynonymous SNV M352I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.422 166604 chr7 149519634 149519634 C T rs376571507 SSPO 0.003 0 0 1 4 0 0.003 0 0 0 0 0 17.21 166605 chr1 16064449 16064449 C G rs376238856 SLC25A34 Nonsynonymous SNV T135R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 166606 chr7 150069291 150069291 G A rs6943851 REPIN1 Nonsynonymous SNV A321T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.067 166607 chr1 40961354 40961354 A G rs201949234 ZFP69 Nonsynonymous SNV I403V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.83 166608 chr1 41486150 41486150 C T rs145193833 SLFNL1 Synonymous SNV P61P 0.013 0.018 0.007 2 15 7 0.005 2 0 0 0 0 2.407 166609 chr1 151110510 151110510 G A rs139583127 SEMA6C Nonsynonymous SNV P207S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 21.3 166610 chr1 161753865 161753865 T C rs371492824 ATF6 Synonymous SNV Y111Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.1 166611 chr2 237105014 237105014 A G rs201438348 ASB18 Synonymous SNV C372C 0 0.005 0 0 0 2 0 0 0 0 0 0 0.005 166612 chr2 237253278 237253278 T A rs201316523 IQCA1 Synonymous SNV R585R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.142 166613 chr2 237396748 237396748 A C rs61754936 IQCA1 Synonymous SNV A181A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 166614 chr7 105655556 105655556 G A rs767624442 CDHR3 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 166615 chr1 226053660 226053660 C T rs142373258 TMEM63A Nonsynonymous SNV R228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 166616 chr7 107671300 107671300 G A rs145266740 LAMB4 Nonsynonymous SNV A1648V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 1.658 166617 chr1 45799121 45799121 G T rs121908380 MUTYH Stop gain Y90X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24.9 166618 chr10 105218008 105218008 G T CALHM1 Synonymous SNV G167G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.158 166619 chr1 228451885 228451885 G A rs370073774 OBSCN Nonsynonymous SNV A1552T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 166620 chr1 169761758 169761758 T A rs13375701 METTL18 Nonsynonymous SNV K360M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 166621 chr2 240078400 240078400 G A rs148880349 HDAC4 Synonymous SNV H227H 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.43 166622 chr1 170633544 170633544 G A rs74674242 PRRX1 Nonsynonymous SNV R62Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.3 166623 chr1 155735655 155735655 G C rs1018056255 GON4L Synonymous SNV V1203V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.439 166624 chr10 111640600 111640600 G A rs548425903 XPNPEP1 Synonymous SNV H263H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.27 166625 chr7 92731809 92731809 A C rs1031601806 SAMD9 Nonsynonymous SNV I1201R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 166626 chr7 122634954 122634954 G A TAS2R16 Synonymous SNV I245I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.2 166627 chr1 173772302 173772302 G A rs143910289 CENPL Synonymous SNV F254F 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 8.375 166628 chr7 99002500 99002500 C G PDAP1 Nonsynonymous SNV E30D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 166629 chr1 174959017 174959017 A G rs371193736 RABGAP1L Nonsynonymous SNV N214S 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 6.572 166630 chr7 100404066 100404066 C T rs138574211 EPHB4 Synonymous SNV P820P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.19 166631 chr10 115922495 115922495 T C rs143591180 CCDC186 Nonsynonymous SNV H178R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.892 166632 chr2 24300517 24300517 G C rs201865216 TP53I3 Nonsynonymous SNV P245R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.593 166633 chr1 23845589 23845589 A T rs56128752 E2F2 Synonymous SNV A257A 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 0.622 166634 chr1 56977723 56977723 G A rs747683599 PLPP3 Synonymous SNV R245R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 166635 chr10 123844894 123844894 G A rs112188313 TACC2 Nonsynonymous SNV R960K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.758 166636 chr7 138305862 138305862 G A rs564267291 SVOPL Nonsynonymous SNV R276C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 166637 chr2 26802271 26802272 AA - rs562180409 FAM166C K192Efs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 166638 chr1 18023530 18023530 G T ARHGEF10L Synonymous SNV L868L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.787 166639 chr1 18023540 18023540 A C ARHGEF10L Nonsynonymous SNV K872Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 166640 chr1 18023729 18023729 C T rs754242684 ARHGEF10L Nonsynonymous SNV R935C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 35 166641 chr8 22140685 22140685 A G rs140270682 PIWIL2 Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.636 166642 chr2 27657335 27657335 C T rs55665451 NRBP1 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 9.087 166643 chr2 27672571 27672571 C T rs147668131 IFT172 Nonsynonymous SNV E1383K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 166644 chr2 28521257 28521257 C T rs112441915 BABAM2 Synonymous SNV S329S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 18.9 166645 chr10 129676535 129676535 C T rs768006534 CLRN3 Nonsynonymous SNV V187I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.073 166646 chr8 24193085 24193085 G A rs148946378 ADAM28 Nonsynonymous SNV G500R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 26.8 166647 chr1 184863269 184863269 C T NIBAN1 Stop gain W86X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 166648 chr1 185267290 185267290 T G rs760372072 IVNS1ABP Synonymous SNV A602A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.249 166649 chr1 186024710 186024710 C A rs201628935 HMCN1 Nonsynonymous SNV L2350M 0.006 0.01 0.01 0 7 4 0 3 0 0 0 0 Likely benign 27 166650 chr10 134010607 134010622 TGCCGTGGGGCAGGGC - rs557478282 DPYSL4 0.002 0.005 0 0 2 2 0 0 0 0 0 0 166651 chr11 19251845 19251845 G A E2F8 Nonsynonymous SNV P434L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 166652 chr10 134699425 134699425 C T rs758731739 CFAP46 Nonsynonymous SNV G1115S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.85 166653 chr1 18809296 18809296 C T rs143137313 KLHDC7A Synonymous SNV P607P 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 11.3 166654 chr1 18809632 18809632 C G rs771007090 KLHDC7A Synonymous SNV A719A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.592 166655 chr1 192127827 192127828 TT - RGS18 F22Qfs*20 0.001 0.003 0 0 1 1 0 0 0 0 0 0 166656 chr7 149495202 149495202 C T rs373213872 SSPO 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.495 166657 chr11 60271218 60271218 C T MS4A12 Synonymous SNV A126A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 166658 chr10 135139396 135139396 C T rs140691452 CALY Nonsynonymous SNV A115T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 8.579 166659 chr1 78959187 78959187 G A rs746863911 PTGFR Synonymous SNV A253A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.088 166660 chr1 20082233 20082233 G A TMCO4 Nonsynonymous SNV L137F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 166661 chr11 34184124 34184124 C T ABTB2 Synonymous SNV L739L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.992 166662 chr1 169831931 169831931 C T rs56059077 SCYL3 Synonymous SNV A321A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 16.93 166663 chr1 201084059 201084059 G A rs534034158 ASCL5 Nonsynonymous SNV P148S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.05 166664 chr7 103197479 103197479 T C rs973154658 RELN Synonymous SNV P1914P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.318 166665 chr1 86581029 86581029 C T rs201701700 COL24A1 Synonymous SNV P508P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 166666 chr11 62433912 62433912 C T rs111425217 CSKMT Nonsynonymous SNV R38W 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.5 166667 chr1 86909646 86909646 C T rs146625394 CLCA2 Synonymous SNV T555T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 166668 chr8 65493664 65493664 G T rs13279074 BHLHE22 Nonsynonymous SNV G106V 0.009 0.013 0 0 11 5 0 0 1 0 0 0 23.5 166669 chr8 65493869 65493869 A T BHLHE22 Synonymous SNV G174G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 166670 chr7 15725894 15725896 GAA - rs746837361 MEOX2 S47del 0 0 0.003 0 0 0 0 1 0 0 0 0 166671 chr7 158437074 158437074 T A rs761647414 NCAPG2 Nonsynonymous SNV H1096L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 166672 chr7 111161438 111161438 C T rs148496605 IMMP2L Synonymous SNV A22A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 20.2 166673 chr1 89479798 89479798 T C rs143690907 GBP3 Nonsynonymous SNV E64G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 166674 chr1 27632690 27632690 C G rs140564293 WDTC1 Nonsynonymous SNV T617R 0.003 0 0 0 3 0 0 0 0 0 0 0 21.6 166675 chr1 28146227 28146227 G A rs755681038 STX12 Nonsynonymous SNV R239Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 166676 chr1 176759078 176759078 C A rs762875912 PAPPA2 Nonsynonymous SNV Q1617K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.35 166677 chr11 64054328 64054328 C T GPR137 Nonsynonymous SNV T111M 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 30 166678 chr1 28800120 28800120 C A rs370099764 PHACTR4 Nonsynonymous SNV P303H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.5 166679 chr7 21640756 21640756 C T rs79955190 DNAH11 Synonymous SNV S1128S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.81 166680 chr7 21698453 21698453 A G rs189432084 DNAH11 Nonsynonymous SNV Q1711R 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.062 166681 chr7 21781653 21781653 A G rs72657364 DNAH11 Nonsynonymous SNV I2675V 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 166682 chr8 100866243 100866243 G A rs139227281 VPS13B Synonymous SNV V3567V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.676 166683 chr1 34076667 34076667 C T rs142970674 CSMD2 Nonsynonymous SNV R2106Q 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 32 166684 chr1 207782770 207782770 T C CR1 Nonsynonymous SNV V1561A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.39 166685 chr7 27222517 27222517 G A rs115808703 HOXA11 Synonymous SNV L280L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign/Likely benign 7.165 166686 chr2 74757864 74757864 A G rs149169879 HTRA2 Synonymous SNV R209R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 0.15 166687 chr11 1018331 1018331 G A rs763299131 MUC6 Synonymous SNV L1490L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.728 166688 chr11 1018333 1018333 G C rs763858758 MUC6 Nonsynonymous SNV L1490V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.001 166689 chr2 75720440 75720440 G A rs746344001 EVA1A Synonymous SNV R127R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.25 166690 chr1 40035641 40035641 C G PABPC4 Synonymous SNV R179R 0.003 0 0 0 3 0 0 0 0 0 0 0 13.35 166691 chr20 17602418 17602418 T G RRBP1 Nonsynonymous SNV N1081H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 166692 chr20 18297325 18297325 G T rs139378991 ZNF133 Synonymous SNV T591T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.022 166693 chr8 125132012 125132012 G T rs185028572 FER1L6 Nonsynonymous SNV R1852M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 166694 chr7 141619011 141619011 C T rs73529456 OR9A4 Synonymous SNV F112F 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.55 166695 chr8 133899479 133899479 C T rs144254329 TG Nonsynonymous SNV T621M 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 13.22 166696 chr7 47344464 47344464 T C rs747449888 TNS3 Nonsynonymous SNV I930V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 166697 chr8 134232963 134232963 G A rs368562535 CCN4 Synonymous SNV P163P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.729 166698 chr11 4128745 4128745 A G rs905916997 RRM1 Nonsynonymous SNV I26V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.64 166699 chr3 10183630 10183630 G C rs912159589 VHL Synonymous SNV S33S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11 166700 chr3 10290952 10290952 G A rs148376271 TATDN2 Nonsynonymous SNV R23H 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 31 166701 chr20 2517926 2517926 G T rs137976202 TMC2 Nonsynonymous SNV V16L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 166702 chr3 10311918 10311918 C T rs117425597 TATDN2 Nonsynonymous SNV S351F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.21 166703 chr3 10334516 10334516 C T rs17032631 GHRLOS 0 0.003 0 0 0 1 0 0 0 0 0 0 8.565 166704 chr20 31021438 31021438 C G ASXL1 Synonymous SNV P418P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.155 166705 chr8 144641524 144641524 C A rs138605740 GSDMD Synonymous SNV R7R 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Likely benign 14.12 166706 chr11 78614514 78614514 - GCG rs530560272 TENM4 P182_L183insP 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 166707 chr7 150094743 150094743 G A ZNF775 Nonsynonymous SNV E392K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 166708 chr8 144689246 144689246 G A rs139057999 PYCR3 Synonymous SNV L71L 0.008 0.003 0 0 9 1 0 0 0 0 0 0 11.29 166709 chr1 206757864 206757864 C T RASSF5 Nonsynonymous SNV S126F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 166710 chr1 206858646 206858646 C A rs17041931 MAPKAPK2 Synonymous SNV P24P 0.003 0.005 0.003 3 3 2 0.008 1 1 0 0 1 9.755 166711 chr3 119156748 119156748 T C rs146106236 TMEM39A Nonsynonymous SNV T260A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.516 166712 chr20 36869132 36869132 G C rs141704693 KIAA1755 Synonymous SNV P467P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 166713 chr7 75187516 75187516 C T rs151135175 HIP1 Synonymous SNV E473E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 166714 chr1 208252652 208252652 C A rs201952593 PLXNA2 Nonsynonymous SNV D847Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 166715 chr20 37272508 37272508 C T rs200498977 ARHGAP40 Synonymous SNV A507A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.05 166716 chr8 145107946 145107946 C T rs777493207 OPLAH Synonymous SNV S986S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.125 166717 chr3 123633990 123633990 G A rs147561384 CCDC14 Nonsynonymous SNV S633F 0.003 0.008 0.014 2 3 3 0.005 4 0 0 0 0 23.1 166718 chr11 103114498 103114498 G A rs201263333 DYNC2H1 Nonsynonymous SNV R3299H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 166719 chr8 6605329 6605329 G A rs749579729 AGPAT5 Nonsynonymous SNV R242K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 166720 chr11 104819303 104819303 G A rs146648787 CASP4 Synonymous SNV T294T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.267 166721 chr7 94039589 94039589 C T rs752193830 COL1A2 Synonymous SNV S357S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.55 166722 chr20 45362406 45362406 G A rs573480396 SLC2A10 Nonsynonymous SNV S520N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.512 166723 chr11 6424894 6424894 G A APBB1 Nonsynonymous SNV P74S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 166724 chr11 111745667 111745667 G T FDXACB1 Nonsynonymous SNV H618Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.607 166725 chr3 126676385 126676385 C T rs771592437 CHCHD6 Synonymous SNV A232A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.75 166726 chr1 70505344 70505344 T C LRRC7 Synonymous SNV G1280G 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 0.001 166727 chr20 47858697 47858697 C T rs749673809 DDX27 Synonymous SNV A721A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.51 166728 chr1 74936863 74936863 G A rs142694240 LRRC53 Nonsynonymous SNV R815C 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.3 166729 chr3 129279206 129279206 C T rs769609009 PLXND1 Synonymous SNV P1700P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.05 166730 chr3 129305473 129305473 G C rs142772519 PLXND1 Nonsynonymous SNV D526E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 166731 chr11 64060618 64060618 G T rs150371580 KCNK4 Nonsynonymous SNV R43L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.6 166732 chr8 10466187 10466187 G C rs77593247 RP1L1 Synonymous SNV G1807G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.273 166733 chr8 10467279 10467279 G A rs200467277 RP1L1 Synonymous SNV P1443P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.756 166734 chr20 54573766 54573766 C G CBLN4 Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 166735 chr1 247473006 247473006 T C rs770379051 ZNF496 Nonsynonymous SNV Y296C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 166736 chr11 119169162 119169162 G A rs762655460 CBL Synonymous SNV P782P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.81 166737 chr1 89427095 89427095 A G rs148773156 KYAT3 Nonsynonymous SNV I178T 0.003 0 0 0 3 0 0 0 0 0 0 0 27.8 166738 chr8 22481873 22481873 G A rs778303703 BIN3 Synonymous SNV F66F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 166739 chr9 34343179 34343179 A - rs529087882 NUDT2 A63Qfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 166740 chr3 138176471 138176471 T C ESYT3 Nonsynonymous SNV V189A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 166741 chr1 914814 914814 A G rs564850458 PERM1 Synonymous SNV T532T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.04 166742 chr1 2560841 2560841 C A rs780812154 MMEL1 Nonsynonymous SNV G28V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.49 166743 chr9 74312933 74312933 T C rs201694886 CEMIP2 Nonsynonymous SNV T1126A 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 6.231 166744 chr9 74817586 74817586 C G rs61758972 GDA Synonymous SNV T104T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.461 166745 chr11 68456346 68456346 A G rs145825008 GAL Nonsynonymous SNV N85D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 0.178 166746 chr1 989207 989207 G C rs74685771 AGRN Nonsynonymous SNV S1909T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 14.59 166747 chr9 90498940 90498940 A C SPATA31E1 Synonymous SNV R115R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 166748 chr1 28586376 28586376 C T rs34315986 SESN2 Synonymous SNV S6S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.36 166749 chr1 236157033 236157033 G A rs201356535 NID1 Synonymous SNV C889C 0.005 0.005 0.024 1 6 2 0.003 7 0 0 0 0 Benign 11.53 166750 chr11 131240779 131240779 C G NTM Nonsynonymous SNV F26L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.33 166751 chr8 38854627 38854627 G T rs758941052 ADAM9 Synonymous SNV R15R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.592 166752 chr8 39111978 39111978 C T rs1021850339 ADAM32 Nonsynonymous SNV P551S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 166753 chr11 72145250 72145250 C T rs762324677 CLPB Nonsynonymous SNV R90H 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 12.37 166754 chr11 32118709 32118709 G A rs144307253 RCN1 Nonsynonymous SNV D92N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 166755 chr11 32632739 32632739 G A CCDC73 Nonsynonymous SNV P990L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.4 166756 chr8 143746722 143746722 G A rs60195180 JRK Synonymous SNV V252V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.449 166757 chr21 15893519 15893519 G A rs192978628 SAMSN1 Synonymous SNV F27F 0.004 0 0 0 5 0 0 0 0 0 0 0 14.82 166758 chr8 143809028 143809028 C T rs782751467 THEM6 Synonymous SNV L88L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.13 166759 chr11 74015450 74015450 C T rs771301612 P4HA3 Nonsynonymous SNV D70N 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 11.62 166760 chr3 172428729 172428729 C T rs138242499 NCEH1 Nonsynonymous SNV A16T 0.01 0.005 0.007 5 12 2 0.013 2 0 0 0 0 Benign 32 166761 chr8 144653862 144653862 G C rs879585388 MROH6 Nonsynonymous SNV L193V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 166762 chr12 3701467 3701467 G T rs71534238 PRMT8 Nonsynonymous SNV R341S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.49 166763 chr8 144773839 144773839 G A rs562090502 ZNF707 Nonsynonymous SNV R35Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.619 166764 chr3 183753827 183753827 A C HTR3D Nonsynonymous SNV I46L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.237 166765 chr1 36563518 36563518 C T rs140015576 COL8A2 Synonymous SNV S523S 0.001 0.005 0.007 3 1 2 0.008 2 0 0 0 0 14.18 166766 chr1 39910489 39910489 T A rs765988252 MACF1 Nonsynonymous SNV S4470R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 166767 chr11 88911917 88911917 G A rs34297847 TYR Nonsynonymous SNV A266T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23 166768 chr11 92258089 92258089 T A rs531927047 FAT3 Nonsynonymous SNV N1194K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.4 166769 chr3 186358336 186358336 G A rs150536363 FETUB Synonymous SNV S29S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.838 166770 chr20 25205826 25205826 G A rs142821004 ENTPD6 Synonymous SNV T206T 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 1.854 166771 chr11 93431246 93431246 T C rs773182038 CEP295 Synonymous SNV S1056S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.265 166772 chr8 145557439 145557439 C T SCRT1 Nonsynonymous SNV G152E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.277 166773 chr1 41289807 41289807 G A rs529372797 KCNQ4 Nonsynonymous SNV R390H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 166774 chr21 40800133 40800133 T G rs199978543 LCA5L Nonsynonymous SNV K96T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.73 166775 chr3 187003788 187003788 G T rs1062049 MASP1 Nonsynonymous SNV T21N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 166776 chr20 30227741 30227741 G C rs148327783 COX4I2 Nonsynonymous SNV G30R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.707 166777 chr8 103306062 103306062 G T UBR5 Nonsynonymous SNV P1454T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 166778 chr8 17067959 17067959 C G rs190630185 ZDHHC2 Nonsynonymous SNV T262S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.157 166779 chr8 1719594 1719594 A G rs142269885 CLN8 Nonsynonymous SNV N125S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 166780 chr9 117810735 117810735 C T rs375198797 TNC Synonymous SNV S1552S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.6 166781 chr1 45480167 45480167 G A rs143180539 UROD Synonymous SNV K231K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.632 166782 chr1 45798475 45798475 T C rs34612342 MUTYH Nonsynonymous SNV Y36C 0 0.005 0 0 0 2 0 0 0 0 0 0 Pathogenic/Likely pathogenic 24.7 166783 chr20 32194877 32194877 G A rs372667109 CBFA2T2 Synonymous SNV P50P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.08 166784 chr11 48387938 48387938 A C OR4C5 Nonsynonymous SNV V27G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.004 166785 chr21 45222197 45222197 G A rs559589580 RRP1 Nonsynonymous SNV R351H 0.003 0 0 0 4 0 0 0 0 0 0 0 9.716 166786 chr20 33855058 33855058 G A rs52833951 MMP24 Nonsynonymous SNV V344I 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 21.2 166787 chr8 19363264 19363264 C T rs140433683 CSGALNACT1 Nonsynonymous SNV V28I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.973 166788 chr1 25256278 25256278 - GCC rs532454563 RUNX3 G27_K28insG 0 0.003 0 0 0 1 0 0 0 0 0 0 166789 chr21 45668975 45668975 G A DNMT3L Nonsynonymous SNV P310L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 166790 chr8 22006347 22006347 G A rs781148143 LGI3 Nonsynonymous SNV R325C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 166791 chr3 31871715 31871715 T C rs143729137 OSBPL10 Synonymous SNV P182P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.041 166792 chr1 27272654 27272654 C T rs199919690 NUDC Synonymous SNV S326S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.4 166793 chr3 33161921 33161921 C T CRTAP Nonsynonymous SNV A186V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 166794 chr20 3897695 3897695 - TT PANK2 Frameshift insertion E76Vfs*14 0.003 0 0 0 3 0 0 0 0 0 0 0 166795 chr1 27695877 27695877 G A rs28385652 FCN3 Synonymous SNV H239H 0.003 0.008 0.01 1 4 3 0.003 3 0 0 0 0 Benign 5.957 166796 chr3 33907915 33907915 A G rs61751641 PDCD6IP Synonymous SNV P840P 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 0.54 166797 chr8 27146729 27146729 C T TRIM35 Nonsynonymous SNV G285D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 166798 chr9 130166017 130166017 C T rs41276194 SLC2A8 Stop gain Q105X 0.009 0.003 0.003 0 10 1 0 1 0 0 0 0 39 166799 chr8 141461428 141461428 C T rs752416635 TRAPPC9 Synonymous SNV T15T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.04 166800 chr8 33310904 33310904 G T rs764015075 FUT10 Nonsynonymous SNV T69N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.04 166801 chr8 33371077 33371077 G T rs371537521 SNORD13 0 0 0.007 0 0 0 0 2 0 0 0 0 8.828 166802 chr1 5923427 5923427 A T rs35641267 NPHP4 Nonsynonymous SNV F881L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 166803 chr9 131812176 131812176 C T rs17508321 MIGA2 Synonymous SNV S203S 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign 12.73 166804 chr11 122650306 122650306 G A rs11218807 UBASH3B Synonymous SNV T133T 0.003 0 0 0 3 0 0 0 0 0 0 0 15.51 166805 chr11 122726491 122726491 G A rs35561350 CRTAM Synonymous SNV T193T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.35 166806 chr1 36563536 36563536 G A rs149090218 COL8A2 Synonymous SNV T517T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 3.614 166807 chr11 122805430 122805430 A G rs34439413 JHY Synonymous SNV S389S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.523 166808 chr11 122805606 122805606 A G rs33999612 JHY Nonsynonymous SNV H448R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.34 166809 chr11 122830085 122830085 A C rs114655120 JHY Nonsynonymous SNV I730L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.12 166810 chr3 43607182 43607182 A G ANO10 Nonsynonymous SNV I308T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 166811 chr8 54141992 54141992 G A rs77985794 OPRK1 Synonymous SNV N336N 0 0 0.007 0 0 0 0 2 0 0 0 0 5.606 166812 chr8 54684647 54684647 C T rs377454954 ATP6V1H Synonymous SNV Q299Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 166813 chr1 39853204 39853204 G A rs617368 MACF1 Nonsynonymous SNV R2835K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.249 166814 chr20 5283062 5283062 G A rs370738961 PROKR2 Nonsynonymous SNV T260M 0.003 0 0 0 4 0 0 0 0 0 0 0 26.4 166815 chr8 56699157 56699157 A G rs750459473 TGS1 Nonsynonymous SNV K141E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 166816 chr9 135546312 135546312 G T rs758351457 GTF3C4 Synonymous SNV V109V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.781 166817 chr12 51117043 51117043 C T rs377207504 DIP2B Synonymous SNV T1075T 0.003 0 0 4 3 0 0.01 0 0 0 0 0 12.12 166818 chr8 72877684 72877684 C A rs777817847 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.801 166819 chr3 48508366 48508366 G C rs56162833 TREX1 Synonymous SNV L94L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.773 166820 chr3 48716823 48716823 G A rs140493957 NCKIPSD Synonymous SNV P519P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.026 166821 chr8 145625080 145625080 C T rs199634112 CPSF1 Synonymous SNV G380G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 166822 chr3 48723234 48723234 G A rs762188134 NCKIPSD Nonsynonymous SNV R3C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 166823 chr20 6021946 6021946 C T rs761086841 LRRN4 Nonsynonymous SNV V649M 0.003 0 0 0 3 0 0 0 0 0 0 0 32 166824 chr8 145736439 145736439 C T rs201216756 MFSD3 Synonymous SNV A377A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.78 166825 chr1 78191353 78191353 A G rs150199946 USP33 Synonymous SNV P410P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.415 166826 chr1 79102744 79102744 G C rs780492495 IFI44L Nonsynonymous SNV E302Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.066 166827 chr11 130332436 130332436 G A rs376372695 ADAMTS15 Nonsynonymous SNV E435K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 166828 chr8 146156709 146156709 C T rs149970563 ZNF16 Synonymous SNV P488P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.234 166829 chr9 139743999 139743999 G C rs149603224 PHPT1 Nonsynonymous SNV E39D 0.007 0.008 0.003 3 8 3 0.008 1 0 0 0 0 Likely benign 0.62 166830 chr8 95384492 95384492 T C rs116312454 RAD54B Nonsynonymous SNV D696G 0.006 0.005 0.003 4 7 2 0.01 1 0 0 0 0 Likely benign 18.58 166831 chr8 98290055 98290055 C T rs773510457 TSPYL5 Synonymous SNV R6R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.7 166832 chr9 3879437 3879437 C T rs368243649 GLIS3 Nonsynonymous SNV G608R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 166833 chr9 5081820 5081820 T C rs368688124 JAK2 Nonsynonymous SNV F695L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 166834 chr9 100667089 100667089 G A TRMO Synonymous SNV L418L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.44 166835 chr11 61643611 61643611 C T FADS3 Nonsynonymous SNV G378R 0 0.003 0 0 0 1 0 0 0 0 0 0 35 166836 chr9 140147691 140147691 G A rs754432976 STPG3 Nonsynonymous SNV A313T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 166837 chr9 102713569 102713569 T C STX17 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 166838 chr9 103046826 103046826 T C rs762112247 INVS Nonsynonymous SNV L344P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.222 166839 chr1 48937645 48937645 C T rs760429304 SPATA6 Synonymous SNV A12A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 166840 chr3 54952522 54952522 C T rs535208353 LRTM1 Synonymous SNV V258V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.095 166841 chr11 62343448 62343448 G A rs149023986 TUT1 Synonymous SNV R581R 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 11.26 166842 chr9 107267381 107267381 G A rs142994537 OR13F1 Nonsynonymous SNV G280R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 166843 chr11 62886532 62886532 G A rs765203877 SLC22A24 Nonsynonymous SNV R228W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.1 166844 chr3 58110119 58110119 G C rs111330368 FLNB Nonsynonymous SNV G1262A 0.001 0.01 0.01 3 1 4 0.008 3 0 0 1 0 Benign/Likely benign 25 166845 chr12 54902260 54902260 C T rs749529749 NCKAP1L Nonsynonymous SNV R101W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 166846 chr9 111659543 111659543 T C rs748482757 ELP1 Nonsynonymous SNV M447V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 166847 chr3 69106444 69106444 G A rs779588898 UBA3 Synonymous SNV I268I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.98 166848 chr22 38531001 38531001 G A rs201078358 PLA2G6 Synonymous SNV N70N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.191 166849 chr11 64594766 64594766 - CTGCTCCTC CDC42BPG Q1418_Q1419insEEQ 0.003 0.005 0 0 4 2 0 0 0 0 0 0 166850 chr11 64811854 64811854 C T rs376407450 SAC3D1 Synonymous SNV C244C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.45 166851 chr22 40391173 40391173 G A rs918327880 FAM83F Nonsynonymous SNV E43K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.7 166852 chr9 116794933 116794933 G A rs371311524 ZNF618 Nonsynonymous SNV A332T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 166853 chr12 57424886 57424886 C T rs769645609 MYO1A Nonsynonymous SNV A808T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.04 166854 chr12 57971509 57971509 C T KIF5A Stop gain R683X 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 49 166855 chr10 14950593 14950593 G A rs41300676 DCLRE1C Synonymous SNV P516P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 2.087 166856 chr1 99203895 99203895 A T rs1053095426 SNX7 Stop gain K355X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 166857 chr9 37707534 37707534 G A rs747829777 FRMPD1 Nonsynonymous SNV E75K 0.002 0 0 0 2 0 0 0 0 0 0 0 24 166858 chr9 117822072 117822072 C T rs141482844 TNC Nonsynonymous SNV V1415I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 166859 chr9 37737218 37737218 G A rs72724147 FRMPD1 Synonymous SNV A509A 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 11.69 166860 chr12 10046064 10046064 G T KLRF2 Nonsynonymous SNV G135C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 166861 chr22 43972232 43972232 G T rs557007857 EFCAB6 Nonsynonymous SNV T970N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 166862 chr9 75366857 75366857 C T rs748580616 TMC1 Synonymous SNV L209L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.98 166863 chr1 68171235 68171235 T C rs147603186 GNG12 Nonsynonymous SNV M40V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.39 166864 chr9 78910272 78910272 T C PCSK5 Synonymous SNV C1089C 0.002 0 0 0 2 0 0 0 0 0 0 0 3.189 166865 chr9 79910595 79910595 C A rs138687767 VPS13A Synonymous SNV A1176A 0.01 0.005 0 2 12 2 0.005 0 0 0 0 0 Benign 18.53 166866 chr9 80046281 80046281 G A rs61755086 GNA14 Synonymous SNV T183T 0.009 0.005 0 1 11 2 0.003 0 0 0 0 0 Benign 14.4 166867 chr9 82335161 82335161 C T rs61112339 TLE4 Synonymous SNV S503S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13 166868 chr10 28903607 28903607 C T rs779103933 WAC Nonsynonymous SNV R414C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 166869 chr4 114158769 114158769 G A rs376024223 ANK2 Synonymous SNV R228R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.05 166870 chr1 78958863 78958863 G A rs12088246 PTGFR Synonymous SNV T145T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 9.102 166871 chr1 78959081 78959081 T C rs115994459 PTGFR Nonsynonymous SNV L218S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 19.9 166872 chr20 23029378 23029378 G T THBD Nonsynonymous SNV A255E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.215 166873 chr20 23345871 23345871 C T rs143775476 GZF1 Nonsynonymous SNV A284V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.073 166874 chr4 120460116 120460116 G A rs142017762 PDE5A Nonsynonymous SNV A544V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 166875 chr11 74547092 74547092 A G rs778261448 RNF169 Nonsynonymous SNV T482A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 166876 chr9 13107092 13107092 C T rs150393677 MPDZ Nonsynonymous SNV G1967R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 35 166877 chr9 131095872 131095872 G A rs979977296 COQ4 Nonsynonymous SNV R249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 166878 chr10 45423400 45423400 C T TMEM72 Synonymous SNV L34L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 14.48 166879 chr20 25257359 25257359 C T rs200423855 PYGB Synonymous SNV S246S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.92 166880 chr9 98775157 98775157 C T rs779541063 ERCC6L2 Nonsynonymous SNV T1453I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 166881 chr9 100245536 100245536 G A rs762032394 TDRD7 Nonsynonymous SNV V866I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 166882 chr20 30497662 30497662 C T rs761255147 TTLL9 Synonymous SNV C147C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.643 166883 chr1 87716318 87716318 G A rs1021556764 LINC02801 Nonsynonymous SNV R53Q 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 3.355 166884 chr20 3129314 3129314 T G FASTKD5 Nonsynonymous SNV T135P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 166885 chr2 100055166 100055166 C T rs774589573 REV1 Synonymous SNV E370E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 166886 chr20 33264875 33264875 C G rs371637416 PIGU Nonsynonymous SNV L5F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.47 166887 chr4 144620398 144620398 T C rs757490702 FREM3 Synonymous SNV R477R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.286 166888 chr11 92590475 92590475 C G rs780247621 FAT3 Nonsynonymous SNV L3821V 0 0.003 0 0 0 1 0 0 0 0 0 0 15 166889 chr4 148594151 148594151 C T rs145578256 PRMT9 Synonymous SNV T121T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.74 166890 chr21 47676811 47676811 C T rs753539947 MCM3AP Nonsynonymous SNV R1275Q 0.003 0 0 0 3 0 0 0 0 0 0 0 17.88 166891 chr9 136263109 136263109 G A STKLD1 Synonymous SNV Q336Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.609 166892 chr12 111087999 111087999 G T rs767328878 HVCN1 Nonsynonymous SNV H224N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 166893 chr9 136338603 136338603 G A rs147837646 SLC2A6 Nonsynonymous SNV P386S 0 0 0.01 0 0 0 0 3 0 0 0 0 13.98 166894 chr9 136521328 136521328 G A rs146031372 DBH-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 2.269 166895 chr22 17622024 17622024 G A HDHD5 Nonsynonymous SNV T194I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.477 166896 chr10 64968285 64968285 A C JMJD1C Nonsynonymous SNV N829K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Uncertain significance 6.626 166897 chr12 49391586 49391586 G C rs61552095 DDN Nonsynonymous SNV P358R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 24.3 166898 chr1 99730100 99730100 C T rs35285687 PLPPR4 Nonsynonymous SNV A32V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24 166899 chr12 49717439 49717439 T A rs372171567 TROAP Synonymous SNV S16S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.649 166900 chr12 50045987 50045987 A G rs7978381 FMNL3 Synonymous SNV Y393Y 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.008 166901 chr2 120005755 120005755 C T rs372138614 STEAP3 Synonymous SNV Y331Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 10.3 166902 chr20 13755916 13755916 T C rs140484254 ESF1 Nonsynonymous SNV I346V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 166903 chr4 169196502 169196502 T C rs139888899 DDX60 Synonymous SNV T766T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.175 166904 chr9 117044825 117044825 G A rs748351189 COL27A1 Nonsynonymous SNV R1287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 166905 chr22 21134067 21134067 T C rs116401176 SERPIND1 Nonsynonymous SNV V156A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 22.7 166906 chr11 112131183 112131183 T G PLET1 Nonsynonymous SNV T44P 0 0.005 0 0 0 2 0 0 0 0 0 0 11.15 166907 chr20 44697194 44697194 T C rs751397647 NCOA5 Nonsynonymous SNV D45G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 166908 chr10 72298097 72298097 G A rs762569235 PALD1 Nonsynonymous SNV R462H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 166909 chr20 45170558 45170558 G A OCSTAMP Synonymous SNV Y352Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.645 166910 chr4 170912733 170912733 A G rs779021045 MFAP3L Synonymous SNV D239D 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.002 166911 chr2 128262782 128262782 G C rs749359752 IWS1 Nonsynonymous SNV Q233E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 166912 chr12 52599847 52599847 C T rs77019613 C12orf80 0.006 0.003 0 0 7 1 0 0 0 0 0 0 11.02 166913 chr9 140247193 140247193 G A rs190908589 EXD3 Synonymous SNV L306L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.347 166914 chr9 120476597 120476597 C T rs201670644 TLR4 Stop gain R531X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 166915 chr2 131130767 131130767 G A PTPN18 Synonymous SNV R344R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.606 166916 chr12 52822464 52822464 T C rs2232402 KRT75 Nonsynonymous SNV I367V 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 Benign 24.3 166917 chr20 20243679 20243679 C T rs780255308 CFAP61 Nonsynonymous SNV T803M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 166918 chr20 55982858 55982858 G C rs16980970 RBM38 Nonsynonymous SNV V226L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.49 166919 chr12 53183911 53183911 C T rs192685142 KRT3 Nonsynonymous SNV G601D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.64 166920 chr12 53215779 53215779 C T rs74096642 KRT79 Synonymous SNV G495G 0.007 0.003 0 0 8 1 0 0 0 0 0 0 11.42 166921 chr20 56191351 56191351 C T rs34964609 ZBP1 Nonsynonymous SNV G70R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.84 166922 chr2 143799733 143799733 A G KYNU Nonsynonymous SNV K464E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 166923 chr4 187540610 187540610 G A rs201363601 FAT1 Nonsynonymous SNV T2377M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.8 166924 chr9 128117053 128117053 C T rs997073405 GAPVD1 Synonymous SNV Y1203Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 166925 chr12 53586198 53586198 G T rs2230397 ITGB7 Synonymous SNV R691R 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 7.369 166926 chr12 53647351 53647351 G T rs36054910 MFSD5 Synonymous SNV L351L 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.471 166927 chr9 130160358 130160358 C T rs113005748 SLC2A8 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 166928 chr2 15417025 15417025 T A NBAS Nonsynonymous SNV K1780I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 166929 chr10 90580023 90580023 C T rs61735049 LIPM Nonsynonymous SNV T346M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.72 166930 chr2 159481790 159481790 C T PKP4 Nonsynonymous SNV S335L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 166931 chr12 53876570 53876570 C T rs55794887 MAP3K12 Nonsynonymous SNV G673S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Benign 15.44 166932 chr20 31671560 31671560 G A rs200543830 BPIFB4 Nonsynonymous SNV G186D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 166933 chr9 130605472 130605472 G A rs41522944 ENG Synonymous SNV G40G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 13.32 166934 chr9 36091226 36091226 G A rs546462273 RECK Nonsynonymous SNV R324H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 26.5 166935 chr2 163124637 163124637 T C rs35667974 IFIH1 Nonsynonymous SNV I923V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.6 166936 chr11 124135668 124135668 G A rs768959879 OR8G5 Nonsynonymous SNV V316I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.002 166937 chr10 95119648 95119648 C T rs375030658 MYOF Nonsynonymous SNV R1008Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 166938 chr9 4605377 4605377 T C rs757942643 SPATA6L Synonymous SNV T262T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.693 166939 chr22 36908587 36908587 C T rs114580755 EIF3D Synonymous SNV T423T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 18.05 166940 chr9 6015059 6015059 C T rs749521812 RANBP6 Synonymous SNV R183R 0 0 0.007 0 0 0 0 2 0 0 0 0 9.566 166941 chr9 6254497 6254497 C G rs1005011956 IL33 Nonsynonymous SNV L60V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 166942 chr20 35509130 35509130 T G rs41305821 TLDC2 Nonsynonymous SNV F139V 0.006 0.018 0.027 1 7 7 0.003 8 0 0 1 0 28.3 166943 chr9 71851938 71851938 C T rs779161706 TJP2 Nonsynonymous SNV R693C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 166944 chr12 57866437 57866437 G C rs374351364 ARHGAP9 Nonsynonymous SNV P376A 0.007 0.003 0 0 8 1 0 0 0 0 0 0 8.472 166945 chr22 38016847 38016847 C G rs774104689 GGA1 Nonsynonymous SNV P152R 0.011 0.008 0 4 13 3 0.01 0 0 0 0 0 29 166946 chr10 98355385 98355385 C T rs776649790 PIK3AP1 Synonymous SNV P789P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.64 166947 chr12 57969465 57969465 G A rs374729476 KIF5A Nonsynonymous SNV V561M 0.007 0.003 0 0 8 1 0 0 0 0 0 0 18.66 166948 chr2 171238580 171238580 C T rs748756718 MYO3B Synonymous SNV Y342Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 166949 chr20 825966 825966 C T FAM110A Synonymous SNV A173A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 166950 chr11 130078541 130078541 C T rs142090589 ST14 Nonsynonymous SNV A744V 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 24.8 166951 chr11 130281443 130281443 C T rs746184522 ADAMTS8 Nonsynonymous SNV R540Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 166952 chr4 48486154 48486154 C T SLC10A4 Synonymous SNV G192G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 166953 chr4 48493184 48493184 C T ZAR1 Synonymous SNV D292D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.08 166954 chr9 841987 841987 G C rs983369305 DMRT1 Nonsynonymous SNV S50T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.427 166955 chr9 86615956 86615956 C T rs35819647 RMI1 Nonsynonymous SNV H19Y 0.003 0 0.007 0 4 0 0 2 0 0 0 0 24.8 166956 chr20 44477088 44477088 C T rs201732456 ACOT8 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 166957 chr9 137582841 137582841 C T rs139468527 COL5A1 Nonsynonymous SNV R65W 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Benign/Likely benign 25.3 166958 chr20 44569534 44569534 G A rs142777416 PCIF1 Synonymous SNV T158T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.18 166959 chr4 56737353 56737353 T C rs780472170 EXOC1 Synonymous SNV N306N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.636 166960 chr9 95036747 95036747 T G rs115825549 IARS1 Nonsynonymous SNV E317D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 19.39 166961 chr9 95036748 95036748 T C rs114279476 IARS1 Nonsynonymous SNV E317G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 24.5 166962 chr12 1025869 1025869 G C rs4987206 RAD52 Nonsynonymous SNV Q144E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.001 166963 chr20 45978623 45978623 G A rs914211777 ZMYND8 Nonsynonymous SNV S4L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.79 166964 chr20 46265385 46265385 C T rs61748368 NCOA3 Nonsynonymous SNV S752F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.55 166965 chr13 46836107 46836107 A C rs573632841 LRRC63 Synonymous SNV P430P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.745 166966 chr9 96847673 96847673 G A PTPDC1 Nonsynonymous SNV E129K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 166967 chr22 44692597 44692597 A G rs765173474 SHISAL1 Nonsynonymous SNV V79A 0.003 0 0 0 4 0 0 0 0 0 0 0 26.3 166968 chr9 97827662 97827662 C T MIR6081 0 0 0.003 0 0 0 0 1 0 0 0 0 3.751 166969 chrUn_gl000220 121660 121660 G T LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 166970 chr12 6344423 6344423 A G CD9 Nonsynonymous SNV K57R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.306 166971 chr9 139399315 139399315 C T NOTCH1 Nonsynonymous SNV A1610T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 166972 chrX 110988111 110988111 A G ALG13 Nonsynonymous SNV S971G 0 0 0.007 0 0 0 0 2 0 0 1 0 23 166973 chr12 6700975 6700975 G A CHD4 Nonsynonymous SNV P1029L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 166974 chrX 128925056 128925056 A T SASH3 Synonymous SNV T147T 0 0 0.007 0 0 0 0 2 0 0 1 0 0.163 166975 chr10 119134412 119134412 C T rs368342602 PDZD8 Synonymous SNV L109L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.16 166976 chr9 140128709 140128709 G A rs146097023 SLC34A3 Synonymous SNV V358V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.097 166977 chr10 125805315 125805315 G A rs41297147 CHST15 Synonymous SNV S138S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.054 166978 chrX 18662742 18662742 A G rs1801161 RS1 Synonymous SNV C110C 0.003 0 0.024 0 3 0 0 7 1 0 3 0 Benign 0.992 166979 chr20 61162288 61162288 C - MIR1-1HG S34Wfs*24 0.001 0.003 0 0 1 1 0 0 0 0 0 0 166980 chr4 81967439 81967439 G A rs17005033 BMP3 Synonymous SNV K288K 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 8.649 166981 chr21 46066492 46066492 G A rs201708271 KRTAP10-11 Synonymous SNV P39P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.492 166982 chr2 204111587 204111587 G A rs149546776 CYP20A1 Nonsynonymous SNV V78M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 166983 chr2 20451445 20451445 G A rs72785292 PUM2 Synonymous SNV Y953Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 166984 chr21 46935804 46935804 G A rs758964210 SLC19A1 Nonsynonymous SNV S475F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.08 166985 chr20 62195458 62195458 G A rs147812640 HELZ2 Nonsynonymous SNV R1004W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.56 166986 chr12 117664505 117664505 G A NOS1 Synonymous SNV V893V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 166987 chrX 69282490 69282490 C T rs765873831 OTUD6A Nonsynonymous SNV T39M 0 0 0.007 0 0 0 0 2 0 0 1 0 14.55 166988 chrX 7243536 7243536 A G rs141215364 STS Nonsynonymous SNV D418G 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 24.9 166989 chrX 73045740 73045740 A C rs1794213 TSIX, XIST 0 0 0.054 0 0 0 0 16 0 0 4 0 4.931 166990 chrX 73062452 73062452 A G rs41298488 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 8.425 166991 chr2 210880974 210880974 - ATT rs754129495 RPE L63_Q64insL 0.002 0 0 0 2 0 0 0 0 0 0 0 166992 chr12 29904704 29904704 C T rs146096763 TMTC1 Nonsynonymous SNV R278Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 166993 chr5 102338769 102338769 T C rs765085875 PAM Nonsynonymous SNV I442T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 166994 chr12 125397304 125397304 T C rs141928018 UBC Synonymous SNV E338E 0.003 0 0 0 4 0 0 0 0 0 0 0 0.014 166995 chr2 219506899 219506899 C T rs749629699 ZNF142 Nonsynonymous SNV G1447E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.2 166996 chr12 47630052 47630052 G A rs771683925 PCED1B Synonymous SNV R402R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.45 166997 chr2 128707911 128707911 T C SAP130 Nonsynonymous SNV T796A 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 8.383 166998 chr21 31933454 31933454 G A KRTAP19-7 Nonsynonymous SNV S52L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.745 166999 chr12 48240209 48240209 C T rs150775215 VDR Synonymous SNV E311E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.08 167000 chr5 111519758 111519758 T A rs75508009 EPB41L4A Nonsynonymous SNV N526I 0 0.005 0.007 0 0 2 0 2 0 0 0 0 17.07 167001 chr5 112174010 112174010 G A rs771458366 APC Nonsynonymous SNV G889R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.84 167002 chr12 50186658 50186658 C T rs781285964 NCKAP5L Nonsynonymous SNV R1151Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 167003 chr2 152496426 152496426 A G rs748120166 NEB Nonsynonymous SNV V2945A 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Uncertain significance 23.4 167004 chr12 52579331 52579331 C T rs140694010 KRT80 Nonsynonymous SNV R114H 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 24.5 167005 chr14 44976111 44976111 G C FSCB Nonsynonymous SNV A27G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 167006 chr12 52942001 52942001 G A rs34468387 KRT71 Nonsynonymous SNV R305C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 25.8 167007 chr12 52981511 52981511 C T rs138110764 KRT72 Nonsynonymous SNV R363Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 167008 chr12 52994858 52994858 C T rs147647260 KRT72 Nonsynonymous SNV E127K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 167009 chr10 65225411 65225411 C T JMJD1C Synonymous SNV E4E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 167010 chr22 37466666 37466666 G A rs748725915 TMPRSS6 Nonsynonymous SNV R567C 0 0.005 0 0 0 2 0 0 0 0 0 0 33 167011 chr22 37770294 37770294 C T rs761684294 ELFN2 Synonymous SNV E427E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.708 167012 chr2 234858778 234858778 T A rs199509635 TRPM8 Nonsynonymous SNV S376R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.54 167013 chr12 54367629 54367631 GAG - rs779039291 HOXC11 E204del 0 0.003 0 0 0 1 0 0 0 0 0 0 167014 chr2 171655305 171655305 C T rs779401899 ERICH2 Synonymous SNV D124D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 167015 chr12 54799042 54799042 G A rs773645556 ITGA5 Nonsynonymous SNV T378M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 167016 chr2 238419321 238419321 A G rs80292002 MLPH Nonsynonymous SNV Q72R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.7 167017 chr22 39262511 39262511 G A CBX6 Synonymous SNV D296D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.228 167018 chr11 1466891 1466891 C T rs199919405 BRSK2 Synonymous SNV N356N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.59 167019 chr11 1651083 1651083 G A KRTAP5-5 Nonsynonymous SNV G5S 0.001 0 0 0 1 0 0 0 0 0 0 0 17 167020 chr22 40816955 40816955 G A rs56325101 MRTFA Synonymous SNV Y259Y 0.003 0.01 0.007 1 4 4 0.003 2 0 0 0 0 Benign 8.074 167021 chr22 40820273 40820273 C T rs150826874 MRTFA Synonymous SNV P138P 0.003 0.01 0.007 1 4 4 0.003 2 0 0 0 0 18.84 167022 chr10 74920284 74920284 G A rs145243678 ECD Synonymous SNV G77G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 167023 chr5 140735866 140735866 G C PCDHGA4 Nonsynonymous SNV A398P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.6 167024 chr12 57432786 57432786 C T rs138679694 MYO1A Nonsynonymous SNV R447Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 16.03 167025 chr5 140812248 140812248 G A rs147073234 PCDHGA12 Nonsynonymous SNV S641N 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 13.76 167026 chr12 57589460 57589460 C T rs147846383 LRP1 Synonymous SNV D2819D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 9.406 167027 chr14 64954420 64954420 C T rs142592421 ZBTB25 Nonsynonymous SNV D177N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25 167028 chr5 143545102 143545102 T C YIPF5 Synonymous SNV Q5Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.213 167029 chr5 14488091 14488091 G - TRIO A2453Pfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 167030 chr11 2631587 2631589 ATA - rs765954015 KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 167031 chr22 43558954 43558954 G A rs375211541 TSPO Nonsynonymous SNV R156Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 167032 chr11 3250000 3250000 G A rs530383366 MRGPRE Synonymous SNV H10H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.439 167033 chr10 85955337 85955337 C A rs201698218 CDHR1 Nonsynonymous SNV T48N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 30 167034 chr10 85981890 85981890 C T rs781380404 LRIT2 Nonsynonymous SNV G480D 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 167035 chr14 70989794 70989794 A T ADAM20 Nonsynonymous SNV C561S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 167036 chr2 241991561 241991561 G T rs369648878 SNED1 Synonymous SNV R652R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.668 167037 chr2 242007328 242007328 G A rs200407668 SNED1 Nonsynonymous SNV D1054N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 167038 chr13 73357764 73357764 C T rs756656568 PIBF1 Stop gain R53X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 167039 chr10 91178148 91178148 C T rs114336814 IFIT5 Nonsynonymous SNV H398Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 4.337 167040 chr12 80226178 80226178 C T rs376818585 PPP1R12A Nonsynonymous SNV R107Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 167041 chr2 26407977 26407977 C G GAREM2 Synonymous SNV P343P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 167042 chr2 196545231 196545231 A C rs769758742 SLC39A10 Synonymous SNV P155P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.499 167043 chr14 76905709 76905709 G C rs748245324 ESRRB Nonsynonymous SNV D5H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 167044 chr14 76966347 76966347 C T rs201448899 ESRRB Nonsynonymous SNV P480S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Uncertain significance 15.41 167045 chr2 201440070 201440070 T C rs149280869 SGO2 Nonsynonymous SNV F1223S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.47 167046 chr10 98743852 98743853 CT - LCOR P1212Rfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 167047 chr22 28194869 28194869 C A rs751577015 MN1 Nonsynonymous SNV A555S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 167048 chr13 111160469 111160469 G A COL4A2 Synonymous SNV E1594E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.99 167049 chr12 101581229 101581229 C A SLC5A8 Nonsynonymous SNV A300S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.97 167050 chr2 100058793 100058793 C T REV1 Synonymous SNV Q163Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 10.85 167051 chr14 92608642 92608642 T C CPSF2 Synonymous SNV L113L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 6.9 167052 chr2 32743973 32743973 A G rs35100455 BIRC6 Synonymous SNV P3861P 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 Benign 8.394 167053 chr13 114783686 114783686 G A RASA3 Nonsynonymous SNV R297W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 167054 chr5 168123349 168123349 G A rs139947152 SLIT3 Synonymous SNV T1017T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.008 167055 chr12 105558060 105558060 A G WASHC4 Nonsynonymous SNV Q1111R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 167056 chr22 32614550 32614550 G C rs924682077 SLC5A4 Nonsynonymous SNV A644G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.288 167057 chr2 38809110 38809110 A G HNRNPLL Synonymous SNV V249V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 167058 chr10 104592807 104592807 C T CYP17A1 Synonymous SNV V304V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.955 167059 chr2 21361668 21361668 C T TDRD15 Synonymous SNV N443N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.217 167060 chr2 44445126 44445126 G A rs138843044 PPM1B Nonsynonymous SNV E42K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 167061 chr2 112786368 112786368 C A MERTK Nonsynonymous SNV P976H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 167062 chr10 113941512 113941512 T C rs376686363 GPAM Nonsynonymous SNV I11V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.624 167063 chr11 6624704 6624704 G C rs542041353 RRP8 Nonsynonymous SNV A10G 0.007 0 0 0 8 0 0 0 0 0 0 0 24.1 167064 chr2 113941045 113941045 G A rs142771344 PSD4 Nonsynonymous SNV A338T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 167065 chr11 6661916 6661916 T C DCHS1 Nonsynonymous SNV H310R 0.005 0 0 0 6 0 0 0 0 0 0 0 0.002 167066 chr5 179020616 179020616 G A rs556184337 RUFY1 Synonymous SNV A353A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.968 167067 chr10 115803920 115803920 C T ADRB1 Nonsynonymous SNV A10V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.994 167068 chr11 6806374 6806374 T A OR2AG1 Nonsynonymous SNV L36M 0.005 0 0 0 6 0 0 0 0 0 0 0 0.015 167069 chr12 118490204 118490204 G A rs777807817 WSB2 Synonymous SNV S48S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.11 167070 chr14 23828943 23828943 A C EFS Synonymous SNV T155T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 167071 chr5 179563407 179563407 C T rs759404646 RASGEF1C Nonsynonymous SNV V137I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 167072 chr14 24026375 24026375 G A rs749793220 THTPA Nonsynonymous SNV E137K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.694 167073 chr2 220349052 220349052 C G SPEG Synonymous SNV A2289A 0.003 0 0 0 3 0 0 0 0 0 0 0 3.875 167074 chr5 180474991 180474991 G A rs138816460 BTNL9 Synonymous SNV P58P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.046 167075 chr10 123842551 123842551 C A TACC2 Nonsynonymous SNV P179Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.375 167076 chr5 33535048 33535048 A G rs376925681 ADAMTS12 Nonsynonymous SNV V1414A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 22 167077 chr10 126515293 126515293 A G ABRAXAS2 Nonsynonymous SNV I133V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.01 167078 chr2 71351519 71351519 A G rs754533473 MCEE Synonymous SNV Y65Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 167079 chr10 127753438 127753438 C T rs145695439 ADAM12 Nonsynonymous SNV G516S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 167080 chr14 36944004 36944004 A G rs548994699 SFTA3 0.002 0 0 0 2 0 0 0 0 0 0 0 4.081 167081 chr2 141299369 141299369 C T rs150174082 LRP1B Nonsynonymous SNV V2456I 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23 167082 chr2 74689312 74689312 C T rs199528323 MOGS Nonsynonymous SNV R535Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.13 167083 chr5 37125393 37125393 C T CPLANE1 Nonsynonymous SNV E2917K 0 0.005 0 0 0 2 0 0 0 0 0 0 34 167084 chr2 74763863 74763865 CTT - rs754250715 LOXL3 K295del 0.001 0 0 0 1 0 0 0 0 0 0 0 167085 chr11 17633715 17633715 G A rs750356823 OTOG Nonsynonymous SNV A2056T 0.005 0 0 0 6 0 0 0 0 0 0 0 16.65 167086 chr12 132625273 132625273 T C rs200438999 DDX51 Nonsynonymous SNV Y483C 0 0.003 0 0 0 1 0 0 0 0 0 0 22 167087 chr5 41201776 41201776 C A C6 Stop gain E62X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 167088 chr11 20129244 20129244 G A rs375862995 NAV2 Synonymous SNV V1356V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 167089 chr2 9628433 9628433 G A rs200692575 IAH1 Nonsynonymous SNV S128N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 167090 chr15 40750993 40750993 C A rs200547065 BAHD1 Synonymous SNV G110G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 5.589 167091 chr11 26695037 26695037 C G SLC5A12 Nonsynonymous SNV R540T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 167092 chr5 56177851 56177851 - CAA MAP3K1 T949_E950insT 0.001 0.003 0 0 1 1 0 0 0 0 0 0 167093 chr2 1647261 1647261 G A rs369595643 PXDN Synonymous SNV N1277N 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 7.865 167094 chr2 165793883 165793883 C T rs143997426 SLC38A11 Synonymous SNV R76R 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 10.74 167095 chr2 101606730 101606730 A G NPAS2 Nonsynonymous SNV M614V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.738 167096 chr2 167760127 167760127 G A rs759056647 XIRP2 Synonymous SNV A45A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 167097 chr15 43025361 43025361 C T rs999296713 CDAN1 Nonsynonymous SNV R464Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 28.2 167098 chr11 45274042 45274042 C T rs565058937 SYT13 Nonsynonymous SNV R259H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.49 167099 chr11 46341819 46341819 C T rs545997093 CREB3L1 Synonymous SNV P421P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.59 167100 chr13 39587010 39587010 G C rs374708257 PROSER1 Synonymous SNV V771V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 167101 chr11 46419283 46419285 GAG - rs766988577 AMBRA1 S1145del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 167102 chr3 11301661 11301661 C A HRH1 Nonsynonymous SNV A313E 0.004 0 0 0 5 0 0 0 0 0 0 0 0.002 167103 chr5 75902007 75902007 T C rs766747222 IQGAP2 Synonymous SNV Y362Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 167104 chr5 79030698 79030698 A G CMYA5 Nonsynonymous SNV Q2037R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 167105 chr3 119666151 119666151 G A rs201146011 GSK3B Synonymous SNV V110V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.81 167106 chr13 47354096 47354096 A G rs764650656 ESD Synonymous SNV L192L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.254 167107 chr11 48347030 48347030 C T OR4C3 Nonsynonymous SNV H153Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 167108 chr2 29084131 29084131 G C TRMT61B Nonsynonymous SNV D282E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 167109 chr5 90086955 90086955 G A rs41304892 ADGRV1 Nonsynonymous SNV R4770H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.6 167110 chr2 29296132 29296132 C T rs202025832 PCARE Synonymous SNV A332A 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 7.653 167111 chr13 79939825 79939825 A T RBM26 Synonymous SNV P440P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.88 167112 chr2 187368793 187368793 A G rs958919384 ZC3H15 Nonsynonymous SNV N190S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.6 167113 chr2 152319753 152319753 T G rs768787453 RIF1 Nonsynonymous SNV L1240W 0 0.008 0 1 0 3 0.003 0 0 0 0 0 24.1 167114 chr11 55761188 55761188 A T OR5F1 Nonsynonymous SNV I305N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.64 167115 chr2 42557246 42557246 C T EML4 Nonsynonymous SNV L891F 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 167116 chr6 11104512 11104512 C T rs368215241 ERVFRD-1 Synonymous SNV P344P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.84 167117 chr13 103514790 103514790 G A BIVM-ERCC5, ERCC5 Nonsynonymous SNV G431R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.49 167118 chr2 15468427 15468427 A C rs564956939 NBAS Nonsynonymous SNV C1453G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.296 167119 chr2 15468433 15468433 G C rs532091518 NBAS Nonsynonymous SNV Q1451E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.573 167120 chr13 103718521 103718521 T C rs201932543 SLC10A2 Nonsynonymous SNV N27D 0 0.005 0 0 0 2 0 0 0 0 0 0 22.1 167121 chr14 94844866 94844866 G A rs61761869 SERPINA1 Nonsynonymous SNV P393S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 167122 chr11 3109541 3109541 C G rs368266909 OSBPL5 Nonsynonymous SNV R777P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 167123 chr2 50574008 50574008 - CGCCGC rs766368745 NRXN1 G26_A27insGG 0.006 0 0 2 7 0 0.005 0 0 0 0 0 167124 chr2 198571142 198571142 A G rs776469200 MARS2 Nonsynonymous SNV H338R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 167125 chr2 200137048 200137048 G A rs143484322 SATB2 Synonymous SNV T696T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.708 167126 chr13 113976709 113976709 G C rs375930278 LAMP1 Nonsynonymous SNV R409S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 167127 chr2 170103260 170103260 C T rs754176029 LRP2 Nonsynonymous SNV D1049N 0 0.008 0 0 0 3 0 0 0 0 0 0 8.483 167128 chr6 13632607 13632607 A G RANBP9 Synonymous SNV L648L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.331 167129 chr14 104645659 104645659 G C rs977848155 KIF26A Synonymous SNV L1801L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.996 167130 chr6 13977902 13977902 G A RNF182 Synonymous SNV V184V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.573 167131 chr2 215645947 215645947 T C rs768866006 BARD1 Synonymous SNV K198K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 0.034 167132 chr2 216269175 216269175 C T rs142401055 FN1 Nonsynonymous SNV V1064I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 167133 chr2 178257664 178257664 C T rs34442536 AGPS Synonymous SNV P49P 0.007 0.01 0.007 4 8 4 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.42 167134 chr2 216916192 216916192 G A rs774604887 PECR Nonsynonymous SNV R195W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 167135 chr3 157154839 157154839 T G rs34655398 PTX3 Nonsynonymous SNV H39Q 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 5.81 167136 chr2 84668435 84668435 T C SUCLG1 Nonsynonymous SNV K156R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 167137 chr6 151857468 151857468 C A rs375681294 CCDC170 Nonsynonymous SNV L25I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.1 167138 chr15 30012056 30012056 T A TJP1 Synonymous SNV T976T 0.003 0 0 0 3 0 0 0 0 0 0 0 4.039 167139 chr15 30019030 30019030 C T rs754072191 TJP1 Nonsynonymous SNV E756K 0.004 0 0 1 5 0 0.003 0 1 0 0 0 29.1 167140 chr15 31360098 31360098 G A rs186217193 TRPM1 Synonymous SNV T176T 0.004 0 0 1 5 0 0.003 0 1 0 0 0 10.32 167141 chr14 24769625 24769625 C T rs142900863 NOP9 Nonsynonymous SNV H87Y 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 17.54 167142 chr3 169940481 169940481 C T PRKCI Synonymous SNV S8S 0.005 0 0 0 6 0 0 0 0 0 0 0 11.07 167143 chr15 31619876 31619876 G T KLF13 Nonsynonymous SNV G154V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 167144 chr2 220197294 220197294 G - rs750101855 RESP18 L62Cfs*3 0 0.003 0.003 0 0 1 0 1 0 0 0 0 167145 chr15 34396134 34396134 T G rs771290397 PGBD4 Nonsynonymous SNV Y468D 0.002 0 0 0 2 0 0 0 0 0 0 0 26 167146 chr15 39874815 39874815 C T rs142171763 THBS1 Synonymous SNV D163D 0.003 0 0 0 4 0 0 0 0 0 0 0 10.39 167147 chr2 98376209 98376209 C G rs191573811 TMEM131 Synonymous SNV S1704S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.68 167148 chr15 100657064 100657064 C G rs761568437 ADAMTS17 Nonsynonymous SNV V626L 0.002 0 0 8 2 0 0.021 0 0 0 0 0 14.97 167149 chr2 189599373 189599373 A G rs58846152 DIRC1 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 1.824 167150 chr11 6565458 6565458 G A rs186978440 DNHD1 Nonsynonymous SNV A1246T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.239 167151 chr11 6568866 6568866 C T rs117939157 DNHD1 Nonsynonymous SNV R2233C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 167152 chr2 189943819 189943819 G A rs144344474 COL5A2 Synonymous SNV P325P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign/Likely benign 11.74 167153 chr15 101606024 101606024 G A rs772745974 LRRK1 Synonymous SNV T1794T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.681 167154 chr15 42058553 42058553 G C rs201447485 MGA Nonsynonymous SNV W2549S 0.002 0 0 0 2 0 0 0 0 0 0 0 22 167155 chr11 6644624 6644624 G A DCHS1 Synonymous SNV N2761N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.372 167156 chr15 42167704 42167704 G A rs367923098 SPTBN5 Synonymous SNV D1413D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.766 167157 chr14 50081033 50081033 A G rs368394503 LRR1 Nonsynonymous SNV K355R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 167158 chr2 233409518 233409518 G A rs145607890 CHRNG Nonsynonymous SNV G429D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 167159 chr6 168323616 168323616 C T rs138033507 AFDN Nonsynonymous SNV L974F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.994 167160 chr6 170064346 170064346 G A rs200494024 WDR27 Nonsynonymous SNV R147C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 167161 chr2 207631566 207631566 A G rs141447598 FASTKD2 Nonsynonymous SNV K50R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 167162 chr2 208633063 208633063 T C rs763512313 FZD5 Nonsynonymous SNV D134G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 167163 chr2 238280628 238280628 C T rs145048734 COL6A3 Synonymous SNV S737S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 10.21 167164 chr2 238287629 238287629 C T rs144514259 COL6A3 Nonsynonymous SNV G309D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 20.8 167165 chr11 67012763 67012763 C T KDM2A Nonsynonymous SNV A117V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 167166 chr3 27338683 27338683 T A rs372412417 NEK10 Nonsynonymous SNV H406L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 167167 chr11 67219620 67219620 C T rs749367743 GPR152 Synonymous SNV S192S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 167168 chr16 2087918 2087918 T C SLC9A3R2 Nonsynonymous SNV M205T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.344 167169 chr11 67352192 67352192 C T rs200701643 GSTP1 Nonsynonymous SNV L61F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 167170 chr16 2764294 2764294 G A PRSS27 Stop gain Q94X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 167171 chr2 23918497 23918497 C T rs578019029 KLHL29 Nonsynonymous SNV A516V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.37 167172 chr11 67817648 67817648 C T rs145718040 TCIRG1 Synonymous SNV I505I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 167173 chr16 2821487 2821487 G A rs185064686 ELOB Nonsynonymous SNV R158C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.5 167174 chr11 17660999 17660999 C T rs200993057 OTOG Nonsynonymous SNV R2654W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 167175 chr2 241463640 241463640 G A rs748758852 ANKMY1 Synonymous SNV H179H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.651 167176 chr2 241570124 241570124 A G rs139042901 GPR35 Nonsynonymous SNV E252G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.397 167177 chr14 69795168 69795168 G A rs12100911 GALNT16 Synonymous SNV G190G 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 14.03 167178 chr14 70418999 70418999 G A rs10150925 SMOC1 Nonsynonymous SNV V82M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 23.2 167179 chr14 70478230 70478230 G A rs79580945 SMOC1 Nonsynonymous SNV A296T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 23.6 167180 chr16 3639262 3639262 G A rs773941480 SLX4 Synonymous SNV N1459N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.62 167181 chr2 242130627 242130629 GCC - rs771172211 ANO7 A44del 0 0.003 0 0 0 1 0 0 0 0 0 0 167182 chr14 74060469 74060469 G A ACOT4 Nonsynonymous SNV R174Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 167183 chr14 74531936 74531936 G T ALDH6A1 Nonsynonymous SNV T438N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 167184 chr11 32635822 32635822 T G rs765830288 CCDC73 Nonsynonymous SNV Q681P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.359 167185 chr14 75247234 75247234 C A YLPM1 Nonsynonymous SNV Q413K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 167186 chr3 129221715 129221715 G A rs370415289 IFT122 Nonsynonymous SNV R735H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23 167187 chr3 40192643 40192643 G A rs200900937 MYRIP Nonsynonymous SNV R146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 167188 chr2 27320476 27320476 C T rs780869692 KHK Nonsynonymous SNV P175S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 167189 chr3 40503526 40503526 - CTGCTGCTG RPL14 A159_K160insAAA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 167190 chr14 77942425 77942425 C T rs201403223 ISM2 Nonsynonymous SNV C410Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 167191 chr2 220432134 220432134 G A rs779757870 OBSL1 Synonymous SNV C566C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.352 167192 chr3 44286237 44286237 A G rs895817604 TOPAZ1 Nonsynonymous SNV I747V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.55 167193 chr14 81610347 81610347 C A rs180950119 TSHR Nonsynonymous SNV L649M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.707 167194 chr16 19468087 19468087 G T rs371846567 TMC5 Nonsynonymous SNV G20V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.452 167195 chr16 20693628 20693628 C T rs893730087 ACSM1 Synonymous SNV L187L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 167196 chr6 43250757 43250757 A C rs138997913 TTBK1 Nonsynonymous SNV E760A 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 6.071 167197 chr6 43593544 43593544 C T rs371190188 GTPBP2 Nonsynonymous SNV M64I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.14 167198 chr2 36706770 36706770 G A rs147700058 CRIM1 Synonymous SNV A435A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.36 167199 chr2 39187715 39187715 C T ARHGEF33 Nonsynonymous SNV R757C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 167200 chr2 233756151 233756151 C T rs140666386 NGEF Nonsynonymous SNV D305N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 27.2 167201 chr14 99932117 99932117 - TTT rs757425699 SETD3 K8_T9insK 0 0.003 0 0 0 1 0 0 0 0 0 0 167202 chr2 234602021 234602021 T A rs372477458 UGT1A6 Nonsynonymous SNV I124N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 2.99 167203 chr6 50803851 50803851 G A rs756874298 TFAP2B Nonsynonymous SNV G227S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 167204 chr16 31226165 31226165 G T rs778219100 TRIM72 Nonsynonymous SNV A36S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.12 167205 chr6 51918008 51918008 C T rs200497761 PKHD1 Nonsynonymous SNV R669H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.461 167206 chr16 48303930 48303930 G A rs150375495 LONP2 Nonsynonymous SNV R285H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 167207 chr16 50711333 50711333 C T rs762502560 SNX20 Synonymous SNV P35P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.95 167208 chr3 52540797 52540797 C T rs375531835 STAB1 Synonymous SNV I640I 0.004 0 0 2 5 0 0.005 0 0 0 0 0 16.61 167209 chr2 24262297 24262297 A G rs200677488 WDCP Nonsynonymous SNV I23T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.651 167210 chr6 80626470 80626470 A G rs148594713 ELOVL4 Nonsynonymous SNV I267T 0.004 0.023 0.007 5 5 9 0.013 2 0 0 0 0 Benign 8.833 167211 chr6 90718549 90718549 C T rs45447599 BACH2 Synonymous SNV E5E 0.003 0.01 0 0 3 4 0 0 0 0 0 0 Benign 13.33 167212 chr2 97007829 97007829 C T rs754883001 NCAPH Nonsynonymous SNV T94M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 31 167213 chr3 194313800 194313800 C T rs150713705 TMEM44 0.006 0 0 4 7 0 0.01 0 0 0 0 0 17.35 167214 chr11 125452284 125452284 C T rs201075869 EI24 Nonsynonymous SNV A239V 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 19.43 167215 chr15 43500478 43500478 C A rs116484797 EPB42 Nonsynonymous SNV G372V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.393 167216 chr15 44093954 44093954 C T rs202106711 HYPK Nonsynonymous SNV R106W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 167217 chr11 57995651 57995651 - G rs747489046 OR10Q1 Frameshift insertion I233Hfs*43 0.003 0.003 0 0 3 1 0 0 0 0 0 0 167218 chr3 27490231 27490231 C T rs148308402 SLC4A7 Nonsynonymous SNV R63H 0.004 0 0 0 5 0 0 0 0 0 0 0 27.7 167219 chr16 84229869 84229869 C T rs369562256 ADAD2 Synonymous SNV A473A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.42 167220 chr16 84488441 84488441 G A rs184444689 ATP2C2 Synonymous SNV G515G 0 0 0 3 0 0 0.008 0 0 0 0 0 8.619 167221 chr12 6143919 6143919 - GCCGTCCCCGTACACGGCGCAGGT VWF A873_H874insTCAVYGDG 0.001 0 0 0 1 0 0 0 0 0 0 0 167222 chr12 6143924 6143924 - GGCAGGGGTCATC VWF Stop gain M872Rfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 167223 chr12 6143926 6143926 - TGCA VWF Frameshift insertion M872Afs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 167224 chr12 6143929 6143929 - CCAC VWF Frameshift insertion I870Mfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 167225 chr15 64004979 64004979 C A rs748070202 HERC1 Nonsynonymous SNV A1527S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 167226 chr12 6143932 6143932 - CTGCT VWF Frameshift insertion I870Afs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 167227 chr12 6143934 6143934 - CACA VWF Frameshift insertion T869Cfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 167228 chr2 64117298 64117298 T C UGP2 Synonymous SNV F455F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.647 167229 chr2 64819158 64819158 G C AFTPH Nonsynonymous SNV A906P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.2 167230 chr15 65350832 65350832 C T rs142747328 RASL12 Nonsynonymous SNV A101T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.55 167231 chr15 65623545 65623545 C G rs200522013 IGDCC3 Synonymous SNV P468P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.257 167232 chr2 74719345 74719345 C T rs200425448 TTC31 Synonymous SNV P336P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.7 167233 chr17 649010 649010 C G rs201785298 GEMIN4 Nonsynonymous SNV W758S 0.003 0.013 0 2 4 5 0.005 0 0 0 0 0 24 167234 chr2 74902996 74902996 C T rs773961827 SEMA4F Nonsynonymous SNV R380W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 167235 chr2 75873960 75873960 C T rs754026770 MRPL19 Synonymous SNV H9H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.06 167236 chr15 82335927 82335927 C T rs61752328 MEX3B Synonymous SNV V428V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.151 167237 chr11 66358259 66358259 C T CCDC87 Nonsynonymous SNV G743E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 167238 chr3 51977512 51977512 C T rs112817696 PARP3 Synonymous SNV R54R 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 Benign 11.62 167239 chr11 67059077 67059077 C T ANKRD13D Nonsynonymous SNV P134L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 167240 chr3 51990763 51990763 T G rs116027996 GPR62 Nonsynonymous SNV S365R 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 0.52 167241 chr3 52005638 52005638 G A rs114730569 ABHD14B Stop gain Q17X 0.005 0 0.01 3 6 0 0.008 3 0 0 0 0 35 167242 chr3 52156461 52156461 A C rs115238307 POC1A Synonymous SNV V305V 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 Benign 0.267 167243 chr3 52183958 52183958 G A rs11546882 POC1A Nonsynonymous SNV P50L 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 Benign 34 167244 chr15 86312206 86312206 T C KLHL25 Nonsynonymous SNV N279S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.469 167245 chr16 30747650 30747650 C T rs748126519 SRCAP Nonsynonymous SNV R2287W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 167246 chr3 141161943 141161943 G A rs377023098 ZBTB38 Nonsynonymous SNV R238H 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 3.518 167247 chr4 186112135 186112135 G A rs147009616 CFAP97 Synonymous SNV N72N 0.004 0.003 0.007 7 5 1 0.018 2 0 0 0 0 0.349 167248 chr3 111899476 111899476 T C rs199526927 SLC9C1 Nonsynonymous SNV N847D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.1 167249 chr3 58095830 58095830 C T FLNB Nonsynonymous SNV T806M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 167250 chr4 265813 265813 A T rs782032178 ZNF732 Nonsynonymous SNV F278Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 167251 chr3 15624436 15624436 C T rs75008576 HACL1 Synonymous SNV T123T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 12.47 167252 chr4 265825 265825 T C rs782106198 ZNF732 Nonsynonymous SNV E274G 0.003 0 0 0 4 0 0 0 0 0 0 0 0.008 167253 chr3 15686243 15686243 A G rs35976361 BTD Nonsynonymous SNV I274V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 167254 chr4 265829 265829 C T rs782705348 ZNF732 Nonsynonymous SNV A273T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.125 167255 chr15 92671644 92671644 C T rs777202369 SLCO3A1 Synonymous SNV T479T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 167256 chr4 265835 265837 TTC - rs782360357 ZNF732 R270del 0.002 0 0 0 2 0 0 0 0 0 0 0 167257 chr4 265840 265840 T C rs781846769 ZNF732 Nonsynonymous SNV K269R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 167258 chr17 6913325 6913325 C T rs761503943 ALOX12 Synonymous SNV P564P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.51 167259 chr3 16237372 16237372 C T rs9833671 GALNT15 Synonymous SNV L215L 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 19.24 167260 chr16 58318604 58318604 T A rs3815803 PRSS54 Nonsynonymous SNV S83C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 167261 chr4 3494544 3494544 C T rs150549589 DOK7 Synonymous SNV A133A 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 Benign 13.23 167262 chr3 167170788 167170788 G A rs61750373 SERPINI2 Synonymous SNV D300D 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 3.797 167263 chr16 67697963 67697963 C T rs35368900 ENKD1 Synonymous SNV E152E 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 14.44 167264 chr16 67857606 67857606 G A rs200184310 TSNAXIP1 Synonymous SNV A155A 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 2.904 167265 chr16 67913510 67913510 G C EDC4 Nonsynonymous SNV E552Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.8 167266 chr16 68279421 68279421 C T rs142099674 PLA2G15 Nonsynonymous SNV A31V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 22.4 167267 chr7 148895746 148895746 C T ZNF282 Synonymous SNV L163L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.53 167268 chr7 149416623 149416623 G A KRBA1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 167269 chr17 7830681 7830681 C T rs184269668 KCNAB3 Nonsynonymous SNV E129K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 34 167270 chr16 420057 420057 G A rs770406789 MRPL28 Synonymous SNV P54P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.79 167271 chr3 180702494 180702494 T G rs17850540 DNAJC19 Synonymous SNV G70G 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign 11.66 167272 chr16 72048431 72048431 C T rs61747639 DHODH Synonymous SNV D98D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 13.29 167273 chr3 183732056 183732056 C T rs139717469 ABCC5 Nonsynonymous SNV R42Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.5 167274 chr4 47682218 47682218 T C rs919603806 CORIN Nonsynonymous SNV M358V 0.005 0.005 0 0 6 2 0 0 0 1 0 0 0.002 167275 chr12 52599803 52599803 A C rs1049211273 C12orf80 0.002 0 0 0 2 0 0 0 0 0 0 0 8.552 167276 chr16 74922128 74922128 G A WDR59 Nonsynonymous SNV P762L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 167277 chr16 75269441 75269441 T G rs201494574 BCAR1 Nonsynonymous SNV E242D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 14.14 167278 chr16 75269564 75269564 C T rs145903338 BCAR1 Synonymous SNV A201A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 13.26 167279 chr3 184070263 184070263 G A CLCN2 Nonsynonymous SNV R703C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 167280 chr16 75646508 75646508 T C rs56029288 ADAT1 Nonsynonymous SNV I139V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.001 167281 chr7 154863160 154863160 C T rs569927491 HTR5A Nonsynonymous SNV T184M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 167282 chr17 16229165 16229165 A G rs370082158 PIGL Nonsynonymous SNV I238V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 167283 chr7 157000224 157000224 C T rs17837726 UBE3C Synonymous SNV N517N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.87 167284 chr12 53085121 53085144 CCGCCGCCATAGCCCCCACCGCTG - rs543194372 KRT77 S515_G522del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 167285 chr16 81727075 81727075 G A rs199973612 CMIP Nonsynonymous SNV E411K 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 167286 chr7 20199031 20199031 C T MACC1 Nonsynonymous SNV G318D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 167287 chr3 193185234 193185234 C A rs137904405 ATP13A4 Nonsynonymous SNV D329Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 167288 chr11 114576683 114576683 A G rs149918157 NXPE2 Nonsynonymous SNV H370R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.865 167289 chr4 13606636 13606636 G T rs780259920 BOD1L1 Nonsynonymous SNV P630T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 167290 chr12 54448048 54448048 G A HOXC4 Synonymous SNV P114P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.66 167291 chr3 138193164 138193164 G A rs200647256 ESYT3 Nonsynonymous SNV R813Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.2 167292 chr4 142053517 142053517 C T rs531253183 RNF150 Nonsynonymous SNV G149D 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 24.6 167293 chr17 26943592 26943592 G A SPAG5-AS1 0.003 0 0 4 4 0 0.01 0 0 0 0 0 1.817 167294 chr7 33427607 33427607 C T rs762045410 BBS9 Nonsynonymous SNV R499W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 167295 chr3 37163137 37163137 G A rs750335262 LRRFIP2 Nonsynonymous SNV R75C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 167296 chr12 65563405 65563405 A T LEMD3 Nonsynonymous SNV Q10L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.6 167297 chr12 65563575 65563580 AATAAC - LEMD3 N69_N70del 0.003 0 0 0 3 0 0 0 0 0 0 0 167298 chr3 158363540 158363540 C T rs763552707 GFM1 Synonymous SNV Y68Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.812 167299 chr16 17232443 17232443 A G LOC102723692 0 0.003 0 0 0 1 0 0 0 0 0 0 3.173 167300 chr17 1639008 1639008 G T rs1029707493 WDR81 Synonymous SNV L571L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.462 167301 chr4 90874171 90874171 T C rs199716183 MMRN1 Nonsynonymous SNV Y1097H 0.007 0 0 0 8 0 0 0 0 0 0 0 26.2 167302 chr12 80940402 80940402 G A rs370981623 PTPRQ Nonsynonymous SNV R1142H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 167303 chr17 3653759 3653759 C T rs112808026 ITGAE Synonymous SNV T637T 0.003 0.003 0.017 4 4 1 0.01 5 0 0 0 0 10.16 167304 chr4 186112125 186112125 G A CFAP97 Nonsynonymous SNV P76S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 167305 chr12 665931 665931 G A rs760482360 B4GALNT3 Nonsynonymous SNV R760H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.265 167306 chr12 992649 992649 G A rs72650720 WNK1 Nonsynonymous SNV S946N 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 167307 chr3 46399060 46399060 C T rs192039364 CCR2 Synonymous SNV N14N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.103 167308 chr17 4495684 4495684 C T rs189303373 SMTNL2 Nonsynonymous SNV S143L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.6 167309 chr5 110409305 110409305 G A rs1051937084 TSLP Nonsynonymous SNV A9T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.182 167310 chr12 2788657 2788657 C T rs115216455 CACNA1C Synonymous SNV D1721D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.58 167311 chr3 46713415 46713415 G A rs9845343 ALS2CL Synonymous SNV D881D 0.004 0.008 0.01 2 5 3 0.005 3 0 0 1 0 11.95 167312 chr3 46727924 46727924 G A rs34355898 ALS2CL Synonymous SNV H180H 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 0.43 167313 chr3 46759267 46759267 C T rs7612286 PRSS50 Synonymous SNV T16T 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 13.64 167314 chr4 187201202 187201202 G T F11 Nonsynonymous SNV L264F 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 167315 chr3 4725115 4725115 C T rs186541002 ITPR1 Synonymous SNV T1054T 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign/Likely benign 8.03 167316 chr7 66103309 66103309 G A rs145238250 KCTD7 Synonymous SNV E128E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.48 167317 chr4 187557838 187557838 G A rs768773369 FAT1 Synonymous SNV I1291I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.15 167318 chr7 70246661 70246661 C T rs761324549 AUTS2 Nonsynonymous SNV R665C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 167319 chr12 104373829 104373829 C A rs757448773 TDG Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 167320 chr7 73470761 73470761 T C ELN Synonymous SNV I427I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.56 167321 chr17 5485188 5485188 A C rs769899247 NLRP1 Nonsynonymous SNV Y215D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.887 167322 chr3 49740891 49740891 T C rs767019354 RNF123 Synonymous SNV N594N 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 8.168 167323 chr4 26483553 26483553 C T rs778956662 CCKAR Nonsynonymous SNV A332T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 167324 chr5 126860562 126860562 G A rs143589506 PRRC1 Nonsynonymous SNV R148K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 167325 chr12 111758359 111758359 C T CUX2 Nonsynonymous SNV T787M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.41 167326 chr17 7697645 7697645 G A rs11656500 DNAH2 Nonsynonymous SNV R2548H 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 24.5 167327 chr3 57312859 57312859 T C ASB14 Nonsynonymous SNV H41R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.8 167328 chr3 32737140 32737140 C T rs984274838 CNOT10 Nonsynonymous SNV T8I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.659 167329 chr3 58409193 58409193 T - rs772758615 PXK Stop gain L375* 0.002 0.008 0 0 2 3 0 0 0 0 0 0 167330 chr7 99711243 99711243 G A rs144801787 TAF6 Synonymous SNV L168L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.561 167331 chr17 10436907 10436907 G A rs749480408 MYH2 Synonymous SNV F741F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.328 167332 chr5 140176102 140176102 A T PCDHA2 Nonsynonymous SNV Y518F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.104 167333 chr16 75033825 75033825 C G rs112370673 ZNRF1 Nonsynonymous SNV P86A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.31 167334 chr4 56831974 56831974 A T rs140748251 CEP135 Nonsynonymous SNV R331S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 167335 chr3 38522857 38522857 G A rs771351285 ACVR2B Synonymous SNV K325K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.47 167336 chr3 38537892 38537892 G T EXOG Nonsynonymous SNV G12C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.7 167337 chr5 140431393 140431393 C T PCDHB1 Nonsynonymous SNV P113L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 167338 chr5 140470 140470 C G rs748941828 PLEKHG4B Synonymous SNV A372A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.591 167339 chr4 5785459 5785459 C G rs367863826 EVC Nonsynonymous SNV L582V 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 14.35 167340 chr4 5969163 5969163 A G rs114377651 C4orf50 Synonymous SNV S1198S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.232 167341 chr4 6087228 6087228 C T rs779062519 JAKMIP1 Synonymous SNV K86K 0.003 0 0 0 3 0 0 0 0 0 0 0 14.94 167342 chr4 6303319 6303319 C A rs71524361 WFS1 Synonymous SNV V599V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 1.709 167343 chr4 6303322 6303322 C T rs71524362 WFS1 Synonymous SNV T600T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 6.643 167344 chr3 9885616 9885616 A T rs775762534 RPUSD3 Nonsynonymous SNV V28D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 167345 chr5 141318214 141318214 C T rs143811019 DELE1 Nonsynonymous SNV L480F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 167346 chr12 132262651 132262651 G A SFSWAP Synonymous SNV R728R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 167347 chr16 84256578 84256578 A G rs149163346 KCNG4 Nonsynonymous SNV C269R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 167348 chr12 31604842 31604842 A G rs745636050 DENND5B Nonsynonymous SNV L377S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.631 167349 chr8 121256207 121256207 G A rs769029750 COL14A1 Synonymous SNV T813T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.26 167350 chr17 61886212 61886212 A G rs746356865 DDX42 Synonymous SNV A352A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.56 167351 chr16 86588958 86588962 CCAGG - FLJ30679 0.001 0.003 0 0 1 1 0 0 0 0 0 0 167352 chr5 147845467 147845467 G C rs201447879 HTR4 Nonsynonymous SNV S366R 0.002 0 0 0 2 0 0 0 0 0 0 0 19 167353 chr13 23915435 23915435 T C rs41283958 SACS Synonymous SNV Q713Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 167354 chr16 88501553 88501553 A G rs146789160 ZNF469 Nonsynonymous SNV K2559E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.027 167355 chr5 149375900 149375900 C G rs748489493 TIGD6 Nonsynonymous SNV K4N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 167356 chr12 48106391 48106391 - T rs754744320 ENDOU Frameshift insertion G231Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 167357 chr5 149460343 149460343 G A rs17652007 CSF1R Synonymous SNV H98H 0.003 0 0.014 0 3 0 0 4 0 0 0 0 Benign 9.33 167358 chr12 49169232 49169232 G A rs373255438 ADCY6 Nonsynonymous SNV R612W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 167359 chr12 49447085 49447085 T C rs375915416 KMT2D Nonsynonymous SNV K287E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.02 167360 chr3 47452773 47452773 G A rs150589115 PTPN23 Nonsynonymous SNV R1036Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.051 167361 chr8 133058074 133058074 T C OC90 Nonsynonymous SNV N35D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.48 167362 chr12 50030585 50030585 C T rs753684139 PRPF40B Nonsynonymous SNV R483W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 167363 chr16 88943542 88943542 C T rs200760802 CBFA2T3 Nonsynonymous SNV V516M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.81 167364 chr5 150924260 150924260 A C FAT2 Nonsynonymous SNV V2143G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 167365 chr12 50746211 50746211 C G rs751417214 FAM186A Synonymous SNV G1468G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.129 167366 chr4 115997346 115997346 T C rs138579687 NDST4 Nonsynonymous SNV I283V 0 0.003 0.01 0 0 1 0 3 0 0 0 0 10.55 167367 chr17 72349674 72349674 C G KIF19 Synonymous SNV S754S 0 0 0 3 0 0 0.008 0 0 0 0 0 9.423 167368 chr13 37586416 37586416 T C rs140228857 SUPT20H Nonsynonymous SNV T671A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.306 167369 chr16 89842220 89842220 T C rs1800338 FANCA Synonymous SNV A610A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 7.525 167370 chr8 143399929 143399929 G A rs138142985 TSNARE1 Synonymous SNV A101A 0 0.005 0 0 0 2 0 0 0 0 0 0 9.229 167371 chr12 52943953 52943953 G A rs139703366 KRT71 Synonymous SNV N172N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.775 167372 chr4 89199444 89199444 C T rs149313625 PPM1K Nonsynonymous SNV A98T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 167373 chr17 3101591 3101591 G A rs111855057 OR1A2 Nonsynonymous SNV R260H 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 4.594 167374 chr4 958979 958979 C T rs539338290 DGKQ Synonymous SNV V573V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.42 167375 chr4 147560450 147560450 - TGG rs764871244 POU4F2 G68_R69insG 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 167376 chr4 147788684 147788684 T C rs369571582 TTC29 Nonsynonymous SNV H284R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.98 167377 chr13 67800753 67800753 A C PCDH9 Nonsynonymous SNV V607G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 25.9 167378 chr4 15005026 15005026 C G CPEB2 Nonsynonymous SNV H243Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.62 167379 chr8 144874440 144874440 G A rs371082782 SCRIB Synonymous SNV A1488A 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 14.68 167380 chr3 57310726 57310726 C T rs762743268 ASB14 Nonsynonymous SNV R254H 0.007 0.005 0 0 8 2 0 0 0 0 0 0 35 167381 chr5 110819852 110819852 A C rs200094743 CAMK4 Nonsynonymous SNV K173N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.216 167382 chr8 144998982 144998982 C T rs782757364 PLEC Synonymous SNV A1691A 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 13.16 167383 chr17 4046054 4046054 G A rs199896183 ZZEF1 Nonsynonymous SNV P46S 0.001 0.008 0.007 3 1 3 0.008 2 0 0 0 0 0.005 167384 chr13 98829297 98829297 C G RNF113B Nonsynonymous SNV R65T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.153 167385 chr13 99043091 99043091 G A FARP1 Nonsynonymous SNV D349N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 167386 chr8 145512914 145512914 C T rs7836723 BOP1 Synonymous SNV E57E 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 14.18 167387 chr8 145540349 145540349 G A rs146197651 DGAT1 Synonymous SNV G445G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.66 167388 chr12 56514449 56514449 G A rs202024593 ZC3H10 Nonsynonymous SNV G35R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 167389 chr17 4906099 4906099 C T rs141189136 KIF1C Nonsynonymous SNV R228C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 34 167390 chr8 145735278 145735278 C T rs74580613 MFSD3 Nonsynonymous SNV R188W 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 26.9 167391 chr8 145736002 145736002 G A rs55797497 MFSD3 Synonymous SNV R284R 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 5.797 167392 chr3 93803118 93803118 C T rs768827223 NSUN3 Nonsynonymous SNV P97L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 167393 chr8 145736077 145736077 C T rs7837302 MFSD3 Synonymous SNV A309A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 10.43 167394 chr17 5253804 5253804 G A rs762051770 RABEP1 Synonymous SNV Q238Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.486 167395 chr12 57569339 57569339 G A rs35890409 LRP1 Nonsynonymous SNV G1215E 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 24.7 167396 chr8 1513979 1513979 C T DLGAP2 Nonsynonymous SNV P454L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.6 167397 chr4 169362505 169362505 T C rs781608302 DDX60L Nonsynonymous SNV E426G 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.323 167398 chr5 344026 344026 G A rs201384135 AHRR Synonymous SNV P7P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 167399 chr5 130764880 130764880 C T rs766800773 RAPGEF6 Nonsynonymous SNV D1499N 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 167400 chr17 42084807 42084807 G A rs767500115 NAGS Nonsynonymous SNV D405N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 167401 chr12 66308896 66308896 A G rs77970919 HMGA2 Nonsynonymous SNV K103E 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 3.469 167402 chr17 42389987 42389987 G A rs769884244 RUNDC3A Synonymous SNV E49E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.28 167403 chr4 177082101 177082101 G A rs149393717 WDR17 Nonsynonymous SNV V900M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 167404 chr17 45810968 45810968 G A TBX21 Nonsynonymous SNV G50R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.55 167405 chr5 41159183 41159183 C G C6 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 167406 chr17 7324652 7324652 A G rs200555656 SPEM1 Nonsynonymous SNV K220E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.94 167407 chr5 44809162 44809162 G T rs3747479 MRPS30 Nonsynonymous SNV C33F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.656 167408 chr5 45695956 45695956 G T rs373664268 HCN1 Synonymous SNV G80G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.114 167409 chr4 184368094 184368094 G C rs200444062 CDKN2AIP Nonsynonymous SNV E419D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 167410 chr5 138857099 138857099 G A rs774690247 STING1 Nonsynonymous SNV A135V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.096 167411 chr12 78512025 78512025 A T rs762988858 NAV3 Nonsynonymous SNV Q996H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.591 167412 chr14 21543511 21543511 C T rs142313542 ARHGEF40 Nonsynonymous SNV P491S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 167413 chr17 51900776 51900776 G C rs9912492 KIF2B Nonsynonymous SNV G128R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 19.36 167414 chr17 51901503 51901503 G C rs73989591 KIF2B Nonsynonymous SNV W370S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 22.4 167415 chr17 51901537 51901537 T C rs73989592 KIF2B Synonymous SNV N381N 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.26 167416 chr17 51901553 51901553 G A rs73989593 KIF2B Nonsynonymous SNV V387I 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 25.1 167417 chr18 9887722 9887722 G A rs750461478 TXNDC2 Nonsynonymous SNV E416K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.7 167418 chr8 28929237 28929237 G A rs367988811 KIF13B Synonymous SNV F1706F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.86 167419 chr8 28950348 28950348 C T rs200599694 KIF13B Nonsynonymous SNV V1458M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 167420 chr4 24822709 24822709 C T CCDC149 Nonsynonymous SNV G348D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21.5 167421 chr14 23355875 23355875 C T REM2 Synonymous SNV A260A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 167422 chr17 11593132 11593132 C T DNAH9 Synonymous SNV A1331A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 167423 chr17 11671776 11671776 G C DNAH9 Nonsynonymous SNV D2393H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 167424 chr12 97085030 97085030 T C CFAP54 Nonsynonymous SNV V2069A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 167425 chr4 2930188 2930190 AAG - rs758744240 ADD1 K721del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 167426 chr14 23993746 23993746 G C rs761147054 ZFHX2 Nonsynonymous SNV P1802R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.66 167427 chr14 24588808 24588808 A C DCAF11 Nonsynonymous SNV N297H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 167428 chr8 38853853 38853853 G C rs768052686 TM2D2 Nonsynonymous SNV Q36E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.68 167429 chr14 24792274 24792274 C T rs77575206 ADCY4 Synonymous SNV T726T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.56 167430 chr8 42231657 42231657 A G rs573970366 DKK4 Synonymous SNV H212H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 167431 chr8 42294592 42294592 C T rs79577461 SLC20A2 Nonsynonymous SNV A480T 0.004 0.003 0.01 0 5 1 0 3 0 0 0 0 Benign/Likely benign 4.457 167432 chr4 1369933 1369933 C T rs142916158 UVSSA Synonymous SNV L515L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 167433 chr8 51705349 51705349 C T rs370931379 SNTG1 Nonsynonymous SNV A468V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 167434 chr17 19699576 19699576 A T ULK2 Nonsynonymous SNV I610N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 167435 chr4 4276424 4276424 T C rs150811602 LYAR Nonsynonymous SNV K168E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 167436 chr14 36003773 36003773 C T INSM2 Synonymous SNV S105S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.8 167437 chr14 36004549 36004549 A G rs769713703 INSM2 Nonsynonymous SNV D364G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.24 167438 chr12 113592245 113592245 G A rs1044144882 CFAP73 Synonymous SNV A165A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.71 167439 chr4 4861920 4861920 C A rs751909477 MSX1 Synonymous SNV V98V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.36 167440 chr17 71282336 71282336 T C rs34201519 CDC42EP4 Nonsynonymous SNV M102V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.053 167441 chr12 116450667 116450667 A C rs147976467 MED13L Synonymous SNV P405P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.078 167442 chr17 71282505 71282505 G A rs142351873 CDC42EP4 Synonymous SNV D45D 0.003 0 0 0 4 0 0 0 0 0 0 0 0.057 167443 chr5 79357604 79357604 A G rs144811621 THBS4 Synonymous SNV T267T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.799 167444 chr17 72249297 72249297 C T rs199526005 TTYH2 Nonsynonymous SNV P125L 0.003 0 0 0 4 0 0 0 0 0 0 0 14.9 167445 chr12 118533344 118533344 C T rs138372496 VSIG10 Nonsynonymous SNV V119M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 167446 chr4 5687173 5687173 G A rs200717964 EVC2 Nonsynonymous SNV T167M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.15 167447 chr12 118587864 118587864 C G TAOK3 Nonsynonymous SNV C415S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.84 167448 chr4 156618092 156618092 G A rs2170646 GUCY1A1 Nonsynonymous SNV V25I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 3.124 167449 chr4 156631842 156631842 T C rs16998966 GUCY1A1 Synonymous SNV H175H 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 0.056 167450 chr17 72832570 72832570 C T rs776273988 TMEM104 Nonsynonymous SNV A412V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 167451 chr5 162881018 162881018 T G NUDCD2 Synonymous SNV G93G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.311 167452 chr14 51382091 51382091 C T rs113993979 PYGL Nonsynonymous SNV V422M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 34 167453 chr17 30625123 30625123 G A rs200550351 RHBDL3 Synonymous SNV L166L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.63 167454 chr4 169060730 169060730 G A rs141013572 ANXA10 Nonsynonymous SNV R65Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 167455 chr12 121647974 121647974 G T rs200492184 P2RX4 Nonsynonymous SNV G3C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.9 167456 chr4 6864359 6864359 G A rs201903691 KIAA0232 Synonymous SNV S750S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 6.8 167457 chr4 6864546 6864546 G A KIAA0232 Nonsynonymous SNV E813K 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.484 167458 chr12 122281734 122281734 C T rs140144597 HPD Nonsynonymous SNV R279H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 167459 chr17 33876049 33876049 G T SLFN14 Nonsynonymous SNV Q650K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.274 167460 chr17 33876050 33876050 C T SLFN14 Nonsynonymous SNV M649I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 167461 chr5 170610406 170610406 G A rs144361650 RANBP17 Synonymous SNV A670A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.82 167462 chr17 73949555 73949555 C T rs79677613 ACOX1 Synonymous SNV R269R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 15.43 167463 chr14 55618431 55618431 T C rs866588854 DLGAP5 Nonsynonymous SNV T784A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.793 167464 chr5 96249076 96249076 C G rs780497238 ERAP2 Nonsynonymous SNV L813V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.156 167465 chr4 76570629 76570629 T C rs72649422 G3BP2 Synonymous SNV T445T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.104 167466 chr12 132326261 132326261 C T rs774471246 MMP17 Nonsynonymous SNV R267W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 167467 chr9 113449502 113449502 T C rs56181115 MUSK Synonymous SNV G104G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.905 167468 chr6 12124209 12124209 C T rs755401282 HIVEP1 Nonsynonymous SNV T1394I 0.005 0 0 0 6 0 0 0 0 0 0 0 24.4 167469 chr19 918604 918604 T C rs104894703 KISS1R Nonsynonymous SNV L102P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 23.4 167470 chr14 69968544 69968544 T A PLEKHD1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 167471 chr9 117168872 117168872 C T rs202161016 WHRN Nonsynonymous SNV A316T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.466 167472 chr13 24200871 24200871 G A rs144154174 TNFRSF19 Nonsynonymous SNV G129S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 167473 chr5 35667239 35667239 T C rs147621729 SPEF2 Synonymous SNV D411D 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.027 167474 chr14 73735296 73735296 C T rs762384983 PAPLN Nonsynonymous SNV R1178C 0.003 0 0 0 3 0 0 0 0 0 0 0 31 167475 chr13 26620765 26620765 G C SHISA2 Synonymous SNV P258P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.694 167476 chr13 31725095 31725095 T C rs779824270 HSPH1 Synonymous SNV G223G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.022 167477 chr19 2981556 2981556 C T rs527349785 TLE6 Nonsynonymous SNV A52V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 167478 chr5 109124671 109124671 T C MAN2A1 Synonymous SNV I599I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.695 167479 chr14 81969158 81969158 A G rs35377988 SEL1L Synonymous SNV A228A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.483 167480 chr5 112178100 112178100 C T rs878853466 APC Nonsynonymous SNV S2252F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 167481 chr5 55247837 55247837 T G rs368246591 IL6ST Nonsynonymous SNV D208A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.69 167482 chr5 57790494 57790494 C T rs778835921 GAPT Nonsynonymous SNV P44L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.1 167483 chr18 12840773 12840773 C A PTPN2 Nonsynonymous SNV D5Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.039 167484 chr13 44734846 44734846 T C rs548378430 SMIM2 Nonsynonymous SNV K49R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.78 167485 chr6 158348216 158348216 C T SNX9 Nonsynonymous SNV P385L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 167486 chr14 93799218 93799218 - CCA BTBD7 G20_D21insG 0.001 0 0 0 1 0 0 0 0 0 0 0 167487 chr14 93799222 93799222 - CGCCGCCACCAG BTBD7 G17_G18insAGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 167488 chr14 94048640 94048640 G A rs990299204 UNC79 Nonsynonymous SNV S918N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.438 167489 chr9 131909704 131909704 C T rs745472873 PTPA Synonymous SNV F282F 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 167490 chr5 71493677 71493677 G T rs371453645 MAP1B Nonsynonymous SNV D1373Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27 167491 chr18 29446850 29446850 G C rs142295990 TRAPPC8 Nonsynonymous SNV T851R 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 10.43 167492 chr5 78340228 78340228 T G rs142181836 DMGDH Nonsynonymous SNV Y298S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 167493 chr17 56585536 56585536 G A rs371605696 MTMR4 Synonymous SNV P217P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.901 167494 chr17 56603088 56603088 A G SEPTIN4 Nonsynonymous SNV L70P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 167495 chr4 74005543 74005543 C T rs147744591 ANKRD17 Synonymous SNV Q817Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.407 167496 chr6 170598633 170598633 G A rs974004187 DLL1 Synonymous SNV N106N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 167497 chr19 7569093 7569093 G C rs578125199 TEX45 Nonsynonymous SNV A222P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 167498 chr17 62028940 62028940 C T rs199827271 SCN4A Synonymous SNV L899L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.89 167499 chr14 105219589 105219589 G A SIVA1 Synonymous SNV K17K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 167500 chr14 105268783 105268783 G A rs752851039 ZBTB42 Nonsynonymous SNV V417I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 167501 chr14 105350815 105350815 G A rs200049698 CEP170B Nonsynonymous SNV A497T 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 23.1 167502 chr14 105452956 105452956 C G rs184621696 CLBA1 Nonsynonymous SNV T63S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.377 167503 chr19 8200884 8200884 C T FBN3 Nonsynonymous SNV A518T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.78 167504 chr13 114307739 114307739 T C rs200364303 ATP4B Synonymous SNV L84L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.383 167505 chr4 8372667 8372667 G C ACOX3 Nonsynonymous SNV L651V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.5 167506 chr5 140474723 140474723 C T PCDHB2 Stop gain Q117X 0 0.005 0 0 0 2 0 0 0 0 0 0 35 167507 chr6 26468621 26468621 C G BTN2A1 Synonymous SNV P415P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.323 167508 chr4 8613813 8613813 G A rs149208953 CPZ Synonymous SNV S418S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 10.24 167509 chr17 72916365 72916365 C T rs201644674 USH1G Nonsynonymous SNV R86Q 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign/Likely benign 11.07 167510 chr6 114181301 114181301 - TGAGGC rs747922228 MARCKS A186_P187insEA 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 167511 chr9 15447237 15447237 A G rs377697565 SNAPC3 Nonsynonymous SNV S243G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 167512 chr9 15468784 15468784 T G PSIP1 Nonsynonymous SNV K422Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 167513 chr6 117113533 117113533 C T GPRC6A Synonymous SNV K780K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.724 167514 chr17 73616102 73616102 T C MYO15B 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.07 167515 chr6 117824946 117824946 C T rs138942330 DCBLD1 Synonymous SNV H43H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.716 167516 chr14 21991144 21991144 C G rs61736009 SALL2 Nonsynonymous SNV E904D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.661 167517 chr6 118812860 118812860 G A rs369024932 CEP85L Synonymous SNV L476L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.544 167518 chr9 2039816 2039818 CAA - rs756562013 SMARCA2 Q238del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 167519 chr6 123039060 123039060 G A rs201327015 PKIB Nonsynonymous SNV G41R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 23 167520 chr6 39033595 39033595 G A rs3765467 GLP1R Nonsynonymous SNV R131Q 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 21.3 167521 chr19 9069464 9069464 G A rs201742736 MUC16 Synonymous SNV L5994L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.303 167522 chr5 153085286 153085286 T C rs766648741 GRIA1 Synonymous SNV T414T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 4.37 167523 chr6 143095682 143095682 C A rs61729347 HIVEP2 Nonsynonymous SNV G65V 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 23.3 167524 chr6 44197400 44197400 G A rs201953037 SLC29A1 Synonymous SNV A88A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.554 167525 chr6 147646185 147646185 A G rs770039253 STXBP5 Synonymous SNV Q631Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.76 167526 chr19 1119944 1119944 T C SBNO2 Nonsynonymous SNV K353E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 167527 chr5 167689529 167689529 G A rs376795770 TENM2 Nonsynonymous SNV R2441H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 167528 chr14 37777558 37777558 T C rs751518239 MIPOL1 Nonsynonymous SNV L221S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 167529 chr14 38678654 38678654 C T rs764764235 SSTR1 Synonymous SNV S20S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 167530 chr5 169310715 169310715 G C INSYN2B Nonsynonymous SNV A63G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 167531 chr19 1627422 1627422 T C rs41275842 TCF3 Nonsynonymous SNV K101R 0.005 0.003 0.01 0 6 1 0 3 0 0 0 0 Benign 18.4 167532 chr14 39722281 39722281 C T rs374627280 MIA2 Nonsynonymous SNV A598V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 167533 chr5 133648047 133648047 C T rs201147909 CDKL3 Nonsynonymous SNV D84N 0.008 0.005 0 4 9 2 0.01 0 0 0 0 0 23 167534 chr5 171627695 171627695 A G rs77598074 EFCAB9 Synonymous SNV Q137Q 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 0.002 167535 chr5 171661265 171661265 T C rs186876886 UBTD2 Synonymous SNV E56E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.094 167536 chr19 2222372 2222372 C T rs201646049 DOT1L Synonymous SNV T1068T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 10.84 167537 chr19 12128994 12128994 G A rs199522988 ZNF433 Synonymous SNV N42N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.72 167538 chr15 55700984 55700984 G A C15orf65 Synonymous SNV R6R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.918 167539 chr19 2438418 2438418 G A rs767989080 LMNB2 Synonymous SNV R171R 0.003 0 0 0 4 0 0 0 0 0 0 0 12.31 167540 chr5 138286898 138286898 G A rs765721225 SIL1 Nonsynonymous SNV R331C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 26.8 167541 chr14 52507416 52507416 G A rs775518198 NID2 Nonsynonymous SNV T660I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 167542 chr15 62990065 62990065 C G rs374079933 TLN2 Nonsynonymous SNV L491V 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 22.2 167543 chr14 52793949 52793949 A G rs139552094 PTGER2 Nonsynonymous SNV Y285C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25.8 167544 chr15 63632599 63632599 G A rs61733915 CA12 Nonsynonymous SNV P152L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 33 167545 chr19 4174745 4174745 C A rs183444295 SIRT6 Nonsynonymous SNV A214S 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.26 167546 chr19 4174758 4174758 G C rs201141490 SIRT6 Nonsynonymous SNV N209K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 2.455 167547 chr6 56569113 56569113 T C rs112635185 DST Nonsynonymous SNV I70V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Uncertain significance 18.54 167548 chr9 96214862 96214862 A C FAM120AOS Nonsynonymous SNV W44G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.405 167549 chr19 16688347 16688347 C T rs748627855 MED26 Synonymous SNV A98A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.918 167550 chrX 103359849 103359849 T C rs61106386 ZCCHC18 Synonymous SNV C349C 0 0.003 0.007 0 0 1 0 2 0 0 1 0 0.001 167551 chr14 63246505 63246505 T C rs199774231 KCNH5 Nonsynonymous SNV T654A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 167552 chrX 109696514 109696514 G A rs141916712 RTL9 Nonsynonymous SNV R890Q 0 0.008 0 0 0 3 0 0 0 1 0 0 5.458 167553 chr5 19543983 19543983 T C CDH18 Nonsynonymous SNV E462G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 167554 chr14 64593073 64593073 A G rs774319114 SYNE2 Nonsynonymous SNV N4528S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 167555 chr15 72513530 72513530 C G rs546024325 PKM Nonsynonymous SNV S63T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 167556 chr5 34687817 34687817 T C rs10521016 RAI14 Star tloss M1? 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.987 167557 chr5 34935876 34935876 A G rs765760154 DNAJC21 Nonsynonymous SNV S85G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 167558 chr5 353851 353851 C T rs757432497 AHRR Synonymous SNV P27P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.2 167559 chr6 21595252 21595263 GGGGGCGGCCAT - rs747523746 SOX4 H166_G169del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 167560 chrX 135741274 135741274 C A CD40LG Synonymous SNV T162T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 1 19.58 167561 chr15 78921443 78921443 C T rs78196041 CHRNB4 Nonsynonymous SNV G402S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.004 167562 chr14 74516798 74516798 G C BBOF1 Nonsynonymous SNV A396P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 167563 chrX 140996099 140996099 C T rs143297640 MAGEC1 Nonsynonymous SNV P970L 0.002 0.005 0 2 2 2 0.005 0 1 0 0 1 15.18 167564 chr19 19339050 19339050 C T rs148196919 NCAN Nonsynonymous SNV T874M 0 0 0 2 0 0 0.005 0 0 0 0 0 9.998 167565 chr18 43685179 43685179 A C rs146203312 HAUS1 Nonsynonymous SNV K17T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.49 167566 chr5 156924015 156924015 C A ADAM19 Nonsynonymous SNV C494F 0 0.003 0 0 0 1 0 0 0 0 0 0 34 167567 chr14 89205337 89205337 C T rs760436559 EML5 Nonsynonymous SNV A245T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.61 167568 chr14 91739814 91739814 C T rs200543687 CCDC88C Nonsynonymous SNV G1748R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 167569 chrX 32717239 32717239 T C rs745868830 DMD Nonsynonymous SNV Y266C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 167570 chrX 37985895 37985895 G A rs143176819 SYTL5 Nonsynonymous SNV R724H 0.003 0.003 0.007 5 3 1 0.013 2 1 0 1 1 21.6 167571 chr6 41711064 41711064 G A rs149712870 PGC Nonsynonymous SNV S131F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.759 167572 chr5 169535300 169535300 C T rs149203108 FOXI1 Synonymous SNV G274G 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.77 167573 chrX 47835925 47835925 T C ZNF182 Nonsynonymous SNV K502E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 167574 chr18 61569697 61569697 A G rs138446596 SERPINB2 Nonsynonymous SNV I246M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.95 167575 chrX 53271029 53271029 T G rs782760727 IQSEC2 Synonymous SNV P984P 0 0.01 0 0 0 4 0 0 0 1 0 0 Likely benign 7.295 167576 chrX 54837260 54837260 C G MAGED2 Nonsynonymous SNV H182D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.81 167577 chrX 63551450 63551450 G A rs1016028993 MTMR8 Nonsynonymous SNV R447W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 167578 chr19 36557278 36557278 C T rs766961285 WDR62 Synonymous SNV I170I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.52 167579 chrX 69424909 69424910 AA - DGAT2L6 K323Sfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 167580 chr14 102348563 102348563 G A rs138683239 PPP2R5C Synonymous SNV P120P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.46 167581 chr7 103216023 103216023 T C rs141617635 RELN Synonymous SNV G1425G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.925 167582 chr6 44270805 44270805 C T rs78397386 AARS2 Synonymous SNV G751G 0.009 0 0 0 10 0 0 0 0 0 0 0 Benign/Likely benign 14.9 167583 chr14 103440419 103440419 C T rs34979240 CDC42BPB Synonymous SNV T525T 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 12.85 167584 chr19 38375694 38375694 G A WDR87 Nonsynonymous SNV R2873C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 167585 chr14 104639333 104639333 C T rs540747073 KIF26A Synonymous SNV I480I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 167586 chr14 104642479 104642479 C T rs375291462 KIF26A Synonymous SNV S1118S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 167587 chr19 731192 731192 C G PALM Nonsynonymous SNV P123A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.002 167588 chr19 10823451 10823451 G T QTRT1 Synonymous SNV L293L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.6 167589 chr19 877010 877010 G A rs144849703 MED16 Synonymous SNV H508H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.699 167590 chr5 82850808 82850808 A G rs768896921 VCAN Nonsynonymous SNV N488S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 167591 chr19 1005388 1005388 C T rs151255899 GRIN3B Nonsynonymous SNV R630C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 167592 chr5 33467026 33467026 T A TARS1 Nonsynonymous SNV D653E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 167593 chr19 13015347 13015347 G A rs189296436 SYCE2 Nonsynonymous SNV H89Y 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 167594 chr19 14030642 14030642 A G rs191830054 CC2D1A Nonsynonymous SNV I412V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.37 167595 chr1 2487974 2487974 C T TNFRSF14-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.894 167596 chr7 133985002 133985002 A G rs35116201 SLC35B4 Synonymous SNV L167L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.27 167597 chr6 108395700 108395700 C G rs9480830 OSTM1 Nonsynonymous SNV L52F 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 23.8 167598 chr5 40769026 40769026 T C rs552250739 PRKAA1 Nonsynonymous SNV I204V 0.011 0.008 0 1 13 3 0.003 0 0 0 0 0 10.78 167599 chr16 2369633 2369633 G A rs142073032 ABCA3 Synonymous SNV T274T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.653 167600 chr15 36950069 36950069 A G rs752227872 C15orf41 Nonsynonymous SNV I66M 0.002 0 0 0 2 0 0 0 0 0 0 0 4.099 167601 chr6 110763506 110763506 G A rs146329765 SLC22A16 Nonsynonymous SNV S375L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.29 167602 chr15 40660043 40660043 G C rs76331864 DISP2 Nonsynonymous SNV G577A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.77 167603 chr15 40917834 40917834 G A rs370402509 KNL1 Nonsynonymous SNV R1791Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.775 167604 chr15 41022135 41022135 A G RAD51 Nonsynonymous SNV I288V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 167605 chr19 44471487 44471487 A G rs778188700 ZNF221 Synonymous SNV L611L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.941 167606 chr1 10689705 10689705 A G rs41274484 PEX14 Synonymous SNV S265S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.797 167607 chr6 119345551 119345551 C T rs17855022 FAM184A Nonsynonymous SNV R76Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.708 167608 chr1 11252404 11252404 T G rs138532214 ANGPTL7 Nonsynonymous SNV F152V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 167609 chr5 63510299 63510299 T C rs142746283 RNF180 Synonymous SNV N382N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.255 167610 chr16 9197044 9197044 G A rs768883234 C16orf72 Nonsynonymous SNV A171T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 167611 chr19 45811692 45811692 C G rs149354459 CKM Nonsynonymous SNV R251P 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 167612 chr7 148524327 148524327 A G rs148843424 EZH2 Synonymous SNV P180P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.98 167613 chr7 149468112 149468117 TCTCTC - rs751936470 ZNF467 R2_E3del 0.002 0 0 0 2 0 0 0 0 0 0 0 167614 chr1 14107645 14107645 G T rs140444156 PRDM2 Nonsynonymous SNV A918S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.067 167615 chr7 149491928 149491928 G A rs147493206 SSPO 0.003 0 0 0 4 0 0 0 0 0 0 0 2.273 167616 chr5 66479635 66479635 A G rs373145754 CD180 Nonsynonymous SNV S346P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.6 167617 chr16 14678633 14678633 T C rs200678657 PARN Synonymous SNV K280K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.8 167618 chr19 18542998 18542998 C T rs375419963 SSBP4 Synonymous SNV A204A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.3 167619 chr6 137332572 137332572 C T IL20RA Stop gain W32X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 167620 chr15 50955178 50955178 G C rs201903794 TRPM7 Synonymous SNV S23S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.324 167621 chr19 19136467 19136467 C T rs201215044 SUGP2 Synonymous SNV E230E 0.003 0 0 0 3 0 0 0 0 0 0 0 9.924 167622 chr5 71016379 71016379 C T CARTPT Synonymous SNV I96I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.56 167623 chr6 139135645 139135645 G T rs772447531 ECT2L Synonymous SNV V28V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.746 167624 chr5 74325032 74325032 T G rs770825186 GCNT4 Nonsynonymous SNV E277D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 167625 chr15 53994527 53994527 T C WDR72 Nonsynonymous SNV K458R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.078 167626 chr19 48305865 48305865 T C rs970113050 TPRX1 Nonsynonymous SNV I135V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 167627 chr16 19451418 19451418 T C rs146537276 TMC5 Nonsynonymous SNV S20P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 2.634 167628 chr16 20386205 20386205 G A rs371240946 PDILT Nonsynonymous SNV T207M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.6 167629 chr5 76028718 76028718 G C rs780463885 F2R Nonsynonymous SNV C223S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 167630 chr19 31767717 31767717 G A rs61744745 TSHZ3 Synonymous SNV H994H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.125 167631 chr7 100550555 100550555 C T MUC3A Nonsynonymous SNV T379I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.855 167632 chr1 20066413 20066413 A C TMCO4 Nonsynonymous SNV S361R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 167633 chr16 22325045 22325045 G A rs150646233 POLR3E Nonsynonymous SNV E121K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 167634 chr19 49206984 49206984 C T rs756599102 FUT2 Synonymous SNV H257H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.091 167635 chr16 23079891 23079891 G C rs200327423 USP31 Nonsynonymous SNV P1179A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 19.92 167636 chr1 20649861 20649861 C T rs777233754 VWA5B1 Stop gain R327X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 40 167637 chr19 35773533 35773533 T C HAMP Nonsynonymous SNV L18P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 167638 chr1 22141197 22141197 G A LDLRAD2 Nonsynonymous SNV C131Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 167639 chr1 22178632 22178632 G A rs151177187 HSPG2 Synonymous SNV H2274H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 11.33 167640 chr15 66411439 66411439 C T rs761041127 MEGF11 Nonsynonymous SNV G96R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 167641 chr16 28890880 28890880 C T ATP2A1 Synonymous SNV L65L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.23 167642 chr6 157100559 157100559 C G rs751389585 ARID1B Nonsynonymous SNV P499R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 167643 chr19 50726549 50726549 C A MYH14 Synonymous SNV I212I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 167644 chr16 30122837 30122837 G A rs777982889 GDPD3 Synonymous SNV P193P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 167645 chr15 71184330 71184330 G C rs1033802579 THAP10 Synonymous SNV A94A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 1.056 167646 chr16 47001486 47001486 T C rs749201446 DNAJA2 Synonymous SNV R172R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.864 167647 chr1 26349417 26349417 G A rs143592255 EXTL1 Nonsynonymous SNV D94N 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 11.31 167648 chr15 83221313 83221313 C G CPEB1 Nonsynonymous SNV A298P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 167649 chr19 40580535 40580535 T A ZNF780A Nonsynonymous SNV K605I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 16.87 167650 chr16 57081478 57081478 G C NLRC5 Nonsynonymous SNV E1120D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.17 167651 chr1 32052477 32052477 G A rs139654784 TINAGL1 Nonsynonymous SNV R403K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.2 167652 chr19 41197992 41197992 G C COQ8B Nonsynonymous SNV A487G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.57 167653 chr1 32256313 32256313 C T rs754159686 SPOCD1 Nonsynonymous SNV R661H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.721 167654 chr1 33058883 33058883 T C ZBTB8A Synonymous SNV F117F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.691 167655 chr1 33236735 33236735 C T KIAA1522 Nonsynonymous SNV T593I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.511 167656 chr1 35919979 35919979 A G rs10796920 KIAA0319L Synonymous SNV T588T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.758 167657 chr6 25727348 25727348 T C rs761537792 H2BC1 Nonsynonymous SNV I71T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.37 167658 chr16 68835678 68835678 G A rs587782647 CDH1 Nonsynonymous SNV R90Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.274 167659 chr6 27840989 27840989 G A rs199627146 H4C13 Synonymous SNV G100G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.224 167660 chr6 27879360 27879360 A T rs184783783 OR2B2 Synonymous SNV I246I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.032 167661 chr6 127768336 127768336 C T rs370337031 KIAA0408 Synonymous SNV S376S 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 8.142 167662 chr1 40702575 40702575 - AGT rs760186180 RLF V735_H736insV 0 0 0 1 0 0 0.003 0 0 0 0 0 167663 chr19 12298515 12298515 C G rs772505684 ZNF136 Nonsynonymous SNV T375S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 167664 chr19 12774533 12774533 G A rs61737536 MAN2B1 Synonymous SNV T249T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 5.41 167665 chr19 12798863 12798863 A C rs115219740 GNG14 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.41 167666 chr19 12876921 12876921 G T rs745779203 HOOK2 Nonsynonymous SNV H503N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.51 167667 chr16 72822564 72822566 TGC - rs774418471 ZFHX3 Q2290del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 167668 chr7 6189506 6189506 A G rs765128993 USP42 Nonsynonymous SNV N560S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.232 167669 chr7 6684160 6684160 A G ZNF316 Synonymous SNV E214E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 167670 chr15 101113925 101113925 C T rs763607102 LINS1 Nonsynonymous SNV A385T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 167671 chr6 42073693 42073693 G A C6orf132 Nonsynonymous SNV P653S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.996 167672 chr19 48182859 48182859 G A rs60219834 BICRA Synonymous SNV T144T 0.003 0 0.01 1 3 0 0.003 3 0 0 1 0 1.342 167673 chr19 48205456 48205456 C T rs181534456 BICRA Synonymous SNV S1489S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 19.34 167674 chr19 16687142 16687142 G A rs762876909 MED26 Nonsynonymous SNV S500L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 167675 chr1 53554562 53554562 T A SLC1A7 Nonsynonymous SNV D412V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 167676 chr1 53554566 53554566 G A rs781446041 SLC1A7 Nonsynonymous SNV R411W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 167677 chr6 42985295 42985295 G A rs142265148 KLHDC3 Nonsynonymous SNV A65T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.194 167678 chr7 80374528 80374528 T C rs147454288 SEMA3C Synonymous SNV T664T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.15 167679 chr6 43306678 43306678 A G rs113147071 ZNF318 Synonymous SNV Y1686Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 167680 chr7 82580293 82580293 A T rs199626449 PCLO Nonsynonymous SNV V3204D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 11.88 167681 chr7 87037401 87037401 C T rs376825608 ABCB4 Synonymous SNV T1030T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.36 167682 chr16 1250271 1250271 C T rs72552033 CACNA1H Synonymous SNV T273T 0.003 0 0.014 2 3 0 0.005 4 0 0 0 0 Benign 7.963 167683 chr1 59787404 59787404 G A rs199810745 FGGY Synonymous SNV A61A 0 0 0 2 0 0 0.005 0 0 0 0 0 10.59 167684 chr6 45390418 45390418 - CAGCAGCAGCAACAG RUNX2 Q57_E58insQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 167685 chr19 49392883 49392883 G T rs533360637 TULP2 Nonsynonymous SNV R174S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 167686 chr19 49392884 49392884 G T rs551943695 TULP2 Synonymous SNV T173T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 167687 chr19 18900827 18900827 G A COMP Nonsynonymous SNV T105M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 167688 chr1 62740615 62740615 C T KANK4 Nonsynonymous SNV R54K 0 0.003 0 4 0 1 0.01 0 0 0 0 0 28.2 167689 chr16 1584378 1584378 G A rs1027501499 TMEM204 Synonymous SNV T34T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.48 167690 chr6 161470845 161470845 A G rs201794382 MAP3K4 Nonsynonymous SNV E514G 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 17.23 167691 chr6 55147138 55147138 G T rs146899452 HCRTR2 Nonsynonymous SNV L407F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.42 167692 chr19 51329146 51329146 C T rs113529853 KLK15 Nonsynonymous SNV G225D 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 167693 chr20 2605001 2605001 C T rs555212967 TMC2 Synonymous SNV L755L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.16 167694 chr6 170871046 170871046 - CAGCAGCAGCAGCAG TBP Q75_A76insQQQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 167695 chr17 1628976 1628976 C T rs867454046 WDR81 Synonymous SNV S241S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 167696 chr8 10467598 10467598 T A RP1L1 Nonsynonymous SNV Q1337L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 167697 chr8 10469269 10469269 G A rs944658208 RP1L1 Nonsynonymous SNV T780I 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 4.69 167698 chr17 2604713 2604713 G A rs183173705 CLUH Synonymous SNV A282A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.393 167699 chr6 7405579 7405579 T C rs141923788 RIOK1 Synonymous SNV Y294Y 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 0.015 167700 chr20 8862344 8862344 G A PLCB1 Nonsynonymous SNV E1167K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 167701 chr6 74493537 74493537 C T rs138465270 CD109 Nonsynonymous SNV T661I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.25 167702 chr19 35790735 35790735 G A MAG Nonsynonymous SNV A207T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 167703 chr6 26235094 26235094 T C H1-3 Nonsynonymous SNV K23R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.708 167704 chr20 16496294 16496294 C T rs377631501 KIF16B Nonsynonymous SNV G83S 0 0.003 0 5 0 1 0.013 0 0 0 0 0 34 167705 chr8 120638927 120638927 C T rs77358867 ENPP2 Nonsynonymous SNV G57E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 167706 chr6 80720568 80720568 T C rs56195800 TTK Synonymous SNV A169A 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 5.494 167707 chr16 15785104 15785104 G A rs768268553 NDE1 Synonymous SNV T209T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.845 167708 chr8 124250077 124250077 C T rs770396131 C8orf76, ZHX1-C8orf76 Synonymous SNV L106L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 167709 chr1 101004826 101004826 C T rs755839599 GPR88 Nonsynonymous SNV P102S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.26 167710 chr6 33638505 33638505 C G rs143245431 ITPR3 Synonymous SNV T833T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 9.774 167711 chr6 33659603 33659603 G A rs35216305 ITPR3 Synonymous SNV E2452E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 11.42 167712 chr17 4923973 4923973 G A KIF1C Nonsynonymous SNV R646K 0.003 0 0 0 3 0 0 0 0 0 0 0 23 167713 chr7 100184288 100184288 G T FBXO24 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.67 167714 chr6 36179170 36179170 G A rs142209749 BRPF3 Nonsynonymous SNV R772H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.3 167715 chr8 133111178 133111178 C T rs367849861 HHLA1 Synonymous SNV A77A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 167716 chr8 13357353 13357353 C A rs775467881 DLC1 Nonsynonymous SNV R76S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 167717 chr7 48316080 48316080 T C rs983403030 ABCA13 Nonsynonymous SNV S2273P 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 19.57 167718 chr6 36767819 36767819 G A rs765327095 CPNE5 Nonsynonymous SNV T71M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.6 167719 chr8 143436043 143436043 G A rs141926338 TSNARE1 Nonsynonymous SNV R15C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 167720 chr1 116226609 116226609 G T rs764418712 VANGL1 Nonsynonymous SNV A329S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.2 167721 chr1 116226610 116226610 C T rs751924255 VANGL1 Nonsynonymous SNV A329V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.3 167722 chr1 116947051 116947051 G A rs9567 ATP1A1 Synonymous SNV K1019K 0.009 0.013 0 5 10 5 0.013 0 0 0 0 0 10.49 167723 chr16 48220982 48220982 C T rs757882968 ABCC11 Nonsynonymous SNV G985S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 167724 chr7 72856859 72856859 G A rs782424974 BAZ1B Synonymous SNV A1373A 0.003 0 0 0 4 0 0 0 0 0 0 0 12.12 167725 chr19 41726723 41726723 G A AXL Nonsynonymous SNV E90K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 167726 chr8 144801568 144801568 C T rs782727860 MAPK15 Nonsynonymous SNV R213W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 167727 chr1 145585529 145585529 C T rs782475849 PIAS3 Synonymous SNV A598A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.58 167728 chr20 44692202 44692202 A G rs34503366 NCOA5 Nonsynonymous SNV M211T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 167729 chr8 144941188 144941188 C G rs373075113 EPPK1 Synonymous SNV T2078T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.62 167730 chr8 144941299 144941299 A G rs368863679 EPPK1 Synonymous SNV Y2041Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 167731 chr8 144941623 144941623 C T rs369842241 EPPK1 Synonymous SNV A1933A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.38 167732 chr20 45362418 45362418 G A rs370141550 SLC2A10 Nonsynonymous SNV R524K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.836 167733 chr19 56543991 56543991 C T rs374750654 NLRP5 Nonsynonymous SNV T764I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.23 167734 chr20 46305367 46305367 G A rs6125071 SULF2 Synonymous SNV G417G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.52 167735 chr8 144994583 144994583 C T rs200680102 PLEC Nonsynonymous SNV A3122T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.8 167736 chr17 11631147 11631147 A C DNAH9 Nonsynonymous SNV I1908L 0.003 0 0 0 3 0 0 0 0 0 0 0 29.1 167737 chr1 152586488 152586488 C T rs201393572 LCE3B Nonsynonymous SNV R68C 0.004 0 0 3 5 0 0.008 0 2 0 0 1 21.5 167738 chr8 145621648 145621648 G A rs145947364 CPSF1 Nonsynonymous SNV P965L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 167739 chr7 106300783 106300783 G C rs767770138 CCDC71L Nonsynonymous SNV T187R 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 19.04 167740 chr7 92062560 92062560 A G rs1012268154 TMBIM7P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.528 167741 chr7 107720220 107720220 C T rs34856038 LAMB4 Synonymous SNV T571T 0 0.008 0 2 0 3 0.005 0 0 0 0 0 Benign 11.79 167742 chr7 92300765 92300765 T C CDK6 Nonsynonymous SNV I208V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.08 167743 chr19 58549542 58549542 T C ZSCAN1 Nonsynonymous SNV V113A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22.8 167744 chr7 112412932 112412932 A C rs141642192 TMEM168 Nonsynonymous SNV F484V 0 0.008 0 2 0 3 0.005 0 0 0 0 0 26.4 167745 chr19 58826130 58826130 A T ERVK3-1, ZNF8-ERVK3-1 0.002 0 0 0 2 0 0 0 0 0 0 0 9.292 167746 chr7 92848587 92848587 T G rs10281525 HEPACAM2 Nonsynonymous SNV K74T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.74 167747 chr19 45662216 45662216 G A rs763138932 NKPD1 Synonymous SNV S78S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.409 167748 chr8 18729350 18729350 G A rs146066561 PSD3 Nonsynonymous SNV R309C 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 Likely benign 0.045 167749 chr19 47735846 47735846 A G rs45477493 BBC3 Nonsynonymous SNV M5T 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.054 167750 chr21 22658669 22658669 A G rs200645709 NCAM2 Nonsynonymous SNV S140G 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 23.7 167751 chr8 10480495 10480495 G A rs202082944 RP1L1 Nonsynonymous SNV P73S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 167752 chr7 134851609 134851609 T C CYREN Synonymous SNV E63E 0.003 0.008 0 5 3 3 0.013 0 0 0 0 0 0.02 167753 chr1 157068576 157068576 C T rs149030440 ETV3L Synonymous SNV A136A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.1 167754 chr8 11687923 11687923 T A rs73207296 FDFT1 Synonymous SNV I124I 0.005 0.005 0.014 1 6 2 0.003 4 0 0 0 0 13.04 167755 chr20 6022115 6022115 C T rs775646478 LRRN4 Synonymous SNV T592T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 167756 chr19 49944586 49944586 C T rs773503866 SLC17A7 Synonymous SNV G17G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.19 167757 chr21 34921921 34921921 A G SON Synonymous SNV K128K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.901 167758 chr16 85690940 85690940 C T rs138181231 GSE1 Nonsynonymous SNV P353L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 167759 chr19 50155728 50155728 G T SCAF1 Synonymous SNV T694T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.926 167760 chr8 28928131 28928131 T C KIF13B Nonsynonymous SNV S1791G 0.004 0 0 0 5 0 0 0 0 0 0 0 7.184 167761 chr21 36252870 36252870 G A rs200907577 RUNX1 Synonymous SNV V137V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 15.12 167762 chr7 100218512 100218512 C T rs80338891 TFR2 Nonsynonymous SNV G621R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely pathogenic 34 167763 chr20 30433295 30433295 G A FOXS1 Synonymous SNV T17T 0.003 0 0 0 3 0 0 0 0 0 0 0 3.035 167764 chr7 150069471 150069471 G T rs778653475 REPIN1 Nonsynonymous SNV G381C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 167765 chr8 143762745 143762745 G A rs369515007 PSCA Nonsynonymous SNV G9D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.7 167766 chr7 152550626 152550626 C T rs763921612 ACTR3B Synonymous SNV Y287Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.41 167767 chr20 34797811 34797811 C G EPB41L1 Synonymous SNV P616P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.245 167768 chr20 36869262 36869262 C T rs768457929 KIAA1755 Nonsynonymous SNV R424H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.278 167769 chr7 158734660 158734660 C T rs762674535 WDR60 Synonymous SNV S750S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 167770 chr8 144942757 144942757 C G EPPK1 Nonsynonymous SNV K1555N 0.003 0 0 0 4 0 0 0 0 0 0 0 11.98 167771 chr19 55386822 55386822 G A FCAR 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 167772 chr9 100437789 100437789 G C rs3176750 XPA Nonsynonymous SNV L252V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.007 167773 chr9 100845302 100845302 T C rs34342219 NANS Synonymous SNV L349L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.16 167774 chr9 100894541 100894541 G A rs140442254 CORO2A Synonymous SNV L231L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.11 167775 chr17 3807318 3807318 C T rs200490887 P2RX1 Nonsynonymous SNV G143D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 167776 chr9 100983199 100983199 C T rs749453138 TBC1D2 Synonymous SNV T430T 0.005 0 0 0 6 0 0 0 0 0 0 0 12.33 167777 chr8 144998980 144998980 T A PLEC Nonsynonymous SNV Q1692L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.2 167778 chr20 45867792 45867792 G A rs777043855 ZMYND8 Nonsynonymous SNV A720V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.86 167779 chr20 46279860 46279860 - CAGCAA NCOA3 Q1275_T1276insQQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 167780 chr19 55865252 55865252 - G rs576407591 COX6B2 Frameshift insertion L66Afs*36 0.001 0.003 0 0 1 1 0 0 0 0 0 0 167781 chr1 197087024 197087024 G A rs148964635 ASPM Synonymous SNV L1320L 0 0 0 6 0 0 0.015 0 0 0 0 0 Benign/Likely benign 5.077 167782 chr7 107262391 107262391 T C BCAP29 Nonsynonymous SNV L336P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.086 167783 chr19 55902942 55902942 G A RPL28 Synonymous SNV G115G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.299 167784 chr8 145641517 145641517 G A SLC39A4 Synonymous SNV L26L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.95 167785 chr19 56188555 56188555 G A EPN1 Stop gain W6X 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 167786 chr20 52781051 52781051 T C rs868568479 CYP24A1 Nonsynonymous SNV S262G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 167787 chr22 24159077 24159077 C T rs751957685 SMARCB1 Nonsynonymous SNV T241M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.6 167788 chr17 6428757 6428757 T C rs554054119 PITPNM3 Nonsynonymous SNV I49V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 167789 chr1 203691612 203691612 A G rs138580420 ATP2B4 Nonsynonymous SNV K940R 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 Likely benign 12.76 167790 chr17 7106759 7106759 G A DLG4 Synonymous SNV L103L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.453 167791 chr22 29687577 29687577 A G rs201549256 EWSR1 Nonsynonymous SNV N278S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.388 167792 chr7 130021645 130021645 C T rs141886698 CPA1 Nonsynonymous SNV R108W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.6 167793 chr7 44684995 44684995 C A OGDH Nonsynonymous SNV P98T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.56 167794 chr20 61576133 61576133 C T rs772878499 GID8 Nonsynonymous SNV R186C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 167795 chr17 60767647 60767647 G A rs374605770 MRC2 Synonymous SNV A1291A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 167796 chr1 210187118 210187118 A G rs149170280 SYT14 Nonsynonymous SNV R68G 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 19.41 167797 chr20 62197268 62197268 C T rs780174596 HELZ2 Synonymous SNV G400G 0.003 0 0 0 3 0 0 0 0 0 0 0 9.934 167798 chr17 62020422 62020422 G A rs545724550 SCN4A Nonsynonymous SNV T1351M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 167799 chr22 34000484 34000484 C T rs8142483 LARGE1 Synonymous SNV T184T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 19.62 167800 chr9 131186753 131186753 G A rs148040801 CERCAM Nonsynonymous SNV R131H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 167801 chr17 17786133 17786133 T C rs746114940 TOM1L2 Synonymous SNV Q132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.518 167802 chr17 17997146 17997146 C G rs2230315 DRG2 Synonymous SNV G28G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.51 167803 chr17 18023876 18023876 C A rs774157005 MYO15A Synonymous SNV R588R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.195 167804 chr17 18025527 18025527 A G rs76468019 MYO15A Nonsynonymous SNV Q1138R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.001 167805 chr22 42263232 42263232 G A rs373113186 SREBF2 Synonymous SNV T162T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 167806 chr9 131745192 131745192 C T rs938927870 NUP188 Nonsynonymous SNV H561Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 167807 chr21 35144451 35144451 C T rs764147892 ITSN1 Nonsynonymous SNV R377C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.8 167808 chr20 17639653 17639653 T C rs111380927 RRBP1 Synonymous SNV K500K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.506 167809 chr1 228511200 228511200 A G rs147339276 OBSCN Nonsynonymous SNV H5182R 0 0 0 2 0 0 0.005 0 0 0 0 0 26 167810 chr8 72951118 72951118 T C rs148262779 TRPA1 Synonymous SNV S759S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Benign 1.496 167811 chr20 23016780 23016780 C T rs200516243 SSTR4 Synonymous SNV F220F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.18 167812 chr7 154585854 154585854 G A DPP6 Nonsynonymous SNV R294Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 34 167813 chr20 25656758 25656758 C A rs746765447 ZNF337 Nonsynonymous SNV G389V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 167814 chr20 25657112 25657112 C T rs147339647 ZNF337 Nonsynonymous SNV R271Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 167815 chr9 135374906 135374906 G A rs11243798 CFAP77 Nonsynonymous SNV R148H 0.003 0 0 0 4 0 0 0 0 0 0 0 34 167816 chr20 30898238 30898238 G A rs1054649511 KIF3B Nonsynonymous SNV V220I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.41 167817 chr7 1586813 1586813 G A rs763409858 TMEM184A Synonymous SNV P339P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.112 167818 chr7 17874395 17874395 T C rs201637072 SNX13 Nonsynonymous SNV I485V 0.008 0.005 0 0 9 2 0 0 0 0 0 0 4.832 167819 chr20 31680352 31680352 C T rs756055417 BPIFB4 Nonsynonymous SNV P411L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 167820 chr8 9605662 9605662 G A rs772935696 TNKS Synonymous SNV A924A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.399 167821 chr20 34240812 34240812 A C RBM12 Synonymous SNV G811G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 167822 chr17 77755613 77755613 G A rs200711963 CBX2 Nonsynonymous SNV A101T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.167 167823 chr7 98529225 98529225 G A rs782371585 TRRAP Synonymous SNV S1263S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.35 167824 chr1 245319813 245319813 G C KIF26B Nonsynonymous SNV G98A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 167825 chr21 45978510 45978510 G T rs377599185 KRTAP10-3 Nonsynonymous SNV P30H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.63 167826 chr7 24745971 24745971 A G GSDME Nonsynonymous SNV S175P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.002 167827 chr9 139306547 139306547 C T rs778953110 PMPCA Nonsynonymous SNV A57V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 167828 chr20 39984666 39984666 G A rs751547953 LPIN3 Nonsynonymous SNV D600N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 167829 chr7 99764303 99764303 C T GAL3ST4 Nonsynonymous SNV S84N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.683 167830 chr1 247267338 247267338 G C ZNF669 Nonsynonymous SNV A55G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 167831 chr1 247267342 247267342 G C ZNF669 Nonsynonymous SNV R54G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 167832 chr9 140008478 140008478 G T rs144093486 DPP7 Synonymous SNV R108R 0.004 0 0 0 5 0 0 0 0 0 0 0 10.6 167833 chrX 56292093 56292093 G A rs140327143 KLF8 Nonsynonymous SNV V183M 0.002 0 0.003 2 2 0 0.005 1 1 0 0 1 12.42 167834 chr1 248551324 248551324 C T rs140972140 OR2T6 Nonsynonymous SNV R139W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 167835 chr20 50408308 50408308 C T rs768140710 SALL4 Synonymous SNV Q238Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.691 167836 chr20 56188312 56188312 C A ZBP1 Stop gain G118X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 167837 chr9 32550843 32550843 G T rs746835403 TOPORS Synonymous SNV R43R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 16.62 167838 chr18 5397092 5397092 T C rs200496501 EPB41L3 Nonsynonymous SNV I714V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.002 167839 chr2 15607794 15607794 A C rs143212851 NBAS Nonsynonymous SNV F671C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 27.4 167840 chr22 24224989 24224989 C T rs140740332 SLC2A11 Nonsynonymous SNV P306L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.2 167841 chr22 24530313 24530313 G A rs145636161 CABIN1 Synonymous SNV P1509P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.3 167842 chr9 35231123 35231123 T A rs200386049 UNC13B Nonsynonymous SNV F20Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.7 167843 chr9 35236577 35236577 G A rs202003955 UNC13B Synonymous SNV S88S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.19 167844 chr22 26228886 26228886 A G rs199523038 MYO18B Synonymous SNV E994E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.56 167845 chr2 21227517 21227517 G A rs72654416 APOB Nonsynonymous SNV T3940M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign/Likely benign 0.004 167846 chr22 29688554 29688554 G A EWSR1 Nonsynonymous SNV D319N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 167847 chr8 142202985 142202985 C T DENND3 Nonsynonymous SNV P1287S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.451 167848 chr8 142228113 142228113 G A SLC45A4 Synonymous SNV P491P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.111 167849 chr22 30803469 30803469 C T rs144595900 SEC14L2 Synonymous SNV Y46Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.93 167850 chr8 144297235 144297235 T G GPIHBP1 Nonsynonymous SNV S133A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 167851 chr22 30975889 30975889 T C PES1 Synonymous SNV S396S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.204 167852 chr22 31485925 31485925 C T SMTN Nonsynonymous SNV P294S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.066 167853 chr10 101136848 101136848 G A rs759314624 CNNM1 Nonsynonymous SNV R738H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 167854 chr22 31723268 31723268 G A rs758278573 PATZ1 Nonsynonymous SNV P512L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21 167855 chr10 102705132 102705132 C G rs367702979 SLF2 Nonsynonymous SNV R935G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.14 167856 chr22 36055164 36055164 G A rs190149914 APOL6 Nonsynonymous SNV V185I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 167857 chr7 6547908 6547908 G C rs184043502 GRID2IP Nonsynonymous SNV P751R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 167858 chr18 43667165 43667165 G A rs587776960 ATP5F1A Nonsynonymous SNV R279C 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 26.6 167859 chr22 37966640 37966640 G T LGALS2 Nonsynonymous SNV N64K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.01 167860 chr8 145112802 145112802 G A rs201269759 OPLAH Synonymous SNV P371P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.222 167861 chr22 38131253 38131253 C G rs374217208 TRIOBP Nonsynonymous SNV T1637S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.716 167862 chr2 32449832 32449832 C A rs61754192 NLRC4 Nonsynonymous SNV A264S 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 Benign 0.381 167863 chr22 38382235 38382235 C T rs565346600 POLR2F Nonsynonymous SNV P123L 0.003 0 0 0 3 0 0 0 0 0 0 0 16.92 167864 chr10 1126383 1126383 A G rs73578536 WDR37 Synonymous SNV K121K 0.003 0 0 0 3 0 0 0 0 0 0 0 6.569 167865 chr21 33755761 33755761 C A rs185028523 URB1 Synonymous SNV L179L 0.006 0.01 0 0 7 4 0 0 0 0 0 0 15.99 167866 chr2 33810188 33810188 G T rs371580105 FAM98A Nonsynonymous SNV F209L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.4 167867 chr8 145806293 145806293 T C rs757488630 ARHGAP39 Nonsynonymous SNV Q150R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.123 167868 chr21 37581015 37581015 C T rs200685392 DOP1B Nonsynonymous SNV T165M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 167869 chr22 42042933 42042933 C T XRCC6 Synonymous SNV I219I 0.003 0 0 0 3 0 0 0 0 0 0 0 10.92 167870 chr2 40392088 40392088 T A rs5557 SLC8A1 Nonsynonymous SNV E656V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.9 167871 chr2 40657407 40657407 C T rs139897746 SLC8A1 Nonsynonymous SNV R5Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.065 167872 chr10 11805425 11805425 C T rs138286174 ECHDC3 Nonsynonymous SNV T265M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.14 167873 chr17 63193296 63193296 G A RGS9 Nonsynonymous SNV E302K 0.002 0 0 0 2 0 0 0 0 0 0 0 33 167874 chr17 64800041 64800041 C T rs145639499 PRKCA Synonymous SNV P635P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 167875 chr17 65908269 65908269 G A rs142570105 BPTF Synonymous SNV L1423L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.537 167876 chr18 66354923 66354923 C G rs1029081496 TMX3 Nonsynonymous SNV L98F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 167877 chr7 99013838 99013838 C G BUD31 Nonsynonymous SNV R58G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 167878 chr7 99054162 99054162 G A rs771030244 CPSF4 Nonsynonymous SNV R227H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 5.306 167879 chr21 43863452 43863452 G A rs779550815 UBASH3A Synonymous SNV P516P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.305 167880 chr2 61259026 61259026 C T rs771451906 PEX13 Nonsynonymous SNV R189W 0 0 0 2 0 0 0.005 0 0 0 0 0 29.6 167881 chr10 124339184 124339184 C A rs772907219 DMBT1 Nonsynonymous SNV T257N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.4 167882 chr21 44840232 44840232 G A rs567695572 SIK1, SIK1B Nonsynonymous SNV P285L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.01 167883 chr18 72515982 72515982 C G rs373502908 ZNF407 Nonsynonymous SNV S1647W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.02 167884 chr18 72589240 72589240 G A rs767992686 ZNF407 Synonymous SNV P1655P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.54 167885 chr10 125526606 125526606 G A rs755603645 CPXM2 Synonymous SNV N454N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.424 167886 chr8 105509637 105509637 G T rs776347769 LRP12 Synonymous SNV P362P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.87 167887 chrX 135762909 135762909 G A rs774734407 ARHGEF6 Nonsynonymous SNV S408L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.35 167888 chr10 13336552 13336552 C T rs375508574 PHYH Nonsynonymous SNV G97E 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.9 167889 chr10 134622081 134622081 C T rs146074411 CFAP46 Synonymous SNV S2664S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.618 167890 chr17 73728022 73728022 G A rs147963396 ITGB4 Nonsynonymous SNV G449S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Uncertain significance 3.574 167891 chr8 28928264 28928264 G T rs536738883 KIF13B Synonymous SNV I1746I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.1 167892 chr2 79314040 79314040 T G rs139007123 REG1B Synonymous SNV T27T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.646 167893 chrX 11316724 11316724 C T AMELX Synonymous SNV P51P 0.003 0.003 0 0 3 1 0 0 1 0 0 0 12.14 167894 chr17 74922752 74922752 G A MGAT5B Nonsynonymous SNV G422S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 33 167895 chr8 33353075 33353075 G A MAK16 Nonsynonymous SNV A155T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 167896 chr10 135352375 135352375 C T rs149793864 CYP2E1 Synonymous SNV L463L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.78 167897 chr10 17199769 17199769 G A rs200499175 TRDMT1 Synonymous SNV F105F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.81 167898 chr2 88474256 88474256 G A rs35541720 THNSL2 Nonsynonymous SNV V108I 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 10.47 167899 chr9 35547497 35547497 T G RUSC2 Nonsynonymous SNV S327A 0.003 0 0 0 3 0 0 0 0 0 0 0 20.7 167900 chr10 24508606 24508606 G A rs756645933 KIAA1217 Nonsynonymous SNV R41H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 167901 chr2 96933097 96933097 C T rs747097098 CIAO1 Nonsynonymous SNV H60Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 167902 chrX 53349887 53349887 G A rs782726368 IQSEC2 Synonymous SNV T145T 0.004 0.013 0.014 1 5 5 0.003 4 1 2 1 0 Likely benign 12.93 167903 chr8 6682793 6682793 G A XKR5 Synonymous SNV A107A 0 0.008 0 1 0 3 0.003 0 0 0 0 0 10.5 167904 chr9 428479 428479 C T rs765335127 DOCK8 Nonsynonymous SNV R1386C 0.007 0 0 0 8 0 0 0 0 0 0 0 35 167905 chr22 26118294 26118294 C T rs190960355 GRK3 Synonymous SNV N535N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.41 167906 chrX 37850140 37850140 G C rs143519572 H2AP Nonsynonymous SNV Q16H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.62 167907 chrX 37953663 37953663 C T rs143034665 SYTL5 Nonsynonymous SNV T316I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 167908 chrX 38019352 38019352 G A rs150132527 SRPX Synonymous SNV I271I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 167909 chrX 47041168 47041168 C T rs540587642 RBM10 Synonymous SNV P455P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.93 167910 chr2 102626146 102626146 C T rs374001314 IL1R2 Nonsynonymous SNV R64C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.9 167911 chr19 3730570 3730570 A G TJP3 Nonsynonymous SNV H160R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 167912 chrX 48924792 48924792 A G CCDC120 Nonsynonymous SNV D381G 0.003 0.01 0 0 3 4 0 0 1 0 0 0 23.4 167913 chr22 29121265 29121265 C T rs368570187 CHEK2 Nonsynonymous SNV R137Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.16 167914 chrX 50339953 50339953 T C SHROOM4 Nonsynonymous SNV I1408M 0.007 0.018 0 1 8 7 0.003 0 2 2 0 0 11.89 167915 chr10 32317447 32317447 T G rs766720739 KIF5B Nonsynonymous SNV N545T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.4 167916 chr8 95654193 95654193 T A ESRP1 Nonsynonymous SNV L48M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 167917 chr2 110303082 110303082 C T rs142598346 SEPTIN10 Nonsynonymous SNV V463I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11 167918 chr10 43870071 43870071 C T rs140710266 FXYD4 Synonymous SNV D27D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.835 167919 chr22 31091482 31091482 - T OSBP2 Frameshift insertion K197Efs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 167920 chr19 4817670 4817670 G A rs140524280 TICAM1 Synonymous SNV P240P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.766 167921 chr9 86301034 86301034 T C rs759273610 UBQLN1 Nonsynonymous SNV T73A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.157 167922 chrX 84329019 84329019 G A rs373265700 APOOL Nonsynonymous SNV V168I 0.004 0.003 0 0 5 1 0 0 2 0 0 0 0.369 167923 chrX 136112732 136112732 C T rs149334737 GPR101 Nonsynonymous SNV E368K 0.003 0 0 0 3 0 0 0 1 0 0 0 21.5 167924 chr9 105767437 105767437 C T rs149924620 CYLC2 Nonsynonymous SNV A175V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.513 167925 chr18 9257297 9257297 T G rs143133914 ANKRD12 Synonymous SNV P1321P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.53 167926 chrX 100105262 100105262 C - NOX1 W300Cfs*6 0.005 0 0.003 4 6 0 0.01 1 2 0 0 1 167927 chr10 55571357 55571357 A G rs546002004 PCDH15 Nonsynonymous SNV I1483T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.257 167928 chr10 111647839 111647839 T C rs370932957 XPNPEP1 Nonsynonymous SNV K93R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.01 167929 chr10 112590871 112590871 G A rs377742289 RBM20 Synonymous SNV L1168L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 10.64 167930 chr10 112657881 112657881 A T rs12263197 MIR4680 0.002 0 0 0 2 0 0 0 0 0 0 0 2.855 167931 chr10 64415360 64415360 G A rs137908562 ZNF365 Synonymous SNV T120T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.868 167932 chr10 105956656 105956656 C G rs141585073 CFAP43 Nonsynonymous SNV W416C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.39 167933 chr18 31326289 31326289 T C rs376585959 ASXL3 Synonymous SNV F2159F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.201 167934 chr10 105956657 105956657 C A rs150897509 CFAP43 Nonsynonymous SNV W416L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.767 167935 chr10 70243284 70243284 G A rs778512677 SLC25A16 Nonsynonymous SNV R168C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 167936 chr10 117278809 117278809 G A rs369790974 ATRNL1 Nonsynonymous SNV V1231M 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 167937 chr2 165697678 165697678 T C rs113702130 COBLL1 Nonsynonymous SNV D10G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.05 167938 chr18 47796017 47796017 G A rs72923678 MBD1 Synonymous SNV C571C 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 4.574 167939 chr2 170127556 170127556 C A rs144451000 LRP2 Nonsynonymous SNV L726F 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.96 167940 chr10 124351950 124351950 C T rs199704744 DMBT1 Nonsynonymous SNV T770M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.473 167941 chr19 9076523 9076523 G C rs200774000 MUC16 Nonsynonymous SNV S3641R 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 2.85 167942 chr19 9090128 9090128 G T rs199777644 MUC16 Nonsynonymous SNV P563T 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 0.007 167943 chr9 129752233 129752233 A G rs1051592405 RALGPS1 Nonsynonymous SNV H93R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.87 167944 chrX 6975813 6975813 G A rs1010100471 PUDP Nonsynonymous SNV R188W 0 0.003 0 0 0 1 0 0 0 0 0 0 0.606 167945 chr9 130482602 130482602 C T rs201199680 TTC16 Synonymous SNV N182N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.616 167946 chr9 130494875 130494875 A T rs199671418 TOR2A Nonsynonymous SNV V68D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.293 167947 chrX 11157341 11157341 A G ARHGAP6 Nonsynonymous SNV V676A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 167948 chr9 130635023 130635023 C T rs61741083 AK1 Synonymous SNV S67S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.77 167949 chr10 91193081 91193081 G A rs200476766 SLC16A12 Nonsynonymous SNV R431W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 167950 chr19 10476325 10476325 G A rs375414145 TYK2 Synonymous SNV I293I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.889 167951 chr10 127555688 127555688 G A DHX32 Nonsynonymous SNV T116I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.7 167952 chr10 128973948 128973948 C T rs745852102 INSYN2A Nonsynonymous SNV E238K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 167953 chrX 31090047 31090047 C A rs778057150 FTHL17 Nonsynonymous SNV Q8H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.341 167954 chr19 11303676 11303676 G A rs370878156 KANK2 Synonymous SNV Y360Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 167955 chr2 183616847 183616847 A C rs371935982 DNAJC10 Nonsynonymous SNV N449H 0 0 0 2 0 0 0.005 0 0 0 0 0 20.9 167956 chrX 48460322 48460322 G A rs150193416 WDR13 Nonsynonymous SNV V236I 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Likely benign 0.306 167957 chrX 48849900 48849900 C T rs782758943 GRIPAP1 Nonsynonymous SNV V133M 0 0.003 0.007 0 0 1 0 2 0 0 1 0 24.9 167958 chr8 59515860 59515860 G A rs150048294 NSMAF Synonymous SNV H349H 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.29 167959 chr10 13779898 13779898 C T rs61755072 FRMD4A Synonymous SNV L251L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 13.18 167960 chr10 99130285 99130285 G A rs367843722 RRP12 Synonymous SNV G772G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.81 167961 chrX 65242343 65242343 C G VSIG4 0 0.003 0 0 0 1 0 0 0 0 0 0 15.43 167962 chr2 196774877 196774877 A G rs200575809 DNAH7 Synonymous SNV P1326P 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.233 167963 chrX 71354523 71354523 G A rs180677846 NHSL2 Synonymous SNV T243T 0.006 0.003 0 1 7 1 0.003 0 2 0 0 0 12.22 167964 chr2 198272725 198272725 A G SF3B1 Synonymous SNV Y412Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.686 167965 chrX 72667566 72667566 G T CDX4 Nonsynonymous SNV W159C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.9 167966 chrX 73965444 73965444 G A rs370708043 NEXMIF Synonymous SNV N14N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.944 167967 chr10 17191113 17191113 G A TRDMT1 Stop gain Q287X 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 44 167968 chr2 202050642 202050642 C T rs200012872 CASP10 Nonsynonymous SNV P48S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 0.001 167969 chr10 17271373 17271373 C A rs375938720 VIM-AS1 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.033 167970 chrX 86773115 86773120 ACTGGC - rs746719631 KLHL4 L74_A75del 0 0.003 0 0 0 1 0 0 0 0 0 0 167971 chr2 206614470 206614470 C G rs372509246 NRP2 Nonsynonymous SNV T603R 0 0 0 2 0 0 0.005 0 0 0 0 0 32 167972 chr2 206870015 206870015 T C rs748416042 INO80D Nonsynonymous SNV I721V 0 0 0 2 0 0 0.005 0 0 0 0 0 14.07 167973 chrX 129045040 129045040 T A UTP14A Nonsynonymous SNV S99T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 167974 chr10 35929870 35929870 G A FZD8 Nonsynonymous SNV P163L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.99 167975 chrX 135429475 135429475 A T rs143441217 ADGRG4 Nonsynonymous SNV T1204S 0.002 0.013 0.014 1 2 5 0.003 4 0 1 2 0 5.449 167976 chr10 43701471 43701471 C T rs117610424 RASGEF1A Nonsynonymous SNV G40S 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 0.011 167977 chr10 43701478 43701478 G A rs74509719 RASGEF1A Synonymous SNV G37G 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 8.238 167978 chr19 19381028 19381028 C T rs117846705 TM6SF2 Nonsynonymous SNV V119I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.87 167979 chr19 21131873 21131873 A G rs141559205 ZNF85 Nonsynonymous SNV M121V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 167980 chr9 2622167 2622167 - CGGCAC VLDLR-AS1 0 0.005 0 0 0 2 0 0 0 0 0 0 167981 chr11 104034535 104034535 C T PDGFD Nonsynonymous SNV D41N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.33 167982 chrX 153135331 153135331 G A rs182851917 L1CAM Synonymous SNV A345A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.813 167983 chrX 153585871 153585871 C T FLNA Nonsynonymous SNV E1626K 0 0.003 0 0 0 1 0 0 0 0 0 0 32 167984 chrX 153690500 153690500 G A rs139573527 PLXNA3 Synonymous SNV L389L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 167985 chr11 108409888 108409888 T A rs778523105 EXPH5 Nonsynonymous SNV R26S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 167986 chr9 35906586 35906586 - CCACCA HRCT1 H105_P106insHH 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 167987 chr9 117788933 117788933 C T rs140573419 TNC Nonsynonymous SNV E2071K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 167988 chr9 38068330 38068330 T C rs147813967 SHB Nonsynonymous SNV K105E 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 25.4 167989 chr11 113561650 113561650 C A rs117055692 TMPRSS5 Nonsynonymous SNV A213S 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Likely benign 17.58 167990 chr9 3937028 3937028 G A rs140309338 GLIS3 Synonymous SNV T469T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 9.531 167991 chr9 429706 429706 G C DOCK8 Nonsynonymous SNV G1393A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 167992 chr9 434923 434923 T G DOCK8 Nonsynonymous SNV L1576R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 167993 chr11 113803103 113803103 C T rs770088313 HTR3B Nonsynonymous SNV A143V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 167994 chr19 35741375 35741375 C T rs61744843 LSR Synonymous SNV A137A 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 11.14 167995 chr1 1902129 1902129 G A rs200056196 CFAP74 Nonsynonymous SNV R339C 0.003 0 0 0 4 0 0 0 0 0 0 0 2.958 167996 chr10 64975079 64975079 C T rs201497554 JMJD1C Nonsynonymous SNV S101N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 25.9 167997 chr19 35941518 35941518 G A rs147802928 FFAR2 Nonsynonymous SNV R301H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 167998 chr1 2408977 2408977 C T rs965307577 PLCH2 Synonymous SNV P6P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.019 167999 chr19 36002380 36002380 - TG rs747005499 DMKN Frameshift insertion G284Afs*75 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 168000 chr19 36002381 36002381 - CACTGCTGCT rs776176602 DMKN Frameshift insertion G284Sfs*19 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 168001 chr19 36430426 36430426 C A rs140156601 LRFN3 Synonymous SNV R33R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 8.951 168002 chr10 18807333 18807333 G A rs138423466 CACNB2 Synonymous SNV L236L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 11.7 168003 chr10 71873976 71873976 G A rs140557384 AIFM2 Synonymous SNV F360F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.518 168004 chr9 129752258 129752258 A G RALGPS1 Synonymous SNV T101T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 168005 chr10 23728498 23728498 C T rs777457042 OTUD1 Nonsynonymous SNV P38S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.819 168006 chr2 237103632 237103632 G A rs751921471 ASB18 Synonymous SNV C428C 0 0 0 3 0 0 0.008 0 0 0 0 0 10.17 168007 chr10 73056469 73056469 - ATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC rs879908823 UNC5B Frameshift insertion T820Vfs*57 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 168008 chr10 75051686 75051686 T G rs199903879 CFAP70 Nonsynonymous SNV Q497H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25 168009 chr10 75526137 75526137 G A rs144210286 SEC24C Nonsynonymous SNV R546H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24 168010 chr10 74103143 74103143 A C DNAJB12 Synonymous SNV G146G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.04 168011 chr9 95776382 95776382 C T rs76013880 LOC101927954 0.009 0.01 0.003 1 11 4 0.003 1 0 0 0 0 11.21 168012 chr1 10364465 10364465 C T rs766794209 KIF1B Synonymous SNV N1074N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 168013 chr10 31137680 31137680 T C rs139186998 ZNF438 Nonsynonymous SNV T552A 0.003 0 0.017 0 4 0 0 5 0 0 1 0 10.35 168014 chr19 38708157 38708157 C G DPF1 Nonsynonymous SNV G251R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 168015 chr9 132687348 132687348 C A rs191141789 FNBP1 Nonsynonymous SNV R293L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 168016 chr1 11141232 11141232 A G rs146729002 EXOSC10 Synonymous SNV Y448Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.066 168017 chr1 11292543 11292543 T C MTOR Nonsynonymous SNV I822V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 168018 chr9 134340185 134340185 C T rs951001355 PRRC2B Synonymous SNV S480S 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 15.23 168019 chr9 134394834 134394834 C G rs150367385 POMT1 Nonsynonymous SNV S363R 0.009 0.01 0.01 4 10 4 0.01 3 0 0 0 0 Conflicting interpretations of pathogenicity 16.09 168020 chr2 242758214 242758214 G T rs778358150 NEU4 Nonsynonymous SNV G445V 0 0 0 2 0 0 0.005 0 0 0 0 0 1.42 168021 chrX 110987996 110987996 - CCACCT ALG13 P945_A946insPP 0.003 0.008 0 5 3 3 0.013 0 1 1 0 2 168022 chr11 124615441 124615441 C G NRGN Nonsynonymous SNV P20A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 168023 chr10 46998998 46998998 C T rs782574046 GPRIN2 Nonsynonymous SNV R40C 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 168024 chrX 117959929 117959929 G C rs140976011 ZCCHC12 Nonsynonymous SNV R241T 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 2.367 168025 chrX 118602725 118602725 C T rs756788147 SLC25A5-AS1 0 0.003 0 2 0 1 0.005 0 0 0 0 1 9.147 168026 chr3 4354711 4354711 T G SETMAR Nonsynonymous SNV Y96D 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 168027 chr11 125495756 125495756 G A CHEK1 Nonsynonymous SNV S34N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.245 168028 chr9 136596551 136596551 G A rs149810392 SARDH Nonsynonymous SNV T189I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.02 168029 chr19 41928988 41928988 A G rs61736656 BCKDHA Nonsynonymous SNV I361V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 168030 chr1 16778400 16778400 G C rs375823676 NECAP2 Nonsynonymous SNV S186T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 168031 chr9 139110959 139110959 A G rs10123062 QSOX2 Synonymous SNV D291D 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 0.204 168032 chr9 139257520 139257520 T C rs149083345 DNLZ Nonsynonymous SNV I97V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.3 168033 chr9 139273394 139273394 T G rs143530473 SNAPC4 Nonsynonymous SNV K962T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 168034 chr9 139413938 139413938 G A rs775275739 NOTCH1 Synonymous SNV D274D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.45 168035 chr9 139571553 139571553 T C AGPAT2 Nonsynonymous SNV I118V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.962 168036 chr1 19632551 19632551 C T rs375106886 AKR7A2 Synonymous SNV S258S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 168037 chrX 140993379 140993379 C G rs149647017 MAGEC1 Synonymous SNV S63S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.185 168038 chrX 140995290 140995290 G A rs149935889 MAGEC1 Synonymous SNV E700E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.235 168039 chr1 20209126 20209126 G T OTUD3 Synonymous SNV R40R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.71 168040 chr11 133801990 133801990 G A rs375960322 IGSF9B Synonymous SNV D362D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.941 168041 chr11 101375528 101375528 G A rs117273916 TRPC6 Nonsynonymous SNV R58W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 27.5 168042 chr9 139972651 139972651 C T rs940169331 UAP1L1 Nonsynonymous SNV R147W 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 28 168043 chr19 45284231 45284231 G C CBLC Synonymous SNV G141G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.358 168044 chr11 1857515 1857515 G A rs144635410 SYT8 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 168045 chr19 15752249 15752249 G A rs144671668 CYP4F3 Synonymous SNV S8S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.558 168046 chr3 38408300 38408300 G A rs200759971 XYLB Nonsynonymous SNV R33H 0 0 0 6 0 0 0.015 0 0 0 0 0 34 168047 chr9 18889728 18889728 G A rs376879784 ADAMTSL1 Nonsynonymous SNV R1542Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 168048 chr10 75549264 75549264 C T rs757300004 ZSWIM8 Synonymous SNV H199H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 168049 chr3 40529471 40529471 C T rs377079907 ZNF619 Synonymous SNV S446S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.29 168050 chr3 41504721 41504721 G A rs200243418 ULK4 Synonymous SNV L782L 0 0 0 7 0 0 0.018 0 0 0 0 0 11.4 168051 chr1 28476589 28476589 C T rs775001252 PTAFR Nonsynonymous SNV R315Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 168052 chr10 77159719 77159719 G A rs367783349 ZNF503 Synonymous SNV S243S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.79 168053 chr3 42632449 42632449 - ATCCAGCGGGTGAGC SS18L2 R23_L24insVSIQR 0 0 0 4 0 0 0.01 0 0 0 0 0 168054 chr11 103191758 103191758 G A rs201479015 DYNC2H1 Nonsynonymous SNV G3909D 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Uncertain significance 22.5 168055 chr1 32279845 32279845 G T rs199967531 SPOCD1 Nonsynonymous SNV L364M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 18.36 168056 chr19 17597584 17597584 C G rs772270748 SLC27A1 Nonsynonymous SNV P127R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.18 168057 chr11 109294770 109294770 C G C11orf87 Nonsynonymous SNV D137E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.7 168058 chr11 10673656 10673656 G A MRVI1 Synonymous SNV S38S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.04 168059 chr11 1075720 1075720 A G rs370233328 MUC2 Nonsynonymous SNV D49G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 168060 chr19 49838845 49838845 C T rs369641529 CD37 Synonymous SNV F16F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 168061 chrX 84561204 84561204 G T rs139385491 POF1B Nonsynonymous SNV Q434K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 7.871 168062 chr3 47537600 47537600 C T rs200718652 ELP6 Nonsynonymous SNV V254M 0 0 0.003 6 0 0 0.015 1 0 0 0 0 34 168063 chr19 18541663 18541663 G A rs192982931 SSBP4 Nonsynonymous SNV A98T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 168064 chr10 100022726 100022726 G A LOXL4 Synonymous SNV G17G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.893 168065 chr3 49151491 49151491 C T rs746365688 USP19 Synonymous SNV A697A 0 0 0 6 0 0 0.015 0 0 0 0 0 11.83 168066 chr1 40533358 40533358 G A rs34763876 CAP1 Synonymous SNV A259A 0.004 0 0 0 5 0 0 0 0 0 0 0 14.93 168067 chr11 35473456 35473456 G A rs368525253 PAMR1 Nonsynonymous SNV A284V 0.004 0 0 0 5 0 0 0 0 0 0 0 13.62 168068 chr19 19427323 19427323 G A rs149607008 SUGP1 Synonymous SNV L38L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.78 168069 chr11 118897797 118897797 T C rs782051786 SLC37A4 Nonsynonymous SNV K212E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.715 168070 chr1 43907023 43907023 G - SZT2 G2438Afs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 168071 chr11 44941388 44941388 C T rs369513260 TSPAN18 Synonymous SNV N151N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.6 168072 chr3 52546367 52546367 G A STAB1 Nonsynonymous SNV R965Q 0 0 0 6 0 0 0.015 0 0 0 0 0 8.592 168073 chr1 44604638 44604638 T G KLF18 Nonsynonymous SNV Q889P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.267 168074 chr1 45553584 45553584 T C rs192809758 ZSWIM5 Synonymous SNV L307L 0.003 0 0 0 4 0 0 0 0 0 0 0 2.658 168075 chr11 100998459 100998459 A G rs372127017 PGR Nonsynonymous SNV V448A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.312 168076 chr11 118985022 118985022 C T rs370206787 C2CD2L Nonsynonymous SNV S619L 0.003 0 0 0 3 0 0 0 0 0 0 0 27 168077 chr10 105820016 105820016 G A rs141844864 COL17A1 Synonymous SNV S334S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 8.39 168078 chr11 123597540 123597540 C A rs373154353 ZNF202 Nonsynonymous SNV G147V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.2 168079 chr9 97912307 97912307 T A rs1800365 FANCC Nonsynonymous SNV D195V 0.003 0.016 0.003 2 3 6 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 168080 chr19 34710712 34710712 C A LSM14A Nonsynonymous SNV P356T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.19 168081 chr10 112769065 112769065 G A SHOC2 Synonymous SNV R402R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.82 168082 chr11 123894626 123894626 G A rs762387121 OR10G9 Nonsynonymous SNV D303N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.26 168083 chrX 115951673 115951673 A G LOC100126447 0.003 0.008 0 0 4 3 0 0 1 1 0 0 5.35 168084 chr11 123810973 123810973 C T rs138187932 OR4D5 Nonsynonymous SNV S217L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 168085 chr1 55151961 55151961 G A rs201626732 MROH7 Nonsynonymous SNV V369I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.2 168086 chr10 12131248 12131248 C G DHTKD1 Nonsynonymous SNV C327W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 168087 chr19 54314291 54314291 C T rs751219722 NLRP12 Nonsynonymous SNV E208K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Uncertain significance 26.7 168088 chr10 123988979 123988979 C G rs755658202 TACC2 Nonsynonymous SNV P750R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.8 168089 chr3 108373008 108373008 A G rs200843035 DZIP3 Nonsynonymous SNV K684E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 168090 chr1 62916290 62916290 A G rs141001844 USP1 Nonsynonymous SNV I666V 0.01 0.01 0.003 2 12 4 0.005 1 0 0 0 0 0.017 168091 chr19 55670467 55670467 G A rs200673226 DNAAF3 Nonsynonymous SNV P597L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.162 168092 chr11 129062046 129062046 G A rs367680684 ARHGAP32 Synonymous SNV F16F 0.004 0 0 0 5 0 0 0 0 0 0 0 8.91 168093 chr10 129903514 129903514 A G rs200426884 MKI67 Nonsynonymous SNV L1837S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.04 168094 chr19 56172423 56172423 C G rs777458724 U2AF2 Synonymous SNV A118A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.83 168095 chr3 120371474 120371474 G T rs559502955 HGD Nonsynonymous SNV P103T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 168096 chr11 17035740 17035740 A G rs200126779 PLEKHA7 Nonsynonymous SNV L32P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 168097 chr10 134660483 134660483 C T rs147416274 CFAP46 Nonsynonymous SNV G2074S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 168098 chr11 117262984 117262984 C T rs377437628 CEP164 Nonsynonymous SNV R779W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 168099 chrX 54263417 54263417 T C WNK3 Nonsynonymous SNV I1481V 0.004 0.005 0 0 5 2 0 0 1 1 0 0 9.326 168100 chr11 118307414 118307416 GCG - rs781936420 KMT2A A67del 0.001 0 0 0 1 0 0 0 0 0 0 0 168101 chr11 18731966 18731966 G A rs372092174 IGSF22 Nonsynonymous SNV T870I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 168102 chrX 67937084 67937084 A G STARD8 Nonsynonymous SNV T30A 0.006 0.005 0 0 7 2 0 0 1 1 0 0 0.001 168103 chrX 69669229 69669229 C T rs144225009 DLG3 Synonymous SNV F143F 0.01 0.008 0 1 12 3 0.003 0 2 1 0 0 Conflicting interpretations of pathogenicity 8.474 168104 chr11 55111480 55111480 A C rs78322774 OR4A16 Nonsynonymous SNV L268F 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.002 168105 chr11 2005631 2005631 C A MRPL23-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.175 168106 chr11 12183737 12183737 C T rs138754325 MICAL2 Nonsynonymous SNV A12V 0.004 0 0 4 5 0 0.01 0 0 0 0 0 26.6 168107 chr10 25887375 25887375 G A rs180876652 GPR158 Synonymous SNV E940E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.12 168108 chr3 127337884 127337884 C T MCM2 Synonymous SNV A676A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.04 168109 chr10 101089933 101089933 C G rs1011253514 CNNM1 Synonymous SNV A263A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.02 168110 chr20 401565 401565 C G rs111283441 RBCK1 Nonsynonymous SNV D227E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 11.85 168111 chr19 45649306 45649306 C T rs551523117 PPP1R37 Synonymous SNV H664H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.07 168112 chr10 112647433 112647433 G A rs41292600 PDCD4 Nonsynonymous SNV R175K 0.006 0.005 0.007 3 7 2 0.008 2 0 0 0 0 10.86 168113 chr11 45249292 45249292 T C PRDM11 Nonsynonymous SNV M1039T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.67 168114 chr11 1272035 1272035 T A rs747792786 MUC5B Nonsynonymous SNV I4642N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.178 168115 chr11 4673933 4673933 - GA rs567104163 OR51E1 Frameshift insertion P61Sfs*99 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 168116 chr11 4674336 4674336 G A rs147018817 OR51E1 Nonsynonymous SNV D194N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 20.5 168117 chr11 46920492 46920492 G A rs144974139 LRP4 Synonymous SNV D213D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11 168118 chr3 142281428 142281428 T C rs34685245 ATR Synonymous SNV S272S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.819 168119 chr11 47315499 47315499 G A rs61755074 MADD Nonsynonymous SNV A1080T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 168120 chr11 47360123 47360123 T C MYBPC3 Synonymous SNV T752T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 1.318 168121 chr10 48388061 48388061 C T rs781918448 RBP3 Synonymous SNV T939T 0.004 0 0 0 5 0 0 0 0 0 0 0 4.551 168122 chr1 120529603 120529603 C T rs782452794 NOTCH2 Nonsynonymous SNV R285H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 168123 chr3 151012189 151012192 CTGT - rs752278985 GPR87 D281Gfs*3 0 0 0 3 0 0 0.008 0 0 0 0 0 168124 chr11 4824803 4824803 C T rs201085695 OR52R1 Nonsynonymous SNV D270N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.004 168125 chr10 50532876 50532876 A C rs1050853036 C10orf71 Synonymous SNV A762A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.408 168126 chr11 45944541 45944541 C A LARGE2 Synonymous SNV R36R 0.002 0 0 3 2 0 0.008 0 0 0 0 1 18.03 168127 chr11 4825385 4825385 G A rs201458859 OR52R1 Nonsynonymous SNV L76F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.5 168128 chr20 25457412 25457412 C A rs750781496 NINL Nonsynonymous SNV G839C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 168129 chr10 129910047 129910047 T C rs143087624 MKI67 Nonsynonymous SNV T348A 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 24.1 168130 chr10 1313185 1313185 C T rs144565549 ADARB2 Nonsynonymous SNV R386H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 168131 chr3 183756362 183756362 C T rs142947621 HTR3D Nonsynonymous SNV A187V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.933 168132 chr1 153909103 153909103 G A rs996014462 DENND4B Nonsynonymous SNV S796L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 168133 chr10 135012426 135012426 G A rs556208037 KNDC1 Nonsynonymous SNV G805E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.042 168134 chr10 135085088 135085088 C T rs36054052 ADAM8 Nonsynonymous SNV V371M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.5 168135 chr20 36845804 36845804 C G rs762032635 KIAA1755 Nonsynonymous SNV E569Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.699 168136 chr20 36867954 36867954 G A rs375716399 KIAA1755 Nonsynonymous SNV R575C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.32 168137 chr3 194118769 194118769 G A rs781760228 GP5 Synonymous SNV I81I 0 0 0 2 0 0 0.005 0 0 0 0 0 11.84 168138 chr11 4406857 4406857 A G rs112534094 TRIM21 Synonymous SNV S362S 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.002 168139 chr11 61309969 61309969 G A rs762726486 SYT7 Nonsynonymous SNV R73C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.68 168140 chr11 62289261 62289261 C A rs142718314 AHNAK Nonsynonymous SNV V4210L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 168141 chr11 48327889 48327889 G A rs777702413 OR4S1 Nonsynonymous SNV G39R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 168142 chr11 63420035 63420035 G A rs34261014 ATL3 Synonymous SNV L122L 0.003 0 0 5 3 0 0.013 0 0 0 0 0 Benign 12.93 168143 chr11 63531526 63531526 C T rs560809792 C11orf95 Synonymous SNV E523E 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 13.81 168144 chr10 4872888 4872888 G A rs111857204 AKR1E2 Nonsynonymous SNV E21K 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 12.95 168145 chr20 61162219 61162219 C T rs370228698 MIR1-1HG Nonsynonymous SNV P11L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 168146 chr11 64521086 64521086 T C rs912122302 PYGM Synonymous SNV A348A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.409 168147 chr10 60549127 60549127 A C rs147466451 BICC1 Nonsynonymous SNV N236H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 168148 chr20 62200717 62200717 A G rs747422323 HELZ2 Nonsynonymous SNV M291T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.465 168149 chr19 57795996 57795996 C G rs144613019 ZNF460 Synonymous SNV A36A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.02 168150 chr11 499052 499052 C T RNH1 Nonsynonymous SNV G193S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 168151 chr19 58049856 58049856 A G rs201194569 ZNF549 Nonsynonymous SNV H482R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 168152 chr11 58385161 58385161 A C rs113654844 ZFP91 Synonymous SNV S564S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.044 168153 chr21 18970965 18970965 C T rs768494268 BTG3 Synonymous SNV S163S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 168154 chr11 66133434 66133434 T C rs776639735 SLC29A2 Nonsynonymous SNV T300A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.845 168155 chr19 58967655 58967655 G T rs140928628 ZNF324B Synonymous SNV T448T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.889 168156 chr11 60183120 60183120 G C rs893915141 MS4A14 Nonsynonymous SNV E210Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 168157 chr11 111749708 111749708 T C rs368645940 FDXACB1 Nonsynonymous SNV N50S 0.001 0 0 0 1 0 0 0 0 0 0 0 22 168158 chr11 111753146 111753146 G A rs781894900 C11orf1 Nonsynonymous SNV A34T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 168159 chr11 111904160 111904160 C T rs34680691 DLAT Synonymous SNV T138T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.95 168160 chr11 687918 687918 G A rs757878924 DEAF1 Synonymous SNV L219L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.51 168161 chr21 34922927 34922927 G A rs763404313 SON Nonsynonymous SNV E464K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 168162 chr11 113258722 113258722 C A rs554233180 ANKK1 Nonsynonymous SNV A39E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 168163 chr11 69514034 69514034 T C rs779279247 FGF19 Nonsynonymous SNV K216R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.52 168164 chr21 35890398 35890398 G A rs544305073 RCAN1 Nonsynonymous SNV P167L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 168165 chr11 61643641 61643641 C T rs202232198 FADS3 Nonsynonymous SNV E368K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 168166 chr4 42065008 42065008 G T SLC30A9 Nonsynonymous SNV G301V 0 0 0 2 0 0 0.005 0 0 0 0 0 31 168167 chr11 71202944 71202944 G A rs201006776 NADSYN1 Nonsynonymous SNV D587N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 168168 chr11 71712629 71712629 C T rs753301202 IL18BP Stop gain Q180X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.789 168169 chr11 117054496 117054496 G A rs149441737 SIDT2 Nonsynonymous SNV R235H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 32 168170 chr11 72945485 72945485 C T rs199793856 P2RY2 Nonsynonymous SNV A94V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 168171 chr11 117308660 117308660 C T DSCAML1 Synonymous SNV V1461V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 168172 chr11 62298864 62298864 G C rs762257004 AHNAK Nonsynonymous SNV P1009A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.2 168173 chr11 62362737 62362737 C T rs765854693 MTA2 Synonymous SNV E321E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.92 168174 chr11 119549304 119549304 G A NECTIN1 Nonsynonymous SNV S84F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 168175 chr11 75442204 75442204 C T rs150080381 MOGAT2 Nonsynonymous SNV T293M 0.002 0 0 0 2 0 0 0 0 0 0 0 18.57 168176 chr21 44838421 44838421 C T rs769962713 SIK1, SIK1B Nonsynonymous SNV C488Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.3 168177 chr11 63581188 63581188 C G SPINDOC Synonymous SNV L10L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.39 168178 chr21 45389040 45389040 C T rs75532875 AGPAT3 Synonymous SNV P130P 0.005 0.003 0.007 3 6 1 0.008 2 0 0 0 0 15.84 168179 chr1 212276226 212276226 T C DTL Nonsynonymous SNV F442L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 168180 chr11 7689788 7689788 A T rs762966544 CYB5R2 Nonsynonymous SNV N131K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.011 168181 chr11 1008064 1008064 G A AP2A2 Synonymous SNV Q784Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.499 168182 chr21 46906833 46906833 C T rs199823547 COL18A1 Nonsynonymous SNV A767V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 17.62 168183 chr20 18296325 18296325 G A rs551431631 ZNF133 Nonsynonymous SNV R258Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 168184 chr21 46951478 46951486 CAGCTCCCG - SLC19A1 R216_L218del 0.002 0 0 0 2 0 0 0 0 0 0 0 168185 chr11 57466458 57466458 G A rs1002203232 ZDHHC5 Nonsynonymous SNV R517H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.12 168186 chr20 18549927 18549927 G A SMIM26 Nonsynonymous SNV E56K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.142 168187 chr4 81207815 81207815 C T rs137903755 FGF5 Nonsynonymous SNV R123C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 168188 chr1 225152180 225152180 G A rs750506412 DNAH14 0.004 0.018 0 3 5 7 0.008 0 0 0 0 0 24.9 168189 chr11 124509684 124509684 T C rs749579541 SIAE Nonsynonymous SNV Y349C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.7 168190 chr11 58170397 58170397 A G rs767059741 OR5B3 Synonymous SNV F162F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.006 168191 chr11 12495302 12495302 G T PARVA Synonymous SNV L49L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.689 168192 chr4 87683979 87683979 A T rs563602318 PTPN13 Nonsynonymous SNV H1027L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 168193 chr11 66240755 66240755 A G rs758916445 PELI3 Nonsynonymous SNV D60G 0.003 0 0 0 3 0 0 0 0 0 0 0 28.6 168194 chr20 25197316 25197316 G A rs778193404 ENTPD6 Nonsynonymous SNV G30S 0.002 0 0 0 2 0 0 0 0 0 0 0 32 168195 chr11 66638865 66638865 G A rs773730765 PC Synonymous SNV V136V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.27 168196 chr11 1258361 1258361 C T rs768809541 MUC5B Synonymous SNV L1088L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.708 168197 chr11 126135214 126135214 G A rs367950847 SRPRA Synonymous SNV V392V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.59 168198 chr11 99827693 99827693 A T rs780533843 CNTN5 Nonsynonymous SNV N203Y 0.003 0 0 0 4 0 0 0 0 0 0 0 24 168199 chr11 66589156 66589156 T C rs950647692 C11orf80 Nonsynonymous SNV V295A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.094 168200 chr12 100042192 100042192 C G rs147841911 FAM71C Synonymous SNV L80L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.001 168201 chr11 67397290 67397290 C T rs148457808 NUDT8 Synonymous SNV S31S 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 21.3 168202 chr4 110638838 110638838 C T PLA2G12A Nonsynonymous SNV C106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 32 168203 chr11 103114467 103114467 G C rs200326353 DYNC2H1 Nonsynonymous SNV E3289Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 168204 chr4 119653905 119653905 G C SEC24D Nonsynonymous SNV P888A 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 168205 chr12 10658691 10658691 G A rs768418187 EIF2S3B Nonsynonymous SNV V64I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.61 168206 chr4 121732549 121732549 T C rs190061397 PRDM5 Synonymous SNV A276A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.56 168207 chr11 63536014 63536014 G T C11orf95 Synonymous SNV G27G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.22 168208 chr11 77413223 77413223 T C rs78433827 RSF1 Nonsynonymous SNV I351V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 168209 chr11 76507412 76507412 G A rs112413166 TSKU Nonsynonymous SNV R251H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 7.885 168210 chr11 115080312 115080314 TGG - rs747352768 CADM1 T353del 0.002 0 0 0 2 0 0 0 0 0 0 0 168211 chr4 155176790 155176790 G A rs200803727 DCHS2 Synonymous SNV N2274N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 4.61 168212 chr4 155191162 155191162 G A rs146032523 DCHS2 Nonsynonymous SNV T2156I 0.003 0.005 0.003 6 4 2 0.015 1 0 0 0 0 23 168213 chr11 65346856 65346856 C T rs185071236 EHBP1L1 Synonymous SNV T69T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 168214 chr11 82443797 82443797 G A rs770825449 FAM181B Synonymous SNV S325S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 168215 chr11 119228529 119228529 C T rs61753081 USP2 Nonsynonymous SNV R237Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 168216 chr2 10074012 10074012 C A rs111442552 TAF1B Nonsynonymous SNV L301I 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 7.814 168217 chr11 65733373 65733373 C T rs746052994 SART1 Nonsynonymous SNV R252W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 168218 chr20 60912751 60912751 C T rs757840397 LAMA5 Nonsynonymous SNV A687T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.173 168219 chr11 66113528 66113528 G C B4GAT1 Nonsynonymous SNV R414G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 168220 chr4 170359272 170359272 G C rs543224510 NEK1 Nonsynonymous SNV S812C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 23.6 168221 chr12 122248192 122248192 G A rs758331807 SETD1B Synonymous SNV K447K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.032 168222 chr12 101736832 101736832 C T rs767168547 UTP20 Synonymous SNV Y1470Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.127 168223 chr11 9200555 9200555 G A rs139731384 DENND5A Synonymous SNV L483L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.26 168224 chr11 67400475 67400475 A T rs201886785 TBX10 Nonsynonymous SNV S217T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.591 168225 chr12 122734535 122734535 T C rs568695865 VPS33A Nonsynonymous SNV I209V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.871 168226 chr12 124111644 124111644 C T rs148714712 EIF2B1 Synonymous SNV A143A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 168227 chr11 46811706 46811706 C A rs775244202 CKAP5 Nonsynonymous SNV V599F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.4 168228 chr2 24516579 24516579 G A rs61754186 ITSN2 Synonymous SNV N567N 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 10.19 168229 chr11 124621363 124621363 A T rs144606320 VSIG2 Nonsynonymous SNV W59R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.7 168230 chr11 47354760 47354760 G T rs200372325 MYBPC3 Synonymous SNV A1105A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.322 168231 chr20 62493029 62493029 A G rs577963504 ABHD16B Nonsynonymous SNV S46G 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 0.005 168232 chr12 130839517 130839517 G A rs138419869 PIWIL1 Nonsynonymous SNV R419H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 21.2 168233 chr2 27601383 27601383 C T ZNF513 Synonymous SNV R188R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 168234 chr11 48238498 48238498 C T rs770844194 OR4B1 Nonsynonymous SNV T46M 0.002 0 0 0 2 0 0 0 0 0 0 0 9.868 168235 chr2 28117529 28117529 A C rs200906690 BABAM2 Synonymous SNV R36R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.3 168236 chr12 110206731 110206731 G T rs776600173 FAM222A Nonsynonymous SNV V333L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.833 168237 chr5 205595 205595 G A rs375957087 CCDC127 Synonymous SNV A200A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.388 168238 chr5 484771 484771 C T rs140474355 SLC9A3 Nonsynonymous SNV V266M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 168239 chr11 72289342 72289342 C A PDE2A Synonymous SNV R843R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 168240 chr5 1325874 1325874 C T rs150678949 CLPTM1L Nonsynonymous SNV E380K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 2.127 168241 chr12 109702166 109702166 G A rs149917930 ACACB Nonsynonymous SNV R2306Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 29.2 168242 chr5 13919314 13919314 G A rs201706790 DNAH5 Nonsynonymous SNV L316F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 168243 chr12 21459876 21459876 T A rs11568567 SLCO1A2 Nonsynonymous SNV N128Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 23.1 168244 chr12 113357338 113357339 TG - rs769646411 OAS1 L362Rfs*66 0.002 0 0 0 2 0 0 0 0 0 0 0 168245 chr12 2702390 2702392 GAG - rs575583988 CACNA1C E850del 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 168246 chrX 14748376 14748376 G A rs140244800 GLRA2 Synonymous SNV G376G 0.002 0 0 0 2 0 0 0 1 0 0 0 1.332 168247 chr12 29617548 29617548 G C OVCH1 Nonsynonymous SNV P708A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.005 168248 chr2 48873821 48873821 T G GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV D172E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.168 168249 chr5 37187928 37187928 A G rs145520487 CPLANE1 Synonymous SNV L1276L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.832 168250 chr11 19197436 19197436 G T rs776891887 ZDHHC13 Nonsynonymous SNV V470L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 168251 chr12 33003847 33003847 C T rs192041220 PKP2 Nonsynonymous SNV V411I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.99 168252 chr2 55871823 55871823 T G rs750772664 PNPT1 Nonsynonymous SNV K619Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.95 168253 chr21 45826633 45826633 C T rs769039238 TRPM2 Nonsynonymous SNV P983S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 168254 chr21 45859017 45859017 C T rs144331323 TRPM2 Nonsynonymous SNV P93L 0.003 0.008 0.017 1 3 3 0.003 5 0 0 0 0 Likely benign 3.508 168255 chr11 92534968 92534968 G A rs370539148 FAT3 Nonsynonymous SNV R2930Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 168256 chr11 92914906 92914906 T C SLC36A4 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 11.1 168257 chr12 122990108 122990108 A C RSRC2 Nonsynonymous SNV F424C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 168258 chr12 122990109 122990109 A C RSRC2 Nonsynonymous SNV F424V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 168259 chr21 46932180 46932180 G A rs761670508 COL18A1 Synonymous SNV T1473T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.721 168260 chr11 2930469 2930469 T G rs779619751 SLC22A18 Nonsynonymous SNV F181V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.55 168261 chr12 1005439 1005439 C T WNK1 Nonsynonymous SNV T1681I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.733 168262 chr12 49427522 49427522 G A rs201283589 KMT2D Nonsynonymous SNV R3656C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 168263 chr5 71756355 71756355 G A rs35721849 ZNF366 Synonymous SNV H323H 0.009 0.013 0.003 5 11 5 0.013 1 0 0 0 0 0.631 168264 chr5 71757248 71757248 G A rs73104492 ZNF366 Nonsynonymous SNV P26S 0.009 0.01 0.003 5 11 4 0.013 1 0 0 0 0 4.951 168265 chr2 85604554 85604554 C T rs750932243 ELMOD3 Nonsynonymous SNV P232L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 168266 chr12 15654581 15654581 T C rs200031739 PTPRO Nonsynonymous SNV V230A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.22 168267 chr12 13716365 13716365 T A rs78765966 GRIN2B Synonymous SNV P1269P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 0.004 168268 chr12 109016871 109016871 G A rs139716647 SELPLG Nonsynonymous SNV L421F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 168269 chr12 109639462 109639462 G A rs147358100 ACACB Nonsynonymous SNV V957M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 168270 chr12 16510615 16510615 G A rs141777199 MGST1 Nonsynonymous SNV R68K 0.003 0 0 0 3 0 0 0 0 0 0 0 10.51 168271 chr12 18443864 18443864 G A rs373737858 PIK3C2G Synonymous SNV P279P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.24 168272 chrX 153218026 153218026 C T rs368086196 HCFC1 Synonymous SNV T1627T 0.011 0.016 0 5 13 6 0.013 0 4 2 0 2 Likely benign 6.034 168273 chrX 153220466 153220466 G A HCFC1 Synonymous SNV G1128G 0.011 0.016 0 5 13 6 0.013 0 4 2 0 2 2.119 168274 chr11 56467996 56467996 A C OR9G1, OR9G9 Nonsynonymous SNV I45L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.27 168275 chr2 108998284 108998284 G A rs199882807 SULT1C4 Nonsynonymous SNV R79Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 168276 chr2 110107274 110107274 A G SH3RF3 Nonsynonymous SNV M788V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.854 168277 chr12 442691 442691 T G KDM5A Nonsynonymous SNV I539L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 168278 chr12 113754402 113754402 C A rs375836359 SLC8B1 Nonsynonymous SNV A252S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 16.14 168279 chr12 54350180 54350180 G A rs144078525 HOXC12 Nonsynonymous SNV A227T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 32 168280 chr11 57244139 57244139 C T RTN4RL2 Nonsynonymous SNV P340S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 168281 chr12 56495339 56495339 C A rs55699040 ERBB3 Nonsynonymous SNV L1177I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.38 168282 chr12 49434980 49434980 C T rs202085637 KMT2D Synonymous SNV T2191T 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.897 168283 chr11 58190311 58190311 G A OR5B2 Synonymous SNV L142L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.58 168284 chr2 135893190 135893190 T C rs767393355 RAB3GAP1 Synonymous SNV S537S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.641 168285 chr11 59562918 59562918 C T rs370426130 STX3 Nonsynonymous SNV T250M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 168286 chr12 57618875 57618875 C T NXPH4 Nonsynonymous SNV T91I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.2 168287 chr12 57910274 57910274 G A rs373439522 MARS1 Synonymous SNV A871A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 14.11 168288 chr12 124103995 124103995 C A rs143479625 DDX55 Nonsynonymous SNV S450R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.66 168289 chr5 118513826 118513826 A G rs565374554 DMXL1 Nonsynonymous SNV N2341S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.14 168290 chr12 124383312 124383312 C T rs200729045 DNAH10 Synonymous SNV S3079S 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 Benign 10.42 168291 chr10 123353270 123353270 G A rs773358865 FGFR2 Nonsynonymous SNV A21V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 168292 chr2 170417270 170417270 T C rs150947065 FASTKD1 Nonsynonymous SNV I177V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.679 168293 chr10 131565115 131565115 G A rs2308318 MGMT Nonsynonymous SNV G160R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 27.2 168294 chr5 139781684 139781684 G A rs750180420 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV V44V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.31 168295 chr5 139928568 139928568 C T ANKHD1-EIF4EBP3, EIF4EBP3 Nonsynonymous SNV L61F 0.009 0.008 0.003 3 10 3 0.008 1 0 0 0 0 34 168296 chr12 75884261 75884261 T C GLIPR1 Nonsynonymous SNV S166P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.453 168297 chr12 56078986 56078986 C T ITGA7 Synonymous SNV Q642Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.21 168298 chr12 1940404 1940404 G A rs928447688 LRTM2 Nonsynonymous SNV R124H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 168299 chr5 140256150 140256150 G C rs371696514 PCDHA12 Nonsynonymous SNV V365L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 168300 chr5 140501851 140501851 C G rs782431482 PCDHB4 Nonsynonymous SNV R91G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 168301 chr5 140907186 140907186 A C rs143763573 DIAPH1 Nonsynonymous SNV F1067C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 26 168302 chr5 141019174 141019174 G C rs150312997 RELL2 Nonsynonymous SNV S154T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.716 168303 chr11 64955904 64955904 G A rs575591830 CAPN1 Nonsynonymous SNV V317M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.6 168304 chr5 141033727 141033727 G T rs61736215 ARAP3 Synonymous SNV P1475P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.666 168305 chr11 65375116 65375116 T C rs968973687 MAP3K11 Nonsynonymous SNV E414G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26 168306 chr12 95927325 95927325 C T rs34987131 USP44 Synonymous SNV T236T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 4.106 168307 chr12 32906989 32906989 G A rs145906298 YARS2 Synonymous SNV T270T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.87 168308 chr12 58121509 58121509 G T rs139025929 AGAP2 Synonymous SNV R582R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 168309 chr11 66332376 66332376 G A rs751789480 CTSF Synonymous SNV L383L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.8 168310 chr12 41374803 41374803 C T rs757379406 CNTN1 Nonsynonymous SNV P622S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 168311 chr11 5729445 5729445 G A TRIM22 Synonymous SNV K268K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.5 168312 chr13 103396967 103396967 G T rs976238852 CCDC168 Nonsynonymous SNV P2027H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.059 168313 chr12 70280615 70280615 G A rs889993028 MYRFL Nonsynonymous SNV R191H 0.002 0 0 8 2 0 0.021 0 0 0 0 0 14.83 168314 chr12 7047105 7047105 G C ATN1 Nonsynonymous SNV D798H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.5 168315 chr13 103419737 103419737 A G TEX30 Synonymous SNV I89I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.578 168316 chr12 4708199 4708199 A G rs3741927 DYRK4 Nonsynonymous SNV N189S 0.011 0.003 0 2 13 1 0.005 0 0 0 0 0 25.2 168317 chr13 103701773 103701773 G A rs72547505 SLC10A2 Nonsynonymous SNV T262M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 28.6 168318 chr12 7069593 7069593 G A rs373263834 PTPN6 Synonymous SNV S556S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.23 168319 chr12 80704428 80704428 C T OTOGL Nonsynonymous SNV A1115V 0.007 0.005 0 1 8 2 0.003 0 0 0 0 0 22.9 168320 chr12 49494970 49494970 G A rs375651055 LMBR1L Nonsynonymous SNV P235L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 168321 chr12 89885821 89885821 T C rs571118434 POC1B Nonsynonymous SNV Q73R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23.6 168322 chr11 73744486 73744486 T C rs975967216 C2CD3 Nonsynonymous SNV N2240S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.78 168323 chr5 172096853 172096853 C T rs959395719 NEURL1B Nonsynonymous SNV P33S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.02 168324 chr10 4872952 4872952 A G rs199737864 AKR1E2 Nonsynonymous SNV N42S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 168325 chr12 9020857 9020857 C A rs768728955 A2ML1 Nonsynonymous SNV T831K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.178 168326 chr5 176314614 176314614 G T HK3 Synonymous SNV R480R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 1.842 168327 chr10 50901917 50901917 C A rs145689841 C10orf53 Stop gain C65X 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 36 168328 chr10 50966447 50966447 C T rs145621276 OGDHL Synonymous SNV Q64Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.63 168329 chr11 78614351 78614351 C G rs377037323 TENM4 Nonsynonymous SNV E237D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.893 168330 chr5 179731799 179731799 G A rs780150267 GFPT2 Synonymous SNV N605N 0 0 0 2 0 0 0.005 0 0 0 0 0 7.662 168331 chr13 103387446 103387446 A T CCDC168 Nonsynonymous SNV L5201M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.265 168332 chr12 54110127 54110127 C G rs140181365 CALCOCO1 Nonsynonymous SNV E308Q 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 9.771 168333 chr11 6432563 6432563 T C APBB1 Synonymous SNV S5S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.264 168334 chr13 111164327 111164327 C T rs200681591 COL4A2 Nonsynonymous SNV P1643L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 168335 chrX 135430659 135430659 G A rs149903703 ADGRG4 Synonymous SNV R1598R 0.003 0 0 0 3 0 0 0 1 0 0 0 0.377 168336 chr12 56075539 56075539 A G rs748491087 METTL7B Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 168337 chr13 111329389 111329389 C T rs140056876 CARS2 Synonymous SNV E239E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.9 168338 chr12 56487657 56487657 G C rs55880327 ERBB3 Synonymous SNV V530V 0.005 0 0.01 0 6 0 0 3 0 0 0 0 Benign/Likely benign 8.985 168339 chr12 56526069 56526069 G T ESYT1 Nonsynonymous SNV V313L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 168340 chr13 103701678 103701678 T C rs201039481 SLC10A2 Nonsynonymous SNV S294G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.77 168341 chr13 73317711 73317711 A G rs189819729 BORA Nonsynonymous SNV K91R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.43 168342 chr6 11005776 11005776 C T rs559223553 ELOVL2 Synonymous SNV G28G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.61 168343 chr6 11105511 11105511 C T rs139935118 ERVFRD-1 Synonymous SNV T11T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.07 168344 chr12 57317738 57317738 C T rs199883998 SDR9C7 Nonsynonymous SNV R274H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 168345 chr6 11190671 11190671 C T rs373808837 NEDD9 Synonymous SNV P328P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.028 168346 chr12 10104054 10104054 C T rs945944799 CLEC12A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.341 168347 chr13 112722929 112722929 G A SOX1 Synonymous SNV K319K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.81 168348 chr6 16327900 16327900 - TGCTGCTGATGCTGA ATXN1 Q213_Q214insHQHQQ 0 0 0 2 0 0 0.005 0 0 0 0 0 168349 chr6 17626281 17626281 T C rs150601952 NUP153 Nonsynonymous SNV N1178S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 168350 chr13 115052043 115052043 G A rs141041584 UPF3A Synonymous SNV K157K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.819 168351 chr12 10365776 10365776 G A rs150469527 GABARAPL1 Synonymous SNV K16K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.86 168352 chr13 25262562 25262562 G A ATP12A Nonsynonymous SNV V112M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.6 168353 chr12 65225988 65225988 C T rs181148724 TBC1D30 Synonymous SNV A166A 0.003 0.005 0.007 2 4 2 0.005 2 0 0 0 0 16.85 168354 chr13 21549202 21549202 A G rs56116059 LATS2 Nonsynonymous SNV L1025P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.4 168355 chr13 25428230 25428230 A G rs141096895 RNF17 Synonymous SNV T1182T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.201 168356 chr10 100189554 100189554 T A rs764518529 HPS1 Nonsynonymous SNV Q248L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.171 168357 chr14 100795285 100795285 G T SLC25A47 Nonsynonymous SNV A38S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.9 168358 chr10 84745336 84745337 AA - rs754054528 NRG3 D691Lfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 168359 chr12 10862617 10862617 G A rs139977998 YBX3 Nonsynonymous SNV R224C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 32 168360 chr11 686935 686935 T C rs71469813 DEAF1 Star tloss M1? 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 22.8 168361 chr13 36757313 36757313 G C SOHLH2 Nonsynonymous SNV S221R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.422 168362 chr14 104169630 104169630 C T rs138987760 XRCC3 Synonymous SNV P147P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.12 168363 chr11 70034065 70034065 C T rs61731870 ANO1 Synonymous SNV L972L 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 Benign 12.4 168364 chr11 7022463 7022463 C T rs150800974 ZNF214 Nonsynonymous SNV G151S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.772 168365 chr14 105055119 105055136 GACGGGCAGGACGGGCAG - rs763414265 C14orf180 *161* 0.004 0 0 3 5 0 0.008 0 0 0 0 0 168366 chr14 105055128 105055136 GACGGGCAG - C14orf180 T153_R155del 0.004 0 0 3 5 0 0.008 0 0 0 0 0 168367 chr14 105174329 105174329 C T rs368235032 INF2 Synonymous SNV N575N 0.004 0 0 2 5 0 0.005 0 0 0 0 0 9.549 168368 chr11 70253419 70253419 G A CTTN Nonsynonymous SNV A6T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 168369 chr12 8074227 8074227 G A rs770553171 SLC2A3 Nonsynonymous SNV H425Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 168370 chr6 36936699 36936699 A G rs763576695 MTCH1 Nonsynonymous SNV S384P 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 168371 chr6 38775419 38775419 C T DNAH8 Stop gain Q845X 0 0 0 3 0 0 0.008 0 0 0 0 0 40 168372 chr14 105834868 105834868 A G rs782768000 PACS2 Nonsynonymous SNV M245V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 168373 chr2 242011042 242011042 G A rs182099291 SNED1 Nonsynonymous SNV R1214Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 168374 chr13 46039290 46039290 C G rs141222488 COG3 Nonsynonymous SNV T40R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 17.56 168375 chr12 113822030 113822030 G A rs111420851 PLBD2 Nonsynonymous SNV A360T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.84 168376 chr10 12209785 12209785 T A rs183326588 NUDT5 Synonymous SNV T189T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.4 168377 chr13 77531252 77531252 C T ACOD1 Nonsynonymous SNV S193F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.5 168378 chr14 21555481 21555481 G A rs55901089 ARHGEF40 Nonsynonymous SNV A702T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 29.7 168379 chr14 21623992 21623992 G A OR5AU1 Nonsynonymous SNV L14F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 168380 chr14 103395162 103395162 G A rs141455061 AMN Synonymous SNV G121G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 9.689 168381 chr6 49976883 49976883 A G rs200540348 DEFB110 Nonsynonymous SNV C53R 0.003 0 0 4 3 0 0.01 0 0 0 0 0 26.5 168382 chr14 23744825 23744829 CTTCC - rs745787648 HOMEZ Stop gain E537* 0.003 0 0 1 3 0 0.003 0 0 0 0 0 168383 chr14 104206356 104206356 G A rs376403203 PPP1R13B Synonymous SNV P799P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.47 168384 chr11 102076818 102076818 - CAATGCGGAATATCAATCCCAGCACAGCAAATTCTCCAAAATGTCAGGAGTTAGCCCTGCGTAGCCAGTTACCAACACTGGAGCAGGA YAP1 0 0.003 0 0 0 1 0 0 0 0 0 0 168385 chr11 102094483 102094483 - TGGCACCTATCACTCTCGAGATGA YAP1 D345_E346insDGTYHSRD 0 0.003 0 0 0 1 0 0 0 0 0 0 168386 chr14 23868160 23868160 G C MYH6 Nonsynonymous SNV N556K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 168387 chr11 92600328 92600328 G A rs763662633 FAT3 Nonsynonymous SNV R4027H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 13.43 168388 chr6 56462574 56462574 A C rs369432519 DST Synonymous SNV T1430T 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.003 168389 chr11 99690376 99690376 C G CNTN5 Nonsynonymous SNV R53G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 168390 chr12 100928801 100928801 G A NR1H4 Synonymous SNV R250R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.63 168391 chr14 38276591 38276591 A G rs200402240 TTC6 Nonsynonymous SNV N1477D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 168392 chr10 17156043 17156043 C G CUBN Nonsynonymous SNV C289S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.6 168393 chr14 47343352 47343352 T C MDGA2 Nonsynonymous SNV D761G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 168394 chr13 43500565 43500565 G C rs115506182 EPSTI1 Stop gain Y61X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 168395 chr11 119548402 119548402 C T rs78809001 NECTIN1 Nonsynonymous SNV R199Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 168396 chr14 64628873 64628873 C T rs147173048 SYNE2 Nonsynonymous SNV A5393V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 15.66 168397 chr6 112015629 112015629 C G FYN Nonsynonymous SNV D353H 0 0 0 1 0 0 0.003 0 0 0 0 0 29 168398 chr13 53418763 53418763 C T rs199716914 PCDH8 Nonsynonymous SNV V1049I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.81 168399 chr14 39619582 39619582 T C rs1013711875 TRAPPC6B Nonsynonymous SNV K122R 0.01 0.003 0 1 12 1 0.003 0 0 0 0 0 21 168400 chr14 71199366 71199366 G A rs200777804 MAP3K9 Nonsynonymous SNV S640L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 168401 chr3 49738937 49738937 C T rs752231755 RNF123 Nonsynonymous SNV R431C 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 25.9 168402 chr6 127469847 127469847 A C rs983581336 RSPO3 Nonsynonymous SNV Y51S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 168403 chr3 51669661 51669661 G A rs776152286 RAD54L2 Nonsynonymous SNV V399M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 31 168404 chr6 127775046 127775046 A G rs147658633 KIAA0408 Synonymous SNV N27N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.169 168405 chr10 5416015 5416015 C T rs200238807 UCN3 Nonsynonymous SNV T111M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.62 168406 chr12 49498532 49498532 G A LMBR1L Nonsynonymous SNV H110Y 0.003 0 0 0 3 0 0 0 0 0 0 0 25 168407 chr12 49723721 49723721 C T rs186005662 TROAP Nonsynonymous SNV P416S 0.003 0 0 0 4 0 0 0 0 0 0 0 7.034 168408 chr12 50035768 50035768 C T rs368968591 PRPF40B Synonymous SNV A593A 0.003 0 0 0 4 0 0 0 0 0 0 0 17.9 168409 chr12 50189799 50189799 T C rs755940565 NCKAP5L Nonsynonymous SNV Y615C 0.003 0 0 0 4 0 0 0 0 0 0 0 20.3 168410 chr3 58139150 58139150 G A rs578244438 FLNB Nonsynonymous SNV R2115H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 22.3 168411 chr14 61115425 61115425 G A rs758128766 SIX1 Synonymous SNV T161T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 13.19 168412 chr10 73047501 73047501 G A rs368023656 UNC5B Nonsynonymous SNV A294T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.51 168413 chr10 73560412 73560412 C T rs373823262 CDH23 Nonsynonymous SNV S221F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 31 168414 chr10 75526116 75526116 G A rs751899302 SEC24C Nonsynonymous SNV G539E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.06 168415 chr14 96730969 96730969 G A rs8004609 BDKRB1 Nonsynonymous SNV R317Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.661 168416 chr12 18435219 18435219 A - rs1032324838 PIK3C2G P69Qfs*10 0.002 0.003 0 0 2 1 0 0 0 0 0 0 168417 chr14 77844992 77844992 A - SAMD15 K411Nfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 168418 chr10 90966785 90966785 C T rs151117983 CH25H Nonsynonymous SNV G89R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.17 168419 chr10 95134540 95134540 A G MYOF Synonymous SNV L748L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.93 168420 chr15 33359846 33359846 T A rs768740501 FMN1 Synonymous SNV P80P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 168421 chr14 23844853 23844853 C T rs145160878 IL25 Nonsynonymous SNV R100W 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 35 168422 chr6 168227884 168227884 G A AFDN Synonymous SNV R24R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.017 168423 chr12 29667472 29667472 A C TMTC1 Synonymous SNV L791L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.089 168424 chr12 32447064 32447064 C T rs199528142 BICD1 Nonsynonymous SNV T188M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 168425 chr3 123367884 123367884 C T rs41366751 MYLK Nonsynonymous SNV R1274Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 34 168426 chr3 124413219 124413219 C T rs333282 KALRN Synonymous SNV C784C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.25 168427 chr14 45654569 45654569 T C rs756588543 FANCM Synonymous SNV A1529A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.217 168428 chr3 126180673 126180673 C G rs760794789 ZXDC Nonsynonymous SNV C611S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.04 168429 chr12 50480041 50480041 C T SMARCD1 Nonsynonymous SNV A92V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21.7 168430 chr15 31198050 31198050 T C rs201153099 FAN1 Nonsynonymous SNV L395P 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 29.2 168431 chr15 48056217 48056217 C T rs370273691 SEMA6D Synonymous SNV I306I 0.006 0 0 0 7 0 0 0 0 0 0 0 13.25 168432 chr7 23339215 23339215 T C rs781500080 MALSU1 Nonsynonymous SNV S82P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.955 168433 chr15 51350237 51350237 G A rs138297422 TNFAIP8L3 Synonymous SNV H152H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.458 168434 chr15 51975586 51975586 G A rs775852158 SCG3 Nonsynonymous SNV D118N 0.004 0 0 0 5 0 0 0 0 0 0 0 28.6 168435 chr15 55912391 55912391 G A rs79244725 PRTG Nonsynonymous SNV S1091F 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17.5 168436 chr15 56736815 56736818 CTTT - rs749434250 MNS1 I170Mfs*21 0.003 0 0.003 0 3 0 0 1 0 0 0 0 168437 chr11 1078456 1078456 C T rs147211853 MUC2 Nonsynonymous SNV R222C 0.009 0.003 0 4 10 1 0.01 0 0 0 0 0 25.4 168438 chr3 148614411 148614411 G A CPA3 Nonsynonymous SNV E391K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 168439 chr7 36661320 36661320 T C AOAH Nonsynonymous SNV R185G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 168440 chr15 41829184 41829184 C T rs200748913 RPAP1 Nonsynonymous SNV R47Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.514 168441 chr15 63893739 63893739 G A rs140242880 FBXL22 Nonsynonymous SNV A200T 0.006 0 0 0 7 0 0 0 0 0 0 0 1.759 168442 chr3 168834009 168834009 C G rs780293564 MECOM Nonsynonymous SNV V363L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 168443 chr7 45222996 45222996 C T rs148672031 RAMP3 Synonymous SNV T144T 0.004 0 0 6 5 0 0.015 0 0 0 0 0 12.43 168444 chr12 56082012 56082012 A G rs17117879 ITGA7 Synonymous SNV L563L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 7.554 168445 chr15 68489810 68489810 G T rs2280217 CALML4 Nonsynonymous SNV T39K 0.006 0.008 0.003 1 7 3 0.003 1 0 0 0 0 14.77 168446 chr11 117352705 117352705 G T rs767055301 DSCAML1 Nonsynonymous SNV N844K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.039 168447 chr14 77493839 77493839 G T IRF2BPL Synonymous SNV A99A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.158 168448 chr15 44062748 44062748 C T rs200690601 PDIA3 Synonymous SNV A458A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.88 168449 chr12 57114856 57114856 A G NACA Nonsynonymous SNV F153S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.44 168450 chr13 23905577 23905577 C T rs150959878 SACS Synonymous SNV S3999S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.96 168451 chr12 57864222 57864222 C T rs368138761 GLI1 Nonsynonymous SNV P439S 0.005 0 0 4 6 0 0.01 0 0 0 0 0 23.1 168452 chr15 50785083 50785083 G A rs753936051 USP8 Nonsynonymous SNV R701Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 168453 chr7 55273269 55273269 C T rs142188270 EGFR Synonymous SNV L931L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 11.79 168454 chr7 55606324 55606324 - AGAT rs550916004 VOPP1 Frameshift insertion S11Vfs*195 0 0 0 2 0 0 0.005 0 0 0 0 0 168455 chr15 75941844 75941844 G T rs201961630 SNX33 Nonsynonymous SNV G134V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.44 168456 chr14 93119029 93119029 C T rs199542539 RIN3 Synonymous SNV T470T 0.003 0 0 0 4 0 0 0 0 0 0 0 12.06 168457 chr7 73097351 73097351 G A DNAJC30 Nonsynonymous SNV P135S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 168458 chr15 81592320 81592320 G C IL16 Nonsynonymous SNV G184R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 168459 chr11 5566517 5566517 G A OR52H1 Synonymous SNV L79L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.572 168460 chr15 62207854 62207854 T C rs34060567 VPS13C Nonsynonymous SNV K2765R 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign 21.8 168461 chr15 63032941 63032941 C T rs369042993 TLN2 Nonsynonymous SNV A1333V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 168462 chr15 100591856 100591856 G A rs781774740 ADAMTS17 Synonymous SNV S792S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.587 168463 chr11 124739885 124739885 C T ROBO3 Synonymous SNV S229S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.08 168464 chr15 67813994 67813994 A G IQCH-AS1 0.003 0 0 0 4 0 0 0 1 0 0 0 7.426 168465 chr7 82583284 82583284 C T rs370403349 PCLO Nonsynonymous SNV E2329K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.69 168466 chr15 101775614 101775614 C T rs146047900 CHSY1 Synonymous SNV K163K 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.01 168467 chr15 86124597 86124597 A G AKAP13 Nonsynonymous SNV M1100V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.03 168468 chr15 72190309 72190309 A G rs116934613 MYO9A Nonsynonymous SNV M1512T 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 23.1 168469 chr15 29428590 29428590 C T rs972245246 FAM189A1 Synonymous SNV V302V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.19 168470 chr7 92762008 92762008 A G SAMD9L Nonsynonymous SNV Y1093H 0 0 0 3 0 0 0.008 0 0 0 0 0 25.5 168471 chr15 74467709 74467709 C T rs200887089 ISLR Synonymous SNV T170T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.724 168472 chr13 96665697 96665697 G A rs148108950 UGGT2 Nonsynonymous SNV P175L 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 24.8 168473 chr15 41192187 41192187 G A rs202222195 VPS18 Nonsynonymous SNV V391M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 168474 chr15 42185659 42185659 C G rs377126279 SPTBN5 Nonsynonymous SNV G13R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.492 168475 chr15 81592474 81592474 - T IL16 Frameshift insertion G236Wfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 168476 chr13 102106367 102106367 G A rs754422605 ITGBL1 Nonsynonymous SNV V78M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 168477 chr15 84639367 84639367 T C rs35135766 ADAMTSL3 Synonymous SNV S874S 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 5.631 168478 chr4 8021974 8021974 G A ABLIM2 Nonsynonymous SNV P409S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 168479 chr15 44912553 44912553 C T rs376143651 SPG11 Nonsynonymous SNV R890H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 168480 chr14 20404427 20404427 C T rs200761942 OR4K1 Nonsynonymous SNV T201M 0.005 0 0 2 6 0 0.005 0 0 0 0 0 23.5 168481 chr16 18845589 18845589 G T rs375985094 SMG1 Synonymous SNV I2834I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.9 168482 chr4 20535295 20535295 G A rs145094041 SLIT2 Nonsynonymous SNV V593M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.7 168483 chr16 19883729 19883729 C T rs114262543 GPRC5B Nonsynonymous SNV V278M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 25.1 168484 chr4 25673231 25673231 T G rs112461275 SLC34A2 Nonsynonymous SNV I311M 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Benign 4.986 168485 chr7 100841643 100841643 A G rs201472623 MOGAT3 Nonsynonymous SNV L166P 0 0 0 2 0 0 0.005 0 0 0 0 0 18.13 168486 chr7 100843731 100843731 A G rs200624649 MOGAT3 Nonsynonymous SNV Y59H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 168487 chr4 38830513 38830513 C T TLR6 Synonymous SNV L194L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.965 168488 chr7 103270503 103270503 T C rs747000656 RELN Synonymous SNV T862T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.013 168489 chr16 20999124 20999124 G C rs202097294 DNAH3 Nonsynonymous SNV A2212G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 168490 chr15 58904103 58904103 T C rs756019865 ADAM10 Synonymous SNV E502E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.356 168491 chr7 108155141 108155141 C T rs149043701 PNPLA8 Synonymous SNV T265T 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 6.635 168492 chr16 22201700 22201700 G A rs530901882 SDR42E2 Nonsynonymous SNV V623M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.426 168493 chr4 41686448 41686448 C A LIMCH1 Nonsynonymous SNV P743T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.043 168494 chr7 116546394 116546394 T C rs148390930 CAPZA2 Synonymous SNV F168F 0.002 0.003 0.007 6 2 1 0.015 2 0 0 0 0 11.51 168495 chr16 2333289 2333289 G A rs201051125 ABCA3 Synonymous SNV A1311A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.149 168496 chr15 64056343 64056343 C T rs376235781 HERC1 Synonymous SNV S326S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.65 168497 chr16 24578656 24578656 C T rs376567972 RBBP6 Synonymous SNV P594P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.432 168498 chr13 39585615 39585615 C G PROSER1 Nonsynonymous SNV A886P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 168499 chr16 30566693 30566693 C T rs201099236 ZNF764 Nonsynonymous SNV R349H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.4 168500 chr13 47275283 47275283 G A rs149945475 LRCH1 Nonsynonymous SNV M447I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.11 168501 chr13 47275340 47275340 T A rs749492624 LRCH1 Nonsynonymous SNV N466K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.743 168502 chr4 72897832 72897832 T C rs150945821 NPFFR2 Nonsynonymous SNV W72R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.047 168503 chr13 49096493 49096493 G A rs772268610 RCBTB2 Nonsynonymous SNV A3V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.53 168504 chr16 31382455 31382455 A G rs61761296 ITGAX Synonymous SNV A587A 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 0.431 168505 chr16 321029 321029 G A rs59557309 RGS11 Synonymous SNV P127P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.945 168506 chr16 334464 334464 A G rs115506610 PDIA2 Nonsynonymous SNV M93V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.002 168507 chr16 343691 343691 G A rs79781539 AXIN1 Synonymous SNV P661P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 0.779 168508 chr16 348233 348233 C T rs116350678 AXIN1 Nonsynonymous SNV G425S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.3 168509 chr16 3487104 3487104 G C rs77055452 ZNF597 Nonsynonymous SNV L199V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 168510 chr16 20635481 20635481 C T rs140314045 ACSM1 Synonymous SNV Q528Q 0.004 0 0 0 5 0 0 0 0 0 0 0 2.124 168511 chr16 4430908 4430908 G T VASN Synonymous SNV P10P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 168512 chr13 84454036 84454036 G C SLITRK1 Nonsynonymous SNV T536R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 168513 chr16 21624043 21624043 A G rs148659999 METTL9 Synonymous SNV T81T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.907 168514 chr4 87593597 87593597 A G rs762503873 PTPN13 Synonymous SNV S65S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.531 168515 chr11 66263216 66263216 C T rs200449999 DPP3 Stop gain R535X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 38 168516 chr7 143826587 143826587 C G rs201784448 OR2A14 Nonsynonymous SNV P128A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.4 168517 chr16 50753895 50753895 G T rs746542083 NOD2 Nonsynonymous SNV G870V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.008 168518 chr11 5020847 5020847 A T rs745966847 OR51L1 Nonsynonymous SNV D212V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 168519 chr16 27078672 27078672 C T rs114686980 C16orf82 Nonsynonymous SNV A119V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.878 168520 chr16 27506707 27506707 G A rs118142432 GTF3C1 Synonymous SNV T819T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.651 168521 chr16 28917045 28917045 C A rs201409528 RABEP2 Nonsynonymous SNV V491L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.571 168522 chr16 24919383 24919383 C T rs145761147 SLC5A11 Synonymous SNV S385S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 11.62 168523 chr16 30736165 30736165 C T rs150467782 SRCAP Nonsynonymous SNV A1807V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.3 168524 chr16 58543091 58543091 C A NDRG4 Nonsynonymous SNV Q289K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 168525 chr16 58749963 58749963 C T rs375005845 GOT2 Nonsynonymous SNV R282Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 168526 chr16 613839 613839 G A rs148849475 PRR35 Nonsynonymous SNV G182D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.99 168527 chr16 314881 314881 G A rs200909290 FAM234A Nonsynonymous SNV G507S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.2 168528 chr16 697442 697442 C A rs200129131 MCRIP2 Nonsynonymous SNV R70S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 168529 chr16 46766141 46766141 C T rs145205288 MYLK3 Nonsynonymous SNV E140K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.775 168530 chr14 23345078 23345078 T C LRP10 Synonymous SNV Y307Y 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.002 168531 chr4 143003264 143003264 T A rs774826907 INPP4B Synonymous SNV T854T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.55 168532 chr16 53860244 53860244 G T FTO Nonsynonymous SNV A172S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.78 168533 chr14 81658911 81658911 C A rs200502995 GTF2A1 Nonsynonymous SNV E295D 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 168534 chr8 18413805 18413805 C T rs977661861 PSD3 Nonsynonymous SNV E414K 0 0 0 2 0 0 0.005 0 0 0 0 0 35 168535 chr11 56237722 56237722 T C rs605734 OR5M3 Synonymous SNV L84L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.06 168536 chr16 1840711 1840711 C T rs143070371 IGFALS Nonsynonymous SNV D608N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.9 168537 chr16 1869987 1869987 C T rs114352351 HAGH Nonsynonymous SNV V115I 0.004 0.003 0.003 7 5 1 0.018 1 0 0 0 0 7.167 168538 chr16 18853644 18853644 T C rs768643965 SMG1 Nonsynonymous SNV T2118A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.754 168539 chr8 22167475 22167475 T C rs139133214 PIWIL2 Nonsynonymous SNV I563T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.05 168540 chr16 618214 618214 C T rs200060251 NHLRC4 Nonsynonymous SNV S56F 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 15.4 168541 chr16 2028436 2028436 G A rs748724773 TBL3 Nonsynonymous SNV V753M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.676 168542 chr16 841874 841874 G A rs367916369 CHTF18 Synonymous SNV P376P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 168543 chr16 67184131 67184131 G C rs746311278 B3GNT9 Synonymous SNV R86R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.457 168544 chr8 23563874 23563874 C G rs376769591 NKX2-6 Nonsynonymous SNV V80L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.628 168545 chr16 69718796 69718796 C G rs150693156 NFAT5 Nonsynonymous SNV A341G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.2 168546 chr8 27402021 27402021 G A rs199656145 EPHX2 Synonymous SNV P484P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 6.763 168547 chr8 27887831 27887831 G A rs202103381 NUGGC Synonymous SNV Y671Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.138 168548 chr8 37654907 37654907 A G rs73592885 ADGRA2 Nonsynonymous SNV I41V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.52 168549 chr8 38678153 38678153 C T TACC1 Nonsynonymous SNV T269M 0 0 0 2 0 0 0.005 0 0 0 0 0 34 168550 chr16 88787098 88787098 T G rs945128273 PIEZO1 Nonsynonymous SNV R1909S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.772 168551 chr8 41574492 41574492 G A rs371090454 ANK1 Synonymous SNV A461A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.39 168552 chr4 189061010 189061010 A G rs111308948 TRIML1 Nonsynonymous SNV T100A 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.062 168553 chr16 29818634 29818634 C T rs200279675 MAZ Synonymous SNV V176V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.21 168554 chr16 81060211 81060211 C G rs750900132 CENPN Nonsynonymous SNV P240A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.69 168555 chr16 304639 304639 C T rs768949076 FAM234A Nonsynonymous SNV P76L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.91 168556 chr16 84027985 84027985 C T NECAB2 Synonymous SNV H142H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.033 168557 chr16 90102855 90102855 C T rs773017850 GAS8 Nonsynonymous SNV T14I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.3 168558 chr15 40488914 40488914 A C rs28989188 BUB1B Nonsynonymous SNV E409D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 168559 chr16 84227552 84227552 C G LOC654780 0.001 0 0 0 1 0 0 0 0 0 0 0 1.082 168560 chr14 64637028 64637028 G A rs747649889 SYNE2 Nonsynonymous SNV V5695I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 168561 chr15 41036310 41036310 C T rs775881556 RMDN3 Nonsynonymous SNV R282Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 168562 chr16 84215015 84215015 C T rs150355563 TAF1C Synonymous SNV S55S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.84 168563 chr16 3778558 3778558 G A rs766714742 CREBBP Synonymous SNV L2126L 0.004 0 0 0 5 0 0 0 0 0 0 0 0.736 168564 chr8 90782155 90782155 T C rs140457229 RIPK2 Synonymous SNV Y213Y 0 0 0 2 0 0 0.005 0 0 0 0 0 1.309 168565 chr14 73711448 73711448 C T rs752142488 PAPLN Nonsynonymous SNV R51C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 168566 chr11 62848518 62848518 G A rs370756811 SLC22A24 Nonsynonymous SNV A491V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 168567 chr14 73731313 73731313 C T rs45574438 PAPLN Synonymous SNV L1002L 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 11.66 168568 chr14 73739369 73739369 G A rs41310938 PAPLN Synonymous SNV Q1278Q 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 14.17 168569 chr16 85682353 85682353 G A rs768318723 GSE1 Nonsynonymous SNV R37Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 168570 chr14 74206571 74206571 G A rs45489992 ELMSAN1 Synonymous SNV L47L 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 0.013 168571 chr15 43028813 43028813 G A rs543791953 CDAN1 Nonsynonymous SNV P86S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.767 168572 chr8 100520087 100520087 G A rs75933366 VPS13B Nonsynonymous SNV R1416Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26.5 168573 chr8 101225559 101225559 C T SPAG1 Synonymous SNV A446A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 18.14 168574 chr15 45412338 45412338 A G DUOXA1 Synonymous SNV T200T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.243 168575 chr16 53272258 53272258 A C rs573062372 CHD9 Synonymous SNV R879R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.293 168576 chr16 53289619 53289619 C T rs750843547 CHD9 Synonymous SNV I1379I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.51 168577 chr17 18219141 18219141 A C SMCR8 Nonsynonymous SNV E13A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22 168578 chr8 110598295 110598297 GAA - rs779369474 SYBU S45del 0 0 0 1 0 0 0.003 0 0 0 0 0 168579 chr15 50555570 50555570 C T rs375479150 HDC Synonymous SNV L22L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 168580 chr16 88789709 88789709 C T rs191656121 PIEZO1 Nonsynonymous SNV A1455T 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 23 168581 chr8 124195292 124195292 G T FAM83A Nonsynonymous SNV V66L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.7 168582 chr8 124447753 124447753 A T rs1019702620 WDYHV1 Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 0 1.264 168583 chr15 54307020 54307020 G A rs1057007878 UNC13C Synonymous SNV R640R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 168584 chr15 55648335 55648335 G T rs563075104 DNAAF4-CCPG1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.9 168585 chr8 125025686 125025686 G T rs746517771 FER1L6 Stop gain E613X 0 0 0 1 0 0 0.003 0 0 0 0 0 43 168586 chr14 91338562 91338562 C T rs144832163 RPS6KA5 Synonymous SNV T536T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 18.73 168587 chr5 64859228 64859228 G A rs754013368 PPWD1 Nonsynonymous SNV E31K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.144 168588 chr15 62360174 62360174 T C rs761653091 C2CD4A Nonsynonymous SNV L121P 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 168589 chr16 67314997 67314997 C T rs535977084 PLEKHG4 Synonymous SNV P160P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.65 168590 chr16 919928 919928 C T rs747350625 LMF1 Synonymous SNV P348P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.42 168591 chr17 26900556 26900556 G A rs749834508 ALDOC Synonymous SNV N361N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.79 168592 chr15 65370350 65370350 C T rs150830358 KBTBD13 Synonymous SNV R399R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 14.6 168593 chr14 94936035 94936035 T G SERPINA9 Nonsynonymous SNV N48T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.8 168594 chr17 28749764 28749764 G A rs117331885 CPD Synonymous SNV R213R 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 7.606 168595 chr14 95081116 95081116 C T rs372323053 SERPINA3 Nonsynonymous SNV A113V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 11.11 168596 chr17 17898345 17898345 C G rs73303853 DRC3 Nonsynonymous SNV F248L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 168597 chr17 1538767 1538767 G A rs371673485 SCARF1 Nonsynonymous SNV A593V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 168598 chr17 33443915 33443915 C T rs147933658 RAD51D Nonsynonymous SNV A96T 0.003 0.005 0.01 1 4 2 0.003 3 0 0 0 0 Benign/Likely benign 0.659 168599 chr16 72138989 72138989 G A rs201461331 DHX38 Nonsynonymous SNV A739T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Uncertain significance 21.8 168600 chr17 34147366 34147366 A C TAF15 Nonsynonymous SNV N69T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 15.08 168601 chr17 17071160 17071160 A G rs569713155 MPRIP Synonymous SNV G2117G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21 168602 chr16 75203379 75203379 G T rs140229519 ZFP1 Nonsynonymous SNV R91I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.4 168603 chr11 71146779 71146779 T G DHCR7 Nonsynonymous SNV Q357P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 168604 chr15 75500598 75500598 - CAGCCCGGGATCCAGCTC rs757031916 C15orf39 A744_P745insRDPAPA 0.002 0 0 0 2 0 0 0 0 0 0 0 168605 chr16 77353778 77353778 G A rs139553755 ADAMTS18 Nonsynonymous SNV P662S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 1.235 168606 chr15 34646739 34646739 G C NUTM1 Nonsynonymous SNV E380Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 168607 chr15 80478500 80478500 C T rs111345782 FAH Synonymous SNV I403I 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 15.84 168608 chr15 40492521 40492521 C T rs146795655 BUB1B Nonsynonymous SNV T493I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 8.297 168609 chr11 76867060 76867060 C G MYO7A Synonymous SNV P131P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.27 168610 chr17 29852233 29852233 A G rs1043177491 RAB11FIP4 Nonsynonymous SNV E160G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 168611 chr15 40750942 40750942 G A rs202044593 BAHD1 Synonymous SNV P93P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.557 168612 chr17 32962034 32962034 C T rs140125786 TMEM132E Synonymous SNV G635G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 15.61 168613 chr15 41862457 41862457 A G rs201443654 TYRO3 Nonsynonymous SNV M423V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.133 168614 chr16 84695511 84695511 G A rs531559452 KLHL36 Synonymous SNV V478V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.373 168615 chr17 26856204 26856204 G T FOXN1 Synonymous SNV G264G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.356 168616 chr15 89401770 89401770 G A ACAN Nonsynonymous SNV S1985N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 168617 chr5 115783444 115783444 A G rs760225409 SEMA6A Nonsynonymous SNV I653T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 168618 chr5 118469468 118469468 G A rs146704342 DMXL1 Nonsynonymous SNV E617K 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 26.1 168619 chr15 89449925 89449925 A C rs149412178 MFGE8 Nonsynonymous SNV F114V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.3 168620 chr11 82997004 82997004 G A rs186527054 CCDC90B Synonymous SNV R4R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.956 168621 chr11 85961371 85961371 A C rs149126431 EED Nonsynonymous SNV T50P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 13.19 168622 chr5 127471401 127471401 G T SLC12A2 Nonsynonymous SNV V437F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 168623 chr9 8500902 8500902 G A rs61733168 PTPRD Synonymous SNV H660H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 5.926 168624 chr5 132736575 132736575 C T rs766596334 FSTL4 Synonymous SNV Q88Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 168625 chr5 134785154 134785154 C A TIFAB Nonsynonymous SNV G159V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 168626 chr17 37566003 37566003 T A MED1 Nonsynonymous SNV D824V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 168627 chr12 52283273 52283273 G A rs201776222 ANKRD33 Nonsynonymous SNV C11Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.28 168628 chr11 9111311 9111311 T C SCUBE2 Nonsynonymous SNV T67A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.959 168629 chr15 93588870 93588870 G A rs112623341 RGMA Synonymous SNV D221D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.978 168630 chr16 89348973 89348973 G A rs144673419 ANKRD11 Nonsynonymous SNV T1326M 0.008 0.003 0 0 9 1 0 0 0 0 0 0 Likely benign 13.82 168631 chr16 89985768 89985768 G C rs758135673 MC1R Synonymous SNV R34R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.057 168632 chr17 10432931 10432931 C G rs201925793 MYH2 Nonsynonymous SNV V1023L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.9 168633 chr15 54307871 54307871 G A rs147997234 UNC13C Nonsynonymous SNV G924D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.49 168634 chr17 37900378 37900378 G T rs145986585 GRB7 Nonsynonymous SNV G240V 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 23.6 168635 chr12 53552336 53552336 A T rs201988379 CSAD Nonsynonymous SNV F248I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 168636 chr17 38100448 38100448 G C rs145974830 LRRC3C Nonsynonymous SNV G97R 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 23.5 168637 chr15 57924714 57924714 A C rs147301839 GCOM1, MYZAP Nonsynonymous SNV Q254P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21 168638 chr15 58253373 58253373 G T rs201017534 ALDH1A2 Synonymous SNV A361A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.118 168639 chr12 53876610 53876610 T C MAP3K12 Synonymous SNV T659T 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 0.772 168640 chr17 1371413 1371413 G A MYO1C Nonsynonymous SNV A922V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.5 168641 chr17 38910264 38910264 C T rs146293609 KRT25 Nonsynonymous SNV E173K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.1 168642 chr12 105601801 105601801 T C APPL2 Nonsynonymous SNV D147G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.2 168643 chr17 17696879 17696879 G T rs1023789134 RAI1 Nonsynonymous SNV G206V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.233 168644 chr5 149901149 149901149 C T rs745500787 NDST1 Synonymous SNV Y111Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.846 168645 chr16 19641142 19641142 G A rs144908771 VPS35L Synonymous SNV T451T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.32 168646 chr17 39969307 39969307 C T rs781985978 FKBP10 Synonymous SNV P7P 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.29 168647 chr17 40379679 40379679 T C STAT5B Synonymous SNV P51P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.057 168648 chr5 150947210 150947210 T C FAT2 Nonsynonymous SNV H428R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 168649 chr12 11214191 11214191 G A rs370059980 TAS2R46 Nonsynonymous SNV L235F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.7 168650 chr9 94486536 94486536 C T rs201155263 ROR2 Nonsynonymous SNV R747Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 22.6 168651 chr17 25628937 25628937 A G rs766361716 WSB1 Nonsynonymous SNV H55R 0.003 0 0 6 3 0 0.015 0 0 0 0 0 14.82 168652 chr16 29819997 29819997 A G rs538695234 MAZ Nonsynonymous SNV Y100C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 168653 chr16 30371116 30371116 G A TBC1D10B Nonsynonymous SNV P440S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 168654 chr17 46628179 46628179 G C rs35517955 HOXB3 Synonymous SNV S271S 0.013 0.008 0.003 5 15 3 0.013 1 0 0 0 0 3.006 168655 chr5 176011984 176011984 C T rs35018750 CDHR2 Nonsynonymous SNV T901M 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 25.2 168656 chr17 636366 636366 G A rs763068590 TLCD3A Nonsynonymous SNV A51T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 168657 chr15 86266509 86266509 G C rs752600448 AKAP13 Nonsynonymous SNV D856H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28 168658 chr15 86278362 86278362 T G rs753498004 AKAP13 Nonsynonymous SNV H1095Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.9 168659 chr12 124832860 124832860 C A rs372325371 NCOR2 Nonsynonymous SNV G1272V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.1 168660 chr5 178977632 178977632 - GCCGGG rs745756258 RUFY1 G27_S28insPG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 168661 chr15 89790931 89790931 A G FANCI Nonsynonymous SNV Q18R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.83 168662 chr17 34183736 34183736 G A rs746875869 HEATR9 Nonsynonymous SNV A369V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 168663 chr9 117853237 117853237 C T rs141126037 TNC Nonsynonymous SNV E21K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.8 168664 chr15 90771834 90771834 C T rs373043698 SEMA4B Nonsynonymous SNV R687W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 168665 chr17 36485978 36485978 - T GPR179 Frameshift insertion N1158Kfs*36 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 168666 chr17 56382463 56382463 C T rs375624445 TSPOAP1 Nonsynonymous SNV G1775S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.082 168667 chr17 56700371 56700371 C A TEX14 Nonsynonymous SNV R85L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 35 168668 chr15 99434645 99434645 C T rs765728831 IGF1R Synonymous SNV N244N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 168669 chr17 72342562 72342562 C T rs943591437 KIF19 Nonsynonymous SNV R275C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 168670 chr17 60042388 60042388 G A rs151011641 MED13 Nonsynonymous SNV P1608L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 24.5 168671 chr17 72850931 72850931 T A rs937774274 GRIN2C Nonsynonymous SNV T101S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 168672 chr17 38926017 38926017 G A rs748409457 KRT26 Nonsynonymous SNV L320F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 168673 chr17 7340751 7340751 C T rs146078823 TMEM102 Nonsynonymous SNV R485C 0.005 0.008 0.01 4 6 3 0.01 3 0 0 0 0 22.1 168674 chr17 39086227 39086227 T C rs748784785 KRT23 Nonsynonymous SNV K64E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 168675 chr6 27100937 27100937 C T H2AC11 Synonymous SNV G29G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.93 168676 chr6 27368977 27368977 C T rs181937290 ZNF391 Synonymous SNV P276P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.85 168677 chr13 115090807 115090807 G A CHAMP1 Nonsynonymous SNV R497Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 168678 chr6 33663489 33663489 A G ITPR3 Nonsynonymous SNV M2650V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.94 168679 chr16 1821092 1821092 G A NME3 Synonymous SNV A86A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.998 168680 chr17 6927861 6927861 C A rs201381206 BCL6B Synonymous SNV P181P 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 11.76 168681 chr16 20752843 20752843 A G THUMPD1 Synonymous SNV Y73Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.361 168682 chr12 46320353 46320353 T C SCAF11 Nonsynonymous SNV E1044G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.61 168683 chr6 36990139 36990139 G A rs749655959 FGD2 Nonsynonymous SNV C484Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.6 168684 chr6 38120060 38120060 A G rs75226624 ZFAND3 Synonymous SNV T193T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.054 168685 chr17 76160362 76160362 C T rs897643617 C17orf99 Nonsynonymous SNV P186L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.495 168686 chr12 48185430 48185430 G A rs149143170 HDAC7 Synonymous SNV H587H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.6 168687 chr16 22128440 22128440 G A rs190993595 VWA3A Synonymous SNV L311L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 168688 chr17 76425256 76425256 C T rs929904834 DNAH17 Synonymous SNV E4117E 0.003 0 0 0 3 0 0 0 0 0 0 0 9.365 168689 chr13 32365986 32365986 C T rs769923825 RXFP2 Stop gain R373X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 42 168690 chr12 48459406 48459406 C T rs200564219 SENP1 Synonymous SNV K364K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.1 168691 chr12 48539413 48539413 C T rs374418157 PFKM Synonymous SNV Y755Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 14.7 168692 chr17 40253855 40253855 C T rs117253612 DHX58 Nonsynonymous SNV R654H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 168693 chr16 23079681 23079681 A T USP31 Nonsynonymous SNV L1249M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.264 168694 chr16 23768611 23768611 G C rs150633217 CHP2 Synonymous SNV G168G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.756 168695 chr17 73497583 73497583 C A rs140270094 CASKIN2 Nonsynonymous SNV A1080S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 34 168696 chr6 44224181 44224181 G - SLC35B2 K82Rfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 168697 chr16 78458872 78458872 C G rs769589145 WWOX Nonsynonymous SNV F124L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 168698 chr9 140000615 140000615 G T MAN1B1 Synonymous SNV L431L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.355 168699 chr9 140082242 140082242 G A rs200629106 ANAPC2 Nonsynonymous SNV T144I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.01 168700 chr9 140138164 140138164 G A rs533033115 FAM166A Synonymous SNV N314N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.005 168701 chr13 75887024 75887024 C G TBC1D4 Nonsynonymous SNV G682R 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 168702 chr17 76497989 76497989 G A rs144086984 DNAH17-AS1 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 3.535 168703 chr17 79250914 79250914 C T rs149780280 SLC38A10 Nonsynonymous SNV D216N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 168704 chr17 47799922 47799922 C T rs115710595 FAM117A Nonsynonymous SNV R134H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 168705 chr16 84493354 84493354 C T ATP2C2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.903 168706 chr10 5810309 5810309 G A rs750173978 GDI2 Synonymous SNV Y241Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.77 168707 chr13 99907947 99907947 A G rs147490848 GPR18 Synonymous SNV Y60Y 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 0.001 168708 chr17 49371335 49371335 T C rs528472376 UTP18 Synonymous SNV H525H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.923 168709 chr17 78321927 78321927 C T rs760817075 RNF213 Synonymous SNV P3264P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.04 168710 chr10 13698886 13698886 C T rs753536105 FRMD4A Synonymous SNV S592S 0 0 0 3 0 0 0.008 0 0 0 0 0 12 168711 chr12 55523788 55523788 G A rs145656923 OR9K2 Nonsynonymous SNV R79Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.85 168712 chr14 104121119 104121119 G A rs767453920 KLC1 Nonsynonymous SNV R73Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 168713 chr16 88801453 88801453 G A rs866830948 PIEZO1 Nonsynonymous SNV R560W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 168714 chr17 78061570 78061570 C T CCDC40 Synonymous SNV L872L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.793 168715 chr16 88927325 88927325 C T rs145436039 TRAPPC2L Synonymous SNV A133A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 168716 chr10 26385560 26385560 C G rs201882363 MYO3A Synonymous SNV S575S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.7 168717 chr18 2544689 2544689 G T rs756566772 METTL4 Nonsynonymous SNV L382M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 168718 chr17 8048139 8048139 G A rs374780420 PER1 Synonymous SNV R797R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 10.78 168719 chr10 28149752 28149752 A C rs575075615 ARMC4 Nonsynonymous SNV H466Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 23.1 168720 chr17 62492797 62492797 G A rs782219499 POLG2 Nonsynonymous SNV P97L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.9 168721 chr16 602192 602192 G A rs377092672 CAPN15 Synonymous SNV A829A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.11 168722 chr16 904604 904604 G A rs201312320 LMF1 Nonsynonymous SNV P518S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.368 168723 chr12 58191705 58191705 C T AVIL Stop gain W807X 0.004 0 0 1 5 0 0.003 0 0 0 0 0 47 168724 chr17 8110254 8110254 T G rs376696548 AURKB 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 4.566 168725 chr17 11597641 11597641 G T rs377027573 DNAH9 Nonsynonymous SNV L1583F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.1 168726 chr6 110777826 110777826 G A rs199818592 SLC22A16 Stop gain R150X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 168727 chr17 79910978 79910978 G A rs775213691 NOTUM Synonymous SNV P450P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.884 168728 chr10 34408552 34408552 G A rs151056450 PARD3 Synonymous SNV S1110S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.29 168729 chr17 9631945 9631945 C T rs770651491 USP43 Nonsynonymous SNV R999W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 168730 chr16 69373441 69373441 C G COG8 Synonymous SNV A5A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.74 168731 chr10 43601913 43601913 C A rs149926238 RET Synonymous SNV L65L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.1 168732 chr6 112430729 112430729 G A rs782153502 LAMA4 Nonsynonymous SNV H1795Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.8 168733 chr10 43615109 43615109 G T rs56195026 RET Synonymous SNV P587P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.515 168734 chr16 70400612 70400612 G T DDX19A Nonsynonymous SNV D259Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 168735 chr12 6568066 6568066 T C rs142002557 TAPBPL Nonsynonymous SNV I387T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.59 168736 chr17 8013757 8013757 T C rs756064543 ALOXE3 Synonymous SNV P348P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 8.065 168737 chr14 23072533 23072533 G A rs150612174 ABHD4 Synonymous SNV P117P 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 10.48 168738 chr18 43481026 43481026 T C rs200617597 EPG5 Synonymous SNV L1527L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 2.315 168739 chr17 67519761 67519761 A G rs753249351 MAP2K6 Synonymous SNV A158A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.951 168740 chr10 49943963 49943963 A G rs866785917 WDFY4 Nonsynonymous SNV I576V 0 0 0 3 0 0 0.008 0 0 0 0 0 22.9 168741 chr18 54814582 54814582 C T rs902016033 BOD1L2 Synonymous SNV G13G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.12 168742 chr14 24626754 24626754 C T rs200256698 RNF31 Synonymous SNV Y727Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.568 168743 chr14 24780672 24780672 G A rs766951406 LTB4R2 Nonsynonymous SNV A268T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.37 168744 chr18 12254857 12254857 C T rs759060117 CIDEA Synonymous SNV N14N 0.004 0 0 1 5 0 0.003 0 0 0 0 0 9.274 168745 chr10 50678918 50678918 G C ERCC6 Nonsynonymous SNV Q1030E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.85 168746 chr12 78415575 78415575 T C rs1018057666 NAV3 Synonymous SNV C652C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.989 168747 chr6 135318752 135318752 T C HBS1L Synonymous SNV Q152Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.403 168748 chr10 61959931 61959931 G A rs377592480 ANK3 Nonsynonymous SNV R466W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 168749 chr16 842551 842551 G T rs376373561 CHTF18 Nonsynonymous SNV G480V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.862 168750 chr10 69644881 69644883 GGC - rs36062014 SIRT1 A139del 0 0 0 1 0 0 0.003 0 0 0 0 0 168751 chr10 69991269 69991269 G A rs376033950 ATOH7 Nonsynonymous SNV L56F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 168752 chr18 28650748 28650748 A C rs151024019 DSC2 Nonsynonymous SNV L732V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.099 168753 chr10 70645658 70645658 T A rs752653196 STOX1 Nonsynonymous SNV D702E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.008 168754 chr18 29111109 29111109 G A rs193922639 DSG2 Nonsynonymous SNV V392I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.99 168755 chr12 91546967 91546967 C T DCN 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 168756 chr18 72178216 72178216 G A rs747958571 CNDP2 Nonsynonymous SNV G125S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 168757 chr18 76755196 76755196 G A rs756401771 SALL3 Nonsynonymous SNV G1069S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.583 168758 chr10 75526283 75526283 C T rs148361947 SEC24C Nonsynonymous SNV R595W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 168759 chr16 88958323 88958323 G C rs147221198 CBFA2T3 Nonsynonymous SNV F140L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 168760 chr16 89264556 89264556 G A SLC22A31 Nonsynonymous SNV S281F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 168761 chr18 54629714 54629714 G A rs780171730 WDR7 Nonsynonymous SNV R1340H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 168762 chr14 64518509 64518509 T C rs965935317 SYNE2 Synonymous SNV D2626D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 168763 chr17 7722251 7722251 C T rs142627042 DNAH2 Nonsynonymous SNV A3562V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 168764 chr17 34398317 34398317 A T rs763341723 CCL18 Synonymous SNV L62L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.018 168765 chr18 56202842 56202842 T C ALPK2 Nonsynonymous SNV Q1526R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 168766 chr17 77914771 77914771 C T rs756894540 TBC1D16 Nonsynonymous SNV G356S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 168767 chr17 10450876 10450876 G A rs138646250 MYH2 Synonymous SNV I88I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 168768 chr6 168370492 168370492 G A rs138128425 AFDN Synonymous SNV G1703G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.849 168769 chr17 10555833 10555833 C T rs147410236 MYH3 Synonymous SNV K84K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.27 168770 chr19 1095309 1095309 G A rs200508949 POLR2E Synonymous SNV D2D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.55 168771 chr17 78355462 78355462 C T rs141301945 RNF213 Nonsynonymous SNV T4638I 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Likely benign 24.6 168772 chr14 71575584 71575584 G A rs139288213 PCNX1 Nonsynonymous SNV G2078S 0 0.008 0.003 0 0 3 0 1 0 0 0 0 22.1 168773 chr17 79219397 79219397 G A rs373678493 SLC38A10 Nonsynonymous SNV R1107W 0.003 0 0 0 3 0 0 0 0 0 0 0 32 168774 chr18 70461409 70461409 A G rs149295184 NETO1 Synonymous SNV A194A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.729 168775 chr19 10397870 10397870 C T rs141882537 ICAM4 Nonsynonymous SNV P61L 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.4 168776 chr10 102054822 102054822 C T rs199649746 PKD2L1 Nonsynonymous SNV R425H 0 0 0 2 0 0 0.005 0 0 0 0 0 35 168777 chr18 77097432 77097432 C T rs976628308 ATP9B Nonsynonymous SNV R756C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.7 168778 chr19 10668469 10668469 G A KRI1 Stop gain Q488X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 168779 chr7 12400835 12400835 C T rs117828350 VWDE Nonsynonymous SNV V918I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 11.85 168780 chr10 104160186 104160186 G A rs200227171 NFKB2 Nonsynonymous SNV R579H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.68 168781 chr10 104459172 104459172 G A rs772193943 ARL3 Synonymous SNV I74I 0 0 0 2 0 0 0.005 0 0 0 0 0 14.03 168782 chr10 105792725 105792725 A G rs571566750 COL17A1 Synonymous SNV T1432T 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 8.669 168783 chr19 11978715 11978715 A G rs144234723 ZNF439 Synonymous SNV K141K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.301 168784 chr19 1226562 1226562 G A rs769772524 STK11 Synonymous SNV A406A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 12.59 168785 chr10 115336941 115336941 C T rs78201625 HABP2 Nonsynonymous SNV R96W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 28.5 168786 chr7 29924075 29924075 C T WIPF3 Nonsynonymous SNV T322I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.262 168787 chr13 78317207 78317207 C T rs1040837748 SLAIN1 Nonsynonymous SNV P111S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.1 168788 chr19 1226569 1226569 C T rs368466538 STK11 Nonsynonymous SNV R409W 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 168789 chr14 100363617 100363617 C T rs544894253 EML1 Synonymous SNV N271N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15 168790 chr17 4461892 4461892 C G rs143789021 GGT6 Nonsynonymous SNV Q268H 0.005 0.005 0 0 6 2 0 0 0 0 0 0 18.07 168791 chr19 16982098 16982098 G A SIN3B Synonymous SNV L417L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 168792 chr19 18652518 18652518 G A rs552738926 FKBP8 Nonsynonymous SNV P88L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.61 168793 chr17 45891136 45891136 C T rs772263023 OSBPL7 Synonymous SNV G472G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 168794 chr7 47408148 47408148 T C rs375273859 TNS3 Nonsynonymous SNV I699V 0.003 0 0 0 3 0 0 0 1 0 0 0 24.7 168795 chr19 19049180 19049180 A C rs765873598 HOMER3 Synonymous SNV S95S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.056 168796 chr18 44408027 44408027 T A PIAS2 Nonsynonymous SNV D468V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 168797 chr19 17435739 17435739 C G rs777176898 ANO8 Nonsynonymous SNV E1040Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 168798 chr19 21366806 21366806 T C ZNF431 Nonsynonymous SNV L568P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.57 168799 chr14 105517427 105517427 C T rs766696180 GPR132 Synonymous SNV S161S 0.01 0.008 0 1 12 3 0.003 0 0 0 0 0 12.35 168800 chr17 54972920 54972920 G T rs61731985 TRIM25 Nonsynonymous SNV P409Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.672 168801 chr19 19737387 19737387 G A rs145986311 LPAR2 Nonsynonymous SNV T236M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 9.99 168802 chr17 55075849 55075849 A G rs374640926 SCPEP1 Synonymous SNV Q328Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.84 168803 chr17 56283840 56283840 A C rs137853105 MKS1 Nonsynonymous SNV C289W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 168804 chr15 43739631 43739631 C T TP53BP1 Synonymous SNV L923L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 168805 chr19 18376151 18376151 C T rs945479797 IQCN Synonymous SNV A733A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.88 168806 chr19 36004130 36004130 A T rs772204606 DMKN Nonsynonymous SNV V83D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 168807 chr19 18779455 18779455 C T rs372983424 KLHL26 Synonymous SNV Y445Y 0.003 0 0 0 3 0 0 0 0 0 0 0 7.908 168808 chr7 97822531 97822531 C T rs139880393 LMTK2 Synonymous SNV L918L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.722 168809 chr7 99454505 99454505 A C rs1026256325 CYP3A43 Nonsynonymous SNV E173A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.19 168810 chr19 19381881 19381881 G A rs184254301 TM6SF2 Nonsynonymous SNV A50V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.7 168811 chr18 77659370 77659370 G A rs201538204 KCNG2 Nonsynonymous SNV A319T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 168812 chr7 100174735 100174735 G A rs773742849 LRCH4 Synonymous SNV A446A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.43 168813 chr14 24880604 24880604 A G NYNRIN Nonsynonymous SNV I864V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 168814 chr19 35504510 35504510 G A rs182927749 GRAMD1A Nonsynonymous SNV R255H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.88 168815 chr17 6945669 6945669 C T rs200478682 SLC16A11 Nonsynonymous SNV G254R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.39 168816 chr17 7224433 7224433 C T rs79385421 NEURL4 Nonsynonymous SNV G1118R 0.005 0.008 0 3 6 3 0.008 0 0 0 0 0 15.42 168817 chr17 7224970 7224970 G A rs768269590 NEURL4 Nonsynonymous SNV T1001M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 168818 chr17 7250553 7250553 C T rs149214595 ACAP1 Synonymous SNV G445G 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 14.56 168819 chr17 46051392 46051392 A T CDK5RAP3 Nonsynonymous SNV M119L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 168820 chr19 11215990 11215990 C T rs759738744 LDLR Synonymous SNV D95D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.97 168821 chr19 11327763 11327763 C T rs200053961 DOCK6 Nonsynonymous SNV A1241T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 168822 chr19 41198194 41198194 C T COQ8B Nonsynonymous SNV E420K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 168823 chr14 58047980 58047980 G A SLC35F4 Synonymous SNV V252V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.21 168824 chr14 58698961 58698961 G - ACTR10 A350Lfs*48 0.002 0 0 1 2 0 0.003 0 0 0 0 0 168825 chr19 14073965 14073965 T C rs754461637 RFX1 Nonsynonymous SNV K898R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 168826 chr19 39221641 39221641 A C rs758046516 CAPN12 Nonsynonymous SNV D699E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.09 168827 chr19 1487981 1487981 C T rs151115553 PCSK4 Synonymous SNV P166P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.47 168828 chr14 62547971 62547971 G A rs776611703 SYT16 Synonymous SNV L290L 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 7.64 168829 chr19 42796326 42796326 A C rs776477130 CIC Nonsynonymous SNV Q992P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.33 168830 chr7 103062016 103062016 T C rs116900495 SLC26A5 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 13.91 168831 chr7 106508042 106508043 GA - rs771137585 PIK3CG E14Gfs*147 0.001 0 0 0 1 0 0 0 0 0 0 0 168832 chr19 15272378 15272378 C G NOTCH3 Nonsynonymous SNV V2021L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 168833 chr19 15567044 15567044 C T rs199543113 RASAL3 Nonsynonymous SNV R531H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 168834 chr7 111555943 111555943 T C rs201411939 DOCK4 Synonymous SNV L361L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.896 168835 chr14 73029556 73029556 G A rs550852906 RGS6 Nonsynonymous SNV V598I 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 5.051 168836 chr19 42776507 42776507 G A rs564911507 CIC Nonsynonymous SNV G191D 0.006 0 0.003 0 7 0 0 1 0 0 0 0 12.24 168837 chr17 6373672 6373672 C A PITPNM3 Nonsynonymous SNV V525F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 168838 chr19 44057584 44057584 G C rs2307170 XRCC1 Synonymous SNV L190L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.08 168839 chr19 45555379 45555379 G A rs754500120 CLASRP Synonymous SNV V50V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.74 168840 chr19 4101261 4101261 C T rs141402203 MAP2K2 Synonymous SNV A182A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 21.4 168841 chr19 18084953 18084953 C T rs753932890 KCNN1 Nonsynonymous SNV P86S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.232 168842 chr7 135106947 135106947 G A rs747257106 CNOT4 Synonymous SNV L110L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.06 168843 chr19 18120687 18120687 C T rs781096834 ARRDC2 Stop gain R225X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 168844 chr19 44514487 44514487 C T rs200281764 ZNF230 Nonsynonymous SNV T99I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 168845 chr19 1827573 1827573 C T rs141908997 REXO1 Synonymous SNV G405G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.91 168846 chr7 138968412 138968412 T G rs201511798 UBN2 Nonsynonymous SNV S921A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 1.38 168847 chr19 4817578 4817578 G A rs767551524 TICAM1 Nonsynonymous SNV P271L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.053 168848 chr19 18979731 18979731 C T rs571126746 GDF1 Nonsynonymous SNV G265D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 168849 chr19 23328224 23328224 C T rs77177514 ZNF730 Synonymous SNV H126H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.313 168850 chr19 49391315 49391315 C A rs34903808 TULP2 Synonymous SNV A280A 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 17.3 168851 chr7 149503891 149503891 C T rs751664053 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 8.561 168852 chr19 49700132 49700132 G A TRPM4 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 25.6 168853 chr19 48386958 48386958 C T rs763687131 SULT2A1 Nonsynonymous SNV R74Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 168854 chr19 50249950 50249950 - CTGCTTCTCCTCCGGCTC TSKS Q262_K263insEPEEKQ 0.001 0 0 0 1 0 0 0 0 0 0 0 168855 chr19 50310436 50310436 G A rs751860663 FUZ Nonsynonymous SNV T374I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 168856 chr19 48876809 48876809 C G rs201049628 SYNGR4 Synonymous SNV T43T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 168857 chr16 2282224 2282224 C T rs375178489 E4F1 Synonymous SNV D156D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.42 168858 chr16 23080238 23080238 G C rs752929213 USP31 Nonsynonymous SNV P1063R 0 0.008 0 0 0 3 0 0 0 0 0 0 22 168859 chr16 23080922 23080922 C T rs995959438 USP31 Nonsynonymous SNV R835Q 0 0.008 0 0 0 3 0 0 0 0 0 0 25.8 168860 chr8 3266953 3266953 C T CSMD1 Nonsynonymous SNV S579N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 168861 chr19 36018558 36018611 CCCTGGCCAAATCTCCCAGCCTCATTTCCGGCCTGCCCTGCAGCATGGTGGACT - SBSN V192_G209del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 168862 chr19 36019007 36019007 C G rs371131169 SBSN Synonymous SNV T59T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 168863 chr8 6914204 6914204 T C rs140785130 DEFA5 Nonsynonymous SNV I6V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.101 168864 chr18 5416217 5416217 A G rs745397874 EPB41L3 Nonsynonymous SNV L556S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.003 168865 chr19 36530403 36530403 G C THAP8 Nonsynonymous SNV P165R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.112 168866 chr19 52131256 52131256 - G rs149243374 SIGLEC5 Frameshift insertion A277Cfs*71 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 168867 chr17 77709406 77709406 G A rs145186981 ENPP7 Nonsynonymous SNV A322T 0.003 0 0 5 3 0 0.013 0 0 0 0 0 22.8 168868 chr19 52272072 52272072 G A rs192933693 FPR2 Nonsynonymous SNV R54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 168869 chr19 3728604 3728604 C A rs770869556 TJP3 Nonsynonymous SNV D17E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 168870 chr18 56246998 56246998 G A rs202105506 ALPK2 Nonsynonymous SNV T337M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 168871 chr16 335526 335526 C T rs201390978 PDIA2 Synonymous SNV D314D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.499 168872 chr19 39663568 39663568 G A rs372186735 PAK4 Nonsynonymous SNV R72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 168873 chr17 80439034 80439034 G A NARF Nonsynonymous SNV S191N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 168874 chr11 55432879 55432879 G T rs374423998 OR4C6 Synonymous SNV V79V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.959 168875 chr19 52658231 52658231 C T rs61744685 ZNF836 Nonsynonymous SNV R902H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7 168876 chr16 5055946 5055946 G A rs375082771 SEC14L5 Nonsynonymous SNV R445Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.13 168877 chr11 56000073 56000073 T C rs372087747 OR5T2 Nonsynonymous SNV I197V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 168878 chr18 77895856 77895856 C G rs763016663 ADNP2 Nonsynonymous SNV P854A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 168879 chr17 9705871 9705871 C T rs143564987 GSG1L2 Synonymous SNV K238K 0.008 0.013 0.003 1 9 5 0.003 1 0 0 0 0 6.69 168880 chr18 9119343 9119351 ATAACCCTG - rs763882642 NDUFV2 N48_D50del 0.002 0 0 0 2 0 0 0 0 0 0 0 168881 chr19 52001321 52001321 T C SIGLEC12 Synonymous SNV L334L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.949 168882 chr8 28196690 28196690 C T rs753670435 PNOC Nonsynonymous SNV P23L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 168883 chr19 53793162 53793162 C T rs35880972 BIRC8 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.85 168884 chr15 68603631 68603631 G A rs61729773 ITGA11 Synonymous SNV D1028D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.028 168885 chr8 37554773 37554773 C A rs770307176 ZNF703 Nonsynonymous SNV N118K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 168886 chr16 67709352 67709352 G A rs140756831 GFOD2 Synonymous SNV G288G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.142 168887 chr8 41791795 41791795 C T rs750484795 KAT6A Nonsynonymous SNV D1315N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 168888 chr8 59536329 59536329 T C NSMAF Nonsynonymous SNV E163G 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 21.9 168889 chr19 55831488 55831488 G A rs766895006 TMEM150B Synonymous SNV G81G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.46 168890 chr16 709105 709105 G C rs368701693 WDR90 Nonsynonymous SNV A1011P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 168891 chr19 56934360 56934360 T C rs115643050 ZNF583 Synonymous SNV Y111Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.007 168892 chr19 55995602 55995602 G C rs201209790 ZNF628 Synonymous SNV G1014G 0.006 0 0.007 0 7 0 0 2 0 0 0 0 0.019 168893 chr19 55998317 55998317 C T rs118182626 NAT14 Synonymous SNV D205D 0.005 0 0.003 0 6 0 0 1 0 0 0 0 14.48 168894 chr8 74722808 74722808 A G UBE2W Synonymous SNV H89H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.39 168895 chr16 71689302 71689302 G C rs977827430 PHLPP2 Nonsynonymous SNV A742G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.29 168896 chr18 48190378 48190378 G A rs34207571 MAPK4 Nonsynonymous SNV G17D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 168897 chr19 46216557 46216557 G C rs763476298 FBXO46 Nonsynonymous SNV A66G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.35 168898 chr19 57065254 57065254 C T rs146055435 ZFP28 Nonsynonymous SNV T367I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 168899 chr19 15760737 15760737 A G rs904417237 CYP4F3 Nonsynonymous SNV Y221C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 168900 chr18 56278945 56278945 C T ALPK2 Nonsynonymous SNV A29T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 13.68 168901 chr11 60718799 60718799 G A SLC15A3 Synonymous SNV A75A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 18.15 168902 chr19 16980294 16980294 C T SIN3B Synonymous SNV G200G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.31 168903 chr11 62286165 62286165 C G rs116243978 AHNAK Nonsynonymous SNV G5242R 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 Benign 26.1 168904 chr18 67817261 67817261 T C rs199840279 RTTN Synonymous SNV A706A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.29 168905 chr16 105779 105779 G A rs200095997 SNRNP25 Nonsynonymous SNV V46M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 168906 chr16 1269032 1269032 G A rs761696834 CACNA1H Nonsynonymous SNV A1978T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.221 168907 chr8 144993557 144993557 C T rs375766567 PLEC Nonsynonymous SNV V3464M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.9 168908 chr8 142228758 142228758 C T SLC45A4 Synonymous SNV L276L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 168909 chr16 1500600 1500600 G A rs566739148 CLCN7 Synonymous SNV Y481Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.024 168910 chr19 7708097 7708097 A G rs757736045 STXBP2 Nonsynonymous SNV K355R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 168911 chr11 65373505 65373505 G A rs574384864 MAP3K11 Nonsynonymous SNV R551C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 168912 chr19 7676421 7676421 C T rs755140419 CAMSAP3 Nonsynonymous SNV P381L 0.005 0.003 0 3 6 1 0.008 0 2 0 0 0 24.2 168913 chr11 65630970 65630970 G C rs143145862 MUS81 Nonsynonymous SNV R279P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.2 168914 chr19 52217060 52217060 G A rs150680444 HAS1 Nonsynonymous SNV R452W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 168915 chr11 66114596 66114596 C G rs917587439 B4GAT1 Nonsynonymous SNV A141P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.8 168916 chr11 66392825 66392825 C T rs139642034 RBM14 Nonsynonymous SNV A493V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 17.55 168917 chr19 11515835 11515835 C T rs775854940 RGL3 Synonymous SNV E391E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.94 168918 chr8 17573373 17573373 A G MTUS1 Synonymous SNV P76P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 168919 chr17 1382733 1382733 C T rs149724773 MYO1C Nonsynonymous SNV G362R 0 0.008 0 0 0 3 0 0 0 0 0 0 24.4 168920 chr19 1271194 1271194 C T CIRBP Synonymous SNV T53T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.998 168921 chr19 13255295 13255295 G A rs575830924 STX10 Stop gain R178X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 168922 chr8 145113792 145113792 C G OPLAH Synonymous SNV T157T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.575 168923 chr17 16256487 16256487 T C rs768145241 CENPV Synonymous SNV P88P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 168924 chr16 2110765 2110765 C T rs150195368 TSC2 Nonsynonymous SNV A157V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 168925 chr8 21996020 21996020 - CACAGACGTGGA rs775236218 REEP4 C199_A200insVHVC 0 0 0.003 0 0 0 0 1 0 0 0 0 168926 chr11 75141320 75141320 C A KLHL35 Nonsynonymous SNV A119S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.93 168927 chr17 18155332 18155332 G A rs372864870 FLII Synonymous SNV T355T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.529 168928 chr8 146015324 146015324 A C RPL8 Synonymous SNV G213G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.762 168929 chr19 9075200 9075200 A G rs765626940 MUC16 Synonymous SNV F4082F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 168930 chr16 2578291 2578291 G A rs755025326 AMDHD2 Nonsynonymous SNV A258T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.25 168931 chr1 109482747 109482747 A G CLCC1 Nonsynonymous SNV W151R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 28 168932 chr19 36293166 36293166 C A rs137987475 PRODH2 Synonymous SNV L451L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.15 168933 chr19 17305607 17305607 A G rs35458733 MYO9B Nonsynonymous SNV E1124G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.24 168934 chr8 3141844 3141844 C T rs377759075 CSMD1 Synonymous SNV T1325T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.45 168935 chr9 6986547 6986547 A G KDM4C Nonsynonymous SNV S339G 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 10.39 168936 chr1 110607217 110607217 G A rs121908170 ALX3 Nonsynonymous SNV R196W 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 32 168937 chr11 86126321 86126321 - G rs753502242 CCDC81 Frameshift insertion D464Gfs*19 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 168938 chr9 14307034 14307034 T G rs746058873 NFIB Synonymous SNV S172S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.288 168939 chr19 17370141 17370141 G C rs562060158 USHBP1 Nonsynonymous SNV R271G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 168940 chr16 31095909 31095909 G A PRSS53 Synonymous SNV T465T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.736 168941 chr17 2237011 2237011 C G rs762336432 TSR1 0 0.008 0 0 0 3 0 0 0 0 0 0 26.8 168942 chr16 31447414 31447414 C A ZNF843 Nonsynonymous SNV V253F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.3 168943 chr17 26816266 26816266 C T rs148941136 SLC13A2 Nonsynonymous SNV A46V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 168944 chr19 38377225 38377225 G A rs548162056 WDR87 Synonymous SNV D2362D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.158 168945 chr8 52320992 52320992 A C rs377367036 PXDNL Synonymous SNV L1064L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 168946 chr11 94760049 94760049 G A rs374081859 KDM4E Nonsynonymous SNV R443H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.81 168947 chr17 27308567 27308567 T C rs375240552 SEZ6 Synonymous SNV T182T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.473 168948 chr9 22451665 22451665 A G rs201271233 DMRTA1 Nonsynonymous SNV S424G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.006 168949 chr19 17838145 17838174 GCGAGCGGCTGTCGCTGAGCCCACTGCGGG - MAP1S E626_G635del 0.001 0 0 0 1 0 0 0 0 0 0 0 168950 chr8 61764601 61764601 G A rs766110936 CHD7 Nonsynonymous SNV E1897K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 168951 chr9 33927053 33927053 C T rs10971798 UBAP2 Synonymous SNV Q38Q 0.014 0.005 0.014 5 16 2 0.013 4 0 0 0 0 9.506 168952 chr8 6302377 6302377 G C MCPH1 Nonsynonymous SNV R330S 0 0 0.003 0 0 0 0 1 0 0 0 0 20 168953 chr9 34637689 34637689 C T rs541251697 SIGMAR1 Synonymous SNV Q2Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.95 168954 chr8 65493835 65493835 G A rs759136594 BHLHE22 Nonsynonymous SNV G163E 0.002 0 0.007 0 2 0 0 2 1 0 0 0 22.7 168955 chr8 70541874 70541874 G A rs781022709 SULF1 Synonymous SNV T748T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 168956 chr19 5729943 5729943 T A rs113853836 CATSPERD Synonymous SNV P88P 0.002 0 0.017 1 2 0 0.003 5 0 0 0 0 2.868 168957 chr11 116631487 116631487 C T rs758736430 BUD13 Synonymous SNV L272L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.73 168958 chr19 58490695 58490695 A T rs61690352 ZNF606 Synonymous SNV T361T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.024 168959 chr19 58491502 58491502 T C rs73569702 ZNF606 Synonymous SNV Q92Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.017 168960 chr19 58846313 58846313 C T rs780792576 ZSCAN22 Nonsynonymous SNV R49C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 168961 chr17 36966807 36966821 CTTCTTTTTCTTCTT - rs751273167 CWC25 K176_K180del 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 168962 chr19 5914480 5914480 G A rs748390495 CAPS Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 168963 chr16 57467976 57467976 G C CIAPIN1 Nonsynonymous SNV T166S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.368 168964 chr17 3776713 3776713 A G rs753548837 CAMKK1 Nonsynonymous SNV V347A 0 0.008 0 0 0 3 0 0 0 0 0 0 23.1 168965 chr11 118765081 118765081 C T rs2230320 CXCR5 Synonymous SNV H231H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.899 168966 chr11 118925953 118925953 C T rs11822958 HYOU1 Synonymous SNV P121P 0.004 0.01 0.007 4 5 4 0.01 2 0 0 0 0 13.82 168967 chr1 120307079 120307079 C T rs144921290 HMGCS2 Nonsynonymous SNV R92H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.415 168968 chr19 2989552 2989552 G A rs763793074 TLE6 Nonsynonymous SNV R215H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 168969 chr11 119064529 119064529 C T rs201220955 CCDC153 Nonsynonymous SNV G68E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 168970 chr11 119216555 119216555 T C rs4639950 MFRP Nonsynonymous SNV I119V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.003 168971 chr19 3192567 3192567 A C rs777557939 NCLN Nonsynonymous SNV E95A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 168972 chr1 1268652 1268652 G A rs370629720 TAS1R3 Nonsynonymous SNV R498Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.478 168973 chr11 119549168 119549168 G A rs770372133 NECTIN1 Synonymous SNV F129F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.27 168974 chr11 120082146 120082146 C T rs148100634 OAF Synonymous SNV D53D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.35 168975 chr16 629073 629073 T C PIGQ Nonsynonymous SNV Y410H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 168976 chr11 120180149 120180149 T G rs534104929 POU2F3 Nonsynonymous SNV S310A 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 168977 chr16 66424323 66424323 G A rs144855545 CDH5 Nonsynonymous SNV V267M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.2 168978 chr1 14105044 14105044 C T rs534954594 PRDM2 Nonsynonymous SNV P51S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 168979 chr9 111617477 111617477 G C rs764794350 ACTL7B Nonsynonymous SNV T245R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 168980 chr11 122954491 122954491 C T rs112659755 CLMP Synonymous SNV L151L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 15.92 168981 chr1 153742293 153742293 C T INTS3 Stop gain R788X 0.001 0 0 0 1 0 0 0 0 0 0 0 47 168982 chr11 123900402 123900402 C A rs147950397 OR10G8 Nonsynonymous SNV L25I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 168983 chr9 115760450 115760450 C A rs199852187 ZNF883 Nonsynonymous SNV Q30H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.628 168984 chr16 68389693 68389693 G A rs61745807 PRMT7 Nonsynonymous SNV S523N 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Benign/Likely benign 24 168985 chr16 69748924 69748927 CACT - rs200863930 NQO1 V120Sfs*2 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 168986 chr16 69748928 69748928 C G rs11555215 NQO1 Nonsynonymous SNV R119P 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 35 168987 chr16 69760341 69760341 A G rs114238154 NQO1 Star tloss M1? 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 21.6 168988 chr16 69788771 69788771 G A rs145036586 NOB1 Synonymous SNV L15L 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 13.9 168989 chr9 116811394 116811394 G A rs16912115 ZNF618 Synonymous SNV S571S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.197 168990 chr9 116859629 116859629 C A rs76057724 KIF12 Nonsynonymous SNV V62L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 168991 chr17 39525806 39525806 C T rs148092885 KRT33B Nonsynonymous SNV R66H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 168992 chr16 70515334 70515334 C T rs150547677 COG4 Synonymous SNV T696T 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 18.24 168993 chr11 124310499 124310499 C T rs74383090 OR8B8 Synonymous SNV A161A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.2 168994 chr9 117027755 117027755 G A rs140849642 COL27A1 Synonymous SNV P1131P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 15.5 168995 chr11 124412730 124412730 G A rs61745407 OR8B12 Nonsynonymous SNV S274F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.5 168996 chr9 117108971 117108971 C T rs902492 AKNA Synonymous SNV R1045R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 20.2 168997 chr9 117110112 117110112 T C rs1265891 AKNA Nonsynonymous SNV Q978R 0.003 0.005 0.02 2 4 2 0.005 6 0 0 0 0 0.01 168998 chr9 117110180 117110180 G A rs10982174 AKNA Synonymous SNV D955D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 10.89 168999 chr9 117165211 117165211 G A rs751201674 WHRN Synonymous SNV G498G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 169000 chr16 720471 720471 C T rs763786580 RHOT2 Synonymous SNV L134L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.04 169001 chr16 72057492 72057492 G A rs778495792 DHODH Nonsynonymous SNV V365I 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 4.101 169002 chr1 152329974 152329974 A C rs147641330 FLG2 Synonymous SNV A96A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.579 169003 chr1 153085068 153085068 G C SPRR2F Nonsynonymous SNV Q48E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.453 169004 chr1 153279576 153279576 C T rs114450863 PGLYRP3 Nonsynonymous SNV V75I 0.007 0.003 0.003 2 8 1 0.005 1 0 0 0 0 3.993 169005 chr19 46842781 46842781 G C HIF3A 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 169006 chr11 128840221 128840221 T C rs146744767 ARHGAP32 Synonymous SNV R1266R 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.111 169007 chr19 46915434 46915434 C T rs778774357 CCDC8 Nonsynonymous SNV G212S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 169008 chr9 125377645 125377645 C A rs748149806 OR1Q1 Nonsynonymous SNV A210D 0 0 0.01 0 0 0 0 3 0 0 0 0 26.5 169009 chr19 37240440 37240440 C A rs575499911 ZNF850 Nonsynonymous SNV G469V 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 169010 chr1 154934248 154934248 C G LOC101928120 Nonsynonymous SNV Q54E 0.003 0 0 0 3 0 0 0 0 0 0 0 12.2 169011 chr11 134129550 134129550 C T rs369445365 ACAD8 Stop gain R206X 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 41 169012 chr12 569586 569586 C G rs759949676 B4GALNT3 Nonsynonymous SNV P15R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.5 169013 chr17 41246744 41246744 G A rs771076131 BRCA1 Synonymous SNV N221N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 8.837 169014 chr1 156449539 156449539 G C MEF2D Nonsynonymous SNV S149C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.9 169015 chr19 38976659 38976659 T G rs200950362 RYR1 Synonymous SNV A1788A 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.724 169016 chr9 117792684 117792684 A G rs199535241 TNC Nonsynonymous SNV I1974T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 169017 chr19 49102448 49102448 C T rs920026531 SULT2B1 Nonsynonymous SNV R280C 0.003 0 0 0 3 0 0 0 0 0 0 0 21.8 169018 chr12 2983339 2983339 C T rs749932902 FOXM1 Synonymous SNV G102G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.5 169019 chr9 119567935 119567935 C T rs79404103 ASTN2 Nonsynonymous SNV G740D 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 24.6 169020 chr12 4873162 4873162 C T rs56282812 GALNT8 Synonymous SNV P514P 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Benign 12.28 169021 chr12 4881680 4881680 G A rs34114277 GALNT8 Nonsynonymous SNV V611M 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 Benign 4.989 169022 chr9 132375739 132375739 A G rs41276772 C9orf50 Nonsynonymous SNV S340P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 15.1 169023 chr19 40316594 40316594 G A DYRK1B Nonsynonymous SNV R551C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 169024 chr1 15694028 15694028 A G FHAD1 Nonsynonymous SNV E1053G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 169025 chr12 6436677 6436677 G A rs770706603 PLEKHG6 Nonsynonymous SNV R611H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 34 169026 chr19 49840207 49840207 G A rs138165790 CD37 Nonsynonymous SNV A62T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.12 169027 chr9 125377540 125377540 C T rs55957445 OR1Q1 Nonsynonymous SNV P175L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.7 169028 chr9 135771922 135771922 C T rs118203746 TSC1 Synonymous SNV T1014T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.64 169029 chr1 100155194 100155194 A C rs565037478 PALMD Nonsynonymous SNV K460Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 169030 chr1 100459108 100459108 A G rs201065812 SLC35A3 Nonsynonymous SNV T42A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.59 169031 chr19 50548995 50548995 A C rs762380841 ZNF473 Nonsynonymous SNV K420T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 169032 chr19 4283068 4283068 G A rs138591689 SHD Nonsynonymous SNV V141M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.59 169033 chr1 171301882 171301882 T A rs61747501 FMO4 Nonsynonymous SNV L221H 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Likely benign 11.82 169034 chr9 137808267 137808267 G A rs138533119 FCN1 Synonymous SNV T48T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 169035 chr9 138012013 138012013 G A rs145931591 OLFM1 Nonsynonymous SNV D483N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 169036 chr19 44352035 44352035 G A rs755948575 ZNF283 Nonsynonymous SNV E289K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.6 169037 chr17 49338149 49338149 A G UTP18 Synonymous SNV E68E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.866 169038 chr19 51892393 51892393 G A rs765349126 C19orf84 Nonsynonymous SNV R136W 0.002 0 0 0 2 0 0 0 0 0 0 0 7.408 169039 chr9 139221574 139221574 G A rs117676783 DKFZP434A062 0 0 0.02 0 0 0 0 6 0 0 1 0 4.274 169040 chr1 109969041 109969041 C A rs563308131 PSMA5 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 169041 chr16 90109822 90109822 A G URAHP 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.589 169042 chr9 132510963 132510963 C T rs142287855 PTGES Synonymous SNV R60R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 7.26 169043 chr17 10350469 10350469 A T MYH4 Nonsynonymous SNV M1677K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21 169044 chr9 139836702 139836702 C T rs888941757 FBXW5 Nonsynonymous SNV A298T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.542 169045 chr19 52496194 52496194 T C ZNF615 Nonsynonymous SNV D717G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 169046 chr1 1149376 1149376 G A rs375760850 TNFRSF4 Synonymous SNV H44H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.066 169047 chr17 59885949 59885949 G A rs550031006 BRIP1 Nonsynonymous SNV T266M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 27.3 169048 chr1 18152414 18152414 C T rs114899155 ACTL8 Synonymous SNV P167P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.95 169049 chr1 17295660 17295660 G A rs758641463 CROCC Nonsynonymous SNV R1709Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 169050 chr17 61766211 61766211 G A rs36109904 MAP3K3 Nonsynonymous SNV V277M 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Benign 26.2 169051 chr12 21692262 21692262 T C rs886049155 GYS2 Nonsynonymous SNV H607R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.8 169052 chr9 18928675 18928675 G T SAXO1 Nonsynonymous SNV P202H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 169053 chr12 26383695 26383695 G A rs201200828 SSPN Nonsynonymous SNV V37M 0 0 0 2 0 0 0.005 0 0 0 0 0 24 169054 chr9 136301999 136301999 C T rs148365271 ADAMTS13 Synonymous SNV T453T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.288 169055 chr19 45655601 45655601 G A rs75611788 NKPD1 Synonymous SNV S698S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 6.323 169056 chr19 45774858 45774858 G A rs34784381 MARK4 Synonymous SNV L226L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 Benign 10.85 169057 chr19 45912070 45912070 A G rs3212989 CD3EAP Nonsynonymous SNV T284A 0.001 0.003 0 4 1 1 0.01 0 0 0 0 1 Conflicting interpretations of pathogenicity 0.001 169058 chr9 138661872 138661872 C T KCNT1 Synonymous SNV I485I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 169059 chr1 12335894 12335894 G A VPS13D Nonsynonymous SNV R750K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.024 169060 chr9 34249828 34249828 C A UBAP1 Nonsynonymous SNV P443T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 169061 chr9 35093126 35093126 G A rs777808521 PIGO Synonymous SNV I340I 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.318 169062 chr19 47569772 47569772 G A rs769161663 ZC3H4 Synonymous SNV P1251P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.146 169063 chr12 44913895 44913895 T C rs924980276 NELL2 Nonsynonymous SNV I765V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.64 169064 chr17 70118890 70118890 C T SOX9 Synonymous SNV F154F 0 0.003 0 0 0 1 0 0 0 0 0 0 22 169065 chr9 6328871 6328871 G A rs2295843 TPD52L3 Synonymous SNV Q92Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.824 169066 chr12 49251876 49251876 C T rs200101480 RND1 Nonsynonymous SNV R201Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 26.4 169067 chr9 140437124 140437124 G A rs138277506 PNPLA7 Synonymous SNV D187D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.98 169068 chr1 149916276 149916276 G T rs202163044 OTUD7B Nonsynonymous SNV A671D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.476 169069 chr1 183194744 183194744 T C rs200174773 LAMC2 Synonymous SNV L319L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.62 169070 chr9 140672358 140672358 - GAC EHMT1 D652_K653insD 0.001 0 0 0 1 0 0 0 0 0 0 0 169071 chr1 150722511 150722511 C T rs138263900 CTSS Nonsynonymous SNV R205H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.22 169072 chr1 150730356 150730356 C T rs867090605 CTSS Nonsynonymous SNV G76D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.7 169073 chr1 150938960 150938960 T G rs991304680 CERS2 Nonsynonymous SNV T332P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 169074 chr17 27074239 27074239 T A rs774259497 TRAF4 Nonsynonymous SNV V51D 0 0 0 2 0 0 0.005 0 0 0 0 0 32 169075 chr1 150938962 150938962 A G rs746824537 CERS2 Nonsynonymous SNV I331T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 169076 chr17 27074240 27074240 C A rs761858120 TRAF4 Synonymous SNV V51V 0 0 0 2 0 0 0.005 0 0 0 0 0 17.7 169077 chr19 49116307 49116307 G A rs200190654 FAM83E Nonsynonymous SNV P108L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.4 169078 chr19 49165092 49165092 C T rs775613587 NTN5 Nonsynonymous SNV D438N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.621 169079 chr17 28268857 28268857 G A rs201197242 EFCAB5 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 not provided 23.4 169080 chr1 152081866 152081866 T G TCHH Nonsynonymous SNV E1276A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.006 169081 chr1 203155739 203155739 C T rs201120110 CHI3L1 Nonsynonymous SNV A5T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 14.36 169082 chr1 203452807 203452807 C A rs763281902 PRELP Synonymous SNV V165V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 169083 chr1 204380384 204380384 G A rs147611819 PPP1R15B Synonymous SNV S52S 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.918 169084 chr1 205027723 205027723 G A rs768629152 CNTN2 Nonsynonymous SNV R140Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 169085 chr1 20005620 20005620 G A rs777968792 HTR6 Nonsynonymous SNV R361Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.9 169086 chr1 200378565 200378565 G T rs531654724 ZNF281 Nonsynonymous SNV P90H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 169087 chr9 96859692 96859692 A T rs143093313 PTPDC1 Nonsynonymous SNV I282L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 169088 chr12 53608371 53608371 G A rs745345035 RARG Synonymous SNV N143N 0 0 0 2 0 0 0.005 0 0 0 0 0 7.378 169089 chr1 207195603 207195603 G A rs538356265 C1orf116 Synonymous SNV S256S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.496 169090 chr1 155239392 155239392 G A CLK2 Nonsynonymous SNV R96W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 169091 chrX 103494925 103494925 G A rs782512903 ESX1 Nonsynonymous SNV A402V 0 0 0.007 0 0 0 0 2 0 0 1 0 10.07 169092 chrX 104440309 104440309 A G IL1RAPL2 Nonsynonymous SNV N79D 0 0 0.007 0 0 0 0 2 0 0 1 0 23.2 169093 chrX 106061924 106061924 G A rs6523896 TBC1D8B Synonymous SNV L54L 0 0 0.014 0 0 0 0 4 0 0 2 0 10.31 169094 chrX 106082584 106082584 T G rs111863866 TBC1D8B Nonsynonymous SNV V417G 0 0 0.007 0 0 0 0 2 0 0 1 0 0.001 169095 chrX 106097460 106097460 T C rs7886676 TBC1D8B Synonymous SNV H762H 0 0 0.014 0 0 0 0 4 0 0 2 0 0.014 169096 chrX 114426404 114426404 C T rs371644998 RBMXL3 Synonymous SNV S800S 0 0 0.007 0 0 0 0 2 0 0 1 0 10.89 169097 chr1 203467948 203467948 C T rs145974285 OPTC Synonymous SNV A170A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.59 169098 chrX 124455511 124455511 C T rs3135231 TEX13C Synonymous SNV L515L 0 0 0.007 0 0 0 0 2 0 0 1 0 2.148 169099 chr1 156783723 156783723 G A rs770490543 SH2D2A Nonsynonymous SNV R134W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 169100 chr12 56630216 56630216 C T rs150662274 SLC39A5 Nonsynonymous SNV R328C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 169101 chr1 157660090 157660090 C T FCRL3 Nonsynonymous SNV G549S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 169102 chr1 205273364 205273364 G A rs772963609 NUAK2 Synonymous SNV G367G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.903 169103 chr1 205884282 205884282 T G rs200314801 SLC26A9 Nonsynonymous SNV Y801S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.009 169104 chr12 57588351 57588351 G A rs371135526 MIR1228 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 9.526 169105 chr12 57589064 57589064 G A rs146392489 LRP1 Synonymous SNV T2773T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 16.43 169106 chr1 158913582 158913582 A G rs148854814 PYHIN1 Synonymous SNV K335K 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 6.103 169107 chr1 21585219 21585219 G T rs763305486 ECE1 Synonymous SNV A231A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 169108 chrX 153149170 153149170 G C rs142085600 LCA10 0 0 0.054 0 0 0 0 16 0 0 6 0 0.151 169109 chr1 209933660 209933660 G C rs2076151 TRAF3IP3 Synonymous SNV R92R 0.004 0 0 0 5 0 0 0 0 0 0 0 0.158 169110 chr17 39503416 39503416 G A rs776396301 KRT33A Nonsynonymous SNV A216V 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 169111 chr17 39506782 39506782 C G rs148752041 KRT33A Nonsynonymous SNV D80H 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 169112 chr12 58201505 58201505 C G rs150785031 AVIL Nonsynonymous SNV W400C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 169113 chr1 220324694 220324694 C T rs974093768 RAB3GAP2 Nonsynonymous SNV V1361I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 169114 chr12 62786103 62786103 G T USP15 Nonsynonymous SNV V537L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.08 169115 chr1 161823095 161823095 G A ATF6 Synonymous SNV Q505Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 169116 chr1 216390841 216390841 G C rs541918040 USH2A Nonsynonymous SNV H1015Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 24.6 169117 chr10 50154948 50154948 G A WDFY4 Synonymous SNV S2637S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 169118 chr1 16255086 16255086 G A rs181758065 SPEN Nonsynonymous SNV R784H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 169119 chr17 79827761 79827761 C T rs755519466 ARHGDIA Nonsynonymous SNV A16T 0 0.005 0 0 0 2 0 0 0 0 0 0 21.7 169120 chr17 40148416 40148416 G A rs373529196 DNAJC7 Synonymous SNV H50H 0 0 0 2 0 0 0.005 0 0 0 0 0 10.96 169121 chr12 76740323 76740323 T C rs779567118 BBS10 Nonsynonymous SNV E481G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.897 169122 chr17 80010136 80010136 C T rs751388258 GPS1 Nonsynonymous SNV P13L 0 0.005 0 0 0 2 0 0 0 0 0 0 19.06 169123 chrX 65423236 65423236 G A rs143121749 HEPH Nonsynonymous SNV S514N 0.003 0 0.01 2 3 0 0.005 3 1 0 1 0 Likely benign 10.62 169124 chr1 165649851 165649851 C G rs1065756 ALDH9A1 Nonsynonymous SNV S221T 0.004 0 0.01 0 5 0 0 3 0 0 0 0 0.938 169125 chr1 16785378 16785378 A T rs144337817 NECAP2 Nonsynonymous SNV S237C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 169126 chrX 99941713 99941713 C T rs142643452 SYTL4 Nonsynonymous SNV R417Q 0 0 0.007 0 0 0 0 2 0 0 1 0 23 169127 chr12 93196334 93196334 G A EEA1 Nonsynonymous SNV T839I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 169128 chr19 55953698 55953698 C G SHISA7 Nonsynonymous SNV G178A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.808 169129 chr10 104572493 104572493 C T rs757152067 WBP1L Nonsynonymous SNV P166L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 169130 chr12 99129388 99129388 C T rs368892228 ANKS1B Nonsynonymous SNV G164R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.44 169131 chr10 105194555 105194555 G A rs780914624 PDCD11 Nonsynonymous SNV G1223D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 169132 chr1 17318817 17318817 C T rs200916673 ATP13A2 Synonymous SNV A637A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.72 169133 chr1 225552574 225552574 C T rs533472746 DNAH14 Nonsynonymous SNV P4023L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.7 169134 chr10 105813860 105813860 A G rs200370596 COL17A1 Synonymous SNV P587P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.16 169135 chr10 106125668 106125668 A G rs780852591 CFAP58 Nonsynonymous SNV M232V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.484 169136 chr12 108912631 108912631 C T rs759715090 FICD Synonymous SNV A252A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.26 169137 chr10 81917486 81917486 T C rs1802932 ANXA11 Nonsynonymous SNV I457V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 17.77 169138 chr1 178855146 178855146 G A rs536678357 RALGPS2 Synonymous SNV T361T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.44 169139 chr19 57335741 57335741 G A PEG3 Synonymous SNV L95L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.071 169140 chr1 227935529 227935529 C T rs151133242 SNAP47 Nonsynonymous SNV S31L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.396 169141 chr1 110301223 110301223 G A rs201848819 EPS8L3 Nonsynonymous SNV P142L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 169142 chr10 123985946 123985946 T C rs142125896 TACC2 Synonymous SNV P636P 0.001 0.008 0.007 1 1 3 0.003 2 0 0 0 0 0.799 169143 chr10 124380664 124380664 C T rs190400260 DMBT1 Synonymous SNV T1035T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 169144 chr18 45555893 45555893 T C rs950831933 ZBTB7C Nonsynonymous SNV H533R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.8 169145 chr12 120569821 120569821 G A GCN1 Synonymous SNV N2441N 0 0 0 2 0 0 0.005 0 0 0 0 0 11.84 169146 chr19 6177298 6177298 C T rs766945945 ACSBG2 Nonsynonymous SNV T266M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 169147 chr1 1887286 1887286 T C rs571138811 CFAP74 Nonsynonymous SNV S674G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.734 169148 chr10 125780787 125780787 G A rs754189595 CHST15 Synonymous SNV L444L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 169149 chr12 121432115 121432115 G T rs539507291 HNF1A Nonsynonymous SNV G288W 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 28 169150 chr1 247614573 247614573 G A rs145019591 OR2B11 Stop gain R238X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 169151 chr10 128821486 128821486 T C rs7087206 DOCK1 Synonymous SNV Y450Y 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 0.458 169152 chr10 99644046 99644046 C T rs187123855 CRTAC1 Nonsynonymous SNV V517M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 169153 chr10 103901305 103901305 C T rs778796438 PPRC1 Nonsynonymous SNV P1014S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 169154 chr10 104235563 104235563 A G MFSD13A Nonsynonymous SNV Q459R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.084 169155 chr12 124819687 124819687 G A rs138855129 NCOR2 Synonymous SNV H2125H 0 0 0 2 0 0 0.005 0 0 0 0 0 7.847 169156 chr1 24388564 24388564 G A rs201982671 MYOM3 Nonsynonymous SNV T1269M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.54 169157 chr1 120311466 120311466 A G rs758462859 HMGCS2 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 169158 chr10 135086899 135086899 A - ADAM8 D105Efs*87 0 0 0.003 0 0 0 0 1 0 0 0 0 169159 chr10 14939028 14939028 C T SUV39H2 Nonsynonymous SNV P61S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.62 169160 chr10 115485612 115485612 C T rs185649982 CASP7 Nonsynonymous SNV R161W 0.009 0.003 0.003 7 11 1 0.018 1 0 0 0 1 0.781 169161 chr10 115609567 115609567 G A DCLRE1A Nonsynonymous SNV P433S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 169162 chr10 18828191 18828191 C T rs143060134 CACNB2 Synonymous SNV S452S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 19.76 169163 chr18 74153885 74153885 - CCCCTCCGC rs751063425 ZNF516 G375_P376insAEG 0 0.003 0 0 0 1 0 0 0 0 0 0 169164 chr10 19546696 19546696 C T MALRD1 Synonymous SNV Y1025Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.424 169165 chr10 22726420 22726420 C T rs142913720 LOC100499489 0 0 0.037 0 0 0 0 11 0 0 0 0 9.172 169166 chr17 72346662 72346662 C T rs139600640 KIF19 Nonsynonymous SNV R446C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 17.91 169167 chr13 20235877 20235877 G A rs201521390 MPHOSPH8 Nonsynonymous SNV G611R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.1 169168 chr18 8069917 8069917 A G PTPRM Nonsynonymous SNV S456G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.51 169169 chr13 21553869 21553869 C T rs774676269 LATS2 Synonymous SNV P911P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.61 169170 chr10 120921893 120921893 T C rs1012970819 SFXN4 Nonsynonymous SNV T71A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.477 169171 chr10 27324372 27324372 C T rs41304587 ANKRD26 Nonsynonymous SNV E1002K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.5 169172 chr1 27124177 27124177 G T rs201804133 PIGV Nonsynonymous SNV D442Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.99 169173 chr19 9062898 9062898 A G rs748053140 MUC16 Nonsynonymous SNV I8183T 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 0.024 169174 chr1 28203226 28203226 C T rs770810910 THEMIS2 Synonymous SNV A74A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.848 169175 chr1 248366594 248366594 C T rs147274825 OR2M3 Synonymous SNV C75C 0.002 0 0 0 2 0 0 0 0 0 0 0 6.665 169176 chr1 207110645 207110645 G A rs147958203 PIGR Synonymous SNV D280D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.309 169177 chr17 73498622 73498622 C T rs530176551 CASKIN2 Nonsynonymous SNV V763M 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 0.003 169178 chr10 124596461 124596461 - G rs763423390 CUZD1 Frameshift insertion T235Hfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 169179 chr13 25458349 25458349 G T rs149855336 CENPJ Nonsynonymous SNV T1218K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 169180 chr10 3189261 3189261 G T PITRM1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.524 169181 chr17 73723317 73723317 G A ITGB4 Nonsynonymous SNV C41Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.9 169182 chr1 20975168 20975168 C G rs71653623 PINK1-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 1.769 169183 chr13 29933421 29933421 G A rs377437375 MTUS2 Synonymous SNV A976A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.74 169184 chr1 100327088 100327088 A G rs35278779 AGL Nonsynonymous SNV T38A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Benign/Likely benign 19.82 169185 chr17 73996435 73996435 G C rs17881655 TEN1-CDK3 0 0 0.007 1 0 0 0.003 2 0 0 0 0 2.68 169186 chr1 100356848 100356848 C G rs34714252 AGL Nonsynonymous SNV S962C 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Benign 21 169187 chr1 100588034 100588034 T C rs577740475 SASS6 Synonymous SNV K71K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.429 169188 chr1 36773415 36773415 C T rs115684297 SH3D21 Nonsynonymous SNV R50W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.4 169189 chr1 3425736 3425736 G C rs1032649027 MEGF6 Synonymous SNV L477L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 169190 chr10 134598905 134598905 G A NKX6-2 Nonsynonymous SNV P153L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 169191 chr1 109804935 109804935 A C rs771644376 CELSR2 Synonymous SNV P1471P 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.152 169192 chr13 46055366 46055366 C T rs369920768 COG3 Nonsynonymous SNV S184L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 169193 chr1 110038646 110038646 G A rs149684652 CYB561D1 Nonsynonymous SNV R95Q 0.003 0 0 4 3 0 0.01 0 0 0 0 0 22.9 169194 chr1 1563691 1563691 T G rs193243389 MIB2 Nonsynonymous SNV V677G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 169195 chr1 15654738 15654738 - T FHAD1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 169196 chr11 315039 315039 C T IFITM1 Synonymous SNV L102L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 169197 chr10 6061431 6061431 G A IL2RA Synonymous SNV T133T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.619 169198 chr13 60557941 60557941 T A DIAPH3 Nonsynonymous SNV Y218F 0 0 0 2 0 0 0.005 0 0 0 0 0 24 169199 chr13 73346322 73346322 C T rs547725369 DIS3 Nonsynonymous SNV R370Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 169200 chr13 73369551 73369551 A G PIBF1 Synonymous SNV K136K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.284 169201 chr17 78280988 78280988 A C rs201476526 RNF213 Nonsynonymous SNV T830P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 169202 chr1 3697669 3697669 C G rs145521876 LRRC47 Nonsynonymous SNV V579L 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 11.72 169203 chr1 46641974 46641974 T C rs761836392 LOC110117498-PIK3R3, P3R3URF Nonsynonymous SNV N57S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.949 169204 chr10 70178901 70178901 A T rs904539309 DNA2 Nonsynonymous SNV L953I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 169205 chr19 15281176 15281176 G A NOTCH3 Nonsynonymous SNV R1694W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 169206 chr11 1016654 1016654 T C rs77560588 MUC6 Synonymous SNV P2049P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 169207 chr10 72643782 72643782 A G rs749751658 PCBD1 Synonymous SNV H80H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.158 169208 chr1 52499317 52499317 A G KTI12 Synonymous SNV A39A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.374 169209 chr1 228509325 228509325 G A rs374735655 OBSCN Nonsynonymous SNV R4928Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 169210 chr1 228612866 228612866 C T rs138699472 H3-4 Nonsynonymous SNV R54H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.5 169211 chr11 1017980 1017980 G C MUC6 Nonsynonymous SNV H1607Q 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 0.292 169212 chr1 233518379 233518379 C T rs777839064 MAP3K21 Synonymous SNV Y1011Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.9 169213 chr1 165175203 165175203 G T rs140864022 LMX1A Nonsynonymous SNV P296T 0.003 0 0 0 3 0 0 0 0 0 0 0 11 169214 chr1 167522824 167522824 C G rs1052303040 CREG1 Nonsynonymous SNV R52P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 169215 chr1 57257785 57257785 G A rs767033112 FYB2 Nonsynonymous SNV P234L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.898 169216 chr14 20898413 20898413 C T rs377055513 KLHL33 Nonsynonymous SNV R141Q 0.001 0 0 4 1 0 0.01 0 0 0 0 0 18.97 169217 chr11 1263834 1263834 A G MUC5B Synonymous SNV T1908T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.608 169218 chr1 23720502 23720502 G A rs773896579 TCEA3 Nonsynonymous SNV T230M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.6 169219 chr1 54704654 54704668 AGAGTTAATCACTTT - SSBP3-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 169220 chr14 21993358 21993358 C T rs148603976 SALL2 Synonymous SNV P166P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.21 169221 chr19 21672562 21672562 C G LINC00664 0 0.003 0 0 0 1 0 0 0 0 0 0 9.162 169222 chr1 243434292 243434292 A G rs750977682 SDCCAG8 Nonsynonymous SNV K78R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 18.27 169223 chr18 32720275 32720275 A C rs756333635 MAPRE2 Nonsynonymous SNV E256A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.64 169224 chr1 24663180 24663180 T C GRHL3 Nonsynonymous SNV S113P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.97 169225 chr14 23588112 23588112 C T rs199734343 CEBPE Synonymous SNV A63A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 10.9 169226 chr1 84967554 84967554 G T GNG5 Nonsynonymous SNV P61T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 169227 chr14 30132983 30132983 G A rs55949943 PRKD1 Synonymous SNV N206N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 10.75 169228 chr1 85666540 85666540 C T rs546712035 SYDE2 Nonsynonymous SNV G47E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.94 169229 chr18 57567432 57567432 A G rs752762718 PMAIP1 Nonsynonymous SNV K8R 0.003 0 0.003 2 4 0 0.005 1 1 0 0 0 4.04 169230 chr14 38311463 38311474 ACTTGATCTTGA - rs775824939 TTC6 L511_E514del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 169231 chr1 2537692 2537692 T C rs896679970 MMEL1 Nonsynonymous SNV I249V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 169232 chr11 108384916 108384916 C T rs145665745 EXPH5 Nonsynonymous SNV D252N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 169233 chr1 27102075 27102075 G A rs116540923 ARID1A Synonymous SNV P1667P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.91 169234 chr1 27121319 27121319 T C rs377225655 PIGV Nonsynonymous SNV L265P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 20.3 169235 chr11 113295314 113295314 C T rs4986923 DRD2 Synonymous SNV R20R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.04 169236 chr1 27216543 27216543 G A rs368664469 GPN2 Synonymous SNV I15I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.54 169237 chr1 27278306 27278306 T C rs34291506 KDF1 Nonsynonymous SNV K189R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.3 169238 chr1 955619 955619 G C rs201073369 AGRN Nonsynonymous SNV V23L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 3.288 169239 chr1 9670607 9670607 C A rs192960233 TMEM201 Synonymous SNV L503L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.51 169240 chr11 113860389 113860389 C T rs35944954 HTR3A Synonymous SNV S479S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.61 169241 chr1 27688207 27688207 C G rs139722854 MAP3K6 Nonsynonymous SNV D515H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.542 169242 chr18 74208488 74208488 G C rs3813099 C18orf65 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 0.003 169243 chr18 76873346 76873346 G A rs145161958 ATP9B Nonsynonymous SNV A184T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 169244 chr1 908958 908958 G A PLEKHN1 Nonsynonymous SNV D423N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 169245 chr1 16531261 16531261 G A rs150370119 ARHGEF19 Nonsynonymous SNV R634W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 169246 chr11 118363817 118363817 C A KMT2A Nonsynonymous SNV P1684T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 169247 chr1 201180712 201180712 G A rs770326708 IGFN1 Nonsynonymous SNV G2231S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 169248 chr19 1003178 1003178 T C rs202186487 GRIN3B Nonsynonymous SNV L159P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.6 169249 chr1 36563449 36563449 G A COL8A2 Synonymous SNV I546I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 169250 chr11 12264304 12264304 C T rs199720685 MICAL2 Synonymous SNV H881H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 169251 chr1 204400886 204400886 G A rs61748805 PIK3C2B Synonymous SNV H1397H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.34 169252 chr14 73637651 73637651 C T rs143782428 PSEN1 Synonymous SNV G78G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.61 169253 chr20 2398198 2398198 G A rs74338361 TGM6 Nonsynonymous SNV V553M 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 12.65 169254 chr20 23347703 23347703 C T GZF1 Synonymous SNV H476H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.25 169255 chr20 2464828 2464828 G A rs75847265 ZNF343 Nonsynonymous SNV P170L 0.004 0 0 0 5 0 0 0 0 0 0 0 15.29 169256 chr11 124620739 124620739 - G rs766405238 VSIG2 Frameshift insertion T100Hfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 169257 chr14 74951189 74951189 T G rs142858704 NPC2 Nonsynonymous SNV N98H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 10.78 169258 chr20 17970610 17970610 A G MGME1 Nonsynonymous SNV Y218C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.8 169259 chr19 11363579 11363579 C T rs776824883 DOCK6 Nonsynonymous SNV R63Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21 169260 chr19 11833100 11833100 G C rs368892172 ZNF823 Nonsynonymous SNV Q235E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.002 169261 chr1 44804848 44804848 T A rs771124224 ERI3 Nonsynonymous SNV T42S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.04 169262 chr14 77493761 77493761 - TGC rs769935771 IRF2BPL Q127_L128insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 169263 chr19 12059189 12059189 A G rs764726181 ZNF700 Nonsynonymous SNV K120R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.308 169264 chr11 126968349 126968349 G A LOC101929473 0 0 0.003 0 0 0 0 1 0 0 0 0 1.267 169265 chr11 19191988 19191990 AAG - ZDHHC13 E373del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169266 chr20 3215214 3215214 C T SLC4A11 Synonymous SNV K113K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.85 169267 chr20 33586142 33586142 C T rs372826246 MYH7B Synonymous SNV S1306S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.64 169268 chr1 185984375 185984375 G A rs144433637 HMCN1 Nonsynonymous SNV R1572Q 0.009 0.013 0 1 10 5 0.003 0 0 0 0 0 31 169269 chr20 33880043 33880043 C G FAM83C Nonsynonymous SNV R22P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 169270 chr14 91739402 91739402 C T rs61742126 CCDC88C Nonsynonymous SNV R1885H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 34 169271 chr14 91805804 91805804 C T rs61220159 CCDC88C Synonymous SNV L209L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.9 169272 chr20 3675544 3675544 G A rs377286585 SIGLEC1 Nonsynonymous SNV P904S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 169273 chr20 3680105 3680105 G A rs7271709 SIGLEC1 Synonymous SNV A510A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.795 169274 chr11 32417936 32417936 A G rs151034312 WT1 Synonymous SNV P360P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.836 169275 chr1 19503158 19503158 G A rs138990690 UBR4 Nonsynonymous SNV R901C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 169276 chr20 30686911 30686911 G A rs557160696 HCK Nonsynonymous SNV V430I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.97 169277 chr19 15234320 15234320 C T rs769978884 ILVBL Nonsynonymous SNV R68Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.6 169278 chr11 18727366 18727366 T C rs773799121 IGSF22 Nonsynonymous SNV Y1303C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 169279 chr14 94844947 94844947 C T rs28929474 SERPINA1 Nonsynonymous SNV E366K 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Pathogenic, risk factor 26 169280 chr20 3838286 3838286 G A rs200238521 MAVS Nonsynonymous SNV R41Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 169281 chr19 15580325 15580325 T C rs375239066 PGLYRP2 Nonsynonymous SNV T587A 0 0.005 0 2 0 2 0.005 0 0 0 0 0 0.287 169282 chr20 31673899 31673899 G A rs372363944 BPIFB4 Synonymous SNV T285T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.52 169283 chr19 15918817 15918817 G A OR10H1 Stop gain Q11X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 169284 chr14 100363623 100363623 C T rs200809929 EML1 Synonymous SNV D273D 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Likely benign 17.37 169285 chr1 201982400 201982400 G A ELF3 Nonsynonymous SNV C260Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 169286 chr11 24759780 24759780 T G rs115629840 LUZP2 Nonsynonymous SNV S89A 0 0 0.014 0 0 0 0 4 0 0 0 0 24.3 169287 chr1 6310527 6310527 C G GPR153 Nonsynonymous SNV L379F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 169288 chr1 65131778 65131781 TGAC - CACHD1 T477Vfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 169289 chr14 104573159 104573159 C T rs770250979 ASPG Synonymous SNV A399A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.5 169290 chr20 42355146 42355146 A C rs760733486 GTSF1L Nonsynonymous SNV C63W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.3 169291 chr1 20669689 20669689 G A rs574725504 VWA5B1 Nonsynonymous SNV G810D 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 12.73 169292 chr20 55982683 55982683 G A rs201839752 RBM38 Synonymous SNV S167S 0.005 0 0 0 6 0 0 0 0 0 0 0 11.54 169293 chr20 56191476 56191476 G A rs371939630 ZBP1 Nonsynonymous SNV P28L 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 169294 chr19 1828430 1828430 G A rs766572646 REXO1 Nonsynonymous SNV R120C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.17 169295 chr11 3733835 3733835 A G rs768842423 NUP98 Synonymous SNV L854L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 169296 chr11 43581287 43581287 G T rs185097505 MIR670 0 0 0.01 0 0 0 0 3 0 0 0 0 16.65 169297 chr11 43919144 43919144 A G rs62621395 SEC14L1P1 0 0 0.024 0 0 0 0 7 0 0 0 0 4.835 169298 chr19 19767493 19767493 C T rs147926936 ATP13A1 Synonymous SNV T353T 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 15.24 169299 chr1 212149967 212149967 T C rs142806604 INTS7 Nonsynonymous SNV N473S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.05 169300 chr20 57899486 57899486 G A rs144250756 EDN3 Nonsynonymous SNV R216H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 18.7 169301 chr1 214557362 214557362 G A PTPN14 Synonymous SNV D612D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.077 169302 chr11 4661044 4661044 C T rs772997317 OR51D1 Synonymous SNV V8V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.092 169303 chr20 60882805 60882828 CCAGCCCATCCAGCTGAGCGACCT - ADRM1 P222_Q229del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169304 chr20 61468521 61468529 CCCCCAGGA - rs569423970 COL9A3 P567_G569del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 169305 chr20 61867619 61867619 C G rs11537908 BIRC7 Synonymous SNV G57G 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 6.533 169306 chr1 92646508 92646508 C G rs756286627 KIAA1107 Nonsynonymous SNV L577V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 169307 chr1 247695698 247695698 G A rs138226636 OR2C3 Nonsynonymous SNV S39L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 169308 chr19 35617402 35617402 G A LGI4 Synonymous SNV S357S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.413 169309 chr19 51738483 51738483 C T CD33 Nonsynonymous SNV L146F 0 0.003 0 0 0 1 0 0 0 0 0 0 3.392 169310 chr21 22804444 22804444 C T rs185457460 NCAM2 Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 169311 chr21 27284125 27284125 A G APP Nonsynonymous SNV F482L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 169312 chr11 5345343 5345343 G A rs148226586 OR51B2 Nonsynonymous SNV T62I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 169313 chr21 33954541 33954541 G A rs759080022 C21orf59-TCP10L, TCP10L Nonsynonymous SNV S110F 0.001 0 0 0 1 0 0 0 0 0 0 0 22 169314 chr11 55111239 55111239 T C rs76416749 OR4A16 Nonsynonymous SNV L188P 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 12.85 169315 chr11 55111258 55111258 A C rs75433926 OR4A16 Synonymous SNV G194G 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 0.005 169316 chr19 38746949 38746949 G A PPP1R14A Synonymous SNV L11L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.09 169317 chr21 32589945 32589945 C T rs767998110 TIAM1 Nonsynonymous SNV R689Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 169318 chr15 64452362 64452362 C T rs771584197 PPIB Nonsynonymous SNV R95H 0 0 0 5 0 0 0.013 0 0 0 0 0 34 169319 chr21 41465793 41465793 G A rs116157569 DSCAM Synonymous SNV S1235S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 8.293 169320 chr20 2637453 2637453 G A rs764465169 NOP56 Nonsynonymous SNV R398Q 0.003 0 0 0 3 0 0 0 0 0 0 0 29 169321 chr1 34180299 34180299 G A rs143791523 CSMD2 Synonymous SNV G1098G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 7.155 169322 chr20 2796362 2796362 G T rs764272961 C20orf141 Nonsynonymous SNV A147S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 169323 chr19 4171718 4171718 G A rs150431015 CREB3L3 Nonsynonymous SNV E379K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.64 169324 chr19 41932636 41932636 G T B3GNT8 Synonymous SNV L16L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.3 169325 chr15 74487649 74487649 C T rs138499753 STRA6 Synonymous SNV V197V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.544 169326 chr15 74710611 74710611 G A rs372161007 SEMA7A Nonsynonymous SNV R124W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 169327 chr21 43256287 43256287 C T rs762573727 PRDM15 Nonsynonymous SNV A442T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.8 169328 chr11 64597339 64597339 G C rs149394775 CDC42BPG Nonsynonymous SNV R1191G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.2 169329 chr11 64603286 64603286 G A rs149415030 CDC42BPG Nonsynonymous SNV T569M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.011 169330 chr21 46900641 46900641 G A rs757959579 COL18A1 Nonsynonymous SNV G674R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 169331 chr11 64811926 64811926 C T rs199990147 SAC3D1 Synonymous SNV P268P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.629 169332 chr21 46925280 46925280 G A rs201381498 COL18A1 Nonsynonymous SNV V1185I 0.006 0.005 0.003 0 7 2 0 1 1 0 0 0 Likely benign 0.381 169333 chr21 47570152 47570152 G A FTCD Nonsynonymous SNV P263S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.74 169334 chr11 5701030 5701030 G A TRIM5 Synonymous SNV H126H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.484 169335 chr15 85370829 85370829 C T rs770674872 ALPK3 Synonymous SNV I99I 0 0 0 3 0 0 0.008 0 0 0 0 0 19.34 169336 chr15 85400484 85400484 C T rs752796329 ALPK3 Nonsynonymous SNV P839S 0 0 0 3 0 0 0.008 0 0 0 0 0 19.78 169337 chr21 46875509 46875509 G A rs751529142 COL18A1 Nonsynonymous SNV R22Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.026 169338 chr20 43726874 43726874 C G KCNS1 Nonsynonymous SNV C180S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 169339 chr21 46888394 46888394 G A rs758681240 COL18A1 Synonymous SNV A295A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.164 169340 chr19 56539337 56539337 T C rs960402217 NLRP5 Nonsynonymous SNV Y580H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.941 169341 chr1 26315939 26315939 C T rs201064998 PAFAH2 Nonsynonymous SNV G82R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 169342 chr11 59610581 59610581 A G rs150884181 CBLIF Nonsynonymous SNV M97T 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 26.5 169343 chr1 55050376 55050376 C T rs200260398 ACOT11 Nonsynonymous SNV R28C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.1 169344 chr22 24567795 24567795 C T rs145513360 CABIN1 Nonsynonymous SNV R1908W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 169345 chr1 55166892 55166892 C T rs201277023 MROH7 Nonsynonymous SNV A579V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 169346 chr22 24628819 24628819 G A rs146969821 GGT5 Nonsynonymous SNV A114V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 169347 chr1 27658588 27658588 G A rs142488044 TMEM222 Nonsynonymous SNV A103T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.81 169348 chr11 60642633 60642633 C T rs112864814 ZP1 Synonymous SNV D562D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.881 169349 chr20 50769704 50769704 C T ZFP64 Nonsynonymous SNV E289K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 169350 chr11 61249879 61249879 C T rs73496204 PPP1R32 Nonsynonymous SNV A69V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.468 169351 chr22 29456467 29456467 T C rs41281607 C22orf31 Nonsynonymous SNV N123S 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.015 169352 chr11 62342686 62342686 A C rs143498027 TUT1 Synonymous SNV S835S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 169353 chr1 63282309 63282309 A G rs11545528 ATG4C Nonsynonymous SNV N75S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.19 169354 chr11 62489638 62489638 T C HNRNPUL2 Nonsynonymous SNV E437G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 169355 chr19 47987230 47987230 C T rs142867197 KPTN Nonsynonymous SNV R63Q 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 169356 chr22 31533008 31533008 C T rs758319025 PLA2G3 Nonsynonymous SNV R362H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 169357 chr22 26176055 26176055 C T rs564168303 MYO18B Nonsynonymous SNV R701W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.2 169358 chr11 63719891 63719891 C T rs34689425 NAA40 Synonymous SNV S67S 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 14.55 169359 chr20 61391521 61391521 C T rs140834874 NTSR1 Nonsynonymous SNV R387W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 169360 chr22 32257391 32257391 G A rs971993042 DEPDC5 Nonsynonymous SNV R1023H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.7 169361 chr1 41289826 41289826 C T rs189541861 KCNQ4 Synonymous SNV P396P 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Benign/Likely benign 13.55 169362 chr16 597040 597040 G A rs144165814 CAPN15 Nonsynonymous SNV G68S 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 23.5 169363 chr11 64520600 64520600 G A PYGM Nonsynonymous SNV T400I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 169364 chr20 62173652 62173652 G A rs140224808 SRMS Synonymous SNV L270L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.4 169365 chr19 49657018 49657018 C T rs143995804 HRC Nonsynonymous SNV G493S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.366 169366 chr1 43913981 43913981 G C rs569613488 SZT2 Synonymous SNV L3208L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 7.648 169367 chr19 49704023 49704023 T C rs35516880 TRPM4 Synonymous SNV I624I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign/Likely benign 5.094 169368 chr1 44056889 44056889 C T rs61733187 PTPRF Nonsynonymous SNV P399L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.9 169369 chr19 49705291 49705291 G A rs35145363 TRPM4 Synonymous SNV A654A 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Benign 9.854 169370 chr1 8601305 8601305 A G RERE Synonymous SNV F266F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.5 169371 chr11 65547775 65547775 C T rs114368095 AP5B1 Synonymous SNV Q63Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 2.919 169372 chr1 44605034 44605034 G A KLF18 Nonsynonymous SNV T757I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.103 169373 chr1 45272150 45272150 C A rs771403740 TCTEX1D4 Nonsynonymous SNV R64L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 27.3 169374 chr1 45469182 45469182 C A rs557858954 HECTD3 Nonsynonymous SNV M856I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 169375 chr22 41605809 41605809 G C rs150194965 L3MBTL2 Nonsynonymous SNV S45T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 169376 chr19 50100268 50100268 G C rs746772578 PRR12 Synonymous SNV P892P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 4.425 169377 chr19 501816 501816 C T rs187800291 MADCAM1 Nonsynonymous SNV P272L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 11.78 169378 chr1 89655839 89655839 G A rs369474687 GBP4 Nonsynonymous SNV P360L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 169379 chr1 47276584 47276584 T A rs150307866 CYP4B1 Stop gain Y95X 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 169380 chr11 66807561 66807561 A C rs11227664 SYT12 Nonsynonymous SNV N55H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.779 169381 chr11 67018002 67018002 G A rs777607633 KDM2A Nonsynonymous SNV R395H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 169382 chr11 67074401 67074401 G A rs528844729 SSH3 Synonymous SNV T144T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.201 169383 chr1 90178723 90178723 C T rs138990518 LRRC8C Synonymous SNV T198T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.29 169384 chr11 67219462 67219462 G A rs202045202 GPR152 Nonsynonymous SNV A245V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 169385 chr22 43539292 43539292 G C MCAT Synonymous SNV G21G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.226 169386 chr1 9117596 9117596 C T rs61755162 SLC2A5 Synonymous SNV T68T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 169387 chr1 53387308 53387308 G A rs200668547 ECHDC2 Nonsynonymous SNV P13L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.11 169388 chr22 38917656 38917656 G A rs375355161 DMC1 Stop gain R249X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 169389 chr21 30426506 30426508 TAA - rs755461054 USP16 *823* 0.003 0.003 0 0 3 1 0 0 0 0 0 0 169390 chr11 67941365 67941365 G T rs114727354 KMT5B Synonymous SNV R164R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.01 169391 chr22 45723821 45723821 G A rs140992687 FAM118A Synonymous SNV S133S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 10.33 169392 chr1 94363421 94363421 G A rs143382844 GCLM Nonsynonymous SNV S82L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 169393 chr22 45726516 45726516 C T rs757936015 FAM118A Synonymous SNV Y111Y 0.003 0 0 0 3 0 0 0 0 0 0 0 7.92 169394 chr11 113857715 113857715 C A HTR3A Nonsynonymous SNV T394N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.632 169395 chr1 95290123 95290123 C T rs369177498 SLC44A3 Synonymous SNV N34N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 169396 chr1 984426 984426 C T rs201346452 AGRN Nonsynonymous SNV R1429C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24 169397 chr21 35144509 35144509 G A rs779207769 ITSN1 Nonsynonymous SNV R396H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 169398 chr1 60338597 60338597 G A rs545100232 HOOK1 Nonsynonymous SNV R716K 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.9 169399 chr11 117097881 117097881 C T rs780457857 PCSK7 Nonsynonymous SNV R254H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 169400 chr22 45593817 45593817 T C rs774355341 KIAA0930 Nonsynonymous SNV N343S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.24 169401 chr11 118773050 118773050 G A rs148999907 BCL9L Nonsynonymous SNV P468S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.44 169402 chr20 1592178 1592178 G A SIRPB1 Synonymous SNV F86F 0.004 0 0 0 5 0 0 0 2 0 0 0 0.594 169403 chr11 119043685 119043685 C A rs149657754 NLRX1 Nonsynonymous SNV S72R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 169404 chr16 9916144 9916144 G A rs141471530 GRIN2A Synonymous SNV D715D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 10.28 169405 chr11 75379138 75379138 G C MAP6 Nonsynonymous SNV R93G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 169406 chr1 10493990 10493990 C T rs146938181 CENPS, CENPS-CORT Nonsynonymous SNV A48V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 169407 chr11 76885901 76885901 G A rs35641839 MYO7A Nonsynonymous SNV V679I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.8 169408 chr11 76901819 76901819 G A rs78871677 MYO7A Synonymous SNV S1276S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.54 169409 chr11 76922208 76922208 G A rs111033209 MYO7A Synonymous SNV K2021K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 12.35 169410 chr19 53855746 53855746 G A rs776661745 ZNF845 Synonymous SNV S606S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.711 169411 chr16 14334345 14334345 C T rs369777614 MRTFB Synonymous SNV Y350Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.23 169412 chr2 102781436 102781436 G A rs202222726 IL1R1 Synonymous SNV V88V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.738 169413 chr11 78467897 78467897 G T rs201248880 TENM4 Synonymous SNV G903G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.421 169414 chr20 24993556 24993556 G A ACSS1 Synonymous SNV D412D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.822 169415 chr22 50944492 50944492 C T rs112782856 LMF2 Nonsynonymous SNV R224H 0.006 0.003 0.014 0 7 1 0 4 0 0 0 0 23.7 169416 chr21 45712240 45712240 C T rs149078622 AIRE Nonsynonymous SNV R351W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 169417 chr19 55445006 55445006 A G rs776102152 NLRP7 Nonsynonymous SNV I858T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.54 169418 chr11 87025562 87025562 C T rs138139341 TMEM135 Synonymous SNV S328S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 169419 chr2 113670592 113670592 G A rs776169140 IL37 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 24 169420 chr21 46197317 46197317 G C rs201302246 UBE2G2 Synonymous SNV T47T 0.003 0 0 0 4 0 0 0 0 0 0 0 9.743 169421 chr20 30365346 30365346 C T TPX2 Nonsynonymous SNV R263C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 169422 chr2 10188137 10188137 A C rs200061013 KLF11 Nonsynonymous SNV S208R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 0.032 169423 chr11 9225271 9225271 C T rs781687208 DENND5A Synonymous SNV V271V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.896 169424 chr16 28507296 28507322 ACAGCCTCAGGCGGGGAGGAGGCTGAA - APOBR E320_A328del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169425 chr16 30036557 30036557 G A TLCD3B Nonsynonymous SNV R208C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 169426 chr19 55870550 55870550 G A rs537757899 FAM71E2 Synonymous SNV G562G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.836 169427 chr22 18222182 18222182 C T rs370897535 BID Nonsynonymous SNV R3H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.382 169428 chr16 31092668 31092668 C T rs372927536 ZNF646 Nonsynonymous SNV R1675W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 169429 chr20 34541688 34541688 C G SCAND1 Synonymous SNV T236T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.27 169430 chr22 19711613 19711613 A G GP1BB Nonsynonymous SNV T83A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 169431 chr1 12067157 12067157 C G rs141468012 MFN2 Synonymous SNV L640L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.671 169432 chr2 136023233 136023233 C A rs185868777 ZRANB3 Synonymous SNV L470L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.72 169433 chr12 103352125 103352148 GCCGCAGCCGCGGCGGCCGCAGCC - rs756714075 ASCL1 A40_A47del 0 0 0.007 0 0 0 0 2 0 0 0 0 169434 chr1 12428619 12428619 T A rs138589707 VPS13D Synonymous SNV P3490P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.713 169435 chr22 21998264 21998264 C G SDF2L1 Nonsynonymous SNV R156G 0.001 0 0 0 1 0 0 0 0 0 0 0 34 169436 chr1 9305325 9305325 T C rs571445484 H6PD Nonsynonymous SNV L122P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 169437 chr16 50745137 50745137 C T rs375201229 NOD2 Nonsynonymous SNV R412C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.33 169438 chr22 22842695 22842695 G A rs571645161 ZNF280B Synonymous SNV T343T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.289 169439 chr20 42885925 42885925 G A rs149151812 GDAP1L1 Nonsynonymous SNV D105N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 169440 chr2 141274547 141274547 A G rs761101203 LRP1B Nonsynonymous SNV F2687S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 169441 chr22 24125680 24125680 C T rs144394718 MMP11 Synonymous SNV L472L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.02 169442 chr1 145438913 145438913 A G TXNIP Synonymous SNV E37E 0 0.005 0 0 0 2 0 0 0 0 0 0 9.355 169443 chr12 109509428 109509428 A G rs759178419 USP30 Synonymous SNV E164E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.941 169444 chr12 6155920 6155920 G A rs765691813 VWF Synonymous SNV D750D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.296 169445 chr12 109684039 109684039 G A rs144673785 ACACB Nonsynonymous SNV R1786Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 28.1 169446 chr19 58477955 58477955 G A rs200742590 C19orf18 Nonsynonymous SNV S105L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 169447 chr2 133540301 133540301 C T rs143304304 NCKAP5 Synonymous SNV Q1361Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.779 169448 chr22 27021502 27021502 C T rs148454808 CRYBA4 Synonymous SNV G72G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.63 169449 chr1 151131713 151131713 C T rs142224661 TNFAIP8L2 Synonymous SNV D180D 0 0.005 0 0 0 2 0 0 0 0 0 0 11.8 169450 chr12 6703700 6703700 G A rs141301378 CHD4 Synonymous SNV D739D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 10.47 169451 chr12 112750839 112750839 A T rs761650463 HECTD4 Nonsynonymous SNV S300T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 169452 chr16 58750046 58750046 A T rs745800685 GOT2 Nonsynonymous SNV D254E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 169453 chr12 6976702 6976702 C G rs181882616 TPI1 Nonsynonymous SNV T28S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.06 169454 chr12 7052997 7052997 A G RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 169455 chr1 152059489 152059489 C G rs756998522 TCHHL1 Nonsynonymous SNV E223D 0 0.005 0 0 0 2 0 0 0 0 0 0 8.886 169456 chr12 113398974 113398974 C T rs141839417 OAS3 Synonymous SNV L586L 0.003 0 0.01 0 3 0 0 3 0 0 0 0 7.125 169457 chr2 152544153 152544153 T C rs189623595 NEB Nonsynonymous SNV K837R 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.216 169458 chr2 153475556 153475556 T C rs11897929 FMNL2 Nonsynonymous SNV M504T 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 0.002 169459 chr19 7963948 7963948 G A rs3745379 LRRC8E Nonsynonymous SNV E52K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.01 169460 chr19 7965669 7965669 C T rs3745385 LRRC8E Synonymous SNV G625G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.125 169461 chr19 7996071 7996071 G A rs139333938 TIMM44 Synonymous SNV A330A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 13.24 169462 chr22 37407296 37407296 G A rs143819572 TST Synonymous SNV F222F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.2 169463 chr22 37485618 37485618 G A rs5995378 TMPRSS6 Nonsynonymous SNV S279L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.2 169464 chr19 8150353 8150353 C T rs61729617 FBN3 Synonymous SNV G2327G 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 14.34 169465 chr19 8150428 8150428 G A rs34514496 FBN3 Synonymous SNV A2302A 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 10.57 169466 chr1 155001829 155001829 C T rs148897324 DCST2 Nonsynonymous SNV E408K 0 0.005 0 0 0 2 0 0 0 0 0 0 6.564 169467 chr12 122516895 122516895 G A rs749022808 MLXIP Nonsynonymous SNV A46T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 169468 chr19 8182419 8182419 T C rs75824176 FBN3 Nonsynonymous SNV N1131S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.7 169469 chr20 57767148 57767148 G T rs765136934 ZNF831 Synonymous SNV A358A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 169470 chr20 57829385 57829385 A C ZNF831 Nonsynonymous SNV T1541P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 169471 chr12 123950439 123950439 G A rs371331458 SNRNP35 Nonsynonymous SNV D118N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 169472 chr12 123983208 123983208 C T rs202153770 RILPL1 Synonymous SNV E228E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 169473 chr19 8322807 8322807 C T rs116659063 CERS4 Synonymous SNV D262D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.27 169474 chr12 126929446 126929446 T C rs73228998 LINC02347 0 0 0.02 0 0 0 0 6 0 0 0 0 1.737 169475 chr1 156811514 156811514 C T rs139192917 INSRR Nonsynonymous SNV R1157H 0 0.005 0 0 0 2 0 0 0 0 0 0 34 169476 chr16 84492987 84492987 G A rs186839647 ATP2C2 Synonymous SNV A625A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 10.1 169477 chr2 179643959 179643959 T C TTN Synonymous SNV P1274P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.881 169478 chr2 186697887 186697887 G A rs185699295 FSIP2 Synonymous SNV K6886K 0.003 0 0 0 3 0 0 0 0 0 0 0 8.489 169479 chr12 18854479 18854480 CT - rs777169092 PLCZ1 V133Kfs*25 0 0 0.007 0 0 0 0 2 0 0 0 0 169480 chr12 32490629 32490629 G A rs201830478 BICD1 Nonsynonymous SNV G817S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.92 169481 chr20 3722944 3722944 G A HSPA12B Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 169482 chr19 9072667 9072667 C A rs764500898 MUC16 Nonsynonymous SNV V4927L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 1.988 169483 chr16 88930739 88930739 C T rs182596572 PABPN1L Nonsynonymous SNV G235R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 169484 chr2 197863683 197863683 T C rs112089165 ANKRD44 Synonymous SNV S871S 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 2.683 169485 chr20 42343775 42343775 C T rs202052279 MYBL2 Nonsynonymous SNV P585L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 169486 chr12 29639878 29639878 T C OVCH1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.131 169487 chr20 43379324 43379324 C G rs541211674 KCNK15 Nonsynonymous SNV P280A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.006 169488 chr20 43561728 43561728 G A rs371175165 PABPC1L Nonsynonymous SNV R454Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.71 169489 chr19 9524242 9524244 ATT - rs752357635 ZNF266 N453del 0.003 0 0 4 4 0 0.01 0 0 0 0 0 169490 chr20 45174053 45174053 G A rs191128802 OCSTAMP Synonymous SNV D320D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.248 169491 chr21 30415882 30415882 C G USP16 Nonsynonymous SNV Q439E 0.002 0 0 0 2 0 0 0 0 0 0 0 19.81 169492 chr1 10408750 10408750 G A rs149889673 KIF1B Nonsynonymous SNV G1257E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 169493 chr21 33688854 33688854 C T rs750760039 URB1 Nonsynonymous SNV R2186Q 0.004 0 0 0 5 0 0 0 0 0 0 0 7.428 169494 chr1 10725460 10725460 C T rs201097433 CASZ1 Nonsynonymous SNV R62Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.25 169495 chr17 1840617 1840617 C T rs375946051 RTN4RL1 Nonsynonymous SNV D167N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 169496 chr17 1990414 1990414 C G SMG6 Nonsynonymous SNV E15D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.438 169497 chr2 200803783 200803783 T C TYW5 Nonsynonymous SNV D120G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 169498 chr12 49176462 49176462 G A ADCY6 Synonymous SNV L252L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.455 169499 chr2 201437622 201437622 A G rs376607922 SGO2 Synonymous SNV T851T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.004 169500 chr12 52771933 52771933 A T rs181759156 KRT84 Nonsynonymous SNV V563D 0.009 0.005 0.014 2 10 2 0.005 4 1 0 0 0 13.26 169501 chr12 49497477 49497477 T A LMBR1L Synonymous SNV S127S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.352 169502 chr21 37728997 37728997 C T rs897793063 MORC3 Synonymous SNV L324L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 169503 chr21 37833658 37833658 G A rs754350037 CLDN14 Synonymous SNV P112P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 169504 chr21 38098609 38098609 C T SIM2 Synonymous SNV L245L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 169505 chr2 219209672 219209672 C T rs200042352 PNKD Nonsynonymous SNV R352C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 35 169506 chr17 3788812 3788812 C G rs149002011 CAMKK1 Nonsynonymous SNV S57T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.133 169507 chr2 219339468 219339468 A T USP37 Nonsynonymous SNV D728E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.78 169508 chr21 41459198 41459198 C T DSCAM Synonymous SNV L1289L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.22 169509 chr1 113051909 113051909 G A rs36006679 WNT2B Nonsynonymous SNV E9K 0.007 0.003 0.003 3 8 1 0.008 1 0 0 0 0 24.6 169510 chr2 220046430 220046430 T C rs1041821316 RETREG2 Synonymous SNV S109S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.51 169511 chr2 219870896 219870896 C T rs778332734 CFAP65 Stop gain W1590X 0.003 0 0 0 3 0 0 0 0 0 0 0 45 169512 chr2 121708915 121708915 C G GLI2 Synonymous SNV A117A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.21 169513 chr12 53097125 53097125 G A rs139240914 KRT77 Nonsynonymous SNV P32S 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 0.002 169514 chr1 11829155 11829155 C T rs41275454 C1orf167 Synonymous SNV P556P 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 2.828 169515 chr17 5347818 5347818 C T rs139645406 DHX33 Nonsynonymous SNV A438T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.154 169516 chr2 128466414 128466414 G A rs143968708 WDR33 Synonymous SNV H1206H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.313 169517 chr12 53447257 53447257 G A LOC283335 0 0 0.003 0 0 0 0 1 0 0 0 0 7.379 169518 chr2 220379700 220379700 C T rs777402491 ASIC4 Nonsynonymous SNV A212V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.24 169519 chr2 131521032 131521032 C T rs749603774 AMER3 Stop gain R463X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 169520 chr12 54967452 54967452 G C rs139284651 PDE1B Nonsynonymous SNV Q137H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.4 169521 chr1 13839726 13839726 G C rs943186744 LRRC38 Synonymous SNV A121A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.11 169522 chr17 7130557 7130557 G A rs374542663 DVL2 Synonymous SNV H465H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 169523 chr1 19467924 19467924 G T rs201991573 UBR4 Nonsynonymous SNV P2802H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 169524 chr2 219232520 219232520 C G rs988905940 CATIP Nonsynonymous SNV L344V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 169525 chr21 46876735 46876735 G A rs762263431 COL18A1 Nonsynonymous SNV A431T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.135 169526 chr12 56713756 56713756 T C rs61754169 PAN2 Synonymous SNV A950A 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 6.956 169527 chr12 57571249 57571249 C T rs2228187 LRP1 Synonymous SNV R1412R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 14.72 169528 chr2 219457092 219457092 G A rs777795311 CNOT9 Synonymous SNV T202T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 169529 chr2 219603069 219603069 T A rs775136669 TTLL4 Nonsynonymous SNV W224R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.716 169530 chr12 57989692 57989692 - G PIP4K2C Frameshift insertion P131Rfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 169531 chr12 57994684 57994684 G A rs145883345 PIP4K2C Nonsynonymous SNV V254M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.93 169532 chr21 30338691 30338691 C A LTN1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.3 169533 chr22 18022356 18022356 C A rs752731044 CECR2 Nonsynonymous SNV P679T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 169534 chr22 18028672 18028672 C G rs199780601 CECR2 Nonsynonymous SNV P1068R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.74 169535 chr22 18300315 18300315 G A MICAL3 Synonymous SNV S1704S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 169536 chr2 233323436 233323436 A G rs144548496 ALPI Synonymous SNV P426P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.115 169537 chr2 160076334 160076334 C T rs768936831 TANC1 Nonsynonymous SNV R1011C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 169538 chr12 69230476 69230476 G A rs758860429 MDM2 Nonsynonymous SNV A113T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 169539 chr1 154471671 154471671 C T rs770119615 SHE Nonsynonymous SNV R212Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.9 169540 chr17 12656401 12656401 C T rs200608681 MYOCD Nonsynonymous SNV P599L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.359 169541 chr2 238451297 238451297 C T rs558090433 MLPH Nonsynonymous SNV L392F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 169542 chr1 207237135 207237135 C T rs370725057 PFKFB2 Synonymous SNV S156S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 18.56 169543 chr1 155296813 155296813 G C rs374642508 RUSC1 Nonsynonymous SNV E293D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.21 169544 chr2 233712240 233712251 CAGCAGCCGCCA - rs755084616 GIGYF2 P1216_P1219del 0.002 0 0 0 2 0 0 0 0 0 0 0 169545 chr17 18181063 18181063 T C TOP3A Nonsynonymous SNV Q823R 0 0 0 2 0 0 0.005 0 0 0 0 0 21.9 169546 chr12 106848375 106848375 T C rs375960295 POLR3B Synonymous SNV L669L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.181 169547 chr2 178096127 178096127 C T rs749922065 NFE2L2 Nonsynonymous SNV D372N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 169548 chr1 156752120 156752120 A C rs139727655 PRCC Nonsynonymous SNV Q172P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.7 169549 chr2 178988958 178988958 A G RBM45 Synonymous SNV R391R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 169550 chr2 179418306 179418306 C T rs72648238 TTN Nonsynonymous SNV R20744Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 169551 chr2 179470332 179470332 T C rs937899757 TTN Nonsynonymous SNV Y8832C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 169552 chr22 30975752 30975752 C T rs774519435 PES1 Nonsynonymous SNV R442Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 169553 chr13 103486878 103486878 A G rs752085479 BIVM, BIVM-ERCC5 Nonsynonymous SNV K137R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 169554 chr17 26905104 26905104 T G rs138772502 SPAG5 Nonsynonymous SNV N1145T 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 24.7 169555 chr2 242078140 242078140 G A rs145741558 PASK Nonsynonymous SNV R224C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.4 169556 chr17 27963753 27963753 T C rs148476155 SSH2 Nonsynonymous SNV I472V 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.31 169557 chr2 242716400 242716400 G A rs78620448 GAL3ST2 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 169558 chr2 38179031 38179031 C - RMDN2 D226Ifs*20 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169559 chr2 39088950 39088950 G A rs200740675 DHX57 Nonsynonymous SNV A99V 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.95 169560 chr13 25453420 25453420 A G rs2275939 RNF17 Synonymous SNV E1619E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.416 169561 chr13 25480145 25480145 G A rs61729909 CENPJ Synonymous SNV A677A 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign 9.29 169562 chr13 25486877 25486877 T C rs61739263 CENPJ Nonsynonymous SNV H96R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 0.002 169563 chr2 28635038 28635038 C T rs374401510 FOSL2 Nonsynonymous SNV S235L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.02 169564 chr12 124413965 124413965 G C DNAH10 Nonsynonymous SNV Q4032H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 169565 chr13 28542699 28542699 C A rs77186314 CDX2 Nonsynonymous SNV A149S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 13.82 169566 chr22 40804683 40804683 T A rs757509320 SGSM3 Nonsynonymous SNV V523E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 169567 chr2 38231289 38231289 A T rs147688126 RMDN2 Nonsynonymous SNV D225V 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 23.7 169568 chr13 28578213 28578213 C T rs56027115 FLT3 Synonymous SNV P986P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 11.11 169569 chr13 28609651 28609651 C G rs58490213 FLT3 Synonymous SNV T526T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.08 169570 chr2 38537583 38537583 G C ATL2 Nonsynonymous SNV Q100E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.056 169571 chr12 125451346 125451346 C T rs146673011 DHX37 Nonsynonymous SNV R528Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.836 169572 chr2 202900145 202900145 G A rs769990859 FZD7 Nonsynonymous SNV V259M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 169573 chr22 42154434 42154434 A T MEI1 Nonsynonymous SNV S673C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 169574 chr2 61508285 61508285 T C rs143014082 USP34 Synonymous SNV L1697L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.409 169575 chr2 37010538 37010538 A C rs145378979 VIT Synonymous SNV G264G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 5.194 169576 chr2 45233332 45233332 T G SIX2 Nonsynonymous SNV N285H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 169577 chr13 39544435 39544435 C T rs374155998 STOML3 Nonsynonymous SNV D135N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 169578 chr1 232551265 232551265 G C rs202017607 SIPA1L2 Synonymous SNV L1579L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.37 169579 chr13 42461453 42461453 A G VWA8 Synonymous SNV V232V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.278 169580 chr1 233515279 233515279 C T rs146176484 MAP3K21 Nonsynonymous SNV P843S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.319 169581 chr13 46104026 46104026 C T rs556337262 COG3 Synonymous SNV T777T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 169582 chr22 33402426 33402426 G A rs761147851 SYN3 Synonymous SNV T74T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.984 169583 chr2 73651738 73651738 T C rs183390773 ALMS1 Synonymous SNV S315S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.951 169584 chr13 52971834 52971834 G A THSD1 Nonsynonymous SNV P185L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.981 169585 chr13 73369604 73369604 G A rs367692878 PIBF1 Nonsynonymous SNV R154Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 169586 chr13 27690730 27690730 C T rs771072514 USP12 Nonsynonymous SNV A18T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 169587 chr22 46929578 46929578 G C CELSR1 Nonsynonymous SNV R1164G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 169588 chr2 80530606 80530606 G A rs757711718 LRRTM1 Synonymous SNV R113R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.282 169589 chr2 61415900 61415900 - G rs534624755 AHSA2P 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 169590 chr22 40283739 40283739 C G ENTHD1 Nonsynonymous SNV R5T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 169591 chr14 100380630 100380630 C A rs375650693 EML1 Nonsynonymous SNV P537T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 169592 chr22 41790311 41790311 C T rs140154392 TEF Synonymous SNV D199D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12.87 169593 chr2 220112156 220112156 A G rs768764705 STK16 Nonsynonymous SNV I36V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 4.195 169594 chr13 33628272 33628272 A G rs139912465 KL Synonymous SNV Q396Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 0.303 169595 chr13 35747636 35747636 C T NBEA Nonsynonymous SNV R1487W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 169596 chr13 36686188 36686188 C T DCLK1 Nonsynonymous SNV D181N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 169597 chr13 39613385 39613385 T C rs765204720 NHLRC3 Nonsynonymous SNV V66A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 169598 chr14 104644054 104644054 C T rs778648532 KIF26A Synonymous SNV P1643P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 169599 chr3 100976556 100976556 C T rs750457079 IMPG2 Nonsynonymous SNV D324N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 169600 chr14 105398145 105398145 G A PLD4 Nonsynonymous SNV V334M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 169601 chr1 196879471 196879471 G A rs188298928 CFHR4 Nonsynonymous SNV R287H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.46 169602 chr1 200818130 200818130 C T rs147866762 CAMSAP2 Synonymous SNV L729L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 2.646 169603 chr13 52531686 52531686 C T rs761258963 ATP7B Nonsynonymous SNV V643I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 169604 chr14 20898405 20898405 G C rs758014312 KLHL33 Nonsynonymous SNV L144V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 169605 chr2 230653540 230653540 T C rs149642198 TRIP12 Synonymous SNV T1259T 0.008 0 0.007 2 9 0 0.005 2 0 0 0 0 7.342 169606 chr2 95815709 95815709 A G rs745940748 ZNF514 Nonsynonymous SNV M247T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 169607 chr2 96966769 96966769 G A rs771467362 SNRNP200 Synonymous SNV Y199Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.757 169608 chr14 21464859 21464859 C T rs758402079 METTL17 Synonymous SNV R418R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 169609 chr2 97019095 97019095 G A rs201930721 NCAPH Nonsynonymous SNV G185E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 169610 chr1 201617929 201617929 A C rs770510931 NAV1 Nonsynonymous SNV K45Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.7 169611 chr3 100058008 100058008 C T rs145971271 NIT2 Nonsynonymous SNV R29W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 169612 chr2 234198514 234198514 A G ATG16L1 Synonymous SNV G243G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.56 169613 chr3 119204231 119204231 C G POGLUT1 Stop gain S212X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 37 169614 chr1 26517781 26517781 G A rs778169515 CATSPER4 Nonsynonymous SNV A73T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.021 169615 chr14 23511935 23511935 C T rs370430852 PSMB11 Synonymous SNV G167G 0 0 0.007 0 0 0 0 2 0 0 0 0 4.628 169616 chr13 100635007 100635007 - CCA rs398124241 ZIC2 H239_P240insH 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 169617 chr17 58701023 58701023 A G PPM1D Nonsynonymous SNV D205G 0 0 0 2 0 0 0.005 0 0 0 0 0 23 169618 chr2 10140815 10140815 C G GRHL1 Nonsynonymous SNV L613V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 169619 chr3 105588217 105588217 C T rs950622392 CBLB Nonsynonymous SNV G6S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.42 169620 chr3 121341256 121341256 G T FBXO40 Nonsynonymous SNV C327F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 169621 chr3 108112894 108112894 T C MYH15 Nonsynonymous SNV K1768R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 169622 chr14 24884615 24884615 C T rs373087177 NYNRIN Synonymous SNV S1220S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.614 169623 chr3 105260513 105260513 A G ALCAM Nonsynonymous SNV T299A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.29 169624 chr17 65175027 65175027 A G HELZ Nonsynonymous SNV M393T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.35 169625 chr13 110960426 110960426 C T rs748996226 COL4A2 Synonymous SNV L19L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 169626 chr3 112299584 112299584 C T rs148623174 SLC35A5 Nonsynonymous SNV A89V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.898 169627 chr14 33015981 33015981 C G rs772073844 AKAP6 Nonsynonymous SNV L708V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.9 169628 chr2 113260654 113260654 A G rs766208294 TTL Synonymous SNV E257E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.405 169629 chr17 68128977 68128977 C T rs138520154 KCNJ16 Nonsynonymous SNV P285L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.7 169630 chr3 113187979 113187979 G A rs181062542 SPICE1 Nonsynonymous SNV P240S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 169631 chr2 120404580 120404580 A G CFAP221 Nonsynonymous SNV I758V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 169632 chr3 119426354 119426354 G A rs142599077 MAATS1 Nonsynonymous SNV R40Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.6 169633 chr2 24431123 24431123 C T rs138517130 ITSN2 Nonsynonymous SNV R1514H 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 24.1 169634 chr2 24930009 24930009 G C rs772308327 NCOA1 Nonsynonymous SNV S557T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.449 169635 chr17 73748368 73748368 G A rs551420609 ITGB4 Nonsynonymous SNV G1303R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.2 169636 chr3 122271357 122271357 G A rs200278388 PARP9 Nonsynonymous SNV R374W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 169637 chr2 136107640 136107640 G A rs557903085 ZRANB3 Nonsynonymous SNV R169C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 34 169638 chr3 123452710 123452710 C T rs56378658 MYLK Nonsynonymous SNV R202H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.15 169639 chr14 64892470 64892470 G A rs34181110 MTHFD1 Nonsynonymous SNV R293H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 23 169640 chr2 29287816 29287816 C A PCARE Synonymous SNV G1262G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.64 169641 chr2 152321618 152321618 G A rs2444258 RIF1 Nonsynonymous SNV V1862I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.127 169642 chr2 175618298 175618298 G A rs137852798 CHRNA1 Synonymous SNV N237N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 10.64 169643 chr14 24550505 24550505 G - rs761024023 NRL C219Vfs*4 0.003 0 0 0 3 0 0 0 0 0 0 0 169644 chr2 152432785 152432785 G A rs186902443 NEB Synonymous SNV N3895N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 9.725 169645 chr3 128204960 128204960 G C rs34799090 GATA2 Nonsynonymous SNV P161A 0.007 0.003 0.014 8 8 1 0.021 4 0 0 0 0 Benign/Likely benign 17.13 169646 chr14 24731278 24731278 C T rs121918729 TGM1 Nonsynonymous SNV G94D 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 14.81 169647 chr2 158178060 158178060 T A ERMN Nonsynonymous SNV N173I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.77 169648 chr2 162760551 162760551 G T rs755321628 SLC4A10 Nonsynonymous SNV A415S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.6 169649 chr2 179499179 179499179 A G rs34706299 TTN Nonsynonymous SNV V5045A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 169650 chr2 44099142 44099142 G A rs751950437 ABCG8 Nonsynonymous SNV S331N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.94 169651 chr2 44586773 44586773 A C rs146729699 PREPL Nonsynonymous SNV L28V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 5.261 169652 chr14 38170670 38170670 C A TTC6 Nonsynonymous SNV L520I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.91 169653 chr2 47202176 47202176 G C rs145332653 TTC7A Nonsynonymous SNV E194D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 169654 chr3 15642919 15642919 T C rs751795931 HACL1 Nonsynonymous SNV K18E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.89 169655 chr2 55253819 55253819 A G RTN4 Synonymous SNV T266T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.033 169656 chr2 179640598 179640598 C T rs144135510 TTN Nonsynonymous SNV R1952H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 169657 chr3 14199560 14199560 C T rs768979551 XPC Nonsynonymous SNV R415K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.57 169658 chr2 175779805 175779805 T C rs201101396 CHN1 Nonsynonymous SNV T98A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 17.33 169659 chr15 101592014 101592014 G A LRRK1 Nonsynonymous SNV E1180K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 169660 chr18 5419784 5419784 G A rs748736095 EPB41L3 Nonsynonymous SNV R496W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 29.3 169661 chr14 59970780 59970780 A G rs199627890 JKAMP Nonsynonymous SNV N303S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 169662 chr18 7033010 7033010 C A rs139988519 LAMA1 Synonymous SNV P712P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 15.48 169663 chr15 31294047 31294047 G A rs751690363 TRPM1 Nonsynonymous SNV A1636V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.961 169664 chr15 34014916 34014916 G A RYR3 Nonsynonymous SNV S2207N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 169665 chr14 68026336 68026336 G A PLEKHH1 Synonymous SNV R117R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 169666 chr14 68126585 68126585 T C VTI1B Nonsynonymous SNV M77V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 169667 chr2 74687869 74687869 T C INO80B-WBP1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.89 169668 chr3 193029715 193029715 T C rs145000399 ATP13A5 Nonsynonymous SNV T779A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.058 169669 chr2 1946887 1946887 G A rs532643748 MYT1L Synonymous SNV D124D 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.729 169670 chr1 248487379 248487379 A G OR2M7 Synonymous SNV F164F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.027 169671 chr2 86310225 86310225 G A rs764135441 POLR1A Nonsynonymous SNV S266F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.243 169672 chr3 195516784 195516784 G A rs200887189 MUC4 Nonsynonymous SNV P556L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.003 169673 chr1 248525353 248525353 C T rs41308198 OR2T4 Synonymous SNV A157A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 13.39 169674 chr3 183860049 183860049 C T rs770947243 EIF2B5 Synonymous SNV L443L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.395 169675 chr1 2523451 2523451 T C rs756379040 MMEL1 Nonsynonymous SNV M695V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 169676 chr2 95847275 95847275 G C rs754113041 ZNF2 Synonymous SNV V154V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 169677 chr15 45391661 45391661 G A rs150893514 DUOX2 Synonymous SNV H1145H 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 6.498 169678 chr1 2706253 2706253 C G TTC34 Nonsynonymous SNV R481S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.366 169679 chr14 89747334 89747334 C G rs780891080 FOXN3 Synonymous SNV P235P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 169680 chr3 192994566 192994566 G A rs745944109 ATP13A5 Synonymous SNV T1123T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.524 169681 chr3 101540265 101540265 T C rs368322476 NXPE3 Synonymous SNV L314L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.965 169682 chr3 33877613 33877613 C T PDCD6IP Synonymous SNV I309I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.12 169683 chr20 1187535 1187536 AG - rs529757520 C20orf202 L55Pfs*73 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 169684 chr15 56756414 56756414 T G rs375221907 MNS1 Nonsynonymous SNV E12A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 169685 chr2 209136280 209136280 T C rs749616889 PIKFYVE Nonsynonymous SNV S13P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 14.21 169686 chr3 195013145 195013145 G A rs143295502 ACAP2 Nonsynonymous SNV S601L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.35 169687 chr1 32207795 32207795 C T rs368618419 ADGRB2 Nonsynonymous SNV G426S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 169688 chr1 32827085 32827085 G A rs551134209 FAM229A Synonymous SNV P111P 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 10.33 169689 chr1 33430102 33430102 T G rs113840389 RNF19B Nonsynonymous SNV Q62P 0.007 0.005 0.014 6 8 2 0.015 4 4 1 2 3 6.343 169690 chr3 195943590 195943590 C T rs201745104 SLC51A Nonsynonymous SNV P3S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 169691 chr14 96778442 96778442 A C rs148838490 ATG2B Synonymous SNV T1299T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 169692 chr15 65694803 65694803 C T rs138636327 IGDCC4 Nonsynonymous SNV V196I 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 24 169693 chr2 219677004 219677004 C T rs59443548 CYP27A1 Nonsynonymous SNV A169V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 14.46 169694 chr15 73076197 73076197 G C rs146500013 ADPGK-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.438 169695 chr3 44816851 44816851 C T rs760755440 KIF15 Synonymous SNV S56S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 169696 chr20 25450678 25450678 C G NINL Nonsynonymous SNV G752A 0 0.008 0 0 0 3 0 0 0 0 0 0 15.08 169697 chr2 220136029 220136029 C T rs771343298 TUBA4B Nonsynonymous SNV P112S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.86 169698 chr1 41847872 41847872 - GCCCGCGCCGGGACGCCCGCCTACTTCGGCGGCTGCAAGGGCGGCGCCTACGGCGGGGGCGGGGGCTTCGGGCCGCCGGCGATGGGCGCTCTGCGCCGTCTGCCCATGCAGACCATCCAGGAGAACAAGCAGGCCAGCTTCGTGCCGGCCGCGGCGCCCTTCCGCCCTGGGGCGCTGCCCGCGCTGCTGCCGCCGCCGCC FOXO6 Frameshift insertion Q337Gfs*224 0.007 0 0 2 8 0 0.005 0 4 0 0 1 169699 chr3 38835500 38835500 A G rs749292402 SCN10A Star tloss M1? 0.006 0 0 1 7 0 0.003 0 0 0 0 0 25.4 169700 chr15 76467721 76467721 G A rs768439551 LOC101929439 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 169701 chr2 232325393 232325393 T C rs147245704 NCL Synonymous SNV E266E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 169702 chr20 33872215 33872215 C A rs1802241 EIF6 Nonsynonymous SNV V26L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.7 169703 chr15 83395254 83395254 G C rs10468219 ACTG1P17 0 0 0.027 0 0 0 0 8 0 0 0 0 2.85 169704 chr3 42955899 42955899 T G rs149596515 ZNF662 Nonsynonymous SNV S138A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.01 169705 chr19 1456122 1456122 G A rs80142793 APC2 Synonymous SNV A228A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.66 169706 chr3 129247937 129247937 G A rs771637224 RHO Nonsynonymous SNV G121S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 169707 chr2 238735929 238735929 G A rs571893965 RBM44 Nonsynonymous SNV G830D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.34 169708 chr3 50326309 50326309 A G rs149865169 IFRD2 Synonymous SNV T379T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.753 169709 chr15 86822931 86822931 C A AGBL1 Nonsynonymous SNV L713I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 169710 chr3 45515797 45515797 C A rs768754342 LARS2 Nonsynonymous SNV H271Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 169711 chr20 43836895 43836898 AGAG - SEMG1 E320Kfs*10 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 169712 chr3 133191276 133191276 G A rs576771761 BFSP2 Nonsynonymous SNV E371K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 169713 chr3 134323231 134323231 C T KY Synonymous SNV L376L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.101 169714 chr20 44673620 44673620 G A SLC12A5 Synonymous SNV V493V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.015 169715 chr15 90319785 90319785 C G rs71647809 MESP2 Nonsynonymous SNV A66G 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 Benign 7.496 169716 chr1 55505553 55505558 CTGCTG - rs778382130 PCSK9 L22_L23del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 169717 chr3 47452151 47452162 CCCCAGCCCCAT - rs748695676 PTPN23 Q834_P837del 0.001 0 0 0 1 0 0 0 0 0 0 0 169718 chr2 242157692 242157692 C A rs199499943 ANO7 Synonymous SNV R739R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 22.3 169719 chr15 90349748 90349748 C T rs766949181 ANPEP Nonsynonymous SNV V23M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.067 169720 chr2 242499114 242499114 C G BOK Synonymous SNV R72R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 169721 chr15 90768312 90768312 G T rs374033545 SEMA4B Nonsynonymous SNV R298L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 169722 chr3 48508544 48508544 C T rs78218009 TREX1 Stop gain R154X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 35 169723 chr3 48559436 48559436 G A rs200139068 PFKFB4 Nonsynonymous SNV H410Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 169724 chr3 48716088 48716088 G T rs140072076 NCKIPSD Nonsynonymous SNV P625Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.946 169725 chr3 48631002 48631002 G A rs777371275 COL7A1 Synonymous SNV L132L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.877 169726 chr3 49152513 49152513 T C rs370597152 USP19 Nonsynonymous SNV Y571C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 169727 chr3 57902836 57902836 T C rs763159495 SLMAP Nonsynonymous SNV M257T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.65 169728 chr3 58095400 58095400 C T rs758045039 FLNB Nonsynonymous SNV T766M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 169729 chr3 49843636 49843636 C T rs192319446 MIR5193 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.625 169730 chr3 51418978 51418978 - GGGGAGCAGTGAGGGGCAAC rs755361444 DOCK3 Stop gain R2027_G2028delinsRGEQX 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169731 chr3 51929055 51929055 A C rs779561048 IQCF1 Nonsynonymous SNV Y157D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 169732 chr15 50785097 50785099 GAT - USP8 D707del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 169733 chr3 154836554 154836554 G C rs147564881 MME Nonsynonymous SNV G225A 0.005 0 0.014 2 6 0 0.005 4 0 0 0 0 Likely benign 24.6 169734 chr2 27900786 27900786 A G SLC4A1AP Synonymous SNV L586L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.561 169735 chr3 52819193 52819193 G A rs763101480 ITIH1 Nonsynonymous SNV R226H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 169736 chr15 55497820 55497820 C T rs141362723 RAB27A Nonsynonymous SNV R184Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 29.9 169737 chr16 1397893 1397893 A T BAIAP3 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 169738 chr20 60511994 60511994 A C CDH4 Nonsynonymous SNV E878A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 169739 chr3 97596879 97596879 G A rs149984020 CRYBG3 Nonsynonymous SNV E2281K 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 12.37 169740 chr3 53857803 53857803 A T CHDH Nonsynonymous SNV L78H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 169741 chr1 75172811 75172817 AAGACTC - rs748661000 CRYZ L97Ffs*8 0.003 0 0 1 3 0 0.003 0 0 0 0 0 169742 chr15 62208216 62208216 T G rs144395823 VPS13C Synonymous SNV T2644T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.742 169743 chr3 58134404 58134404 C T rs112942586 FLNB Synonymous SNV G1948G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.05 169744 chr19 8397910 8397910 G A rs142931419 KANK3 Nonsynonymous SNV L642F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.9 169745 chr16 2015432 2015432 C T rs1054002 SNHG9 0 0 0.017 0 0 0 0 5 0 0 0 0 8.775 169746 chr16 2026219 2026219 G A TBL3 Nonsynonymous SNV S399N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 169747 chr20 62200604 62200604 G A rs147919045 HELZ2 Nonsynonymous SNV R329C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.86 169748 chr16 2293225 2293225 C T rs370584096 ECI1 Stop gain W188X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 169749 chr3 97595443 97595443 T A CRYBG3 Nonsynonymous SNV V1802E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.542 169750 chr16 2511034 2511034 C G rs780280173 TEDC2 Synonymous SNV P138P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.412 169751 chr3 98536695 98536695 T C rs770898952 DCBLD2 Nonsynonymous SNV Y377C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 169752 chr2 38975265 38975265 T G rs539664765 SRSF7 Nonsynonymous SNV I166L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.7 169753 chr3 9985750 9985750 C G rs41276501 CRELD1 Nonsynonymous SNV Q409E 0.008 0.003 0.003 1 9 1 0.003 1 0 0 0 0 Likely benign 9.218 169754 chr3 193272447 193272452 GTGTGT - ATP13A4-AS1 0.005 0.003 0 0 6 1 0 0 0 0 0 0 169755 chr4 100574932 100574932 A C C4orf54 Nonsynonymous SNV S292A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.33 169756 chr3 195516350 195516350 C T rs139285983 MUC4 Nonsynonymous SNV G701R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.239 169757 chr15 79748853 79748853 T C rs750333484 MINAR1 Nonsynonymous SNV C122R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.552 169758 chr20 10629302 10629302 G A rs374629171 JAG1 Synonymous SNV I488I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 15.62 169759 chr4 107154198 107154198 A G rs149535149 TBCK Synonymous SNV C449C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.459 169760 chr4 111434572 111434572 G A rs34949711 ENPEP Nonsynonymous SNV R437H 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 20.3 169761 chr4 146806944 146806944 C T rs368474421 ZNF827 Nonsynonymous SNV A545T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.59 169762 chr3 25611313 25611313 T C rs146549207 RARB Synonymous SNV Y171Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.675 169763 chr2 65298835 65298835 C T CEP68 Nonsynonymous SNV S202F 0.002 0 0 0 2 0 0 0 0 0 0 0 23 169764 chr2 67624665 67624665 G A rs202103721 ETAA1 Nonsynonymous SNV V29M 0.003 0 0 0 3 0 0 0 0 0 0 0 18.73 169765 chr19 13320185 13320185 C T rs755749925 CACNA1A Nonsynonymous SNV R2157H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 25.1 169766 chr19 14748917 14748917 C A ADGRE3 Nonsynonymous SNV R369L 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 169767 chr4 125592998 125592998 A G rs148692771 ANKRD50 Synonymous SNV N299N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 169768 chr16 56660640 56660640 C G rs189645232 MT1E Nonsynonymous SNV N97K 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 6.042 169769 chr4 128743981 128743981 G A rs761633831 HSPA4L Nonsynonymous SNV V583I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 169770 chr15 90349662 90349662 C T rs370108152 ANPEP Synonymous SNV P51P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.01 169771 chr20 25656540 25656540 A T rs183453408 ZNF337 Nonsynonymous SNV C462S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24 169772 chr3 42751187 42751187 C T rs57780787 CCDC13 Synonymous SNV E659E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.78 169773 chr3 42788823 42788823 C A rs73829283 CCDC13 Nonsynonymous SNV A216S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 22.9 169774 chr3 42906600 42906600 T C rs3732859 ACKR2 Synonymous SNV H202H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.002 169775 chr16 597411 597411 C T rs371770669 CAPN15 Synonymous SNV A191A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.87 169776 chr4 146018477 146018477 T C rs33919722 ANAPC10 Nonsynonymous SNV T4A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.292 169777 chr4 146030326 146030326 A T rs139255095 ABCE1 Synonymous SNV G110G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.565 169778 chr4 146044417 146044417 C T rs34070877 ABCE1 Synonymous SNV C475C 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 Benign 8.504 169779 chr16 67235321 67235321 C T rs765179389 ELMO3 Nonsynonymous SNV R260C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 169780 chr16 67314074 67314074 G T rs370443979 PLEKHG4 Nonsynonymous SNV V43F 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 10.92 169781 chr16 67991872 67991872 G A rs368124264 SLC12A4 Nonsynonymous SNV R142W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 169782 chr20 33330619 33330619 T C rs754399837 NCOA6 Synonymous SNV P1147P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.134 169783 chr4 15688881 15688881 C T rs778428134 FAM200B Nonsynonymous SNV A94V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 169784 chr4 159161483 159161483 A T rs62335898 TMEM144 Nonsynonymous SNV I239F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.1 169785 chr4 187629785 187629787 CCT - FAT1 R399del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169786 chr3 101039191 101039191 T G IMPG2 Nonsynonymous SNV K9T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.1 169787 chr16 75033953 75033953 A G rs753245714 ZNRF1 Synonymous SNV L128L 0 0 0.003 0 0 0 0 1 0 0 0 0 17 169788 chr3 49695401 49695401 C T rs201490455 BSN Synonymous SNV H2804H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 6.465 169789 chr16 81248634 81248634 T C rs372341728 PKD1L2 Nonsynonymous SNV N210S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 169790 chr16 82033600 82033600 C T rs201424944 SDR42E1 Nonsynonymous SNV V100I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.465 169791 chr3 50471808 50471808 T C CACNA2D2 Nonsynonymous SNV K114R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.11 169792 chr3 51411965 51411965 C T rs778887520 DOCK3 Nonsynonymous SNV R1787W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 169793 chr3 51909691 51909691 G A IQCF5-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.682 169794 chr4 185074883 185074883 C T rs142786439 ENPP6 Nonsynonymous SNV R82H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.7 169795 chr3 52820991 52820991 C T ITIH1 Synonymous SNV N300N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.631 169796 chr16 86585736 86585736 C A rs762208272 MTHFSD Nonsynonymous SNV C47F 0 0 0.003 0 0 0 0 1 0 0 0 0 29 169797 chr16 87743222 87743222 C T rs370744310 KLHDC4 Nonsynonymous SNV E309K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.71 169798 chr16 1825937 1825937 G A rs779930109 EME2 Nonsynonymous SNV V307M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.76 169799 chr4 3076606 3076606 - CAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQ 0.003 0 0 2 3 0 0.005 0 0 0 0 0 169800 chr3 12641689 12641689 G A rs759433668 RAF1 Nonsynonymous SNV R204W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.3 169801 chr3 58112453 58112453 G A rs766688604 FLNB Nonsynonymous SNV D1396N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 27.3 169802 chr16 1996954 1996954 C T rs139391846 RPL3L Synonymous SNV T278T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 169803 chr3 58520814 58520814 C T rs755275922 ACOX2 Nonsynonymous SNV R7Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.6 169804 chr3 64526862 64526862 G T rs140385164 ADAMTS9 Synonymous SNV R1782R 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 0.81 169805 chr3 64526863 64526863 C T rs149060903 ADAMTS9 Nonsynonymous SNV R1782H 0.007 0.003 0.003 0 8 1 0 1 0 0 0 0 22.8 169806 chr4 52943070 52943070 A G rs372381968 SPATA18 Nonsynonymous SNV N70S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 169807 chr16 2374485 2374485 C T rs145087575 ABCA3 Nonsynonymous SNV D123N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.58 169808 chr3 69267527 69267527 A G rs35202077 FRMD4B Synonymous SNV Y245Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.547 169809 chr3 97592299 97592299 A T CRYBG3 Nonsynonymous SNV H754L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.467 169810 chr3 97596606 97596606 G A rs768639623 CRYBG3 Nonsynonymous SNV V2190I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 169811 chr16 3613136 3613136 C T rs138457262 NLRC3 Nonsynonymous SNV R601H 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 13.01 169812 chr4 4304458 4304458 A G ZBTB49 Nonsynonymous SNV K299E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 169813 chr20 60639883 60639883 T C rs1886009 TAF4 Synonymous SNV Q328Q 0.002 0 0 2 2 0 0.005 0 1 0 0 1 5.259 169814 chr16 3614909 3614909 C T rs145459238 NLRC3 Synonymous SNV P43P 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 9.102 169815 chr16 3639058 3639058 C T rs78635099 SLX4 Synonymous SNV P1527P 0.009 0.008 0.007 4 11 3 0.01 2 0 0 0 0 Benign/Likely benign 10.51 169816 chr16 3639856 3639856 C T rs77699867 SLX4 Synonymous SNV P1261P 0.009 0.008 0.003 4 11 3 0.01 1 0 0 0 0 Benign 10.2 169817 chr16 3640715 3640715 G A rs114472821 SLX4 Nonsynonymous SNV P975L 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.216 169818 chr16 3646275 3646275 C T rs144892556 SLX4 Synonymous SNV S601S 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 Benign/Likely benign 12.43 169819 chr16 3646323 3646323 G A rs114016359 SLX4 Synonymous SNV P585P 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.706 169820 chr16 3650990 3650990 G T rs115694169 SLX4 Nonsynonymous SNV P385T 0.009 0.008 0.007 4 10 3 0.01 2 0 0 0 0 Benign/Likely benign 0.029 169821 chr4 38940116 38940116 A T rs150017141 FAM114A1 Nonsynonymous SNV T315S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.842 169822 chr4 6615985 6615985 C T rs142208146 MAN2B2 Synonymous SNV A817A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 169823 chr16 4801656 4801656 T C rs1010350042 ZNF500 Nonsynonymous SNV H434R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.244 169824 chr16 4827992 4827992 G C rs762397615 SEPTIN12 Nonsynonymous SNV L249V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 169825 chr20 61525536 61525536 G T DIDO1 Synonymous SNV P861P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.281 169826 chr4 74302011 74302011 T C rs372320842 AFP Nonsynonymous SNV F11S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.5 169827 chr20 62119747 62119747 C T rs200259257 EEF1A2 Synonymous SNV T432T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign/Likely benign 12.64 169828 chr4 6578326 6578326 G C rs145563570 MAN2B2 Nonsynonymous SNV A54P 0.003 0 0.007 0 3 0 0 2 0 0 1 0 24.7 169829 chr17 19284713 19284713 A G rs2233076 MAPK7 Synonymous SNV Q258Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.21 169830 chr4 57899403 57899403 G T IGFBP7 Synonymous SNV T220T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 10.59 169831 chr4 77700253 77700253 A G rs61741100 SHROOM3 Nonsynonymous SNV N1972D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.004 169832 chr3 153905482 153905482 T C rs769397878 ARHGEF26 Nonsynonymous SNV I499T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.64 169833 chr3 154021188 154021188 T C rs754937391 DHX36 Nonsynonymous SNV M383V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.52 169834 chr4 79308598 79308598 A G rs745952823 FRAS1 Nonsynonymous SNV M1240V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.924 169835 chr19 43991217 43991217 C T rs138387298 PHLDB3 Nonsynonymous SNV S403N 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.49 169836 chr4 119948059 119948059 G A rs17050152 SYNPO2 Nonsynonymous SNV A179T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 0.007 169837 chr22 47311582 47311582 A G rs747107805 TBC1D22A-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.361 169838 chr16 22092093 22092093 A G rs991348071 MOSMO Synonymous SNV K132K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.07 169839 chr3 142772613 142772613 G A rs1050642221 U2SURP Synonymous SNV E508E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 169840 chr17 2232719 2232719 A G TSR1 Synonymous SNV P607P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.406 169841 chr3 170110169 170110169 G C SKIL Synonymous SNV L627L 0.005 0 0 0 6 0 0 0 0 0 0 0 7.758 169842 chr17 26988754 26988754 G C SDF2 Synonymous SNV R47R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.29 169843 chr17 27434133 27434133 G A MYO18A Nonsynonymous SNV H1136Y 0 0 0.007 0 0 0 0 2 0 0 0 0 13.55 169844 chr2 100020260 100020260 C T REV1 Nonsynonymous SNV A1021T 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 34 169845 chr19 44981043 44981043 C T rs780470362 ZNF180 Nonsynonymous SNV S527N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 169846 chr17 30806308 30806308 A G rs771862489 PSMD11 Nonsynonymous SNV I318V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.63 169847 chr4 96069919 96069919 T C rs1025931662 BMPR1B Nonsynonymous SNV I366T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 28.4 169848 chr16 30780861 30780861 C T rs142343572 RNF40 Synonymous SNV L742L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.27 169849 chr17 34923502 34923502 A G GGNBP2 Synonymous SNV G176G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 169850 chr16 46771808 46771808 A G rs55889699 MYLK3 Synonymous SNV N272N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 169851 chr5 107717003 107717003 A G FBXL17 Synonymous SNV A130A 0.005 0 0 0 6 0 0 0 0 0 0 0 0.086 169852 chr2 110049080 110049080 C G rs750617884 SH3RF3 Synonymous SNV T509T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.74 169853 chr2 111562932 111562932 C T rs149961196 ACOXL Nonsynonymous SNV S238L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 169854 chr4 98902414 98902414 C T rs150708038 STPG2 Nonsynonymous SNV R223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 169855 chr16 57206205 57206205 C T rs180702754 PSME3IP1 Synonymous SNV K102K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.08 169856 chr5 1085502 1085502 G A rs115061051 SLC12A7 Synonymous SNV Y254Y 0.005 0.003 0.003 5 6 1 0.013 1 1 0 0 0 6.534 169857 chr4 951693 951693 G A rs201039051 TMEM175 Synonymous SNV P226P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.55 169858 chr2 119604518 119604518 G T rs185308608 EN1 Nonsynonymous SNV P76T 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.374 169859 chr21 46271340 46271340 T C PTTG1IP Nonsynonymous SNV D124G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.754 169860 chr16 67234378 67234378 C A rs763962241 ELMO3 Nonsynonymous SNV S146R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.75 169861 chr19 49442940 49442940 G A rs76719621 DHDH Nonsynonymous SNV G201R 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 25.1 169862 chr5 132083508 132083508 C T rs146606480 CCNI2 Synonymous SNV S107S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12.34 169863 chr3 193272736 193272736 C T rs544536261 ATP13A4-AS1 0.006 0 0 2 7 0 0.005 0 0 0 0 0 17.61 169864 chr2 128409126 128409126 C T rs774720883 GPR17 Nonsynonymous SNV R273C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 169865 chr17 40342868 40342868 A C rs148094834 GHDC Nonsynonymous SNV V379G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 169866 chr5 122425899 122425899 C G rs113582737 PRDM6 Nonsynonymous SNV P64A 0.006 0 0 0 7 0 0 0 0 0 0 0 14.4 169867 chr2 128945049 128945049 G A rs112061065 UGGT1 Synonymous SNV P1501P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.6 169868 chr17 41001713 41001713 C A rs141066496 AOC2 Nonsynonymous SNV A630D 0 0 0.01 0 0 0 0 3 0 0 0 0 22.3 169869 chr4 25125849 25125849 - GGCTCCA SEPSECS 0.001 0 0 0 1 0 0 0 0 0 0 0 169870 chr5 140187420 140187420 T G PCDHA4 Nonsynonymous SNV D216E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 169871 chr4 3251096 3251096 C T rs147328965 MSANTD1 Synonymous SNV A49A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.55 169872 chr5 140250076 140250076 T C rs781889223 PCDHA11 Nonsynonymous SNV V463A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 169873 chr2 152484122 152484122 T C rs368224713 NEB Nonsynonymous SNV Y3110C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 169874 chr4 39000475 39000475 T C rs35576563 TMEM156 Nonsynonymous SNV Y48C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.9 169875 chr5 140075431 140075431 G A rs863224040 HARS2 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 27.4 169876 chr4 39511399 39511399 C T rs116145557 UGDH Synonymous SNV K197K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 169877 chr5 140730959 140730959 G C rs767660547 PCDHGB1 Nonsynonymous SNV V378L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22 169878 chr4 40104051 40104051 A G rs10014170 N4BP2 Nonsynonymous SNV M196V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 169879 chr5 140736152 140736152 C G rs11575950 PCDHGA4 Nonsynonymous SNV P493R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 8.203 169880 chr16 82197754 82197754 C G MPHOSPH6 Nonsynonymous SNV E33Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 169881 chr17 4805354 4805354 C T rs1056080125 CHRNE Nonsynonymous SNV D125N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 169882 chr22 24041285 24041285 T C rs778810291 RGL4 Synonymous SNV Y576Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.011 169883 chr2 162757481 162757481 C A rs575906578 SLC4A10 Nonsynonymous SNV H389N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.39 169884 chr22 25331451 25331451 C T rs34889393 TMEM211 Nonsynonymous SNV G80D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.6 169885 chr22 25597369 25597369 G A rs144393956 CRYBB3 Synonymous SNV A2A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.936 169886 chr22 25603018 25603018 G A rs4455261 CRYBB3 Nonsynonymous SNV V159I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 29.8 169887 chr16 84691223 84691223 C G rs145947799 KLHL36 Synonymous SNV A270A 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 12.49 169888 chr4 48096101 48096101 A G rs73151620 TXK Synonymous SNV N234N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.495 169889 chr4 48114506 48114506 C T rs34199613 TXK Synonymous SNV P66P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 169890 chr3 40085754 40085754 G A rs143190306 MYRIP Nonsynonymous SNV S65N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.316 169891 chr4 54362537 54362549 CATTGCTGATGTC - LNX1 D235Sfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 169892 chr5 14713225 14713225 G A rs1037756800 LOC100130744 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 169893 chr17 57092975 57092975 A G TRIM37 Synonymous SNV L704L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.246 169894 chr17 58303573 58303573 A G rs200478675 USP32 Nonsynonymous SNV I420T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 169895 chr2 170163827 170163827 T C rs34592807 LRP2 Nonsynonymous SNV R131G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 0.245 169896 chr5 149677472 149677472 G A rs149628658 ARSI Nonsynonymous SNV R339W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 169897 chr16 88952612 88952612 G A LOC101927793 0.001 0 0 0 1 0 0 0 0 0 0 0 6.435 169898 chr17 6380424 6380424 G A rs368003216 PITPNM3 Nonsynonymous SNV P301L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.7 169899 chr17 6428747 6428747 C T PITPNM3 Nonsynonymous SNV G52E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 169900 chr2 179395752 179395752 C T rs397517796 TTN Nonsynonymous SNV G26132D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 20 169901 chr5 154395311 154395311 G C rs778653406 KIF4B Nonsynonymous SNV R631P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.016 169902 chr17 67031857 67031857 C T rs146264007 ABCA9 Nonsynonymous SNV V296I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.008 169903 chr5 159820986 159820986 G T ZBED8 Synonymous SNV I504I 0.003 0 0 0 4 0 0 0 0 0 0 0 3.98 169904 chr17 1629045 1629045 C A rs369912090 WDR81 Synonymous SNV L264L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.27 169905 chr17 1630304 1630304 A C rs748793270 WDR81 Nonsynonymous SNV Q684P 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 0.001 169906 chr5 167645234 167645234 C A rs185690268 TENM2 Synonymous SNV V1207V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.38 169907 chr4 75040302 75040302 G A MTHFD2L Nonsynonymous SNV V75I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 169908 chr3 49761139 49761139 C A GMPPB Synonymous SNV V7V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.32 169909 chr2 179645902 179645902 C T rs397517566 TTN Nonsynonymous SNV V1111I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 21.3 169910 chr17 71819898 71819898 G A rs564820789 LINC00469 0 0 0.003 0 0 0 0 1 0 0 0 0 7.29 169911 chr22 41728205 41728205 G A rs148237320 ZC3H7B Nonsynonymous SNV G186S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 20.4 169912 chr17 7230058 7230058 C T NEURL4 Nonsynonymous SNV R355H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 169913 chr5 176308794 176308794 A G rs148952210 HK3 Synonymous SNV L764L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 169914 chr5 176823782 176823782 T A rs140649226 SLC34A1 Nonsynonymous SNV V408E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 169915 chr3 5252897 5252897 A T rs373439438 EDEM1 Nonsynonymous SNV Y559F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.4 169916 chr17 4642683 4642683 C T rs75334328 CXCL16 Synonymous SNV G3G 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Benign 11.15 169917 chr22 46345837 46345837 G A rs147267470 WNT7B Synonymous SNV L87L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.73 169918 chr4 8584320 8584320 G T rs201754764 GPR78 Nonsynonymous SNV G244V 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 12.83 169919 chr4 87622855 87622855 C G rs533555920 PTPN13 Nonsynonymous SNV R366G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 169920 chr5 169020522 169020522 A G rs149500983 SPDL1 Synonymous SNV Q167Q 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 0.759 169921 chr5 169081453 169081453 G C rs141894939 DOCK2 Nonsynonymous SNV Q30H 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Likely benign 14.07 169922 chr5 170236616 170236616 C T rs79997355 GABRP Nonsynonymous SNV R293C 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 35 169923 chr5 171639085 171639085 A G rs370023635 UBTD2 Nonsynonymous SNV C152R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 18.48 169924 chr5 175815341 175815341 G A NOP16 Nonsynonymous SNV P13L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.09 169925 chr4 115544472 115544472 G A rs141691690 UGT8 Nonsynonymous SNV V146M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 169926 chr3 9781465 9781465 A G rs781638484 BRPF1 Nonsynonymous SNV H461R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 5.841 169927 chr17 7350875 7350875 C G rs201033437 CHRNB1 Stop gain Y172X 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 36 169928 chr5 176824981 176824981 G A rs750648561 SLC34A1 Stop gain W538X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 40 169929 chr2 100081430 100081430 C G REV1 Nonsynonymous SNV R3P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 169930 chr17 7989341 7989341 C A rs368442508 ALOX12B Nonsynonymous SNV E115D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 169931 chr5 32712452 32712452 C T NPR3 Synonymous SNV A190A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.76 169932 chr20 5294958 5294958 G - rs587777834 PROKR2 H20Mfs*24 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 169933 chr5 115298968 115298968 G A rs149202659 LVRN Synonymous SNV E218E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.68 169934 chr20 9440332 9440332 T C rs754831082 PLCB4 Synonymous SNV N1029N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.724 169935 chr5 115823864 115823864 G A SEMA6A Synonymous SNV Y228Y 0.003 0 0 0 3 0 0 0 0 0 0 0 7.971 169936 chr17 7916488 7916488 C A rs140628227 GUCY2D Synonymous SNV G727G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 13.79 169937 chr17 8784042 8784042 G A rs62620227 PIK3R5 Nonsynonymous SNV P467S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 169938 chr2 103067438 103067438 A T rs55783351 IL18RAP Synonymous SNV G447G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.031 169939 chr20 16025279 16025279 T A rs139092334 MACROD2 Nonsynonymous SNV L197Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 21 169940 chr17 79650730 79650730 C T rs375089359 ARL16 Synonymous SNV R42R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.84 169941 chr5 54566424 54566424 C T rs754591848 DHX29 Nonsynonymous SNV R941Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 169942 chr17 80011890 80011890 C T rs148147539 GPS1 Synonymous SNV Y91Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 169943 chr17 10542472 10542472 C T rs142002449 MYH3 Nonsynonymous SNV R1046Q 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 169944 chr5 56160644 56160644 C T rs753695615 MAP3K1 Synonymous SNV R306R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.09 169945 chr17 8076887 8076887 G A rs545394298 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.86 169946 chr5 43655961 43655961 C T NNT Synonymous SNV R562R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.42 169947 chr5 31429629 31429629 G A rs61751195 DROSHA Synonymous SNV L1020L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.24 169948 chr5 132160870 132160870 G A rs139775323 SHROOM1 Synonymous SNV T321T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 7.591 169949 chr5 66492418 66492418 A G rs746049290 CD180 Nonsynonymous SNV C18R 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.3 169950 chr5 71491924 71491924 C T rs768947518 MAP1B Synonymous SNV P788P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.32 169951 chr2 128238742 128238742 T C IWS1 Nonsynonymous SNV T780A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.31 169952 chr2 225721677 225721677 C T rs147752392 DOCK10 Nonsynonymous SNV G564R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 169953 chr2 136437880 136437880 A G rs377642723 R3HDM1 Synonymous SNV Q652Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 4.753 169954 chr18 31324007 31324007 G A rs749326211 ASXL3 Nonsynonymous SNV D1399N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 169955 chr5 7862961 7862961 C G rs776670447 FASTKD3 Synonymous SNV V558V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.4 169956 chr4 184207192 184207192 C T rs148189381 WWC2 Nonsynonymous SNV R1041C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.8 169957 chr20 42972071 42972071 C T rs139629911 R3HDML Synonymous SNV Y145Y 0 0 0 2 0 0 0.005 0 0 0 0 0 1.01 169958 chr20 43090584 43090584 G A rs180762562 LINC01620 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 3.922 169959 chr20 43248989 43248989 A C ADA Synonymous SNV L208L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 169960 chr5 59895019 59895019 T C rs145134792 DEPDC1B Synonymous SNV P437P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.627 169961 chr18 43253719 43253719 A G SLC14A2 Nonsynonymous SNV I817V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 169962 chr18 44030328 44030328 A G rs768827036 RNF165 Nonsynonymous SNV S37G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.9 169963 chr20 44463752 44463752 C T rs45528233 SNX21 Synonymous SNV Y148Y 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 15.44 169964 chr4 187510355 187510355 T G rs201618936 FAT1 Synonymous SNV S4386S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.75 169965 chr17 34257098 34257098 A - rs777218695 RDM1 Q64Rfs*23 0.004 0 0 0 5 0 0 0 0 0 0 0 169966 chr5 71516958 71516958 A C MRPS27 Synonymous SNV L285L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.04 169967 chr2 160139542 160139542 G A rs146770465 WDSUB1 Synonymous SNV D13D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.271 169968 chr2 237246935 237246935 G A rs888260791 IQCA1 Nonsynonymous SNV R642C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 169969 chr4 265838 265838 T C rs782814915 ZNF732 Nonsynonymous SNV R270G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 169970 chr20 49219173 49219173 T C rs765984645 RIPOR3 Synonymous SNV L365L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.078 169971 chr4 289827 289827 T C rs782238744 ZNF732 Nonsynonymous SNV I41V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 169972 chr18 5840734 5840734 G A rs976513575 MIR3976 0 0 0.003 0 0 0 0 1 0 0 0 0 6.938 169973 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169974 chr2 1639264 1639264 G A rs781720396 PXDN Synonymous SNV T1412T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.85 169975 chr2 165996020 165996020 C T rs143450450 SCN3A Synonymous SNV V657V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 14.12 169976 chr17 38548548 38548548 G A rs778291076 TOP2A Nonsynonymous SNV S1337L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.5 169977 chr4 36126509 36126509 C T rs554161091 ARAP2 Nonsynonymous SNV A1241T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 169978 chr17 38978703 38978703 T C rs150048434 KRT10 Synonymous SNV G45G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.017 169979 chr6 109763818 109763819 CA - SMPD2 Q161Vfs*38 0.001 0 0 1 1 0 0.003 0 0 0 0 0 169980 chr18 669100 669100 G C TYMS Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.091 169981 chr6 11011029 11011029 G C ELOVL2 Nonsynonymous SNV A6G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.73 169982 chr6 110777829 110777829 C G rs200786259 SLC22A16 Nonsynonymous SNV D149H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.18 169983 chr18 72998124 72998124 G A rs79904500 TSHZ1 Synonymous SNV A254A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.35 169984 chr6 110777830 110777830 A T rs201946912 SLC22A16 Stop gain C148X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 169985 chr5 159707679 159707679 T A rs184397934 CCNJL Nonsynonymous SNV I45F 0.004 0.005 0 0 5 2 0 0 0 0 0 0 23 169986 chr5 94784082 94784082 T C rs148203459 FAM81B Nonsynonymous SNV M380T 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.002 169987 chr2 179567331 179567331 C T rs201635835 TTN Nonsynonymous SNV A8851T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.5 169988 chr20 62050979 62050979 G A rs368720575 KCNQ2 Nonsynonymous SNV R432C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 26.8 169989 chr6 121624817 121624817 C G rs374800522 TBC1D32 Synonymous SNV P342P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.63 169990 chr6 10529953 10529953 - A GCNT2 Frameshift insertion R271Kfs*5 0.003 0.003 0 0 4 1 0 0 0 0 0 0 169991 chr5 171534847 171534847 C A STK10 Nonsynonymous SNV G177V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 169992 chr17 40939343 40939343 T C rs55879206 WNK4 Synonymous SNV R172R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.28 169993 chr17 40997937 40997937 C T rs62001927 AOC2 Synonymous SNV L432L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.924 169994 chr6 132198206 132198206 T C rs199890118 ENPP1 Nonsynonymous SNV Y600H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 4.302 169995 chr5 176831266 176831266 G T F12 Nonsynonymous SNV P317T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.24 169996 chr5 176831267 176831267 C A F12 Nonsynonymous SNV M316I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.069 169997 chr19 1057947 1057949 CTT - rs779980536 ABCA7 F1641del 0 0 0.003 0 0 0 0 1 0 0 0 0 169998 chr6 11191368 11191368 G T rs774818140 NEDD9 Nonsynonymous SNV P96H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 169999 chr6 11213566 11213566 G T rs34265420 NEDD9 Nonsynonymous SNV P136Q 0.007 0.005 0.007 2 8 2 0.005 2 0 0 0 0 26.1 170000 chr5 179036461 179036461 C A rs201071293 RUFY1 Synonymous SNV R582R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.43 170001 chr5 179045270 179045270 T C rs34431802 HNRNPH1 Synonymous SNV P145P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 0.379 170002 chr6 137468891 137468891 G A rs184626014 IL22RA2 Stop gain R172X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 37 170003 chr21 33756772 33756772 G A rs138891583 URB1 Nonsynonymous SNV T95M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 170004 chr6 148841288 148841288 C T rs567630350 SASH1 Nonsynonymous SNV R251C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 170005 chr6 149862148 149862148 G T PPIL4 Nonsynonymous SNV P84Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 170006 chr6 151203918 151203918 G C MTHFD1L Nonsynonymous SNV K146N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 170007 chr6 146242510 146242510 T G SHPRH Synonymous SNV A1267A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.454 170008 chr6 151670242 151670242 C T AKAP12 Nonsynonymous SNV P134L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 170009 chr21 37741941 37741941 A G rs752528953 MORC3 Nonsynonymous SNV I688V 0 0.005 0 3 0 2 0.008 0 0 0 0 0 1.277 170010 chr4 75937765 75937765 C T rs143267016 PARM1 Synonymous SNV N58N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.947 170011 chr19 1506784 1506784 G A rs757298093 ADAMTSL5 Synonymous SNV P332P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.992 170012 chr19 15289909 15289909 G C rs773203358 NOTCH3 Nonsynonymous SNV H1215Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 170013 chr2 20867122 20867122 - GGCGGCGGC rs563301908 GDF7 G50_R51insGGG 0 0 0 2 0 0 0.005 0 0 0 0 1 170014 chr2 55179795 55179795 C A rs201107064 EML6 Synonymous SNV P1426P 0 0.005 0 0 0 2 0 0 0 0 0 0 14.67 170015 chr2 55253886 55253886 G T rs72912565 RTN4 Nonsynonymous SNV T244K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 170016 chr17 62008740 62008740 G C CD79B Nonsynonymous SNV P25A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 170017 chr6 152655250 152655250 G A rs755451612 SYNE1 Synonymous SNV C4158C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 4.042 170018 chr2 73430005 73430005 T A rs996141169 NOTO Nonsynonymous SNV S71T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.198 170019 chr5 71494322 71494322 G A rs371216590 MAP1B Nonsynonymous SNV D1588N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 170020 chr5 71752322 71752322 T C rs745560582 ZNF366 Nonsynonymous SNV Q478R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 170021 chr2 228197304 228197304 - ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTATGAGTGAAAATGCT MFF A134_V135insIRAVGRLKRERSMSENA 0 0 0 1 0 0 0.003 0 0 0 0 0 170022 chr5 7820766 7820766 T C rs1044941095 ADCY2 Synonymous SNV S1029S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 170023 chr22 22036768 22036768 C T rs150819622 PPIL2 Synonymous SNV L144L 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 14.59 170024 chr2 231406674 231406674 A C rs753425520 SP100 Nonsynonymous SNV E824A 0 0 0 2 0 0 0.005 0 0 0 0 0 19.59 170025 chr2 86697394 86697394 C T rs371780877 KDM3A Synonymous SNV A529A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 170026 chr19 24309138 24309138 T C rs745814836 ZNF254 Synonymous SNV Y27Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 170027 chr19 2833724 2833724 T C rs199798667 ZNF554 Nonsynonymous SNV V164A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.942 170028 chr19 33167752 33167752 T G rs777069518 RGS9BP Nonsynonymous SNV S195A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.98 170029 chr22 26853909 26853909 G A rs560591308 HPS4 Nonsynonymous SNV P619L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.05 170030 chr19 35524543 35524543 G A rs375050816 SCN1B Synonymous SNV S116S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.59 170031 chr19 35613704 35613704 G A rs141515880 FXYD3 Nonsynonymous SNV A45T 0 0 0.007 0 0 0 0 2 0 0 0 0 27.2 170032 chr6 26093125 26093125 G A rs140080192 HFE Nonsynonymous SNV E97K 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 170033 chr6 26123812 26123812 C T rs139980610 H2BC4 Synonymous SNV L107L 0.004 0 0 0 5 0 0 0 0 0 0 0 12.64 170034 chr6 26199163 26199163 A G rs112920691 H2AC7 Synonymous SNV I103I 0.004 0 0 0 5 0 0 0 0 0 0 0 4.463 170035 chr2 238727172 238727172 T C rs748186420 RBM44 Nonsynonymous SNV I538T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.043 170036 chr6 26225547 26225547 C T rs77998438 H3C6 Synonymous SNV Y55Y 0.004 0 0 0 5 0 0 0 0 0 0 0 4.857 170037 chr6 26251932 26251932 G C rs139273319 H2BC9 Synonymous SNV A18A 0.004 0 0 0 5 0 0 0 0 0 0 0 8.606 170038 chr6 26271399 26271399 C T rs146261649 H3C8 Nonsynonymous SNV V72M 0.004 0 0 0 5 0 0 0 0 0 0 0 26.9 170039 chr17 79168672 79168672 C T rs151214434 CEP131 Nonsynonymous SNV R706Q 0.003 0 0 0 3 0 0 0 0 0 0 0 16.92 170040 chr6 106960235 106960235 G A rs369540763 CRYBG1 Nonsynonymous SNV G7S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 170041 chr22 30976109 30976109 T A rs140230829 PES1 Nonsynonymous SNV D362V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.4 170042 chr19 36398437 36398437 A G rs372140827 TYROBP Nonsynonymous SNV V36A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 170043 chr22 32112785 32112785 G A PRR14L Nonsynonymous SNV S347L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.261 170044 chr19 3730701 3730701 G A rs765701125 TJP3 Nonsynonymous SNV E204K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 170045 chr6 34824585 34824585 G A rs200549062 UHRF1BP1 Nonsynonymous SNV R437Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 22.6 170046 chr5 1242961 1242961 G A SLC6A18 Nonsynonymous SNV E372K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 170047 chr5 126776526 126776526 C T rs377728219 MEGF10 Nonsynonymous SNV R777C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 170048 chr5 127277017 127277017 A G rs1032199262 CCDC192 Nonsynonymous SNV K246E 0.003 0 0 0 4 0 0 0 0 0 0 0 15.04 170049 chr6 35265711 35265711 C T rs16874262 DEF6 Synonymous SNV V26V 0.006 0.005 0.014 4 7 2 0.01 4 0 0 0 0 16.92 170050 chr6 35704960 35704960 C T rs376122934 ARMC12 Synonymous SNV A25A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 20.4 170051 chr19 38229650 38229650 - T rs547267383 ZNF573 Frameshift insertion P493Tfs*3 0.009 0.005 0.003 3 10 2 0.008 1 0 0 0 0 170052 chr6 46135638 46135638 G T ENPP5 Nonsynonymous SNV T27K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.317 170053 chr2 26705323 26705323 G A rs150452778 OTOF Synonymous SNV I510I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.19 170054 chr5 143540003 143540003 G A rs375490717 YIPF5 Synonymous SNV C190C 0.007 0 0 1 8 0 0.003 0 0 0 0 0 10.51 170055 chr22 40391100 40391100 G A rs149259541 FAM83F Synonymous SNV V18V 0.007 0.003 0.01 4 8 1 0.01 3 0 0 0 0 11.79 170056 chr22 40797647 40797647 T C rs9611338 SGSM3 Nonsynonymous SNV W20R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Benign 26.7 170057 chr5 145863120 145863120 G A rs777818470 TCERG1 Synonymous SNV T659T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.45 170058 chr18 12097753 12097753 C T rs566353826 ANKRD62 Synonymous SNV Y243Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.671 170059 chr6 46660820 46660820 A G rs143905519 TDRD6 Nonsynonymous SNV D1652G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.7 170060 chr18 12817299 12817299 T C rs754937638 PTPN2 Synonymous SNV E158E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.612 170061 chr22 42306490 42306490 G T rs547460995 SHISA8 Nonsynonymous SNV Q245K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.24 170062 chr6 40999786 40999786 C T rs766917050 UNC5CL Nonsynonymous SNV R347Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.1 170063 chr6 47846874 47846874 C G PTCHD4 Nonsynonymous SNV S569T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.03 170064 chr3 12538040 12538040 A G rs766269585 TSEN2 Nonsynonymous SNV I99V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 18.93 170065 chr5 149264106 149264106 G A rs78775072 PDE6A Nonsynonymous SNV H655Y 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Benign 11.76 170066 chr2 29295030 29295030 C A PCARE Nonsynonymous SNV G700W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 170067 chr18 21723189 21723189 A G CABYR Synonymous SNV A37A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.305 170068 chr2 32396420 32396420 G T rs758094701 SLC30A6 Nonsynonymous SNV R23I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 170069 chr22 46658624 46658624 G A rs372360508 PKDREJ Nonsynonymous SNV S199F 0 0 0 2 0 0 0.005 0 0 0 0 0 0.025 170070 chr6 53787585 53787585 T G rs61734465 LRRC1 Synonymous SNV S523S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.074 170071 chr22 46722434 46722434 G A rs747805494 GTSE1 Nonsynonymous SNV R536Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 170072 chr2 37129865 37129865 G A STRN Nonsynonymous SNV T174I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.1 170073 chr19 42795144 42795144 C T rs201439084 CIC Nonsynonymous SNV P742S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 25.4 170074 chr6 149395120 149395120 A G rs141136305 UST Synonymous SNV G363G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 6.264 170075 chr2 39089387 39089387 C T rs201714064 DHX57 Nonsynonymous SNV V56I 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 18.07 170076 chr2 39944300 39944300 T C rs141827016 TMEM178A Nonsynonymous SNV I86T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.056 170077 chr19 44223960 44223960 T G IRGC Nonsynonymous SNV V417G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.718 170078 chr6 70972993 70972993 T C rs77706858 COL9A1 Nonsynonymous SNV E207G 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign/Likely benign 32 170079 chr19 44376936 44376936 C T rs183038552 ZNF404 Nonsynonymous SNV R474H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.88 170080 chr18 47310224 47310224 G A rs147585440 ACAA2 Nonsynonymous SNV T396I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.69 170081 chr2 46313438 46313438 G A rs74990336 PRKCE Nonsynonymous SNV R510Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.5 170082 chr5 158139328 158139328 G A EBF1 Synonymous SNV N430N 0.002 0 0 0 2 0 0 0 0 0 0 0 7.645 170083 chr5 159546186 159546186 C A rs747466330 PWWP2A Synonymous SNV P70P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.32 170084 chr5 159546187 159546187 G A rs769295767 PWWP2A Nonsynonymous SNV P70L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 170085 chr6 154567884 154567884 C A rs149638978 IPCEF1, OPRM1 Nonsynonymous SNV R408S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.21 170086 chr2 55872535 55872535 T G rs542676905 PNPT1 Nonsynonymous SNV K591Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 18.96 170087 chr6 155450780 155450780 C T rs367738009 TIAM2 Synonymous SNV Y141Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.036 170088 chr5 172110544 172110544 G T NEURL1B Nonsynonymous SNV V52L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 170089 chr2 62069325 62069325 C A rs140622968 FAM161A Nonsynonymous SNV Q118H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 170090 chr6 90402262 90402262 T C rs757088440 MDN1 Nonsynonymous SNV E3496G 0.003 0 0 0 3 0 0 0 0 0 0 0 19.61 170091 chr6 71003886 71003886 G A rs145207010 COL9A1 Nonsynonymous SNV P227L 0.003 0 0 0 4 0 0 0 0 0 0 0 24.7 170092 chr6 96976483 96976483 C T rs147577102 UFL1 Nonsynonymous SNV R191C 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 28 170093 chr3 148601571 148601571 C T rs142588358 CPA3 Nonsynonymous SNV T317I 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 28.6 170094 chr6 72967860 72967860 T C rs370152913 RIMS1 Nonsynonymous SNV S408P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 15.27 170095 chr6 99858828 99858828 T C rs139262827 PNISR Nonsynonymous SNV H97R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.11 170096 chr19 46215779 46215779 G T FBXO46 Nonsynonymous SNV F325L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 170097 chrX 48973434 48973434 T C rs144415491 GPKOW Nonsynonymous SNV Y288C 0.001 0 0.01 4 1 0 0.01 3 0 0 1 1 Likely benign 3.636 170098 chr2 69633171 69633171 C T rs368931176 NFU1 Synonymous SNV L35L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.35 170099 chrX 49093663 49093663 G C rs201443058 CCDC22 Nonsynonymous SNV S54T 0.001 0 0.007 4 1 0 0.01 2 0 0 1 1 Uncertain significance 13.78 170100 chrX 49099873 49099873 G A rs201088755 CCDC22 Nonsynonymous SNV R220Q 0.001 0 0.007 4 1 0 0.01 2 0 0 1 1 Uncertain significance 9.242 170101 chr19 46332413 46332413 C T rs760928961 SYMPK Synonymous SNV L600L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 170102 chr6 7581001 7581001 C A rs28763966 DSP Nonsynonymous SNV N1526K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.188 170103 chr6 7593990 7593990 C T rs9502621 SNRNP48 Synonymous SNV Y60Y 0.003 0 0 0 4 0 0 0 0 0 0 0 12.74 170104 chr19 47280536 47280536 G A SLC1A5 Synonymous SNV C193C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 170105 chr6 7727525 7727525 C G rs7745236 BMP6 Nonsynonymous SNV Q113E 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 0.06 170106 chr19 48047415 48047415 T C rs34984302 ZNF541 Nonsynonymous SNV K791E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 170107 chr6 80635956 80635956 G C ELOVL4 Nonsynonymous SNV I81M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.83 170108 chr6 88326105 88326105 A G rs140577831 ORC3 Nonsynonymous SNV Y173C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 170109 chr19 48956060 48956060 T A rs762389782 GRWD1 Synonymous SNV G373G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 170110 chr5 167653216 167653216 C T rs371715051 TENM2 Synonymous SNV V1505V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 170111 chr5 167922408 167922408 G A rs146632182 RARS1 Nonsynonymous SNV R223H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 170112 chr7 100054447 100054447 G A rs367741928 C7orf61 Synonymous SNV H183H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 4.276 170113 chr7 100486864 100486864 C T UFSP1 Nonsynonymous SNV G10D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.9 170114 chr3 180705881 180705881 C T rs756192515 DNAJC19 Nonsynonymous SNV R20H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.3 170115 chrX 140714646 140714646 T C rs188697856 LOC645188 Nonsynonymous SNV I129T 0.004 0.003 0.003 3 5 1 0.008 1 2 0 0 1 3.022 170116 chr19 2112902 2112902 G A rs568823322 AP3D1 Nonsynonymous SNV A915V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.124 170117 chr3 101370091 101370091 C T rs34525894 ZBTB11 Synonymous SNV Q1027Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.31 170118 chr3 101383421 101383421 G A rs34474055 ZBTB11 Synonymous SNV H587H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 2.479 170119 chr19 51961616 51961616 - GCAGCA SIGLEC8 L8_P9insLL 0 0 0.003 0 0 0 0 1 0 0 0 0 170120 chr19 3136584 3136584 C T GNA15 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.353 170121 chr19 52249196 52249196 C A FPR1 X351L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.197 170122 chr7 1015137 1015137 G A rs147438710 COX19 Synonymous SNV T3T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.02 170123 chr1 1647812 1647812 A G rs772544700 CDK11A, CDK11B Nonsynonymous SNV M144T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.75 170124 chr19 4433353 4433353 G A CHAF1A Synonymous SNV Q830Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.745 170125 chr3 113049312 113049312 T G CFAP44 Nonsynonymous SNV E1273D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.285 170126 chr6 36931089 36931093 ACAAA - PI16 T326Sfs*4 0.003 0 0 0 3 0 0 0 0 0 0 0 170127 chr19 53787429 53787429 T C FAM90A27P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.559 170128 chr1 3425186 3425186 G A rs774573189 MEGF6 Synonymous SNV T532T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.814 170129 chr19 54314296 54314296 C T rs139461508 NLRP12 Nonsynonymous SNV R206H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.3 170130 chr1 3549997 3549997 G C WRAP73 Nonsynonymous SNV A296G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.081 170131 chr3 196296116 196296116 G C rs77421535 FBXO45 Synonymous SNV L87L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 6.84 170132 chr3 196388416 196388416 C T rs62636584 NRROS Synonymous SNV P634P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.497 170133 chr7 100675940 100675940 A G rs145279256 MUC17 Nonsynonymous SNV T415A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.73 170134 chr1 6253079 6253079 T G rs372152282 RPL22 Synonymous SNV G51G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.71 170135 chr3 121179013 121179013 G A rs777614615 POLQ Nonsynonymous SNV R2346C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.14 170136 chr19 55452981 55452981 G A rs145372368 NLRP7 Synonymous SNV P33P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 1.691 170137 chr19 55699485 55699485 A G rs10416615 PTPRH Synonymous SNV N634N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.07 170138 chr3 122329467 122329467 G C PARP15 Nonsynonymous SNV E145Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.511 170139 chr6 44143862 44143862 G A rs201872878 CAPN11 Nonsynonymous SNV A297T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.4 170140 chr6 44281015 44281015 T C rs749688690 AARS2 Nonsynonymous SNV I16V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.09 170141 chr7 138978017 138978017 C G UBN2 Nonsynonymous SNV L1237V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 170142 chr19 8188722 8188722 G A rs750843779 FBN3 Nonsynonymous SNV R968W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 170143 chr7 133602340 133602340 A G rs758777671 EXOC4 Nonsynonymous SNV I626V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.55 170144 chr5 54922363 54922363 T C rs749026473 SLC38A9 Nonsynonymous SNV I486V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.355 170145 chr1 15832493 15832493 C T rs775503596 CASP9 Nonsynonymous SNV G238S 0 0 0 1 0 0 0.003 0 0 0 0 0 35 170146 chr19 58265196 58265196 A G ZNF776 Nonsynonymous SNV E233G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.605 170147 chr19 58514318 58514318 C T rs61743406 LOC100128398 0 0 0.014 0 0 0 0 4 0 0 0 0 10.96 170148 chr7 137790114 137790114 G A rs778168706 AKR1D1 Nonsynonymous SNV R173H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.2 170149 chr5 96329614 96329614 C T rs757155329 LNPEP Nonsynonymous SNV T449I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 170150 chr19 59063274 59063274 C T rs770955835 CHMP2A Synonymous SNV S180S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 170151 chr7 148801038 148801038 A G rs146409684 ZNF425 Nonsynonymous SNV M642T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.048 170152 chr3 131388564 131388564 T C CPNE4 Synonymous SNV V230V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.35 170153 chr3 133099172 133099172 C T TMEM108 Nonsynonymous SNV P206L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.142 170154 chr6 76024856 76024856 T C rs139648537 FILIP1 Nonsynonymous SNV K231R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.546 170155 chr7 151874548 151874548 T C KMT2C Nonsynonymous SNV T2664A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 170156 chr7 141491006 141491006 C T TAS2R5 Nonsynonymous SNV T282I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.51 170157 chr6 84650310 84650310 A G rs78461347 CYB5R4 Nonsynonymous SNV K446E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 170158 chr19 7807980 7807980 T C rs138694095 CD209 Nonsynonymous SNV D251G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 170159 chr7 150710907 150710907 T C rs3918211 NOS3 Synonymous SNV V1117V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 12.68 170160 chr7 150883593 150883593 G A rs77615410 ASB10 Nonsynonymous SNV A157V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 not provided 3.659 170161 chr1 22965690 22965692 CTC - C1QA S179del 0 0 0 1 0 0 0.003 0 0 0 0 0 170162 chr3 141205951 141205951 C T rs200191034 RASA2 Nonsynonymous SNV A9V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 15.69 170163 chr7 155567718 155567718 G T RBM33 Nonsynonymous SNV A1166S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.84 170164 chr6 118635315 118635315 C A rs141802559 SLC35F1 Nonsynonymous SNV P376H 0.003 0 0.007 0 4 0 0 2 0 0 0 0 24.9 170165 chr3 143297490 143297490 A G rs76569782 SLC9A9 Synonymous SNV N277N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 1.009 170166 chr7 149545164 149545164 G A rs533170566 ZNF862 Synonymous SNV A194A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.26 170167 chr5 90144541 90144541 C T rs761963239 ADGRV1 Nonsynonymous SNV R5703C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 170168 chr1 25669531 25669531 C T rs3093647 TMEM50A Nonsynonymous SNV A58V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.3 170169 chr7 2108972 2108972 C T rs201607279 MAD1L1 Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 170170 chr7 30639618 30639618 C T GARS1 Nonsynonymous SNV T73I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 170171 chr6 136589406 136589406 C T rs139453467 BCLAF1 Nonsynonymous SNV R762Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 170172 chr1 27950386 27950386 C G rs143600855 FGR Synonymous SNV T14T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.468 170173 chr1 32842146 32842146 G C rs779097844 BSDC1 Nonsynonymous SNV N196K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.649 170174 chr19 17351552 17351552 C T rs755172489 NR2F6 Nonsynonymous SNV D101N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 170175 chr7 27169137 27169137 G A rs774662092 HOXA4 Nonsynonymous SNV R224W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 170176 chr1 33236278 33236278 C G rs762032044 KIAA1522 Nonsynonymous SNV P441A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 170177 chr7 27872466 27872466 A G rs143697346 JAZF1 Nonsynonymous SNV F229L 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.4 170178 chr19 9523973 9523973 G A rs201935806 ZNF266 Nonsynonymous SNV A543V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 170179 chr6 112437131 112437131 C T rs782085833 LAMA4 Nonsynonymous SNV G1683R 0.001 0 0 0 1 0 0 0 0 0 0 0 35 170180 chr19 9874003 9874004 AG - rs748573252 ZNF846 Y33Qfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 170181 chr1 10425550 10425550 C T rs147066476 KIF1B Synonymous SNV P1486P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.1 170182 chr1 108309132 108309132 T C rs758670130 VAV3 Nonsynonymous SNV H253R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.58 170183 chr3 183689610 183689610 G T rs28365011 ABCC5 Nonsynonymous SNV S29Y 0 0 0 3 0 0 0.008 0 0 0 0 0 7.569 170184 chr1 109734349 109734349 G A rs41279690 KIAA1324 Nonsynonymous SNV G178D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 170185 chr3 184043282 184043282 A G rs112420733 EIF4G1 Synonymous SNV P797P 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 2.939 170186 chr6 122773101 122773101 C A rs138235986 SERINC1 Nonsynonymous SNV A231S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 170187 chr6 128320017 128320017 G A rs201848981 PTPRK Nonsynonymous SNV R843C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 170188 chr1 11116755 11116755 C T rs150839676 SRM Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 170189 chr4 106863654 106863654 T C rs780095462 NPNT Synonymous SNV P318P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.936 170190 chr3 187416712 187416712 C T rs371450337 RTP2 Synonymous SNV A84A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.99 170191 chr6 159457664 159457664 G A rs574958409 TAGAP Nonsynonymous SNV S401L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 170192 chr7 102110022 102110022 G T rs140653534 LRWD1 Synonymous SNV T258T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.44 170193 chr1 45961146 45961146 C T CCDC163, CCDC163 Nonsynonymous SNV A112T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.874 170194 chr7 103197578 103197578 C T rs141387255 RELN Synonymous SNV L1881L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.01 170195 chr7 105254801 105254801 - GAG ATXN7L1 S537_L538insS 0.004 0 0.003 0 5 0 0 1 0 0 0 0 170196 chr4 113508653 113508653 - T ZGRF1 Frameshift insertion R1129Kfs*4 0 0.005 0 1 0 2 0.003 0 0 0 0 0 170197 chr6 160828142 160828142 T C rs3918291 SLC22A3 Synonymous SNV F201F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.674 170198 chr1 119576750 119576750 C G WARS2 Nonsynonymous SNV G201A 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 170199 chr7 111430661 111430661 C T rs200903684 DOCK4 Nonsynonymous SNV G1056E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 32 170200 chr1 49242302 49242302 T C rs750611570 BEND5 Nonsynonymous SNV K68E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 170201 chr7 42974610 42974610 A C rs200792408 MRPL32 Nonsynonymous SNV S63R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.04 170202 chr6 147655318 147655318 G A rs146077860 STXBP5 Synonymous SNV G702G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 10.4 170203 chr3 195515800 195515800 C G rs199633370 MUC4 Nonsynonymous SNV R884T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.983 170204 chr1 53730023 53730023 G C rs149749432 LRP8 Synonymous SNV L321L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.275 170205 chr7 75609659 75609659 C T rs41299490 POR Synonymous SNV A123A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.638 170206 chr7 75625797 75625797 G C rs150015474 STYXL1 Nonsynonymous SNV P215A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.2 170207 chr7 75689816 75689816 G A rs142812282 MDH2 Synonymous SNV K78K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 19.24 170208 chr19 35616191 35616191 T G rs200643838 LGI4 Nonsynonymous SNV H507P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.589 170209 chr3 197260360 197260360 C T rs570279645 BDH1 Synonymous SNV P52P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.68 170210 chr19 36003687 36003687 A T rs764686653 DMKN Synonymous SNV T144T 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 0.008 170211 chr19 36019109 36019109 G A rs202037585 SBSN Synonymous SNV S25S 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 7.348 170212 chr19 36046440 36046440 A T rs778214581 ATP4A Nonsynonymous SNV S687T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.87 170213 chr19 36134303 36134303 C T rs369147603 ETV2 Synonymous SNV A28A 0.004 0 0 0 5 0 0 0 0 0 0 0 12.77 170214 chr19 36223699 36223699 G T rs375564425 KMT2B Synonymous SNV T2083T 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 9.91 170215 chr4 138442375 138442375 T C rs146591833 PCDH18 Synonymous SNV P1071P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.105 170216 chr7 128766847 128766855 CTCGGGCCT - LOC407835 0.002 0 0 0 2 0 0 0 0 0 0 0 170217 chr7 128766858 128766858 T - LOC407835 0.002 0 0 0 2 0 0 0 0 0 0 0 170218 chr7 51132897 51132897 - TG rs996297140 COBL Frameshift insertion N449Tfs*20 0.002 0 0 1 2 0 0.003 0 0 0 0 0 170219 chr19 37676567 37676567 A T ZNF585B Nonsynonymous SNV H624Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 170220 chr7 56020910 56020910 G A MRPS17 Nonsynonymous SNV V8I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.19 170221 chr7 94174982 94174982 A G rs73720654 CASD1 Synonymous SNV L260L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.901 170222 chr3 38802842 38802842 A T rs140288103 SCN10A Nonsynonymous SNV S242T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 25.5 170223 chr3 38835415 38835415 A G rs148392780 SCN10A Synonymous SNV A29A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 9.72 170224 chr6 27279003 27279003 T G rs868458938 POM121L2 Nonsynonymous SNV Q316P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.726 170225 chr6 160469536 160469536 A G rs373212360 IGF2R Synonymous SNV R825R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.116 170226 chr19 39412200 39412200 C T rs140304897 SARS2 Synonymous SNV A167A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.36 170227 chr3 41756979 41756979 A C ULK4 Nonsynonymous SNV L544R 0.005 0 0 1 6 0 0.003 0 0 0 0 0 29.6 170228 chr3 42794195 42794195 C T rs774414082 CCDC13 Nonsynonymous SNV A129T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.6 170229 chr1 86891054 86891054 T C CLCA2 Synonymous SNV F73F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.962 170230 chr7 794264 794264 A G rs201998366 DNAAF5 Nonsynonymous SNV R355G 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 23.8 170231 chr19 41939177 41939177 T C rs375351812 DMAC2 Nonsynonymous SNV Q172R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.963 170232 chr1 156933019 156933019 G C rs145077102 ARHGEF11 Nonsynonymous SNV F332L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 22.2 170233 chr7 143175174 143175174 C A rs935664838 TAS2R41 Nonsynonymous SNV S70Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.002 170234 chr19 42814725 42814725 G T rs778215419 PRR19 Nonsynonymous SNV G302W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 170235 chr19 42914668 42914668 G A rs138983180 LIPE Nonsynonymous SNV R404C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 170236 chr19 44055738 44055738 C T rs763865398 XRCC1 Nonsynonymous SNV R395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 170237 chr6 24784711 24784711 C T rs771371885 GMNN Nonsynonymous SNV R133C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 34 170238 chr7 149505627 149505627 C T rs77181206 SSPO 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.213 170239 chr1 100330127 100330127 G A rs759509204 AGL Nonsynonymous SNV V216I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 170240 chr7 150034456 150034456 G A rs149938024 LRRC61 Nonsynonymous SNV G169D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 170241 chr8 11841998 11841998 C T rs371844029 DEFB135 Nonsynonymous SNV R45W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 170242 chr1 102269868 102269868 C A rs200193048 OLFM3 Nonsynonymous SNV A455S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 170243 chr7 92764069 92764069 G A rs150070697 SAMD9L Stop gain R406X 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 36 170244 chr1 160136343 160136343 G A rs200507673 ATP1A4 Nonsynonymous SNV R358H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 170245 chr1 108417549 108417549 A G rs12072686 VAV3 Synonymous SNV L99L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.7 170246 chr3 48456289 48456289 G A rs200587422 PLXNB1 Synonymous SNV A1376A 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 12.89 170247 chr7 99022808 99022808 G C rs761867510 ATP5MF-PTCD1, PTCD1 Synonymous SNV P449P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.019 170248 chr7 150730859 150730859 C T ABCB8 Nonsynonymous SNV P88L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.34 170249 chr6 42074527 42074527 T C C6orf132 Nonsynonymous SNV R375G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.212 170250 chr6 28253349 28253349 C G rs922921036 PGBD1 Nonsynonymous SNV Q140E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 8.314 170251 chr19 45179612 45179612 G T CEACAM19 Nonsynonymous SNV G165V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 170252 chr1 110085710 110085710 C T rs376914779 GPR61 Synonymous SNV T22T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.602 170253 chr7 154760682 154760682 T C PAXIP1 Nonsynonymous SNV Q410R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 170254 chr19 45855543 45855543 T C rs140296400 ERCC2 Nonsynonymous SNV N705S 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 11.44 170255 chr7 155150792 155150792 A C rs1049608096 BLACE 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 170256 chr4 20569000 20569000 T C rs369206949 SLIT2 Synonymous SNV Y943Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.99 170257 chr19 46214968 46214968 G C rs757473257 FBXO46 Nonsynonymous SNV R596G 0.003 0 0 0 4 0 0 0 0 0 0 0 13.84 170258 chr3 51430840 51430840 C T rs375089728 RBM15B Synonymous SNV H670H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.058 170259 chr3 51812760 51812760 G A rs780817321 IQCF6 Nonsynonymous SNV A68V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 170260 chr8 124820603 124820603 A C rs774631492 FAM91A1 Synonymous SNV T466T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.002 170261 chr3 52326821 52326821 G A rs145182754 GLYCTK Synonymous SNV S417S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.009 170262 chr8 125568638 125568638 A G rs753908447 MTSS1 Synonymous SNV A348A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.77 170263 chr8 125989558 125989558 C G rs374083749 ZNF572 Nonsynonymous SNV H350D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 170264 chr8 126061356 126061356 G A rs369066764 WASHC5 Synonymous SNV Y609Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.285 170265 chr8 10557746 10557746 A C C8orf74 Nonsynonymous SNV E217A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.025 170266 chr3 53852201 53852201 C T rs768181368 CHDH Nonsynonymous SNV R463H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 170267 chr8 11706650 11706650 G C rs763522789 CTSB Nonsynonymous SNV I117M 0.005 0 0 2 6 0 0.005 0 1 0 0 0 0.001 170268 chr19 49106940 49106940 G A rs765692637 FAM83E Synonymous SNV D329D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.827 170269 chr1 173930928 173930928 G C rs77941945 RC3H1 Nonsynonymous SNV Q713E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.597 170270 chr8 11842044 11842044 C G rs754004320 DEFB135 Nonsynonymous SNV T60S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.006 170271 chr8 120638945 120638945 G C ENPP2 Nonsynonymous SNV P51R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 170272 chr1 149859337 149859337 C G H2AC21 Nonsynonymous SNV V44L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 170273 chr1 176526279 176526279 T A rs761342497 PAPPA2 Nonsynonymous SNV L274Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 170274 chr8 135602591 135602591 C T rs138033806 ZFAT Nonsynonymous SNV R766K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 170275 chr6 38891086 38891086 A C rs115503147 DNAH8-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.715 170276 chr6 38941494 38941494 C T rs200315521 DNAH8 Synonymous SNV L3978L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 11.5 170277 chr1 151339230 151339230 C T rs148694055 SELENBP1 Nonsynonymous SNV R149Q 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 18.32 170278 chr1 152080012 152080012 C G rs146665414 TCHH Nonsynonymous SNV R1894T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.193 170279 chr6 41011375 41011375 G C rs147485285 TSPO2 Nonsynonymous SNV V85L 0.007 0.01 0 5 8 4 0.013 0 0 0 0 0 0.061 170280 chr1 152328516 152328516 T C rs767945752 FLG2 Synonymous SNV Q582Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 170281 chr1 181058137 181058137 C T rs146123627 IER5 Synonymous SNV N33N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 170282 chr1 152732383 152732383 G A rs141893273 KPRP Nonsynonymous SNV V107I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.029 170283 chr19 50266489 50266489 C G TSKS Nonsynonymous SNV V6L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 170284 chr4 48572932 48572932 T A rs202125385 FRYL Nonsynonymous SNV M970L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 170285 chr1 153719537 153719537 C T rs140852935 INTS3 Synonymous SNV C141C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.42 170286 chr1 153965358 153965358 A G rs191057966 NUP210L Synonymous SNV L1722L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.08 170287 chr19 50979802 50979802 A G rs763984523 EMC10 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 18.03 170288 chr3 97594945 97594945 T A rs563227058 CRYBG3 Nonsynonymous SNV V1636E 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 7.463 170289 chr3 97680483 97680483 T G RIOX2 Nonsynonymous SNV I168L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.1 170290 chr19 51462454 51462454 G A rs77760094 KLK6 Nonsynonymous SNV T127M 0.006 0.005 0.007 0 7 2 0 2 0 0 0 0 9.66 170291 chr8 145650103 145650103 A C VPS28 Nonsynonymous SNV S134A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 170292 chr1 19236883 19236883 G A rs182563370 IFFO2 Synonymous SNV D467D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.7 170293 chr1 19488947 19488947 C T rs532727929 UBR4 Synonymous SNV A1641A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.6 170294 chr7 43843322 43843322 A C rs759271732 BLVRA Nonsynonymous SNV I170L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 170295 chr8 144944298 144944298 C T rs200054235 EPPK1 Nonsynonymous SNV A1042T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.8 170296 chr6 87725239 87725239 T C HTR1E Nonsynonymous SNV S63P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.9 170297 chr7 44575955 44575955 C T rs751466741 NPC1L1 Nonsynonymous SNV R585H 0.004 0 0 0 5 0 0 0 0 0 0 0 22.5 170298 chr1 156555563 156555563 G A rs370157776 TTC24 Synonymous SNV T505T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.112 170299 chr7 4794961 4794961 G A rs774083733 FOXK1 Nonsynonymous SNV A333T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 170300 chr8 145623985 145623985 G A rs372696382 CPSF1 Nonsynonymous SNV T561I 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 0.156 170301 chr8 144790140 144790140 G A CCDC166 Nonsynonymous SNV T47I 0.003 0 0 4 3 0 0.01 0 0 0 0 0 1.033 170302 chr4 110902107 110902107 C G rs754198882 EGF Nonsynonymous SNV L741V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.412 170303 chr8 145749921 145749921 G A rs773366614 LRRC24 Synonymous SNV R114R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.385 170304 chr6 56417087 56417087 C G rs759882210 DST Nonsynonymous SNV L2878F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.07 170305 chr8 146108178 146108178 C T rs777069040 ZNF250 Synonymous SNV P114P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 170306 chr8 23156435 23156435 A G rs148111808 LOXL2 Nonsynonymous SNV V720A 0.002 0 0 0 2 0 0 0 0 0 0 0 33 170307 chr1 161094170 161094170 C T rs139003041 DEDD Nonsynonymous SNV R28H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 170308 chr8 25346108 25346108 T G rs143476472 CDCA2 Nonsynonymous SNV L510W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.22 170309 chr4 123252656 123252656 A G KIAA1109 Nonsynonymous SNV T3809A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 170310 chr7 72988360 72988360 G A rs782268662 TBL2 Synonymous SNV S118S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.85 170311 chr4 83372385 83372385 C T rs778193752 ENOPH1 Nonsynonymous SNV R38C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 170312 chr7 780486 780486 G A rs764170608 DNAAF5 Nonsynonymous SNV G271S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 17.12 170313 chr8 21955590 21955590 T G rs200264326 FAM160B2 Nonsynonymous SNV I179M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 170314 chr4 89361086 89361086 T A rs750491271 HERC6 Stop gain Y836X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 170315 chr1 222750850 222750850 C A rs770589947 TAF1A Nonsynonymous SNV A67S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 170316 chr8 30695178 30695178 G T rs2978065 TEX15 Synonymous SNV S2874S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.344 170317 chr19 57325899 57325899 T C PEG3 Nonsynonymous SNV H1149R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 170318 chr1 226570767 226570767 G A rs2230484 PARP1 Nonsynonymous SNV P377S 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Benign 13.58 170319 chr1 227171280 227171280 A G rs180784380 COQ8A Nonsynonymous SNV S370G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 170320 chr19 57649912 57649912 G A rs376866859 ZIM3 Nonsynonymous SNV R24W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 170321 chr8 39840258 39840258 C G rs115754126 IDO2 Nonsynonymous SNV L148V 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 24.9 170322 chr8 2886864 2886864 C G rs376096771 CSMD1 Nonsynonymous SNV G2611A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.032 170323 chr1 186314809 186314809 G A rs200209324 TPR Nonsynonymous SNV T1039I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 24.8 170324 chr8 86392912 86392912 G A rs201928238 CA2 Nonsynonymous SNV R125H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 170325 chr8 30695552 30695552 C T rs201198469 TEX15 Nonsynonymous SNV E2750K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 170326 chr8 90802584 90802584 G A rs200194636 RIPK2 Synonymous SNV P521P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 170327 chr8 105161027 105161027 C T rs550276581 RIMS2 Synonymous SNV I1070I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.48 170328 chr8 37555934 37555942 CGCCGCCGC - rs568050040 ZNF703 A512_A514del 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 170329 chr8 37702485 37702485 C T rs200302681 BRF2 Synonymous SNV P261P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.69 170330 chr8 73849146 73849146 A T KCNB2 Nonsynonymous SNV D519V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.4 170331 chr4 187205262 187205262 C G rs940304378 F11 Nonsynonymous SNV I384M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.77 170332 chr8 42256321 42256321 C G rs141938008 VDAC3 Nonsynonymous SNV T71S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 20.3 170333 chr4 187455656 187455656 C T rs149418383 MTNR1A Synonymous SNV P80P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 10.57 170334 chr1 201958049 201958049 C T rs146304401 RNPEP Synonymous SNV P24P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.22 170335 chr8 52361593 52361593 G A PXDNL Synonymous SNV N445N 0.003 0 0 0 3 0 0 0 0 0 0 0 1.017 170336 chr8 55371964 55371964 G A rs770677973 SOX17 Synonymous SNV P218P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.978 170337 chr8 55539158 55539158 G A rs201538234 RP1 Nonsynonymous SNV A906T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 19.26 170338 chr7 101813779 101813779 G A rs180828525 CUX1 Synonymous SNV S254S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.709 170339 chr5 138658658 138658658 - GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTA MATR3 0.001 0.005 0 0 1 2 0 0 0 0 0 0 170340 chr1 230841704 230841704 T C AGT Nonsynonymous SNV N367D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.71 170341 chr1 230895257 230895257 G C rs147929972 CAPN9 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 25.6 170342 chr1 205589166 205589166 A G ELK4 Synonymous SNV S336S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.922 170343 chr7 112407412 112407412 C T rs749693143 TMEM168 Nonsynonymous SNV R645H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 170344 chr1 233120083 233120083 C T rs771346463 PCNX2 Synonymous SNV T2127T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 170345 chr4 3417779 3417779 C T RGS12 Synonymous SNV S138S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.59 170346 chr1 234569193 234569193 G A TARBP1 Nonsynonymous SNV A786V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 170347 chr8 79629701 79629701 A G ZC2HC1A Synonymous SNV E317E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.189 170348 chr8 133895127 133895127 C T rs138561283 TG Nonsynonymous SNV R320C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 170349 chr7 123508988 123508988 C A rs200724965 HYAL4 Nonsynonymous SNV P221T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 170350 chr8 86163121 86163121 G A rs373427052 CA13 Nonsynonymous SNV G64S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 170351 chr7 12420269 12420269 G C rs201430222 VWDE Nonsynonymous SNV S211C 0.004 0.008 0.007 2 5 3 0.005 2 0 0 0 0 24.4 170352 chr5 140572601 140572601 A T rs782156474 PCDHB10 Nonsynonymous SNV D159V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 170353 chr8 87230027 87230027 A G SLC7A13 Nonsynonymous SNV F284S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.17 170354 chr4 39304214 39304214 C A RFC1 Nonsynonymous SNV G755V 0 0 0 1 0 0 0.003 0 0 0 0 0 29 170355 chr4 39523035 39523035 G A rs145763615 UGDH Nonsynonymous SNV T33M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 170356 chr1 213145937 213145937 G A rs373716709 VASH2 Synonymous SNV G127G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.17 170357 chr1 214625240 214625240 T C rs148513026 PTPN14 Synonymous SNV K84K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 3.492 170358 chr1 215914787 215914787 C G USH2A Nonsynonymous SNV A3881P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.217 170359 chr1 24394778 24394778 G A rs759894942 MYOM3 Nonsynonymous SNV S1077L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 170360 chr4 435964 435964 C A ZNF721 Nonsynonymous SNV Q764H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.025 170361 chr4 435967 435967 T C rs782355386 ZNF721 Synonymous SNV K763K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.013 170362 chr4 435968 435968 T A ZNF721 Nonsynonymous SNV K763I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.151 170363 chr4 435973 435973 C G ZNF721 Synonymous SNV V761V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.785 170364 chr4 435974 435974 A G rs369124896 ZNF721 Nonsynonymous SNV V761A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 170365 chr8 143867013 143867013 G A rs769479466 LY6D Nonsynonymous SNV T48M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.212 170366 chr9 100919858 100919858 C T rs201807340 CORO2A Nonsynonymous SNV V29M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 170367 chr1 225340398 225340398 G A DNAH14 0 0 0 1 0 0 0.003 0 0 0 0 0 14.13 170368 chr1 225428451 225428451 T A DNAH14 Synonymous SNV P2225P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.035 170369 chr9 116958282 116958282 C T rs549850855 COL27A1 Nonsynonymous SNV P705L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22 170370 chr20 17474942 17474942 G A rs145703098 BFSP1 Nonsynonymous SNV A467V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.812 170371 chr5 148406943 148406943 C A rs754938951 SH3TC2 Nonsynonymous SNV L784F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 0.412 170372 chr7 141727485 141727485 G A rs184092742 MGAM Nonsynonymous SNV D391N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 12.16 170373 chr7 141889247 141889247 G A rs4726494 MGAM2 Nonsynonymous SNV V1430M 0.003 0.005 0.003 5 4 2 0.013 1 0 0 0 0 24 170374 chr9 124441008 124441008 C T rs7027492 DAB2IP Nonsynonymous SNV S31F 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 24 170375 chr9 114293192 114293192 G A rs200679867 ZNF483 Synonymous SNV E150E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.873 170376 chr8 145557663 145557663 C T rs544319039 SCRT1 Synonymous SNV L77L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.163 170377 chr8 145580759 145580759 C A rs117589117 FBXL6 Nonsynonymous SNV R221L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 170378 chr7 143077076 143077076 T C rs969757184 LOC100507507 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.746 170379 chr1 2575811 2575811 G A rs114117211 TTC34 Synonymous SNV D868D 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 6.103 170380 chr8 145725554 145725554 C A rs145132792 PPP1R16A Nonsynonymous SNV D184E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.2 170381 chr1 229730111 229730111 C T TAF5L Nonsynonymous SNV S568N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.61 170382 chr4 76878836 76878836 A G rs114534142 SDAD1 Nonsynonymous SNV M498T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 2.418 170383 chr9 130953109 130953111 GCT - rs747501009 CIZ1 Q9del 0.001 0 0 0 1 0 0 0 0 0 0 0 170384 chr7 27135160 27135160 G C rs371597524 HOXA1 Synonymous SNV P124P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.44 170385 chr7 27282862 27282862 T C EVX1 Synonymous SNV D71D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.021 170386 chr20 39993768 39993768 T C rs149293510 EMILIN3 Nonsynonymous SNV N66S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 170387 chr4 8214545 8214545 G A rs200305611 SH3TC1 Nonsynonymous SNV R46H 0.005 0.003 0.003 1 6 1 0.003 1 1 0 0 0 10.73 170388 chr7 15725798 15725806 TGGTGGTGG - rs752096687 MEOX2 H78_H80del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 170389 chr7 30693205 30693205 G A rs374100148 CRHR2 Synonymous SNV A368A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.87 170390 chr7 30694313 30694313 C A CRHR2 0.001 0 0 0 1 0 0 0 0 0 0 0 6.961 170391 chr1 38042076 38042076 G A GNL2 Nonsynonymous SNV R148C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 170392 chr7 30915142 30915142 T A MINDY4 Synonymous SNV A614A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.295 170393 chr1 39879924 39879924 G - KIAA0754 E1330Rfs*30 0 0 0.003 0 0 0 0 1 0 0 0 0 170394 chr7 193295 193295 G C FAM20C Nonsynonymous SNV R32S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 170395 chr5 176829669 176829669 T G F12 Nonsynonymous SNV E521A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 170396 chr1 247143198 247143198 T C rs566613790 ZNF670-ZNF695 0 0 0 1 0 0 0.003 0 0 0 0 0 1.591 170397 chr1 247143201 247143201 A G rs538372099 ZNF670-ZNF695 0 0 0 1 0 0 0.003 0 0 0 0 0 0.352 170398 chr9 133932472 133932472 G T rs61737720 LAMC3 Nonsynonymous SNV G699V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.5 170399 chr9 130428495 130428495 C T STXBP1 Synonymous SNV D238D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.57 170400 chr1 247464271 247464271 C T rs758785809 ZNF496 Synonymous SNV S438S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.41 170401 chr7 33192327 33192327 G A rs753930404 BBS9 Nonsynonymous SNV G43S 0.003 0 0 0 3 0 0 0 0 0 0 0 31 170402 chr4 87656820 87656820 A G rs757654835 PTPN13 Nonsynonymous SNV Y742C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 170403 chr8 30954294 30954294 C T rs148286708 WRN Nonsynonymous SNV R637W 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 170404 chr7 43622955 43622955 A G rs768808965 STK17A Nonsynonymous SNV Q38R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 1.758 170405 chr9 139617656 139617656 C T rs61741542 DIPK1B Synonymous SNV A242A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.91 170406 chr5 192313 192313 C T rs372474616 LRRC14B Synonymous SNV H220H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.675 170407 chr9 139642771 139642771 C T rs139368067 LOC100128593 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.771 170408 chr1 46651169 46651169 G A rs34463133 TSPAN1 Nonsynonymous SNV M230I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.4 170409 chr8 42911554 42911554 C A FNTA Nonsynonymous SNV P22H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24 170410 chr9 139841017 139841017 C T rs78405347 C8G Synonymous SNV Y185Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.391 170411 chr9 139879356 139879377 CTGCACGCGGAAGGTGGAACCG - rs769734368 LCNL1 H131Afs*71 0.001 0.003 0 0 1 1 0 0 0 0 0 0 170412 chr9 139925489 139925489 G A rs148503197 FUT7 Synonymous SNV R234R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.64 170413 chr9 140063439 140063439 C T rs763165450 LRRC26 Nonsynonymous SNV R291H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 170414 chr8 62438574 62438574 T C rs200474335 ASPH Nonsynonymous SNV E592G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 170415 chr20 57829431 57829431 C T rs772575008 ZNF831 Nonsynonymous SNV S1556L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.503 170416 chr9 140140299 140140299 G A rs146880637 FAM166A Synonymous SNV A21A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.16 170417 chr9 140166537 140166537 G A rs141263630 NELFB Synonymous SNV E498E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.82 170418 chr9 140249180 140249180 C T rs201357385 EXD3 Nonsynonymous SNV R268Q 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 14.15 170419 chr9 140322520 140322520 T G rs61748945 NOXA1 Nonsynonymous SNV L99R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 170420 chr9 140372501 140372501 C G rs77683109 PNPLA7 Nonsynonymous SNV G931A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 170421 chr8 67786765 67786765 T A rs1008592632 MCMDC2 Nonsynonymous SNV C77S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 170422 chr2 11758538 11758538 C G rs774737600 GREB1 Synonymous SNV P1179P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.992 170423 chr9 140379055 140379055 A G rs34191041 PNPLA7 Synonymous SNV H752H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.022 170424 chr9 140508573 140508573 C T rs141353615 ARRDC1 Synonymous SNV R175R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.83 170425 chr2 15601374 15601374 G A rs200532922 NBAS Nonsynonymous SNV P764S 0 0 0 1 0 0 0.003 0 0 0 0 0 31 170426 chr1 6206421 6206421 C T rs145934535 CHD5 Synonymous SNV P551P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.72 170427 chr7 43992192 43992192 T C POLR2J4 0.001 0 0 0 1 0 0 0 0 0 0 0 1.121 170428 chr8 77895667 77895667 A G rs142645936 PEX2 Nonsynonymous SNV W250R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 170429 chr20 62193734 62193734 G A rs373877868 HELZ2 Nonsynonymous SNV R1533C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.3 170430 chr9 139747816 139747816 T C rs148156727 MAMDC4 Synonymous SNV I78I 0.005 0.008 0.01 2 6 3 0.005 3 0 0 0 0 5.43 170431 chr9 139837356 139837356 C T rs149461505 FBXW5 Nonsynonymous SNV A131T 0.005 0.008 0.007 3 6 3 0.008 2 0 0 0 0 15.95 170432 chr20 62407046 62407046 C T ZBTB46 Nonsynonymous SNV A403T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 170433 chr5 137756626 137756626 C T rs753223526 KDM3B Nonsynonymous SNV P1316L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 170434 chr1 67804316 67804316 G A rs772290732 IL12RB2 Nonsynonymous SNV G323E 0 0 0.007 0 0 0 0 2 0 0 0 0 27.2 170435 chr1 68910562 68910562 T C RPE65 Nonsynonymous SNV I84V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 170436 chr8 97605735 97605735 A C rs141268636 SDC2 Nonsynonymous SNV M30L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.47 170437 chr1 77528748 77528748 C T rs371237652 ST6GALNAC5 Nonsynonymous SNV R290C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 34 170438 chr5 140070448 140070448 T C rs750526549 HARS1 Nonsynonymous SNV T58A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.4 170439 chr5 140075198 140075198 T C HARS2 Nonsynonymous SNV Y144H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.5 170440 chr5 68720455 68720455 A T MARVELD2 Nonsynonymous SNV R392W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 170441 chr9 100843178 100843178 G A rs374656906 NANS Synonymous SNV V228V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.88 170442 chr9 15920314 15920314 G A CCDC171 Nonsynonymous SNV R1224K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 170443 chr9 101542517 101542517 T C rs377750405 ANKS6 Nonsynonymous SNV Q441R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.73 170444 chr9 101767245 101767245 G A rs34138827 COL15A1 Nonsynonymous SNV M422I 0.005 0 0.014 0 6 0 0 4 0 0 1 0 0.001 170445 chr9 101767303 101767303 G A rs16918128 COL15A1 Nonsynonymous SNV A442T 0.005 0 0.007 0 6 0 0 2 0 0 1 0 0.043 170446 chr9 35403767 35403767 C T rs142697917 UNC13B Nonsynonymous SNV P1135S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.5 170447 chr7 63466080 63466080 G A ZNF722P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 170448 chr9 35660577 35660577 C G rs776387476 CCDC107 Nonsynonymous SNV Q115E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 170449 chr9 104500047 104500047 C A rs558734093 GRIN3A Nonsynonymous SNV S72I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.1 170450 chr2 31428146 31428146 G A rs368808576 CAPN14 Synonymous SNV I56I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.666 170451 chr5 140711053 140711053 G A rs762391117 PCDHGA1 Nonsynonymous SNV D268N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 170452 chr7 6647713 6647713 C T rs569546643 C7orf26 Nonsynonymous SNV A424V 0.003 0 0 0 3 0 0 0 1 0 0 0 24.5 170453 chr2 36668609 36668609 G A rs144804297 CRIM1 Synonymous SNV P238P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.5 170454 chr9 3225048 3225048 T C rs764238395 RFX3 Synonymous SNV A748A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.061 170455 chr9 32542179 32542179 T C rs746320974 TOPORS Nonsynonymous SNV T717A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.446 170456 chr9 111662171 111662171 G A rs752272003 ELP1 Nonsynonymous SNV P363L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 170457 chr1 90399578 90399578 C T rs764713802 LRRC8D Synonymous SNV A317A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.725 170458 chr1 908293 908293 A T rs201101550 PLEKHN1 Nonsynonymous SNV D364V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 170459 chr2 39241109 39241109 C T rs144382701 SOS1 Synonymous SNV E654E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 13.02 170460 chr5 146798153 146798153 G A rs376419607 DPYSL3 Nonsynonymous SNV T171I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 170461 chr5 80640852 80640852 A G rs765561312 ACOT12 Nonsynonymous SNV V261A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 170462 chr5 14769139 14769139 G A rs74355706 ANKH Synonymous SNV A86A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 16.72 170463 chr9 4118136 4118136 G C GLIS3 Nonsynonymous SNV P293A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 170464 chr9 4286289 4286289 G A rs768719654 GLIS3 Nonsynonymous SNV T46I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.4 170465 chr2 48950789 48950789 C T rs121912539 LHCGR Nonsynonymous SNV V144I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.941 170466 chr9 5765489 5765489 G T RIC1 Nonsynonymous SNV D936Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.6 170467 chr21 43248610 43248610 G A rs767871819 PRDM15 Synonymous SNV H519H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 170468 chr9 6460773 6460773 G A rs781418928 UHRF2 Nonsynonymous SNV R282H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.75 170469 chr9 6533042 6533042 G A GLDC Nonsynonymous SNV S1013F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 170470 chr2 55536321 55536321 A G CCDC88A Synonymous SNV F1382F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.299 170471 chr20 1532666 1532666 T G rs866429642 SIRPD Nonsynonymous SNV H31P 0 0 0.007 0 0 0 0 2 0 0 0 0 21.3 170472 chr9 123911044 123911044 A C CNTRL Nonsynonymous SNV Q633P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 170473 chr9 124522611 124522611 C A DAB2IP Nonsynonymous SNV H231N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.514 170474 chr9 77280459 77280459 C T rs74717284 RORB Synonymous SNV N327N 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.2 170475 chr2 63175759 63175759 A G rs150604640 EHBP1 Nonsynonymous SNV H593R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 170476 chr9 77448950 77448950 A G rs144221623 TRPM6 Synonymous SNV G206G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign/Likely benign 4.729 170477 chr20 17410116 17410116 C T rs41276380 PCSK2 Synonymous SNV A184A 0.007 0.013 0.014 0 8 5 0 4 0 0 0 0 16.37 170478 chr9 8341102 8341102 A G rs201441177 PTPRD Nonsynonymous SNV I1298T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.7 170479 chr20 20349898 20349898 G A INSM1 Synonymous SNV P329P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.132 170480 chr2 71577281 71577281 T C rs766674576 ZNF638 Synonymous SNV A399A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 170481 chrX 102631528 102631528 G A BEX3 Synonymous SNV G66G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.971 170482 chr2 74425803 74425803 C T rs759764354 MTHFD2 Nonsynonymous SNV A12V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.787 170483 chr9 129851281 129851281 T A ANGPTL2 Synonymous SNV G473G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.974 170484 chr9 96435876 96435876 G A rs140677384 PHF2 Synonymous SNV P786P 0.009 0.005 0.003 1 10 2 0.003 1 0 0 0 0 Benign 14.32 170485 chr9 96438998 96438998 - ACCACCCCTGCCTCC PHF2 T996_S997insTPAST 0.009 0.005 0.003 2 10 2 0.005 1 0 0 0 0 170486 chr2 84806711 84806711 G A DNAH6 Nonsynonymous SNV A713T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 170487 chr22 18166021 18166021 A G rs16981016 BCL2L13 Nonsynonymous SNV I79V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 170488 chr20 31805408 31805408 C A rs73904636 BPIFA3 Nonsynonymous SNV H22Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.058 170489 chr22 18370182 18370182 G A rs115325382 MICAL3 Synonymous SNV A637A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.571 170490 chr20 31975188 31975188 G T rs139208288 CDK5RAP1 Nonsynonymous SNV D232E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.36 170491 chr9 131107753 131107753 C T rs753590802 SLC27A4 Nonsynonymous SNV R161W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 170492 chrX 101139621 101139621 C T rs140202441 ZMAT1 Nonsynonymous SNV D260N 0.004 0 0 0 5 0 0 0 2 0 0 0 5.871 170493 chr9 13121869 13121869 C G rs775365666 MPDZ Synonymous SNV T1667T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 14.31 170494 chr2 86090487 86090487 G A rs535883464 ST3GAL5 Synonymous SNV L45L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.867 170495 chr20 33530427 33530427 C T rs566549635 GSS Nonsynonymous SNV V119M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 29.7 170496 chrX 123517858 123517858 T C TENM1 Nonsynonymous SNV H2301R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 170497 chr2 96809896 96809896 T C rs753164081 DUSP2 Nonsynonymous SNV I243V 0 0 0 1 0 0 0.003 0 0 0 0 0 26 170498 chrX 12725711 12725711 G A rs747574742 FRMPD4 Nonsynonymous SNV E431K 0.003 0 0 0 3 0 0 0 1 0 0 0 26.8 170499 chr2 97357613 97357613 C G FER1L5 Nonsynonymous SNV P1043A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.119 170500 chr20 36631136 36631136 C T rs147058267 TTI1 Nonsynonymous SNV R849H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.35 170501 chr20 36869720 36869720 G T KIAA1755 Nonsynonymous SNV F271L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 170502 chrX 136648984 136648984 - CGCCGC rs756241691 ZIC3 A55_F56insAA 0.003 0 0 6 4 0 0.015 0 1 0 0 2 170503 chr2 100055293 100055295 GAA - rs753376232 REV1 S328del 0 0 0 1 0 0 0.003 0 0 0 0 0 170504 chrX 13778398 13778398 A G OFD1 Nonsynonymous SNV R567G 0.003 0 0 0 3 0 0 0 1 0 0 0 7.35 170505 chrX 139865862 139865862 G A rs138645302 CDR1 Nonsynonymous SNV R224C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.4 170506 chrX 140992860 140992860 T C rs113574601 MAGEC1 Star tloss M1? 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.569 170507 chr20 42788742 42788742 T C JPH2 Nonsynonymous SNV K229E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 170508 chr2 103095402 103095402 T C rs762773752 SLC9A4 Nonsynonymous SNV S121P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 170509 chr2 109403375 109403375 A C rs13389858 CCDC138 Nonsynonymous SNV K33Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.271 170510 chr9 136227141 136227141 - T rs782227511 SURF2 Stop gain E174* 0.004 0.003 0 0 5 1 0 0 0 0 0 0 170511 chr2 110937249 110937249 T C rs759699517 NPHP1 Synonymous SNV L52L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.817 170512 chr20 44441353 44441353 G C UBE2C Nonsynonymous SNV D7H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 170513 chr5 32077653 32077653 G A rs61745726 PDZD2 Nonsynonymous SNV S1208N 0.004 0 0.01 1 5 0 0.003 3 0 0 0 0 0.304 170514 chrX 47486217 47486217 C T rs61737993 CFP Nonsynonymous SNV D299N 0.005 0 0 1 6 0 0.003 0 2 0 0 0 Benign 24.3 170515 chr5 32087828 32087828 C T rs36097367 PDZD2 Nonsynonymous SNV T1425M 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 29.6 170516 chr20 45131128 45131128 G A rs202077322 ZNF334 Stop gain R246X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 170517 chr5 32091063 32091063 A G rs35923957 PDZD2 Synonymous SNV A2503A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 5.125 170518 chr9 137706649 137706649 A C COL5A1 Nonsynonymous SNV K1305Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 170519 chr22 29747778 29747778 G A rs115840226 AP1B1 Synonymous SNV F325F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 170520 chrX 18926073 18926073 C A rs373884791 PHKA2 Nonsynonymous SNV G821V 0.002 0 0 0 2 0 0 0 0 0 0 0 27 170521 chrX 19377757 19377757 A C rs201156613 PDHA1 Nonsynonymous SNV K356Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 170522 chrX 20134961 20134961 G A rs200047348 MAP7D2 Nonsynonymous SNV R13W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 170523 chr2 119915432 119915432 T G rs79015645 C1QL2 Synonymous SNV V138V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.027 170524 chr2 120020698 120020698 C T rs111723879 STEAP3 Synonymous SNV R417R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.61 170525 chrX 70888410 70888410 G A LOC101059915 Nonsynonymous SNV E253K 0.003 0 0 1 3 0 0.003 0 1 0 0 0 3.636 170526 chr2 120889198 120889198 A T rs114745805 EPB41L5 Nonsynonymous SNV L502F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.53 170527 chr2 120903828 120903828 C T rs376393236 EPB41L5 Nonsynonymous SNV H586Y 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 170528 chrX 2994602 2994602 G C rs111289343 ARSF Nonsynonymous SNV D59H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 170529 chr20 57036103 57036103 C G rs779092429 APCDD1L Nonsynonymous SNV E417Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 170530 chr9 139908421 139908421 A G rs777704320 ABCA2 Nonsynonymous SNV V1437A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.759 170531 chrX 48888080 48888080 C G TFE3 Synonymous SNV L334L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 14.07 170532 chr22 32881102 32881102 C T rs61752254 FBXO7 Synonymous SNV S152S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.15 170533 chrX 40562762 40562762 A C rs774590005 MED14 Nonsynonymous SNV S449A 0.007 0 0 0 8 0 0 0 3 0 0 0 1.327 170534 chr20 57617830 57617830 C G rs376759770 SLMO2-ATP5E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.342 170535 chr8 1876762 1876762 C T rs201570359 ARHGEF10 Nonsynonymous SNV P918L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.39 170536 chr8 1949618 1949618 C A KBTBD11 Nonsynonymous SNV S87Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 170537 chr10 102762570 102762570 A G LZTS2 Nonsynonymous SNV N92S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 170538 chr8 145059375 145059375 C T rs146177797 PARP10 Synonymous SNV P277P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 170539 chrX 75003562 75003562 C T rs147432059 MAGEE2 Nonsynonymous SNV R442H 0.004 0 0 0 5 0 0 0 2 0 0 0 23.1 170540 chr5 64070596 64070596 A G rs201232840 CWC27 Nonsynonymous SNV I41V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 4.57 170541 chr10 105344708 105344708 C T rs367937591 NEURL1 Synonymous SNV F355F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.79 170542 chr8 145666151 145666151 C G rs149456513 TONSL Nonsynonymous SNV V372L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 170543 chr20 61981923 61981923 G A rs776867107 CHRNA4 Synonymous SNV S280S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.59 170544 chr5 6739878 6739878 G A TENT4A Synonymous SNV E307E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.55 170545 chrY 14889974 14889974 C T rs34601266 USP9Y Synonymous SNV L887L 0.003 0 0 2 4 0 0.005 0 2 0 0 1 10.42 170546 chr8 25325752 25325752 C T rs758525945 CDCA2 Synonymous SNV S171S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.521 170547 chrX 85156116 85156116 T C CHM Nonsynonymous SNV E441G 0.003 0 0 0 4 0 0 0 1 0 0 0 23.5 170548 chrX 92927053 92927053 G A NAP1L3 Synonymous SNV T417T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 170549 chr22 41940067 41940067 G A rs200474012 POLR3H Synonymous SNV I13I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.11 170550 chr22 43015795 43015795 C T rs76458556 CYB5R3 Nonsynonymous SNV R297H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 170551 chr21 28210767 28210767 G A rs373231583 ADAMTS1 Nonsynonymous SNV T732I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.7 170552 chr9 34627780 34627780 G A rs370789342 ARID3C Nonsynonymous SNV P78S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.64 170553 chr8 21891712 21891712 A G rs147569042 NPM2 Nonsynonymous SNV I153V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 170554 chr8 38677349 38677349 T C rs189231371 TACC1 Star tloss M1? 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.746 170555 chr22 45564104 45564104 G A rs200329756 NUP50 Nonsynonymous SNV D16N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 170556 chr21 33975515 33975515 C T rs61735781 C21orf59-TCP10L, CFAP298 Nonsynonymous SNV V109M 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign 34 170557 chr9 6255967 6255967 G C rs146597587 IL33 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.9 170558 chr9 6565429 6565429 G A rs777724341 GLDC Synonymous SNV S617S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.59 170559 chr9 6990438 6990438 C T KDM4C Nonsynonymous SNV T567I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 170560 chr2 170591585 170591585 G C rs553844231 KLHL23, PHOSPHO2-KLHL23 Nonsynonymous SNV D21H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 170561 chr10 105795292 105795292 G C COL17A1 Nonsynonymous SNV P1150A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.5 170562 chr5 79741157 79741157 C G ZFYVE16 Nonsynonymous SNV T886R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 30 170563 chr21 40250361 40250361 - AA rs11464500 LOC400867 0 0 0.024 0 0 0 0 7 0 0 1 0 170564 chr10 114427981 114427981 A G rs145533830 VTI1A Synonymous SNV Q144Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.849 170565 chr22 50686430 50686430 - GGCAAC HDAC10 S389delinsCCP 0.001 0.005 0 0 1 2 0 0 0 0 0 0 170566 chr22 50686432 50686432 - C HDAC10 Frameshift insertion S389Lfs*20 0.001 0.005 0 0 1 2 0 0 0 0 0 0 170567 chr2 173881919 173881919 C T rs150495482 RAPGEF4 Nonsynonymous SNV A419V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 21.9 170568 chr9 77748315 77748315 A G rs201675512 OSTF1 Nonsynonymous SNV K119R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 170569 chr10 124708278 124708278 C T rs762727957 C10orf88 Nonsynonymous SNV A179T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 170570 chr21 40978198 40978198 G A B3GALT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.662 170571 chr5 82837517 82837517 G A rs754282657 VCAN Nonsynonymous SNV E1912K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 23.8 170572 chr10 126311847 126311847 G A rs141374586 FAM53B Synonymous SNV D411D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.034 170573 chr5 85915202 85915202 G A rs147693864 COX7C Synonymous SNV S36S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.729 170574 chr2 179401936 179401936 G C TTN Nonsynonymous SNV I24235M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.674 170575 chr2 179474472 179474472 G A rs372635204 TTN Synonymous SNV N8161N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.5 170576 chr2 179611064 179611064 C G rs570210598 TTN Nonsynonymous SNV V5355L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 170577 chr9 85958114 85958114 T C rs199965799 FRMD3 Nonsynonymous SNV I155V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.2 170578 chr10 131639124 131639124 A G rs372920454 EBF3 Synonymous SNV A506A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 2.104 170579 chr8 92307793 92307793 C T rs201042056 SLC26A7 Synonymous SNV N113N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 170580 chr10 135012612 135012612 C T rs199922097 KNDC1 Nonsynonymous SNV P867L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.6 170581 chr10 124358573 124358573 C T rs370651746 DMBT1 Synonymous SNV H581H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.658 170582 chrX 100503557 100503557 G A rs149294275 DRP2 Synonymous SNV L425L 0.003 0 0.007 0 4 0 0 2 2 0 1 0 5.7 170583 chr21 47697578 47697578 G A MCM3AP Nonsynonymous SNV S574F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 170584 chr2 189931185 189931185 A G COL5A2 Synonymous SNV G498G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.91 170585 chrX 48650624 48650624 C A rs369844571 GATA1 Synonymous SNV P198P 0.003 0 0.003 0 3 0 0 1 1 0 0 0 6.336 170586 chr10 129903235 129903235 A G rs142585399 MKI67 Nonsynonymous SNV L1930S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.7 170587 chr6 116277768 116277768 T A rs200172011 FRK Nonsynonymous SNV M269L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.9 170588 chrX 130219643 130219643 G A rs777932916 ARHGAP36 Nonsynonymous SNV R210H 0.002 0 0 0 2 0 0 0 1 0 0 0 28.8 170589 chr2 192543389 192543389 G A rs868255520 NABP1 Nonsynonymous SNV G17R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 170590 chr6 116861582 116861582 G A rs765754172 TRAPPC3L Stop gain R62X 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 38 170591 chrX 53280105 53280105 G A rs782763345 IQSEC2 Synonymous SNV L551L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.346 170592 chr22 21192982 21192982 T C PI4KA Nonsynonymous SNV H65R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 170593 chrX 54578377 54578377 C T rs145154395 GNL3L Nonsynonymous SNV A384V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 170594 chrX 65252334 65252334 C T rs148523173 VSIG4 Nonsynonymous SNV D224N 0.006 0 0 0 7 0 0 0 2 0 0 0 9.831 170595 chrX 66766357 66766374 GGCGGCGGCGGCGGCGGC - rs780052930 AR G468_G473del 0.003 0 0 0 3 0 0 0 0 0 0 0 170596 chr10 26575321 26575321 G A GAD2 Synonymous SNV Q428Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.437 170597 chr6 12164106 12164106 G A rs774168710 HIVEP1 Synonymous SNV Q2523Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.974 170598 chr2 207027319 207027319 C T EEF1B2 Synonymous SNV D168D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 170599 chrX 153689645 153689645 G A rs150974296 PLXNA3 Synonymous SNV A267A 0.006 0.008 0.007 0 7 3 0 2 3 1 1 0 0.586 170600 chr6 45390431 45390451 CAGCAGCAGCAGCAACAGCAG - rs794727486 RUNX2 Q51_Q57del 0.007 0.005 0.003 1 8 2 0.003 1 0 0 0 0 170601 chrX 101858642 101858642 A T ARMCX5 Nonsynonymous SNV I525L 0.003 0.01 0 0 4 4 0 0 0 2 0 0 22.9 170602 chrX 101909808 101909808 G T GPRASP1 Nonsynonymous SNV A323S 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 0.048 170603 chr22 30771772 30771772 G A rs3804077 KIAA1656 0 0 0.014 0 0 0 0 4 0 0 0 0 14.8 170604 chr22 30866024 30866024 A C rs777477216 SEC14L3 Synonymous SNV L72L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.244 170605 chr2 217297520 217297520 G T SMARCAL1 Nonsynonymous SNV A472S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 170606 chrX 119580269 119580269 A C rs141541387 LAMP2 Nonsynonymous SNV I252S 0.004 0 0.007 2 5 0 0.005 2 1 0 1 1 Benign/Likely benign 23.4 170607 chr9 105767341 105767341 A C CYLC2 Nonsynonymous SNV K143T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.65 170608 chrX 130415885 130415885 G C rs372021690 IGSF1 Nonsynonymous SNV P418R 0.001 0.01 0 0 1 4 0 0 0 2 0 0 23 170609 chrX 132160826 132160826 G A rs41299088 USP26 Nonsynonymous SNV H475Y 0.007 0.016 0.007 5 8 6 0.013 2 2 3 0 2 0.001 170610 chrX 132161755 132161755 A G rs61741870 USP26 Nonsynonymous SNV L165S 0.007 0.016 0.007 5 8 6 0.013 2 2 3 0 2 0.485 170611 chrX 132161879 132161879 - TGT rs112247927 USP26 T123_Q124insT 0.007 0.016 0.007 5 8 6 0.013 2 2 3 0 2 170612 chrX 54497833 54497833 C T rs145644275 FGD1 Nonsynonymous SNV R132Q 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign/Likely benign 22.8 170613 chrX 135960174 135960174 C T rs746534991 RBMX Synonymous SNV P96P 0.001 0.005 0 0 1 2 0 0 0 1 0 0 17.59 170614 chrX 64722920 64722920 A G rs765824789 ZC3H12B Nonsynonymous SNV N781S 0.003 0 0 0 3 0 0 0 1 0 0 0 0.364 170615 chr10 30318073 30318073 A G rs376500823 JCAD Nonsynonymous SNV L335S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 170616 chr22 39019254 39019254 C G FAM227A Nonsynonymous SNV S294T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.043 170617 chr22 39137050 39137050 G A rs373906710 SUN2 Synonymous SNV S405S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 170618 chr22 39222589 39222589 G A rs34609145 NPTXR Synonymous SNV F338F 0 0 0.007 0 0 0 0 2 0 0 0 0 13.04 170619 chrX 99920331 99920331 G A rs139514583 SRPX2 Synonymous SNV P208P 0.003 0 0.007 0 4 0 0 2 2 0 1 0 Benign/Likely benign 8.352 170620 chr9 130634990 130634990 C T rs61742069 AK1 Synonymous SNV E78E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17 170621 chr6 79924712 79924712 C T rs753089354 HMGN3 Nonsynonymous SNV G15R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 33 170622 chr9 130653068 130653068 C T rs61732488 ST6GALNAC6 Synonymous SNV G150G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 170623 chr9 130941316 130941316 C A rs61740197 CIZ1 Nonsynonymous SNV Q289H 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Benign 10.36 170624 chr9 117139098 117139098 G A rs575079213 AKNA Nonsynonymous SNV P211L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.968 170625 chr9 131196834 131196834 C T CERCAM Synonymous SNV L415L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 170626 chr22 42128334 42128334 T C rs150397235 MEI1 Synonymous SNV A394A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.6 170627 chr10 102684656 102684656 A G rs35532139 SLF2 Nonsynonymous SNV N633S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 170628 chr10 103899206 103899206 C G PPRC1 Nonsynonymous SNV P314R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 170629 chr9 131670814 131670814 C T rs11999256 LRRC8A Synonymous SNV P457P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 8.824 170630 chr9 131671438 131671438 G A rs11999752 LRRC8A Synonymous SNV E665E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 1.962 170631 chr2 231911721 231911721 C T rs530796995 C2orf72 Synonymous SNV T291T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.661 170632 chr9 131755891 131755891 C T rs17485583 NUP188 Synonymous SNV L979L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.11 170633 chr10 71658478 71658478 G A rs200447906 COL13A1 Nonsynonymous SNV R190Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 170634 chr9 132632067 132632067 T C rs758879262 USP20 Synonymous SNV C503C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.276 170635 chr9 133333936 133333936 G T rs35269064 ASS1 Nonsynonymous SNV R108L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 170636 chr1 1720616 1720616 G A rs201256388 GNB1 Synonymous SNV Y164Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.048 170637 chr10 72434745 72434745 C T rs144956824 ADAMTS14 Synonymous SNV D172D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 12.26 170638 chr10 106075216 106075216 C T rs376948772 ITPRIP Synonymous SNV E198E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.163 170639 chr22 46403245 46403245 C T rs76169353 LOC730668 0 0 0.003 0 0 0 0 1 0 0 0 0 6.978 170640 chr10 73492014 73492014 G A rs201877610 CDH23 Nonsynonymous SNV G1329D 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 27.9 170641 chr10 75264736 75264736 G A rs61761602 USP54 Stop gain R1333X 0.001 0.01 0 0 1 4 0 0 0 0 0 0 40 170642 chr2 241513207 241513207 C T rs1023916268 RNPEPL1 Synonymous SNV A279A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 170643 chr2 108945912 108945912 C A rs573556639 SULT1C2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 170644 chr2 10922433 10922433 C T rs377277646 ATP6V1C2 Nonsynonymous SNV R330C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 170645 chr3 8983183 8983183 G A rs779466926 RAD18 Nonsynonymous SNV P191L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.87 170646 chr7 100647856 100647856 - T MUC12 Stop gain E4672* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 170647 chr7 100807522 100807522 C G rs768831007 VGF Synonymous SNV G201G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.437 170648 chr10 7605146 7605146 T C rs137874246 ITIH5 Nonsynonymous SNV N696S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 170649 chr2 119603886 119603886 G A rs572958274 EN1 Synonymous SNV S286S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.622 170650 chr3 11871261 11871261 A G rs148079921 TAMM41 Synonymous SNV A163A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.4 170651 chr3 13612351 13612351 G A rs373674930 FBLN2 Nonsynonymous SNV G166S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 170652 chr3 13679364 13679364 C T FBLN2 Nonsynonymous SNV S1167F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 170653 chr2 131798869 131798869 C T rs200586233 ARHGEF4 Nonsynonymous SNV R1577W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 170654 chr2 134884697 134884697 G C rs10175383 MIR3679 0 0 0.014 0 0 0 0 4 0 0 0 0 3.904 170655 chr10 89622183 89622183 C G KLLN Nonsynonymous SNV R21P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.26 170656 chr10 90537891 90537891 T C rs1045326802 LIPN Synonymous SNV H363H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.348 170657 chr7 122338957 122338957 C T RNF133 Nonsynonymous SNV V6I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 170658 chr9 33076589 33076589 T C rs765480619 SMU1 Synonymous SNV E6E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.749 170659 chr11 1018228 1018228 G A rs777800148 MUC6 Synonymous SNV L1525L 0.012 0.008 0 2 14 3 0.005 0 0 0 0 0 2.086 170660 chr9 35852826 35852826 C T rs78144170 TMEM8B Synonymous SNV F274F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.01 170661 chr9 35906545 35906553 CCACCACCA - rs751127824 HRCT1 H90_H92del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 170662 chr10 96495052 96495052 C T rs79500998 CYP2C18 Nonsynonymous SNV R383C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.2 170663 chr9 71843025 71843025 C T rs372652662 TJP2 Nonsynonymous SNV P487L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 170664 chr3 40231474 40231474 C T rs755885859 MYRIP Synonymous SNV S208S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.12 170665 chr6 47649750 47649750 T C rs373798649 ADGRF2 Synonymous SNV H485H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.001 170666 chr11 106810450 106810450 C T rs762412341 GUCY1A2 Synonymous SNV A314A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 170667 chr3 42701123 42701123 G A rs200539382 ZBTB47 Nonsynonymous SNV A426T 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 16.6 170668 chr3 42727758 42727758 G T rs200613578 KLHL40 Synonymous SNV A216A 0.004 0.008 0.01 1 5 3 0.003 3 0 0 0 0 Benign/Likely benign 8.458 170669 chr3 42739785 42739785 C A rs143853080 HHATL Nonsynonymous SNV S181I 0.003 0.01 0.007 3 4 4 0.008 2 0 0 0 0 24.2 170670 chr3 43073909 43073909 G T rs955458772 GASK1A Nonsynonymous SNV V52L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.39 170671 chr2 171818189 171818189 G A rs77658592 GORASP2 Synonymous SNV P212P 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 13.25 170672 chr2 176957793 176957801 GCGGCGGCA - rs749930395 HOXD13 A69_A71del 0 0 0.007 0 0 0 0 2 0 0 0 0 170673 chr6 64410263 64410263 A G rs750045172 PHF3 Synonymous SNV K914K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.667 170674 chr3 45714225 45714225 G A rs775661723 LIMD1 Nonsynonymous SNV R562H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 170675 chr11 117403123 117403123 C T rs748066834 DSCAML1 Nonsynonymous SNV R209Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 170676 chr10 6002469 6002469 C T rs780936797 IL15RA Synonymous SNV P79P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.15 170677 chr9 72723324 72723324 T C rs151202507 MAMDC2 Nonsynonymous SNV W116R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.6 170678 chr11 118375568 118375568 T A rs9332842 KMT2A Synonymous SNV T2987T 0.003 0.008 0 3 3 3 0.008 0 0 0 0 0 Benign 3.916 170679 chr11 119042152 119042152 T C rs11828801 NLRX1 Nonsynonymous SNV S14P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.87 170680 chr9 73255564 73255564 G A rs200939544 TRPM3 Nonsynonymous SNV S453L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 170681 chr7 150778791 150778791 C G rs758176409 TMUB1 Nonsynonymous SNV G196R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 26 170682 chr3 48475235 48475235 C T rs777092509 CCDC51 Nonsynonymous SNV R120Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.1 170683 chrX 109695237 109695237 C T rs146140155 RTL9 Synonymous SNV S464S 0.003 0.003 0 0 4 1 0 0 1 0 0 0 12.23 170684 chr3 48697245 48697245 C T rs770420814 CELSR3 Synonymous SNV K941K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.84 170685 chr1 41949837 41949837 C T rs41269469 EDN2 Synonymous SNV A34A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.98 170686 chr3 49153336 49153336 T C rs201093030 USP19 Nonsynonymous SNV T389A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.709 170687 chr7 155504029 155504029 A C rs200440039 RBM33 Nonsynonymous SNV M361L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.68 170688 chr7 156469173 156469173 G A rs34819142 RNF32 Nonsynonymous SNV G305S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.461 170689 chr7 157449099 157449099 C T rs577236042 PTPRN2 Nonsynonymous SNV E678K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 170690 chr11 123676387 123676387 C T rs77922487 OR6M1 Nonsynonymous SNV R224H 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 2.359 170691 chr3 51749401 51749401 G A rs201981098 GRM2 Nonsynonymous SNV A160T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.456 170692 chr11 123811013 123811013 G A rs17127996 OR4D5 Synonymous SNV R230R 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 0.03 170693 chr11 123813795 123813795 T C rs7937317 OR6T1 Nonsynonymous SNV I251V 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 0.001 170694 chr11 123814261 123814261 G A rs6590020 OR6T1 Synonymous SNV V95V 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 4.392 170695 chr11 123814356 123814356 G A rs6590021 OR6T1 Nonsynonymous SNV R64W 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 10.71 170696 chr11 123814478 123814478 A G rs6590022 OR6T1 Nonsynonymous SNV I23T 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 8.996 170697 chr11 123886583 123886583 A G rs4474449 OR10G4 Nonsynonymous SNV Y101C 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 16.83 170698 chr1 45279153 45279153 G T rs538321731 BTBD19 Synonymous SNV R241R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.598 170699 chr7 16900151 16900151 T C AGR3 Nonsynonymous SNV T142A 0 0.008 0 0 0 3 0 0 0 1 0 0 3.287 170700 chr7 17379805 17379805 A G rs72552769 AHR Nonsynonymous SNV M786V 0.002 0.013 0.003 0 2 5 0 1 0 0 0 0 8.636 170701 chr2 204305295 204305357 GGAGGGGGTGGAAACTGGCTGGCTATCTGCTTCACGACCGAGGGCACCGGTGACAGTGGAGAG - RAPH1 S853_P873del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 170702 chr11 123900694 123900694 A G rs75994039 OR10G8 Nonsynonymous SNV Y122C 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 26.1 170703 chr11 123900916 123900916 C T rs75240316 OR10G8 Nonsynonymous SNV T196I 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 9.966 170704 chr11 123909099 123909099 G T rs59358830 OR10G7 Nonsynonymous SNV L204I 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 0.08 170705 chr1 46661521 46661521 T G POMGNT1 Nonsynonymous SNV M144L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.71 170706 chr11 123989296 123989296 C T rs34381050 VWA5A Synonymous SNV L176L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 8.867 170707 chr11 124095916 124095916 C T rs11825213 OR8G2P Synonymous SNV T173T 0.005 0.003 0.007 2 6 1 0.005 2 0 0 0 0 1.807 170708 chr11 124179902 124179902 G A rs57552127 OR8D1 Nonsynonymous SNV S254F 0.006 0.003 0.007 2 7 1 0.005 2 0 0 0 0 22.9 170709 chrX 153662566 153662566 G A ATP6AP1 Nonsynonymous SNV V233I 0.003 0 0 0 3 0 0 0 1 0 0 0 0.939 170710 chr11 124190036 124190036 G A rs61735123 OR8D2 Nonsynonymous SNV R20C 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 10.32 170711 chr3 57893733 57893733 G A rs762108458 SLMAP Nonsynonymous SNV A59T 0 0 0 1 0 0 0.003 0 0 0 0 0 32 170712 chr11 124440043 124440043 A G rs7927196 OR8A1 Nonsynonymous SNV T10A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 2.216 170713 chr3 65376943 65376943 T G rs61740330 MAGI1 Nonsynonymous SNV T764P 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 10.42 170714 chr3 66433507 66433507 G T LRIG1 Nonsynonymous SNV T797N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 170715 chr3 69230847 69230847 G C rs202099937 FRMD4B Nonsynonymous SNV S685C 0 0 0 2 0 0 0.005 0 0 0 0 0 24 170716 chrX 125298831 125298831 G A rs61743114 DCAF12L2 Synonymous SNV Y359Y 0.003 0.003 0.003 1 4 1 0.003 1 2 0 0 0 0.019 170717 chr10 88446992 88446992 G A rs373632943 LDB3 Nonsynonymous SNV A171T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 170718 chr11 119535677 119535677 - CCTCCT rs137909701 NECTIN1 E444_G445insEE 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 170719 chr11 120200849 120200849 G T rs201149149 TLCD5 Nonsynonymous SNV E20D 0.003 0 0 0 3 0 0 0 0 0 0 0 16.64 170720 chr11 1482217 1482217 T C BRSK2 X669Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 170721 chr1 62739837 62739837 C T rs559482425 KANK4 Synonymous SNV P313P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.08 170722 chr2 224746756 224746756 C G rs147668328 WDFY1 Nonsynonymous SNV G323R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 170723 chr10 98006805 98006805 C T rs11540858 BLNK Synonymous SNV R16R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 18.23 170724 chr10 98138791 98138791 G C rs112143542 TLL2 Nonsynonymous SNV F751L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.014 170725 chr3 113010544 113010544 C T rs62001865 CFAP44 Nonsynonymous SNV V1809I 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 0.004 170726 chr3 113052314 113052314 G C rs61732431 CFAP44 Nonsynonymous SNV P1185R 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 26.9 170727 chr2 231042291 231042291 A G rs200056752 SP110 Nonsynonymous SNV I518T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 170728 chr7 100675732 100675732 G A rs368047713 MUC17 Synonymous SNV P345P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.421 170729 chr3 113377657 113377657 C T rs200212545 USF3 Nonsynonymous SNV V958I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.01 170730 chr7 103251218 103251218 T C rs3025962 RELN Nonsynonymous SNV T978A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 23.8 170731 chr7 103301976 103301976 - A rs146986040 RELN 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 170732 chr7 64168429 64168429 G A rs77575429 ZNF107 Nonsynonymous SNV E620K 0.01 0.008 0 0 12 3 0 0 0 0 0 0 Benign 11.36 170733 chr3 122437430 122437430 C T rs367833851 PARP14 Synonymous SNV L1478L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 170734 chr10 115341673 115341673 A G rs751516945 HABP2 Nonsynonymous SNV T267A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 170735 chr1 92646160 92646160 C T KIAA1107 Nonsynonymous SNV R461C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.703 170736 chr2 240033226 240033226 C T rs139294585 HDAC4 Synonymous SNV T653T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 170737 chr7 128851867 128851867 C T rs34545616 SMO Nonsynonymous SNV P647S 0.006 0.008 0.007 9 7 3 0.023 2 0 0 0 0 Benign/Likely benign 25.7 170738 chr1 94645421 94645421 T C rs752670470 ARHGAP29 Synonymous SNV K716K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.031 170739 chr2 241874481 241874481 T A CROCC2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 170740 chr10 118957023 118957023 G A KCNK18 Synonymous SNV Q8Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 170741 chr3 129547000 129547000 C T rs768175297 TMCC1 Synonymous SNV Q74Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.339 170742 chr7 82390007 82390007 G A rs750960950 PCLO Nonsynonymous SNV S5079L 0 0.008 0 0 0 3 0 0 0 0 0 0 23.9 170743 chr3 134094079 134094079 T C AMOTL2 Nonsynonymous SNV T22A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.401 170744 chr10 129839218 129839218 A C rs963846338 PTPRE Nonsynonymous SNV T25P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.6 170745 chr11 22281279 22281279 - A rs281865480 ANO5 Frameshift insertion M542Nfs*11 0.002 0 0 1 2 0 0.003 0 0 0 0 0 170746 chr7 140373506 140373506 G A ADCK2 Nonsynonymous SNV V126I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.61 170747 chr10 129910064 129910064 A G rs147489415 MKI67 Nonsynonymous SNV V342A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.415 170748 chr3 149216652 149216652 T C rs751827234 TM4SF4 Nonsynonymous SNV L182P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 170749 chr1 8419827 8419827 C G RERE Synonymous SNV A651A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.444 170750 chr10 134659658 134659658 G T rs142805512 CFAP46 Nonsynonymous SNV A2114E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 26.5 170751 chr8 101014457 101014457 A C rs201487971 RGS22 Nonsynonymous SNV S740R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.8 170752 chr7 144094583 144094583 G A rs115882574 NOBOX Nonsynonymous SNV P609L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 24.7 170753 chr10 135086859 135086859 C T ADAM8 Nonsynonymous SNV E119K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.443 170754 chr2 33588489 33588489 A G rs543727566 LTBP1 Nonsynonymous SNV I1067V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.49 170755 chr3 159711265 159711265 A C rs201655135 IL12A Nonsynonymous SNV T98P 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 9.111 170756 chr11 34153015 34153015 G T NAT10 Nonsynonymous SNV C414F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 170757 chr3 167339277 167339277 G T WDR49 Nonsynonymous SNV S254Y 0 0 0 1 0 0 0.003 0 0 0 0 0 19.1 170758 chr8 110255296 110255296 C G rs542706790 NUDCD1 Nonsynonymous SNV R536T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 170759 chr1 15438828 15438831 TGTG - TMEM51-AS1 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 170760 chr10 19739313 19739313 G C rs117117480 MALRD1 Synonymous SNV L1641L 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign 5.939 170761 chr3 182584164 182584164 G A rs137867476 ATP11B Nonsynonymous SNV A518T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.36 170762 chr10 25887764 25887764 A C rs746570018 GPR158 Nonsynonymous SNV E1070A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.699 170763 chr1 16458894 16458894 C T rs866424508 EPHA2 Synonymous SNV G644G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 170764 chr8 120805621 120805621 C T rs61753748 TAF2 Nonsynonymous SNV G421E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.8 170765 chr11 46687060 46687060 C T rs764975495 ATG13 Nonsynonymous SNV P227L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 170766 chr2 61002203 61002203 G A rs147132893 PAPOLG Synonymous SNV V213V 0 0 0.007 0 0 0 0 2 0 0 0 0 12.09 170767 chr11 122526821 122526821 G C rs150696870 UBASH3B Nonsynonymous SNV V22L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.08 170768 chr1 18618365 18618365 G A rs147043770 IGSF21 Synonymous SNV T63T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.98 170769 chr11 12341291 12341291 C A MICALCL Nonsynonymous SNV S492Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 170770 chr11 123600380 123600380 C T rs145114988 ZNF202 Nonsynonymous SNV A186T 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 4.873 170771 chr3 186256724 186256724 C T CRYGS Nonsynonymous SNV E100K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 170772 chr1 19499582 19499582 T A UBR4 Synonymous SNV S1099S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 170773 chr8 14022204 14022204 A C SGCZ Nonsynonymous SNV D110E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.908 170774 chr4 265272 265272 A G rs879989199 ZNF732 Synonymous SNV S458S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.169 170775 chr2 97505975 97505975 C T ANKRD23 Synonymous SNV R206R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 170776 chr10 52566514 52566514 C T rs530902814 A1CF Nonsynonymous SNV R579Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27 170777 chr1 27278178 27278178 C T rs756134971 KDF1 Nonsynonymous SNV G232S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 170778 chr1 27721276 27721276 G A rs145491319 GPR3 Nonsynonymous SNV R325H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 170779 chr7 37936630 37936630 C T rs749049858 NME8 Nonsynonymous SNV A568V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.7 170780 chr3 109128874 109128874 A G rs563453283 LINC01205 0 0 0.003 0 0 0 0 1 0 0 0 0 3.517 170781 chr11 128844389 128844389 G A rs1052329603 ARHGAP32 Synonymous SNV V538V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 170782 chr8 145010030 145010030 G A rs782030366 PLEC Synonymous SNV I182I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.52 170783 chr1 161967785 161967785 G A rs575795425 OLFML2B Nonsynonymous SNV P436L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.956 170784 chr7 4245589 4245589 C T rs61738675 SDK1 Nonsynonymous SNV P213L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.3 170785 chr4 3255141 3255141 C T rs776064106 MSANTD1 Synonymous SNV C176C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.53 170786 chr3 112969626 112969626 G T BOC Nonsynonymous SNV A108S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.7 170787 chr11 16068174 16068174 C T rs373068695 SOX6 Synonymous SNV A476A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 170788 chr3 120357399 120357401 AGC - HGD A303del 0 0 0.003 0 0 0 0 1 0 0 0 0 170789 chr11 554980 554980 C G rs773762661 LMNTD2 X635Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.252 170790 chr11 19077718 19077718 A G rs79763999 MRGPRX2 Nonsynonymous SNV F78L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.059 170791 chr7 50607753 50607753 G A rs184592700 DDC-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.707 170792 chr7 50673032 50673032 C T rs200010618 GRB10 Synonymous SNV P402P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.2 170793 chr1 43212720 43212720 C T P3H1 Nonsynonymous SNV G760R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 170794 chr4 17661610 17661610 G T FAM184B Nonsynonymous SNV Q599K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 16.32 170795 chr3 124369671 124369671 C T rs56098940 KALRN Nonsynonymous SNV S164L 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 22.1 170796 chr1 182555653 182555653 T G rs56250729 RNASEL Nonsynonymous SNV I97L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 23.1 170797 chr3 128292042 128292042 T C LINC01565 0 0 0.003 0 0 0 0 1 0 0 0 0 3.893 170798 chr4 39098355 39098355 T C rs755191481 KLHL5 Nonsynonymous SNV I371T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.36 170799 chr4 39450295 39450295 G A rs143809363 KLB Nonsynonymous SNV V1042I 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Likely benign 19.76 170800 chr3 12942834 12942834 G A IQSEC1 Nonsynonymous SNV P998L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 170801 chr11 31086081 31086081 C T rs201930687 DCDC1 Synonymous SNV T842T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.857 170802 chr11 3239891 3239891 C G rs913540858 MRGPRG Synonymous SNV L51L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.023 170803 chr4 41016255 41016255 G T rs200300140 APBB2 Nonsynonymous SNV N60K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.38 170804 chr11 32635670 32635670 T G rs374420306 CCDC73 Nonsynonymous SNV S732R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.838 170805 chr7 76024632 76024632 G A rs750850278 SSC4D Nonsynonymous SNV T295M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.68 170806 chr1 53793511 53793511 - GCA rs772204987 LRP8 L24_Q25insL 0.001 0.008 0 2 1 3 0.005 0 0 1 0 0 170807 chr8 29989824 29989824 G A rs375639989 MBOAT4 Stop gain R315X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.1 170808 chr4 48577148 48577148 G A rs772106986 FRYL Synonymous SNV N944N 0.001 0.008 0.007 2 1 3 0.005 2 0 0 0 0 9.061 170809 chr10 94294443 94294443 C T rs528804574 IDE Nonsynonymous SNV S128N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 170810 chr8 30889861 30889861 G A rs138893308 PURG Synonymous SNV S146S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.396 170811 chr11 62414547 62414547 A G INTS5 Nonsynonymous SNV F1002S 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 170812 chr11 62434492 62434492 A G rs200288660 CSKMT Nonsynonymous SNV Y231C 0 0.005 0 0 0 2 0 0 0 0 0 0 26.1 170813 chr4 57211455 57211455 G A AASDH Synonymous SNV G345G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 170814 chr4 57211456 57211456 C A AASDH Nonsynonymous SNV G345V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 170815 chr4 57843114 57843114 C G rs200929636 NOA1 Nonsynonymous SNV G213A 0.003 0.003 0.031 1 4 1 0.003 9 0 0 1 0 5.601 170816 chr1 202735634 202735634 - A rs758523577 KDM5B 0.001 0.003 0 0 1 1 0 0 0 0 0 0 170817 chr3 14209830 14209830 G C rs755825264 XPC Nonsynonymous SNV R155G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.645 170818 chr8 41834704 41834704 A C rs111806051 KAT6A Nonsynonymous SNV D395E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 0.856 170819 chr11 63277329 63277329 G A rs763190239 LGALS12 Nonsynonymous SNV G112D 0 0.005 0 0 0 2 0 0 0 0 0 0 27.8 170820 chr3 142430833 142430833 T C PLS1 Nonsynonymous SNV L625P 0 0 0.003 0 0 0 0 1 0 0 0 0 28 170821 chr10 99219416 99219416 C T rs200068411 MMS19 Synonymous SNV T815T 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 11.33 170822 chr7 94898626 94898626 G A rs374685907 PPP1R9A Synonymous SNV P937P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.65 170823 chr8 57128950 57128950 C A CHCHD7 Synonymous SNV I19I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.896 170824 chr11 47776156 47776156 T C rs34962598 FNBP4 Nonsynonymous SNV E127G 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign 17.51 170825 chr3 151474801 151474801 A G AADACL2 Nonsynonymous SNV K209E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 170826 chr3 15499703 15499703 C T rs778740405 COLQ Nonsynonymous SNV R281Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 170827 chr3 15711889 15711889 A G rs368821167 ANKRD28 Nonsynonymous SNV I863T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.3 170828 chr3 160395483 160395483 C A rs35633732 ARL14 Nonsynonymous SNV P117T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.8 170829 chr4 83782828 83782828 C T SEC31A Nonsynonymous SNV D523N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 170830 chr3 168834246 168834246 C T rs750829949 MECOM Nonsynonymous SNV A284T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.61 170831 chr3 169684447 169684447 G A rs114016802 LOC100128164 0 0 0.007 0 0 0 0 2 0 0 0 0 7.367 170832 chr3 179085306 179085306 A G rs751420683 MFN1 Nonsynonymous SNV N278S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 170833 chr11 608145 608145 G A rs746823568 PHRF1 Nonsynonymous SNV G897R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.641 170834 chr3 182871685 182871685 C T rs774368709 LAMP3 Nonsynonymous SNV G182S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.218 170835 chr3 183476697 183476697 A G rs151134207 YEATS2 Nonsynonymous SNV T534A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.15 170836 chr11 67209291 67209291 C G rs145707942 CORO1B Nonsynonymous SNV E123Q 0.005 0.01 0.01 0 6 4 0 3 0 0 0 0 24.2 170837 chr8 95172247 95172247 C T rs561736032 CDH17 Synonymous SNV G501G 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 10.7 170838 chr11 67378575 67378575 C T rs906813597 NDUFV1 Synonymous SNV N261N 0 0.005 0 0 0 2 0 0 0 0 0 0 11.1 170839 chr11 67925776 67925776 T C rs36089209 KMT5B Synonymous SNV T507T 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign 8.512 170840 chr11 68029518 68029518 A G rs7107558 C11orf24 Synonymous SNV P315P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.263 170841 chr1 223940635 223940635 C T rs145466296 CAPN2 Nonsynonymous SNV A293V 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 33 170842 chr8 99170164 99170164 A G POP1 Nonsynonymous SNV K914E 0 0.003 0 4 0 1 0.01 0 0 0 0 0 15.6 170843 chr11 68529009 68529009 A G CPT1A Synonymous SNV L674L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.904 170844 chr9 101787280 101787280 C A rs138655830 COL15A1 Nonsynonymous SNV P660Q 0 0.005 0 0 0 2 0 0 0 0 0 0 12.42 170845 chr9 104239241 104239241 C T rs140612519 TMEM246 Nonsynonymous SNV R45Q 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 22.9 170846 chr9 104307067 104307067 A C rs186628324 RNF20 Nonsynonymous SNV E216A 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 22.9 170847 chr9 108270924 108270924 A C FSD1L Nonsynonymous SNV N243H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26 170848 chr11 72415279 72415279 C T rs748983550 ARAP1 Nonsynonymous SNV R392Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 170849 chr8 142229904 142229904 T C rs61995884 SLC45A4 Nonsynonymous SNV N101S 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 0.001 170850 chr4 123663288 123663288 T C rs768973035 BBS12 Nonsynonymous SNV Y81H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.93 170851 chr11 75378545 75378545 G A rs756424562 MAP6 Synonymous SNV R290R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.73 170852 chr11 76506870 76506870 G A rs772955214 TSKU Synonymous SNV L70L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.746 170853 chr11 114453403 114453403 G A rs200548586 NXPE4 Nonsynonymous SNV A146V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.53 170854 chr4 128629763 128629763 A G rs1044631827 INTU Nonsynonymous SNV H770R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.41 170855 chr1 117491915 117491915 G A rs773910797 PTGFRN Nonsynonymous SNV E312K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 170856 chr9 125140276 125140276 G A rs199631305 PTGS1 Nonsynonymous SNV G65S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 35 170857 chr11 85459381 85459381 T G SYTL2 Synonymous SNV R63R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 170858 chr4 155411484 155411484 C A DCHS2 Nonsynonymous SNV G342W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 170859 chr4 156136041 156136041 C T NPY2R Nonsynonymous SNV S317F 0 0 0 1 0 0 0.003 0 0 0 0 0 26 170860 chr1 145415423 145415423 G C rs782121676 HJV Nonsynonymous SNV R81P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.7 170861 chr1 151748578 151748578 G A rs193006759 TDRKH Nonsynonymous SNV A404V 0.008 0 0.003 0 9 0 0 1 0 0 0 0 17.82 170862 chr1 151748579 151748579 C A rs184233380 TDRKH Nonsynonymous SNV A404S 0.008 0 0.003 0 9 0 0 1 0 0 0 0 16.69 170863 chr1 151774888 151774888 G T rs61732470 LINGO4 Nonsynonymous SNV T98N 0.008 0 0.003 0 9 0 0 1 0 0 0 0 0.024 170864 chr4 177632786 177632786 G C rs774139549 VEGFC Nonsynonymous SNV P191A 0.009 0.003 0 2 10 1 0.005 0 0 0 0 0 25.4 170865 chr3 46795301 46795301 T C rs528974901 PRSS43P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.527 170866 chr3 47465430 47465430 G T rs375622474 SCAP Synonymous SNV I126I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.77 170867 chr9 131477455 131477455 C A rs114084183 PKN3 Nonsynonymous SNV P553T 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 0 0.244 170868 chr11 5730349 5730349 T A rs905883489 TRIM22 Nonsynonymous SNV V319E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 170869 chr2 3196244 3196244 G A rs144297650 EIPR1 Synonymous SNV F166F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.54 170870 chr11 763398 763398 C T TALDO1 Synonymous SNV F172F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.1 170871 chr4 187131739 187131739 C T CYP4V2 Nonsynonymous SNV R508C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 170872 chr3 51749360 51749360 C T rs202090485 GRM2 Nonsynonymous SNV P146L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.7 170873 chr3 52525477 52525477 G A rs372434074 NISCH Synonymous SNV S1284S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 11.58 170874 chr3 52836412 52836412 C T rs767956822 ITIH3 Synonymous SNV N482N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 170875 chr12 110873948 110873948 T C rs757510145 ARPC3 Synonymous SNV K147K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.08 170876 chr12 110874454 110874454 T C rs151211238 ARPC3 Nonsynonymous SNV Y96C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 170877 chr2 27302074 27302074 G T rs897832283 EMILIN1 Nonsynonymous SNV Q47H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.7 170878 chr5 13786382 13786382 C T rs756069405 DNAH5 Nonsynonymous SNV R2909H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 170879 chr3 65456135 65456135 T C rs113860090 MAGI1 Nonsynonymous SNV H261R 0.003 0.008 0.024 1 3 3 0.003 7 0 0 0 0 6.662 170880 chr9 139273410 139273410 C T SNAPC4 Nonsynonymous SNV A957T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 170881 chr12 113545949 113545949 C T rs757817797 RASAL1 Nonsynonymous SNV D485N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.64 170882 chr5 31305313 31305313 C A rs773131961 CDH6 Synonymous SNV T344T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.8 170883 chr11 20070532 20070532 C T rs756746120 NAV2 Synonymous SNV N473N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.59 170884 chr2 32640782 32640782 A G rs144578684 BIRC6 Nonsynonymous SNV Q808R 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 16.49 170885 chr5 37183080 37183080 A C rs369286097 CPLANE1 Nonsynonymous SNV L1735V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 170886 chr2 37449577 37449577 C T rs62001874 CEBPZ Nonsynonymous SNV V671I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.004 170887 chr12 1017166 1017166 G T rs770327670 WNK1 Nonsynonymous SNV G2018V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 29.7 170888 chr11 63594548 63594548 C G SPINDOC Synonymous SNV P361P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.503 170889 chr11 27148885 27148885 G A rs117367252 BBOX1 Nonsynonymous SNV R350H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 170890 chr11 64108381 64108381 C T CCDC88B Nonsynonymous SNV A70V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.4 170891 chr9 17226245 17226245 T G CNTLN Nonsynonymous SNV I165S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 170892 chr11 30921124 30921124 G T rs370461790 DCDC1 Nonsynonymous SNV L681I 0 0.005 0 0 0 2 0 0 0 0 0 0 22.5 170893 chr4 110409933 110409933 A T rs77639117 MIR576 0 0 0.027 0 0 0 0 8 0 0 0 0 4.681 170894 chr11 3392260 3392260 C T ZNF195 Synonymous SNV E57E 0 0.005 0 0 0 2 0 0 0 0 0 0 12.57 170895 chr4 115997521 115997521 T C rs146965854 NDST4 Synonymous SNV Q224Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.009 170896 chr4 119200363 119200363 C T SNORA24 0 0 0.003 0 0 0 0 1 0 0 0 0 19.33 170897 chr11 65363201 65363201 C G KCNK7 Nonsynonymous SNV V15L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.71 170898 chr5 66461359 66461359 G A rs767639888 MAST4 Nonsynonymous SNV E1857K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 170899 chr12 112280464 112280464 T C rs1016208852 MAPKAPK5-AS1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.312 170900 chr5 68417591 68417591 C A SLC30A5 Nonsynonymous SNV A547D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.07 170901 chr8 87393021 87393021 T C WWP1 Nonsynonymous SNV V46A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.349 170902 chr9 35674247 35674247 A G CA9 Synonymous SNV E97E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.647 170903 chr4 134072986 134072986 T C rs769577344 PCDH10 Nonsynonymous SNV I564T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 170904 chr4 143045853 143045853 A G rs36028457 INPP4B Nonsynonymous SNV V594A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 170905 chr5 77471501 77471501 C G rs76433453 AP3B1 Synonymous SNV L323L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.99 170906 chr11 67191327 67191327 G A rs202022654 CARNS1 Nonsynonymous SNV R580Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.58 170907 chr11 67219242 67219242 G C rs145897875 GPR152 Nonsynonymous SNV C318W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.55 170908 chr5 79854793 79854793 G A rs143937500 ANKRD34B Nonsynonymous SNV T349I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.675 170909 chr1 192997082 192997082 G A rs766873272 UCHL5 Synonymous SNV D231D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 2.783 170910 chr11 67817678 67817678 C T rs141601593 TCIRG1 Synonymous SNV T515T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 17.83 170911 chr2 74756499 74756499 C G rs201225621 AUP1 Nonsynonymous SNV V60L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.96 170912 chr11 6807000 6807000 C G OR2AG1 Nonsynonymous SNV H244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 170913 chr2 79313608 79313608 G A rs757178413 REG1B Nonsynonymous SNV S69L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 170914 chr5 86659312 86659312 T C RASA1 Nonsynonymous SNV L534P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 170915 chr9 108287128 108287128 C T RALGAPA1P1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.524 170916 chr12 29596338 29596338 T C rs373027667 OVCH1 Nonsynonymous SNV H1073R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 170917 chr9 86616692 86616692 C - RMI1 S265Qfs*42 0 0.003 0 0 0 1 0 0 0 0 0 0 170918 chr5 118728858 118728858 G C TNFAIP8 Nonsynonymous SNV V117L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 170919 chr11 76796022 76796022 C T rs34236021 CAPN5 Synonymous SNV P30P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.16 170920 chr9 120053695 120053695 G A rs2297697 ASTN2 Synonymous SNV S180S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.01 170921 chr4 187628840 187628840 C T rs758056252 FAT1 Synonymous SNV P714P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.277 170922 chr5 127277051 127277051 G A rs555688955 CCDC192 Nonsynonymous SNV R257Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.033 170923 chr11 78780871 78780871 C G TENM4 Nonsynonymous SNV S40T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 170924 chr4 25419311 25419311 A T ANAPC4 Nonsynonymous SNV M718L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 170925 chrX 13767575 13767575 G A rs778507612 OFD1 Synonymous SNV R286R 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Likely benign 12.13 170926 chr9 12709081 12709081 C T rs41303651 TYRP1 Nonsynonymous SNV R505C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.3 170927 chr5 138755842 138755842 G C rs148353111 DNAJC18 Nonsynonymous SNV D284E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.14 170928 chr9 130523901 130523901 C T rs773488124 SH2D3C Nonsynonymous SNV D25N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.6 170929 chr1 222920029 222920029 G C rs143780662 FAM177B Nonsynonymous SNV E48Q 0.004 0 0 0 5 0 0 0 0 0 0 0 1.862 170930 chr4 39929650 39929650 T C rs376578280 PDS5A Synonymous SNV A91A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.682 170931 chr5 140057243 140057243 G A rs1131035 HARS1 Synonymous SNV D128D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.61 170932 chr9 131107764 131107764 T C rs139914381 SLC27A4 Synonymous SNV A164A 0 0 0 5 0 0 0.013 0 0 0 0 0 Benign 0.355 170933 chr9 131284955 131284955 G A rs778110977 GLE1 Synonymous SNV L147L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.097 170934 chr12 53070155 53070155 C T rs777516621 KRT1 Nonsynonymous SNV R460H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 170935 chr4 517440 517440 G A rs771358035 PIGG Nonsynonymous SNV G470S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 170936 chr5 140719186 140719186 T G PCDHGA2 Nonsynonymous SNV D216E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 170937 chr2 166618454 166618454 C A rs114933655 GALNT3 Nonsynonymous SNV V267F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.5 170938 chr4 57350949 57350949 C T rs201570324 SRP72 Synonymous SNV P274P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 170939 chr12 53776424 53776424 A G rs183433569 SP1 Synonymous SNV L183L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.604 170940 chr12 54115879 54115879 C T rs150332172 CALCOCO1 Nonsynonymous SNV R147Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 170941 chr4 6303246 6303246 C G rs71524360 WFS1 Nonsynonymous SNV A575G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.3 170942 chr1 228509589 228509589 G A rs56249237 OBSCN Nonsynonymous SNV R5016Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 34 170943 chr12 56213182 56213182 A G rs766301474 ORMDL2 Synonymous SNV Q77Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.091 170944 chr4 69962375 69962375 T C rs61361928 UGT2B7 Nonsynonymous SNV L46P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 22.6 170945 chr12 56531634 56531634 C T rs746847546 ESYT1 Nonsynonymous SNV P722S 0 0.003 0 0 0 1 0 0 0 0 0 0 26 170946 chr2 176957822 176957822 - GCGGCA rs775525473 HOXD13 A71_S72insAA 0 0.003 0 0 0 1 0 0 0 0 0 0 170947 chr10 100202883 100202883 C T HPS1 Nonsynonymous SNV E39K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 170948 chr10 101478204 101478204 T C rs762093394 COX15 Nonsynonymous SNV M296V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 170949 chr12 57110968 57110968 G A rs773687537 NACA Nonsynonymous SNV T1449I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 170950 chr2 179472256 179472256 A G rs201358641 TTN Nonsynonymous SNV I8655T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.12 170951 chr2 179516261 179516261 G T rs72650064 TTN Nonsynonymous SNV P10722T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.93 170952 chr4 76902615 76902615 G C rs373705430 SDAD1 Nonsynonymous SNV H68Q 0 0 0.01 0 0 0 0 3 0 0 0 0 15.15 170953 chr12 57906691 57906691 C T MARS1 Synonymous SNV D637D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 170954 chr12 112280565 112280565 G A rs535440906 MAPKAPK5 Nonsynonymous SNV A10T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.59 170955 chr10 102777931 102777931 C T rs76941691 PDZD7 Nonsynonymous SNV D483N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.67 170956 chr12 58166502 58166525 GGCCGGATGGCGGACCCCGGCCCA - EEF1AKMT3 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 170957 chr10 103917014 103917014 C G rs770624197 NOLC1 Nonsynonymous SNV A82G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 170958 chr4 79400534 79400534 C G rs763117705 FRAS1 Nonsynonymous SNV A2702G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 170959 chr9 140063764 140063764 G A rs374031826 LRRC26 Nonsynonymous SNV P211L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 170960 chr9 140247109 140247109 C T rs973453720 EXD3 Nonsynonymous SNV V334M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 170961 chr4 83626557 83626557 C T SCD5 Nonsynonymous SNV C81Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 170962 chr4 84234410 84234410 G C rs200013026 HPSE Nonsynonymous SNV A177G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 170963 chr12 53189342 53189342 C T KRT3 Nonsynonymous SNV G162D 0.003 0.01 0 0 4 4 0 0 0 0 0 0 14.12 170964 chr4 87610255 87610255 G A PTPN13 Nonsynonymous SNV C153Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 170965 chr12 122618417 122618417 G T rs34702867 MLXIP Nonsynonymous SNV V539L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.44 170966 chr12 122674807 122674807 T C rs77473460 LRRC43 Nonsynonymous SNV Y265H 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 9.455 170967 chr12 122691058 122691058 T C rs35203505 B3GNT4 Nonsynonymous SNV L62P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 13.54 170968 chr12 122692958 122692958 C T rs35426428 DIABLO Synonymous SNV S133S 0.003 0.005 0.007 0 3 2 0 2 0 0 1 0 Benign 12.1 170969 chr12 123341199 123341199 A C rs7972242 HIP1R Nonsynonymous SNV K516Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 5.008 170970 chr2 198274609 198274609 C T rs769954573 SF3B1 Synonymous SNV A263A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.82 170971 chr12 123749834 123749834 G A rs76783415 CDK2AP1 Synonymous SNV Y35Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.977 170972 chr4 95539295 95539295 C T PDLIM5 Nonsynonymous SNV S29F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 170973 chr4 956364 956364 G C rs61757581 DGKQ Synonymous SNV G691G 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 6.891 170974 chr5 176402450 176402450 G A rs139702777 UIMC1 Nonsynonymous SNV T60M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 170975 chr4 96141241 96141241 A G rs761095905 UNC5C Synonymous SNV L399L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.743 170976 chr4 985440 985440 G A rs142648939 SLC26A1 Stop gain R18X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 170977 chr10 119078391 119078391 T G rs138899307 PDZD8 Nonsynonymous SNV I364L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 170978 chr11 62678075 62678075 G A CHRM1 Synonymous SNV Y166Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.706 170979 chr5 176823990 176823990 C T rs752434569 SLC34A1 Nonsynonymous SNV T444I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 170980 chr2 10563145 10563145 C T HPCAL1 Nonsynonymous SNV P139S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 170981 chr9 6007694 6007694 C T rs759027660 KIAA2026 Nonsynonymous SNV V32M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.876 170982 chr2 15378730 15378730 T C rs754126585 NBAS Synonymous SNV R1935R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.495 170983 chr10 131646728 131646728 G T EBF3 Synonymous SNV T343T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.821 170984 chr5 1363953 1363953 T G rs62329729 LINC01511 0 0 0.041 0 0 0 0 12 0 0 0 0 5.759 170985 chr5 137680848 137680848 G C rs140173423 FAM53C Nonsynonymous SNV Q157H 0.003 0.003 0.014 1 4 1 0.003 4 0 0 0 0 14.54 170986 chr2 219525836 219525836 A G rs144200704 BCS1L Synonymous SNV A42A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.164 170987 chr10 135044812 135044812 G A rs192492967 UTF1 Nonsynonymous SNV D298N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 170988 chr2 220101998 220101998 G A rs141680556 GLB1L Synonymous SNV Y497Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.953 170989 chr10 13698924 13698929 CGCCGC - rs772283361 FRMD4A G578_G579del 0.003 0 0 0 3 0 0 0 0 0 0 0 170990 chr11 66627555 66627555 C T rs777732491 LRFN4 Synonymous SNV R599R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.406 170991 chr5 140249152 140249152 A T PCDHA11 Nonsynonymous SNV E155V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 170992 chr12 311940 311940 C A rs1044903533 SLC6A12 Synonymous SNV L152L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 16.24 170993 chr6 24596837 24596837 C A rs529788093 KIAA0319 Nonsynonymous SNV R16L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.24 170994 chr2 220420910 220420910 C T rs749067992 OBSL1 Nonsynonymous SNV V1481M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.2 170995 chr5 140725481 140725481 C T rs199541335 PCDHGA3 Synonymous SNV R627R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.845 170996 chr5 140774749 140774749 C T rs143509166 PCDHGA8 Nonsynonymous SNV S790F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 170997 chr2 220479937 220479937 G T rs770663524 STK11IP Nonsynonymous SNV E997D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 170998 chr6 26189176 26189176 G A rs757687288 H4C4 Synonymous SNV G43G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.247 170999 chr6 26205070 26205070 G C rs145407769 H4C5 Synonymous SNV V66V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.618 171000 chr2 223797966 223797966 A G rs779958934 ACSL3 Synonymous SNV P605P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.773 171001 chr2 224849579 224849579 C T rs754639728 SERPINE2 Synonymous SNV P258P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.34 171002 chr5 14692993 14692993 C T rs771800109 OTULIN Nonsynonymous SNV R299C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 171003 chr6 27115160 27115160 C T rs143700242 H2AC12 Stop gain Q85X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 171004 chr12 43821179 43821179 T C ADAMTS20 Nonsynonymous SNV K1347E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 171005 chr11 70028643 70028643 G A rs140131906 ANO1 Synonymous SNV P813P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 171006 chr6 32609855 32609855 A C rs1048173 HLA-DQA1 Synonymous SNV T146T 0 0 0.007 2 0 0 0.005 2 0 0 1 1 0.002 171007 chrX 151821413 151821413 G A GABRQ Nonsynonymous SNV G523D 0.003 0 0 2 3 0 0.005 0 1 0 0 1 23.3 171008 chr6 33648115 33648115 G T rs201403734 ITPR3 Nonsynonymous SNV A1412S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.7 171009 chrX 153069506 153069506 G C rs782274657 PDZD4 Nonsynonymous SNV R429G 0.004 0 0 4 5 0 0.01 0 1 0 0 1 10.15 171010 chr6 34003832 34003832 C T rs371727655 GRM4 Synonymous SNV K569K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.515 171011 chr2 235950587 235950587 A G SH3BP4 Nonsynonymous SNV I392V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.006 171012 chr13 39263317 39263317 C T rs768034718 FREM2 Synonymous SNV L612L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.209 171013 chr5 167625948 167625948 G A rs113807997 TENM2 Synonymous SNV P765P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.685 171014 chr6 41001653 41001653 C T rs145770641 UNC5CL Nonsynonymous SNV R218Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 14.34 171015 chr13 108518588 108518588 T C rs375872943 FAM155A Synonymous SNV A119A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 171016 chr2 66666745 66666745 C T rs752622037 MEIS1-AS2 0.003 0 0 0 3 0 0 0 0 0 0 0 16.93 171017 chr13 110436297 110436302 CGGCGG - rs772502170 IRS2 A700_A701del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 171018 chr11 798086 798086 C G rs189558877 PANO1 Nonsynonymous SNV P154R 0.001 0.008 0.003 0 1 3 0 1 0 1 0 0 2.424 171019 chr10 49791037 49791037 C T ARHGAP22 Synonymous SNV Q65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 171020 chr10 50531862 50531862 C T rs746142343 C10orf71 Synonymous SNV N424N 0.002 0 0 0 2 0 0 0 0 0 0 0 2.155 171021 chr12 53242044 53242044 A T rs558933505 KRT78 Nonsynonymous SNV H4Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.39 171022 chr2 74089382 74089382 G A rs780714201 STAMBP Nonsynonymous SNV R289Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 171023 chr10 61831945 61831945 C T ANK3 Nonsynonymous SNV M2898I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 171024 chr6 49456150 49456150 G T rs748830925 CENPQ Nonsynonymous SNV S188I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.57 171025 chr13 99537990 99537990 C G rs146038138 DOCK9 Synonymous SNV T745T 0.01 0.01 0.007 2 12 4 0.005 2 0 0 0 0 13.47 171026 chr6 51732719 51732719 C G rs150046042 PKHD1 Nonsynonymous SNV V2559L 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Uncertain significance 0.053 171027 chr5 32774874 32774874 G A NPR3 Nonsynonymous SNV E117K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 171028 chr12 56638455 56638455 G A rs201117129 ANKRD52 Synonymous SNV N901N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 171029 chr12 56737739 56737739 A G rs975828001 STAT2 Synonymous SNV P761P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 171030 chr5 35700837 35700837 G A rs200782940 SPEF2 Nonsynonymous SNV R794H 0 0 0.007 0 0 0 0 2 0 0 0 0 27.9 171031 chr5 35965611 35965611 A G rs61733467 UGT3A1 Synonymous SNV L240L 0 0 0.01 0 0 0 0 3 0 0 0 0 0.615 171032 chr13 33703738 33703738 C T rs200449699 STARD13 Nonsynonymous SNV R351H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 171033 chr6 57013351 57013351 T C rs142771940 ZNF451 Nonsynonymous SNV F823S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.521 171034 chr3 25215987 25215987 C T rs552167642 RARB Synonymous SNV I33I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.33 171035 chr3 36931372 36931372 G A rs370857220 TRANK1 Synonymous SNV G241G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 6.273 171036 chr3 38181942 38181942 A G rs764428425 MYD88 Nonsynonymous SNV Q131R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.29 171037 chr10 7763654 7763654 T C rs760281770 ITIH2 Nonsynonymous SNV C261R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 171038 chr5 54674963 54674963 T C rs139182599 MTREX Synonymous SNV N664N 0.006 0 0.014 1 7 0 0.003 4 1 0 0 0 4.96 171039 chr5 57838048 57838048 G A rs74530169 LINC02108 0 0 0.003 0 0 0 0 1 0 0 0 0 2.955 171040 chr5 63257253 63257253 C T rs6294 HTR1A Synonymous SNV V98V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.6 171041 chr5 63509803 63509803 G C rs376389819 RNF180 Nonsynonymous SNV G217A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.065 171042 chr12 111785445 111785445 G T rs771950559 CUX2 Nonsynonymous SNV Q1197H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 171043 chr12 72148943 72148943 G A rs770090257 RAB21 Nonsynonymous SNV A12T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 171044 chr12 117749335 117749335 T C rs375497770 NOS1 Nonsynonymous SNV N263S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.85 171045 chr3 44369798 44369798 C A TOPAZ1 Nonsynonymous SNV L1578I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 171046 chr6 110726100 110726100 A G rs753000560 DDO Nonsynonymous SNV V112A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.12 171047 chr14 24626537 24626537 C T rs367636904 RNF31 Synonymous SNV F693F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 171048 chr14 102792577 102792577 C T rs749036279 ZNF839 Synonymous SNV L66L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.001 171049 chr12 83289797 83289797 A G TMTC2 Synonymous SNV L40L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.077 171050 chr10 96988424 96988424 A G ACSM6 Synonymous SNV S442S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.273 171051 chr3 45812858 45812858 G A rs144563792 SLC6A20 Synonymous SNV F225F 0.001 0.003 0.014 2 1 1 0.005 4 0 0 0 0 Likely benign 12.74 171052 chr5 79950724 79950724 - CCGCAGCGGCCGCAGCGC rs70991168 MSH3 A62_P63insAAAPAA 0 0 0.02 0 0 0 0 6 0 0 0 0 171053 chr14 31071238 31071238 C T rs200128131 G2E3 Nonsynonymous SNV P258L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 171054 chr10 134736204 134736204 G A rs140185143 CFAP46 Nonsynonymous SNV T422M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14 171055 chr12 122958526 122958526 G A rs150057798 ZCCHC8 Nonsynonymous SNV P471S 0 0.008 0 2 0 3 0.005 0 0 0 0 0 Likely benign 22.6 171056 chr5 90136800 90136800 A C rs41303350 ADGRV1 Nonsynonymous SNV K5673Q 0 0 0.01 0 0 0 0 3 0 0 0 0 9.767 171057 chr3 48696596 48696596 G A rs762873791 CELSR3 Nonsynonymous SNV R1158C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.63 171058 chr12 123342688 123342688 G A rs79610396 HIP1R Nonsynonymous SNV E619K 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 18.31 171059 chr6 122774962 122774962 G A rs142096149 SERINC1 Nonsynonymous SNV S181L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 171060 chr14 105179319 105179319 G A rs749197190 INF2 Nonsynonymous SNV R922H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.1 171061 chr6 125284150 125284150 C T rs777176681 RNF217 Nonsynonymous SNV R154C 0 0 0 1 0 0 0.003 0 0 0 0 0 26 171062 chr6 129714400 129714400 G A LAMA2 Synonymous SNV E1815E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.841 171063 chr12 124796389 124796389 C T rs374395268 RFLNA Nonsynonymous SNV P78L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.233 171064 chr3 50197142 50197142 G A rs150227868 SEMA3F Synonymous SNV T29T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.394 171065 chr3 52005665 52005665 G A rs141310936 ABHD14B Nonsynonymous SNV R8C 0.009 0.008 0.003 0 11 3 0 1 0 0 0 0 16.23 171066 chr11 101765609 101765609 C A rs146549224 ANGPTL5 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.1 171067 chr3 52554551 52554551 C T rs141902030 STAB1 Nonsynonymous SNV R1879W 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 171068 chr6 111694908 111694908 T C rs17510914 REV3L Synonymous SNV P1550P 0.006 0.01 0.007 2 7 4 0.005 2 0 0 0 0 Benign 0.009 171069 chr14 52734905 52734905 G T rs748494023 PTGDR Nonsynonymous SNV A125S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.8 171070 chr6 149997861 149997861 C T rs542611119 LATS1 Nonsynonymous SNV R589Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 171071 chr14 57947392 57947392 T G CCDC198 Nonsynonymous SNV K191N 0 0.005 0 0 0 2 0 0 0 0 0 0 26.1 171072 chr2 177053620 177053620 G A rs750247936 HOXD1 Nonsynonymous SNV D31N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 171073 chr14 58949333 58949333 C T rs372259984 KIAA0586 Nonsynonymous SNV T876I 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23.8 171074 chr14 62567295 62567295 G A rs747375303 SYT16 Nonsynonymous SNV R422H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 171075 chr11 104872823 104872823 C T rs3181326 CASP5 Nonsynonymous SNV V75M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.999 171076 chr6 152679532 152679532 A C rs192623867 SYNE1 Nonsynonymous SNV H3535Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.89 171077 chr11 1083147 1083147 G A MUC2 Nonsynonymous SNV E683K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 171078 chr6 13295558 13295558 C T LOC100130357 0 0 0.003 0 0 0 0 1 0 0 0 0 0.583 171079 chr13 26624856 26624856 G A rs763571426 SHISA2 Synonymous SNV G86G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.64 171080 chr14 69349683 69349683 C T rs779454401 ACTN1 Synonymous SNV V575V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 16.95 171081 chr3 98109849 98109849 C A rs142732191 OR5K3 Nonsynonymous SNV L114I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.3 171082 chr14 69808442 69808442 C A rs751622079 GALNT16 Nonsynonymous SNV S411Y 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.3 171083 chr13 31526877 31526877 A G rs145168779 TEX26 Nonsynonymous SNV Y76C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 171084 chr14 73721627 73721627 A G rs149967580 PAPLN Nonsynonymous SNV I510V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 171085 chr10 50340180 50340180 G A rs368576482 FAM170B Synonymous SNV Y110Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.07 171086 chr12 29904766 29904766 G A rs369978386 TMTC1 Synonymous SNV P257P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 171087 chr13 37679170 37679170 T - CSNK1A1L H75Pfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 171088 chr14 38208179 38208180 AT - TTC6 M744Vfs*15 0.003 0 0 3 4 0 0.008 0 0 0 0 0 171089 chr11 117780583 117780583 G A TMPRSS13 Synonymous SNV H314H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.074 171090 chr6 151670330 151670332 AGG - rs111963593 AKAP12 G164del 0.001 0 0.01 0 1 0 0 3 0 0 1 0 171091 chr12 32791628 32791628 A G FGD4 Nonsynonymous SNV S464G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.54 171092 chr10 54076341 54076341 C A DKK1 Stop gain S192X 0 0 0 2 0 0 0.005 0 0 0 0 0 37 171093 chr6 152540300 152540300 G T rs35106977 SYNE1 Synonymous SNV G7223G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.624 171094 chr7 299892 299892 C T FAM20C Synonymous SNV H567H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.715 171095 chr13 49281223 49281223 G A rs142252868 CYSLTR2 Synonymous SNV T90T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 9.603 171096 chr14 51712050 51712050 C G TMX1 Nonsynonymous SNV I96M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.09 171097 chr6 155451432 155451432 C A rs535604546 TIAM2 Nonsynonymous SNV P359T 0 0 0.007 0 0 0 0 2 0 0 0 0 28.5 171098 chr14 91666099 91666099 A C rs144412215 DGLUCY 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23 171099 chr7 1594949 1594949 C T rs138917702 TMEM184A Nonsynonymous SNV V58I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 171100 chr14 93399169 93399169 G A rs729939 CHGA Synonymous SNV E270E 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 3.732 171101 chr14 93407918 93407918 G A rs371431254 ITPK1 Synonymous SNV A292A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.6 171102 chr14 93650465 93650465 A C rs144334373 MOAP1 Synonymous SNV A41A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.025 171103 chr7 5266922 5266922 C A WIPI2 Nonsynonymous SNV F261L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 171104 chr10 70968382 70968382 A G rs200270601 SUPV3L1 Nonsynonymous SNV D322G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 30 171105 chr3 123036910 123036910 C T rs201333022 ADCY5 Nonsynonymous SNV V421I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.8 171106 chr14 60600839 60600839 C T rs759203672 PCNX4 Nonsynonymous SNV A906V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 171107 chr14 95054152 95054152 G A rs148546597 SERPINA5 Synonymous SNV T151T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.525 171108 chr14 61517289 61517289 G C rs755955240 SLC38A6 Nonsynonymous SNV V329L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.238 171109 chr14 101195354 101195354 C T rs140558508 DLK1 Synonymous SNV P71P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.46 171110 chr14 65511160 65511160 A G CHURC1-FNTB, FNTB Synonymous SNV Q318Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.21 171111 chr6 170169738 170169738 A G rs151283330 ERMARD Nonsynonymous SNV N262D 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.631 171112 chr11 12495365 12495365 C T PARVA Synonymous SNV P70P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 171113 chr3 126180789 126180789 A G ZXDC Synonymous SNV S572S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.483 171114 chr10 73475760 73475760 C T rs200650849 C10orf105 Nonsynonymous SNV R112Q 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 8.846 171115 chr3 128631441 128631441 G C ACAD9 Nonsynonymous SNV R619S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 171116 chr4 3076624 3076624 - CAGCAGCAGCAGCAG HTT Q38_P39insQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 171117 chr6 25983905 25983905 C A rs143607088 TRIM38 Nonsynonymous SNV P463Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.78 171118 chr10 77158588 77158588 G A rs1053391 ZNF503 Synonymous SNV P620P 0.005 0.008 0.007 4 6 3 0.01 2 0 0 0 0 9.327 171119 chr6 27279227 27279227 G A POM121L2 Synonymous SNV A241A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 171120 chr14 77580603 77580603 C G rs147337363 CIPC Nonsynonymous SNV P381R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.649 171121 chr3 134960118 134960118 T C rs142422340 EPHB1 Synonymous SNV Y825Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.074 171122 chr6 3106011 3106011 A G rs767983633 RIPK1 Synonymous SNV G388G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.697 171123 chr3 135913929 135913929 G A rs147762572 MSL2 Synonymous SNV L9L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.712 171124 chr3 136221470 136221470 C T rs139706322 STAG1 Synonymous SNV E276E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.21 171125 chr3 137787173 137787173 G A rs11917468 DZIP1L Nonsynonymous SNV A551V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 2.179 171126 chr14 81302655 81302655 C T rs1674557 CEP128 Synonymous SNV T317T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 11.34 171127 chr3 137942482 137942482 A G rs140101384 ARMC8 Synonymous SNV L72L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.819 171128 chr11 17118604 17118604 A G PIK3C2A Synonymous SNV Y1062Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.768 171129 chr10 97626081 97626081 G C ENTPD1 Nonsynonymous SNV A354P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.7 171130 chr11 19954923 19954923 C G rs769065678 NAV2 Nonsynonymous SNV P314R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.248 171131 chr7 47842833 47842833 G C rs752673990 PKD1L1 Stop gain S2646X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 171132 chr11 2016977 2016977 T A H19 0.001 0 0 0 1 0 0 0 0 0 0 0 7.415 171133 chr7 48146544 48146544 G T rs148923510 UPP1 Nonsynonymous SNV V34F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 171134 chr3 158390222 158390222 C T rs116725077 LXN Nonsynonymous SNV V16M 0.008 0.005 0.003 3 9 2 0.008 1 0 0 0 0 Likely benign 32 171135 chr6 39082841 39082841 G A SAYSD1 Nonsynonymous SNV R9W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 171136 chr6 39847193 39847193 A G DAAM2 Synonymous SNV K595K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 171137 chr14 23994142 23994142 G A ZFHX2 Nonsynonymous SNV S1670F 0.001 0 0 0 1 0 0 0 0 0 0 0 11 171138 chr7 56007131 56007131 A G rs769863906 ZNF713 Nonsynonymous SNV H242R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.15 171139 chr3 172365824 172365824 G A rs146916910 NCEH1 Synonymous SNV S73S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.72 171140 chr14 31549832 31549832 G A rs74807133 AP4S1 Nonsynonymous SNV M116I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.001 171141 chr15 101562667 101562667 G C rs78739687 LRRK1 Synonymous SNV V644V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.691 171142 chr14 33292015 33292015 A T AKAP6 Nonsynonymous SNV M1666L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 171143 chr15 57731461 57731461 T C CGNL1 Nonsynonymous SNV S422P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.6 171144 chr2 241569492 241569492 G C rs61734451 GPR35 Synonymous SNV A41A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 10.46 171145 chr2 241702685 241702685 G A rs370071963 KIF1A Nonsynonymous SNV T607M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.22 171146 chr14 35871258 35871258 A G NFKBIA Synonymous SNV Y305Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.967 171147 chr14 39565152 39565152 T C rs775178059 SEC23A Synonymous SNV E57E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.757 171148 chr2 242075328 242075328 A G rs777925589 PASK Synonymous SNV L422L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.096 171149 chr12 72028544 72028544 G A rs192652541 ZFC3H1 Nonsynonymous SNV P767L 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 26.2 171150 chr14 45667921 45667921 C T rs144567652 FANCM Stop gain R1905X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 52 171151 chr14 50199421 50199421 G A KLHDC1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 171152 chr7 75894088 75894088 G C rs781824319 SRRM3 Nonsynonymous SNV R227P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 171153 chr11 36596200 36596200 G A rs4151031 RAG1 Nonsynonymous SNV R449K 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.72 171154 chr11 36614561 36614561 G T rs34629171 RAG2 Nonsynonymous SNV F386L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 24.9 171155 chr7 81601176 81601176 G A rs147499376 CACNA2D1 Synonymous SNV N686N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.251 171156 chr3 5025374 5025374 C G BHLHE40 Nonsynonymous SNV D412E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 171157 chr3 190127782 190127782 G A rs752758478 CLDN16 Nonsynonymous SNV R292H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.1 171158 chr6 53778697 53778697 A G LRRC1 Nonsynonymous SNV R346G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 171159 chr4 77172918 77172918 - GGCTCCGGCCGGGGACGTT FAM47E, FAM47E-STBD1 Frameshift insertion V16Afs*141 0.001 0 0 0 1 0 0 0 0 0 0 0 171160 chr14 58605156 58605156 G A rs61748937 ARMH4 Synonymous SNV A307A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.114 171161 chr3 10291082 10291082 G C rs752667287 TATDN2 Synonymous SNV S66S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 171162 chr3 10291083 10291083 C T rs144351497 TATDN2 Nonsynonymous SNV R67W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 171163 chr12 9266131 9266131 A G rs749812846 A2M Nonsynonymous SNV M32T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.94 171164 chr6 66044874 66044874 T C rs778030177 EYS Nonsynonymous SNV R589G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.1 171165 chr7 98553871 98553871 G A rs201623462 TRRAP Nonsynonymous SNV V1989M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 171166 chr6 7246875 7246875 G A RREB1 Nonsynonymous SNV E1343K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 171167 chr14 64564761 64564761 A G rs902790590 SYNE2 Nonsynonymous SNV H4068R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.9 171168 chr7 100420146 100420146 C T EPHB4 Nonsynonymous SNV M185I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 171169 chr6 84925066 84925066 A G rs147915749 CEP162 Nonsynonymous SNV I70T 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 24.3 171170 chr4 2306268 2306268 G C rs200392611 ZFYVE28 Nonsynonymous SNV A570G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.35 171171 chr13 114078625 114078625 G A rs143083124 ADPRHL1 Stop gain R272X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 171172 chr11 499853 499853 G A rs762894127 RNH1 Nonsynonymous SNV P140L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 171173 chr13 28578197 28578197 C G FLT3 Nonsynonymous SNV D992H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 171174 chr3 42242424 42242424 C A TRAK1 Nonsynonymous SNV N361K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 171175 chr4 7735073 7735073 C T rs77094598 SORCS2 Synonymous SNV L1045L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.47 171176 chr13 30854345 30854349 ATAAT - KATNAL1 E58Dfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 171177 chr14 94395213 94395213 G A FAM181A Synonymous SNV K194K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.565 171178 chr15 69689733 69689733 G A LOC145694 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.538 171179 chr15 99459981 99459981 G A rs375617925 IGF1R Nonsynonymous SNV G693S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 171180 chr11 5536896 5536896 C T rs16932225 UBQLNL Nonsynonymous SNV G259D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 171181 chr13 33627943 33627943 C T rs766611991 KL Nonsynonymous SNV R287C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 171182 chr4 8602956 8602956 C A CPZ Nonsynonymous SNV S65R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 171183 chr7 100682843 100682843 C G rs34924040 MUC17 Nonsynonymous SNV P2716A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.011 171184 chr14 95662971 95662971 C G rs776034140 CLMN Nonsynonymous SNV E858Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 171185 chr14 95670573 95670573 C T rs753946996 CLMN Synonymous SNV A371A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 171186 chr7 100853382 100853382 C T rs746812876 PLOD3 Nonsynonymous SNV V559M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.2 171187 chr14 95670729 95670729 A G rs759613385 CLMN Synonymous SNV S319S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.528 171188 chr7 101844765 101844765 C A CUX1 Nonsynonymous SNV Q741K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.75 171189 chr4 13378224 13378224 A G RAB28 Nonsynonymous SNV V173A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 171190 chr15 74467585 74467585 T C rs76808097 ISLR Nonsynonymous SNV M129T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 171191 chr16 13010672 13010672 C T SHISA9 Nonsynonymous SNV H231Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23 171192 chr3 48463856 48463856 G A rs142527941 PLXNB1 Nonsynonymous SNV P435S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 15.27 171193 chr4 36212163 36212163 C T rs75155324 ARAP2 Nonsynonymous SNV V446I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.563 171194 chr7 102957279 102957279 T A rs778114813 DNAJC2 Synonymous SNV S422S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.76 171195 chr7 116593611 116593611 C G rs144972398 ST7 Nonsynonymous SNV T6R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.87 171196 chr7 105221853 105221853 T C EFCAB10 Nonsynonymous SNV K20E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 171197 chr7 120737876 120737876 G A rs547021365 CPED1 Nonsynonymous SNV R247H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.864 171198 chr7 105664860 105664860 G A rs200546105 CDHR3 Nonsynonymous SNV V616I 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.089 171199 chr15 79324510 79324510 G A rs764502610 RASGRF1 Synonymous SNV C369C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 171200 chr11 1298439 1298439 G T TOLLIP Stop gain C76X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.43 171201 chr7 111517227 111517227 T C rs12705801 DOCK4 Nonsynonymous SNV N535D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 17.92 171202 chr4 39276529 39276529 C T rs201597047 WDR19 Nonsynonymous SNV R1063C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 171203 chr3 50380584 50380584 G A rs144295551 ZMYND10 Synonymous SNV L188L 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 9.721 171204 chr7 115596796 115596796 T C rs766134551 TFEC Nonsynonymous SNV I40V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 171205 chr16 1837757 1837757 C T NUBP2 Synonymous SNV S138S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.88 171206 chr15 33955030 33955030 G A rs115321092 RYR3 Nonsynonymous SNV E1767K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 17.14 171207 chr7 128505233 128505233 C T rs117627878 ATP6V1F Nonsynonymous SNV P73L 0.006 0.01 0.014 5 7 4 0.013 4 0 0 0 0 12.2 171208 chr11 1481937 1481937 G A rs778682975 BRSK2 Nonsynonymous SNV R732H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23 171209 chr7 122839967 122839967 G A rs28364172 SLC13A1 Stop gain R12X 0.007 0.008 0.007 3 8 3 0.008 2 0 0 0 0 34 171210 chr13 72147621 72147621 A G DACH1 Nonsynonymous SNV M404T 0 0.005 0 0 0 2 0 0 0 0 0 0 5.324 171211 chr7 129929571 129929571 G T CPA2 Nonsynonymous SNV R415L 0 0 0 2 0 0 0.005 0 0 0 0 0 16.26 171212 chr16 1995607 1995607 G A rs149805239 RPL3L Nonsynonymous SNV H354Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 171213 chr7 128317659 128317659 G A rs186458943 FAM71F2 Nonsynonymous SNV R136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 171214 chr3 56605324 56605324 A G rs140174274 CCDC66 Synonymous SNV Q277Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.219 171215 chr13 95363827 95363827 A G SOX21 Synonymous SNV A159A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.069 171216 chr7 129394908 129394908 G A rs754280971 NRF1 Nonsynonymous SNV A306T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 171217 chr14 101005435 101005435 G T rs146033303 BEGAIN Nonsynonymous SNV P218Q 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Benign 0.159 171218 chr14 101347090 101347090 C T rs73349352 RTL1 Nonsynonymous SNV E1346K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.38 171219 chr7 138946352 138946352 C G rs201612627 UBN2 Synonymous SNV P420P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 171220 chr7 13935509 13935509 G A rs374879140 ETV1 Synonymous SNV N414N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.233 171221 chr15 43020205 43020205 A G rs761702273 CDAN1 Synonymous SNV A965A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.355 171222 chr15 43276107 43276107 G A rs372200839 UBR1 Nonsynonymous SNV R1380C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 171223 chr16 2848596 2848596 G A rs74675777 PRSS41 Synonymous SNV P37P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.279 171224 chr15 92663702 92663702 G A rs77283469 SLCO3A1 Synonymous SNV P339P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.94 171225 chr7 143080292 143080292 A G rs140819301 ZYX Synonymous SNV E269E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 171226 chr15 45433174 45433174 C T rs193117843 DUOX1 Nonsynonymous SNV R491W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26 171227 chr7 148936877 148936877 A G ZNF212 Nonsynonymous SNV E3G 0 0 0 2 0 0 0.005 0 0 0 0 1 32 171228 chr7 148802138 148802138 T C rs776923983 ZNF425 Synonymous SNV P275P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.964 171229 chr15 50223391 50223391 A G rs758664132 ATP8B4 Synonymous SNV L523L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.723 171230 chr7 149488936 149488936 G C rs373281011 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 9.718 171231 chr7 149520887 149520887 C T rs562142975 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 8.186 171232 chr15 51221347 51221347 A G AP4E1 Nonsynonymous SNV I153M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 171233 chr15 52515865 52515865 G A rs749738365 MYO5C Nonsynonymous SNV A1168V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 171234 chr7 150389948 150389948 G A rs752650056 GIMAP2 Nonsynonymous SNV D192N 0 0 0 1 0 0 0.003 0 0 0 0 0 23 171235 chr7 150554785 150554785 G A rs182977889 AOC1 Synonymous SNV P409P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.017 171236 chr7 150217591 150217591 G C rs144503420 GIMAP7 Nonsynonymous SNV E177Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.6 171237 chr3 121132111 121132111 G A rs767675000 STXBP5L Nonsynonymous SNV V1019I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.4 171238 chr7 150774076 150774076 C T rs774510924 FASTK Nonsynonymous SNV R348Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.33 171239 chr7 150558165 150558165 G T rs369339849 AOC1 Synonymous SNV L708L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.243 171240 chr4 99338519 99338519 T C rs199962118 RAP1GDS1 Synonymous SNV D212D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 10.36 171241 chr11 36472874 36472874 C T rs111844956 PRR5L Nonsynonymous SNV T106M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.4 171242 chr7 150815630 150815630 C T rs61740089 AGAP3 Synonymous SNV L294L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.05 171243 chr16 1552064 1552064 C T rs140861723 TELO2 Nonsynonymous SNV P497S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 27.2 171244 chr11 43343656 43343656 G A rs140654326 API5 Synonymous SNV V117V 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 11.34 171245 chr14 23240500 23240500 C T rs148652894 OXA1L Nonsynonymous SNV R376C 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 29 171246 chr3 124461054 124461054 G A rs759608798 UMPS Nonsynonymous SNV R405Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 171247 chr14 23894173 23894173 G C MYH7 Synonymous SNV P828P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 8.051 171248 chr3 125731480 125731480 C T rs372476214 SLC41A3 Synonymous SNV P325P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.551 171249 chr11 62850729 62850729 G T SLC22A24 Nonsynonymous SNV T424N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 171250 chr3 126180457 126180457 T C rs375282091 ZXDC Nonsynonymous SNV Q683R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 171251 chr3 127323896 127323896 C T MCM2 Synonymous SNV G190G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 171252 chr4 123542040 123542040 T A rs374097344 IL21 Nonsynonymous SNV I43L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.11 171253 chr16 57063966 57063966 C T rs758800259 NLRC5 Nonsynonymous SNV T796M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 171254 chr16 57197942 57197942 G A rs564050683 PSME3IP1 Nonsynonymous SNV P173L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 171255 chr16 25235743 25235743 G A rs201672056 AQP8 Nonsynonymous SNV E150K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 3.861 171256 chr11 64813335 64813335 G A NAALADL1 Synonymous SNV T665T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 171257 chr14 39583542 39583542 C T rs776830410 GEMIN2 Synonymous SNV T11T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.06 171258 chr8 17804851 17804851 A G rs199739700 PCM1 Nonsynonymous SNV I314V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 171259 chr14 45403616 45403616 T C rs35728857 KLHL28 Nonsynonymous SNV I363V 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 9.666 171260 chr8 21771104 21771104 G A rs117846789 DOK2 Synonymous SNV D3D 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 0.122 171261 chr7 42005463 42005463 T A rs150907867 GLI3 Nonsynonymous SNV T1070S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.3 171262 chr3 141499528 141499528 G C rs55824414 GRK7 Nonsynonymous SNV E309Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.003 171263 chr7 43917298 43917298 C T rs201056662 URGCP Synonymous SNV T579T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.329 171264 chr11 6566229 6566229 G A rs200542540 DNHD1 Nonsynonymous SNV A1354T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.35 171265 chr11 6568408 6568408 T A DNHD1 Nonsynonymous SNV I2080N 0.001 0 0 0 1 0 0 0 0 0 0 0 22 171266 chr16 69377399 69377399 T C rs375801873 TMED6 Nonsynonymous SNV I212V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 171267 chr7 45113121 45113121 G A rs2289366 CCM2 Nonsynonymous SNV S198N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27.7 171268 chr15 85341103 85341103 C T rs769889024 ZNF592 Synonymous SNV C801C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.379 171269 chr4 165962270 165962270 G A rs148636261 TRIM60 Nonsynonymous SNV R349Q 0.002 0.01 0.003 4 2 4 0.01 1 0 0 0 0 24.4 171270 chr4 169348466 169348466 T G DDX60L Nonsynonymous SNV K562T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 171271 chr7 4959894 4959894 G C rs757191727 MMD2 Synonymous SNV T66T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.231 171272 chr7 5427645 5427645 G C TNRC18 Nonsynonymous SNV P604A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 171273 chr8 30553986 30553986 T C rs767650258 GSR Nonsynonymous SNV I236V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 171274 chr15 89755113 89755113 A C rs142244640 RLBP1 Nonsynonymous SNV F182C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.6 171275 chr8 38250158 38250158 A G LETM2 Nonsynonymous SNV K2R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.099 171276 chr7 74015470 74015470 C T rs143878229 GTF2IRD1 Nonsynonymous SNV P942L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.48 171277 chr16 4934624 4934624 C T rs755210141 PPL Synonymous SNV S1344S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.511 171278 chr16 49412472 49412472 G A rs78114813 C16orf78 Nonsynonymous SNV G121D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 171279 chr8 48649924 48649924 C G rs749518684 CEBPD Nonsynonymous SNV Q253H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.15 171280 chr7 77256704 77256704 C G PTPN12 Nonsynonymous SNV P440A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.529 171281 chr7 77325918 77325918 G A rs201526103 RSBN1L Synonymous SNV K44K 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 8.981 171282 chr8 61765944 61765944 T G rs34527521 CHD7 Synonymous SNV G2220G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 1.568 171283 chr14 74416798 74416798 G A rs763054612 COQ6 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 171284 chr7 82784740 82784740 C T rs200099938 PCLO Nonsynonymous SNV G406E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.86 171285 chr11 73760413 73760413 G T rs111594125 C2CD3 Nonsynonymous SNV A1777E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.9 171286 chr11 73789332 73789332 C T rs75137555 C2CD3 Synonymous SNV R1477R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.35 171287 chr7 86781709 86781709 G A rs17515896 LOC101927420 0 0 0.027 0 0 0 0 8 0 0 0 0 9.897 171288 chr7 92028005 92028005 C G rs141698304 ANKIB1 Nonsynonymous SNV I1004M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.242 171289 chr11 76915260 76915260 C T rs548620787 MYO7A Synonymous SNV T1822T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.65 171290 chr7 97854376 97854376 G A rs370501239 TECPR1 Nonsynonymous SNV S851L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 171291 chr16 11861374 11861374 A G rs145528953 ZC3H7A Nonsynonymous SNV I474T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 17.31 171292 chr7 99459278 99459278 G A rs746185085 CYP3A43 Nonsynonymous SNV D247N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 171293 chr11 77301575 77301575 G A AQP11 Nonsynonymous SNV A180T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 171294 chr8 101018245 101018245 C T rs892094120 RGS22 Synonymous SNV E637E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.014 171295 chr14 88654361 88654361 T C KCNK10 Nonsynonymous SNV S316G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 171296 chr8 107782313 107782313 A G rs143020994 ABRA Nonsynonymous SNV W36R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 171297 chr16 1388540 1388540 G C BAIAP3 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 171298 chr16 1400112 1400112 G A rs142109530 TSR3 Nonsynonymous SNV A217V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.14 171299 chr8 116616408 116616408 A G rs34094363 TRPS1 Synonymous SNV Y587Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.014 171300 chr11 56949573 56949573 C T rs149345094 LRRC55 Nonsynonymous SNV A26V 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 6.911 171301 chr8 10920311 10920311 A C rs909667860 LOC101929269 0 0 0.003 0 0 0 0 1 0 0 0 0 3.04 171302 chr8 11142529 11142529 T C rs61752023 MTMR9 Synonymous SNV N44N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.958 171303 chr8 123966237 123966237 C T rs371036864 ZHX2 Synonymous SNV C829C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.476 171304 chr11 58035115 58035115 G T rs144359620 OR10W1 Synonymous SNV I72I 0.002 0.003 0.003 8 2 1 0.021 1 0 0 0 0 8.56 171305 chr11 58126173 58126173 C A rs144426665 OR5B17 Nonsynonymous SNV V124L 0.002 0.003 0.003 8 2 1 0.021 1 0 0 0 0 25.5 171306 chr4 985060 985060 G A rs143284684 SLC26A1 Synonymous SNV A144A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.03 171307 chr16 72830432 72830440 GGGGGTGGA - rs765511311 ZFHX3 P1134_P1136del 0.004 0 0.003 4 5 0 0.01 1 0 0 0 0 171308 chr16 74946053 74946053 T C rs112443135 WDR59 Nonsynonymous SNV I478V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.505 171309 chr16 74949890 74949890 G C rs61734553 WDR59 Nonsynonymous SNV L368V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.789 171310 chr8 125565347 125565347 T G rs754922115 MTSS1 Synonymous SNV A653A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 171311 chr16 75563578 75563578 C G CHST5 Synonymous SNV A235A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.664 171312 chr8 142190886 142190886 G A rs199977412 DENND3 Synonymous SNV K959K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.969 171313 chr8 133854817 133854817 A G rs371027212 PHF20L1 Synonymous SNV Q789Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 171314 chr8 143560830 143560830 G A rs372598777 ADGRB1 Nonsynonymous SNV G570S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 171315 chr16 2140157 2140157 C T rs567844132 PKD1 Synonymous SNV L4160L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.525 171316 chr16 22163908 22163908 C G VWA3A Nonsynonymous SNV L1120V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.026 171317 chr4 5564770 5564770 C T rs774269538 EVC2 Synonymous SNV L1164L 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Likely benign 15.84 171318 chr16 84094385 84094385 T C MBTPS1 Nonsynonymous SNV Y869C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.9 171319 chr16 2487195 2487195 G A rs757857382 CCNF Nonsynonymous SNV A138T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.401 171320 chr11 608086 608086 G A PHRF1 Nonsynonymous SNV R877H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 171321 chr8 143746612 143746612 G T JRK Nonsynonymous SNV P289Q 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.97 171322 chr16 84224873 84224873 A G rs147982310 ADAD2 Nonsynonymous SNV S13G 0.003 0 0 3 4 0 0.008 0 0 0 0 0 0.001 171323 chr16 2815514 2815514 C T rs150939519 SRRM2 Nonsynonymous SNV P1662L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.603 171324 chr16 28898956 28898956 G A rs182391081 ATP2A1 Nonsynonymous SNV D156N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 171325 chr11 62299943 62299943 T A rs201303995 AHNAK Nonsynonymous SNV H649L 0 0.005 0 2 0 2 0.005 0 0 0 0 0 12.39 171326 chr16 30507589 30507589 G A rs751825408 ITGAL Nonsynonymous SNV G476R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 171327 chr12 111785678 111785678 G A rs201485891 CUX2 Nonsynonymous SNV G1275D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.074 171328 chr15 42984628 42984628 A T STARD9 Nonsynonymous SNV I3618F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 171329 chr16 3283740 3283740 C G ZNF200 Nonsynonymous SNV V6L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 171330 chr8 145641197 145641197 C T rs782531136 SLC39A4 Synonymous SNV K132K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.783 171331 chr11 64001633 64001633 G A rs61734554 DNAJC4 Nonsynonymous SNV V235M 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 0.045 171332 chr8 145512919 145512919 C T rs781851211 BOP1 Nonsynonymous SNV E56K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 171333 chr16 3614421 3614421 G A rs564484779 NLRC3 Synonymous SNV L173L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.627 171334 chr16 3647691 3647691 T C rs149126845 SLX4 Nonsynonymous SNV K458E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 171335 chr4 26721714 26721714 C T rs35621944 TBC1D19 Synonymous SNV L286L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 15.69 171336 chr16 396193 396193 G A rs147515329 AXIN1 Nonsynonymous SNV P278L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 171337 chr11 64428606 64428606 T C NRXN2 Nonsynonymous SNV I571V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 14.88 171338 chr9 286629 286629 G A DOCK8 Nonsynonymous SNV E41K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 171339 chr12 117977571 117977571 T G KSR2 Nonsynonymous SNV H547P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 171340 chr16 4475970 4475970 C T rs1039505948 DNAJA3 Nonsynonymous SNV P30S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 171341 chr8 17611615 17611615 C T rs948659765 MTUS1 Nonsynonymous SNV E568K 0 0 0.003 0 0 0 0 1 0 0 0 0 28 171342 chr9 5185426 5185426 G C rs997841969 INSL6 Synonymous SNV T59T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.238 171343 chr15 51350416 51350416 G A rs147144347 TNFAIP8L3 Nonsynonymous SNV R93W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 171344 chr15 52901641 52901641 A G FAM214A Synonymous SNV A497A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.333 171345 chr5 98204325 98204325 C T CHD1 Synonymous SNV K1374K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.32 171346 chr9 16204028 16204028 C T rs116233433 C9orf92 Nonsynonymous SNV R88K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 171347 chr9 16215810 16215810 G C rs60121421 C9orf92 Nonsynonymous SNV I50M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.015 171348 chr15 56471495 56471495 A G rs77824247 RFX7 Synonymous SNV T56T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.739 171349 chr8 22398278 22398278 C T rs28764007 PPP3CC Nonsynonymous SNV A491V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.463 171350 chr8 22442908 22442908 G A rs11989168 PDLIM2 Nonsynonymous SNV R179Q 0.008 0.003 0.007 1 9 1 0.003 2 0 0 0 0 5.377 171351 chr8 23003321 23003321 A G rs34866525 TNFRSF10D Nonsynonymous SNV V199A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 13.9 171352 chr8 23049208 23049208 C A rs144773234 TNFRSF10A X469L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.414 171353 chr16 56501139 56501139 A G rs751768960 OGFOD1 Synonymous SNV P239P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.61 171354 chr17 14110294 14110294 G T rs111541535 COX10 Nonsynonymous SNV V366L 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 Benign 10.27 171355 chr5 115238690 115238690 - C rs779073678 AP3S1 0 0.003 0 0 0 1 0 0 0 0 0 0 171356 chr5 115238691 115238691 - GGCTTAGCAGGAGCTCTAGCCCGTGCTGTATCAGCTGTA rs781607458 AP3S1 0 0.003 0 0 0 1 0 0 0 0 0 0 171357 chr9 33026560 33026560 T C rs376314977 DNAJA1 Synonymous SNV Y26Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.307 171358 chr17 16329576 16329576 A G TRPV2 Nonsynonymous SNV K363R 0.006 0.005 0 0 7 2 0 0 0 0 0 0 0.011 171359 chr9 33941694 33941694 A G UBAP2 Nonsynonymous SNV Y575H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 171360 chr17 36936780 36936780 G A rs138473921 PIP4K2B Synonymous SNV D144D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.73 171361 chr17 36958407 36958407 G T rs538560317 CWC25 Synonymous SNV R406R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.42 171362 chr9 34343373 34343373 C T rs928159684 NUDT2 Stop gain Q127X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 171363 chr15 65496611 65496611 C T rs201209186 CILP Nonsynonymous SNV R305K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 14.55 171364 chr15 65782597 65782597 G A rs149636718 DPP8 Synonymous SNV V252V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.69 171365 chr15 66180118 66180118 T G rs200883500 RAB11A Synonymous SNV P197P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.064 171366 chr12 124840066 124840066 C T rs375804883 NCOR2 Nonsynonymous SNV R1088H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 171367 chr17 18188582 18188582 A C rs34001746 TOP3A Nonsynonymous SNV L489R 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 Likely benign 29.9 171368 chr9 71152222 71152222 C T TMEM252 Nonsynonymous SNV V156M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.995 171369 chr8 2954503 2954503 C G CSMD1 Nonsynonymous SNV G2336R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 171370 chr8 30241147 30241147 G A rs115626200 RBPMS-AS1 0 0 0.031 0 0 0 0 9 0 0 0 0 5.366 171371 chr9 72758657 72758657 G T MAMDC2 Nonsynonymous SNV K442N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 171372 chr8 33361016 33361016 C T rs150984360 TTI2 Nonsynonymous SNV G366E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 171373 chr8 37697129 37697129 G A rs371352921 ADGRA2 Nonsynonymous SNV V834I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 171374 chr12 133202739 133202739 G A rs114778730 POLE Synonymous SNV R2165R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign/Likely benign 12.56 171375 chr4 85418920 85418920 C T rs141490572 NKX6-1 Synonymous SNV A154A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19 171376 chr9 84249121 84249121 C T rs61738504 TLE1 Synonymous SNV P166P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.64 171377 chr8 52321637 52321637 G A PXDNL Synonymous SNV H849H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.798 171378 chr16 72144914 72144914 C T rs141593731 DHX38 Synonymous SNV A1179A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.74 171379 chr16 722779 722779 A G RHOT2 Nonsynonymous SNV D443G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 171380 chr17 27239887 27239887 C T rs765594813 PHF12 Nonsynonymous SNV A568T 0.006 0.005 0 0 7 2 0 0 0 0 0 0 14.83 171381 chr9 94519645 94519645 G A rs145568368 ROR2 Synonymous SNV D124D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign/Likely benign 8.566 171382 chr8 61757487 61757487 G A CHD7 Nonsynonymous SNV V1639I 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 171383 chr9 95263305 95263305 G C ECM2 Nonsynonymous SNV N523K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 171384 chr11 75898255 75898255 C T rs770136447 WNT11 Nonsynonymous SNV D307N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 32 171385 chr12 2027545 2027545 C T CACNA2D4 Nonsynonymous SNV S32N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 171386 chr5 140347431 140347431 C T rs151021111 PCDHAC2 Synonymous SNV D360D 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 7.291 171387 chr17 28758818 28758818 T C CPD Synonymous SNV D435D 0.006 0.005 0 0 7 2 0 0 0 0 0 0 5.29 171388 chr17 42090413 42090413 G A rs201444936 TMEM101 Synonymous SNV T143T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 171389 chr12 21015747 21015747 T C rs753580891 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV L201P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 171390 chr17 42745519 42745519 G A rs140839045 MEIOC Nonsynonymous SNV R747H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 20.6 171391 chr12 250289 250289 G C LOC574538, IQSEC3 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 171392 chr17 43240166 43240166 G - rs745541774 HEXIM2 A25Pfs*43 0 0.003 0 0 0 1 0 0 0 0 0 0 171393 chr8 95416399 95416399 C T rs138076805 RAD54B Nonsynonymous SNV V100M 0 0 0.007 0 0 0 0 2 0 0 0 0 28.7 171394 chr16 81946226 81946226 C T rs117835631 PLCG2 Synonymous SNV R653R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.35 171395 chr5 146788296 146788296 C G rs913119486 DPYSL3 Nonsynonymous SNV E343Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 171396 chr4 113567902 113567902 A C rs768460258 MIR302CHG 0.002 0 0 0 2 0 0 0 0 0 0 0 1.844 171397 chr4 114275950 114275950 C T rs200765866 ANK2 Nonsynonymous SNV T2059M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 13.92 171398 chr8 99217391 99217391 T C rs35376347 NIPAL2 Nonsynonymous SNV I247V 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 12.69 171399 chr4 118005458 118005458 C T rs35809332 TRAM1L1 Synonymous SNV R364R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.51 171400 chr4 120481459 120481459 T C PDE5A Synonymous SNV T397T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.067 171401 chr9 101797638 101797638 G A rs780920548 COL15A1 Nonsynonymous SNV E743K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 171402 chr5 149225366 149225366 G A rs201010955 PPARGC1B Nonsynonymous SNV A915T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 171403 chr9 103070894 103070894 G A TEX10 Nonsynonymous SNV H788Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 171404 chr4 122593744 122593744 T C ANXA5 Nonsynonymous SNV D190G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 171405 chr4 124323155 124323155 G A rs148920529 SPRY1 Nonsynonymous SNV G137R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.83 171406 chr17 48638898 48638898 G A rs577987926 CACNA1G Synonymous SNV S26S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 171407 chr17 48746880 48746880 T G rs766257330 ABCC3 Nonsynonymous SNV I744M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 171408 chr17 5284728 5284728 G A rs368890873 RABEP1 Synonymous SNV Q772Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 10.4 171409 chr17 52990065 52990065 C T TOM1L1 Synonymous SNV F10F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.97 171410 chr17 54535305 54535305 C T rs145812649 ANKFN1 Nonsynonymous SNV R511W 0.003 0.005 0 0 3 2 0 0 0 0 0 0 32 171411 chr17 54588001 54588001 G A rs145174606 ANKFN1 Nonsynonymous SNV D870N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.8 171412 chr9 115759599 115759599 G A rs200334238 ZNF883 Nonsynonymous SNV T314M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.986 171413 chr9 123586930 123586930 A G rs374398274 PSMD5 Nonsynonymous SNV M240T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 171414 chr9 116930516 116930516 T C rs538713049 COL27A1 Synonymous SNV N227N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.885 171415 chr16 89620302 89620302 G A rs79756036 SPG7 Synonymous SNV A679A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.297 171416 chr9 117027709 117027709 C A rs7048607 COL27A1 Nonsynonymous SNV P1116Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 171417 chr9 117050790 117050790 G A rs1631319 COL27A1 Nonsynonymous SNV R1348Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.67 171418 chr9 117051202 117051202 G A rs1687409 COL27A1 Synonymous SNV E1369E 0.002 0 0.01 0 2 0 0 3 0 0 0 0 10.78 171419 chr9 117120333 117120333 G A rs61744863 AKNA Synonymous SNV G750G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.07 171420 chr9 117124123 117124123 G A rs147606451 AKNA Nonsynonymous SNV T543I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 171421 chr16 9010927 9010927 A G rs139232336 USP7 Synonymous SNV H253H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.025 171422 chr9 117836014 117836014 C T rs750469692 TNC Nonsynonymous SNV G1028R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 171423 chr16 16272741 16272741 C T rs72653790 ABCC6 Nonsynonymous SNV D777N 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 33 171424 chr12 52708559 52708559 G A rs11836080 KRT83 Synonymous SNV C446C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 1.328 171425 chr17 11593516 11593516 C T rs145085168 DNAH9 Synonymous SNV V1459V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.574 171426 chr9 127089708 127089708 C T rs145520134 NEK6 Synonymous SNV T220T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.66 171427 chr16 19073120 19073120 C A rs143244351 TMC7 Stop gain Y657X 0.008 0.005 0.003 1 9 2 0.003 1 0 0 0 0 37 171428 chr17 62082707 62082707 G A ICAM2 Nonsynonymous SNV H30Y 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 0.001 171429 chr16 19553240 19553242 AGA - CCP110 K696del 0 0.003 0 0 0 1 0 0 0 0 0 0 171430 chr16 19718353 19718353 T C rs371288093 KNOP1 Nonsynonymous SNV D396G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 29.7 171431 chr9 125873708 125873708 G A MIR600HG 0 0 0.003 0 0 0 0 1 0 0 0 0 0.559 171432 chr9 125873740 125873740 G A rs144022830 MIR600HG 0 0 0.01 0 0 0 0 3 0 0 0 0 9.503 171433 chr12 53454250 53454250 T C rs139814846 TNS2 Synonymous SNV S903S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.227 171434 chr9 131745224 131745224 C T rs151100462 NUP188 Synonymous SNV L571L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 171435 chr9 131830140 131830140 A G rs778800545 MIGA2 Nonsynonymous SNV E420G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.91 171436 chr12 117768300 117768300 G T NOS1 Nonsynonymous SNV T192N 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.014 171437 chr12 54379180 54379180 G A HOXC10 Nonsynonymous SNV G46D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 171438 chr9 132515172 132515172 C G rs200875051 PTGES Synonymous SNV R40R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.68 171439 chr6 83855292 83855292 G A rs367662678 DOP1A Nonsynonymous SNV R1855H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 171440 chr17 18882891 18882891 A G FAM83G Synonymous SNV D262D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.099 171441 chr17 71199773 71199773 G A rs147260793 COG1 Synonymous SNV P741P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.804 171442 chr5 180276491 180276491 A T rs952158029 ZFP62 Synonymous SNV T668T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.033 171443 chr16 2511047 2511047 C T rs200526529 TEDC2 Nonsynonymous SNV R143C 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 11.18 171444 chr9 132630520 132630520 G A rs199861973 USP20 Synonymous SNV T309T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 171445 chr9 134350838 134350838 C T rs373454097 PRRC2B Nonsynonymous SNV R1108C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 171446 chr6 656245 656245 G A HUS1B Nonsynonymous SNV R234W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 171447 chr12 122255469 122255469 C T rs760141946 SETD1B Synonymous SNV T1057T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.43 171448 chr12 57323219 57323219 G A rs749322568 SDR9C7 Nonsynonymous SNV P227S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 171449 chr9 135102299 135102299 C T rs139239505 NTNG2 Synonymous SNV C307C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.56 171450 chr9 134003084 134003084 C G rs117100888 NUP214 Synonymous SNV P73P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 171451 chr9 135418389 135418389 G A rs61308567 CFAP77 Synonymous SNV P229P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.063 171452 chr17 27420351 27420351 A C MYO18A Nonsynonymous SNV L1602R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 171453 chr9 138903396 138903396 C T rs371043563 NACC2 Nonsynonymous SNV R577Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.6 171454 chr17 28539813 28539813 G A rs55908624 SLC6A4 Synonymous SNV L383L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.95 171455 chr5 32069709 32069709 G A rs150284709 PDZD2 Nonsynonymous SNV R829H 0.004 0 0.007 5 5 0 0.013 2 0 0 0 0 28.9 171456 chr17 56386042 56386042 C T rs200562777 TSPOAP1 Nonsynonymous SNV A1471T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.74 171457 chr17 56679933 56679933 C T rs201444319 TEX14 Nonsynonymous SNV G458D 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 21.8 171458 chr12 71078522 71078522 C T rs192322137 PTPRR Nonsynonymous SNV D196N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 171459 chr17 58153580 58153580 C A rs138266004 HEATR6 Nonsynonymous SNV V80F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.2 171460 chr12 7289586 7289586 T C rs144317360 CLSTN3 Nonsynonymous SNV S364P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.691 171461 chr12 7310611 7310611 G A rs139917555 CLSTN3 Synonymous SNV S935S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 171462 chr9 140327705 140327705 C T rs777037361 NOXA1 Nonsynonymous SNV A244V 0 0 0 2 0 0 0.005 0 0 0 0 0 7.302 171463 chr9 140671147 140671147 C T rs7868455 EHMT1 Synonymous SNV N592N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 15.05 171464 chr9 140678733 140678733 G A rs73669168 LOC651337 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.571 171465 chr6 26598664 26598664 C T rs140562891 ABT1 Nonsynonymous SNV R204C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.8 171466 chr9 140328047 140328047 T A rs183058926 NOXA1 Nonsynonymous SNV L295H 0 0.003 0.01 0 0 1 0 3 0 0 0 0 6.988 171467 chr10 6019489 6019489 C T rs974763500 IL15RA Synonymous SNV P24P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.61 171468 chr17 77073929 77073929 C T rs552337232 ENGASE Synonymous SNV G133G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.58 171469 chr17 6703397 6703400 CCCA - rs780995424 TEKT1 D401Efs*27 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 171470 chr17 6703401 6703401 - GGGGAAGA rs752470824 TEKT1 Frameshift insertion D401Vfs*31 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 171471 chr9 2718875 2718875 T C KCNV2 Nonsynonymous SNV M379T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 171472 chr10 15290785 15290785 C T FAM171A1 Nonsynonymous SNV V203I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 171473 chr10 15296873 15296873 G A rs747672439 FAM171A1 Nonsynonymous SNV R142W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 171474 chr16 6367053 6367053 C T rs192543900 RBFOX1 Nonsynonymous SNV H21Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 171475 chr17 71282510 71282510 C G CDC42EP4 Nonsynonymous SNV G44R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 171476 chr17 39458784 39458784 T - KRTAP29-1 Q107Rfs*57 0.001 0 0 0 1 0 0 0 0 0 0 0 171477 chr17 39619230 39619230 T C rs760255317 KRT32 Nonsynonymous SNV M357V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.152 171478 chr6 43110003 43110003 C T rs45453593 PTK7 Synonymous SNV N541N 0.009 0.003 0.003 6 10 1 0.015 1 1 0 0 0 Benign 13.75 171479 chr9 79322965 79322965 T C PRUNE2 Nonsynonymous SNV N1409D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 171480 chr9 79325492 79325492 A C PRUNE2 Nonsynonymous SNV H566Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 171481 chr6 44198187 44198187 T C rs754453178 SLC29A1 Synonymous SNV F212F 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 4.096 171482 chr12 49729763 49729763 G A rs140307566 C1QL4 Synonymous SNV D166D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.668 171483 chr17 4047061 4047061 C T rs769621861 CYB5D2 Synonymous SNV C4C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 171484 chr17 41132131 41132131 C G PTGES3L, PTGES3L-AARSD1 Nonsynonymous SNV Q23H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 171485 chr18 13008521 13008521 A C rs771062368 CEP192 Synonymous SNV S119S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 171486 chr18 13049365 13049365 A G rs779107349 CEP192 Nonsynonymous SNV R859G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.648 171487 chr6 47749835 47749835 C T rs142641063 OPN5 Synonymous SNV D11D 0.002 0.008 0.007 3 2 3 0.008 2 0 0 0 0 10.44 171488 chr6 47779419 47779419 C T rs146199042 OPN5 Synonymous SNV T336T 0.002 0.008 0.007 3 2 3 0.008 2 0 0 0 0 16.07 171489 chr16 84215011 84215011 G A rs140327311 TAF1C Nonsynonymous SNV R57C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 34 171490 chr6 51613307 51613307 A C rs893497345 PKHD1 Nonsynonymous SNV V3036G 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Uncertain significance 23 171491 chrUn_gl000219 56498 56498 T G LOC105379477, LOC283788 0 0 0.109 0 0 0 0 32 0 0 13 0 171492 chr10 49791143 49791143 G A rs146683289 ARHGAP22 Nonsynonymous SNV P30L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.115 171493 chr16 84492886 84492886 G T rs373784599 ATP2C2 Nonsynonymous SNV A592S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.1 171494 chr16 845153 845153 C T rs540750304 CHTF18 Nonsynonymous SNV R658C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.1 171495 chr6 64422333 64422333 A G PHF3 Nonsynonymous SNV R1529G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.01 171496 chr18 30260447 30260447 G A rs773956260 KLHL14 Nonsynonymous SNV R452C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 171497 chr12 53008980 53008980 G C rs564200448 KRT73-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 1.519 171498 chr12 53012192 53012192 G A rs146689491 KRT73 Synonymous SNV L39L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.869 171499 chr6 70900031 70900031 T C COL19A1 Nonsynonymous SNV S1014P 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 22.5 171500 chr13 39261561 39261561 C T rs745648044 FREM2 Nonsynonymous SNV P27L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.806 171501 chr12 53227752 53227752 T - KRT79 Q98Rfs*27 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 171502 chr5 118487711 118487711 G C DMXL1 Nonsynonymous SNV R1561P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 33 171503 chrX 135630910 135630910 G A rs140464879 VGLL1 Nonsynonymous SNV R126Q 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.061 171504 chr12 53467135 53467135 C T rs148811436 SPRYD3 Nonsynonymous SNV V210I 0 0 0 2 0 0 0.005 0 0 0 0 0 13.45 171505 chrX 139793846 139793846 C T rs750088834 LINC00632 0 0 0.007 0 0 0 0 2 0 0 1 0 3.362 171506 chr13 41834965 41834965 A G MTRF1 Nonsynonymous SNV S27P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.698 171507 chr17 78061560 78061560 C T rs61749027 CCDC40 Synonymous SNV F868F 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign/Likely benign 12.27 171508 chr16 88873824 88873824 C G rs141663679 CDT1 Nonsynonymous SNV P471A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.566 171509 chr18 43490657 43490657 T C rs200456950 EPG5 Nonsynonymous SNV H1345R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 25.3 171510 chr16 88925960 88925960 G A rs3784874 TRAPPC2L Star tloss M1? 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 3.459 171511 chr13 46164816 46164816 A G rs369115067 ERICH6B Synonymous SNV Y218Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 171512 chr10 73491943 73491943 C T rs568924674 CDH23 Synonymous SNV N1305N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.53 171513 chr17 79093268 79093268 - GTGG rs757681156 AATK Frameshift insertion P1230Hfs*23 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 171514 chr17 79093270 79093270 - GT AATK Frameshift insertion A1229Tfs*99 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 171515 chr13 49281768 49281768 C T rs148425155 CYSLTR2 Nonsynonymous SNV T272M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 171516 chr5 135188391 135188391 G A rs772224772 SLC25A48 Nonsynonymous SNV R101H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.635 171517 chr17 5012896 5012896 C G rs141525328 ZNF232 Nonsynonymous SNV L97F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 171518 chr18 52928751 52928751 G A rs368270265 TCF4 Synonymous SNV S152S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.62 171519 chr6 97677150 97677150 G A rs776639786 MMS22L Synonymous SNV D270D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.035 171520 chr17 10248820 10248820 G A rs181683994 MYH13 Synonymous SNV I459I 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 13.25 171521 chr17 52991226 52991226 A G rs200659319 TOM1L1 Nonsynonymous SNV R87G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.188 171522 chrX 45051096 45051096 G T rs34834703 DIPK2B Nonsynonymous SNV A133E 0 0 0.014 0 0 0 0 4 0 0 1 0 Benign 23.2 171523 chrX 47272670 47272670 C T rs148106650 ZNF157 Nonsynonymous SNV R400C 0 0 0.007 0 0 0 0 2 0 0 1 0 31 171524 chr17 79862746 79862746 G A rs146242304 PCYT2 Nonsynonymous SNV A324V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.569 171525 chr12 57648835 57648835 G T R3HDM2 Nonsynonymous SNV D866E 0 0 0 2 0 0 0.005 0 0 0 0 0 11.49 171526 chr13 86369172 86369172 G C rs368750148 SLITRK6 Nonsynonymous SNV T491R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 171527 chrX 83480764 83480764 G A rs72632467 MIR548I4 0 0 0.031 0 0 0 0 9 0 0 2 0 3.637 171528 chr17 58137424 58137424 T C rs115073148 HEATR6 Nonsynonymous SNV I484V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 171529 chr10 91143974 91143974 A G rs201982654 IFIT1B Nonsynonymous SNV I302V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.003 171530 chr5 140740173 140740173 C G PCDHGB2 Synonymous SNV A157A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.331 171531 chr5 140755882 140755882 A C rs182104750 PCDHGA6 Nonsynonymous SNV E744D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 171532 chrX 99848929 99848931 AGA - rs775126660 TNMD K76del 0 0 0.007 0 0 0 0 2 0 0 1 0 171533 chr10 101293103 101293103 A T rs764267338 NKX2-3 Nonsynonymous SNV Y72F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 171534 chr14 101348421 101348421 C G RTL1 Nonsynonymous SNV C902S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 171535 chr17 17124709 17124709 G A rs756605126 FLCN Nonsynonymous SNV P338L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.329 171536 chr14 102793183 102793183 C T rs760612828 ZNF839 Nonsynonymous SNV R268C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.6 171537 chr18 12095528 12095528 G C rs779671539 ANKRD62 Synonymous SNV L142L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 0.306 171538 chr5 142526853 142526853 A G ARHGAP26 Nonsynonymous SNV N632S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.58 171539 chr18 6983105 6983105 G A rs142286229 LAMA1 Nonsynonymous SNV T1930M 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 9.451 171540 chr10 98170165 98170165 G - rs1053392124 TLL2 P372Hfs*20 0 0 0.003 1 0 0 0.003 1 0 0 0 0 171541 chr10 105799739 105799739 C G rs750876156 COL17A1 Nonsynonymous SNV G927A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 171542 chr10 98825828 98825828 G A rs375001100 SLIT1 Synonymous SNV N143N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.096 171543 chr10 105801272 105801272 G C rs755001651 COL17A1 Nonsynonymous SNV P859R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 171544 chr12 77203595 77203595 C T rs183589238 ZDHHC17 Synonymous SNV F157F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.89 171545 chr17 67146149 67146149 G A rs141260911 ABCA10 Nonsynonymous SNV R1485W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.95 171546 chr17 67148207 67148207 - A ABCA10 Frameshift insertion Q1460Tfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 171547 chr6 137524780 137524780 C T rs55666220 IFNGR1 Nonsynonymous SNV E197K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 171548 chr14 20528967 20528967 T C rs760541211 OR4L1 Nonsynonymous SNV I255T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 171549 chr17 7121574 7121574 G A DLG4 Nonsynonymous SNV L49F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 171550 chr14 20844340 20844340 G A rs149869458 TEP1 Nonsynonymous SNV R1950W 0.002 0 0 0 2 0 0 0 0 0 0 0 23 171551 chr10 103547142 103547142 G A rs778753328 OGA Synonymous SNV L812L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.409 171552 chr17 71419527 71419527 T C rs372571803 SDK2 Nonsynonymous SNV N632S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 171553 chr17 260354 260354 C T rs782086328 C17orf97 Nonsynonymous SNV T74I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.86 171554 chr14 21490582 21490582 C A rs138902025 NDRG2 Nonsynonymous SNV R10L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.5 171555 chr18 44181214 44181214 T C LOXHD1 Nonsynonymous SNV N367S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.18 171556 chr5 156592967 156592967 T C rs199957041 FAM71B Synonymous SNV T71T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.062 171557 chr5 156638330 156638330 T C rs763414415 ITK Synonymous SNV F92F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.061 171558 chr5 156887220 156887220 C A rs374248640 NIPAL4 Synonymous SNV G26G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 21.8 171559 chr5 157216574 157216574 G A rs762480925 CLINT1 Nonsynonymous SNV P461L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 171560 chr5 167675031 167675031 G A rs182480158 TENM2 Nonsynonymous SNV E2124K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 29.2 171561 chr17 3300867 3300867 C G rs144219652 OR1E1 Nonsynonymous SNV V280L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 171562 chr10 12767311 12767311 G A rs770578753 MIR548Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.784 171563 chr10 115612599 115612599 G T DCLRE1A Nonsynonymous SNV R115S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 171564 chr19 11687970 11687970 C T rs529545521 ACP5 Nonsynonymous SNV A55T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.9 171565 chr10 116307425 116307425 C T ABLIM1 Nonsynonymous SNV G202R 0 0 0 1 0 0 0.003 0 0 0 0 0 35 171566 chr10 134175053 134175053 A G rs78803570 LRRC27 Synonymous SNV K294K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.315 171567 chr14 24687359 24687359 G A rs370581449 NEDD8, NEDD8-MDP1 Synonymous SNV L43L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 171568 chr10 118708485 118708485 C T rs772929190 SHTN1 Synonymous SNV K126K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.19 171569 chr6 160543362 160543362 C T rs766605382 SLC22A1 Nonsynonymous SNV S132F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 171570 chr14 24885369 24885369 A G rs777963123 NYNRIN Nonsynonymous SNV M1472V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 171571 chr14 24897131 24897131 G C rs776665719 CBLN3 Nonsynonymous SNV T161S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 171572 chr10 135122925 135122925 A C rs147218077 ZNF511 Nonsynonymous SNV Q62P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 171573 chr10 125780753 125780753 - G CHST15 Frameshift insertion R456Pfs*50 0.002 0 0 1 2 0 0.003 0 0 0 0 0 171574 chr14 34269339 34269339 G A NPAS3 Nonsynonymous SNV G579D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 171575 chr10 128973561 128973561 T G rs759159621 INSYN2A Nonsynonymous SNV N367H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.6 171576 chr10 20106075 20106075 G C rs150292075 PLXDC2 Nonsynonymous SNV D23H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.8 171577 chr10 22606903 22606903 G A rs773794310 COMMD3, COMMD3-BMI1 Nonsynonymous SNV R77Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 171578 chr18 72913524 72913524 G A rs560457364 ZADH2 Synonymous SNV D204D 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 6.315 171579 chr14 45605424 45605424 G T rs1015238529 FANCM Nonsynonymous SNV A64S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 171580 chr13 21549354 21549354 G A rs145604868 LATS2 Synonymous SNV S974S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 4.315 171581 chr13 21563079 21563079 C A rs201011483 LATS2 Synonymous SNV P280P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.43 171582 chr10 29843745 29843745 T C SVIL Nonsynonymous SNV M43V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 171583 chr14 51225272 51225272 T C rs754588503 NIN Nonsynonymous SNV T826A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.78 171584 chr10 30605099 30605099 T C MTPAP Synonymous SNV T420T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.012 171585 chr10 135000100 135000100 C T rs140414841 KNDC1 Synonymous SNV S416S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.72 171586 chr10 135003265 135003265 A T KNDC1 Nonsynonymous SNV D508V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.78 171587 chr19 1000631 1000631 G A rs754448875 GRIN3B Synonymous SNV R65R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.937 171588 chr7 4169493 4169493 C T rs759537123 LOC105375131 0 0.003 0 0 0 1 0 0 0 0 0 0 5.568 171589 chr10 32560662 32560662 T C rs188353527 EPC1 Nonsynonymous SNV N730S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 171590 chr6 7229356 7229356 G A rs113114064 RREB1 Nonsynonymous SNV D342N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.494 171591 chr6 7230729 7230729 C T rs114103178 RREB1 Synonymous SNV F799F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.505 171592 chr11 212839 212839 C T rs76117329 RIC8A Nonsynonymous SNV P405S 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 8.631 171593 chr17 78450067 78450067 C T NPTX1 Synonymous SNV Q60Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.51 171594 chr7 6550584 6550584 G A rs61732374 GRID2IP Nonsynonymous SNV R504C 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Benign 26.6 171595 chr17 79080554 79080554 A G rs115733273 BAIAP2 Synonymous SNV Q449Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.494 171596 chr17 79094290 79094290 C T rs61743713 AATK Nonsynonymous SNV G1046D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 171597 chr17 79095085 79095085 G A rs61738824 AATK Nonsynonymous SNV P781L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 171598 chr13 32915133 32915133 C T BRCA2 Nonsynonymous SNV T2214I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 22.8 171599 chr17 79095707 79095707 G A rs61738829 AATK Nonsynonymous SNV H574Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 171600 chr17 79098544 79098544 G A rs73367955 AATK Synonymous SNV T212T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.989 171601 chr13 33628377 33628377 G A rs369430812 KL Nonsynonymous SNV M431I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.38 171602 chr17 39681230 39681230 C T rs763257037 KRT19 Synonymous SNV L175L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 171603 chr17 79181024 79181024 T C rs77733643 CEP131 Synonymous SNV T96T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.003 171604 chr17 79182797 79182797 T C rs114818475 CEP131 Nonsynonymous SNV Q68R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.005 171605 chr17 79193736 79193736 G A rs111841890 CEP131 Nonsynonymous SNV P41S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.615 171606 chr17 79202687 79202687 A C rs111875767 LOC105371925 0.001 0 0 0 1 0 0 0 0 0 0 0 0.617 171607 chr17 79202724 79202724 C T rs74674731 LOC105371925 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 171608 chr17 79202743 79202743 C T rs145674229 TEPSIN Synonymous SNV A521A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.83 171609 chr17 79202948 79202948 G T rs116064505 TEPSIN Nonsynonymous SNV T453K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.839 171610 chr17 79203114 79203114 G C rs74548896 TEPSIN Nonsynonymous SNV P398A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.382 171611 chr17 79210553 79210553 G A rs79845511 TEPSIN Synonymous SNV L88L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.85 171612 chr14 62193437 62193437 G A HIF1A Synonymous SNV K181K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 171613 chr17 39890645 39890645 - GGGCTCCTGCCT rs573284057 HAP1 A80_R81insQAGA 0 0.003 0 0 0 1 0 0 0 0 0 0 171614 chr17 79219621 79219621 G A rs61740864 SLC38A10 Nonsynonymous SNV P1032L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.201 171615 chr11 726978 726978 C G rs201776164 EPS8L2 Nonsynonymous SNV S715R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 171616 chr14 64619382 64619382 C T rs1045320614 SYNE2 Nonsynonymous SNV T5247I 0.003 0 0 0 3 0 0 0 0 0 0 0 3.03 171617 chr17 40461404 40461404 T C rs200822916 STAT5A Synonymous SNV N678N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.174 171618 chr17 42475095 42475095 C G GPATCH8 Synonymous SNV G1372G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.371 171619 chr19 1440018 1440018 C T rs765870837 RPS15 Synonymous SNV Y30Y 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 4.426 171620 chr19 2290977 2290977 G A rs188672021 LINGO3 Nonsynonymous SNV R267W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.5 171621 chr14 73712459 73712459 G T rs1003706088 LOC101928123 0.001 0 0 0 1 0 0 0 0 0 0 0 7.884 171622 chr17 8526561 8526561 C T MYH10 Nonsynonymous SNV A2T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 171623 chr13 72440440 72440440 A G rs764868401 DACH1 Synonymous SNV S154S 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.083 171624 chr14 77718221 77718221 C T rs368317526 TMEM63C Nonsynonymous SNV R710W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 171625 chr18 22804543 22804543 C T rs149562357 ZNF521 Synonymous SNV T893T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.397 171626 chr10 73269880 73269880 G C CDH23 Nonsynonymous SNV D63H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 171627 chr18 22930877 22930877 G A rs748486744 ZNF521 Nonsynonymous SNV L12F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 171628 chr18 24497039 24497039 C A rs149359030 CHST9 Nonsynonymous SNV E172D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.021 171629 chr14 101200576 101200576 T C rs146879746 DLK1 Synonymous SNV N165N 0 0 0 3 0 0 0.008 0 0 0 0 0 1.371 171630 chr14 81223256 81223256 G A rs373994294 CEP128 Nonsynonymous SNV R865C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 171631 chr14 81743626 81743626 A T rs376519843 STON2 Nonsynonymous SNV F677I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 171632 chr14 102822110 102822110 C T CINP Nonsynonymous SNV G101R 0 0 0 3 0 0 0.008 0 0 0 0 0 19.9 171633 chr11 1093448 1093448 C A MUC2 Nonsynonymous SNV T1756N 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 1.549 171634 chr14 89341385 89341385 C A rs773278542 TTC8 Nonsynonymous SNV Q257K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.14 171635 chr11 1248081 1248081 G A rs368203418 MUC5B Nonsynonymous SNV G146S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 171636 chr14 103932035 103932035 A G MARK3 Nonsynonymous SNV K228E 0 0 0 3 0 0 0.008 0 0 0 0 0 26 171637 chr14 91044536 91044536 G T rs140726085 TTC7B Nonsynonymous SNV L742I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.8 171638 chr18 31326213 31326213 T G rs374678174 ASXL3 Nonsynonymous SNV F2134C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 171639 chr14 92583958 92583958 C T rs751262570 NDUFB1 Synonymous SNV V8V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.55 171640 chr6 41001773 41001773 G A rs1000988142 UNC5CL Nonsynonymous SNV T178I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.46 171641 chr18 33734916 33734916 A G rs769243313 ELP2 Nonsynonymous SNV Q340R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 171642 chr19 18260231 18260231 C G MAST3 Nonsynonymous SNV P1209A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.096 171643 chr14 94417387 94417387 G A ASB2 Stop gain Q232X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 171644 chr6 42647554 42647554 A T rs760422381 UBR2 Nonsynonymous SNV N1568Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 171645 chr7 64452074 64452074 G T rs185422600 ERV3-1 Nonsynonymous SNV P444Q 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24.2 171646 chr11 2610046 2610046 G A rs145229963 KCNQ1 Nonsynonymous SNV R452Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.67 171647 chr18 47432867 47432867 A G MYO5B Nonsynonymous SNV L779P 0.001 0 0 0 1 0 0 0 0 0 0 0 28 171648 chr15 100252595 100252595 T C rs199613639 MEF2A Synonymous SNV V303V 0.008 0.003 0.007 5 9 1 0.013 2 0 0 0 0 0.044 171649 chr15 24923974 24923974 G A rs760143169 NPAP1 Nonsynonymous SNV G987E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.158 171650 chr17 648664 648664 G T rs191778127 GEMIN4 Nonsynonymous SNV H873Q 0.004 0.01 0.003 0 5 4 0 1 1 0 0 0 4.823 171651 chr19 38974087 38974087 G A rs780579604 RYR1 Nonsynonymous SNV R1622Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 28.4 171652 chr19 39913402 39913402 G A rs370673772 PLEKHG2 Nonsynonymous SNV G511R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.605 171653 chr6 53010418 53010418 C T rs35646561 GCM1 Nonsynonymous SNV D5N 0.003 0 0 0 3 0 0 0 0 0 0 0 16.01 171654 chr19 40097903 40097903 G A rs2233711 LGALS13 Nonsynonymous SNV R115Q 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 Likely benign 22.2 171655 chr15 34016300 34016300 G A rs41279210 RYR3 Nonsynonymous SNV V2279M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 28.5 171656 chr7 92761761 92761761 T C rs577459487 SAMD9L Nonsynonymous SNV Y1175C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.009 171657 chr17 673190 673190 T A rs11663 GLOD4 Synonymous SNV G194G 0.004 0.01 0.003 0 5 4 0 1 1 0 0 0 7.967 171658 chr14 23995127 23995127 G A ZFHX2 Nonsynonymous SNV P1342S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.62 171659 chr7 96635364 96635364 - CAGCAGCAGCAGCAGCAGCAGCAA DLX6 Q44_P45insQQQQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 171660 chr14 24586884 24586884 G A rs762726270 DCAF11 Nonsynonymous SNV R140Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.1 171661 chr19 41704438 41704438 C T rs61736648 CYP2S1 Nonsynonymous SNV L189F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 20.7 171662 chr14 24878921 24878921 A C rs145306004 NYNRIN Nonsynonymous SNV K641Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign 3.519 171663 chr17 71752525 71752525 G A rs139981135 LOC100134391 0 0.003 0 0 0 1 0 0 0 0 0 0 0.214 171664 chr19 41897751 41897751 C T rs201990827 EXOSC5 Nonsynonymous SNV G127S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 171665 chr17 72518919 72518919 G A CD300LB Synonymous SNV Y188Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 171666 chr11 1079695 1079695 C T rs114865045 MUC2 Synonymous SNV S304S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 171667 chr11 1084278 1084278 G A rs61732128 MUC2 Nonsynonymous SNV D804N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.858 171668 chr6 79665377 79665377 T C rs750044760 PHIP Nonsynonymous SNV I1269V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.1 171669 chr11 1093685 1093685 C G rs41469747 MUC2 Nonsynonymous SNV P1835R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 171670 chr11 6486906 6486906 C T rs760030045 TRIM3 Nonsynonymous SNV S7N 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 171671 chr11 1093845 1093845 G A rs753684218 MUC2 Synonymous SNV T1888T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.989 171672 chr11 6549817 6549817 G A rs551218756 DNHD1 Nonsynonymous SNV D635N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.99 171673 chr19 42880094 42880094 G A rs147133204 MEGF8 Nonsynonymous SNV V2502I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Likely benign 14.57 171674 chr17 72956202 72956202 G T rs139963690 HID1 Synonymous SNV V290V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.12 171675 chr6 82461811 82461811 G A rs775747943 TENT5A Synonymous SNV A16A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.1 171676 chr18 8314805 8314805 A G rs146533378 PTPRM Nonsynonymous SNV T944A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 171677 chr11 6579307 6579307 C T rs199752008 DNHD1 Stop gain R2928X 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 37 171678 chr19 44058913 44058913 C T rs572056306 XRCC1 Nonsynonymous SNV R100H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 171679 chr6 88221224 88221224 G T rs142736979 SLC35A1 Stop gain E273X 0.002 0 0 0 2 0 0 0 0 0 0 0 40 171680 chr11 6913660 6913660 C T rs759685545 OR2D2 Synonymous SNV E24E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 171681 chr15 43552711 43552711 A T rs554797534 TGM5 Nonsynonymous SNV I26N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 171682 chr11 117395707 117395707 C T rs142205484 DSCAML1 Synonymous SNV S250S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 171683 chr15 45399036 45399036 G A rs201221237 DUOX2 Nonsynonymous SNV P609S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 171684 chr11 117774795 117774795 C T rs200481694 TMPRSS13 Nonsynonymous SNV R433Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 171685 chr19 10506658 10506660 CTT - CDC37 K108del 0.001 0 0 0 1 0 0 0 0 0 0 0 171686 chr11 118926024 118926024 G C HYOU1 Nonsynonymous SNV R98G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 171687 chr19 1055347 1055347 A - rs751229228 ABCA7 Q1401Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 171688 chr14 60622764 60622764 T C rs374229554 DHRS7 Synonymous SNV S30S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.304 171689 chr11 12495474 12495474 C T rs758509655 PARVA Stop gain R81X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 171690 chr19 46275919 46275919 C T rs780659624 DMPK Nonsynonymous SNV V353M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.546 171691 chr7 107566745 107566745 G A rs190017087 LAMB1 Synonymous SNV S1649S 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Likely benign 15.36 171692 chr19 14088827 14088827 A G rs145134846 RFX1 Synonymous SNV D302D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.548 171693 chr14 65249130 65249130 C T rs746513424 SPTB Nonsynonymous SNV D1382N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26 171694 chr19 42796596 42796596 C T CIC Synonymous SNV A1051A 0.006 0 0 0 7 0 0 0 0 0 0 0 11.93 171695 chr6 129837334 129837334 G A rs398123391 LAMA2 0.003 0 0 0 3 0 0 0 0 0 0 0 Pathogenic 25 171696 chr6 129837375 129837375 C G LAMA2 Nonsynonymous SNV F3080L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 171697 chr19 1488217 1488217 C T rs754675272 PCSK4 Synonymous SNV T119T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 171698 chr11 1254448 1254448 C T rs147606040 MUC5B Synonymous SNV H757H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.472 171699 chr7 122635229 122635229 A G rs2233989 TAS2R16 Synonymous SNV L154L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.201 171700 chr7 122774582 122774582 G A rs140244991 SLC13A1 Nonsynonymous SNV R272C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 29 171701 chr7 123142735 123142735 T C rs73437462 IQUB Synonymous SNV V313V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 3.219 171702 chr7 127013812 127013812 A G rs76950899 ZNF800 Synonymous SNV Y526Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 171703 chr6 138539392 138539392 T C rs779230396 PBOV1 Synonymous SNV P47P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.15 171704 chr7 127344973 127344973 C T rs115701447 SND1 Synonymous SNV G307G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 19.55 171705 chr19 48848452 48848452 C T rs953802064 TMEM143 Nonsynonymous SNV A142T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 171706 chr11 1276690 1276690 G A rs370460796 MUC5B Nonsynonymous SNV R5323H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.55 171707 chr11 1278762 1278762 C T rs140203744 MUC5B Synonymous SNV P5424P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 171708 chr7 128412628 128412628 G A rs376418066 OPN1SW Nonsynonymous SNV S338F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 171709 chr11 128839629 128839629 G A rs143557335 ARHGAP32 Nonsynonymous SNV R1464C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 171710 chr19 44793164 44793164 G C rs138793739 ZNF235 Nonsynonymous SNV Q142E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.473 171711 chr7 129384022 129384022 T C rs544170514 NRF1 Nonsynonymous SNV M453T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.43 171712 chr19 49254476 49254476 T C FUT1 Synonymous SNV V21V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.036 171713 chr19 49378095 49378095 C T rs34457521 PPP1R15A Synonymous SNV L535L 0.005 0.005 0 0 6 2 0 0 1 0 0 0 5.311 171714 chr19 49472840 49472840 G A GYS1 Nonsynonymous SNV A576V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 171715 chr11 45832566 45832566 G A SLC35C1 Nonsynonymous SNV A259T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.042 171716 chr7 139164402 139164402 C T rs201866297 KLRG2 Nonsynonymous SNV A326T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 33 171717 chr7 139299202 139299202 T C rs558445929 HIPK2 Nonsynonymous SNV N607S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.674 171718 chr19 46198872 46198872 G C rs376175267 QPCTL Nonsynonymous SNV G177R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.931 171719 chr19 18453693 18453693 C G PGPEP1 Nonsynonymous SNV T20S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.33 171720 chr19 18507135 18507135 G A LRRC25 Synonymous SNV P213P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.634 171721 chr11 32955286 32955286 A G rs201803519 QSER1 Nonsynonymous SNV I828V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 171722 chr7 149520913 149520913 G A rs200553675 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.747 171723 chr11 373492 373492 G A rs115079388 B4GALNT4 Nonsynonymous SNV S227N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 171724 chr19 2434800 2434800 C G LMNB2 Nonsynonymous SNV G323R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 171725 chr11 373499 373499 G A rs73400533 B4GALNT4 Synonymous SNV Q229Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.781 171726 chr11 373759 373759 C T rs11825210 B4GALNT4 Synonymous SNV A238A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 171727 chr19 49517759 49517759 C T rs750661903 RUVBL2 Synonymous SNV Y306Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.98 171728 chr15 27128498 27128498 C T rs79274924 GABRA5 Synonymous SNV D97D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 12.85 171729 chr18 44015315 44015315 A G rs139779598 RNF165 Synonymous SNV Q147Q 0.009 0.003 0.014 4 11 1 0.01 4 0 0 0 0 8.187 171730 chr6 170871103 170871103 G A rs149441883 TBP Synonymous SNV Q73Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.475 171731 chr6 170873702 170873702 C T rs139969412 TBP Synonymous SNV N169N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.82 171732 chr15 91420189 91420189 G A rs201551785 FURIN Nonsynonymous SNV G146S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 171733 chr15 91423128 91423128 C T rs765557046 FURIN Synonymous SNV D430D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 171734 chr15 91448591 91448591 C A rs138296704 MAN2A2 Nonsynonymous SNV N81K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.105 171735 chr7 943795 943795 G A rs370835412 ADAP1 Nonsynonymous SNV R111C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 171736 chr18 53131313 53131313 C A TCF4 Synonymous SNV P25P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.17 171737 chr11 47306055 47306055 G A rs751993844 MADD Nonsynonymous SNV R699H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 171738 chr11 47358982 47358982 C T rs730880572 MYBPC3 Nonsynonymous SNV M854I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 171739 chr18 5489089 5489106 GCGCCCCCGCGCGCCCCT - rs755462998 EPB41L3 Q26_A31del 0 0.003 0 0 0 1 0 0 0 0 0 0 171740 chr18 60527691 60527691 A C rs190711929 PHLPP1 Synonymous SNV S641S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 2.06 171741 chr8 9413876 9413876 C G rs147674490 TNKS Nonsynonymous SNV P143A 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 16.19 171742 chr19 36594764 36594764 G A rs774129490 WDR62 Nonsynonymous SNV R1345H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 171743 chr18 61390485 61390485 C T SERPINB11 Nonsynonymous SNV T169M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 171744 chr8 10467652 10467652 - CAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC RP1L1 Frameshift insertion A1319Gfs*33 0 0.003 0 1 0 1 0.003 0 0 0 0 0 171745 chr18 67794783 67794783 C T rs117774280 RTTN Nonsynonymous SNV C201Y 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.85 171746 chr19 56029450 56029450 G - SSC5D M1269Ifs*35 0 0.005 0 1 0 2 0.003 0 0 0 0 0 171747 chr18 6966227 6966227 C T rs368041323 LAMA1 Synonymous SNV P2323P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 171748 chr11 502148 502148 G T rs148674970 RNH1 Synonymous SNV I5I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.44 171749 chr15 43347076 43347076 G C UBR1 Nonsynonymous SNV Q435E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.668 171750 chr18 72997831 72997831 A C rs761820099 TSHZ1 Nonsynonymous SNV T157P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 171751 chr18 74817167 74817167 C T MBP Synonymous SNV T17T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.51 171752 chr16 1825966 1825966 C T rs138348894 EME2 Synonymous SNV P316P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12 171753 chr15 44087733 44087733 C T rs751932662 SERINC4 Nonsynonymous SNV R155K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.194 171754 chr16 1838169 1838169 G A rs773854014 NUBP2 Nonsynonymous SNV R62Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 33 171755 chr19 39798543 39798543 C T rs747595370 LRFN1 Synonymous SNV S682S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.9 171756 chr19 39798753 39798753 C T rs61730568 LRFN1 Synonymous SNV E612E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.552 171757 chr16 19191767 19191767 A G SYT17 Synonymous SNV E75E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.417 171758 chr16 20043236 20043236 T C rs149441644 GPR139 Nonsynonymous SNV M295V 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 0.142 171759 chr19 40421306 40421306 T C rs150766794 FCGBP Nonsynonymous SNV Y872C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 171760 chr19 40541026 40541026 G A rs200580886 ZNF780B Synonymous SNV T580T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.08 171761 chr8 22059422 22059422 C T BMP1 Synonymous SNV N738N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.46 171762 chr19 53656992 53656992 G A rs760685691 ZNF347 Synonymous SNV L3L 0.005 0 0 0 6 0 0 0 0 0 0 0 0.779 171763 chr19 54659539 54659539 G A rs773775602 LENG1 Nonsynonymous SNV R239W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.8 171764 chr19 43920034 43920034 T C TEX101 Nonsynonymous SNV I6T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.26 171765 chr15 59808969 59808969 C T rs368760375 FAM81A Synonymous SNV H304H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.27 171766 chr19 44223458 44223458 G A rs777050741 IRGC Nonsynonymous SNV D250N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.38 171767 chr8 32613935 32613935 A T NRG1 Nonsynonymous SNV K119M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 171768 chr19 13325049 13325049 G C rs200226402 CACNA1A Nonsynonymous SNV Q1981E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 171769 chr8 41394776 41394776 C T rs750900577 GINS4 Synonymous SNV Y87Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.17 171770 chr16 3614889 3614889 G A rs565215801 NLRC3 Nonsynonymous SNV P50L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.081 171771 chr11 56468439 56468439 C T rs373029506 OR9G1, OR9G9 Synonymous SNV G192G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.511 171772 chr11 65414177 65414177 C T rs754584987 SIPA1 Nonsynonymous SNV P558S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 171773 chr11 57080938 57080938 C A rs145901431 TNKS1BP1 Synonymous SNV G408G 0.001 0.01 0.003 2 1 4 0.005 1 0 0 0 0 Benign 13.49 171774 chr19 45567746 45567751 TCCCGC - rs762497121 CLASRP S367_R368del 0.002 0 0 0 2 0 0 0 0 0 0 0 171775 chr19 45851361 45851361 C T rs143111353 KLC3 Nonsynonymous SNV S241L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 171776 chr19 45900147 45900147 G A PPP1R13L Nonsynonymous SNV T123I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 171777 chr16 50667666 50667666 C A NKD1 Nonsynonymous SNV H463N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 171778 chr15 75641383 75641383 - C rs752684013 NEIL1 Frameshift insertion I133Hfs*109 0 0 0 1 0 0 0.003 0 0 0 0 0 171779 chr19 16940649 16940649 C T rs747213827 SIN3B Synonymous SNV G56G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 16.4 171780 chr19 17001383 17001383 C T rs141455038 F2RL3 Nonsynonymous SNV A370V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 9.247 171781 chr11 59224923 59224923 C T rs144170711 OR4D6 Nonsynonymous SNV L164F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 171782 chr11 70332069 70332069 G A rs374110699 SHANK2 Synonymous SNV S855S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.319 171783 chr16 57799380 57799380 C T rs140283103 KIFC3 Synonymous SNV S399S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.147 171784 chr19 17945413 17945413 C T rs201531563 JAK3 Nonsynonymous SNV V773I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 3.078 171785 chr19 48845925 48845925 G C rs150767811 TMEM143 Synonymous SNV A179A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 171786 chr11 6129177 6129177 C T rs146287967 OR56B4 Nonsynonymous SNV H57Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.73 171787 chr11 61631199 61631199 G A FADS2 Synonymous SNV V344V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 171788 chr7 99569574 99569574 G A rs139821462 AZGP1 Synonymous SNV V44V 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 2.242 171789 chr11 61919391 61919391 G A rs3781968 INCENP Synonymous SNV P896P 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Benign 8.451 171790 chr11 619859 619859 C T rs572219976 CDHR5 Nonsynonymous SNV R334H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 171791 chr16 70602272 70602272 C A rs746383372 SF3B3 Synonymous SNV R1013R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 171792 chr8 124516984 124516984 G A rs751393330 FBXO32 Nonsynonymous SNV R135C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 171793 chr11 78399254 78399254 C T rs756075933 TENM4 Nonsynonymous SNV R1702H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 171794 chr19 50302117 50302117 C T rs377728559 AP2A1 Synonymous SNV A291A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 17.65 171795 chr8 124988215 124988215 G C rs370094800 FER1L6 Nonsynonymous SNV G254A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.4 171796 chr11 63884632 63884632 G A rs145399902 FLRT1 Nonsynonymous SNV R298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 171797 chr1 109566023 109566023 T G WDR47 Nonsynonymous SNV S38R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 171798 chr11 89896485 89896485 - GTCTG rs772627991 NAALAD2 Frameshift insertion I330Wfs*35 0 0 0 1 0 0 0.003 0 0 0 0 0 171799 chr15 90431765 90431765 C A AP3S2, ARPIN-AP3S2 Nonsynonymous SNV L87F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.2 171800 chr1 109838900 109838900 C T rs142341673 MYBPHL Nonsynonymous SNV G275S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 171801 chr19 884996 884996 C T MED16 Nonsynonymous SNV A298T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 171802 chr19 3006486 3006486 C A TLE2 Nonsynonymous SNV G356C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 171803 chr1 114357546 114357546 G C rs771974866 PTPN22 Nonsynonymous SNV P747R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.4 171804 chr1 114964232 114964232 G C rs55763520 TRIM33 Synonymous SNV P629P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 8.283 171805 chr16 12758907 12758907 T A CPPED1 Nonsynonymous SNV M119L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 19.65 171806 chr1 117699349 117699349 T C rs375076011 VTCN1 Nonsynonymous SNV R3G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 171807 chr8 144941879 144941879 G A rs150969952 EPPK1 Nonsynonymous SNV A1848V 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 20.9 171808 chr16 84600505 84600505 G A COTL1 Synonymous SNV I125I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.08 171809 chr8 144999446 144999446 G A rs2857824 PLEC Nonsynonymous SNV R1537C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 171810 chr16 8722822 8722822 C T rs115820817 METTL22 Synonymous SNV D123D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.49 171811 chr16 87637894 87637899 CTGCTG - JPH3 A156_A157del 0.003 0.005 0 0 4 2 0 0 0 0 0 0 171812 chr16 87637899 87637899 - CTGCTG JPH3 A157_V158insAA 0.002 0 0 0 2 0 0 0 0 0 0 0 171813 chr19 36233575 36233575 G A rs934694750 U2AF1L4 Nonsynonymous SNV S178F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.9 171814 chr1 150981140 150981140 C T rs774257210 PRUNE1 Nonsynonymous SNV A11V 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 171815 chr11 76873190 76873190 C T rs559209306 MYO7A Synonymous SNV F456F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.31 171816 chr19 38160569 38160569 A G rs773966666 ZNF781 Nonsynonymous SNV F161L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.008 171817 chr11 77812075 77812075 C T rs149692072 ALG8 Nonsynonymous SNV A506T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 171818 chr11 7817859 7817859 C G rs746891390 OR5P2 Nonsynonymous SNV A211P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 171819 chr19 38572280 38572280 C T rs148675237 SIPA1L3 Synonymous SNV V25V 0.006 0.01 0.007 0 7 4 0 2 0 0 0 0 Benign 6.212 171820 chr19 38948268 38948268 C G rs116591968 RYR1 Synonymous SNV T641T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 16.7 171821 chr11 82976956 82976956 T C rs984462812 CCDC90B Synonymous SNV L105L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.129 171822 chr19 38987117 38987117 G A rs78915828 RYR1 Synonymous SNV R2244R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 12.93 171823 chr11 85436360 85436360 A G SYTL2 Synonymous SNV P1347P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.437 171824 chr1 112106489 112106489 C A rs752898423 TMIGD3 Nonsynonymous SNV G29V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.8 171825 chr11 86119219 86119219 C T CCDC81 Synonymous SNV Y250Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.225 171826 chr11 862667 862667 G A rs114423748 TSPAN4 Nonsynonymous SNV G61S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 171827 chr19 39421355 39421355 G T rs765029955 SARS2 Nonsynonymous SNV R8S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.7 171828 chr16 27761521 27761521 A G KIAA0556 Synonymous SNV K1080K 0 0 0 2 0 0 0.005 0 0 0 0 0 7.754 171829 chr19 39521674 39521675 AG - rs544202207 FBXO27 Stop gain S189* 0.003 0.005 0 0 3 2 0 0 0 0 0 0 171830 chr9 19516315 19516315 C T rs374018366 SLC24A2 Nonsynonymous SNV V591I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.3 171831 chr19 3979363 3979363 C T rs146823249 EEF2 Synonymous SNV K559K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.22 171832 chr19 39804846 39804846 C T rs116805080 LRFN1 Synonymous SNV G377G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.822 171833 chr19 39914028 39914028 G A rs10413140 PLEKHG2 Synonymous SNV Q719Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 9.847 171834 chr19 39923985 39923985 G A rs2230765 RPS16 Synonymous SNV D123D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 1.046 171835 chr19 39993588 39993588 T C rs115194365 DLL3 Synonymous SNV P181P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 0.062 171836 chr9 27172614 27172614 G A TEK Nonsynonymous SNV R106K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.41 171837 chr11 92573802 92573802 C T rs772283681 FAT3 Synonymous SNV P3481P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 171838 chr16 29816210 29816210 C T KIF22 Synonymous SNV L517L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.85 171839 chr1 117122288 117122288 - TCC rs56982445 IGSF3 E1019_D1020insE 0.003 0.003 0 0 3 1 0 0 0 0 0 0 171840 chr9 34096750 34096750 G A rs147681004 DCAF12 Synonymous SNV Y275Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.492 171841 chr1 1563954 1563954 C T rs1022967758 MIB2 Nonsynonymous SNV P735L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.19 171842 chr19 57867442 57867442 G A rs532255589 ZNF304 Nonsynonymous SNV V69I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 171843 chr17 1792132 1792132 G A rs143105728 RPA1 Nonsynonymous SNV R500H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 171844 chr7 149497081 149497081 C T rs369672199 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 7.945 171845 chr12 2797817 2797817 G T CACNA1C Stop gain E2005X 0 0 0 1 0 0 0.003 0 0 0 0 0 45 171846 chr12 109306391 109306391 G A SVOP Nonsynonymous SNV R470W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 171847 chr19 6734038 6734038 T C rs200001382 GPR108 Nonsynonymous SNV K176R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 171848 chr12 11139431 11139431 - A rs748423926 TAS2R50 Frameshift insertion S10Ffs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 171849 chr12 6639115 6639115 T G rs61731147 NCAPD2 Synonymous SNV P1276P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 9.12 171850 chr1 158969913 158969913 G C rs185200589 PYDC5 Nonsynonymous SNV R64G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.008 171851 chr9 89561305 89561305 G A rs911193660 GAS1 Synonymous SNV C130C 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 10.04 171852 chr1 159043196 159043196 C T rs2276405 AIM2 Nonsynonymous SNV E32K 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 22.5 171853 chr19 7591392 7591392 G A rs139377969 MCOLN1 Nonsynonymous SNV R102Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 24.8 171854 chr12 116403962 116403962 G C MED13L Synonymous SNV A2104A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 171855 chr19 8429280 8429280 C A rs776996548 ANGPTL4 Synonymous SNV G25G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 171856 chr9 99180276 99180276 C T ZNF367 Synonymous SNV P13P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 171857 chr17 29483074 29483074 A G rs753189381 NF1 Nonsynonymous SNV N45S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 171858 chr12 117402583 117402583 G C rs141777878 FBXW8 Nonsynonymous SNV E187D 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 17.76 171859 chr1 153750790 153750790 G A rs376964990 SLC27A3 Nonsynonymous SNV G439R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23 171860 chr19 46308030 46308030 G A rs138038020 RSPH6A Nonsynonymous SNV T378M 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.617 171861 chr12 121987495 121987495 G A rs35367851 KDM2B Nonsynonymous SNV T118M 0 0 0.014 0 0 0 0 4 0 0 0 0 25.1 171862 chr12 122265658 122265658 C T rs754727911 SETD1B Synonymous SNV L1829L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.84 171863 chr1 168260648 168260648 A C TBX19 Nonsynonymous SNV N152H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 171864 chr12 122669293 122669293 C A LRRC43 Synonymous SNV S126S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 171865 chr19 47152896 47152896 C T rs550654047 DACT3 Nonsynonymous SNV A20T 0 0.005 0 0 0 2 0 0 0 0 0 0 19.29 171866 chr17 34191815 34191815 G A rs116191233 HEATR9 Stop gain R134X 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 24.9 171867 chr9 110068767 110068767 C T rs1805333 RAD23B Synonymous SNV T91T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 14.57 171868 chr12 123338723 123338723 A G rs141544467 HIP1R Synonymous SNV L237L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.718 171869 chr19 47768151 47768151 G C CCDC9 Nonsynonymous SNV W223S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 29.1 171870 chr12 16369907 16369907 A G rs147878134 SLC15A5 Nonsynonymous SNV M468T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.7 171871 chr12 18552760 18552760 C G rs189828472 PIK3C2G Nonsynonymous SNV A724G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.8 171872 chr8 17872133 17872133 T G rs147450536 PCM1 Nonsynonymous SNV N1812K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 16.21 171873 chr19 49003042 49003042 G A rs375441601 LMTK3 Synonymous SNV D457D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 8.353 171874 chr19 9083047 9083047 C T MUC16 Nonsynonymous SNV S2923N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.456 171875 chr1 179833942 179833942 T G TOR1AIP2 Nonsynonymous SNV N124H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 171876 chr8 23002136 23002136 G A rs146130660 TNFRSF10D Nonsynonymous SNV R261W 0.003 0 0 0 4 0 0 0 0 0 0 0 22.4 171877 chr9 123920284 123920284 T C rs200841631 CNTRL Nonsynonymous SNV I1002T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.935 171878 chr8 24256533 24256533 C T rs777165062 ADAMDEC1 Synonymous SNV H224H 0.003 0 0 0 4 0 0 0 0 0 0 0 15.23 171879 chr12 42716237 42716237 C T rs768979729 ZCRB1 Synonymous SNV K32K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.71 171880 chr1 109103124 109103124 A G rs201974354 FAM102B Nonsynonymous SNV N25S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 171881 chr19 50758478 50758478 A G MYH14 Synonymous SNV E649E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.123 171882 chr12 27521246 27521246 G A rs756988598 ARNTL2 Nonsynonymous SNV R28H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.774 171883 chr9 129595792 129595792 T C rs202118678 ZBTB43 Nonsynonymous SNV I335T 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 0.004 171884 chr19 50979486 50979486 G C rs148246051 FAM71E1 Nonsynonymous SNV R54G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.27 171885 chr12 50347952 50347952 G A rs772192893 AQP2 Synonymous SNV T125T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 171886 chr8 38250078 38250078 C T rs538687874 LETM2 Synonymous SNV V22V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.47 171887 chr1 193045734 193045734 C A rs191227109 RO60 Nonsynonymous SNV S27Y 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.6 171888 chr9 130887643 130887643 G C PTGES2 Nonsynonymous SNV F119L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 27 171889 chr17 39913771 39913771 C T rs143043662 JUP Nonsynonymous SNV V648I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 171890 chr8 42186693 42186693 C T rs200992978 IKBKB Synonymous SNV A720A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.48 171891 chr19 51841289 51841289 G A rs865996246 VSIG10L Nonsynonymous SNV R635W 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 29.9 171892 chr9 131486325 131486325 C G rs143212938 ZDHHC12 Synonymous SNV G16G 0.006 0.005 0.01 2 7 2 0.005 3 0 0 0 0 15.99 171893 chr1 196967403 196967403 C T rs556270179 CFHR5 Synonymous SNV N372N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.933 171894 chr12 46121219 46121219 C G rs747564160 LINC00938 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 171895 chr17 40257876 40257876 G A rs200815865 DHX58 Nonsynonymous SNV R377C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 34 171896 chr8 56699123 56699123 A C rs143280848 TGS1 Synonymous SNV A129A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.062 171897 chr17 40734107 40734107 G A rs146279736 RETREG3 Synonymous SNV D375D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.882 171898 chr1 114483158 114483158 C G rs149987929 HIPK1 Synonymous SNV A51A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.103 171899 chr8 61693890 61693890 A G CHD7 Nonsynonymous SNV K666R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 171900 chr8 65527730 65527730 C T rs748070308 CYP7B1 Nonsynonymous SNV A304T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.32 171901 chr17 40947694 40947694 C T rs56099549 WNK4 Nonsynonymous SNV P689L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.5 171902 chr19 52196810 52196810 C T SPACA6 Nonsynonymous SNV P11S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.746 171903 chr17 40970264 40970264 C T rs138937709 BECN1 Nonsynonymous SNV E144K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 171904 chr1 201020165 201020165 T A rs145910245 CACNA1S Nonsynonymous SNV T1354S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.65 171905 chr8 70591784 70591784 C T rs149130588 SLCO5A1 Nonsynonymous SNV R563Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 171906 chr19 52375920 52375920 T C rs201024829 ZNF577 Synonymous SNV E441E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.002 171907 chr8 71041146 71041146 C T rs115177449 NCOA2 Nonsynonymous SNV V1063I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 20.8 171908 chr1 117564282 117564282 G A rs776597584 CD101 Nonsynonymous SNV R702Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 2.138 171909 chr17 41856179 41856179 G A rs748026915 DUSP3 Synonymous SNV Y38Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.98 171910 chr17 42030519 42030519 T C rs930435730 PYY Nonsynonymous SNV K76R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.545 171911 chr1 17281301 17281301 G A rs146830223 CROCC Nonsynonymous SNV A1132T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 16.08 171912 chr8 82633486 82633486 G C ZFAND1 Nonsynonymous SNV Q11E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.65 171913 chr8 86389383 86389383 G A rs756527443 CA2 Nonsynonymous SNV R80H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.81 171914 chr8 87414408 87414408 G A rs768629119 WWP1 Nonsynonymous SNV A234T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 171915 chr17 42854580 42854580 G A rs147273221 ADAM11 Synonymous SNV T376T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 171916 chr12 53671355 53671355 A G rs775785772 ESPL1 Synonymous SNV L729L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.601 171917 chr9 135553973 135553973 C T rs138645157 GTF3C4 Nonsynonymous SNV H323Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 171918 chr1 119936418 119936418 G A rs150665606 HAO2 Synonymous SNV S337S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.582 171919 chr12 51696892 51696892 T C BIN2 Nonsynonymous SNV N40D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.35 171920 chr1 12318107 12318107 A G rs928770348 VPS13D Nonsynonymous SNV T353A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 171921 chr12 55356512 55356512 A G TESPA1 Synonymous SNV C181C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.284 171922 chr8 95952338 95952338 A G rs11991800 TP53INP1 Nonsynonymous SNV C75R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.17 171923 chr12 52646139 52646139 G A rs146544749 KRT87P 0 0 0.031 0 0 0 0 9 0 0 0 0 17.08 171924 chr1 178822068 178822068 G A rs146890252 ANGPTL1 Synonymous SNV D346D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.486 171925 chr17 4576234 4576234 A G rs375701025 PELP1 Synonymous SNV P684P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 171926 chr12 56557536 56557536 G C SMARCC2 Synonymous SNV P1194P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.795 171927 chr8 113308072 113308072 T A rs61754529 CSMD3 Synonymous SNV P2668P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.131 171928 chr12 58221339 58221339 T C rs200585191 CTDSP2 Nonsynonymous SNV Y83C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.05 171929 chr8 121237345 121237345 A G rs61753753 COL14A1 Nonsynonymous SNV T586A 0.006 0.003 0.003 4 7 1 0.01 1 0 0 0 0 18.03 171930 chr12 71002940 71002940 G A rs112581017 PTPRB Synonymous SNV Y78Y 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 10.4 171931 chr12 57589997 57589997 G A rs747445360 LRP1 Synonymous SNV E2943E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 171932 chr12 57619322 57619322 C T rs746297210 NXPH4 Nonsynonymous SNV T240I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 171933 chr17 56271357 56271357 T C rs971831852 EPX Synonymous SNV A166A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.361 171934 chr17 56356502 56356502 A G rs56378716 MPO Nonsynonymous SNV M251T 0.003 0.003 0.02 3 4 1 0.008 6 0 0 0 0 Uncertain significance 23.3 171935 chr17 1438578 1438578 A G rs376136129 PITPNA Synonymous SNV L181L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.865 171936 chr12 82752133 82752133 G C rs139862859 CCDC59 Nonsynonymous SNV A8G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.018 171937 chr1 216373159 216373159 G A rs146462407 USH2A Synonymous SNV I1207I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.89 171938 chr12 85674229 85674229 C T rs145944049 ALX1 Nonsynonymous SNV R64C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 171939 chr12 6635361 6635361 A C rs774381395 NCAPD2 Synonymous SNV R826R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.81 171940 chr17 61895645 61895645 C T rs773939808 DDX42 Nonsynonymous SNV P902S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.409 171941 chr1 201180140 201180140 C - rs747854294 IGFN1 A2040Vfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 171942 chr1 201180142 201180248 CCTGAGAGAATAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGTAGAAATGGGGTCAGTGAATGAGGCAGGTTATAGGAAGGATTTAGGGGC - IGFN1 P2041Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 171943 chr17 17722536 17722536 C T rs115341498 SREBF1 Nonsynonymous SNV G263S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.4 171944 chr8 143831773 143831773 G A rs138954713 LYPD2 Synonymous SNV D102D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.325 171945 chr1 22202155 22202155 C T rs78889849 HSPG2 Nonsynonymous SNV R1091Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 13.93 171946 chr1 22211941 22211941 G T rs75467696 HSPG2 Nonsynonymous SNV T361N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 18.9 171947 chr12 97338420 97338420 G A rs147455751 NEDD1 Nonsynonymous SNV A412T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 171948 chr1 157768030 157768030 G C rs149687405 FCRL1 Nonsynonymous SNV S306R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 171949 chr1 158325768 158325768 C T rs189080963 CD1E Synonymous SNV V70V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.68 171950 chr1 225380500 225380500 A T DNAH14 Nonsynonymous SNV T1925S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.44 171951 chr17 65907467 65907467 C T rs779204945 BPTF Nonsynonymous SNV T1156I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.589 171952 chr8 144874567 144874567 G A rs782701656 SCRIB Nonsynonymous SNV P1446L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 171953 chr1 204429679 204429679 G A rs142843233 PIK3C2B Nonsynonymous SNV T474M 0.003 0.008 0 0 3 3 0 0 0 0 0 0 29.9 171954 chr12 108641993 108641993 G A rs745340778 WSCD2 Nonsynonymous SNV R524Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 171955 chr10 21108396 21108396 G A rs770107953 NEBL Nonsynonymous SNV P671L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 171956 chr1 206661263 206661263 T G rs41299037 IKBKE Nonsynonymous SNV I458M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 171957 chr1 160109466 160109466 G A rs200127278 ATP1A2 Synonymous SNV T959T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.98 171958 chr12 110293531 110293531 C T rs761329115 GLTP Nonsynonymous SNV G114R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 171959 chr19 6416627 6416627 C T rs149214856 KHSRP Synonymous SNV T454T 0.003 0.013 0.017 0 3 5 0 5 0 0 1 0 17.93 171960 chr19 6468082 6468082 C T rs770244356 DENND1C Synonymous SNV P569P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 171961 chr1 207196628 207196628 G C rs781000116 C1orf116 Nonsynonymous SNV P161A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 171962 chr17 7127545 7127545 A C rs781153542 ACADVL Synonymous SNV A483A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.135 171963 chr12 111020743 111020743 C T PPTC7 Nonsynonymous SNV G32S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.17 171964 chr8 145659016 145659016 T C rs147517862 TONSL Nonsynonymous SNV S1172G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.015 171965 chr12 9217172 9217172 G A rs778685737 LINC00612 0 0 0.003 0 0 0 0 1 0 0 0 0 7.052 171966 chr8 145689664 145689664 C A rs146960526 CYHR1 Nonsynonymous SNV G142V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 171967 chr8 145740622 145740622 C T rs34948955 RECQL4 Synonymous SNV T465T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 9.874 171968 chr1 232600935 232600935 G T SIPA1L2 Nonsynonymous SNV T824N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.6 171969 chr17 72920786 72920786 C G OTOP2 Nonsynonymous SNV P20R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 171970 chr1 232942083 232942083 C A MAP10 Synonymous SNV T438T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.53 171971 chr10 35299355 35299355 T G rs368917888 CUL2 Synonymous SNV R645R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.607 171972 chr10 38241382 38241382 C T rs140529378 ZNF25 Synonymous SNV G348G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.98 171973 chr19 8152724 8152724 C T rs138457751 FBN3 Nonsynonymous SNV G2202R 0.006 0.016 0 1 7 6 0.003 0 0 0 0 0 Uncertain significance 13.93 171974 chr1 235840854 235840854 T C LYST Synonymous SNV L3622L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 4.51 171975 chr17 32583837 32583837 G A rs368861512 CCL2 Synonymous SNV P97P 0 0 0 2 0 0 0.005 0 0 0 0 0 7.374 171976 chr1 169762241 169762241 C A METTL18 Nonsynonymous SNV G199V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 171977 chr1 217604522 217604522 C T rs150141050 GPATCH2 Nonsynonymous SNV A518T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.01 171978 chr17 33586111 33586111 G A rs141928271 SLFN5 Synonymous SNV L134L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 4.2 171979 chr13 110436296 110436296 - CGGCGG rs34412495 IRS2 A701_V702insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 171980 chr1 170961378 170961378 T C MROH9 Synonymous SNV L368L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.921 171981 chr12 123061504 123061504 A G KNTC1 Synonymous SNV V883V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.883 171982 chr1 241755414 241755414 G A rs55662927 KMO Nonsynonymous SNV V474M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.039 171983 chr13 114453590 114453590 C T rs538983054 LINC00552 0 0 0.024 0 0 0 0 7 0 0 0 0 8.377 171984 chr13 115090339 115090339 C T rs782365949 CHAMP1 Nonsynonymous SNV P341L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 171985 chr12 125397358 125397358 T C rs753388885 UBC Synonymous SNV E320E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 171986 chr13 23915239 23915239 T C rs144362131 SACS Nonsynonymous SNV I779V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 4.399 171987 chr13 25373669 25373669 A G rs1044070304 RNF17 Synonymous SNV L512L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.87 171988 chr1 177199126 177199126 G A rs944890706 BRINP2 Synonymous SNV A38A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.26 171989 chr1 17764987 17764987 C T rs367812955 RCC2 Synonymous SNV A8A 0.009 0.01 0 2 11 4 0.005 0 0 0 0 0 12.73 171990 chr17 38279335 38279335 G A MSL1 Nonsynonymous SNV G157D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.64 171991 chr1 178834541 178834541 C T rs979372722 ANGPTL1 Nonsynonymous SNV R124H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 171992 chr17 38953480 38953480 G A rs533861847 KRT28 Synonymous SNV N248N 0 0 0 2 0 0 0.005 0 0 0 0 0 11.49 171993 chr17 7734053 7734053 C T rs200556134 DNAH2 Synonymous SNV A4041A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 171994 chr1 180034271 180034271 A G rs146584966 CEP350 Nonsynonymous SNV T1811A 0.005 0.005 0 4 6 2 0.01 0 0 0 0 0 8.304 171995 chr13 39587325 39587325 A G rs140533339 PROSER1 Synonymous SNV T666T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.001 171996 chr13 41814549 41814549 C T rs751297093 MTRF1 Nonsynonymous SNV A240T 0 0 0.007 0 0 0 0 2 0 0 0 0 32 171997 chr10 72015466 72015466 C T NPFFR1 Synonymous SNV L180L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.72 171998 chr17 39346501 39346501 G A rs533254504 KRTAP9-1 Synonymous SNV P121P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 6.056 171999 chr1 183532590 183532590 C T rs147908264 NCF2 Nonsynonymous SNV R305Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.42 172000 chr17 39394539 39394539 C T rs201444580 KRTAP9-8 Nonsynonymous SNV T79I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.87 172001 chr9 85597595 85597595 G C rs76042106 RASEF Synonymous SNV G740G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.047 172002 chr13 48985925 48985925 G C rs61741709 LPAR6 Nonsynonymous SNV T212S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 172003 chr13 52598664 52598664 C T rs769569896 ALG11 Synonymous SNV L266L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.873 172004 chr1 100182997 100182997 G C rs149801998 FRRS1 Nonsynonymous SNV A402G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 14.51 172005 chr13 36141074 36141074 G A NBEA Nonsynonymous SNV V112M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 172006 chr1 100623863 100623863 T C rs150884667 LRRC39 Nonsynonymous SNV K146R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.6 172007 chr10 82269180 82269180 C T rs199964121 TSPAN14 Nonsynonymous SNV R135W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 172008 chr1 1007730 1007730 C T rs188944294 RNF223 Nonsynonymous SNV V73I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 172009 chr17 80008546 80008546 G A rs116095529 RFNG Synonymous SNV S137S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.502 172010 chr10 88441336 88441336 C T rs45516997 LDB3 Synonymous SNV L155L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 8.91 172011 chr17 40825761 40825761 A T rs751641966 PLEKHH3 Nonsynonymous SNV D130E 0 0 0 2 0 0 0.005 0 0 0 0 0 15.36 172012 chr1 27676503 27676503 C A rs774405748 SYTL1 Nonsynonymous SNV A263E 0 0.003 0 0 0 1 0 0 0 0 0 0 22 172013 chr13 41373343 41373343 C T SLC25A15 Nonsynonymous SNV P69L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 172014 chr13 95953560 95953560 G C rs748197778 ABCC4 Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 172015 chr13 96285518 96285518 G A rs763110145 DZIP1 Nonsynonymous SNV R219C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 172016 chr13 46135597 46135597 C A rs777770574 ERICH6B Nonsynonymous SNV K438N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.2 172017 chr1 241842832 241842832 C T rs41304038 WDR64 Stop gain R187X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 38 172018 chr13 46563129 46563129 G A rs138601991 ZC3H13 Nonsynonymous SNV R350C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 172019 chr1 201196140 201196140 C A rs777872846 IGFN1 Synonymous SNV G3639G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.08 172020 chr14 102023872 102023872 T C rs368533887 DIO3OS 0 0 0.027 0 0 0 0 8 0 0 1 0 3.307 172021 chr10 95134707 95134707 G A rs150897152 MYOF Nonsynonymous SNV T692M 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 Likely benign 24.2 172022 chr10 96493075 96493075 C T rs764062484 CYP2C18 Synonymous SNV L332L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.064 172023 chr1 203015446 203015446 G A rs369736438 PPFIA4 Nonsynonymous SNV R359H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 172024 chr1 203681256 203681256 G A rs767252454 ATP2B4 Nonsynonymous SNV E734K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 172025 chr10 99416671 99416671 C T rs118013296 PI4K2A Nonsynonymous SNV R288W 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 34 172026 chr1 3746445 3746445 G A rs187512647 CEP104 Synonymous SNV D651D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.552 172027 chr14 105859087 105859087 G A rs146590511 PACS2 Nonsynonymous SNV R706Q 0 0 0.01 0 0 0 0 3 0 0 0 0 25.7 172028 chr14 20389402 20389402 C T rs150296287 OR4K5 Nonsynonymous SNV L213F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.456 172029 chr18 21353694 21353694 C T rs564176676 LAMA3 Synonymous SNV V472V 0.003 0 0 0 3 0 0 0 0 0 0 0 4.586 172030 chr17 48183315 48183315 C T rs761025550 PDK2 Synonymous SNV G69G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 18.03 172031 chr17 48183467 48183467 G T PDK2 Nonsynonymous SNV G184V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 2.06 172032 chr14 20612219 20612219 G A rs371978000 OR4N5 Nonsynonymous SNV A109T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 172033 chr13 99098432 99098432 C T rs145031094 FARP1 Synonymous SNV F959F 0 0 0 2 0 0 0.005 0 0 0 0 0 17.73 172034 chr1 20645181 20645181 G C VWA5B1 Nonsynonymous SNV D270H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 172035 chr1 11718836 11718836 G A rs202223354 FBXO44 Nonsynonymous SNV R136H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 172036 chr14 21485832 21485832 G C NDRG2 Nonsynonymous SNV R343G 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 172037 chr13 103400072 103400072 G C rs963082233 CCDC168 Nonsynonymous SNV P992R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.204 172038 chr17 51901046 51901046 G A rs372615987 KIF2B Nonsynonymous SNV V218M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 26.9 172039 chr1 21221864 21221864 G C EIF4G3 Nonsynonymous SNV D654E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 172040 chr1 120165852 120165852 G A ZNF697 Stop gain Q372X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 36 172041 chr14 23517555 23517555 G A CDH24 Synonymous SNV F660F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 172042 chr13 113770040 113770040 C T F7 Nonsynonymous SNV T82M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.386 172043 chr1 215368407 215368407 G A rs763061596 KCNK2 Nonsynonymous SNV R308Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 34 172044 chr18 3499262 3499262 G A DLGAP1 Nonsynonymous SNV A650V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 172045 chr18 3874692 3874692 T C rs999151165 DLGAP1 Synonymous SNV T5T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.17 172046 chr13 114624067 114624067 T C rs79295813 LINC00452 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.842 172047 chr13 114748824 114748824 G A rs35250168 RASA3 Synonymous SNV P781P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 8.756 172048 chr13 114773059 114773059 C G rs146882654 RASA3 Synonymous SNV S532S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 12.91 172049 chr14 24517936 24517936 G T rs201609317 DHRS4L1 Nonsynonymous SNV K66N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.78 172050 chr14 24517940 24517940 T C rs200157408 DHRS4L1 Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.439 172051 chr14 24528113 24528113 C T CARMIL3 Nonsynonymous SNV L497F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 172052 chr17 56389919 56389919 C T rs144600978 TSPOAP1 Nonsynonymous SNV G695R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 172053 chr14 24656618 24656618 G A rs375039164 IPO4 Synonymous SNV S192S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.713 172054 chr1 145562472 145562472 C T ANKRD35 Synonymous SNV S630S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.341 172055 chr10 121587276 121587276 G A rs554513123 INPP5F Nonsynonymous SNV R518Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 172056 chr10 124895746 124895746 - GCTGCC HMX3 A73_K74insAA 0 0.003 0 0 0 1 0 0 0 0 0 0 172057 chr1 151288780 151288780 T G rs141886432 PI4KB Nonsynonymous SNV K60Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 172058 chr18 57026456 57026456 C A rs776989539 LMAN1 Nonsynonymous SNV R7S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 172059 chr1 60280843 60280843 C T rs34045351 HOOK1 Synonymous SNV L18L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 16.17 172060 chr1 228285404 228285404 C T rs373715936 ARF1 Synonymous SNV F124F 0.003 0 0 0 3 0 0 0 0 0 0 0 8.32 172061 chr14 23596409 23596409 C T rs762536675 SLC7A8 Nonsynonymous SNV V305M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.726 172062 chr14 55451527 55451527 C G rs140770200 WDHD1 Nonsynonymous SNV G484A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 172063 chr14 55642077 55642077 C T rs369345355 DLGAP5 Nonsynonymous SNV V430M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 172064 chr1 228467643 228467643 G A rs371605678 OBSCN Synonymous SNV T2506T 0.003 0 0 0 4 0 0 0 0 0 0 0 11.9 172065 chr1 36068872 36068872 G T rs150182974 PSMB2 Nonsynonymous SNV S84Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.8 172066 chr1 36439097 36439097 A T AGO3 Nonsynonymous SNV M215L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 18.59 172067 chr17 71223362 71223362 G A rs145613050 FAM104A Nonsynonymous SNV P88L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 21.5 172068 chr1 76226846 76226846 A G rs77931234 ACADM Nonsynonymous SNV K140E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 172069 chr18 8825409 8825409 G A rs114965084 MTCL1 Nonsynonymous SNV E1301K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 5.419 172070 chr14 36278033 36278033 G A rs201397207 RALGAPA1 Synonymous SNV S3S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 172071 chr14 38256812 38256812 T C TTC6 Nonsynonymous SNV F1152L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.497 172072 chr14 74422606 74422606 C T rs777243630 COQ6 Synonymous SNV L152L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 172073 chr19 10224852 10224852 G C P2RY11, PPAN-P2RY11 Nonsynonymous SNV C188S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.93 172074 chr1 43893062 43893062 G A SZT2 Nonsynonymous SNV G1125R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.182 172075 chr1 240497221 240497221 C T rs150801382 FMN2 Nonsynonymous SNV S847L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.9 172076 chr1 44057530 44057530 A C PTPRF Synonymous SNV R527R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.683 172077 chr14 52171526 52171526 A T rs199547318 FRMD6 Nonsynonymous SNV Q144L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.8 172078 chr1 16069664 16069664 T C rs61740067 TMEM82 Nonsynonymous SNV V104A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.1 172079 chr14 88452941 88452941 T C rs147313927 GALC Nonsynonymous SNV T89A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 172080 chr14 55903529 55903529 C T rs147025657 TBPL2 Nonsynonymous SNV E120K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.71 172081 chr1 247275295 247275295 G A C1orf229 Synonymous SNV L78L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.252 172082 chr1 247587696 247587696 G A rs199961191 NLRP3 Synonymous SNV P317P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 172083 chr14 90756831 90756831 A T rs755401760 NRDE2 Nonsynonymous SNV S655T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.547 172084 chr14 92920356 92920356 C T rs142850140 SLC24A4 Synonymous SNV T331T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 172085 chr17 76430206 76430206 G A rs375567410 DNAH17 Synonymous SNV F4043F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.16 172086 chr19 12155949 12155949 A G rs372874813 ZNF878 Synonymous SNV D89D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.472 172087 chr14 94750486 94750486 T C rs2232710 SERPINA10 Nonsynonymous SNV Q384R 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 15.64 172088 chr10 11994210 11994210 T C UPF2 Synonymous SNV T963T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.805 172089 chr19 12774537 12774537 G A rs117843968 MAN2B1 Nonsynonymous SNV P248L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 172090 chr19 12798983 12798983 G A rs572463685 GNG14 Nonsynonymous SNV G41R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.654 172091 chr17 76888375 76888375 T C rs59989120 CEP295NL Nonsynonymous SNV N71D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 172092 chr19 12911876 12911876 G A rs1006483936 PRDX2 Synonymous SNV Y37Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 172093 chr10 15177372 15177372 T A NMT2 Nonsynonymous SNV M98L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.09 172094 chr19 14070284 14070284 G A rs763384916 DCAF15 Synonymous SNV P404P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.754 172095 chr19 1455381 1455381 A G APC2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 172096 chr1 17350552 17350552 G A SDHB Synonymous SNV C186C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 12.47 172097 chr14 70238005 70238010 AGAAGC - rs775320407 SRSF5 R224_S225del 0 0 0 1 0 0 0.003 0 0 0 0 0 172098 chr1 64102040 64102040 A C PGM1 Nonsynonymous SNV T355P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 29.1 172099 chr11 1887935 1887935 G T rs539714151 LSP1 Nonsynonymous SNV E77D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.109 172100 chr14 74205508 74205508 G C rs368078040 ELMSAN1 Nonsynonymous SNV L402V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.108 172101 chr11 2434193 2434193 G A rs369879322 TRPM5 Nonsynonymous SNV R716C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.67 172102 chr14 74427901 74427901 T C rs767940412 COQ6 Nonsynonymous SNV F306S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.66 172103 chr14 75329856 75329856 T C rs201578215 PROX2 Nonsynonymous SNV K228E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.4 172104 chr17 79898810 79898810 C T MYADML2 Nonsynonymous SNV G270S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.26 172105 chr19 15918176 15918176 G A rs199635047 OR10H1 Synonymous SNV A224A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.104 172106 chr20 25228984 25228984 C G rs146966138 PYGB Nonsynonymous SNV A57G 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Likely benign 25.7 172107 chr10 33103364 33103364 G A rs117833411 CCDC7 Nonsynonymous SNV R1055Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.253 172108 chr14 76525063 76525063 T C IFT43 Synonymous SNV L98L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.884 172109 chr1 75038610 75038610 C T rs555527402 ERICH3 Synonymous SNV S928S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.68 172110 chr1 3102751 3102751 G A rs187194973 PRDM16 Nonsynonymous SNV A34T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 22.4 172111 chr10 43870986 43870986 G A FXYD4 Nonsynonymous SNV G46E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 172112 chr14 77944649 77944649 G A rs140279338 ISM2 Nonsynonymous SNV P263L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.811 172113 chr14 77984501 77984501 T A rs149054777 SPTLC2 Synonymous SNV G483G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 9.743 172114 chr1 78163063 78163063 T C USP33 Nonsynonymous SNV H892R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.852 172115 chr17 909326 909326 G A rs35089910 ABR Synonymous SNV D309D 0 0.005 0 4 0 2 0.01 0 0 0 0 0 10.75 172116 chr1 86581010 86581010 G A rs532783486 COL24A1 Nonsynonymous SNV R515W 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.5 172117 chr10 48382233 48382233 A G RBP3 Nonsynonymous SNV M1139T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 172118 chr10 48413641 48413641 C T rs782393389 GDF2 Nonsynonymous SNV M409I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.4 172119 chr1 86961301 86961301 C T rs373476030 CLCA1 Nonsynonymous SNV R686W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.4 172120 chr14 92537379 92537379 T C rs12896583 ATXN3 Nonsynonymous SNV T15A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Likely benign 0.003 172121 chr1 37947336 37947336 G A rs16824179 ZC3H12A Nonsynonymous SNV V240M 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.3 172122 chr19 18255396 18255396 C A MAST3 Nonsynonymous SNV A873D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 172123 chr20 372097 372097 G A rs35051116 TRIB3 Nonsynonymous SNV R153H 0.003 0.003 0.007 3 4 1 0.008 2 0 0 1 0 22.7 172124 chr10 55582168 55582168 G C rs745583797 PCDH15 Nonsynonymous SNV P1733R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.21 172125 chr1 898587 898587 C T KLHL17 Nonsynonymous SNV R381W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 172126 chr11 58919248 58919248 G A rs143326650 FAM111A Nonsynonymous SNV C36Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.988 172127 chr14 103569015 103569015 G T EXOC3L4 Nonsynonymous SNV A319S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 172128 chr15 54307477 54307477 A G UNC13C Nonsynonymous SNV S793G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.237 172129 chr1 202287772 202287772 G A rs377488466 LGR6 Nonsynonymous SNV A642T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.69 172130 chr19 2805061 2805061 G A rs760588898 THOP1 Nonsynonymous SNV G213S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 172131 chr1 46871089 46871089 G A FAAH Nonsynonymous SNV A164T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 172132 chr19 2917609 2917609 C T rs143306050 ZNF57 Synonymous SNV H298H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.253 172133 chr1 204128705 204128705 T C REN Nonsynonymous SNV T171A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.724 172134 chr18 3814082 3814082 G A rs866492552 DLGAP1 Synonymous SNV S81S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.52 172135 chr1 205589718 205589718 G A ELK4 Synonymous SNV L152L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.729 172136 chr19 33355111 33355112 CG - SLC7A9 T123Ifs*85 0.002 0 0 0 2 0 0 0 0 0 0 0 172137 chr10 88441517 88441517 A T rs765199175 LDB3 Nonsynonymous SNV M216L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 0.124 172138 chr1 206821423 206821423 G A DYRK3 Nonsynonymous SNV D294N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 172139 chr11 7110777 7110777 C T rs532103777 RBMXL2 Synonymous SNV S142S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.304 172140 chr20 6021755 6021755 C T rs376035754 LRRN4 Synonymous SNV L712L 0.001 0.003 0 9 1 1 0.023 0 0 0 0 0 6.368 172141 chr15 71341780 71341780 A T rs148687063 LRRC49 Synonymous SNV T635T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 172142 chr15 37039232 37039232 G A rs925109278 C15orf41 Synonymous SNV A271A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.746 172143 chr19 36124122 36124122 C T rs140377350 RBM42 Synonymous SNV L189L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.294 172144 chr15 74219564 74219564 C G rs368501200 LOXL1 Nonsynonymous SNV S147C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 172145 chr1 21031292 21031292 G A rs201424643 KIF17 Synonymous SNV L257L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.254 172146 chr1 60456364 60456364 C T rs138699493 C1orf87 Nonsynonymous SNV R541Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.83 172147 chr11 8752047 8752047 C T rs1032636472 DENND2B Nonsynonymous SNV E264K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 172148 chr15 74640387 74640387 G A rs777789264 CYP11A1 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.99 172149 chr15 75013051 75013051 C T rs145198866 CYP1A1 Nonsynonymous SNV D411N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 0.01 172150 chr1 62321812 62321812 T A rs775534037 PATJ Nonsynonymous SNV N741K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 172151 chr1 212798243 212798243 G A rs140634697 FAM71A Synonymous SNV P8P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.568 172152 chr15 83349424 83349424 C T rs377638665 AP3B2 Synonymous SNV T253T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.26 172153 chr15 83502077 83502077 A G rs199695328 WHAMM Nonsynonymous SNV N740S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 172154 chr15 84651321 84651321 C T rs140552733 ADAMTSL3 Nonsynonymous SNV R981W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 172155 chr10 104263940 104263940 G C SUFU Nonsynonymous SNV G11R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.2 172156 chr10 104263946 104263946 A C SUFU Nonsynonymous SNV T13P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 4.514 172157 chr10 104263949 104263949 G C SUFU Nonsynonymous SNV A14P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 172158 chr18 8798252 8798252 G A rs200421486 MTCL1 Nonsynonymous SNV R800Q 0 0 0 2 0 0 0.005 0 0 0 0 0 19.53 172159 chr10 104263951 104263951 G C SUFU Synonymous SNV A14A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.01 172160 chr19 38886726 38886726 G T SPRED3 Nonsynonymous SNV V392F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 172161 chr18 9533434 9533434 T C rs143047560 RALBP1 Synonymous SNV A519A 0 0 0.003 3 0 0 0.008 1 0 0 0 0 6.695 172162 chr15 86286933 86286933 C G rs151131218 AKAP13 Nonsynonymous SNV P1378A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 172163 chr1 78430572 78430572 C A FUBP1 Nonsynonymous SNV D240Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 172164 chr15 50773907 50773907 G A rs115970610 USP8 Nonsynonymous SNV R406Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 25.3 172165 chr15 52418218 52418218 T C rs34059787 GNB5 Synonymous SNV A270A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.921 172166 chr15 52510884 52510884 C G rs73404874 MYO5C Nonsynonymous SNV K1262N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11 172167 chr15 55475536 55475536 T C rs139024218 RSL24D1 Nonsynonymous SNV H132R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.37 172168 chr15 55516114 55516116 TCC - rs758624653 RAB27A E147del 0 0 0 1 0 0 0.003 0 0 0 0 0 172169 chr11 36057782 36057782 G A rs141902941 LDLRAD3 Nonsynonymous SNV S59N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.6 172170 chr15 57484419 57484419 C T rs148561378 TCF12 Nonsynonymous SNV P152S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.8 172171 chr1 896797 896797 G C KLHL17 Nonsynonymous SNV A78P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26 172172 chr15 95399032 95399032 C A rs184779992 LOC440311 0 0 0.014 0 0 0 0 4 0 0 0 0 18.53 172173 chr1 909363 909363 A C rs62639990 PLEKHN1 Synonymous SNV R494R 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.003 172174 chr11 47202176 47202176 C G PACSIN3 Nonsynonymous SNV A93P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.23 172175 chr1 914298 914298 G A rs570864131 PERM1 Synonymous SNV A704A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.864 172176 chr20 47881312 47881312 T G rs139047252 ZNFX1 Synonymous SNV R698R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.801 172177 chr1 22927447 22927447 C T rs367752791 EPHA8 Synonymous SNV H865H 0 0.005 0 0 0 2 0 0 0 0 0 0 13.16 172178 chr19 42729831 42729831 C T rs759256973 ZNF526 Nonsynonymous SNV P426S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.937 172179 chr15 63638840 63638840 C G rs747521259 CA12 Nonsynonymous SNV D59H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 172180 chr15 63970086 63970086 G T rs776068614 HERC1 Nonsynonymous SNV T2343K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 172181 chr19 14165172 14165172 C A rs144226401 PALM3 Nonsynonymous SNV V372L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.846 172182 chr19 14165406 14165406 C G rs199511171 PALM3 Nonsynonymous SNV E294Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.5 172183 chr20 13912343 13912343 T C rs377714335 SEL1L2 Synonymous SNV K63K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.02 172184 chr15 71184533 71184533 G A rs146694903 THAP10 Nonsynonymous SNV R27W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 172185 chr19 4511028 4511028 C T rs148858605 PLIN4 Nonsynonymous SNV G982S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 172186 chr16 19455403 19455403 G A rs536233546 TMC5 Synonymous SNV G263G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.283 172187 chr15 75248704 75248704 G A rs758842976 RPP25 Nonsynonymous SNV T74I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.46 172188 chr19 15564233 15564233 G C RASAL3 Nonsynonymous SNV S785R 0 0 0 4 0 0 0.01 0 0 0 0 0 15.55 172189 chr19 4511907 4511907 C T PLIN4 Nonsynonymous SNV A689T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 172190 chr15 77908217 77908217 C G LINGO1 Nonsynonymous SNV G11A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.062 172191 chr16 20976431 20976431 T C rs542974362 DNAH3 Synonymous SNV K2879K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 172192 chr16 22130236 22130236 G A rs183892488 VWA3A Nonsynonymous SNV R335Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.527 172193 chr19 45810791 45810791 G C rs150271912 CKM Nonsynonymous SNV L299V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.52 172194 chr16 25258556 25258556 C T rs372123893 ZKSCAN2 Nonsynonymous SNV A321T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.448 172195 chr16 27078360 27078360 A G C16orf82 Nonsynonymous SNV E15G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.453 172196 chr16 28146624 28146624 G A rs145018962 XPO6 Synonymous SNV L452L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 172197 chr20 2797356 2797356 G A rs781448830 TMEM239 Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 172198 chr20 30918081 30918081 A G rs41288640 KIF3B Synonymous SNV A702A 0.006 0 0.014 0 7 0 0 4 0 0 0 0 11.79 172199 chr16 29675217 29675217 C T rs139917471 SPN Synonymous SNV D56D 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 6.767 172200 chr16 29913147 29913147 C T rs201987338 ASPHD1 Synonymous SNV N285N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 172201 chr16 29994524 29994524 C T rs61738514 TAOK2 Synonymous SNV N377N 0 0 0.01 0 0 0 0 3 0 0 0 0 9.489 172202 chr16 30663128 30663128 A G PRR14 Nonsynonymous SNV Q12R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 172203 chr19 48248831 48248831 C T rs776909546 NOP53 Synonymous SNV G5G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.54 172204 chr19 1808284 1808284 C T rs376793117 ATP8B3 Synonymous SNV L98L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.66 172205 chr16 31121534 31121534 C A rs766053594 BCKDK Nonsynonymous SNV D144E 0 0 0.007 0 0 0 0 2 0 0 0 0 17.96 172206 chr22 21385419 21385419 C T SLC7A4 Nonsynonymous SNV G228D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 172207 chr22 21406610 21406610 G A rs544521349 LRRC74B Nonsynonymous SNV R232Q 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 29.5 172208 chr16 314143 314143 C G rs149439168 FAM234A Synonymous SNV L439L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 5.057 172209 chr15 89862219 89862219 G C rs146936870 POLG Synonymous SNV T1072T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.281 172210 chr15 90030069 90030069 T C rs142667714 RHCG Nonsynonymous SNV H111R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.21 172211 chr16 3789619 3789619 C T rs130015 CREBBP Nonsynonymous SNV V1376I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 172212 chr19 49469598 49469598 G T rs199869995 FTL Stop gain E104X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 39 172213 chr1 27101497 27101497 G T rs140978841 ARID1A Synonymous SNV R1593R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.894 172214 chr16 4559434 4559434 G C rs149714752 HMOX2 Nonsynonymous SNV A211P 0 0 0.01 0 0 0 0 3 0 0 0 0 19.51 172215 chr19 49935899 49935899 C G SLC17A7 Nonsynonymous SNV V343L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.299 172216 chr16 4755155 4755155 C T rs769880148 ANKS3 Nonsynonymous SNV R97Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 172217 chr11 57327858 57327866 CAGGTTCCG - rs760868315 UBE2L6 R23_L25del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 172218 chr16 4796477 4796477 G A rs560198956 C16orf71 Nonsynonymous SNV R382Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 172219 chr16 48139185 48139185 G A rs778912074 ABCC12 Synonymous SNV I846I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.394 172220 chr19 50399153 50399153 C G rs139062520 IL4I1 Synonymous SNV L57L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.998 172221 chr16 50100113 50100113 C T rs756382903 HEATR3 Nonsynonymous SNV A24V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.37 172222 chr19 50726342 50726342 C T rs200818171 MYH14 Nonsynonymous SNV R189C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 172223 chr16 52107782 52107782 C G rs927308799 C16orf97 Nonsynonymous SNV K5N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.911 172224 chr1 33612882 33612882 G A rs758674028 TRIM62 Nonsynonymous SNV R321C 0 0.005 0.003 0 0 2 0 1 0 0 0 0 33 172225 chr1 33945011 33945011 G A rs199637332 ZSCAN20 Nonsynonymous SNV R41H 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 1.385 172226 chr16 57116375 57116375 A G rs148631614 NLRC5 Nonsynonymous SNV S1817G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 2.343 172227 chr15 102346593 102346593 C A rs770806297 OR4F6 Nonsynonymous SNV T224N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 172228 chr19 51379895 51379895 G T KLK2 Nonsynonymous SNV R23L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 172229 chr1 37945871 37945871 C T rs746897159 MIR6732 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.46 172230 chr1 38323142 38323142 G T rs41267341 MTF1 Nonsynonymous SNV D63E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 172231 chr16 1268589 1268589 C T rs72552053 CACNA1H Nonsynonymous SNV A1936V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.913 172232 chr19 3546409 3546409 T C rs772250354 MFSD12 Synonymous SNV S337S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.121 172233 chr16 67235317 67235317 C A ELMO3 Nonsynonymous SNV N258K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 172234 chr16 70287883 70287883 T C rs147319762 AARS Nonsynonymous SNV K820R 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 19.3 172235 chr16 1536013 1536013 G A rs564403932 PTX4 Nonsynonymous SNV T450M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 172236 chr11 4112541 4112541 C T rs141215990 STIM1 Nonsynonymous SNV S630F 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 172237 chr16 71220668 71220668 C T rs113448164 HYDIN Nonsynonymous SNV R71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.34 172238 chr22 39138550 39138550 C T rs780349096 SUN2 Nonsynonymous SNV R296H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 8.705 172239 chr19 36205612 36205612 C T rs775401448 ZBTB32 Synonymous SNV L28L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.557 172240 chr21 47848496 47848496 G A rs761765918 PCNT Nonsynonymous SNV R2443H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 34 172241 chr16 72831529 72831529 G A rs377314545 ZFHX3 Synonymous SNV P770P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.506 172242 chr22 17600853 17600853 G A TMEM121B Nonsynonymous SNV R389W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.8 172243 chr16 2514081 2514081 C - rs764463737 TEDC2 G338Efs*50 0 0 0 1 0 0 0.003 0 0 0 0 0 172244 chr16 75662499 75662499 C T rs571409000 KARS Nonsynonymous SNV A555T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 172245 chr11 64855571 64855571 C T rs1045544265 ZFPL1 Synonymous SNV R306R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.06 172246 chr11 65124624 65124624 A T rs1020180665 TIGD3 Nonsynonymous SNV S449C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 172247 chr16 77323186 77323186 G A rs75915391 ADAMTS18 Synonymous SNV N1003N 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 17.7 172248 chr11 65307330 65307330 G A rs779288121 LTBP3 Synonymous SNV D972D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.04 172249 chr11 65374189 65374189 T C rs891816160 MAP3K11 Nonsynonymous SNV T526A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 172250 chr22 43821167 43821167 C A MPPED1 Nonsynonymous SNV T59N 0 0.003 0 0 0 1 0 0 0 0 0 0 23 172251 chr22 21333654 21333654 C T AIFM3 Synonymous SNV Y524Y 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.65 172252 chr19 39396028 39396028 C T rs148134026 NFKBIB Nonsynonymous SNV P72S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.373 172253 chr16 84125397 84125397 G A rs770721658 MBTPS1 Synonymous SNV I301I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 172254 chr11 67190928 67190928 G A rs200047923 CARNS1 Nonsynonymous SNV R447Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.22 172255 chr11 67259577 67259577 G A rs61749181 PITPNM1 Nonsynonymous SNV P1220L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 172256 chr11 67266164 67266164 C T rs61755426 PITPNM1 Nonsynonymous SNV V463I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 172257 chr16 8890234 8890234 G A rs377436849 TMEM186 Stop gain R73X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 172258 chr22 24582090 24582090 G A SUSD2 Synonymous SNV R482R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.514 172259 chr16 9210603 9210603 A G rs34869458 C16orf72 Nonsynonymous SNV N221S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.841 172260 chr16 11002000 11002000 G A rs374443915 CIITA Nonsynonymous SNV R884H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.343 172261 chr19 41762393 41762393 C T rs750332848 AXL Synonymous SNV F423F 0 0 0 2 0 0 0.005 0 0 0 0 0 17.08 172262 chr22 25246247 25246247 G A rs200873208 SGSM1 Synonymous SNV A101A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 16.37 172263 chr19 41765576 41765576 G A rs763066660 AXL Nonsynonymous SNV E550K 0 0 0 2 0 0 0.005 0 0 0 0 0 33 172264 chr19 41825632 41825632 C T rs760623895 CCDC97 Nonsynonymous SNV P154L 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 172265 chr16 11770124 11770124 C T rs749905260 SNN Nonsynonymous SNV P70L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 172266 chr19 4217001 4217001 A C rs202017923 ANKRD24 Nonsynonymous SNV E615A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.748 172267 chr16 88643633 88643633 C T rs34829088 ZC3H18 Synonymous SNV S34S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 14.49 172268 chr21 33696907 33696907 A G rs372635275 URB1 Synonymous SNV L1709L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.924 172269 chr16 88782855 88782855 G A rs35917730 PIEZO1 Synonymous SNV N2321N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 6.849 172270 chr16 88783440 88783440 G T rs117669855 PIEZO1 Synonymous SNV G2217G 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 0.289 172271 chr21 34635174 34635174 A G IFNAR2 Nonsynonymous SNV Y306C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.619 172272 chr19 56733379 56733379 T G rs531722937 ZSCAN5A Synonymous SNV A235A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.643 172273 chr1 6631063 6631063 A G rs375786707 TAS1R1 Nonsynonymous SNV I96V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 172274 chr21 35281460 35281460 C T rs559600046 ATP5PO Nonsynonymous SNV R85H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 172275 chr21 37618348 37618348 T C rs145552235 DOP1B Nonsynonymous SNV M1357T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 172276 chr21 38308993 38308993 G T HLCS Nonsynonymous SNV T398N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 172277 chr11 8123157 8123157 G A rs186542220 TUB Synonymous SNV A504A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.93 172278 chr22 34000429 34000429 C T rs776803926 LARGE1 Nonsynonymous SNV E203K 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 26.7 172279 chr17 10267751 10267751 C T rs369233539 MYH13 Nonsynonymous SNV D33N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 172280 chr1 7887234 7887234 C T rs35687686 PER3 Nonsynonymous SNV R749W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 26.7 172281 chr11 85435357 85435357 G A rs73502601 SYTL2 Nonsynonymous SNV P1682S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 172282 chr22 37333973 37333973 C - rs1060499852 CSF2RB S709Lfs*22 0.007 0.013 0 3 8 5 0.008 0 0 0 0 0 172283 chr19 58772778 58772778 G A rs777818335 ZNF544 Nonsynonymous SNV S241N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.235 172284 chr22 37420423 37420423 G T rs201058049 MPST Nonsynonymous SNV G56V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.3 172285 chr16 30124072 30124072 C G rs375485050 GDPD3 Nonsynonymous SNV Q75H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.72 172286 chr16 30566998 30566998 C A rs369303755 ZNF764 Synonymous SNV S247S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.3 172287 chr16 30903988 30903988 G T rs578156778 BCL7C Nonsynonymous SNV P121T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 172288 chr16 31099000 31099000 C T rs201075024 PRSS53 Nonsynonymous SNV G34S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 26.2 172289 chr19 6665273 6665273 G T TNFSF14 Nonsynonymous SNV H93Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 172290 chr16 31277355 31277355 G A rs201182589 ITGAM Nonsynonymous SNV C105Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 172291 chr11 95826310 95826310 G A rs200660207 MAML2 Synonymous SNV D295D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.013 172292 chr17 18051861 18051861 C T rs199831544 MYO15A Nonsynonymous SNV A2248V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 172293 chr19 47214270 47214270 C G rs553302740 PRKD2 Nonsynonymous SNV Q135H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 172294 chr19 47225504 47225504 C A STRN4 Nonsynonymous SNV R674L 0 0 0 2 0 0 0.005 0 0 0 0 0 31 172295 chr22 42166956 42166956 C T rs142374178 MEI1 Synonymous SNV L845L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.1 172296 chr22 42322243 42322243 G A rs140820836 TNFRSF13C Synonymous SNV L77L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 9.066 172297 chr19 47570184 47570184 G C rs948175941 ZC3H4 Nonsynonymous SNV S1114C 0 0 0 2 0 0 0.005 0 0 0 0 0 12.67 172298 chr22 42418294 42418294 A C rs79752355 WBP2NL Nonsynonymous SNV S150R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.499 172299 chr11 102712989 102712989 A G rs782669256 MMP3 Nonsynonymous SNV F174S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 172300 chr17 19643714 19643714 A C ALDH3A1 Nonsynonymous SNV M295R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 172301 chr22 43015787 43015787 C T rs61743746 CYB5R3 Nonsynonymous SNV V300I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 12.14 172302 chr22 43023686 43023686 C T rs75478217 CYB5R3 Nonsynonymous SNV A158T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.2 172303 chr16 56864491 56864491 C T rs746856372 NUP93 Nonsynonymous SNV R204C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 172304 chr22 43089470 43089470 T C rs28915383 A4GALT Nonsynonymous SNV Q163R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 0.001 172305 chr17 21101677 21101677 A G rs891918221 TMEM11 Nonsynonymous SNV V180A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.352 172306 chr22 43558984 43558984 G T rs8192467 TSPO Nonsynonymous SNV R166L 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 19.6 172307 chr2 141359119 141359119 T A rs773577002 LRP1B Nonsynonymous SNV T2297S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 172308 chr19 813200 813200 G A rs769567350 PLPPR3 Synonymous SNV P537P 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 4.857 172309 chr16 57507440 57507440 G A DOK4 Nonsynonymous SNV A316V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 172310 chr22 18301129 18301129 C T rs770960991 MICAL3 Nonsynonymous SNV S1433N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 172311 chr2 152490423 152490423 G A NEB Synonymous SNV N3053N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.206 172312 chr19 49458967 49458967 G A rs751678403 BAX Nonsynonymous SNV R37Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.7 172313 chr16 66613767 66613767 G T rs146637368 CMTM2 Nonsynonymous SNV G86V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 172314 chr17 2298312 2298312 G T rs142423617 MNT Synonymous SNV P170P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.129 172315 chr19 49573786 49573786 C A rs968299269 KCNA7 Nonsynonymous SNV G302V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.6 172316 chr16 67244036 67244036 C T rs144432566 LRRC29 Nonsynonymous SNV R19Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.93 172317 chr17 26671538 26671538 T C TNFAIP1 Nonsynonymous SNV L288P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 172318 chr19 49657713 49657713 - CATCAT HRC D261_V262insDD 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 172319 chr22 19839516 19839516 C T rs79220086 RTL10 Nonsynonymous SNV R90Q 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 17.73 172320 chr22 20043512 20043512 C T TANGO2 Nonsynonymous SNV P45S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 172321 chr17 26919343 26919343 A T SPAG5 Nonsynonymous SNV C307S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 172322 chr22 20781732 20781732 G A rs150853613 SCARF2 Nonsynonymous SNV S554L 0.003 0 0 0 3 0 0 0 0 0 0 0 26 172323 chr19 50156895 50156895 G A rs549455643 SCAF1 Synonymous SNV T1083T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 13.43 172324 chr19 501701 501701 G A rs72970252 MADCAM1 Nonsynonymous SNV D234N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.639 172325 chr19 50172323 50172323 G A rs144084578 BCL2L12 Nonsynonymous SNV R210Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 26.6 172326 chr16 71683789 71683789 G A PHLPP2 Synonymous SNV S925S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.579 172327 chr19 50384677 50384677 C T rs57256087 TBC1D17 Nonsynonymous SNV R125C 0 0 0 2 0 0 0.005 0 0 0 0 0 32 172328 chr20 18022341 18022341 C T rs769786984 OVOL2 Synonymous SNV S116S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.48 172329 chr17 33326809 33326809 C A rs531599539 LIG3 Nonsynonymous SNV S755R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 172330 chr22 23401668 23401668 G A rs141981803 RSPH14 Nonsynonymous SNV A340V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.9 172331 chr19 51129218 51129218 C T rs201091203 SYT3 Synonymous SNV G446G 0 0 0 2 0 0 0.005 0 0 0 0 0 16.43 172332 chr22 51159093 51159093 G A SHANK3 Synonymous SNV P1005P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.449 172333 chr22 26165065 26165065 G C rs201312229 MYO18B Nonsynonymous SNV K394N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.997 172334 chr20 20232371 20232371 C T rs771889053 CFAP61 Synonymous SNV Y764Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.905 172335 chr22 26859975 26859975 T C rs202104505 HPS4 Nonsynonymous SNV M536V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.9 172336 chr17 3665235 3665235 C T rs148939741 ITGAE Nonsynonymous SNV V97I 0 0 0.007 0 0 0 0 2 0 0 0 0 14.42 172337 chr17 37791880 37791880 G A rs142405059 PPP1R1B Nonsynonymous SNV G120S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 172338 chr17 38027749 38027749 C G rs377545293 ZPBP2 Nonsynonymous SNV Q71E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.043 172339 chr2 110036063 110036063 G A rs200938034 SH3RF3 Synonymous SNV Q456Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.285 172340 chr20 25656899 25656899 T A rs777019699 ZNF337 Nonsynonymous SNV H342L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.2 172341 chr2 177195341 177195341 A G rs74492834 MTX2 Synonymous SNV Q168Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.586 172342 chr20 2639463 2639463 G A IDH3B Synonymous SNV G364G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.526 172343 chr22 31286781 31286781 C A OSBP2 Nonsynonymous SNV L108M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 172344 chr20 32345065 32345065 G A rs34320940 ZNF341 Nonsynonymous SNV A195T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.827 172345 chr17 3920884 3920884 C T rs2676278 ZZEF1 Synonymous SNV E2594E 0 0 0.014 1 0 0 0.003 4 0 0 0 0 13.69 172346 chr17 3920977 3920977 C T rs2676279 ZZEF1 Synonymous SNV V2563V 0 0 0.014 1 0 0 0.003 4 0 0 0 0 14.16 172347 chr20 33067540 33067540 C T rs147824534 ITCH Synonymous SNV Y478Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.58 172348 chr20 33328659 33328659 G C NCOA6 Nonsynonymous SNV P1801A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 172349 chr2 179647078 179647078 C T rs55914517 TTN Nonsynonymous SNV A1035T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 172350 chr16 87723932 87723932 C T rs201403180 JPH3 Nonsynonymous SNV R656W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 28.1 172351 chr19 53085693 53085693 T G ZNF701 Nonsynonymous SNV D127E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.009 172352 chr20 33703444 33703444 C T rs6060248 EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV R473Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.35 172353 chr2 121997199 121997199 G A rs143023699 TFCP2L1 Synonymous SNV Y265Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.055 172354 chr16 88502977 88502977 C A rs745592403 ZNF469 Synonymous SNV P3033P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.94 172355 chr16 88503120 88503120 C T rs1002115521 ZNF469 Nonsynonymous SNV T3081M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.8 172356 chr17 3955282 3955282 C T rs61747106 ZZEF1 Synonymous SNV A1861A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.08 172357 chr20 35506411 35506411 A G rs201403107 TLDC2 Nonsynonymous SNV Q48R 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 12.33 172358 chr1 110587682 110587682 C T rs375567118 STRIP1 Synonymous SNV S371S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 15.12 172359 chr16 88783014 88783014 G A rs558982192 PIEZO1 Synonymous SNV Y2293Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.012 172360 chr16 88930722 88930722 G A PABPN1L Nonsynonymous SNV T211I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.252 172361 chr12 2939916 2939916 C A rs781702788 NRIP2 Nonsynonymous SNV K151N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.628 172362 chr17 4076669 4076669 G A rs9895220 ANKFY1 Synonymous SNV D1040D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.98 172363 chr22 41832496 41832496 G C TOB2 Nonsynonymous SNV P285R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.46 172364 chr2 191551989 191551989 G A rs149505976 NAB1 Nonsynonymous SNV V411M 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 19.79 172365 chr22 42301554 42301554 C T rs11538312 SREBF2 Synonymous SNV L1106L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.75 172366 chr20 44180595 44180671 CAAAACTGACAGCTCTTTATCATGCTACTCATAATTAATGATTTTGATGATAATATTTTCTACTTACTATTCAACGT - WFDC8 R240Sfs*17 0 0.003 0 0 0 1 0 0 0 0 0 0 172367 chr11 57311126 57311126 - CAGGAC SMTNL1 D256_V257insQD 0.001 0 0 0 1 0 0 0 0 0 0 0 172368 chr20 47249169 47249169 C T rs775745569 PREX1 Nonsynonymous SNV V1426I 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 10.48 172369 chr1 119929429 119929429 G A rs149105856 HAO2 Nonsynonymous SNV R249K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.9 172370 chr17 2604689 2604689 G A rs375026335 CLUH Synonymous SNV T290T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.55 172371 chr19 5594146 5594146 G T rs200752923 SAFB2 Nonsynonymous SNV H655N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.631 172372 chr1 1225681 1225681 A T rs768639850 SCNN1D Nonsynonymous SNV M565L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 172373 chr17 47009038 47009038 A G rs532709763 SNF8 Synonymous SNV L185L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.76 172374 chr17 4781671 4781671 G T MINK1 Synonymous SNV V39V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.767 172375 chr1 1269692 1269692 C T rs145408540 TAS1R3 Synonymous SNV L803L 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 5.391 172376 chr22 51159953 51159953 G A rs750186589 SHANK3 Nonsynonymous SNV R1292H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 172377 chr17 54935957 54935957 G A rs139907704 DGKE Synonymous SNV A405A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 172378 chr17 56285504 56285504 G A rs200350173 MKS1 Nonsynonymous SNV T173M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 172379 chr11 61110081 61110081 C T rs565481152 TKFC Synonymous SNV L242L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 16.24 172380 chr17 5087386 5087386 T C ZNF594 Nonsynonymous SNV M56V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 172381 chr20 6012659 6012659 G A rs543242542 CRLS1 Nonsynonymous SNV R122Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 172382 chr17 5298288 5298288 C T rs147533029 NUP88 Synonymous SNV K435K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.95 172383 chr2 219677769 219677769 C T rs371603253 CYP27A1 Nonsynonymous SNV R323W 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 26 172384 chr17 6663899 6663899 G T rs146752602 XAF1 Stop gain E115X 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 25 172385 chr2 220103831 220103831 G A rs766106152 GLB1L Stop gain R259X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 172386 chr17 62024462 62024462 C A SCN4A Synonymous SNV L1128L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.75 172387 chr12 26636769 26636769 A G rs139925842 ITPR2 Synonymous SNV F1958F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.211 172388 chr2 11758991 11758991 G A rs749361986 GREB1 Synonymous SNV E1330E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.4 172389 chr17 67031829 67031829 G A rs777687596 ABCA9 Nonsynonymous SNV T305I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 172390 chr17 67161107 67161107 G C rs138716621 ABCA10 Nonsynonymous SNV Q1094E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 172391 chr17 67212003 67212003 C G rs138150328 ABCA10 Nonsynonymous SNV V271L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 172392 chr2 18741527 18741527 G A rs369505817 RDH14 Synonymous SNV S104S 0.005 0.003 0.014 1 6 1 0.003 4 0 0 0 0 10.81 172393 chr17 9763342 9763342 C A rs774116566 GLP2R Synonymous SNV L283L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.37 172394 chr12 42592985 42592985 G A rs901726064 YAF2 Synonymous SNV L26L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 16.14 172395 chr17 10451197 10451197 G A rs770499680 MYH2 Nonsynonymous SNV A14V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 172396 chr17 10538795 10538795 C T MYH3 Nonsynonymous SNV G1354D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 172397 chr2 196851890 196851890 G A rs762764737 DNAH7 Nonsynonymous SNV H552Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23 172398 chr17 12819272 12819272 C T rs138485127 ARHGAP44 Nonsynonymous SNV H111Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 172399 chr11 68315549 68315551 AAA - rs766998683 PPP6R3 K55del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 172400 chr21 34400097 34400097 T C rs146665636 OLIG2 Synonymous SNV A309A 0.007 0.003 0 6 8 1 0.015 0 0 0 0 0 8.014 172401 chr17 17719989 17719989 C T rs7214136 SREBF1 Nonsynonymous SNV R586Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.5 172402 chr17 74073386 74073386 C G rs8192514 GALR2 Nonsynonymous SNV S346R 0.005 0 0.007 0 6 0 0 2 0 0 0 0 23.2 172403 chr17 17720391 17720391 A G rs2229591 SREBF1 Synonymous SNV L532L 0 0 0.01 1 0 0 0.003 3 0 0 1 0 10.59 172404 chr2 237349715 237349715 C G rs191563773 IQCA1 Nonsynonymous SNV A327P 0.008 0.003 0.014 1 9 1 0.003 4 1 0 0 0 22.6 172405 chr21 35821681 35821681 G A rs138884514 KCNE1, KCNE1B Synonymous SNV S84S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 0.871 172406 chr17 74729443 74729443 A G rs760706531 METTL23 Nonsynonymous SNV T64A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 172407 chr17 7484094 7484094 C T rs150600556 CD68 Synonymous SNV H224H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.896 172408 chr17 19861465 19861465 A G AKAP10 Nonsynonymous SNV S247P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.24 172409 chr2 240061400 240061400 C T rs73000144 HDAC4 Nonsynonymous SNV V320I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 15.25 172410 chr2 241511887 241511887 C T rs747095703 RNPEPL1 Synonymous SNV F192F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.3 172411 chr2 241513651 241513651 G A rs139059683 RNPEPL1 Nonsynonymous SNV E354K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 172412 chr21 43161427 43161427 G A rs201057277 RIPK4 Synonymous SNV H642H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 3.284 172413 chr2 211018535 211018535 C T rs748582315 KANSL1L Nonsynonymous SNV G258S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.64 172414 chr12 52908892 52908892 C T rs200916228 KRT5 Nonsynonymous SNV S536N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 172415 chr21 43412699 43412699 G A rs141677701 ZBTB21 Synonymous SNV H502H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 172416 chr2 241988126 241988126 G A rs201141946 SNED1 Nonsynonymous SNV A483T 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 8.042 172417 chr12 52965758 52965758 T C rs748307363 KRT74 Synonymous SNV T239T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.287 172418 chr2 242051654 242051654 C T rs140030739 PASK 0.006 0.008 0.003 7 7 3 0.018 1 0 0 0 0 Uncertain significance 27.9 172419 chr1 16534524 16534524 G A rs375332806 ARHGEF19 Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 172420 chr2 171259428 171259428 T C MYO3B Nonsynonymous SNV F734L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.1 172421 chr17 7852762 7852762 C T rs530637849 CNTROB Synonymous SNV P904P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 172422 chr17 79093298 79093298 G A rs78044428 AATK Synonymous SNV P1219P 0 0 0.01 0 0 0 0 3 0 0 0 0 12.26 172423 chr17 79094895 79094895 A G rs61743697 AATK Synonymous SNV P844P 0 0 0.01 0 0 0 0 3 0 0 0 0 3.668 172424 chr17 29119630 29119630 T C rs191508796 SUZ12P1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.371 172425 chr17 29161991 29161991 G A rs186417181 ATAD5 Nonsynonymous SNV E298K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.31 172426 chr17 29220452 29220452 C T rs115791409 ATAD5 Synonymous SNV N1527N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.67 172427 chr17 29227513 29227513 T C rs200291958 TEFM Nonsynonymous SNV K188R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.19 172428 chr11 94731286 94731286 G A rs587654414 KDM4D Synonymous SNV S250S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.569 172429 chr12 53587499 53587499 C T rs751788893 ITGB7 Nonsynonymous SNV V499I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.18 172430 chr21 45945555 45945555 C T rs782043381 TSPEAR Synonymous SNV A439A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 17.77 172431 chr1 172387446 172387446 C T rs1031158927 DNM3 Stop gain R856X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 172432 chr1 10521657 10521657 G A rs137950953 DFFA Nonsynonymous SNV R296C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 27.9 172433 chr11 102573706 102573706 G T rs751031968 MMP27 Nonsynonymous SNV T162N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 172434 chr1 110033544 110033544 G A ATXN7L2 Synonymous SNV K485K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.727 172435 chr21 47904721 47904721 G A rs771182414 DIP2A Nonsynonymous SNV R48H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 172436 chr1 110466402 110466402 A G rs138694348 CSF1 Nonsynonymous SNV T387A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.736 172437 chr17 9862555 9862555 C T rs142589082 GAS7 Synonymous SNV S23S 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 19.46 172438 chr2 182346377 182346377 C T rs200276996 ITGA4 Synonymous SNV V269V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 172439 chr18 12697321 12697321 C G rs74943012 CEP76 Nonsynonymous SNV G128R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22.7 172440 chr17 38975329 38975329 - CCGCCGCCGGAGCTT KRT10 G486_H487insSSGGG 0.003 0 0 1 3 0 0.003 0 0 0 0 0 172441 chr1 182442758 182442758 G A rs200412649 RGSL1 Nonsynonymous SNV R171K 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 172442 chr12 59267922 59267922 C A rs199709369 LRIG3 Nonsynonymous SNV M950I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.013 172443 chr1 183086687 183086687 A T rs140649474 LAMC1 Nonsynonymous SNV Q569L 0.001 0 0 0 1 0 0 0 0 0 0 0 28 172444 chr2 233394846 233394846 G A rs202209156 CHRND Nonsynonymous SNV D258N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Likely benign 24.3 172445 chr22 22064995 22064995 A G YPEL1 Synonymous SNV Y13Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.087 172446 chr1 186319400 186319400 T C rs759882391 TPR Nonsynonymous SNV M911V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.656 172447 chr2 234704952 234704952 C T MROH2A Synonymous SNV S415S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.66 172448 chr2 200790050 200790050 A G rs150129946 C2orf69 Nonsynonymous SNV N200S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.255 172449 chr12 80752532 80752532 A G rs757506970 OTOGL Nonsynonymous SNV Q2059R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.82 172450 chr22 26173670 26173670 G A rs547076224 MYO18B Nonsynonymous SNV A664T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 172451 chr1 11918379 11918379 C A rs35640285 NPPB Nonsynonymous SNV V94F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Benign 10.51 172452 chr22 26761396 26761396 G C rs146764929 SEZ6L Synonymous SNV L822L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.839 172453 chr1 1223331 1223331 C T rs771368623 SCNN1D Nonsynonymous SNV R526W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.4 172454 chr12 85266483 85266483 T C rs1036254593 SLC6A15 Synonymous SNV A293A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.64 172455 chr18 47753885 47753885 G A rs202140882 CFAP53 Stop gain R471X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 172456 chr2 239038982 239038982 G A rs575819096 ESPNL Nonsynonymous SNV E175K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 172457 chr22 26895517 26895517 A T rs75486435 TFIP11 Nonsynonymous SNV D263E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 172458 chr22 26995604 26995604 C T CRYBB1 Synonymous SNV G203G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.59 172459 chr1 197509107 197509107 C T rs140388741 DENND1B Nonsynonymous SNV R501H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.531 172460 chr18 48452184 48452184 C T rs142095996 ME2 Synonymous SNV I410I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 13.86 172461 chr1 1362951 1362951 T C rs767520183 TMEM88B Synonymous SNV G92G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.019 172462 chr17 40344664 40344664 G A rs912603257 GHDC Stop gain R162X 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 172463 chr14 23829485 23829485 A G rs768946317 EFS Synonymous SNV Y8Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 172464 chr12 96368114 96368114 T G HAL Synonymous SNV R416R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.739 172465 chr2 241987827 241987827 G A rs774463528 SNED1 Nonsynonymous SNV E457K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 172466 chr1 150940179 150940179 G C rs759815286 CERS2 Nonsynonymous SNV F160L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.79 172467 chr18 61570158 61570158 C T SERPINB2 Synonymous SNV D289D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 172468 chr2 215595164 215595164 G A rs3738888 BARD1 Nonsynonymous SNV R145C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 172469 chr18 6992683 6992683 T A rs16950981 LAMA1 Nonsynonymous SNV D1682V 0.007 0.008 0.02 3 8 3 0.008 6 0 0 0 0 18.89 172470 chr2 75107616 75107616 G A rs145124653 HK2 Nonsynonymous SNV R497Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 172471 chr1 205799454 205799454 T A rs202094864 PM20D1 Nonsynonymous SNV I447F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 172472 chr22 37414181 37414181 A G rs150710540 TST Nonsynonymous SNV V198A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.203 172473 chr12 111908545 111908545 T C rs140262591 ATXN2 Synonymous SNV V711V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Uncertain significance 12.7 172474 chr11 129743814 129743814 C A rs200732701 NFRKB Synonymous SNV R817R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.13 172475 chr11 129743815 129743815 C A rs199620302 NFRKB Nonsynonymous SNV R817L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 172476 chr1 154192874 154192874 C A C1orf43 Nonsynonymous SNV G4C 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 25.3 172477 chr1 154223658 154223658 C T rs202092808 UBAP2L Nonsynonymous SNV P452L 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 23.4 172478 chr1 154232327 154232327 A G rs775172764 SNORA58B 0 0 0 2 0 0 0.005 0 0 0 0 0 6.096 172479 chr2 219300021 219300021 G A rs755731799 VIL1 Nonsynonymous SNV G564R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 172480 chr17 48627638 48627638 G A rs143489120 SPATA20 Nonsynonymous SNV A339T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 32 172481 chr2 86993040 86993040 A G rs567343939 RMND5A Synonymous SNV P249P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.48 172482 chr1 21036291 21036291 C T rs149625740 KIF17 Nonsynonymous SNV V171M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 172483 chr1 155747446 155747446 T C rs767837641 GON4L Synonymous SNV A686A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.286 172484 chr1 2125504 2125504 A C FAAP20 Nonsynonymous SNV L44R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 172485 chr22 39826049 39826049 C T rs118074217 TAB1 Nonsynonymous SNV T446I 0 0.003 0 0 0 1 0 0 0 0 0 0 33 172486 chr2 33534566 33534566 T C LTBP1 Nonsynonymous SNV S857P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.7 172487 chr19 10262443 10262443 C T DNMT1 Synonymous SNV Q684Q 0 0 0.007 0 0 0 0 2 0 0 0 0 14.65 172488 chr1 1563695 1563695 C T rs372585507 MIB2 Synonymous SNV D678D 0 0 0 2 0 0 0.005 0 0 0 0 0 18.15 172489 chr2 99172065 99172065 G A INPP4A Nonsynonymous SNV R539H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26.9 172490 chr14 58958923 58958923 A G rs3783697 KIAA0586 Nonsynonymous SNV D1167G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 28.9 172491 chr19 10477229 10477229 C T rs370420133 TYK2 Nonsynonymous SNV A165T 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 172492 chr2 99279812 99279812 C A rs76878531 MGAT4A Nonsynonymous SNV S4I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 2.393 172493 chr2 223423283 223423283 T C rs142734707 SGPP2 Nonsynonymous SNV I161T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 172494 chr1 22166460 22166460 C G rs149644947 HSPG2 Nonsynonymous SNV Q3189H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.09 172495 chr12 7045891 7045891 - CAGCAGCAGCAGCAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 172496 chr12 125396320 125396320 G A rs139145386 UBC Synonymous SNV D666D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.52 172497 chr1 158449758 158449758 G A rs62621279 OR10R2 Nonsynonymous SNV E31K 0 0 0 3 0 0 0.008 0 0 0 0 0 23.5 172498 chr1 158450529 158450529 T A rs62621280 OR10R2 Nonsynonymous SNV S288T 0 0 0 3 0 0 0.008 0 0 0 0 0 11.14 172499 chr3 108754222 108754222 C A rs114626925 MORC1 Nonsynonymous SNV R475I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.5 172500 chr1 158532842 158532842 G A rs116531378 OR6P1 Nonsynonymous SNV L185F 0 0 0 3 0 0 0.008 0 0 0 0 0 23.2 172501 chr1 158636224 158636224 C T rs12090314 SPTA1 Nonsynonymous SNV R701H 0 0.003 0.014 4 0 1 0.01 4 0 0 1 0 Benign 18.17 172502 chr1 158669684 158669684 A G rs61322025 OR6K2 Synonymous SNV F253F 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.022 172503 chr1 158687744 158687744 A G rs145868292 OR6K3 Synonymous SNV H54H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.003 172504 chr17 71380046 71380046 G T rs976677346 SDK2 Nonsynonymous SNV N1558K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.685 172505 chr19 13947296 13947296 G A rs11671784 LOC284454, MIR27A 0 0 0.031 0 0 0 0 9 0 0 0 0 10.47 172506 chr1 158988413 158988413 T C rs148343140 IFI16 Nonsynonymous SNV I259T 0 0 0 2 0 0 0.005 0 0 0 0 0 9.677 172507 chr19 1460800 1460800 G A rs35991061 APC2 Nonsynonymous SNV G488S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 172508 chr17 72366664 72366664 C - rs569465136 GPR142 Q34Sfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 172509 chr2 234590866 234590866 G A rs761343712 UGT1A7 Nonsynonymous SNV D95N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 172510 chr12 133240730 133240730 G A POLE Nonsynonymous SNV P856S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 26 172511 chr17 72926474 72926474 C T rs756150822 OTOP2 Synonymous SNV I248I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.183 172512 chr1 228437898 228437898 C T rs117627593 OBSCN Synonymous SNV C1422C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.33 172513 chr22 50469081 50469081 C T rs753801397 TTLL8 Nonsynonymous SNV G677S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 172514 chr13 25458122 25458122 C T rs151090294 CENPJ Nonsynonymous SNV G1268D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 33 172515 chr19 16145423 16145423 A G rs58028036 LINC00905 0 0 0.027 0 0 0 0 8 0 0 0 0 0.376 172516 chr19 16145533 16145533 A G rs61676158 LINC00905 0 0 0.027 0 0 0 0 8 0 0 0 0 0.046 172517 chr19 16145539 16145539 G A rs57540331 LINC00905 0 0 0.027 0 0 0 0 8 0 0 0 0 2.245 172518 chr19 16145617 16145617 C T rs554824920 LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 4.79 172519 chr19 16145653 16145653 G A rs73513754 LINC00905 0 0 0.027 0 0 0 0 8 0 0 0 0 4.314 172520 chr19 16145731 16145731 C A rs73513755 LINC00905 0 0 0.027 0 0 0 0 8 0 0 0 0 5.38 172521 chr1 163044293 163044293 G C rs201846465 RGS4 Nonsynonymous SNV K169N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.19 172522 chr12 13716674 13716674 G A rs45600931 GRIN2B Synonymous SNV S1166S 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 7.505 172523 chr17 74094056 74094056 A T EXOC7 Nonsynonymous SNV F113Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 172524 chr19 17122489 17122489 G A rs779986442 CPAMD8 Nonsynonymous SNV H116Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 172525 chr22 50869665 50869665 G A rs150819801 PPP6R2 Nonsynonymous SNV A397T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 172526 chr22 50882335 50882335 C G rs752922708 PPP6R2 Nonsynonymous SNV P848A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.541 172527 chr1 23236928 23236928 G A rs779937841 EPHB2 Synonymous SNV P794P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 172528 chr13 32606002 32606002 A C rs117725725 FRY Nonsynonymous SNV T24P 0 0.01 0 2 0 4 0.005 0 0 0 0 0 13.74 172529 chr22 50956614 50956614 G A rs141520277 NCAPH2 Nonsynonymous SNV V185I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.19 172530 chr1 2338330 2338330 C T rs371979619 PEX10 Nonsynonymous SNV R202H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.82 172531 chr2 242256952 242256952 T - SEPTIN2 C43Vfs*23 0.002 0.003 0 0 2 1 0 0 0 0 0 0 172532 chr17 76565496 76565496 C T rs779011710 DNAH17 Synonymous SNV T386T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 172533 chr17 76571032 76571032 G A rs190167225 DNAH17 Synonymous SNV N36N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.364 172534 chr17 76851797 76851797 G A rs200738772 TIMP2 Synonymous SNV R205R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 172535 chr12 29649589 29649589 C A rs201067443 OVCH1 Nonsynonymous SNV R28L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 172536 chr2 26407551 26407551 C T rs778477410 GAREM2 Synonymous SNV Y201Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 172537 chr19 1969873 1969873 G A CSNK1G2 Synonymous SNV G34G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.819 172538 chr19 19869109 19869109 C T rs140327277 LINC00663 0 0 0.01 0 0 0 0 3 0 0 0 0 2.505 172539 chr2 26800439 26800439 T C rs199570353 FAM166C Nonsynonymous SNV V135A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.45 172540 chr13 49765386 49765386 A G FNDC3A Nonsynonymous SNV S642G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.829 172541 chr1 24507252 24507252 G C IFNLR1 Nonsynonymous SNV Q51E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 172542 chr1 247021046 247021046 T C AHCTF1 Synonymous SNV L1401L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.082 172543 chr19 2933602 2933602 C T rs139100623 ZNF77 Nonsynonymous SNV R508H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 172544 chr19 32845224 32845224 T G rs147974433 ZNF507 Synonymous SNV A496A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.226 172545 chr1 185878632 185878632 A G rs60502467 HMCN1 Nonsynonymous SNV N262S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 15.68 172546 chr17 80050833 80050833 G T rs200752265 FASN Synonymous SNV R240R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.39 172547 chr13 88329983 88329983 C T rs143021000 SLITRK5 Synonymous SNV H780H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.56 172548 chr3 110863826 110863826 A G rs901553050 NECTIN3 Nonsynonymous SNV I361V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.056 172549 chr19 36317515 36317515 T C rs150319882 NPHS1 Synonymous SNV T1209T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.019 172550 chr19 36431537 36431537 G A rs538678134 LRFN3 Nonsynonymous SNV D404N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.937 172551 chr1 248343362 248343362 G A rs145713159 OR2M2 Synonymous SNV T25T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.389 172552 chr13 103394074 103394074 T A CCDC168 Nonsynonymous SNV R2991S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.075 172553 chr18 10666686 10666686 G A rs149133915 LOC101927410 0.001 0.005 0 5 1 2 0.013 0 0 0 0 0 2.717 172554 chr2 48925913 48925913 G A rs140148170 LHCGR Nonsynonymous SNV A236V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 172555 chr1 249211260 249211260 T C PGBD2 Synonymous SNV N159N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.308 172556 chr3 169487290 169487290 G C rs376453495 ACTRT3 Nonsynonymous SNV P7A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.2 172557 chr3 171969103 171969103 A T FNDC3B Nonsynonymous SNV S188C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 172558 chr18 21470071 21470071 C T rs764837343 LAMA3 Synonymous SNV P191P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.75 172559 chr13 115007622 115007622 C T rs538262761 CDC16 Synonymous SNV R42R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.29 172560 chr1 27440325 27440325 C T rs1006386569 SLC9A1 Nonsynonymous SNV V269I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 172561 chr3 183526922 183526922 C T YEATS2 Nonsynonymous SNV A1375V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 172562 chr1 31347320 31347320 G A rs2282440 SDC3 Nonsynonymous SNV T329I 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 association 21.1 172563 chr1 31349675 31349675 G A rs28364808 SDC3 Synonymous SNV A198A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.646 172564 chr12 56332709 56332709 A G rs149792147 DGKA Nonsynonymous SNV K137R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 172565 chr12 56514856 56514856 A G ZC3H10 Synonymous SNV G170G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.582 172566 chr19 42583137 42583137 G A ZNF574 Nonsynonymous SNV E217K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 172567 chr12 56748273 56748273 G A rs147605088 STAT2 Synonymous SNV H253H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 4.648 172568 chr1 3428172 3428172 C A rs186018990 MEGF6 Synonymous SNV G352G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.61 172569 chr18 45566753 45566753 G A rs145222846 ZBTB7C Synonymous SNV P242P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.854 172570 chr2 170147444 170147444 C T LRP2 Nonsynonymous SNV R278Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.05 172571 chr3 194117851 194117851 G C rs750181282 GP5 Nonsynonymous SNV S387R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 172572 chr1 36553597 36553597 A T TEKT2 Nonsynonymous SNV K368M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 172573 chr18 48723440 48723440 G A rs752602132 MEX3C Nonsynonymous SNV A84V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 172574 chr18 51750522 51750522 C T MBD2 Synonymous SNV P136P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.85 172575 chr1 39352333 39352333 G C rs753148958 RHBDL2 Nonsynonymous SNV A332G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 172576 chr1 39352337 39352337 T - rs776675778 RHBDL2 I331Lfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 172577 chr12 70004395 70004395 T C LRRC10 Nonsynonymous SNV Q75R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 172578 chr12 70304675 70304675 G A MYRFL Nonsynonymous SNV G523R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 172579 chr18 56940242 56940242 C G rs536765190 RAX Nonsynonymous SNV R66T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.34 172580 chr3 20043350 20043350 G C rs146520196 PP2D1 Nonsynonymous SNV L88V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.17 172581 chr3 100057993 100057993 G A rs200416332 NIT2 Nonsynonymous SNV A24T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 172582 chr14 24878142 24878142 G T NYNRIN Nonsynonymous SNV W381L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 172583 chr3 138669403 138669403 T C rs750884332 FOXL2NB Nonsynonymous SNV C173R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.35 172584 chr14 24886475 24886475 T A NYNRIN Nonsynonymous SNV N1840K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 172585 chr14 24901658 24901658 G A rs142647127 KHNYN Synonymous SNV G438G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.544 172586 chr19 45316784 45316784 C T rs121918132 BCAM Stop gain R231X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 36 172587 chr14 31771565 31771565 G A rs757309678 HEATR5A Synonymous SNV S1800S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.447 172588 chr19 46206190 46206190 G A rs138046208 QPCTL Synonymous SNV T250T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 172589 chr3 37323500 37323500 G T GOLGA4 Nonsynonymous SNV V72L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.011 172590 chr3 38316915 38316915 G A rs139534576 SLC22A13 Synonymous SNV A287A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.062 172591 chr3 38408343 38408343 C T rs747195525 XYLB Synonymous SNV P47P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.74 172592 chr19 47548712 47548712 G A NPAS1 Nonsynonymous SNV A526T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 172593 chr1 47037201 47037201 A G rs148415392 MKNK1 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 172594 chr3 113045325 113045325 G A rs58191991 CFAP44 Nonsynonymous SNV R1495W 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 28.3 172595 chr3 38946757 38946757 A G SCN11A Nonsynonymous SNV F510S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 172596 chr3 113172548 113172548 T G rs145510382 SPICE1 Nonsynonymous SNV Q636P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.5 172597 chr3 113179485 113179485 T C rs7614751 SPICE1 Nonsynonymous SNV R472G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.327 172598 chr12 95927087 95927087 C T rs7305024 USP44 Nonsynonymous SNV E316K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 172599 chr19 434854 434854 G A rs61745866 SHC2 Nonsynonymous SNV P322L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 172600 chr1 52703288 52703288 C T rs41313248 ZFYVE9 Nonsynonymous SNV P67S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 172601 chr14 60004801 60004805 TTCTT - rs767101611 CCDC175 K520Rfs*7 0 0.003 0 1 0 1 0.003 0 0 0 0 0 172602 chr19 50387559 50387559 C T rs113433758 TBC1D17 Synonymous SNV P359P 0 0 0.007 0 0 0 0 2 0 0 0 0 16.34 172603 chr3 122340396 122340396 G A PARP15 Nonsynonymous SNV S156N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.423 172604 chr19 50947011 50947011 G A MYBPC2 Synonymous SNV V357V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.463 172605 chr14 64408631 64408631 A G rs199648093 SYNE2 Nonsynonymous SNV Q89R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.4 172606 chr1 62672415 62672415 C T rs114926803 L1TD1 Nonsynonymous SNV P39S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.33 172607 chr19 1507392 1507392 C A rs141123035 ADAMTSL5 Nonsynonymous SNV G234V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.86 172608 chr19 51518155 51518155 C G rs138296032 KLK10 Synonymous SNV S244S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 10.61 172609 chr14 64637086 64637086 G A rs200137127 SYNE2 Nonsynonymous SNV R5714H 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Uncertain significance 20.5 172610 chr14 65246467 65246467 G A rs199822834 SPTB Synonymous SNV I1483I 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 13.37 172611 chr14 65253802 65253802 C T rs149316006 SPTB Nonsynonymous SNV V961I 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Likely benign 24 172612 chr19 2226273 2226273 C T rs370977811 DOT1L Synonymous SNV I1251I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 16.9 172613 chr3 126157301 126157301 C T ZXDC Nonsynonymous SNV V832M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 172614 chr3 48620598 48620598 G A rs781055082 COL7A1 Nonsynonymous SNV R1482W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 172615 chr14 69695743 69695743 G A rs142856571 EXD2 Nonsynonymous SNV V57I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.31 172616 chr1 65113503 65113503 A G rs141993788 CACHD1 Synonymous SNV K96K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.39 172617 chr1 65296651 65296651 A T RAVER2 Stop gain K687X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 172618 chr14 75078380 75078380 G A LTBP2 Nonsynonymous SNV P90S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.41 172619 chr3 52457312 52457312 C T rs755473915 PHF7 Synonymous SNV N336N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 172620 chr14 77245291 77245291 C T VASH1 Nonsynonymous SNV P343L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 172621 chr1 85624736 85624736 G - SYDE2 C1095Vfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 172622 chr19 5896968 5896968 C T rs138889960 NDUFA11 Synonymous SNV P46P 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.13 172623 chr1 87025665 87025665 - T rs745822656 CLCA4 Frameshift insertion K74Qfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 172624 chr12 132625406 132625406 C T rs377232805 DDX51 Synonymous SNV S470S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 172625 chr1 8924018 8924018 G A rs146867004 ENO1 Synonymous SNV N240N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.486 172626 chr3 64608153 64608153 C T rs115939195 ADAMTS9 Synonymous SNV E805E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.927 172627 chr1 90473299 90473299 G A ZNF326 Nonsynonymous SNV R113Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 172628 chr1 92181831 92181831 C T rs757151934 TGFBR3 Nonsynonymous SNV V609I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 172629 chr13 24247649 24247649 C T rs528641650 TNFRSF19 Synonymous SNV D326D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.048 172630 chr14 95906095 95906095 C A rs61754461 SYNE3 Nonsynonymous SNV K700N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 31 172631 chr19 56127142 56127142 C G ZNF865 Nonsynonymous SNV Q720E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 172632 chr2 234394489 234394489 T C rs143661480 USP40 Nonsynonymous SNV Y1110C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.12 172633 chr3 9989311 9989311 G A rs761603596 PRRT3 Synonymous SNV L516L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.946 172634 chr3 167345001 167345001 G A rs760553360 WDR49 Nonsynonymous SNV T82M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.651 172635 chr19 57175814 57175814 C G rs201104681 ZNF835 Nonsynonymous SNV E251D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 172636 chr2 235951552 235951552 C T rs769563929 SH3BP4 Synonymous SNV L713L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.36 172637 chr3 44285177 44285177 T C rs751190512 TOPAZ1 Synonymous SNV D393D 0.006 0 0 2 7 0 0.005 0 0 0 0 0 0.005 172638 chr1 3426466 3426466 T G rs940194933 MEGF6 Nonsynonymous SNV Y442S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 172639 chr3 46480817 46480817 T C rs145236642 LTF Synonymous SNV E582E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.004 172640 chr13 46538157 46538157 C T rs145973327 ZC3H13 Nonsynonymous SNV V1499M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 172641 chr13 46543245 46543245 T C rs372508516 ZC3H13 Nonsynonymous SNV N1145S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 172642 chr20 21494145 21494145 C A rs777180442 NKX2-2 Nonsynonymous SNV A55S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 172643 chr2 241974054 241974054 G A rs368976789 SNED1 Nonsynonymous SNV E238K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 172644 chr20 2463941 2463941 G A rs143248617 ZNF343 Stop gain R466X 0.011 0.01 0 2 13 4 0.005 0 0 0 0 0 35 172645 chr3 185191253 185191253 G A rs56309231 MAP3K13 Nonsynonymous SNV E505K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.65 172646 chr1 39457121 39457121 G T AKIRIN1 Synonymous SNV P23P 0 0 0 2 0 0 0.005 0 0 0 0 0 12.62 172647 chr2 242757881 242757881 C T rs773017188 NEU4 Nonsynonymous SNV A334V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.744 172648 chr19 6924727 6924727 T C rs141864552 ADGRE1 Synonymous SNV I469I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.432 172649 chr3 186503839 186503839 T G EIF4A2 Synonymous SNV L172L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.947 172650 chr3 186953826 186953826 C T MASP1 Synonymous SNV R611R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.967 172651 chr13 77718581 77718581 G A rs752407102 MYCBP2 Synonymous SNV I2434I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 172652 chr13 101321008 101321008 G A rs781550852 TMTC4 Nonsynonymous SNV P15L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.353 172653 chr20 34116969 34116969 C T rs184515483 C20orf173 Synonymous SNV A78A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 172654 chr20 35443554 35443554 G A rs202240154 SOGA1 Nonsynonymous SNV A764V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 172655 chr19 11556283 11556283 C T rs539988285 PRKCSH Synonymous SNV D226D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.11 172656 chr20 37146462 37146462 G A rs760979395 RALGAPB Synonymous SNV Q412Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.69 172657 chr19 8997530 8997530 C A rs190493944 MUC16 Nonsynonymous SNV S13631I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.653 172658 chr2 29386727 29386727 C G rs138421018 CLIP4 Nonsynonymous SNV P522R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.7 172659 chr19 12126768 12126768 G A rs531245550 ZNF433 Nonsynonymous SNV T305M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 172660 chr2 3197801 3197801 G T rs201360549 EIPR1 Nonsynonymous SNV P120T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.9 172661 chr1 49201983 49201983 C T rs148822442 BEND5 Nonsynonymous SNV V177I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 172662 chr1 49208365 49208365 T G BEND5 Nonsynonymous SNV E106A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 172663 chr13 114783665 114783665 C T RASA3 Nonsynonymous SNV V304I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.488 172664 chr3 32995397 32995397 A G CCR4 Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 172665 chr2 3729251 3729251 G T rs183345834 ALLC Nonsynonymous SNV G109V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.13 172666 chr15 43818597 43818597 G C rs372656438 MAP1A Nonsynonymous SNV R1642S 0 0.005 0 0 0 2 0 0 0 0 0 0 15.72 172667 chr3 33467172 33467172 T C rs935460153 UBP1 Nonsynonymous SNV T59A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.751 172668 chr15 45399034 45399034 G C DUOX2 Synonymous SNV P609P 0 0.005 0 0 0 2 0 0 0 0 0 0 5.54 172669 chr20 46365477 46365477 C T rs774832820 SULF2 Nonsynonymous SNV V129M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 172670 chr2 45236123 45236123 G A rs142188105 SIX2 Nonsynonymous SNV L43F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 172671 chr2 45826596 45826596 T C rs202019469 SRBD1 Nonsynonymous SNV M214V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.545 172672 chr2 47287925 47287925 C A rs140166160 TTC7A Nonsynonymous SNV Q370K 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Benign/Likely benign 16.59 172673 chr19 9677428 9677428 A G rs144655023 ZNF121 Nonsynonymous SNV C121R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.87 172674 chr15 50836810 50836810 G A rs374263114 USP50 Synonymous SNV T74T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.222 172675 chr20 48522656 48522670 GCCGCAGAGCATCCT - SPATA2 Q350_R354del 0.003 0 0 0 3 0 0 0 0 0 0 0 172676 chr15 51014332 51014332 G A SPPL2A Nonsynonymous SNV S439L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 172677 chr15 51250834 51250834 C T rs142762839 AP4E1 Nonsynonymous SNV A490V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.3 172678 chr1 100515511 100515511 T A MFSD14A Nonsynonymous SNV I44N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 172679 chr14 21838053 21838053 T A rs45500696 SUPT16H Synonymous SNV I162I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 17.4 172680 chr15 52564825 52564825 T C rs375461746 MYO5C Synonymous SNV G234G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.439 172681 chr4 184932240 184932240 C A rs567574623 STOX2 Nonsynonymous SNV A750E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.712 172682 chr19 16974541 16974541 G A rs12461731 SIN3B Synonymous SNV T29T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.68 172683 chr14 23371261 23371261 - GGT RBM23 A357_A358insT 0.001 0 0 0 1 0 0 0 0 0 0 0 172684 chr14 23371262 23371262 G A rs375768100 RBM23 Synonymous SNV A357A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.496 172685 chr1 107600388 107600388 C T PRMT6 Nonsynonymous SNV R351C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 172686 chr14 23511525 23511525 C T rs779537117 PSMB11 Nonsynonymous SNV R31W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 172687 chr4 186361827 186361827 A G rs183742887 C4orf47 Nonsynonymous SNV K97R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.151 172688 chr14 23863415 23863415 C T rs770629886 MYH6 Synonymous SNV K849K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.24 172689 chr14 24737962 24737962 G A RABGGTA Nonsynonymous SNV P290L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 172690 chr14 24780504 24780504 C T rs760236875 LTB4R2 Nonsynonymous SNV R212C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 172691 chr14 24785860 24785860 G C LTB4R Nonsynonymous SNV G335R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 172692 chr14 24886204 24886204 C T NYNRIN Nonsynonymous SNV A1750V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.77 172693 chr2 70900420 70900420 C T rs4983 ADD2 Nonsynonymous SNV V594M 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.324 172694 chr19 18474358 18474358 T C rs763429217 PGPEP1 Nonsynonymous SNV S122P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.09 172695 chr15 66621726 66621726 A G rs768591060 DIS3L Nonsynonymous SNV N716D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.88 172696 chr2 73478503 73478503 C T rs929534575 CCT7 Synonymous SNV D247D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.16 172697 chr1 85039998 85039998 - GCAGCGCCA rs758471823 CTBS L33_R34insLAL 0.002 0 0 1 2 0 0.003 0 0 0 0 0 172698 chr15 69689728 69689728 G A rs766784296 LOC145694 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 2.28 172699 chr20 61444244 61444244 C T rs140358759 OGFR Nonsynonymous SNV T426M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.898 172700 chr2 74042974 74042974 G A rs146758692 C2orf78 Nonsynonymous SNV A542T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.124 172701 chr1 11849446 11849446 C T rs1045085128 C1orf167 Synonymous SNV A1431A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.393 172702 chr2 80874727 80874727 G A rs773638488 CTNNA2 Synonymous SNV S495S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.426 172703 chr19 33119742 33119742 C T rs150101296 ANKRD27 Nonsynonymous SNV G408D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.8 172704 chr19 33167549 33167549 G C RGS9BP Nonsynonymous SNV R127P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 172705 chr4 126238694 126238694 G A rs202216461 FAT4 Synonymous SNV V376V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.643 172706 chr2 8871914 8871914 T C rs763663946 KIDINS220 Nonsynonymous SNV M1362V 0 0.005 0 0 0 2 0 0 0 0 0 0 3.355 172707 chr1 145539772 145539772 G T rs368075130 ITGA10 Synonymous SNV L925L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 172708 chr2 8890333 8890333 T C rs145408226 KIDINS220 Nonsynonymous SNV N1109S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 3.078 172709 chr3 52825910 52825910 G A rs200550859 ITIH1 Nonsynonymous SNV V619I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.378 172710 chr4 1346962 1346962 C T rs778183745 UVSSA Nonsynonymous SNV A232V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.783 172711 chr2 95843279 95843279 A G rs760726660 ZNF2 Nonsynonymous SNV S29G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 172712 chr3 53854567 53854567 G A CHDH Nonsynonymous SNV L352F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 172713 chr19 36279286 36279286 C T rs763018405 ARHGAP33 Synonymous SNV P1109P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.906 172714 chr3 100100601 100100601 C T rs770953215 TOMM70 Nonsynonymous SNV E248K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.22 172715 chr15 85189435 85189435 C T rs201121107 WDR73 Nonsynonymous SNV R166Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.131 172716 chr4 5990538 5990538 C T rs747095242 C4orf50 Nonsynonymous SNV E900K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.3 172717 chr3 101572544 101572544 T G rs200989995 NFKBIZ Nonsynonymous SNV S392A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.001 172718 chr3 7188188 7188188 G A rs144324520 GRM7 Nonsynonymous SNV R190Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 172719 chr1 153741377 153741377 T C rs372522734 INTS3 Synonymous SNV D751D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.607 172720 chr4 162421268 162421268 A G rs141999351 FSTL5 Nonsynonymous SNV M443T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 172721 chr3 97594185 97594185 C G rs75843914 CRYBG3 Nonsynonymous SNV L1383V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.144 172722 chr19 38610313 38610313 G A rs151167786 SIPA1L3 Nonsynonymous SNV D887N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.6 172723 chr1 155151048 155151048 G C rs150155187 TRIM46 Nonsynonymous SNV G289A 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 8.761 172724 chr3 98251487 98251487 T A rs150286171 GPR15 Nonsynonymous SNV F204I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 172725 chr14 76437523 76437523 C T rs778797205 TGFB3 Nonsynonymous SNV E198K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 172726 chr19 39322002 39322002 A T rs751868012 ECH1 Nonsynonymous SNV H69Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 172727 chr4 7435911 7435911 A G rs918742341 PSAPL1 Synonymous SNV F232F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.001 172728 chr1 156517999 156517999 G T IQGAP3 Nonsynonymous SNV Q724K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 172729 chr4 175898399 175898399 C T ADAM29 Nonsynonymous SNV R575C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.8 172730 chr15 91454412 91454412 C G MAN2A2 Synonymous SNV R629R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.67 172731 chr14 78710050 78710050 G A rs780219523 NRXN3 Nonsynonymous SNV R205H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 172732 chr4 1824832 1824832 G A rs141666504 LETM1 Synonymous SNV A453A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.71 172733 chr4 104074307 104074307 A G CENPE Nonsynonymous SNV I1020T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 172734 chr1 156876079 156876079 C T rs979903321 PEAR1 Stop gain Q107X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 172735 chr15 100252715 100252715 - CAG MEF2A Q352_P353insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 172736 chr3 122259328 122259328 G A rs757344516 PARP9 Nonsynonymous SNV R621C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.04 172737 chr14 91700312 91700312 C G rs375020389 GPR68 Synonymous SNV T361T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.255 172738 chr19 41183324 41183324 G A rs142919732 NUMBL Synonymous SNV G140G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.86 172739 chr19 41198081 41198081 G T rs760132974 COQ8B Synonymous SNV A457A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.246 172740 chr19 41198082 41198082 G T rs776334399 COQ8B Nonsynonymous SNV A457D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 172741 chr21 45732101 45732101 C T rs138419786 PFKL Synonymous SNV G117G 0.005 0 0.003 0 6 0 0 1 0 0 0 0 10.72 172742 chr14 93649990 93649990 C T rs35855685 MOAP1 Nonsynonymous SNV V200I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.84 172743 chr20 31643275 31643275 G A BPIFB3 Nonsynonymous SNV G16S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.2 172744 chr19 42406063 42406063 G T ARHGEF1 Nonsynonymous SNV V399L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 172745 chr19 42569453 42569453 C T rs761680860 GRIK5 Nonsynonymous SNV E56K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 172746 chr20 31890859 31890859 C T rs76158089 BPIFB1 Synonymous SNV R373R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.66 172747 chr3 126916194 126916194 G A rs373508309 C3orf56 Synonymous SNV P222P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.874 172748 chr3 127682078 127682078 C A KBTBD12 Stop gain C513X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 172749 chr3 127980986 127980986 G A rs116353475 EEFSEC Synonymous SNV P180P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.688 172750 chr20 33337494 33337494 G A NCOA6 Nonsynonymous SNV A835V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.95 172751 chr19 44116627 44116627 C G rs760593665 SRRM5 Nonsynonymous SNV H118Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.665 172752 chr4 24534610 24534610 A G DHX15 Synonymous SNV N659N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.774 172753 chr1 1687709 1687709 G A rs202094242 NADK Synonymous SNV S159S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.478 172754 chr3 129695893 129695893 C T rs35004321 TRH Nonsynonymous SNV P188L 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 Benign 25.5 172755 chr1 169953815 169953815 A C rs116755924 KIFAP3 Nonsynonymous SNV F390C 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 27.8 172756 chr4 3449881 3449881 C T rs375519640 HGFAC Nonsynonymous SNV R555W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 33 172757 chr3 130672718 130672718 T C rs2760272 ATP2C1 Synonymous SNV C190C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.521 172758 chr14 104573218 104573218 C T rs746354566 ASPG Nonsynonymous SNV A419V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.156 172759 chr20 44596140 44596140 G A ZNF335 Synonymous SNV D316D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.869 172760 chr4 153881747 153881747 G A rs112421953 FHDC1 Nonsynonymous SNV V232M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 172761 chr19 46522563 46522563 C T rs748174881 PGLYRP1 Nonsynonymous SNV R175H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.9 172762 chr3 139280065 139280065 T C rs746645549 NMNAT3 Synonymous SNV L93L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.093 172763 chr19 47575290 47575290 C T ZC3H4 Nonsynonymous SNV D631N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.38 172764 chr22 24447370 24447370 G A rs560025941 CABIN1 Nonsynonymous SNV R247K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 172765 chr22 24562832 24562832 G A rs553260901 CABIN1 Nonsynonymous SNV G1695R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 172766 chr19 47778548 47778548 G T rs904289124 INAFM1 Synonymous SNV P124P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.561 172767 chr15 28424100 28424100 C T rs9806328 HERC2 Synonymous SNV T3032T 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 17.81 172768 chr15 28493737 28493737 A G rs78460234 HERC2 Nonsynonymous SNV Y1066H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 23.6 172769 chr3 148459839 148459839 C T rs138545856 AGTR1 Synonymous SNV Y339Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.755 172770 chr4 164054373 164054373 T G rs146474502 NAF1 Nonsynonymous SNV E322D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 172771 chr1 184688315 184688315 T C EDEM3 Nonsynonymous SNV K381R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 172772 chr1 1857306 1857306 C T rs137862830 CFAP74 Synonymous SNV A1340A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 172773 chr22 27012128 27012128 C T rs149902597 CRYBB1 Synonymous SNV A52A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 12.28 172774 chr3 153943783 153943783 A G rs971954780 ARHGEF26 Nonsynonymous SNV I692V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 172775 chr20 60791512 60791512 C G HRH3 Synonymous SNV G296G 0 0 0 3 0 0 0.008 0 0 0 0 0 0.656 172776 chr22 30640917 30640917 C T LIF Nonsynonymous SNV V9M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 172777 chr16 11846636 11846636 C T ZC3H7A Stop gain W872X 0 0.003 0 0 0 1 0 0 0 0 0 0 49 172778 chr16 14702979 14702979 C G PARN Nonsynonymous SNV E140Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 172779 chr22 31285190 31285190 C G rs35702187 OSBP2 Nonsynonymous SNV T26R 0.004 0 0 0 5 0 0 0 0 0 0 0 0.498 172780 chr4 183601761 183601761 G A rs184821810 TENM3 Nonsynonymous SNV G569S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 32 172781 chr15 41227261 41227261 G A rs369687487 DLL4 Nonsynonymous SNV G396S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 172782 chr20 61461921 61461921 G A rs367582511 COL9A3 Nonsynonymous SNV R423Q 0 0 0 3 0 0 0.008 0 0 0 0 0 25.7 172783 chr22 31662010 31662010 C T rs2229875 LIMK2 Synonymous SNV R290R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.61 172784 chr19 50905607 50905607 G A rs745841154 POLD1 Synonymous SNV E245E 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.366 172785 chr1 20141126 20141126 C T rs41264109 RNF186 Nonsynonymous SNV A157T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 24.2 172786 chr22 36716327 36716327 T C rs769409234 MYH9 Nonsynonymous SNV D317G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 172787 chr16 23387127 23387127 A G rs2303156 SCNN1B Synonymous SNV P407P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.056 172788 chr1 204913467 204913467 C G rs756770346 NFASC Synonymous SNV P8P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.33 172789 chr20 62729814 62729814 C T rs148484121 OPRL1 Nonsynonymous SNV R254W 0 0.003 0 3 0 1 0.008 0 0 0 0 0 33 172790 chr4 22390174 22390174 C T rs12700 ADGRA3 Synonymous SNV A1040A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 10.99 172791 chr4 22446716 22446716 G C rs376148471 ADGRA3 Nonsynonymous SNV L196V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.075 172792 chr1 205819191 205819191 G T rs748596521 PM20D1 Synonymous SNV R4R 0 0 0.007 0 0 0 0 2 0 0 0 0 9.706 172793 chr4 24557937 24557937 T C rs148862721 DHX15 Synonymous SNV T266T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.198 172794 chr19 52090505 52090505 T C rs771720314 ZNF175 Synonymous SNV H307H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 172795 chr21 16339142 16339142 C T rs759682911 NRIP1 Nonsynonymous SNV V458I 0 0 0 3 0 0 0.008 0 0 0 0 0 10.83 172796 chr5 149510137 149510137 C G PDGFRB Synonymous SNV P380P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.34 172797 chr15 48726813 48726813 G A rs111844882 FBN1 Synonymous SNV P2198P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign/Likely benign 13.53 172798 chr4 8293244 8293244 C A rs772150262 HTRA3 Nonsynonymous SNV L286I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 172799 chr15 48757802 48757802 G C rs113115949 FBN1 Synonymous SNV T1635T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign/Likely benign 6.478 172800 chr22 40658056 40658056 A G rs373838599 TNRC6B Synonymous SNV P112P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.24 172801 chr15 48800870 48800870 G A rs112366266 FBN1 Synonymous SNV C582C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign/Likely benign 11.09 172802 chr1 209797298 209797298 G A rs372853075 LAMB3 Nonsynonymous SNV T675M 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 11.12 172803 chr1 209823424 209823424 C T rs139480015 LAMB3 Nonsynonymous SNV R23H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.8 172804 chr1 211544785 211544785 C G rs2230780 TRAF5 Nonsynonymous SNV L358V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 172805 chr16 31121641 31121641 T C rs200382141 BCKDK Nonsynonymous SNV I180T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.41 172806 chr16 31228348 31228348 A - rs779403119 PYDC1 Star tloss M1? 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 172807 chr16 48286129 48286129 T - LONP2 F108Sfs*7 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 172808 chr3 194180616 194180616 T C rs201046053 ATP13A3 Nonsynonymous SNV N104D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 172809 chr22 44371977 44371977 G A rs775334315 SAMM50 Nonsynonymous SNV V231I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 172810 chr1 216496932 216496932 C G rs35730265 USH2A Nonsynonymous SNV E478D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 172811 chr22 46658653 46658653 C T rs150986542 PKDREJ Synonymous SNV A189A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.68 172812 chr3 21462738 21462738 C A rs757067821 ZNF385D Nonsynonymous SNV A386S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.32 172813 chr15 66206227 66206227 G T rs779135172 MEGF11 Nonsynonymous SNV T853K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 172814 chr5 108714331 108714331 G C PJA2 Nonsynonymous SNV A286G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.111 172815 chr15 67073679 67073679 G A rs373836386 SMAD6 Nonsynonymous SNV G433S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 172816 chr5 173416375 173416375 G A rs376415933 C5orf47 Nonsynonymous SNV A37T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 172817 chr21 43708164 43708164 G A rs376798940 ABCG1 Nonsynonymous SNV R380Q 0 0 0 2 0 0 0.005 0 0 0 0 0 16.82 172818 chr15 68583435 68583435 G A FEM1B Nonsynonymous SNV S580N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 172819 chr16 67865200 67865200 C T rs774727424 CENPT Nonsynonymous SNV A208T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.9 172820 chr22 50470291 50470291 C T rs201717173 TTLL8 Nonsynonymous SNV D527N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 172821 chr16 69727219 69727219 C G NFAT5 Nonsynonymous SNV P939R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 172822 chr22 50751882 50751882 G A rs777347589 DENND6B Nonsynonymous SNV P447L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 172823 chr15 74472504 74472504 G C STRA6 Nonsynonymous SNV L641V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.01 172824 chr22 50987360 50987360 A G rs772381870 KLHDC7B Synonymous SNV G896G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.279 172825 chr4 6303804 6303804 C T rs71526459 WFS1 Nonsynonymous SNV A761V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 172826 chr15 75660914 75660914 G A rs370555978 MAN2C1 Nonsynonymous SNV A4V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.39 172827 chr19 56126505 56126505 G C ZNF865 Synonymous SNV A507A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 172828 chr2 102486794 102486794 G A rs767343379 MAP4K4 Nonsynonymous SNV V812M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 172829 chr15 79350810 79350810 C T rs140019990 RASGRF1 Nonsynonymous SNV A133T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 172830 chr16 77232085 77232085 C T MON1B Synonymous SNV L362L 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 14.26 172831 chr3 42685488 42685488 C T rs754823076 NKTR Nonsynonymous SNV R1433W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 172832 chr1 231004214 231004214 G A C1orf198 Synonymous SNV V15V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 172833 chr2 102992441 102992441 G T rs201270046 IL18R1 Synonymous SNV G26G 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.139 172834 chr1 231557094 231557094 G A EGLN1 Nonsynonymous SNV P181S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 172835 chr1 232579352 232579352 C T rs749378253 SIPA1L2 Nonsynonymous SNV D1145N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 172836 chr5 35065328 35065328 C G rs146459777 PRLR Nonsynonymous SNV E477Q 0.003 0.013 0 1 4 5 0.003 0 0 0 0 0 21.8 172837 chr2 113074163 113074163 - GTAA ZC3H6 Frameshift insertion G289Vfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 172838 chr1 240071903 240071903 C T rs139780487 CHRM3 Synonymous SNV P384P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.33 172839 chr3 45977973 45977973 G A rs4356851 FYCO1 Nonsynonymous SNV S1336L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 172840 chr4 77201440 77201440 C A rs758671265 FAM47E Nonsynonymous SNV H350Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 172841 chr3 46399261 46399261 G C rs762527291 CCR2 Synonymous SNV L81L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.089 172842 chr16 85715227 85715227 C G GINS2 Nonsynonymous SNV S89T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 172843 chr5 52344543 52344543 A G rs190131248 ITGA2 Synonymous SNV V191V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.235 172844 chr5 140720250 140720250 G A PCDHGA2 Nonsynonymous SNV G571D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.3 172845 chr2 133489611 133489611 C T NCKAP5 Synonymous SNV Q395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 172846 chr22 26849289 26849289 G C rs370493873 HPS4 Nonsynonymous SNV L599V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 172847 chr15 91433192 91433192 G A rs772816067 FES Nonsynonymous SNV R292Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 172848 chr22 29538006 29538006 T G KREMEN1 Nonsynonymous SNV I428S 0 0 0 2 0 0 0.005 0 0 0 0 0 32 172849 chr2 141079594 141079594 G C rs754709111 LRP1B Nonsynonymous SNV T4193S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 172850 chr5 147261123 147261123 G A rs140599638 SCGB3A2 Nonsynonymous SNV G57D 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 172851 chr4 90856354 90856354 A C rs776611812 MMRN1 Nonsynonymous SNV K508T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.554 172852 chr2 152285315 152285315 G A rs142152071 RIF1 Synonymous SNV G268G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 172853 chr2 152320892 152320892 G A rs61748231 RIF1 Nonsynonymous SNV E1620K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.87 172854 chr4 95220797 95220797 T C rs750306189 HPGDS 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.9 172855 chr22 31685654 31685654 C A rs148357191 PIK3IP1 Synonymous SNV T113T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.17 172856 chr3 58080583 58080583 A G rs145036794 FLNB Nonsynonymous SNV M270V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 11.37 172857 chr4 996675 996675 C A rs532731688 IDUA Nonsynonymous SNV H317N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.14 172858 chr5 149749135 149749135 C T rs753298747 TCOF1 Synonymous SNV T203T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.66 172859 chr16 325035 325035 G A rs190686593 RGS11 Nonsynonymous SNV P87S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.69 172860 chr5 74403345 74403345 C T ANKRD31 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 172861 chr16 338189 338189 C T rs34015754 AXIN1 Nonsynonymous SNV R805Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 24.1 172862 chr3 63996616 63996616 A G rs149641442 PSMD6 Synonymous SNV F299F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 2.216 172863 chr3 64004515 64004515 T G rs140929676 PSMD6 Nonsynonymous SNV E194D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.14 172864 chr5 110438045 110438045 A G rs762142269 WDR36 Nonsynonymous SNV K238E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 172865 chr1 28792276 28792276 A C rs201093319 PHACTR4 Nonsynonymous SNV S128R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 172866 chr20 16360309 16360309 G A rs147795685 KIF16B Nonsynonymous SNV R780W 0 0 0 1 0 0 0.003 0 0 0 0 0 9.514 172867 chr1 32157065 32157065 G C rs199979082 COL16A1 Nonsynonymous SNV P451A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.623 172868 chr1 32163574 32163574 C T rs192400804 COL16A1 Nonsynonymous SNV R197Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 172869 chr17 3427535 3427535 C T rs199905369 TRPV3 Nonsynonymous SNV R567Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 33 172870 chr1 33236046 33236046 C T rs77942409 KIAA1522 Synonymous SNV S363S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 172871 chr1 33292014 33292014 G A rs79708363 S100PBP Nonsynonymous SNV G105E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.427 172872 chr1 33558992 33558992 C A rs80137217 AZIN2 Nonsynonymous SNV H93N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 19.11 172873 chr17 56352929 56352929 G T MPO Synonymous SNV R447R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 172874 chr20 21377083 21377083 G A rs199747643 NKX2-4 Synonymous SNV G177G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.112 172875 chr20 21377798 21377798 C T rs572732400 NKX2-4 Synonymous SNV A80A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.81 172876 chr5 127782297 127782297 C T rs146849637 FBN2 Nonsynonymous SNV V277I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 19.08 172877 chr5 128301916 128301916 A G rs145525779 SLC27A6 Nonsynonymous SNV D29G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.271 172878 chr1 34677831 34677831 G T rs775292187 C1orf94 Nonsynonymous SNV Q515H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 172879 chr1 34684332 34684332 T A rs754299629 C1orf94 Nonsynonymous SNV F589L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 172880 chr17 4445778 4445778 G A rs370201351 MYBBP1A Nonsynonymous SNV P1023L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 172881 chr1 36381038 36381038 C G rs148568098 AGO1 Synonymous SNV S566S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.87 172882 chr5 132545898 132545898 G A FSTL4 Synonymous SNV S567S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.05 172883 chr5 133481466 133481466 T C rs182000264 TCF7 Synonymous SNV N255N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.992 172884 chr1 36921812 36921812 C T rs143704525 MRPS15 Synonymous SNV V204V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.85 172885 chr16 1616239 1616239 T C rs35433680 IFT140 Synonymous SNV T608T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.133 172886 chr20 30605643 30605643 C T rs767667534 CCM2L Nonsynonymous SNV P80L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 172887 chr5 94114848 94114848 C T MCTP1 Synonymous SNV E552E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 172888 chr4 106156953 106156953 A G rs138665881 TET2 Synonymous SNV Q618Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 172889 chr5 13751347 13751347 A G DNAH5 Nonsynonymous SNV V3684A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 172890 chr20 34611622 34611622 A G CNBD2 Nonsynonymous SNV I456M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.38 172891 chr20 35724311 35724311 G T RBL1 Nonsynonymous SNV H7Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.254 172892 chr20 36859722 36859722 G A rs199854032 KIAA1755 Nonsynonymous SNV R585W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 172893 chr6 10557397 10557397 G A rs200874437 GCNT2 Synonymous SNV A247A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.011 172894 chr20 43945332 43945332 G A RBPJL Nonsynonymous SNV A433T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 172895 chr16 3358542 3358542 A C rs753445879 ZNF75A Nonsynonymous SNV Q38H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.709 172896 chr4 123856931 123856931 G A rs759837923 SPATA5 Nonsynonymous SNV A403T 0 0.005 0 0 0 2 0 0 0 0 0 0 27.3 172897 chr4 123856975 123856975 T C SPATA5 Synonymous SNV I417I 0 0.005 0 0 0 2 0 0 0 0 0 0 6.648 172898 chr6 117631429 117631429 T C rs778009137 ROS1 Synonymous SNV R2083R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.99 172899 chr6 117686261 117686261 C T rs149513638 ROS1 Nonsynonymous SNV G1027D 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Likely benign 31 172900 chr5 145529188 145529188 G A rs139648263 LARS1 Synonymous SNV D454D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.36 172901 chr16 7383042 7383042 G C RBFOX1 Nonsynonymous SNV V14L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.503 172902 chr2 207613814 207613814 G A rs189208827 MDH1B Synonymous SNV A284A 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 12.12 172903 chr6 131915355 131915355 G A rs376944115 MED23 Nonsynonymous SNV P1039L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 172904 chr6 132909838 132909838 G A rs35839363 TAAR5 Nonsynonymous SNV R330C 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 16.69 172905 chr20 57766356 57766356 G A rs7264193 ZNF831 Synonymous SNV V94V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.18 172906 chr20 57767960 57767960 A G rs61743782 ZNF831 Nonsynonymous SNV K629R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 10.55 172907 chr20 57768531 57768531 C T rs57571629 ZNF831 Synonymous SNV P819P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 7.205 172908 chr6 133047904 133047904 - T rs759327037 VNN3 Frameshift insertion N4Kfs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 172909 chr6 133079002 133079002 T G VNN2 Synonymous SNV P7P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.306 172910 chr1 60499237 60499237 T C C1orf87 Nonsynonymous SNV T314A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.001 172911 chr5 149580666 149580666 G A rs137988576 SLC6A7 Synonymous SNV T246T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.22 172912 chr6 136709598 136709598 T C rs143489915 MAP7 Synonymous SNV P175P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.483 172913 chr2 211018702 211018702 G A rs148825055 KANSL1L Nonsynonymous SNV P202L 0.009 0.005 0 3 10 2 0.008 0 0 0 0 0 15.39 172914 chr2 211179654 211179654 A G MYL1 Nonsynonymous SNV I38T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 172915 chr2 21360724 21360724 A C rs17399768 TDRD15 Nonsynonymous SNV I129L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 172916 chr1 64643278 64643278 G A rs80063252 ROR1 Synonymous SNV T518T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.26 172917 chr2 216983799 216983799 A G rs80243955 XRCC5 Nonsynonymous SNV I134M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.01 172918 chr2 128525783 128525787 ACTTT - WDR33 K119Sfs*6 0 0 0 2 0 0 0.005 0 0 0 0 0 172919 chr2 217300097 217300097 T A SMARCAL1 Nonsynonymous SNV C508S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 172920 chr5 156381625 156381625 C T rs139174444 TIMD4 Synonymous SNV A67A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 172921 chr20 62172856 62172856 T A SRMS Nonsynonymous SNV N355I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 172922 chr1 70385568 70385568 C T rs868769518 PIN1P1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.415 172923 chr4 17887717 17887717 A T LCORL Nonsynonymous SNV D250E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 6.526 172924 chr2 219556883 219556883 C T rs754497139 STK36 Synonymous SNV C594C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 172925 chr16 27761416 27761416 G A rs749156837 KIAA0556 Nonsynonymous SNV M1045I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 172926 chr2 219754981 219754981 A G rs373991357 WNT10A Nonsynonymous SNV M218V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.52 172927 chr2 219846534 219846534 C A FEV Nonsynonymous SNV G191V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 172928 chr1 76262714 76262714 C T rs759176463 MSH4 Nonsynonymous SNV A15V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 172929 chr20 62340221 62340221 C G rs374989957 ZGPAT Nonsynonymous SNV R97G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 172930 chr2 220100258 220100258 G A rs189875478 ANKZF1 Nonsynonymous SNV R375Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 172931 chr4 186253773 186253773 G T rs769042633 SNX25 Stop gain E428X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 172932 chr5 16702670 16702670 G A rs185964842 MYO10 Synonymous SNV A846A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.4 172933 chr16 29937172 29937172 T A rs773303300 KCTD13 Synonymous SNV G61G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.39 172934 chr1 86340999 86340999 A C rs138697961 COL24A1 Synonymous SNV T315T 0 0 0.01 0 0 0 0 3 0 0 0 0 2.515 172935 chr16 30616182 30616182 C T rs115548743 ZNF689 Synonymous SNV T302T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.82 172936 chr2 220412379 220412379 C T TMEM198 Synonymous SNV C106C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 172937 chr2 220413900 220413900 G A rs201921356 TMEM198 Nonsynonymous SNV V257M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 172938 chr21 26976181 26976181 T A MRPL39 Nonsynonymous SNV Y116F 0 0 0 1 0 0 0.003 0 0 0 0 0 26 172939 chr16 31091744 31091744 G A rs141578783 ZNF646 Nonsynonymous SNV A1367T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 172940 chr21 27117542 27117542 G A rs61734758 GABPA Synonymous SNV A33A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.945 172941 chr2 152528984 152528984 C T rs113174390 NEB Nonsynonymous SNV A1400T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.505 172942 chr5 173018 173018 T C rs376303514 PLEKHG4B Synonymous SNV L1353L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 172943 chr16 31121631 31121631 C T rs774302251 BCKDK Nonsynonymous SNV R177W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 34 172944 chr1 89486277 89486277 A G rs991500788 GBP3 Nonsynonymous SNV I43T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 172945 chr2 157185969 157185969 G C NR4A2 Nonsynonymous SNV L244V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.68 172946 chr5 176304920 176304920 C T rs200322532 UNC5A Nonsynonymous SNV A554V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 172947 chr17 31082588 31082588 G A rs78747314 MYO1D Synonymous SNV V463V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 13.53 172948 chr2 225906970 225906970 C T rs938780738 DOCK10 Nonsynonymous SNV R41Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 172949 chr1 900504 900504 T C rs774158763 KLHL17 Nonsynonymous SNV V621A 0 0 0.007 0 0 0 0 2 0 0 0 0 23 172950 chr21 31965058 31965058 C T rs370061319 KRTAP6-3 Synonymous SNV C98C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.01 172951 chr2 162359894 162359894 - CATCCAA AHCTF1P1 0.002 0 0 3 2 0 0.008 0 0 0 0 0 172952 chr1 9322383 9322383 C T rs76029483 H6PD Synonymous SNV F348F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 17.92 172953 chr4 38690657 38690657 C T rs547830183 KLF3 Nonsynonymous SNV S170L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 172954 chr2 232389790 232389790 A G NMUR1 Synonymous SNV D415D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.15 172955 chr2 233322286 233322286 C T rs139371546 ALPI Synonymous SNV G220G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.575 172956 chr16 57690435 57690435 C T rs142015112 ADGRG1 Nonsynonymous SNV P363L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.58 172957 chr5 94025232 94025234 AGA - rs745895625 SLF1 E781del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 172958 chr1 98015269 98015269 G A rs57918000 DPYD Synonymous SNV N457N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.283 172959 chr21 41725475 41725475 C T rs140655651 DSCAM Nonsynonymous SNV R284H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 172960 chr5 31526945 31526945 G A rs202053700 DROSHA Nonsynonymous SNV P32L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 172961 chr2 235951368 235951368 C T rs199852468 SH3BP4 Nonsynonymous SNV P652L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 172962 chr6 27115131 27115131 A G rs767992504 H2AC12 Nonsynonymous SNV K75R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 172963 chr4 54966798 54966798 C T rs768253284 GSX2 Nonsynonymous SNV A96V 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 8.058 172964 chr6 109802874 109802874 T C rs774995879 ZBTB24 Nonsynonymous SNV Y119C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 22.6 172965 chr6 110768155 110768155 C T rs138745115 SLC22A16 Nonsynonymous SNV S191N 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 7.772 172966 chr4 5630327 5630327 G A rs112747818 EVC2 Synonymous SNV T535T 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 13.81 172967 chr2 241465653 241465653 G A rs201252509 ANKMY1 Nonsynonymous SNV A299V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 172968 chr20 23472459 23472459 C T rs35190670 CST8 Nonsynonymous SNV A52V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 28.6 172969 chr5 41917276 41917276 C T rs776627931 C5orf51 Stop gain R254X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 172970 chr20 25290190 25290190 G A rs148799594 ABHD12 Nonsynonymous SNV T214M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 172971 chr2 179584500 179584500 C T TTN Nonsynonymous SNV A6663T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.88 172972 chr2 179612758 179612758 T C TTN Nonsynonymous SNV E4790G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.53 172973 chr2 24247119 24247119 T C rs574859401 MFSD2B Nonsynonymous SNV S490P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.86 172974 chr20 30359429 30359429 A G rs58399677 TPX2 Synonymous SNV A184A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 8.153 172975 chr2 24260741 24260741 A G rs140144798 WDCP Synonymous SNV L542L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.742 172976 chr21 47421963 47421963 G A rs148962954 COL6A1 Nonsynonymous SNV R682Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.91 172977 chr20 31022765 31022765 C T rs35712951 ASXL1 Synonymous SNV P689P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.46 172978 chr4 68384017 68384017 A G rs758115511 CENPC Synonymous SNV D229D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.141 172979 chr20 31389229 31389229 G A rs143847495 DNMT3B Synonymous SNV L618L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.72 172980 chr5 56176583 56176583 A G rs774048753 MAP3K1 Synonymous SNV K711K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.098 172981 chr22 17472816 17472816 T G rs1016471985 GAB4 Nonsynonymous SNV E142A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.2 172982 chr5 64868102 64868102 G A PPWD1 Nonsynonymous SNV E164K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 172983 chr2 26703827 26703827 G A rs139954767 OTOF Nonsynonymous SNV R544C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 172984 chr4 74365790 74365790 T A rs138149027 AFM Nonsynonymous SNV C498S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 28.4 172985 chr6 39836693 39836693 A G rs769452736 DAAM2 Nonsynonymous SNV N286S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.86 172986 chr20 35177554 35177554 G A rs369585316 MYL9 Nonsynonymous SNV E87K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 172987 chr2 27015633 27015633 A T CENPA Nonsynonymous SNV I74L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 172988 chr20 36531795 36531795 C T VSTM2L Synonymous SNV L15L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 172989 chr2 18768345 18768345 G A NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV T72I 0 0 0 2 0 0 0.005 0 0 0 0 0 23 172990 chr6 41248852 41248852 T C TREM1 Nonsynonymous SNV Q149R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 172991 chr16 88505287 88505287 G C rs150233193 ZNF469 Synonymous SNV G3803G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 0.172 172992 chr22 21075669 21075669 G C PI4KA Nonsynonymous SNV S1647C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 172993 chr2 28533067 28533067 G T BABAM2 Stop gain E364X 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 172994 chr16 88601219 88601219 C G rs376960339 ZFPM1 Synonymous SNV S951S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.678 172995 chr2 29221026 29221026 G A rs369645958 TOGARAM2 Nonsynonymous SNV V16M 0.003 0 0 0 4 0 0 0 0 0 0 0 17.63 172996 chr4 7870409 7870409 G A rs374798435 AFAP1 Synonymous SNV T55T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.094 172997 chr20 43541307 43541307 G A rs185737007 PABPC1L Nonsynonymous SNV R67Q 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 32 172998 chr2 29455204 29455204 C T rs56304041 ALK Synonymous SNV S866S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.36 172999 chr5 74491570 74491570 C T ANKRD31 Synonymous SNV V301V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.74 173000 chr16 88958850 88958850 T C rs522517 CBFA2T3 Synonymous SNV A55A 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 0.008 173001 chr22 23237761 23237761 A G rs200058211 IGLL5 Nonsynonymous SNV S103G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 173002 chr22 24447401 24447401 G A rs758954607 CABIN1 Synonymous SNV P257P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 173003 chr20 48491316 48491316 A C rs778151112 SLC9A8 Nonsynonymous SNV I361L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 173004 chr2 204354519 204354519 A G rs780220292 RAPH1 Nonsynonymous SNV S174P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.17 173005 chr16 89579355 89579355 G C rs371321714 SPG7 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 173006 chr22 25119170 25119170 - A rs778241602 PIWIL3 Frameshift insertion L771Sfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 173007 chr16 89702744 89702744 G A rs73265359 DPEP1 Nonsynonymous SNV V104M 0.004 0.008 0 0 5 3 0 0 0 0 0 0 24 173008 chr16 89703650 89703650 C T rs142873400 DPEP1 Synonymous SNV I210I 0.003 0.008 0 0 4 3 0 0 0 0 0 0 12.08 173009 chr20 52684972 52684972 T C MIR4756 0 0 0.003 0 0 0 0 1 0 0 0 0 1.333 173010 chr17 57288000 57288000 G A SMG8 Synonymous SNV Q196Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.038 173011 chr6 49403302 49403302 G A rs137958217 MMUT Nonsynonymous SNV A664V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 173012 chr4 90170581 90170581 G A rs200125932 GPRIN3 Synonymous SNV I227I 0 0.005 0 0 0 2 0 0 0 0 0 0 8.646 173013 chr5 82832990 82832992 GAA - rs758450587 VCAN E408del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 173014 chr20 5904490 5904490 A G rs751617009 CHGB Nonsynonymous SNV N567S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.39 173015 chr4 98902345 98902345 C T rs201860057 STPG2 Nonsynonymous SNV R246Q 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 30 173016 chr6 55147151 55147151 A G rs200022759 HCRTR2 Nonsynonymous SNV S412G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.76 173017 chr6 158438287 158438287 C T rs143362296 SYNJ2 Nonsynonymous SNV A60V 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 25.4 173018 chr6 56328367 56328367 G A rs760819112 DST Nonsynonymous SNV P5005L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 173019 chr6 619507 619507 G A rs61760959 EXOC2 Synonymous SNV F153F 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 11.25 173020 chr20 60908251 60908251 G A rs200322088 LAMA5 Synonymous SNV A1059A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.941 173021 chr20 61144016 61144016 G A rs561942090 MIR1-1HG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.984 173022 chr2 68546363 68546363 A G rs181137072 CNRIP1 Nonsynonymous SNV L57P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 173023 chr2 69659049 69659049 C A rs76646410 NFU1 Nonsynonymous SNV A51S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.556 173024 chr6 105244816 105244816 A G HACE1 Synonymous SNV D137D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.839 173025 chr17 72769777 72769777 G A rs751674419 NAT9 Nonsynonymous SNV S12L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 173026 chr6 75857498 75857498 G A COL12A1 Nonsynonymous SNV T273I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.48 173027 chr22 38038547 38038547 A C rs761146554 SH3BP1 Nonsynonymous SNV K70T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 173028 chr21 17222109 17222109 C T rs200968968 USP25 Nonsynonymous SNV P784L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 173029 chr2 74692334 74692334 T A rs781033099 MOGS Nonsynonymous SNV E14V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.65 173030 chr19 4558440 4558440 G A SEMA6B Synonymous SNV R10R 0.003 0 0 1 3 0 0.003 0 1 0 0 0 10.88 173031 chr22 40660873 40660873 A T TNRC6B Nonsynonymous SNV E213D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.87 173032 chr17 74475352 74475352 C T rs748711322 RHBDF2 Nonsynonymous SNV A94T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 173033 chr21 33719710 33719710 C T rs770282430 URB1 Synonymous SNV T1141T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.237 173034 chr6 24798929 24798929 A G rs112448917 ARMH2 Nonsynonymous SNV F53L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.2 173035 chr6 25605105 25605105 G A rs369895726 CARMIL1 Synonymous SNV S1206S 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 13.37 173036 chr6 26027286 26027286 G A rs115249469 HIST1H4B Synonymous SNV N65N 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 Benign 8.838 173037 chr22 43606203 43606203 G A rs148300839 SCUBE1 Synonymous SNV I809I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.71 173038 chr7 100466241 100466241 C T rs150353752 TRIP6 Nonsynonymous SNV P163L 0 0.003 0 0 0 1 0 0 0 0 0 0 30 173039 chr17 7252369 7252369 G A rs143881811 ACAP1 Synonymous SNV A578A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.06 173040 chr2 97166341 97166341 C T rs549194101 NEURL3 Nonsynonymous SNV A117T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.107 173041 chr6 13053643 13053643 C T rs141282814 PHACTR1 Synonymous SNV V7V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.64 173042 chr17 7531072 7531072 G C rs575328474 SAT2 Synonymous SNV P34P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.64 173043 chr2 98852896 98852896 G A rs571984789 VWA3B Synonymous SNV S481S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.879 173044 chr22 45958940 45958940 A G FBLN1 Nonsynonymous SNV S616G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.24 173045 chr22 46765643 46765643 C T rs750519293 CELSR1 Synonymous SNV S2606S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 173046 chr6 33693247 33693247 A G rs200188837 IP6K3 Nonsynonymous SNV C246R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.34 173047 chr6 137477904 137477904 T C rs144243142 IL22RA2 Synonymous SNV T95T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.378 173048 chr22 50632774 50632774 G A rs200485949 TRABD Nonsynonymous SNV V40M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.15 173049 chr6 143091999 143091999 G T rs35675714 HIVEP2 Nonsynonymous SNV L1293I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 10.56 173050 chr6 143092471 143092471 T C rs9484670 HIVEP2 Synonymous SNV P1135P 0.003 0.003 0.01 2 3 1 0.005 3 0 0 1 0 0.005 173051 chr6 36887460 36887460 T C rs569325485 C6orf89 Nonsynonymous SNV I318T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.5 173052 chr17 80051484 80051486 GAA - FASN F148del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173053 chr5 141325192 141325192 C G PCDH12 Synonymous SNV T1103T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 173054 chr3 112998778 112998778 G A rs200692186 BOC Nonsynonymous SNV E711K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 173055 chr5 14387615 14387615 T C rs140850570 TRIO Synonymous SNV H1213H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 2.99 173056 chr21 47423475 47423475 A G rs140534207 COL6A1 Nonsynonymous SNV S879G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.6 173057 chr21 47545185 47545185 T C rs748153892 COL6A2 Synonymous SNV C592C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.361 173058 chr3 11402141 11402141 C G rs146589465 ATG7 Nonsynonymous SNV D483E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.3 173059 chr18 2763768 2763768 A G rs750920961 SMCHD1 Nonsynonymous SNV N1567S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 18.46 173060 chrX 35820546 35820546 C T rs915484650 MAGEB16 Nonsynonymous SNV T78I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.261 173061 chrX 37850292 37850292 G A rs372723653 H2AP Nonsynonymous SNV R67Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.366 173062 chr22 18022052 18022052 G T rs41277562 CECR2 Synonymous SNV G577G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 173063 chr6 43230940 43230940 C T rs34993661 TTBK1 Nonsynonymous SNV P613L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 7.723 173064 chrX 47272406 47272406 C T rs188120885 ZNF157 Nonsynonymous SNV R312C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 173065 chr3 121303788 121303788 G A rs531332897 ARGFX Nonsynonymous SNV R82H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 24.1 173066 chr3 121345562 121345562 C T rs61753287 FBXO40 Synonymous SNV L645L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign 12.78 173067 chr6 44216483 44216483 C T rs11538965 HSP90AB1 Synonymous SNV F39F 0.003 0 0 7 4 0 0.018 0 0 0 0 0 Benign 16.46 173068 chr5 150073770 150073770 G A rs199684111 RBM22 Nonsynonymous SNV T260M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 173069 chr7 105146455 105146455 G T PUS7 Synonymous SNV R178R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 173070 chrX 54265371 54265371 G T WNK3 Synonymous SNV R1271R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.466 173071 chr6 46684750 46684750 C T rs767724546 PLA2G7 Nonsynonymous SNV V65I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.4 173072 chr5 150901488 150901488 T C rs200708864 FAT2 Nonsynonymous SNV T3556A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 173073 chrX 70343492 70343492 G T MED12 Nonsynonymous SNV G556C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 173074 chrX 70343494 70343494 C G MED12 Synonymous SNV G556G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.81 173075 chrX 70356840 70356840 T C MED12 Nonsynonymous SNV S1838P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.634 173076 chr5 151271939 151271939 C G rs149023945 GLRA1 Synonymous SNV S39S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 14.04 173077 chrX 99849281 99849281 G C rs773687515 TNMD Synonymous SNV V115V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.217 173078 chrX 106846441 106846441 - CAGCAGCAGCAACAACAA FRMPD3 Q1776_V1777insQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 173079 chrX 117777500 117777500 A G DOCK11 Synonymous SNV G1447G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.187 173080 chr7 130139732 130139732 T C rs782778040 MEST Synonymous SNV T170T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.093 173081 chrX 122755359 122755359 T A rs777916071 THOC2 Nonsynonymous SNV T1289S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.65 173082 chrX 129519116 129519116 G A GPR119 Synonymous SNV D102D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.918 173083 chr22 31530264 31530264 G A rs748607275 INPP5J Synonymous SNV L525L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.365 173084 chr7 135369002 135369002 G A rs141643096 SLC13A4 Nonsynonymous SNV T539M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 173085 chr17 38911204 38911204 A G KRT25 Nonsynonymous SNV L107P 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 173086 chr6 75828890 75828890 G A rs141593495 COL12A1 Nonsynonymous SNV T1244M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 25.3 173087 chr6 27879113 27879113 T - rs762515906 OR2B2 T329Lfs*17 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 173088 chrX 144905893 144905893 G A rs782530079 SLITRK2 Synonymous SNV V650V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.313 173089 chr3 13612849 13612849 G A FBLN2 Nonsynonymous SNV A332T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 173090 chr22 38106521 38106521 A G rs200529550 TRIOBP Nonsynonymous SNV T68A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.073 173091 chr7 141919919 141919919 A G rs778394666 MGAM2 Nonsynonymous SNV S1870G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 173092 chr3 141457251 141457251 A G rs765540812 RNF7 Nonsynonymous SNV K23R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 173093 chr7 143002041 143002041 A C rs143054447 CASP2 Synonymous SNV A412A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.434 173094 chr22 38477106 38477106 C T rs114890567 SLC16A8 Synonymous SNV A313A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.4 173095 chr22 38823235 38823235 G A rs78901368 KCNJ4 Synonymous SNV T301T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 173096 chr22 39218662 39218662 A G rs61737785 NPTXR Synonymous SNV G485G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 173097 chr22 39218764 39218764 G A rs61737783 NPTXR Synonymous SNV H451H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.904 173098 chr22 39224383 39224383 A G rs34537466 NPTXR Synonymous SNV R253R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 173099 chrX 153657104 153657104 C T ATP6AP1 Synonymous SNV R22R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.37 173100 chr3 14708427 14708427 G A rs145478230 CCDC174 Nonsynonymous SNV V233I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.287 173101 chr22 42382048 42382048 G T SEPTIN3 Nonsynonymous SNV R88L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 173102 chr22 42415326 42415326 G A rs137953119 WBP2NL Nonsynonymous SNV R25Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.798 173103 chr6 35208942 35208942 G C rs200578249 SCUBE3 Nonsynonymous SNV R364P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 173104 chr7 149522191 149522191 C T rs374193506 SSPO 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 13.21 173105 chr3 15475965 15475965 C T rs746650186 EAF1 Nonsynonymous SNV T149M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.84 173106 chr18 72180812 72180812 G T rs144608297 CNDP2 Nonsynonymous SNV R170M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.2 173107 chr18 72776258 72776258 C T rs749970034 ZNF407 Nonsynonymous SNV A2194V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 173108 chr22 45258414 45258414 C T rs148880070 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV T414M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.855 173109 chr1 1877830 1877830 C T rs779493285 CFAP74 Nonsynonymous SNV V764I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.64 173110 chr22 46792575 46792575 G A rs770227748 CELSR1 Nonsynonymous SNV R1924C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 173111 chr3 164907615 164907615 G A rs376938534 SLITRK3 Nonsynonymous SNV P335L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 173112 chr6 39162417 39162417 G A rs199498902 KCNK5 Nonsynonymous SNV R140C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 173113 chr5 36680579 36680579 G A rs549250283 SLC1A3 Nonsynonymous SNV V281I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 173114 chr6 42152602 42152602 T C GUCA1B Nonsynonymous SNV N185S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.97 173115 chr3 172491707 172491707 A G rs61747133 ECT2 Synonymous SNV P421P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.696 173116 chr3 172766761 172766761 G A rs116466451 SPATA16 Nonsynonymous SNV L246F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 173117 chr2 84934671 84934671 G A rs201375253 DNAH6 Nonsynonymous SNV R2960H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 34 173118 chr17 46019113 46019113 C T PNPO Synonymous SNV H24H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.36 173119 chr3 180669184 180669184 A G FXR1 Synonymous SNV Q243Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.343 173120 chr5 52340895 52340895 C G ITGA2 Synonymous SNV T120T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.518 173121 chr1 7879401 7879401 A G rs147327372 PER3 Nonsynonymous SNV T527A 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.01 173122 chr19 1052006 1052006 G A rs766698472 ABCA7 Nonsynonymous SNV V1010M 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 12.8 173123 chr2 109745533 109745533 G A rs921672049 SH3RF3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 173124 chr2 9989546 9989546 A G rs145202820 TAF1B Synonymous SNV Q54Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.097 173125 chr5 60628541 60628546 GGCGGC - rs864309616 ZSWIM6 G153_G154del 0 0.008 0 0 0 3 0 0 0 1 0 0 173126 chr5 64521948 64521948 C G rs373118005 ADAMTS6 Nonsynonymous SNV D678H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 173127 chr5 66448490 66448490 A C MAST4 Synonymous SNV G846G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.203 173128 chr5 66462666 66462666 G C rs56206043 MAST4 Synonymous SNV V2292V 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 0.686 173129 chr6 54013881 54013881 G A MLIP Nonsynonymous SNV A214T 0.002 0 0 0 2 0 0 0 0 0 0 0 30 173130 chr17 56621053 56621053 C T SEPTIN4 Synonymous SNV K165K 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 11.82 173131 chr5 68467099 68467099 T G rs868016307 CCNB1 Synonymous SNV V122V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.243 173132 chr5 68588160 68588160 T G rs145239826 CCDC125 Nonsynonymous SNV E318D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.7 173133 chr7 31690831 31690831 C T rs7799540 ITPRID1 Nonsynonymous SNV H887Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.1 173134 chr6 70071056 70071056 C G rs367545953 ADGRB3 Synonymous SNV V1297V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.272 173135 chr7 36483446 36483446 C T ANLN Nonsynonymous SNV T981I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 173136 chr6 71603916 71603916 G A rs780210019 B3GAT2 Synonymous SNV Y217Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.322 173137 chr7 117188850 117188850 G A rs79074685 CFTR Synonymous SNV A455A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.76 173138 chr7 37903980 37903980 C T rs200863038 NME8 Nonsynonymous SNV P162L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 173139 chr1 16737320 16737320 C T rs774653684 SPATA21 Nonsynonymous SNV A10T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.472 173140 chr2 133541819 133541819 G C rs371146357 NCKAP5 Synonymous SNV P855P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.703 173141 chr7 12376835 12376835 C T rs200831817 VWDE Nonsynonymous SNV R1362H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 173142 chr6 76386828 76386828 T A rs202019332 SENP6 Nonsynonymous SNV N561K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 173143 chr2 141272253 141272253 C T rs61732738 LRP1B Synonymous SNV G2746G 0 0 0.01 0 0 0 0 3 0 0 0 0 15.07 173144 chr7 44555794 44555794 C T rs764595290 NPC1L1 Synonymous SNV A1174A 0 0.005 0 0 0 2 0 0 0 0 0 0 1.972 173145 chr2 144966208 144966208 T C rs16823579 GTDC1 Synonymous SNV L47L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.495 173146 chr7 44807168 44807168 C T rs759984505 ZMIZ2 Synonymous SNV P877P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.4 173147 chr5 79616641 79616641 G A rs201817970 SPZ1 Nonsynonymous SNV A203T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.103 173148 chr2 152521900 152521900 T G rs767099149 NEB Nonsynonymous SNV M1729L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 173149 chr3 37536008 37536008 C T rs143120640 ITGA9 Synonymous SNV Y187Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 173150 chr19 7696678 7696678 C T rs112367781 PCP2 Nonsynonymous SNV R87Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 173151 chr2 160832666 160832666 A G rs779944243 PLA2R1 Synonymous SNV F836F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.851 173152 chr2 164466072 164466072 C T rs776699577 FIGN Nonsynonymous SNV C746Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26 173153 chr7 4839097 4839097 C T rs370526851 RADIL Nonsynonymous SNV R1047H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 173154 chr3 39162498 39162498 A G TTC21A Nonsynonymous SNV H263R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 173155 chr2 166903333 166903333 C T SCN1A Nonsynonymous SNV A442T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 173156 chr2 167334057 167334057 A G SCN7A Synonymous SNV L50L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.712 173157 chr17 73871171 73871171 G A rs930521522 TRIM47 Nonsynonymous SNV A437V 0.002 0 0 0 2 0 0 0 0 0 0 0 27 173158 chr2 179408730 179408730 C T rs752553035 TTN Synonymous SNV T22982T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.87 173159 chr7 6693797 6693797 A G ZNF316 Nonsynonymous SNV K857R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 173160 chr2 179418011 179418011 T C rs777509175 TTN Synonymous SNV T20807T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.561 173161 chr3 129290035 129290035 C A rs143564778 PLXND1 Nonsynonymous SNV V1150L 0.006 0 0.003 5 7 0 0.013 1 0 0 0 0 Likely benign 0.004 173162 chr7 1480250 1480250 C T MICALL2 Synonymous SNV V594V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.011 173163 chr7 149480031 149480031 G A rs199755886 SSPO 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.37 173164 chr2 1796129 1796129 C G MYT1L Synonymous SNV L1128L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.923 173165 chr7 149521591 149521591 G A rs200083465 SSPO 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 2.905 173166 chr7 149558743 149558743 A G ZNF862 Nonsynonymous SNV M832V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.61 173167 chr17 78727902 78727902 C T rs377647156 RPTOR Synonymous SNV T249T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 173168 chr2 186678562 186678562 G A rs779866454 FSIP2 Synonymous SNV T6706T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.518 173169 chr17 79516332 79516332 C T rs374832539 FAAP100 Nonsynonymous SNV D435N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.429 173170 chr7 155538112 155538112 C T rs143396425 RBM33 Nonsynonymous SNV P932L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.87 173171 chr7 91631236 91631236 G C AKAP9 Nonsynonymous SNV G669R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.9 173172 chr6 118832476 118832476 A G rs760965108 CEP85L Synonymous SNV Y414Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 173173 chr1 42657223 42657223 C T rs141093778 FOXJ3 Nonsynonymous SNV V334I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 173174 chr2 196682535 196682535 T C rs775930593 DNAH7 Nonsynonymous SNV M3104V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 173175 chr3 51908113 51908113 C T rs199564539 IQCF5 Nonsynonymous SNV R28Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 173176 chr7 97822768 97822768 G A rs7811138 LMTK2 Synonymous SNV P997P 0.002 0.01 0 0 2 4 0 0 0 0 0 0 4.94 173177 chr7 19156685 19156685 - CGC rs940980829 TWIST1 G86_A87insG 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 173178 chr3 52539711 52539711 G A rs201042280 STAB1 Nonsynonymous SNV G537R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 173179 chr2 203051782 203051782 A T rs528353461 KIAA2012 Synonymous SNV P779P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 173180 chr2 206628650 206628650 T C rs778911017 NRP2 Nonsynonymous SNV M766T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 173181 chr19 14508893 14508893 A G rs750740280 ADGRE5 Nonsynonymous SNV D187G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.2 173182 chr7 2314780 2314780 C A SNX8 Nonsynonymous SNV V129L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.8 173183 chr7 2473231 2473231 C T rs145060306 CHST12 Synonymous SNV N319N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 6.4 173184 chr2 208992995 208992995 G A rs780109947 CRYGC Nonsynonymous SNV R153W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 173185 chr7 121659309 121659309 C G PTPRZ1 Nonsynonymous SNV L799V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 173186 chr2 211085464 211085464 A G rs145668318 ACADL Nonsynonymous SNV I47T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.5 173187 chr3 57310715 57310715 G A rs146163375 ASB14 Nonsynonymous SNV R258W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 173188 chr7 29606141 29606141 G C rs375384743 PRR15 Nonsynonymous SNV G66R 0.003 0 0 0 3 0 0 0 0 0 0 0 13.34 173189 chr8 10470781 10470781 T C RP1L1 Nonsynonymous SNV E276G 0 0.005 0 2 0 2 0.005 0 0 0 0 0 23.4 173190 chr7 128493639 128493639 A G rs755736125 FLNC Nonsynonymous SNV I2076V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 12.14 173191 chr2 219896286 219896286 C T rs376689400 CFAP65 Nonsynonymous SNV R182H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.57 173192 chr18 21752415 21752415 G A rs45467295 OSBPL1A Nonsynonymous SNV T196I 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 32 173193 chr3 9102016 9102016 G A rs35952589 SRGAP3 Synonymous SNV L234L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.02 173194 chr18 28576763 28576763 G C rs147754850 DSC3 Synonymous SNV L829L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 173195 chr3 9416254 9416254 G A rs201610472 THUMPD3 Nonsynonymous SNV E288K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 173196 chr3 9517561 9517561 C T rs62246321 SETD5 Nonsynonymous SNV T1372I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 173197 chr3 9767737 9767737 T A rs771386948 CPNE9 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 173198 chr7 138418931 138418931 C T rs61747675 ATP6V0A4 Synonymous SNV L547L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.03 173199 chr18 29052296 29052296 G A rs148588573 DSG3 Synonymous SNV G649G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.842 173200 chr1 62261188 62261188 G A rs200494762 PATJ Synonymous SNV A406A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 11.44 173201 chr6 15496727 15496727 G A rs768340245 JARID2 Nonsynonymous SNV G252E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 173202 chr7 140774297 140774297 T C rs772714983 TMEM178B Synonymous SNV L63L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.925 173203 chr7 141619075 141619075 A G rs782620469 OR9A4 Nonsynonymous SNV I134V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 173204 chr8 139160764 139160764 A G rs140853530 FAM135B Synonymous SNV D1149D 0.006 0.008 0.007 2 7 3 0.005 2 0 0 0 0 8.834 173205 chr1 70625071 70625071 G A rs145682711 LRRC40 Nonsynonymous SNV P388S 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 22.9 173206 chr19 19681052 19681052 C T PBX4 Nonsynonymous SNV M166I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.2 173207 chr7 48007500 48007500 G C rs3176588 HUS1 Nonsynonymous SNV D200E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.042 173208 chr4 109817839 109817839 C T COL25A1 Nonsynonymous SNV G293D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 173209 chr2 233757708 233757708 C T rs146544382 NGEF Nonsynonymous SNV V256M 0 0 0.007 0 0 0 0 2 0 0 0 0 28.5 173210 chr7 48314876 48314876 A C rs57187359 ABCA13 Synonymous SNV S1871S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 173211 chr7 48318732 48318732 G A rs781712757 ABCA13 Nonsynonymous SNV M2647I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 173212 chr4 123314778 123314778 A G ADAD1 Synonymous SNV L188L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.115 173213 chr8 144992076 144992076 C T rs73715559 PLEC Synonymous SNV A3957A 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 10.1 173214 chr3 32932739 32932739 G A rs761536522 TRIM71 Synonymous SNV T681T 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 7.315 173215 chr2 238249631 238249631 G A rs111595697 COL6A3 Nonsynonymous SNV A2036V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 13.44 173216 chr7 6075760 6075760 C A rs117715040 ANKRD61 Nonsynonymous SNV L334I 0.008 0.01 0.014 2 9 4 0.005 4 0 0 0 0 23.5 173217 chr4 126371019 126371019 A C rs538489921 FAT4 Nonsynonymous SNV S2952R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 173218 chr6 20124769 20124769 C T rs367630045 MBOAT1 Synonymous SNV T259T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.28 173219 chr2 239990562 239990562 G T rs62189535 MIR4440 0 0 0.007 0 0 0 0 2 0 0 0 0 0.055 173220 chr1 94057819 94057819 T C rs201951027 BCAR3-AS1 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.46 173221 chr7 21750215 21750215 G A rs762176618 DNAH11 Nonsynonymous SNV R2243Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 173222 chr7 75615092 75615092 A G rs886062442 POR Nonsynonymous SNV I532V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 15.64 173223 chr2 24245715 24245715 G A rs543643441 MFSD2B Synonymous SNV P334P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 173224 chr1 99762364 99762364 A G PLPPR4 Nonsynonymous SNV N160S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.694 173225 chr4 147560457 147560457 - GGCGGCGGC POU4F2 G68_R69insGGG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173226 chr2 26533808 26533808 C T rs58453991 ADGRF3 Nonsynonymous SNV V731M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 173227 chr1 109479937 109479937 T C CLCC1 Nonsynonymous SNV Q197R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.092 173228 chr8 17797566 17797566 G A rs377606947 PCM1 Nonsynonymous SNV E267K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.06 173229 chr8 17919844 17919844 C T rs151320126 ASAH1 Nonsynonymous SNV V192I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.1 173230 chr2 27438399 27438399 T G rs201262854 ATRAID Synonymous SNV T117T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.453 173231 chr19 1009504 1009504 G C rs756460571 GRIN3B Nonsynonymous SNV G1012A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 6.888 173232 chr7 33054437 33054437 C T NT5C3A Nonsynonymous SNV E268K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 173233 chr2 33952598 33952598 C T rs778392647 MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 5.806 173234 chr4 169377257 169377257 G A rs201778236 DDX60L Nonsynonymous SNV S257L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.57 173235 chr2 33952770 33952770 G T rs75672894 MYADML 0 0 0.017 0 0 0 0 5 0 0 0 0 2.3 173236 chr1 113661921 113661921 G A rs139116622 LRIG2 Nonsynonymous SNV R916Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 173237 chr2 37230680 37230683 CTTA - HEATR5B 0 0 0.003 0 0 0 0 1 0 0 0 0 173238 chr2 37454811 37454811 C T rs76819627 CEBPZ Nonsynonymous SNV D509N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.43 173239 chr1 115220534 115220534 G C rs144014236 AMPD1 Nonsynonymous SNV I436M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 173240 chr19 2733032 2733032 C T rs201755612 SLC39A3 Nonsynonymous SNV R221Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 26.1 173241 chr4 178243619 178243619 G T NEIL3 Nonsynonymous SNV A55S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.249 173242 chr8 27098676 27098676 G C rs117681806 STMN4 Synonymous SNV P62P 0.008 0.003 0 2 9 1 0.005 0 1 0 0 0 Benign 4.589 173243 chr4 1807840 1807840 C T rs748492424 FGFR3 Synonymous SNV I521I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.04 173244 chr4 183594357 183594357 G A rs201014580 TENM3 Synonymous SNV P437P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 173245 chr2 54482733 54482733 C G rs202006037 TSPYL6 Nonsynonymous SNV E186Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 173246 chr8 28574368 28574368 A C rs762271982 EXTL3 Synonymous SNV P264P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 173247 chr1 150432586 150432586 G T RPRD2 Nonsynonymous SNV V376L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.42 173248 chr2 54895637 54895637 C T rs2229504 SPTBN1 Synonymous SNV P2342P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 173249 chr8 110131647 110131647 C A TRHR Nonsynonymous SNV T387N 0.004 0 0 0 5 0 0 0 0 0 0 0 18.59 173250 chr2 61391652 61391652 A G C2orf74 Nonsynonymous SNV E113G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 173251 chr7 48563987 48563987 A T rs201872941 ABCA13 Nonsynonymous SNV Q4732L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.772 173252 chr1 151584752 151584752 G A rs777499754 SNX27 Synonymous SNV G25G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.02 173253 chr19 45179583 45179583 C T rs202126119 CEACAM19 Synonymous SNV N155N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.38 173254 chr19 45281270 45281270 C T rs764374254 CBLC Synonymous SNV L28L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 173255 chr1 152957753 152957753 C T SPRR1A Nonsynonymous SNV P16L 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.067 173256 chr1 153657498 153657498 G A rs754975622 NPR1 Nonsynonymous SNV V515I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 173257 chr2 74689335 74689335 G T rs200508287 MOGS Nonsynonymous SNV D527E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 3.014 173258 chr1 154544628 154544628 T C CHRNB2 Synonymous SNV D443D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.003 173259 chr7 6693061 6693061 A G ZNF316 Nonsynonymous SNV S612G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.504 173260 chr2 84960620 84960620 C T rs994650522 DNAH6 Nonsynonymous SNV A3420V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 173261 chr1 155145253 155145253 G A rs142437742 KRTCAP2 Synonymous SNV G66G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.11 173262 chr3 66434680 66434680 G C rs141588747 LRIG1 Synonymous SNV T602T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.735 173263 chr4 36317983 36317983 A G DTHD1 Nonsynonymous SNV K449E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 173264 chr4 36345221 36345229 CATTCAGCT - rs774117772 DTHD1 Q544_I546del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 173265 chr6 6649867 6649867 A G rs5743651 LY86 Nonsynonymous SNV Y121C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 173266 chr19 8176560 8176560 G A rs138217583 FBN3 Synonymous SNV G1352G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 6.374 173267 chr19 49254121 49254121 G A rs201562036 FUT1 Nonsynonymous SNV P140S 0 0.01 0 0 0 4 0 0 0 0 0 0 0.212 173268 chr19 49300574 49300574 C T rs139881168 BCAT2 Nonsynonymous SNV V146M 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 26.3 173269 chr8 139833379 139833379 G A rs116425421 COL22A1 Synonymous SNV D415D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 4.86 173270 chr2 97482779 97482779 G T rs751658323 CNNM3 Synonymous SNV A255A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.351 173271 chr2 97505738 97505738 T C ANKRD23 Nonsynonymous SNV D240G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 173272 chr8 85774536 85774536 T C rs777877376 RALYL Nonsynonymous SNV F129S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 173273 chr4 40434715 40434715 C T rs756413413 RBM47 Nonsynonymous SNV A430T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 173274 chr8 88885744 88885744 A G rs150638620 DCAF4L2 Synonymous SNV T152T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 1.16 173275 chr1 157491066 157491066 C G rs74858059 FCRL5 Synonymous SNV P752P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 6.178 173276 chr1 157494217 157494217 A G rs76824212 FCRL5 Synonymous SNV D697D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 0.059 173277 chr7 89793911 89793911 G T STEAP1 Nonsynonymous SNV V295F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 173278 chr19 50862765 50862765 C T rs202120944 NAPSA Nonsynonymous SNV G311R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.7 173279 chr1 160394996 160394996 A C rs143298058 VANGL2 Nonsynonymous SNV E465A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 173280 chr7 94993263 94993263 A T rs747017958 PON3 Nonsynonymous SNV Y203N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 173281 chr8 144789242 144789242 T G CCDC166 Synonymous SNV V314V 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 0.823 173282 chr8 144803436 144803436 G A rs556314608 MAPK15 Synonymous SNV S353S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 3.986 173283 chr8 144804349 144804349 C T MAPK15 Synonymous SNV Y521Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.318 173284 chr7 97911722 97911722 C A rs150164653 BRI3 Nonsynonymous SNV P68T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 173285 chr4 5624628 5624628 G C rs143662104 EVC2 Nonsynonymous SNV L633V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.002 173286 chr1 161954658 161954658 G A rs138789156 OLFML2B Synonymous SNV Y530Y 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 11.74 173287 chr8 101620752 101620752 G A rs145028188 SNX31 Synonymous SNV C118C 0.011 0.005 0.003 4 13 2 0.01 1 0 0 0 0 4.444 173288 chr9 111625612 111625612 C A rs989169864 ACTL7A Nonsynonymous SNV T337N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 173289 chr1 166958715 166958715 C G rs144910501 MAEL Nonsynonymous SNV D42E 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 16.16 173290 chr9 114304643 114304643 T C ZNF483 Synonymous SNV F476F 0 0.005 0 0 0 2 0 0 0 0 0 0 0.332 173291 chr19 9577335 9577335 A C rs138449365 ZNF560 Nonsynonymous SNV M657R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.084 173292 chr8 145639258 145639258 T C SLC39A4 Nonsynonymous SNV E407G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.988 173293 chr1 171303836 171303836 G A rs45599742 FMO4 Nonsynonymous SNV G372S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 0.078 173294 chr8 106801092 106801092 A G rs202204708 ZFPM2 Nonsynonymous SNV I174V 0.006 0.005 0 6 7 2 0.015 0 0 0 0 0 Likely benign 23.5 173295 chr9 116811805 116811805 G T rs368210659 ZNF618 Synonymous SNV P708P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.27 173296 chr9 116811806 116811806 G T rs527742445 ZNF618 Nonsynonymous SNV V709L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.2 173297 chr8 17072823 17072823 C T rs202226307 ZDHHC2 Nonsynonymous SNV T298M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.5 173298 chr1 178489520 178489520 A G rs146640002 TEX35 Nonsynonymous SNV D105G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.9 173299 chr8 11643782 11643782 A G NEIL2 Synonymous SNV X272X 0.001 0 0 0 1 0 0 0 0 0 0 0 3.618 173300 chr3 129221561 129221561 G A rs76007598 IFT122 Nonsynonymous SNV D684N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.4 173301 chr3 129249876 129249876 C T rs149722668 RHO Synonymous SNV A173A 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 12.42 173302 chr1 182554625 182554625 C T rs149129827 RNASEL Synonymous SNV Q439Q 0 0 0 2 0 0 0.005 0 0 0 0 0 11.63 173303 chr3 133342163 133342163 C T rs778620363 TOPBP1 Nonsynonymous SNV D1018N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 173304 chr3 134080526 134080526 C T rs367972576 AMOTL2 Nonsynonymous SNV R526Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 173305 chr19 15918097 15918097 C T rs569257281 OR10H1 Nonsynonymous SNV V251M 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 24.5 173306 chr1 197390581 197390581 C A CRB1 Stop gain Y429X 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 173307 chr19 56029556 56029556 C G rs200305118 SSC5D Nonsynonymous SNV P1305A 0.001 0.008 0 0 1 3 0 0 0 1 0 0 0.002 173308 chr19 56029560 56029577 ACCCCACCACGACCCCTT - rs145888701 SSC5D Y1312_P1317del 0 0.005 0 0 0 2 0 0 0 0 0 0 173309 chr19 56029606 56029606 G A rs76326175 SSC5D Synonymous SNV T1321T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.153 173310 chr8 143746726 143746726 G A JRK Nonsynonymous SNV P251L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 173311 chr3 146171821 146171821 C T rs202121042 PLSCR2 Nonsynonymous SNV V220M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 173312 chr9 13136783 13136783 T C rs200891478 MPDZ Nonsynonymous SNV Y1374C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 28.9 173313 chr3 150128751 150128751 G C rs145808061 TSC22D2 Synonymous SNV S538S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.218 173314 chr7 120979353 120979353 G A rs376388838 WNT16 Nonsynonymous SNV R341H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 173315 chr3 155200733 155200733 C T rs202119307 PLCH1 Nonsynonymous SNV D1028N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 173316 chr8 38027393 38027393 C T LSM1 Nonsynonymous SNV G53D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 173317 chr7 12610517 12610517 C G SCIN Nonsynonymous SNV S35R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 173318 chr7 127528021 127528021 C G SND1 Nonsynonymous SNV D470E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.6 173319 chr8 144889133 144889133 C T rs367817214 SCRIB Synonymous SNV A743A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 173320 chr19 18085052 18085052 G A rs750178153 KCNN1 Nonsynonymous SNV V119I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 173321 chr4 177098790 177098790 G A rs145267415 WDR17 Synonymous SNV T1239T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.61 173322 chr5 110462580 110462580 A G WDR36 Synonymous SNV X952X 0.004 0.005 0 0 5 2 0 0 0 0 0 0 8.755 173323 chr3 169664045 169664045 C T rs114331729 LOC100128164 0 0 0.003 0 0 0 0 1 0 0 0 0 9.022 173324 chr1 205632684 205632684 G A rs753484902 SLC45A3 Nonsynonymous SNV R79C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 173325 chr9 135203961 135203961 G C SETX Synonymous SNV T1008T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.661 173326 chr9 135985047 135985047 C T rs756045391 RALGDS Nonsynonymous SNV D129N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.767 173327 chr8 61655545 61655545 G C rs369284507 CHD7 Nonsynonymous SNV Q518H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 14.72 173328 chr1 207200875 207200875 - T rs201900436 C1orf116 Frameshift insertion D23Efs*14 0.002 0 0 4 2 0 0.01 0 0 0 0 0 173329 chr8 145113053 145113053 T C OPLAH 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 173330 chr1 212225215 212225215 G A rs2970593 RPL21P28 0 0 0 2 0 0 0.005 0 0 0 0 1 15.9 173331 chr4 187628556 187628556 T C rs201850668 FAT1 Nonsynonymous SNV H809R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.007 173332 chr1 212619173 212619173 C T rs200680061 NENF Nonsynonymous SNV T115M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 173333 chr4 189012849 189012849 G A rs145561633 TRIML2 Nonsynonymous SNV T356M 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 173334 chr19 58991666 58991666 C T rs530628451 ZNF446 Nonsynonymous SNV P309L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.612 173335 chr19 30500121 30500122 AT - rs776458789 URI1 D281Gfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 173336 chr19 30500124 30500124 A - rs770069266 URI1 D282Vfs*26 0.002 0 0 0 2 0 0 0 0 0 0 0 173337 chr19 30935283 30935283 G T rs747256293 ZNF536 Nonsynonymous SNV A272S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 173338 chr8 145999189 145999189 C T ZNF34 Nonsynonymous SNV R342H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 173339 chr7 141720870 141720870 G A rs781807541 MGAM Nonsynonymous SNV R182H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 173340 chr20 1358068 1358068 C T rs571361128 SDCBP2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 9.152 173341 chr1 215792511 215792511 C T rs77357619 KCTD3 Synonymous SNV T586T 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 15.43 173342 chr1 215792535 215792535 C G rs75651965 KCTD3 Synonymous SNV L594L 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 10.92 173343 chr7 142606664 142606664 C A TRPV5 Nonsynonymous SNV W629C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 173344 chr1 215793855 215793855 T C rs3767253 KCTD3 Synonymous SNV D779D 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.949 173345 chr1 215799170 215799170 T C rs58257972 USH2A Nonsynonymous SNV S5188G 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 22.7 173346 chr1 215808022 215808022 T C rs41308435 USH2A Nonsynonymous SNV K5026E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 0.021 173347 chr1 215821909 215821909 C T rs77211159 USH2A Nonsynonymous SNV R4848Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 10.56 173348 chr1 215821939 215821939 C T rs41315587 USH2A Nonsynonymous SNV G4838E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 1.212 173349 chr1 215821971 215821971 G A rs41304083 USH2A Synonymous SNV A4827A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 7.784 173350 chr9 139642896 139642896 A G rs4880139 LCN6 Nonsynonymous SNV S14P 0.005 0.008 0 4 6 3 0.01 0 0 0 0 0 1.581 173351 chr4 3526764 3526764 G A rs148553602 LRPAP1 Synonymous SNV P73P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 13.79 173352 chr1 220269501 220269501 A C IARS2 Nonsynonymous SNV E108A 0 0 0 1 0 0 0.003 0 0 0 0 0 23 173353 chr5 137354668 137354668 C T rs754701574 FAM13B Nonsynonymous SNV V45I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.55 173354 chr1 223983529 223983529 G C TP53BP2 Synonymous SNV V904V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.729 173355 chr8 21980318 21980318 A C HR Nonsynonymous SNV F664V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 173356 chr7 149558352 149558352 G A ZNF862 Nonsynonymous SNV M701I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.49 173357 chr8 22173829 22173829 C T rs746837231 PIWIL2 Synonymous SNV F760F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 173358 chr9 104189856 104189856 C G rs1800546 ALDOB Nonsynonymous SNV A150P 0.007 0.013 0.01 1 8 5 0.003 3 0 0 0 0 Pathogenic 31 173359 chr1 226413413 226413413 A G MIXL1 Nonsynonymous SNV Q208R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.4 173360 chr9 106889596 106889596 G C rs147970243 SMC2 Synonymous SNV V875V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.18 173361 chr7 150558133 150558133 C T rs766467987 AOC1 Nonsynonymous SNV P698S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 173362 chr3 32031883 32031883 C T rs761303546 ZNF860 Nonsynonymous SNV R438C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.474 173363 chr3 3221317 3221317 - C CRBN Frameshift insertion P19Afs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 173364 chr3 32582646 32582646 A T rs370442147 DYNC1LI1 Synonymous SNV S91S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 173365 chr8 27327399 27327399 G A rs151268950 CHRNA2 Nonsynonymous SNV T58I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.15 173366 chr8 27362592 27362592 G A rs200543697 EPHX2 Nonsynonymous SNV V90M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 173367 chr7 1520077 1520077 T C rs187845066 INTS1 Nonsynonymous SNV D1317G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.28 173368 chr5 140741145 140741145 G T PCDHGB2 Nonsynonymous SNV L481F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 173369 chr3 33673860 33673860 G C rs745354490 CLASP2 Nonsynonymous SNV A56G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.54 173370 chr5 140801201 140801201 A G rs771759412 PCDHGA11 Nonsynonymous SNV E136G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.83 173371 chr9 114154073 114154073 C A rs199791808 ECPAS Nonsynonymous SNV V1042L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 22.5 173372 chr5 141335801 141335801 T C rs758306482 PCDH12 Nonsynonymous SNV D539G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 173373 chr20 18790638 18790638 T - C20orf78 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173374 chr8 37822975 37822975 T C rs200277866 ADRB3 Nonsynonymous SNV N338S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 173375 chr8 37823536 37823536 T C rs200133226 ADRB3 Nonsynonymous SNV K151R 0.003 0 0 0 3 0 0 0 0 0 0 0 23 173376 chr7 20406635 20406635 G A rs367941451 ITGB8 Nonsynonymous SNV D72N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.4 173377 chr8 38845519 38845519 G C rs139374339 HTRA4 Nonsynonymous SNV D445H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.1 173378 chr8 39091482 39091482 G A rs201584915 ADAM32 Nonsynonymous SNV G468S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 173379 chr3 42733420 42733420 G A rs144659891 KLHL40 Nonsynonymous SNV A601T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.89 173380 chr7 22986683 22986683 T C rs550919684 FAM126A Nonsynonymous SNV K392R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.56 173381 chr20 29891068 29891068 C T rs181424547 DEFB116 Nonsynonymous SNV D86N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.607 173382 chr3 44951698 44951698 G A TGM4 Nonsynonymous SNV V482M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.779 173383 chr20 30510784 30510784 G A rs376428616 TTLL9 Nonsynonymous SNV D85N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 173384 chr20 31022469 31022469 G A rs3746609 ASXL1 Nonsynonymous SNV G591S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.07 173385 chr8 61655410 61655410 G C rs186394299 CHD7 Synonymous SNV G473G 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 7.366 173386 chr19 43097885 43097885 G C rs772817344 CEACAM8 Nonsynonymous SNV R78G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.41 173387 chr1 247143211 247143211 G A rs558203627 ZNF670-ZNF695 0 0 0 1 0 0 0.003 0 0 0 0 0 4.064 173388 chr1 247242027 247242027 C T rs547380238 ZNF670-ZNF695 0 0 0 1 0 0 0.003 0 0 0 0 0 7.471 173389 chr1 247769786 247769786 C A rs61737569 OR2G3 Nonsynonymous SNV A300D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.9 173390 chr3 47463962 47463962 G A rs562436228 SCAP Synonymous SNV I150I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 173391 chr9 79461456 79461456 G C rs200722902 PRUNE2 Synonymous SNV T161T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.41 173392 chr5 159707731 159707731 G A rs76732875 CCNJL Synonymous SNV P27P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.5 173393 chr8 92375732 92375732 A T rs140569478 SLC26A7 Nonsynonymous SNV E184V 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 22.7 173394 chr9 130169436 130169436 T A SLC2A8 Nonsynonymous SNV C285S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24 173395 chr9 130169522 130169522 G T SLC2A8 Synonymous SNV G313G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.06 173396 chr1 248039252 248039252 G A rs200948948 TRIM58 Nonsynonymous SNV A308T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.04 173397 chr9 90342523 90342523 A C rs112682750 CTSL Nonsynonymous SNV N2T 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.014 173398 chr8 95182723 95182723 G A rs369436985 CDH17 Nonsynonymous SNV P323L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 173399 chr3 49662464 49662464 C T BSN Nonsynonymous SNV P94L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 173400 chr9 130578087 130578087 - GGGAGC rs755207132 ENG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173401 chr5 167689455 167689455 G A rs374278776 TENM2 Synonymous SNV T2416T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 173402 chr8 98991158 98991158 T C rs184482356 MATN2 Nonsynonymous SNV C335R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.6 173403 chr9 131396069 131396069 C T rs373418441 WDR34 Nonsynonymous SNV R522Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.6 173404 chr5 169535251 169535251 G A rs121909340 FOXI1 Nonsynonymous SNV G258E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.154 173405 chr20 44576218 44576218 G A rs778597602 PCIF1 Nonsynonymous SNV D647N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.3 173406 chr5 170148768 170148768 C G rs528298761 KCNIP1 Nonsynonymous SNV P88R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.443 173407 chr3 52561686 52561686 G A rs773785330 NT5DC2 Synonymous SNV F328F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 173408 chr3 53126414 53126414 G A RFT1 Nonsynonymous SNV L477F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 173409 chr5 173036313 173036313 - T BOD1 Frameshift insertion A163Sfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 173410 chr3 53834332 53834332 T C rs755075461 CACNA1D Synonymous SNV C1645C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.973 173411 chr1 248551158 248551158 A G rs777032363 OR2T6 Synonymous SNV V83V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.007 173412 chr1 248551360 248551360 G A rs762508817 OR2T6 Nonsynonymous SNV G151S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 173413 chr5 175796174 175796174 G A rs189355583 ARL10 Synonymous SNV S250S 0.011 0 0.007 0 13 0 0 2 0 0 0 0 0.364 173414 chr5 176517532 176517532 G A rs200146267 FGFR4 Nonsynonymous SNV R78H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 173415 chr20 48552965 48552965 C G rs759498741 RNF114 Nonsynonymous SNV R6G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.86 173416 chr2 3483188 3483188 A C rs749065963 TRAPPC12 Nonsynonymous SNV K722Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.33 173417 chrX 129159287 129159287 C T rs138530347 BCORL1 Synonymous SNV S1337S 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign 13.69 173418 chr3 65342781 65342781 C T rs149895880 MAGI1 Nonsynonymous SNV A1221T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 173419 chr20 54961422 54961422 C T rs759525952 AURKA Synonymous SNV P70P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 173420 chr2 10560168 10560168 C A rs149954396 HPCAL1 Synonymous SNV G95G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.01 173421 chrX 14038578 14038578 C A rs61740319 GEMIN8 Nonsynonymous SNV A31S 0.005 0.008 0.007 3 6 3 0.008 2 2 1 0 1 Benign 28.9 173422 chr2 12863616 12863616 T C rs114874345 TRIB2 Synonymous SNV H167H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.424 173423 chr5 112889336 112889336 A G rs780959391 YTHDC2 Synonymous SNV R339R 0 0 0 3 0 0 0.008 0 0 0 0 0 1.251 173424 chr20 57571788 57571788 G A rs201551005 CTSZ Nonsynonymous SNV T236I 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 173425 chr20 60504831 60504831 G A rs376319086 CDH4 Nonsynonymous SNV A687T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.43 173426 chr7 64168575 64168575 G A rs115898192 ZNF107 Synonymous SNV T668T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.23 173427 chr4 100340251 100340251 T C ADH7 Nonsynonymous SNV N297D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 173428 chr2 25470960 25470960 G A rs116609083 DNMT3A Synonymous SNV S115S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.465 173429 chr9 139258052 139258052 G A rs759742424 DNLZ Nonsynonymous SNV R39W 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 24.4 173430 chr5 35763747 35763747 C T rs151261391 SPEF2 Synonymous SNV A1248A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.365 173431 chr9 139747572 139747572 C A MAMDC4 Nonsynonymous SNV A22D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 28 173432 chr9 139748264 139748264 G A rs199846019 MAMDC4 Nonsynonymous SNV A164T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 173433 chr9 125512494 125512494 G A rs200034055 OR1L6 Nonsynonymous SNV R123Q 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 33 173434 chr20 62175703 62175703 - G rs761469470 SRMS 0 0.003 0 0 0 1 0 0 0 0 0 0 173435 chr4 110865050 110865050 G A rs764312466 EGF Nonsynonymous SNV D188N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 173436 chr5 40841762 40841762 G A rs7715491 CARD6 Nonsynonymous SNV R93K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 1.727 173437 chr5 40843524 40843524 G A rs61748216 CARD6 Nonsynonymous SNV C185Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.056 173438 chr5 40843761 40843761 G A rs61757657 CARD6 Nonsynonymous SNV G264E 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.184 173439 chr4 114277676 114277676 G A rs150878494 ANK2 Synonymous SNV V2634V 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.684 173440 chr9 140007561 140007561 C T rs376163075 DPP7 Synonymous SNV T238T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.84 173441 chr9 127119003 127119003 C T rs768283845 LOC100129034 0.003 0 0 0 3 0 0 0 0 0 0 0 2.319 173442 chr7 80290473 80290473 C G rs373802173 CD36 Nonsynonymous SNV L126V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 173443 chr5 41382334 41382334 G A rs765853658 PLCXD3 Nonsynonymous SNV H136Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 173444 chr20 62378335 62378335 C T rs200624508 ZBTB46 Nonsynonymous SNV R573Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.98 173445 chr7 82763816 82763816 G A rs771843353 PCLO Nonsynonymous SNV T1017I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.182 173446 chr7 87069068 87069068 C T rs761238221 ABCB4 Nonsynonymous SNV R549H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 173447 chr5 5187866 5187866 T C ADAMTS16 Nonsynonymous SNV I331T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 173448 chr7 87737543 87737543 T C rs777799188 ADAM22 Nonsynonymous SNV F147S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 173449 chr7 8791348 8791348 G A rs200983135 NXPH1 Synonymous SNV V255V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.659 173450 chr2 37302706 37302706 G A HEATR5B Synonymous SNV S173S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.83 173451 chr2 37410591 37410591 A G rs780403141 SULT6B1 Nonsynonymous SNV S127P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23 173452 chr5 140474723 140474723 C G rs372737482 PCDHB2 Nonsynonymous SNV Q117E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 4.771 173453 chr2 42995023 42995023 C T HAAO Nonsynonymous SNV V226M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 173454 chr4 140616403 140616403 G - MGST2 W4Gfs*39 0 0 0.007 0 0 0 0 2 0 0 0 0 173455 chr4 140812077 140812077 T C rs370448750 MAML3 Synonymous SNV P171P 0.003 0.005 0.01 0 3 2 0 3 0 0 0 0 0.002 173456 chr2 48809009 48809009 C A rs775476043 STON1, STON1-GTF2A1L Nonsynonymous SNV Q413K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.2 173457 chr5 70819926 70819926 C T rs34727932 BDP1 Nonsynonymous SNV R1850W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 34 173458 chr5 71493400 71493400 C T rs374277210 MAP1B Synonymous SNV S1280S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.668 173459 chr21 37833630 37833630 C T rs769599110 CLDN14 Nonsynonymous SNV G122S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 173460 chr10 104176268 104176268 C G rs544476881 PSD Synonymous SNV G176G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.786 173461 chr9 135277502 135277502 A G TTF1 Nonsynonymous SNV M236T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 173462 chr9 35045117 35045117 C T C9orf131 Stop gain Q796X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 173463 chrX 66765161 66765161 - GCAGCAGCA AR Q80_E81insQQQ 0.003 0 0 0 3 0 0 0 0 0 0 0 173464 chr21 41455857 41455857 G A rs768623841 DSCAM Synonymous SNV D1403D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.746 173465 chr4 169327792 169327792 A G rs373830421 DDX60L Synonymous SNV D1015D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 173466 chr10 114059393 114059393 C A rs182337914 MIR6715A, MIR6715B 0 0.003 0 0 0 1 0 0 0 0 0 0 18.04 173467 chr10 114136196 114136196 C T rs146947127 ACSL5 Synonymous SNV A43A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.46 173468 chr21 43241470 43241470 G A rs778385197 PRDM15 Synonymous SNV A708A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 173469 chr19 55177713 55177713 A C rs745688581 LILRB4 Nonsynonymous SNV Q328H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.09 173470 chr5 79026412 79026412 A G CMYA5 Synonymous SNV L608L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.535 173471 chr21 43496224 43496224 G A rs371387739 UMODL1 Nonsynonymous SNV G63S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 173472 chr5 79095243 79095243 G A rs200589161 CMYA5 Nonsynonymous SNV R4005H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.493 173473 chr8 11405636 11405636 T A rs746294075 BLK 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 173474 chr10 116057000 116057000 G A rs140286473 AFAP1L2 Synonymous SNV H679H 0.003 0.003 0.003 4 3 1 0.01 1 0 0 0 1 9.091 173475 chr2 74885036 74885036 C T SEMA4F Synonymous SNV L138L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.31 173476 chr5 9190451 9190451 G A rs141668225 SEMA5A Nonsynonymous SNV R401C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 173477 chr4 187519146 187519146 T C rs374812339 FAT1 Synonymous SNV R4079R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.475 173478 chr21 46572597 46572597 G A rs950193533 ADARB1 Nonsynonymous SNV R25K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.11 173479 chr9 14722326 14722326 C T rs138557355 CER1 Synonymous SNV P115P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.564 173480 chr9 847034 847034 C T rs754142920 DMRT1 Synonymous SNV A143A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.99 173481 chr2 97530763 97530763 G A SEMA4C Nonsynonymous SNV R242W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 173482 chr9 14812866 14812866 A G rs780826762 FREM1 Nonsynonymous SNV V946A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 173483 chr10 127455340 127455340 T A rs769138906 MMP21 Nonsynonymous SNV D534V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 173484 chr6 106552857 106552857 C T rs754987679 PRDM1 Synonymous SNV L140L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.786 173485 chr4 27019429 27019429 C T rs1020888544 STIM2 Nonsynonymous SNV A529V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 173486 chr9 18680512 18680512 C T rs753548672 ADAMTSL1 Nonsynonymous SNV P447S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 173487 chr21 47831729 47831729 G A rs61735810 PCNT Synonymous SNV A1796A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.241 173488 chr21 47863734 47863734 C T rs375303389 PCNT Stop gain R3041X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 39 173489 chr10 133976819 133976819 C T rs546924738 JAKMIP3 Nonsynonymous SNV A700V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 173490 chr6 11190515 11190515 G A rs35950261 NEDD9 Synonymous SNV D380D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.852 173491 chr22 18609128 18609128 C T rs2234331 TUBA8 Nonsynonymous SNV A62V 0.005 0.013 0.01 1 6 5 0.003 3 0 0 0 0 Benign 23.8 173492 chr22 19029374 19029374 G A rs200035453 DGCR2 Nonsynonymous SNV H328Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 173493 chr22 19751828 19751828 C A rs760195570 TBX1 Nonsynonymous SNV N221K 0 0.003 0 0 0 1 0 0 0 0 0 0 31 173494 chr9 33956096 33956096 G T rs200331065 UBAP2 Nonsynonymous SNV H230N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.16 173495 chr4 39206834 39206834 C G rs757241775 WDR19 Nonsynonymous SNV P62A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 173496 chr4 39448299 39448299 C T KLB Synonymous SNV L651L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.272 173497 chr6 119136607 119136607 G T MCM9 Nonsynonymous SNV H938N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.267 173498 chr9 37592491 37592491 C T rs150489805 TOMM5 Synonymous SNV P13P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 173499 chr5 32058203 32058203 A C rs144760557 PDZD2 Nonsynonymous SNV N732H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 21.5 173500 chr6 138752979 138752979 T C NHSL1 Nonsynonymous SNV K839E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 173501 chr6 139159648 139159648 A G rs532802319 ECT2L Synonymous SNV E113E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.338 173502 chr5 50125738 50125738 A G rs142626343 PARP8 Nonsynonymous SNV M684V 0 0 0.007 4 0 0 0.01 2 0 0 0 0 15.77 173503 chr6 152623102 152623102 G C rs987594036 SYNE1 Nonsynonymous SNV L5744V 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 173504 chrX 47062117 47062117 C T rs143935711 UBA1 Synonymous SNV D379D 0.003 0 0.003 1 4 0 0.003 1 1 0 0 0 Benign/Likely benign 11.21 173505 chrX 100356092 100356092 G A rs376026355 CENPI Synonymous SNV Q11Q 0.004 0.003 0 0 5 1 0 0 1 0 0 0 0.107 173506 chr8 17928837 17928837 T C ASAH1 Nonsynonymous SNV H79R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.342 173507 chrX 63412811 63412811 G C rs759519548 AMER1 Nonsynonymous SNV P119R 0.002 0 0 1 2 0 0.003 0 1 0 0 0 11.6 173508 chrX 70514301 70514301 C T rs140307297 NONO Synonymous SNV G102G 0.004 0 0 2 5 0 0.005 0 1 0 0 0 Benign 15.68 173509 chrX 110644389 110644389 G A DCX Synonymous SNV R259R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.867 173510 chr6 159191890 159191890 G A rs183636404 EZR Synonymous SNV T332T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 173511 chr6 160183078 160183078 G T rs368969365 SOD2-OT1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.774 173512 chr10 50036919 50036919 A C rs916910143 WDFY4 Nonsynonymous SNV E2106D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.009 173513 chr22 38512135 38512135 C T rs762533381 PLA2G6 Nonsynonymous SNV R555Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 173514 chrX 13337392 13337392 G A rs779851334 ATXN3L Nonsynonymous SNV T221I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.898 173515 chr10 102697203 102697203 A G SLF2 Synonymous SNV L827L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.77 173516 chr10 50531911 50531911 T C rs373240081 C10orf71 Nonsynonymous SNV F441L 0.003 0.005 0.007 2 3 2 0.005 2 0 0 1 0 25.5 173517 chr2 175300950 175300950 T C rs574001789 GPR155 Nonsynonymous SNV K808R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 173518 chr4 90034809 90034809 G A TIGD2 Synonymous SNV V228V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.6 173519 chr2 179296975 179296975 A C PRKRA Nonsynonymous SNV L253R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.37 173520 chr2 179435898 179435898 G A rs754043680 TTN Synonymous SNV N15922N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.523 173521 chr8 27779748 27779748 - C rs755482710 SCARA5 Frameshift insertion S86Efs*4 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 173522 chr10 55582047 55582047 T G rs150303579 PCDH15 Synonymous SNV P1773P 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.393 173523 chr20 30064437 30064437 A G rs370806930 REM1 Synonymous SNV P63P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.068 173524 chr20 30231297 30231297 T C rs753597922 COX4I2 Nonsynonymous SNV I113T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.096 173525 chr20 30381670 30381670 T C rs150674434 TPX2 Nonsynonymous SNV V510A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 8.386 173526 chr5 10478152 10478152 C T rs761558316 MIR6131 0 0 0.003 0 0 0 0 1 0 0 0 0 0.554 173527 chr22 44692569 44692569 G A rs368266374 SHISAL1 Synonymous SNV S88S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.69 173528 chr8 38260092 38260092 C T rs146651641 LETM2 Nonsynonymous SNV A297V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 173529 chr10 18943967 18943967 T - rs142849740 NSUN6 N9Mfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173530 chrX 19478264 19478264 A G rs1008707170 MAP3K15 Nonsynonymous SNV Y243H 0.003 0 0 0 4 0 0 0 1 0 0 0 12.41 173531 chr10 115657944 115657944 A G rs140827983 NHLRC2 Nonsynonymous SNV D372G 0.001 0.008 0.007 2 1 3 0.005 2 0 0 0 0 20.4 173532 chrX 31089628 31089628 T A rs7058123 FTHL17 Nonsynonymous SNV E148V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 173533 chrX 31089629 31089629 C A rs7057057 FTHL17 Stop gain E148X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 173534 chr5 1239586 1239586 C T rs142665386 SLC6A18 Nonsynonymous SNV R252W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 173535 chr10 72505057 72505057 G A rs372121931 ADAMTS14 Nonsynonymous SNV R753H 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 2.806 173536 chr5 128433442 128433442 G A rs915780662 MIR4633 0 0 0.003 0 0 0 0 1 0 0 0 0 6.452 173537 chr6 10702799 10702799 G A rs62621438 PAK1IP1 Nonsynonymous SNV G124R 0.003 0.005 0.003 3 4 2 0.008 1 0 0 0 0 32 173538 chr5 133901860 133901860 G A rs199507007 JADE2 Nonsynonymous SNV G342S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.917 173539 chr2 192228924 192228924 A G rs200442871 MYO1B Synonymous SNV S318S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.531 173540 chr8 67578651 67578651 G A VCPIP1 Synonymous SNV G181G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.545 173541 chr2 198948627 198948627 G A rs141588918 PLCL1 Nonsynonymous SNV R129H 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 34 173542 chr2 198949131 198949131 G A rs140990771 PLCL1 Nonsynonymous SNV R297H 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 15.85 173543 chr20 46279865 46279865 - GC rs747117653 NCOA3 Frameshift insertion Q1264Hfs*23 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 173544 chr20 46279866 46279866 - GCAGCAGCAGCAGCAG NCOA3 Frameshift insertion Q1264Afs*26 0.002 0.003 0 0 2 1 0 0 0 0 0 0 173545 chr5 13917275 13917275 C T DNAH5 Nonsynonymous SNV D356N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 173546 chrX 10469476 10469476 C T rs111428432 MID1 Nonsynonymous SNV E294K 0.003 0.005 0 0 3 2 0 0 1 0 0 0 Likely benign 0.617 173547 chr10 44053533 44053533 C T rs376660124 ZNF239 Nonsynonymous SNV E41K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.52 173548 chrX 71521934 71521934 G A rs763026495 CITED1 Nonsynonymous SNV T74I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.159 173549 chr5 140768494 140768494 A G rs772950330 PCDHGB4 Nonsynonymous SNV Q348R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.961 173550 chr10 45799592 45799592 A G rs11239431 OR13A1 Synonymous SNV S93S 0.002 0.005 0.01 1 2 2 0.003 3 0 0 0 0 5.282 173551 chr10 45891366 45891366 C T ALOX5 Nonsynonymous SNV T138I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.7 173552 chr6 119332509 119332509 C T rs377057105 FAM184A Nonsynonymous SNV V420I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 173553 chr6 123130310 123130310 C A rs144769762 SMPDL3A Synonymous SNV I242I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.84 173554 chr8 99019819 99019819 G A rs201718231 MATN2 Synonymous SNV K480K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.05 173555 chr10 94669237 94669237 G A rs776087827 EXOC6 Stop gain W171X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 173556 chrX 41587218 41587218 T G GPR82 Nonsynonymous SNV D313E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 173557 chr10 95660720 95660720 G A rs747756945 SLC35G1 Nonsynonymous SNV V191M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.108 173558 chr9 100850186 100850186 G A rs777188169 TRIM14 Nonsynonymous SNV P299S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.644 173559 chr6 130465847 130465847 C T rs201831635 SAMD3 Nonsynonymous SNV D485N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.5 173560 chr10 96534900 96534900 A G CYP2C19 Nonsynonymous SNV E85G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 173561 chr6 142455878 142455878 A C rs13192882 GJE1 Nonsynonymous SNV Y146S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 17 173562 chrX 57515289 57515289 A G rs370438398 FAAH2 Nonsynonymous SNV N468S 0 0.003 0 0 0 1 0 0 0 0 0 0 23 173563 chr10 98945251 98945251 G A rs752991310 SLIT1 Nonsynonymous SNV R61W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 173564 chrX 66765167 66765167 - GCAGCAGCAGCAGCA AR Q80_E81insQQQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173565 chrX 66766357 66766371 GGCGGCGGCGGCGGC - rs768867084 AR G469_G473del 0.005 0.003 0.007 0 6 1 0 2 3 0 1 0 173566 chr2 219503453 219503453 C T rs757596506 ZNF142 Nonsynonymous SNV R1558Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24 173567 chrX 70357196 70357196 C T rs200663107 MED12 Nonsynonymous SNV A1904V 0 0.008 0 0 0 3 0 0 0 1 0 0 Benign/Likely benign 21.8 173568 chr2 219875693 219875693 G A rs144533389 CFAP65 Nonsynonymous SNV S1328L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 173569 chr6 43745354 43745354 C T rs116798649 VEGFA Synonymous SNV D269D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.21 173570 chrX 80532668 80532668 G A rs61733585 SH3BGRL Synonymous SNV G77G 0.007 0.01 0 0 8 4 0 0 2 1 0 0 8.825 173571 chr2 220350188 220350188 G T SPEG Nonsynonymous SNV R2577L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 173572 chr10 25138812 25138812 G T rs35671637 PRTFDC1 Stop gain C213X 0 0.005 0 0 0 2 0 0 0 0 0 0 39 173573 chr10 25312168 25312168 C T rs145170378 THNSL1 Stop gain R6X 0 0.005 0 0 0 2 0 0 0 0 0 0 36 173574 chr2 220494903 220494903 - GACTCGCTGGGGAGAAAA rs535692984 SLC4A3 K246_S247insRLAGEK 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 173575 chr5 175306952 175306952 G A rs150632571 CPLX2 Synonymous SNV A103A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.834 173576 chr5 175798736 175798736 G C rs149831130 ARL10 Nonsynonymous SNV E191D 0 0 0.01 0 0 0 0 3 0 0 0 0 23.1 173577 chr21 27130391 27130391 C T rs111301212 GABPA Synonymous SNV T208T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 173578 chr10 120514191 120514191 C T CACUL1 Synonymous SNV A28A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.67 173579 chr6 4999066 4999066 A G rs140492752 RPP40 Nonsynonymous SNV I125T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 173580 chr9 116356248 116356248 G - rs766138775 RGS3 A18Rfs*121 0 0.005 0 0 0 2 0 0 0 0 0 0 173581 chr6 157100024 157100029 GGAGGA - rs747790383 ARID1B G327_G328del 0.006 0 0.007 3 7 0 0.008 2 0 0 0 0 173582 chr10 3181107 3181107 G A rs2279218 PITRM1 Nonsynonymous SNV P871L 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 29 173583 chr6 52871172 52871172 T G CILK1 Nonsynonymous SNV K562T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 173584 chr6 53519321 53519321 G A rs115011385 KLHL31 Synonymous SNV Y250Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.539 173585 chr9 117052534 117052534 G A rs781067963 COL27A1 Nonsynonymous SNV V1431M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 173586 chr10 32983879 32983879 T C rs966979099 CCDC7 Nonsynonymous SNV I806T 0 0.005 0 0 0 2 0 0 0 0 0 0 15.82 173587 chr10 35929828 35929828 G A FZD8 Nonsynonymous SNV P177L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.46 173588 chr9 123886284 123886284 A T rs373638859 CNTRL Nonsynonymous SNV S24C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.42 173589 chr10 47087155 47087155 G A rs560881186 NPY4R, NPY4R2 Synonymous SNV S124S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.661 173590 chr21 34927396 34927396 A C rs202027184 SON Synonymous SNV P1953P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 173591 chr10 50315764 50315764 C G rs1036917161 VSTM4 Nonsynonymous SNV R111T 0 0.008 0 0 0 3 0 0 0 0 0 0 0.469 173592 chr11 104879628 104879628 G C rs3181320 CASP5 Nonsynonymous SNV F42L 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 2.676 173593 chr11 104879700 104879700 A G rs7935132 CASP5 Synonymous SNV S18S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 0.058 173594 chrX 152710630 152710630 G A rs141078733 TREX2 Stop gain R87X 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 34 173595 chr9 125582646 125582646 C T PDCL Synonymous SNV E208E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 173596 chr2 238484068 238484068 T C rs41270747 RAB17 Nonsynonymous SNV K164R 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 19.4 173597 chr5 3600366 3600366 C A IRX1 Nonsynonymous SNV T435K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 173598 chr9 128099730 128099730 A G rs763184266 GAPVD1 Nonsynonymous SNV M892V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.943 173599 chr6 17831442 17831442 T C KIF13A Nonsynonymous SNV M431V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 173600 chr6 83843994 83843994 G A rs536203538 DOP1A Nonsynonymous SNV R944H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 173601 chr11 108381021 108381021 G A rs143520508 EXPH5 Nonsynonymous SNV T1550I 0.003 0.005 0.01 1 3 2 0.003 3 0 0 0 0 2.369 173602 chr6 84862822 84862822 A C rs577768035 CEP162 Nonsynonymous SNV I948S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.716 173603 chr6 86195033 86195033 G A rs41271617 NT5E Nonsynonymous SNV V278I 0.001 0 0.014 0 1 0 0 4 0 0 0 0 Likely benign 24.7 173604 chr2 242009486 242009486 C T rs367610382 SNED1 Synonymous SNV N1153N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.325 173605 chr6 88854279 88854279 G T rs778127844 CNR1 Nonsynonymous SNV L239M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 173606 chr6 25727187 25727187 G C rs772810602 H2BC1 Nonsynonymous SNV K17N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 173607 chr10 13699246 13699251 CTGGCG - rs780183640 FRMD4A Q478_R479del 0 0.003 0 0 0 1 0 0 0 0 0 0 173608 chr6 26027349 26027349 A G rs894162574 H4C2 Synonymous SNV V44V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.139 173609 chr10 17276720 17276720 G A rs552165238 VIM Nonsynonymous SNV R304Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 173610 chr6 28402351 28402351 A T ZSCAN23 Nonsynonymous SNV I354N 0 0 0 2 0 0 0.005 0 0 0 0 0 28.4 173611 chr11 11362458 11362458 C T rs115125023 GALNT18 Nonsynonymous SNV A396T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.8 173612 chr6 97597838 97597838 T C MMS22L Nonsynonymous SNV T898A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 173613 chr11 113851995 113851995 C T rs751173809 HTR3A Nonsynonymous SNV T112M 0.002 0.013 0 0 2 5 0 0 0 0 0 0 24.2 173614 chr10 72500863 72500863 C A rs10999500 ADAMTS14 Synonymous SNV S623S 0 0.005 0 0 0 2 0 0 0 0 0 0 16.59 173615 chr10 73491930 73491930 T A CDH23 Nonsynonymous SNV I1301N 0 0.005 0 0 0 2 0 0 0 0 0 0 31 173616 chr9 135042245 135042245 G A rs148958066 NTNG2 Synonymous SNV L9L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 9.786 173617 chr10 75855425 75855425 A C rs141033098 VCL Nonsynonymous SNV I519L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 173618 chr10 30315856 30315856 A G rs184216138 JCAD Nonsynonymous SNV I1074T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.985 173619 chr3 12616395 12616395 C T rs770685443 MKRN2 Synonymous SNV A206A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.51 173620 chr5 74009447 74009447 A G HEXB Synonymous SNV L296L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.676 173621 chr10 30728089 30728089 A C rs55962705 MAP3K8 Synonymous SNV S74S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.804 173622 chr9 136029301 136029301 C T rs75765336 GBGT1 Nonsynonymous SNV R219H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 173623 chr5 77334946 77334946 A G rs143527588 AP3B1 Synonymous SNV T861T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 9.41 173624 chr22 20920813 20920813 - CAGCAGCAGCAG rs780625319 MED15 Q191_A192insQQQQ 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 173625 chr9 137323827 137323827 G A rs762302539 RXRA Nonsynonymous SNV V277I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 173626 chr9 137716506 137716506 A G COL5A1 Nonsynonymous SNV I1587V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.83 173627 chr22 22316824 22316824 G A rs142849815 TOP3B Nonsynonymous SNV T501M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 173628 chr3 20026920 20026921 TG - PP2D1 T615Sfs*10 0.001 0 0 1 1 0 0.003 0 0 0 0 0 173629 chr6 41773828 41773828 G A rs760933424 USP49 Synonymous SNV N298N 0 0 0 2 0 0 0.005 0 0 0 0 0 3.951 173630 chr10 96014040 96014040 G A PLCE1 Nonsynonymous SNV D817N 0 0.01 0 0 0 4 0 0 0 0 0 0 24.5 173631 chr22 26194021 26194021 C T rs748284928 MYO18B Synonymous SNV V826V 0.003 0 0 0 4 0 0 0 0 0 0 0 9.412 173632 chr10 96540294 96540294 C T CYP2C19 Nonsynonymous SNV P174S 0 0.01 0 0 0 4 0 0 0 0 0 0 18.34 173633 chr10 97007123 97007123 - GGT rs751310662 PDLIM1 P178_L179insP 0 0.003 0 0 0 1 0 0 0 0 0 0 173634 chr10 97007124 97007124 - TGCTGTTCGCCTCCACCCCGCTGGCAGCAGTCTTTGACTCCAGGGCAT PDLIM1 0 0.003 0 0 0 1 0 0 0 0 0 0 173635 chr22 26886019 26886019 C T rs1006057111 SRRD Nonsynonymous SNV R207W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 173636 chr9 140130541 140130541 C T rs148095831 SLC34A3 Synonymous SNV Y491Y 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 9.548 173637 chr10 133962969 133962969 C T rs369054799 JAKMIP3 Synonymous SNV D560D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 15.11 173638 chr5 96231017 96231017 A G rs144292939 ERAP2 Nonsynonymous SNV Y353C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23.8 173639 chr7 103202327 103202327 C T rs79499902 RELN Nonsynonymous SNV V1762I 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Benign/Likely benign 20.9 173640 chr22 30640849 30640849 G A rs144658450 LIF Synonymous SNV N31N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.13 173641 chr11 1276463 1276463 C T rs958979946 MUC5B Nonsynonymous SNV P5286L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.76 173642 chr10 99770897 99770897 C T rs140331049 CRTAC1 Synonymous SNV A74A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.27 173643 chr10 61014112 61014112 G A rs148740536 FAM13C Nonsynonymous SNV T345I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.2 173644 chr22 31486997 31486997 G C rs150488604 SMTN Nonsynonymous SNV V386L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 173645 chr7 117235040 117235040 C A rs397508394 CFTR Stop gain Y849X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 38 173646 chr10 135110885 135110885 G C rs896474076 TUBGCP2 Nonsynonymous SNV L214V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.967 173647 chr10 64415230 64415230 G A rs41306564 ZNF365 Nonsynonymous SNV R77H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.906 173648 chr11 14665978 14665978 G A rs751966148 PDE3B Synonymous SNV L119L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.433 173649 chr7 126410042 126410042 T C rs761055139 GRM8 Nonsynonymous SNV M207V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.138 173650 chr6 56457044 56457044 T C rs186813964 DST Nonsynonymous SNV K1657R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.97 173651 chr6 66112383 66112383 T A EYS Nonsynonymous SNV D391V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.491 173652 chr9 35811336 35811336 G A rs375241632 SPAG8 Nonsynonymous SNV P236L 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 0.162 173653 chr3 49154938 49154938 G C rs191007588 USP19 Nonsynonymous SNV R180G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 173654 chr3 49162015 49162015 G A rs758124972 LAMB2 Nonsynonymous SNV P1047L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 13.32 173655 chr9 36065574 36065574 G A rs931400657 RECK Nonsynonymous SNV A120T 0 0.003 0 0 0 1 0 0 0 0 0 0 31 173656 chr3 49373027 49373027 T C rs202118743 USP4 Nonsynonymous SNV Y35C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 173657 chr22 38354452 38354452 C T rs534347552 POLR2F Nonsynonymous SNV R13W 0.002 0 0 0 2 0 0 0 0 0 0 0 0.206 173658 chr3 49738973 49738973 C T rs146225272 RNF123 Nonsynonymous SNV R443C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 173659 chr11 102076717 102076717 A G rs112417656 YAP1 Nonsynonymous SNV N261S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.001 173660 chr10 26849089 26849089 C T rs775177132 APBB1IP Nonsynonymous SNV T404I 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 16.19 173661 chr9 5090840 5090840 G A rs779785467 JAK2 Synonymous SNV G847G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.85 173662 chr6 79655718 79655718 T C rs201316256 PHIP Nonsynonymous SNV I1544V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.079 173663 chr6 13644958 13644958 T G RANBP9 Nonsynonymous SNV N311H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 173664 chr6 138584060 138584060 C T ARFGEF3 Synonymous SNV R480R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.7 173665 chr3 52552606 52552606 G C STAB1 Nonsynonymous SNV D1622H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 173666 chr11 103270561 103270561 A C DYNC2H1 Synonymous SNV S4109S 0.001 0.016 0 0 1 6 0 0 0 0 0 0 0.778 173667 chr6 83806762 83806762 C T rs143509807 DOP1A Synonymous SNV D22D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 173668 chr9 72874040 72874040 T G rs369707174 SMC5 Nonsynonymous SNV S16A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.825 173669 chr11 105009589 105009589 T C rs149496153 CARD18 Nonsynonymous SNV H75R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 5.135 173670 chr11 105010448 105010448 A G rs115390164 CARD18 Synonymous SNV A2A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 2.462 173671 chr22 43555366 43555366 C T rs750994845 TSPO Nonsynonymous SNV S41L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 173672 chr9 75420353 75420353 T C rs201955337 TMC1 Nonsynonymous SNV I541T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 18.34 173673 chr10 81112101 81112101 T C rs749073914 PPIF Synonymous SNV P147P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.75 173674 chr11 107501256 107501256 C A rs921789952 ELMOD1 Nonsynonymous SNV T44N 0 0.005 0 0 0 2 0 0 0 0 0 0 15.1 173675 chr11 124756516 124756516 C T ROBO4 Nonsynonymous SNV A735T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 173676 chr6 90372551 90372562 TCTTCCTCCTCA - rs376185382 MDN1 D4787_E4790del 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 173677 chr11 108032096 108032096 A G NPAT Synonymous SNV S1246S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.06 173678 chr11 108196951 108196951 C T rs200940211 ATM Nonsynonymous SNV A2325V 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 18.32 173679 chr11 108383538 108383538 A G rs17108112 EXPH5 Nonsynonymous SNV V711A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.069 173680 chr10 43292409 43292409 G T rs377531157 BMS1 Nonsynonymous SNV A573S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.564 173681 chr11 108384700 108384700 T A rs17108127 EXPH5 Nonsynonymous SNV M324L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.032 173682 chr10 44112706 44112706 T A rs374674882 ZNF485 Synonymous SNV T314T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.87 173683 chr10 91198877 91198877 C T rs141521467 SLC16A12 Nonsynonymous SNV R171Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 173684 chr3 64145697 64145697 G A rs780348941 PRICKLE2 Synonymous SNV S105S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.27 173685 chr22 50297591 50297591 G A rs12163163 ALG12 Synonymous SNV V454V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.3 173686 chr3 74419068 74419068 C G rs770931529 CNTN3 Nonsynonymous SNV V245L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 173687 chr11 44297097 44297097 C T rs201303900 ALX4 Nonsynonymous SNV R193Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28 173688 chr22 50656734 50656734 G A rs139368772 TUBGCP6 Synonymous SNV I1684I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.63 173689 chr22 50660211 50660211 G A rs111807461 TUBGCP6 Synonymous SNV N859N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.646 173690 chr11 134241654 134241654 C T rs143947351 GLB1L2 Synonymous SNV T479T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.3 173691 chr7 150839330 150839330 C T rs201520383 AGAP3 Synonymous SNV C349C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.45 173692 chr10 50856643 50856643 C T rs76014951 CHAT Nonsynonymous SNV L340F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26 173693 chr6 161582289 161582289 - C rs200715060 AGPAT4-IT1 0 0 0.017 0 0 0 0 5 0 0 0 0 173694 chr7 151478322 151478322 G A PRKAG2 Nonsynonymous SNV R84C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 173695 chrX 107829907 107829907 G C rs2272945 COL4A5 Synonymous SNV G365G 0.007 0.003 0.007 1 8 1 0.003 2 2 0 0 0 Benign 5.81 173696 chrX 107834453 107834453 T G rs2272946 COL4A5 Nonsynonymous SNV I444S 0.007 0.003 0.007 1 8 1 0.003 2 2 0 0 0 Benign 8.364 173697 chr6 16328268 16328268 C T rs200659914 ATXN1 Nonsynonymous SNV A92T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.023 173698 chrX 107845128 107845128 T C rs7884085 COL4A5 Synonymous SNV L685L 0.007 0.003 0.007 1 8 1 0.003 2 2 0 0 0 Benign 4.099 173699 chrX 107850076 107850076 G A rs3747408 COL4A5 Synonymous SNV P783P 0.007 0.003 0.007 1 8 1 0.003 2 2 0 0 0 Benign 15.33 173700 chrX 107909784 107909784 A G rs2273051 COL4A5 Synonymous SNV Q1171Q 0.008 0.003 0.007 1 9 1 0.003 2 2 0 0 0 Benign 6.314 173701 chrX 107929337 107929337 C T rs61746140 COL4A5 Synonymous SNV D1425D 0.007 0.003 0.007 1 8 1 0.003 2 2 0 0 0 Benign 15.17 173702 chrX 109695066 109695066 T C rs4314820 RTL9 Synonymous SNV D407D 0.003 0.003 0 0 4 1 0 0 1 0 0 0 0.002 173703 chrX 109695355 109695355 G A rs34877837 RTL9 Nonsynonymous SNV A504T 0.003 0.003 0 0 4 1 0 0 1 0 0 0 17.21 173704 chrX 109695418 109695418 A C rs35653272 RTL9 Nonsynonymous SNV M525L 0.003 0.003 0 0 4 1 0 0 1 0 0 0 0.016 173705 chrX 109696174 109696174 C T rs35495390 RTL9 Nonsynonymous SNV P777S 0.003 0.003 0 0 4 1 0 0 1 0 0 0 0.003 173706 chrX 109696701 109696701 A G rs142122068 RTL9 Synonymous SNV P952P 0.003 0.003 0 0 4 1 0 0 1 0 0 0 0.081 173707 chr3 102196328 102196328 A C rs144126454 ZPLD1 Nonsynonymous SNV S388R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.1 173708 chr6 167728683 167728683 G A rs772759538 UNC93A Nonsynonymous SNV G331S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 173709 chr11 48181486 48181486 A G PTPRJ Nonsynonymous SNV K1148R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 173710 chr6 170594082 170594082 G A DLL1 Nonsynonymous SNV R392C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 173711 chr6 170870965 170870965 T C rs554594365 TBP Synonymous SNV N27N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.434 173712 chr7 158449091 158449091 T C rs199564693 NCAPG2 Nonsynonymous SNV H750R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Uncertain significance 6.716 173713 chr6 2623773 2623773 G A rs145540374 LINC01600 0 0 0.007 0 0 0 0 2 0 0 0 0 12.47 173714 chr7 2354042 2354042 C T SNX8 Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 173715 chrX 150869110 150869110 T C rs375885163 PRRG3 Nonsynonymous SNV W101R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.3 173716 chr6 35201074 35201074 C T rs759121691 SCUBE3 Synonymous SNV C235C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 173717 chr6 36653529 36653529 T C rs751490716 CDKN1A Synonymous SNV D149D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 173718 chr11 107381616 107381616 T C ALKBH8 Synonymous SNV T481T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.519 173719 chr6 4069118 4069118 T G FAM217A Nonsynonymous SNV I447L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 173720 chr7 4002355 4002355 G A rs202020244 SDK1 Nonsynonymous SNV R434Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29 173721 chr6 41739099 41739099 G A rs764525337 FRS3 Nonsynonymous SNV P246L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 173722 chr7 4201448 4201448 C T rs145500628 SDK1 Nonsynonymous SNV A74V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.394 173723 chr11 35456348 35456348 G A rs150412568 PAMR1 Synonymous SNV C335C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.946 173724 chr7 42187988 42187988 G T rs779596577 GLI3 Synonymous SNV L68L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.946 173725 chr10 90673187 90673187 G A rs17850686 STAMBPL1 Synonymous SNV T250T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 15.1 173726 chr11 381733 381733 T A rs776625364 B4GALNT4 Nonsynonymous SNV S1021T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 173727 chr11 111656807 111656807 C T rs781928817 ALG9 Nonsynonymous SNV A444T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 14.66 173728 chr6 43021528 43021537 GGCAGCCACT - CUL7 V21Tfs*54 0 0 0.003 0 0 0 0 1 0 0 0 0 173729 chr3 132218017 132218017 A G rs772378977 DNAJC13 Nonsynonymous SNV I1402V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.9 173730 chr3 132298245 132298245 G C rs544052072 NPHP3-ACAD11 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.278 173731 chr11 20177805 20177805 C T rs147705838 DBX1 Synonymous SNV E329E 0 0.008 0 0 0 3 0 0 0 0 0 0 19.09 173732 chr11 46637242 46637242 A C HARBI1 Nonsynonymous SNV I182M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 173733 chr11 47609698 47609698 C T FAM180B Synonymous SNV H76H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.71 173734 chr3 141497496 141497496 C T GRK7 Nonsynonymous SNV P124S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 173735 chr11 2424740 2424740 G C TSSC4 Nonsynonymous SNV V293L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.34 173736 chr7 5104251 5104251 C G rs199929265 RBAK Synonymous SNV L388L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.885 173737 chr7 5112637 5112637 C T RBAKDN 0.001 0 0 0 1 0 0 0 0 0 0 0 6.778 173738 chr6 54214618 54214618 C T rs139989527 TINAG Nonsynonymous SNV T335M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 173739 chr7 5428018 5428018 G A rs747229535 TNRC18 Synonymous SNV P479P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 173740 chr11 119210189 119210189 - C rs369839371 C1QTNF5 Frameshift insertion A195Gfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 173741 chr7 5529706 5529706 C T rs748155336 FBXL18 Nonsynonymous SNV R713Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.508 173742 chr11 33604900 33604900 G A rs377062292 KIAA1549L Synonymous SNV P1473P 0 0.008 0.003 0 0 3 0 1 0 0 0 0 2.462 173743 chr10 116050058 116050058 G C rs45560935 VWA2 Nonsynonymous SNV V728L 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign 3.576 173744 chr11 56127764 56127764 T C rs139752691 OR8J1 Synonymous SNV L14L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.026 173745 chr11 36472848 36472848 C T rs146314054 PRR5L Synonymous SNV S97S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.26 173746 chr6 75890670 75890670 C G COL12A1 Nonsynonymous SNV E717Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 173747 chr6 75890818 75890818 C T rs775499126 COL12A1 Synonymous SNV K667K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 173748 chr11 36595760 36595760 C A rs4151030 RAG1 Nonsynonymous SNV D302E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.7 173749 chr11 36614841 36614841 T C rs16929093 RAG2 Nonsynonymous SNV E293G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 11.18 173750 chr6 79692712 79692712 G A PHIP Nonsynonymous SNV S887F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 173751 chr11 420983 420983 C G rs138183770 ANO9 Synonymous SNV L340L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.768 173752 chr6 90402385 90402385 T C MDN1 Nonsynonymous SNV H3455R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.995 173753 chr11 124524561 124524561 C A SIAE Nonsynonymous SNV K178N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.64 173754 chr3 186334986 186334986 G C rs761843421 AHSG Nonsynonymous SNV E141D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 173755 chr10 126715970 126715970 A T rs145765785 CTBP2 Nonsynonymous SNV V120E 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.215 173756 chr11 55339880 55339880 A C rs753182024 OR4C16 Nonsynonymous SNV S93R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.459 173757 chr7 99752751 99752751 G A rs374129001 MAP11 Synonymous SNV P273P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.327 173758 chr7 100550851 100550851 G A rs113108647 MUC3A Nonsynonymous SNV E478K 0 0 0.075 0 0 0 0 22 0 0 0 0 5.242 173759 chr7 23293856 23293856 G A rs756663981 GPNMB Nonsynonymous SNV V98M 0.001 0 0 5 1 0 0.013 0 0 0 0 0 31 173760 chr8 104341941 104341941 A C rs764786532 FZD6 Nonsynonymous SNV N229H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 173761 chr3 195594583 195594583 G C TNK2 Nonsynonymous SNV I879M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.7 173762 chr11 17388556 17388556 C G NCR3LG1 Nonsynonymous SNV A141G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.43 173763 chr11 18319119 18319119 G C HPS5 Nonsynonymous SNV S323C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.8 173764 chr7 29980325 29980325 C T SCRN1 Nonsynonymous SNV G170S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 173765 chr8 110566120 110566120 G A EBAG9 Nonsynonymous SNV G37E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 173766 chr8 110592092 110592092 G T rs200496471 SYBU Nonsynonymous SNV P94T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.3 173767 chr11 116661392 116661392 C A rs2075291 APOA5 Nonsynonymous SNV G185C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 risk factor 24.5 173768 chr11 117163823 117163823 T C rs145565779 BACE1 Nonsynonymous SNV I163V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.72 173769 chr4 1803208 1803208 C A rs767900565 FGFR3 Nonsynonymous SNV S187Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.27 173770 chr8 124267788 124267788 C T rs180694739 ZHX1 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.169 173771 chr7 107708559 107708559 C T rs761981720 LAMB4 Nonsynonymous SNV R783Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 173772 chr7 108112902 108112902 A G rs141467024 PNPLA8 Synonymous SNV D764D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.355 173773 chr4 4861716 4861716 C A rs927420896 MSX1 Synonymous SNV G30G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 173774 chr7 116593241 116593241 T C rs73473260 ST7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.103 173775 chr10 17363226 17363226 A G ST8SIA6 Nonsynonymous SNV V283A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.46 173776 chr7 117874919 117874919 G T rs539928890 ANKRD7 Synonymous SNV A153A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.265 173777 chr11 12379909 12379909 T A rs373689328 MICALCL Synonymous SNV I657I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.4 173778 chr11 33581375 33581375 C T rs763535300 KIAA1549L Synonymous SNV T1312T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.23 173779 chr8 139626111 139626111 G A rs202129460 COL22A1 Nonsynonymous SNV P1326L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 173780 chr10 27294592 27294592 T A rs373138646 ANKRD26 Nonsynonymous SNV N1686I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.2 173781 chr7 127970930 127970930 C G rs758188560 RBM28 Nonsynonymous SNV Q216H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 173782 chr11 36596275 36596275 G A rs199474686 RAG1 Nonsynonymous SNV R474H 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 28.8 173783 chr10 28438951 28438951 G A rs141840017 MPP7 Nonsynonymous SNV P65L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 173784 chr10 29751241 29751241 C T SVIL Nonsynonymous SNV E1697K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 173785 chr4 36230467 36230467 A G rs546545701 ARAP2 Synonymous SNV S214S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.034 173786 chr11 126135272 126135272 C T rs751205736 SRPRA Nonsynonymous SNV R373H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 173787 chr8 144790033 144790033 G A CCDC166 Nonsynonymous SNV R83C 0.002 0 0 0 2 0 0 0 0 0 0 0 27 173788 chr7 7472140 7472140 C G rs115295026 COL28A1 Synonymous SNV P654P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.84 173789 chr7 7495692 7495692 C A rs115462979 COL28A1 Nonsynonymous SNV G452W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 173790 chr11 65404039 65404039 C T rs773085193 PCNX3 Nonsynonymous SNV P1924L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 173791 chr11 601610 601610 C T rs190917929 PHRF1 Nonsynonymous SNV P354L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.898 173792 chr8 145113500 145113500 T C OPLAH Nonsynonymous SNV I228V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.261 173793 chr10 50178324 50178324 G A rs760599206 WDFY4 Nonsynonymous SNV R2973H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.89 173794 chr4 42145806 42145806 T C rs146288414 BEND4 Nonsynonymous SNV I231M 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.035 173795 chr11 60637890 60637890 G C ZP1 Nonsynonymous SNV Q256H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 10.04 173796 chr7 88964765 88964765 G A rs148990105 ZNF804B Synonymous SNV T823T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.694 173797 chr7 88965879 88965879 G A rs801841 ZNF804B Nonsynonymous SNV V1195I 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.028 173798 chr8 145665463 145665463 G C TONSL Nonsynonymous SNV A474G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.19 173799 chr7 150706321 150706321 C T rs138716215 NOS3 Nonsynonymous SNV R764C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.8 173800 chr11 61291354 61291354 G A rs773862270 SYT7 Synonymous SNV I380I 0.006 0.003 0 0 7 1 0 0 0 0 0 0 17.34 173801 chr11 61548492 61548492 A G rs146361526 MYRF Synonymous SNV P814P 0.006 0.003 0 0 7 1 0 0 0 0 0 0 3.168 173802 chr7 1523433 1523433 C A INTS1 Nonsynonymous SNV M1162I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 173803 chr4 57244580 57244580 C T rs148847166 AASDH Synonymous SNV V34V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.277 173804 chr11 62601113 62601113 A G WDR74 Synonymous SNV L333L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.35 173805 chr11 57193582 57193582 C A SLC43A3 Nonsynonymous SNV G22C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 173806 chr7 20421499 20421499 G T rs61733924 ITGB8 Synonymous SNV S317S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.411 173807 chr8 100829963 100829963 G A rs750963582 VPS13B Nonsynonymous SNV G2790R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 173808 chr11 58034668 58034668 C T rs141451642 OR10W1 Synonymous SNV S221S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.53 173809 chr8 101016292 101016292 G A rs199671653 RGS22 Nonsynonymous SNV S649L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 173810 chr4 71201477 71201477 G A rs540614090 CABS1 Nonsynonymous SNV E241K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.912 173811 chr10 73492096 73492096 C G rs143136329 CDH23 Synonymous SNV T1356T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.854 173812 chr8 2063780 2063780 C G MYOM2 Nonsynonymous SNV T1070S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 173813 chr7 22478122 22478122 T C rs374288474 STEAP1B Nonsynonymous SNV I339V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.145 173814 chr4 72120977 72120977 T C rs188304864 SLC4A4 Synonymous SNV S38S 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 6.419 173815 chr7 23625576 23625576 T C rs1035471990 CLK2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.409 173816 chr7 2395043 2395043 G C rs78680793 EIF3B Nonsynonymous SNV V163L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.38 173817 chr10 75053139 75053139 G A rs550762173 CFAP70 Nonsynonymous SNV P429L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.13 173818 chr4 74442373 74442373 C A rs145420998 RASSF6 Nonsynonymous SNV R232L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 173819 chr11 58892377 58892377 A - rs768272759 FAM111B A243Hfs*26 0 0.008 0 0 0 3 0 0 0 0 0 0 173820 chr11 5424746 5424746 G A rs747308599 OR51J1 Nonsynonymous SNV R307Q 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 10.72 173821 chr7 2689593 2689593 T A rs145168154 TTYH3 Nonsynonymous SNV M281K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 173822 chr7 2698634 2698634 G A rs12672030 TTYH3 Synonymous SNV E495E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 173823 chr7 27192564 27192564 C T rs946341227 HOXA-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 9.177 173824 chr4 77304841 77304841 T A CCDC158 Nonsynonymous SNV E259D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.1 173825 chr8 24774791 24774791 G A rs61528354 NEFM Nonsynonymous SNV A99T 0.007 0 0.003 0 8 0 0 1 0 0 0 0 not provided 18.04 173826 chr7 3180709 3180709 G A rs147230905 LOC100129603 0 0 0.014 0 0 0 0 4 0 0 0 0 3.099 173827 chr4 81952551 81952551 G T rs555369050 BMP3 Nonsynonymous SNV G38V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.82 173828 chr7 36661364 36661364 C T rs373491776 AOAH Nonsynonymous SNV R170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 173829 chr10 74810888 74810888 T C rs199578864 P4HA1 Nonsynonymous SNV K275E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.5 173830 chr7 39649306 39649306 C G rs990947697 YAE1 Synonymous SNV V114V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.878 173831 chr11 61687631 61687631 C T rs61746662 RAB3IL1 Nonsynonymous SNV A12T 0 0.016 0 0 0 6 0 0 0 0 0 0 12.75 173832 chr7 4247792 4247792 C G rs374134751 SDK1 Nonsynonymous SNV P246R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 173833 chr11 61906216 61906216 G A rs61751226 INCENP Nonsynonymous SNV E383K 0 0.016 0 0 0 6 0 0 0 0 0 0 Benign 7.767 173834 chr7 43484267 43484267 G A rs112942689 HECW1 Nonsynonymous SNV R499K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.266 173835 chr7 43843296 43843296 G A rs146795036 BLVRA Nonsynonymous SNV R161Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 173836 chr7 43916413 43916413 G A rs61732517 URGCP Synonymous SNV H874H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.846 173837 chr7 43916782 43916782 G A rs2232107 URGCP Synonymous SNV A751A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.58 173838 chr7 43917334 43917334 C T rs2232101 URGCP Synonymous SNV R567R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.809 173839 chr7 43982165 43982165 G A rs150712522 POLR2J4 0 0 0.003 0 0 0 0 1 0 0 0 0 3.796 173840 chr11 63531221 63531232 GGAGGCGGGGGA - rs753364149 C11orf95 P569_P572del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 173841 chr11 637443 637443 G A rs374359731 DRD4 Nonsynonymous SNV A47T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 173842 chr8 56015513 56015513 C T XKR4 Synonymous SNV G155G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.56 173843 chr8 56698935 56698935 A G rs3213971 TGS1 Nonsynonymous SNV I67V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.001 173844 chr7 48378029 48378029 T A rs183358970 ABCA13 Nonsynonymous SNV L3394H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 173845 chr11 64072187 64072187 C T rs542083860 KCNK4-TEX40 0 0.016 0 0 0 6 0 0 0 0 0 0 9.019 173846 chr7 51096819 51096819 C T rs140856856 COBL Synonymous SNV E658E 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 3.328 173847 chr11 92624235 92624235 C T rs187159256 FAT3 Nonsynonymous SNV L4544F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 173848 chr7 54827015 54827015 C G LOC100996654 0 0 0.003 0 0 0 0 1 0 0 0 0 6.556 173849 chr11 9494245 9494245 T C rs142601750 ZNF143 Nonsynonymous SNV M45T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 173850 chr11 720836 720836 C G EPS8L2 Nonsynonymous SNV L162V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 173851 chr8 144464024 144464024 G T rs762150096 RHPN1 Nonsynonymous SNV Q561H 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 173852 chr8 144523228 144523228 G A rs767172768 ZC3H3 Synonymous SNV G790G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.15 173853 chr11 95724855 95724855 G A rs374757612 MAML2 Synonymous SNV G724G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.26 173854 chr7 66104003 66104003 C T rs117194263 KCTD7 Synonymous SNV D218D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 12.68 173855 chr7 70597806 70597806 A C GALNT17 Nonsynonymous SNV R6S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 173856 chr4 123095797 123095797 A G rs199640893 KIAA1109 Nonsynonymous SNV M95V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.2 173857 chr12 101693596 101693596 G A rs139131985 UTP20 Nonsynonymous SNV V523M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25.7 173858 chr12 101777015 101777015 C T rs768524022 UTP20 Nonsynonymous SNV T2618M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 173859 chr11 65767795 65767795 G A rs745828894 EIF1AD Synonymous SNV S22S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 173860 chr8 144943636 144943636 G A rs370868963 EPPK1 Synonymous SNV I1262I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.714 173861 chr7 76916778 76916778 A G CCDC146 Nonsynonymous SNV K767E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 173862 chr8 99142453 99142453 A T rs761289283 POP1 Nonsynonymous SNV Q245L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 173863 chr7 80303323 80303323 G T rs201527696 CD36 Nonsynonymous SNV A388S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 25.6 173864 chr8 145008497 145008497 G C rs201667254 PLEC Nonsynonymous SNV S372R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 173865 chr12 105425577 105425577 C G ALDH1L2 Nonsynonymous SNV V794L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.7 173866 chr4 140439040 140439040 T C rs765989296 SETD7 Nonsynonymous SNV I307V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 173867 chr8 145165866 145165866 C T rs770882178 WDR97 Synonymous SNV H757H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.367 173868 chr11 66638812 66638812 - CCA PC V153_E154insV 0 0.008 0 0 0 3 0 0 0 0 0 0 173869 chr9 103334868 103334868 G A rs371831122 MSANTD3-TMEFF1, TMEFF1 Nonsynonymous SNV S397N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 173870 chr8 145741686 145741686 C T rs34103564 RECQL4 Nonsynonymous SNV A273T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.247 173871 chr4 152200948 152200948 T A rs778862552 PRSS48 Nonsynonymous SNV V18E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 173872 chr11 68382121 68382121 C T rs1026395624 PPP6R3 Synonymous SNV L784L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.774 173873 chr7 99273767 99273767 A T rs748355697 CYP3A5 Nonsynonymous SNV L46M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.66 173874 chr4 155412491 155412491 C T DCHS2 Nonsynonymous SNV R6Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 173875 chr11 108205998 108205998 T A rs1024344703 C11orf65 Nonsynonymous SNV K239I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.94 173876 chr12 110924363 110924363 G A rs146368046 FAM216A Nonsynonymous SNV R154H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 16.88 173877 chr8 1950115 1950115 G T KBTBD11 Nonsynonymous SNV D253Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 173878 chr11 62373393 62373393 C T EML3 Synonymous SNV L573L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.91 173879 chr11 94194110 94194110 C T rs773469981 MRE11 Nonsynonymous SNV A440T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.7 173880 chr11 73105533 73105533 C T rs148007314 RELT Nonsynonymous SNV A267V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.379 173881 chr12 11420647 11420647 T C rs78040729 PRB3 Nonsynonymous SNV H179R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.001 173882 chr11 99932010 99932010 A T rs186615197 CNTN5 Nonsynonymous SNV K275N 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 23.8 173883 chr12 120139496 120139496 G A CIT Synonymous SNV S1783S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.56 173884 chr8 26252778 26252778 T A BNIP3L Nonsynonymous SNV F66Y 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 25.7 173885 chr4 185697767 185697767 T C rs112358311 ACSL1 Synonymous SNV L175L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 8.304 173886 chr4 186068049 186068049 C - SLC25A4 W275Gfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 173887 chr11 77937767 77937767 C T rs140958634 GAB2 Synonymous SNV P279P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.3 173888 chr11 64756703 64756703 T A rs371465439 BATF2 Nonsynonymous SNV K217N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.734 173889 chr8 131020633 131020633 G C rs756101683 MIR5194 0 0 0.003 0 0 0 0 1 0 0 0 0 0.232 173890 chr8 33347834 33347834 G A rs373664720 MAK16 Nonsynonymous SNV E142K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.8 173891 chr11 8115702 8115702 C T rs371754344 TUB Synonymous SNV G121G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.05 173892 chr8 136659279 136659279 G A rs201329239 KHDRBS3 Synonymous SNV A331A 0 0.008 0.003 0 0 3 0 1 0 0 0 0 3.667 173893 chr11 6555276 6555276 C T rs769036305 DNHD1 Synonymous SNV S957S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 14.12 173894 chr12 110293490 110293490 G A rs76870414 GLTP Synonymous SNV N127N 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Benign 13.22 173895 chr12 128899680 128899680 C T rs780715998 TMEM132C Synonymous SNV A163A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.83 173896 chr9 12775861 12775861 - GGTGGCGGCGGC LURAP1L G55_C56insGGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 173897 chr12 110924375 110924375 G A rs77563856 FAM216A Nonsynonymous SNV R158H 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.9 173898 chr8 41655043 41655043 A C ANK1 Nonsynonymous SNV V5G 0 0 0 2 0 0 0.005 0 0 0 0 0 7.34 173899 chr12 129285496 129285496 G A rs149497931 SLC15A4 Synonymous SNV I439I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.489 173900 chr8 61754539 61754539 G A rs766632082 CHD7 Nonsynonymous SNV R1593H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 31 173901 chr9 130551666 130551666 C T rs780095447 CDK9 Synonymous SNV P321P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.56 173902 chr8 623547 623547 C G rs142833649 ERICH1 Nonsynonymous SNV A269P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.922 173903 chr8 144297206 144297206 G A rs201685731 GPIHBP1 Nonsynonymous SNV G123E 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 17.35 173904 chr5 14363982 14363982 G A rs149099057 TRIO Nonsynonymous SNV V845I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 173905 chr8 144462943 144462943 G A rs35113789 RHPN1 Synonymous SNV P467P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 1.642 173906 chr11 124793851 124793851 G A HEPACAM Synonymous SNV S161S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.93 173907 chr12 133502018 133502018 C T rs777112914 ZNF605 Nonsynonymous SNV G654R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.4 173908 chr11 124946729 124946729 G A rs148933416 SLC37A2 Nonsynonymous SNV V46I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.8 173909 chr11 66625951 66625951 C T LRFN4 Nonsynonymous SNV R246W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 173910 chr9 131599096 131599096 G A rs774308105 KYAT1 Stop gain Q175X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 173911 chr8 144672143 144672143 C A rs144264495 EEF1D Nonsynonymous SNV A37S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.8 173912 chr8 144810574 144810574 C T rs368475752 FAM83H Nonsynonymous SNV A353T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 173913 chr5 34024051 34024051 G C C1QTNF3 Nonsynonymous SNV L182V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 26.4 173914 chr11 9990064 9990064 T C rs199894823 SBF2 Nonsynonymous SNV Q475R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 25.8 173915 chr11 6816461 6816461 A T rs776672935 OR6A2 Nonsynonymous SNV I160N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.5 173916 chr5 37001128 37001128 C T rs767920646 NIPBL Synonymous SNV A1204A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 14.08 173917 chr12 102028347 102028347 C T MYBPC1 Nonsynonymous SNV T140I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.4 173918 chr12 122734569 122734569 C T rs2277335 VPS33A Synonymous SNV R197R 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 14.6 173919 chr12 123061517 123061517 A G rs777090601 KNTC1 Nonsynonymous SNV M888V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.56 173920 chr8 95182743 95182743 G A rs145434915 CDH17 Synonymous SNV Y316Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 173921 chr12 124235735 124235735 T C rs367950442 ATP6V0A2 Synonymous SNV L672L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.084 173922 chr5 52781516 52781516 G A rs770093272 FST 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 10.1 173923 chr12 124325931 124325931 C T rs112230512 DNAH10 Synonymous SNV S1615S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.2 173924 chr11 726389 726389 C T rs749972188 EPS8L2 Synonymous SNV R613R 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 21.4 173925 chr9 138683968 138683968 G A rs556454353 KCNT1 Synonymous SNV S1199S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.174 173926 chr5 54931414 54931414 A G rs772835868 SLC38A9 Synonymous SNV A350A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.996 173927 chr5 54931445 54931445 G A rs765046146 SLC38A9 Nonsynonymous SNV T340I 0 0 0 1 0 0 0.003 0 0 0 0 0 26 173928 chr8 17478576 17478576 C T rs35294054 PDGFRL Nonsynonymous SNV R124C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 173929 chr9 139734158 139734158 G A rs748117854 RABL6 Nonsynonymous SNV V592M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 173930 chr12 112746608 112746608 G A rs781321572 HECTD4 Synonymous SNV F371F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.06 173931 chr5 71616244 71616244 C G rs750793419 PTCD2 Nonsynonymous SNV P12R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.932 173932 chr12 113327849 113327849 C T rs138056234 RPH3A Synonymous SNV T461T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 9.196 173933 chr9 140094555 140094555 G A rs546101231 TPRN Synonymous SNV N203N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.532 173934 chr8 22478964 22478964 G T BIN3 Synonymous SNV R197R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 173935 chr9 111870787 111870787 G A rs137891902 TMEM245 Nonsynonymous SNV R215C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 173936 chr12 48543173 48543173 C T rs748640201 ASB8 Synonymous SNV K281K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.17 173937 chr8 24254813 24254813 C A ADAMDEC1 Stop gain Y78X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 173938 chr12 113638419 113638419 A G rs1048180414 IQCD Nonsynonymous SNV M310T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.71 173939 chr11 8751577 8751577 A G rs200801002 ST5 Synonymous SNV P420P 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Benign 2.584 173940 chr8 28928130 28928130 C T rs560613937 KIF13B Nonsynonymous SNV S1791N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 173941 chr12 120650373 120650373 G A rs764009263 PXN Nonsynonymous SNV T521M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 173942 chr8 29996053 29996053 A G rs764934292 MBOAT4 Synonymous SNV S113S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 173943 chr12 121017395 121017395 T C rs758148350 POP5 Nonsynonymous SNV I57V 0 0.005 0 0 0 2 0 0 0 0 0 0 26.1 173944 chr8 30038095 30038095 G A rs143943390 DCTN6 Synonymous SNV T141T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.46 173945 chr12 121205353 121205353 C T rs776368225 SPPL3 Nonsynonymous SNV V273I 0 0.005 0 0 0 2 0 0 0 0 0 0 33 173946 chr12 121432123 121432123 C G rs779008957 HNF1A Synonymous SNV P290P 0 0.005 0 0 0 2 0 0 0 0 0 0 3.663 173947 chr11 64527271 64527271 G A rs531748591 PYGM Nonsynonymous SNV R34W 0.005 0.005 0 0 6 2 0 0 0 0 0 0 35 173948 chr12 122260972 122260972 C T SETD1B Nonsynonymous SNV A1496V 0 0.005 0 0 0 2 0 0 0 0 0 0 15.94 173949 chr11 64601768 64601768 G A rs200681565 CDC42BPG Nonsynonymous SNV R795W 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 28.2 173950 chr11 64665888 64665888 - A rs750271831 MIR6750 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 173951 chr8 38677242 38677242 G A rs16887780 TACC1 Synonymous SNV T160T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.235 173952 chr11 36522970 36522970 T A TRAF6 Nonsynonymous SNV K32N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.43 173953 chr11 36595205 36595205 T - RAG1 F118Lfs*21 0.003 0.003 0 0 3 1 0 0 0 0 0 0 173954 chr12 100774548 100774548 G A rs11110359 SLC17A8 Synonymous SNV T57T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.042 173955 chr9 35738141 35738141 A T GBA2 Nonsynonymous SNV Y736N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 173956 chr12 124268614 124268614 G A rs1051384753 DNAH10 Nonsynonymous SNV D374N 0 0.005 0 0 0 2 0 0 0 0 0 0 5.978 173957 chr8 55541819 55541819 C T rs143088423 RP1 Nonsynonymous SNV P1793S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 3.046 173958 chr8 57025652 57025652 G A MOS Nonsynonymous SNV P297L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 173959 chr12 125263084 125263084 G A rs10396214 SCARB1 Nonsynonymous SNV R418W 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 9.78 173960 chr12 103352145 103352145 A G rs558732328 ASCL1 Synonymous SNV A41A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 0.034 173961 chr9 396872 396872 A G rs151094543 DOCK8 Nonsynonymous SNV I920V 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.3 173962 chr11 65661554 65661554 G A rs149112693 FOSL1 Stop gain R111X 0.004 0.005 0 0 5 2 0 0 0 0 0 0 15.29 173963 chr12 53184014 53184014 C G rs764554987 KRT3 Nonsynonymous SNV G567R 0 0.005 0 0 0 2 0 0 0 0 0 0 19.22 173964 chr12 53469562 53469562 G A rs146468353 SPRYD3 Synonymous SNV Y68Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 173965 chr11 66453553 66453553 C T rs757727990 SPTBN2 Nonsynonymous SNV R2321Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24.4 173966 chr9 130486483 130486483 G A TTC16 Synonymous SNV Q306Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.711 173967 chr8 8748250 8748250 G A rs779243826 MFHAS1 Synonymous SNV S773S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 173968 chr11 66472373 66472373 G T rs267603133 SPTBN2 Nonsynonymous SNV L792M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24.3 173969 chr5 112868579 112868579 C T rs145317985 YTHDC2 Nonsynonymous SNV P65S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 173970 chr8 87660106 87660106 C T rs144637286 CNGB3 Nonsynonymous SNV A305T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 173971 chr11 67007702 67007702 T C KDM2A Synonymous SNV N8N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.32 173972 chr12 133698165 133698165 C G rs148080897 ZNF891 Nonsynonymous SNV D114H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 21.1 173973 chr5 118728942 118728942 G C rs777073356 TNFAIP8 Nonsynonymous SNV V145L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.95 173974 chr12 55688172 55688172 A C rs144371844 OR6C6 Stop gain L282X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 173975 chr12 1895230 1895230 G T rs139431821 ADIPOR2 Nonsynonymous SNV A385S 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 9.746 173976 chr11 68854047 68854047 A G rs150476703 TPCN2 Nonsynonymous SNV N687S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 22.5 173977 chr12 52708474 52708474 G A rs200232339 KRT83 Nonsynonymous SNV P475S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.16 173978 chr12 52760925 52760925 C T rs150836526 KRT85 Nonsynonymous SNV G89R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 173979 chr9 107583723 107583723 G A rs375095390 ABCA1 Nonsynonymous SNV R965C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 173980 chr9 94842338 94842338 G A rs141265918 SPTLC1 Synonymous SNV G129G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.23 173981 chr12 113704122 113704122 C T rs773304969 TPCN1 Synonymous SNV C57C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.79 173982 chr9 95237027 95237027 - TCATCATCATCA ASPN 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 173983 chr12 25158199 25158199 G A rs190688433 LOC645177 Nonsynonymous SNV G200D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 4.528 173984 chr12 57485407 57485407 G A rs145415310 NAB2 Nonsynonymous SNV V195I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.95 173985 chr12 52824404 52824404 A T rs143063572 KRT75 Nonsynonymous SNV I319N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 173986 chr5 135276805 135276805 C G rs758208952 FBXL21P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.694 173987 chr12 52825839 52825839 T C rs2232393 KRT75 Nonsynonymous SNV E242G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 173988 chr5 135692608 135692608 C T rs368106013 TRPC7 Synonymous SNV E156E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 173989 chr12 27110671 27110671 T C FGFR1OP2 Nonsynonymous SNV S131P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 26.5 173990 chr9 113169175 113169175 G A rs199967982 SVEP1 Nonsynonymous SNV T2902M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.645 173991 chr5 137688535 137688535 C T rs982397094 KDM3B Synonymous SNV F17F 0 0 0 2 0 0 0.005 0 0 0 0 1 14.21 173992 chr9 114348368 114348368 A G PTGR1 Nonsynonymous SNV I96T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 173993 chr12 53298794 53298794 C T rs771819471 KRT8 Nonsynonymous SNV G19D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.26 173994 chr5 140236663 140236663 G C rs782160195 PCDHA10 Nonsynonymous SNV D344H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 173995 chrX 10422960 10422960 A G rs768522341 MID1 Synonymous SNV F535F 0.008 0 0 0 9 0 0 0 2 0 0 0 Likely benign 1.492 173996 chr5 141233796 141233796 C A rs150144330 PCDH1 Synonymous SNV P1175P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.32 173997 chr12 55615590 55615590 G A rs376446425 OR10A7 Nonsynonymous SNV R261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.449 173998 chr12 124857101 124857101 G A rs771509251 NCOR2 Synonymous SNV A740A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.158 173999 chr9 124929125 124929125 C T rs76168473 MORN5 Synonymous SNV G42G 0.009 0.008 0.02 4 10 3 0.01 6 0 0 0 0 13.16 174000 chr9 139333089 139333089 C T rs374720993 INPP5E Synonymous SNV A261A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.93 174001 chr12 7045909 7045909 - CAGCAGCAG ATN1 Q502_H503insQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 174002 chrX 152159243 152159243 G A rs141321283 PNMA5 Synonymous SNV P300P 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 4.879 174003 chrX 152159456 152159456 G A rs16996773 PNMA5 Synonymous SNV D229D 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 2.9 174004 chrX 152585494 152585494 T G rs77551644 PNMA6F Synonymous SNV G213G 0.002 0 0 0 2 0 0 0 1 0 0 0 4.88 174005 chrX 152710658 152710658 G A rs80034208 TREX2 Synonymous SNV I77I 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 10.18 174006 chrX 152770209 152770209 A G rs34441665 BGN Synonymous SNV E40E 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.094 174007 chrX 152814198 152814198 G A rs76234948 ATP2B3 Synonymous SNV P408P 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 5.449 174008 chr12 49375166 49375166 C T rs771506883 WNT1 Nonsynonymous SNV P286S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.1 174009 chrX 153055212 153055212 G A rs75619922 IDH3G Nonsynonymous SNV R101C 0.003 0 0 0 3 0 0 0 1 0 0 0 33 174010 chr12 49433715 49433715 G A rs751270731 KMT2D Nonsynonymous SNV P2613L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.5 174011 chrX 153135647 153135647 G A rs1042512 L1CAM Synonymous SNV A280A 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 8.225 174012 chr12 49434829 49434829 C T KMT2D Nonsynonymous SNV D2242N 0 0.005 0 0 0 2 0 0 0 0 0 0 23.9 174013 chrX 153208488 153208488 T C rs2229241 RENBP Nonsynonymous SNV Q169R 0.003 0 0 0 4 0 0 0 1 0 0 0 0.003 174014 chrX 153218362 153218362 C T rs1051153 HCFC1 Synonymous SNV P1515P 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 11.19 174015 chr9 130444817 130444817 C T rs201809337 STXBP1 Synonymous SNV N524N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.77 174016 chrX 153222483 153222483 G T rs1051151 HCFC1 Synonymous SNV S794S 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 9.585 174017 chrX 153585827 153585827 C T rs61741041 FLNA Synonymous SNV G1640G 0.003 0 0 3 4 0 0.008 0 1 0 0 1 Benign 15.37 174018 chrX 153763492 153763492 T C rs1050829 G6PD Nonsynonymous SNV N156D 0.003 0 0 3 3 0 0.008 0 1 0 0 1 Conflicting interpretations of pathogenicity 0.037 174019 chrX 153764217 153764217 C T rs1050828 G6PD Nonsynonymous SNV V98M 0.003 0 0 3 3 0 0.008 0 1 0 0 1 drug response 27.2 174020 chrX 154088838 154088838 T C rs1800297 F8 Nonsynonymous SNV M122V 0.003 0 0 3 3 0 0.008 0 1 0 0 1 Benign 7.091 174021 chr9 131007001 131007001 C T rs146892675 MIR199B 0 0 0.007 0 0 0 0 2 0 0 0 0 5.967 174022 chr12 88379807 88379807 T G C12orf50 Nonsynonymous SNV N277H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.53 174023 chr9 131847514 131847514 C T rs375808768 DOLPP1 Synonymous SNV Y97Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 174024 chr12 51882572 51882572 C G rs146917839 SLC4A8 Synonymous SNV L792L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 12.75 174025 chr5 156809630 156809630 C T rs760079960 CYFIP2 Synonymous SNV A998A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.93 174026 chr12 7045909 7045909 - CAG ATN1 Q502_H503insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 174027 chr12 21207472 21207472 T A rs200498218 SLCO1B7 Nonsynonymous SNV D481E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.509 174028 chr9 132862931 132862931 C T GPR107 Synonymous SNV S321S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 174029 chrX 49106712 49106712 G A CCDC22 Nonsynonymous SNV R625Q 0.003 0 0.007 0 3 0 0 2 1 0 1 0 23.7 174030 chrX 53263654 53263654 C T IQSEC2 Nonsynonymous SNV G1405D 0.003 0 0 0 3 0 0 0 1 0 0 0 23.3 174031 chr12 53086216 53086216 G A rs751887058 KRT77 Synonymous SNV G472G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.782 174032 chr9 33264540 33264540 C A rs1071545 BAG1 Nonsynonymous SNV G45W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.3 174033 chr12 991193 991193 G A rs750478389 WNK1 Nonsynonymous SNV R862H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 34 174034 chr13 101315270 101315270 G A rs764846329 TMTC4 Nonsynonymous SNV A148V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.03 174035 chrX 73960125 73960125 G A rs200322426 NEXMIF Nonsynonymous SNV R1423C 0.003 0 0 0 3 0 0 0 1 0 0 0 9.401 174036 chr9 35906601 35906601 - CCACCACACCCCTCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA HRCT1 H107_R108insHTPHHTPHHLHHHHHHHH 0.003 0 0 2 4 0 0.005 0 1 0 0 0 174037 chrX 9905606 9905606 C A rs199742414 SHROOM2 Synonymous SNV I175I 0.003 0 0.007 0 3 0 0 2 1 0 1 0 13.69 174038 chrX 9935548 9935548 T A rs73478917 CLDN34 Nonsynonymous SNV C51S 0.003 0 0.007 0 3 0 0 2 1 0 1 0 0.247 174039 chrX 9935582 9935582 G A rs73478919 CLDN34 Nonsynonymous SNV R62H 0.004 0 0.007 0 5 0 0 2 1 0 1 0 0.011 174040 chr9 139259592 139259592 C G rs141992399 CARD9 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.83 174041 chr13 103703638 103703638 G T rs760485129 SLC10A2 Nonsynonymous SNV L244M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.78 174042 chr12 54348913 54348913 C G rs772952163 HOXC12 Nonsynonymous SNV P67R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27 174043 chr13 108863236 108863236 C G rs61752350 LIG4 Nonsynonymous SNV M127I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Uncertain significance 0.296 174044 chr9 139371869 139371869 G C rs369467716 SEC16A Nonsynonymous SNV L67V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 174045 chr12 54982261 54982261 G T PPP1R1A Nonsynonymous SNV D4E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 174046 chr13 111279816 111279816 G A rs553217045 NAXD Synonymous SNV E29E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.147 174047 chr13 111367876 111367876 G C rs78799989 ING1, ING1 Nonsynonymous SNV G29A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 7.44 174048 chr13 111371958 111371958 G A rs76490034 ING1 Synonymous SNV S156S 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 3.028 174049 chr13 114058028 114058028 G A rs183860036 LOC101928841 Nonsynonymous SNV P1493S 0 0.008 0 0 0 3 0 0 0 0 0 0 4.886 174050 chr13 114058943 114058943 C T rs184423615 LOC101928841 Nonsynonymous SNV A1188T 0 0.008 0 0 0 3 0 0 0 0 0 0 4.871 174051 chr13 114060670 114060670 C A rs189561106 LOC101928841 Nonsynonymous SNV G612V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.207 174052 chr9 140127473 140127473 T C SLC34A3 Nonsynonymous SNV S156P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 174053 chr13 115090026 115090026 T C rs199714471 CHAMP1 Synonymous SNV L237L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 174054 chr9 79323160 79323160 C T rs200318192 PRUNE2 Nonsynonymous SNV V1344M 0 0 0 2 0 0 0.005 0 0 0 0 0 15.37 174055 chr9 16552678 16552678 G A rs149019822 BNC2 Synonymous SNV S131S 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 12.23 174056 chr9 86559865 86559865 C T rs147393439 C9orf64 Nonsynonymous SNV V213I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 174057 chr9 90501484 90501484 C T SPATA31E1 Synonymous SNV T694T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.928 174058 chr12 49689657 49689657 A G LOC101927267 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.986 174059 chr13 110436732 110436732 G A IRS2 Nonsynonymous SNV R557C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 174060 chr9 304648 304648 C G rs542942121 DOCK8 Nonsynonymous SNV L90V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 174061 chr9 96060235 96060235 T C WNK2 Nonsynonymous SNV F1937L 0 0 0 2 0 0 0.005 0 0 0 0 0 15.62 174062 chr9 32542056 32542056 T C rs377384599 TOPORS Nonsynonymous SNV S758G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 174063 chr9 33303226 33303226 T C rs141426893 NFX1 Synonymous SNV N410N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.553 174064 chr9 34710037 34710037 G A CCL21 Synonymous SNV L9L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 174065 chr12 123461303 123461303 G A rs187169897 OGFOD2 Nonsynonymous SNV D98N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.044 174066 chr13 45768256 45768256 G A rs34555048 KCTD4 Synonymous SNV H149H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.413 174067 chr9 38396743 38396743 A G ALDH1B1 Nonsynonymous SNV N333S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 174068 chr13 46543092 46543092 C T rs143879310 ZC3H13 Nonsynonymous SNV R1196Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.4 174069 chr9 5921575 5921575 A G rs76173761 KIAA2026 Nonsynonymous SNV M1474T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.813 174070 chr12 75874683 75874683 T C rs376000598 GLIPR1 Nonsynonymous SNV I8T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.501 174071 chr9 6007512 6007514 CTC - rs760208732 KIAA2026 E92del 0 0 0.003 0 0 0 0 1 0 0 0 0 174072 chr6 28213039 28213039 C T ZKSCAN4 Nonsynonymous SNV R343Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.573 174073 chr12 13243491 13243491 G A rs536441717 GSG1 Nonsynonymous SNV R104W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 174074 chr12 83250903 83250903 G C TMTC2 Synonymous SNV R66R 0 0.005 0 0 0 2 0 0 0 0 0 0 5.462 174075 chr11 64127985 64127985 A G RPS6KA4 Nonsynonymous SNV Y128C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.41 174076 chr13 95768242 95768242 - T rs756989444 ABCC4 Frameshift insertion N776Kfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 174077 chr12 14589103 14589103 G A rs761806828 ATF7IP Nonsynonymous SNV R569H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 174078 chrX 19478241 19478241 G A rs759145081 MAP3K15 Synonymous SNV D250D 0.001 0.008 0.007 2 1 3 0.005 2 0 1 1 1 10.36 174079 chr9 90264908 90264908 G A rs200488258 DAPK1 Nonsynonymous SNV G501S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 174080 chr11 64645790 64645790 C G EHD1 Synonymous SNV A49A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.27 174081 chr9 93657837 93657837 A T rs145685109 SYK Synonymous SNV A598A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.356 174082 chr11 64898205 64898205 T G rs148093401 SYVN1 Synonymous SNV P344P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.58 174083 chr9 99413940 99413940 C T rs752094103 PRXL2C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.6 174084 chrX 100177889 100177889 T C rs146741999 XKRX Nonsynonymous SNV N166S 0 0 0.007 0 0 0 0 2 0 0 1 0 7.517 174085 chr13 46801917 46801917 G T LRRC63 Nonsynonymous SNV R119L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 174086 chr6 43024148 43024148 T C rs752250009 MRPL2 Nonsynonymous SNV K101E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 174087 chr11 6290981 6290981 C T rs768018211 CCKBR Synonymous SNV V78V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.17 174088 chrX 111195460 111195460 G A rs144277886 TRPC5 Synonymous SNV I63I 0.002 0.005 0.007 0 2 2 0 2 0 1 1 0 10.8 174089 chrX 11162131 11162131 C T rs750307577 ARHGAP6 Synonymous SNV R535R 0 0 0.007 0 0 0 0 2 0 0 1 0 13.22 174090 chr13 53420850 53420850 T A rs142341255 PCDH8 Nonsynonymous SNV Q574H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.42 174091 chr12 283866 283866 G A rs773981408 IQSEC3 Synonymous SNV P1072P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.94 174092 chr11 65655470 65655470 C A rs11559153 FIBP Synonymous SNV P73P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 13.39 174093 chr14 105613741 105613741 C G JAG2 Nonsynonymous SNV G763R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 174094 chr14 105685553 105685553 G A BRF1 Nonsynonymous SNV S227L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 174095 chr12 65268809 65268809 G A rs557381275 TBC1D30 Synonymous SNV P395P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 174096 chr13 113210470 113210470 G A rs200242803 TUBGCP3 Nonsynonymous SNV T196I 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.6 174097 chr6 52130875 52130875 G C rs45548236 MCM3 Synonymous SNV S461S 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 9.704 174098 chrX 151093088 151093089 TG - rs768537377 MAGEA4 *318delinsSMSCSQGCGEGAGLGQCI* 0 0 0.007 0 0 0 0 2 0 0 1 0 174099 chr13 113508804 113508804 C T ATP11A Synonymous SNV L735L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 174100 chr11 67817961 67817961 C T rs759227930 TCIRG1 Synonymous SNV S532S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.09 174101 chr6 54214616 54214616 C T TINAG Synonymous SNV A334A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.6 174102 chrX 153209357 153209357 T G RENBP Synonymous SNV A93A 0 0 0.007 0 0 0 0 2 0 0 1 0 6.299 174103 chr12 42538383 42538383 A G GXYLT1 Synonymous SNV A22A 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 0.028 174104 chr12 42538386 42538386 G A GXYLT1 Synonymous SNV Y21Y 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 2.699 174105 chrX 16142472 16142472 G A rs35636070 GRPR Synonymous SNV T132T 0.001 0 0.014 0 1 0 0 4 0 0 2 0 Benign 7.781 174106 chrX 17072979 17072979 C T rs755215548 REPS2 Synonymous SNV F339F 0 0 0.007 0 0 0 0 2 0 0 1 0 14.22 174107 chr12 7052989 7052989 G T RNU7-1 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 174108 chr13 21732250 21732250 G A rs764702773 SKA3 Synonymous SNV Y310Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.291 174109 chr6 71567750 71567750 A G SMAP1 Nonsynonymous SNV S336G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.33 174110 chrX 31854852 31854852 C T rs72466590 DMD Nonsynonymous SNV A1054T 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 15.64 174111 chr10 105349402 105349402 G A NEURL1 Nonsynonymous SNV G491S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 15.06 174112 chr10 46999723 46999723 G T rs71265691 GPRIN2 Nonsynonymous SNV R281S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.605 174113 chr12 49689584 49689584 G C rs528907613 LOC101927267 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.97 174114 chrX 54836336 54836336 G A rs148790335 MAGED2 Nonsynonymous SNV R76Q 0.001 0 0.007 0 1 0 0 2 0 0 1 0 13.02 174115 chr12 49725054 49725054 T C rs545155075 TROAP Nonsynonymous SNV L719S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 26.2 174116 chr14 23848042 23848042 G T rs76093393 CMTM5 Nonsynonymous SNV L148F 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 2.34 174117 chr6 84140625 84140625 G A rs150104904 ME1 Synonymous SNV L17L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.93 174118 chr10 49982613 49982613 C T WDFY4 Synonymous SNV A888A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.667 174119 chr14 23853860 23853860 T C MYH6 Nonsynonymous SNV K1786E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.6 174120 chr14 105878113 105878113 C G rs186832203 TEX22 Synonymous SNV R132R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 174121 chr13 38164581 38164581 C T rs56017598 POSTN Synonymous SNV R123R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 17.23 174122 chr10 101715493 101715493 T C DNMBP Nonsynonymous SNV M580V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 174123 chr10 104230587 104230587 G A rs139994075 MFSD13A Synonymous SNV T139T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.49 174124 chr10 105770582 105770582 T G rs145383503 SLK Nonsynonymous SNV N931K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 174125 chr11 72119150 72119150 C A CLPB Nonsynonymous SNV W104C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.73 174126 chr13 49281261 49281261 A C rs116932219 CYSLTR2 Nonsynonymous SNV N103T 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 0.004 174127 chr14 44975338 44975338 G A FSCB Nonsynonymous SNV P285S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 174128 chr10 115389508 115389508 G A rs141990446 NRAP Nonsynonymous SNV R592W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 174129 chr6 116558193 116558193 C T rs61756061 NT5DC1 Synonymous SNV N289N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.23 174130 chr10 115644133 115644133 A G NHLRC2 Nonsynonymous SNV T345A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 174131 chr10 115803935 115803935 A G rs560283907 ADRB1 Nonsynonymous SNV N15S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 174132 chr13 96553071 96553071 C G rs777426650 UGGT2 Nonsynonymous SNV S875T 0 0.008 0 0 0 3 0 0 0 0 0 0 24.7 174133 chr14 23993141 23993141 G T rs752867391 ZFHX2 Nonsynonymous SNV P2004T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 174134 chr10 118363582 118363582 A T rs148174202 PNLIPRP1 Synonymous SNV T368T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.002 174135 chr11 798222 798222 - CGC rs572464433 PANO1 R204_A205insR 0 0.003 0 0 0 1 0 0 0 0 0 0 174136 chr11 800372 800372 G - PIDD1 T708Pfs*70 0.003 0.003 0 0 3 1 0 0 0 0 0 0 174137 chr10 124353097 124353097 G A rs561523976 DMBT1 Nonsynonymous SNV R828Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 174138 chr13 114435882 114435882 G A rs202076986 GRK1 Nonsynonymous SNV R407Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 27.4 174139 chr6 139109502 139109502 G A rs749042682 CCDC28A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 174140 chr6 139694963 139694965 TGG - rs749590293 CITED2 H39del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 174141 chr14 105361253 105361253 G A rs762407633 CEP170B Synonymous SNV P1506P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.611 174142 chr14 105405086 105405086 G A rs769268168 AHNAK2 Nonsynonymous SNV P5468S 0 0.005 0 0 0 2 0 0 0 0 0 0 22.2 174143 chr14 105932808 105932808 C G MTA1 Nonsynonymous SNV S557C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 174144 chr13 23911375 23911375 G A rs138379074 SACS Nonsynonymous SNV R2067C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24.1 174145 chr10 133962952 133962952 C T JAKMIP3 Nonsynonymous SNV H555Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 174146 chr6 151865750 151865750 A G rs200506378 CCDC170 Nonsynonymous SNV K163E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.028 174147 chr6 152646425 152646425 C T rs199996504 SYNE1 Nonsynonymous SNV V5080M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.08 174148 chr10 16635412 16635412 A G RSU1 Nonsynonymous SNV L219P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 174149 chr14 21058503 21058503 T G rs143595951 RNASE12 Nonsynonymous SNV E127A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.52 174150 chr12 6861152 6861152 A G MLF2 Nonsynonymous SNV F40S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.7 174151 chr10 135278945 135278945 C T SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.661 174152 chr13 38153494 38153494 C A rs755775583 POSTN Nonsynonymous SNV D555Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 174153 chr14 21825390 21825390 C T SUPT16H Nonsynonymous SNV V876I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 174154 chr12 76784324 76784324 C T OSBPL8 Nonsynonymous SNV G323E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 174155 chr10 25886984 25886984 G A rs752370530 GPR158 Nonsynonymous SNV R810Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 174156 chr14 81744305 81744305 G A rs142806717 STON2 Synonymous SNV F450F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.685 174157 chr14 23374216 23374216 C T rs779141384 RBM23 Synonymous SNV E210E 0 0.005 0 0 0 2 0 0 0 0 0 0 14.82 174158 chr14 23744801 23744806 CATCAT - rs764913179 HOMEZ D544_D545del 0 0.008 0 1 0 3 0.003 0 0 0 0 0 174159 chr14 23745677 23745677 C T rs377648125 HOMEZ Nonsynonymous SNV V254I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.817 174160 chr12 109877440 109877440 A G MYO1H Nonsynonymous SNV I751V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.45 174161 chr14 91739029 91739029 C T rs200979954 CCDC88C Synonymous SNV P2009P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.396 174162 chr14 91780360 91780360 C T rs774165990 CCDC88C Synonymous SNV T600T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.319 174163 chr14 71275730 71275730 C T rs368502639 MAP3K9 Synonymous SNV P53P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 174164 chr12 113867044 113867044 C G rs774576703 SDSL Synonymous SNV T98T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.31 174165 chr14 93581424 93581424 C G ITPK1 Nonsynonymous SNV E29Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 174166 chr14 93712313 93712313 G C rs776633399 BTBD7 Nonsynonymous SNV P463R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 174167 chr14 24608235 24608235 C T rs140507308 EMC9 Nonsynonymous SNV G130E 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.3 174168 chr10 34630655 34630655 G C PARD3 Nonsynonymous SNV L713V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 174169 chr14 94931052 94931052 C T rs77274019 SERPINA9 Nonsynonymous SNV V268I 0 0.005 0 0 0 2 0 0 0 0 0 0 12.02 174170 chr6 170047965 170047965 C A WDR27 Stop gain E330X 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 174171 chr14 95660243 95660243 T C rs148831726 CLMN Nonsynonymous SNV Y928C 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 24.4 174172 chr7 751025 751025 T C rs61732492 PRKAR1B Nonsynonymous SNV I40V 0.005 0.008 0.02 2 6 3 0.005 6 0 0 0 0 Benign 0.003 174173 chr7 794257 794257 C T rs77384933 DNAAF5 Synonymous SNV L352L 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 Benign 14.96 174174 chr7 796593 796593 G A rs118139460 DNAAF5 Nonsynonymous SNV E478K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 12.45 174175 chr12 121764968 121764968 G A rs371233998 ANAPC5 Synonymous SNV G345G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.96 174176 chr7 931975 931975 G A rs763298742 GET4 Synonymous SNV K222K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.49 174177 chr7 1786190 1786190 G A ELFN1 Nonsynonymous SNV R653Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 174178 chr14 35515791 35515791 C T rs560825552 FAM177A1 Nonsynonymous SNV S41L 0 0.005 0 0 0 2 0 0 0 0 0 0 22 174179 chr14 36004232 36004232 G T rs141662046 INSM2 Synonymous SNV T258T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.004 174180 chr14 89291166 89291166 G C TTC8 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 174181 chr7 4824676 4824676 C T rs748724870 AP5Z1 Stop gain R154X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely pathogenic 36 174182 chr7 5540668 5540668 C T rs775578443 FBXL18 Nonsynonymous SNV R411Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 174183 chr10 6066242 6066242 C T rs56054476 IL2RA Nonsynonymous SNV S111N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.564 174184 chr10 61828662 61828662 A G rs149557437 ANK3 Nonsynonymous SNV C3993R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 174185 chr10 61847941 61847941 C T rs987125617 ANK3 Synonymous SNV E302E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 174186 chr10 73050716 73050716 G A rs149315614 UNC5B Nonsynonymous SNV V371M 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 19.65 174187 chr14 63174304 63174304 G A rs148200469 KCNH5 Synonymous SNV P963P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.852 174188 chr12 15784544 15784544 G T rs142733590 EPS8 Nonsynonymous SNV P626T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 174189 chr15 42652262 42652262 C G rs558925493 CAPN3 Nonsynonymous SNV L87V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.5 174190 chr13 28494536 28494536 G C rs546786946 PDX1 Synonymous SNV P87P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.669 174191 chr12 21608132 21608132 C T rs146792991 PYROXD1 Synonymous SNV F114F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 18.21 174192 chr10 78651430 78651430 G A rs45527834 KCNMA1 Synonymous SNV T957T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 14.71 174193 chr13 32799167 32799167 T C FRY Nonsynonymous SNV F1672L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 174194 chr15 33927821 33927821 C T rs771090781 RYR3 Nonsynonymous SNV S1061L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.6 174195 chr10 82266995 82266995 C T rs200398177 TSPAN14 Synonymous SNV S48S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.32 174196 chr10 75289497 75289497 C T USP54 Synonymous SNV R610R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 14.82 174197 chr14 71444992 71444992 A T PCNX1 Nonsynonymous SNV K646N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.91 174198 chr10 88466382 88466382 G A rs749520121 LDB3 Nonsynonymous SNV A331T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.004 174199 chr14 73719484 73719484 G A rs143783319 PAPLN 0.004 0.016 0.003 1 5 6 0.003 1 0 0 0 0 24.9 174200 chr10 90122340 90122340 G A rs767854409 RNLS Synonymous SNV F223F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 174201 chr10 77159977 77159977 G A rs79343474 ZNF503 Synonymous SNV T157T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 12.63 174202 chr14 23567197 23567197 G A C14orf119 Synonymous SNV E110E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.63 174203 chr10 91066127 91066127 T C IFIT2 Synonymous SNV L138L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.645 174204 chr10 92912530 92912530 G A NUDT9P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.377 174205 chr14 23991277 23991277 G A rs767802341 ZFHX2 Nonsynonymous SNV A2538V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 174206 chr14 24729248 24729248 C G TGM1 Synonymous SNV V258V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.78 174207 chr15 54305612 54305612 G A rs137929834 UNC13C Nonsynonymous SNV R171H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 174208 chr14 81743648 81743648 C T rs147198775 STON2 Synonymous SNV A669A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.44 174209 chr11 124628401 124628401 C A rs116606979 ESAM Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 174210 chr15 59063812 59063812 C G rs143583599 MINDY2 Nonsynonymous SNV P73R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.096 174211 chr15 42977628 42977628 T C rs143692879 STARD9 Synonymous SNV H1284H 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 0.009 174212 chr14 34904468 34904468 C T SPTSSA Nonsynonymous SNV G52E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 174213 chr14 36278000 36278000 G A rs148182075 RALGAPA1 Synonymous SNV T14T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 10.08 174214 chr15 63953223 63953223 A G rs933434277 HERC1 Nonsynonymous SNV Y3058H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 174215 chr15 63956725 63956725 G A rs767027749 HERC1 Nonsynonymous SNV A2875V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 174216 chr14 38165996 38165996 A G rs940243351 TTC6 Synonymous SNV P460P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.566 174217 chr15 43452931 43452931 A G TMEM62 Nonsynonymous SNV N207S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 174218 chr14 93299522 93299522 A G rs75743171 GOLGA5 Nonsynonymous SNV H592R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.11 174219 chr14 94420690 94420690 C G rs371537990 ASB2 Nonsynonymous SNV V103L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.296 174220 chr10 99228162 99228162 G T rs150845089 MMS19 Nonsynonymous SNV D312E 0 0.003 0 3 0 1 0.008 0 0 0 0 0 20.4 174221 chr15 71507457 71507457 C T rs150014427 THSD4 Synonymous SNV P61P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.6 174222 chr7 80276078 80276078 G A CD36 Nonsynonymous SNV G8R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 174223 chr12 52214791 52214791 G A rs531385748 FIGNL2 Synonymous SNV G469G 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 15.01 174224 chr14 57698313 57698313 C T rs111631945 EXOC5 Synonymous SNV E353E 0.004 0.003 0.01 4 5 1 0.01 3 0 0 0 0 13.38 174225 chr11 10506446 10506446 C T rs34319136 AMPD3 Synonymous SNV H64H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 12.68 174226 chr11 108158393 108158393 C A rs145119475 ATM Nonsynonymous SNV P1354T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.83 174227 chr7 91991523 91991523 G C ANKIB1 Nonsynonymous SNV E474D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 174228 chr15 60747576 60747576 G A rs61753854 ICE2 Synonymous SNV D107D 0.004 0 0.01 3 5 0 0.008 3 1 0 0 0 2.112 174229 chr11 1086422 1086422 G A rs201891529 MUC2 Nonsynonymous SNV R1044H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 174230 chr7 98567845 98567845 C T rs746063585 TRRAP Synonymous SNV A2516A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 174231 chr15 34648671 34648671 C T rs367555847 NUTM1 Nonsynonymous SNV A811V 0 0.005 0 0 0 2 0 0 0 0 0 0 9.703 174232 chr7 99751567 99751567 C T LAMTOR4 Nonsynonymous SNV R67W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 174233 chr15 68521889 68521889 C T rs112239768 CLN6 Nonsynonymous SNV A12T 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 174234 chr15 86123266 86123266 C A rs143046094 AKAP13 Nonsynonymous SNV T656N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 174235 chr11 119043613 119043613 C T rs771901209 NLRX1 Synonymous SNV A48A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 174236 chr15 87531320 87531320 - T rs547400346 AGBL1 0 0.003 0 0 0 1 0 0 0 0 0 0 174237 chr11 121000653 121000653 C A rs748088048 TECTA Nonsynonymous SNV L892M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 174238 chr15 42276761 42276761 G A rs375560571 PLA2G4E Synonymous SNV Y753Y 0 0.01 0 0 0 4 0 0 0 0 0 0 0.811 174239 chr11 105795406 105795406 C T rs769713078 GRIA4 Synonymous SNV S586S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.3 174240 chr15 75503360 75503360 A G rs769013535 C15orf39 Nonsynonymous SNV N1016S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.59 174241 chr14 23991496 23991496 G A rs61733356 ZFHX2 Nonsynonymous SNV P2465L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 13.07 174242 chr11 123847696 123847696 T C OR10S1 Nonsynonymous SNV I235V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 174243 chr14 24004240 24004240 C G rs61740283 ZFHX2 Nonsynonymous SNV E99Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 2.842 174244 chr14 24114483 24114483 T C rs7156794 DHRS2 Nonsynonymous SNV V292A 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 0.002 174245 chr14 24114490 24114490 G A rs7150155 DHRS2 Synonymous SNV V294V 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 5.632 174246 chr11 3692487 3692487 G - CHRNA10 P19Lfs*27 0.002 0 0 0 2 0 0 0 0 0 0 0 174247 chr14 88431931 88431931 - AACT GALC Frameshift insertion P295Vfs*59 0 0.003 0 0 0 1 0 0 0 0 0 0 174248 chr14 24771449 24771449 T A rs762788937 NOP9 Nonsynonymous SNV L321Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 28 174249 chr15 90346935 90346935 C T rs578041370 ANPEP Synonymous SNV S460S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.77 174250 chr14 24877585 24877585 G T NYNRIN Nonsynonymous SNV V237L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.043 174251 chr15 91304070 91304070 G A rs56257041 BLM Synonymous SNV R489R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.572 174252 chr11 124310856 124310856 G T rs150153041 OR8B8 Nonsynonymous SNV N42K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 174253 chr11 124763789 124763789 G A rs374471211 ROBO4 Nonsynonymous SNV R346C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 174254 chr11 47470487 47470487 G T RAPSN Synonymous SNV I10I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 174255 chr14 33292767 33292767 A G AKAP6 Synonymous SNV V1916V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.022 174256 chr15 85342421 85342421 A T ZNF592 Synonymous SNV V1039V 0.003 0 0 0 3 0 0 0 0 0 0 0 2.136 174257 chr15 62967428 62967428 T C rs200982885 TLN2 Nonsynonymous SNV C289R 0 0.005 0 0 0 2 0 0 0 0 0 0 25.4 174258 chr7 103969248 103969248 - GCCGCC LHFPL3 A14_M15insAA 0.001 0 0 2 1 0 0.005 0 0 0 0 0 174259 chr11 126314949 126314949 C T rs201882059 KIRREL3 Nonsynonymous SNV A393T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 174260 chr11 1280192 1280192 C T rs540837204 MUC5B Synonymous SNV G5538G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 174261 chr15 65688156 65688156 G A rs761212182 IGDCC4 Nonsynonymous SNV A448V 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 174262 chr7 114655779 114655779 C T rs145324284 MDFIC Synonymous SNV C177C 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 15.48 174263 chr15 101605610 101605610 C A LRRK1 Synonymous SNV P1656P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.859 174264 chr15 68491957 68491963 GGTCGGT - rs755313640 CALML4 T74Sfs*5 0 0.005 0 0 0 2 0 0 0 0 0 0 174265 chr16 1825081 1825081 G A rs749277136 EME2 Nonsynonymous SNV E173K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.512 174266 chr16 1828153 1828153 G A rs771892457 SPSB3 Synonymous SNV P158P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.36 174267 chr16 1842146 1842146 C T rs898201670 IGFALS Synonymous SNV P129P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.95 174268 chr15 31727664 31727664 G A rs531262210 KLF13 Synonymous SNV G223G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.861 174269 chr11 18722509 18722509 G A rs151237850 TMEM86A Synonymous SNV P17P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.573 174270 chr7 130295973 130295973 T A rs368334352 COPG2 Synonymous SNV A196A 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 15.91 174271 chr14 60591637 60591637 G T PCNX4 Nonsynonymous SNV W682C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 174272 chr11 19970300 19970300 C T rs143426925 NAV2 Synonymous SNV S709S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 174273 chr15 75932016 75932016 T G IMP3 Nonsynonymous SNV K165T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 174274 chr16 2282899 2282899 C T rs543875333 E4F1 Synonymous SNV D291D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.713 174275 chr7 134878191 134878191 C T rs374158948 WDR91 Nonsynonymous SNV G510E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.059 174276 chr11 20139723 20139723 C T rs199689475 NAV2 Synonymous SNV S1467S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 174277 chr15 41193149 41193149 C T rs12914973 VPS18 Synonymous SNV R711R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.23 174278 chr15 41222183 41222183 G T rs199931075 DLL4 Nonsynonymous SNV V69F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.83 174279 chr15 80873489 80873489 G A rs923181341 MIR5572 0 0.008 0 0 0 3 0 0 0 0 0 0 0.634 174280 chr16 2821496 2821496 C G rs573242037 ELOB Nonsynonymous SNV V155L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.64 174281 chr15 42111846 42111846 C T rs144329674 MAPKBP1 Nonsynonymous SNV R827W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 35 174282 chr7 141366203 141366203 A G rs201876806 DENND11 Nonsynonymous SNV M235T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.4 174283 chr14 68878217 68878217 C T RAD51B Synonymous SNV L310L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.25 174284 chr15 42159210 42159210 G C SPTBN5 Nonsynonymous SNV H2143D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.169 174285 chr11 293666 293666 G A rs368564028 PGGHG Nonsynonymous SNV R518H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 174286 chr14 70237984 70237984 C G rs549213868 SRSF5 Nonsynonymous SNV R209G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 174287 chr7 142563863 142563863 C T rs756678148 EPHB6 Synonymous SNV A125A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.011 174288 chr15 42192849 42192849 G A rs139614532 EHD4 Synonymous SNV A540A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.9 174289 chr15 42373292 42373292 G A rs56985825 PLA2G4D Nonsynonymous SNV R333W 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 Benign 34 174290 chr15 42434398 42434398 C G rs138213395 PLA2G4F Synonymous SNV V778V 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 10.9 174291 chr14 73739338 73739338 G A PAPLN Nonsynonymous SNV R1268H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 174292 chr11 34186340 34186340 C T rs755450996 ABTB2 Synonymous SNV L627L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 174293 chr15 86807564 86807564 G A rs370030898 AGBL1 Nonsynonymous SNV A388T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.57 174294 chr11 3845116 3845116 C T PGAP2 Nonsynonymous SNV P57S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 174295 chr15 44084492 44084492 A G rs530789291 SERF2-C15ORF63 0 0.003 0 0 0 1 0 0 0 0 0 0 9.167 174296 chr15 44177939 44177939 C T FRMD5 Nonsynonymous SNV S265N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 174297 chr15 44194445 44194445 T C FRMD5 Synonymous SNV A154A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.187 174298 chr16 3165854 3165854 T G rs368823356 ZNF205 Nonsynonymous SNV V99G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.823 174299 chr15 48055229 48055229 T C rs146298995 SEMA6D Synonymous SNV H225H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.781 174300 chr15 51250897 51250897 T C rs139022614 AP4E1 Nonsynonymous SNV M511T 0.003 0.018 0 0 3 7 0 0 0 0 0 0 Uncertain significance 22.8 174301 chr11 18317555 18317555 A T rs139442243 HPS5 Nonsynonymous SNV V428D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 29.2 174302 chr7 156469134 156469134 G A rs771521330 RNF32 Nonsynonymous SNV E292K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 174303 chr15 55838772 55838772 G T rs143461426 PYGO1 Nonsynonymous SNV P237T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.17 174304 chr15 57745898 57745898 T C rs146624350 CGNL1 Nonsynonymous SNV M691T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.82 174305 chr8 2044262 2044262 G A rs373008247 MYOM2 Synonymous SNV P767P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.735 174306 chr15 60297669 60297669 C T rs770194613 FOXB1 Synonymous SNV P169P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.15 174307 chr15 62173805 62173805 C T rs777906893 VPS13C Nonsynonymous SNV V3202I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.101 174308 chr15 62261612 62261612 T C rs146460562 VPS13C Nonsynonymous SNV T890A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.67 174309 chr16 108482 108482 C T rs972917611 RHBDF1 Nonsynonymous SNV V809M 0 0.005 0 0 0 2 0 0 0 0 0 0 14.68 174310 chr16 111195 111195 C G rs140406683 RHBDF1 Nonsynonymous SNV E494Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.43 174311 chr16 55608588 55608588 G A rs762658043 LPCAT2 Nonsynonymous SNV A421T 0 0.005 0 0 0 2 0 0 0 0 0 0 19.92 174312 chr8 10470288 10470288 G A rs137914071 RP1L1 Synonymous SNV H440H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 1.574 174313 chr13 76448026 76448026 A G rs925258051 LMO7DN 0 0.003 0 0 0 1 0 0 0 0 0 0 0.042 174314 chr8 12879538 12879538 G A rs755973996 TRMT9B Synonymous SNV K324K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.42 174315 chr15 69018219 69018219 G A rs749493485 CORO2B Nonsynonymous SNV R445Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 174316 chr13 96264340 96264340 C T DZIP1 Nonsynonymous SNV G422E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 174317 chr16 613572 613572 C G PRR35 Nonsynonymous SNV P93R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.336 174318 chr16 4033244 4033244 C T rs151221211 ADCY9 Synonymous SNV A836A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 174319 chr16 17221676 17221676 G C rs1046261064 XYLT1 Nonsynonymous SNV F690L 0 0.005 0 0 0 2 0 0 0 0 0 0 26.8 174320 chr15 74473126 74473126 C T rs371354066 STRA6 Nonsynonymous SNV E613K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 174321 chr16 66949228 66949228 T G rs143299065 CDH16 Nonsynonymous SNV N160H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 174322 chr16 1869949 1869949 G A rs111588797 HAGH Synonymous SNV D127D 0.003 0.013 0.01 1 3 5 0.003 3 0 0 0 0 3.208 174323 chr16 67328015 67328015 C T KCTD19 Synonymous SNV K550K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.16 174324 chr16 67686392 67686392 G C rs201058720 CARMIL2 Nonsynonymous SNV Q945H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.46 174325 chr16 18826504 18826504 G A rs558337567 SMG1 Synonymous SNV F3538F 0 0.005 0 0 0 2 0 0 0 0 0 0 12.99 174326 chr16 18841001 18841001 G A rs377175944 SMG1 Synonymous SNV N3070N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.825 174327 chr8 21769996 21769996 A T rs369991976 DOK2 Nonsynonymous SNV L30Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 174328 chr15 76225180 76225180 C T rs201138132 FBXO22 Nonsynonymous SNV H317Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 174329 chr16 68842332 68842332 C T rs145430811 CDH1 Synonymous SNV S131S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 13.35 174330 chr16 1961731 1961731 G A rs61740582 HS3ST6 Nonsynonymous SNV R297C 0.002 0.013 0.01 1 2 5 0.003 3 0 0 0 0 25.1 174331 chr16 1961842 1961842 C T rs112983972 HS3ST6 Nonsynonymous SNV V260I 0.002 0.013 0.01 1 2 5 0.003 3 0 0 0 0 0.062 174332 chr16 4943234 4943234 C T rs139608681 PPL Nonsynonymous SNV E544K 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 15.27 174333 chr16 5061230 5061230 C T rs201054737 SEC14L5 Synonymous SNV C645C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.2 174334 chr16 22826162 22826162 G A rs757441609 HS3ST2 Synonymous SNV G77G 0 0.005 0 0 0 2 0 0 0 0 0 0 11.87 174335 chr16 2349507 2349507 C T rs755254335 ABCA3 Synonymous SNV R546R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.749 174336 chr16 24816114 24816114 A T TNRC6A Nonsynonymous SNV N1309I 0 0.005 0 0 0 2 0 0 0 0 0 0 11.82 174337 chr16 24942711 24942711 C T ARHGAP17 Nonsynonymous SNV A559T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.8 174338 chr11 56467914 56467914 C G rs764343119 OR9G1, OR9G9 Synonymous SNV T17T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.868 174339 chr16 2815653 2815653 C T rs756393759 SRRM2 Synonymous SNV R1708R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.157 174340 chr16 57507292 57507292 C T rs765230183 DOK4 Synonymous SNV Q365Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.64 174341 chr16 322918 322918 C T rs541738418 RGS11 Nonsynonymous SNV D190N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.479 174342 chr16 703434 703434 C T rs934001796 WDR90 Nonsynonymous SNV L406F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 174343 chr16 846045 846045 G A rs755778143 CHTF18 Synonymous SNV T808T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.62 174344 chr16 70508544 70508544 C T rs17883716 FCSK Nonsynonymous SNV P701L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.5 174345 chr8 71068947 71068947 C T rs61753706 NCOA2 Synonymous SNV S397S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 12.86 174346 chr14 21469223 21469223 G A rs144375696 SLC39A2 Nonsynonymous SNV E139K 0.009 0.013 0 0 10 5 0 0 0 0 0 0 11.48 174347 chr16 114798 114798 A G RHBDF1 Synonymous SNV S49S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.8 174348 chr16 4797524 4797524 C A rs752865697 C16orf71 Nonsynonymous SNV S487R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.162 174349 chr8 99101421 99101421 G A rs7833473 ERICH5 Nonsynonymous SNV R59H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.766 174350 chr16 50259133 50259133 T C rs777802104 TENT4B Synonymous SNV S579S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.162 174351 chr11 61959531 61959531 A C rs2232940 SCGB1D1 Nonsynonymous SNV N20T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 174352 chr16 50402208 50402208 C T rs199881319 BRD7 Synonymous SNV E17E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.73 174353 chr16 50709707 50709707 C T rs766972697 SNX20 Nonsynonymous SNV E86K 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.9 174354 chr16 50733783 50733783 T G rs867184583 NOD2 Nonsynonymous SNV L126R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 174355 chr8 101620766 101620766 C T rs138819788 SNX31 Nonsynonymous SNV V114M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.055 174356 chr11 62365580 62365580 C T rs202171761 MTA2 Nonsynonymous SNV V136M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 174357 chr11 62400116 62400116 T C rs138726440 GANAB Nonsynonymous SNV N192S 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 Benign 1.193 174358 chr16 55880383 55880383 A G rs752945026 CES5A Nonsynonymous SNV F520L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.035 174359 chr8 113347559 113347559 G A rs61754528 CSMD3 Synonymous SNV H2188H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.009 174360 chr16 2000901 2000901 C T rs201908489 RPL3L Nonsynonymous SNV D149N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.85 174361 chr8 123964400 123964400 G A rs756368144 ZHX2 Nonsynonymous SNV R217H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.81 174362 chr16 2142071 2142071 G C rs149331148 PKD1 Synonymous SNV A3795A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.132 174363 chr11 68529123 68529123 C T rs111407620 CPT1A Synonymous SNV A636A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.9 174364 chr8 124693539 124693539 T C rs746916602 ANXA13 Nonsynonymous SNV M298V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.2 174365 chr11 64522752 64522752 T C rs114468011 PYGM Nonsynonymous SNV N195S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 174366 chr16 58031648 58031648 C G rs200765644 ZNF319 Nonsynonymous SNV E174D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.56 174367 chr16 58074526 58074526 G A rs17854895 MMP15 Synonymous SNV A278A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.79 174368 chr16 58287973 58287973 A T rs144246110 CCDC113 Nonsynonymous SNV K100N 0.011 0.01 0.003 2 13 4 0.005 1 0 0 0 0 21.3 174369 chr11 64802562 64802562 C T SNX15 Nonsynonymous SNV S135F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.95 174370 chr15 73414920 73414920 A G rs142340038 NEO1 Nonsynonymous SNV N168S 0.005 0 0.003 0 6 0 0 1 0 0 0 0 0.868 174371 chr16 87445609 87445609 - TGG rs769731922 ZCCHC14 H906_Q907insH 0.001 0 0 0 1 0 0 0 0 0 0 0 174372 chr17 15217439 15217439 G A rs200743438 TEKT3 Synonymous SNV V281V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 174373 chr15 74559064 74559064 T C CCDC33 Nonsynonymous SNV L122S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 174374 chr16 88706392 88706392 G T IL17C Nonsynonymous SNV G169V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 174375 chr16 28124330 28124330 G A XPO6 Synonymous SNV V682V 0.004 0.008 0 0 5 3 0 0 0 0 0 0 13.91 174376 chr16 69143602 69143602 C T rs201235778 HAS3 Nonsynonymous SNV R102C 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 34 174377 chr14 62016536 62016536 A C PRKCH Nonsynonymous SNV E680A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.8 174378 chr16 88781314 88781314 C T rs139862860 CTU2 Nonsynonymous SNV R380C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 174379 chr16 29676119 29676119 C A SPN Nonsynonymous SNV A357E 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 24 174380 chr16 88798206 88798206 G A rs762537822 PIEZO1 Nonsynonymous SNV A1035V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 174381 chr14 64518339 64518339 G A rs376507352 SYNE2 Nonsynonymous SNV E2570K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 174382 chr17 18003919 18003919 G A rs143296623 DRG2 Nonsynonymous SNV V193I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 17.81 174383 chr16 71487169 71487169 G C rs531705739 ZNF23 Nonsynonymous SNV T40R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.002 174384 chr14 54420109 54420109 G A BMP4 Synonymous SNV S24S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.92 174385 chr11 6644232 6644232 C T rs781273126 DCHS1 Nonsynonymous SNV R2892Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 174386 chr16 721193 721193 C T RHOT2 Nonsynonymous SNV L236F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.7 174387 chr14 59826221 59826224 AAGT - DAAM1 N878Hfs*3 0.002 0.003 0 0 2 1 0 0 0 0 0 0 174388 chr14 73980746 73980746 G T rs150212644 HEATR4 Nonsynonymous SNV A468D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 174389 chr11 7960819 7960819 C T rs143714255 OR10A3 Synonymous SNV V83V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.362 174390 chr11 6977109 6977109 T C rs149189074 ZNF215 Nonsynonymous SNV F63L 0.003 0.005 0.014 0 4 2 0 4 0 0 0 0 Benign 18.01 174391 chr8 144945685 144945685 G A rs782303888 EPPK1 Synonymous SNV D579D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.086 174392 chr17 26659218 26659218 G A rs547146339 IFT20 Synonymous SNV V10V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.766 174393 chr17 1383868 1383868 C T rs117696188 MYO1C Nonsynonymous SNV V287I 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 26.7 174394 chr17 26822793 26822793 G A rs11568476 SLC13A2 Nonsynonymous SNV V526M 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 29.4 174395 chr17 1554598 1554598 C T rs200741294 PRPF8 Synonymous SNV T2219T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.51 174396 chr16 84224958 84224958 G A rs767625659 ADAD2 Nonsynonymous SNV S41N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 174397 chr14 89168912 89168912 C T rs776244158 EML5 Nonsynonymous SNV V706M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.6 174398 chr16 85688515 85688515 C G GSE1 Nonsynonymous SNV L135V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.23 174399 chr8 146035382 146035382 G A rs191239012 LOC100130027 0 0 0 1 0 0 0.003 0 0 0 0 0 4.683 174400 chr8 146076611 146076611 C T rs140849685 COMMD5 Nonsynonymous SNV R38Q 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 15.45 174401 chr11 824042 824042 C T rs137866968 PNPLA2 Nonsynonymous SNV L322F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.87 174402 chr11 85435221 85435221 T C rs764883923 SYTL2 Nonsynonymous SNV N1727S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.95 174403 chr12 102045050 102045050 G A rs200002296 MYBPC1 Nonsynonymous SNV V418I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 174404 chr9 5921727 5921729 TGC - rs755136018 KIAA2026 A1423del 0 0 0 1 0 0 0.003 0 0 0 0 0 174405 chr11 8933004 8933004 A C rs116521366 AKIP1 Nonsynonymous SNV N3T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 174406 chr11 9168594 9168594 T C rs779865474 DENND5A Nonsynonymous SNV N923S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.45 174407 chr17 2240986 2240986 G A rs144150639 SGSM2 Nonsynonymous SNV G2S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 174408 chr16 89806479 89806479 T G rs138620653 FANCA Nonsynonymous SNV H1286P 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 0.088 174409 chr9 21333809 21333809 A G rs762591796 KLHL9 Synonymous SNV Y350Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.003 174410 chr17 27899939 27899939 G A TP53I13 Synonymous SNV E350E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.217 174411 chr17 27944261 27944261 C G rs1023171100 CORO6 Nonsynonymous SNV R17P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 174412 chr17 10600605 10600605 G C SCO1 Nonsynonymous SNV P74A 0 0.005 0 0 0 2 0 0 0 0 0 0 2.975 174413 chr16 19058499 19058499 C T rs201258676 TMC7 Synonymous SNV I214I 0.001 0 0 0 1 0 0 0 0 0 0 0 16 174414 chr17 3100981 3100981 A G OR1A2 Nonsynonymous SNV N57D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 174415 chr9 35398997 35398997 G - UNC13B V895Yfs*25 0 0 0 1 0 0 0.003 0 0 0 0 0 174416 chr17 15903502 15903502 C T rs753681043 TTC19 Synonymous SNV A85A 0 0.01 0 0 0 4 0 0 0 1 0 0 20.3 174417 chr16 21031030 21031030 G A DNAH3 Nonsynonymous SNV R1934C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 35 174418 chr17 17067434 17067434 C T MPRIP Synonymous SNV A875A 0 0.01 0 0 0 4 0 0 0 1 0 0 16.82 174419 chr9 75387352 75387352 C T rs201230747 TMC1 Synonymous SNV L255L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 174420 chr15 41794246 41794246 G A rs140599842 ITPKA Synonymous SNV R285R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.87 174421 chr16 81388029 81388029 C G GAN Nonsynonymous SNV T101R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 174422 chr9 77613562 77613562 T C rs745857196 CARNMT1 Nonsynonymous SNV N209D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.51 174423 chr12 118511699 118511699 T C VSIG10 Nonsynonymous SNV I342V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 174424 chr9 78938105 78938105 G A rs756611494 PCSK5 Nonsynonymous SNV E1387K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.277 174425 chr15 42127837 42127837 C T rs777300066 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV T175I 0 0.003 0 0 0 1 0 0 0 0 0 0 31 174426 chr16 25228694 25228694 C T rs199576560 AQP8 Nonsynonymous SNV T63I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.97 174427 chr12 113388598 113388598 G A rs115666428 OAS3 Nonsynonymous SNV R492H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.789 174428 chr15 38591730 38591730 G A SPRED1 Synonymous SNV E63E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.801 174429 chr16 28969912 28969914 ATG - rs574980254 MIR4517 0.001 0 0 0 1 0 0 0 0 0 0 0 174430 chr12 122255372 122255372 G A rs199987652 SETD1B Nonsynonymous SNV R1025Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 174431 chr12 121222374 121222374 G A rs750936417 SPPL3 Synonymous SNV T71T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.317 174432 chr16 85111120 85111120 G A rs755537260 KIAA0513 Nonsynonymous SNV E222K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 174433 chr16 30750645 30750645 A G rs757247378 SRCAP Nonsynonymous SNV D3095G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 174434 chr12 123812018 123812018 A C rs762333581 SBNO1 Synonymous SNV L549L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 174435 chr15 50475069 50475069 T A rs753943953 SLC27A2 Nonsynonymous SNV C149S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.58 174436 chr15 42139703 42139703 C T rs141583854 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV R706W 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 26.9 174437 chr12 123355460 123355460 T C VPS37B Nonsynonymous SNV Y87C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 174438 chr11 66617703 66617703 G A rs73489729 PC Synonymous SNV G902G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 7.581 174439 chr17 41352296 41352296 G T NBR1 Nonsynonymous SNV E692D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.569 174440 chr15 52446143 52446143 C G rs763851540 GNB5 Synonymous SNV S81S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.68 174441 chr17 27896342 27896342 C G rs112563021 TP53I13 Nonsynonymous SNV P25A 0.005 0.01 0.003 1 6 4 0.003 1 0 0 0 0 18.23 174442 chr9 101817602 101817602 G A rs140199394 COL15A1 Nonsynonymous SNV G1047D 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 0.019 174443 chr15 42740364 42740364 G A rs142375898 ZNF106 Nonsynonymous SNV S176F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.4 174444 chr15 42984817 42984818 TC - rs751787118 STARD9 L3682Pfs*35 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 174445 chr16 88783065 88783065 C T rs373525869 PIEZO1 Synonymous SNV A2276A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 13.26 174446 chr16 3611778 3611778 T C NLRC3 Nonsynonymous SNV N647S 0.005 0.003 0 5 6 1 0.013 0 0 0 0 0 23.1 174447 chr9 107331716 107331716 A G rs139563439 OR13C8 Nonsynonymous SNV K90E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.77 174448 chr17 3195336 3195336 A G rs61734042 OR3A1 Nonsynonymous SNV Y181H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 25.9 174449 chr17 3195353 3195353 T C rs61734043 OR3A1 Nonsynonymous SNV N175S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 4.928 174450 chr17 3195603 3195603 T A rs7218125 OR3A1 Stop gain K92X 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Benign 28.4 174451 chr16 88930781 88930781 G A rs764218577 PABPN1L Nonsynonymous SNV P221S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.38 174452 chr12 132636038 132636038 C T rs147227024 NOC4L Synonymous SNV P361P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.064 174453 chr15 59806595 59806595 A G rs763017232 FAM81A Nonsynonymous SNV Q253R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 174454 chr15 60720819 60720819 A C rs117095293 ICE2 Nonsynonymous SNV S740A 0.003 0.008 0.02 0 3 3 0 6 0 0 1 0 24.7 174455 chr15 60792103 60792103 T A rs117458658 RORA Synonymous SNV G410G 0.004 0.008 0.02 0 5 3 0 6 1 0 1 0 13.26 174456 chr15 45431333 45431333 C T rs141154319 DUOX1 Stop gain R395X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 37 174457 chr11 71164426 71164429 GAGT - NADSYN1 S29Yfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 174458 chr15 63579747 63579747 T C APH1B 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 174459 chr17 3493600 3493600 C T TRPV1 Nonsynonymous SNV A231T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.1 174460 chr16 50745114 50745114 C T rs104895431 NOD2 Nonsynonymous SNV S404L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 174461 chr17 48156265 48156265 G A ITGA3 Nonsynonymous SNV G792E 0 0.003 0 0 0 1 0 0 0 0 0 0 32 174462 chr17 48267231 48267231 C G COL1A1 Nonsynonymous SNV A868P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 174463 chr16 54953113 54953113 C T rs188796926 CRNDE Synonymous SNV P47P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.061 174464 chr16 55518020 55518020 G A rs368486758 MMP2 Nonsynonymous SNV R108Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 174465 chr17 37673738 37673738 C A rs150411581 CDK12 Synonymous SNV I964I 0 0.008 0.003 0 0 3 0 1 0 0 0 0 17.43 174466 chr12 27849549 27849549 C T rs140878486 REP15 Synonymous SNV P18P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 174467 chr16 57466408 57466408 G A rs371436211 CIAPIN1 Synonymous SNV D194D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 10.55 174468 chr17 49231585 49231585 G C rs554170327 NME1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.068 174469 chr17 3832733 3832733 C T rs61731021 ATP2A3 Synonymous SNV S917S 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 10.67 174470 chr17 3833680 3833680 C T rs73330907 ATP2A3 Nonsynonymous SNV D887N 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 21.1 174471 chr17 16338283 16338283 C T rs200515976 TRPV2 Stop gain R732X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 37 174472 chr9 126144516 126144516 C T rs143737492 DENND1A Nonsynonymous SNV R753Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.658 174473 chr17 18874869 18874869 C T rs191412288 FAM83G Nonsynonymous SNV G759S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.8 174474 chr12 48578337 48578337 G C CCDC184 Nonsynonymous SNV E144D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.667 174475 chr17 39580595 39580595 G A rs140747125 KRT37 Nonsynonymous SNV P61S 0.001 0.01 0.007 3 1 4 0.008 2 0 0 0 0 8.94 174476 chr9 131071880 131071880 G A rs756535190 TRUB2 Synonymous SNV D271D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.088 174477 chr16 74640970 74640970 C G GLG1 Nonsynonymous SNV R8P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.2 174478 chr12 52306267 52306267 G A rs779236098 ACVRL1 Synonymous SNV L3L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.63 174479 chr9 131669673 131669673 C T rs201084502 LRRC8A Nonsynonymous SNV P77L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.987 174480 chr12 52631297 52631297 G A KRT7 Nonsynonymous SNV E181K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 174481 chr17 21438484 21438484 G A LINC02693 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.586 174482 chr17 40642649 40642649 A G ATP6V0A1 Nonsynonymous SNV N397D 0 0.008 0 0 0 3 0 0 0 0 0 0 24.4 174483 chr16 78011512 78011512 G A rs375418001 VAT1L Nonsynonymous SNV E394K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 174484 chr12 53344167 53344167 G A rs369948432 KRT18 Nonsynonymous SNV R158H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 174485 chr17 27251198 27251198 T C PHF12 Synonymous SNV L148L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.145 174486 chr17 55058562 55058562 T C rs926199316 SCPEP1 Nonsynonymous SNV S66P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 174487 chr12 49992722 49992722 G A rs140003810 FAM186B Nonsynonymous SNV A727V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.127 174488 chr9 134358153 134358153 C T rs560933264 PRRC2B Synonymous SNV N1744N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.53 174489 chr17 42433837 42433837 C T rs868514283 FAM171A2 Nonsynonymous SNV A187T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 174490 chr17 45754424 45754424 C T rs72628350 KPNB1 Synonymous SNV C533C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.73 174491 chr17 72540867 72540867 G A CD300C Nonsynonymous SNV T94I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.7 174492 chr12 6344465 6344465 G A rs35799798 CD9 Nonsynonymous SNV R71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 174493 chr12 112707598 112707598 C T rs140264125 HECTD4 Nonsynonymous SNV R744Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 174494 chr12 68708975 68708975 C T rs767465566 MDM1 Nonsynonymous SNV E138K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 174495 chr12 114804165 114804165 C T rs147405081 TBX5 Nonsynonymous SNV V213M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 174496 chr12 7303548 7303548 C T rs147076731 CLSTN3 Nonsynonymous SNV R806W 0 0 0.003 0 0 0 0 1 0 0 0 0 28 174497 chr17 70120269 70120269 A G SOX9 Nonsynonymous SNV N424S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.246 174498 chr10 3178729 3178729 G A rs76887485 PFKP Synonymous SNV S504S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.852 174499 chr16 88951594 88951594 C T rs61757659 CBFA2T3 Nonsynonymous SNV R240H 0.013 0.016 0.007 3 15 6 0.008 2 0 0 0 0 27.3 174500 chr17 56389613 56389613 T C rs145049537 TSPOAP1 Nonsynonymous SNV I797V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.005 174501 chr17 74944873 74944873 C T rs747278990 MGAT5B Nonsynonymous SNV R787C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 174502 chr12 81101691 81101691 C T MYF6 Nonsynonymous SNV P65S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 174503 chr17 39623212 39623212 C T rs776243436 KRT32 Synonymous SNV A122A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.211 174504 chr17 76435264 76435264 G A DNAH17 Nonsynonymous SNV L3905F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.363 174505 chr17 61498774 61498774 C G rs753770664 TANC2 Nonsynonymous SNV P1811A 0.002 0.01 0 0 2 4 0 0 0 0 0 0 16.87 174506 chr12 124017877 124017877 C T rs117058568 RILPL1 Synonymous SNV A51A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 22 174507 chr17 76993184 76993184 T C rs758562353 CANT1 Nonsynonymous SNV N174S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.76 174508 chr17 66270179 66270179 C T rs142630255 SLC16A6 Nonsynonymous SNV G89R 0 0.01 0 0 0 4 0 0 0 0 0 0 34 174509 chr10 21804087 21804087 G T SKIDA1 Nonsynonymous SNV Q889K 0 0 0 1 0 0 0.003 0 0 0 0 0 23 174510 chr10 23729361 23729361 C G rs141182498 OTUD1 Synonymous SNV V325V 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 10.28 174511 chr10 23729362 23729362 A T rs139969083 OTUD1 Nonsynonymous SNV S326C 0.009 0.01 0.007 4 11 4 0.01 2 0 0 0 0 15.33 174512 chr17 4445172 4445172 G A rs139744232 MYBBP1A Synonymous SNV L1034L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.663 174513 chr16 30673759 30673759 G A rs944523740 FBRS Nonsynonymous SNV D242N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 174514 chr16 31088544 31088544 C A rs150999363 ZNF646 Nonsynonymous SNV P300H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 174515 chr17 46052470 46052470 G A rs758942752 CDK5RAP3 Nonsynonymous SNV A7T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.273 174516 chr17 76510927 76510927 G A rs138375540 DNAH17 Nonsynonymous SNV R1348C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 174517 chr17 76803539 76803539 T C rs776783410 USP36 Synonymous SNV L529L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 174518 chr17 72861888 72861888 C T FDXR Nonsynonymous SNV A148T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 174519 chr17 4836289 4836289 G A rs181416431 GP1BA Synonymous SNV S130S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.11 174520 chr17 4873373 4873373 G A rs189574616 CAMTA2 Nonsynonymous SNV P1007S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.47 174521 chr17 27614283 27614283 T C rs777355063 NUFIP2 Synonymous SNV K243K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.228 174522 chr13 50678933 50678933 T C DLEU1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 174523 chr13 52439559 52439559 C T rs377356404 CCDC70 Synonymous SNV F4F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.849 174524 chr17 74289415 74289415 G C QRICH2 Nonsynonymous SNV L299V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 174525 chr17 55187420 55187420 C T rs76415802 AKAP1 Synonymous SNV S583S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.722 174526 chr17 55189893 55189893 A T rs150230283 AKAP1 Stop gain K673X 0 0.003 0 0 0 1 0 0 0 0 0 0 49 174527 chr17 55193551 55193551 C T rs116543447 AKAP1 Synonymous SNV N787N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.45 174528 chr17 29761092 29761092 C T rs759900859 RAB11FIP4 Synonymous SNV S96S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.21 174529 chr17 56729261 56729261 C A TEX14 Synonymous SNV G34G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.42 174530 chr17 60045591 60045591 T G rs746343657 MED13 Synonymous SNV P1332P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.431 174531 chr17 60753158 60753158 C T rs151074691 MRC2 Nonsynonymous SNV T526M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.5 174532 chr13 99087886 99087886 A G rs150432830 FARP1 Nonsynonymous SNV M734V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 174533 chr10 70333117 70333117 C T rs140752046 TET1 Nonsynonymous SNV A341V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 174534 chr17 61622531 61622531 C A rs146648647 KCNH6 Nonsynonymous SNV A830D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.92 174535 chr14 100759210 100759210 C T rs779841386 SLC25A29 Nonsynonymous SNV V42I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 174536 chr17 7678603 7678603 G A rs778869358 DNAH2 Synonymous SNV S1588S 0 0.008 0 0 0 3 0 0 0 0 0 0 2.454 174537 chr18 33607226 33607226 T C rs377194926 RPRD1A Synonymous SNV S178S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.52 174538 chr14 101348912 101348912 G A rs542145378 RTL1 Synonymous SNV Y738Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 174539 chr17 35993317 35993317 C T rs112740335 DDX52 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 174540 chr17 78013791 78013791 G A rs376842482 CCDC40 Nonsynonymous SNV E92K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.085 174541 chr18 43247925 43247925 G A rs184103202 SLC14A2 Synonymous SNV A615A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.71 174542 chr14 104216267 104216267 C T rs376964126 PPP1R13B Nonsynonymous SNV R278H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 174543 chr14 104618503 104618503 C T KIF26A Nonsynonymous SNV A147V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 174544 chr18 19395644 19395644 T C MIB1 Nonsynonymous SNV L516P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 174545 chr18 47095890 47095890 C T rs778959163 LIPG Synonymous SNV F181F 0 0.003 0 4 0 1 0.01 0 0 0 0 0 19.68 174546 chr14 105180901 105180901 C T rs773425934 INF2 Synonymous SNV P1134P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.083 174547 chr13 30107022 30107022 G A rs369646693 SLC7A1 Synonymous SNV A156A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.68 174548 chr17 38859921 38859921 A G KRT24 Nonsynonymous SNV S9P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.9 174549 chr16 66761663 66761663 G A rs778487216 DYNC1LI2 Nonsynonymous SNV R320W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 174550 chr17 80043205 80043205 G A FASN Nonsynonymous SNV T1399M 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 18.79 174551 chr17 80045121 80045121 C T rs146146551 FASN Nonsynonymous SNV V1078M 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 26.1 174552 chr10 91099216 91099216 G A rs779661976 IFIT3 Synonymous SNV L268L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.203 174553 chr17 72350664 72350664 G A rs199882589 KIF19 Nonsynonymous SNV R891Q 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 23.7 174554 chr13 49924993 49924993 G A rs200343559 CAB39L Stop gain R151X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 174555 chr10 98715032 98715032 A G LCOR Nonsynonymous SNV S219G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.571 174556 chr18 10773453 10773453 G A rs931317170 PIEZO2 Synonymous SNV D889D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.778 174557 chr14 24001828 24001828 A G rs929091430 ZFHX2 Nonsynonymous SNV M836T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 174558 chr17 40010029 40010029 T C rs146139123 KLHL11 Nonsynonymous SNV N697S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.016 174559 chr10 101659729 101659729 G A rs774494598 DNMBP Synonymous SNV Y515Y 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 10.27 174560 chr14 25101235 25101235 A C rs745798602 GZMB Nonsynonymous SNV S131R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 174561 chr14 31828158 31828158 T C rs771539480 HEATR5A Nonsynonymous SNV D726G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 174562 chr10 103897657 103897657 G A rs144038954 PPRC1 Synonymous SNV R68R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 174563 chr10 103901414 103901414 C T PPRC1 Nonsynonymous SNV T1050I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.298 174564 chr10 104176191 104176191 C T rs199612198 PSD Nonsynonymous SNV R202H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.99 174565 chr12 58124315 58124315 C T rs760919351 AGAP2 Synonymous SNV L797L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.231 174566 chr17 76435232 76435232 C G rs778331560 DNAH17 Nonsynonymous SNV E3915D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.5 174567 chr17 76486849 76486849 C T rs200638287 DNAH17 Synonymous SNV T2250T 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 18.32 174568 chr17 4389759 4389759 G C rs61734113 SPNS3 Nonsynonymous SNV R317P 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 24.4 174569 chr16 84494264 84494264 G T rs141229929 ATP2C2 Nonsynonymous SNV G629W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 28.8 174570 chr16 88778691 88778691 C T rs61744025 CTU2 Nonsynonymous SNV A31V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 5.131 174571 chr12 6484017 6484017 G A rs61758858 SCNN1A Nonsynonymous SNV P37L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 2.952 174572 chr16 88780813 88780813 G T rs61730418 CTU2 Nonsynonymous SNV G287C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 21.9 174573 chr16 88783233 88783233 C T rs2290901 PIEZO1 Nonsynonymous SNV R2245Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 7.474 174574 chr16 88786239 88786239 G A rs35015310 PIEZO1 Synonymous SNV Y2098Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 14.72 174575 chr16 88789012 88789012 T C rs114034093 PIEZO1 Nonsynonymous SNV N1585S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 0.017 174576 chr16 88793539 88793539 T C rs35100558 PIEZO1 Synonymous SNV T1121T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 0.014 174577 chr19 10225369 10225369 C T rs367750129 P2RY11, PPAN-P2RY11 Synonymous SNV A360A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.77 174578 chr17 76968549 76968549 G A LGALS3BP Synonymous SNV A289A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 174579 chr16 88804735 88804735 C T rs115486714 PIEZO1 Nonsynonymous SNV V250I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 10.46 174580 chr18 3457648 3457648 A G TGIF1 Nonsynonymous SNV T180A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.85 174581 chr12 68720679 68720679 G A rs145037466 MDM1 Nonsynonymous SNV P86S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.051 174582 chr16 88495353 88495353 G A rs919081661 ZNF469 Nonsynonymous SNV R492Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 8.62 174583 chr12 6958927 6958927 C T CDCA3 Nonsynonymous SNV A39T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.721 174584 chr16 89258725 89258725 C T rs749673851 CDH15 Synonymous SNV N576N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.74 174585 chr18 43422149 43422149 G A rs143689799 SIGLEC15 Synonymous SNV P328P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.491 174586 chr16 88502978 88502978 G A rs930113352 ZNF469 Nonsynonymous SNV G3034R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.5 174587 chr16 89294082 89294082 G A rs142208886 ZNF778 Synonymous SNV S434S 0.005 0.003 0 1 6 1 0.003 0 1 0 0 0 8.196 174588 chr16 90075827 90075827 C T rs201800670 DBNDD1 Nonsynonymous SNV E15K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.9 174589 chr17 10303756 10303756 A G rs35962914 MYH8 Nonsynonymous SNV M1229T 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 Benign/Likely benign 12.5 174590 chr17 48616249 48616249 - C rs773848705 EPN3 Frameshift insertion A232Sfs*31 0.002 0.003 0 0 2 1 0 0 0 0 0 0 174591 chr14 68038891 68038891 C G rs372893729 PLEKHH1 Nonsynonymous SNV A542G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 174592 chr17 10424643 10424643 C T rs34161789 MYH2 Nonsynonymous SNV R1927Q 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 174593 chr19 11347120 11347120 C T DOCK6 Nonsynonymous SNV R765H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 174594 chr10 123976198 123976198 C T rs139131571 TACC2 Synonymous SNV H545H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 174595 chr19 11485376 11485376 G C SWSAP1 Nonsynonymous SNV R7P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.24 174596 chr14 71485732 71485732 T C rs138176917 PCNX1 Synonymous SNV R890R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 5.174 174597 chr14 73220028 73220028 T C rs757651598 DPF3 Nonsynonymous SNV K82R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 174598 chr10 124357512 124357512 G A rs3980981 DMBT1 Synonymous SNV L481L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.503 174599 chr17 79970061 79970061 C G rs200650232 ASPSCR1 Nonsynonymous SNV R367G 0.002 0.01 0.003 2 2 4 0.005 1 0 0 0 0 3.652 174600 chr14 73425461 73425461 C T rs754976946 DCAF4 Nonsynonymous SNV P419L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 174601 chr10 124608862 124608862 C T rs147427263 FAM24B Synonymous SNV T62T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 174602 chr12 88478512 88478512 T A rs200817579 CEP290 Nonsynonymous SNV I1519L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 16.29 174603 chr17 1478993 1478993 G A rs144844603 SLC43A2 Nonsynonymous SNV R402W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 174604 chr14 75265754 75265754 C G rs781095594 YLPM1 Nonsynonymous SNV P1252A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 174605 chr19 13993748 13993748 G A C19orf57 Nonsynonymous SNV T476I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 174606 chr17 58234066 58234066 C T rs185476073 CA4 Synonymous SNV N86N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.42 174607 chr10 129903573 129903573 G C MKI67 Nonsynonymous SNV S1817R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.43 174608 chr18 61654420 61654420 C T SERPINB8 Nonsynonymous SNV P165S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.76 174609 chr19 1528927 1528927 C A PLK5 Nonsynonymous SNV P120Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.06 174610 chr14 92920262 92920262 A G rs139572787 SLC24A4 Nonsynonymous SNV Y300C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22 174611 chr18 72775205 72775205 C T ZNF407 Nonsynonymous SNV P1843L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 22.2 174612 chr17 66596598 66596600 GTT - rs767790452 FAM20A N70del 0.001 0 0 0 1 0 0 0 0 0 0 0 174613 chr18 76856500 76856500 G A rs200024987 ATP9B Synonymous SNV A48A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.644 174614 chr14 95107065 95107065 C T rs538506260 SERPINA13P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.13 174615 chr14 31585625 31585625 G A rs760922784 HECTD1 Nonsynonymous SNV T1812I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.6 174616 chr11 408745 408745 G A rs113922210 SIGIRR Synonymous SNV D52D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 0.746 174617 chr11 498911 498911 A G rs150759500 RNH1 Nonsynonymous SNV S213P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.02 174618 chr15 100889310 100889310 G A rs138864161 SPATA41 0 0 0.003 0 0 0 0 1 0 0 0 0 2.731 174619 chr15 100889311 100889311 G C rs149496710 SPATA41 0 0 0.003 0 0 0 0 1 0 0 0 0 0.911 174620 chr11 562311 562311 G T rs146119336 RASSF7 Synonymous SNV A119A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.13 174621 chr11 587452 587452 C T rs61746669 PHRF1 Synonymous SNV V136V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.79 174622 chr19 17441990 17441990 G A ANO8 Synonymous SNV A246A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.11 174623 chr19 10204243 10204243 T C rs140751462 ANGPTL6 Nonsynonymous SNV Y335C 0 0.008 0 0 0 3 0 0 0 0 0 0 26.3 174624 chr19 10206813 10206813 C A rs745889178 ANGPTL6 Nonsynonymous SNV V143L 0 0.008 0 0 0 3 0 0 0 0 0 0 23.4 174625 chr19 1032650 1032650 G A rs773842682 CNN2 Synonymous SNV G115G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.03 174626 chr15 25331737 25331737 A G rs144164686 SNHG14, SNORD116-17, SNORD116-19 0 0 0.014 0 0 0 0 4 0 0 0 0 13.4 174627 chr11 755962 755962 C G rs149640294 TALDO1 Nonsynonymous SNV L61V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 22 174628 chr11 763910 763910 C T rs142263629 TALDO1 Synonymous SNV N267N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 16.4 174629 chr11 802315 802315 G A rs112955474 PIDD1 Synonymous SNV T352T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.731 174630 chr11 802749 802749 G A rs147422285 PIDD1 Synonymous SNV D284D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.265 174631 chr11 803535 803535 G A rs111872411 PIDD1 Synonymous SNV N116N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 2.366 174632 chr19 10489074 10489074 C T TYK2 Synonymous SNV L3L 0 0.008 0 0 0 3 0 0 0 0 0 0 8.275 174633 chr15 34110833 34110833 C G rs755221573 RYR3 Nonsynonymous SNV P3547A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 174634 chr19 19136511 19136511 G C rs200488917 SUGP2 Nonsynonymous SNV L216V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.166 174635 chr19 11311104 11311104 G A rs773909645 DOCK6 Nonsynonymous SNV P1994L 0 0.008 0 0 0 3 0 0 0 0 0 0 21.2 174636 chr19 19654057 19654057 G T CILP2 Nonsynonymous SNV W326C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 174637 chr17 27893546 27893546 C T rs756159896 ABHD15 Nonsynonymous SNV G147S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.145 174638 chr19 11417304 11417304 T G TSPAN16 Nonsynonymous SNV Y134D 0 0.008 0 0 0 3 0 0 0 0 0 0 25.2 174639 chr17 27942782 27942782 T C rs377003436 CORO6 Nonsynonymous SNV M228V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.92 174640 chr19 12817070 12817070 G A rs767191919 TNPO2 Synonymous SNV L536L 0 0.008 0 0 0 3 0 0 0 0 0 0 11.15 174641 chr19 13059557 13059557 G A rs200493290 RAD23A Nonsynonymous SNV R177Q 0 0.008 0 0 0 3 0 0 0 0 0 0 29 174642 chr17 3195033 3195033 T C rs553536558 OR3A1 Nonsynonymous SNV T282A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.838 174643 chr19 14044133 14044133 G A rs372890896 PODNL1 Synonymous SNV H217H 0.001 0.013 0 0 1 5 0 0 0 0 0 0 0.911 174644 chr15 45434266 45434266 T C rs201198610 DUOX1 Nonsynonymous SNV F593S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.9 174645 chr15 45657037 45657037 C T rs749007953 GATM Nonsynonymous SNV G334R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 174646 chr19 15651433 15651433 C T rs767352854 CYP4F22 Nonsynonymous SNV R282W 0 0.008 0 0 0 3 0 0 0 0 0 0 Uncertain significance 28.7 174647 chr15 51792226 51792226 C T DMXL2 Synonymous SNV V1065V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.314 174648 chr15 52517163 52517163 A G rs202221052 MYO5C Synonymous SNV D1127D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.134 174649 chr15 53081285 53081285 C A rs149371557 ONECUT1 Nonsynonymous SNV G266V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.72 174650 chr13 50592985 50592985 C G KCNRG Nonsynonymous SNV A202G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.581 174651 chr15 55971618 55971618 T C rs368575060 PRTG Synonymous SNV P333P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.776 174652 chr17 79031739 79031739 C T rs760526430 BAIAP2 Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 174653 chr13 77642928 77642928 A G rs140994741 MYCBP2 Synonymous SNV A3981A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 174654 chr13 98662196 98662196 A G IPO5 Nonsynonymous SNV Q621R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.2 174655 chr15 65477488 65477488 G T rs1023923088 CLPX Nonsynonymous SNV P2T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 174656 chr19 33353427 33353427 C T rs79389353 SLC7A9 Nonsynonymous SNV A182T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Pathogenic/Likely pathogenic 18.3 174657 chr19 18109172 18109172 C G KCNN1 Nonsynonymous SNV S530C 0 0.008 0 0 0 3 0 0 0 0 0 0 22.7 174658 chr17 80041948 80041948 G A rs368052188 FASN Synonymous SNV P1667P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 7.732 174659 chr17 80048927 80048927 C T rs41283367 FASN Nonsynonymous SNV R504H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.3 174660 chr15 67224019 67224019 G C rs763697597 LINC02206 0 0 0.003 0 0 0 0 1 0 0 0 0 9.526 174661 chr19 18971722 18971722 C T rs367795323 UPF1 Synonymous SNV Y807Y 0 0.016 0 0 0 6 0 0 0 1 0 0 14.18 174662 chr15 72454690 72454690 A G rs71395065 GRAMD2A Nonsynonymous SNV Y329H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.6 174663 chr19 19231900 19231900 G A rs376707217 TMEM161A Synonymous SNV T227T 0 0.008 0 0 0 3 0 0 0 0 0 0 13.28 174664 chr19 11617220 11617220 T C rs774762405 ECSIT Nonsynonymous SNV M145V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.47 174665 chr19 19654100 19654100 G A rs781606092 CILP2 Nonsynonymous SNV G341R 0 0.008 0 0 0 3 0 0 0 0 0 0 24.6 174666 chr17 8370299 8370299 G A rs777837051 NDEL1 Synonymous SNV S332S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.502 174667 chr19 2248382 2248402 CTCCCGGGGTCCATCCGTCGG - rs762099325 SF3A2 S417_P423del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 174668 chr15 78393281 78393281 C A rs189869737 SH2D7 Nonsynonymous SNV S229Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 174669 chr19 2251247 2251247 A G rs140765565 AMH Nonsynonymous SNV Q325R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 22.8 174670 chr19 13993678 13993678 - AGGG rs769185430 C19orf57 Frameshift insertion Y501Afs*114 0.004 0.003 0 0 5 1 0 0 0 0 0 0 174671 chr19 14741018 14741018 T C rs1005850058 ADGRE3 Nonsynonymous SNV M423V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.04 174672 chr15 82335884 82335884 G A rs776194099 MEX3B Nonsynonymous SNV P443S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 174673 chr19 39914406 39914406 G A PLEKHG2 Nonsynonymous SNV C819Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 174674 chr19 2934175 2934175 G A rs151130031 ZNF77 Nonsynonymous SNV T317M 0 0.005 0 0 0 2 0 0 0 0 0 0 16.78 174675 chr19 41704370 41704370 G A rs45457494 CYP2S1 Nonsynonymous SNV R166H 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 11.36 174676 chr15 89021199 89021199 C T rs147829843 MRPS11 Nonsynonymous SNV R159W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 174677 chr15 89401972 89401972 G A ACAN Synonymous SNV Q2052Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.562 174678 chr15 90784779 90784779 G A rs200655681 GDPGP1 Synonymous SNV S213S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.333 174679 chr15 90904061 90904061 A G rs373348268 ZNF774 Nonsynonymous SNV H333R 0 0 0.003 0 0 0 0 1 0 0 0 0 16 174680 chr18 3534199 3534199 G C rs73939849 DLGAP1 Synonymous SNV P522P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.167 174681 chr11 7509386 7509386 C T rs141351486 OLFML1 Nonsynonymous SNV T53M 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 23.2 174682 chr19 44419263 44419263 G C rs137907170 ZNF45 Nonsynonymous SNV Q109E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.539 174683 chr19 37117536 37117536 G A rs138130354 ZNF382 Nonsynonymous SNV G245E 0 0.01 0 0 0 4 0 0 0 0 0 0 6.501 174684 chr18 47918506 47918506 C T rs750344908 SKA1 Synonymous SNV F219F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 174685 chr16 1252142 1252142 C T CACNA1H Synonymous SNV R564R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.781 174686 chr19 42583340 42583340 T G rs765141436 ZNF574 Synonymous SNV T284T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.253 174687 chr18 55328511 55328511 C T rs750735500 ATP8B1 Nonsynonymous SNV V818I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 174688 chr15 42981744 42981744 C G rs572122353 STARD9 Nonsynonymous SNV D2656E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.755 174689 chr19 38380816 38380816 G A rs530588985 WDR87 Synonymous SNV A1165A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.546 174690 chr19 38800262 38800262 A C YIF1B Nonsynonymous SNV V12G 0 0.01 0 0 0 4 0 0 0 0 0 0 11.05 174691 chr14 31852926 31852926 C T rs200562122 HEATR5A Nonsynonymous SNV R466Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 174692 chr16 1607947 1607947 C T rs761593016 IFT140 Synonymous SNV K796K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 174693 chr15 43815819 43815819 G A rs202004659 MAP1A Synonymous SNV S716S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.695 174694 chr18 59854894 59854894 G C rs200431709 RELCH Synonymous SNV A52A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.858 174695 chr18 60241929 60241929 C A rs200293690 ZCCHC2 Nonsynonymous SNV A872E 0.003 0.005 0 1 3 2 0.003 0 1 0 0 0 23.1 174696 chr18 61034265 61034265 G T KDSR Synonymous SNV A29A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 174697 chr14 39784005 39784008 TATA - rs577313725 MIA2 0 0 0.007 1 0 0 0.003 2 0 0 0 0 174698 chr19 19390163 19390163 G A rs765736375 SUGP1 Nonsynonymous SNV R463W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 174699 chr15 48519351 48519351 C T rs542887375 SLC12A1 Nonsynonymous SNV T235M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 174700 chr18 66506039 66506039 G A rs61910729 CCDC102B Nonsynonymous SNV G235S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.028 174701 chr18 66513592 66513592 G A rs147849810 CCDC102B Synonymous SNV S290S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 10.59 174702 chr11 12376354 12376354 A G rs754247619 MICALCL Nonsynonymous SNV D618G 0 0.008 0 2 0 3 0.005 0 0 0 0 0 32 174703 chr11 12549408 12549408 G A rs371222319 PARVA Nonsynonymous SNV C352Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.03 174704 chr19 45579337 45579337 G A ZNF296 Nonsynonymous SNV P99S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 174705 chr16 22360663 22360663 T C CDR2 Nonsynonymous SNV K148R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 174706 chr19 44792035 44792035 T A rs758893141 ZNF235 Nonsynonymous SNV N518I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 174707 chr15 54305614 54305614 A T rs767826609 UNC13C Nonsynonymous SNV T172S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.555 174708 chr16 24124365 24124365 A G rs147975795 PRKCB Nonsynonymous SNV N298S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.44 174709 chr15 56132707 56132707 T C NEDD4 Nonsynonymous SNV I1004V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 174710 chr19 4511639 4511639 T A PLIN4 Nonsynonymous SNV K778I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 174711 chr16 2814911 2814911 G T rs149555495 SRRM2 Nonsynonymous SNV G1461V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 174712 chr19 47280575 47280575 G A rs11541232 SLC1A5 Synonymous SNV G180G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.31 174713 chr19 42729241 42729241 A G rs752820128 ZNF526 Nonsynonymous SNV N229S 0 0.008 0 0 0 3 0 0 0 0 0 0 11.55 174714 chr16 28962563 28962571 GCCCCCGGG - rs747938318 NFATC2IP P79_P81del 0 0 0.003 0 0 0 0 1 0 0 0 0 174715 chr16 29998271 29998271 C G TAOK2 Nonsynonymous SNV P893R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 174716 chr16 30621294 30621294 G A ZNF689 Synonymous SNV G23G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 174717 chr14 63174573 63174573 G A rs754436628 KCNH5 Nonsynonymous SNV R874C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 174718 chr14 64606781 64606781 A G rs202029221 SYNE2 Nonsynonymous SNV N4989S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.758 174719 chr19 1037806 1037806 - AC CNN2 Frameshift insertion A241Tfs*61 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 174720 chr19 1037809 1037810 CG - CNN2 D242Wfs*17 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 174721 chr14 65242067 65242067 T G rs61989884 SPTB Synonymous SNV R1540R 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Benign/Likely benign 7.872 174722 chr14 68273292 68273292 G A rs761049302 ZFYVE26 Synonymous SNV S329S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 11.14 174723 chr16 4786589 4786589 C G C16orf71 Nonsynonymous SNV A25G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 174724 chr16 48139122 48139122 G T rs148467252 ABCC12 Synonymous SNV V867V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.294 174725 chr19 45211337 45211337 G C CEACAM16 Nonsynonymous SNV G382A 0 0.008 0 0 0 3 0 0 0 0 0 0 23.3 174726 chr19 12886252 12886252 G C HOOK2 Nonsynonymous SNV D4E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 174727 chr16 570233 570233 G A rs72767836 RAB11FIP3 Nonsynonymous SNV A348T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.168 174728 chr14 77809529 77809529 T C rs137933758 TMED8 Nonsynonymous SNV E256G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 174729 chr19 48024805 48024805 G C rs745715368 ZNF541 Nonsynonymous SNV S1273C 0 0.005 0 0 0 2 0 0 0 0 0 0 21.1 174730 chr16 67325566 67325566 G A rs149278976 KCTD19 Nonsynonymous SNV A798V 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 16.09 174731 chr19 49106956 49106956 G A FAM83E Nonsynonymous SNV S324L 0 0.005 0 0 0 2 0 0 0 0 0 0 13.04 174732 chr19 40720883 40720883 G A rs149852844 MAP3K10 Nonsynonymous SNV R850H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 174733 chr19 49518347 49518347 G A rs774545061 RUVBL2 Synonymous SNV T363T 0 0.005 0 0 0 2 0 0 0 0 0 0 16.3 174734 chr16 70697667 70697667 C T rs373730605 MTSS2 Synonymous SNV P719P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 174735 chr19 52869241 52869241 T C rs117897872 ZNF610 Nonsynonymous SNV Y161H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.67 174736 chr16 72134450 72134450 A G rs557516542 DHX38 Nonsynonymous SNV N411S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 174737 chr16 72821344 72821344 G A rs200992486 ZFHX3 Nonsynonymous SNV H2697Y 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 8.21 174738 chr16 75446501 75446501 C T rs868047498 CFDP1 Nonsynonymous SNV E112K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 174739 chr19 17441772 17441772 G T ANO8 Synonymous SNV V286V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.175 174740 chr19 50411610 50411610 C T NUP62 Synonymous SNV L485L 0 0.005 0 0 0 2 0 0 0 0 0 0 10.16 174741 chr19 17547604 17547604 C A rs200700030 TMEM221 Nonsynonymous SNV R180L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 174742 chr17 9532122 9532122 A - rs779903938 CFAP52 S320Afs*21 0 0.003 0 0 0 1 0 0 0 0 0 0 174743 chr19 51359580 51359580 C G KLK3 Nonsynonymous SNV S44C 0 0.005 0 0 0 2 0 0 0 0 0 0 0.024 174744 chr19 54760439 54760439 A G rs372018666 LILRB5 Nonsynonymous SNV Y90H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 174745 chr19 18995064 18995064 C T CERS1 Nonsynonymous SNV G43D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 174746 chr19 53854857 53854857 G A rs565297561 ZNF845 Nonsynonymous SNV R310Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.896 174747 chr19 20117080 20117080 T C rs761895895 ZNF682 Nonsynonymous SNV I379V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 174748 chr16 88504281 88504281 G T ZNF469 Nonsynonymous SNV G3468V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.05 174749 chr19 23542413 23542413 T G ZNF91 Nonsynonymous SNV K1091T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.978 174750 chr19 23542419 23542420 AG - ZNF91 L1089Yfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 174751 chr19 23544569 23544569 T C rs200346430 ZNF91 Synonymous SNV K372K 0.011 0.005 0.003 3 13 2 0.008 1 0 0 0 0 0.59 174752 chr16 16230427 16230427 C T rs34526519 ABCC1 Synonymous SNV A1406A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.05 174753 chr16 16259497 16259497 G T rs60707953 ABCC6 Nonsynonymous SNV L1097I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 8.273 174754 chr19 55748035 55748035 C T rs756731913 PPP6R1 Nonsynonymous SNV R655H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 174755 chr19 46196674 46196674 C T QPCTL Nonsynonymous SNV P71S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 174756 chr16 89294260 89294260 A C rs376434654 ZNF778 Nonsynonymous SNV K494Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.76 174757 chr19 53409929 53409929 C G ZNF888 Nonsynonymous SNV R549P 0 0.008 0 0 0 3 0 0 0 0 0 0 8.123 174758 chr16 89351740 89351740 G T ANKRD11 Nonsynonymous SNV H404N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 174759 chr16 89644062 89644062 A G rs547662887 CPNE7 Nonsynonymous SNV H97R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 174760 chr19 47548800 47548800 A G rs748739875 NPAS1 Nonsynonymous SNV H555R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.036 174761 chr16 89986000 89986000 G A rs750319061 MC1R Nonsynonymous SNV V112M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.424 174762 chr19 33892708 33892708 C T rs370970279 PEPD Nonsynonymous SNV G255S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 174763 chr19 5705880 5705880 G A rs1037684027 LONP1 Nonsynonymous SNV R228C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 174764 chr19 57133044 57133044 A G rs762189547 ZNF71 Nonsynonymous SNV Y130C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.85 174765 chr19 54933508 54933508 G A rs369627709 TTYH1 Nonsynonymous SNV G188R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 174766 chr19 55098736 55098736 G C rs73939007 LILRA2 Nonsynonymous SNV V430L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.128 174767 chr19 55098742 55098742 G T rs73939008 LILRA2 Nonsynonymous SNV V432L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.483 174768 chr17 16075177 16075177 C T rs146152906 NCOR1 Synonymous SNV A125A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 174769 chr17 16323455 16323455 G A rs201224319 TRPV2 Nonsynonymous SNV R76Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28 174770 chr19 36212516 36212516 - ACAGCCACAGCT rs564202766 KMT2B P762_P763insQLQP 0.003 0.005 0 0 3 2 0 0 0 0 0 0 174771 chr19 55602910 55602910 C T rs200677433 PPP1R12C Nonsynonymous SNV R758H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 174772 chr19 36255774 36255774 C T rs758685621 PROSER3 Nonsynonymous SNV S188L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 174773 chr17 18042911 18042911 C G MYO15A Nonsynonymous SNV R1733G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 174774 chr17 18060474 18060474 C T rs745852989 MYO15A Synonymous SNV Y2906Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.054 174775 chr19 50387524 50387524 C T rs142401175 TBC1D17 Nonsynonymous SNV R348C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 174776 chr19 50473164 50473164 T C rs571130349 SIGLEC16 Nonsynonymous SNV Y46H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.221 174777 chr19 50958794 50958794 T C rs139649326 MYBPC2 Nonsynonymous SNV I744T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 174778 chr19 7532486 7532486 C G ARHGEF18 Synonymous SNV R890R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.975 174779 chr15 65490947 65490947 C G CILP Nonsynonymous SNV K559N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.48 174780 chr15 67596732 67596732 G C rs565492872 IQCH Nonsynonymous SNV R148T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.93 174781 chr19 7990359 7990359 G A CTXN1 Nonsynonymous SNV A22V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 174782 chr19 40419787 40419787 G A rs139824900 FCGBP Synonymous SNV A1069A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.67 174783 chr11 68704087 68704087 C T rs199879444 IGHMBP2 Synonymous SNV N713N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.411 174784 chr17 30469471 30469476 CCGCCG - LOC105371730 0 0 0.007 0 0 0 0 2 0 0 1 0 174785 chr11 70002021 70002021 G A rs547479598 ANO1 Nonsynonymous SNV R477H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.8 174786 chr19 58490298 58490298 T C rs769195808 ZNF606 Nonsynonymous SNV I494V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.07 174787 chr19 8326874 8326874 G A rs772695825 CERS4 Nonsynonymous SNV A356T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 174788 chr19 58797098 58797098 C T rs149035373 ZNF8 Nonsynonymous SNV R28W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 174789 chr17 34068293 34068293 C G rs587700585 RASL10B Nonsynonymous SNV A194G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 33 174790 chr15 78635864 78635864 G A rs778818601 CRABP1 Synonymous SNV E91E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.65 174791 chr19 42471840 42471840 G A rs782437931 ATP1A3 Synonymous SNV D976D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.53 174792 chr11 74876960 74876960 C G SLCO2B1 Nonsynonymous SNV I116M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.2 174793 chr19 42827861 42827861 G T TMEM145 Nonsynonymous SNV V455F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 174794 chr19 14164489 14164489 T C rs763949331 PALM3 Synonymous SNV P599P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.324 174795 chr19 14281582 14281582 G A rs147877654 ADGRL1 Synonymous SNV C102C 0.008 0.003 0.007 0 9 1 0 2 0 0 0 0 4.094 174796 chr19 14521926 14521928 TTC - DDX39A K162del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 174797 chr17 37898651 37898651 A G rs371080159 GRB7 Nonsynonymous SNV T33A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 174798 chr15 83796120 83796120 A G rs758379606 TM6SF1 Nonsynonymous SNV I164M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 174799 chr19 9057327 9057327 G C MUC16 Nonsynonymous SNV P10040R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.155 174800 chr15 84683414 84683414 A T rs758864772 ADAMTSL3 Nonsynonymous SNV Y1365F 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 174801 chr19 54941732 54941732 C T rs751833410 TTYH1 Synonymous SNV I296I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.14 174802 chr16 61687534 61687534 C T rs376647854 CDH8 Nonsynonymous SNV G793D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 174803 chr19 687035 687035 T A rs150190105 PRSS57 Stop gain K178X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 174804 chr17 39383182 39383182 G A rs147340082 KRTAP9-2 Synonymous SNV G92G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.586 174805 chr19 9057924 9057924 G C MUC16 Nonsynonymous SNV P9841R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 174806 chr11 93400902 93400902 C A rs7128850 CEP295 Nonsynonymous SNV Q80K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 2.401 174807 chr19 55543532 55543532 G A rs768168959 GP6 Synonymous SNV S100S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.19 174808 chr15 88576214 88576214 C T rs750565995 NTRK3 Nonsynonymous SNV G487S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 174809 chr11 94597990 94597990 G T AMOTL1 Synonymous SNV V692V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.376 174810 chr19 968416 968416 C T rs781106095 ARID3A Nonsynonymous SNV R503C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 174811 chr19 7986651 7986651 T A rs201639553 SNAPC2 Nonsynonymous SNV F122Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 174812 chr19 10597451 10597451 G A rs765886418 KEAP1 Synonymous SNV Y584Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 3.374 174813 chr19 10745523 10745523 C T rs114046427 SLC44A2 Synonymous SNV F303F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 17.46 174814 chr19 17337659 17337659 C A rs200297320 OCEL1 Nonsynonymous SNV P76Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.6 174815 chr11 103025492 103025492 A C DYNC2H1 Nonsynonymous SNV H1176P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 174816 chr19 11233915 11233915 G A rs547268730 LDLR Nonsynonymous SNV V568I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 174817 chr19 9225896 9225896 C T rs147939135 OR7G1 Nonsynonymous SNV V182I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.48 174818 chr17 40317526 40317526 A G KCNH4 Nonsynonymous SNV F676L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 174819 chr19 9362472 9362472 G A rs559282731 OR7E24 Synonymous SNV G251G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.256 174820 chr19 11512790 11512790 G A rs565401547 RGL3 Nonsynonymous SNV R461C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 35 174821 chr11 108256684 108256684 C T rs141492887 C11orf65 Synonymous SNV K201K 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 14.12 174822 chr19 48048986 48048986 G A rs575921745 ZNF541 Nonsynonymous SNV S267F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 174823 chr19 57133847 57133847 A G rs767519020 ZNF71 Nonsynonymous SNV I398V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.118 174824 chr1 107867446 107867446 G A NTNG1 Synonymous SNV R263R 0.003 0 0 0 4 0 0 0 0 0 0 0 8.955 174825 chr11 113570337 113570337 C T rs767241158 TMPRSS5 Nonsynonymous SNV G18D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 174826 chr19 14024442 14024442 A C rs556056976 CC2D1A Nonsynonymous SNV M247L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 3.063 174827 chr17 4436354 4436354 C T rs61746307 SPNS2 Synonymous SNV L340L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.251 174828 chr17 4439654 4439654 C G rs752706580 SPNS2 Nonsynonymous SNV L514V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 174829 chr17 4439655 4439655 T G rs777658461 SPNS2 Nonsynonymous SNV L514R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 174830 chr1 109801573 109801573 C T rs561330579 CELSR2 Nonsynonymous SNV P1277L 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely pathogenic 25.6 174831 chr19 49132575 49132575 C T rs139877170 SPHK2 Nonsynonymous SNV P468S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.83 174832 chr17 46878695 46878695 G T TTLL6 Nonsynonymous SNV A178D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 174833 chr16 11785802 11785802 G A rs189069276 TXNDC11 Nonsynonymous SNV P201L 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 0.717 174834 chr11 117789177 117789177 C T rs751395333 TMPRSS13 Nonsynonymous SNV R133Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.47 174835 chr19 9296994 9296994 C T rs560821814 OR7D2 Synonymous SNV C179C 0 0.008 0 0 0 3 0 0 0 0 0 0 10.18 174836 chr19 994265 994265 C T rs370251606 WDR18 Synonymous SNV D407D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.25 174837 chr17 48678100 48678100 G A rs150972562 CACNA1G Nonsynonymous SNV R1212Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28 174838 chr17 4904672 4904672 A G rs142773987 KIF1C Synonymous SNV P113P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.689 174839 chr19 50169157 50169157 A T rs973664955 BCL2L12 Nonsynonymous SNV H26L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 174840 chr1 109635578 109635578 A C rs149500592 TMEM167B Nonsynonymous SNV K26T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.4 174841 chr17 54520211 54520211 A T rs138097635 ANKFN1 Nonsynonymous SNV Q342L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.57 174842 chr19 30433525 30433525 C T rs754863175 URI1 Nonsynonymous SNV P24L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 174843 chr17 56284442 56284454 TCACCTTGAAGGA - MKS1 S264_K266del 0 0 0.003 0 0 0 0 1 0 0 0 0 174844 chr17 56327920 56327920 G A rs150076343 LPO Nonsynonymous SNV E157K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.89 174845 chr19 50812967 50812967 G A rs754454549 MYH14 Nonsynonymous SNV D1970N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 174846 chr19 51015420 51015420 C T rs201218298 ASPDH Nonsynonymous SNV V156I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.5 174847 chr1 145560242 145560242 G A ANKRD35 Nonsynonymous SNV S153N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.063 174848 chr17 60767649 60767649 G A rs143179241 MRC2 Nonsynonymous SNV R1292Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 174849 chr16 89167386 89167386 C T rs59213357 ACSF3 Synonymous SNV S99S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.37 174850 chr19 51581412 51581412 T C rs201296079 KLK14 Nonsynonymous SNV D203G 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 29.3 174851 chr16 89289570 89289570 G A rs182828753 ZNF778 Synonymous SNV A41A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.659 174852 chr19 1827927 1827927 T G rs144940979 REXO1 Synonymous SNV S287S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.066 174853 chr1 145608635 145608635 C T rs143124077 POLR3C Nonsynonymous SNV V71I 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 0.137 174854 chr19 18330088 18330088 G C rs147234546 PDE4C Nonsynonymous SNV P77A 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 23 174855 chr19 52000164 52000164 G A rs145034575 SIGLEC12 Synonymous SNV D405D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.012 174856 chr19 52000167 52000167 C T rs149105563 SIGLEC12 Synonymous SNV E404E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.047 174857 chr11 130289012 130289012 C T rs200304717 ADAMTS8 Nonsynonymous SNV R299H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.19 174858 chr17 65908998 65908998 C T rs374172446 BPTF Synonymous SNV T1666T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.246 174859 chr19 35997052 35997052 G A rs199745979 DMKN Synonymous SNV D297D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.186 174860 chr16 89649889 89649889 G A rs150595837 CPNE7 Nonsynonymous SNV A179T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.6 174861 chr16 89661940 89661940 C T rs140352806 CPNE7 Synonymous SNV L490L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 174862 chr16 89790059 89790059 G A rs4516230 ZNF276 Synonymous SNV A316A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.312 174863 chr16 89881015 89881015 C A rs753727231 FANCA Nonsynonymous SNV G66C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 174864 chr19 1912866 1912866 C T rs536220756 ADAT3 Stop gain Q258X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 174865 chr1 117635507 117635507 T C rs76420409 TTF2 Nonsynonymous SNV M987T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign 0.001 174866 chr19 19136099 19136099 G C rs199867355 SUGP2 Nonsynonymous SNV T353S 0.005 0.003 0.003 0 6 1 0 1 1 0 0 0 24.3 174867 chr12 420120 420120 T C KDM5A Synonymous SNV A1049A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.455 174868 chr1 153955069 153955069 C T rs149250462 RAB13 Nonsynonymous SNV R60Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.55 174869 chr1 153964542 153964542 A T rs138950537 RPS27 Synonymous SNV G76G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.37 174870 chr1 152329307 152329307 A T rs147381497 FLG2 Nonsynonymous SNV S319T 0.003 0 0 0 4 0 0 0 0 0 0 0 21 174871 chr1 12059145 12059145 T C rs771996573 MFN2 Nonsynonymous SNV M270T 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 25.3 174872 chr16 30664125 30664125 C T rs775548272 PRR14 Synonymous SNV A92A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.825 174873 chr1 153536209 153536209 C T rs183265370 S100A2 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 174874 chr17 72436081 72436081 G A rs781544471 GPRC5C Nonsynonymous SNV V56M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 174875 chr19 37854197 37854197 G A rs150608212 ZNF875 Synonymous SNV T440T 0.009 0.008 0.003 2 10 3 0.005 1 0 0 0 0 6.184 174876 chr19 38817628 38817628 G A rs35496032 KCNK6 Nonsynonymous SNV V240I 0.003 0.008 0 0 3 3 0 0 0 0 0 0 27.1 174877 chr19 54942052 54942052 G A TTYH1 Nonsynonymous SNV R334Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 174878 chr17 74099494 74099495 AG - rs772123087 EXOC7 L25Vfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 174879 chr1 156846287 156846287 C T rs6335 NTRK1 Synonymous SNV F570F 0.005 0 0.003 0 6 0 0 1 1 0 0 0 Benign 18.7 174880 chr1 108185282 108185282 C T rs144725884 VAV3 Nonsynonymous SNV V65I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.239 174881 chr1 1597377 1597377 G A rs181174644 SLC35E2B Synonymous SNV A354A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.972 174882 chr1 159824697 159824697 G C rs563047828 VSIG8 Nonsynonymous SNV P364R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.2 174883 chr1 152327656 152327656 G A rs34309186 FLG2 Nonsynonymous SNV S869F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.24 174884 chr1 152327658 152327658 T A rs12724005 FLG2 Synonymous SNV T868T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.78 174885 chr1 109294920 109294920 G A rs767712280 STXBP3 Nonsynonymous SNV E31K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 174886 chr19 40715074 40715074 G T rs138312258 MAP3K10 Synonymous SNV G500G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.645 174887 chr17 76818020 76818020 G A rs200234804 USP36 Synonymous SNV R252R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.36 174888 chr1 153651591 153651591 G A NPR1 Nonsynonymous SNV G3R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.358 174889 chr19 56006059 56006059 G A rs376812685 SSC5D Synonymous SNV P432P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.458 174890 chr1 155003120 155003120 G A DCST2 Synonymous SNV P269P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.23 174891 chr1 11307885 11307885 T C MTOR Synonymous SNV K369K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.79 174892 chr1 155270017 155270017 C T rs752093404 PKLR Nonsynonymous SNV G52D 0.002 0.013 0 0 2 5 0 0 0 0 0 0 26.9 174893 chr17 79226320 79226320 C T rs764289478 SLC38A10 Synonymous SNV P540P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.3 174894 chr1 115218211 115218211 G A AMPD1 Nonsynonymous SNV S569F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 174895 chr17 79518094 79518094 G A FAAP100 Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.183 174896 chr17 79673983 79673983 C T rs777645473 MRPL12 Synonymous SNV T131T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 174897 chr17 79826509 79826509 C T rs189865523 ARHGDIA Nonsynonymous SNV G249E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.88 174898 chr19 37733887 37733887 G A rs773964891 ZNF383 Nonsynonymous SNV G250D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.6 174899 chr16 69373207 69373207 G C rs144030835 COG8 Synonymous SNV A83A 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.798 174900 chr12 20522259 20522259 C A rs760476404 PDE3A Nonsynonymous SNV P14H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 174901 chr17 3324004 3324004 C T rs227789 OR3A3 Nonsynonymous SNV T48I 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 1.443 174902 chr16 70796449 70796449 C T VAC14 Synonymous SNV S221S 0.003 0 0 4 4 0 0.01 0 0 0 0 0 12.49 174903 chr19 39123282 39123282 C T rs371972989 EIF3K Nonsynonymous SNV R68C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.7 174904 chr1 169080732 169080732 G A rs144621395 ATP1B1 Synonymous SNV P74P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.6 174905 chr16 72828913 72828913 C T rs375390328 ZFHX3 Synonymous SNV A1642A 0.004 0 0 4 5 0 0.01 0 0 0 0 0 10.91 174906 chr16 74496043 74496043 G T GLG1 Synonymous SNV S984S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.419 174907 chr1 12052667 12052667 C T rs763489927 MFN2 Synonymous SNV D77D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.88 174908 chr18 18564483 18564483 G C rs45562542 ROCK1 Nonsynonymous SNV T773S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 12.92 174909 chr19 58846554 58846554 A T rs45473503 ZSCAN22 Nonsynonymous SNV Q129L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 174910 chr1 160012104 160012104 C T rs144495959 KCNJ10 Synonymous SNV A73A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.72 174911 chr19 58879118 58879118 G A rs202005567 ZNF837 Nonsynonymous SNV R528C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 174912 chr18 28681918 28681918 G A DSC2 Nonsynonymous SNV P6L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 174913 chr12 43887056 43887056 C G rs201183239 ADAMTS20 Nonsynonymous SNV V290L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 174914 chr12 44148180 44148180 C T rs147072734 PUS7L Nonsynonymous SNV R290K 0 0 0 1 0 0 0.003 0 0 0 0 0 22 174915 chr19 4217418 4217418 G A ANKRD24 Nonsynonymous SNV C754Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.644 174916 chr18 3129414 3129414 C T rs750751400 MYOM1 Synonymous SNV Q870Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.368 174917 chr19 47996287 47996287 A T NAPA Stop gain C164X 0 0.005 0 0 0 2 0 0 0 0 0 0 39 174918 chr1 183816717 183816717 G A RGL1 Synonymous SNV L50L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.41 174919 chr19 831729 831729 C T AZU1 Nonsynonymous SNV T203I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.8 174920 chr12 52215975 52215975 A G rs143821284 FIGNL2 Nonsynonymous SNV Y75H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.84 174921 chr12 52566150 52566150 G T KRT80 Nonsynonymous SNV A337D 0 0 0 1 0 0 0.003 0 0 0 0 0 31 174922 chr19 8381467 8381467 C T rs756774473 NDUFA7 Nonsynonymous SNV C55Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.35 174923 chr18 56149157 56149157 G A ALPK2 Synonymous SNV N2137N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.596 174924 chr1 155686885 155686885 C T rs373966776 DAP3 Nonsynonymous SNV P45L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.08 174925 chr12 53189776 53189776 G A rs200988929 KRT3 Synonymous SNV S17S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.69 174926 chr1 156823896 156823896 G A rs143166774 INSRR Synonymous SNV R95R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.082 174927 chr19 50919036 50919036 G A rs746950229 POLD1 Nonsynonymous SNV V951M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 31 174928 chr19 8999560 8999560 - C MUC16 Frameshift insertion K13539Efs*18 0.007 0.003 0 0 8 1 0 0 0 0 0 0 174929 chr12 53677885 53677885 C T rs749545882 ESPL1 Nonsynonymous SNV R1041C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 174930 chr19 9006385 9006385 A G rs201630633 MUC16 Synonymous SNV S13211S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.029 174931 chr18 7013997 7013997 G A rs34712919 LAMA1 Synonymous SNV T1060T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 9.281 174932 chr18 71985139 71985139 A G rs1050233716 C18orf63 Synonymous SNV T13T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.491 174933 chr19 9046040 9046040 G A MUC16 Nonsynonymous SNV T11864I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.93 174934 chr1 180012215 180012215 A G rs760504109 CEP350 Nonsynonymous SNV I1463V 0 0.005 0 0 0 2 0 0 0 0 0 0 22 174935 chr18 77894978 77894978 G A ADNP2 Nonsynonymous SNV R561K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 174936 chr1 20248888 20248888 G A rs369294108 PLA2G2E Synonymous SNV H63H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.186 174937 chr18 8825126 8825126 G A rs200633031 MTCL1 Synonymous SNV T1206T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.062 174938 chr12 57389623 57389623 G A rs34377647 GPR182 Synonymous SNV T210T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 2.178 174939 chr12 57432609 57432609 C G rs12297756 MYO1A Nonsynonymous SNV C506S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.724 174940 chr12 57548364 57548364 T C rs34574998 LRP1 Synonymous SNV P369P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.842 174941 chr12 57910838 57910838 G A rs35405310 DDIT3 Synonymous SNV S111S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.2 174942 chr19 4891207 4891207 C T rs199933763 ARRDC5 Nonsynonymous SNV E280K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 174943 chr12 58009384 58009384 T C rs34987074 ARHGEF25 Synonymous SNV G346G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 12.24 174944 chr12 58015213 58015213 G A rs112153680 LOC101927583 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.63 174945 chr12 58015432 58015432 G A rs113037972 LOC101927583 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 6.779 174946 chr12 58019195 58019195 G C rs1871416 SLC26A10 Synonymous SNV L492L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 6.771 174947 chr12 58019197 58019197 C T rs1871415 SLC26A10 Nonsynonymous SNV A493V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.1 174948 chr12 58176589 58176589 C T rs35957924 TSFM Nonsynonymous SNV S2L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 8.164 174949 chr19 10503947 10503947 C T rs140381502 CDC37 Synonymous SNV E299E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.48 174950 chr1 192780677 192780677 A G rs112707798 RGS2 Nonsynonymous SNV Q196R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21 174951 chr1 207245684 207245684 C T rs141454250 PFKFB2 Nonsynonymous SNV R496C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 174952 chr1 2160431 2160431 C T rs765605691 SKI Synonymous SNV L76L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.948 174953 chr1 197390490 197390490 C A CRB1 Nonsynonymous SNV A399D 0 0.005 0 0 0 2 0 0 0 0 0 0 13.76 174954 chr19 50357725 50357725 C T rs545720828 PTOV1 Synonymous SNV L78L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.52 174955 chr19 50360995 50360995 A G rs754221729 PTOV1 Nonsynonymous SNV N254D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.1 174956 chr19 50360996 50360996 A T rs757769457 PTOV1 Nonsynonymous SNV N254I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.4 174957 chr19 12429913 12429913 T G rs45564645 ZNF563 Nonsynonymous SNV Y309S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.5 174958 chr19 14048821 14048821 T C PODNL1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 174959 chr1 201182151 201182151 A C rs200573541 IGFN1 Synonymous SNV S2710S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.121 174960 chr1 201786367 201786367 G A NAV1 Nonsynonymous SNV R1437K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.48 174961 chr19 15063778 15063778 C T rs200085107 SLC1A6 Synonymous SNV T487T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.65 174962 chr1 171509881 171509881 A G rs367547725 PRRC2C Synonymous SNV T1090T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 174963 chr1 201981241 201981241 T C ELF3 Nonsynonymous SNV L107P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.8 174964 chr12 97137205 97137205 C A rs745519356 CFAP54 Nonsynonymous SNV S2415R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 174965 chr12 100041975 100041975 C T rs192871611 FAM71C Nonsynonymous SNV P8L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 174966 chr1 113098500 113098500 T G rs376972235 ST7L Synonymous SNV T279T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.78 174967 chr1 113231565 113231565 C A rs535795554 MOV10 Nonsynonymous SNV T49N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.87 174968 chr1 1133140 1133140 G A rs750648601 TTLL10 Synonymous SNV S645S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.944 174969 chr17 61517558 61517558 C T CYB561 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 174970 chr19 16145421 16145421 T A LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 4.027 174971 chr1 22817098 22817098 G A rs148641174 ZBTB40 Synonymous SNV V219V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 7.611 174972 chr19 17163756 17163756 C T rs771781763 HAUS8 Nonsynonymous SNV V269M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 174973 chr19 17212665 17212665 C T rs751563896 MYO9B Synonymous SNV D46D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.751 174974 chr19 17392966 17392966 G A rs576818656 ANKLE1 Nonsynonymous SNV G44S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 174975 chr1 20944989 20944989 G A rs139735135 CDA Synonymous SNV T123T 0 0.008 0 1 0 3 0.003 0 0 0 0 0 11.66 174976 chr1 118430388 118430388 C T rs370788372 GDAP2 Nonsynonymous SNV R321H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 174977 chr19 17671166 17671166 G A rs146187805 COLGALT1 Synonymous SNV P127P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 174978 chr1 21186966 21186966 G A rs141109227 EIF4G3 Synonymous SNV I996I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 14.47 174979 chr1 1219362 1219362 C G SCNN1D Nonsynonymous SNV A119G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.39 174980 chr1 12337240 12337240 G T VPS13D Nonsynonymous SNV G1199C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.5 174981 chr12 111991979 111991979 T C rs760335096 ATXN2 Nonsynonymous SNV I6V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 174982 chr12 112280477 112280477 G T rs761474545 MAPKAPK5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.653 174983 chr12 113553847 113553847 C T RASAL1 Synonymous SNV L247L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.02 174984 chr1 23337505 23337505 G A rs774273202 TEX46 Synonymous SNV H85H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.253 174985 chr1 22155936 22155936 C G HSPG2 Nonsynonymous SNV D3979H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 31 174986 chr1 22157980 22157980 C A HSPG2 Nonsynonymous SNV A3811S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 21.8 174987 chr12 120750722 120750722 G A SIRT4 Stop gain W276X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 174988 chr19 19869183 19869183 G A rs144954244 LINC00663 0 0 0.003 0 0 0 0 1 0 0 0 0 5.026 174989 chr1 22158028 22158028 C T rs775485358 HSPG2 Nonsynonymous SNV E3795K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 32 174990 chr12 121437114 121437114 G T rs55834942 HNF1A Synonymous SNV T515T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 174991 chr12 124358125 124358127 CTC - DNAH10 S2486del 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 174992 chr1 2435798 2435798 C T rs199730125 PLCH2 Nonsynonymous SNV R1133W 0 0.003 0 0 0 1 0 0 0 0 0 0 8.758 174993 chr1 226822473 226822473 C T rs148881608 ITPKB Nonsynonymous SNV V914I 0 0.005 0 2 0 2 0.005 0 0 0 0 0 22.6 174994 chr19 34791839 34791839 C T rs146643118 KIAA0355 Nonsynonymous SNV T154M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 174995 chr17 74275489 74275489 T C QRICH2 Nonsynonymous SNV H1424R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 174996 chr12 125834303 125834303 T C rs201744920 TMEM132B Synonymous SNV L125L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.488 174997 chr19 35590138 35590138 G A rs113071891 HPN-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 1.662 174998 chr12 132624701 132624701 C T rs150150422 DDX51 Nonsynonymous SNV G573S 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 24.2 174999 chr1 204086778 204086778 C T rs376348030 SOX13 Nonsynonymous SNV P240S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 175000 chr12 133225625 133225625 G A POLE Synonymous SNV L1347L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.464 175001 chr19 36243384 36243384 A G LIN37 Nonsynonymous SNV K40E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 175002 chr19 36370111 36370111 G A rs148071646 APLP1 Nonsynonymous SNV V617M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 175003 chr1 228559995 228559995 G A rs775433761 OBSCN Synonymous SNV A7172A 0 0.005 0 0 0 2 0 0 0 0 0 0 7.772 175004 chr1 22973804 22973804 C T C1QC Nonsynonymous SNV P89L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.5 175005 chr1 2327253 2327253 A C RER1 Synonymous SNV G8G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.848 175006 chr19 58090053 58090053 C G ZNF416 Nonsynonymous SNV R7T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.686 175007 chr1 234534241 234534241 A G rs138599154 TARBP1 Nonsynonymous SNV I1377T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.11 175008 chr1 234603262 234603262 G A rs778901436 TARBP1 Nonsynonymous SNV P412S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.13 175009 chr13 33249986 33249986 T C rs45580544 PDS5B Synonymous SNV N284N 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 5.325 175010 chr13 33628209 33628209 G A rs778901164 KL Synonymous SNV L375L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.432 175011 chr13 43918739 43918739 T C rs375255742 ENOX1 Nonsynonymous SNV H359R 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 14.15 175012 chr1 215960058 215960058 G A rs372015149 USH2A Synonymous SNV A3447A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.71 175013 chr19 7605117 7605117 G A rs1018645754 PNPLA6 Nonsynonymous SNV V213I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.33 175014 chr1 36565837 36565837 C T rs115156902 COL8A2 Nonsynonymous SNV G3R 0.008 0 0.007 0 9 0 0 2 0 0 0 0 15.17 175015 chr19 7712110 7712110 G A rs369399945 STXBP2 Synonymous SNV T502T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.054 175016 chr1 165218846 165218846 C T rs202040732 LMX1A Nonsynonymous SNV E99K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 175017 chr1 33236384 33236384 G A rs891094812 KIAA1522 Nonsynonymous SNV R476Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.79 175018 chr1 39878485 39878485 G A rs201118698 KIAA0754 Nonsynonymous SNV A850T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.179 175019 chr19 8436216 8436216 C T rs139295817 ANGPTL4 Synonymous SNV N245N 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 11.4 175020 chr1 35227182 35227182 C T rs374919180 GJB4 Synonymous SNV H109H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.984 175021 chr19 899482 899482 G C rs758157710 R3HDM4 Nonsynonymous SNV L221V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.2 175022 chr13 86370586 86370586 A G rs200148414 SLITRK6 Nonsynonymous SNV S20P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.221 175023 chr18 22040855 22040859 CTTAA - rs765452459 HRH4 N56Gfs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 175024 chr13 98634805 98634805 C G IPO5 Nonsynonymous SNV Q47E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 175025 chr1 248366376 248366376 A T rs369727773 OR2M3 Nonsynonymous SNV R3W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.272 175026 chr1 248366385 248366385 T C rs762145120 OR2M3 Nonsynonymous SNV S6P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.809 175027 chr1 248366386 248366386 C A rs769867138 OR2M3 Stop gain S6X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.3 175028 chr1 248366399 248366399 C T rs202111114 OR2M3 Synonymous SNV S10S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.605 175029 chr1 248366414 248366414 G T rs780648254 OR2M3 Synonymous SNV L15L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.297 175030 chr1 248366432 248366432 C - rs750872758 OR2M3 T23Pfs*108 0.002 0.005 0 0 2 2 0 0 0 0 0 0 175031 chr13 103266496 103266496 A G rs760464628 TPP2 Nonsynonymous SNV I114V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.211 175032 chr19 9027563 9027563 C T rs139868374 MUC16 Nonsynonymous SNV R12194Q 0.005 0.008 0 0 6 3 0 0 0 0 0 0 23.4 175033 chr19 45322671 45322671 C T rs117012738 BCAM Synonymous SNV A514A 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 20.8 175034 chr19 45375209 45375209 G A rs368183799 NECTIN2 Nonsynonymous SNV R193Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 175035 chr13 103396314 103396314 C A CCDC168 Nonsynonymous SNV G2245C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.345 175036 chr18 32954117 32954117 C T rs376934742 ZNF396 Nonsynonymous SNV S47N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.31 175037 chr19 45731020 45731020 G A rs368887693 EXOC3L2 Nonsynonymous SNV R102C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 175038 chr1 42049142 42049142 G A rs747932132 HIVEP3 Synonymous SNV L443L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.698 175039 chr19 45899825 45899825 G A rs34843313 PPP1R13L Synonymous SNV F230F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.901 175040 chr19 46198825 46198825 G A rs80339864 QPCTL Nonsynonymous SNV R161H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 175041 chr19 46267354 46267354 C T rs116007597 BHMG1 Nonsynonymous SNV P632L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 175042 chr19 46281828 46281828 C T rs34510782 DMPK Synonymous SNV P79P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 17.93 175043 chr19 46281876 46281876 C T rs34798952 DMPK Synonymous SNV V63V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.82 175044 chr19 46289077 46289077 A G rs61744161 DMWD Synonymous SNV S559S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 175045 chr19 46299178 46299178 C T rs61730714 RSPH6A Synonymous SNV E701E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 10.34 175046 chr1 43892798 43892798 G C SZT2 Nonsynonymous SNV R1070S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 175047 chr1 43892799 43892799 - A SZT2 Frameshift insertion L1071Hfs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 175048 chr1 43892800 43892800 T C SZT2 Nonsynonymous SNV L1071P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 175049 chr1 43892802 43892802 - CA SZT2 Frameshift insertion V1072Afs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 175050 chr1 31842320 31842320 T A rs2228194 FABP3 Nonsynonymous SNV K64I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Likely benign 25.3 175051 chr18 51715351 51715351 T A MBD2 Nonsynonymous SNV I245F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 175052 chr18 55398906 55398906 T G rs146599962 ATP8B1 Nonsynonymous SNV N45T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.45 175053 chr18 56203629 56203629 C T rs144733035 ALPK2 Nonsynonymous SNV G1264S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 175054 chr1 47882822 47882822 - GCCCGCT FOXE3 Frameshift insertion E284Afs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 175055 chr19 49564995 49564995 G A NTF4 Nonsynonymous SNV P87L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 175056 chr1 3413866 3413866 C A MEGF6 Nonsynonymous SNV A1138S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.82 175057 chr1 49202110 49202110 G A rs372359785 BEND5 Synonymous SNV S134S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.63 175058 chr1 19181438 19181438 G C rs756517501 TAS1R2 Nonsynonymous SNV R176G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.98 175059 chr1 10713873 10713873 G A CASZ1 Synonymous SNV S747S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.458 175060 chr18 59713161 59713161 G A rs756612484 PIGN Synonymous SNV L908L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.56 175061 chr1 65107563 65107563 A G rs145156098 CACHD1 Nonsynonymous SNV E60G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.5 175062 chr1 40881993 40881993 C T rs202167503 SMAP2 Nonsynonymous SNV T246M 0 0.005 0 0 0 2 0 0 0 0 0 0 26.4 175063 chr1 6166829 6166829 C T rs147871474 CHD5 Synonymous SNV Q1863Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 6.593 175064 chr1 42048869 42048869 G C rs150413814 HIVEP3 Nonsynonymous SNV P534A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.89 175065 chr1 42922633 42922633 A T rs199807362 PPCS Nonsynonymous SNV R133W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 175066 chr19 52090015 52090015 G A rs752255640 ZNF175 Nonsynonymous SNV R144H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.322 175067 chr1 156035797 156035797 G A rs539790219 RAB25 Nonsynonymous SNV V47I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.7 175068 chr1 201926692 201926692 A G TIMM17A Synonymous SNV P60P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.987 175069 chr19 52196332 52196332 G T rs888375873 SPACA6P-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.247 175070 chr1 247769412 247769412 C A rs147517990 OR2G3 Nonsynonymous SNV D175E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.5 175071 chr14 24659562 24659562 A T rs192689400 TM9SF1 Nonsynonymous SNV L484Q 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.538 175072 chr1 47685583 47685583 C T rs777427139 TAL1 Nonsynonymous SNV G110S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.172 175073 chr14 33408543 33408543 C A NPAS3 Nonsynonymous SNV S7R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 175074 chr1 248403015 248403015 C A rs41303133 OR2M4 Nonsynonymous SNV P262Q 0.004 0.008 0 0 5 3 0 0 0 0 0 0 26 175075 chr1 53667997 53667997 A C rs150888506 CPT2 Nonsynonymous SNV K79T 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 12.65 175076 chr19 54848121 54848121 C T rs141881690 LILRA4 Nonsynonymous SNV V416M 0 0.008 0.01 0 0 3 0 3 0 0 0 0 9.682 175077 chr19 54848125 54848125 C T rs138326444 LILRA4 Synonymous SNV E414E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.398 175078 chr1 90472915 90472915 A G rs775662477 ZNF326 Nonsynonymous SNV Y74C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 175079 chr1 13936920 13936920 C A rs145319958 PDPN Synonymous SNV I38I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.03 175080 chr1 21024877 21024877 G A rs369680598 KIF17 Nonsynonymous SNV R410W 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 35 175081 chr19 55543660 55543660 G A rs199588110 GP6 Nonsynonymous SNV R58C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Pathogenic 33 175082 chr1 899490 899490 G C KLHL17 Nonsynonymous SNV G483A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 175083 chr1 27683140 27683140 G C rs558857356 MAP3K6 Synonymous SNV P1147P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.768 175084 chr14 58701187 58701187 A G rs141472047 ACTR10 Nonsynonymous SNV N391S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.74 175085 chr1 29557276 29557276 T C rs768742328 MECR Star tloss Y48C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 175086 chr1 92430211 92430211 A G rs749945857 BRDT Star tloss M74V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 175087 chr20 11871455 11871455 T G BTBD3 Nonsynonymous SNV S14A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 175088 chr17 78039310 78039310 C T rs200154414 CCDC40 Synonymous SNV S489S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.29 175089 chr1 33360977 33360977 C T rs201782944 TMEM54 Nonsynonymous SNV V155I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.08 175090 chr17 78155253 78155253 C T rs559363898 CARD14 Nonsynonymous SNV R6C 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Uncertain significance 32 175091 chr1 34006182 34006182 C T rs149335630 CSMD2 Nonsynonymous SNV A3048T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.1 175092 chr17 78175551 78175551 C T rs148265488 CARD14 Synonymous SNV Y620Y 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.621 175093 chr1 74670359 74670359 C T rs148933608 FPGT Nonsynonymous SNV P223S 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 11.56 175094 chr19 57642406 57642406 G A rs746322635 USP29 Nonsynonymous SNV G788D 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 175095 chr1 35852774 35852774 C T rs749044700 ZMYM4 Synonymous SNV L345L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.246 175096 chr20 10622262 10622262 A G JAG1 Nonsynonymous SNV L921P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.5 175097 chr19 580397 580397 G A rs140722203 BSG Synonymous SNV Q17Q 0 0.005 0.003 0 0 2 0 1 0 1 0 0 0.408 175098 chr14 71197453 71197453 T C MAP3K9 Nonsynonymous SNV K720E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 175099 chr19 15565683 15565683 G A rs778557931 RASAL3 Synonymous SNV G581G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.092 175100 chr19 16472712 16472712 C T EPS15L1 Nonsynonymous SNV G822S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 16.95 175101 chr14 75416194 75416194 C T rs372000874 PGF Nonsynonymous SNV V61I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.175 175102 chr19 6741291 6741291 A G rs149434643 TRIP10 Nonsynonymous SNV K66E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.31 175103 chr1 43850140 43850140 G A rs115972666 MED8 Nonsynonymous SNV A296V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 175104 chr1 185278236 185278236 G T IVNS1ABP Synonymous SNV I60I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 175105 chr20 2637283 2637283 A - SNORD56 0.001 0.003 0 0 1 1 0 0 0 0 0 0 175106 chr14 88651919 88651919 C T rs61747260 KCNK10 Nonsynonymous SNV R526Q 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 11.43 175107 chr19 8431204 8431204 G A rs368451562 ANGPTL4 0 0 0.007 0 0 0 0 2 0 0 0 0 25.4 175108 chr19 8553579 8553579 C T rs143355290 HNRNPM Synonymous SNV H543H 0 0 0.007 0 0 0 0 2 0 0 0 0 12.75 175109 chr1 231830516 231830516 C T rs561520652 DISC1 Nonsynonymous SNV R338W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 175110 chr20 34022575 34022575 C T rs771940166 GDF5 Nonsynonymous SNV R213Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 25.7 175111 chr1 19549989 19549989 G A rs710871 EMC1 Synonymous SNV I737I 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 14 175112 chr1 19550037 19550037 C T rs710872 EMC1 Synonymous SNV V721V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 11.47 175113 chr14 92470442 92470442 T C TRIP11 Nonsynonymous SNV H1292R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.809 175114 chr1 19566340 19566340 G A rs35951065 EMC1 Nonsynonymous SNV T287M 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 Benign 0.011 175115 chr1 985855 985855 C T rs147990356 AGRN Synonymous SNV G1675G 0.005 0.01 0.007 2 6 4 0.005 2 0 0 0 0 Benign 11.53 175116 chr18 28609476 28609476 T C rs747471270 DSC3 Nonsynonymous SNV Q158R 0.001 0 0 5 1 0 0.013 0 0 0 0 0 23.5 175117 chr19 21132453 21132453 C G rs146063134 ZNF85 Nonsynonymous SNV A314G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.34 175118 chr20 42972080 42972080 G A rs144256166 R3HDML Synonymous SNV P148P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.172 175119 chr19 21544642 21544642 G A rs540867557 ZNF738 Synonymous SNV E26E 0.004 0 0 0 5 0 0 0 0 0 0 0 6.744 175120 chr1 244724344 244724344 T C rs139497144 CATSPERE Synonymous SNV Y317Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 175121 chr20 42164851 42164851 G A rs370359049 L3MBTL1 Synonymous SNV A590A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 175122 chr20 42680088 42680088 G C rs149062403 TOX2 Nonsynonymous SNV S143T 0 0.005 0.007 1 0 2 0.003 2 0 0 1 0 0.428 175123 chr1 109270440 109270440 T C rs371250835 FNDC7 Synonymous SNV C374C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.913 175124 chr14 103420979 103420979 G A rs142167570 CDC42BPB Nonsynonymous SNV A983V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.32 175125 chr20 44050071 44050071 A G rs781604094 PIGT Nonsynonymous SNV Y259C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.9 175126 chr1 109883369 109883369 T C rs1003076215 SORT1 Nonsynonymous SNV Y277C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 175127 chr14 104506614 104506614 C T rs867864375 TDRD9 Synonymous SNV P1266P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.62 175128 chr20 44578181 44578181 A G rs753015159 ZNF335 Synonymous SNV G1232G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.288 175129 chr20 21376819 21376819 C T rs747141397 NKX2-4 Synonymous SNV P265P 0.001 0.01 0 0 1 4 0 0 0 0 0 0 20.4 175130 chr20 45242125 45242125 C T SLC13A3 Synonymous SNV L117L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 175131 chr20 23432487 23432487 G A rs375491260 CST11 Nonsynonymous SNV T100M 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 0.005 175132 chr1 6648838 6648838 C T rs115889581 ZBTB48 Synonymous SNV H568H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.229 175133 chr14 105350748 105350748 G C CEP170B Synonymous SNV P474P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.238 175134 chr14 105350752 105350752 G C CEP170B Nonsynonymous SNV A476P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.055 175135 chr1 118495017 118495017 A G rs371679891 WDR3 Nonsynonymous SNV I668V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 175136 chr1 26664113 26664113 C T rs148914343 CRYBG2 Nonsynonymous SNV R1187Q 0.006 0 0 0 7 0 0 0 0 0 0 0 21.7 175137 chr1 214510059 214510059 A G SMYD2 Nonsynonymous SNV M412V 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 25.9 175138 chr20 32436349 32436349 C T rs760627719 CHMP4B Synonymous SNV I89I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 20 175139 chr18 72009309 72009309 C T rs79415971 C18orf63 Synonymous SNV P218P 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 10.47 175140 chr18 72020983 72020983 A G rs76315481 C18orf63 Nonsynonymous SNV N494S 0 0.008 0.003 4 0 3 0.01 1 0 0 0 0 0.532 175141 chr15 38988829 38988829 A G rs146207678 LINC02694 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.006 175142 chr15 40453430 40453430 G T rs7168394 BUB1B Synonymous SNV A3A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 10.29 175143 chr20 3652820 3652820 G A rs534541783 ADAM33 Nonsynonymous SNV P520S 0 0.005 0 0 0 2 0 0 0 0 0 0 24.8 175144 chr15 40498503 40498503 T C rs1801528 BUB1B Nonsynonymous SNV V618A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 4.057 175145 chr15 40512906 40512906 A G rs35611758 BUB1B Synonymous SNV K1033K 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 7.52 175146 chr1 144930911 144930911 C G PDE4DIP Nonsynonymous SNV K266N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.365 175147 chr15 40707653 40707653 C T rs28940889 IVD Nonsynonymous SNV A281V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Pathogenic 33 175148 chr20 61917031 61917031 A G rs778336088 ARFGAP1 Nonsynonymous SNV D154G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.7 175149 chr20 37356103 37356103 C T SLC32A1 Synonymous SNV F133F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.56 175150 chr20 3783793 3783793 G A rs758180796 CDC25B Synonymous SNV V240V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.36 175151 chr15 41195446 41195446 G A rs4924512 VPS18 Synonymous SNV E943E 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 3.952 175152 chr1 3527733 3527733 G A MEGF6 Nonsynonymous SNV P34S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.369 175153 chr15 43820306 43820306 C T MAP1A Nonsynonymous SNV T2212I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.86 175154 chr1 97771838 97771838 G A rs538703919 DPYD Nonsynonymous SNV R692W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26 175155 chr20 8698413 8698413 C T rs758504402 PLCB1 Synonymous SNV S477S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 17.35 175156 chr15 45567609 45567609 C T rs568292408 SLC28A2 Synonymous SNV G625G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 175157 chr19 10798202 10798202 C T rs370382019 ILF3 Nonsynonymous SNV S747L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 175158 chr1 155057688 155057688 G C EFNA3 Nonsynonymous SNV E84Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 175159 chr1 40961322 40961322 C A ZFP69 Nonsynonymous SNV T392N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 175160 chr19 11356493 11356493 T G DOCK6 Nonsynonymous SNV K290Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 175161 chr21 28338606 28338606 C T rs905662596 ADAMTS5 Synonymous SNV P35P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 175162 chr1 156046699 156046699 G C MEX3A Nonsynonymous SNV S410C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 175163 chr1 1560721 1560721 C T rs375548963 MIB2 Synonymous SNV H309H 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Benign 4.176 175164 chr15 52659258 52659258 G A rs763440706 MYO5A Nonsynonymous SNV R1044C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 175165 chr1 22927916 22927916 C T rs955103893 EPHA8 Synonymous SNV F951F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.05 175166 chr1 203024756 203024756 C T rs182905918 PPFIA4 Nonsynonymous SNV R676C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24 175167 chr20 52583463 52583463 C T BCAS1 Nonsynonymous SNV M430I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25.4 175168 chr21 37617582 37617582 G A rs770249523 DOP1B Nonsynonymous SNV G1102S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 175169 chr21 36042890 36042890 G A rs375245256 CLIC6 Synonymous SNV E401E 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 Likely benign 4.819 175170 chr21 40177974 40177974 C T ETS2 Nonsynonymous SNV A117V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 175171 chr20 2290843 2290843 G A rs143659369 TGM3 Synonymous SNV S67S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 175172 chr20 23473695 23473695 C G CST8 Nonsynonymous SNV S111C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 175173 chr21 42807880 42807880 C T rs200861936 MX1 Synonymous SNV A74A 0 0.005 0 0 0 2 0 0 0 0 0 0 19.35 175174 chr1 159846498 159846498 T C CFAP45 Synonymous SNV R400R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.147 175175 chr1 240601446 240601446 C T rs757667303 FMN2 Nonsynonymous SNV H942Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 175176 chr21 43708041 43708041 G A rs148226451 ABCG1 Nonsynonymous SNV R339Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.68 175177 chr20 31022403 31022425 CACCACTGCCATAGAGAGGCGGC - rs766433101 ASXL1 E574Rfs*15 0 0.003 0 0 0 1 0 0 0 0 0 0 175178 chr1 2430266 2430266 C T rs768544987 PLCH2 Synonymous SNV N784N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.335 175179 chr21 45033794 45033794 C G rs372621055 HSF2BP Nonsynonymous SNV L203F 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 28.1 175180 chr20 31673924 31673924 C T rs377208700 BPIFB4 Stop gain R294X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 36 175181 chr20 32685323 32685323 C T EIF2S2 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.6 175182 chr1 16778412 16778412 C T rs780345892 NECAP2 Nonsynonymous SNV P190L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 175183 chr21 45746067 45746067 C G rs144669255 PFKL Nonsynonymous SNV D705E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.97 175184 chr1 169256555 169256555 T C rs143515962 NME7 Nonsynonymous SNV H247R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 175185 chr1 171506506 171506506 A G rs149871621 PRRC2C Nonsynonymous SNV I798V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.393 175186 chr20 941025 941025 G A rs201162335 RSPO4 Nonsynonymous SNV P165L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.1 175187 chr1 173835917 173835917 C - rs532660612 GAS5 0 0 0.007 0 0 0 0 2 0 0 0 0 175188 chr19 18391372 18391372 G A JUND Nonsynonymous SNV T265M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 175189 chr20 37547140 37547140 G A PPP1R16B Nonsynonymous SNV S470N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 175190 chr21 28212724 28212724 G A rs780781952 ADAMTS1 Synonymous SNV T512T 0 0.005 0 0 0 2 0 0 0 0 0 0 9.848 175191 chr1 17570626 17570626 G A PADI1 Nonsynonymous SNV C627Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 175192 chr21 34400051 34400051 C G OLIG2 Nonsynonymous SNV P294R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 175193 chr1 228335323 228335323 G A rs139053507 GUK1 Nonsynonymous SNV R154Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 175194 chr22 21333954 21333954 G T rs367787216 AIFM3 Nonsynonymous SNV D539Y 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 175195 chr1 8397946 8397946 C T rs374669859 SLC45A1 Synonymous SNV D556D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.75 175196 chr22 21991307 21991307 A G rs150451119 CCDC116 Nonsynonymous SNV D597G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.712 175197 chr1 19545917 19545917 G A rs766882757 EMC1 Synonymous SNV D932D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.43 175198 chr1 28599108 28599108 G C rs767095999 SESN2 Nonsynonymous SNV G185A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.7 175199 chr1 231003943 231003943 C G rs749354516 C1orf198 Nonsynonymous SNV V106L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.7 175200 chr15 92647684 92647684 A C rs72655652 SLCO3A1 Nonsynonymous SNV R307S 0.008 0.005 0.01 2 9 2 0.005 3 0 0 0 0 11.86 175201 chr1 33160886 33160886 G A rs765678917 SYNC Synonymous SNV A271A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13 175202 chr15 94927305 94927305 A C MCTP2 Nonsynonymous SNV H134P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 175203 chr1 9073591 9073591 A T rs79764084 SLC2A7 Nonsynonymous SNV I336N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 24.4 175204 chr1 9074869 9074869 C T rs78914166 SLC2A7 Synonymous SNV A258A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 11.33 175205 chr21 45750464 45750464 C G rs772092677 CFAP410 Nonsynonymous SNV W294S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.222 175206 chr1 914888 914888 C T rs375124931 PERM1 Nonsynonymous SNV V508M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 175207 chr22 30921627 30921627 G A rs565011075 SEC14L6 Synonymous SNV N294N 0 0.005 0 2 0 2 0.005 0 0 0 0 0 9.622 175208 chr1 203018080 203018080 G A rs776719712 PPFIA4 Nonsynonymous SNV R464Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.36 175209 chr1 92944203 92944203 G A rs139144506 GFI1 Synonymous SNV Y344Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.608 175210 chr1 205053033 205053033 T C rs779975278 TMEM81 Nonsynonymous SNV Q139R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 175211 chr20 61512188 61512188 T A rs143370037 DIDO1 Nonsynonymous SNV H1707L 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.566 175212 chr16 711675 711675 C T rs758199997 WDR90 Nonsynonymous SNV P1251L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 175213 chr21 47850066 47850066 C T rs139227909 PCNT Synonymous SNV S2493S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 11.7 175214 chr1 207107784 207107784 A G rs139602213 PIGR Synonymous SNV V562V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.207 175215 chr1 207108056 207108056 C T rs145781175 PIGR Nonsynonymous SNV A472T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.5 175216 chr21 47974576 47974576 C T rs189379480 DIP2A Synonymous SNV G1077G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.34 175217 chr1 41468787 41468787 C T rs150821317 CTPS1 Synonymous SNV G241G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 7.947 175218 chr20 62195530 62195530 C G HELZ2 Nonsynonymous SNV V980L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 175219 chr1 42047535 42047535 G T rs143476188 HIVEP3 Synonymous SNV V978V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.349 175220 chr22 19754277 19754277 G C rs764197422 TBX1 Nonsynonymous SNV V459L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.5 175221 chr1 212560300 212560300 A G rs115730869 PACC1 Synonymous SNV F92F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.651 175222 chr22 20102264 20102264 G A rs375049582 MIR6816 0 0.003 0 0 0 1 0 0 0 0 0 0 2.584 175223 chr22 21213489 21213489 C T rs768945662 SNAP29 Nonsynonymous SNV L31F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.071 175224 chr22 21354664 21354664 G A rs752635334 THAP7 Synonymous SNV V145V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.95 175225 chr1 216017691 216017691 A G rs146445078 USH2A Nonsynonymous SNV V3068A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.26 175226 chr21 26978879 26978879 C T rs116425917 MRPL39 Synonymous SNV R54R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.7 175227 chr1 21902359 21902359 G A rs777986840 ALPL Synonymous SNV A300A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 13.4 175228 chr20 22563056 22563056 G A FOXA2 Nonsynonymous SNV A275V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.813 175229 chr1 220312421 220312421 A C rs189498035 IARS2 Synonymous SNV V749V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.842 175230 chr16 2264164 2264164 C A rs763251124 PGP Synonymous SNV P205P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.8 175231 chr22 41513682 41513682 A G rs148693910 EP300 Nonsynonymous SNV I196V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.065 175232 chr22 43010821 43010821 C T rs61744232 POLDIP3 Nonsynonymous SNV A15T 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 12.24 175233 chr16 2820627 2820627 C T rs543809394 SRRM2 Nonsynonymous SNV R2720W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 175234 chr22 43568439 43568439 T C rs147523583 TTLL12 Nonsynonymous SNV Y488C 0 0.005 0 0 0 2 0 0 0 0 0 0 22.8 175235 chr22 26924217 26924217 G A rs766067242 TPST2 Synonymous SNV N368N 0 0.005 0 0 0 2 0 0 0 0 0 0 9.547 175236 chr1 228480319 228480319 G C rs78661188 OBSCN Nonsynonymous SNV V3567L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 29 175237 chr21 40795400 40795400 T C rs149477071 LCA5L Synonymous SNV S113S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.391 175238 chr1 234509265 234509265 T G COA6 Nonsynonymous SNV F18C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.632 175239 chr1 32151719 32151719 C T COL16A1 Synonymous SNV V619V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.792 175240 chr1 23720482 23720482 G A rs367850819 TCEA3 Nonsynonymous SNV R237C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.2 175241 chr1 23760008 23760008 C T rs143770418 ASAP3 Synonymous SNV A670A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.31 175242 chr20 44180782 44180782 G C rs147108168 WFDC8 Synonymous SNV R203R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.274 175243 chr20 44237319 44237319 G A rs11699641 WFDC9 Synonymous SNV N74N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.595 175244 chr2 107423193 107423193 G C rs34558933 ST6GAL2 Nonsynonymous SNV L511V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 175245 chr16 20809719 20809719 G A ERI2 Nonsynonymous SNV S468F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.001 175246 chr20 48524780 48524780 C T rs750170146 SPATA2 Nonsynonymous SNV R83Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.23 175247 chr22 41573426 41573426 A C rs140187237 EP300 Nonsynonymous SNV Q1878P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 175248 chr20 48744678 48744678 C G TMEM189, TMEM189-UBE2V1 Synonymous SNV L172L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.16 175249 chr22 17581248 17581248 C T rs145378071 IL17RA Nonsynonymous SNV R143C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.7 175250 chr2 11725318 11725318 A G rs116549799 GREB1 Synonymous SNV K311K 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 5.691 175251 chr1 41101668 41101668 C A rs139978373 RIMS3 Synonymous SNV V93V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.27 175252 chr2 120012365 120012365 G A rs762111341 STEAP3 Nonsynonymous SNV V376M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 175253 chr22 19183864 19183864 G A rs377562489 CLTCL1 Synonymous SNV Y1368Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.896 175254 chr1 41979151 41979151 C T rs768586440 HIVEP3 Nonsynonymous SNV R1914Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.859 175255 chr22 19711915 19711915 C T rs1010406568 GP1BB Synonymous SNV R183R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.2 175256 chr16 28507316 28507316 G A APOBR Synonymous SNV E318E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.456 175257 chr2 127806147 127806147 C G BIN1 Nonsynonymous SNV K371N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.19 175258 chr2 11758561 11758561 C T rs376336903 GREB1 Nonsynonymous SNV S1187L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 175259 chr20 5948181 5948181 G A rs28403618 MCM8 Synonymous SNV P325P 0.006 0.003 0.003 0 7 1 0 1 1 0 0 0 12.33 175260 chr1 26146812 26146812 C T rs766412964 LOC646471 0 0 0.007 0 0 0 0 2 0 0 0 0 10.85 175261 chr1 26357977 26357977 G A rs371881161 EXTL1 Nonsynonymous SNV A421T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25 175262 chr1 26497113 26497113 G A rs778970503 ZNF593 Nonsynonymous SNV R104K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 175263 chr1 26517331 26517331 G A rs758705723 CATSPER4 Synonymous SNV A71A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 175264 chr2 136567001 136567001 C T LCT Synonymous SNV K972K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 175265 chr22 46762969 46762969 C T rs150881558 CELSR1 Nonsynonymous SNV R2709Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 175266 chr1 27877820 27877820 G A rs374019808 AHDC1 Synonymous SNV P269P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.101 175267 chr1 29557377 29557377 G A MECR Synonymous SNV A14A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.476 175268 chr2 160104962 160104962 T G rs374149925 WDSUB1 Nonsynonymous SNV K275N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.407 175269 chr16 67218852 67218852 G A rs762522248 EXOC3L1 Nonsynonymous SNV R620C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 175270 chr16 67268280 67268280 T C rs142023201 FHOD1 Nonsynonymous SNV N472S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 175271 chr16 68598165 68598165 C T rs759237139 ZFP90 Nonsynonymous SNV P492L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 175272 chr1 39895535 39895535 G A rs148290248 MACF1 Nonsynonymous SNV G3580D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 175273 chr22 35804443 35804443 C T rs746160563 MCM5 Synonymous SNV F213F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.2 175274 chr1 40775834 40775834 G T rs747133313 COL9A2 Synonymous SNV G247G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.732 175275 chr1 43111858 43111858 C T CCDC30 Nonsynonymous SNV S648F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.034 175276 chr2 10942761 10942761 C A PDIA6 Nonsynonymous SNV V9L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.52 175277 chr1 67838404 67838404 G A IL12RB2 Nonsynonymous SNV C552Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 175278 chr22 40061909 40061909 C T rs201624682 CACNA1I Synonymous SNV H1299H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.88 175279 chr1 75175797 75175797 G A rs57413593 CRYZ Synonymous SNV Y68Y 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 0.85 175280 chr22 40719059 40719059 C T rs368172546 TNRC6B Synonymous SNV L1662L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.64 175281 chr1 75217990 75217990 A T rs61741065 TYW3 Synonymous SNV T114T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.122 175282 chr22 41513253 41513253 T C rs147566983 EP300 Synonymous SNV L53L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.607 175283 chr16 75513469 75513469 T G rs61740901 CHST6 Synonymous SNV A86A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.005 175284 chr1 46659575 46659575 T C rs754653320 POMGNT1 Nonsynonymous SNV N279S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 175285 chr22 42089783 42089783 A G rs370593937 C22orf46 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.001 175286 chr2 11765398 11765398 C A rs200438725 GREB1 Synonymous SNV A1422A 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 14.49 175287 chr20 33867532 33867532 C T EIF6 Nonsynonymous SNV G170S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 175288 chr2 170804203 170804203 C T rs905444237 UBR3 Nonsynonymous SNV S1021F 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 24.6 175289 chr1 84876555 84876555 G A rs199881802 DNASE2B Stop gain W140X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 39 175290 chr1 113058804 113058804 G T WNT2B Nonsynonymous SNV G57V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 175291 chr1 113058805 113058805 G A rs768452804 WNT2B Synonymous SNV G57G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.308 175292 chr2 182543231 182543231 C T rs375774931 NEUROD1 Synonymous SNV A119A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 16.86 175293 chr1 113058806 113058806 G A WNT2B Nonsynonymous SNV V58I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 175294 chr1 113058809 113058809 - C WNT2B Frameshift insertion V59Afs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 175295 chr1 113058811 113058811 C A WNT2B Synonymous SNV V59V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 175296 chr1 53236930 53236930 A G rs753157820 ZYG11B Synonymous SNV S145S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.497 175297 chr21 43411636 43411636 C T ZBTB21 Nonsynonymous SNV D857N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 175298 chr2 175939379 175939379 G A ATF2 Synonymous SNV I434I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.043 175299 chr1 53681725 53681725 C T rs113278028 CZIB Nonsynonymous SNV G68R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 175300 chr2 1271281 1271281 G A rs201124856 SNTG2 Nonsynonymous SNV E408K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 175301 chr1 114523753 114523753 G T rs139529930 OLFML3 Nonsynonymous SNV A134S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 17.06 175302 chr2 128392708 128392708 G A rs377168438 MYO7B Synonymous SNV T1883T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.03 175303 chr20 39802813 39802813 G A rs201677341 PLCG1 Nonsynonymous SNV R1232Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 175304 chr1 57373778 57373778 G A rs17114555 C8A Nonsynonymous SNV D458N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 34 175305 chr1 120056648 120056648 G A rs143657140 HSD3B1 Nonsynonymous SNV A168T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.49 175306 chr2 196728987 196728987 A G rs182958932 DNAH7 Synonymous SNV H2464H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.409 175307 chr2 152492796 152492796 C T rs373587647 NEB Nonsynonymous SNV R3016Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 26.1 175308 chr2 185800543 185800543 A C ZNF804A Synonymous SNV T140T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 175309 chr22 50725562 50725562 G A PLXNB2 Synonymous SNV I580I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.462 175310 chr1 1398032 1398032 C G rs181068440 ATAD3C Nonsynonymous SNV R345G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 175311 chr2 186672883 186672883 A G FSIP2 Nonsynonymous SNV T6284A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.17 175312 chr22 50956063 50956063 C T NCAPH2 Synonymous SNV S108S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.09 175313 chr21 47966843 47966843 A G rs201130788 DIP2A Nonsynonymous SNV I761V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.342 175314 chr22 50966041 50966041 C T rs121913039 TYMP Nonsynonymous SNV V208M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 31 175315 chr2 190430130 190430130 G A rs775891910 SLC40A1 Nonsynonymous SNV A237V 0.002 0 0 0 2 0 0 0 0 0 0 0 23 175316 chr16 89809304 89809304 G A rs187074190 FANCA Synonymous SNV D1223D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 1.228 175317 chr2 201337656 201337656 T G SPATS2L Nonsynonymous SNV S319A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.002 175318 chr20 57828134 57828134 A G rs73915991 ZNF831 Nonsynonymous SNV T1377A 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 0.003 175319 chr2 112988508 112988512 TTCTT - rs540736599 ZC3H8 K287Vfs*3 0.002 0.005 0 0 2 2 0 0 0 0 0 0 175320 chr17 2604764 2604764 C T rs370393055 CLUH Synonymous SNV P265P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.69 175321 chr2 218937170 218937170 G A rs536379062 RUFY4 Nonsynonymous SNV R76Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.03 175322 chr19 58290244 58290244 T C ZNF586 Nonsynonymous SNV F97L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.713 175323 chr2 219206859 219206859 C T rs777714592 PNKD Nonsynonymous SNV S234F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.4 175324 chr2 172644162 172644162 A G rs760496959 SLC25A12 Nonsynonymous SNV F585S 0 0.008 0 0 0 3 0 0 0 0 0 0 32 175325 chr17 3493236 3493236 C T rs764482452 TRPV1 Synonymous SNV T303T 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.3 175326 chr20 61981911 61981911 C T rs199741056 CHRNA4 Synonymous SNV S284S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Likely benign 12.11 175327 chr2 179363945 179363945 G A rs774544151 PLEKHA3 Nonsynonymous SNV R208H 0 0.005 0 0 0 2 0 0 0 0 0 0 31 175328 chr17 4060345 4060345 C T rs201058503 CYB5D2 Nonsynonymous SNV P143L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 17.12 175329 chr19 6590859 6590859 G A CD70 Nonsynonymous SNV S52L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.35 175330 chr2 128346033 128346033 A G rs370380006 MYO7B Nonsynonymous SNV N586S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.08 175331 chr2 179600640 179600640 C T rs373378672 TTN Nonsynonymous SNV D3601N 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.691 175332 chr2 220493127 220493127 G T SLC4A3 Nonsynonymous SNV V18F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 175333 chr19 7626428 7626428 G A rs145178162 PNPLA6 Nonsynonymous SNV G1360S 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign/Likely benign 8.14 175334 chr2 183699648 183699648 A G rs41270213 FRZB Synonymous SNV D302D 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 3.227 175335 chr17 7139747 7139747 C T rs199998155 PHF23 Nonsynonymous SNV V100M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.7 175336 chr2 189858770 189858770 C T rs757192342 COL3A1 Nonsynonymous SNV P386S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 22.8 175337 chr2 227731962 227731962 T C rs139662037 RHBDD1 Nonsynonymous SNV I165T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 175338 chr2 192863027 192863029 TAG - TMEFF2 T235del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 175339 chr20 33065605 33065605 G A ITCH Nonsynonymous SNV R423Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 175340 chr2 238449598 238449598 G A rs200350268 MLPH Nonsynonymous SNV E339K 0 0.003 0 0 0 1 0 0 0 0 0 0 27 175341 chr22 40814431 40814431 C T rs201944805 MRTFA Nonsynonymous SNV V671M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 175342 chr22 40814486 40814486 C G rs149398283 MRTFA Synonymous SNV G652G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.78 175343 chr2 202245415 202245415 G A rs139733576 TRAK2 Stop gain Q866X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 175344 chr22 41527459 41527459 C G EP300 Synonymous SNV A450A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 175345 chr2 233321733 233321733 C T rs142255168 ALPI Nonsynonymous SNV T142M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 175346 chr2 203051664 203051664 A T KIAA2012 Nonsynonymous SNV D740V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 175347 chr2 204000596 204000596 A T rs900423516 NBEAL1 Nonsynonymous SNV D1308V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.88 175348 chr20 39984655 39984655 G A LPIN3 Nonsynonymous SNV R596H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 175349 chr20 39987386 39987386 C T rs374973167 LPIN3 Synonymous SNV V813V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 175350 chr21 45550587 45550587 T G rs141972655 LOC102724159, PWP2 Synonymous SNV S898S 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 1.534 175351 chr2 236792051 236792051 C T AGAP1 Synonymous SNV T371T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 175352 chr2 21233738 21233738 G T APOB Nonsynonymous SNV T2001N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.3 175353 chr20 47989962 47989962 G A rs775588653 KCNB1 Nonsynonymous SNV T712M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.691 175354 chr20 58461762 58461762 C A rs890211237 SYCP2 Nonsynonymous SNV S831I 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 24.7 175355 chr22 50181359 50181359 G A BRD1 Synonymous SNV L841L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 175356 chr22 50297651 50297651 C T rs781494329 ALG12 Nonsynonymous SNV M434I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 175357 chr20 60868966 60868966 C T rs115390538 OSBPL2 Nonsynonymous SNV R356W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 6.782 175358 chr22 50617594 50617594 - C rs748018945 PANX2 Frameshift insertion R643Pfs*121 0.001 0 0 0 1 0 0 0 0 0 0 0 175359 chr2 27587682 27587682 C T rs747532557 EIF2B4 Synonymous SNV L446L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.46 175360 chr2 27887217 27887217 T C rs747540922 SLC4A1AP Nonsynonymous SNV C200R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.69 175361 chr20 60942274 60942274 C A rs572849050 LAMA5 Nonsynonymous SNV A10S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.7 175362 chr20 57768802 57768802 G T rs142975883 ZNF831 Nonsynonymous SNV A910S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 175363 chr22 50944774 50944774 T G LMF2 Nonsynonymous SNV M154L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 175364 chr17 27438862 27438862 G C rs748479097 MYO18A Nonsynonymous SNV T873R 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 14.75 175365 chr20 60808401 60808401 C T rs141149366 LOC105369209 0 0 0.024 0 0 0 0 7 0 0 0 0 0.374 175366 chr20 62187743 62187743 C T rs138076587 FNDC11 Nonsynonymous SNV R243C 0.006 0.003 0.003 5 7 1 0.013 1 0 0 0 0 31 175367 chr20 60904862 60904862 G T LAMA5 Nonsynonymous SNV R1364S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 175368 chr1 1854861 1854861 G A rs150000110 CFAP74 Synonymous SNV D1489D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.731 175369 chr2 105472775 105472775 - CAC rs762283249 POU3F3 H277_A278insH 0.001 0.003 0 0 1 1 0 0 0 0 0 0 175370 chr17 34852151 34852151 G A rs756438324 MYO19 Synonymous SNV L753L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.65 175371 chr2 228497782 228497782 G A rs775406090 C2orf83 Nonsynonymous SNV T7M 0 0.005 0 0 0 2 0 0 0 0 0 0 7.465 175372 chr20 62574016 62574016 C T rs191451021 MIR647 0 0 0.01 0 0 0 0 3 0 0 0 0 9.048 175373 chr20 62737690 62737690 G A rs149388219 NPBWR2 Synonymous SNV V165V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.383 175374 chr17 37618966 37618966 C T rs752379738 CDK12 Synonymous SNV D214D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.212 175375 chr21 31045482 31045482 G A rs144855573 GRIK1 Synonymous SNV L41L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 14.12 175376 chr21 30339206 30339206 T - rs560176639 LTN1 N536Mfs*33 0 0 0.007 0 0 0 0 2 0 0 0 0 175377 chr2 62115572 62115572 T A rs749405108 CCT4 Nonsynonymous SNV Y24F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.08 175378 chr21 40572282 40572282 G C rs139797089 BRWD1 Nonsynonymous SNV S1539C 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 27 175379 chr21 40695070 40695070 A G rs534338365 BRWD1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.943 175380 chr21 40777836 40777836 G A rs200492515 LCA5L Nonsynonymous SNV T662I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 175381 chr2 56145110 56145110 G T rs12292 EFEMP1 Synonymous SNV L69L 0.003 0 0.007 2 3 0 0.005 2 0 0 1 1 Benign 10.66 175382 chr21 41710113 41710113 C T rs370012852 DSCAM Synonymous SNV K566K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.19 175383 chr2 5833234 5833234 C A rs755512766 SOX11 Nonsynonymous SNV D127E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 175384 chr2 5833288 5833288 C A rs776245912 SOX11 Synonymous SNV G145G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 175385 chr21 41450804 41450804 G A rs199832149 DSCAM Synonymous SNV T1507T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.684 175386 chr2 144934771 144934771 T C GTDC1 Nonsynonymous SNV H5R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.075 175387 chr21 43166968 43166968 G A rs774772567 MIR6814 0 0 0.003 0 0 0 0 1 0 0 0 0 8.502 175388 chr2 74668863 74668863 G C rs373486051 RTKN Nonsynonymous SNV F27L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 175389 chr2 74763556 74763556 G A LOXL3 Nonsynonymous SNV R174W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 175390 chr2 242814679 242814679 C T RTP5 Synonymous SNV T324T 0 0.008 0 0 0 3 0 0 0 0 0 0 9.625 175391 chr21 44592332 44592332 C A rs143992484 CRYAA, CRYAA2 Nonsynonymous SNV A155D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.81 175392 chr21 45651182 45651182 G T rs769671082 ICOSLG, LOC102723996 Stop gain C164X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 175393 chr2 26818107 26818107 C T CIB4 Nonsynonymous SNV A89T 0 0.005 0 0 0 2 0 0 0 0 0 0 33 175394 chr21 46703308 46703308 C T rs749486281 POFUT2 Nonsynonymous SNV E173K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 175395 chr2 27360578 27360578 T C rs142231081 PRR30 Nonsynonymous SNV D207G 0 0.005 0 0 0 2 0 0 0 0 0 0 25 175396 chr21 47421187 47421187 G A rs752639793 COL6A1 Nonsynonymous SNV D615N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 175397 chr2 27499675 27499675 G A rs61754191 DNAJC5G Nonsynonymous SNV G27S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24 175398 chr2 27550100 27550100 C G GTF3C2 Nonsynonymous SNV G821R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 175399 chr17 46134791 46134791 T C NFE2L1 Nonsynonymous SNV L270P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.5 175400 chr3 101039160 101039160 C G rs188916371 IMPG2 Synonymous SNV L19L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.24 175401 chr3 101284426 101284426 C G TRMT10C Nonsynonymous SNV D267E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.74 175402 chr21 47860089 47860089 G A rs775544841 PCNT Nonsynonymous SNV E2926K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.419 175403 chr2 31423399 31423399 G C CAPN14 Nonsynonymous SNV A215G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.33 175404 chr2 31423408 31423408 A C CAPN14 Nonsynonymous SNV I212S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 175405 chr2 32740247 32740247 G C rs901054540 BIRC6 Nonsynonymous SNV D3587H 0 0.005 0 0 0 2 0 0 0 0 0 0 16.64 175406 chr22 19968775 19968775 G C ARVCF Synonymous SNV A285A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.316 175407 chr2 179455531 179455531 A G rs765532912 TTN Synonymous SNV Y11242Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 0.002 175408 chr2 179497284 179497284 A T rs765321685 TTN Nonsynonymous SNV D5418E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.7 175409 chr2 39982449 39982449 T C THUMPD2 Nonsynonymous SNV K121R 0 0.01 0 0 0 4 0 0 0 0 0 0 23.2 175410 chr22 50319135 50319135 G C rs151259822 CRELD2 Synonymous SNV G285G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 175411 chr1 16057046 16057046 G A rs200700186 PLEKHM2 Nonsynonymous SNV R743H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 13.52 175412 chr22 50436567 50436567 C T rs748844182 IL17REL Nonsynonymous SNV R258K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 175413 chr2 48848375 48848375 C T rs138366256 GTF2A1L, STON1-GTF2A1L Synonymous SNV L31L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.37 175414 chr2 181925430 181925430 C T UBE2E3 Synonymous SNV N139N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.71 175415 chr17 59445807 59445807 G A rs765640675 BCAS3 Nonsynonymous SNV D849N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.6 175416 chr1 161069881 161069881 C T rs142627560 KLHDC9 Nonsynonymous SNV P306L 0 0 0 1 0 0 0.003 0 0 0 0 0 29 175417 chr2 242035734 242035734 T C rs147184488 MTERF4 Synonymous SNV Q87Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.045 175418 chr2 242072389 242072389 G A rs61752510 PASK Nonsynonymous SNV R455W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.5 175419 chr17 62075847 62075847 T G rs571377849 PRR29-AS1 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 5.762 175420 chr2 242157184 242157184 A C rs74804606 ANO7 Nonsynonymous SNV I686L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 175421 chr2 186658398 186658398 A C rs979562500 FSIP2 Nonsynonymous SNV N2179H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.02 175422 chr2 242189379 242189379 G A rs35168887 HDLBP Synonymous SNV D430D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.82 175423 chr2 242352768 242352768 A C rs16843643 FARP2 Nonsynonymous SNV K185N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.26 175424 chr2 242402024 242402024 C T rs10208919 FARP2 Synonymous SNV T558T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.35 175425 chr2 242501851 242501851 C G rs74003741 BOK Synonymous SNV T103T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.38 175426 chr1 16273542 16273542 G A rs775496036 ZBTB17 Nonsynonymous SNV P5L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.22 175427 chr2 65298667 65298667 G A rs200546905 CEP68 Nonsynonymous SNV G146E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.8 175428 chr3 121641706 121641706 C T rs752893408 SLC15A2 Nonsynonymous SNV P258S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.71 175429 chr22 51159692 51159692 T G rs995572764 SHANK3 Nonsynonymous SNV V1205G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.5 175430 chr17 67257281 67257281 C G rs78349182 ABCA5 Synonymous SNV L1183L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.15 175431 chr2 189929367 189929367 T C COL5A2 Synonymous SNV E544E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.024 175432 chr2 190530956 190530956 A G rs755759127 ASNSD1 Nonsynonymous SNV N33S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 175433 chr17 70119713 70119713 A C SOX9 Nonsynonymous SNV T239P 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 175434 chr17 70119716 70119716 A C SOX9 Nonsynonymous SNV T240P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 175435 chr22 32275596 32275596 C T rs375636352 DEPDC5 Synonymous SNV A1197A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.53 175436 chr2 197784771 197784771 G A rs114297432 PGAP1 Nonsynonymous SNV T84M 0.001 0 0 0 1 0 0 0 0 0 0 0 30 175437 chr2 201784961 201784961 G A ORC2 Nonsynonymous SNV L484F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 175438 chr22 37425460 37425460 C T rs372580389 MPST Nonsynonymous SNV P267S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 175439 chr1 2339903 2339903 C T rs766103610 PEX10 Synonymous SNV T196T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.43 175440 chr17 72846007 72846007 G A rs74912643 GRIN2C Synonymous SNV I519I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.78 175441 chr17 72954787 72954787 G A rs147101638 HID1 Synonymous SNV N407N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.357 175442 chr2 202970489 202970489 C G rs371440841 KIAA2012 Nonsynonymous SNV P444A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 175443 chr2 85360841 85360841 G A rs534725385 TCF7L1 Nonsynonymous SNV G12S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 10.13 175444 chr2 203061718 203061718 C T rs187370363 KIAA2012 Nonsynonymous SNV T1128M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.937 175445 chr22 40661916 40661916 C A TNRC6B Nonsynonymous SNV S561Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 175446 chr2 11774338 11774338 C T rs200855068 GREB1 Synonymous SNV Y1691Y 0.006 0.005 0.01 0 7 2 0 3 0 0 0 0 9.382 175447 chr22 40802134 40802134 G A rs142323976 SGSM3 Synonymous SNV V226V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.662 175448 chr22 41075733 41075733 C T rs142851281 MCHR1 Nonsynonymous SNV S95L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 175449 chr2 207615752 207615752 C A rs148716417 MDH1B Nonsynonymous SNV V222F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 19.72 175450 chr2 86444174 86444174 G A rs201177149 REEP1 Synonymous SNV T140T 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 14.58 175451 chr22 41173118 41173118 T C rs137901231 SLC25A17 Nonsynonymous SNV I134V 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 2.533 175452 chr2 88407979 88407979 G C SMYD1 Nonsynonymous SNV G399A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.708 175453 chr2 39088959 39088959 C T rs1046657291 DHX57 Nonsynonymous SNV R96H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.85 175454 chr3 133099849 133099849 C T rs147035119 TMEM108 Nonsynonymous SNV R432C 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 34 175455 chr22 43204851 43204851 T C rs151228191 ARFGAP3 Synonymous SNV T370T 0 0 0.007 0 0 0 0 2 0 0 0 0 5.105 175456 chr2 9621450 9621450 T C IAH1 Nonsynonymous SNV Y107H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 175457 chr22 43267449 43267449 C T rs748881853 PACSIN2 Nonsynonymous SNV E418K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 175458 chr2 43968108 43968108 C T rs200249383 PLEKHH2 Synonymous SNV C1049C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.58 175459 chr17 74381562 74381562 C A rs201987985 SPHK1 Nonsynonymous SNV A32D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.942 175460 chr2 210680001 210680001 C T rs200884661 UNC80 Synonymous SNV N407N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.17 175461 chr3 127325028 127325028 C A MCM2 Nonsynonymous SNV F247L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 175462 chr2 48707153 48707153 A G rs35301844 PPP1R21 Nonsynonymous SNV K439R 0.007 0.008 0 1 8 3 0.003 0 0 0 0 0 23.8 175463 chr2 58350340 58350340 T C rs17049354 VRK2 Synonymous SNV F98F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.324 175464 chr3 108836867 108836867 G C MORC1 Nonsynonymous SNV R14G 0 0.01 0 0 0 4 0 0 0 0 0 0 12.71 175465 chr3 132218016 132218016 T A DNAJC13 Synonymous SNV T1401T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.61 175466 chr2 68521031 68521031 C T rs768071705 CNRIP1 Nonsynonymous SNV R124H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 175467 chr3 133305478 133305478 A G CDV3 Nonsynonymous SNV R180G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 175468 chr22 50898008 50898008 G A rs374190021 SBF1 Synonymous SNV P1194P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 14.54 175469 chr22 50906108 50906108 G A rs6010103 SBF1 Synonymous SNV R98R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 4.383 175470 chr17 78110098 78110098 C A EIF4A3 Synonymous SNV G340G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 175471 chr22 51012775 51012775 C T rs2269383 CPT1B Nonsynonymous SNV G286D 0.002 0.01 0.014 1 2 4 0.003 4 0 0 0 0 32 175472 chr22 51017476 51017476 A G rs1056964 CHKB-CPT1B 0 0 0.044 0 0 0 0 13 0 0 0 0 Likely benign 3.835 175473 chr17 78388966 78388966 C T rs1015701068 RNF213-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.93 175474 chr17 79674249 79674249 C T rs144790349 MRPL12 Synonymous SNV G192G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 19.2 175475 chr3 121295729 121295729 C T rs140537962 ARGFX Stop gain R68X 0.004 0.016 0.01 2 5 6 0.005 3 0 0 0 0 35 175476 chr2 85361458 85361458 A G TCF7L1 Nonsynonymous SNV Q109R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.7 175477 chr2 163230011 163230011 T C rs79262587 KCNH7 Nonsynonymous SNV K1098R 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 15.31 175478 chr2 113513684 113513684 A G CKAP2L Synonymous SNV L257L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.756 175479 chr2 166850777 166850777 A G rs145296488 SCN1A Synonymous SNV N1577N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.072 175480 chr3 122439109 122439109 C T rs774132182 PARP14 Synonymous SNV I1605I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.46 175481 chr3 122629023 122629023 G C rs774257191 SEMA5B Synonymous SNV A1047A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.931 175482 chr2 88405868 88405868 C T rs780454112 SMYD1 Synonymous SNV L323L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.6 175483 chr1 201840351 201840351 G T IPO9 Synonymous SNV L824L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.49 175484 chr2 95943726 95943726 G A rs140756227 PROM2 Nonsynonymous SNV A342T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.68 175485 chr2 124771871 124771871 A G rs953835352 LOC107985820 0 0 0.003 0 0 0 0 1 0 0 0 0 3.777 175486 chr3 124632082 124632082 T C rs16836185 MUC13 Nonsynonymous SNV S363G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.147 175487 chr2 238768366 238768366 C T rs2304437 RAMP1 Synonymous SNV L16L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.08 175488 chr2 131673721 131673721 A G rs778371119 ARHGEF4 Synonymous SNV G734G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.003 175489 chr2 133174848 133174848 C T rs150018419 GPR39 Nonsynonymous SNV S78L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 175490 chr3 126071556 126071556 G A rs774273199 KLF15 Synonymous SNV T70T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.504 175491 chr18 19153511 19153511 G A rs149363245 ESCO1 Nonsynonymous SNV P432S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.355 175492 chr18 19154632 19154632 T C rs780195800 ESCO1 Nonsynonymous SNV N58S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 175493 chr3 105264086 105264086 C T rs35002721 ALCAM Synonymous SNV N337N 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 13.61 175494 chr3 111805340 111805340 A G rs752248651 C3orf52 Nonsynonymous SNV N29S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 10.22 175495 chr1 39877624 39877624 G C KIAA0754 Nonsynonymous SNV D563H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 175496 chr2 159663617 159663617 C A rs200074841 DAPL1 Nonsynonymous SNV A66E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.81 175497 chr18 32920362 32920362 T C rs537551804 ZNF24 Nonsynonymous SNV T85A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 175498 chr3 113212132 113212132 T C SPICE1 Nonsynonymous SNV D138G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 175499 chr3 113753910 113753910 G A rs191576929 CCDC191 Nonsynonymous SNV A205V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 175500 chr3 13438895 13438895 G A rs756427105 NUP210 Nonsynonymous SNV S133F 0 0.005 0 0 0 2 0 0 0 0 0 0 24.2 175501 chr2 27324724 27324724 G T rs2384571 CGREF1 Synonymous SNV T125T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.29 175502 chr18 46447817 46447817 G C rs3809923 SMAD7 Synonymous SNV G214G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.696 175503 chr18 46448129 46448129 G A rs3809922 SMAD7 Synonymous SNV L110L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.701 175504 chr2 171572863 171572863 C A SP5 Nonsynonymous SNV A49E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 175505 chr2 28821568 28821568 G A rs373478547 PLB1 Synonymous SNV T794T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.056 175506 chr1 216256869 216256869 T G USH2A Nonsynonymous SNV K1743Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.99 175507 chr2 29092750 29092750 T A rs201092249 TRMT61B Nonsynonymous SNV T132S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.007 175508 chr3 14157941 14157941 G C rs138081820 CHCHD4 Nonsynonymous SNV P36A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 175509 chr3 121980622 121980622 C T rs200382161 CASR Nonsynonymous SNV S247F 0 0.008 0.003 0 0 3 0 1 0 0 0 0 Uncertain significance 13.74 175510 chr2 179605964 179605964 T C rs199844346 TTN Nonsynonymous SNV N3636S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.55 175511 chr2 43871923 43871923 T C rs141011381 PLEKHH2 Synonymous SNV L37L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.496 175512 chr2 44184563 44184563 A G rs776449372 LRPPRC Nonsynonymous SNV L537P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 175513 chr18 68297790 68297792 ATA - GTSCR1 0 0 0 1 0 0 0.003 0 0 0 0 0 175514 chr2 190728875 190728875 G C PMS1 Nonsynonymous SNV A579P 0 0 0.003 0 0 0 0 1 0 0 0 0 29 175515 chr2 191859906 191859906 C T rs61756197 STAT1 Synonymous SNV Q275Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.59 175516 chr18 76754714 76754714 C T rs199847316 SALL3 Nonsynonymous SNV A908V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.455 175517 chr3 130435361 130435361 T C PIK3R4 Nonsynonymous SNV D737G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24 175518 chr18 77895325 77895325 T G rs141645766 ADNP2 Nonsynonymous SNV S677A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.003 175519 chr1 228589857 228589857 C T TRIM11 Synonymous SNV K138K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.795 175520 chr2 161052735 161052735 A G rs759857053 ITGB6 Nonsynonymous SNV L71S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.8 175521 chr1 65016278 65016278 G A rs200054556 CACHD1 Nonsynonymous SNV R67Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 175522 chr3 183706368 183706368 G A rs28365004 ABCC5 Synonymous SNV N145N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.61 175523 chr2 61505422 61505422 T C USP34 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 175524 chr3 183888180 183888180 C T rs367640106 DVL3 Synonymous SNV S596S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.49 175525 chr1 231335944 231335944 C T rs370010177 TRIM67 Synonymous SNV T438T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.11 175526 chr3 185209534 185209534 A G rs34871477 TMEM41A Nonsynonymous SNV Y196H 0 0.008 0.003 0 0 3 0 1 0 0 0 0 29.3 175527 chr3 139346563 139346563 - A rs747088811 NMNAT3 Stop gain K2* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 175528 chr2 208442326 208442326 A G rs909285314 CREB1 Synonymous SNV T222T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.614 175529 chr2 209010546 209010546 T C rs774648816 CRYGB Synonymous SNV Q68Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.388 175530 chr19 1242496 1242496 C T rs373064475 ATP5F1D Synonymous SNV P61P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.74 175531 chr3 186937963 186937963 C G MASP1 Nonsynonymous SNV V666L 0 0.008 0 0 0 3 0 0 0 0 0 0 33 175532 chr3 186953727 186953727 C T rs143503196 MASP1 Synonymous SNV T644T 0 0.008 0 0 0 3 0 0 0 0 0 0 Likely benign 11.66 175533 chr19 1611736 1611736 G C rs776765182 TCF3 Nonsynonymous SNV S642R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.84 175534 chr3 42727537 42727537 C T rs780332509 KLHL40 Nonsynonymous SNV L143F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 175535 chr19 2389831 2389831 G C rs142722059 TMPRSS9 Nonsynonymous SNV K16N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 175536 chr19 2823100 2823100 G A rs181024964 ZNF554 Nonsynonymous SNV R39H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.399 175537 chr2 217069110 217069110 G C XRCC5 Synonymous SNV V725V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 175538 chr19 2997899 2997904 TGTATT - TLE2 K603_Y604del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 175539 chr1 2415913 2415913 G T PLCH2 Synonymous SNV G197G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.561 175540 chr2 219509210 219509210 C T rs772765761 ZNF142 Nonsynonymous SNV G677S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.645 175541 chr2 219603279 219603279 G A rs561923612 TTLL4 Nonsynonymous SNV D294N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 175542 chr3 195594638 195594638 - TGGCGTACTTGGGGTC TNK2 Frameshift insertion T861Rfs*55 0 0.003 0 0 0 1 0 0 0 0 0 0 175543 chr3 19575180 19575180 A G rs746916974 KCNH8 Synonymous SNV Q971Q 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.336 175544 chr3 196386663 196386663 C G rs200138422 NRROS Nonsynonymous SNV S50W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 175545 chr2 223781214 223781214 C T rs748289341 ACSL3 Nonsynonymous SNV L186F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 175546 chr3 29938930 29938930 G A rs370849321 RBMS3 Synonymous SNV T283T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 14.62 175547 chr3 49699565 49699565 C T rs778415237 BSN Synonymous SNV D3429D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.732 175548 chr2 228172547 228172547 T G rs774014338 COL4A3 Synonymous SNV P1458P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.15 175549 chr3 183777780 183777780 G T HTR3C Nonsynonymous SNV A364S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.694 175550 chr3 52403861 52403861 G A rs201198770 DNAH1 Synonymous SNV E1988E 0.004 0.003 0.014 3 5 1 0.008 4 0 0 0 0 Likely benign 11.15 175551 chr3 37476496 37476496 G A rs555265841 C3orf35 Nonsynonymous SNV A130T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.41 175552 chr3 8794670 8794670 G A rs776881012 OXTR Nonsynonymous SNV T388M 0 0.003 0 0 0 1 0 0 0 0 0 0 6.685 175553 chr3 52518647 52518647 G A rs745628221 NISCH Synonymous SNV A549A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.42 175554 chr3 184071510 184071510 C T rs141242566 CLCN2 Nonsynonymous SNV D555N 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 34 175555 chr2 233181 233181 C T rs753038620 SH3YL1 Synonymous SNV T151T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.747 175556 chr3 108205281 108205281 G C rs758028047 MYH15 Nonsynonymous SNV L342V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 175557 chr19 7619099 7619099 G C rs779055692 PNPLA6 Synonymous SNV P802P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 175558 chr3 187446253 187446253 C T rs376883234 BCL6 Nonsynonymous SNV G479S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 175559 chr3 11374490 11374490 G A rs374125952 ATG7 Nonsynonymous SNV R232H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 175560 chr1 26665873 26665873 C G rs142035096 CRYBG2 Nonsynonymous SNV K1084N 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 17.82 175561 chr2 23929380 23929380 C T rs1020471423 KLHL29 Nonsynonymous SNV A825V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 175562 chr2 241404154 241404154 C T rs779906268 GPC1 Synonymous SNV L335L 0 0 0.01 0 0 0 0 3 0 0 0 0 3.289 175563 chr3 195594300 195594300 G A rs371220744 TNK2 Nonsynonymous SNV R974W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.32 175564 chr4 10445505 10445505 C G ZNF518B Synonymous SNV V816V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.26 175565 chr3 124153250 124153250 G A rs139299626 KALRN Nonsynonymous SNV A974T 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 20.8 175566 chr3 28335951 28335951 C A rs145783285 CMC1 Nonsynonymous SNV Q46K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.819 175567 chr3 124731591 124731591 G A rs141520830 HEG1 Synonymous SNV L944L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.738 175568 chr1 35915492 35915492 G A rs144204083 KIAA0319L Nonsynonymous SNV R777W 0.001 0 0 5 1 0 0.013 0 0 0 0 0 Likely benign 34 175569 chr1 36291567 36291567 G C AGO4 Nonsynonymous SNV E222D 0 0 0 2 0 0 0.005 0 0 0 0 0 10.29 175570 chr3 46875448 46875448 G A PRSS42P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.366 175571 chr3 48488208 48488208 G T ATRIP-TREX1 0 0.005 0 0 0 2 0 0 0 0 0 0 6.063 175572 chr3 48501519 48501519 G A rs145979024 ATRIP Nonsynonymous SNV G263R 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 24.9 175573 chr3 48646718 48646718 C A UQCRC1 Synonymous SNV T29T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.09 175574 chr2 27430411 27430411 C A SLC5A6 Synonymous SNV L36L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.63 175575 chr3 49041623 49041623 C T rs199611252 P4HTM Nonsynonymous SNV R273W 0 0.005 0 0 0 2 0 0 0 0 0 0 34 175576 chr2 27601897 27601897 C T ZNF513 Nonsynonymous SNV G17E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.4 175577 chr3 49881319 49881319 C T rs186312616 TRAIP Nonsynonymous SNV R108Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 26 175578 chr4 110384735 110384735 A C rs144453883 SEC24B Nonsynonymous SNV Q271P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.229 175579 chr2 32668631 32668631 A G rs61754194 BIRC6 Synonymous SNV S1437S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.826 175580 chr3 38768111 38768111 T C SCN10A Nonsynonymous SNV I927V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.382 175581 chr3 52535319 52535319 G A STAB1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 175582 chr4 128694557 128694557 G A rs139552475 SLC25A31 Nonsynonymous SNV R259Q 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 175583 chr3 43122900 43122900 G A rs780544642 POMGNT2 Synonymous SNV N8N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.583 175584 chr3 55108187 55108187 C T rs775698175 CACNA2D3 Nonsynonymous SNV T1077I 0 0.005 0 0 0 2 0 0 0 0 0 0 0.044 175585 chr19 12127254 12127254 T G rs202218817 ZNF433 Nonsynonymous SNV K143T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 175586 chr3 56653814 56653814 A - rs764896167 CCDC66 K850Nfs*20 0 0.005 0 0 0 2 0 0 0 0 0 0 175587 chr3 56653820 56653820 G C rs146236480 CCDC66 Nonsynonymous SNV R851P 0 0.005 0 0 0 2 0 0 0 0 0 0 23 175588 chr19 12186992 12186992 A G rs139402994 ZNF844 Nonsynonymous SNV R353G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.251 175589 chr2 55040396 55040396 C G EML6 Synonymous SNV L75L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 175590 chr19 12251059 12251059 G T rs761597170 ZNF625-ZNF20 0 0 0 1 0 0 0.003 0 0 0 0 0 4.117 175591 chr19 12253490 12253490 A G rs143783881 ZNF625-ZNF20 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.272 175592 chr4 15437462 15437462 A C rs367641365 C1QTNF7 Nonsynonymous SNV Y39S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 175593 chr4 154625558 154625558 T C rs371484518 TLR2 Nonsynonymous SNV M500T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 175594 chr3 14223147 14223147 C T rs139645084 LSM3 Stop gain R37X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 37 175595 chr2 65237867 65237867 C T SLC1A4 Nonsynonymous SNV A37V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 175596 chr20 48166617 48166617 C T rs201673445 PTGIS Nonsynonymous SNV G62S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 175597 chr3 46063251 46063251 C T rs145945700 XCR1 Synonymous SNV E63E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.65 175598 chr3 87325586 87325586 A G rs35560664 POU1F1 Synonymous SNV A9A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 7.601 175599 chr3 8923105 8923105 T C RAD18 Nonsynonymous SNV N475S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.399 175600 chr3 47018211 47018211 A G rs140741650 CCDC12 Synonymous SNV T4T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.345 175601 chr3 9495538 9495538 G A rs376767548 SETD5 Nonsynonymous SNV C821Y 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 21.9 175602 chr2 64144060 64144060 G T rs374339034 VPS54 Synonymous SNV V722V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 175603 chr19 15789121 15789121 C T rs202032172 CYP4F12 Synonymous SNV T83T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.172 175604 chr4 170028161 170028161 C T rs760639487 SH3RF1 Nonsynonymous SNV G779R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.38 175605 chr1 57209853 57209853 C G rs140047407 FYB2 Nonsynonymous SNV D492H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.3 175606 chr3 9982853 9982853 C A CRELD1 Stop gain C232X 0 0.005 0 0 0 2 0 0 0 0 0 0 36 175607 chr3 49758061 49758061 C T RNF123 Synonymous SNV D1206D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 175608 chr4 183522195 183522195 T C rs979262769 TENM3 Synonymous SNV N210N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.364 175609 chr4 102981534 102981534 A G rs762470747 BANK1 Synonymous SNV E579E 0 0.005 0 0 0 2 0 0 0 0 0 0 6.065 175610 chr19 17476478 17476478 C G rs61739312 PLVAP Nonsynonymous SNV A266P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.66 175611 chr4 187118235 187118235 A T rs11932764 CYP4V2 Synonymous SNV A185A 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Benign 3.206 175612 chr4 187126449 187126449 C T rs10029149 CYP4V2 Synonymous SNV D361D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 11.5 175613 chr3 52771715 52771715 T C rs143790506 NEK4 Nonsynonymous SNV K685E 0.002 0.005 0 0 2 2 0 0 1 0 0 0 29.5 175614 chr3 52823743 52823743 C T rs200937858 ITIH1 Nonsynonymous SNV R444W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 175615 chr3 101540335 101540335 G A NXPE3 Nonsynonymous SNV R337H 0 0 0.007 0 0 0 0 2 0 0 0 0 33 175616 chr1 68949722 68949722 T C DEPDC1 Nonsynonymous SNV D274G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 175617 chr3 111766777 111766777 G A rs367735856 TMPRSS7 Nonsynonymous SNV D182N 0 0 0.003 0 0 0 0 1 0 0 0 0 27 175618 chr3 184062421 184062421 C G FAM131A Nonsynonymous SNV S170C 0.002 0 0 0 2 0 0 0 0 0 0 0 27 175619 chr1 76269451 76269451 A G rs150878521 MSH4 Nonsynonymous SNV N94D 0 0 0 3 0 0 0.008 0 0 0 0 0 5.774 175620 chr1 77632465 77632465 A G PIGK Synonymous SNV S142S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 8.073 175621 chr4 30921913 30921913 G T rs61748744 PCDH7 Nonsynonymous SNV A1105S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 21.1 175622 chr3 77526611 77526611 A C rs758500144 ROBO2 Synonymous SNV A145A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.106 175623 chr3 78700929 78700929 C T rs80104116 ROBO1 Nonsynonymous SNV R886H 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 Benign 31 175624 chr3 78710289 78710289 T A rs35446711 ROBO1 Synonymous SNV V701V 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 Benign 10.41 175625 chr3 79067564 79067564 G C rs562870432 ROBO1 Synonymous SNV L16L 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 14.14 175626 chr3 119962868 119962868 A T GPR156 Nonsynonymous SNV D26E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 175627 chr21 22841003 22841003 A G NCAM2 Nonsynonymous SNV I457V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.4 175628 chr19 33090941 33090941 T C rs770093544 ANKRD27 Nonsynonymous SNV Y928C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.7 175629 chr4 25270074 25270074 A G PI4K2B Nonsynonymous SNV H363R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.5 175630 chr3 122324812 122324812 T C rs200038668 PARP15 Synonymous SNV D72D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 175631 chr3 122329380 122329380 C T rs76273623 PARP15 Nonsynonymous SNV L116F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 175632 chr3 122332100 122332100 C T rs75757385 PARP15 Synonymous SNV D252D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.82 175633 chr4 3495138 3495138 G T rs777626370 DOK7 Nonsynonymous SNV W165C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 21.7 175634 chr4 53610427 53610427 G T ERVMER34-1 Synonymous SNV R421R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.115 175635 chr4 1018702 1018702 C T rs771759616 FGFRL1 Nonsynonymous SNV P361L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 175636 chr4 55575593 55575593 C T rs72549293 KIT Synonymous SNV Y373Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 5.393 175637 chr4 38916672 38916672 T C FAM114A1 Nonsynonymous SNV L101P 0.001 0 0 0 1 0 0 0 0 0 0 0 30 175638 chr4 156135360 156135360 C T rs757654478 NPY2R Nonsynonymous SNV A90V 0 0.005 0 0 0 2 0 0 0 0 0 0 20.4 175639 chr3 27473053 27473055 GAA - rs767889873 SLC4A7 L295del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 175640 chr3 128291953 128291953 C G rs879936826 LINC01565 0 0 0.003 0 0 0 0 1 0 0 0 0 4.292 175641 chr4 156634350 156634350 G A rs377442806 GUCY1A1 Nonsynonymous SNV R396Q 0 0.005 0 0 0 2 0 0 0 0 0 0 23.9 175642 chr3 30691774 30691774 C T rs774840447 TGFBR2 Synonymous SNV D92D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.32 175643 chr4 40946971 40946971 C G rs200056833 APBB2 Nonsynonymous SNV E318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 175644 chr4 158091844 158091844 G C rs377603371 GLRB Nonsynonymous SNV L486F 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 175645 chr4 166024248 166024248 C G TMEM192 Nonsynonymous SNV G10R 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 175646 chr4 120192785 120192785 A G rs781274638 USP53 Synonymous SNV T539T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 2.156 175647 chr3 13395460 13395460 G A NUP210 Stop gain Q826X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 175648 chr4 57180739 57180739 G C rs112530577 CRACD Nonsynonymous SNV E357D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.782 175649 chr3 138224274 138224274 G C rs61996332 CEP70 Nonsynonymous SNV P210A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 20.6 175650 chr4 76785594 76785594 T G rs78305413 PPEF2 Synonymous SNV S669S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.95 175651 chr4 76788499 76788499 T A rs17000961 PPEF2 Nonsynonymous SNV S575C 0 0.003 0.014 1 0 1 0.003 4 0 0 0 0 2.308 175652 chr4 76788564 76788564 C T rs34155925 PPEF2 Nonsynonymous SNV R553K 0 0.003 0.014 1 0 1 0.003 4 0 0 0 0 22 175653 chr4 76797580 76797580 C G rs34097437 PPEF2 Nonsynonymous SNV V394L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.16 175654 chr4 76877163 76877163 G A rs202126090 SDAD1 Nonsynonymous SNV R624W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.5 175655 chr3 12623722 12623722 C T rs34924942 MKRN2 Synonymous SNV H364H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 175656 chr3 43074499 43074499 G A rs949797328 GASK1A Synonymous SNV L248L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.24 175657 chr4 77244510 77244510 C T rs372030998 CCDC158 Synonymous SNV Q1070Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.72 175658 chr4 7811390 7811390 C T rs757185908 AFAP1 Synonymous SNV P335P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 175659 chr4 147561147 147561147 C A rs147517729 POU4F2 Nonsynonymous SNV D139E 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 25.2 175660 chr19 40366419 40366419 G A rs377299687 FCGBP Synonymous SNV Y4605Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 1.263 175661 chr19 40899941 40899941 C T rs138437458 PRX Nonsynonymous SNV V1440M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 26.7 175662 chr4 151207180 151207180 G A rs202244838 LRBA Nonsynonymous SNV T2674I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 16.6 175663 chr3 15297496 15297496 G C SH3BP5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 175664 chr3 167344702 167344702 C T rs533205745 WDR49 Nonsynonymous SNV D182N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 175665 chr4 159528250 159528250 T C rs901234212 RXFP1 Nonsynonymous SNV L12S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.004 175666 chr4 169189009 169189009 G A rs777200880 DDX60 Nonsynonymous SNV S971L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 175667 chr4 89034472 89034472 G A rs942676490 ABCG2 Stop gain Q393X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 44 175668 chr3 137953908 137953908 C T rs370035658 ARMC8 Synonymous SNV H114H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 175669 chr3 183777373 183777373 C T rs77835768 HTR3C Synonymous SNV N290N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 175670 chr3 183994297 183994297 G A rs749865348 ECE2 Nonsynonymous SNV R23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.19 175671 chr19 44660417 44660417 A G rs200302391 ZNF234 Nonsynonymous SNV Q83R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.634 175672 chr4 84205930 84205930 G C COQ2 Synonymous SNV G46G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.134 175673 chr22 24982063 24982063 C T rs201574647 LRRC75B Nonsynonymous SNV G247S 0.004 0 0 0 5 0 0 0 0 0 0 0 24.5 175674 chr4 48578067 48578067 C T rs375943517 FRYL Nonsynonymous SNV G901S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.7 175675 chr19 46181172 46181172 C A GIPR Nonsynonymous SNV F275L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.5 175676 chr3 64536694 64536694 C A rs146412036 ADAMTS9 Synonymous SNV V1553V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 17.21 175677 chr19 47570445 47570445 G A rs374774621 ZC3H4 Nonsynonymous SNV P1027L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.33 175678 chr20 43093859 43093859 C A rs150454505 LINC01620 0.003 0 0 3 3 0 0.008 0 0 0 0 0 5.033 175679 chr19 47918030 47918030 C T rs148306407 MEIS3 Nonsynonymous SNV G164S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.271 175680 chr4 57777038 57777038 G T rs61748752 REST Synonymous SNV P78P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 9.532 175681 chr3 25824857 25824857 A T rs748917973 NGLY1 Nonsynonymous SNV S9T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 14.32 175682 chr5 108382840 108382840 A G rs745831489 FER Nonsynonymous SNV K253R 0.002 0 0 0 2 0 0 0 0 0 0 0 24 175683 chr5 10973781 10973781 G A rs148459685 CTNND2 Synonymous SNV Y817Y 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 0.391 175684 chr4 69962448 69962448 C T rs151180306 UGT2B7 Synonymous SNV S70S 0 0.005 0 0 0 2 0 0 0 0 0 0 11.47 175685 chr4 2692552 2692552 A G FAM193A Synonymous SNV L595L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.192 175686 chr5 112178212 112178212 G A rs2229993 APC Synonymous SNV S2289S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 2.081 175687 chr3 17416013 17416013 T C TBC1D5 Nonsynonymous SNV M122V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 175688 chr4 3076615 3076615 - CAGCAGCAG HTT Q38_P39insQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 175689 chr4 71063018 71063018 C T rs181660659 ODAM Nonsynonymous SNV L41F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 175690 chr3 40553962 40553962 C T rs776003566 ZNF620 Nonsynonymous SNV P74L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.051 175691 chr4 79258955 79258955 C T rs753630532 FRAS1 Synonymous SNV L802L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.3 175692 chr4 79301123 79301123 G A rs749383603 FRAS1 Nonsynonymous SNV R1179H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.2 175693 chr3 42739646 42739646 G A rs373130948 HHATL Synonymous SNV R227R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.546 175694 chr5 132652261 132652263 CTT - rs763836277 FSTL4 E164del 0.002 0 0 0 2 0 0 0 0 0 0 0 175695 chr4 48517106 48517106 C G FRYL Nonsynonymous SNV A2626P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 175696 chr3 44844451 44844451 C G rs752381196 KIF15 Nonsynonymous SNV S552C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 175697 chr4 48611823 48611823 T C rs750429995 FRYL Synonymous SNV V143V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.014 175698 chr5 135288647 135288647 C T rs201289201 LECT2 Nonsynonymous SNV G19E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 175699 chr22 43606215 43606215 G A rs34449827 SCUBE1 Synonymous SNV Y805Y 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 3.174 175700 chr4 88415680 88415680 G T rs11557437 SPARCL1 Nonsynonymous SNV S91Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 175701 chr5 139918666 139918666 C G ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV Q2523E 0.004 0 0 0 5 0 0 0 0 0 0 0 23.4 175702 chr3 47307226 47307226 A T rs138701088 KIF9 Nonsynonymous SNV S304T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 26.3 175703 chr4 6612846 6612846 G A rs755241862 MAN2B2 Nonsynonymous SNV D751N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 175704 chr19 52659631 52659631 G T rs372781291 ZNF836 Synonymous SNV I435I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.015 175705 chr4 134073951 134073951 C T PCDH10 Nonsynonymous SNV H886Y 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 10.7 175706 chr4 142053488 142053488 G A rs61744460 RNF150 Nonsynonymous SNV P159S 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 9.547 175707 chr4 142145824 142145824 A G ZNF330 Synonymous SNV A68A 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 7.983 175708 chr3 50255129 50255129 G A rs587742060 SLC38A3 Nonsynonymous SNV V238M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.69 175709 chr3 30713674 30713674 A G rs2229102 TGFBR2 Synonymous SNV L333L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 2.363 175710 chr4 148550777 148550777 C T rs767218980 TMEM184C Synonymous SNV D200D 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 16.23 175711 chr5 148729255 148729257 AAG - rs759678955 GRPEL2 I90_R91delinsM 0 0.003 0 0 0 1 0 0 0 0 0 0 175712 chr3 53857643 53857643 G C CHDH Synonymous SNV S131S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.46 175713 chr4 15601294 15601294 A G rs369986526 CC2D2A Nonsynonymous SNV R1547G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.91 175714 chr3 57312516 57312517 CA - rs761976326 ASB14 L155Pfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 175715 chr3 57312518 57312518 G T rs765032884 ASB14 Nonsynonymous SNV L155M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 175716 chr2 101924635 101924635 T C rs143827530 RNF149 Nonsynonymous SNV N139S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.4 175717 chr3 57312521 57312521 T A rs752384812 ASB14 Nonsynonymous SNV M154L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 175718 chr5 1294109 1294109 A T TERT Nonsynonymous SNV S298T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.024 175719 chr5 1294650 1294650 G A TERT Synonymous SNV T117T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.434 175720 chr5 132161244 132161244 C T rs567001908 SHROOM1 Nonsynonymous SNV E197K 0 0.005 0 0 0 2 0 0 0 0 0 0 20.9 175721 chr5 156522368 156522368 T A HAVCR2 Nonsynonymous SNV I209F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.5 175722 chr5 150036178 150036178 - C SYNPO Frameshift insertion S750Qfs*121 0.001 0 0 0 1 0 0 0 0 0 0 0 175723 chr5 13721171 13721171 C T rs757109346 DNAH5 Nonsynonymous SNV V4073M 0 0.008 0.003 0 0 3 0 1 0 0 0 0 Uncertain significance 31 175724 chr3 97686159 97686159 C T rs34097037 RIOX2 Synonymous SNV G93G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.211 175725 chr5 13794162 13794162 C T rs371810104 DNAH5 Synonymous SNV T2631T 0 0.008 0 0 0 3 0 0 0 0 0 0 9.853 175726 chr5 16701465 16701465 G A rs370548236 MYO10 Synonymous SNV H1013H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.436 175727 chr4 95204386 95204386 C T rs759461767 SMARCAD1 Synonymous SNV H517H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.7 175728 chr4 96124100 96124100 C T rs776415886 UNC5C Nonsynonymous SNV G640R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 175729 chr19 56052792 56052792 T A rs1035483528 SBK3 Nonsynonymous SNV D167V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 175730 chr19 56055505 56055505 G C rs368790543 SBK3 Stop gain Y120X 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 27.7 175731 chr5 140755929 140755929 C G rs186469397 PCDHGA6 Nonsynonymous SNV T760S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 18.87 175732 chr21 45744388 45744388 C T PFKL Synonymous SNV I555I 0 0 0 4 0 0 0.01 0 0 0 0 0 12.63 175733 chr5 145882943 145882943 A G rs151012773 TCERG1 Synonymous SNV K775K 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 10.7 175734 chr21 46876004 46876004 C A rs142892701 COL18A1 Nonsynonymous SNV T187N 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 12.41 175735 chr3 51430316 51430316 C T rs782736874 RBM15B Nonsynonymous SNV R496W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.6 175736 chr19 57868684 57868684 G T rs201901759 ZNF304 Nonsynonymous SNV A483S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.524 175737 chr3 52415737 52415737 G A rs61734632 DNAH1 Nonsynonymous SNV A2564T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 34 175738 chr5 132159914 132159914 G A rs151268300 SHROOM1 Nonsynonymous SNV P480L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.585 175739 chr5 149677017 149677017 A G ARSI Synonymous SNV A490A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 1.986 175740 chr19 58926921 58926921 C T rs150004526 ZNF584 Nonsynonymous SNV T59I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.575 175741 chr5 33546207 33546207 T C rs61753559 ADAMTS12 Nonsynonymous SNV N1383S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.85 175742 chr19 58982735 58982735 G A rs143539592 ZNF324 Synonymous SNV K292K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.887 175743 chr4 153457477 153457477 C T rs61754916 MIR4453HG 0 0 0.007 0 0 0 0 2 0 0 0 0 9.645 175744 chr4 154624824 154624824 A G rs376758338 TLR2 Synonymous SNV T255T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 175745 chr20 278552 278552 G A ZCCHC3 Nonsynonymous SNV V109M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.429 175746 chr20 1559155 1559155 G A rs62641724 SIRPB1 Nonsynonymous SNV R88W 0.001 0.005 0 1 1 2 0.003 0 0 1 0 0 24.6 175747 chr5 40763072 40763072 T C PRKAA1 Synonymous SNV S352S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.153 175748 chr20 1629931 1629931 C A rs143474967 SIRPG Nonsynonymous SNV W66L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.1 175749 chr5 34020754 34020754 G A rs753045172 C1QTNF3 Synonymous SNV G225G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.25 175750 chr4 169083774 169083774 G A rs763986667 ANXA10 Synonymous SNV E97E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.008 175751 chr4 174298452 174298452 C T rs746129404 SAP30 Nonsynonymous SNV L213F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 175752 chr5 140783490 140783490 G T rs199643799 PCDHGA9 Nonsynonymous SNV G324V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 22.3 175753 chr22 24096550 24096550 T C VPREB3 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 16.57 175754 chr5 5140855 5140855 C A rs199867877 ADAMTS16 Synonymous SNV R51R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 175755 chr5 161944 161944 G A rs529537081 PLEKHG4B Nonsynonymous SNV R845H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.334 175756 chr5 167625874 167625874 A T TENM2 Nonsynonymous SNV N741Y 0 0.005 0 0 0 2 0 0 0 0 0 0 26.1 175757 chr5 145838642 145838653 CAGGCCCAGGCC - TCERG1 A239_Q242del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 175758 chr5 174151962 174151962 G T MSX2 Nonsynonymous SNV E100D 0 0.005 0 0 0 2 0 0 0 0 0 0 5.583 175759 chr5 60067873 60067873 T C rs750549527 ELOVL7 Nonsynonymous SNV T38A 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 16.9 175760 chr5 174153 174153 A G rs749716831 PLEKHG4B Nonsynonymous SNV K1448E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.5 175761 chr5 54420673 54420673 C G rs772950577 CDC20B Nonsynonymous SNV Q391H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.136 175762 chr4 187539205 187539205 C T rs138948513 FAT1 Nonsynonymous SNV M2845I 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 9.687 175763 chr4 187542076 187542076 A G rs759235405 FAT1 Synonymous SNV L1888L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 175764 chr5 176823849 176823849 C T rs774126797 SLC34A1 Synonymous SNV I430I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 3.072 175765 chr4 1980563 1980563 C T rs201619712 NSD2 Nonsynonymous SNV P1342L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.428 175766 chr4 2176424 2176424 A G rs138077251 POLN Synonymous SNV L435L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.371 175767 chr4 25317007 25317007 C G ZCCHC4 Nonsynonymous SNV T105R 0 0 0.007 0 0 0 0 2 0 0 0 0 1.894 175768 chr5 150922599 150922599 T C rs771807638 FAT2 Nonsynonymous SNV T2697A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.02 175769 chr5 179106187 179106187 G A rs559067540 CBY3 Synonymous SNV S42S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 6.365 175770 chr5 179320325 179320325 G A rs199544805 TBC1D9B Synonymous SNV L240L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.36 175771 chr22 36424305 36424305 C T rs558742349 RBFOX2 Nonsynonymous SNV G57S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.3 175772 chr5 180048641 180048641 G A rs55667289 FLT4 Nonsynonymous SNV P641S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 23.1 175773 chr20 30659538 30659538 C G rs147906206 HCK Nonsynonymous SNV P25A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 175774 chr20 30661553 30661553 T C rs141150727 HCK Synonymous SNV Y66Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.42 175775 chr20 30737475 30737475 C T rs140822755 TM9SF4 Synonymous SNV H314H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.893 175776 chr4 37962224 37962224 C T PTTG2 Nonsynonymous SNV P57S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.358 175777 chr4 38053599 38053599 C T rs117452860 TBC1D1 Nonsynonymous SNV P664S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 21.3 175778 chr5 31526300 31526300 A T DROSHA Nonsynonymous SNV L247Q 0 0.005 0 0 0 2 0 0 0 0 0 0 10.77 175779 chr5 15928459 15928459 C T rs191291497 FBXL7 Synonymous SNV C149C 0 0.005 0 2 0 2 0.005 0 0 0 0 0 10.62 175780 chr5 33643560 33643560 G A rs61748199 ADAMTS12 Synonymous SNV L499L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.406 175781 chr3 45266806 45266806 C T TMEM158 Synonymous SNV V238V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.56 175782 chr3 46014624 46014624 C T rs139730012 FYCO1 Synonymous SNV A165A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.29 175783 chr5 74986256 74986256 T C rs752837507 POC5 Synonymous SNV E284E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.35 175784 chr4 4247956 4247956 G A rs113293392 TMEM128 Nonsynonymous SNV T71I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 175785 chr5 167654983 167654983 A G rs139130485 TENM2 Nonsynonymous SNV S1551G 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 23.5 175786 chr4 4322912 4322912 G A rs143670850 ZBTB49 Nonsynonymous SNV G723S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 175787 chr5 434196 434196 G T rs149786309 AHRR Synonymous SNV S451S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.704 175788 chr20 39990481 39990481 C T rs113190238 EMILIN3 Synonymous SNV T576T 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 8.556 175789 chr20 39990833 39990833 C T rs2235591 EMILIN3 Nonsynonymous SNV G459E 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 0.019 175790 chr5 90046399 90046399 A T ADGRV1 Nonsynonymous SNV E3669V 0 0.003 0 0 0 1 0 0 0 0 0 0 28 175791 chr4 151770605 151770605 A C LRBA Nonsynonymous SNV L1376R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28.5 175792 chr5 55472001 55472001 C T rs777720577 ANKRD55 Nonsynonymous SNV S97N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 175793 chr3 52476899 52476899 G A rs138988057 SEMA3G Nonsynonymous SNV A47V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.7 175794 chr20 44567662 44567662 C G rs201439678 PCIF1 Nonsynonymous SNV S8R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.2 175795 chr3 52536035 52536035 C T rs757735631 STAB1 Synonymous SNV G115G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.37 175796 chr20 47266574 47266574 A G rs150799724 PREX1 Synonymous SNV F996F 0 0 0 1 0 0 0.003 0 0 0 0 0 5.264 175797 chr5 94833153 94833153 T C rs376083373 TTC37 Synonymous SNV R1201R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.583 175798 chr5 94859493 94859493 C T TTC37 Nonsynonymous SNV G500S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 175799 chr20 47683022 47683022 C T rs916723000 CSE1L Nonsynonymous SNV R151C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 175800 chr4 74451082 74451082 C A RASSF6 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 175801 chr22 50659298 50659298 C T rs9628306 TUBGCP6 Nonsynonymous SNV V1164M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.71 175802 chr6 109578916 109578916 T C rs776330819 CCDC162P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.49 175803 chr5 112111371 112111371 C G rs752627126 APC Nonsynonymous SNV D166E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.06 175804 chr5 112154850 112154850 G A rs141582813 APC Nonsynonymous SNV R356Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 175805 chr6 110726093 110726093 C T rs755136198 DDO Synonymous SNV L114L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.12 175806 chr5 118811424 118811424 T C rs757654548 HSD17B4 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 175807 chr5 118970146 118970146 C T rs761874342 FAM170A Nonsynonymous SNV R188W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 175808 chr5 40958285 40958285 A T rs371379073 C7 Nonsynonymous SNV T471S 0.006 0.016 0 1 7 6 0.003 0 0 0 0 0 14.62 175809 chr5 78985833 78985833 G A rs141830505 CMYA5 Nonsynonymous SNV E35K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 27.8 175810 chr6 112463377 112463377 G A rs782774293 LAMA4 Nonsynonymous SNV R871W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 22 175811 chr20 61471925 61471925 C T rs74830351 COL9A3 Synonymous SNV D632D 0.005 0 0.01 1 6 0 0.003 3 0 0 0 0 Benign/Likely benign 10.72 175812 chr6 12163944 12163944 C T rs143661710 HIVEP1 Synonymous SNV I2469I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.028 175813 chr5 127641576 127641576 G A rs375136629 FBN2 Synonymous SNV G1829G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.49 175814 chr4 187075745 187075745 T C FAM149A Synonymous SNV H112H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 175815 chr6 129204451 129204451 C G rs886061039 LAMA2 Nonsynonymous SNV Q21E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 3.282 175816 chr2 233350610 233350610 C T ECEL1 Nonsynonymous SNV D252N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 175817 chr5 108168579 108168579 G T rs200116493 FER Nonsynonymous SNV D106Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 175818 chr5 135229752 135229752 C T rs770338397 IL9 Nonsynonymous SNV R91Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23 175819 chr20 62378397 62378397 G A rs141237065 ZBTB46 Synonymous SNV D552D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.979 175820 chr20 62493596 62493596 C T rs143664785 ABHD16B Nonsynonymous SNV H235Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.846 175821 chr5 55260013 55260013 C A rs760602924 IL6ST Nonsynonymous SNV V207F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.4 175822 chr5 118533499 118533499 A G rs17144974 DMXL1 Synonymous SNV Q2531Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.492 175823 chr6 135371752 135371752 A G rs754443560 HBS1L Nonsynonymous SNV V26A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 24.4 175824 chr4 100575317 100575317 G A rs763719905 C4orf54 Synonymous SNV D163D 0.004 0.008 0 0 5 3 0 0 0 0 0 0 5.496 175825 chr5 9122781 9122781 C T rs201518183 SEMA5A Nonsynonymous SNV A590T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.15 175826 chr5 129241155 129241155 C T rs778319677 CHSY3 Synonymous SNV P211P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 175827 chr5 68578845 68578845 T G rs146206606 CCDC125 Nonsynonymous SNV E416A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 175828 chr5 131409609 131409609 G A CSF2 Synonymous SNV E31E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.657 175829 chr5 96078456 96078456 A G rs144157006 CAST Nonsynonymous SNV D262G 0 0.008 0 0 0 3 0 0 0 0 0 0 23.6 175830 chr5 71494474 71494474 A T rs754864629 MAP1B Synonymous SNV S1638S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 175831 chr5 140235875 140235875 G A rs143002904 PCDHA10 Nonsynonymous SNV G81D 0.001 0.008 0 0 1 3 0 0 0 1 0 0 27.2 175832 chr5 73236680 73236680 T C rs282414 ARHGEF28 Nonsynonymous SNV S1341P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 20.4 175833 chr6 151089795 151089795 G A rs559034455 PLEKHG1 Nonsynonymous SNV D204N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 175834 chr6 11185863 11185863 G A rs144637323 NEDD9 Synonymous SNV P530P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.832 175835 chr5 140250005 140250005 G C rs371557347 PCDHA11 Nonsynonymous SNV R439S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 175836 chr5 140603651 140603651 C T rs781859431 PCDHB14 Nonsynonymous SNV P192S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 175837 chr5 14610337 14610337 T G rs114249604 OTULINL Nonsynonymous SNV C329G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.65 175838 chr5 140755232 140755232 C T rs114223268 PCDHGA6 Synonymous SNV L528L 0.005 0 0.007 0 6 0 0 2 0 0 0 0 1.006 175839 chr5 140783285 140783285 C T rs77227638 PCDHGA9 Nonsynonymous SNV P256S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.76 175840 chr2 157186291 157186291 C G NR4A2 Nonsynonymous SNV Q136H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.18 175841 chr5 142437296 142437296 A G rs200233602 ARHGAP26 Nonsynonymous SNV M508V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 175842 chr5 149677127 149677127 G T ARSI Synonymous SNV R454R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.962 175843 chr5 143059495 143059495 G T rs77549240 MIR5197 0 0 0.01 0 0 0 0 3 0 0 0 0 7.165 175844 chr5 150227827 150227827 A G rs1027625080 IRGM Nonsynonymous SNV T48A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.48 175845 chr6 131919806 131919806 G A rs143671912 MED23 Synonymous SNV N772N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.031 175846 chr21 46876435 46876435 G A COL18A1 Nonsynonymous SNV A331T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.385 175847 chr5 98239582 98239582 C T rs34128229 CHD1 Nonsynonymous SNV V96I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 175848 chr6 13711342 13711342 G C rs577515421 RANBP9 Synonymous SNV P132P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.175 175849 chr5 154300977 154300977 T G rs115228276 GEMIN5 Nonsynonymous SNV Q462P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 25.3 175850 chr5 154316671 154316671 G A rs35359985 GEMIN5 Nonsynonymous SNV L81F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 21 175851 chr6 10557000 10557000 T C rs993886125 GCNT2 Nonsynonymous SNV I115T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.9 175852 chr6 170114831 170114831 C T PHF10 Synonymous SNV K267K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.7 175853 chr22 19175161 19175161 A G rs199562273 CLTCL1 Nonsynonymous SNV M1505T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.18 175854 chr6 11104680 11104680 G C rs145616782 ERVFRD-1 Nonsynonymous SNV I288M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 175855 chr5 154395714 154395714 T C rs373981206 KIF4B Synonymous SNV N765N 0 0 0.007 0 0 0 0 2 0 0 0 0 2.737 175856 chr5 157218931 157218931 G A rs776375121 CLINT1 Nonsynonymous SNV A387V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 175857 chr5 16465645 16465645 C T rs772685755 ZNF622 Nonsynonymous SNV A44T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 175858 chr6 158094069 158094069 G A rs754058940 ZDHHC14 Nonsynonymous SNV R461H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.79 175859 chr6 35437988 35437988 T G RPL10A Nonsynonymous SNV S115A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 175860 chr6 36652078 36652078 G A rs45548832 CDKN1A Nonsynonymous SNV R67H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 175861 chr5 177614220 177614220 G A rs142630867 GMCL2 Synonymous SNV G27G 0 0 0.017 0 0 0 0 5 0 0 0 0 5.037 175862 chr5 178293256 178293256 A G rs753989544 ZNF354B Synonymous SNV T15T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 175863 chr5 178293259 178293259 C T rs530482815 ZNF354B Synonymous SNV F16F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.857 175864 chr6 160494420 160494420 T C IGF2R Synonymous SNV N1622N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.105 175865 chr2 186665778 186665778 C T rs150592318 FSIP2 Synonymous SNV S3915S 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 6.429 175866 chr6 39267234 39267234 G T rs755773646 KCNK17 Nonsynonymous SNV A323D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.79 175867 chr2 187500852 187500852 C T rs149545302 ITGAV Synonymous SNV Y189Y 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 Benign 10.15 175868 chr5 33643559 33643559 A T rs61753558 ADAMTS12 Nonsynonymous SNV L499Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 27 175869 chr5 33937622 33937622 C T rs374423735 RXFP3 Synonymous SNV D259D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.626 175870 chr6 168461473 168461473 C T rs753945376 FRMD1 Nonsynonymous SNV R369H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 175871 chr6 169982990 169982990 C T rs370224643 WDR27 Nonsynonymous SNV R631Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.8 175872 chr5 31983741 31983741 A G rs192212029 PDZD2 Synonymous SNV Q319Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.666 175873 chr5 32090894 32090894 G C rs773299680 PDZD2 Nonsynonymous SNV G2447A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 175874 chr22 36715610 36715610 G A rs56001030 MYH9 Synonymous SNV D361D 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 Benign/Likely benign 9.929 175875 chr5 121736789 121736789 G T SNCAIP Nonsynonymous SNV A56S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.674 175876 chr2 20205873 20205873 G C MATN3 Nonsynonymous SNV T141R 0 0 0 3 0 0 0.008 0 0 0 0 0 10.01 175877 chr6 152668235 152668235 T G rs780537297 SYNE1 Nonsynonymous SNV T3942P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.1 175878 chr2 97475128 97475128 C T rs552599408 CNNM4 Synonymous SNV D734D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.778 175879 chr6 155451506 155451506 C G rs775097601 TIAM2 Nonsynonymous SNV I383M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 22.9 175880 chr5 480229 480229 C T rs377277521 SLC9A3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.417 175881 chr6 155498100 155498100 T G TIAM2 Nonsynonymous SNV L838V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.001 175882 chr6 26412659 26412659 C T BTN3A1 Synonymous SNV T346T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.969 175883 chr6 43323167 43323167 T C ZNF318 Synonymous SNV S635S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.225 175884 chr6 43323399 43323399 G A ZNF318 Nonsynonymous SNV S558F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 175885 chr5 63626137 63626137 A G rs912450054 RNF180 Nonsynonymous SNV T495A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 175886 chr6 160482548 160482548 T C rs745869854 IGF2R Synonymous SNV N1092N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.835 175887 chr6 3273613 3273613 C T rs141353043 SLC22A23 Synonymous SNV A298A 0.007 0.005 0 0 8 2 0 0 0 0 0 0 Benign 15.35 175888 chr5 76128909 76128909 G A rs115885685 F2RL1 Nonsynonymous SNV M159I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 175889 chr2 217525499 217525499 C A rs200955784 IGFBP2 Nonsynonymous SNV P221H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 175890 chr3 113342278 113342278 C G SIDT1 Nonsynonymous SNV L642V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.375 175891 chr6 75804851 75804851 T C rs368321891 COL12A1 Synonymous SNV P1710P 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 Benign 8.151 175892 chr6 76657119 76657119 A T rs78305682 IMPG1 Synonymous SNV A574A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.007 175893 chr6 38877354 38877354 A G rs140935840 DNAH8 Nonsynonymous SNV M2975V 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 18.55 175894 chr6 39025309 39025309 G A rs10305444 GLP1R Synonymous SNV S79S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 12.5 175895 chr5 140794320 140794320 T C rs10041534 PCDHGA10 Synonymous SNV Y526Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 175896 chr6 82904256 82904256 G C rs369193847 IBTK Nonsynonymous SNV P1078R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 175897 chr5 78692692 78692692 G C HOMER1 Nonsynonymous SNV A147G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 175898 chr6 90090001 90090001 A C RRAGD Nonsynonymous SNV F177C 0 0.003 0 0 0 1 0 0 0 0 0 0 28 175899 chr22 50944200 50944200 G A rs61744504 LMF2 Synonymous SNV F248F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.13 175900 chr6 26104370 26104370 C T rs760797342 H4C3 Synonymous SNV N65N 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 13.08 175901 chr6 43565474 43565474 C G rs569896052 POLH Nonsynonymous SNV L54V 0 0.005 0 0 0 2 0 0 0 0 0 0 24.4 175902 chr7 100179404 100179404 G C rs778910871 LRCH4 Synonymous SNV P198P 0.007 0.01 0 2 8 4 0.005 0 0 0 0 0 7.43 175903 chr6 11190259 11190259 A G rs767160727 NEDD9 Nonsynonymous SNV C466R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 175904 chr6 28327522 28327522 C G ZKSCAN3 Synonymous SNV R53R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.748 175905 chrX 51150731 51150763 CTGCCCGCCGAGGCCGCGATTCTGCGCCAGTCT - EZHIP R290_A300del 0.003 0 0 5 3 0 0.013 0 0 0 0 1 175906 chr6 123786032 123786032 - A rs770690921 TRDN Frameshift insertion S297Ffs*32 0 0 0.003 1 0 0 0.003 1 0 0 0 0 175907 chr2 238990716 238990716 G T rs151214628 SCLY Nonsynonymous SNV A215S 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 4.133 175908 chr6 132930198 132930198 C T rs17061508 TAAR3P 0 0 0.024 0 0 0 0 7 0 0 0 0 14.57 175909 chrX 83411172 83411172 T C rs367763728 RPS6KA6 Nonsynonymous SNV I57V 0 0.005 0 1 0 2 0.003 0 0 1 0 0 14.58 175910 chr6 74473330 74473330 C A rs147944841 CD109 Nonsynonymous SNV F266L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.5 175911 chr6 144074925 144074925 C T rs376174253 PHACTR2 Synonymous SNV N110N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 175912 chr6 145148811 145148811 C T rs770391645 UTRN Stop gain R3200X 0 0 0.003 0 0 0 0 1 0 0 0 0 53 175913 chr6 146125520 146125520 C T rs781197362 FBXO30 Synonymous SNV Q674Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.038 175914 chr6 123384844 123384844 G T rs368122478 CLVS2 Nonsynonymous SNV V308L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19.01 175915 chr7 106876917 106876917 C T rs755123799 COG5 Nonsynonymous SNV R700Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 35 175916 chr7 100085779 100085779 A C rs765841984 NYAP1 Synonymous SNV S145S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 175917 chr6 160858187 160858187 C T SLC22A3 Nonsynonymous SNV A411V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 175918 chr2 29295746 29295746 A G rs377498611 PCARE Nonsynonymous SNV I461T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 0.001 175919 chr7 105645092 105645092 C T rs7783527 CDHR3 Synonymous SNV D249D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.65 175920 chr5 136963990 136963990 G A rs562736621 KLHL3 Synonymous SNV N447N 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 11.71 175921 chr6 166353634 166353634 A C rs56386360 LINC00473 0 0 0.01 0 0 0 0 3 0 0 0 0 1.59 175922 chr6 166354075 166354075 G A rs41269579 LINC00473 0 0 0.014 0 0 0 0 4 0 0 0 0 3.189 175923 chr6 51897909 51897909 C G PKHD1 Nonsynonymous SNV V1095L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.59 175924 chr7 121758440 121758440 T C AASS Nonsynonymous SNV Y203C 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 28.6 175925 chr2 3261095 3261095 T C rs201697774 EIPR1 Nonsynonymous SNV N131D 0 0 0 3 0 0 0.008 0 0 0 0 0 4.885 175926 chr6 170604543 170604543 T G rs748439777 FAM120B 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.754 175927 chr7 117067511 117067511 C T rs927163075 ASZ1 Nonsynonymous SNV A2T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 175928 chr6 154754634 154754634 A G CNKSR3 Nonsynonymous SNV F178S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.5 175929 chr7 130418300 130418300 A G KLF14 Synonymous SNV S187S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.017 175930 chr7 133886254 133886254 A G LRGUK Nonsynonymous SNV Q590R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.826 175931 chr5 53839080 53839080 G A rs150515811 SNX18 Nonsynonymous SNV G565S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 175932 chr7 138713674 138713674 C G rs7800990 ZC3HAV1L Synonymous SNV L178L 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 11.69 175933 chr7 138758679 138758679 C T rs140829327 ZC3HAV1 Nonsynonymous SNV A721T 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.982 175934 chr2 55777086 55777088 TTC - PPP4R3B E753del 0 0 0 1 0 0 0.003 0 0 0 0 0 175935 chr7 139661964 139661964 C G rs4529 TBXAS1 Nonsynonymous SNV L295V 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign 24 175936 chr7 139799821 139799821 G A KDM7A Synonymous SNV D547D 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 11.38 175937 chr3 194063390 194063390 G C rs140187491 CPN2 Synonymous SNV L14L 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 0.318 175938 chr1 3679934 3679934 C G CCDC27 Nonsynonymous SNV S406W 0 0 0 4 0 0 0.01 0 0 0 0 0 24.2 175939 chr7 140373330 140373330 G A rs147151212 ADCK2 Nonsynonymous SNV R67Q 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 2.906 175940 chr7 100959764 100959764 T A rs139909765 IFT22 Nonsynonymous SNV N12I 0 0.005 0 0 0 2 0 0 0 0 0 0 29.5 175941 chr7 102113040 102113040 G A rs189692940 LRWD1 Synonymous SNV S406S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.238 175942 chr6 35705894 35705894 C A rs150383656 ARMC12 Nonsynonymous SNV A85D 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 16.72 175943 chr3 196743183 196743183 G C rs752567799 MELTF Nonsynonymous SNV Q320E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 175944 chr7 143047693 143047693 C T rs146653916 CLCN1 Synonymous SNV H847H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.8 175945 chr6 24178659 24178659 C T rs775174265 DCDC2 Nonsynonymous SNV D409N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 175946 chr1 10720339 10720339 A C rs147188438 CASZ1 Nonsynonymous SNV W254G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 175947 chr2 74273638 74273638 C T rs372717232 TET3 Synonymous SNV H105H 0 0 0 2 0 0 0.005 0 0 0 0 0 9.124 175948 chr7 148708981 148708981 A G rs142943511 PDIA4 Synonymous SNV F312F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.739 175949 chr6 42073470 42073470 G A rs569931106 C6orf132 Nonsynonymous SNV T727I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 175950 chr7 150728338 150728338 C T rs777242212 ABCB8 Nonsynonymous SNV R36C 0 0.005 0 0 0 2 0 0 0 0 0 0 2.983 175951 chr6 3152800 3152800 C T rs144181679 BPHL Synonymous SNV F289F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.42 175952 chr1 15370589 15370589 G A rs146334402 KAZN Synonymous SNV T126T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.85 175953 chr7 150747614 150747614 G A ASIC3 Synonymous SNV Q244Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.47 175954 chr7 150754048 150754048 G A rs760579593 CDK5 Synonymous SNV S47S 0 0.005 0 0 0 2 0 0 0 0 0 0 5.406 175955 chr1 15546071 15546071 G A rs762546819 TMEM51 Synonymous SNV L198L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.3 175956 chr7 150835388 150835388 A G rs758585736 AGAP3 Nonsynonymous SNV M552V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.181 175957 chr6 46656376 46656376 C T rs147470205 TDRD6 Synonymous SNV L171L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.721 175958 chr6 46657337 46657337 C T rs144889394 TDRD6 Nonsynonymous SNV A491V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 175959 chr7 129944338 129944345 CATTGCCG - rs772705700 CPA4 I103Rfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 175960 chr3 42916596 42916596 T C rs35764459 CYP8B1 Nonsynonymous SNV K238R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 6.923 175961 chr6 52141164 52141164 T A MCM3 Nonsynonymous SNV M380L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 175962 chr7 21920468 21920468 T G rs371418299 DNAH11 Nonsynonymous SNV I4115S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 25.8 175963 chr7 25175632 25175632 G A rs935072275 C7orf31 Nonsynonymous SNV H578Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 23.8 175964 chr7 105283387 105283387 G A ATXN7L1 Nonsynonymous SNV P130S 0 0.003 0 0 0 1 0 0 0 0 0 0 27 175965 chr7 27195801 27195801 A T rs755689640 HOXA7 Nonsynonymous SNV W122R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.4 175966 chr3 48463527 48463527 C T rs140699424 PLXNB1 Nonsynonymous SNV V503M 0.003 0 0 0 3 0 0 0 0 0 0 0 34 175967 chr6 7899882 7899882 - C rs998936087 TXNDC5 Frameshift insertion V41Gfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 175968 chr7 149486702 149486702 C T SSPO 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.25 175969 chr3 49693154 49693154 G A rs145865812 BSN Synonymous SNV P2055P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.311 175970 chr7 149519171 149519171 G T SSPO 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.558 175971 chr7 33397551 33397551 A G BBS9 Nonsynonymous SNV H389R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 175972 chr3 50378090 50378090 G A rs373116746 RASSF1 Synonymous SNV G49G 0.003 0.013 0.003 0 3 5 0 1 0 0 0 0 11.84 175973 chr7 100228655 100228655 G T rs41303495 TFR2 Nonsynonymous SNV A205D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 175974 chr3 51399347 51399347 G A rs146000863 DOCK3 Synonymous SNV A1688A 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 16.73 175975 chr3 51672170 51672170 A G rs146938598 RAD54L2 Nonsynonymous SNV T565A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.37 175976 chr7 100463658 100463658 G T SLC12A9 Nonsynonymous SNV V583L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 175977 chr7 100486858 100486858 C T rs372681909 UFSP1 Nonsynonymous SNV R12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22 175978 chr7 41729934 41729934 C A rs146325702 INHBA Nonsynonymous SNV G199W 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 33 175979 chr1 28208669 28208669 G A rs368929601 THEMIS2 Synonymous SNV P278P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.286 175980 chr7 150884755 150884755 G A rs104886462 ASB10 Nonsynonymous SNV P19S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 not provided 6.047 175981 chr7 151859362 151859362 G A KMT2C Nonsynonymous SNV A3767V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.39 175982 chr7 1525058 1525060 CTC - rs552723932 INTS1 E1008del 0.004 0.005 0 0 5 2 0 0 0 0 0 0 175983 chr3 52864614 52864614 G A rs147068040 ITIH4 Synonymous SNV V15V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.752 175984 chr6 64694457 64694457 T G rs906094515 EYS Nonsynonymous SNV N2292H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 1.463 175985 chr7 100550873 100550873 G A rs74836112 MUC3A Nonsynonymous SNV R485H 0 0 0.014 2 0 0 0.005 4 0 0 1 1 6.735 175986 chr7 47933529 47933529 A G rs148011149 PKD1L1 Nonsynonymous SNV I800T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 175987 chr6 73043369 73043369 C T rs201885523 RIMS1 Synonymous SNV T635T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Likely benign 12.77 175988 chr3 63982026 63982026 C G rs376606208 ATXN7 Nonsynonymous SNV S698W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 27.4 175989 chr3 65422855 65422855 C T rs1019536158 MAGI1 Synonymous SNV E446E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.37 175990 chr7 22206691 22206691 C T rs202018728 RAPGEF5 Nonsynonymous SNV R124K 0 0.005 0 0 0 2 0 0 0 0 0 0 21.4 175991 chr7 26396726 26396726 G A rs779269126 SNX10 Synonymous SNV A27A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.33 175992 chr3 130188325 130188325 C T rs199742927 COL6A5 Nonsynonymous SNV R2493C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 175993 chr7 101892229 101892229 C A rs149171097 CUX1 Synonymous SNV P1486P 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 12.56 175994 chr7 5540409 5540409 G A rs371160878 FBXL18 Synonymous SNV S497S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 175995 chr3 9793628 9793628 T C OGG1 Nonsynonymous SNV L187P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.4 175996 chr7 56146150 56146150 G T rs202049436 SUMF2 Stop gain G41X 0 0.003 0 0 0 1 0 0 0 0 0 0 16.53 175997 chr7 29111449 29111449 C T rs200288084 CPVL Synonymous SNV Q268Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 175998 chr7 64389053 64389053 G A rs374902884 ZNF273 Synonymous SNV K449K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.05 175999 chr7 64863548 64863548 A G rs772731975 ZNF92 Nonsynonymous SNV K98R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 176000 chr1 45252268 45252268 G A BEST4 Synonymous SNV G116G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.91 176001 chr7 32091175 32091175 G A PDE1C Nonsynonymous SNV T40M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 176002 chr7 72850025 72850025 G A FZD9 Nonsynonymous SNV R563H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.7 176003 chr7 38516476 38516476 T C rs764670438 AMPH Nonsynonymous SNV S164G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.984 176004 chr7 75610407 75610407 C T rs782524389 POR Synonymous SNV A186A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.02 176005 chr1 51829641 51829641 A G rs541058917 EPS15 Synonymous SNV I438I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.171 176006 chr7 4201450 4201450 A G rs146662127 SDK1 Nonsynonymous SNV T75A 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 20.6 176007 chr7 128446787 128446787 G A rs61746779 CCDC136 Nonsynonymous SNV V432I 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 0.021 176008 chr7 128766951 128766951 C T rs114326468 LOC407835 0 0 0.003 0 0 0 0 1 0 0 0 0 7.862 176009 chr7 128766975 128766975 C A rs114883292 LOC407835 0 0 0.003 0 0 0 0 1 0 0 0 0 9.073 176010 chr7 22396635 22396635 C T rs551903959 RAPGEF5 Synonymous SNV E15E 0 0.003 0 0 0 1 0 0 0 0 0 0 18.24 176011 chr7 94039061 94039061 C G COL1A2 Synonymous SNV P321P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.763 176012 chr7 98556990 98556990 G A rs781376822 TRRAP Synonymous SNV A2097A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.52 176013 chr7 4841302 4841302 G A rs200934454 RADIL Nonsynonymous SNV R942W 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.9 176014 chr7 140125839 140125839 G T rs4726807 RAB19 Synonymous SNV A181A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 176015 chr7 14027754 14027754 C T rs368608395 ETV1 Synonymous SNV R30R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.719 176016 chr7 141635626 141635626 C T rs200671062 CLEC5A Synonymous SNV T88T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 176017 chr1 74936984 74936984 T C rs77657462 LRRC53 Synonymous SNV S774S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.63 176018 chr1 74941266 74941266 A T rs45557838 LRRC53 Nonsynonymous SNV L378H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.4 176019 chr7 149502592 149502592 G A rs111879522 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 176020 chr7 149522951 149522951 C T rs200469643 SSPO 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 19.3 176021 chr7 6449560 6449560 T C rs138127497 DAGLB Nonsynonymous SNV I514V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 176022 chr7 64853760 64853760 C A ZNF92 Nonsynonymous SNV Q58K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 176023 chr8 113585854 113585854 T C rs768869426 CSMD3 Synonymous SNV L1176L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.434 176024 chr7 105660972 105660972 C T rs144905888 CDHR3 Nonsynonymous SNV R515C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 33 176025 chr1 87599368 87599368 G A rs776828576 LINC01140 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 176026 chr7 150839264 150839264 C T rs372049053 AGAP3 Synonymous SNV N327N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 176027 chr7 44715628 44715628 C T rs374216035 OGDH Synonymous SNV T362T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.75 176028 chr7 77379032 77379032 G A rs772671256 RSBN1L Nonsynonymous SNV R332Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 176029 chr6 119522462 119522462 A T MAN1A1 Synonymous SNV L389L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.425 176030 chr1 92446645 92446645 A G rs368253715 BRDT Nonsynonymous SNV I508V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.69 176031 chr8 125989361 125989361 G C rs138227822 ZNF572 Nonsynonymous SNV S284T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 176032 chr4 170017789 170017789 G T SH3RF1 Nonsynonymous SNV L850I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 176033 chr7 20682900 20682900 C T rs374303845 ABCB5 Synonymous SNV T136T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.297 176034 chr6 130154706 130154706 G A rs146090235 TMEM244 Nonsynonymous SNV T73I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 176035 chr7 89897629 89897629 T C rs372422328 CFAP69 Synonymous SNV L155L 0 0.005 0 0 0 2 0 0 0 0 0 0 8.492 176036 chr8 135649838 135649838 G A rs146684203 ZFAT Nonsynonymous SNV P93L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.889 176037 chr7 299848 299848 G A rs754889644 FAM20C Nonsynonymous SNV V553M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 176038 chr7 134719601 134719601 G A rs189905445 AGBL3 Nonsynonymous SNV R420Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 176039 chr7 30951831 30951831 G A rs762474222 AQP1 Nonsynonymous SNV V103M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 176040 chr8 144550605 144550605 A T ZC3H3 Synonymous SNV R684R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 176041 chr3 32022474 32022474 G A rs372123385 OSBPL10 Synonymous SNV S66S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.88 176042 chr8 101083647 101083647 C T RGS22 Nonsynonymous SNV E182K 0.003 0.013 0 0 3 5 0 0 0 0 0 0 25.7 176043 chr7 73480301 73480301 G A rs139547471 ELN Nonsynonymous SNV G606E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.4 176044 chr7 139796841 139796841 T C KDM7A Nonsynonymous SNV I675V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.384 176045 chr7 47333332 47333332 G A rs75253453 TNS3 Synonymous SNV F1257F 0 0 0.007 0 0 0 0 2 0 0 0 0 0.039 176046 chr8 110530548 110530548 A G PKHD1L1 Nonsynonymous SNV T3948A 0 0.008 0 0 0 3 0 0 0 0 0 0 20.6 176047 chr7 88965667 88965667 A G ZNF804B Nonsynonymous SNV K1124R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.34 176048 chr7 5780794 5780794 G A rs141050143 RNF216 Nonsynonymous SNV S285L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 176049 chr7 591096 591096 G A rs78260651 PRKAR1B Synonymous SNV S301S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.73 176050 chr8 125487483 125487483 A G rs1030087140 RNF139 Nonsynonymous SNV S45G 0.002 0.01 0 0 2 4 0 0 0 0 0 0 2.698 176051 chr1 152671612 152671612 C T rs367931031 LCE2A Nonsynonymous SNV R79W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.85 176052 chr7 65546860 65546860 T C ASL Nonsynonymous SNV I28T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 176053 chr7 70255576 70255576 - CCACCA rs538005366 AUTS2 H1109_P1110insHH 0 0 0.003 0 0 0 0 1 0 0 0 0 176054 chr8 2037956 2037956 G T rs768861985 MYOM2 Synonymous SNV R590R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.124 176055 chr1 154999134 154999134 C T rs200424533 DCST2 Nonsynonymous SNV R467H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.3 176056 chr8 1833804 1833804 C T rs34655804 ARHGEF10 Synonymous SNV F333F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.397 176057 chr7 7612391 7612391 T A MIOS Nonsynonymous SNV D95E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 176058 chr6 8413930 8413930 T C SLC35B3 Nonsynonymous SNV Y290C 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 28.2 176059 chr8 1905048 1905048 C A rs139515492 ARHGEF10 Nonsynonymous SNV D1180E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.828 176060 chr1 156593709 156593709 T C HAPLN2 Nonsynonymous SNV Y66H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 176061 chr7 91763586 91763586 G A rs146964281 CYP51A1 Synonymous SNV N31N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.007 176062 chr7 92027936 92027936 C A rs202131975 ANKIB1 Nonsynonymous SNV N981K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 176063 chr7 98630653 98630653 T C rs188285028 LOC101927550 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 3.492 176064 chr8 30702218 30702218 T C rs323343 TEX15 Nonsynonymous SNV K1822R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.146 176065 chr8 103250790 103250790 G C rs550765773 RRM2B Synonymous SNV A87A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.218 176066 chr8 10524538 10524538 - G MIR4286 0 0 0.003 0 0 0 0 1 0 0 0 0 176067 chr8 10557760 10557760 A G rs57041981 C8orf74 Nonsynonymous SNV I222V 0.01 0 0.017 1 12 0 0.003 5 0 0 0 0 0.001 176068 chr1 159803114 159803114 A G rs114443420 SLAMF8 Nonsynonymous SNV M137V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.352 176069 chr8 3226864 3226864 C G rs115021133 CSMD1 Nonsynonymous SNV K937N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.8 176070 chr1 160141163 160141163 C A ATP1A4 Nonsynonymous SNV N538K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.39 176071 chr8 11687883 11687883 C G FDFT1 Nonsynonymous SNV S111W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 176072 chr8 119936978 119936978 C T rs140782326 TNFRSF11B Nonsynonymous SNV V281M 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 26.8 176073 chr8 124195104 124195104 G A rs539364167 FAM83A Nonsynonymous SNV R3Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21 176074 chr8 124373798 124373798 G A rs555718366 ATAD2 Nonsynonymous SNV R380C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 176075 chr8 142146690 142146690 G A DENND3 Nonsynonymous SNV S62N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.01 176076 chr1 164529068 164529068 G C rs375925928 PBX1 Nonsynonymous SNV E3D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.893 176077 chr7 44578845 44578845 G A rs201432207 NPC1L1 Nonsynonymous SNV S384L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 176078 chr8 68028261 68028261 C A rs974893054 CSPP1 Nonsynonymous SNV S168Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 176079 chr8 143784764 143784764 T C rs782712447 LY6K Nonsynonymous SNV I158T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.331 176080 chr8 19250940 19250940 C T rs116257653 SH2D4A Nonsynonymous SNV S342L 0 0.008 0 2 0 3 0.005 0 0 0 0 0 15.62 176081 chr8 133900554 133900554 G A rs138731686 TG Synonymous SNV P834P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.16 176082 chr8 144411548 144411548 C T rs147714048 TOP1MT Nonsynonymous SNV R13Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.445 176083 chr8 20069639 20069639 C T rs17092160 ATP6V1B2 Synonymous SNV F244F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.62 176084 chr8 135614795 135614795 G A rs563780394 ZFAT Synonymous SNV D327D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.644 176085 chr8 22429261 22429261 C T SORBS3 Nonsynonymous SNV H250Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 16.62 176086 chr8 8560286 8560286 C T CLDN23 Synonymous SNV L126L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 11.76 176087 chr8 144790202 144790202 C A CCDC166 Synonymous SNV P26P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.21 176088 chr8 8749957 8749957 C T rs755606448 MFHAS1 Synonymous SNV V204V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.288 176089 chr8 144991167 144991167 A G PLEC Synonymous SNV T4260T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 176090 chr7 111430652 111430652 T C rs199775424 DOCK4 Nonsynonymous SNV K1059R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.5 176091 chr8 95746846 95746857 ATACTTTTTCAG - rs759099060 DPY19L4 0 0.003 0 0 0 1 0 0 0 0 0 0 176092 chr8 25193830 25193830 G A rs770254542 DOCK5 Synonymous SNV A756A 0 0.008 0 0 0 3 0 0 0 0 0 0 13.08 176093 chr8 145009232 145009232 G A rs372233686 PLEC Synonymous SNV L244L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.43 176094 chr8 145065719 145065719 C A rs782708683 GRINA Nonsynonymous SNV P110T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.64 176095 chr8 27764729 27764729 G A rs556444276 SCARA5 Synonymous SNV P344P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.914 176096 chr8 145537891 145537891 G C rs782227489 HSF1 Nonsynonymous SNV E496D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.23 176097 chr1 186114591 186114591 G A rs147296385 HMCN1 Nonsynonymous SNV G4775R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 34 176098 chr8 145580184 145580184 C T rs782467045 FBXL6 Nonsynonymous SNV R334Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 176099 chr8 32617897 32617897 C T rs756689549 NRG1 Nonsynonymous SNV S260F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 32 176100 chr9 109690269 109690269 C T ZNF462 Nonsynonymous SNV S1359F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 176101 chr1 200534364 200534364 C T KIF14 Nonsynonymous SNV A811T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 176102 chr1 201038610 201038610 A G rs61238538 CACNA1S Nonsynonymous SNV M827T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.022 176103 chr8 145579801 145579801 A G rs149983087 FBXL6 Synonymous SNV F433F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 176104 chr8 43053062 43053062 G C rs148632988 HGSNAT Nonsynonymous SNV G501R 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 Conflicting interpretations of pathogenicity 13.98 176105 chr1 201180972 201180972 G T IGFN1 Nonsynonymous SNV W2317C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.38 176106 chr7 7917080 7917080 G A UMAD1 Nonsynonymous SNV D109N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 176107 chr8 146066819 146066819 C G rs138881141 ZNF7 Synonymous SNV V13V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.653 176108 chr7 133848243 133848243 G T rs79217401 LRGUK Nonsynonymous SNV G297V 0.008 0.01 0.01 2 9 4 0.005 3 0 0 0 0 29.3 176109 chr8 16026259 16026259 A G rs117359034 MSR1 Nonsynonymous SNV V131A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 1.396 176110 chr4 140811064 140811093 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC - MAML3 Q501_Q510del 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 176111 chr8 17815082 17815082 T G rs181777656 PCM1 Nonsynonymous SNV I613S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.87 176112 chr1 203816436 203816436 T C rs563967040 ZC3H11A Synonymous SNV D389D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.08 176113 chr4 146744673 146744673 A C ZNF827 Nonsynonymous SNV F762V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 176114 chr1 205028265 205028265 G A rs754696472 CNTN2 Nonsynonymous SNV G181R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.3 176115 chr7 94167089 94167089 G T CASD1 Nonsynonymous SNV M109I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.9 176116 chr1 205272612 205272612 C T rs141288763 NUAK2 Nonsynonymous SNV R618Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.31 176117 chr8 8233941 8233941 G T rs56351643 PRAG1 Nonsynonymous SNV P660T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 176118 chr8 86038980 86038980 C T rs576152903 LRRCC1 Synonymous SNV A64A 0.001 0.013 0 0 1 5 0 0 0 0 0 0 20.9 176119 chr8 86242023 86242023 T C rs371998777 CA1 Synonymous SNV S75S 0 0.005 0 0 0 2 0 0 0 0 0 0 11.93 176120 chr9 123234031 123234031 C T rs199622080 CDK5RAP2 Nonsynonymous SNV R618Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 27.1 176121 chr8 8750113 8750113 G A rs61740135 MFHAS1 Synonymous SNV A152A 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 1.153 176122 chr9 124751493 124751493 G A rs371000313 TTLL11 Nonsynonymous SNV P507L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 176123 chr9 124535077 124535077 T A rs200073956 DAB2IP Nonsynonymous SNV L633Q 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 18.14 176124 chr8 8998928 8998928 C T PPP1R3B Synonymous SNV V78V 0 0.005 0 0 0 2 0 0 0 0 0 0 14.19 176125 chr8 96037321 96037321 C G NDUFAF6 Nonsynonymous SNV L29V 0.001 0.01 0 0 1 4 0 0 0 0 0 0 5.552 176126 chr8 27294716 27294716 C T rs778599753 PTK2B Synonymous SNV S473S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 176127 chr5 140867135 140867135 C G rs752378906 PCDHGC4 Nonsynonymous SNV P799A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.307 176128 chr1 220180603 220180603 C T EPRS1 Synonymous SNV S561S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.11 176129 chr8 39442160 39442160 C T rs149717316 ADAM18 Nonsynonymous SNV L7F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.92 176130 chr8 39442166 39442166 A G ADAM18 Nonsynonymous SNV T9A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 176131 chr8 42234551 42234551 C T rs144528734 DKK4 Nonsynonymous SNV V5I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.329 176132 chr8 52321935 52321935 G A PXDNL Nonsynonymous SNV A750V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.459 176133 chr1 225268373 225268373 C A rs916787521 DNAH14 Nonsynonymous SNV S1020Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.3 176134 chr9 113275241 113275241 T C rs147924644 SVEP1 Nonsynonymous SNV N423S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 176135 chr8 68346343 68346343 T C CPA6 Nonsynonymous SNV H324R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 176136 chr8 68956777 68956777 C T rs771902674 PREX2 Nonsynonymous SNV R299W 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 176137 chr7 21631070 21631070 G A rs80328282 DNAH11 Nonsynonymous SNV V848M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 2.144 176138 chr9 135176137 135176137 A C SETX Nonsynonymous SNV L1810V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.3 176139 chr9 135202961 135202961 G A SETX Nonsynonymous SNV L1342F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 176140 chr8 87241841 87241841 T C SLC7A13 Synonymous SNV A222A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.103 176141 chr8 90983490 90983490 T C rs730881845 NBN Nonsynonymous SNV I205V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.9 176142 chr9 136412297 136412297 G A rs752724301 ADAMTSL2 Nonsynonymous SNV V301M 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 176143 chr8 99040005 99040005 C T rs377164086 MATN2 Synonymous SNV D727D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.56 176144 chr4 3076624 3076624 - CAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 176145 chr9 111663930 111663930 C T rs148378319 ELP1 Nonsynonymous SNV R280H 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 176146 chr8 144378818 144378818 C A rs774563637 ZNF696 Nonsynonymous SNV H325N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.83 176147 chr9 105765528 105765528 C T rs151008463 CYLC2 Nonsynonymous SNV R55W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 176148 chr9 115920037 115920037 C T rs199500515 SLC31A2 Nonsynonymous SNV L13F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 176149 chr9 107289179 107289179 C A rs746186160 OR13C4 Synonymous SNV G104G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 176150 chr1 247319892 247319892 C T rs750945749 ZNF124 Synonymous SNV K344K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 176151 chr1 247319895 247319895 T C rs780538149 ZNF124 Synonymous SNV E343E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.532 176152 chr7 45120525 45120525 G A rs752883656 NACAD Nonsynonymous SNV P1501S 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 14.66 176153 chr9 131475781 131475781 C T rs760414400 PKN3 Nonsynonymous SNV R366C 0 0.008 0 1 0 3 0.003 0 0 1 0 0 34 176154 chr9 131559470 131559470 C T rs372111532 TBC1D13 Nonsynonymous SNV R174W 0 0.008 0 1 0 3 0.003 0 0 1 0 0 34 176155 chr9 13250302 13250302 T C rs200455569 MPDZ Nonsynonymous SNV I5V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 3.628 176156 chr4 5800493 5800493 C T rs200479973 EVC Nonsynonymous SNV R760W 0 0 0 4 0 0 0.01 0 0 0 0 0 Uncertain significance 32 176157 chr9 117063983 117063983 C A rs139690392 COL27A1 Synonymous SNV R1611R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 20.5 176158 chr9 21968727 21968727 C G CDKN2A Synonymous SNV A167A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 12.88 176159 chr9 135176030 135176030 G A rs200433173 SETX Synonymous SNV R1845R 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 12.4 176160 chr9 135796753 135796753 C T rs755859330 TSC1 Nonsynonymous SNV R194Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.1 176161 chr9 119097285 119097285 C T rs746235699 PAPPA Synonymous SNV F1181F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.58 176162 chr9 131072034 131072034 G A rs202074181 TRUB2 Nonsynonymous SNV T220M 0 0 0.007 0 0 0 0 2 0 0 0 0 17.87 176163 chr9 36080620 36080620 A G rs770444578 RECK Nonsynonymous SNV I142V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.35 176164 chr9 131285910 131285914 GTGAA - GLE1 V228Afs*37 0.003 0 0.003 0 3 0 0 1 0 0 0 0 176165 chr9 136501756 136501756 G C rs3025380 DBH Nonsynonymous SNV G88A 0.006 0.01 0.003 3 7 4 0.008 1 0 1 0 0 Likely benign 24.4 176166 chr8 17941550 17941550 G A ASAH1 Synonymous SNV C6C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 176167 chr9 13247650 13247650 T C rs769533763 MPDZ Nonsynonymous SNV Q56R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 176168 chr8 1882094 1882094 A G rs764224133 ARHGEF10 Nonsynonymous SNV T1032A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.62 176169 chr9 133506125 133506125 G C FUBP3 Nonsynonymous SNV V410L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 176170 chr5 484636 484636 C T rs201704801 SLC9A3 Nonsynonymous SNV A311T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 176171 chr9 139368537 139368537 G A SEC16A Synonymous SNV Y1177Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.945 176172 chr9 5920649 5920649 G A rs77442027 KIAA2026 Nonsynonymous SNV R1783W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.4 176173 chr9 134361054 134361054 T C rs118051327 SNORD62A, SNORD62B 0 0 0.058 0 0 0 0 17 0 0 1 0 8.702 176174 chr9 139873577 139873577 T G rs199535360 PTGDS Nonsynonymous SNV F83V 0 0.005 0 0 0 2 0 0 0 0 0 0 26.9 176175 chr9 130167842 130167842 A C SLC2A8 Nonsynonymous SNV M269L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 176176 chr9 79267561 79267561 G A rs201365052 PRUNE2 Nonsynonymous SNV R63W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 176177 chr9 130828905 130828905 G A NAIF1 Nonsynonymous SNV A159V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.82 176178 chr7 151836844 151836844 C G KMT2C Nonsynonymous SNV E4792D 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 176179 chr9 8331681 8331681 C T rs373755531 PTPRD Nonsynonymous SNV G1405E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 176180 chr9 137741154 137741177 ATATCACACCTCCCAGGAACCACG - rs750229612 MIR3689C 0 0 0.024 0 0 0 0 7 0 0 3 0 176181 chr7 92763782 92763782 T C rs75446743 SAMD9L Synonymous SNV R501R 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 Benign 0.004 176182 chr9 94486127 94486127 C T rs373037095 ROR2 Nonsynonymous SNV M883I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.216 176183 chr9 96009982 96009982 C T rs559770581 WNK2 Nonsynonymous SNV P567L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.72 176184 chr9 139698977 139698977 G A rs11145892 CCDC183 Synonymous SNV A230A 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 15.37 176185 chr9 139754427 139754427 C T rs138623341 MAMDC4 Nonsynonymous SNV R1095W 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 12.55 176186 chr9 135521378 135521378 G C rs141002758 DDX31 Synonymous SNV T533T 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 10.19 176187 chr9 140374814 140374814 C T rs780922506 PNPLA7 Nonsynonymous SNV D819N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 176188 chr9 34379137 34379137 T C C9orf24 Synonymous SNV R91R 0 0.005 0 0 0 2 0 0 0 0 0 0 21.3 176189 chr5 114462229 114462229 T C TRIM36 Nonsynonymous SNV K565E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 176190 chr9 19116463 19116463 A T PLIN2 Nonsynonymous SNV V366E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 176191 chr8 66619294 66619294 T A rs770198080 MTFR1 Synonymous SNV P156P 0.005 0 0 0 6 0 0 0 0 0 0 0 0.132 176192 chrX 11682667 11682667 C A rs753107939 ARHGAP6 Synonymous SNV P94P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.69 176193 chr2 46587816 46587816 A C rs777049674 EPAS1 Nonsynonymous SNV E165A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 176194 chr9 26842506 26842506 G A rs10967558 CAAP1 Synonymous SNV D148D 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 7.379 176195 chr9 139564130 139564130 C T rs753178651 EGFL7 Synonymous SNV P90P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.28 176196 chr9 26861106 26861106 C T rs12342214 CAAP1 Nonsynonymous SNV V88M 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 22.8 176197 chr9 26923258 26923258 G A rs112768524 PLAA Synonymous SNV H319H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 8.628 176198 chr2 54014374 54014374 G A rs370420802 ERLEC1 Synonymous SNV R9R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.456 176199 chrX 133700398 133700398 C T rs150933455 PLAC1 Synonymous SNV T105T 0.002 0.003 0 3 2 1 0.008 0 1 0 0 1 Benign 10.24 176200 chr9 71152343 71152343 C G rs117451470 TMEM252 Nonsynonymous SNV E115D 0.003 0.013 0.01 0 3 5 0 3 0 0 0 0 3.002 176201 chr5 131593438 131593438 C T rs772364788 PDLIM4 Nonsynonymous SNV S4F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 176202 chr9 16436952 16436952 G C rs148873573 BNC2 Nonsynonymous SNV L372V 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 0.002 176203 chr9 69002278 69002278 G A rs549601365 MIR1299 0 0 0.007 0 0 0 0 2 0 0 0 0 4.271 176204 chr8 99779588 99779588 C A STK3 Nonsynonymous SNV S40I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 176205 chr9 78506181 78506181 C A rs34813806 PCSK5 Synonymous SNV P28P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 22.1 176206 chr2 74274286 74274286 C T rs762359864 TET3 Synonymous SNV H321H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 176207 chr9 94486863 94486863 C T rs765278167 ROR2 Nonsynonymous SNV R638Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 176208 chr9 79326200 79326200 G A rs760960956 PRUNE2 Synonymous SNV I330I 0 0 0.007 0 0 0 0 2 0 0 0 0 6.86 176209 chr9 79792749 79792749 G C rs751821682 VPS13A-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.328 176210 chr9 8521421 8521421 C T rs769639520 PTPRD Nonsynonymous SNV A263T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 176211 chr9 33443846 33443846 G A AQP3 Synonymous SNV G51G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.032 176212 chr9 95179577 95179577 A G rs199788454 OMD Synonymous SNV N88N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.021 176213 chrX 36018434 36018434 G A rs5972010 CFAP47 Nonsynonymous SNV G1071D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.876 176214 chr9 99417386 99417386 C T rs760137490 PRXL2C Nonsynonymous SNV V60M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 176215 chrX 37700357 37700357 C G rs78918057 DYNLT3 Synonymous SNV V66V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 176216 chrX 40483169 40483169 C T rs186590162 MPC1L Nonsynonymous SNV P118S 0.003 0.003 0 0 4 1 0 0 1 0 0 0 5.347 176217 chrX 40594570 40594570 G A rs778571031 MED14 Nonsynonymous SNV P32L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 176218 chr1 898873 898873 C T rs375596188 KLHL17 Synonymous SNV S448S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.78 176219 chr9 96209898 96209898 T C rs370217191 FAM120AOS Nonsynonymous SNV I74V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 176220 chr9 96398741 96398741 A T rs374905218 PHF2 Nonsynonymous SNV D78V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 176221 chr9 37516040 37516040 C T rs376671407 FBXO10 Nonsynonymous SNV A853T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 176222 chr9 37974737 37974737 C T rs371669170 SHB Synonymous SNV S312S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 176223 chrUn_gl000220 124796 124796 C T LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 176224 chrX 109924744 109924744 A C rs781766118 CHRDL1 Synonymous SNV P294P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.431 176225 chrX 114141447 114141447 A C rs781931599 HTR2C Nonsynonymous SNV Q282H 0.001 0.01 0 0 1 4 0 0 0 0 0 0 0.503 176226 chrX 117764409 117764409 G A rs774145428 DOCK11 Nonsynonymous SNV S1281N 0.001 0.01 0 0 1 4 0 0 0 0 0 0 16.02 176227 chr1 1309553 1309553 C T rs748379016 AURKAIP1 Nonsynonymous SNV G109R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.435 176228 chr9 6588403 6588403 C T rs151268759 GLDC Nonsynonymous SNV A569T 0.003 0.008 0.007 1 4 3 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.97 176229 chrX 122336606 122336606 C T rs780803641 GRIA3 Synonymous SNV P129P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.84 176230 chr9 71555645 71555645 T A PIP5K1B Nonsynonymous SNV S481T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 176231 chr1 1850680 1850680 G C TMEM52 Nonsynonymous SNV R9G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.624 176232 chrX 12739264 12739264 G T rs61739515 FRMPD4 Nonsynonymous SNV V1528F 0 0 0.027 0 0 0 0 8 0 0 2 0 0.005 176233 chrX 134426329 134426329 C T ZNF75D Stop gain W161X 0 0 0.007 0 0 0 0 2 0 0 1 0 36 176234 chrX 132730541 132730541 A G rs2314298 GPC3 Synonymous SNV D446D 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Benign 0.372 176235 chrX 140969411 140969411 C T rs147018385 MAGEC3 Synonymous SNV P246P 0.003 0.003 0.014 1 3 1 0.003 4 1 0 2 0 10.11 176236 chrX 135428968 135428968 G A rs149243520 ADGRG4 Nonsynonymous SNV E1035K 0.002 0.003 0 1 2 1 0.003 0 1 0 0 0 14.79 176237 chr6 136560939 136560939 G A rs375149441 MTFR2 Synonymous SNV D178D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 4.854 176238 chrX 140994591 140994591 - TTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAG MAGEC1 Stop gain S468Ffs*2 0.001 0.01 0 5 1 4 0.013 0 0 1 0 2 176239 chrX 148797572 148797572 A C MAGEA11 Nonsynonymous SNV Q113H 0.002 0.003 0 0 2 1 0 0 1 0 0 0 0.01 176240 chr9 125330358 125330358 A G rs766046024 OR1L8 Synonymous SNV Y133Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.082 176241 chrX 154065961 154065961 G A rs137852473 F8 Nonsynonymous SNV R188C 0 0 0.007 0 0 0 0 2 0 0 1 0 Pathogenic 25.5 176242 chr10 103826484 103826484 G T rs201468546 HPS6 Nonsynonymous SNV G418V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 26.2 176243 chr10 103901680 103901680 C A rs371010227 PPRC1 Nonsynonymous SNV R1139S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 176244 chrX 18671622 18671622 G A rs910286513 CDKL5 Synonymous SNV A1017A 0 0 0.007 0 0 0 0 2 0 0 1 0 5.51 176245 chrX 152158818 152158818 T C rs150433338 PNMA5 Nonsynonymous SNV H442R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.55 176246 chr9 94486422 94486422 C T rs368059807 ROR2 Nonsynonymous SNV R785H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 176247 chr7 93536117 93536117 A C rs751213457 GNGT1 Nonsynonymous SNV D20A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.59 176248 chr1 9656044 9656044 C T rs576679988 TMEM201 Synonymous SNV C70C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.68 176249 chrX 154057809 154057809 C T rs782225641 SMIM9 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 176250 chrX 48463378 48463378 C T rs782584055 WDR13 Synonymous SNV D380D 0 0 0.007 0 0 0 0 2 0 0 1 0 17.3 176251 chrX 48924808 48924808 C T rs373591820 CCDC120 Synonymous SNV F386F 0 0 0.007 0 0 0 0 2 0 0 1 0 12.3 176252 chrX 15826386 15826386 G A rs769746691 ZRSR2 Nonsynonymous SNV E144K 0 0.005 0 0 0 2 0 0 0 0 0 0 27.6 176253 chrX 18194097 18194097 T C rs146962245 BEND2 Nonsynonymous SNV T492A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 176254 chrX 2773044 2773044 A G rs767952548 GYG2 Nonsynonymous SNV N112S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 176255 chr1 11827281 11827281 A G rs752622361 C1orf167 Nonsynonymous SNV K435E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.389 176256 chr2 152236047 152236047 A - TNFAIP6 X278X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 176257 chrX 74961374 74961374 T C rs774598762 TTC3P1 0 0 0.01 0 0 0 0 3 0 0 1 0 1.687 176258 chr10 100017794 100017794 C T rs749714530 LOXL4 Nonsynonymous SNV R350H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 176259 chrX 39922087 39922087 A C BCOR Nonsynonymous SNV L1310R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 176260 chr10 116222869 116222869 C A rs574961882 ABLIM1 Nonsynonymous SNV S183I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 176261 chr1 15438836 15438841 TGTGTG - TMEM51-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 176262 chrX 47836944 47836944 T C rs373869102 ZNF182 Nonsynonymous SNV N162S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.003 176263 chr10 102822543 102822543 G C rs773408522 KAZALD1 Nonsynonymous SNV R65P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 176264 chr10 102822560 102822560 A T rs61731071 KAZALD1 Nonsynonymous SNV R71W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.8 176265 chr10 103920255 103920255 T A rs145855726 NOLC1 Synonymous SNV G392G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.329 176266 chr10 104486489 104486489 C T rs35153373 SFXN2 Synonymous SNV D32D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.82 176267 chrX 53106127 53106127 C T rs782532937 GPR173 Synonymous SNV F108F 0 0.005 0 0 0 2 0 0 0 0 0 0 7.143 176268 chr10 105164784 105164784 A G rs7914506 PDCD11 Synonymous SNV L136L 0.003 0 0.007 0 3 0 0 2 1 0 0 0 1.753 176269 chr1 16778470 16778470 G T rs141636841 NECAP2 Synonymous SNV V209V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.309 176270 chrX 55033028 55033028 T C rs145295903 APEX2 Synonymous SNV H68H 0 0.005 0.007 0 0 2 0 2 0 0 1 0 0.093 176271 chr10 105920885 105920885 A T rs143276654 CFAP43 Nonsynonymous SNV D1150E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.727 176272 chr10 106209902 106209902 A G CFAP58 Nonsynonymous SNV N817S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.504 176273 chrX 66765158 66765158 - GCAGCAGCAGCA AR Q80_E81insQQQQ 0.002 0.005 0 0 2 2 0 0 1 1 0 0 176274 chr10 111893160 111893160 G C rs73352950 ADD3 Nonsynonymous SNV M603I 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 17.42 176275 chr10 112581521 112581521 C T rs75858380 RBM20 Synonymous SNV S1048S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.27 176276 chr8 37963146 37963146 G C ASH2L Synonymous SNV G26G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.114 176277 chr10 114710560 114710560 C T rs76088094 TCF7L2 Synonymous SNV N15N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.23 176278 chrX 71522666 71522666 C T rs141552530 CITED1 Synonymous SNV A18A 0.004 0.003 0.003 0 5 1 0 1 1 0 0 0 15.75 176279 chrX 71813048 71813048 C T rs782453258 PHKA1 Nonsynonymous SNV R978H 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 26.9 176280 chrX 73964127 73964127 G A rs752314023 NEXMIF Nonsynonymous SNV H89Y 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 23.9 176281 chrX 76907682 76907682 T G ATRX Synonymous SNV T1455T 0 0.005 0 0 0 2 0 0 0 0 0 0 9.785 176282 chrX 84562242 84562242 G A POF1B Nonsynonymous SNV S364L 0 0.005 0 0 0 2 0 0 0 0 0 0 21.3 176283 chr10 116203801 116203801 A C rs74158004 ABLIM1 Synonymous SNV S216S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.617 176284 chr1 20641033 20641033 G A rs559826304 VWA5B1 Nonsynonymous SNV V171M 0.005 0 0 0 6 0 0 0 0 0 0 0 29.2 176285 chr10 119043827 119043827 A G rs35664484 PDZD8 Nonsynonymous SNV V806A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 176286 chr10 119134433 119134433 G A rs73393113 PDZD8 Synonymous SNV I102I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.704 176287 chr10 120353721 120353721 G A rs7068777 PRLHR Synonymous SNV L346L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 5.599 176288 chr10 120790060 120790060 T C rs115746118 NANOS1 Synonymous SNV C249C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.509 176289 chr10 120802053 120802053 A T rs532138 EIF3A Nonsynonymous SNV D993E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.99 176290 chr10 121182759 121182759 C A rs56254855 GRK5 Nonsynonymous SNV L141I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.74 176291 chr10 12129565 12129565 C T rs149544379 DHTKD1 Nonsynonymous SNV S185L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 176292 chr10 101564000 101564000 G T rs4267009 ABCC2 Synonymous SNV A478A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 176293 chr10 121429369 121429369 C G rs144041999 BAG3 Nonsynonymous SNV P63A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 176294 chr10 121436204 121436204 C T rs144692954 BAG3 Nonsynonymous SNV P380S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 17.86 176295 chr8 6728329 6728329 G A rs1800957 DEFB1 Synonymous SNV G27G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 5.389 176296 chrX 48924979 48924979 C T rs200874918 CCDC120 Synonymous SNV S443S 0.002 0.005 0 0 2 2 0 0 1 1 0 0 6.908 176297 chrX 49955729 49955729 C T rs78668179 AKAP4 Synonymous SNV E813E 0.002 0.005 0 0 2 2 0 0 1 1 0 0 10.92 176298 chr10 123845064 123845064 G A rs115790843 TACC2 Nonsynonymous SNV A1017T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.907 176299 chr10 123970513 123970513 G A rs35913854 TACC2 Synonymous SNV T269T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 4.524 176300 chr8 72968052 72968052 G A rs560054007 TRPA1 Synonymous SNV N411N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.87 176301 chr10 103294479 103294479 C T rs4151059 BTRC Synonymous SNV L361L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.93 176302 chr10 124339375 124339375 C A rs145382439 DMBT1 Nonsynonymous SNV H321N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 176303 chr10 124802666 124802666 G A rs76111609 ACADSB Synonymous SNV P160P 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.09 176304 chrX 70343004 70343004 G A MED12 Synonymous SNV K515K 0 0.005 0 0 0 2 0 0 0 1 0 0 Likely benign 12.11 176305 chr2 179585181 179585181 C T rs374739582 TTN Nonsynonymous SNV G6526R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 22.7 176306 chr10 125780699 125780699 T C rs115519873 CHST15 Nonsynonymous SNV S474G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.647 176307 chr10 126136119 126136119 G T rs7089970 NKX1-2 Nonsynonymous SNV A271E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.39 176308 chr10 127461268 127461268 G C rs146859109 MMP21 Nonsynonymous SNV A250G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 176309 chrX 77258609 77258609 C G ATP7A Nonsynonymous SNV A528G 0 0.005 0 0 0 2 0 0 0 1 0 0 Uncertain significance 29.4 176310 chr10 127512202 127512202 G A rs138840348 BCCIP Nonsynonymous SNV E26K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 176311 chr10 127525301 127525301 C T rs142010622 DHX32 Nonsynonymous SNV M729I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 176312 chr10 127726846 127726846 G A rs114788194 ADAM12 Synonymous SNV G771G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.571 176313 chr10 1279760 1279760 C T rs35356097 ADARB2 Synonymous SNV S463S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.572 176314 chr10 129216658 129216658 T A rs2229600 DOCK1 Synonymous SNV I1515I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 176315 chr10 129216772 129216772 A G rs375408682 DOCK1 Synonymous SNV P1553P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.16 176316 chr10 129216807 129216807 T C rs189743657 DOCK1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.248 176317 chr10 129875891 129875891 G A rs146660899 PTPRE Nonsynonymous SNV R359H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 176318 chr10 16562585 16562585 G C rs781482085 C1QL3 Synonymous SNV T160T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.296 176319 chr10 129903541 129903541 G C rs147363182 MKI67 Nonsynonymous SNV A1828G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 176320 chr10 129905523 129905523 G A rs61729205 MKI67 Synonymous SNV L1167L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.122 176321 chr10 13222508 13222508 T C rs12248671 MCM10 Synonymous SNV S277S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.484 176322 chr10 133930836 133930836 G T rs769498280 JAKMIP3 Nonsynonymous SNV V131F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 176323 chr10 134040424 134040424 T G rs148226238 STK32C Synonymous SNV L186L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.736 176324 chr10 134219291 134219291 C T rs139452616 PWWP2B Synonymous SNV D429D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 176325 chr2 189975087 189975087 A G rs142832916 COL5A2 Synonymous SNV C62C 0 0 0 4 0 0 0.01 0 0 0 0 0 Benign/Likely benign 4.546 176326 chr10 134738361 134738361 G A rs114856245 CFAP46 Synonymous SNV D365D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.675 176327 chr2 190530129 190530129 A C rs148109339 ASDURF Nonsynonymous SNV N58H 0 0 0 4 0 0 0.01 0 0 0 0 0 13.86 176328 chr10 134942310 134942310 C T rs9419122 ADGRA1 Synonymous SNV D229D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.163 176329 chr10 134981877 134981877 A G rs139253776 KNDC1 Nonsynonymous SNV I141V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.25 176330 chr10 135009239 135009239 G T rs149716790 KNDC1 Nonsynonymous SNV A550S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 176331 chr10 135106718 135106718 G A rs3008344 TUBGCP2 Synonymous SNV F153F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 176332 chr6 38645113 38645113 C G rs776327584 GLO1 Nonsynonymous SNV W171C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 176333 chr10 13824943 13824943 G A rs10160188 FRMD4A Synonymous SNV N137N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.15 176334 chr10 1405835 1405835 G A rs35398040 ADARB2 Synonymous SNV V155V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.884 176335 chr10 14563299 14563299 G C rs34265970 FAM107B Nonsynonymous SNV L96V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 176336 chr10 30316863 30316863 G A rs769006541 JCAD Synonymous SNV T738T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.001 176337 chr10 31137587 31137587 A G ZNF438 Nonsynonymous SNV F583L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 176338 chr1 36638161 36638161 G A rs764389319 MAP7D1 Nonsynonymous SNV R186H 0.003 0 0 0 4 0 0 0 0 0 0 0 34 176339 chr10 17271963 17271963 A C rs149942621 VIM Nonsynonymous SNV D181A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 27.6 176340 chr2 202483641 202483641 G A rs138864697 C2CD6 Synonymous SNV T71T 0 0 0 3 0 0 0.008 0 0 0 0 0 8.065 176341 chr9 111655316 111655316 A T rs180931232 ELP1 Nonsynonymous SNV L621M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 176342 chr10 19641134 19641134 G C rs75914067 MALRD1 Nonsynonymous SNV G1450A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 176343 chr2 204735634 204735634 C T rs777300741 CTLA4 Synonymous SNV N145N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.301 176344 chr10 23290937 23290937 G A rs141675946 ARMC3 Nonsynonymous SNV M242I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.583 176345 chr10 23633854 23633854 G T rs111538209 LOC105376453 0 0 0.003 0 0 0 0 1 0 0 0 0 7.424 176346 chr10 25312306 25312306 C A rs73608227 THNSL1 Nonsynonymous SNV L52I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 176347 chr10 26455024 26455024 G A rs61729833 MYO3A Nonsynonymous SNV E1010K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 176348 chr10 46135407 46135407 C G rs199995795 ZFAND4 Nonsynonymous SNV G192R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 176349 chr10 27324401 27324401 T G rs61745662 ANKRD26 Nonsynonymous SNV E992A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.6 176350 chr10 27436462 27436463 GC - rs74970402 YME1L1 Stop gain W101* 0.007 0 0.007 0 8 0 0 2 1 0 0 0 176351 chr10 29747307 29747307 C T rs190061943 SVIL-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 4.955 176352 chr10 29820937 29820937 G A rs75316730 SVIL Nonsynonymous SNV S668L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 176353 chr10 29821714 29821714 C A rs115256548 SVIL Nonsynonymous SNV A528S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.92 176354 chr10 30653746 30653746 C T rs112050892 GOLGA2P6 0 0 0.007 0 0 0 0 2 0 0 0 0 16.41 176355 chr10 30653849 30653849 A G rs7097904 GOLGA2P6 0 0 0.014 0 0 0 0 4 0 0 1 0 1.053 176356 chr10 30728026 30728026 T C rs77186746 MAP3K8 Synonymous SNV S53S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.028 176357 chr10 30749705 30749705 C T rs8177034 MAP3K8 Synonymous SNV L448L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.086 176358 chr10 30998272 30998272 G C rs58174819 SVIL2P 0 0 0.01 0 0 0 0 3 0 0 1 0 4.343 176359 chr10 3147621 3147621 G A rs141331919 PFKP Synonymous SNV A18A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.83 176360 chr10 3172034 3172034 C T rs61731930 PFKP Synonymous SNV S302S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.93 176361 chr10 47087498 47087498 C T rs141186509 NPY4R, NPY4R2 Nonsynonymous SNV R239W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.6 176362 chr10 3189561 3189561 C T rs73579007 PITRM1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.656 176363 chr10 3201178 3201178 G C rs34854792 PITRM1 Nonsynonymous SNV S323C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.5 176364 chr10 32103191 32103191 A C rs34923908 ARHGAP12 Synonymous SNV L558L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.111 176365 chr10 32197103 32197103 T G rs35390240 ARHGAP12 Synonymous SNV I227I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.587 176366 chr2 217124251 217124251 G A rs370767172 MARCHF4 Synonymous SNV S339S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.885 176367 chr10 32582661 32582661 A G rs60610378 EPC1 Synonymous SNV F106F 0 0 0.007 0 0 0 0 2 0 0 0 0 9.009 176368 chr10 32780902 32780902 A C rs73251552 CCDC7 Nonsynonymous SNV E283D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 24 176369 chr10 33067958 33067958 A G rs73255967 CCDC7 Nonsynonymous SNV M987V 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.538 176370 chr10 45430328 45430328 G A rs116008784 TMEM72 Nonsynonymous SNV G74R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.17 176371 chr10 46966615 46966615 G C rs368424508 LOC101927699, LOC102724593 0 0 0.007 0 0 0 0 2 0 0 0 0 1.297 176372 chr10 46967418 46967418 G A rs28728055 LOC101927699 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.63 176373 chr10 46998955 46998955 T C rs74131322 GPRIN2 Synonymous SNV S25S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.431 176374 chr1 48703478 48703478 C G rs138167685 SLC5A9 Nonsynonymous SNV L474V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11 176375 chr9 125315893 125315893 T G OR1N2 Nonsynonymous SNV Y135D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 176376 chr10 46999642 46999642 G A rs74131324 GPRIN2 Synonymous SNV G254G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.287 176377 chr2 220075521 220075521 C T rs148211042 ABCB6 Nonsynonymous SNV R677Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 35 176378 chr10 47087017 47087017 G C rs28691230 NPY4R, NPY4R2 Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.691 176379 chr10 129347807 129347809 TTG - rs775458309 NPS F21_W22delinsL 0.003 0 0 0 3 0 0 0 0 0 0 0 176380 chr10 48389582 48389582 C T rs147336433 RBP3 Synonymous SNV V432V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.33 176381 chr10 48438549 48438549 C T rs371166233 GDF10 Synonymous SNV R54R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 176382 chr2 220283341 220283341 G A DES Nonsynonymous SNV V53M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23 176383 chr9 125437728 125437728 T C rs746677060 OR1L3 Nonsynonymous SNV F107S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 176384 chr10 49791121 49791121 G A rs144669976 ARHGAP22 Synonymous SNV P37P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.606 176385 chr10 49982583 49982583 C T rs372387547 WDFY4 Synonymous SNV C878C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.913 176386 chr10 50193580 50193580 G A rs577253939 MIR4294 0 0 0.003 0 0 0 0 1 0 0 0 0 2.048 176387 chr10 50340117 50340117 C T rs116816516 FAM170B Synonymous SNV P131P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.93 176388 chr10 50669459 50669459 C G rs2229761 ERCC6 Nonsynonymous SNV V1308L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.136 176389 chr2 220421325 220421325 C A rs542416770 OBSL1 Nonsynonymous SNV G1396V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 176390 chr10 50678232 50678232 T C rs35756610 ERCC6 Synonymous SNV K1258K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.02 176391 chr10 50678347 50678347 G A rs34704611 ERCC6 Nonsynonymous SNV T1220I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.3 176392 chr10 50690820 50690820 C T rs35182583 ERCC6 Synonymous SNV P694P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.12 176393 chr10 50818871 50818871 C T rs8187734 SLC18A3 Nonsynonymous SNV R29W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.9 176394 chr10 50951018 50951018 G C rs34877195 OGDHL Nonsynonymous SNV S414C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.7 176395 chr10 52566602 52566602 C A rs11817448 A1CF Nonsynonymous SNV A550S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.42 176396 chr10 52566603 52566603 T G rs11812196 A1CF Synonymous SNV A549A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.513 176397 chrX 106186159 106186159 C T rs150263726 MORC4 Synonymous SNV Q654Q 0.003 0.003 0.007 2 3 1 0.005 2 1 0 1 0 Benign 0.033 176398 chr10 71174710 71174710 G A rs143396417 TACR2 Nonsynonymous SNV T193M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.708 176399 chr10 135003121 135003121 C T rs371489440 KNDC1 Synonymous SNV S487S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.45 176400 chr10 71899794 71899794 G A rs61748802 TYSND1 Synonymous SNV Y529Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 176401 chr10 26506825 26506825 C G GAD2 Nonsynonymous SNV P64R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.377 176402 chr10 71905802 71905819 CTCTCAGTTGATCCGCCT - rs562289648 TYSND1 E175_R180del 0 0.003 0 0 0 1 0 0 0 0 0 0 176403 chr10 6139047 6139047 C T rs115013140 RBM17 Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 176404 chr10 61830256 61830256 T C rs61732400 ANK3 Synonymous SNV Q3461Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.006 176405 chr10 62029934 62029934 G A rs71495633 ANK3 Synonymous SNV V139V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.25 176406 chr10 64911911 64911911 A C rs7910455 NRBF2 Synonymous SNV A29A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.015 176407 chr10 64975376 64975376 A G rs34037273 JMJD1C Synonymous SNV G34G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.444 176408 chr10 696223 696223 G T rs79645637 PRR26 Nonsynonymous SNV R58L 0.001 0 0.01 0 1 0 0 3 0 0 1 0 2.79 176409 chr9 131799255 131799255 A G rs1018784555 MIGA2 Synonymous SNV G3G 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 7.518 176410 chr10 696265 696265 C T rs184617249 PRR26 Nonsynonymous SNV T72M 0.001 0 0.01 0 1 0 0 3 0 0 1 0 22.7 176411 chr10 69676297 69676297 A G rs35224060 SIRT1 Nonsynonymous SNV I428V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 176412 chr2 231624745 231624745 A G rs371657461 CAB39 Nonsynonymous SNV K10R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.77 176413 chr10 70179565 70179565 C T rs75569266 DNA2 Nonsynonymous SNV V928I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.942 176414 chr2 233208191 233208191 G A DIS3L2 Nonsynonymous SNV R573Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.53 176415 chr10 73571490 73571490 C A CDH23 Nonsynonymous SNV A860D 0 0.003 0 0 0 1 0 0 0 0 0 0 33 176416 chr10 74451969 74451969 C T rs756899799 MCU Synonymous SNV G20G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.01 176417 chr10 75276288 75276288 C T rs150112870 USP54 Nonsynonymous SNV R1242K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.91 176418 chr10 71176066 71176066 T C rs61732394 TACR2 Nonsynonymous SNV D5G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 176419 chr10 72015429 72015429 C A rs61746115 NPFFR1 Nonsynonymous SNV A193S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 23.3 176420 chr10 7205741 7205741 G A rs60483860 SFMBT2 Synonymous SNV Y892Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.297 176421 chr10 72462095 72462095 G A rs35682622 ADAMTS14 Nonsynonymous SNV D184N 0 0 0.007 0 0 0 0 2 0 0 1 0 26 176422 chr10 73050774 73050774 G A rs34447655 UNC5B Nonsynonymous SNV R390H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 176423 chr10 73115914 73115914 C T rs113542201 SLC29A3 Synonymous SNV S229S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.38 176424 chr10 73375322 73375322 G A rs111033474 CDH23 Synonymous SNV L298L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.48 176425 chr6 129766816 129766816 C T rs141190803 LAMA2 Synonymous SNV A2093A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.55 176426 chr10 73472450 73472450 G A rs79805606 CDH23 Synonymous SNV T1083T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.95 176427 chr10 74671516 74671516 T C rs35089256 OIT3 Nonsynonymous SNV S237P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 176428 chr10 75264824 75264824 G C rs80033569 PPP3CB-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 176429 chr10 90701593 90701593 A G rs751300489 ACTA2 Nonsynonymous SNV Y135H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.3 176430 chr10 7621730 7621730 G A rs35026350 ITIH5 Nonsynonymous SNV S255L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 176431 chr10 78316976 78316976 G A rs75852090 LRMDA Nonsynonymous SNV G176E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 31 176432 chr10 7841811 7841811 A G rs139967528 ATP5F1C Nonsynonymous SNV I122V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 176433 chr10 79741231 79741231 G A rs116197727 POLR3A Synonymous SNV I1282I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.08 176434 chr10 79744020 79744020 G A rs77540138 POLR3A Synonymous SNV D1093D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.765 176435 chr10 8100632 8100632 T C rs2228254 GATA3 Synonymous SNV R202R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.784 176436 chr10 95537151 95537151 C T rs762343857 LGI1 Synonymous SNV N101N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.44 176437 chr10 95848918 95848918 G A rs144179807 PLCE1 Nonsynonymous SNV V23M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 176438 chr2 241874953 241874953 A C CROCC2 Nonsynonymous SNV Q706P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 176439 chr10 85984745 85984745 C T rs141547930 LRIT2 Nonsynonymous SNV S79N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 176440 chrX 47307006 47307011 ACATTC - rs760995806 ZNF41 E634_C635del 0.002 0.003 0 0 2 1 0 0 1 0 0 0 176441 chr10 85997055 85997055 G A rs145712962 LRIT1 Synonymous SNV L170L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 176442 chr10 86133546 86133546 A G rs150301166 CCSER2 Nonsynonymous SNV Y530C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 176443 chr10 98155756 98155756 T C rs142073814 TLL2 Nonsynonymous SNV N469S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.338 176444 chr10 88441447 88441447 G A rs45543741 LDB3 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.917 176445 chr10 88696698 88696698 G A rs61740815 MMRN2 Synonymous SNV T884T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.59 176446 chr10 88704176 88704176 C T rs143308701 MMRN2 Synonymous SNV V166V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.363 176447 chr10 88822425 88822425 T G rs113997422 GLUD1 Synonymous SNV T170T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.83 176448 chr10 89311938 89311938 C G MINPP1 Nonsynonymous SNV P312R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.595 176449 chr10 90762801 90762801 G A rs3218619 FAS Nonsynonymous SNV A16T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.507 176450 chr10 91099593 91099593 A G rs34407818 IFIT3 Nonsynonymous SNV D394G 0.001 0 0.01 3 1 0 0.008 3 0 0 0 0 9.768 176451 chr9 140260734 140260734 C T EXD3 Nonsynonymous SNV E246K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.442 176452 chr10 99655074 99655074 C A rs373229534 CRTAC1 Nonsynonymous SNV A472S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.9 176453 chr10 91498808 91498808 G T rs36109527 KIF20B Nonsynonymous SNV E1290D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 176454 chr10 93749103 93749103 T C rs74490737 BTAF1 Synonymous SNV L874L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.661 176455 chr10 94715431 94715431 C T rs35647717 EXOC6 Nonsynonymous SNV T475I 0 0 0.007 0 0 0 0 2 0 0 1 0 25.6 176456 chr10 95276692 95276692 G A rs59085212 CEP55 Nonsynonymous SNV G227D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.104 176457 chr10 97154372 97154372 A G rs763876034 SORBS1 Synonymous SNV S320S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 176458 chr3 9911904 9911904 C A rs768706357 CIDEC Nonsynonymous SNV D30Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 176459 chr10 97786973 97786973 G A rs111687262 CC2D2B Nonsynonymous SNV E282K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 176460 chr10 98157008 98157008 C T rs764180616 TLL2 Nonsynonymous SNV R440Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 176461 chr10 98743376 98743376 T C rs36096056 LCOR Synonymous SNV D1053D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 176462 chr10 98790567 98790567 G A rs61731899 SLIT1 Synonymous SNV D843D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 9.74 176463 chr10 98808746 98808746 G T rs73320652 SLIT1 Synonymous SNV I477I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.77 176464 chr10 99332289 99332289 C T rs568513038 ANKRD2 Nonsynonymous SNV T28M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.901 176465 chr11 10022523 10022523 T A SBF2 Nonsynonymous SNV S267C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 176466 chr11 100999443 100999443 G A rs11571144 PGR Nonsynonymous SNV A120V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 176467 chr11 1016885 1016885 A C rs760998763 MUC6 Synonymous SNV P1972P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.293 176468 chr1 1565849 1565849 C T MIB2 Nonsynonymous SNV A986V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 176469 chr1 113126734 113126734 T C rs149944183 ST7L Nonsynonymous SNV Y56C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 176470 chr1 113653082 113653082 C T rs201013312 LRIG2 Nonsynonymous SNV H566Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 176471 chr11 1017475 1017475 T A rs767120670 MUC6 Nonsynonymous SNV T1776S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 176472 chr11 1017480 1017480 G T rs753554400 MUC6 Nonsynonymous SNV T1774N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.045 176473 chr3 27427403 27427403 T C rs761540173 SLC4A7 Nonsynonymous SNV K1030E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.44 176474 chr1 118479396 118479396 C T rs199700726 WDR3 Nonsynonymous SNV T129I 0.002 0 0 0 2 0 0 0 0 0 0 0 32 176475 chr11 1018156 1018156 G A rs199833698 MUC6 Nonsynonymous SNV P1549S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 176476 chr11 1018157 1018157 G C rs12807209 MUC6 Nonsynonymous SNV N1548K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 176477 chr11 101829070 101829070 C T rs61742070 CEP126 Synonymous SNV L226L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.98 176478 chr11 102398391 102398391 A G rs151212258 MMP7 Synonymous SNV Y116Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 176479 chr11 102563757 102563757 G C rs75721182 MMP27 Synonymous SNV T403T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 176480 chr11 102592488 102592488 C T rs76594083 MMP8 Nonsynonymous SNV R118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.6 176481 chr11 1029541 1029541 C T rs114461600 MUC6 Nonsynonymous SNV A364T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.35 176482 chr3 38354498 38354498 C T rs116032919 SLC22A14 Nonsynonymous SNV P318L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 176483 chr3 38388374 38388374 C A rs200557242 XYLB Synonymous SNV A5A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.46 176484 chr11 103157059 103157059 A G rs151156076 DYNC2H1 Nonsynonymous SNV M3656V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.223 176485 chr9 125512408 125512408 C T rs41309328 OR1L6 Synonymous SNV S94S 0.002 0.005 0 0 2 2 0 0 1 1 0 0 1.988 176486 chr11 103173964 103173964 C T rs78599571 DYNC2H1 Synonymous SNV S3746S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.41 176487 chr11 1031909 1031909 C T rs115598122 MUC6 Nonsynonymous SNV R87Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 176488 chr11 1033055 1033055 T C rs114419891 MUC6 Nonsynonymous SNV T25A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 176489 chr11 103814223 103814223 G T rs61751517 PDGFD Synonymous SNV T243T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 176490 chr11 103907737 103907737 T G rs77537692 DDI1 Nonsynonymous SNV S63A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.464 176491 chr11 105924402 105924402 C T rs114847316 KBTBD3 Synonymous SNV S259S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 176492 chr11 106680743 106680743 C G GUCY1A2 Nonsynonymous SNV Q556H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 176493 chr1 151774111 151774111 C T rs779697324 LINGO4 Nonsynonymous SNV G357D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 176494 chr11 1080522 1080522 C T rs41476246 MUC2 Synonymous SNV P388P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.33 176495 chr11 108121733 108121733 G A rs2235000 ATM Nonsynonymous SNV G514D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.6 176496 chr11 108150316 108150316 A G rs2229020 ATM Nonsynonymous SNV Q1128R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 21.9 176497 chr11 108381118 108381118 C T rs36022102 EXPH5 Nonsynonymous SNV V1518I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.792 176498 chr11 1084753 1084753 G A rs41530046 MUC2 Nonsynonymous SNV V850M 0 0 0.007 0 0 0 0 2 0 0 0 0 15.29 176499 chr1 152648677 152648677 C T rs150478080 LCE2C Synonymous SNV G62G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.999 176500 chr11 1093907 1093907 C T rs200657715 MUC2 Nonsynonymous SNV P1909L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.856 176501 chr11 110451721 110451721 T G rs34417210 ARHGAP20 Nonsynonymous SNV Q627P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 176502 chr11 111155085 111155085 C T rs200045152 C11orf53 Nonsynonymous SNV P150S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.376 176503 chr11 111228529 111228529 T C rs35664667 POU2AF1 Nonsynonymous SNV T61A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.234 176504 chr11 111414734 111414734 G A rs11827718 LAYN Nonsynonymous SNV E58K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 31 176505 chr11 111591642 111591642 A G rs17113207 SIK2 Synonymous SNV Q600Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.706 176506 chr11 111724397 111724397 G A rs17113312 ALG9 Nonsynonymous SNV S84L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.4 176507 chr11 111749775 111749775 T C rs59164893 FDXACB1 Nonsynonymous SNV T28A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 176508 chr11 111957427 111957427 G A rs61734353 TIMM8B Synonymous SNV A7A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.194 176509 chr11 113258762 113258762 C G rs111789052 ANKK1 Nonsynonymous SNV C52W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 176510 chr1 153946395 153946395 G A rs747194590 CREB3L4 Nonsynonymous SNV E348K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.73 176511 chr11 113270024 113270024 C T rs78229381 ANKK1 Nonsynonymous SNV R445C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.82 176512 chr11 113561016 113561016 G A rs115577137 TMPRSS5 Synonymous SNV S268S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.854 176513 chr11 113568096 113568096 C T rs7939917 TMPRSS5 Nonsynonymous SNV V81M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.178 176514 chr11 11373631 11373631 C T rs74507390 CSNK2A3 Nonsynonymous SNV V346I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.08 176515 chr1 154960953 154960953 C T rs199979286 FLAD1 Stop gain R249X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 38 176516 chr1 155018603 155018603 C A rs769226275 DCST1 Synonymous SNV G400G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.03 176517 chr11 113857564 113857567 TGCA - rs555823063 HTR3A C344Wfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 176518 chr11 114393066 114393066 A G rs34993124 NXPE1 Nonsynonymous SNV I281T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.4 176519 chr11 11454228 11454228 C T GALNT18 Nonsynonymous SNV E179K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 176520 chr11 114568940 114568940 T C rs56402937 NXPE2 Synonymous SNV H102H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.593 176521 chr11 114569312 114569312 T C rs58086120 NXPE2 Synonymous SNV N226N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 176522 chr11 114577456 114577456 T C rs7108474 NXPE2 Nonsynonymous SNV I495T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 176523 chr11 116691886 116691886 C T rs5107 APOA4 Synonymous SNV L296L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.284 176524 chr11 117053269 117053269 C T rs137918918 SIDT2 Nonsynonymous SNV S184L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.5 176525 chr3 46937345 46937345 G A rs41290646 PTH1R Nonsynonymous SNV G100D 0.006 0.016 0.027 4 7 6 0.01 8 0 0 0 0 Benign/Likely benign 19.49 176526 chr11 117299446 117299446 G A rs76827288 DSCAML1 Synonymous SNV C1920C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.235 176527 chr11 117789271 117789271 C T rs115996442 TMPRSS13 Nonsynonymous SNV G102S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.195 176528 chr11 117789418 117789418 G A rs144849116 TMPRSS13 Nonsynonymous SNV R53W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 176529 chr11 117975449 117975449 G A rs145094243 TMPRSS4 Synonymous SNV S78S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.522 176530 chr11 118106253 118106253 A C rs36102742 MPZL3 Nonsynonymous SNV V156G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 176531 chrX 105142691 105142691 G A rs771168827 NRK Nonsynonymous SNV R232H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 176532 chr3 48658417 48658417 C T rs200732221 TMEM89 Nonsynonymous SNV R113Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.66 176533 chr11 12281716 12281716 C T rs148253263 MICAL2 Synonymous SNV R955R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.603 176534 chr11 118849713 118849713 T C rs78044850 FOXR1 Synonymous SNV I61I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.048 176535 chr11 118890908 118890908 C T rs61730037 TRAPPC4 Synonymous SNV G133G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.56 176536 chr11 118924835 118924835 T A rs34446044 HYOU1 Synonymous SNV V264V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.68 176537 chr11 119052975 119052975 G T rs35500631 NLRX1 Nonsynonymous SNV A843S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 176538 chr11 119058163 119058163 C A rs35242532 PDZD3 Nonsynonymous SNV T172N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 176539 chr11 119064572 119064572 G A rs76799613 CCDC153 Stop gain R54X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 176540 chr3 50325667 50325667 G A IFRD2 Synonymous SNV T492T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.18 176541 chr11 119215072 119215072 C A MFRP Nonsynonymous SNV G310C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 176542 chr11 119243612 119243612 T C rs4938649 USP2 Synonymous SNV E193E 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 7.747 176543 chr11 119265717 119265717 A G rs114426742 USP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.162 176544 chrX 114141154 114141154 G A rs149710250 HTR2C Nonsynonymous SNV V185I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.119 176545 chr11 1016960 1016960 G T rs113980831 MUC6 Synonymous SNV T1947T 0.001 0 0.014 1 1 0 0.003 4 0 0 0 0 0.259 176546 chr11 120742196 120742196 T C rs11604517 LOC101929227 0 0 0.007 0 0 0 0 2 0 0 0 0 3.724 176547 chr11 120742368 120742368 C T rs78588138 LOC101929227 0 0 0.007 0 0 0 0 2 0 0 0 0 8.259 176548 chr11 120811161 120811161 G A rs2230298 GRIK4 Nonsynonymous SNV V528I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 25.3 176549 chr3 52523404 52523404 G A NISCH Nonsynonymous SNV A1056T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.575 176550 chr11 121420750 121420750 C T rs115226090 SORL1 Synonymous SNV S711S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.17 176551 chr11 121454252 121454252 G A rs141401572 SORL1 Synonymous SNV T1222T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.63 176552 chr11 122735368 122735368 C T rs75065751 CRTAM Nonsynonymous SNV T54I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.287 176553 chr11 12281353 12281353 A G rs1027334 MICAL2 Synonymous SNV T834T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.139 176554 chr11 12281427 12281427 T C rs1027335 MICAL2 Nonsynonymous SNV L859P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 176555 chrX 12838886 12838886 G A rs142502838 PRPS2 Synonymous SNV P279P 0.003 0.003 0 0 3 1 0 0 1 0 0 0 12.9 176556 chr11 123624384 123624384 G C rs74789559 OR6X1 Synonymous SNV P281P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.026 176557 chr11 123624425 123624425 T C rs75836681 OR6X1 Nonsynonymous SNV I268V 0 0 0.007 0 0 0 0 2 0 0 0 0 4.683 176558 chr11 123777511 123777511 G T rs61745074 OR8D4 Nonsynonymous SNV A125S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 176559 chr11 102643662 102643662 G T rs377147064 MMP10 Nonsynonymous SNV P381H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 176560 chr1 161183716 161183716 G A rs190184430 NDUFS2 Synonymous SNV T453T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.53 176561 chr11 124096173 124096173 T C rs748028497 OR8G2P Nonsynonymous SNV L259S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.307 176562 chr11 103797828 103797828 C T rs35362578 PDGFD Nonsynonymous SNV A267T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 176563 chr11 124096181 124096181 G T rs772232933 OR8G2P Nonsynonymous SNV A262S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.546 176564 chr1 22987846 22987846 C T rs143233049 C1QB Synonymous SNV S243S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 176565 chr11 124628420 124628420 G A rs147752327 ESAM Nonsynonymous SNV P25L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 176566 chr11 124764176 124764176 T C rs11820142 ROBO4 Synonymous SNV P268P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.987 176567 chr1 167741701 167741701 A G MPZL1 Nonsynonymous SNV I150V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 176568 chr11 1248994 1248994 G A rs56179538 MUC5B Nonsynonymous SNV G253S 0 0.003 0.003 2 0 1 0.005 1 0 0 0 1 Benign 0.102 176569 chr3 69246138 69246138 T C rs776636133 FRMD4B Synonymous SNV T335T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.135 176570 chr11 111156650 111156650 A C C11orf53 Synonymous SNV L246L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.362 176571 chr11 111591746 111591746 C T rs148331121 SIK2 Nonsynonymous SNV A635V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.82 176572 chr7 158109553 158109553 G A rs142168869 PTPRN2 Synonymous SNV L62L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 1.067 176573 chr3 81810551 81810551 G T rs35196441 GBE1 Nonsynonymous SNV P40T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign/Likely benign 23.1 176574 chr1 26511525 26511525 C T rs781186112 CNKSR1 Nonsynonymous SNV R393C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 176575 chr11 125831852 125831852 G A CDON Nonsynonymous SNV P1133L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.278 176576 chr11 1263411 1263411 G A rs55834603 MUC5B Synonymous SNV T1767T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.025 176577 chr11 128842716 128842716 A G rs112411848 ARHGAP32 Nonsynonymous SNV S866P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 7.45 176578 chr11 128994739 128994739 C T rs76444326 ARHGAP32 Synonymous SNV T92T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 19.28 176579 chr9 140396140 140396140 C T rs374175666 PNPLA7 Nonsynonymous SNV V480I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 176580 chr11 113670072 113670072 C T rs141315096 USP28 Nonsynonymous SNV V709I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 176581 chr11 113679904 113679904 T C rs143129056 USP28 Nonsynonymous SNV Q349R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 176582 chr11 1298304 1298304 T C rs111986008 TOLLIP Nonsynonymous SNV I214V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.3 176583 chr11 13032480 13032480 A G rs114750615 RASSF10 Nonsynonymous SNV S453G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 176584 chr1 176913102 176913102 C T rs780039050 ASTN1 Nonsynonymous SNV V768M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 176585 chr11 133768555 133768555 C T rs57450409 MIR4697HG 0 0 0.007 0 0 0 0 2 0 0 0 0 8.604 176586 chr11 133816023 133816023 G A rs145387553 IGSF9B Synonymous SNV F65F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 176587 chr11 134123514 134123514 G C rs35181923 ACAD8 Nonsynonymous SNV R7P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.95 176588 chr1 27709045 27709045 G A rs375908957 CD164L2 Synonymous SNV D67D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.336 176589 chr11 1466611 1466611 C T rs56369975 BRSK2 Synonymous SNV P300P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 176590 chr11 14990404 14990404 A T rs34414857 CALCA Nonsynonymous SNV S123T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 176591 chr11 14990456 14990456 C T rs35709504 CALCA Synonymous SNV T105T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 176592 chr1 179310360 179310360 T C rs769409695 SOAT1 Nonsynonymous SNV I174T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 176593 chr11 14992735 14992735 C G rs34587547 CALCA Nonsynonymous SNV G2R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 176594 chr11 1501709 1501709 C T rs144728264 MOB2 Synonymous SNV T93T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 176595 chr1 28599938 28599938 C T rs148305939 SESN2 Nonsynonymous SNV R274W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 176596 chr11 1585151 1585151 G A rs150227968 DUSP8 Synonymous SNV A100A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 176597 chr11 16863223 16863223 G A rs16933529 PLEKHA7 Nonsynonymous SNV A248V 0 0 0.007 0 0 0 0 2 0 0 0 0 2.31 176598 chr11 17547917 17547917 T C rs75977878 USH1C Synonymous SNV V217V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.422 176599 chr11 18261500 18261500 G A rs111333947 SAA2 Synonymous SNV L83L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.078 176600 chr11 1857478 1857478 G A rs114726683 SYT8 Synonymous SNV T175T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 176601 chr11 18723477 18723477 T C rs7945285 TMEM86A Nonsynonymous SNV V215A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.596 176602 chr11 18754176 18754176 T C PTPN5 Nonsynonymous SNV H407R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 176603 chr6 6224919 6224919 A G F13A1 Nonsynonymous SNV F325L 0 0 0 2 0 0 0.005 0 0 0 0 0 32 176604 chr11 19180530 19180530 T C rs183652210 ZDHHC13 Nonsynonymous SNV F221L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 176605 chr1 186007975 186007975 A G HMCN1 Nonsynonymous SNV K1956E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 176606 chr11 19735325 19735325 C A rs11828836 NAV2 Synonymous SNV P28P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.71 176607 chr1 186915818 186915818 T C rs374085425 PLA2G4A Synonymous SNV T301T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.417 176608 chr1 35580666 35580666 A G rs755288914 ZMYM1 Nonsynonymous SNV T1004A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 176609 chr11 20404529 20404529 T C rs143261552 HTATIP2 Synonymous SNV V169V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.163 176610 chr11 20676315 20676315 C T rs147975180 SLC6A5 Synonymous SNV H531H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.64 176611 chr11 2161488 2161488 G C rs80080270 IGF2 Synonymous SNV P13P 0 0 0.01 0 0 0 0 3 0 0 0 0 4.102 176612 chr11 2182166 2182166 C T rs3842744 INS, INS-IGF2 Synonymous SNV A12A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.28 176613 chr11 2186518 2186518 C T rs36097848 TH Synonymous SNV T426T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.34 176614 chr11 2189161 2189161 G A rs147852210 TH Synonymous SNV G193G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.28 176615 chr11 2191006 2191006 C T rs34510659 TH Synonymous SNV S62S 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 12.15 176616 chr11 2436567 2436567 G A rs7102871 TRPM5 Synonymous SNV S421S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.98 176617 chr7 37947185 37947185 G C rs750688162 SFRP4 Nonsynonymous SNV P313A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.329 176618 chr11 2443480 2443480 C T rs58851997 TRPM5 Synonymous SNV P63P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.68 176619 chr11 2443534 2443534 G A rs148612502 TRPM5 Synonymous SNV S45S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.192 176620 chr11 26587350 26587350 G C rs293979 MUC15 Nonsynonymous SNV S19W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.538 176621 chr11 27390488 27390488 T C rs35947785 LGR4 Synonymous SNV L570L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.186 176622 chr1 41327664 41327664 G A CITED4 Nonsynonymous SNV P46S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 176623 chrX 71425812 71425812 C T ERCC6L Synonymous SNV E935E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.75 176624 chr11 284299 284299 A G rs7108261 NLRP6 Synonymous SNV A756A 0.001 0.003 0.014 2 1 1 0.005 4 0 0 1 0 0.003 176625 chr11 2909513 2909513 C T rs190533743 SLC22A18AS Nonsynonymous SNV R117H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 176626 chr11 3239838 3239838 A T rs146728575 MRGPRG Nonsynonymous SNV V69E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 176627 chr11 32421533 32421533 T C rs2234590 WT1 Synonymous SNV Q341Q 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign 0.04 176628 chr11 32460238 32460238 T C rs115612047 WT1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.691 176629 chr11 32460401 32460401 C T rs114247773 WT1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 176630 chrX 83616610 83616610 C T rs868328516 HDX Nonsynonymous SNV R381H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 176631 chr11 3249982 3249982 G A rs76078616 MRGPRE Synonymous SNV G16G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.03 176632 chr11 33596316 33596316 C T rs61735318 KIAA1549L Synonymous SNV N1433N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.01 176633 chr11 34485711 34485711 C T rs704724 CAT Synonymous SNV L419L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.05 176634 chr11 34969150 34969150 C T rs34582941 PDHX Synonymous SNV I98I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 13.31 176635 chr11 35302470 35302470 T C rs7102949 SLC1A2 Synonymous SNV T455T 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 1.477 176636 chr11 35308372 35308372 C T rs34076319 SLC1A2 Synonymous SNV A406A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.02 176637 chr11 35641428 35641428 G A rs12286850 FJX1 Nonsynonymous SNV R415H 0.002 0 0.003 0 2 0 0 1 1 0 0 0 22.8 176638 chr1 204955126 204955126 G A rs143685997 NFASC Nonsynonymous SNV R903H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.49 176639 chr11 3681038 3681038 A C rs75833378 ART1 Nonsynonymous SNV S97R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 176640 chr11 372169 372169 A G rs116462225 B4GALNT4 Nonsynonymous SNV Q71R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.872 176641 chr11 377139 377139 C A rs116235888 B4GALNT4 Synonymous SNV L672L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.51 176642 chr11 432039 432039 G A rs79298697 ANO9 Synonymous SNV I122I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.508 176643 chr11 43413028 43413028 A C rs12099204 TTC17 Nonsynonymous SNV I145L 0.002 0 0.01 0 2 0 0 3 0 0 1 0 15.12 176644 chr11 44129386 44129386 A G rs4755779 EXT2 Nonsynonymous SNV M75V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.061 176645 chr11 4470707 4470707 T C rs61735705 OR52K2 Synonymous SNV T46T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.005 176646 chr11 45275951 45275951 C A rs61738988 SYT13 Synonymous SNV V138V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 176647 chr11 45277275 45277275 C T rs61999274 SYT13 Synonymous SNV P117P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 176648 chr11 45277326 45277326 A G rs61738991 SYT13 Synonymous SNV Y100Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 176649 chr11 45277380 45277380 G T rs61738989 SYT13 Synonymous SNV I82I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 176650 chr11 4567086 4567086 G A rs61735146 OR52M1 Synonymous SNV V222V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 176651 chr11 45713274 45713274 A C rs116153172 MIR7154 0 0 0.003 0 0 0 0 1 0 0 0 0 4.809 176652 chr1 209791358 209791358 T C rs140769823 LAMB3 Nonsynonymous SNV D982G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.12 176653 chr11 45948889 45948889 G A rs78165365 LARGE2 Nonsynonymous SNV C450Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 176654 chr1 212216369 212216369 G A rs144020812 DTL Synonymous SNV L29L 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 8.866 176655 chr11 46419411 46419411 G A rs12295608 AMBRA1 Synonymous SNV A1102A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.82 176656 chr11 4661514 4661514 G T rs115815368 OR51D1 Nonsynonymous SNV G165V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 176657 chr11 46724289 46724289 C G rs4297419 ZNF408 Synonymous SNV A114A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.7 176658 chr1 212553244 212553244 G - rs532279691 PACC1 L211Cfs*7 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 176659 chr11 4791046 4791046 A G rs16938394 OR51F1 Synonymous SNV C41C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.05 176660 chr1 215823984 215823984 C T rs530395989 USH2A Nonsynonymous SNV V4765I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.494 176661 chr11 48118374 48118374 A T rs73466882 MIR3161 0 0 0.003 0 0 0 0 1 0 0 0 0 0.302 176662 chr11 48149572 48149572 C T rs78258670 PTPRJ Nonsynonymous SNV P445L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 176663 chr11 48238500 48238500 G A rs61731419 OR4B1 Nonsynonymous SNV V47I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 176664 chr11 48239016 48239016 A G rs61731414 OR4B1 Nonsynonymous SNV I219V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.64 176665 chrX 107976866 107976866 T C IRS4 Synonymous SNV P903P 0.003 0.003 0 0 4 1 0 0 1 0 0 0 1.409 176666 chrX 107976868 107976868 G C IRS4 Nonsynonymous SNV P903A 0.003 0.003 0 0 4 1 0 0 1 0 0 0 19.11 176667 chr11 1974076 1974076 C T rs150905163 MRPL23 Synonymous SNV Y96Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 176668 chrX 117815041 117815041 G A rs777195913 DOCK11 Nonsynonymous SNV V1898M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 176669 chr1 223933094 223933094 C T rs3738377 CAPN2 Synonymous SNV A93A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 176670 chr11 48387354 48387354 C T rs73460771 OR4C5 Nonsynonymous SNV A222T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 176671 chr3 157082244 157082244 T C VEPH1 Nonsynonymous SNV I395M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 176672 chr1 226037778 226037778 G C rs115530894 TMEM63A Nonsynonymous SNV L636V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.5 176673 chr1 228109663 228109663 G A rs76902368 WNT9A Synonymous SNV H218H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.816 176674 chr3 170425983 170425987 GGTAG - SLC7A14-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 176675 chr1 228412243 228412243 G A rs781382858 OBSCN Nonsynonymous SNV E913K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 176676 chr7 105279048 105279048 C T rs61734762 ATXN7L1 Synonymous SNV S194S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 176677 chr3 183580581 183580581 C T rs752365881 PARL Synonymous SNV K157K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.43 176678 chr11 5423843 5423843 A T rs116325098 OR51J1 Nonsynonymous SNV N6I 0 0 0.007 0 0 0 0 2 0 0 0 0 3.831 176679 chr1 229745926 229745926 C T rs144773325 TAF5L Synonymous SNV V58V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.97 176680 chr3 184043512 184043512 C T rs530888556 SNORD66 0 0 0 1 0 0 0.003 0 0 0 0 0 16.54 176681 chr1 230904972 230904972 T C rs144186744 CAPN9 Nonsynonymous SNV I188T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.5 176682 chr11 232981 232981 A G SIRT3 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 176683 chr1 231885807 231885807 G A rs144959108 DISC1 Nonsynonymous SNV R68H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 11.52 176684 chr11 5510852 5510852 C T OR52D1 Stop gain R306X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 176685 chr11 55110989 55110989 C G rs116541488 OR4A16 Nonsynonymous SNV L105V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.561 176686 chr11 55340057 55340057 G A rs144962866 OR4C16 Nonsynonymous SNV V152M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.364 176687 chr11 55419147 55419147 C T rs74538149 OR4S2 Synonymous SNV Y256Y 0 0 0.007 0 0 0 0 2 0 0 1 0 8.318 176688 chrX 154014637 154014637 C G MPP1 Nonsynonymous SNV K156N 0.005 0.003 0 0 6 1 0 0 2 0 0 0 23.8 176689 chr11 55579078 55579078 A T rs2869020 OR5L1 Nonsynonymous SNV I46F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.46 176690 chr11 55587591 55587591 C T rs142792552 OR5D18 Synonymous SNV C162C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.456 176691 chr11 55594980 55594980 G - rs144106069 OR5L2 C97Afs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 176692 chr1 19491294 19491294 T C rs992486285 UBR4 Nonsynonymous SNV S1504G 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 176693 chr11 428382 428382 C T rs139493381 ANO9 Nonsynonymous SNV V256M 0.002 0 0 0 2 0 0 0 0 0 0 0 26 176694 chr11 55595401 55595401 A G rs148148644 OR5L2 Nonsynonymous SNV K236R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.8 176695 chr7 127999514 127999514 G A rs1036855251 PRRT4 Synonymous SNV L178L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.892 176696 chr11 55703523 55703523 G A rs11231594 OR5I1 Synonymous SNV A118A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.379 176697 chr11 55735091 55735091 C T rs12292026 OR10AG1 Synonymous SNV L283L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.87 176698 chr11 55747079 55747079 G A rs75930803 OR7E5P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.017 176699 chr1 236734902 236734902 T G rs76073611 HEATR1 Nonsynonymous SNV Q1264H 0.003 0 0 0 4 0 0 0 0 0 0 0 8.178 176700 chr11 55747295 55747295 C T rs146755900 OR7E5P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.289 176701 chrX 2799118 2799118 A G rs144947653 GYG2 Nonsynonymous SNV Q200R 0.002 0.008 0 0 2 3 0 0 0 1 0 0 Likely benign 14.21 176702 chr11 3022456 3022456 T A rs139920420 CARS1 Nonsynonymous SNV E712V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 176703 chr7 128470895 128470895 C G rs752213633 FLNC Synonymous SNV L68L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.47 176704 chr11 3039647 3039647 C T rs150252960 CARS1 Synonymous SNV K457K 0.002 0 0 0 2 0 0 0 0 0 0 0 17.68 176705 chr11 55904422 55904422 A G rs114758947 OR8J3 Nonsynonymous SNV M258T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.537 176706 chr1 21012549 21012549 G A rs41312008 KIF17 Nonsynonymous SNV P670L 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 1.711 176707 chr11 3111119 3111119 C T rs371734500 OSBPL5 Nonsynonymous SNV E752K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 176708 chr1 236759168 236759168 G T rs73114880 HEATR1 Synonymous SNV L307L 0.005 0 0 0 6 0 0 0 1 0 0 0 8.411 176709 chr11 55927591 55927591 A G rs2512938 OR8K5 Nonsynonymous SNV F68S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 176710 chr11 55944501 55944501 G C rs12279899 OR5J2 Nonsynonymous SNV M136I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 176711 chr11 55999976 55999976 G A rs115026244 OR5T2 Nonsynonymous SNV S229F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 176712 chr1 21306906 21306906 G C rs145973079 EIF4G3 Synonymous SNV P82P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.379 176713 chr11 32456777 32456777 T C WT1 Nonsynonymous SNV I44V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.17 176714 chr11 56020203 56020203 - GCTTCCTACGTTGCTG rs374471776 OR5T3 Frameshift insertion I183Ffs*18 0.001 0 0.003 0 1 0 0 1 0 0 0 0 176715 chr3 195295808 195295808 G A rs5955 APOD Nonsynonymous SNV T178M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.548 176716 chr11 56113703 56113703 C T rs145394503 OR8K1 Synonymous SNV T63T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.52 176717 chr11 56113769 56113769 G A rs17150344 OR8K1 Synonymous SNV P85P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.314 176718 chr11 56113923 56113923 C T rs61745885 OR8K1 Synonymous SNV L137L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.55 176719 chr11 56128226 56128226 T C rs11823483 OR8J1 Synonymous SNV Y168Y 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 0.001 176720 chr11 56143113 56143113 A G rs116344671 OR8U1, OR8U8 Nonsynonymous SNV N5S 0.002 0 0.007 0 2 0 0 2 0 0 1 0 11.27 176721 chr8 121561134 121561134 G A SNTB1 Stop gain R401X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 41 176722 chr1 22838238 22838238 A G rs201909816 ZBTB40 Nonsynonymous SNV N579S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 176723 chr1 247655063 247655063 C T rs542888787 OR2W5 Nonsynonymous SNV L212F 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 5.417 176724 chr1 110167985 110167985 C T AMPD2 Nonsynonymous SNV A51V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 176725 chrX 53641593 53641593 G A rs782206252 HUWE1 Synonymous SNV A721A 0.002 0.003 0 0 2 1 0 0 1 0 0 0 10.52 176726 chr1 111060953 111060953 G A rs41281370 KCNA10 Nonsynonymous SNV R153C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.7 176727 chr11 56143952 56143952 T C rs78408319 OR8U1, OR8U8 Synonymous SNV L285L 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 0.002 176728 chrX 76938837 76938837 C G rs143492266 ATRX Nonsynonymous SNV E599D 0.002 0.003 0 0 2 1 0 0 1 0 0 0 7.779 176729 chr4 2460879 2460879 C T rs777220746 CFAP99 Nonsynonymous SNV A450V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.21 176730 chr11 5663688 5663688 A T rs6578670 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV T276S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.016 176731 chr11 56756565 56756565 G A rs62001001 OR5AK2 Synonymous SNV T59T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.134 176732 chr8 139890531 139890531 G A rs147953143 COL22A1 Synonymous SNV V40V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.81 176733 chr11 57069327 57069327 C A TNKS1BP1 Nonsynonymous SNV G1642V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 176734 chrX 99888467 99888467 G T TSPAN6 Nonsynonymous SNV P86T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 176735 chr11 47611900 47611900 G T C1QTNF4 Nonsynonymous SNV L155I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 176736 chr11 57156681 57156681 T C rs77900153 PRG2 Synonymous SNV E56E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.008 176737 chr11 5758270 5758270 G A rs62617826 OR56B1 Nonsynonymous SNV R175H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.546 176738 chr2 1520674 1520674 G C rs747010460 TPO Synonymous SNV R802R 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Uncertain significance 0.251 176739 chr1 33237892 33237892 T C KIAA1522 Nonsynonymous SNV S979P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 176740 chr11 5862758 5862758 G A rs61737712 OR52E6 Nonsynonymous SNV R124C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 176741 chr8 144921094 144921096 GGT - NRBP2 T235del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 176742 chr8 144921098 144921101 CCAT - NRBP2 D233Gfs*41 0.001 0 0 2 1 0 0.005 0 0 0 0 0 176743 chr11 5862965 5862965 G C rs61739208 OR52E6 Nonsynonymous SNV Q55E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 176744 chr11 5878523 5878523 C T rs112180979 OR52E8 Nonsynonymous SNV R137Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 176745 chr11 58919721 58919721 T A rs148451410 FAM111A Nonsynonymous SNV C194S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.004 176746 chr11 5906437 5906437 G A rs113763081 OR52E4 Synonymous SNV V305V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 176747 chr7 151082358 151082358 C T WDR86 Nonsynonymous SNV G248R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.835 176748 chr11 60215206 60215206 G A rs78873269 MS4A5 Nonsynonymous SNV D193N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.026 176749 chr11 605230 605230 C T rs571475418 PHRF1 Synonymous SNV L422L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 176750 chr11 608959 608959 C T rs74045052 PHRF1 Nonsynonymous SNV S1168L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.96 176751 chr11 61079268 61079268 G A rs28720316 DDB1 Synonymous SNV S755S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 176752 chr7 20784947 20784947 C T ABCB5 Synonymous SNV C660C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.08 176753 chr11 61254009 61254009 T C rs138709668 PPP1R32 Nonsynonymous SNV L234P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 176754 chr2 26534322 26534322 G A rs74962505 ADGRF3 Synonymous SNV L559L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 8.191 176755 chr2 26534345 26534345 G A rs149872767 ADGRF3 Nonsynonymous SNV H552Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27 176756 chr2 26534813 26534813 A G rs111756480 ADGRF3 Nonsynonymous SNV C396R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 176757 chr11 61645743 61645743 C T rs116362087 MIR6746 0 0 0.003 0 0 0 0 1 0 0 0 0 3.224 176758 chr11 61672068 61672068 C T rs115202735 RAB3IL1 Synonymous SNV S257S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 176759 chr11 61724918 61724918 C A rs1805140 BEST1 Synonymous SNV I126I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 19.39 176760 chr11 61730100 61730100 G A rs111326315 BEST1 Nonsynonymous SNV V405I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.13 176761 chr11 61895638 61895638 G T rs1792947 INCENP Nonsynonymous SNV G2V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 176762 chr2 26703734 26703734 C T rs55676840 OTOF Nonsynonymous SNV V575M 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 Benign 23.3 176763 chr11 6190872 6190872 G A rs181824571 OR52B2 Nonsynonymous SNV R229C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 176764 chr7 21913098 21913098 C T rs185794149 DNAH11 Synonymous SNV A4058A 0.003 0 0.007 3 4 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 176765 chr11 6190995 6190995 G A rs142231143 OR52B2 Nonsynonymous SNV R188C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 176766 chr1 156012580 156012580 G A rs184403996 UBQLN4 Synonymous SNV P397P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 14.73 176767 chr11 61916312 61916312 C T rs1792884 INCENP Synonymous SNV D791D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 176768 chr11 6221179 6221179 C T rs74053127 OR52W1 Synonymous SNV A242A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.14 176769 chr1 156348093 156348093 C T rs185277732 RHBG Synonymous SNV F192F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.62 176770 chr11 62655878 62655878 C T rs76688902 SLC3A2 Synonymous SNV L435L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 14.03 176771 chr11 62751069 62751069 C T rs146282438 SLC22A6 Nonsynonymous SNV A190T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 176772 chr11 62760748 62760748 G T rs11568487 SLC22A8 Synonymous SNV I407I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.06 176773 chr11 62763544 62763544 A G rs45438191 SLC22A8 Nonsynonymous SNV V158A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.42 176774 chr7 2617948 2617948 A C rs367734719 IQCE Synonymous SNV R115R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.745 176775 chr11 63174050 63174050 C T rs61997169 SLC22A9 Synonymous SNV L385L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.06 176776 chr11 639525 639525 G C rs369672484 DRD4 Synonymous SNV L126L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 176777 chr4 39863911 39863911 A G rs971410388 PDS5A Nonsynonymous SNV M1005T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.68 176778 chr11 64124537 64124537 C G rs115878644 CCDC88B Nonsynonymous SNV R1468G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 176779 chr11 64544082 64544082 C T rs35100425 SF1 Synonymous SNV K141K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 176780 chr11 6458835 6458835 G C rs36070033 HPX Nonsynonymous SNV R180G 0 0 0.003 0 0 0 0 1 0 0 0 0 25 176781 chr7 29980396 29980396 C G rs777556223 SCRN1 Nonsynonymous SNV W146S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 32 176782 chr11 64677273 64677273 C T rs61746813 ATG2A Nonsynonymous SNV A663T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 176783 chr2 31605868 31605868 G A rs142388231 XDH Nonsynonymous SNV A346V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 176784 chr4 47525122 47525122 G A rs761176128 ATP10D Nonsynonymous SNV M193I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 176785 chr11 64985059 64985059 G A rs113875023 SLC22A20P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.13 176786 chr11 6502753 6502753 C A rs2433315 TIMM10B Synonymous SNV R3R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 176787 chr11 65088498 65088498 T C rs4149835 CDC42EP2 Synonymous SNV I43I 0.003 0 0.003 0 3 0 0 1 1 0 0 0 0.012 176788 chr11 65088648 65088648 G C rs4149836 CDC42EP2 Synonymous SNV G93G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.339 176789 chr11 65088738 65088738 A G rs4149838 CDC42EP2 Synonymous SNV T123T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.46 176790 chr11 65143993 65143993 C T rs7108281 SLC25A45 Nonsynonymous SNV R227Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 176791 chr7 31855674 31855674 G A rs144853377 PDE1C Synonymous SNV G559G 0 0 0 3 0 0 0.008 0 0 0 0 0 12.78 176792 chr11 65168230 65168230 G A rs147753478 FRMD8 Synonymous SNV S265S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 176793 chr11 65267514 65267516 TGG - rs527337210 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 176794 chr11 65268198 65268198 G A rs7927113 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.162 176795 chr11 65270976 65270976 G A rs73497102 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.601 176796 chr11 65271780 65271780 T - rs36002528 MALAT1, TALAM1 0 0 0.054 0 0 0 0 16 0 0 0 0 176797 chr11 6530138 6530138 G A rs2555152 DNHD1 Nonsynonymous SNV D317N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.235 176798 chr11 65348583 65348583 G A rs75062275 EHBP1L1 Nonsynonymous SNV R230Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 176799 chr1 54389583 54389583 T G rs184845070 HSPB11 Nonsynonymous SNV E104D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 176800 chr11 65392954 65392954 C A rs151327127 PCNX3 Synonymous SNV P1036P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.47 176801 chr7 37901644 37901644 C T rs201295247 NME8 Synonymous SNV I95I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.42 176802 chr11 65639463 65639463 G A rs2234457 EFEMP2 Synonymous SNV D46D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.92 176803 chr11 65649780 65649780 A G rs139545276 CTSW Nonsynonymous SNV I141V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.883 176804 chr11 65685317 65685317 G A rs11542177 C11orf68 Synonymous SNV H165H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.087 176805 chr11 65687256 65687256 G A rs149754486 DRAP1 Synonymous SNV R16R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.6 176806 chr1 159410183 159410183 T C rs200283580 OR10J1 Nonsynonymous SNV I201T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 176807 chr1 55280637 55280637 C T rs200876449 LEXM Synonymous SNV P325P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 176808 chr7 3991464 3991464 C T rs139460236 SDK1 Synonymous SNV S354S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 11.7 176809 chr11 66026191 66026191 G A rs11825510 KLC2 Synonymous SNV L42L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.758 176810 chr1 160090708 160090708 T A rs55858252 ATP1A2 Nonsynonymous SNV Y9N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 18.1 176811 chr11 66249898 66249898 G A rs11826683 DPP3 Nonsynonymous SNV R76H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.2 176812 chr11 66618369 66618369 G A rs145400751 PC Nonsynonymous SNV T750M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.99 176813 chr11 66999289 66999289 G A rs202214740 KDM2A Nonsynonymous SNV R446Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 176814 chr11 67075207 67075207 G A rs61731782 SSH3 Nonsynonymous SNV G264R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.81 176815 chr11 67208842 67208842 C T rs547558621 CORO1B Nonsynonymous SNV V200M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 176816 chr11 67254509 67254509 C T rs11822907 AIP Synonymous SNV D44D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.27 176817 chr11 67288595 67288595 G C rs139895134 CABP2 Nonsynonymous SNV R100G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.9 176818 chr4 74315806 74315806 C T rs150964344 AFP Synonymous SNV S415S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.13 176819 chr10 135096617 135096617 T C TUBGCP2 Nonsynonymous SNV M622V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 176820 chr11 6806610 6806610 A G rs74057918 OR2AG1 Synonymous SNV L114L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 5.11 176821 chr11 6806671 6806671 C G rs74057919 OR2AG1 Nonsynonymous SNV L135V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 9.263 176822 chr11 6806816 6806816 A C rs74057920 OR2AG1 Nonsynonymous SNV H183P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.096 176823 chr2 55186257 55186257 C T rs925445892 EML6 Nonsynonymous SNV T1571M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 176824 chr11 6807216 6807216 C T rs74057921 OR2AG1 Synonymous SNV L316L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 6.323 176825 chr11 6816289 6816290 AG - rs71946386 OR6A2 S217Cfs*24 0.002 0 0.007 0 2 0 0 2 0 0 0 0 176826 chr11 68380536 68380536 C T rs150559707 PPP6R3 Nonsynonymous SNV T738I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 176827 chr2 56145394 56145394 A G EFEMP1 Synonymous SNV T30T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.335 176828 chr11 6912922 6912923 TT - rs10566026 OR2D2 K270Ifs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 176829 chr7 4801960 4801960 C T rs538698881 FOXK1 Synonymous SNV T689T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.83 176830 chr11 6913482 6913482 G A rs57896484 OR2D2 Nonsynonymous SNV H84Y 0 0 0.003 0 0 0 0 1 0 0 0 0 17.27 176831 chr2 62110663 62110663 A C CCT4 Nonsynonymous SNV D67E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 176832 chr11 7064551 7064551 G T rs140537839 NLRP14 Nonsynonymous SNV A432S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.4 176833 chr11 7110979 7110979 C A rs748096285 RBMXL2 Synonymous SNV R210R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 176834 chr11 71155929 71155929 C A rs146867923 DHCR7 Nonsynonymous SNV A24S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.06 176835 chr11 71724220 71724220 C T rs35567912 NUMA1 Synonymous SNV A1443A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.86 176836 chr2 70164394 70164394 G A rs377129045 MXD1 Nonsynonymous SNV V106I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.56 176837 chr11 72422155 72422155 G A rs147276782 ARAP1 Nonsynonymous SNV A130V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 176838 chr11 73007626 73007626 C T rs376517250 P2RY6 Synonymous SNV R122R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 176839 chr11 73020633 73020633 G C rs78465712 ARHGEF17 Nonsynonymous SNV S317T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.375 176840 chr4 88401577 88401577 A G rs761469653 SPARCL1 Synonymous SNV Y463Y 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.374 176841 chr11 73759251 73759251 T C rs1632242 C2CD3 Nonsynonymous SNV R1832G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 176842 chr11 73759254 73759254 C A rs1632245 C2CD3 Nonsynonymous SNV G1831W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.3 176843 chr11 73796683 73796683 T C rs1095423 C2CD3 Nonsynonymous SNV Y1297C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 176844 chr2 71351612 71351612 G C rs146573280 MCEE Synonymous SNV P34P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.071 176845 chr11 74204479 74204479 G T rs533747475 LIPT2 Synonymous SNV T90T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.444 176846 chr11 74417535 74417535 C A rs139257885 CHRDL2 Synonymous SNV G128G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 176847 chr11 74422014 74422014 G A rs113028159 CHRDL2 Synonymous SNV L39L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.679 176848 chr11 74717489 74717489 G A rs7113716 NEU3 Synonymous SNV G446G 0 0 0.007 0 0 0 0 2 0 0 0 0 4.448 176849 chr11 74800600 74800600 G A rs11236324 OR2AT4 Synonymous SNV A53A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.565 176850 chr1 86939117 86939117 A T rs137892655 CLCA1 Synonymous SNV A60A 0.003 0 0 0 3 0 0 0 0 0 0 0 2.887 176851 chr11 7530788 7530788 G A rs78352326 OLFML1 Nonsynonymous SNV R57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 176852 chr11 75431049 75431049 C T rs35828061 MOGAT2 Nonsynonymous SNV T35I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.002 176853 chr11 75902685 75902685 C T rs111832264 WNT11 Synonymous SNV S271S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.354 176854 chr11 76507282 76507282 C T rs3740772 TSKU Nonsynonymous SNV R208C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 176855 chr11 5653685 5653685 A G TRIM34, TRIM6-TRIM34 Nonsynonymous SNV S42G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.63 176856 chr11 76901179 76901179 C T rs569293775 MYO7A Synonymous SNV L1249L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 176857 chr4 100574890 100574890 C A rs186499567 C4orf54 Stop gain E306X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 38 176858 chr11 7712602 7712602 G C rs185446822 OVCH2 Nonsynonymous SNV P513A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 176859 chr2 75720364 75720364 A T rs992412610 EVA1A X153K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.19 176860 chr11 77690119 77690119 C T rs61736152 INTS4 Nonsynonymous SNV D132N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 176861 chr11 77728243 77728243 G A rs373768210 KCTD14 Nonsynonymous SNV P55L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 176862 chr11 77920822 77920822 C G rs73507299 USP35 Nonsynonymous SNV R641G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.1 176863 chr11 77921727 77921727 A G rs201712493 USP35 Synonymous SNV T942T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 176864 chr11 7818137 7818137 C T rs115188826 OR5P2 Nonsynonymous SNV R118H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 28.6 176865 chr11 78277268 78277268 T C rs112949973 NARS2 Synonymous SNV Q141Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.079 176866 chr11 78600967 78600967 C T rs267603209 TENM4 Nonsynonymous SNV R316Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 176867 chr11 70319373 70319373 C T rs140134890 SHANK2 Nonsynonymous SNV M1129I 0 0.01 0 0 0 4 0 0 0 0 0 0 Benign/Likely benign 10.06 176868 chr11 797935 797935 C G rs112301644 PANO1 Nonsynonymous SNV R104G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.208 176869 chr4 113352194 113352194 A G rs201649942 ALPK1 Nonsynonymous SNV I419M 0 0 0 2 0 0 0.005 0 0 0 0 0 13.36 176870 chr11 7981854 7981854 T A rs113717245 NLRP10 Nonsynonymous SNV K435N 0 0 0.007 0 0 0 0 2 0 0 0 0 1.985 176871 chr11 7982542 7982542 A T rs112986837 NLRP10 Nonsynonymous SNV V206E 0 0 0.007 0 0 0 0 2 0 0 0 0 25.4 176872 chr11 7985014 7985014 C T rs113204543 NLRP10 Nonsynonymous SNV R10Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.02 176873 chr11 7985027 7985027 C A rs113573836 NLRP10 Nonsynonymous SNV A6S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.189 176874 chr11 799358 799358 G C rs11820580 PIDD1 Synonymous SNV P894P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 4.583 176875 chr11 800556 800556 G A rs7111855 PIDD1 Synonymous SNV I676I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 7.691 176876 chr11 802270 802270 G A rs61748609 PIDD1 Synonymous SNV L367L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 8.905 176877 chr2 86257382 86257382 G A rs200374085 POLR1A Synonymous SNV N1572N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.512 176878 chr11 804366 804366 G A rs61748610 PIDD1 Nonsynonymous SNV P8L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.005 176879 chr11 71951159 71951159 - GCGCCCGCC rs775605146 PHOX2A A163_K164insAGA 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 176880 chr11 824794 824794 G - PNPLA2 P484Lfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 176881 chr11 824795 824795 G T PNPLA2 Nonsynonymous SNV G483V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 176882 chr11 61895644 61895644 C T rs779937744 INCENP Nonsynonymous SNV T4M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 176883 chr11 83497809 83497809 T A rs35062128 DLG2 Synonymous SNV A375A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.39 176884 chr11 850349 850349 C T TSPAN4 Synonymous SNV A15A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 176885 chr11 85435357 85435357 G T rs73502601 SYTL2 Nonsynonymous SNV P1682T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 176886 chr11 85438932 85438932 G A rs61736736 SYTL2 Nonsynonymous SNV P490L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.24 176887 chr11 5862737 5862737 G A rs769283446 OR52E6 Nonsynonymous SNV P131S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 176888 chr11 86123573 86123573 C A rs34903369 CCDC81 Nonsynonymous SNV R365S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 176889 chr11 62292464 62292464 T C rs142407818 AHNAK Nonsynonymous SNV Q3142R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.296 176890 chr1 201175918 201175918 - C rs536698563 IGFN1 Frameshift insertion D633Afs*5 0.001 0 0.003 0 1 0 0 1 0 0 0 0 176891 chr11 62300591 62300591 T C rs150917737 AHNAK Nonsynonymous SNV K433R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 176892 chr11 88338113 88338113 T C rs2306153 GRM5 Synonymous SNV T389T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.326 176893 chr11 88911235 88911235 G A rs1939261 TYR Synonymous SNV P38P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.339 176894 chr11 62374525 62374525 T C rs138237088 EML3 Nonsynonymous SNV D471G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 176895 chr11 88911299 88911299 C T rs1939260 TYR Synonymous SNV L60L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.989 176896 chr11 8942889 8942890 AT - rs10583719 C11orf16 I459Mfs*11 0.002 0 0.003 0 2 0 0 1 0 0 0 0 176897 chr11 8948615 8948615 G A rs2568076 C11orf16 Nonsynonymous SNV P144L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 7.784 176898 chr11 9200618 9200618 C T rs77123250 DENND5A Synonymous SNV L462L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 11.7 176899 chr11 62598671 62598671 A G rs79941543 STX5 Synonymous SNV G15G 0.005 0 0 0 6 0 0 0 0 0 0 0 3.361 176900 chr1 109261534 109261534 G A rs61747960 FNDC7 Nonsynonymous SNV S154N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.822 176901 chr11 93819264 93819264 G C rs375655562 HEPHL1 Synonymous SNV G663G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.023 176902 chr11 93844205 93844205 C T rs200181531 HEPHL1 Nonsynonymous SNV T1061I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 176903 chr11 94353172 94353172 T C rs16920720 PIWIL4 Synonymous SNV F768F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.197 176904 chr11 94597915 94597915 C T rs192023702 AMOTL1 Synonymous SNV I667I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 176905 chr11 94731601 94731601 C G rs35631512 KDM4D Nonsynonymous SNV S355R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.443 176906 chr11 94731947 94731947 G T rs34366036 KDM4D Nonsynonymous SNV A471S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.715 176907 chr11 64024117 64024117 G A rs764785826 PLCB3 Nonsynonymous SNV R231H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 176908 chr12 100452062 100452062 T C rs75201755 UHRF1BP1L Nonsynonymous SNV D998G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 176909 chr12 100657491 100657491 T C rs57450214 DEPDC4 Nonsynonymous SNV N113S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 176910 chr12 100795589 100795589 G A rs11568542 SLC17A8 Synonymous SNV L237L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 7.615 176911 chr12 100897216 100897216 C T rs17030240 NR1H4 Synonymous SNV H17H 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 2.999 176912 chr12 100897231 100897231 G A rs17030242 NR1H4 Synonymous SNV P22P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 6.129 176913 chr12 101017965 101017965 T C rs11834625 GAS2L3 Nonsynonymous SNV L461S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.682 176914 chr11 61548483 61548483 G A rs533365265 MYRF Synonymous SNV T811T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.89 176915 chr11 64323656 64323656 C G rs200043601 SLC22A11 Nonsynonymous SNV T62R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 176916 chr7 92734352 92734352 C T rs145911444 SAMD9 Synonymous SNV T353T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.045 176917 chr12 10205332 10205332 G A rs78551705 CLEC9A Nonsynonymous SNV A16T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 176918 chr2 109104262 109104262 C T rs759353170 GCC2 Synonymous SNV G1346G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 176919 chr7 92844850 92844850 G A HEPACAM2 Synonymous SNV S181S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.08 176920 chr1 111991768 111991768 G C rs11548427 WDR77 Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.659 176921 chr2 109403311 109403311 G C rs138848875 CCDC138 Nonsynonymous SNV Q11H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 176922 chr12 10218115 10218115 T C rs144687538 CLEC9A Nonsynonymous SNV S204P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.647 176923 chr11 64597280 64597280 C T rs564647973 CDC42BPG Synonymous SNV P1210P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 176924 chr11 64601275 64601277 CTC - rs773875291 CDC42BPG G833del 0.001 0 0 0 1 0 0 0 0 0 0 0 176925 chr12 103352211 103352211 G C rs376318467 ASCL1 Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 176926 chr11 82878608 82878608 A C PCF11 Nonsynonymous SNV K718T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.72 176927 chr12 103988285 103988285 A G rs17034186 STAB2 Nonsynonymous SNV I110V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 176928 chr12 104092943 104092943 A G rs114943540 STAB2 Nonsynonymous SNV M1218V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 176929 chr2 112786271 112786271 G A rs572549911 MERTK Nonsynonymous SNV A944T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.13 176930 chr12 104309376 104309376 T C TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.227 176931 chr1 116580003 116580005 AAG - SLC22A15 K390del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 176932 chr12 10746387 10746387 T A rs76707042 KLRA1P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.166 176933 chr12 10749575 10749575 A G rs1124164 KLRA1P 0 0 0.01 0 0 0 0 3 0 0 1 0 10.69 176934 chr9 116840414 116840414 G A AMBP Nonsynonymous SNV P26S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 176935 chr12 10783830 10783830 C T rs147503302 STYK1 Nonsynonymous SNV E89K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 176936 chr11 62554084 62554084 G C rs141021906 TAF6L Synonymous SNV L395L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.02 176937 chr12 109527942 109527942 G A rs35173433 ALKBH2 Synonymous SNV D117D 0.002 0 0.01 0 2 0 0 3 0 0 0 0 3.776 176938 chr12 10954382 10954382 G A rs11838055 TAS2R7 Nonsynonymous SNV T263M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.39 176939 chr12 109577465 109577465 C T rs11065655 ACACB Synonymous SNV A85A 0.001 0 0.014 0 1 0 0 4 0 0 0 0 11.23 176940 chr12 109660694 109660694 C G rs146002202 ACACB Nonsynonymous SNV Q1257E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.49 176941 chr10 71164742 71164742 G A rs149349610 TACR2 Nonsynonymous SNV T346M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.853 176942 chr1 144931448 144931448 A T rs371439540 PDE4DIP Nonsynonymous SNV D87E 0.003 0 0 0 3 0 0 0 0 0 0 0 13.22 176943 chr12 109671838 109671838 C T rs115320291 ACACB Synonymous SNV F1445F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.8 176944 chr10 71175837 71175837 G A rs776958075 TACR2 Synonymous SNV C81C 0.009 0.003 0 3 10 1 0.008 0 0 0 0 0 6.749 176945 chr12 109826535 109826535 G A rs61742038 MYO1H Synonymous SNV A4A 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 14.59 176946 chr1 216040405 216040405 T C rs778607993 USH2A Nonsynonymous SNV N2930S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 176947 chr12 110006577 110006577 A G rs62000414 MMAB Synonymous SNV I96I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 14.17 176948 chr12 110346398 110346398 A G rs141026601 TCHP Nonsynonymous SNV K236R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 176949 chr12 110426798 110426798 G A rs61754619 GIT2 Synonymous SNV D125D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.88 176950 chr4 177041219 177041219 T C rs762060959 WDR17 Nonsynonymous SNV I170T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.445 176951 chr12 110825591 110825591 A G rs61754907 ANAPC7 Synonymous SNV Y243Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 176952 chr12 110960041 110960041 T C rs143029596 RAD9B Nonsynonymous SNV I120T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 176953 chr12 11139136 11139136 G T rs113264845 TAS2R50 Synonymous SNV L108L 0 0 0.007 0 0 0 0 2 0 0 0 0 3.498 176954 chr1 220809333 220809333 G - MARK1 P458Qfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 176955 chr12 112338204 112338204 C T rs11066072 ADAM1A 0 0 0.007 0 0 0 0 2 0 0 1 0 7.594 176956 chr11 64559847 64559847 T C rs147023707 MAP4K2 Nonsynonymous SNV Q592R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.53 176957 chr12 113388530 113388530 G A rs7307875 OAS3 Synonymous SNV R469R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.122 176958 chr12 113405785 113405785 C T rs878740 OAS3 Synonymous SNV H970H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.412 176959 chr12 116446628 116446628 G A rs114269768 MED13L Synonymous SNV A530A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.97 176960 chr4 187005904 187005904 C T rs200609786 TLR3 Synonymous SNV L864L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.59 176961 chr12 117583985 117583985 T C rs78022921 FBXO21 Synonymous SNV A591A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.683 176962 chr12 118480721 118480721 T C rs115911603 WSB2 Nonsynonymous SNV T179A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.382 176963 chr12 118520149 118520149 C T rs116220818 VSIG10 Synonymous SNV V149V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.54 176964 chr12 119568586 119568586 C T rs113443008 SRRM4 Nonsynonymous SNV R240C 0 0 0.014 0 0 0 0 4 0 0 1 0 22.9 176965 chr12 119631654 119631654 C T rs4628742 HSPB8 Synonymous SNV T194T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 12 176966 chr12 12022536 12022536 G A rs72550786 ETV6 Synonymous SNV P214P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.042 176967 chr12 120295438 120295438 A T rs781286149 CIT Nonsynonymous SNV S101R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 176968 chr12 120582614 120582614 C T rs60836763 GCN1 Synonymous SNV L1727L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 176969 chr12 120585993 120585993 A G rs60583316 GCN1 Synonymous SNV V1568V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.601 176970 chr4 189012660 189012660 T C rs148656432 TRIML2 Nonsynonymous SNV N419S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.001 176971 chr1 153651872 153651872 A G rs764197500 NPR1 Synonymous SNV A96A 0.003 0 0 0 4 0 0 0 0 0 0 0 9.598 176972 chr12 105546171 105546171 A C rs202242349 WASHC4 Synonymous SNV G901G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.728 176973 chr12 121622115 121622115 C T rs28360459 P2RX7 Nonsynonymous SNV A433V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.949 176974 chr1 228004982 228004982 G - PRSS38 Q128Hfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 176975 chr12 121691130 121691130 G A rs56131600 CAMKK2 Synonymous SNV P351P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 13.81 176976 chr12 121867932 121867932 A G rs57141761 KDM2B Nonsynonymous SNV L1262S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.262 176977 chr12 122257321 122257321 A G rs201286518 SETD1B Nonsynonymous SNV S1144G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 176978 chr12 122337698 122337698 C T rs1177573 PSMD9 Nonsynonymous SNV R134W 0.001 0 0.007 0 1 0 0 2 0 0 1 0 27.5 176979 chr1 154842199 154842199 - GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQQQQQQQQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 176980 chr12 122691264 122691264 G T rs142538376 B3GNT4 Nonsynonymous SNV V131L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 176981 chr12 123019262 123019262 A G rs139484580 KNTC1 Nonsynonymous SNV I61V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 176982 chr12 12332842 12332842 C T rs7975614 LRP6 Nonsynonymous SNV V483I 0 0 0.007 0 0 0 0 2 0 0 1 0 22.8 176983 chr12 123466304 123466304 A G rs74758272 ARL6IP4 Nonsynonymous SNV K292R 0.006 0 0.01 0 7 0 0 3 0 0 1 0 18.51 176984 chr12 123471944 123471944 G A rs148767753 PITPNM2 Synonymous SNV T1093T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 176985 chr11 6568834 6568834 G A rs187136087 DNHD1 Nonsynonymous SNV R2222H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 176986 chr1 228559103 228559103 A T OBSCN Nonsynonymous SNV Y6875F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 176987 chr12 124796396 124796396 G A rs112604005 RFLNA Synonymous SNV S80S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.368 176988 chr2 168104376 168104376 C T rs374073410 XIRP2 Synonymous SNV S1936S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.403 176989 chr8 135614387 135614387 G A rs747583926 ZFAT Synonymous SNV L463L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 176990 chr12 126135481 126135481 G A rs73420208 TMEM132B Synonymous SNV P139P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 176991 chr5 16668390 16668390 C G rs77404051 MYO10 Nonsynonymous SNV S2024T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 18.13 176992 chr12 129154041 129154041 A G rs150833144 TMEM132C Nonsynonymous SNV N462S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.057 176993 chr1 156639964 156639964 G T NES Nonsynonymous SNV S1339Y 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 176994 chr1 235338525 235338525 T C rs200039195 ARID4B Nonsynonymous SNV K1127R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 176995 chr12 131293247 131293247 T C rs76596600 STX2 Nonsynonymous SNV I95V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.08 176996 chr12 131476904 131476904 C T rs7978965 ADGRD1 Synonymous SNV S311S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.815 176997 chr12 131561394 131561394 G A rs11833801 ADGRD1 Nonsynonymous SNV V508M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.66 176998 chr11 75508317 75508317 G A rs151179593 DGAT2 Nonsynonymous SNV G207D 0.004 0 0 0 5 0 0 0 0 0 0 0 29.9 176999 chr12 131623730 131623730 A C rs7303435 ADGRD1 Synonymous SNV P849P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.151 177000 chr12 131623786 131623786 G A rs61740366 ADGRD1 Nonsynonymous SNV R868H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 177001 chr12 131692377 131692377 G A rs534752814 LINC01257 0 0 0.003 0 0 0 0 1 0 0 0 0 0.218 177002 chr12 13211422 13211422 T C rs62636617 FAM234B Synonymous SNV N157N 0 0 0.007 0 0 0 0 2 0 0 0 0 6.508 177003 chr12 132404110 132404110 C T rs113954208 ULK1 Synonymous SNV L926L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.72 177004 chr12 132512776 132512776 G T rs113902407 EP400 Nonsynonymous SNV S1775I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 177005 chr12 132624424 132624424 T C rs61729149 DDX51 Synonymous SNV T607T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 177006 chr12 132632275 132632275 C G rs112840884 NOC4L Nonsynonymous SNV T184S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.691 177007 chr12 132852952 132852952 G A rs57184674 LOC100130238 0 0 0.007 0 0 0 0 2 0 0 0 0 0.713 177008 chr12 132854005 132854005 G A rs73473507 LOC100130238 0 0 0.007 0 0 0 0 2 0 0 0 0 6.306 177009 chr12 132854025 132854025 G A rs111593219 LOC100130238 0 0 0.003 0 0 0 0 1 0 0 0 0 1.929 177010 chr12 132854032 132854032 G A rs116701242 LOC100130238 0 0 0.003 0 0 0 0 1 0 0 0 0 4.842 177011 chr12 133153456 133153456 G A rs116764290 FBRSL1 Synonymous SNV P634P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.625 177012 chr12 133158607 133158610 CAGA - rs369363517 MIR6763 0 0.005 0.003 0 0 2 0 1 0 0 0 0 177013 chr12 133360724 133360724 C T rs116793665 GOLGA3 Nonsynonymous SNV R1098Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.715 177014 chr12 120894952 120894952 G A rs773613181 GATC Nonsynonymous SNV V110I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.704 177015 chr5 35871277 35871277 G A IL7R Nonsynonymous SNV V167I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 177016 chr12 133698496 133698496 A - rs146760373 ZNF891 M4Wfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 177017 chr11 6977695 6977695 G T rs151165650 ZNF215 Nonsynonymous SNV S258I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 177018 chr5 36679942 36679942 C T rs147973032 SLC1A3 Synonymous SNV T246T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 14.21 177019 chr2 179442784 179442784 C G rs72646880 TTN Nonsynonymous SNV A13755P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 177020 chr12 133779815 133779815 C T rs62644539 ZNF268 Nonsynonymous SNV L515F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 177021 chr12 13526305 13526305 T C rs7308685 LINC01559 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 177022 chr5 38427232 38427232 C T rs145112449 EGFLAM Synonymous SNV D410D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.013 177023 chr5 38463082 38463082 G A EGFLAM Synonymous SNV R91R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.3 177024 chr12 14778744 14778744 C G rs55708355 GUCY2C Synonymous SNV L785L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.67 177025 chr12 14781669 14781669 C T rs7956595 GUCY2C Synonymous SNV V720V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.49 177026 chr12 14946669 14946671 CTT - rs569165940 WBP11 K303del 0 0 0.003 0 0 0 0 1 0 0 0 0 177027 chr12 16430341 16430341 G C rs77794612 SLC15A5 Synonymous SNV T93T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.41 177028 chr12 18238617 18238620 ATAG - rs367672198 RERGL Y40Rfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 177029 chr12 1965221 1965221 C G rs77175207 CACNA2D4 Nonsynonymous SNV E703D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.91 177030 chr12 1989025 1989025 C T rs77736644 CACNA2D4 Nonsynonymous SNV S503N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.4 177031 chr8 144681779 144681779 G A rs774861731 TIGD5 Nonsynonymous SNV G569E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.371 177032 chr12 1995470 1995470 C T rs74699105 CACNA2D4 Synonymous SNV G304G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.06 177033 chr12 123003521 123003521 T C rs17886684 RSRC2 Nonsynonymous SNV H88R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.49 177034 chr12 123470790 123470790 G A rs565193458 PITPNM2 Synonymous SNV F1272F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.061 177035 chr12 21689933 21689933 G A rs7954038 GYS2 Synonymous SNV H689H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 6.955 177036 chr12 21699363 21699363 T C rs35403985 GYS2 Synonymous SNV L488L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.162 177037 chr12 21733299 21733299 C T rs34225615 GYS2 Nonsynonymous SNV A94T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.218 177038 chr12 124246890 124246890 G T DNAH10 Nonsynonymous SNV D3Y 0 0.003 0 0 0 1 0 0 0 0 0 0 18.58 177039 chr12 250128 250128 C A rs76971010 LOC574538 0 0 0.003 0 0 0 0 1 0 0 0 0 2.15 177040 chr12 25232372 25232372 A G rs6487451 LRMP Nonsynonymous SNV T38A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 177041 chr1 247921110 247921110 A G OR1C1 Nonsynonymous SNV F200S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 177042 chr12 26639155 26639155 G A rs2230382 ITPR2 Nonsynonymous SNV A1898V 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 11.86 177043 chr12 2676859 2676859 C T rs116491041 CACNA1C Synonymous SNV G598G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.33 177044 chr12 26816660 26816660 G A rs61732724 ITPR2 Synonymous SNV Y557Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.766 177045 chr12 125509554 125509554 T G rs149696895 BRI3BP Nonsynonymous SNV Y112D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 177046 chr9 139564392 139564392 G A rs61736886 EGFL7 Nonsynonymous SNV G114R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 31 177047 chr12 27849513 27849513 G A rs74074228 REP15 Synonymous SNV S6S 0 0 0.007 2 0 0 0.005 2 0 0 1 0 8.748 177048 chr9 139568309 139568309 G A rs200288462 AGPAT2 Synonymous SNV L212L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 8.85 177049 chr12 27863792 27863792 C A rs35475802 MRPS35 Nonsynonymous SNV L6I 0 0 0.01 2 0 0 0.005 3 0 0 1 0 Benign 2.882 177050 chr12 2788878 2788878 C T rs192749597 CACNA1C Nonsynonymous SNV T1795M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.98 177051 chr12 29625968 29625968 G C rs35183403 OVCH1 Nonsynonymous SNV L592V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 177052 chr12 29630386 29630386 A G rs16934306 OVCH1 Synonymous SNV P413P 0.001 0.003 0.014 1 1 1 0.003 4 0 0 1 0 0.044 177053 chr12 29670438 29670438 G A rs139753562 TMTC1 Synonymous SNV G697G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 177054 chr12 29920945 29920945 G A rs16934884 TMTC1 Synonymous SNV H122H 0.002 0.008 0.007 4 2 3 0.01 2 0 0 0 0 Benign 0.715 177055 chr12 3049867 3049867 C T rs3944066 TULP3 Nonsynonymous SNV P494L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.1 177056 chr11 93431918 93431918 T C rs769607748 CEP295 Synonymous SNV N1280N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.02 177057 chr11 93540713 93540713 T G MED17 Nonsynonymous SNV V499G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 177058 chr9 140056880 140056880 C T rs369596145 GRIN1 Synonymous SNV N592N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.89 177059 chr12 33535395 33535395 G C rs35190376 SYT10 Nonsynonymous SNV T420S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.08 177060 chr12 33579213 33579213 G A rs11832759 SYT10 Synonymous SNV A123A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.75 177061 chr1 171289000 171289000 G A rs776556270 FMO4 Synonymous SNV V12V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.67 177062 chr5 70945029 70945029 T C rs139852818 MCCC2 Nonsynonymous SNV I403T 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 24 177063 chr12 40924858 40924858 G A rs78670954 MUC19 0 0 0.003 0 0 0 0 1 0 0 0 0 5.945 177064 chr12 133682991 133682991 G A rs779753365 ZNF140 Synonymous SNV T273T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.53 177065 chr2 203949273 203949273 G A rs758614383 NBEAL1 Nonsynonymous SNV R360Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 177066 chr12 431659 431659 G A KDM5A Nonsynonymous SNV L784F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 177067 chr8 145637975 145637975 C T rs148477092 SLC39A4 Nonsynonymous SNV G133S 0 0 0 1 0 0 0.003 0 0 0 0 0 35 177068 chr12 43826248 43826248 C T rs141562333 ADAMTS20 Synonymous SNV G985G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.58 177069 chr12 43826590 43826590 T A rs36046156 ADAMTS20 Nonsynonymous SNV E915D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.53 177070 chr12 45270452 45270452 G A rs74912209 NELL2 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.534 177071 chr11 8132302 8132302 G A rs17852022 RIC3 Synonymous SNV T169T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.55 177072 chr12 45695828 45695828 C T rs7299561 ANO6 Synonymous SNV P34P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.53 177073 chr12 45741847 45741847 G A rs2162321 ANO6 Nonsynonymous SNV A128T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 24.3 177074 chr12 46245077 46245077 G A rs7296694 ARID2 Synonymous SNV S1057S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.55 177075 chr12 46321417 46321417 G A rs11574971 SCAF11 Synonymous SNV T689T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.379 177076 chr2 207395621 207395621 T C rs1050071401 ADAM23 Synonymous SNV S174S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.458 177077 chr12 48075597 48075597 A G rs36123489 RPAP3 Synonymous SNV Y173Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.999 177078 chr12 48110150 48110150 G A rs61734364 ENDOU Synonymous SNV D165D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.339 177079 chr12 48134768 48134768 A T rs80097705 RAPGEF3 Nonsynonymous SNV L618Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.74 177080 chr12 48141333 48141333 C T rs61709815 RAPGEF3 Nonsynonymous SNV C475Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.032 177081 chr12 48185449 48185449 G A rs73291234 HDAC7 Nonsynonymous SNV S581L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 177082 chr12 18237473 18237473 G C rs533844786 RERGL Nonsynonymous SNV P104A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 177083 chr12 48251305 48251305 G A rs2229828 VDR Synonymous SNV S148S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.53 177084 chr12 48272849 48272849 A G rs11832059 VDR Synonymous SNV F16F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.642 177085 chr12 48372444 48372444 G A rs140368756 COL2A1 Nonsynonymous SNV P875L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.06 177086 chr5 75960968 75960968 G C rs34968964 IQGAP2 Nonsynonymous SNV E379Q 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 24.1 177087 chr12 49225870 49225870 C T rs74549209 DDX23 Synonymous SNV E685E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.55 177088 chr12 49315186 49315186 G A rs80052257 CCDC65 Nonsynonymous SNV R329H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.65 177089 chr2 211319884 211319884 A G rs754243754 LANCL1 Synonymous SNV A118A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.437 177090 chr12 49412370 49412370 G A rs77879432 DDN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.278 177091 chr12 49412462 49412462 G C rs114080667 DDN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.61 177092 chr12 49422857 49422857 C T rs75340924 KMT2D Synonymous SNV R4746R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.1 177093 chr12 49878411 49878411 G A rs61733031 SPATS2 Nonsynonymous SNV V22I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 30 177094 chr12 49943956 49943956 C T KCNH3 Nonsynonymous SNV R528C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 177095 chr12 49994142 49994142 C T rs76092719 FAM186B Synonymous SNV K427K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.84 177096 chr12 49994658 49994658 C G rs74086906 FAM186B Nonsynonymous SNV R255S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.99 177097 chr12 50471109 50471109 C T rs61731226 ASIC1 Synonymous SNV I258I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.88 177098 chr2 17697628 17697628 A G rs759608648 RAD51AP2 Synonymous SNV Y685Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 177099 chr2 17961920 17961920 C T rs374176559 GEN1 Nonsynonymous SNV P481S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.661 177100 chr9 34556383 34556383 C T rs781055922 CNTFR Nonsynonymous SNV R213Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 177101 chr12 51639899 51639899 A G rs114378235 DAZAP2, SMAGP Nonsynonymous SNV N145D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.353 177102 chr5 82833704 82833704 G A rs746071223 VCAN Nonsynonymous SNV V641I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 8.449 177103 chr12 51890899 51890899 G A rs149950424 SLC4A8 Synonymous SNV K1024K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 177104 chr2 219884332 219884332 G A rs145661891 CFAP65 Synonymous SNV T1123T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 177105 chr1 186375340 186375340 G A rs201764660 ODR4 Nonsynonymous SNV E353K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 33 177106 chr9 37783966 37783966 G C rs778372165 EXOSC3 Nonsynonymous SNV S140C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.4 177107 chr12 52966437 52966437 C T rs114405517 KRT74 Synonymous SNV E162E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 177108 chr12 53233610 53233610 C T rs149571950 KRT78 Synonymous SNV T292T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 177109 chr12 53242695 53242695 C T rs114041054 KRT78 Nonsynonymous SNV R7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.1 177110 chr5 98106381 98106381 A C rs758947840 RGMB-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 13.7 177111 chr2 226447306 226447306 G A rs9917362 NYAP2 Synonymous SNV A391A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.124 177112 chr2 226447507 226447507 C T rs9917363 NYAP2 Synonymous SNV D458D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.19 177113 chr12 53439026 53439029 ACTT - rs200461801 LOC283335 0 0 0.01 0 0 0 0 3 0 0 0 0 177114 chr12 53594174 53594174 C T rs149181803 ITGB7 Synonymous SNV E18E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 177115 chr12 53676181 53676181 A G rs73309511 ESPL1 Nonsynonymous SNV N918S 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Benign 0.002 177116 chr12 53680505 53680505 C A rs35874650 ESPL1 Nonsynonymous SNV R1329S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.729 177117 chr9 73213424 73213424 C T rs760896360 TRPM3 Nonsynonymous SNV V965M 0.001 0 0 0 1 0 0 0 0 0 0 0 30 177118 chr12 120660780 120660780 C T rs78768932 PXN Nonsynonymous SNV A127T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.2 177119 chr12 54118992 54118992 C T rs78731604 CALCOCO1 Nonsynonymous SNV R12H 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 25.9 177120 chr12 54765486 54765486 A G rs116062585 ZNF385A Synonymous SNV N125N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.518 177121 chr8 37720596 37720596 C T rs149837227 RAB11FIP1 Synonymous SNV A589A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 11.88 177122 chr12 55688454 55688454 G C rs75303496 OR6C6 Nonsynonymous SNV T188R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 177123 chr5 112403792 112403792 C G MCC Nonsynonymous SNV V482L 0 0 0 1 0 0 0.003 0 0 0 0 0 22 177124 chr5 112403796 112403796 C G MCC Synonymous SNV A480A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.53 177125 chr5 112403800 112403800 G C MCC Nonsynonymous SNV A479G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 177126 chr12 55794378 55794378 A G rs79807163 OR6C65 Synonymous SNV Q22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 177127 chr12 55794394 55794396 TTT - rs140528200 OR6C65 F28del 0 0 0.003 0 0 0 0 1 0 0 0 0 177128 chr5 112824048 112824048 - GCCGCTGCCGCTGCC MCC G21_S22insGSGSG 0 0.003 0 2 0 1 0.005 0 0 0 0 0 177129 chr12 55820104 55820104 G A rs74092309 OR6C76 Nonsynonymous SNV V23I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 177130 chr12 55820194 55820194 C T rs74092310 OR6C76 Synonymous SNV L53L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.705 177131 chr12 55820902 55820902 - T rs397820210 OR6C76 Frameshift insertion R290Kfs*10 0 0 0.007 0 0 0 0 2 0 0 0 0 177132 chr12 55846890 55846890 C T rs74092333 OR6C2 Nonsynonymous SNV A298V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 177133 chr12 55968284 55968284 T C rs62624967 OR2AP1 Nonsynonymous SNV L29P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 177134 chr2 232790373 232790373 C T NPPC Nonsynonymous SNV G48D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 177135 chr12 122380513 122380513 G A rs140977068 WDR66 Nonsynonymous SNV A358T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 22.3 177136 chr2 233323030 233323030 C T rs142420344 ALPI Synonymous SNV S365S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.63 177137 chr12 56514995 56514995 C T rs374457746 ZC3H10 Nonsynonymous SNV P217S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.412 177138 chr12 56628760 56628760 T C rs78527682 SLC39A5 Synonymous SNV D208D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 177139 chr12 56629034 56629034 G A rs114552970 SLC39A5 Nonsynonymous SNV R243Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.4 177140 chr12 50192199 50192199 G T rs370876283 NCKAP5L Synonymous SNV P133P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.508 177141 chr12 56994539 56994539 C T rs74374785 BAZ2A Nonsynonymous SNV E1510K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 177142 chr12 57113845 57113845 G C rs11834498 NACA Nonsynonymous SNV P490R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.1 177143 chr12 57389536 57389536 G A rs61740222 GPR182 Synonymous SNV S181S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.637 177144 chr12 58002434 58002434 C T rs371515552 DTX3 Synonymous SNV I297I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 177145 chr2 44116928 44116928 C T rs373807582 LRPPRC Nonsynonymous SNV R1358H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 177146 chr12 125626697 125626697 C T rs759993261 AACS Nonsynonymous SNV R580C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 177147 chr12 59206213 59206213 C T rs77060180 LOC100506869 0 0 0.007 0 0 0 0 2 0 0 0 0 12.68 177148 chr12 120156104 120156104 T C rs200875509 CIT Nonsynonymous SNV M1330V 0.004 0 0.003 0 5 0 0 1 0 0 0 0 10.09 177149 chr12 6166215 6166215 C T rs141777100 VWF Nonsynonymous SNV A585T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 177150 chr12 62895453 62895453 A G rs775989753 MON2 Nonsynonymous SNV N255S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 177151 chr12 63195739 63195739 T G rs144982343 PPM1H Nonsynonymous SNV T205P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.1 177152 chr12 63544326 63544326 G A rs2228153 AVPR1A Synonymous SNV D97D 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 9.81 177153 chr12 6499296 6499296 G A rs35681405 LTBR Nonsynonymous SNV V255I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.33 177154 chr12 65564238 65564238 C G rs144086377 LEMD3 Nonsynonymous SNV R288G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 177155 chr12 65857030 65857030 G A rs35393316 MSRB3 Synonymous SNV A169A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.44 177156 chr12 66275235 66275235 - A rs145784257 HMGA2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 177157 chr12 6635478 6635478 C T rs73259178 NCAPD2 Nonsynonymous SNV P836L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 177158 chr12 121701732 121701732 T C rs56060597 CAMKK2 Synonymous SNV P212P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.038 177159 chr12 6666692 6666692 G A rs764729466 NOP2 Synonymous SNV L632L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.03 177160 chr12 66704168 66704168 G A rs116424321 HELB Nonsynonymous SNV R487H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.682 177161 chr2 61415162 61415165 AAAT - rs966628459 AHSA2P 0.002 0 0 0 2 0 0 0 0 0 0 0 177162 chr12 67197910 67197910 C G rs113155980 GRIP1 Nonsynonymous SNV G19A 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 177163 chr12 67706544 67706544 G A rs61729340 CAND1 Synonymous SNV A1209A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.443 177164 chr12 6858036 6858036 C T rs75658826 MLF2 Synonymous SNV A224A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.29 177165 chr2 63101587 63101587 C G rs150973298 EHBP1 Nonsynonymous SNV P369A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 177166 chr12 6926401 6926401 G A rs34435605 CD4 Nonsynonymous SNV R175Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 177167 chr12 6926420 6926420 G A rs34841304 CD4 Synonymous SNV V181V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.774 177168 chr5 139189116 139189116 C T rs375011195 PSD2 Nonsynonymous SNV R31W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 177169 chr12 133780205 133780205 T C ZNF268 Nonsynonymous SNV C645R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 177170 chr12 6935397 6935397 - CAT rs782119686 GPR162 C81_K82insI 0 0 0.003 0 0 0 0 1 0 0 0 0 177171 chr12 6964942 6964942 C T rs145733981 USP5 Synonymous SNV G87G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.87 177172 chr12 7069342 7069342 C T rs114388315 PTPN6 Synonymous SNV F507F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.3 177173 chr12 70965662 70965662 G A rs34796346 PTPRB Synonymous SNV V708V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 8.189 177174 chr2 241904835 241904835 G A rs73008023 CROCC2 Nonsynonymous SNV G1168E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.549 177175 chr12 71898430 71898430 G A rs17109769 LGR5 Synonymous SNV P83P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.131 177176 chr12 72009051 72009051 T C rs17109991 ZFC3H1 Synonymous SNV L1730L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.566 177177 chr12 72070710 72070710 C T rs17110155 THAP2 Nonsynonymous SNV T170M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 177178 chr12 72176401 72176401 C T rs34264044 RAB21 Synonymous SNV N166N 0 0 0.01 0 0 0 0 3 0 0 0 0 13.57 177179 chr12 72314552 72314552 T A rs113500080 TBC1D15 Synonymous SNV L547L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 10.6 177180 chr12 72366326 72366326 T C rs41317132 TPH2 Synonymous SNV Y212Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.273 177181 chr12 7295872 7295872 C T rs114573567 CLSTN3 Synonymous SNV P604P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 177182 chr12 53491568 53491568 G A rs547855662 IGFBP6 Nonsynonymous SNV G23R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 177183 chr12 7531887 7531887 C T rs141462156 CD163L1 Synonymous SNV S696S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 177184 chr2 242206311 242206311 C T rs79913511 HDLBP Nonsynonymous SNV G28R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.18 177185 chr2 70188656 70188656 C T rs148605731 ASPRV1 Synonymous SNV P55P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.25 177186 chr12 7636027 7636027 A G rs78817356 CD163 Synonymous SNV C1008C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.194 177187 chr12 7890040 7890040 G T rs77889141 CLEC4C Nonsynonymous SNV N122K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.1 177188 chr12 80707285 80707285 T C rs12316424 OTOGL Synonymous SNV C1151C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.774 177189 chr3 3189779 3189779 A G rs199931785 TRNT1 Nonsynonymous SNV K396E 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.6 177190 chr12 80878317 80878317 G A rs57971665 PTPRQ Nonsynonymous SNV R259Q 0 0 0.01 1 0 0 0.003 3 0 0 1 0 Benign 34 177191 chr3 7188181 7188181 G A GRM7 Nonsynonymous SNV D188N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 177192 chr12 81063153 81063153 G T rs111994950 PTPRQ Nonsynonymous SNV K1949N 0.001 0 0.007 0 1 0 0 2 0 0 1 0 26.5 177193 chr12 81741462 81741462 A G rs34187367 PPFIA2 Synonymous SNV N261N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.015 177194 chr12 82752457 82752457 C G rs116371584 METTL25 Nonsynonymous SNV T38S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 177195 chr12 83290270 83290270 A C rs17010106 TMTC2 Nonsynonymous SNV Y198S 0 0 0.007 0 0 0 0 2 0 0 0 0 19.76 177196 chr12 85680729 85680729 A T rs115409839 ALX1 Synonymous SNV S210S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.432 177197 chr12 8610545 8610545 T A rs75947861 CLEC6A Nonsynonymous SNV I28N 0 0 0.007 0 0 0 0 2 0 0 1 0 25.4 177198 chr12 86373256 86373256 G A rs34663658 MGAT4C Synonymous SNV N416N 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.049 177199 chr3 9957381 9957381 G A rs112543409 IL17RE Nonsynonymous SNV A516T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.743 177200 chr12 8759543 8759543 C T rs61730095 AICDA Nonsynonymous SNV R25H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.38 177201 chr3 9962617 9962617 G T rs764973726 IL17RC Nonsynonymous SNV G196W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.2 177202 chr12 88483128 88483128 C T rs7307793 CEP290 Nonsynonymous SNV R1237H 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 34 177203 chr12 8988252 8988252 G A rs79151946 A2ML1 Synonymous SNV V211V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.71 177204 chrX 153035649 153035649 G A rs782803101 PLXNB3 Nonsynonymous SNV V578M 0.003 0 0 0 4 0 0 0 1 0 0 0 23.1 177205 chr12 2910326 2910326 G A FKBP4 Nonsynonymous SNV R359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 177206 chr11 236175 236175 C T SIRT3 Nonsynonymous SNV G52S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.6 177207 chr12 9013783 9013783 C T rs7959680 A2ML1 Nonsynonymous SNV T640M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 177208 chr12 9243016 9243016 C T rs114155623 A2M Synonymous SNV A694A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.02 177209 chr12 57492668 57492668 G A rs763298931 STAT6 Nonsynonymous SNV T548I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 177210 chr12 93100466 93100466 C G rs142446097 C12orf74 Nonsynonymous SNV P20R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 177211 chr12 93100593 93100593 G A rs75978302 C12orf74 Synonymous SNV R62R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.512 177212 chr12 9311025 9311025 A G rs35040316 PZP Synonymous SNV N1095N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.524 177213 chrX 15841254 15841254 - AGCCGC rs757551420 ZRSR2 R448_R449insSR 0.002 0 0 0 2 0 0 0 0 0 0 0 177214 chr12 95604927 95604927 T C rs145287348 FGD6 Nonsynonymous SNV T45A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 177215 chr12 58114241 58114241 T C OS9 Synonymous SNV G519G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.759 177216 chr12 331781 331781 C T rs147388541 SLC6A13 Nonsynonymous SNV D386N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.2 177217 chr12 96107087 96107087 G A rs35981876 NTN4 Synonymous SNV N298N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.09 177218 chr12 96216933 96216933 A G rs116207067 LINC02410 0 0 0.003 0 0 0 0 1 0 0 0 0 0.214 177219 chr12 96272013 96272013 A G rs79562656 CCDC38 Synonymous SNV F418F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.427 177220 chr12 96311036 96311036 T C rs61739972 CCDC38 Nonsynonymous SNV K59E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 177221 chr12 96360172 96360172 C A rs17024904 AMDHD1 Nonsynonymous SNV P360H 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 177222 chr12 40085894 40085894 G A rs764848310 C12orf40 Nonsynonymous SNV R464Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.34 177223 chr12 96422898 96422898 A G rs148100914 LTA4H Synonymous SNV A75A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.628 177224 chr12 96894628 96894628 A G rs188096827 CFAP54 Nonsynonymous SNV N112D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 177225 chr12 97084959 97084959 A G rs17025721 CFAP54 Synonymous SNV Q2045Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.015 177226 chr11 315074 315074 T C rs779857971 IFITM1 Synonymous SNV H113H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.015 177227 chr12 9885578 9885578 G A rs79809727 CLECL1 Nonsynonymous SNV P95S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.217 177228 chr12 98909870 98909870 G A rs59027673 TMPO Synonymous SNV P75P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.002 177229 chr12 98993643 98993643 C T rs7955537 SNORA53 0 0 0.003 0 0 0 0 1 0 0 0 0 6.682 177230 chr2 97482104 97482104 C G rs370611199 CNNM3 Synonymous SNV G30G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.638 177231 chr12 44782208 44782208 G T rs199709654 TMEM117 Nonsynonymous SNV R329L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.6 177232 chr13 100211649 100211649 G C rs7330734 TM9SF2 Synonymous SNV T595T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.938 177233 chr13 100634846 100634846 C T rs143055297 ZIC2 Synonymous SNV N176N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.6 177234 chr13 103383792 103383792 G A rs76643569 CCDC168 Nonsynonymous SNV H6419Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.05 177235 chr1 231398555 231398555 A G rs6659098 GNPAT Synonymous SNV L114L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 1.552 177236 chr13 103386190 103386190 G A rs78846374 CCDC168 Synonymous SNV R5619R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.574 177237 chr13 103390831 103390831 C T rs73587230 CCDC168 Synonymous SNV R4072R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.148 177238 chr3 32995436 32995436 G C rs771156887 CCR4 Synonymous SNV L174L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.06 177239 chr13 103710684 103710684 C T rs157381 SLC10A2 Synonymous SNV P142P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.99 177240 chr2 101554239 101554239 G C rs754514291 NPAS2 Nonsynonymous SNV V100L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 177241 chr12 69264134 69264134 A T rs780171947 CPM Synonymous SNV A159A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.152 177242 chr13 109792789 109792789 C A rs755829865 MYO16 Nonsynonymous SNV T1410N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 177243 chr13 111176316 111176316 T C rs426453 RAB20 Nonsynonymous SNV N134S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.001 177244 chr12 70963659 70963659 C A rs201160280 PTPRB Nonsynonymous SNV V836L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 177245 chr13 111368023 111368023 C G rs56682720 ING1 Nonsynonymous SNV S78C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.479 177246 chr13 111642459 111642459 A G rs148619092 LINC00431 0 0 0.003 0 0 0 0 1 0 0 0 0 2.485 177247 chr13 111642481 111642481 C A rs188686399 LINC00431 0 0 0.003 0 0 0 0 1 0 0 0 0 8.015 177248 chr13 113212596 113212596 G A rs9324311 TUBGCP3 Synonymous SNV S144S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 177249 chr3 38927620 38927620 C T rs562379429 SCN11A Nonsynonymous SNV R982Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.885 177250 chr13 113333809 113333809 G A rs114091399 ATP11AUN 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.083 177251 chr13 113473629 113473629 G A rs2277433 ATP11A Synonymous SNV A194A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.544 177252 chr13 113508776 113508776 C T rs944384926 ATP11A Synonymous SNV D725D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 177253 chr13 113510357 113510357 C T rs78821510 ATP11A Synonymous SNV S792S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.33 177254 chr13 113510360 113510360 G A rs61747421 ATP11A Synonymous SNV A793A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.52 177255 chr13 113783785 113783785 G C rs5961 F10 Nonsynonymous SNV Q30H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 177256 chr3 39228871 39228871 G A rs199632343 XIRP1 Nonsynonymous SNV P689L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 177257 chr13 113973832 113973832 C T rs9577229 LAMP1 Nonsynonymous SNV A204V 0 0 0.007 0 0 0 0 2 0 0 1 0 9.04 177258 chr5 167993100 167993100 G T rs200853439 PANK3 Nonsynonymous SNV L185M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.28 177259 chr13 114526504 114526504 G A rs74118435 GAS6 Synonymous SNV V499V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.787 177260 chr3 40464373 40464374 CT - ENTPD3 C289Lfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 177261 chr13 114773022 114773022 C T rs74116414 RASA3 Nonsynonymous SNV V545M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 177262 chr12 50500700 50500700 G A rs35256655 GPD1 Synonymous SNV K181K 0.003 0.008 0 0 4 3 0 0 0 0 0 0 19.73 177263 chr13 115007610 115007610 C T rs17337919 CDC16 Synonymous SNV I38I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.57 177264 chr13 115039377 115039377 T C rs17338452 MIR4502 0 0 0.003 0 0 0 0 1 0 0 0 0 6.72 177265 chr13 115064444 115064444 A G rs3993409 UPF3A Nonsynonymous SNV M125V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 177266 chr13 23907741 23907741 T C rs147317123 SACS Nonsynonymous SNV K3278R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.3 177267 chr13 23928912 23928912 C T rs35840595 SACS Synonymous SNV Q466Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 2.28 177268 chr13 24861085 24861085 T C rs9580915 SPATA13 Synonymous SNV C185C 0 0 0.007 0 0 0 0 2 0 0 1 0 0.502 177269 chr13 25887072 25887072 A G rs61756128 NUP58 Nonsynonymous SNV N101S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 177270 chr13 28578192 28578192 C T rs142922228 FLT3 Synonymous SNV S993S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.71 177271 chr2 128083319 128083319 T C MAP3K2 Nonsynonymous SNV D221G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 177272 chr13 30107103 30107103 C T rs34981623 SLC7A1 Synonymous SNV A129A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 177273 chr13 31037445 31037445 T C rs983723 HMGB1 Synonymous SNV K65K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.034 177274 chr13 32731528 32731528 G A rs186295525 FRY Synonymous SNV P590P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 177275 chr13 32735290 32735290 A G rs114839670 FRY Synonymous SNV R598R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.021 177276 chr13 32745177 32745177 C A rs116459776 FRY Synonymous SNV R641R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.87 177277 chr13 32783168 32783168 C T rs114097884 FRY Synonymous SNV H1399H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.56 177278 chr13 32885796 32885796 C A rs149512133 ZAR1L Nonsynonymous SNV K89N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 177279 chr2 133403006 133403006 C T rs552944365 GPR39 Nonsynonymous SNV R397W 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 177280 chr3 46491990 46491990 C G LTF Nonsynonymous SNV A249P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 177281 chr13 33591185 33591185 G T rs116289670 KL Nonsynonymous SNV A203S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.37 177282 chr13 33687040 33687040 G A rs150898613 STARD13 Synonymous SNV A652A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.26 177283 chr12 9345166 9345166 T A rs368011806 PZP Nonsynonymous SNV H475L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.88 177284 chr13 36241632 36241632 T C rs200136838 NBEA Synonymous SNV Y634Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.319 177285 chr13 36348763 36348763 G A rs145262053 DCLK1 Nonsynonymous SNV A404V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 177286 chr13 38158945 38158945 G A rs9594223 POSTN Nonsynonymous SNV T339I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 177287 chr12 94806191 94806191 C T rs199871798 CEP83 Nonsynonymous SNV G26S 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.005 177288 chr13 39265460 39265460 T A rs116653247 FREM2 Nonsynonymous SNV L1327I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 177289 chr13 39266113 39266113 T C rs146140915 FREM2 Synonymous SNV S1544S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.064 177290 chr13 39266382 39266382 C T rs74781600 FREM2 Nonsynonymous SNV T1634M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.2 177291 chr13 39343741 39343741 G A rs147187551 FREM2 Nonsynonymous SNV E1813K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 177292 chr13 41639377 41639377 C T rs61740513 WBP4 Synonymous SNV A72A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 17.21 177293 chr12 53452144 53452144 C T TNS2 Synonymous SNV L390L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 177294 chr13 42142362 42142362 A G rs201705320 VWA8 Nonsynonymous SNV F1897L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 177295 chr1 248512638 248512638 T A OR14C36 Nonsynonymous SNV S188T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 177296 chr13 42793849 42793851 AAC - rs553345635 DGKH N877del 0 0 0.003 0 0 0 0 1 0 0 0 0 177297 chr13 42871281 42871281 A G rs114345660 AKAP11 Nonsynonymous SNV N105S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.837 177298 chr13 42874690 42874690 G A rs75408491 AKAP11 Nonsynonymous SNV R603H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.28 177299 chr13 42877257 42877257 A G rs75106690 AKAP11 Nonsynonymous SNV T1459A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 177300 chr13 43148586 43148586 C T rs61735535 TNFSF11 Synonymous SNV F49F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19.6 177301 chr13 43788177 43788177 C A rs7989972 ENOX1 Synonymous SNV T662T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 177302 chr13 49705339 49705339 A G rs34539036 FNDC3A Nonsynonymous SNV S51G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.539 177303 chr13 50102794 50102794 C A rs62638668 PHF11, SETDB2-PHF11 Nonsynonymous SNV S330Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 177304 chr13 50307126 50307126 T C rs61750352 KPNA3 Synonymous SNV L57L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.813 177305 chr13 109792970 109792970 C T rs375111602 MYO16 Synonymous SNV G1470G 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 7.937 177306 chr6 8415152 8415152 T G rs541326138 SLC35B3 Synonymous SNV P285P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.04 177307 chr13 52396190 52396190 C T rs77506300 TMEM272 0 0 0.003 0 0 0 0 1 0 0 0 0 8.774 177308 chr2 165353540 165353540 T A rs145405254 GRB14 Nonsynonymous SNV I367F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 177309 chr13 53420489 53420489 C T rs201879483 PCDH8 Nonsynonymous SNV G695S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.9 177310 chr13 67800580 67800580 C T rs114529152 PCDH9 Nonsynonymous SNV V665I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 177311 chr13 70681574 70681574 - GAGGAAGAGGACGGGGAGGACGACGAA rs544711418 KLHL1 S88_F89insSSPSSSSSS 0.001 0 0.003 0 1 0 0 1 0 0 0 0 177312 chr13 76111929 76111929 T C rs111633743 COMMD6 Nonsynonymous SNV S5G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.848 177313 chr6 17688661 17688661 T C rs763852727 NUP153 Synonymous SNV R100R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.996 177314 chr11 5424641 5424641 C A OR51J1 Nonsynonymous SNV P272H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 177315 chr13 77531958 77531958 G T rs1007210478 ACOD1 Nonsynonymous SNV K428N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 177316 chr13 78173905 78173905 C A rs76327395 SCEL-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.404 177317 chr13 78472380 78472380 G A rs754498240 EDNRB Synonymous SNV H428H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 177318 chr13 20224385 20224385 G A rs374639933 MPHOSPH8 Nonsynonymous SNV A521T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.149 177319 chr13 92003589 92003589 G A rs9589207 MIR17HG, MIR92A1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 177320 chr13 95696540 95696540 C T rs11568695 ABCC4 Synonymous SNV A1156A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.4 177321 chr13 95715014 95715014 A G rs11568655 ABCC4 Synonymous SNV L1057L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.826 177322 chr13 95715069 95715069 G T rs11568652 ABCC4 Synonymous SNV I1038I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.38 177323 chr6 24566953 24566953 G A rs113411083 KIAA0319 Nonsynonymous SNV R133W 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 24.3 177324 chr14 100138730 100138730 A G rs145403455 HHIPL1 Nonsynonymous SNV K603E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 177325 chr14 100361072 100361072 C G rs7144394 EML1 Synonymous SNV T218T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.77 177326 chr2 20189002 20189002 C A rs201860485 WDR35 Nonsynonymous SNV W22C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 177327 chr14 100813108 100813108 G A rs150850583 WARS Synonymous SNV F226F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.96 177328 chr14 101010204 101010204 T C rs4073549 BEGAIN Synonymous SNV S114S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 0.2 177329 chr14 101347565 101347565 C T rs61368742 RTL1 Synonymous SNV Q1187Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.751 177330 chr14 101420721 101420721 A G rs78204860 SNORD114-4 0 0 0.003 0 0 0 0 1 0 0 0 0 3.223 177331 chr14 101439962 101439962 C T rs11844771 SNORD114-16 0 0 0.003 0 0 0 0 1 0 0 0 0 4.257 177332 chr11 555798 555798 G - rs770005967 LMNTD2 R504Afs*30 0.006 0 0 0 7 0 0 0 0 0 0 0 177333 chr14 102676010 102676010 C G rs140740176 WDR20 Synonymous SNV T440T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.457 177334 chr14 102676040 102676040 G A rs144508370 WDR20 Synonymous SNV T450T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.332 177335 chr3 77629159 77629159 G A rs201678507 ROBO2 Nonsynonymous SNV R797Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 177336 chr2 179612393 179612393 C T TTN Nonsynonymous SNV A4912T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 177337 chr14 104028303 104028303 A G rs73361323 BAG5 Synonymous SNV D14D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.468 177338 chr13 32367033 32367033 C G rs138951290 RXFP2 Nonsynonymous SNV R508G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.4 177339 chr14 104452637 104452637 C G TDRD9 Nonsynonymous SNV D365E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 177340 chr2 27259421 27259421 G A rs199779856 TMEM214 Nonsynonymous SNV G218S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 177341 chr13 37012831 37012831 G A rs61755283 CCNA1 Synonymous SNV T239T 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 13.62 177342 chr2 27353509 27353509 A G rs148295709 ABHD1 Nonsynonymous SNV Y372C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 177343 chr3 100119690 100119690 C A rs748761190 TOMM70 Nonsynonymous SNV G35V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 177344 chr14 105201380 105201380 G A rs74089207 ADSS1 Synonymous SNV T72T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.7 177345 chr14 105208265 105208265 G A rs74089211 ADSS1 Nonsynonymous SNV G87S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 24.5 177346 chr10 13264183 13264183 G A rs757509244 UCMA Nonsynonymous SNV R59W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 177347 chr14 105349570 105349570 C T rs41304371 CEP170B Nonsynonymous SNV A189V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.06 177348 chr14 105350222 105350222 C T rs62641743 CEP170B Nonsynonymous SNV A299V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 177349 chr10 133758881 133758881 C T rs201316038 PPP2R2D Synonymous SNV N81N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.1 177350 chr14 105406201 105406201 C T rs116553680 AHNAK2 Nonsynonymous SNV R5096H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.975 177351 chr12 57539107 57539107 G A rs577326650 LRP1 Synonymous SNV T225T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.97 177352 chr6 33660558 33660558 C T rs759988470 ITPR3 Synonymous SNV V2504V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 177353 chr6 33756655 33756655 G A rs763749106 LEMD2 Nonsynonymous SNV A80V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 177354 chr14 105622157 105622157 G A rs61750261 JAG2 Synonymous SNV N215N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.996 177355 chr14 105821457 105821457 G A rs61738367 PACS2 Synonymous SNV K122K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.36 177356 chr14 105865808 105865808 - A rs149809884 TEX22 Frameshift insertion L45Tfs*95 0.001 0 0.007 0 1 0 0 2 0 0 0 0 177357 chr2 186658861 186658861 G A rs550901813 FSIP2 Nonsynonymous SNV R2333H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.876 177358 chr14 105957446 105957446 G A rs76864584 TEDC1 Nonsynonymous SNV G3S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.176 177359 chr14 107259195 107259195 T C rs58031327 MIR5195 0 0 0.003 0 0 0 0 1 0 0 0 0 0.167 177360 chr12 7351702 7351702 G C PEX5 Nonsynonymous SNV D182H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 177361 chr9 17166878 17166878 G C rs576029291 CNTLN Nonsynonymous SNV G171A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.09 177362 chr14 20824122 20824122 T C rs3093929 PARP2 Synonymous SNV L345L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.056 177363 chr14 20850212 20850212 C T rs2228030 TEP1 Synonymous SNV V1320V 0.001 0 0.007 5 1 0 0.013 2 0 0 1 0 13.66 177364 chr14 20854656 20854656 G A rs150794249 TEP1 Synonymous SNV H829H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.109 177365 chr12 82752357 82752357 T C rs370943296 METTL25 Nonsynonymous SNV C5R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 177366 chr14 20897735 20897735 A G rs376991127 KLHL33 Synonymous SNV Y325Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 177367 chr14 21052572 21052572 C T rs60929188 RNASE11 Nonsynonymous SNV S21N 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 3.753 177368 chr13 58208379 58208379 G A rs755932473 PCDH17 Nonsynonymous SNV A567T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 177369 chr14 21108965 21108965 G A rs17114309 OR6S1 Nonsynonymous SNV R296C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25 177370 chr9 33026529 33026529 A G rs369610384 DNAJA1 Nonsynonymous SNV N16S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 177371 chr14 21215974 21215974 G T rs115258284 EDDM3A Nonsynonymous SNV A79S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.433 177372 chr14 21216078 21216078 G A rs74034402 EDDM3A Synonymous SNV R113R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.685 177373 chr14 21461281 21461281 G A rs34207344 METTL17 Nonsynonymous SNV R178Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1 177374 chr2 196728902 196728902 C T rs376266609 DNAH7 Nonsynonymous SNV V2493I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.35 177375 chr2 196728903 196728903 A G DNAH7 Synonymous SNV L2492L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.061 177376 chr2 196728906 196728906 A G DNAH7 Synonymous SNV A2491A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.103 177377 chr2 196728908 196728908 C A DNAH7 Nonsynonymous SNV A2491S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.019 177378 chr2 196728909 196728909 A T DNAH7 Synonymous SNV P2490P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.041 177379 chr2 196728917 196728917 T G DNAH7 Nonsynonymous SNV K2488Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.47 177380 chr2 196728920 196728920 - C DNAH7 Frameshift insertion R2487Efs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 177381 chr2 196728924 196728924 A - DNAH7 R2487Efs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 177382 chr2 196728930 196728930 C T DNAH7 Synonymous SNV R2483R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.681 177383 chr2 196728936 196728936 T G rs201418733 DNAH7 Synonymous SNV A2481A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.032 177384 chr2 40392056 40392056 G A SLC8A1 Nonsynonymous SNV R667C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 177385 chr14 21795949 21795949 G C rs35810926 RPGRIP1 Nonsynonymous SNV A960P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.022 177386 chr2 197511077 197511077 A G rs549312035 CCDC150 Nonsynonymous SNV T9A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.091 177387 chr14 21840087 21840087 C T rs61743314 SUPT16H Synonymous SNV K92K 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 15.93 177388 chr6 42196197 42196197 G C TRERF1 Nonsynonymous SNV D1183E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.939 177389 chr14 23072563 23072563 G A rs139710133 ABHD4 Synonymous SNV S127S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 177390 chr6 42713316 42713316 G C rs199582225 TBCC Nonsynonymous SNV Q166E 0 0 0 3 0 0 0.008 0 0 0 0 0 0.001 177391 chr12 96184068 96184068 A C rs558117937 NTN4 Nonsynonymous SNV L7R 0.003 0 0 0 4 0 0 0 0 0 0 0 25.6 177392 chr6 42934087 42934087 C T PEX6 Synonymous SNV L731L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 177393 chr14 23392246 23392246 G C rs73594485 PRMT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.013 177394 chr6 43019179 43019179 C T CUL7 Nonsynonymous SNV V338M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 177395 chr14 23745016 23745016 T C rs199950904 HOMEZ Nonsynonymous SNV Q474R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 177396 chr9 71114257 71114257 G A rs182577861 PGM5 Nonsynonymous SNV G532S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 177397 chr14 23858653 23858653 A G rs115742584 MYH6 Synonymous SNV S1309S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.843 177398 chr14 102802168 102802168 A C rs181795004 ZNF839 Nonsynonymous SNV N435T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 177399 chr14 23869597 23869597 G A rs145447555 MYH6 Synonymous SNV N483N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.64 177400 chr14 23992941 23992941 G T rs116693907 ZFHX2 Synonymous SNV T2070T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.974 177401 chr14 23993292 23993292 G C rs149833290 ZFHX2 Synonymous SNV G1953G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.298 177402 chr14 24030810 24030810 G T rs34987563 AP1G2 Synonymous SNV R209R 0.003 0.005 0.014 2 3 2 0.005 4 0 0 0 0 11.85 177403 chr14 24040496 24040496 G A rs141828927 JPH4 Nonsynonymous SNV P482S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 177404 chr14 24538127 24538127 C T rs62621245 CARMIL3 Nonsynonymous SNV R1312W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 177405 chr14 24586567 24586567 G A rs61744791 DCAF11 Nonsynonymous SNV A126T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.057 177406 chr14 24613439 24613439 G C rs17101478 PSME2 Synonymous SNV V153V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.999 177407 chr14 24620759 24620759 C T rs111795824 RNF31 Synonymous SNV H450H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.58 177408 chr14 24631404 24631404 G A rs34348617 IRF9 Synonymous SNV V17V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.71 177409 chr14 24631452 24631452 A T rs36124059 IRF9 Synonymous SNV T33T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.005 177410 chr14 24654115 24654115 G T rs145779241 IPO4 Nonsynonymous SNV P494T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.686 177411 chr14 24676498 24676498 A G rs1270764 TSSK4 Nonsynonymous SNV Q206R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 177412 chr14 24677344 24677346 ACG - rs34067514 TSSK4 T338del 0 0 0.003 0 0 0 0 1 0 0 0 0 177413 chr14 24718709 24718709 G A rs35926651 TGM1 Nonsynonymous SNV S755L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 177414 chr14 24731505 24731505 C T rs41295336 TGM1 Synonymous SNV Q18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.633 177415 chr14 24735688 24735688 C T rs34973999 RABGGTA Synonymous SNV L501L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.699 177416 chr14 24770039 24770039 A T rs73589696 NOP9 Nonsynonymous SNV R225W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 177417 chr14 24780364 24780364 A G rs1950504 LTB4R2 Nonsynonymous SNV D165G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.657 177418 chr14 24792154 24792154 C T rs78813945 ADCY4 Synonymous SNV S766S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 177419 chr14 24845186 24845186 G A rs75665775 NFATC4 Synonymous SNV T645T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 177420 chr14 31029991 31029991 A G rs60353606 G2E3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.156 177421 chr14 31091566 31091566 - CAG rs372043124 SCFD1 A13_S14insA 0 0 0.003 0 0 0 0 1 0 0 0 0 177422 chr14 31581630 31581630 G A rs115107117 HECTD1 Synonymous SNV G2090G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 177423 chr14 31775976 31775976 G C rs17091516 HEATR5A Nonsynonymous SNV A1643G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 177424 chr3 129252533 129252533 C T rs148748781 RHO Nonsynonymous SNV T340M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 34 177425 chr14 32295866 32295866 C T rs35330765 NUBPL Synonymous SNV I30I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.09 177426 chr14 33069859 33069859 T C rs78777085 AKAP6 Nonsynonymous SNV I864T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 177427 chr14 33291565 33291565 A G rs17099587 AKAP6 Nonsynonymous SNV T1516A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.362 177428 chr14 35735958 35735958 C A rs144536804 PRORP Nonsynonymous SNV A62D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 177429 chr14 20586440 20586440 C A rs759066604 OR4K17 Nonsynonymous SNV P264H 0 0.003 0 0 0 1 0 0 0 0 0 0 23 177430 chr9 91150448 91150448 C T rs143205041 NXNL2 Synonymous SNV F33F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.42 177431 chr14 38678728 38678728 C T rs116022629 SSTR1 Nonsynonymous SNV A45V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 177432 chr3 131300493 131300493 A G CPNE4 Nonsynonymous SNV I284T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 177433 chr14 45373684 45373684 C T rs76976586 C14orf28 Nonsynonymous SNV S234F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 177434 chr14 45644627 45644627 T C rs8017226 FANCM Synonymous SNV F864F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.202 177435 chr14 45687650 45687650 C G rs150763875 MIS18BP1 Nonsynonymous SNV A893P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 177436 chr14 50468660 50468660 G A rs76861757 LINC01588 0 0 0.003 0 0 0 0 1 0 0 0 0 1.026 177437 chr14 50469567 50469567 G A rs78674637 LINC01588 0 0 0.003 0 0 0 0 1 0 0 0 0 6.834 177438 chr14 50472496 50472496 G - rs11346554 LINC01588 0 0 0.003 0 0 0 0 1 0 0 0 0 177439 chr14 50582566 50582566 G A rs74049153 VCPKMT Synonymous SNV Y147Y 0 0.005 0.007 0 0 2 0 2 0 0 1 0 3.229 177440 chr14 50626553 50626553 C T rs17122201 SOS2 Nonsynonymous SNV S483N 0 0.005 0.007 0 0 2 0 2 0 0 1 0 Benign 7.01 177441 chr14 50778770 50778770 C A rs35710558 L2HGDH Nonsynonymous SNV R33S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.556 177442 chr14 21542906 21542906 G A ARHGEF40 Synonymous SNV E339E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 177443 chr14 51352566 51352566 A G rs11846037 ABHD12B Synonymous SNV R128R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.397 177444 chr13 24858405 24858405 A G rs140515823 SPATA13 Nonsynonymous SNV N63S 0.002 0.003 0.003 5 2 1 0.013 1 0 0 0 0 23.7 177445 chr14 52985950 52985950 T A rs28593180 TXNDC16 Nonsynonymous SNV N147Y 0 0 0.007 0 0 0 0 2 0 0 1 0 25.6 177446 chr14 21991580 21991580 T C rs770681862 SALL2 Nonsynonymous SNV E759G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 177447 chr14 52985997 52985997 C T rs28759013 TXNDC16, TXNDC16 Nonsynonymous SNV S136N 0 0 0.007 0 0 0 0 2 0 0 1 0 13.9 177448 chrX 103359059 103359059 T C rs782326734 ZCCHC18 Nonsynonymous SNV L86S 0.012 0.008 0 1 14 3 0.003 0 4 0 0 0 24.2 177449 chr14 53619369 53619369 C A rs73296180 DDHD1 Nonsynonymous SNV G150C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.59 177450 chr14 57741563 57741563 G C rs10137359 AP5M1 Nonsynonymous SNV G226R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 177451 chr14 58033268 58033268 C T rs369927666 SLC35F4 Nonsynonymous SNV V380M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 177452 chr14 58056063 58056063 T A rs374745886 SLC35F4 Nonsynonymous SNV Y152F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 177453 chr14 58605426 58605426 G A rs114888842 ARMH4 Synonymous SNV T217T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.988 177454 chr14 59930503 59930503 A G rs1752427 GPR135 Nonsynonymous SNV V481A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.001 177455 chr14 59950945 59950945 C T rs61742156 L3HYPDH Synonymous SNV E30E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 177456 chr14 60194333 60194333 T C rs35707243 RTN1 Nonsynonymous SNV I357V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.08 177457 chr14 60574875 60574875 T C rs73310127 PCNX4 Synonymous SNV T173T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 177458 chr14 60591953 60591953 G A rs61529312 PCNX4 Nonsynonymous SNV A788T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 177459 chrX 127186068 127186068 C T rs375823292 ACTRT1 Nonsynonymous SNV G40R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 177460 chr14 60592395 60592395 - TAT rs201595102 PCNX4 P807delinsLS 0 0.003 0.003 0 0 1 0 1 0 0 0 0 177461 chr14 60600732 60600732 C A rs73310179 PCNX4 Synonymous SNV I870I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 177462 chr14 60620711 60620711 G A rs61742394 DHRS7 Nonsynonymous SNV A70V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.068 177463 chr14 61442412 61442412 T G rs78987129 TRMT5 Nonsynonymous SNV S437R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.138 177464 chrX 131212845 131212845 C T rs61751728 FRMD7 Synonymous SNV A385A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 3.922 177465 chr14 61510176 61510176 T C rs113118527 SLC38A6 Synonymous SNV N233N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.107 177466 chr14 64457224 64457224 C A rs17101525 SYNE2 Synonymous SNV S803S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 13.19 177467 chr14 64488068 64488068 T A rs116597541 SYNE2 Nonsynonymous SNV H1729Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.021 177468 chr2 228884426 228884426 G T rs149444320 SPHKAP Nonsynonymous SNV Q382K 0.004 0 0 0 5 0 0 0 0 0 0 0 4.742 177469 chr14 24877228 24877228 C T NYNRIN Synonymous SNV L118L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.36 177470 chr3 171561195 171561195 G T TMEM212 Nonsynonymous SNV A8S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 177471 chr3 172058941 172058941 G A rs749330093 FNDC3B Nonsynonymous SNV E631K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 177472 chr14 64926620 64926620 A C rs1801340 MTHFD1 Nonsynonymous SNV E954D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.065 177473 chr14 64935370 64935370 A C rs2230490 AKAP5 Synonymous SNV V86V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.477 177474 chr14 64936286 64936286 T C rs76493017 AKAP5 Synonymous SNV L392L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.579 177475 chr14 65031509 65031509 G T rs74056311 PPP1R36 Nonsynonymous SNV G75C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 30 177476 chr14 65055906 65055906 C T rs116108142 PPP1R36 Synonymous SNV N373N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.963 177477 chr2 232100022 232100022 C A rs769177567 ARMC9 Synonymous SNV A236A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 177478 chr14 68022592 68022592 C T rs116093796 PLEKHH1 Synonymous SNV N59N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 177479 chr14 68038588 68038588 C T rs73272331 PLEKHH1 Synonymous SNV S518S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.59 177480 chr14 68157869 68157869 C T RDH11 Nonsynonymous SNV V148I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 177481 chr14 68217778 68217778 A G rs35106153 ZFYVE26 Synonymous SNV D2469D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.22 177482 chr14 68221833 68221833 G A rs35917338 ZFYVE26 Synonymous SNV S2307S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.86 177483 chr14 68256219 68256219 G A rs35471427 ZFYVE26 Nonsynonymous SNV T951M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.52 177484 chr14 69358863 69358863 C T rs10133712 ACTN1 Synonymous SNV K331K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.8 177485 chr14 69371376 69371376 G A rs73284984 ACTN1 Synonymous SNV A224A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.02 177486 chr14 70245977 70245977 A G rs61745930 SLC10A1 Nonsynonymous SNV I223T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.44 177487 chr14 70634984 70634984 C T rs148200779 SLC8A3 Synonymous SNV S52S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.658 177488 chr13 50279784 50279784 T C rs369254638 KPNA3 Nonsynonymous SNV I449V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 177489 chr14 73554740 73554740 A G rs140836686 RBM25 Synonymous SNV E138E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.647 177490 chr14 73727524 73727524 C T rs150580252 PAPLN Nonsynonymous SNV A698V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 177491 chr14 73732103 73732103 C T rs61746923 PAPLN Nonsynonymous SNV R1051W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 177492 chr14 73945440 73945440 G T rs78875724 HEATR4 Synonymous SNV P984P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.431 177493 chr14 73964964 73964964 C T rs59042606 HEATR4 Nonsynonymous SNV R814Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 177494 chr14 73976045 73976045 C T rs76870457 HEATR4 Nonsynonymous SNV R564Q 0 0 0.007 0 0 0 0 2 0 0 0 0 4.978 177495 chr13 52997751 52997751 G A rs148697614 VPS36 Synonymous SNV L257L 0.005 0 0 0 6 0 0 0 0 0 0 0 11.3 177496 chr14 73985794 73985794 G C rs80266286 HEATR4 Nonsynonymous SNV N381K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 177497 chr14 74058903 74058903 G C rs142744522 ACOT4 Synonymous SNV L80L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.433 177498 chr14 74083826 74083826 C T rs36048083 ACOT6 Nonsynonymous SNV P197L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 177499 chr14 74083868 74083868 C T rs11846740 ACOT6 Nonsynonymous SNV A211V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 177500 chr13 32783027 32783027 G A rs200785375 FRY Synonymous SNV G1352G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.655 177501 chr11 6584302 6584302 G A DNHD1 Nonsynonymous SNV E3204K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.848 177502 chr14 74823681 74823681 G A VRTN Synonymous SNV L65L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.647 177503 chr14 74824002 74824002 C T rs2232033 VRTN Synonymous SNV N172N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.628 177504 chr2 128018908 128018908 C T rs568193912 ERCC3 Nonsynonymous SNV E654K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 not provided 28.4 177505 chr2 128335798 128335798 G A rs549327895 MYO7B Nonsynonymous SNV E314K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 30 177506 chr2 128341835 128341835 C T rs537631327 MYO7B Synonymous SNV P494P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.42 177507 chr14 75265655 75265657 GAT - rs777688211 YLPM1 D1220del 0 0 0.003 0 0 0 0 1 0 0 0 0 177508 chr14 75279461 75279461 G A rs2302835 YLPM1 Synonymous SNV P1826P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 12.94 177509 chr2 238678616 238678616 G A rs147429046 LRRFIP1 Nonsynonymous SNV R251Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 35 177510 chr14 75330205 75330205 C T rs61747287 PROX2 Synonymous SNV P111P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.51 177511 chr11 6645177 6645177 C T rs769888974 DCHS1 Nonsynonymous SNV R2577H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 177512 chr13 77755845 77755845 T G MYCBP2 Nonsynonymous SNV K1644N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 177513 chr14 75576520 75576520 A G rs8005071 NEK9 Synonymous SNV Y350Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.234 177514 chr14 75746627 75746627 G A rs76195634 FOS Synonymous SNV T63T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.35 177515 chrX 24593265 24593265 A G rs370231319 PCYT1B Synonymous SNV F275F 0.002 0.005 0 1 2 2 0.003 0 1 0 0 0 5.942 177516 chr11 6662214 6662214 C T rs549851525 DCHS1 Nonsynonymous SNV G211R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.907 177517 chrX 24744142 24744142 A G rs372526139 POLA1 Synonymous SNV E454E 0.002 0.005 0 1 2 2 0.003 0 1 0 0 0 0.476 177518 chr14 51355576 51355576 A G rs368937965 ABHD12B Synonymous SNV P168P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 177519 chr14 78036760 78036760 C A rs114519796 SPTLC2 Synonymous SNV T241T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.52 177520 chr14 81609331 81609331 G A rs139286618 TSHR Nonsynonymous SNV R310H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.1 177521 chr14 81610634 81610634 C G rs61743974 TSHR Nonsynonymous SNV N744K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.42 177522 chr14 100118767 100118767 G A rs142957860 HHIPL1 Synonymous SNV T154T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.67 177523 chr14 55429694 55429696 TCT - rs138036839 WDHD1 E712del 0 0.005 0 0 0 2 0 0 0 0 0 0 177524 chr14 89883833 89883833 C T rs547587185 FOXN3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.945 177525 chr14 90420981 90420981 G A rs28400373 EFCAB11 Synonymous SNV A8A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.726 177526 chr14 90451530 90451530 T C rs10151377 TDP1 Synonymous SNV N369N 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.422 177527 chr14 90651286 90651286 G C rs35909577 KCNK13 Nonsynonymous SNV G389A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 177528 chr14 91691164 91691164 C T rs35798893 DGLUCY Nonsynonymous SNV T618M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 177529 chr3 194175023 194175023 T C ATP13A3 Nonsynonymous SNV I243M 0.003 0 0 0 4 0 0 0 0 0 0 0 19.02 177530 chr14 91770287 91770287 C A rs73336474 CCDC88C Synonymous SNV A1131A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.52 177531 chr14 92469813 92469813 T C rs34839498 TRIP11 Nonsynonymous SNV M1502V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.002 177532 chr14 92472103 92472103 A G rs35009380 TRIP11 Synonymous SNV Y738Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 177533 chr14 93118674 93118674 G A rs74074811 RIN3 Nonsynonymous SNV R352Q 0.001 0 0.014 0 1 0 0 4 0 0 0 0 0.002 177534 chr14 93118797 93118797 G A rs143884398 RIN3 Nonsynonymous SNV R393Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 177535 chr13 51825750 51825750 G A rs146836694 FAM124A Nonsynonymous SNV E83K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 177536 chr14 93118823 93118823 C T rs74074812 RIN3 Nonsynonymous SNV P402S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.31 177537 chr14 93125514 93125514 G A rs150023914 RIN3 Nonsynonymous SNV V604I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 177538 chr14 61923900 61923900 G A rs772743419 PRKCH Nonsynonymous SNV V323I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.21 177539 chr14 62229197 62229197 C G SNAPC1 Nonsynonymous SNV L7V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.65 177540 chr14 94394567 94394567 G A rs115955824 FAM181A Nonsynonymous SNV G41E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.41 177541 chr14 94417479 94417479 T C rs77273556 ASB2 Nonsynonymous SNV N201S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 177542 chr14 94503739 94503739 T G rs142348863 OTUB2 Nonsynonymous SNV F6C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 177543 chr14 64464034 64464034 A G rs1046702631 SYNE2 Synonymous SNV T1056T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.866 177544 chr3 196159217 196159217 T C rs955397569 UBXN7 Synonymous SNV Q18Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 177545 chr14 94847285 94847285 A G rs1049800 SERPINA1 Synonymous SNV D280D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 0.079 177546 chr14 94847351 94847351 C T rs34112109 SERPINA1 Synonymous SNV K258K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.803 177547 chr14 94849053 94849053 G A rs72552402 SERPINA1 Synonymous SNV T174T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.986 177548 chr14 95035791 95035791 C G rs114999325 SERPINA4 Synonymous SNV T418T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.571 177549 chr2 160840584 160840584 C A rs149133741 PLA2R1 Nonsynonymous SNV V680L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 177550 chr13 76196005 76196005 G A rs150991875 LMO7 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.477 177551 chr14 95056583 95056583 G A rs141064706 SERPINA5 Nonsynonymous SNV M275I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 177552 chr14 95085674 95085674 C T rs573366685 SERPINA3 Synonymous SNV T262T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 177553 chr2 162929955 162929955 C T rs148524083 DPP4 Synonymous SNV A16A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 22.8 177554 chr14 95107862 95107862 G A rs113361700 SERPINA13P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.661 177555 chr14 95109939 95109939 - TGCTC rs112759068 SERPINA13P 0 0 0.01 0 0 0 0 3 0 0 0 0 177556 chr6 152720805 152720805 A G SYNE1 Synonymous SNV L2402L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.735 177557 chr14 96769536 96769536 G A rs35682045 ATG2B Synonymous SNV L1633L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.36 177558 chr3 10191561 10191561 A G rs561874453 VHL Nonsynonymous SNV Y144C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 177559 chr14 96811586 96811586 A G rs61740267 ATG2B Synonymous SNV A154A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.623 177560 chr14 97411423 97411423 C T rs115639729 LINC00618 0 0 0.007 0 0 0 0 2 0 0 0 0 6.636 177561 chr14 68157864 68157866 GTT - RDH11 N149del 0 0.003 0 0 0 1 0 0 0 0 0 0 177562 chr4 1309355 1309355 G A rs111976222 MAEA Synonymous SNV T141T 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 15.23 177563 chr15 100252741 100252741 - GCAGCC MEF2A Q352_P353insQP 0 0 0.003 0 0 0 0 1 0 0 0 0 177564 chr6 157528337 157528337 G A rs761473119 ARID1B Nonsynonymous SNV R1311K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 177565 chr15 100889452 100889452 T C rs78271524 SPATA41 0 0 0.007 0 0 0 0 2 0 0 0 0 4.952 177566 chr15 101114086 101114086 G A rs34967129 LINS1 Nonsynonymous SNV A331V 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 9.89 177567 chr15 101432681 101432681 T C rs3809521 LOC101927751 0 0 0.01 0 0 0 0 3 0 0 0 0 3.582 177568 chr15 101454764 101454764 T A rs116367590 LOC101927751 0 0 0.003 0 0 0 0 1 0 0 0 0 6.208 177569 chr4 2835499 2835499 G A rs201983777 SH3BP2 Nonsynonymous SNV V542M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.9 177570 chr15 102346030 102346030 G A rs401632 OR4F6 Synonymous SNV V36V 0.003 0 0.01 0 3 0 0 3 0 0 1 0 2.828 177571 chr15 24921859 24921859 A G rs7165533 NPAP1 Nonsynonymous SNV N282S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.003 177572 chr15 25456809 25456809 G A rs140307674 SNHG14 0 0 0.007 0 0 0 0 2 0 0 1 0 0.115 177573 chr15 25514788 25514788 G A rs188736065 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 7.088 177574 chr15 29398914 29398914 C T rs8032178 APBA2 Synonymous SNV G295G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.01 177575 chr2 179396114 179396114 C T rs55938627 TTN Synonymous SNV S26011S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 177576 chr10 102257912 102257912 G A rs146003942 SEC31B Synonymous SNV A579A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.9 177577 chr3 15686240 15686240 G A rs762757117 BTD Nonsynonymous SNV G273S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 177578 chr15 31206254 31206254 C T rs377418523 FAN1 Nonsynonymous SNV R591W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 177579 chr15 31294896 31294896 G A rs111421899 TRPM1 Nonsynonymous SNV T1353M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.017 177580 chr14 76549899 76549899 G A rs968934182 IFT43 Synonymous SNV A207A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.07 177581 chr15 31362279 31362279 A G rs74010762 TRPM1 Synonymous SNV Y95Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 1.816 177582 chr15 31521510 31521510 G A rs761116368 LOC283710 Synonymous SNV P24P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 177583 chr15 31776469 31776469 C T rs77376353 OTUD7A Synonymous SNV K603K 0.003 0 0.014 0 4 0 0 4 0 0 0 0 12.23 177584 chr15 33260953 33260953 C T rs80089865 FMN1 Synonymous SNV K760K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.43 177585 chr15 33261528 33261528 C T rs61736694 FMN1 Nonsynonymous SNV D569N 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 Benign 13.15 177586 chr3 27326190 27326190 G A rs758875291 NEK10 Synonymous SNV C639C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.181 177587 chr6 165715547 165715547 C G C6orf118 Synonymous SNV G88G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.784 177588 chr15 33855175 33855175 C T rs16972317 RYR3 Synonymous SNV D370D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.81 177589 chr10 104210509 104210509 C T rs562520303 C10orf95 Synonymous SNV E114E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.699 177590 chr15 33954764 33954764 A G rs59021219 RYR3 Nonsynonymous SNV D1678G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.261 177591 chr15 34030716 34030716 C T rs112521485 RYR3 Synonymous SNV Y2527Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.42 177592 chr15 34105084 34105084 A G rs16958093 RYR3 Synonymous SNV K3421K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.414 177593 chr15 34394926 34394926 C T rs73374372 PGBD4 Nonsynonymous SNV T65I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 177594 chr15 34647703 34647703 A G rs61737339 NUTM1 Synonymous SNV R488R 0 0 0.007 0 0 0 0 2 0 0 0 0 9.358 177595 chr15 38990904 38990904 C T rs139319168 LINC02694 0 0 0.003 0 0 0 0 1 0 0 0 0 4.231 177596 chr15 39874092 39874092 C T rs35248254 THBS1 Synonymous SNV L12L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.18 177597 chr15 39874396 39874396 T G rs41515347 THBS1 Nonsynonymous SNV S24A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.86 177598 chr14 79175683 79175683 A C NRXN3 Nonsynonymous SNV I76L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 177599 chr15 40094431 40094431 C T rs76578471 GPR176 Synonymous SNV L105L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 177600 chr3 37774229 37774229 G C rs143192797 ITGA9 Synonymous SNV L698L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.255 177601 chr3 37785454 37785454 G A rs140716372 ITGA9 Nonsynonymous SNV V788M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.6 177602 chr3 38037265 38037265 A T rs139825675 VILL Nonsynonymous SNV H126L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.82 177603 chr15 40865834 40865834 G A rs115655524 RPUSD2 Nonsynonymous SNV D277N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 177604 chr15 40913695 40913695 G C rs116093409 KNL1 Nonsynonymous SNV M411I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 177605 chr15 41136632 41136632 A C rs116764060 SPINT1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.898 177606 chr15 41148516 41148516 G A rs73400524 SPINT1 Nonsynonymous SNV S444N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 177607 chr15 41191646 41191646 C T rs615736 VPS18 Synonymous SNV A210A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 177608 chr14 91739284 91739284 G A rs938637415 CCDC88C Synonymous SNV S1924S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.831 177609 chr15 41797036 41797036 G A rs140642102 LTK Synonymous SNV L555L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.815 177610 chr15 41797465 41797465 T C rs140764829 LTK Synonymous SNV Q492Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 177611 chr15 41829316 41829316 G A rs61731588 RPAP1 Nonsynonymous SNV S3L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 177612 chr11 95509167 95509167 G A rs771972076 FAM76B Synonymous SNV D282D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.55 177613 chr15 42058900 42058900 A G rs116439074 MGA Nonsynonymous SNV T2665A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 177614 chr15 42108794 42108794 G T rs139378790 MAPKBP1 Nonsynonymous SNV V511L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.5 177615 chr15 42109841 42109841 A T rs144007199 MAPKBP1 Synonymous SNV T604T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.101 177616 chr14 24651210 24651210 T C rs779739207 IPO4 Nonsynonymous SNV I920V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.493 177617 chr15 42139634 42139634 A C rs140993094 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV T683P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 177618 chr14 24798393 24798393 C T rs61998518 ADCY4 Synonymous SNV S466S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.53 177619 chr15 42162157 42162157 T C rs8034735 SPTBN5 Nonsynonymous SNV H1912R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.007 177620 chr3 42264734 42264734 A C TRAK1 Synonymous SNV T694T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 177621 chr15 42179424 42179424 C T rs890499 SPTBN5 Nonsynonymous SNV R292K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 11.45 177622 chr2 197183399 197183399 G A rs781780695 HECW2 Nonsynonymous SNV R383W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 177623 chr15 42703537 42703537 T C rs28364543 CAPN3 Synonymous SNV V146V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.9 177624 chr15 42717098 42717098 G A rs16973246 ZNF106 Synonymous SNV R870R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.89 177625 chr14 31778350 31778350 T C rs777496202 HEATR5A Nonsynonymous SNV K1494E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 177626 chr15 42979547 42979547 A G rs191805921 STARD9 Nonsynonymous SNV N1924S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 177627 chr15 42980424 42980424 A G rs186711423 STARD9 Synonymous SNV L2216L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.147 177628 chr15 42982051 42982051 G C rs541125477 STARD9 Nonsynonymous SNV E2759Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.31 177629 chr11 108141988 108141988 T C rs139552233 ATM Nonsynonymous SNV S978P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 177630 chr14 21546568 21546568 C T ARHGEF40 Synonymous SNV L9L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.3 177631 chr15 43296052 43296052 G A rs34803922 UBR1 Synonymous SNV H1164H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.84 177632 chr15 43527020 43527020 T C rs76456763 TGM5 Nonsynonymous SNV K526E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 22.8 177633 chr4 38830190 38830190 G A rs374845111 TLR6 Nonsynonymous SNV T302M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 177634 chr15 43641181 43641181 A G rs77284705 ADAL Nonsynonymous SNV N237S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.034 177635 chr11 111590705 111590705 A G rs149194825 SIK2 Synonymous SNV Q491Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.717 177636 chr12 104200635 104200635 G A rs145829801 NT5DC3 Nonsynonymous SNV R156W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 177637 chr15 43748695 43748695 T C rs34823068 TP53BP1 Nonsynonymous SNV Q704R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.1 177638 chr15 43816543 43816543 T C rs116599479 MAP1A Nonsynonymous SNV Y958H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 177639 chr4 39450045 39450045 C T rs147499247 KLB Synonymous SNV Y958Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.221 177640 chr15 43818532 43818532 C G rs76831919 MAP1A Nonsynonymous SNV L1621V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 21.9 177641 chr15 43819302 43819302 T C rs78825265 MAP1A Synonymous SNV S1877S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.017 177642 chr15 43827387 43827387 C G rs113734744 PPIP5K1 Nonsynonymous SNV D1196H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 177643 chr15 44620975 44620975 G C rs143868548 CASC4 Nonsynonymous SNV E159Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 177644 chr15 44788617 44788617 C T rs871923 CTDSPL2 Nonsynonymous SNV A244V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 177645 chr14 23282374 23282374 G A rs139776370 SLC7A7 Synonymous SNV V78V 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 10.45 177646 chr15 45402685 45402685 T C rs559264063 DUOX2 Synonymous SNV E327E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.105 177647 chr14 23353896 23353896 G A rs45628834 REM2 Synonymous SNV T39T 0.006 0 0 2 7 0 0.005 0 0 0 0 0 5.25 177648 chr12 108618578 108618578 G T WSCD2 Nonsynonymous SNV V249L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.33 177649 chr14 23517513 23517513 - G rs752398646 CDH24 Frameshift insertion A675Gfs*182 0.001 0 0 0 1 0 0 0 0 0 0 0 177650 chr14 52456378 52456378 G C RTRAF Synonymous SNV T7T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 177651 chr15 48722907 48722907 G A rs363835 FBN1 Nonsynonymous SNV P2278S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.6 177652 chr15 48936811 48936811 C A rs25398 FBN1 Synonymous SNV A52A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 22.9 177653 chr15 49030665 49030665 T C rs150910683 CEP152 Synonymous SNV P1582P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.533 177654 chr15 49031200 49031201 AC - rs141600901 CEP152 V1404Ffs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 177655 chr15 49048128 49048128 A G rs16961557 CEP152 Nonsynonymous SNV V1106A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.002 177656 chr15 49061195 49061195 C A rs61737684 CEP152 Synonymous SNV L622L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.36 177657 chr15 49081189 49081189 T G rs201942310 CEP152 Nonsynonymous SNV K328Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.3 177658 chr15 49083481 49083481 T G rs199862615 CEP152 Nonsynonymous SNV K309Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.06 177659 chr15 49085583 49085583 A G rs201217824 CEP152 Nonsynonymous SNV I256T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.086 177660 chr15 49088254 49088254 C T rs200957146 CEP152 Nonsynonymous SNV S215N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.2 177661 chr15 49149988 49149988 T C rs146979278 SHC4 Nonsynonymous SNV N324S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.11 177662 chr15 50152401 50152401 A C rs16962987 ATP8B4 Nonsynonymous SNV V1190G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 177663 chr7 22330862 22330862 - A RAPGEF5 0.003 0 0 1 3 0 0.003 0 0 0 0 0 177664 chr3 49043198 49043198 C A rs201767744 P4HTM Synonymous SNV P415P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 177665 chr15 50519201 50519201 A G rs200071436 SLC27A2 Nonsynonymous SNV K375R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 177666 chr15 50534676 50534676 C T rs35670478 HDC Synonymous SNV V557V 0 0 0.01 0 0 0 0 3 0 0 1 0 8.051 177667 chr15 50786330 50786330 G A rs79646551 USP8 Synonymous SNV L731L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.08 177668 chr15 51766731 51766731 C T rs79980452 DMXL2 Synonymous SNV L1704L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 177669 chr15 52575038 52575038 T C rs114997740 MYO5C Nonsynonymous SNV I27V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 177670 chr15 52903828 52903828 C T rs114101684 FAM214A Synonymous SNV A123A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 177671 chr15 54307836 54307836 A C rs143506828 UNC13C Synonymous SNV T912T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 177672 chr15 55653107 55653107 A C rs371382453 CCPG1 Synonymous SNV L288L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.561 177673 chr15 55790414 55790414 G T rs16976354 DNAAF4 Nonsynonymous SNV N38K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.42 177674 chr15 56032696 56032696 T A rs534916575 PRTG Nonsynonymous SNV Y94F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 177675 chr12 113824881 113824881 G T rs574060458 PLBD2 Nonsynonymous SNV V444F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.319 177676 chr7 31617906 31617906 C T rs372420153 ITPRID1 Nonsynonymous SNV P343L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.598 177677 chr15 57730557 57730557 C G rs1280393 CGNL1 Synonymous SNV P120P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.924 177678 chr15 57731268 57731268 T A rs1280394 CGNL1 Synonymous SNV I357I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 177679 chr15 40627374 40627374 C A rs142452705 CCDC9B Synonymous SNV P530P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.99 177680 chr14 39628728 39628728 C T rs749257405 TRAPPC6B Synonymous SNV L36L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.02 177681 chr4 71655254 71655254 C T rs376050610 RUFY3 Nonsynonymous SNV R428C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 177682 chr15 58983358 58983358 T C rs114063257 HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.133 177683 chr15 59063774 59063774 G A rs201611014 MINDY2 Synonymous SNV R60R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.541 177684 chr12 121164918 121164918 C T rs121908003 ACADS Nonsynonymous SNV R46W 0.008 0.013 0 0 9 5 0 0 0 0 0 0 Pathogenic/Likely pathogenic 34 177685 chr15 62535537 62535537 - TG rs144091797 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 177686 chr15 62539304 62539304 G A rs116584675 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 3.754 177687 chr15 63866584 63866584 C A rs34776764 USP3 Nonsynonymous SNV P316T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 26.4 177688 chr15 63941948 63941948 A G rs61738787 HERC1 Synonymous SNV L3575L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.13 177689 chr15 65108136 65108136 C - rs141043451 PIF1 R627Efs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 177690 chr15 65108532 65108532 C G rs141363784 PIF1 Nonsynonymous SNV A631P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.598 177691 chr15 65489434 65489434 G A rs35385195 CILP Synonymous SNV L1064L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 2.196 177692 chr15 65625683 65625683 C T rs79857588 IGDCC3 Synonymous SNV T298T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.7 177693 chr15 66206075 66206075 C T rs368354293 MEGF11 Nonsynonymous SNV G904S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 177694 chr7 44432028 44432028 C T rs778838496 NUDCD3 Synonymous SNV E281E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.92 177695 chr15 66624260 66624260 G A rs115616821 DIS3L Nonsynonymous SNV M735I 0.001 0 0.014 0 1 0 0 4 0 0 1 0 22.8 177696 chr15 68650913 68650913 G A rs61729771 ITGA11 Synonymous SNV T161T 0 0 0.014 0 0 0 0 4 0 0 1 0 11.6 177697 chr15 42680041 42680041 C T rs199718635 CAPN3 Nonsynonymous SNV R197C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 177698 chr15 69689440 69689440 C T rs1013888 LOC145694 0 0 0.014 0 0 0 0 4 0 0 0 0 1.04 177699 chr15 43482558 43482558 T C rs149681338 CCNDBP1 Nonsynonymous SNV V155A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 177700 chr15 70347553 70347553 C T rs201791846 TLE3 Synonymous SNV P401P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 177701 chr12 124270354 124270354 C A DNAH10 Nonsynonymous SNV A431D 0.007 0.013 0 0 8 5 0 0 0 0 0 0 33 177702 chr4 85645721 85645721 T G WDFY3 Synonymous SNV V2433V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.017 177703 chr12 124330597 124330597 C T rs757448928 DNAH10 Nonsynonymous SNV R1786C 0.007 0.013 0 0 8 5 0 0 0 0 0 0 32 177704 chr15 72699549 72699549 A T rs16956904 TMEM202 Nonsynonymous SNV M204L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.748 177705 chr11 125616571 125616571 T A PATE1 Nonsynonymous SNV L23H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 177706 chr15 73052856 73052856 C T rs192015434 ADPGK Nonsynonymous SNV G57S 0 0 0.003 0 0 0 0 1 0 0 0 0 35 177707 chr15 73076353 73076353 A C rs78022427 ADPGK-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 11.52 177708 chr15 74219599 74219599 T G rs78803776 LOXL1 Nonsynonymous SNV S159A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 20.6 177709 chr15 74290381 74290381 C T rs147696900 PML Nonsynonymous SNV R56C 0 0 0.003 0 0 0 0 1 0 0 0 0 21 177710 chr15 74554789 74554789 C T rs114996696 CCDC33 Nonsynonymous SNV T65I 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 25.1 177711 chr4 89042890 89042890 T C ABCG2 Nonsynonymous SNV I196V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 177712 chr10 27335297 27335297 T A rs193178384 ANKRD26 Nonsynonymous SNV D656V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.6 177713 chr15 74920313 74920313 C T rs55812509 CLK3 Synonymous SNV L497L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 177714 chr4 89385056 89385056 T A rs374092530 HERC5 Nonsynonymous SNV H277Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.4 177715 chr3 87322525 87322525 G A POU1F1 Synonymous SNV N62N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.17 177716 chr15 75320725 75320725 G T rs34029958 PPCDC Synonymous SNV V22V 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 10.88 177717 chr15 75643668 75643668 G A rs144014939 NEIL1 Synonymous SNV E42E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.401 177718 chr15 75652470 75652470 T C rs145112584 MAN2C1 Nonsynonymous SNV Q457R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.173 177719 chr15 75890842 75890842 T C rs141206805 SNUPN Nonsynonymous SNV K314E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 177720 chr15 77406507 77406507 C T rs61732437 PEAK1 Synonymous SNV Q1744Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.818 177721 chr15 77471226 77471226 T G rs61737284 PEAK1 Nonsynonymous SNV M1015L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 177722 chr3 98235553 98235553 G A rs141729450 CLDND1 Nonsynonymous SNV H143Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 177723 chr15 78558630 78558630 A G rs7179906 DNAJA4 Nonsynonymous SNV T16A 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 2.846 177724 chr15 78764187 78764187 A G rs35999247 IREB2 Synonymous SNV K18K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.198 177725 chr14 90756862 90756862 C G rs45462994 NRDE2 Nonsynonymous SNV L644F 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 25.6 177726 chr15 80845055 80845055 C T rs139389870 ARNT2 Synonymous SNV S343S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.06 177727 chr15 81172064 81172064 G A rs35541581 CEMIP Synonymous SNV L83L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 0.36 177728 chr15 81294789 81294789 C G rs140854700 TLNRD1 Synonymous SNV P59P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.84 177729 chr15 81641872 81641872 G T rs61740148 TMC3 Nonsynonymous SNV P374T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 177730 chr15 83349637 83349637 G A rs34629393 AP3B2 Synonymous SNV S209S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.62 177731 chr12 13768571 13768571 G A rs142935139 GRIN2B Synonymous SNV Y452Y 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Likely benign 6.803 177732 chr15 85159568 85159568 T C rs777591692 ZSCAN2 Synonymous SNV P145P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.534 177733 chr14 94121687 94121687 C G rs559742798 UNC79 Synonymous SNV L1992L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.31 177734 chr15 85327333 85327333 G A rs144163979 ZNF592 Nonsynonymous SNV G476D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.123 177735 chr15 63092656 63092656 C T rs575362362 TLN2 Synonymous SNV D2108D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.07 177736 chr15 63092868 63092868 T C TLN2 Nonsynonymous SNV V2126A 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 177737 chr10 46967387 46967387 G A rs575220001 LOC101927699 0 0 0 1 0 0 0.003 0 0 0 0 0 3.215 177738 chr2 237146409 237146409 C T rs149965726 ASB18 Synonymous SNV Q173Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.82 177739 chr12 1742034 1742034 G A rs769031292 WNT5B Synonymous SNV A97A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.54 177740 chr15 86123085 86123085 A G rs56156165 AKAP13 Nonsynonymous SNV K596E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.341 177741 chr3 112357778 112357778 C G rs973336974 CCDC80 Nonsynonymous SNV E325D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.271 177742 chr15 89008072 89008072 T G rs16941885 MRPL46 Synonymous SNV R151R 0 0 0.01 0 0 0 0 3 0 0 0 0 7.711 177743 chr15 89008917 89008917 G A rs16941888 MRPL46 Nonsynonymous SNV H106Y 0 0 0.01 0 0 0 0 3 0 0 0 0 3.389 177744 chr15 89010976 89010976 C T rs16941904 MRPS11 Nonsynonymous SNV R10W 0 0 0.01 0 0 0 0 3 0 0 0 0 14.43 177745 chr15 89015930 89015930 T C rs9920196 MRPS11 Synonymous SNV I84I 0 0 0.01 0 0 0 0 3 0 0 0 0 0.491 177746 chr2 239072994 239072994 C T rs114568419 ERFE Nonsynonymous SNV R294C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 32 177747 chr15 66832446 66832446 C G rs144273335 ZWILCH Nonsynonymous SNV Q415E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.28 177748 chr15 89869974 89869974 G - rs2307434 MIR6766 0 0 0.003 0 0 0 0 1 0 0 0 0 177749 chr15 90171683 90171683 C G rs137993810 KIF7 Synonymous SNV P1333P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.863 177750 chr15 90281452 90281452 G A rs35389334 WDR93 Nonsynonymous SNV R621H 0 0 0.007 0 0 0 0 2 0 0 0 0 4.486 177751 chr15 90294259 90294259 G A rs114552825 MESP1 Synonymous SNV S68S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.49 177752 chr15 90320259 90320259 C T rs71647807 MESP2 Nonsynonymous SNV S224F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.4 177753 chr15 90334309 90334309 G T rs74766672 ANPEP Synonymous SNV T848T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.879 177754 chr2 241835204 241835204 C T rs371171789 MAB21L4 Nonsynonymous SNV A71T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.82 177755 chr15 90628594 90628594 C T rs61737002 IDH2 Synonymous SNV T201T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.98 177756 chr15 90771446 90771446 A G rs112494300 SEMA4B Synonymous SNV T557T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 177757 chr15 90784165 90784165 G A rs78054010 GDPGP1 Nonsynonymous SNV E9K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.04 177758 chr15 90784376 90784376 G A rs79056745 GDPGP1 Nonsynonymous SNV R79H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.315 177759 chr15 28202766 28202766 G A rs151225947 OCA2 Synonymous SNV H560H 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 Benign/Likely benign 3.856 177760 chr4 143067005 143067005 A T rs148165196 INPP4B Nonsynonymous SNV S570T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 177761 chr15 91447509 91447509 C T rs2677743 MAN2A2 Synonymous SNV L24L 0 0 0.01 0 0 0 0 3 0 0 1 0 15.2 177762 chr15 91450693 91450693 C A rs74901948 MAN2A2 Synonymous SNV P388P 0 0 0.007 0 0 0 0 2 0 0 0 0 16.17 177763 chr15 91454132 91454132 C T rs2677750 MAN2A2 Synonymous SNV L606L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 177764 chr15 91454665 91454665 C T rs1266494 MAN2A2 Nonsynonymous SNV S665F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 177765 chr15 75650822 75650822 T C rs143005170 MAN2C1 Nonsynonymous SNV Y696C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.6 177766 chr15 91550271 91550271 T C rs76867988 VPS33B Synonymous SNV A176A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.012 177767 chr7 100281709 100281709 G A rs199620213 GIGYF1 Nonsynonymous SNV P601L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.272 177768 chr15 77320970 77320970 G A rs762291063 PSTPIP1 Nonsynonymous SNV G165S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.47 177769 chr15 93339291 93339291 T A rs79319943 ASB9P1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.26 177770 chr15 93339496 93339496 C T rs75197417 ASB9P1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.281 177771 chr15 93339709 93339709 G T rs112182809 ASB9P1 0 0 0.01 0 0 0 0 3 0 0 0 0 2.229 177772 chr15 93339850 93339850 A G rs113878460 ASB9P1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.809 177773 chr15 93447633 93447633 G T rs542964584 MIR3175 0 0 0.003 0 0 0 0 1 0 0 0 0 4.665 177774 chr15 93447674 93447674 A G rs114901994 MIR3175 0 0 0.003 0 0 0 0 1 0 0 0 0 2.561 177775 chr15 93547852 93547852 A G rs35339954 CHD2 Synonymous SNV K1428K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.525 177776 chr15 99251098 99251098 G A rs35385418 IGF1R Synonymous SNV R134R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.963 177777 chr16 1004369 1004369 A G rs35663121 LMF1 Nonsynonymous SNV V55A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.48 177778 chr16 10576025 10576025 C A rs151012825 ATF7IP2 Synonymous SNV V656V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 177779 chr16 10989551 10989551 C T rs2229318 CIITA Synonymous SNV C75C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.25 177780 chr3 9876800 9876800 G A rs200768914 TTLL3 Nonsynonymous SNV R792Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 177781 chr16 11071094 11071094 G A rs115889246 CLEC16A Synonymous SNV R245R 0 0 0.007 0 0 0 0 2 0 0 1 0 9.036 177782 chr11 33566539 33566539 C G rs199569336 KIAA1549L Synonymous SNV V1000V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.655 177783 chr16 11272391 11272391 G A rs114461101 CLEC16A Synonymous SNV L1002L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 177784 chr15 80867395 80867395 T A ARNT2 Nonsynonymous SNV I486N 0 0.003 0 0 0 1 0 0 0 0 0 0 26 177785 chr16 12371875 12371875 C T rs16959111 SNX29 Synonymous SNV Y588Y 0 0 0.007 0 0 0 0 2 0 0 1 0 6.932 177786 chr16 1261550 1261550 C T rs57105517 CACNA1H Nonsynonymous SNV R1474W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.9 177787 chr16 1261963 1261963 C T rs200542719 CACNA1H Synonymous SNV N1528N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.32 177788 chr3 10967748 10967748 G A rs140515744 SLC6A11 Synonymous SNV P393P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.707 177789 chr16 1401451 1401451 C A rs375861067 TSR3 Synonymous SNV L87L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 177790 chr16 1440667 1440667 C G rs77660674 UNKL Nonsynonymous SNV G351A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.339 177791 chr16 1536047 1536047 T C rs59554810 PTX4 Nonsynonymous SNV I439V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.073 177792 chr16 1536117 1536117 G A rs58192896 PTX4 Synonymous SNV F415F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.039 177793 chr16 1536506 1536506 C T rs9926625 PTX4 Nonsynonymous SNV V286I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 2.592 177794 chr3 13663365 13663365 C T rs115426944 FBLN2 Nonsynonymous SNV T749I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 177795 chr16 1544357 1544357 C T rs9934280 TELO2 Synonymous SNV G25G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 14.07 177796 chr16 15842005 15842005 G A rs34287137 MYH11 Synonymous SNV F693F 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 8.243 177797 chr16 16251531 16251531 C T rs58694313 ABCC6 Nonsynonymous SNV A1291T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.7 177798 chr16 16256997 16256997 T C ABCC6 Nonsynonymous SNV Y1120C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 177799 chr15 43662060 43662060 G A rs779852952 ZSCAN29 Stop gain R18X 0.001 0 0 4 1 0 0.01 0 0 0 0 0 29.1 177800 chr3 136667116 136667116 G A rs148197442 NCK1 Nonsynonymous SNV V255I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 177801 chr15 89390491 89390491 C T rs780424423 ACAN Nonsynonymous SNV R483C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.4 177802 chr16 17232233 17232233 C T rs34653270 XYLT1 Synonymous SNV P581P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.82 177803 chr16 17232446 17232446 G T rs8047782 LOC102723692 0 0 0.003 0 0 0 0 1 0 0 0 0 4.39 177804 chr15 31294933 31294933 A G rs201888584 TRPM1 Nonsynonymous SNV C1341R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.992 177805 chr16 19278371 19278371 G C rs35992990 SYT17 Synonymous SNV V462V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 177806 chr3 25777537 25777537 C T rs765889601 NGLY1 Stop gain W327X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 45 177807 chr16 19455461 19455461 G A rs115989381 TMC5 Nonsynonymous SNV V283M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.258 177808 chr3 140409938 140409938 T C rs199879197 TRIM42 Synonymous SNV N663N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.244 177809 chr16 19474685 19474685 C A rs114039610 TMC5 Nonsynonymous SNV S165Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 177810 chr16 19729767 19729767 A G rs150132758 IQCK Nonsynonymous SNV T47A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 177811 chr16 2028189 2028189 C T rs148907614 TBL3 Nonsynonymous SNV A701V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 177812 chr16 2034276 2034276 G C rs535377905 GFER Synonymous SNV P19P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.63 177813 chr7 100682038 100682038 A G rs142442389 MUC17 Synonymous SNV P2447P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.513 177814 chr15 50836831 50836831 C A rs375983593 USP50 Synonymous SNV P67P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.98 177815 chr16 20635521 20635521 A G rs16970453 ACSM1 Nonsynonymous SNV I515T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 177816 chr7 102036928 102036928 C G rs782553394 PRKRIP1 Nonsynonymous SNV P24A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.8 177817 chr16 20681245 20681245 A C rs16970511 ACSM1 Nonsynonymous SNV I272M 0 0 0.003 0 0 0 0 1 0 0 0 0 21 177818 chr16 20781501 20781501 G A rs368788399 ACSM3 Nonsynonymous SNV D49N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 177819 chr16 20788852 20788852 T C rs5714 ACSM3 Synonymous SNV I196I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.299 177820 chr16 20792435 20792435 C A rs7196188 ACSM3 Nonsynonymous SNV P308T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.17 177821 chr7 104753174 104753174 G A rs775333891 KMT2E Synonymous SNV G1657G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.199 177822 chr10 94269831 94269831 G A rs374934718 IDE Synonymous SNV H252H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 8.534 177823 chr15 91017718 91017718 C T rs2301831 IQGAP1 Synonymous SNV I859I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.69 177824 chr16 20963765 20963765 G C rs7199676 DNAH3 Synonymous SNV T3680T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 6.506 177825 chr16 20981226 20981226 G C rs76979211 DNAH3 Nonsynonymous SNV I2736M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.1 177826 chr16 21078693 21078693 T A rs861424 DNAH3 Synonymous SNV A1097A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.228 177827 chr16 2108847 2108847 G A rs45517141 TSC2 Synonymous SNV P116P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.953 177828 chr15 53081393 53081393 C T rs147745937 ONECUT1 Nonsynonymous SNV G230E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 177829 chr16 21108692 21108692 T C rs16970875 DNAH3 Synonymous SNV S837S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 177830 chr16 21108719 21108719 C G rs76700776 DNAH3 Synonymous SNV S828S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 177831 chr16 21128555 21128555 C T rs79106276 DNAH3 Nonsynonymous SNV V535I 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.16 177832 chr16 21132127 21132127 G A rs16970910 DNAH3 Nonsynonymous SNV R545W 0 0 0.003 0 0 0 0 1 0 0 0 0 5.897 177833 chr16 21157406 21157406 C T rs58508496 DNAH3 Nonsynonymous SNV A41T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.002 177834 chr16 21185354 21185354 T C rs35345508 TMEM159 Nonsynonymous SNV F97L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.377 177835 chr16 21217085 21217085 T G rs35162028 ZP2 Synonymous SNV P165P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.84 177836 chr10 95930939 95930939 C T rs61751493 PLCE1 Nonsynonymous SNV R191C 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 177837 chr16 2135299 2135299 C T rs45517354 TSC2 Synonymous SNV A1302A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.92 177838 chr16 2138111 2138111 G A rs139779505 TSC2 Nonsynonymous SNV V1467M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.6 177839 chr7 111512117 111512117 G A rs201317614 DOCK4 Synonymous SNV S652S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 177840 chr16 2140972 2140972 G C rs77634115 PKD1 Synonymous SNV R3971R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.716 177841 chr16 2147357 2147357 G A rs7194935 PKD1 Synonymous SNV A3455A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 7.002 177842 chr15 41275091 41275091 G A rs142701064 INO80 Synonymous SNV A1474A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.03 177843 chr16 22189470 22189470 G C rs150601790 SDR42E2 Synonymous SNV T407T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.398 177844 chr16 22262526 22262526 C T rs55959085 EEF2K Synonymous SNV Y167Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 177845 chr16 2231302 2231302 G T rs191978060 CASKIN1 Synonymous SNV T689T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 177846 chr16 230817 230817 C T rs80294025 HBQ1 Nonsynonymous SNV A83V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 177847 chr7 122342296 122342296 C T RNF148 Nonsynonymous SNV G170E 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 177848 chr15 42278168 42278168 C T rs118171374 PLA2G4E Nonsynonymous SNV E691K 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 15.71 177849 chr16 23716326 23716326 C T rs144880499 ERN2 Synonymous SNV P244P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 177850 chr16 24572946 24572946 A C rs16973831 RBBP6 Synonymous SNV A287A 0 0 0.014 0 0 0 0 4 0 0 0 0 0.382 177851 chr16 24888677 24888677 G A rs9932619 SLC5A11 Synonymous SNV T122T 0.002 0 0.007 0 2 0 0 2 0 0 1 0 2.487 177852 chr16 24902296 24902296 C T rs111658035 SLC5A11 Synonymous SNV A187A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.26 177853 chr16 25251479 25251479 G A rs74826042 ZKSCAN2 Synonymous SNV T854T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.452 177854 chr16 2578131 2578131 C G rs35816046 AMDHD2 Synonymous SNV L233L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.553 177855 chr16 27078462 27078462 T C rs114324679 C16orf82 Nonsynonymous SNV V49A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.526 177856 chr16 27078545 27078545 C T rs185409807 C16orf82 Nonsynonymous SNV P77S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.657 177857 chr16 27078705 27078705 T C rs115398674 C16orf82 Nonsynonymous SNV I130T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.345 177858 chr15 43819862 43819862 C T rs190284479 MAP1A Nonsynonymous SNV P2064L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.5 177859 chr16 27374408 27374408 G A rs3024677 IL4R Nonsynonymous SNV V579I 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Benign 0.007 177860 chr16 27374416 27374416 G A rs141504450 IL4R Synonymous SNV A581A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.866 177861 chr16 27374447 27374447 G T rs138392496 IL4R Nonsynonymous SNV V592L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 177862 chr16 27375070 27375070 T C rs3024679 IL4R Synonymous SNV P799P 0.002 0 0.007 0 2 0 0 2 1 0 1 0 0.037 177863 chr16 1269114 1269114 G A rs554063452 CACNA1H Nonsynonymous SNV R2005Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 177864 chr16 27506168 27506168 G A rs74016085 GTF3C1 Synonymous SNV F898F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.9 177865 chr16 2762637 2762637 A G rs61734617 PRSS27 Nonsynonymous SNV L184S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 177866 chr16 27720043 27720043 G A rs74016989 KIAA0556 Synonymous SNV R469R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.876 177867 chr16 27751748 27751748 C T rs60859318 KIAA0556 Synonymous SNV D710D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.084 177868 chr16 27751984 27751984 C T rs116668900 KIAA0556 Nonsynonymous SNV P789L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.472 177869 chr16 27761296 27761296 G A rs58619984 KIAA0556 Synonymous SNV P1005P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 4.631 177870 chr16 27772754 27772754 G A rs144489867 KIAA0556 Nonsynonymous SNV A1218T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.6 177871 chr16 2810399 2810399 A G rs79975303 SRRM2 Nonsynonymous SNV S311G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 177872 chr16 28117487 28117487 C T rs35178107 XPO6 Synonymous SNV R887R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.27 177873 chr15 45658284 45658284 G C GATM Nonsynonymous SNV P313R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 177874 chr16 28489120 28489120 G A rs890026046 CLN3 Synonymous SNV L279L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.29 177875 chr16 1394647 1394647 G A rs114038997 BAIAP3 Nonsynonymous SNV V533I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.241 177876 chr16 1486742 1486742 G A CCDC154 Nonsynonymous SNV T454I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.981 177877 chr16 28844169 28844169 C T rs115538552 ATXN2L Synonymous SNV F546F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 177878 chr16 28936427 28936427 C A rs115529621 RABEP2 Nonsynonymous SNV A20S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.19 177879 chr16 2949122 2949122 G T rs149108052 FLYWCH2 Nonsynonymous SNV C132F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.572 177880 chr16 29755702 29755702 G A rs35764197 C16orf54 Nonsynonymous SNV R191W 0 0 0.003 0 0 0 0 1 0 0 0 0 25 177881 chr16 29791425 29791425 T A rs61743784 ZG16 Synonymous SNV G63G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.771 177882 chr16 29810322 29810322 G C rs11545431 KIF22 Synonymous SNV S124S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.123 177883 chr16 29816194 29816194 G A rs144222256 KIF22 Synonymous SNV Q511Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.654 177884 chr16 29979430 29979430 T C rs79505862 TMEM219 Nonsynonymous SNV V147A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.009 177885 chr16 29996590 29996590 C T rs55656713 TAOK2 Synonymous SNV S493S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.47 177886 chr16 30004990 30004990 C T rs78703232 HIRIP3 Nonsynonymous SNV R460Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 177887 chr11 55322281 55322281 G T OR4C15 Nonsynonymous SNV V113F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.04 177888 chr16 30035072 30035072 C A rs113595171 C16orf92 Nonsynonymous SNV A30E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.691 177889 chr16 3025552 3025552 G A rs4149797 PKMYT1 Synonymous SNV L145L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.45 177890 chr16 30407177 30407177 A G rs7200143 ZNF48 Nonsynonymous SNV Q21R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 177891 chr16 30408922 30408922 T C rs139114623 ZNF48 Synonymous SNV C117C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 177892 chr16 30409456 30409456 T C rs7200187 ZNF48 Synonymous SNV R172R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.125 177893 chr16 30516565 30516565 C A rs34838942 ITGAL Nonsynonymous SNV Q746K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.048 177894 chr16 30536513 30536513 G A rs145451015 ZNF768 Synonymous SNV P316P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.22 177895 chr16 3063483 3063483 C T rs145786872 CLDN9 Synonymous SNV I40I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 177896 chr16 30666480 30666480 A G rs73536441 PRR14 Nonsynonymous SNV T397A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 177897 chr7 140476834 140476834 T C rs552471935 BRAF Synonymous SNV Q524Q 0 0 0 2 0 0 0.005 0 0 0 0 0 2.15 177898 chr16 30733600 30733600 G A rs34734612 SRCAP Synonymous SNV P1233P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.9 177899 chr16 3076393 3076393 C T rs8057262 THOC6 Synonymous SNV N130N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.14 177900 chr3 190030683 190030683 C T rs56271702 CLDN1 Synonymous SNV G122G 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 17.67 177901 chr16 30795295 30795295 A C rs200239787 ZNF629 Synonymous SNV A118A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 177902 chr16 309516 309516 C T rs56824153 FAM234A Synonymous SNV N101N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 177903 chr3 190127737 190127737 A G rs35041121 CLDN16 Nonsynonymous SNV Y277C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 177904 chr16 31072390 31072390 C T rs74720434 ZNF668 Synonymous SNV X620X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.329 177905 chr16 3108258 3108258 G T rs148242288 MMP25 Nonsynonymous SNV E361D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 177906 chr16 31088878 31088878 C G rs148938370 ZNF646 Nonsynonymous SNV F411L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 177907 chr16 31095603 31095603 G A rs373874079 PRSS53 Synonymous SNV A493A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 177908 chr16 31152858 31152858 A G rs143680005 PRSS36 Synonymous SNV G606G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.399 177909 chr3 48577167 48577167 G A rs758109236 PFKFB4 Nonsynonymous SNV A139V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 177910 chr16 3140601 3140601 C T rs140690870 ZSCAN10 Synonymous SNV E141E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.28 177911 chr16 31470811 31470811 C T rs202112554 ARMC5 Nonsynonymous SNV A21V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 177912 chr16 3187431 3187431 A G rs7197270 ZNF213 Synonymous SNV Q50Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.013 177913 chr16 3306357 3306357 G T rs139899201 MEFV Synonymous SNV I77I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.441 177914 chr16 3306491 3306491 C A rs11466016 MEFV Nonsynonymous SNV V33L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.065 177915 chr16 333352 333352 C G rs45444994 PDIA2 Synonymous SNV A61A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.633 177916 chr16 348042 348042 C A rs1805103 AXIN1 Synonymous SNV G488G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.18 177917 chr16 3532546 3532546 C T rs369347555 NAA60 Synonymous SNV V30V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 177918 chr16 3613451 3613451 C T rs199475937 NLRC3 Nonsynonymous SNV R496K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.896 177919 chr12 6975214 6975214 C G USP5 Nonsynonymous SNV I850M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 21.1 177920 chr16 3647426 3647426 T C rs150547487 SLX4 Nonsynonymous SNV Y546C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 177921 chr16 4043415 4043415 T C rs113187435 ADCY9 Nonsynonymous SNV S661G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.59 177922 chr16 419086 419086 G C rs141675853 MRPL28 Synonymous SNV L141L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.328 177923 chr16 4310217 4310217 G A rs79642041 TFAP4 Synonymous SNV H232H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.072 177924 chr16 4386844 4386844 C T rs112926217 GLIS2 Synonymous SNV P298P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.63 177925 chr16 4408366 4408366 A T rs143862997 CORO7, CORO7-PAM16 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 177926 chr16 4409513 4409513 G A rs113640236 CORO7, CORO7-PAM16 Nonsynonymous SNV P655S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.263 177927 chr16 2376271 2376271 C T rs201777730 ABCA3 Nonsynonymous SNV R20Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 177928 chr12 7252355 7252355 C T rs200560389 C1RL Nonsynonymous SNV G222E 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 9.104 177929 chr15 67459181 67459181 C T rs769225687 SMAD3 Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 177930 chr16 2506854 2506854 A G rs763743574 CCNF Nonsynonymous SNV S424G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 177931 chr16 2523768 2523792 GCGGTGGGTGCGCGCGGCGAGGCGC - rs775513343 NTN3 V470Afs*117 0 0.003 0 0 0 1 0 0 0 0 0 0 177932 chr16 4787885 4787885 G C rs755789871 C16orf71 Nonsynonymous SNV D72H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 177933 chr16 48227889 48227889 G A rs141897765 ABCC11 Synonymous SNV Y803Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.159 177934 chr16 4833551 4833551 T C rs6500633 SEPTIN12 Nonsynonymous SNV Q167R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 177935 chr16 4920569 4920569 C T rs114733160 UBN1 Nonsynonymous SNV A455V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.8 177936 chr16 4925084 4925084 A C rs141506746 UBN1 Synonymous SNV S891S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.001 177937 chr16 4945405 4945405 G C rs147975281 PPL Nonsynonymous SNV Q367E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.43 177938 chr16 49671518 49671518 A G rs13336762 ZNF423 Synonymous SNV N398N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.002 177939 chr16 50339453 50339453 C T rs75931438 ADCY7 Synonymous SNV Y545Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.138 177940 chr16 5050678 5050678 C T rs61745575 SEC14L5 Synonymous SNV L331L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.35 177941 chr4 2172884 2172884 C T POLN Nonsynonymous SNV E467K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 177942 chr16 50746063 50746063 C T rs751417475 NOD2 Synonymous SNV Y720Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.115 177943 chr16 5115811 5115811 G A rs35751409 C16orf89 Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.295 177944 chr16 2880286 2880286 T G rs542139594 ZG16B Nonsynonymous SNV M13R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 177945 chr16 53076055 53076055 T G rs74021638 LOC105371267 0 0 0.007 0 0 0 0 2 0 0 0 0 5.675 177946 chr16 54967209 54967209 C T rs7188328 IRX5 Synonymous SNV P291P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.638 177947 chr16 55559513 55559513 G A rs61744474 LPCAT2 Nonsynonymous SNV V89I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.21 177948 chr16 55600963 55600963 G C rs76369384 CAPNS2 Nonsynonymous SNV D99H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 177949 chr15 74327949 74327949 A G rs140648301 PML Nonsynonymous SNV Q668R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.417 177950 chr7 156437271 156437271 C T rs775565519 RNF32 Stop gain R32X 0 0 0 1 0 0 0.003 0 0 0 0 0 32 177951 chr16 56508765 56508765 G A rs28421249 OGFOD1 Synonymous SNV G399G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.011 177952 chr16 56530898 56530898 C A BBS2 Nonsynonymous SNV A631S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 177953 chr16 56857753 56857753 G A rs8056371 NUP93 Synonymous SNV E140E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.66 177954 chr5 78378708 78378708 T C rs201898332 BHMT2 Nonsynonymous SNV M112T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 177955 chr16 3085515 3085515 C T rs112661350 LOC100128770 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 3.824 177956 chr16 57095434 57095434 C T rs139249521 NLRC5 Nonsynonymous SNV T1325M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 177957 chr16 57416326 57416326 C T rs142113631 CX3CL1 Synonymous SNV S107S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.807 177958 chr16 57468110 57468110 G A rs77773186 CIAPIN1 Synonymous SNV P121P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.603 177959 chr16 57996883 57996883 C G rs200332871 CNGB1 Nonsynonymous SNV A126P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 177960 chr16 31435277 31435277 G C rs144344450 ITGAD Nonsynonymous SNV E1054Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.796 177961 chr16 58011918 58011918 C T rs111685691 TEPP Synonymous SNV C121C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 177962 chr16 31501451 31501451 G A rs147697689 SLC5A2 Synonymous SNV R564R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.06 177963 chr16 58031996 58031996 G A rs115738968 ZNF319 Synonymous SNV P58P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.01 177964 chr16 3189015 3189015 C T rs527438002 ZNF213 Nonsynonymous SNV R213W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 177965 chr15 81234193 81234193 G A rs140501363 CEMIP Synonymous SNV L1137L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.301 177966 chr15 81517940 81517940 C T rs199906235 IL16 Nonsynonymous SNV S67L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 177967 chr16 58756075 58756075 G A rs75336120 GOT2 Synonymous SNV S118S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.41 177968 chr16 58757695 58757695 G A rs8059441 GOT2 Synonymous SNV Y67Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.103 177969 chr16 59788729 59788729 G T APOOP5 0 0 0.003 0 0 0 0 1 0 0 0 0 5.565 177970 chr16 3433264 3433264 C T rs752388614 ZSCAN32 Nonsynonymous SNV R272H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 177971 chr16 617469 617469 A C rs79179803 NHLRC4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 177972 chr16 618334 618334 C G rs79767735 NHLRC4 Nonsynonymous SNV A96G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 177973 chr16 66527065 66527065 C T rs115852696 BEAN1 Synonymous SNV T116T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.05 177974 chr16 66527099 66527099 A G rs9928279 BEAN1 Nonsynonymous SNV K128E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.023 177975 chr11 118011998 118011998 C G rs773855642 SCN4B Nonsynonymous SNV V39L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.467 177976 chr16 66621872 66621872 A G rs75451199 CMTM2 Synonymous SNV Q146Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 177977 chr16 66857451 66857451 G A rs363212 NAE1 Nonsynonymous SNV S12F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 177978 chr16 66918334 66918334 A G rs138319082 PDP2 Synonymous SNV L49L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.325 177979 chr16 66946718 66946718 G A rs76542431 CDH16 Synonymous SNV L280L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.534 177980 chr11 118130818 118130818 G A rs562108254 MPZL2 Nonsynonymous SNV R179W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 177981 chr3 109050839 109050839 G T rs770271945 DPPA4 Nonsynonymous SNV P21H 0.003 0 0 0 3 0 0 0 0 0 0 0 13.09 177982 chr16 67221494 67221494 C T rs79820293 EXOC3L1 Nonsynonymous SNV R225H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 34 177983 chr16 67229827 67229827 C T rs3730404 E2F4 Synonymous SNV S317S 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 8.751 177984 chr11 58919361 58919361 - A FAM111A Frameshift insertion N75Kfs*2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 177985 chr16 3860700 3860700 C T rs144344016 CREBBP Synonymous SNV V293V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.96 177986 chr16 396433 396433 T A AXIN1 Nonsynonymous SNV Y198F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 177987 chr3 111835594 111835594 C T rs199757327 C3orf52 Stop gain Q168X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 177988 chr16 67876806 67876826 CAGCAGCAGCAGCAGCAACAG - rs766753650 THAP11 Q126_Q132del 0 0 0.007 0 0 0 0 2 0 0 0 0 177989 chr5 96065339 96065339 A C CAST Synonymous SNV A29A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.752 177990 chr16 67981688 67981688 C T rs1802307 SLC12A4 Synonymous SNV A619A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 177991 chr16 67983759 67983759 G A rs374992389 SLC12A4 Synonymous SNV I566I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 177992 chr13 103388721 103388721 C T rs927798070 CCDC168 Nonsynonymous SNV V4776I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 177993 chr8 11666124 11666124 C G rs186055179 FDFT1 Nonsynonymous SNV T33S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.42 177994 chr16 68156099 68156099 C A rs73612692 NFATC3 Nonsynonymous SNV P105T 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 177995 chr16 68264212 68264212 C T rs35355998 ESRP2 Nonsynonymous SNV A701T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.89 177996 chr16 68265472 68265472 C T rs56323755 ESRP2 Synonymous SNV T485T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.43 177997 chr16 68331194 68331194 T C rs62636646 SLC7A6 Nonsynonymous SNV V504A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.496 177998 chr4 15443906 15443906 T C rs752111335 C1QTNF7 Nonsynonymous SNV I125T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 177999 chr16 68344760 68344760 C T rs35800405 SLC7A6OS Nonsynonymous SNV V24M 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 29.1 178000 chr15 86262383 86262383 G A rs79991499 AKAP13 Synonymous SNV A647A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 12.82 178001 chr16 685708 685708 C T rs13335061 METTL26 Synonymous SNV T88T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 178002 chr5 101816007 101816007 A G rs140307604 SLCO6A1 Nonsynonymous SNV F164L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 19.17 178003 chr16 69149097 69149097 A G rs2232232 HAS3 Synonymous SNV L530L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 2.475 178004 chr5 102364665 102364665 C T rs777006635 PAM Nonsynonymous SNV R854W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 178005 chr16 69402305 69402305 C T rs33916934 TERF2 Synonymous SNV V307V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.11 178006 chr16 48595615 48595615 A G N4BP1 Synonymous SNV A313A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 178007 chr16 4933600 4933600 C T rs903803987 PPL Nonsynonymous SNV V1686M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 178008 chr15 89382088 89382088 G A ACAN Nonsynonymous SNV A89T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 178009 chr16 70693970 70693970 C T rs79922158 IL34 Synonymous SNV P202P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.78 178010 chr16 71317533 71317533 T C rs76351450 CMTR2 Nonsynonymous SNV N764S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.002 178011 chr16 71703252 71703252 A G rs11075896 PHLPP2 Synonymous SNV P518P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.704 178012 chr16 71790032 71790032 T C rs34113755 AP1G1 Synonymous SNV V373V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.399 178013 chr16 71884021 71884021 A G rs6499544 ATXN1L Synonymous SNV P126P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.033 178014 chr16 71956511 71956511 - ATGCCC rs546271976 IST1 P91_S92insMP 0 0 0.003 0 0 0 0 1 0 0 0 0 178015 chr5 115298683 115298683 G A rs749181366 LVRN Synonymous SNV G123G 0.003 0 0 3 3 0 0.008 0 0 0 0 0 7.848 178016 chr16 720683 720683 C T rs58138191 RHOT2 Synonymous SNV P165P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.18 178017 chr16 721186 721186 G A rs73487484 RHOT2 Synonymous SNV A233A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.91 178018 chr16 14738330 14738330 A C BFAR Nonsynonymous SNV N43H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 178019 chr16 72141362 72141362 G A rs28557204 DHX38 Synonymous SNV Q908Q 0 0 0.007 0 0 0 0 2 0 0 0 0 8.965 178020 chr16 722997 722997 G A rs61745203 RHOT2 Nonsynonymous SNV A482T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.876 178021 chr16 72831026 72831026 T G rs61737017 ZFHX3 Nonsynonymous SNV Q938P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.4 178022 chr3 120417330 120417330 A G rs61758778 RABL3 Synonymous SNV H158H 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 7.236 178023 chr4 39233783 39233783 G T WDR19 Nonsynonymous SNV G555V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 178024 chr5 123977065 123977065 C T rs745671387 ZNF608 Nonsynonymous SNV E1444K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 178025 chr16 75269255 75269255 G A rs61738400 BCAR1 Synonymous SNV A304A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.58 178026 chr16 75269582 75269582 G A rs61729594 BCAR1 Synonymous SNV V195V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.696 178027 chr16 75513607 75513607 G A rs61740904 CHST6 Synonymous SNV R40R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.011 178028 chr16 75728261 75728261 G T rs7198138 DUXB Nonsynonymous SNV H115N 0 0 0.058 0 0 0 0 17 0 0 0 0 1.159 178029 chr16 76902855 76902855 A G rs28547494 MIR4719 0 0 0.003 0 0 0 0 1 0 0 0 0 7.995 178030 chr16 7726823 7726823 C A rs146803665 RBFOX1 Synonymous SNV A347A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 178031 chr3 122418915 122418915 C T PARP14 Nonsynonymous SNV T505I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 178032 chr16 78148993 78148993 C G rs34944716 WWOX Synonymous SNV L4L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.73 178033 chr16 78466469 78466469 T C rs74030232 WWOX Synonymous SNV A179A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.517 178034 chr16 78466534 78466534 G A rs73572838 WWOX Nonsynonymous SNV R201H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.46 178035 chr16 80646592 80646592 G A rs896624 CDYL2 Synonymous SNV Y383Y 0 0 0.007 0 0 0 0 2 0 0 1 0 1.878 178036 chr16 81181120 81181120 C G rs76056952 PKD1L2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 178037 chr3 123021905 123021905 G A rs143322376 ADCY5 Synonymous SNV P557P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.04 178038 chr11 6341546 6341566 GCCAGGCCTCCCTGCCTTCGA - rs769874656 CAVIN3 R48_A54del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 178039 chr4 47647111 47647111 G A rs150591451 CORIN Synonymous SNV D544D 0.002 0 0.014 0 2 0 0 4 0 0 0 0 10.07 178040 chr16 81248650 81248650 C T rs34719852 PKD1L2 Nonsynonymous SNV G205R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 178041 chr16 81248699 81248699 A G rs35732082 PKD1L2 Synonymous SNV N188N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.018 178042 chr16 81248758 81248758 C T rs36099350 PKD1L2 Nonsynonymous SNV V169M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.16 178043 chr16 81248778 81248778 C G rs35970134 PKD1L2 Nonsynonymous SNV C162S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.9 178044 chr16 81248797 81248797 C T rs35528333 PKD1L2 Nonsynonymous SNV V156I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.007 178045 chr16 81249892 81249892 T C rs73593138 PKD1L2 Nonsynonymous SNV T141A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.001 178046 chr16 81253772 81253772 G A rs61997176 PKD1L2 Synonymous SNV D68D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.534 178047 chr13 27256913 27256913 C G rs201909672 WASF3 Nonsynonymous SNV P382A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.676 178048 chr5 136476339 136476339 G A rs78484193 SPOCK1 Nonsynonymous SNV P93S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.1 178049 chr16 81301590 81301590 C A rs138840753 BCO1 Nonsynonymous SNV P233T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 178050 chr8 25343335 25343335 A G rs751215220 CDCA2 Nonsynonymous SNV I461V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 178051 chr16 816973 816973 A G rs35317722 MSLN Nonsynonymous SNV N496D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.033 178052 chr16 81960783 81960783 G A rs115583707 PLCG2 Synonymous SNV Q838Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.97 178053 chr16 81969847 81969847 C T rs1143690 PLCG2 Synonymous SNV V972V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.41 178054 chr16 67688344 67688344 C A rs201240421 CARMIL2 Synonymous SNV R1111R 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 20.8 178055 chr13 31231872 31231872 T C rs148995493 USPL1 Nonsynonymous SNV I224T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 178056 chr16 84050218 84050218 G A rs13334006 SLC38A8 Synonymous SNV T356T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.589 178057 chr16 84056442 84056442 G C rs11861325 SLC38A8 Nonsynonymous SNV S248C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.83 178058 chr16 84228218 84228218 C T rs139313669 LOC654780 0 0 0.003 0 0 0 0 1 0 0 0 0 8.487 178059 chr16 84228718 84228718 C T rs146515699 ADAD2 Synonymous SNV S217S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 178060 chr16 842288 842288 C T rs13330108 CHTF18 Synonymous SNV L423L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 178061 chr16 842508 842508 G T rs34595992 CHTF18 Nonsynonymous SNV A466S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.45 178062 chr11 130341111 130341111 C T rs751495984 ADAMTS15 Synonymous SNV D637D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 178063 chr11 64940322 64940322 C T rs763000971 SPDYC Synonymous SNV H228H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.721 178064 chr16 69726569 69726569 G A rs763536891 NFAT5 Synonymous SNV S722S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.654 178065 chr16 846798 846798 C T rs742317 CHTF18 Synonymous SNV R846R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 178066 chr16 84691256 84691256 C T rs12102528 KLHL36 Synonymous SNV P281P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 178067 chr11 65385456 65385456 C T rs77565229 PCNX3 Nonsynonymous SNV S208F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 24.6 178068 chr16 84914186 84914186 C G rs35711987 CRISPLD2 Nonsynonymous SNV A434G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.6 178069 chr16 85702029 85702029 A C rs114892539 GSE1 Nonsynonymous SNV E1034D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 178070 chr16 85832791 85832791 C T rs2233451 EMC8 Synonymous SNV P37P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 178071 chr16 27788273 27788273 G C KIAA0556 Nonsynonymous SNV D1492H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 178072 chr16 87637894 87637911 CTGCTGCTGCTGCTGCTG - JPH3 A152_A157del 0 0 0.003 0 0 0 0 1 0 0 0 0 178073 chr16 87743072 87743072 C T rs61735154 KLHDC4 Nonsynonymous SNV E359K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.3 178074 chr16 87872355 87872355 G A rs1060251 SLC7A5 Synonymous SNV F336F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.68 178075 chr16 87874736 87874736 G C rs1060250 SLC7A5 Nonsynonymous SNV N230K 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 7.151 178076 chr16 8839916 8839916 G A rs2228081 ABAT Synonymous SNV G43G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.03 178077 chr16 88494830 88494830 G A rs139066376 ZNF469 Nonsynonymous SNV V318M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.801 178078 chr16 88495462 88495462 G A rs143852982 ZNF469 Synonymous SNV P528P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.863 178079 chr16 88497350 88497350 C T rs184894059 ZNF469 Nonsynonymous SNV P1158S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 178080 chr16 88498076 88498076 C A rs145158875 ZNF469 Nonsynonymous SNV P1400T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.649 178081 chr16 88500137 88500137 G A rs144986357 ZNF469 Nonsynonymous SNV A2087T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.121 178082 chr16 88500678 88500678 G A rs181887079 ZNF469 Nonsynonymous SNV R2267Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.019 178083 chr16 88502572 88502572 C T rs114884145 ZNF469 Synonymous SNV G2898G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.14 178084 chr16 74957867 74957867 T C rs146638068 WDR59 Nonsynonymous SNV N229S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.576 178085 chr16 88503039 88503039 A C rs139565761 ZNF469 Nonsynonymous SNV E3054A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.2 178086 chr16 88504350 88504350 C G rs183437633 ZNF469 Nonsynonymous SNV P3491R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.18 178087 chr16 88504477 88504477 C T rs78022634 ZNF469 Synonymous SNV P3533P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.14 178088 chr16 1552106 1552106 G T rs778812141 TELO2 Nonsynonymous SNV A511S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.97 178089 chr16 88505284 88505284 C A rs141042464 ZNF469 Nonsynonymous SNV H3802Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.006 178090 chr16 88535400 88535400 G C rs80296158 MIR5189 0 0 0.003 0 0 0 0 1 0 0 0 0 4.885 178091 chr3 136664970 136664970 G C rs72978714 NCK1 Nonsynonymous SNV G194R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.11 178092 chr16 88744932 88744932 C T rs146585543 SNAI3 Nonsynonymous SNV R268Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.36 178093 chr16 88780603 88780603 C G rs73262673 CTU2 Synonymous SNV T268T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 178094 chr16 781697 781697 C G rs143441379 CIAO3 Nonsynonymous SNV S301T 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 6.665 178095 chr11 66616571 66616571 G A rs776196411 PC Synonymous SNV I1112I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Likely benign 10.66 178096 chr3 137881084 137881084 C G rs36061810 DBR1 Nonsynonymous SNV E428Q 0.006 0.003 0 4 7 1 0.01 0 0 0 0 0 24.9 178097 chr5 141694430 141694430 C T rs568363732 SPRY4 Nonsynonymous SNV D82N 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 178098 chr16 81076066 81076066 G A rs143295373 ATMIN Nonsynonymous SNV E59K 0 0.008 0 1 0 3 0.003 0 0 0 0 0 32 178099 chr16 88799695 88799695 G A rs140224299 PIEZO1 Synonymous SNV N885N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.839 178100 chr16 88800122 88800122 C G rs9928479 PIEZO1 Synonymous SNV R787R 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 12.49 178101 chr16 88871222 88871222 C T rs3218725 CDT1 Nonsynonymous SNV A135V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.2 178102 chr4 83857215 83857215 C T rs112871612 LIN54 Synonymous SNV E499E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.49 178103 chr4 83860866 83860866 T C rs142253468 LIN54 Synonymous SNV P333P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.662 178104 chr16 88874566 88874566 G A rs139633564 CDT1 Synonymous SNV P507P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 5.861 178105 chr16 88909159 88909159 G T rs11862754 GALNS Nonsynonymous SNV L67M 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign 0.283 178106 chr16 81891928 81891928 C G rs61755444 PLCG2 Nonsynonymous SNV A133G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 178107 chr16 89235045 89235045 C A rs74033412 LINC02138 0 0 0.007 0 0 0 0 2 0 0 0 0 3.663 178108 chr16 89259898 89259898 C T rs78261372 CDH15 Nonsynonymous SNV L626F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.961 178109 chr3 148802649 148802649 A G rs768888358 HLTF Synonymous SNV T16T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.165 178110 chr13 79176630 79176630 C A rs752859017 POU4F1 Synonymous SNV A60A 0.003 0 0 0 4 0 0 0 0 0 0 0 19.2 178111 chr11 6913562 6913562 G A rs763280689 OR2D2 Nonsynonymous SNV T57I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 178112 chr16 89390981 89390981 T C rs75355001 LOC100287036 Synonymous SNV S122S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.176 178113 chr16 89645321 89645321 C T rs78176582 CPNE7 Synonymous SNV G138G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.086 178114 chr3 150128257 150128257 C T TSC22D2 Nonsynonymous SNV P374S 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 178115 chr3 151046596 151046596 T C P2RY13 Nonsynonymous SNV K83R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 178116 chr13 99449376 99449376 T C DOCK9 Nonsynonymous SNV H2019R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.14 178117 chr3 151056050 151056050 T G P2RY12 Nonsynonymous SNV Q195P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 178118 chr16 90095654 90095654 G T rs74424322 GAS8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 178119 chr16 90099313 90099313 T A rs116113385 GAS8 Nonsynonymous SNV V76E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.1 178120 chr16 90106884 90106884 T G rs61734729 GAS8 Synonymous SNV P204P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.3 178121 chr16 90109969 90109969 C T rs116336371 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.34 178122 chr16 929630 929630 G T rs61745065 LMF1 Nonsynonymous SNV F170L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 178123 chr16 396382 396382 G A rs200741961 AXIN1 Nonsynonymous SNV S215L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.94 178124 chr17 10353790 10353790 T C rs7214349 MYH4 Synonymous SNV T1387T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.491 178125 chr17 10404493 10404493 C T rs143132059 MYH1 Synonymous SNV E1224E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 178126 chr17 10417429 10417429 G A rs113019239 MYH1 Synonymous SNV G182G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.5 178127 chr17 10427955 10427955 C T rs143022667 MYH2 Nonsynonymous SNV R1668Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 23.1 178128 chr17 10427969 10427969 C T rs61736461 MYH2 Synonymous SNV L1663L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 4.523 178129 chr16 85682174 85682174 C T rs35869664 GSE1 Synonymous SNV S8S 0 0.005 0 0 0 2 0 0 0 0 0 0 17.9 178130 chr8 107751722 107751722 G A OXR1 Nonsynonymous SNV A35T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.2 178131 chr17 10443324 10443324 C G rs116419997 MYH2 Synonymous SNV T356T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.03 178132 chr17 10534960 10534960 C A rs34393601 MYH3 Nonsynonymous SNV A1752S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 178133 chr16 27751620 27751620 G T rs530005023 KIAA0556 Nonsynonymous SNV D668Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 178134 chr17 11540079 11540079 C T rs8065057 DNAH9 Synonymous SNV H588H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.64 178135 chr17 11584124 11584124 A G rs9916482 DNAH9 Nonsynonymous SNV T1221A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 2.12 178136 chr17 11622702 11622702 C T rs61739497 DNAH9 Synonymous SNV P1868P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.53 178137 chr4 104012388 104012388 C T rs151335490 BDH2 Synonymous SNV S101S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 178138 chr17 11648261 11648261 A G rs9892290 DNAH9 Nonsynonymous SNV M2087V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.318 178139 chr17 11778343 11778343 C T rs61743933 DNAH9 Synonymous SNV N3440N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.47 178140 chr17 11795158 11795158 G A rs16945431 DNAH9 Nonsynonymous SNV R38Q 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 27.7 178141 chr11 31824297 31824297 T C PAX6 Synonymous SNV L33L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.776 178142 chr3 169500431 169500431 G A MYNN Nonsynonymous SNV G467S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 178143 chr17 12859289 12859289 A G rs16946898 ARHGAP44 Synonymous SNV Q214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.055 178144 chr17 12897127 12897127 G A rs7217826 ELAC2 Synonymous SNV S670S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.735 178145 chr8 119123030 119123030 G T rs760899584 EXT1 Synonymous SNV R86R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.588 178146 chr16 49315164 49315164 G A rs150356343 CBLN1 Synonymous SNV N71N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.23 178147 chr17 13977679 13977679 C T rs16948978 COX10 Nonsynonymous SNV T28I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.295 178148 chr17 13980164 13980164 A G rs16948986 COX10 Nonsynonymous SNV Y97C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.154 178149 chr17 14063251 14063251 C T rs114521946 COX10 Nonsynonymous SNV R228C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 35 178150 chr8 120758984 120758984 A C rs777642723 TAF2 Nonsynonymous SNV N1023K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.011 178151 chr17 15406241 15406241 A C rs73289533 TVP23C Nonsynonymous SNV S256R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.25 178152 chr17 15406486 15406486 C T rs59631163 TVP23C Nonsynonymous SNV A175T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 178153 chr4 111543554 111543554 G A rs61756183 PITX2 Synonymous SNV A21A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 18.36 178154 chr17 15907568 15907568 G A rs58517927 TTC19 Synonymous SNV A84A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 13.51 178155 chr17 16342687 16342687 T A rs35752829 SNHG29 0 0 0.01 0 0 0 0 3 0 0 0 0 9.961 178156 chr17 16347205 16347205 C T rs61743045 LRRC75A Nonsynonymous SNV G206S 0 0 0.01 0 0 0 0 3 0 0 0 0 12.97 178157 chr17 1636833 1636833 G A rs139795210 WDR81 Nonsynonymous SNV R298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 178158 chr11 35454324 35454324 G A rs139109171 PAMR1 Synonymous SNV L470L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 178159 chr11 36516596 36516596 A G rs146832696 TRAF6 Nonsynonymous SNV I203T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.32 178160 chr16 56519633 56519633 C T rs532361142 BBS2 Nonsynonymous SNV R643H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 178161 chr17 17716853 17716853 G A rs56155608 MIR6777 0 0 0.003 0 0 0 0 1 0 0 0 0 1.377 178162 chr17 18023905 18023905 G A rs114552047 MYO15A Synonymous SNV A597A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.64 178163 chr17 18024904 18024904 C T rs185688918 MYO15A Synonymous SNV D930D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.67 178164 chr17 18025137 18025137 C G rs143316414 MYO15A Nonsynonymous SNV T1008S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 178165 chr11 43425562 43425562 A C rs146594248 TTC17 Synonymous SNV S449S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.859 178166 chr8 133090092 133090092 C A rs192941170 HHLA1 Nonsynonymous SNV R351L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.436 178167 chr16 57284386 57284386 G C ARL2BP Synonymous SNV L119L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.719 178168 chr4 123665070 123665070 C T rs752202089 BBS12 Stop gain R675X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 46 178169 chr16 3819294 3819294 C T rs61753380 CREBBP Nonsynonymous SNV A943T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 18.06 178170 chr11 83544737 83544737 C A DLG2 Nonsynonymous SNV G340C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 178171 chr17 19449780 19449780 C T rs34012597 SLC47A1 Synonymous SNV F90F 0 0 0.014 1 0 0 0.003 4 0 0 0 0 Benign 10.92 178172 chr17 1985220 1985220 C T rs58801957 SMG6 Nonsynonymous SNV E100K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 178173 chr17 20108062 20108062 A G rs142426609 SPECC1 Nonsynonymous SNV K153E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 178174 chr16 602161 602161 C T CAPN15 Nonsynonymous SNV T819M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 178175 chr3 187088958 187088958 C T rs114477090 RTP4 Nonsynonymous SNV H180Y 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.001 178176 chr14 20926730 20926730 C G rs202232774 PIP4P1 Nonsynonymous SNV Q281H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.25 178177 chr17 21207829 21207829 C T rs143575057 MAP2K3 Synonymous SNV A191A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.88 178178 chr3 193032867 193032867 C T rs754866642 ATP13A5 Synonymous SNV E684E 0.003 0 0 0 3 0 0 0 0 0 0 0 12.96 178179 chr16 53913778 53913778 A G rs781481485 FTO Nonsynonymous SNV Y307C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 178180 chr4 152024130 152024130 T C rs144126210 RPS3A Synonymous SNV S154S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.33 178181 chr14 21991847 21991847 C - SALL2 G670Vfs*106 0.002 0 0 0 2 0 0 0 0 0 0 0 178182 chr16 55562355 55562355 T C rs200782744 LPCAT2 Synonymous SNV V126V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.134 178183 chr6 1611720 1611720 C T rs556342882 FOXC1 Nonsynonymous SNV P347L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 178184 chr16 55690811 55690811 G A rs1805064 SLC6A2 Nonsynonymous SNV V69I 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 26.3 178185 chr4 155176811 155176811 G A rs755916372 DCHS2 Synonymous SNV T2267T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 178186 chr11 93844905 93844905 C T rs201535372 HEPHL1 Nonsynonymous SNV P1109S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.96 178187 chr17 2275544 2275544 C T rs16952117 SGSM2 Synonymous SNV Y501Y 0 0 0.007 0 0 0 0 2 0 0 0 0 13.51 178188 chr17 2278872 2278872 C T rs61739394 SGSM2 Synonymous SNV P684P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.449 178189 chr11 94861636 94861636 A G rs184192678 ENDOD1 Synonymous SNV T132T 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 0.74 178190 chr17 26518107 26518107 C A rs35104651 NLK Synonymous SNV R433R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 178191 chr17 26685983 26685983 T C rs35276012 TMEM199 Nonsynonymous SNV Y86H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.63 178192 chr17 26687835 26687835 C G rs36106147 TMEM199 Nonsynonymous SNV L166V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.1 178193 chr17 26695916 26695916 C T rs2227723 VTN Nonsynonymous SNV R268Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 178194 chr17 26901194 26901194 C T rs2228419 ALDOC Synonymous SNV K230K 0 0 0.01 0 0 0 0 3 0 0 1 0 10.96 178195 chr17 27067912 27067912 C T rs8073738 NEK8 Synonymous SNV A547A 0 0 0.01 0 0 0 0 3 0 0 1 0 Conflicting interpretations of pathogenicity 17.38 178196 chr17 27291046 27291046 C T rs61737977 SEZ6 Nonsynonymous SNV A392T 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 11.7 178197 chr6 7590636 7590636 A T rs199829988 SNRNP48 Nonsynonymous SNV E49V 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 16.96 178198 chr17 1703597 1703597 C T rs535301214 SMYD4 Nonsynonymous SNV R364H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 178199 chr17 28296168 28296168 C A rs143150190 EFCAB5 Nonsynonymous SNV P128T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 178200 chr17 28296169 28296169 C A rs147481983 EFCAB5 Nonsynonymous SNV P128H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 178201 chr17 29220581 29220581 G A rs58888931 ATAD5 Synonymous SNV L1570L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.372 178202 chr17 29302575 29302575 A C rs58401536 DPRXP4 0 0 0.007 0 0 0 0 2 0 0 0 0 1.003 178203 chr17 29314972 29314972 C G rs60501934 RNF135 Nonsynonymous SNV S176C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.558 178204 chr17 29652884 29652884 T C rs10512435 NF1 Synonymous SNV L1607L 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign/Likely benign 0.07 178205 chr17 29902337 29902337 A G rs73991220 MIR4725 0 0 0.007 0 0 0 0 2 0 0 0 0 1.208 178206 chr17 2996199 2996199 A T rs9916628 OR1D2 Nonsynonymous SNV F31Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 24.8 178207 chr17 3030501 3030501 C T rs79847161 OR1G1 Synonymous SNV L115L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.42 178208 chr17 30322658 30322658 T C rs55832508 SUZ12 Synonymous SNV Y534Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.762 178209 chr4 1373975 1373975 C T rs767180330 UVSSA Nonsynonymous SNV P570L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.597 178210 chr17 19583328 19583328 G T rs142971549 SLC47A2 Nonsynonymous SNV Q473K 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.013 178211 chr16 67911147 67911147 G A rs925063774 EDC4 Nonsynonymous SNV R160Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 178212 chr17 33289069 33289071 GAG - rs758000040 ZNF830 E170del 0 0 0.003 0 0 0 0 1 0 0 0 0 178213 chr17 33339149 33339149 G A rs114994485 RFFL Synonymous SNV G310G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.037 178214 chr4 1803409 1803409 C T rs141575580 FGFR3 Synonymous SNV Y226Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.32 178215 chr12 108910756 108910756 C T rs76973043 FICD Nonsynonymous SNV L3F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.074 178216 chr17 33457309 33457309 C G rs144023197 FNDC8 Synonymous SNV T277T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 178217 chr12 108917330 108917330 G A rs34709181 SART3 Synonymous SNV N932N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 11 178218 chr17 33460431 33460431 C T rs2306512 NLE1 Nonsynonymous SNV S142N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 178219 chr17 33460516 33460516 A G rs2306513 NLE1 Nonsynonymous SNV Y114H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.1 178220 chr12 108930319 108930319 C G rs138907360 SART3 Nonsynonymous SNV V473L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 178221 chr17 33469052 33469052 G A rs34714758 NLE1 Synonymous SNV P36P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 16.23 178222 chr11 4870021 4870021 A G rs749323041 OR51S1 Nonsynonymous SNV Y140H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 178223 chr17 3352200 3352200 T C rs35562016 SPATA22 Synonymous SNV L148L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.598 178224 chr17 33738752 33738752 A G rs12946189 SLFN12 Nonsynonymous SNV S448P 0.002 0 0.014 0 2 0 0 4 0 0 0 0 22.3 178225 chr8 145660565 145660565 G A rs149407728 TONSL-AS1 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.203 178226 chr17 33876011 33876011 A G rs376832252 SLFN14 Synonymous SNV D662D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.579 178227 chr12 10962612 10962612 A G TAS2R9 Synonymous SNV I21I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.374 178228 chr17 34193767 34193767 T G rs116802831 HEATR9 Nonsynonymous SNV K33N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 178229 chr17 34236550 34236550 G A rs115893521 LRRC37A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.186 178230 chr17 3446840 3446840 C T rs8066242 TRPV3 Nonsynonymous SNV V132M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 178231 chr17 34870337 34870337 T G rs115762442 MYO19 Synonymous SNV R224R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.97 178232 chr17 34894082 34894082 G C rs79448900 PIGW Nonsynonymous SNV V378L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 13.93 178233 chr17 35295663 35295663 C A rs35618899 LHX1 Synonymous SNV R57R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.29 178234 chr17 35310195 35310195 T C rs112171972 AATF Nonsynonymous SNV I98T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.33 178235 chr17 3558379 3558379 C G CTNS Nonsynonymous SNV H105D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.442 178236 chr4 187205291 187205291 C T F11 Nonsynonymous SNV S394F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 178237 chr17 35872965 35872965 G A rs78357303 DUSP14 Synonymous SNV G197G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.704 178238 chr17 35879166 35879166 G A rs74423426 SYNRG Synonymous SNV N1139N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 178239 chr17 36482372 36482372 A C rs58740367 GPR179 Synonymous SNV T2360T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.001 178240 chr17 36623139 36623139 G A rs115941914 ARHGAP23 Synonymous SNV P405P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.573 178241 chr14 52899036 52899036 A C rs144886303 TXNDC16 Nonsynonymous SNV S817A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.01 178242 chr17 37341040 37341040 G A CACNB1 Synonymous SNV Y242Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.632 178243 chr17 37619038 37619038 G A rs35896550 CDK12 Synonymous SNV S238S 0 0 0.01 0 0 0 0 3 0 0 1 0 8.595 178244 chr17 37682200 37682200 A G rs61747430 CDK12 Nonsynonymous SNV I1131V 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 0.015 178245 chr17 37682292 37682292 G A rs12950784 CDK12 Synonymous SNV T1161T 0 0 0.01 0 0 0 0 3 0 0 1 0 12.5 178246 chr17 37898705 37898705 G A rs113336189 GRB7 Nonsynonymous SNV G51S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 178247 chr17 38100867 38100867 G C rs140521451 LRRC3C Nonsynonymous SNV M236I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 178248 chr17 38179062 38179062 C T rs12941675 MED24 Synonymous SNV T743T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.72 178249 chr9 8499651 8499651 G T PTPRD Nonsynonymous SNV A773E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 178250 chr4 8621089 8621089 C T rs34486568 CPZ Synonymous SNV P557P 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 13.04 178251 chr17 38978463 38978463 G A rs71371451 KRT10 Synonymous SNV G125G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 178252 chr17 39092741 39092741 C A rs139361222 KRT23 Nonsynonymous SNV G39W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 178253 chr5 5444437 5444437 A G ICE1 Nonsynonymous SNV Q141R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 178254 chr4 13545959 13545959 A G rs539850151 NKX3-2 Nonsynonymous SNV L27P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.98 178255 chr4 13616133 13616133 G A rs147318920 BOD1L1 Synonymous SNV V287V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.312 178256 chr17 39150122 39150122 G A rs9897208 KRTAP3-3 Synonymous SNV G76G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.529 178257 chr17 32683572 32683572 C T rs140451239 CCL13 Synonymous SNV C9C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.601 178258 chr17 39190994 39190994 - GCTGGCAGCAGCTGGTCTCACAGCAGCTTT rs769046874 KRTAP1-3 Q26_P27insQSCCETSCCQ 0 0 0.003 0 0 0 0 1 0 0 0 0 178259 chr17 39197185 39197185 G A rs113398525 KRTAP1-1 Synonymous SNV R155R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 178260 chr17 39197247 39197247 C T rs149686889 KRTAP1-1 Nonsynonymous SNV V135M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 178261 chr17 39280274 39280274 G T rs139615301 KRTAP4-12 Nonsynonymous SNV T34N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 178262 chr4 25334930 25334930 C A rs201877101 ZCCHC4 Nonsynonymous SNV T152N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.01 178263 chr4 27009618 27009618 A G STIM2 Nonsynonymous SNV Y388C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.932 178264 chr9 35101726 35101726 G A rs775594555 STOML2 Nonsynonymous SNV S96F 0 0 0 1 0 0 0.003 0 0 0 0 0 31 178265 chr17 39620376 39620376 C T rs144111267 KRT32 Nonsynonymous SNV R317H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 178266 chr9 35750885 35750888 GTCA - rs756761532 RGP1 V132Sfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 178267 chr16 89355062 89355062 G A rs556790586 ANKRD11 Synonymous SNV H206H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.28 178268 chr17 39643885 39643885 C T rs8073689 KRT36 Synonymous SNV Q268Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 178269 chr17 39644900 39644900 C T rs9675246 KRT36 Nonsynonymous SNV R179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 178270 chr17 39645740 39645740 T C rs8069943 KRT36 Nonsynonymous SNV Q126R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.736 178271 chr17 39645761 39645761 G A rs8082683 KRT36 Nonsynonymous SNV A119V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.5 178272 chr5 34950404 34950404 G A rs115834468 DNAJC21 Nonsynonymous SNV E439K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.36 178273 chr17 40266392 40266392 A G rs9303326 KAT2A Synonymous SNV L719L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.145 178274 chr17 40323972 40323972 C G rs9896136 KCNH4 Synonymous SNV R343R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.39 178275 chr17 40726208 40726208 A G rs9903184 PSMC3IP Synonymous SNV S19S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.728 178276 chr17 40825817 40825817 G T rs114759470 PLEKHH3 Synonymous SNV R112R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.749 178277 chr17 40832195 40832195 G C rs34866491 CCR10 Synonymous SNV P155P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.214 178278 chr17 40871149 40871149 A G rs73303771 EZH1 Synonymous SNV N253N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.869 178279 chr17 40932955 40932955 C A rs61754326 WNK4 Nonsynonymous SNV A80D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.9 178280 chr4 47570981 47570981 G A rs147568390 ATP10D Nonsynonymous SNV R994Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 178281 chr17 41031501 41031501 G A rs142513154 LINC00671 0 0 0.003 0 0 0 0 1 0 0 0 0 0.964 178282 chr5 37059056 37059056 G A rs749512949 NIPBL Nonsynonymous SNV D2492N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 178283 chr17 10404472 10404472 C T rs770569438 MYH1 Synonymous SNV E1231E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.835 178284 chr17 41152096 41152096 C T RPL27 Synonymous SNV N76N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 178285 chr12 132238926 132238926 G A rs145298891 SFSWAP Nonsynonymous SNV V446M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 178286 chr5 38962992 38962992 T C rs781203119 RICTOR Nonsynonymous SNV I518V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 178287 chr17 41246411 41246411 A C rs56128296 BRCA1 Nonsynonymous SNV I332M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.2 178288 chr17 41465979 41465979 C A rs34919770 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 5.867 178289 chr12 132633435 132633523 ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC NOC4L D299D 0.003 0.01 0 0 4 4 0 0 0 0 0 0 178290 chr17 42268007 42268007 A T rs58236343 TMUB2 Synonymous SNV S227S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 178291 chr17 42426587 42426587 C T rs63750723 GRN Nonsynonymous SNV R19W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.51 178292 chr11 562170 562170 C T RASSF7 Synonymous SNV T72T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.33 178293 chr4 70360969 70360969 T C UGT2B4 Nonsynonymous SNV Q204R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 178294 chr17 44117162 44117162 T C rs34101027 KANSL1 Synonymous SNV L703L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.002 178295 chr17 4446305 4446305 C T rs376994070 MYBBP1A Nonsynonymous SNV R932Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 178296 chr17 4447909 4447909 C T rs73335858 MYBBP1A Synonymous SNV K838K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 16.13 178297 chr17 4451316 4451316 G A rs73335867 MYBBP1A Synonymous SNV S587S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 14.14 178298 chr17 4520255 4520255 C T rs142031665 LINC01996 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 178299 chr17 45915985 45915985 G A rs142383711 SCRN2 Nonsynonymous SNV R284C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 178300 chr17 46257504 46257504 C T rs111771569 SKAP1 Synonymous SNV Q246Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.08 178301 chr17 4638530 4638530 G A rs61463072 CXCL16 Nonsynonymous SNV P211L 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 Benign 0.003 178302 chr17 46627945 46627945 A G rs2229303 HOXB3 Synonymous SNV S349S 0 0 0.007 0 0 0 0 2 0 0 0 0 2.684 178303 chr17 46679439 46679439 A C rs115157579 HOXB-AS3, HOXB-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 4.182 178304 chr17 46679486 46679486 C T rs76511259 HOXB-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 178305 chr17 46679582 46679582 G A rs79536354 HOXB-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 178306 chr17 46805626 46805626 G T rs33993186 HOXB13 Synonymous SNV P110P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.914 178307 chr17 4685913 4685913 G A rs35838872 TM4SF5 Nonsynonymous SNV G125D 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 0.001 178308 chr17 46862333 46862333 G T rs114353344 TTLL6 Synonymous SNV I357I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.885 178309 chr17 4688895 4688895 G A rs116521670 VMO1 Nonsynonymous SNV S124L 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 25.1 178310 chr17 47117343 47117343 C T rs74548664 IGF2BP1 Synonymous SNV N236N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.84 178311 chr17 4722825 4722825 G A rs11545163 PLD2 Nonsynonymous SNV A804T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 16.32 178312 chr17 47329641 47329641 C A rs146532935 FLJ40194 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 178313 chr17 47895271 47895271 T C rs17853073 KAT7 Synonymous SNV Y182Y 0 0 0.01 0 0 0 0 3 0 0 1 0 4.175 178314 chr17 4790953 4790953 A G rs7212236 MINK1 Synonymous SNV S366S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.359 178315 chr17 48186689 48186689 C T rs147969960 PDK2 Synonymous SNV Y272Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 178316 chr17 181638 181638 G A rs752497266 LOC100506388 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.694 178317 chr17 48433460 48433460 G A rs373704915 XYLT2 Synonymous SNV T440T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 178318 chr17 48434008 48434008 C T rs151294421 XYLT2 Nonsynonymous SNV T540I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.754 178319 chr17 48434517 48434517 G C rs60712738 XYLT2 Nonsynonymous SNV Q615H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.06 178320 chr17 48453219 48453219 G A rs114836030 EME1 Nonsynonymous SNV R217K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.374 178321 chr17 48458184 48458184 C T rs61023979 EME1 Nonsynonymous SNV R546C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 178322 chr17 48503723 48503723 C T rs75479707 ACSF2 Nonsynonymous SNV A34V 0 0 0.003 0 0 0 0 1 0 0 0 0 22 178323 chr17 48545499 48545499 G A rs35596951 CHAD Synonymous SNV L226L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.186 178324 chr17 48545687 48545687 C T rs376509429 CHAD Nonsynonymous SNV R163H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 178325 chr17 48545815 48545815 G T rs369262536 CHAD Nonsynonymous SNV D120E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.289 178326 chr17 48546102 48546102 G T rs35417848 CHAD Nonsynonymous SNV Q25K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.613 178327 chr4 82362055 82362055 T C rs146313100 RASGEF1B Nonsynonymous SNV Y304C 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 17.34 178328 chr12 2787050 2787050 C T rs375537358 CACNA1C-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 9.02 178329 chr17 48559496 48559496 G A rs34067532 RSAD1 Synonymous SNV S173S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 178330 chr17 48559544 48559544 C T rs373078035 RSAD1 Synonymous SNV P189P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 178331 chr17 48560058 48560058 G A rs143685560 RSAD1 Nonsynonymous SNV V299I 0 0 0.007 0 0 0 0 2 0 0 0 0 9.465 178332 chr17 48594775 48594775 C T rs114335869 MYCBPAP Nonsynonymous SNV A109V 0 0 0.01 0 0 0 0 3 0 0 1 0 22 178333 chr17 48594973 48594973 G A rs75706684 MYCBPAP Nonsynonymous SNV D143N 0 0 0.007 0 0 0 0 2 0 0 0 0 9.137 178334 chr17 48600338 48600338 C A rs61749932 MYCBPAP Synonymous SNV T447T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 178335 chr17 48602375 48602375 A G rs61754787 MYCBPAP Synonymous SNV R606R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.015 178336 chr17 48603427 48603427 A G MYCBPAP Synonymous SNV Q671Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 178337 chr15 100657173 100657173 A G rs148939974 ADAMTS17 Synonymous SNV H589H 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign/Likely benign 2.035 178338 chr17 48741390 48741390 G A rs142924921 ABCC3 Nonsynonymous SNV R419H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 178339 chr17 48744953 48744953 G C rs11568602 ABCC3 Synonymous SNV L490L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 10.67 178340 chr17 48753035 48753035 C T rs35999272 ABCC3 Nonsynonymous SNV P920S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 178341 chr17 48840919 48840919 C T rs894406921 ANKRD40CL 0 0 0.003 0 0 0 0 1 0 0 0 0 17.58 178342 chr12 32735236 32735236 C G rs904582 FGD4 Nonsynonymous SNV D52E 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 0.002 178343 chr17 49346248 49346248 G A rs149972807 UTP18 Nonsynonymous SNV R202Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 178344 chr17 4937350 4937350 C T rs374174324 SLC52A1 Nonsynonymous SNV R145Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 178345 chr17 49710946 49710946 G A rs34056432 CA10 Synonymous SNV N285N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.074 178346 chr17 51900493 51900493 G A rs114564922 KIF2B Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.153 178347 chr12 39751120 39751120 C A rs61740919 KIF21A Synonymous SNV T445T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 21.7 178348 chr17 51901246 51901246 C T rs9913268 KIF2B Synonymous SNV A284A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.36 178349 chr17 42426631 42426631 C T rs63750742 GRN Synonymous SNV D33D 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 Benign/Likely benign 14.43 178350 chr17 42437003 42437003 C T rs1036953683 FAM171A2 Nonsynonymous SNV R128Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 178351 chr15 22969353 22969353 C G rs201147075 CYFIP1 Nonsynonymous SNV S429C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 178352 chr17 51901729 51901729 C T rs115731857 KIF2B Synonymous SNV L445L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.366 178353 chr17 42982233 42982233 T C rs202112602 FAM187A Nonsynonymous SNV W346R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 178354 chr6 107009220 107009220 C A rs117237850 CRYBG1 Synonymous SNV R1587R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 178355 chr17 5331497 5331497 C G rs140020074 RPAIN Nonsynonymous SNV T199R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 178356 chr15 28228541 28228541 C T rs747214535 OCA2 Nonsynonymous SNV G461R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 35 178357 chr17 5462955 5462955 C T rs115872694 NLRP1 Nonsynonymous SNV G354D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.4 178358 chr17 54939991 54939991 A G DGKE Nonsynonymous SNV M515V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 178359 chr17 2203458 2203458 T C rs1049519785 SMG6 Nonsynonymous SNV R197G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.22 178360 chr17 54969229 54969229 C T rs61738274 TRIM25 Synonymous SNV T575T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.94 178361 chr12 4398138 4398138 G A rs139239250 CCND2 Synonymous SNV K234K 0.003 0.013 0 0 3 5 0 0 0 0 0 0 16.08 178362 chr17 54990797 54990797 T C rs61731983 TRIM25 Nonsynonymous SNV T185A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 178363 chr6 109524977 109524977 C T rs139193123 CCDC162P 0.006 0 0 0 7 0 0 0 0 0 0 0 4.747 178364 chr17 54991084 54991084 A C rs7212260 TRIM25 Nonsynonymous SNV V89G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 178365 chr17 55918299 55918299 G A rs34371951 MRPS23 Synonymous SNV G136G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 178366 chr17 56247885 56247885 G A rs73993621 OR4D2 Nonsynonymous SNV R290K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 178367 chr17 56344857 56344857 T C rs8178408 LPO Nonsynonymous SNV I531T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.669 178368 chr15 31319170 31319170 G A rs79581534 TRPM1 Synonymous SNV G1165G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.217 178369 chr6 110746271 110746271 C A SLC22A16 Nonsynonymous SNV M513I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 178370 chr15 31360115 31360115 C T rs781588390 TRPM1 Nonsynonymous SNV G171R 0.002 0 0 0 2 0 0 0 0 0 0 0 32 178371 chr17 45917010 45917010 C G rs747215268 SCRN2 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 178372 chr17 57288251 57288251 C T rs8068240 SMG8 Nonsynonymous SNV P280L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 178373 chr17 27445181 27445181 C T rs375280468 MYO18A Synonymous SNV Q640Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 178374 chr17 20135710 20135710 C T rs149091176 SPECC1 Synonymous SNV A700A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.3 178375 chr6 111696498 111696498 C T rs747438931 REV3L Synonymous SNV L1020L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.27 178376 chr11 60701187 60701187 C A rs758927732 TMEM132A Synonymous SNV R511R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 178377 chr17 59489787 59489787 G C rs58036240 C17orf82 0.003 0.003 0.01 2 3 1 0.005 3 0 0 1 0 16.34 178378 chr17 46688048 46688048 T C rs35657716 HOXB7 Nonsynonymous SNV Y78C 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 25.7 178379 chr17 59668275 59668275 T A rs61739271 NACA2 Synonymous SNV T89T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.92 178380 chr17 46688137 46688137 G C rs35272692 HOXB7 Synonymous SNV G48G 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 11.88 178381 chr17 29631619 29631619 C G rs775216222 EVI2B Nonsynonymous SNV D337H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 178382 chr17 61466797 61466797 C T rs1045592537 TANC2 Synonymous SNV F907F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 178383 chr17 61498345 61498345 G A rs201027730 TANC2 Nonsynonymous SNV V1668I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 178384 chr17 61607721 61607721 G A rs35399062 KCNH6 Nonsynonymous SNV G165R 0 0 0.007 0 0 0 0 2 0 0 0 0 6.059 178385 chr17 61622570 61622570 C T rs77366677 KCNH6 Nonsynonymous SNV S843L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 14.54 178386 chr11 61305654 61305654 T C rs767673233 SYT7 Synonymous SNV P342P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.45 178387 chr4 110909818 110909818 T C rs778040733 EGF Nonsynonymous SNV V854A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.6 178388 chr17 62018143 62018143 C T rs116469710 SCN4A Synonymous SNV E1833E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.86 178389 chr17 62018164 62018164 A C rs2227906 SCN4A Synonymous SNV T1826T 0.004 0.005 0.014 1 5 2 0.003 4 1 0 0 0 Benign 0.001 178390 chr17 62291105 62291105 G A rs28605685 TEX2 Nonsynonymous SNV T158I 0 0.005 0.01 0 0 2 0 3 0 0 1 0 12.88 178391 chr17 62754672 62754672 G A rs9907075 ARHGAP27P1-BPTFP1-KPNA2P3 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 178392 chr17 63049824 63049824 A C rs75732860 GNA13 Synonymous SNV A7A 0 0 0.007 0 0 0 0 2 0 0 0 0 5.121 178393 chr4 115792021 115792021 T C rs142825048 NDST4 Nonsynonymous SNV Q541R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.58 178394 chr17 6377804 6377804 C T rs7225547 PITPNM3 Synonymous SNV S366S 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 Benign 21.2 178395 chr12 52139705 52139705 A G rs756339734 SCN8A Nonsynonymous SNV I673V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.166 178396 chr5 95759019 95759019 A G rs145592525 PCSK1 Nonsynonymous SNV Y181H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 178397 chr17 6515450 6515450 G A rs79720908 KIAA0753 Nonsynonymous SNV T146M 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.006 178398 chr15 41279308 41279308 G A rs755791953 INO80 Synonymous SNV D1271D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.88 178399 chr17 6531500 6531500 C T rs115325772 KIAA0753 Nonsynonymous SNV V219I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 178400 chr17 6531679 6531679 T G rs78453634 KIAA0753 Nonsynonymous SNV H159P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 178401 chr17 6531819 6531819 T C rs770064770 KIAA0753 Synonymous SNV Q112Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.084 178402 chr17 65907663 65907663 C G rs9909489 BPTF Synonymous SNV A1221A 0.002 0 0.014 0 2 0 0 4 0 0 0 0 0.029 178403 chr17 65936580 65936580 A G rs73996923 BPTF Synonymous SNV Q2095Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.615 178404 chr17 66038247 66038247 C T rs144637470 KPNA2 Nonsynonymous SNV R117W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 178405 chr17 66303666 66303666 C T rs8074806 ARSG Nonsynonymous SNV A11V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.91 178406 chr17 66381248 66381248 G A rs77667421 ARSG Synonymous SNV R326R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 178407 chr17 66420592 66420592 A G rs77279010 MIR635 0 0 0.007 0 0 0 0 2 0 0 0 0 3.812 178408 chr17 66431810 66431810 G A rs114863072 WIPI1 Nonsynonymous SNV A109V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 178409 chr17 27893279 27893279 C A rs747097434 ABHD15 Stop gain E236X 0.002 0 0 0 2 0 0 0 0 0 0 0 40 178410 chr17 66928545 66928545 A G rs16973450 ABCA8 Synonymous SNV F227F 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.088 178411 chr4 128704816 128704816 A G rs973989175 HSPA4L Nonsynonymous SNV I4V 0.003 0 0 0 3 0 0 0 0 0 0 0 2.706 178412 chr6 132792608 132792608 T C rs1009195576 STX7 Synonymous SNV R127R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.796 178413 chr17 67125894 67125897 TAAA - rs537336238 ABCA6 0 0.003 0.003 0 0 1 0 1 0 0 0 0 178414 chr17 6716307 6716307 C T rs115985064 TEKT1 Nonsynonymous SNV R232Q 0.003 0.003 0.01 2 4 1 0.005 3 0 0 0 0 26.1 178415 chr17 36958421 36958421 T A CWC25 Nonsynonymous SNV E401V 0.002 0 0 0 2 0 0 0 0 0 0 0 33 178416 chr17 68128259 68128259 A G rs9302912 KCNJ16 Nonsynonymous SNV I46V 0.006 0 0.017 0 7 0 0 5 0 0 1 0 0.001 178417 chr17 68128900 68128900 A C rs9302913 KCNJ16 Synonymous SNV T259T 0.006 0 0.017 0 7 0 0 5 0 0 1 0 0.001 178418 chr6 135318791 135318791 T C rs148760445 HBS1L Synonymous SNV V139V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.058 178419 chr17 68171840 68171840 C T rs7221086 KCNJ2 Synonymous SNV S220S 0.004 0 0.01 0 5 0 0 3 0 0 1 0 Benign 8.393 178420 chr17 68172048 68172048 G A KCNJ2 Nonsynonymous SNV A290T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 178421 chr6 135515005 135515005 G A rs201620998 MYB Synonymous SNV A264A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.01 178422 chr17 56321355 56321355 C A rs570047955 LPO Nonsynonymous SNV A26E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.597 178423 chr17 7010403 7010403 G A rs61731747 ASGR2 Synonymous SNV H174H 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.218 178424 chr17 70119989 70119989 G A rs199887368 SOX9 Nonsynonymous SNV A331T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 178425 chr11 64597518 64597518 C T rs146058001 CDC42BPG Nonsynonymous SNV R1131Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 178426 chr17 71027797 71027797 C A rs34317750 SLC39A11 Synonymous SNV T68T 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 14.39 178427 chr5 112720792 112720792 G A rs144184307 MCC Synonymous SNV C96C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 10.2 178428 chr17 37922442 37922442 G C rs775549740 IKZF3 Synonymous SNV L130L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.46 178429 chr15 42978951 42978951 A G STARD9 Synonymous SNV L1725L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.856 178430 chr17 7126145 7126145 G A rs8064573 ACADVL Synonymous SNV A324A 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign/Likely benign 10.52 178431 chr17 7130842 7130842 C T rs149100313 DVL2 Nonsynonymous SNV R415Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 178432 chr17 71334757 71334757 G A rs144525453 SDK2 Nonsynonymous SNV A2163V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 178433 chr17 7162146 7162146 T C rs144985677 ELP5 Nonsynonymous SNV V246A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.57 178434 chr17 72301423 72301423 G A rs34392071 DNAI2 Synonymous SNV T351T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 12.89 178435 chr17 7231162 7231162 C T rs58277032 NEURL4 Synonymous SNV A108A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.79 178436 chr17 60042644 60042644 A C rs777805601 MED13 Nonsynonymous SNV S1523A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.924 178437 chr17 60106962 60106962 G C rs767313099 MED13 Nonsynonymous SNV A408G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 178438 chr17 72353663 72353663 C T rs199690597 BTBD17 Synonymous SNV Q190Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.498 178439 chr17 72366672 72366672 G A rs73997706 GPR142 Nonsynonymous SNV R36Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.01 178440 chr12 56365320 56365320 G A rs759820038 CDK2 Nonsynonymous SNV D210N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 178441 chr12 57556750 57556750 C T rs150463798 LRP1 Synonymous SNV D838D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.32 178442 chr17 73035107 73035107 A G rs6968 ATP5PD Synonymous SNV L112L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 8.265 178443 chr17 73235031 73235031 A G rs35669971 GGA3 Synonymous SNV P516P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.612 178444 chr17 73322041 73322041 G A rs2229610 GRB2 Synonymous SNV H79H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.82 178445 chr17 73487830 73487830 A G rs35709918 TMEM94 Nonsynonymous SNV N492S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 178446 chr17 73499794 73499794 G A rs9913424 CASKIN2 Synonymous SNV I460I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.89 178447 chr17 73500514 73500514 C T rs114741870 CASKIN2 Synonymous SNV P372P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.76 178448 chr6 155497995 155497995 C T rs137976809 TIAM2 Nonsynonymous SNV P803S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 178449 chr17 7365267 7365267 C T rs899934273 ZBTB4 Nonsynonymous SNV V1012M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 178450 chr17 7369185 7369185 C T rs147452733 ZBTB4 Synonymous SNV A312A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.117 178451 chr17 7369227 7369227 G A rs144550910 ZBTB4 Synonymous SNV H298H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.939 178452 chr17 73843040 73843040 G A rs35171947 WBP2 Synonymous SNV A182A 0 0 0.007 0 0 0 0 2 0 0 0 0 15.27 178453 chr17 73843629 73843629 C T rs35071314 WBP2 Synonymous SNV P153P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 19.3 178454 chr9 135203640 135203640 G C rs142020270 SETX Synonymous SNV A1115A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.57 178455 chr4 177113962 177113962 C T rs145400529 SPATA4 Synonymous SNV T168T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 16.59 178456 chr15 56387055 56387055 A G rs748004933 RFX7 Synonymous SNV T860T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 178457 chr9 135276858 135276858 C T rs754009556 TTF1 Nonsynonymous SNV V451M 0 0 0 1 0 0 0.003 0 0 0 0 0 3.479 178458 chr15 56387058 56387058 A T rs373912380 RFX7 Synonymous SNV P859P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 178459 chr17 74060168 74060168 T C rs58471646 SRP68 Synonymous SNV R112R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.413 178460 chr17 74076504 74076504 G A rs8066946 ZACN Synonymous SNV T181T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.6 178461 chr17 74077830 74077830 C A rs138188092 ZACN Nonsynonymous SNV L292M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 178462 chr5 140515038 140515038 A T rs149299239 PCDHB5 Nonsynonymous SNV T8S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 178463 chr6 160490922 160490922 C T rs749413548 IGF2R Synonymous SNV A1425A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 178464 chr5 140683087 140683087 C T SLC25A2 Nonsynonymous SNV A116T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 178465 chr17 74621459 74621459 G A rs145873819 ST6GALNAC1 Nonsynonymous SNV R586W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 178466 chr17 7470279 7470279 C T rs371091205 SENP3 Synonymous SNV L433L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.1 178467 chr6 161007619 161007619 G T rs147936725 LPA Nonsynonymous SNV R1331S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.582 178468 chr17 76219590 76219590 G A rs138842857 BIRC5 Nonsynonymous SNV R89Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 178469 chr17 76235317 76235317 A G rs201651781 TMEM235 Nonsynonymous SNV I135V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.154 178470 chr17 7644253 7644253 T C rs78694185 DNAH2 Synonymous SNV Y544Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 178471 chr17 76447617 76447617 A G rs34002770 DNAH17 Synonymous SNV D3556D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.755 178472 chr17 76449478 76449478 G A rs7210803 DNAH17 Synonymous SNV T3492T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.23 178473 chr17 76454682 76454682 G A rs35670567 DNAH17 Synonymous SNV A3314A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.54 178474 chr17 76462737 76462737 C T rs766958600 DNAH17 Synonymous SNV P2980P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.308 178475 chr9 139272511 139272511 C T rs748126485 SNAPC4 Synonymous SNV K1256K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.324 178476 chr12 72080550 72080550 A T rs34694164 TMEM19 Nonsynonymous SNV L30F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25 178477 chr6 167728686 167728686 G A rs572198078 UNC93A Nonsynonymous SNV V332I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.749 178478 chr17 72560403 72560403 C T rs918269362 CD300H, LOC100130520 Nonsynonymous SNV V25M 0 0.003 0 0 0 1 0 0 0 0 0 0 6.938 178479 chr5 162989 162989 G A PLEKHG4B Synonymous SNV G934G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.832 178480 chr15 68119964 68119964 A G rs981532120 SKOR1 Nonsynonymous SNV K600E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 178481 chr15 68346676 68346676 T C rs774680285 PIAS1 Synonymous SNV S4S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.2 178482 chr17 76887421 76887421 - C rs144289362 CEP295NL Frameshift insertion T389Dfs*56 0 0 0.007 0 0 0 0 2 0 0 1 0 178483 chr17 76887692 76887692 T C rs60709877 CEP295NL Synonymous SNV G298G 0 0 0.007 0 0 0 0 2 0 0 1 0 0.013 178484 chr17 76888211 76888211 G A rs59618901 CEP295NL Synonymous SNV H125H 0 0 0.007 0 0 0 0 2 0 0 1 0 0.051 178485 chr17 76888223 76888223 T C rs59034836 CEP295NL Synonymous SNV A121A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.012 178486 chr17 76888474 76888474 G A rs79218968 CEP295NL Nonsynonymous SNV L38F 0 0 0.007 0 0 0 0 2 0 0 1 0 6.479 178487 chr17 77082390 77082390 G A rs11871357 ENGASE Nonsynonymous SNV E731K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.36 178488 chr17 4462264 4462264 G A rs200487392 GGT6 Synonymous SNV G144G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.172 178489 chr17 7750908 7750908 C T rs58752590 KDM6B Synonymous SNV H434H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.991 178490 chr17 7754659 7754659 G C rs142815450 KDM6B Nonsynonymous SNV E1297D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 178491 chr17 7758449 7758449 G A rs116077752 TMEM88 Synonymous SNV R19R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.748 178492 chr7 2311565 2311565 G A rs201393411 SNX8 Nonsynonymous SNV R154C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 178493 chr17 77709019 77709019 C G rs80066859 ENPP7 Nonsynonymous SNV L193V 0 0 0.01 1 0 0 0.003 3 0 0 0 0 24.2 178494 chr12 80623066 80623066 G A rs181528168 OTOGL Synonymous SNV S164S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 13.41 178495 chr17 77758154 77758154 A C rs61745008 CBX2 Synonymous SNV P304P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.1 178496 chr17 77984168 77984168 G A rs35393459 TBC1D16 Synonymous SNV V190V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.964 178497 chr17 78039309 78039309 G T rs61739354 CCDC40 Nonsynonymous SNV S489I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.017 178498 chr15 73884317 73884317 T A NPTN Nonsynonymous SNV M85L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 178499 chr17 78064004 78064004 A G CCDC40 Nonsynonymous SNV T967A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.599 178500 chr5 148754049 148754049 C T rs41291955 IL17B Synonymous SNV P90P 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 Benign 13.39 178501 chr17 78091467 78091467 C T rs115705591 GAA Synonymous SNV S800S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 19.28 178502 chr17 78184644 78184644 C T rs58786455 SGSH Nonsynonymous SNV M372I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 32 178503 chr17 78247068 78247068 G A rs76374987 RNF213 Synonymous SNV A42A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.57 178504 chr9 140166995 140166995 C T NELFB Synonymous SNV L556L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.25 178505 chr17 78261961 78261961 G C rs74003706 RNF213 Nonsynonymous SNV E203D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.076 178506 chr11 7647098 7647098 C T rs147849861 PPFIBP2 Nonsynonymous SNV H125Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.9 178507 chr17 78311647 78311647 G A rs75651507 RNF213 Synonymous SNV T1561T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.61 178508 chr15 75941476 75941476 T C rs140797653 SNX33 Synonymous SNV F11F 0.003 0 0 0 4 0 0 0 0 0 0 0 0.413 178509 chr17 78367225 78367225 A C rs61429875 RNF213 Nonsynonymous SNV E5184A 0 0 0.007 0 0 0 0 2 0 0 0 0 21.4 178510 chr17 78921108 78921108 G A rs9912110 RPTOR Synonymous SNV E916E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.76 178511 chr17 78968480 78968480 G A rs61037507 CHMP6 Nonsynonymous SNV G55S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 33 178512 chr17 79172716 79172716 T G rs73356006 CEP131 Synonymous SNV S416S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.546 178513 chr15 79214543 79214543 A G CTSH Nonsynonymous SNV F313L 0.007 0 0 0 8 0 0 0 0 0 0 0 29.1 178514 chr17 74169868 74169868 G A RNF157 Nonsynonymous SNV P71S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 178515 chr17 79495866 79495866 G A rs34126129 FSCN2 Synonymous SNV R103R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.227 178516 chr17 79508395 79508395 C G rs116118204 FAAP100 Nonsynonymous SNV Q818H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 178517 chr17 79517393 79517393 G A rs61745641 FAAP100 Nonsynonymous SNV T376I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.256 178518 chr17 7951756 7951756 G A rs61730298 ALOX15B Nonsynonymous SNV R561Q 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 7.247 178519 chr7 12433330 12433330 G A rs73302462 VWDE Nonsynonymous SNV L45F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 19.45 178520 chr17 79526399 79526399 G A rs200065610 NPLOC4 Synonymous SNV A576A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 178521 chr11 799448 799448 G A rs779894998 PIDD1 Synonymous SNV D864D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.18 178522 chr17 79639617 79639619 GGA - rs34191669 CCDC137 E254del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 178523 chr15 84581873 84581873 G C rs755967435 ADAMTSL3 Nonsynonymous SNV S577T 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 23.6 178524 chr17 79682766 79682766 C T rs75872106 SLC25A10 Synonymous SNV N124N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 15.7 178525 chr5 153414341 153414341 G A rs751508911 FAM114A2 Nonsynonymous SNV S58F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 178526 chr17 79768954 79768954 C G rs5385 GCGR Nonsynonymous SNV P114A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.193 178527 chr17 79846210 79846210 G A rs201884239 ALYREF Synonymous SNV G229G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 178528 chr17 79846216 79846216 G A rs75583866 ALYREF Synonymous SNV R227R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.54 178529 chr17 49062347 49062347 C T SPAG9 Nonsynonymous SNV V852M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 178530 chr17 79852490 79852490 C T rs149073349 ANAPC11 Nonsynonymous SNV R27W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.461 178531 chr17 7606723 7606723 G A rs148329158 WRAP53 Synonymous SNV A522A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign/Likely benign 4.714 178532 chr17 79864754 79864754 G A rs2230472 PCYT2 Synonymous SNV P132P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.94 178533 chr17 79871981 79871981 A G rs74006135 SIRT7 Synonymous SNV L293L 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 0.346 178534 chr17 79892586 79892586 A G rs872029 PYCR1 Synonymous SNV G192G 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Benign 1.791 178535 chr17 79918680 79918680 G A rs147815679 NOTUM Nonsynonymous SNV P36S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.791 178536 chr17 79995535 79995535 G A rs61744795 DCXR Synonymous SNV R8R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.581 178537 chr17 80006958 80006958 T C rs74659471 RFNG Nonsynonymous SNV H288R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.014 178538 chr17 80017948 80017950 CTC - rs202150137 DUS1L E348del 0 0 0.003 0 0 0 0 1 0 0 0 0 178539 chr17 80042579 80042579 C T rs45483502 FASN Synonymous SNV E1526E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.524 178540 chr17 80046962 80046962 C T rs17848930 FASN Synonymous SNV T729T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.3 178541 chr17 80047258 80047258 G A rs45540245 FASN Synonymous SNV A656A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.939 178542 chr17 80129582 80129582 G A rs116714093 CCDC57 Nonsynonymous SNV T134M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 178543 chr17 80151988 80151988 C T rs35768211 CCDC57 Nonsynonymous SNV A216T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 178544 chr17 5364367 5364367 G C rs34666901 DHX33 Synonymous SNV P74P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 178545 chr17 80320070 80320070 C G rs138453353 TEX19 Nonsynonymous SNV S15C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 178546 chr17 80332561 80332561 G T rs41367349 UTS2R Nonsynonymous SNV V121L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.038 178547 chr17 80373431 80373431 C T rs34028107 OGFOD3 Synonymous SNV L49L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.334 178548 chr17 80399755 80399755 G A rs201779242 HEXD Nonsynonymous SNV A323T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.278 178549 chr17 76567743 76567743 G A rs750207618 DNAH17 Nonsynonymous SNV H221Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.01 178550 chr17 80684451 80684451 G A rs9902326 FN3KRP Synonymous SNV E188E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.92 178551 chr5 162890951 162890953 CAG - rs758820243 HMMR Q47del 0.001 0 0 0 1 0 0 0 0 0 0 0 178552 chr7 27170188 27170188 C A rs532084815 HOXA4 Synonymous SNV L55L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.83 178553 chr17 8172372 8172372 G C rs145594178 PFAS Nonsynonymous SNV Q1269H 0 0 0.007 0 0 0 0 2 0 0 0 0 13.88 178554 chr7 27224131 27224131 C T HOXA11 Synonymous SNV E211E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.402 178555 chr17 8396256 8396256 C T rs35712248 MYH10 Synonymous SNV A1401A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 178556 chr17 8792496 8792496 G A rs61759658 PIK3R5 Synonymous SNV V285V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 8.979 178557 chr17 8814797 8814797 G A rs143670387 PIK3R5 Synonymous SNV A5A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.99 178558 chr17 9532028 9532028 T C rs57960962 CFAP52 Synonymous SNV D287D 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 4.683 178559 chr17 9532118 9532118 C T rs145951373 CFAP52 Synonymous SNV D317D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 178560 chr17 9538793 9538793 G T rs73975761 CFAP52 Synonymous SNV V396V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.794 178561 chr17 9546344 9546344 A C rs36018005 CFAP52 Synonymous SNV G496G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.581 178562 chr17 9631542 9631542 C T rs61729504 USP43 Synonymous SNV N864N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 178563 chr17 9729445 9729445 A T rs8072568 GLP2R Nonsynonymous SNV H22L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 178564 chr18 10539774 10539774 C T rs2228300 NAPG Nonsynonymous SNV P92S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.37 178565 chr18 10696474 10696474 G A rs16975188 PIEZO2 Synonymous SNV S2184S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 9.717 178566 chr18 10699017 10699017 G A rs73945841 PIEZO2 Synonymous SNV F2087F 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 10.23 178567 chr10 23270355 23270355 G A rs200377329 ARMC3 Nonsynonymous SNV A72T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 178568 chr17 78346827 78346827 C T rs370841241 RNF213 Synonymous SNV I4268I 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 11.84 178569 chr18 12817160 12817160 C T rs77573141 PTPN2 Nonsynonymous SNV V205I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.63 178570 chr17 79077463 79077463 C T rs138233728 BAIAP2 Synonymous SNV S268S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 178571 chr18 13117630 13117630 A G CEP192 Nonsynonymous SNV K2488R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 178572 chr18 13884685 13884685 A C rs28926182 MC2R Nonsynonymous SNV F278C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24.1 178573 chr18 19079826 19079826 C G rs114233250 GREB1L Synonymous SNV A1176A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.252 178574 chr5 177570949 177570949 C A RMND5B Synonymous SNV A165A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 178575 chr18 21001400 21001400 G A rs76709352 TMEM241 Nonsynonymous SNV T43M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 31 178576 chr18 21134772 21134772 G A rs116046557 NPC1 Synonymous SNV D501D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.83 178577 chr18 21353677 21353677 C T rs8094166 LAMA3 Nonsynonymous SNV R467C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 3.96 178578 chr18 21427549 21427549 C T rs35035965 LAMA3 Synonymous SNV A1351A 0 0 0.01 1 0 0 0.003 3 0 0 0 0 16.28 178579 chr17 79862745 79862745 C G PCYT2 Synonymous SNV A324A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.715 178580 chr18 28576793 28576793 C T rs2228474 DSC3 Synonymous SNV S819S 0 0.003 0.007 0 0 1 0 2 0 0 1 0 18.22 178581 chr18 28681903 28681903 T C rs868333 DSC2 Nonsynonymous SNV N11S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 0.019 178582 chr18 28712639 28712639 T C rs16961338 DSC1 Synonymous SNV T710T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.959 178583 chr5 179743819 179743819 C T rs193143625 GFPT2 Nonsynonymous SNV R366Q 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 178584 chr18 28934621 28934621 T A rs16961692 DSG1 Nonsynonymous SNV L821Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 178585 chr18 28934715 28934715 C T rs16961693 DSG1 Synonymous SNV H852H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.778 178586 chr18 28934973 28934973 T C rs1042754 DSG1 Synonymous SNV S938S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 178587 chr18 28935123 28935123 C T rs16961694 DSG1 Synonymous SNV S988S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.925 178588 chr10 33515198 33515198 C T rs754511946 NRP1 Nonsynonymous SNV R334H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 178589 chr17 80575252 80575252 C T rs1020986482 WDR45B Synonymous SNV A242A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.99 178590 chr5 74880616 74880616 T C rs746549263 POLK Nonsynonymous SNV M298T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 178591 chr5 76028164 76028164 A G rs149168216 F2R Synonymous SNV L38L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 0.172 178592 chr6 2948553 2948553 G A rs3188238 SERPINB6 Synonymous SNV C384C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.95 178593 chr5 76707503 76707503 C T rs148282450 PDE8B Synonymous SNV D414D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.83 178594 chr18 32374083 32374083 C T rs147759402 DTNA Synonymous SNV N77N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.19 178595 chr5 76758933 76758933 T C rs144519784 WDR41 Nonsynonymous SNV D112G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 178596 chr18 32400811 32400811 C T rs114170541 DTNA Synonymous SNV S61S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.12 178597 chr18 32949439 32949439 - T rs200991704 ZNF396 Frameshift insertion Q250Tfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 178598 chr18 32949555 32949555 T A rs9963473 ZNF396 Nonsynonymous SNV H211L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.42 178599 chr6 5086232 5086232 C G rs766899846 PPP1R3G Synonymous SNV A171A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 178600 chr17 6942030 6942030 T C rs144261582 SLC16A13 Synonymous SNV A301A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 178601 chr18 34320630 34320630 G A rs9304162 FHOD3 Synonymous SNV T1004T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.43 178602 chr18 34340651 34340651 C T rs9946890 FHOD3 Synonymous SNV H1310H 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 16.48 178603 chr18 34647423 34647423 C T rs12326301 KIAA1328 Nonsynonymous SNV R275C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 32 178604 chr18 3603792 3603792 A G rs115403710 DLGAP1-AS2 0 0 0.007 0 0 0 0 2 0 0 0 0 15.12 178605 chr18 39647414 39647414 G A rs115685722 PIK3C3 Synonymous SNV L799L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.77 178606 chr18 43224101 43224101 G A rs35245152 SLC14A2 Nonsynonymous SNV G443S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 178607 chr18 43675064 43675064 C A rs79011243 ATP5F1A Nonsynonymous SNV A32S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.3 178608 chr18 44146287 44146287 G A rs34723936 LOXHD1 Synonymous SNV D790D 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 8.836 178609 chr18 45566725 45566725 C T rs116118566 ZBTB7C Nonsynonymous SNV A252T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 178610 chr18 46343676 46343676 G A rs757097359 CTIF Nonsynonymous SNV G486S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 178611 chr18 47088690 47088690 C A rs874565 LIPG Synonymous SNV S4S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.95 178612 chr18 47402162 47402162 C T rs61737443 MYO5B Synonymous SNV T1144T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.48 178613 chr18 50705370 50705370 A T rs116498325 DCC Nonsynonymous SNV Q486L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 27.3 178614 chr18 54547350 54547350 C T rs34519191 WDR7 Synonymous SNV F1127F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 178615 chr18 54547380 54547380 G A rs34829031 WDR7 Synonymous SNV S1137S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 178616 chr18 55103476 55103476 - CAC rs753219302 ONECUT2 H184_Q185insH 0.001 0 0.003 0 1 0 0 1 0 0 0 0 178617 chr13 48878154 48878154 G A rs745822791 RB1 Nonsynonymous SNV D36N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.57 178618 chr18 55342146 55342146 C T rs33963153 ATP8B1 Nonsynonymous SNV S580N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.29 178619 chr18 56204231 56204231 C A rs34347938 ALPK2 Nonsynonymous SNV G1063V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.3 178620 chr10 61834891 61834891 G A rs146335871 ANK3 Synonymous SNV T1916T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.71 178621 chr18 56204832 56204832 A G rs61738805 ALPK2 Nonsynonymous SNV F863L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.242 178622 chr17 73096632 73096632 G A rs769032724 SLC16A5 Nonsynonymous SNV G292R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 178623 chr18 56247551 56247551 T C rs78047545 ALPK2 Nonsynonymous SNV I153V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 178624 chr18 57364452 57364452 G T rs80008675 CCBE1 Nonsynonymous SNV D41E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.5 178625 chr18 60036498 60036498 C T rs34945627 TNFRSF11A Nonsynonymous SNV R436W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.9 178626 chr18 60223457 60223457 A G rs34596423 ZCCHC2 Synonymous SNV S445S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.055 178627 chr16 23569452 23569452 C T UBFD1 Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 178628 chr16 23702693 23702693 T C rs748730315 ERN2 Synonymous SNV A758A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.957 178629 chr18 61234091 61234091 C T rs35623491 SERPINB12 Synonymous SNV N375N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.988 178630 chr18 61234144 61234144 G A rs56812375 SERPINB12 Nonsynonymous SNV R393Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.69 178631 chr7 92085828 92085828 G A rs139637606 GATAD1 Synonymous SNV G254G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 10.59 178632 chr18 61621773 61621773 G A rs61738713 HMSD Synonymous SNV K68K 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.171 178633 chr18 645003 645003 A C rs371947454 CLUL1 Nonsynonymous SNV K435Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 178634 chr18 65180129 65180129 A C rs78977585 DSEL Nonsynonymous SNV L573V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 178635 chr18 6590614 6590614 A G rs183733411 LINC01387 0 0 0.003 0 0 0 0 1 0 0 0 0 5.41 178636 chr12 124247062 124247062 G T rs773700732 DNAH10 Nonsynonymous SNV R60L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.61 178637 chr16 30369681 30369681 G A rs780050189 TBC1D10B Nonsynonymous SNV R671W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 178638 chr18 7026031 7026031 C A rs28687669 LAMA1 Synonymous SNV G783G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 19.14 178639 chr16 30732644 30732644 C T rs143519723 SRCAP Nonsynonymous SNV P1130S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 19.79 178640 chr18 7040197 7040197 T C rs62619829 LAMA1 Nonsynonymous SNV T434A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.89 178641 chr18 70417378 70417378 G C rs17086286 NETO1 Nonsynonymous SNV A487G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 178642 chr18 71816106 71816106 G A rs35090113 TIMM21 Synonymous SNV K21K 0 0 0.007 0 0 0 0 2 0 0 0 0 7.848 178643 chr18 72114459 72114459 C G rs9958963 DIPK1C Synonymous SNV A86A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.69 178644 chr10 75408000 75408000 G A SYNPO2L Synonymous SNV P246P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.671 178645 chr6 35277566 35277566 C T rs141861681 DEF6 Synonymous SNV L72L 0.004 0 0 0 5 0 0 0 0 0 0 0 13.9 178646 chr18 72344210 72344210 C T rs114313623 ZNF407 Nonsynonymous SNV S412L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 10.86 178647 chr18 74153862 74153862 G A rs116725689 ZNF516 Synonymous SNV F383F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.07 178648 chr18 74154645 74154645 C A rs28670651 ZNF516 Synonymous SNV S122S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 178649 chr18 74640002 74640002 G A rs76679748 ZNF236 Nonsynonymous SNV A1512T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.602 178650 chr16 31230742 31230742 C A rs369542040 TRIM72 Synonymous SNV R207R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.88 178651 chr18 74701936 74701936 G A rs76912958 MBP Synonymous SNV P86P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 14.13 178652 chr18 77063702 77063702 G A rs36034863 ATP9B Nonsynonymous SNV D504N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.671 178653 chr18 77067171 77067171 C T rs34339254 ATP9B Synonymous SNV F570F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.92 178654 chr18 77402065 77402065 G A rs115576488 LOC284241 0 0 0.003 0 0 0 0 1 0 0 0 0 0.805 178655 chr18 77420738 77420738 T C rs73972708 LOC284241 0 0 0.003 0 0 0 0 1 0 0 0 0 0.88 178656 chr18 77623811 77623811 C T rs141805464 KCNG2 Synonymous SNV A48A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 178657 chr18 77623898 77623898 C T rs147089723 KCNG2 Synonymous SNV A77A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 178658 chr18 77797492 77797492 G A rs748338 RBFA Nonsynonymous SNV V122M 0.002 0 0.007 0 2 0 0 2 0 0 0 0 21.9 178659 chr18 77936017 77936017 G A rs76907644 PARD6G-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 2.496 178660 chr17 74570539 74570539 A T ST6GALNAC2 Nonsynonymous SNV V90E 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 178661 chr18 9886874 9886874 A T rs7244020 TXNDC2 Nonsynonymous SNV D133V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 17.26 178662 chr19 10091365 10091365 C T rs144444472 COL5A3 Nonsynonymous SNV D855N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.37 178663 chr10 89505621 89505621 G A rs764002655 PAPSS2 Nonsynonymous SNV R580Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.5 178664 chr19 10217338 10217338 C T rs11559189 PPAN, PPAN-P2RY11 Synonymous SNV S7S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.882 178665 chr19 10334532 10334532 G A rs116191851 S1PR2 Synonymous SNV N350N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.591 178666 chr10 90966828 90966828 G A rs45579235 CH25H Synonymous SNV H74H 0.003 0.008 0.003 6 3 3 0.015 1 0 0 0 0 10.14 178667 chr10 91497838 91497838 A T KIF20B Nonsynonymous SNV E1080D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.21 178668 chr19 1052086 1052086 G A rs61576791 ABCA7 Synonymous SNV T1036T 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 13.13 178669 chr19 1057960 1057960 G A rs141237099 ABCA7 Nonsynonymous SNV V1643M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 178670 chr18 67365815 67365815 G A rs75985402 DOK6 Synonymous SNV T195T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.517 178671 chr17 78336944 78336944 G A rs376767896 RNF213 Nonsynonymous SNV A3800T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.858 178672 chr19 10781760 10781760 G A rs1802642 ILF3 Synonymous SNV T38T 0 0.003 0.01 0 0 1 0 3 0 0 0 0 15.53 178673 chr19 10793333 10793333 G T rs34520379 ILF3 Nonsynonymous SNV A501S 0 0 0.01 0 0 0 0 3 0 0 0 0 0.035 178674 chr19 1084338 1084338 G T rs61741608 ARHGAP45 Synonymous SNV G654G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.244 178675 chr19 1085690 1085690 G A rs149960692 ARHGAP45 Synonymous SNV S667S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.96 178676 chr19 1122524 1122524 C T rs200550093 SBNO2 Synonymous SNV A259A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.7 178677 chr17 79171957 79171957 G T CEP131 Synonymous SNV R476R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.838 178678 chr14 21548930 21548930 G A rs61753298 ARHGEF40 Nonsynonymous SNV A115T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.278 178679 chr19 11485552 11485552 C T rs34156839 SWSAP1 Nonsynonymous SNV L66F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.75 178680 chr19 11489049 11489049 G C rs35423344 EPOR Nonsynonymous SNV P380A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 16.34 178681 chr19 11597866 11597866 C T rs141445219 ZNF653 Nonsynonymous SNV G427R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.218 178682 chr17 78186006 78186006 C T rs779676466 SGSH Synonymous SNV T271T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 18.14 178683 chr19 12223324 12223324 G T rs60823658 ZNF788P Nonsynonymous SNV S321I 0 0 0.007 0 0 0 0 2 0 0 0 0 16.41 178684 chr19 12267531 12267531 T C rs269824 ZNF625-ZNF20 0 0 0.01 0 0 0 0 3 0 0 1 0 3.34 178685 chr19 12461859 12461859 G C rs61737005 ZNF442 Synonymous SNV R111R 0 0 0.007 0 0 0 0 2 0 0 0 0 5.424 178686 chr19 12574960 12574960 T C rs371568898 ZNF709 Synonymous SNV Q592Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 178687 chr19 1268358 1268358 C A rs369586184 CIRBP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.746 178688 chr12 26784902 26784902 G A rs377598368 ITPR2 Nonsynonymous SNV P944L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.8 178689 chr17 79203050 79203050 G C rs202034749 TEPSIN Nonsynonymous SNV P419R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.935 178690 chr10 101122050 101122050 A G rs371216334 CNNM1 Nonsynonymous SNV N642S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 178691 chr19 12865590 12865590 G A rs34896167 BEST2 Nonsynonymous SNV V158M 0 0 0.003 0 0 0 0 1 0 0 0 0 26 178692 chr19 12880703 12880703 G T rs114441181 HOOK2 Synonymous SNV R366R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 178693 chr19 13255609 13255609 G A rs369337051 STX10 Nonsynonymous SNV R134C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 178694 chr19 13423525 13423525 C T rs16011 CACNA1A Synonymous SNV T543T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 17.53 178695 chr17 79771503 79771503 G C rs138492107 GCGR Nonsynonymous SNV D458H 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 Benign 17 178696 chr19 1371159 1371159 G A rs116347581 PWWP3A Nonsynonymous SNV G622S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.88 178697 chr17 79803766 79803766 T C rs142731141 P4HB Synonymous SNV K386K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 0.003 178698 chr19 13873698 13873698 G C rs35761244 CCDC130 Nonsynonymous SNV C191S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 178699 chr19 13882941 13882941 G C rs10402855 MRI1 Nonsynonymous SNV G319A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 178700 chr19 13885348 13885348 A C rs80019370 C19orf53 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.146 178701 chr10 102539293 102539293 C T rs373723559 PAX2 Nonsynonymous SNV T150M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 178702 chr19 13915630 13915630 G A rs73511513 ZSWIM4 Nonsynonymous SNV R127H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.731 178703 chr19 13988558 13988558 - GAG rs148122339 NANOS3 G171_A172insG 0 0 0.003 0 0 0 0 1 0 0 0 0 178704 chr19 14159806 14159806 C T rs76209808 IL27RA Synonymous SNV V385V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.45 178705 chr19 14184227 14184227 G C rs8104055 MISP3 Nonsynonymous SNV E36Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 178706 chr14 24737134 24737134 C T rs745370644 RABGGTA Nonsynonymous SNV R393Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 178707 chr6 51720770 51720770 C T rs143570672 PKHD1 Nonsynonymous SNV R2611H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 178708 chr19 1460835 1460835 C T rs34073024 APC2 Synonymous SNV S499S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 11.09 178709 chr6 52764737 52764737 C T rs773432450 GSTA3 Nonsynonymous SNV E87K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 178710 chr19 14740942 14740942 G A rs78700925 ADGRE3 Nonsynonymous SNV P448L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 178711 chr19 14769345 14769345 T G rs114104678 ADGRE3 Nonsynonymous SNV T73P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 178712 chr19 14910900 14910900 A T rs149561973 OR7C1 Nonsynonymous SNV F17I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 178713 chr19 14952189 14952189 G T rs114596415 OR7A10 Synonymous SNV P167P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.095 178714 chr10 112581648 112581648 G A rs565524160 RBM20 Nonsynonymous SNV E1091K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.9 178715 chr19 15297974 15297974 G A rs35793356 NOTCH3 Synonymous SNV G594G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.55 178716 chr19 1535232 1535232 A G rs78948127 PLK5 Nonsynonymous SNV M332V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.905 178717 chr7 129962408 129962408 C T rs143728099 CPA4 Synonymous SNV T353T 0.007 0 0 5 8 0 0.013 0 0 0 0 0 13.82 178718 chr12 44149019 44149019 C T rs148928799 PUS7L Synonymous SNV R10R 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 12.67 178719 chr19 15918177 15918177 G T rs62619246 OR10H1 Nonsynonymous SNV A224D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 21.9 178720 chr19 15918349 15918349 C T rs61745313 OR10H1 Nonsynonymous SNV A167T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.588 178721 chr19 15918647 15918647 G A rs4081570 OR10H1 Synonymous SNV S67S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.352 178722 chr10 115485285 115485285 T C rs141266925 CASP7 Nonsynonymous SNV F156L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.6 178723 chr16 68338047 68338047 C T SLC7A6OS Nonsynonymous SNV R187H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.522 178724 chr19 16060523 16060523 C T rs61732447 OR10H4 Nonsynonymous SNV R236W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 178725 chr19 16136591 16136591 C A rs116387551 LINC00661 0 0 0.003 0 0 0 0 1 0 0 0 0 4.26 178726 chr19 16145371 16145371 G A rs116326280 LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 1.118 178727 chr19 16146506 16146506 C A rs114713347 LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 0.874 178728 chr19 16146783 16146783 C T rs115283491 LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 5.963 178729 chr19 16186865 16186865 G A rs114042568 TPM4 Synonymous SNV E41E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.993 178730 chr19 16790943 16790943 A G rs115868215 TMEM38A Synonymous SNV S91S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.106 178731 chr19 16855457 16855457 C T rs75226566 NWD1 Nonsynonymous SNV R142C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.3 178732 chr6 76369087 76369087 A G rs202089228 SENP6 Synonymous SNV L213L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.342 178733 chr16 70289732 70289732 G A rs138081804 AARS1 Nonsynonymous SNV R729W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 178734 chr19 16870144 16870144 C T rs61736006 NWD1 Synonymous SNV F420F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 178735 chr18 22804517 22804517 T C rs746954100 ZNF521 Nonsynonymous SNV E902G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.22 178736 chr19 17122559 17122559 C T rs143659566 CPAMD8 Synonymous SNV T92T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 178737 chr19 12936570 12936570 G C rs762089247 RTBDN Nonsynonymous SNV L214V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.778 178738 chr6 89978747 89978747 G A rs750763228 GABRR2 Synonymous SNV H165H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 178739 chr19 17337802 17337802 G A rs116350920 OCEL1 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.932 178740 chr19 13993631 13993631 G C rs1054207479 C19orf57 Nonsynonymous SNV P515R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.557 178741 chr7 141619200 141619200 C T rs782585959 OR9A4 Synonymous SNV N175N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.14 178742 chr16 72828427 72828427 C T rs150499144 ZFHX3 Synonymous SNV A1804A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.19 178743 chr19 17370202 17370202 T C rs16981707 USHBP1 Synonymous SNV L250L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.127 178744 chr5 159821116 159821116 T C rs201215050 ZBED8 Nonsynonymous SNV Y461C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 178745 chr19 17395038 17395038 G A rs34112069 ANKLE1 Nonsynonymous SNV V410M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.16 178746 chr19 17396333 17396333 G A rs34420350 ANKLE1 Synonymous SNV G453G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.034 178747 chr19 17397381 17397381 C A rs145955984 ANKLE1 Nonsynonymous SNV P551T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 178748 chr7 141952371 141952371 C T rs143342567 PRSS58 Nonsynonymous SNV R166H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.89 178749 chr19 14562758 14562758 G A rs201757832 PKN1 Nonsynonymous SNV R363H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 178750 chr6 90577847 90577847 A G rs139983441 CASP8AP2 Nonsynonymous SNV E1613G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 178751 chr19 17476251 17476251 G C rs3810208 PLVAP Synonymous SNV S341S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.679 178752 chr19 17547633 17547633 G A rs55761523 TMEM221 Synonymous SNV H170H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.667 178753 chr19 17599811 17599811 C A rs115772896 LOC100507551 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.96 178754 chr14 54417372 54417372 G A rs770008356 BMP4 Nonsynonymous SNV T202M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 178755 chr19 17743927 17743927 G A rs113090566 UNC13A Synonymous SNV Y1097Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.41 178756 chr19 17865988 17865988 G C rs16981943 FCHO1 Synonymous SNV G5G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.38 178757 chr19 17949093 17949093 G A rs144203232 JAK3 Synonymous SNV I516I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.641 178758 chr7 143208264 143208264 A C rs555229480 OR10AC1 Nonsynonymous SNV L247W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.006 178759 chr19 18120659 18120659 C T rs773728534 ARRDC2 Synonymous SNV A215A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 178760 chr6 106975277 106975277 T G rs1350902 CRYBG1 Nonsynonymous SNV L1096V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.417 178761 chr19 18255967 18255967 C T rs73925427 MAST3 Synonymous SNV Y960Y 0 0 0.01 0 0 0 0 3 0 0 0 0 14.07 178762 chr6 107001414 107001414 A T rs1676015 CRYBG1 Nonsynonymous SNV T1445S 0.007 0.008 0 2 8 3 0.005 0 0 0 0 0 23.1 178763 chr19 18652521 18652521 G A rs11574806 FKBP8 Nonsynonymous SNV A87V 0 0.003 0.014 0 0 1 0 4 0 0 1 0 8.462 178764 chr19 18679400 18679400 G A rs28681686 KXD1 Nonsynonymous SNV G164S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 178765 chr19 19115002 19115002 T C rs10409265 SUGP2 Synonymous SNV R968R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.19 178766 chr19 19115264 19115264 C T rs35646935 SUGP2 Nonsynonymous SNV R881Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.243 178767 chr19 19121056 19121056 T C rs10414535 SUGP2 Nonsynonymous SNV Q649R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 178768 chr19 19135502 19135502 A G rs10404860 SUGP2 Nonsynonymous SNV M552T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.004 178769 chr19 19165082 19165082 G C rs10414859 ARMC6 Synonymous SNV L300L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.75 178770 chr19 19168389 19168389 C T rs151323112 ARMC6 Synonymous SNV V461V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.05 178771 chr19 1918181 1918181 C T rs116594971 SCAMP4 Synonymous SNV G20G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.44 178772 chr19 19231933 19231933 C T rs145326108 TMEM161A Synonymous SNV L216L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 178773 chr19 19291568 19291568 G A rs61115485 BORCS8 Nonsynonymous SNV P110L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 178774 chr19 19330022 19330022 G A rs73537469 NCAN Synonymous SNV T124T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.83 178775 chr19 19369489 19369489 T C rs80354663 HAPLN4 Synonymous SNV Q220Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.689 178776 chr16 84486805 84486805 C T rs562741079 ATP2C2 Synonymous SNV S480S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.76 178777 chr19 19774448 19774448 C T rs115355442 ATP13A1 Nonsynonymous SNV A10T 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 178778 chr19 1987687 1987687 G A rs75450732 BTBD2 Synonymous SNV P331P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.796 178779 chr7 150655244 150655244 T A KCNH2 Synonymous SNV R273R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 8.348 178780 chr19 21948526 21948526 C G rs116085361 ZNF100 Nonsynonymous SNV R22S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.213 178781 chr7 150934669 150934669 G A rs147884296 CHPF2 Synonymous SNV L407L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.018 178782 chr19 22817277 22817278 GT - rs148713444 ZNF492 0 0 0.003 0 0 0 0 1 0 0 0 0 178783 chr19 23937645 23937645 C T rs993600149 ZNF681 Nonsynonymous SNV R69K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.203 178784 chr14 70991223 70991223 A G rs376577554 ADAM20 Synonymous SNV A84A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.21 178785 chr19 2878013 2878013 G A rs35296337 ZNF556 Nonsynonymous SNV A352T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.862 178786 chr7 158716372 158716372 T C rs201245664 WDR60 Synonymous SNV S544S 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.016 178787 chr18 56246857 56246857 C T rs937781711 ALPK2 Nonsynonymous SNV G384E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 178788 chr19 2991883 2991883 C T rs114814891 TLE6 Synonymous SNV V306V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.994 178789 chr19 3002388 3002388 G A rs200084747 TLE2 Synonymous SNV H548H 0 0 0.003 0 0 0 0 1 0 0 0 0 11 178790 chr18 57000458 57000458 G A rs138275646 LMAN1 Synonymous SNV T413T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 178791 chr19 3110203 3110203 G A rs147528229 GNA11 Nonsynonymous SNV A65T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.95 178792 chr14 75230441 75230441 G C YLPM1 Synonymous SNV P83P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.466 178793 chr19 33131227 33131227 C T rs10410241 ANKRD27 Synonymous SNV T323T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.19 178794 chr19 33183445 33183445 G C rs185004934 NUDT19 Synonymous SNV A193A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 178795 chr19 33302252 33302252 C T rs149805514 TDRD12 Nonsynonymous SNV L992F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 178796 chr19 33600896 33600896 T C rs16967805 GPATCH1 Nonsynonymous SNV L520S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 178797 chr19 33605316 33605316 C T rs148807065 GPATCH1 Synonymous SNV S729S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 178798 chr19 33639807 33639807 G A rs138538856 WDR88 Nonsynonymous SNV V224I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.023 178799 chr19 33701398 33701398 C T rs34663170 SLC7A10 Nonsynonymous SNV R413Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 178800 chr19 33701520 33701520 G A rs61182747 SLC7A10 Synonymous SNV C372C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.658 178801 chr19 34263557 34263557 G T rs61733524 CHST8 Synonymous SNV L288L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.461 178802 chr19 34895649 34895649 C T rs78302093 PDCD2L Synonymous SNV G68G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.01 178803 chr19 3496708 3496708 G T rs141419837 DOHH Synonymous SNV G35G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.06 178804 chr19 35136830 35136830 T C rs114877972 SCGB2B3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.787 178805 chr19 35251344 35251344 G A rs62623436 ZNF599 Nonsynonymous SNV A121V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.91 178806 chr19 3532000 3532000 G A rs185829085 FZR1 Synonymous SNV S216S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 178807 chr19 35434986 35434986 C T rs61181887 ZNF30 Synonymous SNV Y373Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.886 178808 chr19 35510321 35510321 C T rs147041737 GRAMD1A Synonymous SNV A446A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 178809 chr19 3557152 3557152 C T rs114247060 MFSD12 Nonsynonymous SNV A84T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.81 178810 chr19 35617293 35617293 C T rs77357560 LGI4 Nonsynonymous SNV G394S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.16 178811 chr19 19338242 19338242 T C rs145802020 NCAN Nonsynonymous SNV S605P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 178812 chr19 35940752 35940752 A G rs73931123 FFAR2 Nonsynonymous SNV I46V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.5 178813 chr16 89799911 89799911 C G ZNF276 Stop gain Y434X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 37 178814 chr19 36159261 36159261 G A rs57670318 UPK1A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.936 178815 chr19 36297489 36297489 C T rs149964020 PRODH2 Nonsynonymous SNV E358K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.79 178816 chr19 36303414 36303414 G A rs144896125 PRODH2 Synonymous SNV G149G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.017 178817 chr19 36330277 36330277 C G rs34736717 NPHS1 Nonsynonymous SNV V991L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.85 178818 chr19 36361809 36361809 G A rs77209402 APLP1 Synonymous SNV E101E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 178819 chr18 76829519 76829519 C A ATP9B Synonymous SNV R37R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.23 178820 chr6 24596173 24596173 A G rs746884367 KIAA0319 Synonymous SNV S198S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.768 178821 chr17 11797758 11797758 C T rs147952506 DNAH9 Nonsynonymous SNV T96M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 178822 chr14 94528824 94528824 G A DDX24 Nonsynonymous SNV P288S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.686 178823 chr17 13503850 13503850 G A rs1024554136 HS3ST3A1 Synonymous SNV Y199Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.63 178824 chr8 18730062 18730062 G A rs183792270 PSD3 Synonymous SNV L71L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 1.312 178825 chr18 8624983 8624983 A C rs369974931 RAB12 Synonymous SNV R92R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.55 178826 chr18 9595055 9595055 C A rs760333557 PPP4R1 Nonsynonymous SNV R50I 0.002 0 0 0 2 0 0 0 0 0 0 0 32 178827 chr6 27369001 27369001 A G ZNF391 Synonymous SNV K284K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.766 178828 chr19 1007740 1007740 G T rs981797690 GRIN3B Synonymous SNV A722A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.345 178829 chr19 30500119 30500124 TGATGA - rs541497604 URI1 D292_D293del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 178830 chr19 3204118 3204118 C T rs148751207 NCLN Synonymous SNV H335H 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 10.22 178831 chr6 160183225 160183225 C G SOD2-OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 178832 chr19 38655327 38655327 G T rs61729146 SIPA1L3 Nonsynonymous SNV R1330L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.8 178833 chr19 38682881 38682881 C T rs59655650 SIPA1L3 Synonymous SNV T1509T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.92 178834 chr17 17720276 17720276 G C SREBF1 Nonsynonymous SNV A570G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 178835 chr19 38684261 38684261 G C rs61735490 SIPA1L3 Nonsynonymous SNV A1561P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.668 178836 chr19 35251142 35251143 TT - rs571541043 ZNF599 K188Rfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 178837 chr19 39322045 39322045 T C rs35296819 ECH1 Nonsynonymous SNV Y55C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 178838 chr12 82780601 82780601 A G rs143944821 METTL25 Synonymous SNV K6K 0.003 0 0 3 4 0 0.008 0 0 0 0 0 3.432 178839 chr19 39416935 39416935 C T rs144229840 SARS2 Synonymous SNV S91S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.4 178840 chr19 39589177 39589177 G A rs11881432 ACP7 Synonymous SNV S67S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.092 178841 chr19 39798364 39798364 G A rs62643365 LRFN1 Nonsynonymous SNV A742V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 178842 chr19 35941368 35941368 G A rs139764605 FFAR2 Nonsynonymous SNV S251N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.43 178843 chr19 39912870 39912870 C T rs35904695 PLEKHG2 Nonsynonymous SNV T481I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 26.1 178844 chr12 8670815 8670815 G A rs138087450 CLEC4D Synonymous SNV E59E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.792 178845 chr19 10747204 10747204 G T rs199917631 SLC44A2 Nonsynonymous SNV R478L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 178846 chr8 29195971 29195971 G A rs2230514 DUSP4 Synonymous SNV Y209Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.266 178847 chr6 35048922 35048922 G A rs146610677 ANKS1A Nonsynonymous SNV R899H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 178848 chr19 40542427 40542427 G A rs766830919 ZNF780B Synonymous SNV L113L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.798 178849 chr19 40901041 40901041 T C rs61733451 PRX Nonsynonymous SNV E1073G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.1 178850 chr19 40901790 40901790 C T rs61733450 PRX Synonymous SNV A823A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 10.21 178851 chr19 12125814 12125814 C T rs766095889 ZNF433 Nonsynonymous SNV C623Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 178852 chr7 933544 933544 C T GET4 Synonymous SNV D277D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.349 178853 chr19 41173388 41173388 G A rs139291809 NUMBL Synonymous SNV F564F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.767 178854 chr6 36690491 36690491 C T rs530309374 RAB44 Synonymous SNV T860T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.122 178855 chr19 4171739 4171739 G A rs142789769 CREB3L3 Nonsynonymous SNV E386K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.71 178856 chr19 41749530 41749530 T C rs149411519 AXL Synonymous SNV F217F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.886 178857 chr19 4179202 4179202 C T rs146571039 SIRT6 Synonymous SNV T20T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 178858 chr19 13994188 13994188 C T rs139146061 C19orf57 Nonsynonymous SNV E479K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.42 178859 chr19 42085701 42085701 C T rs77612817 CEACAM21 Synonymous SNV S12S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 178860 chr19 38384399 38384399 G A rs185192747 WDR87 Synonymous SNV H648H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.277 178861 chr19 42133267 42133267 C G rs115582444 CEACAM4 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 178862 chr15 41099926 41099926 G A rs749863222 ZFYVE19 Nonsynonymous SNV G47R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.59 178863 chr19 42213833 42213833 T C rs112905632 CEACAM5 Nonsynonymous SNV I100T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.001 178864 chr19 42224849 42224849 G A rs147999822 CEACAM5 Synonymous SNV P593P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 3.837 178865 chr15 41816310 41816310 G A rs747293595 RPAP1 Nonsynonymous SNV P740S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 178866 chr19 42584890 42584890 C G rs35898322 ZNF574 Nonsynonymous SNV T801S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.46 178867 chr6 42603191 42603191 T C rs146009040 UBR2 Synonymous SNV H527H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.329 178868 chr19 42793404 42793404 A G rs112950169 CIC Synonymous SNV A402A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.482 178869 chr19 42814711 42814711 C A rs111321777 PRR19 Nonsynonymous SNV P297H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 178870 chr15 42042771 42042771 T C rs370500547 MGA Synonymous SNV V2113V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.074 178871 chr19 42828524 42828524 C G rs375268286 TMEM145 Nonsynonymous SNV P513R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 178872 chr19 42858748 42858748 C T rs35473255 MEGF8 Synonymous SNV Y1273Y 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 13.79 178873 chr19 42863381 42863381 G A rs116630802 MEGF8 Synonymous SNV L1758L 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 10.84 178874 chr19 42880126 42880126 G A rs78335246 MEGF8 Synonymous SNV T2512T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.8 178875 chr19 42912158 42912158 G A rs113931918 LIPE Synonymous SNV F542F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.59 178876 chr19 42912399 42912399 T G rs33921216 LIPE Nonsynonymous SNV N499H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 15.93 178877 chr19 39908558 39908558 G A rs1053602472 PLEKHG2 Nonsynonymous SNV R240Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 178878 chr19 42931007 42931007 G A rs116152392 LIPE Nonsynonymous SNV P99S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.467 178879 chr19 4298292 4298292 G T rs61753883 TMIGD2 Nonsynonymous SNV Q33K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 178880 chr17 26961753 26961753 C T rs61732688 KIAA0100 Nonsynonymous SNV R808H 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 23.3 178881 chr7 19738046 19738046 T C rs371600612 TWISTNB Nonsynonymous SNV S304G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.2 178882 chr13 111102120 111102120 C G COL4A2 Synonymous SNV L391L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.534 178883 chr19 41173733 41173733 A C rs199956156 NUMBL Nonsynonymous SNV F449L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 24 178884 chr19 44352690 44352690 G T rs10417624 ZNF283 Nonsynonymous SNV R507I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.6 178885 chr19 44377156 44377156 T A rs367904434 ZNF404 Nonsynonymous SNV I401F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 178886 chr19 16860096 16860096 T C rs149592897 NWD1 Nonsynonymous SNV C9R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.4 178887 chr19 4445547 4445547 G A rs35436704 UBXN6 Nonsynonymous SNV P372L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.97 178888 chr19 17160853 17160853 T C rs757135631 HAUS8 Nonsynonymous SNV R354G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 178889 chr19 44513054 44513054 A G rs778397006 ZNF230 Nonsynonymous SNV N43S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 178890 chr19 44514859 44514859 C T rs147553354 ZNF230 Nonsynonymous SNV P223L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 178891 chr19 44610954 44610954 G A rs73562196 ZNF224 Nonsynonymous SNV S214N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.496 178892 chr19 44611439 44611439 G C rs79804719 ZNF224 Nonsynonymous SNV E376Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.591 178893 chr19 44611654 44611654 G T rs58935748 ZNF224 Nonsynonymous SNV Q447H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.63 178894 chr19 42728982 42728982 T A ZNF526 Nonsynonymous SNV W143R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.875 178895 chr19 42777948 42777948 C T rs543540678 CIC Synonymous SNV G671G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.181 178896 chr19 44933732 44933732 G A rs145520471 ZNF229 Synonymous SNV S402S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 178897 chr19 44934535 44934535 G C rs200118348 ZNF229 Nonsynonymous SNV Q135E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 178898 chr19 43031414 43031414 T C rs147100915 CEACAM1 Nonsynonymous SNV Y68C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 178899 chr11 5968802 5968802 G A rs957219841 OR56A3 Nonsynonymous SNV V76M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.95 178900 chr19 17743981 17743981 C T UNC13A Synonymous SNV V1079V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.03 178901 chr19 44351869 44351869 G C ZNF283 Nonsynonymous SNV K233N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 178902 chr19 45153370 45153370 C T rs113996429 PVR Synonymous SNV T239T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.12 178903 chr19 45285734 45285734 G A rs10416628 CBLC Synonymous SNV R255R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.737 178904 chr19 45321841 45321841 G A rs28399626 BCAM Nonsynonymous SNV V381I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.122 178905 chr19 4534070 4534070 G A rs10407239 PLIN5 Nonsynonymous SNV A6V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 178906 chr19 4538806 4538806 C T rs7251081 LRG1 Nonsynonymous SNV G64S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 178907 chr19 18474346 18474346 C T rs144146557 PGPEP1 Nonsynonymous SNV L118F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 178908 chr19 45901299 45901299 G A rs35414341 PPP1R13L Synonymous SNV P54P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.877 178909 chr19 46002453 46002453 T G rs138348201 PPM1N Synonymous SNV A241A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 178910 chr19 18699870 18699870 C A rs753507415 REX1BD Synonymous SNV G55G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.41 178911 chr19 46021319 46021319 G A rs10415373 VASP Nonsynonymous SNV A104T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.23 178912 chr17 38279081 38279081 C A rs1040037729 MSL1 Synonymous SNV A72A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 16.17 178913 chr19 46274998 46274998 - CCCGGC rs745642406 DM1-AS 0 0 0.017 0 0 0 0 5 0 0 0 0 178914 chr8 124748084 124748084 G C rs565031245 ANXA13 Nonsynonymous SNV Q17E 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 0.002 178915 chr19 18976136 18976136 A C rs747587766 UPF1 Nonsynonymous SNV I977L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.48 178916 chr19 46915286 46915286 G T rs143467587 CCDC8 Nonsynonymous SNV S261Y 0 0 0.007 0 0 0 0 2 0 0 0 0 17.71 178917 chr6 87970294 87970294 G A ZNF292 Nonsynonymous SNV R2316Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 178918 chr15 64215410 64215410 G C rs532188597 DAPK2 Nonsynonymous SNV R331G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.24 178919 chr19 47778589 47778589 G A rs873360 INAFM1 Nonsynonymous SNV G138E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.7 178920 chr19 47844185 47844185 C T rs138613140 C5AR2 Synonymous SNV A43A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.889 178921 chr19 47844690 47844690 C T C5AR2 Nonsynonymous SNV P212S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 178922 chr19 47879254 47879254 G A rs146804493 DHX34 Nonsynonymous SNV R794H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.04 178923 chr19 47935479 47935479 G A rs28637631 SLC8A2 Synonymous SNV G778G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 178924 chr19 47969265 47969265 C A rs61744638 SLC8A2 Synonymous SNV T132T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 178925 chr19 47983633 47983633 C G rs182019900 KPTN Nonsynonymous SNV G155R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.8 178926 chr19 2251387 2251387 G A AMH Nonsynonymous SNV A372T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 178927 chr19 48342796 48342796 G A rs61748445 CRX Nonsynonymous SNV A158T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.49 178928 chr19 48578082 48578082 A G rs3218742 PLA2G4C Synonymous SNV N326N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.671 178929 chr7 48312796 48312796 G T ABCA13 Nonsynonymous SNV G1178V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.709 178930 chr19 48618966 48618966 T C rs1803907 LIG1 Synonymous SNV Q832Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.327 178931 chr19 48647197 48647197 T C rs3730933 LIG1 Nonsynonymous SNV N199S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 178932 chr19 48715036 48715036 G A rs8112588 CARD8 Synonymous SNV D465D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.633 178933 chr19 48789595 48789595 A G rs16981958 ZNF114 Synonymous SNV A238A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.418 178934 chr19 48806270 48806270 C T rs79967289 CCDC114 Synonymous SNV E320E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.28 178935 chr19 48821819 48821819 C T rs7248372 CCDC114 Nonsynonymous SNV R25H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.03 178936 chr19 49004344 49004344 G A rs115496266 LMTK3 Synonymous SNV L383L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 11.96 178937 chr19 49129169 49129169 G A rs74494034 SPHK2 Nonsynonymous SNV G21R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 178938 chr19 49132646 49132646 G A rs75629654 SPHK2 Synonymous SNV L491L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.249 178939 chr19 49133020 49133020 G A rs11881285 SPHK2 Nonsynonymous SNV R616Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 178940 chr19 2987046 2987046 G A rs765942359 TLE6 Synonymous SNV E117E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.768 178941 chr6 106553257 106553257 G C rs144524449 PRDM1 Nonsynonymous SNV A274P 0.003 0.01 0 6 4 4 0.015 0 0 0 0 0 not provided 1.954 178942 chr19 30433519 30433519 T C rs189187 URI1 Nonsynonymous SNV L22P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.046 178943 chr19 49253717 49253717 G T rs838138 FUT1 Synonymous SNV T274T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.147 178944 chr19 30308375 30308375 A C rs200523129 CCNE1 Nonsynonymous SNV D115A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 178945 chr19 49377212 49377212 A G rs114477690 PPP1R15A Nonsynonymous SNV K241R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.356 178946 chr19 49378091 49378091 G A rs114326964 PPP1R15A Nonsynonymous SNV R534Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 178947 chr19 49425576 49425576 C T rs62641719 NUCB1 Synonymous SNV D427D 0 0 0.007 0 0 0 0 2 0 0 0 0 4.623 178948 chr19 49439363 49439363 G A rs61742532 DHDH Nonsynonymous SNV V93I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 178949 chr19 49477474 49477474 T C rs5448 GYS1 Synonymous SNV T451T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.195 178950 chr19 49573704 49573704 G A rs77918139 KCNA7 Synonymous SNV A329A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.873 178951 chr19 49657711 49657725 CATCATCATCATCAT - rs534731199 HRC D257_D261del 0 0 0.007 0 0 0 0 2 0 0 1 0 178952 chr7 71275359 71275359 T C CALN1 Nonsynonymous SNV N165S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 178953 chr19 49956609 49956609 G A rs61732837 ALDH16A1 Synonymous SNV G7G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 178954 chr19 49967404 49967404 G C rs61732836 ALDH16A1 Synonymous SNV V354V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.431 178955 chr19 50059871 50059871 G C NOSIP Synonymous SNV R220R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 178956 chr13 61103124 61103124 G A TDRD3 Nonsynonymous SNV G589R 0 0 0 1 0 0 0.003 0 0 0 0 0 29 178957 chr19 50166650 50166650 C T rs968457 IRF3 Nonsynonymous SNV R96Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.24 178958 chr19 50386952 50386952 C T rs754494147 TBC1D17 Nonsynonymous SNV P326L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 178959 chr19 50412862 50412862 G C rs141139699 NUP62 Nonsynonymous SNV A68G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 178960 chr19 50434197 50434197 C T rs12449 ATF5 Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.92 178961 chr19 50435755 50435755 C A rs1152227 ATF5 Synonymous SNV P85P 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 12.47 178962 chr19 50789795 50789795 C T rs35453633 MYH14 Synonymous SNV A1491A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 13.95 178963 chr17 40933122 40933122 T G WNK4 Nonsynonymous SNV S136A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 178964 chr19 50881585 50881585 A C rs60638904 NR1H2 Synonymous SNV R121R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 178965 chr13 77672767 77672767 C T rs142807127 MYCBP2 Nonsynonymous SNV R2841H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23 178966 chr19 50882008 50882008 A G rs2695122 NR1H2 Synonymous SNV Q137Q 0 0 0.007 0 0 0 0 2 0 0 0 0 8.738 178967 chr19 50902659 50902659 C G rs2228665 POLD1 Synonymous SNV R78R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.157 178968 chr19 48626467 48626467 C G rs140821248 LIG1 Nonsynonymous SNV E637Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 178969 chr19 50905310 50905310 G A rs1726803 POLD1 Nonsynonymous SNV S173N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.357 178970 chr19 50906785 50906785 C T rs2230244 POLD1 Synonymous SNV D391D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 15.08 178971 chr19 50910284 50910284 G A rs2230246 POLD1 Synonymous SNV L513L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.856 178972 chr7 77398017 77398017 C G rs758709558 RSBN1L Nonsynonymous SNV Q508E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.357 178973 chr19 50910293 50910293 C T rs2230247 POLD1 Synonymous SNV A516A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.21 178974 chr19 50912126 50912126 G A rs1726790 POLD1 Synonymous SNV T646T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.22 178975 chr19 3599923 3599923 C T rs202065690 TBXA2R Nonsynonymous SNV R237Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 178976 chr19 50919694 50919694 G C rs3219440 POLD1 Synonymous SNV T980T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.48 178977 chr19 51015427 51015427 G A rs184745585 ASPDH Synonymous SNV S153S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.981 178978 chr19 51321525 51321525 G A rs3212845 LINC01869 0 0 0.044 0 0 0 0 13 0 0 0 0 8.666 178979 chr11 27520289 27520289 A C rs917570250 LIN7C Synonymous SNV V167V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.134 178980 chr19 51582090 51582090 G A rs79507858 KLK14 Synonymous SNV G195G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.022 178981 chr19 51656227 51656227 C T rs113693279 LOC101928517 0 0 0.007 0 0 0 0 2 0 0 1 0 5.032 178982 chr19 51671458 51671460 CTC - rs141797944 SIGLEC17P 0 0 0.007 0 0 0 0 2 0 0 1 0 178983 chr19 51675752 51675752 T C rs139750636 SIGLEC17P 0 0 0.007 0 0 0 0 2 0 0 1 0 1.686 178984 chr19 51844753 51844753 T C rs181804034 VSIG10L Synonymous SNV A183A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 178985 chr19 51994926 51994926 T C rs7245807 SIGLEC12 Nonsynonymous SNV Y468C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 178986 chr19 52000616 52000616 T C rs28572419 SIGLEC12 Nonsynonymous SNV I379V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 178987 chr7 91603056 91603056 C T rs142401936 AKAP9 Nonsynonymous SNV S27L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 17.66 178988 chr19 52130931 52130931 G A rs8108078 SIGLEC5 Stop gain R356X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 178989 chr19 52196488 52196488 G A rs10404453 SPACA6P-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 5.439 178990 chr19 52207287 52207287 G A rs562440347 SPACA6 Nonsynonymous SNV R193Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14 178991 chr19 49686380 49686380 G A rs373981638 TRPM4 Nonsynonymous SNV A198T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.27 178992 chr19 52249603 52249603 G A rs35264765 FPR1 Synonymous SNV S215S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.047 178993 chr6 139159518 139159518 T C ECT2L Nonsynonymous SNV M70T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.263 178994 chr19 52393963 52393963 T C rs115110562 ZNF649 Nonsynonymous SNV S476G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.981 178995 chr19 52393973 52393973 G A rs113984940 ZNF649 Synonymous SNV S472S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.158 178996 chr15 89400204 89400204 C T rs369619909 ACAN Nonsynonymous SNV A1463V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.58 178997 chr19 50209197 50209197 C T rs199774629 CPT1C Synonymous SNV H332H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 18.92 178998 chr19 52919361 52919361 G A rs324109 ZNF528 Nonsynonymous SNV S419N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.041 178999 chr9 5072541 5072541 G T rs368927897 JAK2 Nonsynonymous SNV R415L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 25.9 179000 chr9 5787162 5787162 G A rs576696054 ERMP1 Synonymous SNV Y899Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.102 179001 chr19 53344175 53344175 G C rs139389670 ZNF468 Nonsynonymous SNV Q458E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.61 179002 chr19 53667874 53667874 T C rs10408337 ZNF665 Synonymous SNV E623E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179003 chr6 151738529 151738529 C T rs142588921 RMND1 Nonsynonymous SNV R192H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 23.3 179004 chr19 53856309 53856309 C T rs374390031 ZNF845 Nonsynonymous SNV T794I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 179005 chr19 53884458 53884458 G A rs4570987 ZNF525 Nonsynonymous SNV R209H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179006 chr19 54074981 54074981 C T rs61741794 ZNF331 Synonymous SNV L45L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.3 179007 chr19 54105302 54105302 G A rs16985066 LOC284379 0 0 0.007 0 0 0 0 2 0 0 0 0 1.317 179008 chr19 54228774 54228775 TT - rs10583889 MIR516B2 0 0 0.007 0 0 0 0 2 0 0 0 0 179009 chr19 54245788 54245788 G A rs56013413 MIR520H 0 0 0.031 0 0 0 0 9 0 0 0 0 1.58 179010 chr19 54377200 54377200 C T rs114795210 MYADM Synonymous SNV A139A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 179011 chr9 18941686 18941686 C G rs148609380 SAXO1 Nonsynonymous SNV D59H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 179012 chr19 54410114 54410114 A G rs73937614 PRKCG Nonsynonymous SNV S687G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.28 179013 chr19 54720967 54720967 G A rs114510580 LILRB3 Nonsynonymous SNV H632Y 0 0 0.007 0 0 0 0 2 0 0 1 0 21.4 179014 chr19 54721272 54721272 C T rs114189491 LILRB3 Nonsynonymous SNV M556I 0 0 0.007 0 0 0 0 2 0 0 1 0 3.078 179015 chr19 54849250 54849250 G T rs149766788 LILRA4 Stop gain Y204X 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 179016 chr19 55043991 55043991 G A rs369230128 KIR3DX1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.081 179017 chr19 52216940 52216940 G A rs771653891 HAS1 Nonsynonymous SNV R492W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 179018 chr19 55175297 55175297 C T rs55733143 LILRB4 Synonymous SNV T81T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.715 179019 chr19 55175795 55175795 G A rs73933937 LILRB4 Nonsynonymous SNV G201R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 179020 chr19 52249918 52249918 G A rs539229723 FPR1 Synonymous SNV F110F 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 10.49 179021 chr19 41086245 41086245 G A rs146113659 SHKBP1 Nonsynonymous SNV R139Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24 179022 chr19 55222125 55222125 A G rs7245805 LILRP2 0 0 0.014 0 0 0 0 4 0 0 0 0 6.183 179023 chr19 55441971 55441971 G A rs61746780 NLRP7 Synonymous SNV A902A 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 Likely benign 1.494 179024 chr19 55526026 55526026 C T rs74697203 GP6 Stop gain W429X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 33 179025 chr19 41928229 41928229 C T rs775754845 BCKDHA Synonymous SNV Y269Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 14.16 179026 chr19 41945399 41945399 A G rs187336429 DMAC2 Synonymous SNV L6L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.107 179027 chr19 55815072 55815072 C T rs17851414 BRSK1 Synonymous SNV S388S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.35 179028 chr19 42703905 42703905 G A rs777511987 DEDD2 Synonymous SNV P222P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.798 179029 chr19 55858799 55858799 C T rs73607029 KMT5C Synonymous SNV V457V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.74 179030 chr19 55869666 55869666 G C rs145145678 FAM71E2 Nonsynonymous SNV P857R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 179031 chr14 23517385 23517385 G C CDH24 Nonsynonymous SNV P717R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 179032 chr19 53116408 53116408 T C rs61742678 ZNF83 Synonymous SNV S470S 0 0.008 0.003 0 0 3 0 1 0 0 0 0 0.053 179033 chr19 56030017 56030017 C T rs114996936 SSC5D Synonymous SNV T1458T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 179034 chr19 56125680 56125680 C G rs114179199 ZNF865 Synonymous SNV S232S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 179035 chr19 56249615 56249615 G C rs80009430 NLRP9 Nonsynonymous SNV I42M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 179036 chr19 56321577 56321577 T C rs61751897 NLRP11 Synonymous SNV Q34Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 179037 chr19 44470364 44470364 A G rs547885017 ZNF221 Nonsynonymous SNV Q237R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.84 179038 chr19 56467260 56467260 T C rs61750017 NLRP8 Synonymous SNV C612C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 179039 chr19 56473493 56473493 G A rs79809983 NLRP8 Synonymous SNV T701T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.863 179040 chr19 56565154 56565154 C T rs34819797 NLRP5 Synonymous SNV N1093N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.192 179041 chr19 56599914 56599914 C T rs7259983 ZNF787 Synonymous SNV A209A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 15.35 179042 chr7 103281044 103281044 G A rs201044262 RELN Nonsynonymous SNV P672L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.9 179043 chr19 56717419 56717419 A G rs113755664 ZSCAN5C Nonsynonymous SNV N46S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.014 179044 chr19 56718431 56718431 G A rs147141524 ZSCAN5C Nonsynonymous SNV V130I 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.003 179045 chr19 56719859 56719859 A G rs138336861 ZSCAN5C Nonsynonymous SNV R261G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 179046 chr19 56734081 56734081 A G rs143209101 ZSCAN5A Synonymous SNV I89I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.195 179047 chr19 56901457 56901457 C T rs61743722 ZNF582 Nonsynonymous SNV V80I 0 0 0.007 0 0 0 0 2 0 0 1 0 0.221 179048 chr19 54756400 54756400 C T rs367690586 LILRB5 Nonsynonymous SNV R396H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.163 179049 chr19 57328023 57328023 T C rs79960989 PEG3 Nonsynonymous SNV H441R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 179050 chr16 2131755 2131755 C T rs45466493 TSC2 Nonsynonymous SNV A1013V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.6 179051 chr19 5789527 5789527 C T rs35133593 DUS3L Synonymous SNV A197A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 179052 chr19 57955624 57955624 G A rs61997241 ZNF749 Nonsynonymous SNV G283S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.171 179053 chr9 100076751 100076751 G A rs149686529 CCDC180 Nonsynonymous SNV R223H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 179054 chr9 100092918 100092918 G C rs79340881 CCDC180 Nonsynonymous SNV G759R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.251 179055 chr9 100133973 100133973 G A rs2306093 CCDC180 Nonsynonymous SNV D1573N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 179056 chr19 581371 581371 A G rs11551900 BSG Synonymous SNV S103S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.136 179057 chr19 58189965 58189965 A C rs149525101 ZSCAN4 Synonymous SNV R332R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 179058 chr19 58213513 58213513 A G rs150370992 ZNF154 Synonymous SNV T268T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.582 179059 chr19 58232263 58232263 A G rs112677317 ZNF671 Synonymous SNV Y299Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 179060 chr19 58262182 58262182 G A rs58446072 ZNF776 Synonymous SNV V21V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 179061 chr19 58438352 58438352 C T rs145102891 ZNF418 Synonymous SNV E314E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 179062 chr19 58469996 58469996 G A rs8110831 C19orf18 Nonsynonymous SNV H208Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 179063 chr19 45852132 45852132 C T rs199706544 KLC3 Nonsynonymous SNV R308W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 179064 chr19 45855848 45855848 G A rs762985501 ERCC2 Synonymous SNV F654F 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.326 179065 chr19 46257000 46257000 G T BHMG1 Nonsynonymous SNV Q170H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.64 179066 chr16 24372878 24372878 G C CACNG3 Nonsynonymous SNV E214D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 179067 chr7 6692137 6692137 C T rs189975373 ZNF316 Synonymous SNV L304L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.26 179068 chr19 58880082 58880082 A G rs569923844 ZNF837 Synonymous SNV F206F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.987 179069 chr19 5893221 5893221 C G rs192066309 NDUFA11 Nonsynonymous SNV A132P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.67 179070 chr19 58988733 58988733 C T rs35375661 ZNF446 Synonymous SNV L50L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.692 179071 chr19 58991385 58991385 G A rs372496370 ZNF446 Synonymous SNV S267S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.524 179072 chr19 59023213 59023213 A C rs146147877 SLC27A5 Nonsynonymous SNV L37R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 179073 chr19 59074322 59074322 C G rs2229255 MZF1 Nonsynonymous SNV R441P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 179074 chr11 57243689 57243689 C T RTN4RL2 Nonsynonymous SNV R190C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 179075 chr19 5908850 5908850 C T rs116353040 VMAC Synonymous SNV L69L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.078 179076 chr19 56370595 56370596 AG - NLRP4 E613Gfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 179077 chr19 5915237 5915237 A G rs77750510 CAPS Synonymous SNV T158T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.364 179078 chr17 72877266 72877266 C G rs149704371 FADS6 Nonsynonymous SNV A220P 0.003 0 0 0 3 0 0 0 0 0 0 0 29.4 179079 chr19 6531285 6531285 G T rs2234175 TNFSF9 Nonsynonymous SNV D80Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.976 179080 chr14 57741242 57741242 C T rs200835725 AP5M1 Nonsynonymous SNV R119C 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 31 179081 chr19 56466392 56466392 C T rs145359925 NLRP8 Nonsynonymous SNV T323M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 179082 chr19 6750393 6750393 G A rs34808063 TRIP10 Nonsynonymous SNV A440T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 179083 chr19 7132275 7132275 C T rs147125937 INSR Synonymous SNV R900R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.16 179084 chr16 3063709 3063709 C T rs34769999 CLDN9 Nonsynonymous SNV R116C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 179085 chr17 73502961 73502961 G A rs145613882 CASKIN2 Synonymous SNV L53L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.498 179086 chr19 7505367 7505367 G A rs115555106 ARHGEF18 Nonsynonymous SNV G127R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.3 179087 chr19 7506800 7506800 C T rs116148705 ARHGEF18 Nonsynonymous SNV P166S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.979 179088 chr19 7506936 7506936 A T rs74497723 ARHGEF18 Nonsynonymous SNV Y211F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 179089 chr19 757037 757037 T C rs35093527 MISP Nonsynonymous SNV Y31H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.03 179090 chr11 60197277 60197277 G T MS4A5 Nonsynonymous SNV A44S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 179091 chr19 48784888 48784888 A G rs565204067 ZNF114 Nonsynonymous SNV N30S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.04 179092 chr19 7675483 7675483 C T rs57521028 CAMSAP3 Synonymous SNV Y294Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.141 179093 chr19 7682862 7682862 C G rs4134883 CAMSAP3 Synonymous SNV V1223V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.94 179094 chr19 7684502 7684502 G A rs4134869 XAB2 Synonymous SNV A846A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 179095 chr17 73894960 73894960 T A rs141165409 MRPL38 Nonsynonymous SNV S372C 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 179096 chr19 7707369 7707369 G A rs34450592 STXBP2 Synonymous SNV E280E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.646 179097 chr19 7712364 7712364 A G rs61736586 STXBP2 Nonsynonymous SNV R552G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.96 179098 chr7 27213132 27213132 C T HOXA10 Nonsynonymous SNV R265Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 179099 chr19 7807955 7807955 G A rs11465394 CD209 Synonymous SNV A259A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.738 179100 chr19 813590 813590 C T rs375358427 PLPPR3 Synonymous SNV R407R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 179101 chr19 8140037 8140037 A C rs35477781 FBN3 Nonsynonymous SNV H2540Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 179102 chr19 8150393 8150393 C T rs17160151 FBN3 Nonsynonymous SNV S2314N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 24.4 179103 chr19 8161777 8161777 C T rs61735544 FBN3 Nonsynonymous SNV G1801R 0.001 0 0.007 0 1 0 0 2 0 0 1 0 25.6 179104 chr19 8367427 8367427 C T rs2232786 CD320 Nonsynonymous SNV E215K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.78 179105 chr19 8389583 8389583 C T rs61747967 KANK3 Synonymous SNV E738E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 179106 chr19 8438629 8438629 C T rs3183953 ANGPTL4 Synonymous SNV N322N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 14.46 179107 chr19 8555873 8555875 CTC - rs147092195 PRAM1 E547del 0 0 0.003 0 0 0 0 1 0 0 0 0 179108 chr19 8615152 8615152 G A rs34507143 MYO1F Synonymous SNV G327G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.3 179109 chr19 8649879 8649879 C T rs10405956 ADAMTS10 Synonymous SNV T521T 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 Benign/Likely benign 12.01 179110 chr17 75199717 75199717 G A rs373124926 SEC14L1 Nonsynonymous SNV G325R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 179111 chr19 868421 868421 G A rs35040519 MED16 Synonymous SNV N826N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 8.801 179112 chr9 123156816 123156816 C T rs769433619 CDK5RAP2 Nonsynonymous SNV R1621H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 179113 chr19 886088 886088 C A rs11492 MED16 Synonymous SNV L187L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 17.28 179114 chr19 8922729 8922729 T C rs56383995 ZNF558 Nonsynonymous SNV H75R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 179115 chr9 123874799 123874799 A T rs767514519 CNTRL Nonsynonymous SNV E355D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 179116 chr19 6534760 6534760 C T rs77313944 TNFSF9 Nonsynonymous SNV R150W 0 0.005 0 0 0 2 0 0 0 0 0 0 25.1 179117 chr19 50918112 50918112 C T rs765981178 POLD1 Nonsynonymous SNV A836V 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 179118 chr14 75248198 75248198 A G YLPM1 Synonymous SNV T484T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.506 179119 chr17 7690337 7690337 G A rs371514138 DNAH2 Nonsynonymous SNV A2197T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.313 179120 chr17 7755572 7755572 G A rs774880340 KDM6B Synonymous SNV V1462V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.727 179121 chr7 151074299 151074299 - AAG NUB1 K638_N639insK 0.001 0 0 0 1 0 0 0 0 0 0 0 179122 chr7 151078626 151078626 C G WDR86 Nonsynonymous SNV G218A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.475 179123 chr19 9058351 9058351 G T rs7248079 MUC16 Nonsynonymous SNV H9699N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.57 179124 chr19 9059415 9059415 T C rs28442218 MUC16 Nonsynonymous SNV D9344G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.078 179125 chr19 9061145 9061145 C T rs10416799 MUC16 Synonymous SNV T8767T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 179126 chr19 9064825 9064825 T C rs116088176 MUC16 Nonsynonymous SNV T7541A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 179127 chr19 9065016 9065016 G A rs75948424 MUC16 Nonsynonymous SNV T7477M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 179128 chr19 9066759 9066759 G T rs28752016 MUC16 Nonsynonymous SNV S6896Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.755 179129 chr19 9070912 9070912 G A rs112717151 MUC16 Nonsynonymous SNV P5512S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.107 179130 chr19 9071196 9071196 T G rs10416204 MUC16 Nonsynonymous SNV H5417P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 179131 chr9 130224638 130224638 G A rs529333601 LRSAM1 Nonsynonymous SNV V172I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 179132 chr19 9076159 9076159 G A rs150952426 MUC16 Nonsynonymous SNV L3763F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.189 179133 chr19 52658408 52658408 A G rs765460468 ZNF836 Nonsynonymous SNV F843S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 179134 chr11 65404238 65404238 C T rs748696303 PCNX3 Nonsynonymous SNV A1965V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 179135 chr19 9080543 9080543 G A rs114102907 MUC16 Nonsynonymous SNV T3163M 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.009 179136 chr19 9082386 9082386 T A rs28457686 MUC16 Synonymous SNV T3143T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 3.473 179137 chr19 9082466 9082483 GTGTGAAGGTTAACGTCT - rs150039749 MUC16 Q3111_T3116del 0.002 0 0.007 0 2 0 0 2 0 0 0 0 179138 chr19 9082514 9082514 C T rs17000871 MUC16 Nonsynonymous SNV A3101T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.144 179139 chr19 9082650 9082650 T G rs77653921 MUC16 Synonymous SNV L3055L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 5.7 179140 chr19 9082851 9082851 G A rs74801182 MUC16 Synonymous SNV A2988A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 3.084 179141 chr19 9083314 9083314 G A rs10407623 MUC16 Nonsynonymous SNV T2834M 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.007 179142 chr19 9083576 9083576 C T rs10402538 MUC16 Nonsynonymous SNV A2747T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 5.77 179143 chr19 9083790 9083790 C T rs10402994 MUC16 Synonymous SNV S2675S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 10.7 179144 chr19 9084197 9084197 T G rs28595701 MUC16 Nonsynonymous SNV T2540P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 8.053 179145 chr19 9084233 9084233 C T rs28703580 MUC16 Nonsynonymous SNV A2528T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 13.09 179146 chr19 9084481 9084481 C T rs28641623 MUC16 Nonsynonymous SNV G2445D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 1.203 179147 chr19 9084747 9084747 G C rs10416013 MUC16 Nonsynonymous SNV D2356E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.152 179148 chr17 79220453 79220453 C T rs376076845 SLC38A10 Nonsynonymous SNV G755R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 179149 chr19 9084807 9084807 T C rs10401312 MUC16 Synonymous SNV T2336T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.055 179150 chr19 9084953 9084953 C A rs10410933 MUC16 Nonsynonymous SNV V2288L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 2.773 179151 chr19 9086060 9086060 C T rs116412832 MUC16 Nonsynonymous SNV A1919T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 6.751 179152 chr19 9086064 9086064 A G rs115916681 MUC16 Synonymous SNV P1917P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.006 179153 chr19 9086269 9086269 T C rs77846926 MUC16 Nonsynonymous SNV H1849R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.069 179154 chr19 9086533 9086533 T C rs77183352 MUC16 Nonsynonymous SNV E1761G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.211 179155 chr19 9087008 9087008 C T rs149419361 MUC16 Nonsynonymous SNV A1603T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.126 179156 chr19 9088050 9088050 T G rs78027661 MUC16 Synonymous SNV A1255A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.04 179157 chr19 9088694 9088694 G A rs10406202 MUC16 Nonsynonymous SNV P1041S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.006 179158 chr19 9088721 9088721 A T rs10411228 MUC16 Nonsynonymous SNV S1032T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 0.005 179159 chr19 9089838 9089838 - GCC rs145226180 MUC16 A660_G661insA 0.002 0 0.007 0 2 0 0 2 0 0 0 0 179160 chr19 9090762 9090762 C A rs10415709 MUC16 Synonymous SNV G351G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 8.21 179161 chr19 9091772 9091772 G A rs74340378 MUC16 Nonsynonymous SNV R15C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 8.179 179162 chr17 79781327 79781327 C T rs142556466 MCRIP1 Nonsynonymous SNV E64K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 179163 chr7 73152003 73152003 C A rs143238178 ABHD11 Nonsynonymous SNV E117D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.63 179164 chr19 53411033 53411033 C T rs867357548 ZNF888 Nonsynonymous SNV C181Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.435 179165 chr19 9362136 9362136 C T rs142338839 OR7E24 Synonymous SNV D139D 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 11.04 179166 chr19 9449982 9449982 T G rs73920745 ZNF559 Nonsynonymous SNV N113K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 179167 chr19 54301594 54301594 G T rs104895570 NLRP12 Synonymous SNV R945R 0.011 0.005 0.01 0 13 2 0 3 0 0 0 0 Benign/Likely benign 5.905 179168 chr19 54313859 54313859 G A rs199881207 NLRP12 Nonsynonymous SNV R352C 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Uncertain significance 24.1 179169 chr19 9578345 9578345 G A rs144505939 ZNF560 Synonymous SNV H320H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.443 179170 chr19 9584995 9584995 C T rs145060906 ZNF560 Nonsynonymous SNV V13M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.185 179171 chr19 9868764 9868764 C G rs60387559 ZNF846 Nonsynonymous SNV R201P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 179172 chr14 95662855 95662855 G A rs771709586 CLMN Synonymous SNV S896S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.76 179173 chr1 100368269 100368269 G A rs11807956 AGL Nonsynonymous SNV A1207T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.1 179174 chr1 1026906 1026906 G A rs115833058 C1orf159 Synonymous SNV L6L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.897 179175 chr1 103412492 103412492 C T rs75915098 COL11A1 Synonymous SNV G947G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.01 179176 chr11 71804586 71804586 C A rs146300359 LRTOMT Nonsynonymous SNV R25S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.9 179177 chr1 108319884 108319884 C T rs34318889 VAV3 Nonsynonymous SNV D139N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 32 179178 chr1 109197351 109197351 T C rs9988420 HENMT1 Nonsynonymous SNV T129A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 179179 chr1 109268577 109268577 T - rs374590221 FNDC7 Stop gain Y354* 0 0 0.003 0 0 0 0 1 0 0 0 0 179180 chr1 109273351 109273351 C A rs76462144 FNDC7 Nonsynonymous SNV N560K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 32 179181 chr1 109650687 109650687 A G rs143273548 C1orf194 Synonymous SNV V16V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.929 179182 chr1 109735481 109735481 G A rs61756689 KIAA1324 Synonymous SNV G306G 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Benign 4.286 179183 chr1 109793182 109793182 A C rs113409073 CELSR2 Synonymous SNV R161R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 179184 chr11 74648036 74648036 G T rs202056915 XRRA1 Nonsynonymous SNV R58S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.022 179185 chr1 109824361 109824361 A C rs11800211 PSRC1 Synonymous SNV S133S 0.001 0 0.007 2 1 0 0.005 2 0 0 1 0 0.382 179186 chr11 75188704 75188704 C T rs375690546 GDPD5 Nonsynonymous SNV R26H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 30 179187 chr9 137716511 137716511 C T rs144672706 COL5A1 Synonymous SNV D1588D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 16.57 179188 chr1 110171966 110171966 C T rs116415979 AMPD2 Synonymous SNV S551S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.47 179189 chr1 110655510 110655510 C T rs61732287 UBL4B Synonymous SNV H118H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.48 179190 chr1 11087079 11087079 T C rs138855941 MASP2 Nonsynonymous SNV S642G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.259 179191 chr16 84050240 84050240 G A rs143103906 SLC38A8 Nonsynonymous SNV P349L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.83 179192 chr1 11106648 11106648 G A rs56392418 MASP2 Nonsynonymous SNV P126L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.7 179193 chr1 11107149 11107149 A G rs61735592 MASP2 Synonymous SNV C11C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.004 179194 chr1 111146013 111146013 A C rs115456625 KCNA2 Synonymous SNV G464G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.002 179195 chr9 139259644 139259644 C T rs138344913 CARD9 Synonymous SNV P461P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.921 179196 chr1 111854859 111854859 C T rs61752461 CHIA Nonsynonymous SNV R35W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.8 179197 chr1 112045709 112045709 G C rs77883500 ADORA3, TMIGD3 Nonsynonymous SNV L90V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.011 179198 chr1 10403332 10403332 A G KIF1B Synonymous SNV P1179P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.283 179199 chr1 112524974 112524974 C T rs2289723 KCND3 Synonymous SNV P125P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 11.68 179200 chr7 100279988 100279988 G A rs117477530 GIGYF1 Synonymous SNV C906C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.319 179201 chr15 40678571 40678571 A G KNSTRN Nonsynonymous SNV T105A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.82 179202 chr1 1141824 1141824 G C rs11466676 TNFRSF18 Nonsynonymous SNV T43R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.6 179203 chr9 139743895 139743895 G A rs139029614 PHPT1 Nonsynonymous SNV D5N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.551 179204 chr1 116245551 116245551 A G rs28730712 CASQ2 Synonymous SNV N335N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.588 179205 chr1 1164031 1164031 A G rs61744664 SDF4 Nonsynonymous SNV V48A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 179206 chr1 1164072 1164072 C T rs61745645 SDF4 Synonymous SNV A34A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 179207 chr1 1164090 1164090 T C rs61745652 SDF4 Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 179208 chr1 117617809 117617809 G C rs78991540 TTF2 Nonsynonymous SNV E201D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.151 179209 chr1 117637325 117637325 C T rs115372145 MIR942 0 0 0.007 0 0 0 0 2 0 0 0 0 6.008 179210 chr1 11766562 11766562 G A rs181265635 DRAXIN Nonsynonymous SNV A83T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.009 179211 chr1 1178244 1178244 G C rs74511182 C1QTNF12 Nonsynonymous SNV L261V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 179212 chr1 1178453 1178453 G A rs114921901 C1QTNF12 Synonymous SNV C240C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.79 179213 chr15 42115719 42115719 C T MAPKBP1 Synonymous SNV L1225L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.63 179214 chr1 11844424 11844424 G A rs7523653 C1orf167 Nonsynonymous SNV G1067R 0 0 0.007 0 0 0 0 2 0 0 0 0 18.12 179215 chr1 11848054 11848054 T C rs34733339 C1orf167 Synonymous SNV P1266P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.186 179216 chr1 11850749 11850749 C T rs45572531 MTHFR Synonymous SNV T694T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.22 179217 chr1 11876692 11876692 G A rs57044879 CLCN6 Synonymous SNV A56A 0 0 0.007 0 0 0 0 2 0 0 0 0 12.44 179218 chr1 11884586 11884586 G A rs60602304 CLCN6 Synonymous SNV S186S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.078 179219 chr1 120277963 120277963 G A rs777155018 PHGDH Nonsynonymous SNV R230H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 179220 chr1 120285574 120285574 G A PHGDH Nonsynonymous SNV V452I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.96 179221 chr1 120480583 120480583 G A rs7543643 NOTCH2 Synonymous SNV C1078C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 8.615 179222 chr1 120512303 120512303 G A rs7533978 NOTCH2 Synonymous SNV G313G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 9.668 179223 chr1 12164521 12164521 C T rs147117912 TNFRSF8 Synonymous SNV A7A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 179224 chr1 1219382 1219382 C G rs114582555 SCNN1D Nonsynonymous SNV Q126E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.693 179225 chr1 1221001 1221001 A G rs72896210 SCNN1D Nonsynonymous SNV Q172R 0.003 0.005 0.01 0 4 2 0 3 0 0 0 0 7.802 179226 chr1 12316393 12316393 G A rs12057307 VPS13D Nonsynonymous SNV A225T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 25.6 179227 chr1 12393335 12393335 G A rs28465686 VPS13D Synonymous SNV Q2780Q 0 0 0.01 0 0 0 0 3 0 0 0 0 8.475 179228 chr1 1245176 1245176 C T rs34738574 PUSL1 Nonsynonymous SNV R197W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.3 179229 chr1 114512753 114512753 C T rs371477847 HIPK1 Nonsynonymous SNV R589C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 179230 chr1 12726636 12726636 C T rs74057619 AADACL4 Synonymous SNV L372L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.497 179231 chr1 1277183 1277183 C T rs61735963 DVL1 Nonsynonymous SNV A157T 0 0 0.007 0 0 0 0 2 0 0 0 0 2.132 179232 chr7 100551625 100551625 A T rs200377024 MUC3A Nonsynonymous SNV I736L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.815 179233 chr1 12837497 12837497 C T rs144676239 PRAMEF12 Synonymous SNV L403L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.172 179234 chr1 1290408 1290408 A G rs147996767 MXRA8 Synonymous SNV A100A 0 0 0.01 0 0 0 0 3 0 0 1 0 0.285 179235 chr1 1309458 1309458 G A rs8146 AURKAIP1 Synonymous SNV H140H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.021 179236 chr1 1391208 1391208 T C rs116486541 ATAD3C Nonsynonymous SNV M159T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.994 179237 chr1 144921857 144921857 T G rs1324366 PDE4DIP Nonsynonymous SNV E554A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29 179238 chr1 145416584 145416584 C G rs7540883 HJV Nonsynonymous SNV A84G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.5 179239 chr1 145541460 145541460 C T rs61741868 ITGA10 Nonsynonymous SNV T940M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 179240 chr8 38194954 38194954 G T rs201510639 NSD3 Nonsynonymous SNV T260K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 179241 chr11 111739404 111739404 T C rs782251524 ALG9 Nonsynonymous SNV Y109C 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 20.6 179242 chr1 146585864 146585864 A G rs74119816 NBPF13P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.432 179243 chr1 146649653 146649653 - C rs139488888 PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 179244 chr1 146649817 146649817 C T rs140205308 PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 179245 chr19 58945016 58945016 A C ZNF132 Nonsynonymous SNV Y599D 0.003 0 0 0 4 0 0 0 0 0 0 0 25.6 179246 chr1 149901777 149901777 G A rs141272997 MTMR11 Nonsynonymous SNV S488F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 179247 chr8 42295064 42295064 C A rs774129042 SLC20A2 Synonymous SNV V322V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.565 179248 chr1 150997155 150997155 G A rs56805474 PRUNE1 Nonsynonymous SNV C135Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 21.6 179249 chr1 151107304 151107304 C G rs74127528 SEMA6C Nonsynonymous SNV R503T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 21.1 179250 chr1 151496718 151496718 C T rs16833336 CGN Nonsynonymous SNV R429C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 179251 chr1 151499468 151499468 T C rs142926464 CGN Nonsynonymous SNV M594T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 179252 chr15 50535405 50535405 T C rs149133008 HDC Nonsynonymous SNV R360G 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 24.4 179253 chr1 152287078 152287078 G A rs76438926 FLG Nonsynonymous SNV P95L 0 0 0.007 0 0 0 0 2 0 0 1 0 3.02 179254 chr1 152287213 152287213 T C rs115489580 FLG Nonsynonymous SNV D50G 0 0 0.007 0 0 0 0 2 0 0 1 0 22.4 179255 chr1 152382148 152382148 C T rs13374172 CRNN Synonymous SNV Q470Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 179256 chr8 59404935 59404935 G C rs142708991 CYP7A1 Nonsynonymous SNV P398A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.1 179257 chr1 152384630 152384630 G A rs35639220 CRNN Nonsynonymous SNV A27V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 179258 chr11 117059518 117059518 C T rs141563752 SIDT2 Synonymous SNV S418S 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 15.59 179259 chr1 1325846 1325846 C T rs747553554 CCNL2 Nonsynonymous SNV R64Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 179260 chr1 1333623 1333623 T C CCNL2 Nonsynonymous SNV R155G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 179261 chr1 144931491 144931491 G T PDE4DIP Nonsynonymous SNV A73E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.46 179262 chr1 152944389 152944389 G A rs73010454 SPRR4 Nonsynonymous SNV R8Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 179263 chr1 152944499 152944499 C T rs16834786 SPRR4 Nonsynonymous SNV P45S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.86 179264 chr1 152957808 152957808 C T rs17879194 SPRR1A Synonymous SNV I34I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.549 179265 chr1 152957859 152957859 C A rs1611763 SPRR1A Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 179266 chr1 145580236 145580236 C T rs781821974 PIAS3 Nonsynonymous SNV R240C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 179267 chr1 153362624 153362624 G A rs61731275 S100A8 Synonymous SNV G103G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.02 179268 chr1 153516358 153516358 G A rs1803244 S100A4 Synonymous SNV N61N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 9.861 179269 chr1 153640968 153640968 C T rs2229382 ILF2 Synonymous SNV L20L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 179270 chr1 153785916 153785916 G C rs114542403 GATAD2B Nonsynonymous SNV A410G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.7 179271 chr1 154209584 154209584 T C rs35699480 UBAP2L Synonymous SNV T225T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.813 179272 chr1 154295594 154295594 T C rs61739738 AQP10 Synonymous SNV H123H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.369 179273 chr1 154316023 154316023 C T rs114883665 ATP8B2 Synonymous SNV N598N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.411 179274 chr1 154898899 154898899 C T rs16836525 PMVK Nonsynonymous SNV V111M 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 6.341 179275 chr1 154920148 154920148 G A rs115797811 PBXIP1 Synonymous SNV P81P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.635 179276 chr1 154987946 154987946 C T rs761865206 ZBTB7B Synonymous SNV Y270Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.731 179277 chr1 155006140 155006140 C G rs745672147 DCST2 Nonsynonymous SNV G13A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179278 chr8 95142963 95142963 T C rs16916583 CDH17 Synonymous SNV T763T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.031 179279 chr1 155154491 155154491 C T rs111990855 TRIM46 Synonymous SNV D458D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 179280 chr1 155156306 155156306 C T rs114809126 TRIM46 Synonymous SNV A514A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 179281 chr8 95768354 95768354 C G rs73697017 DPY19L4 Synonymous SNV G234G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.75 179282 chr8 95782690 95782690 C T rs73697022 DPY19L4 Synonymous SNV L449L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.397 179283 chr10 34400149 34400149 G C rs144433754 PARD3 Nonsynonymous SNV A1228G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 179284 chr1 155255610 155255610 G T rs34218829 HCN3 Synonymous SNV L444L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 8.645 179285 chr18 9396524 9396524 C T rs34595349 TWSG1 Nonsynonymous SNV A157V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 23.1 179286 chr1 155629964 155629964 C T rs76776727 YY1AP1 Synonymous SNV A568A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.57 179287 chr1 155630462 155630462 T C rs182978 YY1AP1 Synonymous SNV K402K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 179288 chr8 97157307 97157307 G C rs74498875 GDF6 Synonymous SNV S284S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.996 179289 chr1 155735585 155735585 C T rs61748905 GON4L Nonsynonymous SNV V1227M 0 0 0.007 0 0 0 0 2 0 0 0 0 16.42 179290 chr8 97285617 97285617 T C rs11991068 PTDSS1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.57 179291 chr1 155735901 155735901 C T rs77977858 GON4L Synonymous SNV K1121K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.939 179292 chr1 155784173 155784173 C T rs76758809 GON4L Nonsynonymous SNV R410K 0 0 0.007 0 0 0 0 2 0 0 0 0 22.4 179293 chr1 155874156 155874156 G A rs34831194 RIT1 Synonymous SNV D89D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.52 179294 chr1 155899125 155899125 C T rs74571660 KHDC4 Synonymous SNV R142R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 179295 chr1 155912481 155912481 G T rs80044484 RXFP4 Synonymous SNV L327L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.546 179296 chr1 156146529 156146529 C T rs75447909 SEMA4A Nonsynonymous SNV A544V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21 179297 chr1 156212894 156212894 G A rs115631152 BGLAP Nonsynonymous SNV E82K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 179298 chr15 65863917 65863917 A G HACD3 Nonsynonymous SNV M269V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.64 179299 chr1 156509699 156509699 A T rs77494039 IQGAP3 Synonymous SNV G941G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.029 179300 chr1 156517967 156517967 A G rs34229589 IQGAP3 Synonymous SNV V734V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.361 179301 chr1 156518421 156518421 C T rs77834544 IQGAP3 Nonsynonymous SNV G649S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 179302 chr1 156526370 156526370 C T rs34789736 IQGAP3 Synonymous SNV S415S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 179303 chr1 156542294 156542294 A G rs60225867 IQGAP3 Nonsynonymous SNV W10R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.268 179304 chr1 156555819 156555819 A G rs12090808 TTC24 Nonsynonymous SNV N550S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.116 179305 chr1 153998176 153998176 C T rs201483933 NUP210L Nonsynonymous SNV V1322M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 179306 chr1 156617802 156617802 C G rs7526799 BCAN Synonymous SNV A223A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 179307 chr1 156815016 156815016 C T rs56127838 INSRR Synonymous SNV Q763Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.65 179308 chr1 156816408 156816408 G A rs201065454 INSRR Synonymous SNV Y571Y 0 0 0.007 0 0 0 0 2 0 0 0 0 7.819 179309 chr1 156821766 156821766 A G rs56179140 INSRR Synonymous SNV S285S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.012 179310 chr1 156821890 156821890 C T rs55951840 INSRR Nonsynonymous SNV R244H 0 0 0.003 0 0 0 0 1 0 0 0 0 21 179311 chr1 156838432 156838432 C T rs55909005 NTRK1 Nonsynonymous SNV T237M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19.35 179312 chr1 157068672 157068672 C T rs16838072 ETV3L Synonymous SNV K104K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.58 179313 chr1 157068968 157068968 T C rs61730131 ETV3L Synonymous SNV P87P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 2.749 179314 chr17 2236305 2236305 A G rs779654482 TSR1 Nonsynonymous SNV Y419H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.28 179315 chr17 2279099 2279101 AGG - rs572147937 SGSM2 E761del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 179316 chr1 15708652 15708652 A G rs191521494 FHAD1 Nonsynonymous SNV Q1362R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 179317 chr1 15736601 15736601 C T rs190806484 EFHD2 Nonsynonymous SNV A45V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.72 179318 chr1 158390574 158390574 A G rs141131451 OR10K2 Nonsynonymous SNV F28S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 179319 chr1 158585122 158585122 T G rs142775522 SPTA1 Nonsynonymous SNV E2224D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 179320 chr1 158589999 158589999 C A rs141823269 SPTA1 Synonymous SNV V2126V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.57 179321 chr1 158641199 158641199 T C rs34446973 SPTA1 Synonymous SNV A511A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.285 179322 chr1 156437999 156437999 C G rs558790210 MEF2D Nonsynonymous SNV R440P 0 0.003 0 0 0 1 0 0 0 0 0 0 33 179323 chr1 158736068 158736068 G A rs114295831 OR6N1 Synonymous SNV L135L 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 3.796 179324 chr1 156533436 156533436 C T rs139934499 IQGAP3 Synonymous SNV A176A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 19.72 179325 chr1 159779460 159779460 G A rs113926240 FCRL6 Synonymous SNV K291K 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 7.686 179326 chr1 159779464 159779464 T C rs115855950 FCRL6 Nonsynonymous SNV S293P 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 16.73 179327 chr1 159779465 159779465 C T rs116277008 FCRL6 Nonsynonymous SNV S293F 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 23.7 179328 chr1 159779985 159779985 G T rs73030822 FCRL6 Nonsynonymous SNV V330L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 4.075 179329 chr19 9453282 9453282 A G ZNF559 Synonymous SNV E449E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.547 179330 chr19 9453308 9453311 CTTC - ZNF559 S459Lfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 179331 chr1 15986365 15986365 T C rs35040685 RSC1A1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 179332 chr19 11464524 11464524 C A CCDC159 Nonsynonymous SNV A249D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.11 179333 chr19 11491596 11491596 A C rs200458897 EPOR Nonsynonymous SNV V264G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 179334 chr1 160063843 160063843 C T rs34290063 IGSF8 Synonymous SNV L187L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 179335 chr1 160208439 160208439 C T rs2275702 DCAF8 Synonymous SNV K274K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 17.42 179336 chr1 160208472 160208472 T C rs16831675 DCAF8 Synonymous SNV R263R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 5.078 179337 chr1 160249362 160249362 A G rs74125561 PEX19 Nonsynonymous SNV V276A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 3.603 179338 chr1 160265884 160265884 G A rs74125574 COPA Synonymous SNV S782S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.59 179339 chr1 160281729 160281729 A G rs74125578 COPA Synonymous SNV Y335Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.48 179340 chr1 160302298 160302298 T C rs57425682 COPA Nonsynonymous SNV T146A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.94 179341 chr1 16053651 16053651 C G rs61738983 PLEKHM2 Nonsynonymous SNV R362G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.018 179342 chr1 156909676 156909676 A G rs754683030 ARHGEF11 Nonsynonymous SNV W1214R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.35 179343 chr1 16071010 16071010 C T rs59905655 TMEM82 Nonsynonymous SNV S231L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 179344 chr1 160849161 160849161 G A rs35409502 ITLN1 Synonymous SNV N243N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.86 179345 chr1 160914917 160914917 G A rs6701920 LOC101928372 0 0 0.003 0 0 0 0 1 0 0 0 0 0.139 179346 chr1 16091593 16091593 C T rs34375304 FBLIM1 Nonsynonymous SNV R39C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.8 179347 chr1 160920414 160920414 C T rs75880837 ITLN2 Nonsynonymous SNV A177T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.274 179348 chr19 13428124 13428124 C T rs41276886 CACNA1A Nonsynonymous SNV A454T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 28.2 179349 chr1 162557405 162557405 G A rs61743748 UAP1 Synonymous SNV A325A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.15 179350 chr7 148801800 148801800 C A rs761388720 ZNF425 Nonsynonymous SNV C388F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.1 179351 chr1 16264116 16264116 C T rs57175033 SPEN Synonymous SNV P3495P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.22 179352 chr1 16460081 16460081 T A rs774304481 EPHA2 Nonsynonymous SNV T533S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 179353 chr15 85467271 85467271 T C rs139484056 SLC28A1 Nonsynonymous SNV V338A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 22.1 179354 chr8 142367260 142367260 G A GPR20 Nonsynonymous SNV T255M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 179355 chr1 16577948 16577948 G A rs61731119 FBXO42 Synonymous SNV D457D 0.003 0 0.003 0 3 0 0 1 1 0 0 0 1.058 179356 chr1 159033300 159033300 T G rs775750094 AIM2 Synonymous SNV T222T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.845 179357 chr1 16578017 16578017 G A rs148759078 FBXO42 Synonymous SNV D434D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.082 179358 chr1 16578134 16578134 T C rs61731120 FBXO42 Synonymous SNV V395V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.039 179359 chr1 110163805 110163805 C T rs763310916 AMPD2 Nonsynonymous SNV P26S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 24.1 179360 chr1 168073846 168073846 C G rs34558931 GPR161 Synonymous SNV L98L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 8.754 179361 chr1 168344829 168344829 C T rs78825966 MIR557 0 0 0.007 0 0 0 0 2 0 0 0 0 1.358 179362 chr1 159912790 159912790 G A rs573559309 IGSF9 Synonymous SNV F70F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.81 179363 chr1 159912920 159912920 A G rs529561372 IGSF9 Nonsynonymous SNV V27A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.014 179364 chr1 1690544 1690544 T C rs116344604 NADK Nonsynonymous SNV T191A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 179365 chr1 1690621 1690621 G A rs186603783 NADK Nonsynonymous SNV P165L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.33 179366 chr1 1691199 1691199 C T rs183152010 NADK Nonsynonymous SNV G136S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.782 179367 chr15 89056251 89056251 G A rs761116751 DET1 Synonymous SNV F528F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.46 179368 chr1 169513589 169513589 G A rs9332598 F5 Synonymous SNV T640T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 179369 chr1 169566265 169566265 A C rs2228672 SELP Nonsynonymous SNV S619A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.135 179370 chr10 75551825 75551825 C A rs762336991 ZSWIM8 Synonymous SNV R510R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.23 179371 chr1 109235298 109235298 - GCG rs771689970 PRPF38B G33_A34insG 0.002 0 0.003 0 2 0 0 1 0 0 0 0 179372 chr17 38519310 38519310 C G rs532965992 GJD3 Nonsynonymous SNV R253P 0.004 0.005 0.014 0 5 2 0 4 0 0 0 0 13.41 179373 chr1 169761863 169761863 G A rs16862686 METTL18 Nonsynonymous SNV A325V 0 0 0.007 0 0 0 0 2 0 0 0 0 19.05 179374 chr1 111860310 111860310 G A rs781282626 CHIA Nonsynonymous SNV R2H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.25 179375 chr1 171085385 171085385 T C rs79553697 FMO3 Synonymous SNV N344N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.389 179376 chr1 171116801 171116801 G A rs181949394 FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.95 179377 chr1 171130537 171130537 G C rs60402482 FMO6P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.84 179378 chr15 90145016 90145016 A G rs755164686 TICRR Synonymous SNV L791L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.955 179379 chr1 16255236 16255236 A G SPEN Nonsynonymous SNV Q834R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 179380 chr1 172422206 172422206 C A rs7532205 C1orf105 Stop gain C15X 0.004 0 0.01 0 5 0 0 3 0 0 0 0 8.129 179381 chr1 1724719 1724719 G A rs77027087 GNB1 Synonymous SNV D54D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.52 179382 chr10 88469801 88469801 C A rs139104492 LDB3 Nonsynonymous SNV Q346K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 179383 chr1 173476092 173476092 G T rs114102564 SLC9C2 Nonsynonymous SNV T1043N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 179384 chr1 173570818 173570818 G A rs77489322 SLC9C2 Nonsynonymous SNV T33M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 179385 chr1 110740918 110740918 A G rs41313405 SLC6A17 Nonsynonymous SNV K679R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 19.2 179386 chr1 173802608 173802608 A G rs35515638 DARS2 Nonsynonymous SNV K196R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 15.55 179387 chr1 173835501 173835501 T C rs9425427 SNORD77 0 0 0.01 0 0 0 0 3 0 0 0 0 16.28 179388 chr1 173835919 173835919 T A rs13476 GAS5 0 0 0.01 0 0 0 0 3 0 0 0 0 0.131 179389 chr1 174975972 174975972 A G rs1802325 CACYBP Synonymous SNV T66T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.311 179390 chr10 91465118 91465118 G A rs143432523 KIF20B Nonsynonymous SNV A23T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 179391 chr1 167082993 167082993 C T rs761274494 DUSP27 Nonsynonymous SNV P53S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 179392 chr1 175096179 175096179 C T rs56239270 TNN Synonymous SNV H1001H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.782 179393 chr8 3263701 3263701 T C rs771732847 CSMD1 Nonsynonymous SNV N705S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 179394 chr1 175335162 175335162 T C rs7516376 TNR Synonymous SNV P389P 0.003 0.01 0.007 1 3 4 0.003 2 0 0 0 0 4.601 179395 chr1 175372347 175372347 C T rs35736986 TNR Nonsynonymous SNV V4M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 179396 chr1 117556165 117556165 G A rs17235752 CD101 Nonsynonymous SNV A327T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 179397 chr1 17550185 17550185 G A rs144910180 PADI1 Nonsynonymous SNV V115I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.099 179398 chr1 111991329 111991329 G C rs377717184 WDR77 Synonymous SNV G71G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.975 179399 chr1 176709281 176709281 C A rs374184712 PAPPA2 Nonsynonymous SNV A1367D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 179400 chr1 17714943 17714943 C T rs74730094 PADI6 Synonymous SNV L249L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.308 179401 chr1 17714971 17714971 G A rs74834315 PADI6 Nonsynonymous SNV V259I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.274 179402 chr1 177902406 177902406 G A rs34329337 CRYZL2P-SEC16B, SEC16B Synonymous SNV P581P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.76 179403 chr1 178834231 178834231 T C rs6689778 ANGPTL1 Synonymous SNV Q227Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 179404 chr1 1226700 1226708 CTCCTGGAG - rs754760975 SCNN1D E712_L714del 0.004 0 0 0 5 0 0 0 0 0 0 0 179405 chr8 145748251 145748251 C T rs906030633 LRRC24 Nonsynonymous SNV G384S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.382 179406 chr1 181144563 181144563 A G rs58823535 LINC01732 0 0 0.007 0 0 0 0 2 0 0 0 0 0.293 179407 chr1 183111892 183111892 C T rs35216974 LAMC1 Synonymous SNV G1599G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 179408 chr1 183485079 183485079 A G rs146835507 SMG7 Synonymous SNV L2L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.842 179409 chr17 40321637 40321637 G A rs141736725 KCNH4 Nonsynonymous SNV S483L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 179410 chr1 177921119 177921119 G A rs112199919 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV T151M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.9 179411 chr17 40729267 40729267 C A rs139657728 PSMC3IP Nonsynonymous SNV K63N 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 34 179412 chr1 185987485 185987485 G A HMCN1 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 179413 chr1 177930833 177930833 G A rs73045027 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R227C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 25.1 179414 chr1 178063792 178063792 G T rs372896114 RASAL2 Nonsynonymous SNV E55D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.81 179415 chr1 178861405 178861405 G C RALGPS2 Nonsynonymous SNV A430P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.6 179416 chr17 41132080 41132080 C T rs374042386 PTGES3L, PTGES3L-AARSD1 Synonymous SNV A40A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 14.79 179417 chr1 19199400 19199400 G A rs72953172 ALDH4A1 Nonsynonymous SNV P493L 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 179418 chr10 102798404 102798404 G A rs538356053 SFXN3 Nonsynonymous SNV R263H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 179419 chr1 19215861 19215861 C T rs76762510 ALDH4A1 Nonsynonymous SNV V22M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.6 179420 chr1 1961564 1961564 C T rs116604393 GABRD Nonsynonymous SNV T401M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.317 179421 chr1 197586800 197586800 C T rs77063931 DENND1B Synonymous SNV L254L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.17 179422 chr1 197872001 197872001 G A rs73083807 C1orf53 Synonymous SNV A74A 0.002 0 0.003 0 2 0 0 1 1 0 0 0 12.13 179423 chr16 19194899 19194899 C T rs146673931 SYT17 Synonymous SNV I123I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 16.58 179424 chr1 19972466 19972466 C A rs185203446 NBL1 Nonsynonymous SNV Q8K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 179425 chr12 32729256 32729256 C A rs199744649 FGD4 Nonsynonymous SNV P101T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.15 179426 chr17 46134468 46134468 T C rs759894388 NFE2L1 Synonymous SNV F255F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.907 179427 chr1 200801337 200801337 C A rs74466658 CAMSAP2 Synonymous SNV R219R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 179428 chr1 200817285 200817285 A G rs57213993 CAMSAP2 Nonsynonymous SNV H447R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.167 179429 chr1 200817399 200817399 G A rs60174212 CAMSAP2 Nonsynonymous SNV C485Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179430 chr1 200818225 200818225 C G rs77774556 CAMSAP2 Synonymous SNV T760T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.012 179431 chr1 200823964 200823964 A T rs149864235 CAMSAP2 Synonymous SNV A1265A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.789 179432 chr19 24310542 24310542 C T rs116828150 ZNF254 Synonymous SNV G495G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.23 179433 chr1 201174312 201174312 C G rs61749969 IGFN1 Nonsynonymous SNV A340G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.96 179434 chr9 33466633 33466633 C T rs771587155 NOL6 Synonymous SNV G675G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 179435 chr19 31039357 31039357 C A rs61741995 ZNF536 Nonsynonymous SNV P944H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 1.03 179436 chr8 25317987 25317987 C T rs115875864 CDCA2 Nonsynonymous SNV T35I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.07 179437 chr1 201780786 201780786 T C rs74136675 NAV1 Nonsynonymous SNV I1224T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.213 179438 chr1 151109390 151109390 G A SEMA6C Nonsynonymous SNV P266L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 179439 chr9 37126524 37126524 G A rs553707003 ZCCHC7 Synonymous SNV S65S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.228 179440 chr10 116038581 116038581 G A rs750698718 VWA2 Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.304 179441 chr1 202794540 202794540 C G rs143218553 MGAT4EP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.329 179442 chr1 202795068 202795068 C T rs10800870 MGAT4EP 0 0 0.017 0 0 0 0 5 0 0 0 0 23.3 179443 chr1 202842899 202842899 G A rs115206610 LOC148709 0 0 0.01 0 0 0 0 3 0 0 1 0 5.871 179444 chr1 203098126 203098126 G A rs61731146 ADORA1 Nonsynonymous SNV V53M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.9 179445 chr1 155160529 155160529 A G MUC1 Nonsynonymous SNV I63T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 179446 chr1 155796689 155796689 G T rs774988834 GON4L Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.689 179447 chr1 203467840 203467840 C T rs747814 OPTC Synonymous SNV L134L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.83 179448 chr1 203677220 203677220 C T rs114362667 ATP2B4 Synonymous SNV T515T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.61 179449 chr1 203740550 203740550 C A rs78993747 LAX1 Synonymous SNV T69T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.92 179450 chr1 203743003 203743003 C A rs61734426 LAX1 Nonsynonymous SNV P115T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.989 179451 chr1 204103751 204103751 C G rs34175169 ETNK2 Nonsynonymous SNV E362D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.082 179452 chr1 204379752 204379752 T G rs146322981 PPP1R15B Nonsynonymous SNV D263A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.471 179453 chr17 49284337 49284337 G C MBTD1 Nonsynonymous SNV I172M 0 0.005 0 0 0 2 0 0 0 0 0 0 22.9 179454 chr1 20501498 20501501 ACCT - rs370008327 PLA2G2C S60Pfs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 179455 chr1 205128698 205128698 G A rs114762711 DSTYK Nonsynonymous SNV R739W 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 34 179456 chr1 205210672 205210672 G A rs756499348 TMCC2 Nonsynonymous SNV G5S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 179457 chr16 2980802 2980802 G A rs188049330 FLYWCH1 Synonymous SNV P239P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 6.756 179458 chr10 124591957 124591957 T C rs61730786 CUZD1 Nonsynonymous SNV H554R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 179459 chr19 36435854 36435854 G C LRFN3 Nonsynonymous SNV R607T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.16 179460 chr1 206329053 206329053 C A rs28548020 CTSE Nonsynonymous SNV P218T 0 0 0.007 0 0 0 0 2 0 0 1 0 24.4 179461 chr1 20639363 20639363 G A rs16823861 VWA5B1 Synonymous SNV T58T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 179462 chr17 5462417 5462417 C A rs112191372 NLRP1 Nonsynonymous SNV Q533H 0.003 0.003 0.01 5 3 1 0.013 3 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 179463 chr1 206651596 206651596 C T rs41296042 IKBKE Synonymous SNV T217T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.64 179464 chr8 54147665 54147666 TG - OPRK1 T88Kfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 179465 chr1 207107806 207107806 G A rs7542760 PIGR Nonsynonymous SNV T555I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 179466 chr12 52946689 52946689 T C rs148505146 KRT71 Nonsynonymous SNV N58S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 179467 chr1 158811956 158811956 T C MNDA Nonsynonymous SNV Y5H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 179468 chr9 91083288 91083288 G A rs61999324 SPIN1 Synonymous SNV A119A 0.008 0.008 0.007 3 9 3 0.008 2 0 0 0 0 10.55 179469 chr1 207198235 207198235 G A rs79235823 C1orf116 Nonsynonymous SNV R94W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 179470 chr1 207305069 207305069 A C rs6663608 C4BPA Synonymous SNV P356P 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.004 179471 chr1 209796341 209796341 G A rs59260335 LAMB3 Nonsynonymous SNV R848W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.5 179472 chr1 210194556 210194556 G A rs116593136 SYT14 Synonymous SNV S133S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.256 179473 chr1 21031265 21031265 C T rs34185675 KIF17 Synonymous SNV S266S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 8.559 179474 chr1 212799968 212799968 G A rs113135818 FAM71A Synonymous SNV P583P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.646 179475 chr1 213415378 213415378 G T rs34080597 RPS6KC1 Nonsynonymous SNV L388F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 179476 chr9 101536290 101536290 G T rs190075616 ANKS6 Nonsynonymous SNV P564T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 23.7 179477 chr1 215802247 215802247 C T rs111033435 USH2A Nonsynonymous SNV R5143H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25 179478 chr10 135106186 135106186 G A rs142117454 TUBGCP2 Nonsynonymous SNV S214L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 179479 chr9 102866904 102866904 T C INVS Nonsynonymous SNV I34T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 179480 chr1 21936700 21936700 G A rs139733672 RAP1GAP Synonymous SNV F368F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 179481 chr1 220325050 220325050 C G rs73098539 RAB3GAP2 Synonymous SNV T1308T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.595 179482 chr9 104500218 104500218 A G GRIN3A Nonsynonymous SNV L15P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 179483 chr12 56115652 56115652 G A rs755168439 RDH5 Nonsynonymous SNV V164I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.207 179484 chr1 167825433 167825433 T C rs151072898 ADCY10 Nonsynonymous SNV N561S 0.005 0 0 0 6 0 0 0 1 0 0 0 0.014 179485 chr1 221507261 221507261 C T rs12087664 C1orf140 0 0 0.007 0 0 0 0 2 0 0 0 0 6.382 179486 chr12 56647077 56647077 G A rs760596321 ANKRD52 Synonymous SNV T365T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.18 179487 chr1 169515747 169515747 C T F5 Synonymous SNV K565K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 179488 chr9 111775623 111775623 T - CTNNAL1 T34Lfs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 179489 chr9 112705383 112705383 A G rs41278411 PALM2AKAP2 Nonsynonymous SNV N273S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 179490 chr8 110397850 110397850 G C rs375054012 PKHD1L1 Nonsynonymous SNV R187T 0.009 0.005 0 0 11 2 0 0 0 0 0 0 26.2 179491 chr12 57865725 57865725 C T rs149870317 GLI1 Nonsynonymous SNV R940W 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 Likely benign 23.2 179492 chr8 113243806 113243806 T C rs774433724 CSMD3 Nonsynonymous SNV K3399R 0.005 0 0 0 6 0 0 0 0 0 0 0 22.7 179493 chr1 226027569 226027569 A G rs35561387 EPHX1 Synonymous SNV L254L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.032 179494 chr1 226032896 226032896 T C rs2234700 EPHX1 Synonymous SNV L406L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.007 179495 chr1 226924201 226924201 T G rs35957083 ITPKB Nonsynonymous SNV D320A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.31 179496 chr1 175372298 175372298 G A TNR Nonsynonymous SNV T20I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.583 179497 chr1 228399628 228399628 G A rs114375717 OBSCN Synonymous SNV Q48Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.124 179498 chr1 228412338 228412338 G A rs77489841 OBSCN Synonymous SNV T944T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.732 179499 chr1 228461055 228461055 T C rs113996842 OBSCN Synonymous SNV C2023C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.291 179500 chr1 179460807 179460807 G A rs201638557 AXDND1 Synonymous SNV A742A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.652 179501 chr1 167673915 167673915 C - rs780021094 RCSD1 Q358Rfs*14 0.002 0 0 0 2 0 0 0 0 0 0 0 179502 chr19 44116863 44116863 G A rs759026088 SRRM5 Nonsynonymous SNV R197H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 179503 chr1 180063526 180063526 T C rs148294536 CEP350 Synonymous SNV F2762F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.065 179504 chr16 67688533 67688533 G C CARMIL2 Nonsynonymous SNV A1174P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 179505 chr12 72666817 72666817 G A rs1023459638 TRHDE Nonsynonymous SNV G87S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.71 179506 chr1 222736623 222736623 C T rs146551189 TAF1A Nonsynonymous SNV R212H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.23 179507 chr1 228547736 228547736 C G rs747588877 OBSCN Synonymous SNV A6381A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.944 179508 chr1 228560181 228560181 G A rs62640372 OBSCN Synonymous SNV S7234S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.77 179509 chr1 228565325 228565325 C T rs61743077 OBSCN Synonymous SNV L7805L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.69 179510 chr1 228601506 228601506 C T rs116188608 TRIM17 Nonsynonymous SNV E173K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.238 179511 chr1 228612934 228612934 A G rs61740979 HIST3H3 Synonymous SNV P31P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 179512 chr1 228612994 228612994 T C rs61741017 HIST3H3 Synonymous SNV S11S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 179513 chr1 228699380 228699380 G A rs114659399 BTNL10 Synonymous SNV G93G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.803 179514 chr1 228786412 228786412 C G rs147500606 DUSP5P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.747 179515 chr1 22915788 22915788 C T rs111448114 EPHA8 Synonymous SNV D468D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.059 179516 chr17 7330254 7330254 G A rs371346612 SPEM2 Nonsynonymous SNV R315H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.503 179517 chr1 232144871 232144871 A G rs11122391 DISC1 Nonsynonymous SNV T795A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.518 179518 chr1 183816768 183816768 A G RGL1 Nonsynonymous SNV I67M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 179519 chr1 23415518 23415518 C T rs12066671 LUZP1 Nonsynonymous SNV S1034N 0.003 0 0.007 0 4 0 0 2 0 0 0 0 12.58 179520 chr1 172001571 172001571 C T rs375476448 DNM3 Synonymous SNV L207L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 179521 chr9 126135938 126135938 C T rs35578485 CRB2 Nonsynonymous SNV S1043F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.98 179522 chr1 234509334 234509334 G T rs113294015 COA6 Nonsynonymous SNV R41L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.842 179523 chr1 234509586 234509586 G A rs113627094 COA6 Nonsynonymous SNV S41N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.6 179524 chr1 185984285 185984295 TTGTAGTTCCA - rs568290303 HMCN1 I1544Tfs*2 0.003 0 0 0 4 0 0 0 0 0 0 0 179525 chr1 235600671 235600671 G C rs35579976 TBCE Nonsynonymous SNV S220T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.266 179526 chr1 235972734 235972734 G A rs77848653 LYST Nonsynonymous SNV P462S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.036 179527 chr19 4517619 4517619 G A rs774259750 PLIN4 Nonsynonymous SNV A48V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.837 179528 chr1 236734729 236734729 C T rs75511846 HEATR1 Synonymous SNV Q1290Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 179529 chr1 19564521 19564521 C T rs146431577 EMC1 Nonsynonymous SNV R379Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 23.2 179530 chr1 236918483 236918483 G A rs34975493 ACTN2 Synonymous SNV T713T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.85 179531 chr1 23756359 23756359 A G rs114806866 ASAP3 Nonsynonymous SNV L892S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.56 179532 chr11 1083231 1083231 C T rs774831539 MUC2 Nonsynonymous SNV R711C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 179533 chr1 238045834 238045834 G A rs34478438 ZP4 Nonsynonymous SNV S504L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.862 179534 chr1 238050743 238050743 G A rs151244337 ZP4 Synonymous SNV N224N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.254 179535 chr1 238050813 238050813 C T rs141095443 ZP4 Nonsynonymous SNV R201Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 179536 chr1 23842943 23842943 G A rs116576730 E2F2 Nonsynonymous SNV P310L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.705 179537 chr11 1093899 1093899 G C rs150480526 MUC2 Synonymous SNV L1906L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.031 179538 chr1 240255940 240255940 G A rs148480631 FMN2 Synonymous SNV S177S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.89 179539 chr1 197097722 197097722 C G ASPM Nonsynonymous SNV G945A 0.003 0 0 0 4 0 0 0 0 0 0 0 11.85 179540 chr1 240256761 240256761 T A rs145379416 FMN2 Nonsynonymous SNV L451Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.429 179541 chr19 46280721 46280721 G C rs142936719 DMPK Nonsynonymous SNV P248R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 179542 chr1 24113824 24113824 T C rs1046924 PITHD1 Synonymous SNV H198H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.724 179543 chr9 131231577 131231577 G A rs35903554 ODF2 Nonsynonymous SNV R166H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 7.63 179544 chr1 241663825 241663825 G A rs2070080 FH Synonymous SNV C434C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.85 179545 chr1 241676972 241676972 G A rs10926501 FH Synonymous SNV A103A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.32 179546 chr1 241798451 241798451 T G rs146199039 CHML Nonsynonymous SNV E206D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.143 179547 chr1 241920634 241920634 T C rs74150406 WDR64 Nonsynonymous SNV V607A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 179548 chr19 46522829 46522829 A G PGLYRP1 Nonsynonymous SNV W122R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 179549 chr1 24383873 24383873 T C rs59805085 MYOM3 Nonsynonymous SNV K1432R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 6.713 179550 chr11 1464579 1464579 C T rs368596722 BRSK2 Synonymous SNV D193D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.61 179551 chr1 24407903 24407903 C T rs12082295 MYOM3 Nonsynonymous SNV R775Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 179552 chr1 24421387 24421387 G A rs74061490 MYOM3 Nonsynonymous SNV S295L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 27.7 179553 chr9 133759510 133759510 C T rs748468624 ABL1 Synonymous SNV A611A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 179554 chr1 245862292 245862292 C T rs61734432 KIF26B Nonsynonymous SNV A2044V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 23.5 179555 chr1 246518360 246518360 G A rs11544849 SMYD3 Synonymous SNV V67V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.46 179556 chr1 201286772 201286772 G A rs142112484 PKP1 Nonsynonymous SNV A307T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 20.1 179557 chr1 246729173 246729173 C T rs150011053 TFB2M Nonsynonymous SNV G90R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.68 179558 chr1 24690698 24690698 G A rs151326764 GRHL3 Nonsynonymous SNV R573H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.848 179559 chr1 247053348 247053348 C T rs35004695 AHCTF1 Synonymous SNV Q688Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 179560 chr12 110890877 110890877 T C rs367859550 GPN3 Nonsynonymous SNV M312V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 179561 chr1 247163303 247163303 C T rs11807434 ZNF695 Nonsynonymous SNV R26Q 0.002 0.01 0.014 0 2 4 0 4 0 0 0 0 6.974 179562 chr12 111087997 111087997 G A rs377175325 HVCN1 Synonymous SNV H224H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 179563 chr1 247365286 247365287 GA - rs113974396 MIR3916 0 0 0.01 0 0 0 0 3 0 0 1 0 179564 chr1 247655365 247655365 G C rs74152606 OR2W5 Nonsynonymous SNV W312C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.078 179565 chr12 113346588 113346588 A G rs200753414 OAS1 Nonsynonymous SNV E143G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 179566 chr1 247695283 247695283 G C rs58515573 OR2C3 Nonsynonymous SNV H177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 179567 chr11 2909500 2909500 G A rs749889972 SLC22A18AS Synonymous SNV P121P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.172 179568 chr1 247978517 247978517 A G rs74152818 OR14A16 Nonsynonymous SNV V172A 0 0.005 0.01 0 0 2 0 3 0 1 1 0 23.4 179569 chr1 248059150 248059150 T C rs61748698 OR2W3 Nonsynonymous SNV C88R 0.001 0 0.007 0 1 0 0 2 0 0 1 0 9.701 179570 chr1 248059151 248059151 G A rs61748699 OR2W3 Nonsynonymous SNV C88Y 0.001 0 0.007 0 1 0 0 2 0 0 1 0 2.106 179571 chr1 248059602 248059602 C T rs61748719 OR2W3 Synonymous SNV F238F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.796 179572 chr16 85952186 85952186 C T rs759805702 IRF8 Synonymous SNV A51A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.08 179573 chr1 248112560 248112560 G A rs57818366 OR2L8 Nonsynonymous SNV R134H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.499 179574 chr1 248154119 248154119 T C rs150103231 OR2L1P 0 0 0.007 0 0 0 0 2 0 0 1 0 9.92 179575 chr1 248201884 248201884 T G rs142329532 OR2L2 Synonymous SNV T105T 0 0 0.007 0 0 0 0 2 0 0 1 0 1.942 179576 chr9 137293531 137293531 A C RXRA Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 179577 chr1 248263355 248263355 T C rs148192313 OR2L13 Synonymous SNV H226H 0 0 0.007 0 0 0 0 2 0 0 1 0 0.006 179578 chr1 248308748 248308748 A G rs140240725 OR2M5 Nonsynonymous SNV Q100R 0 0 0.007 0 0 0 0 2 0 0 1 0 23.9 179579 chr1 248512613 248512613 C T rs372326031 OR14C36 Synonymous SNV I179I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 179580 chr1 198201732 198201732 A C rs115665134 NEK7 Nonsynonymous SNV M8L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.145 179581 chr1 248569601 248569601 T C rs149877116 OR2T1 Synonymous SNV D102D 0 0 0.007 0 0 0 0 2 0 0 1 0 0.01 179582 chr1 206224827 206224827 G T rs113061513 AVPR1B Synonymous SNV T129T 0.006 0 0.007 0 7 0 0 2 0 0 0 0 Likely benign 4.037 179583 chr9 1057155 1057155 A G rs751821481 DMRT2 Nonsynonymous SNV K349R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 179584 chr9 138839708 138839708 C T rs118034043 UBAC1 Nonsynonymous SNV R126Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.876 179585 chr1 248685499 248685499 C T rs111664465 OR2G6 Synonymous SNV L184L 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 11.31 179586 chr1 200610349 200610349 A C rs181616119 DDX59 Nonsynonymous SNV I544M 0.003 0 0 0 3 0 0 0 0 0 0 0 1.109 179587 chr1 248844993 248844993 C G rs115155896 OR14I1 Nonsynonymous SNV V205L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.951 179588 chr1 245775170 245775170 C T rs568748700 KIF26B Nonsynonymous SNV R664C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 179589 chr1 25757607 25757607 C T rs114403991 MACO1 Synonymous SNV A6A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.06 179590 chr9 6421110 6421110 C G rs745801510 UHRF2 Nonsynonymous SNV R118G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 179591 chr1 26147079 26147079 C T rs75503083 LOC646471 0 0 0.003 0 0 0 0 1 0 0 0 0 8.23 179592 chr1 26153254 26153254 G A MTFR1L Nonsynonymous SNV E130K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 179593 chr1 26515307 26515307 C A rs75286440 CNKSR1 Nonsynonymous SNV Q586K 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 23 179594 chr1 26581981 26581981 G A rs34867486 CEP85 Synonymous SNV A125A 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 4.07 179595 chr1 26584144 26584144 C A rs34645806 CEP85 Synonymous SNV I269I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 179596 chr1 26620761 26620761 T C rs6695966 UBXN11 Nonsynonymous SNV E132G 0 0 0.007 0 0 0 0 2 0 0 1 0 22.8 179597 chr1 26672187 26672187 G A rs61996278 CRYBG2 Nonsynonymous SNV P321L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.351 179598 chr1 26672364 26672364 C T rs6678347 CRYBG2 Nonsynonymous SNV R262K 0 0 0.007 0 0 0 0 2 0 0 0 0 5.917 179599 chr1 26673138 26673138 - CCT rs141177722 CRYBG2 E3_A4insE 0 0 0.007 0 0 0 0 2 0 0 0 0 179600 chr1 27683180 27683180 T C rs55698627 MAP3K6 Nonsynonymous SNV Q1134R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.057 179601 chr1 27720967 27720967 G A rs734852 GPR3 Nonsynonymous SNV R222H 0 0 0.003 0 0 0 0 1 0 0 0 0 22 179602 chr1 212798697 212798697 C T rs201411958 FAM71A Nonsynonymous SNV R160W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.89 179603 chr9 24543332 24543332 C T IZUMO3 Nonsynonymous SNV M199I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 179604 chr1 29557390 29557390 A C rs200637441 MECR Nonsynonymous SNV V10G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.872 179605 chr12 131590338 131590338 C T rs762576989 ADGRD1 Synonymous SNV H605H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.08 179606 chr9 140201411 140201411 A G rs113731401 EXD3 Synonymous SNV S874S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.213 179607 chr9 32488107 32488107 T A DDX58 Nonsynonymous SNV I350F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 179608 chr12 132547096 132547096 - CAG EP400 Q2748_T2749insQ 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 179609 chr9 33261118 33261118 T A BAG1 Nonsynonymous SNV Q95H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 179610 chr1 32673512 32673512 T C rs36068145 IQCC Synonymous SNV D490D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179611 chr1 32676873 32676873 C T rs141330031 DCDC2B Synonymous SNV H89H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.196 179612 chr1 32682896 32682896 C A rs143824879 TMEM234 Nonsynonymous SNV V98F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 179613 chr1 32740393 32740393 C G rs147431889 LCK Nonsynonymous SNV S54C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.027 179614 chr9 140446851 140446851 C T rs756133646 MRPL41 Synonymous SNV D106D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 179615 chr1 33160510 33160510 C T rs397205 SYNC Nonsynonymous SNV A397T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.73 179616 chr17 9765381 9765381 C T rs775969089 GLP2R Stop gain R344X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 179617 chr9 140941383 140941383 G T rs201992929 CACNA1B Synonymous SNV V1147V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.82 179618 chr1 33557813 33557813 C T rs151245414 AZIN2 Nonsynonymous SNV P53S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 179619 chr1 33613273 33613273 C T rs76988009 TRIM62 Synonymous SNV S190S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 179620 chr1 33646899 33646899 C G rs544226616 TRIM62 Nonsynonymous SNV Q45H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.912 179621 chr1 248309188 248309188 G A rs767215624 OR2M5 Nonsynonymous SNV V247M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 179622 chr1 3386089 3386089 G A rs35754076 ARHGEF16 Synonymous SNV A318A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.101 179623 chr1 22179250 22179250 T G rs781565927 HSPG2 Nonsynonymous SNV T2224P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.718 179624 chr10 3176721 3176744 CTGCCAGAGCTATGGAGTGGATCA - PFKP R425_A432del 0.001 0 0 0 1 0 0 0 0 0 0 0 179625 chr9 35852906 35852906 G C rs759959256 TMEM8B Nonsynonymous SNV G301A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 179626 chr1 3409272 3409272 C T rs61746548 MEGF6 Nonsynonymous SNV A1483T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 179627 chr1 205897093 205897093 G A SLC26A9 Synonymous SNV V346V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.33 179628 chr1 3412521 3412521 C T rs61744111 MEGF6 Synonymous SNV A1268A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.95 179629 chr1 3431235 3431235 A C rs7543634 MEGF6 Synonymous SNV R244R 0.001 0 0.01 0 1 0 0 3 0 0 1 0 10.27 179630 chr1 34401453 34401453 A G rs16836099 CSMD2 Nonsynonymous SNV L207P 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 10.93 179631 chr1 34663143 34663143 C A rs61741816 C1orf94 Nonsynonymous SNV A213D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 179632 chr1 206858668 206858668 C G rs782064315 MAPKAPK2 Nonsynonymous SNV P32A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 179633 chr1 3519162 3519162 G A rs61737345 MEGF6 Nonsynonymous SNV P45L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.8 179634 chr1 35223027 35223027 C T rs61750010 GJB5 Synonymous SNV R32R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 179635 chr1 35447615 35447615 G A TMEM35B Nonsynonymous SNV A132V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 179636 chr1 35449447 35449447 C T rs114821631 TMEM35B Synonymous SNV L70L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 179637 chr1 35570043 35570043 G A rs77739907 ZMYM1 Synonymous SNV K114K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 179638 chr1 35578846 35578846 A G rs77513946 ZMYM1 Nonsynonymous SNV K397R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 179639 chr1 35580406 35580406 A G rs61736097 ZMYM1 Nonsynonymous SNV K917R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.4 179640 chr1 35921798 35921798 G C KIAA0319L Nonsynonymous SNV A491G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 179641 chr1 36074906 36074906 G A rs76784186 PSMB2 Nonsynonymous SNV A13V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 179642 chr1 208234104 208234104 C T rs762787986 PLXNA2 Nonsynonymous SNV E889K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 179643 chr1 36226120 36226120 C A rs61759479 CLSPN Nonsynonymous SNV D468Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.88 179644 chr1 3646621 3646621 C T rs139554277 TP73 Synonymous SNV H369H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.418 179645 chr1 224872504 224872504 C T rs974544458 CNIH3 Nonsynonymous SNV R59W 0.003 0 0 0 3 0 0 0 0 0 0 0 35 179646 chr1 36520615 36520615 G A rs79043007 AGO3 Synonymous SNV Q547Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.119 179647 chr1 36552447 36552447 G A rs35654839 TEKT2 Nonsynonymous SNV G211S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.3 179648 chr1 36557619 36557619 G A rs2236387 ADPRHL2 Nonsynonymous SNV E209K 0.004 0.003 0.014 1 5 1 0.003 4 0 0 0 0 12.05 179649 chr1 36565739 36565739 C T rs57985157 COL8A2 Synonymous SNV A35A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 14.46 179650 chr1 26158445 26158445 T A rs575578562 MTFR1L Synonymous SNV A269A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.33 179651 chr1 3761547 3761547 C A rs140856596 CEP104 Nonsynonymous SNV A164S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.052 179652 chr1 38411444 38411444 C T rs56993041 INPP5B Nonsynonymous SNV G46S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 15.09 179653 chr1 38464670 38464670 C T rs61732084 FHL3 Nonsynonymous SNV A103T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.2 179654 chr1 39339086 39339086 C G rs41270777 LOC105378663 0 0 0.003 0 0 0 0 1 0 0 0 0 7.159 179655 chr1 226111455 226111455 G A PYCR2 Synonymous SNV H28H 0.003 0 0 0 3 0 0 0 0 0 0 0 10.22 179656 chr1 39340419 39340419 G A rs61744044 GJA9 Nonsynonymous SNV T451I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.61 179657 chr11 6646889 6646889 G T rs774187564 DCHS1 Synonymous SNV V2267V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.978 179658 chr11 6654059 6654059 G A rs770204157 DCHS1 Nonsynonymous SNV P895L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 179659 chr13 31860919 31860919 G T rs370910355 B3GLCT Nonsynonymous SNV A343S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 2.431 179660 chr9 79438584 79438584 T C rs143897383 PRUNE2 Nonsynonymous SNV I240M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 179661 chr1 40768855 40768855 G A rs140697524 COL9A2 Synonymous SNV G517G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.44 179662 chr1 40773119 40773119 G T rs150075912 COL9A2 Nonsynonymous SNV A336E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.6 179663 chr13 32745156 32745156 A G FRY Nonsynonymous SNV I634V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.159 179664 chr1 40960959 40960959 C A rs142178729 ZFP69 Nonsynonymous SNV T271N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 179665 chr13 32913804 32913804 G A rs80358755 BRCA2 Nonsynonymous SNV G1771D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 2.714 179666 chr1 40980757 40980757 A G rs143807396 EXO5 Nonsynonymous SNV I181V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 179667 chr13 32971146 32971146 G C rs528504546 BRCA2 Nonsynonymous SNV A3205P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.34 179668 chr1 29609217 29609217 G A rs141378439 PTPRU Nonsynonymous SNV R633Q 0 0.01 0 0 0 4 0 0 0 0 0 0 23.1 179669 chr13 32971147 32971147 C T rs546682485 BRCA2 Nonsynonymous SNV A3205V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 13.15 179670 chr13 33270993 33270993 A G rs142410782 PDS5B Synonymous SNV T518T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.28 179671 chr18 31323136 31323136 T G rs77617474 ASXL3 Synonymous SNV A1108A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.01 179672 chr10 19413541 19413541 G A rs566658512 MALRD1 Synonymous SNV A295A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.11 179673 chr1 42865292 42865292 C T rs74068416 RIMKLA Synonymous SNV D127D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 179674 chr1 42922272 42922272 G A rs72950587 PPCS Synonymous SNV Q12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.554 179675 chr1 42922545 42922545 C A rs7524895 PPCS Synonymous SNV S103S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 179676 chr1 43022007 43022007 G A rs61729292 CCDC30 Synonymous SNV L202L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.529 179677 chr1 43212930 43212930 G C rs76628300 P3H1 Nonsynonymous SNV R690G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.11 179678 chr1 43223556 43223556 G A rs74070022 P3H1 Synonymous SNV T326T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.78 179679 chr1 43353604 43353604 G A rs12065587 LOC339539 0 0 0.007 0 0 0 0 2 0 0 1 0 7.756 179680 chr1 43394887 43394887 G A rs2229680 SLC2A1 Synonymous SNV V322V 0.005 0.003 0.003 0 6 1 0 1 1 0 0 0 Benign 9.611 179681 chr13 39266441 39266441 A C rs114595447 FREM2 Nonsynonymous SNV S1654R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.43 179682 chr1 229675329 229675329 A C rs778700542 ABCB10 Nonsynonymous SNV S405A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 179683 chr1 44684736 44684736 G A rs115178662 DMAP1 Synonymous SNV E243E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.367 179684 chr1 45223776 45223776 A G rs58350869 KIF2C Synonymous SNV E355E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 179685 chr1 45271914 45271914 C A rs17886308 TCTEX1D4 Nonsynonymous SNV D143Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.889 179686 chr1 45475278 45475278 G A rs61741088 HECTD3 Synonymous SNV H279H 0 0.003 0.01 0 0 1 0 3 0 0 1 0 6.906 179687 chr1 45792850 45792850 C T rs76095677 HPDL Synonymous SNV H10H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 179688 chr1 230928178 230928178 G A rs537600233 CAPN9 Nonsynonymous SNV G514S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.8 179689 chr1 45974471 45974471 A T rs74365027 MMACHC Nonsynonymous SNV I88L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 179690 chr1 46088993 46088993 G A rs116445969 CCDC17 Nonsynonymous SNV A130V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 179691 chr13 46093139 46093139 C T rs147147472 COG3 Synonymous SNV D688D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 179692 chr1 46657799 46657799 C T rs17102066 POMGNT1 Nonsynonymous SNV V482I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 179693 chr1 47276819 47276819 G A rs7513658 CYP4B1 Synonymous SNV K110K 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 11.45 179694 chr1 47280852 47280852 A C rs12094024 CYP4B1 Nonsynonymous SNV Y167S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 28.3 179695 chr1 47280927 47280927 T G rs17102592 CYP4B1 Nonsynonymous SNV F192C 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 22.4 179696 chr1 47427326 47427326 G A rs7543073 CYP4X1 Synonymous SNV R24R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.652 179697 chr1 47746113 47746113 T C rs140448154 STIL Nonsynonymous SNV S673G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 179698 chr1 47904422 47904422 G C rs148014613 FOXD2 Synonymous SNV P205P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.611 179699 chr1 47905121 47905121 A G rs199879374 FOXD2 Synonymous SNV P438P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179700 chr1 223905472 223905472 C T rs545615200 CAPN2 Synonymous SNV C4C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.24 179701 chr1 50885186 50885186 A G rs189260891 DMRTA2 Synonymous SNV G260G 0 0 0.007 0 0 0 0 2 0 0 0 0 15.66 179702 chr10 30316494 30316494 C T rs60366808 JCAD Synonymous SNV E861E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.669 179703 chr11 17096715 17096715 T C rs1059640 RPS13 Synonymous SNV L117L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.3 179704 chr1 52851599 52851599 C T rs3087483 ORC1 Nonsynonymous SNV C469Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.002 179705 chr18 53302954 53302954 A G TCF4 Nonsynonymous SNV F59L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.45 179706 chr1 52991387 52991387 G A rs116080636 TUT4 Nonsynonymous SNV T189I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 19.3 179707 chr11 17414556 17414556 G A rs73419228 ABCC8 Synonymous SNV F1576F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 16.56 179708 chr11 17434231 17434231 G A rs73423037 ABCC8 Synonymous SNV H846H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.441 179709 chr1 53580433 53580433 A T rs144354595 SLC1A7 Nonsynonymous SNV I143N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 179710 chr1 53742723 53742723 C T rs202155509 LRP8 Nonsynonymous SNV G175D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 179711 chr1 54059844 54059844 G A rs142216816 GLIS1 Synonymous SNV N244N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.563 179712 chr1 236762907 236762907 T C rs749283266 HEATR1 Nonsynonymous SNV Y126C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.6 179713 chr1 226253480 226253480 C T H3-3A Synonymous SNV R84R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.56 179714 chr1 54640328 54640328 G A rs61741270 CYB5RL Synonymous SNV C225C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 179715 chr1 55188437 55188437 C T rs62000412 TTC4 Nonsynonymous SNV L187F 0 0 0.003 0 0 0 0 1 0 0 0 0 30 179716 chr1 55272743 55272743 A G rs115158797 LEXM Nonsynonymous SNV Y60C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 179717 chr1 43692686 43692686 T C rs540417591 CFAP57 Synonymous SNV N966N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.408 179718 chr1 55529215 55529215 C A rs28362286 PCSK9 Stop gain C679X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 38 179719 chr1 59002319 59002319 A G rs17117702 OMA1 Synonymous SNV L199L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.63 179720 chr1 59004766 59004766 G T rs34466938 OMA1 Nonsynonymous SNV N67K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.6 179721 chr11 20968926 20968926 C T NELL1 Synonymous SNV N315N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 179722 chr1 5937162 5937162 C T rs17028857 NPHP4 Synonymous SNV T424T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.98 179723 chr1 5937246 5937246 C T rs114545322 NPHP4 Synonymous SNV S396S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.24 179724 chr1 60381612 60381612 T C rs2228113 CYP2J2 Nonsynonymous SNV N124S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 179725 chr1 60456435 60456435 G A rs34727266 C1orf87 Synonymous SNV S517S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 179726 chr1 45190867 45190867 C T ARMH1 Synonymous SNV A396A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.14 179727 chr1 45476719 45476719 G A rs375165079 HECTD3 Synonymous SNV L71L 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 0.55 179728 chr1 6278425 6278425 G A rs61746089 RNF207 Nonsynonymous SNV A577T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 179729 chr1 63070306 63070306 G A ANGPTL3 Nonsynonymous SNV G401S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 179730 chr1 47154144 47154144 G A rs373315968 EFCAB14 Nonsynonymous SNV L290F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.04 179731 chr1 63113968 63113968 T C rs61743961 DOCK7 Nonsynonymous SNV M181V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 0.384 179732 chr1 47279636 47279636 C T rs144659997 CYP4B1 Nonsynonymous SNV R63C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 179733 chr11 33065395 33065395 G A rs187732111 TCP11L1 Nonsynonymous SNV E26K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 179734 chr1 64732733 64732733 G A rs17126258 UBE2U Nonsynonymous SNV A220T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.16 179735 chr11 33628328 33628328 C T rs181932875 KIAA1549L Nonsynonymous SNV S1674L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 179736 chr1 6529187 6529187 C - rs201182604 PLEKHG5 E722Rfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 179737 chr1 6529190 6529191 CC - rs544570668 PLEKHG5 E721Gfs*64 0 0 0.003 0 0 0 0 1 0 0 0 0 179738 chr9 123688216 123688216 C T rs150753018 TRAF1 Synonymous SNV P46P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.37 179739 chr9 123716124 123716124 G A rs79033710 C5 Synonymous SNV D1601D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.534 179740 chr1 247979023 247979023 A T rs779896731 OR14A16 Nonsynonymous SNV N3K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 19.88 179741 chr1 6593365 6593365 G A rs35016990 NOL9 Synonymous SNV I404I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.07 179742 chr1 52825493 52825493 C T CC2D1B Nonsynonymous SNV D276N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.09 179743 chr10 53459074 53459074 C G rs758926910 CSTF2T Nonsynonymous SNV G79A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 179744 chr19 618517 618517 G A POLRMT Synonymous SNV H1131H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.041 179745 chr11 44331544 44331544 C G rs115968657 ALX4 Synonymous SNV P23P 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign 16.41 179746 chr1 70504781 70504781 C T rs12069888 LRRC7 Nonsynonymous SNV H1093Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 179747 chr1 70505143 70505143 T C rs116759529 LRRC7 Synonymous SNV D1213D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 179748 chr1 74507166 74507166 T G rs17094774 LRRIQ3 Nonsynonymous SNV L483F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.365 179749 chr1 74936519 74936519 T C rs143941686 LRRC53 Synonymous SNV T929T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 179750 chr1 74941235 74941235 C T rs76386264 LRRC53 Synonymous SNV S388S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 179751 chr1 75038963 75038963 C A rs75061423 ERICH3 Nonsynonymous SNV A811S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 179752 chr1 248185563 248185563 C A OR2L5 Nonsynonymous SNV T105N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 12.44 179753 chr1 7723991 7723991 G A rs139719679 CAMTA1 Nonsynonymous SNV E432K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 179754 chr1 78340668 78340668 T C rs77222879 MIGA1 Synonymous SNV D607D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.552 179755 chr17 38975103 38975103 - GTTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT KRT10 G565_H566insGYGGGSSSGGGYGGGSSSGGGYGGGNSSGG 0 0 0 1 0 0 0.003 0 0 0 0 0 179756 chr1 7889947 7889947 A G rs116369722 PER3 Synonymous SNV A979A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.19 179757 chr1 7902736 7902736 G C rs114915091 PER3 Nonsynonymous SNV C1185S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 22.5 179758 chr1 7998308 7998308 T C rs146308127 TNFRSF9 Synonymous SNV A97A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.402 179759 chr1 8074187 8074187 T G rs34974993 ERRFI1 Nonsynonymous SNV I158L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.34 179760 chr1 82456301 82456301 G A rs61741047 ADGRL2 Synonymous SNV T1228T 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign 0.12 179761 chr1 84348801 84348801 T C rs148381649 TTLL7 Nonsynonymous SNV I769M 0 0 0.003 0 0 0 0 1 0 0 0 0 14 179762 chr1 248551079 248551079 C A rs6693032 OR2T6 Nonsynonymous SNV T57N 0.005 0 0 3 6 0 0.008 0 1 0 0 0 25.4 179763 chr1 248551204 248551204 G A rs6683656 OR2T6 Nonsynonymous SNV A99T 0.005 0 0 3 6 0 0.008 0 1 0 0 0 3.191 179764 chr1 248551385 248551385 T C rs6701129 OR2T6 Nonsynonymous SNV L159P 0.005 0 0 3 6 0 0.008 0 1 0 0 0 23.3 179765 chr10 72293720 72293720 C G PALD1 Nonsynonymous SNV P305A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.09 179766 chr1 86920913 86920913 G A rs75217405 CLCA2 Synonymous SNV T845T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.949 179767 chr1 87100024 87100024 G A rs483249 CLCA3P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.264 179768 chr1 87194154 87194154 G A rs114816116 SH3GLB1 Synonymous SNV L213L 0 0 0.003 0 0 0 0 1 0 0 0 0 21 179769 chr1 87716294 87716294 C G rs115416646 LINC02801 Nonsynonymous SNV P45R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.478 179770 chr1 26510940 26510940 C A rs2297710 CNKSR1 Nonsynonymous SNV P357Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 18.67 179771 chr9 132630423 132630423 G A rs148425010 USP20 Nonsynonymous SNV S277N 0.003 0 0.01 0 3 0 0 3 0 0 0 0 23.2 179772 chr1 9009352 9009352 A T rs34265054 CA6 Nonsynonymous SNV Q37L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.002 179773 chr14 21992860 21992860 C T rs764920573 SALL2 Synonymous SNV G332G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.85 179774 chr1 90152146 90152146 C T rs10082200 LRRC8C Synonymous SNV I38I 0.001 0 0.007 0 1 0 0 2 0 0 1 0 18.52 179775 chr1 90178729 90178729 A G rs377187977 LRRC8C Synonymous SNV Q200Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.146 179776 chr9 133759686 133759686 A G rs61746126 ABL1 Nonsynonymous SNV N670S 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 10.05 179777 chr1 9101712 9101712 A T rs75852902 SLC2A5 Nonsynonymous SNV L235M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.14 179778 chr1 91406006 91406006 C T rs148111132 ZNF644 Nonsynonymous SNV R302H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 179779 chr1 916177 916179 TCC - rs565395227 PERM1 E77del 0 0 0.003 0 0 0 0 1 0 0 0 0 179780 chr1 27276604 27276604 C T rs200294153 KDF1 Nonsynonymous SNV D385N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 29 179781 chr1 92645934 92645934 G A rs17131606 KIAA1107 Synonymous SNV K385K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.838 179782 chr1 92645953 92645953 G C rs7552286 KIAA1107 Nonsynonymous SNV V392L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.78 179783 chr1 92789381 92789381 A G RPAP2 Nonsynonymous SNV N302D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 179784 chr1 9307075 9307075 C T rs36094664 H6PD Synonymous SNV D237D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.53 179785 chr1 9322299 9322299 C T rs61745592 H6PD Synonymous SNV V320V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.31 179786 chr1 94342202 94342202 G A rs35650636 DNTTIP2 Nonsynonymous SNV A430V 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 0.232 179787 chr1 94506819 94506819 G A rs113698006 ABCA4 Synonymous SNV Y1156Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.024 179788 chr1 95428611 95428611 G A rs74101925 LOC729970 0 0 0.007 0 0 0 0 2 0 0 0 0 5.079 179789 chr1 96488337 96488337 C T rs74105815 LINC02790 0 0 0.007 0 0 0 0 2 0 0 0 0 2.173 179790 chr14 24114481 24114481 C T rs370916025 DHRS2 Synonymous SNV C291C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 179791 chr1 978747 978747 G A rs147081710 AGRN Nonsynonymous SNV D505N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 179792 chr9 135759393 135759393 A T rs746675631 SPACA9 Nonsynonymous SNV Q20L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 179793 chr20 10019244 10019244 A G rs114094702 ANKEF1 Nonsynonymous SNV I99V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.656 179794 chr9 136310143 136310143 C T rs147112200 ADAMTS13 Synonymous SNV V860V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 179795 chr20 11899175 11899175 C A rs142502423 BTBD3 Nonsynonymous SNV H84Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 179796 chr20 13797179 13797179 G A rs34901599 NDUFAF5 Synonymous SNV A255A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 6.176 179797 chr11 56143203 56143205 ACC - OR8U1, OR8U8 Y35_L36delinsF 0.001 0 0 0 1 0 0 0 0 0 0 0 179798 chr11 56143207 56143207 C - OR8U1, OR8U8 F37Sfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 179799 chr20 14308144 14308144 G A rs757745391 FLRT3 Synonymous SNV S3S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 179800 chr20 1434888 1434888 T C rs8119357 NSFL1C Synonymous SNV A169A 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 8.86 179801 chr20 1460491 1460491 G A rs61732303 SIRPB2 Nonsynonymous SNV T102I 0 0.003 0.014 1 0 1 0.003 4 0 0 0 0 23.4 179802 chr1 85648570 85648570 C G rs545541943 SYDE2 Nonsynonymous SNV K585N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.24 179803 chr20 16354943 16354943 G A rs142085155 KIF16B Synonymous SNV V1103V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.821 179804 chr20 17600322 17600322 C T rs76574491 RRBP1 Nonsynonymous SNV A1211T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 179805 chr20 17617342 17617342 G A rs6034872 RRBP1 Synonymous SNV A739A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.77 179806 chr20 17640524 17640524 T C rs75727664 RRBP1 Nonsynonymous SNV K210R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.718 179807 chr20 17640898 17640898 A T rs112815474 RRBP1 Nonsynonymous SNV D85E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 179808 chr10 98088558 98088558 C T rs769662265 DNTT Stop gain Q362X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 179809 chr17 4389731 4389731 C T rs747755316 SPNS3 Nonsynonymous SNV R308C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 179810 chr20 20563725 20563725 T C rs191604055 RALGAPA2 Synonymous SNV Q892Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.175 179811 chr20 20571940 20571940 T A rs114385605 RALGAPA2 Nonsynonymous SNV Q741L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.482 179812 chr17 4621273 4621273 C T rs146732997 ARRB2 Synonymous SNV L177L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.7 179813 chr20 23065496 23065496 T C CD93 Nonsynonymous SNV N445S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 179814 chr20 23586497 23586497 G A rs75204380 CST9 Nonsynonymous SNV S2L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 179815 chr20 23860243 23860243 G A rs145031249 CST5 Nonsynonymous SNV S24L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.072 179816 chr1 100366337 100366337 A G AGL Nonsynonymous SNV N1170D 0.003 0 0 0 4 0 0 0 0 0 0 0 8.119 179817 chr20 239881 239881 C T rs73570481 DEFB132 Synonymous SNV H74H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.599 179818 chr1 94463425 94463425 G C rs61748521 ABCA4 Nonsynonymous SNV L2241V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 26 179819 chr20 2577828 2577828 G A rs141012167 TMC2 Nonsynonymous SNV E370K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 179820 chr14 52505544 52505544 C A rs779837838 NID2 Synonymous SNV V726V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.68 179821 chr9 140343886 140343886 C T rs573424993 NSMF Nonsynonymous SNV R493H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 179822 chr20 2688604 2688604 T C rs114850083 EBF4 Synonymous SNV Y138Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.474 179823 chr1 94645368 94645368 C T rs41311172 ARHGAP29 Nonsynonymous SNV R734Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.1 179824 chr20 30408160 30408160 C A rs121908108 MYLK2 Nonsynonymous SNV A95E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 24.1 179825 chr20 30409276 30409276 G A rs145656924 MYLK2 Nonsynonymous SNV E170K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.9 179826 chr20 30419539 30419539 T C rs111888319 MYLK2 Synonymous SNV D486D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.462 179827 chr20 30510779 30510779 C G rs192604547 TTLL9 Nonsynonymous SNV S83C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 179828 chr20 31624252 31624252 C A rs151289682 BPIFB6 Nonsynonymous SNV D193E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.31 179829 chr20 31671318 31671318 T C rs144729538 BPIFB4 Synonymous SNV Y105Y 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.003 179830 chr1 110032669 110032669 G C rs1041670119 ATXN7L2 Nonsynonymous SNV E417D 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.4 179831 chr10 113935368 113935368 T C GPAM Nonsynonymous SNV N135D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 179832 chr20 1552666 1552666 C T rs1008776803 SIRPB1 Nonsynonymous SNV V151M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.016 179833 chr20 3193872 3193872 C T rs142574480 ITPA Synonymous SNV L42L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.02 179834 chr20 3211845 3211845 C T rs112163941 SLC4A11 Nonsynonymous SNV R347Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.1 179835 chr20 33330548 33330548 G A rs61730987 NCOA6 Nonsynonymous SNV S1171L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.28 179836 chr20 33447314 33447314 C T rs61319953 GGT7 Nonsynonymous SNV V316I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.515 179837 chr10 116048897 116048897 C T rs200171942 VWA2 Nonsynonymous SNV R591W 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.7 179838 chr19 1990753 1990753 G A rs146922665 BTBD2 Synonymous SNV D251D 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 2.091 179839 chr20 33588874 33588874 G A rs76931580 MYH7B Synonymous SNV T1838T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.21 179840 chr1 111969065 111969065 T C OVGP1 Nonsynonymous SNV K85R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 179841 chr20 33706509 33706509 G A rs3192415 EDEM2, MMP24-AS1-EDEM2 Synonymous SNV S339S 0 0 0.01 0 0 0 0 3 0 0 0 0 14.02 179842 chr20 33981987 33981987 T C rs78363605 UQCC1 Nonsynonymous SNV S13G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.4 179843 chr20 34022561 34022561 T G rs116467702 GDF5 Synonymous SNV R218R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.2 179844 chr20 34025360 34025360 C A rs151149144 GDF5 Nonsynonymous SNV A117S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.307 179845 chr10 118618510 118618510 C T rs995718247 ENO4 Synonymous SNV F165F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.36 179846 chr20 34117196 34117196 G A rs78324737 C20orf173 Nonsynonymous SNV R3C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 179847 chr20 34144749 34144749 G A rs76270188 ERGIC3 Synonymous SNV L295L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.42 179848 chr10 13325816 13325816 G A rs547226475 PHYH Synonymous SNV H146H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.346 179849 chr20 34146726 34146726 - AGC rs139315990 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 179850 chr20 34146742 34146742 G A rs116305880 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 8.433 179851 chr20 34146754 34146754 C T rs79693337 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 9.842 179852 chr20 34146802 34146802 T C rs115227448 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 8.898 179853 chr20 34146950 34146950 T C rs78897011 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 179854 chr20 34147136 34147136 A G rs78913502 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 8.503 179855 chr20 34147380 34147380 G A rs114972671 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 179856 chr20 34148091 34148091 C T rs61742206 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 179857 chr14 68126523 68126523 G A VTI1B Synonymous SNV S97S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 179858 chr20 34167255 34167255 G A rs116559455 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 9.057 179859 chr20 34167320 34167320 C T rs74778259 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 179860 chr20 34170933 34170933 C G rs559780993 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 179861 chr20 34188123 34188123 T G rs554335184 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 179862 chr20 34191202 34191202 C T rs78549793 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 179863 chr20 34204168 34204168 G A rs115161777 SPAG4 Nonsynonymous SNV A11T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.33 179864 chr20 34205080 34205080 C T rs116016997 SPAG4 Synonymous SNV V32V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.19 179865 chr20 34241530 34241530 T C rs17092928 RBM12 Nonsynonymous SNV N572S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.487 179866 chr20 34782156 34782156 G A rs111865221 EPB41L1 Synonymous SNV S379S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 6.513 179867 chr14 70634850 70634850 C T rs766048508 SLC8A3 Nonsynonymous SNV R97H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.8 179868 chr20 35061030 35061030 G A rs140800171 DLGAP4 Nonsynonymous SNV E304K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 179869 chr20 35176541 35176541 G A rs11553089 MYL9 Synonymous SNV T97T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 179870 chr20 35242745 35242745 C T rs34834764 SLA2 Nonsynonymous SNV V210M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.8 179871 chr20 35443751 35443751 G A rs143905951 SOGA1 Synonymous SNV P698P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.236 179872 chr11 62299492 62299492 C A rs139862534 AHNAK Synonymous SNV G799G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 179873 chr20 36560072 36560072 C T rs150114807 VSTM2L Nonsynonymous SNV R53W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 179874 chr1 1168240 1168240 G T rs532162467 B3GALT6 Synonymous SNV P194P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.217 179875 chr20 3670646 3670646 C T rs8115679 SIGLEC1 Synonymous SNV L1619L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 12.89 179876 chr14 73964965 73964965 G A rs759352397 HEATR4 Nonsynonymous SNV R814W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 179877 chr20 3679943 3679943 C T rs73583085 SIGLEC1 Synonymous SNV A564A 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 16.65 179878 chr20 3686676 3686676 C G rs35953127 SIGLEC1 Nonsynonymous SNV V141L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.463 179879 chr20 36946847 36946847 C T rs151215961 BPI Synonymous SNV S215S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 179880 chr20 36956019 36956019 C T rs5743527 BPI Synonymous SNV A401A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 179881 chr20 37214697 37214697 G A rs73905648 ADIG Synonymous SNV V50V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.927 179882 chr20 3721485 3721485 G C rs34414870 HSPA12B Nonsynonymous SNV V23L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.7 179883 chr11 63885094 63885094 G A rs150825004 FLRT1 Nonsynonymous SNV R452H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.22 179884 chr20 37252005 37252005 T G rs79146063 ARHGAP40 Synonymous SNV S47S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.19 179885 chr20 37258196 37258196 A G rs78190665 ARHGAP40 Nonsynonymous SNV N228S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.323 179886 chr20 37263408 37263408 C T rs78673969 ARHGAP40 Nonsynonymous SNV A309V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 179887 chr20 3765542 3765544 TCG - rs762442876 CENPB D532del 0 0 0.003 0 0 0 0 1 0 0 0 0 179888 chr20 40049424 40049424 C T rs61752058 CHD6 Nonsynonymous SNV E1951K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 179889 chr20 40827934 40827934 C T rs61749502 PTPRT Nonsynonymous SNV A813T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.974 179890 chr11 64111822 64111822 T C rs370467398 CCDC88B Synonymous SNV S603S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 179891 chr20 2968737 2968737 G A rs144422736 PTPRA Nonsynonymous SNV R187H 0 0.005 0 0 0 2 0 0 0 0 0 0 31 179892 chr20 30449377 30449377 G C DUSP15 Synonymous SNV S76S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.5 179893 chr11 64606167 64606167 T G rs55688429 CDC42BPG Nonsynonymous SNV T362P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 179894 chr20 43723569 43723569 T C rs7264544 KCNS1 Nonsynonymous SNV Q508R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.206 179895 chr20 43837008 43837008 G A rs61730001 SEMG1 Nonsynonymous SNV R357Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 179896 chr20 43922571 43922571 - C MATN4 Frameshift insertion A473Gfs*79 0 0 0.003 0 0 0 0 1 0 0 0 0 179897 chr20 43922637 43922637 C T rs79708482 MATN4 Nonsynonymous SNV G451E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 179898 chr20 31497630 31497630 G A rs1010881787 EFCAB8 Nonsynonymous SNV G484R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.31 179899 chr20 43929567 43929567 G A rs2233099 MATN4 Synonymous SNV P242P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.22 179900 chr19 33444556 33444556 T C rs73579706 CEP89 Nonsynonymous SNV S153G 0.002 0.005 0.02 0 2 2 0 6 0 0 0 0 0.001 179901 chr20 43933399 43933399 C G rs114313957 MATN4 Nonsynonymous SNV V38L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 179902 chr20 43936836 43936836 G C rs115744323 RBPJL Nonsynonymous SNV E26Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 179903 chr11 64882479 64882479 T C TM7SF2 Nonsynonymous SNV L273P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 179904 chr20 31647753 31647753 C T BPIFB3 Nonsynonymous SNV A148V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 179905 chr20 43945423 43945423 G C rs61754060 RBPJL Nonsynonymous SNV G463A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 179906 chr20 44003790 44003790 G T rs2231622 TP53TG5 Nonsynonymous SNV H219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 179907 chr19 34895647 34895647 G A rs141960904 PDCD2L Nonsynonymous SNV G68S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.1 179908 chr20 44519373 44519373 G A rs147644955 NEURL2 Synonymous SNV T86T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.694 179909 chr1 67147740 67147740 T G rs751942095 SGIP1 Nonsynonymous SNV S339A 0.003 0 0 0 3 0 0 0 0 0 0 0 17.72 179910 chr19 35422840 35422840 C T rs757120244 ZNF30 Stop gain Q35X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 179911 chr20 44642532 44642532 T C rs3918260 SLC12A5-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.573 179912 chr17 7125326 7125326 C A rs372114185 ACADVL Synonymous SNV A204A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.72 179913 chr14 88945555 88945555 G C rs772065777 PTPN21 Synonymous SNV A740A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.272 179914 chr20 45358121 45358121 A G rs41283344 SLC2A10 Nonsynonymous SNV K514R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.46 179915 chr20 45717928 45717928 A G rs866936 EYA2 Nonsynonymous SNV T238A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.491 179916 chr20 45947426 45947426 C T rs74639709 LOC100131496 0 0 0.007 0 0 0 0 2 0 0 0 0 2.906 179917 chr1 53443901 53443901 T C rs80033039 SCP2 Synonymous SNV D185D 0.006 0.008 0 0 7 3 0 0 0 0 0 0 Benign/Likely benign 4.629 179918 chr20 4713174 4713174 G C rs7270737 PRNT 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.001 179919 chr20 48098820 48098820 G A rs520282 KCNB1 Synonymous SNV H66H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.171 179920 chr20 48140696 48140696 G A rs145783271 PTGIS Nonsynonymous SNV R252W 0 0 0.003 0 0 0 0 1 0 0 0 0 25 179921 chr14 92537387 92537387 T G rs12896588 ATXN3 Nonsynonymous SNV K12T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.059 179922 chr14 92537388 92537388 T C rs12896589 ATXN3 Nonsynonymous SNV K12E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.007 179923 chr14 92537396 92537396 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC ATXN3 Frameshift insertion T9Sfs*54 0 0 0 1 0 0 0.003 0 0 0 0 0 179924 chr1 150444968 150444968 C T rs764057013 RPRD2 Nonsynonymous SNV R1156C 0.003 0 0 0 4 0 0 0 0 0 0 0 28.6 179925 chr20 52192789 52192789 T C rs6097490 ZNF217 Synonymous SNV Q838Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.037 179926 chr20 52193722 52193722 G A rs34614052 ZNF217 Synonymous SNV T527T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.564 179927 chr20 52609166 52609166 A G rs61731749 BCAS1 Nonsynonymous SNV V316A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.3 179928 chr1 55247118 55247118 C T TTC22 Nonsynonymous SNV R503H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 179929 chr20 52773736 52773736 G A rs61730999 CYP24A1 Synonymous SNV I443I 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 9.842 179930 chr11 67203392 67203392 C T rs369544699 PTPRCAP Nonsynonymous SNV V145M 0.003 0 0 0 3 0 0 0 0 0 0 0 19.85 179931 chr20 39986074 39986074 C T rs776151215 LPIN3 Nonsynonymous SNV H677Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 179932 chr1 151210730 151210730 A G rs745706973 PIP5K1A Synonymous SNV L393L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.612 179933 chr20 55206615 55206615 G A rs76833551 TFAP2C Nonsynonymous SNV A135T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.478 179934 chr11 67290014 67290014 T A CABP2 Nonsynonymous SNV Y77F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.74 179935 chr20 55929860 55929860 A G rs35413125 RAE1 Synonymous SNV S61S 0 0 0.007 0 0 0 0 2 0 0 0 0 10.85 179936 chr10 50833676 50833676 G A rs116362950 CHAT Nonsynonymous SNV V186I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 179937 chr20 56098746 56098746 G A rs11907063 CTCFL Synonymous SNV S172S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.524 179938 chr14 95560444 95560444 G A rs139500905 DICER1 Synonymous SNV L1715L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign/Likely benign 11.22 179939 chr11 558232 558232 C T rs117038322 LMNTD2 Nonsynonymous SNV E110K 0.003 0 0.007 0 3 0 0 2 0 0 0 0 12.12 179940 chr20 56823258 56823258 C T rs6015233 PPP4R1L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 179941 chr20 57266532 57266532 T C rs76779313 STX16-NPEPL1 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 179942 chr20 58571064 58571064 G T rs194998 CDH26 Nonsynonymous SNV V615L 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.002 179943 chr20 5903141 5903141 G C rs236150 CHGB Nonsynonymous SNV K117N 0 0.003 0.014 0 0 1 0 4 0 0 0 0 3.064 179944 chr1 153946513 153946513 G A rs137901554 CREB3L4 Nonsynonymous SNV R387Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 179945 chr11 72945799 72945799 A G rs141776297 P2RY2 Nonsynonymous SNV S199G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 179946 chr11 72983293 72983293 G C rs559498386 P2RY6 Synonymous SNV S17S 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 2.481 179947 chr1 15438838 15438839 TG - TMEM51-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 179948 chr20 60794781 60794781 G A rs114303636 HRH3 Synonymous SNV L82L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 13.01 179949 chr1 155160270 155160270 C A rs1611770 MUC1 Nonsynonymous SNV V100L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.4 179950 chr20 6096609 6096609 G A rs57272794 FERMT1 Synonymous SNV D78D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.621 179951 chr20 60989098 60989098 C T rs35290016 RBBP8NL Nonsynonymous SNV A437T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 179952 chr20 61386147 61386147 A C rs35373650 NTSR1 Nonsynonymous SNV Q275H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.797 179953 chr20 61386225 61386225 C T rs34864360 NTSR1 Synonymous SNV G301G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.44 179954 chr20 61451305 61451305 C T rs35908728 COL9A3 Nonsynonymous SNV P94S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.6 179955 chr1 155911517 155911517 C A rs76232257 RXFP4 Nonsynonymous SNV T6N 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 9.451 179956 chr20 61952385 61952385 C G rs115782548 COL20A1 Synonymous SNV P1058P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.879 179957 chr10 73472494 73472494 A G rs41281310 CDH23 Nonsynonymous SNV N1098S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26.7 179958 chr20 62173587 62173587 C T rs61740190 SRMS Nonsynonymous SNV C292Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 179959 chr10 73499446 73499446 A G rs200635365 CDH23 Nonsynonymous SNV I1469V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 23.1 179960 chr20 62194528 62194528 G A rs61741527 HELZ2 Synonymous SNV L1314L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.867 179961 chr20 62195910 62195910 C T rs61742353 HELZ2 Nonsynonymous SNV R853Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.613 179962 chr20 62196350 62196350 G C rs61741972 HELZ2 Synonymous SNV G706G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.34 179963 chr20 62199937 62199937 C T rs61741406 HELZ2 Nonsynonymous SNV A502T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.311 179964 chr20 62201007 62201007 T C rs61742652 HELZ2 Synonymous SNV L194L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 179965 chr20 62305313 62305313 G A rs6011020 RTEL1 Synonymous SNV S39S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 5.962 179966 chr20 62305406 62305406 T C rs6010616 RTEL1 Synonymous SNV G70G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 0.277 179967 chr20 62324315 62324315 C T rs140986557 RTEL1 Nonsynonymous SNV P714L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.95 179968 chr20 62332025 62332025 C T rs35158527 ARFRP1 Synonymous SNV T102T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 16.09 179969 chr17 7679397 7679397 G A rs530683645 DNAH2 Nonsynonymous SNV R1626Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 179970 chr20 62374096 62374096 C T rs7996 SLC2A4RG Synonymous SNV V335V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.01 179971 chr20 62577613 62577613 T C rs751327 UCKL1 Synonymous SNV G89G 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 0.119 179972 chr20 62595882 62595882 C T rs116458703 ZNF512B Nonsynonymous SNV A408T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.727 179973 chr1 158262459 158262459 C T rs3138103 CD1C Synonymous SNV S228S 0.009 0.01 0 1 11 4 0.003 0 0 0 0 0 12.96 179974 chr20 62729482 62729482 C T rs146054818 OPRL1 Synonymous SNV I182I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 179975 chr20 7886919 7886919 G A rs61751020 HAO1 Synonymous SNV D201D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.312 179976 chr20 7915212 7915212 T C rs147089441 HAO1 Nonsynonymous SNV R70G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 179977 chr20 825579 825579 G A rs8124809 FAM110A Synonymous SNV E44E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.586 179978 chr20 9417711 9417711 C T rs34678819 PLCB4 Synonymous SNV T880T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.834 179979 chr20 9438109 9438109 G A rs35285428 PLCB4 Synonymous SNV Q1003Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.595 179980 chr20 9495582 9495582 A C rs113306811 LAMP5-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 7.082 179981 chr20 9561134 9561134 C T rs56054068 PAK5 Synonymous SNV K216K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.86 179982 chr10 88703551 88703551 T C rs768655304 MMRN2 Synonymous SNV Q330Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.009 179983 chr21 15561435 15561435 T C rs17000899 LIPI Nonsynonymous SNV T118A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 11.05 179984 chr21 19704422 19704422 T A rs8134187 TMPRSS15 Nonsynonymous SNV S545C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 179985 chr21 22710709 22710709 T G NCAM2 Nonsynonymous SNV V158G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 179986 chr21 27012154 27012154 C A rs8132639 JAM2 Nonsynonymous SNV H7Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 179987 chr21 27326977 27326977 A G rs45537238 APP Synonymous SNV Y407Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.645 179988 chr11 102567522 102567522 G A rs201248506 MMP27 Synonymous SNV L222L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 10.03 179989 chr21 28337783 28337783 G A rs74822002 ADAMTS5 Nonsynonymous SNV H310Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 179990 chr1 158985763 158985763 A G rs761050302 IFI16 Nonsynonymous SNV T123A 0.004 0 0 0 5 0 0 0 0 0 0 0 0.497 179991 chr21 30338857 30338857 A C rs183687567 LTN1 Synonymous SNV L652L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 179992 chr21 30699085 30699085 T C rs35474725 BACH1 Nonsynonymous SNV S314P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.277 179993 chr21 30968810 30968810 C T rs200846672 GRIK1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 179994 chr21 30968833 30968833 T A rs3026024 GRIK1-AS2 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.87 179995 chr21 30969930 30969930 C T rs60527546 GRIK1-AS2 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.37 179996 chr1 159796693 159796693 T A rs201120920 SLAMF8 Nonsynonymous SNV V2D 0.005 0 0 0 6 0 0 0 0 0 0 0 14.44 179997 chr21 31587954 31587954 A G rs55884670 CLDN8 Nonsynonymous SNV M97T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.933 179998 chr15 40573999 40573999 C T rs372274308 ANKRD63 Synonymous SNV A263A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 10.39 179999 chr1 160057379 160057379 C T rs770700564 KCNJ9 Synonymous SNV D318D 0.005 0 0 0 6 0 0 0 0 0 0 0 11.92 180000 chr20 61511919 61511919 G A rs752048655 DIDO1 Nonsynonymous SNV P1797S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.43 180001 chr11 108044205 108044205 A C rs61913698 NPAT Synonymous SNV P502P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 180002 chr15 40951562 40951562 G A rs761149870 KNL1 Nonsynonymous SNV A2247T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.3 180003 chr15 41193147 41193147 C T rs753659092 VPS18 Nonsynonymous SNV R711C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 33 180004 chr21 33074666 33074666 A C rs77399251 SCAF4 Synonymous SNV L101L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.614 180005 chr21 33694195 33694195 C T rs16989263 URB1 Synonymous SNV Q1800Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 180006 chr20 62190629 62190629 G A rs145774281 HELZ2 Synonymous SNV R2071R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.443 180007 chr21 34117130 34117130 T G rs78435045 PAXBP1 Synonymous SNV V721V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.06 180008 chr21 34804630 34804630 A T rs121913212 IFNGR2 Nonsynonymous SNV E236D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.7 180009 chr15 42150832 42150832 C T rs772065756 SPTBN5 Nonsynonymous SNV A2732T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.79 180010 chr21 35773248 35773248 A G rs61741481 FAM243A, FAM243B Synonymous SNV F41F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.869 180011 chr21 35893650 35893650 C T rs115641181 RCAN1 Nonsynonymous SNV V190I 0.002 0 0.003 0 2 0 0 1 1 0 0 0 2.897 180012 chr21 36088670 36088670 A G rs78180107 CLIC6 Nonsynonymous SNV I651V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.5 180013 chr21 36410843 36410843 C T rs8126714 RUNX1-IT1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.637 180014 chr21 37444937 37444937 G A rs2230191 CBR1 Synonymous SNV T197T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 3.236 180015 chr21 37518679 37518679 A T rs4987121 CBR3 Nonsynonymous SNV M235L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 13.06 180016 chr21 37833361 37833361 G A rs61745291 CLDN14 Synonymous SNV Y211Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.024 180017 chr21 38117247 38117247 G A rs61750768 SIM2 Synonymous SNV P462P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.62 180018 chr21 38438006 38438006 T C rs16994704 PIGP Nonsynonymous SNV Y118C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 27 180019 chr15 42727630 42727630 G C rs148287349 ZNF106 Synonymous SNV A773A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.389 180020 chr21 38581047 38581047 G C rs77252768 DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 1.847 180021 chr15 43020912 43020912 C A rs766492829 CDAN1 Synonymous SNV L914L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 17.47 180022 chr20 62630487 62630487 C T rs150159851 PRPF6 Synonymous SNV D287D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 180023 chr17 8018273 8018273 A C rs894388730 ALOXE3 Nonsynonymous SNV C179W 0 0 0 1 0 0 0.003 0 0 0 0 0 5.752 180024 chr21 40250877 40250877 T C rs77542226 LOC400867 0 0 0.003 0 0 0 0 1 0 0 0 0 0.199 180025 chr21 40650670 40650670 A G rs60360876 BRWD1 Synonymous SNV V334V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.82 180026 chr15 44961238 44961238 G A PATL2 Synonymous SNV T199T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.102 180027 chr21 40978260 40978260 C T rs115038256 B3GALT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.298 180028 chr21 43224757 43224757 G A rs79751505 PRDM15 Synonymous SNV I927I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.884 180029 chr11 119044340 119044340 G A rs746456833 NLRX1 Nonsynonymous SNV A128T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 180030 chr21 43241578 43241578 G A rs28475826 PRDM15 Synonymous SNV F672F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.71 180031 chr21 43259906 43259906 C T rs144860810 PRDM15 Nonsynonymous SNV E270K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.1 180032 chr15 45781214 45781214 C A rs747036858 SLC30A4 Nonsynonymous SNV G240V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 29.9 180033 chr21 43411181 43411181 G A rs61732324 ZBTB21 Synonymous SNV S1008S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 180034 chr21 43412853 43412853 G A rs146658168 ZBTB21 Nonsynonymous SNV A451V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.455 180035 chr21 28337931 28337931 - CGC rs758003412 ADAMTS5 R261_S262insR 0 0.003 0 0 0 1 0 0 0 0 0 0 180036 chr21 43442314 43442314 C T rs116622070 ZNF295-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.295 180037 chr21 43531731 43531731 C T rs114511817 UMODL1 Nonsynonymous SNV T728M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 180038 chr21 43802157 43802157 T C rs115489719 TMPRSS3 Synonymous SNV L323L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.089 180039 chr21 31802978 31802978 T A KRTAP13-4 Nonsynonymous SNV S129T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 180040 chr21 43959676 43959676 C G rs116869533 SLC37A1 Synonymous SNV L135L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.61 180041 chr21 43984879 43984879 G C rs17115134 SLC37A1 Synonymous SNV L399L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.53 180042 chr21 44270309 44270309 G A rs17115515 WDR4 Synonymous SNV A362A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.09 180043 chr21 44273763 44273763 G A rs61729406 WDR4 Synonymous SNV F296F 0 0 0.007 0 0 0 0 2 0 0 0 0 6.002 180044 chr20 33503046 33503046 G A rs374385005 ACSS2 Nonsynonymous SNV R287H 0.003 0 0 0 3 0 0 0 0 0 0 0 12.41 180045 chr21 44438266 44438266 A G rs17115709 PKNOX1 Nonsynonymous SNV T99A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 180046 chr21 44514601 44514601 C T rs61737060 U2AF1, U2AF1L5 Synonymous SNV L185L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.06 180047 chr11 123624477 123624477 G T OR6X1 Stop gain Y250X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 180048 chr21 45507663 45507663 G A rs115506565 TRAPPC10 Nonsynonymous SNV V408M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.803 180049 chr21 45655236 45655236 C T rs140894768 ICOSLG, LOC102723996 Nonsynonymous SNV A89T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.365 180050 chr21 45656756 45656756 C G rs201900032 ICOSLG, LOC102723996 Nonsynonymous SNV V134L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 180051 chr21 45750168 45750168 A G rs11552068 CFAP410 Synonymous SNV D227D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.227 180052 chr15 55651727 55651727 G A rs771098410 CCPG1 Synonymous SNV Y748Y 0 0 0 1 0 0 0.003 0 0 0 0 0 15.52 180053 chr21 45799018 45799018 G A rs45485992 TRPM2 Nonsynonymous SNV V385M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.063 180054 chr21 45825818 45825818 C T rs17004645 TRPM2 Synonymous SNV R896R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.07 180055 chr21 45953576 45953576 C T rs148713881 TSPEAR Synonymous SNV P178P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.23 180056 chr21 46066823 46066823 G A rs145742879 KRTAP10-11 Nonsynonymous SNV V150I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 180057 chr21 46067104 46067104 C T rs75548048 KRTAP10-11 Synonymous SNV P243P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 180058 chr21 46233852 46233852 G A rs141060298 SUMO3 Synonymous SNV C63C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.973 180059 chr21 46271432 46271432 G A rs13433392 PTTG1IP Synonymous SNV A93A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.809 180060 chr19 49227726 49227726 T C rs763278538 RASIP1 Synonymous SNV Q804Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 5.236 180061 chr21 38560896 38560896 G A rs375843135 TTC3 Nonsynonymous SNV R953H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 180062 chr21 46888175 46888175 G A rs115800039 COL18A1 Synonymous SNV V222V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.268 180063 chr21 46897756 46897756 G A rs747388968 COL18A1 Synonymous SNV P546P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.591 180064 chr15 62204098 62204098 C T rs140395700 VPS13C Nonsynonymous SNV E2843K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 180065 chr1 179077526 179077526 T C ABL2 Nonsynonymous SNV K938R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.89 180066 chr21 47406590 47406590 C T rs61751027 COL6A1 Synonymous SNV P193P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 11.78 180067 chr15 62299582 62299582 G C VPS13C Synonymous SNV L362L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.061 180068 chr1 179523660 179523660 A G NPHS2 Synonymous SNV L181L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.601 180069 chr11 125659320 125659320 C A rs1025165 PATE3 Nonsynonymous SNV T30K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 180070 chr20 43036029 43036029 G A rs371557531 HNF4A Nonsynonymous SNV R100Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 180071 chr21 47783815 47783815 G A rs115369710 PCNT Nonsynonymous SNV D741N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 180072 chr21 47831941 47831941 C T rs140398533 PCNT Nonsynonymous SNV S1867F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.02 180073 chr15 65551813 65551813 G A PARP16 Synonymous SNV L186L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.07 180074 chr21 47847613 47847613 G A rs114739559 PCNT Synonymous SNV E2348E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.289 180075 chr21 47850100 47850100 C T rs61735821 PCNT Synonymous SNV L2505L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.172 180076 chr21 47852024 47852024 G C rs141771795 PCNT Nonsynonymous SNV L2882F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.007 180077 chr21 48084282 48084282 G A rs7283432 PRMT2 Nonsynonymous SNV G301E 0 0 0.007 0 0 0 0 2 0 0 1 0 5.675 180078 chr21 45108044 45108044 A G rs201596704 RRP1B Nonsynonymous SNV K597E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 180079 chr10 124457629 124457629 G A rs200069810 C10orf120 Stop gain R210X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 180080 chr22 17687992 17687992 G A rs115986203 ADA2 Nonsynonymous SNV R51W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.52 180081 chr22 18304804 18304804 T C rs186745892 MICAL3 Nonsynonymous SNV Q1147R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.11 180082 chr11 6432548 6432548 C T rs777578946 APBB1 Synonymous SNV S10S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 180083 chr22 19132135 19132135 A C rs114771984 ESS2 Nonsynonymous SNV S7A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.004 180084 chr20 34085642 34085642 C T rs545422424 CEP250 Nonsynonymous SNV T502M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 180085 chr20 34130688 34130688 A G ERGIC3 Nonsynonymous SNV H122R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 180086 chr20 35457463 35457463 C T rs1005246138 SOGA1 Synonymous SNV P355P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.41 180087 chr20 35569456 35569456 C T rs144353824 SAMHD1 Nonsynonymous SNV V112I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.063 180088 chr22 20050883 20050883 G A rs115183927 TANGO2 Nonsynonymous SNV E148K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.7 180089 chr11 6661787 6661787 C T rs139223913 DCHS1 Nonsynonymous SNV R353Q 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 Benign 24.9 180090 chr22 21105998 21105998 C G rs11552980 PI4KA Synonymous SNV L989L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.5 180091 chr15 72579649 72579649 T C CELF6 Nonsynonymous SNV K331R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 180092 chr22 21350054 21350054 C T rs1131176 LZTR1 Synonymous SNV D654D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 13.58 180093 chr18 44139485 44139485 C T rs376021007 LOXHD1 Nonsynonymous SNV G1048S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 180094 chr22 21385961 21385961 C T rs34601402 SLC7A4 Synonymous SNV V47V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.528 180095 chr22 21965298 21965298 C G rs61133050 UBE2L3 Synonymous SNV A60A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.39 180096 chr22 21983314 21983314 G A rs58851250 YDJC Nonsynonymous SNV S196F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 180097 chr22 21996722 21996722 G A rs28436610 SDF2L1 Nonsynonymous SNV A33T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.685 180098 chr22 22277675 22277675 G A rs240061 PPM1F Synonymous SNV S385S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.631 180099 chr22 24034292 24034292 C T rs80045187 RGL4 Synonymous SNV G25G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 8.106 180100 chr22 24036138 24036138 G A rs17003398 RGL4 Nonsynonymous SNV E297K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26 180101 chr22 24038809 24038809 C T rs140819650 RGL4 Synonymous SNV S365S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.563 180102 chr22 24056421 24056421 G A rs73394759 GUSBP11 0 0 0.003 0 0 0 0 1 0 0 0 0 3.95 180103 chr22 24226584 24226584 A T rs34096096 SLC2A11 Nonsynonymous SNV I418F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.819 180104 chr22 24226950 24226950 A G rs60882514 SLC2A11 Nonsynonymous SNV K469E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.003 180105 chr22 24227053 24227053 A G rs60113317 SLC2A11 Nonsynonymous SNV R510G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.885 180106 chr22 24227054 24227054 G T rs56772479 SLC2A11 Nonsynonymous SNV R510I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.114 180107 chr22 24227071 24227071 T C rs72660220 SLC2A11 Nonsynonymous SNV C516R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.421 180108 chr22 24376845 24376845 C T rs2266637 GSTT1 Nonsynonymous SNV V51I 0 0 0.007 0 0 0 0 2 0 0 1 0 24 180109 chr22 24383013 24383013 C T rs8140585 GSTT1 Nonsynonymous SNV A61T 0 0 0.007 0 0 0 0 2 0 0 1 0 1.394 180110 chr15 77233976 77233976 A G rs202241868 RCN2 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.67 180111 chr22 24463123 24463123 T G rs62642523 CABIN1 Synonymous SNV L691L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 3.744 180112 chr22 24573593 24573593 C T rs115707715 CABIN1 Synonymous SNV A2059A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 12.72 180113 chr22 24584021 24584021 C T rs74558263 SUSD2 Synonymous SNV N753N 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 13.28 180114 chr20 43959089 43959089 T C SDC4 Nonsynonymous SNV E121G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 180115 chr15 78317837 78317837 C G rs78162825 TBC1D2B Nonsynonymous SNV V284L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.06 180116 chr22 24837424 24837424 C A rs61729161 ADORA2A Nonsynonymous SNV D402E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.991 180117 chr22 24984186 24984186 T G rs743370 LRRC75B Nonsynonymous SNV S140R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 180118 chr20 58443486 58443486 C G rs371026312 SYCP2 Nonsynonymous SNV D1324H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.317 180119 chr22 25158404 25158404 T A rs79365344 PIWIL3 Nonsynonymous SNV Q21H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.654 180120 chr22 25570363 25570363 C T rs73407439 KIAA1671 Synonymous SNV S1602S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 180121 chr22 26164855 26164855 A T rs58746292 MYO18B Nonsynonymous SNV R324S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.8 180122 chr18 56246645 56246645 G T ALPK2 Nonsynonymous SNV P455T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.087 180123 chr22 26264289 26264289 C T rs77153327 MYO18B Synonymous SNV A1297A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.054 180124 chr22 26423535 26423535 G A rs34875296 MYO18B Nonsynonymous SNV R2533Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 23.2 180125 chr22 28559521 28559521 G A rs12166350 TTC28 Synonymous SNV L334L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.295 180126 chr22 29536343 29536343 C T rs9625721 KREMEN1 Synonymous SNV H399H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.45 180127 chr22 29659953 29659953 G A rs2231394 RHBDD3 Nonsynonymous SNV R135C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.628 180128 chr22 29709359 29709359 G A rs8142725 RASL10A Synonymous SNV R181R 0 0 0.007 0 0 0 0 2 0 0 0 0 14.15 180129 chr20 60895806 60895806 C T rs140781444 LAMA5 Nonsynonymous SNV A2213T 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 Benign 17.02 180130 chr22 29956742 29956742 G A rs146727787 NIPSNAP1 Synonymous SNV Y209Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 180131 chr22 30951882 30951882 G A rs112070427 GAL3ST1 Synonymous SNV N110N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.075 180132 chr22 24175846 24175846 C T SMARCB1 Synonymous SNV D349D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.63 180133 chr22 31283372 31283372 C G LOC107985544 0 0 0.003 0 0 0 0 1 0 0 0 0 2.276 180134 chr22 31481233 31481240 TGTCTTCC - rs370593395 SMTN C59Yfs*69 0 0 0.003 0 0 0 0 1 0 0 0 0 180135 chr22 31485923 31485923 C T rs113930388 SMTN Nonsynonymous SNV P293L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.137 180136 chr22 31850238 31850238 G A rs73396301 EIF4ENIF1 Synonymous SNV A305A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 16.81 180137 chr20 52779397 52779397 T A CYP24A1 Nonsynonymous SNV K283N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 180138 chr22 31924798 31924798 G A rs16989698 SFI1 Nonsynonymous SNV R72H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.024 180139 chr20 61917781 61917781 G T ARFGAP1 Nonsynonymous SNV G187C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 180140 chr22 32081684 32081684 G A rs78356740 PRR14L Synonymous SNV V2095V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.51 180141 chr22 32081705 32081705 T C rs760231795 PRR14L Synonymous SNV L2088L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.127 180142 chr22 32108345 32108345 C T rs116362217 PRR14L Nonsynonymous SNV C1827Y 0 0 0.003 5 0 0 0.013 1 0 0 0 0 Benign 26.9 180143 chr22 32108838 32108838 A G rs114057802 PRR14L Nonsynonymous SNV F1663L 0 0 0.003 5 0 0 0.013 1 0 0 0 0 Benign 24.4 180144 chr22 32109879 32109879 C T rs61461793 PRR14L Nonsynonymous SNV E1316K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.754 180145 chr22 32109927 32109927 C T rs115688748 PRR14L Nonsynonymous SNV V1300I 0 0 0.003 5 0 0 0.013 1 0 0 0 0 Benign 0.009 180146 chr15 86312758 86312758 G A rs370606391 KLHL25 Nonsynonymous SNV P95L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.6 180147 chr19 54659555 54659555 T G rs146921339 LENG1 Nonsynonymous SNV E233D 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.114 180148 chr22 32651295 32651295 T A rs78945352 SLC5A4 Nonsynonymous SNV S8C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 180149 chr20 62191417 62191417 G A rs138935465 HELZ2 Synonymous SNV T1994T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.85 180150 chr22 32665446 32665446 A G rs5998365 SLC5A4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.318 180151 chr22 32665465 32665465 C A rs75018850 SLC5A4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 180152 chr22 32843312 32843312 G A rs28733723 BPIFC Synonymous SNV A87A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.93 180153 chr22 33402580 33402580 G A rs112551420 SYN3 Nonsynonymous SNV T23M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.4 180154 chr22 34046598 34046598 T C rs34642406 LARGE1 Nonsynonymous SNV T55A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.059 180155 chr22 35723320 35723320 G A rs61731679 TOM1 Synonymous SNV S190S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.3 180156 chr22 36124890 36124890 C - rs398102316 APOL5 P417Hfs*27 0 0 0.003 0 0 0 0 1 0 0 0 0 180157 chr22 36678816 36678816 C A rs80050551 MYH9 Synonymous SNV P1927P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 20.9 180158 chr22 36892240 36892240 A C rs36101909 FOXRED2 Nonsynonymous SNV F376L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.13 180159 chr22 36915464 36915464 A G rs138620321 EIF3D Synonymous SNV P233P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.863 180160 chr22 36922067 36922067 G A rs11558515 EIF3D Synonymous SNV S34S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 180161 chr1 209799199 209799199 C T rs143594988 LAMB3 Synonymous SNV A590A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 15.04 180162 chr22 37464655 37464655 C G rs80252000 TMPRSS6 0 0 0.003 0 0 0 0 1 0 0 0 0 2.208 180163 chr20 5924649 5924649 G A TRMT6 Nonsynonymous SNV P163S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 180164 chr22 37769816 37769816 C A rs202143334 ELFN2 Nonsynonymous SNV A587S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 180165 chr22 37966314 37966314 C T rs2235339 LGALS2 Nonsynonymous SNV V119I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.277 180166 chr19 55671382 55671382 C T rs199590885 DNAAF3 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.2 180167 chr22 37966409 37966409 G A rs73884090 LGALS2 Nonsynonymous SNV T87I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 25.6 180168 chr22 38028073 38028073 A G rs12170061 GGA1 Synonymous SNV P446P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.95 180169 chr22 38028456 38028456 A G rs12170248 GGA1 Synonymous SNV P494P 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 0.057 180170 chr22 38038841 38038841 A T rs73422747 LOC101927051 0 0 0.003 0 0 0 0 1 0 0 0 0 0.135 180171 chr22 38046666 38046666 C T rs929038 SH3BP1 Nonsynonymous SNV P511L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.85 180172 chr22 38049816 38049816 C T rs7289630 SH3BP1 Synonymous SNV A543A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 180173 chr22 38209586 38209586 C T rs61737836 GCAT Synonymous SNV A208A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 180174 chr22 38212289 38212289 C T rs35749384 GCAT Nonsynonymous SNV R383W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 180175 chr22 38341124 38341124 T G rs35562630 C22orf23 Nonsynonymous SNV M115L 0 0 0.007 0 0 0 0 2 0 0 1 0 2.829 180176 chr22 38379543 38379543 G A rs73415876 SOX10 Synonymous SNV Y83Y 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 3.24 180177 chr21 30304962 30304962 C T LTN1 Nonsynonymous SNV E1620K 0.003 0 0 0 3 0 0 0 0 0 0 0 35 180178 chr22 38934606 38934606 T C rs2227914 DMC1 Nonsynonymous SNV M145V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 180179 chr22 39928487 39928487 G C rs947327101 RPS19BP1 Nonsynonymous SNV P32A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 180180 chr22 39966777 39966777 C T rs60192012 CACNA1I Nonsynonymous SNV P7L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.48 180181 chr22 40060767 40060767 C T rs16985844 CACNA1I Synonymous SNV F1195F 0.003 0 0.007 5 4 0 0.013 2 0 0 1 0 18.94 180182 chr22 36537812 36537812 C T rs145617479 APOL3 Synonymous SNV T215T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 13.06 180183 chr22 41077548 41077548 C T rs137903389 MCHR1 Synonymous SNV A295A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 10.28 180184 chr22 41903852 41903852 C T rs150593227 ACO2 Synonymous SNV P77P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 9.258 180185 chr12 27835421 27835421 C T rs149093315 PPFIBP1 Synonymous SNV N569N 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 7.008 180186 chr11 46339010 46339010 C T rs573320584 CREB3L1 Synonymous SNV A410A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 180187 chr22 42354362 42354362 G A rs73885869 LINC00634 0 0 0.007 0 0 0 0 2 0 0 0 0 5.651 180188 chr22 42387654 42387654 G A rs35169595 SEPTIN3 Synonymous SNV T249T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.92 180189 chr22 42473586 42473586 C T rs61736039 PHETA2 Nonsynonymous SNV R97C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.7 180190 chr22 42805444 42805444 G C rs17003048 NFAM1 Nonsynonymous SNV N187K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.738 180191 chr22 43572349 43572349 C A rs61729257 TTLL12 Synonymous SNV V298V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.034 180192 chr22 44168845 44168845 C T rs139182657 EFCAB6 Nonsynonymous SNV S93N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 180193 chr22 44328950 44328950 G A rs115531341 PNPLA3 Nonsynonymous SNV V227I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.937 180194 chr22 38234583 38234583 G A rs144208832 ANKRD54 Synonymous SNV G68G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.961 180195 chr22 44386257 44386257 C T rs140665840 SAMM50 Synonymous SNV C445C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 180196 chr12 33031309 33031309 T C rs139139859 PKP2 Nonsynonymous SNV S169G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.055 180197 chr11 1275472 1275472 C T rs201591679 MUC5B Nonsynonymous SNV A5123V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 180198 chr22 44966447 44966447 G C rs368622443 LINC00207 0 0 0.003 0 0 0 0 1 0 0 0 0 1.646 180199 chr22 44967977 44967977 G A rs11912131 LINC00207 0 0 0.003 0 0 0 0 1 0 0 0 0 1.157 180200 chr19 57865133 57865133 G A rs762660868 ZNF304 Nonsynonymous SNV R25Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.3 180201 chr22 45685025 45685025 G A rs145723454 UPK3A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 180202 chr22 45741416 45741416 T A rs61737925 SMC1B Nonsynonymous SNV Q1103L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 180203 chr22 40754964 40754964 G C rs751928831 ADSL Synonymous SNV L193L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.715 180204 chr22 45944593 45944593 C T rs74801622 FBLN1 Synonymous SNV Y514Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.37 180205 chr22 46345825 46345825 G A rs59033960 WNT7B Synonymous SNV T91T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.762 180206 chr1 226062016 226062016 G A rs1018672013 TMEM63A Nonsynonymous SNV R80C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 180207 chr1 227073248 227073248 G A rs148996705 PSEN2 Synonymous SNV T122T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 16.34 180208 chr22 46760037 46760037 G A rs6008777 CELSR1 Nonsynonymous SNV S2964L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 180209 chr22 46793592 46793592 A G rs34467708 CELSR1 Nonsynonymous SNV Y1894H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.467 180210 chr22 46931247 46931247 C T rs35637956 CELSR1 Synonymous SNV T607T 0.002 0 0.003 0 2 0 0 1 1 0 0 0 1.842 180211 chr22 46931309 46931309 T C rs34141466 CELSR1 Nonsynonymous SNV I587V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.388 180212 chr22 47085903 47085903 A T rs34110809 CERK Synonymous SNV P509P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 180213 chr22 47116023 47116023 G A rs9627541 CERK Synonymous SNV H113H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.167 180214 chr22 48940506 48940506 G T rs78011702 LOC284933 0 0 0.024 0 0 0 0 7 0 0 0 0 0.016 180215 chr22 48940714 48940714 - C rs78672876 LOC284933 0 0 0.024 0 0 0 0 7 0 0 0 0 180216 chr22 50280688 50280688 A C rs9627781 ZBED4 Synonymous SNV P1126P 0.001 0 0.014 2 1 0 0.005 4 0 0 0 0 0.012 180217 chr22 50553013 50553013 C T rs149927638 MOV10L1 Nonsynonymous SNV S363L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 180218 chr22 50682554 50682554 T C rs558467451 TUBGCP6 Nonsynonymous SNV D112G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 180219 chr22 50682578 50682578 A G rs8137873 TUBGCP6 Nonsynonymous SNV L104P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25.1 180220 chr22 50716068 50716068 C T rs11547732 PLXNB2 Synonymous SNV A1716A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.493 180221 chr22 50720319 50720319 G A rs79484015 PLXNB2 Synonymous SNV G1103G 0 0 0.007 0 0 0 0 2 0 0 0 0 10.68 180222 chr22 45728588 45728588 C T FAM118A Nonsynonymous SNV P238S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 180223 chr22 50720430 50720430 G C rs56110807 PLXNB2 Synonymous SNV A1066A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.314 180224 chr22 50728168 50728168 G A rs141718957 PLXNB2 Synonymous SNV A282A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.014 180225 chr22 50728355 50728355 G A rs75911819 PLXNB2 Nonsynonymous SNV A220V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 180226 chr21 46326918 46326918 G T ITGB2 Nonsynonymous SNV D80E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.63 180227 chr22 51007694 51007694 A C rs877294 CHKB-CPT1B 0 0 0.003 0 0 0 0 1 0 0 0 0 5.31 180228 chr2 100194825 100194825 C T rs76628527 AFF3 Nonsynonymous SNV R986K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 180229 chr12 52585677 52585677 G A rs112737744 KRT80 Nonsynonymous SNV R4C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 180230 chr2 10050971 10050971 C T rs61742066 TAF1B Synonymous SNV Y99Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 180231 chr2 100900862 100900862 C T rs115283006 LONRF2 Synonymous SNV S721S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 180232 chr22 50523297 50523297 T C rs142192701 MLC1 Nonsynonymous SNV Y12C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 180233 chr2 101650032 101650032 G A rs116402789 TBC1D8 Nonsynonymous SNV R583W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 180234 chr2 101670689 101670689 G A rs114414274 TBC1D8 Nonsynonymous SNV A156V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 180235 chr2 10187874 10187874 A G rs145933214 KLF11 Nonsynonymous SNV D120G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.652 180236 chr21 47838173 47838173 G A rs201728927 PCNT Nonsynonymous SNV S2208N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.534 180237 chr2 102441807 102441807 G A rs61742467 MAP4K4 Synonymous SNV G111G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 180238 chr19 17434587 17434587 T G rs12977101 ANO8 Synonymous SNV A1146A 0.005 0 0.007 4 6 0 0.01 2 3 0 1 2 9.058 180239 chr2 103125380 103125380 G A rs61731292 SLC9A4 Synonymous SNV E492E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.991 180240 chr2 103334983 103334983 G C rs34977505 MFSD9 Nonsynonymous SNV P380A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.5 180241 chr2 103335178 103335178 C T rs34096572 MFSD9 Nonsynonymous SNV A315T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.633 180242 chr2 10350439 10350446 TTCCAGGA - C2orf48 0 0 0.003 0 0 0 0 1 0 0 0 0 180243 chr2 105473147 105473147 C T rs140419524 POU3F3 Synonymous SNV S393S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 180244 chr2 10581757 10581757 A G rs1804032 ODC1 Synonymous SNV P244P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.288 180245 chr2 10582196 10582196 C T rs28362407 ODC1 Synonymous SNV T156T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.23 180246 chr2 112722854 112722854 G A rs7588635 MERTK Nonsynonymous SNV A282T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 24.2 180247 chr2 11284170 11284170 G A rs113814493 C2orf50 Nonsynonymous SNV R141H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 180248 chr2 11300608 11300608 C T rs140598852 SLC66A3 Nonsynonymous SNV R54W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 180249 chr16 5094438 5094438 G A rs746143766 C16orf89 Synonymous SNV L333L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.32 180250 chr2 113332826 113332826 C T rs34754362 POLR1B Synonymous SNV T765T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 180251 chr2 113480717 113480717 A G rs61214343 NT5DC4 Nonsynonymous SNV D170G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 180252 chr2 10188123 10188123 C T rs34336420 KLF11 Nonsynonymous SNV T203M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.11 180253 chr2 102956591 102956591 C G rs148229923 IL1RL1 Synonymous SNV V102V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.419 180254 chr2 113940280 113940280 G A rs1562277 PSD4 Nonsynonymous SNV G83R 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 0.005 180255 chr2 113943571 113943571 C G rs45598832 PSD4 Nonsynonymous SNV P456R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.775 180256 chr2 11755316 11755316 C T rs16857699 GREB1 Synonymous SNV N1074N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.51 180257 chr2 11774391 11774391 A G rs115587270 GREB1 Nonsynonymous SNV Q1709R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.396 180258 chr2 11802146 11802146 C T rs34764121 NTSR2 Nonsynonymous SNV R282K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22 180259 chr16 11944249 11944249 C T rs775247685 RSL1D1 Synonymous SNV L44L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.106 180260 chr2 11913806 11913806 G A rs59909741 LPIN1 Synonymous SNV L219L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.736 180261 chr11 7647017 7647017 G A rs149522575 PPFIBP2 Nonsynonymous SNV A98T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 180262 chr2 120003085 120003085 A G rs149645383 STEAP3 Nonsynonymous SNV M5V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.71 180263 chr22 22892514 22892514 A G rs140739353 PRAME Nonsynonymous SNV I180T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.43 180264 chr2 120438453 120438453 C T rs367992961 TMEM177 Synonymous SNV T8T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.151 180265 chr2 120980334 120980334 G A rs113906846 TMEM185B Synonymous SNV T73T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.22 180266 chr2 124771755 124771755 A G rs57273169 LOC107985820 0 0 0.01 0 0 0 0 3 0 0 0 0 4.427 180267 chr2 128747398 128747398 C T SAP130 Nonsynonymous SNV G533D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 180268 chr12 57919489 57919489 G A rs774678759 MBD6 Synonymous SNV P246P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.033 180269 chr2 128945152 128945152 C T rs17015981 UGGT1 Synonymous SNV L1536L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.79 180270 chr2 131128498 131128498 A G rs1533565 PTPN18 Synonymous SNV T188T 0.004 0 0.017 0 5 0 0 5 1 0 2 0 0.026 180271 chr19 919933 919933 G A rs73507527 KISS1R Nonsynonymous SNV A189T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 5.866 180272 chr2 131674870 131674870 G A rs76778920 ARHGEF4 Nonsynonymous SNV M1117I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 180273 chr16 21658498 21658498 G A rs147257312 IGSF6 Nonsynonymous SNV A128V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 180274 chr2 133175152 133175152 C T rs34714906 GPR39 Synonymous SNV P179P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.1 180275 chr2 133483265 133483265 T C rs115870441 NCKAP5 Nonsynonymous SNV Y564C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 180276 chr19 9491450 9491450 A G ZNF177 Nonsynonymous SNV Y148C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.09 180277 chr2 133489334 133489334 G A rs116732206 NCKAP5 Nonsynonymous SNV R488C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 180278 chr2 133540278 133540278 G A rs200930025 NCKAP5 Nonsynonymous SNV P1369L 0 0 0.003 0 0 0 0 1 0 0 0 0 26 180279 chr2 135744356 135744356 G A rs56211316 MAP3K19 Nonsynonymous SNV R583C 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.001 180280 chr2 135756378 135756378 C T rs6754977 MAP3K19 Synonymous SNV L168L 0.004 0 0.01 0 5 0 0 3 0 0 1 0 8.015 180281 chr2 135922233 135922233 G T rs144455066 RAB3GAP1 Nonsynonymous SNV R892S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.3 180282 chr11 11400647 11400647 C T rs141880350 GALNT18 Nonsynonymous SNV V254M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 180283 chr2 136107710 136107710 T G rs58165671 ZRANB3 Synonymous SNV A145A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.471 180284 chr2 136403061 136403061 A T rs13425947 R3HDM1 Synonymous SNV P400P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.59 180285 chr22 29711117 29711117 C G rs755872241 RASL10A Nonsynonymous SNV R40P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 180286 chr1 1007490 1007490 G A rs532090005 RNF223 Nonsynonymous SNV R153C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.64 180287 chr2 138413153 138413153 G A rs6430735 THSD7B Nonsynonymous SNV R1343H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.432 180288 chr2 141283425 141283425 A G rs72973993 LRP1B Synonymous SNV L2672L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.622 180289 chr16 27352619 27352619 G C IL4R Nonsynonymous SNV D4H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.571 180290 chr2 141680716 141680716 T C rs144637939 LRP1B Nonsynonymous SNV E1046G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 180291 chr2 141816495 141816495 A G rs58748805 LRP1B Synonymous SNV N455N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.99 180292 chr16 28917436 28917436 G A rs760372873 RABEP2 Nonsynonymous SNV R443W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 180293 chr12 71147994 71147994 C T rs73341069 PTPRR Nonsynonymous SNV V33I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.99 180294 chr2 152426721 152426721 C T rs35273905 NEB Synonymous SNV L4067L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 5.585 180295 chr22 32109300 32109300 C A rs111610929 PRR14L Nonsynonymous SNV A1509S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 25.4 180296 chr2 152466506 152466506 C T rs149639365 NEB Synonymous SNV K3806K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 14.85 180297 chr22 32110374 32110374 A G rs12159328 PRR14L Nonsynonymous SNV S1151P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 5.985 180298 chr22 32112866 32112866 T C rs75240208 PRR14L Nonsynonymous SNV N320S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.001 180299 chr16 30779830 30779830 A G rs777375210 RNF40 Nonsynonymous SNV K553R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 180300 chr11 19914019 19914019 C T rs759267045 NAV2 Synonymous SNV S206S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.67 180301 chr2 160019901 160019901 C T rs55929944 TANC1 Nonsynonymous SNV R263C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.4 180302 chr22 26165292 26165292 C T rs745453805 MYO18B Nonsynonymous SNV A470V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.627 180303 chr2 160628427 160628427 G C rs144807087 CD302, LY75-CD302 Nonsynonymous SNV P154A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 180304 chr2 141356334 141356334 C A rs764571078 LRP1B Nonsynonymous SNV A2354S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 180305 chr2 160706546 160706546 G A rs34060340 LY75, LY75-CD302 Nonsynonymous SNV T1032M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 180306 chr12 91449231 91449231 C A rs200988556 KERA Nonsynonymous SNV K276N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.163 180307 chr2 160843747 160843747 C - rs200401364 PLA2R1 A653Qfs*35 0 0.003 0.003 0 0 1 0 1 0 0 0 0 180308 chr2 160843748 160843748 T G rs114280866 PLA2R1 Nonsynonymous SNV K652N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.65 180309 chr2 162361728 162361728 A T rs73005088 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.568 180310 chr2 163128883 163128883 G A rs13418718 IFIH1 Synonymous SNV A823A 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 12.21 180311 chr2 163236530 163236530 A G rs115598826 KCNH7 Synonymous SNV D988D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.08 180312 chr2 165557151 165557151 T C rs114787082 COBLL1 Synonymous SNV V447V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.443 180313 chr2 165754983 165754983 T C rs73015592 SLC38A11 Synonymous SNV T329T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.014 180314 chr2 166767964 166767964 G A rs79656636 TTC21B Synonymous SNV Y778Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.815 180315 chr22 37964445 37964445 C - rs767175635 CDC42EP1 T267Rfs*24 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 180316 chr22 29704627 29704627 C T rs191844093 GAS2L1 Nonsynonymous SNV P178S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.819 180317 chr16 56920387 56920387 C T rs745894714 SLC12A3 Synonymous SNV I679I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.318 180318 chr2 152387613 152387613 G T NEB Synonymous SNV I5474I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.488 180319 chr2 168100905 168100905 A G rs61733879 XIRP2 Synonymous SNV V779V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.611 180320 chr2 168106610 168106610 G A rs3749002 XIRP2 Nonsynonymous SNV G2681D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.079 180321 chr2 168726189 168726189 C A rs144099662 B3GALT1 Synonymous SNV R214R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 180322 chr2 169571610 169571610 C G rs116510340 CERS6 Nonsynonymous SNV L237V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.26 180323 chr12 100377966 100377966 G A rs200240398 ANKS1B Nonsynonymous SNV A17V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.9 180324 chr2 169690748 169690748 A G rs13384876 NOSTRIN Synonymous SNV K111K 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 5.168 180325 chr2 169690831 169690831 G A rs73969974 NOSTRIN Nonsynonymous SNV R139Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.88 180326 chr1 3102694 3102694 G A rs201559520 PRDM16 Nonsynonymous SNV G15S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 20.3 180327 chr2 169783728 169783728 C T rs1521808 ABCB11 Nonsynonymous SNV E1186K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign, other 26.1 180328 chr22 38710136 38710136 G A rs746723989 CSNK1E, TPTEP2-CSNK1E Synonymous SNV Y9Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.794 180329 chr2 169836388 169836388 C T rs57509552 ABCB11 Synonymous SNV E395E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.22 180330 chr2 169853220 169853220 G A rs11568377 ABCB11 Synonymous SNV I134I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 11.38 180331 chr2 169997009 169997009 G A rs16856476 LRP2 Synonymous SNV H4385H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.27 180332 chr2 170068564 170068564 A G rs2228168 LRP2 Nonsynonymous SNV I2065T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.4 180333 chr11 65088508 65088508 G A rs143788676 CDC42EP2 Nonsynonymous SNV G47S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 180334 chr2 170657482 170657482 T C rs75071267 SSB Synonymous SNV N4N 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 7.134 180335 chr2 170668977 170668977 T C rs115224202 METTL5 Nonsynonymous SNV K194R 0 0 0.007 0 0 0 0 2 0 0 1 0 21.3 180336 chr2 171570673 171570673 G A rs373534393 LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 9.908 180337 chr11 46394365 46394365 G A rs931555578 DGKZ Synonymous SNV P349P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.09 180338 chr2 173368854 173368854 T C rs150113724 ITGA6 Synonymous SNV S1050S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 180339 chr2 174130813 174130813 C T rs7593622 MAP3K20 Nonsynonymous SNV R580W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 34 180340 chr1 11850947 11850947 G A rs115049252 MTHFR Synonymous SNV A628A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.4 180341 chr2 175324715 175324715 G A rs76308372 GPR155 Synonymous SNV F526F 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 14.69 180342 chr2 176866899 176866899 G C rs570578676 LNPK Synonymous SNV P40P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 180343 chr2 17696602 17696602 T C rs80329384 RAD51AP2 Synonymous SNV A1027A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.21 180344 chr16 68943286 68943286 T C rs772511522 TANGO6 Nonsynonymous SNV I658T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 180345 chr2 177034216 177034216 C A rs74698314 HOXD3 Nonsynonymous SNV T125N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 180346 chr2 177494804 177494804 T C rs116827093 LINC01116 0 0 0.003 0 0 0 0 1 0 0 0 0 2.323 180347 chr11 65784578 65784578 G A rs147304194 CATSPER1 Nonsynonymous SNV R757C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.6 180348 chr2 178081610 178081610 T C rs149890088 HNRNPA3 Synonymous SNV G232G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.638 180349 chr2 178098917 178098917 C T rs35248500 NFE2L2 Nonsynonymous SNV R27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.88 180350 chr2 167277726 167277726 C T SCN7A Nonsynonymous SNV V1037I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 180351 chr2 179403445 179403445 A G rs77257306 TTN Synonymous SNV Y23972Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.494 180352 chr2 179407637 179407637 G A rs56027402 TTN Nonsynonymous SNV T23250I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 19.28 180353 chr2 179410284 179410284 G A rs72648260 TTN Synonymous SNV S22786S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.88 180354 chr2 169730179 169730179 A T SPC25 Nonsynonymous SNV F156I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 180355 chr2 179421853 179421853 C T rs73036368 TTN Nonsynonymous SNV R20278H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 180356 chr2 179422412 179422412 A G rs72648229 TTN Synonymous SNV H20158H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 1.936 180357 chr2 179426507 179426507 G A rs56057221 TTN Nonsynonymous SNV R19053C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23.1 180358 chr2 179427803 179427803 C T rs56309296 TTN Nonsynonymous SNV V18621I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 19.86 180359 chr2 170068598 170068598 C T rs138269726 LRP2 Nonsynonymous SNV D2054N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.7 180360 chr2 179428901 179428901 C T rs56365600 TTN Nonsynonymous SNV A18255T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.78 180361 chr2 179429802 179429802 A G rs114908705 TTN Synonymous SNV T17954T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.142 180362 chr2 179441119 179441119 G A rs115658240 TTN Nonsynonymous SNV P14182L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.62 180363 chr2 179478567 179478567 T G rs74321406 TTN Synonymous SNV P7416P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.826 180364 chr2 179499289 179499289 G A rs150612172 TTN Synonymous SNV F5008F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.36 180365 chr2 179577424 179577424 C T TTN Nonsynonymous SNV A7866T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 180366 chr2 179595271 179595271 C T rs72648946 TTN Nonsynonymous SNV A4753T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 180367 chr2 17962928 17962928 A G rs77374434 GEN1 Nonsynonymous SNV T817A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.008 180368 chr2 179639711 179639711 C A rs138787974 TTN Nonsynonymous SNV D2197Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.1 180369 chr2 179642665 179642665 G A rs72647875 TTN Nonsynonymous SNV R1370C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 23.8 180370 chr2 179643632 179643632 T C rs16866531 TTN Nonsynonymous SNV I1347V 0.002 0 0.01 0 2 0 0 3 0 0 1 0 Benign/Likely benign 12.38 180371 chr2 177053728 177053728 G C rs577155560 HOXD1 Nonsynonymous SNV A67P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.034 180372 chr2 179749680 179749680 T C rs141003457 CCDC141 Nonsynonymous SNV Y556C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.004 180373 chr22 38120216 38120216 A G rs757267761 TRIOBP Synonymous SNV T551T 0.003 0 0 0 4 0 0 0 0 0 0 0 1.884 180374 chr2 18112301 18112301 G A rs34458219 KCNS3 Nonsynonymous SNV R9H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 180375 chr22 50688907 50688907 C T HDAC10 Synonymous SNV K80K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.01 180376 chr22 39910101 39910101 A G MIEF1 Nonsynonymous SNV I389V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.049 180377 chr22 41527566 41527566 T C EP300 Nonsynonymous SNV V486A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.88 180378 chr2 187511466 187511466 A G rs3738918 ITGAV Nonsynonymous SNV I369V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.1 180379 chr22 51177893 51177893 T C rs750963565 ACR Nonsynonymous SNV V91A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 180380 chr22 41832856 41832856 G T rs765640014 TOB2 Nonsynonymous SNV T165N 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 180381 chr2 100020945 100020945 C T rs3087401 REV1 Nonsynonymous SNV A1002T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.032 180382 chr2 187713847 187713847 C T rs76739060 ZSWIM2 Nonsynonymous SNV R4Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 16.93 180383 chr2 188250275 188250275 A T rs13391909 CALCRL Nonsynonymous SNV F16L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.012 180384 chr2 188361675 188361675 A G rs10176633 TFPI Synonymous SNV Y84Y 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 5.502 180385 chr2 190541469 190541469 C T rs116124546 ANKAR Synonymous SNV L85L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.58 180386 chr2 190541497 190541497 T G rs140832996 ANKAR Nonsynonymous SNV L94R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 6.77 180387 chr16 84215457 84215457 A T TAF1C Nonsynonymous SNV V310D 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 180388 chr2 190927160 190927160 C T rs1805085 MSTN Nonsynonymous SNV A55T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 16.31 180389 chr2 191073613 191073613 A T rs13406709 HIBCH Synonymous SNV V346V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.351 180390 chr2 179654729 179654729 T C rs727504691 TTN Synonymous SNV E592E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.833 180391 chr2 196852787 196852787 C T rs116306469 DNAH7 Nonsynonymous SNV R507Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.83 180392 chr11 82875309 82875309 A G rs138513585 PCF11 Nonsynonymous SNV I190V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.68 180393 chr2 198363429 198363429 G A rs11551346 HSPD1 Synonymous SNV A48A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.48 180394 chr2 198646571 198646571 G C rs61732251 BOLL Nonsynonymous SNV Q8E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 180395 chr2 106509599 106509599 G C rs371017821 NCK2 Synonymous SNV G370G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.66 180396 chr2 202154247 202154247 A G rs149151936 FLACC1 Nonsynonymous SNV F359L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 180397 chr2 202248933 202248933 G C rs142149505 TRAK2 Nonsynonymous SNV T657S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 180398 chr2 202356487 202356487 G A rs183237351 C2CD6 Nonsynonymous SNV S1526F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.39 180399 chr2 202430563 202430563 G C rs139497751 C2CD6 Nonsynonymous SNV P289R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 180400 chr2 202466517 202466517 T C rs146407058 C2CD6 Nonsynonymous SNV N154S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 180401 chr2 109546603 109546603 C T rs149582563 EDAR Synonymous SNV P49P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.533 180402 chr2 202672610 202672610 A G rs77557988 CDK15 Synonymous SNV S101S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.856 180403 chr2 202744818 202744818 G C rs61995877 CDK15 Nonsynonymous SNV V376L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 180404 chr2 202939791 202939791 A G rs6709148 KIAA2012 Nonsynonymous SNV R88G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 16.73 180405 chr2 113479573 113479573 C T rs200414174 NT5DC4 Synonymous SNV S32S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.5 180406 chr2 204801577 204801577 C T rs77411896 ICOS Nonsynonymous SNV R14C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 180407 chr2 206588570 206588570 G A rs2228642 NRP2 Synonymous SNV T242T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.36 180408 chr2 187626527 187626527 G A rs749377956 FAM171B Synonymous SNV E486E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.514 180409 chr2 207570515 207570515 G A rs200713304 DYTN Stop gain R127X 0 0 0.01 0 0 0 0 3 0 0 1 0 35 180410 chr1 1563752 1563752 C G rs374167559 MIB2 Synonymous SNV R697R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.783 180411 chr2 207953241 207953241 G A rs113701414 KLF7 Nonsynonymous SNV S199L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.74 180412 chr2 191895653 191895653 G A rs192557711 LOC105373805 0 0.003 0 0 0 1 0 0 0 0 0 0 6.023 180413 chr2 20870778 20870778 G A rs369980607 GDF7 Nonsynonymous SNV G316S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.8 180414 chr2 208841951 208841951 A T rs74742009 PLEKHM3 Nonsynonymous SNV S324T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 180415 chr2 210557430 210557430 A G rs6749066 MAP2 Nonsynonymous SNV E175G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.92 180416 chr2 210559821 210559821 A T rs13425372 MAP2 Nonsynonymous SNV H972L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.5 180417 chr2 210682568 210682568 G T rs143103069 UNC80 Nonsynonymous SNV A529S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.7 180418 chr2 210682642 210682642 C G rs144752663 UNC80 Synonymous SNV P553P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.09 180419 chr2 210683748 210683748 G A rs77323032 UNC80 Synonymous SNV A575A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.335 180420 chr2 210685078 210685078 G C rs149024162 UNC80 Nonsynonymous SNV S669T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.9 180421 chr2 210685100 210685100 G A rs13432185 UNC80 Synonymous SNV A676A 0.003 0 0.014 2 4 0 0.005 4 0 0 0 0 2.824 180422 chr2 210685367 210685367 C T rs13432245 UNC80 Synonymous SNV G765G 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 16.42 180423 chr2 210699693 210699693 T C rs139128995 UNC80 Synonymous SNV C1000C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.469 180424 chr2 210704106 210704106 T G rs148484278 UNC80 Nonsynonymous SNV S1068A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 180425 chr2 210705279 210705279 G A rs116304707 UNC80 Synonymous SNV K1090K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.09 180426 chr2 210882889 210882889 - AA rs111271913 RPE Stop gain S193* 0 0 0.003 0 0 0 0 1 0 0 0 0 180427 chr2 201800518 201800518 T C rs146369348 ORC2 Synonymous SNV A204A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.441 180428 chr16 89623304 89623304 G A rs747521455 SPG7 Nonsynonymous SNV A731T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 180429 chr11 107299725 107299725 G A rs117094448 CWF19L2 Synonymous SNV N411N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.198 180430 chr2 215813765 215813765 C T rs760439616 ABCA12 Nonsynonymous SNV G2003R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 35 180431 chr2 102476214 102476214 C T rs978627982 MAP4K4 Nonsynonymous SNV P531L 0.003 0 0 0 3 0 0 0 0 0 0 0 23 180432 chr2 215876200 215876200 C T rs10185368 ABCA12 Synonymous SNV E447E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.38 180433 chr2 216235046 216235046 C T rs6728999 FN1 Nonsynonymous SNV R2069Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 180434 chr2 216960884 216960884 C T rs148746587 TMEM169 Synonymous SNV P66P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.745 180435 chr2 217293414 217293414 A G rs58848916 SMARCAL1 Nonsynonymous SNV S415G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.022 180436 chr17 651144 651144 C T rs138673289 GEMIN4 Nonsynonymous SNV V47M 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 23 180437 chr2 217541525 217541525 G A rs77515024 IGFBP5 Synonymous SNV Y256Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 180438 chr2 218674598 218674598 C T rs201730716 TNS1 Nonsynonymous SNV V1616I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 180439 chr2 218682497 218682497 C T rs61746065 TNS1 Nonsynonymous SNV A1395T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 180440 chr2 218683203 218683203 C T rs2552525 TNS1 Synonymous SNV A1159A 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 15.12 180441 chr2 218696215 218696215 A G rs2552530 TNS1 Synonymous SNV P987P 0.003 0.003 0.014 0 3 1 0 4 0 0 1 0 9.592 180442 chr2 218713695 218713695 C T rs61743889 TNS1 Synonymous SNV S390S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.31 180443 chr2 218938595 218938595 A T rs115701928 RUFY4 Nonsynonymous SNV D196V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.959 180444 chr2 218940396 218940396 A G rs77844068 RUFY4 Nonsynonymous SNV Q394R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.493 180445 chr2 219029647 219029647 G A rs3092972 CXCR1 Synonymous SNV A96A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.48 180446 chr2 219134726 219134726 G A rs34118048 AAMP Synonymous SNV I28I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 180447 chr2 219508287 219508287 G A rs61733645 ZNF142 Synonymous SNV V984V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.94 180448 chr2 219509497 219509497 C T rs573181948 ZNF142 Nonsynonymous SNV R581H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 180449 chr2 219603652 219603652 G A rs2114664 TTLL4 Nonsynonymous SNV R418H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 180450 chr2 219618925 219618925 C T rs9989776 TTLL4 Nonsynonymous SNV T1138I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.75 180451 chr2 219920346 219920346 G A rs61747697 IHH Synonymous SNV P273P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.744 180452 chr2 220100212 220100212 C T rs77280560 ANKZF1 Nonsynonymous SNV P360S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 24.2 180453 chr2 210801605 210801605 C T rs769091897 UNC80 Nonsynonymous SNV S2038L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 180454 chr2 220161204 220161204 G A rs150127850 PTPRN Nonsynonymous SNV A753V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 180455 chr2 220192255 220192255 G A rs374337407 RESP18 Nonsynonymous SNV P224L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.863 180456 chr2 220349355 220349355 C T rs73087217 SPEG Synonymous SNV R2390R 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Benign 12.14 180457 chr2 220402377 220402377 G T rs148622543 ASIC4 Synonymous SNV R583R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.308 180458 chr2 21363747 21363747 A C rs948597138 TDRD15 Nonsynonymous SNV K1136N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 180459 chr2 220414471 220414471 C T rs780003867 TMEM198 Synonymous SNV T326T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.42 180460 chr2 220417286 220417286 G A rs373081802 OBSL1 Synonymous SNV P1760P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.97 180461 chr13 47255937 47255937 G A rs201321936 LRCH1 Nonsynonymous SNV R214Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 180462 chr1 85573749 85573749 A G rs765188086 WDR63 Synonymous SNV K490K 0.004 0 0 0 5 0 0 0 0 0 0 0 0.172 180463 chr2 223799290 223799290 G A rs141462096 ACSL3 Synonymous SNV K630K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.18 180464 chr2 224630014 224630014 G A rs61737679 AP1S3 Synonymous SNV D115D 0 0 0.003 0 0 0 0 1 0 0 0 0 11 180465 chr2 224824484 224824484 C T rs11546406 MRPL44 Nonsynonymous SNV T138I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 10.61 180466 chr2 224824695 224824695 T C rs35331337 MRPL44 Synonymous SNV P208P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 1.557 180467 chr2 224866639 224866639 C T rs77677571 SERPINE2 Synonymous SNV R5R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.707 180468 chr2 225244902 225244902 A G rs74519948 FAM124B Synonymous SNV G252G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 180469 chr2 225343040 225343040 G A rs61743301 CUL3 Synonymous SNV S618S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.93 180470 chr2 225639785 225639785 G A rs16866167 DOCK10 Synonymous SNV T1944T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.308 180471 chr2 162565335 162565335 A C SLC4A10 Nonsynonymous SNV H26P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 180472 chr17 4578122 4578122 C T rs781400324 PELP1 Synonymous SNV P468P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.16 180473 chr2 227906883 227906883 T C rs2229815 COL4A4 Synonymous SNV P1162P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.221 180474 chr2 227922261 227922261 T A rs34835657 COL4A4 Synonymous SNV G813G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.517 180475 chr2 227927294 227927294 C T rs34236495 COL4A4 Nonsynonymous SNV V670I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.78 180476 chr2 228168748 228168748 C A rs73996414 COL4A3 Nonsynonymous SNV D1347E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.02 180477 chr2 228195473 228195473 C T rs149692814 MFF Nonsynonymous SNV P31L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 180478 chr13 79940211 79940211 G A rs148858995 RBM26 Nonsynonymous SNV P419S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 180479 chr2 136594701 136594701 T C LCT Synonymous SNV L13L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.027 180480 chr2 231248279 231248279 A G rs114029097 SP140L Nonsynonymous SNV N206S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 180481 chr2 231314314 231314314 T A rs888513727 SP100 Nonsynonymous SNV C184S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.397 180482 chr2 231740407 231740407 A G rs113416613 ITM2C Nonsynonymous SNV M65V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.422 180483 chr2 231973416 231973416 T C rs6736017 HTR2B Nonsynonymous SNV M421V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.007 180484 chr2 231988388 231988388 A G rs61731727 HTR2B Nonsynonymous SNV W31R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.017 180485 chr2 233251509 233251509 A T rs116068897 ECEL1P2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.666 180486 chr2 233321379 233321379 C T rs61732024 ALPI Nonsynonymous SNV R92C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 180487 chr2 233431817 233431817 T C rs138990648 EIF4E2 Synonymous SNV T141T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.654 180488 chr2 172930338 172930338 A G METAP1D Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 180489 chr2 233899079 233899079 G A rs113887175 NEU2 Nonsynonymous SNV R152Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.42 180490 chr2 233899147 233899147 G A rs150676202 NEU2 Nonsynonymous SNV V175M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 180491 chr2 152541295 152541295 G A rs114076205 NEB Synonymous SNV S944S 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 Benign/Likely benign 6.837 180492 chr11 125514493 125514493 T C rs374032447 CHEK1 Synonymous SNV T412T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.747 180493 chr2 178257731 178257731 A G rs560217758 AGPS Nonsynonymous SNV T72A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.653 180494 chr2 234465618 234465618 G A rs146417018 USP40 Synonymous SNV S143S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.79 180495 chr2 234704691 234704691 G A rs559303665 MROH2A Nonsynonymous SNV A380T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 180496 chr2 234708879 234708879 G A rs188599854 MROH2A Nonsynonymous SNV R493K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.495 180497 chr2 234708915 234708915 T C rs113399370 MROH2A Nonsynonymous SNV M505T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 180498 chr2 234708936 234708936 C T MROH2A Nonsynonymous SNV T512I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 180499 chr2 234713173 234713173 T G rs61650568 MROH2A Nonsynonymous SNV W642G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 180500 chr2 234737632 234737632 A G rs28900694 MROH2A Nonsynonymous SNV T1456A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.416 180501 chr2 234740061 234740061 A G rs11563074 MROH2A Nonsynonymous SNV M1539V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.831 180502 chr2 236706486 236706486 T C AGAP1 Nonsynonymous SNV S253P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 180503 chr17 7467029 7467029 T C rs771664660 SENP3 Synonymous SNV S212S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.25 180504 chr2 237349758 237349758 G C rs35954558 IQCA1 Synonymous SNV T312T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.567 180505 chr2 228884856 228884856 A G rs143237306 SPHKAP Synonymous SNV N238N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 180506 chr2 230456446 230456446 G A rs149755089 DNER Synonymous SNV T145T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 9.662 180507 chr2 238270433 238270433 C T rs35556524 COL6A3 Synonymous SNV K1428K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.24 180508 chr2 238275730 238275730 C T rs34340053 COL6A3 Synonymous SNV R1093R 0 0 0.007 1 0 0 0.003 2 0 0 1 0 Benign 12.32 180509 chr2 180835443 180835443 C G rs143785942 CWC22 Nonsynonymous SNV E361Q 0.002 0 0.014 0 2 0 0 4 0 0 0 0 27.8 180510 chr13 111932927 111932927 A G rs201908744 ARHGEF7 Nonsynonymous SNV Q308R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.03 180511 chr13 113634021 113634021 C T rs370203817 MCF2L Synonymous SNV L14L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.689 180512 chr2 239013346 239013346 T C rs146620287 ESPNL Nonsynonymous SNV C179R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 180513 chr11 65988186 65988186 A T PACS1 Nonsynonymous SNV M375L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.49 180514 chr2 233498472 233498474 GAG - EFHD1 E21del 0 0.003 0 0 0 1 0 0 0 0 0 0 180515 chr2 241513972 241513972 C T rs11557337 RNPEPL1 Synonymous SNV D405D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 180516 chr2 241685247 241685247 G A rs35664935 KIF1A Synonymous SNV H993H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.084 180517 chr2 241726704 241726704 G A rs35139906 KIF1A Synonymous SNV N131N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.822 180518 chr2 241835110 241835110 G A rs146162100 MAB21L4 Nonsynonymous SNV P102L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.911 180519 chr2 241858235 241858235 C G rs116685065 CROCC2 Synonymous SNV P57P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.438 180520 chr14 20853163 20853163 G A rs767272386 TEP1 Nonsynonymous SNV R922W 0.002 0 0 3 2 0 0.008 0 0 0 0 0 34 180521 chr2 242012729 242012729 G A rs6721345 SNED1 Nonsynonymous SNV R1289Q 0 0 0.007 0 0 0 0 2 0 0 0 0 14.56 180522 chr17 10346831 10346831 T C rs1026248729 MYH4 Nonsynonymous SNV N1894S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 16.6 180523 chr2 242035516 242035518 TCA - rs142629642 MTERF4 D159del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 180524 chr2 242036769 242036769 G A rs10171090 MTERF4 Synonymous SNV V10V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.357 180525 chr2 242065635 242065635 A G rs77674262 PASK Nonsynonymous SNV Y899H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.539 180526 chr2 242065798 242065798 T C rs13427684 PASK Synonymous SNV P844P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.146 180527 chr17 11554443 11554443 C T rs140152298 DNAH9 Nonsynonymous SNV P719S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.9 180528 chr2 242572693 242572693 C T rs147500721 THAP4 Synonymous SNV P293P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 180529 chr20 19956007 19956007 G C rs367993633 RIN2 Synonymous SNV R446R 0.005 0.008 0.003 0 6 3 0 1 0 0 0 0 Benign/Likely benign 2.34 180530 chr2 24974856 24974856 G A rs56099330 NCOA1 Nonsynonymous SNV V1238I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 180531 chr2 239054324 239054324 C T rs201204690 KLHL30 Nonsynonymous SNV S334F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 180532 chr20 22563442 22563442 C G rs201700439 FOXA2 Synonymous SNV A146A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.75 180533 chr2 239344574 239344574 C T rs34796278 ASB1 Synonymous SNV N138N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.63 180534 chr12 7362801 7362801 G A rs145886418 PEX5 Nonsynonymous SNV M626I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.2 180535 chr2 179528821 179528821 G A rs201184203 TTN Synonymous SNV H12095H 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 3.231 180536 chr2 26540951 26540951 G A rs116141676 ADGRF3 Synonymous SNV S73S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.703 180537 chr2 26637228 26637228 T C rs74936036 DRC1 Nonsynonymous SNV Y58H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.9 180538 chr2 26676208 26676208 G A rs76446726 DRC1 Synonymous SNV A570A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.019 180539 chr2 241516178 241516178 G A rs140305556 RNPEPL1 Synonymous SNV P579P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.631 180540 chr2 26677596 26677596 A G rs116119084 DRC1 Synonymous SNV T667T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.036 180541 chr2 26700288 26700288 T A rs61739883 OTOF Nonsynonymous SNV E111V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 32 180542 chr2 26700289 26700289 C A rs75624587 OTOF Stop gain E111X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 41 180543 chr2 26781389 26781389 G A rs142333075 OTOF Synonymous SNV G17G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.58 180544 chr2 27293014 27293014 A T rs201614685 AGBL5 Synonymous SNV I848I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 180545 chr2 242076464 242076464 G A rs1049314813 PASK Synonymous SNV F364F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.848 180546 chr2 27323372 27323372 T C rs73921452 CGREF1 Nonsynonymous SNV I109V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.515 180547 chr2 27354306 27354306 C T rs61276776 PREB Synonymous SNV Q352Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 180548 chr2 27360863 27360863 G C rs139570211 PRR30 Nonsynonymous SNV S112C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 180549 chr2 27361049 27361049 G C rs61739485 PRR30 Nonsynonymous SNV P50R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.812 180550 chr2 26534008 26534008 G A rs141987471 ADGRF3 Nonsynonymous SNV A664V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 180551 chr2 26534698 26534698 A G rs146864223 ADGRF3 Nonsynonymous SNV L434P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 19.25 180552 chr2 31423364 31423364 C T rs372312550 CAPN14 Nonsynonymous SNV E227K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.218 180553 chr2 31571197 31571197 G A rs45604135 XDH Synonymous SNV G1028G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.02 180554 chr2 31598339 31598339 G C rs45612839 XDH Synonymous SNV G503G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 7.755 180555 chr2 31602791 31602791 T A rs34929837 XDH Nonsynonymous SNV K395M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.6 180556 chr2 31602841 31602841 G A rs45612738 XDH Synonymous SNV G378G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.296 180557 chr2 186667755 186667755 T C rs992361136 FSIP2 Synonymous SNV D4574D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 180558 chr2 33150677 33150677 A C rs76516332 LINC00486 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 180559 chr2 33150763 33150763 G A rs79780468 LINC00486 0 0 0.003 0 0 0 0 1 0 0 0 0 0.503 180560 chr2 33413908 33413908 T C rs61751739 LTBP1 Nonsynonymous SNV I238T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.69 180561 chr2 33809984 33809984 A G rs11893662 FAM98A Synonymous SNV G277G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.126 180562 chr2 37454998 37454998 A G rs1803251 CEBPZ Synonymous SNV N446N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.31 180563 chr2 3789603 3789603 C T rs36010676 DCDC2C Synonymous SNV I170I 0 0 0.007 0 0 0 0 2 0 0 1 0 12.14 180564 chr2 38156765 38156765 A G rs61743789 RMDN2 Nonsynonymous SNV I115M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.304 180565 chr12 13140215 13140215 T C HEBP1 Nonsynonymous SNV E90G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 180566 chr2 38525660 38525660 C G rs7582826 ATL2 Nonsynonymous SNV D249H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.29 180567 chr2 38893450 38893450 G A rs34708402 GALM Synonymous SNV Q49Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 180568 chr2 196801491 196801491 G A rs368612455 DNAH7 Nonsynonymous SNV T1035I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 180569 chr2 39996958 39996960 TTC - rs138819745 THUMPD2 E188del 0 0 0.003 0 0 0 0 1 0 0 0 0 180570 chr2 43452608 43452608 A T rs76867290 ZFP36L2 Nonsynonymous SNV L112Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 180571 chr2 43455003 43455003 C G rs17030566 LINC01126 0 0 0.007 0 0 0 0 2 0 0 0 0 7.777 180572 chr2 43797629 43797629 T G rs75542920 THADA Nonsynonymous SNV E695D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 180573 chr2 36986201 36986201 C T rs376684714 VIT Nonsynonymous SNV R167C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.83 180574 chr2 43927585 43927585 T C rs17031300 PLEKHH2 Synonymous SNV S496S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.18 180575 chr2 44073367 44073367 G A rs80025980 ABCG8 Nonsynonymous SNV C80Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.086 180576 chr2 44079559 44079559 G A rs9282574 ABCG8 Nonsynonymous SNV V210M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.97 180577 chr2 44223046 44223046 G C rs114205971 LRPPRC Nonsynonymous SNV A14G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 9.852 180578 chr19 57640593 57640593 C G rs147668479 USP29 Nonsynonymous SNV L184V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.193 180579 chr2 44571008 44571008 A T rs72875319 PREPL Synonymous SNV A164A 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 8.169 180580 chr2 46609629 46609629 C A rs61518065 EPAS1 Nonsynonymous SNV P785T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 13.25 180581 chr2 46707709 46707709 A G rs61995899 TMEM247 Nonsynonymous SNV T95A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.001 180582 chr2 202357935 202357935 A T rs200715227 C2CD6 Nonsynonymous SNV N1043K 0.003 0 0 0 3 0 0 0 0 0 0 0 3.229 180583 chr2 47287957 47287957 C T rs17036191 TTC7A Synonymous SNV I380I 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 16.79 180584 chr2 39085871 39085871 A G DHX57 Nonsynonymous SNV Y405H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 180585 chr2 47637439 47637439 C T rs1800151 MSH2 Synonymous SNV L191L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.46 180586 chr2 47748487 47748487 G A rs77883212 KCNK12 Synonymous SNV I284I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.81 180587 chr2 50280469 50280469 C T rs74714098 NRXN1 Synonymous SNV T291T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.08 180588 chr2 52929691 52929691 A G rs73931408 MIR4431 0 0 0.003 0 0 0 0 1 0 0 0 0 2.634 180589 chr2 54081416 54081416 A C rs35349235 GPR75 Nonsynonymous SNV C160G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.491 180590 chr2 54482942 54482942 G A rs13424808 TSPYL6 Nonsynonymous SNV P116L 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 1.509 180591 chr2 54483079 54483079 A G rs13401799 TSPYL6 Synonymous SNV T70T 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.011 180592 chr2 54756491 54756491 G A rs61746072 RPL23AP32 0 0 0.003 0 0 0 0 1 0 0 0 0 4.318 180593 chr2 54858181 54858181 C T rs61730126 SPTBN1 Synonymous SNV T986T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.72 180594 chr2 44209507 44209507 G A rs770151488 LRPPRC Synonymous SNV S72S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.168 180595 chr19 57956386 57956386 C T rs182109942 ZNF749 Nonsynonymous SNV R537C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.4 180596 chr2 55191725 55191725 A C rs11895689 EML6 Synonymous SNV R1783R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.736 180597 chr2 55529179 55529179 G C rs150978572 CCDC88A Nonsynonymous SNV L1473V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.43 180598 chr1 210502359 210502359 C T rs751470031 HHAT Nonsynonymous SNV S2L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.5 180599 chr2 207174409 207174409 G A rs199787242 ZDBF2 Synonymous SNV A1719A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 9.514 180600 chr2 220364923 220364923 A G rs370732362 GMPPA Nonsynonymous SNV I41V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 180601 chr2 55800864 55800864 T C rs76205247 PPP4R3B Synonymous SNV T520T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.19 180602 chr17 36484571 36484571 C T rs373824707 GPR179 Synonymous SNV S1627S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 180603 chr2 48027506 48027506 T C rs202127474 MSH6 Nonsynonymous SNV I665T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 180604 chr2 55844338 55844338 G A rs61995875 PPP4R3B Synonymous SNV S28S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 180605 chr2 61715324 61715324 C T rs7597290 XPO1 Synonymous SNV V763V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 180606 chr2 62228090 62228090 A T rs138411696 COMMD1 Synonymous SNV I79I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 180607 chr2 55080985 55080985 C T EML6 Synonymous SNV L550L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 180608 chr2 63175810 63175810 G A rs74717002 EHBP1 Nonsynonymous SNV R610H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 180609 chr2 63667005 63667005 G C rs191796211 WDPCP Nonsynonymous SNV L129V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.8 180610 chr2 63821663 63821663 A G rs17028056 MDH1 Synonymous SNV Q33Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.005 180611 chr2 64113619 64113619 A C rs376047157 UGP2 Nonsynonymous SNV K329Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 180612 chr2 64208924 64208924 G A rs6736162 VPS54 Synonymous SNV N66N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.058 180613 chr2 65248131 65248131 A G rs80013206 SLC1A4 Nonsynonymous SNV K186E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.378 180614 chr2 67632016 67632016 A G rs116342176 ETAA1 Synonymous SNV T734T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.009 180615 chr2 61523960 61523960 G A rs185706364 USP34 Nonsynonymous SNV A1410V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 32 180616 chr2 70045765 70045765 T C rs76176779 ANXA4 Synonymous SNV D221D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.384 180617 chr14 64449384 64449384 C T rs192061494 SYNE2 Nonsynonymous SNV H625Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 13.58 180618 chr2 7005287 7005287 C T rs367934466 CMPK2 Nonsynonymous SNV D181N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 180619 chr2 70528869 70528869 A T rs74577100 FAM136A Nonsynonymous SNV V92E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.939 180620 chr2 70933459 70933459 C T rs4986 ADD2 Nonsynonymous SNV D44N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 26.8 180621 chr11 117789423 117789423 G A rs199724994 TMPRSS13 Nonsynonymous SNV P51L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 180622 chr17 39023009 39023009 G T rs372927571 KRT12 Synonymous SNV R144R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.2 180623 chr2 71043728 71043728 T A rs78241995 CLEC4F Nonsynonymous SNV D262V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 180624 chr2 71046536 71046536 G A rs17006361 CLEC4F Synonymous SNV A73A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.504 180625 chr2 71188119 71188119 C T rs116139984 ATP6V1B1 Synonymous SNV D218D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.03 180626 chr14 65239429 65239429 C T rs143950158 SPTB Nonsynonymous SNV E1808K 0.003 0 0 0 4 0 0 0 0 0 0 0 33 180627 chr2 71360356 71360356 G A rs10175940 MPHOSPH10 Nonsynonymous SNV D140N 0 0 0.003 6 0 0 0.015 1 0 0 0 0 Benign 9.929 180628 chr2 73172214 73172214 T C rs73945645 SFXN5 Nonsynonymous SNV N253S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.005 180629 chr2 73172217 73172217 G C rs79275662 SFXN5 Nonsynonymous SNV P252R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.598 180630 chr2 73518735 73518735 A G rs35362064 EGR4 Synonymous SNV P437P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.218 180631 chr2 73675553 73675553 A G rs116033693 ALMS1 Synonymous SNV Q632Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.677 180632 chr2 73676189 73676189 C T rs77517267 ALMS1 Synonymous SNV D844D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.25 180633 chr2 73786157 73786157 G C rs34398445 ALMS1 Nonsynonymous SNV K3423N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 13.21 180634 chr2 73993593 73993593 G A rs116238730 DUSP11 Nonsynonymous SNV A296V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.948 180635 chr2 74043126 74043126 A C rs61015788 C2orf78 Nonsynonymous SNV K592N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 180636 chr2 74140616 74140616 C T rs34286914 ACTG2 Synonymous SNV I109I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.98 180637 chr2 74154160 74154160 C G rs145252858 DGUOK Synonymous SNV L41L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.13 180638 chr2 74274812 74274812 G A rs72816199 TET3 Nonsynonymous SNV V497M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.727 180639 chr2 74275174 74275174 C T rs73951129 TET3 Synonymous SNV L617L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.272 180640 chr2 74329087 74329087 G A rs79170439 TET3 Synonymous SNV Q1631Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.087 180641 chr2 74730314 74730314 - C rs150475363 LBX2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 180642 chr2 219736220 219736220 G C WNT6 Synonymous SNV T105T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.426 180643 chr2 219900232 219900232 C T rs150943971 CFAP65 Nonsynonymous SNV R106Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 180644 chr2 84670428 84670428 C G rs140441011 SUCLG1 Nonsynonymous SNV V100L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.9 180645 chr11 123848046 123848046 A G OR10S1 Nonsynonymous SNV F118S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 180646 chr2 84989993 84989993 G A rs1025900832 DNAH6 Nonsynonymous SNV V3543I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.258 180647 chr2 79386463 79386463 C T rs115863131 REG3A Synonymous SNV Q23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.064 180648 chr2 84908539 84908539 G A rs17025464 DNAH6 Nonsynonymous SNV S2268N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.553 180649 chr2 238283227 238283227 G A rs138426138 COL6A3 Synonymous SNV N562N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.269 180650 chr2 85533374 85533374 C T rs139080475 TCF7L1 Synonymous SNV H345H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.256 180651 chr2 85536255 85536255 G A rs114942542 TCF7L1 Synonymous SNV P479P 0 0 0.003 0 0 0 0 1 0 0 0 0 11 180652 chr2 85553932 85553932 G A rs185236913 TGOLN2 Nonsynonymous SNV P308L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 180653 chr2 85554287 85554287 T C rs76921212 TGOLN2 Nonsynonymous SNV K190E 0 0 0.007 0 0 0 0 2 0 0 0 0 12.57 180654 chr2 85663680 85663680 G A rs76432883 SH2D6 Nonsynonymous SNV C136Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 180655 chr2 85921552 85921552 G A rs10181739 GNLY Stop gain W4X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 180656 chr14 77732923 77732923 C T rs143417735 NGB Nonsynonymous SNV G138R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 22.7 180657 chr2 85981571 85981571 A C rs192626718 ATOH8 Synonymous SNV R87R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.125 180658 chr2 85981680 85981682 CGC - rs534719282 ATOH8 P130del 0.001 0 0.01 0 1 0 0 3 0 0 0 0 180659 chr2 86255162 86255162 G A rs138896884 POLR1A Synonymous SNV V1636V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.609 180660 chr2 86344204 86344204 C T rs369925870 PTCD3 Synonymous SNV S112S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 180661 chr14 77894719 77894719 G T rs145453157 VIPAS39 Nonsynonymous SNV S436R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.31 180662 chr2 9667930 9667930 T C rs2230818 ADAM17 Nonsynonymous SNV R202G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 10.41 180663 chr2 97543701 97543701 G A rs34013660 FAM178B Nonsynonymous SNV R104C 0 0 0.007 0 0 0 0 2 0 0 1 0 28.1 180664 chr2 98349454 98349454 C T rs56340622 ZAP70 Synonymous SNV P224P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.5 180665 chr2 99449387 99449387 C T rs61737030 KIAA1211L Nonsynonymous SNV A105T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 180666 chr3 100042467 100042467 C G rs62636639 TBC1D23 Synonymous SNV A670A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.71 180667 chr2 242192418 242192418 G A rs534502171 HDLBP Synonymous SNV I409I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.64 180668 chr3 100387898 100387898 T C rs114756702 ADGRG7 Synonymous SNV D400D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 180669 chr3 100544677 100544677 C G rs116139575 ABI3BP Nonsynonymous SNV D808H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.275 180670 chr3 10146268 10146268 A G rs60245764 FANCD2OS Nonsynonymous SNV L64P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 180671 chr3 10347312 10347312 G A rs34078590 SEC13 Nonsynonymous SNV S158L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 180672 chr3 105389119 105389119 T C rs35835913 CBLB Nonsynonymous SNV N530D 0 0 0.007 0 0 0 0 2 0 0 1 0 not provided 18.61 180673 chr3 107096750 107096750 G T rs61731427 CCDC54 Stop gain E106X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 180674 chr3 107492294 107492294 C T rs59781647 BBX Nonsynonymous SNV P576S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 180675 chr1 230371835 230371835 G A rs138909324 GALNT2 Synonymous SNV S112S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.07 180676 chr3 108072329 108072329 T G rs58233893 HHLA2 Nonsynonymous SNV I40M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 180677 chr3 108188968 108188968 T C MYH15 Nonsynonymous SNV E512G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 180678 chr3 108298447 108298447 G A rs77545973 CIP2A Nonsynonymous SNV S213F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.6 180679 chr3 108330071 108330071 A G rs77617763 DZIP3 Synonymous SNV L51L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.48 180680 chr1 2318922 2318922 G A rs374158545 MORN1 Synonymous SNV Y98Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.488 180681 chr14 95597877 95597877 T G rs1037879170 DICER1 Nonsynonymous SNV E136A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 180682 chr3 108635060 108635060 G A rs11917716 GUCA1C Nonsynonymous SNV A119V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 180683 chr3 108780895 108780895 T A rs79817474 MORC1 Synonymous SNV I302I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.77 180684 chr17 48560811 48560814 GGCA - rs745704331 RSAD1 G339Pfs*39 0.002 0 0 1 2 0 0.003 0 0 0 0 0 180685 chr17 48560817 48560819 CGG - rs771842970 RSAD1 R341del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 180686 chr17 48560822 48560833 GCGTGTCCCCCT - rs775285299 RSAD1 R343_L346del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 180687 chr17 48560836 48560836 G C rs754620883 RSAD1 Nonsynonymous SNV G347A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.96 180688 chr17 48560839 48560851 GGCTGGAGCTGTG - rs746459520 RSAD1 R348Sfs*28 0.002 0 0 1 2 0 0.003 0 0 0 0 0 180689 chr3 111451475 111451475 G A rs77085054 PLCXD2 Stop gain W292X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 180690 chr3 111681152 111681152 A G rs78952894 PHLDB2 Nonsynonymous SNV I981V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 180691 chr12 4920578 4920578 C A rs370794345 KCNA6 Synonymous SNV I457I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.45 180692 chr3 111799841 111799841 T C rs145755321 TMPRSS7 Synonymous SNV H688H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.37 180693 chr2 23785292 23785292 G A rs967941602 KLHL29 Nonsynonymous SNV G76S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 180694 chr3 112300052 112300052 C T rs61738676 SLC35A5 Nonsynonymous SNV A245V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 180695 chr3 112300113 112300113 C T rs61735902 SLC35A5 Nonsynonymous SNV T226M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.431 180696 chr3 112328836 112328836 G A rs56683778 CCDC80 Nonsynonymous SNV A805V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 180697 chr3 112358658 112358658 C T rs75074453 CCDC80 Nonsynonymous SNV S32N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.386 180698 chr1 236734770 236734770 T G rs143410468 HEATR1 Nonsynonymous SNV I1277L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.5 180699 chr17 56056607 56056607 C - rs746343850 VEZF1 Q348Hfs*9 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 180700 chr17 56056609 56056610 GC - rs775689252 VEZF1 Q348Afs*27 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 180701 chr3 113023898 113023898 C T rs62001862 CFAP44 Synonymous SNV P1620P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.01 180702 chr12 56739973 56739973 G A rs746480042 STAT2 Nonsynonymous SNV R687W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 180703 chr12 6952848 6952848 G - GNB3 D163Tfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 180704 chr12 56742818 56742818 G C rs138681270 STAT2 Nonsynonymous SNV P489R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 21.9 180705 chr3 113784141 113784141 C T rs566061138 QTRT2 Nonsynonymous SNV R25C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 180706 chr1 100356792 100356792 G A rs747215990 AGL Synonymous SNV L943L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.857 180707 chr14 104441810 104441810 T C rs764483040 TDRD9 Nonsynonymous SNV Y311H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.774 180708 chr12 57003964 57003964 T A rs2230580 BAZ2A Synonymous SNV R605R 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 3.946 180709 chr3 11606411 11606411 T C rs142388866 VGLL4 Nonsynonymous SNV M33V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 180710 chr3 119211217 119211217 T C rs114296047 POGLUT1 Nonsynonymous SNV S371P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 180711 chr3 11885562 11885562 T C rs368176339 TAMM41 Nonsynonymous SNV I87V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.052 180712 chr3 119246670 119246670 C T rs74934063 CD80 Nonsynonymous SNV R272K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.259 180713 chr3 119316792 119316792 G C rs189413985 PLA1A Nonsynonymous SNV W11S 0 0 0.003 0 0 0 0 1 0 0 0 0 21 180714 chr3 119347623 119347623 C A rs115172544 PLA1A Nonsynonymous SNV F226L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.687 180715 chr17 60814307 60814307 G A rs200801910 MARCHF10 Nonsynonymous SNV P308S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.143 180716 chr3 119466027 119466027 G A rs79850988 MAATS1 Synonymous SNV A530A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.06 180717 chr12 58125670 58125670 G A rs145277487 AGAP2 Synonymous SNV A625A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 180718 chr3 119887146 119887146 T C rs77125678 GPR156 Nonsynonymous SNV Y389C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.084 180719 chr17 61660941 61660941 G A rs772337548 DCAF7 Synonymous SNV R202R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 180720 chr2 242437091 242437091 G A rs138057538 STK25 Synonymous SNV P348P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.584 180721 chr3 121207258 121207258 A G rs35877350 POLQ Nonsynonymous SNV M1507T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 180722 chr3 119582295 119582295 G T GSK3B Nonsynonymous SNV T356K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 180723 chr3 121351314 121351314 - A rs776684026 HCLS1 Stop gain E332* 0 0 0.003 0 0 0 0 1 0 0 0 0 180724 chr3 121351315 121351315 - GCTCGGGCTCAGGCTCGGGCTCAGGCTCA HCLS1 Frameshift insertion N339Pfs*89 0 0 0.003 0 0 0 0 1 0 0 0 0 180725 chr3 121412902 121412902 T C rs61747466 GOLGB1 Synonymous SNV E2076E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 180726 chr3 121415329 121415329 T C rs61741198 GOLGB1 Synonymous SNV L1267L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.24 180727 chr3 121591616 121591616 C A rs115221306 EAF2 Synonymous SNV G109G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 180728 chr3 121641139 121641139 A G rs765146545 SLC15A2 Nonsynonymous SNV K226R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 180729 chr3 122255840 122255840 T C rs6780543 PARP9 Nonsynonymous SNV T651A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 180730 chr21 43519254 43519254 G A rs200027906 UMODL1 Nonsynonymous SNV G384R 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 180731 chr3 122354926 122354926 T C rs77585932 PARP15 Synonymous SNV Y369Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.859 180732 chr3 122869132 122869132 C T rs61996320 PDIA5 Synonymous SNV S398S 0 0 0.007 0 0 0 0 2 0 0 1 0 18.05 180733 chr3 123458811 123458811 G C rs55760507 MYLK Synonymous SNV S137S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.608 180734 chr17 67189745 67189746 TC - rs762985601 ABCA10 R510Nfs*16 0 0 0 1 0 0 0.003 0 0 0 0 0 180735 chr3 124174062 124174062 C T rs61747979 KALRN Synonymous SNV A1145A 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 16.37 180736 chr17 71410867 71410867 C T rs139471859 SDK2 Synonymous SNV A800A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.66 180737 chr3 125824719 125824719 C A rs72965956 ALDH1L1 Nonsynonymous SNV A734S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 32 180738 chr3 125899065 125899065 G T rs186354810 ALDH1L1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 180739 chr3 126737262 126737262 T C rs112490369 PLXNA1 Synonymous SNV A1262A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.809 180740 chr3 127399132 127399132 C T rs140791161 ABTB1 Synonymous SNV F275F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.473 180741 chr3 128181632 128181632 T G rs35948511 DNAJB8 Nonsynonymous SNV M153L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 180742 chr3 128526481 128526481 G A rs146566121 RAB7A Synonymous SNV A165A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.6 180743 chr2 63401820 63401820 T C rs61734468 WDPCP Nonsynonymous SNV N529S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 5.351 180744 chr3 128588543 128588543 T G rs532949131 LOC653712 0 0 0.003 0 0 0 0 1 0 0 0 0 8.294 180745 chr3 128664602 128664602 T C rs142904887 KIAA1257 Nonsynonymous SNV K233E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.787 180746 chr3 128780714 128780714 G A rs6069 GP9 Synonymous SNV T44T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign/Likely benign 7.044 180747 chr3 128984583 128984583 C T rs79239356 COPG1 Synonymous SNV Y472Y 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.831 180748 chr3 128991006 128991006 A C rs115693266 MIR6826 0 0 0.007 0 0 0 0 2 0 0 0 0 3.698 180749 chr3 129130145 129130145 C T rs374479457 EFCAB12 Synonymous SNV Q297Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.629 180750 chr3 129140589 129140589 G A rs58932597 EFCAB12 Nonsynonymous SNV P36L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 0.004 180751 chr3 129155463 129155463 A G rs2307289 MBD4 Nonsynonymous SNV S342P 0 0.003 0.01 2 0 1 0.005 3 0 0 1 0 8.557 180752 chr3 129270132 129270132 G A rs114156301 H1FOO Synonymous SNV L191L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.876 180753 chr3 12942758 12942760 GGC - rs137962390 IQSEC1 A1023del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 180754 chr3 130150704 130150704 A G rs61750883 COL6A5 Nonsynonymous SNV I1882V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 180755 chr3 130311931 130311931 C T rs115656707 COL6A6 Synonymous SNV D1466D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.174 180756 chr3 131101338 131101338 G A rs16836559 NUDT16 Stop gain W196X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 33 180757 chr3 132071602 132071602 T G rs116804987 ACPP Nonsynonymous SNV D268E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.905 180758 chr3 133306790 133306790 G A rs143704956 CDV3 Nonsynonymous SNV G124D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.8 180759 chr22 18300947 18300947 A C rs199672102 MICAL3 Nonsynonymous SNV W1494G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 180760 chr3 133526655 133526655 C T rs112398870 SRPRB Synonymous SNV V105V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 15.98 180761 chr3 133672549 133672549 C T rs141676845 SLCO2A1 Nonsynonymous SNV V228I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.4 180762 chr3 134322514 134322514 T C rs61745335 KY Synonymous SNV T615T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.046 180763 chr3 134967350 134967350 G A rs61736108 EPHB1 Nonsynonymous SNV V897M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 180764 chr3 135969355 135969355 G C rs145075817 PCCB Synonymous SNV A46A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.7 180765 chr3 13659649 13659649 G A rs61731210 FBLN2 Synonymous SNV P601P 0 0 0.007 0 0 0 0 2 0 0 0 0 5.263 180766 chr3 1371573 1371573 G T rs265771 CNTN6 Nonsynonymous SNV A336S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.841 180767 chr12 46764978 46764978 C T rs369071617 SLC38A2 Synonymous SNV K33K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 180768 chr3 137893509 137893509 C T rs72973072 DBR1 Synonymous SNV V43V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.85 180769 chr3 138023752 138023752 G T rs80092642 NME9 Nonsynonymous SNV R189S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.844 180770 chr3 134080567 134080567 A G rs113677766 AMOTL2 Synonymous SNV R512R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.645 180771 chr3 13543384 13543384 G A rs201586457 HDAC11 Nonsynonymous SNV R89H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 180772 chr3 138666277 138666277 A G rs60136395 FOXL2NB Nonsynonymous SNV K24R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.849 180773 chr3 140281768 140281768 G A rs35951028 CLSTN2 Synonymous SNV G776G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.58 180774 chr2 79255029 79255029 G A rs149243674 REG3G Nonsynonymous SNV G98S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.7 180775 chr3 141006162 141006162 G A rs34601454 PXYLP1 Synonymous SNV P124P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 180776 chr3 14105552 14105552 G A rs9862102 TPRXL 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.942 180777 chr3 141327438 141327438 A T rs61750362 RASA2 Nonsynonymous SNV Q709H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 12.85 180778 chr17 76556912 76556912 G A rs754837443 DNAH17 Synonymous SNV G647G 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 7.909 180779 chr3 14200021 14200021 A G rs3731128 XPC Synonymous SNV D261D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.683 180780 chr3 142272757 142272757 T C rs55895932 ATR Synonymous SNV E750E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.328 180781 chr3 143567018 143567018 C T rs115966881 SLC9A9 Synonymous SNV L49L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.83 180782 chr12 49498662 49498662 C T LMBR1L Synonymous SNV E66E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.09 180783 chr1 36941066 36941066 G A rs946993363 CSF3R Synonymous SNV H91H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.783 180784 chr3 148789127 148789127 T C rs114322607 HLTF Nonsynonymous SNV D269G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.43 180785 chr3 148802613 148802613 G A rs75483592 HLTF Synonymous SNV L28L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12 180786 chr15 51040914 51040914 C T SPPL2A Nonsynonymous SNV A111T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 180787 chr3 148930285 148930285 G T rs73866999 CP Nonsynonymous SNV P116H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 180788 chr2 69746142 69746142 C G rs76509206 AAK1 Nonsynonymous SNV A481P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.919 180789 chr2 70047833 70047833 C T rs144975182 ANXA4 Synonymous SNV G262G 0.003 0 0 0 3 0 0 0 0 0 0 0 15.1 180790 chr3 15079583 15079583 G A rs2230443 NR2C2 Synonymous SNV A483A 0.003 0 0.007 0 4 0 0 2 0 0 1 0 8.425 180791 chr2 70514498 70514498 G A rs117513249 SNRPG Synonymous SNV N62N 0.003 0 0 0 3 0 0 0 0 0 0 0 8.371 180792 chr1 38512309 38512311 GCC - rs759795723 POU3F1 A37del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 180793 chr3 151165778 151165778 A G rs151226002 IGSF10 Nonsynonymous SNV M664T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 180794 chr3 151171516 151171516 G A rs35953658 IGSF10 Nonsynonymous SNV T124I 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign 25 180795 chr3 151542533 151542533 G A rs35084477 AADAC Nonsynonymous SNV V172I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.761 180796 chr3 152880560 152880560 C T rs61730110 RAP2B Synonymous SNV G26G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.01 180797 chr17 78857637 78857637 G A rs7210571 RPTOR Synonymous SNV P569P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.023 180798 chr12 52452499 52452499 G A rs753351427 NR4A1 Nonsynonymous SNV R523Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.1 180799 chr3 154010399 154010399 T C rs16823848 DHX36 Synonymous SNV T571T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.27 180800 chr3 154024079 154024079 C T rs2048395 DHX36 Synonymous SNV A273A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 180801 chr3 150176316 150176316 C A rs149526922 TSC22D2 Nonsynonymous SNV P722T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.95 180802 chr3 155203711 155203711 A T rs114360585 PLCH1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 7.823 180803 chr2 71655736 71655736 G A rs748844658 ZNF638 Nonsynonymous SNV V1869M 0.003 0 0 0 3 0 0 0 0 0 0 0 2.868 180804 chr3 155203960 155203960 T A rs73011560 PLCH1 Synonymous SNV I873I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.22 180805 chr3 155481440 155481440 T G rs113890115 C3orf33 Nonsynonymous SNV S251R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.96 180806 chr3 155481693 155481693 G A rs115731681 C3orf33 Synonymous SNV S166S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 180807 chr3 155632299 155632299 G A rs73011200 GMPS Synonymous SNV T326T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 180808 chr3 155838488 155838488 G C rs67167156 KCNAB1 Nonsynonymous SNV G30R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.85 180809 chr3 15605014 15605014 C T rs75831568 HACL1 Nonsynonymous SNV E437K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 180810 chr22 30977043 30977043 C G rs979338334 PES1 Nonsynonymous SNV A290P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.31 180811 chr22 31283621 31283621 G A rs200287904 LOC107985544 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.806 180812 chr2 74754170 74754170 G A rs201648655 AUP1 Nonsynonymous SNV P365L 0.003 0 0 0 3 0 0 0 0 0 0 0 16.41 180813 chr3 159744608 159744608 A G rs61743969 LINC01100 0 0 0.041 0 0 0 0 12 0 0 1 0 3.583 180814 chr3 159744609 159744609 C T rs61743970 LINC01100 0 0 0.041 0 0 0 0 12 0 0 1 0 4.013 180815 chr3 156763352 156763352 T C rs757692258 LEKR1 Nonsynonymous SNV I631T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.113 180816 chr3 161216996 161216996 G C rs9846788 OTOL1 Synonymous SNV G134G 0 0 0.01 0 0 0 0 3 0 0 0 0 7.812 180817 chr3 156763462 156763462 A G rs766916892 LEKR1 Nonsynonymous SNV R668G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 180818 chr3 164785246 164785246 G C rs146960446 SI Nonsynonymous SNV P173A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.3 180819 chr3 167045891 167045891 G A rs79619538 ZBBX Nonsynonymous SNV T234M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 180820 chr3 167167126 167167126 A G rs61750372 SERPINI2 Synonymous SNV G343G 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 14.18 180821 chr3 167747643 167747643 T C rs61743912 GOLIM4 Nonsynonymous SNV Q425R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.821 180822 chr3 167747659 167747659 C G rs62637708 GOLIM4 Nonsynonymous SNV E420Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.501 180823 chr3 169540184 169540184 A G rs16854411 LRRIQ4 Nonsynonymous SNV K159E 0 0 0.007 0 0 0 0 2 0 0 0 0 18.42 180824 chr3 169896684 169896684 C T rs16854873 PHC3 Synonymous SNV P7P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.15 180825 chr3 170078470 170078470 G A rs148615745 SKIL Synonymous SNV S117S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.7 180826 chr3 170425874 170425874 T C rs75572450 SLC7A14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 180827 chr3 17056301 17056301 C T rs146363731 PLCL2 Synonymous SNV N846N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 180828 chr12 129373185 129373185 C A GLT1D1 Synonymous SNV G31G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.726 180829 chr15 65943265 65943265 C T rs117685425 SLC24A1 Synonymous SNV P253P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.48 180830 chr3 175189480 175189480 T G rs80191780 NAALADL2 Nonsynonymous SNV S529R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 180831 chr3 175520958 175520958 T C rs113131191 NAALADL2 Synonymous SNV D785D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 180832 chr18 6977785 6977785 T C LAMA1 Nonsynonymous SNV S2096G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 180833 chr3 180378402 180378402 G C rs57838737 CCDC39 Nonsynonymous SNV L158V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 10.75 180834 chr3 180466073 180466073 A G rs73053861 LOC101928882 0.006 0.005 0.017 0 7 2 0 5 0 0 1 0 2.838 180835 chr3 183017822 183017822 A T rs149581227 MCF2L2 Nonsynonymous SNV S426T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 180836 chr3 113165507 113165507 C A SPICE1 Nonsynonymous SNV G815C 0.003 0 0 0 3 0 0 0 0 0 0 0 28.2 180837 chr3 183217607 183217607 C T rs7611412 KLHL6 Synonymous SNV S306S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 180838 chr3 183226270 183226270 G A rs116766487 KLHL6 Synonymous SNV A162A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 180839 chr3 113442303 113442303 T C rs34769551 NAA50 Synonymous SNV L76L 0.008 0 0 0 9 0 0 0 0 0 0 0 8.378 180840 chr3 183696387 183696387 G A rs1053386 ABCC5 Synonymous SNV S400S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.46 180841 chr2 99189330 99189330 G C rs61748144 INPP4A Synonymous SNV L807L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 9.974 180842 chr22 41928680 41928680 C T rs754589228 POLR3H Nonsynonymous SNV S93N 0.006 0 0 2 7 0 0.005 0 0 0 0 0 23 180843 chr3 183824398 183824398 G A rs13324468 HTR3E Nonsynonymous SNV A456T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.481 180844 chr12 55524008 55524008 C T rs139097998 OR9K2 Synonymous SNV C152C 0.003 0.008 0 0 4 3 0 0 0 0 0 0 8.234 180845 chr3 183959482 183959482 T A rs61736691 VWA5B2 Nonsynonymous SNV S911T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.117 180846 chr3 100530102 100530102 A G rs202228433 ABI3BP Synonymous SNV Y1037Y 0.003 0 0 0 3 0 0 0 0 0 0 0 14.79 180847 chr3 183963000 183963000 A G rs2233464 ALG3 Synonymous SNV G149G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.89 180848 chr3 183967500 183967500 A C rs2233461 EEF1AKMT4, EEF1AKMT4-ECE2 Synonymous SNV A6A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.185 180849 chr1 158627464 158627464 C T rs140291959 SPTA1 Nonsynonymous SNV V870M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 28.5 180850 chr15 75660845 75660849 GTAAA - rs760253802 MAN2C1 F26Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 180851 chr3 10291271 10291271 T G rs373299416 TATDN2 Synonymous SNV S129S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.03 180852 chr3 184910042 184910042 A G rs11927618 EHHADH Nonsynonymous SNV L619S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.4 180853 chr3 185191071 185191071 G C rs115576657 MAP3K13 Nonsynonymous SNV S444T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.793 180854 chr3 185369933 185369933 G A rs147590133 IGF2BP2 Synonymous SNV D364D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 180855 chr12 56822694 56822694 C A rs151045363 TIMELESS Nonsynonymous SNV R425L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 180856 chr3 186370207 186370207 T C rs139374439 FETUB Synonymous SNV D247D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.015 180857 chr12 57601965 57601965 G A rs969670124 LRP1 Nonsynonymous SNV E4002K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 29.9 180858 chr18 21044555 21044555 T C rs772144872 RIOK3 Nonsynonymous SNV V153A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.03 180859 chr1 60491105 60491105 G A rs147855127 C1orf87 Synonymous SNV N365N 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 11.08 180860 chr3 186504175 186504175 G A rs73886079 SNORA63B 0 0 0.003 0 0 0 0 1 0 0 0 0 2.719 180861 chr3 190993043 190993043 C T rs150179146 UTS2B Nonsynonymous SNV R111Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 180862 chr3 193372687 193372687 A G rs73069703 OPA1 Synonymous SNV V592V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.441 180863 chr3 193385047 193385047 C T rs35540805 OPA1 Synonymous SNV R896R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.34 180864 chr12 66935707 66935707 C T rs199768740 GRIP1 Nonsynonymous SNV V54I 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 180865 chr3 194081611 194081611 G A rs147943295 LRRC15 Synonymous SNV N54N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.709 180866 chr3 194369474 194369474 C T rs59999692 LSG1 Synonymous SNV T493T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.97 180867 chr3 194407651 194407651 C T rs73890205 FAM43A Synonymous SNV Y32Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 180868 chr3 194407717 194407717 C T rs78486386 FAM43A Synonymous SNV F54F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 180869 chr3 195013159 195013161 AGA - rs779594914 ACAP2 S596del 0 0 0.003 0 0 0 0 1 0 0 0 0 180870 chr3 195426368 195426368 - C rs371424483 MIR570 0 0 0.003 0 0 0 0 1 0 0 0 0 180871 chr12 72070692 72070692 G A rs769285316 THAP2 Nonsynonymous SNV R164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 180872 chr3 195605440 195605440 C T rs151330438 TNK2 Synonymous SNV E370E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 180873 chr3 195638506 195638506 C T rs2086358 TNK2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.589 180874 chr3 195791240 195791240 C T rs41295879 TFRC Nonsynonymous SNV G138S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.851 180875 chr3 195944764 195944764 C T rs34352044 SLC51A Synonymous SNV S30S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.46 180876 chr2 100022421 100022421 C A rs3087396 REV1 Nonsynonymous SNV S920I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.6 180877 chr3 196743993 196743993 C T rs61729249 MELTF Nonsynonymous SNV R294Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 22.8 180878 chr3 196842831 196842831 A G rs79212676 DLG1 Synonymous SNV S387S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 6.279 180879 chr3 197427696 197427696 C T rs61746427 RUBCN Nonsynonymous SNV S290N 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Benign 15.98 180880 chr1 169821135 169821135 C T rs16862714 C1orf112 Nonsynonymous SNV L866F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.433 180881 chr18 48723076 48723076 G A rs891923302 MEX3C Synonymous SNV Y205Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.305 180882 chr3 197659051 197659051 A G rs116780041 IQCG Nonsynonymous SNV I213T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 180883 chr3 25666266 25666266 T C rs79628592 TOP2B Synonymous SNV L746L 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 10.99 180884 chr2 101607291 101607291 G A rs58728948 NPAS2 Nonsynonymous SNV A690T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 20.3 180885 chr13 48807588 48807588 C A rs150336652 ITM2B Nonsynonymous SNV P31H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.7 180886 chr2 101666919 101666919 A T rs151200078 TBC1D8 Nonsynonymous SNV D257E 0.003 0 0.01 0 3 0 0 3 0 0 0 0 23.9 180887 chr1 7797598 7797598 A G rs149753840 CAMTA1 Nonsynonymous SNV K252R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.3 180888 chr2 101706816 101706816 G T rs76282769 TBC1D8 Synonymous SNV V46V 0.003 0 0.01 0 4 0 0 3 0 0 0 0 12.31 180889 chr3 30032697 30032697 - TAAG rs142239095 RBMS3 Stop gain P419* 0 0 0.003 0 0 0 0 1 0 0 0 0 180890 chr2 102626187 102626187 G A rs2230401 IL1R2 Synonymous SNV T77T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.707 180891 chr3 30903220 30903220 C T GADL1 Synonymous SNV K25K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 180892 chr3 33055705 33055705 C T rs147332381 GLB1 Nonsynonymous SNV G395D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 4.824 180893 chr2 103095387 103095387 G A rs17027275 SLC9A4 Nonsynonymous SNV G116S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.2 180894 chr3 33195356 33195356 C T rs61742346 SUSD5 Synonymous SNV G256G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.601 180895 chr3 33134734 33134734 - CCA rs777009615 TMPPE G318_S319insG 0 0.003 0 0 0 1 0 0 0 0 0 0 180896 chr2 103095548 103095548 C T rs61731288 SLC9A4 Synonymous SNV N169N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.78 180897 chr2 103136337 103136337 A G rs6742280 SLC9A4 Nonsynonymous SNV I581V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.14 180898 chr3 35723282 35723282 G C ARPP21 Nonsynonymous SNV E13D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 180899 chr3 133329920 133329920 T C rs779755916 TOPBP1 Synonymous SNV Q1362Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.521 180900 chr3 36887854 36887854 T C rs114259181 TRANK1 Synonymous SNV T1648T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 4.841 180901 chr3 37845391 37845391 G A rs57272224 ITGA9 Synonymous SNV V989V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.41 180902 chr3 38357175 38357175 C T rs112460819 SLC22A14 Nonsynonymous SNV T502I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 180903 chr3 38407198 38407198 A C rs2234611 XYLB Nonsynonymous SNV S23R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 180904 chr3 38593015 38593015 G A rs41315495 SCN5A Synonymous SNV F1598F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 8.319 180905 chr3 38645378 38645378 G A rs36210423 SCN5A Nonsynonymous SNV A572V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.82 180906 chr3 38645379 38645379 C A rs184442491 SCN5A Nonsynonymous SNV A572S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.96 180907 chr3 3888429 3888429 A C rs34611357 LRRN1 Nonsynonymous SNV T702P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.297 180908 chr3 3887219 3887219 C T rs147930432 LRRN1 Synonymous SNV G298G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.98 180909 chr13 100622841 100622841 C T ZIC5 Synonymous SNV P363P 0.002 0 0 0 2 0 0 0 1 0 0 0 10.05 180910 chr3 42567419 42567419 G A rs34664814 VIPR1 Synonymous SNV T64T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.49 180911 chr3 42700546 42700546 G A rs114198569 ZBTB47 Synonymous SNV Q233Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.048 180912 chr18 74637323 74637323 A G rs779902122 ZNF236 Synonymous SNV P1280P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.727 180913 chr2 120020894 120020894 G A rs200886089 STEAP3 Nonsynonymous SNV E483K 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 23.2 180914 chr3 43618719 43618719 A G rs61742945 ANO10 Synonymous SNV A98A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.394 180915 chr1 915048 915048 G A rs527439217 PERM1 Synonymous SNV A454A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.088 180916 chr3 4459777 4459777 C T rs141017221 SUMF1 Synonymous SNV A189A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.47 180917 chr3 45152071 45152071 C T rs12634943 CDCP1 Synonymous SNV A306A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.07 180918 chr3 45435967 45435967 T C rs77377258 LARS2 Synonymous SNV L8L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.099 180919 chr19 757560 757560 A G rs138591209 MISP Nonsynonymous SNV Q205R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 180920 chr3 46009620 46009620 C T rs34147726 FYCO1 Synonymous SNV E402E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.789 180921 chr3 46009763 46009763 G A rs35937665 FYCO1 Nonsynonymous SNV R355W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.89 180922 chr2 128380806 128380806 C T rs779728741 MYO7B Synonymous SNV I1199I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.46 180923 chr3 46401290 46401290 G A rs3918387 CCR2 Nonsynonymous SNV G355E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 180924 chr3 46449729 46449729 C T rs192800752 CCRL2 Synonymous SNV V65V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 180925 chr3 44943295 44943295 G A rs147739675 TGM4 Synonymous SNV A281A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.215 180926 chr1 19486626 19486626 C T rs757200634 UBR4 Synonymous SNV V1852V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.49 180927 chr3 4703816 4703816 G A rs34252981 ITPR1 Synonymous SNV P419P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 1.056 180928 chr3 47048629 47048629 G T rs200904954 NBEAL2 Nonsynonymous SNV G2369V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 180929 chr3 160141605 160141605 G C rs773319063 SMC4 Nonsynonymous SNV V768L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.08 180930 chr3 160474444 160474444 C G rs146777298 PPM1L Synonymous SNV A116A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.11 180931 chr3 47619025 47619025 G C rs35863063 CSPG5 Nonsynonymous SNV A26G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.002 180932 chr3 47882517 47882517 A G rs115678925 DHX30 Nonsynonymous SNV I173V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 180933 chr3 48416919 48416919 G A rs72923500 FBXW12 Nonsynonymous SNV S102N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 180934 chr3 48451449 48451449 G A rs61729211 PLXNB1 Synonymous SNV I1881I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 180935 chr3 48452317 48452317 C G rs35741089 PLXNB1 Synonymous SNV V1792V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 180936 chr3 48474086 48474086 T C rs61743626 CCDC51 Nonsynonymous SNV Q323R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.28 180937 chr3 48476407 48476407 G A rs61746705 CCDC51 Synonymous SNV P44P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.579 180938 chr3 48508252 48508252 G A rs3135943 TREX1 Synonymous SNV K56K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.315 180939 chr3 48508516 48508516 T C rs3135944 TREX1 Synonymous SNV D144D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.073 180940 chr3 48508966 48508966 G A rs3135945 TREX1 Synonymous SNV L294L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.173 180941 chr3 48538619 48538619 G A rs34083419 SHISA5 Synonymous SNV L62L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.432 180942 chr3 47168144 47168146 TTC - SETD2 E27del 0 0.003 0 0 0 1 0 0 0 0 0 0 180943 chr3 49151428 49151428 C T rs58998762 USP19 Synonymous SNV A718A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.75 180944 chr3 49154326 49154326 G A rs61744082 USP19 Synonymous SNV C204C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.145 180945 chr3 49322012 49322012 G A rs9843982 USP4 Synonymous SNV Y712Y 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 5.464 180946 chr3 47629769 47629769 G A rs373378309 SMARCC1 Nonsynonymous SNV P1083L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 180947 chr3 49449925 49449925 C T rs140184270 TCTA Synonymous SNV G22G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 180948 chr3 49690784 49690784 G A rs35025593 BSN Synonymous SNV Q1265Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.283 180949 chr3 49720730 49720730 C T rs34834894 APEH Synonymous SNV S718S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.88 180950 chr3 49897965 49897965 T G rs140497968 CAMKV Synonymous SNV R265R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.496 180951 chr2 149227766 149227766 A G rs147455836 MBD5 Nonsynonymous SNV I752V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.524 180952 chr3 5021511 5021511 G C rs73106063 BHLHE40-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.986 180953 chr3 50311900 50311900 C T rs2071203 SEMA3B Nonsynonymous SNV T72I 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 12.47 180954 chr3 50323942 50323942 G A rs928946 LSMEM2 Synonymous SNV G33G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.603 180955 chr3 50326020 50326020 G A rs2229647 IFRD2 Synonymous SNV H446H 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 10.94 180956 chr3 50327429 50327429 A G rs2071205 IFRD2 Synonymous SNV F223F 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 4.05 180957 chr3 50334231 50334231 T A rs2269432 NAA80 Nonsynonymous SNV R222W 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 9.074 180958 chr12 123687307 123687307 C A rs189088477 MPHOSPH9 Nonsynonymous SNV V549F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 180959 chr3 50355730 50355730 T G rs35455589 HYAL2 Nonsynonymous SNV I418L 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 9.254 180960 chr3 49167274 49167274 C T rs572289637 LAMB2 Nonsynonymous SNV R468Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.317 180961 chr3 50378176 50378176 T G rs4688725 RASSF1 Nonsynonymous SNV K21Q 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 4.345 180962 chr12 123950726 123950726 A G SNRNP35 Synonymous SNV E213E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.983 180963 chr3 149470055 149470055 C G rs375191073 COMMD2 Synonymous SNV R29R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 180964 chr3 51737995 51737995 T C rs61737032 TEX264 Nonsynonymous SNV L228P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.051 180965 chr3 51743034 51743034 T C rs75461739 GRM2 Nonsynonymous SNV L12P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.43 180966 chr3 183368626 183368626 A G KLHL24 Nonsynonymous SNV E161G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.39 180967 chr16 3063787 3063787 G A rs775867692 CLDN9 Nonsynonymous SNV A142T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 180968 chr3 52727765 52727767 AGG - rs111396798 GNL3 E483del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 180969 chr16 3100075 3100075 G A MMP25 Nonsynonymous SNV G100R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 180970 chr3 50327691 50327691 G A rs782601507 IFRD2 Nonsynonymous SNV R164C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 180971 chr3 52842597 52842597 C T rs2710329 ITIH3 Nonsynonymous SNV A858V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 180972 chr3 52850999 52850999 A G rs2535621 ITIH4 Nonsynonymous SNV L761P 0.002 0.008 0.014 0 2 3 0 4 0 0 0 0 3.449 180973 chr3 53736797 53736797 G A rs35434249 CACNA1D Synonymous SNV P450P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.978 180974 chr20 19955466 19955466 A T rs201551000 RIN2 Nonsynonymous SNV N266I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 25.1 180975 chr3 57496570 57496570 C T rs6778837 DNAH12 Nonsynonymous SNV S139N 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 13.84 180976 chr3 58134535 58134535 G A rs137885421 FLNB Nonsynonymous SNV R1992Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 180977 chr3 58303636 58303636 A C rs79991831 HTD2 Nonsynonymous SNV K99T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 180978 chr3 58817602 58817602 C T rs35510108 C3orf67 Nonsynonymous SNV R607Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 180979 chr3 59999799 59999799 C T rs73842465 FHIT Synonymous SNV T5T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 180980 chr3 62180753 62180753 T C rs7650104 PTPRG Synonymous SNV H412H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 5.911 180981 chr3 62739395 62739395 G A rs35975017 CADPS Synonymous SNV S203S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.471 180982 chr3 63600962 63600962 C T rs190213928 SYNPR Synonymous SNV T201T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 180983 chr3 63808994 63808994 G C rs548626468 C3orf49 Nonsynonymous SNV S65T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 180984 chr3 63898390 63898390 - GCAGCAGCC rs770364745 ATXN7 Q39_P40insQQP 0 0 0.003 0 0 0 0 1 0 0 0 0 180985 chr3 64617162 64617162 G C rs145243531 ADAMTS9 Nonsynonymous SNV F758L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 180986 chr16 4941887 4941887 G A rs79367056 PPL Synonymous SNV H631H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.079 180987 chr3 66431279 66431279 C A rs147184597 LRIG1 Nonsynonymous SNV G926V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23 180988 chr3 66433458 66433458 G A rs34042409 LRIG1 Synonymous SNV C813C 0 0 0.007 0 0 0 0 2 0 0 0 0 12.11 180989 chr16 5083436 5083436 G A rs759090418 NAGPA Nonsynonymous SNV A127V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 180990 chr3 54959184 54959184 C T rs143700577 LRTM1 Synonymous SNV P22P 0 0.005 0 0 0 2 0 0 0 0 0 0 11.71 180991 chr3 58112384 58112384 A G rs779310027 FLNB Nonsynonymous SNV I1373V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 180992 chr3 73673024 73673024 A G rs13321704 PDZRN3-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 8.467 180993 chr3 74351863 74351863 A T rs75253024 CNTN3 Synonymous SNV S588S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.824 180994 chr3 74419065 74419065 T C rs62620465 CNTN3 Nonsynonymous SNV K246E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.1 180995 chr3 7620343 7620343 C T rs80099685 GRM7 Synonymous SNV L584L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.872 180996 chr3 78695321 78695321 G A rs115350736 ROBO1 Synonymous SNV G908G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.88 180997 chr3 81586149 81586149 G A rs2229520 GBE1 Synonymous SNV D572D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.969 180998 chr16 11272535 11272535 C T rs74163632 CLEC16A Synonymous SNV T1050T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.458 180999 chr3 58490992 58490992 A G ACOX2 Nonsynonymous SNV Y669H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 181000 chr3 8787263 8787263 G A rs72546667 CAV3 Nonsynonymous SNV G56S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 29.4 181001 chr3 89521644 89521644 T C rs73846185 EPHA3 Synonymous SNV N907N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.04 181002 chr3 66434573 66434573 G A rs199575726 LRIG1 Nonsynonymous SNV T638M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 181003 chr3 69077390 69077390 G T rs767336034 TMF1 Nonsynonymous SNV T887K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 181004 chr3 9796508 9796508 G A rs1805373 OGG1 Nonsynonymous SNV R229Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 181005 chr13 32912036 32912037 TT - rs80359388 BRCA2 Stop gain F1182* 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 181006 chr3 98110306 98110306 G C rs73854831 OR5K3 Nonsynonymous SNV G266A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 181007 chr3 78689000 78689000 T C ROBO1 Synonymous SNV A932A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 181008 chr3 9911950 9911950 A G rs143400572 CIDEC Synonymous SNV D14D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.48 181009 chr3 8977664 8977664 T C RAD18 Synonymous SNV L260L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.161 181010 chr16 20386219 20386219 C T rs750454993 PDILT Synonymous SNV T202T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 181011 chr14 52977961 52977961 C T TXNDC16 Synonymous SNV L246L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.63 181012 chr14 53237806 53237806 G A STYX Synonymous SNV A218A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.838 181013 chr4 100235194 100235194 G A rs28626993 ADH1B Synonymous SNV V204V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.864 181014 chr4 100572243 100572243 G T rs79538034 C4orf54 Nonsynonymous SNV P1188Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 181015 chr4 102751029 102751029 A G rs17031677 BANK1 Synonymous SNV T15T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.005 181016 chr4 103952869 103952869 G C rs72943528 SLC9B2 Nonsynonymous SNV P358A 0.004 0.003 0.02 0 5 1 0 6 0 0 0 0 Benign 15.32 181017 chr4 10445884 10445884 C T rs76605416 ZNF518B Nonsynonymous SNV R690H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.48 181018 chr4 106566478 106566478 G C rs17036063 ARHGEF38 Nonsynonymous SNV D270H 0 0 0.007 0 0 0 0 2 0 0 1 0 25.7 181019 chr4 106640387 106640387 G A rs61736387 GSTCD Synonymous SNV K199K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 181020 chr1 225477659 225477659 C T rs976988963 DNAH14 Stop gain R2782X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 36 181021 chr4 106924827 106924827 A G rs72958889 LOC101929577 0 0 0.007 2 0 0 0.005 2 0 0 0 0 3.055 181022 chr4 107151587 107151587 A G rs56312801 TBCK Synonymous SNV C506C 0 0 0.007 2 0 0 0.005 2 0 0 0 0 5.986 181023 chr4 107249358 107249358 A G rs2230255 AIMP1 Nonsynonymous SNV T117A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 0.155 181024 chr4 107279499 107279499 C T rs72878581 GIMD1 Synonymous SNV E165E 0 0 0.007 2 0 0 0.005 2 0 0 0 0 4.165 181025 chr4 109670496 109670496 T C rs72895028 ETNPPL Synonymous SNV T217T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.665 181026 chr4 109780843 109780843 T C rs72897032 COL25A1 Nonsynonymous SNV D411G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22 181027 chr4 110615839 110615839 C T rs5030674 CASP6 Nonsynonymous SNV A20T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.29 181028 chr1 227071472 227071472 G A rs139972151 PSEN2 Nonsynonymous SNV G70R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 22 181029 chr4 111539638 111539638 A C rs35946364 PITX2 Synonymous SNV S206S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 0.007 181030 chr4 119036064 119036064 C T rs370770497 NDST3 Synonymous SNV H391H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 181031 chr4 119951088 119951088 T G rs61745559 SYNPO2 Synonymous SNV A386A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.15 181032 chr4 119953101 119953101 A C rs61733552 SYNPO2 Synonymous SNV P1057P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.004 181033 chr4 119979001 119979001 T C rs17050126 SYNPO2 Nonsynonymous SNV M1202T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 4.144 181034 chr4 120225490 120225490 G A rs115125596 C4orf3 Synonymous SNV H37H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.459 181035 chr4 120419776 120419776 C T rs61729962 PDE5A Nonsynonymous SNV G870S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 181036 chr4 123107363 123107363 A G rs146460818 KIAA1109 Synonymous SNV Q177Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.037 181037 chr2 203836320 203836320 C A CARF Nonsynonymous SNV S53Y 0.006 0.003 0 0 7 1 0 0 0 0 0 0 23.9 181038 chr4 123249462 123249462 A C rs115275370 KIAA1109 Nonsynonymous SNV E3733D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.93 181039 chr4 123844377 123844377 G C rs35430470 SPATA5 Nonsynonymous SNV C27S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 181040 chr20 55206392 55206392 T C rs752234358 TFAP2C Synonymous SNV F60F 0.003 0.008 0 0 3 3 0 0 0 0 0 0 1.073 181041 chr4 126336596 126336596 A G rs75942329 FAT4 Nonsynonymous SNV K2160E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.23 181042 chr3 44826358 44826358 T C rs138953056 KIF15 Nonsynonymous SNV F128S 0.001 0 0 6 1 0 0.015 0 0 0 0 0 29 181043 chr20 57428948 57428948 G C rs61749696 GNAS Nonsynonymous SNV R147S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.003 181044 chr2 207564560 207564560 G C DYTN Nonsynonymous SNV P204A 0.005 0 0 0 6 0 0 0 0 0 0 0 24.5 181045 chr1 231472537 231472537 C G rs144793875 EXOC8 Nonsynonymous SNV E319Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.766 181046 chr4 13548524 13548524 T C rs76050566 LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 5.595 181047 chr4 13579081 13579081 C T rs28538279 BOD1L1 Nonsynonymous SNV V2944M 0 0 0.007 0 0 0 0 2 0 0 0 0 9.247 181048 chr4 13604117 13604117 T G rs61995955 BOD1L1 Synonymous SNV I1469I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.213 181049 chr2 20870475 20870475 G A rs201836157 GDF7 Nonsynonymous SNV D215N 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 24.1 181050 chr4 122728748 122728748 T G rs200764818 EXOSC9 Nonsynonymous SNV I192M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 181051 chr4 140188079 140188079 T C rs35809233 MGARP Nonsynonymous SNV I133V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 181052 chr4 140811567 140811567 G A rs61736201 MAML3 Synonymous SNV F341F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.683 181053 chr4 141055543 141055543 C T rs73857943 LOC101927516 0 0 0.007 0 0 0 0 2 0 0 0 0 8.649 181054 chr4 141212618 141212618 T A rs11938800 SCOC-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.3 181055 chr4 141488970 141488970 G T rs1022868625 UCP1 Stop gain Y96X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 181056 chr4 141677107 141677107 G T rs377024153 TBC1D9 Synonymous SNV G31G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.45 181057 chr20 60640232 60640232 G A rs201112070 TAF4 Nonsynonymous SNV A212V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.51 181058 chr4 145580003 145580003 G C rs146535482 HHIP Nonsynonymous SNV L178F 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 181059 chr4 145580866 145580866 G A rs61730970 HHIP Nonsynonymous SNV G236E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.8 181060 chr4 147860980 147860980 G A rs61741876 TTC29 Nonsynonymous SNV P23L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 20.6 181061 chr4 148968113 148968113 C T rs149853025 ARHGAP10 Synonymous SNV P646P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.02 181062 chr4 149181236 149181236 T C rs34905604 NR3C2 Synonymous SNV S597S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.383 181063 chr4 151772006 151772006 C T rs34678304 LRBA Nonsynonymous SNV V1292I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.39 181064 chr4 151773173 151773173 C T rs34708681 LRBA Nonsynonymous SNV G1230D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 181065 chr4 152069075 152069075 A G rs72965663 SH3D19 Nonsynonymous SNV M378T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 12.24 181066 chr20 6096544 6096544 C T rs146184803 FERMT1 Nonsynonymous SNV R100H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 181067 chr4 153809342 153809342 C T rs76726136 ARFIP1 Synonymous SNV D251D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 181068 chr4 154600796 154600796 C T rs80201299 LOC100419170 0 0 0.007 0 0 0 0 2 0 0 0 0 7.701 181069 chr4 15482904 15482904 G A rs28662094 CC2D2A Nonsynonymous SNV G111R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.304 181070 chr4 155155914 155155914 G A rs61746111 DCHS2 Nonsynonymous SNV P3297L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 181071 chr4 155157531 155157531 C T rs6824133 DCHS2 Nonsynonymous SNV S2758N 0.001 0 0.014 0 1 0 0 4 0 0 0 0 0.001 181072 chr16 58032051 58032051 G A rs140221275 ZNF319 Nonsynonymous SNV T40M 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 181073 chr4 155225951 155225951 G A rs115999956 DCHS2 Synonymous SNV H1825H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.992 181074 chr4 155250701 155250701 G C rs79295524 DCHS2 Nonsynonymous SNV L1298V 0.003 0 0.017 0 3 0 0 5 0 0 0 0 0.003 181075 chr4 155253684 155253684 G A rs141064025 DCHS2 Synonymous SNV L1226L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.4 181076 chr2 219029268 219029268 C T rs372901871 CXCR1 Nonsynonymous SNV G223R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 25 181077 chr4 155412012 155412012 G A rs17031725 DCHS2 Nonsynonymous SNV R166C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.6 181078 chr4 155487652 155487652 T C rs6055 FGB Synonymous SNV C106C 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 5.502 181079 chr4 156135250 156135250 C T rs2342674 NPY2R Synonymous SNV L53L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.63 181080 chr2 219266320 219266320 G A rs762615334 CTDSP1 Nonsynonymous SNV R34Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.8 181081 chr16 67860465 67860465 G C TSNAXIP1 Nonsynonymous SNV Q121H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.7 181082 chr4 156715220 156715220 A T rs377482701 GUCY1B1 Synonymous SNV I168I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 181083 chr4 15709253 15709253 A G rs75054170 BST1 Synonymous SNV R145R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.477 181084 chr4 16215415 16215415 C T rs6823469 TAPT1 Synonymous SNV L102L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.72 181085 chr4 166259056 166259056 A G rs34499452 MSMO1 Nonsynonymous SNV N124S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.02 181086 chr3 46245736 46245736 C T rs760444180 CCR1 Synonymous SNV P23P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.658 181087 chr4 166795123 166795123 G C rs72984287 TLL1 Nonsynonymous SNV G23R 0.002 0.008 0.01 0 2 3 0 3 0 0 1 0 3.327 181088 chr3 52955803 52955803 C T rs764408228 SFMBT1 Synonymous SNV A392A 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 14.22 181089 chr4 169201736 169201736 G C rs34147422 DDX60 Synonymous SNV T576T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.902 181090 chr4 169322087 169322087 G A rs28450372 DDX60L Synonymous SNV C1127C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.717 181091 chr4 169611765 169611765 C T rs17054482 PALLD Synonymous SNV N67N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.816 181092 chr4 170043313 170043313 C T rs58906071 SH3RF1 Synonymous SNV P428P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 181093 chr4 170912685 170912685 T C rs61740817 MFAP3L Synonymous SNV E255E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 181094 chr4 172107395 172107395 C T rs28570267 MIR6082 0 0 0.007 0 0 0 0 2 0 0 0 0 1.087 181095 chr4 172107419 172107419 C A rs28393763 MIR6082 0 0 0.007 0 0 0 0 2 0 0 0 0 4.164 181096 chr14 100166421 100166421 C A CYP46A1 Nonsynonymous SNV D142E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 181097 chr4 173269788 173269788 C T rs116264453 GALNTL6 Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 181098 chr4 15690561 15690561 C G rs577833555 FAM200B Nonsynonymous SNV A654G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.87 181099 chr3 47894356 47894356 G A rs375614055 MAP4 Nonsynonymous SNV R1112C 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 19.43 181100 chr3 57545340 57545340 A G PDE12 Nonsynonymous SNV H480R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.27 181101 chr4 183675618 183675618 A G rs10006205 TENM3 Synonymous SNV L1366L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.867 181102 chr3 58368361 58368361 A G PXK Nonsynonymous SNV I75V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.67 181103 chr4 185580557 185580557 A G rs74696256 PRIMPOL Nonsynonymous SNV T82A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25.5 181104 chr21 31802631 31802631 G A rs79061358 KRTAP13-4 Nonsynonymous SNV R13H 0.001 0.008 0.007 1 1 3 0.003 2 0 0 0 0 5.853 181105 chr4 186573817 186573817 C T rs61732192 SORBS2 Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.74 181106 chr14 23635735 23635735 A G SLC7A8 Nonsynonymous SNV S56P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 181107 chr3 69087994 69087994 T C rs749261735 TMF1 Nonsynonymous SNV K668R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.66 181108 chr14 105455352 105455352 G A rs753644884 CLBA1 Nonsynonymous SNV V166I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 181109 chr4 20512746 20512746 C T rs73108675 SLIT2 Synonymous SNV R352R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 13.99 181110 chr4 20570548 20570548 A G rs35693154 SLIT2 Synonymous SNV E999E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.996 181111 chr16 82182429 82182429 G A MPHOSPH6 Synonymous SNV A130A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 181112 chr4 22415234 22415234 G A rs113497728 ADGRA3 Synonymous SNV L671L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.28 181113 chr4 177713326 177713326 T A rs55728985 VEGFC Nonsynonymous SNV E47V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 181114 chr14 24709624 24709624 C T TINF2, TINF2 Synonymous SNV E354E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 181115 chr19 17330492 17330492 C T rs201057224 USE1 Nonsynonymous SNV T217M 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 22.7 181116 chr4 24801152 24801152 G C rs17882667 SOD3 Synonymous SNV A3A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.16 181117 chr3 52715724 52715724 G A rs900502106 PBRM1 Nonsynonymous SNV A12V 0.003 0 0 0 3 0 0 0 0 0 0 0 15.44 181118 chr4 25789903 25789903 G A rs61749463 SEL1L3 Synonymous SNV G685G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 181119 chr4 30723087 30723087 T C rs61192205 PCDH7 Synonymous SNV L15L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.133 181120 chr21 39672182 39672182 T C KCNJ15 Synonymous SNV I333I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.553 181121 chr4 3162034 3162034 C T rs34315806 HTT Nonsynonymous SNV T1260M 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 181122 chr14 30133042 30133042 T G PRKD1 Synonymous SNV R187R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 181123 chr4 3251012 3251012 C T rs59959641 MSANTD1 Synonymous SNV S21S 0 0 0.003 0 0 0 0 1 0 0 0 0 6 181124 chr4 3318199 3318199 G A rs75169970 RGS12 Nonsynonymous SNV R101H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 181125 chr4 3449330 3449330 G A rs16844398 HGFAC Synonymous SNV S489S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.212 181126 chr15 32929649 32929649 C A ARHGAP11A Nonsynonymous SNV S703Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.406 181127 chr3 57326133 57326133 C T rs917733400 ASB14 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 181128 chr19 17766826 17766826 C T rs376388424 UNC13A Synonymous SNV G383G 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 13.63 181129 chr16 85689371 85689371 G A rs761579964 GSE1 Synonymous SNV P175P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 181130 chr4 37445383 37445383 G A rs114887066 NWD2 Synonymous SNV K591K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.704 181131 chr4 37446820 37446820 C T rs115443539 NWD2 Synonymous SNV H1070H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.633 181132 chr4 38053562 38053562 T C rs188959191 TBC1D1 Synonymous SNV G651G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.946 181133 chr4 38775405 38775405 G A rs11466659 TLR10 Synonymous SNV L603L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.409 181134 chr4 38776942 38776942 T C rs11466648 TLR10 Synonymous SNV K90K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 181135 chr4 38800101 38800101 G A rs5743612 TLR1 Nonsynonymous SNV H118Y 0 0 0.007 0 0 0 0 2 0 0 0 0 1.459 181136 chr4 38830234 38830234 T C rs5743812 TLR6 Synonymous SNV T287T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.05 181137 chr19 18321896 18321896 G A rs929451280 PDE4C Nonsynonymous SNV T430I 0 0 0 3 0 0 0.008 0 0 0 0 0 23.4 181138 chr4 38830514 38830514 A G rs5743809 TLR6 Nonsynonymous SNV L194P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.15 181139 chr4 38933869 38933869 C T rs36058104 FAM114A1 Nonsynonymous SNV S239L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.4 181140 chr4 38995541 38995541 C G TMEM156 Nonsynonymous SNV A146P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 181141 chr4 39088341 39088341 A C rs35141484 KLHL5 Synonymous SNV A354A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.752 181142 chr4 39408595 39408595 C A rs10003369 KLB Nonsynonymous SNV S9Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 181143 chr4 40123028 40123028 T C rs151139696 N4BP2 Synonymous SNV F1099F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.543 181144 chr4 40810623 40810623 G A rs2465576 NSUN7 Synonymous SNV K608K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.053 181145 chr14 50100374 50100374 C T rs2985688 DNAAF2 Synonymous SNV S498S 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.77 181146 chr4 41628877 41628877 C T rs115179404 LIMCH1 Nonsynonymous SNV A293V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.685 181147 chr4 4283537 4283537 G A rs73091404 LYAR Synonymous SNV G70G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 181148 chr1 32196506 32196506 C T rs41311144 ADGRB2 Synonymous SNV P1392P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14 181149 chr2 241534626 241534626 C T rs138959181 CAPN10 Nonsynonymous SNV R395W 0.003 0 0 0 4 0 0 0 0 0 0 0 30 181150 chr4 47565738 47565738 C T rs28403254 ATP10D Synonymous SNV L937L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 181151 chr14 51352526 51352526 C T rs202134253 ABHD12B Nonsynonymous SNV T115I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 181152 chr4 48038082 48038082 G A rs114576498 NIPAL1 Nonsynonymous SNV V376I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 181153 chr15 41827094 41827094 C T RPAP1 Nonsynonymous SNV G194D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 181154 chr4 48097180 48097180 G T rs34518985 TXK Synonymous SNV S187S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12.05 181155 chr4 494188 494188 C A rs28454778 PIGG Nonsynonymous SNV A53D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 14.08 181156 chr4 52740535 52740535 A G DCUN1D4 Nonsynonymous SNV K79E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 181157 chr4 37962478 37962478 G C PTTG2 Nonsynonymous SNV L141F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 181158 chr4 53611484 53611484 C T rs61731313 ERVMER34-1 Stop gain W68X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 181159 chr4 55604639 55604639 C T rs56288823 KIT Synonymous SNV P949P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.26 181160 chr4 56877646 56877646 C T CEP135 Synonymous SNV Y858Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 181161 chr16 89865580 89865580 C G rs878853667 FANCA Nonsynonymous SNV R264T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.769 181162 chr4 57204917 57204917 G A rs746925401 AASDH Nonsynonymous SNV P498L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 181163 chr4 57377374 57377374 G T rs749116994 ARL9 Synonymous SNV V101V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 181164 chr4 57397286 57397286 C G rs375714112 THEGL Synonymous SNV P148P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 181165 chr4 57462793 57462793 G A rs114411813 THEGL Nonsynonymous SNV R368H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 181166 chr4 57469460 57469460 T C rs115350220 THEGL Nonsynonymous SNV W457R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.082 181167 chr4 57797982 57797982 C A rs113136533 REST Synonymous SNV S986S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 181168 chr4 100805273 100805273 A G rs199789066 LAMTOR3 Nonsynonymous SNV F76L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 181169 chr4 57798311 57798311 A G REST Nonsynonymous SNV Q1096R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 181170 chr4 57843291 57843291 C G rs11553076 NOA1 Nonsynonymous SNV G154A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 181171 chr4 57843300 57843300 T C rs11553075 NOA1 Nonsynonymous SNV Q151R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.223 181172 chr4 128905494 128905494 A G rs533207215 ABHD18 Synonymous SNV R31R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 181173 chr4 57887084 57887084 C T rs2228127 POLR2B Synonymous SNV A706A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 181174 chr4 5925054 5925054 G A rs28645567 MIR378D1 0 0 0.017 0 0 0 0 5 0 0 0 0 0.989 181175 chr17 1670219 1670219 G T rs139841572 SERPINF1 Synonymous SNV V5V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 6.64 181176 chr4 619538 619538 G A rs113459274 PDE6B Synonymous SNV P41P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.372 181177 chr4 619558 619558 G A rs113842820 PDE6B Nonsynonymous SNV R48Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.64 181178 chr4 6303327 6303327 C T rs2230720 WFS1 Nonsynonymous SNV A602V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.001 181179 chr17 3195207 3195207 C T rs142082644 OR3A1 Nonsynonymous SNV V224M 0.003 0 0.007 0 3 0 0 2 0 0 0 0 24.6 181180 chr4 71554691 71554693 GGA - rs146575538 UTP3 E105del 0 0 0.003 0 0 0 0 1 0 0 0 0 181181 chr4 71691900 71691900 G A rs114589323 GRSF1 Synonymous SNV L238L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.281 181182 chr4 73012709 73012709 T C rs61733659 NPFFR2 Nonsynonymous SNV V250A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24.1 181183 chr4 7312222 7312222 C T rs114771990 MIR4798 0 0 0.003 0 0 0 0 1 0 0 0 0 3.047 181184 chr1 45798117 45798117 C T rs140342925 MUTYH Nonsynonymous SNV R102H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 33 181185 chr19 37879380 37879380 G A rs754915502 ZNF527 Synonymous SNV A143A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.723 181186 chr4 76811175 76811175 G A rs28436183 PPEF2 Nonsynonymous SNV R118C 0 0 0.007 0 0 0 0 2 0 0 0 0 31 181187 chr4 156698677 156698677 T A rs200168603 GUCY1B1 Nonsynonymous SNV N60K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.74 181188 chr4 76842157 76842157 C T rs61736789 NAAA Synonymous SNV T262T 0 0 0.014 1 0 0 0.003 4 0 0 1 0 Benign 10.5 181189 chr4 76842269 76842269 C T rs61735952 NAAA Nonsynonymous SNV S225N 0 0 0.014 1 0 0 0.003 4 0 0 1 0 8.724 181190 chr4 76842275 76842275 G A rs61735953 NAAA Nonsynonymous SNV T223I 0 0 0.014 1 0 0 0.003 4 0 0 1 0 24.1 181191 chr1 46650270 46650270 T C rs145702144 TSPAN1 Nonsynonymous SNV F90S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 181192 chr17 4575278 4575283 GGTTCA - rs745599970 PELP1 E1002_P1003del 0.001 0 0 0 1 0 0 0 0 0 0 0 181193 chr4 77053803 77053803 C T rs59645599 NUP54 Synonymous SNV T212T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.35 181194 chr4 77089557 77089557 C T rs2228380 SCARB2 Nonsynonymous SNV V253I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.397 181195 chr4 77102168 77102168 C T rs73826386 SCARB2 Nonsynonymous SNV R121Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.9 181196 chr4 7717020 7717020 C T rs16840899 SORCS2 Nonsynonymous SNV T745I 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 23.3 181197 chr22 24210743 24210743 A G rs144757871 SLC2A11 Nonsynonymous SNV M66V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.093 181198 chr4 77476809 77476809 T C rs75039400 SHROOM3 Synonymous SNV A72A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.475 181199 chr4 77660550 77660550 T C rs61745983 SHROOM3 Synonymous SNV D408D 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.061 181200 chr4 77816666 77816666 A G rs78372520 SOWAHB Synonymous SNV Y779Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 181201 chr4 79353749 79353749 T C rs35608396 FRAS1 Synonymous SNV L1736L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.124 181202 chr1 48703514 48703514 G C rs144046578 SLC5A9 Nonsynonymous SNV E486Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 181203 chr4 79394702 79394702 G A rs4388111 FRAS1 Nonsynonymous SNV D2545N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 21.2 181204 chr4 79430139 79430139 A G rs61741742 FRAS1 Synonymous SNV P3253P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.17 181205 chr15 66790002 66790002 T G rs779213875 SNAPC5 Nonsynonymous SNV H23P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 181206 chr4 79442730 79442730 A G rs144715071 FRAS1 Nonsynonymous SNV I3532V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 181207 chr4 79461844 79461844 A G rs145035489 FRAS1 Nonsynonymous SNV I3869V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.464 181208 chr4 79461957 79461957 T C rs142389362 FRAS1 Synonymous SNV I3906I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 181209 chr4 79461963 79461963 T C rs151307846 FRAS1 Synonymous SNV S3908S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 181210 chr4 79462146 79462146 C G rs140492803 FRAS1 Nonsynonymous SNV H3969Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 181211 chr4 79494382 79494382 G A rs148328676 ANXA3 Nonsynonymous SNV V22M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.877 181212 chr4 7968803 7968803 C T rs57633755 ABLIM2 Nonsynonymous SNV E319K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 181213 chr4 79772190 79772190 G A rs55782848 BMP2K Nonsynonymous SNV R288H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.337 181214 chr1 53793508 53793508 - GCC rs759395062 LRP8 Q25_L26insR 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 181215 chr1 53793511 53793511 T A rs4926972 LRP8 Nonsynonymous SNV Q25L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.048 181216 chr22 26860762 26860762 A T rs139107954 HPS4 Nonsynonymous SNV D273E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.001 181217 chr4 170327888 170327888 G A rs1008903576 NEK1 Nonsynonymous SNV T981I 0.003 0 0 0 3 0 0 0 0 0 0 0 31 181218 chr4 80952835 80952835 C T rs113707133 ANTXR2 Nonsynonymous SNV V270I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.94 181219 chr4 170483300 170483300 C T rs17055010 NEK1 Synonymous SNV R356R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 14.4 181220 chr4 8214553 8214553 G A rs202092857 SH3TC1 Nonsynonymous SNV G49R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 181221 chr4 8237255 8237255 G A rs57688695 SH3TC1 Synonymous SNV E1050E 0 0.003 0.007 0 0 1 0 2 0 0 1 0 10.96 181222 chr4 83719593 83719593 G A rs142842178 SCD5 Nonsynonymous SNV P33L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.762 181223 chr15 72690682 72690682 A T TMEM202 Nonsynonymous SNV E5D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 181224 chr4 84350870 84350870 A G rs59255439 HELQ Synonymous SNV H708H 0.003 0.008 0.007 2 3 3 0.005 2 0 0 1 0 0.267 181225 chr4 84361071 84361071 G A rs6817280 HELQ Nonsynonymous SNV P518S 0.002 0.008 0.007 2 2 3 0.005 2 0 0 1 0 22.4 181226 chr22 30857400 30857400 C G rs367543382 SEC14L3 Nonsynonymous SNV E326D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 181227 chr4 84374692 84374692 A G rs17006837 HELQ Nonsynonymous SNV L235P 0.006 0.01 0.01 2 7 4 0.005 3 0 0 1 0 0.497 181228 chr4 8477682 8477682 C T rs34867053 TRMT44 Nonsynonymous SNV A502V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 181229 chr4 8583033 8583033 G A rs74597662 GPR78 Synonymous SNV V108V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.245 181230 chr2 60689205 60689205 C T rs937109015 BCL11A Nonsynonymous SNV R247H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 181231 chr4 86921812 86921812 G A rs34088236 ARHGAP24 Synonymous SNV T535T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.02 181232 chr4 871501 871501 C T rs35964990 GAK Synonymous SNV P507P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 9.666 181233 chr4 87653594 87653594 A G rs201078979 PTPN13 Synonymous SNV P550P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 181234 chr2 64113644 64113644 T C rs367846320 UGP2 Nonsynonymous SNV I337T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 181235 chr4 87696623 87696623 C T rs148059206 PTPN13 Synonymous SNV S1712S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 181236 chr4 87968165 87968165 C A rs61734711 AFF1 Nonsynonymous SNV P153T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.983 181237 chr4 88099735 88099735 A G rs61734703 KLHL8 Synonymous SNV G147G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.367 181238 chr19 41930487 41930487 T A rs137852870 BCKDHA Nonsynonymous SNV Y438N 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 28.2 181239 chr2 68358552 68358552 T C rs147103603 WDR92 Nonsynonymous SNV K298E 0.006 0.003 0 0 7 1 0 0 0 0 0 0 19.55 181240 chr14 92959928 92959928 G A rs776707919 SLC24A4 Nonsynonymous SNV V609I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 181241 chr4 89052964 89052964 G A rs2231139 ABCG2 Synonymous SNV Y123Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.78 181242 chr2 69379327 69379327 C T rs138571613 ANTXR1 Synonymous SNV A326A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 18.65 181243 chr4 89311883 89311883 G A rs60722298 HERC6 Synonymous SNV P172P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.7 181244 chr4 89345031 89345031 G A rs61734924 HERC6 Nonsynonymous SNV R578Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.71 181245 chr4 89383308 89383308 A G rs61755702 HERC5 Synonymous SNV G163G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 181246 chr4 89577131 89577131 A T rs73841608 HERC3 Synonymous SNV P220P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.398 181247 chr19 44039570 44039570 T G rs773361553 ZNF575 Nonsynonymous SNV C157G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 181248 chr4 89618396 89618396 G C rs140784758 NAP1L5 Nonsynonymous SNV D170E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.03 181249 chr17 8013533 8013533 C T ALOXE3 Stop gain W393X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 181250 chr4 89618447 89618447 G A rs75738204 NAP1L5 Synonymous SNV D153D 0 0 0.007 0 0 0 0 2 0 0 1 0 8.362 181251 chr4 89708948 89708948 G C rs114882619 FAM13A Synonymous SNV R55R 0 0 0.007 0 0 0 0 2 0 0 1 0 3.289 181252 chr4 90035274 90035274 A C rs142464444 TIGD2 Nonsynonymous SNV K383N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 181253 chr4 90170237 90170237 G T rs28647517 GPRIN3 Nonsynonymous SNV A342E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.4 181254 chr4 90856975 90856975 G A rs79266841 MMRN1 Nonsynonymous SNV R715K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 181255 chr4 985372 985372 C T rs36084010 SLC26A1 Synonymous SNV S40S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 14.04 181256 chr2 71825814 71825814 C T rs150942486 DYSF Nonsynonymous SNV P1200L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 22.2 181257 chr4 99055517 99055517 T C rs79134677 STPG2 Nonsynonymous SNV Y68C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 181258 chr4 99982441 99982441 A G rs79876289 METAP1 Synonymous SNV A378A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.305 181259 chr5 10239353 10239353 C T rs10066513 ATPSCKMT Synonymous SNV V44V 0.001 0 0.007 3 1 0 0.008 2 0 0 1 0 7.647 181260 chr22 38531069 38531069 T C PLA2G6 Nonsynonymous SNV M48V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.21 181261 chr5 102526673 102526673 C T rs34190293 PPIP5K2 Synonymous SNV T1042T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 181262 chr5 107716560 107716560 G A rs565260379 FBXL17 Nonsynonymous SNV A278V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.8 181263 chr1 67450533 67450533 G A MIER1 Nonsynonymous SNV E497K 0.001 0 0 4 1 0 0.01 0 0 0 0 0 25.2 181264 chr5 109049221 109049221 G A rs139275194 MAN2A1 Nonsynonymous SNV G46S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 181265 chr5 109756330 109756330 T C rs17132110 TMEM232 Nonsynonymous SNV H642R 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.177 181266 chr5 109756435 109756435 C T rs61743145 TMEM232 Nonsynonymous SNV R607Q 0 0 0.007 0 0 0 0 2 0 0 1 0 7.935 181267 chr5 109963482 109963482 C T rs148599774 TMEM232 Nonsynonymous SNV A201T 0 0 0.007 0 0 0 0 2 0 0 1 0 26.6 181268 chr5 110432841 110432841 T C rs17132775 WDR36 Synonymous SNV Y141Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.701 181269 chr4 8588950 8588950 C T rs61746144 GPR78 Nonsynonymous SNV R318C 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 23 181270 chr5 110820116 110820116 T G rs6886469 CAMK4 Synonymous SNV A261A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.195 181271 chr5 111479472 111479472 A G rs59486872 EPB41L4A X709R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.068 181272 chr1 70779451 70779451 A T ANKRD13C Nonsynonymous SNV L229H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 181273 chr14 102471438 102471438 G T rs149395439 DYNC1H1 Synonymous SNV L1766L 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign/Likely benign 5.884 181274 chr5 111755408 111755408 A G rs13354202 EPB41L4A-DT 0 0 0.01 0 0 0 0 3 0 0 0 0 1.303 181275 chr5 111755690 111755690 C T rs13358734 EPB41L4A-DT 0 0 0.017 0 0 0 0 5 0 0 0 0 13.64 181276 chr5 112178995 112178995 A G rs35043160 APC Synonymous SNV G2550G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.309 181277 chr5 112479054 112479054 C T rs202120785 MCC Nonsynonymous SNV E59K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 181278 chr5 115141151 115141151 C T rs34916121 CDO1 Synonymous SNV S193S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 181279 chr22 43539085 43539085 G C MCAT Synonymous SNV L90L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.69 181280 chr4 2940474 2940474 A G rs142706593 NOP14-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.543 181281 chr5 115827506 115827506 G A rs34096390 SEMA6A Synonymous SNV F155F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.06 181282 chr5 121356411 121356411 A G rs141787544 SRFBP1 Synonymous SNV R327R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 181283 chr5 121515339 121515339 T - rs553417891 LOC100505841 L43Rfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 181284 chr5 1216751 1216751 C T rs115133359 SLC6A19 Synonymous SNV Y322Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.907 181285 chr5 1221428 1221428 C T rs139211708 SLC6A19 Synonymous SNV Y567Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.008 181286 chr5 122435404 122435404 G A rs577588569 PRDM6 Synonymous SNV L216L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 181287 chr5 1232445 1232445 C T rs10055742 SLC6A18 Nonsynonymous SNV T91M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.445 181288 chr4 98902403 98902403 T C rs76740552 STPG2 Nonsynonymous SNV K227E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.062 181289 chr4 99273635 99273635 C A rs61758756 RAP1GDS1 Synonymous SNV R83R 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 Benign 19.12 181290 chr5 126113479 126113479 C T rs74362780 LMNB1 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.6 181291 chr17 19463786 19463786 G T rs754347087 SLC47A1 Synonymous SNV G362G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.957 181292 chr5 126874743 126874743 A G rs13436719 PRRC1 Synonymous SNV E311E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.17 181293 chr19 46891812 46891812 C T rs369752579 PPP5C Synonymous SNV N371N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.042 181294 chr17 19643665 19643665 G A rs144805447 ALDH3A1 Synonymous SNV A311A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 7.749 181295 chr2 96688879 96688879 G A rs766585992 GPAT2 Nonsynonymous SNV S711F 0.003 0 0 0 3 0 0 0 0 0 0 0 7.008 181296 chr17 19770647 19770647 G A rs200274686 ULK2 Synonymous SNV H28H 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 9.482 181297 chr5 128362864 128362864 A C rs35186587 SLC27A6 Nonsynonymous SNV N432H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 181298 chr5 128797149 128797149 C T rs563241485 ADAMTS19 Nonsynonymous SNV P149L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 181299 chr15 22846918 22846918 G A TUBGCP5 Nonsynonymous SNV V265I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 181300 chr5 131606664 131606664 T C rs113380082 PDLIM4 Synonymous SNV D128D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.844 181301 chr5 131931320 131931320 C T rs34147298 RAD50 Synonymous SNV D675D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 14.74 181302 chr5 112177273 112177273 C A APC Nonsynonymous SNV D1976E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.336 181303 chr5 132083470 132083470 G A rs6897725 CCNI2 Nonsynonymous SNV A95T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.469 181304 chr5 133644137 133644137 C A rs114357647 CDKL3 Nonsynonymous SNV K57N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 181305 chr5 133900192 133900192 C T rs34150573 JADE2 Synonymous SNV I287I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 181306 chr4 41607914 41607914 T C rs754245526 LIMCH1 Synonymous SNV L127L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.903 181307 chr5 134074448 134074448 G C rs146867024 CAMLG Synonymous SNV R46R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.823 181308 chr5 134076821 134076821 G T rs138554602 CAMLG Nonsynonymous SNV V81F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 181309 chr5 134573280 134573280 C G rs111456980 C5orf66-AS2 0 0 0.007 0 0 0 0 2 0 0 0 0 2.913 181310 chr5 134989614 134989614 T C rs73283274 SLC25A48-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.5 181311 chr5 135396589 135396589 G A rs200201691 TGFBI Nonsynonymous SNV V624M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 181312 chr5 135551901 135551901 G A rs184057936 TRPC7 Synonymous SNV D686D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.697 181313 chr5 1363829 1363829 G A rs115188008 LINC01511 0 0 0.003 0 0 0 0 1 0 0 0 0 4.472 181314 chr5 121786673 121786673 A G rs139256839 SNCAIP Nonsynonymous SNV M307V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 181315 chr5 121799261 121799261 C G rs149180835 SNCAIP Synonymous SNV L601L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.37 181316 chr5 13759051 13759051 C T rs149133845 DNAH5 Nonsynonymous SNV M3441I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 181317 chr5 13759080 13759080 C A rs143251588 DNAH5 Nonsynonymous SNV V3432L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.1 181318 chr5 137756630 137756630 G T rs144228142 KDM3B Synonymous SNV P1317P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.07 181319 chr4 48533326 48533326 C T rs186366787 FRYL Synonymous SNV V2250V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.24 181320 chr5 137892221 137892221 C T rs566717208 HSPA9 Nonsynonymous SNV E628K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 181321 chr5 13841017 13841017 G A rs7719896 DNAH5 Synonymous SNV L1903L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.76 181322 chr5 139928823 139928823 C T rs801461 EIF4EBP3 Synonymous SNV D93D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.14 181323 chr5 140048792 140048792 C A rs35080423 WDR55 Synonymous SNV T263T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 181324 chr5 140166271 140166271 C A rs143918125 PCDHA1 Synonymous SNV V132V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.678 181325 chr16 625886 625886 C T rs771310546 PIGQ Nonsynonymous SNV T246M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.2 181326 chr5 140175461 140175461 T A rs73791786 PCDHA2 Synonymous SNV T304T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.831 181327 chr19 49793501 49793501 A C rs756661983 SLC6A16 Nonsynonymous SNV M697R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.28 181328 chr5 134116831 134116831 G C rs144571062 DDX46 Synonymous SNV G258G 0.001 0.003 0.017 0 1 1 0 5 0 0 0 0 6.392 181329 chr5 140237094 140237094 C G rs60872775 PCDHA10 Synonymous SNV A487A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.762 181330 chr2 102644854 102644854 A G IL1R2 X399W 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 19.28 181331 chr5 140237826 140237826 G C rs180990865 PCDHA10 Synonymous SNV G731G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.143 181332 chr5 140256275 140256275 G A rs73793508 PCDHA12 Synonymous SNV S406S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.557 181333 chr5 140307951 140307951 C T rs73793524 PCDHAC1 Nonsynonymous SNV P492S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.331 181334 chr5 140475514 140475514 C A rs73793576 PCDHB2 Nonsynonymous SNV N380K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 181335 chr5 140530534 140530534 G C rs10076554 PCDHB6 Nonsynonymous SNV L232F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 181336 chr17 35562703 35562703 C A rs750729427 ACACA Nonsynonymous SNV M1249I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 181337 chr5 140562756 140562756 C G rs28398442 PCDHB16 Nonsynonymous SNV L208V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 181338 chr5 140603248 140603248 G A rs7713000 PCDHB14 Synonymous SNV E57E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.138 181339 chr5 140603794 140603794 C T rs59600730 PCDHB14 Synonymous SNV A239A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 181340 chr5 140614252 140614252 T G rs6891066 PCDHB18P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.373 181341 chr5 140627509 140627509 A G rs80263204 PCDHB15 Synonymous SNV X788X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.402 181342 chr5 140720543 140720543 C T rs61749024 PCDHGA2 Nonsynonymous SNV P669S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 181343 chr17 36666377 36666377 G T rs563514191 ARHGAP23 Synonymous SNV G1215G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.668 181344 chr17 36705391 36705391 C A rs141617960 SRCIN1 Synonymous SNV P1006P 0.003 0 0 0 3 0 0 0 0 0 0 0 19.79 181345 chr5 140724472 140724472 T C rs766713915 PCDHGA3 Nonsynonymous SNV I291T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 181346 chr19 50939285 50939285 C T rs373047872 MYBPC2 Synonymous SNV V71V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.379 181347 chr5 140734811 140734811 A G rs200737190 PCDHGA4 Nonsynonymous SNV Q46R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 181348 chr5 140755800 140755800 A G rs2159258 PCDHGA6 Nonsynonymous SNV Q717R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 181349 chr5 140763182 140763182 C T rs17097251 PCDHGA7 Nonsynonymous SNV T239M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 181350 chr2 113343561 113343561 C T rs751457352 CHCHD5 Synonymous SNV L5L 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 8.6 181351 chr5 141005593 141005593 C T rs73794947 HDAC3 Synonymous SNV E169E 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 Benign 15.66 181352 chr5 141027573 141027573 C T rs201272947 FCHSD1 Nonsynonymous SNV D223N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 181353 chr5 141243189 141243189 C T rs75190873 PCDH1 Nonsynonymous SNV G524S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.932 181354 chr5 141318162 141318162 G A rs61739701 DELE1 Synonymous SNV L462L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 181355 chr5 141324955 141324955 - CTGCTGCTGCTG rs5871792 PCDH12 S1181_R1182insSSSS 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 181356 chr4 73935193 73935193 C A rs377697467 COX18 Nonsynonymous SNV W95L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.2 181357 chr5 1420801 1420801 G A rs6348 SLC6A3 Synonymous SNV A270A 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign 11.44 181358 chr5 145838844 145838844 C T rs115619679 TCERG1 Nonsynonymous SNV P279L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 21.4 181359 chr5 14693094 14693094 C G rs36111454 OTULIN Synonymous SNV L332L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.457 181360 chr4 76955947 76955947 T A rs61757197 CXCL11 Stop gain K94X 0.003 0 0 0 4 0 0 0 0 0 0 0 15.45 181361 chr5 147862818 147862818 C T rs34826744 HTR4 Nonsynonymous SNV C372Y 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 23.5 181362 chr16 3140009 3140009 C A ZSCAN10 Nonsynonymous SNV V82F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.332 181363 chr19 52725398 52725398 T C PPP2R1A Nonsynonymous SNV L343P 0 0 0 1 0 0 0.003 0 0 0 0 0 29 181364 chr5 148406604 148406604 G C rs73795753 SH3TC2 Nonsynonymous SNV N897K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.698 181365 chr5 145393493 145393493 C T rs149514957 SH3RF2 Nonsynonymous SNV R310W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 181366 chr5 149431398 149431398 T C rs61729995 HMGXB3 Synonymous SNV H1008H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 181367 chr5 149500535 149500535 G A rs143375423 PDGFRB Synonymous SNV I770I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.7 181368 chr16 3543865 3543865 G A rs200770058 C16orf90 Nonsynonymous SNV R175C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 181369 chr5 149589127 149589127 G A rs149152174 SLC6A7 Synonymous SNV T620T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 181370 chr17 39464249 39464249 G A rs1035954369 KRTAP16-1 Synonymous SNV I419I 0.002 0 0 0 2 0 0 0 0 0 0 0 4.073 181371 chr5 149998088 149998088 C G rs368466073 SYNPO Synonymous SNV T53T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.86 181372 chr5 149998282 149998282 C A rs375243664 SYNPO Nonsynonymous SNV T118K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.87 181373 chr5 150029572 150029572 G A rs765932707 SYNPO Nonsynonymous SNV E579K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 181374 chr5 150072821 150072821 G A rs116468833 RBM22 Synonymous SNV D320D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.865 181375 chr5 148386527 148386527 G A SH3TC2 Nonsynonymous SNV P1198S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 181376 chr5 150483158 150483158 A G rs36054034 ANXA6 Synonymous SNV Y613Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.709 181377 chr5 150496738 150496738 G T rs112943838 ANXA6 Nonsynonymous SNV H476N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 181378 chr4 8412005 8412005 C T rs369383568 ACOX3 Synonymous SNV A207A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 181379 chr5 150925848 150925848 G C rs138213541 FAT2 Nonsynonymous SNV L1614V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 181380 chr5 150935934 150935934 T C FAT2 Nonsynonymous SNV R1202G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 181381 chr15 64455133 64455133 A G rs890075179 PPIB Nonsynonymous SNV I18T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.8 181382 chr5 151055695 151055695 G A rs6874468 SPARC Nonsynonymous SNV P19S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 181383 chr5 151231140 151231140 C G rs76872663 GLRA1 Synonymous SNV R158R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.83 181384 chr5 153065811 153065811 C T rs77292199 GRIA1 Synonymous SNV N272N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 14.35 181385 chr16 9934814 9934814 C T GRIN2A Synonymous SNV V492V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 181386 chr3 133497453 133497453 C T TF Nonsynonymous SNV R569C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 33 181387 chr5 153795465 153795465 G A rs35405339 GALNT10 Synonymous SNV K542K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.25 181388 chr5 154270887 154270887 T C rs35194608 GEMIN5 Synonymous SNV Q1391Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.01 181389 chr5 156378666 156378666 G A rs61744066 TIMD4 Nonsynonymous SNV T179I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.7 181390 chr5 156378693 156378693 G T rs61743250 TIMD4 Nonsynonymous SNV T170K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24.3 181391 chr5 156589809 156589809 C T rs149717280 FAM71B Synonymous SNV R489R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 181392 chr19 54632502 54632502 G A rs760999883 PRPF31 Nonsynonymous SNV R406H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 181393 chr5 156746775 156746775 C T rs6885590 CYFIP2 Synonymous SNV I428I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.08 181394 chr17 40998017 40998018 TG - AOC2 S460Ifs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 181395 chr5 156810313 156810313 C T rs73307968 CYFIP2 Synonymous SNV A1025A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.11 181396 chr5 156895791 156895791 G A rs58332403 NIPAL4 Synonymous SNV T175T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.74 181397 chr5 156915410 156915410 C T rs11466802 ADAM19 Nonsynonymous SNV A805T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.4 181398 chr19 54664694 54664694 T C TMC4 Nonsynonymous SNV S638G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.576 181399 chr5 157065430 157065430 T G rs73306857 SOX30 Nonsynonymous SNV Q563P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.4 181400 chr5 159682585 159682585 G A rs78721637 CCNJL Synonymous SNV H238H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.971 181401 chr5 159833529 159833529 C T rs1862386 SLU7 Synonymous SNV E426E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.18 181402 chr5 160059298 160059298 C T rs76245030 ATP10B Synonymous SNV S486S 0 0 0.007 0 0 0 0 2 0 0 0 0 18.79 181403 chr17 42164790 42164790 C A rs908896078 HDAC5 Nonsynonymous SNV G626V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.57 181404 chr5 162896686 162896686 C T rs78114513 HMMR Nonsynonymous SNV R18W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 181405 chr5 163624 163624 T C rs115230008 PLEKHG4B Nonsynonymous SNV L1146P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 11.38 181406 chr5 16475199 16475199 C G rs61733811 RETREG1 Nonsynonymous SNV S241T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.603 181407 chr5 16701654 16701654 G A rs909212533 MYO10 Synonymous SNV I950I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 181408 chr5 169101345 169101345 C T rs35393134 DOCK2 Synonymous SNV Y122Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.82 181409 chr5 169805866 169805866 G A rs76348543 KCNMB1 Nonsynonymous SNV R140W 0 0 0.01 0 0 0 0 3 0 0 1 0 25.8 181410 chr5 170819953 170819953 C T rs146936311 NPM1 Synonymous SNV D67D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.1 181411 chr5 171217235 171217235 C T rs10037031 SMIM23 Nonsynonymous SNV T36M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25 181412 chr16 22144360 22144360 C A rs374069500 VWA3A Nonsynonymous SNV A671D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 181413 chr5 171554396 171554396 G A rs62641681 STK10 Synonymous SNV A117A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.07 181414 chr5 172537688 172537688 G A rs116295349 CREBRF Synonymous SNV R527R 0 0 0.01 0 0 0 0 3 0 0 0 0 9.299 181415 chr16 23200913 23200913 G A rs546893551 SCNN1G Nonsynonymous SNV R180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.2 181416 chr2 166785800 166785800 G C rs185089786 TTC21B Nonsynonymous SNV R411G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.68 181417 chr5 176011557 176011557 C T rs115808179 CDHR2 Nonsynonymous SNV R759W 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 181418 chr15 78768699 78768699 C A rs376996832 IREB2 Nonsynonymous SNV T148K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 181419 chr5 11082877 11082877 G A rs758691291 CTNND2 Nonsynonymous SNV R570C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 181420 chr5 176335585 176335585 C T rs10475633 UIMC1 Nonsynonymous SNV G596E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.619 181421 chr5 176395667 176395667 C T rs6865575 UIMC1 Synonymous SNV E363E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 181422 chr5 176637090 176637090 G T rs116520623 NSD1 Nonsynonymous SNV A564S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.608 181423 chr5 176637569 176637569 C T rs11948062 NSD1 Synonymous SNV T723T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.52 181424 chr5 176637695 176637695 C T rs146767413 NSD1 Synonymous SNV N765N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.404 181425 chr5 176778601 176778601 G A rs149538467 LMAN2 Synonymous SNV C16C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 181426 chr5 176778602 176778602 C T rs143985896 LMAN2 Nonsynonymous SNV C16Y 0 0.005 0.003 0 0 2 0 1 0 1 0 0 23.6 181427 chr16 28843514 28843514 C G rs775876942 ATXN2L Nonsynonymous SNV P443R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 181428 chr5 178293265 178293265 C T rs1132331 ZNF354B Synonymous SNV D18D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.85 181429 chr17 48677107 48677107 G A CACNA1G Nonsynonymous SNV A1170T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.244 181430 chr5 178358738 178358738 C G rs11956147 ZFP2 Nonsynonymous SNV R142G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.81 181431 chr5 178413299 178413299 G A rs62638621 GRM6 Synonymous SNV A652A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.031 181432 chr16 29884745 29884745 G A rs778736503 SEZ6L2 Synonymous SNV Y654Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.649 181433 chr5 178459468 178459468 A C rs61745940 ZNF879 Nonsynonymous SNV K173N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 181434 chr5 121785589 121785589 G A rs756106345 SNCAIP Nonsynonymous SNV E144K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 181435 chr5 109756426 109756426 T C TMEM232 Nonsynonymous SNV E610G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 181436 chr5 178358523 178358523 T C rs146528097 ZFP2 Nonsynonymous SNV V70A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.05 181437 chr5 110428265 110428265 G T rs200337257 WDR36 Nonsynonymous SNV K93N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 181438 chr20 464622 464622 C T rs199715749 CSNK2A1 Nonsynonymous SNV A251T 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 22.9 181439 chr16 30794596 30794596 G A ZNF629 Synonymous SNV C351C 0.003 0 0 0 3 0 0 0 0 0 0 0 5.238 181440 chr5 180058720 180058720 G A rs150736691 FLT4 Synonymous SNV H39H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.09 181441 chr5 180166256 180166256 C T rs61735555 OR2Y1 Nonsynonymous SNV R268H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 181442 chr5 180166362 180166362 G A rs61736842 OR2Y1 Nonsynonymous SNV R233C 0 0 0.007 0 0 0 0 2 0 0 0 0 16.67 181443 chr2 179197726 179197726 T G OSBPL6 Synonymous SNV A184A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.42 181444 chr5 180219855 180219855 T C rs115600707 MGAT1 Synonymous SNV S39S 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 0.006 181445 chr2 179598097 179598097 C T rs146847928 TTN Nonsynonymous SNV R4064Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.2 181446 chr16 31470626 31470626 C T ARMC5 Nonsynonymous SNV H2Y 0.003 0 0 0 3 0 0 0 0 0 0 0 11.2 181447 chr16 31500620 31500620 C T SLC5A2 Synonymous SNV L542L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.093 181448 chr17 57955646 57955646 C T rs760435470 TUBD1 Nonsynonymous SNV R196Q 0.003 0 0 0 3 0 0 0 0 0 0 0 18.2 181449 chr5 180684294 180684294 T G rs7720110 CTC-338M12.4 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 181450 chr2 179648961 179648961 C A rs72647861 TTN Nonsynonymous SNV V825L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 181451 chr19 57932298 57932298 G A rs201567131 ZNF17 Nonsynonymous SNV V480M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.196 181452 chr5 31468103 31468103 G A DROSHA Nonsynonymous SNV P733L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 181453 chr5 32126441 32126441 G A rs34212503 GOLPH3 Synonymous SNV D258D 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.021 181454 chr5 32712119 32712119 T C rs6859964 NPR3 Synonymous SNV A79A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.952 181455 chr5 33527307 33527307 A G rs16891281 ADAMTS12 Nonsynonymous SNV S1506P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.254 181456 chr5 33937751 33937751 C T rs61737265 RXFP3 Synonymous SNV T302T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.007 181457 chr5 33989565 33989565 A G rs3195678 AMACR Nonsynonymous SNV M261T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 181458 chr5 34823081 34823081 G A rs114157087 RAI14 Synonymous SNV A349A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 181459 chr5 34824566 34824566 T C rs114639306 RAI14 Synonymous SNV S844S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.202 181460 chr5 34845722 34845722 A G rs6866035 TTC23L Nonsynonymous SNV K76E 0 0 0.007 0 0 0 0 2 0 0 0 0 4.634 181461 chr5 19571788 19571788 T C rs141062529 CDH18 Nonsynonymous SNV M385V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.306 181462 chr5 35037136 35037136 G A rs140156063 AGXT2 Nonsynonymous SNV R133C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 181463 chr19 59082621 59082621 G A rs758062386 MZF1 Nonsynonymous SNV R46C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 181464 chr5 36686231 36686231 T C rs150357327 SLC1A3 Synonymous SNV L385L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.959 181465 chr5 36985751 36985751 A G rs293756 NIPBL Synonymous SNV K823K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.099 181466 chr5 36986297 36986297 A G rs1669445 NIPBL Synonymous SNV L1005L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.061 181467 chr5 37170178 37170178 T C rs6884652 CPLANE1 Nonsynonymous SNV I2143V 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 0.001 181468 chr5 37299049 37299049 C T rs16903575 NUP155 Synonymous SNV S1174S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.17 181469 chr20 239847 239847 C A rs78479346 DEFB132 Nonsynonymous SNV P63Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.722 181470 chr5 37815960 37815960 C T rs36010631 GDNF Synonymous SNV R143R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 10.22 181471 chr5 38338843 38338843 A G rs77586117 EGFLAM Nonsynonymous SNV Q84R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 181472 chr5 39377130 39377130 T C rs75610108 DAB2 Nonsynonymous SNV T566A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.04 181473 chr5 43277283 43277283 G A rs61734291 NIM1K Synonymous SNV V139V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.012 181474 chr5 442933 442933 G A rs79112167 EXOC3-AS1 0 0 0.017 0 0 0 0 5 0 0 1 0 13.41 181475 chr20 60889743 60889743 C T rs376786653 LAMA5 Synonymous SNV V2745V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.86 181476 chr5 52351437 52351437 C T rs3212521 ITGA2 Synonymous SNV D283D 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 Benign 15.91 181477 chr5 140625938 140625938 C T rs782228787 PCDHB15 Synonymous SNV V264V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 181478 chr16 68011188 68011188 C T rs780496390 DPEP3 Nonsynonymous SNV V334M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 181479 chr20 3063362 3063362 C A rs765019311 AVP Nonsynonymous SNV G137W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 181480 chr5 54579267 54579267 G A rs115351979 DHX29 Nonsynonymous SNV H577Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.688 181481 chr5 140797664 140797664 C G rs372018713 PCDHGB7 Nonsynonymous SNV Q80E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 181482 chr5 55212626 55212626 C T rs112989426 IL31RA Nonsynonymous SNV T639M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.958 181483 chr5 41032860 41032860 C T rs775065423 MROH2B Nonsynonymous SNV A809T 0 0.003 0 0 0 1 0 0 0 0 0 0 35 181484 chr5 55218257 55218257 A G rs80333862 IL31RA Nonsynonymous SNV I681M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.603 181485 chr5 55250727 55250727 A G rs2228046 IL6ST Nonsynonymous SNV I122T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 24.6 181486 chr5 55760828 55760828 C T rs73758757 LINC01948 0 0 0.003 0 0 0 0 1 0 0 0 0 6.175 181487 chr5 55760891 55760891 C - rs201667293 LINC01948 0 0 0.003 0 0 0 0 1 0 0 0 0 181488 chr5 56168790 56168790 A G rs56225368 MAP3K1 Synonymous SNV Q548Q 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 0.129 181489 chr16 68853304 68853304 G T rs587782044 CDH1 Nonsynonymous SNV A502S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 181490 chr5 56205479 56205479 G A rs141021686 SETD9 Nonsynonymous SNV G3S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 181491 chr5 56778213 56778213 C T rs73757391 ACTBL2 Nonsynonymous SNV E108K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.9 181492 chr5 60448734 60448734 T C rs77878573 NDUFAF2 Synonymous SNV F154F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.991 181493 chr20 62178555 62178555 T C rs35558836 SRMS Nonsynonymous SNV I88V 0.004 0.003 0.007 2 5 1 0.005 2 2 0 0 0 0.001 181494 chr5 61874629 61874629 A C rs10066921 IPO11-LRRC70 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 181495 chr20 62191383 62191383 G A rs148612902 HELZ2 Nonsynonymous SNV R2006W 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 33 181496 chr5 64103562 64103562 C T rs113547129 CWC27 Nonsynonymous SNV R359C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.904 181497 chr5 64556450 64556450 G A rs114007286 ADAMTS6 Nonsynonymous SNV R603W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 181498 chr5 65349382 65349382 A G rs16894812 ERBIN Nonsynonymous SNV K746E 0 0 0.007 0 0 0 0 2 0 0 1 0 21.1 181499 chr5 66461391 66461391 G C rs77191584 MAST4 Nonsynonymous SNV R1867S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.65 181500 chr5 66462143 66462143 A G rs138020214 MAST4 Nonsynonymous SNV Y2118C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 181501 chr5 68715576 68715576 G A rs140764671 MARVELD2 Nonsynonymous SNV A122T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.005 181502 chr5 71593471 71593471 T C rs148849864 MRPS27 Synonymous SNV L70L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.326 181503 chr16 74662486 74662486 G C rs556158961 RFWD3 Synonymous SNV T552T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.194 181504 chr5 74021509 74021509 A T rs141789665 GFM2 Nonsynonymous SNV S615T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.6 181505 chr5 76249942 76249942 G A rs34347676 CRHBP Synonymous SNV E88E 0 0 0.007 0 0 0 0 2 0 0 0 0 14.92 181506 chr2 215917233 215917233 G A rs149399707 ABCA12 Nonsynonymous SNV A162V 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.74 181507 chr5 7773138 7773138 T C rs74922186 ADCY2 Synonymous SNV L770L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.257 181508 chr2 216239994 216239994 G C FN1 Nonsynonymous SNV P1853A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.017 181509 chr5 7835501 7835501 G A rs116024658 C5orf49 Synonymous SNV N86N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.264 181510 chr5 7885907 7885907 C G rs10064631 MTRR Nonsynonymous SNV L333V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.8 181511 chr16 2293179 2293179 G A rs376966589 ECI1 Nonsynonymous SNV R187C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 181512 chr16 2474607 2474607 C T rs147789433 ABCA17P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.808 181513 chr5 79029311 79029311 A T rs74935252 CMYA5 Nonsynonymous SNV N1575Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.098 181514 chr5 79032439 79032439 C T rs112331957 CMYA5 Synonymous SNV T2617T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 181515 chr5 79032978 79032978 G A rs59212409 CMYA5 Nonsynonymous SNV R2797H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 181516 chr5 75427682 75427682 G A rs370857452 SV2C Nonsynonymous SNV R36Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 181517 chr5 79950728 79950736 CAGCGCCCC - rs745490043 MSH3 P67_P69del 0 0 0.003 0 0 0 0 1 0 0 0 0 181518 chr5 80390736 80390736 C T rs34039392 RASGRF2 Synonymous SNV D560D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.42 181519 chr2 220111414 220111414 A G rs34799131 STK16 Nonsynonymous SNV H41R 0 0.005 0 0 0 2 0 0 0 0 0 0 7.324 181520 chr20 33855022 33855022 C G rs771841042 MMP24 Nonsynonymous SNV P332A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.85 181521 chr5 81608521 81608521 G T rs16899484 ATP6AP1L Nonsynonymous SNV V75F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.411 181522 chr16 84516253 84516253 T A rs571203709 MEAK7 Nonsynonymous SNV Y341F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 181523 chr16 3707191 3707191 G A rs74892550 DNASE1 Nonsynonymous SNV V185I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.086 181524 chr2 220348009 220348009 G A SPEG Nonsynonymous SNV E1942K 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 181525 chr5 89769834 89769834 G A rs9293544 MBLAC2 Synonymous SNV L92L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.08 181526 chr5 89814977 89814977 T A rs78764058 LYSMD3 Nonsynonymous SNV M194L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 181527 chr5 89933644 89933644 A T rs200897149 ADGRV1 Nonsynonymous SNV I707L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.83 181528 chr5 90020671 90020671 C T rs16869039 ADGRV1 Synonymous SNV S3257S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 19.23 181529 chr5 90085654 90085654 T C rs62000408 ADGRV1 Nonsynonymous SNV F4677L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.606 181530 chr5 90103487 90103487 T C rs7729495 ADGRV1 Nonsynonymous SNV W4969R 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.515 181531 chr5 79048507 79048507 C T rs763663986 CMYA5 Nonsynonymous SNV S3667F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 181532 chr3 42734296 42734296 G A rs575198097 HHATL Stop gain R488X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 181533 chr5 171509427 171509427 T C STK10 Nonsynonymous SNV H631R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 181534 chr5 92956409 92956409 G A rs111409602 MIR2277 0 0 0.007 0 0 0 0 2 0 0 0 0 10.49 181535 chr5 93294657 93294657 C T rs17083426 FAM172A Nonsynonymous SNV S85N 0 0 0.007 0 0 0 0 2 0 0 0 0 12.56 181536 chr5 172745090 172745090 G A rs11554179 STC2 Synonymous SNV P223P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.658 181537 chr5 94114863 94114863 C T rs35401352 MCTP1 Synonymous SNV V547V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.59 181538 chr5 94224594 94224594 G A rs10053776 MCTP1 Synonymous SNV A374A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.89 181539 chr5 94936744 94936744 G A rs61733083 ARSK Synonymous SNV S430S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.193 181540 chr17 80367243 80367243 C T rs140153882 OGFOD3 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 181541 chr17 80895151 80895151 C A TBCD Nonsynonymous SNV P1066T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 181542 chr5 82833159 82833159 G T rs764331111 VCAN Nonsynonymous SNV S459I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 181543 chr6 100061792 100061792 G A rs138903323 PRDM13 Synonymous SNV P427P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.378 181544 chr6 10430494 10430494 G A rs73414711 LINC00518 0 0 0.003 0 0 0 0 1 0 0 0 0 16.61 181545 chr6 105198324 105198324 A T rs34979682 HACE1 Synonymous SNV T648T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.41 181546 chr6 105585588 105585588 G T rs115826132 BVES-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.284 181547 chr6 105609773 105609773 A G rs80020925 POPDC3 Synonymous SNV N4N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.662 181548 chr6 105614538 105614538 C A rs114467498 BVES-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.881 181549 chr16 88793186 88793186 G A rs112343464 PIEZO1 Synonymous SNV L1212L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.4 181550 chr6 107076696 107076696 G A rs1824619 RTN4IP1 Synonymous SNV I67I 0.003 0 0.017 1 3 0 0.003 5 0 0 1 0 14.01 181551 chr6 10875070 10875070 T C rs35395043 GCM2 Nonsynonymous SNV I227V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 181552 chr3 46307313 46307313 A G rs138346219 CCR3 Nonsynonymous SNV I222V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 181553 chr5 178140536 178140536 T C rs201261959 ZNF354A Nonsynonymous SNV N73D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 181554 chr6 10902947 10902947 A G rs137946869 SYCP2L Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.021 181555 chr5 178358653 178358653 G C rs28678700 ZFP2 Nonsynonymous SNV Q113H 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 181556 chr6 109274527 109274527 A G rs113651966 ARMC2 Nonsynonymous SNV I465V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 181557 chr16 88873515 88873515 G C rs74035837 CDT1 Synonymous SNV G393G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 3.904 181558 chr16 88873557 88873557 G A rs74035838 CDT1 Synonymous SNV P407P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.373 181559 chr6 109476435 109476435 C A rs351733 CEP57L1 Nonsynonymous SNV D56E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.39 181560 chr16 88926367 88926367 - GCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT rs368313359 TRAPPC2L Frameshift insertion S125Rfs*26 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 181561 chr16 89017462 89017462 G C rs189136104 LOC100129697 Synonymous SNV L312L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.152 181562 chr6 109721303 109721303 G A rs141859932 PPIL6 Synonymous SNV N221N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 181563 chr5 94820492 94820492 G A TTC37 Nonsynonymous SNV S1330L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 181564 chr6 109764875 109764877 GGA - rs142982624 SMPD2 G349del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 181565 chr20 48503306 48503306 G A rs73125686 SLC9A8 Synonymous SNV S519S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.84 181566 chr3 46713633 46713633 A T rs548058222 ALS2CL Nonsynonymous SNV I844N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 181567 chr16 89187213 89187213 C T rs138395741 ACSF3 Synonymous SNV S112S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.91 181568 chr6 109993200 109993200 T C rs143883482 AK9 Nonsynonymous SNV S85G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.092 181569 chr16 89187216 89187216 G A rs141088268 ACSF3 Synonymous SNV V113V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.73 181570 chr16 89251693 89251693 C T rs148424541 CDH15 Synonymous SNV D205D 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 15.88 181571 chr6 110714439 110714439 G C rs17622 DDO Nonsynonymous SNV Q76E 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 0.001 181572 chr3 4683878 4683878 T C rs772182196 ITPR1 Synonymous SNV N156N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.74 181573 chr6 11105442 11105442 A G rs77904736 ERVFRD-1 Synonymous SNV S34S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.282 181574 chr6 111303315 111303315 C T rs79729443 RPF2 Synonymous SNV D2D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 181575 chr6 111688682 111688682 G A rs3218590 REV3L Synonymous SNV P2103P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.321 181576 chr6 112382323 112382323 C T rs17073260 CCN6 Nonsynonymous SNV R60C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.6 181577 chr6 112450238 112450238 A G rs35042032 LAMA4 Synonymous SNV Y1391Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.437 181578 chr3 4744547 4744547 G A rs772040285 ITPR1 Nonsynonymous SNV G1509S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.41 181579 chr5 180047269 180047269 T C FLT4 Nonsynonymous SNV I816V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 181580 chr16 89346026 89346026 G A rs146575027 ANKRD11 Synonymous SNV G2308G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.211 181581 chr6 116442530 116442530 C T COL10A1 Nonsynonymous SNV G250D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 181582 chr16 89574834 89574834 G T rs553241838 SPG7 Synonymous SNV V3V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.623 181583 chr16 89603231 89603231 C T rs143254053 SPG7 Synonymous SNV T461T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.833 181584 chr16 89617008 89617008 C T rs60488729 SPG7 Synonymous SNV A590A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.37 181585 chr6 116690987 116690987 G C rs80203839 LOC100287467 0 0 0.003 0 0 0 0 1 0 0 0 0 0.187 181586 chr16 20839769 20839769 G A rs139628401 REXO5 Synonymous SNV Q356Q 0.008 0.003 0 1 9 1 0.003 0 0 0 0 0 6.138 181587 chr16 89657660 89657660 A G rs35731090 CPNE7 Nonsynonymous SNV K432E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.254 181588 chr6 117010595 117010595 A G rs9481656 KPNA5 Synonymous SNV R39R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.744 181589 chr3 49160626 49160626 C T rs146522641 LAMB2 Nonsynonymous SNV R1388Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.578 181590 chr6 117665231 117665231 T C rs35841892 ROS1 Nonsynonymous SNV R1506G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.97 181591 chr6 117706984 117706984 C T rs55944128 ROS1 Synonymous SNV T722T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.29 181592 chr6 117709104 117709104 T C rs151183861 ROS1 Nonsynonymous SNV D618G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.65 181593 chr6 117865691 117865693 GAA - rs372173360 DCBLD1 R456del 0 0 0.003 0 0 0 0 1 0 0 0 0 181594 chr6 119136601 119136601 G T rs79301018 MCM9 Nonsynonymous SNV H940N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.338 181595 chr6 119399385 119399385 G T rs192266016 FAM184A Nonsynonymous SNV A27E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 181596 chr16 90072826 90072826 C T rs569017076 DBNDD1 Nonsynonymous SNV E50K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 181597 chr6 109770680 109770680 C T rs143598372 MICAL1 Nonsynonymous SNV R394Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 181598 chr6 12123216 12123216 C T rs35957644 HIVEP1 Nonsynonymous SNV A1063V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 181599 chr20 60770931 60770931 A G rs11700220 MTG2 Nonsynonymous SNV H93R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 17.72 181600 chr16 24818036 24818036 A T TNRC6A Nonsynonymous SNV M1442L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.24 181601 chr6 12163588 12163588 G A HIVEP1 Nonsynonymous SNV V2351M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.133 181602 chr6 12164525 12164525 C T rs35419506 HIVEP1 Nonsynonymous SNV P2663L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 181603 chr20 60893979 60893979 C T rs141245936 LAMA5 Nonsynonymous SNV R2321Q 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 23.2 181604 chr6 123714778 123714778 C T rs35047281 TRDN Nonsynonymous SNV A367T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.443 181605 chr6 125252842 125252842 A G rs6927751 RNF217-AS1 0 0 0.01 0 0 0 0 3 0 0 1 0 0.334 181606 chr3 50655190 50655190 G T rs35362731 MAPKAPK3 Nonsynonymous SNV R65L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 181607 chr6 126210706 126210706 G A rs144077211 NCOA7 Synonymous SNV S387S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.738 181608 chr6 126242154 126242154 A G rs143044178 NCOA7 Synonymous SNV E47E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 181609 chr6 112400902 112400902 A G rs149425380 TUBE1 Nonsynonymous SNV F128L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 181610 chr6 128150727 128150727 G T rs757020706 THEMIS Nonsynonymous SNV N201K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 181611 chr5 36066836 36066836 A G UGT3A2 Nonsynonymous SNV L19P 0.003 0 0 4 4 0 0.01 0 0 0 0 0 26.1 181612 chr6 129794489 129794489 A T rs34367843 LAMA2 Nonsynonymous SNV R2477S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.1 181613 chr5 37169452 37169452 A G CPLANE1 Nonsynonymous SNV F2225S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 181614 chr5 37226878 37226878 A - rs777686211 CPLANE1 Y607Tfs*6 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 181615 chr18 43248323 43248323 C T rs141424838 SLC14A2 Synonymous SNV I639I 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 14.72 181616 chr6 132874553 132874553 C A TAAR8 Stop gain S241X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 181617 chr6 132891953 132891953 G A rs17061401 TAAR6 Nonsynonymous SNV G165S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.374 181618 chr6 132892143 132892143 C T rs17061409 TAAR6 Nonsynonymous SNV A228V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.9 181619 chr3 52556808 52556808 C T rs79651662 STAB1 Synonymous SNV C2254C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 181620 chr6 133015257 133015257 C G rs45610032 VNN1 Nonsynonymous SNV V136L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.1 181621 chr20 61918972 61918972 A G rs150388613 ARFGAP1 Nonsynonymous SNV N210S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 181622 chr6 13305345 13305345 G C rs34295856 TBC1D7, TBC1D7-LOC100130357 Synonymous SNV V263V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.106 181623 chr17 2604785 2604785 C T CLUH Nonsynonymous SNV M258I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.59 181624 chr6 134158746 134158746 A G rs184850380 LINC01312 0 0 0.003 0 0 0 0 1 0 0 0 0 3.628 181625 chr6 134210600 134210600 G T rs56412384 TCF21 Nonsynonymous SNV G22V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 14.3 181626 chr6 135521289 135521289 A G rs75521209 MYB Synonymous SNV K386K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.364 181627 chr6 135521505 135521505 T C rs79688604 MYB Synonymous SNV A428A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.365 181628 chr6 135732531 135732531 A C rs140280929 AHI1 Synonymous SNV S972S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.221 181629 chr6 135788730 135788730 T C rs115502075 AHI1 Nonsynonymous SNV T60A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 181630 chr6 135839951 135839951 A T rs116299649 LINC00271 0 0 0.003 0 0 0 0 1 0 0 0 0 2.309 181631 chr6 137329854 137329854 C T rs9483975 IL20RA Synonymous SNV T91T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 17.19 181632 chr6 138196060 138196060 C T rs5029941 TNFAIP3 Nonsynonymous SNV A125V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.11 181633 chr6 138428353 138428353 C A rs78795891 PERP Nonsynonymous SNV G42V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.021 181634 chr6 138539327 138539327 A G rs9494968 PBOV1 Nonsynonymous SNV I69T 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 0.001 181635 chr6 138584264 138584264 G A rs9494985 ARFGEF3 Synonymous SNV L548L 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 5.625 181636 chr6 138752242 138752242 G A rs6927981 NHSL1 Synonymous SNV P1084P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 181637 chr18 51888557 51888557 T A rs960363441 C18orf54 Nonsynonymous SNV S276R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.1 181638 chr22 23523550 23523550 G A rs551667497 BCR Nonsynonymous SNV G135R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.928 181639 chr6 139564091 139564091 G T rs201364436 TXLNB Nonsynonymous SNV Q543K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.529 181640 chr6 128563747 128563747 C T rs773979573 PTPRK Nonsynonymous SNV V37I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 181641 chr6 139610006 139610006 C T rs9321712 TXLNB Nonsynonymous SNV A11T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.12 181642 chr6 139694572 139694572 C G rs139128813 CITED2 Synonymous SNV S170S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.707 181643 chr6 142409694 142409694 G A rs112415060 NMBR Synonymous SNV D34D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.642 181644 chr6 142409708 142409708 G A rs113321731 NMBR Synonymous SNV L30L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.716 181645 chr6 142455918 142455918 A C rs79798561 GJE1 Synonymous SNV I159I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 181646 chr6 142688811 142688811 C T rs116955726 ADGRG6 Nonsynonymous SNV T70M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.9 181647 chr6 142688827 142688827 C T rs35699755 ADGRG6 Synonymous SNV T75T 0 0 0.01 0 0 0 0 3 0 0 1 0 10.85 181648 chr6 144181649 144181649 A G rs2092714 LTV1 Synonymous SNV L115L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.041 181649 chr6 144205444 144205444 G A rs116398727 ZC2HC1B Nonsynonymous SNV G11D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 181650 chr6 144263138 144263138 G A rs35263016 PLAGL1 Nonsynonymous SNV A272V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.003 181651 chr6 144263312 144263312 T C rs34652819 PLAGL1 Nonsynonymous SNV E214G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.8 181652 chr6 147525655 147525655 G A rs11963039 STXBP5-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.67 181653 chr2 25457242 25457242 C T rs147001633 DNMT3A Nonsynonymous SNV R730H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 181654 chr6 147830308 147830308 C T rs914955 SAMD5 Nonsynonymous SNV P82S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.417 181655 chr6 148761362 148761362 C G rs34521137 SASH1 Nonsynonymous SNV Q65E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.49 181656 chr6 149395144 149395144 C T rs61742164 UST Synonymous SNV P371P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.95 181657 chr6 149918748 149918748 G A rs116762085 KATNA1 Nonsynonymous SNV P273S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 181658 chr5 52376415 52376415 C A rs144334272 ITGA2 Nonsynonymous SNV N1001K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.5 181659 chr6 150022974 150022974 T C rs74774574 LATS1 Nonsynonymous SNV S97G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.308 181660 chr6 13711706 13711706 - GCG rs778134723 RANBP9 P10_Q11insP 0 0.003 0 1 0 1 0.003 0 0 0 0 0 181661 chr6 150184947 150184947 C T rs192815318 LRP11 Synonymous SNV R70R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 181662 chr6 150716673 150716673 G A rs115446362 IYD Nonsynonymous SNV C257Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.677 181663 chr22 29706828 29706828 C T rs754474897 GAS2L1 Nonsynonymous SNV P284S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.068 181664 chr17 4721648 4721648 T G PLD2 Nonsynonymous SNV D659E 0.003 0 0 0 3 0 0 0 0 0 0 0 20.5 181665 chr6 151247299 151247299 A G rs61754784 MTHFD1L Nonsynonymous SNV D376G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 181666 chr2 27596143 27596143 G A rs78946094 SNX17 Nonsynonymous SNV E71K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 181667 chr6 151779636 151779636 A G rs150060290 ARMT1 Synonymous SNV R107R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.439 181668 chr6 152647218 152647218 C T rs35493783 SYNE1 Nonsynonymous SNV D5034N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.7 181669 chr16 67208714 67208714 - A rs766843875 NOL3 Frameshift insertion R161Efs*46 0.003 0 0.01 0 4 0 0 3 0 0 0 0 181670 chr6 152708358 152708358 A C rs77121899 SYNE1 Nonsynonymous SNV I2786S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.3 181671 chr6 154360642 154360642 C A rs9282815 OPRM1 Nonsynonymous SNV A81D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.054 181672 chr17 6719202 6719202 T C rs34431552 TEKT1 Nonsynonymous SNV I146V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.001 181673 chr3 97887853 97887853 A T rs148620705 OR5H15 Nonsynonymous SNV I104F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 181674 chr3 97887864 97887864 C T rs116301500 OR5H15 Synonymous SNV G107G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.205 181675 chr6 150039181 150039181 C T rs748499094 LOC645967 0 0.003 0 0 0 1 0 0 0 0 0 0 8.667 181676 chr22 31521990 31521990 G T rs769991803 INPP5J Nonsynonymous SNV G422V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.85 181677 chr3 97887944 97887944 C T rs528440606 OR5H15 Nonsynonymous SNV A134V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 181678 chr2 31155004 31155004 G A rs968735687 GALNT14 Stop gain R330X 0 0.003 0 2 0 1 0.005 0 0 0 0 0 36 181679 chr6 15523376 15523376 G A rs74907982 DTNBP1 Nonsynonymous SNV P261S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.409 181680 chr2 31571228 31571228 G T XDH Nonsynonymous SNV A1018E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27 181681 chr6 155451464 155451464 T C rs79755976 TIAM2 Synonymous SNV D369D 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.005 181682 chr6 155451476 155451476 G T rs114815467 TIAM2 Nonsynonymous SNV K373N 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 26.7 181683 chr6 155632427 155632427 G A rs73792829 TFB1M Synonymous SNV Y60Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.94 181684 chr6 158505177 158505177 C A rs61745222 SYNJ2 Nonsynonymous SNV T823N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.704 181685 chr6 158507914 158507914 G A rs61747264 SYNJ2 Nonsynonymous SNV R842Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 181686 chr6 158579307 158579307 A G rs34270473 SERAC1 Nonsynonymous SNV I30T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.34 181687 chr6 158957782 158957782 C A rs201958009 TMEM181 Nonsynonymous SNV P102T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 181688 chr6 159647584 159647584 G A rs12110595 FNDC1 Synonymous SNV A384A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.59 181689 chr6 159650848 159650848 A G rs116342739 FNDC1 Synonymous SNV E394E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.64 181690 chr6 159654408 159654408 G A rs73799344 FNDC1 Nonsynonymous SNV S955N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.86 181691 chr16 72992896 72992896 G C rs201339061 ZFHX3 Synonymous SNV S383S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 181692 chr6 160448264 160448264 A G rs76235629 IGF2R Nonsynonymous SNV T232A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.759 181693 chr2 43712450 43712450 G A rs776203996 THADA Synonymous SNV S1253S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 181694 chr2 43931149 43931149 A G rs112810684 PLEKHH2 Synonymous SNV S560S 0.003 0.013 0 0 4 5 0 0 0 0 0 0 9.877 181695 chr6 160575907 160575907 G T rs35270274 SLC22A1 Nonsynonymous SNV R488M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.184 181696 chr6 160579596 160579596 A C rs16891138 SLC22A1 Synonymous SNV S549S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.028 181697 chr17 8134706 8134706 T C rs758218109 CTC1 Nonsynonymous SNV T853A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 181698 chr6 160905246 160905246 C T rs184718672 LPAL2 0 0 0.007 0 0 0 0 2 0 0 0 0 2.653 181699 chr6 160921855 160921855 G A rs61748891 LPAL2 0 0 0.007 0 0 0 0 2 0 0 0 0 1.669 181700 chr6 161567601 161567601 G A rs16892215 AGPAT4 Synonymous SNV D266D 0 0 0.01 0 0 0 0 3 0 0 1 0 1.806 181701 chr17 10222111 10222111 G A MYH13 Nonsynonymous SNV S1245L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 181702 chr6 165809940 165809940 A G rs111737394 PDE10A Synonymous SNV H429H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.495 181703 chr6 167352403 167352403 G A rs34346305 RNASET2 Synonymous SNV Y142Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.131 181704 chr6 167427045 167427045 C G rs34617108 FGFR1OP Nonsynonymous SNV A190G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 181705 chr6 167704994 167704994 G A rs36110805 UNC93A Nonsynonymous SNV R6K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 181706 chr6 167728715 167728715 C A rs7739457 UNC93A Synonymous SNV A341A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 181707 chr6 167738668 167738668 G A rs12526094 TTLL2 Nonsynonymous SNV G3R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 181708 chr6 167752274 167752274 C T rs34350976 TTLL2 Nonsynonymous SNV P63S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.964 181709 chr17 12921179 12921179 C A rs752810239 ELAC2 Nonsynonymous SNV R29L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 181710 chr17 12921180 12921180 G A rs760926930 ELAC2 Nonsynonymous SNV R29C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 181711 chr6 168188265 168188265 C T rs34095094 LINC01558 0 0 0.007 0 0 0 0 2 0 0 0 0 35 181712 chr6 168191659 168191659 C A rs112505041 LINC01558 0 0 0.003 0 0 0 0 1 0 0 0 0 8.442 181713 chr6 168475974 168475974 G T rs114867077 FRMD1 Nonsynonymous SNV N17K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.93 181714 chr6 160454089 160454089 C T rs151169137 IGF2R Synonymous SNV S387S 0 0.003 0 0 0 1 0 0 0 0 0 0 14 181715 chr6 168710902 168710902 C T rs139037320 DACT2 Nonsynonymous SNV V32M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 181716 chr17 17106254 17106254 G A rs376910993 PLD6 Nonsynonymous SNV R196W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 181717 chr6 170160814 170160814 A G rs149907871 ERMARD Synonymous SNV P147P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.6 181718 chr6 170190823 170190823 - T rs572032128 LINC00242 0 0 0.003 0 0 0 0 1 0 0 0 0 181719 chr6 170563821 170563821 T C rs181274530 LOC154449 0 0 0.003 0 0 0 0 1 0 0 0 0 1.557 181720 chr6 17421846 17421846 G A rs34235894 CAP2 Synonymous SNV S20S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 181721 chr6 17624804 17624804 T C rs2228379 NUP153 Nonsynonymous SNV T1346A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.384 181722 chr5 96315096 96315096 G T LNPEP Nonsynonymous SNV A92S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.955 181723 chr6 17629172 17629172 G A rs2228378 NUP153 Synonymous SNV N1044N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.072 181724 chr4 119952838 119952838 T C rs773150399 SYNPO2 Nonsynonymous SNV Y970H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 181725 chr6 20109842 20109842 T C rs2065649 MBOAT1 Nonsynonymous SNV I450V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.2 181726 chr16 88105758 88105758 C T rs143051522 BANP Synonymous SNV S423S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.19 181727 chr22 17589631 17589631 A G IL17RA Nonsynonymous SNV S474G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.023 181728 chr6 25727382 25727382 G A rs6903757 HIST1H2BA Synonymous SNV L82L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.641 181729 chr6 17292069 17292069 G A rs375448660 RBM24 Nonsynonymous SNV A99T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 181730 chr6 26017665 26017665 G A rs417751 HIST1H1A Nonsynonymous SNV T99I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 181731 chr6 26056320 26056320 A C rs34810376 HIST1H1C Nonsynonymous SNV S113A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 181732 chr6 26091181 26091181 T C rs147426902 HFE Synonymous SNV H63H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.221 181733 chr6 26423518 26423518 A G rs146828848 BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.854 181734 chr6 108395760 108395760 C A OSTM1 Synonymous SNV A32A 0.003 0 0 0 3 0 0 0 0 0 0 0 23 181735 chr6 27100925 27100925 G A rs115976308 H2AC11 Synonymous SNV Q25Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.433 181736 chr6 27114458 27114458 T C rs139889230 HIST1H2BK Synonymous SNV V40V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.92 181737 chr6 2749413 2749413 T G rs7770402 MYLK4 Nonsynonymous SNV E39A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 181738 chr6 28134651 28134651 T C rs61995707 ZNF192P1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 181739 chr6 28200492 28200492 A T rs62638673 ZSCAN9 Nonsynonymous SNV I241L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 181740 chr6 111696278 111696278 C T rs146319319 REV3L Nonsynonymous SNV A1094T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 18.88 181741 chr22 20079057 20079057 G A DGCR8 Nonsynonymous SNV R469Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 181742 chr6 2834130 2834130 G T rs34648853 SERPINB1 Synonymous SNV L284L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.902 181743 chr6 3140742 3140742 C T rs2231369 BPHL Nonsynonymous SNV R263W 0 0 0.007 0 0 0 0 2 0 0 1 0 24.4 181744 chr6 33560854 33560854 C A rs112647050 LINC00336 0 0 0.003 0 0 0 0 1 0 0 0 0 7.053 181745 chr6 33654191 33654191 C T rs73408284 ITPR3 Synonymous SNV C1958C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.019 181746 chr6 33756225 33756225 G C rs73412138 LEMD2 Synonymous SNV L223L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.457 181747 chr6 34827130 34827130 G A rs73419681 UHRF1BP1 Synonymous SNV E999E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.481 181748 chr4 154215613 154215613 G A rs199678533 TRIM2 Synonymous SNV E227E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 7.534 181749 chr6 117622150 117622150 A C rs210968 ROS1 Nonsynonymous SNV N2240K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 24.5 181750 chr6 35289024 35289024 G A rs9296146 DEF6 Nonsynonymous SNV R578H 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Benign 24.1 181751 chr6 35467923 35467923 C T rs138400030 TULP1 Nonsynonymous SNV D391N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 181752 chr6 35923259 35923259 G A rs114646309 SLC26A8 Synonymous SNV P529P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.421 181753 chr6 36104441 36104441 T C rs140001325 MAPK13 Synonymous SNV D168D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.955 181754 chr6 36446994 36446994 A C rs115127137 KCTD20 Synonymous SNV T32T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 181755 chr17 33806280 33806280 A C rs200669431 SLFN12L Nonsynonymous SNV C317G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.362 181756 chr6 36870054 36870054 A C rs145208731 C6orf89, C6orf89 Nonsynonymous SNV S90R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 181757 chr6 129723594 129723594 C T rs573779258 LAMA2 Synonymous SNV H1896H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.29 181758 chr6 36922617 36922617 C T rs148119018 PI16 Synonymous SNV A27A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 181759 chr6 36927000 36927000 G A rs139393851 PI16 Nonsynonymous SNV R84H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 181760 chr6 37138628 37138628 A G rs201760858 PIM1 Synonymous SNV S145S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.333 181761 chr6 129937373 129937373 G A ARHGAP18 Nonsynonymous SNV P343L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 181762 chr6 37182972 37182972 A G rs116076202 TMEM217 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 181763 chr6 37186513 37186513 A G rs35867476 TMEM217 Synonymous SNV I98I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.095 181764 chr6 37617892 37617892 G A rs804815 MDGA1 Synonymous SNV N534N 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 13.7 181765 chr17 2605218 2605218 G A rs771445553 CLUH Synonymous SNV G203G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.906 181766 chr6 395889 395889 G A rs73717071 IRF4 Nonsynonymous SNV S149N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 5.825 181767 chr3 10291140 10291140 C T rs140578965 TATDN2 Nonsynonymous SNV P86S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.079 181768 chr6 39865137 39865137 C T rs183210520 LOC100505635 0 0 0.003 0 0 0 0 1 0 0 0 0 8.208 181769 chr6 4049321 4049321 C T rs9503901 PRPF4B Synonymous SNV T669T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.08 181770 chr6 4069351 4069351 C T rs73349796 FAM217A Nonsynonymous SNV R369Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.7 181771 chr6 4069409 4069409 G C rs73349799 FAM217A Nonsynonymous SNV Q350E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.89 181772 chr6 41162566 41162566 G T rs115024549 TREML2 Nonsynonymous SNV Q128K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 181773 chr17 37566572 37566572 C G rs375300269 MED1 Synonymous SNV S634S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.867 181774 chr6 41303831 41303831 A G rs34345974 NCR2 Nonsynonymous SNV Q20R 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 0.002 181775 chr17 37821990 37821990 C T rs397516861 TCAP Synonymous SNV D44D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.696 181776 chr17 37826379 37826379 C T rs201626166 PNMT Nonsynonymous SNV R196W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 181777 chr6 138200282 138200282 C T TNFAIP3 Nonsynonymous SNV P567L 0.002 0 0 0 2 0 0 0 0 0 0 0 27 181778 chr6 42236038 42236038 T C rs35162277 TRERF1 Nonsynonymous SNV T431A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 181779 chr6 42236429 42236429 T C rs62640383 TRERF1 Synonymous SNV P300P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 181780 chr17 38564300 38564300 A G rs754382885 TOP2A Synonymous SNV L473L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 181781 chr17 3591933 3591933 C T rs151100959 P2RX5 Nonsynonymous SNV G268R 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 34 181782 chr6 43019864 43019864 G A rs75773293 CUL7 Synonymous SNV A273A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.661 181783 chr6 43152504 43152504 C T rs115556089 CUL9 Synonymous SNV Y152Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.9 181784 chr6 43154064 43154064 C T rs79828871 CUL9 Synonymous SNV G374G 0 0 0.007 0 0 0 0 2 0 0 0 0 13.05 181785 chr6 43266397 43266397 C T rs73625098 SLC22A7 Nonsynonymous SNV R101C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 181786 chr6 43412935 43412935 T C rs2125740 ABCC10 Synonymous SNV Y943Y 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.58 181787 chr6 43413669 43413669 G A rs112977568 ABCC10 Synonymous SNV G1093G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.61 181788 chr17 39203490 39203490 G C rs6503578 KRTAP2-1 Nonsynonymous SNV F10L 0.003 0 0 1 4 0 0.003 0 1 0 0 0 23 181789 chr6 44219926 44219926 G A rs35518699 HSP90AB1 Synonymous SNV K551K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.65 181790 chr6 151152573 151152573 G A rs202245274 PLEKHG1 Nonsynonymous SNV V737M 0.003 0 0 0 3 0 0 0 0 0 0 0 13.54 181791 chr6 44233175 44233175 C T rs2233431 NFKBIE Nonsynonymous SNV C109Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 181792 chr6 44249962 44249962 G A rs147183186 TCTE1 Nonsynonymous SNV T394M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 181793 chr6 151647019 151647019 A C rs138731692 AKAP12 Synonymous SNV T8T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 181794 chr6 44390518 44390518 A G rs11572006 CDC5L Nonsynonymous SNV Y459C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 181795 chr6 44413460 44413460 G C rs11572048 CDC5L Nonsynonymous SNV L720F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 181796 chr6 46047863 46047863 G A rs138306261 CLIC5 Synonymous SNV Y39Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.398 181797 chr3 113225376 113225376 G A rs748190985 SPICE1 Nonsynonymous SNV T26I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 181798 chr6 151894567 151894567 G A rs55868409 CCDC170 Nonsynonymous SNV E345K 0.003 0 0 0 4 0 0 0 0 0 0 0 21.9 181799 chr6 46656690 46656690 G A rs144651628 TDRD6 Synonymous SNV E275E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.691 181800 chr6 46660316 46660316 A G rs139294654 TDRD6 Nonsynonymous SNV Q1484R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 181801 chr22 37261062 37261062 C T rs373041130 NCF4 Synonymous SNV F73F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 181802 chr6 152565729 152565729 C A rs147143947 SYNE1 Nonsynonymous SNV R6474S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.886 181803 chr6 42931435 42931435 G A rs138422129 CNPY3-GNMT, GNMT Synonymous SNV R232R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 181804 chr6 47976583 47976583 G A rs112038610 PTCHD4 Synonymous SNV L232L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.092 181805 chr6 51523794 51523794 G A rs146224907 PKHD1 Synonymous SNV I3710I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.554 181806 chr6 43476538 43476538 G A rs751892843 LRRC73 Synonymous SNV N131N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.717 181807 chr6 51889409 51889409 G T rs148790132 PKHD1 Synonymous SNV T1733T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.525 181808 chr22 38150889 38150889 C G rs749846430 TRIOBP Synonymous SNV P82P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.42 181809 chr6 52343926 52343926 G T rs369468811 EFHC1 Nonsynonymous SNV R457L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 181810 chr6 52993609 52993609 A C rs35934676 GCM1 Nonsynonymous SNV F236V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 181811 chr6 53201683 53201683 G A rs73740718 RPS16P5 0 0 0.01 0 0 0 0 3 0 0 0 0 11.74 181812 chr6 54173421 54173421 T G rs34700914 TINAG Nonsynonymous SNV S25A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 181813 chr4 3076657 3076657 - CAGCAGCAA HTT Q38_P39insQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 181814 chr6 56417015 56417015 C T rs188035465 DST Synonymous SNV T2902T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.48 181815 chr6 56484281 56484281 T G rs140535914 DST Nonsynonymous SNV L1517F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.011 181816 chr6 56484610 56484610 C G DST Nonsynonymous SNV D1408H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 181817 chr6 56510947 56510947 T C rs191938592 DST Nonsynonymous SNV T319A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 181818 chr6 56765341 56765341 C T rs11969595 DST Nonsynonymous SNV V99M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 181819 chr17 40315880 40315880 G C rs772293037 KCNH4 Nonsynonymous SNV R741G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 181820 chr6 56966676 56966676 G A rs6935277 ZNF451 Nonsynonymous SNV D488N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 181821 chr22 41922430 41922430 C T rs150391290 ACO2 Synonymous SNV P642P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 19.39 181822 chr2 1488575 1488575 G A rs144957846 TPO Nonsynonymous SNV G343R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.137 181823 chr6 62526859 62526859 C T rs376726653 KHDRBS2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.468 181824 chr6 65523369 65523369 T C rs114282214 EYS Synonymous SNV E1115E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.017 181825 chr4 38016147 38016147 C T TBC1D1 Synonymous SNV S145S 0.003 0 0 4 4 0 0.01 0 0 0 0 0 9.284 181826 chr17 41168121 41168121 A G VAT1 Nonsynonymous SNV V380A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 181827 chr17 41256155 41256155 G T rs55971303 BRCA1 Nonsynonymous SNV P95H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.22 181828 chr6 52764790 52764790 G A rs768555675 GSTA3 Nonsynonymous SNV A69V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.423 181829 chr6 7404738 7404738 G A rs78123723 RIOK1 Nonsynonymous SNV M210I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 181830 chr17 42477913 42477913 T C rs377169163 GPATCH8 Nonsynonymous SNV N433S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 181831 chr6 53989584 53989584 A C rs754811097 MLIP Nonsynonymous SNV K178T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24 181832 chr6 74405974 74405974 C G rs369446412 CD109 Synonymous SNV L12L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 181833 chr6 74520863 74520863 C T rs61754903 CD109 Nonsynonymous SNV T1155I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.1 181834 chr6 74521948 74521948 G T rs61063525 CD109 Synonymous SNV T1164T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.332 181835 chr6 74524724 74524724 G A rs59555720 CD109 Synonymous SNV V1186V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.53 181836 chr6 74524757 74524757 T G rs58562849 CD109 Synonymous SNV S1197S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.623 181837 chr6 168377177 168377177 T G rs4708615 HGC6.3 Nonsynonymous SNV Q52H 0.01 0.008 0 1 12 3 0.003 0 1 0 0 0 0.006 181838 chr17 43924010 43924010 A G rs147273271 SPPL2C Nonsynonymous SNV T580A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.023 181839 chr6 56462738 56462738 T C rs763176189 DST Nonsynonymous SNV N1376D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.179 181840 chr6 76369083 76369083 C G rs199928355 SENP6 Nonsynonymous SNV P212R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 181841 chr6 57015552 57015552 C T rs771929745 ZNF451 Synonymous SNV L882L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 181842 chr6 76589634 76589634 A G rs116571790 MYO6 Synonymous SNV K725K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.902 181843 chr6 7895348 7895348 C T rs58711083 TXNDC5 Nonsynonymous SNV V95I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.902 181844 chr6 80732162 80732162 G A rs16891423 TTK Synonymous SNV P410P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.736 181845 chr6 83667138 83667138 C T rs139765458 UBE3D Nonsynonymous SNV V161I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.99 181846 chr6 83848222 83848222 G A rs150951069 DOP1A Nonsynonymous SNV M1478I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 181847 chr6 83849996 83849996 A G rs145900665 DOP1A Synonymous SNV S1754S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.125 181848 chr6 83851743 83851743 A G rs115360882 DOP1A Nonsynonymous SNV N1831S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.22 181849 chr17 48263000 48263000 C T rs139388334 COL1A1 Nonsynonymous SNV G1420R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 181850 chr6 83905321 83905321 T C RWDD2A Nonsynonymous SNV I70T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.72 181851 chr6 8421060 8421060 T A rs143539087 SLC35B3 Synonymous SNV G160G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 181852 chr6 84284750 84284750 G T rs6941189 SNAP91 Synonymous SNV G500G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 181853 chr6 84910519 84910519 T C CEP162 Nonsynonymous SNV M199V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 181854 chr6 86195098 86195098 C T rs35478984 NT5E Synonymous SNV N299N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 13.49 181855 chr6 86386843 86386843 C T rs79011497 SNHG5 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 181856 chr6 71190668 71190668 G C rs143901584 FAM135A Nonsynonymous SNV V170L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.38 181857 chr17 48917388 48917388 T C rs374081258 WFIKKN2 Synonymous SNV L154L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 181858 chr6 88108084 88108084 C T rs554810245 LINC01590 0 0 0.003 0 0 0 0 1 0 0 0 0 1.85 181859 chr6 90039629 90039629 T C rs114301577 UBE2J1 Synonymous SNV Q242Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 181860 chr6 74115496 74115496 T A rs373879632 DDX43 Nonsynonymous SNV C249S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 181861 chr6 74171732 74171734 CCA - rs772125455 MTO1 T53del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 181862 chr22 50869746 50869746 G A rs781759770 PPP6R2 Nonsynonymous SNV G424R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 181863 chr6 26032190 26032190 G A rs373003967 H3C2 Synonymous SNV T33T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.307 181864 chr6 90461235 90461235 T C rs115558420 MDN1 Nonsynonymous SNV K1048E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 181865 chr17 56285353 56285353 G A rs763534380 MKS1 Nonsynonymous SNV P189L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.3 181866 chr6 27100304 27100304 C T H2BC11 Nonsynonymous SNV G76S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 181867 chr6 97052697 97052697 G C rs35724976 FHL5 Synonymous SNV V77V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.437 181868 chr6 26406327 26406327 G A rs138258145 BTN3A1 Synonymous SNV P92P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.759 181869 chr4 57776846 57776846 G A rs998152062 REST Synonymous SNV G14G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.665 181870 chr7 100004394 100004394 C T rs6970350 ZCWPW1 Nonsynonymous SNV E366K 0.003 0 0.017 0 3 0 0 5 0 0 1 0 26.5 181871 chr7 100017474 100017474 G A rs191203557 ZCWPW1 Nonsynonymous SNV P21S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 181872 chr7 100171733 100171733 C T rs77221373 ZASP Synonymous SNV L149L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.1 181873 chr7 100238750 100238750 C T rs141968146 TFR2 Synonymous SNV A45A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.8 181874 chr3 141671856 141671856 T C rs200737084 TFDP2 Nonsynonymous SNV I216V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.52 181875 chr3 142218546 142218546 T C rs763130593 ATR Nonsynonymous SNV D1704G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.5 181876 chr6 90396528 90396528 G A rs752542153 LOC101929057 0 0.003 0 0 0 1 0 0 0 0 0 0 0.325 181877 chr19 15563555 15563555 C T RASAL3 Synonymous SNV S914S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 181878 chr19 15563557 15563558 AC - RASAL3 E913Dfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 181879 chr19 15563562 15563564 ACG - RASAL3 V912del 0.001 0 0 0 1 0 0 0 0 0 0 0 181880 chr19 15580504 15580504 C A PGLYRP2 Nonsynonymous SNV R527L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 181881 chr6 99790851 99790851 T C rs758577118 FAXC Nonsynonymous SNV N109D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.05 181882 chr7 100027688 100027688 C G rs199973116 MEPCE Nonsynonymous SNV P16R 0 0.008 0 1 0 3 0.003 0 0 0 0 0 26 181883 chrX 53114470 53114470 G A rs781788409 TSPYL2 Nonsynonymous SNV R402K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 181884 chr6 40359843 40359843 C A LRFN2 Nonsynonymous SNV V737F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 181885 chr19 17397477 17397477 G T rs13345098 ANKLE1 Nonsynonymous SNV V583L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.154 181886 chr17 29632439 29632439 G A rs151096117 EVI2B Synonymous SNV S63S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.434 181887 chrX 69263514 69263514 T C rs61735680 AWAT2 Nonsynonymous SNV I96V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.43 181888 chr7 100684675 100684675 C T rs73402901 MUC17 Synonymous SNV D3326D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.735 181889 chr7 100817890 100817890 G A rs150279415 NAT16 Synonymous SNV L67L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 181890 chr7 1026835 1026835 G C rs58781963 CYP2W1 Synonymous SNV T304T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.796 181891 chr7 103338442 103338442 C T rs146922726 RELN Nonsynonymous SNV R334H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.53 181892 chr7 105182995 105182995 G A rs7805216 RINT1 Synonymous SNV A60A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.894 181893 chr7 105653459 105653459 T G rs144577911 CDHR3 Synonymous SNV A314A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 181894 chr7 105733565 105733565 C G rs140128263 SYPL1 Nonsynonymous SNV V141L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 181895 chr7 107323951 107323951 A T rs36039758 SLC26A4 Nonsynonymous SNV N324Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.5 181896 chr7 107558483 107558483 C T rs1803921 DLD Synonymous SNV L352L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 17.37 181897 chr7 107591720 107591720 G A rs25660 LAMB1 Synonymous SNV C1114C 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign 12.27 181898 chr7 107763575 107763575 C T rs7788865 LAMB4 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 181899 chr7 112462201 112462201 T C rs61730653 BMT2 Synonymous SNV L272L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.752 181900 chr7 11415439 11415439 A G rs56264449 THSD7A Synonymous SNV D1652D 0.003 0.005 0.014 2 4 2 0.005 4 0 0 1 0 Benign 1.17 181901 chrX 117106727 117106727 G A rs760182769 KLHL13 Nonsynonymous SNV T22I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.96 181902 chr7 116596582 116596582 C A rs139724929 ST7-OT4 0 0 0.003 0 0 0 0 1 0 0 0 0 9.458 181903 chr7 123092969 123092969 C G rs1525626 IQUB Nonsynonymous SNV R735P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.742 181904 chrX 129203448 129203448 A G rs753073437 ELF4 Synonymous SNV S338S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.437 181905 chr7 123599571 123599571 A G rs142754422 SPAM1 Nonsynonymous SNV T360A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.093 181906 chr3 192517331 192517331 A T MB21D2 Nonsynonymous SNV V107D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.64 181907 chr7 12375766 12375766 C T rs79222040 VWDE 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 181908 chr7 12376842 12376842 C T rs73292361 VWDE Nonsynonymous SNV V1360I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.072 181909 chr7 12380036 12380036 G A rs73292392 VWDE Synonymous SNV C1311C 0 0 0.007 0 0 0 0 2 0 0 0 0 13.68 181910 chr7 12381722 12381722 C - rs111358291 VWDE Q1296Hfs*59 0 0 0.007 0 0 0 0 2 0 0 0 0 181911 chr7 12381736 12381736 G C rs75480945 VWDE Nonsynonymous SNV P1292A 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 181912 chrX 131351271 131351271 A G RAP2C Nonsynonymous SNV L9S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 181913 chr7 12383906 12383906 G A rs61732210 VWDE Synonymous SNV D1216D 0 0 0.007 0 0 0 0 2 0 0 0 0 7.289 181914 chr7 12384038 12384038 T C rs73294382 VWDE Nonsynonymous SNV K1200R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.45 181915 chr6 51524127 51524127 G A rs577357613 PKHD1 Synonymous SNV H3599H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.062 181916 chr7 12409826 12409826 T C rs73300513 VWDE Nonsynonymous SNV I587M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 181917 chr7 12414826 12414826 G C rs73300539 VWDE Nonsynonymous SNV A351G 0 0 0.007 0 0 0 0 2 0 0 0 0 7.815 181918 chr7 126173902 126173902 G C rs61753365 GRM8 Nonsynonymous SNV P307A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 181919 chr6 52343926 52343926 G A rs369468811 EFHC1 Nonsynonymous SNV R457H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 181920 chr7 126746584 126746584 A G rs17866780 GRM8 Synonymous SNV G26G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.529 181921 chr7 12675677 12675677 G C rs35083013 SCIN Nonsynonymous SNV A196P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 181922 chr7 101917531 101917531 G A rs146554363 CUX1 Nonsynonymous SNV R451H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.69 181923 chr7 102098204 102098204 G A rs369230401 ALKBH4 Synonymous SNV S182S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 181924 chr7 127975953 127975953 C G rs11554671 RBM28 Nonsynonymous SNV E112Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.09 181925 chr19 35454533 35454533 C A rs903215986 ZNF792 0.004 0 0 0 5 0 0 0 0 0 0 0 13.42 181926 chr7 129939221 129939221 G A rs61731647 CPA4 Nonsynonymous SNV A88T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.07 181927 chr7 129945751 129945751 G A rs35924272 CPA4 Synonymous SNV T161T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 181928 chrX 151303776 151303776 T A rs762635118 MAGEA10 Nonsynonymous SNV D106V 0 0 0 6 0 0 0.015 0 0 0 0 2 10.83 181929 chr7 134851390 134851390 T C rs35119111 CYREN Synonymous SNV K136K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.889 181930 chr7 134878064 134878064 T C rs34649306 WDR91 Synonymous SNV S552S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.982 181931 chr19 36054148 36054148 G A rs200588214 ATP4A Nonsynonymous SNV A60V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 181932 chr7 117375096 117375096 G C CTTNBP2 Nonsynonymous SNV I1231M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 181933 chr7 135323307 135323307 T G NUP205 Nonsynonymous SNV I1398M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 181934 chr7 135418789 135418789 G A rs151140777 FAM180A Synonymous SNV L152L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 181935 chr7 121678873 121678873 T G PTPRZ1 Nonsynonymous SNV F944C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 181936 chr7 138749656 138749656 C T rs79607947 ZC3HAV1 Synonymous SNV A776A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 181937 chr7 138764245 138764245 T G rs78353839 ZC3HAV1 Nonsynonymous SNV D481A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 181938 chr7 138916293 138916293 G A rs114144182 UBN2 Synonymous SNV E21E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.948 181939 chr7 138916588 138916588 C T rs201451027 UBN2 Nonsynonymous SNV P120S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.04 181940 chr7 138978679 138978679 A G rs28557304 UBN2 Nonsynonymous SNV T1316A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 181941 chr7 139138904 139138904 G A rs186731957 KLRG2 Synonymous SNV G354G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 181942 chr7 139138905 139138905 C A rs191574772 KLRG2 Nonsynonymous SNV G354V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 181943 chr7 140285457 140285457 G A rs61737090 DENND2A Synonymous SNV L393L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.76 181944 chr7 140380884 140380884 G T rs3748092 ADCK2 Nonsynonymous SNV V418L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.914 181945 chr7 140481425 140481425 T C rs56216404 BRAF Synonymous SNV Q461Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.411 181946 chr7 141427004 141427004 A G rs116646867 WEE2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.666 181947 chr7 141867274 141867274 G A rs73547308 MGAM2 Nonsynonymous SNV M1005I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.3 181948 chr19 37733670 37733670 G A rs752492789 ZNF383 Nonsynonymous SNV A178T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 181949 chr7 142569531 142569531 G A rs4987684 TRPV6 Synonymous SNV L743L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.157 181950 chr7 142583145 142583145 C A rs4987603 TRPV6 Synonymous SNV L79L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.583 181951 chr7 142723516 142723516 - AGA rs140452828 OR9A2 F234_S235insF 0 0 0.003 0 0 0 0 1 0 0 0 0 181952 chr6 90380696 90380696 C T rs183262103 MDN1 Nonsynonymous SNV R4633H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 181953 chr7 142961229 142961229 C T rs114578256 GSTK1 Synonymous SNV P41P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 181954 chr7 100479385 100479385 C T rs144415744 SRRT Synonymous SNV D119D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 181955 chr7 138524888 138524888 C T rs201508644 KIAA1549 Nonsynonymous SNV R1863Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 181956 chr18 9570359 9570359 G A PPP4R1 Nonsynonymous SNV H457Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.35 181957 chr7 143079962 143079962 A T rs141742199 ZYX Synonymous SNV A159A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 181958 chr19 38847134 38847134 G A rs776412128 CATSPERG Synonymous SNV V382V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.143 181959 chr7 143080098 143080098 C A rs147284254 ZYX Nonsynonymous SNV L205I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 181960 chr7 143701224 143701224 C T rs61736970 OR6B1 Synonymous SNV I45I 0 0 0.007 0 0 0 0 2 0 0 0 0 9.353 181961 chr7 143747823 143747824 CT - rs147003252 OR2A5 T110Rfs*63 0 0 0.003 0 0 0 0 1 0 0 0 0 181962 chr7 138978680 138978680 C T rs144482794 UBN2 Nonsynonymous SNV T1316M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 181963 chr7 143772218 143772218 G A rs61729541 OR2A25 Synonymous SNV R302R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.103 181964 chr7 148991830 148991830 C T rs535727809 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 6.002 181965 chr7 148991853 148991853 G A rs116246888 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 6.989 181966 chr7 149480669 149480669 C T rs138313701 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 7.347 181967 chr7 149481205 149481205 T C rs73727609 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 3.518 181968 chr7 149484830 149484830 G - rs137977793 SSPO 0 0.003 0.003 0 0 1 0 1 0 0 0 0 181969 chr7 149492449 149492449 C T rs143860181 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 7.165 181970 chr7 149493519 149493519 C T rs57595625 SSPO 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.39 181971 chr7 149498945 149498945 C T rs73727615 SSPO 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.621 181972 chr7 149511970 149511970 - GCCCT rs150373838 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 181973 chr7 149512428 149512428 C A rs116422942 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 6.019 181974 chr5 139193183 139193183 C T rs141578086 PSD2 Nonsynonymous SNV P221S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 181975 chr7 149519700 149519700 C T SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 8.224 181976 chr7 149547273 149547273 G A rs112719493 ZNF862 Synonymous SNV S321S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.41 181977 chr7 149576735 149576735 C T rs10234446 ATP6V0E2 Nonsynonymous SNV T204M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.986 181978 chr19 41188666 41188666 G A rs140220287 NUMBL Synonymous SNV A81A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 181979 chr7 150069514 150069514 G T rs182100722 REPIN1 Nonsynonymous SNV R395L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 181980 chr7 150437979 150437979 G A rs61751052 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV G3R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.944 181981 chr7 150700483 150700483 C G rs143125350 NOS3 Nonsynonymous SNV R613G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.994 181982 chr17 56056605 56056613 TGCTGCTGC - VEZF1 Q352_Q354del 0.001 0 0 0 1 0 0 0 0 0 0 0 181983 chr19 42776097 42776097 C T rs370924769 CIC Synonymous SNV S54S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.81 181984 chr7 150747970 150747970 G A rs140593742 ASIC3 Nonsynonymous SNV M313I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 181985 chr7 14724974 14724974 T C DGKB Nonsynonymous SNV D235G 0 0.003 0 0 0 1 0 0 0 0 0 0 31 181986 chr7 150905101 150905101 G C rs79065292 LOC114483833 Synonymous SNV A104A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.792 181987 chr7 150936219 150936219 C T rs35051203 SMARCD3 Synonymous SNV L474L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.675 181988 chr7 1514364 1514364 C T rs116121226 INTS1 Synonymous SNV V1871V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.95 181989 chr7 151851176 151851176 C T rs73730361 KMT2C Synonymous SNV A4065A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.05 181990 chr18 29867972 29867972 C T rs36093913 GAREM1 Synonymous SNV P196P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 181991 chr7 151874580 151874580 A G rs61730547 KMT2C Nonsynonymous SNV L2653P 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 1.864 181992 chr7 1538147 1538147 G A rs79245429 INTS1 Synonymous SNV I442I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.05 181993 chr7 15427149 15427149 G T rs59160822 AGMO Nonsynonymous SNV S280Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.188 181994 chr7 15427153 15427153 A G rs58564185 AGMO Nonsynonymous SNV F279L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 7.864 181995 chr7 155150675 155150675 G A rs79074317 BLACE 0 0 0.003 0 0 0 0 1 0 0 0 0 0.648 181996 chr5 140726006 140726006 A G rs367835171 PCDHGA3 Synonymous SNV G802G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.825 181997 chr7 155511098 155511098 G A rs114835768 RBM33 Synonymous SNV P407P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 181998 chr7 156433048 156433048 C T rs7787888 LINC01006 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 181999 chr17 59988892 59988892 T C rs201755832 INTS2 Nonsynonymous SNV N315D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.3 182000 chr3 48699577 48699577 C T rs981864833 CELSR3 Nonsynonymous SNV G164D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.147 182001 chr7 1586786 1586786 G A rs201392201 TMEM184A Synonymous SNV S348S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.631 182002 chr3 49455043 49455043 C T rs771853703 AMT Nonsynonymous SNV R337Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 182003 chr7 17861207 17861207 T C rs148741204 SNX13 Synonymous SNV L601L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.414 182004 chr7 18914209 18914209 G T rs17140166 HDAC9 Synonymous SNV V887V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.815 182005 chr7 19184635 19184635 G A rs17140719 FERD3L Synonymous SNV L117L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 182006 chr7 154519514 154519514 A T rs752465979 DPP6 Nonsynonymous SNV H160L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 182007 chr3 50214201 50214201 G A rs970362206 SEMA3F Nonsynonymous SNV D85N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 182008 chr7 154561192 154561192 G A rs370802575 DPP6 Nonsynonymous SNV A210T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.13 182009 chr7 21805127 21805127 A G rs369862935 DNAH11 Nonsynonymous SNV I3008V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 182010 chr7 107398873 107398873 A C rs754835620 CBLL1 Synonymous SNV P241P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.021 182011 chr7 21932056 21932056 T G rs144474011 DNAH11 Nonsynonymous SNV L4174R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 31 182012 chr7 23340557 23340557 G C rs148727123 MALSU1 Nonsynonymous SNV R119T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 182013 chr7 23624648 23624648 A C rs111540643 CLK2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.18 182014 chr7 155596241 155596241 C A SHH Nonsynonymous SNV A248S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.935 182015 chr7 112096070 112096070 T A rs117086064 IFRD1 Synonymous SNV L21L 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 Benign 11.35 182016 chr7 25176205 25176205 C A rs76574574 C7orf31 Nonsynonymous SNV G387C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 182017 chr19 45899427 45899427 T C rs145367370 PPP1R13L Nonsynonymous SNV K301R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 182018 chr19 46257939 46257939 G A rs768979514 BHMG1 Synonymous SNV T253T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.493 182019 chr7 26678881 26678881 G A rs78525926 LINC02860 0.004 0 0.007 0 5 0 0 2 0 0 0 0 12.95 182020 chr19 46289890 46289890 G A rs143916242 DMWD Synonymous SNV N288N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.14 182021 chr19 46307565 46307565 T G rs139826079 RSPH6A Nonsynonymous SNV E533A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 182022 chr7 26765085 26765085 C G rs17154402 SKAP2 Nonsynonymous SNV S81T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 0.116 182023 chr7 26778490 26778490 G A rs34506751 SKAP2 Synonymous SNV S131S 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 13.53 182024 chr7 20689734 20689734 G A rs139633934 ABCB5 Synonymous SNV Q432Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.105 182025 chr7 2752053 2752053 C T rs75954840 AMZ1 Stop gain Q290X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.83 182026 chr7 2752187 2752187 C T AMZ1 Nonsynonymous SNV S391L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 182027 chr7 2854547 2854547 A G rs116515234 GNA12 Synonymous SNV F6F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.56 182028 chr17 72869024 72869024 G T rs371081651 FDXR Synonymous SNV R16R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.36 182029 chr7 30649212 30649212 T C rs7808770 GARS1 Synonymous SNV Y195Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.299 182030 chr7 30668237 30668237 G A rs3886641 GARS1 Synonymous SNV T533T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.77 182031 chr7 23018014 23018014 C T rs149185208 FAM126A Synonymous SNV E69E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.08 182032 chr7 30795242 30795242 G A rs10225477 INMT Synonymous SNV P188P 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 10.42 182033 chr2 25384181 25384181 G C rs559768571 POMC Synonymous SNV P191P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.3 182034 chr17 73236151 73236151 C T rs36073102 GGA3 Synonymous SNV P312P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.92 182035 chr7 23724228 23724228 G A rs780859206 FAM221A Nonsynonymous SNV R59Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.5 182036 chr7 31682629 31682629 G C rs73686905 ITPRID1 Nonsynonymous SNV A549P 0 0 0.007 2 0 0 0.005 2 0 0 0 0 19.21 182037 chr7 31692309 31692309 T C rs115873834 ITPRID1 Synonymous SNV L1001L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.463 182038 chr7 34888110 34888110 G A rs77892941 NPSR1 Stop gain W221X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 182039 chr7 38726491 38726491 A C rs77673600 FAM183BP 0 0 0.007 0 0 0 0 2 0 0 0 0 1.266 182040 chr7 123257670 123257670 T C rs151090515 ASB15 Synonymous SNV D110D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.624 182041 chr7 39606074 39606074 G T rs7777434 YAE1 Synonymous SNV V19V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.22 182042 chr7 3990601 3990601 C T rs10265265 SDK1 Synonymous SNV P298P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 182043 chr7 4167023 4167023 C T rs57371627 SDK1 Synonymous SNV A1278A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 182044 chr3 74350674 74350674 G A rs139861462 CNTN3 Nonsynonymous SNV T657M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 18.23 182045 chr7 44609495 44609495 G A rs778760578 DDX56 Nonsynonymous SNV R338C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 182046 chr10 31138769 31138769 T - rs765247972 ZNF438 I189Lfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 182047 chr10 31138771 31138776 CTGGCT - rs752764350 ZNF438 A187_S188del 0.001 0 0 0 1 0 0 0 0 0 0 0 182048 chr3 88188068 88188068 C T ZNF654 Nonsynonymous SNV R304C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.71 182049 chr7 45122762 45122762 G A rs58222681 NACAD Nonsynonymous SNV A1006V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 182050 chr5 167645819 167645819 C T rs374675014 TENM2 Synonymous SNV D1402D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 182051 chr7 47698560 47698560 G T rs76203945 C7orf65 Nonsynonymous SNV V64L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.965 182052 chr2 36986261 36986261 G A rs61738664 VIT Nonsynonymous SNV G187R 0.011 0.003 0.003 2 13 1 0.005 1 0 0 0 0 2.802 182053 chr7 47847865 47847865 G A rs59848490 PKD1L1 Nonsynonymous SNV L2603F 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.88 182054 chr7 47854977 47854977 G A rs73331721 PKD1L1 Synonymous SNV G2348G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.515 182055 chr7 47873954 47873954 C T rs73331750 PKD1L1 Nonsynonymous SNV A2053T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.86 182056 chr7 47874579 47874579 G C rs79131011 PKD1L1 Nonsynonymous SNV T2038S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.005 182057 chr7 47886583 47886583 T C rs73331766 PKD1L1 Nonsynonymous SNV T1683A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.491 182058 chr7 47930216 47930216 G A rs150638179 PKD1L1 Synonymous SNV L867L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.52 182059 chr7 47937636 47937636 G A rs143353908 PKD1L1 Synonymous SNV L740L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.97 182060 chr7 48056923 48056923 G A rs80031369 SUN3 Nonsynonymous SNV P75L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.9 182061 chr3 98073403 98073403 A G OR5K4 Nonsynonymous SNV K236E 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 182062 chr19 1009189 1009189 A G rs74549450 GRIN3B Nonsynonymous SNV Q907R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.255 182063 chr5 175957711 175957711 G C RNF44 Nonsynonymous SNV R225G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 182064 chr19 1032418 1032418 C T CNN2 Synonymous SNV S71S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 182065 chr7 140301240 140301240 G A rs182310674 DENND2A Synonymous SNV L320L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 182066 chr3 9877127 9877127 T C rs111303148 TTLL3 Nonsynonymous SNV V901A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 182067 chr3 9885433 9885433 C T rs558822896 RPUSD3 Nonsynonymous SNV G2E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.67 182068 chr7 50595920 50595920 G A rs6262 DDC Nonsynonymous SNV P132L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 27.5 182069 chr7 5103773 5103773 G A rs35352738 RBAK Nonsynonymous SNV G229E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.294 182070 chr7 51096473 51096473 T G rs149652199 COBL Nonsynonymous SNV N774H 0 0 0.003 0 0 0 0 1 0 0 0 0 21 182071 chr7 5410904 5410904 C G rs61332709 TNRC18 Synonymous SNV A1107A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.991 182072 chr7 5467569 5467569 C G rs138275524 LOC100129484 Nonsynonymous SNV G104A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 182073 chr7 5529790 5529790 T A rs143962727 FBXL18 Nonsynonymous SNV E685V 0 0 0.007 0 0 0 0 2 0 0 0 0 6.84 182074 chr7 55459501 55459501 A G rs6961412 LANCL2 Nonsynonymous SNV I74V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.578 182075 chr4 103265715 103265715 G A SLC39A8 Synonymous SNV S35S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.04 182076 chr7 6057598 6057598 C A rs34525431 AIMP2 Nonsynonymous SNV L97I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.7 182077 chr7 48312200 48312200 G C rs200327749 ABCA13 Nonsynonymous SNV Q979H 0.005 0.008 0.003 2 6 3 0.005 1 0 0 0 0 Benign 2.505 182078 chr7 6072479 6072479 T C rs9692560 ANKRD61 Nonsynonymous SNV S76P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.184 182079 chr7 64139442 64139442 T C rs73361890 MIR6839 0 0 0.003 0 0 0 0 1 0 0 0 0 6.944 182080 chr10 51028256 51028256 T C rs200756667 PARG Nonsynonymous SNV I497V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.805 182081 chr19 2217786 2217786 G A rs201843576 DOT1L Nonsynonymous SNV A854T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.499 182082 chr7 64388552 64388552 A C rs140481006 ZNF273 Nonsynonymous SNV K282N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.98 182083 chr7 64452532 64452532 T C rs6957874 ERV3-1 Synonymous SNV S291S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.746 182084 chr7 6472558 6472558 C T rs61732628 DAGLB Nonsynonymous SNV R151Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 16.84 182085 chr2 64327580 64327580 C G rs901732549 PELI1 Nonsynonymous SNV Q85H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 182086 chr19 3382189 3382189 C G NFIC Synonymous SNV G170G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.851 182087 chr2 65299720 65299720 C T rs747138066 CEP68 Nonsynonymous SNV S497L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.63 182088 chr7 73020328 73020328 G T rs34922362 MLXIPL Nonsynonymous SNV D244E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 22.9 182089 chr7 73249092 73249092 C T rs73369956 METTL27 Nonsynonymous SNV R240Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.14 182090 chr7 5413975 5413975 G A rs756956239 TNRC18 Synonymous SNV A980A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.489 182091 chr7 73254390 73254390 G A rs73369964 METTL27 Nonsynonymous SNV A150V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 182092 chr5 32087787 32087787 G A rs139053032 PDZD2 Synonymous SNV S1411S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.964 182093 chr19 3806042 3806042 C A ZFR2 Nonsynonymous SNV A909S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.95 182094 chr7 7571355 7571355 A G rs150768519 COL28A1 Nonsynonymous SNV V102A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 182095 chr7 7635995 7635995 G A rs115055951 MIOS Synonymous SNV T664T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 182096 chr7 76953035 76953035 A T rs115276604 GSAP Nonsynonymous SNV F403I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.2 182097 chr7 77579064 77579064 T C rs114105453 PHTF2 Synonymous SNV L595L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.914 182098 chr7 79840339 79840339 C T rs12721454 GNAI1 Synonymous SNV F163F 0 0 0.007 0 0 0 0 2 0 0 0 0 19.4 182099 chr7 80300449 80300449 T G rs3211938 CD36 Stop gain Y286X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 36 182100 chr7 82595435 82595435 T A rs10235352 PCLO Nonsynonymous SNV E1223D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.506 182101 chr7 84727187 84727187 C T rs74445757 SEMA3D Synonymous SNV L82L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.12 182102 chr7 883088 883088 G A rs116520953 SUN1 Nonsynonymous SNV V8M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.46 182103 chr7 73535626 73535626 G A rs781811762 LIMK1 Nonsynonymous SNV D613N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 182104 chr7 73768221 73768221 G A rs528697373 CLIP2 Synonymous SNV T230T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.51 182105 chr7 90895944 90895944 C T rs2232161 FZD1 Synonymous SNV H583H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.23 182106 chr7 91503417 91503417 C T rs17856025 MTERF1 Nonsynonymous SNV A211T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.864 182107 chr7 20824926 20824926 C A rs763964198 SP8 Synonymous SNV S170S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 182108 chr7 91503847 91503847 G A rs17849384 MTERF1 Synonymous SNV D67D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.317 182109 chr7 91632013 91632013 T C rs34370932 AKAP9 Synonymous SNV L928L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 182110 chr7 91726604 91726604 A G rs34956633 AKAP9 Nonsynonymous SNV Q3444R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.5 182111 chr7 92099276 92099276 A G rs138363350 ERVW-1 Synonymous SNV H140H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.071 182112 chr7 92136314 92136314 T C rs76986636 PEX1 Synonymous SNV G599G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.872 182113 chr7 92147017 92147017 T C rs138183109 PEX1 Nonsynonymous SNV N271S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 182114 chr7 77797234 77797234 T C rs761977129 MAGI2 Synonymous SNV G851G 0 0.005 0 0 0 2 0 0 0 0 0 0 11.56 182115 chr7 24849492 24849492 A C rs780670713 OSBPL3 Nonsynonymous SNV F684V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 182116 chr19 6392906 6392906 G T rs151336104 GTF2F1 Nonsynonymous SNV S7R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 182117 chr19 6392908 6392908 T C rs140541374 GTF2F1 Nonsynonymous SNV S7G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.233 182118 chr19 6392910 6392910 G A rs150462935 GTF2F1 Nonsynonymous SNV P6L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 182119 chr7 2578307 2578307 C T rs138077616 BRAT1 Nonsynonymous SNV R446Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 21.5 182120 chr7 95906627 95906627 A G rs78430478 SLC25A13 Synonymous SNV G31G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.984 182121 chr7 97822873 97822873 C T rs58147304 LMTK2 Synonymous SNV Y1032Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.02 182122 chr7 97822990 97822990 G A rs56064038 LMTK2 Synonymous SNV P1071P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.7 182123 chr7 98453693 98453693 G A rs151048233 TMEM130 Nonsynonymous SNV T120M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.551 182124 chr7 98645415 98645415 G A rs59459375 SMURF1 Synonymous SNV Y348Y 0 0 0.007 0 0 0 0 2 0 0 1 0 14.91 182125 chr7 99022880 99022880 G T rs80070442 ATP5MF-PTCD1, PTCD1 Synonymous SNV A425A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.046 182126 chr7 99217517 99217517 C T rs61737531 ZSCAN25 Synonymous SNV R96R 0 0 0.01 0 0 0 0 3 0 0 1 0 8.174 182127 chr7 99250393 99250393 - A rs41303343 CYP3A5 Frameshift insertion T346Yfs*3 0 0 0.01 0 0 0 0 3 0 0 1 0 182128 chr7 99269401 99269401 A C rs6957030 CYP3A5 Nonsynonymous SNV L140R 0 0 0.007 0 0 0 0 2 0 0 1 0 1.225 182129 chr7 99270539 99270539 C T rs776746 CYP3A5 0 0 0.031 0 0 0 0 9 0 0 1 0 drug response 3.375 182130 chr8 100874140 100874140 A G rs138667007 VPS13B Synonymous SNV R3752R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.257 182131 chr8 101075708 101075708 A C rs138159608 RGS22 Nonsynonymous SNV Y249D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 182132 chr8 101154066 101154066 G A rs2279102 FBXO43 Nonsynonymous SNV P139L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.5 182133 chr8 101196856 101196856 G C rs35305781 SPAG1 Nonsynonymous SNV G199A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 21.4 182134 chr8 101620783 101620783 G T rs149348754 SNX31 Nonsynonymous SNV A108D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 182135 chr8 102381673 102381673 T C rs10095458 NACA4P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.174 182136 chr8 102701611 102701611 T C rs61732857 NCALD Nonsynonymous SNV I170V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 182137 chr8 104054603 104054603 T C rs7009365 ATP6V1C1 Synonymous SNV D56D 0.003 0 0.003 0 3 0 0 1 1 0 0 0 6.718 182138 chr3 10452330 10452330 G A rs779821154 ATP2B2 Synonymous SNV F123F 0 0 0 2 0 0 0.005 0 0 0 0 0 9.401 182139 chr8 104394710 104394710 G T rs35877609 CTHRC1 Nonsynonymous SNV G191V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 182140 chr19 8003020 8003020 T C rs149589250 TIMM44 Synonymous SNV K68K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.308 182141 chr8 10464679 10464679 C T RP1L1 Stop gain W2310X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 182142 chr7 95157442 95157442 C T ASB4 Nonsynonymous SNV H269Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 182143 chr8 104664457 104664457 A G rs371689552 RIMS2 Synonymous SNV Q67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 182144 chr19 8127101 8127101 G A CCL25 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 182145 chr8 10467605 10467652 CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCG - rs746122572 RP1L1 A1319_E1334del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 182146 chr7 98509776 98509776 G T rs782601624 TRRAP Synonymous SNV L713L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.123 182147 chr8 105456597 105456597 T C rs7825427 DPYS Synonymous SNV A224A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 9.506 182148 chr8 10555189 10555189 C T rs61742975 C8orf74 Synonymous SNV L108L 0.003 0 0.01 1 4 0 0.003 3 0 0 0 0 12.16 182149 chr8 10622930 10622930 T C rs61746595 PINX1 Nonsynonymous SNV K323R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 182150 chr19 8389377 8389377 C T rs201475294 KANK3 Nonsynonymous SNV A780T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 182151 chr7 24859831 24859831 C T rs770244593 OSBPL3 Synonymous SNV A570A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 182152 chr7 99811390 99811390 C T rs139373770 STAG3 Synonymous SNV R1152R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 182153 chr5 74916145 74916145 C T rs541289429 ANKDD1B Synonymous SNV N101N 0.004 0 0 0 5 0 0 0 0 0 0 0 11.83 182154 chr8 110455956 110455956 C G rs7820062 PKHD1L1 Nonsynonymous SNV T1539R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 182155 chr8 110598320 110598320 C T rs35788012 SYBU Nonsynonymous SNV A37T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.751 182156 chr8 110656396 110656396 G T rs7817773 LOC100132813 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 2.316 182157 chr8 110657391 110657391 G C rs77335041 LOC100132813 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 20.2 182158 chr8 114326853 114326853 G A rs35125143 CSMD3 Synonymous SNV Y116Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.606 182159 chr8 11607721 11607721 C T rs143109496 GATA4 Synonymous SNV C296C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.51 182160 chr8 11614502 11614502 C T rs3729855 GATA4 Synonymous SNV N353N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 6.713 182161 chr8 11619320 11619320 T G rs73663003 C8orf49 Nonsynonymous SNV L133R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 182162 chr8 11619325 11619325 T G rs73663004 C8orf49 Nonsynonymous SNV F135V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 182163 chr8 11706560 11706560 C T rs1137069 CTSB Synonymous SNV G147G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.006 182164 chr8 118184784 118184784 G A rs16889462 SLC30A8 Nonsynonymous SNV R325Q 0 0 0.007 0 0 0 0 2 0 0 0 0 19.95 182165 chr19 57665822 57665822 G - rs151293806 DUXA F192Sfs*22 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 182166 chr8 105105808 105105808 G A rs371895487 RIMS2 Nonsynonymous SNV R985H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.51 182167 chr11 100998531 100998531 G C rs772278936 PGR Nonsynonymous SNV P424R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.3 182168 chr8 120942054 120942054 G C rs772552810 DEPTOR 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 182169 chr8 121706036 121706036 G C rs58509927 SNTB1 Nonsynonymous SNV D228E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 182170 chr7 48278955 48278955 A G ABCA13 Nonsynonymous SNV K339E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.75 182171 chr8 124382182 124382182 - TCATCG rs764198490 ATAD2 D277_E278insDD 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 182172 chr8 124440235 124440235 C G rs34533564 WDYHV1 Nonsynonymous SNV A52G 0 0 0.007 0 0 0 0 2 0 0 1 0 27 182173 chr8 124799918 124799918 T C rs148424136 FAM91A1 Synonymous SNV H160H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.874 182174 chr8 124811801 124811801 T C rs137915247 FAM91A1 Synonymous SNV F292F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.735 182175 chr8 125094652 125094652 C T rs7835106 FER1L6 Synonymous SNV F1448F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.4 182176 chr8 110471843 110471843 G A rs771453720 PKHD1L1 Nonsynonymous SNV E2342K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.1 182177 chr8 125988945 125988945 T A rs148896330 ZNF572 Synonymous SNV S145S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.256 182178 chr8 126091074 126091074 T C rs150026441 WASHC5 Nonsynonymous SNV N58S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.051 182179 chr8 128098991 128098991 - T rs374552604 PRNCR1 0 0 0.003 0 0 0 0 1 0 0 0 0 182180 chr19 9046464 9046464 G T MUC16 Nonsynonymous SNV P11723T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.394 182181 chr8 128960543 128960543 G A rs116818608 TMEM75 0 0 0.003 0 0 0 0 1 0 0 0 0 5.761 182182 chr8 131072947 131072947 A G rs138353658 ASAP1 Synonymous SNV L967L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.096 182183 chr8 118825138 118825138 G C EXT1 Nonsynonymous SNV D565E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 182184 chr8 133759243 133759243 T A rs73343494 TMEM71 Nonsynonymous SNV E144D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.999 182185 chr8 133829692 133829692 G A rs35409494 PHF20L1 Nonsynonymous SNV R468H 0 0 0.003 0 0 0 0 1 0 0 0 0 17 182186 chr8 133910461 133910461 C A rs11992497 TG Nonsynonymous SNV L1063M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 24.1 182187 chr20 307202 307202 G A rs562098614 SOX12 Nonsynonymous SNV A212T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 7.298 182188 chr8 133961086 133961088 GAT - rs112749206 TG D1767del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 182189 chr4 2307011 2307011 C T rs141026999 ZFYVE28 Synonymous SNV A322A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.791 182190 chr8 133961157 133961157 A G rs73710715 TG Nonsynonymous SNV I1790M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.002 182191 chr8 134107312 134107312 G A rs73354644 TG Nonsynonymous SNV A2422T 0 0 0.014 0 0 0 0 4 0 0 1 0 Likely benign 11.73 182192 chr8 134225160 134225160 C T rs73711808 CCN4 Synonymous SNV D41D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 182193 chr8 134233039 134233039 G A rs73711822 CCN4 Nonsynonymous SNV A189T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.405 182194 chr8 134239713 134239713 G A rs34279368 CCN4 Nonsynonymous SNV G137R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 182195 chr8 13424602 13424602 T G rs149488225 C8orf48 Synonymous SNV T34T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.872 182196 chr4 2958490 2958490 A G rs147697443 NOP14 Synonymous SNV L127L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.234 182197 chr8 140630588 140630588 G A rs76573007 KCNK9 Synonymous SNV L346L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.244 182198 chr8 141461119 141461119 G A rs184612763 TRAPPC9 Synonymous SNV F118F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.314 182199 chr8 142161819 142161819 G A rs77142252 DENND3 Synonymous SNV P319P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.27 182200 chr8 142204293 142204293 C T rs113203930 DENND3 Synonymous SNV G1266G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 182201 chr8 142204312 142204312 G A rs199951582 DENND3 Nonsynonymous SNV A1273T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 182202 chr19 966607 966607 C T rs143073569 ARID3A Nonsynonymous SNV R412C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 182203 chr8 143846525 143846525 G A rs36031063 LYNX1-SLURP2, SLURP2 Nonsynonymous SNV T29M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 182204 chr8 144099709 144099709 C A rs114909654 LY6E-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 182205 chr8 144124384 144124384 G A rs57108684 C8orf31 0 0 0.003 0 0 0 0 1 0 0 0 0 1.45 182206 chr11 102985957 102985957 G A rs199960819 DYNC2H1 Nonsynonymous SNV R185H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 182207 chr8 144450426 144450426 T G rs75572819 RHPN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.362 182208 chr8 144659298 144659298 C T rs373729246 NAPRT Synonymous SNV P206P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 182209 chr11 104820433 104820433 T G rs56326166 CASP4 Synonymous SNV V206V 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 4.948 182210 chr8 139158274 139158274 C T rs147305959 FAM135B Synonymous SNV R1156R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.767 182211 chr8 144689198 144689198 C T rs61735421 PYCR3 Synonymous SNV E87E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.511 182212 chr8 139164066 139164066 G A rs112196595 FAM135B Synonymous SNV R884R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.962 182213 chr8 139164360 139164360 C T rs182844278 FAM135B Synonymous SNV A786A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.36 182214 chr8 139164399 139164399 A G rs148250978 FAM135B Synonymous SNV A773A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.548 182215 chr8 139164523 139164523 T C rs202075652 FAM135B Nonsynonymous SNV H732R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.471 182216 chr8 144808514 144808514 G A rs112740523 FAM83H Synonymous SNV D1039D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.988 182217 chr8 141716248 141716248 T G rs147531538 PTK2 Synonymous SNV P43P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.938 182218 chr7 6590670 6590670 C T rs9690195 GRID2IP Nonsynonymous SNV R133H 0.009 0 0.007 0 10 0 0 2 5 0 1 0 24 182219 chr7 91753165 91753165 C A rs765961879 CYP51A1 Nonsynonymous SNV R258L 0.004 0 0 0 5 0 0 0 0 0 0 0 26.1 182220 chr8 145667648 145667648 G A rs112264814 TONSL Synonymous SNV S242S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 182221 chr8 145730055 145730055 G A rs116684584 GPT Synonymous SNV R77R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.43 182222 chr8 145742038 145742038 G C rs116137512 RECQL4 Synonymous SNV V155V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.477 182223 chr19 12223966 12223966 G C ZNF788P Nonsynonymous SNV R535P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 182224 chr19 12224193 12224193 G A ZNF788P Nonsynonymous SNV E611K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 182225 chr19 12224200 12224200 C A ZNF788P Nonsynonymous SNV P613H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 182226 chr19 12224201 12224201 C A ZNF788P Synonymous SNV P613P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 182227 chr8 146071415 146071415 C T rs752085001 ZNF7 Nonsynonymous SNV P100L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.538 182228 chr8 146107656 146107656 C T rs142189210 ZNF250 Synonymous SNV R288R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.924 182229 chr8 146156729 146156729 T C rs142394771 ZNF16 Nonsynonymous SNV I482V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.387 182230 chr19 12883057 12883057 T C HOOK2 Nonsynonymous SNV K156E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 182231 chr8 146202395 146202395 C G rs59130291 ZNF252P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 182232 chr8 146278811 146278811 C A rs143066702 C8orf33 Nonsynonymous SNV L178M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 182233 chr8 17157649 17157649 A G rs746509014 MTMR7 Nonsynonymous SNV S569P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 182234 chr8 1719494 1719494 C T rs34030778 CLN8 Nonsynonymous SNV H92Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.002 182235 chr19 14675660 14675660 C T rs117833765 TECR Synonymous SNV Y184Y 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 Likely benign 7.668 182236 chr8 17415826 17415826 C T rs148874201 SLC7A2 Synonymous SNV D406D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.46 182237 chr8 17415898 17415898 C T rs77588963 SLC7A2 Synonymous SNV L430L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 182238 chr8 1765409 1765409 C T rs116450906 MIR596 0 0 0.007 0 0 0 0 2 0 0 0 0 2.038 182239 chr8 17820758 17820758 G T rs7009117 PCM1 Nonsynonymous SNV G871V 0 0 0.01 0 0 0 0 3 0 0 0 0 27.1 182240 chr8 1893794 1893794 G A rs142179481 ARHGEF10 Nonsynonymous SNV A1086T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 182241 chr8 19221784 19221784 A G rs35319139 SH2D4A Nonsynonymous SNV K258R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.753 182242 chr8 195990 195990 T C rs73521331 ZNF596 Synonymous SNV H381H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.042 182243 chr8 20036819 20036819 C G rs17222218 SLC18A1 Nonsynonymous SNV A101P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.919 182244 chr11 118971443 118971443 A G DPAGT1 Synonymous SNV A131A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 182245 chr19 4491821 4491821 C T rs369359811 HDGFL2 Nonsynonymous SNV R223W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 182246 chr8 2050564 2050564 G A rs34460811 MYOM2 Synonymous SNV A909A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.756 182247 chr8 21983190 21983190 G A rs78703240 HR Synonymous SNV C487C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.297 182248 chr4 68424562 68424562 G A rs141647540 STAP1 Nonsynonymous SNV R12H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 182249 chr4 68527935 68527935 G C UBA6 Nonsynonymous SNV T359R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 182250 chr4 68703959 68703959 C T rs140680440 TMPRSS11D Nonsynonymous SNV E136K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.989 182251 chr8 22428488 22428488 G A rs34185625 SORBS3 Synonymous SNV T157T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.36 182252 chr8 22472473 22472473 G A rs112997942 CCAR2 Synonymous SNV A388A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.35 182253 chr6 143091241 143091241 G A rs763911764 HIVEP2 Synonymous SNV S1545S 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 0.161 182254 chr8 22995511 22995511 T G rs34622674 TNFRSF10D Nonsynonymous SNV T345P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.029 182255 chr8 24178738 24178738 G T rs9314282 ADAM28 Nonsynonymous SNV R219M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 182256 chr8 24188804 24188804 G A rs10113646 ADAM28 Synonymous SNV V415V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.355 182257 chr8 24197034 24197034 C T rs10097588 ADAM28 Synonymous SNV Y541Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.065 182258 chr8 24256389 24256389 A T rs7001097 ADAMDEC1 Synonymous SNV I176I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.207 182259 chr8 24256512 24256512 T C rs7005258 ADAMDEC1 Synonymous SNV S217S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.037 182260 chr8 24259600 24259600 C T rs76707982 ADAMDEC1 Nonsynonymous SNV P360S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.6 182261 chr8 24261518 24261518 G A rs61731545 ADAMDEC1 Synonymous SNV E362E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.38 182262 chr8 25159879 25159879 C T rs149586717 DOCK5 Synonymous SNV S295S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 182263 chr8 1616577 1616577 G A rs78753621 DLGAP2 Synonymous SNV A631A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.19 182264 chr7 99705181 99705181 G A rs145939245 TAF6 Synonymous SNV T611T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 8.532 182265 chr8 27457512 27457512 T G rs9331936 CLU Nonsynonymous SNV N317H 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 21.4 182266 chr8 27468005 27468005 G A rs9331892 CLU Synonymous SNV D28D 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 1.037 182267 chr8 27931893 27931893 G A rs74881103 NUGGC Nonsynonymous SNV P12L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.669 182268 chr11 124095801 124095801 G T rs370531585 OR8G2P Nonsynonymous SNV R135L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.927 182269 chr8 2823317 2823317 G A rs150713388 CSMD1 Nonsynonymous SNV P3087L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 182270 chr19 7621573 7621573 A G PNPLA6 Synonymous SNV T1081T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.592 182271 chr19 7675490 7675490 C T CAMSAP3 Nonsynonymous SNV P297S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 182272 chr8 29990201 29990201 C T rs61745343 MBOAT4 Nonsynonymous SNV R189H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.17 182273 chr8 20036707 20036707 C A rs148468662 SLC18A1 Nonsynonymous SNV R138L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 182274 chr8 30416431 30416431 A G rs10088145 RBPMS Nonsynonymous SNV T186A 0 0 0.007 0 0 0 0 2 0 0 1 0 20.2 182275 chr8 30700638 30700638 C T rs112636382 TEX15 Nonsynonymous SNV E2349K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 182276 chr11 124857340 124857340 G T rs34584478 CCDC15 Synonymous SNV V406V 0.008 0.01 0.017 3 9 4 0.008 5 0 0 1 0 1.787 182277 chr8 30703018 30703018 T C rs115950103 TEX15 Synonymous SNV A1555A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.286 182278 chr8 10465920 10465967 TTCTGCCTCTGGGGTCTCTACATCTTCTGACTCTGGCTGGGCCTCTCC - rs760758693 RP1L1 G1881_E1896del 0.001 0 0 0 1 0 0 0 0 0 0 0 182279 chr8 30969283 30969283 T G rs2230011 WRN Synonymous SNV L747L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.982 182280 chr8 3141723 3141723 G A rs58993422 CSMD1 Synonymous SNV L1366L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 10.35 182281 chr8 10480463 10480463 T C rs201392821 RP1L1 Synonymous SNV T83T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 4.888 182282 chr8 328469 328469 C - rs138294614 FAM87A 0 0 0.01 0 0 0 0 3 0 0 0 0 182283 chr8 33246891 33246891 A G rs16880853 FUT10 Nonsynonymous SNV Y268H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.962 182284 chr8 37822860 37822860 G A rs4996 ADRB3 Synonymous SNV R376R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.446 182285 chr8 38126477 38126477 - TCTC rs372379142 PLPP5 Frameshift insertion L36Efs*91 0 0 0.003 0 0 0 0 1 0 0 0 0 182286 chr8 38137182 38137182 G A rs115624738 NSD3 Synonymous SNV A1212A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.76 182287 chr8 38264516 38264516 A G rs112258553 LETM2 Nonsynonymous SNV E376G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 182288 chr8 38386113 38386113 T A rs73599940 C8orf86 Nonsynonymous SNV I15F 0.002 0 0.01 0 2 0 0 3 0 0 1 0 0.911 182289 chr8 38832610 38832610 A T rs116529031 HTRA4 Nonsynonymous SNV K176M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 182290 chr8 39331097 39331097 - T rs11391917 ADAM3A 0 0 0.003 0 0 0 0 1 0 0 0 0 182291 chr8 39494828 39494828 G T rs10093794 ADAM18 Nonsynonymous SNV V212F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.409 182292 chr8 39495074 39495074 T C rs10112294 ADAM18 Synonymous SNV L203L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.897 182293 chr8 39564367 39564367 A G rs76766907 ADAM18 Nonsynonymous SNV K630R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 182294 chr4 8583047 8583047 G T GPR78 Nonsynonymous SNV R113L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.1 182295 chr8 41507964 41507964 C T rs62640047 NKX6-3 Synonymous SNV L16L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 182296 chr8 41790824 41790824 G A rs61740920 KAT6A Synonymous SNV C1638C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.327 182297 chr8 42591735 42591735 A G rs35327613 CHRNB3 Nonsynonymous SNV K451E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 22.2 182298 chr8 43052839 43052839 A C rs73569592 HGSNAT Nonsynonymous SNV K459Q 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign/Likely benign 10.67 182299 chr8 43197438 43197438 T A rs73561413 POTEA Nonsynonymous SNV L397M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.268 182300 chr8 47753913 47753913 C T rs140108918 LINC00293 0 0 0.003 0 0 0 0 1 0 0 0 0 5.115 182301 chr8 48102331 48102331 C T rs10081425 LOC100287846 0 0 0.007 0 0 0 0 2 0 0 1 0 5.047 182302 chr8 48102390 48102390 C T rs73581099 LOC100287846 0 0 0.003 0 0 0 0 1 0 0 0 0 0.226 182303 chr8 55370971 55370971 A T rs10104846 SOX17 Synonymous SNV P91P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.817 182304 chr8 55538697 55538697 C T rs28399531 RP1 Nonsynonymous SNV T752M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 182305 chr8 55539433 55539433 T C rs112667487 RP1 Synonymous SNV N997N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.003 182306 chr19 19655286 19655286 C G rs930784284 CILP2 Synonymous SNV S644S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.802 182307 chr19 19770711 19770711 T C rs752114271 ATP13A1 Nonsynonymous SNV N161S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 182308 chr8 56910928 56910928 C T rs2227978 LYN Synonymous SNV I337I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.98 182309 chr20 57598870 57598870 C G rs202177647 TUBB1 Nonsynonymous SNV L130V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 182310 chr8 29202943 29202943 G A rs199684767 DUSP4 Nonsynonymous SNV A35V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.489 182311 chr20 58330325 58330325 A C PHACTR3 Synonymous SNV S146S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 182312 chr4 90169684 90169684 G C rs147339057 GPRIN3 Nonsynonymous SNV S526R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.343 182313 chr6 170871054 170871061 AGCAGCAG ACAGCAG TBP Q57Hfs*67 0.003 0 0 0 3 0 0 0 0 0 0 0 182314 chr11 134237185 134237185 C T rs147686340 GLB1L2 Nonsynonymous SNV T280M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 182315 chr20 60891966 60891966 G A LAMA5 Nonsynonymous SNV A2542V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 182316 chr20 60899195 60899195 C T rs115089352 LAMA5 Synonymous SNV R1903R 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 12.56 182317 chr8 6479646 6479646 C A rs28519374 MIR8055 0 0 0.003 0 0 0 0 1 0 0 0 0 4.311 182318 chr8 6668953 6668953 G A rs114726219 XKR5 Synonymous SNV G609G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.208 182319 chr8 6690282 6690282 A G rs200406036 XKR5 Nonsynonymous SNV S67P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.711 182320 chr8 37620145 37620145 G T rs756281756 PLPBP Nonsynonymous SNV G25W 0 0.003 0 0 0 1 0 0 0 0 0 0 3.375 182321 chr3 27763770 27763770 G C rs200789175 EOMES Nonsynonymous SNV Q6E 0.001 0 0.01 3 1 0 0.008 3 0 0 0 0 Likely benign 13.49 182322 chr8 6793585 6793585 A G rs146967029 DEFA4 Nonsynonymous SNV I84T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.359 182323 chr20 60942087 60942095 CCGCGCGCC - rs200558507 LAMA5 A70_G72del 0.006 0 0.003 3 7 0 0.008 1 0 0 0 0 182324 chr8 70744147 70744147 G A rs35318751 SLCO5A1 Synonymous SNV D254D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.147 182325 chr20 60985937 60985937 G T rs1003391158 RBBP8NL Synonymous SNV T664T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.052 182326 chr8 72756545 72756559 AAGCGCGGGGTGAGA - rs532591464 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 182327 chr8 73480125 73480125 G T rs34259157 KCNB2 Synonymous SNV T52T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 5.313 182328 chr8 75233214 75233214 G A rs79761162 JPH1 Synonymous SNV P103P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.87 182329 chr8 75615899 75615899 T C rs73687251 MIR2052HG 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 182330 chr8 77764073 77764073 C T rs28376707 ZFHX4 Nonsynonymous SNV A1639V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.732 182331 chr8 80553740 80553740 G A rs73256023 STMN2 Synonymous SNV L81L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 182332 chr8 8175868 8175868 C T rs114026601 PRAG1 Synonymous SNV S1339S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 182333 chr8 8176051 8176051 G A rs114220337 PRAG1 Synonymous SNV Y1278Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.16 182334 chr20 62164009 62164009 C T rs367671297 PTK6 Synonymous SNV S234S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.77 182335 chr8 86392989 86392989 A G rs2228063 CA2 Nonsynonymous SNV N151D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.46 182336 chr8 6302832 6302832 A T rs200823026 MCPH1 Nonsynonymous SNV E482V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 13.44 182337 chr8 87163761 87163761 G A rs4263741 ATP6V0D2 Nonsynonymous SNV E295K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 182338 chr8 87226647 87226647 C T rs9693999 SLC7A13 Nonsynonymous SNV E470K 0 0 0.003 0 0 0 0 1 0 0 0 0 21 182339 chr8 87229780 87229780 C T rs112739579 SLC7A13 Synonymous SNV T366T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 182340 chr8 87229948 87229948 T G rs4621787 SLC7A13 Synonymous SNV S310S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.269 182341 chr8 87242372 87242372 G C rs77604575 SLC7A13 Nonsynonymous SNV N45K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 182342 chr8 87414308 87414308 A G rs10106066 WWP1 Synonymous SNV Q200Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.598 182343 chr8 8749837 8749837 G A MFHAS1 Synonymous SNV A244A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 182344 chr19 9087832 9087832 G A MUC16 Nonsynonymous SNV T1328M 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 4.615 182345 chr8 87680295 87680295 C T rs114305748 CNGB3 Nonsynonymous SNV E199K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.343 182346 chr8 95272620 95272620 G A rs35262320 GEM Nonsynonymous SNV H38Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.46 182347 chr8 95651113 95651113 G T rs75270897 LOC100288748 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 182348 chr8 95780683 95780683 T G rs144957197 DPY19L4 Nonsynonymous SNV F412L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.944 182349 chr8 95897369 95897369 C G rs138838315 CCNE2 Nonsynonymous SNV V253L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 182350 chr8 95942773 95942773 G A rs77630257 TP53INP1 Synonymous SNV H219H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.088 182351 chr8 96085026 96085026 A C rs112347308 MIR3150BHG 0 0 0.003 0 0 0 0 1 0 0 0 0 0.341 182352 chr8 9759876 9759876 G A rs1708879 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 182353 chr8 9760822 9760822 G A rs73662598 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 5.142 182354 chr8 97797538 97797538 G A rs34088584 CPQ Nonsynonymous SNV S138N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.1 182355 chr8 99030247 99030247 C A rs192151558 MATN2 Nonsynonymous SNV D533E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 182356 chr8 99169923 99169923 C T rs111665863 POP1 Synonymous SNV P833P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.912 182357 chr8 99169956 99169956 T C rs12541183 POP1 Synonymous SNV A844A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.177 182358 chr9 100079386 100079386 G A rs41281928 CCDC180 Nonsynonymous SNV A323T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 182359 chr9 100234702 100234702 A G rs115297535 TDRD7 Synonymous SNV S549S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.535 182360 chr9 100367810 100367810 G A rs1928641 TSTD2 Synonymous SNV T356T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 182361 chr9 100367813 100367813 A G rs1928642 TSTD2 Synonymous SNV C355C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.118 182362 chr19 37117334 37117334 A G ZNF382 Nonsynonymous SNV I178V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 182363 chr9 100420976 100420976 G A rs2297155 NCBP1 Synonymous SNV L106L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 182364 chr8 82439319 82439319 A G rs980285877 FABP12 Nonsynonymous SNV V95A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 182365 chr9 100961769 100961769 C T rs61748711 TBC1D2 Nonsynonymous SNV R434Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.06 182366 chr9 100983329 100983329 G A rs61753563 TBC1D2 Nonsynonymous SNV A387V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.511 182367 chr9 101147997 101147997 G A rs3205936 GABBR2 Synonymous SNV L529L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 11.68 182368 chr21 33709801 33709801 C G rs370600933 URB1 Synonymous SNV L1511L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 7.896 182369 chr5 132046694 132046694 C T KIF3A Synonymous SNV E395E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.571 182370 chr21 34399761 34399761 C A OLIG2 Synonymous SNV P197P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 182371 chr19 38055677 38055677 A T rs776398246 ZNF571 Synonymous SNV T551T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.202 182372 chr9 1056517 1056517 C G rs16928356 DMRT2 Synonymous SNV T136T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.709 182373 chr9 107298147 107298147 T C rs74894567 OR13C3 Synonymous SNV V316V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.945 182374 chr8 95952409 95952411 TCT - rs563445319 TP53INP1 E52del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 182375 chr9 107581042 107581042 G A rs35204915 ABCA1 Synonymous SNV L1122L 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign 10.16 182376 chr8 99224642 99224642 C T rs143042849 NIPAL2 Nonsynonymous SNV A216T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 182377 chr9 110250171 110250171 G A rs34660570 KLF4 Synonymous SNV G168G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.355 182378 chr8 145024394 145024394 G T PLEC Synonymous SNV R161R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.376 182379 chr21 38115689 38115689 G A rs143650216 SIM2 Nonsynonymous SNV E334K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 182380 chr9 111653606 111653606 C T rs2230795 ELP1 Nonsynonymous SNV G664S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 28.9 182381 chr9 111685129 111685129 A T rs10521092 ELP1 Nonsynonymous SNV M68K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.02 182382 chr9 111693338 111693338 T C rs528897110 ELP1, ELP1 Nonsynonymous SNV Q30R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.139 182383 chr9 111735031 111735031 G C rs16913734 CTNNAL1 Nonsynonymous SNV T424S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.69 182384 chr9 111849575 111849575 G A rs75948484 TMEM245 Synonymous SNV L400L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.165 182385 chr11 369844 369844 - GCTGCT B4GALNT4 L22_S23insLL 0.001 0 0 0 1 0 0 0 0 0 0 0 182386 chr9 112200423 112200423 T C rs138152923 PTPN3 Synonymous SNV T55T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.787 182387 chr19 39787450 39787450 G C rs142971889 IFNL1 Nonsynonymous SNV E59D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 182388 chr9 112900372 112900372 A G rs35935397 PALM2-AKAP2 Nonsynonymous SNV K708E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 22.8 182389 chr9 113151822 113151822 C T rs73655337 SVEP1 Nonsynonymous SNV G3290R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.82 182390 chr9 113168587 113168587 C T rs73655342 SVEP1 Nonsynonymous SNV G3098D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 21.6 182391 chr9 113170425 113170425 G A rs73655343 SVEP1 Synonymous SNV H2485H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.138 182392 chr9 113173717 113173717 T C rs56291458 SVEP1 Nonsynonymous SNV S2092G 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 5.731 182393 chr9 101785675 101785675 G A rs145460696 COL15A1 Nonsynonymous SNV G600S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.68 182394 chr9 104190765 104190765 T C rs149112046 ALDOB Nonsynonymous SNV E122G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 182395 chr9 116353618 116353618 C T rs61558718 RGS3 Synonymous SNV S328S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 182396 chr9 107267174 107267174 A G rs145392760 OR13F1 Nonsynonymous SNV M211V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.103 182397 chr9 107298899 107298899 G T rs768125509 OR13C3 Nonsynonymous SNV L66I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.97 182398 chr9 116930620 116930620 C A rs148242800 COL27A1 Nonsynonymous SNV S262Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.31 182399 chr9 116930628 116930628 G A rs34578955 COL27A1 Nonsynonymous SNV A265T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.838 182400 chr9 116930880 116930880 C T rs34973417 COL27A1 Nonsynonymous SNV R349C 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 18.82 182401 chr9 117103838 117103838 T C rs59274247 AKNA Nonsynonymous SNV I1229V 0 0 0.01 2 0 0 0.005 3 0 0 0 0 0.013 182402 chr9 117165599 117165599 C T rs61743618 WHRN Synonymous SNV T462T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.96 182403 chr9 117168825 117168825 C G rs35258467 WHRN Synonymous SNV R331R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.071 182404 chr9 117359932 117359932 G A rs61742531 ATP6V1G1 Nonsynonymous SNV R89Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.478 182405 chr19 42854515 42854515 G C MEGF8 Synonymous SNV R838R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.454 182406 chr9 118950097 118950097 C T PAPPA Synonymous SNV L360L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.689 182407 chr9 119109468 119109468 G A rs116551272 PAPPA Nonsynonymous SNV R1315H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 182408 chr9 119249690 119249690 C T rs16933591 ASTN2 Nonsynonymous SNV V201I 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 22.8 182409 chr9 121930388 121930388 C T rs35224314 BRINP1 Synonymous SNV T420T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.98 182410 chr9 123632050 123632050 G A rs112858270 PHF19 Stop gain Q180X 0 0 0.003 0 0 0 0 1 0 0 0 0 5.498 182411 chr9 123739072 123739072 G C rs141704823 C5 Nonsynonymous SNV T1263S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 182412 chr9 123912542 123912542 T G rs7857010 CNTRL Synonymous SNV T696T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.815 182413 chr9 124074641 124074641 A G rs11550199 GSN Nonsynonymous SNV N231D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.779 182414 chr9 124633018 124633018 C T rs16911064 TTLL11 Synonymous SNV Q587Q 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 11.99 182415 chr9 124929080 124929080 C T rs73551372 MORN5 Synonymous SNV T27T 0.002 0 0.007 0 2 0 0 2 1 0 0 0 10.94 182416 chr9 125154520 125154520 G A rs3842802 PTGS1 Synonymous SNV A451A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 10.48 182417 chr9 125273578 125273578 G A rs113455966 OR1J2 Synonymous SNV L166L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.954 182418 chr9 125330606 125330606 G A rs114617967 OR1L8 Nonsynonymous SNV R51C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 182419 chr9 125486379 125486379 A G rs139950190 OR1L4 Synonymous SNV L37L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 182420 chr9 125486383 125486383 A G rs144203077 OR1L4 Nonsynonymous SNV T39A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 182421 chr9 126133551 126133551 G A rs34057024 CRB2 Synonymous SNV P710P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.124 182422 chr19 18391543 18391543 C T rs367728832 JUND Nonsynonymous SNV S208N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.12 182423 chr9 12694271 12694271 - GCAAGAA TYRP1 Frameshift insertion R93Qfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 182424 chr9 12694276 12694277 TT - TYRP1 F94Lfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 182425 chr9 117143389 117143389 C T rs764434529 AKNA Synonymous SNV P75P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.43 182426 chr6 64395684 64395684 A G rs146698371 PHF3 Synonymous SNV P599P 0.003 0 0 0 4 0 0 0 0 0 0 0 2.187 182427 chr9 129458628 129458628 C T rs10115304 LMX1B Synonymous SNV S373S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.45 182428 chr9 130098409 130098409 G A rs60971543 GARNL3 Synonymous SNV V292V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 182429 chr9 130206516 130206516 C T rs78112067 ZNF79 Synonymous SNV F45F 0 0 0.003 0 0 0 0 1 0 0 0 0 10 182430 chr21 47838182 47838182 C G rs35848602 PCNT Nonsynonymous SNV P2211R 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign/Likely benign 23.3 182431 chr9 130485476 130485476 A C rs115363266 TTC16 Nonsynonymous SNV K233Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 182432 chr8 27845125 27845125 T C rs141394036 SCARA5 Nonsynonymous SNV N3S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 182433 chr21 47848470 47848470 C T rs61735819 PCNT Synonymous SNV R2434R 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign 9.895 182434 chr9 130511918 130511918 G A rs140508298 SH2D3C Synonymous SNV N79N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 182435 chr9 130536629 130536629 G T rs150394069 SH2D3C Nonsynonymous SNV A52D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.13 182436 chr9 130575610 130575610 C T rs145308593 FPGS Synonymous SNV S471S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.505 182437 chr9 130578280 130578280 A G rs41358947 ENG Synonymous SNV G598G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.019 182438 chr21 47855989 47855989 T C rs35881595 PCNT Nonsynonymous SNV L2778P 0.005 0.008 0 0 6 3 0 0 0 0 0 0 Benign/Likely benign 26.1 182439 chr19 23545237 23545237 A G rs117266186 ZNF91 Nonsynonymous SNV F150L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.336 182440 chr9 130941377 130941377 T C rs45554035 CIZ1 Nonsynonymous SNV E346G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.1 182441 chr9 130943027 130943027 C T rs45588035 CIZ1 Nonsynonymous SNV A195T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 2.045 182442 chr9 131019922 131019922 C T rs73672479 GOLGA2 Synonymous SNV E853E 0 0 0.007 0 0 0 0 2 0 0 0 0 11.08 182443 chr9 131395568 131395568 C T rs2228952 SPTAN1 Synonymous SNV T2438T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.54 182444 chr9 131486294 131486294 C T rs36044649 ZDHHC12 Nonsynonymous SNV V27M 0 0 0.003 0 0 0 0 1 0 0 0 0 30 182445 chr9 131671231 131671231 G A rs116679304 LRRC8A Synonymous SNV L596L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.019 182446 chr9 131710017 131710017 G A rs113241875 NUP188 Nonsynonymous SNV G7R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 22.3 182447 chr19 48048942 48048942 T A ZNF541 Nonsynonymous SNV I282F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 182448 chr9 131860421 131860421 G A rs16930895 CRAT Synonymous SNV Y445Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.801 182449 chr19 33604773 33604773 T C rs149390547 GPATCH1 Nonsynonymous SNV S665P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.384 182450 chr9 13223705 13223705 C T rs199976321 MPDZ Nonsynonymous SNV R133H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 35 182451 chr9 133768998 133768998 T A rs75981952 QRFP Synonymous SNV T76T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.416 182452 chr9 133884927 133884927 C T rs776402027 LAMC3 Nonsynonymous SNV A109V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 182453 chr8 42178259 42178259 G A rs147186110 IKBKB Nonsynonymous SNV E527K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.9 182454 chr9 133961040 133961040 C T rs141497885 LAMC3 Nonsynonymous SNV A1387V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 182455 chr6 84884469 84884469 C T CEP162 Nonsynonymous SNV D592N 0.005 0 0 3 6 0 0.008 0 0 0 0 0 32 182456 chr9 133993201 133993201 G A AIF1L Synonymous SNV E87E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 182457 chr9 13408266 13408266 G A rs11999222 LINC01235 0 0 0.007 0 0 0 0 2 0 0 0 0 5.692 182458 chr19 36159523 36159523 C T rs148681136 UPK1A Synonymous SNV A84A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 182459 chr4 102776241 102776241 A G rs781616873 BANK1 Synonymous SNV K40K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.597 182460 chr19 36206056 36206056 G T ZBTB32 Nonsynonymous SNV E176D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.536 182461 chr9 135117355 135117355 G A rs201951817 NTNG2 Nonsynonymous SNV V484M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 182462 chr9 135285811 135285811 G A rs141479054 CFAP77 Synonymous SNV G51G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 182463 chr19 49448105 49448105 C T rs35307000 DHDH Nonsynonymous SNV P307L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 182464 chr19 49513086 49513086 C T rs201806329 RUVBL2 Synonymous SNV Y138Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 182465 chr9 135517395 135517395 C G rs144782120 DDX31 Nonsynonymous SNV C584S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 182466 chr9 135522283 135522283 T C rs116018389 DDX31 Nonsynonymous SNV K482R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.053 182467 chr9 135977364 135977364 G A rs142584543 RALGDS Synonymous SNV I669I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 182468 chr9 136227285 136227285 G A rs7863933 SURF2 Nonsynonymous SNV R221Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.063 182469 chr9 136255344 136255344 C T rs146272196 STKLD1 Nonsynonymous SNV A144V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 182470 chr9 136262363 136262363 G T rs113183866 STKLD1 Nonsynonymous SNV Q313H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.21 182471 chr19 37210633 37210633 C T rs764612587 ZNF567 Nonsynonymous SNV S305L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 182472 chr9 136402541 136402541 A G rs141636965 ADAMTSL2 Synonymous SNV T35T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 182473 chr9 136508658 136508658 G A rs5324 DBH Nonsynonymous SNV D290N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.67 182474 chr9 137711917 137711917 G A rs3811147 LOC101448202 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 5.294 182475 chr9 137741149 137741149 C G rs766368636 MIR3689C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.798 182476 chr9 137806260 137806260 C T rs56345770 FCN1 Nonsynonymous SNV R93Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.51 182477 chr9 137998635 137998635 C T rs78249091 OLFM1 Synonymous SNV V239V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.2 182478 chr9 138011697 138011697 C T rs61733032 OLFM1 Synonymous SNV I377I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 182479 chr9 138651648 138651648 A G rs61739517 KCNT1 Synonymous SNV P281P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.959 182480 chr9 138839644 138839644 G A rs113800964 UBAC1 Synonymous SNV D147D 0 0 0.007 0 0 0 0 2 0 0 1 0 0.126 182481 chr9 139100784 139100784 C T rs115282676 QSOX2 Synonymous SNV L629L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.864 182482 chr9 139103263 139103263 T C rs116326444 QSOX2 Nonsynonymous SNV M466V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 182483 chr19 51022664 51022664 C G LRRC4B Synonymous SNV R102R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.558 182484 chr9 139333300 139333300 G C rs61734181 INPP5E Nonsynonymous SNV P191R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.6 182485 chr9 139369992 139369992 T C rs768770790 SEC16A Synonymous SNV A692A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 182486 chr9 139396882 139396882 G A rs116316039 NOTCH1 Synonymous SNV A1742A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.87 182487 chr9 13945501 13945501 T A rs73648435 LINC00583 0 0 0.003 0 0 0 0 1 0 0 0 0 5.839 182488 chr9 139804413 139804413 C T rs17250428 TRAF2 Synonymous SNV D190D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 182489 chr9 115805665 115805665 C T ZFP37 Synonymous SNV G426G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.69 182490 chr9 139916417 139916417 C T ABCA2 Nonsynonymous SNV D202N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.62 182491 chr9 139916418 139916418 C T ABCA2 Synonymous SNV L201L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.186 182492 chr5 179251313 179251313 G A rs758128093 SQSTM1 Synonymous SNV T221T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.941 182493 chr9 140056492 140056492 G A rs116006955 GRIN1 Synonymous SNV E528E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.293 182494 chr9 140079429 140079429 C T ANAPC2 Synonymous SNV V328V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 182495 chr9 140094026 140094026 C A rs190167940 TPRN Nonsynonymous SNV A380S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.426 182496 chr7 100551222 100551222 - ACCCCCTCACACAGTACTCCCAGCTCCACTTCTTTAATCACCACCACCAAGACCACCTCACAC MUC3A E601_S602insTPSHSTPSSTSLITTTKTTSH 0.001 0 0 0 1 0 0 0 0 0 0 0 182497 chr9 140127306 140127306 C T rs142873841 SLC34A3 Synonymous SNV G125G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.89 182498 chr8 98943730 98943730 T C MATN2 Nonsynonymous SNV V231A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.4 182499 chr9 140173344 140173344 G C TOR4A Nonsynonymous SNV R68P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 182500 chr9 140196334 140196334 C A rs80030638 NRARP Nonsynonymous SNV R16L 0 0 0.003 0 0 0 0 1 0 0 0 0 27 182501 chr9 140218212 140218212 G A rs56750318 EXD3 Nonsynonymous SNV R717C 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 18.21 182502 chr9 116840384 116840384 T C AMBP Nonsynonymous SNV N36D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.116 182503 chr9 140289761 140289761 G A rs11507687 EXD3 Nonsynonymous SNV R17C 0 0 0.007 0 0 0 0 2 0 0 0 0 8.962 182504 chr9 116994105 116994105 C T rs149837237 COL27A1 Synonymous SNV L842L 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Likely benign 16.43 182505 chr9 140437907 140437907 A C rs113282613 PNPLA7 Synonymous SNV V136V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.057 182506 chr9 140508528 140508528 G C rs144526192 ARRDC1 Synonymous SNV L160L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.289 182507 chr9 14824088 14824088 T C rs7864984 FREM1 Nonsynonymous SNV M702V 0.003 0 0.003 5 3 0 0.013 1 0 0 0 0 Benign 0.225 182508 chr9 15225947 15225947 C T rs75681700 TTC39B Synonymous SNV A113A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.17 182509 chr5 2755399 2755399 C T C5orf38 Nonsynonymous SNV P197L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.069 182510 chr9 16215247 16215247 G T rs73423689 C9orf92 Nonsynonymous SNV T74K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.51 182511 chr9 17309108 17309108 T C rs76542378 CNTLN Nonsynonymous SNV M400T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.62 182512 chr9 138648777 138648777 A G KCNT1 Nonsynonymous SNV K152R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.31 182513 chr9 18928083 18928083 G T rs35562117 SAXO1 Nonsynonymous SNV N399K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.113 182514 chr9 18928422 18928422 G A rs113674764 SAXO1 Synonymous SNV R286R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 182515 chr19 52909865 52909865 C T rs781039268 ZNF528 Synonymous SNV D80D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.674 182516 chr9 18928676 18928676 G A rs113182590 SAXO1 Nonsynonymous SNV P202S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.583 182517 chr9 19050101 19050101 G C rs60279941 RRAGA Synonymous SNV L148L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.121 182518 chr9 19286798 19286798 C T rs12005238 DENND4C Nonsynonymous SNV P113S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.07 182519 chr9 19350763 19350763 A G rs73418021 DENND4C Nonsynonymous SNV I1412V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 182520 chr9 139329222 139329222 G A rs140222295 INPP5E Synonymous SNV F302F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.1 182521 chr9 109691293 109691293 C A rs775818512 ZNF462 Synonymous SNV A1700A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 182522 chr9 20981684 20981684 G A rs149557796 FOCAD Nonsynonymous SNV R1546Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.84 182523 chr9 109736541 109736541 C T rs148772622 ZNF462 Synonymous SNV I1408I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 182524 chr9 21278068 21278068 C T rs116288903 IFNA22P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.346 182525 chr9 21278366 21278366 - CAT rs199529676 IFNA22P 0 0 0.003 0 0 0 0 1 0 0 0 0 182526 chr9 215081 215081 T G rs192260189 DOCK8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.716 182527 chr4 153690678 153690678 G A rs111456531 TIGD4 Synonymous SNV D493D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 182528 chr9 25677843 25677843 G A rs201727379 TUSC1 Synonymous SNV A159A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.36 182529 chr9 26110084 26110084 G A rs7852218 LOC100506422 Nonsynonymous SNV G56E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.445 182530 chr7 100679715 100679715 C T rs143909059 MUC17 Nonsynonymous SNV T1673I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.36 182531 chr22 42486748 42486748 T C NDUFA6 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 182532 chr7 100679720 100679720 G A rs140695064 MUC17 Nonsynonymous SNV A1675T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.6 182533 chr9 27203078 27203078 G A rs4631561 TEK Nonsynonymous SNV A577T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 4.313 182534 chr7 100679739 100679739 C A rs141427486 MUC17 Nonsynonymous SNV P1681Q 0.004 0 0 2 5 0 0.005 0 0 0 0 0 12.03 182535 chr9 32425898 32425898 T C rs34319839 ACO1 Synonymous SNV Y417Y 0.004 0 0.014 0 5 0 0 4 0 0 0 0 0.032 182536 chr9 32427406 32427406 G A rs34630459 ACO1 Nonsynonymous SNV G486R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 182537 chr9 32542088 32542088 G C rs36034138 TOPORS Nonsynonymous SNV P747R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.295 182538 chr9 32630184 32630184 A C rs56007745 TAF1L Synonymous SNV S1798S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.496 182539 chr4 155441 155441 A G ZNF718 Synonymous SNV T322T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.046 182540 chr9 33351709 33351709 C T rs75231196 NFX1 Nonsynonymous SNV P860L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 182541 chr9 140167345 140167345 C G rs569233909 NELFB Nonsynonymous SNV P618A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 182542 chr9 34256131 34256131 C A rs149875499 KIF24 Nonsynonymous SNV E1158D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 182543 chr9 34614173 34614173 C T rs74774311 DCTN3 Nonsynonymous SNV R145H 0 0 0.007 0 0 0 0 2 0 0 0 0 2.425 182544 chr9 34656767 34656767 C A rs11575589 IL11RA Nonsynonymous SNV P65T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.027 182545 chr9 35043479 35043479 C T rs10117097 C9orf131 Nonsynonymous SNV L250F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 182546 chr19 54599286 54599286 G A rs199909610 OSCAR Nonsynonymous SNV P158L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.6 182547 chr9 35076517 35076517 G A rs4986940 FANCG Nonsynonymous SNV P330S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.5 182548 chr22 45608186 45608186 G T rs376513333 KIAA0930 Synonymous SNV A13A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.435 182549 chr7 107605123 107605123 C T rs36063621 LAMB1 Synonymous SNV A524A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 16.78 182550 chr4 166261451 166261451 G A rs142496142 MSMO1 Nonsynonymous SNV V73M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 6.439 182551 chr9 35660998 35661001 CAGT - rs534657208 CCDC107 S223Rfs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 182552 chr4 169299525 169299525 A C rs768860952 DDX60L Nonsynonymous SNV L1489V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 182553 chr9 36147871 36147871 C T rs16932994 GLIPR2 Synonymous SNV N34N 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 13.29 182554 chr9 36823543 36823543 T C rs73446996 MIR4475 0 0 0.003 0 0 0 0 1 0 0 0 0 1.267 182555 chr7 117232128 117232128 T C rs374702882 CFTR Nonsynonymous SNV L636P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.33 182556 chr9 37487901 37487901 T C rs16934141 POLR1E Synonymous SNV F74F 0 0 0.007 0 0 0 0 2 0 0 0 0 9.338 182557 chr7 11871487 11871487 G T rs1050662427 THSD7A Nonsynonymous SNV P29Q 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 0.014 182558 chr9 37501807 37501807 G A rs7867180 POLR1E Nonsynonymous SNV V356M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 182559 chr9 38411404 38411410 CGGTCAT - rs539044999 IGFBPL1 D275Afs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 182560 chr9 38411415 38411415 - T rs201197777 IGFBPL1 Frameshift insertion P274Sfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 182561 chr9 4118393 4118393 G T rs146131512 GLIS3 Nonsynonymous SNV P207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.26 182562 chr9 5077517 5077517 T C rs2230728 JAK2 Synonymous SNV N494N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.506 182563 chr9 5231583 5231583 T G rs7852875 INSL4 Synonymous SNV L20L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.508 182564 chr9 5233664 5233664 A G rs7030463 INSL4 Synonymous SNV S69S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.261 182565 chr9 6606645 6606645 G A rs2228095 GLDC Synonymous SNV L220L 0.004 0 0.01 0 5 0 0 3 0 0 0 0 Benign 10.98 182566 chr9 6888034 6888034 T C rs114371470 KDM4C Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.485 182567 chr9 7013874 7013874 C T rs35006356 KDM4C Synonymous SNV L430L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.161 182568 chr7 128843331 128843331 C T rs780983736 SMO Synonymous SNV L146L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.33 182569 chr9 71840972 71840972 C T rs77321498 TJP2 Nonsynonymous SNV T368M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.9 182570 chr9 71852004 71852004 T C rs35797487 TJP2 Nonsynonymous SNV S715P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.537 182571 chr9 72471585 72471585 G A rs61754915 C9orf135 Nonsynonymous SNV E27K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 182572 chr9 72879304 72879304 G A rs12005618 SMC5 Synonymous SNV V90V 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 7.851 182573 chr19 56228144 56228144 C T rs773941432 NLRP9 Synonymous SNV T760T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 182574 chr9 35398919 35398919 G A rs199656978 UNC13B Nonsynonymous SNV D869N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 182575 chr9 74300174 74300174 C A rs149184816 CEMIP2 Nonsynonymous SNV R1301I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 182576 chr9 77427237 77427237 C T rs142043309 TRPM6 Nonsynonymous SNV R469Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 182577 chr9 130287370 130287370 G T rs777115465 NIBAN2 Nonsynonymous SNV Q117K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.6 182578 chr9 79891061 79891061 A G rs73466090 VPS13A Synonymous SNV E916E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.461 182579 chr9 79933378 79933378 T C rs73467954 VPS13A Synonymous SNV S1689S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.622 182580 chr9 80040581 80040581 G A rs28395814 GNA14 Synonymous SNV P258P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.698 182581 chr9 80880450 80880450 A G rs61730341 CEP78 Synonymous SNV Q597Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.416 182582 chr9 82322120 82322120 G A rs116420758 TLE4 Nonsynonymous SNV R340H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 1.847 182583 chr7 138593744 138593744 G T rs377595061 KIAA1549 Nonsynonymous SNV T1090K 0.003 0 0 0 3 0 0 0 0 0 0 0 33 182584 chr5 74077352 74077352 C T FAM169A Nonsynonymous SNV R649K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 182585 chr9 130825768 130825768 G A NAIF1 Nonsynonymous SNV A308V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.6 182586 chr9 89699294 89699294 G T rs139284018 LOC494127 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 182587 chr9 89771684 89771684 G A rs12342577 C9orf170 0 0 0.003 0 0 0 0 1 0 0 0 0 4.227 182588 chr9 90262235 90262235 G A rs12343465 DAPK1 Nonsynonymous SNV V416I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.69 182589 chr9 90266627 90266627 C T rs36214023 DAPK1 Synonymous SNV D604D 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 14.27 182590 chr9 4663252 4663252 A C rs72695803 PLPP6 Nonsynonymous SNV S293R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.7 182591 chrX 10176601 10176601 G A CLCN4 Nonsynonymous SNV V360I 0.002 0 0 0 2 0 0 0 1 0 0 0 7.414 182592 chr9 90501158 90501158 A G rs35232271 SPATA31E1 Nonsynonymous SNV K586E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 182593 chr4 25789986 25789986 G T rs375084754 SEL1L3 Nonsynonymous SNV Q658K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.4 182594 chr11 63327623 63327623 G A rs114919859 PLAAT2 Nonsynonymous SNV R18C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 182595 chr9 91159392 91159392 G A rs62000369 NXNL2 Nonsynonymous SNV R134Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 182596 chr9 91657009 91657009 G A rs150640184 SHC3 Nonsynonymous SNV P431L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 182597 chr9 92006281 92006281 G A rs116833424 SEMA4D Synonymous SNV P224P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.25 182598 chr9 94518376 94518376 C T rs78781083 ROR2 Synonymous SNV T157T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 18.11 182599 chr7 141875465 141875465 T C MGAM2 Nonsynonymous SNV V1234A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.88 182600 chr9 94519741 94519741 G A rs56227711 ROR2 Synonymous SNV N92N 0.004 0 0.007 0 5 0 0 2 0 0 0 0 Benign 12.14 182601 chr9 95009786 95009786 A G rs2230404 IARS Synonymous SNV Y888Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.698 182602 chr19 58049034 58049034 G A rs61736504 ZNF549 Nonsynonymous SNV R208H 0.001 0 0 5 1 0 0.013 0 0 0 0 0 12.79 182603 chr9 96021733 96021768 TGCCCCCGCAACCCACACGGCCCCCTCAACCTGTGC - rs758502686 WNK2 T973_P984del 0 0 0.007 0 0 0 0 2 0 0 0 0 182604 chr9 96024365 96024365 G C rs28654199 WNK2 Nonsynonymous SNV Q1112H 0 0 0.007 0 0 0 0 2 0 0 0 0 24 182605 chr9 96422489 96422489 G A rs10992837 PHF2 Nonsynonymous SNV V449I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.414 182606 chr9 96860599 96860599 A T rs73518294 PTPDC1 Nonsynonymous SNV H584L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 182607 chr19 58570638 58570638 T A ZNF135 Nonsynonymous SNV V10D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.64 182608 chr9 79322512 79322512 A G PRUNE2 Nonsynonymous SNV W1560R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.64 182609 chr9 97690693 97690693 C T rs138602742 LOC101928119 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 182610 chr9 98220322 98220322 A C rs2066835 PTCH1 Synonymous SNV L995L 0.002 0 0.014 0 2 0 0 4 0 0 1 0 Benign 0.014 182611 chr9 98638256 98638256 C T rs75475951 LINC00476 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.013 182612 chr5 82940369 82940369 G A rs148966419 HAPLN1 Synonymous SNV D196D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.753 182613 chrM 923 923 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 182614 chrX 54824564 54824564 A C rs746031182 ITIH6 Nonsynonymous SNV V27G 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 182615 chr19 58879153 58879153 G A rs1040180471 ZNF837 Nonsynonymous SNV S516F 0.001 0 0 0 1 0 0 0 0 0 0 0 25 182616 chrX 68725178 68725178 - CTG rs756907413 FAM155B C24_W25insC 0.001 0.003 0 0 1 1 0 0 0 0 0 0 182617 chrX 102979184 102979184 G A rs16984014 GLRA4 Nonsynonymous SNV R106C 0.002 0 0.014 0 2 0 0 4 1 0 2 0 33 182618 chr9 88190371 88190371 C T rs144530560 AGTPBP1 Nonsynonymous SNV R1173Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 182619 chr9 88207577 88207577 C T rs11141028 AGTPBP1 Synonymous SNV K874K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.71 182620 chr7 144463042 144463042 T A rs772219407 TPK1 Nonsynonymous SNV N16Y 0.003 0 0 0 4 0 0 0 0 0 0 0 12.48 182621 chr7 144463043 144463043 C T rs773494136 TPK1 Synonymous SNV G15G 0.003 0 0 0 4 0 0 0 0 0 0 0 8.491 182622 chr9 135493791 135493791 C T rs145684625 DDX31 Nonsynonymous SNV R512Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 22.9 182623 chrX 105883826 105883826 T G rs5962707 RADX Nonsynonymous SNV I496M 0.003 0 0.007 0 4 0 0 2 1 0 1 0 0.24 182624 chrX 106841068 106841068 G A rs61184704 FRMPD3 Synonymous SNV E686E 0.004 0.005 0.007 3 5 2 0.008 2 1 0 1 1 1.953 182625 chrX 74284977 74284977 G C ABCB7 Nonsynonymous SNV L547V 0.002 0 0 0 2 0 0 0 1 0 0 0 16.14 182626 chrX 76939283 76939283 T C ATRX Nonsynonymous SNV T451A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.004 182627 chr7 149477126 149477126 C T rs376652882 SSPO 0.003 0 0 0 4 0 0 0 0 0 0 0 5.838 182628 chr9 94486847 94486847 G A rs150089842 ROR2 Synonymous SNV A643A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.419 182629 chr9 94488969 94488969 T G ROR2 Nonsynonymous SNV Q402H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 182630 chr7 149521517 149521517 G T rs200404717 SSPO 0.003 0 0 0 4 0 0 0 0 0 0 0 16.11 182631 chr9 95081569 95081569 T C rs16908298 NOL8 Synonymous SNV L117L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.151 182632 chr9 95267938 95267938 T C rs35161698 ECM2 Synonymous SNV G425G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.366 182633 chrX 124454472 124454472 C T rs148419853 TEX13C Synonymous SNV A168A 0 0 0.014 0 0 0 0 4 0 0 2 0 0.911 182634 chrX 124455512 124455574 TGGTCCCCCTGGGGGACAGCAAGAGTCACAGGATGAAGAAAGATCCAGTGATGCCCCAGAAGA - TEX13C K522_S542del 0 0 0.014 0 0 0 0 4 0 0 2 0 182635 chr9 95738925 95738925 C T rs35070315 FGD3 Synonymous SNV D129D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.131 182636 chrX 100745991 100745991 G A ARMCX4 Synonymous SNV K805K 0.002 0 0 0 2 0 0 0 1 0 0 0 12.61 182637 chr9 97522600 97522600 G A rs16911679 AOPEP Nonsynonymous SNV V179I 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 1.437 182638 chr9 97522683 97522683 C T rs76131437 AOPEP Synonymous SNV Y206Y 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.047 182639 chr9 97869536 97869536 C T rs1800367 FANCC Nonsynonymous SNV V449M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 24.2 182640 chrX 142717383 142717383 A G rs73577386 SLITRK4 Synonymous SNV S514S 0 0 0.02 0 0 0 0 6 0 0 3 0 0.044 182641 chr9 99212624 99212624 C T HABP4 Synonymous SNV G21G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.57 182642 chrX 149396242 149396242 C G rs114424495 MIR2114 0 0 0.007 0 0 0 0 2 0 0 1 0 0.778 182643 chrX 153416346 153416346 A G rs1065421 OPN1LW Nonsynonymous SNV I111V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.684 182644 chr6 108042100 108042100 G A rs139673768 SCML4 Synonymous SNV S18S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 4.924 182645 chrX 153657133 153657133 - GGCGGC rs781797236 ATP6AP1 A41_E42insAA 0.001 0 0.007 0 1 0 0 2 0 0 1 0 182646 chr9 139371039 139371039 T C rs200359757 SEC16A Synonymous SNV P343P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.338 182647 chrX 19364694 19364694 G A rs145749914 PDHA1 Nonsynonymous SNV G42S 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 13.53 182648 chrX 135570295 135570295 T C rs761432263 BRS3 Nonsynonymous SNV S8P 0.002 0 0 0 2 0 0 0 1 0 0 0 3.009 182649 chr7 155604757 155604757 C T rs374343495 SHH Synonymous SNV S20S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.91 182650 chr7 156755714 156755714 G A rs146828480 NOM1 Nonsynonymous SNV G587S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.06 182651 chrX 47107236 47107236 G A rs1319 USP11 Synonymous SNV A890A 0 0 0.007 0 0 0 0 2 0 0 1 0 8.646 182652 chrX 64771261 64771261 C G rs7065841 FRMD8P1 0 0 0.02 0 0 0 0 6 0 0 2 0 1.519 182653 chr4 6925768 6925768 G T rs780635425 TBC1D14 Nonsynonymous SNV D218Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 182654 chrX 66766357 66766362 GGCGGC - AR G472_G473del 0.002 0 0.007 0 2 0 0 2 1 0 1 0 182655 chr9 140508579 140508579 T C ARRDC1 Synonymous SNV Y177Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 182656 chrX 73641595 73641595 C T rs369603991 SLC16A2 Synonymous SNV P41P 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 11.19 182657 chrX 76891446 76891446 A G rs25641 ATRX Synonymous SNV H1515H 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 5.992 182658 chr20 13098266 13098266 G A rs758525525 SPTLC3 Nonsynonymous SNV R349Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 182659 chrX 84363164 84363164 T C rs66539671 SATL1 Nonsynonymous SNV M271V 0.001 0.005 0.007 1 1 2 0.003 2 0 1 1 0 0.001 182660 chr9 35555545 35555545 A G rs200089438 RUSC2 Nonsynonymous SNV K835E 0.003 0 0 0 3 0 0 0 0 0 0 0 14.73 182661 chrX 84363457 84363457 G A rs58952244 SATL1 Nonsynonymous SNV T173I 0 0 0.007 0 0 0 0 2 0 0 1 0 0.026 182662 chrX 88008713 88008713 T C rs78677921 CPXCR1 Synonymous SNV L100L 0.003 0 0.014 0 3 0 0 4 1 0 2 0 0.011 182663 chr9 35870307 35870307 C G OR13J1 Nonsynonymous SNV C31S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.68 182664 chr10 100174836 100174836 C T rs369500903 PYROXD2 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 182665 chr6 128135008 128135008 C G THEMIS Nonsynonymous SNV D260H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.6 182666 chr10 101421279 101421279 G A rs35229854 ENTPD7 Nonsynonymous SNV V29M 0.002 0.013 0.014 1 2 5 0.003 4 0 0 0 0 18.67 182667 chr10 101637089 101637089 T C rs139264891 DNMBP Nonsynonymous SNV Y1150C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 28 182668 chr11 73803618 73803618 A G rs374038208 C2CD3 Synonymous SNV N1120N 0.004 0 0 0 5 0 0 0 0 0 0 0 1.046 182669 chr9 214622 214622 G C DOCK8-AS1 0.002 0.008 0 0 2 3 0 0 0 0 0 0 11.63 182670 chr10 101915919 101915919 C T rs781383034 ERLIN1 Nonsynonymous SNV R83H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 182671 chr9 21481231 21481231 G C rs143041680 IFNE Nonsynonymous SNV L155V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.4 182672 chr10 102746638 102746638 G A rs759060196 MRPL43 Synonymous SNV D111D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.241 182673 chr6 137330503 137330503 G T rs146644651 IL20RA Nonsynonymous SNV S66Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.7 182674 chr11 75319241 75319241 G A rs199708859 MAP6 Synonymous SNV A344A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.83 182675 chr20 30419897 30419897 C G MYLK2 Synonymous SNV S556S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 182676 chr10 104679164 104679164 C G rs544476206 CNNM2 Synonymous SNV R309R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.261 182677 chr9 34568935 34568935 G A rs146101081 CNTFR Synonymous SNV A15A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 182678 chr10 112657913 112657913 C G rs751537495 MIR4680 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 182679 chr20 32267695 32267695 C T rs200021458 E2F1 Synonymous SNV S146S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.05 182680 chr6 151055000 151055000 G A rs145506185 PLEKHG1 Synonymous SNV P120P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.27 182681 chr10 119001231 119001231 C T rs368087382 SLC18A2 Synonymous SNV V9V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 18.93 182682 chr20 40980902 40980902 C T rs201153898 PTPRT Synonymous SNV S528S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.32 182683 chr10 118351396 118351396 C T rs782135416 PNLIPRP1 Nonsynonymous SNV R55C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 182684 chr10 118891963 118891963 C T rs550587757 VAX1 Nonsynonymous SNV R152Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.21 182685 chr20 256617 256617 C T rs146492837 C20orf96 Synonymous SNV R340R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.96 182686 chr7 44612617 44612617 G A rs150218184 DDX56 Synonymous SNV G85G 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 12.42 182687 chr10 125521520 125521520 G A rs150707293 CPXM2 Nonsynonymous SNV R549C 0 0 0.007 0 0 0 0 2 0 0 0 0 34 182688 chr7 44796087 44796087 G A rs772072381 ZMIZ2 Synonymous SNV S38S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 13.23 182689 chr11 93837897 93837897 G C rs763640906 HEPHL1 Nonsynonymous SNV E962D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.6 182690 chr10 126715136 126715136 C A rs7067816 CTBP2 Nonsynonymous SNV R398L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 22.8 182691 chr11 94340752 94340752 G A rs377761223 PIWIL4 Nonsynonymous SNV A596T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.8 182692 chr5 112175843 112175843 A G APC Nonsynonymous SNV K1500E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.4 182693 chr10 128904495 128904495 G A rs201249300 DOCK1 Nonsynonymous SNV G816R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.3 182694 chr7 4801932 4801932 C T rs71529310 FOXK1 Nonsynonymous SNV A680V 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 10.16 182695 chr6 166833420 166833420 C T rs138730194 RPS6KA2 Synonymous SNV A492A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.07 182696 chr10 129902253 129902253 T C MKI67 Synonymous SNV S2257S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.31 182697 chr1 6309970 6309970 C G GPR153 Nonsynonymous SNV D420H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 182698 chr1 6309971 6309971 C G GPR153 Nonsynonymous SNV E419D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 182699 chr10 13228178 13228178 C T rs61755071 MCM10 Synonymous SNV I371I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.32 182700 chr10 13655857 13655857 A G rs142096835 PRPF18 Synonymous SNV P232P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.02 182701 chr10 13701402 13701402 G C rs140711494 FRMD4A Nonsynonymous SNV P354A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 182702 chr7 6193736 6193736 G T rs112159886 USP42 Nonsynonymous SNV A851S 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 0.047 182703 chrX 109561113 109561113 C T AMMECR1 Nonsynonymous SNV G63S 0.002 0 0 0 2 0 0 0 1 0 0 0 23.3 182704 chr1 11188142 11188142 C T rs192740864 MTOR Synonymous SNV T1984T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 17.48 182705 chr10 24762892 24762892 G A rs61735604 KIAA1217 Nonsynonymous SNV A246T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.011 182706 chr10 24813297 24813297 C T rs113571639 KIAA1217 Synonymous SNV A517A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.46 182707 chr7 7413043 7413043 G C COL28A1 Nonsynonymous SNV L832V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.8 182708 chr1 12089905 12089905 C T rs1139720 MIIP Stop gain R267X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 182709 chr1 12090123 12090123 G A rs373377818 MIIP Nonsynonymous SNV R295Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.264 182710 chr10 27454005 27454005 T G rs772453149 MASTL Nonsynonymous SNV M189R 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 182711 chrX 153662666 153662666 G A ATP6AP1 Nonsynonymous SNV R266Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28 182712 chr10 27537267 27537267 A - rs150117413 LRRC37A6P 0 0 0.003 0 0 0 0 1 0 0 0 0 182713 chr10 19493301 19493301 A G rs549740192 MALRD1 Synonymous SNV P723P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 8.168 182714 chr10 29756924 29756924 C G rs1017337562 SVIL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.614 182715 chr12 117287176 117287176 C T rs978434112 RNFT2 Nonsynonymous SNV L420F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 182716 chr10 33543045 33543045 T C NRP1 Nonsynonymous SNV S298G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 182717 chr10 35897125 35897125 G A rs75803523 GJD4 Synonymous SNV P228P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.208 182718 chr21 26976177 26976177 C T rs114037138 MRPL39 Synonymous SNV K117K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 182719 chr10 45473117 45473117 T C rs945476157 DEPP1 Nonsynonymous SNV D121G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.419 182720 chr7 91667745 91667745 A G AKAP9 Nonsynonymous SNV M1451V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.4 182721 chr7 99022522 99022522 C A ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV V545F 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 182722 chr7 99054263 99054263 G A rs45556132 CPSF4 Nonsynonymous SNV V261I 0.003 0 0 0 3 0 0 0 0 0 0 0 5.494 182723 chr7 99091923 99091923 C T rs79748850 ZNF394 Synonymous SNV E305E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.96 182724 chr7 99250236 99250236 G T rs28365083 CYP3A5 Nonsynonymous SNV T398N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.084 182725 chrX 47307053 47307053 G A rs201527995 ZNF41 Nonsynonymous SNV L620F 0.003 0 0.003 0 4 0 0 1 2 0 0 0 Likely benign 24.1 182726 chr10 50678412 50678412 T C rs374791168 ERCC6 Synonymous SNV K1198K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.037 182727 chr21 40794933 40794933 G A rs145628827 LCA5L Nonsynonymous SNV T269I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 182728 chr10 61718318 61718318 C T rs893476276 LINC01553 0 0 0.003 0 0 0 0 1 0 0 0 0 1.042 182729 chr12 13061365 13061365 G - rs527915306 GPRC5A R61Sfs*59 0.001 0 0.003 0 1 0 0 1 0 0 0 0 182730 chrY 14951805 14951805 C T rs777614994 USP9Y Nonsynonymous SNV R1785C 0.002 0 0 2 2 0 0.005 0 1 0 0 1 27.1 182731 chr1 1026310 1026310 G C rs183697514 C1orf159 Nonsynonymous SNV S42R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 182732 chrY 21906413 21906413 G A rs199813705 KDM5D Nonsynonymous SNV P3L 0.002 0 0 2 2 0 0.005 0 1 0 0 1 19.77 182733 chr1 1133099 1133099 G C rs200200135 TTLL10 Nonsynonymous SNV A632P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.168 182734 chr10 6527125 6527125 G A rs139296268 PRKCQ Nonsynonymous SNV P211L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 182735 chr10 6528012 6528012 A T rs34193902 PRKCQ Synonymous SNV I170I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.873 182736 chr10 69647276 69647276 C G SIRT1 Nonsynonymous SNV P178A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 182737 chr1 1390852 1390852 C T rs200476672 ATAD3C Nonsynonymous SNV R131W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 182738 chr1 26881173 26881173 G A rs141533618 RPS6KA1 Nonsynonymous SNV V243I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.6 182739 chr12 15035919 15035919 T C rs1801716 MGP Nonsynonymous SNV K53E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 22.6 182740 chr12 15070169 15070169 T A rs35203261 ERP27 Synonymous SNV P72P 0.004 0 0 0 5 0 0 0 0 0 0 0 10.13 182741 chr21 45750512 45750512 C T CFAP410 Nonsynonymous SNV R278H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.34 182742 chr12 15102746 15102746 C T rs888474397 ARHGDIB Nonsynonymous SNV M85I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 182743 chr1 32146528 32146528 T C rs200335064 COL16A1 Nonsynonymous SNV E863G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.11 182744 chr10 60573720 60573720 G T rs143246979 BICC1 Nonsynonymous SNV S836I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 182745 chr10 76287659 76287659 T C LOC102723439 0 0 0.003 0 0 0 0 1 0 0 0 0 1.605 182746 chr12 25002847 25002847 G A rs200941618 BCAT1 Nonsynonymous SNV L122F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 182747 chr1 38039997 38039997 G A rs148607956 GNL2 Nonsynonymous SNV R272W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 182748 chr1 38168962 38168962 G A rs761391083 CDCA8 Nonsynonymous SNV R176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 182749 chr1 38218737 38218737 C A EPHA10 Stop gain E390X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 182750 chr5 176963454 176963454 C T rs754533289 FAM193B Synonymous SNV S327S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.61 182751 chr8 134232950 134232950 G A rs147638897 CCN4 Nonsynonymous SNV R159Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.35 182752 chr5 177548285 177548285 C T N4BP3 Nonsynonymous SNV P347S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.022 182753 chr10 87373224 87373224 C T rs768958618 GRID1 Synonymous SNV L847L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 182754 chr1 11710617 11710617 G A rs776517350 FBXO2 Synonymous SNV P99P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 182755 chr22 19459272 19459272 T C rs760744737 UFD1 Nonsynonymous SNV M77V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 182756 chr6 75848169 75848169 C T rs79830915 COL12A1 Nonsynonymous SNV R578H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 27.1 182757 chr8 142176326 142176326 G A rs750450951 DENND3 Nonsynonymous SNV V531I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 182758 chr8 142228380 142228380 G A rs59647554 SLC45A4 Synonymous SNV R402R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.708 182759 chr10 94836758 94836758 T C rs73319400 CYP26A1 Synonymous SNV S397S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.556 182760 chr1 43917098 43917098 C G rs79439514 HYI, HYI Nonsynonymous SNV C248S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 29.3 182761 chr10 122665414 122665414 C T rs34937000 WDR11 Synonymous SNV A1106A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 15.97 182762 chr10 97684580 97684580 C T rs556456249 CC2D2B Synonymous SNV S73S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 182763 chr1 44605098 44605098 T C rs144562521 KLF18 Nonsynonymous SNV T736A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.559 182764 chr1 44605183 44605183 C G rs576918923 KLF18 Nonsynonymous SNV Q707H 0.004 0.005 0 0 5 2 0 0 0 0 0 0 2.919 182765 chr21 22710848 22710848 C T rs748588176 NCAM2 Synonymous SNV G204G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.3 182766 chr1 44606419 44606419 T C rs146673638 KLF18 Synonymous SNV T295T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.192 182767 chr1 44606576 44606576 C T rs61734380 KLF18 Nonsynonymous SNV G243D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 1.501 182768 chr6 89856195 89856195 T C PM20D2 Nonsynonymous SNV L111P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 182769 chr22 23237592 23237592 G A rs201305704 IGLL5 Synonymous SNV P46P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.352 182770 chr11 1006604 1006604 C T rs201536162 AP2A2 Synonymous SNV D762D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 9.053 182771 chr6 90009505 90009505 C T rs140364265 GABRR2 Nonsynonymous SNV D65N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 182772 chr1 46497140 46497140 C T rs778296919 MAST2 Nonsynonymous SNV R1024C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 182773 chr12 48361003 48361003 G A rs34111422 TMEM106C Synonymous SNV T186T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 14.18 182774 chr12 48368464 48368464 G A rs17122498 COL2A1 Synonymous SNV G1287G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 11.65 182775 chr11 1016836 1016836 A G MUC6 Nonsynonymous SNV F1989L 0 0 0.014 0 0 0 0 4 0 0 0 0 9.211 182776 chr11 1016837 1016837 G A MUC6 Synonymous SNV S1988S 0 0 0.014 0 0 0 0 4 0 0 0 0 6.478 182777 chr10 127442397 127442397 A G rs150588104 EDRF1 Synonymous SNV S1142S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 4.574 182778 chr6 99831696 99831696 A T COQ3 Stop gain Y37X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 182779 chr1 52499333 52499333 A G rs765776605 KTI12 Nonsynonymous SNV V34A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 182780 chr22 26887496 26887496 C T rs202243871 SRRD Nonsynonymous SNV T293I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 182781 chr22 30683474 30683474 G A rs189381704 CASTOR1 Nonsynonymous SNV A87V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 23.4 182782 chr8 145725579 145725579 C G PPP1R16A Nonsynonymous SNV R193G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 182783 chr1 55078341 55078341 T C rs41297141 FAM151A Synonymous SNV L206L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.584 182784 chr10 97446901 97446901 T C rs769848895 TCTN3 Nonsynonymous SNV K172R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.819 182785 chr1 62962051 62962051 C T rs138393645 DOCK7 Nonsynonymous SNV E1588K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 182786 chr11 108121446 108121446 A G rs4987943 ATM Synonymous SNV Q418Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.816 182787 chr11 1083748 1083748 G A rs375083539 MUC2 Synonymous SNV T760T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.908 182788 chr22 37420411 37420411 G A rs778559600 MPST Nonsynonymous SNV R52H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 182789 chr21 45978451 45978451 C G KRTAP10-3 Nonsynonymous SNV V50L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 182790 chr1 67423835 67423837 GAA - rs754673061 MIER1 E94del 0.001 0 0 0 1 0 0 0 0 0 0 0 182791 chr11 111583006 111583006 C T rs55848984 SIK2 Synonymous SNV P391P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 11.16 182792 chr11 111796415 111796415 C G rs202170534 C11orf52 Nonsynonymous SNV Q37E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 182793 chr1 26509030 26509030 G A CNKSR1 Synonymous SNV L193L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.928 182794 chr21 46930146 46930146 C G rs772118023 COL18A1 Nonsynonymous SNV R1399G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 182795 chr1 26688661 26688661 C T rs372846363 ZNF683 Synonymous SNV P383P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.913 182796 chr12 54448859 54448859 T G HOXC4 Nonsynonymous SNV V222G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.93 182797 chr11 117095456 117095456 G A rs61729980 PCSK7 Synonymous SNV D292D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 182798 chr10 3178022 3178022 G A rs61731936 PFKP Synonymous SNV T472T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 182799 chr22 41751488 41751488 C T rs35055668 ZC3H7B Nonsynonymous SNV H684Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.886 182800 chr22 41970770 41970770 C T rs61743476 CSDC2 Synonymous SNV D111D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.73 182801 chr22 42423069 42423069 G A rs74639928 WBP2NL Nonsynonymous SNV G272R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.76 182802 chr12 56726712 56726712 T C PAN2 Nonsynonymous SNV H56R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.08 182803 chr11 120769321 120769321 C T rs996641766 GRIK4 Synonymous SNV N415N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 182804 chr22 20800811 20800811 G A rs373887038 KLHL22 Synonymous SNV H486H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.12 182805 chr1 39895710 39895710 A G rs930176118 MACF1 Synonymous SNV E3638E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.475 182806 chr11 12316345 12316356 CTCCTCCTCCTC - rs765713697 MICALCL P467_P470del 0 0 0.003 0 0 0 0 1 0 0 0 0 182807 chr12 58190088 58190088 T C TSFM Nonsynonymous SNV Y234H 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 182808 chr10 48388019 48388019 G A RBP3 Synonymous SNV A953A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 182809 chr8 41583426 41583426 G A ANK1 Synonymous SNV G155G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 182810 chr8 4277548 4277548 T G CSMD1 Synonymous SNV T114T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.46 182811 chr11 123810680 123810680 G A rs200630240 OR4D5 Synonymous SNV A119A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.508 182812 chr8 53085059 53085059 C G rs768616435 ST18 Nonsynonymous SNV C121S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.51 182813 chr7 127991189 127991189 G A rs557846516 PRRT4 Synonymous SNV C807C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.973 182814 chr11 124135142 124135142 C T rs376882225 OR8G5 Synonymous SNV L140L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.77 182815 chr7 128317668 128317668 G A rs531576408 FAM71F2 Nonsynonymous SNV R139H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.4 182816 chr11 124824694 124824694 C G rs373214536 CCDC15 Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 182817 chr22 29455007 29455007 G A rs755409332 C22orf31 Nonsynonymous SNV S199L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 182818 chr11 1263405 1263405 A G rs1011457148 MUC5B Synonymous SNV T1765T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 182819 chr7 138740026 138740026 C G rs199696836 ZC3HAV1 Nonsynonymous SNV K826N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.028 182820 chrX 9907388 9907388 C T rs374770438 SHROOM2 Synonymous SNV H266H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.621 182821 chr8 82607027 82607027 A G rs79849182 SLC10A5 Nonsynonymous SNV F61L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.003 182822 chr11 1501697 1501697 G A rs368367523 MOB2 Synonymous SNV H97H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 182823 chrX 24759542 24759542 A G rs2230928 POLA1 Nonsynonymous SNV K756R 0.007 0.01 0 4 8 4 0.01 0 3 1 0 2 9.334 182824 chr6 11213853 11213853 C T rs138686882 NEDD9 Synonymous SNV L40L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.87 182825 chr22 31662028 31662028 T C rs778166617 LIMK2 Synonymous SNV C296C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.76 182826 chr11 1857151 1857151 G A rs370047832 SYT8 Synonymous SNV P113P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.871 182827 chr1 120166009 120166009 G A rs753918253 ZNF697 Synonymous SNV C319C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.115 182828 chr1 145492303 145492303 T C LIX1L Synonymous SNV N175N 0.003 0 0 0 4 0 0 0 0 0 0 0 6.651 182829 chrX 53578308 53578308 C T rs145503240 HUWE1 Synonymous SNV A3005A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.53 182830 chr7 148700906 148700906 T G PDIA4 Synonymous SNV R641R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.175 182831 chr1 145688197 145688197 C T rs145517263 RNF115 Synonymous SNV L298L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.65 182832 chrX 56591446 56591446 C T rs867303724 UBQLN2 Synonymous SNV P380P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.468 182833 chr11 2018374 2018374 G A rs11564733 H19 0 0 0.034 0 0 0 0 10 0 0 1 0 3.99 182834 chrX 57458406 57458406 A G FAAH2 Nonsynonymous SNV K281R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.31 182835 chr7 150325739 150325739 G A rs766191072 GIMAP6 Nonsynonymous SNV R53C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 2.073 182836 chrX 71787825 71787825 C A rs199969298 HDAC8 Synonymous SNV G117G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.37 182837 chr1 65143981 65143981 A G rs762311629 CACHD1 Nonsynonymous SNV M782V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.623 182838 chr11 26734200 26734200 G A rs747575010 SLC5A12 Synonymous SNV Y131Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.2 182839 chr11 124095574 124095574 C A OR8G2P Synonymous SNV I59I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.511 182840 chr11 32632771 32632771 G C rs775855005 CCDC73 Nonsynonymous SNV N979K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.7 182841 chr10 93902855 93902855 G A rs767383587 CPEB3 Nonsynonymous SNV R448C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 182842 chr11 33689561 33689561 C T rs574100423 KIAA1549L Nonsynonymous SNV S2101L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 182843 chr10 94834595 94834595 G A rs143605675 CYP26A1 Synonymous SNV E158E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.772 182844 chr10 95139707 95139707 C T MYOF Synonymous SNV K625K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.47 182845 chr11 36484117 36484117 G T rs780657900 PRR5L Nonsynonymous SNV G185V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 182846 chr11 372699 372699 G A rs760821783 B4GALNT4 Nonsynonymous SNV G98E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.861 182847 chr11 45923579 45923579 C A rs554259465 MAPK8IP1 Synonymous SNV R191R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 182848 chrX 130678928 130678928 A G OR13H1 Nonsynonymous SNV K294R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.568 182849 chr11 46407402 46407402 C T rs201595336 CHRM4 Nonsynonymous SNV E236K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.13 182850 chr11 46419192 46419192 C A rs761071769 AMBRA1 Nonsynonymous SNV Q1175H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 182851 chr11 46896446 46896446 A T rs763442262 LRP4 Nonsynonymous SNV H1378Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 182852 chr9 124062190 124062190 G A rs1053510152 GSN Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 182853 chr11 47196758 47196758 G A rs137875805 ARFGAP2 Nonsynonymous SNV A124V 0 0 0.003 0 0 0 0 1 0 0 0 0 21 182854 chr13 114113636 114113636 C T rs756645791 DCUN1D2 Nonsynonymous SNV D231N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 182855 chrX 140994096 140994096 T A rs78546154 MAGEC1 Synonymous SNV P302P 0.005 0.003 0.01 2 6 1 0.005 3 0 0 1 0 0.043 182856 chr9 127557334 127557334 C A OLFML2A Nonsynonymous SNV T129N 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 25.6 182857 chrX 152835200 152835200 C T rs782426970 ATP2B3 Nonsynonymous SNV T1161I 0.005 0.003 0 0 6 1 0 0 2 0 0 0 16.07 182858 chr7 38768158 38768158 G A rs750479610 VPS41 Synonymous SNV S771S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 182859 chrX 14910861 14910861 T C rs372456717 MOSPD2 Synonymous SNV Y32Y 0.002 0 0 0 2 0 0 0 1 0 0 0 0.72 182860 chrX 154158180 154158180 G C rs201393905 F8 Nonsynonymous SNV N1295K 0.005 0.003 0 0 6 1 0 0 2 0 0 0 Likely benign 20 182861 chrX 15841258 15841258 C T rs763087055 ZRSR2 Nonsynonymous SNV R448C 0.002 0 0 0 2 0 0 0 1 0 0 0 18.32 182862 chr7 43832317 43832317 G C rs370267506 BLVRA Nonsynonymous SNV Q86H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 182863 chr10 101690423 101690423 - TCCGTACAC rs749276565 DNMBP R32_K33insSVR 0.001 0 0 0 1 0 0 0 0 0 0 0 182864 chrX 48853750 48853750 C T rs145705450 GRIPAP1 Nonsynonymous SNV S73N 0.005 0 0.007 0 6 0 0 2 2 0 1 0 Benign 16.54 182865 chrX 50377977 50377977 C G SHROOM4 Nonsynonymous SNV A366P 0.003 0 0 0 3 0 0 0 1 0 0 0 7.012 182866 chr1 112033351 112033351 T C TMIGD3 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 182867 chr10 104176567 104176567 G A rs780777011 PSD Nonsynonymous SNV R77C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.71 182868 chrX 70889445 70889445 G A LOC101059915 Nonsynonymous SNV V425M 0.003 0.013 0 1 3 5 0.003 0 1 2 0 0 0.166 182869 chr1 114515903 114515903 C T rs147414526 HIPK1 Synonymous SNV S740S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 182870 chr1 169930277 169930277 T C KIFAP3 Nonsynonymous SNV S651G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 182871 chr11 103339371 103339371 A T rs886047580 DYNC2H1 Nonsynonymous SNV N4235Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.41 182872 chrX 85302508 85302508 T C rs138374611 CHM Nonsynonymous SNV D10G 0.002 0 0 1 2 0 0.003 0 1 0 0 0 27.4 182873 chr13 47356830 47356830 T C rs769734830 ESD Nonsynonymous SNV Y118C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.4 182874 chrX 100531471 100531473 TTG - rs775802118 TAF7L N246del 0.003 0.005 0 0 3 2 0 0 1 1 0 0 182875 chr7 54617920 54617920 G T rs535409039 VSTM2A Nonsynonymous SNV G231C 0 0.005 0 0 0 2 0 0 0 0 0 0 6.138 182876 chr1 144994654 144994654 G A rs147804991 PDE4DIP Synonymous SNV I26I 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 17.48 182877 chr9 137808260 137808260 G A rs201970479 FCN1 Stop gain R51X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 36 182878 chr1 178780488 178780488 A G RALGPS2 Synonymous SNV Q112Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.061 182879 chr1 179460806 179460806 C G AXDND1 Nonsynonymous SNV A742G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 182880 chr9 139252505 139252505 G A rs537330227 GPSM1 Nonsynonymous SNV V112I 0.003 0 0 0 3 0 0 0 0 0 0 0 10.71 182881 chr11 406515 406515 T C SIGIRR Synonymous SNV K301K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 182882 chrX 140993906 140993906 C G rs146816736 MAGEC1 Nonsynonymous SNV P239R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.869 182883 chr7 6693372 6693372 C T rs997840877 ZNF316 Synonymous SNV G715G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.97 182884 chr1 183192361 183192361 T C LAMC2 Synonymous SNV H285H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 182885 chr1 152081362 152081362 C G rs182615256 TCHH Nonsynonymous SNV R1444P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.6 182886 chr6 35467888 35467888 C T rs370691307 TULP1 Synonymous SNV L402L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.49 182887 chr1 192989488 192989488 T C rs192867351 UCHL5 Synonymous SNV T322T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 182888 chrX 153135854 153135854 G A rs141383999 L1CAM Synonymous SNV I260I 0.003 0.003 0 0 3 1 0 0 1 0 0 0 12.16 182889 chr10 127522469 127522469 A C rs200685759 BCCIP Nonsynonymous SNV K243T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.57 182890 chr1 200816820 200816820 A G CAMSAP2 Synonymous SNV T399T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.838 182891 chr1 906769 906769 C T rs78850589 PLEKHN1 Synonymous SNV D270D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.43 182892 chr6 39271830 39271830 C T rs141578924 KCNK17 Synonymous SNV P197P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 8.205 182893 chr6 39824226 39824226 A G DAAM2 Nonsynonymous SNV I50V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.291 182894 chr1 1290333 1290333 G A rs555489805 MXRA8 Synonymous SNV Y125Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.829 182895 chr7 87483585 87483585 T A rs150511221 SLC25A40 Synonymous SNV L66L 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 10.37 182896 chr1 1685628 1685628 C T rs770478837 NADK Synonymous SNV P289P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.34 182897 chr10 134981793 134981793 G A rs976833980 KNDC1 Nonsynonymous SNV D113N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.4 182898 chr7 92765157 92765157 G A SAMD9L Nonsynonymous SNV T43I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 182899 chr11 57085307 57085307 C T rs780401529 TNKS1BP1 Synonymous SNV S261S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 182900 chr9 32542890 32542890 T C rs899605953 TOPORS Nonsynonymous SNV I480V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.055 182901 chr11 57886843 57886843 A G rs778844925 OR9I1 Nonsynonymous SNV I25T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.183 182902 chr9 33276548 33276548 A G CHMP5 Nonsynonymous SNV D161G 0.003 0 0 0 4 0 0 0 0 0 0 0 23.3 182903 chr10 15138403 15138403 A G RPP38-DT 0.003 0 0 0 4 0 0 0 0 0 0 0 4.415 182904 chr11 58206720 58206720 G A rs747988675 OR5B12 Nonsynonymous SNV T302I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.374 182905 chr1 210856913 210856913 C T rs371256167 KCNH1 Nonsynonymous SNV V867M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 182906 chr1 10532399 10532399 - AGGC DFFA Frameshift insertion E40Pfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 182907 chr11 133792600 133792600 G T IGSF9B Synonymous SNV T715T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 182908 chr10 29169356 29169356 A C rs201742615 C10orf126 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 182909 chr1 11838809 11838809 G T C1orf167 Nonsynonymous SNV C811F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 182910 chr8 113364697 113364697 T C rs139786530 CSMD3 Nonsynonymous SNV Y1868C 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 26.8 182911 chr11 61643378 61643378 G A rs977435951 FADS3 Nonsynonymous SNV H411Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 182912 chr11 554029 554029 C G LRRC56 Nonsynonymous SNV S461C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 182913 chr8 124658135 124658135 C T rs146479735 KLHL38 Synonymous SNV R530R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.992 182914 chr1 15888644 15888644 G A rs143037370 DNAJC16 Nonsynonymous SNV V76M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 182915 chr8 124821235 124821235 A C FAM91A1 Nonsynonymous SNV H505P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 182916 chr11 63357720 63357720 T C rs773332764 PLAAT3 Nonsynonymous SNV H80R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.929 182917 chr11 64480863 64480863 C T rs752536639 NRXN2 Synonymous SNV L103L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 182918 chr1 17685784 17685784 G A rs201257365 PADI4 Nonsynonymous SNV D547N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 182919 chr11 6477930 6477930 C T rs141209929 TRIM3 Synonymous SNV S223S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.05 182920 chr1 227843171 227843171 G A rs373161360 ZNF678 Nonsynonymous SNV C431Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.3 182921 chr11 65064625 65064625 G A rs777086387 POLA2 Nonsynonymous SNV R561H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 182922 chr11 65269460 65269460 T C rs145769549 MALAT1, TALAM1 0 0 0.01 0 0 0 0 3 0 0 0 0 4.497 182923 chr11 65337417 65337417 T C rs140105788 SSSCA1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.626 182924 chr9 97717525 97717525 T A rs746809060 AOPEP Nonsynonymous SNV N477K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.1 182925 chr11 65385745 65385745 C T rs775804362 PCNX3 Synonymous SNV G304G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.76 182926 chr9 98215825 98215825 A G rs759078294 PTCH1 Synonymous SNV D1076D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 182927 chr1 230338953 230338953 C T rs769084195 GALNT2 Synonymous SNV D59D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 182928 chr11 32875043 32875043 - A PRRG4 Frameshift insertion S220Ifs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 182929 chr10 63850887 63850887 G C rs774734058 ARID5B Nonsynonymous SNV L312F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 182930 chr11 66571639 66571639 T C rs768855538 C11orf80 Nonsynonymous SNV L174P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.891 182931 chr1 236157113 236157113 T C rs146903405 NID1 Nonsynonymous SNV T863A 0.003 0 0 0 4 0 0 0 0 0 0 0 0.012 182932 chr10 70161470 70161470 T C RUFY2 Nonsynonymous SNV N10S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 182933 chr10 70176588 70176588 G A rs759174372 DNA2 Stop gain R998X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 182934 chr1 26366320 26366320 A G rs35925054 SLC30A2 Synonymous SNV H258H 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 0.345 182935 chr8 145608326 145608326 C T rs781787530 ADCK5 Nonsynonymous SNV A54V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.246 182936 chrX 152083283 152083283 C T rs781893395 ZNF185 Nonsynonymous SNV R22C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 182937 chr10 75561403 75561403 A T rs994786144 ZSWIM8 Nonsynonymous SNV S1850C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.1 182938 chr14 78709688 78709688 C T rs531244597 NRXN3 Synonymous SNV R84R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.45 182939 chr1 247836252 247836252 A G rs376175834 OR13G1 Nonsynonymous SNV V31A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.43 182940 chr11 73996939 73996939 A C P4HA3 Nonsynonymous SNV I342S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 182941 chrX 153284443 153284443 C A IRAK1 Nonsynonymous SNV A175S 0.003 0 0 0 4 0 0 0 1 0 0 0 9.295 182942 chrX 153284446 153284446 G T IRAK1 Nonsynonymous SNV P174T 0.003 0 0 0 4 0 0 0 1 0 0 0 0.047 182943 chr14 91369166 91369166 C G rs770884768 RPS6KA5 Nonsynonymous SNV E150Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 182944 chr1 33207714 33207714 C G rs532626333 KIAA1522 Synonymous SNV A53A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 182945 chr14 91739666 91739666 C T rs201814255 CCDC88C Nonsynonymous SNV R1797H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 31 182946 chr1 204506607 204506607 A G rs375432530 MDM4 Synonymous SNV P33P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.539 182947 chr10 88441535 88441535 G A rs139922045 LDB3 Nonsynonymous SNV A222T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 182948 chr1 248789701 248789701 A G rs369739417 OR2T11 Synonymous SNV T243T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 182949 chr1 249211581 249211581 C T rs41305584 PGBD2 Synonymous SNV Y15Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.311 182950 chr11 799952 799952 C T rs773226675 PIDD1 Synonymous SNV L779L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 182951 chr10 94409596 94409596 G A rs138462002 KIF11 Synonymous SNV T925T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.413 182952 chr11 61257394 61257394 G A rs140396582 PPP1R32 Nonsynonymous SNV R375Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.91 182953 chr2 3826406 3826406 A C rs11691299 DCDC2C Synonymous SNV R185R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.015 182954 chr2 3826476 3826476 T C rs11692711 DCDC2C 0.003 0 0 0 4 0 0 0 0 0 0 0 9.717 182955 chr10 95791445 95791445 A T rs149064632 PLCE1 Synonymous SNV G214G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.095 182956 chr11 88068189 88068189 A G rs778989416 CTSC Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.317 182957 chr1 211847024 211847024 T C NEK2 Nonsynonymous SNV Q119R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 182958 chr8 2944742 2944742 C G CSMD1 Nonsynonymous SNV V2451L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.021 182959 chr15 101561316 101561316 C T rs56215707 LRRK1 Synonymous SNV N556N 0.003 0 0 0 4 0 0 0 0 0 0 0 11.03 182960 chr10 99079606 99079606 G A FRAT1 Synonymous SNV E132E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.129 182961 chr15 101606294 101606294 C T rs17161161 LRRK1 Synonymous SNV P1884P 0.003 0 0 0 4 0 0 0 0 0 0 0 5.813 182962 chr11 92714939 92714939 G A rs996425690 MTNR1B Nonsynonymous SNV D184N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 182963 chr11 62398626 62398626 C A rs147084598 GANAB Synonymous SNV L228L 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Benign 16.64 182964 chr1 43896334 43896334 G A rs758261150 SZT2 Nonsynonymous SNV D1493N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 182965 chr15 102197130 102197130 A G TARS3 Nonsynonymous SNV I752T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 182966 chr11 93432004 93432004 G A rs372394144 CEP295 Nonsynonymous SNV G1309D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 182967 chr11 972187 972187 C T rs372522058 AP2A2 Synonymous SNV I135I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 182968 chr15 25972322 25972322 T C rs116493590 ATP10A Nonsynonymous SNV I278V 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 182969 chr8 41790359 41790359 C T rs34566148 KAT6A Synonymous SNV Q1793Q 0.005 0.008 0.003 1 6 3 0.003 1 0 1 0 0 Benign 1.695 182970 chr11 640041 640041 C A DRD4 Synonymous SNV P264P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 182971 chr11 640051 640051 G C DRD4 Nonsynonymous SNV G268R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 182972 chr11 640056 640056 T C rs866686536 DRD4 Synonymous SNV L269L 0.002 0 0 0 2 0 0 0 1 0 0 0 0.011 182973 chr11 640061 640061 G A rs767239460 DRD4 Nonsynonymous SNV R271Q 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.036 182974 chr11 640064 640064 G A rs749976218 DRD4 Nonsynonymous SNV G272D 0.002 0 0 1 2 0 0.003 0 1 0 0 0 4.55 182975 chr11 640065 640065 T C DRD4 Synonymous SNV G272G 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.048 182976 chr11 64054250 64054250 C G GPR137 Nonsynonymous SNV P85R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 182977 chr12 10233940 10233940 G A rs368867880 CLEC1A Nonsynonymous SNV T63M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.255 182978 chr8 55013467 55013467 C A LYPLA1 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 182979 chr11 6411935 6411941 TGCTGGC TGGCGCTGGCGCTGGC SMPD1 V36_L37insALA 0.003 0 0 1 3 0 0.003 0 0 0 0 0 182980 chr11 64603236 64603236 T C rs78471713 CDC42BPG Nonsynonymous SNV K586E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.351 182981 chr11 64603647 64603647 G T rs34241745 CDC42BPG Nonsynonymous SNV A537D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.025 182982 chr11 64604280 64604280 C T rs762926788 CDC42BPG Nonsynonymous SNV A439T 0.002 0 0 2 2 0 0.005 0 0 0 0 1 0.602 182983 chr11 64608103 64608103 C T CDC42BPG Synonymous SNV E118E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.66 182984 chr11 64665769 64665769 G A rs142830078 ATG2A Synonymous SNV R1571R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.607 182985 chr11 55595464 55595464 A C rs147331647 OR5L2 Nonsynonymous SNV Y257S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.23 182986 chr8 72967670 72967670 C A rs751782349 MSC-AS1, TRPA1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 182987 chr1 62349976 62349976 G A rs772149604 PATJ Synonymous SNV R1009R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.284 182988 chr2 36810608 36810608 C T rs946406569 FEZ2 Nonsynonymous SNV S127N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 182989 chr12 112171827 112171827 A G ACAD10 Nonsynonymous SNV S499G 0 0 0.003 0 0 0 0 1 0 0 0 0 21 182990 chr7 141536330 141536330 C T PRSS37 Synonymous SNV V191V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.69 182991 chr10 120353678 120353678 T - PRLHR H360Lfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 182992 chr11 66411364 66411384 GCTGCTGCTGCAGCAGCAGCC - rs773057844 RBM14-RBM4, RBM4 A264_A270del 0.001 0 0 0 1 0 0 0 0 0 0 0 182993 chr12 117908997 117908997 G A rs201637020 KSR2 Nonsynonymous SNV S904L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 182994 chr11 67205955 67205955 C G rs150750630 CORO1B Nonsynonymous SNV E454D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.43 182995 chr11 108160398 108160398 C T rs544891616 ATM Nonsynonymous SNV H1436Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.4 182996 chr1 78309007 78309007 T C rs201214368 MIGA1 Nonsynonymous SNV I304T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.426 182997 chr11 108369066 108369066 G T rs533719914 POGLUT3 Nonsynonymous SNV L10M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.7 182998 chr12 122186240 122186240 G A rs181072178 TMEM120B Nonsynonymous SNV R66H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22 182999 chr2 50765412 50765412 G T rs56086732 NRXN1 Nonsynonymous SNV L680I 0.006 0.013 0 3 7 5 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 183000 chr1 82432131 82432131 G A rs201334169 ADGRL2 Synonymous SNV Q712Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.55 183001 chr1 82452627 82452627 C T ADGRL2 Nonsynonymous SNV P1184L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.06 183002 chr15 48063502 48063502 G A rs765465054 SEMA6D Synonymous SNV S852S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 183003 chr15 48704816 48704816 G A rs61746008 FBN1 Nonsynonymous SNV R2726W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 183004 chr15 49716766 49716766 T C FGF7 Nonsynonymous SNV M91T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.264 183005 chr12 124846788 124846788 G C rs11057592 NCOR2 Nonsynonymous SNV A977G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.376 183006 chr12 12491457 12491457 T C MANSC1 Synonymous SNV R87R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.624 183007 chr12 125396512 125396512 C T rs140447474 UBC Synonymous SNV V602V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.471 183008 chr15 55916676 55916676 T C rs758910660 PRTG Nonsynonymous SNV N986S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.307 183009 chr11 116691768 116691768 C T rs145761354 APOA4 Nonsynonymous SNV V336M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 183010 chr15 56723692 56723692 C T rs144217705 MNS1 Nonsynonymous SNV R425H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.5 183011 chr12 130935848 130935848 A G rs149899219 RIMBP2 Synonymous SNV G115G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 183012 chr9 115925088 115925088 A G rs767071025 SLC31A2 Nonsynonymous SNV Y108C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.8 183013 chr1 94048026 94048026 C T rs116760841 BCAR3 Synonymous SNV T182T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.46 183014 chr12 131649768 131649768 C T rs11061358 LINC01257 0 0 0.007 0 0 0 0 2 0 0 0 0 2.661 183015 chr15 58971393 58971393 C T ADAM10 Synonymous SNV E138E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 183016 chr12 132329666 132329666 C T rs36031288 MMP17 Synonymous SNV P324P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 8.878 183017 chr1 100970418 100970418 C T rs954793631 CDC14A Synonymous SNV L602L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.965 183018 chr1 101705579 101705579 G A rs375635245 S1PR1 Nonsynonymous SNV G347S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 183019 chr2 74007174 74007174 A G rs562414734 DUSP11 Synonymous SNV Y23Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 183020 chr2 74462333 74462333 G A SLC4A5 Synonymous SNV A776A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 183021 chr12 133272521 133272521 T C rs76434782 PXMP2 Synonymous SNV H96H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.005 183022 chr11 76834800 76834800 A G rs781969027 CAPN5 Nonsynonymous SNV N603D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.306 183023 chr12 133319749 133319749 T C rs77051916 ANKLE2 Synonymous SNV T448T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 8.524 183024 chr12 133393296 133393296 G T rs79082946 GOLGA3 Nonsynonymous SNV P79Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 4.886 183025 chr2 85589377 85589377 A G rs777620422 ELMOD3 Synonymous SNV G41G 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 Likely benign 7.65 183026 chr1 248512684 248512684 G C rs62621369 OR14C36 Nonsynonymous SNV G203A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 183027 chr12 14849334 14849334 G T rs138766659 GUCY2C Nonsynonymous SNV P17T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 183028 chr2 85895281 85895281 C T SFTPB Stop gain W9X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 183029 chr2 86297179 86297179 C T rs185579866 POLR1A Nonsynonymous SNV V610I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 183030 chr12 20890132 20890132 G A rs746187601 SLCO1C1 Nonsynonymous SNV G374S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 183031 chr11 85309755 85309755 C T DLG2 Nonsynonymous SNV A33T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 183032 chr10 26414413 26414413 C A rs370314254 MYO3A Synonymous SNV R664R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.18 183033 chr10 27497295 27497295 G A rs778319933 ACBD5 Synonymous SNV S251S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.767 183034 chr7 27224230 27224230 C A rs529422357 HOXA11 Synonymous SNV A178A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.37 183035 chr11 640109 640109 A C rs769762387 DRD4 Nonsynonymous SNV Q287P 0.006 0.003 0 0 7 1 0 0 1 0 0 0 0.002 183036 chr2 24413311 24413311 A G rs200874988 FAM228A Synonymous SNV K144K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 183037 chr11 132306088 132306088 G A rs767079791 OPCML Nonsynonymous SNV R277C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 183038 chr1 151105514 151105514 G A rs761862225 SEMA6C Nonsynonymous SNV R739C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.3 183039 chr11 15170743 15170743 G A rs138418543 INSC Nonsynonymous SNV R8H 0.003 0 0 0 3 0 0 0 0 0 0 0 19.24 183040 chr11 1605706 1605706 G A rs371225501 KRTAP5-1 Synonymous SNV C258C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.302 183041 chr11 65307852 65307852 G A rs79320058 LTBP3 Synonymous SNV D1036D 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 11.8 183042 chr12 49420925 49420925 C G rs1002448611 KMT2D Nonsynonymous SNV A4942P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.65 183043 chr12 49440418 49440418 G T rs758265897 KMT2D Synonymous SNV V1464V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.495 183044 chr11 65361309 65361309 T C rs76353556 KCNK7 Nonsynonymous SNV K119R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 22.6 183045 chr11 65361338 65361338 G A rs76755084 KCNK7 Synonymous SNV G109G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.67 183046 chr12 107395116 107395116 - G CRY1 Frameshift insertion V209Afs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 183047 chr12 107395117 107395117 C A CRY1 Nonsynonymous SNV V209L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 183048 chr12 107395118 107395118 - G CRY1 Frameshift insertion V209Sfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 183049 chr12 52215282 52215282 C G FIGNL2 Nonsynonymous SNV G306R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 183050 chr1 154480901 154480901 T C rs745330193 TDRD10 Nonsynonymous SNV F29L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.88 183051 chr10 54529066 54529066 C G rs137974936 MBL2 Nonsynonymous SNV S105T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.011 183052 chr12 109877523 109877523 G C rs370592019 MYO1H Nonsynonymous SNV L778F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 183053 chr11 67220015 67220015 C T rs79423227 GPR152 Nonsynonymous SNV G61R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 20.2 183054 chr10 63170314 63170314 C T rs199546375 TMEM26 Synonymous SNV A291A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.96 183055 chr15 91486250 91486250 C T rs79604948 UNC45A Nonsynonymous SNV A177V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.13 183056 chr12 54960763 54960763 G A rs374027304 PDE1B Nonsynonymous SNV R20H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 183057 chr2 42990436 42990436 C T rs144595200 OXER1 Nonsynonymous SNV R295H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 183058 chr12 55945258 55945258 T C rs11835716 OR6C4 Nonsynonymous SNV M83T 0.003 0 0.007 0 3 0 0 2 0 0 0 0 22 183059 chr12 55945265 55945265 A G rs74093226 OR6C4 Synonymous SNV T85T 0 0 0.007 0 0 0 0 2 0 0 0 0 2.371 183060 chr15 99874245 99874245 G A rs11857384 LRRC28 Nonsynonymous SNV R14H 0.003 0 0 0 3 0 0 0 0 0 0 0 15.55 183061 chr12 55945585 55945588 TCTT - rs59693527 OR6C4 L192Qfs*3 0 0 0.007 0 0 0 0 2 0 0 0 0 183062 chr12 55945856 55945856 A G rs57386660 OR6C4 Synonymous SNV L282L 0.003 0 0.007 0 3 0 0 2 0 0 0 0 2.435 183063 chr12 56031318 56031318 A T rs76940436 OR10P1 Nonsynonymous SNV I215F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.6 183064 chr10 71139772 71139772 C T rs541193570 HK1 Nonsynonymous SNV R364C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 183065 chr9 139948399 139948399 - GCGGCGGCCAGCAGCAGCG ENTPD2 Frameshift insertion G18Afs*65 0 0.003 0 0 0 1 0 0 0 0 0 0 183066 chr11 285263 285263 G A rs147916706 NLRP6 Nonsynonymous SNV G879S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.009 183067 chr12 5687598 5687598 G A rs189494523 ANO2 Nonsynonymous SNV R774W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 183068 chr12 118639253 118639253 G A TAOK3 Stop gain R279X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 183069 chr2 167136952 167136952 C A rs376502773 SCN9A Nonsynonymous SNV C753F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 33 183070 chr12 57561297 57561297 A G rs369984474 LRP1 Synonymous SNV R995R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.987 183071 chr1 159159621 159159621 G C CADM3 Nonsynonymous SNV S50T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 183072 chr2 62069385 62069385 T - rs762087385 FAM161A Stop gain V99* 0.001 0 0 0 1 0 0 0 0 0 0 0 183073 chr12 6458165 6458165 C A rs760463562 SCNN1A Nonsynonymous SNV V561F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 183074 chr1 162482581 162482581 A G rs138324013 UHMK1 Nonsynonymous SNV D257G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.76 183075 chr2 176995279 176995296 CGCACGCGCCCCCGCAGG - rs564911040 HOXD8 P65_A70del 0.001 0 0 0 1 0 0 0 0 0 0 0 183076 chr12 124315140 124315140 - CGAAA DNAH10 Frameshift insertion F1365Kfs*37 0.001 0 0 0 1 0 0 0 0 0 0 0 183077 chr2 179197650 179197650 G A OSBPL6 Nonsynonymous SNV R159Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 183078 chr1 168013884 168013884 C T DCAF6 Synonymous SNV N411N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 183079 chr9 24543670 24543670 A C rs934277687 IZUMO3 Synonymous SNV A185A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 183080 chr7 76019569 76019569 C T rs770061203 SSC4D Nonsynonymous SNV R512H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 183081 chr12 7173893 7173893 G A rs117907409 C1S Nonsynonymous SNV D148N 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 183082 chr2 182543458 182543458 C T rs748906439 NEUROD1 Nonsynonymous SNV E44K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21 183083 chr11 47311598 47311598 G A rs142722099 MADD Synonymous SNV P936P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 183084 chr9 33464083 33464083 G T rs114911109 NOL6 Synonymous SNV P952P 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 1.426 183085 chr11 8111729 8111729 C T rs779223226 TUB Synonymous SNV A68A 0.003 0 0 0 4 0 0 0 0 0 0 0 17.69 183086 chr12 132335609 132335609 G A rs186856639 MMP17 Synonymous SNV A534A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.811 183087 chr12 80328547 80328547 C T rs376917306 PPP1R12A Synonymous SNV E55E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 183088 chr2 186656322 186656322 A G rs202032936 FSIP2 Nonsynonymous SNV I1487V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.3 183089 chr2 97482042 97482042 C G rs373318478 CNNM3 Nonsynonymous SNV R10G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 183090 chr10 99079255 99079255 G A rs7070246 FRAT1 Synonymous SNV A15A 0.002 0.003 0 0 2 1 0 0 1 0 0 0 14.68 183091 chr9 71534419 71534419 C T rs184162931 PIP5K1B Synonymous SNV S336S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.3 183092 chr9 72520930 72520930 G T rs771229166 C9orf135 Nonsynonymous SNV D91Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 183093 chr10 99437651 99437651 C G rs78694894 AVPI1 Nonsynonymous SNV S140T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 183094 chr10 99527500 99527500 C T rs149293894 SFRP5 Nonsynonymous SNV R242Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.9 183095 chr11 101347165 101347165 G A rs150183033 TRPC6 Synonymous SNV F537F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.386 183096 chr16 2814580 2814580 G A SRRM2 Nonsynonymous SNV V1351I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.39 183097 chr7 99768090 99768090 G A rs143144193 GPC2 Synonymous SNV G501G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.744 183098 chr12 98849074 98849074 T A rs117051519 SLC9A7P1 0 0 0.024 0 0 0 0 7 0 0 0 0 12.04 183099 chr12 98849413 98849413 G A rs112462579 SLC9A7P1 0 0 0.027 0 0 0 0 8 0 0 0 0 6.868 183100 chr2 202154201 202154201 G A rs185688225 FLACC1 Nonsynonymous SNV T374M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.353 183101 chr12 25380194 25380194 T C rs370920665 KRAS Synonymous SNV K88K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.665 183102 chr12 9986012 9986012 A G rs368988575 KLRF1 Nonsynonymous SNV K100E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 183103 chr12 27915912 27915912 T C rs187627523 MANSC4 Nonsynonymous SNV K261R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.69 183104 chr9 79326270 79326270 C A rs765283530 PRUNE2 Nonsynonymous SNV C307F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 183105 chr16 30419384 30419384 G C rs199795270 ZNF771 Nonsynonymous SNV E4Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 23.4 183106 chr9 87317333 87317333 A G rs200467220 NTRK2 Nonsynonymous SNV I120V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 4.324 183107 chr11 101776527 101776527 A G rs140344944 ANGPTL5 Nonsynonymous SNV L98P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 26.9 183108 chr11 1017768 1017768 G A rs201538911 MUC6 Nonsynonymous SNV T1678I 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 9.319 183109 chr13 111353896 111353896 A G rs374089139 CARS2 Synonymous SNV Y94Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 183110 chr1 202414269 202414269 C T PPP1R12B Nonsynonymous SNV S588F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 183111 chr9 977259 977259 C T DMRT3 Synonymous SNV L86L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.9 183112 chr9 977295 977295 G C rs371952660 DMRT3 Synonymous SNV P98P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 9.473 183113 chr12 45105097 45105097 G A rs747396252 NELL2 Synonymous SNV H389H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.728 183114 chr2 128918069 128918069 G A UGGT1 Synonymous SNV E866E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 183115 chr12 48137375 48137375 G A rs569631267 RAPGEF3 Nonsynonymous SNV A546V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.92 183116 chr11 102094424 102094424 C T rs61749258 YAP1 Synonymous SNV P318P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 14.66 183117 chr13 26117502 26117502 A G rs777272921 ATP8A2 Nonsynonymous SNV I245V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.864 183118 chr13 27255402 27255402 C G rs151322145 WASF3 Nonsynonymous SNV P307A 0.001 0.003 0.003 5 1 1 0.013 1 0 0 0 0 Likely benign 21.3 183119 chr13 27847539 27847539 C T rs760917496 RASL11A Nonsynonymous SNV P171S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 183120 chr12 49435279 49435279 C T rs181521514 KMT2D Nonsynonymous SNV D2092N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 183121 chr12 49952674 49952674 C T rs149885571 MCRS1 Synonymous SNV P227P 0.002 0 0 0 2 0 0 0 0 0 0 0 12 183122 chr2 220348409 220348409 T G rs892492321 SPEG Nonsynonymous SNV L2075R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 183123 chr16 50388353 50388353 C T rs746794686 BRD7 Synonymous SNV L143L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.88 183124 chr16 53503970 53503970 T C RBL2 Synonymous SNV A706A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.127 183125 chr8 142138840 142138840 C G rs1032245194 DENND3 Nonsynonymous SNV P12A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.5 183126 chr12 1137283 1137283 A G rs769096127 ERC1 Nonsynonymous SNV M72V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.88 183127 chr13 36942336 36942336 A C SPART-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.15 183128 chrX 15365438 15365438 C T rs146086561 VEGFD Nonsynonymous SNV M262I 0 0.005 0 2 0 2 0.005 0 0 1 0 1 22 183129 chr11 112070499 112070499 T A BCO2 Nonsynonymous SNV C199S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 183130 chr16 57486806 57486806 C T rs779510052 COQ9 Synonymous SNV P112P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.41 183131 chr2 160735143 160735143 C T rs909068825 LY75, LY75-CD302 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 183132 chr2 163128755 163128755 G A rs200833729 IFIH1 Nonsynonymous SNV P866L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 183133 chr12 52966343 52966343 A G rs780722617 KRT74 Nonsynonymous SNV Y194H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 183134 chr13 50123620 50123620 G C rs772129159 RCBTB1 Nonsynonymous SNV A340G 0 0 0.003 0 0 0 0 1 0 0 0 0 22 183135 chr13 51826156 51826156 T C rs202058194 FAM124A Nonsynonymous SNV I218T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 183136 chr11 115080375 115080375 G C rs768937947 CADM1 Nonsynonymous SNV P333A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.411 183137 chr13 52971677 52971677 G A THSD1 Synonymous SNV A237A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.379 183138 chr13 58208507 58208507 T A rs773465495 PCDH17 Synonymous SNV T609T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.348 183139 chr13 61986561 61986561 C G PCDH20 Synonymous SNV L557L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.193 183140 chr1 226175790 226175790 G A rs61731742 SDE2 Nonsynonymous SNV T314I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 183141 chr1 226420810 226420810 C T rs768080554 LIN9 Nonsynonymous SNV A411T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 183142 chr1 227946990 227946990 C T rs548643206 SNAP47 Synonymous SNV Y264Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 183143 chr1 228111923 228111923 C T rs200491622 WNT9A Synonymous SNV K177K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.37 183144 chr13 96508518 96508518 C T rs996482771 UGGT2 Nonsynonymous SNV R1301H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 183145 chr12 53878107 53878107 C T rs199687123 MAP3K12 Synonymous SNV L394L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 183146 chr1 228434477 228434477 C T rs181560984 OBSCN Nonsynonymous SNV R1336W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.34 183147 chr12 124341699 124341699 C T rs752625784 DNAH10 Nonsynonymous SNV P2061S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.5 183148 chr1 228646013 228646013 C T rs199958932 HIST3H2BB Synonymous SNV G61G 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 16.59 183149 chrX 65824340 65824340 C T rs200268345 EDA2R Nonsynonymous SNV R92Q 0 0.005 0 0 0 2 0 0 0 1 0 0 18.39 183150 chr2 179341888 179341888 C T FKBP7 Nonsynonymous SNV V92I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 183151 chr2 179453684 179453684 G A rs781000091 TTN Nonsynonymous SNV T11858I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 183152 chr2 179615187 179615187 A G rs923904530 TTN Synonymous SNV N3980N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.18 183153 chr1 232941677 232941677 G C MAP10 Nonsynonymous SNV R303P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 183154 chrX 84362766 84362766 T C rs898279546 SATL1 Synonymous SNV Q403Q 0 0.005 0 0 0 2 0 0 0 1 0 0 0.004 183155 chr14 103394761 103394761 A G rs386834170 AMN 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 23.8 183156 chr2 179650454 179650454 C T rs766935265 TTN Nonsynonymous SNV D750N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 183157 chr14 104640615 104640615 C T rs371784932 KIF26A Nonsynonymous SNV R721C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 183158 chr2 241829446 241829446 G A rs369380286 MAB21L4 Synonymous SNV D290D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.555 183159 chr14 105405889 105405889 T A AHNAK2 Nonsynonymous SNV H5200L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 183160 chr14 105420171 105420171 C G rs114265418 AHNAK2 Synonymous SNV P439P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.936 183161 chr1 237889583 237889583 G A rs577371071 RYR2 Nonsynonymous SNV R3567H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.427 183162 chr1 241676976 241676976 G A rs61753295 FH Nonsynonymous SNV A102V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 183163 chr14 105634205 105634205 G A rs78862296 JAG2 Synonymous SNV S102S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 9.02 183164 chr3 3084045 3084045 A G CNTN4 Nonsynonymous SNV D488G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 183165 chr12 65269339 65269339 C T rs117568419 TBC1D30 Nonsynonymous SNV P662L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.744 183166 chr12 21175788 21175788 T C rs764743572 SLCO1B7 Synonymous SNV C115C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 183167 chr12 21377773 21377773 C T rs368052440 SLCO1B1 Nonsynonymous SNV S622L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 183168 chr12 6978542 6978542 A G TPI1 Nonsynonymous SNV K149E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 183169 chr12 7045907 7045909 CAG - ATN1 Q502del 0.001 0.008 0 0 1 3 0 0 0 0 0 0 183170 chr14 21623744 21623744 G A rs374086217 OR5AU1 Synonymous SNV G96G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.333 183171 chr2 207171983 207171983 C G rs748115776 ZDBF2 Nonsynonymous SNV P911A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 183172 chr11 130343537 130343537 G A ADAMTS15 Nonsynonymous SNV E892K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 183173 chr10 1170939 1170939 C T rs574825847 WDR37 Nonsynonymous SNV A443V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 29.9 183174 chr12 7805342 7805342 C T APOBEC1 Nonsynonymous SNV G45D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.6 183175 chr12 33529800 33529800 A T SYT10 Nonsynonymous SNV S513T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.21 183176 chr14 23862962 23862962 G A rs140305424 MYH6 Synonymous SNV D947D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 6.784 183177 chr8 38827289 38827289 C A PLEKHA2 Nonsynonymous SNV T422N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 183178 chr11 64956192 64956192 C T rs372268910 CAPN1 Synonymous SNV T380T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 183179 chr3 25678716 25678716 C T rs202236498 TOP2B Nonsynonymous SNV S205N 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.1 183180 chr14 24785770 24785770 C T rs142918543 LTB4R Synonymous SNV L305L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.367 183181 chr8 42037586 42037586 T A PLAT 0 0 0 2 0 0 0.005 0 0 0 0 0 24 183182 chr8 54859270 54859270 C G RGS20 Synonymous SNV S27S 0 0 0 2 0 0 0.005 0 0 0 0 0 12.03 183183 chr2 219676970 219676970 C T rs774541162 CYP27A1 Nonsynonymous SNV R158C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 183184 chr14 35550357 35550357 A C rs369006342 FAM177A1 Nonsynonymous SNV N212H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 183185 chr14 38723869 38723869 G A rs150923168 CLEC14A Synonymous SNV G453G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.506 183186 chr11 22382519 22382519 C T rs371180115 SLC17A6 Nonsynonymous SNV T217I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.68 183187 chr11 22833411 22833411 T C GAS2 Nonsynonymous SNV L264S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.54 183188 chr12 49361925 49361925 C T rs140227583 WNT10B Nonsynonymous SNV S172N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 183189 chr2 20647604 20647604 T G rs137856773 RHOB Nonsynonymous SNV H126Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.024 183190 chr10 129903826 129903826 G A rs753990300 MKI67 Nonsynonymous SNV T1733I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 183191 chr11 6648423 6648423 C T rs532399859 DCHS1 Synonymous SNV T1949T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.736 183192 chr12 49937988 49937988 C T KCNH3 Nonsynonymous SNV R278C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 183193 chr8 71057028 71057028 T C NCOA2 Synonymous SNV L733L 0 0 0 3 0 0 0.008 0 0 0 0 0 2.293 183194 chr11 67166310 67166310 G A rs2228522 PPP1CA Synonymous SNV Y211Y 0.008 0.003 0.01 3 9 1 0.008 3 0 0 0 0 4.988 183195 chr12 50232608 50232608 C T rs145982210 BCDIN3D Nonsynonymous SNV R142Q 0.005 0 0 0 6 0 0 0 0 0 0 0 8.539 183196 chr11 67926130 67926130 C A rs371880484 KMT5B Nonsynonymous SNV L389F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 183197 chr11 2920820 2920820 G A rs117868609 SLC22A18AS Nonsynonymous SNV R38W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.88 183198 chr11 2930525 2930525 G A SLC22A18 Synonymous SNV L199L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.82 183199 chr8 8748306 8748306 C G rs145773634 MFHAS1 Nonsynonymous SNV G755R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.22 183200 chr10 134942110 134942110 G T rs374324374 ADGRA1 Nonsynonymous SNV A163S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 183201 chr14 55604773 55604773 C T rs202159462 LGALS3 Nonsynonymous SNV A10V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 183202 chr2 27294266 27294266 A G OST4 Nonsynonymous SNV V22A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 183203 chr14 58796266 58796266 A T ARID4A Nonsynonymous SNV D228V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 183204 chr14 58831377 58831377 G A rs773944638 ARID4A Nonsynonymous SNV R857Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 183205 chr3 46008012 46008012 C T rs116798205 FYCO1 Synonymous SNV E938E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 4.215 183206 chr3 46009981 46009981 C T rs9875356 FYCO1 Nonsynonymous SNV R282H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign/Likely benign 3.438 183207 chr14 59961824 59961824 G A JKAMP Nonsynonymous SNV V108I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.98 183208 chr17 1538428 1538428 C T rs147793367 SCARF1 Nonsynonymous SNV R706H 0.003 0 0 0 4 0 0 0 0 0 0 0 24.9 183209 chr10 13534652 13534652 C T rs143653099 BEND7 Nonsynonymous SNV V227I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.602 183210 chr3 46542052 46542052 G A rs116177254 RTP3 Nonsynonymous SNV R121Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.514 183211 chr3 46718344 46718344 G A rs72892134 ALS2CL Synonymous SNV C642C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.373 183212 chr12 53002091 53002091 G A KRT73 Synonymous SNV N504N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.923 183213 chr11 372672 372672 G A rs191975431 B4GALNT4 Nonsynonymous SNV R89Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 183214 chr11 71810214 71810214 G A rs773514977 LAMTOR1 Nonsynonymous SNV P44L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 183215 chr17 17069745 17069745 A C MPRIP Nonsynonymous SNV T1646P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.245 183216 chr2 29366628 29366628 G A rs375223459 CLIP4 Synonymous SNV P234P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.091 183217 chr17 17699325 17699325 C T rs748188039 RAI1 Synonymous SNV P1021P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.217 183218 chr12 53293635 53293635 C T rs201875017 KRT8 Nonsynonymous SNV R302H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.5 183219 chr2 30143004 30143004 G T rs587778020 ALK Nonsynonymous SNV F174L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.4 183220 chr2 31155016 31155016 C T rs139793019 GALNT14 Nonsynonymous SNV V326I 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.86 183221 chr11 44636848 44636848 G A rs2303864 CD82 Synonymous SNV V96V 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 9.684 183222 chr14 67859955 67859955 G T PLEK2 Synonymous SNV R131R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.656 183223 chr11 75133709 75133709 C T KLHL35 Nonsynonymous SNV S556N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 183224 chr2 33768602 33768602 C T rs114668804 RASGRP3 Synonymous SNV H433H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.84 183225 chr12 53895199 53895199 G A TARBP2 Nonsynonymous SNV E3K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 183226 chr14 73711590 73711590 A G rs79255724 LOC101928123 0 0 0.003 0 0 0 0 1 0 0 0 0 6.585 183227 chr3 51395412 51395412 G A rs775055751 DOCK3 Synonymous SNV G1596G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.92 183228 chr2 238262019 238262019 C T COL6A3 Nonsynonymous SNV G1612S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 183229 chr10 28345493 28345493 T G rs201809680 MPP7 Synonymous SNV P489P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 183230 chr11 76892617 76892617 G C rs200641606 MYO7A Nonsynonymous SNV Q962H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 183231 chr11 46896499 46896499 G A rs745826848 LRP4 Nonsynonymous SNV R1361C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 183232 chr3 52365225 52365225 C T rs199505182 DNAH1 Synonymous SNV D311D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 10.48 183233 chr2 43798960 43798960 C A THADA Synonymous SNV R650R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 183234 chr11 47612331 47612331 - GGCCCAGCA rs775953695 C1QTNF4 G10_P11insLLG 0 0.003 0 0 0 1 0 0 0 0 0 0 183235 chr2 48027520 48027520 G C rs61748083 MSH6 Nonsynonymous SNV V670L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.81 183236 chr17 2234359 2234359 C T TSR1 Stop gain W514X 0.003 0 0 0 4 0 0 0 0 0 0 0 40 183237 chr14 88452914 88452914 G A GALC Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.891 183238 chr11 840439 840439 C T rs778329133 POLR2L Nonsynonymous SNV R46H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 183239 chr2 55119771 55119771 T A rs200933456 EML6 Nonsynonymous SNV F907Y 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 31 183240 chr13 40261721 40261721 C T rs145427916 COG6 Synonymous SNV P290P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 12.55 183241 chr14 94545709 94545709 G A rs145433649 DDX24 Nonsynonymous SNV A127V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.067 183242 chr3 64132564 64132564 C T rs144757200 PRICKLE2 Synonymous SNV T534T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.76 183243 chr14 99866490 99866490 T C rs530799111 SETD3 Synonymous SNV T428T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.411 183244 chr13 48878067 48878067 C A RB1 Synonymous SNV R7R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.31 183245 chr3 97311483 97311483 C T rs4857276 EPHA6 Nonsynonymous SNV A197V 0.003 0 0.003 1 3 0 0.003 1 1 0 0 0 25.9 183246 chr10 50678820 50678820 A G rs35365613 ERCC6 Synonymous SNV S1062S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.019 183247 chr15 101094072 101094073 CA - rs879014504 PRKXP1 0 0 0.027 0 0 0 0 8 0 0 1 0 183248 chr10 50960782 50960782 C T OGDHL Nonsynonymous SNV R70Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 183249 chr13 52598191 52598191 G A rs765666509 ALG11 Nonsynonymous SNV G109S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.65 183250 chr13 53227206 53227206 C T rs138507433 SUGT1 Synonymous SNV L22L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.04 183251 chr13 58298909 58298909 C T rs138830034 PCDH17 Synonymous SNV Y987Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.447 183252 chr15 25339076 25339076 A G rs77873907 SNHG14 0 0 0.027 0 0 0 0 8 0 0 0 0 3.78 183253 chr10 5952927 5952927 G A rs138697938 FBH1 Synonymous SNV A275A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 14.72 183254 chr17 3582949 3582949 C T rs146599669 P2RX5 Synonymous SNV A374A 0.003 0 0 0 4 0 0 0 0 0 0 0 11.05 183255 chr3 111794245 111794245 G A rs373629952 TMPRSS7 Nonsynonymous SNV V495I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 183256 chr2 85846360 85846360 G A USP39 Nonsynonymous SNV D96N 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 183257 chr2 85846361 85846361 A T USP39 Nonsynonymous SNV D96V 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 183258 chr12 105591713 105591713 G A rs148406749 APPL2 Synonymous SNV T300T 0.003 0 0 0 4 0 0 0 0 0 0 0 9.213 183259 chr3 36874508 36874508 C T rs766864231 TRANK1 Nonsynonymous SNV R2145Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 183260 chr3 113218371 113218371 - G SPICE1 Frameshift insertion Q69Pfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 183261 chr3 38136526 38136526 A G DLEC1 Synonymous SNV T692T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 183262 chr15 41483672 41483672 A G EXD1 Nonsynonymous SNV S220P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 183263 chr10 73122353 73122353 G A rs572730455 SLC29A3 Synonymous SNV V394V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.539 183264 chr10 73406232 73406232 G A rs111033369 CDH23 Nonsynonymous SNV S436N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 183265 chr3 42236312 42236312 A G rs575394877 TRAK1 Nonsynonymous SNV D257G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 183266 chr9 133760510 133760510 G T ABL1 Nonsynonymous SNV A945S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 183267 chr15 42145092 42145092 C T rs769332593 SPTBN5 Nonsynonymous SNV R3426Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 183268 chr11 56020571 56020571 A C OR5T3 Nonsynonymous SNV D299A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 183269 chr15 42164051 42164051 C T rs201503588 SPTBN5 Nonsynonymous SNV G1744S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.121 183270 chr3 122340339 122340339 A G rs772478731 PARP15 Nonsynonymous SNV K137R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.001 183271 chr12 113442853 113442853 G A OAS2 Nonsynonymous SNV V432I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.002 183272 chr14 20502584 20502584 T G OR4K13 Nonsynonymous SNV M112L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.03 183273 chr12 113744338 113744338 C T rs151176736 SLC8B1 Nonsynonymous SNV R429Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 183274 chr15 43815246 43815246 A G rs999349797 MAP1A Synonymous SNV L525L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 183275 chr15 43818071 43818071 A C rs202060676 MAP1A Nonsynonymous SNV K1467T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 183276 chr12 117157598 117157598 C T rs150275614 C12orf49 Synonymous SNV L65L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 18.18 183277 chr10 85997267 85997267 C T rs750070213 LRIT1 Nonsynonymous SNV A100T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.25 183278 chr15 49716619 49716619 C G rs895834784 FGF7 Nonsynonymous SNV T42R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 183279 chr15 50593056 50593056 T C rs777573177 GABPB1 Synonymous SNV T221T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.295 183280 chr15 50830973 50830973 T C rs377080024 USP50 Nonsynonymous SNV K246E 0 0 0.003 0 0 0 0 1 0 0 0 0 24 183281 chr3 128526409 128526409 C G rs61758751 RAB7A Synonymous SNV A141A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 15.03 183282 chr10 95095691 95095691 A G MYOF Nonsynonymous SNV V1504A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 183283 chr17 40344974 40344974 G A rs781054734 GHDC Stop gain Q113X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 183284 chr2 131688828 131688828 A G rs140757835 ARHGEF4 Nonsynonymous SNV K1286E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.06 183285 chr3 49459856 49459856 G A rs774408322 AMT Nonsynonymous SNV R10C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 183286 chr3 129599320 129599320 T C TMCC1 Synonymous SNV T12T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 183287 chr12 124069351 124069351 C T TMED2 Synonymous SNV D56D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 183288 chr15 58982838 58982838 T A rs186323386 HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.295 183289 chr12 124274569 124274569 C G DNAH10 Synonymous SNV G572G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.165 183290 chr2 152321067 152321067 A G rs374121051 RIF1 Nonsynonymous SNV N1678S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 183291 chr3 52548194 52548194 C T rs139838594 STAB1 Nonsynonymous SNV R1171C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 183292 chr13 23907724 23907724 C G rs144179865 SACS Nonsynonymous SNV V3284L 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 Conflicting interpretations of pathogenicity 23 183293 chr15 64388263 64388263 C T rs374656708 SNX1 Synonymous SNV P17P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 183294 chr11 57156084 57156084 C A rs758760583 PRG2 Nonsynonymous SNV G144V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 183295 chr13 24863312 24863312 A T rs777830854 SPATA13 Nonsynonymous SNV Q183L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 183296 chr12 129190691 129190691 A T rs144227199 TMEM132C Nonsynonymous SNV T1060S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.57 183297 chr12 129299535 129299535 C T rs148020190 SLC15A4 Synonymous SNV S209S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 183298 chr15 65623765 65623765 T C IGDCC3 Nonsynonymous SNV I461V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 183299 chr15 65688236 65688236 G T rs145183412 IGDCC4 Synonymous SNV A421A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.22 183300 chr13 25362250 25362250 G A rs765908473 RNF17 Nonsynonymous SNV A246T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 183301 chr12 130184667 130184667 G A rs146143180 TMEM132D Nonsynonymous SNV P219L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.486 183302 chr11 57995802 57995802 G A rs370999431 OR10Q1 Synonymous SNV F182F 0 0.008 0 0 0 3 0 0 0 0 0 0 7.882 183303 chr14 33015782 33015782 A G AKAP6 Synonymous SNV E641E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 183304 chr2 165947141 165947141 A G SCN3A Nonsynonymous SNV M1792T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.5 183305 chr15 73614944 73614944 G C rs750255859 HCN4 Nonsynonymous SNV P1164A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 183306 chr15 73832831 73832831 G C rs763285923 REC114 Synonymous SNV G85G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 183307 chr15 75131636 75131636 G C rs370648728 ULK3 Nonsynonymous SNV L311V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 183308 chr11 59557998 59557998 A T STX3 Nonsynonymous SNV E99V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 183309 chr13 37269371 37269371 A G SERTM1 Synonymous SNV L52L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.028 183310 chr12 14834323 14834323 C T rs538815024 GUCY2C Nonsynonymous SNV D234N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.056 183311 chr13 39446955 39446955 G A rs1013895772 FREM2 Nonsynonymous SNV G2687E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 183312 chr12 1995150 1995150 G A rs200348756 CACNA2D4 Nonsynonymous SNV A350V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 183313 chr12 21459880 21459880 G A SLCO1A2 Synonymous SNV S126S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.98 183314 chr12 22015989 22015989 C T rs141281214 ABCC9 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 183315 chr13 46726923 46726923 C T rs138605281 LCP1 Nonsynonymous SNV R244K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.14 183316 chr3 183732058 183732058 A T ABCC5 Synonymous SNV T41T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.721 183317 chr3 108179165 108179165 C T rs61739469 MYH15 Synonymous SNV T658T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.575 183318 chr15 83518603 83518603 G A HOMER2 Nonsynonymous SNV T299I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 183319 chr12 26868323 26868323 T G ITPR2 Nonsynonymous SNV E255A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 183320 chr3 184062520 184062520 G C rs747633688 FAM131A Nonsynonymous SNV S203T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 183321 chr11 6265521 6265521 G A rs771994676 CNGA4 Nonsynonymous SNV R537Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 183322 chr9 7015896 7015896 G C rs143113009 KDM4C Synonymous SNV L487L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11 183323 chr15 89401822 89401822 A G rs756799210 ACAN Synonymous SNV P2002P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.006 183324 chr11 64119759 64119759 G A rs370433115 CCDC88B Nonsynonymous SNV R1086Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 183325 chr14 68044861 68044861 G A PLEKHH1 Nonsynonymous SNV C899Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 183326 chr12 42858733 42858733 T C rs747305137 PRICKLE1 Nonsynonymous SNV D368G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.61 183327 chr14 70246070 70246070 A C rs369121968 SLC10A1 Nonsynonymous SNV M192R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.7 183328 chr14 70989955 70989955 G A rs188347579 ADAM20 Nonsynonymous SNV T507M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.53 183329 chr12 48137399 48137399 G T rs144954699 RAPGEF3 Nonsynonymous SNV A538D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 183330 chr3 122632200 122632200 G A rs139416658 SEMA5B Synonymous SNV P726P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.735 183331 chr14 73964894 73964894 G A rs143100290 HEATR4 Synonymous SNV D837D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 183332 chr16 112994 112994 G A rs369857626 RHBDF1 Nonsynonymous SNV R217W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 183333 chr12 49227102 49227102 C T rs769461806 DDX23 Synonymous SNV K587K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 183334 chr2 207656517 207656517 C T rs200616436 FASTKD2 Synonymous SNV S708S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.744 183335 chr14 105833655 105833655 C A PACS2 Nonsynonymous SNV Q177K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 183336 chr3 124826478 124826478 C T rs201509993 SLC12A8 Nonsynonymous SNV E518K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 183337 chr3 125266251 125266251 G A rs781323163 OSBPL11 Nonsynonymous SNV R614W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 183338 chr12 50745684 50745719 GCCTGCTGAGGGGTGAGAGTGATCCCCTGAGCCTGC - rs745477200 FAM186A Q1635_A1646del 0.001 0 0 0 1 0 0 0 0 0 0 0 183339 chr16 1272915 1272915 G A rs749237776 TPSG1 Nonsynonymous SNV S83F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 183340 chr14 20470755 20470755 T C rs191553641 OR4Q2 Nonsynonymous SNV L145S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 183341 chr11 122848519 122848519 G A rs138024906 BSX Synonymous SNV D180D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.821 183342 chr12 51759305 51759305 C T rs35597472 GALNT6 Synonymous SNV V241V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.18 183343 chr11 123351524 123351524 C T rs141347127 GRAMD1B Synonymous SNV S9S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 22.4 183344 chr3 129177445 129177445 A T IFT122 Nonsynonymous SNV K66M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 183345 chr14 81209576 81209576 C T CEP128 Synonymous SNV E883E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 183346 chr12 52797534 52797534 C G rs144698413 KRT82 Nonsynonymous SNV E191Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 183347 chr16 19460877 19460877 T C rs779093638 TMC5 Synonymous SNV Y324Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 183348 chr4 3429863 3429863 T C RGS12 Synonymous SNV A478A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 183349 chr14 89061118 89061118 T A rs145362297 ZC3H14 Synonymous SNV L16L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.377 183350 chr14 21549974 21549974 C T rs572333686 ARHGEF40 Nonsynonymous SNV R269C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.2 183351 chr2 219508547 219508547 C G ZNF142 Nonsynonymous SNV G898R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.3 183352 chr4 5448423 5448423 A G STK32B Nonsynonymous SNV M166V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 183353 chr2 219516575 219516575 G A rs763110878 ZNF142 Synonymous SNV H243H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.47 183354 chr4 5889128 5889128 G A rs144204616 CRMP1 Synonymous SNV T3T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.552 183355 chr11 124519595 124519595 G C rs777190714 SIAE Nonsynonymous SNV I214M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 183356 chr11 124745116 124745116 G A rs189303564 ROBO3 Nonsynonymous SNV S728N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.8 183357 chr16 2121525 2121525 G C rs1060504088 TSC2 Synonymous SNV L418L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.08 183358 chr3 137742541 137742541 G A rs114998965 CLDN18 Nonsynonymous SNV V88I 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 24.9 183359 chr2 220348061 220348061 C G rs200949797 SPEG Nonsynonymous SNV A1959G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.68 183360 chr17 7478078 7478078 A G rs192210480 SNORA48 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.47 183361 chr16 23479009 23479009 A G rs768157448 GGA2 Synonymous SNV L582L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.748 183362 chr16 23768529 23768529 G A rs112597134 CHP2 Nonsynonymous SNV R141H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26.7 183363 chr16 2503537 2503537 C T rs199743115 CCNF Nonsynonymous SNV R264W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 183364 chr3 151094807 151094807 A G MED12L Nonsynonymous SNV N1351S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.606 183365 chr16 29856036 29856036 G A rs144055211 MVP Synonymous SNV L553L 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 6.091 183366 chr16 3026802 3026802 G A rs200289802 PKMYT1 Nonsynonymous SNV R12W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 183367 chr17 7689592 7689592 T C rs746570252 DNAH2 Nonsynonymous SNV W2094R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 183368 chr4 15587809 15587809 T A rs199688524 CC2D2A Synonymous SNV I1335I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.67 183369 chr16 30960612 30960612 T A rs542023664 ORAI3 Star tloss M1? 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.9 183370 chr17 7753163 7753163 T C rs772189187 KDM6B Synonymous SNV F1155F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.603 183371 chrX 48826360 48826360 G A rs782678377 KCND1 Nonsynonymous SNV R107W 0.002 0 0 2 2 0 0.005 0 1 0 0 1 25.2 183372 chr17 7762900 7762900 G A rs200846482 CYB5D1 Synonymous SNV L219L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.844 183373 chr2 231314352 231314352 A T rs755706686 SP100 Synonymous SNV T196T 0.007 0 0 2 8 0 0.005 0 0 0 0 0 0.007 183374 chrX 49028392 49028392 C G PLP2 Synonymous SNV A15A 0.002 0 0 2 2 0 0.005 0 1 0 0 1 14.71 183375 chrX 49028393 49028393 T G PLP2 Nonsynonymous SNV C16G 0.002 0 0 2 2 0 0.005 0 1 0 0 1 23.7 183376 chr17 7803964 7803964 C T CHD3 Synonymous SNV L1024L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.07 183377 chr16 31371369 31371369 C G rs75652952 ITGAX Synonymous SNV T230T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.483 183378 chr14 34269952 34269952 G A rs770246585 NPAS3 Synonymous SNV L783L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.635 183379 chr14 35062258 35062258 G C SNX6 Synonymous SNV S200S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.43 183380 chr12 57860075 57860075 G A rs368789621 GLI1 Stop gain W144X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 183381 chr3 172224522 172224522 G A rs150822199 TNFSF10 Synonymous SNV N202N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.06 183382 chr16 4033246 4033246 C T ADCY9 Nonsynonymous SNV A836T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 183383 chr3 179689390 179689390 G A rs775150381 PEX5L Stop gain Q29X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 183384 chr14 45542517 45542517 A T TOGARAM1 Nonsynonymous SNV Y1639F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 183385 chr2 234737704 234737704 A T rs960904483 MROH2A Nonsynonymous SNV I1480F 0.003 0 0 0 3 0 0 0 0 0 0 0 6.05 183386 chr3 184008979 184008979 G A rs114388448 ECE2, EEF1AKMT4-ECE2 Synonymous SNV E633E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.087 183387 chr16 50841491 50841491 C G LINC02168 0 0 0.007 0 0 0 0 2 0 0 0 0 4.081 183388 chr3 185390352 185390352 C G IGF2BP2 Nonsynonymous SNV A257P 0.001 0 0 0 1 0 0 0 0 0 0 0 21 183389 chr17 80369330 80369330 C T rs150938774 OGFOD3 0.003 0 0 0 4 0 0 0 0 0 0 0 25.5 183390 chr11 28311839 28311839 G T rs773366749 METTL15 Nonsynonymous SNV G165V 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 183391 chr2 241705170 241705170 G A rs772063378 KIF1A Synonymous SNV Y566Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 183392 chr4 74277723 74277723 C T rs754953092 ALB Nonsynonymous SNV R242C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.9 183393 chr12 8991788 8991788 T C rs201247776 A2ML1 Synonymous SNV F350F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 4.779 183394 chr15 50905990 50905990 G C rs771802089 TRPM7 Nonsynonymous SNV H562D 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 183395 chr14 64685985 64685985 A G rs749324902 SYNE2 Nonsynonymous SNV K81E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 183396 chr15 51828622 51828622 T G rs141558477 DMXL2 Synonymous SNV S685S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 7.561 183397 chr11 44073205 44073205 G A ACCSL Synonymous SNV V236V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 183398 chr15 57484486 57484486 C T rs142903330 TCF12 Nonsynonymous SNV A174V 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 23.5 183399 chr13 101167819 101167819 G A rs201570489 PCCA Nonsynonymous SNV A606T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 183400 chr16 77770618 77770618 C T rs192210609 NUDT7 Synonymous SNV A140A 0.006 0.008 0.02 2 7 3 0.005 6 0 0 0 0 3.228 183401 chr16 77775676 77775676 C T rs147681538 NUDT7 Synonymous SNV D129D 0.006 0.008 0.02 2 7 3 0.005 6 0 0 0 0 11.97 183402 chr16 81094937 81094937 G - C16orf46 F339Lfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 183403 chr16 81094938 81094938 A T C16orf46 Nonsynonymous SNV F339Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 183404 chr14 75265874 75265874 C T rs768596294 YLPM1 Nonsynonymous SNV R1292W 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 31 183405 chr4 95497070 95497070 A G PDLIM5 Nonsynonymous SNV T77A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.75 183406 chr3 19975509 19975509 A G rs752578107 EFHB Star tloss M1? 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.871 183407 chr15 64215080 64215080 T C DAPK2 Nonsynonymous SNV I441V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 183408 chr16 83813758 83813758 C G CDH13 Nonsynonymous SNV H584D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 183409 chr16 84035944 84035944 G A rs199676132 NECAB2 Nonsynonymous SNV R367Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 183410 chr12 112589815 112589815 G A rs200338185 TRAFD1 Nonsynonymous SNV R497Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 183411 chr4 100443754 100443754 G A rs371652295 C4orf17 Synonymous SNV R75R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.326 183412 chr15 65273338 65273338 T A rs746781312 SPG21 Nonsynonymous SNV K30M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 183413 chr16 84212860 84212860 A G rs138178776 TAF1C Nonsynonymous SNV V434A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.02 183414 chr4 100570455 100570455 G C rs772299627 C4orf54 Nonsynonymous SNV T1784S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 183415 chr4 3257515 3257515 G A rs1017824982 MSANTD1 Synonymous SNV L220L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.457 183416 chr4 4247938 4247938 T C rs13135886 TMEM128 Nonsynonymous SNV H77R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.41 183417 chr15 65703443 65703443 C T rs370912770 IGDCC4 Synonymous SNV V112V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.58 183418 chr12 113559345 113559345 G T RASAL1 Nonsynonymous SNV R133S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.738 183419 chr15 67528353 67528353 C T rs138601241 AAGAB Nonsynonymous SNV V30I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 183420 chr18 44159643 44159643 G A rs540100675 LOXHD1 Nonsynonymous SNV R587W 0.013 0.003 0 3 15 1 0.008 0 0 0 0 0 Uncertain significance 33 183421 chr14 89038502 89038502 G A rs764192496 ZC3H14 Nonsynonymous SNV A122T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.779 183422 chr16 86370992 86370992 T A LINC00917 0 0 0.007 0 0 0 0 2 0 0 1 0 2.033 183423 chr12 118199248 118199248 G A rs762240593 KSR2 Nonsynonymous SNV P185L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.75 183424 chr12 119966452 119966452 G A rs199921208 CCDC60 Nonsynonymous SNV R421H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.649 183425 chr14 93652806 93652806 A G rs186551483 TMEM251 Synonymous SNV Q94Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.325 183426 chr16 88505063 88505063 G A rs273585629 ZNF469 Nonsynonymous SNV G3729S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Pathogenic 12.13 183427 chr13 26620780 26620780 C T SHISA2 Synonymous SNV Q253Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.447 183428 chr15 77473898 77473900 TCA - rs751091499 PEAK1 D123del 0.001 0 0 0 1 0 0 0 0 0 0 0 183429 chr15 78825825 78825825 G T rs61741253 HYKK Nonsynonymous SNV R312L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 34 183430 chr16 89986455 89986455 C T rs781382183 MC1R Synonymous SNV L263L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.396 183431 chr18 64211217 64211217 G T rs149735488 CDH19 Nonsynonymous SNV S402Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 183432 chr12 125834697 125834697 A T rs61735212 TMEM132B Nonsynonymous SNV Q256L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.002 183433 chr17 10357065 10357065 C T MYH4 Synonymous SNV K943K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.315 183434 chr13 33110900 33110900 T C rs750023236 N4BP2L2 Nonsynonymous SNV N89D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 183435 chr10 19613027 19613027 C T rs559660930 MALRD1 Nonsynonymous SNV S1190F 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 26.2 183436 chr15 85164049 85164049 A G rs151264960 ZSCAN2 Nonsynonymous SNV Q208R 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 12.63 183437 chr15 85384001 85384001 G A ALPK3 Synonymous SNV K497K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.395 183438 chr12 132269744 132269744 T - SFSWAP F846Lfs*38 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 183439 chr3 47163618 47163618 A C rs142668029 SETD2 Nonsynonymous SNV C792W 0.002 0 0 0 2 0 0 0 0 0 0 0 15.84 183440 chr12 133102325 133102325 G C FBRSL1 Nonsynonymous SNV K165N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.9 183441 chr17 1636933 1636933 C T rs140513521 WDR81 Synonymous SNV T331T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.415 183442 chr13 44464322 44464322 A G rs201502063 LACC1 Synonymous SNV T402T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.642 183443 chr11 5530546 5530546 C T UBQLN3 Synonymous SNV V81V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.891 183444 chr3 48820448 48820448 A G rs772674401 PRKAR2A Synonymous SNV D143D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 183445 chr11 55406203 55406203 A T rs775498496 OR4P4 Nonsynonymous SNV I124F 0.006 0.003 0 0 7 1 0 0 1 0 0 0 23.8 183446 chr13 47409049 47409049 C T rs201018904 HTR2A Nonsynonymous SNV A363T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.833 183447 chr3 50329659 50329659 C T rs369636527 IFRD2 Nonsynonymous SNV R80H 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 29.9 183448 chr13 49085972 49085972 G A rs746580633 RCBTB2 Nonsynonymous SNV S13L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 183449 chr3 50338473 50338473 G A rs375213606 HYAL1 Synonymous SNV A312A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.05 183450 chr15 39882107 39882107 C T rs59272325 THBS1 Synonymous SNV C676C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 183451 chr17 19559770 19559770 C T rs115977487 ALDH3A2 Nonsynonymous SNV A188V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.55 183452 chr15 40727856 40727856 A C rs914027311 IVD Nonsynonymous SNV K460T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 183453 chr15 90347555 90347555 C T rs147889608 ANPEP Nonsynonymous SNV D370N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 183454 chr15 40902490 40902490 T C rs79413475 KNL1 Nonsynonymous SNV M82T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 15.64 183455 chr17 21081636 21081636 C T rs116227155 DHRS7B Nonsynonymous SNV T82I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.915 183456 chr15 41062758 41062758 G A rs186113485 C15orf62 Nonsynonymous SNV R22Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 183457 chr15 41188224 41188224 T G rs762322331 VPS18 Synonymous SNV L60L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.823 183458 chr4 186112296 186112296 T C CFAP97 Nonsynonymous SNV S19G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 183459 chr4 65274891 65274891 A T TECRL Nonsynonymous SNV F60Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 183460 chr16 10524907 10524907 G A rs771575139 ATF7IP2 Nonsynonymous SNV D144N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 183461 chr4 187179365 187179365 G A rs766672621 KLKB1 Synonymous SNV X639X 0.001 0 0 0 1 0 0 0 0 0 0 0 8.875 183462 chr16 10788316 10788316 G A rs759192148 TEKT5 Nonsynonymous SNV R139W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 183463 chr13 96508490 96508490 A G rs35944089 UGGT2 Synonymous SNV I1310I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.003 183464 chr13 96684203 96684203 T C rs367679687 UGGT2 Nonsynonymous SNV N61D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 183465 chr4 187549504 187549504 A G rs368005557 FAT1 Synonymous SNV D1538D 0.003 0 0 0 4 0 0 0 0 0 0 0 4.071 183466 chr15 42436227 42436227 T C PLA2G4F Synonymous SNV R697R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.653 183467 chr12 305332 305332 G A rs147755328 SLC6A12 Synonymous SNV I428I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.218 183468 chr15 43502567 43502567 T C rs758323919 EPB42 Nonsynonymous SNV Q237R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.8 183469 chr15 43502635 43502635 G A rs768899304 EPB42 Synonymous SNV F214F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.908 183470 chr5 163656 163656 G A rs140454618 PLEKHG4B Nonsynonymous SNV V1157M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 183471 chr14 101348671 101348671 A G RTL1 Nonsynonymous SNV Y819H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 183472 chr17 27009776 27009776 C T rs146677116 SUPT6H Synonymous SNV P543P 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 15.33 183473 chr17 27086626 27086626 G A rs369509726 FAM222B Synonymous SNV D117D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.342 183474 chr19 11221389 11221389 C T rs762853526 LDLR Synonymous SNV I166I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.85 183475 chr16 1262108 1262108 C T rs748925694 CACNA1H Nonsynonymous SNV R1577W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 183476 chr12 40916444 40916444 G C rs753884297 MUC19 0 0.005 0 0 0 2 0 0 0 0 0 0 8.465 183477 chr5 5303555 5303555 T C rs143662573 ADAMTS16 Synonymous SNV P988P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 183478 chr16 16244553 16244553 T C ABCC6 Nonsynonymous SNV T1429A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 183479 chr17 33513400 33513400 A G UNC45B Nonsynonymous SNV Y792C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 183480 chr12 4853790 4853790 C T rs138133023 GALNT8 Nonsynonymous SNV R262C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 183481 chr3 98216769 98216769 T C rs748067787 OR5K2 Nonsynonymous SNV L82S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 183482 chr10 61005211 61005211 - AAGT PHYHIPL Frameshift insertion I307Sfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 183483 chr5 13841099 13841099 C T DNAH5 Synonymous SNV T1875T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 183484 chr11 57076358 57076358 A C TNKS1BP1 Nonsynonymous SNV V1276G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 183485 chr3 100494075 100494075 C G rs141302553 ABI3BP Nonsynonymous SNV V769L 0.002 0.008 0.014 2 2 3 0.005 4 0 0 0 0 23.1 183486 chr16 1841785 1841785 C T rs368097770 IGFALS Nonsynonymous SNV A250T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.721 183487 chr10 62021659 62021659 C T rs117266082 ANK3 Synonymous SNV T235T 0.006 0.003 0 2 7 1 0.005 0 1 0 0 0 Benign 12.87 183488 chr16 1842257 1842257 A G rs911520855 IGFALS Synonymous SNV D92D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.024 183489 chr15 55731734 55731734 T C rs144616491 DNAAF4 Nonsynonymous SNV I277V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.633 183490 chr17 34233786 34233786 G A rs9912571 LRRC37A8P 0 0 0.007 0 0 0 0 2 0 0 1 0 6.211 183491 chr3 107096962 107096962 A G CCDC54 Synonymous SNV P176P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.054 183492 chr17 34308444 34308444 C T rs142115594 CCL16 Nonsynonymous SNV E5K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.449 183493 chr4 90857547 90857547 T C rs41279301 MMRN1 Synonymous SNV L906L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 0.003 183494 chr12 50149479 50149480 AT - TMBIM6 H134Qfs*3 0 0.005 0 0 0 2 0 0 0 0 0 0 183495 chr14 20849545 20849545 G A rs773422112 TEP1 Nonsynonymous SNV T1417I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.323 183496 chr16 21212697 21212697 C T rs149764747 ZP2 Nonsynonymous SNV V554M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.67 183497 chr3 113379255 113379255 G A USF3 Nonsynonymous SNV S425L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 183498 chr15 64692975 64692975 C T rs756359639 TRIP4 Nonsynonymous SNV R218C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 183499 chr12 51754613 51754613 C T rs147006309 GALNT6 Synonymous SNV T353T 0 0.005 0 0 0 2 0 0 0 0 0 0 19.48 183500 chr3 115395378 115395378 C T rs146887490 GAP43 Synonymous SNV A183A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.8 183501 chr17 3850766 3850766 G A rs377061950 ATP2A3 Synonymous SNV S338S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 183502 chr17 38552665 38552665 C T rs1804537 TOP2A Nonsynonymous SNV G1197E 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Likely benign 7.434 183503 chr19 15975667 15975667 G A CLEC4O Stop gain Q11X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.02 183504 chr17 38928196 38928196 C T rs201674532 KRT26 Nonsynonymous SNV C57Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.071 183505 chr17 38978713 38978713 G A rs142050024 KRT10 Nonsynonymous SNV S42F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 183506 chr16 28950258 28950258 C T CD19 Nonsynonymous SNV R550C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 183507 chr17 3917717 3917717 G A rs145253189 ZZEF1 Synonymous SNV S2746S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 183508 chr16 29814840 29814840 A G rs780229631 KIF22 Nonsynonymous SNV H439R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 183509 chr15 68661527 68661527 T C ITGA11 Nonsynonymous SNV N87S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 183510 chr15 69560954 69560954 A G GLCE Nonsynonymous SNV S152G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.98 183511 chr15 71184327 71184327 C T rs147831240 THAP10 Synonymous SNV P95P 0.003 0 0 0 4 0 0 0 0 0 0 0 12.68 183512 chr5 59893651 59893651 G A rs780761454 DEPDC1B Nonsynonymous SNV P445S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 183513 chr5 64103424 64103424 - GC rs551560409 CWC27 0.003 0 0 0 3 0 0 0 0 0 0 0 183514 chr19 1788975 1788975 A G rs199969503 ATP8B3 Nonsynonymous SNV L960P 0.002 0 0 0 2 0 0 0 0 0 0 0 31 183515 chr12 53499701 53499701 G A rs147720890 SOAT2 Nonsynonymous SNV E116K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 183516 chr14 23848250 23848250 G A rs144001616 CMTM5 Nonsynonymous SNV R46H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 183517 chr15 74884132 74884132 T C rs375176479 ARID3B Nonsynonymous SNV M466T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.01 183518 chr10 87489273 87489273 G T rs146469258 GRID1 Synonymous SNV V444V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.1 183519 chr10 90674401 90674401 C T rs546364856 STAMBPL1 Nonsynonymous SNV L297F 0 0 0 1 0 0 0.003 0 0 0 0 0 31 183520 chr3 127399246 127399246 C T rs372495700 ABTB1 Synonymous SNV S313S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.27 183521 chr17 40720866 40720866 A G rs374345141 MLX Nonsynonymous SNV S31G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 183522 chr16 3900716 3900716 T A CREBBP Nonsynonymous SNV D127V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 183523 chr17 40843525 40843525 C A rs141352323 CNTNAP1 Synonymous SNV G780G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 17.2 183524 chr17 40848165 40848165 A G rs374577901 CNTNAP1 Nonsynonymous SNV I1157V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 183525 chr17 40946808 40946808 C A rs56227191 WNK4 Nonsynonymous SNV T454N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.003 183526 chr17 41958115 41958115 C T rs747067215 MPP2 Nonsynonymous SNV S354N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 183527 chr5 74930727 74930727 G A rs200319009 ANKDD1B Nonsynonymous SNV G202E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 183528 chr14 31637571 31637571 T C rs772948905 HECTD1 Nonsynonymous SNV I519V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.56 183529 chr5 76326650 76326650 C T rs147102910 AGGF1 Nonsynonymous SNV P20L 0.002 0 0 0 2 0 0 0 0 0 0 0 24 183530 chr14 36943072 36943072 A G rs200105653 SFTA3 0.002 0.01 0 0 2 4 0 0 0 0 0 0 13.88 183531 chr14 36988763 36988763 T G rs561607086 NKX2-1-AS1 0.002 0.008 0 0 2 3 0 0 0 0 0 0 13.54 183532 chr19 23545319 23545319 A G ZNF91 Synonymous SNV F122F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.156 183533 chr16 4933446 4933446 C T rs138719513 PPL Nonsynonymous SNV R1737H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 183534 chr3 135801154 135801154 T C rs138442457 PPP2R3A Synonymous SNV D157D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.379 183535 chr3 135870731 135870731 G C rs139959327 MSL2 Nonsynonymous SNV A257G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 183536 chr17 47587809 47587809 C A NGFR Nonsynonymous SNV P202T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.358 183537 chr14 51448656 51448656 T C rs200221592 TRIM9 Nonsynonymous SNV N590S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 183538 chr4 185320175 185320175 C T rs150575776 IRF2 Synonymous SNV P196P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 183539 chr16 58073915 58073915 A G rs139344353 MMP15 Nonsynonymous SNV K193E 0.005 0 0 0 6 0 0 0 0 0 0 0 13.72 183540 chr17 4937309 4937309 A G SLC52A1 Nonsynonymous SNV C159R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 183541 chr12 665955 665955 G A rs11063570 B4GALNT3 Nonsynonymous SNV R768Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.348 183542 chr17 505105 505105 T C rs79657649 VPS53 Nonsynonymous SNV N354S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.1 183543 chr5 96139576 96139576 G A rs144373640 ERAP1 Synonymous SNV S18S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 2.606 183544 chr19 35769960 35769960 G A USF2 Nonsynonymous SNV E181K 0.004 0 0.007 0 5 0 0 2 0 0 0 0 29 183545 chr11 6579116 6579116 G A rs769765609 DNHD1 Nonsynonymous SNV R2864Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.423 183546 chr16 67208182 67208182 G C rs777348689 NOL3 Nonsynonymous SNV R37P 0.004 0 0 0 5 0 0 0 0 0 0 0 26.2 183547 chr17 54968700 54968700 T C rs533715139 MIR3614 0 0 0.003 0 0 0 0 1 0 0 0 0 6.915 183548 chr3 167742346 167742346 C T rs145555095 GOLIM4 Nonsynonymous SNV D582N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 183549 chr5 112899752 112899752 G A rs143148329 YTHDC2 Nonsynonymous SNV R580H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 183550 chr16 71957216 71957216 G C rs150346332 IST1 Nonsynonymous SNV G114A 0.004 0 0 0 5 0 0 0 0 0 0 0 18.78 183551 chr5 118469400 118469400 C T rs201588645 DMXL1 Nonsynonymous SNV T594M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 183552 chr16 1034885 1034885 C T rs144569380 SOX8 Synonymous SNV F280F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.84 183553 chr16 75646443 75646443 G C rs747369829 ADAT1 Synonymous SNV A160A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.189 183554 chr12 83251100 83251100 C G TMTC2 Nonsynonymous SNV A132G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 183555 chr16 79245582 79245582 C T rs201088847 WWOX Synonymous SNV N265N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 13.63 183556 chr19 38384059 38384059 G A rs758820265 WDR87 Nonsynonymous SNV R762C 0.002 0 0 0 2 0 0 0 0 0 0 0 1.005 183557 chr5 26915803 26915803 T A CDH9 Nonsynonymous SNV N153I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 183558 chr11 10790026 10790026 C T rs140813178 CTR9 Synonymous SNV S699S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.7 183559 chr5 134670710 134670710 T C MACROH2A1 Nonsynonymous SNV I358V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 183560 chr11 73718025 73718025 G C rs181883754 UCP3 Synonymous SNV G21G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.802 183561 chr11 1086393 1086393 C T rs200179172 MUC2 Synonymous SNV P1034P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 183562 chr11 74345739 74345739 A C rs181857010 POLD3 Nonsynonymous SNV K334T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.04 183563 chr16 15814819 15814819 T G rs148275462 MYH11 Nonsynonymous SNV Q1556H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 24.4 183564 chr19 39406706 39406706 C T rs772617303 SARS2 Nonsynonymous SNV E440K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 183565 chr17 7189033 7189033 C T rs750521517 SLC2A4 Nonsynonymous SNV P378S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.74 183566 chr11 117389160 117389160 T C DSCAML1 Nonsynonymous SNV I375V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.83 183567 chr17 72744805 72744805 C T rs112977728 MIR3615 0 0 0.003 0 0 0 0 1 0 0 0 0 8.513 183568 chr17 72838738 72838738 C G rs115230539 GRIN2C Nonsynonymous SNV G1180R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 183569 chr17 72848460 72848460 G A rs114825783 GRIN2C Synonymous SNV R230R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 183570 chr5 140580080 140580080 G A rs782212538 PCDHB11 Nonsynonymous SNV A245T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 183571 chr3 196434746 196434746 C T rs116167439 CEP19 Synonymous SNV P56P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 12.29 183572 chr17 72916507 72916507 C T rs111033466 USH1G Nonsynonymous SNV E39K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23 183573 chr17 72916543 72916543 T C rs111033465 USH1G Nonsynonymous SNV K27E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.23 183574 chr17 72927017 72927017 G A rs61731429 OTOP2 Synonymous SNV P429P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 183575 chr16 2070223 2070223 G A rs372504298 NPW Synonymous SNV Q107Q 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 1.148 183576 chr17 73127306 73127306 T A NT5C Nonsynonymous SNV D82V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 183577 chr17 73227962 73227962 C T rs764046531 NUP85 Synonymous SNV P382P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 183578 chr16 88502513 88502513 G A ZNF469 Nonsynonymous SNV G2879R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 183579 chr17 73515105 73515105 T C rs776906044 TSEN54 Synonymous SNV Y166Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.62 183580 chr13 114469206 114469206 T C rs532104190 TMEM255B Synonymous SNV V55V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.02 183581 chr13 21237654 21237654 C T rs748181737 IFT88 Nonsynonymous SNV R648C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 183582 chr11 122666975 122666975 G C rs752965204 UBASH3B Nonsynonymous SNV D374H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 33 183583 chr15 101109644 101109644 G A LINS1 Synonymous SNV F691F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.096 183584 chr16 28507391 28507417 GGAGGCTGGGACAGCCTCAGGAGGGGA - rs749563544 APOBR E361_G369del 0.001 0 0 0 1 0 0 0 0 0 0 0 183585 chr17 75878566 75878566 A G rs144416976 LINC01973 0 0 0.014 0 0 0 0 4 0 0 0 0 2.358 183586 chr17 76118828 76118828 A G TMC6 Nonsynonymous SNV M362T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 183587 chr16 28944733 28944733 G A rs142412075 CD19 Synonymous SNV L246L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.627 183588 chr19 44611355 44611355 G A ZNF224 Nonsynonymous SNV E348K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 183589 chr17 76503397 76503397 G A rs61737666 DNAH17 Nonsynonymous SNV P1547S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 183590 chr16 89702331 89702331 C T rs145919154 DPEP1 Synonymous SNV P40P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.486 183591 chr16 89764190 89764190 C T rs11541226 SPATA2L Nonsynonymous SNV R276Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.424 183592 chr16 89986318 89986318 G A rs200965363 MC1R Nonsynonymous SNV A218T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 183593 chr17 7751380 7751380 C G rs760448220 KDM6B Nonsynonymous SNV Q592E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.074 183594 chr13 36700179 36700179 G A rs200714460 DCLK1 Synonymous SNV S32S 0 0.005 0 2 0 2 0.005 0 0 0 0 0 10.59 183595 chr17 11461483 11461483 C T rs148413919 SHISA6 Synonymous SNV Y455Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 183596 chr17 78914365 78914365 C T rs201400170 RPTOR Nonsynonymous SNV R839C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 24 183597 chr17 79994494 79994494 C T rs375837859 DCXR Nonsynonymous SNV R123Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 183598 chr13 51929266 51929270 GAAAG - SERPINE3 K330Nfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 183599 chr4 25759180 25759180 C T rs747794153 SEL1L3 Nonsynonymous SNV V1044M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 183600 chr19 47883082 47883082 C A rs139543869 DHX34 Nonsynonymous SNV A941E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.12 183601 chr17 18067137 18067137 G A rs79745502 MYO15A Nonsynonymous SNV V3258I 0.006 0 0 0 7 0 0 0 0 0 0 0 Uncertain significance 18.95 183602 chr15 43621419 43621419 T C rs376438072 LCMT2 Synonymous SNV T423T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.052 183603 chr11 17634183 17634183 C T OTOG Synonymous SNV F2115F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.69 183604 chr4 39328253 39328253 T C rs779100462 RFC1 Nonsynonymous SNV Q191R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.771 183605 chr15 43821530 43821530 G A rs779489817 MAP1A Nonsynonymous SNV R2620Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 183606 chr12 114395805 114395805 T C rs150685892 RBM19 Nonsynonymous SNV M208V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 183607 chr12 117157656 117157656 T C rs114256458 C12orf49 Nonsynonymous SNV N46S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 6.109 183608 chr18 12493168 12493168 T A rs367609783 SPIRE1 Synonymous SNV P364P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.05 183609 chr5 135223762 135223762 C T rs202001446 SLC25A48 Nonsynonymous SNV L155F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.832 183610 chr15 49301471 49301471 T C rs528546517 SECISBP2L Nonsynonymous SNV I612V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 183611 chr18 21447872 21447872 C G LAMA3 Nonsynonymous SNV H1586Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 183612 chr17 21319346 21319346 A G KCNJ12, KCNJ18 Nonsynonymous SNV Q231R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 183613 chr18 28609519 28609519 T C rs377721860 DSC3 Nonsynonymous SNV M144V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 183614 chr5 179318474 179318474 G A rs144413288 TBC1D9B Synonymous SNV L317L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.441 183615 chr5 140056323 140056323 G A rs761267344 HARS1 Synonymous SNV F256F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.211 183616 chr5 140175887 140175887 C G rs782602329 PCDHA2 Synonymous SNV A446A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 183617 chr11 285188 285188 G A rs138624921 NLRP6 Nonsynonymous SNV E854K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.493 183618 chr5 141052986 141052986 C T rs150744263 ARAP3 Nonsynonymous SNV M318I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 24.8 183619 chr17 30315387 30315387 A G rs775679142 SUZ12 Nonsynonymous SNV T335A 0.003 0 0 0 4 0 0 0 0 0 0 0 14.74 183620 chr17 30648052 30648052 T C rs138067344 RHBDL3 Nonsynonymous SNV F279S 0.003 0 0 0 4 0 0 0 0 0 0 0 29.4 183621 chr4 77661550 77661550 C T rs185414016 SHROOM3 Nonsynonymous SNV P742S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.107 183622 chr6 15452316 15452316 C G JARID2 Nonsynonymous SNV P135A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 183623 chr6 15497337 15497337 G A rs979337725 JARID2 Synonymous SNV R455R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.301 183624 chr12 133218406 133218406 G A rs778829972 POLE Synonymous SNV A1735A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.02 183625 chr4 85654691 85654691 C G WDFY3 Synonymous SNV R2355R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 183626 chr16 80718728 80718728 C T rs151165278 CDYL2 Nonsynonymous SNV R108Q 0.004 0.008 0 0 5 3 0 0 0 0 0 0 24 183627 chr15 72668306 72668306 C G rs374524755 HEXA Nonsynonymous SNV S3T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 15.35 183628 chr6 25600616 25600616 G A rs201222475 CARMIL1 Nonsynonymous SNV R1065Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 183629 chr5 150696639 150696639 G A rs149847490 SLC36A2 Synonymous SNV A397A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 4.944 183630 chr16 82101899 82101899 G A rs34731990 HSD17B2 Synonymous SNV P130P 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 Benign 7.059 183631 chr19 53116334 53116334 C T rs373627688 ZNF83 Nonsynonymous SNV R495H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.561 183632 chr15 77325228 77325228 C A rs763986763 PSTPIP1 Stop gain Y288X 0.003 0 0 0 4 0 0 0 0 0 0 0 35 183633 chr11 48134329 48134329 C A rs757532542 PTPRJ Nonsynonymous SNV A49E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.686 183634 chr15 78473101 78473101 C T rs200646960 ACSBG1 Nonsynonymous SNV G413S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 183635 chr14 31576414 31576414 T G rs201419755 HECTD1 Synonymous SNV R2222R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.431 183636 chr19 53453290 53453290 G A ZNF816 Nonsynonymous SNV L580F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.86 183637 chr12 27933923 27933923 C T rs146472087 KLHL42 Synonymous SNV L220L 0.003 0 0.007 0 4 0 0 2 0 0 0 0 14.55 183638 chr18 74620329 74620329 A G rs200474825 ZNF236 Nonsynonymous SNV D784G 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 5.374 183639 chr12 31613214 31613214 G A rs138735047 DENND5B Nonsynonymous SNV H159Y 0.003 0.008 0 0 4 3 0 0 0 0 0 0 20.6 183640 chr18 77193627 77193627 G A rs138150995 NFATC1 Synonymous SNV P425P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 183641 chr12 333245 333245 G A rs16928571 SLC6A13 Synonymous SNV H316H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 2.25 183642 chr18 77894486 77894486 G A rs146869728 ADNP2 Nonsynonymous SNV R397H 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 21.6 183643 chr12 40728942 40728942 C T rs201119482 LRRK2 Synonymous SNV H1977H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.03 183644 chr18 9124912 9124912 T C rs201074358 NDUFV2 Synonymous SNV T170T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.68 183645 chr6 41002774 41002774 G C rs778037261 UNC5CL Nonsynonymous SNV L14V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 183646 chr15 89424919 89424919 G C HAPLN3 Synonymous SNV P54P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.56 183647 chr19 10291078 10291078 G T DNMT1 Synonymous SNV P131P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.3 183648 chr19 10291529 10291529 G A rs146112081 DNMT1 Synonymous SNV H50H 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.32 183649 chr5 177681983 177681983 G A rs376718430 COL23A1 Synonymous SNV I309I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 183650 chr5 178040574 178040574 C T rs765407044 CLK4 Synonymous SNV L242L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 183651 chr14 58831900 58831900 T C rs766154468 ARID4A Synonymous SNV S1031S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.881 183652 chr4 154335946 154335946 G A MND1 Synonymous SNV G185G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.82 183653 chr4 154512273 154512274 TC - TMEM131L L582Afs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 183654 chr19 11323910 11323910 C T rs776844030 DOCK6 Nonsynonymous SNV R1478H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 183655 chr19 11363177 11363177 A G rs369962295 DOCK6 Nonsynonymous SNV W120R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 183656 chr4 155411858 155411858 G T rs17031722 DCHS2 Nonsynonymous SNV A217E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.005 183657 chr6 49704200 49704200 C T rs147221814 CRISP3 Synonymous SNV L54L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.11 183658 chr19 13041442 13041442 G A rs33925420 FARSA Nonsynonymous SNV A90V 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 16.03 183659 chr14 71443804 71443804 T A rs748255561 PCNX1 Nonsynonymous SNV H250Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 183660 chr6 55638980 55638980 T G rs80225326 BMP5 Nonsynonymous SNV Q298H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 183661 chr14 73440894 73440894 G A rs189918765 ZFYVE1 Synonymous SNV T250T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.553 183662 chr6 56374616 56374616 A T rs374875756 DST Nonsynonymous SNV L3656Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 183663 chr4 169383037 169383037 G A rs548469816 DDX60L Nonsynonymous SNV P140L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 183664 chr14 73735342 73735342 G A rs149824595 PAPLN Nonsynonymous SNV R1193Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.055 183665 chr17 48186743 48186743 C T rs139504451 PDK2 Synonymous SNV T290T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.94 183666 chr17 17041478 17041478 A G MPRIP Nonsynonymous SNV I361V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.34 183667 chr14 73978767 73978767 T C rs369061780 HEATR4 Nonsynonymous SNV T501A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.29 183668 chr14 73980823 73980825 CTT - rs779224842 HEATR4 K442del 0 0.003 0 0 0 1 0 0 0 0 0 0 183669 chr19 15224654 15224654 C T rs148620950 SYDE1 Synonymous SNV T629T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 183670 chr19 15233965 15233965 T C rs34305974 ILVBL Nonsynonymous SNV I143V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.001 183671 chr19 15789125 15789125 T C rs140893357 CYP4F12 Nonsynonymous SNV S85P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183672 chr19 15791066 15791066 C T rs61731193 CYP4F12 Nonsynonymous SNV P119L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.784 183673 chr19 15791074 15791074 A G rs114254919 CYP4F12 Nonsynonymous SNV N122D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183674 chr19 15791081 15791081 T C rs146740964 CYP4F12 Nonsynonymous SNV F124S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 183675 chr19 15791203 15791203 A G rs140731978 CYP4F12 Synonymous SNV G133G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.341 183676 chr19 15791206 15791206 A T rs145798366 CYP4F12 Nonsynonymous SNV E134D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183677 chr19 15791210 15791210 A C rs138713818 CYP4F12 Nonsynonymous SNV I136L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183678 chr19 15791212 15791212 A C rs61731188 CYP4F12 Synonymous SNV I136I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183679 chr4 186334977 186334977 C A rs768147237 UFSP2 Nonsynonymous SNV R245M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 183680 chr19 15793238 15793238 C T rs144258147 CYP4F12 Synonymous SNV L189L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 183681 chr19 15793282 15793282 A G rs35352350 CYP4F12 Synonymous SNV L203L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.855 183682 chr16 15831395 15831395 G A rs140143700 MYH11 Synonymous SNV H1068H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.56 183683 chr19 15794411 15794411 C T rs61731191 CYP4F12 Synonymous SNV D252D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.428 183684 chr19 15794423 15794423 C T rs114945576 CYP4F12 Synonymous SNV F256F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.608 183685 chr19 15794425 15794425 A G rs116788636 CYP4F12 Nonsynonymous SNV H257R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183686 chr19 15794447 15794447 T C rs58642948 CYP4F12 Synonymous SNV H264H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 183687 chr19 15794463 15794463 G C rs57578760 CYP4F12 Nonsynonymous SNV V270L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 183688 chr19 15794470 15794470 G A rs150943202 CYP4F12 Nonsynonymous SNV R272Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.247 183689 chr19 15795939 15795939 A G rs61729075 CYP4F12 Synonymous SNV E349E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.094 183690 chr6 83881667 83881667 G T rs201593125 PGM3 Nonsynonymous SNV L371I 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 18.71 183691 chr6 24472814 24472814 G A rs62400471 GPLD1 Nonsynonymous SNV R181C 0.003 0 0 0 4 0 0 0 0 0 0 0 34 183692 chr17 56281697 56281703 CATCTTC - EPX D687Efs*11 0.001 0.003 0 0 1 1 0 0 0 0 0 0 183693 chr5 163655 163655 G C PLEKHG4B Nonsynonymous SNV Q1156H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.359 183694 chr11 56230571 56230571 T C rs774176482 OR5M9 Nonsynonymous SNV I103V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.039 183695 chr5 1038317 1038317 A G NKD2 Synonymous SNV P395P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.01 183696 chr6 26056057 26056057 G T H1-2 Synonymous SNV P200P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.813 183697 chr6 90577532 90577532 G C rs776226020 CASP8AP2 Nonsynonymous SNV C1508S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 183698 chr12 56873607 56873607 C G rs746232927 GLS2 Nonsynonymous SNV E121Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.87 183699 chr5 1409870 1409870 G A rs370907238 SLC6A3 Nonsynonymous SNV A455V 0.003 0 0 0 3 0 0 0 0 0 0 0 14.83 183700 chr17 2233884 2233884 G T TSR1 Synonymous SNV V565V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.653 183701 chr6 26444501 26444501 C T rs777205289 BTN3A3 Synonymous SNV Y92Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 183702 chr12 57926791 57926791 T G rs2292656 DCTN2 Synonymous SNV A252A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.23 183703 chr12 58010132 58010132 G A rs79529064 ARHGEF25 Nonsynonymous SNV G466R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 183704 chr16 23498056 23498056 C T rs549649016 GGA2 Nonsynonymous SNV R212Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 183705 chr19 7734735 7734735 G - rs745808740 RETN E50Sfs*85 0.001 0 0 1 1 0 0.003 0 0 0 0 0 183706 chr17 62512909 62512909 G A CEP95 Nonsynonymous SNV E146K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 183707 chr12 6061684 6061684 C G rs149834874 VWF Nonsynonymous SNV R2663P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 183708 chr17 2868831 2868831 T C LOC101927911 0.001 0 0 0 1 0 0 0 0 0 0 0 7.245 183709 chr6 112469498 112469498 G A rs782058486 LAMA4 Synonymous SNV T738T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.118 183710 chr16 28913195 28913195 C T rs751104390 ATP2A1 Synonymous SNV G579G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.52 183711 chr17 31324781 31324781 T C rs28956 SPACA3 Synonymous SNV D108D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 6.783 183712 chr19 19465214 19465214 G A rs779177122 MAU2 Synonymous SNV P533P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 183713 chr16 30000952 30000952 G A rs769501718 TAOK2 Synonymous SNV T757T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.82 183714 chr12 6627110 6627110 C T rs771633449 NCAPD2 Nonsynonymous SNV A525V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 183715 chr11 587372 587372 A G rs151190592 PHRF1 Nonsynonymous SNV I110V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 183716 chr15 102358483 102358485 TTG - rs758665559 OR4F15 L33del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 183717 chr6 119243238 119243238 G C rs141704109 MCM9 Nonsynonymous SNV S212C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 183718 chr17 34858968 34858968 G A rs544430313 MYO19 Synonymous SNV P483P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.949 183719 chr17 72248408 72248408 C T rs749016289 TTYH2 Synonymous SNV D63D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 183720 chr12 7249757 7249757 A G C1RL Nonsynonymous SNV C190R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 183721 chr19 2737061 2737061 G A rs138634271 SLC39A3 Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.424 183722 chr17 72353765 72353765 G A rs532163255 BTBD17 Synonymous SNV D156D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.028 183723 chr6 43515415 43515415 G A rs202182348 XPO5 Nonsynonymous SNV A697V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 183724 chr16 354353 354353 G A rs142097791 AXIN1 Nonsynonymous SNV T402M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 183725 chr11 62284597 62284597 C T rs114724263 AHNAK Synonymous SNV P5764P 0 0 0 2 0 0 0.005 0 0 0 0 0 7.931 183726 chr16 4738885 4738885 C T rs376498162 MGRN1 Synonymous SNV S547S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.6 183727 chr16 4751023 4751023 A G rs369241127 ANKS3 Nonsynonymous SNV F238S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.45 183728 chr19 35804273 35804273 C T rs145990989 MAG Synonymous SNV H574H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 183729 chr19 36034017 36034017 G A TMEM147-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.709 183730 chr11 62763514 62763514 C G rs200744153 SLC22A8 Nonsynonymous SNV R168T 0 0 0 2 0 0 0.005 0 0 0 0 0 18.91 183731 chr6 149862538 149862538 A C rs34870012 PPIL4 Synonymous SNV P56P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.569 183732 chr16 4924545 4924545 A G rs371397959 UBN1 Nonsynonymous SNV T712A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 183733 chr19 36278140 36278140 G T rs200811520 ARHGAP33 Synonymous SNV P755P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.293 183734 chr1 1007706 1007706 G A rs576663974 RNF223 Nonsynonymous SNV R81W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.4 183735 chr12 9142305 9142305 A G rs200895257 KLRG1 Nonsynonymous SNV Q25R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.808 183736 chr15 41866014 41866014 - TA rs760074874 TYRO3 0 0.003 0 0 0 1 0 0 0 0 0 0 183737 chr19 36980592 36980592 T A LOC728752 0 0 0.003 0 0 0 0 1 0 0 0 0 8.01 183738 chr6 153319676 153319676 A T rs543483061 MTRF1L Stop gain Y116X 0.002 0 0 0 2 0 0 0 0 0 0 0 11.9 183739 chr17 76471790 76471790 G A rs777425409 DNAH17 Synonymous SNV V2760V 0.003 0 0 0 3 0 0 0 0 0 0 0 4.48 183740 chr16 56686499 56686499 C T rs770498177 MT1B Synonymous SNV C15C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.945 183741 chr19 38189555 38189555 T C rs61910733 ZNF607 Nonsynonymous SNV T492A 0.004 0.01 0.014 1 5 4 0.003 4 0 0 0 0 0.512 183742 chr1 110607389 110607389 C T rs150660098 ALX3 Synonymous SNV P138P 0.006 0.005 0.003 2 7 2 0.005 1 0 0 0 0 15.73 183743 chr15 44094014 44094014 T C rs745848970 SERF2-C15ORF63 0 0.003 0 0 0 1 0 0 0 0 0 0 0.94 183744 chr15 44955660 44955660 G A SPG11 Synonymous SNV S62S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.18 183745 chr1 111860327 111860327 G T rs143586120 CHIA Stop gain E8X 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 37 183746 chr1 111861138 111861138 G A rs114510939 CHIA Synonymous SNV K90K 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 13.01 183747 chr1 111861268 111861268 G A rs79500525 CHIA Nonsynonymous SNV A134T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 13.02 183748 chr1 111861776 111861776 G A rs139812869 CHIA Nonsynonymous SNV G156E 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 0.001 183749 chr1 111861981 111861981 C T rs151038298 CHIA Synonymous SNV G195G 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 Benign 13.83 183750 chr5 80655799 80655799 G - rs760583713 ACOT12 A140Vfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 183751 chr13 111164386 111164386 G A rs12877501 COL4A2 Nonsynonymous SNV G1663S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 183752 chr19 39911479 39911479 G A rs149311978 PLEKHG2 Synonymous SNV G403G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.18 183753 chr5 89769986 89769986 C A rs147831525 MBLAC2 Nonsynonymous SNV V42L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 183754 chr17 79495914 79495914 C T rs189437871 FSCN2 Synonymous SNV S119S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 5.08 183755 chr16 68716318 68716318 C T rs566716627 CDH3 Synonymous SNV G315G 0.003 0 0 0 4 0 0 0 0 0 0 0 13.86 183756 chr19 41242916 41242916 A G rs771918092 ITPKC Nonsynonymous SNV N567S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.77 183757 chr19 42754716 42754716 C T rs200969503 ERF Synonymous SNV G8G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.91 183758 chr16 72158675 72158675 G A rs34831115 PMFBP1 Synonymous SNV D860D 0.009 0 0.003 1 11 0 0.003 1 0 0 0 0 1.453 183759 chr16 72170408 72170408 C A rs35781168 PMFBP1 Nonsynonymous SNV R381L 0.009 0 0.003 1 11 0 0.003 1 0 0 0 0 22.9 183760 chr19 44237864 44237864 C T rs201870805 SMG9 Nonsynonymous SNV R375H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 183761 chr1 13936953 13936953 C T rs12080985 PDPN Synonymous SNV H49H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 9.618 183762 chr7 6731069 6731069 - T ZNF12 Frameshift insertion F502Ifs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 183763 chr17 8193852 8193852 G A rs957136739 SLC25A35 Nonsynonymous SNV R270C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.22 183764 chr16 77353802 77353802 T G rs143047414 ADAMTS18 Nonsynonymous SNV N654H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22 183765 chr13 38145569 38145569 C G rs142117360 POSTN Nonsynonymous SNV E679Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 183766 chr11 71260034 71260034 T A rs202087444 KRTAP5-9 Nonsynonymous SNV C111S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 183767 chr15 71276528 71276528 T A LRRC49 Nonsynonymous SNV D372E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.361 183768 chr17 4837273 4837273 C T rs748180506 GP1BA Synonymous SNV I458I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.25 183769 chr1 151065730 151065730 G A rs745491429 GABPB2 Synonymous SNV E57E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 9.893 183770 chr7 23313698 23313698 A C rs202073355 GPNMB Nonsynonymous SNV Y525S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 183771 chr18 13645439 13645439 C T rs367731439 LDLRAD4 Nonsynonymous SNV S180L 0.002 0 0 0 2 0 0 0 0 0 0 0 32 183772 chr16 816414 816414 G A rs150147307 MSLN Nonsynonymous SNV R385H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.219 183773 chr18 19751960 19751960 G T rs1014349671 GATA6 Synonymous SNV A285A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.656 183774 chr18 21426368 21426368 C T rs749103134 LAMA3 Nonsynonymous SNV P1276L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 2.124 183775 chr7 27195994 27195994 G A rs117316017 HOXA7 Synonymous SNV V57V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.688 183776 chr18 23854934 23854934 G A rs774869384 TAF4B Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 183777 chr6 138638442 138638442 A G rs188337991 ARFGEF3 Nonsynonymous SNV N1467S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 183778 chr7 27282740 27282740 G A rs778719946 EVX1 Nonsynonymous SNV V31M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 183779 chr5 137219237 137219237 T C rs148479015 MYOT Synonymous SNV N143N 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Likely benign 12.36 183780 chr5 137261612 137261612 C T rs146003122 PKD2L2 Synonymous SNV D454D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 17.05 183781 chr5 137593561 137593561 C T rs146309340 GFRA3 Synonymous SNV E184E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.07 183782 chr1 153346386 153346386 C A rs146780107 S100A12 Nonsynonymous SNV D66Y 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 23.4 183783 chr16 86600990 86600990 C T FOXC2 Nonsynonymous SNV P17S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 183784 chr5 139725878 139725878 A - HBEGF L13Wfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 183785 chr18 32374062 32374062 G A rs117571555 DTNA Synonymous SNV L70L 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign 9.697 183786 chr18 34229325 34229325 G A rs756014266 FHOD3 Nonsynonymous SNV E415K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 183787 chr6 152554989 152554989 T G SYNE1 Nonsynonymous SNV E6809A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 183788 chr1 155629717 155629717 G A rs1055582657 YY1AP1 Stop gain Q651X 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 36 183789 chr11 8662454 8662454 G C TRIM66 Nonsynonymous SNV H345D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.5 183790 chr5 140731043 140731043 C T rs189413445 PCDHGB1 Synonymous SNV L406L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.746 183791 chr15 89398566 89398566 - ACT ACAN L918_P919insL 0 0.003 0 0 0 1 0 0 0 0 0 0 183792 chr15 89401122 89401122 C A rs1046979964 ACAN Nonsynonymous SNV A1769E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.83 183793 chr11 92715369 92715369 G A MTNR1B Stop gain W327X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 183794 chr5 142779526 142779526 C T rs10482622 NR3C1 Synonymous SNV K293K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 7.328 183795 chr1 157667213 157667213 C T rs78284410 FCRL3 Synonymous SNV E187E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.102 183796 chr19 50837102 50837102 A G NAPSB 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 183797 chr5 150227737 150227737 G A IRGM Nonsynonymous SNV V18M 0.002 0 0 0 2 0 0 0 0 0 0 0 1.827 183798 chr6 167571033 167571033 A G rs762700388 GPR31 Nonsynonymous SNV L96P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 183799 chr7 70255115 70255115 C T rs113194983 AUTS2 Synonymous SNV Y947Y 0.003 0 0.007 0 3 0 0 2 0 0 0 0 11.17 183800 chr7 73021959 73021959 G C rs72649027 MLXIPL Synonymous SNV P148P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.822 183801 chr17 71468347 71468347 T A SDK2 Nonsynonymous SNV T79S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.45 183802 chr1 159826356 159826356 T C rs763859275 VSIG8 Nonsynonymous SNV N244D 0.005 0 0 0 6 0 0 0 0 0 0 0 13.04 183803 chr1 16058384 16058384 G C rs201370265 PLEKHM2 Synonymous SNV G822G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.22 183804 chr14 20841467 20841467 T C rs753141989 TEP1 Nonsynonymous SNV D2151G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 183805 chr17 1552180 1552180 C T RILP Synonymous SNV G196G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.457 183806 chr12 10530823 10530823 T A rs777003727 KLRC4-KLRK1, KLRK1 Nonsynonymous SNV K147N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.94 183807 chr17 72694574 72694574 T A rs149661344 CD300LF Nonsynonymous SNV I180L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.86 183808 chr18 72226650 72226650 G C CNDP1 Synonymous SNV A82A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.687 183809 chr7 80303461 80303464 TAAG - rs397811824 CD36 *434* 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 183810 chr18 74592113 74592113 A G rs946654131 ZNF236 Synonymous SNV Q343Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.78 183811 chr19 52090091 52090091 A G ZNF175 Synonymous SNV T169T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 183812 chr19 52095694 52095694 C T rs543981259 LINC01530 0 0 0.003 0 0 0 0 1 0 0 0 0 5.525 183813 chr18 77960669 77960669 G A rs747176531 PARD6G Synonymous SNV P73P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 15.45 183814 chr7 91630854 91630854 G A rs746045284 AKAP9 Synonymous SNV R541R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.507 183815 chr18 9257059 9257059 G A rs552519909 ANKRD12 Nonsynonymous SNV S1242N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 183816 chr1 169510483 169510483 T C rs143333036 F5 Nonsynonymous SNV H1282R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.635 183817 chr7 7420292 7420292 G C rs200507350 COL28A1 Nonsynonymous SNV T774R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 183818 chr7 99704050 99704050 A G rs139116680 AP4M1 Synonymous SNV P357P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.487 183819 chr7 100462918 100462918 C T rs568066586 SLC12A9 Nonsynonymous SNV T623M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 3.691 183820 chr7 17931223 17931223 A C SNX13 Nonsynonymous SNV I88M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 183821 chr7 20824989 20824989 G A SP8 Synonymous SNV P149P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.643 183822 chr12 116453013 116453013 A G rs753631230 MED13L Nonsynonymous SNV M359T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 183823 chr16 1996985 1996985 C T rs142332527 RPL3L Nonsynonymous SNV R268Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 183824 chr5 179260613 179260615 AGG - rs778047147 SQSTM1 G334del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 183825 chr14 37051526 37051526 T C rs35076464 NKX2-8 Synonymous SNV Q23Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.69 183826 chr16 2086469 2086469 C T rs62038800 SLC9A3R2 Nonsynonymous SNV R76C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24.3 183827 chr16 21658707 21658707 G C rs749455636 IGSF6 Nonsynonymous SNV C58W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 183828 chr17 78086402 78086402 C T GAA Nonsynonymous SNV R594C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 29.5 183829 chr17 30687717 30687717 A G rs142495699 ZNF207 Synonymous SNV Q136Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.86 183830 chr16 2373667 2373667 C G ABCA3 Nonsynonymous SNV S157T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.45 183831 chr19 55686308 55686308 G A rs747608055 SYT5 Synonymous SNV L252L 0 0 0.007 0 0 0 0 2 0 0 0 0 12 183832 chr19 14574899 14574899 C T rs55755418 PKN1 Synonymous SNV L555L 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 13.37 183833 chr19 55865808 55865808 G T rs769864857 COX6B2 Nonsynonymous SNV Q28K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 183834 chr12 123465223 123465223 G T rs747921915 ARL6IP4 Stop gain E158X 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 37 183835 chr16 27460454 27460454 G A rs56002407 IL21R Synonymous SNV T489T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 14.79 183836 chr14 55903734 55903734 A G rs749215698 TBPL2 Synonymous SNV D51D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.58 183837 chr6 7727413 7727413 G A rs201788022 BMP6 Synonymous SNV E75E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 183838 chr16 28857556 28857556 G C rs559685074 TUFM Nonsynonymous SNV A12G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.4 183839 chr19 56329447 56329447 G A rs76935241 NLRP11 Nonsynonymous SNV R32C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.4 183840 chr12 125438714 125438714 G A rs780796755 DHX37 Nonsynonymous SNV R833W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 183841 chr12 125811215 125811215 G A rs201281880 TMEM132B Nonsynonymous SNV G16R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.893 183842 chr7 47344505 47344505 G A rs575487797 TNS3 Nonsynonymous SNV S916L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 183843 chr1 1896346 1896346 G A rs200040017 CFAP74 Nonsynonymous SNV P519L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 183844 chr19 57335031 57335031 G A rs146592671 PEG3, ZIM2 Synonymous SNV D137D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.586 183845 chr17 36483584 36483584 G A rs202228440 GPR179 Synonymous SNV S1956S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.569 183846 chr17 36486096 36486096 G A rs200950704 GPR179 Nonsynonymous SNV A1119V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.014 183847 chr16 31447333 31447333 G T rs575633022 ZNF843 Synonymous SNV R280R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.348 183848 chr1 19209875 19209875 G A rs754269597 ALDH4A1 Synonymous SNV I107I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.48 183849 chr19 58438953 58438953 C A rs1041246699 ZNF418 Nonsynonymous SNV G114V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.566 183850 chr7 101559403 101559403 C T rs753731049 CUX1 Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 183851 chr14 73733303 73733303 C T rs199905623 PAPLN Stop gain R1120X 0.005 0.003 0.003 4 6 1 0.01 1 0 0 0 0 39 183852 chr14 73753826 73753826 G C rs746096021 NUMB Nonsynonymous SNV A205G 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 22.4 183853 chr1 197298108 197298108 T C rs755611610 CRB1 Synonymous SNV T209T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.014 183854 chr16 4794947 4794947 T C rs147930535 C16orf71 Synonymous SNV S326S 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 0.036 183855 chr14 74876153 74876153 C T rs372731341 SYNDIG1L Nonsynonymous SNV E99K 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 0.606 183856 chr6 33690882 33690882 G A rs61748595 IP6K3 Nonsynonymous SNV A283V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 183857 chr16 49430533 49430533 C T rs752532359 C16orf78 Synonymous SNV T198T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 8.022 183858 chr18 21426335 21426335 C T LAMA3 Nonsynonymous SNV P1265L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 183859 chr16 57059431 57059431 G A NLRC5 Synonymous SNV E192E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.897 183860 chr14 91744472 91744472 G A rs573820836 CCDC88C Nonsynonymous SNV R1618W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.3 183861 chr1 204379630 204379630 G A rs762013594 PPP1R15B Nonsynonymous SNV L304F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 183862 chr18 29419309 29419309 G A rs140822966 TRAPPC8 Nonsynonymous SNV P1317S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 183863 chr16 57794685 57794685 G T KIFC3 Nonsynonymous SNV L627M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 183864 chr16 57794701 57794701 G T KIFC3 Synonymous SNV S621S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.154 183865 chr7 98592308 98592308 C G rs138274731 TRRAP Synonymous SNV L3339L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.689 183866 chr17 41909260 41909260 C T rs761503120 MPP3 Synonymous SNV S30S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 183867 chr12 44782092 44782092 T C rs567561397 TMEM117 Synonymous SNV C290C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 183868 chr1 10364452 10364452 C T rs768176241 KIF1B Nonsynonymous SNV A1070V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.815 183869 chr17 46882165 46882165 G A rs202132591 TTLL6 Stop gain Q98X 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 183870 chr1 10714233 10714233 G A rs766969373 CASZ1 Synonymous SNV I627I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 183871 chr7 150037235 150037235 C T rs199682879 RARRES2 Nonsynonymous SNV R78Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23 183872 chr19 36271687 36271687 G A rs117818455 ARHGAP33 Synonymous SNV P130P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.13 183873 chr7 150553615 150553615 G A rs778494861 AOC1 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.866 183874 chr1 109808484 109808484 G A rs371790513 CELSR2 Nonsynonymous SNV R1952H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 183875 chr1 220928425 220928425 A G rs765015871 MTARC2 Nonsynonymous SNV S137G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.387 183876 chr1 11107017 11107017 G A MASP2 Synonymous SNV Y55Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 183877 chr6 74191865 74191865 A G rs745648209 MTO1 Nonsynonymous SNV T455A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 183878 chr18 65179311 65179311 A T DSEL Synonymous SNV S845S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 183879 chr15 40648340 40648372 CCAGGGCCCTGCGGGCCACCCCCCCACCATGGT - rs750572582 PHGR1 H37_P47del 0.002 0 0 0 2 0 0 0 0 0 0 0 183880 chr16 81056213 81056213 T C rs12447362 CENPN Synonymous SNV I161I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.824 183881 chr16 81095654 81095654 G A rs778576934 C16orf46 Synonymous SNV S100S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.654 183882 chr16 82182973 82182973 T C rs16956538 MPHOSPH6 Synonymous SNV A97A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.214 183883 chr17 56386374 56386374 C T rs769874111 TSPOAP1 Nonsynonymous SNV R1360Q 0.003 0 0 0 3 0 0 0 0 0 0 0 28.2 183884 chr6 90340391 90340391 A T rs748541935 ANKRD6 Nonsynonymous SNV T554S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 183885 chr15 42040936 42040936 C T rs762122487 MGA Nonsynonymous SNV P1563S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 183886 chr17 56620911 56620911 T C rs757655122 SEPTIN4 Nonsynonymous SNV T213A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.377 183887 chr6 90661343 90661343 C T rs760001259 BACH2 Nonsynonymous SNV G161E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 183888 chr15 43025378 43025378 C A rs778455118 CDAN1 Synonymous SNV V458V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.8 183889 chr15 43028207 43028207 G C rs143391538 CDAN1 Synonymous SNV T213T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.633 183890 chr1 228451941 228451941 C T rs142188902 OBSCN Synonymous SNV D1570D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 Benign 17.07 183891 chr17 61561775 61561775 G A rs137910205 ACE Synonymous SNV P598P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.487 183892 chr1 12062061 12062061 T C rs1057518235 MFN2 Nonsynonymous SNV V354A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28 183893 chr18 9524728 9524728 G A RALBP1 Nonsynonymous SNV G397D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.122 183894 chr1 14107079 14107079 G T rs770203174 PRDM2 Nonsynonymous SNV G729V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 183895 chr19 41092767 41092767 C G rs139235592 SHKBP1 Nonsynonymous SNV S418W 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 34 183896 chr15 51633976 51633976 C G rs779432560 GLDN Nonsynonymous SNV A32G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 16.55 183897 chr19 1054267 1054267 G A rs534172941 ABCA7 Nonsynonymous SNV R1218H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.9 183898 chr1 147381007 147381007 C A GJA8 Nonsynonymous SNV L309M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.88 183899 chr1 231906773 231906773 G A rs56229136 DISC1 Nonsynonymous SNV G181S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.473 183900 chr1 233394515 233394515 C T rs572250857 PCNX2 Nonsynonymous SNV G365R 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 28.8 183901 chr8 21974516 21974516 C T rs201956860 HR Nonsynonymous SNV A1084T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 12.6 183902 chr1 152081745 152081745 C T rs138253565 TCHH Synonymous SNV E1316E 0 0 0.007 0 0 0 0 2 0 0 0 0 19.08 183903 chr8 21978273 21978273 G A rs377059643 HR Nonsynonymous SNV R856W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.9 183904 chr19 11492677 11492677 G C rs371029194 EPOR Nonsynonymous SNV P119R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 183905 chr8 22147438 22147438 C G rs145109389 PIWIL2 Nonsynonymous SNV H355Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 183906 chr19 1207176 1207176 C A rs56354945 STK11 Synonymous SNV I88I 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 21.9 183907 chr12 6140691 6140691 T G rs35191786 VWF Synonymous SNV G913G 0 0 0 2 0 0 0.005 0 0 0 0 0 5.471 183908 chr17 72233484 72233484 C T rs149801914 TTYH2 Nonsynonymous SNV R135W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 183909 chr15 60797731 60797731 T C rs16942645 RORA Synonymous SNV E251E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 1.082 183910 chr15 60803462 60803462 G A rs61743834 RORA Synonymous SNV N206N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 7.927 183911 chr1 153660237 153660237 C T rs756718149 NPR1 Synonymous SNV H740H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 183912 chr1 237024484 237024484 T C MTR Synonymous SNV Y294Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.537 183913 chr1 154315764 154315764 G A rs376240681 ATP8B2 Synonymous SNV R562R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 183914 chr1 155220114 155220114 A G rs142630415 FAM189B Nonsynonymous SNV L392P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 27.8 183915 chr19 14200707 14200707 C T rs888441034 SAMD1 Nonsynonymous SNV A176T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 183916 chr1 24411054 24411054 A G rs202183910 MYOM3 Nonsynonymous SNV V625A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 183917 chr17 11648237 11648237 A G rs199667533 DNAH9 Nonsynonymous SNV I2079V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.45 183918 chr7 143017768 143017768 C T rs201509501 CLCN1 Nonsynonymous SNV R105C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 183919 chr19 1556477 1556477 G A MEX3D Synonymous SNV D347D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 183920 chr7 143078852 143078852 T G rs201850974 ZYX Nonsynonymous SNV I63S 0.006 0.008 0.007 3 7 3 0.008 2 1 0 0 0 Benign 22.7 183921 chr7 143087028 143087028 C A rs141990584 ZYX Synonymous SNV V493V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.59 183922 chr17 73618161 73618161 G A MYO15B 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 183923 chr17 1551231 1551231 C T rs34982553 RILP Nonsynonymous SNV R281Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 183924 chr7 148709077 148709077 G C PDIA4 Nonsynonymous SNV I280M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.923 183925 chr1 157771927 157771927 C T rs148190948 FCRL1 Nonsynonymous SNV E222K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 183926 chr17 73892757 73892768 CGGGGCCGGGAT - rs769428646 TRIM65 D84_P87del 0.001 0 0 0 1 0 0 0 0 0 0 0 183927 chr12 76424778 76424778 C T rs377721522 PHLDA1 Synonymous SNV K248K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.43 183928 chr8 38947571 38947571 A T rs201381097 ADAM9 Nonsynonymous SNV N692Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 183929 chr8 68044281 68044281 C T rs752648207 CSPP1 Nonsynonymous SNV S299L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 183930 chr8 68170484 68170484 G A ARFGEF1 Synonymous SNV N759N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.085 183931 chr1 26527896 26527896 G A rs141342547 CATSPER4 Synonymous SNV E417E 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 Benign 6.467 183932 chr1 161647148 161647148 A G rs193030032 FCGR2B Nonsynonymous SNV K263R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.946 183933 chr1 168105519 168105519 G A GPR161 Nonsynonymous SNV P39L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 183934 chr8 95541425 95541425 - TCT rs768834731 VIRMA E250_D251insE 0.004 0 0.003 0 5 0 0 1 0 0 0 0 183935 chr17 26109126 26109126 C T rs766521078 NOS2 Nonsynonymous SNV D213N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 183936 chr8 98991228 98991228 C T rs372424373 MATN2 Nonsynonymous SNV T358M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.7 183937 chr6 170102748 170102748 A G rs139874883 C6orf120 Nonsynonymous SNV I65V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 183938 chr6 170153997 170153997 C T ERMARD Nonsynonymous SNV P15L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 183939 chr6 170175416 170175416 - GAAGA rs555583101 ERMARD Frameshift insertion L333Kfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 183940 chr19 308813 308813 G A rs200376177 MIER2 Nonsynonymous SNV P330L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 183941 chr6 170871039 170871039 - GC rs71010672 TBP Frameshift insertion Q53Hfs*72 0.002 0 0 1 2 0 0.003 0 0 0 0 0 183942 chr17 28029992 28029992 G A rs144233299 SSH2 Nonsynonymous SNV R73W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 183943 chr7 295970 295970 T A rs148276213 FAM20C Nonsynonymous SNV S410T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 25.8 183944 chr7 894605 894605 T G rs372454766 SUN1 Nonsynonymous SNV L335V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 183945 chr1 173551053 173551053 G A rs192421938 SLC9C2 Synonymous SNV D245D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.632 183946 chr17 3030507 3030507 G A rs138415473 OR1G1 Synonymous SNV F113F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 183947 chr7 1485014 1485014 C T MICALL2 Nonsynonymous SNV G231E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 183948 chr17 79496104 79496104 C T rs782118960 FSCN2 Nonsynonymous SNV R183W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 183949 chr1 175336369 175336369 C G TNR Synonymous SNV V343V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.274 183950 chr19 51192508 51192508 A G rs116996922 SHANK1 Synonymous SNV L665L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 5.981 183951 chr17 80041978 80041978 G A rs372288947 FASN Synonymous SNV Y1657Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.646 183952 chr19 35758045 35758045 A G rs149756035 LSR Nonsynonymous SNV D333G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 183953 chr1 178834905 178834905 T C ANGPTL1 Nonsynonymous SNV T3A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 183954 chr1 179064127 179064127 T A rs555533443 TOR3A Nonsynonymous SNV L323H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 29.7 183955 chr1 179815536 179815536 A C rs143853678 TOR1AIP2 Synonymous SNV A361A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.049 183956 chr1 179851738 179851738 C A rs771167764 TOR1AIP1 Nonsynonymous SNV P34H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 183957 chr19 36045974 36045974 T C rs752417012 ATP4A Synonymous SNV R777R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.03 183958 chr19 51826942 51826942 G A rs779810845 IGLON5 Nonsynonymous SNV R62H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 183959 chr1 40859176 40859177 TG - SMAP2 W30Gfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 183960 chr1 180243172 180243172 - T LHX4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 183961 chr1 41499677 41499677 A G rs370298539 SCMH1 Synonymous SNV F503F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.647 183962 chr8 22873214 22873214 G A rs201522021 RHOBTB2 Nonsynonymous SNV V649M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 183963 chr7 12407037 12407037 A G VWDE Synonymous SNV F833F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.551 183964 chr17 3786456 3786456 C T rs737362 CAMKK1 Synonymous SNV P176P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 183965 chr19 37618334 37618334 C A rs141506168 ZNF420 Synonymous SNV A147A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 183966 chr8 143546244 143546244 G C rs548459868 ADGRB1 Nonsynonymous SNV A229P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.646 183967 chr17 38856528 38856528 G T rs376788689 KRT24 Stop gain Y321X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 183968 chr1 45807150 45807150 T C rs142678648 TOE1 Nonsynonymous SNV I81T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 183969 chr17 38956044 38956044 A C rs1024139714 KRT28 Nonsynonymous SNV S34R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 183970 chr8 144103072 144103072 A T rs148728376 LY6E Nonsynonymous SNV M88L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.05 183971 chr1 197074201 197074201 G A ASPM Nonsynonymous SNV L1394F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 183972 chr18 24496234 24496234 G A rs185798102 CHST9 Nonsynonymous SNV P441S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 183973 chr18 2656119 2656119 G A rs756352980 SMCHD1 Synonymous SNV G15G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.724 183974 chr19 38877458 38877458 - GGC rs548116774 GGN P148_R149insP 0.004 0 0.007 0 5 0 0 2 0 0 0 0 183975 chr17 39150060 39150060 C T rs368702159 KRTAP3-3 Nonsynonymous SNV G97D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.988 183976 chr16 16177224 16177224 G A ABCC1 Nonsynonymous SNV G706D 0.007 0.003 0 0 8 1 0 0 0 0 0 0 26 183977 chr19 38990632 38990632 C T rs564179468 RYR1 Synonymous SNV L2433L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 183978 chr16 16259618 16259618 G A rs72657694 ABCC6 Synonymous SNV D1056D 0.007 0.003 0.007 0 8 1 0 2 0 0 0 0 6.97 183979 chr18 29178610 29178610 C T rs28933981 TTR Nonsynonymous SNV T139M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 183980 chr18 2929103 2929103 G A rs104895500 LPIN2 Nonsynonymous SNV L504F 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 183981 chr18 29488748 29488748 A G TRAPPC8 Nonsynonymous SNV I364T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 183982 chr18 29847846 29847846 C T rs199530340 GAREM1 Synonymous SNV R873R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 183983 chr16 19680523 19680523 G A rs763233007 VPS35L Nonsynonymous SNV V662I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 183984 chr8 61777688 61777688 G A rs371898908 CHD7 Synonymous SNV A681A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.25 183985 chr8 144999174 144999174 C T rs782278045 PLEC Synonymous SNV A1627A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.63 183986 chr16 21133321 21133321 T C DNAH3 Nonsynonymous SNV E510G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 17.6 183987 chr7 39379548 39379548 G A rs202064223 POU6F2 Synonymous SNV P302P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 183988 chr8 69243258 69243258 C G rs759402162 C8orf34 Nonsynonymous SNV P4R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 183989 chr8 145158552 145158552 - GGCCCGGCGCCC rs754674690 SHARPIN P35_D36insGAGP 0.004 0.005 0 0 5 2 0 0 0 0 0 0 183990 chr1 20664157 20664157 G A VWA5B1 Nonsynonymous SNV R654Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 183991 chr1 207198299 207198299 G A rs565510495 C1orf116 Synonymous SNV D72D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.03 183992 chr19 55865329 55865329 G A rs199757828 COX6B2 Nonsynonymous SNV H40Y 0.003 0 0 0 3 0 0 0 0 0 0 0 18.09 183993 chr1 207975422 207975422 C T rs80312732 MIR29B2CHG 0 0 0.017 0 0 0 0 5 0 0 0 0 10.97 183994 chr7 48065497 48065497 A G rs765446589 SUN3 Nonsynonymous SNV L54P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 183995 chr18 51750541 51750541 G C rs770638917 MBD2 Nonsynonymous SNV P130R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 183996 chr19 56001010 56001010 C T rs750406511 SSC5D Synonymous SNV D114D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.28 183997 chr1 21049378 21049378 G A rs372422158 SH2D5 Synonymous SNV D229D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.685 183998 chr7 50435881 50435881 A C rs778717141 IKZF1 Nonsynonymous SNV Y113S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.719 183999 chr8 99102077 99102077 G A rs149657750 ERICH5 Nonsynonymous SNV E278K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 184000 chr16 31496010 31496010 A G SLC5A2 Nonsynonymous SNV N48S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 184001 chr19 44622426 44622426 G A ZNF225 Nonsynonymous SNV R34Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 184002 chr17 45043949 45043949 A G GOSR2 Synonymous SNV S211S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.029 184003 chr1 222757576 222757576 T C rs148961634 TAF1A Nonsynonymous SNV Q62R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 184004 chr17 45895904 45895904 G A rs200389347 OSBPL7 Nonsynonymous SNV R150C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 184005 chr16 3534908 3534908 C T rs192431020 NAA60 Nonsynonymous SNV R162C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.054 184006 chr19 4511645 4511645 A C PLIN4 Nonsynonymous SNV L776W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 184007 chr9 33467204 33467204 G A rs752381435 NOL6 Synonymous SNV D594D 0.005 0 0 0 6 0 0 0 0 0 0 0 10.85 184008 chr9 34251503 34251503 C T rs201862416 UBAP1 Synonymous SNV D558D 0.003 0 0 0 4 0 0 0 0 0 0 0 10.72 184009 chr17 47247051 47247051 C T rs369458791 B4GALNT2 Synonymous SNV A494A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.66 184010 chr18 694303 694303 G A rs150777254 ENOSF1 Nonsynonymous SNV A32V 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 28.2 184011 chr16 4559693 4559698 TCCAGT - rs765166997 HMOX2 Q268_F269del 0.001 0 0 0 1 0 0 0 0 0 0 0 184012 chr19 5866909 5866909 G A rs755710824 FUT5 Synonymous SNV N276N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 184013 chr17 48184452 48184452 T C rs376531127 PDK2 Nonsynonymous SNV M143T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.81 184014 chr7 82585733 82585733 T C PCLO Synonymous SNV S1512S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.15 184015 chr17 4837070 4837070 C T rs147455264 GP1BA Nonsynonymous SNV P391S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.03 184016 chr17 4837384 4837384 C T rs148656162 GP1BA Synonymous SNV I495I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 9.483 184017 chr16 4934276 4934276 G A rs142705821 PPL Synonymous SNV A1460A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.493 184018 chr8 141381250 141381250 G A rs148976893 TRAPPC9 Synonymous SNV Y379Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.49 184019 chr1 9073695 9073695 C A rs370287267 SLC2A7 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 184020 chr19 6419255 6419255 G A rs45471199 KHSRP Synonymous SNV P188P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 3.424 184021 chr1 228503666 228503666 C T rs189811758 OBSCN Synonymous SNV D4377D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 184022 chr1 22965687 22965687 C T rs149050968 C1QA Synonymous SNV I175I 0.002 0.003 0.01 2 2 1 0.005 3 0 0 0 0 Benign 9.469 184023 chr17 56247844 56247844 A G rs368323464 OR4D2 Synonymous SNV T276T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 0.003 184024 chr1 23046079 23046079 G A rs932903488 MIR4684 0 0 0.003 0 0 0 0 1 0 0 0 0 4.409 184025 chr1 230928637 230928637 G A rs16852683 CAPN9 Nonsynonymous SNV M548I 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 21.9 184026 chr1 230979207 230979207 C A rs34864456 C1orf198 Nonsynonymous SNV A144S 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.001 184027 chr1 230979247 230979247 G A rs35238992 C1orf198 Synonymous SNV T130T 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 7.596 184028 chr1 231064760 231064760 A G rs16853257 TTC13 Synonymous SNV F407F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.16 184029 chr17 57125141 57125141 A C rs143097255 TRIM37 Nonsynonymous SNV Y370D 0.004 0.005 0 0 5 2 0 0 0 0 0 0 15.78 184030 chr1 231906798 231906798 C T rs147158825 DISC1 Nonsynonymous SNV P189L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 184031 chr1 977059 977105 GCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGG - rs765679438 AGRN R385_D393delinsH 0.001 0 0 0 1 0 0 0 0 0 0 0 184032 chr17 57287653 57287653 C T rs575102059 SMG8 Nonsynonymous SNV R81C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.2 184033 chr14 23886885 23886885 C A MYH7 Nonsynonymous SNV A1394S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 184034 chr8 144799903 144799903 G A rs45495391 MAPK15 Nonsynonymous SNV G36S 0.003 0 0 0 3 0 0 0 0 0 0 0 27.8 184035 chr17 5984358 5984358 C T rs61735454 WSCD1 Nonsynonymous SNV P127L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 184036 chr19 10473048 10473048 G C rs56299955 TYK2 Nonsynonymous SNV R521G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 184037 chr16 67222787 67222787 C G EXOC3L1 Nonsynonymous SNV Q88H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.71 184038 chr20 126213 126213 T C rs77783981 DEFB126 Synonymous SNV C72C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 184039 chr20 126224 126224 A G rs74717966 DEFB126 Nonsynonymous SNV K76R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 184040 chr20 139419 139419 C T rs16995668 DEFB127 Synonymous SNV T18T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.721 184041 chr1 236849999 236849999 A G rs121434525 ACTN2 Nonsynonymous SNV Q9R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.8 184042 chr19 49899054 49899054 T C rs200504503 CCDC155 Nonsynonymous SNV F122L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.34 184043 chr16 70400590 70400590 G A rs764434533 DDX19A Synonymous SNV K251K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.15 184044 chr19 12866988 12866988 G A BEST2 Nonsynonymous SNV D328N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 184045 chr19 50764843 50764843 G A rs181315427 MYH14 Nonsynonymous SNV D805N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 184046 chr17 6663808 6663808 C T rs36014307 XAF1 Nonsynonymous SNV P62L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.185 184047 chr19 13033582 13033582 G C FARSA Nonsynonymous SNV P503A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.194 184048 chr17 6663867 6663867 T C rs35205123 XAF1 Nonsynonymous SNV C82R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 184049 chr8 145580301 145580301 G A rs370751639 FBXL6 Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.794 184050 chr20 18608803 18608803 A G rs758822457 DTD1 Nonsynonymous SNV I135V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.8 184051 chr19 13885501 13885501 - A C19orf53 Frameshift insertion Q46Afs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 184052 chr9 109688482 109688482 A G rs72741799 ZNF462 Synonymous SNV R763R 0.009 0.005 0.007 2 11 2 0.005 2 0 0 0 0 0.023 184053 chr14 42361107 42361107 C T rs377068056 LRFN5 Synonymous SNV S680S 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 5.425 184054 chr20 210225 210225 C T rs79468308 DEFB129 Nonsynonymous SNV A122V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.223 184055 chr19 1487044 1487044 C T rs200211239 PCSK4 Synonymous SNV T292T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 184056 chr19 14938291 14938291 T C rs775073172 OR7A5 Nonsynonymous SNV I255V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 184057 chr17 70845790 70845790 G A rs144832523 SLC39A11 Nonsynonymous SNV T202I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.8 184058 chr20 24959451 24959451 G T APMAP Nonsynonymous SNV L94M 0.003 0 0 0 4 0 0 0 0 0 0 0 23 184059 chr17 7132545 7132545 C T rs772178047 DVL2 Nonsynonymous SNV R289Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.3 184060 chr17 7134081 7134081 C T rs143043931 DVL2 Nonsynonymous SNV R77H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 184061 chr17 7216763 7216763 C T rs8076120 GPS2 Synonymous SNV Q220Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.81 184062 chr17 7222476 7222476 C G rs188303099 NEURL4 Nonsynonymous SNV V1191L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 184063 chr1 248097753 248097753 T A rs45624439 OR2AJ1 Nonsynonymous SNV M229K 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 17.23 184064 chr14 59105220 59105220 G A rs764715977 DACT1 Synonymous SNV E100E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.505 184065 chr9 116984538 116984538 C T rs748462871 COL27A1 Synonymous SNV P819P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.18 184066 chr19 52619586 52619586 G - ZNF616 F278Lfs*68 0.002 0.003 0 0 2 1 0 0 0 0 0 0 184067 chr9 15778980 15778980 G A rs375214888 CCDC171 Synonymous SNV S979S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 184068 chr17 7245357 7245357 C T rs35933585 ACAP1 Nonsynonymous SNV R68C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 184069 chr9 123290160 123290160 G A rs145272328 CDK5RAP2 Nonsynonymous SNV T308I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 184070 chr7 100818083 100818083 C T rs532463604 NAT16 Synonymous SNV K2K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.07 184071 chr17 7319221 7319221 C T rs763290287 NLGN2 Nonsynonymous SNV P477S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 184072 chr19 17000943 17000943 C T rs146980546 F2RL3 Synonymous SNV S223S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.654 184073 chr9 123914881 123914881 A G rs372575690 CNTRL Nonsynonymous SNV H809R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.548 184074 chr9 124103514 124103514 C T rs369630995 STOM Nonsynonymous SNV G113E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 184075 chr9 32989872 32989872 C A rs144076460 APTX Nonsynonymous SNV W6C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 184076 chr19 17305428 17305428 C T rs569670592 MYO9B Synonymous SNV A1064A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 184077 chr7 107556126 107556126 G A rs202125745 DLD Nonsynonymous SNV G188E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 32 184078 chr1 109813074 109813074 G T rs149958673 CELSR2 Synonymous SNV L2445L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.423 184079 chr19 17346818 17346818 C T rs1006116746 NR2F6 Nonsynonymous SNV G144S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 184080 chr17 7399346 7399346 G T rs149517878 POLR2A Synonymous SNV P60P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.62 184081 chr14 69695768 69695768 G A rs537752586 EXD2 Nonsynonymous SNV R65Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 184082 chr1 27939518 27939518 C T rs536587536 FGR Synonymous SNV P499P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 184083 chr9 34665130 34665130 C G rs897706697 LOC730098 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.497 184084 chr7 120629679 120629679 G A rs777151635 CPED1 Nonsynonymous SNV V2I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 184085 chr17 74288446 74288446 G T QRICH2 Nonsynonymous SNV Q622K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.424 184086 chr1 28835176 28835176 A G rs549022073 SNORA73B 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 184087 chr1 28835178 28835178 G A SNORA73B 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 184088 chr1 31454187 31454187 - GCATACTGCTGCTGCTGAGCAGCTGTCAAC PUM1 L409_A410insTAAQQQQYAL 0 0 0.003 0 0 0 0 1 0 0 0 0 184089 chr1 11188924 11188924 A G rs766184830 MTOR Synonymous SNV D1933D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.146 184090 chr9 130270247 130270247 C G NIBAN2 Nonsynonymous SNV R505P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 184091 chr16 88780123 88780123 G C rs778581918 CTU2 Nonsynonymous SNV E227D 0.001 0 0 0 1 0 0 0 0 0 0 0 27 184092 chr1 32126681 32126681 G A rs182840470 COL16A1 Nonsynonymous SNV R1271W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 184093 chr7 128508819 128508819 T G rs916921020 ATP6V1FNB Nonsynonymous SNV L174R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.06 184094 chr9 131020364 131020364 C T rs531340701 GOLGA2 Synonymous SNV S762S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.16 184095 chr1 3431139 3431139 T C MEGF6 Synonymous SNV L276L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 184096 chr17 76495095 76495095 C T rs61746975 DNAH17 Nonsynonymous SNV V1914M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 184097 chr17 76498566 76498566 G C rs74001389 DNAH17-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.754 184098 chr17 76498568 76498568 C T rs74001390 DNAH17-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.836 184099 chr20 47614968 47614968 T C ARFGEF2 Nonsynonymous SNV S1120P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 184100 chr1 36026181 36026181 G A rs147068711 NCDN Synonymous SNV P126P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.453 184101 chr1 3659648 3659648 G T rs188980658 TP73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.363 184102 chr20 48500560 48500560 G A rs145892627 SLC9A8 Nonsynonymous SNV R499H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 184103 chr19 21239487 21239487 G T rs139084188 ZNF430 Nonsynonymous SNV D124Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.91 184104 chr9 80861604 80861604 C T rs201356997 CEP78 Synonymous SNV C266C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.55 184105 chr7 140223161 140223161 G A DENND2A Stop gain Q871X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 47 184106 chr1 39395079 39395079 G A rs905495709 RHBDL2 Stop gain R35X 0 0 0.003 0 0 0 0 1 0 0 0 0 5.342 184107 chr1 39847634 39847634 G C MACF1 Nonsynonymous SNV W2491S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 184108 chr1 40960925 40960925 A G rs776781729 ZFP69 Nonsynonymous SNV I260V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.359 184109 chr19 23927909 23927909 A G rs778466202 ZNF681 Nonsynonymous SNV M148T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 184110 chr17 1378285 1378285 C T rs374187920 MYO1C Nonsynonymous SNV R539Q 0.003 0 0 0 3 0 0 0 0 0 0 0 30 184111 chr17 79100306 79100306 C T rs533211832 AATK Nonsynonymous SNV D123N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 25.2 184112 chr9 104184181 104184181 G C rs78340951 ALDOB Nonsynonymous SNV N335K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 26.5 184113 chr9 137803031 137803031 G C rs145090957 FCN1 Nonsynonymous SNV D227E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 184114 chr17 8159894 8159894 C T rs769287664 PFAS Nonsynonymous SNV P292S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.33 184115 chr9 139289316 139289316 G A rs557393505 SNAPC4 Synonymous SNV N162N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.527 184116 chr1 47882391 47882391 A G rs372281087 FOXE3 Nonsynonymous SNV E135G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.9 184117 chr9 113137667 113137667 C T rs371415757 SVEP1 Synonymous SNV T3527T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 19.09 184118 chr17 8438784 8438784 A G MYH10 Synonymous SNV N595N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.413 184119 chr1 54666084 54666084 G A MRPL37 Synonymous SNV E56E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 184120 chr15 31776210 31776210 - GGCGGCGGCGGC OTUD7A A689_T690insAAAA 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 184121 chr8 1841758 1841758 T C rs118161222 ARHGEF10 Synonymous SNV G364G 0.006 0 0.007 4 7 0 0.01 2 0 0 0 0 Benign 1.109 184122 chr1 55591376 55591376 T C USP24 Nonsynonymous SNV T1231A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 184123 chr19 6427504 6427504 C T rs371891539 SLC25A41 Synonymous SNV K211K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.203 184124 chr8 2054109 2054109 G A rs61733861 MYOM2 Nonsynonymous SNV A938T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 184125 chr18 22804374 22804374 T C rs146987568 ZNF521 Nonsynonymous SNV S950G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.457 184126 chr1 60302562 60302562 A G HOOK1 Nonsynonymous SNV I164M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 184127 chr19 39668371 39668371 C T rs146955542 PAK4 Synonymous SNV P361P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.8 184128 chr10 3177945 3177945 G A rs770151566 PFKP Nonsynonymous SNV D447N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 184129 chr1 62672965 62672965 A C rs528121289 L1TD1 Nonsynonymous SNV N222T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.811 184130 chr17 29298390 29298390 A G rs368080023 RNF135 Nonsynonymous SNV H100R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 0.001 184131 chr1 62738900 62738900 C T KANK4 Nonsynonymous SNV A626T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 184132 chr8 10396226 10396226 C T rs143626876 PRSS55 Nonsynonymous SNV P328S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.963 184133 chr9 124975956 124975956 T C rs761983883 LHX6 Nonsynonymous SNV D112G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 184134 chr1 65243708 65243708 G T RAVER2 Nonsynonymous SNV S240I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 184135 chr19 407937 407937 G A C2CD4C Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 184136 chr18 30672840 30672840 C A rs62090751 CCDC178 Nonsynonymous SNV R720L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 184137 chr19 41012158 41012158 C T rs147689079 SPTBN4 Nonsynonymous SNV R561W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 184138 chr8 12952750 12952750 C T rs150186144 DLC1 Nonsynonymous SNV V547M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 184139 chr1 70385301 70385301 C T rs11802766 PIN1P1 0 0 0.014 0 0 0 0 4 0 0 0 0 6.289 184140 chr21 36042518 36042518 G A CLIC6 Synonymous SNV G277G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.884 184141 chr1 74946347 74946347 C T LRRC53 Nonsynonymous SNV G132S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 184142 chr19 831865 831865 G A rs767425656 AZU1 Synonymous SNV P248P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.109 184143 chr17 33884166 33884166 C G rs373500415 SLFN14 Nonsynonymous SNV D306H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.52 184144 chr1 7887785 7887785 C T rs142483609 PER3 Synonymous SNV P932P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.63 184145 chr19 42814445 42814445 G A rs752676239 PRR19 Synonymous SNV E208E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.091 184146 chr1 85655820 85655820 T C rs372217102 SYDE2 Nonsynonymous SNV Q454R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.404 184147 chr1 87598357 87598357 C T rs769885720 LINC01140 0 0 0.003 0 0 0 0 1 0 0 0 0 8.904 184148 chr8 23560231 23560231 C G NKX2-6 Synonymous SNV L213L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.362 184149 chr9 131741602 131741602 - AAC NUP188 T423_E424insT 0.001 0 0 0 1 0 0 0 0 0 0 0 184150 chr19 9006667 9006667 A G rs75101943 MUC16 Nonsynonymous SNV I13194T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.083 184151 chr21 45096709 45096709 C T rs774996157 RRP1B Nonsynonymous SNV T237I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 184152 chr9 132630719 132630719 C T rs542286779 USP20 Nonsynonymous SNV R376W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 184153 chr8 26614207 26614207 A G rs780556323 ADRA1A Nonsynonymous SNV S325P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.308 184154 chr19 45024717 45024717 A G CEACAM20 Nonsynonymous SNV L274P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.108 184155 chr18 61390381 61390381 C G rs117415609 SERPINB11 Synonymous SNV L134L 0.003 0.005 0.014 3 4 2 0.008 4 0 0 0 0 7.733 184156 chr1 94057836 94057836 G A rs374784683 BCAR3 Nonsynonymous SNV R67C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 184157 chr1 95005865 95005865 T C rs114064069 F3 Nonsynonymous SNV I54V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.9 184158 chr21 47558435 47558435 C T rs539095795 FTCD Nonsynonymous SNV R477Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 184159 chr19 4525009 4525009 C T rs199793340 PLIN5 Nonsynonymous SNV G267D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.48 184160 chr1 9714365 9714365 G A rs111697224 PIK3CD-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 22.6 184161 chr1 98144726 98144726 T C rs45589337 DPYD Nonsynonymous SNV K259E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 23.4 184162 chr15 59516943 59516943 G A MYO1E Nonsynonymous SNV S241L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 34 184163 chr9 136323069 136323069 C T rs782207691 ADAMTS13 Synonymous SNV I1310I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 184164 chr8 52412263 52412263 G A rs548965225 PXDNL Stop gain R150X 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 184165 chr19 46124833 46124833 C T rs201715163 EML2 Nonsynonymous SNV A186T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 22.6 184166 chr19 46177961 46177961 C T rs5391 GIPR Synonymous SNV N134N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.365 184167 chr19 46627296 46627296 G C rs10406448 IGFL3 Nonsynonymous SNV T66S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 184168 chr19 46627559 46627559 T A rs10408134 IGFL3 Synonymous SNV T15T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.729 184169 chr19 47127366 47127366 G A rs776794335 PTGIR Synonymous SNV S39S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.407 184170 chr19 47570199 47570199 G A rs202213560 ZC3H4 Nonsynonymous SNV P1109L 0.006 0.003 0 0 7 1 0 0 0 0 0 0 18.59 184171 chr8 71593503 71593503 A G rs370053282 XKR9 Synonymous SNV A70A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.806 184172 chr8 79627505 79627505 C T rs139814140 ZC2HC1A Nonsynonymous SNV P252S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.32 184173 chr8 94746897 94746897 C T rs764615923 RBM12B Nonsynonymous SNV R581Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.45 184174 chr22 24919655 24919655 G T rs767055701 UPB1 Nonsynonymous SNV G329W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 34 184175 chr19 49107027 49107027 C T rs186446771 FAM83E Synonymous SNV S300S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12 184176 chr8 101054072 101054072 C T RGS22 Synonymous SNV K451K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 184177 chr20 2638899 2638901 AAG - rs745419060 NOP56 K586del 0 0 0.003 0 0 0 0 1 0 0 0 0 184178 chr20 30686910 30686910 C A rs541906170 HCK Synonymous SNV I429I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 184179 chr1 112319836 112319836 C T KCND3 Synonymous SNV Q507Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 184180 chr8 103309146 103309146 C T UBR5 Nonsynonymous SNV V1214I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 184181 chr1 182850483 182850483 C T rs201506072 DHX9 Synonymous SNV I903I 0.01 0.005 0.007 1 12 2 0.003 2 0 0 0 0 Benign 15.26 184182 chr20 31954730 31954730 G A rs148992921 CDK5RAP1 Stop gain R416X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 184183 chr17 46620703 46620703 G A rs554594017 HOXB2 Synonymous SNV R266R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.731 184184 chr19 50099540 50099540 C T rs201667848 PRR12 Nonsynonymous SNV P650S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 184185 chr22 31485992 31485992 A G rs771988430 SMTN Nonsynonymous SNV Q316R 0.005 0 0 0 6 0 0 0 0 0 0 0 0.001 184186 chr20 35315903 35315903 G A rs777265852 NDRG3 Synonymous SNV F92F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.046 184187 chr20 3641471 3641471 G A rs545498334 GFRA4 Nonsynonymous SNV A171V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.228 184188 chr10 73405632 73405632 C T rs185105210 CDH23 Synonymous SNV S395S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.46 184189 chr20 368745 368745 G A rs373054103 TRIB3 Nonsynonymous SNV V31I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 184190 chr17 48431152 48431166 AACCAGCCGGCAGAG - XYLT2 T100_R104del 0.001 0 0 0 1 0 0 0 0 0 0 0 184191 chr10 75567980 75567980 C T rs150901044 NDST2 Nonsynonymous SNV S56N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.53 184192 chr19 11527628 11527628 C T rs143235367 RGL3 Nonsynonymous SNV D85N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 184193 chr20 419916 419916 T C rs977342691 TBC1D20 Synonymous SNV E264E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.437 184194 chr22 38017682 38017682 C T rs138483740 GGA1 Synonymous SNV L196L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 184195 chr22 38318362 38318362 C T rs565694573 MICALL1 Nonsynonymous SNV T318M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 184196 chr20 45212272 45212272 G C SLC13A3 Synonymous SNV V336V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 184197 chr19 14083695 14083695 C T rs201914058 RFX1 Nonsynonymous SNV G392R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.97 184198 chr8 139815178 139815178 C T COL22A1 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 184199 chr8 141525292 141525292 A C rs144898774 CHRAC1 Nonsynonymous SNV E114D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 10.32 184200 chr15 90191663 90191663 G C rs8030837 KIF7 Synonymous SNV L422L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 8.481 184201 chr20 49620909 49620909 G T rs150548464 KCNG1 Synonymous SNV A403A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.224 184202 chr1 146747881 146747881 C T CHD1L Nonsynonymous SNV T296I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 184203 chr1 149878221 149878221 G A rs587611101 SV2A Synonymous SNV I74I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.27 184204 chr10 94393383 94393383 A G rs148976883 KIF11 Nonsynonymous SNV N569S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 4.456 184205 chr17 60106979 60106979 G A rs377226714 MED13 Synonymous SNV C402C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.3 184206 chr8 144398257 144398257 C G rs150897789 TOP1MT Nonsynonymous SNV R359P 0.002 0 0 0 2 0 0 0 0 0 0 0 33 184207 chr17 6328781 6328781 C G rs200059712 AIPL1 X322S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.008 184208 chr22 46794505 46794505 G A rs537269260 CELSR1 Synonymous SNV P1814P 0.003 0 0 0 3 0 0 0 1 0 0 0 9.041 184209 chr19 16000451 16000451 T C CYP4F2 Nonsynonymous SNV K234E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.249 184210 chr1 153233991 153233991 - CTCTGGCGGCGGCTCTGGCGGCGG LOR G195_C196insGGSGGGSG 0.002 0 0 0 2 0 0 0 0 0 0 0 184211 chr16 11868306 11868306 A G rs774187742 ZC3H7A Nonsynonymous SNV V230A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.142 184212 chr20 60968528 60968528 G A rs769583416 CABLES2 Nonsynonymous SNV P283L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.662 184213 chr20 61300302 61300302 G A SLCO4A1 Nonsynonymous SNV A633T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 184214 chr19 17317503 17317503 A G rs770822125 MYO9B Nonsynonymous SNV Q1801R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 184215 chr1 155015270 155015270 G A rs928787027 DCST1 Nonsynonymous SNV D293N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 184216 chr20 61512515 61512515 C T rs779378700 DIDO1 Nonsynonymous SNV G1598D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 184217 chr19 55045144 55045144 C T rs371369615 KIR3DX1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.903 184218 chr16 1442911 1442911 C T rs61741579 UNKL Nonsynonymous SNV G335D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.103 184219 chr10 102770427 102770427 G A rs895187941 PDZD7 Nonsynonymous SNV P740L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 7.136 184220 chr17 6978460 6978460 G A rs372729049 CLEC10A Synonymous SNV D261D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.597 184221 chr10 104161884 104161884 G T NFKB2 Nonsynonymous SNV G849V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.09 184222 chr1 213186707 213186707 G A ANGEL2 Nonsynonymous SNV P38L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.95 184223 chr21 16340037 16340037 C T rs760404758 NRIP1 Synonymous SNV E159E 0 0.005 0.003 0 0 2 0 1 0 0 0 0 7.502 184224 chr8 146277988 146277988 C T rs767930297 C8orf33 Nonsynonymous SNV A8V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 184225 chr9 312055 312055 A G rs140509120 DOCK8 Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.11 184226 chr1 22201453 22201453 G A rs754721291 HSPG2 Synonymous SNV T1116T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.69 184227 chr16 2103392 2103392 A T rs137853994 TSC2 Nonsynonymous SNV E43V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 25.9 184228 chr19 2251930 2251930 G T rs770189890 AMH Nonsynonymous SNV V553L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.1 184229 chr19 2252910 2252910 C A rs370207749 JSRP1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.9 184230 chr2 110970098 110970098 G A rs191502224 MTLN Nonsynonymous SNV A84V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.838 184231 chr2 111416241 111416241 G A rs779959736 BUB1 Nonsynonymous SNV T432M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 184232 chr10 71690259 71690259 G T rs150441444 COL13A1 Nonsynonymous SNV S477I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 22.9 184233 chr1 223905519 223905519 G C CAPN2 Nonsynonymous SNV C20S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 184234 chr9 6413571 6413571 G A UHRF2 Synonymous SNV E27E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.506 184235 chr16 23767708 23767708 G A rs747367042 CHP2 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24 184236 chr9 14806786 14806786 G A rs200894045 FREM1 Synonymous SNV S1049S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.395 184237 chr1 160011634 160011634 C T rs200807361 KCNJ10 Nonsynonymous SNV R230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.6 184238 chr21 36410870 36410877 CTCTCTCT - rs774207477 RUNX1-IT1 0 0 0.007 0 0 0 0 2 0 0 1 0 184239 chr19 2933838 2933838 C T rs201521069 ZNF77 Synonymous SNV T429T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 17.32 184240 chr21 36410910 36410910 C G rs8126848 RUNX1-IT1 0 0 0.024 0 0 0 0 7 0 0 3 0 0.811 184241 chr21 38525492 38525492 G A rs765313126 TTC3 Synonymous SNV K163K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 184242 chr2 127953036 127953036 C A CYP27C1 Nonsynonymous SNV R198S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 184243 chr2 128388466 128388468 CTC - rs375081670 MYO7B S1615del 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 184244 chr19 58118269 58118272 AAAC - rs776931360 ZNF530 T460Sfs*131 0.001 0 0 0 1 0 0 0 0 0 0 0 184245 chr10 88703655 88703655 T C rs769805644 MMRN2 Nonsynonymous SNV K296E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 184246 chr21 43523632 43523632 A G UMODL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.711 184247 chr21 43547250 43547250 T C UMODL1 Nonsynonymous SNV L1199P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 184248 chr21 43711756 43711756 C T rs755253834 ABCG1 Nonsynonymous SNV T560M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 184249 chr17 7752244 7752244 C G rs373157695 KDM6B Nonsynonymous SNV R880G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.7 184250 chr9 35906601 35906601 - CCACCACACCCCTCACCACACCCCTCACCACCACCACCA HRCT1 H107_R108insHTPHHTPHHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 184251 chr19 6466638 6466638 A G rs140748113 CRB3 Synonymous SNV P106P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 16.85 184252 chr21 45232322 45232322 T C rs9985006 AATBC 0 0 0.007 0 0 0 0 2 0 0 1 0 0.759 184253 chr17 78176000 78176000 A T rs1031489302 CARD14 Nonsynonymous SNV D667V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.3 184254 chr9 73218345 73218345 C T rs142105736 TRPM3 Synonymous SNV V881V 0.003 0 0 0 4 0 0 0 0 0 0 0 16.28 184255 chr16 3707205 3707205 C T rs8175352 DNASE1 Synonymous SNV G189G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.06 184256 chr10 135207790 135207790 G A rs770319938 MTG1 Synonymous SNV L22L 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 6.481 184257 chr10 96012109 96012109 G T rs200419008 PLCE1 Nonsynonymous SNV A737S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.2 184258 chr10 135207802 135207802 C T rs938581820 MTG1 Synonymous SNV D26D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 184259 chr19 36243717 36243717 C T rs185740342 LIN37 Synonymous SNV I44I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 184260 chr19 36303753 36303753 C G rs142806923 PRODH2 Synonymous SNV L61L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.461 184261 chr1 235295263 235295263 A T rs537801075 RBM34 Nonsynonymous SNV M352K 0.007 0.003 0 0 8 1 0 0 0 0 0 0 19.93 184262 chr21 46876156 46876156 A C rs189589098 COL18A1 Nonsynonymous SNV S238R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.887 184263 chr21 46900670 46900670 C T rs112723616 COL18A1 Synonymous SNV G683G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.88 184264 chr17 7909890 7909890 C T rs61749678 GUCY2D Synonymous SNV D412D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.041 184265 chr16 4743741 4743741 C T rs201317933 NUDT16L1 Nonsynonymous SNV A5V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 13.18 184266 chr17 79219953 79219953 C T rs763699653 SLC38A10 Synonymous SNV T921T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 184267 chr19 3746025 3746025 C T rs145522559 TJP3 Synonymous SNV T652T 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 11.28 184268 chr19 806469 806469 G A rs11549881 PTBP1 Synonymous SNV A318A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.427 184269 chr19 808373 808373 C T rs147330037 PTBP1 Synonymous SNV D363D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.267 184270 chr22 18273978 18273978 G A rs61743624 MICAL3 Synonymous SNV L1914L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.34 184271 chr17 79891225 79891225 C G PYCR1 Nonsynonymous SNV E244D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 184272 chr19 814624 814624 G - rs551349385 PLPPR3 P242Qfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 184273 chr1 180010856 180010856 G A rs139888010 CEP350 Synonymous SNV L1427L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.589 184274 chr10 102771512 102771512 G A rs1013083731 PDZD7 Nonsynonymous SNV P647L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.992 184275 chr2 167262264 167262264 C T rs780094202 SCN7A Synonymous SNV E1625E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 184276 chr19 8615049 8615049 C T rs199584431 MYO1F Nonsynonymous SNV V362M 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 33 184277 chr19 8661286 8661286 C T rs371338317 ADAMTS10 Synonymous SNV P365P 0.003 0 0 0 4 0 0 0 0 0 0 0 4.697 184278 chr2 169826015 169826015 G A rs764456928 ABCB11 Nonsynonymous SNV T619M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 184279 chr1 185964136 185964136 C T rs146418772 HMCN1 Nonsynonymous SNV T1232M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 5.068 184280 chr10 111967693 111967693 G A rs141964073 MXI1 Nonsynonymous SNV A43T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.2 184281 chr1 1878432 1878432 C T CFAP74 Synonymous SNV G746G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.57 184282 chr16 58031842 58031842 G A ZNF319 Nonsynonymous SNV L110F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.557 184283 chr2 175976338 175976338 T G rs777318702 ATF2 Synonymous SNV P204P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.744 184284 chr19 40929358 40929358 C T rs151146859 SERTAD1 Synonymous SNV A32A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.732 184285 chr1 19199350 19199350 A T rs528211463 ALDH4A1 Nonsynonymous SNV Y510N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 184286 chr22 25282591 25282591 C T rs759798513 SGSM1 Nonsynonymous SNV R556C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 184287 chr16 66527231 66527231 G A rs139137875 BEAN1 Nonsynonymous SNV E172K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.47 184288 chr16 66527256 66527256 C A rs143061241 BEAN1 Nonsynonymous SNV A180D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.163 184289 chr16 66620929 66620929 G T rs138915340 CMTM2 Synonymous SNV A105A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.164 184290 chr16 66977896 66977896 G A rs147694237 CES2 Nonsynonymous SNV E550K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.309 184291 chr16 67000626 67000626 A G CES3 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 184292 chr18 21496652 21496652 A G rs149306119 LAMA3 Nonsynonymous SNV E974G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 15.06 184293 chr16 67235970 67235970 G A rs555214160 ELMO3 Nonsynonymous SNV A381T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.88 184294 chr2 179469442 179469442 C T TTN Nonsynonymous SNV R9060K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 184295 chr19 42085816 42085816 T C CEACAM21 Nonsynonymous SNV F179L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.029 184296 chr16 67684012 67684012 C A rs201841470 CARMIL2 Nonsynonymous SNV R715S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.15 184297 chr19 4229587 4229587 A G rs748366926 EBI3 Nonsynonymous SNV S14G 0.008 0.01 0 1 9 4 0.003 0 0 0 0 0 0.001 184298 chr22 31330059 31330059 C T rs144738487 MORC2 Synonymous SNV K771K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 184299 chr22 31859079 31859079 C T EIF4ENIF1 Nonsynonymous SNV R209K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 184300 chr16 70190676 70190676 C T rs201167369 PDPR Nonsynonymous SNV A745V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 26.9 184301 chr22 32914091 32914091 G A rs750024061 SYN3 Nonsynonymous SNV R516C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 184302 chr9 119976718 119976718 C T rs778616238 ASTN2 Nonsynonymous SNV D312N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 184303 chr16 70694056 70694056 C T rs141513638 IL34 Nonsynonymous SNV P231L 0 0 0 4 0 0 0.01 0 0 0 0 0 9.828 184304 chr1 100598754 100598754 G T rs149845319 TRMT13 Synonymous SNV A10A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.94 184305 chr10 126185530 126185530 G T rs146652970 LHPP Synonymous SNV G156G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.34 184306 chr16 71660385 71660385 C A rs201459139 MARVELD3 Nonsynonymous SNV P85T 0 0 0.003 4 0 0 0.01 1 0 0 0 0 7.515 184307 chr22 37524388 37524388 G A rs35134562 IL2RB Synonymous SNV D468D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.629 184308 chr16 71703264 71703264 T C rs113061734 PHLPP2 Synonymous SNV L514L 0 0 0.007 4 0 0 0.01 2 0 0 0 0 7.755 184309 chr11 2424180 2424180 G A rs137872687 TSSC4 Nonsynonymous SNV R106Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.927 184310 chr9 125148756 125148756 C T rs201795484 PTGS1 Synonymous SNV Y299Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 184311 chr16 72013812 72013812 C T rs200969421 PKD1L3 0.001 0 0 4 1 0 0.01 0 0 0 0 0 22.9 184312 chr10 129535561 129535561 G A FOXI2 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.444 184313 chr18 47015784 47015784 G A rs761995432 RPL17, RPL17-C18orf32 Nonsynonymous SNV T113M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 184314 chr16 72831357 72831357 - TTGTTG rs552138038 ZFHX3 Q827_A828insQQ 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 184315 chr1 31191880 31191880 G A rs555199540 MATN1-AS1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.577 184316 chr18 48447102 48447102 A T ME2 Stop gain K306X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 40 184317 chr1 109839501 109839501 C T rs140827712 MYBPHL Nonsynonymous SNV G212S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 184318 chr19 45419581 45419581 C T rs780332997 APOC1 Nonsynonymous SNV R65W 0 0.003 0 0 0 1 0 0 0 0 0 0 9.799 184319 chr1 110655411 110655411 G T rs138340933 UBL4B Synonymous SNV P85P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.991 184320 chr1 11087391 11087391 A G rs759594553 MASP2 Synonymous SNV L538L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.279 184321 chr1 20979160 20979160 A C DDOST Nonsynonymous SNV V392G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 184322 chr10 135203236 135203236 C G rs45606937 PAOX Nonsynonymous SNV D459E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.417 184323 chr22 45719125 45719125 C T rs138980075 FAM118A Synonymous SNV S39S 0 0.008 0.007 1 0 3 0.003 2 0 0 0 0 10.98 184324 chr1 38274679 38274679 C G rs145813242 C1orf122 Synonymous SNV P26P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.005 184325 chr22 46508487 46508487 G A rs150510406 MIRLET7BHG 0 0 0.007 0 0 0 0 2 0 0 0 0 6.217 184326 chr22 46611203 46611203 C T rs761662939 PPARA Synonymous SNV Y114Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 184327 chr22 50018531 50018531 T C C22orf34 Nonsynonymous SNV S36G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 184328 chr11 563461 563461 C T rs148520444 RASSF7 Synonymous SNV A339A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 184329 chr2 209169723 209169723 C T rs768621450 PIKFYVE Nonsynonymous SNV P444L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 184330 chr19 49238752 49238752 C T rs570946701 RASIP1 Nonsynonymous SNV G294R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 184331 chr19 49376776 49376776 C T PPP1R15A Synonymous SNV L96L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.965 184332 chr1 43812120 43812120 C T MPL Nonsynonymous SNV P329S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 184333 chr1 1262939 1262939 C T rs367634973 CPTP Synonymous SNV A147A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 184334 chr19 49694029 49694029 G A rs145847114 TRPM4 Nonsynonymous SNV G383R 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.015 184335 chr22 51176453 51176453 G A rs374583693 LOC105373100 0 0 0.003 0 0 0 0 1 0 0 0 0 0.707 184336 chr19 50248535 50248535 G A rs139041109 TSKS Nonsynonymous SNV R371W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.9 184337 chr2 10595570 10595570 C G rs79632819 ODC1-DT 0 0 0.01 0 0 0 0 3 0 0 0 0 5.268 184338 chr2 109086111 109086111 C G GCC2 Nonsynonymous SNV S109C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.09 184339 chr2 219677034 219677034 A G rs145080072 CYP27A1 Nonsynonymous SNV N179S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 184340 chr2 220079711 220079711 A T rs143971797 ABCB6 Synonymous SNV I370I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.795 184341 chr16 89967128 89967128 C G TCF25 Nonsynonymous SNV P436R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 184342 chr2 116283497 116283497 T C rs138259404 DPP10 Synonymous SNV H91H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.407 184343 chr19 51843922 51843922 G A VSIG10L Synonymous SNV A318A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 184344 chr19 11277247 11277247 G A rs146639208 KANK2 Nonsynonymous SNV S856L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 27.3 184345 chr19 11332560 11332560 G A rs145081732 DOCK6 Nonsynonymous SNV R1173W 0.002 0.005 0 0 2 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 27.7 184346 chr1 231374838 231374838 G A C1orf131 Nonsynonymous SNV P72L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 184347 chr19 11350560 11350560 C T rs74810158 ANGPTL8 Nonsynonymous SNV R83W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 184348 chr2 121744158 121744158 G A rs144782119 GLI2 Nonsynonymous SNV R754Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 184349 chr2 128394439 128394439 C T rs201505994 MYO7B Nonsynonymous SNV A2067V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.931 184350 chr17 13977645 13977645 G A rs746426795 COX10 Nonsynonymous SNV V17I 0 0.005 0 2 0 2 0.005 0 0 0 0 0 11.08 184351 chr19 12297897 12297897 G A rs781263057 ZNF136 Nonsynonymous SNV C169Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.805 184352 chr2 141533711 141533711 G A rs376513891 LRP1B Nonsynonymous SNV S1819F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.8 184353 chr11 2441513 2441513 C A rs376383776 TRPM5 Synonymous SNV G196G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.07 184354 chr10 7657984 7657984 A G rs35566317 ITIH5 Synonymous SNV L86L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 8.213 184355 chr2 152321002 152321002 T A RIF1 Synonymous SNV T1656T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.577 184356 chr2 232263318 232263318 G A rs373701603 B3GNT7 Synonymous SNV P296P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.186 184357 chr1 74715186 74715186 G T rs201061482 FPGT-TNNI3K, TNNI3K Stop gain E65X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 40 184358 chr17 21094447 21094447 G A rs143358693 DHRS7B Nonsynonymous SNV R305Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 184359 chr1 24706220 24706220 A G rs774897144 STPG1 Nonsynonymous SNV S82P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 184360 chr2 166606355 166606355 T G rs768399418 GALNT3 Nonsynonymous SNV E559A 0 0 0.003 0 0 0 0 1 0 0 0 0 32 184361 chr1 158813913 158813913 G C MNDA 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 184362 chr2 168102794 168102794 G A rs200253846 XIRP2 Nonsynonymous SNV G1409E 0 0 0.003 0 0 0 0 1 0 0 0 0 26 184363 chr19 55451720 55451720 C T rs61746625 NLRP7 Nonsynonymous SNV R156Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 4.265 184364 chr1 159504971 159504971 G A rs149096656 OR10J5 Nonsynonymous SNV T276M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 184365 chr2 23980455 23980455 G A rs372015732 ATAD2B Nonsynonymous SNV S1299F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 184366 chr1 160389259 160389259 G T VANGL2 Synonymous SNV V220V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.282 184367 chr17 26369956 26369956 T C NLK Synonymous SNV G19G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.729 184368 chr17 26906197 26906197 T C SPAG5 Nonsynonymous SNV I1027V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.2 184369 chr19 17547342 17547342 G A rs111800459 TMEM221 Synonymous SNV D267D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.24 184370 chr17 27085998 27085998 T C rs199717133 FAM222B Nonsynonymous SNV M327V 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 1.193 184371 chr19 17571655 17571655 G T rs140823542 NXNL1 Synonymous SNV R8R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 184372 chr17 27448927 27448927 C T rs201811476 MYO18A Nonsynonymous SNV R379H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 34 184373 chr17 27948366 27948366 T - CORO6 Y25Sfs*131 0 0 0 1 0 0 0.003 0 0 0 0 0 184374 chr17 30814886 30814886 A G rs779189969 CDK5R1 Nonsynonymous SNV N83S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.376 184375 chr2 18112774 18112774 C A KCNS3 Nonsynonymous SNV L167I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.219 184376 chr11 48164493 48164493 C A rs777090273 PTPRJ Synonymous SNV S822S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 19.04 184377 chr19 18709642 18709642 G A rs150710034 CRLF1 Nonsynonymous SNV T156M 0.003 0 0 0 3 0 0 0 0 0 0 0 21.6 184378 chr19 56719890 56719890 C T ZSCAN5C Nonsynonymous SNV T271I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.639 184379 chr1 94639993 94639993 T C rs750287257 ARHGAP29 Nonsynonymous SNV D1009G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.3 184380 chr1 9667678 9667678 G A rs576755922 TMEM201 Synonymous SNV P408P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.598 184381 chr2 198571803 198571803 T C MARS2 Synonymous SNV Y558Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 184382 chr17 3725309 3725309 C T NCBP3 Synonymous SNV Q278Q 0 0 0.003 3 0 0 0.008 1 0 0 0 0 12.94 184383 chr2 31414264 31414264 C A rs768563418 CAPN14 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 184384 chr2 33500128 33500128 T C rs144262053 LTBP1 Nonsynonymous SNV M621T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 184385 chr2 20403963 20403963 G C rs745821873 SDC1 Nonsynonymous SNV P80A 0 0 0.003 0 0 0 0 1 0 0 0 0 18 184386 chr2 3596658 3596658 G A rs1057517675 RNASEH1 Nonsynonymous SNV A159V 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 34 184387 chr19 625254 625254 C G rs576840960 POLRMT Nonsynonymous SNV G275R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 184388 chr11 8014567 8014567 G A rs189875301 EIF3F Nonsynonymous SNV V217I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 184389 chr20 18790493 18790493 A G rs566133535 C20orf78 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.038 184390 chr2 207173339 207173339 A G ZDBF2 Nonsynonymous SNV S1363G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 184391 chr1 3699324 3699324 G A rs140553112 LRRC47 Synonymous SNV Y438Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.606 184392 chr19 34292194 34292194 C T rs748268783 KCTD15 Synonymous SNV G63G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 184393 chr20 19956419 19956419 G C RIN2 Nonsynonymous SNV E584Q 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 184394 chr19 3546382 3546382 G A rs183177944 MFSD12 Synonymous SNV A346A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.545 184395 chr11 9875199 9875199 A T rs146868794 SBF2 Nonsynonymous SNV N808K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.726 184396 chr1 39466726 39466726 T C rs138016362 AKIRIN1 Synonymous SNV Y148Y 0.003 0.008 0.003 3 3 3 0.008 1 0 0 0 0 4.053 184397 chr2 46607493 46607493 A C EPAS1 Nonsynonymous SNV Q561P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.3 184398 chr2 46607499 46607499 G A EPAS1 Nonsynonymous SNV C563Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.99 184399 chr2 46819613 46819613 C T PIGF 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.3 184400 chr2 216990721 216990721 C T XRCC5 Synonymous SNV S255S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 184401 chr1 197030087 197030087 C T rs17514253 F13B Synonymous SNV K190K 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 8.245 184402 chr20 2778659 2778659 A T rs776498170 CPXM1 Nonsynonymous SNV S212R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 184403 chr2 219507558 219507558 G A ZNF142 Synonymous SNV R1227R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.296 184404 chr20 31375195 31375195 G T rs61758433 DNMT3B Nonsynonymous SNV G122W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.7 184405 chr19 8999447 8999447 G A rs796455905 MUC16 Synonymous SNV H13576H 0.007 0.008 0 0 8 3 0 0 0 0 0 0 0.014 184406 chr2 220101855 220101855 A G rs142350544 GLB1L Nonsynonymous SNV I545T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.118 184407 chr19 37905073 37905073 C G rs144008113 ZNF569 Nonsynonymous SNV E4Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.744 184408 chr17 40735592 40735592 C T rs534004137 RETREG3 Nonsynonymous SNV R245H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 184409 chr1 201288980 201288980 T C PKP1 Synonymous SNV V423V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 184410 chr11 31312325 31312325 T C rs148157215 DCDC1 Nonsynonymous SNV K277E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 184411 chr2 227946863 227946863 G A rs371066387 COL4A4 Nonsynonymous SNV A555V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 184412 chr11 32954650 32954650 T C QSER1 Nonsynonymous SNV S616P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.764 184413 chr1 204228406 204228406 G A rs761871488 PLEKHA6 Synonymous SNV P329P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.635 184414 chr2 74687355 74687355 C G WBP1 Synonymous SNV L119L 0.003 0 0 0 4 0 0 0 0 0 0 0 2.402 184415 chr20 37161494 37161494 G T rs147786820 RALGAPB Nonsynonymous SNV R746I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.4 184416 chr1 55224667 55224667 C A rs982938159 PARS2 Synonymous SNV V56V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 184417 chr2 232325565 232325565 T G rs61750852 NCL Nonsynonymous SNV E209A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.1 184418 chr2 233322294 233322294 G A rs758457956 ALPI Nonsynonymous SNV R223H 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 184419 chr2 233323595 233323595 G A rs778436684 ALPI Synonymous SNV A442A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.725 184420 chr2 84756272 84756272 A G DNAH6 Nonsynonymous SNV Y215C 0.001 0 0 0 1 0 0 0 0 0 0 0 27 184421 chr1 205628515 205628515 C T rs762202564 SLC45A3 Synonymous SNV Q503Q 0.003 0 0 0 4 0 0 0 0 0 0 0 11.08 184422 chr1 205687510 205687510 C T rs146969126 NUCKS1 Synonymous SNV E210E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.67 184423 chr1 206646576 206646576 G C IKBKE Nonsynonymous SNV Q2H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 184424 chr1 6008294 6008294 G A rs765113652 NPHP4 Synonymous SNV D276D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.398 184425 chr2 88405855 88405855 A G SMYD1 Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.729 184426 chr11 47283519 47283519 T C NR1H3 Nonsynonymous SNV I208T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 184427 chr19 40901810 40901810 G A rs147441856 PRX Nonsynonymous SNV R817C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 24 184428 chr2 95843345 95843345 G T rs755355546 ZNF2 Nonsynonymous SNV V9L 0.004 0 0 0 5 0 0 0 0 0 0 0 10.82 184429 chr2 96798340 96798340 G A rs375008194 ASTL Synonymous SNV H192H 0.004 0 0 0 5 0 0 0 0 0 0 0 2.089 184430 chr2 239053601 239053601 G A rs765339660 KLHL30 Synonymous SNV A322A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 184431 chr17 47302366 47302366 C T rs767833247 PHOSPHO1 Nonsynonymous SNV D41N 0 0 0 1 0 0 0.003 0 0 0 0 0 24 184432 chr1 1007448 1007448 G T rs540345782 RNF223 Nonsynonymous SNV P167T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.431 184433 chr1 101339928 101339928 C A rs751049020 EXTL2 Nonsynonymous SNV G188V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.2 184434 chr1 2124297 2124297 T A rs933631281 FAAP20 X196C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.452 184435 chr10 105200168 105200168 G A PDCD11 Nonsynonymous SNV A1424T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.221 184436 chr1 65858296 65858296 C G rs377495314 DNAJC6 Nonsynonymous SNV P551A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.375 184437 chr20 50400984 50400984 C A rs765095328 SALL4 Synonymous SNV G557G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.85 184438 chr10 106153204 106153204 C T rs138726534 CFAP58 Stop gain R549X 0.001 0 0 0 1 0 0 0 0 0 0 0 49 184439 chr17 51900487 51900487 C T rs775762338 KIF2B Synonymous SNV Y31Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.239 184440 chr2 242148922 242148922 C T rs145157097 ANO7 Nonsynonymous SNV R411W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 184441 chr1 68564475 68564475 C T rs148592645 GNG12-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.24 184442 chr19 44223205 44223205 T C rs777040854 IRGC Synonymous SNV F165F 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.189 184443 chr10 115535618 115535618 C T rs118170787 PLEKHS1 Nonsynonymous SNV R260W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 184444 chr11 62294377 62294377 T G rs189737544 AHNAK Synonymous SNV P2504P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Likely benign 3.9 184445 chr1 223178811 223178811 C T DISP1 Nonsynonymous SNV H1358Y 0.002 0 0 0 2 0 0 0 0 0 0 0 18.11 184446 chr11 63233800 63233800 G A rs199633774 PLAAT5 Nonsynonymous SNV R177W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 184447 chr2 32740513 32740513 G T BIRC6 Nonsynonymous SNV K3675N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.352 184448 chr10 127477544 127477544 C T rs780837512 UROS Nonsynonymous SNV A204T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.9 184449 chr10 127727934 127727934 C T rs771056958 ADAM12 Synonymous SNV V723V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 184450 chr2 37321297 37321297 A C GPATCH11 Nonsynonymous SNV K98Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 184451 chr10 131506171 131506171 C A MGMT Synonymous SNV V46V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.561 184452 chr11 64802622 64802622 G A rs780682677 SNX15 Nonsynonymous SNV R155Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.735 184453 chr17 6718542 6718542 G A rs148656021 TEKT1 Nonsynonymous SNV S190L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.8 184454 chr1 228522596 228522596 T C rs777102411 OBSCN Nonsynonymous SNV F5390L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.33 184455 chr11 65348718 65348718 C A rs928799438 EHBP1L1 Nonsynonymous SNV A247D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 184456 chr10 134726740 134726740 G A rs772062327 CFAP46 Nonsynonymous SNV R715W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 184457 chr20 62325822 62325822 G A rs187238540 RTEL1 Synonymous SNV S807S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.646 184458 chr2 54482989 54482989 C G rs6740641 TSPYL6 Synonymous SNV A100A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.26 184459 chr2 54483110 54483110 G A rs6743719 TSPYL6 Nonsynonymous SNV A60V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 4.617 184460 chr11 65810439 65810439 T C rs764714049 GAL3ST3 Nonsynonymous SNV I279V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 184461 chr1 151315825 151315825 A G rs149605765 RFX5 Nonsynonymous SNV L284P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 1.212 184462 chr11 67942530 67942530 A G rs780848171 KMT5B Synonymous SNV Y143Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.159 184463 chr11 68748414 68748414 G T rs143553828 MRGPRD Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.741 184464 chr17 7318294 7318294 C T rs781335217 NLGN2 Synonymous SNV I288I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 184465 chr11 69514069 69514069 G A rs776547468 FGF19 Synonymous SNV T204T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 184466 chr3 132416112 132416112 T C rs374742856 NPHP3 Nonsynonymous SNV K694E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 16.15 184467 chr1 237619934 237619934 G A rs201600087 RYR2 Nonsynonymous SNV R504H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 24.6 184468 chr2 71789065 71789065 G A rs757613811 DYSF Synonymous SNV L768L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.953 184469 chr21 34924883 34924883 T A rs1012673653 SON Nonsynonymous SNV S1116T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.4 184470 chr3 134851722 134851722 T C rs758836944 EPHB1 Synonymous SNV N376N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.411 184471 chr1 155028886 155028886 G A rs375695343 ADAM15 Synonymous SNV T323T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.91 184472 chr2 74479412 74479412 T C rs758246155 SLC4A5 Nonsynonymous SNV S458G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 184473 chr2 74479413 74479413 G A rs777521406 SLC4A5 Synonymous SNV G457G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.18 184474 chr11 76371829 76371829 G A rs780327997 LRRC32 Synonymous SNV L160L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.169 184475 chr2 85981731 85981731 C G rs758321372 ATOH8 Nonsynonymous SNV P140R 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 17.72 184476 chr2 86308023 86308023 A C POLR1A Nonsynonymous SNV D334E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 184477 chr2 86385812 86385812 T C rs2228352 IMMT Synonymous SNV V354V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 10.25 184478 chr2 86389114 86389114 G A rs35233009 IMMT Nonsynonymous SNV A293V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 23 184479 chr11 77936215 77936215 C T rs74817689 GAB2 Nonsynonymous SNV R376H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 184480 chr1 247769159 247769159 C T rs147947949 OR2G3 Nonsynonymous SNV T91M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 184481 chr20 3128466 3128466 A C FASTKD5 Synonymous SNV S417S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 184482 chr19 51509966 51509966 G A rs201756678 KLK9 Nonsynonymous SNV R72C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 184483 chr1 156821846 156821846 G A rs148794008 INSRR Synonymous SNV L259L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 3.324 184484 chr1 158064760 158064760 C T rs371490032 KIRREL1 Synonymous SNV Y608Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.823 184485 chr3 101395719 101395719 G A rs546775763 ZBTB11 Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 184486 chr3 10142911 10142911 C T FANCD2 Stop gain Q1441X 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 184487 chr3 10142912 10142912 A T FANCD2 Nonsynonymous SNV Q1441L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.615 184488 chr3 10280460 10280460 A G rs12486661 IRAK2 Nonsynonymous SNV E501G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 184489 chr3 10327522 10327522 C T rs771269632 GHRLOS 0 0 0.003 0 0 0 0 1 0 0 0 0 7.678 184490 chr17 7750966 7750966 G A rs766414287 KDM6B Nonsynonymous SNV A454T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.46 184491 chr20 3236738 3236738 C T rs780158228 C20orf194 Nonsynonymous SNV G1059R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 184492 chr11 93412713 93412713 G C rs993893733 CEP295 Nonsynonymous SNV A254P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 184493 chr11 93754705 93754705 G A rs754218205 HEPHL1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 184494 chr3 109031444 109031444 G A rs147343553 DPPA2 Synonymous SNV S43S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 184495 chr3 10976883 10976883 G A SLC6A11 Nonsynonymous SNV E582K 0 0 0.003 0 0 0 0 1 0 0 0 0 22 184496 chr1 159273825 159273825 A T rs145202898 FCER1A Nonsynonymous SNV T62S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.352 184497 chr20 37353602 37353602 G T SLC32A1 Nonsynonymous SNV V79F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.781 184498 chr17 78914396 78914396 A T rs956178301 RPTOR Nonsynonymous SNV Q849L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.65 184499 chr3 112358229 112358229 A G rs530232893 CCDC80 Nonsynonymous SNV V175A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 184500 chr11 64825563 64825563 G A rs371689981 NAALADL1 Synonymous SNV N115N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.158 184501 chr11 102991434 102991434 C T rs369614706 DYNC2H1 Nonsynonymous SNV A384V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 184502 chr1 161018028 161018028 A G rs200666764 ARHGAP30 Nonsynonymous SNV L751P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 184503 chr1 2702519 2702519 C T rs577501461 TTC34 Nonsynonymous SNV E642K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 184504 chr1 27099886 27099886 G A rs150797909 ARID1A Synonymous SNV G1255G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 1.471 184505 chr3 183006918 183006918 A G rs3732602 MCF2L2 Nonsynonymous SNV F589S 0.007 0.005 0.024 4 8 2 0.01 7 0 0 1 0 0.009 184506 chr22 17990920 17990920 A C rs372506978 CECR2 Nonsynonymous SNV K153Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.92 184507 chr17 80332967 80332967 C A rs777790136 UTS2R Nonsynonymous SNV A256E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 184508 chr22 18028778 18028778 T C CECR2 Synonymous SNV A1103A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.642 184509 chr1 16458645 16458645 C T rs145592908 EPHA2 Nonsynonymous SNV V693I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 184510 chr11 2591983 2591983 C T rs146190510 KCNQ1 Synonymous SNV I201I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.44 184511 chr11 66240780 66240780 C T rs759229853 PELI3 Synonymous SNV A68A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 184512 chr20 47253124 47253124 G A rs149034868 PREX1 Synonymous SNV Y1348Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 5.458 184513 chr19 54678066 54678066 A C MBOAT7 Nonsynonymous SNV L291R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.5 184514 chr11 66610475 66610475 G T C11orf80 Stop gain E469X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 184515 chr11 113194068 113194068 G A rs200703601 TTC12 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.435 184516 chr3 123166577 123166577 G T rs199689389 ADCY5 Synonymous SNV A272A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.034 184517 chr11 113711324 113711324 A G rs146991041 USP28 Nonsynonymous SNV I52T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 184518 chr22 21988826 21988826 C T rs757115953 CCDC116 Synonymous SNV N196N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.019 184519 chr11 117222579 117222579 G A rs148916200 CEP164 Nonsynonymous SNV E90K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 184520 chr3 126070823 126070823 C T rs202091653 KLF15 Nonsynonymous SNV A315T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 184521 chr11 118514529 118514529 C A rs140134120 PHLDB1 Synonymous SNV S916S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 184522 chr1 38027273 38027273 C T rs745761540 DNALI1 Synonymous SNV S171S 0.006 0.003 0 2 7 1 0.005 0 1 0 0 0 16.79 184523 chr11 119031802 119031802 A C rs147493505 ABCG4 Nonsynonymous SNV K643Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 184524 chr1 40928212 40928212 T A ZFP69B Nonsynonymous SNV L186M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 184525 chr3 195516403 195516403 G A rs199528786 MUC4 Nonsynonymous SNV P683L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.322 184526 chr3 133371423 133371423 C T rs199552139 TOPBP1 Nonsynonymous SNV V320I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 184527 chr11 123810492 123810492 A C rs77776318 OR4D5 Nonsynonymous SNV T57P 0.008 0.003 0 2 9 1 0.005 0 0 0 0 0 23.9 184528 chr3 134323012 134323012 C T rs376145121 KY Synonymous SNV K449K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.827 184529 chr20 61288098 61288098 G A rs770352620 SLCO4A1 Nonsynonymous SNV V98I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.72 184530 chr1 179561891 179561891 C A rs137857943 TDRD5 Synonymous SNV I47I 0 0.005 0 0 0 2 0 0 0 0 0 0 18.24 184531 chr1 46035599 46035599 C T rs145543542 AKR1A1 Nonsynonymous SNV P317S 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 24 184532 chr11 124440241 124440241 G A rs61756691 OR8A1 Nonsynonymous SNV V76I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.74 184533 chr11 85576263 85576263 - A CCDC83 0.001 0 0 0 1 0 0 0 0 0 0 0 184534 chr1 181685258 181685258 C G rs114088252 CACNA1E Synonymous SNV S436S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.006 184535 chr1 181702679 181702679 G A rs547399351 CACNA1E Nonsynonymous SNV V1000M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 184536 chr1 47046266 47046266 T G rs148444989 MKNK1 Nonsynonymous SNV E45A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 22.8 184537 chr1 182443489 182443489 A T rs35418081 RGSL1 Nonsynonymous SNV N415Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.8 184538 chr1 182458122 182458122 A G rs185515887 RGSL1 Nonsynonymous SNV N501S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 184539 chr1 182496791 182496791 T G rs112168593 RGSL1 Nonsynonymous SNV I670S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 184540 chr18 46645157 46645157 C T rs138427861 DYM Nonsynonymous SNV R567Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 29.3 184541 chr1 182555276 182555276 C T rs141997272 RNASEL Synonymous SNV T222T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 184542 chr1 182569445 182569445 G A rs61731098 RGS16 Synonymous SNV D197D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.414 184543 chr1 182856315 182856315 G A rs371535745 DHX9 Nonsynonymous SNV G1187S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.048 184544 chr18 50432571 50432571 G A rs201360801 DCC Synonymous SNV V190V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.07 184545 chr3 15115896 15115896 C G RBSN Nonsynonymous SNV S583T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 184546 chr3 15115897 15115897 T G RBSN Nonsynonymous SNV S583R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 184547 chr1 53320275 53320275 C T rs761367794 ZYG11A Stop gain R77X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 184548 chr3 38962702 38962702 G A rs36084747 SCN11A Synonymous SNV L253L 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 Benign 10.68 184549 chr3 39107361 39107361 C G rs9840872 WDR48 Synonymous SNV L83L 0.004 0 0.003 5 5 0 0.013 1 0 0 0 0 13.04 184550 chr18 55362430 55362430 A T rs150860808 ATP8B1 Nonsynonymous SNV F305I 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.043 184551 chr11 129751621 129751621 C T NFRKB 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 184552 chr3 39184702 39184702 G T rs34628941 CSRNP1 Synonymous SNV P558P 0.003 0 0.003 5 4 0 0.013 1 0 0 0 0 0.041 184553 chr11 7642183 7642183 C G rs150433585 PPFIBP2 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 184554 chr11 7650699 7650699 A G rs75896733 PPFIBP2 Nonsynonymous SNV I157V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 184555 chr1 186276014 186276061 CTGCACCCACCACTCCCAAGGAGCCTGCACCCACCACCACCAAGGAGC - PRG4 P275_T290del 0 0.003 0 0 0 1 0 0 0 0 0 0 184556 chr11 8642003 8642003 T C rs150122555 TRIM66 Nonsynonymous SNV Y1045C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.358 184557 chr3 4358756 4358756 T C rs60258210 SETMAR Synonymous SNV F339F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.694 184558 chr21 32119357 32119357 G A KRTAP21-2 Nonsynonymous SNV S55F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 184559 chr11 107904575 107904575 G A rs373067331 CUL5 Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 184560 chr18 66504176 66504176 C G rs200610500 CCDC102B Nonsynonymous SNV A59G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.433 184561 chr11 113699946 113699946 G A rs567826057 USP28 Synonymous SNV S11S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.63 184562 chr3 184008593 184008593 C T rs140450578 ECE2, EEF1AKMT4-ECE2 Synonymous SNV F564F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 184563 chr3 184071108 184071108 C G rs568335048 CLCN2 Nonsynonymous SNV R609T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.263 184564 chr3 184971025 184971026 AA - MIR5588 0 0 0.007 0 0 0 0 2 0 0 0 0 184565 chr22 47103853 47103853 C T rs981466877 CERK Nonsynonymous SNV S201N 0.003 0 0 5 3 0 0.013 0 0 0 0 0 23.1 184566 chr1 6639538 6639538 A G rs138780518 TAS1R1 Nonsynonymous SNV Y553C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 184567 chr12 7559359 7559359 C T rs77463173 CD163L1 Nonsynonymous SNV V296I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.11 184568 chr19 8197898 8197898 G A FBN3 Synonymous SNV L562L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.167 184569 chr3 48456431 48456431 A G rs145614428 PLXNB1 Nonsynonymous SNV V1329A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.67 184570 chr3 48506241 48506241 G A rs765650313 ATRIP Synonymous SNV A662A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.48 184571 chr1 67635211 67635211 G A rs76575803 IL23R Nonsynonymous SNV R86Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.619 184572 chr3 49019152 49019152 G A rs143568355 ARIH2 Nonsynonymous SNV G448E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.59 184573 chr22 50656170 50656170 C T rs148008115 TUBGCP6 Nonsynonymous SNV A1819T 0.003 0 0.003 4 3 0 0.01 1 0 0 0 0 16.33 184574 chr3 49760875 49760875 T G rs145671483 GMPPB Nonsynonymous SNV S54R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 27 184575 chr11 123479372 123479372 G A rs200540342 GRAMD1B Nonsynonymous SNV V324I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 184576 chr3 194117564 194117564 G A GP5 Nonsynonymous SNV A483V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.581 184577 chr3 194117583 194117583 C A GP5 Nonsynonymous SNV G477C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 184578 chr21 45079578 45079578 A G rs376582378 RRP1B Synonymous SNV Q11Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.771 184579 chr11 34489838 34489838 C T rs769313918 CAT Nonsynonymous SNV R444W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 184580 chr1 207265108 207265108 C A rs142909654 C4BPB Synonymous SNV R118R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.4 184581 chr21 45928657 45928657 G A rs374485000 TSPEAR-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.928 184582 chr19 10434207 10434207 G A rs377411099 RAVER1 Synonymous SNV F264F 0 0 0 2 0 0 0.005 0 0 0 0 0 11.07 184583 chr3 20027602 20027602 G - rs763242514 PP2D1 T388Kfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 184584 chr3 27436595 27436595 T C rs148520298 SLC4A7 Synonymous SNV P777P 0 0 0.007 2 0 0 0.005 2 0 0 0 0 2.137 184585 chr3 27763350 27763350 G A rs200215171 EOMES Nonsynonymous SNV L146F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 184586 chr1 86591032 86591032 G A rs144766080 COL24A1 Synonymous SNV N329N 0.005 0 0 0 6 0 0 0 0 0 0 0 4.329 184587 chr12 12871170 12871170 C A rs137985549 CDKN1B Nonsynonymous SNV P133T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.95 184588 chr21 47611103 47611103 G A rs746562872 LSS Nonsynonymous SNV T625M 0.003 0 0 0 3 0 0 0 0 0 0 0 27.9 184589 chr1 214510115 214510115 T G rs11120301 SMYD2 Nonsynonymous SNV I430M 0.003 0.003 0.003 0 4 1 0 1 1 0 0 0 0.003 184590 chr12 15784598 15784598 T G rs200844984 EPS8 Nonsynonymous SNV K608Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 184591 chr21 47783487 47783487 A C rs202246527 PCNT Nonsynonymous SNV E631D 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 15.14 184592 chr3 38159084 38159084 C T rs997093442 DLEC1 Synonymous SNV P1492P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 184593 chr1 89654427 89654427 T C rs150651435 GBP4 Synonymous SNV A416A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.89 184594 chr3 39108293 39108293 G A rs778879062 WDR48 Synonymous SNV G54G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 184595 chr3 87289909 87289909 G A rs374428152 CHMP2B Nonsynonymous SNV R32Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 184596 chr3 424224 424224 A G rs372108880 CHL1 Synonymous SNV Q682Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.678 184597 chr3 42569593 42569593 C T rs115435479 VIPR1 Nonsynonymous SNV S157L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 1.586 184598 chr1 222818962 222818962 G A rs768210115 MIA3 Nonsynonymous SNV V60I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.54 184599 chr3 42751241 42751241 C A rs73829276 CCDC13 Nonsynonymous SNV K641N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 184600 chr3 42777369 42777369 G A rs58970917 CCDC13 Synonymous SNV L401L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.048 184601 chr1 223990041 223990041 T C rs903870338 TP53BP2 Synonymous SNV S334S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.258 184602 chr1 225231637 225231637 T - rs569001107 DNAH14 S623Qfs*2 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 184603 chr3 43121794 43121794 T C rs369583405 POMGNT2 Nonsynonymous SNV Y377C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 184604 chr3 99567611 99567611 T C rs200033744 FILIP1L Nonsynonymous SNV E730G 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 23 184605 chr1 94685949 94685949 C T ARHGAP29 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 184606 chr2 128339484 128339485 CG - MYO7B R367Gfs*26 0.001 0.003 0 0 1 1 0 0 0 0 0 0 184607 chr4 10445427 10445427 A T rs7694496 ZNF518B Synonymous SNV P842P 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 0.008 184608 chr4 10447679 10447679 C T rs10007352 ZNF518B Nonsynonymous SNV G92S 0.007 0.005 0.003 4 8 2 0.01 1 0 0 0 0 9.396 184609 chr4 10447848 10447848 T G rs10021506 ZNF518B Synonymous SNV P35P 0.007 0.005 0.007 4 8 2 0.01 2 0 0 0 0 2.211 184610 chr3 46754460 46754460 G A rs114550038 PRSS50 Synonymous SNV P284P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.331 184611 chr3 46775361 46775361 G A rs72897491 PRSS46P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 184612 chr3 46775583 46775583 C T rs73833619 PRSS46P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.364 184613 chr3 46786162 46786162 C T rs79958632 PRSS45P 0 0 0.003 0 0 0 0 1 0 0 0 0 37 184614 chr2 151343209 151343209 C T rs149567484 RND3 Synonymous SNV S79S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 21.9 184615 chr2 152369326 152369326 A G rs201767727 NEB Nonsynonymous SNV M6055T 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 184616 chr3 48465017 48465017 C T rs765174256 PLXNB1 Nonsynonymous SNV R335H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 184617 chr1 231337208 231337208 C A TRIM67 Nonsynonymous SNV S493R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 184618 chr3 48614331 48614331 C T rs17080261 COL7A1 Nonsynonymous SNV A1864T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 17.43 184619 chr3 49394853 49394853 C T rs6446261 GPX1 Nonsynonymous SNV A148T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.87 184620 chr3 49395698 49395698 C G rs8179169 GPX1 Nonsynonymous SNV R5P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20.7 184621 chr3 49845526 49845526 T C rs2230149 UBA7 Nonsynonymous SNV H817R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25.7 184622 chr22 31489821 31489821 C T rs542819592 SMTN Nonsynonymous SNV R616C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.76 184623 chr1 11875953 11875953 G T CLCN6 Nonsynonymous SNV E66D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 184624 chr1 120266007 120266007 A G rs753809125 PHGDH Nonsynonymous SNV N100S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 184625 chr1 1222528 1222528 A T rs140150794 SCNN1D Nonsynonymous SNV T387S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.001 184626 chr22 32439299 32439299 A G SLC5A1 Nonsynonymous SNV T11A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.01 184627 chr3 52257891 52257891 G T rs116310431 TLR9 Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.866 184628 chr12 11214264 11214264 C G rs374212046 TAS2R46 Nonsynonymous SNV Q210H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.39 184629 chr12 11214273 11214273 T C rs377505981 TAS2R46 Synonymous SNV K207K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 184630 chr12 11214299 11214299 T C rs376020270 TAS2R46 Nonsynonymous SNV I199V 0.004 0 0 0 5 0 0 0 0 0 0 0 2.412 184631 chr3 52394028 52394028 G A rs17052095 DNAH1 Nonsynonymous SNV V1502M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 33 184632 chr3 52402778 52402778 G A rs61738524 DNAH1 Synonymous SNV S1929S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.86 184633 chr3 52404532 52404532 G A rs748734983 DNAH1 Nonsynonymous SNV V2100I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.726 184634 chr3 52404835 52404835 C T rs777504039 DNAH1 Synonymous SNV Y2173Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.443 184635 chr22 32650181 32650181 C T rs769851672 SLC5A4 Nonsynonymous SNV R52Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 184636 chr3 52437258 52437258 T C rs79014342 BAP1 Nonsynonymous SNV S596G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.294 184637 chr3 52475596 52475596 A G rs79229078 SEMA3G Synonymous SNV L221L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.552 184638 chr3 52507800 52507800 C T rs61134406 NISCH Synonymous SNV P240P 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 11.55 184639 chr3 52510540 52510540 C T rs60805368 NISCH Synonymous SNV A281A 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 19.15 184640 chr3 52548136 52548136 T C rs74491782 STAB1 Synonymous SNV H1151H 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 0.003 184641 chr4 141622728 141622728 G C TBC1D9 Nonsynonymous SNV S57R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 184642 chr20 2777917 2777917 G A rs147696702 CPXM1 Synonymous SNV F251F 0.005 0.005 0.01 0 6 2 0 3 0 0 0 0 11.06 184643 chr3 52727511 52727511 C T rs1344932 GNL3 Synonymous SNV S425S 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 11.52 184644 chr3 52780197 52780197 A T rs6803865 NEK4 Synonymous SNV P480P 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 0.031 184645 chr3 52812027 52812027 G A rs72960294 ITIH1 Synonymous SNV V44V 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 11.7 184646 chr3 52840131 52840131 C T rs60805548 ITIH3 Nonsynonymous SNV P640L 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 14.87 184647 chr3 52840325 52840325 C T rs34397833 ITIH3 Synonymous SNV H653H 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 8.707 184648 chr1 241936156 241936156 G C rs376125686 WDR64 Nonsynonymous SNV A785P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.512 184649 chr20 31024918 31024918 C G rs763919568 ASXL1 Nonsynonymous SNV A1407G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 184650 chr3 53155720 53155720 C T rs35221142 RFT1 Nonsynonymous SNV A185T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 26.8 184651 chr4 154504740 154504740 G A rs35565709 TMEM131L Nonsynonymous SNV D326N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.59 184652 chr2 170387886 170387886 G C rs34291832 FASTKD1 Stop gain S702X 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 44 184653 chr1 244218313 244218313 G A rs140492097 ZBTB18 Nonsynonymous SNV A404T 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Likely benign 14.59 184654 chr3 54913073 54913073 C T rs376151290 CACNA2D3 Nonsynonymous SNV T580M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 184655 chr1 246784837 246784837 G C rs779003295 CNST Nonsynonymous SNV Q162H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.852 184656 chr20 3556558 3556558 A G rs747209194 ATRN Nonsynonymous SNV H610R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.11 184657 chr3 66431089 66431089 G A rs202191007 LRIG1 Synonymous SNV P989P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.387 184658 chr22 42052998 42052998 G A rs147467039 XRCC6 Synonymous SNV K411K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.78 184659 chr12 55945913 55945913 C T rs139790427 OR6C4 Synonymous SNV D301D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.105 184660 chr3 67570959 67570959 C A rs757799757 SUCLG2 Nonsynonymous SNV G173W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 184661 chr2 179422669 179422669 G T rs72648227 TTN Nonsynonymous SNV P20073T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.05 184662 chr2 179455697 179455697 A G rs752999797 TTN Nonsynonymous SNV I11187T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.77 184663 chr2 179517632 179517632 G A rs192528655 TTN Nonsynonymous SNV P12968S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 184664 chr12 58152351 58152351 A C rs138740542 MARCHF9 Nonsynonymous SNV I238L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.8 184665 chr3 99643134 99643134 T A rs372255083 FILIP1L Nonsynonymous SNV H182L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 184666 chr12 63042384 63042384 C T rs540042623 PPM1H Nonsynonymous SNV R477H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 184667 chr1 156551783 156551783 G A TTC24 Synonymous SNV R209R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.852 184668 chr12 66553944 66553944 C G rs201461337 TMBIM4 0.001 0 0 0 1 0 0 0 0 0 0 0 0.288 184669 chr4 100844226 100844226 T C rs61741259 DNAJB14 Nonsynonymous SNV H74R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 184670 chr20 44986336 44986336 A T rs934721458 SLC35C2 Nonsynonymous SNV L66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 184671 chr12 49166116 49166116 C G ADCY6 Nonsynonymous SNV E917Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 184672 chr12 49176909 49176909 C T ADCY6 Synonymous SNV T103T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.962 184673 chr4 1050782 1050782 G C RNF212 Nonsynonymous SNV L220V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.53 184674 chr20 47632887 47632887 A T ARFGEF2 Nonsynonymous SNV Y1417F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 184675 chr2 100050866 100050866 G C rs753869271 REV1 Nonsynonymous SNV P456A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 184676 chr12 52370220 52370220 T C rs1002221715 ACVR1B Synonymous SNV L147L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.483 184677 chr12 95604877 95604877 G C rs533635767 FGD6 Synonymous SNV T61T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 184678 chr20 56285364 56285364 C A NKILA 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 184679 chr4 3449943 3449943 C T rs145807550 HGFAC Synonymous SNV A575A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 18.54 184680 chr12 52967435 52967435 C T rs147395404 KRT74 Nonsynonymous SNV A43T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.51 184681 chr1 33837947 33837947 C T rs758291648 PHC2 Synonymous SNV A92A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 184682 chr12 103245476 103245476 G T rs1057520732 PAH Nonsynonymous SNV Q301K 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24.9 184683 chr12 104044330 104044330 A G rs141504093 STAB2 Nonsynonymous SNV T411A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 184684 chr12 53166652 53166652 G A rs771208701 KRT76 Nonsynonymous SNV A296V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 184685 chr1 37949143 37949143 A T ZC3H12A Synonymous SNV P577P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 184686 chr12 108145261 108145261 C T PRDM4 Nonsynonymous SNV V353I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 184687 chr1 38281009 38281009 T C rs772651372 MTF1 Synonymous SNV S687S 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 0.007 184688 chr4 144336903 144336903 G A GAB1 Nonsynonymous SNV G116R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 184689 chr20 60989376 60989376 G A rs772462133 RBBP8NL Nonsynonymous SNV A344V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.256 184690 chr12 109520701 109520701 C A rs139278674 USP30 Synonymous SNV G334G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 184691 chr4 148984317 148984317 G A rs200687367 ARHGAP10 Synonymous SNV S682S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.578 184692 chr4 15003310 15003310 G T rs73797781 CPEB2-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 2.582 184693 chr12 109650680 109650680 C T rs778538004 ACACB Nonsynonymous SNV R1097W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 184694 chr1 165721403 165721403 G A rs201213306 TMCO1 Stop gain R104X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 46 184695 chr1 166961995 166961995 G A rs113109340 MAEL Nonsynonymous SNV R102H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.8 184696 chr1 167825519 167825519 G A rs758043012 ADCY10 Synonymous SNV A532A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 184697 chr12 110815310 110815310 G A rs140917138 ANAPC7 Synonymous SNV T449T 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 13.57 184698 chr4 15689759 15689759 C T rs188407400 FAM200B Nonsynonymous SNV R387C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 184699 chr20 62324183 62324183 C T rs141717966 RTEL1 Nonsynonymous SNV T670M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.733 184700 chr2 219292701 219292701 G T rs141790251 VIL1 Nonsynonymous SNV G121C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.5 184701 chr4 159631800 159631800 C T rs17843956 PPID Nonsynonymous SNV G335E 0.003 0 0.007 2 4 0 0.005 2 1 0 0 0 17.83 184702 chr4 57173735 57173735 G A rs201101039 CRACD Nonsynonymous SNV R52Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.9 184703 chr2 219529162 219529162 C T rs140256402 RNF25 Nonsynonymous SNV V300I 0.003 0.008 0 0 4 3 0 0 0 0 0 0 7.745 184704 chr1 46088238 46088238 C A rs370168351 CCDC17 Nonsynonymous SNV R281L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 184705 chr2 220435189 220435191 AGA - rs765879230 OBSL1 F255del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 184706 chr4 177650876 177650876 C T rs200219952 VEGFC Nonsynonymous SNV E58K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 184707 chr11 92564803 92564803 T C FAT3 Nonsynonymous SNV V3166A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.4 184708 chr12 122618484 122618484 C G rs954871695 MLXIP Nonsynonymous SNV P561R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 184709 chr12 123345023 123345023 C T rs375491651 HIP1R Synonymous SNV G871G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 184710 chr4 184240734 184240734 G C rs201506772 CLDN22 Nonsynonymous SNV T213R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.194 184711 chr11 93431354 93431354 T C rs956380435 CEP295 Synonymous SNV S1092S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.604 184712 chr12 123950801 123950801 G A rs370461612 SNRNP35 Synonymous SNV G238G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.578 184713 chr19 44515074 44515074 C A rs76261208 ZNF230 Nonsynonymous SNV L295I 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 24.6 184714 chr4 186112166 186112166 T C rs910482525 CFAP97 Nonsynonymous SNV N62S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 184715 chr11 95825768 95825768 C A rs771918587 MAML2 Nonsynonymous SNV G476V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.27 184716 chr4 186423619 186423619 C T rs558471910 PDLIM3 Synonymous SNV A141A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 184717 chr2 167138287 167138287 C T rs200374987 SCN9A Nonsynonymous SNV R669H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Uncertain significance 20.1 184718 chr1 59141173 59141173 T C rs369274270 MYSM1 Synonymous SNV Q490Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.34 184719 chr12 132547068 132547068 - GCAGCA EP400 Q2748_T2749insQQ 0.005 0 0 1 6 0 0.003 0 0 0 0 0 184720 chr2 234580847 234580847 G A rs186748787 UGT1A9 Synonymous SNV E89E 0.004 0 0 0 5 0 0 0 0 0 0 0 2.73 184721 chr2 234676911 234676911 G T UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Nonsynonymous SNV G377V 0.004 0 0 0 5 0 0 0 0 0 0 0 31 184722 chr4 2695432 2695432 G A FAM193A Nonsynonymous SNV A684T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 184723 chr21 43413378 43413378 C T rs368914741 ZBTB21 Nonsynonymous SNV R276Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 184724 chr12 102047015 102047015 C T rs12146878 MYBPC1 Nonsynonymous SNV R535W 0.004 0 0.01 0 5 0 0 3 0 0 0 0 33 184725 chr13 23908027 23908027 T C SACS Nonsynonymous SNV I3183V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.86 184726 chr2 172822398 172822398 G A rs1006879819 HAT1 Nonsynonymous SNV V194M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 184727 chr21 44483064 44483064 G A rs769541394 CBS, CBSL Nonsynonymous SNV T213M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23 184728 chr2 179396015 179396015 T C rs773338663 TTN Synonymous SNV L26044L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.541 184729 chr4 39077710 39077710 A G rs757970467 KLHL5 Nonsynonymous SNV H29R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 184730 chr1 70820664 70820664 T G rs369236367 HHLA3 Synonymous SNV L10L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.755 184731 chr12 109541266 109541266 G A rs141783420 UNG Synonymous SNV T208T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.632 184732 chr12 109704119 109704119 G A rs747678757 ACACB Synonymous SNV A2443A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.722 184733 chr1 201338951 201338951 G A rs727503515 TNNT2 Synonymous SNV D30D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.001 184734 chr21 46624533 46624533 G A rs372954828 ADARB1 Synonymous SNV S543S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.98 184735 chr4 962124 962124 C A rs190556735 DGKQ Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 184736 chr1 8384531 8384531 C T SLC45A1 Stop gain R48X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 184737 chr22 19028672 19028672 G C DGCR2 Nonsynonymous SNV P391R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 184738 chr13 48547442 48547442 G C rs758906219 SUCLA2 Nonsynonymous SNV P207R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.4 184739 chr1 2075672 2075672 C G rs201398081 PRKCZ Nonsynonymous SNV S44R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.04 184740 chr19 49639144 49639144 G A rs146646449 PPFIA3 Synonymous SNV R543R 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 11.62 184741 chr4 72222861 72222861 G A rs147651604 SLC4A4 Synonymous SNV K185K 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.34 184742 chr19 50549223 50549223 T C rs760965960 ZNF473 Nonsynonymous SNV M496T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.641 184743 chr13 77459528 77459528 G A KCTD12 Synonymous SNV T252T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.38 184744 chr4 73003816 73003816 G A rs77060411 NPFFR2 Nonsynonymous SNV A232T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.6 184745 chr4 73185119 73185119 A G rs7686470 ADAMTS3 Synonymous SNV L428L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.31 184746 chr13 92346058 92346058 G A rs557632182 GPC5 Nonsynonymous SNV V315M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 184747 chr2 198051784 198051784 C T rs149690877 ANKRD44 Nonsynonymous SNV R25Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 184748 chr19 51323221 51323221 G A rs3212857 KLK1 Synonymous SNV H189H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 7.105 184749 chr22 24226981 24226981 G A rs143009100 SLC2A11 Nonsynonymous SNV G486R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.104 184750 chr1 94645475 94645475 T C rs772623100 ARHGAP29 Synonymous SNV E698E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.629 184751 chr22 25115799 25115799 G A rs61740100 PIWIL3 Synonymous SNV N816N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.336 184752 chr4 76877166 76877166 C T rs17001276 SDAD1 Nonsynonymous SNV V623I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 184753 chr2 202625680 202625680 T C rs199757764 ALS2 Nonsynonymous SNV N346S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.005 184754 chr13 20763395 20763408 CCCTTGATGAACTT - rs111033253 GJB2 K105Gfs*5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 184755 chr2 44116883 44116883 A G LRPPRC Nonsynonymous SNV I1373T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.696 184756 chr4 88235068 88235068 G C rs142648167 HSD17B13 Stop gain S165X 0 0 0.007 0 0 0 0 2 0 0 0 0 35 184757 chr22 32021800 32021800 A G rs759764933 PISD Star tloss M2del 0.001 0 0 0 1 0 0 0 0 0 0 0 8.553 184758 chr4 88731905 88731905 C G rs753917686 IBSP Nonsynonymous SNV L132V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 184759 chr1 226026456 226026456 G A rs761426131 EPHX1 Nonsynonymous SNV E156K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 184760 chr22 32480891 32480891 T C SLC5A1 Nonsynonymous SNV I170T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 184761 chr4 89300268 89300268 G A rs374207696 HERC6 Synonymous SNV L65L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.812 184762 chr22 35947746 35947746 C T rs373015554 RASD2 Synonymous SNV A156A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.66 184763 chr14 20852294 20852294 G C rs144650901 TEP1 Nonsynonymous SNV P1038R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 184764 chr1 227935692 227935692 A T rs201794905 SNAP47 Synonymous SNV P85P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 184765 chr22 37158995 37158995 G A rs112218090 IFT27 Nonsynonymous SNV R139W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 34 184766 chr19 54314134 54314134 G A rs150280940 NLRP12 Nonsynonymous SNV T260M 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 184767 chr5 148407852 148407852 G A rs146666910 SH3TC2 Synonymous SNV D481D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign/Likely benign 0.008 184768 chr22 40415994 40416000 TGGCCAC - FAM83F A255Dfs*20 0.001 0 0 1 1 0 0.003 0 0 0 0 0 184769 chr20 31583449 31583449 C T rs780772271 SUN5 Synonymous SNV Q170Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.88 184770 chr5 121355950 121355950 A C rs773474327 SRFBP1 Nonsynonymous SNV K174Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 184771 chr20 3275214 3275214 A T C20orf194 Nonsynonymous SNV S694T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 184772 chr13 52639602 52639602 C T rs145552435 NEK5 Nonsynonymous SNV V690I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.238 184773 chr1 233518296 233518296 C G MAP3K21 Nonsynonymous SNV Q984E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 184774 chr20 33874970 33874970 C T rs200282148 FAM83C Nonsynonymous SNV E538K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.79 184775 chr5 153760054 153760054 T C rs200328783 GALNT10 Synonymous SNV D267D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 184776 chr5 154282114 154282114 C A GEMIN5 Nonsynonymous SNV A950S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 184777 chr20 3541344 3541344 A G ATRN Synonymous SNV S297S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.785 184778 chr5 156533730 156533730 G A rs147827860 HAVCR2 Nonsynonymous SNV T101I 0.003 0 0.014 0 3 0 0 4 0 0 0 0 risk factor 24.4 184779 chr22 44258236 44258236 G C SULT4A1 Synonymous SNV P9P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.001 184780 chr1 236189310 236189310 G A rs202139258 NID1 Nonsynonymous SNV R624W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 184781 chr2 230654396 230654396 C T rs146874504 TRIP12 Synonymous SNV P1197P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.83 184782 chr5 159519398 159519398 A G rs765276452 PWWP2A Synonymous SNV F753F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.53 184783 chr2 232262645 232262645 C T rs199641918 B3GNT7 Nonsynonymous SNV T72M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.201 184784 chr2 233346498 233346498 C T rs142492002 ECEL1 Nonsynonymous SNV D618N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 34 184785 chr20 39991048 39991048 T C rs143512004 EMILIN3 Synonymous SNV Q387Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 184786 chr14 39819432 39819432 T A rs780208717 MIA2 Synonymous SNV P695P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.068 184787 chr2 234389928 234389928 C T rs777496755 USP40 Nonsynonymous SNV D1173N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.92 184788 chr5 172571568 172571568 T C rs534621967 BNIP1 Nonsynonymous SNV V7A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.9 184789 chr20 44582395 44582395 T A rs774592503 ZNF335 Nonsynonymous SNV T879S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.87 184790 chr5 176935334 176935334 G A rs148416579 DOK3 Synonymous SNV T92T 0.003 0.01 0 0 4 4 0 0 0 0 0 0 14.11 184791 chr20 47260957 47260957 C T rs200938863 PREX1 Synonymous SNV E1197E 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 14.06 184792 chr22 51011951 51011951 T C CPT1B Synonymous SNV G354G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 184793 chr2 239013338 239013338 A C rs111369122 ESPNL Nonsynonymous SNV Y176S 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 25.1 184794 chr13 113485816 113485816 C T rs149937585 ATP11A Nonsynonymous SNV S450L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.13 184795 chr20 48522398 48522398 C T rs757810263 SPATA2 Nonsynonymous SNV D441N 0.001 0.01 0 2 1 4 0.005 0 0 0 0 0 16.72 184796 chr2 239049718 239049718 G C rs199604026 KLHL30 Nonsynonymous SNV R108P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 184797 chr13 113814442 113814442 T A rs146864768 PROZ Nonsynonymous SNV I62N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 184798 chr13 114469204 114469204 G A rs35808106 TMEM255B Nonsynonymous SNV V55I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 184799 chr2 24056924 24056924 A G rs947564586 ATAD2B Synonymous SNV A531A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.496 184800 chr5 145894894 145894894 - T rs765445714 GPR151 Frameshift insertion W263Vfs*86 0 0 0.003 0 0 0 0 1 0 0 0 0 184801 chr14 64444649 64444649 T C rs370869872 SYNE2 Synonymous SNV H440H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.009 184802 chr1 248028066 248028066 T C TRIM58 Synonymous SNV F192F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 184803 chr12 50467840 50467840 C A ASIC1 Nonsynonymous SNV A158D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 184804 chr14 65235834 65235834 G A rs373569105 SPTB Synonymous SNV I1980I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.336 184805 chr5 149589013 149589013 G A rs17111043 SLC6A7 Synonymous SNV S582S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.169 184806 chr20 57829158 57829160 TCT - rs541205684 ZNF831 F1466del 0 0.003 0 0 0 1 0 0 0 0 0 0 184807 chr12 51237639 51237639 C T rs751297586 TMPRSS12 Nonsynonymous SNV P68S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 184808 chr5 150276324 150276324 T A ZNF300 Synonymous SNV A123A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.694 184809 chr14 69676375 69676375 C T rs766419235 EXD2 Nonsynonymous SNV S63F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.23 184810 chr5 150431799 150431799 T C rs149849584 TNIP1 Nonsynonymous SNV K164E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 23.9 184811 chr20 60706476 60706476 C T rs370488847 LSM14B Synonymous SNV P300P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.64 184812 chr5 36143370 36143370 T C rs146504133 LMBRD2 Nonsynonymous SNV K28E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.9 184813 chr20 60987767 60987767 C T rs374830561 RBBP8NL Nonsynonymous SNV G597R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.799 184814 chr5 156665173 156665173 G A rs780522355 ITK Nonsynonymous SNV V275M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 184815 chr14 75078282 75078282 C T rs775720299 LTBP2 Synonymous SNV R122R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 18.81 184816 chr5 156899672 156899672 G A rs137909022 NIPAL4 Nonsynonymous SNV V350I 0.003 0.003 0.017 0 3 1 0 5 0 0 0 0 Uncertain significance 8.15 184817 chr5 156934121 156934121 G A rs550550364 ADAM19 Synonymous SNV I311I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 184818 chr20 61296364 61296364 C T rs145175877 SLCO4A1 Synonymous SNV T400T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 184819 chr20 61464375 61464375 A G rs79269394 COL9A3 Nonsynonymous SNV I443V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.021 184820 chr5 453976 453976 G A rs199829233 EXOC3 Nonsynonymous SNV V286I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 184821 chr5 160033846 160033846 C T rs200782414 ATP10B Nonsynonymous SNV R1029H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 35 184822 chr1 27683927 27683927 C T rs371451326 MAP3K6 Synonymous SNV A1066A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 184823 chr1 28165311 28165311 A G PPP1R8 Synonymous SNV A73A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.293 184824 chr2 128408717 128408717 G C rs61749489 GPR17 Synonymous SNV P136P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.945 184825 chr20 62198395 62198395 C T rs34124776 HELZ2 Synonymous SNV P203P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.531 184826 chr5 172660452 172660452 C T NKX2-5 Nonsynonymous SNV R117Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.356 184827 chr5 175992370 175992370 T C rs114786529 CDHR2 Nonsynonymous SNV L6P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 19.76 184828 chr19 8808132 8808132 A T ACTL9 Nonsynonymous SNV V307D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.83 184829 chr20 6759508 6759508 C T rs202210529 BMP2 Synonymous SNV H321H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.063 184830 chr14 91766311 91766311 C T rs781474691 CCDC88C Nonsynonymous SNV A1247T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.05 184831 chr5 176951522 176951522 G A rs749101771 FAM193B Nonsynonymous SNV R654W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.41 184832 chr3 1415305 1415305 G A CNTN6 Nonsynonymous SNV E498K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 184833 chr5 178413656 178413656 G A rs145365816 GRM6 Synonymous SNV G533G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 184834 chr3 142561860 142561860 C T PCOLCE2 Nonsynonymous SNV R160K 0.003 0 0 0 3 0 0 0 0 0 0 0 2.873 184835 chr14 51288566 51288566 T C rs200667442 LOC105370489 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 2.85 184836 chr2 68385240 68385240 C G rs61735657 PNO1 Synonymous SNV P58P 0.006 0.003 0.007 3 7 1 0.008 2 0 0 0 0 15.4 184837 chr2 160604508 160604508 G A MARCHF7 Nonsynonymous SNV S180N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.558 184838 chr3 150690343 150690343 C A CLRN1 Synonymous SNV G51G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 184839 chr5 180335789 180335789 A - rs760188256 BTNL8 T85Qfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 184840 chr21 34011295 34011295 A T rs761637283 SYNJ1 Nonsynonymous SNV L1233M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 184841 chr5 180582278 180582278 G A rs140710127 OR2V2 Synonymous SNV E112E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.834 184842 chr2 165548758 165548758 C T rs143772614 COBLL1 Synonymous SNV S1091S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.35 184843 chr19 9089359 9089359 G C rs201182971 MUC16 Nonsynonymous SNV P819R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 184844 chr2 167141091 167141091 C T rs201338643 SCN9A Nonsynonymous SNV G616R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 23.6 184845 chr3 157160376 157160378 GAG - PTX3 E253del 0.002 0 0 0 2 0 0 0 0 0 0 0 184846 chr2 73118568 73118568 A T rs375730088 SPR Stop gain K230X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 184847 chr14 102514219 102514219 G A rs547205132 DYNC1H1 Nonsynonymous SNV A4358T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 184848 chr2 74709728 74709728 T C rs750768676 CCDC142 Synonymous SNV A79A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.132 184849 chr5 36677218 36677218 G A rs139659178 SLC1A3 Synonymous SNV G218G 0.003 0 0.017 1 4 0 0.003 5 0 0 0 0 Benign/Likely benign 1.686 184850 chr5 38493836 38493836 G T rs79040751 LIFR Nonsynonymous SNV T646N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.547 184851 chr14 104570738 104570738 G C ASPG Nonsynonymous SNV R284P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.676 184852 chr5 38917669 38917669 T A rs34324145 OSMR Nonsynonymous SNV V436D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 26.4 184853 chr5 38950761 38950761 A G rs150422546 RICTOR Synonymous SNV D1063D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 184854 chr1 10719831 10719831 T C CASZ1 Nonsynonymous SNV N423S 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 6.556 184855 chr2 179395813 179395813 C T rs55865284 TTN Nonsynonymous SNV V26112M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 22.1 184856 chr2 179399677 179399677 C T rs34924609 TTN Nonsynonymous SNV V24824I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 18.42 184857 chr2 179418415 179418415 T A rs77853750 TTN Nonsynonymous SNV I20708L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 16.73 184858 chr2 179428474 179428474 G T rs55933739 TTN Nonsynonymous SNV T18397K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 4.491 184859 chr14 105634121 105634121 G A rs113186535 JAG2 Synonymous SNV V130V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 184860 chr2 179482678 179482678 C T rs114145817 TTN Synonymous SNV K6735K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.27 184861 chr2 179486345 179486345 T A rs114331773 TTN Nonsynonymous SNV E6004V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 22.8 184862 chr2 179518794 179518794 T C TTN Synonymous SNV P12803P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.026 184863 chr2 179528788 179528788 T C rs2115557 TTN Synonymous SNV K12106K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 2.971 184864 chr3 184648315 184648315 G A rs74927619 VPS8 Nonsynonymous SNV E940K 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 Benign 34 184865 chr2 179611519 179611519 A G rs200376564 TTN Nonsynonymous SNV I5203T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 13.94 184866 chr2 179629507 179629507 G C TTN Synonymous SNV L3199L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.473 184867 chr14 77245330 77245330 C G VASH1 Nonsynonymous SNV P356R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 184868 chr3 189526161 189526161 G A TP63 Nonsynonymous SNV S48N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 184869 chr3 109050874 109050874 G A rs150993476 DPPA4 Synonymous SNV L9L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 4.615 184870 chr22 18028513 18028513 C G rs368003991 CECR2 Nonsynonymous SNV P1015R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.811 184871 chr5 71015195 71015195 C T rs748320595 CARTPT Synonymous SNV T25T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 184872 chr2 185802403 185802403 T C rs143088494 ZNF804A Synonymous SNV S760S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.148 184873 chr2 186667100 186667100 A G rs199555227 FSIP2 Nonsynonymous SNV D4356G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 184874 chr22 20103649 20103649 C T rs371028335 TRMT2A Nonsynonymous SNV V171M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 184875 chr22 21153492 21153492 C T rs149129705 PI4KA Synonymous SNV P609P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 11.45 184876 chr14 88652213 88652213 G A rs139543723 KCNK10 Nonsynonymous SNV P428L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 184877 chr6 111688681 111688681 C T rs143564017 REV3L Nonsynonymous SNV E2104K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 184878 chr14 90651075 90651075 G A rs116151862 KCNK13 Nonsynonymous SNV V319I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 184879 chr2 190618989 190618989 T C OSGEPL1 Nonsynonymous SNV Q242R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 184880 chr15 42436254 42436254 C T rs143496064 PLA2G4F Synonymous SNV P688P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.86 184881 chr1 1223363 1223363 C T rs368294602 SCNN1D Synonymous SNV A536A 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 12.6 184882 chr12 112121009 112121009 T - BRAP Q62Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 184883 chr2 197080652 197080652 C T rs762051916 HECW2 Nonsynonymous SNV R1159Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 184884 chr2 197086987 197086987 A G HECW2 Nonsynonymous SNV I1009T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 184885 chr5 86675667 86675667 C T rs138785106 RASA1 Nonsynonymous SNV P868L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 184886 chr15 45556148 45556148 G T rs113624548 SLC28A2 Nonsynonymous SNV E172D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 184887 chr2 201756987 201756987 A G NIF3L1 Synonymous SNV T107T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.571 184888 chr22 26423234 26423234 G A rs761805704 MYO18B Nonsynonymous SNV D2433N 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 0.002 184889 chr5 94939222 94939222 G A rs774384668 ARSK Nonsynonymous SNV A535T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 184890 chr3 121646661 121646661 C T rs771680786 SLC15A2 Nonsynonymous SNV A363V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 184891 chr15 52539165 52539165 G A rs56250328 MYO5C Nonsynonymous SNV T643M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 184892 chr1 150531469 150531469 G A rs143983374 ADAMTSL4 Nonsynonymous SNV R864Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 24.9 184893 chr2 204143341 204143341 G A rs773835935 CYP20A1 Nonsynonymous SNV R14Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 184894 chr1 151018277 151018277 C T rs764413830 BNIPL Nonsynonymous SNV R204W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.8 184895 chr6 132645129 132645129 G T rs758141808 MOXD1 Nonsynonymous SNV P352T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 184896 chr12 122337749 122337749 G A rs139208583 PSMD9 Nonsynonymous SNV A151T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 184897 chr2 207175207 207175207 C G rs147027026 ZDBF2 Synonymous SNV V1985V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.73 184898 chr14 101350694 101350694 C T rs774379653 RTL1 Synonymous SNV S144S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 184899 chr12 123282675 123282675 A G rs779139526 CCDC62 Nonsynonymous SNV N302S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 184900 chr12 123494527 123494527 G A rs369464703 PITPNM2 Synonymous SNV P171P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 184901 chr6 111694395 111694395 A G rs150668935 REV3L Synonymous SNV G1721G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.141 184902 chr22 31838014 31838014 G A rs150972596 EIF4ENIF1 Nonsynonymous SNV S592L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 184903 chr14 103566862 103566862 C G rs1057639 EXOC3L4 Synonymous SNV A102A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.648 184904 chr6 138752600 138752600 T C rs563286049 NHSL1 Nonsynonymous SNV Q965R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 184905 chr2 209190337 209190337 T A rs61752188 PIKFYVE Synonymous SNV I934I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.55 184906 chr15 62258287 62258287 C T rs747812804 VPS13C Nonsynonymous SNV V973I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 184907 chr6 138768221 138768221 G A rs552954031 NHSL1 Nonsynonymous SNV S150L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 184908 chr6 11201273 11201273 G A NEDD9 Stop gain Q156X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.925 184909 chr3 126154440 126154440 A C CFAP100 Nonsynonymous SNV Q556P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 184910 chr3 42680097 42680097 G A rs781731899 NKTR Synonymous SNV S967S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 184911 chr2 21230582 21230582 T C rs761745929 APOB Nonsynonymous SNV E3053G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 184912 chr14 105181062 105181062 C T rs201715539 INF2 Nonsynonymous SNV S1188F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 184913 chr6 117681510 117681510 G A rs375496236 ROS1 Nonsynonymous SNV T1147I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 184914 chr2 215914533 215914533 C T rs142897482 ABCA12 Synonymous SNV L170L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.643 184915 chr6 119252818 119252818 T C MCM9 Nonsynonymous SNV D24G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 184916 chr12 132325280 132325280 C T rs142005718 MMP17 Synonymous SNV N195N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.088 184917 chr2 216878007 216878007 C G MREG Nonsynonymous SNV G15A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 184918 chr1 155039302 155039302 C T rs763481245 EFNA4 Synonymous SNV P70P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.06 184919 chr15 68624738 68624738 C T rs763407027 ITGA11 Nonsynonymous SNV A502T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 184920 chr1 155644838 155644838 T C rs758064394 YY1AP1 Nonsynonymous SNV N114S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 184921 chr15 72057477 72057477 G A rs148016609 THSD4 Nonsynonymous SNV S543N 0.004 0 0 0 5 0 0 0 0 0 0 0 18.56 184922 chr2 220078186 220078186 A G rs201713868 ABCB6 Nonsynonymous SNV F519S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 184923 chr2 220100530 220100535 AGCAGG - rs539149625 ANKZF1 Q428_E429del 0.001 0 0 0 1 0 0 0 0 0 0 0 184924 chr6 144869915 144869915 C T rs751302037 UTRN Synonymous SNV I2245I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 184925 chr13 28498711 28498711 C T rs193922358 PDX1 Nonsynonymous SNV P242L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 184926 chr6 146275999 146275999 G T rs200714044 SHPRH Nonsynonymous SNV H154N 0 0 0.007 0 0 0 0 2 0 0 0 0 7.111 184927 chr1 158517226 158517226 C T rs146992928 OR6Y1 Nonsynonymous SNV A224T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.023 184928 chr22 43606233 43606233 G A rs138968120 SCUBE1 Synonymous SNV G799G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.46 184929 chr15 41195125 41195125 C A rs760855215 VPS18 Nonsynonymous SNV D836E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 184930 chr6 152673347 152673347 C T rs879779013 SYNE1 Nonsynonymous SNV E3784K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 184931 chr15 85664199 85664199 C A rs769934168 PDE8A Nonsynonymous SNV L590M 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 29.3 184932 chr6 154414559 154414576 GTGGAGCATTTCTCCTGA - rs746389905 OPRM1 G441_S446del 0 0 0.003 0 0 0 0 1 0 0 0 0 184933 chr15 43641185 43641185 C T rs62019439 ADAL Synonymous SNV S238S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.68 184934 chr13 46946451 46946451 T C rs141876988 RUBCNL Nonsynonymous SNV I54V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.796 184935 chr1 16332669 16332669 G A SRARP Nonsynonymous SNV C113Y 0 0.003 0 4 0 1 0.01 0 0 0 0 0 3.931 184936 chr13 51854768 51854768 C T FAM124A Synonymous SNV H339H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 184937 chr1 1691284 1691284 C T rs367736412 NADK Synonymous SNV S107S 0 0.003 0 5 0 1 0.013 0 0 0 0 0 12.43 184938 chr3 8955329 8955329 C T rs746674909 RAD18 Nonsynonymous SNV S322N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 184939 chr15 54306679 54306679 C A UNC13C Nonsynonymous SNV H527N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 184940 chr6 17669770 17669770 A G NUP153 Nonsynonymous SNV V287A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 184941 chr3 183963387 183963387 C T ALG3 Nonsynonymous SNV V57M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 184942 chr20 3672600 3672600 G A SIGLEC1 Nonsynonymous SNV A1427V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 184943 chr16 334534 334534 A G rs187002943 PDIA2 Nonsynonymous SNV E116G 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 0.002 184944 chr16 335089 335089 T C rs113796220 PDIA2 Synonymous SNV D228D 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 0.004 184945 chr16 354391 354391 C T rs151172370 AXIN1 Synonymous SNV A389A 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 10.88 184946 chr3 194062052 194062052 G A rs369348669 CPN2 Synonymous SNV D460D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 184947 chr6 28333277 28333279 TCG - rs146485424 ZKSCAN3 S130del 0.002 0 0.007 0 2 0 0 2 0 0 0 0 184948 chr4 114276890 114276890 C T ANK2 Synonymous SNV S2372S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.278 184949 chr2 121742145 121742145 C T rs750428234 GLI2 Synonymous SNV H452H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.97 184950 chr2 27305380 27305380 G T EMILIN1 Nonsynonymous SNV R314L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.12 184951 chr16 1384676 1384676 G T rs768016801 BAIAP3 Nonsynonymous SNV G5V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 184952 chr16 1384677 1384677 A T rs750867421 BAIAP3 Synonymous SNV G5G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 184953 chr2 128944289 128944289 A G rs190821270 UGGT1 Synonymous SNV P1464P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.931 184954 chr2 29152461 29152461 G A rs372892523 WDR43 Nonsynonymous SNV R441H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 184955 chr2 29268267 29268267 C T rs149465089 TOGARAM2 Nonsynonymous SNV R714C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 184956 chr4 126241998 126241998 A C rs200565115 FAT4 Nonsynonymous SNV I1478L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 184957 chr6 43412602 43412602 G A rs768319377 ABCC10 Synonymous SNV A894A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 6.119 184958 chr16 1813658 1813658 C T rs200312072 MAPK8IP3 Synonymous SNV D626D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 184959 chr16 1837784 1837784 C T rs150988124 NUBP2 Synonymous SNV A6A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 184960 chr2 32422885 32422885 A G rs138194998 SLC30A6 Nonsynonymous SNV I22V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 184961 chr2 32692685 32692685 A G rs61754133 BIRC6 Nonsynonymous SNV I1817V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.3 184962 chr16 2141448 2141448 G A rs547262346 PKD1 Synonymous SNV G3895G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.97 184963 chr6 42890858 42890858 A C rs200942121 PTCRA Nonsynonymous SNV D51A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 24.5 184964 chr6 42974956 42974956 C T rs779372850 PPP2R5D Nonsynonymous SNV T76M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 184965 chr6 43013046 43013046 C T rs201345667 CUL7 Nonsynonymous SNV R1070H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 23.1 184966 chr6 43022145 43022145 C G rs199896735 MRPL2 Nonsynonymous SNV R262P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 35 184967 chr6 43096903 43096903 G A PTK7 Nonsynonymous SNV V98M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 184968 chr2 152512847 152512847 G A rs752114805 NEB Synonymous SNV N2105N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.148 184969 chr14 23306077 23306077 G C MMP14 Synonymous SNV T17T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.27 184970 chr6 49698932 49698932 T A rs148954938 CRISP3 Nonsynonymous SNV Y208F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 184971 chr20 60893617 60893617 C T rs763121557 LAMA5 Nonsynonymous SNV E2378K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.25 184972 chr4 154624845 154624845 C T rs202008414 TLR2 Synonymous SNV T262T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.81 184973 chr6 51484027 51484027 T C rs758412771 PKHD1 Nonsynonymous SNV Q4026R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.395 184974 chr2 159519581 159519581 G A rs139221917 PKP4 Nonsynonymous SNV R795K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 184975 chr20 60908465 60908465 T C rs777665241 LAMA5 Nonsynonymous SNV T1032A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.199 184976 chr6 52268338 52268338 C T rs200119544 PAQR8 Synonymous SNV S109S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 184977 chr2 45778355 45778355 G T rs371024329 SRBD1 Synonymous SNV L528L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.162 184978 chr16 4606552 4606552 T C rs191227556 C16orf96 Nonsynonymous SNV L21P 0.003 0 0 0 3 0 0 0 0 0 0 0 27.2 184979 chr16 4949108 4949108 C T rs191174209 PPL Nonsynonymous SNV R261Q 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 184980 chr4 169227857 169227857 C T rs140161501 DDX60 Synonymous SNV A93A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.007 184981 chr14 29237235 29237235 C T rs759790790 FOXG1 Synonymous SNV G250G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.94 184982 chr2 169571519 169571519 C T rs116506340 CERS6 Synonymous SNV G206G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 12.49 184983 chr6 71266472 71266472 T C FAM135A Synonymous SNV N1187N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.888 184984 chr6 64408351 64408351 A C rs771586832 PHF3 Synonymous SNV S858S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.747 184985 chr2 64211065 64211065 C T rs201683936 VPS54 Synonymous SNV E23E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 184986 chr16 11650487 11650487 G T rs759905004 LITAF Nonsynonymous SNV P34T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.5 184987 chr2 7027254 7027254 A G rs368475833 RSAD2 Nonsynonymous SNV M233V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 184988 chr16 16218709 16218709 G T rs371775317 ABCC1 Synonymous SNV A1218A 0.003 0 0 0 4 0 0 0 0 0 0 0 9.031 184989 chr2 178936366 178936366 G A rs79233810 PDE11A Synonymous SNV L267L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.861 184990 chr6 82943967 82943967 A G IBTK Synonymous SNV G109G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.699 184991 chr4 186379567 186379567 T C rs144676814 CCDC110 Nonsynonymous SNV H688R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 184992 chr6 80197069 80197069 G A rs183011135 LCA5 Synonymous SNV N582N 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.24 184993 chr6 83900718 83900718 G C PGM3 Nonsynonymous SNV A5G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.95 184994 chr2 73679381 73679381 G A rs748955901 ALMS1 Synonymous SNV E1908E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.93 184995 chr4 187549364 187549364 G A rs111886222 FAT1 Nonsynonymous SNV T1585M 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 26.4 184996 chr4 187557908 187557908 C T rs113970444 FAT1 Nonsynonymous SNV R1268Q 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 23.7 184997 chr6 90385381 90385381 A G LOC101929057 0 0 0.003 0 0 0 0 1 0 0 0 0 3.072 184998 chr2 74779681 74779681 C T rs376297326 LOXL3 Synonymous SNV P27P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.35 184999 chr16 717490 717490 C T WDR90 Synonymous SNV H1716H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 185000 chr16 27506218 27506218 C T rs146596446 GTF3C1 Nonsynonymous SNV D882N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 185001 chr2 183582884 183582884 T C rs765301178 DNAJC10 Nonsynonymous SNV V24A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 185002 chr16 30365931 30365931 C T rs143909714 CD2BP2 Synonymous SNV K24K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 185003 chr16 30409664 30409664 G A rs550963398 ZNF48 Nonsynonymous SNV D242N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 185004 chr16 30667525 30667525 G A rs147732504 PRR14 Nonsynonymous SNV A551T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.04 185005 chr2 191375258 191375258 A G rs896161226 NEMP2 Nonsynonymous SNV M320T 0 0.005 0 0 0 2 0 0 0 0 0 0 5.909 185006 chr2 196642680 196642680 C G rs751558187 DNAH7 Nonsynonymous SNV M3636I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 185007 chr2 196673447 196673447 T C rs757345873 DNAH7 Nonsynonymous SNV M3348V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.775 185008 chr2 98377354 98377354 T C rs758951140 TMEM131 Nonsynonymous SNV N1638S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 185009 chr2 197586292 197586292 G A rs756203599 CCDC150 Nonsynonymous SNV R177K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 185010 chr3 102175120 102175120 A G rs149754680 ZPLD1 Synonymous SNV P153P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.182 185011 chr1 228353528 228353528 C T rs199781237 IBA57 Nonsynonymous SNV A4V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.03 185012 chr2 202245473 202245473 C T rs754385269 TRAK2 Synonymous SNV V846V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 185013 chr14 75151286 75151286 G A rs112328689 AREL1 Synonymous SNV R38R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.75 185014 chr16 3433073 3433073 G A rs201511674 ZSCAN32 Nonsynonymous SNV R336C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 185015 chr14 76905997 76905997 C T ESRRB Nonsynonymous SNV R101C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 185016 chr16 3486996 3486996 C T rs151243501 ZNF597 Nonsynonymous SNV V235I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 185017 chr4 54880063 54880063 G A rs150857189 CHIC2 Synonymous SNV L130L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.96 185018 chr14 88967182 88967182 A T rs199988571 PTPN21 Nonsynonymous SNV C237S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.25 185019 chr7 106300898 106300898 G A rs543855518 CCDC71L Nonsynonymous SNV P149S 0.005 0 0 1 6 0 0.003 0 2 0 0 0 0.152 185020 chr3 119101142 119101142 C G rs201927115 ARHGAP31 Synonymous SNV T145T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.86 185021 chr22 19165855 19165855 G A rs2276467 SLC25A1 Nonsynonymous SNV A5V 0.005 0.005 0 5 6 2 0.013 0 0 0 0 0 Benign 6.861 185022 chr16 11933743 11933743 C A rs34999527 RSL1D1 Nonsynonymous SNV D319Y 0.007 0 0.003 4 8 0 0.01 1 0 0 0 0 23.4 185023 chr7 113522189 113522189 G A rs371083356 PPP1R3A Nonsynonymous SNV H291Y 0.007 0 0 2 8 0 0.005 0 0 0 0 0 10.12 185024 chr16 72821110 72821110 T C rs149908041 ZFHX3 Nonsynonymous SNV K2775E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 7.899 185025 chr7 116395430 116395430 C T MET Nonsynonymous SNV L145F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 185026 chr16 15729650 15729650 C T rs192438053 MARF1 Nonsynonymous SNV G232R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.8 185027 chr22 21385420 21385420 C T rs61740844 SLC7A4 Nonsynonymous SNV G228S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 185028 chr16 16228310 16228310 A G rs200768421 ABCC1 Nonsynonymous SNV N1357S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 185029 chr3 122274927 122274927 T C rs199647088 PARP9 Nonsynonymous SNV I66V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.22 185030 chr2 219131179 219131179 T G rs537666814 AAMP Synonymous SNV R222R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.07 185031 chr22 22842097 22842097 G A rs746709273 ZNF280B Nonsynonymous SNV H543Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 185032 chr2 219529497 219529497 C T rs1016245090 RNF25 Nonsynonymous SNV A256T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 185033 chr3 123014952 123014952 G A rs761362128 ADCY5 Synonymous SNV L664L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 185034 chr7 128312545 128312545 C T FAM71F2 Nonsynonymous SNV H32Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 185035 chr22 25331345 25331345 G A rs747215012 TMEM211 Synonymous SNV S115S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.041 185036 chr7 131195625 131195625 C T rs367989792 PODXL Nonsynonymous SNV G223D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 185037 chr14 104500394 104500394 A G rs770483448 TDRD9 Nonsynonymous SNV I1203V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 185038 chr22 28195332 28195332 C T rs144844337 MN1 Synonymous SNV L400L 0.005 0.016 0.007 1 6 6 0.003 2 0 0 0 0 Benign 9.735 185039 chr16 84228798 84228798 G A rs61741260 ADAD2 Nonsynonymous SNV R244K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 185040 chr16 28507776 28507776 A G rs764157241 APOBR Nonsynonymous SNV M472V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 185041 chr16 28508965 28508965 T A APOBR Nonsynonymous SNV M868K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.512 185042 chr4 151836762 151836762 C T LRBA Nonsynonymous SNV D338N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 185043 chr1 247769430 247769430 A T rs61740141 OR2G3 Synonymous SNV V181V 0.001 0.005 0.003 5 1 2 0.013 1 0 0 0 1 0.255 185044 chr7 138916643 138916643 A C rs760932460 UBN2 Nonsynonymous SNV D138A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 22.6 185045 chr7 13935542 13935542 C T rs372294623 ETV1 Synonymous SNV P403P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 185046 chr2 228563810 228563810 T C rs145804755 SLC19A3 Nonsynonymous SNV I207M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.033 185047 chr16 30567079 30567079 G C ZNF764 Nonsynonymous SNV H220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 185048 chr2 233323396 233323396 G A rs752854294 ALPI Nonsynonymous SNV G413D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 185049 chr15 26026249 26026249 C T rs78266472 ATP10A Nonsynonymous SNV G191R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 27.4 185050 chr16 88788130 88788130 G A rs998712810 PIEZO1 Nonsynonymous SNV A1740V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.135 185051 chr7 143771920 143771920 T C OR2A25 Nonsynonymous SNV V203A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.535 185052 chr16 54953114 54953114 G A rs115515594 CRNDE Nonsynonymous SNV P47L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.307 185053 chr7 149506239 149506239 T C rs73727628 SSPO 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.35 185054 chr7 149500569 149500569 G A rs139124512 SSPO 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 7.672 185055 chr2 239036285 239036285 G T ESPNL Nonsynonymous SNV W7C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.71 185056 chr7 150772536 150772536 C T rs141479576 SLC4A2 Nonsynonymous SNV P1072L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 185057 chr4 183650143 183650143 C T rs181078136 TENM3 Synonymous SNV P798P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 185058 chr15 41102160 41102160 A G ZFYVE19 Nonsynonymous SNV N188S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.418 185059 chr7 158734738 158734738 T C rs773216587 WDR60 Synonymous SNV P776P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.142 185060 chr5 115351065 115351065 - ATATATATATATATGGAAC rs760127445 LVRN Frameshift insertion Q857Yfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 185061 chr16 70819743 70819743 G T rs201284720 VAC14 Synonymous SNV I95I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 185062 chr22 47311142 47311142 C T rs1011456738 TBC1D22A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.176 185063 chr16 71668262 71668262 G A rs142821011 MARVELD3 Synonymous SNV K254K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 185064 chr2 27009133 27009133 C T CENPA Synonymous SNV T23T 0 0.005 0 0 0 2 0 0 0 0 0 0 11.41 185065 chr1 36039874 36039874 - C TFAP2E Frameshift insertion L126Pfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 185066 chr3 169540501 169540501 G A rs780834213 LRRIQ4 Synonymous SNV L264L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.523 185067 chr7 2472909 2472909 C T rs138409451 CHST12 Nonsynonymous SNV A212V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 185068 chr7 28280255 28280255 A G rs149194782 JAZF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.977 185069 chr1 39827330 39827330 A G rs928357099 MACF1 Nonsynonymous SNV H2189R 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 7.425 185070 chr2 100623196 100623196 G A rs113788504 AFF3 Synonymous SNV T282T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.063 185071 chr1 41300690 41300690 G C rs55964611 KCNQ4 Synonymous SNV P501P 0.005 0 0 2 6 0 0.005 0 0 0 0 0 10.21 185072 chr4 39301959 39301959 C G rs755363991 RFC1 Nonsynonymous SNV D845H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 29.3 185073 chr17 6328974 6328974 G A rs779791471 AIPL1 Synonymous SNV L258L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.27 185074 chr16 84472875 84472875 T C rs199936161 ATP2C2 Synonymous SNV L213L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.409 185075 chr1 43917921 43917921 G A rs777397095 HYI Synonymous SNV A127A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.804 185076 chr4 47880640 47880640 T C rs771949328 NFXL1 Nonsynonymous SNV K661E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 185077 chr7 45104100 45104100 C T rs201879802 CCM2 Synonymous SNV H51H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 185078 chr4 48384664 48384664 T C rs749776275 SLAIN2 Synonymous SNV F314F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.283 185079 chr17 7948239 7948239 C T rs141534086 ALOX15B Nonsynonymous SNV L257F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 25.4 185080 chr5 140530514 140530514 G A PCDHB6 Nonsynonymous SNV E226K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.132 185081 chr2 121106851 121106851 G A rs142763860 INHBB Nonsynonymous SNV G209S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.83 185082 chr2 121685040 121685040 C T rs201412339 GLI2 Synonymous SNV H84H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.894 185083 chr2 121728086 121728086 C G rs149894186 GLI2 Synonymous SNV P196P 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 10.36 185084 chr17 8137857 8137857 G A rs374985738 CTC1 Synonymous SNV A578A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.674 185085 chr5 140856368 140856368 C A rs752954707 PCDHGC3 Nonsynonymous SNV P229T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.002 185086 chr2 122486046 122486046 A T rs748989670 NIFK-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.204 185087 chr4 57777142 57777142 G A REST Nonsynonymous SNV S113N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 185088 chr15 72039293 72039293 G A rs750180360 THSD4 Nonsynonymous SNV R358H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 185089 chr2 133531429 133531429 G C rs199705308 NCKAP5 Nonsynonymous SNV D377E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 185090 chr2 63380060 63380060 C T rs369786224 WDPCP Nonsynonymous SNV G568S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.324 185091 chr2 64193004 64193004 G A rs376748951 VPS54 Nonsynonymous SNV R185C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 185092 chr2 136513179 136513179 C T rs185790312 UBXN4 Synonymous SNV N142N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.589 185093 chr2 136630401 136630401 G T rs150079280 MCM6 Nonsynonymous SNV S40R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.213 185094 chr17 11806119 11806119 C T rs150055739 DNAH9 Synonymous SNV S142S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.69 185095 chr17 16456506 16456506 T C rs376095425 ZNF287 Nonsynonymous SNV Y269C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 185096 chr17 600687 600687 G A VPS53 Stop gain Q86X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 185097 chr15 78893787 78893787 G A rs56403513 CHRNA3 Synonymous SNV D399D 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.074 185098 chr7 72936216 72936216 C A BAZ1B Nonsynonymous SNV L16F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 185099 chr17 18030435 18030435 C T rs374131038 MYO15A Nonsynonymous SNV R1330C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 185100 chr3 38407217 38407217 G A rs200425508 XYLB Nonsynonymous SNV R29H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 185101 chr7 5428471 5428471 C T rs760464582 TNRC18 Synonymous SNV P328P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 8.252 185102 chr2 74605364 74605364 G A rs535554555 DCTN1 Synonymous SNV S14S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.11 185103 chr2 160086901 160086901 G A rs774154422 TANC1 Nonsynonymous SNV R1454Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 185104 chr15 83951904 83951904 T A BNC1 Nonsynonymous SNV T21S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 185105 chr1 65690453 65690453 G T AK4 Nonsynonymous SNV G101C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 185106 chr3 42917227 42917227 G A rs373922271 CYP8B1 Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 185107 chr15 89010425 89010425 G A rs201272217 MRPL46 Nonsynonymous SNV P62S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.738 185108 chr7 73752902 73752902 C T CLIP2 Synonymous SNV G82G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 185109 chr7 75583457 75583457 G C rs56355228 POR Nonsynonymous SNV K49N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 185110 chr2 9630624 9630624 C T ADAM17 Nonsynonymous SNV M719I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.01 185111 chr7 94029555 94029555 C T rs756659600 COL1A2 Synonymous SNV G60G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 185112 chr3 45127396 45127396 C T rs141086872 CDCP1 Nonsynonymous SNV D749N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 185113 chr7 98649004 98649004 G A rs771428880 SMURF1 Nonsynonymous SNV T261M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 185114 chr3 45800571 45800571 C T rs140440513 SLC6A20 Nonsynonymous SNV G523R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 185115 chr17 4837123 4837123 G - GP1BA T409Pfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 185116 chr17 4837125 4837201 CCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCG - GP1BA T409Nfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 185117 chr15 91422032 91422032 G A rs745482914 FURIN Synonymous SNV S293S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 185118 chr7 90012288 90012288 G C GTPBP10 Nonsynonymous SNV E187Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 185119 chr5 178359310 178359310 A G rs61746646 ZFP2 Synonymous SNV G332G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.046 185120 chr17 35548082 35548082 C T rs767883710 ACACA Synonymous SNV T1422T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.65 185121 chr2 179614148 179614148 T C rs144226338 TTN Nonsynonymous SNV I4327V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 2.05 185122 chr8 110457214 110457214 A G PKHD1L1 Nonsynonymous SNV N1706D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.326 185123 chr3 49761154 49761154 C T GMPPB Synonymous SNV K2K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 185124 chr15 101569401 101569401 C T LRRK1 Nonsynonymous SNV A976V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 185125 chr3 50336645 50336645 T A HYAL3, NAA80 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 185126 chr8 118541031 118541031 G C rs34260483 MED30 Nonsynonymous SNV D107H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22 185127 chr3 51812767 51812767 G A rs750291646 IQCF6 Nonsynonymous SNV R66C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 185128 chr17 7674742 7674742 G C rs149755542 DNAH2 Nonsynonymous SNV R1486T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 185129 chr3 114070010 114070010 G A ZBTB20 Synonymous SNV T305T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.157 185130 chr16 449651 449651 C T rs573747830 NME4 Nonsynonymous SNV R84C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 185131 chr8 125103703 125103703 C T rs200383834 FER1L6 Synonymous SNV T1477T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 185132 chr5 37725142 37725142 A G rs151126380 WDR70 Synonymous SNV V546V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 185133 chr17 8222135 8222135 G A rs777849960 ARHGEF15 Nonsynonymous SNV R647Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 185134 chr8 113697797 113697797 A G CSMD3 Nonsynonymous SNV F644L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 185135 chr2 190327364 190327364 T C WDR75 Synonymous SNV D311D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.815 185136 chr3 121712730 121712730 A C rs141450561 ILDR1 Nonsynonymous SNV L200W 0.005 0.005 0.007 3 6 2 0.008 2 0 0 0 0 Pathogenic 26 185137 chr17 9676083 9676083 C T rs371011586 DHRS7C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 185138 chr5 41203323 41203323 G A rs150931891 C6 Nonsynonymous SNV R4C 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 9.622 185139 chr8 134034244 134034244 C T rs149348416 TG Synonymous SNV N2295N 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Likely benign 8.556 185140 chr8 121282284 121282284 G A rs2305608 COL14A1 Synonymous SNV A1028A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.48 185141 chr5 5182286 5182286 C T rs61748184 ADAMTS16 Nonsynonymous SNV P211S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.225 185142 chr16 2050020 2050020 G A rs199574549 ZNF598 Synonymous SNV S510S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.295 185143 chr16 2239060 2239060 G A rs370326241 CASKIN1 Synonymous SNV L195L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 185144 chr20 16553877 16553877 C T rs185829984 KIF16B Nonsynonymous SNV R15H 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 29.9 185145 chr8 143396446 143396446 C T rs62000450 TSNARE1 Nonsynonymous SNV R111H 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 7.799 185146 chr17 39871843 39871843 C A rs138073636 GAST Nonsynonymous SNV P52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 185147 chr16 2980617 2980617 G A rs770389253 FLYWCH1 Nonsynonymous SNV E178K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 185148 chr3 77147385 77147385 C T ROBO2 Synonymous SNV R94R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.77 185149 chr8 128752745 128752745 C A rs139697494 MYC Nonsynonymous SNV H301Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 185150 chr5 63871649 63871649 G A rs200348501 RGS7BP Synonymous SNV Q127Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.179 185151 chr17 19687130 19687130 G A rs56181782 ULK2 Synonymous SNV S780S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.788 185152 chr16 4815592 4815592 G A rs147745603 ZNF500 Nonsynonymous SNV R130W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 185153 chr8 134271475 134271475 T C NDRG1 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 185154 chr17 41352270 41352278 GAGGAGGAT - rs776209362 NBR1 D689_E691del 0.001 0 0 0 1 0 0 0 0 0 0 0 185155 chr17 42085001 42085001 G T rs762358574 NAGS Synonymous SNV G437G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 8.778 185156 chr17 42338065 42338065 C T rs141244582 SLC4A1 Nonsynonymous SNV R96H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 185157 chr8 144998001 144998001 C G rs564245730 PLEC Synonymous SNV S2018S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.743 185158 chr16 10575712 10575712 A G rs147878673 ATF7IP2 Nonsynonymous SNV T530A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 185159 chr20 30898290 30898290 G A rs142727710 KIF3B Nonsynonymous SNV R237H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.2 185160 chr16 15876284 15876284 G A rs368292089 MYH11 Synonymous SNV F228F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.27 185161 chr20 31671541 31671541 G A rs201505694 BPIFB4 Nonsynonymous SNV A180T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.163 185162 chr17 48453260 48453260 A G rs764510898 EME1 Nonsynonymous SNV R231G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 185163 chr17 48503701 48503701 C A rs748771858 ACSF2 Nonsynonymous SNV L27I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 185164 chr4 119158372 119158372 C A NDST3 Stop gain Y705X 0.003 0 0 0 3 0 0 0 0 0 0 0 37 185165 chr5 145719273 145719273 G A rs759874542 POU4F3 Nonsynonymous SNV V95M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 185166 chr8 17132243 17132243 C T rs143689645 VPS37A Synonymous SNV L115L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.82 185167 chr8 144990545 144990545 C T rs373807877 PLEC Nonsynonymous SNV G4468S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.6 185168 chr8 145051668 145051668 C T PARP10 Nonsynonymous SNV R1033H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.693 185169 chr8 18662330 18662330 T G PSD3 Synonymous SNV P37P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.274 185170 chr4 123257399 123257399 A G rs201001489 KIAA1109 Synonymous SNV V3967V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.692 185171 chr8 145162753 145162753 A G WDR97 Nonsynonymous SNV T34A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 185172 chr16 24580154 24580154 T C RBBP6 Nonsynonymous SNV Y681H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 185173 chr3 150301668 150301673 GGAGCT - rs773263436 EIF2A L517_E518del 0 0.003 0 0 0 1 0 0 0 0 0 0 185174 chr16 27481707 27481707 C T rs144060955 GTF3C1 Synonymous SNV T1512T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 185175 chr17 58134429 58134429 T C rs771458271 HEATR6 Nonsynonymous SNV M687V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.077 185176 chr5 150934101 150934101 C T FAT2 Nonsynonymous SNV S1256N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.12 185177 chr8 146156531 146156531 T C ZNF16 Nonsynonymous SNV T548A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 185178 chr20 44505899 44505899 C T rs762881127 ZSWIM3 Synonymous SNV L234L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.891 185179 chr16 30913728 30913728 C T CTF1 Synonymous SNV T157T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.39 185180 chr3 170858194 170858194 A G rs759477071 TNIK Synonymous SNV H442H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 185181 chr8 30704325 30704325 T A rs142599725 TEX15 Nonsynonymous SNV T1120S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 185182 chr4 155720307 155720307 T G RBM46 Nonsynonymous SNV I331M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.64 185183 chr4 156278635 156278635 A G rs141142100 MAP9 Nonsynonymous SNV S363P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.394 185184 chr8 22777710 22777710 G A rs74484614 PEBP4 Nonsynonymous SNV P82L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 22.4 185185 chr20 5282730 5282730 C G rs201023639 PROKR2 Nonsynonymous SNV G371R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 5.234 185186 chr8 37374126 37374126 G A rs190531387 LINC01605 0 0 0.003 0 0 0 0 1 0 0 0 0 3.115 185187 chr5 17275715 17275715 C G rs777161157 BASP1 Synonymous SNV A130A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.796 185188 chr2 236706516 236706516 G A rs745633099 AGAP1 Nonsynonymous SNV V263M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 185189 chr20 57899468 57899468 C T rs761106361 EDN3 Nonsynonymous SNV A210V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.8 185190 chr6 124979431 124979431 G T rs530651093 NKAIN2 Nonsynonymous SNV D23Y 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 22.9 185191 chr17 41003381 41003381 C T rs138725349 AOC3 Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.289 185192 chr6 124979432 124979432 A T rs543840009 NKAIN2 Nonsynonymous SNV D23V 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 22.8 185193 chr17 41164226 41164226 A G rs148786311 IFI35 Nonsynonymous SNV R18G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 185194 chr20 58645092 58645092 G T C20orf197 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 185195 chr5 178459640 178459640 C T ZNF879 Nonsynonymous SNV L231F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 185196 chr4 175896871 175896871 C T rs61753554 ADAM29 Synonymous SNV I65I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.581 185197 chr5 179200956 179200956 G A rs764130218 MAML1 Nonsynonymous SNV R710Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 33 185198 chr6 132782984 132782984 T C rs779199584 STX7 Nonsynonymous SNV M237V 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 5.521 185199 chr8 6590126 6590126 A G rs17078008 AGPAT5 Synonymous SNV K150K 0.007 0.003 0.031 6 8 1 0.015 9 0 0 1 0 1.717 185200 chr4 184932223 184932223 G A rs376585011 STOX2 Synonymous SNV P744P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.88 185201 chr5 180687255 180687255 C T rs148982091 TRIM52 Nonsynonymous SNV R187Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.81 185202 chr8 74005128 74005128 - GAAGCGACA rs756043144 SBSPON F58_T59insCRF 0 0 0.003 0 0 0 0 1 0 0 0 0 185203 chr8 43046716 43046716 C A rs367831580 HGSNAT Nonsynonymous SNV L346M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 13.84 185204 chr17 46998572 46998572 G A rs57077857 UBE2Z Synonymous SNV E247E 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.66 185205 chr20 62044823 62044823 T G rs757856249 KCNQ2 Synonymous SNV R553R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.659 185206 chr8 8654878 8654878 G C MFHAS1 Nonsynonymous SNV S1041C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 185207 chr8 87162458 87162458 C T rs752402385 ATP6V0D2 Nonsynonymous SNV R253W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 185208 chr4 187542899 187542899 G A rs183343406 FAT1 Nonsynonymous SNV P1614L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 27.4 185209 chr8 87437528 87437528 C T WWP1 Nonsynonymous SNV P380S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 185210 chr8 91029359 91029359 G A rs145323335 DECR1 Nonsynonymous SNV S26N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 22.1 185211 chr5 35779301 35779301 G T rs762164674 SPEF2 Nonsynonymous SNV D1434Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 185212 chr17 48745035 48745035 A C rs11568601 ABCC3 Synonymous SNV R518R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 1.796 185213 chr2 27320480 27320480 G A rs143669793 KHK Nonsynonymous SNV R176Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 21.2 185214 chr17 79496291 79496291 G A rs782272650 FSCN2 Nonsynonymous SNV R245Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21 185215 chr17 79580499 79580499 C T rs374372594 NPLOC4 Synonymous SNV L77L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.56 185216 chr4 3494600 3494600 A C DOK7 Nonsynonymous SNV Q152P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 185217 chr17 79682748 79682748 G A rs147861774 SLC25A10 Synonymous SNV T118T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 185218 chr9 101540547 101540547 A G rs201126816 ANKS6 Nonsynonymous SNV S510P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 7.144 185219 chr3 37368406 37368406 C G GOLGA4 Nonsynonymous SNV L1677V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.2 185220 chr9 1056328 1056328 C T rs759993378 DMRT2 Synonymous SNV N73N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.796 185221 chr17 80543997 80543997 A C rs376958736 FOXK2 Nonsynonymous SNV Q499H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.23 185222 chr16 84495427 84495427 C T rs145463404 ATP2C2-AS1 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.137 185223 chr6 160174588 160174588 T G WTAP Synonymous SNV L183L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.457 185224 chr6 160328212 160328212 C T rs374306384 MAS1 Synonymous SNV I75I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.033 185225 chr18 712568 712568 G C rs3786349 ENOSF1 Nonsynonymous SNV S7C 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 12.99 185226 chr8 99139874 99139874 C T rs148625494 POP1 Nonsynonymous SNV S65F 0.003 0 0 0 3 0 0 0 0 0 0 0 8.973 185227 chr3 39374414 39374414 A C CCR8 Nonsynonymous SNV T198P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 185228 chr6 160828191 160828191 T C rs371628612 SLC22A3 Nonsynonymous SNV F218L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 185229 chr3 40231935 40231935 G A rs139499499 MYRIP Nonsynonymous SNV R362Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.018 185230 chr2 42580456 42580456 C G rs150177100 COX7A2L Nonsynonymous SNV A31P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.1 185231 chr17 71193413 71193413 C T rs367884440 COG1 Nonsynonymous SNV T264I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.9 185232 chr2 44051125 44051125 C T rs146801512 ABCG5 Synonymous SNV Q417Q 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.72 185233 chr4 55603391 55603391 C T KIT Nonsynonymous SNV T916I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.2 185234 chr2 44079507 44079507 C T rs148058949 ABCG8 Synonymous SNV I192I 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.46 185235 chr6 168376879 168376918 GTTGGGGGAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCA - HGC6.3 C139Tfs*38 0.003 0 0 1 3 0 0.003 0 0 0 0 0 185236 chr6 170593098 170593098 G A rs376472547 DLL1 Synonymous SNV L423L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.018 185237 chr9 107510124 107510124 G A rs373799358 NIPSNAP3A Synonymous SNV L17L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.044 185238 chr3 44926861 44926861 - T TGM4 Frameshift insertion S23Ffs*47 0.001 0.003 0 0 1 1 0 0 0 0 0 0 185239 chr4 57777422 57777422 A C rs137961173 REST Synonymous SNV A206A 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 0.117 185240 chr4 57797032 57797032 G A rs145504954 REST Nonsynonymous SNV V670M 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Likely benign 0.01 185241 chr4 675700 675700 T G MYL5 Nonsynonymous SNV F147V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 185242 chr18 28923439 28923439 G A rs137983671 DSG1 Nonsynonymous SNV D572N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 185243 chr9 125751701 125751701 A G rs145231257 RABGAP1 Nonsynonymous SNV N239S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 185244 chr3 47461039 47461039 C T rs141351370 SCAP Synonymous SNV P318P 0 0.005 0 0 0 2 0 0 0 0 0 0 14.99 185245 chr9 127119284 127119284 - CCT rs577970889 LOC100129034 0 0 0.003 0 0 0 0 1 0 0 0 0 185246 chr3 47969788 47969788 A G MAP4 Synonymous SNV N115N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.214 185247 chr9 128117965 128117965 T C rs764189053 GAPVD1 Nonsynonymous SNV V1240A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 185248 chr2 69098350 69098350 G A rs2231339 BMP10 Synonymous SNV D47D 0.005 0 0 2 6 0 0.005 0 0 0 0 0 2.058 185249 chr3 49153273 49153273 G A rs755009255 USP19 Nonsynonymous SNV R410W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 185250 chr2 69581631 69581631 G A rs78952091 GFPT1 Synonymous SNV L225L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 11.38 185251 chr9 117068828 117068828 T C rs145069844 COL27A1 Nonsynonymous SNV L1656P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 185252 chr3 49691472 49691472 A G BSN Nonsynonymous SNV K1495E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 185253 chr18 42530073 42530073 C T rs141858699 SETBP1 Synonymous SNV P256P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 13.39 185254 chr17 3119715 3119715 A T OR1A1 Synonymous SNV L267L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 185255 chr17 76498926 76498926 T G rs371772804 DNAH17-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.043 185256 chr2 71361180 71361182 AAA - rs757484811 MPHOSPH10 K291del 0.005 0 0 2 6 0 0.005 0 0 0 0 0 185257 chr21 47754618 47754656 CAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAG - rs761716576 PCNT I79_G91del 0 0 0 4 0 0 0.01 0 0 0 0 0 185258 chr9 124535005 124535005 A G DAB2IP Nonsynonymous SNV N609S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 185259 chr18 55240591 55240591 C T rs148440941 FECH Synonymous SNV P67P 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Likely benign 10.36 185260 chr17 3867556 3867556 G C ATP2A3 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 185261 chr22 18028042 18028042 A G rs201295786 CECR2 Nonsynonymous SNV K858R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.035 185262 chr2 85040203 85040203 C T rs202017484 DNAH6 Nonsynonymous SNV P3983S 0.003 0 0 0 3 0 0 0 0 0 0 0 30 185263 chr22 19754227 19754227 G C rs755937050 TBX1 Nonsynonymous SNV R442P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 185264 chr4 82366985 82366985 T C rs770893155 RASGEF1B Nonsynonymous SNV Y204C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 185265 chr4 83740365 83740365 C T rs72925480 SEC31A Synonymous SNV R1022R 0.006 0 0.003 0 7 0 0 1 0 0 0 0 8.266 185266 chr9 135704085 135704085 G A rs139511569 AK8 Nonsynonymous SNV T144M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 185267 chr4 83839862 83839862 G A rs35532215 THAP9 Nonsynonymous SNV V833I 0.007 0 0.003 0 8 0 0 1 0 0 0 0 22 185268 chr2 86705770 86705770 C T rs138136575 KDM3A Nonsynonymous SNV A743V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 185269 chr3 63649759 63649759 A C rs369180579 SNTN Nonsynonymous SNV K144N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.826 185270 chr4 88901249 88901249 T C rs140258871 SPP1 Nonsynonymous SNV S49P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 185271 chr4 89380549 89380549 C A rs370884693 HERC5 Nonsynonymous SNV A106E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.462 185272 chr6 44106246 44106246 C T TMEM63B Synonymous SNV F133F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.75 185273 chr3 77671528 77671528 A G ROBO2 Synonymous SNV R1235R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.133 185274 chr17 7286803 7286803 G A TNK1 Synonymous SNV R98R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.513 185275 chr6 135787495 135787495 C A AHI1 Nonsynonymous SNV S69I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 185276 chr9 14807978 14807978 C T rs61732546 FREM1 Synonymous SNV T1016T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.25 185277 chr17 7762064 7762064 T G rs780116354 CYB5D1 Stop gain Y126X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 185278 chr6 146755560 146755560 T C rs1047006 GRM1 Synonymous SNV P1071P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.007 185279 chr9 25678177 25678177 - CGCCGC rs555576178 TUSC1 G47_V48insGG 0 0 0.007 1 0 0 0.003 2 0 0 0 0 185280 chr3 118866041 118866041 T G rs78550530 TEX55 Synonymous SNV V335V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.703 185281 chr3 118866133 118866133 G A rs74459758 TEX55 Nonsynonymous SNV R366H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 185282 chr9 27297053 27297053 T C rs144292980 EQTN Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 185283 chr22 35729007 35729007 G A rs771617048 TOM1 Synonymous SNV K266K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 17.52 185284 chr19 1615301 1615301 A C TCF3 Nonsynonymous SNV L601W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 185285 chr17 11543596 11543596 C T rs141077864 DNAH9 Nonsynonymous SNV P599L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.09 185286 chr9 138606428 138606428 C T rs201051863 KCNT1 Nonsynonymous SNV P39L 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 Benign 15.14 185287 chr3 119582291 119582291 A G rs17183897 GSK3B Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.188 185288 chr3 119887089 119887089 G T GPR156 Nonsynonymous SNV A408E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 3.759 185289 chr9 35057129 35057129 A G rs145508640 VCP Synonymous SNV D757D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.491 185290 chr9 35091631 35091631 A G rs775929587 PIGO Synonymous SNV A751A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 185291 chr4 109805333 109805333 C T COL25A1 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 185292 chr17 17062290 17062290 G A MPRIP Nonsynonymous SNV E824K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 185293 chr19 2425415 2425415 G A rs200715461 TMPRSS9 Nonsynonymous SNV R981H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 33 185294 chr4 110932524 110932524 C T rs144592134 EGF Synonymous SNV V1138V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.985 185295 chr19 2810698 2810698 C T rs375742224 THOP1 Nonsynonymous SNV T568M 0.001 0 0 0 1 0 0 0 0 0 0 0 18 185296 chr22 38014489 38014489 G A rs780840986 GGA1 Nonsynonymous SNV R80Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 185297 chr17 18025571 18025571 C T rs376438000 MYO15A Nonsynonymous SNV R1153C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 185298 chr17 18075481 18075481 C T rs199520412 MYO15A Synonymous SNV S3409S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.12 185299 chr17 18221436 18221436 A C SMCR8 Nonsynonymous SNV Q778P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 185300 chr5 137593337 137593337 G A rs202238427 GFRA3 Nonsynonymous SNV P259L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.74 185301 chr5 137756582 137756582 G A rs144181285 KDM3B Synonymous SNV P1301P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.07 185302 chr18 48241493 48241493 A C rs371497095 MAPK4 Synonymous SNV P197P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.466 185303 chr6 159086590 159086590 C T rs774717593 SYTL3 Stop gain R92X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 185304 chr22 43936207 43936207 T A rs140031636 EFCAB6 Nonsynonymous SNV N1075Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.9 185305 chr6 159655176 159655176 G A rs765645763 FNDC1 Nonsynonymous SNV G1211D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.677 185306 chr9 79946926 79946926 A G rs747288143 VPS13A Nonsynonymous SNV I1959V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 185307 chr19 5207960 5207960 G C rs141597386 PTPRS Synonymous SNV T1470T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.023 185308 chr6 160769684 160769684 C T rs768140693 SLC22A3 Nonsynonymous SNV S78F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.86 185309 chr22 46722353 46722353 C T rs761886472 GTSE1 Nonsynonymous SNV P509L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.9 185310 chr9 90584262 90584264 CTC - CDK20 R167del 0 0 0.003 3 0 0 0.008 1 0 0 0 0 185311 chr19 6380653 6380653 G A rs374679232 GTF2F1 Nonsynonymous SNV T427M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 185312 chr3 129134207 129134207 A C rs201823486 EFCAB12 Nonsynonymous SNV I240R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 185313 chr5 140730563 140730563 G A PCDHGB1 Nonsynonymous SNV V246I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 185314 chr4 154553910 154553910 G T rs142655540 TMEM131L Synonymous SNV V1416V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.935 185315 chr5 140789372 140789372 C A rs751397816 PCDHGB6 Nonsynonymous SNV R535S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 185316 chrUn_gl000220 122141 122141 - TCC LOC100507412 0 0 0.01 0 0 0 0 3 0 0 0 0 185317 chr19 7682305 7682305 G A rs368269964 CAMSAP3 Synonymous SNV A1102A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 185318 chr22 51009955 51009955 A G CPT1B Nonsynonymous SNV I496T 0 0 0 1 0 0 0.003 0 0 0 0 0 26 185319 chr9 36219971 36219971 G A GNE Synonymous SNV S450S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.06 185320 chr5 145969747 145969747 G A rs759561412 PPP2R2B Synonymous SNV F368F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.801 185321 chr17 36718035 36718035 G A rs761147410 SRCIN1 Nonsynonymous SNV A455V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 185322 chrX 123195106 123195106 C T rs140900528 STAG2 Synonymous SNV S483S 0 0 0.007 0 0 0 0 2 0 0 1 0 16.15 185323 chrX 123554331 123554331 C T rs139935272 TENM1 Synonymous SNV P1597P 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 11.74 185324 chrX 123654491 123654491 T C rs143849065 TENM1 Synonymous SNV T1059T 0 0 0.007 1 0 0 0.003 2 0 0 1 0 Benign 1.569 185325 chr17 36873726 36873726 G A rs982994615 MLLT6 Nonsynonymous SNV G565R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 185326 chrX 125685503 125685503 G A rs148241244 DCAF12L1 Synonymous SNV I363I 0 0 0.007 0 0 0 0 2 0 0 1 0 4.694 185327 chrX 125686043 125686043 A G rs139822084 DCAF12L1 Synonymous SNV D183D 0 0 0.007 0 0 0 0 2 0 0 1 0 1.803 185328 chr5 149247324 149247324 A C rs145809648 PDE6A Synonymous SNV G746G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.393 185329 chr9 6595017 6595017 C G rs751178133 GLDC Nonsynonymous SNV E420Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 185330 chr5 149449526 149449526 C T rs191994354 CSF1R Nonsynonymous SNV V474I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.002 185331 chr9 71940585 71940585 G T FAM189A2 Synonymous SNV S120S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 185332 chrX 14262788 14262788 C T rs113558788 UBE2E4P 0 0 0.01 0 0 0 0 3 0 0 1 0 17.09 185333 chr19 1007970 1007970 G A rs200432745 GRIN3B Nonsynonymous SNV G772S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 185334 chr2 113539288 113539288 A G IL1A Nonsynonymous SNV M71T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.492 185335 chr9 78973515 78973515 G A PCSK5 Nonsynonymous SNV V1754M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.87 185336 chr3 156266686 156266686 A C rs778050907 SSR3 Nonsynonymous SNV S123A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.053 185337 chr9 90586064 90586064 G A rs760931795 CDK20 Nonsynonymous SNV R126W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 185338 chr19 9071610 9071610 G A MUC16 Nonsynonymous SNV A5279V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.316 185339 chr17 39659271 39659271 C T rs142526332 KRT13 Nonsynonymous SNV R272H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.7 185340 chr19 2278847 2278847 C T rs766558237 PEAK3 Synonymous SNV P116P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.467 185341 chrX 48776074 48776074 G C rs200067741 PIM2 Nonsynonymous SNV P13R 0 0 0.007 0 0 0 0 2 0 0 1 0 13.32 185342 chr19 3586825 3586825 G A rs753038931 GIPC3 Nonsynonymous SNV G142D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 185343 chr4 2934448 2934468 GAGGTGGCCCAGACTGCATAT - rs775902777 MFSD10 Y131_S137del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 185344 chrX 63444792 63444792 C A rs144066127 ASB12 Nonsynonymous SNV G247C 0 0 0.007 0 0 0 0 2 0 0 1 0 28.3 185345 chr5 16680138 16680138 C A rs747780788 MYO10 Nonsynonymous SNV R1487L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 185346 chr4 3227404 3227404 C T rs369560571 HTT Synonymous SNV H2594H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.19 185347 chrX 66766044 66766044 A T AR Synonymous SNV A352A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.023 185348 chr6 36884270 36884270 T G C6orf89 Nonsynonymous SNV F256V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25.8 185349 chrX 73068573 73068573 T C rs6528 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 13.65 185350 chr4 37440933 37440933 C G NWD2 Nonsynonymous SNV A406G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.553 185351 chr17 42979819 42979819 G A rs767842505 CCDC103 Synonymous SNV Q121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.149 185352 chr19 11617245 11617245 - TCATTGATGTCAAACTCGTAGTTGTCCCAGCCACTCCTCACATACTCCAGGTCCAGCTGCATCGGGTA ECSIT 0.001 0 0 0 1 0 0 0 0 0 0 0 185353 chr19 11727694 11727694 C T rs375233180 ZNF627 Nonsynonymous SNV R16C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.4 185354 chr19 4510758 4510758 T C PLIN4 Nonsynonymous SNV T1072A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 185355 chr17 45776064 45776064 C T rs965899184 TBKBP1 Nonsynonymous SNV P186L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 185356 chrX 129146962 129146962 C T rs141901231 BCORL1 Nonsynonymous SNV R72W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 185357 chr17 47118755 47118755 C T IGF2BP1 Synonymous SNV P139P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 185358 chr19 4682916 4682916 C G rs776021032 DPP9-AS1 Nonsynonymous SNV Q16E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.055 185359 chr5 179334784 179334784 G A rs773804030 TBC1D9B Nonsynonymous SNV A13V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.2 185360 chr5 180045911 180045911 G A rs34255532 FLT4 Nonsynonymous SNV P954S 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.87 185361 chr10 105889959 105889959 T C rs772653200 CFAP43 Nonsynonymous SNV I1646V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 185362 chr17 48619246 48619246 G A rs202224894 EPN3 Nonsynonymous SNV E543K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 185363 chr19 16861214 16861214 G A rs147243582 NWD1 Synonymous SNV V381V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.517 185364 chr17 56274319 56274319 G C EPX Nonsynonymous SNV R274P 0.002 0 0 0 2 0 0 0 0 0 0 0 33 185365 chr2 179368523 179368523 A G PLEKHA3 Nonsynonymous SNV D271G 0.005 0 0 2 6 0 0.005 0 0 0 0 0 22.9 185366 chr6 54002874 54002874 C T MLIP Synonymous SNV T658T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.307 185367 chr2 179407663 179407663 G A rs72648266 TTN Synonymous SNV I23241I 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.22 185368 chr10 12148254 12148254 A G DHTKD1 Nonsynonymous SNV S636G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 185369 chr2 179449611 179449611 T G TTN Nonsynonymous SNV E12521A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Uncertain significance 20.7 185370 chr19 17438995 17438995 C T rs141292857 ANO8 Synonymous SNV L734L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.97 185371 chr2 179547465 179547465 C T rs72650034 TTN Nonsynonymous SNV R9774Q 0.006 0 0.007 2 7 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.82 185372 chr2 179585257 179585257 G C rs72648972 TTN Nonsynonymous SNV N6500K 0.009 0 0.007 2 11 0 0.005 2 0 0 0 0 Benign/Likely benign 16 185373 chr17 63554271 63554271 G A rs62640025 AXIN2 Synonymous SNV Y156Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.078 185374 chr6 71442130 71442130 T C rs888420664 SMAP1 Synonymous SNV C56C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 1.827 185375 chr19 18266797 18266797 G A rs761735561 PIK3R2 Synonymous SNV A36A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 185376 chr10 127787048 127787048 G C rs555716469 ADAM12 Synonymous SNV T311T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 185377 chr19 18285971 18285971 C T rs374934487 IFI30 Nonsynonymous SNV P85L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 185378 chr6 74405956 74405956 C A CD109 Synonymous SNV L6L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.2 185379 chr19 19655565 19655565 C T CILP2 Synonymous SNV C737C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.254 185380 chr5 5462962 5462962 C T rs1000075257 ICE1 Nonsynonymous SNV T1172I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 185381 chr7 156801739 156801740 CC - rs753593706 MNX1 G3Tfs*140 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 185382 chr17 72341023 72341023 A G rs201328999 KIF19 Nonsynonymous SNV N236D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 185383 chr3 43618366 43618366 T C rs146569520 ANO10 Nonsynonymous SNV Y216C 0.007 0 0.003 0 8 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.61 185384 chr10 135272141 135272141 C T rs555382724 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.782 185385 chr19 34900210 34900210 C T rs61740326 PDCD2L Nonsynonymous SNV R159W 0.001 0 0 0 1 0 0 0 0 0 0 0 29 185386 chr10 101610475 101610475 C T rs142573385 ABCC2 Nonsynonymous SNV T1477M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 21.6 185387 chr4 88732595 88732595 G A rs748954490 IBSP Nonsynonymous SNV E163K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 185388 chr5 75913785 75913785 G A F2RL2 Synonymous SNV H227H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.094 185389 chr7 27182799 27182799 A G rs756590217 HOXA5 Nonsynonymous SNV V143A 0.009 0.005 0 3 11 2 0.008 0 0 0 0 0 11.93 185390 chr5 77805700 77805700 T C rs201076025 LHFPL2 Nonsynonymous SNV M113V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 185391 chr10 102780384 102780384 - C PDZD7 Frameshift insertion L307Afs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 185392 chr10 22541948 22541948 C T rs115071656 LOC100130992 0 0 0.003 0 0 0 0 1 0 0 0 0 9.813 185393 chr10 27328937 27328937 C G rs139949439 ANKRD26 Nonsynonymous SNV E777Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 25.7 185394 chr10 105233333 105233333 C G CALHM3 Nonsynonymous SNV Q224H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 185395 chr19 36602290 36602290 G A OVOL3 Synonymous SNV G38G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.78 185396 chr3 48608356 48608358 CAA - rs777677195 COL7A1 V2403del 0.003 0 0 0 4 0 0 0 0 0 0 0 185397 chr17 76420098 76420098 C A rs138312957 DNAH17 Synonymous SNV V4426V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 14.6 185398 chr3 49848256 49848256 G A rs765530016 UBA7 Nonsynonymous SNV R414C 0.003 0 0 0 4 0 0 0 0 0 0 0 35 185399 chr10 106125644 106125644 G C rs755346650 CFAP58 Nonsynonymous SNV E224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 185400 chr10 30998363 30998363 A G rs12264893 SVIL2P 0 0 0.014 0 0 0 0 4 0 0 0 0 4.724 185401 chr17 76853610 76853610 C G TIMP2 Nonsynonymous SNV E153D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.81 185402 chr17 77078107 77078107 C G rs753581791 ENGASE Nonsynonymous SNV R334G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 185403 chr3 52545733 52545733 G A rs142570156 STAB1 Nonsynonymous SNV R952Q 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 185404 chr19 39214838 39214838 G A rs150938830 ACTN4 Synonymous SNV P578P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.911 185405 chr10 115527234 115527234 G A rs200704795 PLEKHS1 Nonsynonymous SNV D31N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 185406 chr19 39228187 39228187 C T rs771902108 CAPN12 Nonsynonymous SNV G353S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 185407 chr19 15465976 15465976 G A rs144064099 AKAP8 Nonsynonymous SNV T610M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.154 185408 chr19 15514482 15514482 T C rs190950409 AKAP8L Nonsynonymous SNV T56A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.59 185409 chr3 54952644 54952644 C T rs61735203 LRTM1 Nonsynonymous SNV V218I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 Benign 22.7 185410 chr3 56628050 56628050 G A rs149044334 CCDC66 Synonymous SNV E433E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.097 185411 chr10 48426600 48426600 G A rs140915607 GDF10 Synonymous SNV N469N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.94 185412 chr19 41025941 41025941 T C rs774301579 SPTBN4 Synonymous SNV L1179L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 185413 chr19 41939337 41939337 G A rs146603735 DMAC2 Nonsynonymous SNV R119C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 185414 chr19 16682798 16682798 C A SLC35E1 Synonymous SNV A126A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 185415 chr3 64672501 64672501 C A rs61735958 ADAMTS9 Nonsynonymous SNV A87S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.5 185416 chr17 80115824 80115824 C T rs372516791 CCDC57 Nonsynonymous SNV V189M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.1 185417 chr19 42777840 42777840 A G rs926431641 CIC Synonymous SNV P635P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 185418 chr17 80706786 80706786 C A rs148878409 FN3K Nonsynonymous SNV A175E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 185419 chr10 5541026 5541026 C T rs772341873 CALML5 Nonsynonymous SNV A126T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 185420 chr10 55566436 55566436 T G PCDH15 Nonsynonymous SNV E1644A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 185421 chr18 334901 334901 C T rs186088998 COLEC12 Nonsynonymous SNV V553I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 15.08 185422 chr5 137654942 137654942 A C rs745577829 CDC25C Stop gain L121X 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 35 185423 chr10 5948151 5948151 G A rs372170972 FBH1 Synonymous SNV L29L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.665 185424 chr10 6060053 6060053 C T rs143550766 IL2RA Nonsynonymous SNV V157I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.563 185425 chr5 138221941 138221941 T C CTNNA1 Nonsynonymous SNV I265T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 185426 chr10 128973694 128973694 C T rs747451108 INSYN2A Synonymous SNV P322P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.335 185427 chr7 11068439 11068439 G A rs61996283 PHF14 Synonymous SNV A483A 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.777 185428 chr18 6997806 6997806 T C rs148171853 LAMA1 Nonsynonymous SNV T1581A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.4 185429 chr5 139938242 139938242 G C rs143491686 APBB3 Synonymous SNV T470T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 5.898 185430 chr10 133981810 133981810 G A rs186016621 JAKMIP3 Synonymous SNV P962P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.433 185431 chr7 121691961 121691961 G A rs144275429 PTPRZ1 Nonsynonymous SNV G1207S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 185432 chr5 140515320 140515320 T C PCDHB5 Nonsynonymous SNV C102R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.6 185433 chr2 231740385 231740385 G A rs779589675 ITM2C Synonymous SNV L57L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 185434 chr10 72513698 72513719 GAGGCCCGACGGCCCTGTCTCC - rs759505388 ADAMTS14 A959Cfs*65 0 0 0.007 0 0 0 0 2 0 0 0 0 185435 chr19 45911455 45911455 C T CD3EAP Nonsynonymous SNV R79W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 185436 chr7 127014415 127014415 C T rs150608211 ZNF800 Synonymous SNV K325K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.118 185437 chr19 21239701 21239701 A G ZNF430 Nonsynonymous SNV K195R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.958 185438 chr6 142455803 142455803 T C GJE1 Nonsynonymous SNV L121S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.8 185439 chr10 75562241 75562241 G C rs749315697 NDST2 Nonsynonymous SNV R874G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 185440 chr10 7618474 7618474 C G ITIH5 Synonymous SNV S426S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 185441 chr2 234847800 234847800 C T rs200694610 TRPM8 Synonymous SNV I169I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.27 185442 chr10 18828419 18828419 C G rs755387775 CACNB2 Synonymous SNV A528A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 9.433 185443 chr5 14758610 14758610 G C rs140782258 ANKH Synonymous SNV A137A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.876 185444 chr10 81680241 81680241 A G rs34165190 MBL1P 0 0 0.037 0 0 0 0 11 0 0 0 0 3.777 185445 chr6 148855104 148855104 G C rs139143972 SASH1 Synonymous SNV R405R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 185446 chr5 149512494 149512494 C T rs41287112 PDGFRB Nonsynonymous SNV V252M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 14.92 185447 chr18 44057760 44057760 G C LOXHD1 Nonsynonymous SNV P405R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.56 185448 chr5 149907779 149907779 A G rs137903526 NDST1 Synonymous SNV P309P 0.002 0.005 0.003 2 2 2 0.005 1 0 1 0 0 Benign 0.961 185449 chr19 48965642 48965642 A G KCNJ14 Nonsynonymous SNV N221D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 185450 chr4 114823986 114823986 C T rs75252202 ARSJ Nonsynonymous SNV R415Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 34 185451 chr18 44773308 44773308 G C SKOR2 Nonsynonymous SNV H749Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 185452 chr19 49232511 49232511 G C RASIP1 Nonsynonymous SNV R506G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 185453 chr2 241404968 241404968 G A rs144488064 GPC1 Synonymous SNV P449P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.1 185454 chr4 121828712 121828712 C A PRDM5 Nonsynonymous SNV G32C 0.003 0 0 0 4 0 0 0 0 0 0 0 34 185455 chr18 52544899 52544899 G A rs764729616 RAB27B Nonsynonymous SNV R28K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 185456 chr5 153674456 153674456 C T rs182669921 GALNT10 Synonymous SNV I80I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.42 185457 chr10 99130526 99130526 C T rs779173150 RRP12 Nonsynonymous SNV V744M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 185458 chr19 50100853 50100853 C T PRR12 Synonymous SNV P1087P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 185459 chr4 140283059 140283059 C T rs775957552 NAA15 Nonsynonymous SNV T574I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 185460 chr19 51132676 51132676 C T rs200430574 SYT3 Nonsynonymous SNV V386I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 185461 chr18 60383323 60383323 C T rs542055933 PHLPP1 Nonsynonymous SNV A136V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 19.91 185462 chr18 60646006 60646006 C T rs201439333 PHLPP1 Nonsynonymous SNV P1499L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 185463 chr5 167957253 167957253 C T rs150797009 FBLL1 Synonymous SNV D248D 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 18.88 185464 chr19 51647821 51647821 C T rs144612094 SIGLEC7 Nonsynonymous SNV R198C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 185465 chr8 110305614 110305614 T C rs143861307 NUDCD1 Nonsynonymous SNV Y171C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 185466 chr10 49687662 49687662 C A rs371786363 ARHGAP22 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 185467 chr19 52090671 52090671 T A rs60097262 ZNF175 Nonsynonymous SNV Y363N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 185468 chr19 52129290 52129290 T G rs139056611 SIGLEC5 Nonsynonymous SNV T487P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.175 185469 chr19 38993179 38993179 G A rs547811862 RYR1 Synonymous SNV A2549A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 185470 chr8 118169979 118169979 C T rs757129691 SLC30A8 Synonymous SNV G156G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 185471 chr10 50285339 50285339 C T rs45489505 VSTM4 Nonsynonymous SNV V187M 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 22.8 185472 chr19 52569479 52569479 G A rs61738706 ZNF841 Synonymous SNV Y436Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.223 185473 chr19 52570767 52570767 C T rs550291522 ZNF841 Nonsynonymous SNV S7N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.247 185474 chr19 39805248 39805248 G A rs377691202 LRFN1 Synonymous SNV T243T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.914 185475 chr11 102564672 102564672 T C MMP27 Synonymous SNV R386R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.663 185476 chr4 159092562 159092562 A G FAM198B-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 12.05 185477 chr18 74091875 74091875 G A rs773782208 ZNF516 Nonsynonymous SNV P732L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 185478 chr6 17850626 17850626 G A rs201853195 KIF13A Synonymous SNV N215N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 185479 chr2 31215758 31215758 C T rs143263384 GALNT14 Nonsynonymous SNV R82Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.8 185480 chr18 77805799 77805799 G A rs149756081 RBFA Nonsynonymous SNV G226S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.869 185481 chr8 125987907 125987907 G A rs199745502 ZNF572 Nonsynonymous SNV V9I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 185482 chr10 61828649 61828649 A G rs370147674 ANK3 Nonsynonymous SNV I3997T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 185483 chr2 33590475 33590475 C T rs140123646 LTBP1 Nonsynonymous SNV P1171L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 185484 chr10 63520752 63520752 C T rs34291679 CABCOCO1 Synonymous SNV I181I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.57 185485 chr5 179260625 179260625 T C rs988739587 SQSTM1 Synonymous SNV D336D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.807 185486 chr7 2400394 2400394 C T rs58174334 EIF3B Synonymous SNV I183I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 14.91 185487 chr10 64967032 64967032 A C rs750024925 JMJD1C Nonsynonymous SNV V1247G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 185488 chr11 110035429 110035429 A G rs558671932 ZC3H12C Nonsynonymous SNV N540S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.14 185489 chr11 113130951 113130951 G T rs17115280 NCAM1 Nonsynonymous SNV E669D 0 0 0.01 0 0 0 0 3 0 0 0 0 16.6 185490 chr5 180480254 180480254 C G BTNL9 Nonsynonymous SNV P264R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 185491 chr19 44378207 44378207 G C rs775657404 ZNF404 Nonsynonymous SNV S50R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 185492 chr6 2766645 2766645 G A rs750767099 WRNIP1 Synonymous SNV S263S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.011 185493 chr11 114442082 114442082 A G rs185998472 NXPE4 Nonsynonymous SNV S405P 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 13.98 185494 chr8 141711002 141711002 C T rs140437945 PTK2 Synonymous SNV E139E 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Likely benign 14.68 185495 chr19 1506063 1506063 G A rs200029215 ADAMTSL5 Nonsynonymous SNV P456L 0.003 0 0 0 3 0 0 0 0 0 0 0 26 185496 chr11 117261837 117261837 A C CEP164 Nonsynonymous SNV E733A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 185497 chr11 118352702 118352702 C G rs782491835 KMT2A Nonsynonymous SNV L1303V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.317 185498 chr10 74714250 74714250 T C PLA2G12B Nonsynonymous SNV Q65R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 185499 chr6 34003771 34003771 G A rs780655548 GRM4 Nonsynonymous SNV L590F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 185500 chr6 34389563 34389563 G A rs774624551 RPS10, RPS10-NUDT3 Nonsynonymous SNV A115V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 185501 chr10 75156291 75156291 T C rs147037874 ANXA7 Nonsynonymous SNV T101A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.313 185502 chr19 45208936 45208936 G A rs199779296 CEACAM16 Synonymous SNV T246T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.78 185503 chr10 76854612 76854612 A G rs145951301 DUSP13 Nonsynonymous SNV M190T 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 185504 chr19 3816769 3816769 C G ZFR2 Nonsynonymous SNV R669P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 185505 chr8 144874196 144874196 G T rs781801208 SCRIB Nonsynonymous SNV S1541Y 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.4 185506 chr19 56206127 56206127 C G EPN1 Nonsynonymous SNV R408G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 185507 chr19 46181024 46181024 T G rs373040041 GIPR Nonsynonymous SNV L268R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 185508 chr4 30723452 30723452 C G rs925469298 PCDH7 Nonsynonymous SNV I136M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 185509 chr10 87487771 87487771 T C rs142172855 GRID1 Synonymous SNV G458G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.168 185510 chr10 89621759 89621759 G - KLLN K163Nfs*19 0.001 0 0.003 0 1 0 0 1 0 0 0 0 185511 chr11 124189647 124189647 G A rs142738979 OR8D2 Synonymous SNV Y149Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.187 185512 chr19 47969114 47969114 C T rs750524681 SLC8A2 Nonsynonymous SNV V183I 0.001 0 0 0 1 0 0 0 0 0 0 0 22 185513 chr4 38799449 38799449 C A TLR1 Nonsynonymous SNV G335V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 185514 chr4 38879818 38879818 C T rs34137542 FAM114A1 Nonsynonymous SNV S40L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.057 185515 chr8 145621699 145621699 G A rs782162243 CPSF1 Nonsynonymous SNV P948L 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 22.8 185516 chr19 5456459 5456459 C T ZNRF4 Synonymous SNV G319G 0.003 0 0 0 3 0 0 0 0 0 0 0 16 185517 chr5 6714450 6714450 C T rs572243411 TENT4A Synonymous SNV N118N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 185518 chr4 437520 437520 C T rs367900463 ZNF721 Nonsynonymous SNV E246K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.76 185519 chr4 437543 437543 T C rs200530483 ZNF721 Nonsynonymous SNV K238R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 185520 chr10 98273401 98273401 C T rs973475328 TLL2 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 185521 chr5 71491950 71491950 T C rs143194383 MAP1B Nonsynonymous SNV I797T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 185522 chr19 58861893 58861893 G A rs767724765 A1BG Synonymous SNV R345R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.301 185523 chr6 54806647 54806647 C T rs145623856 FAM83B Nonsynonymous SNV R960C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 185524 chr19 50306248 50306248 T G AP2A1 Nonsynonymous SNV D719E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.263 185525 chr20 1592352 1592352 A T rs139138248 SIRPB1 Synonymous SNV A28A 0.002 0 0 0 2 0 0 0 1 0 0 0 1.256 185526 chr7 71130575 71130575 G A rs575395276 GALNT17 Synonymous SNV P420P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.29 185527 chr20 1895752 1895752 G A rs144655040 SIRPA Synonymous SNV A29A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.192 185528 chr4 6330994 6330994 G A rs757014009 PPP2R2C Synonymous SNV S335S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.841 185529 chr5 78919220 78919220 T G TENT2 Nonsynonymous SNV Y125D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.56 185530 chr11 2434201 2434201 C T rs1030994131 TRPM5 Nonsynonymous SNV R713Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 185531 chr4 7002878 7002878 C T TBC1D14 Synonymous SNV C110C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.1 185532 chr8 27145261 27145261 C A rs199652032 TRIM35 Nonsynonymous SNV V430L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 185533 chr6 79770386 79770386 T C rs146765729 PHIP Synonymous SNV K113K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.42 185534 chr8 27528615 27528615 G T rs779257703 SCARA3 Nonsynonymous SNV G523V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 185535 chr6 88170802 88170802 G A rs149608815 CFAP206 Synonymous SNV T519T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.48 185536 chr7 82785648 82785648 C G rs772862667 PCLO Synonymous SNV G103G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.58 185537 chr8 31014939 31014939 C A rs142614369 WRN Nonsynonymous SNV S1292Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.823 185538 chr8 35583721 35583721 G A rs190579280 UNC5D Nonsynonymous SNV R447Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 185539 chr11 35243273 35243273 G A rs61752932 CD44 Nonsynonymous SNV R271Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 35 185540 chr3 119133383 119133383 G A ARHGAP31 Synonymous SNV E869E 0 0.005 0 2 0 2 0.005 0 0 0 0 0 4.92 185541 chr7 100033847 100033847 C T rs771520399 PPP1R35 Nonsynonymous SNV D51N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 185542 chr19 9492004 9492004 A G ZNF177, ZNF559-ZNF177 Nonsynonymous SNV T333A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 185543 chr11 104877885 104877885 G T rs745571593 CASP5 Synonymous SNV R62R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.539 185544 chr4 8228944 8228944 C T SH3TC1 Nonsynonymous SNV A432V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.313 185545 chr20 19937392 19937392 C T RIN2 Synonymous SNV L98L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.7 185546 chr11 108547827 108547827 T A rs542987609 DDX10 Nonsynonymous SNV Y132N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 185547 chr8 104387967 104387967 A C CTHRC1 Nonsynonymous SNV Y37S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.2 185548 chr19 55481639 55481639 G A NLRP2 Nonsynonymous SNV E86K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 185549 chr19 14001070 14001070 C T C19orf57 Nonsynonymous SNV G82E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 185550 chr8 118165294 118165294 C T rs753601826 SLC30A8 Nonsynonymous SNV P128L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 185551 chr11 118963199 118963199 G A rs201909197 HMBS Nonsynonymous SNV R246H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 185552 chr3 129238544 129238544 C T IFT122 Nonsynonymous SNV A1092V 0 0 0 3 0 0 0.008 0 0 0 0 0 15.77 185553 chr8 124978469 124978469 T C rs375114520 FER1L6 Nonsynonymous SNV I108T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 185554 chr11 4929018 4929018 G A rs778988096 OR51A7 Nonsynonymous SNV R140K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.304 185555 chr20 37179733 37179733 G A rs768437434 RALGAPB Nonsynonymous SNV R1010H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 185556 chr6 137322827 137322827 A G rs148959606 IL20RA Synonymous SNV D399D 0 0.005 0 0 0 2 0 0 0 0 0 0 1.361 185557 chr19 15276640 15276640 G A rs200103009 NOTCH3 Synonymous SNV P1875P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 185558 chr20 37464755 37464755 A G rs144779599 PPP1R16B Nonsynonymous SNV K63E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 185559 chr11 5080077 5080077 T C rs74458775 OR52E2 Nonsynonymous SNV M261V 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 23.1 185560 chr11 5080771 5080771 G A rs116709433 OR52E2 Synonymous SNV I29I 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 6.743 185561 chr5 112419852 112419852 G A rs780358275 MCC Synonymous SNV S337S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.14 185562 chr20 43726908 43726908 C T rs368048059 KCNS1 Nonsynonymous SNV E169K 0.003 0 0 0 3 0 0 0 0 0 0 0 26.7 185563 chr9 104317016 104317016 A G RNF20 Nonsynonymous SNV K687R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 185564 chr19 16059838 16059838 C A rs766797472 OR10H4 Nonsynonymous SNV S7R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.26 185565 chr5 126774176 126774176 A G rs116135607 MEGF10 Nonsynonymous SNV N717S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.615 185566 chr3 136019876 136019876 C T rs549397464 PCCB Nonsynonymous SNV R297C 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 185567 chr7 117267812 117267812 T G rs34911792 CFTR Nonsynonymous SNV S1235R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.19 185568 chr5 128796881 128796881 A C rs536433925 ADAMTS19 Nonsynonymous SNV S60R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 185569 chr5 129240684 129240684 C A CHSY3 Synonymous SNV G54G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 185570 chr20 50312666 50312666 G A rs566080700 ATP9A Synonymous SNV A171A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 185571 chr5 131630447 131630447 G A rs767014071 SLC22A4 Synonymous SNV P46P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.58 185572 chr9 115806268 115806268 C T rs546714808 ZFP37 Synonymous SNV K225K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.27 185573 chr11 1271991 1271991 C T rs748768264 MUC5B Synonymous SNV T4627T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.042 185574 chr20 56139414 56139414 C T PCK1 Nonsynonymous SNV T384M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 185575 chr9 116357251 116357251 G C rs147490572 RGS3 Nonsynonymous SNV V49L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.346 185576 chr7 129122705 129122705 C T STRIP2 Nonsynonymous SNV A691V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 185577 chr11 134182253 134182253 C G rs200082150 GLB1L3 Nonsynonymous SNV S433W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 185578 chr11 134184229 134184229 G A rs201605779 GLB1L3 Nonsynonymous SNV R558H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.264 185579 chr9 120176836 120176836 C A ASTN2 Synonymous SNV L127L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 185580 chr7 132937886 132937886 A T rs766383620 EXOC4 Nonsynonymous SNV Y10F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 185581 chr9 123805369 123805369 A C C5 Nonsynonymous SNV S118A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.03 185582 chr19 18896633 18896633 G A rs149083265 COMP Synonymous SNV D506D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.88 185583 chr11 16812698 16812698 C T rs752789872 PLEKHA7 Nonsynonymous SNV E932K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 185584 chr11 16838347 16838347 C T rs778677492 PLEKHA7 Synonymous SNV K622K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.45 185585 chr11 17532010 17532010 T C rs752030009 USH1C Nonsynonymous SNV E491G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 29.7 185586 chr11 17757982 17757982 G C rs759773311 KCNC1 Nonsynonymous SNV G145R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 185587 chr20 61834854 61834854 C T rs563225888 YTHDF1 Synonymous SNV A146A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.11 185588 chr3 159944142 159944142 C T rs185340430 C3orf80 Synonymous SNV G240G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21 185589 chr11 18735626 18735626 - GG rs765263638 IGSF22 Frameshift insertion H623Pfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 185590 chr7 140374534 140374534 T A ADCK2 Nonsynonymous SNV F353I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 185591 chr6 168370564 168370564 G A rs200084571 AFDN Synonymous SNV V1727V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.044 185592 chr20 5086918 5086918 G A rs147693982 TMEM230 Synonymous SNV I46I 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 8.579 185593 chr6 168376847 168376847 - AGGAGGCAGTGGGGGTCACTCTCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGG HGC6.3 Stop gain T167Cfs*34 0 0.005 0 2 0 2 0.005 0 0 1 0 0 185594 chr11 57886806 57886806 G T rs138684909 OR9I1 Synonymous SNV V37V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.032 185595 chr11 20622979 20622979 C T rs773816036 SLC6A5 Nonsynonymous SNV A103V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.888 185596 chr11 58126031 58126031 A G rs762760947 OR5B17 Nonsynonymous SNV V171A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.38 185597 chr19 34985492 34985492 G A rs996902583 WTIP Nonsynonymous SNV V345I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 185598 chr9 130868732 130868732 A G rs745548531 SLC25A25 Nonsynonymous SNV Y370C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.7 185599 chr9 131370208 131370208 C T rs200180598 SPTAN1 Synonymous SNV H1388H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 13.32 185600 chr9 131757724 131757724 C T rs372501729 NUP188 Synonymous SNV C1094C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.1 185601 chr21 31538430 31538430 C A CLDN17 Nonsynonymous SNV W169L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 185602 chr3 184039172 184039172 C T rs750295877 EIF4G1 Nonsynonymous SNV S71L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 185603 chr8 18729207 18729207 C T rs148176505 PSD3 Synonymous SNV E356E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 185604 chr3 186006621 186006621 G T DGKG Nonsynonymous SNV A141E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.817 185605 chr19 37210943 37210943 T C rs774554517 ZNF567 Synonymous SNV H408H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.252 185606 chr5 148754024 148754024 G A rs550871130 IL17B Nonsynonymous SNV R99C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 185607 chr3 189838208 189838208 C T rs200308609 P3H2 Nonsynonymous SNV A105T 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 10.89 185608 chr8 22864938 22864938 G A rs146017675 RHOBTB2 Nonsynonymous SNV V401M 0.002 0 0 0 2 0 0 0 0 0 0 0 17.66 185609 chr11 35016659 35016659 G T PDHX Synonymous SNV L255L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.347 185610 chr11 35016660 35016660 G T PDHX Nonsynonymous SNV A256S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 29.1 185611 chr11 617704 617704 C T rs199786415 CDHR5 Nonsynonymous SNV V535I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.08 185612 chr11 35641131 35641131 C G rs148087489 FJX1 Nonsynonymous SNV P316R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29 185613 chr21 38878512 38878512 A G rs759183785 DYRK1A Nonsynonymous SNV T515A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.57 185614 chr11 3687495 3687495 C T rs138310150 CHRNA10 Nonsynonymous SNV V193I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 185615 chr3 194991582 194991582 G C XXYLT1 Nonsynonymous SNV P69R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.002 185616 chr5 151234642 151234642 T C rs773542781 GLRA1 Nonsynonymous SNV E136G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 185617 chr5 154272016 154272016 C T GEMIN5 Nonsynonymous SNV V1230M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 185618 chr8 27277564 27277564 G A rs772033077 PTK2B Synonymous SNV E119E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.26 185619 chr9 138236121 138236121 A G rs1023021252 C9orf62 Synonymous SNV A109A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.949 185620 chr5 158630548 158630548 C T rs780401449 RNF145 Synonymous SNV L56L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 185621 chr5 159546070 159546070 C T PWWP2A Nonsynonymous SNV G109E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 185622 chr11 47498942 47498942 G A rs779751311 CELF1 Synonymous SNV L267L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 185623 chr5 161317925 161317925 C G GABRA1 Nonsynonymous SNV T242S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 185624 chr8 37688944 37688944 G A rs147453371 ADGRA2 Synonymous SNV E312E 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 5.688 185625 chr20 44453174 44453174 C T rs144632671 TNNC2 Synonymous SNV K53K 0.004 0 0 0 5 0 0 0 0 0 0 0 15.62 185626 chr5 167653121 167653121 G A rs369050319 TENM2 Nonsynonymous SNV V1474M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 185627 chr9 139748740 139748740 G A rs772823251 MAMDC4 Nonsynonymous SNV G250R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 185628 chr3 36778711 36778711 C T rs116865058 DCLK3 Synonymous SNV P480P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.94 185629 chr9 140005172 140005174 GAT - rs556718103 DPP7 I469del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 185630 chr21 46078008 46078008 G A rs782173625 KRTAP12-3 Nonsynonymous SNV V38M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 185631 chr5 176316667 176316667 A G HK3 Nonsynonymous SNV C237R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.8 185632 chr6 42989434 42989451 CGGGGCCCGACGTCCCCG - rs202053592 RRP36 R18_R23del 0.001 0.005 0.003 0 1 2 0 1 0 1 0 0 185633 chr20 55027659 55027659 T C rs146122261 CASS4 Nonsynonymous SNV I422T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 185634 chr21 46930147 46930147 G A rs201006742 COL18A1 Nonsynonymous SNV R1399H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.8 185635 chr5 176887453 176887453 G A rs140640004 DBN1 Nonsynonymous SNV S44L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 185636 chr5 177733883 177733883 G A rs375391176 COL23A1 Synonymous SNV G133G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 185637 chr7 36633996 36633996 A G rs755456110 AOAH Nonsynonymous SNV L264P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 185638 chr21 47662815 47662815 A G rs146864331 MCM3AP Nonsynonymous SNV V1776A 0.003 0 0 0 3 0 0 0 0 0 0 0 28.2 185639 chr11 4928691 4928691 T C rs147018668 OR51A7 Nonsynonymous SNV I31T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.2 185640 chr21 47831412 47831412 C G PCNT Nonsynonymous SNV Q1691E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 185641 chr8 73480089 73480089 T G KCNB2 Nonsynonymous SNV N40K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 185642 chr3 439968 439968 G C rs143272020 CHL1 Nonsynonymous SNV E1035D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 185643 chr20 60893637 60893637 C T rs138002973 LAMA5 Nonsynonymous SNV R2371H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 17.53 185644 chr11 68204388 68204388 G A rs749805373 LRP5 Synonymous SNV A763A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 185645 chr7 47342809 47342809 G A TNS3 Synonymous SNV L1066L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.92 185646 chr19 46375581 46375581 G A rs759688224 FOXA3 Synonymous SNV P106P 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 9.318 185647 chr3 47030602 47030602 G A NBEAL2 Synonymous SNV R92R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.413 185648 chr5 37303392 37303392 C T rs148111764 NUP155 Nonsynonymous SNV R1032H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 185649 chr11 75277581 75277581 G A rs758261919 SERPINH1 Nonsynonymous SNV A63T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 185650 chr11 7531238 7531238 G A rs142797668 OLFML1 Nonsynonymous SNV C207Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 185651 chr6 70386105 70386105 C A LMBRD1 Nonsynonymous SNV G450V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 185652 chr6 70459276 70459276 T C rs12214456 LMBRD1 Nonsynonymous SNV T71A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 185653 chr11 7649531 7649531 G A rs111709242 PPFIBP2 Nonsynonymous SNV R138H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.6 185654 chr11 76873298 76873298 C T MYO7A Synonymous SNV N492N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 185655 chr7 54612466 54612466 G A VSTM2A Synonymous SNV E77E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.216 185656 chr19 49104391 49104391 C T FAM83E Nonsynonymous SNV R471Q 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 5.938 185657 chr9 112898410 112898410 C G rs749178187 PALM2AKAP2 Nonsynonymous SNV P54A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 185658 chr9 112900027 112900027 G A rs374775759 PALM2AKAP2 Nonsynonymous SNV G593R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 185659 chr11 85606335 85606335 G T CCDC83 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 185660 chr11 85606338 85606338 C A rs749065645 CCDC83 Nonsynonymous SNV H172N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 185661 chr3 52378570 52378570 A G rs76591348 DNAH1 Nonsynonymous SNV K451E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 185662 chr11 85694930 85694930 T C rs768978248 PICALM Nonsynonymous SNV N449D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 185663 chr7 6682178 6682178 - GAG ZNF316 E50_I51insE 0.001 0 0 0 1 0 0 0 0 0 0 0 185664 chr5 6743833 6743833 A T rs141878766 TENT4A Synonymous SNV S375S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.997 185665 chr5 71495179 71495179 C T rs146865737 MAP1B Synonymous SNV H1873H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.024 185666 chr11 95519380 95519380 C T rs200608990 FAM76B Nonsynonymous SNV R89H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 185667 chr11 95712636 95712636 C G rs748451751 MAML2 Nonsynonymous SNV G983R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 185668 chr12 100555486 100555486 G A rs141993659 GOLGA2P5 0 0 0.007 0 0 0 0 2 0 0 0 0 0.128 185669 chr7 87165817 87165817 G C rs201744003 ABCB1 Nonsynonymous SNV A813G 0.003 0 0 0 4 0 0 0 0 0 0 0 29 185670 chrX 103499014 103499014 C G rs782185750 ESX1 Nonsynonymous SNV E109D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 185671 chrX 107976887 107976887 T C IRS4 Synonymous SNV T896T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 185672 chrX 108902650 108902650 A G rs780359191 ACSL4 Synonymous SNV V637V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.891 185673 chr21 45172452 45172452 C T rs117532045 PDXK Synonymous SNV S148S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 185674 chr22 39262225 39262225 C G rs192765829 CBX6 Nonsynonymous SNV A392P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 4.228 185675 chr21 45678469 45678469 G A rs76057063 DNMT3L Synonymous SNV S151S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.821 185676 chr3 87017961 87017961 C G rs202199504 VGLL3 Nonsynonymous SNV R239P 0 0 0 2 0 0 0.005 0 0 0 0 0 21.6 185677 chr19 52919017 52919017 G A ZNF528 Synonymous SNV K304K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.571 185678 chr12 109042507 109042507 C T CORO1C Synonymous SNV G446G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 185679 chr22 42461829 42461829 G A rs762986390 NAGA Synonymous SNV S224S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.544 185680 chrX 135631119 135631119 G C rs772818940 VGLL1 Nonsynonymous SNV A196P 0.002 0 0 0 2 0 0 0 0 0 0 0 15 185681 chr19 54659640 54659640 C T rs148137418 LENG1 Nonsynonymous SNV R205Q 0.003 0 0 0 3 0 0 0 0 0 0 0 11.84 185682 chr5 95084061 95084061 T A RHOBTB3 Nonsynonymous SNV L147Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29 185683 chr12 113557001 113557001 C G rs762964830 RASAL1 Nonsynonymous SNV A192P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 185684 chr8 110099922 110099922 A G rs145365134 TRHR Nonsynonymous SNV N61D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 185685 chr8 11301660 11301660 C T rs747561326 FAM167A Synonymous SNV E87E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.206 185686 chr12 114380175 114380175 C T rs202108762 RBM19 Nonsynonymous SNV R564Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 33 185687 chr12 114397048 114397048 A G rs374622887 RBM19 Synonymous SNV S180S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 8.942 185688 chr8 116617005 116617005 A G TRPS1 Synonymous SNV P388P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 185689 chr12 118472867 118472867 T A rs117882038 WSB2 Nonsynonymous SNV T116S 0 0 0.01 0 0 0 0 3 0 0 0 0 14.21 185690 chr4 110791112 110791112 T C LRIT3 Nonsynonymous SNV S403P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.31 185691 chr5 98215264 98215264 C T rs370760984 CHD1 Nonsynonymous SNV A1077T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 185692 chr8 121243730 121243730 T C COL14A1 Nonsynonymous SNV L741P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 185693 chr6 106967387 106967387 T C CRYBG1 Synonymous SNV N360N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 185694 chr12 121877676 121877676 G A rs200896410 KDM2B Synonymous SNV T1202T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 185695 chr12 122181552 122181552 C T rs201114548 TMEM120B Synonymous SNV Y29Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.65 185696 chr12 122252346 122252346 T A SETD1B Nonsynonymous SNV L742Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.138 185697 chr4 121958473 121958473 T C rs202221151 NDNF Nonsynonymous SNV E218G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 185698 chr12 122676103 122676103 G A rs773144736 LRRC43 Nonsynonymous SNV V360I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.612 185699 chr22 23634790 23634790 G A rs2229038 BCR Nonsynonymous SNV V949I 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign/Likely benign 25.2 185700 chr19 56029570 56029570 G T rs749076657 SSC5D Synonymous SNV T1309T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.991 185701 chr19 56029573 56029573 C T rs754825722 SSC5D Synonymous SNV T1310T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.177 185702 chr19 56029577 56029577 T G rs200457993 SSC5D Nonsynonymous SNV Y1312D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.183 185703 chr19 56029579 56029579 C T rs772278975 SSC5D Synonymous SNV Y1312Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.247 185704 chr19 56029588 56029588 T A rs777889979 SSC5D Synonymous SNV T1315T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.771 185705 chr19 56029591 56029591 T C rs747072195 SSC5D Synonymous SNV T1316T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 185706 chr19 56029595 56029595 G C rs201516796 SSC5D Nonsynonymous SNV D1318H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 185707 chr19 56029597 56029597 T C rs777229189 SSC5D Synonymous SNV D1318D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 185708 chr12 125497128 125497128 G A rs139448345 BRI3BP Nonsynonymous SNV V88M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.989 185709 chr11 60233569 60233569 A G MS4A1 Nonsynonymous SNV N171S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 185710 chr12 129308408 129308408 - GCCGCC SLC15A4 A27_G28insAA 0 0.003 0.003 0 0 1 0 1 0 0 0 0 185711 chr7 128415814 128415814 G A rs55974922 OPN1SW Synonymous SNV L11L 0.003 0.005 0.007 5 3 2 0.013 2 0 0 0 0 Benign 1.276 185712 chr12 13136954 13136954 G A rs151085057 GPRC5D-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 4.191 185713 chr12 13154164 13154164 G C rs139884751 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.218 185714 chr11 608091 608091 G A rs764078967 PHRF1 Nonsynonymous SNV V879I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 185715 chr9 138903670 138903670 C T rs7043846 NACC2 Nonsynonymous SNV A486T 0.003 0 0 0 3 0 0 0 0 0 0 0 5.322 185716 chr4 147724718 147724718 C T TTC29 Synonymous SNV Q407Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.01 185717 chrX 69478512 69478512 A G P2RY4 Synonymous SNV C321C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 185718 chr12 132636890 132636890 C G rs772335707 NOC4L Nonsynonymous SNV Q499E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 185719 chrX 44386522 44386522 C T rs749927229 FUNDC1 Synonymous SNV A117A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 14.49 185720 chr6 13307862 13307862 G A rs200508983 TBC1D7, TBC1D7-LOC100130357 Nonsynonymous SNV A185V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 185721 chr9 139925994 139925994 T A FUT7 Nonsynonymous SNV D66V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.8 185722 chrX 51150390 51150390 A G EZHIP Synonymous SNV P174P 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.059 185723 chrX 51488474 51488474 T C rs782337340 GSPT2 Synonymous SNV A584A 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.003 185724 chr9 139983424 139983424 C T rs372332688 MAN1B1 Synonymous SNV T144T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.64 185725 chr7 141313965 141313965 G A rs770394329 AGK Nonsynonymous SNV R137Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.2 185726 chr12 25054787 25054787 G A rs17374606 BCAT1 Synonymous SNV T13T 0.004 0.008 0.02 6 5 3 0.015 6 0 0 0 0 Benign 7.892 185727 chr7 142836646 142836646 C T rs75076193 PIP Nonsynonymous SNV R118W 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 23.3 185728 chr22 38150963 38150963 A G rs772484377 TRIOBP Nonsynonymous SNV K107R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 185729 chr22 38690399 38690399 T C rs369141815 CSNK1E, TPTEP2-CSNK1E Nonsynonymous SNV S343G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.79 185730 chr11 64597093 64597093 G A rs753398950 CDC42BPG Nonsynonymous SNV R1273C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 185731 chr9 2123856 2123856 G A SMARCA2 Synonymous SNV E1300E 0.002 0.003 0 5 2 1 0.013 0 0 0 0 1 11.18 185732 chrX 102962435 102962435 T C rs145491863 GLRA4 0.003 0.005 0 2 4 2 0.005 0 0 1 0 1 Benign 21.4 185733 chr12 44166074 44166074 A G rs780877191 IRAK4 Synonymous SNV T9T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.058 185734 chrX 105451494 105451494 C G PWWP3B Nonsynonymous SNV A690G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.24 185735 chr7 149558749 149558749 G A rs762627429 ZNF862 Nonsynonymous SNV G834S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.794 185736 chr22 43608464 43608464 C T rs758366676 SCUBE1 Nonsynonymous SNV G730S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 185737 chr20 3675108 3675108 G A rs750020593 SIGLEC1 Nonsynonymous SNV R1006C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 185738 chr8 195887 195887 G C ZNF596 Nonsynonymous SNV C347S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 185739 chr8 20038422 20038422 C T rs148621980 SLC18A1 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 185740 chr7 151065829 151065829 G A NUB1 Synonymous SNV Q392Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.81 185741 chr10 121582653 121582653 G A rs150950209 INPP5F Synonymous SNV A91A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.96 185742 chr12 50027248 50027248 G C rs778921618 PRPF40B Synonymous SNV S144S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.63 185743 chrX 129201189 129201189 G A rs145281864 ELF4 Nonsynonymous SNV A500V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.213 185744 chr12 50152473 50152473 G A rs780953621 TMBIM6 Synonymous SNV L205L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 185745 chr10 123279528 123279528 C T FGFR2 Nonsynonymous SNV G187R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 185746 chr22 45958897 45958897 G A rs138959755 FBLN1 Synonymous SNV A601A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 185747 chr8 22034087 22034087 G A BMP1 Nonsynonymous SNV E159K 0.001 0 0 0 1 0 0 0 0 0 0 0 30 185748 chr7 155534650 155534650 G A rs376218605 RBM33 Synonymous SNV T729T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 185749 chr10 124389947 124389947 G T rs7099177 DMBT1 Nonsynonymous SNV R1232L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 185750 chr6 160978479 160978479 C T rs41264306 LPA Nonsynonymous SNV V1586I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.595 185751 chr8 23147515 23147515 C T rs753780437 R3HCC1 Nonsynonymous SNV R129C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 185752 chr4 3076624 3076624 - CAG HTT Q38_P39insQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 185753 chr20 17597404 17597404 C T rs371306215 RRBP1 Synonymous SNV A1280A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.56 185754 chr6 16327903 16327903 - TGCTGCTGA rs780549091 ATXN1 Q212_Q213insHQQ 0.004 0 0 1 5 0 0.003 0 0 0 0 0 185755 chr22 50694627 50694627 A T rs758229661 MAPK12 Nonsynonymous SNV I159N 0.001 0 0 0 1 0 0 0 0 0 0 0 29 185756 chr22 50714390 50714390 C T rs372835571 PLXNB2 Synonymous SNV A1780A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.376 185757 chr8 27151632 27151632 T A rs149727000 TRIM35 Nonsynonymous SNV M211L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.93 185758 chrX 152821663 152821663 C A rs782475118 ATP2B3 Synonymous SNV R739R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 185759 chrX 153594784 153594784 C T rs201681328 FLNA Nonsynonymous SNV V374M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25.7 185760 chr11 69482298 69482298 G A rs372898685 LTO1 Nonsynonymous SNV L135F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 185761 chrX 153714251 153714251 C T rs149580851 UBL4A Synonymous SNV L74L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Benign 10.07 185762 chr12 53670628 53670628 C T rs748052663 ESPL1 Nonsynonymous SNV T642M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 185763 chr11 71175174 71175174 G A rs142412970 NADSYN1 Synonymous SNV P131P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.407 185764 chr8 37696483 37696483 G A rs143113584 ADGRA2 Nonsynonymous SNV A757T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.65 185765 chr1 982031 982031 G A rs201651738 AGRN Nonsynonymous SNV A1056T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.35 185766 chr8 38314912 38314912 A T FGFR1 Nonsynonymous SNV L18H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 185767 chr8 38684926 38684926 C T rs781532579 TACC1 Nonsynonymous SNV H370Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 185768 chrX 17819432 17819432 C T rs147393133 RAI2 Synonymous SNV P233P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.625 185769 chrX 23019417 23019417 C T rs754046377 DDX53 Nonsynonymous SNV R415C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 185770 chr4 48037840 48037840 A G NIPAL1 Nonsynonymous SNV N295S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 185771 chrX 24745161 24745161 C T rs145623455 POLA1 Nonsynonymous SNV P502S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 185772 chr6 26285665 26285665 C T rs144666631 H4C8 Synonymous SNV K21K 0.002 0 0 4 2 0 0.01 0 0 0 0 0 12.73 185773 chrX 30849565 30849565 G A rs764020644 TAB3 Synonymous SNV C706C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.241 185774 chr4 55981110 55981110 T C rs373521029 KDR Nonsynonymous SNV M197V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.563 185775 chr11 75139544 75139544 C T rs751493702 KLHL35 Nonsynonymous SNV G337S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 185776 chr12 56679743 56679743 T C CS Nonsynonymous SNV Q53R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 185777 chrX 41082588 41082588 A G USP9X Synonymous SNV L2228L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.663 185778 chr12 56815239 56815239 G A rs554407178 TIMELESS Nonsynonymous SNV R921C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 185779 chr20 37380862 37380862 G C ACTR5 Nonsynonymous SNV G232R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 185780 chr12 57108461 57108461 T C rs148340957 NACA Synonymous SNV T27T 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 6.23 185781 chrX 51639813 51639813 G A rs138624949 MAGED1 Synonymous SNV V354V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.242 185782 chr6 34256568 34256568 A T rs201459828 NUDT3, RPS10-NUDT3 Nonsynonymous SNV S161T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.54 185783 chr10 21827826 21827826 G A rs778545162 MLLT10 Synonymous SNV E75E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 185784 chr6 35467920 35467920 C T rs181172036 TULP1 Nonsynonymous SNV G392S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 25.9 185785 chrX 65417554 65417554 C T rs151003259 HEPH Nonsynonymous SNV P244S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.22 185786 chr8 71646548 71646548 T C rs116289101 XKR9 Synonymous SNV I337I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.627 185787 chr12 6457249 6457249 C T rs781687956 SCNN1A Synonymous SNV R659R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.52 185788 chr11 78381067 78381067 T C rs199597334 TENM4 Nonsynonymous SNV Y2108C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.1 185789 chr1 9075231 9075231 G A rs773128823 SLC2A7 Synonymous SNV P220P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 185790 chr8 86019544 86019544 C A rs200933031 LRRCC1 Nonsynonymous SNV A5E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 185791 chr6 38821091 38821091 C T rs111580219 DNAH8 Nonsynonymous SNV L1684F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 22.7 185792 chr12 69082824 69082824 A G rs201609471 NUP107 Nonsynonymous SNV R31G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 185793 chr1 9416127 9416127 C T rs112547723 SPSB1 Synonymous SNV N59N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.92 185794 chr6 38885053 38885053 T G rs146031264 DNAH8 Synonymous SNV L3176L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.883 185795 chr6 38941502 38941502 G A rs59067570 DNAH8 Synonymous SNV T3980T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.469 185796 chr12 69993670 69993670 T C rs774243986 CCT2 Nonsynonymous SNV M441T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 185797 chr11 85365186 85365186 C T rs149739249 TMEM126A Nonsynonymous SNV R56C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 185798 chr11 85420442 85420442 C T SYTL2 Synonymous SNV E35E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 185799 chr20 49458366 49458366 C A rs201242829 BCAS4 Synonymous SNV R140R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 185800 chr8 97270833 97270833 C T rs113965668 MTERF3 Nonsynonymous SNV R29H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.108 185801 chr6 44116352 44116352 C T rs748031543 TMEM63B Synonymous SNV T408T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.81 185802 chrX 129339273 129339273 T C rs191895201 ZNF280C Nonsynonymous SNV N720S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.18 185803 chr12 82824742 82824742 T G rs146381244 METTL25 Synonymous SNV R363R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.618 185804 chr9 101606415 101606415 A G rs764920800 GALNT12 Nonsynonymous SNV Y461C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.1 185805 chr12 89745767 89745767 C T DUSP6 Nonsynonymous SNV S17N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 185806 chrX 153592450 153592450 C G FLNA Synonymous SNV P740P 0.001 0 0 2 1 0 0.005 0 0 0 0 1 13.85 185807 chrX 149013249 149013249 C T rs143905132 MAGEA8 Nonsynonymous SNV A68V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 185808 chr9 107288802 107288802 G A rs757616110 OR13C4 Nonsynonymous SNV S230L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.29 185809 chr12 96986286 96986286 G A rs577028628 CFAP54 Synonymous SNV L1077L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.933 185810 chrX 22010795 22010795 A C rs61732077 SMS Synonymous SNV S289S 0.005 0 0 7 6 0 0.018 0 1 0 0 3 Benign/Likely benign 3.434 185811 chrX 152826183 152826183 G A rs146440948 ATP2B3 Synonymous SNV S963S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.649 185812 chr9 112898599 112898599 G A rs139544328 PALM2-AKAP2 Nonsynonymous SNV A117T 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 8.221 185813 chr9 112898639 112898639 A T PALM2AKAP2 Nonsynonymous SNV H130L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.87 185814 chrX 153640328 153640328 C A rs781904453 TAZ Nonsynonymous SNV P50T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.307 185815 chr13 103387043 103387043 C T rs189464016 CCDC168 Nonsynonymous SNV R5335Q 0 0 0.014 0 0 0 0 4 0 0 0 0 0.007 185816 chr9 113276376 113276376 C T rs373483379 SVEP1 Synonymous SNV S325S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.52 185817 chr20 62192215 62192215 C T rs142409529 HELZ2 Nonsynonymous SNV G1836D 0.004 0 0 0 5 0 0 0 0 0 0 0 26.7 185818 chr7 82584657 82584657 T G PCLO Nonsynonymous SNV E1871A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 185819 chr1 20971058 20971058 C T rs368453193 PINK1 Synonymous SNV S284S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 15.54 185820 chrX 38079981 38079981 - GCAGCAGCAGCAGCAGAGGCG rs777543606 SRPX L21_L22insPPLLLLL 0.007 0.003 0 0 8 1 0 0 2 0 0 0 185821 chrX 46360769 46360769 T C ZNF674, ZNF674 Synonymous SNV E85E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.023 185822 chr10 70451567 70451567 T C rs201444703 TET1 Nonsynonymous SNV V2136A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.2 185823 chr13 111465323 111465323 G T rs328812 LINC00567 0 0 0.014 0 0 0 0 4 0 0 2 0 0.241 185824 chr1 22176575 22176575 T A rs754887749 HSPG2 Nonsynonymous SNV T2470S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 4.246 185825 chr12 110252569 110252569 C A rs56092423 TRPV4 Synonymous SNV G11G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.499 185826 chr10 103900543 103900543 - GGCAGCAACGCC rs542043253 PPRC1 R763_Q764insRQQR 0.001 0 0 1 1 0 0.003 0 0 0 0 0 185827 chr10 103908217 103908217 T C rs145965846 PPRC1 Nonsynonymous SNV S1233P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 185828 chr7 975065 975065 C T rs372856564 ADAP1 Synonymous SNV Q64Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 185829 chrX 71839145 71839145 C T PHKA1 Nonsynonymous SNV M657I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 185830 chrX 76939445 76939445 T C rs371580333 ATRX Nonsynonymous SNV I397V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.016 185831 chr7 97822858 97822858 G A rs145912351 LMTK2 Synonymous SNV P1027P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 185832 chr7 97841660 97841660 G A rs574443203 BHLHA15 Synonymous SNV P13P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.488 185833 chr7 98645331 98645331 T C rs141532197 SMURF1 Synonymous SNV E376E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.87 185834 chr21 34713317 34713317 T C rs9981753 IFNAR1 Synonymous SNV D71D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 0.063 185835 chr13 31480910 31480910 C T rs759261637 MEDAG Synonymous SNV R86R 0 0 0.007 0 0 0 0 2 0 0 0 0 17.58 185836 chr10 79593736 79593736 G A DLG5 Synonymous SNV L562L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.54 185837 chr1 27210667 27210667 C T rs146491234 GPN2 Nonsynonymous SNV D282N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 185838 chr12 119591449 119591449 C T rs185307849 SRRM4 Synonymous SNV P462P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 185839 chr12 119957975 119957975 A C rs116153736 CCDC60 Nonsynonymous SNV M340L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 185840 chr9 130119541 130119541 A C GARNL3 Nonsynonymous SNV D660A 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 185841 chr10 102748380 102748380 A C TWNK Nonsynonymous SNV E138A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.221 185842 chr21 39755367 39755367 G A rs542428261 ERG Synonymous SNV L374L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.195 185843 chr21 40569102 40569102 G A rs61742658 BRWD1 Nonsynonymous SNV L1965F 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 0.021 185844 chr12 121432125 121432125 C G rs193922606 HNF1A Nonsynonymous SNV P291R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 5.866 185845 chr10 121182725 121182725 G A rs763065843 GRK5 Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 185846 chr13 47303075 47303075 C T rs138553983 LRCH1 Nonsynonymous SNV R620C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 185847 chr1 34238192 34238192 C T rs777145641 CSMD2 Synonymous SNV S608S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.83 185848 chr13 52516659 52516659 G A rs368545738 ATP7B Nonsynonymous SNV T885M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.6 185849 chr12 123444209 123444209 A G rs774327926 ABCB9 Nonsynonymous SNV S192P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 185850 chr10 124806739 124806739 G A rs371907721 ACADSB Synonymous SNV A203A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 185851 chr1 38188806 38188806 G T rs1055735572 EPHA10 Nonsynonymous SNV P623T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 185852 chr13 77900815 77900815 C T rs754294977 MYCBP2 Synonymous SNV P32P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 185853 chr12 124825270 124825270 T C rs532473630 NCOR2 Nonsynonymous SNV H1729R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 185854 chr10 116232874 116232874 C T ABLIM1 Synonymous SNV E37E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 185855 chr9 135487482 135487482 G A rs147506196 DDX31 Synonymous SNV H694H 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 6.688 185856 chr12 125613888 125613888 G A rs781595318 AACS Synonymous SNV A436A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 185857 chr14 100765384 100765384 C T rs45534532 SLC25A29 Nonsynonymous SNV R54K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.029 185858 chr14 101449325 101449325 T C rs764269913 SNORD114-22 0 0 0.003 0 0 0 0 1 0 0 0 0 2.493 185859 chr14 102502967 102502967 C A rs200903643 DYNC1H1 Synonymous SNV P3632P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.36 185860 chr21 47572902 47572902 C T rs201214397 FTCD Nonsynonymous SNV V96M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 185861 chr14 103342780 103342780 G C rs774090745 TRAF3 Nonsynonymous SNV R163P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 185862 chr21 47809254 47809254 C T rs117987006 PCNT Nonsynonymous SNV R1132W 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 18.29 185863 chr14 104029378 104029378 C A rs2274268 COA8 Nonsynonymous SNV P14T 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Likely benign 10.8 185864 chr5 141309253 141309253 C T rs138993288 DELE1 Synonymous SNV N173N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.01 185865 chr12 133697789 133697789 G T rs751400311 ZNF891 Nonsynonymous SNV S239Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 185866 chr22 18300710 18300710 C T rs370318089 MICAL3 Nonsynonymous SNV G1573R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.051 185867 chr12 14772200 14772200 A G rs759602995 GUCY2C Synonymous SNV Y940Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 185868 chr1 49711452 49711452 T C AGBL4 Nonsynonymous SNV R135G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.8 185869 chr22 19808245 19808245 A G GNB1L Nonsynonymous SNV S44P 0.001 0 0 0 1 0 0 0 0 0 0 0 26 185870 chr12 16064318 16064318 A G rs572064049 DERA Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.623 185871 chr9 139746896 139746896 G A rs375692420 MAMDC4 Nonsynonymous SNV A10T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.412 185872 chr1 51756240 51756240 C T TTC39A Nonsynonymous SNV D19N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 185873 chr1 52227614 52227614 A G rs774383522 OSBPL9 Nonsynonymous SNV H72R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.096 185874 chr8 144660424 144660424 T G NAPRT Nonsynonymous SNV Q22P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 185875 chr12 21608993 21608993 T C rs201039677 PYROXD1 Synonymous SNV D167D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.318 185876 chr12 21689946 21689946 A G rs117474773 GYS2 Nonsynonymous SNV F685S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 185877 chr7 105624695 105624695 C A rs374784309 CDHR3 Nonsynonymous SNV A70D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 185878 chr22 21990857 21990857 T C rs766094134 CCDC116 Nonsynonymous SNV V447A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 185879 chr12 2622125 2622125 C T CACNA1C Synonymous SNV G455G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 185880 chr10 134916329 134916329 C T rs371722749 ADGRA1 Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.371 185881 chr14 21945708 21945708 C T rs139989642 TOX4 Synonymous SNV F20F 0 0 0.007 0 0 0 0 2 0 0 0 0 13.65 185882 chr1 57415353 57415353 T G C8B Nonsynonymous SNV K247Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.071 185883 chr9 140605429 140605429 C T rs200636818 EHMT1 Nonsynonymous SNV A11V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.2 185884 chr22 24628930 24628930 G A GGT5 Nonsynonymous SNV P77L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 185885 chr9 15479635 15479635 T C rs61762994 PSIP1 Synonymous SNV T169T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.195 185886 chr8 145135475 145135475 C T EXOSC4 Nonsynonymous SNV R237C 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 26.5 185887 chr1 63005327 63005327 G A DOCK7 Synonymous SNV D1032D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 185888 chr12 40643725 40643725 G T rs41286466 LRRK2 Synonymous SNV A312A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 7.648 185889 chr14 23572990 23572990 G A rs780246204 LMLN2 Nonsynonymous SNV P166L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 185890 chr5 156890285 156890285 T A NIPAL4 Nonsynonymous SNV V136D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 29.1 185891 chr9 2033063 2033063 A G rs759299457 SMARCA2 Nonsynonymous SNV M113V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 185892 chr5 159776765 159776765 G A rs372169471 C1QTNF2 Nonsynonymous SNV R90W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 185893 chr9 215186 215186 G A rs199908377 DOCK8-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 16.48 185894 chr14 24629557 24629557 G T rs76273859 RNF31 Nonsynonymous SNV V885L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 10.32 185895 chr1 70832188 70832188 A G rs779246193 HHLA3 Nonsynonymous SNV K107E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.482 185896 chr9 2718142 2718142 C T KCNV2 Stop gain Q135X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 185897 chr7 129915025 129915025 G C rs905305007 CPA2 Nonsynonymous SNV D175H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.7 185898 chr14 24780016 24780016 G A rs150416614 LTB4R2 Nonsynonymous SNV R49Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 185899 chr14 24807132 24807132 T A rs7153640 RIPK3 Nonsynonymous SNV E260V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 185900 chr8 146033084 146033084 C - rs754465207 ZNF517 Stop gain Y254* 0 0.003 0 0 0 1 0 0 0 0 0 0 185901 chr14 24877699 24877699 A G rs74036628 NYNRIN Nonsynonymous SNV S275G 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.011 185902 chr5 167689261 167689261 G A TENM2 Nonsynonymous SNV E2352K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 185903 chr8 1649551 1649551 C G rs35716530 DLGAP2 Synonymous SNV P1049P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.96 185904 chr11 117060055 117060055 A G rs756702278 SIDT2 Nonsynonymous SNV I453V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 185905 chr1 78098033 78098033 T C rs769879818 ZZZ3 Nonsynonymous SNV N336S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 185906 chr11 117789373 117789373 G A rs533182325 TMPRSS13 Nonsynonymous SNV R68W 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 185907 chr11 117870137 117870137 G A rs187556084 IL10RA Synonymous SNV L506L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 1.029 185908 chr5 170215641 170215641 G A rs144477322 GABRP Nonsynonymous SNV A8T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.672 185909 chr12 50586316 50586316 T C rs778146543 LIMA1 Synonymous SNV Q51Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.535 185910 chr14 38679764 38679787 GCTCTGAGCCCGGGCCACGCAGGG - rs571084167 SSTR1 T390T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 185911 chr22 33402394 33402394 G A rs376715828 SYN3 Nonsynonymous SNV T85M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 185912 chr12 51130869 51130869 G A rs141436517 DIP2B Synonymous SNV P1384P 0.005 0.003 0.014 0 6 1 0 4 0 0 0 0 10.73 185913 chr14 45432027 45432027 G A TOGARAM1 Nonsynonymous SNV A135T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 185914 chr9 4118120 4118120 G A rs778144860 GLIS3 Nonsynonymous SNV P298L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.1 185915 chr22 37266504 37266504 G A rs199642717 NCF4 Synonymous SNV R130R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.76 185916 chr10 68688158 68688158 T C rs201365004 LRRTM3 Nonsynonymous SNV L495P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 21.7 185917 chr22 38875688 38875688 - T KDELR3 Frameshift insertion E96Gfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 185918 chr9 74667350 74667350 A G rs1045537471 C9orf57 Synonymous SNV G66G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 185919 chr14 58941418 58941418 C T rs752882356 KIAA0586 Nonsynonymous SNV P770S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 185920 chr1 100575941 100575941 C G rs77741912 SASS6 Nonsynonymous SNV E89D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 22.6 185921 chr9 79306988 79306988 A T rs866701029 PRUNE2 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 21.4 185922 chr11 124857152 124857152 C T rs537512631 CCDC15 Synonymous SNV L344L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.427 185923 chr12 53554616 53554617 CA - CSAD V66Gfs*103 0.001 0 0 0 1 0 0 0 0 0 0 0 185924 chr8 37720630 37720630 T C RAB11FIP1 Nonsynonymous SNV K578R 0 0.003 0 0 0 1 0 0 0 0 0 0 26 185925 chr10 5777426 5777426 C T rs1014850539 TASOR2 Nonsynonymous SNV P455L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 185926 chr10 73767963 73767963 C T CHST3 Nonsynonymous SNV P392S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 185927 chr1 109813177 109813177 C T rs372369229 CELSR2 Nonsynonymous SNV R2480C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 185928 chr8 41550261 41550261 G A rs148275567 ANK1 Nonsynonymous SNV R1255C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 185929 chr9 94495590 94495590 G A rs368471121 ROR2 Synonymous SNV L251L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.905 185930 chr12 54920344 54920344 C T rs142277861 NCKAP1L Nonsynonymous SNV T680M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 185931 chr7 157926712 157926712 C T rs141258253 PTPRN2 Nonsynonymous SNV D367N 0.005 0.003 0 0 6 1 0 0 0 0 0 0 21.7 185932 chr1 111862943 111862943 T G CHIA Nonsynonymous SNV F268C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 185933 chr12 56482408 56482408 T G ERBB3 Nonsynonymous SNV M319R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.025 185934 chr10 85961593 85961593 C T rs147420731 CDHR1 Nonsynonymous SNV H186Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 185935 chr12 56631468 56631468 A G rs764347098 SLC39A5 Nonsynonymous SNV I526V 0.001 0 0 0 1 0 0 0 0 0 0 0 19 185936 chr14 74086162 74086162 T C ACOT6 Synonymous SNV T81T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 185937 chr12 57112396 57112464 GGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA - NACA W961_K983del 0.001 0 0 0 1 0 0 0 0 0 0 0 185938 chrX 105891583 105891583 G A RADX Nonsynonymous SNV G552R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.47 185939 chr7 21630855 21630855 C T rs764257309 DNAH11 Nonsynonymous SNV T776M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 185940 chr12 57858553 57858553 G A rs117426148 GLI1 Synonymous SNV T56T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14 185941 chr11 14989350 14989350 C T rs782028430 CALCA Nonsynonymous SNV R93Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 185942 chr12 57961371 57961371 G A KIF5A Synonymous SNV L139L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 185943 chr12 59267865 59267865 C T rs142986338 LRIG3 Synonymous SNV A969A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 185944 chr11 17518308 17518308 T G USH1C Nonsynonymous SNV E529A 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 185945 chr12 65456342 65456342 T C rs147351602 WIF1 Nonsynonymous SNV T249A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.71 185946 chrX 129149981 129149981 G C BCORL1 Nonsynonymous SNV G1078A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 185947 chr8 91657930 91657930 G C rs536626152 TMEM64 Synonymous SNV A68A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.032 185948 chr10 98742194 98742194 G A rs763951095 LCOR Synonymous SNV T659T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.276 185949 chr11 18505613 18505613 C T rs376351223 TSG101 Nonsynonymous SNV S216N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 185950 chrX 14027177 14027177 T A rs3747421 GEMIN8 Nonsynonymous SNV E195V 0.005 0.005 0 0 6 2 0 0 0 1 0 0 27.9 185951 chr11 19251430 19251430 C T rs140189421 E2F8 Synonymous SNV P488P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.18 185952 chrX 140714615 140714615 C T rs150358500 LOC645188 Nonsynonymous SNV R119C 0.007 0 0 0 8 0 0 0 2 0 0 0 6.693 185953 chr1 152080974 152080974 G T rs751340114 TCHH Nonsynonymous SNV S1573R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.84 185954 chr9 100128003 100128003 C G rs148165882 CCDC180 Nonsynonymous SNV N1387K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 4.949 185955 chr14 95572111 95572111 A C rs12018992 DICER1 Synonymous SNV L999L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.071 185956 chr14 95999998 95999998 G C rs749742 SNHG10 0 0 0.014 0 0 0 0 4 0 0 0 0 2.902 185957 chrX 152101429 152101429 G C rs373466621 ZNF185 Nonsynonymous SNV Q123H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.542 185958 chr9 102626021 102626021 G C rs201429822 NR4A3 Nonsynonymous SNV G585R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 185959 chrX 65393517 65393517 A G HEPH Nonsynonymous SNV I170V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.881 185960 chr15 25479240 25479240 C G rs147379493 SNHG14 0 0 0.017 0 0 0 0 5 0 0 0 0 2.674 185961 chrX 23018885 23018885 A G rs767044384 DDX53 Nonsynonymous SNV I237M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.279 185962 chr12 9312619 9312619 A G PZP Nonsynonymous SNV Y1018H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 185963 chr9 115961153 115961153 T A rs375722025 FKBP15 Synonymous SNV G233G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.29 185964 chr11 34163352 34163352 C T rs377407633 NAT10 Synonymous SNV L861L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.999 185965 chr9 116131946 116131946 T C rs140897615 BSPRY Synonymous SNV L250L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.109 185966 chr11 1016835 1016835 A G rs762086454 MUC6 Nonsynonymous SNV F1989S 0.004 0.005 0.003 4 5 2 0.01 1 0 0 0 0 20.9 185967 chr15 38776787 38776787 A G FAM98B Nonsynonymous SNV Y410C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.61 185968 chr5 98129104 98129104 C T RGMB Nonsynonymous SNV R321C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.1 185969 chr1 158436255 158436255 C T rs573938963 OR10K1 Stop gain R302X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 185970 chr7 50459497 50459497 C A IKZF1 Synonymous SNV L77L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.13 185971 chr11 108043304 108043304 C T rs200624398 NPAT Nonsynonymous SNV E803K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 185972 chr13 103328702 103328702 T C TPP2 Synonymous SNV L1199L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.527 185973 chr1 159557952 159557952 C A APCS Synonymous SNV I42I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.272 185974 chr7 5415814 5415814 C T rs762991082 TNRC18 Nonsynonymous SNV A884T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 185975 chr1 160168750 160168750 C T rs140980273 CASQ1 Synonymous SNV F297F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.23 185976 chr7 55990931 55990931 A T rs1023676133 ZNF713 Nonsynonymous SNV N42I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.66 185977 chr15 42984001 42984001 A G rs778317338 STARD9 Nonsynonymous SNV M3409V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 185978 chr15 43577112 43577112 T A TGM7 Nonsynonymous SNV N302Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 185979 chrX 77913772 77913772 T C rs768716870 RTL3 Nonsynonymous SNV Y49C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 185980 chr7 6075876 6075876 A G ANKRD61 Synonymous SNV K372K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.081 185981 chrX 133927844 133927844 C T FAM122B, FAM122B Nonsynonymous SNV V60I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 185982 chrX 133986924 133986924 G A FAM122C Nonsynonymous SNV C147Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 185983 chrX 96139681 96139681 T C RPA4 Synonymous SNV Y124Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 185984 chrX 99942163 99942163 A G SYTL4 Nonsynonymous SNV F362S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 185985 chrX 135570384 135570384 C T rs773179746 BRS3 Synonymous SNV S37S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.981 185986 chrX 139038448 139038448 G A rs755420675 CXorf66 Synonymous SNV F231F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.931 185987 chr1 171504608 171504608 G A rs755208085 PRRC2C Nonsynonymous SNV E637K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 185988 chr9 12775861 12775861 - GGCGGCGGCGGC LURAP1L G55_C56insGGGG 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 185989 chr7 70255210 70255210 C G rs543645962 AUTS2 Nonsynonymous SNV S979W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 185990 chr1 1168240 1168240 G A B3GALT6 Synonymous SNV P194P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.019 185991 chr11 1055273 1055273 C T rs567337884 LINC02688 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.874 185992 chr1 176863922 176863922 T C ASTN1 Nonsynonymous SNV K906E 0 0.003 0 0 0 1 0 0 0 0 0 0 18.03 185993 chr7 7712945 7712953 AGCAGCAGC - UMAD1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 185994 chr7 8153619 8153619 G A rs143701895 ICA1 Synonymous SNV L387L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 185995 chr7 82544538 82544538 A C rs752837053 PCLO Nonsynonymous SNV F4255C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 185996 chr1 180144480 180144480 G A rs377697828 QSOX1 Nonsynonymous SNV G131S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 185997 chr6 13644895 13644895 G A rs150739918 RANBP9 Nonsynonymous SNV H332Y 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.5 185998 chr11 4928892 4928892 T C rs371441139 OR51A7 Nonsynonymous SNV F98S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.9 185999 chr13 32332528 32332528 C T rs200886671 RXFP2 Synonymous SNV D76D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 186000 chr10 104465136 104465136 T C rs139645455 ARL3 Synonymous SNV A38A 0.003 0.01 0.003 0 4 4 0 1 0 0 0 0 10.94 186001 chr13 39263144 39263144 C T FREM2 Nonsynonymous SNV P555S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 186002 chr10 106160470 106160470 G A CFAP58 Synonymous SNV Q616Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 186003 chr10 106917004 106917004 G A SORCS3 Nonsynonymous SNV D531N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 186004 chr1 197073893 197073893 T C rs141695023 ASPM Synonymous SNV K1496K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.27 186005 chr11 5424087 5424087 A T rs201058453 OR51J1 Synonymous SNV I87I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 186006 chr15 72193681 72193681 C T MYO9A Nonsynonymous SNV V1001I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 186007 chr7 98453734 98453734 G C TMEM130 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.934 186008 chr10 115383335 115383335 A G NRAP Nonsynonymous SNV S769P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 186009 chr9 136573437 136573437 C T rs35699831 SARDH Nonsynonymous SNV R481H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 186010 chr1 11580824 11580824 C A rs750426332 DISP3 Synonymous SNV R761R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 186011 chr15 73615695 73615695 C T rs373411041 HCN4 Synonymous SNV A913A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.84 186012 chr9 136677239 136677239 G A rs149896609 VAV2 Synonymous SNV P183P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 186013 chr6 152631649 152631649 A G rs138509817 SYNE1 Nonsynonymous SNV M5563T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 186014 chr6 153304028 153304028 C A rs923182144 FBXO5 Nonsynonymous SNV A23S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.875 186015 chr13 50678973 50678973 G A DLEU1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.343 186016 chr9 138714443 138714443 G A rs746906518 CAMSAP1 Synonymous SNV F688F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.512 186017 chr6 15468876 15468876 C T rs7768621 JARID2 Synonymous SNV T27T 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 Benign 14.02 186018 chr13 52598670 52598670 A G rs141470932 ALG11 Synonymous SNV L268L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.884 186019 chr1 11907422 11907422 C T rs767807184 NPPA Synonymous SNV P66P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.061 186020 chr13 61059954 61059954 G C rs377484286 TDRD3 Nonsynonymous SNV V197L 0.003 0 0 0 3 0 0 0 1 0 0 0 20.3 186021 chr10 12133603 12133603 T C rs147571909 DHTKD1 Nonsynonymous SNV V360A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 186022 chr8 107722887 107722887 A G rs28921427 OXR1 Synonymous SNV L547L 0.001 0 0.003 3 1 0 0.008 1 0 0 0 1 3.368 186023 chr11 12225869 12225869 G A rs140406273 MICAL2 Nonsynonymous SNV V113I 0.008 0.005 0.007 2 9 2 0.005 2 0 0 0 0 24 186024 chr11 55735176 55735176 G A rs142455941 OR10AG1 Nonsynonymous SNV P255L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 186025 chr1 204966402 204966402 A G rs7545613 NFASC Nonsynonymous SNV I963V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.057 186026 chr15 81294985 81294985 T A TLNRD1 Nonsynonymous SNV C125S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.058 186027 chr1 15769996 15769996 T G rs747096972 CTRC Nonsynonymous SNV S147A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 186028 chr1 205312665 205312665 T C rs781236202 KLHDC8A Nonsynonymous SNV Y23C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 186029 chr10 123970097 123970097 G A rs116183037 TACC2 Nonsynonymous SNV E131K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 186030 chr15 83395473 83395473 C A rs72753933 ACTG1P17 0 0 0.007 0 0 0 0 2 0 0 0 0 9.468 186031 chr1 16269686 16269686 G A rs201741952 ZBTB17 Synonymous SNV F485F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.778 186032 chr11 56086683 56086683 C T rs141093095 OR8K3 Stop gain R301X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 186033 chr1 16767284 16767284 C G NECAP2 Nonsynonymous SNV L10V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 186034 chr9 140069698 140069698 C T rs200409843 ANAPC2 Synonymous SNV E749E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.06 186035 chr9 140130594 140130594 C A rs757402919 SLC34A3 Nonsynonymous SNV A509E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 186036 chr14 101348042 101348042 C T rs564350624 RTL1 Synonymous SNV T1028T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 186037 chr14 101351019 101351019 G T rs558479909 RTL1 Nonsynonymous SNV T36K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.046 186038 chr15 89386797 89386797 G A ACAN Synonymous SNV L323L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.858 186039 chr14 104422065 104422065 G A TDRD9 Nonsynonymous SNV E94K 0.001 0 0 0 1 0 0 0 0 0 0 0 21 186040 chr1 220180677 220180677 G C rs750022361 EPRS1 Nonsynonymous SNV P537A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.69 186041 chr10 134726216 134726216 G A rs569806783 CFAP46 Synonymous SNV N814N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.599 186042 chr1 220232324 220232324 G A rs146477542 BPNT1 Synonymous SNV T208T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.72 186043 chr8 142170813 142170813 C T rs142305056 DENND3 Nonsynonymous SNV R427W 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 186044 chr1 20680381 20680381 G A rs532241975 VWA5B1 Synonymous SNV P1091P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.762 186045 chr9 21334172 21334172 C G rs144648738 KLHL9 Synonymous SNV R229R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.059 186046 chr8 143694748 143694748 G A rs147582002 ARC Synonymous SNV G295G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.528 186047 chr11 57156590 57156590 G C rs144421947 PRG2 Nonsynonymous SNV L87V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.29 186048 chr11 57480232 57480232 G C rs111605325 TMX2 Nonsynonymous SNV G48R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 186049 chr14 20585671 20585671 A C OR4K17 Nonsynonymous SNV N8H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 186050 chr11 57995450 57995455 TGTTCC - rs569971760 OR10Q1 R298_N299del 0.002 0 0 0 2 0 0 0 0 0 0 0 186051 chr16 1035220 1035220 A G SOX8 Nonsynonymous SNV Y392C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 186052 chr9 35910580 35910580 C G rs141970691 SPAAR Synonymous SNV G40G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.1 186053 chr16 108679 108679 C T rs373712497 RHBDF1 Nonsynonymous SNV R743Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 186054 chr14 20898271 20898271 C G rs918409262 KLHL33 Synonymous SNV L188L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.066 186055 chr11 16822561 16822561 T G rs149301272 PLEKHA7 Nonsynonymous SNV Q790P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.79 186056 chr1 26075787 26075787 C T rs143976343 MAN1C1 Synonymous SNV I265I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 186057 chr1 26161769 26161778 TTTCACTGAT - rs564635111 AUNIP E260Dfs*47 0.001 0 0 0 1 0 0 0 0 0 0 0 186058 chr1 26393851 26393851 C G rs61760891 TRIM63 Synonymous SNV R45R 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign 11.59 186059 chr1 229772733 229772733 A T rs777345928 URB2 Synonymous SNV I791I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 186060 chr1 26883185 26883185 C T rs756071873 RPS6KA1 Synonymous SNV V328V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 186061 chr16 14307425 14307425 G A rs773016339 MRTFB Synonymous SNV K89K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 186062 chr1 27216372 27216372 C G rs781779972 GPN2 Synonymous SNV A72A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.97 186063 chr1 27269429 27269429 G A rs148845287 NUDC Nonsynonymous SNV R205Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 186064 chr1 231298971 231298971 G A TRIM67 Nonsynonymous SNV G86S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 186065 chr10 28897258 28897258 C A WAC Nonsynonymous SNV P252T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.3 186066 chr11 19173709 19173709 G A rs771440649 ZDHHC13 Nonsynonymous SNV E67K 0.002 0 0 0 2 0 0 0 0 0 0 0 33 186067 chr6 35466122 35466122 C A TULP1 Synonymous SNV G484G 0 0.003 0 4 0 1 0.01 0 0 0 0 0 18.66 186068 chr16 1570262 1570262 A G rs79494390 IFT140 Nonsynonymous SNV I1248T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 26 186069 chr1 234744329 234744329 G T rs375536261 IRF2BP2 Synonymous SNV T304T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.899 186070 chr16 16235079 16235079 G A rs566054736 ABCC1 Nonsynonymous SNV D1513N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.143 186071 chr16 1660093 1660093 T A LOC105371046 0 0 0.003 0 0 0 0 1 0 0 0 0 2.816 186072 chr16 1821406 1821406 T G rs77638350 NME3 Nonsynonymous SNV T18P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 186073 chr1 33134629 33134629 G A rs752080971 RBBP4 Synonymous SNV A218A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.685 186074 chr16 19083283 19083283 G C rs780369090 COQ7 Nonsynonymous SNV S22T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 186075 chr10 465030 465030 G A rs142664209 DIP2C Synonymous SNV N238N 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 6.244 186076 chr14 31578658 31578658 A C rs760778778 HECTD1 Nonsynonymous SNV M2142R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 186077 chr1 36563615 36563615 A G rs542583505 COL8A2 Nonsynonymous SNV L491P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 186078 chr1 242121231 242121231 G A rs1038285969 BECN2 Nonsynonymous SNV A55T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.457 186079 chr16 20810232 20810232 G A ERI2 Nonsynonymous SNV S297L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.742 186080 chr11 6261783 6261783 G A CNGA4 Synonymous SNV L253L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.523 186081 chr10 50121674 50121674 C T rs540331593 LRRC18 Nonsynonymous SNV R176Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 186082 chr11 4791145 4791145 C A OR51F1 Nonsynonymous SNV M8I 0.001 0 0 0 1 0 0 0 0 0 0 0 13 186083 chr11 3756497 3756497 T C rs756679934 NUP98 Nonsynonymous SNV N442S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.81 186084 chr11 64023929 64023929 C T PLCB3 Synonymous SNV N193N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 186085 chr16 2819161 2819166 TCTTCT - rs759183202 SRRM2 S2647_S2648del 0 0 0.003 0 0 0 0 1 0 0 0 0 186086 chr6 46630155 46630155 G A rs201879117 SLC25A27 Synonymous SNV Q142Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.634 186087 chr1 45671987 45671987 C T rs770562241 ZSWIM5 Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.63 186088 chr14 54417123 54417123 G A rs538802825 BMP4 Nonsynonymous SNV T285I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 186089 chr11 46744784 46744784 G A rs139148365 F2 Nonsynonymous SNV R124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 186090 chr14 55852656 55852656 G A ATG14 Synonymous SNV L190L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.131 186091 chr14 56106644 56106644 G A rs374767091 KTN1 Nonsynonymous SNV D613N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 186092 chr16 31092662 31092662 A G rs895675489 ZNF646 Nonsynonymous SNV K1673E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.748 186093 chr16 31235800 31235800 C T rs772123304 TRIM72 Synonymous SNV R386R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.41 186094 chr16 3168953 3168953 G A ZNF205 Nonsynonymous SNV G178S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 186095 chr16 321061 321061 C G rs73486213 RGS11 Nonsynonymous SNV G117R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 186096 chr16 336909 336909 G A rs45512400 PDIA2 Synonymous SNV T499T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.948 186097 chr16 34404310 34404310 G T rs117927739 UBE2MP1 0 0 0.024 0 0 0 0 7 0 0 0 0 4.648 186098 chr8 37914649 37914649 C A rs142573293 EIF4EBP1 Nonsynonymous SNV P66T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 186099 chr14 64519876 64519876 T A SYNE2 Nonsynonymous SNV L3082H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 186100 chr16 420079 420079 C T rs80158709 MRPL28 Nonsynonymous SNV G47E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 186101 chr2 11756760 11756760 C A rs761029175 GREB1 Nonsynonymous SNV S1109Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 186102 chr14 65289693 65289693 A G rs773736775 SPTB Synonymous SNV F40F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 186103 chr8 49832816 49832816 G A SNAI2 Synonymous SNV P88P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.973 186104 chrX 150840707 150840707 G A rs201718557 PASD1 Nonsynonymous SNV R497Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 186105 chrX 151093082 151093082 G A rs142110631 MAGEA4 Nonsynonymous SNV G316R 0.002 0.003 0 0 2 1 0 0 1 0 0 0 16.72 186106 chr10 72326470 72326470 C T rs61744349 PALD1 Nonsynonymous SNV A851V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.17 186107 chr14 73029562 73029562 C T rs540235667 RGS6 Nonsynonymous SNV P600S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.03 186108 chr16 50349036 50349036 T C rs374466879 ADCY7 Nonsynonymous SNV L1028P 0 0 0.003 0 0 0 0 1 0 0 0 0 31 186109 chr8 63978528 63978528 A - rs397515378 TTPA W163Gfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 186110 chrX 153247926 153247926 G A rs36085378 TMEM187 Nonsynonymous SNV R138Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.209 186111 chr11 694948 694977 CTGCCGCGGCCGCGGCCGCCGCCGCCACAG - rs761172741 DEAF1 A24_A33del 0.001 0 0 0 1 0 0 0 0 0 0 0 186112 chr1 67816617 67816617 C G IL12RB2 Nonsynonymous SNV T368R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.24 186113 chr14 77786926 77786926 C T rs778579619 POMT2 Synonymous SNV V33V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 186114 chr2 28814008 28814008 G A rs73922186 PLB1 Synonymous SNV P688P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.74 186115 chr2 28824802 28824802 C T rs80128719 PLB1 Nonsynonymous SNV R871C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.4 186116 chrX 35820536 35820536 G A rs41304733 MAGEB16 Nonsynonymous SNV V75I 0.008 0.005 0.007 0 9 2 0 2 2 0 0 0 Benign 0.001 186117 chr16 613651 613651 C T rs9926876 PRR35 Synonymous SNV A119A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.684 186118 chr10 81053225 81053225 G A rs1048887823 ZMIZ1 Nonsynonymous SNV A349T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.35 186119 chr1 85647952 85647952 T - rs770266080 SYDE2 Stop gain V792* 0.002 0 0 0 2 0 0 0 0 0 0 0 186120 chr2 29295284 29295284 A T rs140776870 PCARE Nonsynonymous SNV V615D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 26.4 186121 chrX 46696565 46696565 G A rs782402689 RP2 Synonymous SNV K10K 0.002 0.003 0 0 2 1 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 13.07 186122 chr2 29445397 29445397 G T ALK Nonsynonymous SNV Q78K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 186123 chr10 85968037 85968037 C T rs146588811 CDHR1 Synonymous SNV S357S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.34 186124 chr11 76371397 76371397 G A rs201431152 LRRC32 Nonsynonymous SNV R304W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 186125 chrX 49143144 49143144 G A PPP1R3F Synonymous SNV E318E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 186126 chr1 87570209 87570209 A G rs139920484 HS2ST1 Nonsynonymous SNV I301V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.422 186127 chr16 67986273 67986273 G A rs759888969 SLC12A4 Nonsynonymous SNV S246L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 186128 chr16 67997386 67997386 C T SLC12A4 Synonymous SNV R64R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 186129 chrX 63410794 63410794 G A rs200450146 AMER1 Synonymous SNV D791D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.13 186130 chr10 91007315 91007315 G C LIPA Nonsynonymous SNV P31A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 186131 chrX 68725421 68725421 - GCCGCC FAM155B P104_G105insPP 0 0.003 0 0 0 1 0 0 0 0 0 0 186132 chr10 91203557 91203557 G A rs375833021 SLC16A12 Nonsynonymous SNV T87M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 186133 chrX 70360647 70360647 - CAGCAG rs786200970 MED12 Q2076_Y2077insQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 186134 chr16 71465112 71465112 G A TLE7 Synonymous SNV I353I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.919 186135 chr1 100573501 100573501 A G rs202147382 SASS6 Synonymous SNV D140D 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.637 186136 chr10 98136449 98136449 G A rs753570041 TLL2 Synonymous SNV L816L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.59 186137 chr16 73127515 73127515 G A rs79936602 HCCAT5 0 0 0.024 0 0 0 0 7 0 0 0 0 14.72 186138 chr16 73127556 73127556 G A rs73591151 HCCAT5 0 0 0.024 0 0 0 0 7 0 0 0 0 18.25 186139 chr10 102762428 102762428 C G rs767715226 LZTS2 Nonsynonymous SNV P45A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 186140 chr15 101718131 101718131 T G rs145912754 CHSY1 Nonsynonymous SNV E624A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 186141 chr1 109807602 109807602 A G CELSR2 Synonymous SNV P1859P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.312 186142 chr9 117110089 117110089 G A rs748140442 AKNA Nonsynonymous SNV R986C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 186143 chr15 28202756 28202756 G A rs150711896 OCA2 Nonsynonymous SNV R564W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.8 186144 chr16 839304 839304 G A rs184555764 CHTF18 Synonymous SNV P127P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.179 186145 chr16 839666 839666 T G rs114985156 CHTF18 Nonsynonymous SNV V186G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 186146 chr2 67631578 67631578 A G rs61737411 ETAA1 Synonymous SNV E588E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.548 186147 chr9 117228630 117228630 T C WHRN Nonsynonymous SNV I294V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.2 186148 chr2 67632397 67632397 A G rs17033537 ETAA1 Synonymous SNV P861P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.415 186149 chr16 84164813 84164813 G C HSDL1 Nonsynonymous SNV I38M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 186150 chr2 68765298 68765298 C T rs185424489 APLF Stop gain Q367X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 186151 chr12 1005644 1005644 G A rs61736907 WNK1 Synonymous SNV E1749E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.742 186152 chr15 33381097 33381097 G A rs745819682 FMN1 Nonsynonymous SNV A649V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 186153 chr16 84691435 84691435 C T rs200720185 KLHL36 Nonsynonymous SNV A341V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 186154 chr16 863386 863386 C T rs201246779 PRR25 Nonsynonymous SNV P245L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 186155 chr16 87678630 87678630 C T rs140186033 JPH3 Synonymous SNV I383I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 186156 chr7 106876898 106876898 T G rs372319280 COG5 Synonymous SNV A706A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 6.97 186157 chr2 75879756 75879756 A G rs202085777 MRPL19 Nonsynonymous SNV I150V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.916 186158 chr16 88498105 88498105 G A rs371897217 ZNF469 Synonymous SNV P1409P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.265 186159 chr15 41060149 41060149 G C DNAJC17 Nonsynonymous SNV P302A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.005 186160 chr15 41062837 41062837 C T rs557357828 C15orf62 Synonymous SNV N48N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 9.65 186161 chr12 107486649 107486649 T C rs200691319 CRY1 Nonsynonymous SNV I31V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.381 186162 chr2 84928399 84928399 C A rs200844717 DNAH6 Nonsynonymous SNV S2666Y 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 31 186163 chr16 88695166 88695166 G T rs368906520 ZC3H18 Nonsynonymous SNV A824S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 186164 chr15 41804039 41804039 G C LTK Synonymous SNV G211G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.95 186165 chr15 41804042 41804042 A C rs764314009 LTK Synonymous SNV G210G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.37 186166 chr10 11912000 11912000 C T rs541809225 PROSER2 Synonymous SNV D301D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.49 186167 chr9 130164927 130164927 G C rs200192886 SLC2A8 Synonymous SNV P43P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.72 186168 chr16 8890030 8890030 G A rs142904962 TMEM186 Nonsynonymous SNV R141W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 186169 chr1 150923889 150923889 C T rs764812866 SETDB1 Synonymous SNV T754T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 186170 chr10 122649483 122649483 A G rs61761620 WDR11 Nonsynonymous SNV M769V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 186171 chr10 123844023 123844023 C G rs377480879 TACC2 Nonsynonymous SNV L670V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.093 186172 chr15 42979609 42979609 G C STARD9 Nonsynonymous SNV V1945L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.208 186173 chr9 131196463 131196463 G A rs114084202 CERCAM Nonsynonymous SNV R351Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 186174 chr16 929606 929606 C T rs61740409 LMF1 Synonymous SNV A178A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.78 186175 chr9 131362361 131362361 T C rs945831 SPTAN1 Synonymous SNV D1162D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.86 186176 chr9 131398633 131398633 C T rs61744155 WDR34 Synonymous SNV P210P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.62 186177 chr17 10304474 10304474 C T rs773112769 MYH8 Nonsynonymous SNV R1048Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 186178 chr12 113754775 113754775 T A rs199582389 SLC8B1 Synonymous SNV V222V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 186179 chr12 113754777 113754777 C A rs200612695 SLC8B1 Nonsynonymous SNV V222L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 186180 chr11 62550171 62550171 T C rs138568250 TAF6L Synonymous SNV H278H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.036 186181 chr9 132581156 132581156 G A rs142909469 TOR1A Nonsynonymous SNV A163V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23 186182 chr1 153346953 153346953 T - S100A12 K39Rfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 186183 chr1 153655903 153655903 C T rs41302111 NPR1 Nonsynonymous SNV R439C 0.004 0 0 0 5 0 0 0 0 0 0 0 23.2 186184 chr12 118582522 118582522 C T PEBP1 Nonsynonymous SNV L160F 0.001 0 0 0 1 0 0 0 0 0 0 0 25 186185 chr1 154409931 154409931 C T rs960281298 IL6R Nonsynonymous SNV P324S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.23 186186 chr11 63992371 63992371 G A TRPT1 Nonsynonymous SNV R77C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 186187 chr1 155698906 155698906 T A rs749717538 DAP3 Nonsynonymous SNV V192D 0.001 0 0 0 1 0 0 0 0 0 0 0 30 186188 chr17 17068694 17068694 C T rs776042008 MPRIP Synonymous SNV L1295L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.029 186189 chr11 57798686 57798686 A T rs61741314 OR6Q1 Nonsynonymous SNV I88F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.523 186190 chr11 57798801 57798801 G A rs61739978 OR6Q1 Nonsynonymous SNV R126H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 186191 chr7 138968093 138968093 A G rs139682698 UBN2 Synonymous SNV P814P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.265 186192 chr11 57798923 57798923 T A rs61748337 OR6Q1 Nonsynonymous SNV L167M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 186193 chr17 17718592 17718592 C T rs141489278 SREBF1 Nonsynonymous SNV R788Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.9 186194 chr2 113788640 113788640 G A rs34754959 IL36B Nonsynonymous SNV R36C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 186195 chr12 123061490 123061490 G A rs779089672 KNTC1 Nonsynonymous SNV D879N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 186196 chr2 119739747 119739747 A C rs554611818 MARCO Nonsynonymous SNV Q306P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.848 186197 chr17 20107739 20107739 C G rs143916580 SPECC1 Nonsynonymous SNV S45C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.8 186198 chr10 135345657 135345657 G A rs60452492 CYP2E1 Nonsynonymous SNV G173S 0.012 0.013 0.007 5 14 5 0.013 2 0 0 0 0 21.8 186199 chr1 157062487 157062487 G T rs145240495 ETV3L Nonsynonymous SNV P347H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.75 186200 chr11 65366872 65366872 C T rs377564375 MAP3K11 Synonymous SNV E733E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 186201 chr1 158656298 158656298 A G rs753495645 SPTA1 Nonsynonymous SNV F4L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.004 186202 chr15 65347541 65347541 C T rs774393555 RASL12 Nonsynonymous SNV C147Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 186203 chr1 159898603 159898603 C T IGSF9 Nonsynonymous SNV V859M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.61 186204 chr15 65490597 65490597 C - rs766745855 CILP G676Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 186205 chr12 132249037 132249037 A G SFSWAP Nonsynonymous SNV K586R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 186206 chr11 61026266 61026266 C T rs142539738 VWCE Nonsynonymous SNV G917R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.017 186207 chr17 25620996 25620996 C G rs372322397 MIR4522 0 0 0.003 0 0 0 0 1 0 0 0 0 5.221 186208 chr11 67236644 67236644 T A rs974076540 TMEM134 Nonsynonymous SNV Q7L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 186209 chr12 133291468 133291468 C T rs367908687 PGAM5 Synonymous SNV N72N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 186210 chr17 27419904 27419904 C T rs368097941 MYO18A Nonsynonymous SNV S1644N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 186211 chr1 167095564 167095564 G A rs140692288 DUSP27 Nonsynonymous SNV R399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 186212 chr11 62457861 62457861 C T rs149466797 BSCL2 Nonsynonymous SNV R456H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 186213 chr17 30179173 30179173 G A rs116808712 COPRS Synonymous SNV D168D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 186214 chr12 18719926 18719926 A G rs200838936 PIK3C2G Nonsynonymous SNV R1275G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 186215 chr12 22440170 22440170 A G rs149696941 ST8SIA1 Synonymous SNV N98N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.358 186216 chr2 165552320 165552320 G A COBLL1 Nonsynonymous SNV P528S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 186217 chr11 72415355 72415355 C T rs367817872 ARAP1 Nonsynonymous SNV A367T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 186218 chr11 65048504 65048504 C T rs200645119 POLA2 Synonymous SNV N262N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.01 186219 chr2 171376031 171376031 G A rs376775774 MYO3B Nonsynonymous SNV A1159T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.922 186220 chr2 171715386 171715386 C T rs776783455 GAD1 Nonsynonymous SNV R532W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 186221 chr7 2415056 2415056 C T rs76153980 EIF3B Nonsynonymous SNV S641L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 186222 chr17 37341068 37341068 A G rs536636143 CACNB1 Nonsynonymous SNV I233T 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 186223 chr2 179543195 179543195 C T rs376874956 TTN Nonsynonymous SNV E10042K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 186224 chr9 711464 711465 CC - KANK1 S75Ffs*92 0.003 0 0 0 3 0 0 0 0 0 0 0 186225 chr9 711467 711468 CC - KANK1 S76Yfs*91 0.003 0 0 0 3 0 0 0 0 0 0 0 186226 chr1 197621416 197621416 T C rs372816973 DENND1B Synonymous SNV S132S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.502 186227 chr15 90118885 90118885 T C TICRR Nonsynonymous SNV V23A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.898 186228 chr1 201084400 201084400 A T rs976237004 ASCL5 Nonsynonymous SNV L34Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 186229 chr1 201177091 201177091 G A rs905475490 IGFN1 Nonsynonymous SNV E1024K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.796 186230 chr11 86518972 86518972 G A rs373628516 PRSS23 Nonsynonymous SNV R96H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 186231 chr11 68204381 68204381 G C rs150088620 LRP5 Nonsynonymous SNV R761P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 186232 chr15 91438777 91438777 C T rs755451766 FES Nonsynonymous SNV R762W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 186233 chr15 91454462 91454462 C T rs200259502 MAN2A2 Nonsynonymous SNV S646L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.5 186234 chr12 50358868 50358868 G A rs747365491 AQP5 Nonsynonymous SNV V236M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.405 186235 chr15 91527293 91527293 T C rs200573147 PRC1 Synonymous SNV K74K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.023 186236 chr12 50727735 50727735 G A rs961715912 FAM186A Nonsynonymous SNV R2219W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 186237 chr11 3059357 3059357 C T CARS1 Nonsynonymous SNV V159M 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 186238 chr12 51236858 51236858 G A rs370303077 TMPRSS12 Synonymous SNV P37P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 9.517 186239 chr7 44805814 44805814 C T rs145522270 ZMIZ2 Nonsynonymous SNV T739M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24 186240 chr2 189975012 189975012 C T rs142044596 COL5A2 Synonymous SNV T87T 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign/Likely benign 15.78 186241 chr7 45148545 45148545 T G rs148174963 TBRG4 Nonsynonymous SNV N109H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.94 186242 chr17 39974643 39974643 G A rs782308119 FKBP10 Synonymous SNV K197K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.321 186243 chr2 191839598 191839598 G A rs778900428 STAT1 Synonymous SNV D732D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.69 186244 chr17 41860570 41860570 C T rs1007334367 CFAP97D1 Nonsynonymous SNV R113C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 186245 chr16 135459 135459 C T rs570538336 MPG Nonsynonymous SNV R189C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 186246 chr11 73789706 73789706 G C C2CD3 Nonsynonymous SNV L1353V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.17 186247 chr17 42992474 42992474 G A rs138320302 GFAP Synonymous SNV L127L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.753 186248 chr2 202430546 202430546 C A rs376366248 C2CD6 Nonsynonymous SNV D295Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.2 186249 chr2 203332288 203332288 A G BMPR2 Synonymous SNV E98E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.091 186250 chr11 76726103 76726103 A G rs141925215 ACER3 Nonsynonymous SNV I144V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 186251 chr12 108011118 108011118 C T rs200614667 BTBD11 Synonymous SNV A249A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 186252 chr16 2017794 2017794 G A rs537604935 RNF151 Nonsynonymous SNV R73Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 186253 chr16 20975318 20975318 T C rs150973698 DNAH3 Synonymous SNV P3250P 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 0.011 186254 chr17 4883518 4883518 G A rs116889814 CAMTA2 Nonsynonymous SNV P369S 0 0 0.007 2 0 0 0.005 2 0 0 0 0 16.15 186255 chr2 216965010 216965010 C T rs61732363 TMEM169 Synonymous SNV F213F 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 12.02 186256 chr17 5015257 5015257 C A rs113640298 LOC101928000 0 0 0.007 2 0 0 0.005 2 0 0 0 0 10.68 186257 chrX 153690629 153690629 G A rs146539077 PLXNA3 Synonymous SNV T432T 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 12.32 186258 chr17 5418368 5418368 C T rs199842944 NLRP1 Synonymous SNV P1302P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 11.26 186259 chr16 24581767 24581767 A G rs773493870 RBBP6 Synonymous SNV R1218R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.267 186260 chr10 97376245 97376245 C T rs750704586 ALDH18A1 Nonsynonymous SNV A320T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 186261 chr12 113907108 113907108 C A LHX5 Synonymous SNV S72S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 186262 chr12 57627365 57627365 G A rs201473547 SHMT2 Nonsynonymous SNV R338Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 186263 chr2 220417321 220417321 C T rs549049375 OBSL1 Nonsynonymous SNV G1749R 0 0.005 0 0 0 2 0 0 0 1 0 0 Uncertain significance 26.5 186264 chr16 28925599 28925599 G A rs750072927 RABEP2 Synonymous SNV Y284Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.327 186265 chrX 46434164 46434164 T C rs146831351 CHST7 Synonymous SNV D266D 0.002 0.005 0.007 2 2 2 0.005 2 1 1 1 1 Benign 0.313 186266 chrX 47424651 47424651 G T rs779536112 ARAF Nonsynonymous SNV R156S 0.002 0.005 0 2 2 2 0.005 0 1 1 0 1 8.481 186267 chr16 30777824 30777824 G A rs972276488 RNF40 Nonsynonymous SNV R413Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 186268 chr12 101705956 101705956 C T UTP20 Synonymous SNV T818T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.72 186269 chrX 53432767 53432767 C T SMC1A Nonsynonymous SNV C556Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 186270 chr1 228504536 228504536 C T rs565118758 OBSCN Nonsynonymous SNV A4471V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.628 186271 chr1 229593929 229593929 T C rs757542733 NUP133 Nonsynonymous SNV M987V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.044 186272 chr16 31478152 31478152 C T rs562207027 ARMC5 Nonsynonymous SNV T917M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 186273 chr17 6929932 6929932 T C rs781361037 BCL6B Nonsynonymous SNV V349A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.2 186274 chr1 233395006 233395006 T C PCNX2 Nonsynonymous SNV Q201R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 186275 chr16 3632660 3632660 A G rs199838670 SLX4 Nonsynonymous SNV S1730P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 25.4 186276 chr12 130926715 130926715 C T rs138793493 RIMBP2 Synonymous SNV S377S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 7.708 186277 chr11 102585359 102585359 C T rs148019534 MMP8 Nonsynonymous SNV S373N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.05 186278 chr17 72588438 72588438 G T rs79556281 C17orf77 Stop gain E85X 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 23.4 186279 chr16 47545666 47545666 G A rs774068671 PHKB Nonsynonymous SNV E166K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 186280 chr16 47545670 47545670 A G rs151155518 PHKB Nonsynonymous SNV Y167C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 27.2 186281 chr8 106814166 106814166 C G ZFPM2 Nonsynonymous SNV P566R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.16 186282 chr16 4787894 4787894 G A rs138905202 C16orf71 Nonsynonymous SNV D75N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.412 186283 chr12 8212512 8212512 G A rs140119047 C3AR1 Synonymous SNV Y90Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.112 186284 chr2 241697865 241697865 G A rs757726053 KIF1A Nonsynonymous SNV P823S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 22 186285 chr1 245530204 245530204 C T rs371384388 KIF26B Synonymous SNV N178N 0.003 0 0 0 4 0 0 0 0 0 0 0 12.36 186286 chr2 242066156 242066156 C T rs2005771 PASK Nonsynonymous SNV G725D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.442 186287 chr16 50733738 50733738 G A rs104895456 NOD2 Nonsynonymous SNV R111Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 186288 chr2 242206270 242206270 T C rs199642392 HDLBP Synonymous SNV A5A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.515 186289 chr2 242380748 242380748 T A rs2302015 FARP2 Synonymous SNV T396T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.4 186290 chr8 11637189 11637189 C T rs756979497 NEIL2 Nonsynonymous SNV P13L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.045 186291 chr2 242430521 242430521 G C rs145250956 FARP2 Synonymous SNV A850A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.25 186292 chr8 11637331 11637331 C T rs143923741 NEIL2 Synonymous SNV D60D 0 0.003 0 3 0 1 0.008 0 0 0 0 0 12.34 186293 chr2 242439595 242439595 G A rs33932436 STK25 Synonymous SNV D140D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.72 186294 chr16 53358098 53358098 G C rs118053466 CHD9 Nonsynonymous SNV G2662A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 186295 chr16 53859931 53859931 G A rs746892119 FTO Synonymous SNV P67P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 186296 chr11 110450164 110450164 G A rs200417489 ARHGAP20 Nonsynonymous SNV A1146V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.028 186297 chr16 57937820 57937820 C T rs72782250 CNGB1 Synonymous SNV T894T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.57 186298 chr3 9412826 9412826 G A rs148267685 THUMPD3 Nonsynonymous SNV S138N 0.003 0.008 0 0 4 3 0 0 0 0 0 0 7.805 186299 chr12 121426645 121426645 G A rs371365341 HNF1A Synonymous SNV P112P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.38 186300 chr12 121437108 121437108 C T rs193922584 HNF1A Synonymous SNV T513T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.08 186301 chr1 248084609 248084609 C T rs6692357 OR2T8 Nonsynonymous SNV A97V 0.003 0.005 0 4 4 2 0.01 0 2 1 0 2 0.005 186302 chr16 597532 597532 T A rs766433198 CAPN15 Nonsynonymous SNV F232I 0.001 0 0 0 1 0 0 0 0 0 0 0 12 186303 chr3 10219649 10219649 T C rs145038141 IRAK2 Synonymous SNV L74L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.95 186304 chr11 117309617 117309617 C T rs773004750 DSCAML1 Synonymous SNV G1409G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.07 186305 chr1 248201673 248201673 T C OR2L2 Nonsynonymous SNV L35P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 186306 chr8 131949376 131949376 C T rs761354664 ADCY8 Nonsynonymous SNV R475H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 186307 chr16 68224774 68224774 G A rs770408229 NFATC3 Synonymous SNV G734G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 186308 chr12 31136016 31136016 G A rs377608112 TSPAN11 Synonymous SNV K201K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 186309 chr17 78338329 78338329 C T rs117705614 RNF213 Synonymous SNV T3949T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 13.07 186310 chr3 15686731 15686731 A C rs80338685 BTD Nonsynonymous SNV Q436H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Pathogenic 22.9 186311 chr17 79173280 79173280 G A rs201264503 CEP131 Nonsynonymous SNV P365S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 186312 chr17 79278955 79278955 G A rs745382002 LINC00482 0 0 0.003 0 0 0 0 1 0 0 0 0 6.141 186313 chr17 7990626 7990626 A G rs117483056 ALOX12B Synonymous SNV F45F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.06 186314 chr17 80050642 80050642 C T rs369599566 FASN Synonymous SNV S275S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.28 186315 chr2 16082169 16082169 C T rs566883495 MYCN Nonsynonymous SNV P86L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.66 186316 chr13 25831943 25831943 G A rs141856051 MTMR6 Synonymous SNV S300S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.25 186317 chr8 144671390 144671390 G A rs78886866 EEF1D Nonsynonymous SNV R288W 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.4 186318 chr8 144671456 144671456 C T rs77499941 EEF1D Nonsynonymous SNV G266S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 3.92 186319 chr12 49437153 49437153 A G rs137955659 KMT2D Synonymous SNV D1842D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.248 186320 chr3 39093524 39093524 C G WDR48 Nonsynonymous SNV A3G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 186321 chr12 50570879 50570879 G A rs766724186 LIMA1 Nonsynonymous SNV R448W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 186322 chr8 144892945 144892945 C T rs767325016 SCRIB Nonsynonymous SNV D439N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 186323 chr3 40573994 40573994 C T rs144763141 ZNF621 Nonsynonymous SNV R245C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.68 186324 chr12 21008103 21008103 G A SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV G48R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 186325 chr16 84456272 84456272 G A rs767031281 ATP2C2 Nonsynonymous SNV G120E 0.001 0 0 0 1 0 0 0 0 0 0 0 30 186326 chr13 37393617 37393617 C T rs764409673 RFXAP Synonymous SNV A41A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 14.81 186327 chr18 21422367 21422367 G A rs757499667 LAMA3 Synonymous SNV V1115V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.383 186328 chr11 126131377 126131377 G A rs34495134 FAM118B Nonsynonymous SNV R346K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 186329 chr16 84906707 84906707 G A rs147512774 CRISPLD2 Nonsynonymous SNV R364K 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.759 186330 chr11 126143246 126143246 G A rs34542988 FOXRED1 Nonsynonymous SNV V145I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 186331 chr10 18828606 18828606 C T rs546669133 CACNB2 Nonsynonymous SNV R591W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 29.3 186332 chr3 44685479 44685479 A T ZNF197, ZNF660-ZNF197 Nonsynonymous SNV T740S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 186333 chr12 52790741 52790741 G A rs760376339 KRT82 Nonsynonymous SNV R332C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 186334 chr13 48542743 48542743 A G rs57270175 SUCLA2 Synonymous SNV D263D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.291 186335 chr13 48654059 48654059 C T rs146587688 MED4 Synonymous SNV L141L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 17.91 186336 chr2 32715161 32715161 C T rs1057164227 BIRC6 Nonsynonymous SNV R2717W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 186337 chr3 46485038 46485038 C T LTF Nonsynonymous SNV D473N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.29 186338 chr2 37230711 37230711 T G rs766895821 HEATR5B Nonsynonymous SNV Y1675S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 186339 chr8 146035353 146035353 A G LOC100130027 0 0 0 1 0 0 0.003 0 0 0 0 0 0.76 186340 chr3 47385339 47385339 G C KLHL18 Nonsynonymous SNV D545H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 186341 chr16 88798204 88798204 G A rs775153962 PIEZO1 Nonsynonymous SNV R1036C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 186342 chr3 47619045 47619045 G C rs145083750 CSPG5 Synonymous SNV P19P 0.003 0.01 0 0 3 4 0 0 0 0 0 0 4.457 186343 chr2 40656396 40656396 A G rs1016364954 SLC8A1 Nonsynonymous SNV I342T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 186344 chr3 48464968 48464968 G A rs9841713 PLXNB1 Synonymous SNV T351T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.72 186345 chr3 48613108 48613108 C A rs182669506 COL7A1 Nonsynonymous SNV R1977L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 13.81 186346 chr18 45120649 45120651 TTT - rs758442841 MIR4527HG 0 0 0.003 0 0 0 0 1 0 0 0 0 186347 chr3 48629562 48629562 G C rs757132559 COL7A1 Nonsynonymous SNV P405A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.312 186348 chr3 49167696 49167696 G A rs77500937 LAMB2 Nonsynonymous SNV T398I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.733 186349 chr2 45829094 45829094 T C rs146680640 SRBD1 Nonsynonymous SNV N70S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.104 186350 chr10 45799534 45799534 C T rs75847534 OR13A1 Nonsynonymous SNV G113R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.757 186351 chr10 45920506 45920506 G A rs2228065 ALOX5 Nonsynonymous SNV E254K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 186352 chr10 46121704 46121704 T C rs34082391 ZFAND4 Nonsynonymous SNV T523A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.1 186353 chr3 49690684 49690684 C T rs112787310 BSN Nonsynonymous SNV T1232I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.02 186354 chr10 46967332 46967332 C A rs147110442 LOC101927699 0.001 0 0 0 1 0 0 0 0 0 0 0 9.786 186355 chr3 49737660 49737660 C T rs34379671 RNF123 Nonsynonymous SNV R329C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 186356 chr3 49850696 49850696 G A rs35481257 UBA7 Synonymous SNV L116L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 186357 chr10 46999130 46999130 C T rs145071603 GPRIN2 Nonsynonymous SNV P84S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.266 186358 chr17 10539161 10539161 C T rs143671201 MYH3 Nonsynonymous SNV S1289N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 186359 chr3 52386615 52386615 C T rs149114984 DNAH1 Synonymous SNV H973H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 8.891 186360 chr10 47087006 47087006 G A rs371172497 NPY4R, NPY4R2 Nonsynonymous SNV V75M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 186361 chr18 57569975 57569975 C A PMAIP1 Stop gain S52X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 186362 chr3 52514897 52514897 A G NISCH Nonsynonymous SNV I511V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 186363 chr3 52521959 52521959 C T rs138392739 NISCH Synonymous SNV A817A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.5 186364 chr10 48389375 48389375 G A rs34700898 RBP3 Synonymous SNV A501A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.427 186365 chr8 26365294 26365294 C A rs148320981 PNMA2 Nonsynonymous SNV E326D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.8 186366 chr17 12921230 12921230 G A rs111252262 ELAC2 Nonsynonymous SNV A12V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 186367 chr3 58109287 58109287 G A rs143566075 FLNB Synonymous SNV T1198T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.15 186368 chr3 58116531 58116531 C T rs771435214 FLNB Nonsynonymous SNV P1429L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 186369 chr14 105518051 105518051 G A rs537968166 GPR132 Synonymous SNV F132F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 186370 chr14 105707713 105707713 C G rs201913661 BRF1 Nonsynonymous SNV E168Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 186371 chr11 63987471 63987471 G A rs148021416 FERMT3 Synonymous SNV Q396Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.303 186372 chr3 63649680 63649680 T A rs368282502 SNTN Nonsynonymous SNV L118Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 186373 chr18 74729121 74729121 G A rs150638800 MBP Synonymous SNV H81H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.752 186374 chr18 76753756 76753756 G A rs201685558 SALL3 Nonsynonymous SNV G589S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 0.002 186375 chr8 37597919 37597919 T C rs769021055 ERLIN2 Synonymous SNV G48G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.101 186376 chr2 72359460 72359460 C T rs148075682 CYP26B1 Nonsynonymous SNV V404I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 186377 chr17 18023748 18023748 C T rs199740747 MYO15A Nonsynonymous SNV A545V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 186378 chr12 68724946 68724946 G A MDM1 Nonsynonymous SNV S25F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 186379 chr2 73455934 73455934 G A rs150491069 PRADC1 Synonymous SNV L145L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 186380 chr19 1004621 1004621 G A GRIN3B Nonsynonymous SNV R374H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 186381 chr17 18874828 18874828 A G rs371955365 FAM83G Synonymous SNV D772D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 186382 chr17 19605955 19605955 G A rs774014631 SLC47A2 Nonsynonymous SNV P376L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 186383 chr12 75601178 75601178 C T rs201721348 KCNC2 Nonsynonymous SNV A196T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 186384 chr14 23345174 23345174 C T rs559532464 LRP10 Synonymous SNV D339D 0.003 0 0 0 3 0 0 0 0 0 0 0 10.89 186385 chr14 23559223 23559223 C T rs938325437 ACIN1 Nonsynonymous SNV R193K 0.003 0 0 0 3 0 0 0 0 0 0 0 13.92 186386 chr12 55863065 55863065 A - rs566762921 OR6C70 F286Lfs*5 0.003 0 0 0 4 0 0 0 0 0 0 0 186387 chr12 77427653 77427653 C T rs56326032 E2F7 Synonymous SNV P431P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 14.42 186388 chr17 21319223 21319223 G A rs372398945 KCNJ12, KCNJ18 Nonsynonymous SNV R190Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 186389 chr12 56115199 56115199 C T rs748707514 RDH5 Synonymous SNV H77H 0.003 0 0 0 4 0 0 0 0 0 0 0 1.014 186390 chr14 24543950 24543950 G A rs751079071 CPNE6 Synonymous SNV P206P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.5 186391 chr12 56578685 56578685 G A SMARCC2 Synonymous SNV C145C 0.003 0 0 0 4 0 0 0 0 0 0 0 8.835 186392 chr14 24898239 24898239 A G CBLN3 Nonsynonymous SNV W8R 0.003 0 0 0 4 0 0 0 0 0 0 0 9.919 186393 chr19 1223125 1223125 C G rs59912467 STK11 Nonsynonymous SNV F354L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.838 186394 chr11 67174357 67174357 C T rs142410416 TBC1D10C Synonymous SNV H135H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.61 186395 chr3 119165920 119165920 G C rs367905542 TMEM39A Nonsynonymous SNV L174V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.87 186396 chr19 13320186 13320186 G C rs554393704 CACNA1A Nonsynonymous SNV R2157G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 186397 chr17 33310401 33310401 C T rs770559358 LIG3 Nonsynonymous SNV P126L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 186398 chr11 688417 688417 T G DEAF1 Nonsynonymous SNV E144A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 186399 chr19 14288426 14288426 G A rs747688097 ADGRL1 Synonymous SNV D67D 0 0 0.007 0 0 0 0 2 0 0 0 0 11.24 186400 chr17 33585765 33585765 - A rs751719888 SLFN5 Frameshift insertion V21Sfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 186401 chr19 14755036 14755036 G - rs767734724 ADGRE3 Q186Rfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 186402 chr2 120704141 120704141 A G rs140207753 PTPN4 Synonymous SNV P549P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.612 186403 chr14 51208425 51208425 C T rs375323558 NIN Nonsynonymous SNV V1062M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 186404 chr2 128366288 128366288 G A rs201458881 MYO7B Synonymous SNV P883P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.06 186405 chr2 131103624 131103624 C T rs114061533 IMP4 Nonsynonymous SNV P125S 0.003 0 0 0 4 0 0 0 0 0 0 0 28.4 186406 chr2 131796548 131796548 G A rs114893794 ARHGEF4 Synonymous SNV E1416E 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 9.673 186407 chr14 55236914 55236914 C T rs761374701 SAMD4A Synonymous SNV D154D 0.004 0 0 0 5 0 0 0 0 0 0 0 13.55 186408 chr2 133175250 133175250 A G rs58748621 GPR39 Nonsynonymous SNV N212S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.802 186409 chr2 133427670 133427670 G T rs528374856 LYPD1 Nonsynonymous SNV P4Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.342 186410 chr2 135744139 135744139 T C rs139614326 MAP3K19 Nonsynonymous SNV Q655R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 186411 chr2 152322097 152322097 T C rs555385962 RIF1 Synonymous SNV N2021N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.254 186412 chr17 3924489 3924489 G A rs143702065 ZZEF1 Synonymous SNV G2446G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.709 186413 chr3 138669405 138669405 T C rs146602024 FOXL2NB Synonymous SNV C173C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.12 186414 chr19 2078142 2078142 C T rs778537308 MOB3A Nonsynonymous SNV V140I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 186415 chr13 29068950 29068950 G A FLT1 Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 186416 chr2 165551053 165551053 G T rs1026571533 COBLL1 Nonsynonymous SNV P950H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 186417 chr9 119737522 119737522 G A rs374483218 ASTN2 Synonymous SNV T567T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.62 186418 chr19 21990670 21990670 T C ZNF43 Synonymous SNV E658E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 186419 chr9 123476540 123476540 C A MEGF9 Nonsynonymous SNV A33S 0.001 0.003 0.003 5 1 1 0.013 1 0 0 0 0 22.4 186420 chr14 73989369 73989369 G T rs148447544 HEATR4 Nonsynonymous SNV P163H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.12 186421 chr19 2389855 2389855 G A rs778180706 TMPRSS9 Synonymous SNV A24A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.668 186422 chr3 155611366 155611366 C T rs371845228 GMPS Synonymous SNV V29V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.35 186423 chr9 125288931 125288931 G A rs369526229 OR1N1 Synonymous SNV T214T 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 0.677 186424 chr2 169764287 169764287 T C rs150538801 G6PC2 Nonsynonymous SNV F256L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 186425 chr13 36686147 36686147 G A rs571952517 DCLK1 Synonymous SNV G194G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 186426 chr17 41599509 41599509 C G rs368258592 DHX8 Nonsynonymous SNV P1029A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 186427 chr19 34960031 34960031 C T rs767513822 UBA2 Nonsynonymous SNV R610C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 186428 chr2 176947072 176947072 A G rs999032267 EVX2 Nonsynonymous SNV L178P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 186429 chr13 114058267 114058267 C G LOC101928841 Nonsynonymous SNV R1413P 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 1.704 186430 chr14 90451010 90451010 C T rs773495625 TDP1 Synonymous SNV H345H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 186431 chr19 3585652 3585652 G T rs754337950 GIPC3 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.75 186432 chr2 179599098 179599098 A G rs201343844 TTN Synonymous SNV N3907N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.553 186433 chr19 36036001 36036001 T C rs139696096 GAPDHS Nonsynonymous SNV Y386H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 28.7 186434 chr13 21295946 21295946 C G IL17D Synonymous SNV S154S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.613 186435 chr17 46690833 46690833 G T HOXB8 Nonsynonymous SNV R155S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 186436 chr2 184024269 184024269 T A rs61756082 NUP35 Nonsynonymous SNV F264L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.26 186437 chr19 36912178 36912178 - A rs11388742 LOC644189 0 0 0.024 0 0 0 0 7 0 0 0 0 186438 chr14 94931042 94931042 A G rs202070363 SERPINA9 0.001 0 0 0 1 0 0 0 0 0 0 0 24 186439 chr3 192988439 192988439 G T PLAAT1 Nonsynonymous SNV G151V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 186440 chr19 38385091 38385091 C T rs190422233 WDR87 Nonsynonymous SNV D418N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 186441 chr2 190593090 190593090 G A rs139078107 ANKAR Nonsynonymous SNV G992E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 186442 chr12 117768540 117768540 G A rs75386866 NOS1 Nonsynonymous SNV T112I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 186443 chr13 37586402 37586402 C G rs192718830 SUPT20H Nonsynonymous SNV Q675H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 186444 chr19 3913825 3913825 A G rs377597493 ATCAY Synonymous SNV E312E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.247 186445 chr13 39261784 39261784 C A rs8002488 FREM2 Synonymous SNV P101P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 20.8 186446 chr12 119916980 119916980 T C rs139622845 CCDC60 Synonymous SNV I141I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.085 186447 chr13 39424191 39424191 C T rs61745902 FREM2 Synonymous SNV F2132F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.57 186448 chr13 39425109 39425109 G A rs61749310 FREM2 Synonymous SNV E2202E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.956 186449 chr13 39546720 39546720 C T rs61744586 STOML3 Nonsynonymous SNV V81I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.618 186450 chr13 39554199 39554199 G A rs141847604 STOML3 Synonymous SNV G5G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.022 186451 chr13 39586850 39586850 A T rs17058955 PROSER1 Nonsynonymous SNV S825T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.9 186452 chr13 39586977 39586977 G A rs17058957 PROSER1 Synonymous SNV P782P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.64 186453 chr19 39976423 39976423 C T rs377224451 TIMM50 Synonymous SNV G43G 0 0 0.007 0 0 0 0 2 0 0 0 0 14.51 186454 chr13 41941704 41941704 G A rs746596095 NAA16 Nonsynonymous SNV A557T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 186455 chr3 196744082 196744082 A - MELTF D264Efs*89 0 0.003 0 0 0 1 0 0 0 0 0 0 186456 chr19 40360864 40360864 A G FCGBP Nonsynonymous SNV Y5182H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 186457 chr2 201768369 201768369 G C rs777843189 NIF3L1 Nonsynonymous SNV E368Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 186458 chr13 45149596 45149596 T C rs969153275 TSC22D1 Synonymous SNV P205P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.494 186459 chr19 41086253 41086253 C A rs373689117 SHKBP1 Synonymous SNV R142R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 186460 chr19 41173516 41173516 G A rs554497777 NUMBL Nonsynonymous SNV P522S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 186461 chr15 31218097 31218097 G A rs747737209 FAN1 Nonsynonymous SNV E815K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 186462 chr2 203748437 203748437 G A rs368194370 WDR12 Nonsynonymous SNV T201M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 186463 chr17 58151230 58151230 C T HEATR6 Synonymous SNV Q115Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 186464 chr9 139272904 139272904 G C SNAPC4 Synonymous SNV P1125P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.061 186465 chr9 139370832 139370832 C T rs182982104 SEC16A Synonymous SNV P412P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 186466 chr4 1808330 1808330 C T rs142884145 FGFR3 Nonsynonymous SNV R674W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.5 186467 chr15 34532885 34532885 C T rs200931772 SLC12A6 Nonsynonymous SNV G790S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 186468 chr12 124172640 124172640 T C TCTN2 Synonymous SNV T268T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.053 186469 chr19 42557793 42557793 C T GRIK5 Synonymous SNV Q410Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 186470 chr19 42814165 42814165 C T PRR19 Synonymous SNV G143G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.927 186471 chr11 62290434 62290434 C A AHNAK Stop gain G3819X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 186472 chr17 6350834 6350834 G C rs150484121 PIMREG Nonsynonymous SNV V116L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 186473 chr19 44223995 44223995 G A rs76105613 IRGC Nonsynonymous SNV G429R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 186474 chr11 62444384 62444384 C G rs111325595 UBXN1 Nonsynonymous SNV E190Q 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 18.55 186475 chr19 44351912 44351912 G A rs201107492 ZNF283 Nonsynonymous SNV G248S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.877 186476 chr11 62761083 62761083 C T rs11568486 SLC22A8 Nonsynonymous SNV V325I 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 7.671 186477 chr2 210824281 210824281 G A rs184869513 UNC80 Nonsynonymous SNV R2486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 186478 chr11 63531235 63531235 - GGC C11orf95 P572_R573insP 0.001 0 0 0 1 0 0 0 0 0 0 0 186479 chr9 15744329 15744329 A G rs149728947 CCDC171 Nonsynonymous SNV H711R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.087 186480 chr17 6719195 6719195 G A rs764843110 TEKT1 Nonsynonymous SNV A148V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 186481 chr17 673383 673383 T G rs145702773 GLOD4 Nonsynonymous SNV E159D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 186482 chr17 6901889 6901889 A C rs148602792 ALOX12 Nonsynonymous SNV K133N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 186483 chr2 220080845 220080845 C T rs60322991 ABCB6 Nonsynonymous SNV R297Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.9 186484 chr2 220098151 220098151 A G rs61747683 ANKZF1 Nonsynonymous SNV Y62C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 3.1 186485 chr15 42953372 42953372 A G rs148862329 STARD9 Nonsynonymous SNV N240S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 11.18 186486 chr15 43438747 43438747 T C TMEM62 Nonsynonymous SNV F46S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 186487 chr15 43476465 43476465 T G TMEM62 Nonsynonymous SNV F298C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 186488 chr2 220194358 220194358 C A rs16859790 RESP18 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.395 186489 chr2 220283192 220283192 A G DES Nonsynonymous SNV Q3R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 186490 chr2 220285002 220285002 T C rs75882680 DES Synonymous SNV I223I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 11.15 186491 chr19 45856521 45856521 G A rs3916876 ERCC2 Synonymous SNV V579V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.75 186492 chr17 7225083 7225083 C G rs950163373 NEURL4 Nonsynonymous SNV E963D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 186493 chr9 35717181 35717181 G A TLN1 Nonsynonymous SNV T807I 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 15.63 186494 chr9 35846542 35846542 C A rs374577537 TMEM8B Nonsynonymous SNV A268D 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17.75 186495 chr17 72916430 72916430 G C rs141688757 USH1G Synonymous SNV R64R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.879 186496 chr14 24976701 24976701 C T rs140753864 CMA1 Nonsynonymous SNV G24R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 186497 chr19 47774706 47774706 C T rs35119724 CCDC9 Nonsynonymous SNV A456V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 11.28 186498 chr9 36170317 36170317 G A rs140578907 CCIN Nonsynonymous SNV R273Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 186499 chr12 2786851 2786851 T C rs374986250 CACNA1C-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.817 186500 chr19 48305662 48305662 C G rs116460612 TPRX1 Synonymous SNV P202P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.88 186501 chr15 52556472 52556472 A G rs200832065 MYO5C Nonsynonymous SNV M321T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 186502 chr11 6635825 6635825 C T rs987390731 TPP1 Stop gain W548X 0.003 0 0 0 4 0 0 0 0 0 0 0 38 186503 chr9 446430 446430 G C DOCK8 Nonsynonymous SNV V1781L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.58 186504 chr11 66512290 66512290 - GGCGGCGGC C11orf80 A34_G35insAAA 0.005 0.013 0 4 6 5 0.01 0 0 1 0 0 186505 chr9 6536109 6536109 A T rs367759326 GLDC Synonymous SNV A931A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 5.094 186506 chr2 232323728 232323728 T G NCL Synonymous SNV G383G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.38 186507 chr17 7406772 7406772 C A rs764210684 POLR2A Synonymous SNV R999R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 186508 chr4 48559502 48559502 C T rs190657630 FRYL Nonsynonymous SNV V1365I 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 20.9 186509 chr15 62967475 62967475 C T rs199806066 TLN2 Synonymous SNV L304L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 186510 chr17 74287735 74287735 G T rs200262079 QRICH2 Nonsynonymous SNV L859I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.423 186511 chr4 57366721 57366721 T C rs145347209 SRP72 Synonymous SNV Y505Y 0 0.005 0 0 0 2 0 0 0 1 0 0 Likely benign 0.773 186512 chr2 234601954 234601954 C T UGT1A6 Stop gain R102X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 186513 chr19 50266437 50266437 G A rs138076602 TSKS Nonsynonymous SNV T23M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 186514 chr17 76122897 76122897 G C TMC6 Nonsynonymous SNV A6G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 186515 chr19 50979624 50979624 C G rs140306197 FAM71E1 Nonsynonymous SNV D8H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 186516 chr19 51135586 51135586 C G rs146108083 SYT3 Nonsynonymous SNV A211P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 186517 chr15 68582068 68582068 C G rs35525989 FEM1B Synonymous SNV P124P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.976 186518 chr15 68582359 68582359 G A rs34917142 FEM1B Synonymous SNV T221T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.15 186519 chr19 51670585 51670585 C G rs142780247 SIGLEC17P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.072 186520 chr14 31191113 31191113 C T rs759825546 SCFD1 Nonsynonymous SNV P402L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 186521 chr19 51841434 51841434 C A rs201785306 VSIG10L Synonymous SNV P586P 0 0 0.007 0 0 0 0 2 0 0 0 0 18.92 186522 chr11 74208091 74208091 A T rs117686421 LOC100287896 Nonsynonymous SNV R47S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.43 186523 chr19 51986317 51986317 C A rs750841889 CEACAM18 Nonsynonymous SNV N240K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 186524 chr14 60933671 60933671 G A rs532006087 C14orf39 Nonsynonymous SNV P287S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 186525 chr11 75526482 75526482 C T rs7118569 UVRAG Synonymous SNV P10P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.82 186526 chr15 74327556 74327556 C T rs78340702 PML Nonsynonymous SNV A537V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.011 186527 chr2 241831155 241831155 C G rs78562453 MAB21L4 Nonsynonymous SNV R180S 0.004 0 0.007 0 5 0 0 2 0 0 0 0 14.59 186528 chr14 65253455 65253455 C A rs45507992 SPTB Nonsynonymous SNV W1076C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 186529 chr14 50100132 50100132 T G rs377351035 DNAAF2 Nonsynonymous SNV K579T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 186530 chr14 50100272 50100272 T G rs374369407 DNAAF2 Nonsynonymous SNV E532D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.281 186531 chr4 88766992 88766992 G A rs374783833 MEPE Synonymous SNV A324A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.106 186532 chr4 88767461 88767461 C T rs61731015 MEPE Nonsynonymous SNV R481W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.47 186533 chr3 3080651 3080651 C T rs568318866 CNTN4 Synonymous SNV G380G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 186534 chr4 89625407 89625407 A G rs372060590 HERC3 Nonsynonymous SNV N821S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.63 186535 chr17 79096998 79096998 G A rs750223775 AATK Nonsynonymous SNV R267C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 186536 chr11 7960311 7960311 C T rs146467002 OR10A3 Nonsynonymous SNV G253S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 186537 chr4 96104111 96104111 T A rs201410096 UNC5C Nonsynonymous SNV K796N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 186538 chr4 100570622 100570622 G C C4orf54 Nonsynonymous SNV F1728L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 186539 chr17 80043150 80043150 C T rs749909107 FASN Synonymous SNV V1417V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 186540 chr14 55510288 55510288 A G rs757949613 SOCS4 Nonsynonymous SNV K177E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 186541 chr14 74824287 74824287 G A rs146700227 VRTN Synonymous SNV P267P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.553 186542 chr17 8108230 8108230 G A rs746570349 AURKB Nonsynonymous SNV R164W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 186543 chr3 13373815 13373815 A G rs140191906 NUP210 Nonsynonymous SNV Y1305H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.788 186544 chr4 115749083 115749083 C T rs144308952 NDST4 Synonymous SNV T836T 0 0.005 0 0 0 2 0 0 0 1 0 0 14.21 186545 chr4 119252887 119252887 T A PRSS12 Nonsynonymous SNV R319W 0 0.005 0 0 0 2 0 0 0 1 0 0 32 186546 chr17 9822974 9822974 T C rs776365443 GAS7 Nonsynonymous SNV K256R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 186547 chr12 55726266 55726266 C G rs1042675151 OR6C3 Nonsynonymous SNV A261G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.5 186548 chr14 81864647 81864647 T C STON2 Nonsynonymous SNV H27R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.19 186549 chr14 68050491 68050491 C T rs75288035 PLEKHH1 Nonsynonymous SNV P1154S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 186550 chr14 69791480 69791480 G A rs767361760 GALNT16 Nonsynonymous SNV R136H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 186551 chrX 16761896 16761896 G A rs753989361 SYAP1 Nonsynonymous SNV V170M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 186552 chr19 56413470 56413470 A G NLRP13 Nonsynonymous SNV L907P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 186553 chr14 71413647 71413647 A G rs543240522 PCNX1 Nonsynonymous SNV M57V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.73 186554 chr4 151773470 151773470 T C rs553138286 LRBA Nonsynonymous SNV D1131G 0 0.005 0 0 0 2 0 0 0 0 0 0 3.742 186555 chr18 2885063 2885063 A G rs766458687 EMILIN2 Nonsynonymous SNV E120G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 186556 chr3 38348813 38348813 G A rs754369896 SLC22A14 Synonymous SNV P195P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.24 186557 chr3 38542915 38542915 A G rs200753937 EXOG Nonsynonymous SNV N78S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 186558 chr4 156753017 156753017 A T rs150718620 ASIC5 Nonsynonymous SNV I429K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 186559 chr4 157891943 157891943 T C rs139145392 PDGFC Nonsynonymous SNV Q38R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.016 186560 chr14 75936003 75936003 G A rs760986826 JDP2 Nonsynonymous SNV R106Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 186561 chr14 77744827 77744827 C T rs200163818 POMT2 Nonsynonymous SNV R686Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 186562 chr16 15129927 15129927 G A rs148061029 PDXDC1 Nonsynonymous SNV S694N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 31 186563 chrX 53602681 53602681 A G rs782202317 HUWE1 Synonymous SNV G1984G 0 0 0 4 0 0 0.01 0 0 0 0 1 Benign 4.999 186564 chrX 63574807 63574807 A T MTMR8 Synonymous SNV P106P 0 0 0 3 0 0 0.008 0 0 0 0 1 0.634 186565 chrX 64137723 64137723 A T rs6653206 ZC4H2 Nonsynonymous SNV F151Y 0.003 0.005 0 3 4 2 0.008 0 1 1 0 1 Benign 0.005 186566 chrX 64139051 64139051 T C rs6524946 ZC4H2 Synonymous SNV T121T 0.003 0.005 0 3 4 2 0.008 0 1 1 0 1 Benign 0.087 186567 chr14 81610645 81610645 C T rs759180104 TSHR Nonsynonymous SNV T748I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 19.83 186568 chrX 69479048 69479048 C T P2RY4 Nonsynonymous SNV A143T 0 0 0 3 0 0 0.008 0 0 0 0 1 16.45 186569 chr16 16276279 16276279 A G rs769753486 ABCC6 Nonsynonymous SNV I746T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.49 186570 chr18 44172530 44172530 A G LOXHD1 Synonymous SNV L483L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.375 186571 chr12 117365882 117365882 A G FBXW8 Nonsynonymous SNV I59V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 186572 chr14 92091332 92091332 T C CATSPERB Nonsynonymous SNV I588V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.27 186573 chr19 7964670 7964670 G A rs750935299 LRRC8E Synonymous SNV L292L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.897 186574 chr4 186545626 186545626 A G rs771208064 SORBS2 Synonymous SNV C219C 0 0.005 0 0 0 2 0 0 0 1 0 0 1.815 186575 chr4 187542431 187542431 T C rs780925038 FAT1 Nonsynonymous SNV Y1770C 0 0.005 0.003 1 0 2 0.003 1 0 1 0 0 22.9 186576 chr16 20357468 20357468 G T UMOD Nonsynonymous SNV P388T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 186577 chr5 473421 473421 G T rs1036874312 SLC9A3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.258 186578 chr19 8495556 8495556 G A rs368543175 MARCHF2 Synonymous SNV P129P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.459 186579 chr19 8555548 8555548 G A rs550925487 PRAM1 Synonymous SNV R612R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 186580 chr19 861884 861884 G A rs764006608 CFD Synonymous SNV R188R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 186581 chr3 48453279 48453279 C T rs146664022 PLXNB1 Nonsynonymous SNV R1747H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 29.1 186582 chr14 95657986 95657986 G A rs147953886 CLMN Nonsynonymous SNV P975L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 186583 chr3 49150049 49150049 C T rs187920499 USP19 Nonsynonymous SNV R724H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 28.8 186584 chr10 104160575 104160575 C T rs201623844 NFKB2 Synonymous SNV V654V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 14.73 186585 chr3 49758309 49758309 G A rs763207565 RNF123 Synonymous SNV Q1240Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.01 186586 chr3 49830709 49830709 T A rs755832689 CDHR4 Synonymous SNV P553P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.59 186587 chr15 41962080 41962080 C G rs182187974 MGA Nonsynonymous SNV R330G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Likely benign 16.94 186588 chr18 61390475 61390475 G C rs374608870 SERPINB11 Nonsynonymous SNV E166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 186589 chr3 52555620 52555620 T C rs762044357 STAB1 Nonsynonymous SNV C2023R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 186590 chr15 30010822 30010822 G A rs369698803 TJP1 Nonsynonymous SNV A1095V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.632 186591 chr18 66504173 66504173 G A rs775750166 CCDC102B Nonsynonymous SNV C58Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 186592 chr18 66506046 66506046 C G rs75713049 CCDC102B Nonsynonymous SNV T237R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.015 186593 chr16 29824442 29824442 G A rs140383655 PRRT2 Nonsynonymous SNV E23K 0.003 0 0 3 4 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.847 186594 chr15 33261474 33261474 C G rs201857969 FMN1 Nonsynonymous SNV E587Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 186595 chr5 33631015 33631015 T A rs140814200 ADAMTS12 Nonsynonymous SNV H631L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 186596 chr16 30081477 30081477 G A rs138824667 ALDOA Nonsynonymous SNV G347S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.6 186597 chr15 33955803 33955803 A G rs187371252 RYR3 Synonymous SNV A1828A 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 10.09 186598 chr16 31096320 31096320 C T rs751441935 PRSS53 Nonsynonymous SNV V354I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 186599 chr5 37006519 37006519 A C rs770047320 NIPBL Nonsynonymous SNV K1306Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24 186600 chr3 57902684 57902684 G A rs906541844 SLMAP Nonsynonymous SNV M181I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.76 186601 chr18 77679298 77679298 A G rs768553253 SLC66A2 Nonsynonymous SNV I147T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 186602 chr5 40832758 40832758 C T rs374629993 SNORD72 0 0.003 0 0 0 1 0 0 0 0 0 0 5.435 186603 chr3 64592699 64592699 C A ADAMTS9 Synonymous SNV G1109G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 186604 chr1 100970385 100970385 C T rs772862912 CDC14A Synonymous SNV L591L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.356 186605 chr1 1021355 1021355 C T rs747701871 C1orf159 Synonymous SNV T116T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 186606 chr3 73673463 73673463 C T rs540479588 PDZRN3 Nonsynonymous SNV A172T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 186607 chr1 109377556 109377556 C T rs143487473 AKNAD1 Synonymous SNV P553P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 186608 chr3 88205681 88205681 A C rs144964842 C3orf38 Nonsynonymous SNV S296R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 23 186609 chr10 126480302 126480302 - T EEF1AKMT2 Frameshift insertion T34Nfs*10 0 0 0 2 0 0 0.005 0 0 0 0 0 186610 chr16 424808 424808 G A rs982895491 PGAP6 Synonymous SNV C508C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.876 186611 chr3 98001874 98001874 T C rs190503269 OR5H2 Nonsynonymous SNV L48P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 186612 chr12 23818482 23818482 G A SOX5 Nonsynonymous SNV P266L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 186613 chr13 23853609 23853609 G A rs776289036 SGCG Nonsynonymous SNV R166Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.7 186614 chr19 1081650 1081650 C T rs368248990 ARHGAP45 Synonymous SNV S399S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 186615 chr19 11097188 11097188 G A rs769096295 SMARCA4 Nonsynonymous SNV A227T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.3 186616 chr19 11211007 11211007 C T rs747297176 LDLR Nonsynonymous SNV S59F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 186617 chr19 11230899 11230899 C A rs72658866 LDLR Synonymous SNV T491T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 12.99 186618 chr16 5078969 5078969 C A NAGPA Nonsynonymous SNV D278Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 186619 chr15 66621406 66621406 C T rs146138070 DIS3L Nonsynonymous SNV S641L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 186620 chr19 11417331 11417331 G A TSPAN16 Nonsynonymous SNV E143K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 186621 chr5 70786830 70786830 G T rs7709578 BDP1 Nonsynonymous SNV R504S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 2.401 186622 chr5 70805666 70805666 C G rs201059861 BDP1 Nonsynonymous SNV P916R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 186623 chr5 70805984 70805984 G A rs61734265 BDP1 Nonsynonymous SNV R1022K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.116 186624 chr5 70828251 70828251 G A rs35126870 BDP1 Synonymous SNV P1963P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.411 186625 chr13 28578283 28578283 G A rs138003347 FLT3 Nonsynonymous SNV S963L 0.003 0 0 0 3 0 0 0 0 0 0 0 not provided 10.86 186626 chr16 56686510 56686510 G C rs61744104 MT1B Nonsynonymous SNV C19S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.2 186627 chr5 74491731 74491731 G A ANKRD31 Nonsynonymous SNV R248C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 186628 chr16 57468104 57468104 G A rs577718852 CIAPIN1 Synonymous SNV T123T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.573 186629 chr1 120166030 120166030 C T rs750755044 ZNF697 Synonymous SNV T312T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 186630 chr13 35733529 35733529 T C rs776620418 NBEA Nonsynonymous SNV M1074T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.542 186631 chr15 75090988 75090988 C T rs754618579 CSK Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 186632 chr19 14020723 14020723 G T rs368933699 CC2D1A Nonsynonymous SNV A50S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 24.1 186633 chr19 14517183 14517183 A G ADGRE5 Nonsynonymous SNV Y528C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 186634 chr19 14862353 14862353 T C rs113941589 ADGRE2 Nonsynonymous SNV N582S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 186635 chr5 82836796 82836796 A T VCAN Nonsynonymous SNV E1671D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.261 186636 chr1 145586839 145586839 C G rs16827062 NUDT17 Nonsynonymous SNV K283N 0 0.003 0.01 0 0 1 0 3 0 0 0 0 30 186637 chr10 27815806 27815806 A C RAB18 Nonsynonymous SNV K58N 0 0 0 2 0 0 0.005 0 0 0 0 0 28.7 186638 chr3 124492670 124492670 G A rs753371523 ITGB5 Nonsynonymous SNV R442W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 186639 chr16 71683487 71683487 A C PHLPP2 Nonsynonymous SNV V1026G 0.002 0 0 0 2 0 0 0 0 0 0 0 25 186640 chr10 32317454 32317454 T C rs148844791 KIF5B Nonsynonymous SNV M543V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.028 186641 chr3 126707469 126707469 C T rs373455804 PLXNA1 Synonymous SNV L11L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.694 186642 chr19 16006336 16006336 C T rs148396222 CYP4F2 Nonsynonymous SNV R108Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 186643 chr3 127540591 127540591 T C rs771477969 MGLL Nonsynonymous SNV N24S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.4 186644 chr19 16318904 16318904 G C rs143435975 AP1M1 Synonymous SNV L114L 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 6.962 186645 chr19 16636483 16636483 T G rs906971831 CHERP Synonymous SNV P437P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.207 186646 chr3 129155415 129155415 T C MBD4 Nonsynonymous SNV I358V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.024 186647 chr3 129180119 129180119 A G rs138793724 IFT122 Synonymous SNV Q107Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.119 186648 chr1 152884023 152884023 C T rs368244218 IVL Nonsynonymous SNV H584Y 0 0 0.007 0 0 0 0 2 0 0 0 0 13.94 186649 chr1 154215737 154215737 G T rs148258886 UBAP2L Synonymous SNV V267V 0.003 0 0.007 0 4 0 0 2 0 0 0 0 11.7 186650 chr15 70957086 70957086 T A rs781446308 UACA Nonsynonymous SNV Y1330F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.59 186651 chr19 17397456 17397456 - GT ANKLE1 Frameshift insertion L591Vfs*19 0.003 0.003 0 0 3 1 0 0 0 0 0 0 186652 chr5 115823862 115823862 C G rs752444062 SEMA6A Nonsynonymous SNV G229A 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 186653 chr5 118691795 118691795 G A rs185453867 TNFAIP8 Nonsynonymous SNV E4K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.45 186654 chr3 134977950 134977950 G A rs16842880 EPHB1 Synonymous SNV T981T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.647 186655 chr3 136016912 136016912 C T rs142730126 PCCB Synonymous SNV P294P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.18 186656 chr5 127450282 127450282 A G rs115395895 SLC12A2 Synonymous SNV L319L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.406 186657 chr3 137805848 137805848 T C rs147201722 DZIP1L Synonymous SNV R339R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.109 186658 chr10 49939167 49939167 A G rs916743760 WDFY4 Nonsynonymous SNV K381R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 186659 chr3 140407017 140407017 G A rs747851912 TRIM42 Nonsynonymous SNV R498H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 186660 chr3 142217441 142217441 C A ATR Synonymous SNV V1788V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.667 186661 chr1 156708142 156708142 A G rs376958674 MRPL24 Nonsynonymous SNV L91P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 186662 chr15 91341447 91341447 G A rs771767745 BLM Nonsynonymous SNV D1080N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 186663 chr3 151094930 151094930 G T MED12L Nonsynonymous SNV S1392I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 186664 chr3 151174839 151174839 G A rs746191784 IGSF10 Nonsynonymous SNV T100I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 186665 chr14 20389537 20389537 T C OR4K5 Nonsynonymous SNV Y258H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 186666 chr10 63170287 63170287 T C rs755609953 TMEM26 Synonymous SNV Q300Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.407 186667 chr16 88495872 88495872 C T rs184583062 ZNF469 Nonsynonymous SNV P665L 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Likely benign 23.7 186668 chr10 70406527 70406527 G A rs149677665 TET1 Synonymous SNV P1347P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.24 186669 chr19 2435112 2435112 G A rs767801199 LMNB2 Nonsynonymous SNV R248W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 186670 chr3 179131269 179131269 T A rs779372670 GNB4 Nonsynonymous SNV L210F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.9 186671 chr16 14031664 14031664 G A rs760922582 ERCC4 Nonsynonymous SNV R618H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 186672 chr1 161681753 161681753 G C rs34733000 FCRLA Nonsynonymous SNV V37L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.004 186673 chr19 2917613 2917613 G A rs184508498 ZNF57 Nonsynonymous SNV G300R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 186674 chr14 21552071 21552071 C T rs770720139 ARHGEF40 Synonymous SNV L503L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.29 186675 chr1 162345160 162345160 G C rs144712469 SPATA46 Nonsynonymous SNV S46C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 186676 chr3 184062706 184062706 C T FAM131A Nonsynonymous SNV S265F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.7 186677 chr16 16251627 16251627 - G rs72664220 ABCC6 Frameshift insertion W1259Lfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 186678 chr10 75289380 75289380 A G rs146302041 USP54 Synonymous SNV T706T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.941 186679 chr1 168105550 168105550 C T rs868290532 GPR161 Nonsynonymous SNV A29T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.531 186680 chr1 1684348 1684350 CCT - rs779517484 NADK E413del 0.004 0 0.007 2 5 0 0.005 2 0 0 0 0 186681 chr1 1688719 1688719 C A rs78921781 NADK Synonymous SNV L66L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.348 186682 chr19 35504174 35504174 C T rs763243444 GRAMD1A Synonymous SNV R200R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 186683 chr5 147807290 147807290 G A rs368967979 FBXO38 Synonymous SNV T811T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 186684 chr14 24646562 24646562 C T rs200534101 REC8 Nonsynonymous SNV P236L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 186685 chr12 7044838 7044838 C T rs147993402 ATN1 Synonymous SNV Y136Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Uncertain significance 2.674 186686 chr19 36034299 36034299 G C rs372824286 GAPDHS Nonsynonymous SNV A267P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 186687 chr12 7045913 7045915 CAG - ATN1 Q502del 0.002 0 0 0 2 0 0 0 0 0 0 0 186688 chr10 85981790 85981790 G C rs757309860 LRIT2 Synonymous SNV A513A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.408 186689 chr1 173702857 173702857 C T rs34450473 KLHL20 Nonsynonymous SNV T10I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 186690 chr16 2203361 2203361 G A rs200678863 RAB26 Nonsynonymous SNV R237H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 186691 chr17 12666408 12666408 G A rs138291293 MYOCD Nonsynonymous SNV R755K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.39 186692 chr5 150111006 150111006 C T rs750473466 DCTN4 Nonsynonymous SNV A138T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 186693 chr1 17668520 17668520 C T rs765948740 PADI4 Synonymous SNV H245H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.996 186694 chr17 15983762 15983762 C G rs139706730 NCOR1 Nonsynonymous SNV E1136D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 186695 chr12 7805414 7805414 C T rs34275479 APOBEC1 Stop gain W21X 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 36 186696 chr1 178423759 178423759 G C RASAL2 Nonsynonymous SNV W581C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 186697 chr10 94450073 94450073 C T rs750572886 HHEX Synonymous SNV Y110Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.732 186698 chr14 39648605 39648605 T G rs755679483 PNN Nonsynonymous SNV I244M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 186699 chr16 2812107 2812107 A T rs202014148 SRRM2 Nonsynonymous SNV R526S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 186700 chr5 151784661 151784661 T G rs779684686 NMUR2 Nonsynonymous SNV E5A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.523 186701 chr14 45711289 45711289 A T MIS18BP1 Nonsynonymous SNV L364H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.83 186702 chr16 1550618 1550618 C A rs776139039 TELO2 Nonsynonymous SNV P400H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.92 186703 chr12 83289611 83289611 G A rs185249725 TMTC2 Synonymous SNV S223S 0.003 0 0 0 4 0 0 0 0 0 0 0 9.01 186704 chr14 50750685 50750685 C A rs780635764 L2HGDH Nonsynonymous SNV A203S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 186705 chr1 18149613 18149613 C A rs55738309 ACTL8 Nonsynonymous SNV P37Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 186706 chr3 196674804 196674804 C T rs549158792 PIGZ Nonsynonymous SNV G322S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 186707 chr5 159546174 159546174 - GGCGGCGGT rs778027669 PWWP2A P75_G76insPPP 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 186708 chr3 197607408 197607411 TCCT - LRCH3 L710Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 186709 chr4 502684 502684 A G rs373951989 PIGG Nonsynonymous SNV S143G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.83 186710 chr1 185093024 185093024 G C TRMT1L Nonsynonymous SNV T440R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 186711 chr1 1854579 1854579 A G rs115047896 CFAP74 Nonsynonymous SNV S1510P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 2.592 186712 chr1 1855343 1855343 G A rs144702864 CFAP74 Synonymous SNV S1420S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.46 186713 chr19 38960006 38960006 C G RYR1 Nonsynonymous SNV D1206E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 186714 chr19 39329136 39329136 G T HNRNPL Synonymous SNV S353S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 186715 chr1 18661482 18661482 C A rs35793095 IGSF21 Synonymous SNV G134G 0 0 0.007 0 0 0 0 2 0 0 0 0 16.16 186716 chr12 96180807 96180807 G A rs758912394 NTN4 Synonymous SNV S165S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 4.518 186717 chr16 2141464 2141464 C T rs950293866 PKD1 Nonsynonymous SNV R3890H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.4 186718 chr12 96386487 96386487 G A rs143844261 HAL Nonsynonymous SNV T21I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 27.2 186719 chr19 40363055 40363055 C T rs545601783 FCGBP Synonymous SNV A5005A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 186720 chr1 196927185 196927185 G T rs41257904 CFHR2 Stop gain E75X 0 0.003 0.017 2 0 1 0.005 5 0 0 0 0 Benign 35 186721 chr16 28328747 28328747 G A rs35448675 SBK1 Nonsynonymous SNV R12H 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 17.34 186722 chr13 100623598 100623598 A G ZIC5 Nonsynonymous SNV F111S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 186723 chr19 41622140 41622140 T C rs773326407 CYP2F1 Nonsynonymous SNV V16A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 186724 chr19 41838054 41838054 G A rs201281623 TGFB1 Synonymous SNV S331S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.488 186725 chr16 50342304 50342304 C G rs764479195 ADCY7 Nonsynonymous SNV C639W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 186726 chr5 178564855 178564855 G A rs756107603 ADAMTS2 Synonymous SNV F622F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 186727 chr19 42461243 42461243 A G RABAC1 Synonymous SNV Y132Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.819 186728 chr19 42566662 42566662 G T GRIK5 Nonsynonymous SNV S162R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 186729 chr14 65266481 65266481 C T rs141973081 SPTB Nonsynonymous SNV V350M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 26.7 186730 chr19 42713984 42713984 G T rs200005635 DEDD2 Nonsynonymous SNV P153T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.89 186731 chr4 6595071 6595071 G A rs370737290 MAN2B2 Stop gain W284X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 39 186732 chr5 180167038 180167038 A G rs375283162 OR2Y1 Synonymous SNV S7S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 186733 chr19 43969667 43969667 C T rs147118068 LYPD3 Synonymous SNV L19L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.91 186734 chr1 202795029 202795029 C T MGAT4EP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.309 186735 chr17 32954000 32954000 G C rs377511363 TMEM132E Nonsynonymous SNV V308L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.3 186736 chr16 57509461 57509461 G A rs375338208 DOK4 Synonymous SNV I82I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 186737 chr16 4387488 4387488 C T rs868318727 GLIS2 Nonsynonymous SNV P513L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 186738 chr1 205768200 205768200 C T rs754003330 SLC41A1 Synonymous SNV A194A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.87 186739 chr11 108188136 108188136 G A rs1800060 ATM Nonsynonymous SNV V2079I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.005 186740 chr11 111167140 111167140 C T rs147884428 COLCA1 Nonsynonymous SNV G22R 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 21.3 186741 chr11 111178967 111178967 C T rs768636407 COLCA2 Synonymous SNV H90H 0 0 0 3 0 0 0.008 0 0 0 0 0 7.714 186742 chr13 25373712 25373712 A T rs760411937 RNF17 Nonsynonymous SNV I527F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 186743 chr12 117968793 117968793 C T rs200159279 KSR2 Synonymous SNV P585P 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 15.89 186744 chr16 49670954 49670954 C T rs143934881 ZNF423 Synonymous SNV S586S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.59 186745 chr4 38051402 38051402 G A rs769152674 TBC1D1 Nonsynonymous SNV S598N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 186746 chr4 38777120 38777120 A C TLR10 Nonsynonymous SNV M31R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 186747 chr16 55525741 55525741 C T rs200422763 MMP2 Synonymous SNV H353H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.53 186748 chr17 38511531 38511531 G A rs140714166 RARA Synonymous SNV E246E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.26 186749 chr1 214794141 214794141 A G rs753743812 CENPF Synonymous SNV R239R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.363 186750 chr6 27805970 27805970 C G rs142211266 H2AC15 Nonsynonymous SNV V50L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 186751 chr16 76528954 76528954 G A rs138136389 CNTNAP4 Nonsynonymous SNV R614Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 186752 chr1 220253141 220253141 A G rs377302652 BPNT1 Synonymous SNV Y16Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.704 186753 chr11 118175717 118175717 G A rs147435007 CD3E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 186754 chr16 57965754 57965754 C T rs762031587 CNGB1 Synonymous SNV V461V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.21 186755 chr19 47858454 47858454 C T rs113972066 DHX34 Synonymous SNV N288N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.1 186756 chr1 22207236 22207236 G A rs775760692 HSPG2 Synonymous SNV L638L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.999 186757 chr4 57181407 57181407 C T rs199934924 CRACD Nonsynonymous SNV P580L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 186758 chr13 49906121 49906121 T A rs748504090 CAB39L Nonsynonymous SNV S266C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 186759 chr17 39464075 39464075 G A KRTAP16-1 Synonymous SNV T477T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 186760 chr14 96756058 96756058 G C rs144991946 ATG2B Nonsynonymous SNV R1981G 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 26.8 186761 chr6 39285570 39285570 G A rs146487869 KCNK16 Nonsynonymous SNV R163C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 186762 chr13 53277854 53277854 T G rs143162260 CNMD Nonsynonymous SNV Q293P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 186763 chr6 39839308 39839308 G A rs200668867 DAAM2 Nonsynonymous SNV R335Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 186764 chr4 70620823 70620823 G - rs773785995 SULT1B1 P38Qfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 186765 chr4 70808264 70808264 G A rs376905625 CSN1S1 Nonsynonymous SNV R115H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 186766 chr13 73482715 73482715 G T rs761287843 PIBF1 Nonsynonymous SNV R512L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 186767 chr16 84229892 84229892 C T rs141742506 ADAD2 Nonsynonymous SNV T481I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.933 186768 chr6 43144314 43144314 G A SRF Synonymous SNV V153V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 186769 chr19 50027999 50027999 C T rs771418792 FCGRT Synonymous SNV H279H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 186770 chr19 50334081 50334081 G T rs759964732 MED25 Synonymous SNV L346L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 9.118 186771 chr17 39959630 39959630 G A rs142371800 P3H4 Synonymous SNV D400D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.392 186772 chr17 40030171 40030171 G A rs781924155 ACLY Synonymous SNV C889C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.313 186773 chr19 50750278 50750278 C T rs747977914 MYH14 Nonsynonymous SNV R402C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 186774 chr1 228645883 228645883 C T HIST3H2BB Nonsynonymous SNV A18V 0 0 0.007 0 0 0 0 2 0 0 0 0 17.35 186775 chr14 102471428 102471428 A C DYNC1H1 Nonsynonymous SNV E1763A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 186776 chr14 103357741 103357741 C T rs369640883 TRAF3 Nonsynonymous SNV S269L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Uncertain significance 23.6 186777 chr16 7759499 7759499 C T RBFOX1 Stop gain Q402X 0.002 0 0 0 2 0 0 0 0 0 0 0 16.77 186778 chr6 53516929 53516929 A G rs1040270402 KLHL31 Nonsynonymous SNV C458R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 186779 chr1 234367177 234367177 C T SLC35F3 Nonsynonymous SNV R31W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 186780 chr1 234509341 234509341 C T rs554632402 COA6 Synonymous SNV R43R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 186781 chr4 89383340 89383340 G A rs747789900 HERC5 Nonsynonymous SNV R174K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 186782 chr4 89671759 89671759 G A rs755118899 FAM13A Nonsynonymous SNV R232W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 186783 chr14 104573195 104573195 C T rs371626868 ASPG Synonymous SNV A411A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 186784 chr1 236721600 236721600 G A rs143495736 HEATR1 Nonsynonymous SNV A1714V 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 24.3 186785 chr15 51201050 51201050 C G AP4E1 Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 186786 chr15 51207713 51207713 C G AP4E1 Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 186787 chr1 245766015 245766015 A G rs61831269 KIF26B Nonsynonymous SNV Q496R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.013 186788 chr17 4837394 4837394 G C rs953135490 GP1BA Nonsynonymous SNV D499H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.845 186789 chr1 247654863 247654863 T G rs955655753 OR2W5 Nonsynonymous SNV V145G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.246 186790 chr1 247654931 247654931 C T rs146064481 OR2W5 Nonsynonymous SNV R168W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.704 186791 chr19 54545179 54545179 C A rs765151792 VSTM1 Stop gain E62X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 186792 chr17 53045689 53045689 G A rs950499638 COX11 Synonymous SNV L107L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 186793 chr6 109274244 109274244 C T rs140340203 ARMC2 Synonymous SNV V370V 0 0.008 0 1 0 3 0.003 0 0 1 0 0 18.06 186794 chr19 54973311 54973311 C T rs773914060 LENG9 Nonsynonymous SNV G489R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 186795 chr4 140811329 140811329 G T MAML3 Nonsynonymous SNV P421T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 186796 chr12 52312870 52312870 A G rs146206499 ACVRL1 Nonsynonymous SNV T450A 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 186797 chr4 146073745 146073745 G C rs138980387 OTUD4 Nonsynonymous SNV Q241E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.1 186798 chr14 23994241 23994241 C T rs765623078 ZFHX2 Nonsynonymous SNV R1637H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 186799 chr6 112025236 112025236 A G rs777275989 FYN Synonymous SNV G171G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.245 186800 chr17 59760948 59760948 A G rs4987050 BRIP1 Synonymous SNV D1153D 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 186801 chr6 117888141 117888141 A G rs114510947 GOPC Synonymous SNV D370D 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 5.707 186802 chr15 72699469 72699469 T C rs147567382 TMEM202 Nonsynonymous SNV V177A 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 186803 chr17 1564328 1564328 G A rs113849788 PRPF8 Synonymous SNV L1489L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 8.771 186804 chr6 127608270 127608270 T C rs531678338 RNF146 Nonsynonymous SNV I171T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.98 186805 chr17 2275752 2275752 C T rs145047268 SGSM2 Synonymous SNV D541D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.75 186806 chr17 6555534 6555534 A G rs200915782 C17orf100 Nonsynonymous SNV S101G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 186807 chr11 3849131 3849131 T C rs774063554 RHOG Nonsynonymous SNV I80V 0.004 0 0 2 5 0 0.005 0 0 0 0 0 11.05 186808 chr17 27401010 27401010 G A rs115111915 TIAF1 Nonsynonymous SNV R70C 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 13.28 186809 chr1 32560546 32560546 G A rs374922912 TMEM39B Synonymous SNV A164A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.36 186810 chr19 57326077 57326077 T G rs56115175 PEG3 Synonymous SNV R1090R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.321 186811 chr6 139206935 139206935 C T rs199963616 ECT2L Stop gain Q743X 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 39 186812 chr4 185012401 185012401 C T rs148434007 ENPP6 Nonsynonymous SNV A418T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.8 186813 chr17 33510487 33510487 G C rs141514222 UNC45B Nonsynonymous SNV K726N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 186814 chr14 56107666 56107666 G C rs114095603 KTN1 Nonsynonymous SNV E667Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.9 186815 chr14 56133962 56133962 A G rs528750103 KTN1 Nonsynonymous SNV R1032G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 186816 chr19 58805779 58805779 C G rs1046849876 ZNF8 Nonsynonymous SNV T202S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.277 186817 chr1 40704359 40704359 C T rs761133694 RLF Nonsynonymous SNV R1329C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 186818 chr17 21319360 21319360 C T rs782569468 KCNJ12, KCNJ18 Nonsynonymous SNV R236W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 186819 chr19 58879843 58879843 A C rs568699747 ZNF837 Nonsynonymous SNV L286R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 186820 chr17 3514181 3514181 C T rs79800427 SHPK Synonymous SNV P370P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.31 186821 chr14 60483447 60483447 C T rs897492166 LRRC9 Stop gain R1086X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 39 186822 chr17 26731959 26731959 G C rs185900287 SLC46A1 Synonymous SNV V252V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 3.136 186823 chr6 159058825 159058825 C T rs374363477 DYNLT1 Synonymous SNV L43L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.72 186824 chr17 28651904 28651904 G T TMIGD1 Nonsynonymous SNV N190K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 186825 chr15 89836031 89836031 T C FANCI Nonsynonymous SNV L702P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 186826 chr19 7677440 7677440 C G rs141087775 CAMSAP3 Nonsynonymous SNV D687E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.002 186827 chr17 74151720 74151720 C T rs201646108 RNF157 Nonsynonymous SNV A541T 0.002 0 0 0 2 0 0 0 0 0 0 0 29 186828 chr1 52251498 52251498 G A OSBPL9 Synonymous SNV K438K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 186829 chr17 39197504 39197504 C T KRTAP1-1 Nonsynonymous SNV C49Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 186830 chr1 53453801 53453801 C T rs74638331 SCP2 Synonymous SNV G314G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.76 186831 chr17 7530080 7530080 C T SAT2 Synonymous SNV K157K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 186832 chr1 54394069 54394069 C G HSPB11 Nonsynonymous SNV D84H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 186833 chr19 871091 871091 C T rs776518471 MED16 Nonsynonymous SNV R754Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.79 186834 chr6 169625333 169625333 C T rs149756243 THBS2 Nonsynonymous SNV D894N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 186835 chr14 77275704 77275704 T C rs760685689 ANGEL1 Nonsynonymous SNV D116G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 186836 chr14 77493761 77493761 T C IRF2BPL Synonymous SNV Q125Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 186837 chr17 36484829 36484829 C T rs371556279 GPR179 Synonymous SNV T1541T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.58 186838 chr7 2108857 2108857 A T rs757569153 MAD1L1 Nonsynonymous SNV L305H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 186839 chr1 63862256 63862256 C T rs201074540 ALG6 Nonsynonymous SNV P52L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 186840 chr17 78157975 78157975 T C rs182551076 CARD14 Nonsynonymous SNV Y205H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.75 186841 chr17 37814986 37814986 G A rs772239501 STARD3 Nonsynonymous SNV A169T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 186842 chr1 6525267 6525267 G C rs144713080 TNFRSF25 Nonsynonymous SNV A59G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 186843 chr7 6456263 6456263 C T rs145934843 DAGLB Synonymous SNV L345L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 186844 chr7 6474461 6474461 T C rs200613175 DAGLB Nonsynonymous SNV I204V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 186845 chr1 75038035 75038035 T C rs139996120 ERICH3 Nonsynonymous SNV N1120S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.035 186846 chr14 94120111 94120111 C T rs752940118 UNC79 Nonsynonymous SNV A1898V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 186847 chr5 70308271 70308271 C G rs200427852 NAIP Nonsynonymous SNV E158Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.92 186848 chr17 79988496 79988496 G A rs771002076 LRRC45 Nonsynonymous SNV D610N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.71 186849 chr14 94845825 94845826 CT - SERPINA1 E347Gfs*12 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 186850 chr14 94845829 94845829 - AC SERPINA1 Frameshift insertion T346Sfs*7 0.005 0.008 0 2 6 3 0.005 0 0 0 0 0 186851 chr19 9084749 9084749 C A rs369149154 MUC16 Nonsynonymous SNV D2356Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.225 186852 chr1 8074233 8074233 A G rs767249167 ERRFI1 Synonymous SNV C142C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 186853 chr7 14378276 14378276 A G rs61753127 DGKB Synonymous SNV N644N 0.008 0.01 0.02 2 9 4 0.005 6 0 0 0 0 3.3 186854 chr17 39383224 39383224 C T rs150952626 KRTAP9-2 Synonymous SNV G106G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.068 186855 chr15 100252736 100252744 GCAGCAGCC - rs560400205 MEF2A Q351_P353del 0.001 0 0 0 1 0 0 0 0 0 0 0 186856 chr1 89473480 89473480 T - GBP3 N438Mfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 186857 chr17 47875916 47875916 T G rs148451296 KAT7 Synonymous SNV S192S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.494 186858 chr17 40262767 40262767 C T rs144023244 DHX58 Nonsynonymous SNV D179N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.429 186859 chr1 110294356 110294356 G A rs75744349 EPS8L3 Nonsynonymous SNV R432W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 186860 chr5 89990130 89990130 C T rs771150522 ADGRV1 Synonymous SNV F2519F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.77 186861 chr1 94054877 94054877 C T rs200436960 BCAR3 Nonsynonymous SNV A105T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 186862 chr17 40849753 40849753 C T rs141617249 CNTNAP1 Synonymous SNV C1250C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.69 186863 chr1 111959032 111959032 A G rs759261627 OVGP1 Synonymous SNV L357L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 186864 chr20 11249143 11249143 C T rs141827852 LOC339593 0 0 0.034 0 0 0 0 10 0 0 0 0 3.63 186865 chr1 1139498 1139498 C T rs11466693 TNFRSF18 Nonsynonymous SNV V173M 0.004 0.003 0 5 5 1 0.013 0 0 0 0 0 6.353 186866 chr1 1141885 1141885 T C rs368710708 TNFRSF18 Nonsynonymous SNV S23G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.028 186867 chr15 40752020 40752020 G A rs138759345 BAHD1 Nonsynonymous SNV G453R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 186868 chr7 43687110 43687110 - CAGGC rs768230064 COA1 Frameshift insertion R47Afs*8 0 0.003 0 1 0 1 0.003 0 0 0 0 0 186869 chr1 114483440 114483440 C T rs374243434 HIPK1 Synonymous SNV L145L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.495 186870 chr11 57575946 57575946 G A rs749282566 CTNND1 Nonsynonymous SNV V619M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 186871 chr5 107716523 107716523 C G rs1009714152 FBXL17 Nonsynonymous SNV Q290H 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 186872 chr7 44924055 44924055 C G PURB Nonsynonymous SNV S298T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 186873 chr20 1629930 1629930 C T rs148010539 SIRPG Stop gain W66X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 186874 chr15 42127393 42127393 C T rs148739127 JMJD7, JMJD7-PLA2G4B Synonymous SNV S148S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.62 186875 chr1 117663358 117663358 G A rs139632476 TRIM45 Nonsynonymous SNV H156Y 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 23.1 186876 chr5 112917394 112917394 C G YTHDC2 Nonsynonymous SNV T912S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 186877 chr18 44171945 44171945 T C rs770710016 LOXHD1 Nonsynonymous SNV I535M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.559 186878 chr5 121487961 121487961 T C rs116318604 ZNF474 Synonymous SNV P92P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 186879 chr5 127419925 127419925 - GCT rs756517331 SLC12A2 A107_G108insA 0.002 0 0 1 2 0 0.003 0 0 0 0 0 186880 chr1 120438777 120438777 G A rs201524569 ADAM30 Synonymous SNV P61P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.598 186881 chr5 130797607 130797607 G A rs371024199 RAPGEF6 Synonymous SNV I885I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 186882 chr5 131411454 131411454 C T rs2069640 CSF2 Nonsynonymous SNV T115I 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Likely benign 17.58 186883 chr17 6929789 6929789 C A rs199558467 BCL6B Nonsynonymous SNV F301L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 186884 chr20 31376800 31376800 C T rs759527333 DNMT3B Synonymous SNV G189G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 186885 chr5 139917111 139917111 A G ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV T2389A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 186886 chr7 80302107 80302107 T A rs763840954 CD36 Nonsynonymous SNV F344I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 186887 chr1 150997221 150997221 T C PRUNE1 Nonsynonymous SNV L157P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 186888 chr14 101347698 101347698 G T RTL1 Nonsynonymous SNV T1143N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 186889 chr20 3251172 3251172 G A rs61734536 C20orf194 Nonsynonymous SNV T896M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.817 186890 chr11 62457959 62457959 C T rs748736063 BSCL2 Synonymous SNV T423T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.44 186891 chr11 62910908 62910908 G A SLC22A24 Nonsynonymous SNV P115L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 186892 chr5 140515551 140515551 C G PCDHB5 Nonsynonymous SNV H179D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.84 186893 chr20 36850957 36850957 C G KIAA1755 Nonsynonymous SNV A422P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 186894 chr20 3802796 3802802 GGGCCCC - AP5S1 A12Ifs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 186895 chr7 92734926 92734927 AC - SAMD9 V162Ifs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 186896 chr17 62132108 62132108 T C rs774625333 ERN1 Nonsynonymous SNV I585V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 186897 chr20 42168943 42168943 G A rs773063331 L3MBTL1 Nonsynonymous SNV D686N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 186898 chr11 6432089 6432089 A C rs150119080 APBB1 Nonsynonymous SNV D163E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.001 186899 chr20 4228533 4228533 C G rs765627756 ADRA1D Nonsynonymous SNV V358L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 186900 chr5 146788312 146788312 A G rs201569659 DPYSL3 Synonymous SNV H337H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.381 186901 chr11 64880846 64880846 G A TM7SF2 Synonymous SNV Q153Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.723 186902 chr7 100411543 100411543 G C EPHB4 Synonymous SNV L563L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 186903 chr16 74496418 74496418 T C rs141820227 GLG1 Nonsynonymous SNV I957V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 186904 chr1 155172629 155172629 C T rs149314712 THBS3 Nonsynonymous SNV G191S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 186905 chr7 100465524 100465524 T C TRIP6 Nonsynonymous SNV S51P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.8 186906 chr1 155408644 155408644 G A rs138474502 ASH1L Nonsynonymous SNV P1768S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.14 186907 chr20 44641904 44641904 T A rs747320334 MMP9 Synonymous SNV P447P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.195 186908 chr5 149582155 149582155 G A rs375148513 SLC6A7 Nonsynonymous SNV V326I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 186909 chr19 10286231 10286231 T C rs141264613 DNMT1 Synonymous SNV E195E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 0.101 186910 chr20 47865340 47865340 C T rs149086752 ZNFX1 Synonymous SNV K1407K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.898 186911 chr20 4850568 4850568 - G rs756862929 SLC23A2 Frameshift insertion I412Hfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 186912 chr14 22138895 22138895 G A OR4E1 Synonymous SNV L86L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.81 186913 chr17 7227475 7227475 C T rs758648088 NEURL4 Nonsynonymous SNV V672I 0.003 0 0 0 3 0 0 0 0 0 0 0 16.13 186914 chr17 72341008 72341008 C T rs200390291 KIF19 Nonsynonymous SNV R231C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 186915 chr17 72368168 72368169 GC - GPR142 G185Afs*190 0.001 0 0 0 1 0 0 0 0 0 0 0 186916 chr16 85114947 85114947 C G rs746182116 KIAA0513 Nonsynonymous SNV A310G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 186917 chr5 168180893 168180893 C T rs374334394 SLIT3 Nonsynonymous SNV R602H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 186918 chr20 60892813 60892813 G A rs140777270 LAMA5 Nonsynonymous SNV R2421W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 186919 chr19 12461268 12461268 A G ZNF442 Synonymous SNV Y308Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.251 186920 chr17 73262894 73262894 A G rs775612995 MIF4GD Nonsynonymous SNV I199T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 186921 chr19 13318671 13318671 - CCT rs772835259 CACNA1A Q2325_A2326insE 0.001 0 0 0 1 0 0 0 0 0 0 0 186922 chr17 7329687 7329687 G A SPEM2 Nonsynonymous SNV R126H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.95 186923 chr1 161719669 161719669 G A DUSP12 Synonymous SNV Q26Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.233 186924 chr20 61477063 61477063 C T rs143496454 DPH3P1 Synonymous SNV D16D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 186925 chr1 162467068 162467068 - T UHMK1 Stop gain D11* 0.001 0 0 0 1 0 0 0 0 0 0 0 186926 chr14 31869584 31869584 G A HEATR5A Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 186927 chr15 90380931 90380931 C G rs769976020 AP3S2, ARPIN-AP3S2 Synonymous SNV V123V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 186928 chr19 14584196 14584196 T C rs142814222 PTGER1 Nonsynonymous SNV M313V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.506 186929 chr11 73689113 73689113 C T rs778212690 UCP2 Nonsynonymous SNV R52H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.913 186930 chr19 14676615 14676615 C G rs539503764 TECR Nonsynonymous SNV R287G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 186931 chr7 103033496 103033496 T C rs117444825 SLC26A5 Nonsynonymous SNV N330S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 22.7 186932 chr20 62223906 62223906 T A rs142326335 GMEB2 Nonsynonymous SNV D270V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 186933 chr19 14991998 14991998 G T OR7A17 Nonsynonymous SNV T57N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.14 186934 chr20 62572817 62572818 TG - MIR1914 0 0 0.003 0 0 0 0 1 0 0 0 0 186935 chr7 116380062 116380062 A G rs781545528 MET Nonsynonymous SNV H54R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.2 186936 chr17 74392679 74392679 G A UBE2O Nonsynonymous SNV A780V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 186937 chr7 117365160 117365160 G A rs200259226 CTTNBP2 Nonsynonymous SNV L1385F 0 0.003 0 0 0 1 0 0 0 0 0 0 33 186938 chr19 16980405 16980405 C T rs151138680 SIN3B Synonymous SNV I237I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.27 186939 chr21 34537929 34537929 A G rs73205060 LINC01548 0 0 0.024 0 0 0 0 7 0 0 0 0 2.652 186940 chr1 17567234 17567234 G A rs762129125 PADI1 Synonymous SNV A579A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.807 186941 chr21 34923617 34923617 A G rs141608426 SON Nonsynonymous SNV T694A 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 Benign 16.98 186942 chr18 19057188 19057188 T C GREB1L Synonymous SNV N809N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.764 186943 chr21 35469282 35469282 T C SLC5A3 Synonymous SNV I595I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.02 186944 chr21 35469347 35469347 C T SLC5A3 Nonsynonymous SNV A617V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 186945 chr7 135047811 135047811 G C rs200460078 CNOT4 Nonsynonymous SNV H585Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 186946 chr19 17767114 17767114 C A rs150006719 UNC13A Synonymous SNV L287L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 15.07 186947 chr1 179057131 179057131 C T rs546288971 TOR3A Nonsynonymous SNV P242L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 186948 chr1 180382501 180382501 C T rs532496534 ACBD6 Synonymous SNV E191E 0.003 0 0 0 4 0 0 0 0 0 0 0 17.9 186949 chr6 21595170 21595170 G A rs151231613 SOX4 Synonymous SNV K135K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.585 186950 chr7 140373544 140373544 C G rs148381137 ADCK2 Synonymous SNV T138T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 186951 chr7 141727515 141727515 C T rs188481752 MGAM Nonsynonymous SNV R401C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 186952 chr17 79526422 79526422 G C rs201622340 NPLOC4 Nonsynonymous SNV P569A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.06 186953 chr1 185144000 185144000 C G SWT1 Nonsynonymous SNV R241G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.54 186954 chr19 19162630 19162630 A G rs369157884 ARMC6 Nonsynonymous SNV N135S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 186955 chr6 26108293 26108293 G C H1-6 Nonsynonymous SNV A10G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 186956 chr7 143077789 143077789 T C rs576406168 LOC100507507 0 0.003 0 0 0 1 0 0 0 0 0 0 6.164 186957 chr6 27276964 27276964 C T rs973454898 POM121L2 Nonsynonymous SNV G996S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 186958 chr6 28200671 28200671 C G rs779611442 ZSCAN9 Nonsynonymous SNV H300Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 186959 chr21 45161433 45161433 T C rs140485915 PDXK Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 2.761 186960 chr16 23690573 23690573 G A rs139594215 PLK1 Nonsynonymous SNV S107N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 18.84 186961 chr1 19500088 19500088 A G rs41273197 UBR4 Synonymous SNV L1004L 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 4.781 186962 chr19 23544106 23544106 A G ZNF91 Nonsynonymous SNV S527P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 186963 chr18 44625697 44625697 T C rs757369822 KATNAL2 Nonsynonymous SNV I288T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 186964 chr12 10659655 10659655 G A rs527760526 EIF2S3B Nonsynonymous SNV R385H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.5 186965 chr7 150390073 150390073 T C rs148143220 GIMAP2 Synonymous SNV D233D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 186966 chr21 46380062 46380062 A C rs147978360 FAM207A Synonymous SNV R111R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 186967 chr1 201104934 201104934 A G rs774994432 TMEM9 Nonsynonymous SNV S137P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 186968 chr1 201166351 201166351 C T rs773009696 IGFN1 Synonymous SNV N91N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 186969 chr21 46930112 46930112 G A rs368134801 COL18A1 Synonymous SNV L1387L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.932 186970 chr19 24310218 24310218 A G rs371484637 ZNF254 Nonsynonymous SNV I387M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.2 186971 chr6 35103966 35103966 C T rs199809733 TCP11 Nonsynonymous SNV V19I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 186972 chr7 150878319 150878319 C T rs762991342 ASB10 Nonsynonymous SNV A271T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 186973 chr7 151135255 151135255 G A rs145702098 CRYGN Nonsynonymous SNV R33W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 186974 chr19 3179057 3179057 G A rs117794457 S1PR4 Synonymous SNV T89T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.69 186975 chr18 56149157 56149157 G T rs375278224 ALPK2 Nonsynonymous SNV N2137K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 186976 chr6 37280704 37280704 G A rs958501830 TBC1D22B Synonymous SNV V331V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.2 186977 chr7 157046665 157046665 C T rs111389766 UBE3C Synonymous SNV F904F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.18 186978 chr21 48063469 48063469 G T rs142534220 PRMT2 Nonsynonymous SNV S21I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.448 186979 chr6 39159213 39159213 C G KCNK5 Nonsynonymous SNV G318A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.381 186980 chr1 203140266 203140266 G A rs199659160 MYBPH Stop gain Q286X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 186981 chr1 203276546 203276546 G A rs12039961 BTG2 Nonsynonymous SNV V153M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.336 186982 chr22 20128218 20128218 C A rs760080880 ZDHHC8 Nonsynonymous SNV P247T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 186983 chr6 43023742 43023742 G T rs762192745 MRPL2 Nonsynonymous SNV A175D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.97 186984 chr19 3613227 3613232 CCTCGC - rs377027152 CACTIN G537_E538del 0.001 0 0 0 1 0 0 0 0 0 0 0 186985 chr19 36595784 36595784 G A WDR62 Nonsynonymous SNV V1476M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.307 186986 chr22 24627493 24627493 G A GGT5 Stop gain Q177X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 186987 chr8 12612860 12612860 G C rs981007885 LONRF1 Nonsynonymous SNV R24G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 186988 chr22 25603079 25603079 G A rs149232677 CRYBB3 Nonsynonymous SNV R179H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 186989 chr16 50368638 50368638 T C rs200218240 BRD7 Nonsynonymous SNV S291G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.68 186990 chr18 77105438 77105438 A G rs766466044 ATP9B Nonsynonymous SNV K828R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.049 186991 chr22 26422656 26422656 C G MYO18B Nonsynonymous SNV S2240W 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 186992 chr8 17513425 17513425 G A rs201623386 MTUS1 Nonsynonymous SNV R91W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 186993 chr19 3754303 3754303 C T rs376765289 APBA3 Nonsynonymous SNV G218S 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 29.1 186994 chr22 28195602 28195602 - TGC rs781508557 MN1 Q309_H310insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 186995 chr1 214557686 214557686 C T rs756536450 PTPN14 Synonymous SNV G504G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.734 186996 chr22 29440848 29440848 C T rs149582571 ZNRF3 Synonymous SNV V238V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 186997 chr16 56693048 56693048 C A MT1F Nonsynonymous SNV A53E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 186998 chr12 124816883 124816883 G A rs370685396 NCOR2 Nonsynonymous SNV R2286W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 186999 chr8 21769958 21769958 G A DOK2 Synonymous SNV L43L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.524 187000 chr19 39214631 39214631 C A rs372902386 ACTN4 Nonsynonymous SNV R536S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 187001 chr16 57931396 57931396 G A rs200581517 CNGB1 Synonymous SNV H1043H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.891 187002 chr1 22211150 22211150 G A rs142071466 HSPG2 Nonsynonymous SNV H510Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 187003 chr12 130839548 130839548 T A PIWIL1 Nonsynonymous SNV H429Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.306 187004 chr16 68592407 68592407 C A ZFP90 Nonsynonymous SNV F64L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 187005 chr6 75893706 75893706 A G rs200496785 COL12A1 Synonymous SNV P384P 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.028 187006 chr6 76022192 76022192 C T rs147434989 FILIP1 Nonsynonymous SNV R1119Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23 187007 chr22 36714321 36714321 G A rs138502859 MYH9 Synonymous SNV T386T 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 Benign/Likely benign 13.08 187008 chr1 2268257 2268257 A G rs143484656 MORN1 Nonsynonymous SNV C357R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 187009 chr8 27456116 27456116 C T rs371136657 CLU Nonsynonymous SNV G401S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 187010 chr8 29202937 29202937 C T rs201338986 DUSP4 Nonsynonymous SNV G37D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 187011 chr22 38522378 38522378 G A rs146684391 PLA2G6 Nonsynonymous SNV T422I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.189 187012 chr8 37554797 37554797 C G rs753058728 ZNF703 Synonymous SNV P126P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.151 187013 chr6 90374252 90374252 C T rs760672699 MDN1 Synonymous SNV S4730S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 187014 chr22 40075406 40075406 G A CACNA1I Nonsynonymous SNV D1749N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 187015 chr22 40082365 40082365 C T rs368693215 CACNA1I Synonymous SNV P2174P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 187016 chr19 42872728 42872728 G A rs201140958 MEGF8 Nonsynonymous SNV R2065Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.6 187017 chr8 38109430 38109430 G T rs199730711 DDHD2 Nonsynonymous SNV G419C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 23.7 187018 chr22 42166894 42166894 G A rs199854922 MEI1 Nonsynonymous SNV A825T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.166 187019 chr18 77246492 77246492 C T rs143214085 NFATC1 Synonymous SNV G307G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.844 187020 chr8 41832227 41832227 G A rs61753684 KAT6A Synonymous SNV L493L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign/Likely benign 10.83 187021 chr6 100838879 100838879 C T SIM1 Synonymous SNV Q553Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.596 187022 chr19 44351579 44351579 T C ZNF283 Nonsynonymous SNV S137P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 187023 chr8 53568957 53568957 A G rs138885614 RB1CC1 Synonymous SNV H1144H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.451 187024 chr8 53853277 53853277 C A rs146623388 NPBWR1 Nonsynonymous SNV S270R 0 0.005 0 0 0 2 0 0 0 0 0 0 26.4 187025 chr6 105219093 105219093 C T HACE1 Nonsynonymous SNV S632N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 187026 chr8 56866414 56866414 A C LYN Synonymous SNV R200R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.544 187027 chr22 43996071 43996071 A C EFCAB6 Synonymous SNV P766P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 187028 chr16 81211581 81211581 G A rs373379734 PKD1L2 Synonymous SNV T71T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.06 187029 chr12 235014 235014 C T rs529134883 IQSEC3 Nonsynonymous SNV A280V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.5 187030 chr8 69633668 69633668 G A rs375647318 C8orf34 Nonsynonymous SNV G424E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 187031 chr22 45283881 45283881 G C rs759215827 PHF21B Nonsynonymous SNV P333A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 187032 chr12 25300001 25300001 A G rs140671974 CASC1 Nonsynonymous SNV M143T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 187033 chr8 71574001 71574001 C T LACTB2 Nonsynonymous SNV G85D 0 0.003 0 0 0 1 0 0 0 0 0 0 32 187034 chr8 81411986 81411986 T C rs772901833 ZBTB10 Synonymous SNV D410D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.216 187035 chr1 236141259 236141259 C T rs144862964 NID1 Nonsynonymous SNV G1218S 0.001 0 0 0 1 0 0 0 0 0 0 0 35 187036 chr15 63946386 63946386 T C rs769841535 HERC1 Nonsynonymous SNV T3408A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 187037 chr1 236154201 236154201 C T rs750878544 NID1 Synonymous SNV A971A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.92 187038 chr19 4510714 4510714 C T rs761764444 PLIN4 Synonymous SNV E1086E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.778 187039 chr1 236724529 236724529 C T rs143058283 HEATR1 Nonsynonymous SNV E1548K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 187040 chr22 50484388 50484388 G T rs200692754 TTLL8 Stop gain C171X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 187041 chr8 101118145 101118145 G A RGS22 Nonsynonymous SNV P2L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 187042 chr19 17373761 17373761 A G rs141014235 USHBP1 Nonsynonymous SNV L17P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 187043 chr19 4550849 4550849 G C SEMA6B Nonsynonymous SNV I361M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 187044 chr16 85133753 85133753 C T rs759998712 FAM92B Nonsynonymous SNV A249T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.296 187045 chr19 46519585 46519585 C T rs181058843 CCDC61 Nonsynonymous SNV A342V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.02 187046 chr17 48703802 48703802 T C rs370540873 CACNA1G Nonsynonymous SNV L2148P 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 23.4 187047 chr1 24384114 24384114 G T rs201441408 MYOM3 Nonsynonymous SNV L1352M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27 187048 chr19 472497 472497 C T rs138846359 ODF3L2 Synonymous SNV S44S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.56 187049 chr19 1469496 1469496 C G rs759510835 APC2 Nonsynonymous SNV P2065A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 187050 chr6 136913616 136913616 G A rs150394997 MAP3K5 Synonymous SNV C1005C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 12.37 187051 chr19 47960702 47960702 G A rs746285282 SLC8A2 Synonymous SNV D275D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.137 187052 chr8 124162292 124162292 A G rs564566259 TBC1D31 Synonymous SNV Q796Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 187053 chr19 48229082 48229082 G A rs762224358 EHD2 Synonymous SNV P172P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.5 187054 chr12 49437708 49437708 T C KMT2D Synonymous SNV Q1754Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.748 187055 chr2 10583879 10583879 C T rs61733045 ODC1 Nonsynonymous SNV R49K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 187056 chr6 142456041 142456041 C G rs41289831 GJE1 Stop gain Y200X 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 36 187057 chr6 143080996 143080996 C T rs192032720 HIVEP2 Synonymous SNV A2143A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.98 187058 chr19 4852041 4852041 C T rs759408719 PLIN3 Synonymous SNV T207T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.79 187059 chr8 128750667 128750667 C T rs372115981 MYC Synonymous SNV F67F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 187060 chr6 144809945 144809945 C T UTRN Nonsynonymous SNV A1370V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 187061 chr6 145103090 145103090 A G rs772908530 UTRN Nonsynonymous SNV I2889V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.72 187062 chr12 50500693 50500693 C G rs764224317 GPD1 Nonsynonymous SNV A179G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 187063 chr6 147055138 147055138 T G ADGB Synonymous SNV V922V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.204 187064 chr17 61513130 61513130 G A rs758664675 CYB561 Synonymous SNV Y108Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.011 187065 chr15 81635632 81635632 G T rs759792425 TMC3 Nonsynonymous SNV Q568K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.6 187066 chr17 10351409 10351409 C T rs141756717 MYH4 Nonsynonymous SNV R1564H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 187067 chr19 2413827 2413827 C T rs150090870 TMPRSS9 Nonsynonymous SNV R428C 0.001 0 0 0 1 0 0 0 0 0 0 0 21 187068 chr15 83240107 83240107 G T rs202165773 CPEB1 Nonsynonymous SNV S47R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26 187069 chr19 2769000 2769000 C G rs144833700 SGTA Nonsynonymous SNV G23R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.01 187070 chr19 2834016 2834016 C T rs752322156 ZNF554 Synonymous SNV N261N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.664 187071 chr15 84506964 84506964 A G rs112527144 ADAMTSL3 Nonsynonymous SNV K242E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.5 187072 chr8 143809091 143809091 C T THEM6 Synonymous SNV R109R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.75 187073 chr19 30498452 30498452 A G rs35808349 URI1 Nonsynonymous SNV D180G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.261 187074 chr17 65942083 65942083 G A rs782257625 BPTF Nonsynonymous SNV R2420H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 187075 chr15 85400146 85400146 A G rs78778733 ALPK3 Nonsynonymous SNV Q726R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.217 187076 chr15 85400400 85400400 G A rs35633849 ALPK3 Nonsynonymous SNV E811K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 7.405 187077 chr15 85448796 85448796 A T rs8187755 SLC28A1 Synonymous SNV G210G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.353 187078 chr15 85504771 85504771 T C rs148706126 SLC28A1 Synonymous SNV A532A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 3.772 187079 chr15 86312670 86312670 G A rs35444061 KLHL25 Synonymous SNV G124G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.493 187080 chr12 54109095 54109095 C A rs138639329 CALCOCO1 Nonsynonymous SNV K340N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 34 187081 chr12 54383093 54383093 C T rs776711894 HOXC10 Nonsynonymous SNV R298C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 187082 chr1 31426759 31426759 G A rs750465396 PUM1 Nonsynonymous SNV A798V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 187083 chr1 32044823 32044823 G C rs375784700 TINAGL1 Nonsynonymous SNV R5P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 187084 chr2 15555673 15555673 T C NBAS Synonymous SNV P978P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.753 187085 chr8 145107940 145107940 G A rs186192116 OPLAH Synonymous SNV D988D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.628 187086 chr2 159517707 159517707 T G rs16843186 PKP4-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.776 187087 chr19 2227078 2227078 T A DOT1L Nonsynonymous SNV S1520T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 187088 chr1 3410604 3410604 C T rs567237600 MEGF6 Nonsynonymous SNV R1405Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.776 187089 chr2 165793919 165793919 A C rs150244613 SLC38A11 Synonymous SNV G64G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 187090 chr7 1589819 1589819 G A rs566323218 TMEM184A Synonymous SNV Y164Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.294 187091 chr1 38155349 38155349 A G rs377067694 C1orf109 Synonymous SNV D130D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 187092 chr2 167304142 167304142 G C rs149496884 SCN7A Nonsynonymous SNV A456G 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 13.47 187093 chr19 37975607 37975607 T C rs142419003 ZNF570 Synonymous SNV N319N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.069 187094 chr9 712567 712567 G A rs115020236 KANK1 Nonsynonymous SNV E443K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 25.5 187095 chr7 4008893 4008893 C T rs199858648 SDK1 Synonymous SNV N517N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.331 187096 chr1 39920622 39920622 G T MACF1 Synonymous SNV T4917T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 187097 chr16 11375030 11375030 A C rs777305066 PRM1 Nonsynonymous SNV S22R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.314 187098 chr19 3425107 3425107 C A rs145828739 NFIC Nonsynonymous SNV A189E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 15.3 187099 chr1 41461648 41461648 A G rs201842917 CTPS1 Synonymous SNV Q104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 187100 chr7 5530987 5530987 G A rs200944793 FBXL18 Synonymous SNV S625S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 187101 chr1 41474504 41474504 C T rs201824063 CTPS1 Synonymous SNV G340G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.2 187102 chr12 66707936 66707936 T C rs149680578 HELB Synonymous SNV I617I 0.006 0.005 0.003 3 7 2 0.008 1 0 0 0 0 12.33 187103 chr9 14808058 14808058 C T rs78961274 FREM1 Nonsynonymous SNV V990M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 187104 chr17 75488768 75488768 G A rs80015943 SEPTIN9 Synonymous SNV S370S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.69 187105 chr2 179447858 179447858 G A rs397517662 TTN Nonsynonymous SNV P12826L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 187106 chr2 179463985 179463985 C T rs529480368 TTN Synonymous SNV T9780T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.95 187107 chr2 179466793 179466793 A C rs776899398 TTN Nonsynonymous SNV I9337S 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 21.6 187108 chr12 7052993 7052993 - G RNU7-1 0 0 0 1 0 0 0.003 0 0 0 0 0 187109 chr2 179643601 179643601 C G rs531590921 TTN Nonsynonymous SNV R1357T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.11 187110 chr17 76456301 76456301 C A rs143352762 DNAH17 Synonymous SNV L3126L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 187111 chr19 40364305 40364305 G A rs139920829 FCGBP Synonymous SNV F4779F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.019 187112 chr12 72666650 72666650 A T rs143894773 TRHDE Nonsynonymous SNV E31V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.2 187113 chr19 37101582 37101582 G A rs750087973 ZNF382 Nonsynonymous SNV R56H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 187114 chr19 40424082 40424082 G A rs148793073 FCGBP Synonymous SNV V707V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.328 187115 chr19 40520189 40520189 - A rs767668374 ZNF546 Frameshift insertion F312Yfs*2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 187116 chr19 40540355 40540355 T C rs201793012 ZNF780B Nonsynonymous SNV Q804R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 187117 chr7 21781672 21781672 C T DNAH11 Nonsynonymous SNV T2681I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 187118 chr1 46743758 46743758 G A RAD54L Nonsynonymous SNV R503H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 187119 chr19 55176584 55176584 G T rs143646063 LILRB4 Nonsynonymous SNV G266V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 187120 chr16 19127294 19127294 C G ITPRIPL2 Nonsynonymous SNV P504R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 187121 chr19 55525620 55525620 C T GP6 Nonsynonymous SNV A565T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 187122 chr9 37521630 37521630 G A rs377191726 FBXO10 Synonymous SNV D712D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 187123 chr19 38573267 38573267 G C rs146812141 SIPA1L3 Nonsynonymous SNV E354D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 187124 chr19 55591102 55591102 C T rs1056338694 EPS8L1 Synonymous SNV T54T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 187125 chr19 42506500 42506500 C G rs782637760 GRIK5 Nonsynonymous SNV V905L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.713 187126 chr19 42583062 42583062 A C rs140352236 ZNF574 Nonsynonymous SNV M192L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 10.3 187127 chr1 53736959 53736959 T C rs143464327 LRP8 Nonsynonymous SNV I186V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.792 187128 chr19 39663676 39663676 C T rs114116556 PAK4 Nonsynonymous SNV P108L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 187129 chr19 39666006 39666006 G A rs116665223 PAK4 Synonymous SNV S276S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.91 187130 chr19 39787173 39787173 A C rs145700659 IFNL1 Synonymous SNV R38R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 187131 chr19 55995516 55995516 C G rs779766744 ZNF628 Nonsynonymous SNV L986V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.03 187132 chr17 79205864 79205864 G A rs199942965 LOC105371925 0.001 0 0 0 1 0 0 0 0 0 0 0 9.936 187133 chr16 2304058 2304058 G C rs17135851 RNPS1 Nonsynonymous SNV A205G 0.009 0.005 0.02 0 11 2 0 6 0 0 0 0 8.131 187134 chr9 78907151 78907151 G A rs118069479 PCSK5 Nonsynonymous SNV D1049N 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 17.34 187135 chr17 37687513 37687513 C T rs369372744 CDK12 Nonsynonymous SNV R1464W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 187136 chr19 40903316 40903316 G A rs763185527 PRX Nonsynonymous SNV R315W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.8 187137 chr1 5950957 5950957 G A rs749757832 NPHP4 Nonsynonymous SNV L247F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 187138 chr9 91949576 91949576 A T rs148438115 SECISBP2 Synonymous SNV P339P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.428 187139 chr13 100622670 100622670 - GGC ZIC5 P424_A425insP 0 0.005 0 2 0 2 0.005 0 0 0 0 0 187140 chr16 29808226 29808226 G A KIF22 Nonsynonymous SNV C28Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.5 187141 chr16 2987129 2987129 C G FLYWCH1 Synonymous SNV P507P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.126 187142 chr2 209358272 209358272 A G rs372032169 PTH2R Nonsynonymous SNV K403R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.281 187143 chr13 103389359 103389359 T C CCDC168 Nonsynonymous SNV E4563G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.405 187144 chr2 21360910 21360910 C T rs140081299 TDRD15 Nonsynonymous SNV R191C 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 23.2 187145 chr19 42797387 42797387 C A rs747055103 CIC Nonsynonymous SNV P1250H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.56 187146 chr2 215674261 215674261 C A rs143914387 BARD1 Nonsynonymous SNV Q11H 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 16.17 187147 chr19 4357363 4357363 G A rs376188009 MPND Synonymous SNV Q320Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.31 187148 chr2 216986844 216986844 G A rs61752200 XRCC5 Nonsynonymous SNV R184H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.126 187149 chr7 48266976 48266976 G A rs776831778 ABCA13 Nonsynonymous SNV E196K 0.003 0 0 0 4 0 0 0 0 0 0 0 14.99 187150 chr19 44030450 44030450 G A rs199827754 ETHE1 Nonsynonymous SNV S82F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 26.3 187151 chr2 218925608 218925608 C T rs114651961 CXCR2P1 0 0 0.044 0 0 0 0 13 0 0 0 0 6.246 187152 chr1 68914369 68914369 C G RPE65 Nonsynonymous SNV G11A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 187153 chr2 219689026 219689026 C T rs149333214 PRKAG3 Synonymous SNV R424R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 187154 chr7 51150830 51150830 C T rs200114771 COBL Nonsynonymous SNV D398N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.479 187155 chr2 219920172 219920172 C T rs199782343 IHH Synonymous SNV P331P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.41 187156 chr13 113777226 113777226 G A rs370154986 F10 Synonymous SNV L19L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.311 187157 chr9 107521563 107521563 C T rs148156543 NIPSNAP3A Synonymous SNV L180L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 187158 chr9 107554274 107554274 A G rs34078184 ABCA1 Synonymous SNV Y1921Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 5.221 187159 chr9 107593983 107593983 G A rs9282539 ABCA1 Synonymous SNV S545S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.404 187160 chr13 114324024 114324024 T C rs116539667 GRK1 Nonsynonymous SNV I241T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 187161 chr1 84944975 84944975 C T rs145776320 RPF1 Nonsynonymous SNV A4V 0.004 0 0.01 0 5 0 0 3 0 0 0 0 14.3 187162 chr1 866421 866421 T A rs138703951 SAMD11 Nonsynonymous SNV V86D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 187163 chr19 49658483 49658483 A G rs766928704 HRC Synonymous SNV H4H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.097 187164 chr2 233684544 233684544 C T rs748538823 GIGYF2 Nonsynonymous SNV A787V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely pathogenic 23.7 187165 chr16 56976109 56976109 C T rs768968429 HERPUD1 Nonsynonymous SNV P323L 0.003 0 0 0 3 0 0 0 0 0 0 0 17.52 187166 chr19 501801 501801 A C rs76476234 MADCAM1 Nonsynonymous SNV K267T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 187167 chr19 501802 501802 G C rs75905809 MADCAM1 Nonsynonymous SNV K267N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 187168 chr16 57089417 57089417 C T rs199738641 NLRC5 Synonymous SNV D1244D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.138 187169 chr7 91794394 91794394 G A rs913120421 LRRD1 Synonymous SNV N41N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.918 187170 chr19 8654127 8654127 G C rs150468696 ADAMTS10 Synonymous SNV A206A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 0.006 187171 chr16 57719692 57719692 C T rs17855907 ADGRG3 Nonsynonymous SNV A345V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.99 187172 chr18 43467737 43467737 T C EPG5 Synonymous SNV S1696S 0.003 0 0 3 4 0 0.008 0 0 0 0 0 9.751 187173 chr7 94292673 94292675 AAG - rs796788941 PEG10 R13del 0.001 0 0 0 1 0 0 0 0 0 0 0 187174 chr18 44157747 44157747 G A rs375920647 LOXHD1 Synonymous SNV S631S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.352 187175 chr18 46623883 46623883 C G rs60818038 DYM Synonymous SNV V522V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 13.09 187176 chr16 58550395 58550395 C T rs755451950 SETD6 Nonsynonymous SNV R164C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 187177 chr13 43148519 43148519 A G rs200788562 TNFSF11 Nonsynonymous SNV E27G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 24.4 187178 chr1 9416187 9416187 G A rs753185303 SPSB1 Synonymous SNV P79P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.17 187179 chr16 66998390 66998390 G A rs145544825 CES3 Nonsynonymous SNV G231S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 25.1 187180 chr16 67180978 67180978 A T rs145580230 C16orf70 Nonsynonymous SNV T377S 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 23.7 187181 chr2 241075708 241075708 G A COPS9 Synonymous SNV G19G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.844 187182 chr16 68387410 68387410 C T rs147358081 PRMT7 Nonsynonymous SNV R481W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 187183 chr13 58208270 58208270 G C rs151242806 PCDH17 Synonymous SNV T530T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.292 187184 chr13 60453513 60453513 G A DIAPH3 Synonymous SNV D556D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.107 187185 chr16 70572276 70572276 C G SF3B3 Synonymous SNV T292T 0.003 0 0 0 3 0 0 0 0 0 0 0 14.38 187186 chr9 132630457 132630457 G A rs61760212 USP20 Synonymous SNV S288S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.6 187187 chr20 16348108 16348108 G A rs267605847 KIF16B Stop gain R1288X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 187188 chr13 95243123 95243123 G A rs61741685 TGDS Synonymous SNV A67A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 14.03 187189 chr19 50374863 50374863 C A rs574163502 AKT1S1 Nonsynonymous SNV V190F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 25.4 187190 chr20 18297298 18297298 G A rs753937528 ZNF133 Synonymous SNV T582T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.348 187191 chr19 9089444 9089444 G A rs765455565 MUC16 Nonsynonymous SNV P791S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 187192 chr19 50789942 50789942 C T MYH14 Synonymous SNV V1540V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.58 187193 chr13 99040681 99040681 G C FARP1 Nonsynonymous SNV K268N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 187194 chr20 18506516 18506516 G C SEC23B Nonsynonymous SNV Q258H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 187195 chr2 27534777 27534777 G A rs745609578 MPV17 Nonsynonymous SNV L151F 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Uncertain significance 24.9 187196 chr16 74908316 74908316 G A rs760782448 WDR59 Nonsynonymous SNV R906W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 187197 chr19 50964951 50964951 C T rs772121872 MYBPC2 Synonymous SNV L1028L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.217 187198 chr17 60766298 60766298 G T MRC2 Nonsynonymous SNV G1104V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 187199 chr19 53854351 53854351 A G rs61743334 ZNF845 Synonymous SNV G141G 0.003 0 0 0 4 0 0 0 0 0 0 0 0.859 187200 chr2 37129819 37129819 A G rs139842278 STRN Synonymous SNV F189F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.675 187201 chr14 105420089 105420089 C T rs371308315 AHNAK2 Nonsynonymous SNV E467K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 187202 chr2 42557056 42557056 C T rs34697961 EML4 Synonymous SNV P827P 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 17.45 187203 chr9 139699752 139699752 C T rs1047687522 CCDC183-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.566 187204 chr19 52659592 52659592 G A ZNF836 Synonymous SNV D448D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.309 187205 chr2 44170849 44170849 T C rs115993634 LRPPRC Synonymous SNV P827P 0.003 0.016 0.003 3 4 6 0.008 1 0 0 0 0 Benign 6.563 187206 chr2 45233463 45233463 G A rs147806994 SIX2 Nonsynonymous SNV P241L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 187207 chr20 33500914 33500914 A C ACSS2 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.29 187208 chr1 11301677 11301677 C A MTOR Nonsynonymous SNV A492S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 187209 chr2 54756653 54756653 G A rs61743072 RPL23AP32 0 0 0.007 0 0 0 0 2 0 0 0 0 5.497 187210 chr2 54856888 54856888 A G rs148657379 SPTBN1 Nonsynonymous SNV N860D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 187211 chr2 55276952 55276952 G C rs977028125 RTN4 Nonsynonymous SNV P162R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 187212 chr2 56420070 56420070 C T rs370459764 CCDC85A Synonymous SNV S245S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.505 187213 chr16 88502193 88502193 G T ZNF469 Nonsynonymous SNV S2772I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.45 187214 chr1 117626760 117626760 A G rs144713709 TTF2 Nonsynonymous SNV H675R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 187215 chr10 5788518 5788518 C T rs905058542 TASOR2 Nonsynonymous SNV A964V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 187216 chr17 72860452 72860452 T C rs760182097 FDXR Nonsynonymous SNV K234E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 187217 chr17 72927219 72927220 TC - rs760641643 OTOP2 L498Vfs*165 0.001 0 0 0 1 0 0 0 0 0 0 0 187218 chr19 11979197 11979197 A G rs767693154 ZNF439 Nonsynonymous SNV Y302C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 187219 chr10 7412303 7412303 G A rs148453164 SFMBT2 Synonymous SNV N45N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.925 187220 chr14 23282190 23282190 C G rs386833815 SLC7A7 Nonsynonymous SNV A140P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely pathogenic 28.6 187221 chr2 73315440 73315440 C A RAB11FIP5 Nonsynonymous SNV V436F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 187222 chr10 11505249 11505249 C A rs996023615 USP6NL Nonsynonymous SNV D577Y 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.6 187223 chr2 74531694 74531694 G C SLC4A5 Nonsynonymous SNV Q65E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 187224 chr7 138432249 138432249 T C rs550454551 ATP6V0A4 Nonsynonymous SNV H414R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 187225 chr1 12368543 12368543 C T rs375096307 VPS13D Synonymous SNV I2165I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.46 187226 chr2 74746856 74746856 A T DQX1 Nonsynonymous SNV W545R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 187227 chr2 84686301 84686301 G A SUCLG1 Synonymous SNV F31F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 187228 chr2 85012817 85012817 T C DNAH6 Synonymous SNV N3679N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.037 187229 chr17 73723554 73723554 G A rs557836108 ITGB4 Nonsynonymous SNV V78M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.358 187230 chr2 85780618 85780618 T A GGCX Nonsynonymous SNV M241L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 187231 chr19 57888718 57888718 A C ZNF547 Nonsynonymous SNV Q125P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.955 187232 chr14 24617542 24617542 G A rs45466595 RNF31 Nonsynonymous SNV E139K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.711 187233 chr2 86292453 86292453 C T rs200363968 POLR1A Nonsynonymous SNV V668M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 187234 chr1 145440098 145440098 G T TXNIP Nonsynonymous SNV V123L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 187235 chr1 145584574 145584574 A G PIAS3 Nonsynonymous SNV H514R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.62 187236 chr2 96810527 96810527 G A rs151080230 DUSP2 Synonymous SNV S161S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 10.23 187237 chr17 74078039 74078039 C T rs371765385 ZACN Synonymous SNV A319A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 187238 chr2 97338835 97338835 T C FER1L5 Nonsynonymous SNV Y505H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.207 187239 chr20 4850575 4850575 G C rs753268935 SLC23A2 Synonymous SNV P409P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.221 187240 chr20 48522326 48522326 G A rs576182546 SPATA2 Nonsynonymous SNV R465C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 187241 chr1 149882242 149882242 C T rs782223147 SV2A Synonymous SNV Q323Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 187242 chr14 32030706 32030706 - C NUBPL Frameshift insertion T22Hfs*22 0.001 0 0 1 1 0 0.003 0 0 0 0 0 187243 chr17 74288067 74288067 G A rs201037184 QRICH2 Nonsynonymous SNV P748L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 187244 chr20 50051821 50051821 G A rs773542213 NFATC2 Nonsynonymous SNV R626W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 187245 chr1 151107750 151107750 C T SEMA6C Nonsynonymous SNV R450Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 187246 chr3 101540386 101540386 A G NXPE3 Nonsynonymous SNV H354R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 187247 chr17 1628270 1628270 G C rs879770324 WDR81 Nonsynonymous SNV G6A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.612 187248 chr7 148904528 148904528 C T rs755165181 ZNF282 Synonymous SNV P266P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 187249 chr17 76060915 76060915 G A rs768300599 TNRC6C Synonymous SNV K833K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 187250 chr3 10916711 10916711 G A rs144481019 SLC6A11 Synonymous SNV T274T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.962 187251 chr10 32952992 32952992 T A rs78766756 CCDC7 Nonsynonymous SNV D675E 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 10.95 187252 chr17 76497816 76497816 G A rs112619893 DNAH17-AS1 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.66 187253 chr20 58569367 58569367 G A CDH26 Nonsynonymous SNV V497I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.374 187254 chr1 154918927 154918927 A G PBXIP1 Nonsynonymous SNV V253A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 20.1 187255 chr14 51224422 51224422 T C NIN Nonsynonymous SNV D1109G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.259 187256 chr7 150217612 150217612 G C rs755267224 GIMAP7 Nonsynonymous SNV E184Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 187257 chr3 113379302 113379302 A G rs375858899 USF3 Synonymous SNV V409V 0 0 0.007 0 0 0 0 2 0 0 0 0 3.832 187258 chr19 814487 814487 G A rs760529206 PLPPR3 Nonsynonymous SNV P288S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 187259 chr1 155233051 155233051 C T rs373524272 CLK2 Synonymous SNV P258P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.94 187260 chr3 118381303 118381303 C A rs34542027 LOC105374060 0 0 0.027 0 0 0 0 8 0 0 0 0 4.982 187261 chr20 60791953 60791953 C T rs748667634 HRH3 Synonymous SNV T149T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 187262 chr19 58989048 58989048 G A ZNF446 Synonymous SNV Q129Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.142 187263 chr10 48414092 48414092 T C rs140271276 GDF2 Nonsynonymous SNV N259S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 23.8 187264 chr17 78313917 78313917 C - RNF213 T1917Sfs*86 0.001 0 0 1 1 0 0.003 0 0 0 0 0 187265 chr3 121516065 121516065 C T rs374034270 IQCB1 Nonsynonymous SNV R259H 0 0 0.007 0 0 0 0 2 0 0 0 0 19.85 187266 chr14 59104944 59104944 G A rs988140651 DACT1 Synonymous SNV T8T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 187267 chr17 79166284 79166284 G A rs147348755 CEP131 Nonsynonymous SNV R811W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 187268 chr17 79172722 79172722 G A rs142545284 CEP131 Synonymous SNV S414S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.56 187269 chr1 158368341 158368341 C T OR10T2 Nonsynonymous SNV G306R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 187270 chr17 79256117 79256117 G A rs141053452 SLC38A10 Nonsynonymous SNV R125C 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 34 187271 chr20 61959833 61959833 G A rs373532225 COL20A1 Nonsynonymous SNV R1255H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.238 187272 chr10 53458111 53458111 A C CSTF2T Nonsynonymous SNV I400R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 187273 chr19 9000466 9000466 G C rs747933209 MUC16 Synonymous SNV T13506T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.948 187274 chr19 7505099 7505099 G A rs11878742 ARHGEF18 Synonymous SNV L37L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 8.152 187275 chr19 7516137 7516137 A C rs150177497 ARHGEF18 Nonsynonymous SNV I372L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.025 187276 chr10 55587269 55587269 G A rs751189532 PCDH15 Synonymous SNV A1346A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.43 187277 chr19 7532411 7532411 C G rs568740656 ARHGEF18 Synonymous SNV A865A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.64 187278 chr17 79986289 79986289 G A rs201659216 LRRC45 Nonsynonymous SNV R381Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 187279 chr8 10465065 10465065 C T rs752506555 RP1L1 Synonymous SNV E2181E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.766 187280 chr17 80529614 80529614 G T rs117692271 FOXK2 Synonymous SNV P259P 0.003 0.005 0.01 2 3 2 0.005 3 0 0 0 0 Benign 5.277 187281 chr17 80543936 80543936 C T rs138822262 FOXK2 Nonsynonymous SNV A479V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Likely benign 31 187282 chr17 80696475 80696475 C T rs761857165 FN3K Synonymous SNV A84A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.15 187283 chr20 62729926 62729926 C G rs374624110 OPRL1 Nonsynonymous SNV T291S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.33 187284 chr20 62848601 62848601 C G MYT1 Nonsynonymous SNV Q605E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.3 187285 chr3 130380710 130380710 C T rs201325545 COL6A6 Synonymous SNV F2020F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 187286 chr14 75386651 75386651 C T rs759367848 RPS6KL1 Nonsynonymous SNV R96H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 187287 chr14 75516210 75516210 A T rs148409389 MLH3 Nonsynonymous SNV F50Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.35 187288 chr21 33346936 33346936 C T rs55976679 HUNK Synonymous SNV S360S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 20.7 187289 chr18 13671865 13671865 A T rs781651663 FAM210A Nonsynonymous SNV F194Y 0.002 0 0 0 2 0 0 0 0 0 0 0 9.997 187290 chr1 100544100 100544100 A G rs774929101 MFSD14A Synonymous SNV Q366Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.083 187291 chr21 39087303 39087303 T C rs200348437 KCNJ6 Nonsynonymous SNV I53V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 187292 chr1 171540465 171540465 C T rs374535798 PRRC2C Synonymous SNV L2218L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 15.52 187293 chr10 94821925 94821925 G T CYP26C1 Synonymous SNV A121A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.76 187294 chr14 93081771 93081771 G A rs145478507 RIN3 Synonymous SNV S54S 0 0.008 0 1 0 3 0.003 0 0 1 0 0 8.717 187295 chr3 152177086 152177086 G C rs752348434 MBNL1 Nonsynonymous SNV D342H 0 0 0.007 0 0 0 0 2 0 0 0 0 2.77 187296 chr18 33573171 33573171 A G rs201321239 RPRD1A Synonymous SNV N294N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 187297 chr14 94401051 94401051 G A rs141712527 ASB2 Nonsynonymous SNV P572L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 187298 chr3 158543842 158543842 C T rs745622550 MFSD1 Nonsynonymous SNV R404C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 187299 chr3 16261474 16261474 G A rs765858817 GALNT15 Nonsynonymous SNV G58S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 187300 chr14 95569975 95569975 T C DICER1 Nonsynonymous SNV D1253G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 187301 chr14 95570308 95570308 G C DICER1 Nonsynonymous SNV S1142C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.73 187302 chr8 30705562 30705562 T C rs748560357 TEX15 Synonymous SNV L707L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.063 187303 chr14 99929893 99929893 G A rs142542243 SETD3 Synonymous SNV G42G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.862 187304 chr8 36793375 36793375 T C rs200026341 KCNU1 Synonymous SNV N1129N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.017 187305 chr18 47803541 47803541 C T rs1000774267 MBD1 Synonymous SNV E48E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.18 187306 chr10 100503723 100503723 T G HPSE2 Nonsynonymous SNV N234T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 187307 chr8 43046725 43046725 C T rs201346206 HGSNAT Nonsynonymous SNV P349S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 187308 chr18 55027373 55027373 C T ST8SIA3 Synonymous SNV Y336Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.915 187309 chr18 56203299 56203299 G A ALPK2 Stop gain Q1374X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 187310 chr10 103991825 103991825 G A rs370385515 PITX3 Synonymous SNV L5L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.19 187311 chr1 11087618 11087618 A G rs767238206 MASP2 Nonsynonymous SNV I462T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 187312 chr10 105128031 105128031 G A rs199846176 TAF5 Synonymous SNV Q95Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.8 187313 chr3 184966300 184966302 GTC - rs781558131 EHHADH T27del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 187314 chr22 18379616 18379616 G A rs775096851 MICAL3 Synonymous SNV H360H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.607 187315 chr8 73921171 73921171 A G rs377699337 TERF1 Nonsynonymous SNV D17G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 187316 chr22 19511132 19511134 TTC - rs544126681 CLDN5 K300del 0.001 0 0 0 1 0 0 0 0 0 0 0 187317 chr1 1309629 1309629 - A AURKAIP1 Frameshift insertion L84Pfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 187318 chr3 189590736 189590736 C T rs558374141 TP63 Nonsynonymous SNV T255M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.8 187319 chr18 64172504 64172504 T C rs775763894 CDH19 Nonsynonymous SNV R622G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 187320 chr8 101225528 101225528 C T rs761617724 SPAG1 Nonsynonymous SNV P436L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.99 187321 chr1 11856398 11856400 CTT - rs746353274 MTHFR K256del 0.001 0 0 0 1 0 0 0 0 0 0 0 187322 chr15 42147621 42147621 T C rs373442321 SPTBN5 Nonsynonymous SNV K3075R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 187323 chr18 77960678 77960678 G A PARD6G Synonymous SNV D70D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 187324 chr10 124712377 124712377 C T rs141733396 C10orf88 Synonymous SNV R112R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.81 187325 chr3 32933249 32933249 C T rs371940942 TRIM71 Synonymous SNV P851P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.379 187326 chr1 152975856 152975856 A G rs369370986 SPRR3 Synonymous SNV Q120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 187327 chr10 125521390 125521390 C G rs142483883 CPXM2 Nonsynonymous SNV G592A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 187328 chr22 29446440 29446440 C T rs773059208 ZNRF3 Synonymous SNV G757G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.018 187329 chr15 44149233 44149233 T A rs373458496 WDR76 Nonsynonymous SNV N363K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.338 187330 chr1 154316964 154316964 G A rs769777681 ATP8B2 Nonsynonymous SNV R729Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29 187331 chr10 133961521 133961521 C T rs756808828 JAKMIP3 Synonymous SNV N531N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 187332 chr3 40433841 40433841 T C rs571011520 ENTPD3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.355 187333 chr3 424371 424371 A G rs138696668 CHL1-AS1 0.006 0.008 0.01 1 7 3 0.003 3 0 0 0 0 5.307 187334 chr15 51350306 51350306 G A rs201353895 TNFAIP8L3 Synonymous SNV F129F 0 0 0 1 0 0 0.003 0 0 0 0 0 2.229 187335 chr19 11303779 11303779 C T rs370098562 KANK2 Nonsynonymous SNV R326H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.63 187336 chr17 56389364 56389364 G A rs138562714 TSPOAP1 Nonsynonymous SNV P880S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.51 187337 chr22 37524640 37524640 G A rs146986731 IL2RB Synonymous SNV Y384Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.055 187338 chr15 57734674 57734674 C G rs776486564 CGNL1 Nonsynonymous SNV Q601E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.56 187339 chr17 58508550 58508550 A G rs777790196 C17orf64 Nonsynonymous SNV R212G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.62 187340 chr8 141294025 141294025 C T rs147044768 TRAPPC9 Nonsynonymous SNV A684T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.7 187341 chr3 46307332 46307332 G A CCR3 Nonsynonymous SNV R228K 0 0 0.007 0 0 0 0 2 0 0 0 0 11.85 187342 chr19 12903305 12903305 G A rs755792301 JUNB Synonymous SNV K240K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 187343 chr8 141542676 141542676 G A rs751186251 AGO2 Synonymous SNV D736D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.4 187344 chr8 142151355 142151355 C T rs149744221 DENND3 Nonsynonymous SNV S184L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.964 187345 chr22 38151567 38151567 C T rs140528529 TRIOBP Nonsynonymous SNV A150V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 27.3 187346 chr1 15833507 15833507 G A rs372045782 CASP9 Nonsynonymous SNV R173C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 187347 chr17 60673946 60673946 G A rs374257770 TLK2 Synonymous SNV K455K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 187348 chr1 2117557 2117557 G A rs547643542 FAAP20 Stop gain R32X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.786 187349 chr17 61712084 61712084 A G rs138850035 MAP3K3 Nonsynonymous SNV S48G 0.003 0 0 0 3 0 0 0 0 0 0 0 16.46 187350 chr17 61781672 61781672 G A rs747631744 STRADA Nonsynonymous SNV R340W 0.001 0 0 0 1 0 0 0 0 0 0 0 2.345 187351 chr17 61907825 61907825 T C rs370586480 PSMC5 Synonymous SNV P164P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.126 187352 chr15 65369895 65369895 C A rs200549195 KBTBD13 Nonsynonymous SNV R248S 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 29 187353 chr1 213436154 213436154 C G rs367780807 RPS6KC1 Nonsynonymous SNV Q564E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 187354 chr15 65578633 65578633 - GGGAAGGGCCGCA PARP16 Frameshift insertion S46Afs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 187355 chr22 42956211 42956211 C T rs142867325 SERHL2 Nonsynonymous SNV H121Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.931 187356 chr1 155172630 155172630 G A rs755985355 THBS3 Synonymous SNV N190N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.498 187357 chr22 43539354 43539354 T A MCAT Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 187358 chr8 144644426 144644426 A G GSDMD Synonymous SNV P348P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 187359 chr1 215824093 215824093 G A rs200934092 USH2A Synonymous SNV C4728C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.802 187360 chr3 52623119 52623119 C T rs375687372 PBRM1 Nonsynonymous SNV V978I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 187361 chr1 220273956 220273956 C G rs141275528 IARS2 Nonsynonymous SNV A172G 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 187362 chr3 53757924 53757924 G A rs146747080 CACNA1D Synonymous SNV L666L 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.25 187363 chr3 56052940 56052940 C T rs200532916 ERC2 Synonymous SNV E587E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.426 187364 chr19 17014389 17014389 G A rs756523203 CPAMD8 Synonymous SNV D1484D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 187365 chr8 144994510 144994510 C T rs782280714 PLEC Nonsynonymous SNV R3146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 187366 chr22 46780446 46780446 C T rs140996267 CELSR1 Nonsynonymous SNV E2293K 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 1.182 187367 chr3 62357981 62357981 C T rs199850439 FEZF2 Nonsynonymous SNV G188D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 187368 chr22 50438323 50438323 G A rs986693804 IL17REL Synonymous SNV S136S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.831 187369 chr8 145741888 145741888 G C rs35639991 RECQL4 Synonymous SNV P205P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.159 187370 chr19 17547623 17547623 G A rs764839975 TMEM221 Nonsynonymous SNV R174W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 187371 chr15 81221423 81221423 C T rs76271429 CEMIP Synonymous SNV G840G 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 17.29 187372 chr19 17566521 17566521 C T rs560093365 NXNL1 Nonsynonymous SNV A192T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 187373 chr19 17679465 17679465 G A COLGALT1 Nonsynonymous SNV D258N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 187374 chr9 4564405 4564405 G A SLC1A1 Synonymous SNV R129R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.959 187375 chr11 1093478 1093513 CCACGGTACTCATCACCACCACCACTACGATGACCC - rs755501540 MUC2 V1768_T1779del 0 0.003 0 0 0 1 0 0 0 0 0 0 187376 chr11 1093518 1093550 CCCAACACCCACCAGCACAAAGAGTACAACCGT - MUC2 P1780_V1790del 0 0.003 0 0 0 1 0 0 0 0 0 0 187377 chr11 1093554 1093622 ACCCATCACCACCACAACTACGGTGACCGCAACCCCAACACCCACCGGCACACAGACCCCAACCATGAT - MUC2 T1794_I1816del 0 0.003 0 0 0 1 0 0 0 0 0 0 187378 chr9 12821481 12821481 A G rs141879147 LURAP1L Nonsynonymous SNV T137A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.884 187379 chr1 173628410 173628410 C T rs775112392 ANKRD45 Nonsynonymous SNV G50S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 187380 chr4 100572368 100572368 T C rs900525768 C4orf54 Synonymous SNV G1146G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 187381 chr2 107459651 107459651 C G rs761220192 ST6GAL2 Synonymous SNV V261V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.531 187382 chr1 232574913 232574913 G A rs758251558 SIPA1L2 Synonymous SNV S1324S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.98 187383 chr1 165378839 165378839 G A rs772263875 RXRG Synonymous SNV H211H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 187384 chr1 165667770 165667770 G C rs200210709 ALDH9A1 Nonsynonymous SNV A9G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.314 187385 chr9 27169603 27169603 G A TEK Nonsynonymous SNV A98T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 187386 chr11 2923883 2923883 T C rs957116868 SLC22A18 Nonsynonymous SNV S20P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.456 187387 chr9 35074372 35074372 G C FANCG Nonsynonymous SNV L586V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 187388 chr9 35699415 35699415 C T rs774185391 TLN1 Nonsynonymous SNV G2271E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 187389 chr19 2934519 2934519 G A rs10423550 ZNF77 Synonymous SNV Y202Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.918 187390 chr2 121107068 121107068 G A rs560571608 INHBB Nonsynonymous SNV R281Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 187391 chr19 33304628 33304628 G C rs770760991 TDRD12 Nonsynonymous SNV L1029F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 187392 chr2 128408546 128408546 G A rs560171965 GPR17 Synonymous SNV S79S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.304 187393 chr19 33698454 33698454 C T rs150965907 LRP3 Synonymous SNV S762S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 14.32 187394 chr19 33702389 33702389 C T rs143274786 SLC7A10 Synonymous SNV T281T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 14.56 187395 chr19 3496723 3496723 C T rs745823611 DOHH Synonymous SNV T30T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 187396 chr1 179041056 179041056 T C rs755384540 FAM20B Nonsynonymous SNV V336A 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.47 187397 chr16 14234490 14234490 C T rs140275336 MRTFB Synonymous SNV T9T 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 8.736 187398 chr4 148944560 148944560 A C rs61758693 ARHGAP10 Nonsynonymous SNV E621D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 187399 chr16 15842009 15842009 G A rs148893135 MYH11 Nonsynonymous SNV A692V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 187400 chr9 79634820 79634820 G T FOXB2 Nonsynonymous SNV G84C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 187401 chr2 136575222 136575222 C A rs377102890 LCT Nonsynonymous SNV G466W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.31 187402 chr4 153457837 153457837 C T rs1007026076 MIR4453HG 0 0 0.007 0 0 0 0 2 0 0 0 0 13.14 187403 chr17 80129590 80129590 C T rs113064189 CCDC57 Synonymous SNV S131S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.9 187404 chr2 145157593 145157593 T C rs146673563 ZEB2 Synonymous SNV L363L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign/Likely benign 0.08 187405 chr4 155411742 155411742 G T rs1052365904 DCHS2 Synonymous SNV R256R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.89 187406 chr2 152350734 152350734 C T rs199937246 NEB Nonsynonymous SNV A6318T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 187407 chr19 37117567 37117567 T C rs371643629 ZNF382 Synonymous SNV S255S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.031 187408 chr1 183546807 183546807 A G rs754041676 NCF2 Nonsynonymous SNV L98S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 187409 chr2 152543997 152543997 G A rs372217127 NEB Nonsynonymous SNV A858V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 187410 chr9 100223044 100223044 C T TDRD7 Synonymous SNV I406I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.24 187411 chr2 158115754 158115754 G A rs148659459 GALNT5 Nonsynonymous SNV G387E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.031 187412 chr19 38230534 38230534 C T rs35405939 ZNF573 Nonsynonymous SNV R198H 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.63 187413 chr16 2234859 2234859 C T rs371566185 CASKIN1 Synonymous SNV R445R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 187414 chr2 165984284 165984284 C T rs140990288 SCN3A Nonsynonymous SNV V1035I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 5.656 187415 chr4 1838204 1838204 C T rs772579122 LETM1 Synonymous SNV K230K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 187416 chr1 200956224 200956224 C T rs762552831 KIF21B Nonsynonymous SNV V1172I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 187417 chr1 201027607 201027607 C T rs775845281 CACNA1S Nonsynonymous SNV D1180N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 34 187418 chr2 169791823 169791823 T C rs199940188 ABCB11 Nonsynonymous SNV Q976R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.288 187419 chr4 187088170 187088170 G A rs141044925 FAM149A Nonsynonymous SNV G405S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.038 187420 chr4 187088346 187088346 G A rs150961217 FAM149A Synonymous SNV T435T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.101 187421 chr18 3151781 3151781 C T MYOM1 Nonsynonymous SNV R585Q 0.007 0.003 0 0 8 1 0 0 0 0 0 0 35 187422 chr2 170531550 170531550 C A rs988846376 CCDC173 Nonsynonymous SNV G99W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 187423 chr4 187208968 187208968 C T rs5975 F11 Synonymous SNV D569D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.3 187424 chr1 201331069 201331069 T C rs886045828 TNNT2 Nonsynonymous SNV I215V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.5 187425 chr1 201358354 201358354 G A rs142674779 LAD1 Nonsynonymous SNV S39F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 187426 chr2 173832080 173832080 G A rs199555232 RAPGEF4 Synonymous SNV E84E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 187427 chr2 178576502 178576502 T C PDE11A Synonymous SNV Q272Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.886 187428 chr19 42794764 42794764 C T CIC Nonsynonymous SNV S615L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 187429 chr4 2934080 2934080 G A rs752294519 MFSD10 Nonsynonymous SNV R231W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 187430 chr1 220101497 220101497 T C SLC30A10 Nonsynonymous SNV I96V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 187431 chr4 2952105 2952105 C A rs150784391 NOP14-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 7.995 187432 chr9 123476258 123476258 G A rs575360512 MEGF9 Nonsynonymous SNV P127S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.192 187433 chr9 123580224 123580224 A C PSMD5 Nonsynonymous SNV V449G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 187434 chr11 12316344 12316344 - CTCCTCCTCCTCCTCCTC MICALCL P470_T471insPPPPPP 0.002 0.005 0 4 2 2 0.01 0 0 0 0 2 187435 chr1 223567615 223567615 T A rs144076109 CCDC185 Synonymous SNV R266R 0.005 0.01 0.007 0 6 4 0 2 0 0 0 0 0.074 187436 chr16 334685 334685 G A rs200919010 PDIA2 Nonsynonymous SNV E145K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.473 187437 chr11 17388872 17388872 T C NCR3LG1 Synonymous SNV T246T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.309 187438 chr1 209803976 209803976 G A rs141059189 LAMB3 Synonymous SNV D309D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.21 187439 chr4 420693 420693 A G rs148436372 ABCA11P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.453 187440 chr11 18566238 18566238 G A rs199750985 UEVLD Nonsynonymous SNV T174I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 187441 chr9 128112613 128112613 G A rs371619035 GAPVD1 Synonymous SNV A1086A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 187442 chr9 130471809 130471809 G C rs535672656 CFAP157 Synonymous SNV T90T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 187443 chr11 20623099 20623099 G T SLC6A5 Nonsynonymous SNV R143L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 187444 chr11 32636158 32636158 A G CCDC73 Nonsynonymous SNV V569A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 187445 chr1 22167743 22167743 C T rs530638947 HSPG2 Nonsynonymous SNV V3123M 0.001 0 0 0 1 0 0 0 0 0 0 0 29 187446 chr16 57707345 57707345 G A rs143343064 ADGRG3 Synonymous SNV S57S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.142 187447 chr19 45593439 45593439 - GTGGCTTTGT GEMIN7 Frameshift insertion A26Vfs*6 0.003 0 0 0 3 0 0 0 0 0 0 0 187448 chr1 54704802 54704802 G A rs533940033 SSBP3 Synonymous SNV N282N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.784 187449 chr1 22965355 22965355 G A C1QA Nonsynonymous SNV G65S 0.001 0 0 0 1 0 0 0 0 0 0 0 29 187450 chr4 678562 678562 G A rs375766926 SLC49A3 Synonymous SNV P104P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.598 187451 chr11 43465012 43465012 A G rs146876466 TTC17 Nonsynonymous SNV M797V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.079 187452 chr9 133932380 133932380 C G rs781719244 LAMC3 Synonymous SNV S668S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.07 187453 chr4 70615488 70615488 T C rs57806190 SULT1B1 Nonsynonymous SNV H109R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.3 187454 chr2 207820219 207820219 G A CPO Synonymous SNV K66K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.219 187455 chr1 60370682 60370682 G A rs148429756 CYP2J2 Nonsynonymous SNV P351L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 187456 chr19 47856688 47856688 G T rs775183244 DHX34 Nonsynonymous SNV R134L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 187457 chr19 47883105 47883105 C T rs142172787 DHX34 Nonsynonymous SNV R949C 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 21.5 187458 chr9 135739089 135739089 G A rs189867128 AK8 Nonsynonymous SNV T54M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.87 187459 chr16 68847350 68847350 C T rs61756284 CDH1 Synonymous SNV V424V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 12.47 187460 chr9 136328609 136328609 C T rs150907694 CACFD1 Synonymous SNV C42C 0.002 0 0.01 0 2 0 0 3 0 0 0 0 12.03 187461 chr1 23768748 23768748 C T rs148831305 ASAP3 Nonsynonymous SNV G192E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.8 187462 chr2 21239465 21239465 A G rs72653073 APOB Synonymous SNV L1060L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.364 187463 chr4 7774707 7774707 T C rs139795223 AFAP1 Nonsynonymous SNV K614R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.618 187464 chr2 215815807 215815807 C A rs145031776 ABCA12 Nonsynonymous SNV R1898S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 25.7 187465 chr4 81207759 81207759 T C rs758384061 FGF5 Nonsynonymous SNV I104T 0 0 0.007 0 0 0 0 2 0 0 0 0 8.635 187466 chr9 139234242 139234242 C T GPSM1 Synonymous SNV F351F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 187467 chr4 85538793 85538793 C T rs139700399 CDS1 Nonsynonymous SNV P140L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 27.4 187468 chr19 11408870 11408870 C A rs143650478 TSPAN16 Nonsynonymous SNV A41D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 187469 chr4 88537276 88537276 T C rs111216234 DSPP Synonymous SNV S1154S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.504 187470 chr4 88537279 88537279 C T rs111216224 DSPP Synonymous SNV D1155D 0 0 0.007 0 0 0 0 2 0 0 0 0 8.679 187471 chr9 140242629 140242629 C T rs754981932 EXD3 Nonsynonymous SNV R631H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 187472 chr11 55761734 55761734 T A rs140060499 OR5F1 Nonsynonymous SNV Y123F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 187473 chr4 90034833 90034833 A G TIGD2 Synonymous SNV A236A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.184 187474 chr9 140672443 140672443 G A rs398124403 EHMT1 Nonsynonymous SNV G679S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.65 187475 chr16 83251068 83251068 G A rs532575568 CDH13 Nonsynonymous SNV R162Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 19.64 187476 chr5 10683642 10683642 C T rs148041255 DAP Nonsynonymous SNV R65Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 26.1 187477 chr16 84495757 84495757 G A rs186518272 ATP2C2-AS1 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 1.625 187478 chr16 84872327 84872327 A G rs201061137 CRISPLD2 Nonsynonymous SNV N76D 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 24.2 187479 chr2 228162483 228162483 T G COL4A3 Nonsynonymous SNV I1220R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.157 187480 chr16 85695298 85695298 C T rs61737039 GSE1 Synonymous SNV F625F 0.007 0.003 0 1 8 1 0.003 0 0 0 0 0 11.26 187481 chr5 118484868 118484868 T G DMXL1 Nonsynonymous SNV L1116V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.9 187482 chr1 249144610 249144610 G A rs12407362 ZNF692 Synonymous SNV C408C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.59 187483 chr1 2535679 2535679 C T rs138787733 MMEL1 Synonymous SNV T286T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.31 187484 chr5 121736802 121736802 G A SNCAIP Nonsynonymous SNV C60Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 187485 chr1 26510744 26510744 A G CNKSR1 Synonymous SNV S329S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.325 187486 chr10 12129639 12129639 G T rs146741810 DHTKD1 Nonsynonymous SNV A210S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.54 187487 chr10 12148346 12148346 C T rs144891795 DHTKD1 Synonymous SNV G666G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.3 187488 chr5 124080382 124080382 T A rs61749626 ZNF608 Nonsynonymous SNV T101S 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 187489 chr1 980774 980774 G A rs538909713 AGRN Nonsynonymous SNV G803S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.63 187490 chr1 27874449 27874449 C T rs148277570 AHDC1 Nonsynonymous SNV G1393D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 187491 chr1 150253303 150253307 ATAAA - C1orf54 K121Nfs*4 0.002 0 0 1 2 0 0.003 0 0 0 0 0 187492 chr10 17126451 17126451 C T rs763524933 CUBN Nonsynonymous SNV R707H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 1.877 187493 chr5 134022516 134022516 T G rs772710763 SEC24A Nonsynonymous SNV F510V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 187494 chr5 138857955 138857955 C T rs144010323 STING1 Nonsynonymous SNV R101H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.1 187495 chr1 153923824 153923824 G A rs779135391 CRTC2 Nonsynonymous SNV A439V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.35 187496 chr17 1372839 1372839 C T rs61753655 MYO1C Nonsynonymous SNV E866K 0.002 0.005 0.007 4 2 2 0.01 2 0 1 0 0 29.4 187497 chr5 140579736 140579736 - T rs564176008 PCDHB11 Frameshift insertion P131Sfs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 187498 chr5 140710332 140710332 G C rs372551770 PCDHGA1 Synonymous SNV G27G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 187499 chr1 156268840 156268840 A - rs752124852 VHLL Stop gain V48* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 187500 chr5 140783814 140783814 T - rs746088761 PCDHGA9 L432Rfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 187501 chr2 242742857 242742857 C T rs939445638 GAL3ST2 Nonsynonymous SNV A158V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 187502 chr2 242743443 242743443 C A GAL3ST2 Nonsynonymous SNV N353K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 187503 chr5 141336115 141336115 G T rs140142979 PCDH12 Nonsynonymous SNV D434E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 187504 chr11 61957807 61957807 C G rs139064953 SCGB1D1 Stop gain Y17X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.5 187505 chr20 25477343 25477343 G A NINL Synonymous SNV D422D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.069 187506 chr10 48388136 48388136 G A rs569610548 RBP3 Synonymous SNV P914P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 187507 chr2 27317399 27317399 T G rs755488258 KHK Nonsynonymous SNV F88L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 187508 chr11 64002937 64002937 T C rs200564126 VEGFB Nonsynonymous SNV V23A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.077 187509 chr2 29247095 29247095 G T rs370731705 TOGARAM2 Nonsynonymous SNV A379S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 187510 chr10 61835561 61835561 T C rs774624088 ANK3 Nonsynonymous SNV K1693R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.91 187511 chr1 38411480 38411480 G A rs774431618 INPP5B Nonsynonymous SNV R34C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.6 187512 chr19 36278842 36278842 A G rs767117152 ARHGAP33 Synonymous SNV S961S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 187513 chr20 37546928 37546928 C T PPP1R16B Synonymous SNV N399N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 187514 chr1 162546656 162546656 A T rs147520714 UAP1 Nonsynonymous SNV M124L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 187515 chr1 43316826 43316826 G A rs567776174 ZNF691 Nonsynonymous SNV R66Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.542 187516 chr11 66189721 66189721 C T rs550481213 NPAS4 Synonymous SNV S102S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 19.08 187517 chr1 16259869 16259869 C T rs147983953 SPEN Synonymous SNV P2378P 0.002 0 0 0 2 0 0 0 1 0 0 0 5.779 187518 chr1 44057598 44057598 G A rs370698404 PTPRF Synonymous SNV A549A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.37 187519 chr20 43726478 43726478 G T KCNS1 Nonsynonymous SNV S312Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 187520 chr1 16532816 16532816 G A rs775727303 ARHGEF19 Nonsynonymous SNV T386I 0.002 0 0 0 2 0 0 0 1 0 0 0 28.1 187521 chr19 7075736 7075736 C T rs372814107 ZNF557 Synonymous SNV L34L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.479 187522 chr1 6181632 6181632 G C CHD5 Nonsynonymous SNV D1567E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 187523 chr1 16632302 16632302 C A rs200961361 FBXO42 Synonymous SNV S121S 0.002 0 0 0 2 0 0 0 1 0 0 0 19.08 187524 chr5 172362250 172362250 C G rs749645712 ERGIC1 Nonsynonymous SNV D234E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 187525 chr19 7585332 7585358 GCTGCTGCAGCTGCCGCGGCCGCTGCA - rs769915003 ZNF358 A408_A416del 0.001 0 0 0 1 0 0 0 0 0 0 0 187526 chr19 38134253 38134253 T A ZFP30 Nonsynonymous SNV I50F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 187527 chr10 75525847 75525847 A G rs747747931 SEC24C Nonsynonymous SNV N496D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 187528 chr20 44577677 44577677 C T ZNF335 Nonsynonymous SNV G1315D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 187529 chr11 68854029 68854029 C T rs78034812 TPCN2 Nonsynonymous SNV S681L 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 34 187530 chr1 6305228 6305228 C G rs201341342 HES3 Synonymous SNV P74P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.24 187531 chr10 79795388 79795388 T C rs201805132 RPS24 Synonymous SNV H63H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.1 187532 chr1 170705189 170705189 C A rs151333816 PRRX1 Nonsynonymous SNV S200R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 187533 chr5 176885279 176885279 G A rs749558347 DBN1 Nonsynonymous SNV P251L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 187534 chr2 63605613 63605613 A G WDPCP Synonymous SNV Y393Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 187535 chr2 64863362 64863362 C T rs760972379 SERTAD2 Nonsynonymous SNV R215H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 187536 chr17 3493366 3493366 T C rs201868709 TRPV1 Nonsynonymous SNV N260S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.5 187537 chr2 70504356 70504356 C - rs772658623 PCYOX1 H451Mfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 187538 chr11 75141266 75141266 C T rs575396620 KLHL35 Nonsynonymous SNV G137S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.71 187539 chr2 71377054 71377054 A T rs775698142 MPHOSPH10 Nonsynonymous SNV D652V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 187540 chr1 176903420 176903420 C T rs374641554 ASTN1 Nonsynonymous SNV A847T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.4 187541 chr20 56179793 56179793 G A rs373855096 ZBP1 Nonsynonymous SNV H301Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 187542 chr1 178414790 178414790 C T rs370544500 RASAL2 Synonymous SNV D392D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 14.28 187543 chr11 82444138 82444138 T G FAM181B Nonsynonymous SNV T212P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 187544 chr11 82644525 82644525 G A DDIAS Synonymous SNV E715E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.042 187545 chr10 98165031 98165031 C T rs753376490 TLL2 Nonsynonymous SNV V409M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 187546 chr5 33662086 33662086 C G rs778154722 ADAMTS12 Nonsynonymous SNV Q325H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 187547 chr1 6253045 6253045 T G rs890696461 RPL22 Nonsynonymous SNV I63L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 187548 chr19 4234671 4234671 C T rs146774568 EBI3 Synonymous SNV P129P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.64 187549 chr20 60897367 60897367 A G rs377463062 LAMA5 Nonsynonymous SNV C2102R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 187550 chr10 99655659 99655659 C T rs147584793 CRTAC1 Nonsynonymous SNV V434I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 187551 chr5 38409187 38409187 C T rs748075796 EGFLAM Stop gain R210X 0 0 0.003 0 0 0 0 1 0 0 0 0 45 187552 chr5 39308387 39308388 AG - rs752437276 C9 S395Cfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 187553 chr20 61468521 61468521 C T rs143489071 COL9A3 Nonsynonymous SNV P564S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 187554 chr5 42718719 42718719 T A rs200102164 GHR Nonsynonymous SNV H348Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12 187555 chr1 6649188 6649188 T C rs764876418 ZBTB48 Synonymous SNV C661C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.753 187556 chr10 103906724 103906726 CCA - PPRC1 H1206del 0.001 0 0 0 1 0 0 0 0 0 0 0 187557 chr19 9524224 9524224 G A rs769337149 ZNF266 Synonymous SNV S459S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 187558 chr2 98409941 98409941 T C rs765615791 TMEM131 Synonymous SNV L1154L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.433 187559 chr1 100133290 100133290 C A rs11802902 PALMD Nonsynonymous SNV H73Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.16 187560 chr19 44982235 44982235 C T ZNF180 Nonsynonymous SNV V130M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.29 187561 chr5 55155397 55155397 C G IL31RA Nonsynonymous SNV L23V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 187562 chr3 100585790 100585790 T A rs75352479 ABI3BP Nonsynonymous SNV E314D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.5 187563 chr1 198498234 198498234 C G rs16843254 ATP6V1G3 Nonsynonymous SNV E54Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.66 187564 chr1 199997003 199997003 T A rs61755053 NR5A2 Nonsynonymous SNV L10I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 187565 chr5 57755632 57755632 G A PLK2 Nonsynonymous SNV P52L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.846 187566 chr1 201169365 201169365 G A rs762314040 IGFN1 Synonymous SNV R153R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 187567 chr5 68411103 68411103 G A SLC30A5 Nonsynonymous SNV V218I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 187568 chr5 68572950 68572950 A G CDK7 Synonymous SNV K286K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.854 187569 chr20 10030259 10030259 G C rs201932590 ANKEF1 Nonsynonymous SNV D348H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 187570 chr10 116050035 116050035 C T rs112771171 VWA2 Nonsynonymous SNV P720L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 187571 chr10 118100276 118100276 T C rs746631943 CCDC172 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 187572 chr10 119044644 119044644 G A PDZD8 Nonsynonymous SNV L534F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 187573 chr5 75932910 75932910 A G rs530310707 IQGAP2 Nonsynonymous SNV Y164C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.38 187574 chr1 205197792 205197792 C T TMCC2 Nonsynonymous SNV R34W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 187575 chr20 23860113 23860113 G A rs144966018 CST5 Synonymous SNV R67R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.036 187576 chr5 79855295 79855295 T C rs745572375 ANKRD34B Nonsynonymous SNV T182A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 187577 chr5 80626319 80626319 A G rs753609339 ACOT12 Nonsynonymous SNV F521S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 187578 chr5 82786249 82786249 G A rs201274252 VCAN Nonsynonymous SNV G135R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 187579 chr3 122552269 122552269 G A rs770051652 SLC49A4 Nonsynonymous SNV R270Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 187580 chr20 32000158 32000158 G A rs138863915 SNTA1 Synonymous SNV P328P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.45 187581 chr17 56572896 56572896 A G MTMR4 Synonymous SNV N869N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.52 187582 chr5 95067396 95067396 C T rs759814565 SPATA9 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20.8 187583 chr1 120483362 120483362 C A NOTCH2 Nonsynonymous SNV G1000V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 187584 chr11 129722413 129722413 T C rs986463652 TMEM45B Synonymous SNV S12S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.224 187585 chr17 60813799 60813799 A G rs144292228 MARCHF10 Nonsynonymous SNV M477T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.387 187586 chr11 130343098 130343098 G A rs142412900 ADAMTS15 Synonymous SNV A745A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 187587 chr1 220275842 220275842 C T IARS2 Nonsynonymous SNV A252V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 187588 chr20 2539422 2539422 T G rs764537585 TMC2 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 187589 chr17 62043566 62043566 G A SCN4A Nonsynonymous SNV R380W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 187590 chr6 109820430 109820430 G A rs145186563 AK9 Synonymous SNV C1621C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 11.27 187591 chr17 650826 650826 A T rs201063045 GEMIN4 Nonsynonymous SNV S153T 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 Likely benign 12.55 187592 chr21 48069528 48069528 G A rs373144457 PRMT2 Synonymous SNV G177G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 187593 chr3 133538461 133538461 G A rs777471623 SRPRB Nonsynonymous SNV A223T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 187594 chr6 114378658 114378658 G A rs144164220 HS3ST5 Synonymous SNV L268L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.151 187595 chr12 6665057 6665057 C G rs541587507 IFFO1 Nonsynonymous SNV G47R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.36 187596 chr3 140689812 140689812 G A rs759611550 SLC25A36 Synonymous SNV K143K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.82 187597 chr1 228487827 228487827 G A rs779575539 OBSCN Synonymous SNV S4573S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.142 187598 chr1 23418994 23418994 G T LUZP1 Synonymous SNV G587G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.218 187599 chr12 10134722 10134722 C T rs777617228 CLEC12A Nonsynonymous SNV S179F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.35 187600 chr3 154859855 154859855 G A rs61758194 MME Nonsynonymous SNV V345I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.32 187601 chr20 4680494 4680494 G A rs74315407 PRNP Nonsynonymous SNV V210I 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 13.53 187602 chr3 156234108 156234108 A G rs75648931 KCNAB1 Synonymous SNV G276G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 10.31 187603 chr1 236176855 236176855 C T NID1 Nonsynonymous SNV V754M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 187604 chr3 158320710 158320710 C T rs568598486 MLF1 Nonsynonymous SNV S183F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.507 187605 chr17 73269356 73269356 - CA LOC100287042 0.002 0 0 1 2 0 0.003 0 0 0 0 0 187606 chr22 30805198 30805198 T C rs771123829 SEC14L2 Nonsynonymous SNV I66T 0.003 0 0 0 4 0 0 0 0 0 0 0 23 187607 chr20 50776827 50776827 C G rs781103623 ZFP64 Nonsynonymous SNV V146L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 187608 chr3 172052790 172052790 G A rs139505585 FNDC3B Synonymous SNV T566T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 187609 chr22 32330337 32330337 G T C22orf24 Nonsynonymous SNV Q151K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.56 187610 chr3 175184929 175184929 G A rs772222800 NAALADL2 Nonsynonymous SNV G497E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 187611 chr17 7464103 7464103 C G rs773362469 TNFSF12-TNFSF13, TNFSF13 Nonsynonymous SNV L209V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 15.45 187612 chr19 55857971 55857971 G A KMT5C Nonsynonymous SNV G271S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.68 187613 chr6 152720832 152720832 T C rs147947903 SYNE1 Nonsynonymous SNV I2393V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.004 187614 chr6 152762383 152762383 C T rs144566713 SYNE1 Nonsynonymous SNV R1351Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.5 187615 chr3 180362018 180362018 G T rs374289303 CCDC39 Nonsynonymous SNV H519N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.663 187616 chr20 61938856 61938856 C T rs200049003 COL20A1 Nonsynonymous SNV R171C 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.86 187617 chr20 61943396 61943396 C T rs771979301 COL20A1 Nonsynonymous SNV H598Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 187618 chr6 158509726 158509726 G A rs145859045 SYNJ2 Synonymous SNV A889A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 187619 chr3 184026552 184026552 G A rs11545176 PSMD2 Synonymous SNV T737T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 187620 chr22 39112921 39112921 C T rs138114417 GTPBP1 Synonymous SNV F250F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 14.04 187621 chr12 29598258 29598258 A G rs74678553 OVCH1 Nonsynonymous SNV L980P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.597 187622 chr12 29630102 29630102 G A rs115237496 OVCH1 Nonsynonymous SNV P472L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 187623 chr3 184093348 184093348 C A rs200666378 THPO Synonymous SNV L61L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 18.19 187624 chr20 62669470 62669470 A C C20orf204 Nonsynonymous SNV H65P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.423 187625 chr20 62737383 62737383 C T rs140478149 NPBWR2 Nonsynonymous SNV V268M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 187626 chr6 169632243 169632243 C G rs777721723 THBS2 Nonsynonymous SNV K661N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 187627 chr12 48919927 48919927 C G OR8S1 Synonymous SNV A171A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.847 187628 chr1 26644537 26644537 C A rs77928789 CD52, UBXN11 Nonsynonymous SNV T10N 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 24.2 187629 chr22 46654331 46654331 A G PKDREJ Nonsynonymous SNV I1630T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 187630 chr1 27648733 27648733 G A rs113210734 TMEM222 Synonymous SNV P15P 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 15.59 187631 chr21 28296552 28296552 T C rs749355338 ADAMTS5 Synonymous SNV G871G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 187632 chr21 30307518 30307518 T C LTN1 Synonymous SNV R1582R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.684 187633 chr3 196455620 196455620 A G rs776568876 PIGX Nonsynonymous SNV T194A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 187634 chr6 24596678 24596678 C T rs369170001 KIAA0319 Nonsynonymous SNV G30D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 187635 chr19 6707175 6707175 C T rs143671993 C3 Synonymous SNV A719A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.37 187636 chr21 34143879 34143879 G T PAXBP1 Nonsynonymous SNV P34Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 187637 chr21 34860850 34860850 G A DNAJC28 Nonsynonymous SNV P284L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 187638 chr6 26478252 26478252 C T rs34104395 LOC285819 0 0 0.01 0 0 0 0 3 0 0 1 0 11.61 187639 chr3 32800970 32800970 G A rs200291134 CNOT10 Nonsynonymous SNV S512N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 187640 chr6 27115467 27115467 A G rs17737028 MIR3143 0 0 0.003 0 0 0 0 1 0 0 0 0 1.325 187641 chr6 27806709 27806709 C T rs766088467 HIST1H2BN Synonymous SNV I90I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 187642 chr3 38798204 38798206 CTT - rs758898721 SCN10A K417del 0.001 0 0 0 1 0 0 0 0 0 0 0 187643 chr21 41032916 41032916 C T rs778291682 B3GALT5 Nonsynonymous SNV R144C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.5 187644 chr1 19565307 19565307 C T rs143891566 EMC1 Synonymous SNV S335S 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Likely benign 20.5 187645 chr6 33653297 33653297 C T rs773815727 ITPR3 Synonymous SNV D1823D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.94 187646 chr2 105915125 105915125 G T TGFBRAP1 Synonymous SNV A242A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 187647 chr1 200587701 200587701 C T rs141578394 KIF14 Nonsynonymous SNV D51N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.22 187648 chr1 201042686 201042686 G A rs747075757 CACNA1S Synonymous SNV T716T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.93 187649 chr21 46876654 46876654 G A rs141363853 COL18A1 Nonsynonymous SNV A404T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.599 187650 chr6 36590245 36590245 T C MIR3925 0 0 0.003 0 0 0 0 1 0 0 0 0 0.858 187651 chr1 42048906 42048906 T C rs746772017 HIVEP3 Synonymous SNV S521S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.033 187652 chr2 113089894 113089894 T C rs193059585 ZC3H6 Synonymous SNV P1133P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 187653 chr6 41739160 41739160 G T rs45465093 FRS3 Nonsynonymous SNV P226T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.022 187654 chr22 17446156 17446156 T A GAB4 Nonsynonymous SNV N278Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 187655 chr19 9085214 9085214 A G rs778459239 MUC16 Nonsynonymous SNV W2201R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 187656 chr6 42231220 42231220 G A rs141140394 TRERF1 Synonymous SNV P574P 0.003 0 0.01 2 4 0 0.005 3 0 0 0 0 Benign 12.37 187657 chr3 48461135 48461135 C T rs151201859 PLXNB1 Nonsynonymous SNV E854K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 187658 chr3 48629145 48629145 C T rs143372872 COL7A1 Nonsynonymous SNV G490S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 187659 chr3 48629354 48629354 C T rs528257059 COL7A1 Nonsynonymous SNV R445Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 187660 chr19 9968488 9968488 C T OLFM2 Nonsynonymous SNV R10H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 187661 chr3 49049600 49049600 C T WDR6 Synonymous SNV I185I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.685 187662 chr22 20128402 20128402 T C rs147362841 ZDHHC8 Nonsynonymous SNV V254A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.396 187663 chr3 49680057 49680057 C T rs150958807 BSN Synonymous SNV T330T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 187664 chr1 207252343 207252343 G A rs144692490 PFKFB2 Synonymous SNV A465A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.204 187665 chr3 49700875 49700875 C A rs144229405 BSN Nonsynonymous SNV P3762T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 187666 chr22 21385389 21385389 A G rs143590165 SLC7A4 Nonsynonymous SNV M238T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 187667 chr11 18956230 18956230 C T rs144203919 MRGPRX1 Synonymous SNV T34T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.57 187668 chr3 49712022 49712022 A G rs373871160 APEH Nonsynonymous SNV Q38R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 187669 chr1 55145624 55145624 C T rs778639426 MROH7 Nonsynonymous SNV R281C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 187670 chr3 49739824 49739824 G A RNF123 Nonsynonymous SNV A539T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 187671 chr1 209807809 209807809 G A rs116124880 LAMB3 Nonsynonymous SNV R183C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.4 187672 chr18 59777136 59777136 T C rs748821498 PIGN Nonsynonymous SNV Q502R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 23.6 187673 chr1 212273865 212273865 A G rs144105202 DTL Synonymous SNV S240S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.764 187674 chr12 85518130 85518130 C T rs568536441 LRRIQ1 Synonymous SNV S1280S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 187675 chr12 88439364 88439364 G C rs775712497 C12orf29 Nonsynonymous SNV V143L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 187676 chr2 152955521 152955521 G A rs200092211 CACNB4 Nonsynonymous SNV S2F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 187677 chr6 56032956 56032956 A G COL21A1 Nonsynonymous SNV I389T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 187678 chr3 57640415 57640415 G A rs937500915 PDE12 Synonymous SNV K484K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.733 187679 chr11 46329480 46329480 G C rs775995889 CREB3L1 Nonsynonymous SNV A149P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 187680 chr3 9710431 9710431 G A MTMR14 Nonsynonymous SNV G149E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 187681 chr12 110296545 110296545 A G rs531425150 GLTP Synonymous SNV D35D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.94 187682 chr22 36006945 36006945 C T rs751293131 MB Nonsynonymous SNV V102M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 187683 chr3 9882414 9882414 T A RPUSD3 Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.504 187684 chr12 113707649 113707649 C T rs142428264 TPCN1 Synonymous SNV L181L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 187685 chr4 106888468 106888468 C T rs141917363 NPNT Nonsynonymous SNV T461M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 187686 chr22 40069995 40069995 G A rs754546185 CACNA1I Nonsynonymous SNV G1569E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 187687 chr12 122359237 122359237 G A rs766750229 WDR66 Nonsynonymous SNV R9Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.937 187688 chr12 124191297 124191297 C T rs193008632 TCTN2 Synonymous SNV Y597Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.431 187689 chr1 236925774 236925774 C T rs370569935 ACTN2 Nonsynonymous SNV A847V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 187690 chr4 123245676 123245676 G A rs1019117921 KIAA1109 Nonsynonymous SNV R3630Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 187691 chr22 45927150 45927150 A G rs145471003 FBLN1 Nonsynonymous SNV I164V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.06 187692 chr7 100647652 100647652 C T rs111660528 MUC12 Nonsynonymous SNV T4603M 0.003 0.005 0.041 0 3 2 0 12 0 0 6 0 7.147 187693 chr20 14307205 14307205 T A rs141238925 FLRT3 Synonymous SNV V316V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 1.045 187694 chr22 46711994 46711994 T G GTSE1 Nonsynonymous SNV S373A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 187695 chr7 100843576 100843576 C T rs374162019 MOGAT3 Nonsynonymous SNV R76H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 187696 chr1 245849444 245849444 C T rs201841118 KIF26B Synonymous SNV C1053C 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Benign 11.89 187697 chr1 245850513 245850513 C G rs113972282 KIF26B Nonsynonymous SNV P1410A 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 Likely benign 0.001 187698 chr7 104751220 104751220 C T rs187060721 KMT2E Nonsynonymous SNV P1325S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 187699 chr4 144435298 144435298 A T rs374293803 SMARCA5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.778 187700 chr22 50662807 50662807 C T rs148935356 TUBGCP6 Nonsynonymous SNV R703H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 187701 chr11 56468431 56468431 G A rs141836537 OR9G1, OR9G9 Nonsynonymous SNV E190K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.144 187702 chr13 30804719 30804719 C A rs202084 KATNAL1 Nonsynonymous SNV A300S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.8 187703 chr2 209169642 209169642 C G PIKFYVE Nonsynonymous SNV S417C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 187704 chr11 57428280 57428280 T C rs147951568 CLP1 Nonsynonymous SNV V153A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.669 187705 chr7 127953306 127953306 C T rs767025124 RBM28 Synonymous SNV V548V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 187706 chr7 128441259 128441259 G A rs201330064 CCDC136 Synonymous SNV R122R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.237 187707 chr20 31238470 31238470 G C rs778706898 C20orf203 Nonsynonymous SNV R117G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 187708 chr7 135095264 135095264 C T rs759685984 CNOT4 0 0 0.003 0 0 0 0 1 0 0 0 0 25 187709 chr2 113322004 113322004 G A rs144935807 POLR1B Synonymous SNV L347L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.466 187710 chr4 178354393 178354393 T C AGA Nonsynonymous SNV I305M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 187711 chr4 186085309 186085309 C T rs372872250 CFAP97 Nonsynonymous SNV V449M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 187712 chr11 61511794 61511794 C G rs117050893 DAGLA Nonsynonymous SNV L988V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.121 187713 chr7 141478296 141478296 G A rs2233995 TAS2R4 Nonsynonymous SNV R3Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 187714 chr2 220404299 220404299 G A rs145461090 CHPF Nonsynonymous SNV L550F 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 24.6 187715 chr7 141840614 141840614 T A rs199731485 MGAM2 Nonsynonymous SNV S367T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 23.1 187716 chr13 77663000 77663000 T G rs374982453 MYCBP2 Synonymous SNV L3564L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.51 187717 chr2 220437318 220437318 C T rs145914738 INHA Synonymous SNV P74P 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 11.29 187718 chr7 143091946 143091946 G A rs139688465 EPHA1 Synonymous SNV G769G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.87 187719 chr13 99948031 99948031 G A rs41280144 GPR183 Synonymous SNV T123T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.73 187720 chr1 3329051 3329051 G A rs149333409 PRDM16 Nonsynonymous SNV V764M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 1.498 187721 chr4 25020795 25020795 A G rs764311914 LGI2 Nonsynonymous SNV I160T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 187722 chr7 144094595 144094595 G C NOBOX Nonsynonymous SNV P605R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 187723 chr7 148288080 148288080 A G rs147689956 C7orf33 Synonymous SNV Q21Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.304 187724 chr13 103396825 103396825 T C rs149930386 CCDC168 Synonymous SNV E2074E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.55 187725 chr7 150439381 150439381 G A rs145457104 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV V52M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.23 187726 chr4 3076693 3076693 G T rs9993367 HTT Synonymous SNV P47P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.135 187727 chr13 109318409 109318409 A G rs374717186 MYO16 Synonymous SNV K68K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.003 187728 chr4 3213865 3213865 G A rs144090436 HTT Synonymous SNV L2208L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.28 187729 chr4 3494701 3494701 G T rs777293497 DOK7 Nonsynonymous SNV V20F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 187730 chr7 1515984 1515984 G A rs375794790 INTS1 Synonymous SNV A1753A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.591 187731 chr7 1524808 1524808 T C rs376262089 INTS1 Nonsynonymous SNV I1063V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.484 187732 chr7 154429569 154429569 C T rs78772149 DPP6 Synonymous SNV S158S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 15.04 187733 chr7 154735805 154735805 C T PAXIP1-AS2 0.002 0 0.007 0 2 0 0 2 0 0 0 0 15.21 187734 chr4 38799956 38799956 T - rs761749628 TLR1 K166Rfs*6 0.002 0 0.003 0 2 0 0 1 0 0 0 0 187735 chr4 38799957 38799957 T A rs148163826 TLR1 Stop gain K166X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27 187736 chr11 66190359 66190359 C T NPAS4 Nonsynonymous SNV P42L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 187737 chr4 4285362 4285362 G A rs528236112 LYAR Synonymous SNV C36C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.855 187738 chr7 2611278 2611278 C T rs368265748 IQCE Synonymous SNV T18T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 187739 chr7 26411779 26411782 AATT - rs71744614 LOC105375304 0 0 0.031 0 0 0 0 9 0 0 2 0 187740 chr14 21811303 21811303 G A rs144704092 RPGRIP1 Nonsynonymous SNV D1150N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.3 187741 chr14 21853898 21853898 G A rs367905297 CHD8 Synonymous SNV D2540D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.677 187742 chr2 179433643 179433643 G C rs56391938 TTN Nonsynonymous SNV A16674G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.37 187743 chr1 52854915 52854915 A C rs554803101 ORC1 Synonymous SNV T387T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.003 187744 chr2 178981107 178981107 T G rs145599521 RBM45 Nonsynonymous SNV F140C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 187745 chr1 54059995 54059995 C A rs149706629 GLIS1 Nonsynonymous SNV R194L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.94 187746 chr2 26802211 26802211 G A rs147381361 FAM166C Nonsynonymous SNV E171K 0.001 0 0 0 1 0 0 0 0 0 0 0 17 187747 chr7 31862768 31862768 C T rs199766591 PDE1C Nonsynonymous SNV V501I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.2 187748 chr14 24546584 24546584 C T rs757819303 CPNE6 Synonymous SNV F507F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.79 187749 chr2 179635229 179635229 G C TTN Nonsynonymous SNV L2718V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.9 187750 chr19 3907799 3907799 G A rs373080859 ATCAY Synonymous SNV T142T 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Benign/Likely benign 7.836 187751 chr7 34818161 34818161 T A rs753750194 NPSR1 Nonsynonymous SNV V112E 0 0 0.003 0 0 0 0 1 0 0 0 0 32 187752 chr14 24653021 24653021 A T IPO4 Nonsynonymous SNV D651E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.186 187753 chr14 24718579 24718579 G A rs201811993 TGM1 Synonymous SNV D798D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.228 187754 chr4 680059 680059 C T rs141982941 SLC49A3 Synonymous SNV G109G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.29 187755 chr11 85438441 85438441 T C rs61746641 SYTL2 Nonsynonymous SNV K654E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.079 187756 chr7 38766575 38766575 G A rs143998892 VPS41 Synonymous SNV P781P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.85 187757 chr1 6202296 6202296 G A rs754931120 CHD5 Synonymous SNV Y776Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.733 187758 chr7 44556415 44556415 G A rs145423806 NPC1L1 Nonsynonymous SNV R1136C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 187759 chr20 8637863 8637863 A G rs151006778 PLCB1 Synonymous SNV P209P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.504 187760 chr14 47120549 47120549 T A rs114329167 RPL10L Nonsynonymous SNV I131F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.46 187761 chr21 31538704 31538704 C T rs150877940 CLDN17 Nonsynonymous SNV E78K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 29.9 187762 chr21 31797919 31797919 G A rs73356706 KRTAP13-3 Synonymous SNV S104S 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 5.801 187763 chr21 31802629 31802629 C T rs73356729 KRTAP13-4 Synonymous SNV S12S 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 8.817 187764 chr21 31859574 31859574 C A rs8131735 KRTAP19-2 Nonsynonymous SNV G32C 0.004 0.003 0.003 3 5 1 0.008 1 0 0 0 0 8.699 187765 chr14 50760863 50760863 C T rs151305613 L2HGDH Synonymous SNV E170E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.83 187766 chr21 31914019 31914019 C T rs77807247 KRTAP19-6 Nonsynonymous SNV R45H 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 2.465 187767 chr4 81196136 81196136 G A rs143607241 FGF5 Synonymous SNV A143A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 187768 chr21 32410582 32410582 C T rs7279142 KRTAP19-8 Nonsynonymous SNV A61T 0.004 0.003 0.003 0 5 1 0 1 1 0 0 0 5.594 187769 chr11 107686548 107686548 - G SLC35F2 Frameshift insertion L85Pfs*14 0.001 0.003 0 0 1 1 0 0 0 0 0 0 187770 chr11 108098393 108098393 A G rs771378101 ATM Synonymous SNV Q14Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.328 187771 chr7 53103656 53103656 A G rs201691867 POM121L12 Nonsynonymous SNV R98G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.346 187772 chr1 78585079 78585079 A G rs373924776 GIPC2 Nonsynonymous SNV I130V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.458 187773 chr2 204003457 204003457 A G rs534330855 NBEAL1 Nonsynonymous SNV R1583G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 22.6 187774 chr2 205989107 205989107 G T PARD3B Nonsynonymous SNV G408C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 187775 chr14 56755274 56755274 C T rs368097050 PELI2 Synonymous SNV I143I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.4 187776 chr4 89199348 89199348 C T rs371035911 PPM1K Nonsynonymous SNV G130S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 187777 chr2 67631534 67631534 G T ETAA1 Nonsynonymous SNV G574C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 187778 chr2 210570310 210570310 G A rs746921940 MAP2 Nonsynonymous SNV V175I 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 15.83 187779 chr7 77402472 77402472 A G RSBN1L Nonsynonymous SNV N545S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 187780 chr2 215876228 215876228 T A rs372688749 ABCA12 Nonsynonymous SNV D438V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26 187781 chr7 86554877 86554877 T C rs377125379 KIAA1324L Nonsynonymous SNV N216D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 187782 chr7 88966201 88966201 C G rs751245503 ZNF804B Nonsynonymous SNV P1302R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 187783 chr2 215843598 215843598 C T rs146836452 ABCA12 Nonsynonymous SNV R1318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 187784 chr14 73959790 73959790 C T rs368459350 HEATR4 Nonsynonymous SNV D942N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.28 187785 chr7 97862807 97862807 A G rs200317044 TECPR1 Nonsynonymous SNV L533P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.3 187786 chr2 219885890 219885890 A G rs756702993 CFAP65 Synonymous SNV S1081S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.075 187787 chr7 98875292 98875292 C T rs190987611 MYH16 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 187788 chr19 47152813 47152813 G A rs184739971 DACT3 Synonymous SNV P47P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.36 187789 chr5 1244357 1244357 C T rs144703302 SLC6A18 Synonymous SNV S455S 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 10.27 187790 chr11 124824697 124824697 G A rs376190381 CCDC15 Synonymous SNV L23L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.28 187791 chr22 18028242 18028242 G A CECR2 Nonsynonymous SNV E925K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 187792 chr8 100990160 100990160 G A rs372450445 RGS22 Synonymous SNV D987D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 187793 chr2 220396543 220396543 C T rs199912510 ASIC4 Nonsynonymous SNV R343W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 187794 chr19 48047980 48047980 T C rs530077394 ZNF541 Synonymous SNV P602P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.005 187795 chr8 10388896 10388896 G A rs150449267 PRSS55 Nonsynonymous SNV D147N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.497 187796 chr20 16485039 16485039 G A rs369831714 KIF16B Nonsynonymous SNV T385M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 187797 chr2 223559161 223559161 G C rs202017802 MOGAT1 Nonsynonymous SNV G187R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 187798 chr19 48981830 48981830 G C CYTH2 Nonsynonymous SNV E365Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.2 187799 chr14 88429779 88429779 G C rs372793797 GALC Stop gain Y347X 0.002 0.005 0 0 2 2 0 0 0 0 0 0 31 187800 chr14 88429780 88429780 T G rs148638986 GALC Nonsynonymous SNV Y347S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.1 187801 chr5 137610038 137610038 G A rs760875034 GFRA3 Synonymous SNV L26L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.49 187802 chr5 137726857 137726857 A G rs181005843 KDM3B Synonymous SNV A512A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.593 187803 chr3 10320110 10320110 C T rs146507538 TATDN2 Synonymous SNV I703I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 187804 chr2 224842302 224842302 A G rs370057042 SERPINE2 Nonsynonymous SNV V372A 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 187805 chr19 49622153 49622153 G C C19orf73 Nonsynonymous SNV L43V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.6 187806 chr12 1940504 1940504 T A rs756777092 LRTM2 Synonymous SNV P157P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.697 187807 chr20 2616628 2616628 A G rs755256023 TMC2 Nonsynonymous SNV Q788R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.26 187808 chr2 233897414 233897414 C A rs2233384 NEU2 Nonsynonymous SNV S11R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.737 187809 chr1 234601456 234601456 - AA rs768310061 TARBP1 0.001 0 0 2 1 0 0.005 0 0 0 0 0 187810 chr3 112300174 112300174 - ATGGAGAAGAACTAGAAAGACTTACCAAACCCAAGAGTGATGAGTCAGATGAAGATACTTTC SLC35A5 0.001 0 0 0 1 0 0 0 0 0 0 0 187811 chr19 50393736 50393736 C T rs780565421 IL4I1 Nonsynonymous SNV V299M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.8 187812 chr19 50464269 50464280 CCAGCACGGGCA - SIGLEC11 L20_G24delinsR 0 0.003 0 1 0 1 0.003 0 0 0 0 0 187813 chr19 50549647 50549647 C T rs766663104 ZNF473 Synonymous SNV N637N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.66 187814 chr3 113138877 113138877 A G CFAP44 Nonsynonymous SNV I186T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 187815 chr12 6981911 6981911 T A SPSB2 Nonsynonymous SNV D52V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 187816 chr12 7177544 7177544 C A C1S Synonymous SNV G385G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.249 187817 chr5 141041639 141041639 C T rs116475968 ARAP3 Nonsynonymous SNV R995Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.5 187818 chr8 142222331 142222331 C T rs145913953 SLC45A4 Nonsynonymous SNV E705K 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 23.4 187819 chr3 123047595 123047595 G A rs372218632 ADCY5 Synonymous SNV S217S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 187820 chr22 39477217 39477217 A T rs758889931 APOBEC3G Nonsynonymous SNV I84F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 187821 chr3 128356697 128356697 C T rs199634162 RPN1 Nonsynonymous SNV R193H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 187822 chr8 144995349 144995349 G A rs782111379 PLEC Synonymous SNV C2866C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.464 187823 chr19 53473236 53473236 A G rs185554839 ZNF702P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.096 187824 chr8 145016670 145016670 C A PLEC Nonsynonymous SNV G5V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.599 187825 chr15 31619548 31619548 A G rs1057070402 KLF13 Nonsynonymous SNV T45A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.849 187826 chr8 145580727 145580727 C G FBXL6 Nonsynonymous SNV G232R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.06 187827 chr5 156770083 156770083 C A FNDC9 Nonsynonymous SNV E154D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 187828 chr2 29293520 29293520 G A rs757774860 PCARE Nonsynonymous SNV P1203L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.007 187829 chr5 15937004 15937004 G A FBXL7 Synonymous SNV E348E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.221 187830 chr8 146066765 146066765 G A rs779492793 ZNF7 Synonymous SNV E112E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.497 187831 chr8 146066766 146066766 C A rs748927331 ZNF7 Nonsynonymous SNV Q113K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.514 187832 chr1 26301035 26301035 C - rs766539153 PAFAH2 E289Rfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 187833 chr2 33747068 33747068 T C rs746397814 RASGRP3 Nonsynonymous SNV S139P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 187834 chr2 3391458 3391458 G A rs200941005 TRAPPC12 Nonsynonymous SNV A22T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 7.079 187835 chr5 169535112 169535112 T A FOXI1 Nonsynonymous SNV F212I 0.001 0 0 0 1 0 0 0 0 0 0 0 29 187836 chr5 169812420 169812420 C T rs201275787 KCNMB1 Nonsynonymous SNV R11Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 187837 chr5 173035296 173035296 - TTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCTTCGGGCTCTGGAGGGGG BOD1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 187838 chr8 1853763 1853763 C T rs146717173 ARHGEF10 Synonymous SNV L578L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 187839 chr1 27697130 27697130 G T rs896408264 FCN3 Nonsynonymous SNV D194E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 187840 chr20 590462 590462 G A rs765897119 TCF15 Synonymous SNV C140C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.889 187841 chr19 55697702 55697702 A G PTPRH Nonsynonymous SNV I712T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 187842 chr12 48272784 48272784 G C VDR Nonsynonymous SNV A38G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 187843 chr15 44920931 44920931 T C rs764762491 SPG11 Nonsynonymous SNV Y668C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23 187844 chr8 2044114 2044114 C T rs147776183 MYOM2 Nonsynonymous SNV T718M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 187845 chr15 45409743 45409743 A G rs758651908 DUOXA1 Synonymous SNV C429C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 187846 chr12 49446456 49446456 G A rs201709328 KMT2D Synonymous SNV D383D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.985 187847 chr12 49953254 49953254 G A MCRS1 Synonymous SNV Y165Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 187848 chr12 49993555 49993555 C T rs150891582 FAM186B Nonsynonymous SNV R623H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.755 187849 chr12 50745928 50745928 A G rs757091979 FAM186A Synonymous SNV L1563L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 187850 chr8 23306400 23306400 C G rs200234401 ENTPD4 Nonsynonymous SNV V21L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.74 187851 chr1 35658384 35658384 C T rs372546993 SFPQ Synonymous SNV P89P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.85 187852 chr15 56387473 56387473 T G rs750301161 RFX7 Nonsynonymous SNV K721T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 187853 chr8 28950393 28950393 G T rs765258742 KIF13B Nonsynonymous SNV L1443I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.097 187854 chr3 170216534 170216534 G A rs140171820 SLC7A14 Synonymous SNV F227F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 187855 chr15 61521328 61521328 C T rs201242304 RORA Synonymous SNV P30P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.58 187856 chr15 63972884 63972884 G A rs759604048 HERC1 Nonsynonymous SNV S2106L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 187857 chr2 11932055 11932055 A G rs148499322 LPIN1 Nonsynonymous SNV I541V 0.002 0 0.014 0 2 0 0 4 0 0 1 0 Benign/Likely benign 12.81 187858 chr8 33356009 33356009 G T MAK16 Nonsynonymous SNV E255D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 187859 chr8 3432575 3432575 T C rs753121309 CSMD1 Synonymous SNV G412G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.593 187860 chr15 65157591 65157591 G A rs201140922 PLEKHO2 Nonsynonymous SNV G276D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.526 187861 chr8 38275506 38275506 C G FGFR1 Synonymous SNV L389L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 187862 chr2 71908183 71908183 G A rs115407852 DYSF Nonsynonymous SNV R1986Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 187863 chr15 66257263 66257263 G A rs565563572 MEGF11 Synonymous SNV D365D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.209 187864 chr2 73339622 73339622 G A rs546916811 RAB11FIP5 Nonsynonymous SNV P95L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 187865 chr2 73492680 73492680 G A FBXO41 Nonsynonymous SNV P432S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.207 187866 chr8 52321867 52321867 A G rs771643052 PXDNL Nonsynonymous SNV S773P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.285 187867 chr5 41049505 41049505 G T rs747052785 MROH2B Nonsynonymous SNV P460T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 187868 chr8 52811498 52811498 - G PCMTD1 Frameshift insertion R59Afs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 187869 chr15 69696250 69696250 G A rs1004971309 LOC145694 0 0.003 0 0 0 1 0 0 0 0 0 0 5.79 187870 chr5 43245938 43245938 C T rs55664335 NIM1K Nonsynonymous SNV R21W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 187871 chr5 434292 434292 C T AHRR Synonymous SNV P483P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.666 187872 chr15 72432267 72432267 C A rs200032071 SENP8 Synonymous SNV T101T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.42 187873 chr8 57219261 57219261 A C rs367896554 SDR16C5 Synonymous SNV T184T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.7 187874 chr8 67066299 67066299 T C rs144208714 TRIM55 Synonymous SNV T418T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 4.763 187875 chr8 67335773 67335773 G A rs73253606 RRS1-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 6.504 187876 chr8 67592249 67592249 G A rs16933026 C8orf44 0.003 0 0.014 1 3 0 0.003 4 1 0 0 0 15.46 187877 chr8 67680194 67680194 A G rs6472285 PTTG3P 0 0 0.031 0 0 0 0 9 0 0 0 0 0.449 187878 chr12 56625148 56625148 C T rs769513006 SLC39A5 Synonymous SNV G30G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 187879 chr2 9017238 9017238 G A rs143327474 MBOAT2 Synonymous SNV G71G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 187880 chr21 37444212 37444212 G A rs923875635 CBR1 Nonsynonymous SNV R166H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.074 187881 chr8 71574218 71574218 G A LACTB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.929 187882 chr12 57430592 57430592 G C rs140932379 MYO1A Synonymous SNV S746S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 8.658 187883 chr21 38529070 38529070 A T rs367863548 TTC3 Nonsynonymous SNV I230L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 187884 chr2 153575472 153575472 C T rs199937873 ARL6IP6 Nonsynonymous SNV L112F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 187885 chr2 99978230 99978230 C G rs200353540 EIF5B Nonsynonymous SNV T289S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.03 187886 chr15 83710560 83710560 A G BTBD1 Nonsynonymous SNV F261S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 187887 chr12 58204227 58204227 G A AVIL Synonymous SNV V222V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.92 187888 chr3 101039152 101039152 C T rs765940937 IMPG2 Nonsynonymous SNV G22E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 187889 chr21 43411526 43411526 G A rs200861261 ZBTB21 Synonymous SNV A893A 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 0.548 187890 chr12 68050954 68050954 G T DYRK2 Nonsynonymous SNV Q16H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.065 187891 chr5 72849263 72849263 A C rs759987778 ANKRA2 Nonsynonymous SNV M285R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 187892 chr8 99039720 99039720 C T rs752968585 MATN2 Synonymous SNV V632V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 14.62 187893 chr5 7826838 7826838 G A rs759926718 ADCY2 Nonsynonymous SNV E1044K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 187894 chr3 120121656 120121656 G A rs139355917 FSTL1 Synonymous SNV D268D 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.174 187895 chr9 113170610 113170610 G A rs1043627052 SVEP1 Nonsynonymous SNV P2424S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.262 187896 chr9 114133914 114133914 G A rs141635106 ECPAS Nonsynonymous SNV T1575M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 187897 chr3 42727540 42727540 G C rs374038735 KLHL40 Nonsynonymous SNV D144H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 187898 chr1 76387855 76387855 A T rs759092475 ASB17 Nonsynonymous SNV D197E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.578 187899 chr12 104042507 104042507 G A rs200157294 STAB2 Synonymous SNV T360T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.311 187900 chr3 43074718 43074718 G A GASK1A Synonymous SNV K321K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 187901 chr2 179639870 179639870 T C TTN Nonsynonymous SNV T2144A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.49 187902 chr9 117031573 117031573 G A rs374160108 COL27A1 Nonsynonymous SNV R1185Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 187903 chr15 101718877 101718877 T C rs781308181 CHSY1 Synonymous SNV E375E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.225 187904 chr5 9190403 9190403 C T rs201120126 SEMA5A Nonsynonymous SNV V417I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 187905 chr5 93798148 93798148 A G KIAA0825 Synonymous SNV C730C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.35 187906 chr9 117428929 117428929 C T rs746084773 TEX48 Synonymous SNV R119R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.074 187907 chr1 1022946 1022946 G A rs989578255 C1orf159 Synonymous SNV S60S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 7.992 187908 chr5 94834116 94834116 C A rs149287861 TTC37 Nonsynonymous SNV R1174L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 187909 chr16 601569 601569 C T rs147419136 CAPN15 Synonymous SNV D750D 0 0.005 0 0 0 2 0 0 0 1 0 0 16.12 187910 chr12 111894043 111894043 G A ATXN2 Synonymous SNV A871A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 187911 chr9 119160918 119160918 G A rs117988173 PAPPA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.079 187912 chr1 87805230 87805230 A G rs757648423 LMO4 Nonsynonymous SNV N83S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.33 187913 chr22 22869626 22869626 G C rs144599536 ZNF280A Nonsynonymous SNV S110W 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.1 187914 chr16 1402117 1402117 G C rs547624231 GNPTG Nonsynonymous SNV G23R 0.002 0.008 0 0 2 3 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 8.968 187915 chr3 48955684 48955684 T C rs767359349 ARIH2OS 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.397 187916 chr6 107100220 107100220 A G rs144191952 QRSL1 Nonsynonymous SNV I232V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 187917 chr3 130095292 130095292 C T COL6A5 Synonymous SNV L94L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.117 187918 chr9 125872898 125872898 G A rs3824534 MIR600HG 0 0 0.017 0 0 0 0 5 0 0 0 0 2.681 187919 chr2 200684250 200684250 - A FTCDNL1 *148delinsLNLRSPL* 0.001 0 0 0 1 0 0 0 0 0 0 0 187920 chr2 200684439 200684439 C T rs61751881 FTCDNL1 Nonsynonymous SNV V85M 0.007 0.013 0 2 8 5 0.005 0 0 0 0 0 13.98 187921 chr16 2012598 2012598 G A rs112659495 RPS2 Synonymous SNV G203G 0.003 0.01 0 0 3 4 0 0 0 1 0 0 11.21 187922 chr2 201437954 201437954 A G rs199710978 SGO2 Nonsynonymous SNV Y962C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.008 187923 chr1 112106495 112106495 G A rs369653049 TMIGD3 Nonsynonymous SNV T27I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.908 187924 chr3 52524847 52524847 C T rs574046395 NISCH Nonsynonymous SNV T1247M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 187925 chr12 122399945 122399945 C T rs372256590 WDR66 Nonsynonymous SNV T790I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.032 187926 chr9 131700051 131700051 G A rs190589766 PHYHD1 Nonsynonymous SNV G130S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.99 187927 chr12 124297903 124297903 C T rs118146260 DNAH10 Nonsynonymous SNV R995W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 31 187928 chr3 56041263 56041263 T C ERC2 Nonsynonymous SNV I669M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.9 187929 chr9 131811693 131811693 G T rs150751770 MIGA2 Nonsynonymous SNV A152S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 22.7 187930 chr20 1286677 1286677 G A rs61747127 SNPH Synonymous SNV A488A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.089 187931 chr20 1299014 1299014 A T rs61735059 SDCBP2 Nonsynonymous SNV L58H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 187932 chr3 139279992 139279992 G A NMNAT3 Stop gain R118X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 187933 chr3 58121786 58121786 G A FLNB Synonymous SNV K1584K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.75 187934 chr9 133760677 133760677 C T rs1056169 ABL1 Synonymous SNV T1000T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.483 187935 chr9 133799758 133799758 A G FIBCD1 Nonsynonymous SNV M193T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 187936 chr9 133952707 133952707 T C LAMC3 Nonsynonymous SNV S1255P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.224 187937 chr12 129308107 129308107 T C rs1000939977 SLC15A4 Nonsynonymous SNV T128A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 187938 chr6 129691120 129691120 C T rs111632017 LAMA2 Synonymous SNV N1648N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.345 187939 chr16 11001797 11001797 C T rs112250421 CIITA Synonymous SNV A816A 0 0.008 0 0 0 3 0 0 0 0 0 0 Benign/Likely benign 9.146 187940 chr12 132210050 132210050 G A rs369584290 SFSWAP Nonsynonymous SNV R236Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 187941 chr2 212289001 212289001 G A rs75536447 ERBB4 Synonymous SNV T915T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.86 187942 chr12 132549287 132549287 G A rs368496363 EP400 Synonymous SNV A2803A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 187943 chr6 131917268 131917268 C T rs145230681 MED23 Synonymous SNV A938A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 11.12 187944 chr9 135930164 135930164 C T rs759593240 GTF3C5 Nonsynonymous SNV R205W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.2 187945 chr2 216289015 216289015 C T rs140926439 FN1 Nonsynonymous SNV G357E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 187946 chr16 15706430 15706430 A G rs770083686 MARF1 Nonsynonymous SNV V1153A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28 187947 chr16 15771723 15771723 G A rs779987698 NDE1 Synonymous SNV A101A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.56 187948 chr6 13644782 13644782 T C rs142216820 RANBP9 Nonsynonymous SNV I369M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 187949 chr6 139048556 139048556 G A rs749713680 GVQW2 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.264 187950 chr6 143749615 143749615 T A rs61737651 ADAT2 Nonsynonymous SNV E140D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 187951 chr2 219610890 219610890 G C TTLL4 Nonsynonymous SNV W637S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 187952 chr3 160135620 160135620 C T SMC4 Nonsynonymous SNV A516V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 187953 chr9 139233117 139233117 G A rs138967283 GPSM1 Synonymous SNV A308A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.2 187954 chr9 13928011 13928011 T G rs2382426 LINC00583 0 0 0.048 0 0 0 0 14 0 0 4 0 0.066 187955 chr13 28130540 28130540 T C rs139218014 LNX2 Nonsynonymous SNV Q460R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.31 187956 chr16 24918352 24918352 G A rs150379174 SLC5A11 Nonsynonymous SNV R304H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 187957 chr9 139697232 139697367 GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG - CCDC183 V221Gfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 187958 chr3 178546108 178546108 G A rs201338193 KCNMB2 Nonsynonymous SNV G124R 0.002 0 0 0 2 0 0 0 0 0 0 0 34 187959 chr16 27353540 27353540 G A rs200293983 IL4R Nonsynonymous SNV E57K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 187960 chr16 27499592 27499592 C T rs201935197 GTF3C1 Nonsynonymous SNV R1219Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 187961 chr13 32893369 32893369 G C rs28897701 BRCA2 Nonsynonymous SNV A75P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.8 187962 chr4 110791526 110791526 A G rs35997283 LRIT3 Nonsynonymous SNV I541V 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 23.8 187963 chr1 155007016 155007016 C T DCST1 Nonsynonymous SNV A56V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.95 187964 chr6 15497053 15497053 G A rs372890344 JARID2 Nonsynonymous SNV V361M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 187965 chr1 155265230 155265230 C A rs199824528 PKLR Nonsynonymous SNV G169W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 33 187966 chr6 155569311 155569311 C T rs373449587 TIAM2 Nonsynonymous SNV T202M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 187967 chr6 157527493 157527495 GAC - rs113820273 ARID1B D1031del 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 187968 chr2 232665857 232665857 G C rs544909978 COPS7B Nonsynonymous SNV C215S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.104 187969 chr4 121742443 121742443 G A PRDM5 Synonymous SNV L120L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 187970 chr2 233633340 233633340 C G rs940166965 KCNJ13 Nonsynonymous SNV G135A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.824 187971 chr2 233655432 233655432 G A GIGYF2 Nonsynonymous SNV R240Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 187972 chr2 234399835 234399835 G A rs562879098 USP40 Nonsynonymous SNV T996M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 187973 chr16 53721832 53721832 A T RPGRIP1L Nonsynonymous SNV M192K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.04 187974 chr4 126239839 126239839 C T rs570502199 FAT4 Nonsynonymous SNV A758V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 187975 chr16 55907769 55907769 C T rs370475213 CES5A Nonsynonymous SNV R85Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 187976 chr3 195486102 195486102 C T rs146834399 MUC4 Nonsynonymous SNV R673H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.974 187977 chr6 166827330 166827331 CT - RPS6KA2 E578Vfs*88 0.001 0 0 0 1 0 0 0 0 0 0 0 187978 chr13 76378527 76378527 C T rs375314137 LMO7 Nonsynonymous SNV A22V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 187979 chr4 138451326 138451326 A G rs894253834 PCDH18 Synonymous SNV H639H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.961 187980 chr13 77740577 77740577 T C rs111642157 MYCBP2 Nonsynonymous SNV N2076S 0.002 0 0.014 0 2 0 0 4 0 0 0 0 5.546 187981 chr9 36037018 36037018 T C rs557893747 RECK Nonsynonymous SNV L8P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 0.786 187982 chr9 36052305 36052305 T C rs58611653 RECK Synonymous SNV R48R 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 5.041 187983 chr16 58710211 58710211 G A rs143592970 SLC38A7 Synonymous SNV T250T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 187984 chr16 66429973 66429973 G A rs139755397 CDH5 Nonsynonymous SNV R410H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 187985 chr13 98671898 98671898 A G IPO5 Nonsynonymous SNV N967S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.13 187986 chr16 67876516 67876516 C A THAP11 Nonsynonymous SNV A20E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.943 187987 chr9 5769105 5769105 T C rs61739362 RIC1 Synonymous SNV I1054I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.598 187988 chr13 101184669 101184669 C T rs531363768 GGACT Synonymous SNV S59S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.04 187989 chr2 24199858 24199858 T G rs199896975 UBXN2A Stop gain L67X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 187990 chr9 71080024 71080024 G A rs782118501 PGM5 Nonsynonymous SNV M353I 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 187991 chr6 17794824 17794824 T C KIF13A Synonymous SNV G1018G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.795 187992 chr1 159842929 159842929 C G CFAP45 Nonsynonymous SNV R461P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 27.2 187993 chr2 115464705 115464705 G A DPP10 Nonsynonymous SNV C22Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.724 187994 chr2 11767146 11767146 G A rs756875360 GREB1 Nonsynonymous SNV M1455I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 187995 chr2 242794117 242794117 C T rs773349951 PDCD1 Nonsynonymous SNV R204H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.35 187996 chr16 72991627 72991627 G A rs764346669 ZFHX3 Synonymous SNV C806C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.031 187997 chr16 74530408 74530408 C T rs530282832 GLG1 Synonymous SNV S292S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 187998 chr3 40503523 40503523 - CTGCTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAAA 0.002 0 0 0 2 0 0 0 0 0 0 0 187999 chr9 90584199 90584199 C T rs376249984 CDK20 Nonsynonymous SNV R189K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 188000 chr9 95040524 95040524 A G rs201992087 IARS Nonsynonymous SNV S264P 0 0 0.007 0 0 0 0 2 0 0 0 0 15.68 188001 chr3 42775098 42775098 G A rs140575748 CCDC13 Nonsynonymous SNV L459F 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 188002 chr9 95599784 95599784 T G rs536927928 ANKRD19P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.207 188003 chr9 95599827 95599827 C T ANKRD19P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.115 188004 chr3 42916810 42916810 C A CYP8B1 Nonsynonymous SNV D167Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 188005 chr1 169394057 169394057 T C rs149997629 CCDC181 Nonsynonymous SNV I37V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.364 188006 chr9 97873874 97873874 G A rs767215159 FANCC Synonymous SNV F400F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.015 188007 chrX 10491202 10491202 T C rs202082858 MID1 Nonsynonymous SNV N229S 0 0 0.01 0 0 0 0 3 0 0 1 0 6.057 188008 chr2 37456103 37456105 TCA - rs572135898 CEBPZ D78del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 188009 chr1 173486698 173486698 A G rs373428010 SLC9C2 Nonsynonymous SNV V962A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.035 188010 chr6 33690688 33690688 C T rs539948572 IP6K3 Nonsynonymous SNV A348T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.615 188011 chrX 129283465 129283465 G T AIFM1 Nonsynonymous SNV Q110K 0 0 0.007 0 0 0 0 2 0 0 1 0 11.39 188012 chr2 157368740 157368740 G A rs141392427 GPD2 Nonsynonymous SNV M136I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 188013 chr4 187510258 187510258 C T rs201847759 FAT1 Nonsynonymous SNV A4419T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 188014 chr3 47452035 47452035 A G rs770692989 PTPN23 Nonsynonymous SNV Q790R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.024 188015 chr20 68363 68363 A C DEFB125 Nonsynonymous SNV M5L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 188016 chr2 44554034 44554034 A G rs369994505 PREPL Synonymous SNV A459A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.823 188017 chrX 147744112 147744112 C T rs782802279 AFF2 Synonymous SNV Y284Y 0 0 0.007 0 0 0 0 2 0 0 1 0 5.874 188018 chrX 148037970 148037970 A G rs782610217 AFF2 Nonsynonymous SNV K440E 0 0 0.007 0 0 0 0 2 0 0 1 0 25.4 188019 chr3 49150041 49150041 G A rs370054193 USP19 Nonsynonymous SNV R727C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 188020 chr3 48493275 48493275 C G rs141432992 ATRIP Synonymous SNV L81L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 188021 chr3 48603979 48603979 G A rs142948995 COL7A1 Synonymous SNV A2774A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.624 188022 chr3 48694529 48694529 G T rs147971075 CELSR3 Nonsynonymous SNV A1334D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 188023 chr16 88782026 88782026 C G rs774268616 PIEZO1 Nonsynonymous SNV R2518P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 31 188024 chr3 50147061 50147061 G A rs116604207 RBM5 Synonymous SNV A406A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.14 188025 chr14 23790864 23790864 G A rs188436762 PABPN1 Synonymous SNV L62L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 19.14 188026 chr3 49830392 49830392 G A rs746748949 CDHR4 Synonymous SNV A630A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.613 188027 chr14 24003364 24003364 G T ZFHX2 Nonsynonymous SNV Q391K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 188028 chr2 60689441 60689441 T C rs61749494 BCL11A Synonymous SNV E168E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.051 188029 chr21 30949317 30949317 C T rs568601127 GRIK1 Synonymous SNV A560A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 14.27 188030 chr2 61417503 61417503 C T rs202195477 USP34 Nonsynonymous SNV S3259N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.7 188031 chr3 51669728 51669728 C T rs138600830 RAD54L2 Nonsynonymous SNV P421L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 188032 chr14 24647872 24647872 A C REC8 Nonsynonymous SNV T352P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 188033 chr3 52556127 52556127 A G rs148915659 STAB1 Nonsynonymous SNV T2116A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 188034 chr4 3257463 3257463 G A MSANTD1 Nonsynonymous SNV R203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 188035 chrX 21581438 21581438 A G rs762263069 CNKSR2 Synonymous SNV T413T 0 0 0.007 0 0 0 0 2 0 0 1 0 0.624 188036 chr3 52567539 52567539 A T NT5DC2 Nonsynonymous SNV M72K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 188037 chr14 24780751 24780751 A G rs199950899 LTB4R2 Nonsynonymous SNV D294G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.24 188038 chr16 89357573 89357573 C T rs779534634 ANKRD11 Nonsynonymous SNV R82Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 188039 chr2 69472517 69472517 C T rs757843540 ANTXR1 Nonsynonymous SNV P532L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 188040 chr16 89862388 89862388 A G rs75501942 FANCA Nonsynonymous SNV I311T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 1.007 188041 chr2 175202185 175202205 GCGGCGGCGGCGGCAGCGGCG - rs767151085 SP9 A464_A470del 0.001 0 0 0 1 0 0 0 0 0 0 0 188042 chrX 44703795 44703795 C T DUSP21 Synonymous SNV R139R 0.001 0 0.007 0 1 0 0 2 0 0 1 0 14.62 188043 chr14 31576151 31576151 T A rs757923063 HECTD1 Nonsynonymous SNV E2309D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 188044 chr14 31576152 31576152 T C rs779631192 HECTD1 Nonsynonymous SNV E2309G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 188045 chr14 31675050 31675050 T C rs750153385 HECTD1 Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.548 188046 chr2 178528608 178528608 T C rs74357545 PDE11A Nonsynonymous SNV M434V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 14.75 188047 chr2 71883296 71883296 A G rs757820496 DYSF Nonsynonymous SNV Y1491C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.6 188048 chr3 57322249 57322249 C T rs763375126 ASB14 Nonsynonymous SNV G82S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188049 chr6 43153915 43153915 G A rs749851704 CUL9 Nonsynonymous SNV E325K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 188050 chr3 57640401 57640401 A G rs927408842 PDE12 Nonsynonymous SNV I480V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.84 188051 chr14 34419747 34419747 C T rs34347250 EGLN3 Nonsynonymous SNV R71Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23 188052 chrX 70465848 70465848 C T rs36099228 ZMYM3 Synonymous SNV S879S 0 0 0.007 0 0 0 0 2 0 0 1 0 11.59 188053 chrX 70823575 70823604 GACGACAACAGTGATGATTCGGAAGCTCCT - rs764159720 GCNA E177_S186del 0 0 0.007 0 0 0 0 2 0 0 1 0 188054 chrX 71264437 71264437 C T rs184197638 RPS26P11 0 0 0.007 0 0 0 0 2 0 0 1 0 10.15 188055 chrX 71428051 71428051 T C rs142549919 ERCC6L Nonsynonymous SNV N189S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.001 188056 chr3 63898360 63898360 - GCA rs576518931 ATXN7 Q39_P40insQ 0.001 0 0.007 0 1 0 0 2 0 0 0 0 188057 chrX 73043660 73043660 G - rs201836793 TSIX, XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 188058 chrX 73047569 73047569 C T rs73486505 TSIX, XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 14.24 188059 chrX 73047927 73047927 A - rs199953543 TSIX 0 0 0.007 0 0 0 0 2 0 0 1 0 188060 chrX 73062455 73062455 A G rs112769630 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 4.031 188061 chr4 48140724 48140724 C T rs144378805 TEC Synonymous SNV A590A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 188062 chrX 73062468 73062468 T C rs112527404 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 2.102 188063 chrX 73062661 73062661 A G rs61741568 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 1.19 188064 chrX 73067496 73067496 T C rs11553101 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 4.96 188065 chrX 73068431 73068431 A C rs73486576 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 12.44 188066 chrX 73070250 73070250 C T rs113875722 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 15.54 188067 chr6 46656168 46656168 G A TDRD6 Synonymous SNV E101E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.508 188068 chr4 55138608 55138608 G A rs150577828 PDGFRA Nonsynonymous SNV G429R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.55 188069 chr4 55161325 55161325 G A rs55996208 PDGFRA Synonymous SNV T1052T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 11.49 188070 chr14 45432477 45432477 G C TOGARAM1 Nonsynonymous SNV E285Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 188071 chr14 47120311 47120311 C T RPL10L Nonsynonymous SNV R210Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 188072 chr3 97851871 97851871 G T rs113686881 OR5H1 Synonymous SNV T110T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.193 188073 chr10 102255206 102255206 A T SEC31B Nonsynonymous SNV V803E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 188074 chr6 51512889 51512889 G A rs41273722 PKHD1 Nonsynonymous SNV P3780S 0.006 0.005 0.01 1 7 2 0.003 3 0 0 0 0 Likely benign 23.7 188075 chr6 51882330 51882330 C T rs137925439 PKHD1 Synonymous SNV A1826A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.77 188076 chr10 102762456 102762456 C T LZTS2 Nonsynonymous SNV T54I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 188077 chr14 52493997 52493997 G A rs144461334 NID2 Nonsynonymous SNV R866W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.4 188078 chr14 53162089 53162089 G A rs140248666 ERO1A Synonymous SNV C37C 0.003 0 0 0 3 0 0 0 0 0 0 0 6.303 188079 chr3 100354621 100354621 C T rs190503505 ADGRG7 Nonsynonymous SNV T183M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 188080 chr17 4692844 4692844 G A rs368844489 GLTPD2 Synonymous SNV R70R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.796 188081 chr6 56342280 56342280 T C rs200006386 DST Nonsynonymous SNV M4557V 0.004 0 0 0 5 0 0 0 0 0 0 0 26.3 188082 chr3 101051640 101051640 A G rs200749708 SENP7 Synonymous SNV D685D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.579 188083 chr6 56504350 56504350 C T rs376863860 DST Synonymous SNV A382A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.2 188084 chr4 70707757 70707757 C T rs751200332 SULT1E1 Synonymous SNV E280E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 188085 chr6 6225004 6225004 G A rs778181928 F13A1 Synonymous SNV S296S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 188086 chr17 4721302 4721302 G T rs755100012 PLD2 Nonsynonymous SNV L607F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 188087 chr10 111642249 111642249 T C XPNPEP1 Nonsynonymous SNV R214G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 188088 chr17 5404216 5404216 C G LOC728392 Nonsynonymous SNV E21Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 188089 chr2 201677182 201677182 C T rs576867353 BZW1 Nonsynonymous SNV R18C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.9 188090 chr4 104007682 104007682 A G rs146068384 BDH2 Nonsynonymous SNV S125P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.8 188091 chr4 101947199 101947199 T C rs200900879 PPP3CA Synonymous SNV P411P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 188092 chr14 62550928 62550928 G A rs371495113 SYT16 Synonymous SNV P302P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.79 188093 chr6 7379149 7379149 C A rs183206380 CAGE1 Nonsynonymous SNV V130L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 188094 chr17 6913633 6913633 G A rs141201316 ALOX12 Nonsynonymous SNV R628Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 188095 chr10 118609160 118609160 G - rs368456269 ENO4 E29Rfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 188096 chr4 113540414 113540414 C T rs150615137 ZGRF1 Nonsynonymous SNV E262K 0.003 0.013 0.003 1 4 5 0.003 1 0 0 0 0 0.101 188097 chr2 207834060 207834060 A G CPO Nonsynonymous SNV D342G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.1 188098 chr3 113672799 113672799 C A rs148932231 ZDHHC23 Synonymous SNV T138T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.01 188099 chr3 113784251 113784251 G A rs755776974 QTRT2 Synonymous SNV T61T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.55 188100 chr4 8235107 8235107 T C rs748768261 SH3TC1 Nonsynonymous SNV L974P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 188101 chr17 8046067 8046067 G A rs148594937 PER1 Synonymous SNV S1053S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.58 188102 chr2 210690681 210690681 C T rs367953994 UNC80 Synonymous SNV I794I 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 12.22 188103 chr4 1343335 1343335 G A rs770306039 UVSSA Nonsynonymous SNV R41H 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 0.042 188104 chr4 91234118 91234118 C T rs142352144 CCSER1 Nonsynonymous SNV P477S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.2 188105 chr17 11886660 11886660 T C ZNF18 Synonymous SNV G272G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.131 188106 chr22 24939982 24939982 C T rs62231931 GUCD1 Synonymous SNV S208S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 7.193 188107 chr17 17722973 17722973 G A rs114001633 SREBF1 Nonsynonymous SNV P173L 0.007 0.008 0 0 8 3 0 0 0 0 0 0 Likely benign 10.23 188108 chr4 15005758 15005758 C T rs769422615 CPEB2 Synonymous SNV G487G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.16 188109 chr3 12618231 12618232 AG - rs751297306 MKRN2 Q277Rfs*8 0.001 0 0 1 1 0 0.003 0 0 0 0 0 188110 chr17 19470473 19470473 T C rs374200449 SLC47A1 Nonsynonymous SNV I414T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.37 188111 chr14 91805801 91805801 G A rs781071704 CCDC88C Synonymous SNV I210I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 188112 chr14 92959900 92959900 G A SLC24A4 Synonymous SNV L599L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 188113 chr5 112178419 112178419 G C rs762167924 APC Nonsynonymous SNV Q2358H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.4 188114 chr2 224845044 224845044 T C rs61761889 SERPINE2 Synonymous SNV K352K 0.002 0.01 0 0 2 4 0 0 0 0 0 0 8.021 188115 chr1 228112064 228112064 C T rs150203238 WNT9A Synonymous SNV S130S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.56 188116 chr17 27946699 27946699 G A rs372494637 CORO6 Synonymous SNV I97I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.85 188117 chr3 140692621 140692621 A T rs75098983 SLC25A36 Synonymous SNV G172G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.023 188118 chr22 39262501 39262501 G A CBX6 Nonsynonymous SNV P300S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.08 188119 chr5 137515523 137515523 G C KIF20A Nonsynonymous SNV D52H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 188120 chr10 50315772 50315772 C T rs200781814 VSTM4 Synonymous SNV A108A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.535 188121 chr15 25940151 25940151 C T rs150976669 ATP10A Nonsynonymous SNV R968H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 188122 chr5 139938337 139938337 G A rs143692635 APBB3 Nonsynonymous SNV R439C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.8 188123 chr4 2306130 2306130 G A rs772852130 ZFYVE28 Nonsynonymous SNV A616V 0.007 0.003 0 2 8 1 0.005 0 0 0 0 0 18.48 188124 chr7 11871421 11871421 C T rs746359267 THSD7A Nonsynonymous SNV G51D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.848 188125 chr5 140049180 140049180 G A rs149462511 WDR55 Nonsynonymous SNV E365K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 188126 chr7 121636589 121636589 A G rs146755280 PTPRZ1 Nonsynonymous SNV H361R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 188127 chr7 121651550 121651550 C T rs147984224 PTPRZ1 Nonsynonymous SNV A817V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 188128 chr15 31235257 31235257 T C MTMR10 Nonsynonymous SNV N523D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 188129 chr4 25408838 25408838 - A ANAPC4 Frameshift insertion G468Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 188130 chr15 34130496 34130496 C T RYR3 Synonymous SNV S4100S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.493 188131 chr10 63188795 63188795 A G rs200406875 TMEM26 Nonsynonymous SNV I165T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 188132 chr1 241755386 241755386 G A rs75784108 KMO Synonymous SNV R464R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.735 188133 chr7 126882902 126882902 G A rs769200 GRM8 Synonymous SNV F119F 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 Benign 6.49 188134 chr22 46751950 46751950 G A rs780314819 TRMU Nonsynonymous SNV R247H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 188135 chr4 38053634 38053634 A G TBC1D1 Synonymous SNV L675L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 20.7 188136 chr5 145613200 145613200 - CCAGGC RBM27 G358_H359insPG 0.001 0 0 0 1 0 0 0 0 0 0 0 188137 chr10 73053281 73053281 G A rs142079000 UNC5B Nonsynonymous SNV R620H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 188138 chr3 179399665 179399665 G T USP13 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.8 188139 chr7 138333859 138333859 C G rs542951871 SVOPL Synonymous SNV L34L 0.001 0 0 0 1 0 0 0 0 0 0 0 12 188140 chr4 48492863 48492863 G A rs377660065 ZAR1 Synonymous SNV L185L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.294 188141 chr4 48496243 48496243 C G rs150750718 ZAR1 Nonsynonymous SNV S419R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 188142 chr5 149406357 149406357 A G rs753629527 HMGXB3 Nonsynonymous SNV M351V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.202 188143 chr4 56883879 56883881 AGA - rs750644298 CEP135 E959del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 188144 chr10 78711817 78711817 G C KCNMA1 Nonsynonymous SNV A804G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.222 188145 chr17 40996995 40996995 C T rs200726584 AOC2 Nonsynonymous SNV R118W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 188146 chr5 149784658 149784658 A G rs72805941 CD74 Nonsynonymous SNV I155T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.56 188147 chr5 149998328 149998328 A G SYNPO Synonymous SNV P133P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 188148 chr17 42254377 42254377 G A rs975153669 ASB16 Nonsynonymous SNV G281R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 188149 chr7 148769173 148769173 A T rs188243675 ZNF786 Nonsynonymous SNV W231R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 188150 chr3 186917258 186917258 A C rs117691254 LOC101929106 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.497 188151 chr2 111408141 111408141 C G BUB1 Nonsynonymous SNV G709R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.751 188152 chr17 42395533 42395533 T C rs997791209 RUNDC3A Nonsynonymous SNV L423P 0 0.005 0 0 0 2 0 0 0 0 0 0 28.4 188153 chr1 2524288 2524288 A G MMEL1 Nonsynonymous SNV L662P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.1 188154 chr10 91597919 91597919 T G rs3740042 LINC00865 0 0 0.014 0 0 0 0 4 0 0 0 0 5.583 188155 chr7 150034099 150034099 G A LRRC61 Nonsynonymous SNV G50E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 188156 chr10 96269925 96269925 A T rs376682556 TBC1D12 Nonsynonymous SNV I560F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 188157 chr4 71659529 71659529 A G rs369468326 RUFY3 Synonymous SNV Q455Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.873 188158 chr7 150753871 150753871 G T rs775274881 CDK5 Synonymous SNV V69V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.112 188159 chr7 151845190 151845190 G A rs764910946 KMT2C Nonsynonymous SNV R4608C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 188160 chr17 47895359 47895359 C A KAT7 Nonsynonymous SNV L212I 0 0.003 0 0 0 1 0 0 0 0 0 0 27 188161 chr15 63097975 63097975 G A rs140753187 TLN2 Synonymous SNV T2218T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 188162 chr7 154767799 154767799 A G rs61752016 PAXIP1 Synonymous SNV S227S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.174 188163 chr15 63889602 63889602 T A rs143466490 FBXL22 Nonsynonymous SNV L4Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.443 188164 chr17 48542714 48542714 G T rs144030994 CHAD Nonsynonymous SNV A342D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 28.8 188165 chr4 77230783 77230783 G - rs756054965 STBD1 R236Kfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 188166 chr4 77230784 77230784 A C rs751482778 STBD1 Nonsynonymous SNV R236S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 188167 chr4 78085544 78085544 C A rs747979305 CCNG2 Nonsynonymous SNV R275S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 188168 chr1 33944991 33944991 C G rs41265899 ZSCAN20 Synonymous SNV S34S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.16 188169 chr1 36020012 36020012 C A KIAA0319L Nonsynonymous SNV W27C 0 0 0 2 0 0 0.005 0 0 0 0 0 19.74 188170 chr17 59465980 59465980 - A rs777924897 BCAS3 Frameshift insertion G891Rfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 188171 chr2 152276851 152276851 A G rs147731919 RIF1 Synonymous SNV K217K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.086 188172 chr17 61615463 61615463 G C rs377548867 KCNH6 Synonymous SNV A513A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.05 188173 chr7 23313823 23313823 G T rs11537976 GPNMB Stop gain E567X 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 36 188174 chr4 88036017 88036017 A C rs200738066 AFF1 Nonsynonymous SNV K309Q 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.3 188175 chr2 158177847 158177847 C T rs143517901 ERMN Nonsynonymous SNV R244Q 0.002 0 0 0 2 0 0 0 0 0 0 0 33 188176 chr15 76496403 76496403 C T rs368038771 TMEM266 Nonsynonymous SNV S448L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 188177 chr7 27204880 27204880 G A HOXA9 Nonsynonymous SNV S66L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 188178 chr15 81224374 81224374 C T rs115866577 CEMIP Synonymous SNV D929D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.29 188179 chr2 166847987 166847987 C T rs556893466 SCN1A Nonsynonymous SNV R1933Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 188180 chr17 71282125 71282125 G C CDC42EP4 Nonsynonymous SNV P172R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.017 188181 chr17 71354307 71354307 C T rs762478016 SDK2 Nonsynonymous SNV R1835Q 0 0.005 0 0 0 2 0 0 0 0 0 0 34 188182 chr1 46072257 46072257 A G rs138585290 NASP Nonsynonymous SNV I71V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.043 188183 chr5 38932025 38932025 C T rs148397724 OSMR Synonymous SNV C751C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 188184 chr2 96803383 96803383 A G rs763968139 ASTL Nonsynonymous SNV F38L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.46 188185 chr11 116631561 116631561 T G rs148467711 BUD13 Synonymous SNV R248R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.825 188186 chr2 97270058 97270058 C T rs201670982 KANSL3 Nonsynonymous SNV S491N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.1 188187 chr1 48705004 48705004 G - rs777247762 SLC5A9 G492Afs*13 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 188188 chr2 98373826 98373826 G A rs189771808 TMEM131 Synonymous SNV S1796S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.47 188189 chr5 476334 476334 C T SLC9A3 Nonsynonymous SNV E675K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 188190 chr1 53420428 53420428 C T rs202234745 SCP2 Synonymous SNV V72V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.76 188191 chr3 10301844 10301844 T C rs552586975 TATDN2 Synonymous SNV H146H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.04 188192 chr15 90196025 90196025 C T rs959891471 KIF7 Nonsynonymous SNV R46H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 188193 chr17 74157704 74157704 C T rs371381620 RNF157 Nonsynonymous SNV R326Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 188194 chr5 56174822 56174822 A G MAP3K1 Nonsynonymous SNV M661V 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 188195 chr11 122666977 122666977 T C rs140678076 UBASH3B Synonymous SNV D374D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.033 188196 chr1 55277832 55277832 G A rs986655505 LEXM Synonymous SNV K244K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.89 188197 chr5 131705943 131705943 G C rs377734902 SLC22A5 Synonymous SNV S93S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.02 188198 chr7 47944085 47944085 A G PKD1L1 Synonymous SNV S607S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.361 188199 chr17 74449091 74449091 C T rs773900014 UBE2O Nonsynonymous SNV G45R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 188200 chr15 93015640 93015640 C T C15orf32 0.001 0 0 0 1 0 0 0 0 0 0 0 35 188201 chr5 66461050 66461052 CTC - rs568806328 MAST4 L1755del 0.001 0 0 0 1 0 0 0 0 0 0 0 188202 chr7 4874537 4874537 G A rs755506529 RADIL Nonsynonymous SNV R373W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 188203 chr17 76045806 76045806 C T rs141190761 TNRC6C Synonymous SNV H221H 0.007 0.003 0.007 1 8 1 0.003 2 0 0 0 0 6.407 188204 chr3 113002345 113002345 C G rs138348732 BOC Nonsynonymous SNV P841R 0.003 0.01 0 0 3 4 0 0 0 0 0 0 23.1 188205 chr17 76047492 76047492 C T rs147882211 TNRC6C Synonymous SNV A783A 0.007 0.003 0.01 1 8 1 0.003 3 0 0 0 0 15.87 188206 chr17 76399778 76399778 C G rs371933509 PGS1 Nonsynonymous SNV A337G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 188207 chr15 101447478 101447478 G A rs140128387 ALDH1A3 Synonymous SNV T355T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.029 188208 chr7 5530965 5530965 C T rs775372581 FBXL18 Nonsynonymous SNV V633M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 188209 chr17 78064016 78064079 AACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAAC - CCDC40 G987Rfs*34 0 0.003 0 0 0 1 0 0 0 0 0 0 188210 chr7 64167759 64167759 A G rs373266873 ZNF107 Synonymous SNV K396K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.065 188211 chr11 1273682 1273682 G A rs142398575 MUC5B Synonymous SNV P4991P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.489 188212 chr11 128333512 128333512 T G ETS1 Synonymous SNV P118P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.793 188213 chr11 128556450 128556450 C T LOC101929538 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 188214 chr1 70621425 70621425 G A rs777888091 LRRC40 Synonymous SNV N425N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.971 188215 chr17 79225239 79225239 G A rs200011449 SLC38A10 Nonsynonymous SNV L707F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.6 188216 chr5 140811660 140811660 C A PCDHGA12 Nonsynonymous SNV T445N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.068 188217 chr16 1399586 1399586 C A rs140660894 TSR3 Nonsynonymous SNV S264I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 188218 chr16 1573569 1573569 C T rs774170824 IFT140 Nonsynonymous SNV E1135K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.57 188219 chr3 7503300 7503300 A G rs568892048 GRM7 Nonsynonymous SNV K469R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 188220 chr17 80543958 80543958 C T rs148659399 FOXK2 Synonymous SNV A486A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 188221 chr5 82648946 82648946 C G XRCC4 Nonsynonymous SNV S299C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 188222 chr3 124802882 124802882 G A SLC12A8 Nonsynonymous SNV P666L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 17.97 188223 chr3 9517647 9517647 C G SETD5 Nonsynonymous SNV Q1401E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 188224 chr16 2017281 2017281 G A rs748875173 RNF151 Nonsynonymous SNV G4R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 188225 chr5 148889463 148889463 C T rs377108745 CSNK1A1 Synonymous SNV T243T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 188226 chr3 98188581 98188581 G A rs372270718 OR5K1 Nonsynonymous SNV R54Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.009 188227 chr7 83119584 83119584 A G rs778519947 SEMA3E Nonsynonymous SNV L41S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.7 188228 chr7 86826021 86826021 G A rs765623504 TMEM243 Synonymous SNV Y96Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.413 188229 chr16 3026872 3026872 G A rs902348312 PKMYT1 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.729 188230 chr11 209603 209603 A C rs752383225 RIC8A Nonsynonymous SNV D110A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 188231 chr6 102134216 102134216 T C rs34360565 GRIK2 Synonymous SNV D313D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.23 188232 chr6 106899545 106899545 T C rs140460323 LOC105377924 0.001 0 0 0 1 0 0 0 0 0 0 0 5.527 188233 chr16 4625552 4625552 T A rs908217381 C16orf96 Nonsynonymous SNV S357R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 188234 chr5 154203080 154203080 C A FAXDC2 Nonsynonymous SNV V147L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.92 188235 chr11 3114185 3114185 G A rs577101378 OSBPL5 Nonsynonymous SNV R614C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 188236 chr18 21897114 21897114 G A rs149315820 OSBPL1A Nonsynonymous SNV T290M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 188237 chr7 99753382 99753382 G A MAP11 Nonsynonymous SNV T167M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 188238 chr16 11348706 11348706 C G rs11549428 SOCS1 Nonsynonymous SNV Q210H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 22.9 188239 chr1 93672876 93672876 G A CCDC18 Nonsynonymous SNV R377Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 188240 chr11 34937932 34937932 G T rs780153979 PDHX Nonsynonymous SNV G5V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 9.05 188241 chr1 94502906 94502906 C T rs146786552 ABCA4 Nonsynonymous SNV G1203E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.3 188242 chr1 94940699 94940699 A G rs753464068 ABCD3 Nonsynonymous SNV I136V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.66 188243 chr11 36596121 36596121 G A RAG1 Nonsynonymous SNV D423N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 188244 chr4 122734423 122734423 A G rs34457380 EXOSC9 Nonsynonymous SNV I288V 0.003 0 0 0 3 0 0 0 0 0 0 0 13.22 188245 chr18 33779893 33779893 C T rs149743314 MOCOS Nonsynonymous SNV R183C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.13 188246 chr5 176316668 176316668 C T rs112160979 HK3 Synonymous SNV P236P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.4 188247 chr4 126336865 126336865 A C rs370316723 FAT4 Synonymous SNV L2249L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 188248 chr6 12749973 12749973 C T rs199546311 PHACTR1 Synonymous SNV S67S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.7 188249 chr2 226447163 226447163 G A NYAP2 Nonsynonymous SNV V344M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 188250 chr16 24942328 24942328 C T rs79337633 ARHGAP17 Synonymous SNV P686P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.83 188251 chr16 24942472 24942472 C T rs77100209 ARHGAP17 Synonymous SNV P638P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.307 188252 chr16 24980078 24980078 C T rs75957421 ARHGAP17 Synonymous SNV T96T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.65 188253 chr11 46924398 46924398 G A LRP4 Synonymous SNV I45I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 188254 chr18 55322594 55322594 C A ATP8B1 Synonymous SNV S871S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.54 188255 chr3 169514084 169514084 C A LRRC34 Nonsynonymous SNV D296Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 188256 chr16 30004800 30004800 G A rs35431046 HIRIP3 Nonsynonymous SNV A496V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 188257 chr8 127568857 127568857 T A rs148176598 LRATD2 Nonsynonymous SNV I260F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 188258 chr20 3027301 3027301 G T rs778575611 MRPS26 Nonsynonymous SNV R134L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.603 188259 chr20 307241 307249 GAGGAGCCG - rs147752920 SOX12 P227_E229del 0 0 0 1 0 0 0.003 0 0 0 0 0 188260 chr5 179225382 179225382 C T rs748599210 MGAT4B Nonsynonymous SNV R507Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 188261 chr18 61654375 61654375 G A rs140176524 SERPINB8 Nonsynonymous SNV A150T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 188262 chr18 65178436 65178436 G C DSEL Nonsynonymous SNV T1137S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 188263 chr5 37122564 37122564 C A rs924779439 CPLANE1 Nonsynonymous SNV R2941S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 188264 chr2 234879010 234879010 C A rs201204922 TRPM8 Nonsynonymous SNV H765Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.383 188265 chr18 72020544 72020544 G A rs138122725 C18orf63 Nonsynonymous SNV A348T 0.002 0.01 0 0 2 4 0 0 0 0 0 0 10.44 188266 chr20 3211580 3211580 G A rs78274653 SLC4A11 Synonymous SNV I405I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.968 188267 chr2 237233383 237233383 G A rs758032787 IQCA1 Nonsynonymous SNV A765V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 188268 chr3 184094107 184094107 C T THPO Nonsynonymous SNV E121K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 188269 chr20 330317 330317 C T rs34210936 NRSN2 Synonymous SNV S10S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 4.632 188270 chr3 186383945 186383945 G A rs114895145 HRG Nonsynonymous SNV R42Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 31 188271 chr19 327983 327983 C T rs927421821 MIER2 Nonsynonymous SNV D48N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 188272 chr20 3452041 3452041 C T rs75653676 ATRN Nonsynonymous SNV A96V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25 188273 chr4 184020740 184020740 C T WWC2 Synonymous SNV N32N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.097 188274 chr20 3650206 3650206 C T rs150692069 ADAM33 Synonymous SNV Q747Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.32 188275 chr2 241500143 241500143 C T rs747476568 DUSP28 Synonymous SNV P14P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 188276 chr6 159184401 159184401 G A SYTL3 Nonsynonymous SNV C322Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 188277 chr8 144657672 144657672 T C rs761133109 NAPRT Synonymous SNV P377P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.249 188278 chr11 55541495 55541495 C T OR5D13 Synonymous SNV P194P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.921 188279 chr19 1008150 1008150 G A rs369547465 GRIN3B Nonsynonymous SNV G776R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 188280 chr4 186536055 186536055 C T SORBS2 Nonsynonymous SNV G842E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 188281 chr6 161505577 161505577 A G rs139355462 MAP3K4 Nonsynonymous SNV E767G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.05 188282 chr3 19940306 19940306 A G rs766584565 EFHB Nonsynonymous SNV C512R 0.003 0 0 0 4 0 0 0 0 0 0 0 17.07 188283 chr19 1924174 1924174 C T rs746114708 SCAMP4 Nonsynonymous SNV T150I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.193 188284 chr4 2698169 2698169 A G rs1031842159 FAM193A Nonsynonymous SNV E828G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 188285 chr6 170070759 170070759 G T rs201671423 WDR27 Stop gain S121X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 188286 chr6 170871054 170871076 AGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAG TBP Q57Hfs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 188287 chr16 75485566 75485566 C - rs749349392 TMEM170A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 188288 chr2 27440796 27440796 A G CAD Nonsynonymous SNV Y45C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 188289 chr8 145537706 145537706 G T HSF1 Nonsynonymous SNV S458I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 188290 chr8 145557087 145557087 C A SCRT1 Synonymous SNV S269S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 188291 chr6 25726660 25726660 A C rs745544971 H2AC1 Nonsynonymous SNV H32Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 188292 chr11 57070215 57070215 C T TNKS1BP1 Synonymous SNV A1467A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.55 188293 chr4 39511992 39511992 G A UGDH Nonsynonymous SNV S148F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188294 chr2 31571798 31571798 A G rs144883930 XDH Synonymous SNV F1006F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 9.115 188295 chr3 42733381 42733381 G A rs201856772 KLHL40 Nonsynonymous SNV E588K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 188296 chr8 21766944 21766955 TCGCCTGCCTCC - rs759637576 DOK2 R215_A218del 0.001 0 0 0 1 0 0 0 0 0 0 0 188297 chr11 59189475 59189475 A G OR5A2 Nonsynonymous SNV F318L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 188298 chr8 21938907 21938907 C T rs773397562 DMTN Nonsynonymous SNV P322L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 188299 chr8 22168797 22168797 C T rs774928702 PIWIL2 Nonsynonymous SNV S658F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188300 chr5 94939173 94939173 G A rs61733081 ARSK Synonymous SNV K518K 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 5.738 188301 chr16 87417207 87417207 G T FBXO31 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.161 188302 chr6 36238361 36238361 T C rs921130638 PNPLA1 Nonsynonymous SNV M42T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 188303 chr3 47079258 47079258 C T rs780299120 SETD2 Synonymous SNV Q2372Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.38 188304 chr11 60899855 60899855 C T VPS37C Nonsynonymous SNV D169N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 188305 chr3 47376217 47376217 G T rs773078483 KLHL18 Nonsynonymous SNV R269L 0.004 0 0 0 5 0 0 0 0 0 0 0 33 188306 chr3 47539791 47539791 C T rs201760674 ELP6 Synonymous SNV R219R 0.005 0 0 0 6 0 0 0 0 0 0 0 16.86 188307 chr2 55402959 55402959 G A rs140867290 CLHC1 Synonymous SNV D370D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.924 188308 chr11 62285541 62285541 G A rs139375615 AHNAK Nonsynonymous SNV P5450S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 188309 chr4 647689 647689 G A rs146204075 PDE6B Nonsynonymous SNV E254K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 34 188310 chr5 80641746 80641746 C T rs199607014 ACOT12 Nonsynonymous SNV R244H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 188311 chr20 644882 644882 C T rs374840843 SCRT2 Synonymous SNV R119R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.878 188312 chr2 67630027 67630027 A G rs114885838 ETAA1 Nonsynonymous SNV M155V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 188313 chr2 67632348 67632348 C A rs116214347 ETAA1 Nonsynonymous SNV S845Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 188314 chr6 119136720 119136720 G A rs550455531 MCM9 Nonsynonymous SNV A900V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.702 188315 chr4 74351717 74351717 C T rs146636018 AFM Nonsynonymous SNV P137S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 188316 chr2 7154873 7154873 C G rs150364218 RNF144A Nonsynonymous SNV Q8E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.78 188317 chr11 64572032 64572032 T C rs762867287 MEN1 Nonsynonymous SNV Q541R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.94 188318 chr4 77247081 77247081 A G CCDC158 Nonsynonymous SNV V1029A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 188319 chr6 49479741 49479741 T C rs560399915 GLYATL3 Nonsynonymous SNV L13P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 188320 chr3 58089761 58089761 C T rs138220431 FLNB Nonsynonymous SNV P520L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 188321 chr11 65414373 65414373 C T rs370149586 SIPA1 Nonsynonymous SNV P623L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 188322 chr3 62503834 62503834 T C rs35912235 CADPS Nonsynonymous SNV T795A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 188323 chr6 56334955 56334955 T C rs983436484 DST Nonsynonymous SNV I4860V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 188324 chr6 56342220 56342220 C T rs760700573 DST Nonsynonymous SNV V4577I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.29 188325 chr11 66050773 66050773 C T rs145441948 CNIH2 Synonymous SNV I122I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 188326 chr17 3850883 3850883 G A rs41283387 ATP2A3 Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.29 188327 chr17 4084575 4084575 C T rs367621218 ANKFY1 Synonymous SNV E780E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.966 188328 chr4 8451488 8451488 C T rs61737659 TRMT44 Nonsynonymous SNV A35V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 18.38 188329 chr8 85774654 85774654 G A rs199657548 RALYL Synonymous SNV S168S 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 12.48 188330 chr6 111913185 111913185 - GGT rs142054894 TRAF3IP2 P35_A36insP 0.005 0 0 0 6 0 0 0 1 0 0 0 188331 chr8 86021915 86021915 A G rs766219028 LRRCC1 Nonsynonymous SNV I64V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 188332 chr11 67166211 67166211 G C rs17881020 PPP1CA Synonymous SNV T244T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 188333 chr6 149068569 149068571 GAA - rs753308215 UST K4del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 188334 chr4 8607808 8607808 G A rs759863980 CPZ Nonsynonymous SNV E257K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 188335 chr4 8609123 8609123 A G rs147815913 CPZ Nonsynonymous SNV K389E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 20.7 188336 chr6 116427471 116427471 A G rs140387594 NT5DC1 Nonsynonymous SNV N53S 0.003 0 0 1 4 0 0.003 0 1 0 0 0 0.001 188337 chr6 150386630 150386630 C T rs371776868 ULBP3 Nonsynonymous SNV G178R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.063 188338 chr8 94746748 94746748 G A RBM12B Synonymous SNV L631L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.76 188339 chr19 11408995 11408995 A C TSPAN16 Nonsynonymous SNV S83R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 188340 chr4 941650 941650 C T rs34645349 TMEM175 Synonymous SNV D41D 0.003 0 0 0 3 0 0 0 0 0 0 0 13.68 188341 chr3 9976246 9976246 C G rs750243579 CRELD1 Nonsynonymous SNV Q42E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 188342 chr11 6913441 6913441 G A rs140419808 OR2D2 Synonymous SNV C97C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.694 188343 chr21 45877291 45877291 C T rs186514061 LRRC3 Nonsynonymous SNV P255L 0.005 0 0.007 1 6 0 0.003 2 0 0 0 0 18.09 188344 chr6 76657130 76657130 G A rs118155926 IMPG1 Nonsynonymous SNV L571F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 27.4 188345 chr19 14517728 14517728 G A rs61735280 ADGRE5 Synonymous SNV K628K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.38 188346 chr19 14518794 14518794 G A rs61735279 ADGRE5 Synonymous SNV T724T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.545 188347 chr9 101536336 101536336 T C ANKS6 Synonymous SNV R548R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.305 188348 chr6 158349699 158349699 C T rs151179291 SNX9 Nonsynonymous SNV T418M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 31 188349 chr19 14938634 14938634 G T rs142303444 OR7A5 Synonymous SNV L140L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.404 188350 chr3 118621486 118621486 T C IGSF11 Nonsynonymous SNV S393G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.033 188351 chr6 138727250 138727250 C T HEBP2 Synonymous SNV V138V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.13 188352 chr6 96651316 96651316 G A rs145042649 FUT9 Synonymous SNV T95T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.357 188353 chr11 76402703 76402703 C G rs72936199 GUCY2EP 0 0 0.01 0 0 0 0 3 0 0 0 0 8.064 188354 chr19 15483083 15483083 C T rs371432747 AKAP8 Nonsynonymous SNV E313K 0 0.003 0 0 0 1 0 0 0 0 0 0 28 188355 chr4 108614943 108614943 A T PAPSS1 Nonsynonymous SNV I132K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 188356 chr6 144832189 144832189 G A rs148873270 UTRN Nonsynonymous SNV R1625K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.001 188357 chr7 100075501 100075501 C T TSC22D4 Nonsynonymous SNV G54D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 188358 chr6 146007358 146007358 T C rs150452237 EPM2A Nonsynonymous SNV I126V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.021 188359 chr17 8050603 8050603 C T rs778176702 PER1 Nonsynonymous SNV G532R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 188360 chr9 114090314 114090314 T C rs199574190 OR2K2 Nonsynonymous SNV I134V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 188361 chr9 114138816 114138816 C T rs548956545 ECPAS Synonymous SNV A1320A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 188362 chr6 150039306 150039306 C A rs182289878 LOC645967 0.002 0 0 0 2 0 0 0 0 0 0 0 18.35 188363 chr19 17000013 17000013 C T rs371477486 F2RL3 Synonymous SNV L5L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 188364 chr19 17068695 17068695 G A rs200427435 CPAMD8 Synonymous SNV P748P 0.003 0.013 0.003 0 3 5 0 1 0 0 0 0 Benign 10.18 188365 chr6 151670672 151670672 G A rs142077552 AKAP12 Synonymous SNV E277E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 188366 chr6 169641889 169641889 C T rs141420844 THBS2 Nonsynonymous SNV V287M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 188367 chr6 17804634 17804634 C G KIF13A Synonymous SNV V804V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 188368 chr17 11144826 11144826 C G rs138088998 SHISA6 Synonymous SNV R29R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 188369 chr17 11660874 11660874 T A rs530333591 DNAH9 Nonsynonymous SNV I2287N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 188370 chr22 24086892 24086892 C A ZNF70 Nonsynonymous SNV G146W 0 0 0 2 0 0 0.005 0 0 0 0 0 29.5 188371 chr17 12905829 12905829 G T ELAC2 Nonsynonymous SNV H343N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 188372 chr17 14110262 14110262 G A rs757204220 COX10 Nonsynonymous SNV R355H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 188373 chr19 17992837 17992837 G A rs775927550 SLC5A5 Nonsynonymous SNV R376Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.312 188374 chr4 140811341 140811341 A G MAML3 Nonsynonymous SNV S417P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 188375 chr11 9830587 9830587 C G SBF2-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.169 188376 chr6 27839896 27839896 T C rs771795877 H3C11 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 188377 chr6 161162369 161162369 T A rs147175166 PLG Nonsynonymous SNV I682N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.8 188378 chr19 18652580 18652580 C T rs61742106 FKBP8 Synonymous SNV E67E 0 0.008 0 0 0 3 0 0 0 0 0 0 12.31 188379 chr19 18995069 18995069 C T rs372257242 CERS1 Synonymous SNV T41T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.95 188380 chr7 100682722 100682722 A C rs751815831 MUC17 Synonymous SNV T2675T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 188381 chr9 130289585 130289585 C T rs138792807 NIBAN2 Nonsynonymous SNV R55H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.4 188382 chr4 16204147 16204147 C G rs199934066 TAPT1 Synonymous SNV L129L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 13.78 188383 chr12 108912785 108912785 G A rs763250722 FICD Nonsynonymous SNV V304M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 188384 chr9 130587975 130587975 C T rs546671241 ENG Nonsynonymous SNV G230R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 188385 chr9 131377998 131377998 A G rs756560952 SPTAN1 Nonsynonymous SNV T1721A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.47 188386 chr6 24569041 24569041 C T rs138160539 KIAA0319 Nonsynonymous SNV S114N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 24.5 188387 chr19 24116605 24116605 A C ZNF726 Nonsynonymous SNV K563Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 188388 chr17 27053034 27053034 G A rs747966251 TLCD1 Nonsynonymous SNV R28C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 188389 chr22 37266462 37266462 G A rs761526575 NCF4 Synonymous SNV L116L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.387 188390 chr7 117282620 117282620 G A rs77010898 CFTR Stop gain W1282X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 48 188391 chr9 131768373 131768373 C T rs61733549 NUP188 Synonymous SNV S1638S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.13 188392 chr9 13223601 13223601 G C MPDZ Nonsynonymous SNV Q168E 0.001 0 0 0 1 0 0 0 0 0 0 0 24 188393 chr22 38120290 38120290 G C rs199624486 TRIOBP Nonsynonymous SNV R576T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.27 188394 chr22 38823349 38823349 G A rs111661324 KCNJ4 Synonymous SNV H263H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.85 188395 chr12 113906162 113906162 G T rs200149314 LHX5 Nonsynonymous SNV L149M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 188396 chr19 35642164 35642164 C T rs35844512 FXYD7 Synonymous SNV N23N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 18.74 188397 chr22 39928464 39928464 C A rs775145156 RPS19BP1 Synonymous SNV T39T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.65 188398 chr19 35991291 35991291 C T DMKN Nonsynonymous SNV V136I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.451 188399 chr19 36223501 36223501 C T rs374561411 KMT2B Synonymous SNV H2017H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 5.331 188400 chr6 43038567 43038567 G A rs761981291 KLC4 Synonymous SNV P296P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 188401 chr17 35944838 35944838 C T SYNRG Synonymous SNV L169L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 188402 chr17 36551569 36551569 A G rs757237424 SOCS7 Synonymous SNV P563P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 188403 chr6 43416878 43416878 G A rs200840111 ABCC10 Nonsynonymous SNV R1352Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 188404 chr4 2073930 2073930 C G rs889364565 POLN Nonsynonymous SNV E872Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 13.7 188405 chr22 44028088 44028088 G A rs200357356 EFCAB6 Nonsynonymous SNV P558L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.45 188406 chr6 46135885 46135885 G A rs142176948 ENPP5 Nonsynonymous SNV R39C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188407 chr6 46977107 46977107 G A rs139711395 ADGRF1 Synonymous SNV L688L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.619 188408 chr5 159822460 159822460 C T rs768214649 ZBED8 Nonsynonymous SNV R13H 0.008 0 0 2 9 0 0.005 0 0 0 0 0 27 188409 chr7 138921785 138921785 A G rs765835196 UBN2 Nonsynonymous SNV D168G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 188410 chr22 46658720 46658720 G A rs201250570 PKDREJ Nonsynonymous SNV A167V 0.001 0 0 5 1 0 0.013 0 0 0 0 0 2.348 188411 chr9 139839793 139839793 G A rs992390462 C8G Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.244 188412 chr4 3441279 3441279 G A rs186552583 RGS12 Synonymous SNV A756A 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 8.961 188413 chr5 168199946 168199946 G A rs34031423 SLIT3 Synonymous SNV H433H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.582 188414 chr6 38919109 38919109 C T rs61748647 DNAH8 Synonymous SNV D3871D 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 Benign 13.38 188415 chr12 13140127 13140127 G A rs774202513 HEBP1 Synonymous SNV S119S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 188416 chr19 40541765 40541765 T C rs755770118 ZNF780B Nonsynonymous SNV E334G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.41 188417 chr5 172517941 172517941 C G rs754648770 CREBRF Nonsynonymous SNV S253R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 188418 chr12 13529218 13529218 C T rs149562504 LINC01559 0 0 0.01 0 0 0 0 3 0 0 0 0 10.95 188419 chr19 42854432 42854432 G A rs754432292 MEGF8 Nonsynonymous SNV G811R 0.002 0.003 0.003 0 2 1 0 1 1 0 0 0 15.11 188420 chr19 42860301 42860301 G A rs764112268 MEGF8 Nonsynonymous SNV G1420R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 188421 chr4 42895480 42895480 - TC GRXCR1 Frameshift insertion E67Qfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 188422 chr4 42895481 42895481 - GAAGGTGAT GRXCR1 E67_S68insGDE 0.001 0 0 0 1 0 0 0 0 0 0 0 188423 chr17 39912040 39912040 C T rs781885294 JUP Nonsynonymous SNV G732S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.1 188424 chr4 466486 466486 G A ABCA11P 0.009 0.003 0 1 10 1 0.003 0 0 0 0 0 2.75 188425 chr2 100209800 100209800 G A rs199505111 AFF3 Synonymous SNV L800L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.432 188426 chr9 2039779 2039779 - CAGCAGCAGCAG SMARCA2 Q238_P239insQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 188427 chr17 40729692 40729692 G A rs151097093 PSMC3IP Nonsynonymous SNV R5W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188428 chr9 26905961 26905961 G C PLAA Nonsynonymous SNV L623V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 188429 chr9 27212850 27212850 C T rs150499673 TEK Synonymous SNV F796F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 188430 chr9 32630403 32630403 A C rs111917220 TAF1L Nonsynonymous SNV D1725E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.564 188431 chr17 42284903 42284903 A G UBTF Synonymous SNV D659D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 188432 chr9 32633275 32633275 C T TAF1L Nonsynonymous SNV R768H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 188433 chr9 33923993 33923993 C T UBAP2 Nonsynonymous SNV V105I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 188434 chr19 45295735 45295735 G C rs778634807 CBLC Synonymous SNV G321G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.843 188435 chr9 33988994 33988994 C G rs112150520 UBAP2 Nonsynonymous SNV R102T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 188436 chr17 43923753 43923753 T G rs146712594 SPPL2C Nonsynonymous SNV M494R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 188437 chr19 45992120 45992120 C T rs533022763 RTN2 Nonsynonymous SNV V116M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 28.8 188438 chr12 33031068 33031068 C T rs1085307949 PKP2 Nonsynonymous SNV S249N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 188439 chr5 35659301 35659301 C G rs184606856 SPEF2 Nonsynonymous SNV R387G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 188440 chr12 3390463 3390463 G A TSPAN9 Nonsynonymous SNV G178R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 188441 chr7 100280850 100280850 G A rs767907287 GIGYF1 Nonsynonymous SNV R733W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 188442 chr19 46506403 46506403 C T rs748214650 CCDC61 Nonsynonymous SNV R43W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 188443 chr5 37358229 37358229 T C NUP155 Synonymous SNV G139G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.925 188444 chr5 38451553 38451553 G A rs774301135 EGFLAM Nonsynonymous SNV V37M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 188445 chr17 47009069 47009069 T C SNF8 Nonsynonymous SNV Y175C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 188446 chr9 5022130 5022130 G A rs143227399 JAK2 Nonsynonymous SNV G48E 0.003 0 0 0 4 0 0 0 0 0 0 0 11.75 188447 chr5 40928694 40928694 T C C7 Nonsynonymous SNV F7L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 188448 chr12 48537937 48537937 G A PFKM Synonymous SNV Q663Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 188449 chr4 71200799 71200799 A G rs115130040 CABS1 Nonsynonymous SNV T15A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 15.39 188450 chr7 29918646 29918646 A C rs377037903 WIPF3 Nonsynonymous SNV E82A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.1 188451 chr5 54516602 54516602 C T MCIDAS Synonymous SNV G250G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 15.03 188452 chr5 54585213 54585213 C T rs112028693 DHX29 Nonsynonymous SNV M317I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.207 188453 chr5 54586170 54586170 A G rs112295780 DHX29 Synonymous SNV N261N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.295 188454 chr9 80040495 80040495 T C rs61755085 GNA14 Nonsynonymous SNV Y287C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 188455 chr12 51236818 51236818 C G rs112205327 TMPRSS12 Nonsynonymous SNV S24W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 188456 chr9 92003576 92003576 G A rs148588269 SEMA4D Nonsynonymous SNV P361L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.7 188457 chr12 52651980 52651980 T G KRT87P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 188458 chr7 4245527 4245527 G A rs141895569 SDK1 Synonymous SNV P192P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.943 188459 chr2 152380871 152380871 C T rs767207985 NEB Nonsynonymous SNV R5777H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 34 188460 chr7 43680213 43680213 G C rs751685362 COA1 Synonymous SNV G88G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.649 188461 chr4 84337944 84337944 G C rs768787457 HELQ Synonymous SNV L979L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.805 188462 chr2 152737354 152737354 G C CACNB4 Nonsynonymous SNV A83G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 188463 chr4 86985451 86985451 T C rs776143146 MAPK10 Nonsynonymous SNV N360D 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 188464 chr2 158636982 158636982 G A ACVR1 Synonymous SNV Y66Y 0 0 0 2 0 0 0.005 0 0 0 0 0 8.96 188465 chr17 71232233 71232233 C T rs141070864 C17orf80 Synonymous SNV L204L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.522 188466 chr7 100463678 100463678 G A rs758230475 SLC12A9 Synonymous SNV L589L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.59 188467 chr7 48634375 48634375 C T rs369999071 ABCA13 Nonsynonymous SNV R4904W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 188468 chr12 54576380 54576380 G A rs3136389 SMUG1 Nonsynonymous SNV R3W 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 188469 chrX 135313924 135313924 G C rs61736704 MAP7D3 Nonsynonymous SNV L363V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 188470 chrX 135429921 135429921 C T rs141744231 ADGRG4 Synonymous SNV H1352H 0.002 0 0 0 2 0 0 0 1 0 0 0 2.344 188471 chrX 135594012 135594012 A G rs35613299 HTATSF1 Nonsynonymous SNV N703S 0.002 0 0 0 2 0 0 0 1 0 0 0 13.22 188472 chr5 100231408 100231408 C T rs144123874 ST8SIA4 Synonymous SNV Q65Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.96 188473 chr19 54376871 54376871 C G rs150547635 MYADM Nonsynonymous SNV R30G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 21.3 188474 chr17 73497893 73497893 C T rs142355604 CASKIN2 Nonsynonymous SNV A1006T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.286 188475 chrX 152014908 152014908 G A rs147318065 NSDHL Nonsynonymous SNV A14T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.003 188476 chrX 15618958 15618958 T C rs4646116 ACE2 Nonsynonymous SNV K26R 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Likely benign 0.01 188477 chr12 6230479 6230479 G A rs140419498 VWF Synonymous SNV R27R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.084 188478 chr12 62997153 62997153 C T rs113188524 LINC01465 0 0 0.003 0 0 0 0 1 0 0 0 0 9.983 188479 chr5 115840627 115840627 G C rs374035190 SEMA6A Nonsynonymous SNV A5G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.6 188480 chr5 121354968 121354968 C T rs752074005 SRFBP1 Nonsynonymous SNV A95V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188481 chr7 75890710 75890710 G T rs782735648 SRRM3 Nonsynonymous SNV V206L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.91 188482 chr5 126746220 126746220 C T rs750674329 MEGF10 Nonsynonymous SNV R353C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 188483 chr12 68720690 68720690 G A rs138786804 MDM1 Nonsynonymous SNV A82V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 188484 chr2 179553494 179553494 T G TTN Nonsynonymous SNV K9459Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 188485 chr7 78150758 78150758 A T rs761048587 MAGI2 Nonsynonymous SNV V248E 0.003 0 0 0 3 0 0 0 0 0 0 0 21.4 188486 chrX 38144889 38144889 T C RPGR Synonymous SNV K1121K 0.002 0 0 0 2 0 0 0 1 0 0 0 0.127 188487 chr12 7053030 7053030 C T rs149374821 RNU7-1 0 0 0.01 0 0 0 0 3 0 0 0 0 7.293 188488 chr5 137522852 137522852 C T KIF20A Nonsynonymous SNV A808V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 188489 chr7 1049633 1049633 C T rs374773756 C7orf50 Synonymous SNV P92P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 188490 chr5 138209304 138209304 T A LRRTM2 Nonsynonymous SNV S316C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 188491 chrY 15417360 15417360 G A rs200431840 UTY Nonsynonymous SNV L982F 0.003 0.01 0.007 2 4 4 0.005 2 2 2 1 1 28.1 188492 chr5 139745600 139745600 C G SLC4A9 Nonsynonymous SNV P617R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 188493 chr12 89745421 89745421 C T DUSP6 Synonymous SNV L132L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 188494 chr7 142658930 142658930 C G rs146250598 KEL Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.246 188495 chr12 9311051 9311051 T A PZP Nonsynonymous SNV R1087W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 188496 chr19 58198296 58198296 A G rs10413864 ZNF551 Nonsynonymous SNV N190S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 188497 chr19 58291082 58291082 T C rs77954539 ZNF586 Nonsynonymous SNV I376T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 188498 chr8 10467580 10467580 - CTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTG RP1L1 K1342_E1343insAEEGLQEEGVQLEGTK 0.002 0 0 0 2 0 0 0 1 0 0 0 188499 chr5 140725581 140725581 - CCGTGG rs528023660 PCDHGA3 A665_D666insVA 0.002 0.003 0 0 2 1 0 0 0 0 0 0 188500 chr19 58864347 58864347 C A rs747606542 A1BG Nonsynonymous SNV G96V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 188501 chr7 148851304 148851304 G A rs141591569 ZNF398 Nonsynonymous SNV V98M 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 23.2 188502 chr8 110394768 110394768 G T rs773702657 PKHD1L1 Nonsynonymous SNV G129C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 188503 chr6 132641793 132641793 G A rs372829567 MOXD1 Nonsynonymous SNV T447M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 188504 chr5 143543740 143543740 T C rs201180255 YIPF5 Nonsynonymous SNV M68V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.82 188505 chr13 103339363 103339363 C G rs148307139 METTL21C Nonsynonymous SNV L109F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.48 188506 chr8 117879001 117879001 C T rs16889042 RAD21 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.3 188507 chr1 6662334 6662334 G A rs757105046 KLHL21 Synonymous SNV L182L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.616 188508 chr1 8390778 8390778 G A rs776965975 SLC45A1 Nonsynonymous SNV D409N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.49 188509 chr1 9005975 9005975 G A rs34649225 CA6 Synonymous SNV L10L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.863 188510 chr13 113622456 113622456 - G rs56024277 MCF2L-AS1 0 0 0.02 0 0 0 0 6 0 0 1 0 188511 chr18 20573799 20573799 A C rs369234115 RBBP8 Nonsynonymous SNV Q643P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.279 188512 chr20 2380221 2380221 C T rs370489062 TGM6 Synonymous SNV N229N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.1 188513 chr4 126412296 126412296 G A rs758537642 FAT4 Synonymous SNV P4774P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 0.679 188514 chr4 129035762 129035762 G A rs141696586 LARP1B Synonymous SNV L101L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.096 188515 chr1 15639551 15639551 A G rs201999060 FHAD1 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 188516 chr4 142653890 142653890 G A IL15 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 188517 chr5 159776691 159776691 G A rs764263831 C1QTNF2 Synonymous SNV N114N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.607 188518 chr8 144126187 144126187 G A rs148676786 C8orf31 0.001 0 0 0 1 0 0 0 0 0 0 0 9.59 188519 chr7 2742474 2742474 C A AMZ1 Synonymous SNV R141R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 188520 chr7 150749647 150749647 G A ASIC3 Synonymous SNV L508L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.912 188521 chr6 161528941 161528941 G A rs150287170 MAP3K4 Synonymous SNV Q1299Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.529 188522 chr5 169469129 169469129 A G rs764278559 DOCK2 Nonsynonymous SNV K1290R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 188523 chr18 52585161 52585161 T C rs373148060 CCDC68 Nonsynonymous SNV N286D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 188524 chr7 31855577 31855577 A C rs2230175 PDE1C Nonsynonymous SNV S592A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.578 188525 chr18 55226418 55226418 C T rs148538669 FECH Nonsynonymous SNV E255K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 188526 chr8 144941480 144941480 G A rs782487282 EPPK1 Nonsynonymous SNV P1981L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 188527 chr8 144993154 144993154 C T rs369226598 PLEC Nonsynonymous SNV R3598Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 22 188528 chr8 144996830 144996830 C T rs193257576 PLEC Nonsynonymous SNV A2409T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.8 188529 chr1 20974952 20974952 G A rs371942025 PINK1-AS 0.003 0 0 0 4 0 0 0 0 0 0 0 3.118 188530 chr8 144999531 144999531 C T rs782336200 PLEC Synonymous SNV K1508K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.119 188531 chr5 177569885 177569885 A C RMND5B Synonymous SNV S93S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 188532 chr13 53384262 53384262 C T rs543025181 MIR759 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 188533 chr5 179193668 179193668 G A rs61753465 MAML1 Nonsynonymous SNV E553K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 25.5 188534 chr7 4213952 4213952 G A rs145947614 SDK1 Synonymous SNV T120T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.965 188535 chr13 80911504 80911504 T C rs61756189 SPRY2 Nonsynonymous SNV T113A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.624 188536 chr8 146107595 146107595 G C ZNF250 Nonsynonymous SNV Q309E 0.004 0 0 0 5 0 0 0 0 0 0 0 21.2 188537 chr8 17611522 17611522 G A rs202218163 MTUS1 Nonsynonymous SNV H599Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 188538 chr20 39794181 39794181 A G PLCG1 Nonsynonymous SNV E534G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 188539 chr18 72997878 72997878 G A rs370336035 TSHZ1 Synonymous SNV T172T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.805 188540 chr20 43254304 43254304 C T rs572092463 ADA Synonymous SNV E128E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.5 188541 chr19 373977 373977 A G rs754966216 THEG Nonsynonymous SNV S156P 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 188542 chr19 464066 464066 G A rs201133501 ODF3L2 Synonymous SNV R216R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.181 188543 chr7 33384201 33384201 C T rs6964382 BBS9 Synonymous SNV T306T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.3 188544 chr4 2097586 2097586 T C rs772669141 POLN Nonsynonymous SNV Y686C 0.004 0 0 2 5 0 0.005 0 0 0 0 0 24.8 188545 chr4 25032262 25032264 CAG - rs761373892 LGI2 L18del 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 188546 chr1 36372710 36372710 G A rs749491572 AGO1 Synonymous SNV T449T 0.003 0 0 0 3 0 0 0 0 0 0 0 14.55 188547 chr14 105963766 105963766 T G rs144610042 TEDC1 Nonsynonymous SNV F220V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 188548 chr20 49626314 49626314 C T rs367782891 KCNG1 Nonsynonymous SNV A188T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.137 188549 chr4 3076604 3076618 CAGCAGCAGCAGCAG - HTT Q34_Q38del 0.003 0.005 0.007 2 4 2 0.005 2 0 0 1 0 188550 chr2 241508204 241508204 G C rs140598905 RNPEPL1 Synonymous SNV A67A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.69 188551 chr8 29927247 29927247 T G SARAF Nonsynonymous SNV Y32S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 188552 chr8 30732521 30732521 C A TEX15 Synonymous SNV S78S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 188553 chr7 47342970 47342970 G A rs371933905 TNS3 Nonsynonymous SNV A1012V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.765 188554 chr7 47897284 47897284 C T rs760373258 PKD1L1 Synonymous SNV A1503A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.76 188555 chr7 77484112 77484112 G A rs184436285 PHTF2 Synonymous SNV Q36Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.154 188556 chr5 67589022 67589022 A G PIK3R1 Synonymous SNV T8T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.51 188557 chr8 43152453 43152453 T C POTEA Nonsynonymous SNV C147R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.369 188558 chr1 44035293 44035293 G A rs777318046 PTPRF Nonsynonymous SNV D138N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 188559 chr1 44084758 44084758 T C rs759154108 PTPRF Nonsynonymous SNV F1207L 0.002 0 0 0 2 0 0 0 0 0 0 0 24 188560 chr5 71493531 71493533 CTA - MAP1B T1325del 0.001 0 0 0 1 0 0 0 0 0 0 0 188561 chr2 27684374 27684374 G T rs773174861 IFT172 Nonsynonymous SNV A735D 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 18.37 188562 chr20 61528146 61528146 C T rs140512956 DIDO1 Synonymous SNV R597R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 15.44 188563 chr14 24801089 24801089 T C rs781254640 ADCY4 Nonsynonymous SNV K192E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.8 188564 chr8 71487206 71487206 T C rs754557661 TRAM1 Synonymous SNV V276V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.918 188565 chr6 4716093 4716093 G T rs142478254 CDYL Nonsynonymous SNV K27N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 188566 chr20 62200140 62200140 C T rs369772118 HELZ2 Nonsynonymous SNV R434Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.175 188567 chr8 76459918 76459920 TAA - rs752520768 HNF4G 0.001 0 0 0 1 0 0 0 0 0 0 0 188568 chr20 62374328 62374328 G A SLC2A4RG Synonymous SNV Q383Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.773 188569 chr21 15599325 15599325 C T RBM11 Nonsynonymous SNV S193L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 188570 chr7 73010800 73010800 C T rs372431557 MLXIPL Nonsynonymous SNV R611Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 188571 chr8 100146942 100146942 G C rs147448147 VPS13B Nonsynonymous SNV G430A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 188572 chr5 89920969 89920969 C A rs61745498 ADGRV1 Nonsynonymous SNV P194H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 33 188573 chr2 54856774 54856774 G A rs1045396295 SPTBN1 Nonsynonymous SNV A822T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 188574 chr21 37603125 37603125 T C rs75907001 DOP1B Synonymous SNV S681S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.066 188575 chr21 37661466 37661466 G A rs112991413 DOP1B Synonymous SNV A2159A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.065 188576 chr21 37716957 37716957 G A rs372893224 MORC3 Synonymous SNV S208S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.45 188577 chr6 75853022 75853022 T C COL12A1 Synonymous SNV G427G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.634 188578 chr9 107533159 107533159 A G rs3739740 NIPSNAP3B Nonsynonymous SNV K154E 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 27.7 188579 chr9 109701297 109701297 C T rs144415479 ZNF462 Synonymous SNV L1247L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.78 188580 chr2 69870119 69870119 G T rs56314677 AAK1 Synonymous SNV S18S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.635 188581 chr7 99526647 99526647 G T rs143828671 GJC3 Nonsynonymous SNV S199R 0.007 0 0.003 3 8 0 0.008 1 0 0 0 0 24.4 188582 chr7 99573643 99573643 T C rs139838304 AZGP1 Star tloss M1? 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.088 188583 chr21 43519042 43519042 C T UMODL1 Nonsynonymous SNV P313L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 188584 chr14 73412693 73412693 C G rs766653249 DCAF4 Synonymous SNV L151L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.661 188585 chr8 107763139 107763139 C T rs370486003 OXR1 Synonymous SNV I207I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.926 188586 chr2 86308093 86308093 G A POLR1A Nonsynonymous SNV P311L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 188587 chr8 110520021 110520021 C T rs144848911 PKHD1L1 Synonymous SNV D3708D 0.001 0 0.01 0 1 0 0 3 0 0 0 0 14.75 188588 chr8 144296964 144296964 C G rs545434518 GPIHBP1 Synonymous SNV G86G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.539 188589 chr6 128150637 128150637 A T rs148648720 THEMIS Synonymous SNV I231I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.031 188590 chr14 91165636 91165636 C G rs150906641 LOC105370622 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 1.596 188591 chr19 9921861 9921861 C A rs142014372 FBXL12 Nonsynonymous SNV R198L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.9 188592 chr21 47957398 47957398 G A rs373888442 DIP2A Nonsynonymous SNV A540T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 188593 chr19 10570141 10570141 C T rs141286487 PDE4A Synonymous SNV R150R 0.005 0 0.003 0 6 0 0 1 0 0 0 0 8.548 188594 chr19 11312612 11312612 C A rs368573184 DOCK6 Nonsynonymous SNV A1881S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 188595 chr19 12186558 12186558 G A ZNF844 Nonsynonymous SNV C208Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 188596 chr9 127572311 127572311 G A rs140626253 OLFML2A Nonsynonymous SNV E313K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 188597 chr22 21989023 21989023 C T rs200901774 CCDC116 Nonsynonymous SNV S224L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 188598 chr19 14076531 14076531 C T RFX1 Nonsynonymous SNV E674K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 188599 chr19 14677022 14677022 T G rs202223254 NDUFB7 Nonsynonymous SNV K113Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.995 188600 chr3 113750614 113750614 C A rs776676351 CCDC191 Nonsynonymous SNV R255S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 188601 chr22 25601324 25601324 C T rs760710928 CRYBB3 Synonymous SNV N155N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.083 188602 chr7 100681373 100681373 C T rs144624588 MUC17 Nonsynonymous SNV P2226S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 188603 chr5 136993873 136993873 G A KLHL3 Synonymous SNV L202L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.44 188604 chr9 132397497 132397497 C T rs139507881 NTMT1 Nonsynonymous SNV P114L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.07 188605 chr5 137354042 137354042 C T FAM13B Nonsynonymous SNV E107K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 188606 chr22 30387547 30387547 C T rs777414528 MTMR3 Synonymous SNV N116N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.67 188607 chr19 16860437 16860437 C T rs112475128 NWD1 Synonymous SNV H122H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.017 188608 chr6 159677656 159677656 A G rs749150045 FNDC1 Nonsynonymous SNV N1723D 0.003 0 0 0 3 0 0 0 0 0 0 0 26 188609 chr22 31283313 31283313 C T rs7285523 LOC107985544 0 0.01 0 1 0 4 0.003 0 0 0 0 0 8.395 188610 chr22 31985542 31985542 C G rs754021012 SFI1 Nonsynonymous SNV A453G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.987 188611 chr6 1611601 1611601 C T rs369300819 FOXC1 Synonymous SNV G307G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 5.914 188612 chr15 41862897 41862897 - GAGA rs750893216 TYRO3 Frameshift insertion F484Rfs*28 0.001 0 0.007 0 1 0 0 2 0 0 0 0 188613 chr6 167412945 167412945 G C FGFR1OP Nonsynonymous SNV E15D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 188614 chr19 17988576 17988576 T C rs545753923 SLC5A5 Nonsynonymous SNV V248A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 188615 chr3 127358092 127358092 G A rs369628001 PODXL2 Synonymous SNV A25A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.646 188616 chr22 37465242 37465242 G C TMPRSS6 Nonsynonymous SNV L662V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 188617 chr15 43277094 43277094 T C rs141869423 UBR1 Synonymous SNV Q1348Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.941 188618 chr6 17817460 17817460 T C KIF13A Synonymous SNV P597P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.551 188619 chr9 139252477 139252477 C T GPSM1 Synonymous SNV I102I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 188620 chr8 145542365 145542365 C T rs142990281 DGAT1 Synonymous SNV A155A 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 18.17 188621 chr8 33346302 33346302 C T rs778583006 MAK16 Nonsynonymous SNV R76C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 188622 chr19 18547264 18547264 C T rs61743938 ISYNA1 Nonsynonymous SNV R84Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 23.6 188623 chr19 18561420 18561420 C T rs34078075 ELL Synonymous SNV S444S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.57 188624 chr19 18561473 18561473 G A rs34868531 ELL Synonymous SNV L427L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.238 188625 chr19 18572616 18572616 C A rs35328461 ELL Synonymous SNV A172A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.97 188626 chr22 39907318 39907318 C T rs150822596 MIEF1 Nonsynonymous SNV R7C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 188627 chr8 37730139 37730139 C T rs768364395 RAB11FIP1 Synonymous SNV P727P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 188628 chr15 49031209 49031209 G C CEP152 Nonsynonymous SNV P1401R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 188629 chr22 41548317 41548317 C T rs150498069 EP300 Synonymous SNV T1009T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.39 188630 chr3 132413749 132413749 A G rs767339363 NPHP3 Synonymous SNV T744T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.337 188631 chr5 149212620 149212620 G T rs762229674 PPARGC1B Nonsynonymous SNV W289C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.411 188632 chr22 42276973 42276973 G A rs138200400 SREBF2 Nonsynonymous SNV R672Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 188633 chr19 21131761 21131761 A G rs374941908 ZNF85 Synonymous SNV Q83Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.051 188634 chr19 21300289 21300289 A C ZNF714 Synonymous SNV T273T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.006 188635 chr22 43203153 43203153 C T rs202174033 ARFGAP3 Nonsynonymous SNV R402H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 188636 chr6 26598498 26598498 - CA ABT1 Frameshift insertion R150Tfs*23 0.003 0 0 4 4 0 0.01 0 0 0 0 0 188637 chr8 1893793 1893793 C T rs765114856 ARHGEF10 Synonymous SNV I1085I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.87 188638 chr6 27368874 27368874 T C rs58690463 ZNF391 Nonsynonymous SNV I242T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 20.6 188639 chr19 32843766 32843766 G A ZNF507 Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.315 188640 chr22 45127656 45127656 C T rs146749313 PRR5 Synonymous SNV F28F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.89 188641 chr15 62534805 62534805 C T rs182929783 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 4.987 188642 chr19 34810871 34810871 G A rs375356637 KIAA0355 Synonymous SNV A185A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 188643 chr22 50468977 50468977 G A rs201070847 TTLL8 Synonymous SNV P711P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.232 188644 chr19 36224317 36224317 G A rs199657659 KMT2B Synonymous SNV P2289P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 10.34 188645 chr9 27548300 27548300 G A rs757625044 C9orf72 Synonymous SNV H460H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.76 188646 chr3 158428589 158428589 T A rs11919919 RARRES1 Nonsynonymous SNV D158V 0 0.008 0 1 0 3 0.003 0 0 1 0 0 29.5 188647 chr6 36339143 36339143 C T rs61730656 ETV7 Nonsynonymous SNV A59T 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 1.286 188648 chr15 72668539 72668539 T C rs4777505 HEXA-AS1 0 0 0.02 0 0 0 0 6 0 0 3 0 4.758 188649 chr1 171254576 171254576 G C rs375591300 FMO1 Nonsynonymous SNV V502L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.2 188650 chr22 50964225 50964225 C T TYMP Nonsynonymous SNV E475K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.56 188651 chr8 37991053 37991053 C T ASH2L Nonsynonymous SNV P398S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.6 188652 chr9 100092968 100092968 - GAG CCDC180 E780_K781insE 0.001 0 0 0 1 0 0 0 0 0 0 0 188653 chr9 35737479 35737479 T G GBA2 Synonymous SNV P876P 0.003 0 0 0 3 0 0 0 0 0 0 0 16.14 188654 chr9 101073456 101073456 C A rs781275870 GABBR2 Nonsynonymous SNV R642L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 188655 chr6 42025184 42025184 C T TAF8 Nonsynonymous SNV P141L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.4 188656 chrX 24763578 24763578 A G rs773902519 POLA1 Synonymous SNV L870L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 188657 chr6 44227996 44227996 C A rs139653621 NFKBIE Synonymous SNV A268A 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 22.7 188658 chr8 63866471 63866471 A G rs993630826 NKAIN3 Nonsynonymous SNV I181M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 188659 chr19 39997737 39997737 G A rs115456333 DLL3 Synonymous SNV A384A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.65 188660 chr15 83395799 83395799 G A ACTG1P17 0 0 0.003 0 0 0 0 1 0 0 0 0 4.809 188661 chr9 112172627 112172627 G A PTPN3 Nonsynonymous SNV S129F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.69 188662 chr19 40882588 40882588 C T rs57187324 PLD3 Synonymous SNV I364I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.31 188663 chr19 40895493 40895493 G A rs79236726 HIPK4 Nonsynonymous SNV A106V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.2 188664 chr19 40903367 40903367 G A rs185112635 PRX Nonsynonymous SNV P298S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 188665 chr9 78938155 78938155 G A PCSK5 Synonymous SNV E1403E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.664 188666 chr19 41699315 41699315 G A rs970104453 CYP2S1 Nonsynonymous SNV R49Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 188667 chr1 185934999 185934999 G A rs34692227 HMCN1 Nonsynonymous SNV E722K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 21.1 188668 chr19 41825549 41825549 G A rs369747565 CCDC97 Synonymous SNV Q126Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.561 188669 chr1 186007990 186007990 C T rs140559544 HMCN1 Nonsynonymous SNV L1961F 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 24.9 188670 chr8 82592967 82592967 G A rs61755740 IMPA1 Nonsynonymous SNV P39S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 17.82 188671 chrX 66765159 66765173 GCAGCAGCAGCAGCA - rs745982326 AR Q76_Q80del 0.002 0.003 0.01 0 2 1 0 3 0 0 1 0 188672 chrX 66765173 66765173 - GCA AR Q80_E81insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 188673 chr9 88961220 88961220 T C rs144051921 TUT7 Synonymous SNV L232L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.007 188674 chr9 117266533 117266533 C T rs147477922 WHRN Synonymous SNV R183R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.43 188675 chrX 71813054 71813054 T C rs151120187 PHKA1 Nonsynonymous SNV D976G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 188676 chr6 55142307 55142307 G A HCRTR2 Nonsynonymous SNV A298T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 188677 chr6 555989 555989 C T EXOC2 Nonsynonymous SNV E653K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 188678 chr8 99028863 99028863 C T rs369620547 MATN2 Nonsynonymous SNV L516F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 188679 chr5 37186448 37186448 C A rs889635214 CPLANE1 Nonsynonymous SNV V1377F 0.002 0 0 0 2 0 0 0 0 0 0 0 27 188680 chr8 99961345 99961345 G A rs545725252 OSR2 Synonymous SNV T55T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 188681 chr7 31855625 31855625 C G rs61736729 PDE1C Nonsynonymous SNV V576L 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Likely benign 16.31 188682 chr9 97062879 97062879 G C ZNF169 Nonsynonymous SNV V156L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 188683 chr6 6248653 6248653 C T rs372296352 F13A1 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 26.3 188684 chr9 125140226 125140226 G A rs145719684 PTGS1 Nonsynonymous SNV R48H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 188685 chr9 100773650 100773650 C T rs147068709 ANP32B Synonymous SNV D205D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.426 188686 chr9 100971338 100971338 G C TBC1D2 Nonsynonymous SNV R128G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 188687 chrX 107380393 107380393 A C rs79788197 ATG4A Nonsynonymous SNV E103D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 23.4 188688 chrX 107431855 107431855 G A rs202006605 COL4A6 Synonymous SNV P493P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.734 188689 chrX 107462966 107462966 T A rs144792752 COL4A6 Nonsynonymous SNV M96L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.3 188690 chrX 108652306 108652306 C T rs7883913 GUCY2F Nonsynonymous SNV R628Q 0.003 0 0 0 3 0 0 0 1 0 0 0 25.4 188691 chrX 108647653 108647653 C G rs35474112 GUCY2F Nonsynonymous SNV V677L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.8 188692 chr5 44809440 44809440 G A rs201514017 MRPS30 Nonsynonymous SNV E126K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 188693 chrX 108696738 108696738 A G rs149910968 GUCY2F Synonymous SNV H461H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.176 188694 chrX 108696981 108696981 C A rs2272925 GUCY2F Nonsynonymous SNV Q380H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 188695 chrX 108718851 108718851 C G rs113525585 GUCY2F Nonsynonymous SNV Q105H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.37 188696 chrX 109694901 109694901 G A rs148526587 RTL9 Synonymous SNV T352T 0 0.003 0 0 0 1 0 0 0 0 0 0 6 188697 chrX 109696783 109696783 A C rs140621397 RTL9 Nonsynonymous SNV M980L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.705 188698 chrX 109924715 109924715 C T rs144417315 CHRDL1 Nonsynonymous SNV R304Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23 188699 chr9 130248080 130248080 C G rs149540339 LRSAM1 Nonsynonymous SNV Q409E 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 15.76 188700 chrX 129147840 129147840 C T rs747692788 BCORL1 Synonymous SNV S364S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.925 188701 chr5 56177686 56177686 G A MAP3K1 Nonsynonymous SNV A887T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 188702 chr16 14020530 14020530 T G ERCC4 Nonsynonymous SNV N167K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 188703 chrX 140993827 140993827 - TTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTC MAGEC1 R220_T221insSQRTSEGFAQSPLQIPVSSSSSSTLLSLFQSSPER 0.002 0.003 0 2 2 1 0.005 0 1 0 0 1 188704 chrX 148571914 148571914 G A rs201048643 IDS Nonsynonymous SNV R313C 0.006 0.005 0 0 7 2 0 0 3 0 0 0 Benign 25.1 188705 chr3 42680868 42680868 G A rs377121653 NKTR Synonymous SNV K1224K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.71 188706 chr6 90397146 90397146 T G rs750618549 MDN1 Nonsynonymous SNV E3789D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 188707 chr9 117104368 117104368 G A rs73548990 AKNA Synonymous SNV P1146P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.684 188708 chr6 90605181 90605181 C G rs759434615 GJA10 Nonsynonymous SNV L332V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 188709 chr3 42906885 42906886 AG - rs774968799 ACKR2 S299Hfs*50 0.001 0 0 1 1 0 0.003 0 0 0 0 0 188710 chrX 153218288 153218288 G A rs781788935 HCFC1 Nonsynonymous SNV T1540I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 3.391 188711 chrX 153631342 153631342 G A rs371471420 DNASE1L1 Synonymous SNV L239L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.753 188712 chrX 153689540 153689540 C T rs377627483 PLXNA3 Synonymous SNV S232S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.409 188713 chr1 220089176 220089176 C G SLC30A10 Nonsynonymous SNV G358A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.484 188714 chrX 153740711 153740711 C T rs782702599 FAM3A Synonymous SNV S32S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.38 188715 chr9 123637006 123637006 G C rs140960631 PHF19 Nonsynonymous SNV A5G 0.003 0 0 0 3 0 0 0 0 0 0 0 17.7 188716 chr9 123725916 123725916 C A rs143886761 C5 Nonsynonymous SNV A1447S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.77 188717 chr16 22157582 22157582 C T rs61744122 VWA3A Nonsynonymous SNV T919M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 188718 chr1 879453 879453 G A rs377365499 SAMD11 Nonsynonymous SNV G656S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.032 188719 chr9 124076229 124076229 G A rs751321920 GSN Synonymous SNV P278P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.18 188720 chrX 41075407 41075407 T C USP9X Nonsynonymous SNV Y1863H 0.002 0 0 0 2 0 0 0 1 0 0 0 27.2 188721 chr7 6098690 6098690 G A rs760783908 EIF2AK1 Nonsynonymous SNV R9C 0.004 0.005 0 0 5 2 0 0 0 0 0 0 21.8 188722 chr7 6189633 6189633 C T rs200731155 USP42 Synonymous SNV S602S 0.004 0.005 0 0 5 2 0 0 0 0 0 0 12.38 188723 chr7 6193823 6193823 G C rs201567953 USP42 Nonsynonymous SNV A880P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.22 188724 chr3 46399764 46399764 T A rs200491743 CCR2 Nonsynonymous SNV M249K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.4 188725 chr1 1226511 1226511 C T rs762143476 SCNN1D Synonymous SNV P681P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.79 188726 chr1 1309611 1309611 G A rs369497562 AURKAIP1 Synonymous SNV T89T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.354 188727 chr1 1550975 1550975 A G MIB2 Nonsynonymous SNV R46G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.253 188728 chr16 2849126 2849126 G A rs764662843 PRSS41 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 188729 chr1 1689842 1689842 G A NADK Synonymous SNV G43G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.844 188730 chr1 226579963 226579963 A G rs61750986 PARP1 Synonymous SNV F113F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.38 188731 chr16 29842323 29842323 C T rs146114293 MVP Nonsynonymous SNV R84C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 188732 chr9 139316327 139316327 T C rs201569001 PMPCA Nonsynonymous SNV M305T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 188733 chr16 3077247 3077247 C T rs555217845 THOC6 Nonsynonymous SNV A259V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 188734 chr1 228465516 228465516 T G rs200804771 OBSCN Nonsynonymous SNV F2272L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.68 188735 chr16 31160532 31160532 G T rs191779462 PRSS36 Nonsynonymous SNV A45D 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 12.24 188736 chr7 83592605 83592605 G A rs142188378 SEMA3A Synonymous SNV S592S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.33 188737 chr10 102891565 102891565 C G rs747467520 TLX1 Synonymous SNV G89G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.22 188738 chr3 50402391 50402391 C G rs763919174 CACNA2D2 Synonymous SNV P1075P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.51 188739 chr9 131348185 131348185 C T rs886063502 SPTAN1 Nonsynonymous SNV R907W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 188740 chr1 9791443 9791443 - GACGACTGT CLSTN1 V837_P838insTVV 0 0.003 0 0 0 1 0 0 0 0 0 0 188741 chr1 234744788 234744788 C G rs567164754 IRF2BP2 Synonymous SNV P151P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.435 188742 chr7 100850181 100850181 C T rs376302927 PLOD3 Nonsynonymous SNV R647Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 188743 chr9 19296086 19296086 G T rs763501710 DENND4C Nonsynonymous SNV L294F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 188744 chr19 54579471 54579471 - TTTC rs766875414 TARM1 Frameshift insertion N19Kfs*65 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 188745 chr3 71096202 71096202 A G FOXP1 Synonymous SNV L85L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.843 188746 chr1 247024201 247024201 C G AHCTF1 Nonsynonymous SNV G1378R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 188747 chr9 34256668 34256668 G A rs145235095 KIF24 Synonymous SNV S979S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.856 188748 chr9 34611054 34611054 G T RPP25L Synonymous SNV G80G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.917 188749 chr8 120613685 120613685 C T rs61753746 ENPP2 Nonsynonymous SNV R284Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 188750 chr9 139656713 139656713 A T rs373957992 LCN15 Synonymous SNV A149A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 188751 chr8 125061950 125061950 G T rs200894396 FER1L6 Nonsynonymous SNV G943W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 33 188752 chr9 5163956 5163956 C T rs765000491 INSL6 Nonsynonymous SNV R200K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.181 188753 chr6 132966169 132966169 T C TAAR1 Nonsynonymous SNV Q325R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.31 188754 chr9 140468758 140468758 G A rs922412367 DPH7 Nonsynonymous SNV T47M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.905 188755 chr16 77246183 77246183 G A SYCE1L Synonymous SNV R125R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.884 188756 chr16 81095084 81095084 C T rs563994596 C16orf46 Synonymous SNV L290L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.431 188757 chr7 140374064 140374064 G C rs140400082 ADCK2 0.008 0 0 1 9 0 0.003 0 0 0 0 0 24 188758 chr7 143053883 143053883 C G rs372597823 FAM131B Synonymous SNV L187L 0.005 0 0 2 6 0 0.005 0 0 0 0 0 6.819 188759 chr7 1484556 1484556 C T rs202171352 MICALL2 Nonsynonymous SNV V384M 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 19.26 188760 chr4 1222107 1222107 G A CTBP1 Synonymous SNV L74L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.29 188761 chr1 26872452 26872452 A G rs201699710 RPS6KA1 Nonsynonymous SNV R21G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 188762 chr19 58549288 58549288 A G ZSCAN1 Synonymous SNV P28P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 188763 chr9 35403758 35403758 G A rs779790361 UNC13B Nonsynonymous SNV E1132K 0.004 0 0 0 5 0 0 0 0 0 0 0 25.6 188764 chr9 35609361 35609361 G A rs774016882 TESK1 Synonymous SNV S341S 0.004 0 0 0 5 0 0 0 0 0 0 0 4.417 188765 chr8 144885976 144885976 C G SCRIB Synonymous SNV L1085L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 188766 chr8 144998990 144998990 C G PLEC Nonsynonymous SNV G1689R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 188767 chr7 150749728 150749728 A T rs144198212 ASIC3 Nonsynonymous SNV H509L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 188768 chr8 145164484 145164484 C T rs994354669 WDR97 Nonsynonymous SNV S416L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 188769 chr20 1629894 1629894 G T SIRPG Stop gain Y78X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 188770 chr8 15978018 15978018 A T rs200647948 MSR1 Nonsynonymous SNV D395E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 188771 chr10 35928864 35928864 C T FZD8 Nonsynonymous SNV M498I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.234 188772 chr9 74365109 74365109 C T rs368636488 CEMIP2 Nonsynonymous SNV A61T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.17 188773 chr4 15005367 15005367 - C CPEB2 Frameshift insertion G359Rfs*106 0 0 0 1 0 0 0.003 0 0 0 0 0 188774 chr4 15005368 15005368 - GCGGC CPEB2 Frameshift insertion G358Afs*102 0 0 0 1 0 0 0.003 0 0 0 0 0 188775 chr16 89967129 89967129 T C rs771243841 TCF25 Synonymous SNV P436P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.234 188776 chr20 17640013 17640013 T C rs201048785 RRBP1 Synonymous SNV K380K 0.003 0 0.003 3 4 0 0.008 1 1 0 0 0 0.229 188777 chr17 13977671 13977673 AAG - rs748497811 COX10 R27del 0 0 0.003 0 0 0 0 1 0 0 0 0 188778 chr1 44603663 44603663 C T rs555970837 KLF18 Nonsynonymous SNV D997N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.814 188779 chrX 100749315 100749315 G A ARMCX4 Synonymous SNV T1913T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.758 188780 chrX 103903602 103903602 C T rs200115938 IL1RAPL2 Nonsynonymous SNV P3L 0.002 0 0 0 2 0 0 0 1 0 0 0 11.15 188781 chrX 104463649 104463649 A G rs190314896 TEX13A Synonymous SNV H409H 0.002 0 0 0 2 0 0 0 1 0 0 0 0.002 188782 chrX 109697545 109697545 A G RTL9 Nonsynonymous SNV I1234V 0.003 0 0 0 3 0 0 0 1 0 0 0 7.017 188783 chrX 110987999 110987999 T A rs13440710 ALG13 Synonymous SNV P933P 0.003 0 0 0 3 0 0 0 1 0 0 0 Likely benign 0.378 188784 chr2 55155796 55155796 T G EML6 Nonsynonymous SNV I1304M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.884 188785 chr10 61840347 61840347 G A rs75052415 ANK3 Synonymous SNV F585F 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.76 188786 chr2 55549682 55549682 T C CCDC88A Synonymous SNV L1047L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 188787 chr1 53972344 53972344 C T GLIS1 Nonsynonymous SNV G604E 0 0.003 0 0 0 1 0 0 0 0 0 0 30 188788 chrY 16936081 16936081 C T rs35394227 NLGN4Y Synonymous SNV T45T 0.003 0 0.014 0 4 0 0 4 2 0 2 0 Benign 14.21 188789 chr20 36030883 36030883 C T SRC Nonsynonymous SNV R388W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 188790 chr10 100017517 100017517 C G LOXL4 Nonsynonymous SNV E384Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 188791 chr2 69045113 69045113 C T rs148239115 ARHGAP25 Synonymous SNV A323A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 15.56 188792 chr10 102775395 102775395 G A rs972518774 PDZD7 Nonsynonymous SNV R583W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 188793 chr20 43043159 43043159 G A rs142204928 HNF4A Nonsynonymous SNV V169I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.767 188794 chr20 43926614 43926614 G A rs2233104 MATN4 Nonsynonymous SNV P426L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23.5 188795 chr10 72511949 72511949 C T rs199771530 ADAMTS14 Nonsynonymous SNV R899W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 188796 chr17 27910578 27910578 C T rs763054640 GIT1 Nonsynonymous SNV V37M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 188797 chr4 2831778 2831778 C T SH3BP2 Nonsynonymous SNV A382V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 188798 chr8 67578144 67578144 G A rs117246146 VCPIP1 Synonymous SNV S350S 0.005 0 0 0 6 0 0 0 0 0 0 0 5.006 188799 chr4 3076610 3076612 CAG - HTT Q38del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 188800 chr10 74127977 74127977 C T MICU1 Stop gain W271X 0 0.003 0 0 0 1 0 0 0 0 0 0 46 188801 chr1 64089432 64089432 G A rs77043134 PGM1 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Likely benign 25.5 188802 chr17 33288834 33288834 A G rs779714962 ZNF830 Synonymous SNV K83K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.801 188803 chr10 112838552 112838552 C G rs1800035 ADRA2A Nonsynonymous SNV N266K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.332 188804 chr17 34234210 34234210 G A rs912525286 LRRC37A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.559 188805 chr7 5410676 5410676 G A rs182116138 TNRC18 Synonymous SNV A1183A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.519 188806 chr17 34964207 34964207 C T MRM1 Synonymous SNV F246F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 188807 chr20 54972324 54972324 T A CSTF1 Synonymous SNV P77P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.329 188808 chr10 116056981 116056981 G A rs45528437 AFAP1L2 Nonsynonymous SNV R686C 0.002 0.005 0.01 2 2 2 0.005 3 0 0 0 0 34 188809 chrX 44120430 44120430 T G rs769697566 EFHC2 Nonsynonymous SNV K166T 0.002 0 0 0 2 0 0 0 1 0 0 0 23.1 188810 chr17 36905484 36905484 G A rs1984723 LOC100287808 0 0 0.007 0 0 0 0 2 0 0 1 0 8.073 188811 chr2 99978171 99978171 A G EIF5B Synonymous SNV Q269Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.366 188812 chr6 51890198 51890198 G A rs755526540 PKHD1 Synonymous SNV S1470S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.21 188813 chrX 72674311 72674311 G T rs749148546 CDX4 Nonsynonymous SNV D249Y 0.007 0 0 2 8 0 0.005 0 3 0 0 1 25.5 188814 chr1 92646532 92646532 A T rs7523552 KIAA1107 Nonsynonymous SNV N585Y 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 15.58 188815 chr1 93736075 93736075 C T rs753492470 CCDC18 Nonsynonymous SNV R1352C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 188816 chr1 94486889 94486889 C A rs114518437 ABCA4 Nonsynonymous SNV S1642I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 188817 chr1 94502327 94502327 C T rs75092434 ABCA4 Synonymous SNV T1277T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.31 188818 chr1 94548956 94548956 C A ABCA4 Synonymous SNV L270L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.71 188819 chr10 134013915 134013915 C T rs773634853 DPYSL4 Synonymous SNV H289H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.576 188820 chr20 62326770 62326770 G A rs545606632 RTEL1 Nonsynonymous SNV G974S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 7.803 188821 chr17 40474310 40474310 A T rs200529713 STAT3 Synonymous SNV A697A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.831 188822 chr1 109770993 109770993 A T SARS1 Nonsynonymous SNV D76V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 188823 chr1 109793077 109793077 C A rs62623708 CELSR2 Nonsynonymous SNV Q126K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.83 188824 chr21 30419463 30419463 A G rs147624751 USP16 Nonsynonymous SNV E610G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 188825 chr17 46257593 46257593 T C SKAP1 Nonsynonymous SNV I217V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 188826 chr1 116666907 116666907 T C rs147982833 MAB21L3 Nonsynonymous SNV I137T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 188827 chr8 10469738 10469738 C T rs141846905 RP1L1 Nonsynonymous SNV A624T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.169 188828 chr1 117556342 117556342 C T CD101 Nonsynonymous SNV R386C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.57 188829 chr10 28971169 28971169 G A rs72809669 BAMBI Nonsynonymous SNV V208I 0.009 0.008 0.007 1 10 3 0.003 2 0 0 0 0 Benign 9.001 188830 chr11 1074916 1074916 A G rs369470505 MUC2 Synonymous SNV L5L 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 0.028 188831 chr8 11414298 11414298 G C BLK Nonsynonymous SNV V231L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 188832 chr11 1101122 1101122 C T rs774668778 MUC2 Synonymous SNV L2507L 0 0.003 0 0 0 1 0 0 0 0 0 0 12 188833 chr4 95377676 95377676 T C rs971871244 PDLIM5 Synonymous SNV F126F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.83 188834 chr10 43977170 43977170 C T rs531827230 ZNF487 Nonsynonymous SNV R146C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 188835 chr5 1038403 1038403 C T rs199972116 NKD2 Nonsynonymous SNV A424V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 188836 chr8 132052530 132052530 G C rs756252913 ADCY8 Nonsynonymous SNV T17S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 188837 chr10 134011943 134011943 G A rs189724483 DPYSL4 Nonsynonymous SNV G216S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.1 188838 chr1 156622704 156622704 A G rs912521719 BCAN Synonymous SNV S654S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 188839 chr8 143413143 143413143 C T rs147034875 TSNARE1 Synonymous SNV S46S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.75 188840 chr5 131296291 131296291 C A ACSL6 Synonymous SNV V527V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.29 188841 chr8 143746875 143746875 C T rs587684949 JRK Synonymous SNV P201P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.536 188842 chr10 5789817 5789817 A T TASOR2 Nonsynonymous SNV E1397V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 188843 chr22 19341548 19341548 C T rs146643449 HIRA Synonymous SNV P885P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.19 188844 chr22 19384355 19384355 C T rs9618556 HIRA Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.7 188845 chr10 21784720 21784720 C T rs137871434 MIR1915HG 0.003 0 0 3 4 0 0.008 0 0 0 0 0 16.97 188846 chr8 144897466 144897466 G A rs539337010 SCRIB Nonsynonymous SNV A26V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 188847 chr10 27688101 27688101 G A rs142646098 PTCHD3 Stop gain R476X 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 34 188848 chr17 73316552 73316552 T C rs772698801 GRB2 Nonsynonymous SNV H143R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.62 188849 chr17 73512643 73512643 - GGAGCC rs398124622 TSEN54 P7_A8insEP 0 0.005 0.003 1 0 2 0.003 1 0 1 0 0 188850 chr8 144994064 144994064 G A rs77303974 PLEC Nonsynonymous SNV R3295C 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 188851 chr22 24224668 24224668 C T rs368660150 SLC2A11 Synonymous SNV S236S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 11.5 188852 chr10 859047 859047 C A rs149486902 LARP4B Nonsynonymous SNV C714F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.3 188853 chr2 215610542 215610542 G A rs772222117 BARD1 Nonsynonymous SNV L102F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 23.1 188854 chr17 7788364 7788364 - CCA rs752425204 CHD3 P82_L83insP 0 0 0.003 0 0 0 0 1 0 0 0 0 188855 chr10 88422062 88422062 G A rs35130918 OPN4 Nonsynonymous SNV R376H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 188856 chr11 18422526 18422526 G A rs61752915 LDHA Synonymous SNV P158P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.47 188857 chr5 148407433 148407433 C T rs143032801 SH3TC2 Nonsynonymous SNV R621H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 188858 chr17 78237544 78237544 G A rs760160793 RNF213 Nonsynonymous SNV G22R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 188859 chr10 90984909 90984909 G A rs143930279 LIPA Synonymous SNV S89S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.275 188860 chr22 31008925 31008925 A T rs781309237 TCN2 Nonsynonymous SNV Y108F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.7 188861 chr1 181702678 181702678 C A rs377580656 CACNA1E Nonsynonymous SNV H999Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.064 188862 chr11 198469 198469 G A rs140404766 ODF3 Nonsynonymous SNV A140T 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 23.6 188863 chr17 79099712 79099712 G A rs571145993 MIR3065, MIR338 0 0 0.003 0 0 0 0 1 0 0 0 0 3.26 188864 chr1 183532643 183532643 G A rs541838904 NCF2 Synonymous SNV P287P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.699 188865 chr17 79181035 79181035 T C rs375803496 CEP131 Nonsynonymous SNV T93A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 188866 chr1 183914627 183914627 G A rs140276948 COLGALT2 Nonsynonymous SNV S403F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 188867 chr2 220404877 220404877 C T rs200411864 CHPF Nonsynonymous SNV R357H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 188868 chr10 61566685 61566685 G A rs377305320 CCDC6 Synonymous SNV D333D 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.87 188869 chr17 80207347 80207347 T C rs550852694 CSNK1D Synonymous SNV E339E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 188870 chr22 38373879 38373879 G C rs889152754 SOX10 Nonsynonymous SNV P231R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 188871 chr10 64968362 64968362 G C JMJD1C Nonsynonymous SNV R804G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.5 188872 chr9 85863025 85863025 C T FRMD3 Synonymous SNV V191V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.95 188873 chr2 228197304 228197304 - ATCC MFF Frameshift insertion R119Hfs*15 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 188874 chr22 39770549 39770549 G A rs1044896873 SYNGR1 Nonsynonymous SNV G110S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 188875 chr22 40816886 40816886 - TGC rs751939334 MRTFA Q281_H282insQ 0.001 0 0.003 0 1 0 0 1 0 0 0 0 188876 chr1 202172988 202172988 T A rs199846988 LGR6 Nonsynonymous SNV I14K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.035 188877 chr8 42178258 42178258 C T rs202131707 IKBKB Synonymous SNV N526N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.78 188878 chr11 430123 430123 C T ANO9 Nonsynonymous SNV R100H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.5 188879 chr18 21441744 21441744 C T rs202215313 LAMA3 Synonymous SNV V1519V 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 Benign 14.35 188880 chr22 45279011 45279011 C T PHF21B Synonymous SNV V463V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.54 188881 chrX 128927643 128927643 C T rs370063079 SASH3 Synonymous SNV G326G 0.001 0 0 2 1 0 0.005 0 0 0 0 1 13.19 188882 chr1 213009311 213009311 - ATC rs750206965 SPATA45 D60_T61insD 0 0.003 0 0 0 1 0 0 0 0 0 0 188883 chr11 10582125 10582125 A G rs376908330 LYVE1 Nonsynonymous SNV M207T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 188884 chr8 8869126 8869126 A G rs138826421 ERI1 Nonsynonymous SNV N43S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 188885 chr22 50687800 50687800 C T rs117636118 HDAC10 Nonsynonymous SNV R216Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.297 188886 chr22 50885863 50885863 C T rs202149945 SBF1 Nonsynonymous SNV R1799H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 28 188887 chr2 241907680 241907680 G A rs548562298 CROCC2 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 188888 chr11 111385712 111385712 G C rs77968758 C11orf88 Nonsynonymous SNV R68P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 188889 chr11 111385731 111385731 G A rs774671698 C11orf88 Synonymous SNV G74G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.363 188890 chr18 46474797 46474797 G C rs145686330 SMAD7 Synonymous SNV P208P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.877 188891 chr18 47390688 47390688 G A rs747798528 MYO5B Synonymous SNV A1222A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 188892 chr9 101518761 101518761 G A rs199722684 ANKS6 Nonsynonymous SNV S756L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 188893 chr11 114182867 114182868 CC - rs775033225 NNMT P156Gfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 188894 chr11 114271413 114271413 A G RBM7 Nonsynonymous SNV E7G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 188895 chrX 18665369 18665369 C G RS1 Nonsynonymous SNV V90L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 188896 chrX 24717607 24717607 C A rs138282947 POLA1 Nonsynonymous SNV R37S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 188897 chrX 24741351 24741351 C T rs11573338 POLA1 Synonymous SNV I389I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.3 188898 chrX 153588938 153588938 C T rs782292169 FLNA Synonymous SNV P1075P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 7.629 188899 chr5 38921839 38921839 G A rs780239020 OSMR Nonsynonymous SNV G570S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 188900 chr9 111688823 111688823 T C rs760519575 ELP1 Nonsynonymous SNV H35R 0.002 0 0 0 2 0 0 0 0 0 0 0 24 188901 chrX 18348730 18348730 G A SCML2 Nonsynonymous SNV S23L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 188902 chr11 118377073 118377073 C T rs376937581 KMT2A Nonsynonymous SNV T3489M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 188903 chrX 3007589 3007589 C A rs773991757 ARSF Nonsynonymous SNV P295T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 188904 chr3 10146113 10146113 C T rs201914454 FANCD2OS Nonsynonymous SNV G116R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 188905 chr11 121477998 121478001 GAGT - SORL1 R1722Sfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 188906 chrX 50052322 50052322 T A rs149456824 CCNB3 Nonsynonymous SNV L385M 0.003 0.005 0 0 3 2 0 0 0 1 0 0 10.79 188907 chr5 5461556 5461556 G A ICE1 Synonymous SNV L703L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.584 188908 chrX 51638449 51638449 A C rs137856838 MAGED1 Nonsynonymous SNV N116H 0.003 0.005 0 0 3 2 0 0 0 1 0 0 11.06 188909 chrX 54224945 54224945 C T rs782629234 WNK3 Nonsynonymous SNV V1682I 0.003 0.005 0 0 3 2 0 0 0 1 0 0 22.2 188910 chr3 14770153 14770153 G A rs138616841 C3orf20 Nonsynonymous SNV R511Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.184 188911 chr1 242035514 242035514 T G rs142556885 EXO1 Nonsynonymous SNV F483C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 188912 chr9 123907578 123907578 A G CNTRL Synonymous SNV L523L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.313 188913 chrX 114425199 114425199 G A rs186941925 RBMXL3 Nonsynonymous SNV A399T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 188914 chr11 55371438 55371438 C T OR4C11 Nonsynonymous SNV V138I 0.002 0.003 0 0 2 1 0 0 1 0 0 0 1.849 188915 chr5 71493005 71493005 C T rs760949739 MAP1B Nonsynonymous SNV R1149C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.2 188916 chr3 37583941 37583941 C T rs61751647 ITGA9 Synonymous SNV D518D 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 13.5 188917 chr9 127549323 127549323 C T OLFML2A Nonsynonymous SNV R54W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 188918 chr10 101835695 101835695 G A CPN1 Synonymous SNV P131P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.39 188919 chrX 128645833 128645833 C A SMARCA1 Nonsynonymous SNV R253L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 188920 chr1 248366579 248366579 C T rs768597426 OR2M3 Synonymous SNV D70D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.386 188921 chrX 136648985 136648993 CGCCGCCGC - rs749833589 ZIC3 A53_A55del 0.001 0 0 0 1 0 0 0 0 0 0 0 188922 chr2 1499966 1499966 C G rs200796513 TPO Nonsynonymous SNV Q565E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 0.005 188923 chr3 44396278 44396278 T - rs1053296244 TCAIM C3Afs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 188924 chr19 13221069 13221069 G C TRMT1 Nonsynonymous SNV R308G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 188925 chrX 153132233 153132233 C T rs36021462 L1CAM Nonsynonymous SNV V763I 0.003 0 0 0 4 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 23 188926 chr10 115602140 115602140 C T DCLRE1A Nonsynonymous SNV C876Y 0 0.003 0 0 0 1 0 0 0 0 0 0 32 188927 chr2 11736304 11736304 C T rs748440498 GREB1 Synonymous SNV L631L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.58 188928 chr10 119303047 119303047 C G EMX2 Nonsynonymous SNV P90R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 188929 chr11 20629043 20629043 T A SLC6A5 Nonsynonymous SNV L43Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 188930 chr19 15756530 15756530 T A rs147269202 CYP4F3 Nonsynonymous SNV I67N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 188931 chr11 21392433 21392433 G A rs144770031 NELL1 Synonymous SNV T471T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 188932 chr3 50137623 50137623 C T RBM5-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 188933 chr11 22384295 22384295 C T rs139443686 SLC17A6 Synonymous SNV A224A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.67 188934 chr19 15918793 15918793 - A OR10H1 Frameshift insertion V19Cfs*215 0 0 0.003 0 0 0 0 1 0 0 0 0 188935 chr3 50312448 50312448 G A rs369627145 SEMA3B Synonymous SNV S142S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.95 188936 chr2 25384028 25384028 G - rs768635909 POMC S243Pfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 188937 chr10 123976230 123976230 A G rs538432507 TACC2 Nonsynonymous SNV N556S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.503 188938 chr19 16279093 16279093 G T rs143049093 CIB3 Nonsynonymous SNV D18E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.66 188939 chr11 3037042 3037042 A T rs781761299 CARS Nonsynonymous SNV F569Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.1 188940 chr2 27435336 27435336 G A rs79602377 ATRAID 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 188941 chr11 34152464 34152464 C T rs148211973 NAT10 Nonsynonymous SNV T378M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 188942 chr6 114181026 114181046 GGCCGCCGCCGCTGCCCCCGA - MARCKS A92_A98del 0 0 0 1 0 0 0.003 0 0 0 0 0 188943 chr3 69168521 69168521 C A LMOD3 Nonsynonymous SNV A329S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 188944 chr2 39241107 39241107 G A rs56219475 SOS1 Nonsynonymous SNV P655L 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 Benign 14.59 188945 chr2 42284466 42284466 C G rs779204285 PKDCC Nonsynonymous SNV A443G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 188946 chr6 119177554 119177554 G A rs776462054 MCM9 Synonymous SNV T435T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.72 188947 chr11 1247949 1247949 G A rs1049302560 MUC5B Nonsynonymous SNV V102M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.98 188948 chr2 46313487 46313487 T C rs774827016 PRKCE Synonymous SNV H526H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.746 188949 chr19 20117977 20117977 G A rs750046588 ZNF682 Nonsynonymous SNV H80Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 188950 chr11 45932479 45932479 C G rs749785179 PEX16 Nonsynonymous SNV D308H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 26.6 188951 chr10 17142210 17142210 C T rs145380076 CUBN Nonsynonymous SNV R520Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.934 188952 chr10 17738779 17738779 C T STAM Nonsynonymous SNV P148L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 188953 chr11 5989055 5989055 T C rs375405523 OR56A5 Nonsynonymous SNV I224V 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 1.473 188954 chr19 2877594 2877594 T C ZNF556 Nonsynonymous SNV L212P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.968 188955 chr9 26923233 26923233 C A PLAA Nonsynonymous SNV D328Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 188956 chr11 613096 613096 C T rs377416331 IRF7 Nonsynonymous SNV R391Q 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 Uncertain significance 15.96 188957 chr3 118917942 118917942 C T rs115585818 UPK1B Synonymous SNV H229H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.9 188958 chr19 35449626 35449626 C T rs144100790 ZNF792 Nonsynonymous SNV R378H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.68 188959 chr2 73302715 73302715 C T rs200288307 RAB11FIP5 Synonymous SNV R632R 0.002 0.008 0.01 0 2 3 0 3 0 0 0 0 Likely benign 8.964 188960 chr6 152457795 152457795 C T rs118187988 SYNE1 Synonymous SNV E717E 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign/Likely benign 18.52 188961 chr11 4904033 4904033 C T rs201004265 OR51T1 Nonsynonymous SNV R302C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 188962 chr11 22257780 22257780 G T rs147121216 ANO5 Synonymous SNV L239L 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.964 188963 chr6 155055051 155055051 C T SCAF8 Nonsynonymous SNV T6I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 188964 chr2 85617282 85617282 G A rs138095100 ELMOD3 Synonymous SNV K279K 0 0.008 0 0 0 3 0 0 0 0 0 0 Likely benign 14.12 188965 chr11 64014116 64014116 C T PPP1R14B Synonymous SNV A10A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.28 188966 chr19 3746521 3746521 C T rs202047874 TJP3 Synonymous SNV I683I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 188967 chr8 145623739 145623739 C T rs149930456 CPSF1 Nonsynonymous SNV R616H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 188968 chr11 6588548 6588548 T C rs770492212 DNHD1 Synonymous SNV L3937L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 3.273 188969 chr2 101654051 101654051 G A rs571628625 TBC1D8 Synonymous SNV P450P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.231 188970 chr11 67205900 67205900 G A rs376930864 CORO1B Nonsynonymous SNV R473C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 188971 chr3 150690586 150690586 G A rs73155722 CLRN1-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 12.11 188972 chr8 21926938 21926938 G A rs200406300 DMTN Synonymous SNV A61A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.51 188973 chrX 102529210 102529210 G T rs764460948 TCEAL5 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.683 188974 chr10 69676242 69676242 T C SIRT1 Synonymous SNV A409A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.341 188975 chr11 56043294 56043294 G A rs145314711 OR5T1 Synonymous SNV P60P 0.003 0 0 0 3 0 0 0 0 0 0 0 5.185 188976 chrX 111914342 111914342 C A rs368000461 LHFPL1 Nonsynonymous SNV A93S 0.001 0 0 3 1 0 0.008 0 0 0 0 1 21.2 188977 chr2 120194682 120194682 A C rs200510439 TMEM37 Nonsynonymous SNV H80P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.598 188978 chr11 6898614 6898614 C T rs16919049 OR10A4 Nonsynonymous SNV L246F 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 25.3 188979 chr11 6942723 6942723 C T rs77720614 OR2D3 Nonsynonymous SNV S164F 0.003 0.008 0.003 3 4 3 0.008 1 0 0 0 0 27.5 188980 chr11 6943179 6943179 C T rs115093724 OR2D3 Nonsynonymous SNV A316V 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 24 188981 chr11 6953615 6953615 G A rs35111903 ZNF215 Nonsynonymous SNV V38I 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 Benign 0.03 188982 chr11 6953859 6953859 T C rs61729853 ZNF215 Nonsynonymous SNV M119T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 Benign 15.46 188983 chrX 129759309 129759309 G A rs548319020 ENOX2 Synonymous SNV F575F 0.001 0 0.01 0 1 0 0 3 0 0 1 0 7.688 188984 chr2 133540751 133540751 C T rs780179773 NCKAP5 Synonymous SNV P1211P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.95 188985 chr2 136626389 136626389 C T rs201215953 MCM6 Nonsynonymous SNV R136H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 188986 chr6 33652242 33652242 G C rs773625734 ITPR3 Synonymous SNV R1682R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.61 188987 chr2 152319650 152319650 A G RIF1 Nonsynonymous SNV T1206A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 188988 chr19 45570746 45570757 AGCCGCAGCCGC - rs566205384 CLASRP R464_S467del 0 0 0.003 0 0 0 0 1 0 0 0 0 188989 chr19 45716340 45716340 C G rs768632277 EXOC3L2 Nonsynonymous SNV R406P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 188990 chr19 47424606 47424606 G A rs201565056 ARHGAP35 Nonsynonymous SNV A892T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 188991 chr11 57156096 57156096 G A rs147596433 PRG2 Nonsynonymous SNV A140V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 188992 chr2 166773791 166773791 G A rs201527373 TTC21B Synonymous SNV D625D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.396 188993 chr11 5906373 5906373 T C OR52E4 Nonsynonymous SNV V284A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 188994 chrX 36053951 36053951 T C CFAP47 Nonsynonymous SNV V1264A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 188995 chr2 171242737 171242737 A C MYO3B Synonymous SNV T443T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 188996 chr8 8875885 8875885 A G rs149850300 ERI1 Nonsynonymous SNV T143A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.4 188997 chr19 50172125 50172125 T G rs199837123 BCL2L12 Nonsynonymous SNV L126R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.6 188998 chr2 179401720 179401720 G C TTN Nonsynonymous SNV F24307L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.68 188999 chr12 100042482 100042482 T C rs137864081 FAM71C Nonsynonymous SNV V177A 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 11.57 189000 chr12 100711589 100711589 A G rs143625787 SCYL2 Synonymous SNV L427L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 6.786 189001 chr2 182780166 182780166 A G rs147121882 ITPRID2 Nonsynonymous SNV N447S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 189002 chr11 6265449 6265449 G A rs142546205 CNGA4 Nonsynonymous SNV R513H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 34 189003 chr11 1018552 1018552 G A rs777781211 MUC6 Nonsynonymous SNV P1417S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 189004 chr12 107208552 107208552 C A RIC8B Nonsynonymous SNV R55S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 189005 chr11 1024911 1024911 C T rs765187032 MUC6 Nonsynonymous SNV R1053Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 27.6 189006 chr12 109703079 109703079 T C ACACB Synonymous SNV A2369A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.795 189007 chr9 116811229 116811229 C T rs375459435 ZNF618 Synonymous SNV I516I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.335 189008 chr11 64789215 64789215 G A rs146832019 ARL2 Nonsynonymous SNV R121H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 189009 chr11 64808803 64808803 C T SAC3D1 Synonymous SNV D13D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 189010 chr2 201354912 201354912 - CGTGGC rs764546547 KCTD18 T397_R398insAT 0 0.003 0 0 0 1 0 0 0 0 0 0 189011 chr2 201438086 201438086 C T rs115050184 SGO2 Nonsynonymous SNV A1006V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.048 189012 chr2 201438497 201438497 A G rs16833776 SGO2 Nonsynonymous SNV H1143R 0 0.005 0 0 0 2 0 0 0 0 0 0 7.888 189013 chr2 201505835 201505835 C T rs113275102 AOX1 Synonymous SNV N861N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.49 189014 chr10 108589336 108589336 C T rs148756974 SORCS1 Nonsynonymous SNV R241H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 189015 chr12 112110571 112110571 G A rs989023764 BRAP Nonsynonymous SNV A214V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 31 189016 chr2 202938358 202938358 C T rs61742176 KIAA2012 Nonsynonymous SNV T3M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 12.47 189017 chr2 203061732 203061732 G C KIAA2012 Nonsynonymous SNV E1133Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 189018 chr1 95530570 95530570 C A rs139758313 ALG14 Nonsynonymous SNV G47V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 189019 chr11 6585736 6585736 G A DNHD1 Synonymous SNV L3486L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.017 189020 chr12 11420988 11420988 G T rs71455369 PRB3 Synonymous SNV G65G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.065 189021 chr10 116602798 116602798 C T rs775942395 FAM160B1 Nonsynonymous SNV P210L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.36 189022 chr11 6592963 6592963 T C rs757729783 DNHD1 Nonsynonymous SNV L4670S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 189023 chr19 55221898 55221898 G C rs117347111 LILRP2 0 0 0.027 0 0 0 0 8 0 0 1 0 3.326 189024 chr19 55221901 55221901 G A rs117696142 LILRP2 0 0 0.024 0 0 0 0 7 0 0 1 0 2.42 189025 chr12 120611928 120611928 T C rs766257963 GCN1 Nonsynonymous SNV Q380R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 189026 chr1 109824326 109824326 G A rs148605172 PSRC1 Nonsynonymous SNV T145M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 189027 chr11 59415281 59415281 G A rs764012388 PATL1 Synonymous SNV L613L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.72 189028 chr11 68029915 68029915 G A rs769156319 C11orf24 Nonsynonymous SNV T183I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.917 189029 chr12 122218821 122218821 C A RHOF Nonsynonymous SNV R143L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 189030 chr19 55895247 55895247 G T rs1046039328 TMEM238 Synonymous SNV A127A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.239 189031 chr2 219495411 219495411 C G PLCD4 Nonsynonymous SNV H386Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 189032 chr2 219868816 219868816 T C rs146427311 CFAP65 Nonsynonymous SNV K1805E 0 0.005 0.003 0 0 2 0 1 0 0 0 0 3.264 189033 chr11 7021541 7021541 C T rs374861820 ZNF214 Nonsynonymous SNV R458H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 189034 chr19 57723195 57723195 A G rs776243794 ZNF264 Nonsynonymous SNV T244A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.792 189035 chr11 62494185 62494185 G A rs201613956 HNRNPUL2 Synonymous SNV G148G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.058 189036 chr2 225244702 225244702 C T FAM124B Nonsynonymous SNV R319Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.11 189037 chr19 58338244 58338251 TTTATTTA - rs151208523 FKBP1AP1 0 0 0.007 0 0 0 0 2 0 0 0 0 189038 chr10 135088995 135088995 G A rs746493987 ADAM8 Nonsynonymous SNV S48F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 189039 chr10 135163650 135163650 A G rs1036886229 PRAP1 Synonymous SNV A20A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.111 189040 chr11 6423873 6423873 T C rs1800425 APBB1 Nonsynonymous SNV N176S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 189041 chr12 21620504 21620504 T - PYROXD1 F144Sfs*9 0 0.003 0 1 0 1 0.003 0 0 0 0 0 189042 chr1 154560602 154560602 G A rs151241634 ADAR Synonymous SNV N711N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.179 189043 chr11 65147628 65147628 A G rs778534097 SLC25A45 Nonsynonymous SNV L19P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 28.3 189044 chr10 19612948 19612948 C T MALRD1 Nonsynonymous SNV L1164F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.44 189045 chr19 6755179 6755179 C T rs139813452 SH2D3A Nonsynonymous SNV R215Q 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 26.1 189046 chr11 134182360 134182360 G C rs192482533 GLB1L3 Nonsynonymous SNV A469P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 189047 chr11 65637701 65637701 G C EFEMP2 Nonsynonymous SNV D166E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.3 189048 chr11 92086662 92086662 A G rs16917409 FAT3 Nonsynonymous SNV I462V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 189049 chr11 92901294 92901294 C T rs143476889 SLC36A4 Nonsynonymous SNV S60N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.746 189050 chr11 93430335 93430335 G A rs200132094 CEP295 Nonsynonymous SNV E753K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.86 189051 chr11 94039759 94039759 C T rs190232057 IZUMO1R Synonymous SNV N73N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.42 189052 chr2 238277603 238277603 G A rs115551245 COL6A3 Synonymous SNV D894D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.227 189053 chr7 127253916 127253916 G A rs61749955 PAX4 Synonymous SNV V152V 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Likely benign 0.196 189054 chr2 241536341 241536341 C T rs771697646 CAPN10 Synonymous SNV I575I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 189055 chr2 241663404 241663404 C T rs200126737 KIF1A Nonsynonymous SNV A1335T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.7 189056 chr2 242207024 242207024 T A rs116445550 HDLBP Nonsynonymous SNV T14S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 4.53 189057 chr2 242312655 242312655 C T rs61739735 FARP2 Nonsynonymous SNV H45Y 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 13.32 189058 chr19 9025606 9025606 C G MUC16 Nonsynonymous SNV R12283T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.515 189059 chr12 10601984 10601984 C T rs758138016 KLRC1 Nonsynonymous SNV R96H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.102 189060 chr12 49498618 49498618 A C rs150339977 LMBR1L Nonsynonymous SNV L81R 0 0.005 0 0 0 2 0 0 0 0 0 0 29.7 189061 chr3 8988941 8988941 T C RAD18 Nonsynonymous SNV I77V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 189062 chr11 75379235 75379235 G A rs923429258 MAP6 Synonymous SNV P60P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.387 189063 chr9 34311173 34311173 T C rs749554247 KIF24 Nonsynonymous SNV I58V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 189064 chr1 167095131 167095131 G C DUSP27 Nonsynonymous SNV V255L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.41 189065 chr7 141464107 141464107 C T rs775697730 TAS2R3 Nonsynonymous SNV T50I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.211 189066 chr19 9869378 9869378 T C rs760896022 ZNF846 Synonymous SNV E125E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.018 189067 chr1 10068261 10068261 A G rs145618174 RBP7 Nonsynonymous SNV T95A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 189068 chr1 100949960 100949960 A G rs140849467 CDC14A Nonsynonymous SNV I71V 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Likely benign 12.23 189069 chr10 61868656 61868656 G C rs55680239 ANK3 Synonymous SNV P169P 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign/Likely benign 1.118 189070 chr12 120114357 120114357 C T PRKAB1 Nonsynonymous SNV P183L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.2 189071 chr4 183522108 183522108 C G rs190272851 TENM3 Synonymous SNV T181T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 9.322 189072 chr3 37034151 37034151 G A rs758804690 EPM2AIP1 Synonymous SNV L140L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.007 189073 chr12 123970320 123970320 G A rs370215117 RILPL1 Synonymous SNV D278D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.865 189074 chr3 39188112 39188112 G A rs771288688 CSRNP1 Nonsynonymous SNV S41F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 189075 chr1 184853849 184853849 G A rs3737948 NIBAN1 Synonymous SNV H173H 0.003 0 0 0 4 0 0 0 0 0 0 0 10.13 189076 chr1 185119613 185119613 C A TRMT1L Nonsynonymous SNV A120S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.08 189077 chr10 76858794 76858794 C T rs541006547 DUSP13 Synonymous SNV S134S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.57 189078 chr3 44636157 44636157 G A rs199538006 ZNF660 Nonsynonymous SNV G158R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 189079 chr7 16505221 16505221 T A SOSTDC1 Stop gain K25X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 189080 chr10 81372080 81372080 C T rs151242911 SFTPA1 Nonsynonymous SNV P62L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 22.5 189081 chr12 132682368 132682368 C T rs576774990 GALNT9 Nonsynonymous SNV R179Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 189082 chr10 85910464 85910464 G A GHITM 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 189083 chr1 13839735 13839735 C T rs574429504 LRRC38 Synonymous SNV Q118Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.623 189084 chr1 13839759 13839759 G A rs901752055 LRRC38 Synonymous SNV D110D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.17 189085 chr1 14057584 14057584 C T rs143175897 PRDM2 Synonymous SNV F33F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 189086 chr12 133331305 133331305 T C ANKLE2 Nonsynonymous SNV Y199C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 189087 chr12 133331614 133331614 G C ANKLE2 Stop gain S96X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 189088 chr12 6572006 6572006 G A rs71584837 VAMP1 Nonsynonymous SNV R115W 0.003 0.005 0 5 4 2 0.013 0 0 0 0 0 Benign 21.1 189089 chr12 13906757 13906757 G T rs36031537 GRIN2B Synonymous SNV I168I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.694 189090 chr12 108912953 108912953 G A rs368740716 FICD Nonsynonymous SNV V360I 0.003 0 0 0 4 0 0 0 0 0 0 0 28.3 189091 chr1 145586680 145586680 G A rs149130451 NUDT17 Nonsynonymous SNV P299L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 189092 chr12 109182506 109182506 T C rs764147382 SSH1 Nonsynonymous SNV N803S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 189093 chr12 15718548 15718548 G A rs755475846 PTPRO Synonymous SNV K72K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 189094 chr12 6886965 6886965 C T LAG3 Nonsynonymous SNV R437C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 189095 chr12 6925294 6925294 T C rs11064419 CD4 Nonsynonymous SNV F48S 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 23.4 189096 chr12 6925313 6925313 G T rs10849525 CD4 Synonymous SNV T54T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 4.495 189097 chr12 6925325 6925325 G A rs28919569 CD4 Synonymous SNV E58E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 8.098 189098 chr1 205138729 205138729 T G DSTYK Nonsynonymous SNV M296L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 189099 chr1 151811136 151811136 C A rs564914374 C2CD4D Synonymous SNV P110P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.58 189100 chr12 7045894 7045894 - CAGCAG ATN1 Q502_H503insQQ 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 189101 chr12 112036755 112036755 - TGCTGCTGCTGCTGCTGCTGCTGT ATXN2 Q28_P29insQQQQQQQQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 189102 chr12 22214267 22214267 A G CMAS Nonsynonymous SNV N281D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.06 189103 chr12 7175762 7175762 G C rs150549869 C1S Nonsynonymous SNV E233Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.038 189104 chr12 113376434 113376434 G A OAS3 Synonymous SNV L33L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.281 189105 chr3 52404527 52404527 G A rs373906923 DNAH1 Nonsynonymous SNV R2098H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.66 189106 chr3 52420751 52420751 A C rs199602894 DNAH1 Nonsynonymous SNV K2962T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 27.2 189107 chr3 52434455 52434457 ACT - DNAH1 Y4265del 0 0.003 0 0 0 1 0 0 0 0 0 0 189108 chr1 154999130 154999130 G C rs779656157 DCST2 Nonsynonymous SNV D468E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 189109 chr12 29936638 29936638 G A TMTC1 Nonsynonymous SNV P16L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 189110 chr3 54952728 54952728 G A rs753133757 LRTM1 Stop gain R190X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 189111 chr12 8075486 8075486 C T rs370365830 SLC2A3 Synonymous SNV A401A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.64 189112 chr7 43687217 43687217 C T rs751652291 COA1 Nonsynonymous SNV R11Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.099 189113 chr3 58191257 58191257 A G rs757664587 DNASE1L3 Synonymous SNV Y87Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 189114 chr1 156882687 156882687 C A rs774507033 PEAR1 Synonymous SNV R779R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 189115 chr12 121707364 121707364 C T rs202021993 CAMKK2 Synonymous SNV K180K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.49 189116 chr1 159166009 159166009 A C rs142783373 CADM3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.044 189117 chr1 222715408 222715408 C A HHIPL2 Nonsynonymous SNV G355V 0.003 0 0 0 3 0 0 0 0 0 0 0 33 189118 chr12 48110681 48110681 G A rs137896461 ENDOU Synonymous SNV C118C 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 9.396 189119 chr10 103296324 103296324 A G rs752199397 BTRC Synonymous SNV A471A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.84 189120 chr10 104136132 104136132 G A rs142215780 GBF1 Synonymous SNV P1330P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.44 189121 chr1 171130316 171130316 G A rs200384864 FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.779 189122 chr1 17294860 17294860 C T rs746194466 CROCC Nonsynonymous SNV R1675C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 189123 chr3 120449618 120449618 C T rs141368384 RABL3 Synonymous SNV S21S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.81 189124 chr12 20522782 20522782 C T rs770891751 PDE3A Synonymous SNV L188L 0.003 0 0 0 4 0 0 0 0 0 0 0 16.12 189125 chr1 173873176 173873176 C A rs121909548 SERPINC1 Nonsynonymous SNV A416S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27 189126 chr1 229783308 229783308 G A rs143163378 URB2 Nonsynonymous SNV G1320R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.08 189127 chr11 57087744 57087744 G A rs372306903 TNKS1BP1 Synonymous SNV P179P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.94 189128 chr10 115366016 115366016 T A rs77072919 NRAP Nonsynonymous SNV D1207V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 25.2 189129 chr7 73477970 73477970 - CTCGGAGGA rs374813147 ELN G570_V571insGLG 0.003 0 0 2 3 0 0.005 0 0 0 0 0 189130 chr3 121351213 121351213 C T HCLS1 Synonymous SNV E365E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.818 189131 chr12 21799890 21799890 T C LDHB Nonsynonymous SNV M64V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.3 189132 chr11 117073906 117073906 C T rs145478823 TAGLN Synonymous SNV G59G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.16 189133 chr10 115422448 115422448 G A rs115585400 NRAP Nonsynonymous SNV A82V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 13.56 189134 chr1 178514373 178514373 C G rs778439508 C1orf220 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 189135 chr3 124646398 124646398 G A MUC13 Synonymous SNV T164T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.108 189136 chr10 124339217 124339217 C T rs149788698 DMBT1 Nonsynonymous SNV A268V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 189137 chr3 129023521 129023521 G C HMCES Nonsynonymous SNV K264N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 189138 chr3 130282041 130282041 G A rs762739997 COL6A6 Nonsynonymous SNV R65H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 189139 chr10 126715804 126715805 CT - rs141864737 CTBP2 Q175Rfs*45 0.003 0 0 0 4 0 0 0 0 0 0 0 189140 chr12 48144935 48144935 G A rs61733250 RAPGEF3 Synonymous SNV P147P 0.011 0.005 0.003 5 13 2 0.013 1 0 0 0 0 7.552 189141 chr12 57112119 57112119 G C rs201859253 NACA Synonymous SNV P1065P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.443 189142 chr11 61313647 61313647 G A rs779291562 SYT7 Nonsynonymous SNV P99L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.48 189143 chr3 137890518 137890518 G A rs150586900 DBR1 Synonymous SNV I120I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.73 189144 chr12 6181529 6181529 G A rs71582884 VWF Synonymous SNV P359P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.465 189145 chr12 50501536 50501536 G A rs746425080 GPD1 Nonsynonymous SNV G244R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.1 189146 chr3 147108756 147108756 C A rs17509456 ZIC4 Synonymous SNV S116S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 189147 chr11 126326327 126326327 C T rs371602299 KIRREL3 Synonymous SNV S255S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.64 189148 chr11 128709447 128709447 T A KCNJ1 Nonsynonymous SNV N250I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 189149 chr12 5153946 5153946 G C rs35853292 KCNA5 Nonsynonymous SNV E211D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.97 189150 chr12 665740 665740 C T rs139630531 B4GALNT3 Synonymous SNV N696N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.87 189151 chr3 153202405 153202405 A G rs375779497 C3orf79 0 0.003 0 0 0 1 0 0 0 0 0 0 0.704 189152 chr11 63683061 63683061 G C rs749806083 RCOR2 Synonymous SNV T50T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.748 189153 chr11 1651228 1651228 - TGTGG rs756646522 KRTAP5-5 Frameshift insertion G54Vfs*199 0 0.01 0 5 0 4 0.013 0 0 1 0 2 189154 chr1 205180622 205180622 C G rs140909469 DSTYK Synonymous SNV S14S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 18.86 189155 chr12 7045296 7045296 C T rs781966372 ATN1 Nonsynonymous SNV P289L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 189156 chr12 70932007 70932007 A G rs774092097 PTPRB Synonymous SNV D1650D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.17 189157 chr10 25312156 25312156 C G rs201231585 THNSL1 Nonsynonymous SNV L2V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.84 189158 chr3 180379675 180379675 T C rs368618125 CCDC39 Nonsynonymous SNV I111V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.682 189159 chr11 198508 198508 G A rs368075834 ODF3 Nonsynonymous SNV V153I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 189160 chr3 183755844 183755844 C T rs149999721 HTR3D Synonymous SNV Y59Y 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.41 189161 chr12 9000236 9000236 G A rs200673370 A2ML1 Nonsynonymous SNV R101Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.1 189162 chr12 53900566 53900566 C T NPFF Synonymous SNV K115K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.62 189163 chr5 161524670 161524670 G A rs61735412 GABRG2 Synonymous SNV A118A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign/Likely benign 10.58 189164 chr11 218907 218907 G A rs74477499 SIRT3 Synonymous SNV H144H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.144 189165 chr12 57571324 57571324 C T rs35238544 LRP1 Synonymous SNV N1437N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.49 189166 chr14 20876359 20876359 C T TEP1 Synonymous SNV Q80Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.95 189167 chr3 189689692 189689692 A G rs34620268 P3H2 Nonsynonymous SNV F421L 0 0.003 0 0 0 1 0 0 0 0 0 0 23 189168 chr12 57604193 57604193 T C rs35874791 LRP1 Synonymous SNV G4228G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.171 189169 chr11 30921117 30921117 G A rs377445738 DCDC1 Nonsynonymous SNV T683I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.99 189170 chr12 97330487 97330487 A G rs145495750 NEDD1 Nonsynonymous SNV Y184C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 189171 chr11 32979628 32979628 T C rs200024758 QSER1 Synonymous SNV D1655D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.641 189172 chr13 100635008 100635016 CCACCACCA - rs768424424 ZIC2 H237_H239del 0.001 0 0 0 1 0 0 0 0 0 0 0 189173 chr11 33677612 33677612 G T rs182871600 KIAA1549L Nonsynonymous SNV V1939L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 189174 chr5 178421518 178421518 - CGGGGGG GRM6 Frameshift insertion E143Afs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 189175 chr13 103387457 103387457 G A CCDC168 Nonsynonymous SNV P5197L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23 189176 chr10 50827803 50827803 G A rs758005278 CHAT Synonymous SNV Q22Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.354 189177 chr12 6762432 6762432 G A rs768182564 ING4 Synonymous SNV D56D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.58 189178 chr14 24002689 24002689 C G ZFHX2 Nonsynonymous SNV G616R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 189179 chr11 45891669 45891669 C T CRY2 Synonymous SNV S359S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.39 189180 chr14 24600929 24600929 C T rs140861707 FITM1 Nonsynonymous SNV R53W 0 0.008 0.003 0 0 3 0 1 0 0 0 0 33 189181 chr4 1019075 1019076 CT - rs759055320 FGFRL1 H489Lfs*62 0 0.003 0 0 0 1 0 0 0 0 0 0 189182 chr14 24976658 24976658 T C rs763060029 CMA1 Nonsynonymous SNV Y38C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.4 189183 chr11 75694476 75694476 A G rs61761610 UVRAG Nonsynonymous SNV N249D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.38 189184 chr6 10586481 10586481 C A rs11966400 GCNT2 Nonsynonymous SNV P87T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.35 189185 chr11 47611878 47611878 G A C1QTNF4 Nonsynonymous SNV A162V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.23 189186 chr10 70741316 70741316 C T rs141397392 DDX21 Synonymous SNV T619T 0.005 0 0 0 6 0 0 0 0 0 0 0 19.81 189187 chr14 38310659 38310659 T G rs144192109 TTC6 Nonsynonymous SNV Y404D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 189188 chr6 13620501 13620501 C G rs370712203 NOL7 Nonsynonymous SNV Q188E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 189189 chr4 3318570 3318570 A G rs7679941 RGS12 Nonsynonymous SNV I225V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.721 189190 chr4 3519917 3519917 T C rs35108689 LRPAP1 Nonsynonymous SNV I199V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.028 189191 chr12 8673807 8673807 T C rs779497834 CLEC4D Synonymous SNV D196D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.014 189192 chr14 50623760 50623760 G T rs34139502 SOS2 Nonsynonymous SNV L672I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 24 189193 chr13 28611336 28611336 G A rs201905189 FLT3 Nonsynonymous SNV T432M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 189194 chr4 5667323 5667323 G A rs140800339 EVC2 Synonymous SNV L228L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.102 189195 chr13 30077139 30077139 G A rs201396320 MTUS2 Synonymous SNV S281S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.37 189196 chr12 9075260 9075260 G A PHC1 Nonsynonymous SNV R163Q 0.005 0 0 1 6 0 0.003 0 0 0 0 0 32 189197 chr1 2460944 2460944 - GCG rs559739405 HES5 A155_H156insA 0 0 0.007 0 0 0 0 2 0 0 0 0 189198 chr4 6304093 6304093 C T rs915821827 WFS1 Synonymous SNV T857T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.091 189199 chr14 55457987 55457987 G A rs140961762 WDHD1 Nonsynonymous SNV R306W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.5 189200 chr14 56107664 56107664 A G rs200602571 KTN1 Nonsynonymous SNV H666R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.65 189201 chr2 85041097 85041097 A G rs963370639 DNAH6 Nonsynonymous SNV T4001A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 19.8 189202 chr4 8079430 8079430 G A rs202123060 ABLIM2 Synonymous SNV C200C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.224 189203 chr13 100622667 100622667 - GGCGGC ZIC5 P424_A425insPP 0.003 0 0 0 3 0 0 0 0 0 0 0 189204 chr13 42877455 42877455 G A rs61755976 AKAP11 Nonsynonymous SNV G1525S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.08 189205 chr13 43528125 43528125 T C rs35004437 EPSTI1 Synonymous SNV Q47Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 189206 chr13 43643126 43643126 A C rs61733777 DNAJC15 Nonsynonymous SNV K74T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 189207 chr4 8621111 8621111 C T rs147183461 CPZ Nonsynonymous SNV R565C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 189208 chr1 248129167 248129167 G A rs41308166 OR2AK2 Synonymous SNV V178V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.942 189209 chr14 64989027 64989027 G A rs199815620 ZBTB1 Nonsynonymous SNV G269S 0 0.008 0.007 0 0 3 0 2 0 0 0 0 0.233 189210 chr4 15964327 15964327 C G rs750668613 FGFBP2 Nonsynonymous SNV Q142H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 189211 chr14 69521854 69521854 G A rs1127817 DCAF5 Nonsynonymous SNV R516W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.5 189212 chr4 25314449 25314449 T C ZCCHC4 Synonymous SNV N6N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.107 189213 chr4 25672369 25672369 A G rs79937695 SLC34A2 Nonsynonymous SNV K280E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 10.07 189214 chr13 113729347 113729347 C T rs149849745 MCF2L Synonymous SNV D346D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 8.923 189215 chr14 70245123 70245123 C T rs201290531 SLC10A1 Nonsynonymous SNV M290I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Uncertain significance 17.83 189216 chr13 113976604 113976604 G A LAMP1 Synonymous SNV E374E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.53 189217 chr1 28835201 28835201 C T rs150540883 SNORA73B 0 0 0.01 0 0 0 0 3 0 0 0 0 15.05 189218 chr14 75265835 75265835 A G rs201653503 YLPM1 Nonsynonymous SNV N1279D 0 0.005 0 0 0 2 0 0 0 0 0 0 5.104 189219 chr11 55860953 55860953 C T OR8I2 Nonsynonymous SNV T57I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.38 189220 chr1 33772885 33772885 A G A3GALT2 Nonsynonymous SNV W169R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 189221 chr13 26151251 26151251 G A rs202089005 ATP8A2 Nonsynonymous SNV R546Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.42 189222 chr14 102550184 102550184 C T rs113261380 HSP90AA1 Synonymous SNV A428A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.19 189223 chr4 48548107 48548107 G C rs199805371 FRYL Synonymous SNV T1752T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.69 189224 chr4 52895881 52895881 C T rs201439705 SGCB Nonsynonymous SNV R131Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.5 189225 chr14 102698079 102698079 - GA rs10659524 MOK Frameshift insertion N82Sfs*17 0.002 0 0 0 2 0 0 0 0 0 0 0 189226 chr13 31540436 31540436 C T rs193234818 TEX26 Stop gain R52X 0.004 0 0 1 5 0 0.003 0 0 0 0 0 39 189227 chr2 128263067 128263067 G A IWS1 Nonsynonymous SNV L138F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 189228 chr8 65493647 65493647 C T rs774732671 BHLHE22 Synonymous SNV V100V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.23 189229 chr1 39876907 39876907 G C KIAA0754 Nonsynonymous SNV D324H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 189230 chr6 54025577 54025577 T C rs372090902 MLIP Synonymous SNV L292L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.114 189231 chr1 41094517 41094517 G A RIMS3 Nonsynonymous SNV L227F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 189232 chr1 41157221 41157221 G - rs111365038 NFYC-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 189233 chr6 70847634 70847634 G A COL19A1 Nonsynonymous SNV E481K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 189234 chr1 46295147 46295147 G C rs202109232 MAST2 Nonsynonymous SNV S121T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 189235 chr8 99441203 99441203 C T rs145439108 KCNS2 Synonymous SNV L332L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.226 189236 chr9 100409817 100409817 G T rs146305083 NCBP1 Nonsynonymous SNV A152S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 21 189237 chr6 89868055 89868055 - G PM20D2 Frameshift insertion G310Wfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 189238 chr12 123286115 123286115 A G rs149451449 CCDC62 Synonymous SNV P474P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.19 189239 chr11 103126164 103126164 G A rs909974664 DYNC2H1 Synonymous SNV Q3409Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.212 189240 chr13 75936525 75936525 G A rs763815183 TBC1D4 Synonymous SNV I239I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.64 189241 chr11 1055240 1055240 C G rs539661299 LINC02688 0.001 0 0 0 1 0 0 0 0 0 0 0 3.151 189242 chr12 125398108 125398108 C T rs753379050 UBC Synonymous SNV V70V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.732 189243 chr12 125398119 125398119 G A rs758146234 UBC Synonymous SNV L67L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.046 189244 chr13 97639686 97639686 G A rs780108189 OXGR1 Nonsynonymous SNV R110C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 189245 chr14 100405574 100405574 C T rs538724960 EML1 Synonymous SNV A744A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.29 189246 chr4 95377601 95377601 G A rs184992170 PDLIM5 Synonymous SNV S101S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.182 189247 chr11 6007837 6007837 G A rs370634023 OR52L1 Synonymous SNV H108H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.461 189248 chr9 114394003 114394003 A G rs766627561 DNAJC25, DNAJC25-GNG10 Nonsynonymous SNV T106A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 189249 chr2 179404197 179404197 T C rs55977045 TTN Synonymous SNV E23800E 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.45 189250 chr2 179414992 179414992 T C rs72648244 TTN Nonsynonymous SNV I21460V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 10.65 189251 chr14 105060723 105060723 G A rs566089387 TMEM179 Nonsynonymous SNV R178W 0.006 0 0 1 7 0 0.003 0 0 0 0 0 0.651 189252 chr11 117779366 117779366 T A TMPRSS13 Nonsynonymous SNV I380F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 189253 chr4 113539487 113539487 A C rs139269532 ZGRF1 Nonsynonymous SNV C571G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.151 189254 chr11 119065642 119065642 C G CCDC153 Nonsynonymous SNV D43H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 189255 chr6 129704280 129704280 C T LAMA2 Nonsynonymous SNV T1658I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 23.1 189256 chr11 62554599 62554599 G A rs756526363 TAF6L Nonsynonymous SNV R567Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 189257 chr11 62561877 62561877 T G NXF1 Nonsynonymous SNV N538T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 189258 chr4 123748020 123748020 C G rs979153928 FGF2 Nonsynonymous SNV N30K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 189259 chr6 133100493 133100493 C T SLC18B1 Nonsynonymous SNV V237I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.183 189260 chr11 63535980 63535980 C T rs988744598 C11orf95 Nonsynonymous SNV A39T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.173 189261 chr4 128851858 128851858 T C rs138219028 MFSD8 Synonymous SNV G221G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.012 189262 chr9 126144074 126144074 G A DENND1A Synonymous SNV A900A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.913 189263 chr11 123893987 123893987 G A rs28734900 OR10G9 Nonsynonymous SNV A90T 0.001 0 0.02 0 1 0 0 6 0 0 2 0 0.001 189264 chr15 48441546 48441546 G A MYEF2 Synonymous SNV N443N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 189265 chr4 142053728 142053728 C T RNF150 Nonsynonymous SNV E79K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 189266 chr4 145633206 145633206 T C rs202162458 HHIP Nonsynonymous SNV I469T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.66 189267 chr14 58954826 58954826 A G rs777965178 KIAA0586 Nonsynonymous SNV I1036V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.418 189268 chr14 24787760 24787760 T C ADCY4 Synonymous SNV T1032T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.934 189269 chr15 63358109 63358109 T G rs752883071 TPM1 Nonsynonymous SNV F227V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 20.3 189270 chr11 129980433 129980433 A T rs770017443 APLP2 Nonsynonymous SNV M94L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 189271 chr14 36230087 36230087 A G RALGAPA1 Synonymous SNV H165H 0.003 0 0 0 3 0 0 0 0 0 0 0 5.921 189272 chr11 134183892 134183892 C G rs201379499 GLB1L3 Nonsynonymous SNV S546C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.31 189273 chr15 66853376 66853376 C T rs753737192 LCTL Nonsynonymous SNV G52S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.6 189274 chr12 51685576 51685576 T C rs1001746149 BIN2 Synonymous SNV T384T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.349 189275 chr15 75116809 75116809 G A rs146826349 LMAN1L Nonsynonymous SNV V481M 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 8.07 189276 chr14 52781812 52781812 C T rs141336040 PTGER2 Synonymous SNV C182C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.11 189277 chr14 77951117 77951117 G C rs77472100 ISM2 Nonsynonymous SNV P96R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.73 189278 chr5 6714602 6714602 C T rs559941746 TENT4A Nonsynonymous SNV P169L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.11 189279 chr15 83440955 83440955 T C rs1008377496 FSD2 Synonymous SNV P379P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.033 189280 chr7 6548015 6548015 G A rs750799828 GRID2IP Synonymous SNV D715D 0.003 0 0 0 4 0 0 0 0 0 0 0 8.307 189281 chr20 32996484 32996484 A T ITCH Nonsynonymous SNV K33M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 189282 chr20 34147309 34147309 G A rs551469371 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.935 189283 chr11 3143638 3143638 G A rs184161220 OSBPL5 Synonymous SNV N80N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.503 189284 chr5 32089732 32089732 C T rs765263510 PDZD2 Nonsynonymous SNV H2060Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 189285 chr15 86697678 86697678 A T AGBL1 Stop gain K94X 0.006 0.008 0 0 7 3 0 0 0 0 0 0 39 189286 chr15 89056230 89056230 A G DET1 Synonymous SNV T535T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.535 189287 chr11 33620471 33620471 G A KIAA1549L Synonymous SNV K1619K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 189288 chr20 3686589 3686589 G A rs765469377 SIGLEC1 Stop gain Q170X 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 189289 chr20 37383750 37383750 A G rs368018075 ACTR5 Nonsynonymous SNV N309S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.5 189290 chr5 35793313 35793313 G A rs199996012 SPEF2 Nonsynonymous SNV R1536Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 189291 chr14 74970198 74970198 C T rs767058096 LTBP2 Nonsynonymous SNV R1565H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.7 189292 chr20 4229558 4229558 G C rs766749377 ADRA1D Nonsynonymous SNV P16R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.85 189293 chr12 58196041 58196041 C T rs200254571 AVIL Nonsynonymous SNV G685S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 189294 chr15 22833654 22833654 G A rs150671482 TUBGCP5 Nonsynonymous SNV A44T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 24 189295 chr9 35045760 35045760 A C rs768625683 C9orf131 Nonsynonymous SNV Y1010S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.694 189296 chr7 26894405 26894405 T C rs140223829 SKAP2 Nonsynonymous SNV I58V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 189297 chr7 29132249 29132249 C T rs778367687 CPVL Nonsynonymous SNV D118N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.328 189298 chr11 45246013 45246013 G T rs760294482 PRDM11 Nonsynonymous SNV V330F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.3 189299 chr14 81610299 81610299 G A rs28937584 TSHR Nonsynonymous SNV D633N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25 189300 chr9 5534897 5534897 C T rs576049863 PDCD1LG2 Nonsynonymous SNV R70C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 189301 chr20 49214121 49214121 G A rs749791315 RIPOR3 Nonsynonymous SNV L596F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 189302 chr12 10167916 10167916 A G rs750265151 CLEC12B Nonsynonymous SNV T159A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 189303 chr12 6887444 6887444 G A LAG3 Nonsynonymous SNV G489E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 189304 chr16 112986 112986 G A rs375429801 RHBDF1 Synonymous SNV A219A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.844 189305 chr12 70983956 70983956 A G rs36027530 PTPRB Nonsynonymous SNV V395A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 189306 chr5 70855826 70855826 C A BDP1 Nonsynonymous SNV Q2420K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 189307 chr20 56285377 56285377 C T rs565030204 NKILA 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 9.771 189308 chr15 41149071 41149071 C T rs750171118 SPINT1 Synonymous SNV H480H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.374 189309 chr15 41863253 41863253 C T rs909036764 TYRO3 Nonsynonymous SNV R488W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 189310 chr12 109183013 109183013 G C SSH1 Nonsynonymous SNV A634G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.93 189311 chr15 42147493 42147493 C T rs534436454 SPTBN5 Nonsynonymous SNV D3118N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 189312 chr16 14540909 14540909 C T PARN Nonsynonymous SNV R521K 0 0.008 0 1 0 3 0.003 0 0 0 0 0 23.4 189313 chr3 12777081 12777081 G A rs763000143 TMEM40 Nonsynonymous SNV P143S 0.008 0.005 0 2 9 2 0.005 0 0 0 0 0 28 189314 chr3 12942784 12942784 G A rs770769839 IQSEC1 Nonsynonymous SNV P1015S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.315 189315 chr15 44955830 44955830 C T rs200573434 SPG11 Nonsynonymous SNV G6R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.13 189316 chr5 79745505 79745505 C G ZFYVE16 Nonsynonymous SNV L1067V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 189317 chr20 61143308 61143308 G A rs142850609 MIR1-1HG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.71 189318 chr16 1828317 1828317 C T SPSB3 Nonsynonymous SNV D104N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 189319 chr5 90002209 90002209 G C ADGRV1 Nonsynonymous SNV E2910Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 189320 chrX 106096826 106096826 A T TBC1D8B Nonsynonymous SNV E733D 0 0 0 2 0 0 0.005 0 0 0 0 1 0.138 189321 chr5 95091234 95091234 G A rs780226430 RHOBTB3 Nonsynonymous SNV V273I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 189322 chr15 34628731 34628731 C T SLC12A6 Nonsynonymous SNV V51M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.4 189323 chr5 96498812 96498812 G - RIOK2 Q538Kfs*36 0 0.003 0 0 0 1 0 0 0 0 0 0 189324 chr5 99871462 99871462 G A rs745626051 FAM174A Synonymous SNV P76P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 189325 chr16 22182168 22182168 C T rs201626437 SDR42E2 Nonsynonymous SNV R341W 0 0.01 0 1 0 4 0.003 0 0 0 0 0 24.4 189326 chr16 2347863 2347863 G A rs767451709 ABCA3 Synonymous SNV I652I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.86 189327 chr21 30963448 30963448 A G rs73197503 GRIK1 Nonsynonymous SNV I293T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 189328 chr13 114514753 114514753 G A rs372877893 TMEM255B Synonymous SNV S238S 0.004 0.005 0 6 5 2 0.015 0 0 0 0 0 6.922 189329 chr13 114538515 114538515 G A rs145586332 GAS6 Nonsynonymous SNV A228V 0.004 0.008 0.01 5 5 3 0.013 3 0 0 0 0 Benign 9.863 189330 chr16 2983384 2983384 G A rs368841077 FLYWCH1 Synonymous SNV T350T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 6.711 189331 chr15 73615173 73615173 G A rs537717251 HCN4 Synonymous SNV S1087S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.746 189332 chr21 42748864 42748864 C T rs147479623 MX2 Nonsynonymous SNV R11W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 189333 chr5 138728040 138728040 C T rs758805636 PROB1 Nonsynonymous SNV G911R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 189334 chr3 49688355 49688355 C T BSN Nonsynonymous SNV T610I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.105 189335 chr13 35733179 35733179 C T NBEA Synonymous SNV Y957Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.339 189336 chr16 4457668 4457668 C T rs35623946 CORO7, CORO7-PAM16 Synonymous SNV L89L 0 0.003 0 6 0 1 0.015 0 0 0 0 0 8.666 189337 chr5 140250488 140250488 A C rs182770106 PCDHA11 Synonymous SNV S600S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.001 189338 chrX 75003718 75003718 T A MAGEE2 Nonsynonymous SNV Q390L 0 0 0 2 0 0 0.005 0 0 0 0 1 23.4 189339 chr12 26877653 26877653 T C rs150639698 ITPR2 Nonsynonymous SNV K101R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 189340 chr12 27148324 27148324 G C rs34735713 TM7SF3 Nonsynonymous SNV P179R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 15.09 189341 chr12 27450671 27450671 G T rs56140810 STK38L Synonymous SNV G6G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 9.311 189342 chr21 47662660 47662660 T C MCM3AP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.15 189343 chrY 6931970 6931970 G C rs779272811 TBL1Y Nonsynonymous SNV E79D 0 0 0 2 0 0 0.005 0 0 0 0 1 22.7 189344 chr12 3042634 3042634 C T rs145294361 TULP3 Synonymous SNV Y249Y 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 12.21 189345 chr3 52841795 52841795 T C ITIH3 Nonsynonymous SNV V765A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.54 189346 chr5 141336977 141336977 C A rs759794990 PCDH12 Nonsynonymous SNV S147I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 189347 chr15 89870429 89870429 T C rs145843073 POLG Nonsynonymous SNV N468D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.396 189348 chr22 21153433 21153433 G T rs150004135 PI4KA Nonsynonymous SNV P629H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 189349 chr12 46245772 46245772 A G rs374577612 ARID2 Nonsynonymous SNV H1289R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.531 189350 chr15 66015253 66015253 T C rs199813601 DENND4A Nonsynonymous SNV I507M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.31 189351 chr22 22316911 22316911 C T rs146766833 TOP3B Nonsynonymous SNV R472Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.06 189352 chr16 67964442 67964442 G A rs145332055 CTRL Nonsynonymous SNV T123M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 189353 chr16 68279441 68279441 C A rs777074961 PLA2G15 Nonsynonymous SNV P38T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 189354 chr15 90903603 90903603 G A rs371635300 ZNF774 Synonymous SNV T180T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.306 189355 chr11 6024001 6024001 G T rs141110808 OR56A4 Synonymous SNV I74I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.657 189356 chr16 69364439 69364439 G T PDF Nonsynonymous SNV P12Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 189357 chr5 150846761 150846761 C G rs35204299 SLC36A1 Nonsynonymous SNV R141G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 189358 chr16 70697672 70697672 G A rs772001802 MTSS2 Nonsynonymous SNV P718S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 189359 chr22 29456507 29456507 C T rs772453778 C22orf31 Nonsynonymous SNV D110N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 189360 chr16 71748551 71748551 - GGT rs753937652 PHLPP2 T49_S50insT 0 0.003 0 0 0 1 0 0 0 0 0 0 189361 chr5 156376719 156376719 C T TIMD4 Nonsynonymous SNV D235N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 189362 chr16 72821619 72821621 CCG - rs751575363 ZFHX3 G2613del 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 189363 chr16 12162944 12162944 C G rs151208037 SNX29 Nonsynonymous SNV T425R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.47 189364 chr16 74937863 74937863 G A WDR59 Synonymous SNV S616S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.05 189365 chr7 138579116 138579116 G A KIAA1549 Nonsynonymous SNV T1335I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 189366 chr16 19725575 19725575 G A rs71384425 KNOP1 Synonymous SNV D261D 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 0.085 189367 chr5 176911078 176911078 G A rs140100672 PDLIM7 Synonymous SNV C388C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.199 189368 chr5 177546849 177546849 C T rs146962131 N4BP3 Nonsynonymous SNV R89W 0.001 0.008 0 0 1 3 0 0 0 0 0 0 33 189369 chr12 56077730 56077730 A T rs113734960 METTL7B Nonsynonymous SNV D211V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.05 189370 chr12 56094743 56094743 C T rs76770808 ITGA7 Nonsynonymous SNV A204T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.27 189371 chr12 56814418 56814418 T G rs56087575 TIMELESS Nonsynonymous SNV M1054L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 189372 chr12 56825262 56825262 C T TIMELESS Nonsynonymous SNV G271S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.38 189373 chr16 27483208 27483208 C T rs147847492 GTF3C1 Nonsynonymous SNV V1463I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.021 189374 chr14 24566261 24566261 G A rs10132601 PCK2 Nonsynonymous SNV D64N 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Likely benign 22.3 189375 chr12 57626261 57626261 A G rs754320831 SHMT2 Nonsynonymous SNV N186S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 189376 chr14 24601465 24601465 G A rs11574504 FITM1 Synonymous SNV G104G 0.009 0.005 0 4 10 2 0.01 0 0 0 0 0 Benign 2.51 189377 chr14 24614618 24614618 G A rs61737105 PSME2 Synonymous SNV P67P 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 Benign 11.16 189378 chr22 46403320 46403320 C T rs115353123 LOC730668 0 0 0.003 0 0 0 0 1 0 0 0 0 6.25 189379 chr7 155150655 155150655 G A BLACE 0.002 0 0 0 2 0 0 0 0 0 0 0 0.051 189380 chr14 24739206 24739206 C G RABGGTA Nonsynonymous SNV R127P 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 32 189381 chr15 93480825 93480825 A G CHD2 Nonsynonymous SNV K174R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.81 189382 chr14 24798347 24798347 G A rs75601666 ADCY4 Synonymous SNV L482L 0.008 0.005 0 3 9 2 0.008 0 0 0 0 0 10.47 189383 chr16 30133266 30133266 G A rs749779624 MAPK3 Nonsynonymous SNV H78Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 189384 chr16 30941519 30941519 - TCCTCC FBXL19 S328_D329insSS 0.001 0 0 0 1 0 0 0 0 0 0 0 189385 chr6 24718880 24718880 G C rs140541841 C6orf62 Nonsynonymous SNV S6C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 189386 chr16 1510455 1510455 G A rs147280414 CLCN7 Synonymous SNV F162F 0.006 0 0 1 7 0 0.003 0 0 0 0 0 Uncertain significance 9.872 189387 chr6 26093183 26093183 T C HFE Nonsynonymous SNV I116T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.106 189388 chr16 3487444 3487444 G T rs912725557 ZNF597 Synonymous SNV P85P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.083 189389 chr8 10467066 10467066 G A rs773430949 RP1L1 Synonymous SNV C1514C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 6.661 189390 chr2 108869805 108869805 G A rs140329992 SULT1C3 Synonymous SNV L102L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.472 189391 chr16 3706721 3706721 C T rs776444658 DNASE1 Nonsynonymous SNV P135S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 189392 chr6 28213019 28213019 G C ZKSCAN4 Nonsynonymous SNV H350D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 189393 chr16 1817233 1817233 G A MAPK8IP3 Nonsynonymous SNV D1051N 0.006 0 0 1 7 0 0.003 0 0 0 0 0 28.5 189394 chr3 156192598 156192598 C G rs746326557 KCNAB1 Nonsynonymous SNV T205S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 189395 chr12 86373535 86373535 A T MGAT4C Nonsynonymous SNV N323K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.05 189396 chr16 48155680 48155680 A G rs144608314 ABCC12 Synonymous SNV F553F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.267 189397 chr6 35428345 35428345 C T rs141551053 FANCE Nonsynonymous SNV P445S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 20.3 189398 chr16 20976551 20976551 G A rs149030165 DNAH3 Synonymous SNV C2839C 0.003 0 0 4 4 0 0.01 0 0 0 0 0 0.372 189399 chr6 37280716 37280716 C T rs41272218 TBC1D22B Synonymous SNV D335D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 189400 chr16 55527101 55527101 C T rs201437071 MMP2 Synonymous SNV G406G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.66 189401 chr2 136418868 136418868 A G rs139502420 R3HDM1 Nonsynonymous SNV H523R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.3 189402 chr2 147346258 147346258 G C rs201992881 PABPC1P2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 189403 chr6 42893229 42893229 C T rs201876282 PTCRA Nonsynonymous SNV R112C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.392 189404 chr16 58562497 58562497 T C CNOT1 Nonsynonymous SNV D2107G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 189405 chr16 2980431 2980431 T C rs761017441 FLYWCH1 Nonsynonymous SNV F116L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.05 189406 chr6 43100208 43100208 C T rs373121667 PTK7 Synonymous SNV S345S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.06 189407 chr6 43100307 43100307 C T rs772741245 PTK7 Synonymous SNV Y378Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 189408 chr16 2983835 2983835 C T rs761681964 FLYWCH1 Synonymous SNV A456A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.64 189409 chr2 152411548 152411548 C T rs375182306 NEB Nonsynonymous SNV R4741Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 189410 chr14 75265546 75265546 A G rs771833239 YLPM1 Synonymous SNV P1182P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.146 189411 chr16 67293485 67293485 G A SLC9A5 Nonsynonymous SNV V445I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 189412 chr2 153526836 153526836 G A PRPF40A Synonymous SNV N537N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 189413 chr13 108882462 108882462 A G rs766302360 ABHD13 Nonsynonymous SNV N299S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 189414 chr16 684935 684935 T G rs138791784 METTL26 Nonsynonymous SNV I128L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.01 189415 chr2 160086735 160086735 C T rs958759735 TANC1 Nonsynonymous SNV R1399W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 189416 chr14 77919710 77919710 C T rs756648423 VIPAS39 Nonsynonymous SNV R43Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 189417 chr14 77942264 77942264 G A rs202155629 ISM2 Nonsynonymous SNV R464C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.5 189418 chr2 160750508 160750508 A G LY75, LY75-CD302 Nonsynonymous SNV L185P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 189419 chr16 702524 702524 G A rs79682438 WDR90 Nonsynonymous SNV G371S 0.001 0 0.003 5 1 0 0.013 1 0 0 0 0 Benign 13.02 189420 chr16 3591835 3591835 A G rs763490860 NLRC3 Nonsynonymous SNV V1063A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 26.7 189421 chr12 108913117 108913117 C T FICD Synonymous SNV F414F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.824 189422 chr17 35880294 35880296 TTC - rs752024471 SYNRG E1061del 0 0.003 0 0 0 1 0 0 0 0 0 0 189423 chr8 55541316 55541316 T G rs754370596 RP1 Nonsynonymous SNV I1625R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.031 189424 chr2 170177304 170177304 G A rs115350461 LRP2 Nonsynonymous SNV A57V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 189425 chr2 171260816 171260816 G A rs201316029 MYO3B Synonymous SNV P779P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 189426 chr16 47644782 47644782 A G rs771367256 PHKB Nonsynonymous SNV Y470C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.1 189427 chr12 110293477 110293477 A G GLTP Nonsynonymous SNV Y132H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 28.3 189428 chr16 766952 766952 C T rs112288908 METRN Synonymous SNV S175S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.44 189429 chr17 38561079 38561079 C T TOP2A Synonymous SNV E670E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.82 189430 chr16 774338 774338 G A rs61998209 CCDC78 Synonymous SNV L313L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.18 189431 chr16 780510 780510 C T rs34851515 CIAO3 Synonymous SNV L446L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.06 189432 chr16 780517 780517 T C rs7188554 CIAO3 Nonsynonymous SNV H444R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 189433 chr12 113545033 113545033 A G RASAL1 Nonsynonymous SNV I509T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 189434 chr14 99641690 99641690 C T rs61756332 BCL11B Nonsynonymous SNV A423T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 189435 chr16 82124606 82124606 T C rs780303631 HSD17B2 Nonsynonymous SNV I255T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 189436 chr6 84234391 84234391 G T rs200639755 PRSS35 Nonsynonymous SNV A411S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.092 189437 chr6 84303335 84303335 C T rs201061359 SNAP91 Nonsynonymous SNV A401T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.6 189438 chr6 90365505 90365505 G A rs369754670 MDN1 Synonymous SNV D5156D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.926 189439 chr8 110416851 110416851 A G rs561436144 PKHD1L1 Nonsynonymous SNV Y481C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.664 189440 chr17 39465209 39465209 A C KRTAP16-1 Nonsynonymous SNV C99W 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 189441 chr16 58750624 58750624 C T rs368352559 GOT2 Nonsynonymous SNV E223K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 189442 chr8 113259322 113259322 G T CSMD3 Nonsynonymous SNV H3183Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24.1 189443 chr16 84270618 84270618 C T rs761232653 KCNG4 Synonymous SNV E158E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 189444 chr16 66944188 66944188 C T rs372828832 CDH16 Synonymous SNV R617R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.15 189445 chr16 66947091 66947091 C T rs140402697 CDH16 Nonsynonymous SNV V236M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.832 189446 chr16 66947448 66947448 A G rs146486731 CDH16 Synonymous SNV N186N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.016 189447 chr16 66974391 66974391 T G rs111381920 CES2 Synonymous SNV A203A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.912 189448 chr16 67235972 67235972 G A rs201999429 ELMO3 Synonymous SNV A381A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 3.183 189449 chr8 121327820 121327820 C T rs769549841 COL14A1 Nonsynonymous SNV P1534S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 189450 chr4 8207059 8207059 G A rs753772918 SH3TC1 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.124 189451 chr16 67270328 67270328 T G rs56026046 FHOD1 Nonsynonymous SNV Q443H 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 16.03 189452 chr16 67327470 67327470 C T rs73592842 KCTD19 Nonsynonymous SNV S732N 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 12.24 189453 chr16 67578258 67578258 G A rs140855098 RIPOR1 Nonsynonymous SNV R890H 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 20.7 189454 chr17 39927946 39927946 G A rs782529328 JUP Nonsynonymous SNV T54M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 17.66 189455 chr6 108882450 108882450 G A rs781708741 FOXO3 Synonymous SNV P13P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.502 189456 chr6 109274355 109274355 G A rs537724118 ARMC2 Synonymous SNV T407T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.791 189457 chr17 41226387 41226387 C T rs28897691 BRCA1 Nonsynonymous SNV D1499N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 6.256 189458 chr2 203420137 203420137 C A rs755765731 BMPR2 Nonsynonymous SNV N583K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 189459 chr6 116981908 116981908 A G rs145364204 ZUP1 Nonsynonymous SNV F25L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.31 189460 chr16 71713348 71713348 G A rs145216542 PHLPP2 Synonymous SNV L327L 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 11.7 189461 chr2 206994901 206994901 T C NDUFS1 Nonsynonymous SNV N429S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 189462 chr2 20701184 20701184 A C rs342087 LOC107985856 0 0 0.007 0 0 0 0 2 0 0 1 0 7.8 189463 chr2 20701192 20701192 T C rs342086 LOC107985856 0 0 0.003 0 0 0 0 1 0 0 0 0 8.112 189464 chr2 20701242 20701242 C A rs342085 LOC107985856 0 0 0.007 0 0 0 0 2 0 0 1 0 3.778 189465 chr2 20974586 20974586 C T rs114010802 LDAH Nonsynonymous SNV R21Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 13.25 189466 chr6 133070891 133070891 C T VNN2 Synonymous SNV E217E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.01 189467 chr17 48503676 48503676 G T rs189328884 ACSF2 Synonymous SNV S18S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.665 189468 chr17 48503677 48503677 G T rs182270758 ACSF2 Nonsynonymous SNV G19W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 189469 chr17 15964893 15964893 A G NCOR1 Synonymous SNV S1901S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.76 189470 chr6 146276398 146276398 G A rs755637808 SHPRH Nonsynonymous SNV L21F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 189471 chr17 48669144 48669144 G A CACNA1G Nonsynonymous SNV R895Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 189472 chr17 4889271 4889271 G T CAMTA2 Nonsynonymous SNV S15R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 189473 chr17 17968508 17968508 A T rs754791891 GID4 Nonsynonymous SNV N285I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 189474 chr2 222365855 222365855 A G rs144077750 EPHA4 Synonymous SNV D236D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.426 189475 chr12 3788198 3788198 T G rs34088152 CRACR2A Nonsynonymous SNV H136P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.979 189476 chr17 18186096 18186096 T C TOP3A Nonsynonymous SNV D551G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 189477 chr17 54543825 54543825 T G rs145526038 ANKFN1 Nonsynonymous SNV F559V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.43 189478 chr15 65982899 65982899 G A rs201142419 DENND4A Nonsynonymous SNV H1301Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.26 189479 chr17 56599121 56599121 G C rs148239346 SEPTIN4 Synonymous SNV P198P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.003 189480 chr15 68583325 68583325 C T rs768506639 FEM1B Synonymous SNV N543N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.876 189481 chr6 157405828 157405828 G A rs201290874 ARID1B Synonymous SNV T677T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.85 189482 chr6 159052862 159052862 C T rs185734564 TMEM181 Nonsynonymous SNV P594L 0 0.003 0 0 0 1 0 0 0 0 0 0 35 189483 chr17 61561893 61561893 G A rs760201372 ACE Nonsynonymous SNV E638K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.39 189484 chr17 21319127 21319127 C T rs782309264 KCNJ12, KCNJ18 Nonsynonymous SNV A158V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 189485 chr17 10267671 10267671 T C MYH13 Synonymous SNV K59K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.825 189486 chr17 10427905 10427905 T C MYH2 Nonsynonymous SNV N1685D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.2 189487 chr17 10432735 10432735 G C rs142586585 MYH2 Nonsynonymous SNV L1061V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.11 189488 chr14 35522656 35522656 C T rs147961973 FAM177A1 Nonsynonymous SNV P113L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 189489 chr2 239007209 239007209 T C rs36131256 UBE2F-SCLY 0 0 0.007 0 0 0 0 2 0 0 1 0 1.748 189490 chr17 12887883 12887883 C T rs561178275 ARHGAP44 Nonsynonymous SNV P453S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.6 189491 chr17 14204922 14204922 G A rs201337138 HS3ST3B1 Synonymous SNV V29V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.97 189492 chr17 6945705 6945705 C G rs201095648 SLC16A11 Nonsynonymous SNV A242P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 25.3 189493 chr17 33331497 33331497 G A rs151264739 LIG3 Nonsynonymous SNV R1001Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 189494 chr11 12247783 12247783 A G rs149267916 MICAL2 Nonsynonymous SNV E585G 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 24.6 189495 chr2 241815411 241815411 T C rs140992177 AGXT Nonsynonymous SNV I279T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 23.3 189496 chr17 1637437 1637437 C T rs372716005 WDR81 Synonymous SNV F499F 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Likely benign 11.72 189497 chr17 33591316 33591316 T C SLFN5 Nonsynonymous SNV I418T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 189498 chr11 12316350 12316350 - CTC MICALCL P470_T471insP 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 189499 chr14 50583070 50583070 G A rs779506907 VCPKMT Synonymous SNV S67S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.08 189500 chr9 36170272 36170272 T G rs759463744 CCIN Nonsynonymous SNV M258R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.404 189501 chr7 4218154 4218154 C T rs148700747 SDK1 Synonymous SNV T165T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.99 189502 chr14 54417301 54417301 G A rs140590144 BMP4 Nonsynonymous SNV R226W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 189503 chr17 72943237 72943237 C T rs758729624 OTOP3 Synonymous SNV I411I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.31 189504 chr7 6550278 6550278 C T rs1041314777 GRID2IP Nonsynonymous SNV D539N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 189505 chr15 89873438 89873438 G T rs757917194 POLG Nonsynonymous SNV D243E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 189506 chr7 6736988 6736988 G C rs368915260 ZNF12 Nonsynonymous SNV L74V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.358 189507 chr17 37317554 37317554 A G rs61746599 ARL5C Synonymous SNV T102T 0.008 0.003 0.003 5 9 1 0.013 1 0 0 0 0 0.145 189508 chr7 20666235 20666235 G C rs17143187 ABCB5 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.7 189509 chr4 146695800 146695800 G A rs35479210 ZNF827 Synonymous SNV T906T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 13.27 189510 chr7 20685484 20685484 C A rs2074000 ABCB5 Nonsynonymous SNV Q262K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 31 189511 chr9 95610312 95610312 A G rs149458276 ZNF484 Nonsynonymous SNV F217L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 189512 chr9 95838254 95838254 C T rs370065626 SUSD3 Synonymous SNV L93L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.99 189513 chr17 39037017 39037017 T C rs148091209 KRT20 Nonsynonymous SNV E160G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.5 189514 chr14 67671545 67671545 G A rs138150502 FAM71D Synonymous SNV P217P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.754 189515 chr11 15134087 15134087 G A rs751795285 INSC Synonymous SNV Q24Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.226 189516 chr14 72169152 72169152 A G rs78375992 SIPA1L1 Synonymous SNV S1192S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.9 189517 chr17 30648412 30648412 C G RHBDL3 Synonymous SNV T426T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.827 189518 chr7 30638491 30638491 G A rs200887429 GARS1 Nonsynonymous SNV R47H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 189519 chr12 6887506 6887517 CCGGAGCCGGAA - rs779942686 LAG3 P520_E523del 0.001 0 0 0 1 0 0 0 0 0 0 0 189520 chr7 31003691 31003691 G A rs768888026 GHRHR Nonsynonymous SNV R3H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 189521 chr7 31124443 31124443 G A rs779140594 ADCYAP1R1 Nonsynonymous SNV R156H 0 0.003 0 0 0 1 0 0 0 0 0 0 26 189522 chr9 112900467 112900467 G A rs12338163 PALM2AKAP2 Synonymous SNV A739A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.229 189523 chr12 70974842 70974842 C T rs199512411 PTPRB Nonsynonymous SNV R543Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29 189524 chr4 177632737 177632738 GT - VEGFC T207Ffs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 189525 chr4 183673030 183673030 G A rs367732296 TENM3 Nonsynonymous SNV R1236H 0.003 0 0 0 4 0 0 0 0 0 0 0 23 189526 chr12 75807476 75807476 G A rs753871327 GLIPR1L2 Synonymous SNV A193A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.54 189527 chr9 115200777 115200777 A G rs143512191 HSDL2 Nonsynonymous SNV D149G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 189528 chr9 115651865 115651865 G A rs16917454 SLC46A2 Nonsynonymous SNV A366V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.2 189529 chr16 1840722 1840722 C T IGFALS Nonsynonymous SNV C604Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 4.096 189530 chr4 186084055 186084055 G A rs61729128 CFAP97 Nonsynonymous SNV T499M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 23.8 189531 chr12 7970553 7970553 G A rs145961696 SLC2A14 Synonymous SNV G297G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 189532 chr12 7981418 7981418 C A rs117702330 SLC2A14 Synonymous SNV P100P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.07 189533 chr17 41249263 41249263 G A rs1799965 BRCA1 Synonymous SNV C150C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 11.25 189534 chr17 35946538 35946538 G A rs369006069 SYNRG Synonymous SNV A120A 0.006 0 0 1 7 0 0.003 0 0 0 0 0 16.3 189535 chr2 70224004 70224004 G C PCBP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.587 189536 chr7 43827595 43827595 G A rs1802849 BLVRA Synonymous SNV A35A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.21 189537 chr17 42156027 42156027 T C HDAC5 Nonsynonymous SNV H1058R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 189538 chr14 86089161 86089161 A T rs78778736 FLRT2 Nonsynonymous SNV T435S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.352 189539 chr9 117186665 117186665 A G rs111033459 WHRN Synonymous SNV S104S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.695 189540 chr12 8672848 8672848 A G rs138110414 CLEC4D Synonymous SNV R137R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.284 189541 chr2 74762454 74762454 C T LOXL3 Nonsynonymous SNV G154E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 189542 chr14 94526797 94526797 G T rs150012797 DDX24 Synonymous SNV I520I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.419 189543 chr17 45745606 45745606 C G rs149283729 KPNB1 Nonsynonymous SNV L207V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 189544 chr17 47021315 47021315 G A SNF8 Nonsynonymous SNV T26M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 189545 chr16 31100090 31100090 - CACCC rs755037918 PRSS53 Frameshift insertion A14Gfs*43 0 0.003 0 1 0 1 0.003 0 0 0 0 0 189546 chr13 106124931 106124931 G A rs140575409 DAOA Nonsynonymous SNV G60R 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 12.3 189547 chr2 99439944 99439944 G A KIAA1211L Synonymous SNV N264N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 189548 chr17 5118254 5118254 C T rs770354379 SCIMP Synonymous SNV L76L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.813 189549 chr16 3544753 3544753 G A rs61732404 C16orf90 Synonymous SNV F57F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.54 189550 chr16 3613436 3613436 C T rs186879243 NLRC3 Nonsynonymous SNV R501Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.1 189551 chr17 54912285 54912285 G A rs139071284 DGKE Synonymous SNV Q43Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 10.53 189552 chr18 29102049 29102049 C T rs536617217 DSG2 Nonsynonymous SNV T176I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 189553 chr16 4043451 4043451 C T ADCY9 Nonsynonymous SNV A649T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.01 189554 chr15 34648397 34648397 G A NUTM1 Nonsynonymous SNV D720N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.213 189555 chr7 92732291 92732291 G A rs769042496 SAMD9 Synonymous SNV R1040R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.376 189556 chr16 5077157 5077157 C G rs149923128 NAGPA Nonsynonymous SNV G440A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.017 189557 chr17 60814389 60814389 C A rs781601917 MARCHF10 Nonsynonymous SNV L280F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 189558 chr7 94055130 94055130 C T rs142352627 COL1A2 Synonymous SNV P968P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.18 189559 chr17 60879085 60879085 G A rs555427942 MARCHF10 Synonymous SNV D4D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.67 189560 chr9 136597582 136597582 T C rs146886270 SARDH Nonsynonymous SNV N158S 0.003 0.003 0.003 6 3 1 0.015 1 0 0 0 0 Benign 3.48 189561 chr7 100465745 100465745 - G rs774628656 TRIP6 Frameshift insertion L88Pfs*37 0 0.003 0 0 0 1 0 0 0 0 0 0 189562 chr15 50925181 50925181 G A TRPM7 Nonsynonymous SNV P339L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.19 189563 chr17 54985832 54985832 C T TRIM25 Synonymous SNV V230V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 13.09 189564 chr15 51692407 51692407 C G rs148539600 GLDN Nonsynonymous SNV P155R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 189565 chr3 128722892 128722892 C A rs759442651 EFCC1 Synonymous SNV R318R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 189566 chr17 70644979 70644979 C T rs532763313 SLC39A11 Nonsynonymous SNV V305M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 189567 chr17 7077097 7077097 C T rs144566170 ASGR1 Nonsynonymous SNV E214K 0.003 0 0 0 3 0 0 0 0 0 0 0 33 189568 chr17 71196101 71196101 C G rs774720405 COG1 Synonymous SNV T337T 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Uncertain significance 0.894 189569 chr17 57812748 57812748 G C VMP1 Nonsynonymous SNV Q42H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.01 189570 chr17 71205859 71205861 TGC - rs779429474 FAM104A A90del 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 189571 chr9 140136997 140136997 C T rs147505429 TUBB4B Synonymous SNV G109G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.98 189572 chr15 55652723 55652723 A G rs372148713 CCPG1 Synonymous SNV N416N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.073 189573 chr13 76381777 76381777 C A LMO7 Nonsynonymous SNV A126D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.582 189574 chr16 74695025 74695025 C A rs756678157 RFWD3 Nonsynonymous SNV G108V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.509 189575 chr18 72020591 72020591 A C C18orf63 Synonymous SNV S363S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.003 189576 chr11 55861032 55861032 G A rs145057566 OR8I2 Synonymous SNV V83V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.565 189577 chr17 73237751 73237751 C G rs150145405 GGA3 Nonsynonymous SNV K136N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 189578 chr17 73269663 73269663 C T rs142956040 SLC25A19 Nonsynonymous SNV A278T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.891 189579 chr13 99127532 99127532 C T rs781024030 STK24 Synonymous SNV S118S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.32 189580 chr7 102098253 102098253 A C rs148824415 ALKBH4 Nonsynonymous SNV I166S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 27 189581 chr3 149485581 149485581 C T rs75855073 ANKUB1 Nonsynonymous SNV V290I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 20.9 189582 chr15 72190025 72190025 T G MYO9A Synonymous SNV R1607R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.09 189583 chr3 149629781 149629781 G A rs150196894 RNF13 Nonsynonymous SNV V54I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 19.36 189584 chr17 71197821 71197821 C G COG1 Nonsynonymous SNV Q619E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.4 189585 chr17 71203364 71203364 A C rs746795279 COG1 Nonsynonymous SNV K925T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.75 189586 chr7 105254338 105254338 C T rs533962188 ATXN7L1 Nonsynonymous SNV D691N 0 0.003 0 0 0 1 0 0 0 0 0 0 23 189587 chr5 112770343 112770343 G A TSSK1B Nonsynonymous SNV A65V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.65 189588 chr17 7533737 7533737 G A rs757764436 SHBG Nonsynonymous SNV A39T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.202 189589 chr10 24762291 24762291 G A rs61735605 KIAA1217 Synonymous SNV P45P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.883 189590 chr7 117396664 117396664 C A rs200975491 CTTNBP2 Nonsynonymous SNV S1080I 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 34 189591 chr19 11347525 11347525 C T rs199838752 DOCK6 Nonsynonymous SNV G702S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 189592 chr17 76803690 76803690 G A rs140328430 USP36 Nonsynonymous SNV P479L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.008 189593 chr3 172165973 172165973 G C rs202000049 GHSR Synonymous SNV T77T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.152 189594 chr19 13925643 13925643 C A ZSWIM4 Synonymous SNV R499R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.94 189595 chr7 137790073 137790073 C T rs34703687 AKR1D1 Synonymous SNV D159D 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 16.86 189596 chr3 184009964 184009964 C T rs201775833 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV R717W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 189597 chr17 79898879 79898879 C T rs532700062 MYADML2 Nonsynonymous SNV V247M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 189598 chr17 80130670 80130670 G A rs767301565 CCDC57 Stop gain R33X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 189599 chr7 143039483 143039483 T C rs141945240 CLCN1 Synonymous SNV V605V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 6.495 189600 chr19 16636213 16636213 C T rs767261577 CHERP Synonymous SNV P527P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.25 189601 chr7 143701162 143701162 G A rs145508293 OR6B1 Nonsynonymous SNV A25T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.027 189602 chr7 143747799 143747799 T C rs61741407 OR2A5 Nonsynonymous SNV F102S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 189603 chr7 143807454 143807454 T A rs114208499 OR2A2 Nonsynonymous SNV V260D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.96 189604 chr7 149508067 149508067 G T rs367572099 SSPO 0 0.003 0.007 0 0 1 0 2 0 0 0 0 4.815 189605 chr7 149508068 149508068 C T rs201739029 SSPO 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.37 189606 chr16 10855623 10855624 CA - NUBP1 Q232Dfs*32 0 0.003 0 0 0 1 0 0 0 0 0 0 189607 chr17 17050677 17050677 C T rs763613348 MPRIP Synonymous SNV Y567Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 189608 chr17 17698062 17698062 C T rs376596325 RAI1 Synonymous SNV S600S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.44 189609 chr14 38061542 38061542 G T rs374997841 FOXA1 Synonymous SNV G149G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.684 189610 chr17 18061172 18061172 G A rs769056130 MYO15A Synonymous SNV V2975V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.4 189611 chr19 17943490 17943490 G A rs200077579 JAK3 Nonsynonymous SNV R840C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 29.4 189612 chr18 20602153 20602153 G A rs140196819 RBBP8 Nonsynonymous SNV D807N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 189613 chr7 151093005 151093005 C T WDR86 Nonsynonymous SNV A195T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 189614 chr17 79094652 79094652 C T rs188835028 AATK Synonymous SNV P925P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.457 189615 chr16 1397791 1397791 C G rs185896119 BAIAP3 Nonsynonymous SNV H962Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 189616 chr18 21708927 21708927 A G rs767020034 TTC39C Nonsynonymous SNV N193D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 189617 chr10 71966066 71966066 C T rs372788606 PPA1 Nonsynonymous SNV S250N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.7 189618 chr16 1398480 1398481 CT - rs771000812 BAIAP3 *1117delinsSPSAASPGPGPHPKFPEASSSSLWPALCNQGPRRPSCAVTCVSWLAPRRLPPWPCLSGVCCEPLHPTPHLGGQLGRTWPAAAQDTVQARAGLTTWWASLPASLGSPALGGRWAAGLQGLSEWLCSLHNGQCADAFLVITAGE* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 189619 chr7 154754098 154754098 A G PAXIP1 Nonsynonymous SNV V687A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 189620 chr14 50319439 50319439 G A rs151210174 NEMF Synonymous SNV R11R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.83 189621 chr7 154862798 154862798 G A HTR5A Synonymous SNV A63A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 189622 chr7 154875912 154875912 C T rs145552975 HTR5A Synonymous SNV H263H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.905 189623 chr17 79512836 79512836 C T rs777046070 FAAP100 Nonsynonymous SNV R749Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.491 189624 chr3 36873494 36873494 G C rs201935836 TRANK1 Nonsynonymous SNV S2483C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 189625 chr14 52186969 52186969 G A FRMD6 Synonymous SNV G49G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.465 189626 chr17 80040213 80040213 G A rs200041873 FASN Synonymous SNV T1999T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.72 189627 chr10 76602897 76602897 G A rs569038847 KAT6B Synonymous SNV G94G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.155 189628 chr19 2210485 2210485 G C DOT1L Synonymous SNV V364V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.333 189629 chr3 42954793 42954793 G A rs113286469 ZNF662 Synonymous SNV P84P 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 7.56 189630 chr8 10465926 10465926 C T rs370532304 RP1L1 Synonymous SNV E1894E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 189631 chr18 43247950 43247950 A T rs747567318 SLC14A2 Nonsynonymous SNV M624L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.18 189632 chr14 67862233 67862233 C T rs377373834 PLEK2 Nonsynonymous SNV R92Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 189633 chr18 48190412 48190412 C T rs3752086 MAPK4 Synonymous SNV F28F 0.007 0 0 2 8 0 0.005 0 0 0 0 0 14.47 189634 chr8 11704617 11704617 T G rs114308907 CTSB Nonsynonymous SNV N122T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 27.7 189635 chr10 93390009 93390009 C A rs142799521 PPP1R3C Nonsynonymous SNV G210V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 189636 chr10 93601136 93601136 A G rs368882919 TNKS2 Synonymous SNV L590L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.903 189637 chr14 69966861 69966861 T A PLEKHD1 Nonsynonymous SNV L60H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 189638 chr19 33666370 33666370 C A WDR88 Stop gain C437X 0 0.003 0 2 0 1 0.005 0 0 0 0 0 36 189639 chr18 2707839 2707839 G C SMCHD1 Synonymous SNV G727G 0.003 0 0 2 4 0 0.005 0 0 0 0 0 8.19 189640 chr16 30667522 30667522 G A rs767608316 PRR14 Nonsynonymous SNV V550M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.008 189641 chr16 30671233 30671235 GAG - FBRS E135del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 189642 chr10 99126832 99126832 G A RRP12 Nonsynonymous SNV R905W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 189643 chr19 35757416 35757416 C T rs768494910 LSR Synonymous SNV D251D 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.18 189644 chr10 99531567 99531567 C T SFRP5 Synonymous SNV G8G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.1 189645 chr10 99531571 99531571 - CG rs751073674 SFRP5 Frameshift insertion G7Afs*80 0.001 0 0 0 1 0 0 0 0 0 0 0 189646 chr3 51315104 51315104 T C rs371369009 DOCK3 Synonymous SNV T914T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.935 189647 chr8 22386063 22386063 G A rs139802616 PPP3CC Nonsynonymous SNV E372K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 189648 chr16 336607 336607 G T PDIA2 Nonsynonymous SNV A432S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 189649 chr16 336608 336608 C T PDIA2 Nonsynonymous SNV A432V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 189650 chr16 3432952 3432952 T G rs144884509 ZSCAN32 Nonsynonymous SNV H376P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.58 189651 chr16 3767506 3767506 C A rs748315970 TRAP1 Nonsynonymous SNV A2S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.5 189652 chr8 24190262 24190262 A G rs201705688 ADAM28 Synonymous SNV Q457Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 189653 chr6 7884591 7884591 C T rs752305347 TXNDC5 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 189654 chr8 24256007 24256007 T A rs146781020 ADAMDEC1 Nonsynonymous SNV N156K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.022 189655 chr16 4431722 4431722 G A rs369420509 VASN Nonsynonymous SNV D282N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.316 189656 chr16 4496893 4496893 A G rs201017600 DNAJA3 Nonsynonymous SNV K182E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 189657 chr18 54353258 54353258 A G rs772132764 WDR7 Nonsynonymous SNV M198V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.019 189658 chr8 29194702 29194702 C T DUSP4 Synonymous SNV E342E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 189659 chr3 66433783 66433783 G C rs773026984 LRIG1 Nonsynonymous SNV S705C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 189660 chr8 33354188 33354188 C T MAK16 Synonymous SNV L190L 0 0.003 0 0 0 1 0 0 0 0 0 0 16 189661 chr16 55905609 55905609 G A rs766399736 CES5A Synonymous SNV F115F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.351 189662 chr16 56226648 56226648 - CG DKFZP434H168 0 0.003 0 0 0 1 0 0 0 0 0 0 189663 chr8 38287337 38287337 G A rs143241978 FGFR1 Nonsynonymous SNV A74V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.054 189664 chr8 42166460 42166460 C T rs201257343 IKBKB Synonymous SNV V201V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 20.4 189665 chr18 60645556 60645556 C T PHLPP1 Nonsynonymous SNV P1349L 0.003 0 0 0 3 0 0 0 0 0 0 0 28 189666 chr18 61627583 61627583 A T rs373353041 HMSD Nonsynonymous SNV Q138H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 189667 chr8 67039605 67039605 G A rs11991549 TRIM55 Synonymous SNV T34T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.284 189668 chr8 67066512 67066512 G A rs61745245 TRIM55 Synonymous SNV A489A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.772 189669 chr11 7960263 7960263 C T rs142623287 OR10A3 Nonsynonymous SNV E269K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.4 189670 chr8 69012021 69012021 T C rs141715219 PREX2 Synonymous SNV S886S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.074 189671 chr15 29561606 29561606 T C rs145058546 NSMCE3 Nonsynonymous SNV K102E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 189672 chr15 32928532 32928532 T C rs781351606 ARHGAP11A Nonsynonymous SNV S331P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 189673 chr8 75227832 75227832 C T rs761018173 JPH1 Nonsynonymous SNV G135R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 189674 chr8 75276306 75276306 C T GDAP1 Synonymous SNV L203L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.64 189675 chr19 41235195 41235195 G A rs562478696 ITPKC Synonymous SNV P448P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 189676 chr8 79717149 79717149 A G rs374385318 IL7 Synonymous SNV H3H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.85 189677 chr15 34647300 34647300 G C rs145376279 NUTM1 Nonsynonymous SNV E471Q 0.004 0 0 0 5 0 0 0 0 0 0 0 24 189678 chr4 106158350 106158350 A C rs75056899 TET2 Nonsynonymous SNV Q1084P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 8.113 189679 chr4 109477784 109477786 GAA - rs139966414 RPL34-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 189680 chr4 110384260 110384260 G A SEC24B Nonsynonymous SNV A113T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 189681 chr19 12799141 12799141 C T rs1033901789 GNG14 Synonymous SNV A93A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.807 189682 chr15 40594479 40594479 C T rs773669254 PLCB2 Synonymous SNV L148L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 189683 chr19 1456311 1456311 C A rs570789768 APC2 Nonsynonymous SNV L241M 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 18.71 189684 chr11 95825375 95825386 TGCTGCTGCTGC - rs751380626 MAML2 Q618_Q621del 0.006 0.005 0.007 4 7 2 0.01 2 1 0 1 0 189685 chr16 75646746 75646746 G A ADAT1 Synonymous SNV S59S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 189686 chr4 123855687 123855687 T C rs1020660439 SPATA5 Nonsynonymous SNV I313T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 189687 chr8 121354634 121354634 C G rs140154122 COL14A1 Nonsynonymous SNV Q1613E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 189688 chr19 11598621 11598621 C T rs763350285 ZNF653 Synonymous SNV A219A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.75 189689 chr8 136561022 136561022 A C rs753611149 KHDRBS3 Nonsynonymous SNV E117A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.1 189690 chr17 55189859 55189859 A G rs562043469 AKAP1 Synonymous SNV Q661Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.119 189691 chr12 10961741 10961741 G A rs141424860 TAS2R9 Nonsynonymous SNV P312S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 189692 chr19 13875821 13875821 G T rs201171443 MRI1 Nonsynonymous SNV R90L 0.002 0 0 0 2 0 0 0 0 0 0 0 31 189693 chr8 142367795 142367795 C T rs374341766 GPR20 Nonsynonymous SNV V77I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 189694 chr19 14204579 14204579 G C rs35635531 PRKACA Nonsynonymous SNV S340C 0.004 0 0 0 5 0 0 0 0 0 0 0 27.2 189695 chr19 14584756 14584756 A G rs74664087 PTGER1 Nonsynonymous SNV L126P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 189696 chr8 144413499 144413499 C T rs150542670 TOP1MT Nonsynonymous SNV E45K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.77 189697 chr19 1987170 1987170 T C rs756136868 BTBD2 Nonsynonymous SNV I422V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.75 189698 chr8 144644664 144644664 G T rs142168635 GSDMD Synonymous SNV S395S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.89 189699 chr4 184240981 184240981 C T rs144080557 CLDN22 Nonsynonymous SNV V131I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 189700 chr4 184426369 184426369 G A rs752052254 ING2 Synonymous SNV Q7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.948 189701 chr16 89016762 89016762 G - LOC100129697 R79Pfs*348 0 0.003 0 0 0 1 0 0 0 0 0 0 189702 chr16 89016764 89016829 CACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGGTCAGTTCACCCGTCCCCTGGACCGGCACCG - LOC100129697 H80_P101del 0 0.003 0 0 0 1 0 0 0 0 0 0 189703 chr12 11420941 11420941 G C rs61737269 PRB3 Nonsynonymous SNV P81R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 189704 chr8 144804042 144804042 G A rs374901309 MAPK15 Nonsynonymous SNV V484I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.097 189705 chr8 144940857 144940857 A T rs781956238 EPPK1 Nonsynonymous SNV S2189T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.795 189706 chr8 144942482 144942482 C T rs111830312 EPPK1 Nonsynonymous SNV R1647H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 189707 chr19 2416574 2416574 C T rs140247927 TMPRSS9 Nonsynonymous SNV A561V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.29 189708 chr4 187347954 187347954 T C rs13140715 F11-AS1 0 0 0.027 0 0 0 0 8 0 0 4 0 1.149 189709 chr16 89799939 89799939 G A rs141797932 ZNF276 Nonsynonymous SNV V444M 0 0.005 0 0 0 2 0 0 0 0 0 0 33 189710 chr8 144994656 144994656 C T rs188739870 PLEC Synonymous SNV G3097G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.408 189711 chr4 187542069 187542069 G A FAT1 Nonsynonymous SNV P1891S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 189712 chr6 105563677 105563677 A G rs41285458 BVES Nonsynonymous SNV L281P 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 22.6 189713 chr8 144998903 144998903 G A PLEC Synonymous SNV L1718L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.376 189714 chr19 33135265 33135265 C T rs376471915 ANKRD27 Nonsynonymous SNV R164Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.4 189715 chr17 10446262 10446262 G A rs370416173 MYH2 Synonymous SNV F278F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.8 189716 chr17 10534940 10534940 C T rs377092561 MYH3 Synonymous SNV K1758K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 16.33 189717 chr15 74623602 74623602 C T rs191686626 CCDC33 Nonsynonymous SNV P172L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.928 189718 chr17 12860002 12860002 G A rs201986436 ARHGAP44 Synonymous SNV S227S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.465 189719 chr17 12899999 12899999 G A rs746298894 ELAC2 Synonymous SNV P468P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.475 189720 chr17 12909099 12909099 C T rs147215643 ELAC2 Nonsynonymous SNV G241R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.3 189721 chr8 146033533 146033533 T G ZNF517 Nonsynonymous SNV L404R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 189722 chr9 382527 382527 C T DOCK8 Nonsynonymous SNV L806F 0 0.003 0 0 0 1 0 0 0 0 0 0 2.305 189723 chr19 36340506 36340506 A C rs115333628 NPHS1 Nonsynonymous SNV S220A 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.358 189724 chr4 40045708 40045708 C A rs544083032 LOC344967 0 0 0.003 0 0 0 0 1 0 0 0 0 7.695 189725 chr17 18023225 18023225 C A rs200382813 MYO15A Nonsynonymous SNV P371T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 7.257 189726 chr4 419565 419565 C T rs7666919 ABCA11P 0 0 0.014 0 0 0 0 4 0 0 2 0 5.907 189727 chr17 18219940 18219940 C T rs779480053 SMCR8 Synonymous SNV S279S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.541 189728 chr19 21300207 21300208 AT - rs770230099 ZNF714 H246Qfs*13 0.003 0 0 0 4 0 0 0 0 0 0 0 189729 chr17 73738668 73738668 C T rs548339809 ITGB4 Nonsynonymous SNV R930W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 189730 chr19 52376508 52376508 G A rs200962137 ZNF577 Synonymous SNV S245S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.157 189731 chr19 38091969 38091969 C T ZNF540 Synonymous SNV C65C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.25 189732 chr9 18889671 18889671 A G rs756681951 ADAMTSL1 Nonsynonymous SNV N1523S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.005 189733 chr19 38958451 38958451 G A rs545579559 RYR1 Nonsynonymous SNV R1127H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 26.4 189734 chr9 34657530 34657530 G T rs747761133 IL11RA Nonsynonymous SNV V198L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.86 189735 chr9 34993356 34993356 G A rs569881828 DNAJB5 Synonymous SNV E114E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.493 189736 chr19 39876979 39876979 G A rs56222321 PAF1 Synonymous SNV S416S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.894 189737 chr17 26708249 26708249 C T rs782740767 SARM1 Synonymous SNV G165G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 189738 chr19 54395022 54395022 G A rs553245210 PRKCG Synonymous SNV T208T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 189739 chr19 33892682 33892682 G A rs199621901 PEPD Synonymous SNV A263A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.71 189740 chr19 34859496 34859496 C T rs758597177 GPI Synonymous SNV A97A 0.004 0 0 0 5 0 0 0 0 0 0 0 11.46 189741 chr19 35633635 35633635 C T rs61753924 FXYD1 Nonsynonymous SNV R90C 0.003 0 0.01 0 4 0 0 3 0 0 0 0 32 189742 chr19 55399537 55399537 G A rs150824019 FCAR Synonymous SNV P66P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.522 189743 chr17 79094693 79094693 A T AATK Nonsynonymous SNV C912S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.001 189744 chr9 90219881 90219881 G A rs774146874 DAPK1 Synonymous SNV A25A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.936 189745 chr17 79667570 79667570 C T rs140355730 HGS Synonymous SNV A652A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 11.29 189746 chr16 1838940 1838940 C T rs772949305 NUBP2 Nonsynonymous SNV R199W 0.004 0 0 0 5 0 0 0 0 0 0 0 7.904 189747 chr19 56235381 56235381 C T rs150906167 NLRP9 Synonymous SNV T708T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.41 189748 chr19 44611674 44611674 A C rs775794004 ZNF224 Nonsynonymous SNV K454T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 189749 chr19 44661427 44661427 G A rs201556875 ZNF234 Nonsynonymous SNV V420I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 189750 chr19 44661784 44661784 C T rs750329142 ZNF234 Nonsynonymous SNV P539S 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 189751 chr19 44777636 44777636 - T rs752793342 ZNF233 Frameshift insertion H276Sfs*15 0.003 0 0 0 3 0 0 0 0 0 0 0 189752 chr17 37307663 37307663 G C PLXDC1 Nonsynonymous SNV L10V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 189753 chr19 56466124 56466124 G A rs11880691 NLRP8 Nonsynonymous SNV A234T 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 8.86 189754 chr4 88767181 88767181 T A MEPE Nonsynonymous SNV S387R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 189755 chr16 20360059 20360059 C T UMOD Synonymous SNV E188E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 189756 chr19 5696738 5696738 C T rs150208648 LONP1 Synonymous SNV K376K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.149 189757 chr4 96046214 96046214 T G BMPR1B Nonsynonymous SNV L176R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 189758 chr16 23634435 23634435 A G rs149522412 PALB2 Nonsynonymous SNV S951P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.041 189759 chr16 23669923 23669923 A C rs755689600 DCTN5 Synonymous SNV P71P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 189760 chr16 23703506 23703506 G T rs142266891 ERN2 Nonsynonymous SNV H697Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 189761 chr19 46663902 46663902 G C IGFL2 Nonsynonymous SNV Q35H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 189762 chr5 112478961 112478961 C T rs754361263 MCC Nonsynonymous SNV A90T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 189763 chr18 2573067 2573067 G A rs147021077 NDC80 Nonsynonymous SNV G28D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.9 189764 chr17 39920994 39920994 G A JUP Nonsynonymous SNV R377C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 35 189765 chr18 29122261 29122261 G T DSG2-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.268 189766 chr18 2920372 2920372 G A rs145412418 LPIN2 Synonymous SNV S870S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 14.63 189767 chr19 8551116 8551116 G A rs765947229 HNRNPM Nonsynonymous SNV A467T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.1 189768 chr5 139928622 139928628 GAGGAGC - rs747892959 ANKHD1-EIF4EBP3, EIF4EBP3 Stop gain E79* 0 0 0.003 0 0 0 0 1 0 0 0 0 189769 chr5 139928630 139928637 GAAGGAGC - rs771996208 ANKHD1-EIF4EBP3, EIF4EBP3 K82Gfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 189770 chr5 139928638 139928638 A T rs752441126 ANKHD1-EIF4EBP3, EIF4EBP3 Nonsynonymous SNV Q84L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 189771 chr19 50249954 50249954 C T TSKS Synonymous SNV K255K 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 13.59 189772 chr18 47463627 47463627 G A rs766628314 MYO5B Synonymous SNV T631T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.82 189773 chr9 125835949 125835949 T A RABGAP1 Nonsynonymous SNV L701H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 189774 chr7 42971722 42971722 T G rs748999370 PSMA2 Synonymous SNV T12T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 189775 chr18 54606595 54606595 T C rs146537675 WDR7 Synonymous SNV G1312G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.177 189776 chr19 50931491 50931491 C T SPIB Synonymous SNV R138R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.6 189777 chr17 48776874 48776874 A G rs146050555 ANKRD40 Nonsynonymous SNV S222P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.52 189778 chr5 14664996 14665016 CGGCGCGGGAGGCGGCGGCCA - rs199656228 OTULIN E24_R30del 0 0 0.003 0 0 0 0 1 0 0 0 0 189779 chr19 9971345 9971345 C T OLFM2 Synonymous SNV R87R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.07 189780 chr5 149312037 149312037 C T rs77906196 LOC644762 0 0 0.003 0 0 0 0 1 0 0 0 0 3.509 189781 chr5 149312077 149312079 ATT - LOC644762 0 0 0.003 0 0 0 0 1 0 0 0 0 189782 chr5 149312088 149312088 G A rs113884923 LOC644762 0 0 0.003 0 0 0 0 1 0 0 0 0 9.182 189783 chr5 149312108 149312108 T C LOC644762 0 0 0.003 0 0 0 0 1 0 0 0 0 7.213 189784 chr7 64388944 64388944 G A rs918222579 ZNF273 Nonsynonymous SNV R413Q 0.003 0 0 0 3 0 0 0 0 0 0 0 12.15 189785 chr9 135523847 135523847 G A rs202240270 DDX31 Nonsynonymous SNV R383W 0 0.003 0 0 0 1 0 0 0 0 0 0 30 189786 chr9 135538017 135538017 G T rs71503153 DDX31 Nonsynonymous SNV N152K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.016 189787 chr5 150311677 150311677 C T rs79290767 ZNF300P1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.684 189788 chr5 150321823 150321823 C A rs113636163 ZNF300P1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.39 189789 chr5 150892098 150892098 G T rs762295424 FAT2 Nonsynonymous SNV R3845S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.12 189790 chr17 6704131 6704131 C G TEKT1 Synonymous SNV L328L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.15 189791 chr19 54968085 54968085 C T rs149658956 LENG8 Synonymous SNV T572T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 189792 chr5 157159979 157159979 A T rs144320851 THG1L Nonsynonymous SNV I99F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 189793 chr16 74671866 74671866 G A rs77132945 RFWD3 Nonsynonymous SNV S83F 0.009 0.005 0.007 4 10 2 0.01 2 0 0 0 0 21.4 189794 chr9 139754513 139754513 T C rs768627466 MAMDC4 Synonymous SNV N1123N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.306 189795 chr5 16769286 16769286 G C rs111910542 MYO10 Nonsynonymous SNV S319R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 189796 chr17 71752573 71752573 C T rs9910944 LOC100134391 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.313 189797 chr17 72233485 72233485 G A rs146838126 TTYH2 Nonsynonymous SNV R135Q 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 23.5 189798 chr1 117487613 117487613 C T rs188883808 PTGFRN Nonsynonymous SNV S244F 0 0.003 0 0 0 1 0 0 0 0 0 0 23 189799 chr9 140109297 140109297 C A rs755842966 NDOR1 Nonsynonymous SNV L264I 0 0.003 0 0 0 1 0 0 0 0 0 0 22 189800 chr17 7231203 7231203 C T rs148487585 NEURL4 Nonsynonymous SNV V95I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.59 189801 chr10 5415753 5415753 C A rs141642903 UCN3 Nonsynonymous SNV H24N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.575 189802 chr17 73624386 73624386 G C rs368295731 RECQL5 Nonsynonymous SNV S906C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.38 189803 chr1 14099660 14099660 C G PRDM2 Nonsynonymous SNV A200G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 189804 chr19 1486986 1486986 C T rs770160980 PCSK4 Nonsynonymous SNV G312S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.5 189805 chr1 145567093 145567093 C T rs372450738 ANKRD35 Nonsynonymous SNV R891W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 189806 chr10 17146599 17146599 A G rs201404467 CUBN Synonymous SNV T412T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.115 189807 chr1 152275701 152275701 A C rs200557501 FLG Nonsynonymous SNV H3887Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.373 189808 chr10 18963032 18963032 C T rs765434195 ARL5B Synonymous SNV H153H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 189809 chr1 152573295 152573295 C G rs775441663 LCE3C Nonsynonymous SNV L30V 0 0.005 0 0 0 2 0 0 0 1 0 0 0.542 189810 chr1 152573350 152573350 C G rs781309648 LCE3C Nonsynonymous SNV S48C 0 0.005 0 0 0 2 0 0 0 1 0 0 11.58 189811 chr1 152573416 152573416 C G rs769447318 LCE3C Nonsynonymous SNV S70C 0 0.005 0 0 0 2 0 0 0 1 0 0 5.104 189812 chr19 58187515 58187515 T C rs749547809 ZSCAN4 Star tloss M1? 0.005 0 0 0 6 0 0 0 0 0 0 0 23.5 189813 chr16 89016762 89016762 G C LOC100129697 Nonsynonymous SNV R79P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.92 189814 chr16 89016763 89016763 C G rs201635827 LOC100129697 Synonymous SNV R79R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.658 189815 chr16 89016829 89016829 G C rs372588664 LOC100129697 Synonymous SNV P101P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 2.142 189816 chr17 7707649 7707649 A T rs145112647 DNAH2 Nonsynonymous SNV E3016D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.51 189817 chr10 28348594 28348594 T C rs777827298 MPP7 Nonsynonymous SNV D428G 0 0.003 0 0 0 1 0 0 0 0 0 0 25 189818 chr17 78039310 78039310 C A rs200154414 CCDC40 Nonsynonymous SNV S489R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.142 189819 chr1 155630519 155630519 T G rs755439774 YY1AP1 Synonymous SNV P383P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.184 189820 chr19 6707129 6707129 G A rs117793540 C3 Nonsynonymous SNV R735W 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 189821 chr19 17716938 17716938 C A UNC13A Nonsynonymous SNV E1679D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.5 189822 chr19 6707888 6707888 T C rs140655115 C3 Nonsynonymous SNV K633R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.043 189823 chr16 89831437 89831437 C T rs372254398 FANCA Nonsynonymous SNV R880Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 189824 chr17 78165140 78165140 A - CARD14 S133Vfs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 189825 chr1 1565858 1565858 C A MIB2 Nonsynonymous SNV A989D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 189826 chr19 7689248 7689248 G A rs201776166 XAB2 Synonymous SNV F302F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 189827 chr17 79096476 79096476 G A AATK Synonymous SNV G317G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 189828 chr19 5696115 5696115 T C rs751275318 LONP1 Nonsynonymous SNV M459V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.003 189829 chr19 855987 855987 C T rs201664319 ELANE Synonymous SNV N209N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 10.78 189830 chr13 52371994 52371994 T - rs776447876 DHRS12 R81Gfs*42 0 0 0 1 0 0 0.003 0 0 0 0 0 189831 chr5 76989041 76989041 T C rs374718590 TBCA Nonsynonymous SNV Y99C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 189832 chr19 2115596 2115596 G A rs140741000 AP3D1 Nonsynonymous SNV P697L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 13.56 189833 chr19 2129160 2129160 G A rs200473046 AP3D1 Synonymous SNV F245F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.743 189834 chr19 877028 877028 G A rs148553311 MED16 Synonymous SNV S502S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.55 189835 chr17 17070974 17070974 C G rs749312303 MPRIP Nonsynonymous SNV H2055Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.57 189836 chr10 50820303 50820303 G T SLC18A3 Nonsynonymous SNV G506V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.4 189837 chr19 57839130 57839130 G A ZNF543 Synonymous SNV E100E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.66 189838 chr19 2233873 2233873 T G rs751390106 PLEKHJ1 Nonsynonymous SNV E139A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.5 189839 chr5 79950724 79950724 - CAGCGC MSH3 A61_A62insPA 0 0 0.003 0 0 0 0 1 0 0 0 0 189840 chr1 15987234 15987234 A G rs115451047 RSC1A1 Nonsynonymous SNV T291A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.049 189841 chr17 18907241 18907241 C A FAM83G Synonymous SNV L38L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.22 189842 chr19 5866638 5866638 G A rs145948674 FUT5 Nonsynonymous SNV R367C 0.004 0 0 0 5 0 0 0 0 0 0 0 23.9 189843 chr17 9395161 9395161 A C STX8 Nonsynonymous SNV L176V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.77 189844 chr19 9091449 9091449 C A rs149255523 MUC16 Nonsynonymous SNV M122I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.157 189845 chr1 16736124 16736124 C T rs767311556 SPATA21 Nonsynonymous SNV E164K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.3 189846 chr11 73362849 73362849 G A rs113230147 PLEKHB1 Synonymous SNV E69E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 189847 chr19 7535154 7535154 C T rs543279452 ARHGEF18 Synonymous SNV D1110D 0.004 0 0 0 5 0 0 0 0 0 0 0 10.56 189848 chr19 7684661 7684661 G A rs141686756 XAB2 Synonymous SNV D826D 0.003 0 0 0 4 0 0 0 0 0 0 0 12.18 189849 chr1 100736222 100736222 G A rs750195192 RTCA Nonsynonymous SNV D134N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 189850 chr10 79593797 79593797 C A rs147837526 DLG5 Synonymous SNV R541R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 189851 chr1 109740654 109740654 C T KIAA1324 Nonsynonymous SNV H448Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 189852 chr17 3385087 3385087 A G rs199565861 ASPA Nonsynonymous SNV I143V 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.29 189853 chr19 9005694 9005694 T C rs199525178 MUC16 Nonsynonymous SNV I13238V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.557 189854 chr6 143093506 143093506 C G HIVEP2 Synonymous SNV G790G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.406 189855 chr1 182025613 182025613 C G rs780933634 ZNF648 Nonsynonymous SNV R511S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 189856 chr1 182869122 182869122 C T rs151261538 SHCBP1L Nonsynonymous SNV S653N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.02 189857 chr10 102247813 102247813 A G rs140504657 SEC31B Nonsynonymous SNV Y1111H 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.327 189858 chr17 39183104 39183104 T C rs201738768 KRTAP1-5 Nonsynonymous SNV S102G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 189859 chr19 9453083 9453083 A G rs201145580 ZNF559 Nonsynonymous SNV H383R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.2 189860 chr1 186277099 186277099 G A rs143599637 PRG4 Nonsynonymous SNV A616T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 4.664 189861 chr17 39316825 39316825 C A rs200457764 KRTAP4-4 Nonsynonymous SNV C40F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25 189862 chr1 19166666 19166666 G A rs115672344 TAS1R2 Synonymous SNV A649A 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 7.57 189863 chr1 19176005 19176005 C T rs114026861 TAS1R2 Nonsynonymous SNV D433N 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 15.05 189864 chr1 1275119 1275119 G T rs759500388 DVL1 Nonsynonymous SNV T328K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 189865 chr6 159646627 159646627 C T FNDC1 Synonymous SNV I315I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 189866 chr17 39658815 39658815 G A rs141432690 KRT13 Nonsynonymous SNV T352M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.4 189867 chr1 109635660 109635660 A G rs898330893 TMEM167B Synonymous SNV G53G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.05 189868 chr1 109814030 109814030 G A rs372871589 CELSR2 Nonsynonymous SNV A2567T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.32 189869 chr14 53194246 53194246 T C PSMC6 Nonsynonymous SNV F260L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 189870 chr1 150131687 150131687 C T rs150382228 PLEKHO1 Nonsynonymous SNV P228L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.49 189871 chr1 150444052 150444052 T C RPRD2 Synonymous SNV Y850Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 189872 chr6 161518159 161518159 A G MAP3K4 Nonsynonymous SNV S1155G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 189873 chr6 165806236 165806236 A C PDE10A Nonsynonymous SNV Y519D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 189874 chr6 166401031 166401031 T C LINC00473 0 0 0.003 0 0 0 0 1 0 0 0 0 2.923 189875 chr11 121420695 121420695 A T SORL1 Nonsynonymous SNV D693V 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 189876 chr1 204170926 204170926 G A rs150924607 GOLT1A Nonsynonymous SNV T44M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 189877 chr17 44949945 44949945 A G rs118185468 WNT9B Nonsynonymous SNV Q47R 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 0.489 189878 chr1 2066752 2066752 A G PRKCZ Nonsynonymous SNV N25S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 189879 chr17 45297340 45297340 C T rs138710476 MYL4 Synonymous SNV C78C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.92 189880 chr1 20680289 20680289 G A rs41265047 VWA5B1 Nonsynonymous SNV E1061K 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 13.06 189881 chr19 10794080 10794080 C T ILF3 Synonymous SNV S575S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.31 189882 chr6 21595923 21595923 C T rs112453252 SOX4 Synonymous SNV S386S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.05 189883 chr1 11844347 11844347 G A rs761097148 C1orf167 Nonsynonymous SNV R1041Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.298 189884 chr17 46052996 46052996 G A rs370149330 CDK5RAP3 Synonymous SNV A123A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.61 189885 chr1 153933225 153933225 C T SLC39A1 Nonsynonymous SNV V65I 0.003 0 0 0 3 0 0 0 0 0 0 0 5.39 189886 chr19 12769268 12769268 C A MAN2B1 Nonsynonymous SNV W361C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.1 189887 chr10 134158098 134158098 G A rs145904167 LRRC27 Nonsynonymous SNV R39H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.091 189888 chr8 65494020 65494020 - GCAGCAGCA BHLHE22 S234_K235insSSS 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 189889 chr12 977045 977045 C T rs774021513 WNK1 Nonsynonymous SNV A718V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 13.68 189890 chr6 33643510 33643510 C T rs146722475 ITPR3 Synonymous SNV R1053R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.49 189891 chr1 157567734 157567734 T C rs757880103 FCRL4 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 189892 chr11 198546 198546 C G rs144673365 ODF3 Synonymous SNV G165G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.744 189893 chr1 157771755 157771755 T C rs746860941 FCRL1 Nonsynonymous SNV N279S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.682 189894 chr8 87443652 87443652 A G WWP1 Nonsynonymous SNV T469A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 189895 chr17 57232494 57232494 T A rs746482031 SKA2 Nonsynonymous SNV M11L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 189896 chr17 57232495 57232495 C T rs768122388 SKA2 Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 189897 chr1 158631122 158631122 G A rs781647129 SPTA1 Nonsynonymous SNV R848C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 189898 chr17 60112877 60112877 A G rs199717491 MED13 Nonsynonymous SNV L188P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 189899 chr1 159161737 159161737 T C rs772051000 CADM3 Nonsynonymous SNV W34R 0.003 0 0 0 4 0 0 0 0 0 0 0 25 189900 chr1 1597356 1597356 G A rs78875124 SLC35E2B Synonymous SNV T361T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.771 189901 chr1 160811001 160811001 C A rs184282870 CD244 Nonsynonymous SNV Q223H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.114 189902 chr11 1015923 1015923 G A rs200245332 MUC6 Nonsynonymous SNV T2293M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.61 189903 chr12 8807070 8807070 - GCCAAAACT MFAP5 A51_D52insVLA 0.001 0 0 0 1 0 0 0 0 0 0 0 189904 chr6 43006153 43006153 C T rs189054608 CUL7 Nonsynonymous SNV R1626Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 23.8 189905 chr6 43193521 43193521 C T rs201391372 DNPH1 Nonsynonymous SNV E159K 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 189906 chr1 16475173 16475173 G A rs147352564 EPHA2 Nonsynonymous SNV R121C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 189907 chr15 100252637 100252637 T C rs369483642 MEF2A Synonymous SNV N317N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 189908 chr1 167823710 167823710 C T rs757285965 ADCY10 Nonsynonymous SNV S577N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 189909 chr1 169510890 169510890 G C rs6005 F5 Nonsynonymous SNV H1146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.962 189910 chr1 228554680 228554681 GT - rs777361442 OBSCN F6479Wfs*53 0 0.003 0 0 0 1 0 0 0 0 0 0 189911 chr17 6978691 6978691 G A rs770259937 CLEC10A Nonsynonymous SNV A230V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 14.9 189912 chr1 157556243 157556243 T C rs762361401 FCRL4 Nonsynonymous SNV I284V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.529 189913 chr12 11214056 11214056 T C rs760189646 TAS2R46 Nonsynonymous SNV I280V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 189914 chr1 230979242 230979242 C T rs150753725 C1orf198 Nonsynonymous SNV R132H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.077 189915 chr1 231004181 231004181 C T rs115775073 C1orf198 Synonymous SNV E26E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.33 189916 chr1 170993803 170993803 C T rs73040206 MROH9 Nonsynonymous SNV T692I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 189917 chr1 171236840 171236840 C G rs56841822 FMO1 Nonsynonymous SNV H101Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.016 189918 chr19 52919926 52919926 C T rs151288951 ZNF528 Synonymous SNV C607C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 3.587 189919 chr6 6174830 6174830 G A rs143711562 F13A1 Nonsynonymous SNV T577M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.502 189920 chr8 144652519 144652519 T A rs367667331 MROH6 Nonsynonymous SNV T313S 0.005 0 0 0 6 0 0 0 0 0 0 0 0.122 189921 chr6 70964201 70964201 T A COL9A1 Nonsynonymous SNV D323V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 189922 chr11 2186541 2186541 C T rs184106392 TH Nonsynonymous SNV V419M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.37 189923 chr11 2323015 2323015 C T rs770509219 C11orf21 Nonsynonymous SNV C26Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 189924 chr1 177249800 177249800 C T BRINP2 Synonymous SNV A496A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 189925 chr19 3201619 3201619 C T rs758583459 NCLN Synonymous SNV H265H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.928 189926 chr1 178820327 178820327 G A rs2297687 ANGPTL1 Synonymous SNV A471A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.875 189927 chr12 29648364 29648364 G A rs72640150 OVCH1 Nonsynonymous SNV T103I 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 13.75 189928 chr17 73824095 73824095 C T rs377594755 UNC13D Nonsynonymous SNV R1075Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 26.3 189929 chr1 245850027 245850027 G A rs371194278 KIF26B Nonsynonymous SNV V1248I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 189930 chr1 246810846 246810846 C G CNST Nonsynonymous SNV S448C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.28 189931 chr6 88224688 88224688 G A rs142348911 RARS2 Nonsynonymous SNV P371L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 189932 chr17 7605074 7605074 C T WRAP53 Nonsynonymous SNV P308S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 189933 chr6 91257033 91257033 C T MAP3K7 Nonsynonymous SNV G385D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 189934 chr8 145694145 145694145 C T rs532477875 KIFC2 Synonymous SNV C347C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.96 189935 chr12 49689829 49689829 G C LOC101927267 0.001 0 0 0 1 0 0 0 0 0 0 0 5.689 189936 chr1 173516914 173516914 C T rs772267214 SLC9C2 Nonsynonymous SNV V491I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.762 189937 chr17 77093400 77093400 G C rs868812416 RBFOX3 Synonymous SNV P243P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.889 189938 chr12 52401094 52401094 A G rs755542895 GRASP-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.606 189939 chr11 5701178 5701178 A G rs199796686 TRIM5 Nonsynonymous SNV V77A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.79 189940 chr1 26672971 26672971 G C CRYBG2 Nonsynonymous SNV R60G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.497 189941 chr1 202127350 202127350 G A rs768517121 PTPN7 Nonsynonymous SNV R68W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 189942 chr17 79514685 79514685 C T rs772264059 FAAP100 Nonsynonymous SNV A475T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.1 189943 chr1 182908434 182908434 A G rs143457159 SHCBP1L Nonsynonymous SNV I318T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.516 189944 chr1 203053686 203053686 C T rs74570638 MYOPARR 0.002 0 0 0 2 0 0 0 0 0 0 0 6.845 189945 chr17 8013773 8013773 T G rs142781546 ALOXE3 Nonsynonymous SNV Q343P 0.005 0 0 3 6 0 0.008 0 0 0 0 0 26.5 189946 chr1 36291286 36291286 C A rs368683042 AGO4 Synonymous SNV T165T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.86 189947 chr19 6040158 6040158 C T rs779216796 RFX2 Nonsynonymous SNV V119M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 189948 chr19 6755127 6755127 G A rs199547986 SH2D3A Synonymous SNV C232C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.435 189949 chr1 213031872 213031872 G T FLVCR1 Synonymous SNV P26P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.35 189950 chr15 75248466 75248466 G T rs377664769 RPP25 Synonymous SNV P153P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.108 189951 chr11 17519780 17519780 C T rs142652588 USH1C Nonsynonymous SNV G488S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 189952 chr1 46812725 46812725 G T NSUN4 Synonymous SNV A141A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.24 189953 chr1 223940656 223940656 C T rs760073870 CAPN2 Nonsynonymous SNV P300L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 189954 chr1 224301837 224301837 G A rs368184316 FBXO28 Synonymous SNV A2A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.19 189955 chr1 224345067 224345067 T C rs189250147 FBXO28 Nonsynonymous SNV L177P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.197 189956 chr1 224377737 224377737 C T rs746101916 DEGS1 Nonsynonymous SNV P181S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 189957 chr9 111755059 111755059 G T rs745884411 CTNNAL1 Nonsynonymous SNV N124K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.078 189958 chr11 20409662 20409662 C A rs150858047 PRMT3 Synonymous SNV P42P 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 14.39 189959 chr1 53323304 53323304 C T ZYG11A Synonymous SNV C297C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.831 189960 chr18 34409116 34409116 G A rs777638337 KIAA1328 Synonymous SNV A5A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.12 189961 chr12 96104367 96104367 G A rs369730342 NTN4 Synonymous SNV D344D 0.002 0.008 0 0 2 3 0 0 0 0 0 0 8.445 189962 chr11 33308004 33308004 C G rs762680653 HIPK3 Nonsynonymous SNV T15S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 189963 chr12 97085056 97085056 C T rs375947114 CFAP54 Nonsynonymous SNV R2078C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.9 189964 chr18 52602063 52602063 C T rs907419489 CCDC68 Synonymous SNV Q196Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.4 189965 chr12 102025479 102025479 C T rs140667525 MYBPC1 Synonymous SNV T89T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.445 189966 chr7 148985922 148985922 C T rs946077634 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 4.375 189967 chr12 104373809 104373809 A G TDG Nonsynonymous SNV T123A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 20.3 189968 chr18 58039203 58039203 G A rs13447331 MC4R Nonsynonymous SNV S127L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 189969 chr7 150915916 150915916 C T rs778593929 ABCF2, LOC114483834 Nonsynonymous SNV R354Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 189970 chr15 98984369 98984369 G A rs201796033 FAM169B Synonymous SNV D130D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.903 189971 chr1 235383733 235383733 C T ARID4B Nonsynonymous SNV E431K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 189972 chr18 63477205 63477205 C T rs148563266 CDH7 Nonsynonymous SNV T159M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 189973 chr9 126135558 126135558 C T rs372726074 CRB2 Synonymous SNV A916A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 12.69 189974 chr12 121125211 121125211 G A rs765689660 MLEC Nonsynonymous SNV G38S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.901 189975 chr9 131191230 131191230 C T rs778706859 CERCAM Nonsynonymous SNV R251C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 189976 chr1 24483788 24483788 G T rs753069929 IFNLR1 Synonymous SNV P465P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 4.17 189977 chr11 55761412 55761412 C T rs144082157 OR5F1 Synonymous SNV S230S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.43 189978 chr7 27224251 27224251 C G rs759149884 HOXA11 Synonymous SNV A171A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 189979 chr7 2883676 2883676 G A rs11552938 GNA12 Synonymous SNV S40S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.974 189980 chr11 56058391 56058391 G A rs114085258 OR8H1 Nonsynonymous SNV R50C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.652 189981 chr16 216367 216367 G T rs200995285 HBM Nonsynonymous SNV A65S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23.2 189982 chr1 87797933 87797933 A C rs71664161 LMO4 Synonymous SNV R79R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.47 189983 chr1 228680759 228680759 C T RNF187 Synonymous SNV H163H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.15 189984 chr1 233515448 233515448 C T rs111921576 MAP3K21 Nonsynonymous SNV P899L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.01 189985 chr12 133263886 133263886 C G rs202220778 POLE Nonsynonymous SNV G6R 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.71 189986 chr1 91809014 91809014 C T rs143399622 HFM1 Nonsynonymous SNV D770N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 27 189987 chr7 42950072 42950072 A G C7orf25 Nonsynonymous SNV I201T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 189988 chr1 1471017 1471017 C T rs187039783 TMEM240 Nonsynonymous SNV G109S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 32 189989 chr11 56230799 56230799 - A rs775245123 OR5M9 Frameshift insertion V27Cfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 189990 chr7 44151148 44151148 A T AEBP1 Nonsynonymous SNV T587S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 189991 chr16 30381418 30381418 C A TBC1D10B Synonymous SNV R29R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.44 189992 chr1 241667493 241667493 G A rs146751488 FH Synonymous SNV D319D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 9.754 189993 chr7 47976473 47976496 GCCTGTGTTTTTTCATTAACAACA - rs776272692 PKD1L1 V116_A123del 0 0 0.003 0 0 0 0 1 0 0 0 0 189994 chr1 26671575 26671575 A G rs11579834 CRYBG2 Nonsynonymous SNV F525S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.563 189995 chr1 26671578 26671578 A G rs11579835 CRYBG2 Nonsynonymous SNV L524S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 189996 chr11 57564214 57564214 C T rs201307327 CTNND1 Nonsynonymous SNV R135C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 189997 chr13 31850839 31850839 A G B3GLCT Nonsynonymous SNV R261G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.5 189998 chr19 15756533 15756533 A G rs775804633 CYP4F3 Nonsynonymous SNV H68R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 189999 chr11 60070147 60070147 A G rs374427243 MS4A4A Nonsynonymous SNV Y168C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.37 190000 chr13 43155381 43155381 T C TNFSF11 Synonymous SNV P113P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.449 190001 chr7 642485 642485 C T rs971119782 LOC101926963 0 0 0.003 0 0 0 0 1 0 0 0 0 5.307 190002 chr7 6502629 6502629 C T rs201114583 KDELR2 Nonsynonymous SNV A177T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 190003 chr11 60889240 60889240 T C rs372665600 CD5 Synonymous SNV C264C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.596 190004 chr10 5139644 5139644 C T rs118150330 AKR1C3 Stop gain R91X 0.004 0.005 0 0 5 2 0 0 0 0 0 0 37 190005 chr11 62292578 62292578 T C rs563944552 AHNAK Nonsynonymous SNV K3104R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.99 190006 chr11 62292932 62292932 G A AHNAK Nonsynonymous SNV P2986L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 190007 chr7 80292400 80292400 T A rs146120263 CD36 Stop gain L20X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 190008 chr11 63327580 63327580 T C PLAAT2 Nonsynonymous SNV Y32C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 190009 chr19 18047304 18047304 C T rs540765653 CCDC124 Synonymous SNV A25A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 190010 chr1 27877117 27877117 C T rs143346525 AHDC1 Nonsynonymous SNV V504M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 24.3 190011 chr11 64566926 64566926 T C rs145742707 MAP4K2 Synonymous SNV P340P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.641 190012 chr7 91690582 91690582 T C rs150332727 AKAP9 Synonymous SNV H1870H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.253 190013 chr10 15255012 15255012 C G rs372469140 FAM171A1 Nonsynonymous SNV E859Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24 190014 chr19 19038809 19038809 G C DDX49 Nonsynonymous SNV E409D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 190015 chr1 29618444 29618444 C T rs41302038 PTPRU Synonymous SNV S794S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.18 190016 chr19 5783110 5783110 C T PRR22 Nonsynonymous SNV G383D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.702 190017 chr7 94184938 94184938 G C CASD1 Nonsynonymous SNV Q480H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 190018 chr1 43700074 43700074 G A rs769033375 CFAP57 Nonsynonymous SNV R1117Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 190019 chr1 44604753 44604753 C A rs528007989 KLF18 Nonsynonymous SNV G851W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.189 190020 chr19 58216239 58216239 C T rs182712034 ZNF154 Nonsynonymous SNV A48T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 190021 chr19 58868039 58868039 C T ZNF497 Synonymous SNV Q321Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.303 190022 chr1 46826438 46826438 C T rs143087300 NSUN4 Synonymous SNV I223I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 190023 chr11 67079246 67079246 - GCAGGG rs751461879 SSH3 G631_E632insQG 0 0.003 0 0 0 1 0 0 0 0 0 0 190024 chr11 67399195 67399195 G C TBX10 Nonsynonymous SNV P347A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 190025 chr1 47717297 47717297 T C rs142315727 STIL Synonymous SNV R1126R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign/Likely benign 1.626 190026 chr8 110456099 110456099 C T PKHD1L1 Nonsynonymous SNV H1587Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 190027 chr11 68835070 68835070 G A rs144488197 TPCN2 Nonsynonymous SNV D276N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 190028 chr11 69063351 69063351 G A rs151202721 MYEOV Nonsynonymous SNV C87Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 190029 chr1 44056704 44056704 C T rs759332750 PTPRF Synonymous SNV L337L 0.001 0 0 0 1 0 0 0 0 0 0 0 11 190030 chr14 21464324 21464324 T C LOC101929718 0.001 0 0 0 1 0 0 0 0 0 0 0 0.699 190031 chr1 55562687 55562687 A C rs368095794 USP24 Synonymous SNV G1958G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.073 190032 chr11 75112714 75112714 G C RPS3 Synonymous SNV R64R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 190033 chr19 35786878 35786878 A G rs113328438 MAG Nonsynonymous SNV I112V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.337 190034 chr20 45354041 45354041 C T rs34990188 SLC2A10 Synonymous SNV Y122Y 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 Benign/Likely benign 6.938 190035 chr11 82561037 82561037 T C rs199603473 PRCP Nonsynonymous SNV T119A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.462 190036 chr20 49520518 49520518 C T ADNP Nonsynonymous SNV V6I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.7 190037 chr19 3738967 3738967 G T rs774936550 TJP3 Nonsynonymous SNV S489I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 190038 chr19 38229646 38229646 T C rs777790984 ZNF573 Nonsynonymous SNV Y494C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 190039 chr1 6634973 6634973 C T rs149223608 TAS1R1 Nonsynonymous SNV R261C 0.002 0 0 0 2 0 0 0 0 0 0 0 19.88 190040 chr19 9083165 9083165 C T rs764839302 MUC16 Nonsynonymous SNV G2884R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.07 190041 chr11 100999190 100999190 G A rs10160726 PGR Synonymous SNV H204H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 0.081 190042 chr11 100999241 100999241 C T rs36055552 PGR Synonymous SNV R187R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 14.74 190043 chr11 100999655 100999655 C T rs113055487 PGR Synonymous SNV S49S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 11.7 190044 chr11 102562724 102562724 G T rs141611002 MMP27 Nonsynonymous SNV R439S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 190045 chr19 4054199 4054199 G A rs112339723 ZBTB7A Synonymous SNV D344D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.578 190046 chr10 73560498 73560498 G A rs41281336 CDH23 Nonsynonymous SNV E250K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.4 190047 chr1 85666579 85666579 G A rs749770743 SYDE2 Nonsynonymous SNV S34F 0.003 0 0 0 4 0 0 0 1 0 0 0 1.992 190048 chr11 110104062 110104062 G A rs74983220 RDX Nonsynonymous SNV A149V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 190049 chr1 7724701 7724701 G A rs144185676 CAMTA1 Synonymous SNV A668A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.991 190050 chr11 113848641 113848641 C T rs200174404 HTR3A Synonymous SNV N72N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.922 190051 chr20 62372829 62372829 C T SLC2A4RG Nonsynonymous SNV P130S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.128 190052 chr11 117052656 117052656 C T rs145349618 SIDT2 Nonsynonymous SNV R147W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 190053 chr11 117866312 117866312 G A rs41354146 IL10RA Nonsynonymous SNV V233M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 19.48 190054 chr11 118106242 118106242 C T rs34507994 MPZL3 Nonsynonymous SNV V160M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.3 190055 chr21 17250145 17250145 G A rs758225327 USP25 Nonsynonymous SNV E723K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 190056 chr11 119027691 119027691 C T rs12271907 ABCG4 Synonymous SNV N345N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 9.033 190057 chr11 119169085 119169085 G A rs146517083 CBL Nonsynonymous SNV A757T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 21.6 190058 chr19 4512232 4512232 C T rs112336185 PLIN4 Synonymous SNV K580K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 6.691 190059 chr21 32617953 32617953 T C rs748482946 TIAM1 Nonsynonymous SNV S479G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.14 190060 chr20 16337022 16337022 C T rs746166094 KIF16B Nonsynonymous SNV V1141I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 190061 chr21 34960866 34960866 T G rs768071555 DONSON Nonsynonymous SNV S28R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.32 190062 chr1 99764626 99764626 A G PLPPR4 Nonsynonymous SNV I192V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.39 190063 chr20 1286661 1286661 C T rs749157610 SNPH Nonsynonymous SNV P483L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.804 190064 chr19 48229171 48229171 A G EHD2 Nonsynonymous SNV E202G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 190065 chr11 124530543 124530543 A G rs777511027 SIAE Nonsynonymous SNV M129T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 190066 chr21 40880925 40880927 GAA - rs764368542 SH3BGR, WRB-SH3BGR E170del 0 0.003 0 0 0 1 0 0 0 0 0 0 190067 chr14 81227798 81227798 A G rs762831918 CEP128 Nonsynonymous SNV S846P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24 190068 chr8 442559 442559 C G TDRP Nonsynonymous SNV W133S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 190069 chr20 16360178 16360178 C T KIF16B Synonymous SNV L823L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.951 190070 chr1 151263446 151263448 AAG - rs781012462 ZNF687 K1160del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 190071 chr11 129745257 129745257 T A NFRKB Nonsynonymous SNV T642S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 190072 chr20 30347935 30347935 T G rs760377744 TPX2 Nonsynonymous SNV L61W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 190073 chr1 152127330 152127330 C T RPTN Nonsynonymous SNV E749K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.592 190074 chr8 6263939 6263939 C T rs2243755 LOC100287015 0 0 0.034 0 0 0 0 10 0 0 5 0 8.876 190075 chr12 235037 235037 G A IQSEC3 Nonsynonymous SNV A288T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.59 190076 chr8 67335686 67335686 T - rs368522860 RRS1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 190077 chr1 153651628 153651628 T C rs765066553 NPR1 Nonsynonymous SNV L15P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.74 190078 chr1 228362923 228362923 C T rs202126055 IBA57 Synonymous SNV Y260Y 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Likely benign 8.915 190079 chr14 100182238 100182238 G A rs151175005 CYP46A1 Nonsynonymous SNV R262Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 190080 chr1 228481854 228481854 C T rs199641194 OBSCN Synonymous SNV A3711A 0.001 0.003 0.007 3 1 1 0.008 2 0 0 0 0 Likely benign 7.633 190081 chr20 30738676 30738676 T G TM9SF4 Nonsynonymous SNV C398G 0.003 0 0 0 3 0 0 0 0 0 0 0 21.5 190082 chr20 31023472 31023472 A G rs145132837 ASXL1 Nonsynonymous SNV N925S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 1.965 190083 chr20 39984664 39984664 C T rs745500799 LPIN3 Nonsynonymous SNV S599F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 31 190084 chr20 3199264 3199264 A G rs140777194 ITPA Nonsynonymous SNV R92G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 22.5 190085 chr12 6747495 6747495 G A rs142857326 ACRBP Stop gain R529X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 190086 chr10 129903518 129903518 C A rs150716470 MKI67 Nonsynonymous SNV G1836C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 190087 chr1 156268713 156268713 G A VHLL Nonsynonymous SNV R90C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.83 190088 chr12 7177891 7177891 T C rs782166182 C1S Nonsynonymous SNV V501A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 190089 chr14 104561889 104561889 G A ASPG Nonsynonymous SNV G109S 0.005 0 0.003 0 6 0 0 1 0 0 0 0 29.3 190090 chr20 33588792 33588792 C T rs147239130 MYH7B Nonsynonymous SNV A1811V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Likely benign 22.3 190091 chr12 7290617 7290617 T A rs139911367 CLSTN3 Nonsynonymous SNV L426Q 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 22 190092 chr1 156646427 156646427 C T NES Synonymous SNV R210R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.81 190093 chr20 44596133 44596133 C T ZNF335 Nonsynonymous SNV E319K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 190094 chr12 9260170 9260170 C T rs140258425 A2M Nonsynonymous SNV D127N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.002 190095 chr20 37630480 37630480 A T rs144637711 DHX35 Synonymous SNV L219L 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 6.277 190096 chr17 39324347 39324347 G T rs775293129 KRTAP4-3 Synonymous SNV R26R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.491 190097 chr15 23892416 23892416 T C rs750481560 MAGEL2 Synonymous SNV P158P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.679 190098 chr20 49508257 49508257 G A rs753268138 ADNP Synonymous SNV D998D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.007 190099 chr20 49510646 49510646 T C ADNP Nonsynonymous SNV E202G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 190100 chr11 498492 498492 G C RNH1 Synonymous SNV T307T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.044 190101 chr22 24567897 24567897 A G rs201653640 CABIN1 Nonsynonymous SNV K1942E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 17.61 190102 chr22 26193997 26193997 C T rs368897377 MYO18B Synonymous SNV S818S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.44 190103 chr12 12940029 12940029 G C rs750553294 APOLD1 Nonsynonymous SNV A95P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 190104 chr9 117170284 117170284 C T WHRN Synonymous SNV L196L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.71 190105 chr22 26908521 26908521 G T rs575397800 LOC100507599 0 0.003 0 0 0 1 0 0 0 0 0 0 7.39 190106 chr20 5903069 5903069 G A rs138069166 CHGB Synonymous SNV S93S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.398 190107 chr22 27585016 27585016 C G rs184851456 LOC105372977 Nonsynonymous SNV T75S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.022 190108 chr9 117836096 117836096 G T TNC Nonsynonymous SNV S1000R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 190109 chr12 14796626 14796626 C T rs56346421 GUCY2C Synonymous SNV L604L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.77 190110 chr19 55489155 55489155 G A rs201293188 NLRP2 Nonsynonymous SNV D121N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.069 190111 chr12 25705861 25705861 C T rs553538800 LMNTD1 Synonymous SNV S11S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.87 190112 chr19 55738610 55738610 T C rs201001102 TMEM86B Nonsynonymous SNV Y206C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 190113 chr20 6021877 6021877 C T rs77984191 LRRN4 Nonsynonymous SNV A672T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.019 190114 chr19 55857951 55857951 C A rs199990311 KMT5C Nonsynonymous SNV T264N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 190115 chr20 6031559 6031559 C T rs149005401 LRRN4 Synonymous SNV T242T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.14 190116 chr19 55895242 55895242 G C rs919160504 TMEM238 Nonsynonymous SNV A129G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.71 190117 chr12 28459793 28459793 T C rs781569437 CCDC91 Nonsynonymous SNV V129A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.516 190118 chr19 56422010 56422010 C G NLRP13 Nonsynonymous SNV S734T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 190119 chr9 133556993 133557001 CGCCGCCGC - rs752427775 PRDM12 A357_A359del 0 0 0.01 1 0 0 0.003 3 0 0 1 0 190120 chr1 176526200 176526200 T C PAPPA2 Nonsynonymous SNV Y248H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.03 190121 chr1 176659582 176659582 T C PAPPA2 Nonsynonymous SNV L816S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.874 190122 chr1 176668383 176668383 C G PAPPA2 Nonsynonymous SNV T965S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.088 190123 chr19 57175364 57175364 G C rs375191518 ZNF835 Nonsynonymous SNV H401Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 190124 chr21 30419515 30419515 T C rs184885878 USP16 Synonymous SNV T627T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.343 190125 chr21 31864068 31864068 A G rs199867409 KRTAP19-3 Nonsynonymous SNV S70P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.172 190126 chr1 17928639 17928639 G C ARHGEF10L Nonsynonymous SNV S92T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.52 190127 chr1 34330300 34330300 T C rs57068937 HMGB4 Nonsynonymous SNV Y96H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.007 190128 chr9 136650917 136650917 C G rs140877645 VAV2 Nonsynonymous SNV E495Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 190129 chr12 52470845 52470845 C T rs143354372 ATG101 Synonymous SNV N176N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.43 190130 chr19 58596706 58596706 C T rs764327994 ZSCAN18 Synonymous SNV E157E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 190131 chr22 50181212 50181212 T C BRD1 Nonsynonymous SNV K890E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.38 190132 chr21 42866328 42866328 C T rs150389990 TMPRSS2 Nonsynonymous SNV V102I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.057 190133 chr19 6185562 6185562 A C rs754045502 ACSBG2 Nonsynonymous SNV T480P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.75 190134 chr9 139980417 139980417 T C rs7466635 MAN1B1-DT 0 0 0.007 0 0 0 0 2 0 0 1 0 5.037 190135 chr1 43308816 43308816 G A rs747086061 ERMAP Synonymous SNV P447P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.687 190136 chr22 50693934 50693934 G A rs62239359 MAPK12 Synonymous SNV P256P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.98 190137 chr9 140145618 140145618 C G rs956294670 STPG3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.188 190138 chr1 196965193 196965193 G A rs139017763 CFHR5 Nonsynonymous SNV G278S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 24.7 190139 chr1 200017834 200017834 G C rs61755054 NR5A2 Nonsynonymous SNV R261P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 29.5 190140 chr11 5537636 5537636 G T UBQLNL Synonymous SNV S12S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.076 190141 chr12 54970371 54970371 C T rs570590084 PDE1B Nonsynonymous SNV P261S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.77 190142 chr19 758274 758274 C T rs141459831 MISP Nonsynonymous SNV A443V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.782 190143 chr19 7584398 7584398 G C rs375433411 ZNF358 Synonymous SNV S90S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 190144 chr12 56092589 56092589 G A rs113343213 ITGA7 Synonymous SNV S305S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.68 190145 chr19 8670154 8670154 G T ADAMTS10 Nonsynonymous SNV P60T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.238 190146 chr22 17983949 17983949 C T rs373535489 CECR2 Synonymous SNV T94T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 190147 chr9 35808537 35808537 T C rs919659730 NPR2 Nonsynonymous SNV V915A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 190148 chr21 46117732 46117732 G A rs374493028 KRTAP10-12 Nonsynonymous SNV A206T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.166 190149 chr19 9089874 9089874 G A rs1001712390 MUC16 Synonymous SNV V647V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.356 190150 chr9 78796352 78796352 C G PCSK5 Nonsynonymous SNV A681G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 190151 chr9 78853908 78853908 G A rs372055352 PCSK5 Nonsynonymous SNV G967E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 190152 chr12 75715254 75715255 TA - rs562235427 CAPS2 Stop gain Y45* 0 0.003 0 0 0 1 0 0 0 0 0 0 190153 chr1 2124406 2124406 T C FAAP20 Nonsynonymous SNV N160S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.567 190154 chr2 128398472 128398472 T C rs146422285 LIMS2 Nonsynonymous SNV Q99R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 190155 chr19 9868700 9868700 T G rs150613849 ZNF846 Synonymous SNV S222S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 11.96 190156 chr1 6634787 6634787 A G rs984813708 TAS1R1 Nonsynonymous SNV M199V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.5 190157 chr12 89918042 89918042 T C rs781739470 GALNT4, POC1B-GALNT4 Synonymous SNV E95E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.205 190158 chr22 31059499 31059500 CA - rs538206035 DUSP18 V164Afs*12 0.003 0.003 0 0 3 1 0 0 0 0 0 0 190159 chr12 104044317 104044317 G A rs767119177 STAB2 Synonymous SNV T406T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.835 190160 chr12 104160097 104160097 C T rs778099850 STAB2 Nonsynonymous SNV P2547S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 190161 chr22 36700136 36700136 G C MYH9 Synonymous SNV A765A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 190162 chr16 836375 836375 G A rs772715736 RPUSD1 Nonsynonymous SNV R43W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.4 190163 chr22 37964282 37964282 C G rs754520744 CDC42EP1 Nonsynonymous SNV L211V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 190164 chr16 1033869 1033869 G A rs746042072 SOX8 Synonymous SNV S188S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.893 190165 chrX 122536945 122536945 G A rs138817389 GRIA3 Nonsynonymous SNV R394Q 0.003 0 0.01 0 4 0 0 3 1 0 1 0 Benign/Likely benign 23.2 190166 chrX 129843232 129843232 C T rs201475438 ENOX2 Nonsynonymous SNV E12K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.58 190167 chr22 39411705 39411705 T C APOBEC3C Synonymous SNV G41G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 190168 chr12 112036773 112036773 - TGCTGT rs776112405 ATXN2 Q28_P29insQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 190169 chr22 30499486 30499486 G A rs79579526 HORMAD2 Nonsynonymous SNV R85K 0.005 0.003 0.003 6 6 1 0.015 1 0 0 0 0 6.524 190170 chr12 112183981 112183981 T C ACAD10 Nonsynonymous SNV F717L 0 0.003 0 0 0 1 0 0 0 0 0 0 27 190171 chr16 1664826 1664826 C G CRAMP1 Synonymous SNV P62P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.369 190172 chr12 113554955 113554955 A C RASAL1 Synonymous SNV S218S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.11 190173 chr12 116445337 116445337 C T rs200257416 MED13L Nonsynonymous SNV G706E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 190174 chr22 31531849 31531849 G A rs114460398 PLA2G3 Nonsynonymous SNV L464F 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 3.278 190175 chr22 32439318 32439318 T C rs33951240 SLC5A1 Nonsynonymous SNV V17A 0.005 0.003 0.003 3 6 1 0.008 1 0 0 0 0 Benign 0.002 190176 chr12 120198754 120198754 C T rs778899534 CIT Nonsynonymous SNV E762K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 190177 chr2 169993970 169993970 G A LRP2 Nonsynonymous SNV P4518S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 190178 chr1 22970524 22970524 T C rs367838299 C1QC Nonsynonymous SNV V3A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.116 190179 chr17 79953894 79953894 C T rs139064158 ASPSCR1 Synonymous SNV G76G 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 10.98 190180 chr16 3358545 3358545 G T rs754609306 ZNF75A Nonsynonymous SNV M39I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.84 190181 chr2 173344747 173344747 C T rs139324320 ITGA6 Nonsynonymous SNV T506I 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Uncertain significance 23.3 190182 chr16 3716031 3716031 C T rs140501072 TRAP1 Nonsynonymous SNV E389K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.53 190183 chr17 80393680 80393680 G A rs8077469 HEXD Nonsynonymous SNV R96Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.702 190184 chr16 4516250 4516250 C T rs138190658 NMRAL1 Nonsynonymous SNV V145I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 190185 chr12 122676049 122676049 G A rs756689259 LRRC43 Nonsynonymous SNV V342M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 190186 chr22 38131357 38131357 G T rs200045032 TRIOBP Stop gain G1672X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 37 190187 chr12 122864919 122864919 C T rs138117323 CLIP1 Synonymous SNV T27T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.63 190188 chr12 122958204 122958204 T C rs370019301 ZCCHC8 Nonsynonymous SNV K578R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 190189 chr17 80963044 80963044 C T rs151094014 B3GNTL1 Nonsynonymous SNV E151K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 190190 chr22 50316898 50316898 G A rs760495715 CRELD2 Synonymous SNV A235A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.124 190191 chr1 235914601 235914601 G A rs767740055 LYST Synonymous SNV T2563T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.72 190192 chr12 124267718 124267718 C T DNAH10 Synonymous SNV D302D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 190193 chr16 4953938 4953938 G A PPL Nonsynonymous SNV A89V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.3 190194 chr22 50615927 50615927 C A rs756985154 PANX2 Synonymous SNV G262G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 190195 chr12 125509686 125509686 C G rs375754718 BRI3BP Nonsynonymous SNV R156G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 190196 chrX 48978819 48978819 C T rs149562439 GPKOW Nonsynonymous SNV A129T 0 0 0.003 2 0 0 0.005 1 0 0 0 1 Likely benign 16.3 190197 chr22 50724282 50724282 T G rs759858793 PLXNB2 Nonsynonymous SNV M679L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 190198 chrX 49081230 49081230 C T rs141010716 CACNA1F Nonsynonymous SNV V624I 0.003 0 0.01 2 4 0 0.005 3 1 0 0 1 Conflicting interpretations of pathogenicity 21.6 190199 chr22 50987424 50987424 G A rs779501691 KLHDC7B Nonsynonymous SNV G918S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 190200 chr1 240370313 240370313 G A rs140911005 FMN2 Nonsynonymous SNV R734Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.23 190201 chr2 182323001 182323001 G A rs747033272 ITGA4 Synonymous SNV R92R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 190202 chrX 66766356 66766356 - GGCGGC AR G473_E474insGG 0 0 0.024 0 0 0 0 7 0 0 3 0 190203 chrX 69454580 69454580 G A AWAT1 Nonsynonymous SNV S12N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 190204 chrX 73067240 73067240 T - rs778953684 XIST 0 0 0.01 0 0 0 0 3 0 0 0 0 190205 chr2 103334968 103334968 C T MFSD9 Nonsynonymous SNV A385T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 190206 chrX 84189261 84189261 A G rs781573906 UBE2DNL 0 0 0.003 0 0 0 0 1 0 0 0 0 0.856 190207 chr2 105961783 105961783 G A rs775844190 C2orf49 Synonymous SNV K218K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 190208 chr13 24798473 24798473 C G SPATA13 Nonsynonymous SNV P469R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 190209 chr18 28993230 28993230 A G rs139102330 DSG4 Nonsynonymous SNV N951S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.165 190210 chr10 101841241 101841261 CCCGCGTGATGCCGGGGCATT - rs755504443 CPN1 E41_R47del 0 0 0.01 0 0 0 0 3 0 0 0 0 190211 chr13 32929047 32929047 G C rs80358935 BRCA2 Nonsynonymous SNV G2353R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.9 190212 chr2 11750901 11750901 G A rs369977260 GREB1 Synonymous SNV P918P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.07 190213 chr2 10136459 10136459 G T rs370191500 GRHL1 Nonsynonymous SNV R536L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 35 190214 chr2 11905786 11905786 A G rs149819112 LPIN1 Nonsynonymous SNV N40S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24 190215 chr2 202337717 202337717 G A rs771728565 STRADB Nonsynonymous SNV R78Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 190216 chr2 11960587 11960587 C T rs369392717 LPIN1 Synonymous SNV T820T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 190217 chr2 120712838 120712838 G A rs141362505 PTPN4 Nonsynonymous SNV R640Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 190218 chr1 24932138 24932138 A G rs758735853 NCMAP Nonsynonymous SNV K70R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.63 190219 chr13 48807577 48807577 C T rs11556899 ITM2B Synonymous SNV L27L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.8 190220 chr13 49076915 49076915 G A rs140643232 RCBTB2 Synonymous SNV D80D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.775 190221 chr1 27320347 27320347 C T rs765176447 TRNP1 Nonsynonymous SNV P24S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.07 190222 chr1 162345162 162345162 T A rs775931195 SPATA46 Synonymous SNV A45A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 190223 chr2 210858046 210858046 G T UNC80 Nonsynonymous SNV R3045L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 190224 chr16 58079302 58079302 G A rs147317164 MMP15 Synonymous SNV A654A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.81 190225 chr2 152484098 152484098 G A rs745706462 NEB Nonsynonymous SNV T3118M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 190226 chr13 75936529 75936529 T G rs200446215 TBC1D4 Nonsynonymous SNV K238T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 9.855 190227 chr2 21256207 21256207 A G rs751259935 APOB Nonsynonymous SNV V363A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 17.89 190228 chr2 15739832 15739832 C T rs779224512 DDX1 Nonsynonymous SNV S100F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 190229 chr2 216274441 216274441 G A rs144664306 FN1 Nonsynonymous SNV T715M 0.002 0.008 0.01 1 2 3 0.003 3 0 0 0 0 Benign 26.8 190230 chr16 67911701 67911701 G A rs757911873 EDC4 Nonsynonymous SNV V283I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.29 190231 chr1 3426508 3426508 G C MEGF6 Nonsynonymous SNV T428S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.009 190232 chr10 131640416 131640416 C T rs765175172 EBF3 Nonsynonymous SNV V437I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 190233 chr1 35654971 35654971 G A rs149351578 SFPQ Synonymous SNV T476T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 9.113 190234 chr10 134012451 134012451 G A rs758861706 DPYSL4 Nonsynonymous SNV A263T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 190235 chr2 166201163 166201163 A G rs749540280 SCN2A Synonymous SNV V887V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.935 190236 chr2 166226809 166226809 T G rs752258602 SCN2A Nonsynonymous SNV D1283E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 190237 chr1 173933223 173933223 T A RC3H1 Synonymous SNV P573P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 190238 chr10 134021615 134021615 C T rs56109103 STK32C Nonsynonymous SNV A467T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 190239 chr1 36565715 36565715 G A rs374713668 COL8A2 Synonymous SNV Y43Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.288 190240 chr16 74750359 74750359 C T rs150427439 FA2H Nonsynonymous SNV V309I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.81 190241 chr13 109318242 109318242 C A MYO16 Nonsynonymous SNV Q13K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.81 190242 chr13 109445960 109445960 A G rs763427854 MYO16 Nonsynonymous SNV N238S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.66 190243 chr10 135085398 135085398 G - ADAM8 L301Wfs*120 0 0 0.003 0 0 0 0 1 0 0 0 0 190244 chr2 220412708 220412708 G A rs758449324 TMEM198 Nonsynonymous SNV R216Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.7 190245 chr1 177905454 177905454 T G rs201035635 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV Q509H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.6 190246 chr2 168107757 168107757 C T rs755958864 XIRP2 Synonymous SNV P3063P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.003 190247 chr18 8253296 8253296 G A rs774714198 PTPRM Nonsynonymous SNV A867T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.152 190248 chr2 220497040 220497040 G A rs41272707 SLC4A3 Synonymous SNV R366R 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 11.34 190249 chr10 15263043 15263043 G A rs780670877 FAM171A1 Synonymous SNV S257S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.11 190250 chr10 15646221 15646221 C T rs375110710 ITGA8 Nonsynonymous SNV E687K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 190251 chr1 41483468 41483468 C T rs763876241 SLFNL1 Nonsynonymous SNV G266S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 190252 chr18 9887176 9887176 C A rs143154037 TXNDC2 Nonsynonymous SNV P234T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.36 190253 chr10 16975190 16975190 G A rs140202552 CUBN Nonsynonymous SNV T2007M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.16 190254 chr11 64567602 64567602 G A rs138522028 MAP4K2 Synonymous SNV S298S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.05 190255 chr10 17113599 17113599 G A rs768531445 CUBN Synonymous SNV C817C 0 0 0.007 0 0 0 0 2 0 0 0 0 8.541 190256 chr13 114498154 114498154 G A rs150323609 TMEM255B Nonsynonymous SNV V96M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 190257 chr1 42647641 42647641 G A FOXJ3 Nonsynonymous SNV P533L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 190258 chr16 84050225 84050225 C T SLC38A8 Stop gain W354X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 190259 chr2 163027464 163027464 A T LOC101929532 0.005 0 0 0 6 0 0 0 0 0 0 0 8.162 190260 chr2 173354358 173354358 A G rs61757096 ITGA6 Nonsynonymous SNV Q884R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 0.059 190261 chr1 183201956 183201956 G A LAMC2 Synonymous SNV L728L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.51 190262 chr2 178364399 178364399 G A AGPS Synonymous SNV G472G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 190263 chr11 66029645 66029645 G A rs143312355 KLC2 Nonsynonymous SNV E94K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 190264 chr11 66032648 66032648 C T rs774715084 KLC2 Nonsynonymous SNV R349W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 190265 chr2 179654131 179654131 T C rs878854290 TTN Nonsynonymous SNV T632A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.09 190266 chr10 3155362 3155362 G A rs760379001 PFKP Synonymous SNV P186P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.831 190267 chr14 23072593 23072593 C A rs375987684 ABHD4 Synonymous SNV I137I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.9 190268 chr2 183943730 183943730 G A DUSP19 Synonymous SNV V23V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 190269 chr11 68478487 68478487 A G rs146043252 TESMIN Nonsynonymous SNV C397R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 190270 chr10 43977277 43977277 G A ZNF487 Synonymous SNV K181K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.09 190271 chr19 13319636 13319636 T G CACNA1A Synonymous SNV A2239A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.389 190272 chr19 13869925 13869925 A C rs142725009 CCDC130 Nonsynonymous SNV K89Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 190273 chr10 46966646 46966646 C T rs563476211 LOC101927699, LOC102724593 0 0 0.02 0 0 0 0 6 0 0 0 0 3.968 190274 chr11 71153322 71153322 G A rs147424205 DHCR7 Synonymous SNV A133A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.38 190275 chr14 24683601 24683601 C A MDP1, NEDD8-MDP1 Nonsynonymous SNV R106S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 190276 chr2 23918997 23918997 C G rs890968497 KLHL29 Nonsynonymous SNV L640V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.2 190277 chr2 241534092 241534092 C T rs17846974 CAPN10 Synonymous SNV V321V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.452 190278 chr21 38437951 38437951 T G rs2276231 PIGP Nonsynonymous SNV R136S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 12.92 190279 chr19 15233759 15233759 C T rs200365093 ILVBL Nonsynonymous SNV R183Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.9 190280 chr10 52834521 52834521 C T PRKG1 Synonymous SNV T57T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 190281 chr2 242138770 242138770 C G ANO7 Nonsynonymous SNV L117V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.62 190282 chr2 242149925 242149925 G A rs149170904 ANO7 Nonsynonymous SNV V501I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 190283 chr2 186653541 186653541 A G FSIP2 Nonsynonymous SNV S560G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 26.8 190284 chr14 50177049 50177049 G A rs8017121 KLHDC1 Synonymous SNV G118G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.457 190285 chr14 50245161 50245161 T C rs35029396 KLHDC2 Synonymous SNV H194H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.209 190286 chr10 61413497 61413497 G C rs77799409 SLC16A9 Synonymous SNV A342A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 2.535 190287 chr21 44323582 44323582 T C NDUFV3 Nonsynonymous SNV S154P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.2 190288 chr14 51219320 51219320 T G rs77959782 NIN Nonsynonymous SNV E909D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.421 190289 chr2 206921474 206921474 C T rs757787067 INO80D Nonsynonymous SNV V138I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 190290 chr21 45390582 45390582 G A AGPAT3 Nonsynonymous SNV V187I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.75 190291 chr14 51230590 51230590 C T rs61755036 NIN Synonymous SNV P576P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.12 190292 chr2 25470588 25470588 C T rs755398725 DNMT3A Nonsynonymous SNV V144M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 190293 chr1 78041789 78041789 A C rs760979816 ZZZ3 Nonsynonymous SNV F271L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.36 190294 chr1 20975778 20975778 G A rs532160261 PINK1-AS 0.002 0 0 0 2 0 0 0 0 0 0 0 2.769 190295 chr2 196718116 196718116 G T DNAH7 Nonsynonymous SNV S2911Y 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 190296 chr17 4619919 4619919 C T ARRB2 Nonsynonymous SNV P125S 0.004 0 0 0 5 0 0 0 0 0 0 0 3.466 190297 chr21 46595744 46595744 A G rs200269366 ADARB1 Nonsynonymous SNV N92S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.02 190298 chr1 85589838 85589838 C T rs138281012 WDR63 Synonymous SNV D633D 0.002 0.008 0 1 2 3 0.003 0 1 0 0 0 Benign 10.14 190299 chr1 87716369 87716369 G T rs143649596 LINC02801 Nonsynonymous SNV R70M 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 6.611 190300 chr10 74912104 74912104 G A ECD Synonymous SNV L287L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 190301 chr10 75567948 75567948 G A rs141599100 NDST2 Nonsynonymous SNV R67W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.1 190302 chr10 7682791 7682791 G A rs534499974 ITIH5 Synonymous SNV G109G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 190303 chr10 81192423 81192425 GAG - ZCCHC24 F112_S113delinsL 0 0 0.003 0 0 0 0 1 0 0 0 0 190304 chr2 32903986 32903986 A G rs144352666 TTC27 Synonymous SNV T322T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.49 190305 chr2 219222308 219222308 C T rs142157169 CATIP Nonsynonymous SNV S68L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 190306 chr2 219232610 219232610 G A rs142470785 CATIP Nonsynonymous SNV A374T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.82 190307 chr14 65237693 65237693 G A rs200540305 SPTB Nonsynonymous SNV A1903V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.77 190308 chr22 18348748 18348748 T C MICAL3 Nonsynonymous SNV Y820C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 190309 chr14 65262277 65262277 G A rs755620938 SPTB Synonymous SNV Y474Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.075 190310 chr17 7483890 7483890 T C CD68 Nonsynonymous SNV F198S 0.003 0 0 0 4 0 0 0 0 0 0 0 28.9 190311 chr1 92707800 92707800 G A rs753716244 C1orf146 Nonsynonymous SNV R33Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.891 190312 chr17 7909969 7909969 G A rs140638938 GUCY2D Nonsynonymous SNV G439R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 190313 chr10 93390113 93390113 G T rs141426360 PPP1R3C Synonymous SNV V175V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 190314 chr1 225600298 225600298 G A LBR Synonymous SNV F314F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.135 190315 chr14 73822340 73822340 C T rs780987980 NUMB Synonymous SNV P40P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.76 190316 chr14 74154044 74154044 A T rs751754576 DNAL1 Nonsynonymous SNV K116I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 190317 chr14 74154047 74154047 T G rs535885451 DNAL1 Nonsynonymous SNV L117W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 190318 chr2 48925824 48925824 C G rs766784158 LHCGR Nonsynonymous SNV V266L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.29 190319 chr10 98741960 98741960 C T rs770319079 LCOR Synonymous SNV D581D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.922 190320 chr2 227662555 227662555 G A IRS1 Synonymous SNV T300T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 190321 chr10 99023259 99023259 G A rs772987776 ARHGAP19 Synonymous SNV A177A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 190322 chr1 228496023 228496023 C T rs368833656 OBSCN Synonymous SNV D4226D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.06 190323 chr1 228566084 228566084 G A rs769113229 OBSCN Nonsynonymous SNV V7898M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 190324 chr2 228157960 228157960 T G rs770449474 COL4A3 Synonymous SNV P1088P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.601 190325 chr14 77794265 77794265 T C GSTZ1 Nonsynonymous SNV I77T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 190326 chr2 230655859 230655859 C T rs1031110076 TRIP12 Synonymous SNV K1163K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 190327 chr2 220099850 220099850 C T rs372230672 ANKZF1 Stop gain R293X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 37 190328 chr2 220131275 220131275 G A rs995086071 TUBA4B Synonymous SNV L15L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.939 190329 chr2 232393458 232393458 G A rs201056270 NMUR1 Nonsynonymous SNV R92C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 190330 chr1 235377325 235377325 C G ARID4B Nonsynonymous SNV E534Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 190331 chr1 236154319 236154319 G A rs138322087 NID1 Nonsynonymous SNV A932V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 11.48 190332 chr2 220431562 220431562 G A rs749550223 OBSL1 Synonymous SNV L708L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.962 190333 chr14 92268631 92268631 G C TC2N Nonsynonymous SNV P146A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.175 190334 chr2 227973952 227973952 C T COL4A4 Synonymous SNV E215E 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Uncertain significance 7.979 190335 chr1 237850805 237850805 G A RYR2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 190336 chr2 238726228 238726228 G A rs368947365 RBM44 Synonymous SNV S223S 0.003 0 0 0 3 0 0 0 0 0 0 0 2.967 190337 chr14 95669374 95669374 T G rs147963787 CLMN Nonsynonymous SNV E771A 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Likely benign 23.1 190338 chr11 111420422 111420422 A G rs150283266 LAYN Nonsynonymous SNV I11V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.298 190339 chr14 100125955 100125955 G C HHIPL1 Nonsynonymous SNV G413R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 190340 chr14 103568681 103568681 C T rs758546204 EXOC3L4 Synonymous SNV D207D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 190341 chr22 38211281 38211281 C G rs150003624 GCAT Nonsynonymous SNV T268R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.5 190342 chr2 26696951 26696951 G T rs727505141 OTOF Nonsynonymous SNV P416T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 190343 chr2 26698780 26698780 A C rs370132645 OTOF 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23.4 190344 chr14 105176521 105176521 C T INF2 Synonymous SNV C745C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.91 190345 chr11 118923382 118923382 G A rs782128419 HYOU1 Synonymous SNV T318T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 190346 chr14 105405532 105405532 T A rs746162370 AHNAK2 Nonsynonymous SNV N5319I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 190347 chr3 108372995 108372995 A G rs149281649 DZIP3 Synonymous SNV P679P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.456 190348 chr3 108373135 108373135 A G rs746316530 DZIP3 Nonsynonymous SNV H726R 0 0.003 0 0 0 1 0 0 0 0 0 0 26 190349 chr2 27447242 27447242 C T rs368071348 CAD Nonsynonymous SNV P380S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 190350 chr11 119182845 119182845 C T rs1011266381 MCAM Nonsynonymous SNV E354K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.05 190351 chr20 3766981 3766981 G T CENPB Synonymous SNV R50R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 190352 chr2 27591591 27591591 C T rs368243788 EIF2B4 Nonsynonymous SNV R164H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.26 190353 chr2 27730941 27730941 G C rs371909870 GCKR Synonymous SNV L446L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.187 190354 chr2 27800739 27800739 G C rs372481388 C2orf16 Nonsynonymous SNV V434L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.998 190355 chr2 28826904 28826904 G A PLB1 Nonsynonymous SNV R938Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.22 190356 chr2 28843469 28843469 T C rs376998930 PLB1 Nonsynonymous SNV I1118T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.5 190357 chr2 242036740 242036740 G A rs140705093 MTERF4 Nonsynonymous SNV T20M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 190358 chr15 34127250 34127250 A C rs202181075 RYR3 Nonsynonymous SNV N3844H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 9.827 190359 chr2 3595566 3595566 G A rs138756800 RNASEH1 Synonymous SNV D217D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.376 190360 chr2 28055561 28055561 C A rs200856899 RBKS Stop gain E200X 0.004 0 0 1 5 0 0.003 0 0 0 0 0 44 190361 chr2 47249055 47249055 G A rs150438028 TTC7A Nonsynonymous SNV G129R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.5 190362 chr20 57617823 57617823 G A SLMO2-ATP5E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.486 190363 chr2 102507699 102507699 T A MAP4K4 Synonymous SNV L1236L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.199 190364 chr15 43584295 43584295 T A rs181416302 TGM7 Nonsynonymous SNV E147V 0 0.005 0 0 0 2 0 0 0 0 0 0 26.5 190365 chr15 43622087 43622087 C A rs1045189749 LCMT2 Nonsynonymous SNV A201S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.6 190366 chr19 4538780 4538780 G A rs116518576 LRG1 Synonymous SNV H72H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.581 190367 chr2 61009022 61009022 A G PAPOLG Synonymous SNV V303V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 190368 chr3 129262077 129262077 G A rs118098064 H1-8 Nonsynonymous SNV V6I 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 1.458 190369 chr3 129281718 129281718 C T rs2285359 PLXND1 Synonymous SNV T1579T 0.004 0.01 0 3 5 4 0.008 0 0 0 0 0 18.04 190370 chr17 45360896 45360896 T C rs5920 ITGB3 Synonymous SNV I114I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 8.558 190371 chr17 45914125 45914136 AGGAGCTGGAGC - rs142960476 LRRC46 E205_L208del 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 190372 chr17 46000412 46000412 A G rs114228308 SP2 Nonsynonymous SNV T382A 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 12.52 190373 chr17 46030460 46030460 G C rs9908317 PRR15L Synonymous SNV P47P 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 2.54 190374 chr15 55838386 55838386 T C rs138742848 PYGO1 Synonymous SNV K365K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.367 190375 chr15 56686388 56686388 C G rs140451868 TEX9 Synonymous SNV A124A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.7 190376 chr20 62500730 62500730 G A rs116597522 TPD52L2 Nonsynonymous SNV R11Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.44 190377 chr2 69409629 69409629 G A rs765361538 ANTXR1 Nonsynonymous SNV R397H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 190378 chr15 63009793 63009793 G A rs776142002 TLN2 Nonsynonymous SNV A928T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 190379 chr20 9416248 9416248 A G rs151284195 PLCB4 Nonsynonymous SNV I844V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.11 190380 chr2 71295830 71295830 G C rs2241265 NAGK Nonsynonymous SNV G6A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 190381 chr17 56382922 56382922 A G TSPOAP1 Synonymous SNV S1720S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.671 190382 chr21 31744469 31744469 G C rs1046216624 KRTAP13-2 Stop gain Y21X 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 190383 chr15 69329401 69329401 G A rs141804052 NOX5 Nonsynonymous SNV V380M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.39 190384 chr21 31869331 31869331 C T rs973143755 KRTAP19-4 Nonsynonymous SNV R33H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.68 190385 chr15 70994219 70994219 G T UACA Nonsynonymous SNV N12K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 190386 chr11 403739 403739 - GTC PKP3 S683_R684insS 0 0 0.003 0 0 0 0 1 0 0 0 0 190387 chr15 72641499 72641499 T G HEXA Nonsynonymous SNV T303P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 190388 chr11 46886056 46886056 C G rs367608390 LRP4 Nonsynonymous SNV G1729A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 190389 chr3 111664167 111664167 G C PHLDB2 Nonsynonymous SNV G774A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 190390 chr21 39526562 39526562 G A rs116820085 DSCR8 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.588 190391 chr21 39528416 39528416 G A rs61748263 DSCR8 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.4 190392 chr21 39528454 39528454 G T rs61748275 DSCR8 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.355 190393 chr15 86312571 86312571 G A rs200737857 KLHL25 Synonymous SNV D157D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.122 190394 chr15 87066059 87066059 C T rs201217861 AGBL1 Synonymous SNV S858S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.89 190395 chr3 121187158 121187158 A G POLQ Nonsynonymous SNV M2280T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.887 190396 chr1 67559041 67559041 T C rs142887352 C1orf141 Nonsynonymous SNV M284V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.004 190397 chr3 121491436 121491436 G A rs776858973 IQCB1 Nonsynonymous SNV A379V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 190398 chr3 124303728 124303728 G C KALRN Nonsynonymous SNV K20N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 190399 chr11 55541095 55541095 T C rs763961243 OR5D13 Nonsynonymous SNV M61T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 190400 chr3 124739787 124739787 C T rs141398690 HEG1 Synonymous SNV T367T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.82 190401 chr17 76117160 76117160 C G TMC6 Nonsynonymous SNV C490S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.41 190402 chr1 874826 874826 - CCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA SAMD11 H235_D236insGEDPPWHDPPHHLPSH 0.002 0 0 1 2 0 0.003 0 0 0 0 0 190403 chr3 196509640 196509640 C T rs7620283 PAK2 Synonymous SNV P41P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.74 190404 chr1 89732755 89732755 C G GBP5 Synonymous SNV A170A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 190405 chr17 78063947 78063947 A G rs904605936 CCDC40 Nonsynonymous SNV R948G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.095 190406 chr16 1252389 1252389 G A rs147702970 CACNA1H Nonsynonymous SNV G647S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.888 190407 chr16 1270875 1270875 G A rs200158741 CACNA1H Nonsynonymous SNV G2309S 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 0.111 190408 chr17 79226050 79226050 C T rs754398165 SLC38A10 Synonymous SNV P630P 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.87 190409 chr16 1842172 1842172 C T rs375218525 IGFALS Nonsynonymous SNV G121S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.956 190410 chr16 2230134 2230134 G A rs767569279 CASKIN1 Nonsynonymous SNV R1079W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 190411 chr17 80141779 80141779 G C CCDC57 Nonsynonymous SNV S361C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.53 190412 chr3 40231460 40231460 G A rs147537031 MYRIP Nonsynonymous SNV D204N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.9 190413 chr16 2578618 2578618 - C rs763884300 AMDHD2 Frameshift insertion R346Qfs*56 0 0.003 0 0 0 1 0 0 0 0 0 0 190414 chr16 3085322 3085322 T C rs756399759 BICDL2 Nonsynonymous SNV K59R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 190415 chr16 3165840 3165840 C G rs753848515 ZNF205 Synonymous SNV S94S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.752 190416 chr22 31487681 31487681 G A rs147465019 SMTN Nonsynonymous SNV A550T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.41 190417 chr3 149048185 149048185 G T rs146475504 TM4SF18 Nonsynonymous SNV L67I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.3 190418 chr3 139062943 139062943 C T rs761176719 MRPS22 Synonymous SNV F25F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.89 190419 chr22 35789521 35789521 C T rs35980144 HMOX1 Nonsynonymous SNV P266L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 190420 chr3 142567275 142567275 T A rs41267847 PCOLCE2 Nonsynonymous SNV I78L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19 190421 chr3 156232921 156232921 G C KCNAB1 Nonsynonymous SNV M230I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 190422 chr11 608262 608262 T C rs539237004 PHRF1 Nonsynonymous SNV S936P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.72 190423 chr22 39497268 39497268 T C rs141418864 APOBEC3H Synonymous SNV F59F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.158 190424 chr3 47537662 47537662 G A rs750714055 ELP6 Nonsynonymous SNV S233L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.58 190425 chr3 47680224 47680224 C T rs971969263 SMARCC1 Synonymous SNV Q789Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.07 190426 chr11 614349 614349 G A rs201641200 IRF7 Synonymous SNV A181A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.191 190427 chr2 219674332 219674332 G T CYP27A1 Nonsynonymous SNV W96C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 190428 chr11 61511724 61511724 C T rs749185685 DAGLA Synonymous SNV F964F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 190429 chr22 40802640 40802640 G A SGSM3 Nonsynonymous SNV A324T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 190430 chr3 156711008 156711008 A G rs758938781 LEKR1 Nonsynonymous SNV I351V 0.003 0 0 0 4 0 0 0 0 0 0 0 0.019 190431 chr16 16259698 16259698 G A rs72653705 ABCC6 Stop gain R1030X 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 39 190432 chr3 157004415 157004415 C T rs767354091 VEPH1 Nonsynonymous SNV V642M 0.003 0 0 0 4 0 0 0 0 0 0 0 32 190433 chr20 31518423 31518423 G A EFCAB8 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 190434 chr16 22358675 22358675 C T rs760931808 CDR2 Nonsynonymous SNV G326S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 190435 chr3 18391154 18391154 T C rs751440509 SATB1 Synonymous SNV Q528Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 190436 chr22 46657340 46657340 G A rs374067572 PKDREJ Nonsynonymous SNV S627F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.722 190437 chr3 184296210 184296210 G A EPHB3 Nonsynonymous SNV R586Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 190438 chr16 28856359 28856359 A G rs775545673 TUFM Synonymous SNV T144T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.625 190439 chr20 37536684 37536684 C T PPP1R16B Stop gain R306X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 190440 chr11 65088663 65088663 C T rs149131506 CDC42EP2 Synonymous SNV D98D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.26 190441 chr11 65144022 65144022 C T SLC25A45 Synonymous SNV G217G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.87 190442 chr20 42680082 42680082 G A rs376494319 TOX2 Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 190443 chr11 65637427 65637427 C T rs546162289 EFEMP2 Nonsynonymous SNV G210R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 190444 chr20 43881730 43881730 - G rs745834619 SLPI Frameshift insertion N103Qfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 190445 chr2 10044994 10044994 C T rs142976824 TAF1B Nonsynonymous SNV P17S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 190446 chr11 65793518 65793518 G A rs575875557 CATSPER1 Synonymous SNV Y111Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.059 190447 chr3 97591529 97591529 G A rs74603660 CRYBG3 Synonymous SNV Q497Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.526 190448 chr3 97595165 97595165 C T rs561828738 CRYBG3 Synonymous SNV P1709P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.572 190449 chr20 45315437 45315437 T A TP53RK Nonsynonymous SNV L239F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 21.9 190450 chr18 67684875 67684875 C A rs77798966 RTTN Nonsynonymous SNV L1151F 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Uncertain significance 25.8 190451 chr11 67264856 67264856 G A rs746232100 PITPNM1 Synonymous SNV S664S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.226 190452 chr11 67888436 67888447 GGCAGCGGCAGC - rs745705209 CHKA L67_P70del 0 0 0.003 0 0 0 0 1 0 0 0 0 190453 chr2 111691068 111691068 A G rs202156564 ACOXL Nonsynonymous SNV Y303C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.64 190454 chr11 68682346 68682346 C G rs148095551 IGHMBP2 Nonsynonymous SNV A256G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.9 190455 chr3 195594068 195594068 C T rs143348369 TNK2 Nonsynonymous SNV S985N 0.006 0 0 1 7 0 0.003 0 0 0 0 0 15.2 190456 chr2 112940390 112940390 C T rs534725543 FBLN7 Synonymous SNV Y185Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.82 190457 chr4 100570644 100570644 G A rs777782717 C4orf54 Nonsynonymous SNV T1721M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 190458 chr3 28566167 28566167 G A rs765011518 ZCWPW2 Nonsynonymous SNV M291I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 190459 chr2 11362259 11362259 T G rs765702766 ROCK2 Nonsynonymous SNV Q264P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.13 190460 chr3 32915405 32915405 G A rs147066271 TRIM71 Synonymous SNV E316E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.59 190461 chr2 114489196 114489196 G C SLC35F5 Nonsynonymous SNV A311G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 190462 chr3 36874071 36874071 G T rs200927629 TRANK1 Nonsynonymous SNV Q2291K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.898 190463 chr16 61761100 61761100 T C rs538593171 CDH8 Synonymous SNV S478S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.978 190464 chr16 67233272 67233272 C G rs749922307 ELMO3 Nonsynonymous SNV R15G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 190465 chr2 119604330 119604330 T A rs753667886 EN1 Synonymous SNV G138G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 190466 chr2 119604352 119604352 G T EN1 Nonsynonymous SNV A131E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.18 190467 chr11 73688998 73688998 C T rs140974565 UCP2 Nonsynonymous SNV M90I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 190468 chr3 32031458 32031458 A G rs192413391 ZNF860 Nonsynonymous SNV N296S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.001 190469 chr16 69221233 69221233 C G SNTB2 Nonsynonymous SNV A55G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.61 190470 chr4 110897252 110897252 C T rs11568992 EGF Synonymous SNV S596S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.22 190471 chr4 111474532 111474532 C T rs201624755 ENPEP Stop gain R855X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 47 190472 chr11 74651899 74651899 G A rs201378132 XRRA1 Synonymous SNV L9L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.73 190473 chr11 76507119 76507119 G T rs374281937 TSKU Synonymous SNV T153T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.129 190474 chr2 131103493 131103493 G A rs144350259 IMP4 Nonsynonymous SNV R109H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 190475 chr16 72130884 72130884 G T rs201640902 DHX38 Nonsynonymous SNV D163Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 22.5 190476 chr2 135985406 135985406 C T rs770499003 ZRANB3 Nonsynonymous SNV G712R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.424 190477 chr16 75327912 75327912 G A CFDP1 Stop gain R280X 0 0.003 0 0 0 1 0 0 0 0 0 0 46 190478 chr3 44285980 44285980 G A rs900864389 TOPAZ1 Nonsynonymous SNV R661Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 190479 chr11 8435222 8435222 C T rs779391532 STK33 Synonymous SNV S201S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 190480 chr4 134072946 134072946 C A PCDH10 Nonsynonymous SNV P551T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 190481 chr19 1923176 1923176 C T rs116369903 SCAMP4 Nonsynonymous SNV A124V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.35 190482 chr2 31414885 31414885 G A rs369708091 CAPN14 Synonymous SNV S398S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.62 190483 chr2 31416065 31416065 G A CAPN14 Nonsynonymous SNV T349M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.544 190484 chr3 44816886 44816886 A G KIF15 Nonsynonymous SNV K68R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.3 190485 chr3 44843458 44843458 C T rs1002572191 KIF15 Stop gain R501X 0.003 0 0 0 3 0 0 0 0 0 0 0 38 190486 chr11 94861846 94861846 A G rs184606168 ENDOD1 Synonymous SNV T202T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 190487 chr4 15444203 15444203 G A rs150953206 C1QTNF7 Nonsynonymous SNV R224Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 190488 chr11 95826389 95826389 G A rs201372993 MAML2 Nonsynonymous SNV P269L 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 27.9 190489 chr12 100926308 100926308 T C rs61755050 NR1H4 Nonsynonymous SNV M183T 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Likely benign 24.4 190490 chr2 1639181 1639181 T C PXDN Nonsynonymous SNV K1440R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.618 190491 chr3 47447274 47447274 C A rs751167452 PTPN23 Synonymous SNV R8R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 22.9 190492 chr3 49274124 49274124 A T CCDC36 Nonsynonymous SNV H67L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 190493 chr3 48461245 48461245 T C rs750458595 PLXNB1 Nonsynonymous SNV D817G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 21 190494 chr2 54482618 54482618 A G rs760682062 TSPYL6 Nonsynonymous SNV L224P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 190495 chr3 48730434 48730434 G A rs765704684 IP6K2 Synonymous SNV T127T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 1.119 190496 chr3 49699472 49699472 C T rs149293113 BSN Synonymous SNV V3398V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 7.584 190497 chr3 49842168 49842168 T C INKA1 Synonymous SNV P175P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.076 190498 chr2 61415567 61415569 TTC - rs749974086 USP34 E3437del 0 0.005 0 0 0 2 0 0 0 0 0 0 190499 chr3 51990145 51990145 T A GPR62 Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.145 190500 chr3 51747111 51747111 G A rs148285622 GRM2 Nonsynonymous SNV R358Q 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 18.62 190501 chr16 88808474 88808474 T C rs1051839069 PIEZO1 Nonsynonymous SNV I105V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.259 190502 chr21 38564448 38564448 T C rs146446431 TTC3 Synonymous SNV N995N 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 5.369 190503 chr16 88904097 88904097 A C rs148565559 GALNS Nonsynonymous SNV F167V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.7 190504 chr3 52021204 52021204 A C rs121912699 ABHD14A-ACY1, ACY1 Nonsynonymous SNV E161D 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Pathogenic 26.3 190505 chr3 52238913 52238913 G A rs145784344 ALAS1 Nonsynonymous SNV R261Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24 190506 chr3 52256085 52256085 C T rs199756615 TLR9 Synonymous SNV A749A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 6.781 190507 chr3 52387292 52387292 C T rs114066123 DNAH1 Synonymous SNV C1067C 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 13.97 190508 chr3 52469798 52469798 C T SEMA3G Nonsynonymous SNV E724K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 190509 chr3 52526220 52526220 G A rs777918537 NISCH Nonsynonymous SNV V1413I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 190510 chr2 71043777 71043777 T C rs782531692 CLEC4F Nonsynonymous SNV S246G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.39 190511 chr16 89350068 89350068 C T rs750887042 ANKRD11 Nonsynonymous SNV R961H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 190512 chr16 90075741 90075741 C T rs939853120 DBNDD1 Synonymous SNV G43G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.55 190513 chr17 695218 695218 C A MRM3 Stop gain S195X 0 0.003 0 0 0 1 0 0 0 0 0 0 44 190514 chr21 43716288 43716288 G T ABCG1 Nonsynonymous SNV G608V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 190515 chr12 116972742 116972742 C G rs757277023 LINC00173 0 0 0.003 0 0 0 0 1 0 0 0 0 5.916 190516 chr3 58303473 58303475 AGG - HTD2 R46del 0.002 0 0 0 2 0 0 0 0 0 0 0 190517 chr12 119588853 119588853 G A rs201110391 SRRM4 Nonsynonymous SNV E370K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 190518 chr12 120750274 120750274 T A rs984498246 SIRT4 Nonsynonymous SNV D171E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.677 190519 chr3 78655908 78655908 T A rs767818822 ROBO1 Synonymous SNV P1473P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.773 190520 chr4 25032247 25032247 C T LGI2 Synonymous SNV L23L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 190521 chr3 8809836 8809836 G A OXTR Nonsynonymous SNV A13V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 190522 chr12 123276598 123276598 T G CCDC62 Nonsynonymous SNV N234K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 190523 chr3 9870922 9870922 G A ARPC4-TTLL3, TTLL3 Stop gain W609X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 190524 chr3 99567455 99567455 G A rs781236985 FILIP1L Nonsynonymous SNV P782L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 190525 chr3 98620085 98620085 G A DCBLD2 Nonsynonymous SNV A29V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 23.5 190526 chr12 130884296 130884296 G A rs757896649 RIMBP2 Synonymous SNV D1020D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 190527 chr12 132426489 132426489 C T rs35461276 PUS1 Synonymous SNV F371F 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.207 190528 chr4 100521789 100521789 T C rs543779814 MTTP Synonymous SNV L406L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.165 190529 chr12 133350799 133350799 C T rs148152813 GOLGA3 Synonymous SNV P1417P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 11.18 190530 chr17 4864086 4864086 T G SPAG7 Nonsynonymous SNV K50Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.19 190531 chr1 159900593 159900593 G A rs147025620 IGSF9 Nonsynonymous SNV H568Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.193 190532 chr12 21205187 21205197 GAGCCCATAGT - rs770859569 SLCO1B7 E450_I452del 0 0 0.003 0 0 0 0 1 0 0 0 0 190533 chr4 126242143 126242143 T C rs200169032 FAT4 Nonsynonymous SNV V1526A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.789 190534 chr4 62775327 62775327 A G rs556396617 ADGRL3 Nonsynonymous SNV Q573R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.73 190535 chr12 32138305 32138305 G A rs986865284 RESF1 Synonymous SNV V1472V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.225 190536 chr12 40692926 40692926 G A rs757802734 LRRK2 Synonymous SNV G1121G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.739 190537 chr4 13603690 13603690 C T rs148363183 BOD1L1 Nonsynonymous SNV E1612K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 34 190538 chr17 8707473 8707473 T C rs754507792 PIK3R6 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 190539 chr17 10555850 10555850 C T rs763858044 MYH3 Nonsynonymous SNV A79T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 190540 chr4 151729480 151729480 T C LRBA Synonymous SNV S1792S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.609 190541 chr4 154214187 154214187 G A rs945034696 TRIM2 Synonymous SNV T142T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 190542 chr12 49690509 49690509 T C rs2070761 LOC101927267 0 0 0.014 0 0 0 0 4 0 0 0 0 1.165 190543 chr4 154525145 154525145 C T rs371700255 TMEM131L Nonsynonymous SNV A994V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.179 190544 chr17 15942832 15942832 C T rs139149781 NCOR1 Nonsynonymous SNV M2187I 0.003 0.003 0.014 0 3 1 0 4 0 0 1 0 Benign 14.72 190545 chr19 17283768 17283768 T C rs192697428 MYO9B Synonymous SNV A712A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.157 190546 chr17 18077102 18077104 TGG - MYO15A V3454del 0 0.003 0 0 0 1 0 0 0 0 0 0 190547 chr12 51458057 51458057 G A rs150122327 CSRNP2 Synonymous SNV P368P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.444 190548 chr17 18219499 18219499 C T SMCR8 Synonymous SNV A132A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.718 190549 chr14 92537354 92537354 C G rs12895357 ATXN3 Nonsynonymous SNV G23A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 6.212 190550 chr2 232209714 232209714 C T rs144026971 ARMC9 Nonsynonymous SNV R603W 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Likely benign 28.3 190551 chr22 38478875 38478875 G T rs181602341 SLC16A8 Synonymous SNV G2G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.12 190552 chr22 40657959 40657959 C T rs760307778 TNRC6B Nonsynonymous SNV P80L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 190553 chr4 175252740 175252740 T C CEP44 Synonymous SNV C398C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 190554 chr22 41573313 41573313 G A rs560633624 EP300 Synonymous SNV P1840P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.245 190555 chr4 183717856 183717856 C T TENM3 Nonsynonymous SNV P2427L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 190556 chr2 234720571 234720571 C T rs368947612 MROH2A Stop gain R873X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 190557 chr17 26732323 26732323 G T rs782164370 SLC46A1 Nonsynonymous SNV S131Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 190558 chr17 26972042 26972042 C T rs770182664 KIAA0100 Synonymous SNV L11L 0 0.005 0 0 0 2 0 0 0 0 0 0 16.34 190559 chr22 42458863 42458863 G A rs760857039 NAGA Nonsynonymous SNV P309S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 190560 chr12 56078893 56078893 G A rs372977210 ITGA7 Synonymous SNV D673D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.892 190561 chr12 56479059 56479059 C T rs762050460 ERBB3 Nonsynonymous SNV A172V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.967 190562 chr4 185941595 185941595 C T rs369690789 HELT Nonsynonymous SNV A133V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 190563 chr12 56715891 56715891 C T rs369878938 PAN2 Nonsynonymous SNV R924Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 190564 chr3 147131158 147131158 G A rs770353879 ZIC1 Synonymous SNV S388S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.26 190565 chr22 43471598 43471598 T C TTLL1 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.3 190566 chr4 187003651 187003651 C T TLR3 Synonymous SNV L271L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.255 190567 chr3 148744278 148744278 T C GYG1 Nonsynonymous SNV F290L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.77 190568 chr17 33769304 33769304 A G rs947263429 SLFN13 Synonymous SNV V400V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 190569 chr4 187518916 187518916 T G rs202166446 FAT1 Nonsynonymous SNV E4096D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.03 190570 chr1 200544759 200544759 C T rs762016099 KIF14 Nonsynonymous SNV D685N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 190571 chr4 187539396 187539396 A C FAT1 Nonsynonymous SNV C2782G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.798 190572 chr12 58163704 58163704 G A rs118007790 METTL1 Synonymous SNV L104L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 190573 chr3 152553978 152553978 A G rs779398688 P2RY1 Nonsynonymous SNV Y136C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27 190574 chr4 187525123 187525123 A G rs374694210 FAT1 Synonymous SNV D3519D 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.406 190575 chr3 15686534 15686534 C T rs35034250 BTD Nonsynonymous SNV P371S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 10.69 190576 chr17 37826316 37826316 G A rs34341496 PNMT Nonsynonymous SNV A175T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 22 190577 chr4 25363516 25363516 A G rs758711668 ZCCHC4 Synonymous SNV G349G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.401 190578 chr5 120022006 120022006 T C rs140122947 PRR16 Nonsynonymous SNV C173R 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 24.4 190579 chr2 242099907 242099907 C T rs755950913 PPP1R7 Nonsynonymous SNV R156W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 190580 chr17 38555188 38555188 A G rs61732514 TOP2A Nonsynonymous SNV V1097A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 13.3 190581 chr4 2934844 2934844 G A MFSD10 Synonymous SNV L121L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.214 190582 chr3 170928973 170928973 G A rs777611252 TNIK Nonsynonymous SNV R80W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 190583 chr14 105962375 105962375 G A TEDC1 Synonymous SNV L281L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.118 190584 chr12 7050171 7050171 C T rs782222013 ATN1 Nonsynonymous SNV R1115C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 190585 chr12 7459282 7459282 G - rs761112065 ACSM4 Stop gain V119* 0 0 0.003 0 0 0 0 1 0 0 0 0 190586 chr4 3534018 3534018 T C LRPAP1 Nonsynonymous SNV Q41R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 190587 chr3 183442219 183442219 A G rs16858033 YEATS2 Nonsynonymous SNV I184V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.002 190588 chr3 183465483 183465483 G A rs75535501 YEATS2 Synonymous SNV L316L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.15 190589 chr3 183508590 183508590 A G rs79808533 YEATS2 Synonymous SNV E973E 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.85 190590 chr3 183508714 183508714 G A rs74496163 YEATS2 Nonsynonymous SNV A1015T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 14.2 190591 chr3 183521870 183521870 C T rs200964239 YEATS2 Synonymous SNV I1226I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.69 190592 chr3 183525684 183525684 A T rs2290571 YEATS2-AS1 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.636 190593 chr12 78594323 78594323 C T rs183153470 NAV3 Synonymous SNV N2240N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.2 190594 chr3 183585739 183585739 A G rs143490950 PARL Synonymous SNV L79L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.242 190595 chr3 183960731 183960731 G T rs568371168 ALG3 Nonsynonymous SNV L294I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 190596 chr12 90024393 90024393 T C ATP2B1 Nonsynonymous SNV M207V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 190597 chr4 502709 502709 A T rs782739263 PIGG Nonsynonymous SNV E151V 0.002 0 0 0 2 0 0 0 0 0 0 0 27 190598 chr5 140250135 140250135 G T rs371515299 PCDHA11 Nonsynonymous SNV A483S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.7 190599 chr4 5838585 5838585 G C rs778302109 CRMP1 Synonymous SNV A453A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.981 190600 chr4 5990246 5990246 G T rs547727387 C4orf50 Nonsynonymous SNV A997D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 14.16 190601 chr17 43012645 43012645 C G rs117875850 KIF18B Synonymous SNV V151V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 190602 chr5 140769133 140769133 T A rs757362223 PCDHGB4 Nonsynonymous SNV L561Q 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.8 190603 chr17 45886471 45886471 G A rs145943050 OSBPL7 Nonsynonymous SNV T714M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.64 190604 chr4 6863271 6863271 A G rs764942275 KIAA0232 Nonsynonymous SNV M388V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 190605 chr13 113793762 113793762 C T rs747030511 F10 Synonymous SNV F116F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.55 190606 chr13 113980393 113980393 C T rs201875292 GRTP1 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 190607 chr19 44501409 44501409 G A rs759520278 ZNF155 Nonsynonymous SNV R467Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.2 190608 chr13 21237416 21237416 A G rs111647114 IFT88 Nonsynonymous SNV R676G 0 0 0.014 0 0 0 0 4 0 0 0 0 4.599 190609 chr3 38022264 38022264 C T rs115508245 CTDSPL Nonsynonymous SNV T235M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 190610 chr4 8233717 8233717 G A rs756415018 SH3TC1 Nonsynonymous SNV V913I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 190611 chr13 30521771 30521771 G A rs777982802 LINC00544 0 0 0.003 0 0 0 0 1 0 0 0 0 3.486 190612 chr17 61560501 61560501 C G rs28730839 ACE Nonsynonymous SNV P485R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 19.27 190613 chr5 154278778 154278778 T A rs372221216 GEMIN5 Nonsynonymous SNV D1035V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 190614 chr2 74900889 74900889 G A rs897613198 SEMA4F Synonymous SNV T219T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 190615 chr17 62050150 62050150 G T rs78592515 SCN4A Nonsynonymous SNV R18S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 190616 chr2 85779090 85779090 C T rs121909676 GGCX Nonsynonymous SNV R428H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 190617 chr4 88996038 88996038 A G PKD2 Nonsynonymous SNV K866R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 190618 chr4 89378460 89378460 C A rs1019686627 HERC5 Nonsynonymous SNV R14S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.57 190619 chr4 89625357 89625357 T C HERC3 Synonymous SNV L804L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.389 190620 chr13 50589681 50589681 A G rs773512879 KCNRG Nonsynonymous SNV T18A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 190621 chr4 89627979 89627979 C T rs144613438 HERC3 Synonymous SNV S889S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.99 190622 chr2 9514961 9514961 C T rs768539515 ASAP2 Nonsynonymous SNV A545V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.22 190623 chr3 45779101 45779101 A G SACM1L Synonymous SNV Q361Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.839 190624 chr3 47032743 47032743 A G NBEAL2 Nonsynonymous SNV I190M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.079 190625 chr13 95829966 95829966 G A rs143907101 ABCC4 Synonymous SNV F499F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.745 190626 chr3 48677540 48677540 G A rs200877975 CELSR3 Nonsynonymous SNV R3160C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 190627 chr5 10258288 10258288 T C rs751271784 CCT5 Nonsynonymous SNV M144T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.58 190628 chr5 10681261 10681261 C T rs77265616 DAP Nonsynonymous SNV R58Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.25 190629 chr2 179410704 179410704 G A rs72648258 TTN Synonymous SNV L22688L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 11.86 190630 chr14 103440448 103440448 C T CDC42BPB Nonsynonymous SNV A516T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.143 190631 chr2 179463991 179463991 C T rs72646827 TTN Synonymous SNV T9778T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 17.48 190632 chr2 179517019 179517019 A T rs12474306 TTN Synonymous SNV P10627P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign/Likely benign 1.474 190633 chr2 179593270 179593270 A G rs76771282 TTN Synonymous SNV N5217N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 1.48 190634 chr5 115783505 115783505 C A SEMA6A Nonsynonymous SNV V633L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 190635 chr2 179595372 179595372 T C rs146983095 TTN Nonsynonymous SNV E4719G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 15.76 190636 chr3 112267464 112267464 G C rs148263416 ATG3 Nonsynonymous SNV Q87E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 190637 chr14 105185146 105185146 C T rs199912466 INF2 Nonsynonymous SNV P1237S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 15.88 190638 chr17 76235169 76235169 G A rs377630810 TMEM235 Synonymous SNV T85T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.036 190639 chr17 76563113 76563113 A T rs143337442 DNAH17 Nonsynonymous SNV C474S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.488 190640 chr14 20388875 20388875 T C OR4K5 Nonsynonymous SNV V37A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 190641 chr17 76993272 76993272 C A rs140112462 CANT1 Nonsynonymous SNV V145L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 190642 chr1 2522516 2522520 CGACC - MMEL1 G750Afs*84 0 0 0 1 0 0 0.003 0 0 0 0 0 190643 chr3 11885645 11885645 A - TAMM41 V59Afs*8 0.002 0.003 0 0 2 1 0 0 0 0 0 0 190644 chr14 21167642 21167642 C T rs143247343 RNASE4 Nonsynonymous SNV R38W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.8 190645 chr17 78272226 78272226 G A RNF213 Synonymous SNV P706P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.226 190646 chr5 133648026 133648026 G C rs954197742 CDKL3 Nonsynonymous SNV L91V 0.003 0 0 0 4 0 0 0 0 0 0 0 25.2 190647 chr5 134910364 134910364 T C rs146115267 CXCL14 Nonsynonymous SNV K61R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 24.2 190648 chr5 37721231 37721231 C T WDR70 Synonymous SNV C455C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 190649 chr15 90193115 90193115 T C rs778381085 KIF7 Nonsynonymous SNV K129R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 16.16 190650 chr5 138356903 138356903 C G SIL1 Nonsynonymous SNV V242L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.79 190651 chr5 138730394 138730394 G T rs763906406 PROB1 Nonsynonymous SNV A126E 0.003 0 0 0 4 0 0 0 0 0 0 0 0.71 190652 chr5 138730395 138730395 C T rs776292607 PROB1 Nonsynonymous SNV A126T 0.003 0 0 0 4 0 0 0 0 0 0 0 12.21 190653 chr5 140034307 140034307 G A rs771915599 IK Nonsynonymous SNV R211H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.9 190654 chr2 203990212 203990212 T C NBEAL1 Synonymous SNV D911D 0.002 0 0 4 2 0 0.01 0 0 0 0 0 0.002 190655 chr1 3328789 3328789 G A rs374816891 PRDM16 Synonymous SNV P676P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.273 190656 chr1 3426522 3426522 G A rs762625697 MEGF6 Synonymous SNV C423C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.657 190657 chr5 140745395 140745395 C - PCDHGA5 L501Cfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 190658 chr3 129009632 129009632 A G HMCES Synonymous SNV Q98Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.869 190659 chr14 34904500 34904500 C T rs61748988 SPTSSA Synonymous SNV L41L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.65 190660 chr3 12957160 12957160 T A IQSEC1 Synonymous SNV L698L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.04 190661 chr14 35242879 35242879 C T rs115527378 BAZ1A Synonymous SNV L985L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.32 190662 chr14 35245332 35245332 G A rs35654708 BAZ1A Nonsynonymous SNV R844C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.115 190663 chr14 35550467 35550467 - T rs373465295 LOC101927178 0 0 0.007 0 0 0 0 2 0 0 0 0 190664 chr14 36207848 36207848 C T rs12587686 RALGAPA1 Synonymous SNV G486G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 13.84 190665 chr14 36623085 36623085 C T rs79002220 PTCSC3 0 0 0.003 0 0 0 0 1 0 0 0 0 6.376 190666 chr14 36623090 36623090 C G rs76156192 PTCSC3 0 0 0.003 0 0 0 0 1 0 0 0 0 3.608 190667 chr16 613959 613959 A G rs774559690 PRR35 Nonsynonymous SNV Y222C 0.002 0 0 0 2 0 0 0 0 0 0 0 19.05 190668 chr5 1411403 1411403 G A rs981167521 SLC6A3 Synonymous SNV A408A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.35 190669 chr16 624176 624176 G A rs746458449 PIGQ Synonymous SNV A34A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.45 190670 chr16 624604 624604 G A rs774945335 PIGQ Nonsynonymous SNV R177H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.231 190671 chr2 210782576 210782576 C T rs374867757 UNC80 Nonsynonymous SNV P1636L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 190672 chr5 141335417 141335417 A G rs140158416 PCDH12 Nonsynonymous SNV I667T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.652 190673 chr16 708539 708539 C T rs112132185 WDR90 Synonymous SNV H927H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.444 190674 chr16 709373 709373 G A rs112960809 WDR90 Nonsynonymous SNV D1061N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 190675 chr16 733034 733034 G A rs776362427 JMJD8 Synonymous SNV T181T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.38 190676 chr16 739443 739443 A G rs756284007 WDR24 Synonymous SNV R66R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 190677 chr14 52477657 52477657 C T NID2 Nonsynonymous SNV R1220H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 190678 chr3 14183264 14183264 G A rs757742631 TMEM43 Nonsynonymous SNV R391Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.1 190679 chr14 58030934 58030934 A G rs201360580 SLC35F4 Synonymous SNV H458H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 190680 chr2 220033764 220033764 G A rs770038591 SLC23A3 Nonsynonymous SNV T160I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.2 190681 chr5 150928941 150928941 T C rs767872665 FAT2 Nonsynonymous SNV I1568M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.81 190682 chr5 89821085 89821085 G A rs757996124 LYSMD3 Nonsynonymous SNV R8C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 190683 chr14 64687299 64687299 C G rs984688166 SYNE2 Nonsynonymous SNV Q177E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.001 190684 chr18 44101107 44101107 G A rs561122654 LOXHD1 Nonsynonymous SNV R535C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 190685 chr5 157065246 157065246 G A rs139814926 SOX30 Synonymous SNV F624F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 10.17 190686 chr5 156592939 156592939 G T rs753017086 FAM71B Nonsynonymous SNV L81I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 190687 chr20 390614 390614 C T RBCK1 Nonsynonymous SNV R38W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 190688 chr5 167719178 167719178 C G WWC1 Synonymous SNV P7P 0.003 0 0 3 4 0 0.008 0 0 0 0 0 15.63 190689 chr14 75017858 75017858 C T rs140234036 LTBP2 Nonsynonymous SNV R532Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.01 190690 chr14 75416191 75416191 C G PGF Nonsynonymous SNV V62L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.753 190691 chr5 171471995 171471995 C T rs369344814 STK10 Nonsynonymous SNV R933Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 190692 chr5 171780915 171780915 G A SH3PXD2B Synonymous SNV N254N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 190693 chr3 183906776 183906776 G A rs374622062 ABCF3 Nonsynonymous SNV R320Q 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 190694 chr4 169189075 169189075 - TA DDX60 Frameshift insertion T949Ifs*21 0 0.003 0 0 0 1 0 0 0 0 0 0 190695 chr14 91744272 91744272 G T CCDC88C Synonymous SNV P1684P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.977 190696 chr6 12122843 12122843 G A rs562520053 HIVEP1 Nonsynonymous SNV A939T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 190697 chr4 1725555 1725555 T G TACC3 Nonsynonymous SNV L88R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.002 190698 chr18 66504583 66504583 A G CCDC102B Nonsynonymous SNV T195A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 190699 chr14 94594989 94594989 C G IFI27L2 Nonsynonymous SNV V21L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.908 190700 chr18 72998476 72998476 G A rs574385316 TSHZ1 Nonsynonymous SNV A372T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.001 190701 chr14 96808015 96808015 A G rs772911834 ATG2B Synonymous SNV P256P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.948 190702 chr5 1814572 1814572 C T rs773991515 NDUFS6 Synonymous SNV N102N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.897 190703 chr19 648224 648224 C T rs14218 RNF126 Synonymous SNV T253T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 18.89 190704 chr15 101847684 101847685 AG - rs752548233 LOC100507472 0 0 0.007 0 0 0 0 2 0 0 0 0 190705 chr19 829580 829580 C T rs750313471 AZU1 Synonymous SNV T78T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 190706 chr15 25223029 25223029 G A rs369947986 SNRPN Synonymous SNV P175P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.875 190707 chr15 25417853 25417853 T C rs200514049 SNORD115-2 0 0 0.003 0 0 0 0 1 0 0 0 0 9.546 190708 chr15 25425645 25425645 G T rs28522423 SNORD115-6 0 0 0.01 0 0 0 0 3 0 0 0 0 2.015 190709 chr4 2306616 2306616 G A rs377484299 ZFYVE28 Nonsynonymous SNV S454L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.6 190710 chr3 197765463 197765463 G T rs143187271 LMLN Synonymous SNV L631L 0 0.005 0.007 4 0 2 0.01 2 0 0 0 0 12.77 190711 chr3 3084014 3084014 A C CNTN4 Nonsynonymous SNV S478R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.91 190712 chr4 2877718 2877718 G A rs370911124 ADD1 Nonsynonymous SNV D26N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 29.2 190713 chr3 37133028 37133028 T G rs763147410 LRRFIP2 Nonsynonymous SNV D114A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 190714 chr3 37792018 37792018 C G rs145492361 ITGA9 Synonymous SNV L833L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.409 190715 chr19 2733219 2733219 C T rs566732250 SLC39A3 Nonsynonymous SNV V159M 0 0.003 0 0 0 1 0 0 0 0 0 0 5.48 190716 chr19 3594863 3594863 T C rs200445019 TBXA2R Nonsynonymous SNV T399A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.086 190717 chr4 46976301 46976301 T C GABRA4 Synonymous SNV Q223Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.066 190718 chr5 66426143 66426143 G A rs55805554 MAST4 Synonymous SNV V423V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 12.41 190719 chr5 66462879 66462879 A G rs375637998 MAST4 Synonymous SNV X2363X 0.003 0 0 2 4 0 0.005 0 0 0 0 0 9.373 190720 chr5 67576508 67576508 G T PIK3R1 Nonsynonymous SNV V263L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 190721 chr19 4511623 4511623 G A rs377284048 PLIN4 Synonymous SNV T783T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.935 190722 chr20 44806748 44806748 A G CDH22 Synonymous SNV S584S 0.003 0 0 0 3 0 0 0 0 0 0 0 3.778 190723 chr2 64111194 64111194 G T UGP2 Nonsynonymous SNV C170F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 190724 chr15 55972695 55972695 G A rs753514502 PRTG Nonsynonymous SNV R270C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 190725 chr19 5997092 5997092 C T rs139431127 RFX2 Synonymous SNV T639T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.24 190726 chr5 76335451 76335451 A G rs765606144 AGGF1 Synonymous SNV Q259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 190727 chr15 58983876 58983876 T - HSP90AB4P 0 0 0.017 0 0 0 0 5 0 0 1 0 190728 chr16 75258615 75258615 G A rs375112297 CTRB1 Nonsynonymous SNV R170Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 190729 chr15 63986320 63986320 T C rs528623886 HERC1 Synonymous SNV Q1839Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.515 190730 chr5 89814789 89814789 A G rs775775236 LYSMD3 Synonymous SNV S256S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.829 190731 chr20 60893632 60893632 G A rs367686002 LAMA5 Nonsynonymous SNV R2373W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 190732 chr15 75248772 75248772 G T rs576270779 RPP25 Synonymous SNV A51A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.843 190733 chr15 77473845 77473847 TCT - rs766850738 PEAK1 K141del 0 0 0.003 0 0 0 0 1 0 0 0 0 190734 chr15 81592311 81592311 C T rs141838039 IL16 Nonsynonymous SNV R181W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 190735 chr6 110942345 110942345 C A CDK19 Nonsynonymous SNV A403S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.36 190736 chr15 85147428 85147428 A G rs149074721 ZSCAN2 Synonymous SNV P90P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.688 190737 chr6 117866704 117866704 A G DCBLD1 Nonsynonymous SNV M491V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.4 190738 chr4 955267 955267 G A rs771254147 DGKQ Synonymous SNV G854G 0 0.005 0 0 0 2 0 0 0 0 0 0 12.39 190739 chr3 113379075 113379075 G A USF3 Nonsynonymous SNV P485L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.31 190740 chr16 89649879 89649879 G A rs142648138 CPNE7 Synonymous SNV A175A 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 7.715 190741 chr3 121192202 121192202 T C rs771659045 POLQ Nonsynonymous SNV S2180G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 190742 chr3 121412779 121412779 C T rs375627586 GOLGB1 Synonymous SNV K2117K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.57 190743 chr17 1381758 1381758 G A rs143802377 MYO1C Nonsynonymous SNV T414I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 18.89 190744 chr15 91550703 91550703 G A VPS33B Nonsynonymous SNV A173V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 190745 chr3 121980990 121980990 G A CASR Nonsynonymous SNV V370M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.002 190746 chr15 93588258 93588258 C T rs373569017 RGMA Synonymous SNV P425P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 190747 chr6 137814509 137814509 A G rs117770313 OLIG3 Nonsynonymous SNV S267P 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 18.69 190748 chr6 139694719 139694719 G A rs753567563 CITED2 Synonymous SNV N121N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.664 190749 chr6 142397005 142397005 C T rs41289827 NMBR Nonsynonymous SNV C170Y 0.006 0.003 0 0 7 1 0 0 0 0 0 0 29.5 190750 chr6 56496105 56496105 G A rs150656535 DST Nonsynonymous SNV A812V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 190751 chr4 111482608 111482608 A T rs188236443 ENPEP Nonsynonymous SNV K923I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.395 190752 chr19 12691443 12691443 A G rs377726915 ZNF490 Synonymous SNV A482A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.933 190753 chr6 148865690 148865690 C A rs140316955 SASH1 Nonsynonymous SNV S789R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.6 190754 chr3 124896629 124896629 T A SLC12A8 Nonsynonymous SNV T194S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 190755 chr3 12581722 12581722 T C rs551161655 MKRN2OS Synonymous SNV A214A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.185 190756 chr21 44838906 44838906 G A rs369897512 SIK1, SIK1B Nonsynonymous SNV A486V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 190757 chr4 122872729 122872729 C T TRPC3 Nonsynonymous SNV R36H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 190758 chr6 152651957 152651957 C A SYNE1 Synonymous SNV T4550T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 190759 chr16 1560953 1560953 C T rs201065562 IFT140 Nonsynonymous SNV D1461N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.99 190760 chr16 1574691 1574691 C T rs151293332 IFT140 Synonymous SNV A1001A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 190761 chr3 128696889 128696889 T C KIAA1257 Synonymous SNV Q157Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 190762 chr16 16200716 16200716 G C rs201798499 ABCC1 Nonsynonymous SNV A953P 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 33 190763 chr17 5317440 5317440 G A rs547967988 NUP88 Nonsynonymous SNV A161V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 190764 chr16 1828030 1828030 G A rs35816944 SPSB3 Nonsynonymous SNV S171L 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 16.81 190765 chr16 1838604 1838604 C T rs33933410 NUBP2 Nonsynonymous SNV P87S 0.003 0.005 0.014 0 3 2 0 4 0 0 0 0 10.75 190766 chr16 19087152 19087152 G A rs367915577 COQ7 Synonymous SNV E121E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 190767 chr5 138728886 138728886 - G PROB1 Frameshift insertion K629Qfs*71 0 0.003 0 0 0 1 0 0 0 0 0 0 190768 chr6 160328143 160328143 T C MAS1 Synonymous SNV I52I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 190769 chr5 140237231 140237231 A G rs782060988 PCDHA10 Nonsynonymous SNV Q533R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 190770 chr19 17397483 17397483 - TT rs750592110 ANKLE1 Frameshift insertion L591Vfs*19 0 0.003 0 0 0 1 0 0 0 0 0 0 190771 chr5 140725036 140725036 C G PCDHGA3 Nonsynonymous SNV P479R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 190772 chr16 23569080 23569080 C T rs558869338 UBFD1 Nonsynonymous SNV A6V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 190773 chr5 140725897 140725897 G T rs771815344 PCDHGA3 Nonsynonymous SNV S766I 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 190774 chr22 21991357 21991357 T C rs138232832 CCDC116 X614Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.78 190775 chr16 3017153 3017153 G C rs990681795 KREMEN2 Nonsynonymous SNV G256R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 190776 chr6 18256636 18256636 T A rs1041927927 DEK Nonsynonymous SNV E102D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 190777 chr16 30667610 30667610 G A rs771512016 PRR14 Nonsynonymous SNV R579Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.651 190778 chr19 21349239 21349239 A G rs757799689 ZNF431 Synonymous SNV E66E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.056 190779 chr4 17492351 17492351 G A rs374458448 QDPR Nonsynonymous SNV P157L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 190780 chr19 23405533 23405533 G A rs183425731 ZNF724 Nonsynonymous SNV P505L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.2 190781 chr19 30020886 30020886 C A VSTM2B Nonsynonymous SNV A153E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 190782 chr5 149213195 149213195 G A rs371306547 PPARGC1B Nonsynonymous SNV R481Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.52 190783 chr6 27833378 27833378 C T rs773240444 H2AC16 Synonymous SNV R82R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.38 190784 chr7 100959700 100959700 C T rs145991606 IFT22 Synonymous SNV P33P 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 21 190785 chr16 48204094 48204098 CACAT - ABCC11 D1270Gfs*32 0.002 0 0.003 0 2 0 0 1 0 0 0 0 190786 chr16 4920529 4920529 A G rs748802512 UBN1 Nonsynonymous SNV K442E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 190787 chr17 18148541 18148541 G A rs144058499 FLII Nonsynonymous SNV R1186W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 35 190788 chr16 4935656 4935656 G A rs749462562 PPL Synonymous SNV I1000I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.755 190789 chr7 105111283 105111283 T C rs766061051 PUS7 Nonsynonymous SNV Y423C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.37 190790 chr5 150946230 150946230 C A rs202004831 FAT2 Nonsynonymous SNV A755S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.727 190791 chr16 53859997 53859997 G A rs765812416 FTO Synonymous SNV T89T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.127 190792 chr19 36120549 36120549 A G RBM42 Nonsynonymous SNV I86V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 190793 chr19 36214850 36214850 G A rs199942615 KMT2B Synonymous SNV S1092S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.51 190794 chr4 25005793 25005793 G A rs560726501 LGI2 Synonymous SNV D306D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.859 190795 chr6 35604899 35604899 T G rs372285993 FKBP5 Nonsynonymous SNV M48L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 190796 chr19 37211253 37211253 C T rs201636823 ZNF567 Nonsynonymous SNV R512C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 190797 chr4 2930158 2930158 G A rs200088947 ADD1 Nonsynonymous SNV D708N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 190798 chr16 66803993 66803993 C T rs199591456 TERB1 Nonsynonymous SNV A498T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 6.688 190799 chr16 67208147 67208147 G A rs199980306 NOL3 Synonymous SNV A25A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 190800 chr19 38782498 38782498 T C rs772251531 SPINT2 Nonsynonymous SNV L147P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 190801 chr5 172396461 172396461 C G rs779289794 RPL26L1 Nonsynonymous SNV L119V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 190802 chr16 68056725 68056725 G A rs369716802 DDX28 Synonymous SNV S127S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.62 190803 chr4 41621422 41621422 C T rs371092401 LIMCH1 Synonymous SNV T146T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 12.15 190804 chr16 69776253 69776255 CTT - rs779725754 NOB1 K407del 0 0 0.003 0 0 0 0 1 0 0 0 0 190805 chr4 42424853 42424853 T C ATP8A1 Synonymous SNV Q1077Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.611 190806 chr16 70509304 70509304 C T rs200793397 FCSK Nonsynonymous SNV S810L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 190807 chr7 134719414 134719414 - T AGBL3 Frameshift insertion L359Sfs*29 0.002 0.003 0 0 2 1 0 0 0 0 0 0 190808 chr19 40357520 40357520 A G rs199798429 FCGBP Nonsynonymous SNV C5265R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 190809 chr7 138593867 138593867 A T rs200468254 KIAA1549 Nonsynonymous SNV V1049E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 32 190810 chr19 40901866 40901866 C A PRX Nonsynonymous SNV G798V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 190811 chr19 41008068 41008068 A T rs144787579 SPTBN4 Nonsynonymous SNV I311L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 190812 chr6 44250133 44250133 C T rs376041801 TCTE1 Nonsynonymous SNV R337H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 190813 chr19 41709507 41709507 C T rs755173146 CYP2S1 Nonsynonymous SNV R377W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 190814 chr19 42873818 42873818 T C MEGF8 Synonymous SNV S2192S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.56 190815 chr17 37829838 37829838 G A PGAP3 Nonsynonymous SNV T157I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.5 190816 chr16 82182418 82182418 T C rs34375324 MPHOSPH6 Nonsynonymous SNV D134G 0.007 0.005 0.003 6 8 2 0.015 1 0 0 0 0 Benign 22.5 190817 chr16 83999211 83999211 C G rs148300856 OSGIN1 Nonsynonymous SNV R345G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 190818 chr3 38755450 38755450 C T rs138832868 SCN10A Nonsynonymous SNV R1170Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 190819 chr16 85698726 85698726 C G GSE1 Nonsynonymous SNV S813C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 190820 chr22 50636774 50636774 C T rs149334847 TRABD Synonymous SNV T323T 0.004 0 0 2 5 0 0.005 0 0 0 0 0 5.245 190821 chr16 87741998 87741998 C T rs138909472 KLHDC4 Nonsynonymous SNV D451N 0.002 0 0.01 0 2 0 0 3 0 0 0 0 16.16 190822 chr6 65622473 65622473 G A rs369347845 EYS Nonsynonymous SNV R849C 0.007 0 0 2 8 0 0.005 0 0 0 0 0 Uncertain significance 25.5 190823 chr6 8062845 8062845 A G BLOC1S5 Synonymous SNV L39L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 190824 chr6 8420955 8420955 C G rs372758023 SLC35B3 Synonymous SNV T195T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 190825 chr19 48048625 48048625 G A rs757347894 ZNF541 Synonymous SNV G387G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 7.512 190826 chr17 10250011 10250011 G T rs367907424 MYH13 Nonsynonymous SNV Q417K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 190827 chr17 11787013 11787013 G C rs145691202 DNAH9 Synonymous SNV V3639V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 190828 chrX 48849847 48849847 G A rs201198663 GRIPAP1 Synonymous SNV N150N 0.002 0.005 0 0 2 2 0 0 0 1 0 0 9.77 190829 chr22 40814743 40814743 C T rs202141481 MRTFA Nonsynonymous SNV A567T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.902 190830 chr19 49658345 49658345 G A rs117942355 HRC Synonymous SNV S50S 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 7.48 190831 chr5 102894719 102894719 C G rs763686043 NUDT12 Nonsynonymous SNV E201D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.962 190832 chr7 37989949 37989949 C T rs139510957 EPDR1 Nonsynonymous SNV T148M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 190833 chr7 38431470 38431470 G A rs142938499 AMPH Nonsynonymous SNV T544M 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Likely benign 9.996 190834 chrX 103498914 103498914 G T ESX1 Nonsynonymous SNV R143S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 190835 chr19 51650022 51650022 C T SIGLEC7 Nonsynonymous SNV P254S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.687 190836 chr17 2234358 2234358 C T TSR1 Stop gain W514X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 190837 chr7 47851455 47851455 C T rs199514547 PKD1L1 Nonsynonymous SNV R2514H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 1.19 190838 chr7 47855043 47855043 G A rs368231946 PKD1L1 Synonymous SNV N2326N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.249 190839 chr17 27042270 27042270 C T RAB34 Synonymous SNV K152K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 190840 chr7 4828475 4828475 G T rs372517211 AP5Z1 Nonsynonymous SNV A378S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 190841 chr7 106509391 106509391 A G rs201887530 PIK3CG Nonsynonymous SNV Y462C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 190842 chr7 107430121 107430121 T A rs781561601 SLC26A3 Nonsynonymous SNV I195F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 190843 chrX 153044444 153044444 C T rs782240444 PLXNB3 Nonsynonymous SNV R1894C 0.003 0 0 0 3 0 0 0 0 0 0 0 35 190844 chr7 110603127 110603133 TTTTCAG - rs550790457 IMMP2L L107Gfs*30 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 190845 chr17 35346712 35346712 T G rs144208623 AATF 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 190846 chr19 54967854 54967856 GGC - rs768211405 LENG8 A497del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 190847 chr3 99569087 99569087 C T rs776850792 FILIP1L Nonsynonymous SNV R238Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 190848 chr17 36486848 36486848 C G rs201214109 GPR179 Nonsynonymous SNV E868D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.88 190849 chr7 117232389 117232389 G T rs200531709 CFTR Nonsynonymous SNV G723V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 190850 chr6 117686874 117686874 G T rs774580552 ROS1 Nonsynonymous SNV P948Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 190851 chr17 73887152 73887152 C A rs200457465 TRIM65 Nonsynonymous SNV C399F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.068 190852 chr17 37819132 37819132 C T rs151032154 STARD3 Nonsynonymous SNV R419C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 35 190853 chr19 55539072 55539072 T A rs892090 GP6 Nonsynonymous SNV R162W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 190854 chr17 38345167 38345167 C T rs775435766 RAPGEFL1 Nonsynonymous SNV R144C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 190855 chr17 38512373 38512373 G T rs376329242 RARA Synonymous SNV G331G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.337 190856 chr7 120969638 120969638 C T rs199729085 WNT16 Nonsynonymous SNV S28F 0.004 0 0 2 5 0 0.005 0 0 0 0 0 33 190857 chr17 74392804 74392804 A G rs201472411 UBE2O Synonymous SNV S738S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.363 190858 chr10 102256140 102256140 G A rs370328642 SEC31B Nonsynonymous SNV R729W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 190859 chr17 39019451 39019451 G A KRT12 Nonsynonymous SNV R414W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 190860 chr19 55994762 55994762 G C ZNF628 Synonymous SNV P734P 0 0.005 0 0 0 2 0 0 0 0 0 0 9 190861 chr19 55995560 55995560 C G ZNF628 Synonymous SNV L1000L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 190862 chr7 129986357 129986357 C T CPA5 Nonsynonymous SNV P11S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.794 190863 chr7 128457871 128457871 C T rs974702629 CCDC136 Synonymous SNV I383I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.45 190864 chr7 128485168 128485168 A T rs759597112 FLNC Nonsynonymous SNV S1217C 0.006 0 0 0 7 0 0 0 0 0 0 0 Uncertain significance 23.9 190865 chr7 128619140 128619140 C T rs766916784 TNPO3 Nonsynonymous SNV R589Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 190866 chr7 133943037 133943037 T C rs61753515 LRGUK Nonsynonymous SNV C743R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 190867 chr7 129818312 129818312 C T rs755773337 TMEM209 Synonymous SNV P391P 0.006 0 0 0 7 0 0 0 0 0 0 0 18.64 190868 chr7 133943152 133943152 G A rs962001273 LRGUK Nonsynonymous SNV R781Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.492 190869 chr7 135418933 135418933 G T rs142035177 FAM180A Synonymous SNV I104I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.005 190870 chr6 150141787 150141787 G A rs144280147 LRP11 Synonymous SNV L467L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 10.46 190871 chr5 149360420 149360420 G A rs750331459 SLC26A2 Nonsynonymous SNV G422S 0 0.003 0 0 0 1 0 0 0 0 0 0 28 190872 chr5 149576381 149576381 C T rs771538485 SLC6A7 Nonsynonymous SNV A107V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 190873 chr7 141921494 141921494 A G MGAM2 Nonsynonymous SNV T2395A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.098 190874 chr17 42328557 42328557 C T rs202243808 SLC4A1 Synonymous SNV P875P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 190875 chr17 42978926 42978926 G A rs150876063 CCDC103 Nonsynonymous SNV R61Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.02 190876 chr7 97944902 97944902 C T rs748817830 BAIAP2L1 Nonsynonymous SNV R170H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 190877 chr4 138450865 138450865 C T rs767731660 PCDH18 Nonsynonymous SNV R793Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26 190878 chr7 99707634 99707634 C T rs779666748 TAF6 Synonymous SNV L444L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.44 190879 chr7 148701126 148701126 G A rs200513472 PDIA4 Synonymous SNV N567N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.265 190880 chr7 148876331 148876331 G A rs776172764 ZNF398 Nonsynonymous SNV R456H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 190881 chr4 151023673 151023673 C A rs183714103 DCLK2 Synonymous SNV V155V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.39 190882 chr20 947888 947888 A G rs574845619 RSPO4 Nonsynonymous SNV L113S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.8 190883 chr17 46679542 46679542 A G rs540245263 HOXB-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 190884 chr17 4701312 4701312 A T rs11552525 PSMB6 Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.058 190885 chr7 1498850 1498850 G C rs200238981 MICALL2 Nonsynonymous SNV A38G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 190886 chr8 10468581 10468581 C T rs201640796 RP1L1 Synonymous SNV A1009A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.1 190887 chr17 47679304 47679304 G A rs142247620 SPOP Synonymous SNV N301N 0 0.008 0.01 0 0 3 0 3 0 0 0 0 11 190888 chr20 2413246 2413246 A G rs377479985 TGM6 Nonsynonymous SNV D693G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 190889 chr17 48542667 48542667 G A rs148646321 CHAD Nonsynonymous SNV R358C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 190890 chr7 148495742 148495742 C T rs375091492 CUL1 Synonymous SNV I703I 0.009 0 0 1 10 0 0.003 0 0 0 0 0 20.3 190891 chr20 3677236 3677236 G A rs767414647 SIGLEC1 Stop gain R894X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 190892 chr7 151875035 151875035 A C rs771796740 KMT2C Synonymous SNV P2501P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.101 190893 chr7 1520529 1520529 G A rs573774369 INTS1 Synonymous SNV G1297G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 190894 chr7 1523722 1523722 C T rs369814462 INTS1 Nonsynonymous SNV V1116M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 190895 chr20 4850659 4850659 G A rs369767495 SLC23A2 Synonymous SNV I381I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.276 190896 chr20 5903077 5903077 A G rs766836438 CHGB Nonsynonymous SNV H96R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 190897 chr17 56389516 56389516 C T rs144106922 TSPOAP1 Nonsynonymous SNV R829Q 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 24.2 190898 chr17 56389823 56389823 C T rs146622872 TSPOAP1 Nonsynonymous SNV E727K 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 20.8 190899 chr17 59544964 59544964 G C rs747092422 TBX4 Synonymous SNV L165L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.023 190900 chr17 59760836 59760836 T C rs761405340 BRIP1 Nonsynonymous SNV I1191V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.008 190901 chr7 155755787 155755787 C T LOC389602 Synonymous SNV P88P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.335 190902 chr17 61554500 61554500 G C rs1110991 ACE Synonymous SNV P15P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.83 190903 chr17 61562654 61562654 C G rs147429960 ACE Nonsynonymous SNV S86C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 190904 chr17 63204111 63204111 A C RGS9 Nonsynonymous SNV E422D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 190905 chr20 24524082 24524082 G A rs140823969 SYNDIG1 Nonsynonymous SNV E117K 0 0.003 0 0 0 1 0 0 0 0 0 0 32 190906 chr18 43417607 43417607 G A SIGLEC15 Stop gain W81X 0.004 0.003 0 0 5 1 0 0 0 0 0 0 37 190907 chr20 33855093 33855093 C T rs143339096 MMP24 Synonymous SNV H355H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.58 190908 chr20 34312509 34312509 T C RBM39 Nonsynonymous SNV I202V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 190909 chr20 34505523 34505523 A G PHF20 Nonsynonymous SNV Y648C 0 0.003 0 0 0 1 0 0 0 0 0 0 24 190910 chr5 38964930 38964930 A G rs61734282 RICTOR Nonsynonymous SNV M455T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.41 190911 chr17 7216381 7216381 G C rs139574677 GPS2 Synonymous SNV P289P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.789 190912 chr17 7216606 7216606 G A GPS2 Synonymous SNV F243F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 190913 chr8 144660432 144660432 G A NAPRT Synonymous SNV D19D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 190914 chr17 72308195 72308195 G T rs772788448 DNAI2 Nonsynonymous SNV E504D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.4 190915 chr17 72348235 72348235 T C rs755970349 KIF19 Nonsynonymous SNV L606P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 190916 chr7 31692409 31692409 C G rs34177136 ITPRID1 Nonsynonymous SNV P1034R 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 1.971 190917 chr6 35466133 35466133 T C rs371431040 TULP1 Nonsynonymous SNV S481G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 190918 chr18 60052230 60052230 C T rs985196653 TNFRSF11A Nonsynonymous SNV S288L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 190919 chr4 38933104 38933104 G T rs145471957 FAM114A1 Nonsynonymous SNV E191D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.058 190920 chr20 47887175 47887175 G A ZNFX1 Nonsynonymous SNV L392F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 190921 chr5 55250787 55250787 G C rs140433866 IL6ST Nonsynonymous SNV P102R 0.008 0.013 0.014 2 9 5 0.005 4 0 0 0 0 26.2 190922 chr8 145139471 145139471 T C rs183427586 GPAA1 Synonymous SNV N323N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.704 190923 chr10 50953885 50953885 C T rs372225129 OGDHL Nonsynonymous SNV E270K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 190924 chr8 145163460 145163460 G A WDR97 Nonsynonymous SNV G164D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.59 190925 chr17 74395691 74395691 G C UBE2O Nonsynonymous SNV D489E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 190926 chr4 48581258 48581258 T C rs188966880 FRYL Nonsynonymous SNV T754A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.087 190927 chr20 56136640 56136640 G C PCK1 Nonsynonymous SNV G58A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 190928 chr20 57769680 57769680 G A rs776662955 ZNF831 Synonymous SNV A1202A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.44 190929 chr5 72183959 72183959 A G rs564000608 TNPO1 Nonsynonymous SNV Q403R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 190930 chr17 76200952 76200952 G A rs746788138 AFMID Synonymous SNV A146A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 190931 chr17 76528720 76528720 G T rs61738715 DNAH17 Synonymous SNV S986S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.496 190932 chr17 76528799 76528799 G C rs201593974 DNAH17 Nonsynonymous SNV T960R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.792 190933 chr20 61443771 61443771 C T OGFR Synonymous SNV R268R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.263 190934 chr4 68383937 68383937 C T rs201103062 CENPC Nonsynonymous SNV R256Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 14.38 190935 chr7 56088834 56088834 C G rs145408555 PSPH Synonymous SNV T24T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 7.952 190936 chr4 7043247 7043247 T C rs755950476 CCDC96 Synonymous SNV L473L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 190937 chr19 1510934 1510934 C T rs192665643 ADAMTSL5 Synonymous SNV S3S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.55 190938 chr8 23153586 23153586 T C rs779908563 R3HCC1 Synonymous SNV A433A 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 3.083 190939 chr10 75551666 75551666 G C rs757493706 ZSWIM8 Nonsynonymous SNV E457Q 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 22.5 190940 chr7 73803518 73803518 C G rs148589580 CLIP2 Synonymous SNV T848T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.66 190941 chr21 19629016 19629016 C T rs61739664 CHODL Synonymous SNV P71P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.861 190942 chr21 22838975 22838975 G A NCAM2 Nonsynonymous SNV R426K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.43 190943 chr17 8076897 8076897 A C rs201690858 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 190944 chr7 82583769 82583769 G A rs377569458 PCLO Nonsynonymous SNV S2167L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 190945 chr7 98985845 98985845 G C rs773335954 ARPC1B Nonsynonymous SNV R118P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 190946 chr21 32931685 32931685 C A LOC150051 Nonsynonymous SNV P38T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.319 190947 chr6 90422360 90422360 C T rs62417304 MDN1 Nonsynonymous SNV R2455Q 0 0.005 0.007 0 0 2 0 2 0 0 0 0 23 190948 chr8 56435952 56435952 C T rs144592369 XKR4 Synonymous SNV I373I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.649 190949 chr7 94928378 94928378 T C PON1 Nonsynonymous SNV K316E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.988 190950 chr8 105105842 105105842 A G rs748285884 RIMS2 Synonymous SNV S996S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 190951 chr8 105160944 105160944 A T rs764259234 RIMS2 Nonsynonymous SNV S1043C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 190952 chr21 40834423 40834423 - A rs776120776 SH3BGR, WRB-SH3BGR Frameshift insertion P11Tfs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 190953 chr7 98559049 98559049 G A rs766810962 TRRAP Nonsynonymous SNV V2194I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.7 190954 chr18 2554721 2554721 G A rs925707427 METTL4 Nonsynonymous SNV P259L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 190955 chr7 98805047 98805047 T C rs571301441 KPNA7 Nonsynonymous SNV K15E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25 190956 chr8 68864727 68864727 A G PREX2 Nonsynonymous SNV K33R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 190957 chr18 30349756 30349756 C A KLHL14 Nonsynonymous SNV A267S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 190958 chr5 112419832 112419832 C T rs146838176 MCC Nonsynonymous SNV R344Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 190959 chr8 125074272 125074272 C T rs779747501 FER1L6 Synonymous SNV H1109H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.578 190960 chr8 106815748 106815748 A G rs369522665 ZFPM2 Synonymous SNV A1093A 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.035 190961 chr5 115394492 115394492 A T rs756291811 ARL14EPL Stop gain K103X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 42 190962 chr8 130762324 130762324 A G rs35085916 GSDMC Synonymous SNV G375G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.044 190963 chr5 125807976 125807976 C T rs202196656 GRAMD2B Nonsynonymous SNV T17M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 190964 chr5 130846087 130846087 C T rs201006948 RAPGEF6 Nonsynonymous SNV R242Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 190965 chr9 100249611 100249611 G T TDRD7 Nonsynonymous SNV A951S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 190966 chr2 24929521 24929521 C T NCOA1 Synonymous SNV I394I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.55 190967 chr6 151672216 151672216 C T rs143721071 AKAP12 Nonsynonymous SNV A792V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.452 190968 chr18 57133987 57133987 T C rs376156676 CCBE1 Synonymous SNV K179K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.46 190969 chr6 151672914 151672914 A G rs200925112 AKAP12 Nonsynonymous SNV I1025V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 190970 chr6 151815290 151815290 C T rs61730720 CCDC170 Synonymous SNV I9I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.61 190971 chr5 138210021 138210021 C T rs201299132 LRRTM2 Nonsynonymous SNV E77K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.02 190972 chr22 21989660 21989662 CTC - CCDC116 S438del 0 0.003 0 0 0 1 0 0 0 0 0 0 190973 chr22 21989666 21989677 CCAGAGGGCCCA - CCDC116 S438_Q442delinsR 0 0.003 0 0 0 1 0 0 0 0 0 0 190974 chr22 22869539 22869539 T C rs769923749 ZNF280A Nonsynonymous SNV D139G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.47 190975 chr8 144621370 144621370 C T rs139762891 ZC3H3 Nonsynonymous SNV R56H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 190976 chr8 144681563 144681563 C T rs201733245 TIGD5 Nonsynonymous SNV P497L 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 6.899 190977 chr8 144407529 144407529 T C TOP1MT Nonsynonymous SNV I122V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23 190978 chr18 74240749 74240749 G A rs141581695 LINC00908 0 0 0.003 0 0 0 0 1 0 0 0 0 7.254 190979 chr8 144649968 144649968 C G rs13255489 MROH6 Nonsynonymous SNV A619P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 16.84 190980 chr18 77133958 77133958 C T rs140981029 ATP9B Nonsynonymous SNV A1044V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 190981 chr18 77477966 77477966 C T rs771422024 CTDP1 Synonymous SNV P670P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 190982 chr11 117395551 117395551 C T rs767110532 DSCAML1 Synonymous SNV S302S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.55 190983 chr6 165711553 165711553 G A rs148261003 C6orf118 Nonsynonymous SNV P325L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 190984 chr19 10220351 10220351 C T rs147459098 PPAN, PPAN-P2RY11 Synonymous SNV N133N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.083 190985 chr5 146258293 146258293 - GCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSS 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 190986 chr22 31008901 31008901 C T rs752901101 TCN2 Nonsynonymous SNV P100L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.4 190987 chr6 168708355 168708355 G A rs377529965 DACT2 Synonymous SNV F524F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.683 190988 chr19 1055908 1055908 T - rs538591288 ABCA7 L1403Rfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 190989 chr8 145746788 145746788 G A rs138625428 LRRC14 Nonsynonymous SNV A470T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.349 190990 chr19 10782212 10782212 - C ILF3 0 0 0.003 0 0 0 0 1 0 0 0 0 190991 chr19 10782213 10782213 - GTAACAGAAGACAAGTACGAAATACTGCAATCTGTCGACGATGCTGCGATTGTGATAAAAAACACAA ILF3 0 0 0.003 0 0 0 0 1 0 0 0 0 190992 chr19 10789868 10789868 - CCTCTCGAGCTCCTGTGTGAGAAATCCATTGGCACGGCCAACAGACCGATGGGTGCTGGCGAGGCCCTGC ILF3 Frameshift insertion R273Pfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 190993 chr19 10791806 10791893 GGTAAGCCTGCGGCGGTTGCCTGATGGCTGGGGCTCCAGGAAGAGTCACCATCTGCATCTCCCAGCCATGCCCTGGTCTCTCCTTGCA - ILF3 V357Ffs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 190994 chr19 10793290 10793290 C G rs190815573 ILF3 Synonymous SNV T486T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.068 190995 chr19 10793937 10794039 AGGTGCGCAGCCTGAAGCTGCCTGCTGGGGCAGTCCCATGGGGAGGCCTGGGGTCCCCCTGCCCCTGGAGGGAGGCACTGAGTCATCTCCATCTGCACTTTCC - ILF3 E562Gfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 190996 chr19 10794217 10794309 AGGTGAGCAGTGGCCCTTGAACCTCCTTGCCCAGGCATGGGTTCTTCTGCAATGTGAGCACGAAGGGAATGTCACTTCCCTGTGTTCTCTTCT - ILF3 K621Tfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 190997 chr6 170871100 170871101 GC - rs751986065 TBP Q73Afs*84 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 190998 chr6 170871103 170871103 G - rs757770542 TBP Q73Hfs*51 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 190999 chr2 55470216 55470216 C A MTIF2 Nonsynonymous SNV G522V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 191000 chr8 17942273 17942273 C T rs144306858 ASAH1 Nonsynonymous SNV G13E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 191001 chr2 62733238 62733238 C T rs368040293 TMEM17 Synonymous SNV Q9Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 191002 chr19 14043911 14043911 C T rs999002090 PODNL1 Synonymous SNV P291P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 191003 chr22 37912057 37912057 T C rs758236907 CARD10 Nonsynonymous SNV M208V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 191004 chr19 14720934 14720934 A G rs760662849 CLEC17A Nonsynonymous SNV K355E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.219 191005 chr22 38084351 38084351 G A rs372968525 NOL12 Synonymous SNV E74E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 191006 chr22 38323451 38323451 C T rs148951911 MICALL1 Nonsynonymous SNV P500L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 191007 chr9 130565288 130565288 C A rs866970380 FPGS Synonymous SNV R29R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.51 191008 chr19 16137070 16137070 T G rs74759378 LINC00661 0 0 0.007 0 0 0 0 2 0 0 0 0 2.68 191009 chr19 17375083 17375083 C T rs899745421 USHBP1 Nonsynonymous SNV R9Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 191010 chr9 134514085 134514085 T C RAPGEF1 Synonymous SNV S196S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.622 191011 chr2 85991128 85991128 A G rs113869283 ATOH8 Synonymous SNV S261S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.01 191012 chr22 45782894 45782894 A G SMC1B Synonymous SNV L588L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.16 191013 chr6 33648217 33648217 C A ITPR3 Nonsynonymous SNV L1446M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 191014 chr11 18536384 18536384 A G TSG101 Synonymous SNV N66N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.201 191015 chr22 50893514 50893514 C T rs200471909 SBF1 Nonsynonymous SNV G1513S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.4 191016 chr19 19764814 19764814 C T rs755379513 ATP13A1 Synonymous SNV A651A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.88 191017 chr6 38913335 38913335 C T rs146505940 DNAH8 Nonsynonymous SNV L3817F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 191018 chr11 20529936 20529936 A C rs201557233 PRMT3 Nonsynonymous SNV T463P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.07 191019 chr3 108351912 108351912 G A DZIP3 Nonsynonymous SNV S270N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.873 191020 chr8 57079936 57079936 G A rs763278826 PLAG1 Synonymous SNV C41C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.755 191021 chr8 66992648 66992648 T G DNAJC5B Nonsynonymous SNV Y124D 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.9 191022 chr3 113022811 113022811 G A rs1010372271 CFAP44 Nonsynonymous SNV R1677C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 31 191023 chrX 24197451 24197451 C T ZFX Synonymous SNV D70D 0.001 0.005 0 0 1 2 0 0 0 1 0 0 13.15 191024 chr9 140128909 140128909 G A rs368525218 SLC34A3 Nonsynonymous SNV V379I 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.119 191025 chr9 140130713 140130713 T C rs953139629 SLC34A3 Nonsynonymous SNV W549R 0 0.005 0 0 0 2 0 0 0 0 0 0 24.8 191026 chr5 40747065 40747065 G A rs376691426 TTC33 Nonsynonymous SNV S19F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 191027 chr8 75737736 75737736 G A rs554075984 PI15 Synonymous SNV P84P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.901 191028 chr7 44805860 44805860 C G rs567025862 ZMIZ2 Synonymous SNV P754P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.54 191029 chr6 5000051 5000051 A G RPP40 Nonsynonymous SNV M119T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.041 191030 chr19 38875055 38875055 G T GGN Nonsynonymous SNV N652K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.5 191031 chr9 100076945 100076945 C A rs765412824 CCDC180 Synonymous SNV R256R 0.003 0 0 0 3 0 0 0 0 0 0 0 15.12 191032 chr11 47267110 47267110 G A rs550354036 ACP2 Nonsynonymous SNV P123L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 191033 chrX 118223447 118223447 G A rs41304502 KIAA1210 Synonymous SNV V582V 0.001 0.008 0 0 1 3 0 0 0 1 0 0 0.324 191034 chr6 7231584 7231584 C G rs1027892162 RREB1 Synonymous SNV T1084T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.826 191035 chr5 70808150 70808150 T G BDP1 Nonsynonymous SNV F1381C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 191036 chrX 139586495 139586500 GCGGCC - rs765453930 SOX3 A247_A248del 0.003 0.005 0 0 4 2 0 0 1 1 0 0 191037 chr9 114140902 114140902 T G rs751711973 ECPAS Nonsynonymous SNV Q1304H 0.002 0 0 0 2 0 0 0 0 0 0 0 25 191038 chr19 40581437 40581437 G A rs8107210 ZNF780A Synonymous SNV P304P 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 11.42 191039 chr6 74304930 74304930 A G SLC17A5 Nonsynonymous SNV V453A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.744 191040 chr9 111979419 111979419 C T rs200380246 EPB41L4B Synonymous SNV P472P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 16.32 191041 chr19 41019147 41019147 G T SPTBN4 Synonymous SNV A817A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 191042 chr9 115652651 115652651 T G SLC46A2 Nonsynonymous SNV H104P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 191043 chr9 4564428 4564428 G A rs149969951 SLC1A1 Nonsynonymous SNV S137N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.16 191044 chr9 4583134 4583134 C T rs142648085 SLC1A1 Synonymous SNV A430A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.73 191045 chr9 116930485 116930485 G T rs199729771 COL27A1 Nonsynonymous SNV S217I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 191046 chr9 113449505 113449505 G A rs751133130 MUSK Synonymous SNV V105V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.39 191047 chr1 887386 887386 C G NOC2L Nonsynonymous SNV C442S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 191048 chr9 119488153 119488153 G A rs142078502 ASTN2 Synonymous SNV G850G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 191049 chr1 1479279 1479279 C A SSU72 Synonymous SNV G151G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 191050 chr9 124083642 124083642 C T rs116185403 GSN Nonsynonymous SNV R481C 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 Benign 28.1 191051 chr7 82455923 82455923 G C rs370303452 PCLO Synonymous SNV S4799S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.46 191052 chr6 99930627 99930627 A G rs17850034 USP45, USP45 Nonsynonymous SNV W283R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 24.6 191053 chr7 100228511 100228511 C G TFR2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely pathogenic 23.8 191054 chr5 82786003 82786003 C T rs201466502 VCAN Nonsynonymous SNV P53S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.2 191055 chr9 94984945 94984945 A G rs201071417 IARS Nonsynonymous SNV M1188T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.69 191056 chr9 95081581 95081581 G A rs201932915 NOL8 Synonymous SNV N113N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.919 191057 chr1 2523431 2523431 G T rs139941953 MMEL1 Nonsynonymous SNV D701E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.429 191058 chr9 95263245 95263245 C T rs143452414 ECM2 Synonymous SNV G543G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.58 191059 chr19 44792406 44792406 G A rs749000889 ZNF235 Synonymous SNV C394C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.158 191060 chr19 45992112 45992112 G A RTN2 Synonymous SNV S118S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 191061 chr19 46417575 46417575 C T NANOS2 Nonsynonymous SNV R126H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 191062 chr9 130507359 130507359 G T rs758201513 SH2D3C Synonymous SNV A270A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.13 191063 chr1 10357010 10357010 A G KIF1B Synonymous SNV Q593Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.315 191064 chr7 99091152 99091152 T C rs202201067 ZNF394 Synonymous SNV X562X 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.075 191065 chr19 47551675 47551675 C T rs778932403 TMEM160 Synonymous SNV A66A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 191066 chr9 132084341 132084341 T C rs762601442 C9orf106 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.67 191067 chr9 132569551 132569551 C T rs149533855 TOR1B Nonsynonymous SNV P184S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.3 191068 chr6 117730797 117730797 C T rs55736087 ROS1 Synonymous SNV S79S 0.007 0 0 3 8 0 0.008 0 1 0 0 0 Benign 9.476 191069 chr9 135545557 135545557 C T DDX31 Nonsynonymous SNV G27D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 191070 chr1 12336077 12336077 C T VPS13D Nonsynonymous SNV T811I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 191071 chr7 100682571 100682571 T C rs142739196 MUC17 Nonsynonymous SNV I2625T 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.001 191072 chr7 100682589 100682589 T G rs147386963 MUC17 Nonsynonymous SNV V2631G 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 0.124 191073 chr7 100682606 100682607 AG - rs770844876 MUC17 S2637Yfs*12 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 191074 chr7 100682611 100682611 - TG rs776424494 MUC17 Frameshift insertion L2639Cfs*27 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 191075 chr6 123118086 123118086 G T rs60203827 SMPDL3A Synonymous SNV A17A 0.005 0 0 2 6 0 0.005 0 0 0 0 0 13.23 191076 chr1 15905464 15905464 G A AGMAT Nonsynonymous SNV P204S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 191077 chrX 152773852 152773852 C T BGN Synonymous SNV F352F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.46 191078 chr9 138662925 138662925 C T rs558095270 KCNT1 Synonymous SNV S619S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.093 191079 chr9 136289598 136289598 C T rs142107133 ADAMTS13 Synonymous SNV I110I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.7 191080 chr1 16263945 16263945 C T SPEN Synonymous SNV S3438S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 191081 chr19 50333443 50333443 C A rs765215168 MED25 Nonsynonymous SNV Q263K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 191082 chr9 139837083 139837083 G C rs201987845 FBXW5 Synonymous SNV T197T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.956 191083 chr1 17419003 17419003 G T rs757048996 PADI2 Synonymous SNV I185I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 191084 chr9 140008335 140008335 G A DPP7 Nonsynonymous SNV A156V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 191085 chr19 51297071 51297071 - GGGTGAGGTGTGGGTCTGGGA ACP4 G260_I261insEVWVWEG 0 0 0.003 0 0 0 0 1 0 0 0 0 191086 chr11 56510828 56510828 C T rs139616824 OR9G4 Nonsynonymous SNV A154T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.94 191087 chr9 139137636 139137636 C T rs782533362 QSOX2 Nonsynonymous SNV G5E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 17.11 191088 chr19 51527998 51527998 G A rs201211217 KLK11 Synonymous SNV H31H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.43 191089 chr1 19615042 19615042 G A rs118060916 AKR7A3 Synonymous SNV S54S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 191090 chr9 139835411 139835411 A G rs143959515 FBXW5 Nonsynonymous SNV F557S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 191091 chrX 37969589 37969589 A G SYTL5 Nonsynonymous SNV T506A 0.004 0.008 0 0 5 3 0 0 1 0 0 0 17.22 191092 chr8 134072350 134072350 G A rs142984250 SLA Nonsynonymous SNV P59L 0 0.01 0.01 1 0 4 0.003 3 0 0 0 0 16.57 191093 chr9 15578881 15578881 G A rs371519443 CCDC171 Nonsynonymous SNV R71Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 191094 chr7 132174153 132174153 G A rs114402425 PLXNA4 Synonymous SNV P423P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.505 191095 chr8 136619227 136619227 T C KHDRBS3 Synonymous SNV Y279Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.615 191096 chr9 140174395 140174395 C T rs750895437 TOR4A Synonymous SNV A418A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.439 191097 chr19 53854291 53854291 T A rs768047689 ZNF845 Synonymous SNV G121G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.034 191098 chr9 33036574 33036576 GAG - DNAJA1 G98del 0.001 0 0 0 1 0 0 0 0 0 0 0 191099 chrX 69519040 69519040 G A KIF4A Synonymous SNV K168K 0 0.003 0 0 0 1 0 0 0 0 0 0 12 191100 chr9 36233938 36233938 G - GNE R211Vfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 191101 chr9 36840617 36840617 A G rs779803052 PAX5 Nonsynonymous SNV I266T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.121 191102 chr11 61543893 61543893 C T MYRF Synonymous SNV N496N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.56 191103 chr1 26670919 26670919 C T CRYBG2 Nonsynonymous SNV E744K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.073 191104 chr8 145634482 145634482 T C CPSF1 Nonsynonymous SNV N21D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 191105 chr1 29185670 29185670 T G rs765779044 OPRD1 Synonymous SNV V144V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.308 191106 chr3 40503529 40503529 - CTGCTGCTG RPL14 A159_K160insAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 191107 chr9 36117073 36117073 C T RECK Stop gain Q718X 0.004 0 0 1 5 0 0.003 0 0 0 0 0 41 191108 chr10 105233332 105233332 T A CALHM3 Stop gain K225X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 38 191109 chr1 33402699 33402699 G C RNF19B Nonsynonymous SNV P635R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.666 191110 chr6 24785904 24785904 G A rs777983756 GMNN Synonymous SNV L169L 0.003 0 0 0 3 0 0 0 0 0 0 0 1.894 191111 chr10 111876107 111876107 C G ADD3 Nonsynonymous SNV A142G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 191112 chr1 36785687 36785687 C T rs139950139 SH3D21 Synonymous SNV L364L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.243 191113 chr9 6645355 6645355 C A GLDC Nonsynonymous SNV A49S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.56 191114 chr1 38033291 38033291 C T rs34593152 GNL2 Nonsynonymous SNV A493T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 11.98 191115 chr1 39826491 39826491 C T rs138693822 MACF1 Nonsynonymous SNV L2029F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 191116 chr1 40092603 40092603 G A rs140829574 HEYL Nonsynonymous SNV A188V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 191117 chr1 40887666 40887666 G A SMAP2 Nonsynonymous SNV G365R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 191118 chrX 100748194 100748194 A G ARMCX4 Nonsynonymous SNV N1540D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.561 191119 chr1 42046214 42046214 C G HIVEP3 Nonsynonymous SNV E1419Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 191120 chrX 10535513 10535513 G A rs140708189 MID1 Synonymous SNV C25C 0.005 0 0 0 6 0 0 0 2 0 0 0 Benign 6.589 191121 chr9 85615159 85615159 C T rs149786197 RASEF Nonsynonymous SNV A550T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 33 191122 chrX 108652307 108652307 G A rs758390351 GUCY2F Stop gain R628X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 191123 chr19 622584 622584 C G POLRMT Nonsynonymous SNV E542Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 191124 chr19 6416783 6416783 G A rs201192475 KHSRP Synonymous SNV I431I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 191125 chr1 43917893 43917893 C G rs950614254 HYI Nonsynonymous SNV A137P 0.002 0 0 0 2 0 0 0 0 0 0 0 31 191126 chr9 95237030 95237030 - TCATCATCA ASPN D50_E51insDDD 0.001 0.003 0 0 1 1 0 0 0 0 0 0 191127 chr20 1212260 1212260 T C rs201688927 RAD21L1 Nonsynonymous SNV M122T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 13.44 191128 chrX 119581846 119581846 C T rs201030806 LAMP2 Synonymous SNV V197V 0.003 0 0 0 3 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 8.659 191129 chr10 127462644 127462644 G - MMP21 L152Cfs*25 0 0.003 0 0 0 1 0 0 0 0 0 0 191130 chrX 132473325 132473325 G C rs376026510 GPC4 Nonsynonymous SNV Q69E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 191131 chr6 42985615 42985615 G A rs143719397 KLHDC3 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 191132 chr6 43194067 43194067 T G DNPH1 Nonsynonymous SNV D88A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 191133 chr1 52237772 52237772 C T rs149951799 OSBPL9 Synonymous SNV H145H 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 13.05 191134 chr11 69063454 69063454 G A rs146387225 MYEOV Synonymous SNV S121S 0.003 0.008 0.003 4 3 3 0.01 1 0 0 0 0 6.519 191135 chr6 44982588 44982588 T A rs568863633 SUPT3H Nonsynonymous SNV D19V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 32 191136 chr1 55078294 55078294 G A rs779876794 FAM151A Nonsynonymous SNV T222M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 191137 chr8 70533481 70533481 C T rs139600896 SULF1 Nonsynonymous SNV T530I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.4 191138 chr1 60377885 60377885 G A rs56307989 CYP2J2 Nonsynonymous SNV R158C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 191139 chr1 63119694 63119694 C T rs570514826 DOCK7 Nonsynonymous SNV R94Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 191140 chr7 48556444 48556444 G A ABCA13 Nonsynonymous SNV M4588I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 191141 chr8 8869249 8869249 A T rs762870541 ERI1 Nonsynonymous SNV H84L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 191142 chr1 103481285 103481285 C T rs149558726 COL11A1 Nonsynonymous SNV R360H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 191143 chr1 68903875 68903875 C T RPE65 Nonsynonymous SNV D375N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 191144 chrX 53457913 53457913 C G RIBC1 Nonsynonymous SNV Q373E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 191145 chr1 109377579 109377579 C T rs751500049 AKNAD1 Nonsynonymous SNV E546K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.128 191146 chr11 8190463 8190463 T C rs145965152 RIC3 Nonsynonymous SNV K25R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.9 191147 chr1 75072554 75072554 G A rs143249130 ERICH3 Nonsynonymous SNV P407L 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 22.7 191148 chr1 86048526 86048526 C G rs148330006 CCN1 Nonsynonymous SNV S316C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 24.9 191149 chr7 75174042 75174042 C T HIP1 Nonsynonymous SNV C855Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 191150 chr9 107574930 107574930 T C rs758753623 ABCA1 Synonymous SNV T1325T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 3.538 191151 chr9 107583748 107583748 G A rs35561837 ABCA1 Synonymous SNV T956T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.88 191152 chr20 36842004 36842004 C T rs772261810 KIAA1755 Nonsynonymous SNV A666T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.658 191153 chr6 88854850 88854850 G A CNR1 Synonymous SNV F48F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 191154 chr1 112303415 112303415 G C rs139212011 DDX20 Nonsynonymous SNV K256N 0 0 0.007 0 0 0 0 2 0 0 0 0 17.56 191155 chr9 107620843 107620843 C T rs555803243 ABCA1 Nonsynonymous SNV R227Q 0 0.005 0 0 0 2 0 0 0 0 0 0 0.018 191156 chr10 102891771 102891771 C T rs369095303 TLX1 Nonsynonymous SNV P158L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 191157 chrX 7243431 7243431 G A rs148600708 STS Nonsynonymous SNV R378H 0.003 0.003 0.007 1 4 1 0.003 2 0 0 1 0 23.5 191158 chr1 93581086 93581086 A T MTF2 Synonymous SNV T79T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 191159 chr1 119427839 119427839 C T rs144291418 TBX15 Nonsynonymous SNV R442K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 191160 chr9 116750833 116750833 G A ZNF618 Nonsynonymous SNV G104S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 191161 chr10 101458589 101458589 G - rs879255416 ENTPD7 P438Qfs*18 0.002 0 0 0 2 0 0 0 0 0 0 0 191162 chr10 113931945 113931945 G A rs141210498 GPAM Synonymous SNV I263I 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 13.84 191163 chr10 102822575 102822575 T G rs11547671 KAZALD1 Nonsynonymous SNV C76G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 191164 chr10 116046264 116046264 C T rs779462628 VWA2 Nonsynonymous SNV R522W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 191165 chr10 105372696 105372696 G A rs117568095 SH3PXD2A Nonsynonymous SNV A272V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.71 191166 chr12 109535516 109535516 T C rs747684225 UNG Nonsynonymous SNV F11S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 24.8 191167 chr1 110883644 110883644 G A rs61740988 RBM15 Synonymous SNV Q539Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.548 191168 chr20 57244359 57244359 T A STX16 Nonsynonymous SNV C132S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 191169 chr20 60498692 60498692 G C rs148441133 CDH4 Nonsynonymous SNV V483L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.94 191170 chr12 110572765 110572765 A G IFT81 Nonsynonymous SNV M178V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 191171 chr1 152883932 152883932 A G IVL Synonymous SNV Q553Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 191172 chr10 7409832 7409832 C T rs759290525 SFMBT2 Nonsynonymous SNV S72N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 191173 chr1 113235536 113235536 G A MOV10 Synonymous SNV R375R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.93 191174 chr12 112082121 112082121 C T rs145317226 BRAP Nonsynonymous SNV R554Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 191175 chr1 153747981 153747981 C T rs145619769 SLC27A3 Nonsynonymous SNV A3V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.7 191176 chr10 116331054 116331054 - CTG rs573606552 ABLIM1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 191177 chr1 117119951 117119951 G A rs781436629 IGSF3 Nonsynonymous SNV P1190S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 191178 chr1 118065540 118065540 A G MAN1A2 Synonymous SNV L629L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.639 191179 chr10 118236328 118236328 A G PNLIPRP3 Nonsynonymous SNV Y446C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 191180 chr1 155150592 155150592 C T rs372574574 TRIM46 Nonsynonymous SNV R216W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 191181 chr10 118355739 118355739 - C rs781856147 PNLIPRP1 Frameshift insertion S163Ffs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 191182 chr10 119029643 119029643 C T rs140884646 SLC18A2 Synonymous SNV S416S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.04 191183 chr1 119964831 119964831 T C rs35887327 HSD3B2 Nonsynonymous SNV L236S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.277 191184 chr10 120863708 120863708 C G rs75277104 DENND10 Nonsynonymous SNV I18M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 191185 chr1 156035716 156035716 G A rs187413267 RAB25 Nonsynonymous SNV E20K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 191186 chr7 103029860 103029860 C T rs144049745 SLC26A5 Synonymous SNV S441S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 191187 chr1 15655944 15655944 G A rs56017972 FHAD1 Nonsynonymous SNV V605M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.616 191188 chr1 150390142 150390142 T C rs374088806 RPRD2 Synonymous SNV N92N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.728 191189 chr1 150530531 150530531 C G rs56055939 ADAMTSL4 Nonsynonymous SNV P763R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.43 191190 chr1 150550831 150550831 A G MCL1 Synonymous SNV A275A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.69 191191 chr10 125506411 125506411 A C rs779902262 CPXM2 Nonsynonymous SNV C714G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 191192 chr1 151377648 151377648 G A rs149655055 POGZ Nonsynonymous SNV A1193V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.1 191193 chr1 152084867 152084867 C T TCHH Nonsynonymous SNV E276K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 191194 chr12 123476316 123476316 G A rs774772176 PITPNM2 Nonsynonymous SNV P845L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.61 191195 chr21 33719857 33719857 C G rs568281915 URB1 Synonymous SNV A1092A 0.012 0 0 2 14 0 0.005 0 0 0 0 0 9.716 191196 chr7 123508416 123508416 A C rs527652879 HYAL4 Nonsynonymous SNV K30T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.66 191197 chr1 160136379 160136379 A C ATP1A4 Nonsynonymous SNV E370A 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 191198 chr10 13322991 13322991 A G rs143734330 PHYH Synonymous SNV N228N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.03 191199 chr7 128494600 128494600 G A rs773130088 FLNC Synonymous SNV T2254T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.14 191200 chr7 128494727 128494727 G A rs527248119 FLNC Nonsynonymous SNV G2297S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.8 191201 chr7 128494869 128494869 C A rs763377116 FLNC Synonymous SNV G2313G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.39 191202 chr1 161654693 161654693 A G rs1256287 RPL31P11 0 0 0.068 0 0 0 0 20 0 0 10 0 10.65 191203 chr1 155028652 155028652 C G rs762988666 ADAM15 Nonsynonymous SNV L291V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 191204 chr1 155920133 155920133 C T ARHGEF2 Synonymous SNV E948E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 191205 chr10 3214958 3214958 G A rs756647224 PITRM1 Nonsynonymous SNV R3C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 191206 chr10 19425587 19425587 T A rs553741144 MALRD1 Nonsynonymous SNV S430T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.366 191207 chr12 1940577 1940577 C A rs139602525 LRTM2 Nonsynonymous SNV L182M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 191208 chr1 158064605 158064605 C T KIRREL1 Nonsynonymous SNV P557S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 191209 chr10 26513551 26513551 G A rs2839673 GAD2 Nonsynonymous SNV G232E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 9.773 191210 chr9 15591401 15591401 T A rs139287491 CCDC171 Synonymous SNV T130T 0.006 0.005 0 2 7 2 0.005 0 0 0 0 0 13.24 191211 chr4 57265438 57265438 T C rs114731967 PPAT Synonymous SNV K381K 0 0 0 2 0 0 0.005 0 0 0 0 0 3.371 191212 chr1 17764826 17764826 G A rs544910613 RCC2 Nonsynonymous SNV A62V 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 18.92 191213 chr10 49444537 49444537 C T rs148563650 FRMPD2 Synonymous SNV P303P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.998 191214 chr1 178790809 178790809 C T rs150414251 RALGPS2 Synonymous SNV A150A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 191215 chr1 160064699 160064699 G A rs375694190 IGSF8 Synonymous SNV T134T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 191216 chr11 1078334 1078334 G A rs41365748 MUC2 Synonymous SNV E207E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 1.515 191217 chr11 1078629 1078629 C T rs377679500 MUC2 Synonymous SNV G279G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.59 191218 chr1 160720128 160720128 C T rs35684990 SLAMF7 Synonymous SNV L121L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 191219 chr9 33246639 33246639 C T rs145229322 SPINK4 Nonsynonymous SNV S43F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.55 191220 chr11 1082319 1082319 A C rs11827830 MUC2 Nonsynonymous SNV K592Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 22.1 191221 chr1 161196316 161196316 T C TOMM40L Synonymous SNV L13L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.44 191222 chr22 19119549 19119549 T C rs150218881 TSSK2 Nonsynonymous SNV S213P 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 191223 chr11 111368005 111368005 G A rs200909052 BTG4 Synonymous SNV C147C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.589 191224 chr9 34625800 34625800 G A rs144207435 ARID3C Synonymous SNV L110L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.79 191225 chr10 55581921 55581921 G A rs111033445 PCDH15 Synonymous SNV A1815A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.31 191226 chr12 32755110 32755110 A G rs773609461 FGD4 Synonymous SNV R100R 0.001 0.013 0 0 1 5 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.436 191227 chr8 21978269 21978269 C T rs114871775 HR Nonsynonymous SNV R857H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 11.46 191228 chr8 21978372 21978372 C T rs76547188 HR Nonsynonymous SNV G823S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 12.8 191229 chr8 21986496 21986496 G C rs73549525 HR Nonsynonymous SNV P63R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 21.4 191230 chr22 20102158 20102158 C T rs148929784 TRMT2A Nonsynonymous SNV R391Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 191231 chr8 22424595 22424595 T A rs35035475 SORBS3 Synonymous SNV G62G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.55 191232 chr8 22472950 22472950 C T rs7001453 CCAR2 Synonymous SNV A406A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.45 191233 chr12 42778746 42778746 C T rs147227639 PPHLN1 Synonymous SNV S117S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.73 191234 chr10 48388259 48388259 G A rs146045906 RBP3 Synonymous SNV A873A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.088 191235 chr4 74021418 74021418 A G rs201156501 ANKRD17 Synonymous SNV N197N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 6.736 191236 chr10 70333392 70333392 C T rs781598952 TET1 Nonsynonymous SNV L433F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 191237 chr1 196646620 196646620 C T CFH Nonsynonymous SNV P148S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 191238 chr8 25708131 25708131 C T rs17054477 EBF2 Nonsynonymous SNV G559S 0.001 0.016 0.003 3 1 6 0.008 1 0 0 0 0 22.5 191239 chr1 200973482 200973482 C T rs555895863 KIF21B Synonymous SNV S334S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 191240 chr11 119182785 119182785 C T rs149271449 MCAM Nonsynonymous SNV E374K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 191241 chr10 73572093 73572093 C A rs187068482 CDH23 Synonymous SNV T15T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.364 191242 chr1 177001827 177001827 G A ASTN1 Synonymous SNV G210G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 191243 chr7 2583517 2583517 G A rs142971567 BRAT1 Synonymous SNV H170H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.118 191244 chr1 179077981 179077981 C T rs1015886971 ABL2 Synonymous SNV R786R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 191245 chr10 64928251 64928251 A G rs372033085 JMJD1C Synonymous SNV L2274L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.519 191246 chr1 179544862 179544862 C A NPHS2 Synonymous SNV S46S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 191247 chr1 179782291 179782291 G T FAM163A Nonsynonymous SNV C20F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 191248 chr1 202956236 202956236 G A rs870094 LOC100506747 0 0 0.02 0 0 0 0 6 0 0 0 0 8.452 191249 chr1 203054853 203054853 G A rs775135850 MYOG Synonymous SNV S79S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.132 191250 chr1 180905659 180905659 C T rs369784342 KIAA1614 Nonsynonymous SNV P872S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.501 191251 chr7 2952993 2952993 C T rs369115970 CARD11 Nonsynonymous SNV V983M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.69 191252 chr22 31492777 31492777 G C rs144232849 SMTN Nonsynonymous SNV E696D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.434 191253 chr9 95782600 95782600 T A FGD3 Nonsynonymous SNV I414N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 33 191254 chr22 31529993 31529993 C T rs202068567 INPP5J Nonsynonymous SNV A435V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 191255 chr22 31536074 31536074 A T rs55984643 PLA2G3 Nonsynonymous SNV H89Q 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 0.002 191256 chr22 31737559 31737559 A G rs149405236 PATZ1 Synonymous SNV P482P 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 20.2 191257 chr1 20442878 20442878 C T rs139125782 PLA2G2D Nonsynonymous SNV G45S 0.001 0 0.014 2 1 0 0.005 4 0 0 0 0 28.2 191258 chr1 183515401 183515401 G C rs371570443 SMG7 Nonsynonymous SNV D849H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 191259 chr10 73056497 73056546 GAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGCG - UNC5B E819del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 191260 chr12 53848638 53848638 A G rs753784903 PCBP2 Synonymous SNV L18L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.49 191261 chr10 73464764 73464764 A G rs188098974 CDH23 Nonsynonymous SNV S944G 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 191262 chr1 197886989 197886989 G A rs759325564 LHX9 Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 191263 chr12 55614982 55614982 C T rs149606627 OR10A7 Synonymous SNV P58P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.33 191264 chr10 73573037 73573037 C T rs111033457 CDH23 Nonsynonymous SNV R121W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 29.4 191265 chr7 39730098 39730098 A G RALA Nonsynonymous SNV I78V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 191266 chr11 124972034 124972034 G A rs763099953 TMEM218 Nonsynonymous SNV A35V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.701 191267 chr8 72127899 72127899 G A rs727503043 EYA1 Synonymous SNV T475T 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 Likely benign 14.69 191268 chr10 75877855 75877855 T C rs147415627 VCL Synonymous SNV A1043A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign/Likely benign 5.347 191269 chr8 72967827 72967827 C T rs144498143 TRPA1 Nonsynonymous SNV R458H 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 34 191270 chr10 76788752 76788752 A G rs748058655 KAT6B Synonymous SNV K609K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.001 191271 chr12 55886263 55886263 G A rs746560398 OR6C68 Nonsynonymous SNV M34I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.261 191272 chr10 76858965 76858965 T C rs1014375806 DUSP13 Synonymous SNV G77G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.64 191273 chrX 132160749 132160749 C T rs778825409 USP26 Synonymous SNV E500E 0.002 0.003 0 0 2 1 0 0 1 0 0 0 4.122 191274 chrX 132161405 132161405 A C USP26 Nonsynonymous SNV L282V 0.002 0.003 0 0 2 1 0 0 1 0 0 0 0.004 191275 chrX 135426713 135426713 C T ADGRG4 Nonsynonymous SNV T283I 0.002 0.003 0 0 2 1 0 0 1 0 0 0 12.61 191276 chr1 201981805 201981805 C T rs35927825 ELF3 Synonymous SNV D172D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 9.507 191277 chr11 1261469 1261469 C T rs55913363 MUC5B Synonymous SNV T1278T 0 0.008 0 1 0 3 0.003 0 0 0 0 0 Benign 11.65 191278 chr10 89548819 89548819 C G ATAD1 Star tloss M1? 0.003 0 0 0 3 0 0 0 0 0 0 0 6.207 191279 chrX 148568836 148568836 T C rs782689347 IDS Nonsynonymous SNV M339V 0.002 0.003 0 0 2 1 0 0 1 0 0 0 1.907 191280 chr1 202935670 202935670 A G CYB5R1 Nonsynonymous SNV L75P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 191281 chr11 129980556 129980556 G A rs147726545 APLP2 Nonsynonymous SNV V135M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 191282 chr1 220236134 220236134 C T rs147533233 BPNT1 Nonsynonymous SNV D158N 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 191283 chr12 58207056 58207056 A T rs376165688 AVIL Nonsynonymous SNV Y98N 0 0.005 0 0 0 2 0 0 0 0 0 0 11.4 191284 chr1 22173950 22173950 A G HSPG2 Synonymous SNV S2688S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.684 191285 chr10 93221057 93221057 C A rs376090534 HECTD2 Nonsynonymous SNV H152N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 191286 chr1 205034348 205034348 C T rs147493920 CNTN2 Synonymous SNV I551I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.72 191287 chr10 95892104 95892104 T G PLCE1 Synonymous SNV T152T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.872 191288 chr1 224371065 224371065 C A rs201220123 DEGS1 Nonsynonymous SNV D9E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 191289 chr10 96291163 96291163 G T rs201483355 TBC1D12 Synonymous SNV L735L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.276 191290 chr1 224418939 224418939 T C rs144005997 NVL Nonsynonymous SNV I650V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 191291 chr1 207297622 207297622 G A rs140603272 C4BPA Nonsynonymous SNV R206H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.033 191292 chr10 99330199 99330199 C T rs774376130 UBTD1 Synonymous SNV R201R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.247 191293 chr1 209823437 209823437 G T rs200672750 LAMB3 Nonsynonymous SNV Q19K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.05 191294 chr1 212141905 212141905 C T rs199988483 INTS7 Nonsynonymous SNV A605T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 191295 chr7 72971852 72971852 C T BCL7B Synonymous SNV K19K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.614 191296 chr12 75601221 75601221 G A KCNC2 Synonymous SNV D181D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.56 191297 chr9 113549989 113549989 T A rs147562871 MUSK Nonsynonymous SNV Y180N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.99 191298 chr12 80671949 80671949 A G OTOGL Nonsynonymous SNV M886V 0 0.005 0 0 0 2 0 0 0 0 0 0 22.7 191299 chr9 116930168 116930168 T C rs756213906 COL27A1 Synonymous SNV H111H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.844 191300 chr1 216246606 216246606 C T rs111033409 USH2A Nonsynonymous SNV R1870Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.3 191301 chr1 230810858 230810858 T C rs113173809 COG2 Synonymous SNV D338D 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 0.006 191302 chrX 16863184 16863184 A G rs773248438 RBBP7 Nonsynonymous SNV S462P 0.007 0.003 0 4 8 1 0.01 0 3 0 0 2 16.67 191303 chrX 18959769 18959769 T G rs149219369 PHKA2 Synonymous SNV R248R 0.008 0.003 0 4 9 1 0.01 0 3 0 0 2 Benign/Likely benign 7.841 191304 chr12 88379752 88379752 T C rs149553336 C12orf50 Nonsynonymous SNV Y295C 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 15.13 191305 chrX 70888250 70888250 C T rs762073369 LOC101059915 Synonymous SNV G199G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.294 191306 chr1 222696080 222696080 G A rs368433073 HHIPL2 Stop gain R680X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 191307 chr1 234454528 234454528 A G rs758151372 SLC35F3 Nonsynonymous SNV K260R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 191308 chr11 2906369 2906369 C T CDKN1C Synonymous SNV P117P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 20.2 191309 chrX 80001086 80001086 G A rs187384754 BRWD3 Synonymous SNV S191S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.58 191310 chr1 236212209 236212209 A G NID1 Synonymous SNV G102G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 191311 chr9 125133492 125133497 TCCTGC - rs534752292 PTGS1 L15_L16del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 191312 chr9 125148729 125148729 G A rs145832816 PTGS1 Synonymous SNV E290E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.3 191313 chr11 3661037 3661037 C T rs753040292 ART5 Nonsynonymous SNV A208T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.4 191314 chr1 241907779 241907779 G A rs201509864 WDR64 Nonsynonymous SNV D519N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 191315 chr12 9875356 9875356 C A rs144252486 CLECL1 Nonsynonymous SNV V124L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 2.127 191316 chr9 126128293 126128293 C T rs146687164 CRB2 Synonymous SNV C172C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 18.07 191317 chr11 102826383 102826383 G A rs61733406 MMP13 Nonsynonymous SNV R18W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.34 191318 chr11 3688921 3688921 C T rs200221704 CHRNA10 Nonsynonymous SNV A146T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 191319 chr1 228494983 228494983 C T rs369660432 OBSCN Nonsynonymous SNV R4073W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 191320 chr9 130684139 130684139 G A rs770563843 PIP5KL1 Nonsynonymous SNV A188V 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 9.534 191321 chr11 112014401 112014401 C T rs199644300 IL18 Nonsynonymous SNV R163K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 191322 chr10 113920578 113920578 C T rs775676030 GPAM Nonsynonymous SNV E515K 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 34 191323 chr1 248059405 248059405 G C rs139271211 OR2W3 Nonsynonymous SNV E173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 191324 chr9 131747284 131747284 C A rs201723859 NUP188 Synonymous SNV T689T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 191325 chr13 21987811 21987811 T C rs376228644 ZDHHC20 Nonsynonymous SNV Y54C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 191326 chr8 121467738 121467738 A G rs78433859 MTBP Nonsynonymous SNV Y183C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.01 191327 chr8 121518958 121518958 A G rs78773213 MTBP Synonymous SNV L580L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.427 191328 chr11 118888681 118888681 T C RPS25 Nonsynonymous SNV K29R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 191329 chr10 121429393 121429393 C T rs387906874 BAG3 Nonsynonymous SNV R71W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 191330 chr1 26620787 26620787 G A rs374580848 UBXN11 Synonymous SNV G123G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 191331 chr11 120989190 120989190 C T rs770416583 TECTA Synonymous SNV C322C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 191332 chr8 126015470 126015470 G A SQLE Nonsynonymous SNV C115Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.616 191333 chr11 121000897 121000897 C T rs372286206 TECTA Nonsynonymous SNV P973L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 191334 chr5 174936094 174936094 A G rs888591861 SFXN1 Nonsynonymous SNV Y75C 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25.7 191335 chr1 246810819 246810819 G T rs139509083 CNST Nonsynonymous SNV C439F 0.002 0 0 0 2 0 0 0 0 0 0 0 24 191336 chr1 32256433 32256433 C T rs199579160 SPOCD1 Nonsynonymous SNV R621K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 191337 chr11 13736177 13736177 C G rs146816221 FAR1 Synonymous SNV A359A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 8.703 191338 chr11 14907321 14907321 C G CYP2R1 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 191339 chr10 13152326 13152326 G A OPTN Synonymous SNV S73S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 191340 chr9 139903027 139903027 C T rs932366501 ABCA2 Synonymous SNV Q2372Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 191341 chr1 36786263 36786263 C T SH3D21 Stop gain Q556X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 191342 chr10 13340195 13340195 T C rs150631501 PHYH Synonymous SNV Q42Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign/Likely benign 0.003 191343 chr11 17552707 17552707 C A rs41282942 USH1C Synonymous SNV G127G 0.005 0.005 0.003 3 6 2 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.69 191344 chr1 39763365 39763365 G T rs148207245 MACF1 Nonsynonymous SNV C815F 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 32 191345 chr9 140851278 140851278 C T rs199847935 CACNA1B Synonymous SNV D414D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 191346 chr1 41013057 41013057 C G ZNF684 Synonymous SNV P354P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 191347 chr13 53030706 53030706 T C rs202147843 CKAP2 Nonsynonymous SNV L40P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.688 191348 chr11 129996625 129996625 T C APLP2 Nonsynonymous SNV V145A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 191349 chr10 115423577 115423577 A G NRAP Nonsynonymous SNV I22T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 191350 chr2 3691636 3691636 G A rs369567362 COLEC11 Synonymous SNV S174S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.819 191351 chr1 45308532 45308532 C T PTCH2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 191352 chr9 32633250 32633250 C T TAF1L Nonsynonymous SNV M776I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 191353 chr1 45795080 45795080 C T rs143796254 MUTYH Synonymous SNV P373P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.73 191354 chr11 134046212 134046212 C A rs151063353 NCAPD3 Nonsynonymous SNV D893Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 191355 chr11 134252793 134252793 C T rs150095434 B3GAT1 Synonymous SNV T243T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.91 191356 chr9 34263155 34263155 G A rs201594047 KIF24 Stop gain R487X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 191357 chr9 34385726 34385726 C T C9orf24 Nonsynonymous SNV M63I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 191358 chr11 15267490 15267490 T A rs186730375 INSC Synonymous SNV P459P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.648 191359 chr9 35045089 35045089 C T rs757209452 C9orf131 Synonymous SNV D786D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.715 191360 chr14 102549481 102549481 G A rs140941217 HSP90AA1 Synonymous SNV L549L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.946 191361 chr1 54483836 54483836 C T rs534898515 LDLRAD1 Nonsynonymous SNV R5H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.385 191362 chr5 60170485 60170485 G A rs754566666 ERCC8 Nonsynonymous SNV P230L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 191363 chr9 74360232 74360232 T A rs776518433 CEMIP2 Nonsynonymous SNV T246S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.91 191364 chr11 2189810 2189810 C T rs376881948 TH Nonsynonymous SNV R133H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 191365 chr1 6189120 6189120 G A CHD5 Nonsynonymous SNV R1133C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 191366 chr2 27305096 27305096 C T rs374694196 EMILIN1 Synonymous SNV N219N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 191367 chr2 27676962 27676962 C A rs377521375 IFT172 Nonsynonymous SNV A1200S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 191368 chr11 45935395 45935395 A T PEX16 Nonsynonymous SNV S288T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24 191369 chr9 82323552 82323552 A T TLE4 Nonsynonymous SNV T278S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.28 191370 chr10 134511394 134511394 G C rs150016201 INPP5A Nonsynonymous SNV E85Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 24.6 191371 chr11 46388880 46388880 C T DGKZ Synonymous SNV P67P 0.005 0.008 0 0 6 3 0 0 0 0 0 0 14.15 191372 chr2 28755041 28755041 C T PLB1 Synonymous SNV L179L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 191373 chr11 46726027 46726027 C T rs749167902 ZNF408 Synonymous SNV G251G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 11.06 191374 chr1 6674160 6674160 C A PHF13 Nonsynonymous SNV P12T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.868 191375 chr10 50316006 50316006 C T VSTM4 Synonymous SNV P30P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.55 191376 chr9 95846859 95846859 C T rs137854973 SUSD3 Nonsynonymous SNV R93C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.394 191377 chr10 50682280 50682280 G A rs142641602 ERCC6 Synonymous SNV S797S 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.013 191378 chr10 13541852 13541852 C G BEND7 Nonsynonymous SNV G73A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 191379 chr9 99581151 99581151 T C rs781743465 ZNF782 Nonsynonymous SNV Q361R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 191380 chr10 54528017 54528017 G A rs370867162 MBL2 Synonymous SNV N209N 0.003 0 0 0 3 0 0 0 0 0 0 0 5.454 191381 chr10 55581961 55581961 C T rs777256021 PCDH15 Nonsynonymous SNV C1802Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.88 191382 chr1 84647411 84647411 G A rs758302887 PRKACB Synonymous SNV Q23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.949 191383 chr1 86308057 86308057 C T rs775541179 COL24A1 Nonsynonymous SNV G461E 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 191384 chr11 56510993 56510993 T C rs145542436 OR9G4 Nonsynonymous SNV S99G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.929 191385 chr2 38795548 38795548 T A HNRNPLL Nonsynonymous SNV Y485F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 191386 chr10 24889799 24889799 G C rs144895449 ARHGAP21 Nonsynonymous SNV L757V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.2 191387 chr8 31030535 31030535 C T rs11574410 WRN Stop gain R1406X 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 36 191388 chr10 696154 696154 G A rs376211649 PRR26 Nonsynonymous SNV R35Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.402 191389 chr1 9034703 9034703 C T rs147408666 CA6 Synonymous SNV F161F 0.002 0 0.007 4 2 0 0.01 2 0 0 0 0 5.087 191390 chr11 47360129 47360129 C T rs373338699 MYBPC3 Synonymous SNV T750T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.22 191391 chr8 42037532 42037532 C T rs748114951 PLAT Synonymous SNV V336V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.516 191392 chr1 92755777 92755779 AAG - rs747540662 GLMN L126del 0 0 0.003 0 0 0 0 1 0 0 0 0 191393 chr8 53085068 53085068 C T rs780642400 ST18 Nonsynonymous SNV R118K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.873 191394 chr1 9323894 9323894 G A rs34580447 H6PD Nonsynonymous SNV A459T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 191395 chr10 3190071 3190071 G A rs189721094 PITRM1-AS1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.16 191396 chr1 94496039 94496039 C T rs56357060 ABCA4 Nonsynonymous SNV V1433I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 191397 chr2 55408785 55408785 C G rs75073607 CLHC1 Nonsynonymous SNV A162P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.32 191398 chr10 33481336 33481336 T A rs368913853 NRP1 Synonymous SNV T638T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 191399 chr2 61416110 61416110 C T rs774051253 USP34 Nonsynonymous SNV C3323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 191400 chr6 107019976 107019976 G A rs200270996 RTN4IP1 Synonymous SNV I262I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.45 191401 chr6 109175683 109175683 C T rs370325755 ARMC2 Synonymous SNV S71S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.01 191402 chr6 109322635 109322635 A G rs201869796 SESN1 Synonymous SNV F75F 0 0 0 1 0 0 0.003 0 0 0 0 0 4.45 191403 chr10 45959690 45959690 C T MARCHF8 Nonsynonymous SNV C80Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 191404 chr14 53178175 53178175 A C PSMC6 Nonsynonymous SNV E24A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 191405 chr14 53570405 53570405 T C rs143307366 DDHD1 Synonymous SNV K336K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 3.549 191406 chr11 618640 618640 G T rs754585445 CDHR5 Nonsynonymous SNV T634N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 16.07 191407 chr6 112015725 112015725 C T rs376486970 FYN Nonsynonymous SNV A321T 0 0 0 1 0 0 0.003 0 0 0 0 0 28 191408 chr11 62295244 62295244 C T rs367622587 AHNAK Synonymous SNV V2215V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.763 191409 chr11 62380920 62380920 C G rs199847029 ROM1 Nonsynonymous SNV S56C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.8 191410 chr11 55371651 55371651 C T rs189794882 OR4C11 Nonsynonymous SNV A67T 0.01 0.013 0 0 12 5 0 0 6 2 0 0 8.7 191411 chr10 89552511 89552511 G T ATAD1 Nonsynonymous SNV A55E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 191412 chr11 63676667 63676667 C T rs145462100 MARK2 Synonymous SNV F696F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.43 191413 chr6 119136132 119136132 A G MCM9 Nonsynonymous SNV M1096T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 191414 chr11 56128295 56128298 TACT - rs774070239 OR8J1 L194Qfs*17 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 191415 chr11 64034875 64034875 C T PLCB3 Synonymous SNV P1117P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 191416 chr20 2637185 2637185 T C rs901206667 NOP56 Synonymous SNV D383D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 191417 chr20 2843503 2843503 C T rs368671330 VPS16 Synonymous SNV F418F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 191418 chr20 30432896 30432896 C T FOXS1 Synonymous SNV R150R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.554 191419 chr2 86302240 86302240 G A rs764885539 POLR1A Synonymous SNV S508S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.429 191420 chr2 96858125 96858125 G C STARD7 Synonymous SNV P275P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.21 191421 chr10 97515955 97515955 G C rs558491717 ENTPD1-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.16 191422 chr10 70266399 70266399 C A rs372559687 SLC25A16 Nonsynonymous SNV M100I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.2 191423 chr11 56257999 56257999 A G rs746253493 OR5M8 Nonsynonymous SNV M283T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.4 191424 chr10 105642449 105642449 G A rs140449924 STN1 Nonsynonymous SNV A367V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.6 191425 chr9 111753038 111753038 C T rs28361118 CTNNAL1 Nonsynonymous SNV E203K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 191426 chr11 67377028 67377028 G C rs144087607 NDUFV1 Synonymous SNV V135V 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 6.904 191427 chr2 109102982 109102982 A G rs533500477 GCC2 Nonsynonymous SNV I1270V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.029 191428 chr11 57259193 57259193 C G rs35730224 SLC43A1 Nonsynonymous SNV E338D 0.003 0.005 0.01 2 4 2 0.005 3 0 0 0 0 Likely benign 11.08 191429 chr2 113243512 113243512 T G rs753697157 TTL Nonsynonymous SNV V59G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 191430 chr11 57317490 57317490 T C rs377529138 SMTNL1 Synonymous SNV L464L 0.005 0.008 0 0 6 3 0 0 0 0 0 0 3.241 191431 chr20 49508308 49508308 C A rs143103063 ADNP Synonymous SNV V981V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.237 191432 chr20 50776687 50776687 G A rs139267211 ZFP64 Synonymous SNV L192L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.05 191433 chr9 117568230 117568230 G T rs146813484 TNFSF15 Nonsynonymous SNV H21Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 191434 chr10 122630690 122630690 G A rs318240760 WDR11 Nonsynonymous SNV A435T 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 20.1 191435 chr10 86131650 86131650 A G rs755457843 CCSER2 Nonsynonymous SNV N281S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 191436 chr2 125262118 125262118 G A CNTNAP5 Nonsynonymous SNV A438T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.105 191437 chr11 73528887 73528887 T A rs148147762 MRPL48 Nonsynonymous SNV W44R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 3.195 191438 chr2 128030505 128030505 - C rs770925947 ERCC3 Frameshift insertion E588Gfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 191439 chr2 128384641 128384641 G A rs755926990 MYO7B Nonsynonymous SNV R1410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 191440 chr11 56344781 56344781 G T OR5M10 Nonsynonymous SNV N139K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 191441 chr20 58180077 58180077 C T PHACTR3 Nonsynonymous SNV A3V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 191442 chr11 74412672 74412672 C G CHRDL2 Nonsynonymous SNV Q315H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 191443 chr10 92678706 92678706 C T rs148979787 ANKRD1 Synonymous SNV T123T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.57 191444 chr10 126715163 126715163 G A rs764377379 CTBP2 Nonsynonymous SNV A389V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.619 191445 chr11 105965361 105965361 G A rs546175982 AASDHPPT Nonsynonymous SNV D249N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.8 191446 chr11 60535018 60535018 C T rs201606829 MS4A15 Nonsynonymous SNV L80F 0.005 0.008 0 0 6 3 0 0 0 0 0 0 25.2 191447 chr15 29368269 29368269 G A rs149285403 APBA2 Synonymous SNV V52V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.48 191448 chr10 97096993 97096993 C T rs376968108 SORBS1 Nonsynonymous SNV R975Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 191449 chr11 111965649 111965649 C T rs200062830 SDHD Synonymous SNV H106H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 15.86 191450 chr10 134736203 134736203 C T CFAP46 Synonymous SNV T422T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.14 191451 chr11 801461 801461 C T rs370400383 PIDD1 Nonsynonymous SNV R489H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.2 191452 chr9 130690001 130690001 G T PIP5KL1 Nonsynonymous SNV A162D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 191453 chr2 161052759 161052759 G A rs61758143 ITGB6 Nonsynonymous SNV A63V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 191454 chr15 41046950 41046950 C G RMDN3 Nonsynonymous SNV R11P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25 191455 chr2 168100914 168100914 C T XIRP2 Synonymous SNV V782V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.011 191456 chr2 168104771 168104771 C T rs375426343 XIRP2 Nonsynonymous SNV P2068L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 191457 chr11 61205199 61205199 A G rs111402137 SDHAF2 Nonsynonymous SNV M47V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 0.348 191458 chr11 64435947 64435947 C T rs557104010 NRXN2 Nonsynonymous SNV V412I 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.9 191459 chr21 33642789 33642789 C T rs114381068 MIS18A Synonymous SNV V151V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.648 191460 chr21 33706601 33706601 C T rs79771468 URB1 Synonymous SNV T1576T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.69 191461 chr21 33755787 33755787 G A rs148857803 URB1 Nonsynonymous SNV H171Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 23.1 191462 chr2 176044863 176044863 G A rs144490355 ATP5MC3 Nonsynonymous SNV S28L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 191463 chr2 179413532 179413532 C T rs777150584 TTN Nonsynonymous SNV A21876T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 191464 chr21 38570309 38570309 G A rs200799336 TTC3 Nonsynonymous SNV D1223N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 191465 chr11 124750329 124750329 C A rs111924090 ROBO3 Nonsynonymous SNV P374Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 191466 chr9 137801759 137801759 T C rs138055828 FCN1 Nonsynonymous SNV N289S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 191467 chr2 179753334 179753334 T A CCDC141 Nonsynonymous SNV T443S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.236 191468 chr9 138589450 138589450 C T rs145448465 SOHLH1 Nonsynonymous SNV M123I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.222 191469 chr11 108159742 108159742 C T rs141087784 ATM Nonsynonymous SNV S1383L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Uncertain significance 26.5 191470 chr11 128442971 128442971 G C rs759946640 ETS1 Nonsynonymous SNV R19G 0.004 0 0 0 5 0 0 0 0 0 0 0 12.02 191471 chr11 65408558 65408558 G A rs756494031 SIPA1 Nonsynonymous SNV D56N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.1 191472 chr2 190660630 190660630 - A rs753745201 PMS1 Stop gain Y90* 0.001 0 0 0 1 0 0 0 0 0 0 0 191473 chr11 133805657 133805657 G A rs201954664 IGSF9B Synonymous SNV N274N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 191474 chr21 46925149 46925149 A C rs1004161700 COL18A1 Synonymous SNV P1167P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 191475 chr21 47572892 47572892 A G rs374097903 FTCD Nonsynonymous SNV V99A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 191476 chr12 113382281 113382281 G T rs200770928 OAS3 Nonsynonymous SNV G154V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 191477 chr11 66359110 66359110 A C rs776465296 CCDC87 Nonsynonymous SNV I459M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.625 191478 chr11 66454564 66454564 G A rs145891813 SPTBN2 Nonsynonymous SNV A2266V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.303 191479 chr15 65851028 65851028 G A rs200531541 HACD3 Nonsynonymous SNV R127H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.7 191480 chr12 113534669 113534669 G A rs111233046 DTX1 Synonymous SNV P596P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.28 191481 chr15 67841538 67841538 C T rs1057019304 MAP2K5 Nonsynonymous SNV P7L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.959 191482 chr15 68122575 68122575 G A rs150139245 SKOR1 Synonymous SNV T818T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.25 191483 chr2 204304514 204304514 G T rs200405752 RAPH1 Synonymous SNV L1133L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.471 191484 chr9 215083 215083 T C rs201447274 DOCK8-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 191485 chr22 19711784 19711784 G C GP1BB Nonsynonymous SNV A140P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 191486 chr2 207172119 207172119 C A rs377460663 ZDBF2 Nonsynonymous SNV T956K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.26 191487 chr22 19961673 19961673 C T rs138605057 ARVCF Nonsynonymous SNV A684T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 191488 chr9 32418466 32418466 C T ACO1 Synonymous SNV D205D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 191489 chr9 33941796 33941796 C T rs150194348 UBAP2 Nonsynonymous SNV V541I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 191490 chr2 210806068 210806068 A G rs545275856 UNC80 Nonsynonymous SNV N2191S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 191491 chr15 75668209 75668209 G A rs138854954 SIN3A Synonymous SNV L1130L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.78 191492 chr15 75815559 75815559 T C rs140490690 PTPN9 Nonsynonymous SNV I109V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.65 191493 chr9 35704359 35704359 C T rs759087292 TLN1 Nonsynonymous SNV R2006H 0.003 0 0 0 4 0 0 0 0 0 0 0 27.6 191494 chr12 12291339 12291339 T G rs145672862 LRP6 Nonsynonymous SNV E1176A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 191495 chr22 22869602 22869602 T C rs748061349 ZNF280A Nonsynonymous SNV K118R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 191496 chr12 123459914 123459914 G A rs971310876 OGFOD2 Nonsynonymous SNV R39H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.85 191497 chr2 219134221 219134221 T C rs141356609 AAMP Nonsynonymous SNV E53G 0.002 0 0 0 2 0 0 0 0 0 0 0 22 191498 chr11 883161 883161 C G rs770419040 CHID1 Nonsynonymous SNV V285L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 2.775 191499 chr11 77775352 77775352 C T rs117003832 THRSP Nonsynonymous SNV T142M 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 17.74 191500 chr11 32632766 32632766 C T CCDC73 Nonsynonymous SNV S981N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.79 191501 chr2 220329165 220329165 C T rs368595613 SPEG Nonsynonymous SNV R57C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 191502 chr9 77631344 77631344 T C rs777524962 CARNMT1 Nonsynonymous SNV N65D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.575 191503 chr12 132400548 132400548 C G rs142265536 ULK1 Synonymous SNV P574P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 10.27 191504 chr12 132401007 132401007 G A rs555905698 ULK1 Nonsynonymous SNV R648Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.9 191505 chr11 3660908 3660908 G T rs755213415 ART5 Nonsynonymous SNV Q251K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.845 191506 chr11 3724013 3724013 G C NUP98 Synonymous SNV S1017S 0.003 0 0 0 4 0 0 0 0 0 0 0 0.023 191507 chr22 32000366 32000366 G A rs61738369 SFI1 Synonymous SNV L596L 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 1.115 191508 chr12 104350450 104350450 C A rs201697510 C12orf73 Nonsynonymous SNV A23S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 191509 chr6 88228395 88228395 G A rs377000350 RARS2 Synonymous SNV R281R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.46 191510 chr2 227907841 227907841 G T COL4A4 Nonsynonymous SNV P1117T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 191511 chr2 228767756 228767756 G A DAW1 Synonymous SNV A193A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.679 191512 chr10 91498735 91498735 C T rs753864053 KIF20B Nonsynonymous SNV A1266V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.405 191513 chr2 230312075 230312075 C T rs144811178 DNER Synonymous SNV T481T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.35 191514 chr11 46819674 46819674 C T CKAP5 Nonsynonymous SNV V378I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 32 191515 chr9 99150588 99150588 C G rs750536841 ZNF367 Synonymous SNV R328R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.756 191516 chr11 47356609 47356609 T C MYBPC3 Synonymous SNV T963T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 2.682 191517 chr11 96117812 96117812 T C rs61746142 CCDC82 Nonsynonymous SNV I34V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.529 191518 chr22 38823841 38823841 C T rs768172243 KCNJ4 Synonymous SNV P99P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.556 191519 chr22 40676095 40676095 C A rs201197549 TNRC6B Nonsynonymous SNV P1067Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 191520 chr22 40807436 40807436 G A rs148865274 MRTFA Synonymous SNV L918L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.233 191521 chr22 40814966 40814966 C T rs144968877 MRTFA Synonymous SNV S492S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.87 191522 chr22 42392968 42392968 A G rs769455403 SEPTIN3 Synonymous SNV E358E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.856 191523 chr22 42456411 42456411 C T NAGA Nonsynonymous SNV D370N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 191524 chr2 234731110 234731110 A G rs760164391 MROH2A Synonymous SNV G1258G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 191525 chr16 14748960 14748960 A T rs1040105800 BFAR Nonsynonymous SNV T101S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 191526 chr2 234758498 234758498 G C rs141413290 HJURP Nonsynonymous SNV S83C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.092 191527 chr2 234863860 234863860 A C rs143385407 TRPM8 Nonsynonymous SNV N443T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 191528 chr16 15675177 15675177 C T rs550156788 BMERB1 Synonymous SNV V119V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.44 191529 chr16 16138323 16138323 G A ABCC1 Nonsynonymous SNV V276M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.501 191530 chrX 13752240 13752240 C T rs746032983 TRAPPC2 Stop gain W4X 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 191531 chr12 46245920 46245920 A G ARID2 Synonymous SNV K1338K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.104 191532 chr22 45683116 45683116 A T rs6006979 UPK3A Nonsynonymous SNV Q91L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 18.21 191533 chr22 46594359 46594359 T C PPARA Nonsynonymous SNV F27L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 191534 chr12 48177924 48177926 TTT - rs777259632 HDAC7 K919del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 191535 chr12 110983852 110983852 G A rs373235883 PPTC7 Synonymous SNV D145D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.247 191536 chr16 20952757 20952757 T C rs777597339 DNAH3 Nonsynonymous SNV T3828A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 191537 chr2 242021733 242021733 G A rs572761965 SNED1 Nonsynonymous SNV E1359K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 191538 chr11 102080254 102080254 C T rs193100333 YAP1 Nonsynonymous SNV R293W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 34 191539 chr22 51009468 51009468 G T rs146224883 CPT1B Nonsynonymous SNV A593E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.384 191540 chr22 51010737 51010737 C T rs140863538 CPT1B Synonymous SNV R417R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 191541 chr2 242572603 242572603 G A THAP4 Synonymous SNV A323A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.97 191542 chr2 101591380 101591380 C T rs552031760 NPAS2 Nonsynonymous SNV S419L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.3 191543 chr11 47746197 47746197 G A rs375822530 FNBP4 Synonymous SNV P716P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.064 191544 chr3 4776858 4776858 C T rs769349793 ITPR1 Synonymous SNV S1725S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.16 191545 chr16 29906773 29906773 C T rs149331377 SEZ6L2 Synonymous SNV T176T 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 11.52 191546 chr12 122260635 122260635 G C rs200348800 SETD1B Nonsynonymous SNV G1384R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.21 191547 chrX 54359884 54359884 A C rs140257369 WNK3 Nonsynonymous SNV S75A 0.001 0 0 4 1 0 0.01 0 0 0 0 1 0.01 191548 chr16 30735517 30735517 C T rs769281819 SRCAP Nonsynonymous SNV A1591V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.13 191549 chr11 55927584 55927584 A T rs141612231 OR8K5 Nonsynonymous SNV D70E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 191550 chr12 124281312 124281312 G T rs143386728 DNAH10 Nonsynonymous SNV R581L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 191551 chr3 12785478 12785478 A G rs371342903 TMEM40 Synonymous SNV D90D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.271 191552 chr7 123672789 123672789 G A TMEM229A Nonsynonymous SNV S90L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 191553 chr12 54969870 54969870 T G rs148673155 PDE1B Synonymous SNV S250S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 9.066 191554 chr2 128390879 128390879 G A rs372050866 MYO7B Nonsynonymous SNV A1792T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.81 191555 chr12 130184933 130184933 T C rs753420447 TMEM132D Synonymous SNV K130K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.097 191556 chr2 131521528 131521528 G C rs749936869 AMER3 Nonsynonymous SNV G628A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 191557 chr3 16310770 16310770 G A rs774824032 OXNAD1 Synonymous SNV S6S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 191558 chr16 4407967 4407967 A C rs760111111 CORO7, CORO7-PAM16 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 191559 chr3 32031123 32031123 C T rs201604355 ZNF860 Synonymous SNV N184N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.74 191560 chr3 32737236 32737236 G A CNOT10 Nonsynonymous SNV R40Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 191561 chr11 56237373 56237373 C T rs112887160 OR5M3 Nonsynonymous SNV A201T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 191562 chr3 36899031 36899031 G A rs367790547 TRANK1 Synonymous SNV L684L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.654 191563 chr16 4871396 4871396 G A rs1025851823 GLYR1 Nonsynonymous SNV T183I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 191564 chr2 152518694 152518694 C T NEB Synonymous SNV S1975S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.48 191565 chr3 37367033 37367033 T C rs756204041 GOLGA4 Nonsynonymous SNV I1219T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 191566 chr16 54953116 54953116 C T rs148646307 CRNDE Synonymous SNV Q46Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.56 191567 chr12 25260961 25260961 C T rs369048485 LRMP Stop gain Q456X 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 191568 chr2 167266831 167266831 C T rs77645356 SCN7A Nonsynonymous SNV G1204R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 191569 chr3 42242538 42242538 C T rs143049389 TRAK1 Synonymous SNV A399A 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 17.31 191570 chr3 42727522 42727522 C T KLHL40 Nonsynonymous SNV R138C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 191571 chr12 2922024 2922024 T G ITFG2-AS1, ITFG2 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 191572 chr3 42727578 42727578 C G KLHL40 Nonsynonymous SNV I156M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 191573 chr11 58723307 58723307 G A rs761990293 GLYATL1 Nonsynonymous SNV R239Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.77 191574 chr11 55944438 55944438 G C OR5J2 Synonymous SNV L115L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.439 191575 chr2 169707506 169707506 T C rs112438419 NOSTRIN Nonsynonymous SNV V264A 0.003 0.003 0.017 2 3 1 0.005 5 0 0 0 0 0.017 191576 chr3 42915951 42915951 A C rs374042052 CYP8B1 Nonsynonymous SNV F453C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 191577 chr3 43122289 43122289 T C rs141665095 POMGNT2 Nonsynonymous SNV K212R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.26 191578 chr12 71977860 71977860 G T rs138322487 LGR5 Synonymous SNV L666L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.129 191579 chr12 72094699 72094699 C T rs745351843 TMEM19 Nonsynonymous SNV A312V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 191580 chr10 124390771 124390771 G A rs146475455 DMBT1 Nonsynonymous SNV R1350H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.162 191581 chr16 67183278 67183278 C G rs921034211 B3GNT9 Nonsynonymous SNV D371H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 26.4 191582 chr16 67281143 67281143 C A rs377443760 FHOD1 Synonymous SNV A57A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 191583 chr2 173451016 173451016 G A rs368778633 PDK1 Nonsynonymous SNV R319Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 191584 chr12 80749524 80749524 G A rs771696788 OTOGL Nonsynonymous SNV D1859N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 191585 chr2 179456400 179456400 C T rs200455644 TTN Nonsynonymous SNV R10984H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.9 191586 chr12 51773364 51773364 T C rs187506941 GALNT6 Nonsynonymous SNV M68V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.93 191587 chr11 60638699 60638699 G A rs372297696 ZP1 Nonsynonymous SNV D342N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 191588 chr12 88586544 88586544 C T TMTC3 Synonymous SNV L393L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.72 191589 chr3 47030393 47030393 G A rs377660462 NBEAL2 Nonsynonymous SNV E61K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 191590 chr7 157903565 157903565 G A rs149853423 PTPRN2 Synonymous SNV V495V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.581 191591 chr7 16502202 16502202 T - rs554609300 SOSTDC1 S198Afs*8 0 0.005 0 5 0 2 0.013 0 0 0 0 0 191592 chr16 77228435 77228435 C A rs200069621 MON1B Nonsynonymous SNV R81S 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 32 191593 chr3 49690790 49690790 A G BSN Nonsynonymous SNV I1267M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 191594 chr12 5021559 5021559 C T rs372832102 KCNA1 Synonymous SNV L339L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.914 191595 chr3 50679180 50679180 C T rs753466591 MAPKAPK3 Synonymous SNV G134G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.5 191596 chr3 52281070 52281070 C T rs779580983 PPM1M Synonymous SNV H141H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 20.2 191597 chr13 103389848 103389848 T A rs929747681 CCDC168 Nonsynonymous SNV D4400V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 5.397 191598 chr10 24816944 24816944 A C rs374904740 KIAA1217 Nonsynonymous SNV E676A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.9 191599 chr16 84212927 84212927 C T rs748787237 TAF1C Nonsynonymous SNV G412R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.008 191600 chr16 84227771 84227771 T C ADAD2 Nonsynonymous SNV L193P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.87 191601 chr12 55714742 55714742 G A rs148191903 OR6C1 Nonsynonymous SNV R120H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.6 191602 chr13 107145762 107145762 C T rs368363140 EFNB2 Nonsynonymous SNV G179S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 191603 chr11 280126 280126 C T rs772101945 NLRP6 Nonsynonymous SNV A131V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.87 191604 chr16 845299 845299 T C rs61759476 CHTF18 Synonymous SNV H706H 0.004 0.005 0.014 3 5 2 0.008 4 0 0 0 0 0.144 191605 chr10 31138653 31138653 C G ZNF438 Nonsynonymous SNV E227D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 191606 chr3 58116548 58116548 G A rs536769087 FLNB Nonsynonymous SNV V1435I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 191607 chr13 113699173 113699173 G A rs757479815 MCF2L Synonymous SNV T45T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.596 191608 chr3 58555502 58555502 A T rs11539084 FAM107A Nonsynonymous SNV I29N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 191609 chr3 62860354 62860354 C T rs140977565 CADPS Synonymous SNV K117K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 191610 chr13 24797564 24797564 C T rs150850951 SPATA13 Nonsynonymous SNV P166L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.03 191611 chr2 218925379 218925379 C G rs114673719 CXCR2P1 0 0 0.014 0 0 0 0 4 0 0 0 0 5.605 191612 chr10 49658454 49658454 G T rs749348410 ARHGAP22 Nonsynonymous SNV A483E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 191613 chr3 100963099 100963099 A G IMPG2 Synonymous SNV D692D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.003 191614 chr3 101284654 101284654 A G TRMT10C Synonymous SNV Q343Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.803 191615 chr12 7015720 7015720 C T rs116689978 LRRC23 Synonymous SNV A128A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 15.85 191616 chr7 4901028 4901028 C T rs771487955 PAPOLB Synonymous SNV L138L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.002 191617 chr12 72013117 72013117 - CTT ZFC3H1 K1707_Y1708insK 0.001 0 0 0 1 0 0 0 0 0 0 0 191618 chr12 72090233 72090233 A T rs145311574 TMEM19 Nonsynonymous SNV I88F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 191619 chr3 111794187 111794187 C T rs367616772 TMPRSS7 Synonymous SNV S475S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 191620 chr10 5777374 5777374 G T rs954776982 TASOR2 Nonsynonymous SNV A438S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.486 191621 chr13 36396878 36396878 T C rs146035571 DCLK1 Synonymous SNV P207P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.224 191622 chr2 220427371 220427371 G A rs747837754 OBSL1 Synonymous SNV P902P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 191623 chr13 39586994 39586994 C G PROSER1 Nonsynonymous SNV V777L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 191624 chr7 64168499 64168499 A C rs765413029 ZNF107 Nonsynonymous SNV K643T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 191625 chr17 1370802 1370802 C T rs375446021 MYO1C Nonsynonymous SNV V1013M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.5 191626 chr12 80732900 80732900 G A rs143817729 OTOGL Nonsynonymous SNV E1627K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23 191627 chr3 113955299 113955299 C G rs765345122 ZNF80 Nonsynonymous SNV S208T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 191628 chr3 114014427 114014427 A G rs13098836 TIGIT Nonsynonymous SNV I33V 0.004 0.003 0.01 1 5 1 0.003 3 0 0 0 0 0.009 191629 chr13 46549574 46549579 TCTCGC - rs766154351 ZC3H13 E775_R776del 0 0.003 0 0 0 1 0 0 0 0 0 0 191630 chr7 72971840 72971840 C T rs782572704 BCL7B Synonymous SNV A23A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.93 191631 chr17 18023568 18023568 T C rs200532919 MYO15A Nonsynonymous SNV V485A 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 191632 chr12 80203752 80203752 T G rs200571603 PPP1R12A Nonsynonymous SNV E339D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.16 191633 chr13 58207428 58207428 G A rs767956474 PCDH17 Nonsynonymous SNV V250M 0 0.003 0 0 0 1 0 0 0 0 0 0 26 191634 chr13 73320856 73320856 A G rs41286054 BORA Synonymous SNV E312E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.477 191635 chr13 80107567 80107567 T A rs146142126 NDFIP2 Synonymous SNV A199A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 191636 chr3 124153246 124153246 C T rs61758999 KALRN Synonymous SNV Y972Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.657 191637 chr14 100759275 100759275 G A rs773118795 SLC25A29 Nonsynonymous SNV A20V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 8.936 191638 chr12 9087808 9087808 C T PHC1 Nonsynonymous SNV P781L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 191639 chr12 95928005 95928005 C T rs774881356 USP44 Nonsynonymous SNV V10I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.624 191640 chr3 126708481 126708481 G C rs41266465 PLXNA1 Nonsynonymous SNV V349L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 191641 chr3 128202793 128202793 G A rs750077677 GATA2 Synonymous SNV D309D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.55 191642 chr2 242163534 242163534 T G ANO7 Nonsynonymous SNV F869C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 191643 chr2 24443793 24443796 AGCC - rs776371816 ITSN2 S1241Lfs*30 0 0 0.003 0 0 0 0 1 0 0 0 0 191644 chr12 9885675 9885675 G T rs142098692 CLECL1 Synonymous SNV P62P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.034 191645 chr12 99053109 99053109 G A rs141157255 APAF1 Nonsynonymous SNV R222H 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 191646 chr2 26538487 26538487 G A ADGRF3 Synonymous SNV P206P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.27 191647 chr11 94532875 94532875 G A rs190250592 AMOTL1 Synonymous SNV E123E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.307 191648 chr2 27448789 27448789 G T rs749682494 CAD Nonsynonymous SNV V613F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 191649 chr2 27601158 27601158 C T rs755265698 ZNF513 Nonsynonymous SNV G232S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 191650 chr3 133119067 133119067 T G BFSP2 Nonsynonymous SNV M47R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 191651 chr2 27887363 27887363 C T rs199925806 SLC4A1AP Synonymous SNV R248R 0 0 0.007 0 0 0 0 2 0 0 0 0 15.04 191652 chr13 111287067 111287067 C T rs61734918 NAXD Nonsynonymous SNV R89W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 191653 chr13 111367805 111367805 A G rs199539276 ING1 Synonymous SNV E5E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.52 191654 chr12 104149161 104149161 G A STAB2 Nonsynonymous SNV G2266S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 191655 chr13 113817369 113817369 C A PROZ Stop gain C102X 0.002 0 0 0 2 0 0 0 0 0 0 0 32 191656 chr3 142548639 142548639 A T PCOLCE2 Nonsynonymous SNV L254I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 191657 chr13 21549276 21549276 C T rs772096823 LATS2 Synonymous SNV S1000S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.49 191658 chr13 31231744 31231744 C A rs141512077 USPL1 Synonymous SNV A181A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 191659 chr12 109520491 109520491 C T rs745911042 USP30 Synonymous SNV N297N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 191660 chr13 32914592 32914592 C T rs1799954 BRCA2 Nonsynonymous SNV R2034C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 21.6 191661 chr14 23467813 23467813 G A rs113664500 C14orf93 Synonymous SNV A140A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.44 191662 chr12 110032922 110032922 C T rs748947620 MVK Synonymous SNV R273R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.81 191663 chr11 56756424 56756424 C T rs192607423 OR5AK2 Synonymous SNV F12F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.388 191664 chr12 112184005 112184005 G A rs374399374 ACAD10 Nonsynonymous SNV E725K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 191665 chr13 31216868 31216868 G A rs759122826 USPL1 Synonymous SNV S33S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.77 191666 chr14 24572087 24572087 C T rs200079405 PCK2 Nonsynonymous SNV R320C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 191667 chr13 31227318 31227318 A T rs770423148 USPL1 Nonsynonymous SNV E95D 0.003 0 0 0 3 0 0 0 0 0 0 0 23 191668 chr14 24731074 24731074 A G rs779855523 TGM1 Nonsynonymous SNV V112A 0 0.003 0 0 0 1 0 0 0 0 0 0 25 191669 chr11 57367469 57367469 G A rs752993036 SERPING1 Nonsynonymous SNV E57K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 2.338 191670 chr12 11421038 11421038 G A rs71455367 PRB3 Nonsynonymous SNV R49C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Pathogenic 12.07 191671 chr13 32913562 32913562 A C rs56087561 BRCA2 Nonsynonymous SNV K1690N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.1 191672 chr12 114383723 114383723 G C rs201150757 RBM19 Nonsynonymous SNV H512Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 191673 chr12 117724044 117724044 C T rs770197855 NOS1 Synonymous SNV R49R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.39 191674 chr13 44241624 44241624 G A rs950284613 ENOX1 Nonsynonymous SNV P8S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.69 191675 chr12 104397075 104397075 G A rs150172280 GLT8D2 Nonsynonymous SNV S41F 0.003 0.005 0 0 4 2 0 0 0 0 0 0 21.8 191676 chr13 60566633 60566633 G A rs200549508 DIAPH3 Nonsynonymous SNV R104C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 191677 chr13 60584747 60584747 G A rs753680276 DIAPH3 Synonymous SNV A13A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 191678 chr2 86693737 86693737 G T rs143405154 KDM3A Nonsynonymous SNV C417F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.339 191679 chr13 76301229 76301229 G C rs138203445 LMO7 Nonsynonymous SNV G69R 0.002 0 0 0 2 0 0 0 0 0 0 0 29 191680 chr12 110206376 110206376 C T rs36083947 FAM222A Synonymous SNV G214G 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 13.84 191681 chr12 110783086 110783086 G A rs147309970 ATP2A2 Synonymous SNV P880P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.91 191682 chr12 111785452 111785452 G A rs746867438 CUX2 Nonsynonymous SNV D1200N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.882 191683 chr13 95257773 95257773 A G rs751503929 GPR180 Nonsynonymous SNV S92G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.86 191684 chr2 98430460 98430460 C T rs376988031 TMEM131 Nonsynonymous SNV V531M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 32 191685 chr12 132547089 132547089 - GC rs60930033 EP400 Frameshift insertion Q2727Hfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 191686 chr12 132547090 132547090 - GCAG EP400 Frameshift insertion Q2727Afs*257 0.001 0 0 0 1 0 0 0 0 0 0 0 191687 chr12 132631873 132631873 G A rs80143642 NOC4L Synonymous SNV A131A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.655 191688 chr3 194152605 194152605 A G rs191418843 ATP13A3 Synonymous SNV T754T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.055 191689 chr3 194349121 194349121 G A rs781347969 TMEM44 Synonymous SNV L85L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 191690 chr14 60582677 60582677 A G rs192269112 PCNX4 Nonsynonymous SNV N259D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.98 191691 chr11 62649510 62649510 C T rs138578664 SLC3A2 Synonymous SNV D190D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.05 191692 chr11 62752162 62752162 T C rs374545276 SLC22A6 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 191693 chr17 4576616 4576616 G C PELP1 Nonsynonymous SNV P592A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 191694 chr14 61190739 61190739 T C rs147474764 SIX4 Synonymous SNV Q18Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.007 191695 chr14 102229277 102229277 A G rs768360842 PPP2R5C Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 191696 chr3 195515723 195515723 T C rs56943541 MUC4 Nonsynonymous SNV T910A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 0.359 191697 chr14 63881929 63881929 G T rs10133826 PPP2R5E Synonymous SNV R84R 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 Benign 11.45 191698 chr14 102973755 102973755 C A ANKRD9 Nonsynonymous SNV G158C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 191699 chr12 18552629 18552629 T G rs749961710 PIK3C2G Stop gain Y680X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 191700 chr14 65289773 65289773 G A rs147059670 SPTB Nonsynonymous SNV P14S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.27 191701 chr14 20849732 20849732 G A rs150148697 TEP1 Nonsynonymous SNV T1405M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 191702 chr8 2091356 2091356 C T rs35321833 MYOM2 Synonymous SNV D1352D 0 0 0 2 0 0 0.005 0 0 0 0 0 10.8 191703 chr17 48632646 48632646 C T rs780672548 SPATA20 Synonymous SNV C721C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.13 191704 chr17 48655910 48655910 C T CACNA1G Synonymous SNV I762I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.24 191705 chr17 4918116 4918116 C G KIF1C Synonymous SNV P550P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.07 191706 chr4 1397083 1397083 G A rs779328663 NKX1-1 Synonymous SNV N328N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.213 191707 chr14 21501986 21501986 C A rs199616382 RNASE13 Synonymous SNV S154S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.74 191708 chr17 56386024 56386024 T C rs925943591 TSPOAP1 Nonsynonymous SNV R1477G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.24 191709 chr17 57733339 57733339 C T rs756921292 CLTC Nonsynonymous SNV A311V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 191710 chr12 132325122 132325122 C T rs150618864 MMP17 Nonsynonymous SNV R143W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 191711 chr14 90442125 90442125 G A rs202165305 TDP1 Nonsynonymous SNV A253T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 191712 chr12 133327420 133327420 T C ANKLE2 Nonsynonymous SNV Y219C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.6 191713 chr12 133331458 133331458 T A ANKLE2 Nonsynonymous SNV Q148L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.1 191714 chr11 129780535 129780535 A G rs142841161 PRDM10 Nonsynonymous SNV L867S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 28.4 191715 chr4 6335391 6335391 G A rs372205984 PPP2R2C Synonymous SNV D272D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 191716 chr4 6380264 6380264 G A rs200481224 PPP2R2C Synonymous SNV D54D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.3 191717 chr3 126915785 126915785 A G rs188273445 C3orf56 Nonsynonymous SNV Y86C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 191718 chr14 23243146 23243146 G A rs373156106 SLC7A7 Synonymous SNV I475I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.85 191719 chr14 24780849 24780849 C G rs377045409 LTB4R2 Nonsynonymous SNV L327V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.7 191720 chr14 93649546 93649546 C T rs780673627 MOAP1 Nonsynonymous SNV G348S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.51 191721 chr4 7677800 7677800 C T rs146718951 SORCS2 Synonymous SNV D395D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 191722 chr12 48921830 48921830 C T rs759049231 OR8S1 Nonsynonymous SNV P342S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.494 191723 chr14 31358755 31358755 T C rs12101040 LOC100506071 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.367 191724 chr3 12977651 12977651 C T rs771507649 IQSEC1 Nonsynonymous SNV V289I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 191725 chr4 8376835 8376835 C T rs60183225 ACOX3 Synonymous SNV T566T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.516 191726 chr4 13605701 13605701 T C rs769349048 BOD1L1 Synonymous SNV P941P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.529 191727 chr12 27573397 27573397 A G ARNTL2 X541W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 191728 chr4 17616349 17616349 G A rs146036794 MED28 Synonymous SNV P24P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.05 191729 chr4 23814710 23814710 C T rs144103777 PPARGC1A Nonsynonymous SNV R484H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 21.1 191730 chr12 52943882 52943882 G C KRT71 Nonsynonymous SNV S196C 0.002 0 0 0 2 0 0 0 0 0 0 0 6.378 191731 chr3 143691435 143691435 C T rs771642352 DIPK2A Synonymous SNV N87N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 191732 chr3 14725786 14725786 G A rs763554370 C3orf20 Synonymous SNV V52V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 191733 chr14 52937255 52937255 C A rs7155490 TXNDC16 Stop gain E481X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 191734 chr14 53003439 53003439 G A rs775481490 TXNDC16 Synonymous SNV L130L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.97 191735 chr3 151166049 151166049 C T rs116716539 IGSF10 Nonsynonymous SNV E574K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.72 191736 chr4 41633296 41633296 T C rs559208550 LIMCH1 Nonsynonymous SNV F468S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 191737 chr3 153839931 153839931 T A ARHGEF26 Nonsynonymous SNV D50E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 191738 chr12 45168561 45168561 A G NELL2 Synonymous SNV Y321Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.521 191739 chr11 32456691 32456691 C A rs5030135 WT1 Nonsynonymous SNV Q72H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 3.267 191740 chr14 55468812 55468812 T A rs138410771 WDHD1 Nonsynonymous SNV Q108L 0.005 0.003 0.007 0 6 1 0 2 1 0 0 0 22.8 191741 chr14 57960374 57960374 G T rs140776555 CCDC198 Nonsynonymous SNV N20K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 191742 chr4 48037726 48037726 T G rs765949963 NIPAL1 Nonsynonymous SNV L257R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 191743 chr11 33163518 33163518 G A rs139992455 CSTF3 Synonymous SNV V14V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.447 191744 chr11 33689556 33689556 G A rs542064565 KIAA1549L Synonymous SNV A2099A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.372 191745 chr17 74623291 74623291 G C rs774921973 ST6GALNAC1 Nonsynonymous SNV P344A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.27 191746 chr14 63246563 63246563 C T rs200142051 KCNH5 Synonymous SNV T634T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.47 191747 chr17 7578464 7578464 G A rs563378859 TP53 Nonsynonymous SNV R24C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.47 191748 chr3 178137022 178137022 A G rs115973782 LINC01014 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 191749 chr12 57423292 57423292 A G rs372760228 MYO1A Nonsynonymous SNV I935T 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Uncertain significance 25.8 191750 chr12 57578642 57578642 C T rs374626710 LRP1 Synonymous SNV C2069C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 191751 chr17 76433844 76433844 G T DNAH17 Nonsynonymous SNV A3971D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 191752 chr14 65008374 65008374 T C rs199701832 HSPA2 Synonymous SNV A269A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.359 191753 chr3 182870248 182870248 G A rs151059567 LAMP3 Nonsynonymous SNV T268M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 191754 chr12 51065164 51065164 T C rs201761648 DIP2B Nonsynonymous SNV F208S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.3 191755 chr3 183585698 183585698 G A rs1009407201 PARL Synonymous SNV P92P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.533 191756 chr4 71346989 71346989 A G rs763086576 MUC7 Synonymous SNV T176T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 191757 chr14 69814650 69814650 C G rs147499435 GALNT16 Synonymous SNV T490T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.69 191758 chr4 73280626 73280626 C A ADAMTS3 Nonsynonymous SNV Q189H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 191759 chr12 100175873 100175873 T C rs752518375 ANKS1B Synonymous SNV T224T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 191760 chr4 76846907 76846907 A G rs749761779 NAAA Nonsynonymous SNV V216A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 191761 chr4 77134617 77134617 C T rs368906199 SCARB2 Nonsynonymous SNV R27Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 191762 chr17 78081655 78081655 G A rs150343359 GAA Synonymous SNV G305G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.821 191763 chr14 75265343 75265343 C T rs200021043 YLPM1 Nonsynonymous SNV R1115W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 191764 chr17 78302199 78302199 C T RNF213 Synonymous SNV L1147L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.779 191765 chr17 79077370 79077370 G A rs768770966 BAIAP2 Synonymous SNV P237P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.166 191766 chr14 77493762 77493776 TGCTGCTGCTGCTGC - IRF2BPL Q123_Q127del 0.002 0 0 0 2 0 0 0 0 0 0 0 191767 chr14 77493771 77493776 TGCTGC - IRF2BPL Q126_Q127del 0.001 0 0 0 1 0 0 0 0 0 0 0 191768 chr14 77797537 77797537 A G rs145801366 GSTZ1 X175W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 191769 chr17 79782413 79782413 G A rs148964163 MCRIP1 Synonymous SNV G11G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.23 191770 chr17 79817106 79817106 G A rs145332986 P4HB Synonymous SNV T101T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.038 191771 chr14 88442833 88442833 C T GALC 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 191772 chr17 79857221 79857221 T G rs61751632 ANAPC11 Synonymous SNV A71A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 1.515 191773 chr17 79860378 79860378 A G rs182909729 NPB Synonymous SNV Q75Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.234 191774 chr17 79892994 79892994 C T rs35533499 PYCR1 Synonymous SNV R116R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 9.901 191775 chr3 196236488 196236488 T C SMCO1 Nonsynonymous SNV T35A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.832 191776 chr14 91779740 91779740 C T rs780818616 CCDC88C Nonsynonymous SNV R807Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22 191777 chr14 92076891 92076891 G C rs754044973 CATSPERB Nonsynonymous SNV P844R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 191778 chr4 94750885 94750885 G C rs35227734 ATOH1 Nonsynonymous SNV G270R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25 191779 chr3 21448176 21448181 AAAAAA - rs780028993 VENTXP7 0 0 0.065 0 0 0 0 19 0 0 7 0 191780 chr14 93720138 93720138 - A rs777487601 BTBD7 0.001 0 0 0 1 0 0 0 0 0 0 0 191781 chr4 96762043 96762043 C T rs200847664 PDHA2 Nonsynonymous SNV P248S 0.001 0 0 0 1 0 0 0 0 0 0 0 27 191782 chr17 8272700 8272700 T C rs747663095 KRBA2 Nonsynonymous SNV M329V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.67 191783 chr15 65681218 65681218 C T IGDCC4 Nonsynonymous SNV V879M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 191784 chr12 113384711 113384711 T G OAS3 Nonsynonymous SNV V267G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 191785 chr14 93172962 93172962 C T rs771326951 LGMN Nonsynonymous SNV V353I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 191786 chr15 67546961 67546961 A G rs180799838 AAGAB Synonymous SNV A3A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.537 191787 chr3 39374540 39374540 G A rs773432668 CCR8 Nonsynonymous SNV V240M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 191788 chr15 102211751 102211751 A C rs754236158 TARS3 Nonsynonymous SNV H635Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 191789 chr12 121426812 121426812 G A rs377110124 HNF1A Nonsynonymous SNV R168H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 191790 chr12 98909658 98909658 C T rs149067616 TMPO Synonymous SNV L5L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 19.3 191791 chr15 75942053 75942053 A G rs368502863 SNX33 Nonsynonymous SNV M204V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.261 191792 chr3 42599189 42599189 C A rs140677681 SEC22C 0 0 0.007 0 0 0 0 2 0 0 0 0 28.9 191793 chr12 6749628 6749628 A C ACRBP Nonsynonymous SNV L380V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.77 191794 chr18 29493356 29493356 G A TRAPPC8 Synonymous SNV L249L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.366 191795 chr15 80189230 80189230 C A rs200058464 MTHFS Nonsynonymous SNV R34L 0.01 0.013 0.01 1 12 5 0.003 3 0 0 0 0 11.55 191796 chr12 123705981 123705981 T C rs368794022 MPHOSPH9 Synonymous SNV E270E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.089 191797 chr4 121737704 121737704 G A rs190835070 PRDM5 Nonsynonymous SNV R226W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 191798 chr15 24923156 24923156 C T rs146025086 NPAP1 Synonymous SNV A714A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.583 191799 chr15 84558929 84558929 C T rs61754856 ADAMTSL3 Nonsynonymous SNV H381Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 191800 chr15 84651630 84651630 G A rs767615605 ADAMTSL3 Nonsynonymous SNV V1084I 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 1.668 191801 chr4 126369922 126369922 C A rs370451325 FAT4 Nonsynonymous SNV S2586Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 191802 chr3 47030867 47030867 A C rs754766794 NBEAL2 Nonsynonymous SNV S150R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 191803 chr15 34064243 34064243 G T rs200346049 RYR3 Nonsynonymous SNV R2980L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 191804 chr4 129099716 129099716 T C rs760132212 LARP1B Synonymous SNV P325P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.556 191805 chr13 113729440 113729440 G A rs145592732 MCF2L Synonymous SNV A377A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.868 191806 chr15 40247853 40247853 A C rs777058569 EIF2AK4 Nonsynonymous SNV Q209H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.32 191807 chr3 47882369 47882369 T C rs766986833 DHX30 Synonymous SNV G123G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 191808 chr15 41275146 41275146 C A rs371382452 INO80 Nonsynonymous SNV S1456I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 191809 chr12 132395298 132395298 G A rs769057532 ULK1 Nonsynonymous SNV G301S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 191810 chr13 114202692 114202692 G A rs146163909 TMCO3 Nonsynonymous SNV G450R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.03 191811 chr3 48732487 48732487 G A rs758121580 IP6K2 Stop gain R135X 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 191812 chr3 49191225 49191225 C T rs77813979 LAMB2P1 0 0 0.007 0 0 0 0 2 0 0 0 0 14.57 191813 chr15 40703479 40703479 C T rs758187120 IVD Synonymous SNV I129I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 191814 chr3 4940362 4940362 G A rs191395476 BHLHE40-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.753 191815 chr15 40915043 40915043 A T KNL1 Nonsynonymous SNV T861S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.3 191816 chr3 52097101 52097101 C T rs115973139 LINC00696 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 191817 chr15 45051021 45051021 C T rs139044725 TRIM69 Nonsynonymous SNV T57M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.181 191818 chr12 977170 977170 C T rs200794710 WNK1 Nonsynonymous SNV R760C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 16.21 191819 chr3 53531180 53531180 G A CACNA1D Synonymous SNV E23E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 191820 chr15 91016157 91016157 G C rs200740824 IQGAP1 Nonsynonymous SNV R755P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 191821 chr18 6239821 6239821 C T rs147344740 L3MBTL4 Synonymous SNV V201V 0.002 0.008 0.007 1 2 3 0.003 2 0 0 0 0 11.54 191822 chr3 58090893 58090893 G A rs150747960 FLNB Nonsynonymous SNV R566Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Uncertain significance 24 191823 chr13 33330029 33330029 C T rs752728836 PDS5B Synonymous SNV H997H 0.003 0 0 0 4 0 0 0 0 0 0 0 13.7 191824 chr18 67741143 67741143 G A rs200548446 RTTN Nonsynonymous SNV T639M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.72 191825 chr18 6870668 6870668 G A rs140498442 ARHGAP28 Synonymous SNV T138T 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 16.03 191826 chr4 175231002 175231002 A T rs200591484 CEP44 Nonsynonymous SNV D227V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 191827 chr16 1004664 1004664 C A rs753472646 LMF1 Nonsynonymous SNV V66L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.7 191828 chr4 184201996 184202001 AAGAAG - rs750698051 WWC2 E881_E882del 0.002 0 0 0 2 0 0 0 0 0 0 0 191829 chr3 81810645 81810645 C T rs28763906 GBE1 Synonymous SNV A8A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.08 191830 chr3 8672534 8672534 T C rs146804066 SSUH2 Nonsynonymous SNV E161G 0 0.01 0.007 0 0 4 0 2 0 0 0 0 24.4 191831 chr4 184930465 184930465 C T rs185174332 STOX2 Synonymous SNV Y158Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.17 191832 chr13 45589611 45589617 TCCTCCA - GPALPP1 P196Kfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 191833 chr3 9883709 9883709 C T rs144616051 RPUSD3 Nonsynonymous SNV G107E 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 25.6 191834 chr13 52332355 52332355 C T rs369342196 WDFY2 Synonymous SNV D364D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 191835 chr15 64968001 64968001 A G ZNF609 Nonsynonymous SNV Y983C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 191836 chr13 23909470 23909470 G C SACS Nonsynonymous SNV P2702A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 191837 chr15 65456377 65456379 TAA - CLPX L221del 0.002 0 0 0 2 0 0 0 0 0 0 0 191838 chr15 67664986 67664986 C T rs777209863 IQCH Nonsynonymous SNV R179C 0.002 0 0 0 2 0 0 0 0 0 0 0 31 191839 chr13 99109476 99109476 G A rs55953606 STK24 Nonsynonymous SNV A383V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 191840 chr19 10665857 10665857 C G KRI1 Nonsynonymous SNV E563Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 191841 chr5 6737693 6737693 G C rs201401259 TENT4A Nonsynonymous SNV E263Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 191842 chr13 43566136 43566136 - G rs767610322 EPSTI1 Frameshift insertion V56Rfs*24 0 0.003 0 0 0 1 0 0 0 0 0 0 191843 chr16 21109968 21109968 T C DNAH3 Nonsynonymous SNV K784R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 191844 chr16 2120519 2120519 C T rs771078126 TSC2 Synonymous SNV H393H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.248 191845 chr19 11832638 11832638 G A rs772239702 ZNF823 Stop gain R389X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 191846 chr4 126402840 126402840 G A rs143513466 FAT4 Nonsynonymous SNV E4257K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.77 191847 chr15 79760652 79760652 G A rs143794901 MINAR1 Nonsynonymous SNV A893T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 191848 chr5 31435887 31435887 A G rs10039385 DROSHA Synonymous SNV L972L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 8.635 191849 chr4 134071953 134071953 G C rs141457827 PCDH10 Nonsynonymous SNV G220R 0 0 0.014 0 0 0 0 4 0 0 0 0 17.73 191850 chr4 1348931 1348931 T C rs772785894 UVSSA Synonymous SNV G358G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.036 191851 chr5 32087970 32087970 C T rs748858531 PDZD2 Synonymous SNV A1472A 0.001 0 0 0 1 0 0 0 0 0 0 0 13 191852 chr15 83455911 83455911 A G rs932326841 FSD2 Nonsynonymous SNV Y78H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 191853 chr14 105461004 105461004 T C rs201335270 CLBA1 Nonsynonymous SNV C296R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.014 191854 chr5 33944827 33944827 C G rs3733808 SLC45A2 Nonsynonymous SNV V507L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 191855 chr15 85401323 85401323 G A rs375245603 ALPK3 Synonymous SNV A1118A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.634 191856 chr5 35026561 35026561 G A rs766805931 AGXT2 Nonsynonymous SNV T275I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 191857 chr15 89018469 89018469 C T rs561515348 MRPS11 Nonsynonymous SNV A104V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.19 191858 chr5 35857107 35857107 A G rs145097494 IL7R Nonsynonymous SNV M10V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 191859 chr16 29755689 29755689 G A rs981449979 C16orf54 Nonsynonymous SNV P195L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.184 191860 chr14 20813195 20813195 C T PARP2 Nonsynonymous SNV P51S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.52 191861 chr16 30017536 30017536 G C rs202062683 DOC2A Nonsynonymous SNV P392A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 0.002 191862 chr15 89811698 89811698 T C rs142906652 FANCI Nonsynonymous SNV I275T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 191863 chr19 16038104 16038104 C T rs142657300 CYP4F11 Nonsynonymous SNV R148H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 191864 chr16 31475985 31475985 G A rs61732352 ARMC5 Synonymous SNV A547A 0.004 0.008 0.003 4 5 3 0.01 1 0 0 0 0 Benign 7.402 191865 chr14 102700054 102700054 G A rs139034681 MOK Synonymous SNV P116P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.65 191866 chr5 60194107 60194107 G T rs61754098 ERCC8 Nonsynonymous SNV T127K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 191867 chr15 91454441 91454441 C T rs143417684 MAN2A2 Nonsynonymous SNV T639M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 191868 chrX 140993827 140993827 A C rs143392898 MAGEC1 Nonsynonymous SNV I213L 0.002 0.016 0 8 2 6 0.021 0 0 3 0 2 1.784 191869 chr4 177241337 177241337 T C rs766881791 SPCS3 Nonsynonymous SNV V37A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.006 191870 chr15 91549010 91549010 C T rs145303578 VPS33B Nonsynonymous SNV R288Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.7 191871 chr15 99500506 99500506 C T IGF1R Synonymous SNV S1313S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 191872 chr19 17396504 17396504 C T rs747524943 ANKLE1 Synonymous SNV C480C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.47 191873 chr14 24031492 24031495 CTTA - rs766645158 AP1G2 0.002 0 0 0 2 0 0 0 0 0 0 0 191874 chr14 105350218 105350218 A G rs201957243 CEP170B Nonsynonymous SNV K298E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.79 191875 chr5 68581263 68581263 G A rs188393241 CCDC125 Nonsynonymous SNV S318L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.28 191876 chr14 105614696 105614696 C T rs192887377 JAG2 Nonsynonymous SNV D663N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.85 191877 chr4 186544401 186544401 T C rs544237966 SORBS2 Nonsynonymous SNV K628E 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 191878 chr16 14312753 14312753 G A rs143161598 MRTFB Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 191879 chr16 1584282 1584282 C T rs780155461 TMEM204 Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.343 191880 chr14 50081074 50081074 C G rs200336496 LRR1 Stop gain S128X 0.002 0 0 0 2 0 0 0 0 0 0 0 8.557 191881 chr16 57937791 57937791 G A CNGB1 Nonsynonymous SNV P904L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 191882 chr5 78533103 78533103 C G rs774099637 JMY Nonsynonymous SNV D210E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 191883 chr16 19883558 19883558 G A rs746238177 GPRC5B Nonsynonymous SNV L335F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 191884 chr4 40245421 40245421 C T RHOH Synonymous SNV L139L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.465 191885 chr4 436809 436809 T A rs782587258 ZNF721 Nonsynonymous SNV T483S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 191886 chr19 34180181 34180181 C T rs762020676 CHST8 Nonsynonymous SNV P5L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.17 191887 chr16 2129049 2129049 C A rs752248140 TSC2 Nonsynonymous SNV L751I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.54 191888 chr4 47645222 47645222 C T rs374076267 CORIN Nonsynonymous SNV R566H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 191889 chr16 71571658 71571658 C T rs117029243 CHST4 Nonsynonymous SNV R360C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 29.3 191890 chr19 36222922 36222922 A G KMT2B Nonsynonymous SNV S1851G 0 0.005 0 0 0 2 0 0 0 0 0 0 20.9 191891 chr16 2369702 2369702 G A rs146161376 ABCA3 Synonymous SNV I251I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.018 191892 chr16 75258653 75258653 G C rs143327059 CTRB1 Nonsynonymous SNV G183R 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 0.062 191893 chr4 619656 619656 C T rs775472684 PDE6B Nonsynonymous SNV R81W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 191894 chr5 101815888 101815888 T C rs150189521 SLCO6A1 Synonymous SNV G203G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.178 191895 chr19 36831357 36831357 A G ZFP14 Synonymous SNV C458C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.084 191896 chr19 37240620 37240620 C T rs753917060 ZNF850 Nonsynonymous SNV R409Q 0 0.005 0 0 0 2 0 0 0 0 0 0 28.6 191897 chr13 111164291 111164291 C T rs201495557 COL4A2 Nonsynonymous SNV A1631V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 191898 chr16 29884740 29884740 G T SEZ6L2 Nonsynonymous SNV P656Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 191899 chr16 2980675 2980675 A T rs61747746 FLYWCH1 Nonsynonymous SNV E197V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 191900 chr16 30364513 30364513 C T rs758445201 CD2BP2 Nonsynonymous SNV A302T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.262 191901 chr16 30543959 30543959 C T rs751518418 ZNF747 Stop gain W286X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 191902 chr14 73664761 73664761 G T rs150301281 PSEN1 Synonymous SNV P264P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.29 191903 chr4 70713469 70713469 C G rs761102787 SULT1E1 Nonsynonymous SNV E180Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 191904 chr4 72363223 72363223 T C SLC4A4 Synonymous SNV H616H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 191905 chr14 57741561 57741562 AG - rs769559210 AP5M1 Q225Rfs*17 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 191906 chr4 7436508 7436508 C T rs202126632 PSAPL1 Stop gain W33X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 191907 chr16 3362736 3362736 G C ZNF75A Nonsynonymous SNV V222L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.971 191908 chr14 76905837 76905837 G C rs61744548 ESRRB Synonymous SNV L47L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 6.685 191909 chr13 25264609 25264609 G A rs12866274 ATP12A Nonsynonymous SNV R227Q 0.003 0 0 0 4 0 0 0 0 0 0 0 22.2 191910 chr16 3434886 3434886 A T rs150775538 ZSCAN32 Nonsynonymous SNV S57R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.16 191911 chr4 7776718 7776718 A T rs114891425 AFAP1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.622 191912 chr19 40729046 40729046 G A rs976719973 CNTD2 Synonymous SNV G279G 0 0.005 0 0 0 2 0 0 0 0 0 0 3.035 191913 chr4 7941158 7941158 G A LOC389199 Nonsynonymous SNV S89N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 191914 chr13 28880830 28880830 G C rs201402962 FLT1 Nonsynonymous SNV A1267G 0.003 0 0 0 4 0 0 0 0 0 0 0 18.04 191915 chr19 40901408 40901408 C A rs748622767 PRX Nonsynonymous SNV A951S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.04 191916 chr10 123845149 123845149 C T rs143377886 TACC2 Nonsynonymous SNV P1045L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 22.6 191917 chr14 81659072 81659072 C G rs142893489 GTF2A1 Nonsynonymous SNV A242P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 191918 chr16 47627430 47627430 G C PHKB Nonsynonymous SNV C363S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 191919 chr5 136974680 136974680 T C rs746983315 KLHL3 Nonsynonymous SNV D312G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 191920 chr4 85678252 85678252 A C rs150181993 WDFY3 Nonsynonymous SNV C1751G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.5 191921 chr5 139876422 139876422 A G ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV K855E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 191922 chr19 4284802 4284802 A C rs114044357 SHD Nonsynonymous SNV E206A 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 17.95 191923 chr14 74969540 74969540 A T LTBP2 Nonsynonymous SNV D1662E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.117 191924 chr14 75248663 75248663 A G YLPM1 Synonymous SNV P639P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.227 191925 chr14 75509146 75509146 G T rs28757008 MLH3 Nonsynonymous SNV D1105E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 15.41 191926 chr16 89351684 89351684 T A ANKRD11 Synonymous SNV T422T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.407 191927 chr14 94505337 94505337 G A rs770299750 OTUB2 Nonsynonymous SNV R43H 0.005 0 0 0 6 0 0 0 0 0 0 0 30 191928 chr16 55562323 55562323 C T rs368590166 LPCAT2 Nonsynonymous SNV R116C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 191929 chr16 56509973 56509973 A G rs11861138 OGFOD1 Synonymous SNV P457P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.142 191930 chr16 56535386 56535386 G A rs141731677 BBS2 Synonymous SNV N368N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.14 191931 chr5 140237229 140237229 C G PCDHA10 Nonsynonymous SNV F532L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 191932 chr14 77273845 77273845 T C ANGEL1 Nonsynonymous SNV I293V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.83 191933 chr16 56700814 56700814 C T rs750840698 MT1G Nonsynonymous SNV E56K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.33 191934 chr16 56711588 56711588 G A rs886789530 MT1IP 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.461 191935 chr16 56857680 56857680 C T rs35563991 NUP93 Nonsynonymous SNV T116M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.64 191936 chr16 56919216 56919216 A G rs61746763 SLC12A3 Nonsynonymous SNV N622S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.2 191937 chr16 57717983 57717983 C T rs866477766 ADGRG3 Nonsynonymous SNV R221W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 191938 chr16 57951309 57951309 G A rs368329828 CNGB1 Nonsynonymous SNV R671C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 191939 chr5 110454757 110454757 A G rs11956837 WDR36 Nonsynonymous SNV M671V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.73 191940 chr15 101455071 101455071 G A LOC101927751 0.002 0 0 0 2 0 0 0 0 0 0 0 1.276 191941 chr5 145502057 145502057 C G rs760309261 LARS1 Nonsynonymous SNV E1018Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 191942 chr14 92102803 92102803 C T rs764572295 CATSPERB Nonsynonymous SNV G570S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.018 191943 chr16 66976557 66976557 G A rs139982342 CES2 Nonsynonymous SNV R430Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.191 191944 chr5 146658874 146658874 A T rs35852718 STK32A Nonsynonymous SNV K58M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25 191945 chr16 68265946 68265946 C T rs201908706 ESRP2 Nonsynonymous SNV R363Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 191946 chr5 118506129 118506129 G A rs752356768 DMXL1 Nonsynonymous SNV M1881I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 191947 chr5 121786663 121786663 C T rs146249796 SNCAIP Synonymous SNV S303S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 191948 chr5 147695218 147695218 G A rs147014109 SPINK7 Nonsynonymous SNV V77I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 5.686 191949 chr16 70285596 70285596 G T rs951518012 EXOSC6 Synonymous SNV R70R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.195 191950 chr5 148407997 148407997 G A rs200967041 SH3TC2 Nonsynonymous SNV S433L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.33 191951 chr16 71319685 71319685 G T CMTR2 Nonsynonymous SNV P47T 0.003 0 0 0 3 0 0 0 1 0 0 0 25 191952 chr16 72821594 72821596 GCC - rs767179754 ZFHX3 G2613del 0.003 0 0 0 3 0 0 0 1 0 0 0 191953 chr16 72992660 72992660 T G rs143796825 ZFHX3 Nonsynonymous SNV E462A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.468 191954 chr5 150704946 150704946 G A rs142783014 SLC36A2 Nonsynonymous SNV S304F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 13.2 191955 chr12 117187745 117187745 G A rs575954191 RNFT2 Synonymous SNV S61S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 11.83 191956 chr5 136328224 136328224 C G SPOCK1 Nonsynonymous SNV E219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 191957 chr5 136834209 136834209 C T SPOCK1 Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 191958 chr5 150923225 150923225 G A rs146104287 FAT2 Nonsynonymous SNV A2488V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 191959 chr16 81204396 81204396 G A rs200881518 PKD1L2 Synonymous SNV G290G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.08 191960 chr15 42105215 42105215 G A rs148091466 MAPKBP1 Synonymous SNV A245A 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 9.742 191961 chr5 156482230 156482230 A G HAVCR1 Nonsynonymous SNV S121P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 191962 chr16 836116 836116 G A rs148500888 RPUSD1 Nonsynonymous SNV P129L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.157 191963 chr5 157065492 157065492 G A rs138475659 SOX30 Synonymous SNV S542S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.1 191964 chr16 84256411 84256411 G A rs147997404 KCNG4 Synonymous SNV S324S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.36 191965 chr16 84485550 84485550 G A rs200318788 ATP2C2 Nonsynonymous SNV E411K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 22.8 191966 chr5 161300308 161300308 G T rs190024862 GABRA1 Synonymous SNV R147R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.906 191967 chr17 31618703 31618703 G A rs748498914 ASIC2 Nonsynonymous SNV P144L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 191968 chr5 1432662 1432662 C T rs145813384 SLC6A3 Synonymous SNV S190S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 191969 chr15 48559885 48559885 G A rs144177117 SLC12A1 Nonsynonymous SNV R761Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 191970 chr17 33328284 33328284 C T rs140989653 LIG3 Synonymous SNV A780A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.1 191971 chr16 87678514 87678514 G A rs144550250 JPH3 Nonsynonymous SNV G345S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.05 191972 chr5 146763471 146763471 C T rs745935917 STK32A Synonymous SNV N372N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.172 191973 chr5 146798118 146798118 C T rs373398234 DPYSL3 Nonsynonymous SNV G183S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 191974 chr16 88675444 88675444 G T rs149949962 ZC3H18 Synonymous SNV P397P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.992 191975 chr16 88786902 88786902 T G rs1015388049 PIEZO1 Nonsynonymous SNV H1947P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 191976 chr15 56680686 56680686 G A rs145255791 TEX9 Nonsynonymous SNV E19K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 191977 chr5 176918124 176918124 G A PDLIM7 Nonsynonymous SNV P141L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 191978 chr16 88790362 88790362 A G rs147153006 PIEZO1 Nonsynonymous SNV Y1418H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.2 191979 chr15 57839567 57839567 C T rs185690213 CGNL1 Nonsynonymous SNV P1263L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 191980 chr10 69556932 69556932 C T rs373261692 DNAJC12 Nonsynonymous SNV R180H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 191981 chr16 88925112 88925112 A G rs114835271 TRAPPC2L Star tloss D40G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 191982 chr16 89261350 89261350 G A rs150968733 CDH15 Synonymous SNV S744S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.554 191983 chr15 59963399 59963399 A G BNIP2 Synonymous SNV Y177Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.508 191984 chr10 70725160 70725160 T C rs140156514 DDX21 Synonymous SNV L204L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.812 191985 chr15 62274731 62274731 C T rs367661211 VPS13C Synonymous SNV K609K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.56 191986 chr5 153413864 153413866 GAG - FAM114A2 S95del 0 0 0.003 0 0 0 0 1 0 0 0 0 191987 chr15 63908854 63908854 G A rs61751108 HERC1 Synonymous SNV L4572L 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 Benign 13.28 191988 chr5 179225168 179225168 G A rs576648308 MGAT4B Synonymous SNV S555S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.36 191989 chr5 179225360 179225360 G T rs370863172 MGAT4B Synonymous SNV G514G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.06 191990 chr15 64041905 64041905 G C rs137926425 HERC1 Nonsynonymous SNV A663G 0.005 0 0.007 2 6 0 0.005 2 0 0 0 0 19.98 191991 chr5 179326257 179326257 A G TBC1D9B Synonymous SNV L94L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.298 191992 chr5 162869131 162869131 T C rs758110726 CCNG1 Synonymous SNV C92C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.389 191993 chr15 51773137 51773137 T G rs150163605 DMXL2 Synonymous SNV R1420R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 3.243 191994 chr15 55841125 55841125 G A rs147959519 PYGO1 Nonsynonymous SNV R40C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 191995 chr17 39464157 39464157 C T rs188300014 KRTAP16-1 Nonsynonymous SNV R450H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 191996 chr5 171479985 171479985 C G rs55791916 STK10 Nonsynonymous SNV S905T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 191997 chr17 1613125 1613125 C T rs996232337 TLCD2 Nonsynonymous SNV A78T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 191998 chr19 53770694 53770694 G A rs758134532 VN1R4 Synonymous SNV L75L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.108 191999 chr17 1673320 1673320 A T rs373146540 SERPINF1 Nonsynonymous SNV T87S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 192000 chr15 63916429 63916429 C T rs372316431 HERC1 Nonsynonymous SNV R4458H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 192001 chr19 54625261 54625261 G A rs373831294 PRPF31 Synonymous SNV A87A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.749 192002 chr15 64658266 64658266 G A rs373526937 PCLAF Nonsynonymous SNV L46F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 192003 chr17 1782604 1782604 C T rs762437946 RPA1 Synonymous SNV S272S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.66 192004 chr17 39974375 39974375 C T rs782229433 FKBP10 Synonymous SNV F142F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 192005 chr14 56755165 56755165 C T PELI2 Nonsynonymous SNV S107L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192006 chr6 12161940 12161940 G A rs200699671 HIVEP1 Synonymous SNV A2252A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.147 192007 chr17 18155395 18155395 C T FLII Synonymous SNV E334E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 192008 chr15 67938739 67938739 A G rs141385762 MAP2K5 Nonsynonymous SNV Y187C 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 192009 chr15 83455753 83455753 C T rs374039122 FSD2 Synonymous SNV E130E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.24 192010 chr6 24408659 24408659 C T rs34309809 MRS2 Synonymous SNV N96N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.98 192011 chr5 32074615 32074615 G A rs749886581 PDZD2 Nonsynonymous SNV A1135T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 192012 chr17 42942395 42942395 T G rs759178356 EFTUD2 Synonymous SNV L361L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.67 192013 chr5 33614476 33614476 T C rs761106467 ADAMTS12 Synonymous SNV L713L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.844 192014 chr17 45820443 45820443 G A rs202150196 TBX21 Nonsynonymous SNV R218H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 31 192015 chr5 37480026 37480026 T C rs148015632 WDR70 Synonymous SNV D237D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.593 192016 chr15 75967900 75967900 G A CSPG4 Synonymous SNV Y2320Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.177 192017 chr5 38959420 38959420 G A rs76264043 RICTOR Synonymous SNV L685L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.54 192018 chr17 26817447 26817447 G A rs11568465 SLC13A2 Synonymous SNV P118P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.268 192019 chr14 73712244 73712244 A T rs549528634 LOC101928123 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.3 192020 chr15 81274339 81274339 G A rs778164192 MESD Nonsynonymous SNV T133M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 192021 chr17 30692420 30692420 A G rs200005887 ZNF207 Nonsynonymous SNV I232V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.741 192022 chr5 56178629 56178629 C A rs935250084 MAP3K1 Nonsynonymous SNV A1201D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 192023 chr19 57723278 57723278 G A rs146985967 ZNF264 Synonymous SNV K271K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 10.72 192024 chr5 56778377 56778377 C T rs768638557 ACTBL2 Nonsynonymous SNV C53Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.49 192025 chr5 57752328 57752328 C T rs141029220 PLK2 Synonymous SNV R415R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 17.07 192026 chr5 60200670 60200670 C T rs192695896 ERCC8 Nonsynonymous SNV V144I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.02 192027 chr19 5783840 5783840 G C rs576156353 PRR22 Nonsynonymous SNV P140A 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.059 192028 chr17 33457308 33457308 C T FNDC8 Nonsynonymous SNV T277I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 192029 chr5 66084509 66084509 C G rs753471629 MAST4 Nonsynonymous SNV L177V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 192030 chr16 105520 105520 G A rs201881579 SNRNP25 Nonsynonymous SNV R35Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 192031 chr16 10641406 10641406 G A rs773968775 EMP2 Synonymous SNV T23T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 192032 chr19 58864810 58864810 C T rs201603704 A1BG-AS1 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.477 192033 chr17 35518873 35518873 C T ACACA Nonsynonymous SNV R1629Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 192034 chr6 41555570 41555570 C T rs544742930 FOXP4 Synonymous SNV Y304Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.753 192035 chr5 76760620 76760620 C T rs389319 WDR41 Nonsynonymous SNV G61D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 192036 chr17 56772493 56772493 C T RAD51C Nonsynonymous SNV P116L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.4 192037 chr19 6731221 6731221 A G GPR108 Nonsynonymous SNV W475R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 192038 chr11 105009706 105009706 C A rs758621115 CARD18 Nonsynonymous SNV S36I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.5 192039 chr5 79031215 79031215 C T rs199941925 CMYA5 Synonymous SNV S2209S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 192040 chr11 108018047 108018047 G C ACAT1 Nonsynonymous SNV G405A 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 192041 chr17 38142955 38142955 G A rs142347522 PSMD3 Nonsynonymous SNV R180H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 192042 chr19 7535127 7535127 G A rs535617091 ARHGEF18 Synonymous SNV P1101P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.982 192043 chr17 38251358 38251358 T C rs140172310 NR1D1 Nonsynonymous SNV M422V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.125 192044 chr16 20352532 20352532 G A rs141800038 UMOD Synonymous SNV Y486Y 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 Benign 9.345 192045 chr12 6495275 6495275 C T rs2364480 LTBR Synonymous SNV A153A 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 192046 chr5 96126289 96126289 C G rs771994807 ERAP1 Nonsynonymous SNV G460R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 192047 chr6 52849342 52849342 A G rs45507994 GSTA4 Synonymous SNV L112L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Benign 9.582 192048 chr16 2079617 2079617 C G SLC9A3R2 Nonsynonymous SNV T83S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 192049 chr17 39394576 39394576 T C rs750844597 KRTAP9-8 Synonymous SNV G91G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 192050 chr6 10557437 10557437 G T GCNT2 Nonsynonymous SNV G261C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.93 192051 chr6 107390824 107390824 C T BEND3 Nonsynonymous SNV R524H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 192052 chr6 10784785 10784785 G A MAK Nonsynonymous SNV S446L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.675 192053 chr16 22320335 22320335 C T rs758104553 POLR3E Synonymous SNV C49C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 192054 chr6 109090258 109090258 A G rs535615016 LINC00222 0 0 0.003 0 0 0 0 1 0 0 0 0 2.961 192055 chr17 39620587 39620587 C T rs141728288 KRT32 Nonsynonymous SNV E273K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192056 chr16 2286914 2286914 G T DNASE1L2 Nonsynonymous SNV G33C 0.002 0 0 0 2 0 0 0 0 0 0 0 25 192057 chr6 109233596 109233596 A G rs140019988 ARMC2 Synonymous SNV L230L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.526 192058 chr6 109415001 109415001 G A rs751802608 SESN1 Synonymous SNV I92I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 192059 chr6 69943295 69943295 A G rs541023902 ADGRB3 Nonsynonymous SNV Q865R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 192060 chr6 110679439 110679439 C T rs749824096 METTL24 Nonsynonymous SNV V13I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 192061 chr15 33954722 33954722 G C rs762176717 RYR3 Nonsynonymous SNV G1664A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.129 192062 chr6 74079072 74079072 G A rs200095208 OOEP Nonsynonymous SNV T76M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.134 192063 chr6 75899493 75899493 C T rs750624029 COL12A1 Nonsynonymous SNV V145M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 192064 chr17 41570165 41570165 G A rs148649301 DHX8 Nonsynonymous SNV R116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 192065 chr17 42453084 42453084 C T rs74988902 ITGA2B Nonsynonymous SNV V868M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 19.45 192066 chr6 128304438 128304438 G A rs148515358 PTPRK Synonymous SNV Y1111Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.563 192067 chr6 129513850 129513850 T A rs118083923 LAMA2 Nonsynonymous SNV L545Q 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 192068 chr6 88854954 88854954 G A rs781222994 CNR1 Nonsynonymous SNV R14C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 192069 chr16 31499712 31499739 GCGTGCGTGGTGCCTGAGGTGTGCAGGC - rs749611518 SLC5A2 V346Afs*17 0.003 0 0 2 3 0 0.005 0 0 0 0 0 192070 chr17 43333031 43333031 C T rs145477278 SPATA32 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.489 192071 chr6 136590727 136590727 G C rs974576408 BCLAF1 Nonsynonymous SNV D687E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 192072 chr16 2578297 2578297 C T rs146802053 AMDHD2 Nonsynonymous SNV R260C 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 26.2 192073 chr17 45369820 45369820 G C rs138793107 ITGB3 Nonsynonymous SNV E526Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 192074 chr16 3647684 3647684 C T rs369994733 SLX4 Nonsynonymous SNV R460H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.5 192075 chr16 4408012 4408012 C T rs149619313 CORO7, CORO7-PAM16 Synonymous SNV G765G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.971 192076 chr17 7750186 7750186 - ACCACC KDM6B P264_L265insPP 0.007 0.005 0 4 8 2 0.01 0 0 0 0 0 192077 chr6 150386783 150386783 A G rs200023001 ULBP3 Nonsynonymous SNV S127P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 192078 chr15 51975566 51975566 C G rs150705817 SCG3 Nonsynonymous SNV T111S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.4 192079 chr6 111689061 111689061 T C REV3L Nonsynonymous SNV N1977S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.134 192080 chr6 158093884 158093884 G A rs781434657 ZDHHC14 Synonymous SNV T399T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 192081 chr6 117609759 117609759 C A rs771164515 ROS1 Nonsynonymous SNV D2314Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 192082 chr1 11307731 11307731 G A rs780396070 MTOR Synonymous SNV I392I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.26 192083 chr6 118880111 118880111 C T rs145623013 PLN Synonymous SNV R9R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 192084 chr1 1132989 1132989 C - TTLL10 S596Pfs*108 0 0.003 0 0 0 1 0 0 0 0 0 0 192085 chr11 134080228 134080228 C T rs200474426 NCAPD3 Nonsynonymous SNV S30N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.687 192086 chr13 114531664 114531664 C T rs375788560 GAS6 Synonymous SNV A388A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.57 192087 chr17 79655805 79655805 C T rs142636777 HGS Synonymous SNV N121N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.97 192088 chr1 117568184 117568184 A C CD101 Synonymous SNV R828R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.412 192089 chr6 129813175 129813175 T C rs35313209 LAMA2 Synonymous SNV N2672N 0.008 0.01 0.007 1 9 4 0.003 2 0 0 0 0 Benign 10.42 192090 chr16 4743793 4743793 G A rs2291407 NUDT16L1 Synonymous SNV P22P 0 0.003 0.01 0 0 1 0 3 0 0 0 0 8.297 192091 chr16 4787935 4787935 G C rs17137215 C16orf71 Nonsynonymous SNV E88D 0.006 0.003 0.003 0 7 1 0 1 1 0 0 0 0.405 192092 chr6 166401464 166401464 - GT rs149079607 LINC00473, LINC00602 0 0 0.014 0 0 0 0 4 0 0 0 0 192093 chr17 61843418 61843418 C T rs36034985 CCDC47 Nonsynonymous SNV A40T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 33 192094 chr16 49670528 49670528 T C ZNF423 Synonymous SNV V728V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.014 192095 chr6 168465691 168465691 C T rs199740559 FRMD1 Nonsynonymous SNV V102M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.5 192096 chr17 62050148 62050148 G A rs775998468 SCN4A Synonymous SNV R18R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.267 192097 chr16 50741858 50741858 C T rs5743269 NOD2 Synonymous SNV A184A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.1 192098 chr6 169008863 169008863 C T rs369851366 SMOC2 Nonsynonymous SNV T284M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 192099 chr17 8638809 8638809 G A rs149912256 CCDC42 Nonsynonymous SNV R205C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 192100 chr1 12405448 12405448 G A rs750000898 VPS13D Nonsynonymous SNV R2943Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.9 192101 chr6 17600785 17600802 GCCCCGGGCCGGCCCACA - rs772412986 FAM8A1 R52_G57del 0 0 0.003 0 0 0 0 1 0 0 0 0 192102 chr18 12274238 12274238 C T rs143526030 CIDEA Synonymous SNV Y159Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.83 192103 chr6 17856355 17856355 - A rs778250669 KIF13A 0 0 0.003 0 0 0 0 1 0 0 0 0 192104 chr1 145534905 145534905 C T ITGA10 Nonsynonymous SNV S460F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 192105 chr1 145536012 145536012 G A rs35515885 ITGA10 Nonsynonymous SNV A559T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 24.9 192106 chr6 151673562 151673562 A G rs760975535 AKAP12 Nonsynonymous SNV T1241A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 192107 chr16 81045684 81045684 C A rs896034091 CENPN Nonsynonymous SNV S47Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.843 192108 chr16 58713997 58713997 C T rs768740768 SLC38A7 Nonsynonymous SNV E12K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 192109 chr13 49085967 49085967 T C rs73479239 RCBTB2 Nonsynonymous SNV T15A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.585 192110 chr13 49771925 49771925 G A rs147177134 FNDC3A Nonsynonymous SNV S746N 0.003 0 0 0 3 0 0 0 0 0 0 0 19.28 192111 chr11 294616 294616 C T rs542400746 PGGHG Nonsynonymous SNV P694L 0 0 0 5 0 0 0.013 0 0 0 0 0 22.2 192112 chr1 151491474 151491474 C T rs747961301 CGN Nonsynonymous SNV A160V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.15 192113 chr6 157099425 157099425 - GC rs587779743 ARID1B Frameshift insertion Q122Hfs*59 0.002 0.005 0 0 2 2 0 0 0 0 0 0 192114 chr6 157099426 157099426 - G ARID1B Frameshift insertion Q122Afs*110 0.002 0.003 0 0 2 1 0 0 0 0 0 0 192115 chr6 158449860 158449860 T G SYNJ2 Nonsynonymous SNV I96S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 192116 chr1 152328447 152328447 G A rs138495442 FLG2 Synonymous SNV G605G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.028 192117 chr17 73269148 73269148 G A rs192494814 LOC100287042 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 1.381 192118 chr6 33636890 33636890 C T rs140973588 ITPR3 Nonsynonymous SNV R716W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 192119 chr6 160328484 160328484 T C rs201189349 MAS1 Nonsynonymous SNV M166T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.82 192120 chr1 155032780 155032780 A T ADAM15 Nonsynonymous SNV Q733L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 192121 chr17 73898187 73898187 C T rs370578614 MRPL38 Nonsynonymous SNV R99Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 192122 chr16 77326991 77326991 G A rs187998780 ADAMTS18 Synonymous SNV V885V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.56 192123 chr6 35755737 35755737 C T rs766871176 CLPSL1 Nonsynonymous SNV R106C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.28 192124 chr16 81298283 81298283 G A rs149029789 BCO1 Synonymous SNV T170T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 11.52 192125 chr6 169051419 169051419 G A rs147637517 SMOC2 Synonymous SNV T322T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 12.56 192126 chr1 156594258 156594258 G A rs148744711 HAPLN2 Synonymous SNV Q185Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.407 192127 chr7 1484970 1484970 C T rs201639803 MICALL2 Nonsynonymous SNV A246T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 192128 chr17 78013901 78013901 A G rs375586063 CCDC40 Synonymous SNV A128A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.218 192129 chr17 10397687 10397687 C T rs142153967 MYH1 Nonsynonymous SNV R1884K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 192130 chr16 87744880 87744880 G A rs150687605 KLHDC4 Synonymous SNV Y278Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.905 192131 chr16 88502130 88502130 C T rs376638940 ZNF469 Nonsynonymous SNV S2751L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.046 192132 chr16 88601359 88601359 C T rs753287725 ZFPM1 Nonsynonymous SNV S998F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 192133 chr7 7476036 7476036 C T rs199859219 COL28A1 Nonsynonymous SNV R617Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 192134 chr17 80203891 80203891 C T rs150652834 CSNK1D Nonsynonymous SNV G408S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 192135 chr17 80445845 80445845 G A NARF Nonsynonymous SNV A347T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 192136 chr17 18067143 18067143 A T MYO15A Nonsynonymous SNV T3260S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 192137 chr7 21784171 21784171 A T rs760372952 DNAH11 Nonsynonymous SNV D2757V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.5 192138 chr18 9588761 9588761 G A rs765217530 PPP4R1 Nonsynonymous SNV S129L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 192139 chr1 169199972 169199972 C A rs763360558 NME7 Nonsynonymous SNV C325F 0 0.003 0 0 0 1 0 0 0 0 0 0 34 192140 chr17 10366904 10366904 A G rs370682652 MYH4 Synonymous SNV N235N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.249 192141 chr17 10451151 10451151 A G rs148217318 MYH2 Synonymous SNV N29N 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.615 192142 chr1 169510755 169510755 G A rs761327465 F5 Synonymous SNV S1191S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.934 192143 chr17 8814726 8814726 C T rs200390122 PIK3R5 Nonsynonymous SNV R29H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.36 192144 chr7 31117634 31117634 G A rs146852802 ADCYAP1R1 Synonymous SNV T62T 0.007 0.008 0.003 0 8 3 0 1 0 0 0 0 Benign 12.33 192145 chr6 7727597 7727597 C A rs747427445 BMP6 Nonsynonymous SNV L137M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.2 192146 chr18 10794941 10794941 A G rs988459454 PIEZO2 Synonymous SNV T529T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.416 192147 chr19 10446010 10446010 - G rs765041704 ICAM3 Frameshift insertion R147Afs*90 0 0.003 0 0 0 1 0 0 0 0 0 0 192148 chr14 38092165 38092165 T C TTC6 Nonsynonymous SNV L315P 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 192149 chr1 17331268 17331268 C T rs140631323 ATP13A2 Synonymous SNV A132A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.96 192150 chr6 86333774 86333774 G C SYNCRIP Synonymous SNV A143A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.082 192151 chr18 14124354 14124354 G C rs201198742 ZNF519 Nonsynonymous SNV S42C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.22 192152 chr19 1122945 1122945 T A SBNO2 Nonsynonymous SNV D186V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 192153 chr16 3063509 3063509 G A CLDN9 Nonsynonymous SNV G49D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 192154 chr18 28934341 28934341 T G rs766954423 DSG1 Nonsynonymous SNV S728A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 192155 chr17 3119745 3119745 G A rs144381897 OR1A1 Synonymous SNV T277T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.92 192156 chr16 31049963 31049963 A C rs371244325 STX4 Nonsynonymous SNV M155L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.2 192157 chr18 2750459 2750459 T G rs780548113 SMCHD1 Synonymous SNV V1373V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.24 192158 chr16 31539927 31539927 A T rs75782426 AHSP Nonsynonymous SNV N75I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 7.994 192159 chr7 45144048 45144048 G A SNORA5A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.322 192160 chr1 1849852 1849852 G A rs148427511 TMEM52 Synonymous SNV V63V 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 3.406 192161 chr7 100550869 100550869 G A rs62483692 MUC3A Nonsynonymous SNV A484T 0 0 0.027 0 0 0 0 8 0 0 0 0 5.865 192162 chr7 100550873 100550873 G C rs74836112 MUC3A Nonsynonymous SNV R485P 0 0 0.027 0 0 0 0 8 0 0 0 0 3.36 192163 chr7 56170580 56170580 T C rs756808726 CHCHD2 Nonsynonymous SNV K142R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 192164 chr14 69522062 69522062 G A rs10134594 DCAF5 Synonymous SNV H446H 0.002 0 0 0 2 0 0 0 0 0 0 0 2.404 192165 chr14 69925231 69925231 G C rs2232061 SLC39A9 Nonsynonymous SNV G259A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.76 192166 chr7 73477983 73477983 G A rs34852121 ELN Nonsynonymous SNV G570R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.03 192167 chr19 17303737 17303737 G A rs753648699 MYO9B Synonymous SNV A998A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.889 192168 chr7 75614942 75614942 G A rs781850299 POR Nonsynonymous SNV E482K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 192169 chr19 17571643 17571643 G T rs147394576 NXNL1 Synonymous SNV R12R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.036 192170 chr18 66348303 66348303 T C TMX3 Nonsynonymous SNV Q176R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 192171 chr7 107198475 107198475 T C COG5 Synonymous SNV Q91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.392 192172 chr17 3595005 3595005 G A rs144771900 P2RX5 Nonsynonymous SNV A74V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 192173 chr1 202850302 202850302 T G rs756339996 RABIF Nonsynonymous SNV N59T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.139 192174 chr17 36614485 36614485 C T rs151011696 ARHGAP23 Nonsynonymous SNV S68L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 192175 chr7 123257705 123257705 G A rs371457160 ASB15 Nonsynonymous SNV G122D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.88 192176 chr7 93090257 93090257 C T rs143764918 CALCR Nonsynonymous SNV S175N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.9 192177 chr18 7231315 7231315 T C rs888371028 LRRC30 Nonsynonymous SNV M60T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 192178 chr7 94055094 94055094 C T rs141516754 COL1A2 Synonymous SNV P956P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.04 192179 chr18 72343292 72343292 T A rs200523805 ZNF407 Nonsynonymous SNV I106N 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 Likely benign 10.11 192180 chr7 128484977 128484977 T G rs138663492 FLNC Nonsynonymous SNV F1153C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 192181 chr11 60886777 60886777 G A rs139828128 CD5 Nonsynonymous SNV G122S 0.007 0.005 0.003 3 8 2 0.008 1 0 0 0 0 26.7 192182 chr7 128506627 128506627 C T rs145085553 ATP6V1FNB Nonsynonymous SNV T55I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 192183 chr17 40762193 40762193 G A rs397806361 TUBG1 Synonymous SNV E39E 0.003 0 0 0 3 0 0 0 0 0 0 0 10.88 192184 chr11 614332 614332 G A IRF7 Nonsynonymous SNV A187V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.253 192185 chr7 100282229 100282229 C T rs201403082 GIGYF1 Synonymous SNV T491T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 192186 chr7 100410814 100410814 G A rs778634363 EPHB4 Synonymous SNV I591I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 192187 chr7 135310007 135310007 C T rs143069117 NUP205 Synonymous SNV L1167L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.53 192188 chr1 209796986 209796986 T G LAMB3 Nonsynonymous SNV Q741P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.7 192189 chr19 2396636 2396636 G A TMPRSS9 Nonsynonymous SNV R81H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 192190 chr11 62414633 62414633 G C rs759233778 INTS5 Nonsynonymous SNV F973L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 25.6 192191 chr16 74525013 74525013 C G GLG1 Synonymous SNV R434R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 192192 chr17 42992542 42992542 G A rs139838162 GFAP Nonsynonymous SNV R105W 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 32 192193 chr19 311911 311911 C T rs117010939 MIER2 Synonymous SNV E270E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.71 192194 chr19 3207401 3207401 C T rs752818563 NCLN Synonymous SNV A521A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.32 192195 chr19 11488727 11488727 T C rs62638745 EPOR Nonsynonymous SNV N487S 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 Benign 23.4 192196 chr7 142609710 142609710 C T rs144202979 TRPV5 Nonsynonymous SNV A576T 0 0 0.003 0 0 0 0 1 0 0 0 0 35 192197 chr7 142760026 142760026 C T rs369129422 OR6W1P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.203 192198 chr19 12766516 12766516 C T rs145062583 MAN2B1 Nonsynonymous SNV E608K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.2 192199 chr17 39974511 39974511 G A rs201861640 FKBP10 Nonsynonymous SNV G188S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 192200 chr19 13345827 13345827 G A rs758409135 CACNA1A Synonymous SNV D1720D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.6 192201 chr19 1376567 1376567 C T rs149769533 PWWP3A Nonsynonymous SNV R641C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.8 192202 chr11 64606298 64606298 C A rs370408295 CDC42BPG Nonsynonymous SNV R318L 0 0 0 4 0 0 0.01 0 0 0 0 0 23 192203 chr17 48264131 48264131 G A rs141219921 COL1A1 Synonymous SNV D1228D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 192204 chr7 148638628 148638628 - C rs1031661126 RNY5 0 0 0.003 0 0 0 0 1 0 0 0 0 192205 chr17 40948259 40948259 A G rs932489423 WNK4 Nonsynonymous SNV S848G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.48 192206 chr19 12127479 12127479 A G rs369162478 ZNF433 Nonsynonymous SNV I68T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 192207 chr19 12383278 12383278 T C ZNF44 Nonsynonymous SNV S566G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.36 192208 chr1 222761815 222761815 G A TAF1A Nonsynonymous SNV P31S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.9 192209 chr7 149576587 149576587 C T rs201122380 ATP6V0E2 Stop gain Q155X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.2 192210 chr17 4893461 4893461 A G rs79831737 INCA1 Synonymous SNV L48L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.239 192211 chr17 4905377 4905377 C A rs138692366 KIF1C Synonymous SNV R129R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 21.8 192212 chr19 13033649 13033649 G A FARSA Synonymous SNV H480H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.257 192213 chr1 224415231 224415231 C T rs375953632 LOC101927164 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.211 192214 chr17 42756275 42756275 C T rs201556465 CCDC43 Synonymous SNV E208E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.42 192215 chr7 150217080 150217080 C T rs529928390 GIMAP7 Synonymous SNV D6D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.693 192216 chr19 3633464 3633464 G A rs34633286 PIP5K1C Nonsynonymous SNV P659S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 16.54 192217 chr7 151079054 151079054 G A rs116376908 WDR86 Nonsynonymous SNV A119V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.67 192218 chr1 226352599 226352599 T C rs143911859 ACBD3 Nonsynonymous SNV K154E 0.003 0.01 0.007 5 4 4 0.013 2 0 0 0 0 27.7 192219 chr11 66411584 66411584 C T rs748641513 RBM14-RBM4, RBM4 Nonsynonymous SNV A334V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 192220 chr17 55183293 55183293 A C rs202033264 AKAP1 Synonymous SNV L156L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.047 192221 chr7 102985058 102985058 C T rs137979671 DNAJC2 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 192222 chr7 103841368 103841368 T C rs758910659 ORC5 Synonymous SNV T68T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.367 192223 chr1 228285645 228285645 C T rs61737797 ARF1 Synonymous SNV C159C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.49 192224 chr1 228295523 228295523 C T rs74140967 MRPL55 Nonsynonymous SNV R25H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.006 192225 chr17 56349122 56349122 T G rs112737382 MPO Nonsynonymous SNV I642L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.4 192226 chr1 228295944 228295944 G A rs140859182 MRPL55 Synonymous SNV S6S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.257 192227 chr1 228336416 228336416 C T rs182734829 GUK1 Nonsynonymous SNV R197W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.2 192228 chr1 228336518 228336518 A G rs15109 GUK1 Nonsynonymous SNV R231G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.023 192229 chr1 228345606 228345606 C T rs139992251 GJC2 Synonymous SNV D49D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 13.41 192230 chr7 105615475 105615475 T A rs370097298 CDHR3 Nonsynonymous SNV S78T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.48 192231 chr1 228345987 228345987 G A rs201796910 GJC2 Synonymous SNV E176E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.012 192232 chr7 105672877 105672877 G T rs140818720 CDHR3 Nonsynonymous SNV A710S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 192233 chr1 228403334 228403334 C T rs193175485 OBSCN Synonymous SNV S633S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 13.52 192234 chr1 228447221 228447221 T C rs187817295 OBSCN Synonymous SNV A1627A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.269 192235 chr1 228451836 228451836 C T rs118114493 OBSCN Synonymous SNV A1535A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.83 192236 chr1 228462332 228462332 G A rs12023551 OBSCN Nonsynonymous SNV E1915K 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 23.2 192237 chr17 47219534 47219534 G A rs200147969 B4GALNT2 Nonsynonymous SNV R118K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 192238 chr15 44962165 44962165 C T PATL2 Nonsynonymous SNV V71M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 192239 chr1 228464316 228464316 C G rs142776685 OBSCN Nonsynonymous SNV P2129R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 15.87 192240 chr17 47924449 47924449 A G rs200699277 FLJ45513 0 0.003 0 0 0 1 0 0 0 0 0 0 5.293 192241 chr1 228468069 228468069 G A rs56384735 OBSCN Nonsynonymous SNV S2618N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.792 192242 chr7 112095898 112095898 G A rs139029166 IFRD1 Nonsynonymous SNV D9N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 192243 chr17 48252710 48252710 C A rs146924667 SGCA Nonsynonymous SNV T235N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 29 192244 chr1 228503679 228503679 A G rs183406337 OBSCN Nonsynonymous SNV T4382A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 20.4 192245 chr17 4836279 4836279 G A rs749454966 GP1BA Nonsynonymous SNV R127Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.194 192246 chr1 228509610 228509610 C T rs182318410 OBSCN Nonsynonymous SNV P5023L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 17.15 192247 chr1 228509733 228509733 C T rs56359770 OBSCN Nonsynonymous SNV A5064V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 11.31 192248 chr7 117180327 117180327 T A rs142920240 CFTR Nonsynonymous SNV M348K 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 192249 chr1 228528523 228528523 G A rs191140144 OBSCN Synonymous SNV K5877K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 10.91 192250 chr15 48577446 48577446 G C SLC12A1 Nonsynonymous SNV D877H 0.003 0 0 0 4 0 0 0 0 0 0 0 15.65 192251 chr1 228555596 228555596 C T rs369407921 OBSCN Synonymous SNV S6546S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 11.99 192252 chr1 228555619 228555619 A T rs200436705 OBSCN Nonsynonymous SNV Y6554F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 4.297 192253 chr1 228559797 228559797 T C rs190289766 OBSCN Synonymous SNV P7106P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.011 192254 chr1 228559933 228559933 A T rs186684024 OBSCN Nonsynonymous SNV T7152S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.002 192255 chr7 120978966 120978966 G A rs750367164 WNT16 Nonsynonymous SNV R212H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 192256 chr1 228560034 228560034 C T rs36119328 OBSCN Synonymous SNV Y7185Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 8.045 192257 chr1 228560289 228560289 A G rs184132520 OBSCN Synonymous SNV P7270P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.626 192258 chr1 228564777 228564777 A G rs55846741 OBSCN Synonymous SNV Q7688Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.937 192259 chr1 228566387 228566387 G A rs200919408 OBSCN Nonsynonymous SNV R7933Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 17.46 192260 chr1 228596802 228596802 G C rs201251938 TRIM17 Synonymous SNV A318A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.754 192261 chr7 2472775 2472775 C T CHST12 Synonymous SNV Y167Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.148 192262 chr17 65683192 65683192 G A PITPNC1 Nonsynonymous SNV M231I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 192263 chr19 19611937 19611937 G A rs768623780 GATAD2A Nonsynonymous SNV M405I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.52 192264 chr19 19740976 19740976 C A rs112932461 GMIP Synonymous SNV V874V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.84 192265 chr17 72240182 72240182 G A rs143670144 TTYH2 Synonymous SNV A245A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.36 192266 chr11 82985772 82985772 T C rs925635136 CCDC90B Synonymous SNV V14V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.697 192267 chr7 44556492 44556492 G A NPC1L1 Nonsynonymous SNV P1110L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 192268 chr11 85411637 85411637 C G SYTL2 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 26.7 192269 chr17 73491441 73491441 G A rs147271273 TMEM94 Synonymous SNV T945T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.44 192270 chr17 7350248 7350248 G A rs149433073 CHRNB1 Nonsynonymous SNV V114M 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 29.3 192271 chr19 44635374 44635375 CT - rs761340919 ZNF225 Stop gain Y204* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 192272 chr19 44677077 44677077 G A rs143030063 ZNF226 Synonymous SNV T69T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.776 192273 chr17 73627632 73627632 C T rs372347188 RECQL5 Nonsynonymous SNV R449H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.79 192274 chr17 2577462 2577462 A G rs150380620 PAFAH1B1 Synonymous SNV V260V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 7.308 192275 chr12 1005522 1005522 C T rs201766777 WNK1 Nonsynonymous SNV R1709C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign/Likely benign 35 192276 chr17 72699265 72699265 T C rs187797341 CD300LF Nonsynonymous SNV T134A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 6.2 192277 chr19 45316853 45316853 C T BCAM Nonsynonymous SNV P254S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.437 192278 chr7 150555982 150555982 C T rs200258999 AOC1 Nonsynonymous SNV R568C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 192279 chr19 45448131 45448131 G A rs758859455 APOC4 Nonsynonymous SNV G68R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.062 192280 chr17 76046099 76046099 G A rs772857130 TNRC6C Nonsynonymous SNV G319D 0.002 0 0 0 2 0 0 0 0 0 0 0 19.29 192281 chr19 45648807 45648807 G T PPP1R37 Nonsynonymous SNV S498I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.41 192282 chr12 104147083 104147083 C T rs139125034 STAB2 Synonymous SNV N2222N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 8.725 192283 chr7 75959173 75959173 G A rs111385409 YWHAG Synonymous SNV S155S 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 9.029 192284 chr15 85341965 85341965 C T ZNF592 Synonymous SNV G961G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.14 192285 chr1 2560864 2560864 C T MMEL1 Synonymous SNV K20K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.427 192286 chr7 86548611 86548611 C T rs35444296 KIAA1324L Nonsynonymous SNV G232E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 192287 chr1 26315943 26315943 C A rs141767277 PAFAH2 Synonymous SNV A80A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 1 21.9 192288 chr7 157396740 157396740 G A rs146720941 PTPRN2 Nonsynonymous SNV A753V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.874 192289 chr17 73824983 73824983 G A rs201238621 UNC13D Synonymous SNV D1012D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.271 192290 chr19 47570123 47570123 G A rs376087151 ZC3H4 Synonymous SNV G1134G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.243 192291 chr8 401393 401393 T A rs769666062 FBXO25 Synonymous SNV I133I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.73 192292 chr17 74005454 74005454 T G EVPL Nonsynonymous SNV N1300H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 192293 chr17 78261970 78261970 C T rs762347582 RNF213 Synonymous SNV D206D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.45 192294 chr17 7417430 7417430 C T POLR2A Synonymous SNV P1949P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.609 192295 chr8 2831975 2831975 G A rs760750981 CSMD1 Nonsynonymous SNV T2913I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 192296 chr7 97841679 97841679 A T rs770356896 BHLHA15 Nonsynonymous SNV T20S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 192297 chr8 101252866 101252866 T C SPAG1 Nonsynonymous SNV M839T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 192298 chr8 102731585 102731585 T C NCALD Synonymous SNV V91V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.917 192299 chr8 8749881 8749881 T G MFHAS1 Nonsynonymous SNV K230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 192300 chr17 79972966 79972966 C T rs371051697 ASPSCR1 Nonsynonymous SNV R457W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 192301 chr8 10480544 10480544 G T rs187433303 RP1L1 Synonymous SNV R56R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.29 192302 chr1 38305630 38305630 G A rs1026097146 MTF1 Synonymous SNV D203D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.626 192303 chr17 77076301 77076301 C G rs373453465 ENGASE Nonsynonymous SNV T193R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 192304 chr19 50139950 50139950 G A rs145907892 RRAS Synonymous SNV L127L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.21 192305 chr1 38463148 38463148 G C rs145496383 FHL3 Nonsynonymous SNV L150V 0.004 0.008 0.01 0 5 3 0 3 0 0 0 0 26.8 192306 chr19 40929228 40929228 G A rs768979696 SERTAD1 Nonsynonymous SNV R76C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 192307 chr17 77808295 77808295 G A CBX4 Synonymous SNV H382H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 192308 chr17 78064145 78064145 - CCC CCDC40 T1013_R1014insT 0 0.003 0 1 0 1 0.003 0 0 0 0 0 192309 chr8 121466092 121466092 A G rs141824798 MTBP Nonsynonymous SNV Y144C 0.003 0 0.01 0 4 0 0 3 1 0 0 0 Benign 23.1 192310 chr19 51519151 51519151 C T KLK10 Synonymous SNV T177T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.89 192311 chr19 42853662 42853662 G T rs991262039 MEGF8 Synonymous SNV G703G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.244 192312 chr19 4283173 4283173 C T rs200550741 SHD Nonsynonymous SNV R176W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192313 chr19 43025666 43025666 C T rs766165584 CEACAM1 Synonymous SNV P237P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.49 192314 chr17 79914623 79914623 G A rs151285733 NOTUM Synonymous SNV Y297Y 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.128 192315 chr19 44418475 44418475 C T rs151124285 ZNF45 Synonymous SNV V371V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.97 192316 chr19 52249641 52249641 T C rs150239733 FPR1 Nonsynonymous SNV I203V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.12 192317 chr19 52399746 52399746 T G rs79978148 ZNF649 Nonsynonymous SNV I73L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.256 192318 chr19 52497833 52497833 A G rs79055311 ZNF615 Nonsynonymous SNV F171L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 192319 chr8 144733650 144733654 ATAAA - rs202122969 ZNF623 L536L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 192320 chr18 3255811 3255811 A G rs766715707 MYL12A Synonymous SNV E137E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 192321 chr18 33779655 33779655 G A rs149639104 MOCOS Synonymous SNV A103A 0.009 0.003 0 3 10 1 0.008 0 0 0 0 1 Benign 10.35 192322 chr8 144885597 144885597 G C rs142612681 SCRIB Nonsynonymous SNV L1187V 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 19.74 192323 chr19 53618527 53618527 G A ZNF415 Synonymous SNV C36C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.752 192324 chr8 144997311 144997311 C T rs373922545 PLEC Synonymous SNV T2248T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.738 192325 chr19 4552594 4552594 C T rs767554427 SEMA6B Nonsynonymous SNV V277M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192326 chr18 47376099 47376099 C T rs867029487 SNHG22 0.002 0 0 0 2 0 0 0 0 0 0 0 6.942 192327 chr18 47800076 47800076 G A rs116201949 MBD1 Nonsynonymous SNV T356I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.61 192328 chr16 2812265 2812265 C G SRRM2 Nonsynonymous SNV A579G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 192329 chr19 46094043 46094043 G A rs754393335 GPR4 Nonsynonymous SNV A361V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.691 192330 chr19 46176175 46176175 C G rs200291210 GIPR Nonsynonymous SNV T80R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 192331 chr19 54849256 54849256 G A LILRA4 Synonymous SNV T202T 0 0.005 0 0 0 2 0 0 0 0 0 0 1.055 192332 chr19 54940554 54940554 C T rs372594791 TTYH1 Synonymous SNV A268A 0 0.008 0 0 0 3 0 0 0 0 0 0 13.77 192333 chr8 41122786 41122786 G A rs761465184 SFRP1 Nonsynonymous SNV T282M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 192334 chr8 145668091 145668091 C T rs748017086 TONSL Nonsynonymous SNV D183N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 192335 chr8 41789911 41789911 T C KAT6A Nonsynonymous SNV M1943V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.78 192336 chr19 55047075 55047075 C T rs377239042 KIR3DX1 0 0.005 0 0 0 2 0 0 0 0 0 0 26.2 192337 chr8 145736254 145736254 C T rs73377627 MFSD3 Nonsynonymous SNV R345C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.7 192338 chr19 55174519 55174519 G C rs147307497 LILRB4 Nonsynonymous SNV G12R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.9 192339 chr19 55176594 55176594 C T rs78187395 LILRB4 Synonymous SNV D269D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.718 192340 chr19 55177373 55177373 A G rs76445142 LILRB4 Nonsynonymous SNV R318G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.2 192341 chr1 6309935 6309935 G C GPR153 Synonymous SNV A431A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.464 192342 chr18 55912659 55912659 T C NEDD4L Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 192343 chr19 47535565 47535565 G A rs558643878 NPAS1 Nonsynonymous SNV V130I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 192344 chr8 54963686 54963686 A G LYPLA1 Synonymous SNV P141P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 192345 chr19 47969505 47969505 C T rs766014054 SLC8A2 Synonymous SNV G52G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.97 192346 chr19 4818026 4818026 C T rs143789239 TICAM1 Nonsynonymous SNV V122I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.192 192347 chr18 28923906 28923906 A G rs116081362 DSG1 Nonsynonymous SNV I613M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.07 192348 chr1 6585971 6585971 C A rs200736091 NOL9 Nonsynonymous SNV E684D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.212 192349 chr18 60645666 60645666 G A rs767991701 PHLPP1 Nonsynonymous SNV V1386M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 192350 chr19 49129357 49129357 T G rs151257086 SPHK2 Synonymous SNV P47P 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 6.308 192351 chr1 78272701 78272701 T C MIGA1 Synonymous SNV N184N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.95 192352 chr1 78407885 78407885 C T NEXN Synonymous SNV L487L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.44 192353 chr19 49464222 49464235 CCCTGCCCCACCGT - rs763328495 BAX P101Rfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 192354 chr19 49388745 49388745 G A TULP2 Nonsynonymous SNV H341Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.14 192355 chr19 49575557 49575559 AGA - rs904432783 KCNA7 F95del 0.001 0 0 0 1 0 0 0 0 0 0 0 192356 chr19 49703575 49703575 C - rs1064796006 TRPM4 H535Tfs*35 0.002 0.003 0 0 2 1 0 0 0 0 0 0 192357 chr8 94747026 94747026 T C rs377069828 RBM12B Nonsynonymous SNV D538G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.041 192358 chr8 96064453 96064453 C T NDUFAF6 Stop gain Q179X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 192359 chr19 50435819 50435819 A G rs764374798 ATF5 Nonsynonymous SNV K107E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 192360 chr8 98943308 98943308 T G MATN2 Synonymous SNV G90G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.187 192361 chr19 50364907 50364907 G A rs762529581 PNKP Synonymous SNV F448F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.79 192362 chr19 51323422 51323422 C T rs558119154 KLK1 Nonsynonymous SNV E162K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 192363 chr18 8798218 8798218 C G rs141567899 MTCL1 Nonsynonymous SNV H789D 0.003 0 0 0 4 0 0 0 0 0 0 0 4.47 192364 chr18 8824732 8824732 G A rs367681723 MTCL1 Nonsynonymous SNV R1075H 0.002 0 0 0 2 0 0 0 0 0 0 0 30 192365 chr8 105456618 105456618 G A rs140389950 DPYS Synonymous SNV H217H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 192366 chr8 37728853 37728853 G A rs75558150 RAB11FIP1 Nonsynonymous SNV S1156L 0 0 0.007 0 0 0 0 2 0 0 0 0 35 192367 chr8 37986430 37986430 A G rs375068964 ASH2L Synonymous SNV T357T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.007 192368 chr19 51522399 51522399 C T rs374948477 KLK10 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 192369 chr19 1003696 1003696 G A rs200777913 GRIN3B Nonsynonymous SNV E332K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.946 192370 chr8 110455949 110455949 C T PKHD1L1 Synonymous SNV L1537L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.13 192371 chr19 52147273 52147273 G A rs118075827 SIGLEC14 Synonymous SNV S257S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 1.148 192372 chr19 52222927 52222927 G A rs61753443 HAS1 Synonymous SNV H77H 0.003 0.003 0 6 4 1 0.015 0 0 0 0 0 0.506 192373 chr19 10291473 10291473 C T rs61750053 DNMT1 Nonsynonymous SNV R69H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign/Likely benign 19.13 192374 chr19 1042357 1042357 G A ABCA7 Nonsynonymous SNV M153I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.075 192375 chr19 6743062 6743062 C A TRIP10 Synonymous SNV L94L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 192376 chr19 6743072 6743072 G C TRIP10 Nonsynonymous SNV V98L 0 0.003 0 0 0 1 0 0 0 0 0 0 22 192377 chr8 72877690 72877690 T C rs184795370 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.062 192378 chr19 53086405 53086405 C T rs368856235 ZNF701 Nonsynonymous SNV R365C 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 192379 chr8 133645065 133645065 G C rs141945265 LRRC6 Nonsynonymous SNV Q110E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 192380 chr8 133883643 133883643 A G rs35301433 TG Nonsynonymous SNV I109V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 192381 chr17 72791723 72791723 C T rs146332663 TMEM104 Synonymous SNV D196D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 15.44 192382 chr18 9570651 9570651 T C rs746209888 PPP4R1 Synonymous SNV V359V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.369 192383 chr20 1592052 1592052 G A rs577097595 SIRPB1 Synonymous SNV P128P 0.005 0.005 0 0 6 2 0 0 2 1 0 0 3.154 192384 chr19 11350345 11350345 C A rs200458610 ANGPTL8 Nonsynonymous SNV A11D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 192385 chr19 11510743 11510743 G A rs141019468 RGL3 Nonsynonymous SNV P541L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 192386 chr19 54308608 54308608 G A rs371264069 NLRP12 Synonymous SNV N781N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 2.044 192387 chr20 16347869 16347869 G A rs765114174 KIF16B Synonymous SNV V1367V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.221 192388 chr8 142228142 142228142 T C rs200771454 SLC45A4 Nonsynonymous SNV M482V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 192389 chr19 13423528 13423528 C T rs375628894 CACNA1A Synonymous SNV G542G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.21 192390 chr8 143747146 143747146 A G rs199704113 JRK Nonsynonymous SNV M111T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 192391 chr19 14048779 14048782 GGGG - rs768404328 PODNL1 P19Rfs*136 0.001 0 0 0 1 0 0 0 0 0 0 0 192392 chr19 547346 547346 C T rs61729586 GZMM Nonsynonymous SNV A2V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.81 192393 chr8 144358433 144358433 T A rs201418121 GLI4 Nonsynonymous SNV L197Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 192394 chr19 55447773 55447773 G A rs104895526 NLRP7 Nonsynonymous SNV A719V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 15.89 192395 chr19 11031606 11031606 C T rs199634229 CARM1 Synonymous SNV S507S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.8 192396 chr19 55568059 55568059 A C rs201546457 RDH13 Nonsynonymous SNV L101R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 192397 chr19 55591078 55591078 G T rs776653409 EPS8L1 Synonymous SNV L46L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.44 192398 chr9 109691071 109691071 A C rs529223542 ZNF462 Nonsynonymous SNV E1626D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.613 192399 chr9 111929212 111929212 C A FRRS1L Nonsynonymous SNV E120D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 192400 chr12 62790089 62790089 C T rs754226149 USP15 Nonsynonymous SNV S613L 0 0 0 1 0 0 0.003 0 0 0 0 0 35 192401 chr19 1275722 1275722 G A rs182664213 FAM174C Synonymous SNV T58T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.1 192402 chr8 144918045 144918045 G A NRBP2 Nonsynonymous SNV T461M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 192403 chr17 74772585 74772585 G A rs766951969 MFSD11 Nonsynonymous SNV D331N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 192404 chr19 55966669 55966669 C T ISOC2 Nonsynonymous SNV G56E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 192405 chr19 9056956 9056956 G A rs189166782 MUC16 Nonsynonymous SNV H10164Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.559 192406 chr19 56104077 56104077 G A rs138734721 FIZ1 Synonymous SNV G410G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 192407 chr9 115952753 115952753 C T rs376172887 FKBP15 Nonsynonymous SNV E391K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 192408 chr19 56423869 56423869 C T rs61742924 NLRP13 Synonymous SNV P438P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 8.352 192409 chr19 15760883 15760883 G A rs28371536 CYP4F3 Nonsynonymous SNV V270I 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign 17 192410 chr19 56733659 56733659 G T rs531717987 ZSCAN5A Nonsynonymous SNV P142Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 192411 chr20 33028009 33028009 T C ITCH Synonymous SNV S133S 0 0.005 0 0 0 2 0 0 0 0 0 0 9.773 192412 chr19 57286738 57286738 G A rs146726213 ZIM2 Nonsynonymous SNV P301L 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 0.003 192413 chr9 121976315 121976315 T C rs41273378 BRINP1 Synonymous SNV Q268Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.307 192414 chr20 33879994 33879994 C A rs769369828 FAM83C Synonymous SNV V38V 0 0.005 0 0 0 2 0 0 0 0 0 0 16.92 192415 chr9 123852665 123852665 C T rs117390062 CNTRL Synonymous SNV D110D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 13.21 192416 chr19 57724021 57724021 C T rs912212830 ZNF264 Nonsynonymous SNV S519L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 192417 chr20 36531768 36531768 G T rs147105904 VSTM2L Nonsynonymous SNV A6S 0 0.008 0 1 0 3 0.003 0 0 0 0 0 19.87 192418 chr20 36775135 36775135 G A rs2294545 TGM2 Synonymous SNV A200A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 13.76 192419 chr1 100177695 100177695 A G rs148375757 FRRS1 Synonymous SNV H482H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.179 192420 chr20 36989410 36989410 A G rs138894985 LBP Nonsynonymous SNV Q214R 0.003 0.018 0 1 4 7 0.003 0 0 0 0 0 Likely benign 22.6 192421 chr20 3782661 3782661 C T rs778972862 CDC25B Nonsynonymous SNV R146W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 192422 chr9 2831013 2831017 AACTC - rs781232160 PUM3 E208Kfs*2 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 192423 chr9 3330370 3330370 G A rs200759434 RFX3 Synonymous SNV G121G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.81 192424 chr19 58773876 58773876 A G rs200237099 ZNF544 Nonsynonymous SNV N607S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.993 192425 chr1 109200133 109200133 T C rs948851168 HENMT1 Synonymous SNV P30P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.259 192426 chr9 4576641 4576641 C T rs372708972 SLC1A1 Synonymous SNV F357F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.66 192427 chr16 88952258 88952258 G A rs113406657 LOC101927793 0.004 0 0 1 5 0 0.003 0 0 0 0 0 8.835 192428 chr17 79827361 79827361 A G rs542316722 ARHGDIA Nonsynonymous SNV C111R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.485 192429 chr19 6364479 6364479 G T rs376053962 CLPP Synonymous SNV A128A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 192430 chr19 19232371 19232371 C T rs368827076 TMEM161A Nonsynonymous SNV D152N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 192431 chr19 6427386 6427386 C T rs761156238 SLC25A41 Nonsynonymous SNV G251S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 192432 chr9 131107437 131107437 C T rs762085131 SLC27A4 Synonymous SNV G55G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 192433 chr9 131196838 131196838 G A rs201729613 CERCAM Nonsynonymous SNV R416H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 192434 chr19 6531141 6531141 G A rs199772971 TNFSF9 Nonsynonymous SNV V32I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.442 192435 chr9 13150558 13150558 A C rs188840960 MPDZ Nonsynonymous SNV S1194R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 192436 chr20 44692145 44692145 C T rs35315891 NCOA5 Nonsynonymous SNV R230H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 27.7 192437 chr19 18652528 18652528 C T rs374983500 FKBP8 Nonsynonymous SNV A85T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.06 192438 chr1 11718832 11718832 G A rs776387122 FBXO44 Nonsynonymous SNV V135M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.15 192439 chr9 35045053 35045053 T G rs763882496 C9orf131 Nonsynonymous SNV F774L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.984 192440 chr19 20229355 20229355 - T rs782492957 ZNF90 Stop gain K332* 0 0.003 0 0 0 1 0 0 0 0 0 0 192441 chr9 35853743 35853743 G A rs374952376 TMEM8B Nonsynonymous SNV R894Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 192442 chr9 72840926 72840926 A G rs144080628 MAMDC2 Nonsynonymous SNV D680G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 192443 chr13 20716345 20716345 T G rs779251021 GJA3 Synonymous SNV P361P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign 0.687 192444 chr1 145560893 145560893 G C rs149985268 ANKRD35 Nonsynonymous SNV Q160H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.75 192445 chr1 146758162 146758162 A G rs369564534 CHD1L Nonsynonymous SNV I532V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.6 192446 chr19 36362154 36362154 G A rs142596936 APLP1 Nonsynonymous SNV S147N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 192447 chr9 140247229 140247229 C T rs199618022 EXD3 Nonsynonymous SNV G294R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.3 192448 chr9 140250749 140250749 C T rs180687197 EXD3 Nonsynonymous SNV R243H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.4 192449 chr9 88961353 88961353 G A rs61747122 TUT7 Nonsynonymous SNV T188I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.6 192450 chr9 91993815 91993815 C T rs140573763 SEMA4D Nonsynonymous SNV S798N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 192451 chr20 62374085 62374085 C G SLC2A4RG Nonsynonymous SNV P332A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.259 192452 chr19 37733608 37733608 T C ZNF383 Nonsynonymous SNV L157P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 192453 chr19 36168722 36168722 C A rs546728034 UPK1A Stop gain S252X 0 0.003 0 0 0 1 0 0 0 0 0 0 15.42 192454 chr20 62593975 62593975 G A rs765901997 ZNF512B Nonsynonymous SNV R710C 0.003 0.005 0 0 3 2 0 0 0 0 0 0 34 192455 chr9 19521045 19521045 A G rs781108956 SLC24A2 Nonsynonymous SNV I511T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 192456 chr9 96715186 96715186 C T rs765029144 BARX1 Synonymous SNV T169T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.94 192457 chr19 38861409 38861409 G A rs145481167 CATSPERG Nonsynonymous SNV V1113M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.4 192458 chr19 39051761 39051761 C A rs749610835 RYR1 Nonsynonymous SNV D4092E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.54 192459 chr9 100237719 100237719 T C rs149857246 TDRD7 Nonsynonymous SNV F638L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.16 192460 chr19 39230770 39230773 AGAT - rs532284494 CAPN12 Stop gain Y216* 0.002 0 0 0 2 0 0 0 0 0 0 0 192461 chr19 39359798 39359798 C T rs142923912 RINL Synonymous SNV L549L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.879 192462 chr1 155015887 155015901 GGTGCGGGACTACGT - rs757029598 DCST1 V334_V338del 0 0.003 0 0 0 1 0 0 0 0 0 0 192463 chr9 101606425 101606425 C G rs35616709 GALNT12 Synonymous SNV P464P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 Benign/Likely benign 8.249 192464 chr9 34093400 34093400 G A rs149115505 DCAF12 Nonsynonymous SNV A303V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 32 192465 chr1 155308113 155308113 G T ASH1L Nonsynonymous SNV P2862H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 192466 chr19 38028162 38028162 C T rs200856065 ZNF793 Nonsynonymous SNV P201L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.51 192467 chr19 4037747 4037747 G A rs201184367 PIAS4 Synonymous SNV T469T 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 12.93 192468 chr19 38684330 38684330 C A SIPA1L3 Nonsynonymous SNV L1584M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 192469 chr1 110030257 110030257 G A rs146979128 ATXN7L2 Synonymous SNV K209K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.698 192470 chr9 111903782 111903782 C T rs377165402 FRRS1L Nonsynonymous SNV E235K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 192471 chr19 39868160 39868160 G A SAMD4B Synonymous SNV L380L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.923 192472 chr19 42880565 42880565 C T rs141224456 MEGF8 Nonsynonymous SNV R2659C 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 192473 chr9 71395859 71395859 A G FAM122A Nonsynonymous SNV K260R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 192474 chr1 1115589 1115589 G A rs199876262 TTLL10 Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.748 192475 chr9 113562997 113562997 C T rs754976866 MUSK Nonsynonymous SNV T360I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.2 192476 chr19 44116595 44116595 G A rs574941166 SRRM5 Nonsynonymous SNV D108N 0.004 0 0 0 5 0 0 0 0 0 0 0 0.047 192477 chr19 4048122 4048122 C T rs759055137 ZBTB7A Synonymous SNV T461T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.23 192478 chr9 79635700 79635700 C A rs781549912 FOXB2 Nonsynonymous SNV A377E 0 0 0.003 0 0 0 0 1 0 0 0 0 29 192479 chr19 1008919 1008919 G A rs137857882 GRIN3B Nonsynonymous SNV E899K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.949 192480 chr21 44279786 44279786 G A rs769744522 WDR4 Synonymous SNV L205L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.595 192481 chr9 894156 894156 C G rs34946058 DMRT1 Synonymous SNV P103P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.361 192482 chr9 117185766 117185766 G A rs79572315 WHRN Nonsynonymous SNV P134L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 192483 chr1 1233961 1233961 G A rs760524368 ACAP3 Synonymous SNV F283F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.39 192484 chr1 1325749 1325749 A T CCNL2 Synonymous SNV V67V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.265 192485 chr9 95019048 95019048 G A rs2070053 IARS1 Nonsynonymous SNV T656M 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 Benign 8.782 192486 chr19 44351165 44351165 T G rs760941945 ZNF283 Nonsynonymous SNV W138G 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 0.008 192487 chr9 97897765 97897765 T G rs771319430 FANCC Nonsynonymous SNV M236L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.64 192488 chr9 123914887 123914887 T C rs753463314 CNTRL Nonsynonymous SNV I811T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 192489 chr21 47571535 47571535 G A FTCD, FTCD-AS1 Synonymous SNV V29V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.703 192490 chr1 16577745 16577745 C T FBXO42 Nonsynonymous SNV G525E 0 0.005 0 0 0 2 0 0 0 0 0 0 23 192491 chrX 117106785 117106785 A G KLHL13 Synonymous SNV L3L 0 0 0.007 0 0 0 0 2 0 0 1 0 12.04 192492 chr9 125487021 125487021 G T rs771467815 OR1L4 Synonymous SNV L251L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 192493 chr19 46274775 46274775 C T rs774479026 DM1-AS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.367 192494 chr14 21526159 21526159 G A rs148657945 RNASE8 Synonymous SNV Q36Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.945 192495 chr19 12296605 12296605 G A rs117086249 ZNF136 Synonymous SNV S3S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.47 192496 chr17 40273315 40273315 T G rs374471583 KAT2A Nonsynonymous SNV E3A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 192497 chr19 4683521 4683521 T C rs771237993 DPP9 Nonsynonymous SNV M767V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 192498 chrX 135618355 135618355 C T rs3027860 VGLL1 Nonsynonymous SNV T59I 0.001 0 0.007 0 1 0 0 2 0 0 1 0 9.262 192499 chr1 145438835 145438835 G A rs111957558 TXNIP Synonymous SNV E11E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 192500 chr22 18358296 18358296 A T rs766532706 MICAL3 Nonsynonymous SNV F808I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 192501 chr9 130270192 130270192 C T rs376456300 NIBAN2 Synonymous SNV T523T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 192502 chr19 14876596 14876596 C T ADGRE2 Nonsynonymous SNV G219R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 192503 chr22 19754261 19754261 C A TBX1 Nonsynonymous SNV H453Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.4 192504 chr1 151070420 151070420 G A rs746084688 GABPB2 Synonymous SNV S132S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.936 192505 chr22 20230163 20230163 C T rs200273990 RTN4R Nonsynonymous SNV A165T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 192506 chrX 154157002 154157002 G A rs782235155 F8 Nonsynonymous SNV S1688L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Uncertain significance 22.5 192507 chr19 46891955 46891955 G A rs753540087 PPP5C Nonsynonymous SNV R419H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 192508 chr19 48953694 48953694 G A rs147327994 GRWD1 Nonsynonymous SNV R198Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 19.07 192509 chr9 131764005 131764005 G C NUP188 Nonsynonymous SNV Q1347H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 192510 chr1 152671399 152671399 C G rs151071437 LCE2A Nonsynonymous SNV Q8E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.74 192511 chr19 49309812 49309812 G A rs771881228 BCAT2 Synonymous SNV L88L 0.004 0 0 0 5 0 0 0 0 0 0 0 11.88 192512 chr9 134050985 134050985 G A rs149894427 NUP214 Nonsynonymous SNV R1089Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 192513 chrX 63444271 63444271 T C rs149424932 ASB12 Nonsynonymous SNV I301V 0 0 0.007 2 0 0 0.005 2 0 0 1 1 22.2 192514 chrX 69283076 69283076 G A rs148790869 OTUD6A Synonymous SNV E234E 0 0 0.007 0 0 0 0 2 0 0 1 0 1.991 192515 chrX 73438224 73438224 C T rs372055341 MIR421 0 0 0.007 0 0 0 0 2 0 0 1 0 16.1 192516 chr19 50312773 50312773 G A FUZ Synonymous SNV S148S 0.003 0 0 0 3 0 0 0 0 0 0 0 14.31 192517 chr19 50657874 50657874 G A rs780257716 IZUMO2 Synonymous SNV F202F 0.003 0 0 0 3 0 0 0 0 0 0 0 7.798 192518 chr1 155912569 155912569 C T rs369005247 RXFP4 Nonsynonymous SNV R357W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 192519 chr10 100020733 100020733 A G LOXL4 Nonsynonymous SNV V203A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.66 192520 chr1 186415571 186415571 C T rs140224239 PDC Nonsynonymous SNV R15Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 192521 chr10 102676783 102676783 G A rs139059266 SLF2 Nonsynonymous SNV R214K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.94 192522 chr10 102763425 102763425 C T rs139556482 LZTS2 Synonymous SNV S190S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.28 192523 chr1 18960951 18960951 C T rs182010284 PAX7 Synonymous SNV H80H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 192524 chr1 19062155 19062155 G A rs138918372 PAX7 Synonymous SNV A395A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.48 192525 chr9 138662861 138662861 G A rs141281093 KCNT1 Nonsynonymous SNV R598Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.414 192526 chr1 19635112 19635112 G A rs201135912 AKR7A2 Nonsynonymous SNV P108L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 192527 chr9 139354219 139354219 G A rs375424055 SEC16A Synonymous SNV G1727G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 192528 chr1 158647561 158647561 A G rs181976789 SPTA1 Synonymous SNV Y292Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.054 192529 chr1 158687128 158687128 G T rs141674620 OR6K3 Nonsynonymous SNV R260S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.52 192530 chr10 115344002 115344002 A G rs947184761 HABP2 Nonsynonymous SNV S419G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 192531 chr19 51633193 51633193 C A SIGLEC9 Nonsynonymous SNV P417T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.416 192532 chr22 38119330 38119330 C T rs147645357 TRIOBP Nonsynonymous SNV T256M 0 0.005 0 0 0 2 0 0 0 0 0 0 19.39 192533 chr1 15978316 15978316 G A rs781075305 DDI2 Nonsynonymous SNV R370K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.17 192534 chr1 201180131 201180131 A G IGFN1 Nonsynonymous SNV D2037G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.331 192535 chr9 140099481 140099481 A G rs143273542 TMEM203 Nonsynonymous SNV M129T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 192536 chr19 52115529 52115529 C T rs145143031 SIGLEC5 Synonymous SNV E537E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.943 192537 chr1 160811621 160811621 T C rs140915491 CD244 Nonsynonymous SNV I44M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 192538 chr19 5240214 5240214 C T rs770776322 PTPRS Nonsynonymous SNV R554Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 192539 chr9 140508493 140508493 G A ARRDC1 Nonsynonymous SNV V149M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 192540 chr1 169509687 169509687 A G rs138504020 F5 Synonymous SNV D1547D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 1.811 192541 chr1 202287711 202287711 G A rs142292766 LGR6 Synonymous SNV R621R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.687 192542 chr10 288048 288048 G A ZMYND11 Nonsynonymous SNV D205N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192543 chr10 1284349 1284349 C A rs140915343 ADARB2 Synonymous SNV R402R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.218 192544 chr10 121602055 121602055 C T MCMBP Synonymous SNV G351G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 192545 chr10 121602056 121602056 C A MCMBP Nonsynonymous SNV G351V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 192546 chr10 125805683 125805683 C T rs35043821 CHST15 Nonsynonymous SNV A16T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.033 192547 chr19 35760880 35760880 C T rs555503800 USF2 Nonsynonymous SNV P135S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.91 192548 chr10 126519999 126519999 A G ABRAXAS2 Nonsynonymous SNV T249A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.264 192549 chr1 17380467 17380467 T G SDHB Synonymous SNV T16T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.972 192550 chr1 173840075 173840075 A G ZBTB37 Nonsynonymous SNV R238G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.937 192551 chr1 173884000 173884000 G A rs147676453 SERPINC1 Synonymous SNV H33H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 192552 chr10 7618607 7618607 G A rs373322276 ITIH5 Nonsynonymous SNV P382L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.719 192553 chr19 36142158 36142158 A C rs373850890 COX6B1 Nonsynonymous SNV M5L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.77 192554 chr10 7773836 7773836 A G rs34533278 ITIH2 Synonymous SNV T508T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.018 192555 chr19 36231313 36231313 - CGCGGCGGGAGTAGGGGT IGFLR1 A103_G104insTPTPAA 0.002 0 0 0 2 0 0 0 0 0 0 0 192556 chr1 1685019 1685019 G A rs375840869 NADK Nonsynonymous SNV R359C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 192557 chr1 169094183 169094183 G A rs149479006 ATP1B1 Synonymous SNV K96K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.35 192558 chr10 129868686 129868686 A G rs146930877 PTPRE Nonsynonymous SNV D202G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.92 192559 chr19 54313463 54313463 G A NLRP12 Nonsynonymous SNV H484Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 192560 chr19 36642580 36642582 CTT - rs530285319 COX7A1 K31del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 192561 chr19 55879685 55879685 C T rs4252576 IL11 Nonsynonymous SNV V29M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 192562 chr10 12212738 12212738 A T NUDT5 Nonsynonymous SNV N173K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 192563 chr10 12219820 12219820 C G rs149162963 NUDT5 Star tloss M87I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.805 192564 chr19 549133 549133 C T rs373974834 GZMM Nonsynonymous SNV S148F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.549 192565 chr17 72368111 72368111 T C GPR142 Nonsynonymous SNV V166A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 192566 chr10 18282136 18282136 C T rs373320291 SLC39A12 Synonymous SNV H349H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 192567 chr10 18828455 18828455 C T rs61733967 CACNB2 Synonymous SNV H540H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.568 192568 chr10 135044279 135044279 G A rs564291939 UTF1 Nonsynonymous SNV G163R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 192569 chr19 56424097 56424097 C T rs773534045 NLRP13 Synonymous SNV T362T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.407 192570 chr19 39100577 39100577 A G rs200338471 MAP4K1 Nonsynonymous SNV I300T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 192571 chr1 176175883 176175883 - GCG rs888683066 COP1 S77_G78insR 0.001 0 0 0 1 0 0 0 0 0 0 0 192572 chr10 22675697 22675697 G A SPAG6 Nonsynonymous SNV V141M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 192573 chr15 30000832 30000832 G C rs200957753 TJP1 Nonsynonymous SNV S1514C 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 27.7 192574 chr15 34115229 34115229 T C RYR3 Synonymous SNV D3671D 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 5.619 192575 chr15 36950106 36950106 C T rs758085699 C15orf41 Nonsynonymous SNV P79S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.3 192576 chr10 29710637 29710637 A T rs11007567 SVIL-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.578 192577 chr15 37390246 37390246 G A rs372646327 MEIS2 Nonsynonymous SNV P43L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24 192578 chr10 29811423 29811423 G A SVIL Nonsynonymous SNV A676V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 192579 chr10 3187822 3187822 T C rs376250180 PITRM1 Nonsynonymous SNV K710R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.217 192580 chr1 1850359 1850359 G A rs772799278 TMEM52 Nonsynonymous SNV A48V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 192581 chr1 1878487 1878487 T C CFAP74 Nonsynonymous SNV E728G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.79 192582 chr19 57967588 57967588 T G VN1R1 Nonsynonymous SNV Q89H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 192583 chr19 58773501 58773501 A C ZNF544 Nonsynonymous SNV H482P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 192584 chr19 6755113 6755113 C T rs146905494 SH2D3A Nonsynonymous SNV R237Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 16.78 192585 chr1 23418623 23418623 G A LUZP1 Nonsynonymous SNV A711V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.363 192586 chr19 5997116 5997116 G A rs75499120 RFX2 Synonymous SNV R631R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.18 192587 chr1 236228308 236228308 C T rs551401604 NID1 Synonymous SNV G24G 0 0.008 0 0 0 3 0 0 0 0 0 0 17.25 192588 chr19 7547052 7547052 C A rs144344998 PEX11G Nonsynonymous SNV A99S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 192589 chr10 51050074 51050074 G A rs375437639 PARG Synonymous SNV I407I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 192590 chr10 48438491 48438491 T C GDF10 Nonsynonymous SNV M74V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.136 192591 chr19 7681491 7681491 G A CAMSAP3 Synonymous SNV V1065V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.68 192592 chr19 814572 814572 C T rs749622145 PLPPR3 Synonymous SNV K259K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.27 192593 chr10 50854593 50854593 T C CHAT Nonsynonymous SNV I267T 0 0 0.003 0 0 0 0 1 0 0 0 0 28 192594 chr19 7704652 7704652 C G rs532380776 STXBP2 Nonsynonymous SNV P69A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.36 192595 chr10 5682737 5682737 C T rs143670864 ASB13 Nonsynonymous SNV V256I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 192596 chr1 203682333 203682333 G A rs765217076 ATP2B4 Nonsynonymous SNV R751Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 192597 chr2 152385800 152385800 T C NEB Nonsynonymous SNV N5519S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.366 192598 chr10 72532300 72532300 T C rs143899859 TBATA Nonsynonymous SNV I315V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 192599 chr1 248487168 248487168 G A rs55956377 OR2M7 Nonsynonymous SNV R235C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.22 192600 chr19 9077640 9077640 G C MUC16 Nonsynonymous SNV P3269R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.759 192601 chr10 73768040 73768040 G C rs140411224 CHST3 Synonymous SNV T417T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.036 192602 chr19 9084710 9084710 A G rs189778335 MUC16 Nonsynonymous SNV S2369P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.523 192603 chr1 2116114 2116114 C G rs56402864 PRKCZ Synonymous SNV P373P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.83 192604 chr10 79814612 79814612 T C rs2257155 RPS24 Synonymous SNV G238G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 192605 chr19 9071108 9071108 T A MUC16 Synonymous SNV T5446T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.524 192606 chr1 214830608 214830608 G C rs535739714 CENPF Nonsynonymous SNV E2940Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 192607 chr10 90497456 90497456 T G rs755804178 LIPK Nonsynonymous SNV V245G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 192608 chr2 176964918 176964918 C A HOXD12 Nonsynonymous SNV A130D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 192609 chr2 179419792 179419792 G A rs146181116 TTN Nonsynonymous SNV S20400F 0.003 0.005 0.007 4 4 2 0.01 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 192610 chr10 93389688 93389688 C T rs373774243 PPP1R3C Nonsynonymous SNV R317Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 192611 chr1 225273453 225273453 G A rs1026027482 DNAH14 Nonsynonymous SNV A1179T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.02 192612 chr10 95134541 95134541 T C rs148340111 MYOF Synonymous SNV K747K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.46 192613 chr10 95353620 95353620 C A rs150540008 RBP4 Nonsynonymous SNV E176D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 192614 chr1 231042661 231042661 T G rs140400255 TTC13 Nonsynonymous SNV K804T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 192615 chr1 35227466 35227466 A C rs3738346 GJB4 Nonsynonymous SNV E204A 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Benign 26.9 192616 chr1 36053995 36053995 C T rs115539103 TFAP2E Synonymous SNV G209G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.85 192617 chr1 36214065 36214065 C T rs116811460 CLSPN Nonsynonymous SNV G741R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28 192618 chr10 99126521 99126521 - CTCCTCCTCCTC rs751102166 RRP12 E964_P965insEEEE 0.001 0 0 0 1 0 0 0 0 0 0 0 192619 chr1 37324757 37324757 C T rs775387063 GRIK3 Synonymous SNV R352R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.67 192620 chr1 117655032 117655032 A G TRIM45 Synonymous SNV G528G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 192621 chr19 52570830 52570830 G T ZNF841 Nonsynonymous SNV P102Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.118 192622 chr1 1149134 1149134 G A rs144102157 TNFRSF4 Synonymous SNV S59S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.489 192623 chr10 101715102 101715102 C G DNMBP Nonsynonymous SNV R710T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 192624 chr2 201354948 201354948 C T rs200313964 KCTD18 Nonsynonymous SNV A386T 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 17.58 192625 chr2 20201785 20201785 T C MATN3 Nonsynonymous SNV R325G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.3 192626 chr10 103900766 103900766 C G rs17855877 PPRC1 Nonsynonymous SNV P834R 0.002 0 0.01 0 2 0 0 3 0 0 0 0 23.2 192627 chr1 1284302 1284302 G A rs746519361 DVL1 Synonymous SNV F48F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.771 192628 chr1 233507865 233507865 C T rs148604151 MAP3K21 Nonsynonymous SNV P545L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 192629 chr10 104163154 104163154 G A rs142273937 PSD Nonsynonymous SNV R960W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192630 chr10 105812838 105812838 - CCCATGGGGCCTTCTCGCCCTCTCTGG COL17A1 G630_P631insQRGREGPMG 0.001 0 0 0 1 0 0 0 0 0 0 0 192631 chr10 106130760 106130760 A G rs199645912 CFAP58 Synonymous SNV E346E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.628 192632 chr1 44437655 44437655 C T rs199974563 DPH2 Nonsynonymous SNV P226S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 192633 chr1 12726169 12726169 G A rs146900669 AADACL4 Nonsynonymous SNV R216Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.7 192634 chr1 149907209 149907209 A G rs139327671 MTMR11 Nonsynonymous SNV I31T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 192635 chr10 116245112 116245112 C T rs139090722 ABLIM1 Nonsynonymous SNV D41N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 192636 chr1 248112358 248112358 C T OR2L8 Nonsynonymous SNV L67F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 192637 chr1 151491088 151491088 G A rs144710868 CGN Synonymous SNV E31E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 192638 chr15 93198785 93198785 C T FAM174B Synonymous SNV P35P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.81 192639 chr10 124914439 124914439 C T rs149700264 BUB3 Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 192640 chr11 116701309 116701309 G A rs779597455 APOC3 Nonsynonymous SNV R4Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 192641 chr11 116706918 116706918 T C APOA1 Nonsynonymous SNV E137G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 192642 chr1 24795618 24795618 C T rs147661477 NIPAL3 Synonymous SNV G227G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.2 192643 chr11 117299424 117299424 C T rs149175291 DSCAML1 Nonsynonymous SNV A1928T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.8 192644 chr16 1129132 1129132 G A rs746075258 SSTR5 Synonymous SNV L88L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 192645 chr19 10909178 10909178 G A rs749154067 DNM2 Nonsynonymous SNV R451Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.9 192646 chr1 156565633 156565633 C T rs199804048 GPATCH4 Nonsynonymous SNV R167H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 192647 chr10 129905551 129905551 A G rs770574651 MKI67 Nonsynonymous SNV V1158A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 192648 chr1 156779469 156779469 C T SH2D2A Nonsynonymous SNV G205E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.138 192649 chr10 131506239 131506239 A G rs749621475 MGMT Nonsynonymous SNV Y69C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 192650 chr19 57642464 57642464 C G USP29 Synonymous SNV A807A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.966 192651 chr2 226273657 226273657 C G rs201512658 NYAP2 Nonsynonymous SNV Q21E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.8 192652 chr16 15694343 15694343 G A MARF1 Synonymous SNV I1585I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.586 192653 chr19 1275564 1275564 C G rs1015291668 FAM174C Nonsynonymous SNV L6V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.97 192654 chr2 228560665 228560665 G A rs142166552 SLC19A3 Nonsynonymous SNV A371V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 9.251 192655 chr1 158647491 158647491 T G SPTA1 Nonsynonymous SNV M316L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 192656 chr16 18847352 18847352 C T rs780141624 SMG1 Nonsynonymous SNV A2654T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 192657 chr1 27088768 27088768 A G rs372272181 ARID1A Nonsynonymous SNV M793V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.72 192658 chr1 27632805 27632805 C A rs761056999 WDTC1 Nonsynonymous SNV S655R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 192659 chr16 2028166 2028166 T C rs781289072 TBL3 Synonymous SNV P693P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 192660 chr1 160012073 160012073 C T rs140646329 KCNJ10 Nonsynonymous SNV V84M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 192661 chr19 6678189 6678189 G A rs139457470 C3 Synonymous SNV S1608S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.17 192662 chr19 6707877 6707877 C G rs149850773 C3 Nonsynonymous SNV G637R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 192663 chr16 20810665 20810665 C T rs139299293 ERI2 Nonsynonymous SNV D218N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 192664 chr1 32557459 32557459 C T rs372378592 TMEM39B Synonymous SNV A59A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.41 192665 chr1 886587 886587 G A rs967128892 NOC2L Stop gain R455X 0 0.005 0 0 0 2 0 0 0 0 0 0 39 192666 chr1 8921419 8921419 T C rs138375821 ENO1 Synonymous SNV X342X 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 10.55 192667 chr19 7697343 7697343 C T rs61741491 PCP2 Nonsynonymous SNV R60H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.3 192668 chr1 33799863 33799863 G A rs372578094 PHC2 Nonsynonymous SNV T501I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.62 192669 chr19 16688147 16688147 A T MED26 Nonsynonymous SNV V165D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 192670 chr11 15247309 15247309 A G rs368157409 INSC Nonsynonymous SNV I327V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.996 192671 chr1 160808796 160808796 G A rs34984882 CD244 Synonymous SNV S141S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.244 192672 chr1 167793980 167793980 T G rs564897812 ADCY10 Nonsynonymous SNV K1135N 0.003 0 0 0 3 0 0 0 0 0 0 0 11.8 192673 chr1 3750432 3750432 A G rs141730324 CEP104 Synonymous SNV F551F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.317 192674 chr1 39879817 39879817 G A rs762700418 KIAA0754 Nonsynonymous SNV A1294T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.21 192675 chr1 170135755 170135755 T C METTL11B Nonsynonymous SNV M148T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.26 192676 chr1 171679875 171679875 C G VAMP4 Nonsynonymous SNV D81H 0.003 0 0 0 3 0 0 0 0 0 0 0 31 192677 chr1 168066163 168066163 C T rs143799014 GPR161 Nonsynonymous SNV V150I 0 0.005 0 0 0 2 0 0 0 0 0 0 18.57 192678 chr1 9778943 9778943 T C rs375505004 PIK3CD Synonymous SNV A375A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.454 192679 chr1 43232997 43232997 C A rs193038877 C1orf50 Synonymous SNV A5A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.72 192680 chr1 169562857 169562857 C T rs201454112 SELP Nonsynonymous SNV R798H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 192681 chr1 17418969 17418969 C T rs764725762 PADI2 Nonsynonymous SNV G197R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 192682 chr1 43770815 43770815 T C rs751991908 TIE1 Nonsynonymous SNV Y73H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 192683 chr1 43779482 43779482 G A rs753360821 TIE1 Nonsynonymous SNV R706Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 192684 chr11 27536531 27536531 A G MIR8087 0 0 0.003 0 0 0 0 1 0 0 0 0 8.055 192685 chr1 45120853 45120853 G A TMEM53 Nonsynonymous SNV P71L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 192686 chr20 16360059 16360059 C T KIF16B Nonsynonymous SNV C863Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 192687 chr1 180068055 180068055 A G rs750184585 CEP350 Nonsynonymous SNV K3042E 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 192688 chr20 17505502 17505502 C T rs750119804 BFSP1 Synonymous SNV R18R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.77 192689 chr11 34378764 34378764 C G rs557229241 ABTB2 Nonsynonymous SNV E123Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24 192690 chr1 179966196 179966196 C T rs565023645 CEP350 Nonsynonymous SNV R302W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 192691 chr11 46792518 46792518 C T CKAP5 Synonymous SNV L1002L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 192692 chr11 47202137 47202137 C T PACSIN3 Nonsynonymous SNV D106N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 192693 chr1 182026526 182026527 TG - ZNF648 H207Yfs*39 0 0.003 0 0 0 1 0 0 0 0 0 0 192694 chr1 109823418 109823418 C T rs144022094 PSRC1 Nonsynonymous SNV A262T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.963 192695 chr19 30505921 30505921 A G rs779931177 URI1 Nonsynonymous SNV E518G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.745 192696 chr1 19216595 19216595 G A rs778225599 ALDH4A1 Nonsynonymous SNV R23W 0.002 0 0 0 2 0 0 0 0 0 0 0 23 192697 chr2 42275892 42275892 C G rs531061920 PKDCC Nonsynonymous SNV R185G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 192698 chr11 4674110 4674110 G A rs911433800 OR51E1 Synonymous SNV L118L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.165 192699 chr19 34832908 34832908 A G rs972739705 KIAA0355 Nonsynonymous SNV Q690R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.753 192700 chr20 31499502 31499502 G C rs147417435 EFCAB8 Nonsynonymous SNV E592Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.595 192701 chr11 5080336 5080337 AT - OR52E2 H174Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 192702 chr1 78399145 78399145 - GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC NEXN Stop gain R348_N611delinsAGRGGSRL 0.001 0 0 0 1 0 0 0 0 0 0 0 192703 chr1 200842596 200842596 T C rs200195345 GPR25 Nonsynonymous SNV L144P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.167 192704 chr16 67860100 67860100 G C rs774866226 TSNAXIP1 Nonsynonymous SNV G51A 0 0 0 3 0 0 0.008 0 0 0 0 0 24.9 192705 chr20 34204037 34204037 C G SPAG4 Nonsynonymous SNV R38G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 192706 chr20 3845228 3845228 A G rs149444335 MAVS Synonymous SNV A176A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.133 192707 chr1 204438326 204438326 A C rs140206020 PIK3C2B Nonsynonymous SNV L202R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 192708 chr20 44841750 44841750 C T rs143440003 CDH22 Nonsynonymous SNV V306M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 192709 chr11 5424638 5424638 C T rs183738872 OR51J1 Nonsynonymous SNV S271F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.4 192710 chr19 38899466 38899466 C T rs768258248 FAM98C Stop gain R250X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 192711 chr19 39092150 39092150 C T rs781682486 MAP4K1 Nonsynonymous SNV V488I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 192712 chr11 55433333 55433333 C T rs140747151 OR4C6 Nonsynonymous SNV R231W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.68 192713 chr1 2080360 2080360 G A rs143254895 PRKCZ Synonymous SNV S45S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.118 192714 chr19 39397911 39397911 C T rs201514301 NFKBIB Nonsynonymous SNV R138W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 192715 chr1 205074221 205074221 G A RBBP5 Synonymous SNV G98G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.41 192716 chr1 20981188 20981188 A G DDOST Synonymous SNV D205D 0.003 0 0 0 3 0 0 0 0 0 0 0 1.073 192717 chr20 54575808 54575808 G A CBLN4 Synonymous SNV V129V 0 0.01 0 0 0 4 0 0 0 0 0 0 10.77 192718 chr1 207195352 207195352 T C rs34933739 C1orf116 Nonsynonymous SNV N340S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.23 192719 chr2 97213247 97213247 C T rs774151096 ARID5A Nonsynonymous SNV S38L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.179 192720 chr16 84494322 84494322 C A rs189007525 ATP2C2 Nonsynonymous SNV T648N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 15.74 192721 chr19 41931834 41931834 G A rs764154034 B3GNT8 Nonsynonymous SNV R284W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 192722 chr20 19654276 19654276 C G rs148897045 SLC24A3 Nonsynonymous SNV L249V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.501 192723 chr20 20453542 20453542 C T rs201178329 RALGAPA2 Nonsynonymous SNV S1809N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 192724 chr19 4217355 4217355 A T ANKRD24 Nonsynonymous SNV E733V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.5 192725 chr1 155002968 155002968 C T rs41264279 DCST2 Nonsynonymous SNV R320Q 0.005 0 0.01 4 6 0 0.01 3 0 0 0 0 11.81 192726 chr20 61485507 61485507 C T rs141195716 TCFL5 Nonsynonymous SNV R413H 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 24.9 192727 chr1 215901623 215901623 C T rs146264950 USH2A Nonsynonymous SNV E3939K 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 21.7 192728 chr11 5799047 5799047 A C rs149998822 OR52N5 Nonsynonymous SNV F273C 0 0 0.007 0 0 0 0 2 0 0 1 0 24.5 192729 chr3 113376620 113376620 C G rs376169336 USF3 Nonsynonymous SNV M1303I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.91 192730 chr1 157094714 157094714 G A rs62640944 ETV3 Synonymous SNV A486A 0.003 0.003 0.007 4 4 1 0.01 2 0 0 0 0 6.432 192731 chr1 228402129 228402129 G A rs375898060 OBSCN Nonsynonymous SNV V505M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 192732 chr20 18550032 18550032 C T SMIM26 Nonsynonymous SNV P91S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 192733 chr1 228582605 228582605 C T rs765073440 TRIM11 Nonsynonymous SNV R403H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 192734 chr11 58949373 58949373 G A rs747737410 DTX4 Nonsynonymous SNV D19N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 192735 chr11 59623400 59623400 G A rs143457374 TCN1 Synonymous SNV A293A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.261 192736 chr1 225702556 225702556 T A ENAH Synonymous SNV P320P 0 0.005 0 0 0 2 0 0 0 0 0 0 12.41 192737 chr20 23065747 23065747 G A rs150829026 CD93 Synonymous SNV T361T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.474 192738 chr20 39983497 39983497 A - rs754402686 LPIN3 Q554Rfs*9 0.002 0 0 0 2 0 0 0 0 0 0 0 192739 chr1 161179669 161179669 T A NDUFS2 Nonsynonymous SNV V217E 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 34 192740 chr21 33725117 33725117 T A URB1 Stop gain K839X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 192741 chr20 30804459 30804459 C T POFUT1 Synonymous SNV F159F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.29 192742 chr11 33065414 33065414 C T rs117571357 TCP11L1 Nonsynonymous SNV A32V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 192743 chr11 33360937 33360937 T C rs764800823 HIPK3 Synonymous SNV A490A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.266 192744 chr11 62066428 62066428 C T rs376699019 SCGB1D4 Nonsynonymous SNV A19T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 192745 chr20 44815244 44815244 G A rs763653740 CDH22 Nonsynonymous SNV S549F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 192746 chr3 124732098 124732098 A G rs187307236 HEG1 Synonymous SNV T775T 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 0.167 192747 chr1 167095764 167095764 C T rs375239703 DUSP27 Nonsynonymous SNV R466C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 192748 chr20 32228315 32228315 A G rs75180889 CBFA2T2 Nonsynonymous SNV N489S 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 16.88 192749 chr20 32265272 32265272 G A E2F1 Nonsynonymous SNV A267V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 192750 chr20 32265273 32265273 C T E2F1 Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 192751 chr20 47606192 47606192 A G rs546454517 ARFGEF2 Nonsynonymous SNV I929V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 192752 chr1 169500111 169500112 GG - rs779490602 F5 T1707Ifs*7 0.002 0.003 0 0 2 1 0 0 0 0 0 0 192753 chr1 169500113 169500113 T A rs768940817 F5 Nonsynonymous SNV T1707S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 192754 chr11 6265203 6265203 C G rs779770459 CNGA4 Nonsynonymous SNV T431R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 192755 chr20 48156145 48156145 C T rs370989795 PTGIS Nonsynonymous SNV R212Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 192756 chr20 34087915 34087915 G A rs770550852 CEP250 Nonsynonymous SNV R640H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.103 192757 chr20 34827932 34827932 G T rs111591742 AAR2 Nonsynonymous SNV V48L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.7 192758 chr1 245530371 245530371 G A rs199616708 KIF26B Nonsynonymous SNV R234Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.1 192759 chr11 46911997 46911997 G A LRP4 Synonymous SNV S582S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.169 192760 chr1 245851816 245851816 C T rs569414109 KIF26B Nonsynonymous SNV A1844V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.58 192761 chr20 50408081 50408081 G C SALL4 Nonsynonymous SNV T314S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 192762 chr11 48142731 48142731 C T rs754165499 PTPRJ Nonsynonymous SNV R177C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 192763 chr21 43557707 43557707 A G rs200403033 UMODL1 Nonsynonymous SNV S1368G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.417 192764 chr1 240072054 240072054 G A rs145865028 CHRM3 Nonsynonymous SNV V435M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.73 192765 chr20 3804755 3804755 G A rs141669377 AP5S1 Synonymous SNV T138T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.597 192766 chr11 64880138 64880138 C T TM7SF2 Synonymous SNV A68A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 192767 chr1 24201911 24201911 C T rs61996280 CNR2 Nonsynonymous SNV R66Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.73 192768 chr21 45534126 45534126 C T rs545213060 LOC102724159, PWP2 Nonsynonymous SNV S98F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 192769 chr21 45544558 45544558 C T LOC102724159, PWP2 Nonsynonymous SNV L639F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 30 192770 chr11 65337506 65337506 G T rs113298476 SSSCA1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 4.277 192771 chr21 45560184 45560184 C T rs748996769 GATD3A, GATD3B Nonsynonymous SNV R75C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 192772 chr21 45837863 45837863 G A rs541159083 TRPM2 Nonsynonymous SNV R1067H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 192773 chr17 26942814 26942814 A C KIAA0100 Synonymous SNV G1988G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.735 192774 chr20 44052968 44052968 G A rs1054502758 PIGT Synonymous SNV A347A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.33 192775 chr1 180124163 180124163 C A rs1028409575 QSOX1 Nonsynonymous SNV P41T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 192776 chr1 180907743 180907743 G A rs200033632 KIAA1614 Synonymous SNV T938T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 192777 chr20 61944198 61944198 T C rs895908421 COL20A1 Nonsynonymous SNV V663A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.603 192778 chr1 249212465 249212465 C T rs767966315 PGBD2 Nonsynonymous SNV T310I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 192779 chr11 6643612 6643612 G A rs546047071 DCHS1 Synonymous SNV L3099L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.122 192780 chr11 67258379 67258379 G A rs1006697477 AIP Nonsynonymous SNV S244N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 192781 chr20 49236604 49236604 G A rs145939916 RIPOR3 Nonsynonymous SNV T63M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 192782 chr11 67816463 67816463 G C rs35089741 TCIRG1 Nonsynonymous SNV V342L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 192783 chr1 27023141 27023158 GGCGGCGGCGGCGGAGCC - rs777773061 ARID1A G84_G89del 0.001 0 0 0 1 0 0 0 0 0 0 0 192784 chr1 28208568 28208568 A C THEMIS2 Nonsynonymous SNV K245Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.581 192785 chr1 28208569 28208569 A C THEMIS2 Nonsynonymous SNV K245T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 192786 chr1 196953221 196953221 G T rs147791058 CFHR5 Synonymous SNV S128S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.343 192787 chr22 20909392 20909392 G A rs753750939 MED15 Nonsynonymous SNV M136I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 192788 chr1 32154650 32154650 C A rs72887331 COL16A1 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 27.3 192789 chr1 32196584 32196584 C T rs61744251 ADGRB2 Synonymous SNV L1366L 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 11.36 192790 chr1 32280523 32280523 T G rs150966773 SPOCD1 Synonymous SNV R138R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.438 192791 chr1 32479836 32479836 G A rs373256621 KHDRBS1 Synonymous SNV G80G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.32 192792 chr20 5953739 5953739 G A rs767097477 MCM8 Nonsynonymous SNV G431E 0.001 0 0 0 1 0 0 0 0 0 0 0 30 192793 chr1 33233498 33233498 C T rs11803515 KIAA1522 Nonsynonymous SNV P57S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 17.07 192794 chr1 33236966 33236966 C G rs767750202 KIAA1522 Nonsynonymous SNV P670R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 192795 chr1 33237239 33237239 C T rs114127179 KIAA1522 Nonsynonymous SNV S761F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.609 192796 chr1 33612789 33612789 C T rs61737100 TRIM62 Nonsynonymous SNV V352I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 22.7 192797 chr11 74109126 74109126 C T rs766558232 PGM2L1 Synonymous SNV T27T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 192798 chr21 30380903 30380903 G A rs1047036 RWDD2B Nonsynonymous SNV A36V 0.008 0.005 0.003 2 9 2 0.005 1 0 0 0 0 24.3 192799 chr22 24313758 24313758 C T rs143991895 DDT Synonymous SNV T113T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.54 192800 chr1 35370364 35370364 T C rs202011288 DLGAP3 Synonymous SNV G207G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 192801 chr1 36553702 36553702 G C rs577850035 TEKT2 Nonsynonymous SNV R403T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.72 192802 chr19 54599264 54599264 C T rs773351429 OSCAR Synonymous SNV A165A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.89 192803 chr20 61834833 61834833 G A rs768245222 YTHDF1 Synonymous SNV Y153Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.266 192804 chr11 76990359 76990359 A G rs771922600 GDPD4 Synonymous SNV L47L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 7.782 192805 chr21 35260601 35260601 G A rs144206450 ITSN1 Synonymous SNV P1716P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 9.259 192806 chr22 29139876 29139876 T C rs201398209 HSCB Synonymous SNV R81R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.561 192807 chr21 36042315 36042315 A G rs183914556 CLIC6 Nonsynonymous SNV I210V 0.003 0 0 0 4 0 0 0 1 0 0 0 0.001 192808 chr11 77936207 77936207 C G rs201763131 GAB2 Nonsynonymous SNV E379Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 192809 chr21 36042482 36042482 G A rs369616665 CLIC6 Synonymous SNV P265P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.947 192810 chr21 36042492 36042492 A G rs13048804 CLIC6 Nonsynonymous SNV S269G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.323 192811 chr11 56954727 56954727 C T rs762114054 LRRC55 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 192812 chr11 804112 804112 G A rs573360451 PIDD1 Nonsynonymous SNV R93C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 192813 chr1 31897557 31897557 G A rs144695808 SERINC2 Nonsynonymous SNV G81R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.461 192814 chr21 37705973 37705973 T C MORC3 Synonymous SNV S23S 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 7.825 192815 chr3 187447428 187447428 G C BCL6 Nonsynonymous SNV H255Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.86 192816 chr21 41033333 41033333 G A rs151007676 B3GALT5 Nonsynonymous SNV A283T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.988 192817 chr20 62610741 62610741 C G rs781093787 SAMD10 Nonsynonymous SNV R27P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.9 192818 chr20 633686 633686 C T rs769918447 SRXN1 Synonymous SNV V48V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 192819 chr1 35370038 35370038 G A rs759110951 DLGAP3 Nonsynonymous SNV T316I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 192820 chr19 56029104 56029104 C T rs946877058 SSC5D Nonsynonymous SNV T1154I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.326 192821 chr1 37267490 37267490 T C GRIK3 Nonsynonymous SNV M908V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 192822 chr1 44438185 44438185 G A rs760454990 DPH2 Nonsynonymous SNV A254T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 192823 chr1 45110431 45110431 G A rs150936501 RNF220 Synonymous SNV V183V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.903 192824 chr1 45292177 45292177 A G PTCH2 Nonsynonymous SNV W987R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 192825 chr11 94731874 94731874 G A rs587636671 KDM4D Synonymous SNV P446P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.993 192826 chr3 195594931 195594931 C T rs200272067 TNK2 Synonymous SNV P763P 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 3.634 192827 chr11 94731905 94731905 C G rs144086807 KDM4D Nonsynonymous SNV P457A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 192828 chr11 60557949 60557949 C T rs760396522 MS4A10 Synonymous SNV H47H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.899 192829 chr1 45974001 45974001 C T rs121918241 MMACHC Stop gain R75X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 40 192830 chr1 210024567 210024567 C G rs143447736 UTP25 Nonsynonymous SNV I682M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 192831 chr1 40704751 40704751 T C rs1019258283 RLF Synonymous SNV S1459S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.061 192832 chr21 45821595 45821595 G A rs550484669 TRPM2 Nonsynonymous SNV A785T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.314 192833 chr22 38120229 38120229 C T rs755913140 TRIOBP Nonsynonymous SNV R556W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.49 192834 chr21 32554765 32554765 G A rs751660506 TIAM1 Nonsynonymous SNV P929S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.65 192835 chr3 20169025 20169025 C T KAT2B Nonsynonymous SNV S578L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 192836 chr22 38470975 38470975 G A rs749818794 PICK1 Nonsynonymous SNV V362I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 192837 chr21 34721527 34721527 G A rs17875833 IFNAR1 Nonsynonymous SNV V307I 0.003 0 0 0 3 0 0 0 0 0 0 0 18.69 192838 chr12 104238368 104238368 A T TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.287 192839 chr22 40801686 40801686 G A rs148778846 SGSM3 Nonsynonymous SNV E155K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 192840 chr12 104337551 104337551 A T rs141949667 HSP90B1 Nonsynonymous SNV E642D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 192841 chr1 44437411 44437411 A T DPH2 Nonsynonymous SNV R144S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.91 192842 chr12 104487183 104487183 G A rs202212280 HCFC2 Nonsynonymous SNV S435N 0 0 0.007 0 0 0 0 2 0 0 0 0 11.88 192843 chr3 33135575 33135575 C G rs762217240 TMPPE Nonsynonymous SNV R38T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.37 192844 chr3 37323522 37323522 C T rs373167384 GOLGA4 Nonsynonymous SNV P79L 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 33 192845 chr17 46196338 46196338 T C SNX11 Nonsynonymous SNV V102A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 192846 chr3 38357841 38357849 TGGCCTCGG - SLC22A14 S522_A524del 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 192847 chr22 45258325 45258325 G C ARHGAP8, PRR5-ARHGAP8 Synonymous SNV P384P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.982 192848 chr12 11138716 11138716 C T rs768600803 TAS2R50 Synonymous SNV S248S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 192849 chr1 55080465 55080465 T C rs137985840 FAM151A Synonymous SNV T161T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.679 192850 chr22 22599400 22599400 C T rs199900999 VPREB1 Nonsynonymous SNV S29F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 192851 chr22 50354660 50354660 C A rs772757757 PIM3 Nonsynonymous SNV P22Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 192852 chr1 64698318 64698318 A G UBE2U Nonsynonymous SNV Y194C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 192853 chr1 65047864 65047864 T C rs372089602 CACHD1 Nonsynonymous SNV F96S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 192854 chr11 66101617 66101617 C T rs764131497 RIN1 Nonsynonymous SNV R427Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 192855 chr12 117402536 117402536 C T rs202064358 FBXW8 Nonsynonymous SNV R172C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 192856 chr11 66360114 66360114 C T rs764561779 CCDC87 Nonsynonymous SNV E125K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 192857 chr11 66454559 66454559 C T rs750623875 SPTBN2 Nonsynonymous SNV V2268M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 192858 chr3 44285420 44285420 A G rs190882072 TOPAZ1 Synonymous SNV A474A 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 0.003 192859 chr11 67399310 67399310 C T TBX10 Synonymous SNV Q308Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.156 192860 chr22 26692911 26692911 C T rs757591644 SEZ6L Nonsynonymous SNV P343S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 192861 chr11 67431210 67431210 C T rs368400737 ALDH3B2 Nonsynonymous SNV R299Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.97 192862 chr3 46871905 46871905 A G rs774039996 PRSS42P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.6 192863 chr1 65858462 65858462 A C rs199937139 DNAJC6 Nonsynonymous SNV H606P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Uncertain significance 10.29 192864 chr11 68703960 68703960 C T rs377743886 IGHMBP2 Nonsynonymous SNV T671M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.425 192865 chr17 56621238 56621238 G - SEPTIN4 Stop gain L104* 0 0 0 1 0 0 0.003 0 0 0 0 0 192866 chr17 58236652 58236652 A T rs926018782 CA4 Nonsynonymous SNV N269I 0 0 0 1 0 0 0.003 0 0 0 0 0 24 192867 chr1 67889921 67889921 T C rs369566442 SERBP1 Synonymous SNV E260E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.157 192868 chr11 70007346 70007346 C - ANO1 S555Pfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 192869 chr11 70507842 70507842 C T rs149581714 SHANK2 Nonsynonymous SNV A11T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.05 192870 chr21 47864701 47864701 G A PCNT Nonsynonymous SNV V3115M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.39 192871 chr12 124824917 124824917 C T rs199692449 NCOR2 Nonsynonymous SNV R1794Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 192872 chr17 61842109 61842109 C A rs138459809 CCDC47 Synonymous SNV T121T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 192873 chr11 73789332 73789332 C G rs75137555 C2CD3 Nonsynonymous SNV R1477S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 192874 chr22 33327418 33327418 T G SYN3 Nonsynonymous SNV M140L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 192875 chr12 131475607 131475607 C A rs137909892 ADGRD1 Nonsynonymous SNV S265Y 0 0 0.01 1 0 0 0.003 3 0 0 0 0 17.55 192876 chr11 75917419 75917419 C G rs138104027 WNT11 Synonymous SNV L11L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.4 192877 chr11 76372263 76372263 C T rs140733002 LRRC32 Nonsynonymous SNV R15H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 192878 chr1 242042364 242042364 A G rs12122770 EXO1 Nonsynonymous SNV S610G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 21.3 192879 chr12 132491334 132491334 G T rs935429800 EP400 Nonsynonymous SNV K1072N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.22 192880 chr1 89237530 89237530 A G rs759522341 PKN2 Nonsynonymous SNV Y161C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.31 192881 chr1 914988 914988 C T rs574378330 PERM1 Synonymous SNV A474A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.06 192882 chr22 24086438 24086438 C T rs201324895 ZNF70 Nonsynonymous SNV R297Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 192883 chr17 708320 708320 C T rs775415213 NXN Nonsynonymous SNV V222I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 192884 chr12 2039238 2039238 G A rs111237959 LINC00940 0 0 0.037 0 0 0 0 11 0 0 4 0 2.518 192885 chr22 24583953 24583953 C T rs149830913 SUSD2 Nonsynonymous SNV P731S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 192886 chr22 26286750 26286750 G A rs202224239 MYO18B Nonsynonymous SNV D1449N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 192887 chr3 57291038 57291038 A G rs34128429 APPL1 Synonymous SNV P402P 0.003 0.01 0 2 4 4 0.005 0 0 0 0 0 Benign 3.006 192888 chr3 58092578 58092578 C T rs62621999 FLNB Nonsynonymous SNV T640M 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign/Likely benign 22.9 192889 chr3 58107011 58107011 G A rs138449267 FLNB Synonymous SNV R969R 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 10.64 192890 chr3 58121794 58121794 G A rs756266678 FLNB Nonsynonymous SNV R1587H 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 35 192891 chr17 72348372 72348372 G A rs765223122 KIF19 Nonsynonymous SNV V625I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 192892 chr22 31583100 31583100 C T rs201108552 RNF185 Nonsynonymous SNV S7L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 192893 chr11 101833782 101833782 C T CEP126 Synonymous SNV N672N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.089 192894 chr22 37159993 37159993 G A rs143842386 IFT27 Nonsynonymous SNV R108W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 192895 chr12 48137359 48137359 A G rs140273815 RAPGEF3 Synonymous SNV D551D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.637 192896 chr12 48179612 48179612 C A rs755395947 HDAC7 Nonsynonymous SNV A840S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 192897 chr11 107968430 107968430 A G rs146396823 CUL5 Nonsynonymous SNV K658R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.32 192898 chr11 108032167 108032167 T C rs189775078 NPAT Nonsynonymous SNV N1223D 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 18.51 192899 chr22 37904618 37904618 C T rs149544125 CARD10 Synonymous SNV E327E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 15.73 192900 chr20 19981343 19981343 T C rs952049958 RIN2 Synonymous SNV D817D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.107 192901 chr17 74273282 74273282 C G rs140269579 QRICH2 Nonsynonymous SNV G1577R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 192902 chr17 74289759 74289759 G A rs140207583 QRICH2 Nonsynonymous SNV S184L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.44 192903 chr11 111590605 111590605 C T rs35789057 SIK2 Nonsynonymous SNV T458I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 192904 chr4 100532591 100532591 C G rs745718494 MTTP Nonsynonymous SNV A684G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.16 192905 chr11 111779648 111779648 C T rs782206421 CRYAB Nonsynonymous SNV R56Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 192906 chr12 50747441 50747441 C A FAM186A Synonymous SNV L1058L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.473 192907 chr22 40704556 40704556 G A rs186787777 TNRC6B Synonymous SNV G1277G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 192908 chr17 76446417 76446417 C T rs185361296 DNAH17 Synonymous SNV P3653P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.13 192909 chr4 110605702 110605702 C A rs140165515 MCUB Nonsynonymous SNV T239K 0 0.003 0 0 0 1 0 0 0 0 0 0 35 192910 chr2 100917225 100917225 C T rs373599250 LONRF2 Nonsynonymous SNV A316T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 192911 chr11 114441735 114441735 A G rs751831386 NXPE4 Synonymous SNV Y520Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.165 192912 chr4 110884396 110884396 A G rs11568953 EGF Synonymous SNV E418E 0.009 0.01 0.01 1 10 4 0.003 3 0 0 0 0 Benign 9.931 192913 chr17 76570986 76570986 G C DNAH17 Nonsynonymous SNV L52V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.52 192914 chr20 3147499 3147499 C T rs369777445 LZTS3 Nonsynonymous SNV R104Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 192915 chr17 77709256 77709256 G T rs137880916 ENPP7 Nonsynonymous SNV D272Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25 192916 chr2 103414410 103414410 C T rs140175654 TMEM182 Synonymous SNV F44F 0.001 0 0 0 1 0 0 0 0 0 0 0 15 192917 chr17 77711788 77711788 G T rs782213260 ENPP7 Nonsynonymous SNV R440S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.452 192918 chr11 118376922 118376922 G A rs782115031 KMT2A Nonsynonymous SNV G3439S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.694 192919 chr11 118376923 118376923 G C rs782363038 KMT2A Nonsynonymous SNV G3439A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 192920 chr11 118377298 118377298 G A rs782763989 KMT2A Nonsynonymous SNV R3564Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 192921 chr12 53217752 53217752 C T KRT79 Synonymous SNV L355L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 192922 chr20 31958377 31958377 G A rs139039517 CDK5RAP1 Synonymous SNV H363H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.56 192923 chr17 78184432 78184432 C T rs377605690 SGSH Nonsynonymous SNV R443Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.315 192924 chr2 179360341 179360341 A C rs146862822 PLEKHA3 Nonsynonymous SNV H190P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.27 192925 chr2 179437523 179437523 G A rs189768015 TTN Synonymous SNV L15381L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 6.499 192926 chr20 33584955 33584955 G C rs764560311 MYH7B Nonsynonymous SNV Q1154H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 192927 chr2 179579042 179579042 C T rs778500616 TTN Nonsynonymous SNV C7576Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 192928 chr2 179599504 179599504 A G rs774593004 TTN Synonymous SNV S3805S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.122 192929 chr22 50615417 50615417 G A rs150278474 PANX2 Synonymous SNV A92A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.388 192930 chr12 54448727 54448727 A G rs35406888 HOXC4 Nonsynonymous SNV N178S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 192931 chr20 34568470 34568470 G A rs555284126 CNBD2 Synonymous SNV L111L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.434 192932 chr20 34765883 34765883 C T rs559868386 EPB41L1 Nonsynonymous SNV R56W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 192933 chr22 50671835 50671835 C T rs141805017 TUBGCP6 Synonymous SNV P342P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.63 192934 chr2 120231110 120231110 T C rs41279774 SCTR Synonymous SNV T108T 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 4.234 192935 chr17 80046134 80046134 G A rs138286707 FASN Synonymous SNV D881D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.607 192936 chr2 121744056 121744056 G A rs149091975 GLI2 Nonsynonymous SNV R578H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 192937 chr17 80151859 80151859 G A rs201633568 CCDC57 Nonsynonymous SNV R259W 0 0 0 1 0 0 0.003 0 0 0 0 0 19.78 192938 chr2 102808553 102808553 T A rs778142281 IL1RL2 Stop gain C154X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 192939 chr12 60168777 60168777 A C SLC16A7 Nonsynonymous SNV N234T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.669 192940 chr4 156135288 156135288 T C rs147403709 NPY2R Nonsynonymous SNV I66T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.49 192941 chr2 1946770 1946770 - TCC rs750009773 MYT1L E167_N168insE 0 0.005 0 0 0 2 0 0 0 0 0 0 192942 chr2 10803113 10803113 C T rs141929424 NOL10 Nonsynonymous SNV A191T 0.002 0 0 0 2 0 0 0 0 0 0 0 23 192943 chr2 197653958 197653958 C T GTF3C3 Nonsynonymous SNV R288H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.3 192944 chr20 47645165 47645165 C A ARFGEF2 Nonsynonymous SNV R1675S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 192945 chr20 48894093 48894093 C T rs184382568 SMIM25 Synonymous SNV P44P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.045 192946 chr20 52789533 52789533 C G rs762334108 CYP24A1 Nonsynonymous SNV E122Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 192947 chr12 6933743 6933743 G A rs782086655 GPR162 Nonsynonymous SNV A227T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.085 192948 chr12 69646849 69646849 T C rs139325535 CPSF6 Synonymous SNV L97L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 7.232 192949 chr20 55100014 55100014 G A rs980714857 FAM209A Synonymous SNV E50E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.713 192950 chr20 57599399 57599399 G A rs772479017 TUBB1 Nonsynonymous SNV R306H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 192951 chr20 58587603 58587603 C G rs142001408 CDH26 Nonsynonymous SNV L65V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.47 192952 chr12 663011 663011 G A rs138791810 B4GALNT3 Nonsynonymous SNV R641Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.701 192953 chr12 80616011 80616011 C T rs191608225 OTOGL Nonsynonymous SNV R150W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 192954 chr2 209345821 209345821 G A rs182530906 PTH2R Synonymous SNV T225T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.9 192955 chr2 21001105 21001105 A G rs148286623 LDAH Nonsynonymous SNV V40A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 192956 chr12 1702971 1702971 C T rs144961632 FBXL14 Nonsynonymous SNV G88S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 192957 chr12 1741854 1741854 C T WNT5B Synonymous SNV P37P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 192958 chr2 133540550 133540550 G A rs376005925 NCKAP5 Synonymous SNV F1278F 0.002 0 0 0 2 0 0 0 0 0 0 0 5.59 192959 chr2 165586522 165586522 A G rs749993306 COBLL1 Nonsynonymous SNV F112L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 192960 chr2 165796019 165796019 A G rs138491284 SLC38A11 Nonsynonymous SNV S38P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.4 192961 chr18 33607025 33607025 T C RPRD1A Synonymous SNV G209G 0 0 0 3 0 0 0.008 0 0 0 0 0 1.191 192962 chr2 216269216 216269216 T C rs144581583 FN1 Nonsynonymous SNV K1050R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.289 192963 chr20 62187647 62187647 G A rs752543942 FNDC11 Nonsynonymous SNV V211M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 192964 chr20 62292765 62292765 G T rs774311444 RTEL1 Nonsynonymous SNV A73S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.2 192965 chr2 219562605 219562605 G A rs749966354 STK36 Nonsynonymous SNV V959M 0 0.003 0 0 0 1 0 0 0 0 0 0 19.79 192966 chr2 159197119 159197119 T C rs756776997 CCDC148 Nonsynonymous SNV T109A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 192967 chr2 220316371 220316371 C A SPEG Nonsynonymous SNV A761E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.386 192968 chr4 36152624 36152624 C T rs373750680 ARAP2 Nonsynonymous SNV S932N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.3 192969 chr2 220379121 220379121 C A ASIC4 Stop gain S19X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 192970 chr20 62575795 62575795 C G rs17853156 UCKL1 Synonymous SNV V272V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.89 192971 chr13 103398590 103398590 G A rs1021686310 CCDC168 Nonsynonymous SNV A1486V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.963 192972 chr13 106118714 106118714 G A DAOA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.305 192973 chr21 28296738 28296738 G A rs11911960 ADAMTS5 Synonymous SNV S809S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 7.911 192974 chr13 110437540 110437540 G A rs751575384 IRS2 Synonymous SNV I287I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 192975 chr18 57020511 57020511 C T LMAN1 Nonsynonymous SNV A188T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 192976 chr12 10045656 10045656 C T rs187962745 KLRF2 Synonymous SNV N85N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 192977 chr21 31709731 31709731 G A rs144648271 KRTAP27-1 Stop gain Q86X 0.003 0 0.007 0 3 0 0 2 0 0 1 0 33 192978 chr4 46060535 46060535 G A rs142799145 GABRG1 Nonsynonymous SNV R244W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 192979 chr13 114469164 114469164 C T rs145271168 TMEM255B Synonymous SNV T41T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 192980 chr21 34925781 34925781 C T rs201445156 SON Nonsynonymous SNV P1415L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 192981 chr2 172582522 172582522 A G rs191937412 DYNC1I2 Nonsynonymous SNV E226G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.1 192982 chr21 36081681 36081681 C T rs373486130 CLIC6 Synonymous SNV L582L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.05 192983 chr21 38137322 38137322 G C HLCS Synonymous SNV P704P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.494 192984 chr13 24823622 24823622 C T SPATA13 Nonsynonymous SNV P554L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 192985 chr12 13364476 13364476 T G rs147282605 EMP1 Nonsynonymous SNV V11G 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 27.4 192986 chr12 13364477 13364477 C T rs2291061 EMP1 Synonymous SNV V11V 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 14.78 192987 chr18 74154674 74154674 C T rs766693833 ZNF516 Nonsynonymous SNV A113T 0 0 0 3 0 0 0.008 0 0 0 0 0 24 192988 chr18 74154675 74154675 G A rs868296674 ZNF516 Synonymous SNV D112D 0 0 0 3 0 0 0.008 0 0 0 0 0 5.724 192989 chr2 179648805 179648805 C T rs369195237 TTN Nonsynonymous SNV E877K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 192990 chr21 43325863 43325863 C T rs140022230 C2CD2 Nonsynonymous SNV V313I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.6 192991 chr18 77623856 77623856 C T KCNG2 Synonymous SNV D63D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.87 192992 chr13 31495895 31495895 G C MEDAG Nonsynonymous SNV E233D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 192993 chr2 186664813 186664813 G A rs764266188 FSIP2 Nonsynonymous SNV G3594R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.667 192994 chr13 39544348 39544348 G A rs145475983 STOML3 Stop gain R164X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 36 192995 chr13 41134286 41134286 T C FOXO1 Nonsynonymous SNV S448G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.757 192996 chr2 18764161 18764161 G A rs183534911 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV R334W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 192997 chr13 42385421 42385421 C T rs138075452 VWA8 Nonsynonymous SNV R668Q 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Likely pathogenic 34 192998 chr13 46170925 46170925 C T rs188748256 ERICH6B Synonymous SNV E72E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.613 192999 chr4 76573917 76573917 G A rs139334533 G3BP2 Synonymous SNV V245V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 193000 chr4 76794421 76794421 G C PPEF2 Nonsynonymous SNV C455W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 193001 chr21 45711006 45711006 G A rs139808903 AIRE Nonsynonymous SNV R303Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 22.4 193002 chr2 242035510 242035512 TCC - rs762292030 MTERF4 E161del 0 0.005 0 0 0 2 0 0 0 0 0 0 193003 chr13 48575357 48575357 G C rs200124902 SUCLA2 Nonsynonymous SNV R17G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.75 193004 chr21 46314967 46314967 G A rs61737081 ITGB2 Synonymous SNV T334T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 6.331 193005 chr1 201163379 201163379 C T rs147277196 IGFN1 Synonymous SNV P35P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.82 193006 chr2 25057398 25057398 G A rs144816894 ADCY3 Synonymous SNV V641V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.63 193007 chr21 46888225 46888225 C T rs200842530 COL18A1 Nonsynonymous SNV T239M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.66 193008 chr2 26177138 26177138 G A rs374382929 KIF3C Synonymous SNV L629L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.68 193009 chr4 79461921 79461921 G A rs376389151 FRAS1 Synonymous SNV A3894A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.763 193010 chr13 76395342 76395342 C T rs76082815 LMO7 Nonsynonymous SNV P419L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.56 193011 chr2 26693554 26693556 CTT - rs759676287 OTOF K620del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 193012 chr13 88329585 88329585 G A rs1033773334 SLITRK5 Nonsynonymous SNV A648T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15 193013 chr2 202964518 202964518 C T rs999918339 KIAA2012 Synonymous SNV S337S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.433 193014 chr21 47754537 47754614 CACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACA - PCNT M53_G78del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 193015 chr19 12461726 12461726 G A rs61735341 ZNF442 Nonsynonymous SNV R156C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 193016 chr13 99354751 99354751 T C rs550700409 SLC15A1 Synonymous SNV K483K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 193017 chr2 27606873 27606873 G A rs138986348 PPM1G Synonymous SNV D304D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.41 193018 chr19 1371246 1371246 G A rs982749574 PWWP3A Nonsynonymous SNV E651K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.626 193019 chr22 19960346 19960346 G C rs1021528226 ARVCF Nonsynonymous SNV A852G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.37 193020 chr2 207173160 207173160 C T rs144699200 ZDBF2 Nonsynonymous SNV A1303V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.544 193021 chr2 207530722 207530722 C G DYTN Nonsynonymous SNV D338H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 193022 chr19 14271041 14271041 G A rs145941703 ADGRL1 Synonymous SNV Y561Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.509 193023 chr12 49443572 49443572 T C KMT2D Nonsynonymous SNV T1267A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 193024 chr19 1488214 1488214 G A rs138042900 PCSK4 Synonymous SNV D120D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.574 193025 chr4 89393631 89393631 A G HERC5 Nonsynonymous SNV Q457R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 193026 chr2 32445326 32445326 A G rs368073848 SLC30A6 Synonymous SNV Q113Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.574 193027 chr2 211019063 211019063 A G rs781127593 KANSL1L Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.104 193028 chr2 3392127 3392127 C T rs200381361 TRAPPC12 Nonsynonymous SNV P245S 0.003 0.008 0.01 0 3 3 0 3 0 0 0 0 14.01 193029 chr19 15510219 15510219 C G rs199945436 AKAP8L Nonsynonymous SNV A290P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 9.639 193030 chr20 3651739 3651739 G A rs535922941 ADAM33 Synonymous SNV A692A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.761 193031 chr20 36641361 36641361 C T rs142838032 TTI1 Synonymous SNV K286K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 7.483 193032 chr22 24984215 24984215 C G rs62231188 LRRC75B Nonsynonymous SNV G130A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.632 193033 chr14 20837714 20837714 C T rs376642082 TEP1 Nonsynonymous SNV S2374N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 193034 chr12 52788877 52788877 A G rs779140478 KRT82 Nonsynonymous SNV V475A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 2.182 193035 chr22 25294247 25294247 C T rs202233643 SGSM1 Synonymous SNV A716A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.73 193036 chr14 21465141 21465141 T C LOC101929718 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 193037 chr2 44170979 44170979 G C rs141384427 LRPPRC Nonsynonymous SNV T784R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.472 193038 chr12 53008295 53008295 A G rs541124793 KRT73-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.685 193039 chr2 53977937 53977937 G A rs540542893 ASB3, GPR75-ASB3 Nonsynonymous SNV T40M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 193040 chr14 23299146 23299146 T C rs146757783 MRPL52 Nonsynonymous SNV F9L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.028 193041 chr20 43565319 43565319 G C PABPC1L Synonymous SNV L536L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.706 193042 chr12 53450827 53450827 G A TNS2 Nonsynonymous SNV M274I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 193043 chr2 224642493 224642493 G A rs138292988 AP1S3 Nonsynonymous SNV R33W 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 34 193044 chr2 61621999 61621999 C G rs750333806 USP34 Nonsynonymous SNV V248L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.68 193045 chr12 53586166 53586166 - AAG ITGB7 F700_L701insF 0.001 0.003 0 0 1 1 0 0 0 0 0 0 193046 chr2 228228494 228228494 G A rs151133854 TM4SF20 Synonymous SNV I212I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.04 193047 chr14 24785055 24785055 C T rs139523744 LTB4R Synonymous SNV A66A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.97 193048 chr5 132269927 132269927 C G rs141068875 AFF4 Nonsynonymous SNV S277T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16.28 193049 chr12 56811977 56811977 - GTGCTCG TIMELESS Frameshift insertion Q1131Pfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 193050 chr20 55020993 55020993 T G CASS4 Nonsynonymous SNV L112R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 193051 chr20 55803316 55803316 C T rs199551942 BMP7 Nonsynonymous SNV V194I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 193052 chr14 37198726 37198726 G A rs199707492 SLC25A21 Synonymous SNV L106L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.516 193053 chr22 38219519 38219519 G T rs750462621 GALR3 Nonsynonymous SNV G36W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 193054 chr22 38240167 38240167 G T ANKRD54 Nonsynonymous SNV P27T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.1 193055 chr22 38240168 38240168 C T ANKRD54 Synonymous SNV A26A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.99 193056 chr22 42992303 42992303 A T rs369338847 POLDIP3 Nonsynonymous SNV D205E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 193057 chr2 237489711 237489711 C T rs144225712 ACKR3 Synonymous SNV P201P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.9 193058 chr14 52526949 52526949 C T rs112074664 NID2 Synonymous SNV Q220Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 193059 chr14 52741504 52741504 A C rs41312504 PTGDR Nonsynonymous SNV E301A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.713 193060 chr2 8873597 8873597 G A rs752925928 KIDINS220 Nonsynonymous SNV R1288C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 193061 chr2 241976739 241976739 G A rs191288474 SNED1 Synonymous SNV P338P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 7.549 193062 chr2 97482681 97482681 C G rs560855336 CNNM3 Nonsynonymous SNV P223A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 193063 chr2 242619732 242619732 G - rs778100994 DTYMK P81Rfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 193064 chr14 64009605 64009605 G A rs1013150969 LOC112268140 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 193065 chr2 25505549 25505549 G A rs746884153 DNMT3A Nonsynonymous SNV A70V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 193066 chr14 64691206 64691206 G A rs150644129 SYNE2 Nonsynonymous SNV D326N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.4 193067 chr14 67768828 67768828 T C rs142290619 MPP5 Nonsynonymous SNV I231T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.29 193068 chr22 50942270 50942270 C T rs149194476 LMF2 Synonymous SNV T569T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.03 193069 chr19 36387659 36387659 C T rs201493110 NFKBID Nonsynonymous SNV R91Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.43 193070 chr12 102158547 102158547 C T rs374600127 GNPTAB Synonymous SNV L716L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.314 193071 chr19 37240295 37240295 A T rs567943938 ZNF850 Synonymous SNV I517I 0.005 0 0.003 4 6 0 0.01 1 0 0 0 0 0.02 193072 chr14 77492192 77492192 A T IRF2BPL Synonymous SNV S648S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 193073 chr2 10904524 10904524 C T rs143556651 ATP6V1C2 Synonymous SNV L117L 0.003 0.005 0.003 0 3 2 0 1 0 1 0 0 15.71 193074 chr14 77873944 77873944 C T rs375791518 NOXRED1 Nonsynonymous SNV D132N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 193075 chr14 80993272 80993272 G A rs377371402 CEP128 Nonsynonymous SNV R1005C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 193076 chr19 3806113 3806113 C T rs780942238 ZFR2 Nonsynonymous SNV R885Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 193077 chr2 113483862 113483862 T C NT5DC4 Nonsynonymous SNV Y369H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.608 193078 chr3 121828181 121828181 T C rs115021223 CD86 Nonsynonymous SNV I146T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.123 193079 chr3 122003570 122003570 A G rs199508670 CASR Synonymous SNV P923P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 0.326 193080 chr14 89291147 89291147 G A rs759526634 TTC8 Synonymous SNV E32E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 193081 chr14 91808769 91808769 C G rs781153917 CCDC88C Nonsynonymous SNV Q146H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 193082 chr14 91808788 91808788 A T CCDC88C Nonsynonymous SNV F140Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 193083 chr2 111542383 111542383 A C rs200338206 ACOXL Synonymous SNV T50T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.736 193084 chr2 61541854 61541854 T C rs773787078 USP34 Synonymous SNV Q1136Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.174 193085 chr2 43992656 43992656 C G rs200378177 PLEKHH2 Synonymous SNV T1467T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 193086 chr12 112843167 112843167 G A rs138678598 RPL6 Nonsynonymous SNV T243M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 193087 chr14 93151385 93151385 G A rs749336521 RIN3 Nonsynonymous SNV D766N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 193088 chr2 63223855 63223855 C A rs572501268 EHBP1 Synonymous SNV T1019T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.7 193089 chr2 48808142 48808142 C G STON1, STON1-GTF2A1L Nonsynonymous SNV L124V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 193090 chr5 170222361 170222361 C T GABRP Synonymous SNV L130L 0.003 0.005 0 0 4 2 0 0 0 0 0 0 14.93 193091 chr2 55254327 55254327 G A rs143123978 RTN4 Nonsynonymous SNV S97L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 193092 chr12 117710246 117710246 C T rs41356652 NOS1 Nonsynonymous SNV G259S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 26.4 193093 chr14 95109952 95109952 C T rs61740321 SERPINA13P 0 0 0.027 0 0 0 0 8 0 0 0 0 8.533 193094 chr14 95582088 95582088 T A DICER1 Nonsynonymous SNV D608V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.4 193095 chr2 55808705 55808705 - AC PPP4R3B Frameshift insertion N455Vfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 193096 chr2 55808708 55808711 TTGT - PPP4R3B T453Lfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 193097 chr3 12858158 12858158 C T rs145281444 CAND2 Nonsynonymous SNV A483V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.79 193098 chr12 120621425 120621425 G A rs184158504 GCN1 Nonsynonymous SNV R125C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.7 193099 chr3 129123105 129123105 T - rs749419016 EFCAB12 K464Rfs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 193100 chr12 120653417 120653417 G A rs188662174 PXN Synonymous SNV A293A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.542 193101 chr21 44313454 44313454 C G rs77606940 NDUFV3 Nonsynonymous SNV P4R 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Likely benign 0.889 193102 chr3 130125119 130125119 A G rs756847020 COL6A5 Nonsynonymous SNV H1478R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 193103 chr19 42819216 42819216 C T rs202014709 TMEM145 Synonymous SNV S178S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.43 193104 chr2 74454682 74454682 C T rs771824648 SLC4A5 Nonsynonymous SNV G976R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.361 193105 chr12 121756406 121756406 G A rs141486437 ANAPC5 Nonsynonymous SNV A436V 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 193106 chr2 73195646 73195646 G A rs149206069 SFXN5 Nonsynonymous SNV A230V 0.004 0 0 0 5 0 0 0 0 0 0 0 32 193107 chr15 25485057 25485057 G A rs777075182 SNORD115-38 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 193108 chr5 180030222 180030222 G A rs762533367 FLT4 Synonymous SNV R1354R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 8.145 193109 chr15 33855176 33855176 G A rs771648147 RYR3 Nonsynonymous SNV A371T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 193110 chr12 124272382 124272382 T C rs139225647 DNAH10 Synonymous SNV L485L 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 Benign 0.003 193111 chr3 139063562 139063562 T C rs751647895 MRPS22 0 0.003 0 0 0 1 0 0 0 0 0 0 4.593 193112 chr2 160801579 160801579 A C rs140724891 PLA2R1 Nonsynonymous SNV W1326G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.2 193113 chr12 124419955 124419955 C T rs376425800 DNAH10 Nonsynonymous SNV A4448V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 193114 chr15 40648387 40648387 G A PHGR1 Synonymous SNV G44G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.084 193115 chr15 40912983 40912985 CCA - rs763228489 KNL1 T175del 0 0 0.003 0 0 0 0 1 0 0 0 0 193116 chr19 44934152 44934152 G A rs187396500 ZNF229 Synonymous SNV N262N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 4.143 193117 chr15 40937938 40937938 G T rs200052077 KNL1 Nonsynonymous SNV A1992S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.95 193118 chr2 162280394 162280394 G C rs764452041 TBR1 Nonsynonymous SNV A569P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 193119 chr15 42981139 42981139 G A rs373763603 STARD9 Nonsynonymous SNV G2455S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 193120 chr19 46002037 46002037 G A rs536276711 PPM1N Nonsynonymous SNV D103N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 193121 chr15 44966393 44966393 A C rs778263353 PATL2 Synonymous SNV P86P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 193122 chr13 20978863 20978863 C T rs145530540 CRYL1 Nonsynonymous SNV D199N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 193123 chr19 46733641 46733641 G C IGFL1 Nonsynonymous SNV A64P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.712 193124 chr2 177036926 177036926 C T rs374462578 HOXD3 Nonsynonymous SNV P408L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 193125 chr3 111795778 111795778 G T rs368213654 TMPRSS7 Nonsynonymous SNV A545S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 193126 chr19 47440545 47440545 T G rs11548675 ARHGAP35 Nonsynonymous SNV S1236A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.61 193127 chr5 60224737 60224737 C T rs794727233 ERCC8 Nonsynonymous SNV G43S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Uncertain significance 8.16 193128 chr3 113172687 113172687 T C rs138775235 SPICE1 Nonsynonymous SNV I590V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 193129 chr2 179472208 179472208 C T rs766817830 TTN Nonsynonymous SNV R8671Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 193130 chr3 183696423 183696423 C T rs199949072 ABCC5 Synonymous SNV E388E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.63 193131 chr3 119911827 119911827 G A rs144300001 GPR156 Nonsynonymous SNV L145F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 193132 chr2 179593711 179593711 T C rs569003242 TTN Nonsynonymous SNV R5108G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.601 193133 chr13 41134019 41134019 G A rs146488369 FOXO1 Nonsynonymous SNV R537C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 193134 chr2 184024313 184024313 G T NUP35 Nonsynonymous SNV S279I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 193135 chr13 43986106 43986106 T C rs754912517 ENOX1 Nonsynonymous SNV M87V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 193136 chr3 124456892 124456892 C A UMPS Nonsynonymous SNV A263D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 193137 chr15 72143676 72143676 T C rs375629470 MYO9A Nonsynonymous SNV I2167V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 193138 chr15 74336858 74336858 G A rs762061870 PML Nonsynonymous SNV G720R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.516 193139 chr3 12573136 12573136 G A rs200786413 TSEN2 Nonsynonymous SNV C413Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 193140 chr22 38120712 38120712 C G rs186620158 TRIOBP Nonsynonymous SNV Q717E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.002 193141 chr13 52513198 52513198 T C rs200911496 ATP7B Nonsynonymous SNV I1023V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 193142 chr3 126214885 126214885 C T rs142539456 UROC1 Nonsynonymous SNV R502Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 193143 chr3 128890080 128890080 G A CNBP Synonymous SNV D88D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.615 193144 chr15 75647072 75647072 C T rs747060415 NEIL1 Nonsynonymous SNV R425W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 193145 chr19 51506372 51506372 T G KLK9 Nonsynonymous SNV N250H 0 0 0 2 0 0 0.005 0 0 0 0 0 13.13 193146 chr15 78463790 78463790 - T ACSBG1 Frameshift insertion M720Nfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 193147 chr13 73349358 73349359 TG - rs771443934 DIS3 T203Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 193148 chr13 73349364 73349364 T - rs774316130 DIS3 E202Rfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 193149 chr19 52033087 52033087 G A rs750467976 SIGLEC6 Synonymous SNV T249T 0 0 0 2 0 0 0.005 0 0 0 0 0 4.517 193150 chr3 130293204 130293204 A G rs767177395 COL6A6 Nonsynonymous SNV R1128G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.187 193151 chr3 130188120 130188120 C T rs200043336 COL6A5 Synonymous SNV D2424D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.391 193152 chr3 130851600 130851600 A T NEK11 Nonsynonymous SNV H8L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 193153 chr19 52537650 52537650 A T rs148494106 ZNF432 Nonsynonymous SNV S428T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 193154 chr13 103383199 103383199 A C rs554138507 CCDC168 Synonymous SNV L6616L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.206 193155 chr1 68947181 68947181 C T rs149513392 DEPDC1 Nonsynonymous SNV R342Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 193156 chr22 44328821 44328821 G A rs201295166 PNPLA3 Nonsynonymous SNV V184M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 193157 chr3 38354599 38354599 C T rs138458505 SLC22A14 Synonymous SNV L352L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.771 193158 chr3 135863887 135863887 T A rs758963616 PPP2R3A Nonsynonymous SNV F375Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 193159 chr2 207632053 207632053 A G rs565809308 FASTKD2 Synonymous SNV A212A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 193160 chr22 45244837 45244837 C T rs528651618 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV Y258Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 9.884 193161 chr3 13661319 13661319 G A rs200141144 FBLN2 Nonsynonymous SNV V715M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 193162 chr3 141161266 141161266 C T rs773460161 ZBTB38 Synonymous SNV D12D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.19 193163 chr1 79392740 79392740 A G rs561425488 ADGRL4 Nonsynonymous SNV I305T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 193164 chr6 116441501 116441501 A G COL10A1 Nonsynonymous SNV I593T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.5 193165 chr22 46671307 46671307 C - rs371709747 TTC38 Stop gain L178* 0.005 0.003 0 0 6 1 0 0 0 0 0 0 193166 chr3 138178799 138178799 C T rs147568505 ESYT3 Synonymous SNV L221L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.94 193167 chr13 111980580 111980580 C G TEX29 Nonsynonymous SNV R37G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 193168 chr13 111980581 111980581 G A rs781602465 TEX29 Nonsynonymous SNV D12N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 193169 chr6 117642495 117642495 C T rs9489124 ROS1 Nonsynonymous SNV E1902K 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 24.4 193170 chr2 208994188 208994188 G A rs746609116 CRYGC Nonsynonymous SNV R77C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 193171 chr6 119221980 119221980 C T rs552333381 ASF1A Synonymous SNV Y53Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 193172 chr13 113978785 113978785 C T rs752626539 GRTP1 Nonsynonymous SNV V224I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.663 193173 chr3 43122912 43122912 C T rs368531523 POMGNT2 Synonymous SNV S4S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.104 193174 chr2 210650897 210650897 C T UNC80 Synonymous SNV I236I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.73 193175 chr3 142681233 142681233 T C rs138764487 PAQR9 Nonsynonymous SNV I316V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.169 193176 chr13 115064434 115064434 A C rs765709351 UPF3A Nonsynonymous SNV K121N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 193177 chr15 93588834 93588834 G A rs201321524 RGMA Synonymous SNV N233N 0 0 0.007 0 0 0 0 2 0 0 0 0 7.031 193178 chr19 54976403 54976403 G C rs78611575 CDC42EP5 Nonsynonymous SNV A110G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.53 193179 chr16 1034975 1034975 C T rs898502037 SOX8 Synonymous SNV A310A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.454 193180 chr6 130425660 130425660 C T L3MBTL3 Nonsynonymous SNV P584L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 193181 chr14 20846990 20846990 G A TEP1 Stop gain Q1651X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 193182 chr19 55915707 55915707 G A rs140028988 UBE2S Synonymous SNV N97N 0 0 0 2 0 0 0.005 0 0 0 0 0 12.11 193183 chr16 13307143 13307143 T A rs1034595113 SHISA9 Nonsynonymous SNV L294H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 193184 chr3 172059010 172059010 G A FNDC3B Nonsynonymous SNV G654R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 193185 chr16 1397919 1397919 T C BAIAP3 Nonsynonymous SNV V981A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 193186 chr2 220040974 220040974 C T rs374847365 CNPPD1 Nonsynonymous SNV S50N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.44 193187 chr3 48691153 48691153 C G rs146031238 CELSR3 Nonsynonymous SNV V1783L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 193188 chr6 143091348 143091348 A C rs757944681 HIVEP2 Nonsynonymous SNV S1510A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 193189 chr6 143091738 143091738 T C HIVEP2 Nonsynonymous SNV T1380A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.26 193190 chr3 49210472 49210472 C T KLHDC8B Synonymous SNV V90V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.91 193191 chr2 220337640 220337640 G T rs55876679 SPEG Nonsynonymous SNV Q1323H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.3 193192 chr2 220337788 220337788 C G rs200713879 SPEG Nonsynonymous SNV P1373A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.062 193193 chr19 56373521 56373521 - TAGCGTAAGTCTCCGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTA NLRP4 Stop gain L730* 0 0.003 0 2 0 1 0.005 0 0 0 0 0 193194 chr19 56373521 56373521 - TAGTGTAAGTCTCCGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTA NLRP4 Stop gain A729Vfs*2 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 193195 chr14 23847590 23847590 G A rs761112189 CMTM5 Synonymous SNV T53T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 193196 chr2 223917645 223917645 G A KCNE4 Nonsynonymous SNV G84S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.47 193197 chr3 52551020 52551020 G C rs148813104 STAB1 Nonsynonymous SNV G1462R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23.3 193198 chr2 227872887 227872887 C T rs77104306 COL4A4 Nonsynonymous SNV M1552I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.7 193199 chr3 184019741 184019741 A G rs141270952 PSMD2 Nonsynonymous SNV M66V 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 193200 chr2 227912247 227912247 G A rs79143859 COL4A4 Nonsynonymous SNV A1078V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.6 193201 chr2 227942776 227942776 C T rs114684841 COL4A4 Synonymous SNV A607A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.23 193202 chr3 186449366 186449366 C T rs543905546 KNG1 Synonymous SNV I199I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.2 193203 chr2 234730800 234730800 G A rs772393040 MROH2A Synonymous SNV S1181S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.1 193204 chr2 234737344 234737344 T C rs749788303 MROH2A Synonymous SNV G1396G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 193205 chr16 25180467 25180467 - TG LCMT1 Frameshift insertion E188Vfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 193206 chr3 69105031 69105031 G A UBA3 Nonsynonymous SNV T384I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 193207 chr16 27500473 27500473 C G rs201044354 GTF3C1 Nonsynonymous SNV G1107A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 193208 chr16 2868763 2868763 T G rs780602350 PRSS21 Nonsynonymous SNV Y113D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 193209 chr16 2868764 2868764 A C rs747292318 PRSS21 Nonsynonymous SNV Y113S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 193210 chr16 2892622 2892622 C T rs147836673 PRSS30P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.177 193211 chr14 45542740 45542740 T C rs947762791 TOGARAM1 Synonymous SNV D1713D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 193212 chr20 32873434 32873434 G A rs144383493 AHCY Nonsynonymous SNV R327W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 23.6 193213 chr20 35422351 35422351 C T rs752654040 SOGA1 Synonymous SNV V1378V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 193214 chr16 3724415 3724415 G A TRAP1 Synonymous SNV D270D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.854 193215 chr2 242063458 242063458 C T rs56139954 PASK Nonsynonymous SNV R937H 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 24.4 193216 chr3 38163606 38163606 - CAAA rs577236284 DLEC1 Frameshift insertion S1694Kfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 193217 chr16 46755071 46755071 T C rs747154291 MYLK3 Nonsynonymous SNV H309R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 193218 chr2 26678082 26678082 A C rs115095929 DRC1 Nonsynonymous SNV Q716P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 25.1 193219 chr2 26688572 26688572 G A rs80356578 OTOF Synonymous SNV R899R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign/Likely benign 11.48 193220 chr16 48173159 48173159 A G rs748792178 ABCC12 Nonsynonymous SNV V249A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 193221 chr2 27803741 27803741 G A C2orf16 Synonymous SNV Q1434Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.689 193222 chr2 27305538 27305538 C T rs867602730 EMILIN1 Nonsynonymous SNV R367C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 193223 chr2 27521459 27521459 C T rs367847502 TRIM54 Nonsynonymous SNV R65W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 193224 chr14 65268534 65268534 G A SPTB Synonymous SNV V195V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 193225 chr4 124323582 124323582 G A rs750140832 SPRY1 Nonsynonymous SNV C279Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 193226 chr16 58018552 58018552 A G rs781394274 TEPP Nonsynonymous SNV T155A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 193227 chr3 44489807 44489807 A C ZNF445 Nonsynonymous SNV S440R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 193228 chr16 624424 624424 C T rs111753944 PIGQ Nonsynonymous SNV A117V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.123 193229 chr16 66950205 66950205 C T rs755236039 CDH16 Nonsynonymous SNV R86Q 0 0 0.007 0 0 0 0 2 0 0 0 0 34 193230 chr16 67859819 67859819 G C rs202097306 TSNAXIP1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 193231 chr4 141489089 141489089 C T rs141520915 UCP1 Nonsynonymous SNV G57S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 193232 chr2 3483094 3483094 C T TRAPPC12 Synonymous SNV H690H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.77 193233 chr2 3599883 3599885 TGT - rs760479170 RNASEH1 Q60del 0.003 0 0 0 4 0 0 0 0 0 0 0 193234 chr16 68936379 68936379 A G rs375664406 TANGO6 Nonsynonymous SNV I547V 0 0 0.007 0 0 0 0 2 0 0 1 0 12.8 193235 chr4 148653542 148653542 G T rs763543464 ARHGAP10 Nonsynonymous SNV E30D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 193236 chr16 70820260 70820260 C T rs756391496 VAC14 Nonsynonymous SNV R38Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 193237 chr2 48030692 48030692 T A rs2020910 MSH6 Synonymous SNV T972T 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 Benign 13.37 193238 chr3 48488360 48488360 C T rs368960700 ATRIP Synonymous SNV F37F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 11.7 193239 chr3 48896574 48896574 G A rs777168814 SLC25A20 Synonymous SNV N223N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.1 193240 chr3 49042515 49042515 T G rs62621815 P4HTM Nonsynonymous SNV L370R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.218 193241 chr2 49381495 49381495 C T rs767492233 FSHR Nonsynonymous SNV R21Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 193242 chr14 77919687 77919687 C T rs762600011 VIPAS39 Nonsynonymous SNV D51N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 193243 chr3 49927489 49927489 G A rs777797719 MST1R Nonsynonymous SNV S1166L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 193244 chr3 50312774 50312774 C T rs61736993 SEMA3B Synonymous SNV I168I 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 20.8 193245 chr20 61297766 61297766 C T rs200247255 SLCO4A1 Synonymous SNV T437T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.7 193246 chr20 61444837 61444837 C T rs544644237 OGFR Nonsynonymous SNV P624S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.474 193247 chr20 61461893 61461893 C G rs543868483 COL9A3 Nonsynonymous SNV P414A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 193248 chr16 80718588 80718588 C T rs748118826 CDYL2 Nonsynonymous SNV G155R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 193249 chr14 89087579 89087579 T C EML5 Nonsynonymous SNV N1694D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 193250 chr1 10384930 10384930 C G rs201568534 KIF1B Nonsynonymous SNV F838L 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 24.7 193251 chr14 89128111 89128111 G T rs201021105 EML5 Nonsynonymous SNV P1188T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 193252 chr14 89878620 89878620 G A rs148222339 FOXN3 Synonymous SNV H67H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.448 193253 chr2 67631020 67631020 C G ETAA1 Synonymous SNV L402L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.162 193254 chr14 91123532 91123532 C G TTC7B Nonsynonymous SNV G443R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 193255 chr1 109377607 109377607 G T rs746242546 AKNAD1 Synonymous SNV P536P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.067 193256 chr3 52469731 52469731 C T rs376199344 SEMA3G Nonsynonymous SNV R746Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 193257 chr2 70906078 70906078 A G ADD2 Nonsynonymous SNV Y397H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 193258 chr1 110171751 110171751 G A rs141768935 AMPD2 Nonsynonymous SNV G510D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 193259 chr4 183694689 183694689 G A rs762748213 TENM3 Nonsynonymous SNV G1653R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 193260 chr6 637768 637768 T C EXOC2 Synonymous SNV E17E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.702 193261 chr1 111724848 111724848 C T CEPT1 Nonsynonymous SNV L252F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 18.09 193262 chr14 95670336 95670336 T C rs148780977 CLMN Synonymous SNV P450P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 193263 chr2 73430121 73430121 T G rs148083845 NOTO Synonymous SNV P109P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.093 193264 chr16 88500994 88500994 C G rs762487170 ZNF469 Synonymous SNV T2372T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 3.664 193265 chr14 102476187 102476187 C T rs140841480 DYNC1H1 Synonymous SNV A1995A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.58 193266 chr14 102551072 102551072 G A rs115513913 HSP90AA1 Synonymous SNV Y309Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.618 193267 chr2 97217389 97217389 C G rs375642531 ARID5A Nonsynonymous SNV P211R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 193268 chr1 119467440 119467440 T C rs61730014 TBX15 Synonymous SNV R174R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 11.8 193269 chr4 26638857 26638857 A T TBC1D19 Stop gain K42X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 38 193270 chr2 96992463 96992463 C T rs752003922 ITPRIPL1 Nonsynonymous SNV R40W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 193271 chr16 89818612 89818612 G C rs750421982 FANCA Nonsynonymous SNV H1000Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.19 193272 chr14 105350599 105350599 C T CEP170B Nonsynonymous SNV R425C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 193273 chr3 108160072 108160072 G A rs762188170 MYH15 Synonymous SNV C917C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.049 193274 chr16 9934954 9934954 T A GRIN2A Nonsynonymous SNV T446S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.28 193275 chr15 22993121 22993121 C T rs149042952 CYFIP1 Nonsynonymous SNV A572V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.8 193276 chr1 149902689 149902689 C T rs367729169 MTMR11 Nonsynonymous SNV G415R 0 0 0 2 0 0 0.005 0 0 0 0 0 17.4 193277 chr17 1611369 1611369 C T rs778757726 TLCD2 Nonsynonymous SNV V164M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.974 193278 chr1 151491718 151491718 T G CGN Stop gain Y241X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.6 193279 chr15 33872338 33872338 A G rs768687562 RYR3 Nonsynonymous SNV K477R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 193280 chr15 33990156 33990156 A T RYR3 Nonsynonymous SNV M2070L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 193281 chr1 152058599 152058599 T C TCHHL1 Nonsynonymous SNV H520R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.003 193282 chr15 34395185 34395185 C A rs769475705 PGBD4 Nonsynonymous SNV D151E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 193283 chr15 34655879 34655879 G T rs564033666 LPCAT4 Nonsynonymous SNV R232S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 193284 chr15 36937461 36937461 C T rs139465273 C15orf41 Nonsynonymous SNV S62L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.025 193285 chr4 114170989 114170989 C T rs753032598 ANK2 Nonsynonymous SNV R321W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 193286 chr17 17719593 17719593 C G rs201544341 SREBF1 Synonymous SNV T690T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.853 193287 chr17 17919496 17919496 G A rs765775066 DRC3 Nonsynonymous SNV R482H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 193288 chr17 18022168 18022168 G A rs144909486 MYO15A Synonymous SNV K18K 0.007 0.008 0.007 2 8 3 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.309 193289 chr17 18186071 18186071 G A rs199647632 TOP3A Synonymous SNV P559P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.819 193290 chr4 123665147 123665147 T C rs145847043 BBS12 Synonymous SNV N700N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.455 193291 chr3 119634935 119634935 C T rs761617255 GSK3B Synonymous SNV L188L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.1 193292 chr15 41829223 41829223 T A rs565194955 RPAP1 Nonsynonymous SNV K34M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.1 193293 chr17 2203223 2203223 T C rs138212055 SMG6 Nonsynonymous SNV D275G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 193294 chr4 146700587 146700587 G A rs565610282 ZNF827 Synonymous SNV D820D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.4 193295 chr1 156314421 156314421 T G rs149637850 TSACC Nonsynonymous SNV S29A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.5 193296 chr4 68939695 68939695 G A rs772467413 TMPRSS11F Synonymous SNV G105G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.303 193297 chr4 151727457 151727457 A G LRBA Synonymous SNV G1828G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.84 193298 chr17 2911326 2911326 C T rs34324277 RAP1GAP2 Synonymous SNV L446L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.26 193299 chr17 29119761 29119761 - AA rs10645005 SUZ12P1 0 0 0.014 0 0 0 0 4 0 0 2 0 193300 chr4 155410501 155410501 A C DCHS2 Nonsynonymous SNV N669K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 193301 chr17 3213731 3213731 G A rs141185140 OR3A4P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.74 193302 chr4 71510543 71510543 G T rs200396980 ENAM Nonsynonymous SNV V916L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.062 193303 chr1 158670351 158670351 A G rs751253979 OR6K2 Nonsynonymous SNV L31P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 193304 chr4 164069536 164069536 C G rs772847731 NAF1 Nonsynonymous SNV E197D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 193305 chr17 34325341 34325341 T A rs143211795 CCL15 Nonsynonymous SNV S75C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.3 193306 chr7 123302045 123302045 C T rs757325191 LMOD2 Synonymous SNV D135D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.543 193307 chr17 38445795 38445795 C T rs372313551 CDC6 Synonymous SNV T41T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 193308 chr17 38953522 38953522 A G rs371660115 KRT28 Synonymous SNV A234A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 193309 chr15 62320618 62320618 G A rs139665824 VPS13C Synonymous SNV G129G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.59 193310 chr3 15686647 15686647 C T rs35145938 BTD Synonymous SNV Y408Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.702 193311 chr15 64452308 64452308 G A rs199971446 PPIB Nonsynonymous SNV T113I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 193312 chr3 16216861 16216861 T G rs36026882 GALNT15 Nonsynonymous SNV V68G 0 0.005 0 0 0 2 0 0 0 0 0 0 25.6 193313 chr4 90830477 90830477 A G rs373754512 MMRN1 Nonsynonymous SNV D225G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 193314 chr4 20525461 20525461 A T rs34224151 SLIT2 Synonymous SNV L407L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.124 193315 chr17 39623234 39623234 C T rs758366433 KRT32 Nonsynonymous SNV R115Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 193316 chr3 167023562 167023562 A C rs771690201 ZBBX Nonsynonymous SNV L532V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 193317 chr2 38525396 38525396 T C ATL2 Nonsynonymous SNV M337V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.533 193318 chr1 17596852 17596852 C T rs139705029 PADI3 Synonymous SNV A259A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 193319 chr1 176659524 176659524 C T rs749499139 PAPPA2 Nonsynonymous SNV R797C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 193320 chr2 43798898 43798898 A T rs548205845 THADA Nonsynonymous SNV L671H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 28.2 193321 chr5 112162815 112162815 G A rs141579422 APC Synonymous SNV Q455Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 9.027 193322 chr2 43902723 43902723 G T rs370925278 C1GALT1C1L Nonsynonymous SNV P247T 0.003 0.008 0 0 3 3 0 0 0 0 0 0 8.242 193323 chr3 183882150 183882150 C T rs150659339 DVL3 Synonymous SNV I109I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.21 193324 chr22 40661502 40661502 G T rs201057205 TNRC6B Nonsynonymous SNV G423V 0.008 0.003 0 0 9 1 0 0 0 0 0 0 24.7 193325 chr15 75498465 75498465 G A rs763041108 C15orf39 Nonsynonymous SNV G26R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 193326 chr22 40814931 40814931 C T rs200748590 MRTFA Nonsynonymous SNV R504Q 0.006 0 0 0 7 0 0 0 0 0 0 0 22.4 193327 chr17 42475595 42475595 G A rs375783568 GPATCH8 Nonsynonymous SNV P1206S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 193328 chr7 150884642 150884642 G A rs1040535491 ASB10 Synonymous SNV T56T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.524 193329 chr22 42095603 42095603 G A rs73424975 MEI1 Nonsynonymous SNV A21T 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 Benign 12.67 193330 chr22 42128343 42128343 G C rs61735670 MEI1 Synonymous SNV L397L 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 Benign 7.73 193331 chr22 42166724 42166724 G A rs61737623 MEI1 Nonsynonymous SNV G768D 0.009 0.003 0.007 0 10 1 0 2 0 0 0 0 Benign 9.33 193332 chr22 42394835 42394835 C G rs17002790 WBP2NL Nonsynonymous SNV Q5E 0.009 0.003 0.007 1 11 1 0.003 2 0 0 0 0 22.7 193333 chr4 40337977 40337977 G A rs56171884 CHRNA9 Synonymous SNV Q66Q 0.007 0 0.003 0 8 0 0 1 1 0 0 0 7.833 193334 chr7 151879075 151879075 G A rs372410972 KMT2C Nonsynonymous SNV T1957M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.006 193335 chr2 55750947 55750947 C T rs756970367 CFAP36 Nonsynonymous SNV H91Y 0.002 0 0 0 2 0 0 0 0 0 0 0 17.79 193336 chr4 40892489 40892489 A T rs200558257 APBB2 Nonsynonymous SNV I452N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 193337 chr15 80415082 80415082 T G rs147509612 ZFAND6 Nonsynonymous SNV S102A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 17.12 193338 chr4 53611515 53611515 A G rs190577612 ERVMER34-1 Nonsynonymous SNV L58P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.8 193339 chr15 81294645 81294645 C T rs764640242 TLNRD1 Synonymous SNV G11G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 193340 chr1 1850636 1850636 - AGCGGCAGG TMEM52 L26_P27insLPL 0 0 0 3 0 0 0.008 0 0 0 0 0 193341 chr7 19748606 19748620 CTGGCCGCGGCGCCT - TWISTNB E7_P11del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 193342 chr4 54344768 54344768 C T rs376500430 LNX1 Nonsynonymous SNV G447R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 193343 chr4 54347897 54347897 T C rs774409896 LNX1 Nonsynonymous SNV N396S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 193344 chr15 83933426 83933426 T C BNC1 Nonsynonymous SNV I186V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 193345 chr15 85147451 85147451 T C rs768414056 ZSCAN2 Nonsynonymous SNV M98T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.9 193346 chr3 196746533 196746533 G A rs200788993 MELTF Synonymous SNV D284D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.748 193347 chr3 25705747 25705747 G T rs749153026 TOP2B Synonymous SNV G14G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.84 193348 chr15 89008902 89008902 C T MRPL46 Nonsynonymous SNV E111K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 193349 chr22 50869714 50869714 C T rs140861368 PPP6R2 Nonsynonymous SNV S413F 0.003 0 0 0 4 0 0 0 0 0 0 0 20.7 193350 chr17 56584505 56584505 C T rs61739434 MTMR4 Nonsynonymous SNV E281K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 193351 chr15 89398530 89398530 C T rs758104180 ACAN Nonsynonymous SNV T905I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 193352 chr3 38167336 38167336 T C rs528682842 ACAA1 Nonsynonymous SNV N252S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 193353 chr5 140745339 140745339 G T rs373332121 PCDHGA5 Nonsynonymous SNV S481I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.231 193354 chr4 74014588 74014588 T C ANKRD17 Synonymous SNV P390P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.84 193355 chr2 96789882 96789882 C T rs199510888 ASTL Nonsynonymous SNV V335I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 193356 chr3 37584054 37584054 G A rs145528100 ITGA9 Nonsynonymous SNV R556H 0.004 0 0 0 5 0 0 0 1 0 0 0 8.555 193357 chr7 37960642 37960642 G A rs764011096 EPDR1 Nonsynonymous SNV G34E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 193358 chr5 140857522 140857522 C T rs748233998 PCDHGC3 Synonymous SNV S613S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.14 193359 chr3 38354926 38354926 C T SLC22A14 Synonymous SNV F371F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.09 193360 chr3 40453433 40453433 G A rs41286046 ENTPD3 Synonymous SNV T139T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 193361 chr17 66878033 66878033 G A rs146930840 ABCA8 Nonsynonymous SNV T1266M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 193362 chr3 44541385 44541385 C G ZNF852 Nonsynonymous SNV G295A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.1 193363 chr4 80328600 80328600 G A rs201151701 GK2 Nonsynonymous SNV P252L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 193364 chr7 4830946 4830946 - GGCCCT rs750719570 AP5Z1 L631_P632insAL 0.001 0.003 0 0 1 1 0 0 0 0 0 0 193365 chr15 101775406 101775406 G A rs758494719 CHSY1 Nonsynonymous SNV R233W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 193366 chr4 84370046 84370046 T C rs748173129 HELQ Nonsynonymous SNV T361A 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 193367 chr4 84375099 84375099 C G rs752340592 HELQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 193368 chr16 320591 320591 C T rs149644131 RGS11 Synonymous SNV E195E 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 9.375 193369 chr3 4508748 4508748 T C SUMF1 Nonsynonymous SNV H61R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.497 193370 chr5 153026561 153026561 C G GRIA1 Synonymous SNV T98T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 193371 chr4 89384750 89384751 CT - HERC5 H254Qfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 193372 chr3 46480798 46480798 G A LTF Nonsynonymous SNV L589F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 193373 chr17 73493280 73493280 G A TMEM94 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 193374 chr3 46747329 46747329 C T TMIE Nonsynonymous SNV T48I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 193375 chr16 774430 774430 C T rs201634385 CCDC78 Nonsynonymous SNV R282Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.31 193376 chr17 74011557 74011557 C G EVPL Nonsynonymous SNV Q643H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 193377 chr17 74094083 74094083 C T rs548920286 EXOC7 Nonsynonymous SNV R104H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 193378 chr16 1259079 1259099 CTGGAGCAGCCGGCGCTCCAG - rs754765356 CACNA1H R1141_S1147del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 193379 chr3 52005622 52005622 C T rs575308151 ABHD14B Nonsynonymous SNV R22Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 193380 chr17 74289324 74289324 C T rs772880270 QRICH2 Nonsynonymous SNV C329Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.573 193381 chr3 52159127 52159127 A G POC1A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 193382 chr3 52365180 52365180 G C rs200450328 DNAH1 Nonsynonymous SNV Q296H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.845 193383 chr17 74557431 74557431 C T rs185259870 SNHG16 0 0 0.01 0 0 0 0 3 0 0 0 0 2.815 193384 chr3 52549036 52549036 G A rs768140631 STAB1 Nonsynonymous SNV R1280H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 193385 chr3 49759372 49759372 C T GMPPB Nonsynonymous SNV G326E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.397 193386 chr7 72891406 72891406 T C rs144028644 BAZ1B Synonymous SNV K795K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.043 193387 chr5 118506781 118506781 G A DMXL1 Nonsynonymous SNV D2099N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.849 193388 chr5 118525479 118525479 C G rs139727247 DMXL1 Synonymous SNV A2404A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.067 193389 chr17 7643196 7643196 G A rs143209705 DNAH2 Nonsynonymous SNV R439Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 193390 chr16 1997063 1997063 C T rs568874974 RPL3L Nonsynonymous SNV R242Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 193391 chr5 127597535 127597535 C T rs146781484 FBN2 Nonsynonymous SNV E2753K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.79 193392 chr7 84628803 84628803 T G SEMA3D Synonymous SNV R763R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.051 193393 chr3 66431165 66431165 C G rs202090691 LRIG1 Nonsynonymous SNV G964A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 193394 chr5 179222858 179222858 G A rs137887093 LTC4S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 193395 chr3 66436437 66436437 G A rs200725601 LRIG1 Nonsynonymous SNV T586I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 193396 chr5 132432882 132432882 G A rs36009159 HSPA4 Synonymous SNV E611E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 193397 chr17 78219965 78219965 C T rs141146194 SLC26A11 Synonymous SNV N370N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 193398 chr3 9027586 9027586 G A SRGAP3 Nonsynonymous SNV H949Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 193399 chr5 137281623 137281624 TT - FAM13B Q719Hfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 193400 chr16 3633211 3633211 C A rs199592185 SLX4 Nonsynonymous SNV R1680S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 193401 chr3 9704059 9704059 G - rs745454419 MTMR14 K139Nfs*76 0 0.003 0 0 0 1 0 0 0 0 0 0 193402 chr3 73111401 73111401 C G rs202063792 EBLN2 Nonsynonymous SNV P57A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 193403 chr7 93555461 93555461 C T rs748825144 GNG11 Nonsynonymous SNV P52L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 33 193404 chr16 4415539 4415539 C T CORO7, CORO7-PAM16 Nonsynonymous SNV V180M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.146 193405 chr17 79517971 79517971 C A rs775832814 FAAP100 Synonymous SNV G183G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 193406 chr16 4516320 4516320 C T rs771361108 NMRAL1 Synonymous SNV T121T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 193407 chr5 13920660 13920660 G C rs761877376 DNAH5 Nonsynonymous SNV L243V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11.35 193408 chr5 139885421 139885421 G A rs149314498 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV P1125P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.44 193409 chr16 5061192 5061192 G A rs781520324 SEC14L5 Nonsynonymous SNV D633N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 193410 chr5 140431592 140431592 C T rs782391922 PCDHB1 Synonymous SNV H179H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.284 193411 chr5 37875637 37875637 G A rs1049927590 GDNF-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 193412 chr4 100126109 100126109 G C rs374752814 ADH6 Nonsynonymous SNV A359G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.325 193413 chr4 100573163 100573163 C A rs570808642 C4orf54 Nonsynonymous SNV M881I 0.002 0 0 0 2 0 0 0 0 0 0 0 3.532 193414 chr17 8161481 8161481 G A rs141777945 PFAS Nonsynonymous SNV E434K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 25 193415 chr4 106180925 106180925 A - TET2 E1318Gfs*45 0 0.003 0 0 0 1 0 0 0 0 0 0 193416 chr5 145493696 145493696 G A rs201583773 LARS1 Synonymous SNV G1122G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.957 193417 chr18 12329644 12329644 G T rs117182113 AFG3L2 Nonsynonymous SNV L772I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 193418 chr16 21071622 21071622 C T rs146434817 DNAH3 Nonsynonymous SNV R1213Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 193419 chr18 13117640 13117640 G A rs145843566 CEP192 Synonymous SNV L2491L 0 0 0.007 0 0 0 0 2 0 0 0 0 3.908 193420 chr1 24434982 24434982 G A rs773609917 MYOM3 Nonsynonymous SNV R49W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 193421 chr16 21726422 21726422 C A rs151328702 OTOA Synonymous SNV S155S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.23 193422 chr18 19408947 19408947 C T MIR133A1HG 0 0 0.003 0 0 0 0 1 0 0 0 0 8.379 193423 chr5 66459256 66459256 A G rs760708110 MAST4 Nonsynonymous SNV M1156V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 193424 chr18 21710336 21710336 G A rs149403354 TTC39C Synonymous SNV P219P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.82 193425 chr5 68473132 68473132 G T rs892868254 CCNB1 Nonsynonymous SNV A331S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 193426 chr5 150892081 150892081 G A rs569664435 FAT2 Synonymous SNV H3850H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.121 193427 chr4 122103875 122103875 T C rs139501144 TNIP3 Nonsynonymous SNV T49A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.959 193428 chr5 71756682 71756682 G A rs145295543 ZNF366 Synonymous SNV P214P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.277 193429 chr18 2913074 2913074 C T rs779844278 EMILIN2 Nonsynonymous SNV T945M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 193430 chr1 247737542 247737542 A G rs376018639 GCSAML Nonsynonymous SNV Y57C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.6 193431 chr18 30260541 30260541 A G rs774010705 KLHL14 Synonymous SNV C420C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.304 193432 chr18 30825215 30825215 C T rs117054944 CCDC178 Synonymous SNV K529K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 193433 chr18 3089559 3089559 G A rs762476268 MYOM1 Nonsynonymous SNV R1253W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.3 193434 chr3 169572748 169572748 C T rs370300471 LRRC31 Nonsynonymous SNV G226S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.68 193435 chr5 156346545 156346545 A T rs750568816 TIMD4 Nonsynonymous SNV Y326N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 193436 chr18 32917376 32917376 A G ZNF24 Synonymous SNV C309C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.25 193437 chr5 74981187 74981187 G C rs138072982 POC5 Nonsynonymous SNV P393A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.27 193438 chr5 156590634 156590634 C T rs990649466 FAM71B Synonymous SNV E214E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.364 193439 chr5 157102128 157102128 A - rs565344193 C5orf52 T83Lfs*10 0.002 0 0 1 2 0 0.003 0 0 0 0 0 193440 chr5 159344229 159344229 A T ADRA1B Nonsynonymous SNV E106V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 193441 chr16 31075343 31075343 C A ZNF668 Synonymous SNV P146P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.72 193442 chr16 31092233 31092233 C A rs770430769 ZNF646 Nonsynonymous SNV H1530N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.529 193443 chr18 43573589 43573589 T C rs73953951 PSTPIP2 Synonymous SNV Q241Q 0 0 0.01 0 0 0 0 3 0 0 0 0 1.933 193444 chr18 43914264 43914264 C G rs79121450 RNF165 Synonymous SNV L9L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 13.86 193445 chr18 44774464 44774464 - CGCCCA SKOR2 G363_A364insVG 0 0 0.003 0 0 0 0 1 0 0 0 0 193446 chr18 45101075 45101075 C T rs74870905 MIR4527HG 0 0 0.003 0 0 0 0 1 0 0 0 0 7.206 193447 chr4 151849716 151849716 G A rs763929621 LRBA Synonymous SNV R167R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.765 193448 chr5 169533135 169533135 C T FOXI1 Synonymous SNV T58T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.558 193449 chr4 164050186 164050186 C T rs200516616 NAF1 Nonsynonymous SNV G450S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.501 193450 chr16 55705878 55705878 C T rs745976198 SLC6A2 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 193451 chr1 26581711 26581711 C T rs373475884 CEP85 Synonymous SNV H35H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.711 193452 chr5 176859748 176859748 G A rs558569042 GRK6 Synonymous SNV T127T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.363 193453 chr5 176862065 176862065 G A rs143935970 GRK6 Nonsynonymous SNV V124M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 193454 chr5 9108321 9108321 T C rs149012151 SEMA5A Synonymous SNV Q668Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.487 193455 chr5 176916526 176916526 T A rs773772955 PDLIM7 Nonsynonymous SNV H246L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 193456 chr5 176916545 176916545 T A rs775368978 PDLIM7 Nonsynonymous SNV S240C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 193457 chr5 176930131 176930131 G A rs202146130 DOK3 Nonsynonymous SNV T201M 0.003 0 0 0 3 0 0 0 0 0 0 0 2.929 193458 chr5 94803683 94803683 G A rs200067423 TTC37 Nonsynonymous SNV R1503C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 193459 chr18 61262397 61262397 C T rs368658099 SERPINB13 Synonymous SNV N71N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.87 193460 chr5 95729044 95729044 C T rs6236 PCSK1 Synonymous SNV L641L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.969 193461 chr3 190039860 190039860 T A rs201319396 CLDN1 Nonsynonymous SNV M46L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 193462 chr1 29447822 29447822 G C TMEM200B Synonymous SNV P173P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.042 193463 chr18 67863773 67863773 A C rs141156594 RTTN Nonsynonymous SNV F269V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 193464 chr4 18023310 18023312 GCG - rs767373736 LCORL A22del 0.003 0 0 0 4 0 0 0 0 0 0 0 193465 chr5 180047215 180047215 C T rs201205543 FLT4 Nonsynonymous SNV D834N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 193466 chr4 184233579 184233579 G A rs143771799 WWC2 Nonsynonymous SNV R1157Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 193467 chr1 32205615 32205615 G C rs146415162 ADGRB2 Nonsynonymous SNV H693Q 0 0 0 3 0 0 0.008 0 0 0 0 0 23.5 193468 chr16 66599860 66599860 T C rs368934751 CKLF Synonymous SNV N50N 0.003 0 0 0 3 0 0 0 0 0 0 0 8.873 193469 chr16 67220231 67220231 G A rs141772271 EXOC3L1 Stop gain R469X 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 40 193470 chr16 67576291 67576291 A G rs113630101 RIPOR1 Synonymous SNV T538T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.5 193471 chr4 186544972 186544972 G A rs148423116 SORBS2 Synonymous SNV P437P 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.383 193472 chr6 109837253 109837253 G C AK9 Nonsynonymous SNV P1291R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 193473 chr1 36039531 36039531 C G rs767724636 TFAP2E Nonsynonymous SNV R11G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 22.5 193474 chr8 17170812 17170812 A G MTMR7 Nonsynonymous SNV F322L 0 0.005 0 0 0 2 0 0 0 0 0 0 33 193475 chr6 116288774 116288774 C T rs149754042 FRK Nonsynonymous SNV E247K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 193476 chr3 32754837 32754837 C T rs745726837 CNOT10 Synonymous SNV N183N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.04 193477 chr6 116833053 116833053 T C rs140516625 CALHM5 Nonsynonymous SNV L65P 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 27.2 193478 chr19 10218409 10218409 G C rs184113513 SNORD105 0 0 0.003 0 0 0 0 1 0 0 0 0 5.511 193479 chr19 10394917 10394917 C T rs5494 ICAM1 Synonymous SNV D282D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.43 193480 chr5 38886290 38886290 G A rs200434710 OSMR Nonsynonymous SNV R330Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 193481 chr8 195338 195338 G A rs111707578 ZNF596 Nonsynonymous SNV C164Y 0 0.003 0 4 0 1 0.01 0 0 0 0 0 5.635 193482 chr5 39202782 39202782 G T FYB1 Nonsynonymous SNV T104K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.151 193483 chr19 10541683 10541683 C G rs28610998 PDE4A Nonsynonymous SNV P55A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 193484 chr19 10624863 10624863 C T rs75861469 S1PR5 Synonymous SNV V275V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.88 193485 chr6 128222051 128222051 G A rs767614057 THEMIS Synonymous SNV V9V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.26 193486 chr6 129674336 129674336 A C LAMA2 Synonymous SNV P1517P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.452 193487 chr6 129687408 129687408 C T rs568598684 LAMA2 Nonsynonymous SNV R1588C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 193488 chr4 40119614 40119614 G A rs200041215 N4BP2 Nonsynonymous SNV C597Y 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 193489 chr19 11660200 11660200 C T rs147229692 CNN1 Synonymous SNV L188L 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.92 193490 chr19 12127223 12127223 A G rs367931065 ZNF433 Synonymous SNV C153C 0 0 0.01 2 0 0 0.005 3 0 0 0 0 0.206 193491 chr19 12187334 12187334 G T rs200818646 ZNF844 Stop gain E467X 0 0 0.007 2 0 0 0.005 2 0 0 0 0 24.5 193492 chr19 1234606 1234606 C T rs140226458 CBARP Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 193493 chr19 1236047 1236052 GTGGTG - rs758666620 CBARP T17_T18del 0 0.003 0.007 0 0 1 0 2 0 0 0 0 193494 chr2 234737347 234737347 C T rs563807941 MROH2A Synonymous SNV A1397A 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 12.89 193495 chr6 135254058 135254058 G A rs559450703 ALDH8A1 Synonymous SNV T185T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.098 193496 chr19 1387832 1387832 G T NDUFS7 Synonymous SNV R13R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.324 193497 chr19 14028928 14028928 G A rs773656208 CC2D1A Nonsynonymous SNV R265H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.29 193498 chr3 43760006 43760006 C T ABHD5 Synonymous SNV I344I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.19 193499 chr19 1460232 1460232 G T APC2 Nonsynonymous SNV K451N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 193500 chr5 56207140 56207140 T C rs745694356 SETD9 Synonymous SNV S81S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.345 193501 chr4 47574228 47574228 C G ATP10D Stop gain S1074X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 193502 chr16 84216739 84216739 T G rs149348979 TAF1C Nonsynonymous SNV K142T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 193503 chr5 66462094 66462094 G A rs373496691 MAST4 Nonsynonymous SNV A2102T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.16 193504 chr2 239039616 239039616 A C ESPNL Nonsynonymous SNV Y386S 0.002 0 0 0 2 0 0 0 0 0 0 0 22 193505 chr6 144263739 144263739 T G PLAGL1 Nonsynonymous SNV N72H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.519 193506 chr5 74712803 74712803 C T rs200264269 CERT1 Synonymous SNV A245A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 15.14 193507 chr8 42706078 42706078 C G RNF170 Synonymous SNV L153L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.946 193508 chr19 17392739 17392739 G T ANKLE1 Stop gain E4X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 193509 chr5 77471634 77471634 T C rs142025324 AP3B1 Nonsynonymous SNV I308V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.62 193510 chr5 78340223 78340223 G A rs145258663 DMGDH Nonsynonymous SNV L300F 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Benign 21.6 193511 chr4 6865569 6865569 T C rs16839403 KIAA0232 Synonymous SNV L1154L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 4.238 193512 chr19 17628127 17628127 G A rs141353536 PGLS Nonsynonymous SNV D143N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 33 193513 chr5 79029365 79029365 A G rs914837522 CMYA5 Nonsynonymous SNV K1593E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 193514 chr1 6304455 6304455 T C HES3 Synonymous SNV N10N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.125 193515 chr4 73941995 73941995 G C rs144043898 ANKRD17 Nonsynonymous SNV P2338A 0 0.003 0 4 0 1 0.01 0 0 0 0 0 13.04 193516 chr5 79741137 79741137 T C rs149786762 ZFYVE16 Synonymous SNV N879N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.467 193517 chr4 71099767 71099767 T C rs909298108 FDCSP Nonsynonymous SNV F41L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.01 193518 chr4 74853034 74853034 C A PPBP Nonsynonymous SNV K114N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 193519 chr4 71509384 71509384 C T rs36064169 ENAM Synonymous SNV Y529Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.052 193520 chr5 82834948 82834948 C T rs138910265 VCAN Synonymous SNV D1055D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.03 193521 chr4 74352799 74352799 A T rs61747695 AFM Nonsynonymous SNV N200Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.9 193522 chr4 74352800 74352800 A T rs61747694 AFM Nonsynonymous SNV N200I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.38 193523 chr19 1912568 1912568 C T rs373784387 ADAT3 Synonymous SNV S158S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 13.21 193524 chr19 1952808 1952808 G A rs74415283 CSNK1G2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.706 193525 chr8 87552546 87552546 T G CPNE3 Nonsynonymous SNV M206R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 193526 chr4 84185451 84185451 C T COQ2 Synonymous SNV L339L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.805 193527 chr19 22791071 22791071 A T rs2306965 LOC100996349 0 0 0.014 0 0 0 0 4 0 0 0 0 1.9 193528 chr4 88106598 88106598 C T rs773007655 KLHL8 Synonymous SNV Q190Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.39 193529 chr19 32844995 32844995 T C rs145107585 ZNF507 Nonsynonymous SNV M420T 0 0 0.007 0 0 0 0 2 0 0 0 0 1.823 193530 chr6 17856295 17856295 C A rs368344676 KIF13A Synonymous SNV G93G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 193531 chr6 112382281 112382281 C T CCN6 Stop gain Q46X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 193532 chr19 33602732 33602732 C T rs779820798 GPATCH1 Nonsynonymous SNV S563L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 193533 chr19 35590172 35590172 T G rs143544330 HPN-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.448 193534 chr19 35758137 35758137 G A rs547883600 LSR Nonsynonymous SNV D364N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 193535 chr17 4449000 4449000 C G MYBBP1A Nonsynonymous SNV A660P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 193536 chr6 128294906 128294906 G C PTPRK Nonsynonymous SNV P1345A 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 193537 chr19 37005077 37005077 G A ZNF260 Nonsynonymous SNV T355I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 193538 chr5 108380468 108380468 T C rs183440274 FER Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.99 193539 chr6 13638093 13638093 T C RANBP9 Synonymous SNV P540P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.156 193540 chr6 133004314 133004314 C T VNN1 Nonsynonymous SNV V503I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.568 193541 chr6 135787485 135787485 G A AHI1 Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.831 193542 chr6 36454836 36454836 G A rs111494364 KCTD20 Nonsynonymous SNV G216R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 193543 chr6 36651876 36651876 G A rs181964284 CDKN1A Nonsynonymous SNV A34T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.862 193544 chr19 38800142 38800142 G A rs759682525 YIF1B Nonsynonymous SNV T52M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.033 193545 chr5 131931499 131931499 T A rs757043253 RAD50 Nonsynonymous SNV M735K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.1 193546 chr6 39835296 39835296 C T rs772308516 DAAM2 Nonsynonymous SNV R147C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 193547 chr6 144808730 144808730 T C UTRN Nonsynonymous SNV I1290T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 193548 chr6 144844172 144844172 C G rs774055080 UTRN Nonsynonymous SNV D1918E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 193549 chr19 39401292 39401292 T C rs529725164 CCER2 Nonsynonymous SNV R208G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 193550 chr5 134364648 134364648 C T rs372494047 PITX1 Nonsynonymous SNV A256T 0 0.005 0 0 0 2 0 0 0 0 0 0 25.4 193551 chr17 7324312 7324312 G A rs200986182 SPEM1 Synonymous SNV P106P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.882 193552 chr6 42613258 42613258 G A rs765593609 UBR2 Nonsynonymous SNV R780Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 193553 chr17 7684409 7684409 T G DNAH2 Nonsynonymous SNV V2018G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.023 193554 chr17 7701994 7701994 A G DNAH2 Synonymous SNV S2839S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.594 193555 chr19 40903662 40903662 G A rs144157275 PRX Synonymous SNV A199A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.28 193556 chr19 40903720 40903720 G A rs540526276 PRX Nonsynonymous SNV P180L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 193557 chr5 1318500 1318500 G A rs199877453 CLPTM1L Nonsynonymous SNV A534V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.966 193558 chr19 40964325 40964325 G A rs144849024 BLVRB Synonymous SNV D69D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.895 193559 chr5 138732782 138732783 TC - rs750385001 SPATA24 Stop gain N146* 0 0.005 0 0 0 2 0 0 0 0 0 0 193560 chr19 41220218 41220218 G A rs113358395 COQ8B Nonsynonymous SNV R63W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 33 193561 chr5 133686006 133686006 G A rs199566778 CDKL3 Nonsynonymous SNV T158M 0.001 0 0 0 1 0 0 0 0 0 0 0 30 193562 chr9 126137554 126137554 C T rs767661644 CRB2 Nonsynonymous SNV R1189W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 193563 chr6 44374084 44374084 A G rs1050556674 CDC5L Synonymous SNV K261K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.662 193564 chr17 9546506 9546506 T A CFAP52 Stop gain Y550X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.8 193565 chr19 42507537 42507537 C T rs376852933 GRIK5 Nonsynonymous SNV V821M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 193566 chr6 155596888 155596888 T C rs777860875 CLDN20 Nonsynonymous SNV I12T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.99 193567 chr6 47501448 47501448 T C rs138428273 CD2AP Synonymous SNV A92A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.73 193568 chr6 155054985 155054985 G C rs372825045 SCAF8 Nonsynonymous SNV S62T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.78 193569 chr20 32000469 32000469 C T rs137986136 SNTA1 Nonsynonymous SNV R274Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 13.47 193570 chr4 138452204 138452204 C T PCDH18 Nonsynonymous SNV V347I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.09 193571 chr20 33519783 33519783 G A rs148640446 GSS Nonsynonymous SNV R330C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 34 193572 chr5 138860866 138860866 C T rs181566154 TMEM173 Nonsynonymous SNV A97T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.184 193573 chr17 10397893 10397893 G A rs774201277 MYH1 Nonsynonymous SNV T1855I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 193574 chr9 131484062 131484062 C T rs146354591 ZDHHC12 Nonsynonymous SNV R172H 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 23.8 193575 chr9 131495752 131495752 G C rs138395475 ZER1 Nonsynonymous SNV D732E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 13.8 193576 chr9 131515497 131515497 T C rs767352532 ZER1 Nonsynonymous SNV N231S 0 0.008 0 0 0 3 0 0 0 0 0 0 23 193577 chr4 154541935 154541935 C T rs200992906 TMEM131L Nonsynonymous SNV L1199F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 29.8 193578 chr6 160952816 160952816 T C rs41267807 LPA Nonsynonymous SNV Y2023C 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 23.7 193579 chr17 17068262 17068262 G A MPRIP Synonymous SNV E1151E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.487 193580 chr17 18025473 18025473 G A rs200738532 MYO15A Nonsynonymous SNV R1120H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 193581 chr6 71236057 71236057 G A rs148084482 FAM135A Synonymous SNV Q861Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 5.318 193582 chr17 19451299 19451299 C T rs376684832 SLC47A1 Nonsynonymous SNV T103M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 193583 chr6 7373354 7373354 A C rs773647845 CAGE1 Synonymous SNV A430A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.059 193584 chr9 139115946 139115946 T G QSOX2 Nonsynonymous SNV E164A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 193585 chr6 84865048 84865048 C T rs371935197 CEP162 Nonsynonymous SNV R912H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 193586 chr9 139564106 139564106 C G rs114826929 EGFL7 Synonymous SNV A82A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.894 193587 chr6 89907879 89907879 C T rs369049074 GABRR1 Synonymous SNV T127T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.11 193588 chr17 27010340 27010340 G C rs148266226 SUPT6H Nonsynonymous SNV V645L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 193589 chr4 186353232 186353232 T C rs149697117 C4orf47 Nonsynonymous SNV F66S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26 193590 chr17 27613914 27613914 G C NUFIP2 Synonymous SNV L366L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.472 193591 chr17 27889956 27889956 C T rs377743368 ABHD15 Nonsynonymous SNV D344N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 193592 chr17 27938995 27938995 C A rs140351736 ANKRD13B Synonymous SNV R357R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.45 193593 chr17 27942816 27942816 C G rs748435441 CORO6 Nonsynonymous SNV Q216H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.5 193594 chr5 154317580 154317580 A G rs758130648 GEMIN5 Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.501 193595 chr6 27833194 27833194 G T rs747004657 H2AC16 Nonsynonymous SNV R21L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 193596 chr17 28545186 28545186 G T rs747173078 SLC6A4 Nonsynonymous SNV D216E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 193597 chr17 28749794 28749794 G A rs760372082 CPD Synonymous SNV T223T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 193598 chr20 57036570 57036570 C T rs41307189 APCDD1L Nonsynonymous SNV R261H 0 0 0 2 0 0 0.005 0 0 0 0 0 10.4 193599 chr7 100027914 100027914 G C rs767959530 MEPCE Nonsynonymous SNV Q91H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.647 193600 chr7 100176386 100176386 G A rs551961361 LRCH4 Nonsynonymous SNV R208C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 193601 chr4 2306275 2306275 C A rs149217247 ZFYVE28 Nonsynonymous SNV G568C 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 193602 chr5 170863132 170863132 C A rs377227813 FGF18 Synonymous SNV I35I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 193603 chr5 175811305 175811305 T C NOP16 Nonsynonymous SNV Y150C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 193604 chr17 33885033 33885033 C T rs145760799 SLFN14 Nonsynonymous SNV V17I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.052 193605 chr6 36259274 36259274 C T rs140585347 PNPLA1 Nonsynonymous SNV T33M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 193606 chr6 36689596 36689596 G A rs189776467 RAB44 Nonsynonymous SNV R562Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 193607 chr9 22451788 22451788 C T DMRTA1 Nonsynonymous SNV P465S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24.2 193608 chr4 42127639 42127639 G A BEND4 Synonymous SNV N369N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 193609 chr4 42145723 42145723 G A BEND4 Nonsynonymous SNV S259L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 193610 chr6 44275079 44275079 C T rs757708179 AARS2 Nonsynonymous SNV R316H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.76 193611 chr7 100552905 100552905 G - rs758028791 MUC3A E1128Nfs*53 0 0.003 0 0 0 1 0 0 0 0 0 0 193612 chr5 33649739 33649739 G A rs369781490 ADAMTS12 Synonymous SNV I418I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.89 193613 chr9 74312951 74312951 G A rs201011959 CEMIP2 Nonsynonymous SNV R1120W 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 23.8 193614 chr6 57013057 57013057 G A rs142125848 ZNF451 Nonsynonymous SNV R725H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 193615 chr21 33057924 33057924 T C rs574147232 SCAF4 Synonymous SNV P707P 0 0 0 2 0 0 0.005 0 0 0 0 0 2.586 193616 chr21 33296987 33296987 C T rs35133981 HUNK Nonsynonymous SNV R157W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 193617 chr6 51524041 51524041 G A rs147700643 PKHD1 Nonsynonymous SNV T3628I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.594 193618 chr6 70980041 70980041 G A rs774717953 COL9A1 Synonymous SNV G148G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.873 193619 chr7 106509930 106509930 G A PIK3CG Nonsynonymous SNV A642T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.12 193620 chr21 34725090 34725090 T C rs17875885 IFNAR1 Synonymous SNV D390D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.076 193621 chr9 80866919 80866919 T C rs764314735 CEP78 Nonsynonymous SNV F390L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 193622 chr5 41039611 41039611 A G rs372978038 MROH2B Nonsynonymous SNV I667T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.66 193623 chr9 86279977 86279977 T C rs377286932 UBQLN1 Synonymous SNV T444T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.314 193624 chr7 1166910 1166910 C T rs199870517 C7orf50 Nonsynonymous SNV E38K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 193625 chr9 91793217 91793217 C G rs988473912 SHC3 Synonymous SNV L53L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.179 193626 chr9 91961847 91961847 C T rs527418221 SECISBP2 Nonsynonymous SNV R427C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 193627 chr6 62407138 62407138 T C rs61753608 KHDRBS2 Nonsynonymous SNV Y305C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 193628 chr6 6251088 6251088 C T F13A1 Nonsynonymous SNV G216R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 193629 chr9 95608601 95608601 T G rs745717554 ZNF484 Nonsynonymous SNV Q787P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.03 193630 chr5 6620271 6620271 C T rs140003855 NSUN2 Nonsynonymous SNV G220S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.4 193631 chr5 5463809 5463809 A G rs750912400 ICE1 Synonymous SNV Q1454Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.835 193632 chr21 42609471 42609471 G A rs369116567 BACE2 Nonsynonymous SNV V145I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 193633 chr21 42840394 42840394 C T rs148125094 TMPRSS2 Nonsynonymous SNV V452I 0.004 0 0 5 5 0 0.013 0 0 0 0 0 5.539 193634 chrX 100400154 100400154 T C rs140612319 CENPI Nonsynonymous SNV F556S 0.003 0.005 0 0 3 2 0 0 0 1 0 0 24 193635 chr5 60200644 60200644 G A ERCC8 Synonymous SNV V152V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 193636 chr21 43362274 43362274 G A C2CD2 Synonymous SNV L120L 0.003 0 0 2 4 0 0.005 0 0 0 0 0 2.435 193637 chr17 42828532 42828532 C G rs781755870 DBF4B Nonsynonymous SNV L587V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.007 193638 chrX 104464195 104464195 G T rs377179572 TEX13A Nonsynonymous SNV H227Q 0.003 0.005 0.003 0 3 2 0 1 0 1 0 0 0.015 193639 chr5 6491354 6491354 C A rs978061482 UBE2QL1 Synonymous SNV G126G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 193640 chr6 7580806 7580806 G A rs140029036 DSP Synonymous SNV E1461E 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Benign/Likely benign 0.461 193641 chr5 74324899 74324899 G C rs147455263 GCNT4 Nonsynonymous SNV Q322E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 193642 chr7 137567348 137567348 C T rs137882853 CREB3L2 Nonsynonymous SNV E370K 0 0.005 0 0 0 2 0 0 0 0 0 0 31 193643 chr7 139257835 139257835 G C rs757132320 HIPK2 Synonymous SNV P1118P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.913 193644 chr19 58099951 58099951 C T rs556730573 ZIK1 Synonymous SNV D26D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.36 193645 chr19 581548 581548 C T rs199862501 BSG Synonymous SNV I162I 0 0 0.007 0 0 0 0 2 0 0 0 0 16.87 193646 chr19 58213587 58213587 G T ZNF154 Nonsynonymous SNV P244T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 193647 chr5 73144819 73144819 G A ARHGEF28 Nonsynonymous SNV V239I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 193648 chr17 47246247 47246247 C T rs112740954 B4GALNT2 Stop gain R434X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 41 193649 chr17 48072147 48072147 A G DLX3 Synonymous SNV N72N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 193650 chr6 90576823 90576823 A G rs370073401 CASP8AP2 Nonsynonymous SNV I1272V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.04 193651 chr7 142881276 142881286 GGCTCACATGG - rs528998720 TAS2R39 A256Gfs*28 0 0.003 0 0 0 1 0 0 0 0 0 0 193652 chr19 5914470 5914470 G A rs143117009 CAPS Nonsynonymous SNV R18H 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign 32 193653 chr7 100403135 100403135 C T rs146445434 EPHB4 Nonsynonymous SNV R889Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 193654 chr19 6177252 6177252 G A ACSBG2 Nonsynonymous SNV A251T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.908 193655 chr4 88732881 88732881 A G IBSP Nonsynonymous SNV E258G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.378 193656 chr7 148768543 148768543 T C rs201124666 ZNF786 Nonsynonymous SNV T441A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 193657 chr4 90857518 90857518 T A rs200343754 MMRN1 Nonsynonymous SNV L896Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 193658 chr7 150417190 150417190 T C GIMAP1, GIMAP1-GIMAP5 Nonsynonymous SNV V33A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.417 193659 chr19 8161765 8161765 C A FBN3 Stop gain G1805X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 193660 chr6 101086540 101086540 C T rs1030851660 ASCC3 Synonymous SNV S1353S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.55 193661 chr7 150835346 150835346 G A rs775003565 AGAP3 Nonsynonymous SNV A538T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 193662 chrX 53574992 53574992 G A rs146554767 HUWE1 Synonymous SNV L3426L 0.002 0.005 0 0 2 2 0 0 0 1 0 0 Benign/Likely benign 6.835 193663 chr5 94877561 94877561 T A TTC37 Nonsynonymous SNV D95V 0.004 0 0 0 5 0 0 0 0 0 0 0 24.7 193664 chr7 151879262 151879262 T C rs144021585 KMT2C Nonsynonymous SNV M1895V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 193665 chr7 100675128 100675128 G A rs76440115 MUC17 Nonsynonymous SNV G144D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.018 193666 chr7 100675713 100675713 C T rs4729645 MUC17 Nonsynonymous SNV T339M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.182 193667 chr7 100680132 100680132 G A rs75782138 MUC17 Nonsynonymous SNV S1812N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.091 193668 chr7 100680248 100680248 C A rs146323653 MUC17 Nonsynonymous SNV P1851T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.001 193669 chr7 100680256 100680256 A C rs148675022 MUC17 Nonsynonymous SNV E1853D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.126 193670 chr7 100680261 100680261 C G rs141195508 MUC17 Nonsynonymous SNV T1855S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.26 193671 chr7 100680268 100680268 A G rs529733229 MUC17 Nonsynonymous SNV I1857M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.002 193672 chr7 100680269 100680269 G C rs139009576 MUC17 Nonsynonymous SNV A1858P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.018 193673 chr7 100680280 100680280 G T rs141016213 MUC17 Synonymous SNV T1861T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.552 193674 chr7 100680286 100680286 T G rs144965214 MUC17 Nonsynonymous SNV S1863R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.701 193675 chr7 100680538 100680538 A C rs78512922 MUC17 Synonymous SNV S1947S 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.009 193676 chr7 100683050 100683050 T G rs74403802 MUC17 Nonsynonymous SNV S2785A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 0.057 193677 chr7 100683864 100683864 C T rs77120544 MUC17 Nonsynonymous SNV T3056M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 19.92 193678 chr7 2108886 2108886 G A rs914067213 MAD1L1 Synonymous SNV R295R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.945 193679 chr6 108395591 108395591 G T rs1016123367 OSTM1 Nonsynonymous SNV L89M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 193680 chr6 10898290 10898290 G T SYCP2L Nonsynonymous SNV G128V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.039 193681 chr7 112724405 112724405 G T GPR85 Synonymous SNV A124A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 193682 chr7 113519350 113519350 C A PPP1R3A Nonsynonymous SNV E599D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 193683 chr7 117420583 117420583 G A rs761075994 CTTNBP2 Nonsynonymous SNV T794I 0.002 0 0 0 2 0 0 0 0 0 0 0 31 193684 chr17 72875656 72875656 T A rs185169950 FADS6 Nonsynonymous SNV S262C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 193685 chr7 30491397 30491397 C T NOD1 Nonsynonymous SNV E546K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 193686 chr7 1097813 1097813 A G rs140289241 GPR146 Nonsynonymous SNV D221G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.54 193687 chr22 32792165 32792165 C T RTCB Nonsynonymous SNV A296T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 193688 chr7 127235999 127235999 C A rs201553815 FSCN3 Nonsynonymous SNV H261Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.22 193689 chr6 117864310 117864310 A G DCBLD1 Nonsynonymous SNV I461V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 193690 chr17 73564773 73564773 T C rs762316279 LLGL2 Nonsynonymous SNV M418T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.999 193691 chr1 10161166 10161166 C T UBE4B Synonymous SNV S116S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 193692 chr1 10316344 10316344 C A rs143654307 KIF1B Nonsynonymous SNV S49Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 28.1 193693 chr17 73624353 73624353 T G rs140565320 RECQL5 Nonsynonymous SNV N917T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 16.12 193694 chr1 10403293 10403293 G A rs140229905 KIF1B Synonymous SNV P1166P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 12.8 193695 chr17 73657118 73657118 C T rs149970344 RECQL5 Synonymous SNV V301V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 193696 chr17 73760150 73760150 C T GALK1 Synonymous SNV T61T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 193697 chr7 123599755 123599755 C T rs139557990 SPAM1 Nonsynonymous SNV P421L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23 193698 chr17 73922233 73922233 C T rs775681384 FBF1 Nonsynonymous SNV R249H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 193699 chr6 138613141 138613141 G C rs371919461 ARFGEF3 Nonsynonymous SNV G1107R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 193700 chr6 136683744 136683744 G A MAP7 Nonsynonymous SNV P363L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 193701 chr7 47440006 47440006 C T rs185628192 TNS3 Synonymous SNV T301T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.17 193702 chr7 47474967 47474967 C T rs199837393 TNS3 Synonymous SNV P79P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.72 193703 chr7 47479166 47479166 G A rs374600543 TNS3 Synonymous SNV A23A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 193704 chr1 1139475 1139475 C T rs770584344 TNFRSF18 Synonymous SNV L180L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.276 193705 chr7 134650074 134650074 C T rs143329868 CALD1 Synonymous SNV D510D 0.003 0 0 0 4 0 0 0 1 0 0 0 16.94 193706 chr6 144262977 144262977 A C PLAGL1 Nonsynonymous SNV C326G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.234 193707 chr17 77081799 77081799 C T ENGASE Nonsynonymous SNV R600W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 193708 chr17 78021155 78021155 C T rs117419007 CCDC40 Synonymous SNV S210S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.88 193709 chr7 48634376 48634376 G C rs764580692 ABCA13 Nonsynonymous SNV R4904P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 193710 chr7 142562054 142562054 - CCT EPHB6 S176_A177insS 0.001 0 0 0 1 0 0 0 0 0 0 0 193711 chr7 142605840 142605840 G A rs148222818 TRPV5 Nonsynonymous SNV A677V 0.003 0.01 0.014 0 3 4 0 4 0 0 0 0 5.936 193712 chr17 78172267 78172267 G A rs375480599 CARD14 Synonymous SNV G339G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.915 193713 chr6 15501310 15501310 C T rs149364410 JARID2 Synonymous SNV L534L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 193714 chr1 119427436 119427436 T C rs200564235 TBX15 Synonymous SNV Q576Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 193715 chr17 79496275 79496275 G A rs370156011 FSCN2 Nonsynonymous SNV A240T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 193716 chr7 149492658 149492658 C G rs376787072 SSPO 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.15 193717 chr6 161135849 161135849 G A rs1005986976 PLG Nonsynonymous SNV E191K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 193718 chr5 150887014 150887014 C A FAT2 Nonsynonymous SNV C4073F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 193719 chr6 158516750 158516750 G A rs763382477 SYNJ2 Nonsynonymous SNV R1045Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.514 193720 chr17 79914795 79914795 G A rs138384810 NOTUM Nonsynonymous SNV T284M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 193721 chr1 146649867 146649867 C T rs116320121 PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.722 193722 chr1 146650361 146650361 A G rs587667387 PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.282 193723 chr7 148487467 148487467 G A rs764499381 CUL1 Synonymous SNV T580T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 193724 chr17 80013064 80013064 C G rs11539402 GPS1 Synonymous SNV T238T 0.003 0 0 0 4 0 0 0 0 0 0 0 15.79 193725 chr1 146763171 146763171 T A rs61756300 CHD1L Nonsynonymous SNV S572R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.4 193726 chr7 73474236 73474271 GTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGT - rs782202364 ELN V404_G415del 0 0.003 0 0 0 1 0 0 0 0 0 0 193727 chr7 149517784 149517784 G A rs201878456 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 193728 chr7 150094764 150094764 G A rs1008201392 ZNF775 Nonsynonymous SNV E399K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.28 193729 chr7 150105314 150105314 C T rs764932739 LOC728743 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 193730 chr7 154875913 154875913 G A rs150067714 HTR5A Nonsynonymous SNV A264T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.76 193731 chr7 150693604 150693604 G A rs148359917 NOS3 Nonsynonymous SNV R128Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 20.9 193732 chr18 3067317 3067317 C T rs376007739 MYOM1 Synonymous SNV E1571E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.25 193733 chr18 3129309 3129309 T C rs200170795 MYOM1 Synonymous SNV E905E 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.004 193734 chr1 152595405 152595405 G A rs16834245 LCE3A Nonsynonymous SNV R59C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.48 193735 chr1 152659628 152659628 C T rs11205074 LCE2B Synonymous SNV C103C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.015 193736 chr7 151262890 151262890 T C rs370257703 PRKAG2 Nonsynonymous SNV I198V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.85 193737 chr1 152882808 152882808 C G rs7520592 IVL Nonsynonymous SNV Q179E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.77 193738 chr18 6243359 6243359 C T L3MBTL4 Nonsynonymous SNV G132S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 193739 chr6 24797679 24797679 C G ARMH2 Nonsynonymous SNV A218P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 193740 chr18 7117659 7117660 CT - LAMA1 G21Pfs*49 0.001 0 0 0 1 0 0 0 0 0 0 0 193741 chr7 92887500 92887500 C T rs370247072 VPS50 Nonsynonymous SNV T151I 0 0.003 0 0 0 1 0 0 0 0 0 0 29 193742 chr6 169632151 169632151 C T rs768518130 THBS2 Nonsynonymous SNV G692E 0.002 0 0 0 2 0 0 0 0 0 0 0 32 193743 chr1 154234121 154234121 G A rs36114119 UBAP2L Synonymous SNV S950S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.77 193744 chr2 113316948 113316948 G A rs377419452 POLR1B Nonsynonymous SNV R259H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 193745 chr1 155247433 155247433 G A HCN3 Nonsynonymous SNV G18R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 193746 chr6 24175055 24175055 A G rs753419903 DCDC2 Nonsynonymous SNV V445A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.611 193747 chr1 155295003 155295003 G C rs12087231 RUSC1 Nonsynonymous SNV R2T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.711 193748 chr7 21945926 21945926 C T rs780113859 CDCA7L Nonsynonymous SNV R255Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 193749 chr1 156177789 156177789 A C rs35498542 SLC25A44 Synonymous SNV I254I 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 3.716 193750 chr1 156237971 156237971 A C rs56280074 SMG5 Nonsynonymous SNV C281W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 193751 chr1 156504370 156504370 A G rs61740414 IQGAP3 Synonymous SNV A1221A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.379 193752 chr1 15655747 15655747 C T rs571260 FHAD1-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.725 193753 chr1 15833506 15833506 C T rs2308950 CASP9 Nonsynonymous SNV R173H 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.292 193754 chr4 107165879 107165879 A G rs145386125 TBCK Nonsynonymous SNV V262A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 23.5 193755 chr8 10583684 10583684 G T rs556957174 SOX7 Nonsynonymous SNV P244Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 193756 chr8 10683751 10683751 G T rs537812142 PINX1 Nonsynonymous SNV S102Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 193757 chr1 158607983 158607983 C T rs771033064 SPTA1 Nonsynonymous SNV G1677R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.6 193758 chr2 136564885 136564885 G A rs555708380 LCT Nonsynonymous SNV T1329M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 28.3 193759 chr1 158641144 158641144 C T rs767641820 SPTA1 Nonsynonymous SNV E530K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 193760 chr2 137988713 137988713 C T rs61741154 THSD7B Nonsynonymous SNV T608M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 33 193761 chr8 11637370 11637370 C T rs576426897 NEIL2 Synonymous SNV S73S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.952 193762 chr7 36396645 36396645 T C rs200592440 KIAA0895 Nonsynonymous SNV T194A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 193763 chr1 159170797 159170797 C T rs3027003 CADM3-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.25 193764 chr1 161042635 161042635 G A rs758638429 NECTIN4 Nonsynonymous SNV T450M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 193765 chr1 161953691 161953691 C T rs370824607 OLFML2B Nonsynonymous SNV C677Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 193766 chr5 37064970 37064970 C T rs997526101 NIPBL Synonymous SNV A2797A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.54 193767 chr6 43111342 43111342 G C rs9472017 PTK7 Nonsynonymous SNV E615D 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 26.5 193768 chr2 163124024 163124024 G C rs144455277 IFIH1 Nonsynonymous SNV Q955E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Likely benign 0.013 193769 chr6 43639573 43639573 G A MRPS18A Nonsynonymous SNV R173C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.68 193770 chr1 16558757 16558757 C T rs201038756 CPLANE2 Nonsynonymous SNV R188Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.34 193771 chr6 38891038 38891038 A G rs560733120 DNAH8-AS1 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 3.348 193772 chr1 166818782 166818782 G A rs374953651 POGK Synonymous SNV R204R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.75 193773 chr6 44394301 44394301 A C CDC5L Nonsynonymous SNV E578A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 193774 chr2 170042024 170042024 G A rs758364082 LRP2 Synonymous SNV D3278D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.341 193775 chr6 49483464 49483464 A G GLYATL3 Synonymous SNV R59R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.45 193776 chr6 50696940 50696940 A G rs79756578 TFAP2D Synonymous SNV R266R 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 Benign 3.866 193777 chr1 173839434 173839434 A G ZBTB37 Nonsynonymous SNV Q24R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 193778 chr18 61569662 61569662 A G SERPINB2 Nonsynonymous SNV M235V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 193779 chr6 43012515 43012515 G A rs111240161 CUL7 Synonymous SNV P1133P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.46 193780 chr6 43155759 43155759 C T rs375220618 CUL9 Synonymous SNV T630T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.93 193781 chr2 173352130 173352130 G A rs141344340 ITGA6 Synonymous SNV T703T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.466 193782 chr6 44229550 44229550 C T rs376990925 NFKBIE Synonymous SNV P168P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 193783 chr18 67863739 67863739 T C RTTN Nonsynonymous SNV H280R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 193784 chr6 70500333 70500333 C T rs150831620 LMBRD1 Nonsynonymous SNV R34H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.7 193785 chr8 144942632 144942632 C T rs532952345 EPPK1 Nonsynonymous SNV R1597Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 193786 chr1 181719612 181719612 G T CACNA1E Synonymous SNV A1221A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 193787 chr6 53787514 53787514 A G rs748863973 LRRC1 Nonsynonymous SNV M500V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.998 193788 chr7 82578820 82578820 G T PCLO Nonsynonymous SNV A3695D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 193789 chr7 86468909 86468909 G A GRM3 Synonymous SNV L693L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.215 193790 chr7 92099293 92099293 G T ERVW-1 Nonsynonymous SNV Q135K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 193791 chr7 92732816 92732816 A G SAMD9 Synonymous SNV F865F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 193792 chr7 100205111 100205111 G A rs368522083 PCOLCE Nonsynonymous SNV G326D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 193793 chr7 100420041 100420041 G A rs200580904 EPHB4 Synonymous SNV A220A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.372 193794 chr7 93108683 93108683 G A rs757663585 CALCR Nonsynonymous SNV P63L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 193795 chr6 74073501 74073501 C A rs146663357 KHDC3L Nonsynonymous SNV T191N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 193796 chr7 99474428 99474428 T C rs140190815 OR2AE1 Nonsynonymous SNV I77V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 193797 chr2 198359426 198359426 A G rs141357756 HSPD1 Synonymous SNV S187S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 12.18 193798 chr8 100050713 100050713 A G rs201517617 VPS13B Synonymous SNV P70P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.474 193799 chr1 201180140 201180140 C G IGFN1 Nonsynonymous SNV A2040G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 193800 chr1 202777359 202777359 C T rs754083922 KDM5B Synonymous SNV E25E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 193801 chr6 87968005 87968005 C T rs199744299 ZNF292 Nonsynonymous SNV T1553M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.3 193802 chr1 203037638 203037638 G T rs758829277 PPFIA4 Nonsynonymous SNV R1060L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 193803 chr19 3114987 3114987 C T GNA11 Synonymous SNV P174P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 193804 chr11 1017454 1017454 C A rs536994070 MUC6 Nonsynonymous SNV A1783S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.267 193805 chr19 3206405 3206405 A G rs138437194 NCLN Nonsynonymous SNV H493R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.957 193806 chr2 207173057 207173057 G C rs200401599 ZDBF2 Nonsynonymous SNV E1269Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.31 193807 chr4 3318007 3318007 C T rs201540584 RGS12 Nonsynonymous SNV S37L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 193808 chr4 3502477 3502477 A T DOK7 Nonsynonymous SNV R440S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 193809 chr6 110620355 110620355 T C METTL24 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 193810 chr1 205312458 205312458 A G rs749971098 KLHDC8A Nonsynonymous SNV L92P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 193811 chr1 209807808 209807808 C T rs150895872 LAMB3 Nonsynonymous SNV R183H 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.49 193812 chr8 33355964 33355964 G A MAK16 Synonymous SNV L240L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 193813 chr8 3855480 3855480 G C rs771773804 CSMD1 Nonsynonymous SNV L255V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 193814 chr2 219299355 219299355 G A rs143261714 VIL1 Nonsynonymous SNV R536Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.8 193815 chr8 41161049 41161049 C T rs565294570 SFRP1 Nonsynonymous SNV V185M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 193816 chr19 5692054 5692054 C T rs771871770 LONP1 Nonsynonymous SNV V761M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 193817 chr19 5693712 5693712 C T LONP1 Nonsynonymous SNV D601N 0.001 0 0 0 1 0 0 0 0 0 0 0 22 193818 chr8 57079174 57079174 C T PLAG1 Synonymous SNV S295S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 193819 chr1 220440414 220440414 T C rs41304119 AURKAP1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.092 193820 chr1 221507172 221507172 G A rs11579760 C1orf140 0 0 0.017 0 0 0 0 5 0 0 0 0 8.508 193821 chr2 220357436 220357436 G A rs763740486 SPEG Synonymous SNV E3244E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.83 193822 chr19 6732119 6732119 G A rs375230406 GPR108 Synonymous SNV G391G 0.003 0 0 0 4 0 0 0 0 0 0 0 10.95 193823 chr8 67958066 67958066 C A COPS5 Nonsynonymous SNV A301S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 193824 chr19 7677750 7677750 C G CAMSAP3 Nonsynonymous SNV L791V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 193825 chr8 143558822 143558822 G A rs752254011 ADGRB1 Synonymous SNV T433T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 193826 chr19 8006026 8006026 C T rs147729581 TIMM44 Synonymous SNV S34S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12 193827 chr7 117199524 117199524 C T rs1800089 CFTR Nonsynonymous SNV L467F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 193828 chr7 120450618 120450618 C G rs145676655 TSPAN12 Nonsynonymous SNV V123L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.65 193829 chr8 94746335 94746335 T C rs199643296 RBM12B Synonymous SNV P768P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.185 193830 chr1 227327424 227327424 A G rs201022380 CDC42BPA Nonsynonymous SNV C415R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 193831 chr11 118376492 118376494 CAT - KMT2A I3296del 0.003 0 0 0 3 0 0 0 0 0 0 0 193832 chr19 8587624 8587624 G A rs754535521 MYO1F Nonsynonymous SNV R978W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 193833 chr1 228437675 228437675 C T rs199655077 OBSCN Nonsynonymous SNV A1348V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.843 193834 chr1 228469799 228469799 A G rs747476962 OBSCN Nonsynonymous SNV Q2788R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 193835 chr8 144942387 144942387 G A rs199598193 EPPK1 Nonsynonymous SNV R1679C 0.003 0 0 0 3 0 0 0 0 0 0 0 33 193836 chr7 128446398 128446398 C T rs191944826 CCDC136 Synonymous SNV L399L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.35 193837 chr8 144996986 144996986 C T rs782558197 PLEC Nonsynonymous SNV E2357K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 193838 chr4 77691985 77691985 G A rs140072838 SHROOM3 Synonymous SNV S1852S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 193839 chr11 122665528 122665528 T A rs201871388 UBASH3B Nonsynonymous SNV C332S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 19.56 193840 chr4 79400581 79400581 A G rs754424180 FRAS1 Nonsynonymous SNV M2718V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.792 193841 chr1 231402086 231402086 G T rs201563848 GNPAT Nonsynonymous SNV D269Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.6 193842 chr8 145660923 145660923 G A rs537223431 TONSL Nonsynonymous SNV P929L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.751 193843 chr4 84377287 84377287 G C rs199771286 MRPS18C Nonsynonymous SNV L19F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.039 193844 chr7 142829287 142829287 C A rs367680918 PIP Nonsynonymous SNV N26K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.9 193845 chr1 242021897 242021897 G A rs565914499 EXO1 Synonymous SNV T211T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 193846 chr19 9076111 9076111 A G MUC16 Nonsynonymous SNV S3779P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.973 193847 chr7 130295849 130295849 G A rs782715453 COPG2 Nonsynonymous SNV R238C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 193848 chr8 1872008 1872008 T C rs200515878 ARHGEF10 Nonsynonymous SNV V781A 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 12.9 193849 chr7 132169674 132169674 C T rs774508537 PLXNA4 Synonymous SNV L490L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.997 193850 chr9 118949478 118949478 T C rs764959068 PAPPA Nonsynonymous SNV V154A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.412 193851 chr7 1511954 1511954 T C rs199728337 INTS1 Nonsynonymous SNV M2047V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.486 193852 chr7 151841821 151841821 A G rs574886018 KMT2C Nonsynonymous SNV Y4774H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 193853 chr19 9965432 9965432 C T rs753751803 OLFM2 Synonymous SNV P187P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.311 193854 chr5 112174762 112174762 G A rs143927847 APC Synonymous SNV E1139E 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 3.539 193855 chr7 20793075 20793075 C T ABCB5 Synonymous SNV P729P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.11 193856 chr7 1477795 1477795 C T rs767507443 MICALL2 Nonsynonymous SNV R750Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.958 193857 chr19 11040256 11040256 G A rs150842814 TIMM29 Nonsynonymous SNV V221M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 193858 chr2 29451762 29451762 C T rs766551269 ALK Nonsynonymous SNV G935R 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 34 193859 chr8 38827226 38827226 C T rs779235903 PLEKHA2 Nonsynonymous SNV S401L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 193860 chr8 39678539 39678539 A G rs200992362 ADAM2 Synonymous SNV F165F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.472 193861 chr2 37041453 37041453 C G rs866034347 VIT Synonymous SNV P641P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.43 193862 chr2 37459359 37459359 C T rs866348027 NDUFAF7 Nonsynonymous SNV P56S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 31 193863 chr7 29152418 29152418 C T rs747596638 CPVL Nonsynonymous SNV G64S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.296 193864 chr19 14274145 14274145 G A rs756602442 ADGRL1 Synonymous SNV G156G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.826 193865 chr9 132084867 132084867 G A rs746774164 C9orf106 0 0.005 0 0 0 2 0 0 0 0 0 0 7.258 193866 chr19 15067392 15067392 G A rs763203649 SLC1A6 Synonymous SNV G355G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.748 193867 chr7 33313480 33313480 A G rs369647403 BBS9 Nonsynonymous SNV N188D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 8.465 193868 chr1 36521345 36521345 A G AGO3 Synonymous SNV X627X 0 0 0.003 0 0 0 0 1 0 0 0 0 4.831 193869 chr8 67791120 67791120 A G MCMDC2 Synonymous SNV P225P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 7.091 193870 chr19 15198719 15198719 C G OR1I1 Nonsynonymous SNV F281L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 193871 chr1 36929759 36929759 G A rs773433131 MRPS15 Synonymous SNV L40L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 193872 chr7 36396752 36396752 C T KIAA0895 Nonsynonymous SNV C158Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 193873 chr8 69033249 69033249 G A rs114811202 PREX2 Nonsynonymous SNV R1230Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 193874 chr8 73984080 73984080 T C rs575296920 SBSPON Synonymous SNV A145A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 193875 chr7 43484329 43484329 G A rs761265435 HECW1 Nonsynonymous SNV G520S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.199 193876 chr1 40533303 40533303 C T rs552626695 CAP1 Nonsynonymous SNV P241L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.1 193877 chr11 35250801 35250801 C T rs143428254 CD44 Nonsynonymous SNV S315L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.4 193878 chr11 36250776 36250776 C A rs763664115 LDLRAD3 Nonsynonymous SNV D240E 0.003 0 0 0 3 0 0 0 0 0 0 0 14.83 193879 chr8 95738634 95738634 T A rs375072866 DPY19L4 Nonsynonymous SNV I31N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 193880 chr1 45268678 45268678 G A rs144278029 PLK3 Synonymous SNV E267E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.629 193881 chr8 96047703 96047703 A C rs767438662 NDUFAF6 Nonsynonymous SNV K15Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 193882 chr7 30693147 30693147 G A rs772634618 CRHR2 Nonsynonymous SNV R388W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 193883 chr7 50514928 50514928 C T rs377263544 FIGNL1 Nonsynonymous SNV A20T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.25 193884 chr9 100684764 100684764 C T rs148772479 TRMO Synonymous SNV L4L 0.003 0 0 0 4 0 0 0 0 0 0 0 11.43 193885 chr7 6193877 6193877 C T rs373861053 USP42 Nonsynonymous SNV R898W 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 193886 chr2 95845973 95845973 T A rs199751140 ZNF2 Nonsynonymous SNV L35H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 193887 chr7 64853741 64853741 C T ZNF92 Synonymous SNV D51D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.42 193888 chr7 64853742 64853742 C T ZNF92 Synonymous SNV L52L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.44 193889 chr7 64853744 64853744 G A ZNF92 Synonymous SNV L52L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.92 193890 chr1 6145302 6145302 G C KCNAB2 Nonsynonymous SNV G40A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 193891 chr9 14819343 14819343 A G FREM1 Nonsynonymous SNV I812T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.59 193892 chr9 114124394 114124394 A G rs369702397 ECPAS Synonymous SNV S1812S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 4.205 193893 chr7 44184774 44184774 C A rs761968548 GCK Synonymous SNV S116S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 193894 chr1 6270326 6270326 C T rs750819193 RNF207 Nonsynonymous SNV H282Y 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 193895 chr9 19094358 19094358 G T rs754771066 HAUS6 Nonsynonymous SNV T87N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.52 193896 chr1 6662302 6662302 C T rs775044125 KLHL21 Synonymous SNV V192V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 193897 chr9 119130030 119130030 A G rs3827668 PAPPA Synonymous SNV V1534V 0.006 0.008 0 1 7 3 0.003 0 0 0 0 0 4.943 193898 chr9 35674233 35674233 G A CA9 Nonsynonymous SNV E93K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.52 193899 chr19 35786414 35786414 G A rs373592019 MAG 0.001 0 0 0 1 0 0 0 0 0 0 0 4.016 193900 chr19 35832695 35832695 A G rs200478498 CD22 Nonsynonymous SNV N444S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 193901 chr7 94228131 94228134 TGTG - SGCE H352Qfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 193902 chr9 130575617 130575617 C T rs201429210 FPGS Synonymous SNV L474L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.945 193903 chr8 110397823 110397823 C T rs371412256 PKHD1L1 Nonsynonymous SNV A178V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 193904 chr1 9795068 9795068 C T rs776252132 CLSTN1 Nonsynonymous SNV R664H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 193905 chr9 131708253 131708253 C A DOLK Nonsynonymous SNV V444F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 193906 chr9 96438894 96438894 A G rs766706839 PHF2 Nonsynonymous SNV K951E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 193907 chr19 39868460 39868460 C A rs146070439 SAMD4B Synonymous SNV G480G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 193908 chr8 121216092 121216092 A G rs200988111 COL14A1 Nonsynonymous SNV Q341R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 193909 chr8 124089460 124089460 C G rs143770939 TBC1D31 Nonsynonymous SNV Q63E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.83 193910 chr9 132631229 132631229 C G rs376078669 USP20 Nonsynonymous SNV S408R 0.002 0 0 0 2 0 0 0 0 0 0 0 24 193911 chr19 40225031 40225031 G C rs146776010 CLC Nonsynonymous SNV N65K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23 193912 chrX 107929291 107929291 G A rs753765957 COL4A5 Nonsynonymous SNV R1410H 0 0.005 0 0 0 2 0 0 0 1 0 0 26.8 193913 chr5 37167182 37167182 G A rs146595129 CPLANE1 Nonsynonymous SNV P2456L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.17 193914 chr5 37170233 37170233 C A CPLANE1 Nonsynonymous SNV M2124I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.15 193915 chr9 134351730 134351730 T G rs199680662 PRRC2B Nonsynonymous SNV L1405R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.38 193916 chrX 134992651 134992651 G C rs147443347 SAGE1 Nonsynonymous SNV A648P 0.001 0.013 0.007 0 1 5 0 2 0 2 1 0 21.9 193917 chrX 135582906 135582906 G A HTATSF1 Nonsynonymous SNV E167K 0 0.005 0 0 0 2 0 0 0 1 0 0 23.4 193918 chr8 101287318 101287318 T C RNF19A Nonsynonymous SNV E249G 0.001 0 0 0 1 0 0 0 0 0 0 0 28 193919 chr19 44116880 44116880 G A rs78973318 SRRM5 Nonsynonymous SNV G203S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.03 193920 chr20 2187845 2187845 G A rs527901239 LOC388780 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 193921 chr7 1049758 1049758 C T rs61746340 C7orf50 Nonsynonymous SNV G51R 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 8.181 193922 chr8 10466376 10466376 C A RP1L1 Nonsynonymous SNV E1744D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 193923 chr9 139265441 139265441 C T rs747925378 CARD9 Nonsynonymous SNV R160H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 193924 chr20 31989330 31989330 G C CDK5RAP1 Nonsynonymous SNV S12W 0 0 0.003 0 0 0 0 1 0 0 0 0 5.667 193925 chr8 123965926 123965926 G A ZHX2 Nonsynonymous SNV V726M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.808 193926 chr19 45418157 45418157 C T APOC1 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 193927 chr9 15744453 15744453 A G rs775830971 CCDC171 Synonymous SNV R752R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.028 193928 chr8 144940226 144940226 T G rs782667795 EPPK1 Nonsynonymous SNV Q2399P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 193929 chr20 33575473 33575473 G C rs749585221 MYH7B Nonsynonymous SNV E463Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 193930 chr8 144943153 144943153 G A rs369225262 EPPK1 Synonymous SNV C1423C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.355 193931 chr20 34243014 34243014 C T rs778007156 RBM12 Synonymous SNV T77T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 193932 chr9 140671084 140671084 G A rs137852713 EHMT1 Synonymous SNV E571E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.48 193933 chr19 48863385 48863385 C A rs143735444 TMEM143 Nonsynonymous SNV A105S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.55 193934 chr9 26946945 26946945 G C rs368369595 PLAA Synonymous SNV A33A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.09 193935 chr10 101569935 101569935 T A rs141413284 ABCC2 Nonsynonymous SNV D620E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.63 193936 chr3 183480014 183480014 G A rs73175329 YEATS2 Nonsynonymous SNV V632I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.63 193937 chr9 4117885 4117885 C T rs143907151 GLIS3 Synonymous SNV G376G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 193938 chr19 49385323 49385323 C T rs769061792 TULP2 Synonymous SNV S471S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 193939 chr19 49459528 49459528 G A rs768643044 BAX Nonsynonymous SNV G25S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 193940 chr9 35650180 35650180 C G SIT1 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 193941 chr20 52781098 52781098 A C CYP24A1 Nonsynonymous SNV M246R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 193942 chr8 144621234 144621234 - C rs766107353 ZC3H3 Frameshift insertion Q102Pfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 193943 chr3 185638976 185638976 C T TRA2B 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 193944 chr8 144789416 144789416 G A CCDC166 Synonymous SNV H256H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.244 193945 chr9 4793142 4793142 C G rs752578020 RCL1 Synonymous SNV R17R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 193946 chr8 21983124 21983124 C T rs73549518 HR Synonymous SNV G509G 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Likely benign 9.083 193947 chr8 144945724 144945724 G A rs782084767 EPPK1 Synonymous SNV T566T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.64 193948 chr8 144946102 144946102 G A rs369399530 EPPK1 Synonymous SNV D440D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.41 193949 chr8 144947044 144947044 G A rs377574983 EPPK1 Synonymous SNV Y126Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.042 193950 chr3 190374378 190374378 C T rs199999288 IL1RAP Synonymous SNV N682N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.604 193951 chr20 60581713 60581713 C T TAF4 Synonymous SNV A692A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 193952 chr20 60808345 60808345 G A rs930342458 LOC105369209 0 0 0.003 0 0 0 0 1 0 0 0 0 1.757 193953 chr9 91653142 91653142 G A rs115450436 SHC3 Synonymous SNV S474S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 193954 chr9 91961836 91961836 G T rs62638732 SECISBP2 Nonsynonymous SNV G423V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.94 193955 chr9 79888191 79888196 TTCAGA - VPS13A I810Ffs*16 0.002 0 0 0 2 0 0 0 0 0 0 0 193956 chr8 26227882 26227882 G A rs902850129 PPP2R2A Nonsynonymous SNV V443I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.79 193957 chr9 90283553 90283553 C A rs754329945 DAPK1 Nonsynonymous SNV H655Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.18 193958 chr9 90584183 90584183 C T rs140721514 CDK20 Nonsynonymous SNV V236I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.34 193959 chr8 145692219 145692219 C T rs775158809 KIFC2 Nonsynonymous SNV A59V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.069 193960 chr9 94487238 94487238 G A rs755892163 ROR2 Nonsynonymous SNV A513V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.02 193961 chr8 145742480 145742480 G A rs199543866 RECQL4 Nonsynonymous SNV P103L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.911 193962 chrX 103294639 103294639 G A H2BW2 Synonymous SNV K32K 0.003 0.008 0 0 3 3 0 0 1 0 0 0 0.382 193963 chr3 197427913 197427913 C T rs1051145353 RUBCN Nonsynonymous SNV V218I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.157 193964 chr8 17731530 17731530 T C FGL1 Nonsynonymous SNV Q167R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 193965 chr6 112506481 112506481 C T rs147069572 LAMA4 Synonymous SNV T345T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 18.49 193966 chr19 52394838 52394838 C T rs370274575 ZNF649 Nonsynonymous SNV G184E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 193967 chrX 100364925 100364925 C T rs775674652 CENPI Nonsynonymous SNV R177C 0.003 0 0 0 3 0 0 0 1 0 0 0 22.3 193968 chr8 1842737 1842737 C T rs201240439 ARHGEF10 Nonsynonymous SNV S442L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 193969 chr8 38809772 38809772 G A rs776958971 PLEKHA2 Nonsynonymous SNV R192H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 193970 chr10 127708330 127708330 C T rs753449687 ADAM12 Nonsynonymous SNV R865Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.26 193971 chr10 12867650 12867650 A G CAMK1D Nonsynonymous SNV S334G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.75 193972 chr6 117248470 117248470 C T rs73765886 RFX6 Synonymous SNV T722T 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 13.43 193973 chr8 22021501 22021501 C G rs201685063 SFTPC Nonsynonymous SNV L128V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.1 193974 chr21 33684111 33684111 C A MRAP Nonsynonymous SNV A49E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.296 193975 chrX 127185311 127185311 T C rs144040239 ACTRT1 Nonsynonymous SNV N292S 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 4.609 193976 chr6 129921908 129921908 G A rs751247222 ARHGAP18 Nonsynonymous SNV P484L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 193977 chr21 34721766 34721766 A G rs770688662 IFNAR1 Nonsynonymous SNV K354E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 193978 chr21 35254683 35254683 C T ITSN1 Nonsynonymous SNV T1488M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 193979 chrX 140993842 140993842 - CTGAGAGAACTCAGAGTCCTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT MAGEC1 S223_T224insPFEGFAQSPLQIPVSPSFSSTLLSLFQSFSERTQS 0.003 0 0 0 3 0 0 0 1 0 0 0 193980 chr10 135106712 135106712 G A rs150131271 TUBGCP2 Synonymous SNV Y155Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.95 193981 chr21 38600077 38600077 G A rs145699076 VPS26C Nonsynonymous SNV T105M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 193982 chr19 54671966 54671966 C T rs147241845 TMC4 Nonsynonymous SNV R249H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.86 193983 chr21 43411471 43411471 C T ZBTB21 Nonsynonymous SNV E912K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 193984 chrX 153694368 153694368 C T rs782480846 PLXNA3 Nonsynonymous SNV R875W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 193985 chrX 20071079 20071079 A G rs145916056 MAP7D2 Nonsynonymous SNV M171T 0.003 0 0 0 3 0 0 0 1 0 0 0 13.26 193986 chr3 47448239 47448239 G A rs148327878 PTPN23 Nonsynonymous SNV R143Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 193987 chr21 46066594 46066594 C T rs782562198 KRTAP10-11 Synonymous SNV S73S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.31 193988 chr7 44266135 44266135 G C rs528355050 CAMK2B Nonsynonymous SNV P526R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.891 193989 chr21 46888291 46888291 G A rs371058906 COL18A1 Nonsynonymous SNV R261Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 193990 chrX 51151196 51151196 C T rs199809519 EZHIP Nonsynonymous SNV S443F 0.003 0 0 0 3 0 0 0 0 0 0 0 7.435 193991 chr19 56126342 56126342 C G rs938247738 ZNF865 Nonsynonymous SNV P453R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 193992 chr10 44111885 44111885 T G rs187193865 ZNF485 Nonsynonymous SNV C41G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 193993 chr7 48318242 48318242 G A rs79834369 ABCA13 Nonsynonymous SNV R2484K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.627 193994 chr9 115200754 115200754 C T rs748034970 HSDL2 Synonymous SNV I141I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 193995 chr19 57642083 57642083 T C rs147970681 USP29 Synonymous SNV V680V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 193996 chr22 21354557 21354557 G A THAP7 Nonsynonymous SNV P181L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 193997 chr8 8748032 8748032 G C rs75923733 MFHAS1 Nonsynonymous SNV A846G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 193998 chr12 100955723 100955723 A G rs755515451 NR1H4 Nonsynonymous SNV K386R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 193999 chr12 101018321 101018321 G A rs35982598 GAS2L3 Nonsynonymous SNV D580N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.493 194000 chr10 102255167 102255167 C G SEC31B Nonsynonymous SNV R816T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 194001 chr10 102250007 102250007 C A SEC31B Nonsynonymous SNV W908L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.66 194002 chr12 102869533 102869533 C T rs371125874 IGF1 Synonymous SNV A36A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.43 194003 chr8 97296341 97296341 G A rs762184286 PTDSS1 Synonymous SNV P92P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 194004 chr9 118950134 118950134 G A rs116194500 PAPPA Nonsynonymous SNV E373K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 194005 chr12 104134518 104134518 C T rs151219602 STAB2 Synonymous SNV F1955F 0.003 0.003 0.017 0 3 1 0 5 0 0 0 0 20.2 194006 chr10 104417048 104417048 C T rs199997459 TRIM8 Synonymous SNV P499P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 194007 chr10 104174738 104174738 C T rs150603372 PSD Nonsynonymous SNV G336S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.43 194008 chr10 55568527 55568527 C T rs139441645 PCDH15 Synonymous SNV A1759A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 18.87 194009 chr10 105174785 105174785 A G rs139826001 PDCD11 Synonymous SNV S465S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.115 194010 chr3 69245464 69245464 C T rs777816584 FRMD4B Synonymous SNV V392V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 194011 chr9 104192079 104192079 G A rs549682194 ALDOB Synonymous SNV F94F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.5 194012 chr9 104313033 104313033 G A rs117628734 RNF20 Nonsynonymous SNV R413K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.29 194013 chr22 28378351 28378351 C T rs56085644 TTC28 Nonsynonymous SNV R2435H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 15.83 194014 chr10 106974311 106974311 C T rs201995416 SORCS3 Synonymous SNV T829T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.97 194015 chr10 64968828 64968828 A G rs370649422 JMJD1C Synonymous SNV H735H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 6.318 194016 chr20 402882 402882 G A rs201470953 RBCK1 Synonymous SNV A173A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.83 194017 chr10 116068273 116068273 C T rs144885661 AFAP1L2 Nonsynonymous SNV D296N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 194018 chr9 130223528 130223528 A G rs893562820 LRSAM1 Nonsynonymous SNV N133S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.66 194019 chr6 3232360 3232360 C T rs546027859 LOC100422781 0.003 0 0 0 3 0 0 0 0 0 0 0 11.63 194020 chr22 35717957 35717957 A G rs150786456 TOM1 Nonsynonymous SNV K15R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 194021 chr10 121551563 121551563 T G INPP5F Synonymous SNV A209A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.661 194022 chr12 120763759 120763759 G A PLA2G1B Synonymous SNV C33C 0.003 0 0 0 3 0 0 0 0 0 0 0 7.794 194023 chr22 40082306 40082306 G A rs186796996 CACNA1I Nonsynonymous SNV G2155S 0.003 0 0.003 0 4 0 0 1 1 0 0 0 14.08 194024 chr22 41546158 41546158 C A rs148884710 EP300 Nonsynonymous SNV P899T 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign/Likely benign 17.48 194025 chr20 10033879 10033879 C G ANKEF1 Nonsynonymous SNV P664A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 194026 chr22 42608341 42608341 C G rs951575214 TCF20 Nonsynonymous SNV V991L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 194027 chr4 114288733 114288733 C T ANK2 Nonsynonymous SNV L773F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 194028 chr9 125486989 125486989 A G rs754877798 OR1L4 Nonsynonymous SNV T241A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 194029 chr12 123832641 123832641 C T rs370886331 SBNO1 Nonsynonymous SNV E58K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 194030 chr9 126133597 126133597 C T rs77519868 CRB2 Nonsynonymous SNV R726C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 194031 chr22 46655374 46655374 G A rs141931711 PKDREJ Synonymous SNV F1282F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.64 194032 chr9 136918591 136918591 G A rs199612428 BRD3 Synonymous SNV T3T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.68 194033 chr4 128626771 128626771 C T INTU Nonsynonymous SNV P531L 0.003 0 0 6 3 0 0.015 0 0 0 0 0 25.8 194034 chr9 130482603 130482603 G A rs757959960 TTC16 Nonsynonymous SNV E183K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 194035 chr4 129770150 129770150 G T rs115545201 JADE1 Nonsynonymous SNV E104D 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 21.5 194036 chr20 25284255 25284255 G A rs146195280 ABHD12 Synonymous SNV H320H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.05 194037 chr22 50552119 50552119 G T rs150056734 MOV10L1 Synonymous SNV T262T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.619 194038 chr20 29891049 29891049 G A rs775075640 DEFB116 Nonsynonymous SNV S92L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 194039 chr10 135106102 135106102 G A rs144608474 TUBGCP2 Nonsynonymous SNV A242V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.5 194040 chr12 129694168 129694168 G A rs758554505 TMEM132D Nonsynonymous SNV T447M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 32 194041 chr20 30467694 30467694 A C TTLL9 Synonymous SNV R3R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.24 194042 chr20 31575466 31575466 C T rs753156524 SUN5 Synonymous SNV E243E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.89 194043 chr9 131709109 131709109 C G DOLK Synonymous SNV S158S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.287 194044 chr9 139417612 139417612 G A rs373713957 NOTCH1 Synonymous SNV C144C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 10.47 194045 chr9 131804639 131804639 G A rs567781829 MIGA2 Synonymous SNV T51T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 194046 chr9 133780706 133780706 G A rs202150215 FIBCD1 Synonymous SNV Y347Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.439 194047 chr10 17362925 17362925 G A rs373482534 ST8SIA6 Synonymous SNV H383H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.921 194048 chr9 139925339 139925339 C T rs144843927 FUT7 Synonymous SNV A284A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.08 194049 chr8 133837585 133837585 G A PHF20L1 Synonymous SNV K545K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.612 194050 chr4 159790513 159790513 A C rs775536972 FNIP2 Nonsynonymous SNV M555L 0 0 0 3 0 0 0.008 0 0 0 0 0 0.006 194051 chr9 136918531 136918531 G C rs149246539 BRD3 Synonymous SNV P23P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.188 194052 chr9 19376544 19376544 T C RPS6 Nonsynonymous SNV K201R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 194053 chr9 138586903 138586903 C G rs145861345 SOHLH1 Nonsynonymous SNV E290Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.341 194054 chr10 33134811 33134811 T C rs77450542 CCDC7 Synonymous SNV D1176D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.086 194055 chr2 113888688 113888688 G T rs201638660 IL1RN Nonsynonymous SNV C91F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29 194056 chr11 101834095 101834095 G A rs375709302 CEP126 Nonsynonymous SNV A777T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 194057 chr20 44512013 44512013 C G rs115926000 ZSWIM1 Nonsynonymous SNV T261S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.52 194058 chr2 11798674 11798674 C T rs138784927 NTSR2 Synonymous SNV P388P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.53 194059 chr10 33515129 33515129 G T rs374630762 NRP1 Nonsynonymous SNV T357N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 194060 chr20 51872038 51872038 G A rs6097319 TSHZ2 Nonsynonymous SNV A678T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 194061 chr20 52192283 52192283 G C ZNF217 Nonsynonymous SNV S1007C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 194062 chr4 186536034 186536034 G A SORBS2 Nonsynonymous SNV A849V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 27.6 194063 chr10 50916518 50916518 A G rs768232153 C10orf53 Nonsynonymous SNV Q110R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 194064 chr2 152423740 152423740 C T NEB Nonsynonymous SNV C4332Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 194065 chr2 153533228 153533228 A C PRPF40A Nonsynonymous SNV M265R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 194066 chr4 2460483 2460483 C T rs140401213 CFAP99 Nonsynonymous SNV R399W 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 26.7 194067 chr2 160261391 160261391 T C rs200954317 BAZ2B Nonsynonymous SNV Q898R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 194068 chr10 70192041 70192041 G A rs201377109 DNA2 Nonsynonymous SNV R599C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 194069 chr20 61525292 61525292 G A rs144215924 DIDO1 Synonymous SNV L943L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.701 194070 chr2 163133343 163133343 G A rs761864966 IFIH1 Stop gain R720X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 194071 chr2 165358792 165358792 G A rs61748244 GRB14 Synonymous SNV G272G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 11.8 194072 chr20 62038243 62038243 C T rs749958721 KCNQ2 Synonymous SNV P763P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.33 194073 chr9 35043549 35043562 CCCCTGGAACTAGC - rs750946047 C9orf131 T276Sfs*6 0.002 0.003 0 0 2 1 0 0 0 0 0 0 194074 chr10 72503423 72503423 C T rs368309869 ADAMTS14 Nonsynonymous SNV R682C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 194075 chr2 170487376 170487384 TCTGATTCC - rs563441578 PPIG S217_S219del 0 0 0.003 0 0 0 0 1 0 0 0 0 194076 chr2 170502355 170502355 C T rs201509533 CCDC173 Stop gain W552X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 194077 chr10 72628181 72628181 C T rs201880207 SGPL1 Nonsynonymous SNV T232I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.95 194078 chr20 62229169 62229169 G A rs142154898 GMEB2 Synonymous SNV A134A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.721 194079 chr2 172248686 172248686 T C rs993961314 METTL8 Nonsynonymous SNV I4V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.316 194080 chr10 73831939 73831939 G A rs774108926 SPOCK2 Nonsynonymous SNV R108W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 194081 chr10 73846743 73846743 G A rs527243642 SPOCK2 Nonsynonymous SNV S66L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.555 194082 chr10 75672754 75672754 G A rs149869183 PLAU Nonsynonymous SNV R72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 194083 chr10 75550858 75550858 A C ZSWIM8 Nonsynonymous SNV E356A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 194084 chr10 76780395 76780395 C T rs201708684 KAT6B Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 194085 chr2 179415761 179415761 T C TTN Synonymous SNV R21434R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 194086 chr8 22853395 22853395 G A rs529567354 RHOBTB2 Nonsynonymous SNV R4Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.503 194087 chr10 81319070 81319070 G A SFTPA2 Nonsynonymous SNV P67L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 194088 chr21 30437364 30437364 A G rs143385323 CCT8 Synonymous SNV G156G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.69 194089 chr10 86008759 86008759 T C rs143761967 RGR Synonymous SNV S106S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.931 194090 chrX 140993821 140993821 T G rs79905587 MAGEC1 Nonsynonymous SNV L211V 0.002 0.01 0 3 2 4 0.008 0 0 2 0 0 9.623 194091 chr21 33671300 33671300 C A rs138040820 MRAP Nonsynonymous SNV N6K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 194092 chr9 80923459 80923459 G T rs145496413 PSAT1 Nonsynonymous SNV A234S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.4 194093 chr2 182780270 182780270 G C ITPRID2 Nonsynonymous SNV E482Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 194094 chr7 100679974 100679974 G A MUC17 Synonymous SNV T1759T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.922 194095 chr4 66217128 66217128 G A rs139853168 EPHA5 Synonymous SNV P808P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.01 194096 chr21 36088664 36088664 A G rs143913704 CLIC6 Nonsynonymous SNV T649A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 194097 chr9 95373657 95373657 G A rs200767218 CENPP Nonsynonymous SNV R36H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 194098 chr21 40568765 40568765 T G rs144838294 BRWD1 Nonsynonymous SNV Q2077P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.15 194099 chr9 96408046 96408046 T C rs183448716 PHF2 Synonymous SNV Y145Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.011 194100 chr2 191929596 191929596 C T rs61756200 STAT4 Nonsynonymous SNV R240Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.4 194101 chrX 32404572 32404572 T C rs72468638 DMD Nonsynonymous SNV K169R 0.003 0.005 0 1 3 2 0.003 0 1 1 0 0 Benign/Likely benign 24.5 194102 chrX 34148203 34148203 G A rs376245860 FAM47A Synonymous SNV D731D 0 0.005 0 0 0 2 0 0 0 1 0 0 2.099 194103 chr21 43176892 43176892 G A rs55798804 RIPK4 Synonymous SNV R89R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.464 194104 chr2 198263223 198263223 T C rs34532346 SF3B1 Synonymous SNV Q1032Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.114 194105 chr2 198274567 198274567 C T rs13012433 SF3B1 Synonymous SNV A277A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.1 194106 chr21 43508426 43508426 T C rs755569855 UMODL1 Nonsynonymous SNV M209T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.504 194107 chr21 43543050 43543050 G A rs376113213 UMODL1 Synonymous SNV L1035L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.808 194108 chrX 108696784 108696784 G - rs763599424 GUCY2F P446Lfs*25 0.002 0 0 0 2 0 0 0 0 0 0 0 194109 chr2 202582895 202582895 A C rs3219166 ALS2 Synonymous SNV G1247G 0.001 0 0.017 0 1 0 0 5 0 0 0 0 Likely benign 3.739 194110 chr7 131982877 131982877 C T PLXNA4 Synonymous SNV E492E 0.003 0 0 0 3 0 0 0 0 0 0 0 13.37 194111 chr10 101120625 101120625 G A CNNM1 Nonsynonymous SNV R584Q 0 0.013 0 0 0 5 0 0 0 0 0 0 23.9 194112 chr21 46320292 46320292 G A ITGB2 Synonymous SNV T280T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.427 194113 chr2 213872645 213872645 C T rs115182573 IKZF2 Synonymous SNV P265P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.97 194114 chrX 149962196 149962196 C G CD99L2 Nonsynonymous SNV G83A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.28 194115 chr7 139257921 139257921 C T rs751302512 HIPK2 Nonsynonymous SNV V1090M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 194116 chr21 47627462 47627462 G A rs145106003 LSS Synonymous SNV C369C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 194117 chr11 31625373 31625373 C A rs201699595 ELP4 Nonsynonymous SNV P192Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.3 194118 chr2 219221895 219221895 T A rs141560868 CATIP Nonsynonymous SNV F46I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 32 194119 chr21 47810745 47810745 A C PCNT Nonsynonymous SNV Q1216P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.796 194120 chr10 108339146 108339146 C T rs139132974 SORCS1 Nonsynonymous SNV V1118I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 16.05 194121 chr22 18029023 18029023 A G rs373901873 CECR2 Nonsynonymous SNV Y1185C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 194122 chr22 19050752 19050752 - TTCCGGC DGCR2 Frameshift insertion N155Kfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 194123 chr11 35313848 35313848 C G SLC1A2 Synonymous SNV L359L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.775 194124 chr10 112642822 112642822 G A PDCD4 Synonymous SNV V122V 0 0.008 0 0 0 3 0 0 0 0 0 0 8.841 194125 chr7 150174381 150174381 A G GIMAP8 Nonsynonymous SNV E504G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.351 194126 chr11 108181014 108181014 A G rs201963507 ATM Nonsynonymous SNV K1964E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.81 194127 chr10 116050080 116050080 G A rs142603181 VWA2 Nonsynonymous SNV R735H 0.002 0.01 0 0 2 4 0 0 0 0 0 0 22 194128 chr10 117075121 117075121 A G ATRNL1 Nonsynonymous SNV H971R 0.002 0.01 0 0 2 4 0 0 0 0 0 0 11.23 194129 chr13 108862472 108862473 AG - LIG4 L382Efs*5 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 194130 chr7 150700483 150700483 C T rs143125350 NOS3 Stop gain R613X 0.001 0 0 0 1 0 0 0 0 0 0 0 1.786 194131 chr7 150878055 150878055 C T rs201566253 ASB10 Nonsynonymous SNV V359I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 194132 chr2 230914556 230914556 G A rs139923489 SLC16A14 Synonymous SNV L108L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 194133 chr10 121685624 121685624 A G rs758453539 SEC23IP Nonsynonymous SNV K733R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.71 194134 chr11 113233186 113233186 C T rs201244916 TTC12 Stop gain R535X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 34 194135 chr2 232325527 232325527 C T rs764273926 NCL Nonsynonymous SNV A222T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 194136 chr2 233351300 233351300 G T rs867657179 ECEL1 Nonsynonymous SNV R22S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 194137 chr11 11373847 11373847 C A rs567625743 CSNK2A3 Nonsynonymous SNV G274C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 194138 chrX 69282692 69282692 G A rs765977382 OTUD6A Synonymous SNV R106R 0.003 0 0 2 4 0 0.005 0 0 0 0 1 0.412 194139 chr11 118257302 118257302 C T rs35460113 UBE4A Synonymous SNV I854I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 17.98 194140 chr22 26351296 26351296 G A rs542324409 MYO18B Nonsynonymous SNV R2042Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 194141 chr2 234731629 234731629 C T rs527368466 MROH2A Synonymous SNV G1323G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 194142 chr11 118263608 118263608 C T rs61760195 UBE4A Synonymous SNV L1024L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.85 194143 chr11 118374445 118374445 G C rs782440708 KMT2A Nonsynonymous SNV G2613A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 194144 chr22 30412685 30412685 G A rs769743475 MTMR3 Nonsynonymous SNV A558T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 194145 chr2 239009282 239009282 G A rs768422822 ESPNL Synonymous SNV A74A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.34 194146 chr10 131964855 131964855 G A rs777129463 GLRX3 Nonsynonymous SNV R188Q 0.001 0.01 0 0 1 4 0 0 0 0 0 0 34 194147 chr22 32200838 32200838 G A rs368032858 DEPDC5 Nonsynonymous SNV R357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 194148 chr2 241829542 241829542 C T rs141159662 MAB21L4 Synonymous SNV L258L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.989 194149 chr2 241869627 241869627 G A rs371276181 CROCC2 Synonymous SNV L230L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.415 194150 chr10 134219040 134219040 G A rs200902054 PWWP2B Nonsynonymous SNV E346K 0 0.01 0 0 0 4 0 0 0 0 0 0 11.75 194151 chr2 241889000 241889000 C T rs761772189 CROCC2 Nonsynonymous SNV R845W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.7 194152 chr2 241903115 241903115 G A rs374817384 CROCC2 Nonsynonymous SNV R1077H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 194153 chr2 241903126 241903126 G A rs368925186 CROCC2 Nonsynonymous SNV V1081I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.195 194154 chr2 242004354 242004354 G A rs75497441 SNED1 Synonymous SNV T898T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.39 194155 chr22 36900186 36900186 G C rs146608926 FOXRED2 Nonsynonymous SNV I336M 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 25.3 194156 chr11 123886648 123886648 T C rs397832341 OR10G4 Synonymous SNV L123L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.403 194157 chr22 37906309 37906326 CTCCTTCTCCTTCTCCTT - rs764267670 CARD10 K268_E273del 0.001 0 0 0 1 0 0 0 0 0 0 0 194158 chr22 38150919 38150919 G A rs751311447 TRIOBP Synonymous SNV S92S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.167 194159 chr22 39222562 39222562 G A rs759385529 NPTXR Synonymous SNV N347N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 194160 chr2 29148008 29148008 A G rs190364212 WDR43 Nonsynonymous SNV I359V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 194161 chr2 29754946 29754946 T C rs781677582 ALK Nonsynonymous SNV K330R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 194162 chr2 38302029 38302029 C T rs200724605 CYP1B1 Nonsynonymous SNV G168D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.3 194163 chr7 48314347 48314347 A G ABCA13 Nonsynonymous SNV N1695S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 23.7 194164 chr2 43927221 43927221 G C rs145148620 PLEKHH2 Nonsynonymous SNV S375T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.073 194165 chr22 45132731 45132731 G A rs145508795 PRR5 Synonymous SNV T162T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 194166 chr22 45221459 45221459 C T rs770956991 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV G194G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 194167 chr9 138392948 138392949 CG - rs763141502 MRPS2 E51Vfs*14 0.002 0 0 0 2 0 0 0 0 0 0 0 194168 chr10 127527697 127527697 T G rs371698020 DHX32 Nonsynonymous SNV D585A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 194169 chr2 54081660 54081660 G C rs72799238 GPR75 Nonsynonymous SNV N78K 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 22.5 194170 chr11 17801127 17801127 C A KCNC1 Stop gain Y543X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 194171 chr2 54125449 54125449 C T rs113742132 PSME4 Synonymous SNV E1155E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 194172 chr22 46724731 46724731 C G rs139642618 GTSE1 Nonsynonymous SNV A624G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.506 194173 chr5 156635928 156635928 A G ITK Nonsynonymous SNV E56G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 194174 chr22 47193426 47193426 C A TBC1D22A Synonymous SNV P135P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.02 194175 chr11 2338650 2338650 G A rs770684289 TSPAN32 Nonsynonymous SNV E266K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.988 194176 chr7 75611634 75611634 A G rs201697814 POR Nonsynonymous SNV Q275R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 194177 chr7 75694182 75694182 A G rs782760951 MDH2 Nonsynonymous SNV M224V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 194178 chr5 16666843 16666843 G A rs559745704 MYO10 Synonymous SNV Y2045Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.341 194179 chr7 75912095 75912095 C T SRRM3 Synonymous SNV S500S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 194180 chr22 50728292 50728292 C T rs201878905 PLXNB2 Nonsynonymous SNV R241Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.135 194181 chr2 74274540 74274540 C T rs200362611 TET3 Nonsynonymous SNV P406L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.296 194182 chr2 74907167 74907167 A G rs146839395 SEMA4F Nonsynonymous SNV D560G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 194183 chr2 75105998 75105998 G T HK2 Synonymous SNV R405R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.073 194184 chrX 9863257 9863257 C T rs112628472 SHROOM2 Nonsynonymous SNV P437S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.131 194185 chrX 9863290 9863290 G A rs147084526 SHROOM2 Nonsynonymous SNV G448R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 194186 chrX 9866265 9866265 C A rs16985780 SHROOM2 Nonsynonymous SNV D942E 0.001 0 0 0 1 0 0 0 0 0 0 0 15 194187 chrX 9866298 9866298 A G rs16985782 SHROOM2 Synonymous SNV A953A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.391 194188 chrX 13626489 13626489 C T rs758105635 EGFL6 Synonymous SNV A234A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 194189 chr11 58979817 58979817 T C MPEG1 Synonymous SNV E174E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 194190 chr10 69571327 69571327 C G rs202186686 DNAJC12 Synonymous SNV S84S 0.003 0.013 0 0 3 5 0 0 0 0 0 0 13.28 194191 chr2 96993816 96993816 C T rs539218080 ITPRIPL1 Nonsynonymous SNV R491C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 194192 chr10 70446288 70446288 A G TET1 Nonsynonymous SNV K1743R 0 0.01 0 0 0 4 0 0 0 0 0 0 10.1 194193 chr5 179331753 179331753 G C rs1037221492 TBC1D9B Nonsynonymous SNV R60G 0 0 0 2 0 0 0.005 0 0 0 0 0 32 194194 chr5 179331775 179331775 G A rs772782138 TBC1D9B Synonymous SNV S52S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.14 194195 chr3 100617629 100617629 C T rs199787233 ABI3BP Synonymous SNV L153L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.14 194196 chr11 47521042 47521042 T C rs1055675060 CELF1 Nonsynonymous SNV M12V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.14 194197 chrX 49063542 49063542 G A rs782547405 CACNA1F Nonsynonymous SNV P1719S 0.001 0 0 2 1 0 0.005 0 0 0 0 1 17.9 194198 chrX 50378637 50378637 G A rs189694750 SHROOM4 Nonsynonymous SNV R146W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 194199 chr5 32774872 32774872 A C NPR3 Nonsynonymous SNV H116P 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 23.1 194200 chr10 73590904 73590904 C G rs759556759 PSAP Synonymous SNV L118L 0 0.008 0 0 0 3 0 0 0 0 0 0 14.46 194201 chr10 73590921 73590921 A C rs762050153 PSAP Nonsynonymous SNV Y113D 0 0.008 0 0 0 3 0 0 0 0 0 0 27.6 194202 chrX 64949500 64949500 G C MSN Nonsynonymous SNV Q131H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 194203 chrX 65242157 65242157 G A rs41307375 VSIG4 Nonsynonymous SNV T289I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.15 194204 chrX 65253454 65253454 C A rs41306131 VSIG4 Nonsynonymous SNV V92F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.95 194205 chr3 113187080 113187080 C T rs376071843 SPICE1 Nonsynonymous SNV R354H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 194206 chrX 70887932 70887932 C T rs780835408 LOC101059915 Synonymous SNV D93D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.086 194207 chrX 70889451 70889451 C G LOC101059915 Nonsynonymous SNV R427G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.252 194208 chr11 6292522 6292522 C T rs778076555 CCKBR Stop gain R281X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 194209 chr10 79593783 79593783 T A rs540438419 DLG5 Nonsynonymous SNV N546I 0 0.01 0 0 0 4 0 0 0 0 0 0 25.4 194210 chr9 72082835 72082835 G A rs141287424 APBA1 Synonymous SNV A462A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 194211 chr3 119344007 119344007 T C rs199604659 PLA1A Nonsynonymous SNV L177P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.727 194212 chrX 77388876 77388876 G A TAF9B Nonsynonymous SNV T184M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 194213 chr11 64066954 64066954 C T rs761408425 KCNK4 Nonsynonymous SNV P313L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 194214 chr10 88681340 88681340 C G BMPR1A Synonymous SNV P410P 0.003 0.016 0 0 4 6 0 0 0 0 0 0 Likely benign 16.36 194215 chrX 100744752 100744752 T C ARMCX4 Synonymous SNV T392T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.226 194216 chr5 491953 491953 C T rs139970401 SLC9A3 Nonsynonymous SNV V149M 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 194217 chr11 64335087 64335087 T C rs901187627 SLC22A11 Nonsynonymous SNV S359P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.248 194218 chrX 102335128 102335128 G A rs758865015 NXF3 Nonsynonymous SNV P315L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.823 194219 chr9 79461537 79461537 G A rs553816550 PRUNE2 Synonymous SNV S134S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.458 194220 chrX 106229215 106229215 T C rs748784874 MORC4 Nonsynonymous SNV N175S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.188 194221 chr10 93579279 93579279 T C rs149386270 TNKS2 Synonymous SNV L200L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 8.056 194222 chr10 93999905 93999905 G A CPEB3 Nonsynonymous SNV P68L 0 0.013 0 0 0 5 0 0 0 0 0 0 23.1 194223 chr3 126185004 126185004 G A rs759065274 ZXDC Nonsynonymous SNV R479C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 194224 chr3 129123129 129123129 C T rs199684655 EFCAB12 Nonsynonymous SNV R456Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.706 194225 chrX 135960119 135960119 C T rs76812369 RBMX Nonsynonymous SNV G115R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 194226 chr3 130158438 130158438 C T rs182112053 COL6A5 Nonsynonymous SNV R1936W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.39 194227 chr3 132222154 132222154 A G rs116322000 DNAJC13 Nonsynonymous SNV I1605V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.081 194228 chr11 66332239 66332239 C T rs375891471 CTSF Nonsynonymous SNV V402M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 194229 chrX 154305495 154305495 T C BRCC3 Synonymous SNV R82R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.503 194230 chr1 949488 949488 A G rs757512813 ISG15 Nonsynonymous SNV Q43R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 194231 chr1 980562 980562 C T AGRN Nonsynonymous SNV P759L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.23 194232 chr11 71184679 71184679 G A rs201054095 NADSYN1 Nonsynonymous SNV V205M 0 0.003 0 0 0 1 0 0 0 0 0 0 16 194233 chr3 150588837 150588837 A G rs141758998 MINDY4B Nonsynonymous SNV F460L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.814 194234 chr3 150881742 150881742 C T rs1002344651 MED12L Synonymous SNV S390S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 194235 chr1 1689964 1689964 G A rs768494539 NADK Nonsynonymous SNV R3W 0 0 0 1 0 0 0.003 0 0 0 0 0 3.523 194236 chr3 157318043 157318043 T G SLC66A1L Nonsynonymous SNV L92W 0 0 0.003 0 0 0 0 1 0 0 0 0 4.642 194237 chr6 101098474 101098474 A G rs113106007 ASCC3 Synonymous SNV Y1064Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 194238 chr11 108031666 108031666 G A rs745467845 NPAT Nonsynonymous SNV R1390C 0.001 0.01 0 0 1 4 0 0 0 0 0 0 33 194239 chr11 1095352 1095352 C G MUC2 Nonsynonymous SNV Q2058E 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 8.72 194240 chr3 16926561 16926561 C A PLCL2 0 0 0.007 0 0 0 0 2 0 0 1 0 16.86 194241 chr3 16926562 16926562 T C PLCL2 0 0 0.007 0 0 0 0 2 0 0 1 0 13.43 194242 chr1 5926503 5926503 G A rs139022622 NPHP4 Nonsynonymous SNV R680W 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Likely benign 26.1 194243 chr6 110726057 110726057 T C rs74655050 DDO Synonymous SNV K126K 0 0.003 0 4 0 1 0.01 0 0 0 0 0 5.935 194244 chr15 23891689 23891689 C T rs1020460740 MAGEL2 Nonsynonymous SNV V401I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.458 194245 chr11 5632495 5632495 T C TRIM6 Nonsynonymous SNV F289L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 194246 chr1 9078420 9078420 C T rs763788550 SLC2A7 Nonsynonymous SNV A151T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 194247 chr8 23294571 23294571 T C rs142918666 ENTPD4 Nonsynonymous SNV Y409C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 194248 chr11 118900051 118900051 C T rs782500443 SLC37A4 Nonsynonymous SNV R10H 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Uncertain significance 31 194249 chr11 93462678 93462678 C G CEP295 Nonsynonymous SNV P2461A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.294 194250 chr11 93463110 93463110 G C CEP295 Nonsynonymous SNV A2548P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.81 194251 chr1 12337050 12337050 T C rs776452169 VPS13D Synonymous SNV D1135D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 194252 chr6 132945354 132945354 C - rs773135028 TAAR2 0.002 0 0 2 2 0 0.005 0 0 0 0 0 194253 chr11 5809704 5809704 C G OR52N1 Nonsynonymous SNV G115R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 194254 chr11 93806252 93806252 C T rs115754994 HEPHL1 Nonsynonymous SNV R432W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 194255 chr11 9534103 9534103 G A rs148786361 ZNF143 Nonsynonymous SNV S464N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23.7 194256 chr1 15438830 15438835 TGTGTG - TMEM51-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 194257 chr11 5878576 5878576 A G rs139706671 OR52E8 Synonymous SNV I119I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 194258 chr3 19554508 19554508 T C rs138374380 KCNH8 Nonsynonymous SNV I709T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 26.6 194259 chr1 16258318 16258318 A G rs752391779 SPEN Synonymous SNV E1861E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.776 194260 chr11 60157009 60157009 G A rs576327812 MS4A7 Synonymous SNV S117S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.21 194261 chr11 62389376 62389376 A G rs751133434 B3GAT3 Nonsynonymous SNV V15A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.12 194262 chr3 3133900 3133900 C T rs760512510 IL5RA Synonymous SNV X334X 0 0 0.003 0 0 0 0 1 0 0 0 0 4.092 194263 chr12 105467752 105467752 A C ALDH1L2 Nonsynonymous SNV L27R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 194264 chr11 60703342 60703342 G A TMEM132A Nonsynonymous SNV A680T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 194265 chr15 49663548 49663548 G A rs538375897 FAM227B Nonsynonymous SNV T354M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.746 194266 chr11 125514111 125514111 C G CHEK1 Nonsynonymous SNV P366R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 194267 chr1 21011373 21011373 G A rs200435612 KIF17 Synonymous SNV S720S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.145 194268 chr11 61730295 61730295 G A rs147192139 BEST1 Nonsynonymous SNV E470K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.58 194269 chr11 64525334 64525334 C A rs77656150 PYGM Nonsynonymous SNV A105S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 25.6 194270 chr11 61914250 61914264 GAGCAGGAGCGGCGC - rs760205809 INCENP R709_R713del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 194271 chr1 22182056 22182056 G A rs371213672 HSPG2 Synonymous SNV S1939S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.84 194272 chr11 64701295 64701295 C T rs185359743 PPP2R5B Synonymous SNV A491A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.12 194273 chr11 62652810 62652810 A G rs754400157 SLC3A2 Nonsynonymous SNV N327S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 194274 chr12 112605196 112605196 G A rs138669566 HECTD4 Synonymous SNV G4163G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.43 194275 chr8 8750078 8750078 T G MFHAS1 Nonsynonymous SNV D164A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 194276 chr1 26517215 26517215 G A rs147160883 CATSPER4 Nonsynonymous SNV G33R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 194277 chr3 45801472 45801472 G C SLC6A20 Nonsynonymous SNV S465R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 194278 chr15 68612714 68612714 C T rs201394529 ITGA11 Nonsynonymous SNV V809M 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 194279 chr12 121131922 121131922 C T rs377552799 MLEC Synonymous SNV I5I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.35 194280 chr3 4735407 4735407 C T rs61757110 ITPR1 Synonymous SNV H1406H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 194281 chr11 1856652 1856652 G C rs758527595 SYT8 Nonsynonymous SNV G89A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.52 194282 chr11 1858020 1858020 G A rs75258793 SYT8 Nonsynonymous SNV R255Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.78 194283 chr11 65299135 65299135 G A rs764376000 SCYL1 Nonsynonymous SNV R366H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 194284 chr11 65306894 65306894 C A rs375173614 LTBP3 Nonsynonymous SNV R1058L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 25.8 194285 chr1 31212761 31212761 G A rs777020746 LAPTM5 Synonymous SNV P94P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 194286 chr1 31346127 31346127 C T rs776661461 SDC3 Synonymous SNV T420T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.56 194287 chr15 74467621 74467621 C G rs758070909 ISLR Nonsynonymous SNV A141G 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 194288 chr11 124910588 124910588 G A rs371168732 CCDC15 Nonsynonymous SNV R946Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 194289 chr12 12334029 12334029 T C LRP6 Nonsynonymous SNV I441V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.79 194290 chr6 26368911 26368911 A G rs1043788024 BTN3A2 Synonymous SNV V68V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.211 194291 chr6 26373201 26373201 C T rs144393024 BTN3A2 Synonymous SNV A264A 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 11.25 194292 chr3 50289838 50289838 C T rs138495790 GNAI2 Synonymous SNV H20H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.74 194293 chr3 50513553 50513553 C T rs149979955 CACNA2D2 Nonsynonymous SNV R95H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28.3 194294 chr1 36215350 36215350 T C rs760995181 CLSPN Synonymous SNV K633K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.719 194295 chr1 36565748 36565748 G A rs369481166 COL8A2 Synonymous SNV A32A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.135 194296 chr1 36788213 36788213 C T EVA1B Nonsynonymous SNV G61S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.41 194297 chr11 22646984 22646984 C T rs61752920 FANCF Nonsynonymous SNV D125N 0.003 0.013 0.003 0 4 5 0 1 1 0 0 0 Benign/Likely benign 11.35 194298 chr10 22675692 22675692 A G SPAG6 Nonsynonymous SNV Q139R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 194299 chr11 73076727 73076727 G A rs138072913 ARHGEF17 Synonymous SNV S1910S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.53 194300 chr11 2688386 2688386 T C rs375560125 KCNQ1OT1 0 0.01 0 1 0 4 0.003 0 0 0 0 0 3.122 194301 chr1 40954809 40954809 G T rs758202634 ZFP69 Nonsynonymous SNV W90L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 194302 chr1 40961133 40961133 A T rs144613252 ZFP69 Nonsynonymous SNV E329V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.8 194303 chr11 67201871 67201871 G A rs917920884 RPS6KB2 Synonymous SNV Q357Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.868 194304 chr12 129360484 129360484 G A rs113674717 GLT1D1 Nonsynonymous SNV V32M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.95 194305 chr3 56601067 56601067 G A rs149475199 CCDC66 Stop gain W234X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 38 194306 chr12 131620650 131620650 C T rs61746588 ADGRD1 Nonsynonymous SNV A779V 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 22.4 194307 chr6 33693314 33693314 G A rs756011776 IP6K3 Synonymous SNV H223H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 7.117 194308 chr3 59908137 59908137 C T rs202183587 FHIT Nonsynonymous SNV V39I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.2 194309 chr3 67578624 67578624 C T rs13318110 SUCLG2 Nonsynonymous SNV A117T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 23.8 194310 chr1 45266530 45266530 T C rs373295341 PLK3 Nonsynonymous SNV Y77H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 194311 chr1 45980639 45980639 G A rs144310103 PRDX1 Synonymous SNV L97L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 12.08 194312 chr3 85851336 85851336 C T rs370453702 CADM2 Synonymous SNV D67D 0 0 0.003 0 0 0 0 1 0 0 0 0 13 194313 chr15 89858542 89858542 C T rs34557339 FANCI Synonymous SNV S1222S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 16.58 194314 chr1 46496343 46496343 G A rs187418587 MAST2 Nonsynonymous SNV R873H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 194315 chr3 9486918 9486918 A G rs894184095 SETD5 Synonymous SNV S458S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.192 194316 chr11 71941230 71941230 C T rs149496279 INPPL1 Synonymous SNV S335S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 194317 chr11 73022699 73022699 G A rs750611402 ARHGEF17 Nonsynonymous SNV V1006I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 194318 chr11 46369302 46369302 C G rs781738735 DGKZ Synonymous SNV P31P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.72 194319 chr11 74618208 74618208 C T rs201475280 XRRA1 Nonsynonymous SNV S15N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 194320 chr6 42937419 42937419 G A rs762734034 PEX6 Nonsynonymous SNV R452C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 28.4 194321 chr6 43410860 43410860 G A rs201247634 ABCC10 Synonymous SNV A765A 0.003 0 0 3 4 0 0.008 0 0 0 0 0 11.78 194322 chr6 43516126 43516126 C T rs747169486 XPO5 Synonymous SNV E644E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.94 194323 chr9 130506906 130506906 C T rs2233513 SH2D3C Synonymous SNV K421K 0.012 0.005 0.014 8 14 2 0.021 4 0 0 0 0 Benign 15.23 194324 chr4 103971481 103971481 C G rs138567331 SLC9B2 Nonsynonymous SNV Q110H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 1.77 194325 chr1 55524304 55524304 G A rs139669564 PCSK9 Nonsynonymous SNV R496Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.85 194326 chr11 3115028 3115028 G A rs768403377 OSBPL5 Nonsynonymous SNV S518L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.8 194327 chr9 131708259 131708259 C T rs143641133 DOLK Nonsynonymous SNV A442T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.3 194328 chr11 7949426 7949426 G C rs769757022 OR10A6 Nonsynonymous SNV P262A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 194329 chr12 4409090 4409090 G A rs142170178 CCND2 Nonsynonymous SNV R262H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 23 194330 chr11 8118307 8118307 A G rs369363661 TUB Nonsynonymous SNV N214S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 194331 chr4 113469533 113469533 G A rs576796914 ZGRF1 Stop gain R1726X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 194332 chr4 113569540 113569543 ACTT - rs199971565 MIR302C 0 0 0.027 0 0 0 0 8 0 0 0 0 194333 chr12 48250976 48250976 T A rs199620286 VDR Nonsynonymous SNV R173S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.003 194334 chr4 121958400 121958400 T C rs35221177 NDNF Synonymous SNV K242K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.383 194335 chr11 8724191 8724191 A G rs113126215 DENND2B Nonsynonymous SNV V463A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 194336 chr11 490526 490526 G A rs140991730 PTDSS2 Nonsynonymous SNV E261K 0.002 0.008 0 0 2 3 0 0 0 0 0 0 22.4 194337 chr9 135273597 135273597 C G rs61746239 TTF1 Nonsynonymous SNV D55H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 9.567 194338 chr9 135374815 135374815 C A rs147812685 CFAP77 Synonymous SNV R118R 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 194339 chr9 135374927 135374927 G A rs61741437 CFAP77 Nonsynonymous SNV R155Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.5 194340 chr12 49420965 49420965 G A rs377379500 KMT2D Synonymous SNV P4928P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.034 194341 chr9 135771682 135771682 C T rs140352085 TSC1 Synonymous SNV P1094P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 14.37 194342 chr12 50186597 50186597 G T NCKAP5L Synonymous SNV R1171R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.02 194343 chr12 50344683 50344683 G A rs200706192 AQP2 Nonsynonymous SNV V24I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 194344 chr4 143081590 143081590 C A rs776931377 INPP4B Nonsynonymous SNV S495I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 194345 chr4 148968172 148968172 G A rs144604709 ARHGAP10 Nonsynonymous SNV G666E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.136 194346 chr11 99715891 99715891 T G rs61749255 CNTN5 Nonsynonymous SNV I84M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.1 194347 chr4 153896355 153896355 C T rs778658082 FHDC1 Nonsynonymous SNV R638W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 194348 chr12 113664624 113664624 A C rs142521727 TPCN1 Synonymous SNV G61G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.005 194349 chr12 101693768 101693768 A G rs764027603 UTP20 Nonsynonymous SNV K535R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 194350 chr12 52995043 52995043 C T KRT72 Nonsynonymous SNV R65Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 194351 chr12 120763720 120763720 G A rs143619918 PLA2G1B Synonymous SNV N46N 0.003 0 0 0 3 0 0 0 0 0 0 0 11.56 194352 chr4 15937691 15937691 T C rs775089418 FGFBP1 Nonsynonymous SNV T189A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 194353 chr11 56019853 56019853 C T rs761098861 OR5T3 Synonymous SNV L60L 0 0.01 0 0 0 4 0 0 0 0 0 0 5.947 194354 chr12 53452181 53452181 G A rs552603857 TNS2 Nonsynonymous SNV G403R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.9 194355 chr12 53453189 53453189 C T TNS2 Synonymous SNV L598L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.97 194356 chr1 108116792 108116792 G A rs55703522 VAV3 Synonymous SNV A233A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.87 194357 chr4 175898915 175898934 CCTTCCCAGAGTCATCCTCA - rs765357200 ADAM29 P747Gfs*106 0 0 0.014 0 0 0 0 4 0 0 0 0 194358 chr4 175899074 175899074 - TGCCTTCC ADAM29 Frameshift insertion T800Mfs*12 0 0.003 0.003 0 0 1 0 1 0 0 0 0 194359 chr4 175899076 175899076 - GAGTCATCCTCAGTTGACGCCTTCCCAGAGTCAACCTCCTGTGACT ADAM29 Frameshift insertion P801Efs*74 0 0 0.003 0 0 0 0 1 0 0 0 0 194360 chr4 184931632 184931632 G A rs772638081 STOX2 Synonymous SNV S547S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.009 194361 chr12 113436075 113436075 G A rs200414201 OAS2 Nonsynonymous SNV V290I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.548 194362 chr1 112308915 112308916 TG - rs761039850 DDX20 V624Efs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 194363 chr4 186329458 186329458 C T rs147970664 UFSP2 Synonymous SNV E321E 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 Benign 14.95 194364 chr4 186544316 186544316 G A rs144923775 SORBS2 Nonsynonymous SNV P656L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 194365 chr1 116941932 116941932 T C rs186049733 ATP1A1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.374 194366 chr12 122260728 122260728 C A rs201048316 SETD1B Nonsynonymous SNV P1415T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 194367 chr12 123341637 123341637 C T rs140743610 HIP1R Nonsynonymous SNV R564W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 194368 chr1 145562757 145562757 C T rs587595526 ANKRD35 Synonymous SNV Y725Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.563 194369 chr1 150972959 150972959 A T rs140386498 MINDY1 Nonsynonymous SNV Y95N 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 28.5 194370 chr4 37591966 37591966 G A rs35633618 C4orf19 Nonsynonymous SNV G97S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 194371 chr12 26275347 26275347 C T rs746215715 BHLHE41 Synonymous SNV L367L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 194372 chr12 7457046 7457046 C T ACSM4 Nonsynonymous SNV A40V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 194373 chr12 81101832 81101832 G T rs28928909 MYF6 Nonsynonymous SNV A112S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.4 194374 chr12 42499859 42499859 C A GXYLT1 Stop gain E178X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 194375 chr4 57377442 57377442 G C rs573645658 ARL9 Nonsynonymous SNV S124T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 194376 chr1 156252415 156252415 G A SMG5 Synonymous SNV H19H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.427 194377 chr7 129825131 129825131 T C TMEM209 Synonymous SNV Q284Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.734 194378 chr7 133979777 133979777 G A rs199959142 SLC35B4 Synonymous SNV T268T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.59 194379 chrX 109697659 109697659 A G RTL9 Nonsynonymous SNV T1272A 0.003 0 0 0 3 0 0 0 1 0 0 0 22.5 194380 chr12 96900715 96900715 T G rs558128704 CFAP54 Nonsynonymous SNV L193V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.9 194381 chr1 157803108 157803108 C T rs151280062 CD5L Nonsynonymous SNV V305I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.74 194382 chr4 73935268 73935268 G C rs552248026 COX18 Nonsynonymous SNV P70R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.546 194383 chr11 118963869 118963869 G A rs150428209 HMBS Nonsynonymous SNV R281H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.28 194384 chr4 774746 774746 A C rs575471718 LOC100129917 0 0 0.007 0 0 0 0 2 0 0 0 0 3.596 194385 chr1 159750980 159750980 C - DUSP23 L31Cfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 194386 chr12 39979971 39979971 A T rs201982720 ABCD2 Nonsynonymous SNV I592K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 194387 chr12 44148460 44148460 C A rs80277889 PUS7L Nonsynonymous SNV V197L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 194388 chr7 148947876 148947876 C G rs374109488 ZNF212 Nonsynonymous SNV N173K 0 0 0 3 0 0 0.008 0 0 0 0 0 29.9 194389 chr4 87749218 87749218 C T rs777581552 SLC10A6 Nonsynonymous SNV S230N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 194390 chr13 19751483 19751483 G A rs962584103 TUBA3C Nonsynonymous SNV R214W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 194391 chr7 150104736 150104736 G A LOC728743 0 0 0 3 0 0 0.008 0 0 0 0 0 9.941 194392 chr7 150104768 150104768 G A LOC728743 0 0 0 3 0 0 0.008 0 0 0 0 0 1.482 194393 chr1 169930203 169930203 G A rs141743224 KIFAP3 Synonymous SNV D675D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.252 194394 chrX 41055921 41055921 A G rs369178019 USP9X Nonsynonymous SNV N1388S 0.004 0 0 0 5 0 0 0 1 0 0 0 Uncertain significance 23.1 194395 chrX 47062132 47062132 G A rs782140095 UBA1 Synonymous SNV R384R 0.008 0.003 0.003 0 9 1 0 1 2 0 0 0 4.856 194396 chr13 25030615 25030615 C A rs139822298 PARP4 Nonsynonymous SNV R809L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 194397 chr11 67401752 67401752 C T rs769289032 TBX10 Nonsynonymous SNV D153N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.6 194398 chr12 53900979 53900979 A G rs756426082 NPFF Nonsynonymous SNV L20S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.49 194399 chrX 67942275 67942275 C T STARD8 Synonymous SNV D782D 0.003 0 0 0 3 0 0 0 1 0 0 0 11.15 194400 chr7 156556482 156556482 C T rs201739279 LMBR1 Nonsynonymous SNV R51Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24 194401 chr1 179834144 179834144 A G TOR1AIP2 Synonymous SNV N56N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.687 194402 chr11 68847332 68847332 C T rs145186935 TPCN2 Stop gain R524X 0 0.008 0 0 0 3 0 0 0 0 0 0 39 194403 chr13 32760419 32760419 C T rs200217642 FRY Synonymous SNV F1114F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 194404 chr12 521017 521017 G A rs200513629 CCDC77 Nonsynonymous SNV R16H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 194405 chr12 56554044 56554046 GAA - rs774256464 MYL6 E124del 0.002 0 0 0 2 0 0 0 0 0 0 0 194406 chr1 183184663 183184663 G A rs17481405 LAMC2 Nonsynonymous SNV R115Q 0.001 0.003 0.02 1 1 1 0.003 6 0 0 0 0 Benign 23.1 194407 chr12 57006016 57006016 G T BAZ2A Nonsynonymous SNV L384M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 194408 chr5 131054691 131054691 C T rs143334697 FNIP1 Nonsynonymous SNV G128E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 194409 chr5 134023963 134023963 A G rs201406828 SEC24A Nonsynonymous SNV Q566R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 194410 chr5 137143938 137143938 C T rs199892028 NPY6R 0 0 0.007 0 0 0 0 2 0 0 0 0 8.606 194411 chr1 201356107 201356107 T C LAD1 Nonsynonymous SNV T128A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 194412 chr1 202568358 202568358 G C SYT2 Nonsynonymous SNV F347L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.424 194413 chr11 7064670 7064670 G A rs760859561 NLRP14 Synonymous SNV E471E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.238 194414 chr1 3703827 3703827 A G rs41301965 LRRC47 Synonymous SNV L221L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.45 194415 chr11 85988111 85988111 T C rs766204145 EED Synonymous SNV I272I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.711 194416 chr11 862726 862726 G A rs778563274 TSPAN4 Synonymous SNV K80K 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.82 194417 chr5 141694394 141694394 C T rs767664986 SPRY4 Nonsynonymous SNV G94R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 194418 chr1 207108853 207108853 G A rs758773171 PIGR Synonymous SNV T452T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.8 194419 chr1 207109105 207109105 G A rs758129098 PIGR Synonymous SNV A368A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.31 194420 chr5 145197513 145197513 C T rs777844292 PRELID2 Synonymous SNV Q104Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.579 194421 chr1 11128109 11128109 C T rs142585370 EXOSC10 Synonymous SNV S836S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 194422 chr5 149310596 149310596 G T rs201406216 PDE6A Nonsynonymous SNV Q285K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 17.92 194423 chr12 83290105 83290105 C G rs149708803 TMTC2 Nonsynonymous SNV P143R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.64 194424 chr12 83526090 83526090 C T rs17010635 TMTC2 Synonymous SNV D566D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.01 194425 chr7 47947684 47947684 C T rs150516084 PKD1L1 Synonymous SNV V464V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 5.99 194426 chr1 12820821 12820821 G A rs200686257 C1orf158 Nonsynonymous SNV M136I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 194427 chr12 6601475 6601475 G A rs11380 MRPL51 Nonsynonymous SNV L117F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 194428 chr17 26817784 26817784 C A rs370388514 SLC13A2 Stop gain S194X 0.003 0 0 2 3 0 0.005 0 0 0 0 0 39 194429 chr17 26962120 26962120 G C KIAA0100 Nonsynonymous SNV P686A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.3 194430 chr1 216880743 216880743 C T rs113667822 ESRRG Nonsynonymous SNV G10E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 3.504 194431 chr1 219383858 219383858 A T rs200404813 LYPLAL1 Nonsynonymous SNV M65L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.323 194432 chr5 154292534 154292534 G A rs768061353 GEMIN5 Synonymous SNV A639A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 194433 chr12 7125707 7125707 C T LPCAT3 Nonsynonymous SNV D8N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 194434 chr1 221057757 221057757 G A rs77213368 HLX Nonsynonymous SNV R393Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 194435 chr1 19181023 19181023 G A rs148292629 TAS1R2 Nonsynonymous SNV T314M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 194436 chr5 156770012 156770012 A - rs746234260 FNDC9 L178Pfs*58 0 0 0.003 0 0 0 0 1 0 0 0 0 194437 chr5 158588610 158588610 A G rs759909130 RNF145 Synonymous SNV I460I 0 0 0.007 0 0 0 0 2 0 0 0 0 6.991 194438 chr5 159781802 159781802 C T rs200728172 C1QTNF2 Nonsynonymous SNV G73S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 194439 chr5 162842 162855 CAGCTGGATGGGGC - PLEKHG4B S886Pfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 194440 chr14 23390004 23390005 CT - rs1036923588 PRMT5-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 194441 chr13 103397187 103397187 T C CCDC168 Nonsynonymous SNV K1954E 0.003 0 0 0 3 0 0 0 0 0 0 0 1.74 194442 chr13 103397188 103397188 C T CCDC168 Synonymous SNV Q1953Q 0.003 0 0 0 3 0 0 0 0 0 0 0 5.746 194443 chr1 226923473 226923473 G A rs151260470 ITPKB Nonsynonymous SNV P563S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 194444 chr14 23900881 23900881 G A MYH7 Synonymous SNV T215T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.6 194445 chr5 174151719 174151719 A C MSX2 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 194446 chr12 112630463 112630463 G A rs371304274 HECTD4 Nonsynonymous SNV R3075W 0.002 0.016 0 1 2 6 0.003 0 0 0 0 0 27.1 194447 chr12 8995734 8995734 A G A2ML1 Nonsynonymous SNV K418R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 194448 chr1 23758225 23758225 G A rs758996848 ASAP3 Nonsynonymous SNV T828I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.25 194449 chr5 176335609 176335609 G T UIMC1 Nonsynonymous SNV A588D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 194450 chr14 24601567 24601567 C G rs201136584 FITM1 Synonymous SNV A138A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.051 194451 chr12 11420879 11420941 GTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG - PRB3 P81_G101del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 194452 chr1 228525728 228525728 T C OBSCN Synonymous SNV Y5628Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.027 194453 chr5 178415998 178415998 G A rs148831419 GRM6 Nonsynonymous SNV P431L 0.001 0.01 0.007 2 1 4 0.005 2 0 0 0 0 Uncertain significance 22.4 194454 chr5 179225386 179225386 G A rs17854722 MGAT4B Nonsynonymous SNV L506F 0 0 0.007 0 0 0 0 2 0 0 0 0 11.56 194455 chr1 231472079 231472079 T G rs373203929 EXOC8 Synonymous SNV A471A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.032 194456 chr13 23942556 23942556 T A rs762050333 SACS Synonymous SNV G110G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.619 194457 chr13 23942558 23942558 C T rs766311635 SACS Nonsynonymous SNV G110R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 194458 chr13 24304584 24304584 C T rs150308123 MIPEP Nonsynonymous SNV G682D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.46 194459 chr13 102220153 102220153 C T rs774844386 ITGBL1 Synonymous SNV N47N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.1 194460 chr1 236385257 236385257 T G rs141266103 ERO1B Synonymous SNV G392G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 194461 chr5 21760704 21760704 A G rs111616437 CDH12 Synonymous SNV A308A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.147 194462 chr5 21802485 21802485 C A rs112632478 CDH12 Nonsynonymous SNV E125D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.5 194463 chr12 111731317 111731317 C T rs770668506 CUX2 Synonymous SNV P106P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.28 194464 chr7 99055969 99055969 C T rs144185727 ATP5MF Nonsynonymous SNV R50Q 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23.4 194465 chr12 112187009 112187009 C T ACAD10 Nonsynonymous SNV R893C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 194466 chr5 34004830 34004830 G A AMACR Nonsynonymous SNV S134L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 194467 chr13 108955933 108955933 T C rs77273581 TNFSF13B Synonymous SNV N223N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.284 194468 chr1 35453687 35453687 T C rs754877635 ZMYM6 Nonsynonymous SNV E999G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 194469 chr1 35865101 35865101 A G rs751988902 ZMYM4 Nonsynonymous SNV N827S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.765 194470 chr1 36552839 36552839 C T rs41267269 TEKT2 Nonsynonymous SNV T261M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26 194471 chr1 247322342 247322342 C A rs762712109 ZNF124 Stop gain E62X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 194472 chr5 43492396 43492396 T A rs138845538 C5orf34 Nonsynonymous SNV N501Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 194473 chr1 38265828 38265828 C T rs758750496 MANEAL Nonsynonymous SNV R221C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 194474 chr1 39782993 39782993 G A rs74066738 MACF1 Synonymous SNV E1237E 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 6.723 194475 chr1 39783025 39783025 A T rs62622784 MACF1 Nonsynonymous SNV K1248I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.7 194476 chr1 39878567 39878567 C G rs74066781 KIAA0754 Nonsynonymous SNV P877R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 17.38 194477 chr1 39880013 39880013 T C rs74066782 KIAA0754 Nonsynonymous SNV L1359P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.59 194478 chr1 39908430 39908430 A C rs11206102 MACF1 Synonymous SNV T4324T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.007 194479 chr12 130927141 130927141 G A rs768510767 RIMBP2 Synonymous SNV N235N 0.002 0.01 0 0 2 4 0 0 0 0 0 0 6.224 194480 chr1 39950377 39950377 C T rs72930231 MACF1 Synonymous SNV S5337S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.83 194481 chr12 13103173 13103173 C T rs374734710 GPRC5D Nonsynonymous SNV R49Q 0 0.005 0 0 0 2 0 0 0 0 0 0 22.4 194482 chr12 121756080 121756080 C G ANAPC5 Nonsynonymous SNV Q519H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 32 194483 chr1 248059496 248059496 C T rs149567265 OR2W3 Nonsynonymous SNV A203V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 194484 chr13 23915086 23915086 G A rs146296924 SACS Synonymous SNV L830L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.037 194485 chr1 40980354 40980354 A G EXO5 Synonymous SNV P46P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 194486 chr1 41095007 41095007 C G RIMS3 Nonsynonymous SNV Q170H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 194487 chr12 15035100 15035100 G A MGP Synonymous SNV Y95Y 0.002 0.018 0 0 2 7 0 0 0 0 0 0 1.684 194488 chr5 68492901 68492901 - A rs756360875 CENPH Frameshift insertion N115Kfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 194489 chr12 18891317 18891317 C T rs61912355 CAPZA3 Nonsynonymous SNV R39C 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 29.9 194490 chr14 67850106 67850106 A G rs76855584 EIF2S1 Synonymous SNV E299E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 6.23 194491 chr5 73181878 73181878 C T rs200118164 ARHGEF28 Synonymous SNV L774L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 194492 chr13 33017112 33017112 T A rs201002215 N4BP2L2 Nonsynonymous SNV N506I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.3 194493 chr13 40175003 40175003 C A LHFPL6 Synonymous SNV V117V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.927 194494 chr1 47761481 47761481 C T rs200629269 STIL Synonymous SNV L247L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 194495 chr14 75989077 75989077 C G rs35112650 BATF Nonsynonymous SNV P18A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 194496 chr5 79773128 79773128 G A rs141734751 ZFYVE16 Nonsynonymous SNV G1518R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 194497 chr12 14993483 14993483 T C rs149987225 ART4 Nonsynonymous SNV Y250C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 194498 chr8 142228348 142228348 C T rs762686238 SLC45A4 Nonsynonymous SNV R413Q 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.4 194499 chr1 55074645 55074645 C T rs200711013 ACOT11 Stop gain Q549X 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 194500 chr8 144241052 144241052 G A rs960852900 LY6H Nonsynonymous SNV A26V 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 194501 chr13 77807400 77807400 T C rs373873724 MYCBP2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 194502 chr1 63999138 63999138 A G rs147278933 EFCAB7 Nonsynonymous SNV Y167C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 194503 chr8 144992408 144992408 G C PLEC Nonsynonymous SNV L3847V 0 0 0 4 0 0 0.01 0 0 0 0 0 16.54 194504 chr2 29294099 29294099 C T rs201772623 PCARE Nonsynonymous SNV R1010Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 4.749 194505 chr6 107533406 107533406 C A PDSS2 Nonsynonymous SNV K261N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 194506 chr8 145001652 145001652 G A rs144610086 PLEC Nonsynonymous SNV R1214W 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 23.7 194507 chr2 31215873 31215873 G C rs186635790 GALNT14 Nonsynonymous SNV P44A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.375 194508 chr2 33172852 33172852 G C rs771231641 LTBP1 Nonsynonymous SNV R154T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.78 194509 chr8 145170698 145170698 C T rs568572308 WDR97 Nonsynonymous SNV P1511L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.382 194510 chr2 39008790 39008790 C T rs75091572 GEMIN6 Nonsynonymous SNV T87M 0 0 0 1 0 0 0.003 0 0 0 0 0 4.359 194511 chr8 145699936 145699936 A G rs151147114 FOXH1 Synonymous SNV P261P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 0.017 194512 chr6 125284454 125284454 A G rs532413682 RNF217 Nonsynonymous SNV Y255C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 194513 chr15 39909953 39909953 G A rs71472405 FSIP1 Nonsynonymous SNV P561L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 194514 chr2 55887325 55887325 C T rs146111948 PNPT1 Synonymous SNV G417G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 12.71 194515 chr8 21984770 21984770 G A rs761391119 HR Synonymous SNV R395R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.961 194516 chr6 135360757 135360757 C G rs149787764 HBS1L Nonsynonymous SNV L86F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.4 194517 chr15 41657778 41657778 C T rs201183520 NUSAP1 Nonsynonymous SNV T256M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.576 194518 chr2 69741604 69741604 G A AAK1 Nonsynonymous SNV A592V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 194519 chr6 143074549 143074549 G A rs117019703 HIVEP2 Nonsynonymous SNV L2346F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22 194520 chr6 148865750 148865750 G A rs772707943 SASH1 Synonymous SNV A809A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 194521 chr15 42168329 42168329 C T rs550716512 SPTBN5 Nonsynonymous SNV V1369M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.067 194522 chr1 110038853 110038853 A G rs752673149 CYB561D1 Nonsynonymous SNV Y164C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 194523 chr8 27321384 27321384 G A rs148009259 CHRNA2 Synonymous SNV F192F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.932 194524 chr14 58924555 58924555 A G KIAA0586 Nonsynonymous SNV R341G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 194525 chr15 42437975 42437975 C T rs148529696 PLA2G4F Nonsynonymous SNV C554Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 194526 chr2 74883750 74883750 G A rs139676653 SEMA4F Nonsynonymous SNV V79I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.5 194527 chr2 74906416 74906417 AT - SEMA4F I398Rfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 194528 chr1 111663282 111663282 C A DRAM2 Nonsynonymous SNV A125S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 194529 chr8 27925214 27925214 C T rs75455870 NUGGC Synonymous SNV T176T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 194530 chr1 111860626 111860626 T C rs368843945 CHIA Synonymous SNV H47H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.581 194531 chr15 45405534 45405534 A G DUOX2 0 0.003 0 0 0 1 0 0 0 0 0 0 13.39 194532 chr1 112309110 112309110 G A rs150262623 DDX20 Synonymous SNV T688T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.232 194533 chr1 112533520 112533520 T A LINC01750 0.001 0 0 0 1 0 0 0 0 0 0 0 8.965 194534 chr12 64724801 64724801 T C C12orf56 Nonsynonymous SNV K143E 0 0.005 0 0 0 2 0 0 0 0 0 0 4.423 194535 chr8 30550509 30550509 C T rs750862066 GSR Nonsynonymous SNV V287M 0 0 0 1 0 0 0.003 0 0 0 0 0 24 194536 chr12 64853989 64853989 T C rs202056661 TBK1 Synonymous SNV A36A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 7.834 194537 chr14 23745008 23745008 G A rs201917252 HOMEZ Nonsynonymous SNV R477W 0.007 0 0 1 8 0 0.003 0 0 0 0 0 23 194538 chr8 3141766 3141766 G A rs779320746 CSMD1 Synonymous SNV S1351S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 13.66 194539 chr14 23883097 23883097 C T rs730880727 MYH7 Synonymous SNV E1887E 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign/Likely benign 14.67 194540 chr15 52402010 52402010 T A rs2231295 BCL2L10 Nonsynonymous SNV Q240H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.978 194541 chr15 52416739 52416739 G A rs113335851 GNB5 Synonymous SNV R327R 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 12.89 194542 chr15 52553173 52553173 G A rs75932126 MYO5C Nonsynonymous SNV A400V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 194543 chr2 98409129 98409129 G A rs749575374 TMEM131 Synonymous SNV H1288H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 194544 chr1 145440490 145440490 G C rs781934677 TXNIP Nonsynonymous SNV G211R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 194545 chr1 145562024 145562024 T C rs782510292 ANKRD35 Nonsynonymous SNV L481P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 194546 chr2 99802696 99802696 A G rs370096693 MRPL30 Synonymous SNV Q10Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 194547 chr14 73976155 73976155 C T rs141513108 HEATR4 Synonymous SNV P527P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.34 194548 chr2 101019031 101019031 G A rs1465829 CHST10 Synonymous SNV L63L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.02 194549 chr14 74438559 74438559 C T rs199705274 ENTPD5 Synonymous SNV R360R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.59 194550 chr12 76763563 76763563 G C rs754208290 OSBPL8 Nonsynonymous SNV D673E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 26.8 194551 chr1 151108565 151108565 G A rs201209222 SEMA6C Nonsynonymous SNV T354I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 194552 chr6 170871103 170871103 - CAA rs781781064 TBP Q75_A76insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 194553 chr2 105883929 105883929 T C rs754570591 TGFBRAP1 Nonsynonymous SNV R832G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 194554 chr6 20546745 20546745 C G rs149117757 CDKAL1 Nonsynonymous SNV P55R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.74 194555 chr12 85638570 85638570 A G LRRIQ1 Nonsynonymous SNV R1674G 0 0.005 0 0 0 2 0 0 0 0 0 0 24 194556 chr2 113416545 113416545 C T rs777116177 SLC20A1 Nonsynonymous SNV L308F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.55 194557 chr15 66170157 66170157 A T rs148440353 RAB11A Synonymous SNV T98T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.109 194558 chr2 129076078 129076078 C T rs772728879 HS6ST1 Synonymous SNV L20L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.39 194559 chr2 131103576 131103576 T C rs746400970 IMP4 Nonsynonymous SNV F222L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.083 194560 chr9 101830877 101830877 G A rs141581682 COL15A1 Nonsynonymous SNV G1293D 0.001 0 0 3 1 0 0.008 0 0 0 0 1 25.4 194561 chr6 35425721 35425721 C A rs139600847 FANCE Nonsynonymous SNV P310Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 194562 chr15 81234287 81234287 C G rs16972583 CEMIP Nonsynonymous SNV P1169A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 194563 chr15 81633839 81633839 G A TMC3 Nonsynonymous SNV P579L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 194564 chr1 158615321 158615321 G A rs186415745 SPTA1 Synonymous SNV D1320D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.62 194565 chr13 113536219 113536219 G A rs200373468 ATP11A Synonymous SNV S1139S 0 0.008 0 0 0 3 0 0 0 0 0 0 8.513 194566 chr15 26793246 26793246 C A rs748883701 GABRB3 Synonymous SNV L287L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.64 194567 chr6 41001851 41001851 G A rs753447230 UNC5CL Nonsynonymous SNV S152L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.991 194568 chr15 89169909 89169909 C T rs148606540 AEN Nonsynonymous SNV R157C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 194569 chr6 42641554 42641554 G C rs151085727 UBR2 Nonsynonymous SNV R1371T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 194570 chr12 93226519 93226519 T C rs200457532 EEA1 Synonymous SNV Q341Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.006 194571 chr12 95434294 95434294 G A NR2C1 Nonsynonymous SNV S404L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 194572 chr2 161029146 161029146 G A rs754214308 ITGB6 Synonymous SNV I190I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 16.44 194573 chr2 165551638 165551638 T C rs73013650 COBLL1 Nonsynonymous SNV Y755C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.643 194574 chr15 40628006 40628008 CTT - rs577528236 CCDC9B K347del 0.002 0 0 0 2 0 0 0 0 0 0 0 194575 chr9 124091256 124091256 G T rs9696578 GSN Nonsynonymous SNV R668L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 34 194576 chr9 124110368 124110368 C T rs115702601 STOM Synonymous SNV K195K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.99 194577 chr1 169096576 169096576 C G rs751890173 ATP1B1 Nonsynonymous SNV T166S 0.003 0 0 0 3 0 0 0 0 0 0 0 5.881 194578 chr6 46610016 46610016 A C CYP39A1 Nonsynonymous SNV V66G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 194579 chr15 91455466 91455466 G A rs200668237 MAN2A2 Nonsynonymous SNV R768H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 194580 chr6 46851335 46851335 G A rs143316442 ADGRF5 Synonymous SNV S191S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 194581 chr13 32799081 32799081 C T rs372599052 FRY Nonsynonymous SNV A1643V 0 0.013 0 0 0 5 0 0 0 0 0 0 34 194582 chr13 32907435 32907435 A C rs55962656 BRCA2 Nonsynonymous SNV K607T 0 0.008 0 0 0 3 0 0 0 0 0 0 Likely benign 18.33 194583 chr14 93154443 93154443 C T RIN3 Nonsynonymous SNV A860V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 194584 chr2 169997031 169997031 G T LRP2 Nonsynonymous SNV P4378H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 194585 chr15 97326781 97326781 C A rs190089052 SPATA8 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.036 194586 chr13 35731314 35731314 C T rs759359553 NBEA Synonymous SNV Y917Y 0 0.01 0 1 0 4 0.003 0 0 0 0 0 10.21 194587 chr6 49668482 49668482 C A CRISP2 Nonsynonymous SNV A28S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.126 194588 chr1 175067547 175067547 C T rs143826266 TNN Synonymous SNV A645A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 194589 chr6 51637561 51637561 T C rs150925674 PKHD1 Nonsynonymous SNV S2861G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.905 194590 chr13 42273252 42273252 C T rs749858904 VWA8 Synonymous SNV P1173P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 15.02 194591 chr1 178410718 178410718 G A RASAL2 Nonsynonymous SNV C140Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 194592 chr15 100273589 100273589 - CGCGACC LYSMD4 Frameshift insertion G23Sfs*13 0.001 0 0 1 1 0 0.003 0 0 0 0 0 194593 chr15 100514676 100514676 G A rs78682885 ADAMTS17 Synonymous SNV Y1073Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 5.143 194594 chr15 100533325 100533325 C T rs758555346 ADAMTS17 Synonymous SNV T959T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.18 194595 chr16 1258134 1258134 A T rs200569619 CACNA1H Synonymous SNV P1092P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.053 194596 chr13 114058451 114058451 C T LOC101928841 Nonsynonymous SNV A1352T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.318 194597 chr1 183192395 183192395 A G rs143817389 LAMC2 Nonsynonymous SNV T297A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 194598 chr1 183532666 183532666 T A rs147744729 NCF2 Nonsynonymous SNV T280S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 26.6 194599 chr16 14647944 14647944 A G rs143472178 PARN Synonymous SNV L415L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.17 194600 chr15 102359291 102359291 T C rs765745294 OR4F15 Nonsynonymous SNV L301P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 194601 chr15 22960847 22960847 C T rs373438729 CYFIP1 Synonymous SNV T249T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.37 194602 chr16 15126721 15126721 T C rs1042216183 PDXDC1 Synonymous SNV Y498Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.113 194603 chr13 51854784 51854784 G A rs199909455 FAM124A Nonsynonymous SNV G345R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.264 194604 chr16 15661871 15661871 A G rs149928639 BMERB1 Nonsynonymous SNV M71V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.56 194605 chr9 133901856 133901856 C T rs2275135 LAMC3 Synonymous SNV R186R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.91 194606 chr16 16259762 16259762 C T rs372041663 ABCC6 Synonymous SNV A1008A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.78 194607 chr12 121958884 121958884 G A rs782467559 KDM2B Synonymous SNV Y286Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.476 194608 chr16 1859819 1859819 C T rs138163037 HAGH Nonsynonymous SNV G255R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 194609 chr1 198671518 198671518 G A PTPRC Nonsynonymous SNV V148I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 194610 chr15 35236603 35236603 G A rs747856432 AQR Synonymous SNV F119F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.3 194611 chr7 100088668 100088668 G A rs762797926 NYAP1 Nonsynonymous SNV V740M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 194612 chr7 100304735 100304735 G T rs150880640 POP7 Synonymous SNV G94G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 194613 chr1 202287827 202287827 G A LGR6 Nonsynonymous SNV G660D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 194614 chr14 103566935 103566935 C T rs374476935 EXOC3L4 Synonymous SNV L127L 0.002 0.016 0.003 0 2 6 0 1 0 0 0 0 6.12 194615 chr15 42114235 42114235 G A rs375998277 MAPKBP1 Synonymous SNV K986K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 194616 chr7 100551675 100551675 G C rs868783742 MUC3A Synonymous SNV G752G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 194617 chr14 105707618 105707618 C A rs587708306 BRF1 Synonymous SNV S22S 0 0.01 0 0 0 4 0 0 0 0 0 0 19.13 194618 chr13 52542601 52542601 G A rs138962570 ATP7B Synonymous SNV S562S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.656 194619 chr7 100552918 100552918 G C rs892573140 MUC3A Nonsynonymous SNV Q1131H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 194620 chr19 11537555 11537555 T C rs775771061 CCDC151 Nonsynonymous SNV Q167R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.93 194621 chr12 21355535 21355535 G A rs77468276 SLCO1B1 Nonsynonymous SNV V416M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.009 194622 chr19 12126319 12126319 A G rs776039130 ZNF433 Nonsynonymous SNV C455R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 194623 chr2 209101885 209101885 C T rs566072712 IDH1 Nonsynonymous SNV R388H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 194624 chr1 214815459 214815459 G A CENPF Nonsynonymous SNV G1260S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.989 194625 chr1 216040389 216040389 G A rs111033534 USH2A Synonymous SNV V2935V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.267 194626 chr15 56207678 56207678 C G rs60811367 NEDD4 Nonsynonymous SNV G451A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 194627 chr2 211089963 211089963 - C rs764706552 ACADL Frameshift insertion S9Vfs*34 0.001 0 0 1 1 0 0.003 0 0 0 0 0 194628 chr19 14043864 14043864 C T PODNL1 Nonsynonymous SNV R307H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 194629 chr14 23346237 23346237 A G rs755756828 LRP10 Nonsynonymous SNV Q548R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.027 194630 chr9 35906595 35906595 - CCACCACCGCCACCC HRCT1 H105_P106insHRHPH 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 194631 chr2 219204523 219204523 G A rs150402000 PNKD Nonsynonymous SNV R61H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 25.5 194632 chr14 103574815 103574815 G A rs148718670 EXOC3L4 Nonsynonymous SNV R646Q 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 16.62 194633 chr19 15514378 15514378 G A rs186142732 AKAP8L Synonymous SNV S90S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.95 194634 chr2 220113176 220113176 G C STK16 Synonymous SNV S239S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.922 194635 chr16 50744565 50744565 T G rs104895423 NOD2 Nonsynonymous SNV L221R 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Benign 25.3 194636 chr2 220348076 220348076 A G rs55760738 SPEG Nonsynonymous SNV E1964G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.91 194637 chr7 128446754 128446754 C T rs770281978 CCDC136 Nonsynonymous SNV R421W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 194638 chr7 128484926 128484926 C T rs762793681 FLNC Nonsynonymous SNV A1136V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 194639 chr15 70347482 70347482 G A rs200508723 TLE3 Nonsynonymous SNV T425M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 194640 chr7 128852206 128852206 C T SMO Nonsynonymous SNV H760Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 194641 chr19 16636150 16636150 C T CHERP Synonymous SNV P548P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 194642 chr7 131128384 131128384 C G rs201682593 MKLN1 Nonsynonymous SNV L233V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 194643 chr2 225657733 225657733 G A rs775672141 DOCK10 Nonsynonymous SNV P1751S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.05 194644 chr7 131925890 131925890 A G rs59165940 PLXNA4 Synonymous SNV Y513Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.514 194645 chr14 50065142 50065142 G A RPS29 Nonsynonymous SNV A10V 0 0.008 0 1 0 3 0.003 0 0 0 0 0 5.954 194646 chr2 227958984 227958984 G A rs747508280 COL4A4 Nonsynonymous SNV P409L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 194647 chr14 50901183 50901183 G A MAP4K5 Nonsynonymous SNV S698L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 13.69 194648 chr7 139746803 139746803 C T PARP12 Synonymous SNV K289K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 194649 chr16 682853 682853 G A rs778156475 WFIKKN1 Nonsynonymous SNV R148Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.971 194650 chr1 234553889 234553889 T C rs754569190 TARBP1 Nonsynonymous SNV I1216V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 194651 chr15 78921522 78921522 G A CHRNB4 Synonymous SNV T375T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 194652 chr15 81517756 81517756 C T rs202011202 IL16 Nonsynonymous SNV R6C 0.003 0 0 0 3 0 0 0 0 0 0 0 14.17 194653 chr16 70841632 70841632 T C rs200322457 HYDIN Nonsynonymous SNV K5073E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 194654 chr16 71209607 71209607 G C HYDIN Nonsynonymous SNV P167R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 194655 chr15 84694030 84694030 G A rs138649477 ADAMTSL3 Nonsynonymous SNV G1500S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 194656 chr7 1482030 1482030 C T rs149763522 MICALL2 Synonymous SNV S503S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 194657 chr16 19278311 19278311 G T SYT17 Synonymous SNV T442T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.05 194658 chr7 149255869 149255869 G T rs180962011 ZNF767P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.068 194659 chr14 61275103 61275103 A G rs997168035 MNAT1 Nonsynonymous SNV Q126R 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 24.2 194660 chr2 238244998 238244998 C T rs112382351 COL6A3 Synonymous SNV A2308A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.31 194661 chr2 238245171 238245171 C T rs111859552 COL6A3 Nonsynonymous SNV V2251I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.485 194662 chr2 238249414 238249414 T C rs35763271 COL6A3 Synonymous SNV L2108L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 0.097 194663 chr2 238249564 238249564 T G rs80193928 COL6A3 Synonymous SNV A2058A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 0.582 194664 chr2 238255152 238255152 T G rs35902696 COL6A3 Synonymous SNV G1755G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 11 194665 chr2 238256498 238256498 T C rs35993209 COL6A3 Synonymous SNV E1720E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 0.036 194666 chr2 238274410 238274410 G A rs751915461 COL6A3 Synonymous SNV Y1316Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.187 194667 chr12 53346002 53346002 G A KRT18 Nonsynonymous SNV A350T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 194668 chr16 767189 767189 C T rs375712522 METRN Synonymous SNV S228S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.55 194669 chr14 24780771 24780771 C T LTB4R2 Nonsynonymous SNV P301S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 194670 chr16 81301670 81301670 G C BCO1 Nonsynonymous SNV K259N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 194671 chr15 91181806 91181806 T G CRTC3 Synonymous SNV P465P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.14 194672 chr7 20198917 20198917 G A rs143555326 MACC1 Nonsynonymous SNV P356L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.366 194673 chr12 58127886 58127886 C G AGAP2 Nonsynonymous SNV S491T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 194674 chr15 99511745 99511745 C G rs112952017 PGPEP1L Nonsynonymous SNV E185Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.38 194675 chrX 153036044 153036044 G A rs781832307 PLXNB3 Nonsynonymous SNV V653M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.7 194676 chr16 2983857 2983857 G A rs778418980 FLYWCH1 Nonsynonymous SNV A464T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 194677 chr16 10996015 10996015 G A rs563299137 CIITA Nonsynonymous SNV R201H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 194678 chrX 153594449 153594449 C T rs782791907 FLNA Nonsynonymous SNV V458I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.42 194679 chr2 8926015 8926015 T A KIDINS220 Synonymous SNV S696S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 194680 chr16 12009539 12009539 - CCGCCG GSPT1 G16_S17insGG 0.002 0 0 0 2 0 0 0 0 0 0 0 194681 chr16 1252361 1252361 C T rs539497900 CACNA1H Synonymous SNV A637A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 194682 chr7 27185509 27185509 C T rs764072162 HOXA6 Nonsynonymous SNV R157Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 194683 chr2 11718531 11718531 G C GREB1 Nonsynonymous SNV S249T 0.001 0 0 0 1 0 0 0 0 0 0 0 1 194684 chr7 2742411 2742411 A G rs61738701 AMZ1 Synonymous SNV T120T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 194685 chr7 2752180 2752180 G A rs138704193 AMZ1 Nonsynonymous SNV A389T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 194686 chrX 38260590 38260590 C T rs766735977 OTC Nonsynonymous SNV T150I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.566 194687 chr16 16208889 16208889 G A rs200039403 ABCC1 Nonsynonymous SNV A1116T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 194688 chr2 25044449 25044449 C T ADCY3 Nonsynonymous SNV A1023T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 194689 chr16 89167527 89167527 C T ACSF3 Synonymous SNV V146V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.212 194690 chr16 19126706 19126706 G A rs150283829 ITPRIPL2 Nonsynonymous SNV R308H 0.001 0 0 0 1 0 0 0 0 0 0 0 29 194691 chr16 89702787 89702787 A G rs1025544903 DPEP1 Nonsynonymous SNV Y118C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.958 194692 chrX 63444939 63444939 G A rs201584164 ASB12 Nonsynonymous SNV R198C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 194693 chrX 66765167 66765167 - GCAGCAGCA AR Q80_E81insQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 194694 chrX 71350502 71350502 G A rs748229791 RTL5 Synonymous SNV L297L 0.001 0.005 0 2 1 2 0.005 0 0 1 0 0 0.368 194695 chr16 2230878 2230878 C T rs190145241 CASKIN1 Nonsynonymous SNV G831S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 194696 chr7 47915792 47915792 G A rs369495342 PKD1L1 Synonymous SNV Y1229Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.786 194697 chr3 38622503 38622503 G A rs867787484 SCN5A Synonymous SNV I1049I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.244 194698 chr15 101826461 101826461 C A SNRPA1 Nonsynonymous SNV R166L 0 0.005 0 0 0 2 0 0 0 0 0 0 24.7 194699 chr7 48452181 48452181 G T rs141576983 ABCA13 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 194700 chr2 33810246 33810246 T C FAM98A Nonsynonymous SNV D190G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 194701 chr2 36668615 36668615 G C CRIM1 Nonsynonymous SNV E240D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 194702 chr7 4876055 4876055 G A rs200447001 RADIL Synonymous SNV D239D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.85 194703 chr2 37076754 37076754 T C rs373594803 STRN Nonsynonymous SNV I730V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 194704 chr3 40465378 40465378 A G ENTPD3 Nonsynonymous SNV N426S 0 0 0 1 0 0 0.003 0 0 0 0 0 22 194705 chr17 17398578 17398578 C T rs146717971 RASD1 Nonsynonymous SNV G236D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.71 194706 chr2 39042756 39042756 C T rs142077846 DHX57 Synonymous SNV S1069S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 194707 chr16 2983950 2983950 C T rs775834806 FLYWCH1 Nonsynonymous SNV R495C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 194708 chr16 30779715 30779715 C T rs140772506 RNF40 Stop gain Q515X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 194709 chr7 65419354 65419356 TTA - rs772832119 VKORC1L1 I171del 0 0 0.003 0 0 0 0 1 0 0 0 0 194710 chr2 44539865 44539865 C T rs144065614 SLC3A1 Synonymous SNV A491A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.09 194711 chr16 31089218 31089218 G A rs112578158 ZNF646 Nonsynonymous SNV G525R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.665 194712 chr15 40477419 40477419 A G rs148159407 BUB1B Nonsynonymous SNV N269D 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 194713 chr3 45707180 45707180 G A rs771704284 LIMD1 Nonsynonymous SNV G517S 0 0 0 1 0 0 0.003 0 0 0 0 0 35 194714 chr2 48873596 48873596 C G GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV H97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 194715 chr3 45875738 45875738 T G rs9917821 LZTFL1 Nonsynonymous SNV N126H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.25 194716 chr2 50280476 50280476 G C NRXN1 Nonsynonymous SNV T289S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 194717 chr2 54858193 54858193 G C rs79576953 SPTBN1 Synonymous SNV R990R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.564 194718 chr2 54858253 54858253 G T rs76907296 SPTBN1 Nonsynonymous SNV E1010D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.66 194719 chr7 7613769 7613769 A G rs200088813 MIOS Synonymous SNV P445P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 194720 chr2 54871519 54871519 C T rs2271323 SPTBN1 Synonymous SNV L1342L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.24 194721 chr16 425378 425378 G A rs201414656 TMEM8A Nonsynonymous SNV L428F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 194722 chr3 46937262 46937262 G A rs116789130 PTH1R Synonymous SNV A72A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.976 194723 chr3 46966953 46966953 C T rs114731045 CCDC12 Synonymous SNV P79P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.73 194724 chr2 61413475 61413475 T C AHSA2P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.07 194725 chr3 47385091 47385091 G T KLHL18 Nonsynonymous SNV G462V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 194726 chr3 47385380 47385380 G A rs9848550 KLHL18 Synonymous SNV A558A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.48 194727 chr3 47891226 47891226 C T rs140367826 DHX30 Synonymous SNV L1100L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.71 194728 chr16 47622976 47622976 A T rs375710008 PHKB Nonsynonymous SNV D344V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 27 194729 chr3 48621180 48621180 C T rs148625586 COL7A1 Nonsynonymous SNV V1438I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.51 194730 chr3 48625791 48625791 G A rs201412774 COL7A1 Synonymous SNV R878R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.4 194731 chr3 48643235 48643235 C A rs201250580 UQCRC1 Nonsynonymous SNV A89S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 194732 chr3 49050641 49050641 C G rs191230183 WDR6 Synonymous SNV G532G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.271 194733 chr3 49152707 49152707 G A rs150605229 USP19 Nonsynonymous SNV A543V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 28.1 194734 chr3 49165978 49165978 C T rs200738080 LAMB2 Nonsynonymous SNV R644H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 194735 chr7 92731525 92731525 C T rs768318837 SAMD9 Nonsynonymous SNV V1296M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.827 194736 chr3 49691430 49691430 T A rs200382462 BSN Nonsynonymous SNV S1481T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.1 194737 chr3 49701910 49701910 C T rs149315260 BSN Nonsynonymous SNV P3888L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 26 194738 chr7 96635388 96635388 - CAG DLX6 Q44_P45insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 194739 chr17 28405349 28405349 C T rs73274829 EFCAB5 Stop gain Q952X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 34 194740 chr3 49833126 49833126 C T rs375725379 CDHR4 Nonsynonymous SNV R261Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 194741 chr19 45575761 45575761 C T ZNF296 Nonsynonymous SNV A176T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 33 194742 chr16 778004 778004 G A HAGHL Nonsynonymous SNV A49T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 194743 chr3 49940218 49940218 G A rs200038223 MST1R Synonymous SNV A275A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.989 194744 chr17 29162873 29162873 A G ATAD5 Nonsynonymous SNV K592E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.821 194745 chr16 55729270 55729270 T C SLC6A2 Nonsynonymous SNV M263T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 194746 chr17 2921462 2921462 C T rs372081904 RAP1GAP2 Synonymous SNV N519N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.06 194747 chr3 50294233 50294233 C T rs143353731 GNAI2 Synonymous SNV F143F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.14 194748 chr3 50329885 50329885 A T rs200409823 IFRD2 Nonsynonymous SNV S5T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.8 194749 chr2 74803654 74803654 T C rs755225252 M1AP Synonymous SNV K287K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.399 194750 chr3 50379289 50379289 T C rs114329675 ZMYND10 Nonsynonymous SNV Q353R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.016 194751 chr3 50609219 50609219 C T rs754675741 HEMK1 Nonsynonymous SNV R103C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.28 194752 chr3 50645354 50645354 G A rs775787307 CISH Nonsynonymous SNV P154L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 194753 chr3 51995242 51995242 G A rs147492902 PCBP4 Synonymous SNV D5D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.53 194754 chr2 85626327 85626327 T C rs147589569 CAPG Nonsynonymous SNV S200G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 194755 chr3 52538891 52538891 C T rs747904411 STAB1 Nonsynonymous SNV T459M 0 0 0 1 0 0 0.003 0 0 0 0 0 5.063 194756 chr3 52842570 52842570 G A ITIH3 Nonsynonymous SNV G849D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 194757 chr16 57935471 57935471 G T rs7190978 CNGB1 Nonsynonymous SNV D945E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.45 194758 chr17 33469114 33469114 G A rs140314263 NLE1 Nonsynonymous SNV R16W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 194759 chr8 10468039 10468039 G A rs200415537 RP1L1 Nonsynonymous SNV T1190M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 194760 chr8 104709513 104709513 C T rs755807622 RIMS2 Nonsynonymous SNV R126C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 194761 chr3 53699745 53699745 C T rs193196995 CACNA1D Synonymous SNV A275A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.74 194762 chr16 58568117 58568117 A G rs16960223 CNOT1 Synonymous SNV I1938I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 9.229 194763 chr3 53894170 53894170 G A rs534027641 IL17RB Synonymous SNV P287P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.14 194764 chr8 110131335 110131335 G A TRHR Nonsynonymous SNV R283K 0 0 0.003 0 0 0 0 1 0 0 0 0 28 194765 chr2 96803344 96803344 C T rs767926152 ASTL Nonsynonymous SNV G51R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.181 194766 chr10 13214698 13214698 G A rs150854146 MCM10 Synonymous SNV A175A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.52 194767 chr16 85667605 85667605 C T rs765186908 GSE1 Synonymous SNV P31P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 194768 chr3 86114834 86114834 G C rs36050101 CADM2 Synonymous SNV T381T 0 0 0.01 2 0 0 0.005 3 0 0 0 0 Benign 10.77 194769 chr8 126114606 126114606 A G rs767857244 NSMCE2 Nonsynonymous SNV T12A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.929 194770 chr3 97851543 97851543 T C rs150362159 OR5H1 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.94 194771 chr8 12950172 12950172 G A rs759769870 DLC1 Nonsynonymous SNV A719V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 194772 chr16 88787595 88787595 G A rs200031013 PIEZO1 Nonsynonymous SNV R1883W 0.003 0 0 0 3 0 0 0 0 0 0 0 23 194773 chr10 17271457 17271457 C G VIM Synonymous SNV R12R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 194774 chr16 88793193 88793193 G A rs761971227 PIEZO1 Nonsynonymous SNV A1210V 0.003 0 0 0 3 0 0 0 0 0 0 0 13.71 194775 chr15 74565186 74565186 T C rs759726985 CCDC33 Nonsynonymous SNV M238T 0 0.01 0 0 0 4 0 0 0 0 0 0 0.044 194776 chr2 113984778 113984778 G A rs145036350 PAX8 Nonsynonymous SNV A278V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.13 194777 chr15 77046287 77046287 C T rs372365937 SCAPER Synonymous SNV E330E 0 0.01 0.003 0 0 4 0 1 0 0 0 0 Benign 15.38 194778 chr2 119749395 119749395 - A rs762821199 MARCO Frameshift insertion G385Rfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 194779 chr16 89811410 89811410 G A rs143642304 FANCA Nonsynonymous SNV R1195W 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.87 194780 chr2 121747183 121747183 C G rs769069630 GLI2 Synonymous SNV G1089G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 194781 chr8 144397917 144397917 T C rs533790101 TOP1MT Synonymous SNV Q413Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 194782 chr2 128321812 128321812 A G MYO7B Nonsynonymous SNV K35E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 194783 chr19 5144329 5144329 G A rs770428179 KDM4B Nonsynonymous SNV R936H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 194784 chr10 3172118 3172118 G A rs61731932 PFKP Synonymous SNV A330A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 10.64 194785 chr10 3178022 3178022 G T rs61731936 PFKP Synonymous SNV T472T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 12.68 194786 chr10 3193456 3193456 A G rs184954182 PITRM1 Nonsynonymous SNV L542S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 24.7 194787 chr2 135628602 135628602 C A ACMSD Synonymous SNV P158P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 194788 chr8 144891121 144891121 G A SCRIB Synonymous SNV A591A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.969 194789 chr2 141526792 141526792 A T LRP1B Nonsynonymous SNV D1916E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 194790 chr8 144993765 144993765 A G PLEC Synonymous SNV Y3394Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 194791 chr2 141660547 141660547 C G rs150785160 LRP1B Nonsynonymous SNV K1236N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 194792 chr15 56155188 56155188 C T rs766308956 NEDD4 Synonymous SNV E546E 0.003 0 0 0 3 0 0 0 0 0 0 0 14.03 194793 chr2 152322277 152322277 C T rs61748235 RIF1 Synonymous SNV D2081D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 194794 chr8 145111353 145111353 C T rs201454549 OPLAH Nonsynonymous SNV G640S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 27.1 194795 chr17 41926254 41926254 C T rs147596228 CD300LG Synonymous SNV V124V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.704 194796 chr15 89870490 89870490 C T POLG Synonymous SNV E447E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.87 194797 chr2 153515794 153515794 C T rs760056687 PRPF40A Nonsynonymous SNV R828H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 194798 chr17 19699023 19699023 C T rs370397431 ULK2 Synonymous SNV G671G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.33 194799 chr15 90319806 90319806 G C MESP2 Nonsynonymous SNV R73P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24 194800 chr15 91424957 91424957 G A rs35641241 FURIN Nonsynonymous SNV R745Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21 194801 chr17 43013612 43013612 T C KIF18B Nonsynonymous SNV D34G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 194802 chr8 146033338 146033338 A T rs568338039 ZNF517 Nonsynonymous SNV D339V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 194803 chr3 129249851 129249851 T C RHO Nonsynonymous SNV L165P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 194804 chr16 88782812 88782812 G A rs374203151 PIEZO1 Nonsynonymous SNV R2336W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 194805 chr8 16884926 16884926 A C rs756435760 MICU3 Synonymous SNV R46R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.141 194806 chr8 17447245 17447245 T C rs143602536 PDGFRL Synonymous SNV Y108Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.133 194807 chr17 46000419 46000419 G A rs202014692 SP2 Nonsynonymous SNV C384Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 194808 chr16 88873786 88873786 C G CDT1 Nonsynonymous SNV A458G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 194809 chr3 132358345 132358345 G A ACAD11 Synonymous SNV H231H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.258 194810 chr16 13002414 13002414 C T SHISA9 Synonymous SNV V214V 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 5.121 194811 chr17 48433971 48433971 C A rs147847688 XYLT2 Nonsynonymous SNV P528T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 194812 chr8 22140722 22140722 C T rs373116342 PIWIL2 Nonsynonymous SNV P201S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.011 194813 chr17 4849267 4849267 T A rs151313170 PFN1 Nonsynonymous SNV E117D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 194814 chr17 4849268 4849268 T C rs140547520 PFN1 Nonsynonymous SNV E117G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 24.6 194815 chr16 1493948 1493948 C T CCDC154 Nonsynonymous SNV D25N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 194816 chr17 48626506 48626506 C T rs773926337 SPATA20 Stop gain R191X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 194817 chr2 179401845 179401845 A G rs56061641 TTN Nonsynonymous SNV C24266R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.36 194818 chr15 75521924 75521924 T - LOC105376731 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 194819 chr2 179418892 179418892 G A rs764695663 TTN Nonsynonymous SNV S20584L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 194820 chr2 179578713 179578713 T C rs146057575 TTN Nonsynonymous SNV N7647S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.992 194821 chr17 33772034 33772034 G A SLFN13 Synonymous SNV I222I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.753 194822 chr2 179638020 179638020 G A TTN Synonymous SNV S2511S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 194823 chr17 5366959 5366959 C T rs558551712 DHX33 Nonsynonymous SNV G114R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 194824 chr17 1132790 1132790 C T ABR Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 194825 chr14 45497469 45497471 AAG - TOGARAM1 K1200del 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 194826 chr14 45515896 45515896 C G TOGARAM1 Nonsynonymous SNV Q1435E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.2 194827 chr8 28928068 28928068 C T rs200053841 KIF13B Nonsynonymous SNV D1812N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 194828 chr14 47566272 47566272 T C rs747449955 MDGA2 Nonsynonymous SNV E258G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.8 194829 chr8 2976018 2976018 G A rs371752238 CSMD1 Synonymous SNV F2111F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.608 194830 chr17 36482454 36482454 G C rs768798444 GPR179 Nonsynonymous SNV A2333G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.981 194831 chr17 36623314 36623314 G A ARHGAP23 Nonsynonymous SNV E464K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.09 194832 chr16 2018877 2018877 T C rs181399062 RNF151 Nonsynonymous SNV V230A 0.004 0.008 0.014 1 5 3 0.003 4 0 0 0 0 0.001 194833 chr17 57262557 57262557 A G rs145164508 PRR11 Nonsynonymous SNV I91V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 194834 chr8 33361318 33361318 G A rs138108276 TTI2 Nonsynonymous SNV R324C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 194835 chr16 2121616 2121616 A G rs762331610 TSC2 Nonsynonymous SNV M449V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 194836 chr8 42033561 42033561 T G PLAT Nonsynonymous SNV T458P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 194837 chr10 79759832 79759832 A G rs146899211 POLR3A Synonymous SNV G841G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.553 194838 chr17 19684338 19684338 T C rs146758486 ULK2 Nonsynonymous SNV K907E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 194839 chr8 56717529 56717529 G A rs34860495 TGS1 Nonsynonymous SNV V600I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 194840 chr3 184157288 184157288 C A LINC02054 0 0 0 1 0 0 0.003 0 0 0 0 0 3.427 194841 chr16 25251324 25251324 C T rs755990861 ZKSCAN2 Nonsynonymous SNV R906Q 0 0.005 0 0 0 2 0 0 0 0 0 0 0.598 194842 chr8 65488980 65488980 C A rs565771233 LOC401463 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 194843 chr2 206659536 206659536 C T NRP2 Synonymous SNV P828P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.138 194844 chr17 67170902 67170902 T G rs778649223 ABCA10 Nonsynonymous SNV Q965P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.1 194845 chr8 72965907 72965907 T C rs1013281401 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 194846 chr17 26918889 26918889 G A rs144911043 SPAG5 Nonsynonymous SNV R422W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 194847 chr17 7124998 7124998 T C rs768975918 ACADVL Nonsynonymous SNV S185P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.7 194848 chr17 26965044 26965044 A T KIAA0100 Synonymous SNV I384I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.219 194849 chr17 27898670 27898670 C T rs199981752 TP53I13 Nonsynonymous SNV A57V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.7 194850 chr19 7677732 7677732 C T CAMSAP3 Nonsynonymous SNV R785W 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 194851 chr2 219127780 219127780 C T rs201129128 GPBAR1 Synonymous SNV Y111Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.651 194852 chr4 673778 673778 T C rs2228354 MYL5 Nonsynonymous SNV F88S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.9 194853 chr17 41958626 41958626 A G MPP2 Nonsynonymous SNV L291P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 194854 chr19 8563966 8563966 C T PRAM1 Synonymous SNV P242P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.86 194855 chr4 2043725 2043725 C T C4orf48 Nonsynonymous SNV R2C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 194856 chr19 8999448 8999448 T C rs796597641 MUC16 Nonsynonymous SNV H13576R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.76 194857 chr17 4351511 4351511 C G rs753111287 SPNS3 Nonsynonymous SNV P101R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 194858 chr19 8999458 8999458 G T rs563004057 MUC16 Nonsynonymous SNV Q13573K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 15.32 194859 chr4 3189510 3189510 T C rs150003356 HTT Nonsynonymous SNV C1708R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 10.7 194860 chr9 114475440 114475440 T C rs77603777 SHOC1 Nonsynonymous SNV I707V 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 18.88 194861 chr16 50326666 50326666 G A rs138459146 ADCY7 Nonsynonymous SNV R206Q 0.004 0.016 0 0 5 6 0 0 0 0 0 0 18.96 194862 chr16 53338523 53338523 A C rs751765379 CHD9 Nonsynonymous SNV E2202A 0 0.005 0 0 0 2 0 0 0 0 0 0 12.54 194863 chr17 4720444 4720444 A G rs137971062 PLD2 Nonsynonymous SNV T569A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.01 194864 chr19 9060344 9060344 G A rs750154035 MUC16 Synonymous SNV D9034D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.229 194865 chr2 232030716 232030716 C T rs149102064 PSMD1 Synonymous SNV Y869Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 194866 chr4 13603598 13603598 T C rs145416062 BOD1L1 Synonymous SNV V1642V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.2 194867 chr9 126129458 126129458 C T rs201665228 CRB2 Synonymous SNV S254S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.62 194868 chr4 17707448 17707448 C G rs151185488 FAM184B Nonsynonymous SNV G366A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 194869 chr4 17711031 17711031 C T rs564470488 FAM184B Synonymous SNV R126R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.57 194870 chr17 56056605 56056619 TGCTGCTGCTGCTGC - VEZF1 Q350_Q354del 0.003 0 0 0 4 0 0 0 0 0 0 0 194871 chr16 66783161 66783161 A G rs768050356 DYNC1LI2 Synonymous SNV H79H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.586 194872 chr11 110008024 110008024 C T rs138052077 ZC3H12C Nonsynonymous SNV R220W 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 29 194873 chr16 67264083 67264083 C A rs146514223 FHOD1 Nonsynonymous SNV V1034F 0 0.005 0 0 0 2 0 0 0 0 0 0 20.2 194874 chr16 67719595 67719595 G A rs145918148 GFOD2 Synonymous SNV G8G 0 0.005 0 0 0 2 0 0 0 0 0 0 15.83 194875 chr9 131469240 131469240 G A rs758479945 PKN3 Nonsynonymous SNV A197T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 194876 chr16 68055494 68055494 G A rs772761157 DDX28 Stop gain Q538X 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 35 194877 chr16 68264911 68264911 G A rs200397589 ESRP2 Synonymous SNV Y587Y 0 0.005 0 0 0 2 0 0 0 0 0 0 0.034 194878 chr16 68373695 68373695 G A rs770775042 PRMT7 Nonsynonymous SNV D201N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.2 194879 chr9 133729463 133729463 G A rs368476764 ABL1 Nonsynonymous SNV R31Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 194880 chr4 44177125 44177125 A T rs766493694 KCTD8 Synonymous SNV T368T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.526 194881 chr4 44626682 44626682 C T rs371547157 YIPF7 Nonsynonymous SNV V206M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 194882 chr4 44631443 44631443 C A rs368056535 YIPF7 Nonsynonymous SNV A159S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 194883 chr2 242498946 242498946 C G rs148655369 BOK Nonsynonymous SNV D16E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.2 194884 chr4 47916047 47916047 C T rs146857504 NFXL1 Synonymous SNV A58A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 15.59 194885 chr11 121175190 121175190 G T SC5D Stop gain E111X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 40 194886 chr9 135470485 135470485 T C rs773943948 DDX31 Nonsynonymous SNV K702R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.869 194887 chr4 56329865 56329865 - G CLOCK Frameshift insertion E183Rfs*29 0 0 0 1 0 0 0.003 0 0 0 0 0 194888 chr3 3072638 3072638 G T CNTN4 Nonsynonymous SNV A259S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 194889 chr17 42809588 42809588 C T DBF4B Synonymous SNV L171L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 194890 chr11 12316353 12316353 - CTCCTC MICALCL P470_T471insPP 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 194891 chr4 57244392 57244392 T A rs146080836 AASDH Nonsynonymous SNV H97L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 194892 chr3 9851746 9851746 G C TTLL3 Nonsynonymous SNV R19P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.448 194893 chr9 138516498 138516498 C T GLT6D1 Synonymous SNV L92L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.306 194894 chr9 138670613 138670613 G A rs376757326 KCNT1 Nonsynonymous SNV E847K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 194895 chr9 139927579 139927579 G C rs367614826 C9orf139 Nonsynonymous SNV G22R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 194896 chr11 1254335 1254335 G A MUC5B Nonsynonymous SNV V720I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.08 194897 chr9 140123265 140123266 CT - rs59816380 RNF224 C67Sfs*30 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 194898 chr9 140123477 140123477 G A rs73671307 RNF224 Nonsynonymous SNV R137K 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 0.222 194899 chr9 140772669 140772669 - GCCATTCGAGT CACNA1B Frameshift insertion Y99Ffs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 194900 chr16 87874044 87874044 T C rs750247543 SLC7A5 Nonsynonymous SNV N269S 0 0.008 0 0 0 3 0 0 0 0 0 0 23.5 194901 chr3 32483440 32483440 G A rs377268191 CMTM7 Nonsynonymous SNV A90T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 194902 chr17 5319981 5319981 G A rs772714757 NUP88 Nonsynonymous SNV P107S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 194903 chr18 50832036 50832036 G A rs200099519 DCC Nonsynonymous SNV R667H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 34 194904 chr4 86844844 86844844 C T ARHGAP24 Synonymous SNV L9L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.83 194905 chr3 36545903 36545903 A G rs7634545 STAC Nonsynonymous SNV N201S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.3 194906 chr17 56350195 56350195 C T rs139720381 MPO Nonsynonymous SNV R569Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.3 194907 chr17 56448280 56448280 C A RNF43 Nonsynonymous SNV A123S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 194908 chr4 88986956 88986956 G A rs753806545 PKD2 Synonymous SNV K761K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.97 194909 chr3 38139300 38139300 C T rs187581481 DLEC1 Synonymous SNV A877A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.71 194910 chr17 59556137 59556137 C T rs758160320 TBX4 Synonymous SNV H233H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.45 194911 chr9 35712062 35712062 G C rs145275772 TLN1 Synonymous SNV R1207R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 194912 chr17 59821901 59821901 G A BRIP1 Synonymous SNV L717L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.7 194913 chr11 18497028 18497028 A C rs770549442 LDHAL6A Nonsynonymous SNV Y145S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 26.8 194914 chr16 89354951 89354951 G A ANKRD11 Synonymous SNV N243N 0 0.008 0 0 0 3 0 0 0 0 0 0 11.39 194915 chr17 62131772 62131772 G A rs762051354 ERN1 Synonymous SNV A597A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 194916 chr9 712003 712003 G A rs143391040 KANK1 Nonsynonymous SNV V255I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 194917 chr17 79173225 79173225 G A rs555735703 CEP131 Nonsynonymous SNV T383I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.254 194918 chr9 75369720 75369720 T C rs779639998 TMC1 Nonsynonymous SNV Y221H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 194919 chr17 11666849 11666849 C T DNAH9 Nonsynonymous SNV A2363V 0 0.008 0 0 0 3 0 0 0 0 0 0 20 194920 chr17 79954356 79954356 G A rs181726751 ASPSCR1 Synonymous SNV A112A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.547 194921 chr17 12663841 12663841 C T rs28730828 LOC100128006 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 7.499 194922 chr18 74091979 74091979 C T rs368331380 ZNF516 Synonymous SNV T697T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.94 194923 chr9 8437216 8437216 C G PTPRD Nonsynonymous SNV G917R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 194924 chr4 125593650 125593650 T C rs147124891 ANKRD50 Nonsynonymous SNV Y82C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.92 194925 chr17 71282259 71282259 G A rs150501422 CDC42EP4 Synonymous SNV A127A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.844 194926 chr17 7132723 7132723 T C rs766953260 DVL2 Nonsynonymous SNV N264S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 194927 chr3 49167815 49167815 G A rs765736533 LAMB2 Synonymous SNV F358F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.64 194928 chr3 49213220 49213220 C T rs752885062 KLHDC8B Nonsynonymous SNV R351C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 194929 chr9 96439091 96439091 G A rs751289477 PHF2 Synonymous SNV S1016S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.556 194930 chr11 31816281 31816281 G T PAX6 Nonsynonymous SNV N57K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 194931 chr17 18059598 18059598 G A rs568612566 MYO15A Nonsynonymous SNV R2850Q 0 0.008 0 0 0 3 0 0 0 0 0 0 25.4 194932 chr4 141481094 141481094 G A rs529781757 UCP1 Stop gain R294X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 194933 chr3 49456732 49456732 G A rs976237396 AMT Synonymous SNV R175R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 194934 chr3 49568502 49568502 A G DAG1 Synonymous SNV E186E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 194935 chr4 142649127 142649127 G A rs148183667 IL15 Nonsynonymous SNV S77N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.51 194936 chrUn_gl000220 118221 118221 A G RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 194937 chrUn_gl000220 118432 118432 C T RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.017 0 0 0 0 5 0 0 0 0 194938 chr11 32977570 32977570 A G QSER1 Nonsynonymous SNV K1552E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.2 194939 chr3 49848751 49848751 A T rs763983581 UBA7 Synonymous SNV P359P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 194940 chr17 19315909 19315909 G A rs201611770 RNF112 Nonsynonymous SNV R65H 0 0.008 0 0 0 3 0 0 0 0 0 0 19.27 194941 chr17 19646703 19646703 G A rs147115158 ALDH3A1 Nonsynonymous SNV P79L 0.001 0.01 0 0 1 4 0 0 0 0 0 0 22.7 194942 chr3 51680484 51680484 A T rs770220894 RAD54L2 Nonsynonymous SNV S1005C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 194943 chrX 113865312 113865312 G A rs144225158 SNORA35 0 0 0.007 0 0 0 0 2 0 0 0 0 14.87 194944 chrX 118243116 118243116 T C KIAA1210 Nonsynonymous SNV M234V 0 0 0.01 0 0 0 0 3 0 0 1 0 0.003 194945 chrX 122538687 122538687 C T GRIA3 Synonymous SNV I474I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 194946 chr19 11323999 11323999 C T rs200307398 DOCK6 Synonymous SNV P1448P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 17.41 194947 chr17 26488210 26488210 G A NLK Synonymous SNV Q223Q 0 0.008 0 0 0 3 0 0 0 0 0 0 10.12 194948 chr4 170982112 170982112 C T rs139230340 AADAT Synonymous SNV Q415Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.552 194949 chr3 66430820 66430820 G A rs745427634 LRIG1 Nonsynonymous SNV A1050V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 194950 chr18 32833713 32833713 G A rs146290259 ZSCAN30 Nonsynonymous SNV R209W 0.003 0 0 0 4 0 0 0 0 0 0 0 26.9 194951 chr11 47200814 47200814 G A rs147818380 PACSIN3 Nonsynonymous SNV R266C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.4 194952 chr3 74385771 74385771 T - CNTN3 N468Mfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 194953 chr4 185638352 185638352 T C rs752413881 CENPU 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 194954 chr17 7609006 7609006 G A EFNB3 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 194955 chr17 76120637 76120637 C T rs8078238 TMC6 Nonsynonymous SNV V287I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.005 194956 chrX 153247678 153247678 G A rs139416361 TMEM187 Synonymous SNV P55P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.047 194957 chrX 17819358 17819358 G A rs138717812 RAI2 Nonsynonymous SNV S258F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.3 194958 chrX 27479611 27479611 T C rs182704937 PPP4R3C Synonymous SNV S601S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 194959 chr5 1038011 1038011 C T rs34109339 NKD2 Synonymous SNV A293A 0 0 0 3 0 0 0.008 0 0 0 0 0 8.603 194960 chrX 46918388 46918388 C T rs144893581 JADE3 Nonsynonymous SNV S794L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 194961 chr5 5182219 5182219 A G rs764776870 ADAMTS16 Synonymous SNV S188S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.157 194962 chr5 5306687 5306687 A C ADAMTS16 Nonsynonymous SNV K1086T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 194963 chrX 49098567 49098567 C T CCDC22 Nonsynonymous SNV A105V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 194964 chr3 113344960 113344960 C T rs916722023 SIDT1 Synonymous SNV A716A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 194965 chr19 17547269 17547269 A C TMEM221 X292G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 194966 chrX 56291853 56291853 A G rs146429909 KLF8 Nonsynonymous SNV I103V 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Benign 0.001 194967 chr5 7867941 7867941 C A rs763134231 FASTKD3 Nonsynonymous SNV D86Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 194968 chrX 68382674 68382674 T C rs201978736 PJA1 Synonymous SNV R81R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.045 194969 chr17 38100954 38100954 C T rs769759963 LRRC3C Synonymous SNV S265S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.08 194970 chrX 70837091 70837091 C A rs749047760 CXCR3 Synonymous SNV V124V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.868 194971 chrX 71359310 71359310 T G rs144418513 NHSL2 Nonsynonymous SNV W638G 0.002 0 0.003 0 2 0 0 1 1 0 0 0 25.2 194972 chrX 74961807 74961807 C T rs370173959 TTC3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.774 194973 chr3 121207976 121207976 C T rs142531238 POLQ Nonsynonymous SNV V1268I 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 0.003 194974 chr17 80403747 80403747 G A rs147800925 CYBC1 Synonymous SNV H83H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.871 194975 chr17 80445940 80445940 G A rs140332994 NARF Synonymous SNV L378L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.3 194976 chr10 101478164 101478164 G A COX15 Nonsynonymous SNV S309F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 194977 chr19 18779460 18779460 C T KLHL26 Nonsynonymous SNV T447M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 194978 chr19 18900843 18900843 C T COMP Nonsynonymous SNV V100M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 194979 chr10 102242306 102242306 G T rs138709733 WNT8B Synonymous SNV G263G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.715 194980 chr18 77089191 77089191 G A ATP9B Synonymous SNV R608R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.37 194981 chr17 39412064 39412064 G A rs374673591 KRTAP9-9 Nonsynonymous SNV A143T 0 0.008 0 0 0 3 0 0 0 0 0 0 17.26 194982 chr16 2485840 2485840 G A rs140856384 CCNF Synonymous SNV V104V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.47 194983 chr18 77918178 77918178 G C PARD6G Nonsynonymous SNV L203V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 194984 chr10 104136544 104136544 C T GBF1 Synonymous SNV A1425A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 194985 chr17 970386 970386 G A rs781153941 ABR Synonymous SNV P153P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 194986 chr5 39316091 39316091 T C rs768789173 C9 Nonsynonymous SNV E219G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 194987 chr10 105437870 105437870 C T rs147718947 SH3PXD2A Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.851 194988 chr5 41195939 41195939 G A rs114609505 C6 Nonsynonymous SNV T181I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 6.187 194989 chr16 28509264 28509264 A T rs772761568 APOBR Nonsynonymous SNV T968S 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 0.209 194990 chr3 128616543 128616543 A G rs770234633 ACAD9 Nonsynonymous SNV N208S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 194991 chr18 13087559 13087559 C T CEP192 Synonymous SNV D1969D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 194992 chr3 128973556 128973556 G A rs138650108 COPG1 Synonymous SNV P123P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 194993 chr3 129140272 129140273 TG - rs547269424 EFCAB12 M142Dfs*54 0.002 0 0 0 2 0 0 0 0 0 0 0 194994 chr16 30006065 30006065 C T HIRIP3 Nonsynonymous SNV R134Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.097 194995 chr5 54429334 54429334 A T CDC20B Nonsynonymous SNV D201E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 194996 chr16 30116083 30116083 A T LOC101928595 0.001 0 0 0 1 0 0 0 0 0 0 0 2.907 194997 chr3 130103941 130103941 T C rs375567738 COL6A5 Nonsynonymous SNV I532T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.207 194998 chr3 130287069 130287069 T A COL6A6 Nonsynonymous SNV F674L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 194999 chr18 2552743 2552743 T C rs961402245 METTL4 Nonsynonymous SNV I284V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 195000 chr5 64100159 64100159 C T rs149929520 CWC27 Nonsynonymous SNV A295V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 195001 chr5 68398943 68398943 T C rs757646636 SLC30A5 Synonymous SNV I46I 0 0 0 2 0 0 0.005 0 0 0 0 1 10.3 195002 chr3 138191698 138191698 T C rs201810544 ESYT3 Nonsynonymous SNV I745T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.064 195003 chr5 74676922 74676922 T C rs141459538 CERT1 Synonymous SNV L548L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 8.778 195004 chr19 11552158 11552158 C T rs151207349 PRKCSH Nonsynonymous SNV R152W 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 25.4 195005 chr3 142232415 142232415 T C ATR Synonymous SNV K1459K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.888 195006 chr11 57313460 57313460 C T rs201662089 SMTNL1 Nonsynonymous SNV R342W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 29.5 195007 chr3 151166011 151166011 G T rs761553955 IGSF10 Nonsynonymous SNV F586L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 195008 chr10 13386827 13386827 G A rs2275127 SEPHS1 Synonymous SNV L42L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.639 195009 chr3 160037636 160037636 T C rs138081429 IFT80 Nonsynonymous SNV N153S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 195010 chr3 183013219 183013219 A G rs767759131 MCF2L2 Nonsynonymous SNV I515T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 195011 chr5 90136657 90136657 C T rs373862154 ADGRV1 Nonsynonymous SNV S5625L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.8 195012 chr5 95018319 95018319 G A rs200330491 SPATA9 Synonymous SNV I21I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.09 195013 chr5 98210808 98210808 C T CHD1 Synonymous SNV K1136K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.04 195014 chr11 61276491 61276491 G A rs543955974 LRRC10B Synonymous SNV T7T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 13.62 195015 chr17 61615432 61615432 T A rs199756290 KCNH6 Nonsynonymous SNV M503K 0 0.008 0 0 0 3 0 0 0 0 0 0 29.6 195016 chr18 74208485 74208485 - G rs782788867 C18orf65 0.001 0 0 1 1 0 0.003 0 0 0 0 0 195017 chr19 4171132 4171132 A G rs141474353 CREB3L3 Nonsynonymous SNV Q311R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 195018 chr19 17953318 17953318 C T rs765732864 JAK3 Nonsynonymous SNV R223H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 195019 chr10 3189629 3189629 C A rs143032647 PITRM1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.184 195020 chr3 194118946 194118946 C T rs202032002 GP5 Synonymous SNV P22P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 195021 chr19 18254779 18254779 C T rs767805098 MAST3 Nonsynonymous SNV A820V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.38 195022 chr3 195515860 195515860 G A rs372862585 MUC4 Nonsynonymous SNV A864V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.014 195023 chr5 131607087 131607087 C G PDLIM4 Nonsynonymous SNV P200A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.389 195024 chr5 131993938 131993938 C T rs55733734 IL13 Synonymous SNV T20T 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 9.918 195025 chr5 134369496 134369496 C T PITX1 Nonsynonymous SNV D26N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 195026 chr19 19653231 19653231 T A rs186322474 CILP2 Nonsynonymous SNV S214T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 195027 chr5 139422532 139422543 GCTGCTGCTGCT - rs780362974 NRG2 S38_S41del 0 0 0 1 0 0 0.003 0 0 0 0 0 195028 chr19 10506145 10506145 G A rs61747102 CDC37 Synonymous SNV F151F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.48 195029 chr19 4491797 4491797 C T rs201430193 HDGFL2 Nonsynonymous SNV P215S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.08 195030 chr10 5136670 5136670 G C rs782394641 AKR1C3 Nonsynonymous SNV D12H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 195031 chr17 7163821 7163821 C T rs780943523 CLDN7 Nonsynonymous SNV A170T 0.001 0.01 0 0 1 4 0 0 0 0 0 0 33 195032 chr19 4510726 4510726 C T rs760717333 PLIN4 Synonymous SNV L1082L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.964 195033 chr4 2929959 2929959 C T rs867219062 ADD1 Synonymous SNV L641L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 195034 chr10 61955908 61955908 C T rs540939855 ANK3 Nonsynonymous SNV A611T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 195035 chr19 11488789 11488789 A G rs138190746 EPOR Synonymous SNV T466T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 7.656 195036 chr17 7320455 7320455 C T rs751363510 NLGN2 Synonymous SNV L615L 0.001 0.01 0 0 1 4 0 0 0 0 0 0 13.11 195037 chr11 66360249 66360249 G A rs755017754 CCDC87 Stop gain R80X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 195038 chr11 66411516 66411516 T C RBM14-RBM4, RBM4 Synonymous SNV A311A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.194 195039 chr11 67049174 67049174 C G GRK2 Synonymous SNV L267L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.882 195040 chr17 73609291 73609291 G A MYO15B 0.003 0.01 0 0 3 4 0 0 0 0 0 0 20.5 195041 chr4 6711243 6711243 G A rs143673287 MRFAP1L1 Synonymous SNV D38D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.727 195042 chr4 6711260 6711260 T G rs148080183 MRFAP1L1 Nonsynonymous SNV N33H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.487 195043 chr17 74005742 74005742 C G rs200577963 EVPL Nonsynonymous SNV V1204L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.109 195044 chr19 12978455 12978455 C G MAST1 Synonymous SNV G769G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 195045 chr19 48183849 48183849 G C rs570502021 BICRA Synonymous SNV L474L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.701 195046 chr19 36223864 36223864 G A rs557429530 KMT2B Synonymous SNV P2138P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.87 195047 chr10 75258443 75258443 C T rs117429793 USP54 Nonsynonymous SNV D1605N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 10.94 195048 chr19 48789501 48789501 T C rs16981956 ZNF114 Nonsynonymous SNV V207A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.023 195049 chr10 75566456 75566456 C T rs554272858 NDST2 Nonsynonymous SNV V403M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 195050 chr4 15005364 15005364 G A CPEB2 Nonsynonymous SNV G356D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 195051 chr19 3748014 3748014 G A rs536563927 TJP3 Nonsynonymous SNV V849M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 195052 chr1 248366777 248366777 G A rs777194099 OR2M3 Nonsynonymous SNV M136I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.23 195053 chr5 156649980 156649980 G A rs768763459 ITK Synonymous SNV L201L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.776 195054 chr17 77071032 77071032 G A ENGASE Synonymous SNV E2E 0 0.005 0 0 0 2 0 0 0 0 0 0 2.379 195055 chr17 78013774 78013774 A G rs202220442 CCDC40 Nonsynonymous SNV Y86C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 7.885 195056 chr19 37854398 37854398 C T rs964209827 ZNF875 Synonymous SNV N507N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.28 195057 chr10 90332782 90332782 A T rs758177204 RNLS Nonsynonymous SNV I135N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 195058 chr17 7324402 7324402 G A rs61744495 SPEM1 Synonymous SNV K136K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.183 195059 chr19 38912771 38912771 C T rs750881682 RASGRP4 Nonsynonymous SNV G16R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.34 195060 chr19 38939091 38939091 G A rs76854339 RYR1 Synonymous SNV V299V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.44 195061 chr4 40752941 40752941 C G rs116454763 NSUN7 Synonymous SNV S77S 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 9.113 195062 chr5 176022563 176022563 C A CDHR2 Nonsynonymous SNV P1275T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.918 195063 chr17 73927339 73927339 T C rs537422190 FBF1 Nonsynonymous SNV M67V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 195064 chr5 176885509 176885509 G A rs148087477 DBN1 Synonymous SNV D174D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.027 195065 chr5 176886180 176886180 C T rs763518397 DBN1 Nonsynonymous SNV A81T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.08 195066 chr19 17922470 17922470 A G rs142379648 B3GNT3 Nonsynonymous SNV M220V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.167 195067 chr4 54440157 54440160 CTGG - rs773475446 LNX1 P4Sfs*99 0.001 0 0 0 1 0 0 0 0 0 0 0 195068 chr10 99118332 99118332 A G rs769000601 RRP12 Synonymous SNV Y1151Y 0 0 0.007 0 0 0 0 2 0 0 0 0 2.413 195069 chr11 884153 884153 T C CHID1 Nonsynonymous SNV M209V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.83 195070 chr17 81008112 81008112 G T rs9895345 B3GNTL1 Nonsynonymous SNV H3N 0 0.005 0 0 0 2 0 0 0 1 0 0 0.834 195071 chr17 8792179 8792179 G T PIK3R5 Nonsynonymous SNV Q309K 0 0.005 0 0 0 2 0 0 0 0 0 0 11.49 195072 chr6 401701 401701 G A rs202225254 IRF4 Synonymous SNV A340A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.314 195073 chr19 19339376 19339376 T G NCAN Nonsynonymous SNV F983V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 195074 chr19 53573286 53573286 G A rs376170454 ZNF160 Synonymous SNV R167R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.015 195075 chr19 2416714 2416714 A G rs148293449 TMPRSS9 Nonsynonymous SNV I608V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.15 195076 chr19 2433886 2433886 C T rs771415464 LMNB2 Nonsynonymous SNV V474I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 195077 chr4 79410027 79410027 A G FRAS1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 195078 chr6 15496616 15496616 G A rs146276296 JARID2 Nonsynonymous SNV R215H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 195079 chr17 79358935 79358935 C G LOC100130370 0.002 0 0 0 2 0 0 0 0 0 0 0 1.248 195080 chr4 84230554 84230554 C T rs200961522 HPSE 0.001 0 0 0 1 0 0 0 0 0 0 0 27 195081 chr17 79638825 79638825 G A rs139778041 CCDC137 Synonymous SNV A183A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.88 195082 chr19 44778451 44778451 - CAC rs747608327 ZNF233 S546_Q547insH 0.003 0 0 0 4 0 0 0 0 0 0 0 195083 chr11 107535820 107535820 G A rs199808335 ELMOD1 Nonsynonymous SNV R293H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 195084 chr19 33703206 33703206 G A rs150158176 SLC7A10 Synonymous SNV D260D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.981 195085 chr19 33892760 33892760 G A rs371699300 PEPD Synonymous SNV G237G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.81 195086 chr18 3742409 3742409 C A rs370004987 DLGAP1 Nonsynonymous SNV A124S 0.001 0.01 0 0 1 4 0 0 0 0 0 0 15.19 195087 chr18 42532026 42532026 C T rs148632511 SETBP1 Synonymous SNV S907S 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 Likely benign 9.753 195088 chr17 80356130 80356130 G A rs116091860 OGFOD3 Synonymous SNV G255G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.49 195089 chr17 80399002 80399002 G A rs201878766 HEXD Nonsynonymous SNV R371H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 195090 chr17 80399036 80399036 C T rs200765434 HEXD Synonymous SNV S382S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.69 195091 chr12 110019267 110019267 G C MVK Nonsynonymous SNV A147P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 195092 chr18 43310986 43310986 C A rs768487613 SLC14A1 Nonsynonymous SNV P109H 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 12.32 195093 chr18 43490537 43490537 G C rs200040634 EPG5 Nonsynonymous SNV S1385C 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 Uncertain significance 3.543 195094 chr17 80887123 80887123 G T rs8072406 TBCD Nonsynonymous SNV G943V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.589 195095 chr11 111784411 111784412 CC - HSPB2 E116Vfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 195096 chr11 111784415 111784417 AGA - HSPB2 E116del 0 0 0.003 0 0 0 0 1 0 0 0 0 195097 chr11 111784420 111784424 TCTGC - HSPB2 F117Sfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 195098 chr6 26124781 26124781 C T rs143405410 H2AC6 Synonymous SNV G107G 0 0 0 2 0 0 0.005 0 0 0 0 0 16.78 195099 chr18 44584615 44584615 C T rs201774517 KATNAL2 Synonymous SNV N3N 0 0.008 0 0 0 3 0 0 0 0 0 0 14.69 195100 chr18 47811604 47811604 G A rs146150722 CXXC1 Nonsynonymous SNV T227M 0.003 0.01 0 0 4 4 0 0 0 0 0 0 16.99 195101 chr19 36164436 36164436 G C rs34952797 UPK1A Nonsynonymous SNV V153L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.09 195102 chr4 109010315 109010315 C T rs144971579 LEF1 Synonymous SNV P171P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 195103 chr12 113624587 113624587 G A RITA1 Nonsynonymous SNV M36I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.29 195104 chr19 36217184 36217184 C G KMT2B Synonymous SNV G1311G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 195105 chr19 56565133 56565133 C A NLRP5 Stop gain C1086X 0 0.003 0 0 0 1 0 0 0 0 0 0 33 195106 chr12 113753177 113753177 G A rs377257713 SLC8B1 Synonymous SNV S310S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 195107 chr17 8925810 8925810 C T rs376332478 NTN1 Synonymous SNV P40P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.92 195108 chr11 113848538 113848538 C T rs765949813 HTR3A Nonsynonymous SNV S38L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 195109 chr4 110929357 110929357 T C rs375529575 EGF Nonsynonymous SNV V1073A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 195110 chr4 111482613 111482613 A G rs147367863 ENPEP Nonsynonymous SNV R925G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.1 195111 chr19 46270298 46270298 C T rs751921163 SIX5 Nonsynonymous SNV A307T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.458 195112 chr19 46333446 46333446 C T rs764924429 SYMPK Nonsynonymous SNV G539R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.4 195113 chr11 117063304 117063304 C T SIDT2 Nonsynonymous SNV R666C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 195114 chr4 114279501 114279501 T A ANK2 Nonsynonymous SNV S3243T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 195115 chr1 55145103 55145103 G A rs140173222 MROH7 Synonymous SNV A257A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.89 195116 chr11 118183431 118183431 G A rs200087808 CD3E Nonsynonymous SNV G68S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 195117 chr11 118239356 118239356 A G rs147046456 UBE4A Synonymous SNV P44P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.385 195118 chr11 119215586 119215586 C T rs61736238 MFRP Nonsynonymous SNV R257H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.69 195119 chr18 60625954 60625954 G A rs374412781 PHLPP1 Synonymous SNV P1139P 0 0.01 0 0 0 4 0 0 0 0 0 0 13.19 195120 chr6 39159379 39159379 G A rs150380866 KCNK5 Nonsynonymous SNV R263W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 195121 chr6 39869161 39869161 G T DAAM2 Nonsynonymous SNV L965F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 195122 chr12 122685086 122685086 C T LRRC43 Nonsynonymous SNV S500F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 195123 chr6 43184202 43184202 C T rs373348071 CUL9 Synonymous SNV D2081D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 195124 chr18 71749248 71749248 G A FBXO15 Nonsynonymous SNV H393Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 1.517 195125 chr12 124811963 124811963 G A rs766258727 NCOR2 Nonsynonymous SNV T2382I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.25 195126 chr4 152024133 152024133 T C rs765983941 RPS3A Synonymous SNV Y155Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 195127 chr4 153896424 153896426 CCT - rs768192300 FHDC1 P662del 0.001 0 0 0 1 0 0 0 0 0 0 0 195128 chr19 49573380 49573380 T C rs138349875 KCNA7 Synonymous SNV V437V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 195129 chr18 74208559 74208559 G A rs970392193 C18orf65 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.262 195130 chr19 49814539 49814539 A C rs201901598 SLC6A16 Nonsynonymous SNV I22M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.023 195131 chr4 155226305 155226305 T C DCHS2 Nonsynonymous SNV E1780G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 195132 chr18 33706857 33706857 C T rs775264520 SLC39A6 Synonymous SNV P38P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.919 195133 chr11 124134993 124134993 C T rs141886948 OR8G5 Nonsynonymous SNV H91Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.7 195134 chr18 34232739 34232741 CCT - FHOD3 S500del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 195135 chr11 124754954 124754954 C T rs146230377 ROBO4 Nonsynonymous SNV R850H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 195136 chr19 41173453 41173453 A T NUMBL Nonsynonymous SNV L543I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 195137 chr6 47682109 47682109 C T rs561203681 ADGRF4 Synonymous SNV C376C 0 0 0 1 0 0 0.003 0 0 0 0 0 7.95 195138 chr19 41928265 41928265 C T rs371343548 BCKDHA Synonymous SNV G281G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.7 195139 chr19 7965231 7965231 G C LRRC8E Nonsynonymous SNV Q479H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 195140 chr6 54025395 54025395 A G rs146495445 MLIP Nonsynonymous SNV M278V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 195141 chr19 51844479 51844479 C T VSIG10L Nonsynonymous SNV G275R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 195142 chr19 44242358 44242358 G A rs762214846 SMG9 Synonymous SNV S275S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 195143 chr4 186570673 186570673 C T rs757538970 SORBS2 Nonsynonymous SNV V77I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 195144 chr11 17517160 17517160 C T rs56165709 USH1C Nonsynonymous SNV A871T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.74 195145 chr11 17632026 17632026 G A rs1009910852 OTOG Nonsynonymous SNV E1739K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 195146 chr12 27543010 27543010 G T rs374227571 ARNTL2-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.53 195147 chr4 187628723 187628723 G C rs142968581 FAT1 Synonymous SNV V753V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.622 195148 chr4 189068172 189068172 C T rs537044360 TRIML1 Synonymous SNV T351T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 195149 chr6 83861638 83861638 A G rs748014943 DOP1A Nonsynonymous SNV I1972V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.27 195150 chr19 1468442 1468442 C T rs113191430 APC2 Synonymous SNV S1713S 0.002 0.01 0.003 0 2 4 0 1 0 0 0 0 Benign 13.47 195151 chr17 4905917 4905917 G A KIF1C Nonsynonymous SNV M196I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 195152 chr6 89859012 89859012 A C PM20D2 Nonsynonymous SNV E165A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 195153 chr11 30914473 30914473 G A rs764427413 DCDC1 Synonymous SNV V762V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.936 195154 chr19 45567737 45567737 C T rs766193082 CLASRP Nonsynonymous SNV R358C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 195155 chr5 19473336 19473336 T C rs776373159 CDH18 X791W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 195156 chr5 32786413 32786413 C T rs142228984 NPR3 Nonsynonymous SNV R273W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 195157 chr19 16666081 16666081 T C rs140984339 SLC35E1 Nonsynonymous SNV N295S 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 15.78 195158 chr19 55177750 55177750 G A rs146946125 LILRB4 Nonsynonymous SNV G341R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 195159 chr12 50498448 50498448 A G rs749012180 GPD1 Nonsynonymous SNV I45V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 195160 chr5 40853572 40853572 A G rs763090706 CARD6 Nonsynonymous SNV Q713R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 195161 chr5 40972534 40972534 G A rs200375051 C7 Nonsynonymous SNV D638N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 195162 chr5 41005699 41005699 C T rs141655634 MROH2B Synonymous SNV Q1266Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.29 195163 chr6 119150335 119150335 G A rs766157559 MCM9 Synonymous SNV S468S 0.005 0 0 1 6 0 0.003 0 0 0 0 0 18.15 195164 chr6 122779712 122779712 C T rs146909687 SERINC1 Nonsynonymous SNV V52I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 195165 chr6 126240516 126240516 G T rs932523659 NCOA7 Nonsynonymous SNV R5I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 195166 chr11 47359334 47359334 C T rs368104687 MYBPC3 Nonsynonymous SNV A774T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 22.4 195167 chr20 30072161 30072161 G A REM1 Synonymous SNV L275L 0.003 0 0 0 3 0 0 0 0 0 0 0 1.845 195168 chr19 49632197 49632197 G A rs773674031 PPFIA3 Synonymous SNV G145G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.22 195169 chr19 49841964 49841964 G A rs748361655 CD37 Nonsynonymous SNV C84Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 195170 chr19 49843566 49843566 G A rs200341521 CD37 Nonsynonymous SNV R208Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 195171 chr20 34560703 34560703 T C rs769682923 CNBD2 Synonymous SNV A68A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.794 195172 chr6 152655270 152655270 G A rs145738035 SYNE1 Nonsynonymous SNV R4152C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 24.1 195173 chr1 118623767 118623767 C T rs745476940 SPAG17 Synonymous SNV E722E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.861 195174 chr1 118640385 118640385 T C rs769037394 SPAG17 Nonsynonymous SNV K307E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 195175 chr5 78351678 78351678 A G rs776483131 DMGDH Synonymous SNV Y110Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.488 195176 chr19 51843527 51843527 C T VSIG10L Nonsynonymous SNV V406I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 195177 chr12 57111229 57111229 G A rs200363394 NACA Nonsynonymous SNV T1362I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.775 195178 chr19 648194 648194 G A rs147803444 RNF126 Synonymous SNV F263F 0.003 0 0 0 3 0 0 0 0 0 0 0 9.025 195179 chr20 40049753 40049753 T C rs140430642 CHD6 Nonsynonymous SNV D1841G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.55 195180 chr19 6733302 6733302 C T rs201975754 GPR108 Nonsynonymous SNV R245Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 195181 chr1 1309561 1309561 C G rs369816391 AURKAIP1 Nonsynonymous SNV S106T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.799 195182 chr12 58130872 58130872 G A rs138797704 AGAP2 Synonymous SNV R386R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.367 195183 chr19 52091563 52091563 T G rs764618079 ZNF175 Nonsynonymous SNV V660G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 195184 chr1 145560138 145560138 C T rs200110585 ANKRD35 Synonymous SNV H118H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.538 195185 chr1 146751854 146751854 A C CHD1L Nonsynonymous SNV Q361H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 195186 chr5 94785984 94785984 T C rs200730993 FAM81B X453Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 195187 chr6 167549938 167549938 T C CCR6 Nonsynonymous SNV Y74H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 195188 chr6 168352229 168352229 C A rs376409651 AFDN Nonsynonymous SNV P1375T 0.003 0 0 7 3 0 0.018 0 0 0 0 0 24.4 195189 chr5 96315363 96315363 C T rs142895005 LNPEP Synonymous SNV L181L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.662 195190 chr11 556354 556354 C T LMNTD2 Synonymous SNV V365V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 195191 chr11 55927452 55927452 G C OR8K5 Nonsynonymous SNV I114M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 195192 chr7 796607 796607 C G rs571248637 DNAAF5 Synonymous SNV A482A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.812 195193 chr19 1795913 1795913 C T rs772754370 ATP8B3 Synonymous SNV R625R 0.007 0.003 0 0 8 1 0 0 0 0 0 0 10.58 195194 chr7 2275003 2275003 G A rs193099124 MRM2 Synonymous SNV L165L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.2 195195 chr12 75816777 75816780 AAAG - rs767148201 GLIPR1L2 Stop gain K228* 0 0.003 0 1 0 1 0.003 0 0 0 0 0 195196 chr1 154474406 154474406 G C rs746746840 SHE Nonsynonymous SNV R33G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.43 195197 chr5 126674844 126674844 A G MEGF10 Nonsynonymous SNV H50R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 195198 chr5 126755873 126755873 G A rs140563851 MEGF10 Nonsynonymous SNV G522R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 195199 chr11 56230314 56230314 C G rs774420405 OR5M9 Synonymous SNV G188G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.473 195200 chr1 155447702 155447702 G A rs777473734 ASH1L Synonymous SNV N1653N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.724 195201 chr1 155744921 155744921 T C rs966881399 GON4L Nonsynonymous SNV H741R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 195202 chr5 128302155 128302155 G A rs76331109 SLC27A6 Nonsynonymous SNV A109T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 195203 chr19 20807175 20807175 - T ZNF626 Frameshift insertion I503Nfs*95 0.001 0 0 0 1 0 0 0 0 0 0 0 195204 chr19 20807177 20807177 G A ZNF626 Synonymous SNV I502I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.885 195205 chr5 133997162 133997162 C T rs182592775 SEC24A Nonsynonymous SNV H151Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.027 195206 chr12 9086869 9086869 C G PHC1 Nonsynonymous SNV A683G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.35 195207 chr1 156821201 156821201 G A rs374392471 INSRR Synonymous SNV H370H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.826 195208 chr1 156883547 156883547 A G rs78770410 PEAR1 Nonsynonymous SNV N903S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.002 195209 chr19 5623267 5623267 G A rs149144520 SAFB Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 195210 chr1 101185453 101185453 A T rs144133931 VCAM1 Nonsynonymous SNV N13Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 195211 chr7 22767226 22767226 C T rs140764737 IL6 Synonymous SNV L61L 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Likely benign 13.11 195212 chr1 158687255 158687255 A C rs759668627 OR6K3 Stop gain Y217X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 195213 chr11 60501025 60501025 G A rs551355988 MS4A18 Nonsynonymous SNV G164S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 195214 chr5 140799826 140799826 G A rs775335307 PCDHGB7 Synonymous SNV K800K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 195215 chr11 60707031 60707031 G A rs147719580 SLC15A3 Synonymous SNV N452N 0 0 0.007 0 0 0 0 2 0 0 0 0 12.71 195216 chr19 57336001 57336001 G A rs201826016 PEG3 Nonsynonymous SNV S8F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.69 195217 chr19 5783379 5783379 G A rs139287768 PRR22 Synonymous SNV F293F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.027 195218 chr5 148651535 148651535 G T AFAP1L1 Nonsynonymous SNV D2Y 0.002 0 0 0 2 0 0 0 1 0 0 0 26.8 195219 chr19 58117117 58117118 TG - ZNF530 S76Tfs*12 0.003 0 0 0 3 0 0 0 0 0 0 0 195220 chr7 40173834 40173834 G T MPLKIP Nonsynonymous SNV H111Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 195221 chr11 62494472 62494472 G A rs965932522 HNRNPUL2 Nonsynonymous SNV P53S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 195222 chr19 58639677 58639677 G A rs375089625 ZNF329 Synonymous SNV P398P 0.003 0 0 0 4 0 0 0 0 0 0 0 2.288 195223 chr5 150506033 150506033 C T rs927372658 ANXA6 Nonsynonymous SNV G297D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 195224 chr19 4511722 4511722 C G rs745665440 PLIN4 Synonymous SNV G750G 0.006 0.005 0 0 7 2 0 0 1 0 0 0 4.241 195225 chr1 170007568 170007568 T C KIFAP3 Nonsynonymous SNV D83G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 195226 chr1 171303787 171303787 C A FMO4 Synonymous SNV V355V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.09 195227 chr13 24797831 24797831 C T rs377364615 SPATA13 Nonsynonymous SNV T255M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 195228 chr5 150946613 150946613 T C rs144956475 FAT2 Nonsynonymous SNV N627S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.001 195229 chr5 150946913 150946913 C T rs774676657 FAT2 Nonsynonymous SNV R527K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 195230 chr19 5924893 5924893 G A rs10417885 RANBP3 Nonsynonymous SNV A241V 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 20.2 195231 chr19 6476907 6476907 G T rs11880672 DENND1C Synonymous SNV A169A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.396 195232 chr21 41648111 41648111 C T rs79723432 DSCAM Nonsynonymous SNV V757M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 195233 chr1 118535192 118535192 G A rs138653942 SPAG17 Nonsynonymous SNV P1753L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.4 195234 chr19 38160929 38160929 G T rs372284302 ZNF781 Nonsynonymous SNV P41T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 195235 chr11 64990002 64990002 C T rs746280262 SLC22A20P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.95 195236 chr5 156514129 156514129 C T rs138139756 HAVCR2 Nonsynonymous SNV R297H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 195237 chr19 3831827 3831827 G A rs370878466 ZFR2 Synonymous SNV H143H 0.007 0.003 0 0 8 1 0 0 0 0 0 0 0.756 195238 chr1 12170246 12170246 C A TNFRSF8 Nonsynonymous SNV P110T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.11 195239 chr1 1223321 1223321 C T rs747659181 SCNN1D Synonymous SNV D522D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.682 195240 chr7 49815414 49815414 A G rs543106702 VWC2 Nonsynonymous SNV Q128R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.71 195241 chr19 38591837 38591837 C T rs147598199 SIPA1L3 Nonsynonymous SNV T667I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 195242 chr11 65396412 65396412 G C rs370416138 PCNX3 Nonsynonymous SNV D1312H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 195243 chr19 4683082 4683082 C T rs937737352 DPP9-AS1 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 17.07 195244 chr1 180012250 180012250 T C rs140618430 CEP350 Synonymous SNV L1474L 0.001 0.005 0.01 2 1 2 0.005 3 0 0 0 0 0.025 195245 chr7 55270272 55270272 C T rs140117937 EGFR Synonymous SNV G808G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.33 195246 chr11 66131129 66131129 C G rs778995539 LOC102724064 0 0 0.003 0 0 0 0 1 0 0 0 0 5.869 195247 chr19 48953603 48953603 G C rs148152481 GRWD1 Nonsynonymous SNV V168L 0.002 0.013 0 2 2 5 0.005 0 0 0 0 0 12.99 195248 chr11 6648208 6648208 C T rs141121553 DCHS1 Nonsynonymous SNV R2021H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 195249 chr1 147126323 147126323 C T rs782552755 ACP6 Nonsynonymous SNV V256M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 195250 chr1 184764196 184764196 G A rs745419980 NIBAN1 Nonsynonymous SNV P901L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.778 195251 chr1 149916563 149916563 C A rs782764400 OTUD7B Nonsynonymous SNV K575N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.09 195252 chr7 75894704 75894704 C T rs560787592 SRRM3 Nonsynonymous SNV R250W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 195253 chr11 6736620 6736620 C T rs61735336 GVINP1 0 0 0.027 0 0 0 0 8 0 0 0 0 3.751 195254 chr11 67814983 67814983 G A rs140963213 TCIRG1 Nonsynonymous SNV A201T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 195255 chr5 177637254 177637254 C T rs770532947 HNRNPAB Synonymous SNV Y303Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 195256 chr1 151955753 151955753 G C rs142923959 S100A10 Nonsynonymous SNV D60E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 195257 chr1 152325241 152325241 T G rs151207521 FLG2 Nonsynonymous SNV H1674P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 195258 chr1 154842330 154842330 - TGCTGC KCNN3 Q41_P42insQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 195259 chr11 74424436 74424436 C T rs767196551 CHRDL2 Nonsynonymous SNV C75Y 0 0 0.007 0 0 0 0 2 0 0 0 0 31 195260 chr19 9490763 9490763 C A rs200350306 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV T95K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 195261 chr19 51630540 51630540 C T rs144427909 SIGLEC9 Synonymous SNV N334N 0.001 0.01 0 0 1 4 0 0 0 0 0 0 10.85 195262 chr1 155921119 155921119 C G rs761926689 MIR6738 0.002 0 0 0 2 0 0 0 0 0 0 0 4.531 195263 chr6 11768482 11768482 C T rs138175677 ADTRP Synonymous SNV T96T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.463 195264 chr19 51883885 51883885 C T rs142030761 LIM2 Nonsynonymous SNV V112I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.1 195265 chr1 201869849 201869849 C T rs763324935 LMOD1 Nonsynonymous SNV A98T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 195266 chr1 102462356 102462356 T C rs760547171 OLFM3 Nonsynonymous SNV N6S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 195267 chr6 13625996 13625996 C T rs142527632 RANBP9 Nonsynonymous SNV D650N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 195268 chr6 18197401 18197401 C T KDM1B Synonymous SNV L229L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.71 195269 chr19 4523889 4523889 C T rs200877814 PLIN5 Nonsynonymous SNV R348Q 0.007 0.005 0 0 8 2 0 0 0 0 0 0 23 195270 chr11 8435100 8435100 T G rs140349792 STK33 Nonsynonymous SNV Q242P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.473 195271 chr11 85396550 85396550 C A rs147189667 CCDC89 Nonsynonymous SNV E208D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 195272 chr1 158435716 158435716 G A rs199525511 OR10K1 Nonsynonymous SNV R122H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 195273 chr6 26020783 26020783 C T rs61735215 HIST1H3A Synonymous SNV A22A 0.003 0 0.01 0 4 0 0 3 0 0 0 0 8.967 195274 chr1 110590420 110590420 T G rs36100542 STRIP1 Synonymous SNV A435A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.84 195275 chr1 205308914 205308914 G C rs116078922 KLHDC8A Synonymous SNV G133G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.239 195276 chr1 110924275 110924275 G A rs781407792 SLC16A4 Synonymous SNV P59P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 195277 chr6 26250744 26250744 C G H3C7 Synonymous SNV A30A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.652 195278 chr14 20856122 20856122 A G rs141445002 TEP1 Nonsynonymous SNV S768P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 195279 chr11 93800788 93800788 C A rs747521269 HEPHL1 Nonsynonymous SNV T312N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 195280 chr19 54304482 54304482 G A rs61741349 NLRP12 Nonsynonymous SNV R920W 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 24.2 195281 chr1 160267156 160267156 C T rs759567454 COPA Nonsynonymous SNV R756Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.9 195282 chr12 10137608 10137608 T C rs144513800 CLEC12A Nonsynonymous SNV Y228H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 195283 chr1 213414627 213414627 T G rs755474543 RPS6KC1 Nonsynonymous SNV I138R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 195284 chr6 35604901 35604901 G A rs201013987 FKBP5 Nonsynonymous SNV P47L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 195285 chr19 55556567 55556567 G A rs755173048 RDH13 Nonsynonymous SNV L291F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.47 195286 chr1 215820991 215820991 C T rs111033525 USH2A Synonymous SNV T4888T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.46 195287 chr6 41739152 41739152 T C rs748007549 FRS3 Synonymous SNV Q228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 195288 chr19 55870844 55870844 - GCTGGGGCCTTCTGGGATGGAGCAGGTACA FAM71E2 A474_I475insVPAPSQKAPA 0 0.008 0 0 0 3 0 0 0 0 0 0 195289 chr6 42235914 42235914 G A TRERF1 Nonsynonymous SNV S472F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 195290 chr7 110764628 110764628 G A rs141155565 LRRN3 Synonymous SNV Q600Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.589 195291 chr7 111381599 111381599 C T rs765468990 DOCK4 Nonsynonymous SNV R1630H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 195292 chr19 50321638 50321638 G T rs759296377 MED25 Nonsynonymous SNV V14L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.94 195293 chr19 50412102 50412102 C A rs763249376 NUP62 Synonymous SNV G321G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.27 195294 chr12 112370461 112370461 C A rs145360299 TMEM116 Nonsynonymous SNV V211F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 195295 chr19 51162288 51162288 C A rs563701623 C19orf81 Synonymous SNV I162I 0.003 0 0 0 4 0 0 0 0 0 0 0 23 195296 chr12 113726614 113726614 G T TPCN1 Nonsynonymous SNV M518I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 195297 chr1 152324665 152324665 G C rs369775361 FLG2 Nonsynonymous SNV T1866R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 195298 chr12 116972354 116972354 A C rs568784237 LINC00173 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 195299 chr1 154965435 154965435 G C FLAD1 Synonymous SNV L562L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.915 195300 chr6 54173381 54173381 T G rs144064742 TINAG Synonymous SNV S11S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign 0.477 195301 chr1 22850752 22850752 C T rs940884487 ZBTB40 Nonsynonymous SNV R1002C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 195302 chr7 134891879 134891879 C T rs150931054 WDR91 Nonsynonymous SNV R196H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 195303 chr1 228559463 228559463 T C OBSCN Nonsynonymous SNV I6995T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.612 195304 chr1 180235528 180235528 C T rs121912642 LHX4 Nonsynonymous SNV R84C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.9 195305 chr6 65596632 65596632 T C EYS Nonsynonymous SNV R984G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.78 195306 chr1 180849421 180849421 G T XPR1 Nonsynonymous SNV R608L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 195307 chr1 156303414 156303414 C T rs142838408 CCT3 Synonymous SNV A38A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 195308 chr6 69349231 69349231 C A ADGRB3 Nonsynonymous SNV L222M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 195309 chr6 74079045 74079045 A C rs201767692 OOEP Nonsynonymous SNV I85R 0.004 0 0 0 5 0 0 0 0 0 0 0 0.005 195310 chr7 141805656 141805656 A G rs773456429 MGAM Nonsynonymous SNV N1847D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.439 195311 chr1 158057852 158057852 A G rs925768473 KIRREL1 Nonsynonymous SNV N175S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 195312 chr6 78171959 78171959 A T HTR1B Nonsynonymous SNV C388S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 195313 chr12 13241688 13241688 - GGGAG rs746435025 GSG1 Frameshift insertion G175Pfs*209 0 0 0.003 1 0 0 0.003 1 0 0 0 0 195314 chr12 133277867 133277867 T C PXMP2 Nonsynonymous SNV M144T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.403 195315 chr19 6896482 6896482 C T rs139950723 ADGRE1 Synonymous SNV C56C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.801 195316 chr7 148895510 148895510 G A rs199638052 ZNF282 Nonsynonymous SNV R84H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 195317 chr19 55179121 55179121 G A rs61738941 LILRB4 Synonymous SNV T389T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.012 195318 chr19 30935200 30935200 C G rs202070946 ZNF536 Nonsynonymous SNV A244G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.144 195319 chr7 149513150 149513150 C A rs769741579 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 12.08 195320 chr12 14019110 14019110 C T rs199904091 GRIN2B Synonymous SNV K11K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.09 195321 chr12 1599351 1599351 C T rs779769083 ERC1 Synonymous SNV P1074P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 195322 chr19 55623857 55623857 C T rs768729064 PPP1R12C Synonymous SNV L183L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.22 195323 chr12 2074725 2074725 T C rs1013656314 DCP1B Nonsynonymous SNV K174R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 195324 chr1 2435575 2435575 G A rs776396701 PLCH2 Synonymous SNV P1058P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.911 195325 chr1 201178738 201178738 C T rs549161418 IGFN1 Nonsynonymous SNV P1573S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 195326 chr1 201178926 201178926 - GCAGGTTATAGGAAGGATTTGGGGGCTTCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA IGFN1 A1644_P1645insSKGMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGA 0.001 0 0 0 1 0 0 0 0 0 0 0 195327 chr7 150932222 150932222 G A rs138209627 CHPF2 Nonsynonymous SNV V118M 0 0 0 2 0 0 0.005 0 0 0 0 0 28.3 195328 chr7 150938689 150938689 G A rs1050102 SMARCD3 Synonymous SNV H276H 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 1.62 195329 chr1 161180482 161180482 G A rs35086265 NDUFS2 Nonsynonymous SNV R323Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.05 195330 chr1 161182192 161182192 G A NDUFS2 Synonymous SNV Q346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.739 195331 chr6 110533413 110533413 A G rs374768334 CDC40 Nonsynonymous SNV M269V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.18 195332 chr7 155090327 155090327 T C rs200641765 INSIG1 Nonsynonymous SNV V111A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 195333 chr1 161953624 161953624 G A rs150437510 OLFML2B Synonymous SNV Y699Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 5.342 195334 chr6 111587259 111587259 C T rs138228344 MFSD4B Nonsynonymous SNV S165L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 195335 chr7 156742461 156742461 C T NOM1 Synonymous SNV A10A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.24 195336 chr7 157475462 157475462 C T PTPRN2 Synonymous SNV S614S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 195337 chr12 43769927 43769927 C G rs371611244 ADAMTS20 Nonsynonymous SNV E1749Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 195338 chr1 205052778 205052778 A G rs754759605 TMEM81 Nonsynonymous SNV V224A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.14 195339 chr6 127611360 127611360 C T ECHDC1 Stop gain W112X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 195340 chr19 57286230 57286230 G A rs147779075 ZIM2 Synonymous SNV D470D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.361 195341 chr8 8750195 8750195 G C rs755033985 MFHAS1 Nonsynonymous SNV A125G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 10.61 195342 chr19 9083103 9083103 G A rs113082988 MUC16 Synonymous SNV S2904S 0 0.008 0 0 0 3 0 0 0 0 0 0 11.04 195343 chr12 49314759 49314759 C T rs199522748 CCDC65 Nonsynonymous SNV T215I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 195344 chr1 21011303 21011303 G A rs569249224 KIF17 Nonsynonymous SNV R744C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 195345 chr8 11666148 11666148 C T rs572324764 FDFT1 Nonsynonymous SNV P41L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.653 195346 chr12 49445310 49445310 G A rs185660524 KMT2D Nonsynonymous SNV P719L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.395 195347 chr6 145157510 145157510 G C UTRN Nonsynonymous SNV E3300Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 195348 chr8 17067970 17067970 C G rs747924334 ZDHHC2 Nonsynonymous SNV L266V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.961 195349 chr1 26308925 26308925 A - PAFAH2 L199Rfs*20 0.003 0.003 0 0 3 1 0 0 0 0 0 0 195350 chr14 99724171 99724171 C T BCL11B Nonsynonymous SNV A21T 0 0 0 3 0 0 0.008 0 0 0 0 0 16.44 195351 chr1 103453238 103453238 C T rs142523692 COL11A1 Nonsynonymous SNV R702Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 23.4 195352 chr1 181767449 181767449 A G CACNA1E Nonsynonymous SNV S2079G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 195353 chr1 10468185 10468185 C G rs371025944 PGD Synonymous SNV P147P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.38 195354 chr1 108291630 108291630 C T VAV3 Nonsynonymous SNV D488N 0 0.005 0 0 0 2 0 0 0 0 0 0 34 195355 chr12 53004319 53004319 - C rs372663689 KRT73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 195356 chr1 29475421 29475421 T C SRSF4 Nonsynonymous SNV Q329R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 195357 chr8 21974472 21974472 C T rs754376572 HR Synonymous SNV L1098L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 195358 chr1 183184617 183184617 G A rs755322403 LAMC2 Nonsynonymous SNV G100R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 195359 chr6 152728218 152728218 T C SYNE1 Synonymous SNV P2225P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.99 195360 chr12 53241780 53241780 C T rs779932386 KRT78 Synonymous SNV R60R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 195361 chr1 32149760 32149760 C T rs34770879 COL16A1 Nonsynonymous SNV G745S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 195362 chr1 33292303 33292303 C T rs761144397 S100PBP Synonymous SNV S201S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.068 195363 chr1 33772676 33772676 C A rs766854285 A3GALT2 Synonymous SNV A238A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.12 195364 chr1 19559580 19559580 C T rs144396621 EMC1 Synonymous SNV L472L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.6 195365 chr8 24342803 24342803 T C rs770363794 ADAM7 Nonsynonymous SNV Y297H 0 0 0 1 0 0 0.003 0 0 0 0 0 22 195366 chr1 34643521 34643521 T C rs781422404 C1orf94 Nonsynonymous SNV L44P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.1 195367 chr12 56031101 56031101 C T rs149553341 OR10P1 Synonymous SNV C142C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.244 195368 chr12 56031102 56031102 A G rs144238113 OR10P1 Nonsynonymous SNV M143V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 195369 chr1 200801345 200801345 - CAC CAMSAP2 E221_Q222insH 0.002 0 0 0 2 0 0 0 0 0 0 0 195370 chr1 200827133 200827133 A G rs778623408 CAMSAP2 Synonymous SNV L1445L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.614 195371 chr1 201175719 201175719 T G IGFN1 Synonymous SNV L566L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.193 195372 chr8 30977939 30977939 A G WRN Nonsynonymous SNV R877G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.8 195373 chr12 58176608 58176608 C T rs138461986 TSFM Synonymous SNV R8R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.14 195374 chr1 40704748 40704748 C T rs137946572 RLF Synonymous SNV R1458R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.745 195375 chr15 42292432 42292432 C T rs776888413 PLA2G4E Nonsynonymous SNV R241H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 195376 chr8 42977531 42977531 C T rs55724435 POMK Synonymous SNV I188I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 8.772 195377 chr8 42977849 42977849 G A rs56282240 POMK Synonymous SNV G294G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 4.755 195378 chr1 120295173 120295173 C T rs142776952 HMGCS2 Synonymous SNV K431K 0.004 0.013 0.01 3 5 5 0.008 3 0 0 0 0 Benign 11.09 195379 chr1 233297021 233297021 A - rs775764978 PCNX2 L1121Cfs*19 0.002 0 0 0 2 0 0 0 0 0 0 0 195380 chr12 667806 667806 G A rs141487675 B4GALNT3 Nonsynonymous SNV A914T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 195381 chr8 66963814 66963814 G A rs139242175 DNAJC5B Nonsynonymous SNV R11Q 0 0 0 2 0 0 0.005 0 0 0 0 0 26.2 195382 chr15 43815501 43815501 A G MAP1A Synonymous SNV L610L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.054 195383 chr7 2752196 2752196 C T rs148936052 AMZ1 Nonsynonymous SNV P394L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.973 195384 chr1 46182667 46182668 TA - IPP I403Rfs*5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 195385 chr15 45426064 45426064 G A DUOX1 Nonsynonymous SNV A21T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 195386 chr15 45437127 45437127 C T rs763581105 DUOX1 Nonsynonymous SNV A724V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 195387 chr1 207200929 207200929 C G rs145706842 C1orf116 Nonsynonymous SNV E5D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.2 195388 chr7 6441993 6441993 C G rs61753123 RAC1 Synonymous SNV L165L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 Benign 11.84 195389 chr1 51787479 51787479 G A TTC39A Synonymous SNV L21L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.684 195390 chr1 52838859 52838859 G A rs61756139 ORC1 Synonymous SNV D860D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.296 195391 chr7 11076060 11076060 C A rs747272623 PHF14 Synonymous SNV R540R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 195392 chr7 11676095 11676095 T C rs190601093 THSD7A Synonymous SNV G228G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.039 195393 chr7 12396905 12396905 T C rs79233092 VWDE Nonsynonymous SNV R1056G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13 195394 chr8 99030315 99030315 G A rs760479573 MATN2 Nonsynonymous SNV R556Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.919 195395 chr7 12409197 12409197 C G rs78231473 VWDE Nonsynonymous SNV S797T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.846 195396 chr7 12409209 12409209 G A rs77088407 VWDE Nonsynonymous SNV S793F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 195397 chr7 15601409 15601409 - AA rs370025027 AGMO Frameshift insertion Y21Ffs*4 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 195398 chr8 103341566 103341566 T C UBR5 Nonsynonymous SNV K387R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 195399 chr7 16900154 16900154 A G AGR3 Nonsynonymous SNV Y141H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 195400 chr1 115537342 115537342 A G SYCP1 Synonymous SNV T884T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.174 195401 chr15 68605165 68605165 G A rs757011991 ITGA11 Synonymous SNV N973N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.615 195402 chr8 128753146 128753146 G A rs761932135 MYC Nonsynonymous SNV R435Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 195403 chr7 30085829 30085829 A C PLEKHA8 Nonsynonymous SNV H54P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 195404 chr7 30702439 30702439 T C CRHR2 Nonsynonymous SNV I189V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.93 195405 chr13 113795320 113795320 G A rs370999670 F10 Nonsynonymous SNV R153H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.785 195406 chr1 12335925 12335925 G A rs748649444 VPS13D Synonymous SNV E760E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.965 195407 chr1 12638804 12638804 C T rs200434720 DHRS3 Nonsynonymous SNV A129T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.52 195408 chr13 20716736 20716736 T C rs765247252 GJA3 Nonsynonymous SNV K231R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 195409 chr8 143599512 143599512 C T rs201540815 ADGRB1 Nonsynonymous SNV A944V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 195410 chr7 44147299 44147299 T C rs141311453 AEBP1 Nonsynonymous SNV F247L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 195411 chr1 79403899 79403899 A C rs192616187 ADGRL4 Synonymous SNV L154L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.35 195412 chr7 44268407 44268407 G A CAMK2B Synonymous SNV L486L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.83 195413 chr1 229462625 229462625 C T rs35006651 CCSAP Nonsynonymous SNV A166T 0.005 0 0.003 0 6 0 0 1 0 0 0 0 3.733 195414 chr13 30066824 30066824 G A rs774560075 MTUS2 Nonsynonymous SNV E162K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 195415 chr1 27700483 27700483 C T rs779528863 FCN3 Nonsynonymous SNV G69S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 195416 chr1 29630464 29630464 G T rs141680370 PTPRU Synonymous SNV G858G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 11.36 195417 chr13 36049545 36049545 C G rs45556438 MAB21L1 Nonsynonymous SNV G244A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 195418 chr8 144940811 144940811 C T rs566710281 EPPK1 Nonsynonymous SNV R2204Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.607 195419 chr7 65547390 65547390 G C rs774204716 ASL Synonymous SNV L81L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.037 195420 chr8 145621703 145621703 C T CPSF1 Nonsynonymous SNV G947S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 195421 chr13 51826402 51826402 C T FAM124A Nonsynonymous SNV T300I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.168 195422 chr15 90628244 90628244 T C rs749134763 IDH2 Synonymous SNV Q259Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 195423 chr7 77003410 77003411 AG - rs764923116 GSAP L68Vfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 195424 chr8 145999658 145999658 G C rs149062206 ZNF34 Nonsynonymous SNV R186G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.27 195425 chr1 169437971 169437971 A G rs781443514 SLC19A2 Synonymous SNV Y177Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.153 195426 chr13 76379708 76379708 A G rs780968712 LMO7 Synonymous SNV A103A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.515 195427 chr20 1145102 1145102 T C rs574204066 PSMF1 Nonsynonymous SNV I161T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.45 195428 chr7 87795249 87795249 C G ADAM22 Nonsynonymous SNV L726V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 195429 chr1 1562548 1562548 A G rs143944834 MIB2 Synonymous SNV A495A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.032 195430 chr20 13709112 13709112 C A rs777524988 ESF1 Nonsynonymous SNV A651S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 21.7 195431 chr9 2641416 2641416 C G VLDLR Nonsynonymous SNV A122G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.09 195432 chr7 92062598 92062598 G A rs541901832 TMBIM7P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.428 195433 chr14 100995428 100995428 C T rs747756379 WDR25 Synonymous SNV L174L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 195434 chr14 101005175 101005175 C G rs756246934 BEGAIN Nonsynonymous SNV A305P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 195435 chr1 248344164 248344164 C T rs139377253 OR2M2 Nonsynonymous SNV R293C 0.004 0 0 0 5 0 0 0 0 0 0 0 16.62 195436 chr7 99688950 99688950 G T rs746754782 COPS6 Nonsynonymous SNV A247S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.652 195437 chr16 1388959 1388959 G C BAIAP3 Nonsynonymous SNV G63A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.607 195438 chr7 99987615 99987615 T C rs759805404 PILRA Nonsynonymous SNV S187P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 195439 chr7 100088150 100088150 C T rs532650482 NYAP1 Synonymous SNV D652D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.761 195440 chr1 181058178 181058178 A G IER5 Nonsynonymous SNV Y47C 0.002 0.008 0 0 2 3 0 0 0 0 0 0 25.3 195441 chr9 35740973 35740973 C T rs984394650 GBA2 Nonsynonymous SNV R292Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.97 195442 chr20 31386361 31386361 C T rs767169378 DNMT3B Nonsynonymous SNV P433L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.3 195443 chr16 20360023 20360023 G A UMOD Synonymous SNV R200R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.78 195444 chr9 72365841 72365841 G A rs753502633 PTAR1 Nonsynonymous SNV P38S 0 0 0 1 0 0 0.003 0 0 0 0 0 27 195445 chr1 192627430 192627430 G A RGS13 Nonsynonymous SNV R76Q 0 0.013 0 0 0 5 0 0 0 0 0 0 12.44 195446 chr14 21816432 21816432 G A rs34725281 RPGRIP1 Nonsynonymous SNV G1240E 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Benign/Likely benign 23.1 195447 chr20 34091523 34091523 C G CEP250 Nonsynonymous SNV R1144G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 195448 chr1 198711415 198711415 C A rs947670437 PTPRC Synonymous SNV G711G 0.001 0.013 0 0 1 5 0 0 0 0 0 0 19.27 195449 chr1 200378801 200378801 G A rs768330782 ZNF281 Synonymous SNV G11G 0.003 0.013 0 0 4 5 0 0 0 0 0 0 10.71 195450 chr1 200867558 200867558 C T rs139759344 INAVA Synonymous SNV T10T 0 0.008 0 0 0 3 0 0 0 0 0 0 18.83 195451 chr14 24534215 24534215 G A rs780873026 CARMIL3 Synonymous SNV P1043P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 195452 chr1 67591524 67591524 C T C1orf141 Synonymous SNV L48L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.62 195453 chr1 171510055 171510055 A G rs149417027 PRRC2C Nonsynonymous SNV I1148M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.043 195454 chr1 36367855 36367855 A G AGO1 Synonymous SNV K363K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.007 195455 chr9 96080243 96080243 G A rs369158903 WNK2 Synonymous SNV P2276P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.604 195456 chr7 107329527 107329527 G A rs763520093 SLC26A4 Nonsynonymous SNV S344N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.912 195457 chr1 17552562 17552562 C T rs749108583 PADI1 Synonymous SNV C187C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.316 195458 chr1 84961971 84961971 G A RPF1 Nonsynonymous SNV G309E 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 195459 chr1 40960827 40960827 T A rs150232367 ZFP69 Nonsynonymous SNV F227Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.03 195460 chr1 85422145 85422145 C T rs115579876 MCOLN2 Synonymous SNV E178E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.57 195461 chr20 46331347 46331347 G A rs115939360 SULF2 Synonymous SNV V161V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.71 195462 chr14 52481154 52481154 G C NID2 Nonsynonymous SNV P1091A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 195463 chr1 207513949 207513949 G A rs28738991 CD55 Nonsynonymous SNV R432H 0.001 0.013 0.003 0 1 5 0 1 0 0 0 0 0.412 195464 chr1 42630365 42630365 A G GUCA2A Nonsynonymous SNV S7P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.355 195465 chr1 207648494 207648494 T C rs1143665 CR2 Synonymous SNV G824G 0.001 0.013 0.003 0 1 5 0 1 0 0 0 0 Benign 0.785 195466 chr1 208255792 208255792 C G PLXNA2 Nonsynonymous SNV G787A 0.001 0.013 0 2 1 5 0.005 0 0 0 0 0 23.8 195467 chr7 127978385 127978385 G C RBM28 Nonsynonymous SNV R154G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 195468 chr9 112899285 112899285 G C rs754522576 PALM2AKAP2 Nonsynonymous SNV E345D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 195469 chr20 50721716 50721716 G T ZFP64 Nonsynonymous SNV R21S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.7 195470 chr1 91784709 91784709 A G rs761908956 HFM1 Nonsynonymous SNV L913S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 195471 chr14 63920375 63920376 AA - rs765007966 PPP2R5E L129Kfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 195472 chr14 64066507 64066507 T C rs145676848 WDR89 Nonsynonymous SNV I52V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.081 195473 chr16 54967120 54967120 G C rs559431980 IRX5 Nonsynonymous SNV A262P 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Likely benign 0.103 195474 chr1 185270251 185270251 T A IVNS1ABP Nonsynonymous SNV S325C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 195475 chr1 185270252 185270252 C A IVNS1ABP Nonsynonymous SNV Q324H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.88 195476 chr9 116930574 116930574 G A rs144068722 COL27A1 Nonsynonymous SNV G247R 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 9.867 195477 chr1 50661416 50661416 G A ELAVL4 Nonsynonymous SNV R231Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 195478 chr1 186901973 186901973 T C rs200264649 PLA2G4A Nonsynonymous SNV Y153H 0.003 0 0.007 0 4 0 0 2 0 0 0 0 23 195479 chr1 52937652 52937652 T C rs573275538 TUT4 Nonsynonymous SNV I950M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 195480 chr20 60448938 60448938 G A rs78133836 CDH4 Synonymous SNV A307A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 9.793 195481 chr9 117835900 117835900 G A rs139280264 TNC Nonsynonymous SNV R1066C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.8 195482 chr14 71199511 71199511 C T rs780482958 MAP3K9 Nonsynonymous SNV V592M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 195483 chr14 71576242 71576242 G A rs753263653 PCNX1 Nonsynonymous SNV G2162E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 195484 chr1 1960588 1960588 C T rs150097692 GABRD Nonsynonymous SNV R244W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 34 195485 chr16 58577485 58577485 C T rs201673405 CNOT1 Nonsynonymous SNV R1487K 0 0 0 2 0 0 0.005 0 0 0 0 0 5.8 195486 chr2 8931353 8931353 T C rs200221760 KIDINS220 Synonymous SNV R427R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 12 195487 chr1 109810243 109810243 C T rs765430620 CELSR2 Synonymous SNV T2029T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.5 195488 chr1 57411684 57411684 C T rs754717773 C8B Synonymous SNV K305K 0.001 0 0 0 1 0 0 0 0 0 0 0 15 195489 chr16 68265276 68265276 G A rs779561626 ESRP2 Nonsynonymous SNV R516W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 33 195490 chr1 111441766 111441766 A G rs368760369 CD53 Synonymous SNV A144A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.501 195491 chr14 77808231 77808231 G A rs746097224 TMED8 Synonymous SNV D292D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 195492 chr7 149557671 149557671 A G rs759084018 ZNF862 Synonymous SNV P474P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.555 195493 chr14 81862413 81862413 C T rs201098551 STON2 Synonymous SNV S66S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 195494 chr20 825761 825761 A C rs148342701 FAM110A Nonsynonymous SNV D105A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.95 195495 chr1 6638925 6638925 C T rs41278022 TAS1R1 Nonsynonymous SNV R349C 0.005 0.008 0.007 1 6 3 0.003 2 0 0 0 0 Benign 25.1 195496 chr9 130206763 130206763 G A rs767030399 ZNF79 Nonsynonymous SNV A128T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 195497 chr1 116941302 116941302 A G rs141191828 ATP1A1 Synonymous SNV A728A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.933 195498 chr7 150932292 150932292 G A rs143186064 CHPF2 Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 195499 chr1 67672631 67672631 A G rs778411499 IL23R Nonsynonymous SNV I231V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 195500 chr7 151845869 151845869 T C rs763456325 KMT2C Synonymous SNV E4381E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.782 195501 chr21 22656658 22656658 G A rs370033455 NCAM2 Nonsynonymous SNV R92H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 195502 chr14 96706899 96706899 C T rs146975044 BDKRB2 Synonymous SNV V78V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.19 195503 chr1 2340147 2340147 T C rs778031802 PEX10 Nonsynonymous SNV Q115R 0.001 0.01 0 0 1 4 0 0 0 0 0 0 4.175 195504 chr14 96792031 96792031 T G rs749803307 ATG2B Nonsynonymous SNV T798P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.6 195505 chr1 2343915 2343915 - G PEX10 Frameshift insertion E10Gfs*41 0 0.003 0 0 0 1 0 0 0 0 0 0 195506 chr8 1877598 1877598 C T rs374521216 ARHGEF10 Nonsynonymous SNV A985V 0.001 0 0 0 1 0 0 0 0 0 0 0 16 195507 chr1 235318305 235318305 T C rs199826982 RBM34 Nonsynonymous SNV D163G 0.004 0.016 0 0 5 6 0 0 0 0 0 0 0.881 195508 chr20 33609104 33609104 C T rs555095334 TRPC4AP Synonymous SNV T369T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.34 195509 chr1 86961211 86961211 G A rs763913805 CLCA1 Nonsynonymous SNV G656S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 195510 chr15 25427395 25427395 G A rs145371358 SNHG14 0 0 0.034 0 0 0 0 10 0 0 0 0 0.815 195511 chr15 29967574 29967575 CG - rs142856452 LOC100130111 0 0 0.01 0 0 0 0 3 0 0 0 0 195512 chr8 9634220 9634220 G A rs376965971 TNKS Nonsynonymous SNV A1320T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.84 195513 chr8 10464612 10464612 C T rs747379325 RP1L1 Synonymous SNV G2332G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.636 195514 chr1 241757989 241757989 C T rs138406816 OPN3 Nonsynonymous SNV R317Q 0.002 0.013 0 0 2 5 0 0 0 0 0 0 26.4 195515 chr15 34396115 34396115 C T PGBD4 Synonymous SNV H461H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 195516 chr20 39690119 39690119 G A rs35905808 TOP1 Synonymous SNV K48K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.55 195517 chr9 136333818 136333818 G A rs180905434 CACFD1 Synonymous SNV L187L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.847 195518 chr8 12956898 12956898 - TTTCCGGGATCTCGGAGGGCT rs748115915 DLC1 E471_R472insKPSEIPE 0.001 0 0 0 1 0 0 0 0 0 0 0 195519 chr9 139369831 139369831 G A rs369787385 SEC16A Nonsynonymous SNV A746V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.7 195520 chr1 977517 977517 C A AGRN Synonymous SNV I453I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 195521 chr9 139399484 139399484 C A NOTCH1 Nonsynonymous SNV E1553D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 195522 chr9 139400268 139400268 G A rs745455844 NOTCH1 Synonymous SNV G1360G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.825 195523 chr16 88923564 88923564 G A rs780534219 TRAPPC2L Synonymous SNV A2A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.15 195524 chr9 140115404 140115404 C T rs200012061 RNF208 Synonymous SNV G87G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.063 195525 chr8 23152310 23152310 G A rs117222031 R3HCC1 Synonymous SNV S375S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.08 195526 chr20 56083707 56083707 C T rs145270601 CTCFL Synonymous SNV P399P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.79 195527 chr9 140357966 140357966 C T rs141633875 PNPLA7 Nonsynonymous SNV V1057M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 195528 chr15 45444531 45444531 G C DUOX1 Nonsynonymous SNV V1081L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 195529 chr22 18364065 18364065 C T rs199779149 MICAL3 Nonsynonymous SNV R749Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 20.7 195530 chr8 28574692 28574692 C T rs142915974 EXTL3 Synonymous SNV P372P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 5.169 195531 chr15 52342232 52342232 C G MAPK6 Nonsynonymous SNV P200A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 195532 chr22 20103827 20103827 G A rs144774720 RANBP1, TRMT2A Synonymous SNV A40A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.24 195533 chr20 60774192 60774192 C T rs370874974 MTG2 Synonymous SNV A235A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.97 195534 chr1 31206746 31206746 C T rs145384305 LAPTM5 Nonsynonymous SNV E240K 0.003 0.01 0 0 4 4 0 0 0 0 0 0 34 195535 chr1 233515049 233515049 G A rs200336839 MAP3K21 Nonsynonymous SNV R766Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 195536 chr8 41519453 41519453 G T ANK1 Nonsynonymous SNV R104S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 195537 chr1 32042826 32042826 G A rs780110506 TINAGL1 Nonsynonymous SNV R26H 0 0.008 0 0 0 3 0 0 0 0 0 0 25.8 195538 chr20 60927127 60927127 C T rs763890097 LAMA5 Synonymous SNV V232V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 195539 chr10 15831301 15831301 C T rs370670311 MINDY3 Nonsynonymous SNV D152N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 195540 chr8 67988721 67988721 A G rs200158932 CSPP1 Nonsynonymous SNV K35R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.36 195541 chr1 160650957 160650957 - TG rs769470674 CD48 Frameshift insertion Q229Hfs*71 0.003 0.003 0 0 3 1 0 0 0 0 0 0 195542 chr20 34828125 34828125 G A AAR2 Nonsynonymous SNV R112K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 195543 chr15 72030141 72030141 C A rs200317870 THSD4 Nonsynonymous SNV N207K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 195544 chr8 87424055 87424055 C G rs377083766 WWP1 Nonsynonymous SNV P338R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 195545 chr20 36718150 36718150 G A rs754639600 RPRD1B Nonsynonymous SNV R285Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 195546 chr20 36956010 36956010 G A rs373213999 BPI Synonymous SNV E394E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.468 195547 chr20 37634909 37634909 G C rs147101334 DHX35 Nonsynonymous SNV V347L 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 24.1 195548 chr15 78837262 78837262 G A rs11551774 PSMA4 Synonymous SNV A42A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.19 195549 chr8 103307963 103307963 C T UBR5 Nonsynonymous SNV C1238Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 195550 chr15 78921602 78921602 G A rs56235003 CHRNB4 Nonsynonymous SNV R349C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 29.9 195551 chr10 44053305 44053305 G A ZNF239 Stop gain Q75X 0 0 0 1 0 0 0.003 0 0 0 0 0 31 195552 chr22 37329874 37329874 G A rs774353624 CSF2RB Nonsynonymous SNV D385N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.47 195553 chr10 45495863 45495863 G T rs148841346 C10orf25 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 195554 chr22 38111792 38111794 AGG - TRIOBP E163del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 195555 chr22 40662166 40662166 G A rs762080237 TNRC6B Synonymous SNV G644G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.877 195556 chr20 45718008 45718008 C T EYA2 Synonymous SNV D264D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 195557 chr8 124663978 124663978 G A rs201299453 KLHL38 Nonsynonymous SNV L397F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 195558 chr22 41735144 41735146 CTC - ZC3H7B F255_S256delinsL 0 0.003 0 0 0 1 0 0 0 0 0 0 195559 chr20 55909842 55909842 A G rs137997364 SPO11 Nonsynonymous SNV R145G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.116 195560 chr20 56140619 56140619 G A rs373324803 PCK1 Nonsynonymous SNV R543Q 0.001 0 0 0 1 0 0 0 0 0 0 0 30 195561 chr1 63009344 63009344 G A rs750049987 DOCK7 Nonsynonymous SNV R947C 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 34 195562 chr17 37883141 37883141 G A rs140272156 ERBB2 Nonsynonymous SNV G1015E 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 10.64 195563 chr10 73377103 73377103 G A CDH23 Nonsynonymous SNV V363I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 195564 chr1 6638842 6638842 - GCT rs745439007 TAS1R1 L328_G329insL 0.001 0.005 0 0 1 2 0 0 0 0 0 0 195565 chr17 38975251 38975328 GCCGCCGCCGGAGCTTCCGCCGCCGGAGCTTCCGCCTCCGTAGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG - KRT10 H487_G512del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 195566 chr10 73826685 73826685 C T rs749783237 SPOCK2 Synonymous SNV E301E 0 0 0 2 0 0 0.005 0 0 0 0 0 12.92 195567 chr22 51154141 51154141 G A rs117066889 SHANK3 Synonymous SNV P831P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.408 195568 chr16 18847508 18847508 C T rs201763063 SMG1 Nonsynonymous SNV A2602T 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 195569 chr20 62195635 62195635 C T rs747764389 HELZ2 Nonsynonymous SNV G945S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 195570 chr8 145694949 145694949 C T rs144282792 KIFC2 Synonymous SNV G433G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.69 195571 chr10 88476135 88476158 CCTACACCCCCTCCCCTGCCCCTG - rs397517209 LDB3 A379_P386del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 195572 chr16 19547887 19547887 A G rs778089923 CCP110 Nonsynonymous SNV N299S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 195573 chr8 145738441 145738441 G A rs200114521 RECQL4 Synonymous SNV R848R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.287 195574 chr2 10188246 10188246 C T rs148123124 KLF11 Nonsynonymous SNV P244L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 17.95 195575 chr22 21096571 21096571 G A rs762459684 PI4KA Nonsynonymous SNV T1198M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 195576 chr22 21212896 21212896 G A PI4KA Nonsynonymous SNV R40C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 195577 chr17 39593700 39593719 GGGCCCACAGGTGGTGCAGG - rs776403446 KRT38 P439Hfs*22 0.002 0 0 2 2 0 0.005 0 0 0 0 0 195578 chr8 146114979 146114979 C T rs750221646 ZNF250 Stop gain W90X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 195579 chr16 20975290 20975290 A G rs764559347 DNAH3 Nonsynonymous SNV F3260L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.4 195580 chr1 41978924 41978924 T G HIVEP3 Nonsynonymous SNV N1990H 0.003 0 0 0 3 0 0 0 0 0 0 0 20.3 195581 chr10 94333764 94333764 G - rs533083105 IDE Stop gain L5* 0 0 0.003 1 0 0 0.003 1 0 0 0 0 195582 chr10 96824566 96824566 T C CYP2C8 Synonymous SNV P109P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.212 195583 chr16 24372995 24372995 C T rs369770246 CACNG3 Synonymous SNV G253G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.72 195584 chr16 2511083 2511083 C T TEDC2 Nonsynonymous SNV R155C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 195585 chr1 915023 915023 G C PERM1 Nonsynonymous SNV R463G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.46 195586 chr1 9165566 9165566 C T rs151260225 GPR157 Synonymous SNV T257T 0.005 0.01 0 0 6 4 0 0 1 0 0 0 9.299 195587 chr1 92801938 92801938 T C rs751369687 RPAP2 Synonymous SNV L525L 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 5.79 195588 chr9 17394990 17394990 C T rs753929263 CNTLN Synonymous SNV L846L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.218 195589 chr9 18635986 18635986 G A rs201225408 ADAMTSL1 Nonsynonymous SNV R216H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 195590 chr2 120306719 120306719 T G rs749010346 CFAP221 Nonsynonymous SNV H66Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 195591 chr17 41582124 41582124 G A rs149167189 DHX8 Synonymous SNV K462K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.64 195592 chr22 30769829 30769829 T G KIAA1656 0.002 0 0 0 2 0 0 0 0 0 0 0 1.562 195593 chr21 37612248 37612248 C T rs7278340 DOP1B Nonsynonymous SNV S1021L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.7 195594 chr22 31328540 31328540 C T rs751197811 MORC2 Synonymous SNV Q913Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.654 195595 chr2 136678082 136678082 G A rs200897445 DARS1 Synonymous SNV H200H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.776 195596 chr16 4387370 4387370 C T rs779581418 GLIS2 Nonsynonymous SNV R474W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 195597 chr16 46534637 46534637 A T rs144283627 ANKRD26P1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.199 195598 chr2 159517919 159517919 A G rs150425961 PKP4 Nonsynonymous SNV Y723C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 195599 chr9 77416864 77416864 C A rs553896639 TRPM6 Nonsynonymous SNV K648N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 195600 chr9 78942991 78942991 T G rs777224109 PCSK5 Nonsynonymous SNV I1442S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 195601 chr22 41545151 41545151 C T rs201480900 EP300 Nonsynonymous SNV P758L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 23.2 195602 chr16 56227933 56227933 G A rs113938077 DKFZP434H168 0 0 0.007 0 0 0 0 2 0 0 0 0 11.9 195603 chr16 56397856 56397856 G A rs76955156 AMFR Synonymous SNV D587D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.991 195604 chr16 56533706 56533706 G A rs16957538 BBS2 Nonsynonymous SNV A504V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19.82 195605 chr9 79323953 79323953 G A rs188705736 PRUNE2 Synonymous SNV Y1079Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.733 195606 chr9 85615091 85615091 G A rs114266938 RASEF Synonymous SNV A572A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.844 195607 chr9 85615362 85615362 C T rs77070682 RASEF Nonsynonymous SNV A521T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 195608 chr22 43089679 43089679 C A A4GALT Synonymous SNV L93L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.98 195609 chr21 47551934 47551934 G A rs201736323 COL6A2 Nonsynonymous SNV R843Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 195610 chr16 57718060 57718060 C T rs76894559 ADGRG3 Synonymous SNV L246L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.36 195611 chr21 47705167 47705167 G A rs758793845 MCM3AP Nonsynonymous SNV P12S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.96 195612 chr16 57789938 57789938 C T rs113265906 KATNB1 Synonymous SNV L560L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.27 195613 chr16 57798094 57798094 C T rs113233871 KIFC3 Synonymous SNV A424A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.3 195614 chr10 126631726 126631726 C T rs372066172 ZRANB1 Nonsynonymous SNV R222W 0 0 0 2 0 0 0.005 0 0 0 0 0 28.3 195615 chr2 170917616 170917616 G A rs531175006 UBR3 Nonsynonymous SNV E1605K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.3 195616 chr22 19241557 19241557 C T CLTCL1 Synonymous SNV L148L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.713 195617 chr20 33575036 33575036 A G rs200379759 MYH7B Nonsynonymous SNV M407V 0 0.008 0 0 0 3 0 0 0 0 0 0 25.1 195618 chr9 100843194 100843194 G A rs142834890 NANS Nonsynonymous SNV V234M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 195619 chr1 230979100 230979100 C T rs146800823 C1orf198 Synonymous SNV Q179Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.794 195620 chr22 20760494 20760494 G A ZNF74 Nonsynonymous SNV G320S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 195621 chr9 101782725 101782725 G T rs139218633 COL15A1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.423 195622 chr22 50617408 50617408 C G rs763029444 PANX2 Nonsynonymous SNV A579G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.15 195623 chr10 134623978 134623978 C G rs765970549 CFAP46 Nonsynonymous SNV W2533C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 195624 chr16 70697927 70697927 C G rs144544231 MTSS2 Nonsynonymous SNV A633P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 195625 chr10 135032400 135032400 C T rs139504552 KNDC1 Synonymous SNV F1581F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 195626 chr16 71893976 71893976 C T ZNF821 Nonsynonymous SNV S353N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 195627 chr20 36676777 36676777 T A rs750344460 RPRD1B Synonymous SNV P103P 0.003 0.008 0 0 3 3 0 0 0 0 0 0 5.966 195628 chr11 400124 400124 C G rs139128100 PKP3 Nonsynonymous SNV N477K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 195629 chr4 140811067 140811069 TGC - MAML3 Q510del 0.001 0 0 0 1 0 0 0 0 0 0 0 195630 chr22 28193258 28193258 C T rs771925230 MN1 Nonsynonymous SNV G1092R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 195631 chr16 83948848 83948848 C T rs370278897 MLYCD Synonymous SNV R412R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.26 195632 chr20 44485952 44485952 - ATCT rs201025211 ACOT8 Star tloss M1? 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 195633 chr22 30660451 30660451 T A rs201822053 OSM Synonymous SNV I39I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.268 195634 chr4 154523768 154523768 G A rs755058593 TMEM131L Nonsynonymous SNV R843H 0.003 0 0 0 3 0 0 0 0 0 0 0 8.921 195635 chr2 191235808 191235808 A C rs778874532 INPP1 Nonsynonymous SNV S294R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 195636 chr20 50049285 50049285 T C rs761977455 NFATC2 Nonsynonymous SNV I661V 0 0.013 0 0 0 5 0 0 0 0 0 0 20.2 195637 chr17 73235548 73235548 T C rs199832719 GGA3 Nonsynonymous SNV Q441R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.17 195638 chr17 73235549 73235549 G C rs200503191 GGA3 Nonsynonymous SNV Q441E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.203 195639 chr2 201440184 201440187 AGTA - rs760259700 SGO2 T1259Qfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 195640 chr2 202957848 202957848 T C rs188532127 KIAA2012 Nonsynonymous SNV Y209H 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 26 195641 chr2 203991332 203991332 T C NBEAL1 Nonsynonymous SNV I984T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 195642 chr9 129870384 129870384 C T rs545862218 ANGPTL2 Synonymous SNV S209S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.761 195643 chr2 133539679 133539679 T A rs147016733 NCKAP5 Nonsynonymous SNV I1569F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 195644 chr2 135676441 135676441 G C rs764269176 CCNT2 Nonsynonymous SNV G6A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.85 195645 chr22 38478804 38478804 A G rs76230437 SLC16A8 Nonsynonymous SNV F26S 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 31 195646 chr2 136627884 136627884 C T rs566522057 MCM6 Nonsynonymous SNV R101H 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 195647 chr2 140990879 140990879 T C rs148848707 LRP1B Nonsynonymous SNV N4559S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 195648 chr20 60966482 60966482 C T rs768069567 CABLES2 Synonymous SNV S373S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 13.45 195649 chr2 210742714 210742714 G C rs187089611 UNC80 Nonsynonymous SNV E1293Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 195650 chr9 131669842 131669842 G A rs778279829 LRRC8A Synonymous SNV T133T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.708 195651 chr20 61050535 61050535 C A GATA5 Nonsynonymous SNV A15S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.03 195652 chr22 41997175 41997175 G A rs770814598 DESI1 Nonsynonymous SNV R145W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 195653 chr2 21230249 21230249 G A rs143269114 APOB Nonsynonymous SNV T3164M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.8 195654 chr22 42609533 42609533 G A rs747973136 TCF20 Synonymous SNV S593S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.009 195655 chr2 21360824 21360824 T G rs144517362 TDRD15 Nonsynonymous SNV L162R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.043 195656 chr11 1780810 1780810 G A rs778220078 CTSD Synonymous SNV F96F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.11 195657 chr22 44280193 44280193 G A rs149836456 PNPLA5 Nonsynonymous SNV R214W 0.001 0 0 0 1 0 0 0 0 0 0 0 8.205 195658 chr11 1972219 1972219 C T rs765490130 MRPL23 Synonymous SNV P36P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.27 195659 chr17 18022116 18022116 T C MYO15A Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 195660 chr9 135553690 135553690 C A rs763914568 GTF3C4 Synonymous SNV A228A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 195661 chr22 46742350 46742350 A G rs144586525 TRMU Nonsynonymous SNV Q9R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 9.265 195662 chr9 137694741 137694741 C T rs201220311 COL5A1 Nonsynonymous SNV T1005M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 195663 chr22 50471770 50471770 G A rs575492422 TTLL8 Nonsynonymous SNV P398S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 195664 chr22 50596500 50596500 G A rs542311382 MOV10L1 Synonymous SNV R154R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.682 195665 chr2 220499233 220499233 G A rs138294583 SLC4A3 Synonymous SNV P578P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.567 195666 chr9 139913476 139913476 A G ABCA2 Nonsynonymous SNV L534P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.552 195667 chr2 179435887 179435887 A G rs744427 TTN Nonsynonymous SNV I15926T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 11.35 195668 chr17 26912611 26912611 G T rs764887028 SPAG5 Nonsynonymous SNV Q601K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.546 195669 chr17 27185443 27185443 C A rs748721019 ERAL1 Nonsynonymous SNV P216H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 195670 chr21 38877837 38877837 C T rs541193560 DYRK1A Synonymous SNV P459P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.06 195671 chr21 38884540 38884540 G A rs755724183 DYRK1A Synonymous SNV S628S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.149 195672 chr2 231775515 231775515 C T rs774169195 GPR55 Nonsynonymous SNV D55N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.4 195673 chr1 40922701 40922701 C T rs368207124 ZFP69B Nonsynonymous SNV R100W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 195674 chr2 232325430 232325432 TCA - rs535807736 NCL D253del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 195675 chr17 34235408 34235408 C T rs80141289 LRRC37A8P 0 0 0.02 0 0 0 0 6 0 0 0 0 3.244 195676 chr2 108875283 108875283 A G rs755357488 SULT1C3 Nonsynonymous SNV K207R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.295 195677 chr10 6002469 6002469 C G rs780936797 IL15RA Synonymous SNV P79P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 195678 chr1 45120521 45120521 C T rs201491435 TMEM53 Nonsynonymous SNV V109I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.199 195679 chr2 238287332 238287332 G T rs199601240 COL6A3 Nonsynonymous SNV P408H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.2 195680 chr2 113949973 113949973 C T rs746737911 PSD4 Nonsynonymous SNV P549S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 195681 chr21 46067187 46067187 C T rs369444628 KRTAP10-11 Nonsynonymous SNV A271V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.6 195682 chr2 120012349 120012349 G A rs747987047 STEAP3 Synonymous SNV T370T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 195683 chr10 18439867 18439867 C T rs762092636 CACNB2 Nonsynonymous SNV T31M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 195684 chr10 19493921 19493921 A C rs772542193 MALRD1 Nonsynonymous SNV N769H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 195685 chr2 241530275 241530275 G A rs771900528 CAPN10 Nonsynonymous SNV R106Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.43 195686 chr11 6635816 6635816 G C rs372564255 TPP1 Synonymous SNV P551P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.721 195687 chr2 128397000 128397000 G T rs149101001 LIMS2 Nonsynonymous SNV N142K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 195688 chr2 128399649 128399649 G A rs138275119 LIMS2 Nonsynonymous SNV A60V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 195689 chr10 25464596 25464596 G A rs147366412 GPR158 Nonsynonymous SNV A83T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.409 195690 chr10 27692279 27692279 A G rs2484180 PTCHD3 Nonsynonymous SNV C407R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.154 195691 chr10 28030409 28030409 C T rs754961505 MKX Synonymous SNV V71V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 195692 chr2 25965095 25965095 G T rs115221221 ASXL2 Nonsynonymous SNV Q1111K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 23.7 195693 chr2 26152271 26152271 C T rs776637487 KIF3C Nonsynonymous SNV E731K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 195694 chr2 141819666 141819666 A G rs751417550 LRP1B Nonsynonymous SNV V397A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 195695 chr17 39981852 39981852 C T NT5C3B Nonsynonymous SNV E276K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 195696 chr10 45499378 45499378 G A rs151292871 ZNF22 Nonsynonymous SNV V188M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 195697 chr2 219511025 219511025 G A rs759205136 ZNF142 Synonymous SNV D440D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 11.65 195698 chr2 220285273 220285273 C T rs150370918 DES Synonymous SNV D264D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15.28 195699 chr22 26166902 26166902 T A rs201482451 MYO18B Nonsynonymous SNV I548N 0 0.01 0 0 0 4 0 0 0 0 0 0 24 195700 chr2 31401419 31401419 G C rs202203372 CAPN14 Nonsynonymous SNV I579M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 195701 chr17 42824818 42824818 G A rs748943511 DBF4B Synonymous SNV V333V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.282 195702 chr2 32417463 32417463 G A rs147180381 SLC30A6 Nonsynonymous SNV A41T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 195703 chr11 18636797 18636797 T C SPTY2D1 Nonsynonymous SNV K342E 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 195704 chr22 28194934 28194939 TGCTGC - MN1 Q549_Q550del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 195705 chr17 4575152 4575152 G A rs200800513 PELP1 Nonsynonymous SNV A1045V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.839 195706 chr2 37450393 37450393 A T rs144800928 CEBPZ Nonsynonymous SNV F601I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 195707 chr17 45776808 45776808 G A rs372740764 TBKBP1 Nonsynonymous SNV E253K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 195708 chr21 34123308 34123308 T C rs769420502 PAXBP1 Nonsynonymous SNV K548R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 20.8 195709 chr17 46057984 46057984 C T rs186754024 CDK5RAP3 Nonsynonymous SNV A143V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.25 195710 chr2 171070946 171070946 C T rs199776057 MYO3B Nonsynonymous SNV R127W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 195711 chr5 110784879 110784879 A G rs868512044 CAMK4 Synonymous SNV V4V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.012 195712 chr2 171627332 171627332 C A ERICH2 Nonsynonymous SNV S47R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 195713 chr11 28045363 28045363 T G rs199512613 KIF18A Nonsynonymous SNV N847H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.357 195714 chr11 30439087 30439087 G A rs139073289 MPPED2 Synonymous SNV L210L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.958 195715 chr22 36556768 36556768 G A rs11089781 APOL3 Stop gain Q58X 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.8 195716 chr5 114610993 114610993 G A CCDC112 Nonsynonymous SNV P280S 0.002 0 0 0 2 0 0 0 0 0 0 0 22 195717 chr22 36696933 36696933 C T MYH9 Synonymous SNV L934L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.6 195718 chr2 179425738 179425738 A T rs777681919 TTN Nonsynonymous SNV V19309D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 195719 chr11 36615705 36615705 A T rs143415103 RAG2 Nonsynonymous SNV M5K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.74 195720 chr5 122426150 122426150 C T rs529022121 PRDM6 Synonymous SNV P147P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.33 195721 chr17 50939750 50939750 A G rs187724115 LINC02089 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 195722 chr2 234749261 234749262 TC - rs774055082 HJURP E637Rfs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 195723 chr2 56098141 56098141 G A rs762143333 EFEMP1 Nonsynonymous SNV P373L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.9 195724 chr11 46400585 46400585 C T rs368223472 DGKZ Synonymous SNV D798D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 195725 chr22 39770441 39770441 G A rs138433500 SYNGR1 Nonsynonymous SNV V74M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 195726 chr5 131307262 131307262 C T rs779755365 ACSL6 Nonsynonymous SNV R372Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 195727 chr2 238289767 238289767 T C rs112913396 COL6A3 Nonsynonymous SNV D156G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 195728 chr11 47354776 47354776 T A rs769925144 MYBPC3 Nonsynonymous SNV Y1100F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.1 195729 chr2 62449644 62449644 G A rs767753065 B3GNT2 Nonsynonymous SNV E97K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.4 195730 chr2 187534483 187534483 G A rs754620384 ITGAV Nonsynonymous SNV R847Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 195731 chr17 56572662 56572662 G A rs753285375 MTMR4 Synonymous SNV P947P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.316 195732 chr2 239072623 239072623 C T rs529021529 ERFE Nonsynonymous SNV L224F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 195733 chr10 81373765 81373765 G A SFTPA1 Nonsynonymous SNV E215K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 195734 chr11 48267337 48267337 G A rs762963105 OR4X2 Nonsynonymous SNV A228T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 195735 chr17 57058042 57058042 T C rs199649187 PPM1E Nonsynonymous SNV Y640H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 195736 chr10 81838760 81838760 C T rs766087287 TMEM254-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.66 195737 chr17 57816285 57816285 C A VMP1 Nonsynonymous SNV L34M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 195738 chr22 43614442 43614442 C T rs202194027 SCUBE1 Synonymous SNV L570L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.7 195739 chr21 44836862 44836862 C T rs773124142 SIK1, SIK1B Synonymous SNV S704S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.21 195740 chr2 24051765 24051765 T C rs945415795 ATAD2B Synonymous SNV P591P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.923 195741 chr19 10897280 10897280 G A rs763894364 DNM2 Nonsynonymous SNV R297H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 195742 chr17 6353736 6353736 C T PIMREG Synonymous SNV S247S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 195743 chr10 96066230 96066230 C T rs58539480 PLCE1 Nonsynonymous SNV P1582L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26 195744 chr10 96094425 96094425 T C rs74708758 NOC3L Nonsynonymous SNV N747S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 195745 chr10 96116958 96116958 T C rs76633367 NOC3L Nonsynonymous SNV I161V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 195746 chr2 20402938 20402938 C T rs78365527 SDC1 Nonsynonymous SNV V225M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 195747 chr17 6683706 6683706 G C FBXO39 Nonsynonymous SNV R173S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 195748 chr2 74907227 74907227 G A rs113159774 SEMA4F Nonsynonymous SNV S580N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.4 195749 chr2 84756179 84756179 G C rs374433871 DNAH6 Nonsynonymous SNV R184P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.492 195750 chr2 27430474 27430474 C T rs192221724 SLC5A6 Synonymous SNV S15S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.86 195751 chr2 84777114 84777114 G A rs148362906 DNAH6 Nonsynonymous SNV R473Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 195752 chr19 1528089 1528089 C T PLK5 Nonsynonymous SNV R53W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 32 195753 chr2 8890322 8890322 C T rs778339888 KIDINS220 Nonsynonymous SNV A1113T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 4.856 195754 chr17 72927025 72927025 C - rs767639440 OTOP2 A432Vfs*62 0 0 0.003 0 0 0 0 1 0 0 0 0 195755 chr2 37041342 37041342 G A rs761598961 VIT Synonymous SNV A604A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.03 195756 chr17 73231284 73231284 C T rs142085095 NUP85 Synonymous SNV T573T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.64 195757 chr19 1625668 1625668 C T TCF3 Nonsynonymous SNV G136R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.6 195758 chr2 99863231 99863231 A G LYG2 Synonymous SNV H32H 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 0.012 195759 chr2 219128083 219128083 C T rs150118963 GPBAR1 Synonymous SNV S212S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 7.211 195760 chr17 73915827 73915827 G A FBF1 Nonsynonymous SNV T687M 0 0 0.003 0 0 0 0 1 0 0 0 0 21 195761 chr2 219540914 219540914 C G STK36 Synonymous SNV P199P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 195762 chr10 112362759 112362759 A G SMC3 Synonymous SNV S1158S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.938 195763 chr2 220104966 220104966 G A rs375717125 GLB1L Nonsynonymous SNV P165S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 195764 chr17 74473048 74473048 T A RHBDF2 Stop gain K327X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 195765 chr10 113935388 113935388 T C rs367554974 GPAM Nonsynonymous SNV N128S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 195766 chr2 127828167 127828167 C T rs774273606 BIN1 Nonsynonymous SNV D93N 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 28.8 195767 chr11 57512213 57512213 A G rs148470181 BTBD18 Nonsynonymous SNV I511T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 195768 chr2 220437291 220437291 G T rs34400751 INHA Synonymous SNV G65G 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 6.287 195769 chr3 113798789 113798789 C T rs138101918 QTRT2 Synonymous SNV L155L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.83 195770 chr10 118352035 118352035 G A rs782755718 PNLIPRP1 Stop gain W104X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 195771 chr19 18576689 18576689 G A rs778489177 ELL Nonsynonymous SNV R75W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 195772 chr2 136396219 136396219 A G R3HDM1 Nonsynonymous SNV D256G 0 0.008 0 0 0 3 0 0 0 0 0 0 23.5 195773 chr10 124378843 124378843 G A rs764620172 DMBT1 Synonymous SNV T988T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.241 195774 chr2 71829924 71829924 A G rs121908954 DYSF Nonsynonymous SNV I1284V 0.005 0 0.003 0 6 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.8 195775 chr2 73215415 73215415 G A SFXN5 Nonsynonymous SNV S56F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.28 195776 chr2 231112715 231112715 A G rs757439768 SP140 Nonsynonymous SNV N250S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 195777 chr2 74274064 74274064 C G rs201715061 TET3 Synonymous SNV S247S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.499 195778 chr3 122121641 122121641 C T rs771553925 FAM162A Synonymous SNV S23S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.52 195779 chr2 231775625 231775625 A - GPR55 L18Rfs*2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 195780 chr17 79095366 79095366 G A rs370499902 AATK Synonymous SNV T687T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.051 195781 chr3 123663814 123663814 T A CCDC14 Nonsynonymous SNV I257F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.11 195782 chr10 134261522 134261522 C T rs776169747 C10orf91 0.001 0 0 0 1 0 0 0 0 0 0 0 8.983 195783 chr17 80393666 80393666 C T rs373838940 HEXD Synonymous SNV S91S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 195784 chr2 160205779 160205779 C T rs34745357 BAZ2B Nonsynonymous SNV V1590I 0.001 0.013 0 0 1 5 0 0 0 0 0 0 13.56 195785 chr17 8092805 8092805 G C rs61736133 BORCS6 Synonymous SNV A218A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 5.081 195786 chr3 126193871 126193871 G T rs528592124 ZXDC Nonsynonymous SNV H280N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.62 195787 chr2 172782137 172782137 T A HAT1 Nonsynonymous SNV I33N 0.001 0.01 0 0 1 4 0 0 0 0 0 0 32 195788 chr22 47193464 47193464 C T TBC1D22A Nonsynonymous SNV A148V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 195789 chr2 242004262 242004262 A G SNED1 Nonsynonymous SNV S868G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 195790 chr11 722411 722411 - CTG rs765291700 EPS8L2 C358_S359insC 0.003 0 0.01 0 3 0 0 3 0 0 0 0 195791 chr2 179468618 179468618 C A rs199837769 TTN Nonsynonymous SNV A9201S 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 195792 chr2 25050773 25050773 G A rs139420185 ADCY3 Synonymous SNV H810H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.019 195793 chr2 25367896 25367896 G C rs775848123 EFR3B Synonymous SNV S671S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.12 195794 chr3 136047691 136047691 C T rs142403318 PCCB Nonsynonymous SNV A497V 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 34 195795 chr2 25678274 25678274 C T rs200296831 DTNB Nonsynonymous SNV R186H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 195796 chr11 66457286 66457286 G T rs750934185 SPTBN2 Nonsynonymous SNV A1980E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 28 195797 chr18 40034930 40034930 T C rs16976135 LINC00907 0 0 0.027 0 0 0 0 8 0 0 0 0 2.091 195798 chr3 121351913 121351913 C A rs199916491 HCLS1 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 195799 chr3 14487290 14487290 A G rs771266868 SLC6A6 Nonsynonymous SNV I99V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.481 195800 chr11 70028677 70028677 G A rs373835880 ANO1 Nonsynonymous SNV G825R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 195801 chr11 70263222 70263222 A G rs770696412 CTTN Synonymous SNV S187S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.221 195802 chr2 29296439 29296439 C T rs781200852 PCARE Nonsynonymous SNV S230N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.159 195803 chr11 73071523 73071523 C T ARHGEF17 Synonymous SNV H1455H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 195804 chr5 65058824 65058824 C T NLN Synonymous SNV S113S 0.003 0 0 0 4 0 0 0 0 0 0 0 15.69 195805 chr19 40363015 40363015 C T FCGBP Nonsynonymous SNV G5019S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.02 195806 chr2 192711323 192711323 G A CAVIN2 Nonsynonymous SNV T110M 0.001 0.01 0 0 1 4 0 0 0 0 0 0 27.8 195807 chr11 77921152 77921152 C T rs200425386 USP35 Nonsynonymous SNV R751W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 195808 chr3 164785203 164785203 T C rs771682590 SI Nonsynonymous SNV D187G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.593 195809 chr3 130282040 130282040 C T rs200502168 COL6A6 Nonsynonymous SNV R65C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 195810 chr2 47136164 47136164 T C rs372989533 MCFD2 Synonymous SNV Q49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 195811 chr18 77926937 77926937 A G rs576414030 PARD6G-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.935 195812 chr2 54850701 54850701 C T rs376550129 SPTBN1 Nonsynonymous SNV R371W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 195813 chr11 3726442 3726442 T A NUP98 Nonsynonymous SNV T977S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.784 195814 chr19 1007878 1007878 C T rs749339005 GRIN3B Nonsynonymous SNV A741V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 195815 chr2 64323671 64323671 T C PELI1 Nonsynonymous SNV D126G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 195816 chr2 64682532 64682532 G A rs145173493 LGALSL Nonsynonymous SNV V31M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.8 195817 chr2 213872300 213872300 C T IKZF2 Synonymous SNV K380K 0.001 0.013 0 6 1 5 0.015 0 0 0 0 0 8.101 195818 chr2 70901865 70901865 G C rs559959816 ADD2 Nonsynonymous SNV D562E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 195819 chr3 186974465 186974465 T C rs28945071 MASP1 Nonsynonymous SNV Y244C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.4 195820 chr11 107686675 107686675 T C rs77580000 SLC35F2 Nonsynonymous SNV I43V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.175 195821 chr3 190374095 190374095 G A rs779778487 IL1RAP Nonsynonymous SNV R588K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.403 195822 chr3 149470010 149470010 G A rs372134103 COMMD2 Synonymous SNV Y44Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.995 195823 chr2 73518944 73518944 T C rs367702367 EGR4 Nonsynonymous SNV T368A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 195824 chr19 11665182 11665182 T C rs140013085 ELOF1 0.001 0 0.01 0 1 0 0 3 0 0 0 0 15.33 195825 chr3 151164521 151164521 C G IGSF10 Nonsynonymous SNV S1083T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.07 195826 chr11 5424191 5424191 T A OR51J1 Nonsynonymous SNV V122D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 195827 chr3 194373698 194373698 T C rs147611903 LSG1 Synonymous SNV P311P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.133 195828 chr19 12244360 12244360 C A rs772391233 ZNF20 Nonsynonymous SNV C211F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.426 195829 chr2 74709291 74709291 C A rs776693653 CCDC142 Nonsynonymous SNV G225V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 195830 chr2 219919936 219919936 C T rs761046773 IHH Nonsynonymous SNV G410E 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 11.83 195831 chr3 158541279 158541279 A G rs771518281 MFSD1 Synonymous SNV V341V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.55 195832 chr11 117030700 117030700 C T rs374728066 PAFAH1B2 Synonymous SNV F44F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.83 195833 chr19 47422847 47422847 C T ARHGAP35 Synonymous SNV Y305Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.375 195834 chr3 160137252 160137252 A G rs766411433 SMC4 Nonsynonymous SNV N593S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.68 195835 chr19 14094354 14094354 C T rs141643042 RFX1 Nonsynonymous SNV A125T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 195836 chr3 197619535 197619535 G A rs144870053 IQCG Synonymous SNV A353A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.3 195837 chr3 197762790 197762790 T A rs778244472 LMLN Nonsynonymous SNV S581R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.64 195838 chr19 14863220 14863236 GAGGTGCTGGTGTTCTG - rs375427337 ADGRE2 Q507Tfs*21 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 195839 chr11 5877986 5877986 T C rs745699418 OR52E8 Nonsynonymous SNV N316S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.039 195840 chr19 1506268 1506268 G A rs201754237 ADAMTSL5 Nonsynonymous SNV R388C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.4 195841 chr11 6190854 6190854 C T rs200992980 OR52B2 Nonsynonymous SNV A235T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 195842 chr11 120924260 120924260 G A rs376267533 TBCEL Nonsynonymous SNV V92I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.15 195843 chr2 97166459 97166459 G T rs927620065 NEURL3 Synonymous SNV R77R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 195844 chr2 98262589 98262589 G A COX5B Nonsynonymous SNV A14T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 195845 chr11 6640433 6640433 C T rs369126677 TPP1 Nonsynonymous SNV R28Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.524 195846 chr19 16872803 16872803 G A rs144054207 NWD1 Nonsynonymous SNV V457M 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 195847 chr2 228883829 228883829 A G rs370444191 SPHKAP Nonsynonymous SNV C581R 0.002 0.013 0 0 2 5 0 0 0 0 0 0 0.011 195848 chr3 10976831 10976831 C T rs138805066 SLC6A11 Synonymous SNV C564C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.24 195849 chr11 126135711 126135711 G A rs75918778 SRPRA Synonymous SNV N325N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.08 195850 chr2 233697641 233697641 G A rs369380236 GIGYF2 Nonsynonymous SNV M862I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.6 195851 chr19 17631866 17631866 C T PGLS Synonymous SNV P251P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 195852 chr3 113321935 113321935 G C rs377190997 SIDT1 Nonsynonymous SNV E339Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 195853 chr2 234229325 234229325 C T rs79922016 SAG Synonymous SNV D77D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.48 195854 chr2 234229344 234229344 C T rs115857633 SAG Nonsynonymous SNV R84C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 195855 chr11 130109721 130109721 C T rs375680633 ZBTB44 Synonymous SNV P363P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 195856 chr19 18174731 18174731 C T rs11575935 IL12RB1 Nonsynonymous SNV A525T 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Benign/Likely benign 12.9 195857 chr2 234591000 234591000 G C rs114052958 UGT1A7 Nonsynonymous SNV E139D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.158 195858 chr3 193855956 193855956 C T rs141702996 HES1 Synonymous SNV N259N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.93 195859 chr12 274980 274980 C T rs782285801 IQSEC3 Synonymous SNV D662D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.405 195860 chr11 11989955 11989955 C T rs760383495 DKK3 Nonsynonymous SNV R172Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 195861 chr11 14501159 14501159 A C COPB1 Nonsynonymous SNV I438M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 195862 chr12 2907907 2907907 G A rs200923951 FKBP4 Synonymous SNV T143T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.592 195863 chr3 30842517 30842517 C A rs61738477 GADL1 Nonsynonymous SNV D372Y 0.003 0 0 0 3 0 0 0 0 0 0 0 33 195864 chr3 31656614 31656614 A G rs141238380 STT3B Nonsynonymous SNV I299V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.98 195865 chr19 32845298 32845298 T C rs113433395 ZNF507 Nonsynonymous SNV I521T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.83 195866 chr12 7522232 7522232 C T rs138733121 CD163L1 Nonsynonymous SNV E1264K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.584 195867 chr19 33444519 33444519 A G rs146108457 CEP89 0 0 0.01 0 0 0 0 3 0 0 0 0 22.7 195868 chr2 242742949 242742949 G A rs769648241 GAL3ST2 Nonsynonymous SNV A189T 0.001 0.01 0 0 1 4 0 0 0 0 0 0 29.7 195869 chr11 24753669 24753669 A G rs147704880 LUZP2 Synonymous SNV L62L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.043 195870 chr11 26584678 26584678 C T rs746575838 MUC15 Nonsynonymous SNV D277N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 195871 chr12 9002778 9002778 T - rs759217676 A2ML1 F224Lfs*52 0 0 0 1 0 0 0.003 0 0 0 0 0 195872 chr11 30942451 30942451 T C rs748551552 DCDC1 Synonymous SNV V162V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.094 195873 chr19 36001096 36001096 T C rs371166861 DMKN Nonsynonymous SNV H39R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 195874 chr11 35513674 35513674 C T rs139122111 PAMR1 Nonsynonymous SNV G100R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.6 195875 chr19 36357373 36357373 G A rs143366792 KIRREL2 Nonsynonymous SNV A563T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.619 195876 chr11 44146484 44146484 C T rs146098187 EXT2 Nonsynonymous SNV R330C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 195877 chr19 55800916 55800916 C T rs200073194 BRSK1 Nonsynonymous SNV T129M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 27.7 195878 chr2 218699832 218699832 T C rs201800226 TNS1 Nonsynonymous SNV S963G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.97 195879 chr12 14927771 14927771 A G rs767138261 H2AJ Nonsynonymous SNV S123G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.75 195880 chr3 9730719 9730719 T C rs148229439 MTMR14 Synonymous SNV Y462Y 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 0.008 195881 chr3 141011863 141011863 G A rs150898568 PXYLP1 Nonsynonymous SNV R420Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 195882 chr19 38948883 38948883 C T rs769623563 RYR1 Synonymous SNV V706V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 18.74 195883 chr22 50591531 50591531 C T rs377228035 MOV10L1 Nonsynonymous SNV R111W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 195884 chr2 45233411 45233411 C T rs150988696 SIX2 Synonymous SNV P258P 0.001 0.013 0 0 1 5 0 0 0 0 0 0 17.53 195885 chr2 222428937 222428937 C T rs745869814 EPHA4 Nonsynonymous SNV G62S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 195886 chr2 53927461 53927461 C T rs776786665 ASB3, GPR75-ASB3 Synonymous SNV L322L 0 0.005 0 0 0 2 0 0 0 0 0 0 10.81 195887 chr19 41086717 41086717 G A rs146931471 SHKBP1 Nonsynonymous SNV R240Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 195888 chr12 32137673 32137673 A G rs1029717758 RESF1 Nonsynonymous SNV T1262A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 195889 chr12 33030851 33030851 G A rs202207343 PKP2 Synonymous SNV V321V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.185 195890 chr2 55523399 55523399 C T rs140794014 CCDC88A Nonsynonymous SNV V1668I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 not provided 11.78 195891 chr11 55340326 55340326 C T rs763408664 OR4C16 Synonymous SNV H241H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.859 195892 chr19 42804365 42804365 C T rs138795115 PAFAH1B3 Synonymous SNV L81L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 195893 chr19 42863270 42863270 C T rs1038902556 MEGF8 Synonymous SNV H1721H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 195894 chr3 169540016 169540016 - AC LRRIQ4 Frameshift insertion N104Tfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 195895 chr12 50467922 50467922 C G rs562793859 ASIC1 Synonymous SNV P185P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 195896 chr19 7505272 7505272 G A rs903675524 ARHGEF18 Nonsynonymous SNV G95D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 195897 chr2 73679260 73679266 CTGAAGT - ALMS1 T1868Kfs*3 0 0.005 0 0 0 2 0 0 0 0 0 0 195898 chr2 73718546 73718546 A T rs553507775 ALMS1 Nonsynonymous SNV T3153S 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 25.5 195899 chr4 13582793 13582793 T C rs1015115949 BOD1L1 Synonymous SNV R2877R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.657 195900 chr12 51752990 51752990 C T rs764540376 GALNT6 Nonsynonymous SNV A432T 0 0 0 1 0 0 0.003 0 0 0 0 0 34 195901 chr2 73961620 73961620 G A rs751970441 TPRKB Nonsynonymous SNV A26V 0 0.005 0 0 0 2 0 0 0 0 0 0 25.5 195902 chr2 74687046 74687046 C T rs7420093 WBP1 Synonymous SNV C73C 0.004 0.018 0 5 5 7 0.013 0 0 0 0 0 11.19 195903 chr3 97596514 97596514 A G rs201775543 CRYBG3 Nonsynonymous SNV H2159R 0.006 0 0.007 1 7 0 0.003 2 0 0 0 0 0.001 195904 chr4 151199012 151199012 C T rs191145485 LRBA Nonsynonymous SNV D2820N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.5 195905 chr2 86255766 86255766 G A rs181416565 POLR1A Synonymous SNV A1616A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 15.01 195906 chr19 45923623 45923623 G A rs139827427 ERCC1 Synonymous SNV P128P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 10.65 195907 chr4 154387601 154387601 G A TMEM131L Nonsynonymous SNV A18T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.441 195908 chr4 15443867 15443867 C T rs558870508 C1QTNF7 Nonsynonymous SNV P112L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 195909 chr19 46281418 46281418 G A rs367743734 DMPK Synonymous SNV F125F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 195910 chr19 46283201 46283202 CT - DMPK E39Gfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 195911 chr3 190578588 190578588 C T rs372354454 GMNC Synonymous SNV P21P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 195912 chr2 97217435 97217435 C T rs146645591 ARID5A Synonymous SNV G226G 0.004 0.008 0 0 5 3 0 0 0 0 0 0 10.94 195913 chr2 97508140 97508140 G A rs139314354 ANKRD23 Nonsynonymous SNV R46W 0.004 0.008 0 0 5 3 0 0 0 0 0 0 21.5 195914 chr2 99439602 99439602 T G rs551912252 KIAA1211L Synonymous SNV A378A 0 0.005 0 0 0 2 0 0 0 0 0 0 4.978 195915 chr4 106888420 106888420 G A rs201656446 NPNT Nonsynonymous SNV R445H 0.002 0 0 0 2 0 0 0 0 0 0 0 18.87 195916 chr4 114117607 114117607 G T rs376457094 ANK2 Synonymous SNV V90V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.92 195917 chr4 119736850 119736850 G A rs150602522 SEC24D Synonymous SNV P143P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.12 195918 chr19 49812064 49812064 T C rs779503344 MIR4324 0 0 0.003 0 0 0 0 1 0 0 0 0 7.441 195919 chr19 49994103 49994103 C T rs142574485 RPL13A Synonymous SNV I47I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 19.13 195920 chr19 50304839 50304839 G A rs151108447 AP2A1 Synonymous SNV E582E 0.003 0 0.007 5 4 0 0.013 2 0 0 0 0 10.31 195921 chr3 113098368 113098368 G C rs777028574 CFAP44 Nonsynonymous SNV Q695E 0 0.008 0 0 0 3 0 0 0 0 0 0 0.002 195922 chr19 9087741 9087741 G A rs146223906 MUC16 Synonymous SNV S1358S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.039 195923 chr2 168105326 168105326 C T rs201293447 XIRP2 Nonsynonymous SNV T2253M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.183 195924 chr1 100327853 100327853 A G rs147024351 AGL Nonsynonymous SNV I112V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 195925 chr2 39088604 39088604 T C rs375449346 DHX57 Synonymous SNV G214G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.935 195926 chr1 102290656 102290656 G C OLFM3 Nonsynonymous SNV A193G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 195927 chr19 51527944 51527944 C T rs145979212 KLK11 Synonymous SNV A49A 0.002 0 0.01 1 2 0 0.003 3 0 0 0 0 9.006 195928 chr19 51535274 51535274 G A rs774623684 KLK12 Synonymous SNV H105H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.984 195929 chr1 109260545 109260545 C T FNDC7 Nonsynonymous SNV P77S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 195930 chr4 2460563 2460563 G A rs750643124 CFAP99 Synonymous SNV T425T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.444 195931 chr3 41957473 41957473 T C ULK4 Nonsynonymous SNV K267E 0.002 0 0 0 2 0 0 0 0 0 0 0 16.27 195932 chr12 85285849 85285849 A G SLC6A15 Synonymous SNV T17T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.79 195933 chr1 109811571 109811571 G A rs79850681 CELSR2 Nonsynonymous SNV R2191H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 195934 chr12 93150104 93150104 G A rs146227771 PLEKHG7 Nonsynonymous SNV A213T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.18 195935 chr11 64950196 64950196 G A rs763840544 CAPN1 Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.532 195936 chr12 94975791 94975791 T C rs186040245 TMCC3 Nonsynonymous SNV N170S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 195937 chr12 95456350 95456350 A T NR2C1 Synonymous SNV T73T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.548 195938 chr2 58431300 58431300 T C rs369876807 FANCL Nonsynonymous SNV R146G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 30 195939 chr11 65620199 65620199 C A SNX32 Synonymous SNV A337A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 195940 chr12 97019532 97019532 T C CFAP54 Nonsynonymous SNV I1308T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 195941 chr11 65732847 65732847 C T rs762646951 SART1 Synonymous SNV L197L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 195942 chr4 159076769 159076769 - A rs777968076 GASK1B Frameshift insertion L373Ffs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 195943 chr12 103988220 103988220 G T rs146698695 STAB2 Nonsynonymous SNV R88L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 195944 chr11 66359136 66359136 T C CCDC87 Nonsynonymous SNV R451G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 195945 chr1 115124203 115124203 T C rs62621917 BCAS2 Nonsynonymous SNV T4A 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 23.4 195946 chr19 54194172 54194172 T G MIR520A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.755 195947 chr3 48369780 48369780 T A rs766883450 SPINK8 Nonsynonymous SNV M18L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.03 195948 chr3 132221143 132221143 G A rs139620588 DNAJC13 Nonsynonymous SNV R1516H 0.002 0.008 0 0 2 3 0 0 0 0 0 0 24.1 195949 chr12 109527869 109527869 G A rs371845082 ALKBH2 Nonsynonymous SNV R142W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 195950 chr4 509960 509960 C T rs775569666 PIGG Nonsynonymous SNV P234L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 195951 chr4 5570239 5570239 G A rs370368827 EVC2 Synonymous SNV T1083T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.445 195952 chr12 109889560 109889560 G A rs754231823 KCTD10 Nonsynonymous SNV A262V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 195953 chr3 51284160 51284160 G A rs755261322 DOCK3 Synonymous SNV E702E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 195954 chr3 51284161 51284161 C G rs781436875 DOCK3 Nonsynonymous SNV L703V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 195955 chr2 74598751 74598751 C T rs201078804 DCTN1 Synonymous SNV P52P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 16.09 195956 chr4 5990265 5990265 C T rs573181146 C4orf50 Nonsynonymous SNV G991R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.33 195957 chr12 113603459 113603459 C T rs35519289 DDX54 Nonsynonymous SNV R570H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.7 195958 chr12 113831788 113831788 C T rs368480339 SDS Synonymous SNV G229G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.66 195959 chr4 187026505 187026505 G T rs190778751 FAM149A Nonsynonymous SNV G92V 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 9.742 195960 chr19 55870752 55870752 A C rs746443741 FAM71E2 Nonsynonymous SNV V495G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.285 195961 chr12 121693369 121693369 G A rs139606987 CAMKK2 Synonymous SNV I297I 0.004 0.008 0.007 1 5 3 0.003 2 0 0 0 0 Benign 13.91 195962 chr12 122090682 122090682 C A rs141136461 MORN3 Synonymous SNV A227A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.64 195963 chr11 87017001 87017001 G A rs146860039 TMEM135 Nonsynonymous SNV R219K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.59 195964 chr4 22389797 22389797 A C rs3814416 ADGRA3 Nonsynonymous SNV V1166G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 195965 chr4 22390558 22390558 T C rs3733314 ADGRA3 Synonymous SNV A912A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.022 195966 chr19 56473543 56473543 - T rs199475839 NLRP8 Frameshift insertion L720Ffs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 195967 chr3 154898201 154898201 C T rs766811497 MME Nonsynonymous SNV R736C 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 195968 chr19 56888650 56888650 C T rs33949495 ZNF542P 0 0 0.041 0 0 0 0 12 0 0 4 0 5.918 195969 chr4 3076609 3076609 - CAGCAGCAGCAG HTT Q38_P39insQQQQ 0.009 0 0 0 10 0 0 0 0 0 0 0 195970 chr3 8579001 8579001 G A rs148578971 LMCD1 Nonsynonymous SNV G15R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 195971 chr12 131453558 131453558 G A rs529352350 ADGRD1 Nonsynonymous SNV R75H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.327 195972 chr2 217293368 217293368 G A rs767036014 SMARCAL1 Synonymous SNV T399T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.5 195973 chr12 132627384 132627387 AGTT - rs773364513 DDX51 N186Vfs*42 0 0 0 1 0 0 0.003 0 0 0 0 0 195974 chr3 113379907 113379907 G A rs201244170 USF3 Nonsynonymous SNV P208S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.6 195975 chr3 180377338 180377338 G A rs749794148 CCDC39 Nonsynonymous SNV R214C 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 32 195976 chr12 133697728 133697728 T A rs772376382 ZNF891 Nonsynonymous SNV R259S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.28 195977 chr3 183479921 183479921 G A rs367957694 YEATS2 Nonsynonymous SNV V601M 0 0.005 0 0 0 2 0 0 0 0 0 0 18.04 195978 chr3 183667573 183667573 G A rs190669230 ABCC5 Synonymous SNV H593H 0 0.005 0 0 0 2 0 0 0 0 0 0 11.98 195979 chr3 183908978 183908978 G C rs75824087 ABCF3 Nonsynonymous SNV D496H 0 0.01 0.003 0 0 4 0 1 0 0 0 0 24.5 195980 chr19 629639 629639 G A rs61743197 POLRMT Synonymous SNV L241L 0.008 0.01 0.007 3 9 4 0.008 2 0 0 0 0 Benign 4.296 195981 chr4 88116637 88116637 T C rs140096013 KLHL8 Nonsynonymous SNV K19E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 195982 chr19 6466665 6466665 G A rs199738277 CRB3 Synonymous SNV P115P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 195983 chr4 88534400 88534400 C T rs751979983 DSPP Synonymous SNV R354R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 195984 chr4 100867612 100867612 T C rs200452972 DNAJB14 Nonsynonymous SNV T30A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.128 195985 chr4 55130065 55130065 C G rs149951350 PDGFRA Nonsynonymous SNV T200S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.327 195986 chr19 7592776 7592776 G A rs528887619 MCOLN1 Nonsynonymous SNV R236Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.79 195987 chr11 117866400 117866400 G A rs202121581 IL10RA Nonsynonymous SNV R262H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.94 195988 chr19 7965307 7965307 A G rs763062073 LRRC8E Nonsynonymous SNV T505A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.784 195989 chr4 110739219 110739219 T C rs765943302 GAR1 Synonymous SNV D114D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.459 195990 chr13 37614766 37614766 T C rs7324275 SUPT20H Nonsynonymous SNV M154V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.354 195991 chr13 38211046 38211046 T C rs731860 TRPC4 Synonymous SNV R803R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.011 195992 chr13 39263614 39263614 G A rs115446826 FREM2 Nonsynonymous SNV M711I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23.1 195993 chr13 39264459 39264459 A G rs61742843 FREM2 Nonsynonymous SNV E993G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.21 195994 chr5 112399723 112399723 C T rs1050948804 MCC Nonsynonymous SNV S534N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 195995 chr3 196846378 196846378 G A rs143253568 DLG1 Nonsynonymous SNV H314Y 0.001 0.008 0 0 1 3 0 0 0 0 0 0 20.6 195996 chr3 197238858 197238858 G A BDH1 Nonsynonymous SNV R314C 0.001 0.008 0 0 1 3 0 0 0 0 0 0 34 195997 chr5 122713098 122713098 G A rs765937425 CEP120 Synonymous SNV L750L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.447 195998 chr3 135871105 135871105 A G rs111827615 MSL2 Synonymous SNV G132G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.009 195999 chr5 131977978 131977978 C T rs368356436 RAD50 Synonymous SNV Y1287Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 18.26 196000 chr4 154624857 154624857 G C rs150388453 TLR2 Nonsynonymous SNV L266F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.02 196001 chr3 142268451 142268451 A G ATR Nonsynonymous SNV I950T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 196002 chr4 155156381 155156381 C T rs200990565 DCHS2 Synonymous SNV Q3141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.118 196003 chr13 79190334 79190334 C T rs200737834 OBI1 Nonsynonymous SNV R521Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 196004 chr4 15591190 15591190 C G rs143947747 CC2D2A Nonsynonymous SNV T1401S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 196005 chr12 1963176 1963176 G A rs78335326 CACNA2D4 Synonymous SNV D729D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 11.18 196006 chr12 1965358 1965358 G C rs116214586 CACNA2D4 Synonymous SNV A682A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 8.194 196007 chr4 8621206 8621206 C T rs780043913 CPZ Synonymous SNV A596A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 196008 chr4 162841652 162841652 C T rs148666972 FSTL5 Nonsynonymous SNV G104R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 196009 chr5 140201656 140201656 C T PCDHA5 Nonsynonymous SNV A99V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.29 196010 chr1 180886013 180886013 C T rs202029251 KIAA1614 Synonymous SNV S258S 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 11.6 196011 chr5 140255357 140255357 G A rs781933974 PCDHA12 Synonymous SNV A100A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.43 196012 chr4 89326026 89326026 A G rs200147479 HERC6 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 196013 chr3 4491018 4491018 T A SUMF1 Stop gain K151X 0 0.008 0 0 0 3 0 0 0 0 0 0 40 196014 chr3 45077375 45077375 C G rs780598610 CLEC3B Nonsynonymous SNV R148G 0 0.008 0 0 0 3 0 0 0 0 0 0 27.9 196015 chr12 7528342 7528342 C T rs146146000 CD163L1 Synonymous SNV P890P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.89 196016 chr1 111860339 111860339 A T rs116430435 CHIA Nonsynonymous SNV I12F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 196017 chr4 1817496 1817496 G A rs765510397 LETM1 Synonymous SNV N655N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.257 196018 chr1 1120422 1120422 G A rs758599047 TTLL10 Nonsynonymous SNV R372H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 196019 chr3 46775306 46775306 G A PRSS46P 0 0.005 0 0 0 2 0 0 0 0 0 0 24.5 196020 chr1 114372578 114372578 A T rs143703692 PTPN22 Nonsynonymous SNV D654E 0 0 0.003 0 0 0 0 1 0 0 0 0 24 196021 chr12 9260193 9260193 C T A2M Nonsynonymous SNV C119Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 196022 chr3 46940337 46940337 C T rs757778337 PTH1R Nonsynonymous SNV A275V 0 0.005 0 0 0 2 0 0 0 0 0 0 14.71 196023 chr5 1064345 1064345 G A rs377477211 SLC12A7 Synonymous SNV A820A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.056 196024 chr13 114566709 114566709 G T GAS6 Nonsynonymous SNV L32M 0 0 0 2 0 0 0.005 0 0 0 0 0 8.015 196025 chr13 115090838 115090838 C A rs150753986 CHAMP1 Synonymous SNV S507S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 10.78 196026 chr1 117311235 117311235 C T rs377222693 CD2 Nonsynonymous SNV R322C 0 0 0.007 0 0 0 0 2 0 0 0 0 28.8 196027 chr4 187004073 187004073 A G TLR3 Nonsynonymous SNV I411M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 196028 chr5 147807069 147807069 G A rs141211499 FBXO38 Nonsynonymous SNV E738K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.11 196029 chr3 48436120 48436120 C T rs143318983 FBXW12 Nonsynonymous SNV T394M 0 0.005 0 0 0 2 0 0 0 0 0 0 17.8 196030 chr5 149221858 149221858 G T rs144054131 PPARGC1B Nonsynonymous SNV D873Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 196031 chr3 49012470 49012470 G A rs764413507 ARIH2 Nonsynonymous SNV R340H 0 0.005 0 0 0 2 0 0 0 0 0 0 2.062 196032 chr4 1986559 1986559 T C rs41286683 NELFA Nonsynonymous SNV I338V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Likely benign 2.095 196033 chr3 49935619 49935619 C A rs766834326 MST1R Nonsynonymous SNV R476M 0 0.005 0 0 0 2 0 0 0 0 0 0 28.2 196034 chr3 49940379 49940379 T C MST1R Nonsynonymous SNV K222E 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.4 196035 chr1 120166527 120166527 G T ZNF697 Nonsynonymous SNV L147I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 196036 chr4 25260674 25260674 T C PI4K2B Synonymous SNV L258L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 196037 chr1 1268124 1268124 C G TAS1R3 Nonsynonymous SNV H405D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 196038 chr3 52510603 52510603 C T rs61738410 NISCH Synonymous SNV I302I 0 0.005 0.003 0 0 2 0 1 0 0 0 0 17.25 196039 chr14 21861869 21861869 C T rs145300090 CHD8 Nonsynonymous SNV E2029K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 196040 chr14 21899391 21899391 C G rs767023297 CHD8 Nonsynonymous SNV V138L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.37 196041 chr12 19443625 19443625 G A rs199962575 PLEKHA5 Synonymous SNV T620T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 196042 chr12 21015738 21015738 T C rs942086296 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV L198P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 196043 chr14 23390255 23390255 G A rs753463914 PRMT5 Nonsynonymous SNV T420M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 196044 chr1 151115071 151115071 G C rs200341959 SEMA6C Synonymous SNV P9P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.68 196045 chr5 136324187 136324187 A C rs138230869 SPOCK1 Synonymous SNV L284L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.011 196046 chr5 158701594 158701594 T C UBLCP1 Synonymous SNV S183S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.82 196047 chr14 23790680 23790680 - GGC rs568987300 PABPN1 A11_G12insA 0.004 0 0.003 6 5 0 0.015 1 0 0 0 0 196048 chr5 160016684 160016684 A G rs144497343 ATP10B Nonsynonymous SNV I1222T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 22.4 196049 chr5 160113099 160113099 G A rs186100669 ATP10B Stop gain R197X 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 196050 chr1 20474812 20474812 C T rs150487984 PLA2G2F Nonsynonymous SNV T142M 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 17.57 196051 chr1 152058907 152058907 C T rs142977662 TCHHL1 Synonymous SNV L417L 0 0 0.01 0 0 0 0 3 0 0 0 0 5.529 196052 chr1 152280685 152280685 C A rs544807449 FLG Nonsynonymous SNV G2226V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.33 196053 chr1 152280687 152280687 C T rs564482396 FLG Synonymous SNV V2225V 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.009 196054 chr1 152280688 152280688 A G rs116918835 FLG Nonsynonymous SNV V2225A 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 0.025 196055 chr12 29496176 29496176 A C rs369189858 ERGIC2 Nonsynonymous SNV S289A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 196056 chr12 29628046 29628046 A G rs530761993 OVCH1 Synonymous SNV D551D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.502 196057 chr1 153085051 153085051 T C rs144281425 SPRR2F Synonymous SNV K53K 0.003 0.003 0.003 2 3 1 0.005 1 1 0 0 0 2.043 196058 chr14 24780918 24780918 G C rs78449402 LTB4R2 Nonsynonymous SNV E350Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.527 196059 chr1 153751821 153751821 C A rs200933053 SLC27A3 Nonsynonymous SNV H583N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 196060 chr1 153932915 153932915 G A rs202007708 SLC39A1 Synonymous SNV L212L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.315 196061 chr12 32735179 32735179 C G rs757469397 FGD4 Nonsynonymous SNV H33Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.264 196062 chr1 154574131 154574131 A G ADAR Synonymous SNV D34D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.31 196063 chr1 154920687 154920687 C T rs41264255 PBXIP1 Nonsynonymous SNV G34R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.8 196064 chr14 30102133 30102133 C T PRKD1 Nonsynonymous SNV R445K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 196065 chr12 40076454 40076454 T G rs761939787 C12orf40 Nonsynonymous SNV I243S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 196066 chr14 31614080 31614080 A G HECTD1 Nonsynonymous SNV V855A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 196067 chr1 155837766 155837766 G A rs139850465 SYT11 Synonymous SNV P15P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.802 196068 chr1 155904156 155904156 C A rs755632615 KHDC4 Synonymous SNV A3A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 196069 chr14 38218480 38218484 TGAAG - rs749213902 TTC6 V918Dfs*4 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 196070 chr4 57344781 57344781 C G rs569175752 SRP72 Nonsynonymous SNV A264G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 196071 chr3 98188593 98188593 C A rs201883025 OR5K1 Nonsynonymous SNV P58Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 26.1 196072 chr1 216219912 216219912 T G rs200247886 USH2A Synonymous SNV P2062P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.49 196073 chr1 156836717 156836717 C T rs757803799 NTRK1 Synonymous SNV N125N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.88 196074 chr3 9988034 9988034 C A rs377111820 PRRT3 Synonymous SNV L941L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.37 196075 chr12 49743442 49743442 C T DNAJC22 Nonsynonymous SNV L263F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 196076 chr1 224001984 224001984 G A rs200028775 TP53BP2 Nonsynonymous SNV R83C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 196077 chr1 224002042 224002042 C T rs148955881 TP53BP2 Synonymous SNV A63A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.49 196078 chr12 50749583 50749583 C A FAM186A Nonsynonymous SNV L344F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 196079 chr5 149456847 149456847 C T rs149168939 CSF1R Nonsynonymous SNV R294Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 22.7 196080 chr12 51281070 51281070 G A rs749895896 TMPRSS12 Nonsynonymous SNV C274Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 196081 chr4 110394256 110394256 C T rs201271131 SEC24B Nonsynonymous SNV S325L 0 0.01 0.003 0 0 4 0 1 0 0 0 0 10.74 196082 chr14 60591706 60591706 A G rs45445392 PCNX4 Synonymous SNV Q705Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.02 196083 chr14 61909947 61909947 C T PRKCH Synonymous SNV P182P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.82 196084 chr5 38530704 38530704 C T rs61751713 LIFR Nonsynonymous SNV D16N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.21 196085 chr4 113553106 113553106 T C rs1027019866 ZGRF1 Nonsynonymous SNV I28V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.3 196086 chr14 64565528 64565528 G T rs370255444 SYNE2 Nonsynonymous SNV V4124L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 196087 chr1 16475300 16475300 G T EPHA2 Synonymous SNV T78T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.998 196088 chr1 167038280 167038280 G A rs372512579 GPA33 Synonymous SNV S98S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.806 196089 chr1 167096109 167096109 C A rs757387713 DUSP27 Nonsynonymous SNV P581T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 196090 chr14 65260231 65260231 C T rs199594314 SPTB Nonsynonymous SNV R717H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 196091 chr4 83350562 83350562 G A rs200009960 HNRNPDL Synonymous SNV S94S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.54 196092 chr12 53448104 53448104 C T TNS2, LOC283335 Nonsynonymous SNV T144I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 196093 chr12 53509223 53509223 T C rs780061404 SOAT2 Synonymous SNV L165L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.772 196094 chr12 53591641 53591641 - GCTCCTCCA ITGB7 E98_P99insLEE 0.001 0 0 0 1 0 0 0 0 0 0 0 196095 chr4 84511405 84511405 T C GPAT3 Nonsynonymous SNV I233T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 196096 chr14 73717702 73717702 G A rs773214278 PAPLN Nonsynonymous SNV V185I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 196097 chr3 51750074 51750074 T C GRM2 Nonsynonymous SNV I384T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 196098 chr4 89591117 89591117 C T rs371593522 HERC3 Synonymous SNV P462P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 196099 chr1 236557804 236557804 G A rs60808129 EDARADD Synonymous SNV E20E 0.003 0.003 0.01 1 4 1 0.003 3 0 0 0 0 Benign/Likely benign 0.513 196100 chr3 52397130 52397130 C T rs200175873 DNAH1 Synonymous SNV F1738F 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.81 196101 chr4 96045056 96045056 C T rs34231464 BMPR1B Nonsynonymous SNV R149W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28 196102 chr5 624635 624635 T G rs773830505 CEP72 Nonsynonymous SNV F151L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 196103 chr8 11142438 11142438 A G rs141460029 MTMR9 Nonsynonymous SNV N14S 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 13.92 196104 chr3 52777464 52777464 C T rs778563165 NEK4 Synonymous SNV R547R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.63 196105 chr5 67576807 67576807 G A rs763278796 PIK3R1 Nonsynonymous SNV E297K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.2 196106 chr1 23885900 23885900 C T rs367630056 ID3 Synonymous SNV P6P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.3 196107 chr12 57567738 57567738 C T rs773683010 LRP1 Synonymous SNV D1174D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 196108 chr12 57864376 57864376 C T rs766813817 GLI1 Nonsynonymous SNV P490L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 196109 chr14 88454869 88454869 - A rs750734229 GALC 0 0 0 1 0 0 0.003 0 0 0 0 0 196110 chr1 24432519 24432519 C T rs145011026 MYOM3 Nonsynonymous SNV G151S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 196111 chr14 91755558 91755558 C T rs763645323 CCDC88C Synonymous SNV S1444S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.56 196112 chr5 114515676 114515676 C T rs148537675 TRIM36 Nonsynonymous SNV G20D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 196113 chr12 68051947 68051947 C A rs368304778 DYRK2 Synonymous SNV P347P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.05 196114 chr5 118485251 118485251 A G rs142350084 DMXL1 Synonymous SNV P1243P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.879 196115 chr14 93650165 93650165 C T rs140601992 MOAP1 Nonsynonymous SNV M141I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.079 196116 chr14 93709393 93709393 C T rs144710164 BTBD7 Synonymous SNV A524A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.3 196117 chr5 1201778 1201778 G A rs200608959 SLC6A19 Nonsynonymous SNV V5M 0.002 0 0 0 2 0 0 0 0 0 0 0 8.043 196118 chr14 94203630 94203630 A G rs201669590 PRIMA1 Nonsynonymous SNV F106L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 196119 chr12 72094642 72094642 A G rs574587435 TMEM19 Nonsynonymous SNV N293S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 196120 chr14 94780668 94780668 G A rs200497926 SERPINA6 Synonymous SNV H106H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.428 196121 chr4 169341425 169341425 A - rs759003807 DDX60L V834Dfs*2 0 0.005 0 0 0 2 0 0 0 0 0 0 196122 chr12 78531085 78531085 C T NAV3 Synonymous SNV L1524L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 196123 chr14 95884342 95884342 C A rs912858087 SYNE3 Nonsynonymous SNV G912C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 196124 chr14 96552994 96552994 C T rs774502159 C14orf132 Synonymous SNV A58A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 196125 chr12 86198959 86198959 G A rs189624256 RASSF9 Stop gain R277X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 196126 chr1 19511619 19511619 G C UBR4 Nonsynonymous SNV L638V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.844 196127 chr5 36163815 36163815 C T SKP2 Synonymous SNV L117L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 196128 chr12 88523531 88523531 C T CEP290 Synonymous SNV V264V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 196129 chr1 196953125 196953125 T C CFHR5 Synonymous SNV H96H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 196130 chr12 89919749 89919749 G A rs530695410 POC1B-GALNT4 Nonsynonymous SNV P62S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.55 196131 chr14 102843111 102843111 A G rs150645913 TECPR2 Nonsynonymous SNV Y18C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.7 196132 chr12 94694705 94694705 G A rs781592014 PLXNC1 Nonsynonymous SNV V1420I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 196133 chr5 476531 476531 C T rs373937612 SLC9A3-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.471 196134 chr12 100453791 100453791 T C UHRF1BP1L Nonsynonymous SNV N527S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 196135 chr1 24973217 24973217 G A rs771004368 SRRM1 Synonymous SNV T57T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.53 196136 chr4 103595169 103595169 C G MANBA Nonsynonymous SNV S340T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 196137 chr1 26356970 26356970 C T rs201341976 EXTL1 Synonymous SNV L329L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.57 196138 chr12 104522240 104522240 T C NFYB Nonsynonymous SNV Y21C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 196139 chr12 104698437 104698437 A G rs77135236 EID3 Nonsynonymous SNV Y242C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.8 196140 chr14 105404404 105404404 C G rs201189960 AHNAK2 Nonsynonymous SNV G5695A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.61 196141 chr6 110935789 110935789 C T rs370278585 CDK19 Synonymous SNV S442S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.67 196142 chr15 22963869 22963869 A G rs142727980 CYFIP1 Nonsynonymous SNV I364V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.71 196143 chr1 203186045 203186045 T C rs773738960 CHIT1 Nonsynonymous SNV N439S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 196144 chr1 27878528 27878528 G A rs780048677 AHDC1 Synonymous SNV P33P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.226 196145 chr6 116288877 116288877 C G FRK Nonsynonymous SNV Q212H 0 0.003 0 0 0 1 0 0 0 0 0 0 23 196146 chr4 3415938 3415938 G C rs764630243 RGS12 Synonymous SNV L72L 0 0.005 0 0 0 2 0 0 0 0 0 0 5.201 196147 chr5 70308223 70308223 G A rs781287367 NAIP Stop gain Q174X 0.003 0 0 0 3 0 0 0 0 0 0 0 34 196148 chr12 111758361 111758361 G A CUX2 Nonsynonymous SNV G788S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.32 196149 chr6 117113432 117113432 G T rs142518238 GPRC6A Nonsynonymous SNV S814Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.008 196150 chr15 31515901 31515901 T C rs962056410 LOC283710 Nonsynonymous SNV Q41R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.761 196151 chr15 31522936 31522936 T C rs534201980 LOC283710 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 3.811 196152 chr15 32976851 32976851 A G ARHGAP11A-SCG5, SCG5 Nonsynonymous SNV Y157C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 196153 chr5 141016175 141016175 G A rs2547551 HDAC3 Synonymous SNV P26P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.98 196154 chr1 32936462 32936462 C T ZBTB8B Synonymous SNV I79I 0 0 0 1 0 0 0.003 0 0 0 0 0 13 196155 chr12 113645937 113645937 T C rs141052395 IQCD Nonsynonymous SNV Y12C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.645 196156 chr12 114793396 114793396 G A TBX5 Nonsynonymous SNV H450Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 196157 chr6 12122216 12122216 C T rs201247218 HIVEP1 Nonsynonymous SNV L730F 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 12.8 196158 chr5 145439492 145439492 G A rs377323543 SH3RF2 Nonsynonymous SNV R540H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.55 196159 chr6 122744019 122744019 A T rs45575931 HSF2 Synonymous SNV L329L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.448 196160 chr12 120569098 120569098 C T rs767850660 GCN1 Nonsynonymous SNV R2485Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 196161 chr6 127608744 127608744 C T rs771170597 RNF146 Nonsynonymous SNV S329L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.4 196162 chr12 120600771 120600771 G A rs376225882 GCN1 Synonymous SNV A681A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 196163 chr1 209965657 209965657 C T rs564069497 IRF6 Synonymous SNV Q113Q 0 0 0.007 0 0 0 0 2 0 0 0 0 12.01 196164 chr1 21133844 21133844 G C EIF4G3 Nonsynonymous SNV R1576G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 196165 chr1 38032512 38032514 TCT - rs773643902 GNL2 K530del 0 0 0 3 0 0 0.008 0 0 0 0 0 196166 chr15 41062933 41062933 C T C15orf62 Synonymous SNV P80P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.12 196167 chr15 41279305 41279305 T G INO80 Nonsynonymous SNV E1272D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.5 196168 chr6 138428303 138428303 C T rs146568280 PERP Nonsynonymous SNV G59R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 21.8 196169 chr15 42103097 42103097 T C MAPKBP1 Nonsynonymous SNV F75L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 196170 chr15 42145167 42145167 C T rs200134036 SPTBN5 Nonsynonymous SNV R3401Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.687 196171 chr5 82836373 82836373 C T rs77870162 VCAN Synonymous SNV D1530D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 4.698 196172 chr1 22155564 22155564 C T rs985624091 HSPG2 Nonsynonymous SNV V4002I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.345 196173 chr15 42716196 42716196 G A ZNF106 Synonymous SNV H913H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.139 196174 chr15 43026160 43026160 G C CDAN1 Nonsynonymous SNV A448G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 196175 chr15 43819383 43819383 C A rs371901088 MAP1A Synonymous SNV P1904P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.2 196176 chr1 222705418 222705418 T G rs61748612 HHIPL2 Nonsynonymous SNV K538T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.44 196177 chr5 156923982 156923982 G T rs774391030 ADAM19 Nonsynonymous SNV P505H 0.002 0 0 0 2 0 0 0 0 0 0 0 26 196178 chr4 6304186 6304186 G A rs756116434 WFS1 Synonymous SNV S888S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Uncertain significance 6.27 196179 chr5 156940459 156940459 C T rs777350579 ADAM19 Nonsynonymous SNV A241T 0.002 0 0 0 2 0 0 0 0 0 0 0 35 196180 chr4 649778 649778 G A rs780144677 PDE6B Nonsynonymous SNV V69M 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 196181 chr4 656354 656354 C A rs769147926 PDE6B Synonymous SNV A208A 0 0.005 0 0 0 2 0 0 0 0 0 0 20.9 196182 chr4 6611594 6611594 - G MAN2B2 Frameshift insertion E643Gfs*21 0 0.005 0 0 0 2 0 0 0 0 0 0 196183 chr15 52439725 52439725 G T GNB5 Nonsynonymous SNV A100E 0 0 0 1 0 0 0.003 0 0 0 0 0 32 196184 chr8 54791882 54791882 G C rs373095892 RGS20 Nonsynonymous SNV S77T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 196185 chr15 55933394 55933394 T C rs961285423 PRTG Nonsynonymous SNV K685R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 196186 chr6 109802250 109802250 C G rs773462875 ZBTB24 Nonsynonymous SNV S327T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.43 196187 chr4 77091079 77091079 C T SCARB2 Nonsynonymous SNV A209T 0 0.003 0 0 0 1 0 0 0 0 0 0 31 196188 chr13 21729952 21729953 TA TGGA SKA3 0.002 0 0 0 2 0 0 0 0 0 0 0 196189 chr13 24860526 24860526 G A rs142244461 SPATA13 Nonsynonymous SNV V123I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 196190 chr4 7940981 7940981 A C LOC389199 Nonsynonymous SNV Q30P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 196191 chr1 232564288 232564288 T G rs61729754 SIPA1L2 Nonsynonymous SNV M1427L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.347 196192 chr3 195599218 195599218 G A TNK2 Synonymous SNV N484N 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 5.354 196193 chr6 160500716 160500716 C T rs764684207 IGF2R Synonymous SNV T1861T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 196194 chr1 235929555 235929555 G A rs146591126 LYST Nonsynonymous SNV T1982I 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Benign/Likely benign 17.06 196195 chr4 85661400 85661400 T C rs202215877 WDFY3 Nonsynonymous SNV N2135S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25.4 196196 chr6 1612011 1612011 T G FOXC1 Nonsynonymous SNV L444R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.13 196197 chr13 37014255 37014255 A G rs61755282 CCNA1 Nonsynonymous SNV N344D 0.001 0 0 0 1 0 0 0 0 0 0 0 25 196198 chr1 242035383 242035385 GAA - rs779981618 EXO1 K441del 0 0 0.003 0 0 0 0 1 0 0 0 0 196199 chr3 37059082 37059082 G A rs773452312 MLH1 Synonymous SNV L51L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Likely benign 11.18 196200 chr1 24449866 24449866 C T rs548851178 IL22RA1 Nonsynonymous SNV G240S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.5 196201 chr15 75146404 75146404 C T rs759149914 SCAMP2 Synonymous SNV A61A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.81 196202 chr6 138632588 138632588 G A rs118049612 ARFGEF3 Nonsynonymous SNV G1381R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 196203 chr15 75655014 75655014 C T rs149884810 MAN2C1 Nonsynonymous SNV R289Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.669 196204 chr15 78466037 78466037 C G rs137988972 ACSBG1 Nonsynonymous SNV E659Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 196205 chr13 67799707 67799707 C G rs768683640 PCDH9 Nonsynonymous SNV V956L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 196206 chr1 78430391 78430391 G A rs34747341 FUBP1 Synonymous SNV G259G 0.003 0.003 0.007 9 3 1 0.023 2 0 0 0 0 12.97 196207 chr15 81295655 81295655 C T TLNRD1 Nonsynonymous SNV S348F 0 0 0 1 0 0 0.003 0 0 0 0 0 26 196208 chr5 5190148 5190148 G A rs368918485 ADAMTS16 Nonsynonymous SNV G371E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 196209 chr1 78963564 78963564 C T rs12097116 PTGFR Synonymous SNV Y268Y 0 0 0.007 1 0 0 0.003 2 0 0 0 0 4.242 196210 chr15 83346523 83346523 C T rs774348949 AP3B2 Synonymous SNV V394V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.31 196211 chr1 8386047 8386047 C T rs144175783 SLC45A1 Synonymous SNV D220D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.5 196212 chr13 79213134 79213134 T G rs144588084 OBI1 Nonsynonymous SNV K125Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 196213 chr5 126770464 126770464 C T rs142667981 MEGF10 Synonymous SNV T642T 0.002 0.013 0 1 2 5 0.003 0 0 0 0 0 17.28 196214 chr5 55407257 55407257 T C rs769971952 ANKRD55 Nonsynonymous SNV I440V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 196215 chr1 26355692 26355692 G A rs140176340 EXTL1 Nonsynonymous SNV R263H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 1.28 196216 chr5 64520805 64520805 C G rs777322496 ADAMTS6 Nonsynonymous SNV G713R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 196217 chr5 64960208 64960208 G A rs775729522 TRAPPC13 Synonymous SNV L219L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.518 196218 chr5 132432903 132432903 G A rs752759610 HSPA4 Synonymous SNV K618K 0.001 0.013 0 0 1 5 0 0 0 0 0 0 15.89 196219 chr5 678005 678005 G A rs7737292 TPPP Synonymous SNV R57R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.144 196220 chr5 68590718 68590718 G A rs780821716 CCDC125 Nonsynonymous SNV L275F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 196221 chr5 71739748 71739748 C T rs145012296 ZNF366 Synonymous SNV E690E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.76 196222 chr1 29442303 29442303 T C rs376738515 EPB41 Synonymous SNV D774D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.113 196223 chr5 13883144 13883144 T C rs756780275 DNAH5 Nonsynonymous SNV T1015A 0.001 0.01 0 0 1 4 0 0 0 0 0 0 9.822 196224 chr9 124440975 124440975 C T rs371024306 DAB2IP Nonsynonymous SNV P20L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 196225 chr1 31655420 31655420 G C NKAIN1 Nonsynonymous SNV F163L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 196226 chr6 38854567 38854567 A G DNAH8 Nonsynonymous SNV I2537V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.689 196227 chr6 160197276 160197276 G A rs769051451 ACAT2 Synonymous SNV T272T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 196228 chr1 34090660 34090660 T C rs147684141 CSMD2 Nonsynonymous SNV T1831A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 196229 chr1 3415052 3415052 G A rs556685199 MEGF6 Nonsynonymous SNV R1079W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 196230 chr3 52357833 52357833 C T DNAH1 Nonsynonymous SNV R115C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 196231 chr6 42607981 42607981 A T UBR2 Synonymous SNV A631A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.474 196232 chr14 20612813 20612813 T C rs147051527 OR4N5 Nonsynonymous SNV F307L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 196233 chr5 140752027 140752027 A G rs745961736 PCDHGB3 Nonsynonymous SNV Q689R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.2 196234 chr1 36181847 36181847 C T rs368313160 C1orf216 Nonsynonymous SNV E26K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 196235 chr5 140755803 140755803 G T rs202155785 PCDHGA6 Nonsynonymous SNV R718L 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 23.2 196236 chr5 140779461 140779461 C G rs201911174 PCDHGB5 Synonymous SNV A589A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 17.32 196237 chr5 140798783 140798783 G C PCDHGB7 Nonsynonymous SNV G453R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.385 196238 chr5 140799445 140799445 G A PCDHGB7 Synonymous SNV P673P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.84 196239 chr5 141028827 141028827 G A rs199923199 FCHSD1 Nonsynonymous SNV R142W 0.001 0.008 0 0 1 3 0 0 0 0 0 0 32 196240 chr1 38058407 38058407 C T rs55821696 GNL2 Synonymous SNV R50R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 196241 chr5 82937554 82937554 C T HAPLN1 Nonsynonymous SNV V276M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 196242 chr14 20925202 20925202 G A rs143215922 APEX1 Synonymous SNV S164S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.355 196243 chr5 145379844 145379844 G A rs35453884 SH3RF2 Nonsynonymous SNV R201Q 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 25.3 196244 chr16 323785 323785 G A rs369367441 RGS11 Synonymous SNV L150L 0 0 0 2 0 0 0.005 0 0 0 0 0 5.688 196245 chr5 89981639 89981639 C T rs186999408 ADGRV1 Nonsynonymous SNV A2106V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 196246 chr4 8229514 8229514 C T rs377238446 SH3TC1 Nonsynonymous SNV S622L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 196247 chr16 839297 839297 C T rs201869235 CHTF18 Nonsynonymous SNV S125F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 196248 chr5 9050549 9050549 T C rs34563995 SEMA5A Nonsynonymous SNV S956G 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 21.4 196249 chr16 846804 846804 C T rs79959913 CHTF18 Synonymous SNV I848I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.57 196250 chr1 40701711 40701711 C T rs111609852 RLF Nonsynonymous SNV P446L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 196251 chr14 22133857 22133857 G - OR4E2 A188Pfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 196252 chr6 47277215 47277215 G A rs376684708 TNFRSF21 Synonymous SNV L11L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 196253 chr16 1400129 1400129 C G TSR3 Synonymous SNV P211P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.781 196254 chr14 23530542 23530542 C A rs201109870 ACIN1 Nonsynonymous SNV R461L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 196255 chr16 2762813 2762813 G A rs368585462 PRSS27 Synonymous SNV G125G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.797 196256 chr1 49511304 49511304 T C AGBL4 Synonymous SNV Q194Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 196257 chr1 52704068 52704068 A G rs756625986 ZFYVE9 Nonsynonymous SNV S327G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.882 196258 chr16 3604305 3604305 C T rs141569334 NLRC3 Synonymous SNV R735R 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 12.18 196259 chr14 45716018 45716018 - T rs546807245 MIS18BP1 Frameshift insertion L158Ifs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 196260 chr6 36922596 36922596 C T PI16 Synonymous SNV A20A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.69 196261 chr5 170736466 170736466 C T rs199762968 TLX3 Nonsynonymous SNV P33S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.018 196262 chr16 4563837 4563837 G C rs773833337 CDIP1 Nonsynonymous SNV A34G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 196263 chr6 131915417 131915417 G A rs529151840 MED23 Synonymous SNV D1018D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.666 196264 chr6 133105157 133105157 G C rs568919244 SLC18B1 Synonymous SNV S191S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.451 196265 chr6 133105158 133105158 G T rs539111087 SLC18B1 Nonsynonymous SNV S191Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29 196266 chr6 138575088 138575088 T C rs144995312 ARFGEF3 Nonsynonymous SNV M246T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 23 196267 chr9 140006642 140006644 GTC - rs776283019 DPP7 D324del 0.002 0 0 0 2 0 0 0 0 0 0 0 196268 chr14 58979320 58979320 T C rs774903272 KIAA0586 Synonymous SNV S1328S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.814 196269 chr16 11367234 11367234 - TT rs571306896 PRM3 Frameshift insertion L74Sfs*55 0 0 0 1 0 0 0.003 0 0 0 0 0 196270 chr4 114257040 114257040 T C ANK2 Nonsynonymous SNV C316R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 196271 chr1 65307190 65307190 T C rs187043211 JAK1 Nonsynonymous SNV N833S 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 10.04 196272 chr16 15729558 15729558 C T rs770537911 MARF1 Synonymous SNV P262P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.53 196273 chr14 64689913 64689913 G A rs150172232 SYNE2 Nonsynonymous SNV E255K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 23 196274 chr5 32229904 32229904 C T rs139269595 MTMR12 Nonsynonymous SNV V632M 0.001 0.01 0 0 1 4 0 0 0 0 0 0 25.9 196275 chr6 4892334 4892334 T A rs139710301 CDYL Nonsynonymous SNV S6T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.69 196276 chr16 20946726 20946726 G A rs529709677 DNAH3 Stop gain Q3935X 0 0 0 1 0 0 0.003 0 0 0 0 0 53 196277 chr6 158914679 158914679 C T rs776583095 TULP4 Nonsynonymous SNV P569L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 196278 chr6 159190925 159190925 C T rs142824813 EZR Nonsynonymous SNV R381Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 16.11 196279 chr16 23392086 23392086 C T rs61759917 SCNN1B Synonymous SNV D629D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Likely benign 12.01 196280 chr20 47871154 47871154 C T rs753289350 ZNFX1 Nonsynonymous SNV R946H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 196281 chr5 37157912 37157912 A T rs749523755 CPLANE1 Stop gain L2606X 0 0.005 0 0 0 2 0 0 0 0 0 0 Pathogenic 42 196282 chr6 159657320 159657320 T C rs759791279 FNDC1 Synonymous SNV I1347I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.255 196283 chr20 49492605 49492605 C T rs762515527 BCAS4 Synonymous SNV S187S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.822 196284 chr1 87104702 87104702 T C rs142838202 CLCA3P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.436 196285 chr1 878206 878206 C T SAMD11 Synonymous SNV P444P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.008 196286 chr6 564580 564580 G A rs150738226 EXOC2 Synonymous SNV S544S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.467 196287 chr14 75231035 75231035 T C YLPM1 Synonymous SNV P281P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 196288 chr6 169642042 169642042 C T rs202062355 THBS2 Nonsynonymous SNV A236T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.668 196289 chr6 18122733 18122733 G A NHLRC1 Synonymous SNV H35H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.45 196290 chr16 57508748 57508748 G A rs745316420 DOK4 Nonsynonymous SNV R186C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 196291 chr7 102453912 102453912 A G rs76271897 FBXL13 Synonymous SNV R650R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.385 196292 chr6 87970372 87970372 A C rs763030288 ZNF292 Nonsynonymous SNV E2342A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.91 196293 chr7 107234489 107234489 A G rs767955515 BCAP29, DUS4L-BCAP29 Nonsynonymous SNV M95V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 196294 chr14 95598904 95598904 G A DICER1 Synonymous SNV I85I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 196295 chr6 26444501 26444501 C G BTN3A3 Stop gain Y92X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 196296 chr6 26468265 26468265 C T rs753532528 BTN2A1 Synonymous SNV L297L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.849 196297 chr14 100363618 100363618 G A rs746895186 EML1 Nonsynonymous SNV D272N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 196298 chr5 74949002 74949002 C G rs112912188 ANKDD1B Nonsynonymous SNV N278K 0.003 0.008 0 6 4 3 0.015 0 0 0 0 0 4.704 196299 chr16 68718541 68718541 A C CDH3 Nonsynonymous SNV E358A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 196300 chr6 27925076 27925076 C G rs150850606 OR2B6 Nonsynonymous SNV R20G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 196301 chr6 27925794 27925794 A G OR2B6 Nonsynonymous SNV Y259C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 196302 chr16 70400552 70400552 C G rs759642242 DDX19A Nonsynonymous SNV L239V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.31 196303 chr16 70712236 70712236 C T rs139062681 MTSS2 Synonymous SNV T181T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.95 196304 chr14 104026418 104026418 C T rs775663610 BAG5 Nonsynonymous SNV E362K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.1 196305 chr16 71690541 71690541 T C PHLPP2 Nonsynonymous SNV T708A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.03 196306 chr5 79732684 79732684 A G rs373729351 ZFYVE16 Synonymous SNV Q60Q 0 0.008 0 0 0 3 0 0 0 0 0 0 0.022 196307 chr7 127670274 127670274 G A rs966138053 LRRC4 Synonymous SNV S140S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.933 196308 chr14 105639463 105639463 G A rs140616526 NUDT14 Synonymous SNV G188G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 196309 chr15 23892868 23892868 G T rs886819643 MAGEL2 Nonsynonymous SNV L8M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 196310 chr7 134632411 134632411 C T rs141179317 CALD1 Nonsynonymous SNV A301V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 23.6 196311 chr20 32255678 32255678 A T rs763745772 ACTL10 Nonsynonymous SNV E125D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 196312 chr15 31521511 31521511 G T rs754397024 LOC283710 Nonsynonymous SNV P24H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.75 196313 chr20 34146755 34146755 G A rs117085232 FER1L4 0 0 0.017 0 0 0 0 5 0 0 0 0 8.375 196314 chr6 4116143 4116143 C T rs143350712 ECI2 Nonsynonymous SNV V354M 0.002 0 0 0 2 0 0 0 0 0 0 0 23 196315 chr20 35075134 35075134 C T rs542226781 DLGAP4 Nonsynonymous SNV A481V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.6 196316 chr20 35696518 35696518 C A RBL1 Nonsynonymous SNV R121L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 196317 chr20 368761 368761 G A rs139296889 TRIB3 Nonsynonymous SNV R36Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19 196318 chr6 42633962 42633962 T C UBR2 Nonsynonymous SNV F1287S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 196319 chr16 87493648 87493648 C T rs140465276 ZCCHC14 Synonymous SNV S220S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.54 196320 chr20 40052259 40052259 A G rs753767464 CHD6 Synonymous SNV F1476F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 196321 chr16 88498490 88498490 G A rs200684392 ZNF469 Nonsynonymous SNV A1538T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 196322 chr15 41483747 41483747 C T EXD1 Nonsynonymous SNV G195S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.8 196323 chr7 148876461 148876461 C T rs146774123 ZNF398 Synonymous SNV I499I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 196324 chr7 102957384 102957384 T C rs61762984 DNAJC2 Synonymous SNV T387T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.698 196325 chr16 88870972 88870972 C T rs139038990 CDT1 Nonsynonymous SNV P83L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 14.79 196326 chr16 88871230 88871230 C T rs149361322 CDT1 Nonsynonymous SNV R138W 0 0 0 2 0 0 0.005 0 0 0 0 0 18.66 196327 chr20 47679880 47679880 T G rs145805814 CSE1L Nonsynonymous SNV I76S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 196328 chr7 151097265 151097265 C T rs199824863 WDR86 Nonsynonymous SNV D76N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 196329 chr7 154561182 154561182 C T rs143455186 DPP6 Synonymous SNV L206L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 8.162 196330 chr6 123070446 123070446 T C FABP7 Nonsynonymous SNV S10P 0 0.005 0 0 0 2 0 0 0 0 0 0 1.327 196331 chr15 43317123 43317123 A G rs1004285144 UBR1 Synonymous SNV L881L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.766 196332 chr20 55929820 55929820 G A rs771599526 RAE1 Nonsynonymous SNV S48N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 196333 chr6 129571337 129571337 C A rs776457288 LAMA2 Synonymous SNV L621L 0 0.008 0 0 0 3 0 0 0 0 0 0 10.36 196334 chr6 53363724 53363724 C T rs965427186 GCLC Nonsynonymous SNV A544T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 196335 chr20 57016040 57016042 TTC - rs566283411 VAPB S160del 0 0 0.007 0 0 0 0 2 0 0 0 0 196336 chr5 54468432 54468436 CTTCT - rs137940833 CDC20B R36Sfs*11 0.003 0 0 3 4 0 0.008 0 0 0 0 0 196337 chr15 45409897 45409897 G C rs746763725 DUOXA1 Nonsynonymous SNV S378W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 196338 chr20 60419845 60419845 G A CDH4 Nonsynonymous SNV R196K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.473 196339 chr15 49076171 49076171 G A rs372008720 CEP152 Synonymous SNV S440S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 196340 chr15 52510825 52510825 A C rs62618748 MYO5C Nonsynonymous SNV I1282S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 196341 chr15 52699509 52699509 C G MYO5A Nonsynonymous SNV R309T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 196342 chr6 148869636 148869636 G T rs61996289 SASH1 Nonsynonymous SNV R990I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 22.7 196343 chr15 52901988 52901988 C G rs202140626 FAM214A Nonsynonymous SNV A382P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 196344 chr22 21998445 21998445 C T rs144265283 SDF2L1 Nonsynonymous SNV A216V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.65 196345 chr20 61834806 61834806 C T YTHDF1 Synonymous SNV V162V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.956 196346 chr15 56386722 56386722 C T rs772102236 RFX7 Synonymous SNV G971G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 196347 chr6 76412690 76412690 A C SENP6 Nonsynonymous SNV E866A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.29 196348 chr20 62196853 62196853 G A rs145788793 HELZ2 Nonsynonymous SNV R539W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 196349 chr7 29923604 29923604 C T rs200642657 WIPF3 Nonsynonymous SNV A165V 0.004 0.013 0.003 1 5 5 0.003 1 0 0 0 0 0.002 196350 chr7 299769 299769 C T rs140924363 FAM20C Synonymous SNV A526A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.71 196351 chr17 3947601 3947601 C G rs151149603 ZZEF1 Nonsynonymous SNV G2028A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 196352 chr15 62995056 62995056 G A rs144036109 TLN2 Nonsynonymous SNV R666Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 196353 chr17 4647375 4647375 G A rs762535631 ZMYND15 Nonsynonymous SNV V490I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 196354 chr21 16337702 16337702 G A NRIP1 Stop gain Q938X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 196355 chr17 5086962 5086962 T C rs750199608 ZNF594 Nonsynonymous SNV N197S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 196356 chr15 65994217 65994217 G A rs368001036 DENND4A Synonymous SNV R814R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 196357 chr7 100218710 100218710 C T rs776047688 TFR2 Nonsynonymous SNV D555N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 196358 chr7 42065881 42065881 A G rs370794111 GLI3 Nonsynonymous SNV F387L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 196359 chr7 42187851 42187851 C T rs146458902 GLI3 Nonsynonymous SNV R114K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 26.7 196360 chr7 100490136 100490136 C T rs148991713 ACHE Nonsynonymous SNV A458T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.27 196361 chr7 44148522 44148522 C T rs141003956 AEBP1 Nonsynonymous SNV P322L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 196362 chr6 165956959 165956959 T C rs6924943 PDE10A Synonymous SNV K55K 0 0.01 0 0 0 4 0 0 0 0 0 0 Benign 5.261 196363 chr17 7132733 7132733 T C DVL2 Nonsynonymous SNV M261V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 196364 chr17 7216564 7216564 T C rs144209448 GPS2 Synonymous SNV E257E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.372 196365 chr7 1479676 1479676 C T rs181284121 MICALL2 Synonymous SNV A617A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.54 196366 chr17 7319223 7319223 C T rs766805341 NLGN2 Synonymous SNV P477P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.87 196367 chr7 148516722 148516722 T C rs151023145 EZH2 Nonsynonymous SNV N278S 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 4.685 196368 chr17 7320879 7320879 C T NLGN2 Nonsynonymous SNV P757S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 196369 chr6 170181548 170181548 G T rs117593791 ERMARD Nonsynonymous SNV S533I 0 0.008 0 0 0 3 0 0 0 0 0 0 Likely benign 18.8 196370 chr7 4843220 4843231 GGGCTGCCGGGG - rs769367684 RADIL P816_P819del 0 0.003 0 0 0 1 0 0 0 0 0 0 196371 chr15 78486878 78486878 G C rs374000947 ACSBG1 Synonymous SNV L141L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 196372 chr15 79277361 79277361 T A rs889428370 RASGRF1 Nonsynonymous SNV K366N 0.001 0 0 0 1 0 0 0 0 0 0 0 30 196373 chr15 81188298 81188298 A C rs749751432 CEMIP Synonymous SNV G436G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.359 196374 chr17 9541982 9541982 A G rs146979019 CFAP52 Nonsynonymous SNV Y442C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 28.2 196375 chr7 154876137 154876137 T C rs762777494 HTR5A Synonymous SNV Y338Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 196376 chr15 81631792 81631792 A G rs753927656 TMC3 Nonsynonymous SNV L633P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 196377 chr17 10222462 10222462 G A rs61745304 MYH13 Nonsynonymous SNV A1128V 0 0.008 0.007 1 0 3 0.003 2 0 0 0 0 24.8 196378 chr22 40045809 40045809 A T rs768578986 CACNA1I Nonsynonymous SNV D589V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.515 196379 chr6 26273263 26273263 C A H2BC10 Synonymous SNV T20T 0 0.008 0 0 0 3 0 0 0 0 0 0 11.47 196380 chr15 85234774 85234774 C G rs749734813 SEC11A Synonymous SNV V51V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 196381 chr15 85400618 85400618 G A rs115903792 ALPK3 Synonymous SNV P883P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.656 196382 chr22 42305775 42305775 G A rs534169843 SHISA8 Synonymous SNV T396T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.08 196383 chr7 100648184 100648184 G A rs374711314 MUC12 Synonymous SNV A4780A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.611 196384 chr7 100701287 100701287 C T rs148704443 MUC17 Stop gain R4482X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 196385 chr7 73011771 73011771 C T rs372996225 MLXIPL Synonymous SNV P448P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.37 196386 chr7 73526308 73526308 C T rs377306326 LIMK1 Nonsynonymous SNV H430Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.98 196387 chr7 105183082 105183082 A T rs144996870 RINT1 Nonsynonymous SNV Q89H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.204 196388 chr21 46842500 46842500 C T rs78833614 COL18A1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 4.05 196389 chr6 31105858 31105858 G - rs373592714 PSORS1C2 P94Lfs*35 0.002 0.021 0 4 2 8 0.01 0 1 4 0 2 196390 chr17 17931951 17931951 A G rs370797755 ATPAF2 Synonymous SNV N52N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.985 196391 chr21 46951578 46951578 G C rs572974130 SLC19A1 Nonsynonymous SNV S185W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 196392 chr7 107674710 107674710 G A rs763845029 LAMB4 Synonymous SNV N1587N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.144 196393 chr5 132652244 132652244 G T rs200921311 FSTL4 Nonsynonymous SNV D170E 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.677 196394 chr7 112412842 112412842 G A rs151117601 TMEM168 Synonymous SNV L514L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.589 196395 chr21 47734750 47734750 G A rs373819859 C21orf58 Synonymous SNV S57S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.672 196396 chr15 90294227 90294227 A G rs768730205 MESP1 Nonsynonymous SNV L79P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 196397 chr7 117243774 117243774 A T rs397508444 CFTR Nonsynonymous SNV H949L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 28.3 196398 chr7 30491372 30491372 G A rs5743344 NOD1 Nonsynonymous SNV A554V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 196399 chr7 122047655 122047655 C T CADPS2 Synonymous SNV P889P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 18.53 196400 chr6 132966601 132966601 C A rs200695328 TAAR1 Nonsynonymous SNV G181V 0.003 0 0 0 3 0 0 0 0 0 0 0 1.433 196401 chr22 18463636 18463636 C G rs553067993 MIR648 0 0 0.003 0 0 0 0 1 0 0 0 0 4.31 196402 chr22 19226874 19226874 T C rs147685377 CLTCL1 Nonsynonymous SNV N240S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 21.4 196403 chr7 35057547 35057547 G A rs540553607 DPY19L1 Nonsynonymous SNV H120Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 196404 chr15 99500578 99500578 C T rs201864381 IGF1R Synonymous SNV R1337R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.174 196405 chr6 144183269 144183269 T C rs77708266 LTV1 Synonymous SNV L139L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.951 196406 chr6 146127406 146127406 C A rs34421515 FBXO30 Nonsynonymous SNV A46S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.09 196407 chr22 23523475 23523475 G T rs753267590 BCR Nonsynonymous SNV A110S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.334 196408 chr6 147525658 147525658 C A rs753321561 STXBP5-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.24 196409 chr2 101624346 101624346 G A rs376295678 TBC1D8 Synonymous SNV Y1120Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.924 196410 chr6 39693044 39693044 G C rs536274915 KIF6 Nonsynonymous SNV P15A 0 0.008 0 0 0 3 0 0 0 0 0 0 10.7 196411 chr7 135258419 135258419 G C rs150567613 NUP205 Nonsynonymous SNV Q63H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.038 196412 chr22 26693026 26693026 C A rs146559583 SEZ6L Nonsynonymous SNV T381N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.48 196413 chr8 110257673 110257673 A G rs751744029 NUDCD1 Nonsynonymous SNV I417T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.294 196414 chr22 30888093 30888093 A G rs373959559 SEC14L4 Synonymous SNV P238P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.01 196415 chr22 30928596 30928596 G C SEC14L6 Synonymous SNV L113L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.929 196416 chr8 113326278 113326278 G C rs200501309 CSMD3 Nonsynonymous SNV P2318R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 196417 chr22 31743032 31743032 A C rs9609261 LINC01521 0 0 0.003 0 0 0 0 1 0 0 0 0 4.237 196418 chr2 122106283 122106283 C T rs761653847 CLASP1 Synonymous SNV A1339A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.41 196419 chr17 39034401 39034401 C T rs201795565 KRT20 Nonsynonymous SNV V379I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.069 196420 chr8 125580754 125580754 A G rs201972430 MTSS1 Synonymous SNV L162L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.162 196421 chr7 148963963 148963963 C A ZNF783 Synonymous SNV G158G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 196422 chr2 133541696 133541696 C A rs775136208 NCKAP5 Synonymous SNV R896R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.74 196423 chr17 39183266 39183266 G A rs760048799 KRTAP1-5 Nonsynonymous SNV P48S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.276 196424 chr22 39770500 39770500 G A rs35429467 SYNGR1 Synonymous SNV P93P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 196425 chr22 39822851 39822851 C T rs36044118 TAB1 Synonymous SNV H355H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.32 196426 chr22 39907422 39907422 C T rs34686225 MIEF1 Synonymous SNV I41I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 196427 chr17 39471829 39471829 T C rs370672928 KRTAP17-1 Nonsynonymous SNV Q25R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 196428 chr6 7378978 7378978 G A rs45437691 CAGE1 Nonsynonymous SNV P51S 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 7.562 196429 chr7 150711203 150711203 G A rs148530358 NOS3 Synonymous SNV R1186R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.664 196430 chr22 43539166 43539166 G C rs200589055 MCAT Synonymous SNV S63S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 196431 chr17 39727894 39727894 A G rs115965791 KRT9 Synonymous SNV G117G 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.15 196432 chr6 76063290 76063290 G A rs368134961 FILIP1 Synonymous SNV D198D 0.001 0.01 0 0 1 4 0 0 0 0 0 0 11.31 196433 chr6 76618299 76618299 A G rs189411232 MYO6 Nonsynonymous SNV N1100D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 19.66 196434 chr6 84234041 84234041 G T PRSS35 Nonsynonymous SNV G294V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.3 196435 chr16 8736008 8736008 C T METTL22 Nonsynonymous SNV S284L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 196436 chr17 43299581 43299581 C T rs767490114 FMNL1 Synonymous SNV P30P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 196437 chr7 27797682 27797682 G A rs79805575 TAX1BP1 Synonymous SNV T65T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.62 196438 chr16 21289563 21289563 C A rs766675674 CRYM Nonsynonymous SNV V4L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 196439 chr8 146033730 146033730 G C rs117733286 ZNF517 Nonsynonymous SNV E470Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.29 196440 chr7 36671674 36671674 C T rs553727878 AOAH Synonymous SNV P131P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 196441 chr17 56280551 56280551 T C rs530520940 EPX Synonymous SNV Y606Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.068 196442 chr16 24829921 24829921 C T TNRC6A Synonymous SNV S1611S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.13 196443 chr17 56383204 56383204 C T rs148464443 TSPOAP1 Synonymous SNV Q1689Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.65 196444 chr2 107449037 107449037 G A rs1012402259 ST6GAL2 Nonsynonymous SNV S376F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 196445 chr7 43917609 43917609 - T URGCP Frameshift insertion D476Rfs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 196446 chr2 113088840 113088840 C T rs769924975 ZC3H6 Nonsynonymous SNV A782V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 196447 chr8 22414242 22414242 C T rs762185000 SORBS3 Stop gain Q79X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 196448 chr17 67014579 67014579 G A rs773314386 ABCA9 Synonymous SNV T914T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.187 196449 chr2 122488473 122488473 G A rs772627155 NIFK Nonsynonymous SNV S187F 0 0 0.007 0 0 0 0 2 0 0 0 0 21.9 196450 chr16 48125078 48125078 T C rs762919275 ABCC12 Nonsynonymous SNV T1080A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 196451 chr2 198257705 198257705 A G rs781138041 SF3B1 Synonymous SNV Y1249Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.556 196452 chr16 48125079 48125079 C T rs774434636 ABCC12 Synonymous SNV E1079E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.16 196453 chr2 128389269 128389269 G A rs375353272 MYO7B Synonymous SNV P1704P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.914 196454 chr17 71357959 71357959 G A rs759674807 SDK2 Synonymous SNV D1777D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 196455 chr17 71375642 71375642 G A rs78145056 SDK2 Synonymous SNV N1603N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12 196456 chr17 71382022 71382022 C T rs117291342 SDK2 Synonymous SNV T1511T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.98 196457 chr17 71382049 71382049 A G rs78185984 SDK2 Synonymous SNV D1502D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.024 196458 chr17 71383998 71383998 A G rs115502230 SDK2 Synonymous SNV N1457N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.67 196459 chr17 71384080 71384080 G C rs2270724 SDK2 Nonsynonymous SNV S1430C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 196460 chr17 71397286 71397286 G A rs79432016 SDK2 Synonymous SNV N948N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.49 196461 chr2 135745374 135745374 C T rs148740248 MAP3K19 Synonymous SNV T243T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 196462 chr7 104703902 104703902 T C rs371844872 KMT2E Synonymous SNV F97F 0.005 0.021 0.003 0 6 8 0 1 0 0 0 0 1.368 196463 chr7 107704310 107704310 C T rs373346464 LAMB4 Nonsynonymous SNV R986Q 0 0.008 0 0 0 3 0 0 0 0 0 0 17.94 196464 chr16 57416003 57416003 G A rs140008646 CX3CL1 Nonsynonymous SNV A85T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 196465 chr2 204045200 204045200 T A NBEAL1 Nonsynonymous SNV F2158Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 196466 chr17 72741027 72741027 G A rs137872401 RAB37 Nonsynonymous SNV E113K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 196467 chr17 72863013 72863013 G T rs750088246 FDXR Nonsynonymous SNV P98T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.121 196468 chr7 73008680 73008680 C T rs138383808 MLXIPL Synonymous SNV T788T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 196469 chr7 73097102 73097102 T C rs782246935 DNAJC30 Nonsynonymous SNV I218V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 196470 chr16 71718462 71718462 A C rs767364911 PHLPP2 Nonsynonymous SNV S218A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 196471 chr2 1684065 1684065 G A rs370951442 PXDN Synonymous SNV Y210Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.985 196472 chr16 72821386 72821386 G A ZFHX3 Nonsynonymous SNV P2683S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 196473 chr7 133164869 133164869 A G rs749115364 EXOC4 Nonsynonymous SNV Y465C 0 0.008 0 0 0 3 0 0 0 0 0 0 24.4 196474 chr2 170061989 170061989 A G LRP2 Nonsynonymous SNV L2572P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 196475 chr2 170066144 170066144 G A rs748160339 LRP2 Synonymous SNV N2096N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.632 196476 chr8 146278253 146278255 AGA - rs549434100 C8orf33 E98del 0.003 0 0 0 3 0 0 0 0 0 0 0 196477 chr7 135312745 135312745 A C rs372349240 NUP205 Synonymous SNV P1248P 0 0.008 0 0 0 3 0 0 0 0 0 0 6.549 196478 chr16 75646645 75646645 G T rs772112583 ADAT1 Nonsynonymous SNV P93H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 196479 chr8 72755814 72755814 G T rs10101759 MSC-AS1 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 9.741 196480 chr16 81056395 81056395 A G rs138454126 CENPN Synonymous SNV Q189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.749 196481 chr7 912892 912892 G A rs199515429 SUN1 Nonsynonymous SNV R658Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 34 196482 chr16 81888159 81888159 A T PLCG2 Nonsynonymous SNV T102S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.173 196483 chr2 179563643 179563643 - A rs769178511 TTN 0 0 0.031 1 0 0 0.003 9 0 0 0 0 196484 chr2 179612313 179612313 C T TTN Nonsynonymous SNV M4938I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.75 196485 chr7 142636691 142636691 C T rs530259541 LLCFC1 Synonymous SNV G16G 0 0.008 0 0 0 3 0 0 0 0 0 0 12.12 196486 chr7 99204402 99204402 C G rs143657846 TMEM225B Synonymous SNV L80L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.083 196487 chr16 84224968 84224973 GCCCGC - rs745979380 ADAD2 P49_A50del 0.001 0 0 0 1 0 0 0 0 0 0 0 196488 chr9 100116906 100116906 C T rs775007694 CCDC180 Stop gain R1064X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 196489 chr9 100372721 100372721 C T TSTD2 Nonsynonymous SNV G248R 0 0.003 0 0 0 1 0 0 0 0 0 0 28 196490 chr7 148701236 148701236 C T rs148077813 PDIA4 Nonsynonymous SNV V531M 0.002 0.016 0.003 0 2 6 0 1 0 0 0 0 27.1 196491 chr2 186660582 186660582 G A rs1015511649 FSIP2 Nonsynonymous SNV E2907K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 196492 chr8 10467807 10467807 G T RP1L1 Stop gain C1267X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.9 196493 chr17 79984885 79984885 C G rs779588893 LRRC45 Nonsynonymous SNV Q258E 0 0 0 1 0 0 0.003 0 0 0 0 0 24 196494 chr17 80012485 80012485 G A GPS1 Synonymous SNV L136L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 196495 chr17 80399107 80399107 G A HEXD Nonsynonymous SNV C406Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 196496 chr8 2949101 2949101 A T rs199698448 CSMD1 Nonsynonymous SNV L2408I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.576 196497 chr2 198175313 198175313 G C ANKRD44 Nonsynonymous SNV L6V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 196498 chr7 151267292 151267292 T A rs397517260 PRKAG2 Synonymous SNV T116T 0 0.008 0 0 0 3 0 0 0 0 0 0 Likely benign 16.34 196499 chr2 202359462 202359462 G A rs577697309 C2CD6 Synonymous SNV N534N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 3.042 196500 chr8 37822788 37822788 G T rs200932964 ADRB3 Synonymous SNV L400L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.975 196501 chr2 202901092 202901092 A T FZD7 Synonymous SNV V574V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 196502 chr8 121379448 121379448 G A rs773249922 COL14A1 Nonsynonymous SNV V1706I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 196503 chr8 41551505 41551505 C T rs771237247 ANK1 Nonsynonymous SNV R1148Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 29.9 196504 chr9 116791233 116791233 G A rs187064298 ZNF618 Synonymous SNV P323P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.73 196505 chr17 650415 650415 C T GEMIN4 Nonsynonymous SNV A290T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 196506 chr2 210678454 210678454 G A UNC80 Synonymous SNV L363L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.142 196507 chr17 3030414 3030414 G A rs147119909 OR1G1 Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 196508 chr18 28576966 28576966 C T rs769357519 DSC3 Nonsynonymous SNV G762S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 196509 chr9 124519346 124519346 C T DAB2IP Synonymous SNV S15S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.05 196510 chr2 242572423 242572423 G A rs776791686 THAP4 Synonymous SNV S383S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.14 196511 chr2 219144798 219144798 C G rs750928581 TMBIM1 Nonsynonymous SNV G85A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.844 196512 chr17 3628527 3628527 C A rs139272282 HASPIN Nonsynonymous SNV P433Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.303 196513 chr9 127300480 127300480 G T rs145792853 NR6A1 Nonsynonymous SNV L235M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 196514 chr2 220366630 220366630 C T rs779526489 GMPPA Synonymous SNV D100D 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 14.51 196515 chr2 27429366 27429366 A G rs781653952 SLC5A6 Synonymous SNV L166L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.221 196516 chr2 27430398 27430398 C T rs760064727 SLC5A6 Nonsynonymous SNV A41T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 196517 chr8 144893445 144893445 G A rs754588906 SCRIB Nonsynonymous SNV A326V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.277 196518 chr17 6674005 6674005 T C XAF1 Nonsynonymous SNV V114A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 196519 chr9 133759953 133759953 A C ABL1 Nonsynonymous SNV K759T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 196520 chr17 7343049 7343049 C T rs370206139 FGF11 Nonsynonymous SNV S37F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 196521 chr2 234728611 234728611 C T rs28900688 MROH2A Nonsynonymous SNV R1141C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 196522 chr6 160489348 160489348 A T rs2230048 IGF2R Nonsynonymous SNV T1395S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.11 196523 chr2 235950883 235950883 G A rs34177695 SH3BP4 Synonymous SNV T490T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 6.94 196524 chr2 235950928 235950928 G C rs35766016 SH3BP4 Synonymous SNV L505L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 0.086 196525 chr2 235951759 235951759 G A rs79192381 SH3BP4 Synonymous SNV P782P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.825 196526 chr17 7758869 7758869 C T TMEM88 Nonsynonymous SNV A106V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 196527 chr2 236659110 236659110 T C rs112666282 AGAP1 Synonymous SNV N217N 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 7.352 196528 chr17 7838343 7838343 A G rs371958721 CNTROB Synonymous SNV S158S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.143 196529 chr2 238486700 238486700 G A RAB17 Nonsynonymous SNV L86F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 196530 chr8 146033023 146033023 C G rs145328614 ZNF517 Nonsynonymous SNV A234G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 196531 chr9 136905308 136905316 CTTCTCCTT - rs760373011 BRD3 K495_K497del 0 0.005 0 0 0 2 0 0 0 0 0 0 196532 chr17 10432210 10432210 G A rs201768483 MYH2 Nonsynonymous SNV R1181C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.8 196533 chr19 758166 758166 C - MISP A407Gfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 196534 chr19 763536 763536 C T rs570789041 MISP Synonymous SNV N662N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.25 196535 chr19 964424 964424 C A rs763299140 ARID3A Synonymous SNV R315R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.8 196536 chr2 242795109 242795109 G T rs763228671 PDCD1 Nonsynonymous SNV P34T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.265 196537 chr9 140069767 140069767 G A ANAPC2 Synonymous SNV N726N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.38 196538 chr9 140093591 140093591 G A rs138547889 TPRN Nonsynonymous SNV R525W 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.1 196539 chr9 140110375 140110375 G A rs764489696 NDOR1 Nonsynonymous SNV R453H 0.005 0.01 0 1 6 4 0.003 0 0 0 0 0 34 196540 chr9 140243678 140243678 G A rs200918724 EXD3 Nonsynonymous SNV R572C 0.006 0.013 0 1 7 5 0.003 0 0 0 0 0 23 196541 chr9 140330686 140330686 C T rs374954672 ENTPD8 Nonsynonymous SNV G277S 0.004 0.01 0 1 5 4 0.003 0 0 0 0 0 29.1 196542 chr9 140509414 140509414 T - ARRDC1 L401Ffs*58 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 196543 chr19 1255589 1255589 C T rs775164553 MIDN Nonsynonymous SNV A342V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 196544 chr9 15578863 15578863 G A rs79217038 CCDC171 Nonsynonymous SNV S65N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23 196545 chr7 91652317 91652317 C T rs148726562 AKAP9 Nonsynonymous SNV P1381L 0 0.008 0 0 0 3 0 0 0 0 0 0 14.04 196546 chr8 25715984 25715984 C A rs754441152 EBF2 Nonsynonymous SNV G460V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 196547 chr7 94996760 94996760 C A rs137988495 PON3 Nonsynonymous SNV M136I 0 0.008 0 0 0 3 0 0 0 0 0 0 17.08 196548 chr2 33150684 33150684 T G rs539002965 LINC00486 0 0 0.007 0 0 0 0 2 0 0 0 0 0.112 196549 chr19 2878012 2878012 C T rs148273431 ZNF556 Synonymous SNV S351S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.12 196550 chr19 3746491 3746491 T A rs148817261 TJP3 Nonsynonymous SNV H673Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 196551 chr7 15725967 15725967 G T rs144533382 MEOX2 Nonsynonymous SNV P21T 0.004 0 0.007 0 5 0 0 2 0 0 0 0 23 196552 chr17 27051626 27051626 C T rs377224480 TLCD1 Nonsynonymous SNV V169M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 196553 chr2 43452881 43452881 G A ZFP36L2 Nonsynonymous SNV S21F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 196554 chr7 20687237 20687237 G C ABCB5 Nonsynonymous SNV G354A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 196555 chr2 47635541 47635541 A G rs878853808 MSH2 Synonymous SNV G71G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.078 196556 chr8 39091558 39091558 A T rs769536164 ADAM32 Nonsynonymous SNV D493V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 196557 chr8 42823352 42823352 A C HOOK3 Synonymous SNV R373R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.339 196558 chr8 48650071 48650071 G A rs35029833 CEBPD Synonymous SNV A204A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 196559 chr9 6604646 6604646 A G rs149133229 GLDC Nonsynonymous SNV F334L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 196560 chr17 33481639 33481639 A G rs199559641 UNC45B Nonsynonymous SNV E173G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 196561 chr9 136029101 136029101 G A rs202240295 GBGT1 Nonsynonymous SNV R286C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 196562 chr8 113249519 113249519 T C rs955827519 CSMD3 Synonymous SNV G3309G 0 0.005 0 0 0 2 0 0 0 0 0 0 2.134 196563 chr9 136314931 136314931 C T rs148031420 ADAMTS13 Synonymous SNV S963S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.44 196564 chr2 66667702 66667702 A G MEIS1 Synonymous SNV A130A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 196565 chr8 69351865 69351865 A G rs145190607 C8orf34 Synonymous SNV A153A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.702 196566 chr8 70594467 70594467 A G SLCO5A1 Synonymous SNV F523F 0.003 0 0 0 4 0 0 0 0 0 0 0 11.51 196567 chr17 37824809 37824809 C - PNMT Q28Sfs*72 0.001 0 0 0 1 0 0 0 0 0 0 0 196568 chr3 110852718 110852718 G A rs149156497 NECTIN3 Nonsynonymous SNV G436R 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 25.9 196569 chr19 6678035 6678035 C T rs112179814 C3 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 196570 chr2 74007179 74007179 A G rs770537593 DUSP11 Nonsynonymous SNV S22P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.634 196571 chr2 74900818 74900818 G A SEMA4F Nonsynonymous SNV A196T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 196572 chr19 7986598 7986598 G A rs1055014035 SNAPC2 Synonymous SNV T104T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.42 196573 chr2 85360828 85360828 - GGCGGC rs769216273 TCF7L1 G14_S15insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 196574 chr9 139925758 139925758 G A rs537091176 FUT7 Nonsynonymous SNV R145C 0.002 0 0 0 2 0 0 0 0 0 0 0 19.56 196575 chr9 100692830 100692830 C T HEMGN Nonsynonymous SNV E283K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 196576 chr9 101894792 101894792 A G rs766347880 TGFBR1 Synonymous SNV V119V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.35 196577 chr9 103054953 103054953 - G INVS Frameshift insertion A480Gfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 196578 chr2 98375379 98375379 C T rs376925069 TMEM131 Nonsynonymous SNV G1782S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.81 196579 chrX 108695332 108695332 G A rs55998367 GUCY2F Synonymous SNV I464I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.844 196580 chr8 144640224 144640224 C T LOC100310756 0 0.003 0 0 0 1 0 0 0 0 0 0 4.455 196581 chr9 107298551 107298551 C T rs758735703 OR13C3 Nonsynonymous SNV G182S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 196582 chrX 115303764 115303764 G T rs138706948 AGTR2 Nonsynonymous SNV K77N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 22.5 196583 chr9 107457556 107457556 - TGAA rs113720443 OR13D1 Frameshift insertion S286Efs*16 0.002 0 0 0 2 0 0 0 0 0 0 0 196584 chr19 9045617 9045617 A G MUC16 Nonsynonymous SNV L12005P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 196585 chr3 124117549 124117549 C T rs145790621 KALRN Nonsynonymous SNV S724L 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 24.4 196586 chr17 39963102 39963102 G A rs781905184 P3H4 Synonymous SNV A364A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 196587 chrX 131202338 131202338 C T rs139634080 STK26 Synonymous SNV H142H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.442 196588 chr3 11067527 11067527 C T rs775332356 SLC6A1 Synonymous SNV L128L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 196589 chrX 135432330 135432330 A G rs757259341 ADGRG4 Synonymous SNV S2155S 0.005 0.003 0 0 6 1 0 0 2 0 0 0 5.455 196590 chr17 41063361 41063361 C T rs149486847 G6PC Nonsynonymous SNV A331V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.2 196591 chr3 11300939 11300939 G A rs778455604 HRH1 Synonymous SNV A72A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.59 196592 chr9 116175854 116175854 T C rs367881038 C9orf43 Synonymous SNV T27T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.303 196593 chr8 145114868 145114868 G A OPLAH Nonsynonymous SNV A23V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25.3 196594 chr3 113329877 113329877 C T rs145960933 SIDT1 Synonymous SNV I519I 0 0 0.007 0 0 0 0 2 0 0 0 0 18.4 196595 chr3 113378610 113378610 G A rs183889251 USF3 Nonsynonymous SNV P640L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 196596 chr17 42476653 42476653 G T rs769916673 GPATCH8 Nonsynonymous SNV S853Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 196597 chr3 129155576 129155576 C T MBD4 Nonsynonymous SNV S304N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 196598 chr17 42476654 42476654 A C rs775499902 GPATCH8 Nonsynonymous SNV S853A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 196599 chr9 119461299 119461299 A G rs754192979 TRIM32 Synonymous SNV L426L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 196600 chr9 120053764 120053764 C T rs377082778 ASTN2 Synonymous SNV S157S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 196601 chr17 44791322 44791322 T C rs11537609 NSF Synonymous SNV S577S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.729 196602 chr9 38413239 38413239 T C rs201785046 IGFBPL1 Nonsynonymous SNV I228V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.863 196603 chr19 10662797 10662797 G C rs141346756 ATG4D Nonsynonymous SNV E311D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 196604 chr3 122459377 122459377 A G rs141148831 HSPBAP1 Synonymous SNV L400L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.112 196605 chr19 10908077 10908077 C T rs147668465 DNM2 Synonymous SNV D406D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 12.82 196606 chrX 39933399 39933399 G A rs139834626 BCOR Synonymous SNV G400G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.186 196607 chrX 40594970 40594970 G A rs775278562 MED14OS Synonymous SNV T90T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.14 196608 chrX 41469235 41469235 C T rs145641295 CASK Synonymous SNV A353A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.14 196609 chr8 18729178 18729178 T C rs367584558 PSD3 Nonsynonymous SNV Q366R 0.003 0.013 0 1 3 5 0.003 0 0 0 0 0 3.684 196610 chr19 11686037 11686037 C G rs146196342 ACP5 Nonsynonymous SNV V256L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.26 196611 chrX 49021311 49021311 C T rs782308591 MAGIX Synonymous SNV R130R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.6 196612 chrX 49104722 49104722 G A rs113045747 CCDC22 Nonsynonymous SNV R388H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 24.6 196613 chr9 129937020 129937020 G A rs55918931 RALGPS1 Nonsynonymous SNV S290N 0.005 0 0 1 6 0 0.003 0 0 0 0 0 19.95 196614 chr3 126740963 126740963 C T PLXNA1 Synonymous SNV F1358F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 196615 chr19 12978732 12978732 G T rs566685039 MAST1 Nonsynonymous SNV R836L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.88 196616 chr3 127379313 127379313 A G rs143584641 PODXL2 Nonsynonymous SNV K148E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 196617 chr3 128292315 128292315 G A LINC01565 0 0 0.003 0 0 0 0 1 0 0 0 0 1.105 196618 chr3 12858415 12858415 C T rs375533940 CAND2 Nonsynonymous SNV R569W 0 0 0.01 0 0 0 0 3 0 0 0 0 33 196619 chr9 13140089 13140089 G T rs181931493 MPDZ Synonymous SNV P1267P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.27 196620 chrX 69458164 69458164 G C rs763189515 AWAT1 Nonsynonymous SNV S188T 0.001 0.013 0 1 1 5 0.003 0 0 2 0 0 23.8 196621 chr9 91995988 91995988 C T rs150298124 SEMA4D Nonsynonymous SNV D549N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.83 196622 chr17 59946672 59946672 T G rs778012673 INTS2 Nonsynonymous SNV I1034L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 196623 chr17 61559843 61559843 C T rs750724647 ACE Nonsynonymous SNV R379W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.2 196624 chr17 61561719 61561719 C A rs759719543 ACE Nonsynonymous SNV P580T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.5 196625 chrX 71876093 71876093 C G PHKA1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.4 196626 chr9 133370297 133370297 C T rs749554993 ASS1 Synonymous SNV I338I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 19.87 196627 chr3 132047201 132047201 A G ACPP Nonsynonymous SNV T71A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 196628 chr17 62290403 62290403 T G TEX2 Nonsynonymous SNV D392A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 196629 chrX 100505962 100505962 G A rs138040503 DRP2 Synonymous SNV E507E 0.003 0 0.01 0 4 0 0 3 0 0 1 0 Benign 7.543 196630 chr10 101515384 101515384 A G rs770087814 CUTC Nonsynonymous SNV N237S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.27 196631 chr3 138025245 138025245 T C NME9 Nonsynonymous SNV M117V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.009 196632 chr3 138178875 138178875 C T rs17857138 ESYT3 Nonsynonymous SNV P246L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 196633 chrX 109943904 109943904 C T rs189640632 CHRDL1 Nonsynonymous SNV R116Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.3 196634 chr19 16860298 16860298 G A rs200643172 NWD1 Nonsynonymous SNV R76H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 196635 chr8 11407690 11407690 C T rs73663163 BLK Nonsynonymous SNV R60W 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.3 196636 chr19 17169503 17169503 A C rs200798386 HAUS8 Synonymous SNV L166L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 196637 chr17 72350952 72350952 C T KIF19 Nonsynonymous SNV P913L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.714 196638 chr8 11706596 11706596 C G rs138936863 CTSB Synonymous SNV A135A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.51 196639 chr3 150128009 150128009 C T rs370843923 TSC22D2 Nonsynonymous SNV P291L 0 0 0.007 0 0 0 0 2 0 0 0 0 16.99 196640 chr17 72878747 72878747 T G rs754572438 FADS6 Nonsynonymous SNV T151P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 196641 chr19 17622737 17622737 G A rs183992141 PGLS Nonsynonymous SNV D86N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 196642 chr8 62371003 62371003 C T rs142582369 CLVS1 Synonymous SNV S293S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.35 196643 chr17 73727943 73727943 C T rs141916774 ITGB4 Synonymous SNV H422H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 9.197 196644 chr17 73728280 73728280 G A rs773794609 ITGB4 Nonsynonymous SNV G472R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 196645 chr8 66989031 66989031 C T rs138135832 DNAJC5B Synonymous SNV L86L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.48 196646 chr3 159609899 159609899 G A rs149330175 IQCJ-SCHIP1, SCHIP1 Synonymous SNV E212E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 12.72 196647 chr19 18234148 18234148 G A rs201344855 MAST3 Nonsynonymous SNV R145Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.72 196648 chr19 18235116 18235116 C T rs539638448 MAST3 Synonymous SNV V266V 0 0 0 2 0 0 0.005 0 0 0 0 0 16.94 196649 chrX 150349312 150349312 G C rs780441239 GPR50 Nonsynonymous SNV K419N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.34 196650 chr17 73913902 73913902 G A FBF1 Nonsynonymous SNV R806W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 196651 chrX 150912014 150912014 G T CNGA2 Nonsynonymous SNV D347Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26 196652 chrX 151283887 151283887 G A rs756531076 MAGEA10-MAGEA5, MAGEA5 Synonymous SNV S42S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.827 196653 chrX 152663133 152663133 G A PNMA6E Nonsynonymous SNV A392V 0.003 0 0 0 4 0 0 0 0 0 0 0 5.451 196654 chr9 140082906 140082906 C T rs200327224 ANAPC2 Nonsynonymous SNV V27M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 196655 chr19 19371635 19371635 C T rs756622584 HAPLN4 Synonymous SNV K157K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.61 196656 chr19 20215075 20215075 A G rs782736363 ZNF90 Nonsynonymous SNV I11V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.881 196657 chr9 141013155 141013155 C G rs199740482 CACNA1B Nonsynonymous SNV P1989A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.394 196658 chrX 19533211 19533211 G A rs911136448 MAP3K15 Nonsynonymous SNV P57S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 196659 chr8 95262674 95262674 C T rs375369112 GEM Nonsynonymous SNV R252Q 0 0.008 0 0 0 3 0 0 0 0 0 0 27.1 196660 chr19 30106251 30106251 G A rs149646408 POP4 Synonymous SNV A209A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 196661 chr3 185335302 185335302 A G rs748824366 SENP2 Nonsynonymous SNV H382R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 196662 chr17 78092090 78092090 C T rs61736894 GAA Synonymous SNV D860D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.77 196663 chrX 46433907 46433907 G A CHST7 Nonsynonymous SNV A181T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.83 196664 chr9 2622150 2622155 CGGCGG - VLDLR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 196665 chr10 129904900 129904900 A C rs369443627 MKI67 Nonsynonymous SNV V1375G 0.003 0 0 0 4 0 0 0 0 0 0 0 10.62 196666 chr10 133958652 133958652 G A rs190702116 JAKMIP3 Synonymous SNV A474A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.801 196667 chrX 63488439 63488439 G C rs148642933 MTMR8 Nonsynonymous SNV A698G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.32 196668 chr9 33941698 33941698 G A rs751134964 UBAP2 Synonymous SNV I573I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.035 196669 chr9 34623602 34623602 A G rs375123291 ARID3C Nonsynonymous SNV Y229H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 196670 chr3 195594873 195594873 G A rs377360010 TNK2 Nonsynonymous SNV R783C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 26 196671 chr3 37067215 37067215 G A MLH1 Nonsynonymous SNV D18N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.48 196672 chr3 196050848 196050848 G A TM4SF19 Nonsynonymous SNV S131L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.127 196673 chrX 72347474 72347474 T C rs61731423 NAP1L6P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.76 196674 chr18 3188841 3188841 C T MYOM1 Nonsynonymous SNV A226T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.05 196675 chr3 197665491 197665491 T C rs202067997 IQCG Nonsynonymous SNV D148G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 196676 chr18 6947168 6947168 G A rs767561363 LAMA1 Synonymous SNV D2946D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.137 196677 chr18 6961610 6961610 C T rs200639472 LAMA1 Nonsynonymous SNV R2534Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 196678 chr19 37210483 37210483 G A ZNF567 Nonsynonymous SNV C255Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 196679 chr10 16916470 16916470 T C rs376118603 CUBN Nonsynonymous SNV I3047V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 0.001 196680 chr3 39230347 39230347 G A rs758768413 XIRP1 Nonsynonymous SNV T197M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 196681 chr3 33728588 33728588 T C rs143967899 CLASP2 Synonymous SNV P170P 0.002 0 0.017 0 2 0 0 5 0 0 0 0 8.15 196682 chr10 101124724 101124724 G A rs767164861 CNNM1 Nonsynonymous SNV R714Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 196683 chr3 42265142 42265142 A G rs763166847 TRAK1 Synonymous SNV G830G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.248 196684 chr3 42700992 42700992 G A rs370785303 ZBTB47 Nonsynonymous SNV R382Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 196685 chr10 102762544 102762544 C T rs41291476 LZTS2 Synonymous SNV V83V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.62 196686 chr10 23287191 23287191 C T rs148414986 ARMC3 Synonymous SNV P167P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.13 196687 chr10 23393150 23393150 A G rs181802942 MSRB2 Nonsynonymous SNV T66A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 196688 chr10 111893161 111893161 C T rs780037874 ADD3 Nonsynonymous SNV H604Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 196689 chr19 40321080 40321080 T C DYRK1B Nonsynonymous SNV S103G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 196690 chr19 40521590 40521590 T A rs371824172 ZNF546 Nonsynonymous SNV Y779N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 196691 chr19 40834394 40834394 C T rs9973304 C19orf47 Nonsynonymous SNV R159H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 196692 chr9 126135843 126135843 C T rs202133148 CRB2 Synonymous SNV T1011T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 12.9 196693 chr10 32594788 32594788 C T rs41289029 EPC1 Synonymous SNV P75P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.5 196694 chr19 40882567 40882567 C T rs147721393 PLD3 Synonymous SNV G357G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.38 196695 chr9 98221918 98221918 C T PTCH1 Nonsynonymous SNV D899N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 196696 chr9 98270607 98270607 G C rs779791579 PTCH1 Nonsynonymous SNV R13G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.13 196697 chr3 47277065 47277065 C A rs143906701 KIF9 Nonsynonymous SNV V689L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 196698 chr19 42776453 42776453 C T rs891976298 CIC Nonsynonymous SNV A173V 0.003 0 0 4 4 0 0.01 0 0 0 0 0 26.9 196699 chr19 42840447 42840447 C T rs780709754 MEGF8 Nonsynonymous SNV A398V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 196700 chr3 47446142 47446142 A G PTPN23 Nonsynonymous SNV N54D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 196701 chr18 46906046 46906046 T C rs200169598 DYM Synonymous SNV A92A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.175 196702 chr3 48613109 48613109 G A rs765130674 COL7A1 Nonsynonymous SNV R1977C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 196703 chr7 24784263 24784263 G A rs201170133 GSDME Nonsynonymous SNV R108C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 196704 chr8 41522529 41522529 C T rs775194414 ANK1 Nonsynonymous SNV V5I 0.003 0 0 0 3 0 0 0 0 0 0 0 3.522 196705 chr3 50326117 50326117 A G IFRD2 Nonsynonymous SNV V414A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 196706 chr3 50339945 50339945 C T rs144539557 HYAL1 Nonsynonymous SNV R148Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 196707 chr7 27147623 27147623 C T rs371131962 HOXA3 Nonsynonymous SNV G415R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 196708 chrX 147743814 147743814 C T rs782397628 AFF2 Nonsynonymous SNV S185F 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 10.82 196709 chr8 55538964 55538964 A T RP1 Nonsynonymous SNV E841V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 196710 chr9 135863638 135863638 C T rs143926538 GFI1B Nonsynonymous SNV S98L 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Benign 18.01 196711 chrX 2998986 2998986 G A ARSF Nonsynonymous SNV G113D 0.002 0 0 0 2 0 0 0 1 0 0 0 23.9 196712 chr3 56627076 56627076 C T rs369380410 CCDC66 Stop gain Q306X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 38 196713 chr18 72176134 72176134 G A rs149206732 CNDP2 Nonsynonymous SNV A143T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 196714 chr18 72226655 72226655 C T rs200926840 CNDP1 Nonsynonymous SNV T84M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.082 196715 chr3 58728241 58728241 A G rs373314775 C3orf67 Synonymous SNV P742P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.943 196716 chr3 63981292 63981292 C T rs753287298 ATXN7 Synonymous SNV T453T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 8.089 196717 chr3 77614215 77614215 T C rs185792666 ROBO2 Nonsynonymous SNV I598T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.9 196718 chr3 69169168 69169168 T C rs755603865 LMOD3 Nonsynonymous SNV K113R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.043 196719 chr3 69171496 69171496 G A rs555650704 LMOD3 Synonymous SNV L14L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 10.14 196720 chr19 618505 618505 G A rs145049239 POLRMT Synonymous SNV T1135T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.831 196721 chr3 95374223 95374223 A G rs9839680 MTHFD2P1 0 0 0.01 0 0 0 0 3 0 0 0 0 4.199 196722 chr3 95374308 95374308 T A rs9844012 MTHFD2P1 0 0 0.024 0 0 0 0 7 0 0 0 0 5.725 196723 chr9 101073443 101073443 C T rs79484588 GABBR2 Synonymous SNV E646E 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 13.28 196724 chr19 50162870 50162870 - G rs750476278 IRF3 Frameshift insertion V446Cfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 196725 chr10 23250899 23250899 G A ARMC3 Synonymous SNV Q208Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.212 196726 chrX 96139929 96139929 G A RPA4 Nonsynonymous SNV R207H 0.002 0 0 1 2 0 0.003 0 1 0 0 0 14.44 196727 chr10 76867877 76867877 G C rs188944686 DUSP13 Synonymous SNV G80G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.84 196728 chr4 104510892 104510892 C T rs17033889 TACR3 Nonsynonymous SNV A449T 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign/Likely benign 16.45 196729 chr4 100571023 100571023 C T rs771419156 C4orf54 Nonsynonymous SNV V1595I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.028 196730 chr10 102057238 102057238 C T rs148412598 PKD2L1 Nonsynonymous SNV R239Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.339 196731 chr19 51645907 51645907 G A rs752427159 SIGLEC7 Nonsynonymous SNV R94Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 196732 chr19 52222521 52222521 C T HAS1 Nonsynonymous SNV G213S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 196733 chr19 3806017 3806017 C T rs768433518 ZFR2 Nonsynonymous SNV G917E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.498 196734 chr4 1210610 1210610 C T rs781368395 CTBP1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 5.043 196735 chr10 46970604 46970604 A C rs554926051 LOC102724488 Nonsynonymous SNV V70G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.024 196736 chr10 46970605 46970605 C T rs573350091 LOC102724488 Nonsynonymous SNV V70M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.554 196737 chr19 4157261 4157261 A G CREB3L3 Synonymous SNV Q141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 196738 chr4 121706162 121706162 T C rs75893420 PRDM5 Nonsynonymous SNV I394V 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 20.4 196739 chr10 99148296 99148296 G A rs146832996 RRP12 Nonsynonymous SNV A180V 0.001 0 0 0 1 0 0 0 0 0 0 0 30 196740 chr4 1219249 1219249 G A rs756957912 CTBP1 Nonsynonymous SNV A149V 0 0 0 3 0 0 0.008 0 0 0 0 0 23.1 196741 chr10 116930870 116930870 A G rs141967868 ATRNL1 Nonsynonymous SNV I390V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 4.903 196742 chr4 125593577 125593577 T C rs61739725 ANKRD50 Synonymous SNV T106T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.161 196743 chr19 54577211 54577211 C T TARM1 Nonsynonymous SNV A207T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.53 196744 chr19 4550161 4550161 C T rs144907430 SEMA6B Synonymous SNV A415A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.17 196745 chr19 5119703 5119703 C G rs140216413 KDM4B Synonymous SNV P385P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 196746 chr10 120094925 120094925 A C rs200241971 FAM204A Nonsynonymous SNV N112K 0.003 0 0 0 3 0 0 0 0 0 0 0 9.486 196747 chr4 129767598 129767598 C T JADE1 Synonymous SNV Y69Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.56 196748 chr19 5778644 5778644 C G rs376284869 CATSPERD Nonsynonymous SNV P785R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 196749 chr4 154279690 154279690 G T rs751587544 MND1 Nonsynonymous SNV R64S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 196750 chr19 6531171 6531171 G A rs2234174 TNFSF9 Nonsynonymous SNV A42T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 8.773 196751 chr10 121675329 121675329 A G SEC23IP Nonsynonymous SNV K491R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.337 196752 chr19 6750386 6750386 C T rs75725110 TRIP10 Synonymous SNV P437P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.1 196753 chr4 15964307 15964307 G A rs768668429 FGFBP2 Nonsynonymous SNV S149F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 196754 chr19 7622087 7622087 C T PNPLA6 Nonsynonymous SNV T1105M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.1 196755 chr4 154279749 154279749 A T rs144429523 MND1 Nonsynonymous SNV H84L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.55 196756 chr10 129866448 129866448 C T rs747243013 PTPRE Nonsynonymous SNV P82L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 196757 chrX 100912281 100912281 C A rs372074769 ARMCX2 Synonymous SNV V98V 0 0.005 0 0 0 2 0 0 0 0 0 0 13.14 196758 chr4 1843365 1843365 C G rs142447147 LETM1 Nonsynonymous SNV Q101H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.556 196759 chr4 1656776 1656776 G C rs142856177 FAM53A Nonsynonymous SNV R271G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 18.31 196760 chrX 102884850 102884850 C T rs184713983 TCEAL1 Synonymous SNV D2D 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 12.15 196761 chr4 1656822 1656822 C G rs112026417 FAM53A Synonymous SNV L255L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 9.169 196762 chr9 135772977 135772977 G A rs118203720 TSC1 Synonymous SNV A831A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.24 196763 chr11 1080493 1080493 C T rs780203415 MUC2 Nonsynonymous SNV R379C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 196764 chr9 136508597 136508597 C T rs141816448 DBH Synonymous SNV C269C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.43 196765 chr19 9056909 9056909 G A rs367559148 MUC16 Synonymous SNV S10179S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.594 196766 chr10 15255204 15255204 C T rs200146894 FAM171A1 Nonsynonymous SNV E795K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 196767 chr10 16911792 16911792 G A rs754292924 CUBN Synonymous SNV Y3099Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.332 196768 chr11 113105825 113105825 G A rs201910908 NCAM1 Synonymous SNV A578A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.357 196769 chr10 19413462 19413462 C A rs571544821 MALRD1 Nonsynonymous SNV A269D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 196770 chr10 85997424 85997424 G C rs199826194 LRIT1 Nonsynonymous SNV D47E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 196771 chr11 113934651 113934651 G A rs1014297432 ZBTB16 Nonsynonymous SNV G210E 0.003 0 0 0 3 0 0 0 0 0 0 0 18.98 196772 chr19 9084514 9084514 G A rs182082757 MUC16 Nonsynonymous SNV T2434I 0.003 0 0 0 3 0 0 0 0 0 0 0 1.641 196773 chr11 117160321 117160321 C T rs202219817 BACE1 Synonymous SNV Q389Q 0.003 0 0 0 3 0 0 0 0 0 0 0 11.77 196774 chr11 117387411 117387411 G A rs774415731 DSCAML1 Synonymous SNV A518A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.87 196775 chrX 153132324 153132324 C T rs146782397 L1CAM Synonymous SNV P732P 0.006 0.01 0.007 0 7 4 0 2 2 1 0 0 Benign/Likely benign 10.97 196776 chr4 20543241 20543241 C T rs145381139 SLIT2 Synonymous SNV D710D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.943 196777 chr11 119169084 119169084 C T rs142564074 CBL Synonymous SNV A756A 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 19.28 196778 chr20 3678558 3678558 T C rs773015864 SIGLEC1 Nonsynonymous SNV N670S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 196779 chrX 32663203 32663203 G T DMD Nonsynonymous SNV R335S 0.001 0.01 0 0 1 4 0 0 0 1 0 0 7.488 196780 chr10 43976954 43976954 A G ZNF487 Nonsynonymous SNV N74D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 196781 chr20 6100132 6100132 C T rs151287434 FERMT1 Nonsynonymous SNV E24K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 196782 chr10 45430234 45430234 C T rs138958742 TMEM72 Synonymous SNV T42T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 196783 chr12 58131916 58131916 C A AGAP2 Synonymous SNV A38A 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 11.56 196784 chr19 13423537 13423537 G A rs182505786 CACNA1A Synonymous SNV Y539Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.795 196785 chr19 13870053 13870053 C T rs746805252 CCDC130 Synonymous SNV F35F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 196786 chr19 14031706 14031706 C T rs773609533 CC2D1A Nonsynonymous SNV R538C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 196787 chr19 14584885 14584885 G T rs201044848 PTGER1 Nonsynonymous SNV T83N 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 196788 chrX 69420297 69420297 G A rs201886685 DGAT2L6 Nonsynonymous SNV V154M 0.001 0.008 0 0 1 3 0 0 0 0 0 0 18.86 196789 chr11 125495803 125495803 C T CHEK1 Nonsynonymous SNV L50F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 196790 chrX 69652268 69652268 G A rs201419384 GDPD2 Synonymous SNV Q394Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.57 196791 chrX 69774548 69774548 A G rs200139216 TEX11 Nonsynonymous SNV V748A 0.007 0.013 0 0 8 5 0 0 2 1 0 0 22.6 196792 chrX 71426766 71426766 T A ERCC6L Synonymous SNV R617R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 2.683 196793 chrX 75004007 75004007 T C rs763106807 MAGEE2 Nonsynonymous SNV T294A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.003 196794 chr9 4567684 4567684 G A SLC1A1 Nonsynonymous SNV E167K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.91 196795 chr4 77691937 77691937 G A rs181584053 SHROOM3 Nonsynonymous SNV M1836I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 196796 chr1 896869 896869 G A rs756419152 KLHL17 Nonsynonymous SNV E102K 0 0.005 0 0 0 2 0 0 0 0 0 0 24 196797 chr9 74365279 74365279 G C CEMIP2 Nonsynonymous SNV T4S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.954 196798 chr10 6188385 6188385 G C PFKFB3 Nonsynonymous SNV G15A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 196799 chr10 61941098 61941098 C T rs144051466 ANK3 Nonsynonymous SNV A708T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 196800 chr11 102647396 102647396 A G rs147985027 MMP10 Nonsynonymous SNV L245P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 196801 chr1 1221432 1221432 A G rs893527270 SCNN1D Nonsynonymous SNV T229A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.48 196802 chr1 1271813 1271813 G A rs905441386 DVL1 Synonymous SNV G599G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.424 196803 chr9 79322688 79322688 T C rs542380098 PRUNE2 Nonsynonymous SNV H1501R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 196804 chr11 13721978 13721978 A G rs370085498 FAR1 Nonsynonymous SNV I102V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.573 196805 chr10 69991427 69991427 G A rs1032692523 ATOH7 Nonsynonymous SNV S3F 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 24.5 196806 chr20 34599147 34599147 A C CNBD2 Nonsynonymous SNV K413Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.42 196807 chr11 10615680 10615680 T C rs368923760 MRVI1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.561 196808 chr19 17599835 17599835 G T SLC27A1 Nonsynonymous SNV G302V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 196809 chr11 10874973 10874973 G A rs777807827 ZBED5 Nonsynonymous SNV S507L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 196810 chr10 72434380 72434380 C T rs374197954 ADAMTS14 Nonsynonymous SNV R51C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 196811 chr10 73053247 73053247 C G rs373857852 UNC5B Nonsynonymous SNV L609V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 196812 chr20 44592204 44592204 G A rs141481390 ZNF335 Nonsynonymous SNV R481C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 196813 chr19 18376412 18376412 G T IQCN Nonsynonymous SNV H646Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 196814 chr11 20066661 20066661 A G NAV2 Nonsynonymous SNV N202S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 196815 chr10 74992859 74992859 C G rs767987832 FAM149B1 Nonsynonymous SNV S430R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.47 196816 chr10 75255594 75255594 C A rs201497653 PPP3CB Synonymous SNV P18P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 12.27 196817 chr19 18700346 18700346 C T REX1BD Synonymous SNV S102S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 196818 chr1 7723936 7723936 C T CAMTA1 Synonymous SNV A413A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.833 196819 chr19 18994994 18994994 G A rs45601540 CERS1 Synonymous SNV Y66Y 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 6.246 196820 chr1 7887619 7887619 C T rs137949562 PER3 Nonsynonymous SNV P877L 0 0.005 0 0 0 2 0 0 0 0 0 0 22.7 196821 chr10 77159751 77159751 C G rs200297480 ZNF503 Nonsynonymous SNV A233P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 196822 chrX 110491212 110491212 G A rs144507804 CAPN6 Nonsynonymous SNV T498I 0.005 0 0 0 6 0 0 0 2 0 0 0 23.1 196823 chr4 79353746 79353746 C A rs533608491 FRAS1 Nonsynonymous SNV H1735Q 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Uncertain significance 20.8 196824 chr1 9164543 9164543 C T rs554940128 GPR157 Nonsynonymous SNV A315T 0 0.005 0 0 0 2 0 0 0 0 0 0 8.904 196825 chr1 9932035 9932035 C T CTNNBIP1 Nonsynonymous SNV G30R 0 0.005 0 0 0 2 0 0 0 0 0 0 34 196826 chr20 54824071 54824071 C T rs145062060 MC3R Synonymous SNV L58L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.836 196827 chr1 11007895 11007895 G T rs139527402 C1orf127 Nonsynonymous SNV P627H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 22.4 196828 chr1 11008228 11008228 G A rs373337941 C1orf127 Nonsynonymous SNV P516L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 196829 chr20 56179820 56179820 G A rs751287186 ZBP1 Nonsynonymous SNV R292C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.11 196830 chr20 57244484 57244484 G T STX16 Synonymous SNV R173R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.92 196831 chr5 129520333 129520333 C T CHSY3 Synonymous SNV L500L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.449 196832 chr5 131039800 131039800 G A rs752007000 FNIP1 Synonymous SNV L330L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.393 196833 chr1 12198470 12198470 C T rs142130984 TNFRSF8 Nonsynonymous SNV T395M 0 0.005 0 0 0 2 0 0 0 0 0 0 19.55 196834 chr5 1323949 1323949 G A CLPTM1L Synonymous SNV L411L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.52 196835 chr19 35512725 35512725 C T GRAMD1A Synonymous SNV H563H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 196836 chr5 137513350 137513350 T G BRD8 Nonsynonymous SNV K9T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 196837 chr4 88996776 88996776 C T rs370039125 PKD2 Nonsynonymous SNV P946L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.8 196838 chr4 89358866 89358866 C A HERC6 Nonsynonymous SNV H794N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 196839 chr11 44081393 44081393 C T rs202158584 ACCSL Nonsynonymous SNV R544C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 196840 chr4 95585197 95585197 T C rs146226694 PDLIM5 Synonymous SNV H265H 0.001 0 0 2 1 0 0.005 0 0 0 0 1 4.827 196841 chrX 152939532 152939532 C T rs782613691 PNCK Synonymous SNV P33P 0.003 0 0 0 3 0 0 0 1 0 0 0 10.49 196842 chrX 152990831 152990831 G T ABCD1 Nonsynonymous SNV R37L 0.003 0 0 0 3 0 0 0 1 0 0 0 Uncertain significance 13.26 196843 chr19 37038714 37038714 T A rs761804402 ZNF529 Nonsynonymous SNV H231L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 196844 chrX 153218095 153218095 T C HCFC1 Synonymous SNV V1604V 0.003 0 0 0 3 0 0 0 1 0 0 0 2.87 196845 chrX 153660705 153660705 G A rs782357235 ATP6AP1 Nonsynonymous SNV G153R 0.003 0 0 2 3 0 0.005 0 1 0 0 1 16.92 196846 chr11 126139151 126139151 G A rs148692707 FOXRED1 Nonsynonymous SNV R17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 196847 chr19 37904495 37904495 T C rs139894308 ZNF569 Synonymous SNV K196K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.267 196848 chr5 147803610 147803610 C T rs778114879 FBXO38 Synonymous SNV A556A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 196849 chr8 77776095 77776095 A G ZFHX4 Nonsynonymous SNV Q3382R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.504 196850 chr11 17150917 17150917 C T rs149664988 PIK3C2A Nonsynonymous SNV D397N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 27.5 196851 chr5 149753865 149753865 G A rs55918703 TCOF1 Synonymous SNV G256G 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 5.721 196852 chr5 150175145 150175145 A G rs780742167 SMIM3 Nonsynonymous SNV Y48C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 196853 chr11 17794050 17794050 A G rs143588903 KCNC1 Nonsynonymous SNV N470S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.96 196854 chr19 41243671 41243671 C T rs145921796 ITPKC Synonymous SNV H615H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 196855 chr19 41255523 41255523 G A rs150370621 C19orf54 Synonymous SNV P62P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 196856 chr19 42813800 42813800 C T rs751389491 PRR19 Nonsynonymous SNV R22C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 196857 chr19 44116662 44116662 G A rs148194580 SRRM5 Nonsynonymous SNV R130H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.927 196858 chr21 38568116 38568116 T C TTC3 Synonymous SNV A1064A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.197 196859 chr19 44223326 44223326 G A rs544043530 IRGC Nonsynonymous SNV G206S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 196860 chr5 168149298 168149298 C T rs145981611 SLIT3 Nonsynonymous SNV V816I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.223 196861 chr10 100189239 100189239 C T rs759671182 HPS1 Nonsynonymous SNV V271M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.872 196862 chr19 44660684 44660684 G A ZNF234 Nonsynonymous SNV G172E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 196863 chr11 110030108 110030108 C T rs745507595 ZC3H12C Synonymous SNV D347D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.191 196864 chr10 102748921 102748921 C G rs373662534 TWNK Synonymous SNV A318A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.218 196865 chr1 35370922 35370922 C T rs375760508 DLGAP3 Synonymous SNV Q21Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.114 196866 chr5 177546650 177546650 G A N4BP3 Synonymous SNV Q22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 196867 chr1 41012778 41012778 C T rs375358773 ZNF684 Synonymous SNV H261H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 196868 chr19 48177013 48177013 C T rs200233936 BICRA Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 196869 chr5 1422074 1422074 G T rs376877303 SLC6A3 Synonymous SNV R237R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.86 196870 chr22 18022111 18022111 A G rs199565531 CECR2 Nonsynonymous SNV Y597C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.5 196871 chr19 48806312 48806312 C T rs775308970 CCDC114 Synonymous SNV E306E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.63 196872 chr19 48806319 48806319 A T rs773411120 CCDC114 Nonsynonymous SNV I304N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27 196873 chr1 46512228 46512228 A G LOC110117498-PIK3R3, PIK3R3 Synonymous SNV A181A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.539 196874 chr10 118137967 118137967 A T rs200106365 CCDC172 Nonsynonymous SNV D229V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.6 196875 chr5 147805180 147805180 G A rs201999494 FBXO38 Nonsynonymous SNV V612I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.8 196876 chr22 19808813 19808813 C T rs56156663 GNB1L Synonymous SNV P22P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.52 196877 chr5 37226559 37226559 G A rs765005739 CPLANE1 Nonsynonymous SNV S713L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.53 196878 chr1 54417755 54417755 A G rs375547818 LRRC42 Nonsynonymous SNV N28S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.054 196879 chr10 124909466 124909466 A G HMX2 Nonsynonymous SNV M217V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 196880 chr5 54429307 54429307 A G rs149160251 CDC20B Synonymous SNV G210G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 196881 chr1 55183216 55183216 A T rs766313795 TTC4 Nonsynonymous SNV D94V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.7 196882 chr22 24095239 24095239 G A rs1013341079 VPREB3 Stop gain R66X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 196883 chr5 54948538 54948538 A G rs148952293 SLC38A9 Synonymous SNV S194S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.277 196884 chr19 50917048 50917048 C T rs556196668 POLD1 Nonsynonymous SNV S793L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 196885 chr5 56233489 56233489 C T rs768050096 MIER3 Nonsynonymous SNV E123K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 196886 chr5 64569274 64569274 C T rs865937965 ADAMTS6 Nonsynonymous SNV E505K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 196887 chr22 28378809 28378829 GTCCAGCTGGGAAGTCTGTGA - TTC28 S2276_D2282del 0 0 0 1 0 0 0.003 0 0 0 0 0 196888 chr11 126174062 126174062 G T rs147935593 DCPS Nonsynonymous SNV E29D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.478 196889 chr11 57135890 57135890 G A rs200877601 P2RX3 Nonsynonymous SNV A328T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 196890 chr11 128846477 128846477 T C rs61753088 ARHGAP32 Synonymous SNV T362T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 1.092 196891 chr14 38293034 38293034 C T rs142707594 TTC6 Nonsynonymous SNV R250W 0.003 0 0 0 4 0 0 0 0 0 0 0 34 196892 chr5 7867506 7867506 A C FASTKD3 Nonsynonymous SNV S231A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.657 196893 chr5 7868059 7868059 A G rs149819178 FASTKD3 Synonymous SNV C46C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.244 196894 chr22 35947743 35947743 G A rs146344767 RASD2 Synonymous SNV E155E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.192 196895 chr22 38120764 38120764 C T rs199794705 TRIOBP Nonsynonymous SNV S734F 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 Uncertain significance 24.4 196896 chr5 96513537 96513537 C T rs199534704 RIOK2 Nonsynonymous SNV R74Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 196897 chr6 101090521 101090521 A G ASCC3 Synonymous SNV A1279A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.818 196898 chr22 38690457 38690457 G A rs376168212 CSNK1E, TPTEP2-CSNK1E Synonymous SNV S323S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.281 196899 chr1 92181951 92181951 A C rs751439439 TGFBR3 Nonsynonymous SNV F569V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.88 196900 chr1 92646068 92646068 C A rs199735511 KIAA1107 Nonsynonymous SNV P430H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.8 196901 chr11 2193005 2193005 G A rs147131010 TH Synonymous SNV P4P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.155 196902 chr6 116973255 116973255 G A rs201711320 ZUP1 Synonymous SNV G158G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.07 196903 chr11 62298319 62298319 G A rs148950066 AHNAK Synonymous SNV F1190F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.164 196904 chr6 117710593 117710593 C T rs145765584 ROS1 Nonsynonymous SNV R560H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.13 196905 chr6 117710919 117710919 C T rs150813251 ROS1 Synonymous SNV E451E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.9 196906 chr11 32861686 32861686 T C rs763274560 PRRG4 Nonsynonymous SNV L117P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 196907 chr11 32953771 32953771 C T rs781671940 QSER1 Nonsynonymous SNV R323W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 196908 chr19 56206651 56206651 G A rs780788157 EPN1 Nonsynonymous SNV G528R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 196909 chr11 62549400 62549400 T C rs145421020 TAF6L Nonsynonymous SNV I189T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 196910 chr11 32975622 32975622 T C rs201036288 QSER1 Nonsynonymous SNV I1466T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 28.9 196911 chr22 50485699 50485699 C T rs746978079 TTLL8 Synonymous SNV P133P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.62 196912 chr5 59064174 59064174 G C rs148392104 PDE4D Synonymous SNV L54L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.97 196913 chr6 139583815 139583815 G A rs145378382 TXLNB Synonymous SNV I261I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.02 196914 chr6 144179057 144179058 AA - rs776772507 LTV1 K58Efs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 196915 chr6 150209805 150209805 - AA rs10671072 RAET1E 0 0 0.007 0 0 0 0 2 0 0 0 0 196916 chr19 58982241 58982241 G A rs147519125 ZNF324 Nonsynonymous SNV A128T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.302 196917 chr11 66190407 66190407 C T rs572000189 NPAS4 Nonsynonymous SNV P58L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.67 196918 chr5 74325641 74325641 C T rs200357929 GCNT4 Synonymous SNV S74S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.07 196919 chrX 48419354 48419354 C T rs143270326 TBC1D25 Synonymous SNV A702A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 196920 chrX 49143079 49143079 G A rs371627862 PPP1R3F Nonsynonymous SNV E297K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 196921 chr5 79034110 79034110 T G CMYA5 Synonymous SNV T3174T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 196922 chrX 54159139 54159139 C T rs782485647 FAM120C Nonsynonymous SNV R683Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 196923 chr11 67434078 67434078 T G rs74508424 ALDH3B2 Nonsynonymous SNV T40P 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.095 196924 chr11 67434160 67434160 C T rs76408306 ALDH3B2 Nonsynonymous SNV M12I 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 6.092 196925 chr11 67434161 67434161 A G rs76550666 ALDH3B2 Nonsynonymous SNV M12T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.001 196926 chr11 67888487 67888487 G C CHKA Nonsynonymous SNV P53R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.761 196927 chrX 67937920 67937920 A G rs147571370 STARD8 Synonymous SNV L308L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.022 196928 chr1 155231510 155231510 G A rs139510862 SCAMP3 Stop gain Q28X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 196929 chr1 155264320 155264320 G T rs141571402 PKLR Nonsynonymous SNV H306Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.893 196930 chr1 155291772 155291772 C T rs201539701 RUSC1 Nonsynonymous SNV P70S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 196931 chr11 68846424 68846424 G A rs756107301 TPCN2 Nonsynonymous SNV G492D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 29 196932 chr1 155629930 155629930 C T rs140542694 YY1AP1 Nonsynonymous SNV A580T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 196933 chr20 3641460 3641460 - GGGGCGC rs773497363 GFRA4 Frameshift insertion R175Afs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 196934 chr6 167754233 167754233 C T rs141215599 TTLL2 Nonsynonymous SNV T282M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 196935 chr10 93601163 93601163 A C rs150996069 TNKS2 Synonymous SNV A599A 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 6.052 196936 chr20 3650257 3650257 G A rs147783607 ADAM33 Synonymous SNV H730H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.862 196937 chr10 94449892 94449892 C G HHEX Nonsynonymous SNV T50R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 196938 chr1 156206159 156206159 G T PMF1, PMF1-BGLAP Nonsynonymous SNV R81L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.889 196939 chr10 97396916 97396916 G A rs150472102 ALDH18A1 Synonymous SNV A53A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.66 196940 chrX 101910277 101910277 C A GPRASP1 Nonsynonymous SNV T479N 0 0 0 1 0 0 0.003 0 0 0 0 0 4.445 196941 chr11 64111801 64111801 C G rs377365813 CCDC88B Synonymous SNV S596S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.841 196942 chr6 25726546 25726546 C T rs187505332 HIST1H2AA Synonymous SNV A70A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 196943 chr20 23065271 23065271 G A rs143062108 CD93 Nonsynonymous SNV S520L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 10.46 196944 chr1 160141161 160141161 A G rs147697970 ATP1A4 Nonsynonymous SNV N538D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.003 196945 chr20 31505245 31505245 C T rs539746872 EFCAB8 Synonymous SNV T665T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 196946 chr6 35210899 35210899 C T rs149254940 SCUBE3 Nonsynonymous SNV R598C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 196947 chr11 66062454 66062454 A G rs762116267 TMEM151A Nonsynonymous SNV N246S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 196948 chr20 32268169 32268169 A G E2F1 Synonymous SNV S105S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.107 196949 chr20 33330880 33330880 G A rs61752052 NCOA6 Synonymous SNV P1060P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 0.315 196950 chr20 35422616 35422616 G A rs200279118 SOGA1 Nonsynonymous SNV S1290L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 196951 chr20 39317264 39317264 G T rs138989733 MAFB Nonsynonymous SNV T76N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 196952 chr1 897125 897125 G A KLHL17 Nonsynonymous SNV V162M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 196953 chr6 41010803 41010803 A T TSPO2 Nonsynonymous SNV M27L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 196954 chr6 41754820 41754820 C G PRICKLE4 Nonsynonymous SNV Q370E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.621 196955 chr1 1019431 1019431 G C rs139486403 C1orf159 Nonsynonymous SNV D268E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.882 196956 chr11 92899159 92899159 A C rs146740031 SLC36A4 Synonymous SNV L129L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.547 196957 chr11 69924748 69924748 C A rs746101530 ANO1 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 196958 chr1 1267556 1267556 C A rs766694130 TAS1R3 Nonsynonymous SNV D215E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.83 196959 chr20 44581241 44581241 A G rs773943067 ZNF335 Nonsynonymous SNV I937T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 196960 chr6 43250762 43250776 GAAGAGGAGGAGGAG - rs775744173 TTBK1 E767_E771del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 196961 chr20 45170227 45170227 G A rs750777938 OCSTAMP Synonymous SNV L463L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.01 196962 chr20 45217828 45217828 C T rs1028801487 SLC13A3 Synonymous SNV R279R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 196963 chr20 47274731 47274731 G T rs147901913 PREX1 Synonymous SNV I639I 0.003 0 0 2 4 0 0.005 0 0 0 0 0 13.72 196964 chr6 46660743 46660743 G A rs13217986 TDRD6 Synonymous SNV S1626S 0.003 0 0.014 0 4 0 0 4 0 0 0 0 13.29 196965 chr6 46661668 46661668 A C rs775921584 TDRD6 Nonsynonymous SNV M1935L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 196966 chr20 49197955 49197955 C T rs74607837 PTPN1 Synonymous SNV C341C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.99 196967 chr20 50090611 50090611 C T NFATC2 Synonymous SNV K518K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.93 196968 chr20 50769485 50769485 C A rs139307001 ZFP64 Nonsynonymous SNV V362L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.724 196969 chr20 54972873 54972873 A G rs540022505 CSTF1 Synonymous SNV A207A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.434 196970 chr6 52849377 52849377 A G rs45551133 GSTA4 Nonsynonymous SNV L100P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 196971 chr12 107103182 107103182 A G RFX4 Nonsynonymous SNV E209G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 196972 chr20 58520135 58520135 A G rs77412163 FAM217B Synonymous SNV T222T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.045 196973 chr12 109609713 109609713 C T rs147020981 ACACB Synonymous SNV P343P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.39 196974 chr1 9642408 9642408 T C SLC25A33 Nonsynonymous SNV V272A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.03 196975 chr6 65300994 65300994 T A rs762302769 EYS Nonsynonymous SNV N1589I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 196976 chr11 7981222 7981222 G A NLRP10 Nonsynonymous SNV T646I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.861 196977 chr12 112171821 112171830 GCCTACAGCT - ACAD10 Y498Wfs*12 0.002 0 0 0 2 0 0 0 0 0 0 0 196978 chr12 112650402 112650402 C T rs61742611 HECTD4 Synonymous SNV P2516P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.32 196979 chr20 61512080 61512080 A C rs57164938 DIDO1 Nonsynonymous SNV V1743G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 196980 chr20 61512819 61512819 C G DIDO1 Nonsynonymous SNV E1497Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 196981 chr1 12009958 12009958 A G PLOD1 Synonymous SNV A99A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.997 196982 chr12 113617116 113617116 A G rs145088073 DDX54 Synonymous SNV D132D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.884 196983 chr6 84270613 84270613 C T rs187423527 SNAP91 Synonymous SNV S525S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.07 196984 chr6 87968273 87968273 C T rs41273277 ZNF292 Synonymous SNV N1642N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.561 196985 chr6 99823941 99823941 C T rs138873880 COQ3 Nonsynonymous SNV V202M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 18.99 196986 chr7 100200674 100200674 C T rs2686815 PCOLCE-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 14.32 196987 chr7 100212581 100212581 C T rs147303791 MOSPD3 Synonymous SNV D191D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.865 196988 chr11 62300406 62300406 T C AHNAK Nonsynonymous SNV I495V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 196989 chr1 19282403 19282403 C G rs370494370 IFFO2 Nonsynonymous SNV G142R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 196990 chr1 19282672 19282672 G C IFFO2 Nonsynonymous SNV S52C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 196991 chr11 62406496 62406496 G A GANAB Synonymous SNV Y16Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.509 196992 chr21 33976595 33976595 T C C21orf59-TCP10L, CFAP298 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 196993 chr12 129569074 129569074 C T TMEM132D Synonymous SNV K539K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.72 196994 chr11 64666130 64666130 G A rs569193120 ATG2A Nonsynonymous SNV P1542L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 196995 chr21 40717137 40717137 C T rs139139360 HMGN1 Nonsynonymous SNV E64K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 196996 chr11 64813340 64813340 G A rs74460041 NAALADL1 Nonsynonymous SNV R664W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 196997 chr11 64825401 64825401 C T rs199772472 NAALADL1 Synonymous SNV G142G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 196998 chr11 64863886 64863886 C T VPS51 Nonsynonymous SNV P55L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 196999 chr1 24417383 24417383 G A rs201416125 MYOM3 Nonsynonymous SNV R446W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 197000 chr12 133225959 133225959 G A rs949243552 POLE Nonsynonymous SNV T1313M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.68 197001 chr1 24932174 24932174 A G NCMAP Nonsynonymous SNV N82S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.081 197002 chr21 43412480 43412480 G A rs150186172 ZBTB21 Synonymous SNV Y575Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.999 197003 chr12 110346714 110346714 G A TCHP Nonsynonymous SNV R284K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 197004 chr12 133780849 133780850 AA - rs766279990 ZNF268 K862Tfs*3 0.003 0 0 0 3 0 0 0 0 0 0 0 197005 chr1 26393843 26393843 G A rs140523053 TRIM63 Nonsynonymous SNV A48V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 33 197006 chr1 26496570 26496570 C T ZNF593 Synonymous SNV H32H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.44 197007 chr12 18891235 18891235 G A rs139447887 CAPZA3 Synonymous SNV K11K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.769 197008 chr11 66239896 66239896 G A rs201490016 PELI3 Synonymous SNV S30S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.06 197009 chr7 107323800 107323800 G C SLC26A4 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 197010 chr21 45846926 45846926 C T rs776030162 TRPM2 Synonymous SNV N1302N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.759 197011 chr1 32206981 32206981 T A ADGRB2 Nonsynonymous SNV Y596F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 197012 chr11 67034239 67034239 G C GRK2 Synonymous SNV T23T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 197013 chr11 18955726 18955726 A G rs188512916 MRGPRX1 Synonymous SNV I202I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 197014 chr11 18955734 18955734 T C rs200061528 MRGPRX1 Nonsynonymous SNV I200V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 197015 chr11 18955753 18955753 C A rs147288525 MRGPRX1 Synonymous SNV G193G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.826 197016 chr11 18955754 18955754 C A rs140922847 MRGPRX1 Nonsynonymous SNV G193V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 197017 chr1 33797059 33797059 G A rs760743718 PHC2 Synonymous SNV S96S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.66 197018 chr6 36930968 36930968 G A rs199875004 PI16 Nonsynonymous SNV V284I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.927 197019 chr1 35915974 35915974 C T KIAA0319L Synonymous SNV G733G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.72 197020 chr10 22022770 22022770 C T rs547204318 MLLT10 Nonsynonymous SNV P857L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 197021 chr7 127631049 127631049 A G SND1 Synonymous SNV E573E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 197022 chr1 40529947 40529947 G T rs201825796 CAP1 Nonsynonymous SNV V115L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 197023 chr7 128434565 128434565 G A CCDC136 Synonymous SNV E60E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 197024 chr1 40928562 40928562 C T rs140502577 ZFP69B Synonymous SNV T302T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.66 197025 chr10 27337817 27337817 T - rs886046946 ANKRD26 D576Vfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 197026 chr22 18021892 18021892 C G CECR2 Nonsynonymous SNV P524R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 197027 chr12 122439483 122439483 C A rs201822352 WDR66 Nonsynonymous SNV P1106T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 197028 chr10 29822057 29822057 G A rs77837604 SVIL Synonymous SNV D413D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.095 197029 chr1 43692689 43692689 A G rs995524509 CFAP57 Synonymous SNV Q967Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.787 197030 chr1 43777782 43777782 T C TIE1 Nonsynonymous SNV L492P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 197031 chr7 138588433 138588433 G A rs368853660 KIAA1549 Synonymous SNV A1190A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 197032 chr1 45251806 45251806 C T rs768770759 BEST4 Synonymous SNV A192A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 197033 chr11 35640709 35640709 C T rs747002305 FJX1 Synonymous SNV T175T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 197034 chr6 44224543 44224543 C T rs775580812 SLC35B2 Nonsynonymous SNV G25R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 197035 chr10 35929318 35929318 G A rs757488164 FZD8 Nonsynonymous SNV A347V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.171 197036 chr16 28855777 28855777 A G TUFM Synonymous SNV P260P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.153 197037 chr7 141618797 141618798 AC - rs200656822 OR9A4 T42Sfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 197038 chr10 46967532 46967532 C T LOC102724488, SYT15 Nonsynonymous SNV S66N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 197039 chr7 141619365 141619365 A G rs73529458 OR9A4 Synonymous SNV S230S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.485 197040 chr7 141631550 141631550 C T rs35942193 CLEC5A Nonsynonymous SNV R118H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 197041 chr22 25308680 25308680 C A SGSM1 Synonymous SNV A902A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 197042 chr1 48697629 48697629 G A rs773544150 SLC5A9 Nonsynonymous SNV V235M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.4 197043 chr1 248224890 248224890 G C rs143106924 OR2L3 Nonsynonymous SNV V303L 0.001 0.01 0 0 1 4 0 0 0 0 0 0 0.118 197044 chr22 29876983 29876983 G A rs527475764 NEFH Synonymous SNV Q244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.921 197045 chr7 149461875 149461875 G A rs554157424 ZNF467 Synonymous SNV A572A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.195 197046 chr7 150553627 150553627 G A rs186258416 AOC1 Synonymous SNV P23P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.884 197047 chr2 3197850 3197850 G A rs148363289 EIPR1 Synonymous SNV C103C 0.003 0.008 0 0 4 3 0 0 0 0 0 0 4.636 197048 chr2 3391617 3391617 T G rs750118896 TRAPPC12 Nonsynonymous SNV S75A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 23.9 197049 chr12 21327522 21327522 G T rs781021072 SLCO1B1 Nonsynonymous SNV V80L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 197050 chr1 62672513 62672513 A G L1TD1 Synonymous SNV E71E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.699 197051 chr22 32647856 32647856 G A rs751438943 SLC5A4 Synonymous SNV G71G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.34 197052 chr7 151092917 151092917 C G rs368147932 WDR86 Nonsynonymous SNV S224T 0 0 0.003 0 0 0 0 1 0 0 0 0 11 197053 chr7 151109101 151109101 G A rs767208632 WDR86-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.579 197054 chr1 67581097 67581097 T G C1orf141 Nonsynonymous SNV K95T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 197055 chr7 155757587 155757587 G A rs557953292 LOC389602 Synonymous SNV A296A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.736 197056 chr1 74507033 74507033 A G LRRIQ3 Synonymous SNV L528L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.095 197057 chr12 31540647 31540647 C A rs747314854 DENND5B Nonsynonymous SNV A1239S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 197058 chr12 100676876 100676876 A G rs200174631 SCYL2 Nonsynonymous SNV N43S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.57 197059 chr12 101731968 101731968 A G rs150082822 UTP20 Nonsynonymous SNV N1261D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 197060 chr7 16255701 16255701 G A CRPPA Nonsynonymous SNV S364F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 197061 chr12 103249091 103249091 C T rs199475602 PAH Nonsynonymous SNV V177M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Pathogenic 29.3 197062 chr7 21775289 21775289 G C rs369438218 DNAH11 Nonsynonymous SNV R2491P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 197063 chr12 56713797 56713797 G A rs147887898 PAN2 Nonsynonymous SNV P937S 0.003 0 0 0 3 0 0 0 0 0 0 0 28.3 197064 chr12 41900281 41900281 G A rs144075185 PDZRN4 Synonymous SNV K31K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.28 197065 chr10 73570264 73570264 G A rs376497158 CDH23 Synonymous SNV A765A 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.29 197066 chr22 41911805 41911805 G C rs141878785 ACO2 Nonsynonymous SNV G240A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.5 197067 chr1 91403431 91403431 C T rs140271599 ZNF644 Nonsynonymous SNV R1100H 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 32 197068 chr12 57610801 57610801 C A rs369965960 NXPH4 Nonsynonymous SNV L17I 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 197069 chr22 43523768 43523768 G A rs759730906 BIK Nonsynonymous SNV R76H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 197070 chr7 28844125 28844125 G A rs145585405 CREB5 Nonsynonymous SNV G199S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 197071 chr12 63225987 63225989 CTT - rs758729406 PPM1H K106del 0.003 0 0 0 3 0 0 0 0 0 0 0 197072 chr1 100176501 100176501 T C rs772476374 FRRS1 Synonymous SNV A495A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.414 197073 chr7 34094797 34094797 G A BMPER Nonsynonymous SNV R270K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.714 197074 chr10 87898693 87898693 G A rs141646807 GRID1 Synonymous SNV H203H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 197075 chr1 101456105 101456105 T G DPH5 Nonsynonymous SNV Q239H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 197076 chr12 66583168 66583172 CTGTT - IRAK3 V31Gfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 197077 chr10 90122314 90122314 T C rs117446494 RNLS Nonsynonymous SNV N232S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.84 197078 chr2 39570587 39570587 A G rs146901043 MAP4K3 Synonymous SNV D84D 0 0.005 0 0 0 2 0 0 0 0 0 0 8.862 197079 chr10 93753596 93753596 A C rs138546512 BTAF1 Nonsynonymous SNV N1064T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 197080 chr10 94250263 94250263 T A IDE Nonsynonymous SNV D468V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 197081 chr7 45122855 45122855 G C NACAD Nonsynonymous SNV P975R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.003 197082 chr2 44204370 44204370 T C rs187584458 LRPPRC Nonsynonymous SNV Y172C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.6 197083 chr1 110171811 110171811 C G rs370528133 AMPD2 Nonsynonymous SNV T530S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 197084 chr12 113729420 113729420 G A rs144473280 TPCN1 Nonsynonymous SNV V588I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 197085 chr7 47873946 47873946 C T rs1055468975 PKD1L1 Synonymous SNV E2055E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.763 197086 chr22 50899002 50899002 C T rs370712712 SBF1 Nonsynonymous SNV R1037Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 197087 chr22 50927496 50927496 G - MIOX V146Sfs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 197088 chr22 50927497 50927497 T A MIOX Nonsynonymous SNV V146D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 197089 chr7 4899842 4899842 T A rs776425235 PAPOLB Nonsynonymous SNV M534L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.207 197090 chr2 58456962 58456962 C G rs143819820 FANCL Nonsynonymous SNV R68P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 197091 chr12 53586247 53586247 A G rs199702415 ITGB7 Synonymous SNV N674N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.166 197092 chr12 122625587 122625587 C T rs767393514 MLXIP Synonymous SNV L865L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.805 197093 chr7 55605217 55605217 G A rs201798129 VOPP1 Stop gain R2X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.459 197094 chr1 119934879 119934879 C T rs147049405 HAO2 Synonymous SNV G306G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.19 197095 chr12 123463325 123463325 A G rs776248518 OGFOD2 Nonsynonymous SNV D22G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 197096 chr1 144921876 144921876 C T rs781954632 PDE4DIP Nonsynonymous SNV E548K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 197097 chr1 145588467 145588467 G A rs782744928 NUDT17 Synonymous SNV L136L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.432 197098 chrX 24735597 24735597 C T rs775109497 POLA1 Synonymous SNV T299T 0.002 0 0 0 2 0 0 0 1 0 0 0 12.53 197099 chr1 147381065 147381065 C T GJA8 Nonsynonymous SNV A328V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.078 197100 chr12 56031529 56031529 T G OR10P1 Nonsynonymous SNV M285R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 197101 chr12 125453114 125453114 C T rs201964195 DHX37 Synonymous SNV R458R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.3 197102 chr12 56346910 56346910 C T rs373733309 DGKA Nonsynonymous SNV R323C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 197103 chrX 37966024 37966024 C T rs149869826 SYTL5 Nonsynonymous SNV A467V 0.003 0.013 0 4 3 5 0.01 0 1 2 0 2 34 197104 chr7 121699879 121699879 C T rs148476404 PTPRZ1 Synonymous SNV S1381S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.38 197105 chrX 50089805 50089805 G A rs61751434 CCNB3 Nonsynonymous SNV R166K 0.002 0.005 0 2 2 2 0.005 0 1 1 0 1 0.029 197106 chr12 57864681 57864681 C A rs767254882 GLI1 Nonsynonymous SNV P592T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 197107 chrX 70467679 70467679 T C ZMYM3 Nonsynonymous SNV T685A 0.002 0 0 0 2 0 0 0 1 0 0 0 23.2 197108 chrX 73745635 73745635 C G rs763423992 SLC16A2 Synonymous SNV L359L 0.002 0 0 0 2 0 0 0 1 0 0 0 10.24 197109 chr1 154542074 154542074 C T rs773706734 CHRNB2 Synonymous SNV L67L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.45 197110 chrX 104464033 104464033 C T TEX13A Synonymous SNV T281T 0.002 0 0 0 2 0 0 0 1 0 0 0 10.32 197111 chr1 154988147 154988147 G A rs200251994 ZBTB7B Synonymous SNV V337V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.746 197112 chr13 114523961 114523961 G A rs765629353 GAS6 Nonsynonymous SNV A638V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 197113 chrX 118602629 118602629 - CTC SLC25A5-AS1 0.002 0 0 0 2 0 0 0 1 0 0 0 197114 chr2 109392255 109392255 T G rs367864778 RANBP2 Nonsynonymous SNV V2787G 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.21 197115 chr2 109392379 109392379 T A rs141258840 RANBP2 Nonsynonymous SNV D2828E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.07 197116 chr7 99032856 99032856 C T rs182753728 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV V4M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 197117 chr1 156348148 156348148 C T rs190623502 RHBG Nonsynonymous SNV R211C 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 35 197118 chr1 156354347 156354347 - C rs587735548 RHBG Frameshift insertion D425Rfs*18 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 197119 chr8 103291407 103291407 A G rs35794419 UBR5 Nonsynonymous SNV S2011P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 16.53 197120 chr11 118133740 118133740 C T rs145363544 MPZL2 Nonsynonymous SNV R44Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 197121 chr8 117887130 117887130 - C rs763521431 RAD21-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 197122 chr8 124701138 124701138 C T rs144282673 ANXA13 Nonsynonymous SNV D231N 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 20.8 197123 chr1 161821626 161821626 G A ATF6 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 197124 chr1 161989835 161989835 G A rs778879566 OLFML2B Synonymous SNV T104T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.32 197125 chr8 12878685 12878685 C A rs368780276 TRMT9B Nonsynonymous SNV S40Y 0 0 0.007 0 0 0 0 2 0 0 0 0 25 197126 chr12 48367995 48367995 G A rs924835572 COL2A1 Synonymous SNV A1329A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.03 197127 chr10 104572754 104572754 C T rs775950643 WBP1L Nonsynonymous SNV A253V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 197128 chr1 168278035 168278035 C G TBX19 Nonsynonymous SNV S324R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 197129 chr12 98995229 98995229 G C SLC25A3 Nonsynonymous SNV V337L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 197130 chr10 105362625 105362625 G A rs144157162 SH3PXD2A Nonsynonymous SNV P665S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 197131 chr2 166183379 166183379 A G rs147891446 SCN2A Synonymous SNV T678T 0.006 0.016 0.02 1 7 6 0.003 6 0 0 0 0 Benign/Likely benign 3.025 197132 chr12 50501861 50501861 G A rs569083382 GPD1 Nonsynonymous SNV E278K 0.003 0 0 0 4 0 0 0 0 0 0 0 20.9 197133 chr12 51450020 51450020 T C rs750240401 LETMD1 Synonymous SNV L135L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.004 197134 chr1 173552703 173552703 G A rs16828416 SLC9C2 Synonymous SNV I194I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.74 197135 chr8 144990990 144990990 G A rs782592963 PLEC Synonymous SNV T4319T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.198 197136 chr10 119303084 119303084 G C EMX2 Synonymous SNV S102S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.554 197137 chr12 52825799 52825799 G A rs765605642 KRT75 Synonymous SNV A255A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.75 197138 chr8 145095492 145095492 C A rs782568671 SPATC1 Nonsynonymous SNV Q264K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.862 197139 chr1 180257603 180257603 A C rs72712998 ACBD6 Synonymous SNV G248G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 0.526 197140 chr1 180910420 180910420 C T rs528318162 KIAA1614 Nonsynonymous SNV P1053L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.7 197141 chr8 145639794 145639794 G A rs374689411 SLC39A4 Nonsynonymous SNV T309M 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 29.2 197142 chr14 103969253 103969253 A C rs188709144 MARK3 Nonsynonymous SNV K611Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.382 197143 chr1 184801091 184801091 T C NIBAN1 Nonsynonymous SNV M203V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.74 197144 chr7 27135316 27135316 - TGGTGG rs758237482 HOXA1 H72_R73insHH 0 0.003 0 2 0 1 0.005 0 0 0 0 0 197145 chr1 185269142 185269142 G A rs201979152 IVNS1ABP Nonsynonymous SNV P497L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 197146 chr8 17872099 17872099 A G rs201423766 PCM1 Nonsynonymous SNV Q1801R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.5 197147 chr7 29519853 29519853 G A rs202070994 CHN2 Nonsynonymous SNV G43S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.51 197148 chr12 55688895 55688895 A G rs78183586 OR6C6 Nonsynonymous SNV L41S 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.25 197149 chr14 20924116 20924116 - A APEX1 Frameshift insertion E36Rfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 197150 chr10 134999946 134999946 - GGAGCA KNDC1 E368_P369insQE 0.001 0 0 0 1 0 0 0 0 0 0 0 197151 chr1 202097559 202097559 G A rs61734417 GPR37L1 Nonsynonymous SNV G441R 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 1.981 197152 chr12 57133116 57133116 T C PRIM1 Synonymous SNV K338K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.902 197153 chr12 57584741 57584741 C T rs376152619 LRP1 Synonymous SNV D2395D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 197154 chr8 26906437 26906437 A G rs184537764 MIR548H4 0 0 0.024 0 0 0 0 7 0 0 0 0 0.734 197155 chr8 28209238 28209238 G A ZNF395 Nonsynonymous SNV A336V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 197156 chr8 2836285 2836285 G A rs61743129 CSMD1 Synonymous SNV A2805A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.46 197157 chr10 15646343 15646343 T C ITGA8 Nonsynonymous SNV Q646R 0.001 0 0 0 1 0 0 0 0 0 0 0 21 197158 chr10 23482817 23482817 A G rs147793897 PTF1A Synonymous SNV P323P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.68 197159 chr12 65232545 65232545 C T rs187503864 TBC1D30 Synonymous SNV T282T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 7.643 197160 chr1 205890754 205890754 G A rs778018790 SLC26A9 Synonymous SNV L665L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.692 197161 chr12 66603240 66603240 A C IRAK3 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 197162 chr8 42706118 42706118 C T rs377197544 RNF170 Nonsynonymous SNV R140H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.075 197163 chr11 34182600 34182600 G A rs377511923 ABTB2 Synonymous SNV I749I 0 0.005 0 0 0 2 0 0 0 0 0 0 15.69 197164 chr2 218712887 218712889 GCT - rs779148992 TNS1 Q659del 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 197165 chr8 61192334 61192334 C A rs142471870 CA8 Nonsynonymous SNV R69L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 197166 chr8 61777914 61777914 C G rs45521933 CHD7 Nonsynonymous SNV L757V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 22.8 197167 chr12 75441985 75441985 - AA rs759825574 KCNC2 Frameshift insertion L577Sfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 197168 chr14 104129136 104129136 C T rs199517877 KLC1 Synonymous SNV Y223Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 197169 chr7 73083898 73083898 C T rs781987825 VPS37D Synonymous SNV C96C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.18 197170 chr14 105207003 105207003 G A rs755536909 ADSS1 Nonsynonymous SNV R181H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 197171 chr11 46678660 46678660 G A ATG13 Nonsynonymous SNV R93H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 197172 chr11 47776176 47776176 G A rs770610105 FNBP4 Synonymous SNV D120D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.88 197173 chr8 87226757 87226757 - ATCCGC rs750489186 SLC7A13 G432_L433insCG 0 0 0.003 0 0 0 0 1 0 0 0 0 197174 chr10 49658771 49658771 G A rs575641410 ARHGAP22 Synonymous SNV S377S 0.003 0 0 0 3 0 0 0 0 0 0 0 2.438 197175 chr12 112036757 112036759 GCT - ATXN2 Q28del 0.001 0 0 0 1 0 0 0 0 0 0 0 197176 chr14 58953863 58953863 A C rs140565291 KIAA0586 Nonsynonymous SNV K955Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 12.05 197177 chr14 59006820 59006820 T C rs11611 KIAA0586 Synonymous SNV I1443I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.017 197178 chr12 93205100 93205100 G A rs78908944 EEA1 Synonymous SNV Y718Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.209 197179 chr7 91726907 91726907 C T rs746860114 AKAP9 Nonsynonymous SNV T3469M 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.56 197180 chr10 5541210 5541210 G T CALML5 Synonymous SNV I64I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.995 197181 chr13 101264697 101264700 GAGA - rs757858517 TMTC4 L543Cfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 197182 chr10 61112187 61112187 T C rs553918259 FAM13C Nonsynonymous SNV E56G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 197183 chr14 65220359 65220359 G A rs748814015 SPTB Synonymous SNV P2166P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.255 197184 chr9 108284613 108284613 G C rs552703903 RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.057 197185 chr14 23549879 23549884 TCCTCC - rs775883645 ACIN1 E240_E241del 0.001 0 0 0 1 0 0 0 0 0 0 0 197186 chr1 236141167 236141167 T G NID1 X1248C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.25 197187 chr14 73719369 73719369 G A rs779849505 PAPLN Nonsynonymous SNV R327H 0.003 0 0 0 4 0 0 0 0 0 0 0 34 197188 chr14 75352316 75352316 A G rs774820919 DLST Nonsynonymous SNV Y42C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.89 197189 chr9 116811470 116811470 G A rs762295028 ZNF618 Nonsynonymous SNV G597S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 197190 chr10 75563076 75563076 G C rs569259517 NDST2 Synonymous SNV T728T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.235 197191 chr8 120855953 120855953 C T DSCC1 Nonsynonymous SNV M204I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.6 197192 chr10 79745881 79745881 T C rs146253630 POLR3A Nonsynonymous SNV I980V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.49 197193 chr1 247695459 247695461 TGG - rs543798884 OR2C3 T118del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 197194 chr9 124929180 124929180 G A rs769909753 MORN5 Nonsynonymous SNV G61R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 197195 chr13 31309799 31309799 C T rs150273767 ALOX5AP Synonymous SNV S19S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.29 197196 chr14 91655458 91655458 T G rs117996584 DGLUCY Nonsynonymous SNV V380G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22 197197 chr9 125860063 125860063 C G rs773784771 RABGAP1 Nonsynonymous SNV T891S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 197198 chr12 14947579 14947579 C T WBP11 Nonsynonymous SNV G205S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 197199 chr9 126144149 126144149 C T rs745557056 DENND1A Synonymous SNV P875P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 197200 chr13 42161779 42161779 G A rs201548458 VWA8 Nonsynonymous SNV R1714C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 197201 chr1 248487017 248487017 A G rs371662956 OR2M7 Nonsynonymous SNV L285P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.73 197202 chr10 94390091 94390091 T C KIF11 Synonymous SNV T488T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.494 197203 chr10 95372734 95372734 G T rs1131978 PDE6C Synonymous SNV L84L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.531 197204 chr9 130885286 130885286 C A PTGES2 Nonsynonymous SNV A272S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 197205 chr9 131023039 131023039 A G rs752554207 GOLGA2 Nonsynonymous SNV V449A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.967 197206 chr14 96953278 96953278 T C rs116298211 AK7 Nonsynonymous SNV L607P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 25.3 197207 chr13 48611930 48611930 C T rs754908546 NUDT15 Synonymous SNV V16V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 197208 chr3 17051287 17051287 A G PLCL2 Nonsynonymous SNV K24R 0 0.008 0 2 0 3 0.005 0 0 0 0 0 12.73 197209 chr10 99358589 99358589 T A rs373226228 HOGA1 Nonsynonymous SNV L90H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.8 197210 chr3 37826516 37826516 G A rs777371983 ITGA9 Nonsynonymous SNV D946N 0 0.01 0 0 0 4 0 0 0 0 0 0 23.3 197211 chr9 136251428 136251428 G A rs782064279 STKLD1 Nonsynonymous SNV A83T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 197212 chr13 99378425 99378425 G A rs374943370 SLC15A1 Nonsynonymous SNV T66M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.2 197213 chr12 4853800 4853800 G T rs781779147 GALNT8 Nonsynonymous SNV G265V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 197214 chr9 136915630 136915630 G A rs200145944 BRD3 Nonsynonymous SNV P194S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 197215 chr9 136915631 136915631 C A rs753201321 BRD3 Synonymous SNV T193T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.93 197216 chr2 26781421 26781421 G A rs757533828 OTOF Nonsynonymous SNV L7F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 197217 chr11 1017545 1017545 G T rs112313736 MUC6 Nonsynonymous SNV H1752Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 197218 chr9 139404238 139404238 G A rs754724517 NOTCH1 Synonymous SNV P972P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.55 197219 chr2 27281398 27281398 G A rs751993277 AGBL5 Nonsynonymous SNV R601Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 197220 chr2 27324915 27324915 C T rs775542451 CGREF1 Stop gain W85X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.502 197221 chr14 104208157 104208157 G A rs779672911 PPP1R13B Nonsynonymous SNV H598Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.407 197222 chr2 27804653 27804653 T A rs534896506 C2orf16 Synonymous SNV S1738S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.372 197223 chr2 27804686 27804686 A C rs201985200 C2orf16 Nonsynonymous SNV R1749S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.01 197224 chr9 139934471 139934473 CTC - NPDC1 E279del 0 0 0.003 0 0 0 0 1 0 0 0 0 197225 chr9 139935361 139935361 G A rs199979725 NPDC1 Nonsynonymous SNV T154M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 197226 chr9 139945729 139945729 G A rs143374800 ENTPD2 Synonymous SNV L160L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.913 197227 chr14 105352385 105352385 G A rs748245743 CEP170B Synonymous SNV P581P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.068 197228 chr14 105964225 105964225 G A rs374594192 TEDC1 Nonsynonymous SNV E255K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.196 197229 chr12 52824396 52824396 C T rs141974009 KRT75 Nonsynonymous SNV E322K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 197230 chr15 52090435 52090435 T C rs150056831 TMOD2 Synonymous SNV S222S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.254 197231 chr9 19082971 19082971 G A rs772778861 HAUS6 Nonsynonymous SNV S257L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 197232 chr9 19276474 19276474 T C rs978375022 DENND4C Nonsynonymous SNV I101T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 197233 chr14 20940540 20940540 A T rs779670793 PNP Nonsynonymous SNV I29L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 197234 chr3 49934059 49934059 G A rs199894526 MST1R Nonsynonymous SNV H679Y 0 0.01 0 0 0 4 0 0 0 0 0 0 10.54 197235 chr2 48586194 48586194 A G rs772402580 FOXN2 Synonymous SNV G182G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.683 197236 chr9 32632288 32632288 G A rs143742251 TAF1L Nonsynonymous SNV S1097L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 197237 chr15 101565029 101565029 G A rs141102052 LRRK1 Nonsynonymous SNV V697I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.9 197238 chr2 54035486 54035486 G A rs35950300 ERLEC1 Synonymous SNV S310S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.326 197239 chr11 113270520 113270520 A G rs987084811 ANKK1 Nonsynonymous SNV H610R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.094 197240 chr14 21990206 21990206 G A rs541184864 SALL2 Nonsynonymous SNV P888L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.775 197241 chr15 60298061 60298061 C A rs546991668 FOXB1 Nonsynonymous SNV T300N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 197242 chr2 54154570 54154570 A G rs35175837 PSME4 Synonymous SNV D518D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.08 197243 chr2 54570958 54570958 A G rs61744051 C2orf73 Synonymous SNV P112P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.764 197244 chr9 35449972 35449972 A G rs10972479 ATP8B5P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 197245 chr15 23892083 23892083 G A MAGEL2 Synonymous SNV T269T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 197246 chr9 35705569 35705569 C T rs368519089 TLN1 Synonymous SNV A1904A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 197247 chr9 35753170 35753170 C A rs3750436 MSMP Nonsynonymous SNV G116V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 197248 chr11 64535215 64535215 G A rs142066092 SF1 Synonymous SNV P275P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 197249 chr9 36091257 36091257 C T rs3736884 RECK Synonymous SNV S334S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 197250 chr9 36607660 36607660 A G rs35142210 MELK Nonsynonymous SNV K88R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.55 197251 chr14 23451353 23451353 C G rs559493478 AJUBA Nonsynonymous SNV L41F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 197252 chr15 33445590 33445590 G A rs201922335 FMN1 Nonsynonymous SNV S509L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 197253 chr11 117392111 117392111 T C rs142156730 DSCAML1 Nonsynonymous SNV H316R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.038 197254 chr11 117864864 117864864 T C IL10RA Nonsynonymous SNV Y230H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 197255 chr15 34553200 34553200 C T rs371696267 SLC12A6 Nonsynonymous SNV R98Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 197256 chr12 56551296 56551296 - ACGAGGACAGCA MYL6B N193_G194insEDSN 0.005 0 0 2 6 0 0.005 0 0 0 0 0 197257 chr2 69409770 69409770 G A rs376960445 ANTXR1 Nonsynonymous SNV R444Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.99 197258 chr9 5756354 5756354 T C RIC1 Nonsynonymous SNV I575T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 197259 chr9 5922306 5922306 G A rs754545317 KIAA2026 Synonymous SNV S1230S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.285 197260 chr2 70918014 70918014 C T rs782220405 ADD2 Synonymous SNV L267L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.21 197261 chr9 69002314 69002314 C A MIR1299 0 0 0.003 0 0 0 0 1 0 0 0 0 6.306 197262 chr3 58127649 58127649 G A rs750338538 FLNB Nonsynonymous SNV R1725K 0.001 0.008 0 0 1 3 0 0 0 0 0 0 14.83 197263 chr8 38852936 38852936 C G rs938607987 TM2D2 Synonymous SNV L29L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.87 197264 chr15 40660282 40660282 C A DISP2 Synonymous SNV R657R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.25 197265 chr9 72741228 72741228 G C MAMDC2 Nonsynonymous SNV R266P 0 0 0.003 0 0 0 0 1 0 0 0 0 33 197266 chr2 71297674 71297674 G A rs77352101 NAGK Synonymous SNV G24G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.62 197267 chr9 77390829 77390829 G T TRPM6 Nonsynonymous SNV H1120N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 197268 chr15 41337159 41337159 A G rs746305349 INO80 Synonymous SNV L950L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.277 197269 chr2 72562084 72562084 A G EXOC6B Synonymous SNV L685L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.182 197270 chr2 72945309 72945309 A C EXOC6B Nonsynonymous SNV S85A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.3 197271 chr2 73115508 73115508 T C SPR Nonsynonymous SNV W124R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 197272 chr12 63083531 63083531 T G PPM1H Nonsynonymous SNV K398T 0.004 0 0 0 5 0 0 0 0 0 0 0 29.2 197273 chr14 31374738 31374738 A G rs139028007 STRN3 Nonsynonymous SNV F555L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 197274 chr9 79834890 79834890 A G rs41307461 VPS13A Nonsynonymous SNV N259D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.677 197275 chr8 67089593 67089593 G A CRH Synonymous SNV H40H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 197276 chr9 91360777 91360777 G A rs148056946 MIR4289 0 0 0.01 0 0 0 0 3 0 0 0 0 7.108 197277 chr9 95069242 95069242 A G rs375530094 NOL8 Synonymous SNV N879N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.016 197278 chr15 78913071 78913073 CAG - CHRNA3 L23del 0.002 0 0 0 2 0 0 0 0 0 0 0 197279 chr11 124824658 124824658 T C rs141534483 CCDC15 Synonymous SNV P10P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 2.207 197280 chr14 51355582 51355582 C T rs201748660 ABHD12B Synonymous SNV T170T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 197281 chr2 95940501 95940501 G A rs150054018 PROM2 Synonymous SNV A56A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.496 197282 chrM 1408 1408 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 197283 chrX 101817814 101817814 G A rs17284949 NXF4 0 0 0.003 0 0 0 0 1 0 0 0 0 3.932 197284 chr14 56107132 56107132 A G KTN1 Nonsynonymous SNV Q652R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 197285 chrX 104464353 104464353 C A rs372780941 TEX13A Nonsynonymous SNV E175D 0 0 0.007 0 0 0 0 2 0 0 0 0 17.13 197286 chrX 106186420 106186420 G A rs376433331 MORC4 Synonymous SNV I567I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.959 197287 chrX 107224505 107224505 G C TEX13B Nonsynonymous SNV N248K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 197288 chr14 59112926 59112926 G A rs200689653 DACT1 Nonsynonymous SNV A492T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.44 197289 chrX 112058599 112058599 G C rs200348859 AMOT Nonsynonymous SNV A460G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.5 197290 chr14 61445975 61445975 T C rs191207997 TRMT5 Nonsynonymous SNV H242R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 197291 chr11 129939941 129939941 C G rs771572204 APLP2 Synonymous SNV L23L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.35 197292 chr14 62162430 62162430 C T rs1033057322 HIF1A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.898 197293 chrX 123202419 123202419 C T rs769331923 STAG2 Synonymous SNV D757D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 197294 chr11 130343335 130343335 C T rs893805649 ADAMTS15 Synonymous SNV S824S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 197295 chr2 102625068 102625068 G A rs147243599 IL1R2 Nonsynonymous SNV V11I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.143 197296 chr2 103236579 103236579 C T SLC9A2 Nonsynonymous SNV A91V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 197297 chrX 13337345 13337345 G A rs753162194 ATXN3L Nonsynonymous SNV R237C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 197298 chr14 65054894 65054912 GCCATCTCTCAGAGAAAAA - rs766922970 PPP1R36 P322Lfs*12 0.002 0 0.003 0 2 0 0 1 0 0 0 0 197299 chr9 111761469 111761469 C G rs116781162 CTNNAL1 Nonsynonymous SNV R70P 0 0 0 1 0 0 0.003 0 0 0 0 0 34 197300 chr9 111947803 111947803 C T rs779459216 EPB41L4B Nonsynonymous SNV G795E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.93 197301 chrX 140995997 140995997 C T rs753618304 MAGEC1 Nonsynonymous SNV T936M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 197302 chr14 69529191 69529191 C G rs776423571 DCAF5 Synonymous SNV V327V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 197303 chr3 123987919 123987919 C T rs141564219 KALRN Synonymous SNV D260D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.844 197304 chrX 151336841 151336841 G C rs76096542 GABRA3 Synonymous SNV T446T 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Benign 2.268 197305 chr15 72432381 72432381 C T rs773217549 SENP8 Synonymous SNV F139F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.344 197306 chr9 116060115 116060115 G A rs781139505 RNF183 Nonsynonymous SNV T117M 0 0 0 1 0 0 0.003 0 0 0 0 0 24 197307 chrX 153174571 153174571 G A rs782393297 ARHGAP4 Nonsynonymous SNV R854C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 197308 chr9 116356272 116356272 T G RGS3 Nonsynonymous SNV C25G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.29 197309 chrX 153220978 153220978 T C rs3027884 HCFC1 Nonsynonymous SNV T958A 0.002 0.003 0.003 1 2 1 0.003 1 1 0 0 0 Benign/Likely benign 25.3 197310 chrX 17065497 17065497 G A REPS2 Nonsynonymous SNV D266N 0 0 0.003 0 0 0 0 1 0 0 0 0 21 197311 chr2 135848656 135848656 T C rs767842373 RAB3GAP1 Nonsynonymous SNV V80A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 14.52 197312 chr11 86666080 86666080 G A rs373565387 FZD4 Synonymous SNV G16G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.59 197313 chr16 12798507 12798507 T G CPPED1 Nonsynonymous SNV K230T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.65 197314 chr11 2638194 2638194 T G rs10832378 KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.288 197315 chrX 36403066 36403066 T C CFAP47 Nonsynonymous SNV I3170T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 197316 chr11 30032483 30032483 C T rs199569433 KCNA4 Synonymous SNV Q581Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.752 197317 chr11 30921143 30921143 C T rs7947732 DCDC1 Synonymous SNV K674K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 197318 chr11 31824263 31824263 G T rs141873759 PAX6 Synonymous SNV R45R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.488 197319 chr11 31838139 31838139 C T rs74750543 PAX6-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.845 197320 chr2 160035080 160035080 C T rs747252852 TANC1 Nonsynonymous SNV A438V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.076 197321 chr13 114303822 114303822 G A rs75187049 ATP4B Nonsynonymous SNV A248V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.064 197322 chr2 160206420 160206420 T C BAZ2B Synonymous SNV E1518E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.104 197323 chrX 68725266 68725266 G A FAM155B Synonymous SNV L47L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.385 197324 chr2 163130398 163130398 G A rs35677292 IFIH1 Synonymous SNV I787I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.14 197325 chr2 166221759 166221759 C G SCN2A Nonsynonymous SNV A1169G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 197326 chr12 101573831 101573831 C T rs780465977 SLC5A8 Synonymous SNV A403A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 197327 chrX 75649780 75649780 A G rs782104033 MAGEE1 Nonsynonymous SNV K486R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 197328 chr2 169716051 169716051 G A rs375743309 NOSTRIN Synonymous SNV A333A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.12 197329 chrX 85119810 85119810 T C rs771202880 CHM Nonsynonymous SNV Q596R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 197330 chr9 13138021 13138021 C A MPDZ Nonsynonymous SNV G1346W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 197331 chr15 101427899 101427899 G A rs146169888 ALDH1A3 Synonymous SNV R109R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.14 197332 chr10 101295043 101295043 G C NKX2-3 Synonymous SNV P220P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 197333 chr9 131708473 131708473 G A DOLK Synonymous SNV F370F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.561 197334 chr16 2229617 2229617 G A rs201211065 CASKIN1 Nonsynonymous SNV P1251L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 197335 chr10 102257821 102257821 G A rs191855412 SEC31B Nonsynonymous SNV R610C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 197336 chr10 102789818 102789818 C G rs78072468 PDZD7 Synonymous SNV G53G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.18 197337 chr12 108013765 108013765 G A rs201620480 BTBD11 Nonsynonymous SNV V356I 0 0.003 0 0 0 1 0 0 0 0 0 0 29 197338 chr12 108641892 108641892 G T rs561509390 WSCD2 Nonsynonymous SNV Q490H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 197339 chr10 103345140 103345140 G A POLL Nonsynonymous SNV P169L 0 0 0.007 0 0 0 0 2 0 0 0 0 6.549 197340 chr9 133911681 133911681 G A LAMC3 Stop gain W313X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 197341 chr10 103530179 103530179 G A rs116363564 FGF8 Synonymous SNV T110T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.09 197342 chr16 23693443 23693443 C T rs35056440 PLK1 Nonsynonymous SNV L261F 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 23.2 197343 chr10 104377180 104377180 T C rs141950577 SUFU Synonymous SNV L431L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.505 197344 chr10 105145110 105145110 C T rs140010527 TAF5 Synonymous SNV D564D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 197345 chr15 31851280 31851280 T C OTUD7A Nonsynonymous SNV I148V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.41 197346 chr3 183013109 183013109 T C rs776024697 MCF2L2 Nonsynonymous SNV T552A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.932 197347 chr2 179473967 179473999 ATACCGTGGTCATTTTCAACTTTGATCATATAC - TTN Y8282_I8292del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197348 chr12 110234351 110234351 C G rs148225182 TRPV4 Synonymous SNV L390L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.743 197349 chr16 27895868 27895868 G T rs200167231 GSG1L Synonymous SNV S8S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.707 197350 chr2 179587471 179587471 C T rs767194863 TTN Synonymous SNV V6141V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 1.068 197351 chr10 106128277 106128277 C G rs146338021 CFAP58 Nonsynonymous SNV Q297E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 197352 chr10 108458984 108458984 G A rs775365549 SORCS1 Synonymous SNV I467I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 197353 chr15 40034082 40034082 T C rs367712135 FSIP1 Synonymous SNV E193E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 197354 chr12 111856588 111856588 C A rs111360561 SH2B3 Nonsynonymous SNV S213R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 197355 chr3 186790679 186790679 A C rs758711603 ST6GAL1 Nonsynonymous SNV N250H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.57 197356 chr16 15785021 15785021 G A rs780330442 NDE1 Nonsynonymous SNV V182M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 197357 chr12 116446654 116446654 T C rs201414612 MED13L Nonsynonymous SNV S522G 0 0.005 0 2 0 2 0.005 0 0 0 0 0 11.38 197358 chr10 120353667 120353667 T C rs139127110 PRLHR Nonsynonymous SNV M364V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 197359 chr16 3640054 3640056 AAT - rs199897550 SLX4 I1195del 0.002 0 0 0 2 0 0 0 0 0 0 0 197360 chr12 122261163 122261163 G A rs200570124 SETD1B Nonsynonymous SNV V1560I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.57 197361 chr2 198400262 198400262 A G rs762094211 HSPE1-MOB4, MOB4 Synonymous SNV Q23Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.031 197362 chr2 201435833 201435833 C G SGO2 Nonsynonymous SNV A255G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.114 197363 chr15 50519353 50519353 G T SLC27A2 Nonsynonymous SNV D426Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 197364 chr9 14722488 14722488 T C rs140658558 CER1 Synonymous SNV P61P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.756 197365 chr15 51834582 51834582 A G DMXL2 Synonymous SNV H351H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.193 197366 chr10 129923871 129923871 G A rs761899825 MKI67 Nonsynonymous SNV P21S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 197367 chr9 17415794 17415794 T G rs202121332 CNTLN Nonsynonymous SNV F934L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.074 197368 chr12 123950176 123950176 C T rs148264502 SNRNP35 Nonsynonymous SNV A30V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 197369 chr10 134178984 134178984 G A rs114707935 LRRC27 Nonsynonymous SNV R322H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.028 197370 chr10 134663839 134663839 C T rs149682006 CFAP46 Nonsynonymous SNV R1954Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.11 197371 chr16 2550377 2550377 G A rs377448015 TBC1D24 Nonsynonymous SNV A465T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.006 197372 chr10 134663840 134663840 G A rs536385484 CFAP46 Nonsynonymous SNV R1954W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 197373 chr16 53342667 53342667 G A rs775643486 CHD9 Nonsynonymous SNV G2375S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 197374 chr15 62457104 62457104 G C rs201044858 C2CD4B Nonsynonymous SNV P27R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.8 197375 chr9 34379673 34379673 C T C9orf24 Nonsynonymous SNV A119T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 28 197376 chr9 35819254 35819254 G A rs1020047743 FAM221B Nonsynonymous SNV R331C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 197377 chr2 217285228 217285228 T A rs369180164 SMARCAL1 Nonsynonymous SNV F357I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 27.3 197378 chr9 37737208 37737210 AAC - rs576127556 FRMPD1 Q508del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 197379 chr15 65497680 65497680 C T rs200090554 CILP Synonymous SNV S183S 0.003 0 0 0 4 0 0 0 0 0 0 0 12.02 197380 chr12 132862926 132862926 G A GALNT9 Nonsynonymous SNV A110V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.42 197381 chr4 5843141 5843141 C T rs748183992 CRMP1 Synonymous SNV A349A 0 0.008 0 1 0 3 0.003 0 0 0 0 0 14.45 197382 chr16 58577438 58577441 AGAC - rs772080832 CNOT1 V1502Ifs*18 0.002 0 0 0 2 0 0 0 0 0 0 0 197383 chr16 58743339 58743339 T C rs779368248 GOT2 Synonymous SNV T341T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.923 197384 chr2 219878651 219878651 T A rs376903310 CFAP65 Nonsynonymous SNV I1240F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 197385 chr10 25140348 25140348 A G PRTFDC1 Nonsynonymous SNV L200S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 197386 chr10 28491182 28491182 G A MPP7 Nonsynonymous SNV A19V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.79 197387 chr16 3358467 3358467 C T rs904409471 ZNF75A Synonymous SNV D13D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 197388 chr9 73002776 73002776 G A rs761382355 KLF9 Synonymous SNV H217H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.968 197389 chr2 220250817 220250817 G A rs754619594 DNPEP Nonsynonymous SNV P163S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.71 197390 chr9 77339565 77339565 C T rs139342869 TRPM6 Synonymous SNV T2006T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.3 197391 chr15 74622668 74622668 G A rs774231314 CCDC33 Nonsynonymous SNV G70S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.429 197392 chr2 220505684 220505684 G A SLC4A3 Synonymous SNV A1234A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.3 197393 chr16 46943597 46943597 C T rs779101620 GPT2 Nonsynonymous SNV T93M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 197394 chr2 227892658 227892658 T C rs16823077 COL4A4 Synonymous SNV L1347L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 8.238 197395 chr10 4884032 4884032 G A rs138083633 AKR1E2 Nonsynonymous SNV G246S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.969 197396 chr15 85487832 85487832 C T rs766006948 SLC28A1 Stop gain Q401X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 197397 chr10 5204962 5204962 C T rs61729618 AKR1C8P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 197398 chr4 40434714 40434725 GCGGCTGCGGCC - rs528269773 RBM47 A430_A433del 0 0.003 0 0 0 1 0 0 0 0 0 0 197399 chr4 44653612 44653612 C T YIPF7 Synonymous SNV K10K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.97 197400 chr10 5791876 5791876 C T rs368181642 TASOR2 Synonymous SNV D2083D 0 0 0.007 0 0 0 0 2 0 0 0 0 11.78 197401 chr15 89388797 89388797 C G rs370104735 ACAN Synonymous SNV T371T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 15.47 197402 chr15 89395120 89395120 G A rs35120858 ACAN Nonsynonymous SNV G708S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.73 197403 chr15 89398206 89398206 A G rs78770909 ACAN Nonsynonymous SNV E797G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.22 197404 chr15 89399966 89399966 G A rs61465251 ACAN Nonsynonymous SNV A1384T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.009 197405 chr15 89869917 89869917 G T POLG Synonymous SNV R546R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.2 197406 chr16 88501942 88501942 C T rs558108271 ZNF469 Synonymous SNV D2688D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.92 197407 chr10 72357965 72357965 A G PRF1 Synonymous SNV G504G 0 0 0.007 0 0 0 0 2 0 0 1 0 0.065 197408 chr12 49883288 49883288 A G rs914364348 SPATS2 Nonsynonymous SNV N49S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 197409 chr11 59573828 59573828 G A rs144762155 MRPL16 Nonsynonymous SNV R250C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 197410 chr10 73406411 73406411 C A rs377174522 CDH23 Nonsynonymous SNV P496T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.55 197411 chr16 69727569 69727571 CAA - rs775979767 NFAT5 Q1059del 0.001 0 0 0 1 0 0 0 0 0 0 0 197412 chr16 89016910 89016910 G - rs57686457 LOC100129697 E129Sfs*298 0.005 0.003 0.003 0 6 1 0 1 1 0 0 0 197413 chr2 241512646 241512646 C T rs76384945 RNPEPL1 Synonymous SNV A263A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 19.95 197414 chr4 71472213 71472213 G T rs951229979 AMBN Synonymous SNV G370G 0 0.008 0 0 0 3 0 0 0 0 0 0 0.002 197415 chr15 91462979 91462979 C A MAN2A2 Nonsynonymous SNV P1139T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 197416 chr10 79601934 79601934 T C rs150885638 DLG5 Nonsynonymous SNV H381R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.772 197417 chr12 52566865 52566865 C T rs765159323 KRT80 Nonsynonymous SNV R305H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 197418 chr10 87487639 87487639 G A rs201170791 GRID1 Synonymous SNV N502N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 197419 chr17 10533672 10533672 C T rs138194008 MYH3 Nonsynonymous SNV R1797H 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 35 197420 chr11 61584365 61584365 A T rs537676548 FADS1 Nonsynonymous SNV C13S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.811 197421 chr4 79293994 79293994 G T rs779188397 FRAS1 Nonsynonymous SNV D998Y 0 0.008 0 0 0 3 0 0 0 0 0 0 22.2 197422 chr11 62105545 62105545 C T rs148079160 ASRGL1 Synonymous SNV T32T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.55 197423 chr3 4853104 4853104 C T rs758670524 ITPR1 Synonymous SNV I2413I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.08 197424 chr11 62997031 62997031 A G rs34499840 SLC22A25 Nonsynonymous SNV Y32H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 197425 chr11 64604264 64604264 C T rs139110222 CDC42BPG Nonsynonymous SNV R444Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.15 197426 chr16 8722772 8722772 A C rs201893115 METTL22 Nonsynonymous SNV T107P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 197427 chr16 20348761 20348761 C G UMOD Nonsynonymous SNV R531T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 197428 chr16 88500176 88500176 G T ZNF469 Nonsynonymous SNV G2100W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 197429 chr17 26666692 26666692 C T rs140317871 TNFAIP1 Nonsynonymous SNV H49Y 0.002 0 0 5 2 0 0.013 0 0 0 0 0 23.5 197430 chr19 4511639 4511639 T C rs779331277 PLIN4 Nonsynonymous SNV K778R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.4 197431 chr4 123855756 123855756 T G SPATA5 Nonsynonymous SNV I336S 0 0.01 0 0 0 4 0 0 0 0 0 0 0.08 197432 chr16 28916814 28916816 GAG - RABEP2 L504del 0.001 0 0 0 1 0 0 0 0 0 0 0 197433 chr3 43074524 43074524 G T rs540079615 GASK1A Nonsynonymous SNV A257S 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.004 197434 chr3 44540821 44540821 G A rs750891592 ZNF852 Nonsynonymous SNV T483I 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.034 197435 chr16 30998261 30998261 G A rs779937999 HSD3B7 Nonsynonymous SNV R211H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 197436 chr16 31142245 31142245 C T rs572043246 KAT8 Nonsynonymous SNV R446W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 197437 chr11 117779262 117779262 G C rs552860182 TMPRSS13 Nonsynonymous SNV H449Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.694 197438 chr11 72466149 72466149 G A rs964981922 STARD10 Synonymous SNV P223P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 197439 chr11 73372643 73372643 T C PLEKHB1 Nonsynonymous SNV F189S 0.002 0 0 0 2 0 0 0 1 0 0 0 30 197440 chr11 73681062 73681062 C A DNAJB13 Nonsynonymous SNV T285N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 197441 chr17 17124829 17124829 G A rs141303532 FLCN Nonsynonymous SNV P298L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.819 197442 chr11 119216832 119216832 G A rs138913508 MFRP Synonymous SNV F65F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.21 197443 chr11 119244089 119244089 G A rs748269607 USP2 Synonymous SNV S34S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.172 197444 chr12 8192590 8192590 G C rs12580580 FOXJ2 Synonymous SNV L54L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.594 197445 chr11 75431214 75431214 C T rs201057349 MOGAT2 Nonsynonymous SNV S90L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 197446 chr16 48201246 48201246 C T ABCC11 Nonsynonymous SNV R1363Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 197447 chr4 177098760 177098760 T A rs776196466 WDR17 Nonsynonymous SNV S1229R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 27.8 197448 chr10 127462807 127462807 G A rs554501102 MMP21 Nonsynonymous SNV A97V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 23.1 197449 chr11 77412631 77412631 T G rs189418355 RSF1 Nonsynonymous SNV K548T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 197450 chr16 55360314 55360314 G A rs769775558 IRX6 Nonsynonymous SNV A38T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.276 197451 chr3 49700819 49700819 C T BSN Nonsynonymous SNV A3743V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.65 197452 chr16 55725948 55725948 G A rs147833183 SLC6A2 Nonsynonymous SNV R196H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 197453 chr3 49847613 49847613 C T rs781015011 UBA7 Nonsynonymous SNV R546H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.344 197454 chr10 132961455 132961455 C G rs148112736 TCERG1L Nonsynonymous SNV G322R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.384 197455 chr16 57406507 57406507 G T rs200604856 CX3CL1 Synonymous SNV L9L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.613 197456 chr3 52555400 52555400 C T rs752987636 STAB1 Nonsynonymous SNV P1978S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 197457 chr11 129752496 129752498 TTT - rs778449837 NFRKB K336del 0 0 0.003 0 0 0 0 1 0 0 0 0 197458 chr3 57199264 57199264 G A IL17RD Synonymous SNV C17C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.83 197459 chr3 57303603 57303603 C G rs138485817 APPL1 Nonsynonymous SNV S673C 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 24.3 197460 chr17 31341086 31341086 T C ASIC2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 197461 chr15 49420186 49420186 T G rs770987851 COPS2 Synonymous SNV L438L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.726 197462 chr13 113814357 113814357 G A rs143900275 PROZ Nonsynonymous SNV V34I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.032 197463 chr10 21806050 21806050 A G rs868155746 SKIDA1 Synonymous SNV A234A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.075 197464 chr3 62248680 62248680 T C rs141556581 PTPRG-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.004 197465 chr5 31526964 31526964 C G DROSHA Nonsynonymous SNV G26R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 29 197466 chr15 52606397 52606397 C T rs770046260 MYO5A Nonsynonymous SNV V1753M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 197467 chr17 43011971 43011971 C G rs140975723 KIF18B Nonsynonymous SNV E197D 0.008 0.008 0.003 1 9 3 0.003 1 0 0 0 0 16.09 197468 chr11 17665030 17665030 C T OTOG Nonsynonymous SNV S2825F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 197469 chr3 73433137 73433137 C T rs141906672 PDZRN3 Synonymous SNV L558L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.612 197470 chr15 54305191 54305191 A G rs141195414 UNC13C Nonsynonymous SNV K31E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.6 197471 chr13 23913589 23913589 C A SACS Nonsynonymous SNV D1329Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 197472 chr11 18424407 18424407 G T rs116841148 LDHA Nonsynonymous SNV A89S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25 197473 chr3 73673342 73673342 G C rs766656482 PDZRN3 Nonsynonymous SNV T212S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 197474 chr5 34945012 34945012 G A rs144600070 DNAJC21 Nonsynonymous SNV V342M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 27.5 197475 chr12 102158354 102158354 C T rs183435240 GNPTAB Nonsynonymous SNV V781M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.41 197476 chr16 76573746 76573746 A G rs143225992 CNTNAP4 Nonsynonymous SNV I988M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.6 197477 chr13 25831418 25831418 G A rs143466257 MTMR6 Synonymous SNV S337S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.1 197478 chr5 37341234 37341234 C T rs148814027 NUP155 Nonsynonymous SNV V402M 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 27.2 197479 chr15 58004253 58004253 G A rs535153229 GCOM1, POLR2M Nonsynonymous SNV R120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 197480 chr13 28919681 28919681 C T rs372581866 FLT1 Synonymous SNV S752S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.51 197481 chr15 59523937 59523937 G A rs139225644 MYO1E Synonymous SNV N158N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 197482 chr16 81303871 81303871 C T BCO1 Synonymous SNV G317G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 197483 chr5 43506449 43506449 T C rs17853711 C5orf34 Synonymous SNV T111T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.039 197484 chr16 81479140 81479140 C A CMIP Synonymous SNV S98S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 197485 chr3 108719502 108719502 C T rs371248603 MORC1 Nonsynonymous SNV A697T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.796 197486 chr11 2424675 2424675 G C rs375280040 TSSC4 Nonsynonymous SNV W271S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.123 197487 chr17 47784370 47784370 C T rs775720072 SLC35B1 Synonymous SNV L55L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.89 197488 chr11 2432686 2432686 G A rs201710397 TRPM5 Nonsynonymous SNV A893V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 197489 chr13 36124631 36124631 G A rs183274221 NBEA Synonymous SNV E2201E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 12.38 197490 chr12 109605754 109605754 C T rs752191018 ACACB Synonymous SNV R280R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.26 197491 chr13 36905707 36905707 A C rs767178551 SPART Synonymous SNV V279V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.829 197492 chr12 109839022 109839022 G A rs370534729 MYO1H Nonsynonymous SNV R216H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 197493 chr11 2683412 2683412 A C KCNQ1OT1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.393 197494 chr12 109889430 109889430 G A KCTD10 Synonymous SNV R305R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.15 197495 chr15 65621400 65621400 C T rs768977354 IGDCC3 Synonymous SNV T764T 0.004 0 0 0 5 0 0 0 0 0 0 0 12.33 197496 chr13 42267024 42267024 G T rs757115134 VWA8 Nonsynonymous SNV P1217T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 197497 chr11 293914 293914 G A rs149726558 PGGHG Nonsynonymous SNV E567K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 197498 chr16 84456132 84456132 A G rs373166793 ATP2C2 Nonsynonymous SNV Y103C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.084 197499 chr12 113304598 113304598 C T rs775209653 RPH3A Nonsynonymous SNV R66C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 34 197500 chr15 68570781 68570781 A T FEM1B Nonsynonymous SNV Y9F 0.005 0 0 0 6 0 0 0 0 0 0 0 12.05 197501 chr15 69072461 69072461 G T rs77729713 ANP32A Synonymous SNV R237R 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 Benign 10.8 197502 chr15 69238167 69238167 T C rs747187227 SPESP1 Synonymous SNV T98T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 0.087 197503 chr16 86601882 86601882 G A rs760918154 FOXC2 Nonsynonymous SNV G314D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 197504 chr13 47409030 47409030 G C rs557086481 HTR2A Nonsynonymous SNV S369C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.078 197505 chr3 119812197 119812197 T C GSK3B Nonsynonymous SNV S29G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.27 197506 chr13 50236060 50236060 G A rs374483573 EBPL Synonymous SNV D128D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 3.182 197507 chr17 57958377 57958377 T C rs137993141 TUBD1 Nonsynonymous SNV I139V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 197508 chr10 5788373 5788373 G A rs184954504 TASOR2 Nonsynonymous SNV G916S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 197509 chr16 88782743 88782743 G A rs774516383 MIR4722 0.001 0 0 0 1 0 0 0 0 0 0 0 0.478 197510 chr3 123650020 123650020 C T rs145291819 CCDC14 Synonymous SNV K417K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 197511 chr16 88870369 88870369 A C rs587780306 CDT1 Nonsynonymous SNV T44P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.325 197512 chr11 46897434 46897434 T C rs151234321 LRP4 Nonsynonymous SNV N1207S 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 197513 chr17 40939324 40939324 A G WNK4 Nonsynonymous SNV D166G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 197514 chr11 47304450 47304450 A G rs138087178 MADD Nonsynonymous SNV N598D 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Likely benign 17.35 197515 chr16 89349788 89349788 T C rs61729371 ANKRD11 Synonymous SNV K1054K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.08 197516 chr12 124303584 124303584 C T rs778218750 DNAH10 Nonsynonymous SNV L1172F 0.001 0 0 0 1 0 0 0 0 0 0 0 27 197517 chr16 89390977 89390977 C T rs7186101 LOC100287036 Nonsynonymous SNV P121L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.96 197518 chr11 48266691 48266691 C A rs868239093 OR4X2 Nonsynonymous SNV N12K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 197519 chr16 89592824 89592824 G A rs376360606 SPG7 Nonsynonymous SNV E236K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 197520 chr12 124829179 124829179 C T rs2229841 NCOR2 Nonsynonymous SNV V1550M 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.2 197521 chr17 65688921 65688921 C T rs747294926 PITPNC1 Nonsynonymous SNV L306F 0.003 0 0 3 3 0 0.008 0 0 0 0 0 29.7 197522 chr10 72195345 72195345 G C rs2231959 NODAL Synonymous SNV L63L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 9.324 197523 chr14 104558985 104558985 C T ASPG Nonsynonymous SNV T33M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.3 197524 chr14 104559838 104559838 C T rs765705488 ASPG Nonsynonymous SNV R68C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 197525 chr17 68128745 68128745 G A KCNJ16 Nonsynonymous SNV A208T 0.003 0 0 0 4 0 0 0 1 0 0 0 26 197526 chr3 133099233 133099233 G T rs149160063 TMEM108 Synonymous SNV G226G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.568 197527 chr17 4693443 4693443 G C GLTPD2 Nonsynonymous SNV G243A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 197528 chr3 138121035 138121037 AGA - rs752298978 MRAS K113del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197529 chr10 76790349 76790349 A G KAT6B Nonsynonymous SNV I1142V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.13 197530 chr10 76797677 76797677 G A rs370018285 DUPD1 Nonsynonymous SNV R194W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 197531 chr3 142030563 142030563 A C rs201560849 XRN1 Nonsynonymous SNV D1625E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 197532 chr11 500522 500522 C T rs757236119 RNH1 Synonymous SNV Q78Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.434 197533 chr5 126860492 126860492 C G rs143578156 PRRC1 Nonsynonymous SNV P125A 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 0.142 197534 chr11 5068072 5068072 T A OR52J3 Nonsynonymous SNV I106N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 197535 chr17 17410507 17410507 T C rs70965424 PEMT Synonymous SNV A195A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.298 197536 chr15 90168895 90168895 G A rs141989878 TICRR Nonsynonymous SNV R1784H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.022 197537 chr12 18836193 18836196 AAAC - rs985246320 PLCZ1 V409Mfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 197538 chr15 90340814 90340814 G C rs780044759 ANPEP Nonsynonymous SNV P717A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.69 197539 chr5 132159082 132159082 G A rs151074868 SHROOM1 Nonsynonymous SNV P696S 0.002 0.01 0 0 2 4 0 0 0 0 0 0 25.3 197540 chr10 93247447 93247447 T C HECTD2 Nonsynonymous SNV F261S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 197541 chr3 164781312 164781312 G A rs139867598 SI Synonymous SNV Y275Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 8.427 197542 chr3 164906884 164906884 T C rs759125784 SLITRK3 Nonsynonymous SNV T579A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.83 197543 chr10 95095759 95095759 C T rs376304895 MYOF Synonymous SNV L1481L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.49 197544 chr17 76449439 76449439 C G rs149321263 DNAH17 Synonymous SNV T3505T 0.003 0 0 0 4 0 0 0 0 0 0 0 10.79 197545 chr17 6337271 6337271 G A rs144822294 AIPL1 Nonsynonymous SNV H82Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.812 197546 chr3 182946145 182946145 T C MCF2L2 Synonymous SNV L685L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.762 197547 chr14 24789068 24789068 G A rs146019507 ADCY4 Synonymous SNV C871C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.33 197548 chr17 76798536 76798536 C T USP36 Synonymous SNV E964E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.77 197549 chr17 6555330 6555330 C A rs375738897 C17orf100 Nonsynonymous SNV R33S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 197550 chr17 29281505 29281505 C A rs746077502 ADAP2 Nonsynonymous SNV P278T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 197551 chr14 38310794 38310794 T C rs61740232 TTC6 Nonsynonymous SNV W449R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 197552 chr17 78896587 78896587 G A rs144632265 RPTOR Nonsynonymous SNV A704T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.2 197553 chr14 52948997 52948997 T C rs140158462 TXNDC16 Synonymous SNV V416V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.15 197554 chr12 52585570 52585570 C T rs151126893 KRT80 Synonymous SNV P39P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.234 197555 chr3 196387763 196387763 G A rs62636588 NRROS Nonsynonymous SNV V417I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 197556 chr17 73482442 73482442 G T rs150495415 TMEM94 Nonsynonymous SNV R125L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 197557 chr5 169139165 169139165 A G rs375363462 DOCK2 Nonsynonymous SNV K533E 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 23.2 197558 chr4 435610 435610 C T rs782564907 ZNF721 Synonymous SNV A882A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.24 197559 chr16 2814774 2814774 G A rs145082336 SRRM2 Synonymous SNV S1415S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 7.02 197560 chr16 2820424 2820424 G A rs374581309 SRRM2 Nonsynonymous SNV R2698H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.58 197561 chr4 961360 961360 G C DGKQ Nonsynonymous SNV L322V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.45 197562 chr11 61068313 61068313 G A DDB1 Nonsynonymous SNV P1103S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 197563 chr14 64518607 64518607 G A rs199561218 SYNE2 Nonsynonymous SNV R2659Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 197564 chr11 620375 620375 G A rs139559471 CDHR5 Synonymous SNV L267L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.808 197565 chr4 2307111 2307111 G C ZFYVE28 Nonsynonymous SNV P289R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.008 197566 chr11 6220557 6220557 - C rs776191555 OR52W1 Frameshift insertion F36Lfs*91 0 0 0.003 1 0 0 0.003 1 0 0 0 0 197567 chr12 54903741 54903741 C G NCKAP1L Nonsynonymous SNV A186G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 197568 chr1 12418629 12418629 A C VPS13D Synonymous SNV G3346G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.994 197569 chr1 12418630 12418630 A C VPS13D Nonsynonymous SNV N3347H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 197570 chr14 70038425 70038425 G A CCDC177 Nonsynonymous SNV R639C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 197571 chr14 71444834 71444834 G A rs34222509 PCNX1 Nonsynonymous SNV A594T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.07 197572 chr11 64136169 64136169 C - rs748749887 MIR1237 0 0 0.003 0 0 0 0 1 0 0 0 0 197573 chr4 6925223 6925223 A G rs764593549 TBC1D14 Nonsynonymous SNV K36R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.303 197574 chr4 7435044 7435044 C T rs759095733 PSAPL1 Synonymous SNV A521A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.33 197575 chr11 118778301 118778301 C A rs139589770 BCL9L Synonymous SNV P141P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.37 197576 chr6 4128051 4128051 A G rs766728710 ECI2 Synonymous SNV I142I 0.001 0.01 0 0 1 4 0 0 0 0 0 0 2.159 197577 chr4 7780496 7780496 C T rs865904137 AFAP1 Synonymous SNV T546T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.45 197578 chr14 77767578 77767578 G C rs771995900 POMT2 Nonsynonymous SNV P224R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 13.85 197579 chr14 77907435 77907435 A G VIPAS39 Nonsynonymous SNV F197L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 197580 chr4 8584263 8584263 G A rs770418487 GPR78 Nonsynonymous SNV R225Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 197581 chr6 7583394 7583394 G A rs397516949 DSP Nonsynonymous SNV V1368M 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Uncertain significance 23.1 197582 chr17 79254530 79254530 C T rs145662017 SLC38A10 Nonsynonymous SNV V169M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.92 197583 chr17 39923673 39923673 G A rs2230407 JUP Synonymous SNV T289T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign/Likely benign 13.79 197584 chr17 40263887 40263887 C G rs200502586 DHX58 Nonsynonymous SNV W8C 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 26.6 197585 chr17 40277866 40277866 G C rs200061838 RAB5C Nonsynonymous SNV R196G 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 16.98 197586 chr11 121458785 121458785 T C rs201019377 SORL1 Nonsynonymous SNV F1291L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 197587 chr12 6495305 6495305 C T rs144218663 LTBR Synonymous SNV S163S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.91 197588 chr6 13697044 13697044 A G RANBP9 Nonsynonymous SNV V219A 0.004 0.008 0 0 5 3 0 0 0 0 0 0 27.7 197589 chr17 40695459 40695459 G A rs202115696 NAGLU Nonsynonymous SNV A479T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 197590 chr17 40828541 40828541 C T PLEKHH3 Nonsynonymous SNV R14H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 197591 chr17 40997782 40997782 A G rs144802618 AOC2 Nonsynonymous SNV D380G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 197592 chr17 79983257 79983257 C T rs555331928 LRRC45 Synonymous SNV L179L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 197593 chr17 79986145 79986145 C T rs567147404 LRRC45 Synonymous SNV D361D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 197594 chr14 91639672 91639672 C T rs148167595 DGLUCY Nonsynonymous SNV P166S 0 0.005 0 0 0 2 0 0 0 0 0 0 25.1 197595 chr14 91671139 91671139 G A rs34523602 DGLUCY Nonsynonymous SNV D512N 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.4 197596 chr4 17838943 17838943 C T rs368762683 NCAPG Synonymous SNV P757P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.84 197597 chr17 41246855 41246855 C T rs62625298 BRCA1 Synonymous SNV T184T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 8.843 197598 chr12 6936179 6936179 G A rs375081664 GPR162 Nonsynonymous SNV R242H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 197599 chr12 70004438 70004438 C T rs775173428 LRRC10 Nonsynonymous SNV D61N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 197600 chr12 7031529 7031529 G A rs782153369 ENO2 Nonsynonymous SNV R400H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 197601 chr17 8222852 8222852 C T ARHGEF15 Nonsynonymous SNV P769S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.508 197602 chr17 43226665 43226665 G C rs147398972 HEXIM1 Synonymous SNV A36A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.58 197603 chr6 26392768 26392768 A T rs142785600 BTN2A2 Nonsynonymous SNV H172L 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 25.1 197604 chr17 45773664 45773664 C T rs200547024 TBKBP1 Synonymous SNV N62N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 197605 chr14 96858583 96858583 G A AK7 Nonsynonymous SNV G31E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.4 197606 chr11 7021709 7021709 C T rs761322533 ZNF214 Nonsynonymous SNV R402Q 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 21.8 197607 chr15 100672316 100672316 C T rs748074154 ADAMTS17 Synonymous SNV P539P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.62 197608 chr11 71820979 71820979 A T rs367771928 ANAPC15 Nonsynonymous SNV L109H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.97 197609 chr12 80890072 80890072 C T rs545505456 PTPRQ Synonymous SNV T506T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.486 197610 chr15 101718301 101718301 G C CHSY1 Synonymous SNV L567L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.871 197611 chr4 53611376 53611376 G A rs780850725 ERVMER34-1 Synonymous SNV A104A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.752 197612 chr15 22925821 22925821 C T rs764145534 CYFIP1 Synonymous SNV N47N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 197613 chr15 25940138 25940138 G A rs751433110 ATP10A Synonymous SNV L972L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 197614 chr11 15665524 15665524 G A rs149421847 LOC102724957 Nonsynonymous SNV V17M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.625 197615 chr17 48746754 48746754 C T rs776309094 ABCC3 Synonymous SNV N702N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 197616 chr18 77170566 77170566 C T rs1063668 NFATC1 Synonymous SNV P97P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 6.716 197617 chr18 77171130 77171130 G A rs1063670 NFATC1 Synonymous SNV P285P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 5.224 197618 chr18 77246435 77246435 G A rs1063671 NFATC1 Synonymous SNV A288A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.597 197619 chr15 32929483 32929483 C T rs201625863 ARHGAP11A Nonsynonymous SNV P648S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 197620 chr16 72188155 72188155 G A rs756339188 PMFBP1 Synonymous SNV S123S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.19 197621 chr18 77464874 77464874 C T rs35925235 CTDP1 Synonymous SNV H124H 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 15.23 197622 chr4 70346533 70346533 C A UGT2B4 Nonsynonymous SNV R469L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 197623 chr12 9248214 9248214 C T rs200062192 A2M Nonsynonymous SNV R495H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.985 197624 chr11 18103014 18103014 T C rs28930681 SAAL1 Nonsynonymous SNV S426G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 197625 chr18 9399423 9399423 A G TWSG1 Synonymous SNV A190A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 197626 chr15 40590113 40590113 A C PLCB2 Stop gain Y401X 0 0.005 0 0 0 2 0 0 0 0 0 0 35 197627 chr19 1004956 1004956 C T rs762054649 GRIN3B Nonsynonymous SNV R486W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 197628 chr4 77300483 77300483 C T rs201748387 CCDC158 Nonsynonymous SNV R330H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 197629 chr11 85366671 85366671 G A rs146573578 TMEM126A Nonsynonymous SNV R35Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 197630 chr11 20180746 20180748 AAG - rs144687409 DBX1 S153del 0 0 0 1 0 0 0.003 0 0 0 0 0 197631 chr15 42126939 42126939 G T rs146887953 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV E22D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.7 197632 chr17 61901580 61901580 C T FTSJ3 Nonsynonymous SNV D340N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 197633 chr17 62518913 62518913 C G CEP95 Stop gain S106X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 197634 chr19 11485565 11485565 C T rs917857783 SWSAP1 Nonsynonymous SNV P70L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.7 197635 chr13 111117790 111117790 T C rs756880529 COL4A2 Synonymous SNV Y605Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 197636 chr19 13319801 13319801 C T CACNA1A Nonsynonymous SNV M2184I 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 14.32 197637 chr19 13418599 13418599 A G rs368033271 CACNA1A Synonymous SNV F662F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 8.464 197638 chr13 114164669 114164669 G T rs144008215 TMCO3 Synonymous SNV T321T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.927 197639 chr19 14281427 14281427 A G LOC100507373 0.005 0 0.003 0 6 0 0 1 0 0 0 0 16.27 197640 chr17 71192753 71192753 C T rs754720132 COG1 Synonymous SNV L141L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.33 197641 chr18 67860646 67860646 T C rs148445363 RTTN Synonymous SNV A295A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 7.064 197642 chr19 15226402 15226402 G A rs773383279 ILVBL Synonymous SNV N565N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.92 197643 chr6 70669904 70669904 A G COL19A1 Nonsynonymous SNV H318R 0 0.005 0 0 0 2 0 0 0 0 0 0 5.204 197644 chr12 109182782 109182782 G A SSH1 Nonsynonymous SNV P711L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.214 197645 chr12 109327974 109327974 C T rs143454180 SVOP Nonsynonymous SNV G296S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 19.81 197646 chr13 28009596 28009596 T A rs768397430 GTF3A Nonsynonymous SNV S320R 0.001 0 0 0 1 0 0 0 0 0 0 0 28 197647 chr4 121739628 121739628 G C rs767110605 PRDM5 Nonsynonymous SNV T177S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.8 197648 chr12 109623436 109623436 G A rs140603461 ACACB Nonsynonymous SNV G624E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 197649 chr15 57545623 57545623 A G rs776455318 TCF12 Nonsynonymous SNV Y215C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 197650 chr4 122682805 122682805 G A rs148344547 TMEM155 Stop gain Q8X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 197651 chr13 28841534 28841534 G A PAN3 Synonymous SNV K596K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 197652 chr12 111082819 111082819 G C rs190390987 TCTN1 Nonsynonymous SNV S411T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.015 197653 chr17 72915939 72915939 C T rs879066143 USH1G Nonsynonymous SNV R228H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.48 197654 chr17 73143719 73143719 A G JPT1 Synonymous SNV L77L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.379 197655 chr4 135121183 135121183 C T rs6830036 PABPC4L Nonsynonymous SNV S331N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 24.2 197656 chr12 113715160 113715160 C T rs560710381 TPCN1 Nonsynonymous SNV P324L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.72 197657 chr17 73723863 73723863 G A ITGB4 Synonymous SNV L132L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.24 197658 chr17 73754354 73754354 G A rs372653001 GALK1 Synonymous SNV F348F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 197659 chr13 41523964 41523964 T C rs200003493 ELF1 Synonymous SNV P145P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.87 197660 chr19 1792021 1792021 G A rs200743643 ATP8B3 Synonymous SNV N676N 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 0.553 197661 chr15 69223018 69223018 C T rs368487764 SPESP1 Nonsynonymous SNV A9V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 197662 chr12 122614538 122614538 C T rs774541902 MLXIP Synonymous SNV P263P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 197663 chr12 122674771 122674771 C T rs77598875 LRRC43 Synonymous SNV L253L 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 15.25 197664 chr6 112397538 112397538 G C TUBE1 Nonsynonymous SNV P208R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.1 197665 chr12 122720455 122720455 G A rs143287106 VPS33A Nonsynonymous SNV H333Y 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 15.74 197666 chr13 72440801 72440801 G A rs201008975 DACH1 Nonsynonymous SNV A36V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 197667 chr12 12630028 12630028 G A rs562052237 DUSP16 Synonymous SNV Y579Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 197668 chr19 1360996 1360996 G A rs200272591 PWWP3A Nonsynonymous SNV C291Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 197669 chr6 132891853 132891853 C T rs140176422 TAAR6 Synonymous SNV Y131Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.92 197670 chr6 132891932 132891932 A G rs150333502 TAAR6 Nonsynonymous SNV I158V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 197671 chr12 132551477 132551477 G A rs748382309 EP400 Synonymous SNV G2904G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 197672 chr12 133324588 133324588 C G ANKLE2 Nonsynonymous SNV V354L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 197673 chr17 79943415 79943415 G A rs144660143 ASPSCR1 Synonymous SNV S25S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.401 197674 chr17 30625187 30625187 C A rs148089007 RHBDL3 Synonymous SNV R188R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 197675 chr12 21325631 21325631 T G SLCO1B1 Synonymous SNV G44G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.211 197676 chr17 80391606 80391606 G A rs750795771 HEXD Nonsynonymous SNV E27K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 197677 chr17 80923546 80923546 G A rs75439108 B3GNTL1 Nonsynonymous SNV P16L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 13.8 197678 chr19 17003939 17003939 T C rs182109236 CPAMD8 Nonsynonymous SNV N1880D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.96 197679 chr6 155578154 155578154 G A rs780081320 TIAM2 Nonsynonymous SNV D594N 0 0.008 0 0 0 3 0 0 0 0 0 0 27.3 197680 chr5 1087084 1087084 G A rs147474197 SLC12A7 Synonymous SNV L203L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.42 197681 chr19 3590059 3590059 C G rs751286562 GIPC3 Synonymous SNV S270S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 197682 chr12 33031328 33031328 C T rs189040311 PKP2 Synonymous SNV T162T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.518 197683 chr5 6753019 6753019 G C TENT4A Nonsynonymous SNV V685L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.15 197684 chr5 6753096 6753096 G A rs139125630 TENT4A Synonymous SNV P710P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.33 197685 chr12 4460520 4460520 C T rs149094984 TIGAR Nonsynonymous SNV P120S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 197686 chr12 4651060 4651060 C G rs11063218 RAD51AP1 Nonsynonymous SNV P10A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.4 197687 chr12 4651098 4651098 T C rs11063219 RAD51AP1 Synonymous SNV D22D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.23 197688 chr5 14497118 14497118 T C rs760800617 TRIO Nonsynonymous SNV S2671P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 197689 chr5 15936783 15936783 T C rs181058257 FBXL7 Nonsynonymous SNV Y275H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.69 197690 chr12 48144992 48144992 G A rs745621516 RAPGEF3 Synonymous SNV H128H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 197691 chr18 25593772 25593772 T C rs150017015 CDH2 Nonsynonymous SNV S61G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 197692 chr12 49445392 49445392 G T rs202076833 KMT2D Nonsynonymous SNV P692T 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign/Likely benign 9.233 197693 chr12 49993792 49993792 G A rs760701513 FAM186B Nonsynonymous SNV P544L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 197694 chr12 50304601 50304601 A C rs558682745 LINC02396 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 197695 chr19 2127197 2127197 C T rs200136075 AP3D1 Synonymous SNV T270T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.2 197696 chr5 40998245 40998245 C T rs146755507 MROH2B Nonsynonymous SNV R1556H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 197697 chr14 24844919 24844919 G C NFATC4 Nonsynonymous SNV E643Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 197698 chr16 1569962 1569967 CTTGGC - rs746697405 IFT140 A1319_K1320del 0 0.003 0 0 0 1 0 0 0 0 0 0 197699 chr19 2217023 2217023 C T rs141523228 DOT1L Synonymous SNV S826S 0.009 0.008 0.014 6 10 3 0.015 4 0 0 0 0 8.342 197700 chr18 43253663 43253663 C T rs769428059 SLC14A2 Nonsynonymous SNV T798M 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 25.9 197701 chr16 1820683 1820683 C T rs140703991 NME3 Stop gain W159X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 197702 chr14 35522646 35522646 A G rs1039624829 FAM177A1 Nonsynonymous SNV T110A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 197703 chr19 407228 407228 G A rs560139987 C2CD4C Synonymous SNV D378D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.786 197704 chr7 6449973 6449973 A C rs748083947 DAGLB Nonsynonymous SNV F407L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.24 197705 chr5 56177849 56177860 CAACAACAACAA - rs773074611 MAP3K1 T946_T949del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197706 chr5 56177858 56177860 CAA - MAP3K1 T949del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197707 chr16 1995499 1995499 C T rs140192228 RPL3L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 197708 chr17 39645705 39645705 G C rs147247343 KRT36 Nonsynonymous SNV P138A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.45 197709 chr5 57754269 57754269 T C PLK2 Synonymous SNV K194K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.677 197710 chr14 45432153 45432153 A G TOGARAM1 Nonsynonymous SNV S177G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 197711 chr11 59603336 59603336 C A rs761351635 CBLIF Nonsynonymous SNV G340W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 197712 chr16 2121909 2121909 C T rs760489473 TSC2 Nonsynonymous SNV R491C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 197713 chr12 53900941 53900941 T C rs373348483 NPFF Nonsynonymous SNV T33A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.031 197714 chr14 52923809 52923809 G A rs776394355 TXNDC16 Synonymous SNV L563L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 197715 chr12 57389976 57389976 G C GPR182 Nonsynonymous SNV R328P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 197716 chr12 57423362 57423362 G A rs573190348 MYO1A Nonsynonymous SNV R912W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 197717 chr18 64176269 64176269 G A rs3764472 CDH19 Synonymous SNV V597V 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 5.73 197718 chr18 645051 645051 G A rs199548152 CLUL1 Nonsynonymous SNV V451I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.558 197719 chr19 37210544 37210544 G C rs148635356 ZNF567 Nonsynonymous SNV E275D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 197720 chr5 79086852 79086852 G C rs200251867 CMYA5 Nonsynonymous SNV G3917R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.7 197721 chr5 79616781 79616781 G A rs374509583 SPZ1 Synonymous SNV Q249Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.944 197722 chr12 58022849 58022849 C T rs144922627 B4GALNT1 Nonsynonymous SNV G210R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign/Likely benign 25.2 197723 chr11 63365598 63365598 C T rs532186243 PLAAT3 Nonsynonymous SNV R18H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 197724 chr18 71740785 71740785 T G rs966176813 FBXO15 Nonsynonymous SNV I482L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 197725 chr12 6426808 6426808 T A rs771736951 PLEKHG6 Nonsynonymous SNV H289Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 197726 chr14 67147887 67147887 G T rs117256383 GPHN Nonsynonymous SNV V43L 0.005 0.008 0.01 1 6 3 0.003 3 0 0 0 0 Benign/Likely benign 24.4 197727 chr11 64118647 64118647 G A rs376735322 CCDC88B Nonsynonymous SNV A960T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.492 197728 chr18 77474854 77474854 A T CTDP1 Nonsynonymous SNV E346V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 197729 chr11 64622102 64622102 G A rs139248473 EHD1 Synonymous SNV D436D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.082 197730 chr17 48051197 48051197 T A DLX4 Nonsynonymous SNV W133R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 197731 chr19 45910365 45910365 C G rs117289933 CD3EAP Nonsynonymous SNV F14L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 28.3 197732 chr19 1007860 1007860 - C rs545736648 GRIN3B Frameshift insertion K738Qfs*34 0.003 0 0 0 3 0 0 0 0 0 0 0 197733 chr19 46651540 46651540 T A IGFL2 Nonsynonymous SNV V2E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 4.421 197734 chr19 10363356 10363356 A T MRPL4 Nonsynonymous SNV D85V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 197735 chr5 122361581 122361581 G A rs74557853 PPIC Synonymous SNV N136N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.3 197736 chr12 88524105 88524105 G A rs767725492 CEP290 Synonymous SNV D203D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.982 197737 chr19 49001988 49001988 C T LMTK3 Nonsynonymous SNV G809S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.3 197738 chr19 49002374 49002374 C G rs780931988 LMTK3 Nonsynonymous SNV G680A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 197739 chr19 42492088 42492088 G A rs143547136 ATP1A3 Synonymous SNV N130N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.527 197740 chr14 89061386 89061386 G A rs145272535 ZC3H14 Nonsynonymous SNV E106K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.554 197741 chr19 42566722 42566722 G A rs745782468 GRIK5 Synonymous SNV N142N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 197742 chr19 42584234 42584234 G A rs748914357 ZNF574 Synonymous SNV E582E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.479 197743 chr14 89171256 89171256 T C rs760733165 EML5 Nonsynonymous SNV K667E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 197744 chr19 4328758 4328758 G A rs769101366 STAP2 Synonymous SNV R168R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 197745 chr5 138730190 138730190 T A rs199886274 PROB1 Nonsynonymous SNV E194V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 197746 chr19 49675297 49675297 T G rs148763371 TRPM4 Nonsynonymous SNV L246R 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 29.7 197747 chr19 49926530 49926530 C G rs112077618 PTH2 Nonsynonymous SNV V23L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.007 197748 chr5 140711157 140711160 AAAT - rs761156313 PCDHGA1 N303Kfs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197749 chr5 140730551 140730551 G A rs776868264 PCDHGB1 Nonsynonymous SNV E242K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.16 197750 chr13 114523925 114523925 C T rs200546417 GAS6 Nonsynonymous SNV R650Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 197751 chr13 20763058 20763058 C G rs375599392 GJB2 Nonsynonymous SNV K221N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.72 197752 chr13 23913939 23913939 A G rs146451611 SACS Nonsynonymous SNV M1212T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.144 197753 chr16 78062057 78062057 G C rs150149068 CLEC3A Nonsynonymous SNV A57P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 197754 chr19 17317544 17317544 C T MYO9B Nonsynonymous SNV P1815S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 197755 chr5 149212279 149212279 G A rs763273879 PPARGC1B Nonsynonymous SNV E176K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 197756 chr5 149216457 149216459 GGA - rs769136749 PPARGC1B E779del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 197757 chr13 33344456 33344456 A G rs201083990 PDS5B Nonsynonymous SNV I1274M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.126 197758 chr5 149501519 149501519 G A rs56112987 PDGFRB Synonymous SNV D692D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.58 197759 chr11 78147811 78147811 T C rs953849956 NARS2 Nonsynonymous SNV M220V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 197760 chr16 84217321 84217321 T C TAF1C Star tloss M68V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.177 197761 chr16 84229443 84229443 G T ADAD2 Nonsynonymous SNV G359C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.23 197762 chr15 42147491 42147491 G A rs549339724 SPTBN5 Synonymous SNV D3118D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.816 197763 chr11 82894091 82894091 A G rs745633081 PCF11 Synonymous SNV P1607P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 197764 chr5 156918638 156918638 G A rs34882961 ADAM19 Nonsynonymous SNV P694S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 29.8 197765 chr5 160049451 160049451 T G ATP10B Nonsynonymous SNV T588P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 197766 chr19 54409642 54409642 C T rs56211557 PRKCG Synonymous SNV G612G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.99 197767 chr19 20728166 20728166 T C rs574446932 ZNF737 Synonymous SNV G281G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 197768 chr19 20728179 20728179 A T rs782531154 ZNF737 Nonsynonymous SNV I277K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.68 197769 chr19 20728197 20728197 T G rs565616608 ZNF737 Nonsynonymous SNV N271T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 197770 chr19 20728199 20728199 A T rs527980349 ZNF737 Synonymous SNV S270S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 197771 chr19 20728202 20728202 G A rs547643172 ZNF737 Synonymous SNV S269S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.41 197772 chr19 20728205 20728205 G C rs560961819 ZNF737 Synonymous SNV R268R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 197773 chr19 20728206 20728206 C T rs530008186 ZNF737 Nonsynonymous SNV R268H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.481 197774 chr19 20728208 20728208 C G rs549890687 ZNF737 Nonsynonymous SNV K267N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 197775 chr19 20728214 20728214 G A rs570037064 ZNF737 Synonymous SNV A265A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.31 197776 chr19 20728217 20728217 C T rs538867044 ZNF737 Synonymous SNV K264K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.583 197777 chr5 169472888 169472888 T C rs34133853 DOCK2 Synonymous SNV Y1315Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.44 197778 chr5 169535301 169535301 G A rs145129881 FOXI1 Nonsynonymous SNV A275T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 197779 chr13 77460211 77460211 A T rs748429681 KCTD12 Nonsynonymous SNV S25T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.096 197780 chr16 88800777 88800777 G A rs182793773 PIEZO1 Nonsynonymous SNV R723C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 197781 chr13 95055466 95055466 A G rs765190621 GPC6 Nonsynonymous SNV R555G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 197782 chr19 2422053 2422053 G C rs368711361 TMPRSS9 Nonsynonymous SNV A752P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.183 197783 chr13 96293572 96293572 C G rs200588264 DZIP1 Nonsynonymous SNV E192Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.1 197784 chr19 2768989 2768989 G A rs569712635 SGTA Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.116 197785 chr5 176824902 176824902 G A rs141898673 SLC34A1 Nonsynonymous SNV R512H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 197786 chr5 176911127 176911127 G A rs146789460 PDLIM7 Nonsynonymous SNV T372M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 197787 chr5 176935346 176935346 G A DOK3 Synonymous SNV C88C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.41 197788 chr16 89346570 89346570 G C ANKRD11 Nonsynonymous SNV P2127R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.211 197789 chr16 89702371 89702371 G A rs543287105 DPEP1 Nonsynonymous SNV E54K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 197790 chr5 177562257 177562257 C T rs141510669 RMND5B Nonsynonymous SNV P15L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.663 197791 chr17 78064058 78064065 GCGCGCGG - CCDC40 G987Afs*104 0.002 0 0 0 2 0 0 0 0 0 0 0 197792 chr17 78064069 78064092 CGTGCACGAACAACACGGGACGCG - CCDC40 V989_R996del 0.002 0 0 0 2 0 0 0 0 0 0 0 197793 chr19 56029465 56029465 G C rs4801331 SSC5D Nonsynonymous SNV M1274I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.66 197794 chr17 10212612 10212612 C T rs142532419 MYH13 Nonsynonymous SNV R1703H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 197795 chr19 34262922 34262922 C T rs149660944 CHST8 Nonsynonymous SNV R77W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 197796 chr5 180166573 180166573 G C rs150471203 OR2Y1 Synonymous SNV L162L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.04 197797 chr17 1639356 1639356 G T WDR81 Synonymous SNV G580G 0 0.005 0 0 0 2 0 0 0 0 0 0 9.992 197798 chr19 36258702 36258702 A G rs373157393 PROSER3 Nonsynonymous SNV K563E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.664 197799 chr6 7576670 7576670 G A rs139799237 DSP Nonsynonymous SNV R925Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 197800 chr6 10410194 10410194 G A rs369051842 TFAP2A Synonymous SNV L134L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.781 197801 chr19 57642539 57642539 C T rs749381433 USP29 Synonymous SNV I832I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.9 197802 chr15 73415123 73415123 G A rs369381005 NEO1 Nonsynonymous SNV E236K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 197803 chr17 18181553 18181553 C G rs767721350 TOP3A Nonsynonymous SNV G660R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.37 197804 chr6 16328215 16328215 C T rs114230242 ATXN1 Nonsynonymous SNV A100T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.117 197805 chr12 113602068 113602068 G A DDX54 Nonsynonymous SNV S581F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 197806 chr6 17826151 17826151 T C rs111458322 KIF13A Nonsynonymous SNV K545R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 15.85 197807 chr19 38189241 38189241 A C ZNF607 Synonymous SNV T596T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 197808 chr19 54544231 54544231 G C rs146430350 VSTM1 Nonsynonymous SNV A112G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.48 197809 chr14 24040160 24040160 C G JPH4 Nonsynonymous SNV A594P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 197810 chr19 59074104 59074104 C G rs150590904 MZF1 Nonsynonymous SNV G514R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.67 197811 chr14 24652247 24652247 T A IPO4 Nonsynonymous SNV T786S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.054 197812 chr14 24702728 24702728 C T rs201546406 GMPR2 Nonsynonymous SNV T62I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.32 197813 chr17 27903301 27903301 C G rs144464404 GIT1 Synonymous SNV L516L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 197814 chr19 7447761 7447761 T C rs183357795 ARHGEF18 Nonsynonymous SNV V269A 0.003 0.005 0 0 3 2 0 0 0 1 0 0 27 197815 chr12 125603207 125603207 C G AACS Nonsynonymous SNV N339K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.3 197816 chr12 126068523 126068523 G A rs199976507 TMEM132B Nonsynonymous SNV D474N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 197817 chr18 33069339 33069339 G A rs982150488 INO80C Nonsynonymous SNV S56L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.99 197818 chr7 158622031 158622031 C G rs202009375 ESYT2 Nonsynonymous SNV G27R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.49 197819 chr19 8464784 8464784 C T RAB11B Synonymous SNV N26N 0.001 0.005 0 0 1 2 0 0 0 1 0 0 13.33 197820 chr18 44149426 44149426 G A rs199595156 LOXHD1 Synonymous SNV L741L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.275 197821 chr19 8550858 8550878 GAGCGCATGGGCCCTGCCATC - rs575586653 HNRNPM P385_G391del 0.001 0.005 0 0 1 2 0 0 0 1 0 0 197822 chr19 44284873 44284873 C T KCNN4 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 197823 chr6 38881715 38881715 T G rs772739287 DNAH8 Nonsynonymous SNV I3100R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.31 197824 chr12 13367610 13367610 C T rs766753340 EMP1 Synonymous SNV V153V 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 13.56 197825 chr8 6914102 6914102 G T rs142230452 DEFA5 Nonsynonymous SNV Q40K 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.049 197826 chr14 55890953 55890953 A G rs148782971 TBPL2 Synonymous SNV F325F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.184 197827 chr14 56645068 56645068 A G rs764702491 PELI2 Synonymous SNV L31L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.404 197828 chr6 42152585 42152585 C T rs373171101 GUCA1B Nonsynonymous SNV A191T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.931 197829 chr6 42179537 42179537 A C MRPS10 Nonsynonymous SNV L102R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 197830 chr16 11272220 11272220 G A rs201153031 CLEC16A Synonymous SNV K945K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 197831 chr14 60592491 60592491 A G rs145320435 PCNX4 Nonsynonymous SNV I839V 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.118 197832 chr6 43223494 43223494 A G rs370359466 TTBK1 Nonsynonymous SNV K254R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.47 197833 chr12 1996180 1996180 G A rs545533620 CACNA2D4 Synonymous SNV R279R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.03 197834 chr6 43642969 43642969 A G rs775235245 MRPS18A Nonsynonymous SNV V139A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.62 197835 chr6 44197782 44197782 T C SLC29A1 Synonymous SNV N177N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.937 197836 chr19 9057436 9057436 G A rs200869910 MUC16 Nonsynonymous SNV P10004S 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.084 197837 chr18 57103309 57103309 T C rs757595184 CCBE1 Nonsynonymous SNV E351G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 29 197838 chr8 17446983 17446983 G A rs369069249 PDGFRL Nonsynonymous SNV G21D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 16.51 197839 chr8 17447239 17447239 T C PDGFRL Synonymous SNV P106P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.825 197840 chr19 9069660 9069660 G A rs74872724 MUC16 Nonsynonymous SNV S5929F 0.001 0.005 0 0 1 2 0 0 0 1 0 0 3.758 197841 chr8 17830055 17830055 G A PCM1 Nonsynonymous SNV V1268I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.62 197842 chr19 45284164 45284164 G A rs201563104 CBLC Nonsynonymous SNV R119Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 33 197843 chr16 1894959 1894959 G A rs149488366 MEIOB Nonsynonymous SNV P262S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 197844 chr19 45377674 45377674 C T rs200558750 NECTIN2 Synonymous SNV F327F 0.004 0.003 0 0 5 1 0 0 0 0 0 0 16.49 197845 chr14 71576561 71576561 A C rs148644029 PCNX1 Nonsynonymous SNV H2201P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 197846 chr19 45411987 45411987 G A rs267606664 APOE Nonsynonymous SNV G145D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 no interpretation for the single variant 24.7 197847 chr6 47682173 47682173 G A rs376942274 ADGRF4 Nonsynonymous SNV D398N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.01 197848 chr14 74409160 74409160 G A FAM161B Nonsynonymous SNV A395V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.527 197849 chr14 74970735 74970735 G A rs562333691 LTBP2 Synonymous SNV F1492F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.75 197850 chr14 75321840 75321840 G A PROX2 Stop gain Q365X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 197851 chr6 52303141 52303141 A G rs772750016 EFHC1 Nonsynonymous SNV M109V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.074 197852 chr14 76156540 76156540 A C rs138271588 TTLL5 Nonsynonymous SNV Y126S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 197853 chr16 20856541 20856541 C T rs142000603 REXO5 Nonsynonymous SNV P670L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.551 197854 chr16 21049286 21049286 C T rs16970832 DNAH3 Nonsynonymous SNV V1537I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 197855 chr16 21086830 21086830 A G rs893164947 DNAH3 Synonymous SNV L962L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.756 197856 chr16 21133313 21133313 G A rs146775311 DNAH3 Nonsynonymous SNV R513C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 197857 chr16 21221443 21221443 A T rs145538948 ZP2 Nonsynonymous SNV H74Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.107 197858 chr19 4704230 4704230 G A rs575000255 DPP9 Synonymous SNV Y171Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.749 197859 chr16 21730775 21730775 G A OTOA Nonsynonymous SNV A262T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 197860 chr12 43847730 43847730 G A ADAMTS20 Synonymous SNV T580T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.66 197861 chr8 27987166 27987166 T C rs138758644 ELP3 Synonymous SNV A136A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.112 197862 chr8 28575254 28575254 G T rs756512091 EXTL3 Nonsynonymous SNV A560S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.05 197863 chr14 90755447 90755447 A C NRDE2 Nonsynonymous SNV S758A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 197864 chr8 29197684 29197684 C T rs772724709 DUSP4 Synonymous SNV P170P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 13.67 197865 chr8 30716260 30716260 A C TEX15 Nonsynonymous SNV F258L 0 0.008 0 0 0 3 0 0 0 0 0 0 11.51 197866 chr14 92047378 92047378 C T CATSPERB Nonsynonymous SNV G1069E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 197867 chr16 2848610 2848610 G A rs142522686 PRSS41 Nonsynonymous SNV R42H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.371 197868 chr16 30545552 30545552 C T rs372926259 ZNF747 Nonsynonymous SNV R150Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 197869 chr14 95054239 95054239 G A rs146244413 SERPINA5 Synonymous SNV T180T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.949 197870 chr8 43025815 43025815 C T rs564435701 HGSNAT Nonsynonymous SNV R241C 0 0.01 0 0 0 4 0 0 0 0 0 0 33 197871 chr6 89808350 89808350 G C rs41273303 SRSF12 Nonsynonymous SNV H245D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 197872 chr8 56699467 56699467 A G rs752968715 TGS1 Nonsynonymous SNV D244G 0 0.01 0 0 0 4 0 0 0 0 0 0 7.133 197873 chr6 90577650 90577650 T G rs200433993 CASP8AP2 Synonymous SNV R1547R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 10.69 197874 chr15 102186954 102186954 G A rs144526936 TM2D3 Nonsynonymous SNV T133M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 197875 chr17 4648031 4648031 C T ZMYND15 Nonsynonymous SNV P560S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 197876 chr15 22963816 22963816 A G rs138734959 CYFIP1 Nonsynonymous SNV Y346C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 197877 chr15 25227037 25227037 G A rs569620145 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 6.455 197878 chr15 31218014 31218014 G A rs756429083 FAN1 Nonsynonymous SNV C787Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 197879 chr17 48244846 48244846 T G rs148132791 SGCA Nonsynonymous SNV V52G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.357 197880 chr6 110763838 110763838 G C rs188178792 SLC22A16 Synonymous SNV V264V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.14 197881 chr19 52249535 52249535 C T rs368075541 FPR1 Nonsynonymous SNV R238H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.1 197882 chr15 37265037 37265037 C G rs7162033 MIR8063 0 0 0.034 0 0 0 0 10 0 0 0 0 0.483 197883 chr15 37265039 37265039 G A rs7183051 MIR8063 0 0 0.034 0 0 0 0 10 0 0 0 0 2.78 197884 chr19 984463 984463 G A WDR18 Nonsynonymous SNV G37D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 197885 chr1 145560078 145560078 G A rs782062602 ANKRD35 Synonymous SNV S98S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.47 197886 chr16 4960877 4960877 C T rs375214835 PPL Nonsynonymous SNV V46M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 197887 chr6 117869537 117869537 A G DCBLD1 Nonsynonymous SNV S695G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.05 197888 chr16 52484428 52484428 G A rs573103587 TOX3 Nonsynonymous SNV R147W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 197889 chr19 16008345 16008345 C T rs777597441 CYP4F2 Nonsynonymous SNV G26E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 197890 chr12 5744495 5744495 T C rs200078432 ANO2 Nonsynonymous SNV I547V 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 9.408 197891 chr19 54515314 54515314 C T CACNG6 Synonymous SNV S147S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 197892 chr15 42162754 42162754 C G SPTBN5 Nonsynonymous SNV A1818P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 197893 chr16 58076225 58076225 A G rs139643453 MMP15 Nonsynonymous SNV I419V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.61 197894 chr6 138734190 138734190 A C rs761019557 HEBP2 Nonsynonymous SNV N209T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.41 197895 chr6 138745557 138745557 G C rs75518295 NHSL1 Synonymous SNV G1498G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.437 197896 chr6 138753328 138753328 G C NHSL1 Nonsynonymous SNV S722R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 197897 chr1 15438836 15438839 TGTG - TMEM51-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 197898 chr6 143823162 143823162 C T rs778181384 FUCA2 Nonsynonymous SNV R354K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.47 197899 chr6 148841280 148841280 T A SASH1 Nonsynonymous SNV V248E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.96 197900 chr6 148865365 148865365 G A rs145411864 SASH1 Nonsynonymous SNV R681H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.11 197901 chr16 68309058 68309058 C T rs140250756 SLC7A6 Synonymous SNV I143I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 197902 chr16 69726013 69726013 C T rs750941750 NFAT5 Nonsynonymous SNV S537L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 197903 chr6 151281435 151281435 A G MTHFD1L Nonsynonymous SNV S611G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 197904 chr12 6702696 6702696 G A rs370190894 CHD4 Synonymous SNV D793D 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 9.632 197905 chr1 1141776 1141776 C T rs141996135 TNFRSF18 Nonsynonymous SNV R59H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 17.57 197906 chr12 6860818 6860818 T C MLF2 Nonsynonymous SNV M69V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 22.8 197907 chr12 6981991 6981991 A G rs61733175 SPSB2 Synonymous SNV C25C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 6.974 197908 chr12 6982162 6982162 C T rs11064437 SPSB2 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 6.538 197909 chr6 152730781 152730781 T C SYNE1 Synonymous SNV V2105V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.334 197910 chr19 56104916 56104916 G C FIZ1 Nonsynonymous SNV R131G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 197911 chr15 63414206 63414206 C A LACTB Nonsynonymous SNV L46M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 197912 chr17 7129395 7129395 T C rs1014431897 DVL2 Nonsynonymous SNV Y667C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 197913 chr15 65628161 65628161 C T rs149026166 IGDCC3 Synonymous SNV T181T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.36 197914 chr16 77232159 77232159 C G rs144875018 MON1B Nonsynonymous SNV T387S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 197915 chr21 31803053 31803053 C T rs763087978 KRTAP13-4 Nonsynonymous SNV R154C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 197916 chr15 66857679 66857679 G T LCTL Nonsynonymous SNV L9I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 197917 chr19 19822401 19822401 T G ZNF14 Nonsynonymous SNV Q563H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 197918 chr19 19822407 19822407 A G ZNF14 Synonymous SNV C561C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.599 197919 chr19 19822412 19822412 G C ZNF14 Nonsynonymous SNV Q560E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 197920 chr19 19822416 19822416 C A rs374958382 ZNF14 Synonymous SNV P558P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 197921 chr19 19822436 19822436 T A ZNF14 Nonsynonymous SNV T552S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 197922 chr15 68582761 68582761 G A rs375949403 FEM1B Synonymous SNV A355A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.407 197923 chr21 33038772 33038772 T C rs373888553 SOD1 Synonymous SNV S60S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.06 197924 chr6 165832131 165832131 T C rs142222153 PDE10A Synonymous SNV K330K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.576 197925 chr15 74560746 74560746 C G CCDC33 Nonsynonymous SNV R165G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 197926 chr6 169628335 169628335 A G THBS2 Synonymous SNV Y767Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.378 197927 chr19 58596629 58596629 G A rs775002157 ZSCAN18 Nonsynonymous SNV S183L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.867 197928 chr1 147381202 147381202 - C rs782786257 GJA8 Frameshift insertion G376Rfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 197929 chr17 74077680 74077680 G A ZACN Nonsynonymous SNV E242K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 197930 chr7 4002293 4002293 C G SDK1 Synonymous SNV V413V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.77 197931 chr19 6040095 6040095 C T rs771562752 RFX2 Nonsynonymous SNV G140R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 197932 chr7 4900991 4900991 C G rs17853680 PAPOLB Nonsynonymous SNV E151Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.8 197933 chr19 6230614 6230614 C T rs760101990 MLLT1 Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 197934 chr17 74732925 74732925 T G rs769026966 SRSF2 Synonymous SNV P106P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.602 197935 chr15 84582090 84582090 G A rs749709332 ADAMTSL3 Synonymous SNV E649E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 197936 chr16 87677988 87677988 C T rs35224773 JPH3 Synonymous SNV S169S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.6 197937 chr7 6634211 6634211 C T rs35427124 C7orf26 Nonsynonymous SNV A168V 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 22.7 197938 chr19 7083294 7083294 A G rs372107983 ZNF557 Nonsynonymous SNV I278V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 197939 chr16 88780828 88780828 C G rs977634147 CTU2 Nonsynonymous SNV P292A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 197940 chr7 13971214 13971214 T C rs761207813 ETV1 Nonsynonymous SNV N181D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.25 197941 chr19 7977040 7977040 T C MAP2K7 Synonymous SNV T369T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.044 197942 chr13 110862526 110862526 C T rs144171664 COL4A1 Nonsynonymous SNV G168R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 197943 chr17 77926531 77926531 A G TBC1D16 Nonsynonymous SNV V289A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.804 197944 chr7 18067119 18067119 C T rs555412681 PRPS1L1 Nonsynonymous SNV R96Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 197945 chr7 18806774 18806774 T G rs372604711 HDAC9 Nonsynonymous SNV L693R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 197946 chr9 32633036 32633036 C T rs141368669 TAF1L Nonsynonymous SNV D848N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 197947 chr9 34256934 34256934 T A rs148278926 KIF24 Nonsynonymous SNV S891C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 197948 chr16 89603234 89603234 C T rs142422865 SPG7 Synonymous SNV P462P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.43 197949 chr7 23000919 23000919 C G rs142984808 FAM126A Nonsynonymous SNV A256P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 27.6 197950 chr16 89986589 89986589 C T rs375127718 MC1R Nonsynonymous SNV T308M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 27.5 197951 chr1 177921118 177921118 C T rs747682859 CRYZL2P-SEC16B, SEC16B Synonymous SNV T151T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.86 197952 chr13 22141019 22141019 T C rs751381933 MICU2 Nonsynonymous SNV Q92R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.33 197953 chr15 95399496 95399496 T G rs371745997 LOC440311 0 0 0.02 0 0 0 0 6 0 0 0 0 5.826 197954 chr7 27194972 27194972 C - HOXA-AS3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197955 chr17 12903489 12903489 G A rs143878748 ELAC2 Synonymous SNV D429D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.51 197956 chr7 31592728 31592728 G A rs771087429 ITPRID1 Synonymous SNV A30A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.632 197957 chr13 28539069 28539069 G A rs149977259 CDX2 Nonsynonymous SNV R209C 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 34 197958 chr16 1265315 1265315 G A rs148651456 CACNA1H Nonsynonymous SNV A1699T 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 Benign/Likely benign 26.8 197959 chr13 31543068 31543068 G T rs9533168 TEX26 Nonsynonymous SNV K100N 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Benign 24.6 197960 chr16 1270127 1270127 C T rs375589233 CACNA1H Synonymous SNV A2059A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.298 197961 chr1 183546802 183546802 G C rs119103276 NCF2 Nonsynonymous SNV Q100E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.56 197962 chr16 1537436 1537436 G A PTX4 Nonsynonymous SNV S221F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 197963 chr17 8424503 8424503 T C rs111317210 MYH10 Synonymous SNV Q655Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.148 197964 chr16 15802685 15802685 G T rs765457680 MYH11 Nonsynonymous SNV Q1934K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.4 197965 chr7 44180644 44180644 C A rs147701378 MYL7 Nonsynonymous SNV K11N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 197966 chr1 160253395 160253395 G A PEX19 Synonymous SNV S35S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.816 197967 chr1 160264580 160264580 A G rs144925259 COPA Synonymous SNV D857D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.932 197968 chr16 16248769 16248769 C G rs139128550 ABCC6 Synonymous SNV G1334G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 12.82 197969 chr7 47970836 47970836 G A rs373244254 PKD1L1 Nonsynonymous SNV A201V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.025 197970 chr9 99580969 99580970 CT - rs767445475 ZNF782 K424Tfs*6 0.001 0.008 0 0 1 3 0 0 0 0 0 0 197971 chr1 196876446 196876446 A G rs115298512 CFHR4 Nonsynonymous SNV N206S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.842 197972 chr18 18562767 18562767 A G rs760406185 ROCK1 Nonsynonymous SNV M839T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.7 197973 chr18 19751956 19751956 C G rs185325359 GATA6 Nonsynonymous SNV A284G 0.002 0.003 0.003 0 2 1 0 1 1 0 0 0 Benign/Likely benign 0.014 197974 chr7 50435813 50435813 A G rs773787303 IKZF1 Synonymous SNV L90L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.251 197975 chr1 200587590 200587590 A G rs139388122 KIF14 Synonymous SNV L88L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 1.019 197976 chr13 51918515 51918515 G - SERPINE3 E129Sfs*61 0 0.003 0 2 0 1 0.005 0 0 0 0 0 197977 chr13 51918516 51918516 G T SERPINE3 Stop gain E129X 0 0.003 0 2 0 1 0.005 0 0 0 0 0 39 197978 chr13 51918518 51918518 - CCCAC SERPINE3 Frameshift insertion H130Pfs*62 0 0.003 0 2 0 1 0.005 0 0 0 0 0 197979 chr16 24802265 24802265 G A rs201054736 TNRC6A Nonsynonymous SNV D768N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 197980 chr1 167806542 167806542 T C ADCY10 Nonsynonymous SNV I855V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 197981 chr13 61989290 61989290 A G rs182750134 PCDH20 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 197982 chr13 73335560 73335560 C T DIS3 Nonsynonymous SNV G748R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 197983 chr18 32428312 32428312 T C DTNA Nonsynonymous SNV Y130H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 197984 chr17 26107885 26107885 C A NOS2 Synonymous SNV V304V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 197985 chr9 112899720 112899720 G A rs148669909 PALM2AKAP2 Synonymous SNV S490S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.053 197986 chr16 3086392 3086392 G T rs182839280 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 197987 chr16 30992414 30992414 C T rs147153440 SETD1A Synonymous SNV S1575S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 197988 chr1 173446586 173446586 A G rs200467157 PRDX6 Nonsynonymous SNV N17S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 197989 chr14 100803501 100803501 G A rs772322833 WARS1 Synonymous SNV I343I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.28 197990 chr17 30648078 30648078 G A rs372423346 RHBDL3 Nonsynonymous SNV V288M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 197991 chr9 119858335 119858335 G A rs759707469 ASTN2 Nonsynonymous SNV R371C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.5 197992 chr1 205819083 205819083 G A rs895836855 PM20D1 Nonsynonymous SNV P40S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.05 197993 chr19 46283586 46283586 G A rs199935282 DMPK Nonsynonymous SNV S78F 0.003 0 0 0 3 0 0 0 0 0 0 0 9.702 197994 chr1 11826228 11826228 G A rs750386014 C1orf167 Nonsynonymous SNV E129K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.731 197995 chr14 105615152 105615152 T C rs587757658 JAG2 Synonymous SNV T612T 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 0.223 197996 chr7 99752748 99752749 AG - MAP11 P274Rfs*95 0.001 0.003 0 0 1 1 0 0 0 0 0 0 197997 chr1 118539079 118539079 C T rs138035488 SPAG17 Nonsynonymous SNV R1656Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 197998 chr1 12059092 12059092 C T rs137960129 MFN2 Synonymous SNV N252N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.61 197999 chr1 214638113 214638113 G A rs770580886 PTPN14 Nonsynonymous SNV R12C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 198000 chr17 38252799 38252799 T C rs184751560 NR1D1 Synonymous SNV K167K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.375 198001 chr17 38449846 38449846 T C rs200407669 CDC6 Synonymous SNV L267L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.139 198002 chr1 12322005 12322005 A G VPS13D Nonsynonymous SNV T488A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 198003 chr1 1902141 1902141 G A rs769521048 CFAP74 Nonsynonymous SNV L335F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.661 198004 chr18 6985322 6985322 G A rs760776753 LAMA1 Synonymous SNV H1858H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.709 198005 chr1 197102623 197102623 C T rs375901171 ASPM Nonsynonymous SNV R759Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 198006 chr9 132640696 132640696 C T rs377374790 USP20 Nonsynonymous SNV A830V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 27.6 198007 chr17 39280296 39280296 G C rs751810631 KRTAP4-12 Nonsynonymous SNV Q27E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 198008 chr17 39280297 39280297 G A rs757737856 KRTAP4-12 Synonymous SNV C26C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.132 198009 chr16 69143303 69143303 C T rs763308554 HAS3 Nonsynonymous SNV P2L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 198010 chr1 201252900 201252900 G T PKP1 Nonsynonymous SNV A24S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 198011 chr16 69482024 69482024 C G rs372677944 CYB5B Nonsynonymous SNV L104V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 198012 chr1 152185652 152185652 T C HRNR Nonsynonymous SNV N2818S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 198013 chr1 203188380 203188408 CCACTGGTTGTCCCGGAAGATGTAGGGCA - rs536102546 CHIT1 V303Gfs*4 0.002 0.005 0 0 2 2 0 0 0 0 0 0 198014 chr1 154184844 154184844 T C C1orf43 Nonsynonymous SNV Q121R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 198015 chr17 40836183 40836183 A G CNTNAP1 Nonsynonymous SNV Y100C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 198016 chr16 74524943 74524943 C A GLG1 Nonsynonymous SNV V458F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 198017 chr16 75589899 75589899 G C rs375353411 TMEM231 Nonsynonymous SNV R91G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.007 198018 chr14 36988615 36988615 G C NKX2-1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 198019 chr7 102040094 102040094 A G rs74448791 PRKRIP1 Nonsynonymous SNV K102R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 198020 chr1 22964176 22964176 G A rs17887074 C1QA Nonsynonymous SNV E23K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.09 198021 chr1 208225704 208225704 G T rs777465361 PLXNA2 Synonymous SNV V987V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.691 198022 chr16 82660730 82660730 T C CDH13 Nonsynonymous SNV F23S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 198023 chr16 83999255 83999255 C T OSGIN1 Synonymous SNV R359R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 198024 chr16 84214673 84214673 - G rs749363736 TAF1C Frameshift insertion T123Yfs*98 0 0 0.003 0 0 0 0 1 0 0 0 0 198025 chr17 47921514 47921514 G A rs370585916 TAC4 Synonymous SNV G37G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.093 198026 chr19 14862295 14862295 C T ADGRE2 Synonymous SNV V601V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.34 198027 chr17 48445597 48445597 C T rs200916450 MRPL27 Synonymous SNV K101K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 198028 chr17 48604704 48604704 C T rs148593348 MYCBPAP Synonymous SNV N757N 0.003 0.008 0.007 6 3 3 0.015 2 0 0 0 0 10.62 198029 chr17 50235142 50235142 T C rs11655970 CA10 Nonsynonymous SNV E2G 0.002 0 0 0 2 0 0 0 1 0 0 0 19.18 198030 chr16 88502260 88502260 G A rs745918304 ZNF469 Synonymous SNV T2794T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.98 198031 chr7 138424300 138424300 C T rs74921348 ATP6V0A4 Synonymous SNV P519P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 16.9 198032 chr17 55183477 55183477 G A rs73991770 AKAP1 Nonsynonymous SNV A218T 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 11.17 198033 chr17 55183989 55183989 C T rs73991771 AKAP1 Synonymous SNV S388S 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 7.191 198034 chr17 55184250 55184250 G A rs73991772 AKAP1 Synonymous SNV P475P 0.005 0.005 0.01 2 6 2 0.005 3 0 0 0 0 Benign 7.218 198035 chr1 24201779 24201779 A G rs139756160 CNR2 Nonsynonymous SNV I110T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 25.3 198036 chr16 88788795 88788795 C T rs778964539 PIEZO1 Nonsynonymous SNV A1596T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 198037 chr1 161976172 161976172 T C rs34095099 OLFML2B Nonsynonymous SNV N213S 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 17.31 198038 chr7 138944058 138944058 C T rs759993602 UBN2 Nonsynonymous SNV R283W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 198039 chr19 54848846 54848846 C T rs147736844 LILRA4 Synonymous SNV G259G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 8.676 198040 chr19 16799058 16799060 ACG - rs538628487 TMEM38A D260del 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 198041 chr19 55176274 55176274 C T rs780050224 LILRB4 Nonsynonymous SNV S256L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.7 198042 chr19 16923616 16923616 G T rs111676200 NWD1 Nonsynonymous SNV V1244L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.355 198043 chr16 89167208 89167208 C T rs747598756 ACSF3 Nonsynonymous SNV S40L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 198044 chr17 61570836 61570836 G A rs3730044 ACE Synonymous SNV V410V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.66 198045 chr1 247007232 247007232 T A rs148600466 AHCTF1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 198046 chr16 89351703 89351703 G A rs773132293 ANKRD11 Nonsynonymous SNV A416V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 198047 chr19 17351489 17351489 T G rs201658217 NR2F6 Synonymous SNV R122R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.867 198048 chr19 55568153 55568153 G A rs767005997 RDH13 Stop gain R70X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 198049 chr1 169847872 169847872 A C rs139928689 SCYL3 Nonsynonymous SNV V85G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 198050 chr2 160636686 160636686 G A rs749138371 CD302, LY75-CD302 Nonsynonymous SNV A63V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 198051 chr17 10558231 10558231 T G rs779493094 MYH3 Nonsynonymous SNV K51Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 198052 chr10 21106569 21106569 T C rs907637021 NEBL Nonsynonymous SNV E703G 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 23.6 198053 chr17 15881406 15881406 C T rs78445185 ZSWIM7 Synonymous SNV K126K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 198054 chr17 15961804 15961806 AAC - rs148818383 NCOR1 V1894del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 198055 chr7 150778855 150778855 T G rs113100233 TMUB1 Nonsynonymous SNV R174S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.81 198056 chr19 19031448 19031448 C T rs147735065 DDX49 Nonsynonymous SNV P59S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 198057 chr17 17919414 17919414 G A rs200381151 DRC3 Nonsynonymous SNV G455R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 29.1 198058 chr7 155255109 155255109 G A EN2 Synonymous SNV E243E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.819 198059 chr2 178081301 178081301 G T HNRNPA3 Nonsynonymous SNV Q186H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 198060 chr1 26694990 26694990 G A rs200572072 ZNF683 Synonymous SNV L25L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.812 198061 chr17 72537863 72537863 G A rs367749189 CD300C Synonymous SNV S180S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.83 198062 chr1 27875222 27875222 G A rs141366276 AHDC1 Synonymous SNV H1135H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.183 198063 chr8 2048685 2048685 G A rs35441835 MYOM2 Synonymous SNV T820T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.54 198064 chr1 185959460 185959460 G A rs767388853 HMCN1 Nonsynonymous SNV E1088K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 198065 chr17 7324240 7324240 C G SPEM1 Synonymous SNV P82P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.286 198066 chr1 246729298 246729298 G A rs148620105 TFB2M Nonsynonymous SNV S48F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.005 198067 chr17 73488815 73488815 C T rs117030777 TMEM94 Synonymous SNV S629S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.9 198068 chr1 1902225 1902225 G A rs140201417 CFAP74 Nonsynonymous SNV R307C 0.003 0 0 0 3 0 0 0 0 0 0 0 7.005 198069 chr1 1957121 1957121 G A rs77892827 GABRD Synonymous SNV T138T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign 2.216 198070 chr17 3194964 3194964 A G OR3A1 Nonsynonymous SNV W305R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 198071 chr17 3214502 3214502 G A rs8076130 OR3A4P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.151 198072 chr17 74392355 74392355 T C rs958539389 UBE2O Nonsynonymous SNV K888R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 198073 chr17 3301557 3301557 G A rs189246588 OR1E1 Stop gain R50X 0 0 0.007 0 0 0 0 2 0 0 0 0 31 198074 chr17 3336401 3336410 CTTGCAGATA - rs138426740 OR1E2 I243Pfs*33 0.001 0 0.007 0 1 0 0 2 0 0 0 0 198075 chr17 3336679 3336679 C G rs149179638 OR1E2 Nonsynonymous SNV V153L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.519 198076 chr17 3336682 3336682 A C rs116098869 OR1E2 Nonsynonymous SNV S152A 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 1.112 198077 chr8 17541880 17541880 T G rs201847623 MTUS1 Nonsynonymous SNV K98T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.3 198078 chr19 36214389 36214389 C A KMT2B Synonymous SNV R1015R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.83 198079 chr19 36257675 36257675 C T PROSER3 Nonsynonymous SNV P259L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.56 198080 chr19 36278771 36278771 C T rs750159033 ARHGAP33 Nonsynonymous SNV R938C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 198081 chr8 21892053 21892053 A G rs117230258 NPM2 Nonsynonymous SNV K133E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.009 198082 chr8 21984659 21984659 C T rs750319756 HR Synonymous SNV P432P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.935 198083 chr1 43903483 43903483 A G rs778529188 SZT2 Nonsynonymous SNV M2083V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.065 198084 chr8 21986269 21986269 G A rs148782064 HR Nonsynonymous SNV R139W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 29.7 198085 chr19 36831554 36831554 G A rs766296495 ZFP14 Nonsynonymous SNV R393C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 198086 chr1 203149727 203149727 C A CHI3L1 Synonymous SNV V255V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 198087 chr17 37883992 37883992 G T rs751372943 ERBB2 Nonsynonymous SNV G1155C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 198088 chr1 45797737 45797737 C A MUTYH Nonsynonymous SNV A176S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.615 198089 chr15 41192608 41192608 G A rs767166773 VPS18 Nonsynonymous SNV R531H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 198090 chr15 41193131 41193131 C T rs370550289 VPS18 Synonymous SNV A705A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.783 198091 chr17 78306398 78306398 T G rs955363772 RNF213 Synonymous SNV G1370G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.972 198092 chr1 47101564 47101564 C G ATPAF1 Nonsynonymous SNV V246L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 198093 chr1 26663842 26663842 G A rs145909949 CRYBG2 Nonsynonymous SNV R1225W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 198094 chr8 27528622 27528622 G A rs748117382 SCARA3 Synonymous SNV K525K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.14 198095 chr1 53925521 53925521 G C rs766012390 DMRTB1 Nonsynonymous SNV R132T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.275 198096 chr17 39346328 39346328 A G rs189935802 KRTAP9-1 Nonsynonymous SNV T64A 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 3.965 198097 chr1 55050457 55050457 C T rs200124241 ACOT11 Nonsynonymous SNV P55S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 198098 chr19 39998490 39998490 G A rs765968413 DLL3 Nonsynonymous SNV R565H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.443 198099 chr1 2116872 2116872 C T rs368374350 FAAP20 Nonsynonymous SNV G139S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.063 198100 chr19 41928130 41928130 C T rs146932786 BCKDHA Synonymous SNV F236F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.26 198101 chr17 41245589 41245589 T C rs767530204 BRCA1 Synonymous SNV K606K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 198102 chr1 103352521 103352521 T C rs756511227 COL11A1 Nonsynonymous SNV D1451G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 198103 chr1 21605702 21605702 C T rs771296480 ECE1 Nonsynonymous SNV G76S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 23.1 198104 chr19 41949978 41949978 C T rs150607510 ERICH4 Nonsynonymous SNV A81V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 25.1 198105 chr1 216221913 216221913 C G rs768651513 USH2A Nonsynonymous SNV E2042D 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 198106 chr1 38059368 38059368 C T rs376491538 GNL2 Synonymous SNV E48E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 198107 chr19 42596399 42596399 C G POU2F2 Nonsynonymous SNV G408R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 198108 chr1 63067484 63067484 A G rs200949988 ANGPTL3 Nonsynonymous SNV T256A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.002 198109 chr17 42400889 42400889 T C rs149479473 SLC25A39 Synonymous SNV Q14Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.017 198110 chr19 43991203 43991203 G A rs200551584 PHLDB3 Nonsynonymous SNV P408S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.366 198111 chr19 44096495 44096495 C T rs754397160 IRGQ Nonsynonymous SNV G519S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 198112 chr19 44116494 44116494 C T rs763566500 SRRM5 Nonsynonymous SNV P74L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 198113 chr8 82667660 82667660 G A rs528902989 CHMP4C Nonsynonymous SNV A142T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 198114 chr17 43332855 43332855 G T rs772027527 SPATA32 Nonsynonymous SNV L232I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 198115 chr1 22157538 22157538 C T HSPG2 Nonsynonymous SNV V3871I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.494 198116 chr1 22161380 22161380 G A rs55875654 HSPG2 Synonymous SNV H3505H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.265 198117 chr17 4448590 4448590 C T rs9911631 MYBBP1A Synonymous SNV T708T 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 12.5 198118 chr18 21531691 21531691 C T rs966790484 LAMA3 Nonsynonymous SNV S1564L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 198119 chr8 88885390 88885390 A C DCAF4L2 Nonsynonymous SNV D270E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 198120 chr18 21819263 21819263 A T rs376832322 OSBPL1A Nonsynonymous SNV H73Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 198121 chr19 44418991 44418991 A G rs200712094 ZNF45 Synonymous SNV N199N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.462 198122 chr1 42925423 42925423 G C rs146107417 PPCS Synonymous SNV V81V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.223 198123 chr18 28914021 28914021 G T rs150445875 DSG1 Nonsynonymous SNV L287F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.8 198124 chr1 43870113 43870113 C T rs187131803 SZT2 Synonymous SNV G130G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.67 198125 chr18 28983441 28983441 T C rs150676638 DSG4 Nonsynonymous SNV C494R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 198126 chr17 4711578 4711578 T C PLD2 Nonsynonymous SNV C84R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 198127 chr15 65623917 65623917 T C IGDCC3 Nonsynonymous SNV Q410R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 198128 chr1 45469215 45469215 C T rs188567783 HECTD3 Synonymous SNV A845A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.12 198129 chr17 48263208 48263208 G A rs1800219 COL1A1 Synonymous SNV S1393S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign/Likely benign 8.508 198130 chr17 48264448 48264448 A G rs1800218 COL1A1 Synonymous SNV D1153D 0.003 0 0.01 2 3 0 0.005 3 0 0 0 0 Benign 8.082 198131 chr1 85031576 85031576 G T rs114528495 CTBS Synonymous SNV I215I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 14.68 198132 chr1 49005362 49005362 C T rs956099366 AGBL4 Nonsynonymous SNV R451Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22 198133 chr17 54671835 54671835 C A rs138481449 NOG Nonsynonymous SNV P84H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.7 198134 chr15 74426808 74426808 G A rs765372320 ISLR2 Synonymous SNV A571A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.91 198135 chr15 74427012 74427013 GC - ISLR2 R640Hfs*38 0 0 0 2 0 0 0.005 0 0 0 0 0 198136 chr18 43460091 43460091 G A rs141282194 EPG5 Synonymous SNV T1872T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 7.601 198137 chr15 75499634 75499634 G A rs780068598 C15orf39 Synonymous SNV R415R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.59 198138 chr10 120921857 120921857 G C rs202237674 SFXN4 Nonsynonymous SNV Q83E 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.002 198139 chr1 236157150 236157150 C G rs147665041 NID1 Nonsynonymous SNV Q850H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.1 198140 chr17 61473112 61473112 T G TANC2 Nonsynonymous SNV H946Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 198141 chr18 55226380 55226380 C T rs118204037 FECH Nonsynonymous SNV M267I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 28.7 198142 chr10 124712522 124712522 T G rs200829287 C10orf88 Nonsynonymous SNV N64T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.383 198143 chr1 9323878 9323878 T C rs746274075 H6PD Synonymous SNV P453P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 198144 chr1 236766562 236766562 A G HEATR1 Nonsynonymous SNV V86A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 198145 chr17 64212945 64212945 T C rs778455468 APOH Nonsynonymous SNV T249A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.35 198146 chr1 6272364 6272364 C T rs202068513 RNF207 Nonsynonymous SNV S457L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 198147 chr19 49206625 49206625 C A FUT2 Nonsynonymous SNV R138S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.15 198148 chr17 71166534 71166534 C T rs745801336 SSTR2 Nonsynonymous SNV T359I 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 198149 chr15 86813149 86813149 G A AGBL1 0 0 0 1 0 0 0.003 0 0 0 0 0 24 198150 chr20 18424032 18424032 G C rs41276434 DZANK1 Nonsynonymous SNV P63A 0.006 0.003 0.01 0 7 1 0 3 0 0 0 0 17.02 198151 chr18 72593032 72593032 C T rs34940122 ZNF407 Synonymous SNV G1695G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.98 198152 chr1 74946173 74946173 G A rs61729317 LRRC53 Stop gain R190X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 198153 chr19 50001026 50001026 C G rs1046775380 SNORD35B 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.667 198154 chr8 145171155 145171155 T C WDR97 Nonsynonymous SNV Y1610H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 198155 chr17 74075984 74075984 C T rs113860382 ZACN Nonsynonymous SNV R95C 0.003 0.01 0.003 1 3 4 0.003 1 0 0 0 0 26.5 198156 chr17 7411692 7411692 G T rs117598105 POLR2A Synonymous SNV V1121V 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 10.27 198157 chr1 86959874 86959874 G A rs200175831 CLCA1 Nonsynonymous SNV G562D 0.001 0 0 0 1 0 0 0 0 0 0 0 29 198158 chr20 33342553 33342553 C T rs776155325 NCOA6 Synonymous SNV L549L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.22 198159 chr1 2575733 2575733 C G rs72849544 TTC34 Synonymous SNV L894L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.257 198160 chr9 4286207 4286207 G A rs764619575 GLIS3 Synonymous SNV N73N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.632 198161 chr1 2702442 2702442 G A rs61745554 TTC34 Synonymous SNV D667D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.073 198162 chr1 2704055 2704055 G A rs61735662 TTC34 Synonymous SNV D615D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.102 198163 chr9 6256098 6256098 C T IL33 Nonsynonymous SNV A122V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 198164 chr19 11352862 11352862 G T rs763666283 DOCK6 Nonsynonymous SNV S501Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 198165 chr19 11485521 11485521 A C rs368267656 SWSAP1 Nonsynonymous SNV Q55H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 198166 chr17 77015548 77015548 C T rs73411194 C1QTNF1-AS1 0 0 0.027 0 0 0 0 8 0 0 0 0 2.906 198167 chr9 18706971 18706971 G C rs141709175 ADAMTSL1 Nonsynonymous SNV G601R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.41 198168 chr20 43048386 43048386 C T rs150078978 HNF4A Synonymous SNV H254H 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Benign/Likely benign 12.68 198169 chr17 78166307 78166307 G A rs775186391 CARD14 Synonymous SNV K178K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.683 198170 chr1 978974 978974 G A rs79016973 AGRN Nonsynonymous SNV V554M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 25.8 198171 chr1 981942 981942 C A rs3813188 AGRN Nonsynonymous SNV T1026N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 13.42 198172 chr1 161090378 161090378 T C rs775294207 NIT1 Synonymous SNV Y254Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 198173 chr17 79092226 79092226 G A rs186291281 AATK Synonymous SNV A1264A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.353 198174 chr20 46318929 46318929 G A rs201176227 SULF2 Synonymous SNV H226H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.289 198175 chr11 1087961 1087961 A G rs201160184 MUC2 Nonsynonymous SNV R1146G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.91 198176 chr17 79941477 79941477 A G rs368146790 ASPSCR1 Nonsynonymous SNV N69S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.59 198177 chr9 73218329 73218329 G A rs372170254 TRPM3 Nonsynonymous SNV R887C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 198178 chr1 40209586 40209586 A C rs200484350 PPIE Nonsynonymous SNV E125A 0.001 0 0 0 1 0 0 0 0 0 0 0 21 198179 chr17 80121075 80121075 C A CCDC57 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 198180 chr17 80398965 80398965 A G rs201760954 HEXD Nonsynonymous SNV S359G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.334 198181 chr1 42629092 42629092 C A rs147564899 GUCA2A Stop gain E89X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 35 198182 chr20 2377181 2377181 G A TGM6 Nonsynonymous SNV E152K 0.001 0 0 0 1 0 0 0 0 0 0 0 30 198183 chr11 2924640 2924640 G A rs146413382 SLC22A18 Nonsynonymous SNV R107Q 0.003 0.008 0.007 3 4 3 0.008 2 0 0 0 0 Benign 13.34 198184 chr19 17396515 17396515 G A rs745821293 ANKLE1 Nonsynonymous SNV R484H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 198185 chr17 9808184 9808184 G A rs368968677 RCVRN Nonsynonymous SNV A105V 0 0 0.007 0 0 0 0 2 0 0 0 0 32 198186 chr19 17612201 17612201 C T rs766035538 SLC27A1 Nonsynonymous SNV R586C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 198187 chr9 96061528 96061528 G C rs149243272 WNK2 Nonsynonymous SNV G2034R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 198188 chr19 58945398 58945398 G A rs146663915 ZNF132 Synonymous SNV S471S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.58 198189 chr19 59060556 59060556 G A rs142762100 TRIM28 Synonymous SNV A537A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.222 198190 chr16 4744206 4744206 C A rs368112713 NUDT16L1 Synonymous SNV I127I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 1 17.13 198191 chr20 37394988 37394988 G A rs151070334 ACTR5 Synonymous SNV G467G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 198192 chr19 6216471 6216471 C T rs769887699 MLLT1 Nonsynonymous SNV D418N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 198193 chr20 42680176 42680176 G T rs141549161 TOX2 Synonymous SNV V172V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.204 198194 chr20 62329748 62329748 A C rs759098640 TNFRSF6B Synonymous SNV T245T 0.005 0 0 1 6 0 0.003 0 1 0 0 0 0.002 198195 chr20 62329974 62329974 - T rs201921730 RTEL1-TNFRSF6B 0.002 0 0.003 0 2 0 0 1 0 0 0 0 198196 chr18 47788522 47788522 T G CFAP53 Nonsynonymous SNV K46T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 198197 chr20 44038793 44038793 G C SYS1-DBNDD2 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 198198 chr20 44526742 44526742 G A rs25649 CTSA Synonymous SNV T452T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.5 198199 chr1 62907920 62907920 A C USP1 Nonsynonymous SNV I116L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 198200 chr1 19464551 19464551 G A rs138959365 UBR4 Synonymous SNV S2952S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.54 198201 chr11 7693705 7693705 T - CYB5R2 D43Afs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 198202 chr1 84417879 84417879 G C rs149508045 TTLL7 Nonsynonymous SNV Q6E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 198203 chr19 36727483 36727483 C T rs747524610 ZNF146 Synonymous SNV N47N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 198204 chr1 86934779 86934779 A G rs373512851 CLCA1 Nonsynonymous SNV N42S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 198205 chr16 72831357 72831357 - TTGTTGTTGTTGTTGTTG ZFHX3 Q827_A828insQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 198206 chr9 129376786 129376786 G A rs758741262 LMX1B Nonsynonymous SNV D20N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.6 198207 chr9 130492924 130492924 C A rs776317475 TTC16 Nonsynonymous SNV T608K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 198208 chr9 130587621 130587621 C T rs755116051 ENG Synonymous SNV T235T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.31 198209 chr9 130829071 130829071 C T rs140833786 NAIF1 Nonsynonymous SNV A104T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.19 198210 chr19 11892194 11892194 C T ZNF441 Stop gain R519X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 198211 chr19 40360969 40360969 A C FCGBP Nonsynonymous SNV C5147G 0.001 0 0 0 1 0 0 0 0 0 0 0 28 198212 chr21 15858339 15858339 C G rs752230607 SAMSN1 Nonsynonymous SNV G339A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 198213 chr11 36615066 36615066 A T RAG2 Nonsynonymous SNV I218N 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 24.3 198214 chr9 134518692 134518692 C G RAPGEF1 Nonsynonymous SNV G143A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 198215 chr11 45268059 45268059 G T rs762541247 SYT13 Nonsynonymous SNV P284Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.27 198216 chr22 21988559 21988559 G A rs760254409 CCDC116 Synonymous SNV P107P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.624 198217 chr1 114226314 114226314 C G MAGI3 Nonsynonymous SNV T1375R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.605 198218 chr9 137622153 137622153 C T rs144763302 COL5A1 Synonymous SNV D332D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 12.36 198219 chr22 23503096 23503096 T C rs147491386 RAB36 Nonsynonymous SNV V283A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 198220 chr9 137711861 137711861 C T rs80224569 LOC101448202 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.417 198221 chr9 137711918 137711918 C T rs112700360 LOC101448202 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Likely benign 1.989 198222 chr9 137779251 137779251 G A rs76267164 FCN2 Nonsynonymous SNV R273Q 0.009 0.008 0.003 1 11 3 0.003 1 0 0 0 0 29.7 198223 chr22 24124471 24124471 C A rs28382569 MMP11 Synonymous SNV T378T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 15.19 198224 chr19 17113104 17113104 C T rs202230331 CPAMD8 Nonsynonymous SNV A244T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 198225 chr19 17267812 17267812 A T rs369040457 MYO9B Synonymous SNV P431P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.201 198226 chr22 24236864 24236864 G A rs36070976 MIF-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 4.305 198227 chr20 20021335 20021335 C G rs139899512 CRNKL1 Nonsynonymous SNV A434P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 198228 chr9 139302322 139302322 G A rs763151267 ENTR1 Nonsynonymous SNV L47F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.66 198229 chr19 17439400 17439400 C G rs113297737 ANO8 Nonsynonymous SNV E599D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.107 198230 chr9 139618124 139618124 G A rs774747603 DIPK1B Synonymous SNV T398T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.08 198231 chr22 29454986 29454986 T C rs146939582 C22orf31 Nonsynonymous SNV H206R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 198232 chr1 11855288 11855288 C T rs1052666226 MTHFR Nonsynonymous SNV E341K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 198233 chr19 18246593 18246593 C T rs114008773 MAST3 Synonymous SNV D609D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.73 198234 chr19 18286008 18286008 G C rs200372 IFI30 Synonymous SNV T97T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.534 198235 chr19 18304750 18304750 T C rs968727 MPV17L2 Synonymous SNV P88P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.067 198236 chr9 140007688 140007688 G A rs148933573 DPP7 Stop gain R225X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 198237 chr19 18375990 18375990 C T rs138659815 IQCN Nonsynonymous SNV R787H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.384 198238 chr17 10296202 10296202 G A rs912294602 MYH8 Synonymous SNV A1803A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.58 198239 chr22 31523449 31523449 A G rs746202602 INPP5J Nonsynonymous SNV D138G 0.003 0 0 0 3 0 0 0 0 0 0 0 29.1 198240 chr17 10350355 10350355 T A MYH4 Nonsynonymous SNV E1715V 0 0 0 2 0 0 0.005 0 0 0 0 0 25 198241 chr17 10401207 10401207 A G MYH1 Synonymous SNV D1403D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.306 198242 chr9 140127467 140127467 C T rs373109398 SLC34A3 Nonsynonymous SNV R154W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 26.2 198243 chr9 140139794 140139794 C T rs141502187 FAM166A Nonsynonymous SNV A163T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 198244 chr22 32100654 32100654 C T rs376269645 PRR14L Nonsynonymous SNV G1939S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 198245 chr22 32109305 32109305 T C rs112331962 PRR14L Nonsynonymous SNV H1507R 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.002 198246 chr1 14105361 14105361 G A rs776970580 PRDM2 Synonymous SNV T156T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.709 198247 chr1 233750273 233750273 G C KCNK1 0.001 0 0 0 1 0 0 0 0 0 0 0 23 198248 chr19 45855532 45855532 T G rs758758729 ERCC2 Nonsynonymous SNV T709P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.6 198249 chr19 45860617 45860617 G C ERCC2 Nonsynonymous SNV L464V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22 198250 chr19 19752649 19752649 G C rs769936046 GMIP Nonsynonymous SNV P70A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.588 198251 chr19 45974110 45974110 C T rs768386636 FOSB Nonsynonymous SNV A117V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 198252 chr19 46002537 46002537 G A rs372837632 PPM1N Nonsynonymous SNV M269I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.13 198253 chr10 860726 860726 T C rs201513199 LARP4B Nonsynonymous SNV T629A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.019 198254 chr20 34618440 34618440 T C rs200247317 CNBD2 Nonsynonymous SNV L534S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 198255 chr10 3150903 3150903 C T rs556560338 PFKP Nonsynonymous SNV T78M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.88 198256 chr21 46696977 46696977 G A rs200720644 POFUT2 Synonymous SNV D262D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.793 198257 chr19 4683019 4683019 C T rs12976572 DPP9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.909 198258 chr19 4683909 4683909 T C DPP9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.017 198259 chr19 47259592 47259592 C G FKRP Synonymous SNV R295R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.135 198260 chr19 22784626 22784626 G A rs62121321 GOLGA2P9 0 0 0.014 0 0 0 0 4 0 0 0 0 2.669 198261 chr22 38153740 38153740 G A rs368559098 TRIOBP Synonymous SNV A223A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.36 198262 chr22 38240038 38240038 C A ANKRD54 Nonsynonymous SNV V70F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 198263 chr22 38369872 38369872 G A rs199657550 SOX10 Nonsynonymous SNV T344M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 198264 chr20 40034028 40034028 C A rs199637292 CHD6 Synonymous SNV L2451L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.387 198265 chr19 30500179 30500179 T G URI1 Synonymous SNV G300G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.95 198266 chr20 43804530 43804530 A T rs151106234 PI3 Nonsynonymous SNV K36N 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 22.9 198267 chr10 11998385 11998385 G A rs746549788 UPF2 Synonymous SNV L836L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.764 198268 chr19 33465034 33465034 A G rs146829849 FAAP24 Synonymous SNV L9L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.766 198269 chr19 49206232 49206232 C A rs772734604 FUT2 Nonsynonymous SNV P7T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.012 198270 chr19 33696426 33696426 C T rs199595100 LRP3 Synonymous SNV P250P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 4.342 198271 chr19 36018948 36018948 G A rs142218530 SBSN Nonsynonymous SNV T79I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 198272 chr22 22892314 22892314 G A rs41277505 PRAME Nonsynonymous SNV R247C 0.004 0 0 0 5 0 0 0 0 0 0 0 23 198273 chr22 46693346 46693346 G T rs906788261 GTSE1 Nonsynonymous SNV D17Y 0.002 0 0 0 2 0 0 0 0 0 0 0 8.903 198274 chr22 50582591 50582591 C T rs143290398 MOV10L1 Synonymous SNV L808L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.74 198275 chr20 60739271 60739271 G A rs35943394 SS18L1 Synonymous SNV A264A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 10.88 198276 chr20 60895865 60895865 C T rs139401504 LAMA5 Nonsynonymous SNV R2193H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 198277 chr19 39819150 39819150 G A rs145410023 GMFG Synonymous SNV A91A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 198278 chr17 32905991 32905991 C T rs745790409 C17orf102 0 0 0 1 0 0 0.003 0 0 0 0 0 3.983 198279 chr22 50942036 50942036 G A rs749491653 LMF2 Synonymous SNV P611P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.31 198280 chr17 32961826 32961826 G A rs763927718 TMEM132E Nonsynonymous SNV R566Q 0 0 0 3 0 0 0.008 0 0 0 0 0 34 198281 chr19 41000844 41000844 C T rs749087626 SPTBN4 Nonsynonymous SNV R210W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 198282 chr11 62378927 62378927 C G EML3 Nonsynonymous SNV G55A 0.001 0.013 0 0 1 5 0 0 0 0 0 0 0.001 198283 chr20 62172639 62172639 G A rs6011889 SRMS Nonsynonymous SNV A397V 0.007 0.008 0.014 0 8 3 0 4 1 0 0 0 21.3 198284 chr2 105859260 105859260 C G GPR45 Synonymous SNV L315L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.78 198285 chr19 42777363 42777363 C T rs536777917 CIC Synonymous SNV A476A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.469 198286 chr10 55663131 55663131 C T PCDH15 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 198287 chr21 16338188 16338188 C T NRIP1 Nonsynonymous SNV A776T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.096 198288 chr22 39910269 39910269 G A rs536286318 MIEF1 Nonsynonymous SNV E445K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 198289 chr19 54656661 54656661 C T rs200556056 CNOT3 Synonymous SNV P654P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.79 198290 chr21 33371034 33371034 C T HUNK Nonsynonymous SNV S561F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 198291 chr21 34117958 34117958 C T rs80293116 PAXBP1 Synonymous SNV E665E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.84 198292 chr11 67222962 67222962 C T rs371921931 CABP4 Nonsynonymous SNV A23V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.192 198293 chr2 125530401 125530401 C T CNTNAP5 Synonymous SNV I853I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.04 198294 chr19 55952055 55952055 G A rs996475348 SHISA7 Nonsynonymous SNV P250L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 198295 chr10 79576826 79576826 C T rs140025014 DLG5 Synonymous SNV A1271A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.82 198296 chr10 79616631 79616631 C T rs41274592 DLG5 Synonymous SNV P131P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.42 198297 chr21 41142958 41142958 C T rs61737685 IGSF5 Synonymous SNV L178L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.27 198298 chr21 41143018 41143018 T A rs74817033 IGSF5 Nonsynonymous SNV S198R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.3 198299 chr19 47876001 47876001 C T rs753676001 DHX34 Synonymous SNV L595L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 198300 chr10 91066397 91066397 G T rs746375885 IFIT2 Nonsynonymous SNV E228D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.652 198301 chr2 15326950 15326950 C A rs145283550 NBAS Synonymous SNV T2209T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 14.86 198302 chr21 44837556 44837556 C T rs777106028 SIK1, SIK1B Nonsynonymous SNV A615T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.314 198303 chr21 45217946 45217946 C T rs771599434 RRP1 Nonsynonymous SNV A259V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.047 198304 chr21 45671179 45671179 C T rs569425576 DNMT3L-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.989 198305 chr21 45876620 45876620 C T rs61735243 LRRC3 Synonymous SNV A31A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.3 198306 chr1 19166231 19166231 C A TAS1R2 Nonsynonymous SNV L794F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 198307 chr2 165987765 165987765 A T SCN3A Nonsynonymous SNV S803T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 198308 chr1 196973963 196973963 A C rs760732365 CFHR5 Synonymous SNV P501P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 198309 chr19 58864201 58864201 G A rs1038410635 A1BG-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.784 198310 chr1 60302608 60302608 G A rs894758927 HOOK1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 198311 chr19 6147526 6147526 G A ACSBG2 Nonsynonymous SNV G46D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 198312 chr2 170139451 170139451 C T rs138667752 LRP2 Nonsynonymous SNV R368H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.085 198313 chr22 19348772 19348772 T A rs767433349 HIRA Synonymous SNV A691A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 198314 chr2 172411222 172411222 T C CYBRD1 Nonsynonymous SNV M191T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 198315 chr22 20102343 20102343 T A rs778068968 TRMT2A Synonymous SNV T354T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.248 198316 chr22 20800848 20800848 T C rs145465005 KLHL22 Nonsynonymous SNV H474R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.146 198317 chr17 48615316 48615316 G A rs975261130 LOC105371824 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.448 198318 chr17 48753037 48753037 T G rs754371461 ABCC3 Synonymous SNV P920P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.157 198319 chr1 204131245 204131245 G A rs121917741 REN Stop gain R49X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Pathogenic 37 198320 chr2 136567385 136567385 C A LCT Nonsynonymous SNV K844N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.758 198321 chr19 53786149 53786149 A G rs80039192 FAM90A27P 0 0 0.01 0 0 0 0 3 0 0 0 0 0.309 198322 chr19 54105341 54105341 G A rs190004076 LOC284379 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 198323 chr22 24981981 24981981 G A rs202090927 LRRC75B Nonsynonymous SNV P274L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 198324 chr2 149227609 149227609 T C MBD5 Synonymous SNV S699S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.099 198325 chr22 28193103 28193103 G A MN1 Synonymous SNV G1143G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.869 198326 chr1 212799889 212799889 C T rs762346683 FAM71A Nonsynonymous SNV A557V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.391 198327 chr2 18741646 18741646 G T RDH14 Nonsynonymous SNV R65S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 198328 chr1 214815588 214815588 C G CENPF Nonsynonymous SNV L1303V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.7 198329 chr2 171709263 171709263 C T rs375640311 GAD1 Synonymous SNV G408G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 198330 chr22 38119214 38119214 C T rs112728182 TRIOBP Synonymous SNV S217S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.7 198331 chr2 176972669 176972669 - CGCCGCCACCCG HOXD11 P202_Q203insPAPP 0.001 0 0 0 1 0 0 0 0 0 0 0 198332 chr10 135209241 135209241 T A rs147793884 MTG1 Nonsynonymous SNV L46Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 198333 chr19 58563979 58563979 G A rs148775293 ZSCAN1 Nonsynonymous SNV R196H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 198334 chr17 72758167 72758167 G A rs41282065 SLC9A3R1 Nonsynonymous SNV R153Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 35 198335 chr11 556881 556881 G A LMNTD2 Synonymous SNV S310S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.852 198336 chr17 73498328 73498328 G A rs199928186 CASKIN2 Nonsynonymous SNV R861W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 198337 chr1 228505854 228505854 C T rs773583939 OBSCN Nonsynonymous SNV P4704L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.922 198338 chr19 7445830 7445830 C G rs866671111 ARHGEF18 Synonymous SNV A224A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.633 198339 chr1 228553233 228553233 A T rs374775988 OBSCN Synonymous SNV T6345T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 198340 chr2 196545408 196545408 A G rs777218365 SLC39A10 Synonymous SNV S214S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.544 198341 chr1 111957838 111957838 C G rs775654286 OVGP1 Nonsynonymous SNV E429Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 198342 chr1 112524611 112524611 G A KCND3 Synonymous SNV F246F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.17 198343 chr2 201822262 201822262 T C ORC2 Nonsynonymous SNV K34E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 198344 chr2 219000174 219000174 C T rs199822657 CXCR2 Nonsynonymous SNV S217F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.99 198345 chr2 202974363 202974363 C T rs200537175 KIAA2012 Nonsynonymous SNV A501V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.222 198346 chr2 203848307 203848307 - A rs201520695 CARF Frameshift insertion T372Nfs*5 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 198347 chr22 50967751 50967751 G A rs759383300 TYMP Synonymous SNV A77A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.999 198348 chr19 9000173 9000173 G A MUC16 Synonymous SNV Y13528Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.823 198349 chr2 100019556 100019556 A G REV1 Synonymous SNV P1059P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.534 198350 chr20 40790079 40790079 G T rs1037175540 PTPRT Nonsynonymous SNV F865L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.65 198351 chr19 9067935 9067935 G T rs200919021 MUC16 Nonsynonymous SNV S6504Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.497 198352 chr20 43927224 43927224 C A MATN4 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 198353 chr17 79169667 79169667 G A rs777848427 CEP131 Nonsynonymous SNV R662C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25 198354 chr20 43944927 43944927 G T RBPJL Nonsynonymous SNV S374I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.4 198355 chr20 44587923 44587923 A C rs146141478 ZNF335 Nonsynonymous SNV F724V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.7 198356 chr1 100525517 100525517 G A MFSD14A Synonymous SNV V109V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 198357 chr2 233659492 233659492 G C rs146944691 GIGYF2 Nonsynonymous SNV Q433H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24 198358 chr20 46300990 46300990 C G SULF2 Nonsynonymous SNV D510H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 198359 chr1 109270550 109270550 T C rs767632230 FNDC7 Nonsynonymous SNV M411T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.446 198360 chr1 109823608 109823608 C T rs765011270 PSRC1 Nonsynonymous SNV R262H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 198361 chr1 11594564 11594564 G A rs374956927 DISP3 Nonsynonymous SNV E1168K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 198362 chr20 58519493 58519493 G T rs535644826 FAM217B Nonsynonymous SNV E8D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.71 198363 chr1 156182823 156182823 G T rs778448047 PMF1, PMF1-BGLAP Nonsynonymous SNV S6I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 198364 chr2 144461090 144461090 C G rs199902781 ARHGAP15 Nonsynonymous SNV T414S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 198365 chr1 117568510 117568510 C A rs138020050 CD101 Synonymous SNV L936L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 10.31 198366 chr12 45803162 45803162 C T ANO6 Stop gain R635X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 43 198367 chr2 232457982 232457982 C T TEX44 Nonsynonymous SNV A107V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 198368 chr2 158165196 158165196 C T rs778823232 GALNT5 Synonymous SNV L880L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.02 198369 chr1 120277294 120277294 C T rs376632509 PHGDH Nonsynonymous SNV S183L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 198370 chr1 158617395 158617395 C T rs201407861 SPTA1 Nonsynonymous SNV R1277H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.06 198371 chr2 234708468 234708468 T C rs533386724 MROH2A Nonsynonymous SNV C458R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 198372 chr1 3551737 3551737 C T rs116230480 WRAP73 Nonsynonymous SNV S242N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 26.1 198373 chr2 26534082 26534082 G C rs543424547 ADGRF3 Nonsynonymous SNV S639R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 15.97 198374 chr1 159283952 159283952 G A rs371525700 OR10J3 Synonymous SNV G166G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.197 198375 chr2 27278082 27278082 C T AGBL5 Nonsynonymous SNV P290L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 198376 chr2 238303450 238303450 C T rs148970984 COL6A3 Synonymous SNV A163A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.82 198377 chr18 44140246 44140246 T C rs755498405 LOXHD1 Nonsynonymous SNV E954G 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 10.2 198378 chr2 27424227 27424227 G A rs138079521 SLC5A6 Synonymous SNV L547L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 8.823 198379 chr11 6411935 6411935 - GGCGCTGGC rs775568984 SMPD1 V36_L37insALA 0.001 0 0 0 1 0 0 0 0 0 0 0 198380 chr5 1038422 1038422 - CACGAGCACCACCACCAC rs748104579 NKD2 H443_H444insEHHHHH 0.002 0.003 0 0 2 1 0 0 0 0 0 0 198381 chr12 52710663 52710663 C T rs201760909 KRT83 Nonsynonymous SNV E299K 0.001 0.008 0 0 1 3 0 0 0 0 0 0 31 198382 chr2 27907918 27907918 G C rs147588869 SLC4A1AP Nonsynonymous SNV K630N 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24.7 198383 chr1 16332820 16332820 T C rs201378274 SRARP Synonymous SNV C163C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.077 198384 chr18 51053085 51053085 G A rs374199141 DCC Nonsynonymous SNV E1404K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 198385 chr1 41466727 41466727 C T CTPS1 Synonymous SNV P188P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.05 198386 chr1 152081825 152081825 C G rs183540170 TCHH Nonsynonymous SNV D1290H 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 198387 chr2 29294598 29294598 C G rs370203821 PCARE Nonsynonymous SNV A844P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11.46 198388 chr2 178095519 178095519 T A NFE2L2 Nonsynonymous SNV K574N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.6 198389 chr11 7507210 7507210 T C rs140792113 OLFML1 Nonsynonymous SNV I35T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 198390 chr2 29449798 29449798 G T rs138406372 ALK Synonymous SNV V1019V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 2.213 198391 chr1 155230337 155230337 G A SCAMP3 Synonymous SNV Y60Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.821 198392 chr2 179590654 179590654 G A rs751534449 TTN Nonsynonymous SNV R5555W 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 22.8 198393 chr18 65178816 65178816 C T rs139752903 DSEL Synonymous SNV T1010T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.49 198394 chr11 12313837 12313837 C T rs75013602 MICALCL Nonsynonymous SNV P41L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.333 198395 chr1 4772145 4772145 C T rs781008897 AJAP1 Nonsynonymous SNV A72V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.281 198396 chr2 27680789 27680789 G T rs201607202 IFT172 Nonsynonymous SNV H1010Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 198397 chr11 15134023 15134023 G A rs200115207 INSC Nonsynonymous SNV R3Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 198398 chr2 28069913 28069913 A G rs757786758 RBKS Synonymous SNV N115N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.566 198399 chr11 17794067 17794067 G A rs146311746 KCNC1 Nonsynonymous SNV V476I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.31 198400 chr2 188349633 188349633 G T rs145362964 TFPI Nonsynonymous SNV T147K 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 22.7 198401 chr1 158911819 158911819 G A rs140327432 PYHIN1 Nonsynonymous SNV R211Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.002 198402 chr18 77089272 77089272 C T rs756296171 ATP9B Synonymous SNV S635S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.86 198403 chr1 179993667 179993667 G A rs78647432 CEP350 Nonsynonymous SNV R1167H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.961 198404 chr1 160466120 160466120 A G SLAMF6 Nonsynonymous SNV V38A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 198405 chr1 165179987 165179987 T C LMX1A Synonymous SNV T232T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 198406 chr1 62995043 62995043 T C DOCK7 Nonsynonymous SNV Y1198C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.83 198407 chr1 1685549 1685549 T C NADK Nonsynonymous SNV I316V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 198408 chr12 80765819 80765819 T C OTOGL Synonymous SNV L2243L 0 0.005 0 0 0 2 0 0 0 0 0 0 5.5 198409 chr1 169762675 169762675 G A rs145863564 METTL18 Synonymous SNV D54D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 198410 chr11 35496184 35496184 T C rs117968051 PAMR1 Nonsynonymous SNV Q163R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 198411 chr1 68614331 68614331 G A rs183229421 WLS Nonsynonymous SNV R238W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 35 198412 chr2 74596528 74596528 G A rs184840910 DCTN1 Nonsynonymous SNV R361W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 198413 chr11 45247669 45247669 C T rs918593028 PRDM11 Nonsynonymous SNV S498L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 5.267 198414 chr1 19553887 19553887 C T rs139714938 EMC1 Nonsynonymous SNV V686I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.3 198415 chr11 46772096 46772096 A G CKAP5 Synonymous SNV S1782S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.191 198416 chr11 46785058 46785058 A G rs118105517 CKAP5 Synonymous SNV H1220H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.823 198417 chr19 12433508 12433508 C T rs200687195 ZNF563 Synonymous SNV E7E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.29 198418 chr19 12816356 12816356 C T TNPO2 Nonsynonymous SNV V605I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 198419 chr22 19375247 19375247 C G HIRA Nonsynonymous SNV S367T 0.003 0 0 0 4 0 0 0 0 0 0 0 18.97 198420 chr2 21364817 21364817 G T TDRD15 Nonsynonymous SNV G1493V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 198421 chr2 86831675 86831675 T C rs150471890 RNF103 Nonsynonymous SNV N450S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.86 198422 chr12 112167662 112167662 C T rs753278585 ACAD10 Synonymous SNV S432S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.913 198423 chr12 113401232 113401232 C T rs749725841 OAS3 Synonymous SNV D733D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 198424 chr3 108634962 108634962 T C rs201266111 GUCA1C Nonsynonymous SNV T152A 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 3.112 198425 chr11 55340217 55340217 G T OR4C16 Nonsynonymous SNV C205F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 198426 chr22 30518166 30518166 G A rs181903593 HORMAD2 Nonsynonymous SNV G173D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 198427 chr1 205812849 205812849 G T rs11581214 PM20D1 Nonsynonymous SNV S258Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 198428 chr11 55944242 55944242 A T rs147138458 OR5J2 Nonsynonymous SNV Q50L 0.005 0.003 0 0 6 1 0 0 0 0 0 0 0.003 198429 chr1 207643374 207643374 C T rs145709085 CR2 Synonymous SNV T384T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.071 198430 chr2 233214 233214 G A rs183834089 SH3YL1 Synonymous SNV N140N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.405 198431 chr5 176886701 176886701 C A rs372070843 DBN1 Synonymous SNV G332G 0.002 0 0 0 2 0 0 0 0 0 0 0 19.88 198432 chr5 176942242 176942242 T A DDX41 Stop gain K71X 0.002 0 0 0 2 0 0 0 0 0 0 0 40 198433 chr5 176942243 176942243 C T DDX41 Synonymous SNV L70L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.13 198434 chr5 176963668 176963668 G A rs377755741 FAM193B Nonsynonymous SNV P256L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 198435 chr1 203186979 203186979 C A rs140228721 CHIT1 Nonsynonymous SNV K329N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.2 198436 chr1 203316625 203316625 G T rs773951782 FMOD Synonymous SNV T258T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.232 198437 chr5 178383988 178383988 G C ZNF454 Nonsynonymous SNV R111P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.374 198438 chr12 129190723 129190723 G A rs577741464 TMEM132C Synonymous SNV T1070T 0 0.005 0.003 2 0 2 0.005 1 0 0 0 0 6.818 198439 chr3 11600291 11600291 G A rs755548711 VGLL4 Synonymous SNV T124T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.817 198440 chr1 205764057 205764057 C T rs771501446 SLC41A1 Nonsynonymous SNV G433R 0 0 0.003 0 0 0 0 1 0 0 0 0 35 198441 chr20 20270969 20270969 T C rs141409012 CFAP61 Synonymous SNV H1050H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.298 198442 chr1 20649979 20649979 T C rs201370343 VWA5B1 Nonsynonymous SNV I366T 0.003 0.003 0.01 0 4 1 0 3 0 0 0 0 25.6 198443 chr5 180377066 180377066 A G rs188974899 BTNL8 Nonsynonymous SNV Y226C 0.003 0 0 0 3 0 0 0 1 0 0 0 23.8 198444 chr2 238990448 238990448 C G rs146667548 SCLY Nonsynonymous SNV L195V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 198445 chr1 207135886 207135886 T C rs185655202 FCAMR Synonymous SNV S108S 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 0.574 198446 chr1 207195530 207195530 G A rs113091763 C1orf116 Nonsynonymous SNV R281W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 198447 chr3 124567346 124567346 A C rs774320083 ITGB5 Nonsynonymous SNV Y33D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.2 198448 chr3 126194325 126194325 G A rs1012090669 ZXDC Synonymous SNV A128A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.47 198449 chr3 127295857 127295857 C G rs75067887 TPRA1 Synonymous SNV S107S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign 13.11 198450 chr3 127379909 127379909 C T rs79302738 PODXL2 Synonymous SNV S346S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.67 198451 chr3 127391191 127391191 G A rs114192697 PODXL2 Synonymous SNV S562S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.33 198452 chr3 127391233 127391233 C T rs184585724 PODXL2 Synonymous SNV A576A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.5 198453 chr20 31044146 31044146 T C rs150591065 NOL4L Synonymous SNV P54P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.113 198454 chr22 42458917 42458917 C T rs372146176 NAGA Nonsynonymous SNV A291T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 198455 chr1 213125058 213125058 C A rs749455247 VASH2 Synonymous SNV I58I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 198456 chr1 227149149 227149149 G A rs11549709 COQ8A Synonymous SNV A21A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.12 198457 chr11 58980176 58980176 G A rs149377168 MPEG1 Nonsynonymous SNV R55W 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 27.7 198458 chr1 221509568 221509568 - TAA C1orf140 0 0 0.003 0 0 0 0 1 0 0 0 0 198459 chr1 221509569 221509569 - CA C1orf140 0 0 0.003 0 0 0 0 1 0 0 0 0 198460 chr20 35425351 35425351 C A SOGA1 Nonsynonymous SNV R1139L 0 0.005 0 0 0 2 0 0 0 0 0 0 22.2 198461 chr1 228033812 228033812 C T rs144968143 PRSS38 Nonsynonymous SNV T295M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 198462 chr3 130748624 130748624 - A rs772957947 NEK11 Frameshift insertion I25Nfs*37 0.002 0 0 1 2 0 0.003 0 0 0 0 0 198463 chr13 33334772 33334772 A G rs777740232 PDS5B Synonymous SNV Q1144Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.479 198464 chr11 60617765 60617765 G A rs200086528 CCDC86 Synonymous SNV K350K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.47 198465 chr20 41101050 41101050 C T rs192944843 PTPRT Nonsynonymous SNV E436K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 198466 chr3 130284312 130284312 C T rs781340956 COL6A6 Nonsynonymous SNV A379V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 198467 chr20 43257744 43257744 C T rs45557242 ADA Synonymous SNV K54K 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 11.4 198468 chr11 62287901 62287901 G A rs188789758 AHNAK Nonsynonymous SNV P4663L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.3 198469 chr1 227920644 227920644 C A JMJD4 Nonsynonymous SNV A349S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 198470 chr19 3614416 3614416 C T rs773360251 CACTIN Nonsynonymous SNV R445H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 198471 chr1 234744773 234744773 G A rs761558293 IRF2BP2 Synonymous SNV I156I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.305 198472 chr13 50594477 50594478 AA - rs772243810 KCNRG K236Nfs*2 0 0.005 0 0 0 2 0 0 0 0 0 0 198473 chr2 37208690 37208690 T C rs763214850 HEATR5B Synonymous SNV Q2053Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 198474 chr11 63884522 63884522 C T rs139711112 FLRT1 Synonymous SNV A261A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.626 198475 chr1 228547749 228547749 - C rs760106581 OBSCN Frameshift insertion Q6387Pfs*67 0 0 0.003 0 0 0 0 1 0 0 0 0 198476 chr1 22965538 22965538 A G rs143921949 C1QA Nonsynonymous SNV M126V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 198477 chr20 47847644 47847644 C T rs992919672 DDX27 Synonymous SNV C403C 0 0.003 0 0 0 1 0 0 0 0 0 0 6.002 198478 chr3 151012467 151012467 G T rs773593054 GPR87 Synonymous SNV I189I 0.002 0 0 5 2 0 0.013 0 0 0 0 0 0.004 198479 chr3 151165532 151165532 G C rs35667704 IGSF10 Nonsynonymous SNV P746R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 23.1 198480 chr1 23763921 23763921 C T ASAP3 Nonsynonymous SNV E374K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 198481 chr3 142212121 142212121 T C rs150964938 ATR Synonymous SNV Q1913Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.666 198482 chr20 50287703 50287703 C T rs146526523 ATP9A Synonymous SNV T377T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 198483 chr2 44115744 44115744 A C rs145232874 LRPPRC Nonsynonymous SNV S1394A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 198484 chr13 99582495 99582495 C T rs199901746 DOCK9 Nonsynonymous SNV R88Q 0 0.005 0 0 0 2 0 0 0 0 0 0 33 198485 chr13 100617707 100617707 G C rs774228538 ZIC5 Nonsynonymous SNV S639C 0.002 0.01 0 0 2 4 0 0 0 0 0 0 26.4 198486 chr2 48602092 48602092 A C rs760479463 FOXN2 Nonsynonymous SNV Q269P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 198487 chr1 247320359 247320359 G A rs754748969 ZNF124 Nonsynonymous SNV R189C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 198488 chr11 67068972 67068972 G A rs775136797 ANKRD13D Synonymous SNV P454P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.5 198489 chr13 110435692 110435700 GCTGGGCAG - rs752700578 IRS2 L901_S903del 0.002 0.01 0 0 2 4 0 0 0 0 0 0 198490 chr1 2436404 2436404 G C rs113392853 PLCH2 Nonsynonymous SNV V1335L 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 0.991 198491 chr2 65243784 65243784 G A rs776339519 SLC1A4 Synonymous SNV A117A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 198492 chr3 174974316 174974316 T C NAALADL2 Synonymous SNV Y312Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.01 198493 chr1 2443110 2443110 G A rs751831829 PANK4 Synonymous SNV S580S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.38 198494 chr3 180379751 180379751 A G rs769151570 CCDC39 Synonymous SNV H85H 0.003 0 0 0 3 0 0 0 0 0 0 0 2.784 198495 chr2 68873321 68873321 A C PROKR1 Nonsynonymous SNV Y123S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 198496 chr11 73073498 73073498 G A rs61749196 ARHGEF17 Nonsynonymous SNV R1572K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.933 198497 chr11 73074364 73074364 G A rs149334917 ARHGEF17 Nonsynonymous SNV G1704S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.7 198498 chr11 73850837 73850837 C T rs151308158 C2CD3 Nonsynonymous SNV D174N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 21.2 198499 chr3 183245716 183245716 G A rs749755206 KLHL6 Synonymous SNV L126L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 198500 chr11 76814071 76814071 G T rs781809682 OMP Synonymous SNV R62R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.026 198501 chr3 186571010 186571010 C T rs138227502 ADIPOQ Nonsynonymous SNV R55C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 198502 chr1 25549865 25549865 G A rs764856985 SYF2 Synonymous SNV I166I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 198503 chr3 184910775 184910775 C G EHHADH Nonsynonymous SNV V375L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 198504 chr3 193036838 193036838 C A ATP13A5 Nonsynonymous SNV A659S 0.003 0 0 1 4 0 0.003 0 1 0 0 0 24.6 198505 chr1 26885370 26885370 T C rs779938369 RPS6KA1 Nonsynonymous SNV L395P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 198506 chr1 26650728 26650728 A G CRYBG2 Nonsynonymous SNV M1551T 0 0 0.007 0 0 0 0 2 0 0 0 0 27 198507 chr11 86519219 86519219 C T rs139165833 PRSS23 Synonymous SNV H178H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.283 198508 chr11 94134120 94134120 C A rs145788421 GPR83 Nonsynonymous SNV K98N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 198509 chr11 94910991 94910991 C T rs141908117 SESN3 Nonsynonymous SNV R241Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 198510 chr1 3645975 3645975 G A TP73 Nonsynonymous SNV D338N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 198511 chr3 33661158 33661158 G A rs373712683 CLASP2 Synonymous SNV L185L 0.003 0.01 0.003 0 3 4 0 1 0 0 0 0 13.67 198512 chr1 39750771 39750771 G A rs534291282 MACF1 Nonsynonymous SNV G388D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 198513 chr1 39878741 39878741 C G rs145511340 KIAA0754 Nonsynonymous SNV A935G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.8 198514 chr3 39942399 39942401 AAG - rs746598479 MYRIP E34del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 198515 chr1 43783021 43783021 T G rs143318072 TIE1 Nonsynonymous SNV I809S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 198516 chr11 118211190 118211190 C G CD3D Synonymous SNV L58L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.491 198517 chr3 42787449 42787449 C G CCDC13 Nonsynonymous SNV G264A 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 198518 chr1 45476687 45476687 G T rs547143590 HECTD3 Synonymous SNV A81A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.801 198519 chr11 119061087 119061087 G A rs148741920 CCDC153 Synonymous SNV H185H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.494 198520 chr1 45277753 45277753 G A BTBD19 Nonsynonymous SNV V133I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 198521 chr1 45809156 45809156 C T rs377031691 TOE1 Nonsynonymous SNV R439W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 198522 chr11 119535664 119535664 G A rs116441631 NECTIN1 Synonymous SNV G449G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.874 198523 chr3 44763744 44763744 A G ZNF502 Nonsynonymous SNV T479A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.149 198524 chr1 46080988 46080988 G A rs148852919 NASP Nonsynonymous SNV E559K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 198525 chr11 119549291 119549291 G A rs7131391 NECTIN1 Synonymous SNV S88S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.42 198526 chr11 120349077 120349077 G A rs759035837 ARHGEF12 Nonsynonymous SNV A1230T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 198527 chr1 48459961 48459961 C T rs752234837 TRABD2B Synonymous SNV T137T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 198528 chr3 126216949 126216949 C A UROC1 Synonymous SNV L461L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 198529 chr1 49224878 49224878 C T rs201623671 BEND5 Nonsynonymous SNV G147S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 198530 chr3 127295698 127295698 G A rs751109202 TPRA1 Synonymous SNV I128I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 198531 chr3 128077191 128077191 C T rs372940216 EEFSEC Synonymous SNV S525S 0.002 0 0.01 0 2 0 0 3 0 0 0 0 14.72 198532 chr1 55118880 55118880 T C MROH7 Nonsynonymous SNV L94P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.82 198533 chr1 55148466 55148466 C T rs772042102 MROH7 Nonsynonymous SNV A358V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 198534 chr22 18354628 18354628 C T rs369723243 MICAL3 Synonymous SNV S801S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 198535 chr1 62673005 62673005 G T rs562376868 L1TD1 Synonymous SNV V235V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.106 198536 chr3 132440746 132440746 G A NPHP3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.422 198537 chr1 65131832 65131832 A G CACHD1 Nonsynonymous SNV H494R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 198538 chr1 66102692 66102693 TG - rs756571131 LEPR *1166delinsISLKKPSDLCYNG* 0 0 0.003 0 0 0 0 1 0 0 0 0 198539 chr1 6679954 6679954 C T rs114858108 PHF13 Nonsynonymous SNV A78V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 198540 chr11 128781784 128781784 G A rs750424299 KCNJ5 Nonsynonymous SNV A206T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 31 198541 chr3 136057277 136057277 G T rs371093379 STAG1 Synonymous SNV R1230R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.636 198542 chr3 139090642 139090642 G A rs147356224 COPB2 Synonymous SNV I376I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 198543 chr3 146173245 146173245 A G rs113147741 PLSCR2 Synonymous SNV V103V 0.004 0.003 0.007 2 5 1 0.005 2 0 0 0 0 0.134 198544 chr22 25294352 25294352 T C rs767612222 SGSM1 Synonymous SNV V751V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 198545 chr12 4479917 4479917 T A FGF23 Nonsynonymous SNV Q116H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 198546 chr12 4736215 4736215 G A rs146079915 AKAP3 Nonsynonymous SNV P618L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.28 198547 chr1 85733449 85733449 G C BCL10 Nonsynonymous SNV S177C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 198548 chr22 29138230 29138230 C T HSCB Synonymous SNV G49G 0 0.005 0 0 0 2 0 0 0 0 0 0 13.41 198549 chr1 86047146 86047146 G C CCN1 Nonsynonymous SNV K54N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 198550 chr2 211442172 211442172 A T CPS1 Nonsynonymous SNV S137C 0.003 0 0 0 3 0 0 0 0 0 0 0 13.96 198551 chr12 6031941 6031941 G A rs201785753 ANO2 Nonsynonymous SNV R18W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 198552 chr2 212293143 212293143 A G ERBB4 Synonymous SNV V903V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.622 198553 chr3 157146186 157146186 C T rs144692384 VEPH1 Nonsynonymous SNV M207I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 198554 chr3 73111354 73111354 G A EBLN2 Nonsynonymous SNV S41N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 198555 chr3 87313540 87313540 G A rs138356138 POU1F1 Nonsynonymous SNV R113W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 198556 chr22 37273777 37273777 G A rs751005224 NCF4 Nonsynonymous SNV R311H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.482 198557 chr22 38028016 38028016 C T rs139989671 GGA1 Synonymous SNV P427P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.76 198558 chr3 180349347 180349347 C T rs770356376 CCDC39 Synonymous SNV E636E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.44 198559 chr4 100485282 100485282 G A rs569667113 MTTP Synonymous SNV G10G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 11.56 198560 chr22 38122318 38122318 C T rs560619122 TRIOBP Nonsynonymous SNV S1252F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 198561 chr1 9804550 9804550 C T rs149754530 CLSTN1 Synonymous SNV S369S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 198562 chr20 11903531 11903531 C T rs55860534 BTBD3 Synonymous SNV C111C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 198563 chr1 94943860 94943860 A G rs760083671 ABCD3 Nonsynonymous SNV I225V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.08 198564 chr12 12247751 12247751 G A rs147550863 BCL2L14 Nonsynonymous SNV V278I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 198565 chr12 12966314 12966314 G A rs138450211 DDX47 Nonsynonymous SNV E5K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.06 198566 chr20 16347868 16347868 C T rs142402240 KIF16B Nonsynonymous SNV A1368T 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 5.921 198567 chr2 225684218 225684218 T C rs552775428 DOCK10 Nonsynonymous SNV Y1065C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 198568 chr3 186395367 186395367 G A HRG Nonsynonymous SNV G425S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 198569 chr4 110920902 110920902 G T rs149056615 EGF Nonsynonymous SNV A902S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.4 198570 chr12 15823822 15823822 T G EPS8 Nonsynonymous SNV S58R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 198571 chr4 1209997 1209997 G A rs759145559 CTBP1-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 2.596 198572 chr22 44131767 44131767 C G EFCAB6 Nonsynonymous SNV C53S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 198573 chr20 2187667 2187667 G A rs74914469 LOC388780 0 0 0.014 0 0 0 0 4 0 0 0 0 9.987 198574 chr22 45689193 45689193 G A rs747509958 UPK3A Nonsynonymous SNV V114M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.97 198575 chr3 194379765 194379765 A G rs778994568 LSG1 Nonsynonymous SNV M227T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 198576 chr4 125592812 125592812 C G rs375387643 ANKRD50 Nonsynonymous SNV Q361H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 198577 chr20 30193539 30193539 - C ID1 Frameshift insertion G119Rfs*112 0 0 0.003 0 0 0 0 1 0 0 0 0 198578 chr22 50480068 50480068 T C rs768133394 TTLL8 Nonsynonymous SNV Q307R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 198579 chr3 195594714 195594714 G A rs200979285 TNK2 Nonsynonymous SNV P836S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.018 198580 chr20 30776953 30776953 C A rs140053456 TSPY26P 0 0 0.01 0 0 0 0 3 0 0 0 0 5.809 198581 chr22 50616322 50616322 C T rs199548028 PANX2 Nonsynonymous SNV T394I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 198582 chr3 195595469 195595469 G A rs200135214 TNK2 Nonsynonymous SNV S584L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 198583 chr22 50689418 50689418 C A HDAC10 Nonsynonymous SNV R15L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 198584 chr4 146461098 146461098 C T SMAD1 Synonymous SNV S181S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 198585 chr15 41277615 41277615 C T rs141223506 INO80 Nonsynonymous SNV R1281Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 29.7 198586 chr12 46246166 46246166 A G ARID2 Synonymous SNV V1420V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.613 198587 chr20 2380291 2380291 G A rs566515306 TGM6 Nonsynonymous SNV G253S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 198588 chr12 48547223 48547223 G A rs76905550 ASB8 Synonymous SNV S19S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14 198589 chr20 34832818 34832818 C T rs539592841 AAR2 Synonymous SNV S319S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 198590 chr20 25457079 25457079 C T rs139628909 NINL Nonsynonymous SNV A950T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.478 198591 chr20 30556192 30556192 G A rs763410317 XKR7 Nonsynonymous SNV A72T 0.002 0 0 0 2 0 0 0 0 0 0 0 28 198592 chr12 49994316 49994316 C T rs753676043 FAM186B Synonymous SNV S369S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.14 198593 chr20 31572993 31572993 T A rs200863119 SUN5 0.001 0 0 0 1 0 0 0 0 0 0 0 24 198594 chr12 50535840 50535840 C A rs146787766 CERS5 Nonsynonymous SNV W163L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 22.8 198595 chr15 43489551 43489551 G A EPB42 Synonymous SNV N705N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.23 198596 chr20 42875988 42875988 A G rs201862996 GDAP1L1 Nonsynonymous SNV N5S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 198597 chr20 43547597 43547597 C T rs184944540 PABPC1L Nonsynonymous SNV A185V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 198598 chr12 51592371 51592371 G A rs764913596 POU6F1 Nonsynonymous SNV T185M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.75 198599 chr20 33582157 33582157 G A rs755719619 MYH7B Nonsynonymous SNV V927I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 198600 chr6 84649795 84649795 A T rs142951450 CYB5R4 Nonsynonymous SNV S377C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 198601 chr20 33874855 33874855 C G rs200986110 FAM83C Nonsynonymous SNV G576A 0.001 0 0 0 1 0 0 0 0 0 0 0 21 198602 chr2 109546604 109546604 G A rs375891208 EDAR Nonsynonymous SNV P49L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.5 198603 chr2 112873712 112873712 A G rs765011904 TMEM87B Nonsynonymous SNV I554V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 198604 chr2 112944812 112944812 C T rs760281370 FBLN7 Nonsynonymous SNV T304M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 198605 chr2 113082142 113082142 A G rs753182375 ZC3H6 Nonsynonymous SNV N585S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 198606 chr12 52715097 52715097 A G rs747873972 KRT83 Nonsynonymous SNV I8T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.124 198607 chr20 4771150 4771150 G A rs764886904 RASSF2 Nonsynonymous SNV R162W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 198608 chr4 185310205 185310205 G A rs376870150 IRF2 Nonsynonymous SNV R253W 0.003 0 0 0 4 0 0 0 0 0 0 0 19.94 198609 chr20 39983372 39983372 G A rs74573862 LPIN3 Nonsynonymous SNV E540K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.003 198610 chr2 120194809 120194809 C T TMEM37 Synonymous SNV C122C 0 0.003 0 0 0 1 0 0 0 0 0 0 3.345 198611 chr20 56083675 56083675 C T rs565083368 CTCFL Nonsynonymous SNV G410D 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 198612 chr2 121742223 121742223 G A rs367686872 GLI2 Synonymous SNV T478T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.827 198613 chr12 53217726 53217726 T A rs116963732 KRT79 Nonsynonymous SNV E364V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 198614 chr2 128890763 128890763 A G rs954268175 UGGT1 Nonsynonymous SNV S476G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 198615 chr12 53454208 53454208 C G rs75248314 TNS2 Synonymous SNV S889S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign 7.458 198616 chr20 60770936 60770936 G A MTG2 Nonsynonymous SNV E95K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 198617 chr20 60886322 60886322 G A rs149413796 LAMA5 Synonymous SNV C3328C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.134 198618 chr12 55523975 55523975 G A rs149555130 OR9K2 Synonymous SNV A141A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.74 198619 chr12 56109978 56109978 A C BLOC1S1 Nonsynonymous SNV Q48P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 198620 chr4 25849141 25849141 C A rs139899954 SEL1L3 Nonsynonymous SNV A135S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.477 198621 chr4 2648430 2648430 C T rs150567078 FAM193A Synonymous SNV H103H 0.003 0 0 0 3 0 0 0 0 0 0 0 15.25 198622 chr20 50406652 50406652 C G rs570760124 SALL4 Synonymous SNV P790P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.369 198623 chr3 52239970 52239970 G A rs140582251 ALAS1 Nonsynonymous SNV A306T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 198624 chr3 52245444 52245444 G A ALAS1 Synonymous SNV L492L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 198625 chr20 61938900 61938900 C T rs767672689 COL20A1 Synonymous SNV D185D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.48 198626 chr2 152580847 152580847 T C rs200719359 NEB Nonsynonymous SNV K180R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 198627 chr12 57861180 57861180 C T rs754075170 GLI1 Nonsynonymous SNV T198M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 198628 chr20 62328303 62328303 G A rs538491653 TNFRSF6B Synonymous SNV P61P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.004 198629 chr3 52726910 52726910 G A GNL3 Nonsynonymous SNV D298N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 198630 chr20 56730619 56730619 C T rs139141770 C20orf85 Synonymous SNV Y82Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.714 198631 chr20 57566121 57566121 G A rs372830513 NELFCD Synonymous SNV P315P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.368 198632 chr4 39064407 39064407 T A KLHL5 Synonymous SNV T91T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.552 198633 chr3 53769521 53769521 C T rs147601660 CACNA1D Synonymous SNV F914F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.9 198634 chr21 15660844 15660844 C T rs61744467 ABCC13 0 0 0.003 0 0 0 0 1 0 0 0 0 3.587 198635 chr3 54952508 54952508 C A rs757176230 LRTM1 Nonsynonymous SNV R263L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.733 198636 chr2 1647329 1647329 C T PXDN Nonsynonymous SNV G1255R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 198637 chr15 82336738 82336738 G C MEX3B Nonsynonymous SNV P158R 0 0.008 0 0 0 3 0 0 0 0 0 0 25 198638 chr2 166872171 166872171 G T rs368609628 SCN1A Nonsynonymous SNV Q1166K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.33 198639 chr2 168110563 168110563 G A XIRP2 Nonsynonymous SNV E178K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 198640 chr21 33346894 33346894 C T rs746748107 HUNK Synonymous SNV S346S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 198641 chr20 60910126 60910126 G A LAMA5 Synonymous SNV C811C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.579 198642 chr3 69236999 69236999 G T rs191669150 FRMD4B Nonsynonymous SNV P614H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.8 198643 chr3 8607283 8607283 G T rs561098521 LMCD1 Nonsynonymous SNV G224C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 198644 chr12 88500556 88500556 C T rs747065944 CEP290 Nonsynonymous SNV E905K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 198645 chr12 91449430 91449430 C A KERA Nonsynonymous SNV R210I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 198646 chr2 172650176 172650176 C A SLC25A12 Synonymous SNV L469L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 198647 chr20 62038150 62038150 C T rs779798310 KCNQ2 Synonymous SNV A794A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.29 198648 chr20 62200759 62200759 G A rs757481372 HELZ2 Nonsynonymous SNV P277L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.125 198649 chr2 179425470 179425470 G A rs144731702 TTN Synonymous SNV L19398L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.844 198650 chr12 100649930 100649930 G C rs372453399 DEPDC4 Nonsynonymous SNV P259A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.7 198651 chr12 100813773 100813773 C G SLC17A8 Nonsynonymous SNV H486D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.41 198652 chr20 62839333 62839335 GAG - rs770659337 MYT1 E273del 0.001 0 0 0 1 0 0 0 0 0 0 0 198653 chr21 43508413 43508413 G A rs761153789 UMODL1 Nonsynonymous SNV A205T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 198654 chr12 103234271 103234271 G A rs5030858 PAH Nonsynonymous SNV R408W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 31 198655 chr12 104370728 104370728 C T rs201193630 TDG Nonsynonymous SNV T19M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.93 198656 chr21 27124341 27124341 G C GABPA Nonsynonymous SNV A117P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 198657 chr21 45725714 45725714 C T rs199690149 PFKL Nonsynonymous SNV T44I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 198658 chr21 45751814 45751814 C T rs9306099 CFAP410 Nonsynonymous SNV G153S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.8 198659 chr21 45752939 45752939 C T rs9976610 CFAP410 Nonsynonymous SNV R117H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 198660 chr21 45811373 45811373 G A rs763025249 TRPM2 Synonymous SNV A553A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.815 198661 chr1 1219358 1219358 G A rs866750681 SCNN1D Nonsynonymous SNV E118K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 198662 chr2 190592760 190592760 C T rs142352023 ANKAR Synonymous SNV N938N 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 7.714 198663 chr1 14105864 14105864 A G PRDM2 Nonsynonymous SNV Q324R 0 0 0 3 0 0 0.008 0 0 0 0 0 7.987 198664 chr2 190925045 190925045 C T rs35781413 MSTN Nonsynonymous SNV E164K 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 16.78 198665 chr4 77288865 77288865 T G CCDC158 Nonsynonymous SNV E471A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 198666 chr21 47664865 47664865 A T MCM3AP Nonsynonymous SNV S1632T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 198667 chr21 34615992 34615992 G A rs561488102 IFNAR2 Nonsynonymous SNV V24M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 198668 chr4 79328988 79328988 G A rs749321722 FRAS1 Nonsynonymous SNV R1434H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 198669 chr21 47931427 47931427 G A rs531391462 DIP2A Synonymous SNV S291S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.375 198670 chr21 47965147 47965147 G A rs539382417 DIP2A Synonymous SNV A715A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.923 198671 chr12 120784046 120784046 G A rs766485289 MSI1 Synonymous SNV P313P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.55 198672 chr21 39492443 39492443 G T rs142823517 DSCR4 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 198673 chr22 19710873 19710873 C T rs192285693 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 198674 chr22 19748468 19748468 G T rs72646952 TBX1 Synonymous SNV G25G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.546 198675 chr21 41427707 41427707 G A rs770276824 DSCAM Synonymous SNV I1660I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 198676 chr12 121686502 121686502 C T rs56000497 CAMKK2 Synonymous SNV P453P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.26 198677 chr22 21349013 21349013 C T rs771464089 LZTR1 Synonymous SNV L594L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.3 198678 chr22 21356433 21356433 G A rs191458878 THAP7-AS1 0 0 0.02 0 0 0 0 6 0 0 0 0 13.69 198679 chr2 207172271 207172271 C T ZDBF2 Nonsynonymous SNV P1007S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.076 198680 chr4 89827613 89827613 C T rs531398565 FAM13A Nonsynonymous SNV E254K 0.003 0 0 0 3 0 0 0 0 0 0 0 15.85 198681 chr12 124870399 124870399 G A rs201351745 NCOR2 Synonymous SNV I636I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.48 198682 chr21 45560144 45560144 C T rs143689872 GATD3A, GATD3B Synonymous SNV A61A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 198683 chr16 2374446 2374446 C T rs779362355 ABCA3 Nonsynonymous SNV E136K 0 0.008 0 0 0 3 0 0 0 0 0 0 24 198684 chr22 25115476 25115476 G A rs758336863 PIWIL3 Nonsynonymous SNV P871L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 198685 chr1 155292912 155292912 G A RUSC1 Nonsynonymous SNV G450S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.054 198686 chr22 25586687 25586687 C G rs374070655 KIAA1671 Synonymous SNV P1787P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.81 198687 chr2 21365769 21365769 A G TDRD15 Synonymous SNV L1810L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 198688 chr22 26688383 26688383 G A rs373985470 SEZ6L Nonsynonymous SNV E36K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 198689 chr12 132538097 132538097 G A rs199758676 EP400 Synonymous SNV A2561A 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.203 198690 chr16 3544798 3544798 C T rs367929322 C16orf90 Synonymous SNV P42P 0 0.008 0 0 0 3 0 0 0 0 0 0 10.98 198691 chr12 132633440 132633440 G T NOC4L Nonsynonymous SNV G301W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 198692 chr21 47549388 47549388 G A rs138231613 COL6A2 Nonsynonymous SNV A914T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.481 198693 chr12 133338349 133338349 C G ANKLE2 Synonymous SNV A12A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.79 198694 chr22 30928547 30928547 G C rs978205334 SEC14L6 Nonsynonymous SNV L130V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.315 198695 chr22 31478973 31478973 C T SMTN Nonsynonymous SNV P23S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.268 198696 chr13 25264485 25264485 G A rs114057646 ATP12A Nonsynonymous SNV V186I 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23 198697 chr5 121488560 121488560 G A rs55769824 ZNF474 Nonsynonymous SNV R292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 198698 chr22 19471397 19471397 A G rs758575467 CDC45 Nonsynonymous SNV I73V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.986 198699 chr5 131925354 131925354 A G rs145428112 RAD50 Nonsynonymous SNV Q426R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 198700 chr13 28562704 28562704 C G URAD Nonsynonymous SNV R24T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.185 198701 chr2 220471779 220471779 G A rs375742770 STK11IP Nonsynonymous SNV R380Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 198702 chr1 160167382 160167382 C T rs559664470 CASQ1 Nonsynonymous SNV P269L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 198703 chr16 19195281 19195281 G A rs141380488 SYT17 Nonsynonymous SNV V251M 0 0.008 0 0 0 3 0 0 0 0 0 0 27.6 198704 chr13 32972743 32972743 - TGAATTATA rs758307938 BRCA2 V3365_S3366insNYI 0.002 0.003 0 0 2 1 0 0 0 0 0 0 198705 chr13 32972745 32972745 - T rs730881599 BRCA2 Stop gain S3366* 0.002 0.003 0 0 2 1 0 0 0 0 0 0 198706 chr4 1989699 1989699 C T rs753191059 NELFA Nonsynonymous SNV G194R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 198707 chr5 137089198 137089198 G A rs182579149 HNRNPA0 Synonymous SNV G186G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.998 198708 chr4 2306212 2306212 C G ZFYVE28 Nonsynonymous SNV D589H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 198709 chr3 141713939 141713939 C A rs746537571 TFDP2 Synonymous SNV L49L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 16.41 198710 chr5 139060485 139060485 C T rs767759718 CXXC5 Nonsynonymous SNV A126V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 198711 chr5 139886536 139886536 T C rs201062330 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV L1175L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.162 198712 chr4 3076606 3076606 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 198713 chr22 44004465 44004465 C T rs55698170 EFCAB6 Nonsynonymous SNV D708N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 198714 chr5 13776739 13776739 G T DNAH5 Nonsynonymous SNV P3061H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 198715 chr1 165738079 165738079 G A rs771145323 TMCO1 Synonymous SNV G21G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.08 198716 chr5 137895687 137895687 C T rs750008058 HSPA9 Nonsynonymous SNV G426S 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 198717 chr5 140237443 140237443 G A PCDHA10 Nonsynonymous SNV A604T 0.002 0 0 0 2 0 0 0 1 0 0 0 26.5 198718 chr13 49852498 49852498 G A CDADC1 Nonsynonymous SNV G355R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 198719 chr5 140553617 140553617 T C rs201300608 PCDHB7 Nonsynonymous SNV Y401H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 198720 chr22 46719141 46719141 C T rs145754460 GTSE1 Nonsynonymous SNV S496L 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 23.9 198721 chr22 46760629 46760629 G A rs370828853 CELSR1 Synonymous SNV D2853D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.116 198722 chr5 140718812 140718812 C T PCDHGA2 Nonsynonymous SNV R92W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 198723 chr22 32007209 32007209 G A SFI1 Nonsynonymous SNV V724M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 198724 chr22 34046370 34046370 C T rs56239539 LARGE1 Nonsynonymous SNV V131I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 198725 chr13 93518612 93518612 G C rs775889340 GPC5 Nonsynonymous SNV G547R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 198726 chr22 50682205 50682205 G A rs373713187 TUBGCP6 Synonymous SNV V228V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 198727 chr5 140750949 140750949 T A rs774974302 PCDHGB3 Nonsynonymous SNV Y330N 0.003 0 0 0 3 0 0 0 0 0 0 0 1.918 198728 chr13 97485184 97485184 G A rs761521237 HS6ST3 Nonsynonymous SNV R383Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29 198729 chr22 50693950 50693950 T C rs368005916 MAPK12 Nonsynonymous SNV Y251C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 198730 chr22 37271849 37271849 C T rs749287293 NCF4 Nonsynonymous SNV A261V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.8 198731 chr22 50905974 50905974 G A rs376741098 SBF1 Nonsynonymous SNV T143M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 198732 chr22 50941981 50941981 G A rs74394407 LMF2 Synonymous SNV L630L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.463 198733 chr3 172070668 172070668 G A rs143064249 FNDC3B Nonsynonymous SNV V864I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.02 198734 chr22 37334245 37334245 C T rs544020050 CSF2RB Nonsynonymous SNV R799C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 198735 chr22 50964878 50964878 T C rs1042023607 TYMP Nonsynonymous SNV H319R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.291 198736 chr5 148407322 148407322 C T rs138040787 SH3TC2 Nonsynonymous SNV R658H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 198737 chr4 5500733 5500733 C A rs61729661 STK32B Nonsynonymous SNV Q360K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.7 198738 chr3 182631654 182631654 T C rs141511726 ATP11B Synonymous SNV T1108T 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 8.313 198739 chr2 100065908 100065908 T C rs148608059 REV1 Synonymous SNV V80V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.255 198740 chr5 145317642 145317642 G A rs755645411 SH3RF2 Nonsynonymous SNV E51K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 198741 chr13 103718406 103718406 G A rs112657170 SLC10A2 Nonsynonymous SNV P65L 0.003 0.005 0 0 4 2 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 32 198742 chr5 145651227 145651227 A G RBM27 Nonsynonymous SNV Q993R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 198743 chr2 242178134 242178134 A G rs774377591 HDLBP Synonymous SNV G860G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.94 198744 chr5 147040452 147040452 C T rs1046404328 JAKMIP2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.188 198745 chr22 40719218 40719218 T C rs757503761 TNRC6B Synonymous SNV L1715L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 198746 chr2 102988526 102988526 C T rs34216045 IL18R1 Nonsynonymous SNV T139I 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 4.214 198747 chr2 10586898 10586898 C T rs192090667 SNORA80B 0 0 0.007 0 0 0 0 2 0 0 0 0 14.79 198748 chr14 20389541 20389541 T C rs116787378 OR4K5 Nonsynonymous SNV V259A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.017 198749 chr14 20404395 20404395 G A rs74705836 OR4K1 Nonsynonymous SNV M190I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.146 198750 chr5 158697575 158697575 G A rs768278667 UBLCP1 Synonymous SNV E124E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.462 198751 chr2 27455501 27455501 G T CAD Nonsynonymous SNV R881L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 198752 chr2 113950133 113950133 G A rs377061829 PSD4 Nonsynonymous SNV R602Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 198753 chr2 11798722 11798722 G A rs202107509 NTSR2 Synonymous SNV A372A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.21 198754 chr2 29449875 29449875 C T rs150344432 ALK Nonsynonymous SNV E994K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.5 198755 chr14 21024758 21024758 T C rs142708288 RNASE9 Synonymous SNV S157S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.015 198756 chr14 21024930 21024930 G A rs145871018 RNASE9 Nonsynonymous SNV A100V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.926 198757 chr2 131128517 131128517 C G rs11682593 PTPN18 Nonsynonymous SNV H195D 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 8.247 198758 chr16 81737666 81737666 G A rs749388276 CMIP Synonymous SNV K595K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 198759 chr16 84101283 84101283 A G MBTPS1 Synonymous SNV D739D 0.002 0.01 0 0 2 4 0 0 0 0 0 0 10.07 198760 chr5 176836528 176836528 T C rs749803886 F12 Star tloss M1? 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 198761 chr5 176863117 176863117 C T rs747628957 GRK6 Synonymous SNV D157D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.51 198762 chr22 50966081 50966081 C T rs749557166 TYMP Synonymous SNV A194A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.65 198763 chr4 87593539 87593539 C T PTPN13 Nonsynonymous SNV A46V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 198764 chr5 176942773 176942773 G A rs766175686 DDX41 Nonsynonymous SNV R36C 0.003 0 0 0 3 0 0 0 0 0 0 0 33 198765 chr2 15676649 15676649 G C rs202027230 NBAS Nonsynonymous SNV S180R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 198766 chr16 85840507 85840507 C T rs774710244 COX4I1 Nonsynonymous SNV R91C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 4.368 198767 chr2 67631910 67631910 G T rs138592466 ETAA1 Nonsynonymous SNV S699I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 198768 chr5 179251013 179251013 G A rs145056421 SQSTM1 Nonsynonymous SNV V153I 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Uncertain significance 13.18 198769 chr2 160755523 160755523 T C rs201265039 LY75, LY75-CD302 Nonsynonymous SNV K48E 0 0 0.007 0 0 0 0 2 0 0 0 0 12.94 198770 chr2 162363221 162363221 C T rs115662946 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.727 198771 chr5 180374678 180374678 G T rs552118493 BTNL8 Synonymous SNV G280G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.32 198772 chr5 24511604 24511604 A G CDH10 Synonymous SNV V278V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.766 198773 chr2 75720687 75720687 C T rs765525580 EVA1A Nonsynonymous SNV G45E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 198774 chr2 179430876 179430876 G A TTN Synonymous SNV Y17596Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.717 198775 chr2 179475039 179475039 C G TTN Nonsynonymous SNV E8007Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 198776 chr14 52781642 52781642 A G rs769235307 PTGER2 Nonsynonymous SNV M126V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.44 198777 chr5 1225688 1225688 T A rs7728814 SLC6A18 Synonymous SNV T32T 0.002 0 0.007 0 2 0 0 2 0 0 1 0 2.347 198778 chr5 1225697 1225697 C G rs33945178 SLC6A18 Synonymous SNV A35A 0.002 0 0.007 0 2 0 0 2 0 0 1 0 5.194 198779 chr2 121748130 121748130 C T rs769826605 GLI2 Nonsynonymous SNV P1405L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 198780 chr2 122486068 122486068 C T rs768619189 NIFK Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 198781 chr5 40764634 40764634 C A PRKAA1 Nonsynonymous SNV D329Y 0.002 0 0 0 2 0 0 0 0 0 0 0 33 198782 chr5 127613663 127613663 G A rs147102633 FBN2 Synonymous SNV C2460C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.46 198783 chr5 428113 428113 G A rs542713317 AHRR Synonymous SNV A304A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 198784 chr2 95944486 95944486 C T rs369819540 PROM2 Synonymous SNV N356N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.51 198785 chr14 59792755 59792755 G A rs61755642 DAAM1 Synonymous SNV P378P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.553 198786 chr2 98411523 98411523 T C TMEM131 Nonsynonymous SNV T1086A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.101 198787 chr2 99155998 99155998 T C rs35028575 INPP4A Synonymous SNV G226G 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 0.007 198788 chr5 55259257 55259257 T C rs780160178 IL6ST Nonsynonymous SNV N246D 0.003 0 0 0 4 0 0 0 2 0 0 0 12.54 198789 chr2 186668963 186668963 T - rs778519622 FSIP2 V4977Gfs*3 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 198790 chr14 63473124 63473124 G A rs373008977 KCNH5 Synonymous SNV Y88Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.235 198791 chr2 186673065 186673065 T C rs200393690 FSIP2 Synonymous SNV D6344D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 198792 chr3 51737897 51737897 C T rs775344944 TEX264 Synonymous SNV S195S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.67 198793 chr3 51749266 51749266 G A rs577518979 GRM2 Nonsynonymous SNV G115S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.578 198794 chr3 52021005 52021005 G A rs777838025 ABHD14A-ACY1, ACY1 Stop gain W123X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 37 198795 chr1 227153401 227153401 G A rs115855910 COQ8A Synonymous SNV V206V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 10.62 198796 chr3 10347339 10347339 A G rs764546940 SEC13 Nonsynonymous SNV V149A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.038 198797 chr1 227842516 227842516 G C rs61744724 ZNF678 Nonsynonymous SNV V213L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15 198798 chr8 13357176 13357176 T C rs200103571 DLC1 Synonymous SNV T135T 0.004 0 0 0 5 0 0 0 0 0 0 0 Likely benign 0.002 198799 chr2 192225364 192225364 A G rs35168694 MYO1B Synonymous SNV L190L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.859 198800 chr2 192255030 192255030 G A rs73984118 MYO1B Synonymous SNV P598P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.78 198801 chr1 228003442 228003442 G A rs747234531 PRSS38 Nonsynonymous SNV G9S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.42 198802 chr3 108822740 108822740 C T rs142771630 MORC1 Nonsynonymous SNV G60E 0 0.003 0 0 0 1 0 0 0 0 0 0 26 198803 chr5 78532607 78532607 C G rs528007143 JMY Nonsynonymous SNV T45S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26 198804 chr14 69351576 69351576 G A rs4899266 ACTN1 Synonymous SNV P470P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 12.8 198805 chr2 164468186 164468186 G A rs751344935 FIGN Synonymous SNV Y41Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.304 198806 chr14 71374597 71374597 A C PCNX1 Synonymous SNV R10R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.235 198807 chr5 74807184 74807194 CCGCCGCGCCG - rs1016443351 CERT1 R75Afs*37 0.001 0 0 0 1 0 0 0 0 0 0 0 198808 chr5 141026246 141026246 C G FCHSD1 Nonsynonymous SNV S323T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 198809 chr14 75537292 75537292 C A ZC2HC1C Synonymous SNV R6R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.29 198810 chr17 7710871 7710871 C T rs372988182 DNAH2 Synonymous SNV A3232A 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 15.66 198811 chr14 76231049 76231049 T A TTLL5 Nonsynonymous SNV S548T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 198812 chr14 77945054 77945054 A C rs143880556 ISM2 Stop gain Y326X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 198813 chr5 80021292 80021292 G A rs144798521 MSH3 Nonsynonymous SNV R454Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 198814 chr2 176995145 176995145 T G rs766210106 HOXD8 Synonymous SNV A17A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.69 198815 chr2 179401870 179401870 C A rs775769503 TTN Nonsynonymous SNV W24257C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 198816 chr1 24401857 24401857 T C MYOM3 Nonsynonymous SNV K937R 0 0 0 2 0 0 0.005 0 0 0 0 0 20.9 198817 chr14 91780429 91780429 C T rs776023917 CCDC88C Synonymous SNV S577S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.97 198818 chr14 93407968 93407968 C T rs765232616 ITPK1 Nonsynonymous SNV V276M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.017 198819 chr3 12545129 12545129 A G rs777921610 TSEN2 Nonsynonymous SNV D226G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.97 198820 chr17 17070010 17070010 G A rs760442367 MPRIP Nonsynonymous SNV R1734Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.141 198821 chr1 247614953 247614953 A G OR2B11 Nonsynonymous SNV L111P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 198822 chr3 126708588 126708588 C T rs557890734 PLXNA1 Synonymous SNV S384S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.524 198823 chr17 19582054 19582054 G A rs113657311 SLC47A2 Nonsynonymous SNV A549V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.47 198824 chr2 225376209 225376209 T A CUL3 Nonsynonymous SNV M183L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 198825 chr4 106182969 106182969 A G TET2 Synonymous SNV T1336T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.775 198826 chr14 100551130 100551130 A G rs143412382 EVL Nonsynonymous SNV I38V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 198827 chr2 230377596 230377596 G A rs755132810 DNER Synonymous SNV Y350Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.789 198828 chr5 156770536 156770536 G A rs767226158 FNDC9 Synonymous SNV I3I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 198829 chr14 102466368 102466368 T C DYNC1H1 Nonsynonymous SNV Y1283H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 198830 chr3 130285734 130285734 A G COL6A6 Nonsynonymous SNV N491D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.699 198831 chr6 114378934 114378934 G A rs778244737 HS3ST5 Synonymous SNV I176I 0.002 0 0 0 2 0 0 0 0 0 0 0 4.83 198832 chr14 103807365 103807365 C T rs369858645 EIF5 Synonymous SNV D424D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.04 198833 chr2 234197394 234197394 C G rs148832644 SCARNA6 0 0 0.003 0 0 0 0 1 0 0 0 0 6.903 198834 chr6 13470833 13470833 T A rs758824653 GFOD1 Stop gain R95X 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 6.248 198835 chr6 139202226 139202226 T C rs190995561 ECT2L Synonymous SNV L600L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.207 198836 chr17 29221675 29221675 C T rs199708163 ATAD5 Synonymous SNV Y1797Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.068 198837 chr6 132196940 132196940 G A rs150601068 ENPP1 Nonsynonymous SNV G554R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 31 198838 chr15 24923863 24923863 C T rs201694207 NPAP1 Nonsynonymous SNV S950L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.22 198839 chr1 33099565 33099565 T C rs149447473 ZBTB8OS Synonymous SNV E82E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.004 198840 chr6 137524760 137524760 C T rs201471898 IFNGR1 Synonymous SNV A203A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.03 198841 chr5 179264564 179264564 G A rs540010749 MRNIP Nonsynonymous SNV R232W 0.001 0 0 0 1 0 0 0 0 0 0 0 5.067 198842 chr15 33922231 33922231 A G rs199638420 RYR3 Nonsynonymous SNV T924A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 14.49 198843 chr17 35307601 35307601 C - rs764978310 AATF A60Dfs*150 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 198844 chr15 38793479 38793479 G A rs61759869 RASGRP1 Synonymous SNV L481L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 10.68 198845 chr1 36921503 36921503 C T MRPS15 Synonymous SNV L220L 0 0 0 4 0 0 0.01 0 0 0 0 0 15.71 198846 chr5 21842333 21842333 C T rs777335173 CDH12 Nonsynonymous SNV G27R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 198847 chr8 42694348 42694348 C A THAP1 Nonsynonymous SNV C83F 0.003 0 0 0 3 0 0 0 0 0 0 0 14.16 198848 chr3 16535268 16535268 C T rs137931766 RFTN1 Nonsynonymous SNV E37K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 198849 chr5 32090556 32090556 T C rs368769625 PDZD2 Synonymous SNV S2334S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.185 198850 chr5 34880384 34880384 A G rs775558739 TTC23L Nonsynonymous SNV K359E 0.002 0 0 0 2 0 0 0 0 0 0 0 16.08 198851 chr2 218937131 218937131 C G rs374271135 RUFY4 Nonsynonymous SNV P63R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 198852 chr6 152730736 152730736 A G rs141671123 SYNE1 Synonymous SNV T2120T 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.923 198853 chr5 36257134 36257134 G A rs16902872 RANBP3L Nonsynonymous SNV A247V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 31 198854 chr15 42363446 42363446 G A rs772313158 PLA2G4D Nonsynonymous SNV A584V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.896 198855 chr15 42529671 42529671 A G TMEM87A Nonsynonymous SNV F215S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.9 198856 chr15 43426027 43426027 G T TMEM62 Synonymous SNV V9V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.668 198857 chr6 160523631 160523631 C T rs147933063 IGF2R Nonsynonymous SNV A2308V 0.003 0 0 0 3 0 0 0 0 0 0 0 21.6 198858 chr15 45490974 45490974 C T rs16940558 SHF Nonsynonymous SNV R100H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 25.5 198859 chr2 223781186 223781186 A G rs145651020 ACSL3 Synonymous SNV A176A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.31 198860 chr4 187171428 187171428 G A rs142771228 KLKB1 Synonymous SNV A210A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.925 198861 chr15 49073442 49073442 C T rs758484832 CEP152 Nonsynonymous SNV V510M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 198862 chr4 187539586 187539586 A G rs183203772 FAT1 Synonymous SNV I2718I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 4.899 198863 chr2 53995049 53995049 T C rs147424840 CHAC2 Nonsynonymous SNV L9P 0.002 0 0.014 0 2 0 0 4 0 0 0 0 29.7 198864 chr4 187584709 187584709 T A rs139789197 FAT1 Synonymous SNV T1108T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 16.15 198865 chr3 193130069 193130069 A G rs189928723 ATP13A4 Nonsynonymous SNV F1036L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 198866 chr2 55408785 55408785 C T rs75073607 CLHC1 Nonsynonymous SNV A162T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 198867 chr15 55919222 55919222 A C PRTG Nonsynonymous SNV Y971D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.5 198868 chr2 6115087 6115087 A G rs910269676 SILC1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.297 198869 chr5 70308554 70308554 C A rs115486998 NAIP Nonsynonymous SNV R63S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 24.9 198870 chr2 65131721 65131721 A G rs4140739 LINC02245 0 0 0.003 0 0 0 0 1 0 0 0 0 0.718 198871 chr2 233349709 233349709 C T rs771487141 ECEL1 Synonymous SNV V316V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.304 198872 chr5 72419616 72419616 A T rs141693426 TMEM171 Nonsynonymous SNV N139I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.84 198873 chr6 24412614 24412614 G C MRS2 Synonymous SNV L143L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.606 198874 chr2 68385599 68385599 A G rs371420658 PNO1 Nonsynonymous SNV I99V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.169 198875 chr5 72873764 72873764 A C rs73762105 UTP15 Synonymous SNV S136S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 198876 chr3 27204197 27204197 C T rs777551317 NEK10 Nonsynonymous SNV R267K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 198877 chr17 48187440 48187440 G A rs760121579 PDK2 Synonymous SNV T337T 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 14.02 198878 chr6 27215806 27215806 C T rs747310099 PRSS16 Synonymous SNV S72S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.928 198879 chr6 2683323 2683323 A G rs778618915 MYLK4 Nonsynonymous SNV F207L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 198880 chr2 73651806 73651806 G A rs373371896 ALMS1 Nonsynonymous SNV R338H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 198881 chr6 2890532 2890532 C A SERPINB9 Synonymous SNV A332A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.2 198882 chr2 74274744 74274744 T C rs148646838 TET3 Nonsynonymous SNV V474A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.478 198883 chr6 35051202 35051202 G A rs375549519 ANKS1A Synonymous SNV T972T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 198884 chr17 55072976 55072976 G C SCPEP1 Nonsynonymous SNV A256P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 25.9 198885 chr2 239756995 239756995 C T rs749779587 TWIST2 Nonsynonymous SNV P47S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 198886 chr15 73075814 73075814 G A ADPGK Synonymous SNV R73R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.11 198887 chr5 89968474 89968474 T C rs111753827 ADGRV1 Nonsynonymous SNV Y1622H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 23.3 198888 chr5 89971213 89971213 C T rs185971062 ADGRV1 Nonsynonymous SNV A1755V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 2.618 198889 chr5 89979485 89979485 C T rs35791889 ADGRV1 Nonsynonymous SNV T1916I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.9 198890 chr5 90040920 90040920 G A rs144618536 ADGRV1 Nonsynonymous SNV R3536H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.62 198891 chr2 98378533 98378533 G A rs1017672761 TMEM131 Synonymous SNV G1618G 0 0 0.007 0 0 0 0 2 0 0 0 0 11.81 198892 chr3 108214686 108214686 T C rs773751137 MYH15 Nonsynonymous SNV T238A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 198893 chr6 43499286 43499286 T C rs201138656 XPO5 Nonsynonymous SNV N824S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.649 198894 chr17 71084834 71084834 C A rs141558950 SLC39A11 Nonsynonymous SNV A24S 0.002 0.005 0 5 2 2 0.013 0 0 0 0 0 25.4 198895 chr17 71165566 71165566 G A rs199516932 SSTR2 Synonymous SNV P36P 0.003 0.01 0 2 3 4 0.005 0 0 0 0 0 0.232 198896 chr15 84581995 84581995 C T rs139253965 ADAMTSL3 Nonsynonymous SNV R618W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 198897 chr1 85647873 85647873 T C SYDE2 Nonsynonymous SNV I818V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.71 198898 chr6 47202564 47202564 T C rs144939843 TNFRSF21 Nonsynonymous SNV N527S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 198899 chr1 85725118 85725118 T C rs148943228 C1orf52 Nonsynonymous SNV T67A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.28 198900 chr6 44081736 44081736 G A rs776295466 MRPL14 Synonymous SNV P60P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.063 198901 chr2 31400666 31400666 G A rs144558381 CAPN14 Nonsynonymous SNV R601C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 198902 chr17 72958362 72958362 G C rs142613998 HID1 Nonsynonymous SNV S193C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 25.7 198903 chr17 73263877 73263877 C A rs767558450 MIF4GD Nonsynonymous SNV G100C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 34 198904 chr15 89390476 89390476 G T rs748987964 ACAN Nonsynonymous SNV V478F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 198905 chr1 89732755 89732755 C T GBP5 Synonymous SNV A170A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.61 198906 chr15 89400547 89400547 G A ACAN Synonymous SNV E1577E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.592 198907 chr17 73910971 73910971 C A rs200319918 FBF1 Nonsynonymous SNV G891W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 198908 chr15 89876456 89876456 C T POLG Nonsynonymous SNV R177Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 198909 chr3 122646806 122646806 G A rs778995801 SEMA5B Synonymous SNV A169A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 198910 chr1 92573543 92573543 G A rs370358765 BTBD8 Nonsynonymous SNV R216H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.23 198911 chr15 90611236 90611236 C T rs746007474 ZNF710 Synonymous SNV G289G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.93 198912 chr15 91504906 91504906 G T rs200580039 RCCD1 Synonymous SNV V346V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.754 198913 chr9 134398412 134398412 - G rs398124245 POMT1 Frameshift insertion D549Gfs*8 0.003 0 0 0 4 0 0 0 0 0 0 0 198914 chr3 127682178 127682178 G T KBTBD12 Nonsynonymous SNV A547S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 198915 chr6 135318077 135318077 T C HBS1L Nonsynonymous SNV H226R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 198916 chr2 54849514 54849514 T A rs200097410 SPTBN1 Synonymous SNV I305I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 198917 chr3 57321985 57321987 AGA - ASB14 L138del 0 0.005 0 1 0 2 0.003 0 0 0 0 0 198918 chr3 129127628 129127628 T C EFCAB12 Nonsynonymous SNV H370R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 198919 chr1 9796095 9796095 C T CLSTN1 Nonsynonymous SNV D509N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 198920 chr1 989295 989295 C T rs369308183 AGRN Synonymous SNV P1938P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 20.2 198921 chr17 78079604 78079604 C T GAA Synonymous SNV H201H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 5.521 198922 chr15 100252709 100252709 - CAGCAGCAG rs374033278 MEF2A Q352_P353insQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 198923 chr6 146207919 146207919 T A rs199848865 SHPRH Nonsynonymous SNV T1654S 0.005 0 0 0 6 0 0 0 0 0 0 0 19.79 198924 chr20 16348389 16348389 A C rs777480790 KIF16B Nonsynonymous SNV L1194R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29.7 198925 chr16 615129 615129 C T PRR35 Nonsynonymous SNV S513F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.5 198926 chr16 845224 845224 G C rs201684077 CHTF18 Synonymous SNV L681L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.495 198927 chr6 158510956 158510956 G A rs61756209 SYNJ2 Nonsynonymous SNV R944Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 198928 chr4 100203519 100203519 C A ADH1A Nonsynonymous SNV G271V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 198929 chr16 1639658 1639658 C T rs141993139 IFT140 Nonsynonymous SNV R253Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.07 198930 chr7 100549778 100549778 T C rs763855441 MUC3A Nonsynonymous SNV L120S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.8 198931 chr3 151598493 151598493 C T rs147844411 SUCNR1 Synonymous SNV N54N 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 2.871 198932 chr3 15219127 15219127 G A rs138000288 COL6A4P1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.98 198933 chr16 2136866 2136866 C T rs35534817 TSC2 Synonymous SNV T1417T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 10.24 198934 chr16 2521896 2521896 G A rs187669244 NTN3 Nonsynonymous SNV R65Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.14 198935 chr4 108817071 108817071 T C rs900314127 SGMS2 Nonsynonymous SNV I121T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 198936 chr6 166578124 166578124 G A rs141018360 TBXT Synonymous SNV P233P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.355 198937 chr5 129083981 129083981 G C rs781212843 MINAR2 Nonsynonymous SNV S33T 0.003 0 0 0 3 0 0 0 0 0 0 0 10.49 198938 chr20 33068898 33068898 G A rs147636046 ITCH Synonymous SNV L550L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.64 198939 chr16 4027596 4027596 G A rs57040218 ADCY9 Synonymous SNV A905A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.28 198940 chr20 34215281 34215281 T C rs138915422 CPNE1 Nonsynonymous SNV Y386C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 198941 chr20 34542230 34542231 TT - rs539694073 SCAND1 R56Sfs*39 0 0 0 1 0 0 0.003 0 0 0 0 0 198942 chr3 183524869 183524869 G A YEATS2 Nonsynonymous SNV V1334I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 198943 chr20 39792622 39792622 C T rs1041843270 PLCG1 Nonsynonymous SNV R358W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 198944 chr3 184647370 184647370 A T rs776439430 VPS8 Nonsynonymous SNV Y893F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 198945 chr6 25826754 25826754 C T rs145586828 SLC17A1 Nonsynonymous SNV V48M 0.001 0 0 0 1 0 0 0 0 0 0 0 29 198946 chr6 26189278 26189278 C T rs142303259 H4C4 Synonymous SNV K9K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 198947 chr7 100866984 100866984 C A ZNHIT1 Nonsynonymous SNV L102M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 198948 chr16 16130357 16130357 C T rs8187849 ABCC1 Synonymous SNV L236L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.32 198949 chr16 16177325 16177325 G A rs752196316 ABCC1 Nonsynonymous SNV V740M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 198950 chr7 100634034 100634034 G C MUC12 Nonsynonymous SNV A64P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.109 198951 chr7 100634041 100634041 A C MUC12 Nonsynonymous SNV K66T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 198952 chr7 100634048 100634049 CC - MUC12 Stop gain L69* 0.002 0 0 0 2 0 0 0 0 0 0 0 198953 chr7 100634050 100634050 - TC MUC12 Frameshift insertion D70Lfs*65 0.002 0 0 0 2 0 0 0 0 0 0 0 198954 chr7 100634053 100634053 A C MUC12 Nonsynonymous SNV D70A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 198955 chr7 100634057 100634057 C T MUC12 Synonymous SNV S71S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.965 198956 chr7 100634065 100634065 A C MUC12 Nonsynonymous SNV N74T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 198957 chr7 100634068 100634068 C T MUC12 Nonsynonymous SNV S75L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.205 198958 chr7 100634069 100634069 A G rs747146341 MUC12 Synonymous SNV S75S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.101 198959 chr7 100634074 100634074 A G MUC12 Nonsynonymous SNV H77R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 198960 chr7 100634075 100634075 C T MUC12 Synonymous SNV H77H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.406 198961 chr3 121137922 121137922 A G STXBP5L Nonsynonymous SNV D1156G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 198962 chr7 103969249 103969254 GCCGCC - rs981607392 LHFPL3 A13_A14del 0.003 0 0 0 3 0 0 0 0 0 0 0 198963 chr6 38834396 38834396 A C rs45532134 DNAH8 Synonymous SNV L1959L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.38 198964 chr7 111982728 111982728 A C rs199510722 ZNF277 Nonsynonymous SNV T433P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.94 198965 chr6 41309771 41309771 C T rs41273780 NCR2 Synonymous SNV S188S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.838 198966 chr7 121678929 121678929 G A rs150233853 PTPRZ1 Nonsynonymous SNV V963M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.4 198967 chr6 42236624 42236624 G A rs764787228 TRERF1 Synonymous SNV D235D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.554 198968 chr20 57251314 57251314 C G STX16 Synonymous SNV L311L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.73 198969 chr6 42637956 42637956 C T rs773525859 UBR2 Synonymous SNV C1336C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 198970 chr3 12581771 12581771 G A MKRN2OS Nonsynonymous SNV A198V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 198971 chr16 30016617 30016617 G A rs771968022 INO80E Nonsynonymous SNV G158R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 198972 chr16 30594295 30594295 G - rs765715397 ZNF785 Y269Tfs*161 0.001 0.003 0 0 1 1 0 0 0 0 0 0 198973 chr3 126748749 126748749 A G rs147504334 PLXNA1 Nonsynonymous SNV S1635G 0.006 0.005 0.003 1 7 2 0.003 1 0 0 0 0 23.1 198974 chr7 133906599 133906599 T A rs150705013 LRGUK Nonsynonymous SNV F638I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.475 198975 chr16 31308927 31308927 C T rs374182650 ITGAM Synonymous SNV Y483Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.933 198976 chr6 46660403 46660403 G T rs376216679 TDRD6 Nonsynonymous SNV W1513L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.6 198977 chr7 138957165 138957165 G A rs201200509 UBN2 Nonsynonymous SNV R565H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 198978 chr3 42599075 42599075 A G rs780202090 SEC22C Synonymous SNV L214L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.144 198979 chr7 139655341 139655341 C G rs137946697 TBXAS1 Nonsynonymous SNV P147R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 25.2 198980 chr4 187073107 187073107 G A rs755451059 FAM149A Synonymous SNV V280V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.85 198981 chr16 57921902 57921902 T C rs200181155 CNGB1 Nonsynonymous SNV K1101E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 198982 chr7 142583230 142583230 A C TRPV6 Nonsynonymous SNV L51R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 198983 chr16 58318562 58318562 G C rs61740099 PRSS54 Nonsynonymous SNV P97A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 14.23 198984 chr16 68112366 68112366 C T rs765423786 DUS2 Nonsynonymous SNV R362C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 198985 chr3 140281960 140281960 G A rs776061646 CLSTN2 Synonymous SNV E799E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.429 198986 chr3 14187609 14187609 A T rs776266193 XPC Nonsynonymous SNV D692E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 198987 chr6 7568079 7568079 G A rs150422458 DSP Synonymous SNV K402K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign/Likely benign 15.34 198988 chr19 2425252 2425252 G A TMPRSS9 Synonymous SNV S956S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.561 198989 chr3 52398717 52398717 C T rs774298278 DNAH1 Stop gain R1770X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 198990 chr3 52548799 52548799 C T rs750314449 STAB1 Nonsynonymous SNV T1254M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 198991 chr3 52554849 52554849 C T STAB1 Synonymous SNV Y1912Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.703 198992 chr7 150325728 150325728 C G rs148793735 GIMAP6 Nonsynonymous SNV Q56H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.101 198993 chr19 3656496 3656496 G A PIP5K1C Synonymous SNV L176L 0 0.005 0 0 0 2 0 0 0 0 0 0 12.62 198994 chr6 89967416 89967416 G A rs749271574 GABRR2 Synonymous SNV N457N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.684 198995 chr3 53842740 53842740 G A rs776968811 CACNA1D Synonymous SNV P1914P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.922 198996 chr16 82182367 82182367 G C rs768450743 MPHOSPH6 Nonsynonymous SNV A151G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.3 198997 chr4 48096164 48096164 C A rs201323270 TXK Nonsynonymous SNV W213C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 198998 chr3 161064037 161064037 A G SPTSSB Synonymous SNV V25V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.815 198999 chr7 100319633 100319633 G A rs62483572 EPO Nonsynonymous SNV D70N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.5 199000 chr7 100453459 100453459 G A rs756372119 SLC12A9 Nonsynonymous SNV D150N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 199001 chr7 25181899 25181899 T G rs199868682 C7orf31 Synonymous SNV V304V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.725 199002 chr21 43287416 43287416 G A rs772711497 PRDM15 Synonymous SNV N204N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.95 199003 chr3 9027304 9027304 G C rs535318078 SRGAP3 Nonsynonymous SNV R1043G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 199004 chr3 93754192 93754192 A - ARL13B D26Vfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 199005 chr7 20193827 20193827 C T MACC1 Nonsynonymous SNV V779I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 199006 chr3 9432098 9432098 T C rs116230327 THUMPD3-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 6.759 199007 chr3 9807679 9807679 G A rs371693150 OGG1 Nonsynonymous SNV V312M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 199008 chr7 23015864 23015864 A C FAM126A Nonsynonymous SNV S197R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.459 199009 chr7 27147802 27147802 T C rs530214829 HOXA3 Nonsynonymous SNV Y355C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 199010 chr7 27285647 27285647 - CCTGCC rs143308454 EVX1 P98_Y99insLP 0.002 0 0 0 2 0 0 0 0 0 0 0 199011 chr21 46321491 46321491 G A rs146745379 ITGB2 Synonymous SNV T219T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 3.16 199012 chr4 106848508 106848508 G A rs533479092 NPNT Nonsynonymous SNV R63Q 0 0 0.007 0 0 0 0 2 0 0 0 0 11.9 199013 chr16 89249990 89249990 C T CDH15 Nonsynonymous SNV T131I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.97 199014 chr7 30893015 30893015 G A rs754685088 MINDY4 Synonymous SNV T539T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.555 199015 chr7 31617677 31617677 C T rs201177934 ITPRID1 Nonsynonymous SNV R267W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.8 199016 chr21 47655302 47655302 C G rs141757607 MCM3AP Synonymous SNV A1941A 0 0 0 2 0 0 0.005 0 0 0 0 0 8.077 199017 chr16 89777199 89777199 G C rs527966263 VPS9D1 Synonymous SNV P351P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.075 199018 chr16 90037966 90037966 A C CENPBD1 Stop gain L122X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 36 199019 chr17 181342 181342 G A LOC100506388 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.507 199020 chr4 79328868 79328868 G C rs376487875 FRAS1 Nonsynonymous SNV G1394A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.39 199021 chr17 2866735 2866735 C G RAP1GAP2 Nonsynonymous SNV I71M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 199022 chr7 116340228 116340228 G A rs200016433 MET Nonsynonymous SNV A364T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 199023 chr7 47942030 47942030 C A PKD1L1 Synonymous SNV V670V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 199024 chr17 3595054 3595054 C T rs534631748 P2RX5 Nonsynonymous SNV V58I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.849 199025 chr4 147149646 147149646 T C rs17021263 REELD1 Nonsynonymous SNV F294L 0 0 0.01 0 0 0 0 3 0 0 0 0 0.51 199026 chr4 147561672 147561672 G T rs61733420 POU4F2 Synonymous SNV A314A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 7.541 199027 chr4 147628656 147628656 G A rs201238305 TTC29 Nonsynonymous SNV R459C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 199028 chr4 152048837 152048837 G A rs753783514 SH3D19 Nonsynonymous SNV P671L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.485 199029 chr22 29169729 29169729 A G rs142089992 CCDC117 Nonsynonymous SNV K68E 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 23.7 199030 chr4 159154109 159154109 A G rs34277853 TMEM144 Nonsynonymous SNV D157G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 199031 chr7 131825444 131825444 C A rs749115824 PLXNA4 Synonymous SNV T1784T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 199032 chr22 30416742 30416742 C T rs775354882 MTMR3 Nonsynonymous SNV R1032C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 199033 chr5 114598533 114598533 C T rs767141936 PGGT1B Nonsynonymous SNV D6N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 199034 chr5 115298898 115298898 C T rs145336539 LVRN Nonsynonymous SNV P195L 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 1 19.05 199035 chr4 170840497 170840497 G T rs78039393 LINC02275 0 0 0.014 0 0 0 0 4 0 0 2 0 3.119 199036 chr4 1719338 1719338 G A rs563431937 TMEM129 Nonsynonymous SNV H249Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 199037 chr22 31836799 31836799 G A rs150049620 EIF4ENIF1 Synonymous SNV I695I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.2 199038 chr22 32111375 32111375 T A PRR14L Nonsynonymous SNV D817V 0 0 0 2 0 0 0.005 0 0 0 0 0 20.2 199039 chr3 44488975 44488975 T G rs761291533 ZNF445 Nonsynonymous SNV K718Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.462 199040 chr7 141872487 141872487 C T rs763834845 MGAM2 Nonsynonymous SNV R1162C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 199041 chr17 8046806 8046806 G T PER1 Synonymous SNV A950A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.298 199042 chr19 14752357 14752357 C T rs144211355 ADGRE3 Synonymous SNV A248A 0 0.005 0 0 0 2 0 0 0 0 0 0 16.21 199043 chr17 8215671 8215671 G A rs777484923 ARHGEF15 Nonsynonymous SNV R105Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.58 199044 chr7 883126 883126 G A rs370251394 SUN1 Nonsynonymous SNV R57Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.111 199045 chr7 143175210 143175210 G A rs150180972 TAS2R41 Nonsynonymous SNV R82Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.879 199046 chr7 94992082 94992082 G A PON3 Nonsynonymous SNV T256I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 199047 chr17 10216518 10216518 C T rs376810508 MYH13 Nonsynonymous SNV E1380K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 199048 chr7 148978832 148978832 C T rs777407775 ZNF783 Nonsynonymous SNV R347W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 199049 chr7 99689283 99689283 C T rs139971845 COPS6 Synonymous SNV D285D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.55 199050 chr17 10618825 10618825 T C rs780761905 TMEM220 Nonsynonymous SNV Y113C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 199051 chr22 39482556 39482556 A C APOBEC3G Synonymous SNV S269S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.003 199052 chr7 97862148 97862148 G A rs367929161 TECPR1 Synonymous SNV A603A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.18 199053 chr4 2661701 2661701 G A rs61731404 FAM193A Synonymous SNV S264S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.638 199054 chr8 103324367 103324367 G C rs372504688 UBR5 Nonsynonymous SNV S753C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 199055 chr4 2934381 2934381 G C rs769478098 MFSD10 Synonymous SNV L159L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.602 199056 chr17 17046924 17046925 CT - rs757751215 MPRIP L514Vfs*32 0.002 0.003 0 0 2 1 0 0 0 0 0 0 199057 chr22 42095644 42095644 C T rs200066340 MEI1 Synonymous SNV R34R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.97 199058 chr22 42294751 42294751 G C rs17848351 SREBF2 Nonsynonymous SNV V902L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.2 199059 chr6 131277287 131277287 A G rs370569985 EPB41L2 Synonymous SNV D113D 0.004 0 0 3 5 0 0.008 0 0 0 0 0 6.831 199060 chr19 17283703 17283703 G T rs368455645 MYO9B Nonsynonymous SNV A691S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 23.2 199061 chr7 154862736 154862736 A T rs150221112 HTR5A Nonsynonymous SNV I43F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 199062 chr22 43465776 43465776 T C rs775204353 TTLL1 Nonsynonymous SNV N63S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.2 199063 chr5 140256585 140256585 G A rs191376557 PCDHA12 Nonsynonymous SNV V510M 0.002 0.005 0.01 0 2 2 0 3 0 0 0 0 26.1 199064 chr4 39408635 39408635 A G KLB Nonsynonymous SNV I22M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 199065 chr5 140719353 140719353 G A rs772509350 PCDHGA2 Nonsynonymous SNV G272D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 199066 chr3 52398908 52398908 C A DNAH1 Nonsynonymous SNV D1797E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 199067 chr8 10584169 10584169 C T rs769113063 SOX7 Synonymous SNV S82S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.65 199068 chr6 139564158 139564158 G A rs200959785 TXLNB Synonymous SNV S520S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.116 199069 chr8 124109545 124109545 G C rs201820963 TBC1D31 Nonsynonymous SNV G127A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.53 199070 chr19 19010499 19010499 G C COPE Nonsynonymous SNV P255A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 14.67 199071 chr19 20117306 20117306 A G rs762638445 ZNF682 Synonymous SNV H303H 0.003 0.008 0 0 3 3 0 0 0 0 0 0 0.175 199072 chr7 21956388 21956388 A G CDCA7L Nonsynonymous SNV L50P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 199073 chr5 145531506 145531506 C T rs996375479 LARS1 Synonymous SNV E402E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.69 199074 chr5 14609024 14609024 C A rs114359288 OTULINL Synonymous SNV P265P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.63 199075 chr3 58516344 58516344 C T rs149888394 ACOX2 Nonsynonymous SNV V281I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 199076 chr4 57907014 57907014 C A IGFBP7 Synonymous SNV P187P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 199077 chr5 148386475 148386475 C T rs145390629 SH3TC2 Nonsynonymous SNV R1215H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.9 199078 chr7 27134980 27134980 G T rs768265195 HOXA1 Nonsynonymous SNV H184Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 199079 chr17 32905928 32905928 C T rs750223472 C17orf102 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.87 199080 chr8 124821254 124821254 G A rs202060408 FAM91A1 Synonymous SNV E511E 0.003 0 0.003 0 3 0 0 1 0 0 0 0 12.19 199081 chr7 27285825 27285825 C G rs779144087 EVX1 Synonymous SNV P153P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.09 199082 chr7 2752065 2752065 G A rs61742582 AMZ1 Nonsynonymous SNV G294R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.098 199083 chr7 29438080 29438080 G T CHN2 Stop gain G55X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 199084 chr7 29548931 29548931 G T CHN2 Nonsynonymous SNV D174Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 199085 chr7 30118247 30118247 C T rs374610561 PLEKHA8 Synonymous SNV A468A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 199086 chr3 97595166 97595166 G A rs373493174 CRYBG3 Nonsynonymous SNV V1710I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.294 199087 chr17 36493058 36493058 C T rs201799941 GPR179 Nonsynonymous SNV G344R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18 199088 chr5 150947571 150947571 G A rs370670557 FAT2 Nonsynonymous SNV R308W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 199089 chr4 74321009 74321009 T C rs182003350 AFP 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.6 199090 chr4 74459185 74459185 G A RASSF6 Synonymous SNV D78D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.254 199091 chr7 33380556 33380556 G A rs61764067 BBS9 Nonsynonymous SNV V294M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 5.374 199092 chr7 40899987 40899987 C T rs192063213 SUGCT Nonsynonymous SNV T368M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.06 199093 chr5 167674846 167674846 G A rs372010493 TENM2 Nonsynonymous SNV R2062H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 199094 chr17 39346829 39346829 C T rs1040724741 KRTAP9-1 Nonsynonymous SNV R231C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.12 199095 chr8 143809229 143809229 G C THEM6 Synonymous SNV L155L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.834 199096 chr5 169230163 169230163 G A rs199862297 DOCK2 Nonsynonymous SNV V886I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 8.182 199097 chr1 47834155 47834155 A G rs377653530 CMPK1 Synonymous SNV T30T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.959 199098 chr4 84519294 84519294 G A rs749145454 GPAT3 Nonsynonymous SNV V363I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 199099 chr6 17706484 17706484 C G rs564240997 LOC105374952 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.244 199100 chr8 17942210 17942210 A G rs142924828 ASAH1 Nonsynonymous SNV F34S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.644 199101 chr6 18399809 18399809 A G rs36005166 RNF144B Nonsynonymous SNV E15G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.71 199102 chr19 39914556 39914556 C T rs746541218 PLEKHG2 Nonsynonymous SNV P869L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.063 199103 chr1 61872311 61872311 G A rs138132492 NFIA Synonymous SNV P444P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.16 199104 chr8 145101693 145101693 C T rs144310542 SPATC1 Nonsynonymous SNV R538C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 199105 chr2 138722182 138722182 C G HNMT Nonsynonymous SNV P41A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 199106 chr4 139101829 139101829 C T rs140100905 SLC7A11 Nonsynonymous SNV R411Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 199107 chr8 145223339 145223339 A G rs761668175 MROH1 Nonsynonymous SNV D55G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.17 199108 chr4 140811386 140811386 C T rs751507608 MAML3 Nonsynonymous SNV A402T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.401 199109 chr17 42961041 42961041 A G rs1029813995 EFTUD2 Synonymous SNV L99L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.09 199110 chr5 109220531 109220531 C T LINC01848 0 0 0.003 0 0 0 0 1 0 0 0 0 3.961 199111 chr17 43012248 43012248 C T rs150295111 KIF18B Nonsynonymous SNV R176H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 199112 chr17 46627723 46627723 T C rs567422189 HOXB3 Synonymous SNV Q423Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.4 199113 chr8 27364502 27364502 C T rs199740457 EPHX2 Synonymous SNV T151T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.74 199114 chr8 18658844 18658844 C T rs369816180 PSD3 Synonymous SNV E119E 0.006 0.003 0 2 7 1 0.005 0 0 0 0 0 15.06 199115 chr5 132099516 132099516 C T rs962313831 SEPTIN8 Nonsynonymous SNV R139H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 199116 chr4 1697978 1697978 G A rs778720683 SLBP Synonymous SNV L159L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 199117 chr17 56056605 56056622 TGCTGCTGCTGCTGCTGC - VEZF1 Q349_Q354del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 199118 chr7 95040996 95040996 G A rs116397066 PON2 Synonymous SNV L155L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.846 199119 chr17 59477677 59477677 C A rs753823876 TBX2 Nonsynonymous SNV A47E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 31 199120 chr4 184241155 184241155 A G rs999612589 CLDN22 Synonymous SNV L73L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.385 199121 chr17 59560566 59560566 C T rs149248181 TBX4 Nonsynonymous SNV P443S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.23 199122 chr17 61488918 61488918 C T TANC2 Synonymous SNV S1138S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.83 199123 chr5 64905111 64905111 C A rs772644025 TRIM23 Nonsynonymous SNV V335F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 199124 chr5 65350412 65350412 G T rs35601230 ERBIN Nonsynonymous SNV G1089V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 18.15 199125 chr5 140794320 140794320 T G rs10041534 PCDHGA10 Stop gain Y526X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 199126 chr8 81399898 81399898 G C rs201412661 ZBTB10 Nonsynonymous SNV V285L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.19 199127 chr5 141024240 141024240 G A rs367603306 FCHSD1 Synonymous SNV G514G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 199128 chr8 10466937 10466937 C A rs150438402 RP1L1 Synonymous SNV A1557A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 199129 chr5 70809074 70809074 G C rs201608641 BDP1 Nonsynonymous SNV R1437P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 199130 chr5 73109449 73109449 G A rs981378727 ARHGEF28 Synonymous SNV S12S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.42 199131 chr8 117783982 117783982 A G rs138695873 UTP23 Synonymous SNV T217T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.107 199132 chr17 71739220 71739220 C T rs758458151 LOC100134391 0.002 0.008 0 0 2 3 0 0 0 0 0 0 6.63 199133 chr17 72560060 72560060 G A CD300H, LOC100130520 Nonsynonymous SNV S139L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.117 199134 chr4 3520691 3520691 C T rs760626933 LRPAP1 Nonsynonymous SNV E167K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 199135 chr5 151202370 151202370 C T rs199561280 GLRA1 Nonsynonymous SNV R322Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 199136 chr8 13251131 13251131 A T rs141187962 DLC1 Synonymous SNV S415S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 199137 chr5 156945833 156945833 C G rs201661633 ADAM19 Nonsynonymous SNV E222Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 199138 chr5 160018134 160018134 A G rs767977506 ATP10B Nonsynonymous SNV S1193P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 199139 chr8 75757724 75757724 T C rs199756673 PI15 Synonymous SNV Y211Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.573 199140 chr8 77764102 77764102 A T rs371012847 ZFHX4 Nonsynonymous SNV M1649L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.244 199141 chr4 4322480 4322480 C T rs188376735 ZBTB49 Nonsynonymous SNV R579W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 199142 chr19 51883474 51883474 C T rs375797744 LIM2 Nonsynonymous SNV R168H 0 0.008 0 0 0 3 0 0 0 0 0 0 34 199143 chr8 142367954 142367954 G A rs199724410 GPR20 Nonsynonymous SNV R24W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.81 199144 chr8 94798541 94798541 G C rs375991767 TMEM67 Nonsynonymous SNV R460T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.18 199145 chr5 93386507 93386507 C T FAM172A Nonsynonymous SNV E34K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 199146 chr5 175110567 175110567 A G HRH2 Nonsynonymous SNV M111V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 199147 chr8 144620210 144620210 T C rs114795889 ZC3H3 Nonsynonymous SNV S443G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 199148 chr17 76921104 76921104 G A rs1031019474 TIMP2 Nonsynonymous SNV P23S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.883 199149 chr5 96077037 96077037 C G rs200169373 CAST Nonsynonymous SNV A192G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.256 199150 chr8 99215397 99215397 G T NIPAL2 Stop gain Y273X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 37 199151 chr6 87969340 87969340 C T rs189808859 ZNF292 Nonsynonymous SNV P1998L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.91 199152 chr8 144776396 144776396 A G rs376405410 ZNF707 Nonsynonymous SNV Q235R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 7.457 199153 chr6 88119611 88119611 A C rs145432848 CFAP206 Synonymous SNV G18G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.132 199154 chr8 144941903 144941903 G A rs79961029 EPPK1 Nonsynonymous SNV T1840M 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.089 199155 chr5 179125590 179125590 C T rs146225762 CANX Nonsynonymous SNV P30S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.873 199156 chr17 78897383 78897383 G A rs199647030 RPTOR Synonymous SNV P748P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.046 199157 chr9 101777744 101777744 G A rs145891402 COL15A1 Nonsynonymous SNV E467K 0.003 0 0 0 3 0 0 0 0 0 0 0 7.375 199158 chr4 619721 619721 C T rs201939549 PDE6B Synonymous SNV G102G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.03 199159 chr9 104187158 104187158 C T rs149166711 ALDOB Synonymous SNV E322E 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.72 199160 chr8 144997750 144997750 C T rs369095717 PLEC Nonsynonymous SNV R2102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 199161 chr9 128099823 128099823 C T rs146957648 GAPVD1 Nonsynonymous SNV P923S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22 199162 chr4 6925270 6925270 C T rs144981670 TBC1D14 Nonsynonymous SNV L52F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.307 199163 chr9 109687678 109687678 A G rs141501264 ZNF462 Synonymous SNV T495T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.421 199164 chr8 145732114 145732114 G C rs141505249 GPT Nonsynonymous SNV E430Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.42 199165 chr8 145732180 145732180 G C rs147998249 GPT Nonsynonymous SNV V452L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.3 199166 chr4 73990704 73990704 C T ANKRD17 Nonsynonymous SNV A889T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 199167 chr4 74357674 74357674 G A rs780697944 AFM Nonsynonymous SNV R310H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 199168 chr19 55817694 55817694 C T rs200320831 BRSK1 Synonymous SNV S655S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 17.62 199169 chr6 129612830 129612830 G A LAMA2 Nonsynonymous SNV A941T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 199170 chr5 60060128 60060128 T C ELOVL7 Nonsynonymous SNV Q142R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 199171 chr9 123779926 123779926 G C rs147226792 C5 Nonsynonymous SNV L577V 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Uncertain significance 25.2 199172 chr9 124584921 124584921 G T rs769902746 TTLL11 Nonsynonymous SNV P783Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.901 199173 chr19 56934659 56934659 T C rs748142208 ZNF583 Nonsynonymous SNV L211P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.86 199174 chr9 136333761 136333761 G A CACFD1 Stop gain W168X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 199175 chr5 70927995 70927995 T G rs1041557611 MCCC2 Synonymous SNV G224G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.4 199176 chr8 25199988 25199988 C T rs149776324 DOCK5 Nonsynonymous SNV T861I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 199177 chr5 74892704 74892704 C T rs920957277 POLK Nonsynonymous SNV S663F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 199178 chr6 15468783 15468783 G C JARID2 Synonymous SNV A168A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 199179 chr19 58773384 58773384 A T rs201956769 ZNF544 Nonsynonymous SNV K443M 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.7 199180 chr6 155749987 155749987 C T rs765454525 NOX3 Synonymous SNV A362A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.381 199181 chr6 158516906 158516906 C T rs751365757 SYNJ2 Nonsynonymous SNV P1097L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 199182 chr19 59080710 59080710 C T rs201976128 MZF1 Nonsynonymous SNV G236S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 3.683 199183 chr5 1053522 1053522 C G rs142760877 SLC12A7 Synonymous SNV A1034A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.081 199184 chr18 43668135 43668135 C T rs370646735 ATP5F1A Nonsynonymous SNV V197I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.9 199185 chr6 160455479 160455479 T C IGF2R Nonsynonymous SNV Y414H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 199186 chr5 94230504 94230504 C T rs760827846 MCTP1 Synonymous SNV Q296Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 199187 chr5 9549178 9549178 A G rs907652 SNHG18 0 0 0.017 0 0 0 0 5 0 0 0 0 2.139 199188 chr5 114469836 114469836 C T rs147215007 TRIM36 Nonsynonymous SNV V264M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.6 199189 chr6 162683689 162683689 C T PRKN Nonsynonymous SNV G94S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.608 199190 chr5 98229254 98229254 T C CHD1 Synonymous SNV L619L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.609 199191 chr6 10430230 10430231 GG - LINC00518 0 0 0.003 0 0 0 0 1 0 0 0 0 199192 chr6 10430240 10430257 CCAGTAATTACATAAGGT - LINC00518 0 0 0.003 0 0 0 0 1 0 0 0 0 199193 chr9 135985700 135985700 C T rs143388456 RALGDS Synonymous SNV L102L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.63 199194 chr5 131055104 131055104 G A rs747723482 FNIP1 Nonsynonymous SNV R76W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 199195 chr5 131543466 131543466 C T rs148040234 P4HA2 Nonsynonymous SNV V339I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 199196 chr20 3846357 3846357 G A rs45529136 MAVS Nonsynonymous SNV G255S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 18.82 199197 chr8 79652310 79652310 A G rs760588297 IL7 Nonsynonymous SNV M52T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 199198 chr8 82598132 82598132 G A rs925742919 IMPA1 Nonsynonymous SNV P7S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 199199 chr2 242423711 242423711 C T rs200700734 FARP2 Nonsynonymous SNV R796W 0 0 0 3 0 0 0.008 0 0 0 0 0 34 199200 chr5 137717254 137717254 T C rs111526688 KDM3B Nonsynonymous SNV M252T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.457 199201 chr9 138837824 138837824 C G rs989874123 UBAC1 Nonsynonymous SNV E188D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.37 199202 chr5 140076173 140076173 G A HARS2 Nonsynonymous SNV R123Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 199203 chr6 128134117 128134117 G A THEMIS Nonsynonymous SNV P557S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 199204 chr9 100092716 100092716 C G rs147100303 CCDC180 Synonymous SNV A691A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.416 199205 chr6 28297279 28297279 C T rs148156232 ZSCAN31 Nonsynonymous SNV R61Q 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 23.2 199206 chr9 139908438 139908438 G A rs144831765 ABCA2 Synonymous SNV D1431D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.125 199207 chr9 139908732 139908732 C T rs201737470 ABCA2 Synonymous SNV A1376A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Likely benign 15.9 199208 chr9 1056404 1056404 C T rs775052048 DMRT2 Nonsynonymous SNV R99C 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 199209 chr9 139972219 139972219 G T rs4073310 UAP1L1 Nonsynonymous SNV V79L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 199210 chr9 79936140 79936140 A G rs144290291 VPS13A Nonsynonymous SNV Y1785C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 199211 chr1 210761365 210761365 A G rs35867665 HHAT Synonymous SNV A252A 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 Benign 11.1 199212 chr9 86284199 86284199 T C rs145856007 UBQLN1 Synonymous SNV Q383Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 2.77 199213 chr1 212254046 212254046 G A rs141132068 DTL Synonymous SNV T134T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 12.55 199214 chr7 149544991 149544991 C T rs573806805 ZNF862 Nonsynonymous SNV R137W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 199215 chr9 111663806 111663806 G A rs144370288 ELP1 Nonsynonymous SNV A289V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 199216 chr6 150715308 150715308 G A rs146905706 IYD Nonsynonymous SNV A202T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.684 199217 chr19 1433762 1433762 C T rs747983776 DAZAP1 Nonsynonymous SNV P358L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.6 199218 chr9 18928540 18928540 G A rs115762023 SAXO1 Nonsynonymous SNV T247I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 199219 chr19 2210434 2210434 C T rs375593817 DOT1L Synonymous SNV R347R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.86 199220 chr19 2733188 2733188 C T rs140376410 SLC39A3 Nonsynonymous SNV R169H 0.002 0.005 0.003 1 2 2 0.003 1 0 1 0 0 Benign 25.8 199221 chr6 158613112 158613112 G A rs139277280 GTF2H5 Nonsynonymous SNV A47T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 199222 chr9 27055685 27055685 A C rs749597224 IFT74 Nonsynonymous SNV K471T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 199223 chr9 27548276 27548276 G A rs141063383 C9orf72 Synonymous SNV F468F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 13.48 199224 chr7 19156669 19156686 GCCGCCGCCGCCGCCCGC - rs544465774 TWIST1 A87_G92del 0.002 0 0 0 2 0 0 0 0 0 0 0 199225 chr9 33311139 33311139 C T rs149591764 NFX1 Nonsynonymous SNV A471V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.8 199226 chr7 20739697 20739697 G C rs199902639 ABCB5 Nonsynonymous SNV R314T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.29 199227 chr5 154395197 154395197 A G KIF4B Nonsynonymous SNV K593R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 199228 chrX 119693637 119693637 C T rs113213082 CUL4B Nonsynonymous SNV A7T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 15.43 199229 chrX 123034435 123034435 C A XIAP Nonsynonymous SNV Q398K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 199230 chr6 43497008 43497008 C T rs111715773 POLR1C Nonsynonymous SNV A315V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.44 199231 chr6 43497088 43497088 - T rs143794012 POLR1C Frameshift insertion G342Vfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 199232 chr6 168227203 168227222 GATCCAGCACCGCCCATTTG - rs369645489 AFDN-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 199233 chr6 168303057 168303057 G A rs116318091 AFDN Synonymous SNV P531P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 199234 chr1 228503557 228503557 C T rs754227701 OBSCN Nonsynonymous SNV T4341M 0 0.005 0 0 0 2 0 0 0 0 0 0 24.7 199235 chrX 135318500 135318500 T C rs368226402 MAP7D3 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 199236 chr9 12698527 12698527 C T rs61752939 TYRP1 Nonsynonymous SNV T262M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 29.7 199237 chr1 230907829 230907829 G A rs143186556 CAPN9 Nonsynonymous SNV G224R 0 0.008 0 0 0 3 0 0 0 0 0 0 35 199238 chr9 5126396 5126396 C T rs377212884 JAK2 Nonsynonymous SNV L932F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 199239 chr5 167420039 167420039 G A rs200992047 TENM2 Synonymous SNV T155T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 199240 chr19 4683303 4683303 G A rs751839975 DPP9-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.52 199241 chr1 231133014 231133014 G A rs200114138 ARV1 0.002 0.008 0 0 2 3 0 0 0 0 0 0 24.4 199242 chr6 20124710 20124710 G A rs146228602 MBOAT1 Nonsynonymous SNV P279L 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 6.032 199243 chrX 140993948 140994052 CTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCC - MAGEC1 A264_F298del 0.006 0 0.007 3 7 0 0.008 2 1 0 1 1 199244 chr6 24448111 24448111 C T rs146993893 GPLD1 Nonsynonymous SNV D558N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 199245 chr6 49459871 49459871 G A rs141091085 CENPQ Synonymous SNV A230A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.239 199246 chr6 51909846 51909846 G A PKHD1 Nonsynonymous SNV A878V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 199247 chr19 7535026 7535026 G A rs9329369 ARHGEF18 Nonsynonymous SNV A1068T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 21.5 199248 chr6 26392911 26392911 C G rs199832316 BTN2A2 Nonsynonymous SNV L220V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 199249 chr6 26426514 26426514 G A rs370627772 BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.484 199250 chr6 53743810 53743810 A G LRRC1 Synonymous SNV E99E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.418 199251 chr9 133507637 133507637 G A rs748914678 FUBP3 Synonymous SNV A494A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 199252 chr19 7734317 7734317 C T rs35139946 RETN Synonymous SNV V35V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.43 199253 chr5 178358688 178358688 C A ZFP2 Nonsynonymous SNV T125N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 199254 chr9 133932472 133932472 G A rs61737720 LAMC3 Nonsynonymous SNV G699D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.1 199255 chr5 179136963 179136963 C T rs142118147 CANX Synonymous SNV H98H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 199256 chr5 179291054 179291054 G A rs767826736 TBC1D9B Synonymous SNV H1032H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.796 199257 chr6 65300723 65300723 C A rs761298139 EYS Nonsynonymous SNV M1679I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.73 199258 chr6 656637 656637 T A rs772657334 HUS1B Nonsynonymous SNV Q103L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.4 199259 chr9 97912337 97912337 C T rs370346767 FANCC Nonsynonymous SNV R185Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.82 199260 chr9 136513037 136513037 T C rs200103371 DBH Nonsynonymous SNV M365T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 199261 chr9 137801823 137801823 A G rs150625869 FCN1 Nonsynonymous SNV S268P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 6.432 199262 chrX 103495209 103495209 C T rs184828935 ESX1 Synonymous SNV P307P 0.005 0 0.003 0 6 0 0 1 2 0 0 0 8.581 199263 chrX 105011639 105011639 C T rs370658459 IL1RAPL2 Synonymous SNV T682T 0.004 0 0.003 0 5 0 0 1 1 0 0 0 6.426 199264 chr6 35715362 35715362 G A rs148836342 ARMC12 Nonsynonymous SNV V210I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.63 199265 chr6 36689709 36689709 C G rs182774229 RAB44 Nonsynonymous SNV P600A 0.001 0 0.014 0 1 0 0 4 0 0 1 0 10.78 199266 chr9 139399842 139399842 G A rs751191827 NOTCH1 Synonymous SNV D1502D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.101 199267 chr1 248487481 248487481 T C rs139049514 OR2M7 Synonymous SNV L130L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.015 199268 chr6 38957817 38957817 G A rs143472136 DNAH8 Synonymous SNV P4144P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.02 199269 chr6 39563971 39563971 T A rs765757861 KIF6 Nonsynonymous SNV E235D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.5 199270 chr6 90089009 90089009 G A rs778081535 RRAGD Synonymous SNV S231S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 199271 chrX 141291563 141291565 CCT - rs754816859 MAGEC2 E70del 0.004 0.01 0.003 0 5 4 0 1 1 1 0 0 199272 chrX 99852617 99852617 C T rs765377253 TNMD Synonymous SNV N180N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 199273 chr6 96996126 96996126 T A UFL1 Nonsynonymous SNV F497I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.06 199274 chr5 52405755 52405755 C T rs891559882 LOC257396 0.001 0 0 0 1 0 0 0 0 0 0 0 8.379 199275 chr9 140354851 140354851 - TCCTGGTCAGAGGAGCCC rs750364359 PNPLA7 Q1315_D1316insEGSSDQ 0.001 0 0 0 1 0 0 0 0 0 0 0 199276 chr9 140672408 140672408 C T rs371829525 EHMT1 Nonsynonymous SNV P667L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.374 199277 chr21 37650530 37650530 G A rs779745458 DOP1B Nonsynonymous SNV R1949Q 0 0.008 0 0 0 3 0 0 0 0 0 0 34 199278 chr5 54572097 54572097 A G rs145226459 DHX29 Synonymous SNV Y757Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.866 199279 chr19 9959855 9959855 A C PIN1 Nonsynonymous SNV I158L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.14 199280 chr9 15571741 15571741 C A rs753823195 CCDC171 Nonsynonymous SNV T54N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 199281 chr9 18721587 18721589 GAG - ADAMTSL1 E645del 0.002 0 0 0 2 0 0 0 0 0 0 0 199282 chr19 10224845 10224845 G A rs145284058 P2RY11, PPAN-P2RY11 Nonsynonymous SNV E186K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.9 199283 chr10 104613983 104613983 T G BORCS7-ASMT 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.058 199284 chr5 61772530 61772530 A G rs35107530 IPO11 Nonsynonymous SNV N300D 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 14.25 199285 chr5 65440360 65440360 C A rs772307778 SREK1 Synonymous SNV P52P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 199286 chr6 51777216 51777216 C T PKHD1 Nonsynonymous SNV V2094I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.378 199287 chr5 66459603 66459623 GAAGGCCAAGGTGGTGGTGAA - rs760909198 MAST4 K1274_A1280del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 199288 chr2 20824605 20824605 G A rs144429298 HS1BP3 Nonsynonymous SNV P224L 0.007 0.01 0.007 2 8 4 0.005 2 0 0 0 0 Uncertain significance 24.9 199289 chr19 11283773 11283773 G A rs143339573 KANK2 Nonsynonymous SNV R707C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 199290 chr9 33113812 33113812 G A B4GALT1 Nonsynonymous SNV R342C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 199291 chr7 92116847 92116847 C G PEX1 Nonsynonymous SNV S1202T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.47 199292 chr5 70811997 70811997 G A rs200783794 BDP1 Nonsynonymous SNV G1587R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 1.187 199293 chr19 12223704 12223704 T C rs761346138 ZNF788P Nonsynonymous SNV C448R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 199294 chr5 71519657 71519657 C A rs762871981 MRPS27 Synonymous SNV V230V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 199295 chr9 36091296 36091296 G T RECK Nonsynonymous SNV Q347H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 199296 chr6 74121958 74121958 C T rs138958030 DDX43 Synonymous SNV L437L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.71 199297 chr19 14578428 14578428 G T PKN1 Stop gain E595X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 39 199298 chr6 75833103 75833103 C A COL12A1 Nonsynonymous SNV A1133S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 199299 chr5 78936932 78936932 C T TENT2 Synonymous SNV S195S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 199300 chr6 8090473 8090473 C T rs143767334 EEF1E1 Synonymous SNV G110G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.52 199301 chr5 79089347 79089347 C T rs148082008 CMYA5 Synonymous SNV L3959L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.73 199302 chr6 84772624 84772624 T C rs79682316 MRAP2 Nonsynonymous SNV I47T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 199303 chr6 87967203 87967203 - T ZNF292 Frameshift insertion S1288Ffs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 199304 chr3 130293151 130293151 C T rs758826093 COL6A6 Nonsynonymous SNV T1110I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.7 199305 chr6 90660390 90660390 C T rs140620174 BACH2 Nonsynonymous SNV A479T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 10.62 199306 chr9 78947475 78947475 G A rs776978290 PCSK5 Nonsynonymous SNV R1539Q 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 8.144 199307 chr6 96985257 96985257 T G rs199627983 UFL1 Nonsynonymous SNV D270E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 199308 chr6 97621033 97621033 G A rs139062728 MMS22L Synonymous SNV S632S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.76 199309 chr7 1040122 1040122 A G rs752764633 C7orf50 Nonsynonymous SNV M130T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 199310 chr7 105655646 105655646 C A CDHR3 Synonymous SNV P350P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.54 199311 chr22 22048114 22048114 G A rs34861942 PPIL2 Synonymous SNV T383T 0 0.008 0 0 0 3 0 0 0 0 0 0 12.58 199312 chr22 22279958 22279958 G T rs60327076 PPM1F Synonymous SNV A323A 0 0.008 0 0 0 3 0 0 0 0 0 0 Benign 12.11 199313 chr10 128193579 128193579 T C rs75904847 C10orf90 Nonsynonymous SNV R64G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 199314 chr7 1097840 1097840 C T rs769940831 GPR146 Nonsynonymous SNV S230L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 199315 chr22 22869129 22869129 G A rs16989015 ZNF280A Nonsynonymous SNV L276F 0.003 0.008 0 0 3 3 0 0 0 0 0 0 23.1 199316 chr7 1131811 1131811 C G rs765002379 GPER1 Synonymous SNV T149T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.071 199317 chr9 95237025 95237048 TCATCATCATCATCATCATCATCA - ASPN D44_D50del 0.002 0 0 0 2 0 0 0 0 0 0 0 199318 chr9 95237048 95237048 - TCA ASPN D50_E51insD 0.001 0 0 0 1 0 0 0 0 0 0 0 199319 chr10 129864450 129864450 A C PTPRE Nonsynonymous SNV I59L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 8.222 199320 chr7 116339238 116339238 G A rs764246939 MET Nonsynonymous SNV E34K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.009 199321 chr22 25263061 25263061 G A rs375323027 SGSM1 Nonsynonymous SNV V310I 0.001 0.008 0 0 1 3 0 0 0 0 0 0 22.8 199322 chr8 125033854 125033854 A G FER1L6 Nonsynonymous SNV E693G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 199323 chr7 122377087 122377087 C G CADPS2 Synonymous SNV R125R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 199324 chr19 17741002 17741002 C T UNC13A Synonymous SNV E1207E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.06 199325 chr2 62081141 62081141 G A rs754725458 FAM161A Synonymous SNV A12A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6 199326 chrX 129271132 129271132 T C rs12007545 AIFM1 Synonymous SNV Q332Q 0.002 0 0.007 3 2 0 0.008 2 0 0 1 1 Benign 0.303 199327 chrX 129272617 129272617 G A rs12014115 AIFM1 Synonymous SNV I306I 0.002 0 0.014 3 2 0 0.008 4 0 0 1 1 Benign 13.14 199328 chr6 112390547 112390547 C G CCN6 Synonymous SNV P263P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.796 199329 chr22 33712102 33712102 C T rs150861748 LARGE1 Nonsynonymous SNV V474I 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Uncertain significance 23 199330 chr10 16981035 16981035 G A rs781159315 CUBN Nonsynonymous SNV S1887F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 199331 chr7 105656384 105656384 G A rs193279079 CDHR3 Nonsynonymous SNV V359I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.061 199332 chr7 138305822 138305822 A T rs199794073 SVOPL Nonsynonymous SNV I289N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 199333 chrX 142717443 142717443 G A rs147741797 SLITRK4 Synonymous SNV S494S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.11 199334 chrX 142718628 142718628 C T rs142360999 SLITRK4 Synonymous SNV E99E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.665 199335 chrX 148585823 148585823 T C rs144081417 IDS Nonsynonymous SNV D35G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.884 199336 chrX 150348569 150348569 G A rs374353730 GPR50 Nonsynonymous SNV D172N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 199337 chr7 116599288 116599288 C T rs145338255 ST7-OT4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 199338 chr6 126661576 126661576 - G rs769794204 CENPW Frameshift insertion T55Hfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 199339 chr22 38333097 38333097 G A MICALL1 Stop gain W773X 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 45 199340 chr6 130465749 130465749 C T rs201261473 SAMD3 Synonymous SNV T517T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 199341 chr22 41075615 41075615 A T rs146834583 MCHR1 Nonsynonymous SNV S56C 0.003 0.01 0.007 1 4 4 0.003 2 0 0 0 0 3.253 199342 chrX 27839786 27839786 C T rs748740202 MAGEB10 Synonymous SNV Y121Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.139 199343 chr7 130418334 130418334 G C rs782720640 KLF14 Nonsynonymous SNV A176G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.025 199344 chrX 3021917 3021917 T C ARSF Nonsynonymous SNV I406T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 199345 chr22 46125438 46125438 A G rs201298547 ATXN10 Nonsynonymous SNV K224E 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 12.38 199346 chrX 32408274 32408274 G A DMD Nonsynonymous SNV H79Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 199347 chr19 38865366 38865366 G T rs761893057 PSMD8 Nonsynonymous SNV R42L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 199348 chrX 45017019 45017019 G T DIPK2B Nonsynonymous SNV R205S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 199349 chrX 46917619 46917619 A G rs370737469 JADE3 Nonsynonymous SNV R538G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 199350 chrX 48419133 48419133 C T rs781832445 TBC1D25 Nonsynonymous SNV R629W 0.001 0.005 0 0 1 2 0 0 0 1 0 0 21.1 199351 chr10 49440329 49440329 T C rs144770940 FRMPD2 Nonsynonymous SNV K309E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.9 199352 chr6 151907196 151907196 G A rs775579048 CCDC170 Nonsynonymous SNV R422Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.59 199353 chr6 152163757 152163757 G T rs149308960 ESR1 Nonsynonymous SNV G160C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 25.1 199354 chr7 141418906 141418906 G A WEE2 Nonsynonymous SNV R207H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 199355 chr7 141860961 141860961 C T rs540833021 MGAM2 Synonymous SNV D794D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 199356 chr10 30315113 30315113 T C JCAD Nonsynonymous SNV K1322E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.641 199357 chr7 143088732 143088732 C G rs146015036 EPHA1 Nonsynonymous SNV V945L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 199358 chr19 41930461 41930461 G A rs143065803 BCKDHA Nonsynonymous SNV R429H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 199359 chr3 3139910 3139910 T C rs141948767 IL5RA Synonymous SNV S144S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 0.026 199360 chrX 9841717 9841717 C T rs771024837 SHROOM2 Nonsynonymous SNV A64V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 199361 chrX 99661871 99661871 G A rs200471732 PCDH19 Synonymous SNV V575V 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign/Likely benign 0.2 199362 chr10 62023641 62023641 G A rs368367870 ANK3 Synonymous SNV A200A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 199363 chr10 102775567 102775567 G A rs761231526 PDZD7 Synonymous SNV D525D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 199364 chr7 2689608 2689608 C T rs757704779 TTYH3 Nonsynonymous SNV S286L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 199365 chr7 151504690 151504690 G A rs148204660 LOC644090 Nonsynonymous SNV R125H 0 0 0.01 0 0 0 0 3 0 0 0 0 7.443 199366 chr10 103900889 103900889 T C rs149017426 PPRC1 Nonsynonymous SNV M875T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 199367 chrX 67283941 67283941 A C rs745376525 OPHN1 Nonsynonymous SNV L638R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.904 199368 chr19 44514437 44514437 G A rs150544790 ZNF230 Synonymous SNV A82A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.54 199369 chr10 104828433 104828433 G A rs755761869 CNNM2 Synonymous SNV A707A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.07 199370 chr7 157449191 157449191 G A rs180827256 PTPRN2 Nonsynonymous SNV P647L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.6 199371 chr7 31104520 31104520 A G rs144472289 ADCYAP1R1 Nonsynonymous SNV N42S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.43 199372 chr7 31592719 31592719 C T rs147399119 ITPRID1 Synonymous SNV T27T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.425 199373 chr10 73111546 73111546 G A SLC29A3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 199374 chr8 43147893 43147893 G T rs201692750 POTEA Nonsynonymous SNV G89V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.17 199375 chr10 73501474 73501474 G C CDH23 Synonymous SNV V1547V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 199376 chr7 40535975 40535975 C T SUGCT Nonsynonymous SNV A319V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 199377 chr6 26056286 26056286 C G rs12111009 H1-2 Nonsynonymous SNV G124A 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.236 199378 chr10 860970 860970 A G rs61731095 LARP4B Nonsynonymous SNV V579A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 199379 chr3 47282411 47282411 T A rs1056052948 KIF9 Nonsynonymous SNV I537F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 29.6 199380 chr10 118424435 118424435 G A rs145415319 C10orf82 Nonsynonymous SNV L100F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 199381 chr10 118666210 118666210 G T rs187306103 SHTN1 Nonsynonymous SNV P410T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.44 199382 chr6 27101054 27101054 C T rs55867104 HIST1H2AG Synonymous SNV G68G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.39 199383 chr10 118969769 118969769 T C rs143365824 KCNK18 Nonsynonymous SNV F372L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.03 199384 chr7 30492190 30492190 G A rs5743341 NOD1 Synonymous SNV F281F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.861 199385 chr6 27925138 27925138 T C rs144218246 OR2B6 Synonymous SNV F40F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 199386 chr7 30825603 30825603 C T rs73685795 MINDY4 Nonsynonymous SNV P220S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.865 199387 chr3 49049668 49049668 G A rs141461297 WDR6 Nonsynonymous SNV R208H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 28.3 199388 chr7 36194322 36194322 C T rs758262436 EEPD1 Nonsynonymous SNV A130V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 199389 chr3 49712668 49712668 A G rs141512953 APEH Synonymous SNV Q66Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.738 199390 chr3 49760125 49760125 G A GMPPB Synonymous SNV R155R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 4.172 199391 chrX 150349148 150349148 G A rs374566932 GPR50 Nonsynonymous SNV V365I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.91 199392 chr3 51429780 51429780 A G rs369529068 RBM15B Nonsynonymous SNV Y317C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.6 199393 chr2 179439154 179439154 A G rs55837610 TTN Nonsynonymous SNV I14837T 0.006 0.005 0 5 7 2 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.49 199394 chr10 129874929 129874929 G C rs148469523 PTPRE Nonsynonymous SNV E334D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 199395 chr3 52255410 52255410 G A rs200718751 TLR9 Synonymous SNV D974D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.04 199396 chr6 36690251 36690251 G A RAB44 Synonymous SNV T780T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.79 199397 chr19 50411547 50411547 G A rs144664411 NUP62 Synonymous SNV C506C 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 Benign 8.723 199398 chr10 84745302 84745302 C T rs138936665 NRG3 Stop gain R678X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 42 199399 chr6 4125501 4125501 C T rs41302847 ECI2 Nonsynonymous SNV V230M 0.001 0 0 0 1 0 0 0 0 0 0 0 27 199400 chr7 53104180 53104180 G A rs184306248 POM121L12 Synonymous SNV T272T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 199401 chr7 6193762 6193762 G A rs115633720 USP42 Synonymous SNV P859P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.548 199402 chr19 52033179 52033179 G A rs200633036 SIGLEC6 Nonsynonymous SNV R219W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 199403 chr7 72988309 72988309 C T rs78529661 TBL2 Synonymous SNV E135E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 12.66 199404 chr1 3680362 3680362 C T rs146866117 CCDC27 Stop gain R472X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 199405 chr11 101863541 101863541 A G rs201785955 CEP126 Nonsynonymous SNV I1093V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 199406 chr10 22208802 22208802 A G rs147329297 DNAJC1 Synonymous SNV S198S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 0.076 199407 chr1 5993381 5993381 C T rs757711149 NPHP4 Synonymous SNV S376S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 199408 chr1 6204091 6204091 C T rs1007557168 CHD5 Nonsynonymous SNV G643S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 199409 chr10 27459466 27459466 A G MASTL Synonymous SNV P526P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.012 199410 chr6 52101829 52101829 C T rs764026426 IL17F Nonsynonymous SNV R131Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.8 199411 chr7 98785999 98785999 C T rs377664445 KPNA7 Nonsynonymous SNV R275H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 199412 chr19 53761754 53761754 C T rs146135043 VN1R2 Synonymous SNV F42F 0.002 0 0 0 2 0 0 0 1 0 0 0 10.27 199413 chr7 82581557 82581557 C T rs61995904 PCLO Synonymous SNV K2904K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.1 199414 chr7 82585517 82585517 C T rs370656832 PCLO Synonymous SNV E1584E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.142 199415 chr19 54485577 54485577 G T CACNG8 Nonsynonymous SNV G251V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.65 199416 chr7 87011489 87011489 C G CROT Nonsynonymous SNV L388V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 199417 chr7 88965036 88965036 A C rs59859857 ZNF804B Nonsynonymous SNV N914H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 6.001 199418 chr7 88965040 88965040 C T rs56948780 ZNF804B Nonsynonymous SNV T915I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.029 199419 chr11 111430953 111430953 C T rs573383457 LAYN Nonsynonymous SNV R154W 0.003 0 0 1 4 0 0.003 0 0 0 0 0 35 199420 chr11 111753191 111753191 A C rs11540721 C11orf1 Nonsynonymous SNV K49Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 25.8 199421 chr4 104079590 104079590 C T rs201196207 CENPE Nonsynonymous SNV R942Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.9 199422 chr6 7230369 7230369 C T RREB1 Synonymous SNV I679I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.52 199423 chr7 98254360 98254360 G A rs563276077 NPTX2 Nonsynonymous SNV R257Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 199424 chr19 55756544 55756544 C T rs62126345 PPP6R1 Nonsynonymous SNV E188K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 199425 chr1 15772126 15772126 A C rs201486613 CTRC Nonsynonymous SNV E225A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.032 199426 chr6 76554672 76554672 T C rs144038082 MYO6 Nonsynonymous SNV L292S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 15.07 199427 chr1 16246001 16246001 C T rs200005166 SPEN Nonsynonymous SNV P542S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 199428 chr19 56089547 56089547 G A rs754012439 ZNF579 Nonsynonymous SNV P487S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 199429 chr19 56089550 56089550 G A rs779042266 ZNF579 Nonsynonymous SNV P486S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.57 199430 chr1 16736098 16736098 C T rs372795026 SPATA21 Synonymous SNV A172A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.083 199431 chr8 104709427 104709427 A T rs769908030 RIMS2 Nonsynonymous SNV K97I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 199432 chr8 110418631 110418631 A G rs377204876 PKHD1L1 Synonymous SNV K579K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.652 199433 chr7 100193285 100193285 C T FBXO24 Stop gain Q376X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 199434 chr10 6019556 6019556 C T IL15RA Nonsynonymous SNV R2Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 199435 chr10 61412559 61412559 A C rs138607526 SLC16A9 Nonsynonymous SNV F414V 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Benign 17.63 199436 chr8 128960445 128960445 C T rs917899155 TMEM75 0 0 0.003 0 0 0 0 1 0 0 0 0 8.73 199437 chr19 58573011 58573011 C T ZNF135 Nonsynonymous SNV P45S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.42 199438 chr19 58755406 58755406 T C rs138031572 ZNF544 Nonsynonymous SNV M6T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 199439 chr1 23765292 23765292 C T rs41268117 ASAP3 Synonymous SNV T341T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.25 199440 chr11 124766945 124766945 C T rs138370967 ROBO4 Nonsynonymous SNV A95T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely pathogenic 6.415 199441 chr19 58945529 58945529 C G ZNF132 Nonsynonymous SNV E428Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 199442 chr8 142195314 142195314 C T rs543716705 DENND3 Synonymous SNV T1007T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 199443 chr4 169931155 169931155 A T rs141139186 CBR4 Nonsynonymous SNV L29Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 199444 chr8 144994166 144994166 G A rs782733657 PLEC Nonsynonymous SNV R3261C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.6 199445 chr8 144994197 144994197 C T rs781913512 PLEC Synonymous SNV A3250A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.87 199446 chr8 144994413 144994413 G A rs201460864 PLEC Synonymous SNV Y3178Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.572 199447 chr4 178361489 178361489 T C rs999695070 AGA Synonymous SNV V73V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.582 199448 chr20 3736256 3736256 - TGACCAGAAAGCTGCTGTCACTCTCCTGGGTGACCATGACCACCGAGTCATGCAGCTTCTCATCAA C20orf27 0.001 0 0 0 1 0 0 0 0 0 0 0 199449 chr10 85978962 85978962 T C CDHR1 Nonsynonymous SNV I723T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.032 199450 chr20 6759466 6759466 C T rs112449910 BMP2 Synonymous SNV D307D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.56 199451 chr7 105644994 105644994 T C CDHR3 Synonymous SNV L217L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.471 199452 chr10 90762858 90762858 T C rs9333296 FAS Synonymous SNV L35L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.03 199453 chr8 145616859 145616859 C T ADCK5 Nonsynonymous SNV A293V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.94 199454 chr11 18735534 18735534 C T rs373428403 IGSF22 Nonsynonymous SNV V654M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.78 199455 chr7 107545910 107545910 A T rs61749952 DLD Synonymous SNV I82I 0.003 0.008 0.007 0 3 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 2.181 199456 chr10 91177898 91177898 A G IFIT5 Synonymous SNV L314L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 199457 chr8 17581251 17581251 C T rs376574345 MTUS1 Synonymous SNV A793A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.92 199458 chr20 17956474 17956474 G A rs201465869 MGME1 Nonsynonymous SNV R140Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 199459 chr11 2334930 2334930 C T rs758973942 TSPAN32 Nonsynonymous SNV A134V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 199460 chr8 20054957 20054957 G T rs149880251 ATP6V1B2 Nonsynonymous SNV A14S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.4 199461 chr11 3038470 3038470 G A rs566543333 CARS1 Nonsynonymous SNV R512C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 199462 chr20 25259722 25259722 C T rs142521587 PYGB Synonymous SNV P343P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 15.06 199463 chr9 77684899 77684899 C T rs140000460 NMRK1 Nonsynonymous SNV A77T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 199464 chr20 30737529 30737529 C T rs149270834 TM9SF4 Synonymous SNV G332G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.13 199465 chr9 78973494 78973494 A T rs146929307 PCSK5 Nonsynonymous SNV I1747F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.56 199466 chr1 53544666 53544666 G A rs61999355 PODN Nonsynonymous SNV R495H 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 24.2 199467 chr7 138239456 138239456 C T rs147789598 TRIM24 Synonymous SNV I425I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 199468 chr11 3726550 3726550 C T rs746774406 NUP98 Nonsynonymous SNV V941I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.43 199469 chr20 43355756 43355756 C T rs139028569 CCN5 Nonsynonymous SNV P105L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.91 199470 chr8 33246640 33246640 T G rs201403575 FUT10 Synonymous SNV V351V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.097 199471 chr7 141478555 141478555 G C rs200554185 TAS2R4 Nonsynonymous SNV M89I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 199472 chr8 37623139 37623139 T C PLPBP Synonymous SNV F65F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.686 199473 chr20 45000288 45000288 G A rs142132720 ELMO2 Synonymous SNV I541I 0.004 0.008 0 2 5 3 0.005 0 0 0 0 0 12.79 199474 chr11 102987385 102987385 A G rs756550778 DYNC2H1 Synonymous SNV R236R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.81 199475 chr4 57834627 57834627 T C rs762024003 NOA1 Nonsynonymous SNV I524V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 199476 chr8 59511868 59511868 G A NSMAF Nonsynonymous SNV S534F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 199477 chr8 59522239 59522239 G A rs143811464 NSMAF Nonsynonymous SNV T235M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 199478 chr8 61654291 61654291 T C rs761225764 CHD7 Synonymous SNV S100S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.013 199479 chr8 72965951 72965951 T C rs200779164 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.187 199480 chr8 71069025 71069025 A G rs202233218 NCOA2 Synonymous SNV N371N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.155 199481 chr20 58514253 58514253 A C PPP1R3D Nonsynonymous SNV F245C 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 24.3 199482 chr8 76476256 76476256 A T rs148532560 HNF4G Nonsynonymous SNV Q431H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 15.42 199483 chr7 1514397 1514397 C T rs376092004 INTS1 Synonymous SNV A1860A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 199484 chr7 151478464 151478464 G T rs142482217 PRKAG2 Synonymous SNV G36G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.674 199485 chr8 86121408 86121408 A G rs897319422 E2F5 Nonsynonymous SNV N216S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.52 199486 chr11 116733006 116733006 A G rs778295060 SIK3 Nonsynonymous SNV I666T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 199487 chr11 118828867 118828867 C T rs45530531 UPK2 Nonsynonymous SNV T160M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 199488 chr11 11906079 11906079 C T rs760242388 USP47 Synonymous SNV N35N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 199489 chr9 104171870 104171870 C G rs147826896 ZNF189 Nonsynonymous SNV A593G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 199490 chr9 108246679 108246679 C G rs976330496 FSD1L Nonsynonymous SNV A129G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 199491 chr11 12262624 12262624 G C MICAL2 Nonsynonymous SNV C751S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 199492 chr7 26686003 26686003 A C LINC02860 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 199493 chr7 27140669 27140669 G T rs141931321 HOXA2 Synonymous SNV S269S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.017 199494 chr21 28315767 28315767 A G rs138711629 ADAMTS5 Nonsynonymous SNV I446T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 199495 chr9 113233861 113233861 G A rs371514355 SVEP1 Synonymous SNV P927P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 199496 chr4 96025586 96025586 G A rs150974461 BMPR1B Nonsynonymous SNV R4Q 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 199497 chr9 120475826 120475826 G A rs5030718 TLR4 Nonsynonymous SNV E274K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 199498 chr21 39795423 39795423 G C ERG Synonymous SNV T7T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.153 199499 chr5 112173978 112173978 C T rs864622255 APC Nonsynonymous SNV A878V 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 22.7 199500 chr5 112176480 112176480 C T rs864622256 APC Nonsynonymous SNV S1712F 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 29.2 199501 chr5 112176573 112176573 A G rs752038930 APC Nonsynonymous SNV N1743S 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 0.002 199502 chr9 127734026 127734026 T C rs777446571 SCAI Synonymous SNV L499L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 199503 chr7 48141563 48141563 C T rs761983133 UPP1 Nonsynonymous SNV P102L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 199504 chr9 130160211 130160211 G C rs770591156 SLC2A8 Nonsynonymous SNV G83R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 199505 chr11 1311503 1311503 G A rs752656167 TOLLIP Nonsynonymous SNV T57M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 199506 chr11 14515283 14515283 C T COPB1 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 199507 chr9 131864832 131864832 G A rs748953331 CRAT Synonymous SNV P159P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 199508 chr9 13193283 13193283 G A MPDZ Synonymous SNV N562N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.344 199509 chr9 133907542 133907542 C T rs779134438 LAMC3 Synonymous SNV S263S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 199510 chr9 131267093 131267093 T A GLE1 Synonymous SNV S3S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 199511 chr5 131995490 131995490 C T rs769087732 IL13 Synonymous SNV S101S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.501 199512 chr9 134183323 134183323 C T rs137860819 PLPP7 Synonymous SNV D155D 0 0.003 0.01 0 0 1 0 3 0 0 0 0 3.411 199513 chr21 47581961 47581961 C T rs76486812 SPATC1L Nonsynonymous SNV A35T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.9 199514 chr10 118615193 118615193 C T rs939525785 ENO4 Synonymous SNV D75D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 199515 chr11 18739541 18739541 C T rs140962677 IGSF22 Nonsynonymous SNV D304N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 199516 chr21 47848467 47848467 G A rs749003465 PCNT Synonymous SNV A2433A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.61 199517 chr9 135983544 135983544 G A rs144981096 RALGDS Nonsynonymous SNV P288L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 199518 chr5 137504347 137504347 C G BRD8 Nonsynonymous SNV V225L 0 0 0 2 0 0 0.005 0 0 0 0 0 15.48 199519 chr9 136004689 136004689 C A rs114920471 RALGDS Nonsynonymous SNV G6V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.904 199520 chr1 156012596 156012596 G A rs537042853 UBQLN4 Nonsynonymous SNV T392M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 31 199521 chr22 18028758 18028758 C T rs199712744 CECR2 Nonsynonymous SNV R1097C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.03 199522 chr22 18304926 18304926 C G rs572662717 MICAL3 Nonsynonymous SNV W1106C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 199523 chr9 136385327 136385327 C T rs143433318 MYMK Synonymous SNV G73G 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Benign 6.742 199524 chr5 139918622 139918622 T G ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV M2508R 0 0 0 2 0 0 0.005 0 0 0 0 0 26 199525 chr10 126136682 126136682 G T NKX1-2 Synonymous SNV P83P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.725 199526 chr10 128974036 128974036 C T rs777030866 INSYN2A Synonymous SNV A208A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.525 199527 chr9 138713281 138713281 C T rs150096487 CAMSAP1 Nonsynonymous SNV V1076M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 199528 chr9 138714074 138714074 G A rs34440913 CAMSAP1 Synonymous SNV S811S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.199 199529 chr3 133663964 133663964 A G SLCO2A1 Nonsynonymous SNV M479T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.386 199530 chr9 136030688 136030688 A G rs12350913 GBGT1 Nonsynonymous SNV L62P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.6 199531 chr11 2906362 2906362 C G CDKN1C Nonsynonymous SNV E120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.92 199532 chr9 136305552 136305552 G A rs36090624 ADAMTS13 Nonsynonymous SNV R625H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 17.4 199533 chr3 138153858 138153858 G T rs759716021 ESYT3 Nonsynonymous SNV R73L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 199534 chr7 90338909 90338909 C T rs751679131 CDK14 Synonymous SNV F18F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 199535 chr9 137020833 137020833 G C WDR5 Nonsynonymous SNV G254R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 199536 chr11 34118098 34118098 A C CAPRIN1 Nonsynonymous SNV Q593P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 199537 chr9 139995515 139995515 C T rs202157161 MAN1B1 Synonymous SNV D325D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 199538 chr22 24583244 24583244 G C rs577588238 SUSD2 Nonsynonymous SNV V573L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 199539 chr11 35706842 35706842 C T TRIM44 Synonymous SNV I235I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 199540 chr10 135081553 135081553 C T rs761271202 ADAM8 Nonsynonymous SNV G656S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.14 199541 chr7 98994319 98994319 A G rs146420545 PDAP1 Nonsynonymous SNV S178P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 28.6 199542 chr9 140082136 140082136 G A rs112798190 ANAPC2 Synonymous SNV C179C 0 0.003 0 0 0 1 0 0 0 0 0 0 6.296 199543 chr22 30863060 30863060 C T SEC14L3 Nonsynonymous SNV G143E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.8 199544 chr11 47381578 47381578 G A rs564341452 SPI1 Synonymous SNV D53D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.916 199545 chr9 35724278 35724278 C T TLN1 Nonsynonymous SNV E189K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 199546 chr10 26482157 26482157 A G rs34204285 MYO3A Nonsynonymous SNV K1488E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 199547 chr9 37486709 37486709 C A POLR1E Nonsynonymous SNV S29Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 199548 chr8 11058716 11058716 C T rs771520774 XKR6 Nonsynonymous SNV G45S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 199549 chr9 5812146 5812146 T C ERMP1 Nonsynonymous SNV T365A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 199550 chr8 120079626 120079626 G A rs146657673 COLEC10 Nonsynonymous SNV A36T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 199551 chr1 179991979 179991979 C T CEP350 Nonsynonymous SNV P1128S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.815 199552 chr1 180062717 180062717 G A rs148264157 CEP350 Nonsynonymous SNV E2493K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 199553 chr9 731161 731161 G C rs762380962 KANK1 Nonsynonymous SNV C809S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.379 199554 chr1 182026880 182026880 C T ZNF648 Nonsynonymous SNV G89D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 199555 chr8 125078718 125078718 T C FER1L6 Nonsynonymous SNV I1202T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 19.07 199556 chr22 41617250 41617250 C G rs75888626 L3MBTL2 Nonsynonymous SNV L301V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.28 199557 chr22 42172171 42172171 G A rs376848637 MEI1 Synonymous SNV L870L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.054 199558 chr9 92001303 92001303 G A rs150828049 SEMA4D Synonymous SNV T475T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.24 199559 chr22 42473615 42473615 G A rs143817403 PHETA2 Synonymous SNV P106P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.959 199560 chr1 197145764 197145764 A G rs770997264 ZBTB41 Synonymous SNV Y603Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.869 199561 chr11 5323175 5323175 A G rs113985785 OR51B4 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 199562 chr5 175956761 175956761 C T rs114764573 RNF44 Nonsynonymous SNV V329M 0 0 0 3 0 0 0.008 0 0 0 0 0 34 199563 chr9 96866637 96866637 C T PTPDC1 Synonymous SNV F760F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 199564 chr11 64573231 64573231 C A rs904261642 MEN1 Nonsynonymous SNV C359F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 199565 chrUn_gl000219 56708 56708 A G LOC105379477, LOC283788 0 0 0.007 0 0 0 0 2 0 0 1 0 199566 chrUn_gl000219 56767 56767 T C LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 199567 chrUn_gl000219 56772 56772 A C LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 199568 chrUn_gl000219 56773 56773 G A LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 199569 chrUn_gl000219 56784 56784 T C LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 199570 chrUn_gl000219 56792 56792 G A LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 199571 chrUn_gl000220 122528 122528 A G LOC100507412 0 0 0.007 0 0 0 0 2 0 0 0 0 199572 chr10 52566594 52566594 G A rs34190540 A1CF Synonymous SNV L552L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 199573 chr5 176825230 176825230 T - SLC34A1 A622Pfs*60 0 0 0 3 0 0 0.008 0 0 0 0 0 199574 chrX 103294550 103294550 G A rs782738353 H2BFM Nonsynonymous SNV A3T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.693 199575 chr11 65164362 65164362 C T rs375440872 FRMD8 Nonsynonymous SNV P169L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 199576 chrX 109964734 109964734 T C rs759896346 CHRDL1 Nonsynonymous SNV N109S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.505 199577 chrX 124455868 124455868 G A rs765636443 TEX13C Nonsynonymous SNV V634M 0 0 0.003 2 0 0 0.005 1 0 0 0 1 3.425 199578 chr22 50278324 50278324 C T rs369104595 ZBED4 Synonymous SNV I338I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.71 199579 chr8 144732687 144732687 G A rs543510735 ZNF623 Synonymous SNV A215A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.103 199580 chrX 12939406 12939406 A G rs5744083 TLR8 Synonymous SNV K749K 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 Benign 0.001 199581 chr22 50691903 50691903 - T rs749295168 MAPK12 Frameshift insertion T334Nfs*51 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 199582 chr1 205495549 205495549 T C CDK18 Nonsynonymous SNV I209T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 199583 chr5 180631940 180631940 C G TRIM7 Nonsynonymous SNV W57C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 199584 chrX 13645280 13645280 G C rs148690469 EGFL6 Nonsynonymous SNV R480P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 34 199585 chr9 97355888 97355888 C T FBP2 Nonsynonymous SNV A41T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 199586 chr1 207200886 207200886 C T rs367972334 C1orf116 Nonsynonymous SNV G20S 0 0.005 0 0 0 2 0 0 0 0 0 0 20.9 199587 chr1 207658843 207658843 T A rs756117589 CR2 Nonsynonymous SNV F1016I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 199588 chrX 149396287 149396287 C T MIR2114 0 0 0.003 0 0 0 0 1 0 0 0 0 3.112 199589 chr4 5803722 5803722 G A rs149537641 EVC Nonsynonymous SNV A784T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.289 199590 chrX 150832742 150832742 G A rs75291816 PASD1 Synonymous SNV P331P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.337 199591 chr11 68747517 68747517 G T MRGPRD Synonymous SNV T313T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.689 199592 chrX 11139756 11139756 C T rs746037079 HCCS Synonymous SNV H211H 0.002 0.003 0 0 2 1 0 0 1 0 0 0 13.18 199593 chrX 13738095 13738095 A G TRAPPC2 Synonymous SNV H30H 0.002 0.003 0 0 2 1 0 0 1 0 0 0 4.081 199594 chrX 153296784 153296784 G C rs376821032 MECP2 Synonymous SNV P177P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.264 199595 chr1 221053600 221053600 - GCAGCAACAGCCGCC rs752844857 HLX P139_P140insQQQPP 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 199596 chr1 221054648 221054648 A C rs146391223 HLX Synonymous SNV A235A 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 10.69 199597 chr11 71948543 71948543 C T rs1035363493 INPPL1 Synonymous SNV A1085A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.525 199598 chrX 22012461 22012461 A C rs776987766 SMS Nonsynonymous SNV K312Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 199599 chr11 73744519 73744519 G A rs538628212 C2CD3 Nonsynonymous SNV P2229L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.722 199600 chrX 34148722 34148722 C T rs372486528 FAM47A Synonymous SNV P558P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 199601 chr11 74705555 74705555 G C NEU3 Nonsynonymous SNV E32D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.471 199602 chrX 77301953 77301953 T C rs371939448 ATP7A Synonymous SNV S1385S 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 Benign/Likely benign 4.893 199603 chrX 40560494 40560494 G A rs777211432 MED14 Synonymous SNV D471D 0 0 0.007 0 0 0 0 2 0 0 0 0 12.24 199604 chrX 49082427 49082427 G A rs781971299 CACNA1F Nonsynonymous SNV T532M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 199605 chrX 151092761 151092761 A G MAGEA4 Nonsynonymous SNV T209A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.444 199606 chrX 53565896 53565896 G A rs782608727 HUWE1 Synonymous SNV A3926A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 199607 chrX 54497788 54497788 C T rs200707592 FGD1 Nonsynonymous SNV R147H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 199608 chr11 58392025 58392025 C T ZFP91-CNTF 0.001 0 0 0 1 0 0 0 0 0 0 0 6.266 199609 chrX 124456101 124456101 T C rs766640885 TEX13C Synonymous SNV H711H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 199610 chrX 124456213 124456213 - ACAGCA rs371395695 TEX13C S750_H751insNS 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 199611 chrX 128878004 128878004 A G rs149052592 XPNPEP2 Nonsynonymous SNV Q64R 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.679 199612 chr1 228497229 228497229 G A rs370387618 OBSCN Synonymous SNV T4327T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 12.97 199613 chrX 19428080 19428080 G A rs369231619 MAP3K15 Synonymous SNV H570H 0.002 0.003 0 0 2 1 0 0 1 0 0 0 7.866 199614 chrX 20029033 20029033 G A MAP7D2 Nonsynonymous SNV P651L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 199615 chr10 101639681 101639681 C T rs140468338 DNMBP Nonsynonymous SNV V1111I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.8 199616 chr11 60506444 60506444 A G rs867078386 MS4A18 Nonsynonymous SNV T238A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 199617 chr10 103342648 103342648 C T rs139871590 POLL Nonsynonymous SNV G81S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 34 199618 chr11 9167336 9167336 G C DENND5A Nonsynonymous SNV P938A 0.001 0 0 0 1 0 0 0 0 0 0 0 26 199619 chr11 60780989 60780989 C T rs764324969 CD6 Synonymous SNV S415S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.427 199620 chrX 34149419 34149419 C T rs755090154 FAM47A Nonsynonymous SNV R326H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.184 199621 chr10 105191961 105191961 C T rs79997414 PDCD11 Synonymous SNV A1148A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 199622 chr1 880442 880442 G A rs751734936 NOC2L Nonsynonymous SNV S713L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 199623 chrX 46360754 46360754 G A rs370415210 ZNF674 Synonymous SNV D90D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.296 199624 chr10 111642325 111642325 G A rs142753365 XPNPEP1 Synonymous SNV A188A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 199625 chrX 48823233 48823233 T C rs138829224 KCND1 Nonsynonymous SNV I435V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.94 199626 chr11 62287759 62287759 C G AHNAK Nonsynonymous SNV K4710N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 199627 chr11 62297572 62297572 G A rs141288622 AHNAK Synonymous SNV F1439F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.3 199628 chr10 115341888 115341888 C T rs773029226 HABP2 Synonymous SNV T338T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.189 199629 chr1 1231166 1231166 C T rs775873154 ACAP3 Nonsynonymous SNV R552H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 199630 chr11 62396248 62396248 C T rs199956781 GANAB Nonsynonymous SNV V611I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.87 199631 chrX 65819383 65819383 G C EDA2R Synonymous SNV V155V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.357 199632 chr8 6679400 6679400 C T rs749595612 XKR5 Synonymous SNV T266T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.081 199633 chr8 67504777 67504777 T C rs148388060 MYBL1 Synonymous SNV Q255Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.06 199634 chr8 67926685 67926685 C G rs74818824 PPP1R42 Nonsynonymous SNV R91T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.181 199635 chr8 68089943 68089943 A G rs76567936 CSPP1 Synonymous SNV K696K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.18 199636 chr8 68130347 68130347 G A rs150286262 ARFGEF1 Synonymous SNV C1455C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.253 199637 chr8 68163600 68163600 G A rs35879592 ARFGEF1 Synonymous SNV A928A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.86 199638 chr8 68208834 68208834 A G rs116707564 ARFGEF1 Synonymous SNV T157T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.96 199639 chr1 248084358 248084358 A G rs201111512 OR2T8 Synonymous SNV L13L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 199640 chr11 102586142 102586142 A G rs61753779 MMP8 Nonsynonymous SNV L310P 0.005 0 0 0 6 0 0 0 0 0 0 0 18.83 199641 chr11 10328107 10328107 G T rs371598515 ADM Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.156 199642 chr1 6314823 6314823 G A rs535046354 GPR153 Nonsynonymous SNV T48I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 199643 chr11 64950361 64950361 G C rs201613582 CAPN1 Synonymous SNV P63P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.604 199644 chr12 10999713 10999713 G A PRR4 Nonsynonymous SNV S41F 0.003 0 0 0 4 0 0 0 0 0 0 0 2.161 199645 chr10 102242541 102242541 G T WNT8B Nonsynonymous SNV G342C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 199646 chr8 98837315 98837315 C T rs201952416 LAPTM4B Synonymous SNV C179C 0.003 0 0 0 3 0 0 0 0 0 0 0 14.85 199647 chr8 99101923 99101923 A C rs146230859 ERICH5 Nonsynonymous SNV E226D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 22.3 199648 chr1 8555198 8555198 C T RERE Nonsynonymous SNV M343I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 199649 chr6 101110402 101110402 G A rs769978287 ASCC3 Nonsynonymous SNV S766L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.5 199650 chr6 101110403 101110403 A G rs773368984 ASCC3 Nonsynonymous SNV S766P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 199651 chr10 102748606 102748606 C T rs11542130 TWNK Synonymous SNV G213G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 2.035 199652 chr10 104130203 104130203 A G rs755908087 GBF1 Synonymous SNV L1158L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.737 199653 chr6 107103539 107103539 C T rs138471223 QRSL1 Synonymous SNV T364T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.59 199654 chr10 13212949 13212949 C G MCM10 Nonsynonymous SNV T12S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 199655 chr11 113694404 113694404 C T rs773011404 USP28 Synonymous SNV K69K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.94 199656 chr10 134261603 134261603 C T rs370185843 C10orf91 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.649 199657 chr11 67188558 67188558 G A rs1002427577 CARNS1 Synonymous SNV A375A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.21 199658 chr11 118514778 118514778 A G rs372113434 MIR6716 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.32 199659 chr11 118765120 118765120 C T rs556054471 CXCR5 Synonymous SNV A244A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.914 199660 chr10 15317929 15317929 G A rs745619143 FAM171A1 Nonsynonymous SNV L115F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 199661 chr9 113194742 113194742 C A rs373340420 SVEP1 Nonsynonymous SNV D1745Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 199662 chr11 119214556 119214560 CTGGT - MFRP T364Qfs*26 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 199663 chr9 113637928 113637928 G A rs143615495 LPAR1 Synonymous SNV L290L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.794 199664 chr2 25965235 25965235 C T rs370555517 ASXL2 Nonsynonymous SNV G1064E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.4 199665 chr1 17681053 17681053 G A rs200925491 PADI4 Nonsynonymous SNV R394Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 199666 chr10 21463803 21463803 G T rs567765503 NEBL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.234 199667 chr11 121023762 121023762 C T rs772867751 TECTA Synonymous SNV G1426G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.64 199668 chr10 22292209 22292209 T C DNAJC1 Nonsynonymous SNV D52G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 199669 chr9 115456426 115456426 T C INIP Nonsynonymous SNV N8S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.372 199670 chr9 115923870 115923870 A G rs770926192 SLC31A2 Nonsynonymous SNV N52S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.959 199671 chr2 27529154 27529154 G A rs142922734 TRIM54 Nonsynonymous SNV V314I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.3 199672 chr2 27600555 27600555 C T rs200685946 ZNF513 Nonsynonymous SNV G433S 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 24.3 199673 chr2 27728600 27728600 G A rs8179212 GCKR Nonsynonymous SNV G256S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.9 199674 chr1 19209651 19209651 G A rs572505352 ALDH4A1 Synonymous SNV I155I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.178 199675 chr10 28224100 28224100 C T rs138219785 ARMC4 Synonymous SNV G303G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 18.29 199676 chr11 73988140 73988140 G A rs148983957 P4HA3 Nonsynonymous SNV R409C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 199677 chr12 133384737 133384737 G A rs765794376 GOLGA3 Synonymous SNV S306S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.12 199678 chr6 139488154 139488154 A G rs148816859 HECA Synonymous SNV G335G 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 2.6 199679 chr6 144769853 144769853 C T rs764771240 UTRN Nonsynonymous SNV P674S 0 0 0 3 0 0 0.008 0 0 0 0 0 26.6 199680 chr11 7662749 7662749 A G rs141935386 PPFIBP2 Nonsynonymous SNV N329S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.151 199681 chr10 45941019 45941019 C T rs34852267 ALOX5 Stop gain R580X 0 0 0.003 0 0 0 0 1 0 0 0 0 46 199682 chr12 1702718 1702718 T C FBXL14 Nonsynonymous SNV K172R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 199683 chr12 21377717 21377717 C G rs143812591 SLCO1B1 Synonymous SNV S603S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.822 199684 chr11 78443605 78443605 T C rs141471364 TENM4 Nonsynonymous SNV N965S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 18.01 199685 chr12 235027 235027 C T rs782649749 IQSEC3 Synonymous SNV H284H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 199686 chr12 25047312 25047312 G A rs17374285 BCAT1 Nonsynonymous SNV T35M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.856 199687 chr11 799515 799515 C T rs201475441 PIDD1 Nonsynonymous SNV R842H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 199688 chr10 134036365 134036365 G A rs745931599 STK32C Synonymous SNV N386N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.136 199689 chr11 85375405 85375405 C T rs762975777 CREBZF Nonsynonymous SNV G172D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 199690 chr9 130580939 130580939 C T rs541603726 LOC102723566 0.002 0 0 0 2 0 0 0 0 0 0 0 8.162 199691 chr9 130605480 130605480 C T rs747481834 ENG Nonsynonymous SNV E38K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.27 199692 chr1 29041060 29041060 C T GMEB1 Synonymous SNV A489A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 199693 chr1 32098801 32098801 T C rs143340788 PEF1 Nonsynonymous SNV N77S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 199694 chr1 32828353 32828353 G A rs752761896 TSSK3 Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.237 199695 chr9 131708226 131708226 C G DOLK Nonsynonymous SNV V453L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.47 199696 chr10 6392901 6392901 C T rs557075319 LINC02656 0 0 0.003 0 0 0 0 1 0 0 0 0 2.738 199697 chr9 131812201 131812201 G A rs17452596 MIGA2 Nonsynonymous SNV G212S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.155 199698 chr12 43896149 43896149 G C ADAMTS20 Nonsynonymous SNV L225V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 199699 chr9 134385736 134385736 G C rs201073763 POMT1 Nonsynonymous SNV L111F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.3 199700 chr1 39847783 39847783 A G rs759618525 MACF1 Nonsynonymous SNV I2541V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 199701 chr10 73048445 73048445 C T rs34304718 UNC5B Nonsynonymous SNV T341M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 199702 chr2 71187161 71187161 G A rs267599435 ATP6V1B1 Nonsynonymous SNV G180S 0 0.005 0 0 0 2 0 0 0 0 0 0 31 199703 chr9 136004612 136004612 C A rs368557429 RALGDS Nonsynonymous SNV A32S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 199704 chr10 75551918 75551918 C A rs375687412 ZSWIM8 Synonymous SNV R541R 0 0 0.01 0 0 0 0 3 0 0 0 0 13.64 199705 chr12 106461007 106461007 C T rs117517173 NUAK1 Nonsynonymous SNV R520Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 199706 chr10 79743765 79743765 G A rs183347762 POLR3A Synonymous SNV S1114S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.89 199707 chr12 107399024 107399024 T C rs149378103 CRY1 Synonymous SNV E90E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.45 199708 chr10 81053214 81053214 G C rs140387368 ZMIZ1 Nonsynonymous SNV S345T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 199709 chr12 52566946 52566946 A G rs930384025 KRT80 Nonsynonymous SNV L278P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 199710 chr9 139935322 139935322 G A rs145914593 NPDC1 Nonsynonymous SNV P167L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 199711 chr9 140110746 140110746 G T rs140883906 NDOR1 Nonsynonymous SNV D567Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 199712 chr1 46106069 46106069 G A rs143740815 GPBP1L1 Nonsynonymous SNV P186L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 199713 chr12 111856373 111856373 C T rs751562450 SH2B3 Nonsynonymous SNV L142F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.37 199714 chr11 44331321 44331321 G T rs759346076 ALX4 Nonsynonymous SNV Q98K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.088 199715 chr11 4471383 4471383 C G OR52K2 Nonsynonymous SNV P272A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.09 199716 chr12 113565892 113565892 C A rs138125207 RASAL1 Nonsynonymous SNV V72L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 199717 chr12 113590631 113590631 A G CFAP73 Nonsynonymous SNV Q69R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 199718 chr12 53800479 53800479 G A rs374618406 SP1 Nonsynonymous SNV G548S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 199719 chr12 53876626 53876626 C T rs745378993 MAP3K12 Nonsynonymous SNV R654Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 199720 chr10 518421 518421 G A rs748396691 DIP2C Nonsynonymous SNV R76C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 199721 chr9 2643894 2643894 T C VLDLR Nonsynonymous SNV I293T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 199722 chr5 65466565 65466565 G A rs188664232 SREK1 Nonsynonymous SNV R425Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 199723 chr6 43410716 43410716 G A rs145357460 ABCC10 Synonymous SNV E717E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.03 199724 chr6 43476142 43476142 C T rs141583225 LRRC73 Synonymous SNV T150T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.3 199725 chr9 74860160 74860160 T A rs746516033 GDA Nonsynonymous SNV L411Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 199726 chr1 82456496 82456496 C T ADGRL2 Synonymous SNV D1293D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.927 199727 chr1 84408316 84408316 A G rs377446020 TTLL7 Synonymous SNV L158L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.247 199728 chr10 74671597 74671597 G A OIT3 Nonsynonymous SNV V264I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 199729 chr12 72036297 72036297 T C rs200792044 ZFC3H1 Nonsynonymous SNV T516A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 199730 chr2 160080821 160080821 G A rs778829193 TANC1 Nonsynonymous SNV G1052S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 199731 chr11 113105857 113105857 C T rs117485712 NCAM1 Nonsynonymous SNV A589V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.79 199732 chr11 113236969 113236969 C T rs769450707 TTC12 Nonsynonymous SNV L664F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 199733 chr6 56417113 56417113 G A rs186499004 DST Nonsynonymous SNV R2870C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 26.6 199734 chr9 97522828 97522828 C T rs779393035 AOPEP Stop gain R255X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 199735 chr9 990237 990237 C G rs760447078 DMRT3 Synonymous SNV R217R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.245 199736 chr6 57072483 57072483 A G rs779101760 RAB23 Synonymous SNV L62L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.472 199737 chr6 64423482 64423482 A G rs781464970 PHF3 Nonsynonymous SNV K1912E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 199738 chr11 117321319 117321319 G A rs143014037 DSCAML1 Synonymous SNV N1218N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 199739 chr1 94543278 94543278 G A rs138157885 ABCA4 Nonsynonymous SNV R508C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 199740 chr11 5529840 5529840 G C rs141419277 UBQLN3 Nonsynonymous SNV Q317E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 199741 chr12 30787104 30787104 C T IPO8 Nonsynonymous SNV E733K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 199742 chr6 74516767 74516767 C G rs141815508 CD109 Nonsynonymous SNV T977S 0.002 0.003 0 6 2 1 0.015 0 0 0 0 0 19.38 199743 chr2 172586333 172586336 TGAC - DYNC1I2 D495Gfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 199744 chr6 76063368 76063368 G A rs142490872 FILIP1 Synonymous SNV A172A 0.001 0.003 0 6 1 1 0.015 0 0 0 0 0 10.98 199745 chr1 109838901 109838901 G A rs769849732 MYBPHL Synonymous SNV T274T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 199746 chr12 44149018 44149018 A G PUS7L Nonsynonymous SNV F11L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 199747 chr10 99079846 99079846 C T rs370154705 FRAT1 Synonymous SNV L212L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 199748 chr11 124440690 124440690 C T rs201806973 OR8A1 Synonymous SNV L225L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 199749 chr1 114240883 114240883 C G PHTF1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 199750 chr12 48962979 48962979 T C rs148859740 LALBA Nonsynonymous SNV I60V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 199751 chr12 4919640 4919640 G A KCNA6 Nonsynonymous SNV G145S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 199752 chr12 49724019 49724019 A T rs994412498 TROAP Nonsynonymous SNV D464V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 199753 chr11 126162718 126162724 CAGTAGT - rs767725127 TIRAP S139Tfs*25 0 0 0.003 1 0 0 0.003 1 0 0 0 0 199754 chr12 51457619 51457619 A G rs373953570 CSRNP2 Synonymous SNV N514N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 199755 chr11 129873233 129873233 C T rs569342107 LINC00167 0 0 0.003 0 0 0 0 1 0 0 0 0 8.403 199756 chr12 51773185 51773185 G C rs752996671 GALNT6 Synonymous SNV P127P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.594 199757 chr12 51888794 51888794 G T rs745614861 SLC4A8 Synonymous SNV R945R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.704 199758 chr12 52400850 52400850 C T rs867104205 GRASP Nonsynonymous SNV A16V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 199759 chr1 145530325 145530325 C T rs781959521 ITGA10 Synonymous SNV P37P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.41 199760 chr11 14989289 14989289 A G rs145477509 CALCA Synonymous SNV N113N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.067 199761 chr13 19748167 19748167 G A rs780860372 TUBA3C Nonsynonymous SNV L397F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 199762 chr11 17630709 17630709 C G OTOG Nonsynonymous SNV P1448R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 199763 chr12 53069235 53069235 G A rs11170232 KRT1 Synonymous SNV Y559Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.795 199764 chr12 53069241 53069241 - CCACGGCCGCCGCCGCCGCCAC KRT1 Frameshift insertion S557Rfs*104 0.001 0 0 0 1 0 0 0 0 0 0 0 199765 chr12 53069243 53069243 - CCAGAACCATAGCTACC KRT1 Frameshift insertion S557Gfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 199766 chr1 152057746 152057746 G C rs754264201 TCHHL1 Stop gain Y804X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 199767 chr12 53189689 53189689 C G rs377002190 KRT3 Synonymous SNV R46R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.251 199768 chr11 103130673 103130673 G A DYNC2H1 Nonsynonymous SNV M3554I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 199769 chr12 53670563 53670563 C A rs61760168 ESPL1 Synonymous SNV A620A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 199770 chr1 153945724 153945724 - GGAGAGGCACAACATGTGAGG CREB3L4 Stop gain I271_E394del 0.001 0 0 0 1 0 0 0 0 0 0 0 199771 chr13 28597490 28597490 C T rs150603645 FLT3 Synonymous SNV K805K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.12 199772 chr11 2441499 2441499 C T rs201257506 TRPM5 Nonsynonymous SNV R201Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 199773 chr11 32119904 32119904 G A rs117017377 RCN1 Nonsynonymous SNV A153T 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign 11.76 199774 chr1 156646482 156646482 C A NES Nonsynonymous SNV G192V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 199775 chr11 32858286 32858286 C T rs144621205 PRRG4 Synonymous SNV P62P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.363 199776 chr11 114393037 114393037 C T rs199812582 NXPE1 Nonsynonymous SNV A291T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 199777 chr12 57431803 57431803 A G rs141145134 MYO1A Nonsynonymous SNV L604P 0.002 0 0 0 2 0 0 0 0 0 0 0 29 199778 chr1 157650500 157650500 T C rs150534149 FCRL3 Nonsynonymous SNV E673G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.652 199779 chr1 158325138 158325138 A - CD1E I37Sfs*3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 199780 chr7 113518019 113518019 T C rs200480987 PPP1R3A Nonsynonymous SNV E1043G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.489 199781 chr12 59283783 59283783 T C rs61754219 LRIG3 Synonymous SNV Q158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 199782 chr11 61959667 61959667 C T rs777772272 SCGB1D1 Synonymous SNV C65C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.41 199783 chr11 44626973 44626973 G A CD82 Nonsynonymous SNV M110I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 199784 chr13 52663414 52663414 T C rs751654295 NEK5 Nonsynonymous SNV Q415R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 199785 chr11 47189720 47189720 G C rs751073020 ARFGAP2 Nonsynonymous SNV L314V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 199786 chr13 77671680 77671680 C T rs772069610 MYCBP2 Synonymous SNV K3203K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.741 199787 chr11 47690450 47690450 G A rs143896953 AGBL2 Synonymous SNV G719G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 199788 chr11 48152053 48152053 C T rs148162486 PTPRJ Nonsynonymous SNV T467M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.822 199789 chr11 64662851 64662851 C G ATG2A Nonsynonymous SNV D1823H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 199790 chr12 86199235 86199235 T C RASSF9 Nonsynonymous SNV T185A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 199791 chr12 88523488 88523488 C T rs796540607 CEP290 Nonsynonymous SNV D279N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 199792 chr11 6585103 6585103 C T rs905952855 DNHD1 Nonsynonymous SNV P3345S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 199793 chr2 231973478 231973478 C T rs146731940 HTR2B Nonsynonymous SNV R400Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.106 199794 chr11 66114865 66114865 G A rs531686913 B4GAT1 Nonsynonymous SNV P51L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 20.7 199795 chr11 66294440 66294440 C T rs765888416 ZDHHC24 Synonymous SNV T258T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.03 199796 chr11 66358319 66358319 C T rs201450672 CCDC87 Nonsynonymous SNV R723Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.009 199797 chr11 66742951 66742951 C G C11orf86 Nonsynonymous SNV Q40E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.012 199798 chr11 68204445 68204445 C T rs3736229 LRP5 Synonymous SNV D782D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 18.31 199799 chr11 68475795 68475795 T A rs781580356 TESMIN Nonsynonymous SNV K503M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.2 199800 chr11 18422423 18422423 C T rs201530363 LDHA Nonsynonymous SNV T124M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.5 199801 chr11 18731033 18731033 C T rs199889685 IGSF22 Nonsynonymous SNV E967K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 199802 chr14 22951930 22951930 C A rs919699108 LOC105370401 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.618 199803 chr1 198505830 198505830 C A ATP6V1G3 Nonsynonymous SNV R36L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.297 199804 chr1 201084158 201084158 C T ASCL5 Nonsynonymous SNV A115T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.35 199805 chr11 71149991 71149991 G A rs200132007 DHCR7 Synonymous SNV F255F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.31 199806 chr11 56019925 56019925 T G rs17150243 OR5T3 Nonsynonymous SNV W84G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.846 199807 chr11 2181213 2181213 G T rs121908279 INS Nonsynonymous SNV L68M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.01 199808 chr11 22242701 22242701 T C ANO5 Nonsynonymous SNV I79T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 199809 chr13 113333849 113333849 G A rs144955786 ATP11AUN 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.991 199810 chr13 114780741 114780741 G A RASA3 Nonsynonymous SNV T418I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 199811 chr6 35289082 35289082 G A rs765691207 DEF6 Synonymous SNV S597S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.118 199812 chr1 203472683 203472683 C A rs200109409 OPTC Nonsynonymous SNV N278K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 199813 chr6 35927247 35927247 G A rs149456040 SLC26A8 Nonsynonymous SNV P513L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 199814 chr11 56237330 56237330 G C rs141876928 OR5M3 Nonsynonymous SNV S215C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 199815 chr14 36096724 36096724 C T rs377149069 RALGAPA1 Synonymous SNV K2096K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.935 199816 chr11 85435489 85435489 T A rs757235719 SYTL2 Nonsynonymous SNV M1638L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 199817 chr11 36669625 36669625 A G C11orf74 Nonsynonymous SNV I66V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 199818 chr11 376345 376345 C T rs150370562 B4GALNT4 Nonsynonymous SNV P431S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.77 199819 chr13 32776594 32776594 C T rs768083836 FRY Synonymous SNV S1316S 0.001 0 0 0 1 0 0 0 0 0 0 0 12 199820 chr13 36521538 36521538 C T rs146364649 DCLK1 Synonymous SNV P260P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 199821 chr13 38152991 38152991 A G POSTN Nonsynonymous SNV I651T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 199822 chr11 92895923 92895923 A C rs139843467 SLC36A4 Nonsynonymous SNV F194C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 199823 chr6 46107383 46107383 C T ENPP4 Synonymous SNV S21S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.985 199824 chr14 55411152 55411152 A G rs114259726 WDHD1 Synonymous SNV N906N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 4.818 199825 chr11 93421027 93421027 A G CEP295 Synonymous SNV E444E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.537 199826 chr11 47179436 47179436 G C rs779569704 C11orf49 Nonsynonymous SNV M231I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 199827 chr1 216251486 216251486 C T rs111033421 USH2A Synonymous SNV V1839V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.28 199828 chr14 57947437 57947437 C T CCDC198 Synonymous SNV E176E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.808 199829 chr6 49425474 49425474 C T rs770810987 MMUT Nonsynonymous SNV R228Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 199830 chr11 48327855 48327855 G A rs766152996 OR4S1 Synonymous SNV V27V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.83 199831 chr11 9983565 9983565 C T rs185968327 SBF2 Nonsynonymous SNV R600Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 199832 chr13 67799616 67799616 G C PCDH9 Nonsynonymous SNV T986S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.318 199833 chr11 61117055 61117055 C T CYB561A3 Nonsynonymous SNV G256S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.781 199834 chr13 73345041 73345041 C A rs769194741 DIS3 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 199835 chr7 47408209 47408209 G A rs142175160 TNS3 Synonymous SNV A678A 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Benign 0.976 199836 chr13 76395744 76395744 C A LMO7 Nonsynonymous SNV T553K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 199837 chr1 227920270 227920270 G A rs372556713 JMJD4 Synonymous SNV D389D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.824 199838 chr11 62290922 62290922 C T rs200822616 AHNAK Nonsynonymous SNV G3656D 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 25.8 199839 chr11 62415577 62415577 G A rs757426247 INTS5 Synonymous SNV L659L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.74 199840 chr1 228402783 228402783 G A rs371867853 OBSCN Synonymous SNV P604P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.367 199841 chr11 63072295 63072295 - TGTC rs765467943 SLC22A10 Frameshift insertion F513Cfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 199842 chr1 228538598 228538598 G A rs151074400 OBSCN Nonsynonymous SNV A6125T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 199843 chr1 228564517 228564517 C T rs200848685 OBSCN Nonsynonymous SNV R7661W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 199844 chr7 51095750 51095750 C G rs17134127 COBL Nonsynonymous SNV A1015P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.003 199845 chr7 51096014 51096014 C T rs17134128 COBL Nonsynonymous SNV D927N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 3.493 199846 chr14 75366692 75366692 C A DLST Nonsynonymous SNV T323N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 199847 chr11 6461930 6461930 G A rs113295804 HPX Synonymous SNV G38G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 6.195 199848 chr1 234595013 234595013 C A TARBP1 Nonsynonymous SNV C532F 0.001 0 0 0 1 0 0 0 0 0 0 0 34 199849 chr1 236176824 236176824 G T rs141303044 NID1 Nonsynonymous SNV T764N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.395 199850 chr11 55406147 55406147 T C rs1002931579 OR4P4 Nonsynonymous SNV F105S 0 0.005 0 0 0 2 0 0 0 1 0 0 22.8 199851 chr7 76022731 76022731 G A rs142875026 SSC4D Nonsynonymous SNV L442F 0.003 0.008 0.003 7 3 3 0.018 1 0 0 0 0 22.8 199852 chr3 99567309 99567309 T C FILIP1L Nonsynonymous SNV M831V 0 0.008 0 0 0 3 0 0 0 0 0 0 0.024 199853 chr7 90895952 90895952 C A rs200835205 FZD1 Nonsynonymous SNV A586E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.3 199854 chr11 72945866 72945866 T C rs768887100 P2RY2 Nonsynonymous SNV M221T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 199855 chr3 113619973 113619973 G A rs555176961 GRAMD1C Synonymous SNV S7S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.14 199856 chr7 94057691 94057691 C T rs150124840 COL1A2 Nonsynonymous SNV R1205W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 199857 chr3 113847719 113847719 A G rs139341493 DRD3 Synonymous SNV H349H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Likely benign 1.477 199858 chr14 24003807 24003807 C T rs529588153 ZFHX2 Nonsynonymous SNV R243H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 199859 chr2 3743921 3743921 C T rs200233346 ALLC Nonsynonymous SNV R242W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 199860 chr14 24802079 24802079 A T rs777977471 ADCY4 Nonsynonymous SNV L92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 199861 chr14 24901164 24901164 G A rs183267849 KHNYN Nonsynonymous SNV E274K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.04 199862 chr11 88338092 88338092 T C rs147472716 GRM5 Synonymous SNV K396K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.074 199863 chr14 39796110 39796110 A G MIA2 Nonsynonymous SNV N474S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 199864 chr11 93523838 93523838 C T rs7119915 MED17 Synonymous SNV T172T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 12.86 199865 chr11 94203652 94203652 G C rs115244417 MRE11 Nonsynonymous SNV S334R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 20.8 199866 chr11 94603912 94603912 G A rs116313699 AMOTL1 Synonymous SNV L891L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 199867 chr2 27799978 27799978 G T rs745705052 C2orf16 Nonsynonymous SNV G180V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 199868 chr2 27803658 27803658 A G rs776892065 C2orf16 Nonsynonymous SNV R1407G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.339 199869 chr12 45059310 45059310 G C rs138454729 NELL2 Nonsynonymous SNV I467M 0.003 0 0.007 0 4 0 0 2 0 0 0 0 23.7 199870 chr2 29287762 29287762 C T rs115730331 PCARE Synonymous SNV A1280A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.2 199871 chr2 29293733 29293733 T G rs78874550 PCARE Nonsynonymous SNV E1132A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 28.4 199872 chr12 10342512 10342512 G A rs759266505 TMEM52B Nonsynonymous SNV G89S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 199873 chr2 31472283 31472283 G A rs116417209 EHD3 Nonsynonymous SNV V151I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.82 199874 chr2 32983399 32983399 C T rs34188947 TTC27 Nonsynonymous SNV T448M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 199875 chr14 64727458 64727458 T C rs78851986 ESR2 Nonsynonymous SNV R221G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.1 199876 chr2 39083508 39083508 C T rs200694609 DHX57 Synonymous SNV Q459Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 199877 chr7 1587439 1587439 G A rs187596987 TMEM184A Synonymous SNV S317S 0.004 0.01 0.003 0 5 4 0 1 0 0 0 0 7.135 199878 chr12 110969389 110969392 GAAA - rs139110749 RAD9B K311Ifs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 199879 chr7 5105067 5105067 T C rs748701541 RBAK Synonymous SNV F660F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.048 199880 chr2 54114496 54114496 A T rs367660389 PSME4 Synonymous SNV P1543P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.439 199881 chr2 54125058 54125058 G A PSME4 Synonymous SNV A1185A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 199882 chr12 111893869 111893869 C T rs143166155 ATXN2 Synonymous SNV A929A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.77 199883 chr15 65350889 65350889 C A rs377569504 RASL12 Nonsynonymous SNV D82Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 199884 chr14 77576283 77576283 C A CIPC Nonsynonymous SNV L89M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 199885 chr2 66665063 66665063 C T rs558509818 MEIS1 Synonymous SNV D69D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.29 199886 chr3 183210294 183210294 T C rs35354575 KLHL6 Nonsynonymous SNV I518V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 199887 chr2 70439927 70439927 G A rs757332023 TIA1 Nonsynonymous SNV P286L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 199888 chr11 66190365 66190365 C T rs144282793 NPAS4 Nonsynonymous SNV S44F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.62 199889 chr2 71192214 71192214 G C ATP6V1B1 Nonsynonymous SNV G502A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 199890 chr12 121622381 121622381 G A rs34219304 P2RX7 Nonsynonymous SNV V522I 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 4.771 199891 chr14 90485736 90485736 G A rs777314131 TDP1 Nonsynonymous SNV G540R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 199892 chr12 121711976 121711976 G A rs115336463 CAMKK2 Synonymous SNV N118N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.518 199893 chr12 121858078 121858080 GAT - rs370767127 RNF34 D37del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 199894 chr11 66583546 66583546 T C rs371337862 C11orf80 Synonymous SNV S239S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.25 199895 chr12 122248207 122248207 C T rs183003739 SETD1B Synonymous SNV P452P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.141 199896 chr2 73679553 73679553 G A ALMS1 Nonsynonymous SNV V1966I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.906 199897 chr2 74702410 74702410 G A rs148531378 CCDC142 Synonymous SNV L580L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.536 199898 chr11 69625373 69625373 C G rs370444194 FGF3 Synonymous SNV T140T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.675 199899 chr14 96707497 96707497 C T rs61751178 BDKRB2 Synonymous SNV L278L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.33 199900 chr12 132399687 132399687 C T rs12827141 ULK1 Nonsynonymous SNV P478L 0 0 0.01 1 0 0 0.003 3 0 0 0 0 9.936 199901 chr3 197619588 197619588 T C rs149039509 IQCG Nonsynonymous SNV K336E 0 0.003 0 0 0 1 0 0 0 0 0 0 29 199902 chr12 133398696 133398696 C T rs139788140 GOLGA3 Nonsynonymous SNV E7K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.233 199903 chr15 25953158 25953158 G A ATP10A Nonsynonymous SNV S847F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 199904 chr2 101009870 101009870 A G rs147076164 CHST10 Nonsynonymous SNV V303A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 199905 chr15 28361854 28361854 C T rs574228980 HERC2 Synonymous SNV P4522P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.05 199906 chr15 31198043 31198043 A G rs115139636 FAN1 Nonsynonymous SNV M393V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.449 199907 chr2 103010933 103010933 A - IL18R1 T124Hfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 199908 chr12 16430476 16430476 C G SLC15A5 Synonymous SNV L48L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.093 199909 chr2 105858355 105858355 C T rs141939363 GPR45 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.088 199910 chr8 32617762 32617762 C G rs759771620 NRG1 Nonsynonymous SNV S215C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 199911 chr8 33370014 33370014 G A rs78781527 TTI2 Nonsynonymous SNV P40S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 Benign/Likely benign 7.815 199912 chr2 110343382 110343382 C T rs199941021 SEPTIN10 Nonsynonymous SNV G22S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 199913 chr16 10864148 10864148 A C TVP23A Nonsynonymous SNV L208R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 199914 chr12 29936511 29936511 C G rs1025987742 TMTC1 Synonymous SNV V58V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.56 199915 chr12 32729367 32729367 C T rs758603361 FGD4 Nonsynonymous SNV R138C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 199916 chr4 6303821 6303821 A C rs779199009 WFS1 Nonsynonymous SNV I767L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.23 199917 chr12 3409196 3409196 C T LOC100128253 0 0 0.003 0 0 0 0 1 0 0 0 0 7.971 199918 chr16 1394115 1394115 C G BAIAP3 Nonsynonymous SNV S457R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 199919 chr2 129075919 129075919 G A rs61732019 HS6ST1 Synonymous SNV R73R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.16 199920 chr2 131487472 131487472 G C GPR148 Nonsynonymous SNV G250R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 199921 chr15 43819862 43819862 C A rs190284479 MAP1A Nonsynonymous SNV P2064H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 199922 chr4 8376723 8376723 C A ACOX3 Nonsynonymous SNV A604S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.71 199923 chr15 48500251 48500251 T C rs1051622941 SLC12A1 Nonsynonymous SNV I112T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 199924 chr12 48596442 48596442 T C OR10AD1 Nonsynonymous SNV M212V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 199925 chr15 48500259 48500259 T C SLC12A1 Nonsynonymous SNV Y115H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 199926 chr13 103394066 103394066 A C rs949682032 CCDC168 Nonsynonymous SNV I2994S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.102 199927 chr15 50751314 50751314 A C USP8 Nonsynonymous SNV K74N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.149 199928 chr13 103401480 103401480 T C rs142734293 CCDC168 Nonsynonymous SNV N523D 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 0.603 199929 chr2 152235980 152235980 G A rs754315587 TNFAIP6 Nonsynonymous SNV G256E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 199930 chr16 2027120 2027120 G A rs143113972 TBL3 Synonymous SNV T502T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 199931 chr16 2042893 2042893 G A rs142018535 SYNGR3 Synonymous SNV R170R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.643 199932 chr2 152390819 152390819 A C rs777930884 NEB Synonymous SNV A5408A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.49 199933 chr16 2049879 2049879 G - rs748405225 ZNF598 G558Afs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 199934 chr16 2049881 2049882 CG - rs756231103 ZNF598 D556Efs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 199935 chr16 2052650 2052650 G A rs201246549 ZNF598 Synonymous SNV H183H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.783 199936 chr2 152566267 152566267 T C NEB Nonsynonymous SNV Q313R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 199937 chr16 2203407 2203407 C T RAB26 Synonymous SNV S252S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.853 199938 chr16 22361153 22361153 C T rs191980279 CDR2 Synonymous SNV V70V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 199939 chr12 105538562 105538562 C T WASHC4 Nonsynonymous SNV A750V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 199940 chr16 2222598 2222598 C T rs187643207 TRAF7 Synonymous SNV Y264Y 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 12.16 199941 chr15 65471320 65471320 G A rs549129082 CLPX Nonsynonymous SNV R104C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 199942 chr16 29818032 29818032 G C rs757901583 MAZ Nonsynonymous SNV V4L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 199943 chr15 67528764 67528764 C T rs371926366 AAGAB Nonsynonymous SNV D6N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 199944 chr12 55420785 55420785 G A rs151143558 NEUROD4 Nonsynonymous SNV D188N 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 24.1 199945 chr4 62758510 62758510 T A rs373585028 ADGRL3 Synonymous SNV S466S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.204 199946 chr16 30736099 30736099 T G SRCAP Nonsynonymous SNV V1785G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 199947 chr15 71196971 71196971 G A rs779422521 LRRC49 Nonsynonymous SNV R131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 199948 chr12 56212920 56212920 C T rs748860219 ORMDL2 Nonsynonymous SNV P46L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 199949 chr12 120569081 120569081 C T rs764827741 GCN1 Nonsynonymous SNV V2491M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 199950 chr15 75500464 75500464 G A rs377308521 C15orf39 Nonsynonymous SNV R692Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 199951 chr12 57570870 57570870 C T rs769791643 LRP1 Synonymous SNV P1346P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 199952 chr15 75798316 75798316 G A rs765888385 PTPN9 Nonsynonymous SNV T223M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 199953 chr16 3254654 3254654 G A rs750777004 OR1F1 Nonsynonymous SNV M136I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 199954 chr12 121622421 121622421 C T rs201256156 P2RX7 Nonsynonymous SNV A535V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 199955 chr16 3486463 3486463 G A rs112305941 ZNF597 Synonymous SNV L412L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.186 199956 chr16 3658617 3658617 C A rs775853263 SLX4 Nonsynonymous SNV A117S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.76 199957 chr16 426221 426221 G A rs146617062 PGAP6 Nonsynonymous SNV S380L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.23 199958 chr12 123285812 123285812 C T rs545336133 CCDC62 Synonymous SNV C373C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.236 199959 chr12 6422901 6422901 G A rs149635039 PLEKHG6 Nonsynonymous SNV R50K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.671 199960 chr12 6439066 6439066 C T rs200900510 TNFRSF1A Nonsynonymous SNV R204K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.438 199961 chr12 123481987 123481987 C T rs150645020 PITPNM2 Nonsynonymous SNV A453T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.68 199962 chr15 81571989 81571989 C T rs765461860 IL16 Nonsynonymous SNV R319C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 199963 chr16 46617436 46617436 C G rs368639897 SHCBP1 Nonsynonymous SNV G484A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 199964 chr15 81651738 81651738 T G rs185309297 TMC3 Nonsynonymous SNV I157L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.668 199965 chr12 124957661 124957661 C T NCOR2 Nonsynonymous SNV G143D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 199966 chr4 81966934 81966934 C T rs566868500 BMP3 Nonsynonymous SNV S120L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 199967 chr13 73396019 73396019 A G rs771685460 PIBF1 Synonymous SNV E235E 0.005 0 0 0 6 0 0 0 0 0 0 0 9.607 199968 chr16 5083937 5083937 A C rs201027214 NAGPA-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 9.53 199969 chr15 86286936 86286936 G A rs140260439 AKAP13 Nonsynonymous SNV E1379K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 199970 chr15 87066122 87066122 T C rs777530261 AGBL1 Synonymous SNV H879H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.509 199971 chr4 90856019 90856019 A C MMRN1 Nonsynonymous SNV K396N 0 0.005 0 0 0 2 0 0 0 0 0 0 3.813 199972 chr15 88483866 88483866 A G rs34595460 NTRK3 Synonymous SNV L470L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 1.27 199973 chr15 89820081 89820081 G A FANCI Nonsynonymous SNV A418T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 199974 chr15 89866732 89866732 C A POLG Nonsynonymous SNV G723V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.156 199975 chr16 602057 602057 C T rs147299088 CAPN15 Synonymous SNV F784F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.277 199976 chr9 135458366 135458366 C G BARHL1 Nonsynonymous SNV T61R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.86 199977 chr16 67465352 67465352 C A rs1046652532 HSD11B2 Synonymous SNV I67I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 199978 chr16 67719594 67719594 C T rs371418821 GFOD2 Nonsynonymous SNV V9M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.5 199979 chr12 25368405 25368405 A T rs373169526 KRAS Stop gain C180X 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 41 199980 chr12 99192713 99192713 C T ANKS1B Nonsynonymous SNV R20Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 199981 chr12 26217934 26217934 G C rs145936448 RASSF8 Nonsynonymous SNV E203Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.19 199982 chr4 121961159 121961159 G A rs201745396 NDNF Nonsynonymous SNV T80M 0 0.008 0 0 0 3 0 0 0 0 0 0 26.4 199983 chr9 136660832 136660832 C G rs775973147 VAV2 Synonymous SNV R348R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.08 199984 chr2 217311759 217311759 C T SMARCAL1 Synonymous SNV L577L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 199985 chr16 722111 722111 C G rs150353401 RHOT2 Nonsynonymous SNV S324R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.511 199986 chr2 218700922 218700922 C T rs200499669 TNS1 Nonsynonymous SNV R882Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 199987 chr12 32136750 32136750 T C rs3809228 RESF1 Nonsynonymous SNV F954S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 199988 chr2 219892630 219892630 G A CFAP65 Synonymous SNV I586I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.324 199989 chr12 39047726 39047726 G C rs143712670 CPNE8 Synonymous SNV P551P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.484 199990 chr12 39947863 39947863 T C rs756525333 ABCD2 Nonsynonymous SNV I692V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.94 199991 chr13 113622456 113622456 - GG MCF2L-AS1 0 0 0.01 0 0 0 0 3 0 0 1 0 199992 chr12 41582356 41582356 C T rs200986543 PDZRN4 Synonymous SNV C33C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.55 199993 chr13 23913713 23913713 T C rs34559250 SACS Synonymous SNV L1287L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 199994 chr16 1841410 1841410 G - IGFALS L375Wfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 199995 chr12 48132512 48132512 G A rs200115309 RAPGEF3 Synonymous SNV N787N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.689 199996 chr13 25914167 25914167 T C rs775784721 NUP58 Synonymous SNV G553G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.242 199997 chr13 28006895 28006895 C T GTF3A Synonymous SNV H172H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 199998 chr13 30091383 30091383 C A rs767731591 SLC7A1 Synonymous SNV A525A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 199999 chr13 30351386 30351386 G A rs34530713 UBL3 Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 200000 chr14 23588022 23588022 A G rs368706357 CEBPE Synonymous SNV H93H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.708 200001 chr14 23744829 23744829 C T rs79723196 HOMEZ Synonymous SNV E536E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.11 200002 chr9 140375461 140375461 G A rs561746566 PNPLA7 Synonymous SNV L763L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.331 200003 chr2 228767718 228767718 G T rs750126299 DAW1 Nonsynonymous SNV V181L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 200004 chr16 2294466 2294466 C T rs200130130 ECI1 Nonsynonymous SNV V128I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.73 200005 chr16 86544210 86544210 - CGG rs574179816 FOXF1 G23_A24insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 200006 chr12 50747550 50747550 C T FAM186A Nonsynonymous SNV R1022Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.239 200007 chr12 50860863 50860863 A C rs17124715 LARP4 Nonsynonymous SNV N360T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.875 200008 chr16 27509131 27509131 G A rs199943601 GTF3C1 Nonsynonymous SNV S726F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 200009 chr13 46840878 46840878 A G rs776437984 LRRC63 Nonsynonymous SNV K441E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 200010 chr16 88599216 88599216 C G ZFPM1 Synonymous SNV G354G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 200011 chr14 47504347 47504347 C A rs202227256 MDGA2 Nonsynonymous SNV M493I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 200012 chr12 52758164 52758164 A G rs767707717 KRT85 Nonsynonymous SNV L14P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.373 200013 chr9 34568965 34568965 G A CNTFR Synonymous SNV V5V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.81 200014 chr16 31477594 31477594 C G rs200951744 ARMC5 Nonsynonymous SNV P731R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 200015 chr16 3304696 3304696 G A rs104895078 MEFV Synonymous SNV P124P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.611 200016 chr14 55169164 55169164 G A rs143416209 SAMD4A Nonsynonymous SNV R194Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 200017 chr14 101138188 101138188 C T rs79229764 LINC00523 0 0 0.041 0 0 0 0 12 0 0 0 0 2.63 200018 chr16 3598163 3598163 G A rs763664611 NLRC3 Stop gain Q915X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 200019 chr2 239258015 239258015 C T rs373537340 TRAF3IP1 Nonsynonymous SNV R407W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 31 200020 chr16 4016660 4016660 T C rs775427887 ADCY9 Nonsynonymous SNV I1060V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 200021 chr2 241534564 241534564 C T rs188932271 CAPN10 Nonsynonymous SNV P374L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 200022 chr2 241727573 241727573 A G rs183284555 KIF1A Synonymous SNV F86F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.459 200023 chr2 241818170 241818170 G A rs369664123 AGXT Nonsynonymous SNV E371K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.39 200024 chr2 242065699 242065699 G A rs753037022 PASK Synonymous SNV I877I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 200025 chr2 242181919 242181919 C G rs983647050 HDLBP Nonsynonymous SNV V676L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 200026 chr2 242743215 242743215 G T rs568045190 GAL3ST2 Synonymous SNV A277A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 200027 chr17 12663845 12663845 A G rs181748215 LOC100128006 0.001 0 0 0 1 0 0 0 0 0 0 0 8.065 200028 chr17 12898166 12898166 C T ELAC2 Synonymous SNV A608A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 200029 chr12 57112759 57112759 G A rs372688513 NACA Nonsynonymous SNV T852M 0 0.003 0 0 0 1 0 0 0 0 0 0 2 200030 chr17 17924549 17924549 A G rs945867816 ATPAF2 Nonsynonymous SNV I207T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 200031 chr12 58144768 58144768 C G rs563692823 CDK4 Nonsynonymous SNV V154L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 18.95 200032 chr5 37183329 37183329 G A rs141109938 CPLANE1 Synonymous SNV L1652L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.919 200033 chr5 37396536 37396536 G A rs61742650 WDR70 Nonsynonymous SNV G97D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 200034 chr3 14105859 14105870 CAGCAGCAGCCC - rs766282707 TPRXL 0.001 0 0 0 1 0 0 0 0 0 0 0 200035 chr14 23314547 23314547 C A rs746606080 MMP14 Synonymous SNV P463P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 200036 chr16 66950095 66950095 C T rs1018470057 CDH16 Synonymous SNV E99E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.013 200037 chr16 67333433 67333433 C G rs748306906 KCTD19 Nonsynonymous SNV K273N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 200038 chr16 67859171 67859171 G A rs199530154 TSNAXIP1 Synonymous SNV S182S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.36 200039 chr12 6657268 6657268 C T rs778033792 IFFO1 Nonsynonymous SNV R469Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 200040 chr14 24045424 24045424 C A rs562619796 JPH4 Synonymous SNV S207S 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 21.7 200041 chr12 6833924 6833924 G C rs750742735 COPS7A Synonymous SNV V34V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.44 200042 chr8 30705978 30705978 C T rs747588683 TEX15 Nonsynonymous SNV G569S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 200043 chr12 6935966 6935966 A G rs200776021 GPR162 Nonsynonymous SNV Y171C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.31 200044 chr12 7061221 7061221 T C rs200943423 PTPN6 Synonymous SNV F69F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.507 200045 chr12 7061266 7061266 T C rs186239082 PTPN6 Synonymous SNV G84G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.734 200046 chr3 36759618 36759618 G A rs187053045 DCLK3 Synonymous SNV L546L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.284 200047 chr12 72366306 72366306 C T rs17110563 TPH2 Nonsynonymous SNV P206S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.8 200048 chr17 26942153 26942153 G A KIAA0100 Nonsynonymous SNV R2070W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 200049 chr3 38125659 38125659 C T rs143610524 DLEC1 Nonsynonymous SNV A395V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.2 200050 chr3 38408326 38408326 A G XYLB Nonsynonymous SNV I42V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.785 200051 chr17 27944037 27944037 T C CORO6 Synonymous SNV A25A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.046 200052 chrX 18221677 18221677 T G rs148756419 BEND2 Nonsynonymous SNV N284T 0.003 0 0 2 3 0 0.005 0 0 0 0 1 13.34 200053 chrX 21450863 21450863 C G rs955403794 CNKSR2 Nonsynonymous SNV P121R 0.002 0 0 4 2 0 0.01 0 0 0 0 1 27.1 200054 chr17 2884541 2884541 A G rs201656017 RAP1GAP2 Nonsynonymous SNV K228R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.2 200055 chr3 40503523 40503523 - CTGCTG RPL14 A159_K160insAA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 200056 chr15 100214787 100214787 C G MEF2A Nonsynonymous SNV P126A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 200057 chr12 81769628 81769628 T C PPFIA2 Nonsynonymous SNV M261V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 200058 chr12 8200721 8200721 C T rs201863216 FOXJ2 Nonsynonymous SNV A354V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.17 200059 chr16 79632780 79632780 C T rs200671196 MAF Synonymous SNV E340E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 200060 chr14 54878409 54878409 G A rs150506068 CDKN3 Nonsynonymous SNV R94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21 200061 chr3 42907112 42907112 A T rs2228468 ACKR2 Nonsynonymous SNV Y373F 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.003 200062 chr16 815117 815117 G A rs201139558 MSLN Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 200063 chr17 34073226 34073226 G A rs75608951 GAS2L2 Synonymous SNV T430T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.626 200064 chr3 44843342 44843342 T C rs899523197 KIF15 Nonsynonymous SNV F462S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 200065 chr17 3458078 3458078 G A TRPV3 Nonsynonymous SNV P23S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.529 200066 chrX 48820063 48820063 A C rs142098952 KCND1 Nonsynonymous SNV S575A 0.001 0 0 2 1 0 0.005 0 0 0 0 1 14.36 200067 chr14 70634007 70634007 T C SLC8A3 Nonsynonymous SNV K378R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.337 200068 chr14 73980794 73980794 G A HEATR4 Nonsynonymous SNV T452I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.45 200069 chr3 49159156 49159156 C T rs150465100 LAMB2 Synonymous SNV T1687T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.17 200070 chr3 49568520 49568520 G A rs746894568 DAG1 Synonymous SNV T192T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.612 200071 chr3 49692882 49692882 C G rs1021981712 BSN Nonsynonymous SNV P1965A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.777 200072 chr14 74951284 74951284 T A NPC2 Nonsynonymous SNV Q66L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.405 200073 chr14 76045205 76045205 T C rs80001297 LOC102724153 0 0 0.017 0 0 0 0 5 0 0 1 0 Uncertain significance 6.596 200074 chr3 52021358 52021358 C T rs748602399 ABHD14A-ACY1, ACY1 Synonymous SNV S175S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.896 200075 chr3 52022794 52022794 G A rs146715684 ABHD14A-ACY1, ACY1 Synonymous SNV L266L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.129 200076 chr3 52454382 52454382 G A PHF7 Nonsynonymous SNV C115Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 200077 chr17 39394420 39394420 G T rs370391205 KRTAP9-8 Synonymous SNV V39V 0.003 0 0 0 4 0 0 0 0 0 0 0 8.51 200078 chr3 55733488 55733488 T C rs78776564 ERC2 Nonsynonymous SNV H920R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 200079 chr13 28830436 28830436 G A rs45575340 PAN3 Synonymous SNV S336S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 200080 chr13 28834625 28834625 C T rs45566937 PAN3 Synonymous SNV H430H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 200081 chr13 30097516 30097516 C A SLC7A1 Nonsynonymous SNV M312I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 200082 chr3 58108980 58108980 C T rs749249092 FLNB Nonsynonymous SNV S1096F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.8 200083 chr5 140077173 140077173 G A rs752472621 HARS2 Nonsynonymous SNV R262Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 25.1 200084 chr14 94849360 94849364 GTGCT - SERPINA1 S71Qfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 200085 chr15 49329823 49329823 A T rs143106959 SECISBP2L Synonymous SNV T56T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.939 200086 chr15 50189630 50189630 T C rs766459459 ATP8B4 Synonymous SNV R852R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.573 200087 chr15 50773824 50773824 C T rs139912757 USP8 Synonymous SNV L378L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 200088 chr17 40321553 40321553 C T rs201523967 KCNH4 Nonsynonymous SNV R511H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 200089 chr5 140553017 140553017 G T rs149003370 PCDHB7 Nonsynonymous SNV D201Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 200090 chr15 52645846 52645846 T C rs770710774 MYO5A Nonsynonymous SNV R1193G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 200091 chr14 98217891 98217891 G A rs999677199 LINC02312 0 0 0.003 0 0 0 0 1 0 0 0 0 1.686 200092 chr13 41947811 41947811 G A rs146611323 NAA16 Nonsynonymous SNV V732I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 200093 chr8 144790223 144790223 C T CCDC166 Synonymous SNV A19A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.02 200094 chr15 54308041 54308041 A G UNC13C Nonsynonymous SNV K981E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 200095 chr13 45914291 45914291 T C TPT1 Nonsynonymous SNV D10G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 200096 chr13 49089777 49089777 G A rs372873209 RCBTB2 Nonsynonymous SNV A24V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.19 200097 chr3 105421184 105421184 C T CBLB Synonymous SNV L522L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 200098 chr3 107517545 107517545 A G rs369406251 BBX Nonsynonymous SNV Y507C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.691 200099 chr15 25427358 25427358 G A rs76813478 SNHG14 0 0 0.014 0 0 0 0 4 0 0 0 0 2.534 200100 chr13 50656665 50656665 G A rs61733674 DLEU1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.46 200101 chr10 127519135 127519135 C T rs1043354216 BCCIP Nonsynonymous SNV T109M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 200102 chr15 28511015 28511015 G A rs143388037 HERC2 Synonymous SNV A568A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 15.09 200103 chr3 111697931 111697931 C A rs142771529 ABHD10 Nonsynonymous SNV A8D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 200104 chr13 73320742 73320742 G A rs748261221 BORA Synonymous SNV S274S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 200105 chr15 35085495 35085495 G A rs181479041 ACTC1 Synonymous SNV Y135Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.457 200106 chr15 67713715 67713715 G A rs142614145 IQCH Nonsynonymous SNV V362M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.458 200107 chr17 27064981 27064981 C - NEK8 G346Afs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 200108 chr17 27423856 27423856 C T MYO18A Synonymous SNV T1436T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 200109 chr10 134579321 134579321 G A INPP5A Synonymous SNV L252L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 200110 chr17 27903965 27903965 G A rs568213866 GIT1 Synonymous SNV H381H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 200111 chr8 145745751 145745751 T G rs201331155 LRRC14 Synonymous SNV G153G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.003 200112 chr13 99092386 99092386 C T rs145266208 FARP1 Synonymous SNV S842S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.48 200113 chr13 99630116 99630116 T C rs757006510 DOCK9 Synonymous SNV E16E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.929 200114 chr17 3324403 3324403 A G rs202196530 OR3A3 Nonsynonymous SNV N181S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 200115 chr14 101347691 101347691 C T rs963469004 RTL1 Synonymous SNV L1145L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 200116 chr17 4849954 4849954 G C PFN1 Synonymous SNV T98T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.678 200117 chr17 3379683 3379683 A G rs574328488 ASPA Nonsynonymous SNV N77S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 200118 chr17 48653549 48653549 A G rs772432409 CACNA1G Nonsynonymous SNV S596G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 200119 chr15 42644322 42644322 G A GANC Synonymous SNV E910E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 200120 chr10 21784406 21784406 C T rs964956453 MIR1915HG 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.35 200121 chr3 124456931 124456931 G A rs140804035 UMPS Nonsynonymous SNV S276N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.19 200122 chr17 3591359 3591359 G A rs146166049 P2RX5 Nonsynonymous SNV R286C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 200123 chr10 25313075 25313075 C T rs752725022 THNSL1 Nonsynonymous SNV A308V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.31 200124 chr14 105722841 105722841 C T rs748402251 BRF1 Nonsynonymous SNV R162H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.519 200125 chr14 105850736 105850736 C T rs143071112 PACS2 Synonymous SNV Y609Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 200126 chr3 126071429 126071429 C T KLF15 Nonsynonymous SNV A113T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 200127 chr15 83735839 83735839 G A rs113504890 BTBD1 Nonsynonymous SNV P22L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.84 200128 chr15 49059645 49059645 A C rs182018947 CEP152 Stop gain Y678X 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 36 200129 chr14 21467650 21467650 G T rs2234631 SLC39A2 Synonymous SNV L15L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.633 200130 chr14 21485878 21485878 G A rs34978161 NDRG2 Synonymous SNV A327A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.297 200131 chr14 21500218 21500218 C G rs76101114 TPPP2 Stop gain Y165X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 40 200132 chr3 133553429 133553429 G A rs370550098 RAB6B Synonymous SNV S184S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 200133 chr3 141499449 141499449 C T rs373421589 GRK7 Synonymous SNV N282N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.01 200134 chr10 46999335 46999335 A G GPRIN2 Nonsynonymous SNV H152R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 200135 chr14 24523494 24523494 C T rs766092347 CARMIL3 Nonsynonymous SNV T77M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 200136 chr15 66789360 66789360 T C rs114398553 MIR4512 0 0 0.007 0 0 0 0 2 0 0 0 0 0.292 200137 chr6 10671716 10671716 G A rs561653358 C6orf52 Synonymous SNV S144S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.114 200138 chr3 158300703 158300703 C T MLF1 Nonsynonymous SNV S27L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.47 200139 chr6 12121957 12121957 C T rs776760535 HIVEP1 Synonymous SNV H643H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 200140 chr17 39887792 39887792 A T HAP1 Nonsynonymous SNV L349H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 200141 chr15 76196871 76196871 G A FBXO22 Synonymous SNV L60L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 200142 chr16 11773303 11773303 - CGGGCCAGCTCCTGCAGCTCA TXNDC11 R423_K424insELQELAR 0.001 0.003 0 0 1 1 0 0 0 0 0 0 200143 chr17 42152771 42152771 C A G6PC3 Nonsynonymous SNV H170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 200144 chr17 42429396 42429396 C T rs148213321 GRN Nonsynonymous SNV S398L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.3 200145 chr15 80263255 80263255 T G rs138534762 BCL2A1 Synonymous SNV T69T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.581 200146 chr14 53619462 53619462 G A DDHD1 Nonsynonymous SNV P119S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.249 200147 chr3 186953717 186953717 A C MASP1 Nonsynonymous SNV F648V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 200148 chr3 192517136 192517136 T C rs749012361 MB21D2 Nonsynonymous SNV N172S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 200149 chr14 63174676 63174676 T C KCNH5 Synonymous SNV L839L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 200150 chr17 48165159 48165159 G A rs781633621 ITGA3 Nonsynonymous SNV E991K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 200151 chr15 89824510 89824510 A G rs145349375 FANCI Synonymous SNV Q497Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.449 200152 chr3 195595312 195595312 C T rs150996995 TNK2 Synonymous SNV P636P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.58 200153 chr15 90167334 90167334 A C rs773552828 TICRR Nonsynonymous SNV T1264P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.746 200154 chr3 196674237 196674237 C T rs142911383 PIGZ Nonsynonymous SNV A511T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.844 200155 chr10 85954545 85954545 C T rs750454492 CDHR1 Nonsynonymous SNV A10V 0 0 0 2 0 0 0.005 0 0 0 0 0 17.64 200156 chr14 73720546 73720546 C T rs145030220 PAPLN Synonymous SNV D393D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 200157 chr14 73727894 73727894 C T rs201066849 PAPLN Stop gain Q713X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 200158 chr16 2522416 2522416 C T rs779303286 NTN3 Synonymous SNV A238A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.798 200159 chr16 2812277 2812277 G T SRRM2 Nonsynonymous SNV R583M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 200160 chr17 79972975 79972975 C G rs867217268 ASPSCR1 Nonsynonymous SNV P460A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 200161 chr4 4276273 4276273 T G LYAR Nonsynonymous SNV Q218P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 200162 chr17 62050107 62050107 G T SCN4A Nonsynonymous SNV A32E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.12 200163 chr14 81557483 81557483 A T rs141293178 TSHR Nonsynonymous SNV I155L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.46 200164 chr6 47626776 47626776 A G rs189858209 ADGRF2 Nonsynonymous SNV K52R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.04 200165 chr14 81950631 81950631 G A rs143435364 SEL1L Nonsynonymous SNV H662Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 200166 chr6 47680335 47680335 G C rs140892790 ADGRF4 Nonsynonymous SNV E181D 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 3.764 200167 chr4 8229947 8229947 G A rs150084789 SH3TC1 Synonymous SNV P766P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.733 200168 chr14 89038523 89038523 T A rs771667109 ZC3H14 Nonsynonymous SNV S129T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 200169 chr16 16284103 16284103 C T rs72653772 ABCC6 Nonsynonymous SNV R518Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 29.1 200170 chr14 93142933 93142933 G A rs373028854 RIN3 Nonsynonymous SNV A742T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 200171 chr14 94567118 94567118 G A rs144379529 IFI27L1 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 23 200172 chr14 95035885 95035885 C A rs774315097 SERPINA4 Nonsynonymous SNV Q450K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.607 200173 chr16 47162278 47162278 G A rs758698142 NETO2 Nonsynonymous SNV L147F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 200174 chr18 3067542 3067542 G C rs1143658 MYOM1 Synonymous SNV L1496L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.135 200175 chr17 73127788 73127788 C A NT5C Synonymous SNV V5V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 200176 chr16 2891198 2891198 G A rs533013298 PRSS30P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.956 200177 chr16 49671074 49671074 C T rs143468235 ZNF423 Synonymous SNV A546A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.33 200178 chr17 73472771 73472771 A T TMEM94 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 200179 chr18 33795636 33795636 T C MOCOS Nonsynonymous SNV V498A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.932 200180 chr16 30369466 30369486 CCGCTCCTTCTCCTGTTTCTG - rs748942730 TBC1D10B Q736_R742del 0 0 0.003 0 0 0 0 1 0 0 0 0 200181 chr17 73811258 73811258 G A rs973927455 UNK Synonymous SNV K295K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.65 200182 chr18 43547183 43547183 T C rs764203340 EPG5 Nonsynonymous SNV Q8R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 200183 chr4 56847521 56847521 G A rs759199868 CEP135 Synonymous SNV K585K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 200184 chr4 56847522 56847522 G A rs765091582 CEP135 Nonsynonymous SNV E586K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 200185 chr4 57193946 57193946 C T rs201890665 CRACD Synonymous SNV S1226S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 200186 chr4 57425590 57425590 G A rs748868689 THEGL Nonsynonymous SNV R209H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 200187 chr4 57522141 57522141 G C HOPX Nonsynonymous SNV P9R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 200188 chr17 74068526 74068537 CTGCCGCCGCCG - rs751740834 SRP68 S16_G19del 0.001 0 0 0 1 0 0 0 0 0 0 0 200189 chr11 106856833 106856833 T C rs140464048 GUCY1A2 Nonsynonymous SNV K110E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.62 200190 chr4 66467732 66467732 G A rs55983743 EPHA5 Synonymous SNV A179A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.467 200191 chr4 68619618 68619618 G A rs144900788 GNRHR Nonsynonymous SNV P146S 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 200192 chr16 3169797 3169797 T A ZNF205 Nonsynonymous SNV L379Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 200193 chr15 35253005 35253005 T A rs766635227 AQR Nonsynonymous SNV D48V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 200194 chr4 73171758 73171758 G C rs199518563 ADAMTS3 Nonsynonymous SNV P736A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.142 200195 chr6 109578886 109578886 C T rs1035679975 CCDC162P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.129 200196 chr4 79207575 79207575 C T rs35690113 FRAS1 Synonymous SNV C472C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.295 200197 chr15 42145098 42145098 T C rs765359553 SPTBN5 Nonsynonymous SNV K3424R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 200198 chr15 42165808 42165808 T C rs201755073 SPTBN5 0 0.005 0.003 0 0 2 0 1 0 0 0 0 25 200199 chr4 81123301 81123301 A G PRDM8 Nonsynonymous SNV K229E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 200200 chr6 114379192 114379192 G T rs200605320 HS3ST5 Synonymous SNV L90L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.304 200201 chr6 114379193 114379193 A T rs201338991 HS3ST5 Nonsynonymous SNV L90H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 200202 chr11 117050131 117050131 A G SIDT2 Nonsynonymous SNV Y51C 0.002 0 0 4 2 0 0.01 0 0 0 0 0 26.6 200203 chr6 116950801 116950801 C T rs188903141 RSPH4A Synonymous SNV D578D 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 Likely benign 11.8 200204 chr15 42740644 42740644 A G rs148979493 ZNF106 Synonymous SNV L83L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.274 200205 chr15 43527911 43527911 G T TGM5 Nonsynonymous SNV S408R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 200206 chr16 57088968 57088968 C G rs373813453 NLRC5 Nonsynonymous SNV H1207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 200207 chr15 43656460 43656460 C A rs146772052 ZSCAN29 Nonsynonymous SNV R448M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 200208 chr17 78519487 78519487 G C RPTOR Nonsynonymous SNV D20H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 200209 chr10 15146057 15146057 C T rs150252368 RPP38 Synonymous SNV D248D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.729 200210 chr16 58032057 58032057 G A rs61995741 ZNF319 Nonsynonymous SNV P38L 0.001 0.008 0.01 0 1 3 0 3 0 0 0 0 13.34 200211 chr16 58550415 58550415 C T SETD6 Synonymous SNV G170G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 200212 chr16 58712363 58712363 G A rs148206922 SLC38A7 Nonsynonymous SNV A162V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 200213 chr11 120292542 120292542 C T rs113223215 ARHGEF12 Nonsynonymous SNV T91I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 31 200214 chr16 67318242 67318242 A T rs8044843 PLEKHG4 Nonsynonymous SNV D444V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 200215 chr17 79826640 79826640 G A ARHGDIA Synonymous SNV P205P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.14 200216 chr16 67985909 67985909 G A rs139395931 SLC12A4 Nonsynonymous SNV R319W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 200217 chr16 68387443 68387443 G A rs374121002 PRMT7 Nonsynonymous SNV V492M 0 0 0.003 0 0 0 0 1 0 0 0 0 18 200218 chr11 123624685 123624685 G A rs757827214 OR6X1 Nonsynonymous SNV P181L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25.1 200219 chr16 69400774 69400774 C T rs376057884 TERF2 Nonsynonymous SNV A426T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 200220 chr16 69481091 69481091 T C CYB5B Synonymous SNV G71G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.631 200221 chr4 106156650 106156650 A T rs890730281 TET2 Synonymous SNV P517P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 200222 chr4 106604070 106604070 C T rs145174807 INTS12 Synonymous SNV G403G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.942 200223 chr16 70548239 70548239 C T rs764006022 COG4 Synonymous SNV E177E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 200224 chr16 70698083 70698083 C T rs370854297 MTSS2 Nonsynonymous SNV A581T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.04 200225 chr16 711765 711765 G A rs202089109 WDR90 Nonsynonymous SNV R1281H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.021 200226 chr15 54305604 54305604 C T rs201832839 UNC13C Synonymous SNV D168D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 200227 chr15 55652244 55652244 G A rs201840284 CCPG1 Nonsynonymous SNV A576V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.403 200228 chr16 73127071 73127071 A G rs199599307 HCCAT5 0 0 0.003 0 0 0 0 1 0 0 0 0 8.277 200229 chr16 74774007 74774007 T C FA2H Nonsynonymous SNV M93V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 200230 chr19 10415860 10415860 G A rs202088522 ZGLP1 Synonymous SNV C241C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.301 200231 chr11 124743246 124743246 C T ROBO3 Nonsynonymous SNV S526F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.6 200232 chr19 10446557 10446557 G A rs769036423 ICAM3 Nonsynonymous SNV R147W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.9 200233 chr19 10577710 10577710 G A rs139163380 PDE4A Nonsynonymous SNV E453K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 200234 chr15 63088477 63088477 C A TLN2 Nonsynonymous SNV T2012N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 200235 chr10 46998961 46998961 C T rs143092173 GPRIN2 Synonymous SNV S27S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.74 200236 chr16 81279119 81279119 A G rs905894692 BCO1 Nonsynonymous SNV N35S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 200237 chr4 129208841 129208841 C T PGRMC2 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 200238 chr19 11034257 11034257 C T YIPF2 Nonsynonymous SNV V211M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.9 200239 chr15 64792041 64792041 G A rs759590758 ZNF609 Synonymous SNV K141K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.386 200240 chr16 83781762 83781762 A G CDH13 Nonsynonymous SNV N491D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 200241 chr16 88747506 88747506 G A rs142425800 SNAI3 Synonymous SNV H231H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.959 200242 chr11 126306794 126306794 G A rs367818668 KIRREL3 Synonymous SNV I488I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.06 200243 chr4 141294844 141294844 C T SCOC Nonsynonymous SNV L52F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.502 200244 chr19 11890956 11890956 G A rs140672079 ZNF441 Nonsynonymous SNV S106N 0.003 0.005 0.003 4 4 2 0.01 1 0 0 0 0 0.004 200245 chr15 65693149 65693149 C T rs768965705 IGDCC4 Nonsynonymous SNV R279Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 200246 chr16 88798228 88798228 G A rs150852918 PIEZO1 Nonsynonymous SNV R1028C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 200247 chr15 65962190 65962190 A G rs8036725 DENND4A Nonsynonymous SNV S1528P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.099 200248 chr10 50190586 50190586 G A rs979743794 WDFY4 Nonsynonymous SNV R3174K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.52 200249 chr11 134177046 134177046 A G GLB1L3 Nonsynonymous SNV Y302C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.4 200250 chr11 13721960 13721960 G A rs12793516 FAR1 Nonsynonymous SNV E96K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 23 200251 chr4 155250788 155250788 G A rs368981576 DCHS2 Nonsynonymous SNV R1269C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 200252 chr16 85667644 85667644 C T rs200241797 GSE1 Synonymous SNV P44P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 200253 chr15 72639003 72639003 T C rs1800430 HEXA Nonsynonymous SNV N399D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 6.164 200254 chr16 87432442 87432442 G A MAP1LC3B Nonsynonymous SNV R21Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 200255 chr16 89986149 89986149 G A rs541831292 MC1R Synonymous SNV A161A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.538 200256 chr18 42532290 42532290 G A rs369597949 SETBP1 Synonymous SNV P995P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.214 200257 chr4 156864398 156864398 G A rs559355629 CTSO Stop gain R52X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 200258 chr15 74467891 74467891 C T rs543753338 ISLR Nonsynonymous SNV A231V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 200259 chr16 88500211 88500211 C T rs1039243677 ZNF469 Synonymous SNV A2111A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.88 200260 chr17 10397754 10397754 G A rs201454258 MYH1 Nonsynonymous SNV R1862C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 200261 chr6 169641937 169641937 C T rs769039736 THBS2 Nonsynonymous SNV E271K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 200262 chr16 88793569 88793569 C G PIEZO1 Nonsynonymous SNV Q1111H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 200263 chr18 48513339 48513339 G A rs753289940 ELAC1 Nonsynonymous SNV E326K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 200264 chr18 51818379 51818379 A G rs145324633 POLI Nonsynonymous SNV T338A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.698 200265 chr16 89234740 89234740 C T rs532601923 LINC02138 0 0 0.007 0 0 0 0 2 0 0 0 0 5.132 200266 chr16 89234760 89234760 A G rs78538583 LINC02138 0 0 0.003 0 0 0 0 1 0 0 0 0 1.351 200267 chr16 89346885 89346885 G A rs373218212 ANKRD11 Nonsynonymous SNV P2022L 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Likely benign 16.02 200268 chr16 89825074 89825074 G A FANCA Synonymous SNV L964L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.577 200269 chr15 85382228 85382228 G A rs151295172 ALPK3 Nonsynonymous SNV V108M 0 0.003 0 0 0 1 0 0 0 0 0 0 28 200270 chr4 186339824 186339824 A G rs151018748 UFSP2 Synonymous SNV Y61Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.199 200271 chr10 75532495 75532495 C T rs568140030 FUT11 Nonsynonymous SNV P135L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 32 200272 chr18 6032271 6032271 C T rs192678072 L3MBTL4 Nonsynonymous SNV R483Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 200273 chr17 17782987 17782987 T C rs765936175 TOM1L2 Nonsynonymous SNV E96G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 200274 chr18 60384135 60384135 C A rs752571717 PHLPP1 Nonsynonymous SNV P407T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 200275 chr17 10707241 10707241 G A rs1078643 TMEM238L 0 0 0.007 0 0 0 0 2 0 0 1 0 6.677 200276 chr17 14110493 14110493 C T rs573201186 COX10 Nonsynonymous SNV P432L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.575 200277 chr11 284321 284321 C T rs549768691 NLRP6 Nonsynonymous SNV H764Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.81 200278 chr19 17838696 17838696 C T rs753051379 MAP1S Nonsynonymous SNV P809S 0.004 0 0 0 5 0 0 0 0 0 0 0 22.7 200279 chr17 16004659 16004659 T C NCOR1 Synonymous SNV Q772Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.188 200280 chr5 434046 434046 A G AHRR Synonymous SNV T401T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 200281 chr5 453796 453796 A C EXOC3 Nonsynonymous SNV I226L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 200282 chr17 19642408 19642408 C A ALDH3A1 Nonsynonymous SNV V373L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 200283 chr15 89444960 89444960 G A MFGE8 Nonsynonymous SNV A187V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 200284 chr19 17918772 17918772 - GCCCCC B3GNT3 P52_P53insAP 0.001 0 0 0 1 0 0 0 0 0 0 0 200285 chr19 17918776 17918776 A C B3GNT3 Nonsynonymous SNV T54P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 200286 chr15 90210969 90210969 C G PLIN1 Nonsynonymous SNV R276T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.169 200287 chr17 18061071 18061071 C T rs199820816 MYO15A Nonsynonymous SNV R2942C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 200288 chr17 18152667 18152667 G A rs138059393 FLII Nonsynonymous SNV T556I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25 200289 chr17 18188789 18188789 C T rs151096656 TOP3A Nonsynonymous SNV R453Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 200290 chr18 77513685 77513685 C T rs141794158 CTDP1 Synonymous SNV A808A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 200291 chr17 263256 263256 - ACCCCGAGGCCCTCAAGGGCTTCCACCCCA C17orf97 P217_D218insNPEALKGFHP 0.003 0 0 0 4 0 0 0 0 0 0 0 200292 chr17 263475 263475 G A rs9891763 C17orf97 Nonsynonymous SNV A281T 0.002 0.008 0 1 2 3 0.003 0 0 1 0 0 1.356 200293 chr17 21318982 21318982 G A rs782219305 KCNJ12, KCNJ18 Nonsynonymous SNV G110S 0 0 0.014 0 0 0 0 4 0 0 0 0 25.6 200294 chr17 27183321 27183321 C T ERAL1 Nonsynonymous SNV P108L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 200295 chr16 11035599 11035599 G A rs775119065 DEXI Synonymous SNV D88D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 200296 chr17 2901517 2901517 C T rs964736320 RAP1GAP2 Synonymous SNV L334L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 200297 chr16 1251831 1251831 C T rs57112868 CACNA1H Synonymous SNV L461L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.71 200298 chr17 27910621 27910621 T C rs750770705 GIT1 Synonymous SNV A22A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.327 200299 chr19 10961221 10961221 G A C19orf38 Synonymous SNV E106E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.697 200300 chr17 33880456 33880456 C T SLFN14 Synonymous SNV Q399Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 200301 chr17 3417933 3417933 C G rs367945092 TRPV3 Synonymous SNV T744T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 200302 chr5 65317206 65317206 C T rs146136641 ERBIN Nonsynonymous SNV T197M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 200303 chr19 13051130 13051130 G C rs147369833 CALR Nonsynonymous SNV S189T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.88 200304 chr19 13873831 13873831 C G CCDC130 Nonsynonymous SNV C235W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 200305 chr19 13988392 13988392 C T rs767561782 NANOS3 Synonymous SNV Y110Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 200306 chr19 1467101 1467101 G A rs527752378 APC2 Synonymous SNV K1266K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.463 200307 chr16 24573337 24573337 C T rs149108517 RBBP6 Nonsynonymous SNV P382S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 200308 chr17 3848004 3848004 G A rs150494084 ATP2A3 Synonymous SNV Y427Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.207 200309 chr19 1511630 1511630 G A rs535231144 ADAMTSL5 Nonsynonymous SNV T17M 0.002 0 0 0 2 0 0 0 0 0 0 0 9.696 200310 chr17 39092592 39092592 C T rs777960572 KRT23 Synonymous SNV E88E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 200311 chr16 28967360 28967360 C T rs149606880 NFATC2IP Nonsynonymous SNV R214W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 200312 chr17 39340793 39340844 GGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGC - KRTAP4-1 S82_P86delinsR 0 0 0.003 0 0 0 0 1 0 0 0 0 200313 chr10 124189326 124189326 C A rs141904579 PLEKHA1 Nonsynonymous SNV P363T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.906 200314 chr16 29848240 29848240 G A rs747299574 MVP Synonymous SNV P290P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 200315 chr19 4037723 4037723 G A rs140558761 PIAS4 Synonymous SNV P461P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 6.056 200316 chr19 16614052 16614052 G A rs552450410 C19orf44 Synonymous SNV P312P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.248 200317 chr17 39659025 39659025 T C KRT13 Nonsynonymous SNV M313V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.072 200318 chr16 3140594 3140594 C T rs200881850 ZSCAN10 Nonsynonymous SNV G144R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.97 200319 chr16 3297085 3297085 G A rs104895099 MEFV Synonymous SNV I295I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 7.268 200320 chr19 42778626 42778626 C T rs542986003 CIC Synonymous SNV A897A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.751 200321 chr19 42912146 42912146 G A rs142745694 LIPE Synonymous SNV T546T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.136 200322 chr10 135015069 135015069 G A rs191568937 KNDC1 Synonymous SNV S1018S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.579 200323 chr16 4310558 4310558 G C TFAP4 Synonymous SNV L188L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.17 200324 chr19 19017813 19017813 C T rs144263715 COPE Synonymous SNV P133P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 200325 chr17 42433562 42433562 A G FAM171A2 Nonsynonymous SNV W253R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 200326 chr16 50785695 50785695 C T rs751380834 CYLD Nonsynonymous SNV P229S 0 0.003 0 0 0 1 0 0 0 0 0 0 25 200327 chr17 4488207 4488207 C G rs538037200 SMTNL2 Nonsynonymous SNV P103A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.731 200328 chr5 122515961 122515961 C T rs182786843 PRDM6 Synonymous SNV A539A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 19.49 200329 chr17 4635090 4635090 G A rs139432286 MED11 Synonymous SNV L35L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 200330 chr17 46804239 46804239 C T rs917899187 HOXB13 Synonymous SNV S256S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 200331 chr19 2853582 2853583 CT - rs768660239 ZNF555 Stop gain Y507* 0.002 0 0 0 2 0 0 0 0 0 0 0 200332 chr16 67000218 67000220 AGG - CES3 G298del 0 0.003 0 0 0 1 0 0 0 0 0 0 200333 chr16 67709567 67709567 C T rs566819045 GFOD2 Nonsynonymous SNV V217I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.17 200334 chr17 5085530 5085530 A G rs57456705 ZNF594 Synonymous SNV H674H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.01 200335 chr17 48148744 48148744 G A rs745505565 ITGA3 Nonsynonymous SNV R274Q 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 35 200336 chr17 5087054 5087054 T G rs59197486 ZNF594 Nonsynonymous SNV Q166H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.75 200337 chr5 138208829 138208829 T C rs147794069 LRRTM2 Nonsynonymous SNV H474R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.251 200338 chr17 49098616 49098616 G A rs763174207 SPAG9 Synonymous SNV N141N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.249 200339 chr17 56436130 56436130 C T rs199598395 RNF43 Nonsynonymous SNV G209D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 200340 chr16 71885329 71885329 A C ATXN1L Nonsynonymous SNV Q562H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 200341 chr5 140256807 140256807 T C rs199811254 PCDHA12 Nonsynonymous SNV S584P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.833 200342 chr16 72831708 72831708 G A ZFHX3 Nonsynonymous SNV R711W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 200343 chr17 59946692 59946692 A T INTS2 Nonsynonymous SNV M1027K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 200344 chr17 60088197 60088197 A G rs373796910 MED13 Nonsynonymous SNV Y561H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 200345 chr16 74985418 74985418 G C WDR59 Stop gain Y88X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 200346 chr17 56350864 56350864 C T rs370090361 MPO Nonsynonymous SNV R511H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 200347 chr5 140778262 140778262 A G rs753760185 PCDHGB5 Nonsynonymous SNV K190E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.993 200348 chr11 5631454 5631454 A T rs748033613 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV R110W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 200349 chr19 371319 371319 C T rs148449701 THEG Synonymous SNV T189T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.523 200350 chr5 140869595 140869595 G A rs752883792 PCDHGC5 Nonsynonymous SNV R263H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.327 200351 chr19 49378882 49378882 C T rs548393011 PPP1R15A Synonymous SNV S559S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.05 200352 chr7 103234828 103234828 G C rs56342240 RELN Nonsynonymous SNV I1217M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 200353 chr19 38056144 38056144 A T rs201763648 ZNF571 Nonsynonymous SNV C396S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 200354 chr7 106877086 106877086 T C rs746657630 COG5 Nonsynonymous SNV M644V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 200355 chr19 38948708 38948708 T C RYR1 Nonsynonymous SNV F648S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 200356 chr19 50305818 50305818 C T rs200480269 AP2A1 Synonymous SNV S714S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 14.1 200357 chr7 113558950 113558950 T C rs192886335 PPP1R3A Synonymous SNV Q34Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.004 200358 chr17 7210413 7210413 C T rs765969535 EIF5A Synonymous SNV H16H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 200359 chr19 40097959 40097959 T C rs193269928 LGALS13 Nonsynonymous SNV S134P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 200360 chr7 123269120 123269120 G A rs370081452 ASB15 Nonsynonymous SNV V358I 0 0.003 0 0 0 1 0 0 0 0 0 0 26 200361 chr5 150498939 150498939 C T rs200384516 ANXA6 Nonsynonymous SNV D422N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 200362 chr11 58979628 58979628 G C rs781034009 MPEG1 Synonymous SNV T237T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 200363 chr19 51584890 51584890 C T rs370532692 KLK14 Synonymous SNV P37P 0.003 0 0 0 4 0 0 0 0 0 0 0 14.73 200364 chr17 73564696 73564696 C T rs747320876 LLGL2 Synonymous SNV H392H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.45 200365 chr5 156592575 156592575 A T FAM71B Nonsynonymous SNV V202E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 200366 chr19 42754632 42754632 C A rs1051849829 ERF Synonymous SNV L36L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 200367 chr19 42866672 42866672 C T MEGF8 Nonsynonymous SNV A1927V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 200368 chr17 73780975 73780975 C G UNK Nonsynonymous SNV P5R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 200369 chr17 74004043 74004043 G T rs149028614 EVPL Nonsynonymous SNV S1770Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.6 200370 chr7 138764741 138764741 T G rs142490389 ZC3HAV1 Nonsynonymous SNV T316P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.99 200371 chr16 88787645 88787645 G C PIEZO1 Nonsynonymous SNV T1866R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.264 200372 chr17 74721615 74721615 T C rs781435686 JMJD6 Nonsynonymous SNV K151R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.307 200373 chr5 170818325 170818325 G T NPM1 Nonsynonymous SNV G52V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 200374 chr16 89347634 89347634 C T rs142332018 ANKRD11 Synonymous SNV S1772S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 7.738 200375 chr16 89348666 89348666 T G rs761134136 ANKRD11 Nonsynonymous SNV K1428N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 200376 chr7 142983699 142983699 G A rs61737885 TMEM139 Nonsynonymous SNV R143Q 0.003 0.01 0.01 1 4 4 0.003 3 0 0 0 0 16.09 200377 chr19 53454022 53454022 T C rs200988588 ZNF816 Nonsynonymous SNV T336A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 200378 chr5 176026665 176026665 G C rs139277418 GPRIN1 Synonymous SNV P57P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 200379 chr5 176305555 176305555 G A rs769542258 UNC5A Nonsynonymous SNV S700N 0.003 0 0 0 3 0 0 0 0 0 0 0 16.02 200380 chr17 10429139 10429139 G A rs146615128 MYH2 Synonymous SNV N1414N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.08 200381 chr17 77758664 77758664 C G rs782635663 CBX2 Synonymous SNV A474A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.47 200382 chr17 78023975 78023975 G A rs61736668 CCDC40 Nonsynonymous SNV R351H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 200383 chr7 149500877 149500877 G T rs147946170 SSPO 0.002 0.008 0.003 1 2 3 0.003 1 0 0 0 0 16.27 200384 chr19 54710148 54710148 C T rs373884707 RPS9 Synonymous SNV N34N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.98 200385 chr17 12659790 12659790 C T rs111358990 MYOCD Synonymous SNV H706H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 7.738 200386 chr5 179105699 179105699 T C rs200177340 CBY3 Nonsynonymous SNV N205S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.809 200387 chr17 79256004 79256004 G A rs150309813 SLC38A10 Synonymous SNV T162T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 200388 chr19 46627249 46627249 A G IGFL3 Nonsynonymous SNV C82R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 200389 chr19 55693163 55693163 C T rs556509298 PTPRH Nonsynonymous SNV E925K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 200390 chr17 80109445 80109445 G A rs563102725 CCDC57 Stop gain R324X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 200391 chr17 80196754 80196754 G T rs145403102 SLC16A3 Nonsynonymous SNV A434S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 200392 chr17 80895184 80895184 A C rs777399611 TBCD Nonsynonymous SNV K1077Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.078 200393 chr17 19871750 19871750 G A rs370198483 AKAP10 Nonsynonymous SNV T38I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 200394 chr6 4996521 4996521 T C rs766786498 RPP40 Synonymous SNV P208P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 200395 chr17 812940 812940 G A rs7214744 LOC101927727 0 0 0.031 0 0 0 0 9 0 0 3 0 4.284 200396 chr19 48558213 48558213 C T rs780585013 PLA2G4C Nonsynonymous SNV A461T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 200397 chr17 8448855 8448855 G A MYH10 Nonsynonymous SNV H438Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 200398 chr19 48660361 48660361 G A rs139413667 LIG1 Nonsynonymous SNV R64C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.1 200399 chr6 7582993 7582993 A T rs78652302 DSP Nonsynonymous SNV E1234V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 29.2 200400 chr19 49001897 49001897 C G rs750313223 LMTK3 Nonsynonymous SNV G839A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 200401 chr17 78109870 78109870 G A rs374961147 EIF4A3 Synonymous SNV D384D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.714 200402 chr19 49183551 49183551 A T rs781415341 SEC1P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.696 200403 chr19 49206286 49206286 A G rs1800021 FUT2 Nonsynonymous SNV I25V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 200404 chr6 16326847 16326847 C T rs146373716 ATXN1 Synonymous SNV A565A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 5.756 200405 chr8 11666218 11666218 - TCCCACTCCCACTCCCAC FDFT1 S77_C78insHSHSHS 0 0.005 0 2 0 2 0.005 0 0 1 0 1 200406 chr6 17675851 17675851 C T rs200137545 NUP153 Nonsynonymous SNV G162E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 200407 chr6 24651061 24651061 A C rs143596142 TDP2 Synonymous SNV P348P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 0.667 200408 chr17 26732421 26732421 G T rs371270310 SLC46A1 Synonymous SNV L98L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.72 200409 chr17 79914908 79914908 A G NOTUM Synonymous SNV A246A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.694 200410 chr6 25600855 25600855 C T rs371621524 CARMIL1 Nonsynonymous SNV R1145W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 200411 chr17 28593933 28593933 T C BLMH Nonsynonymous SNV N396D 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 200412 chr18 32844241 32844241 C T rs564167554 ZSCAN30 Nonsynonymous SNV E26K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 200413 chr17 29161253 29161253 A C rs139839085 ATAD5 Synonymous SNV R52R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 200414 chr19 58639803 58639803 C T rs116205903 ZNF329 Synonymous SNV S356S 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 14.73 200415 chr19 58849894 58849894 G A rs139239773 ZSCAN22 Nonsynonymous SNV R221Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.5 200416 chr8 23152336 23152336 A G R3HCC1 Nonsynonymous SNV Q384R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 25.9 200417 chr19 51483152 51483152 C A KLK7 Synonymous SNV V94V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.389 200418 chr6 33631640 33631640 C T rs2229631 ITPR3 Synonymous SNV T377T 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 12.29 200419 chr11 73997030 73997030 G A rs201421233 P4HA3 Nonsynonymous SNV P312S 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 18.55 200420 chr17 34958640 34958640 C T rs114566242 MRM1 Nonsynonymous SNV A134V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.776 200421 chr17 35310422 35310422 G A rs28656116 AATF Nonsynonymous SNV E174K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 200422 chr6 35287626 35287626 G A rs752715194 DEF6 Synonymous SNV K471K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.74 200423 chr11 75160929 75160929 C T GDPD5 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 200424 chr18 55315887 55315887 C A ATP8B1 Nonsynonymous SNV V1197L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.3 200425 chr17 36619176 36619176 C T rs201978800 ARHGAP23 Nonsynonymous SNV R115C 0 0.008 0 0 0 3 0 0 0 0 0 0 23.4 200426 chr8 37697105 37697105 A G rs61745949 ADGRA2 Nonsynonymous SNV I826V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 18.54 200427 chr11 77590007 77590007 A G rs764036133 INTS4 Synonymous SNV P960P 0 0 0 2 0 0 0.005 0 0 0 0 0 11.54 200428 chr11 82443625 82443625 G A rs577562909 FAM181B Nonsynonymous SNV P383S 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 23.9 200429 chr17 38975170 38975170 G A rs529995365 KRT10 Synonymous SNV G539G 0 0.005 0 0 0 2 0 0 0 0 0 0 11.72 200430 chr17 39023057 39023057 T C rs149532038 KRT12 Nonsynonymous SNV T128A 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 200431 chr18 3135692 3135692 T A rs188677538 MYOM1 Nonsynonymous SNV T688S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 27.7 200432 chr6 43222362 43222362 C T rs7743427 TTBK1 Synonymous SNV Y183Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.35 200433 chr6 43269386 43269386 C A rs35385682 SLC22A7 Synonymous SNV R337R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 200434 chr6 43316268 43316268 T C rs756450411 ZNF318 Nonsynonymous SNV I956V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 200435 chr17 39383322 39383322 A G rs200622888 KRTAP9-2 Nonsynonymous SNV N139S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 200436 chr19 54676748 54676748 C A TMC4 Nonsynonymous SNV R22L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 200437 chr17 3945772 3945772 T C rs146238331 ZZEF1 Nonsynonymous SNV Q2086R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.42 200438 chr18 43675069 43675069 A G ATP5F1A Nonsynonymous SNV F30S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 200439 chr19 1004723 1004723 C A rs144402697 GRIN3B Nonsynonymous SNV P408Q 0.001 0.005 0.003 2 1 2 0.005 1 0 1 0 0 0.001 200440 chr6 47580242 47580242 A G rs867686203 CD2AP Synonymous SNV E616E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.377 200441 chr11 94554698 94554698 G A rs773855698 AMOTL1 Nonsynonymous SNV R325H 0 0 0 1 0 0 0.003 0 0 0 0 0 26 200442 chr19 1049328 1049328 G C ABCA7 Nonsynonymous SNV R815P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.343 200443 chr6 55620457 55620457 G A rs377102290 BMP5 Synonymous SNV H376H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.272 200444 chr19 1071310 1071310 A G rs543175539 ARHGAP45 Nonsynonymous SNV H8R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.762 200445 chr12 104379507 104379507 - AGAGCGTGGAGT rs755752157 TDG 0 0.003 0 1 0 1 0.003 0 0 0 0 0 200446 chr6 56484389 56484389 C T rs144396052 DST Synonymous SNV G1481G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 12.09 200447 chr17 42744263 42744263 C T MEIOC Synonymous SNV Y328Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.57 200448 chr19 9524405 9524405 G C ZNF266 Nonsynonymous SNV T399R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.943 200449 chr19 1275753 1275753 G C FAM174C Nonsynonymous SNV A69P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.667 200450 chr8 134144176 134144176 C T rs752004730 TG Synonymous SNV H2661H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.61 200451 chr19 12878645 12878645 C A rs201650115 HOOK2 Nonsynonymous SNV G430W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 200452 chr19 13056810 13056810 G A rs1052508515 RAD23A Synonymous SNV K16K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 200453 chr6 88227960 88227960 C T rs769853119 RARS2 Nonsynonymous SNV G305R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.1 200454 chr12 112686181 112686181 T C rs370522257 HECTD4 Synonymous SNV L1372L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.843 200455 chr19 14584673 14584673 C T rs549754915 PTGER1 Nonsynonymous SNV A154T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 200456 chr6 90576717 90576717 T A rs763162486 CASP8AP2 Nonsynonymous SNV N1236K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 200457 chr17 4799621 4799621 T G MINK1 Nonsynonymous SNV I1163S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 200458 chr12 113907109 113907109 G A LHX5 Nonsynonymous SNV S72L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 200459 chr19 1556422 1556422 G A MEX3D Nonsynonymous SNV L366F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 200460 chr19 16136263 16136263 C - rs150364095 LINC00661 0 0 0.003 0 0 0 0 1 0 0 0 0 200461 chr19 16136265 16136265 C G rs572179610 LINC00661 0 0 0.003 0 0 0 0 1 0 0 0 0 1.996 200462 chr8 144941940 144941940 G A rs73715514 EPPK1 Synonymous SNV L1828L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.014 200463 chr19 16146435 16146435 C T rs142753249 LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 5.575 200464 chr8 144943643 144943643 G A rs116243555 EPPK1 Nonsynonymous SNV A1260V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 200465 chr8 144995559 144995559 G C rs62641758 PLEC Nonsynonymous SNV I2796M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 24.6 200466 chr19 16899930 16899930 G A rs145720941 NWD1 Nonsynonymous SNV A751T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 200467 chr8 144998175 144998175 C G rs202190540 PLEC Nonsynonymous SNV Q1960H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 13.5 200468 chr6 116833304 116833304 T G CALHM5 Nonsynonymous SNV C149G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 200469 chr19 17057888 17057888 G A rs200366435 CPAMD8 Synonymous SNV I886I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.41 200470 chr19 1046992 1046992 T A ABCA7 Nonsynonymous SNV L605H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.6 200471 chr6 128135058 128135058 C T rs368013855 THEMIS Nonsynonymous SNV R243H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 200472 chr6 129929180 129929180 T C rs34386438 ARHGAP18 Synonymous SNV L380L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.335 200473 chr12 124171489 124171489 C T rs376996387 TCTN2 Nonsynonymous SNV T223M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.256 200474 chr17 60802372 60802372 G A rs111291268 MARCHF10 Synonymous SNV C677C 0 0.005 0.007 0 0 2 0 2 0 0 0 0 9.943 200475 chr19 758143 758143 C T rs780509550 MISP Synonymous SNV L399L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.13 200476 chr19 7742598 7742598 G A rs149042484 MCEMP1 Nonsynonymous SNV R57Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 200477 chr6 135763841 135763841 G A rs150425546 AHI1 Synonymous SNV I597I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.63 200478 chr6 135786977 135786977 G A rs143522987 AHI1 Nonsynonymous SNV P242S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.041 200479 chr19 814975 814975 G A rs756858510 PLPPR3 Synonymous SNV Y170Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.016 200480 chr17 62265738 62265738 G A rs761252100 TEX2 Synonymous SNV S738S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.38 200481 chr17 62547780 62547780 T C SMURF2 Synonymous SNV Q597Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.401 200482 chr17 62576908 62576908 A G SMURF2 Synonymous SNV Y257Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.02 200483 chr12 12814177 12814177 A T rs963559128 GPR19 Synonymous SNV L402L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.273 200484 chr1 12262050 12262050 G A TNFRSF1B Synonymous SNV R309R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.501 200485 chr6 143089659 143089659 C T rs200547940 HIVEP2 Synonymous SNV A1734A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.87 200486 chr19 19680364 19680364 G A rs199673541 PBX4 Nonsynonymous SNV A221V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 200487 chr12 132241082 132241082 A G rs34744641 SFSWAP Nonsynonymous SNV E538G 0 0 0 2 0 0 0.005 0 0 0 0 0 19.24 200488 chr17 65103448 65103448 A G rs546893095 HELZ Nonsynonymous SNV L1694P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 200489 chr12 132414584 132414584 C G rs140067992 PUS1 Synonymous SNV L41L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.313 200490 chr12 132466815 132466815 C T rs141312270 EP400 Nonsynonymous SNV A574V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 22.6 200491 chr19 2132534 2132534 G A rs771788983 AP3D1 Nonsynonymous SNV T133M 0 0 0.007 0 0 0 0 2 0 0 0 0 25.3 200492 chr19 1481851 1481851 G A rs2668437 PCSK4 Synonymous SNV C725C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.795 200493 chr12 132636695 132636695 A G rs759625617 NOC4L Nonsynonymous SNV M462V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 200494 chr6 151161438 151161438 G A rs1020538581 PLEKHG1 Synonymous SNV L1149L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.697 200495 chr17 67132351 67132351 G A rs144876793 ABCA6 Synonymous SNV D114D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.121 200496 chr19 23406791 23406791 G A rs201600731 ZNF724 Nonsynonymous SNV R86W 0 0 0.003 0 0 0 0 1 0 0 0 0 1.094 200497 chr19 23415006 23415006 G A rs201209285 ZNF724 Synonymous SNV N31N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.425 200498 chr19 23544656 23544656 C A rs200420271 ZNF91 Nonsynonymous SNV E343D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 200499 chr17 67280184 67280184 T C rs140430746 ABCA5 Nonsynonymous SNV N768D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 5.07 200500 chr17 67293363 67293363 A C rs114790500 ABCA5 Nonsynonymous SNV S469A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.49 200501 chr17 67300925 67300925 C G rs142041366 ABCA5 Nonsynonymous SNV S272T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.53 200502 chr6 152576150 152576150 T G rs749079132 SYNE1 Synonymous SNV P6374P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.931 200503 chr19 24310138 24310138 T G ZNF254 Nonsynonymous SNV S361A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.215 200504 chr6 152651098 152651098 T G rs750417575 SYNE1 Nonsynonymous SNV S4837R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.606 200505 chr19 1622121 1622121 C T rs371753641 TCF3 Nonsynonymous SNV G252S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.88 200506 chr12 25164308 25164308 C T rs117490431 LOC645177 Nonsynonymous SNV S231L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.98 200507 chr12 25170101 25170101 C T rs952175295 LOC645177 Synonymous SNV D354D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.401 200508 chr17 72470704 72470704 C T rs139953037 CD300A Nonsynonymous SNV A25V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.615 200509 chr19 920718 920718 C A rs371771794 KISS1R Stop gain C389X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 200510 chr19 36245363 36245363 C T rs539383447 LIN37 Synonymous SNV Y229Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.297 200511 chr19 36357375 36357375 G A rs748712036 KIRREL2 Nonsynonymous SNV R653H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 200512 chr19 9362589 9362589 G C rs768175906 OR7E24 Nonsynonymous SNV M290I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.63 200513 chr12 304397 304397 C A SLC6A12 Nonsynonymous SNV V475L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 200514 chr6 167753774 167753774 C T rs149637219 TTLL2 Nonsynonymous SNV S129F 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 200515 chr6 168479664 168479664 G C rs150027817 FRMD1 Nonsynonymous SNV C37W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.591 200516 chr6 169648775 169648775 C T rs146466309 THBS2 Nonsynonymous SNV V116I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 200517 chr19 1854701 1854701 G A rs76157530 KLF16 Synonymous SNV D172D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.475 200518 chr1 10719923 10719923 G A rs375499155 CASZ1 Synonymous SNV T392T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.246 200519 chr9 96312877 96312877 G A rs140835753 FAM120A Synonymous SNV P725P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.67 200520 chr9 97055284 97055284 C T rs371073394 ZNF169 Synonymous SNV I63I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.84 200521 chr19 19766929 19766929 C T rs200186450 ATP13A1 Nonsynonymous SNV V383I 0.003 0 0 0 3 0 0 0 0 0 0 0 11.63 200522 chr7 2394960 2394960 C T rs763850627 EIF3B Nonsynonymous SNV A135V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 200523 chr19 2116616 2116616 T C rs73512353 AP3D1 Synonymous SNV E663E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.032 200524 chr1 110051013 110051013 A G rs752372283 AMIGO1 Synonymous SNV P174P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 200525 chr17 75192333 75192333 G A rs371887929 SEC14L1 Synonymous SNV P219P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.756 200526 chr19 2226556 2226556 G A rs951636242 DOT1L Nonsynonymous SNV G1346S 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 16.4 200527 chr17 76449484 76449484 G A rs145480120 DNAH17 Synonymous SNV G3490G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 200528 chr1 161018303 161018303 C G ARHGAP30 Nonsynonymous SNV K659N 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 17.94 200529 chr19 2767210 2767210 C T rs77882038 SGTA Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.58 200530 chr19 2833748 2833748 G A rs113785323 ZNF554 Nonsynonymous SNV S172N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 200531 chr19 2853803 2853803 G A rs73517582 ZNF555 Synonymous SNV R579R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.407 200532 chr19 2918176 2918176 C T rs61742123 ZNF57 Synonymous SNV F487F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.025 200533 chr17 78319314 78319314 T C rs759726740 RNF213 Synonymous SNV Y2393Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 200534 chr7 26404717 26404717 G A rs764873244 SNX10 Nonsynonymous SNV R4H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 200535 chr19 4491612 4491612 C A rs762741552 HDGFL2 Nonsynonymous SNV A180D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 200536 chr1 1226891 1226891 G A SCNN1D Synonymous SNV G770G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.112 200537 chr1 12336823 12336823 G A rs200303790 VPS13D Nonsynonymous SNV D1060N 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.002 200538 chr7 31013712 31013712 G T GHRHR Nonsynonymous SNV S237I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 200539 chr7 31877538 31877538 G C rs767668698 PDE1C Nonsynonymous SNV S343C 0.002 0 0 0 2 0 0 0 0 0 0 0 29 200540 chr17 79898856 79898856 G A rs375074526 MYADML2 Synonymous SNV F254F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.776 200541 chr17 79911049 79911049 T C rs141138398 NOTUM Nonsynonymous SNV T427A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.001 200542 chr17 79987501 79987501 G A rs117249618 LRRC45 Nonsynonymous SNV R495H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 200543 chr1 149858812 149858812 G A rs146960466 H2AC20 Synonymous SNV K96K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 200544 chr1 150129585 150129585 G A rs138447368 PLEKHO1 Nonsynonymous SNV V144I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 200545 chr17 8053929 8053929 C T rs761104766 PER1 Synonymous SNV Q32Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.99 200546 chr12 56088723 56088723 G T rs142326016 ITGA7 Nonsynonymous SNV L231M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 21 200547 chr9 130145772 130145772 A G rs62579716 GARNL3 Synonymous SNV Q739Q 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.28 200548 chr11 118471365 118471365 G C ARCN1 Nonsynonymous SNV G403A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.92 200549 chr19 49302983 49302983 G C rs150646107 BCAT2 Nonsynonymous SNV P123R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 24.6 200550 chr18 13826256 13826256 C T rs45575841 MC5R Synonymous SNV A164A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.492 200551 chr19 50119427 50119427 A G rs775604958 PRR12 Synonymous SNV P1816P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.838 200552 chr19 42482395 42482395 T C rs782415633 ATP1A3 Nonsynonymous SNV N583D 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 17.02 200553 chr1 155736438 155736440 TCC - rs780088863 GON4L G942del 0.001 0 0 0 1 0 0 0 0 0 0 0 200554 chr1 19503117 19503117 T C rs144957631 UBR4 Synonymous SNV V914V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 7.485 200555 chr1 156214643 156214643 A G PAQR6 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 6.76 200556 chr18 28934581 28934581 G A rs757502339 DSG1 Nonsynonymous SNV V808I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.218 200557 chr7 73279521 73279521 G C rs372278877 TMEM270 Nonsynonymous SNV V91L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.208 200558 chr18 2926779 2926779 A G rs150022314 LPIN2 Nonsynonymous SNV S579P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.44 200559 chr1 156551672 156551672 A C TTC24 Synonymous SNV L172L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.471 200560 chr11 124135277 124135277 A T OR8G5 Synonymous SNV V185V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 200561 chr7 75511193 75511193 C G RHBDD2 Synonymous SNV S75S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 200562 chr1 156622269 156622269 G A rs1053513615 BCAN Synonymous SNV A509A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.985 200563 chr7 82582112 82582112 T C rs770277765 PCLO Synonymous SNV G2719G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 200564 chr18 39593499 39593504 AGTCAG - rs771605485 PIK3C3 Q360_S361del 0 0.003 0 0 0 1 0 0 0 0 0 0 200565 chr1 158517686 158517686 G A rs368061672 OR6Y1 Synonymous SNV H70H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.824 200566 chr1 158532695 158532695 G A rs752851619 OR6P1 Nonsynonymous SNV R234C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 200567 chr19 52716083 52716083 G A PPP2R1A Synonymous SNV E37E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.58 200568 chr1 158632587 158632587 A G SPTA1 Nonsynonymous SNV L790S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.044 200569 chr12 675333 675333 G A rs749908274 NINJ2 Synonymous SNV S8S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.386 200570 chr7 98645439 98645439 G T SMURF1 Nonsynonymous SNV D340E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 200571 chr19 53793888 53793888 C A rs12609791 BIRC8 0 0 0.014 0 0 0 0 4 0 0 0 0 3.881 200572 chr7 99702965 99702965 G A AP4M1 Nonsynonymous SNV G284D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 200573 chr19 4558047 4558047 A G rs764920560 SEMA6B Nonsynonymous SNV I79T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.1 200574 chr1 160589600 160589600 - T rs751442558 SLAMF1 Frameshift insertion S277Kfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 200575 chr19 54742861 54742861 G T rs73938610 LILRA6 Nonsynonymous SNV Q472K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.356 200576 chr7 100490349 100490349 G A ACHE Nonsynonymous SNV R387W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 200577 chr1 162740215 162740215 C T rs771675675 DDR2 Nonsynonymous SNV R473C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 200578 chr19 55543892 55543892 G A rs748269983 GP6 Nonsynonymous SNV R17C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 200579 chr1 165182908 165182908 T G rs34587265 LMX1A Synonymous SNV S213S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 200580 chr19 55543893 55543893 C G rs770869085 GP6 Synonymous SNV G16G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 200581 chr19 55687413 55687413 C T rs11542503 SYT5 Nonsynonymous SNV R108Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.2 200582 chr1 165621231 165621231 C T rs759571797 MGST3 Nonsynonymous SNV P70S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 200583 chr1 211836963 211836963 C G rs753898563 NEK2 Nonsynonymous SNV K381N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 200584 chr19 55898120 55898120 - T rs546268325 RPL28 X88delinsX 0 0.003 0.007 0 0 1 0 2 0 0 0 0 200585 chr19 55899481 55899481 C T rs10410269 RPL28 Nonsynonymous SNV T130I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 4.687 200586 chr19 55899549 55899549 T A rs10411984 RPL28 Nonsynonymous SNV W153R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.729 200587 chr1 168278071 168278071 C G rs745845963 TBX19 Nonsynonymous SNV I336M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.869 200588 chr19 55914429 55914429 G A rs74593881 RPL28 Nonsynonymous SNV R148H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.193 200589 chr1 170115396 170115396 C A rs933284254 METTL11B Nonsynonymous SNV P50T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.5 200590 chr1 170135847 170135847 C T rs890939967 METTL11B Nonsynonymous SNV P179S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.9 200591 chr13 111141854 111141854 C T rs762951574 COL4A2 Synonymous SNV F1090F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.368 200592 chr19 49439395 49439395 G A rs16982410 DHDH Synonymous SNV A103A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 200593 chr19 56487567 56487567 C T NLRP8 Nonsynonymous SNV T906I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 200594 chr19 56934522 56934522 C T rs140107379 ZNF583 Synonymous SNV F165F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.792 200595 chr1 175092719 175092719 C T rs768447678 TNN Nonsynonymous SNV P945L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 200596 chr19 57669826 57669826 C T rs146886967 DUXA Nonsynonymous SNV R103Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 200597 chr1 178435086 178435086 G A rs201632178 RASAL2 Nonsynonymous SNV R999H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 200598 chr13 24863179 24863179 G A rs145716754 SPATA13 Nonsynonymous SNV V139I 0 0 0 2 0 0 0.005 0 0 0 0 0 20.9 200599 chr7 101267280 101267280 G T MYL10 Nonsynonymous SNV L65M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 200600 chr19 58791018 58791018 T A rs545419080 ZNF8-ERVK3-1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.649 200601 chr19 58791272 58791272 G T rs879285026 ZNF8-ERVK3-1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.71 200602 chr13 25894701 25894701 T C rs149094964 NUP58 Synonymous SNV P236P 0 0 0 2 0 0 0.005 0 0 0 0 0 1.823 200603 chr19 51165521 51165521 C T rs759470326 SHANK1 Nonsynonymous SNV G2063R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 200604 chr19 603886 603886 C T rs111985192 HCN2 Synonymous SNV I325I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 200605 chr19 51359612 51359612 G A rs773127519 KLK3 Nonsynonymous SNV V55M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 200606 chr13 32912008 32912008 G A rs1799952 BRCA2 Synonymous SNV S1172S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 1.283 200607 chr7 120907271 120907271 A G CPED1 Nonsynonymous SNV E879G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 200608 chr1 228698190 228698190 G A rs547510905 BTNL10 Nonsynonymous SNV T166M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.084 200609 chr1 22927793 22927793 G A rs781609469 EPHA8 Synonymous SNV R910R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 200610 chr19 7761711 7761711 C T rs147631849 FCER2 Nonsynonymous SNV G156S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 200611 chr19 8150426 8150426 T C rs752738818 FBN3 Nonsynonymous SNV E2303G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 200612 chr19 12154684 12154684 T C rs200153961 ZNF878 Nonsynonymous SNV Q511R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 200613 chr1 1959698 1959698 C T rs139300921 GABRD Nonsynonymous SNV R220C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 34 200614 chr1 197024942 197024942 G T rs761403510 F13B Synonymous SNV S419S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.714 200615 chr7 131831450 131831452 ATC - rs764799506 PLXNA4 M1624del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 200616 chr7 138437565 138437565 C G rs767146505 ATP6V0A4 Nonsynonymous SNV E278D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 200617 chr19 15473061 15473061 T C AKAP8 Nonsynonymous SNV I388V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.31 200618 chr1 202935112 202935112 A G rs145311829 CYB5R1 Nonsynonymous SNV I83T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 200619 chr7 142612651 142612651 C T TRPV5 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 200620 chr1 204216507 204216507 T C rs550853268 PLEKHA6 Nonsynonymous SNV N636D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 200621 chr19 55785808 55785808 C T rs769861452 HSPBP1 Nonsynonymous SNV A246T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.198 200622 chr1 205131188 205131188 C T rs147801354 DSTYK Synonymous SNV E598E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 200623 chr1 100476986 100476986 G C rs151009402 SLC35A3 Nonsynonymous SNV M177I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.56 200624 chr1 101200113 101200113 A G rs774725755 VCAM1 Synonymous SNV G524G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.996 200625 chr1 248308599 248308599 C T rs759483290 OR2M5 Synonymous SNV Y50Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.652 200626 chr10 75258437 75258437 G A rs41315012 USP54 Nonsynonymous SNV P1607S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 200627 chr19 5622671 5622671 C G SAFB2 Nonsynonymous SNV G19A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.001 200628 chr14 105355914 105355914 C T rs368348265 CEP170B Nonsynonymous SNV R1198C 0 0 0 1 0 0 0.003 0 0 0 0 0 21 200629 chr7 155473551 155473551 C T rs778914658 RBM33 Synonymous SNV Y172Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.248 200630 chr14 20482656 20482656 T C rs756352509 OR4K14 Nonsynonymous SNV S233G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 200631 chr1 11254628 11254628 C T rs113054822 ANGPTL7 Synonymous SNV D261D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 200632 chr8 1626770 1626770 G A rs370355615 DLGAP2 Synonymous SNV A893A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.456 200633 chr19 57333053 57333053 T C rs144651789 PEG3, ZIM2 Nonsynonymous SNV D212G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.835 200634 chr1 27428957 27428957 A T SLC9A1 Nonsynonymous SNV M580K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 200635 chr14 20858897 20858897 T C TEP1 Synonymous SNV G651G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.112 200636 chr8 6679429 6679429 C A rs189574459 XKR5 Nonsynonymous SNV D257Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 200637 chr1 11829156 11829156 G A rs922631823 C1orf167 Nonsynonymous SNV A557T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.198 200638 chr1 31425170 31425170 G A PUM1 Nonsynonymous SNV R878C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 200639 chr1 31905860 31905860 G A rs139208281 SERINC2 Nonsynonymous SNV E358K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 200640 chr1 33059183 33059183 G A ZBTB8A Synonymous SNV Q217Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.708 200641 chr8 11162475 11162475 T C rs762285077 MTMR9 Synonymous SNV H181H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.511 200642 chr1 33245798 33245798 G A rs569727346 YARS1 Stop gain Q408X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 200643 chr14 21623484 21623484 G A rs61734144 OR5AU1 Nonsynonymous SNV P183L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 200644 chr10 98715463 98715463 G A LCOR Nonsynonymous SNV M362I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 200645 chr14 21991804 21991804 A G rs61743030 SALL2 Synonymous SNV A684A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 3.673 200646 chr19 617788 617788 C T rs752702101 POLRMT Nonsynonymous SNV V1162I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.997 200647 chr1 36031042 36031042 C T rs543753358 NCDN Synonymous SNV P639P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.05 200648 chr1 222757500 222757500 T C TAF1A Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.062 200649 chr1 149908526 149908526 - C rs587606143 MTMR11 Frameshift insertion R6Pfs*23 0 0 0.003 2 0 0 0.005 1 0 0 0 0 200650 chr8 17942276 17942276 C G rs147896487 ASAH1 Nonsynonymous SNV R12P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 200651 chr14 23396756 23396756 G A rs34122546 PRMT5 Synonymous SNV H82H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 8.01 200652 chr14 23397409 23397409 G A rs11538391 PRMT5 Synonymous SNV L64L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.71 200653 chr1 151020652 151020652 G A C1orf56 Nonsynonymous SNV G110E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 200654 chr14 23828875 23828875 G C EFS Nonsynonymous SNV A178G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.093 200655 chr1 151493071 151493071 G T rs147456904 CGN 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.2 200656 chr14 23945321 23945321 T G rs146132391 NGDN Synonymous SNV S168S 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 1.569 200657 chr14 24679926 24679926 C G rs778393755 CHMP4A Nonsynonymous SNV Q136H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 200658 chr1 228112984 228112984 C T rs760912006 WNT9A Nonsynonymous SNV R111Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 200659 chr19 815258 815258 C T rs202012376 PLPPR3 Nonsynonymous SNV G111R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 200660 chr1 42693614 42693614 G A rs751169818 FOXJ3 Synonymous SNV T156T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.94 200661 chr19 36387339 36387339 C T rs748566874 NFKBID Synonymous SNV S135S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.39 200662 chr1 228461031 228461031 G A rs769139014 OBSCN Synonymous SNV A2015A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 200663 chr1 43634619 43634619 G A rs142130646 EBNA1BP2 Synonymous SNV Y176Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.76 200664 chr1 155291263 155291263 G T rs74118444 RUSC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 200665 chr1 155292075 155292075 T G rs74118445 RUSC1 Nonsynonymous SNV S171A 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 16.02 200666 chr1 155451361 155451361 C T ASH1L Nonsynonymous SNV E434K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 200667 chr10 114169344 114169344 G A rs370048480 ACSL5 Synonymous SNV P260P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.817 200668 chr19 3736250 3736250 C T rs367626969 TJP3 Synonymous SNV F405F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.24 200669 chr1 44443015 44443015 C T rs144973199 ATP6V0B Nonsynonymous SNV P240S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.752 200670 chr1 44468313 44468313 C T rs189624767 SLC6A9 Synonymous SNV V178V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 16.59 200671 chr10 115422442 115422442 C A rs145242709 NRAP Nonsynonymous SNV S84I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 200672 chr1 45101267 45101267 C A rs377609250 RNF220 Nonsynonymous SNV P95T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 200673 chr19 872017 872017 C T MED16 Synonymous SNV K669K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 200674 chr1 22895810 22895810 C T rs367916042 EPHA8 Synonymous SNV H41H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 200675 chr1 45252341 45252341 C A BEST4 Nonsynonymous SNV R92L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 200676 chr1 156882375 156882375 G A PEAR1 Nonsynonymous SNV V724I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.448 200677 chr10 118671334 118671334 G A rs754633885 SHTN1 Synonymous SNV C382C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.029 200678 chr12 109186512 109186512 T C SSH1 Synonymous SNV P492P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.944 200679 chr14 51370887 51370887 C G ABHD12B Nonsynonymous SNV S269R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 200680 chr12 109845660 109845660 T A rs117442521 MYO1H Nonsynonymous SNV V350D 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Benign 24.9 200681 chr19 39003107 39003107 C T rs369206584 RYR1 Synonymous SNV F3152F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.95 200682 chr8 70667845 70667845 T C rs34036248 SLCO5A1 Nonsynonymous SNV M358V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 200683 chr14 55818488 55818488 G A FBXO34 Synonymous SNV V460V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.383 200684 chr1 160160571 160160571 A G rs375183213 CASQ1 Synonymous SNV R10R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.13 200685 chr1 161018824 161018824 C T rs750300952 ARHGAP30 Nonsynonymous SNV A486T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.452 200686 chr8 86121426 86121426 G A E2F5 Nonsynonymous SNV G222E 0.001 0 0 0 1 0 0 0 0 0 0 0 30 200687 chr12 117669842 117669842 C T rs77927749 NOS1 Synonymous SNV T774T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 14.64 200688 chr1 16260140 16260140 A G rs201310844 SPEN Nonsynonymous SNV I2469V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 200689 chr1 166987189 166987189 G A rs758985256 MAEL Nonsynonymous SNV R314H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 200690 chr1 62970412 62970412 A G rs150922364 DOCK7 Synonymous SNV A1511A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.549 200691 chr19 41939281 41939281 C T rs782030318 DMAC2 Stop gain W137X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 200692 chr1 63894785 63894785 T C rs146939069 ALG6 Synonymous SNV I438I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.007 200693 chr1 6556585 6556585 G A rs201669114 PLEKHG5 Nonsynonymous SNV P17S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27 200694 chr1 6635200 6635200 G A rs367637271 TAS1R1 Synonymous SNV A336A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.502 200695 chr19 4280100 4280100 C G SHD Nonsynonymous SNV R14G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 200696 chr8 124382159 124382167 TCATCATCA - rs751807156 ATAD2 D275_D277del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 200697 chr19 44008221 44008221 G A rs147649189 PHLDB3 Nonsynonymous SNV P17L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.3 200698 chr1 67895863 67895865 CTT - rs762150117 SERBP1 E40del 0.001 0 0 0 1 0 0 0 0 0 0 0 200699 chr1 248005136 248005136 A C rs374737953 OR11L1 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 200700 chr11 434095 434095 C T rs200333682 ANO9 Nonsynonymous SNV E4K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.452 200701 chr14 71199678 71199678 C T rs756820633 MAP3K9 Nonsynonymous SNV R536H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 200702 chr11 695632 695632 A G rs967944180 TMEM80 Synonymous SNV P8P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.938 200703 chr1 175086277 175086277 G A rs200995718 TNN Synonymous SNV T774T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.534 200704 chr8 132991208 132991208 G A EFR3A Nonsynonymous SNV E445K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 200705 chr1 175348815 175348815 G A rs139768853 TNR Synonymous SNV L279L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.1 200706 chr1 248366810 248366810 T C rs150518305 OR2M3 Synonymous SNV F147F 0.004 0.003 0.007 1 5 1 0.003 2 0 0 0 0 0.002 200707 chr14 74995370 74995370 G A rs140818407 LTBP2 Synonymous SNV H728H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.16 200708 chr8 134030052 134030052 G A TG Nonsynonymous SNV V2198I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.985 200709 chr1 17749268 17749268 G A rs778413915 RCC2 Synonymous SNV I196I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 200710 chr1 178062908 178062908 - GCCGCC RASAL2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 200711 chr8 140744387 140744387 G A rs374300007 TRAPPC9 Synonymous SNV G1029G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.071 200712 chr19 45016085 45016085 C G CEACAM20 Nonsynonymous SNV R429T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.203 200713 chr13 20763601 20763601 T G rs561870637 GJB2 Synonymous SNV A40A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 200714 chr1 26648542 26648542 G A rs200019228 CRYBG2 Nonsynonymous SNV R1635W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 200715 chr1 26664151 26664151 C T rs139460101 CRYBG2 Synonymous SNV E1174E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.58 200716 chr19 4512438 4512438 C A rs61730734 PLIN4 Nonsynonymous SNV V512L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 200717 chr8 144618562 144618562 G A rs200726062 ZC3H3 Nonsynonymous SNV L476F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 200718 chr8 144943196 144943196 C T rs74777588 EPPK1 Nonsynonymous SNV R1409Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.005 200719 chr1 120458007 120458007 C A rs372087953 NOTCH2 Synonymous SNV G2446G 0.004 0.008 0 3 5 3 0.008 0 0 0 0 0 12.74 200720 chr19 4817466 4817466 A T TICAM1 Synonymous SNV S308S 0.001 0.01 0 0 1 4 0 0 0 0 0 0 0.034 200721 chr1 196871607 196871607 C T rs200339924 CFHR4 Nonsynonymous SNV R40C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 200722 chr14 95562168 95562168 T C DICER1 Nonsynonymous SNV I1697V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.61 200723 chr14 95578514 95578514 T C rs749428279 DICER1 Nonsynonymous SNV K704R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.7 200724 chr1 12304424 12304424 T A VPS13D Nonsynonymous SNV D99E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 200725 chr11 1263857 1263857 C T rs772902423 MUC5B Nonsynonymous SNV T1916M 0 0.003 0 0 0 1 0 0 0 0 0 0 6.126 200726 chr11 1467054 1467054 A G rs34893167 BRSK2 Synonymous SNV K381K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.774 200727 chr1 198248163 198248163 C T rs775669415 NEK7 Synonymous SNV S187S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 200728 chr14 96937899 96937899 A G AK7 Nonsynonymous SNV D455G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 200729 chr1 36479318 36479318 G A rs767375430 AGO3 Nonsynonymous SNV V179I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 200730 chr11 2434716 2434716 T G TRPM5 Nonsynonymous SNV I665L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 200731 chr1 3745887 3745887 T C CEP104 Synonymous SNV E698E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.492 200732 chr20 17511601 17511601 C T rs561395667 BFSP1 Nonsynonymous SNV S125N 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 12.35 200733 chr1 201286743 201286743 G A rs771050304 PKP1 Nonsynonymous SNV R297H 0 0 0.007 0 0 0 0 2 0 0 0 0 34 200734 chr9 312088 312088 C A rs139391329 DOCK8 Nonsynonymous SNV D153E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.293 200735 chr1 38323130 38323130 G A rs986446777 MTF1 Synonymous SNV C67C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.254 200736 chr1 38330067 38330067 T C INPP5B Nonsynonymous SNV K684R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.514 200737 chr11 4389139 4389139 G A OR52B4 Synonymous SNV C129C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.422 200738 chr1 150620852 150620852 T C rs147746396 GOLPH3L Nonsynonymous SNV K268R 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 20.2 200739 chr19 49812607 49812607 A C rs201378910 SLC6A16 Nonsynonymous SNV L313R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 200740 chr1 202288000 202288000 G C LGR6 Nonsynonymous SNV G718R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 200741 chr1 202288001 202288001 G C LGR6 Nonsynonymous SNV G718A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 200742 chr1 40366587 40366587 T C rs748863361 MYCL Nonsynonymous SNV K204E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.338 200743 chr9 5185447 5185447 C T INSL6 Synonymous SNV Q52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.446 200744 chr13 77459828 77459828 C T rs535854374 KCTD12 Synonymous SNV L152L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 11.5 200745 chr1 40726546 40726546 G A rs370174601 ZMPSTE24 Synonymous SNV P53P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.992 200746 chr1 40726577 40726577 T - ZMPSTE24 F64Lfs*73 0.001 0 0 0 1 0 0 0 0 0 0 0 200747 chr1 203316619 203316619 G A rs140729800 FMOD Synonymous SNV P260P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.052 200748 chr1 203316700 203316700 G A rs141499373 FMOD Synonymous SNV N233N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.292 200749 chr15 33359804 33359804 A T rs758955558 FMN1 Nonsynonymous SNV D94E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.34 200750 chr19 50795540 50795540 G A rs765221367 MYH14 Nonsynonymous SNV R1676Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 200751 chr19 50885731 50885731 C A NR1H2 Nonsynonymous SNV R322S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 200752 chr1 206681054 206681054 - GT rs782399956 RASSF5 Frameshift insertion S41Cfs*126 0 0 0.003 0 0 0 0 1 0 0 0 0 200753 chr20 30521643 30521643 C T rs200788813 TTLL9 Synonymous SNV P165P 0.003 0 0 0 3 0 0 0 0 0 0 0 15.55 200754 chr9 22447551 22447551 G A DMRTA1 Nonsynonymous SNV G163R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 200755 chr1 207975968 207975968 C T rs114790693 MIR29B2CHG 0 0 0.01 0 0 0 0 3 0 0 0 0 4.272 200756 chr9 34647244 34647244 G C rs111033665 GALT Nonsynonymous SNV A81P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 200757 chr1 48771502 48771502 G C SPATA6 Nonsynonymous SNV L401V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.47 200758 chr15 43023494 43023494 C T rs143666626 CDAN1 Nonsynonymous SNV S592N 0 0 0 1 0 0 0.003 0 0 0 0 0 30 200759 chr9 35724192 35724192 C T rs753147595 TLN1 Synonymous SNV V217V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 200760 chr9 35793908 35793908 C T rs780884094 NPR2 Synonymous SNV C227C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 200761 chr1 214819277 214819277 G A rs1004159556 CENPF Nonsynonymous SNV E2122K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 200762 chr1 214820666 214820666 G A rs62636591 CENPF Nonsynonymous SNV V2585M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.849 200763 chr20 3678574 3678574 C A rs149478215 SIGLEC1 Nonsynonymous SNV V665F 0.001 0 0 0 1 0 0 0 0 0 0 0 26 200764 chr1 53746272 53746272 G C rs148468730 LRP8 Synonymous SNV A161A 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 13.61 200765 chr1 53972370 53972370 G A rs776385101 GLIS1 Synonymous SNV P595P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.59 200766 chr1 22161215 22161215 G A rs138049720 HSPG2 Synonymous SNV N3560N 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Benign/Likely benign 5.63 200767 chr20 42744463 42744463 T C rs376612687 JPH2 Nonsynonymous SNV T618A 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 200768 chr1 57341787 57341787 T C rs376825198 C8A Synonymous SNV D123D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.279 200769 chr15 52901166 52901166 T C rs200034365 FAM214A Nonsynonymous SNV K656E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.749 200770 chr19 53854824 53854824 A G rs199971327 ZNF845 Nonsynonymous SNV Y299C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 200771 chr1 22456184 22456184 A G rs201024257 WNT4 Nonsynonymous SNV Y80H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 200772 chr9 79634672 79634672 G A rs935789388 FOXB2 Synonymous SNV L34L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.349 200773 chr1 225576190 225576190 G T rs748144544 DNAH14 Nonsynonymous SNV R4396L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 200774 chr19 54627174 54627174 G A rs751651077 PRPF31 Nonsynonymous SNV D192N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 200775 chr9 94118202 94118202 T C rs146227896 AUH Nonsynonymous SNV I127M 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 200776 chr15 59911145 59911145 T G GCNT3 Nonsynonymous SNV N236K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.4 200777 chr19 55494932 55494932 G C NLRP2 Nonsynonymous SNV M600I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 200778 chr1 228475581 228475581 G A rs199724243 OBSCN Nonsynonymous SNV R3244Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 200779 chr1 6614360 6614360 T C rs760133182 NOL9 Nonsynonymous SNV Q68R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 200780 chr9 100367783 100367783 T G rs766539019 TSTD2 Synonymous SNV S365S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 200781 chr1 230468759 230468759 C T rs376986846 PGBD5 Synonymous SNV A368A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.37 200782 chr9 104309725 104309725 T C RNF20 Synonymous SNV A339A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.49 200783 chr1 231114334 231114334 C A rs766439345 TTC13 Nonsynonymous SNV W81C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 200784 chr1 232650925 232650925 G A rs368264412 SIPA1L2 Nonsynonymous SNV S54L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 200785 chr1 76397848 76397848 G A rs199681630 ASB17 Synonymous SNV Y43Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.131 200786 chr9 107457606 107457606 T C OR13D1 Nonsynonymous SNV S302P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.38 200787 chr19 56127196 56127196 G A rs900299405 ZNF865 Nonsynonymous SNV D738N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.95 200788 chr14 32619142 32619142 A C rs755864523 ARHGAP5 Synonymous SNV T1326T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.019 200789 chr1 234601430 234601430 C T rs10910439 TARBP1 Nonsynonymous SNV A425T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 200790 chr1 235955165 235955165 C T rs776296383 LYST Synonymous SNV P1459P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.74 200791 chr1 235969143 235969143 G A LYST Nonsynonymous SNV T1098I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 200792 chr1 17331197 17331197 C G rs754844359 ATP13A2 Nonsynonymous SNV S156T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 200793 chr14 45370125 45370125 C T C14orf28 Stop gain R163X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 200794 chr19 57132725 57132725 G A rs765132480 ZNF71 Nonsynonymous SNV G24R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 200795 chr1 8932030 8932030 G C ENO1 Nonsynonymous SNV A34G 0.001 0 0 0 1 0 0 0 0 0 0 0 27 200796 chr14 51190308 51190308 G A rs201013063 NIN Nonsynonymous SNV T2092I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 200797 chr19 57985223 57985223 C T rs781098749 ZNF772 Nonsynonymous SNV G185S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.026 200798 chr1 24484171 24484171 C T rs80148543 IFNLR1 Nonsynonymous SNV V338I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 200799 chr1 92568181 92568181 A G rs926590422 BTBD8 Nonsynonymous SNV I167V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.642 200800 chr1 180158694 180158694 C G QSOX1 Nonsynonymous SNV P342R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.5 200801 chr1 95363359 95363359 C A rs116004008 CNN3 Nonsynonymous SNV G264V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 200802 chr1 9791279 9791279 G A rs367682356 CLSTN1 Synonymous SNV T892T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 200803 chr20 10025188 10025188 C T rs368002362 ANKEF1 Synonymous SNV F231F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 200804 chr1 183942765 183942765 G A rs116153549 COLGALT2 Synonymous SNV C204C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.7 200805 chr20 1161965 1161965 C T rs201893497 TMEM74B Nonsynonymous SNV D76N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 200806 chr1 248112870 248112870 T C rs769045929 OR2L8 Synonymous SNV Y237Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 200807 chr1 248112871 248112871 T C rs777190064 OR2L8 Synonymous SNV L238L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 200808 chr1 248224633 248224633 A G rs140524727 OR2L3 Nonsynonymous SNV Y217C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 200809 chr1 248224639 248224639 G A rs780517525 OR2L3 Nonsynonymous SNV R219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.332 200810 chr1 248224660 248224660 A G rs138319344 OR2L3 Nonsynonymous SNV H226R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 200811 chr9 129851318 129851318 C T rs778400951 ANGPTL2 Nonsynonymous SNV R461H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 200812 chr1 19282777 19282777 G A IFFO2 Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 200813 chr1 27100341 27100341 C T rs200122106 ARID1A Synonymous SNV G1351G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.19 200814 chr21 42821090 42821090 C T rs755196469 MX1 Stop gain Q434X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.3 200815 chr9 131821484 131821484 C T rs138267417 MIGA2 Nonsynonymous SNV R243C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 200816 chr20 25187902 25187902 G A rs35296506 ENTPD6 Nonsynonymous SNV R65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.332 200817 chr9 133768869 133768869 G A rs146765370 QRFP Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 200818 chr1 20141060 20141060 G A rs36095412 RNF186 Stop gain R179X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 200819 chr1 32568247 32568247 G T rs41263987 TMEM39B Nonsynonymous SNV Q285H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 200820 chr1 33234293 33234293 G A rs201891045 KIAA1522 Nonsynonymous SNV C109Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.78 200821 chr9 133963173 133963173 C T rs200452667 LAMC3 Synonymous SNV I1482I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.96 200822 chr20 31374412 31374412 C T rs141329174 DNMT3B Synonymous SNV P137P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.63 200823 chr20 31484325 31484325 C A rs774056826 EFCAB8 Synonymous SNV R317R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 200824 chr20 31496219 31496219 G A EFCAB8 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 200825 chr20 31505125 31505125 A G rs150659516 EFCAB8 Synonymous SNV P625P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.042 200826 chr20 31505152 31505152 C G rs139897962 EFCAB8 Synonymous SNV T634T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.981 200827 chr20 31506240 31506240 A G rs116697586 EFCAB8 Nonsynonymous SNV T712A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.448 200828 chr20 31549347 31549347 C T rs373695571 EFCAB8 Nonsynonymous SNV R1267W 0.003 0 0 0 3 0 0 0 0 0 0 0 2.891 200829 chr14 88434783 88434783 C T rs754144462 GALC Synonymous SNV K245K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 15.99 200830 chr1 204966429 204966429 G A rs370913780 NFASC Nonsynonymous SNV A972T 0.003 0 0 0 3 0 0 0 0 0 0 0 20.7 200831 chr9 135931479 135931479 A G rs200715096 GTF3C5 Synonymous SNV E242E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.79 200832 chr1 38185110 38185110 T C rs370268519 EPHA10 Nonsynonymous SNV K911R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.406 200833 chr1 38463455 38463455 C T rs370858698 FHL3 Nonsynonymous SNV G89R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 200834 chr1 39788600 39788600 C T MACF1 Nonsynonymous SNV R1391C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 200835 chr21 47330887 47330887 G A rs769121677 PCBP3 Synonymous SNV S181S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 200836 chr19 9949242 9949242 G A rs147378426 PIN1 Synonymous SNV K63K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 200837 chr20 34268668 34268668 C T rs771955639 NFS1 Nonsynonymous SNV G210S 0.001 0 0 0 1 0 0 0 0 0 0 0 35 200838 chr20 34611650 34611650 G A rs140164976 CNBD2 Nonsynonymous SNV E466K 0.006 0 0.003 2 7 0 0.005 1 0 0 0 0 12.53 200839 chr1 43637358 43637358 A G rs778441909 MIR6733 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.692 200840 chr16 2024281 2024281 G T TBL3 Synonymous SNV R59R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.075 200841 chr1 45251861 45251861 A G BEST4 Nonsynonymous SNV L174P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 200842 chr1 45923364 45923364 C T rs139535559 TESK2 Nonsynonymous SNV V32M 0 0.005 0.003 5 0 2 0.013 1 0 0 0 0 0.086 200843 chr20 36954790 36954790 G A rs5743524 BPI Nonsynonymous SNV V377I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.316 200844 chr16 20999356 20999356 G A rs754938462 DNAH3 Synonymous SNV S2165S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.567 200845 chr1 109737108 109737108 C T rs151127495 KIAA1324 Synonymous SNV Y333Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.859 200846 chr16 2222307 2222307 C T rs35765267 TRAF7 Synonymous SNV S197S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.45 200847 chr1 49208438 49208438 C T BEND5 Nonsynonymous SNV A82T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 200848 chr1 219384901 219384901 T C rs570275364 LYPLAL1 Nonsynonymous SNV V131A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 200849 chr1 111968031 111968031 G A rs373255062 OVGP1 Synonymous SNV I97I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.55 200850 chr1 53980367 53980367 G A rs142735388 GLIS1 Nonsynonymous SNV P430L 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 22 200851 chr16 27709806 27709806 A G rs141145566 KIAA0556 Synonymous SNV P366P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.109 200852 chr16 2814780 2814780 A G rs573767578 SRRM2 Synonymous SNV E1417E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.97 200853 chr20 4680070 4680070 T C rs532493114 PRNP Nonsynonymous SNV S39P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.001 200854 chr16 2816042 2816042 G A rs933293650 SRRM2 Nonsynonymous SNV R1838Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 200855 chr1 114320371 114320371 G A RSBN1 Synonymous SNV L479L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 200856 chr1 59364837 59364837 G A rs115406040 LINC01135 0 0 0.017 0 0 0 0 5 0 0 0 0 9.065 200857 chr1 59364917 59364917 C T rs78658066 LINC01135 0 0 0.017 0 0 0 0 5 0 0 0 0 7.237 200858 chr16 30567290 30567290 A C rs145819551 ZNF764 Nonsynonymous SNV L150R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.03 200859 chr1 6166517 6166517 C T CHD5 Nonsynonymous SNV R1932Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 200860 chr20 52645320 52645320 C T rs201371925 BCAS1 Nonsynonymous SNV A112T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.697 200861 chr16 30750590 30750590 C A rs143133981 SRCAP Synonymous SNV R3077R 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 12.71 200862 chr16 31121739 31121739 C A rs758510551 BCKDK Synonymous SNV R187R 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 10.71 200863 chr1 226334519 226334519 T C ACBD3 Nonsynonymous SNV N460S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.555 200864 chr1 62734166 62734166 G C KANK4 Nonsynonymous SNV T47S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 200865 chr1 63064467 63064467 T C rs112068132 ANGPTL3 Nonsynonymous SNV I199T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 200866 chr22 29876373 29876373 C T NEFH Nonsynonymous SNV A41V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.29 200867 chr11 61722613 61722613 G A BEST1 Nonsynonymous SNV E3K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 200868 chr1 12023673 12023673 G C rs144439284 PLOD1 Synonymous SNV R394R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.754 200869 chr20 60504722 60504722 C T rs139822630 CDH4 Synonymous SNV D650D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.41 200870 chr20 60884473 60884473 C T rs115306720 LAMA5 Synonymous SNV A3669A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.54 200871 chr16 3613416 3613416 C T rs773631921 NLRC3 Nonsynonymous SNV G508R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 200872 chr16 3639699 3639699 G T rs142040192 SLX4 Nonsynonymous SNV Q1314K 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 10.24 200873 chr10 24886899 24886899 T C ARHGAP21 Nonsynonymous SNV I845V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 200874 chr20 61288086 61288086 C T rs34190517 SLCO4A1 Nonsynonymous SNV P94S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 200875 chr22 32914220 32914220 C T rs781309940 SYN3 Nonsynonymous SNV G473R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 200876 chr20 61512358 61512358 G A rs73304513 DIDO1 Synonymous SNV S1650S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.066 200877 chr1 7870517 7870517 A G rs147799707 PER3 Nonsynonymous SNV Y464C 0 0 0.007 0 0 0 0 2 0 0 0 0 20.5 200878 chr20 61542557 61542557 T C rs36034272 DIDO1 Synonymous SNV P136P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.112 200879 chr1 150532371 150532371 C G rs142547900 ADAMTSL4 Nonsynonymous SNV S1026R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 20.9 200880 chr1 861301 861301 G A rs773973372 SAMD11 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 200881 chr1 234536985 234536985 C T rs201389692 TARBP1 Nonsynonymous SNV R1338H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 200882 chr20 62730065 62730065 C A OPRL1 Nonsynonymous SNV D337E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 200883 chr1 15386756 15386756 C T rs149759140 KAZN Synonymous SNV S241S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.83 200884 chr22 39627798 39627798 G A rs147036196 PDGFB Synonymous SNV A95A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.3 200885 chr1 92442929 92442929 G A rs184827148 BRDT Synonymous SNV P270P 0 0 0.003 0 0 0 0 1 0 0 0 0 11 200886 chr21 30304832 30304832 C T LTN1 Nonsynonymous SNV R1663Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 200887 chr1 2435860 2435860 C A PLCH2 Nonsynonymous SNV D1153E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 200888 chr10 50340061 50340061 T - FAM170B N150Tfs*31 0.001 0.003 0 0 1 1 0 0 0 0 0 0 200889 chr16 68721415 68721415 G A rs774636297 CDH3 Nonsynonymous SNV G469E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 25.1 200890 chr21 32617927 32617927 G A rs752423075 TIAM1 Synonymous SNV H487H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.639 200891 chr16 69782964 69782964 C A NOB1 Stop gain E195X 0.002 0 0 3 2 0 0.008 0 0 0 0 0 36 200892 chr21 34923084 34923084 C T rs754561881 SON Nonsynonymous SNV P516L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 200893 chr16 70697590 70697590 C T rs367634724 MTSS2 Nonsynonymous SNV R745H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 200894 chr20 10536899 10536899 C T SLX4IP Synonymous SNV L16L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 200895 chr20 10622258 10622258 G A rs2229895 JAG1 Synonymous SNV D922D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 7.773 200896 chr16 716270 716270 C T rs201852472 WDR90 Nonsynonymous SNV P1554S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.229 200897 chr16 71884320 71884320 G A rs147505763 ATXN1L Nonsynonymous SNV R226Q 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24 200898 chr22 46761140 46761140 T C CELSR1 Nonsynonymous SNV S2848G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.62 200899 chr1 156890661 156890661 T - rs766711273 LRRC71 S23Lfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 200900 chr1 157548282 157548282 G A rs150030503 FCRL4 Synonymous SNV L471L 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 0.403 200901 chr20 16718029 16718029 A G SNRPB2 Nonsynonymous SNV N121D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 200902 chr22 50659324 50659324 C T rs762168094 TUBGCP6 Nonsynonymous SNV R1155Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.53 200903 chr21 43161078 43161078 C T RIPK4 Nonsynonymous SNV A759T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 200904 chr1 159170671 159170671 G A rs768373502 CADM3 Nonsynonymous SNV G386R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 200905 chr20 2083875 2083875 C A rs139004843 STK35 Synonymous SNV T252T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 200906 chr20 21346241 21346241 C T rs35050238 XRN2 Synonymous SNV D863D 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 14.65 200907 chr20 21494187 21494187 G A rs34329355 NKX2-2 Nonsynonymous SNV P41S 0 0 0.007 0 0 0 0 2 0 0 0 0 10.32 200908 chr20 2291722 2291722 A C rs6048066 TGM3 Nonsynonymous SNV I163L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.9 200909 chr20 30776978 30776978 T C TSPY26P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 200910 chr10 85962789 85962789 G A rs774936408 CDHR1 Synonymous SNV T231T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 200911 chr10 85982093 85982093 G A rs41291372 LRIT2 Synonymous SNV G412G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.551 200912 chr1 165218855 165218855 C T rs375082642 LMX1A Nonsynonymous SNV G96S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.8 200913 chr21 47350707 47350707 G A rs148366893 PCBP3 Synonymous SNV K242K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.86 200914 chr1 27240272 27240272 G A rs113654931 NR0B2 Nonsynonymous SNV R54C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Uncertain significance 25.9 200915 chr21 47574178 47574178 G A rs762959729 FTCD Synonymous SNV G41G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.738 200916 chr10 90530645 90530645 C T rs370163861 LIPN Nonsynonymous SNV T239M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.022 200917 chr10 90580024 90580024 G A rs370940208 LIPM Synonymous SNV T346T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 200918 chr1 168168188 168168188 C T rs752492412 TIPRL Nonsynonymous SNV T215M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 32 200919 chr20 32265071 32265071 G A rs554294623 E2F1 Synonymous SNV T302T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.056 200920 chr22 17583083 17583083 G A rs140367455 IL17RA Nonsynonymous SNV R218H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.624 200921 chr1 33149903 33149903 C G rs772980530 SYNC Nonsynonymous SNV M438I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 200922 chr20 34242574 34242582 GGCACAGGA - rs768028697 RBM12 V223_P225del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 200923 chr10 96745889 96745889 G A CYP2C9 Nonsynonymous SNV G417S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 200924 chr1 33291987 33291987 G A rs139848255 S100PBP Nonsynonymous SNV R96Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.104 200925 chr15 79748599 79748599 G A rs146939320 MINAR1 Nonsynonymous SNV R37Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 200926 chr10 98762671 98762671 C T rs762205152 SLIT1 Nonsynonymous SNV R1315Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 200927 chr2 128341886 128341886 C T rs549700121 MYO7B Synonymous SNV D511D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 200928 chr1 34677979 34677979 C - rs765937743 C1orf94 P565Rfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 200929 chr22 22277742 22277742 A G PPM1F Nonsynonymous SNV F363S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 200930 chr10 101964919 101964919 C G rs377555336 CHUK Synonymous SNV L423L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.61 200931 chr10 102249137 102249137 G A rs139252999 SEC31B Nonsynonymous SNV P1015S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 200932 chr10 102262015 102262015 A G rs145620670 SEC31B Nonsynonymous SNV L469P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 200933 chr20 43249702 43249702 G A rs773914135 ADA Nonsynonymous SNV T176I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 200934 chr10 102763554 102763554 C T rs144148031 LZTS2 Synonymous SNV T233T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 200935 chr11 114568954 114568954 C T NXPE2 Nonsynonymous SNV T107I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 200936 chr20 45874761 45874761 T C rs201727552 ZMYND8 Nonsynonymous SNV K687E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 200937 chr20 49212745 49212745 T A rs369019040 RIPOR3 Nonsynonymous SNV T616S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 200938 chr1 186092201 186092201 G A rs771234131 HMCN1 Synonymous SNV G4116G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.502 200939 chr1 45271958 45271958 T - rs545930505 TCTEX1D4 E128Gfs*125 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 200940 chr20 54972514 54972514 T C rs138767968 CSTF1 Synonymous SNV L141L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.737 200941 chr17 18025082 18025082 C T MYO15A Synonymous SNV L990L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.44 200942 chr20 56234752 56234752 C T rs781430084 PMEPA1 Synonymous SNV A9A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 200943 chr17 18138585 18138585 G A rs764017987 LLGL1 Nonsynonymous SNV A415T 0 0 0 4 0 0 0.01 0 0 0 0 0 24.3 200944 chr22 32108555 32108555 G C PRR14L Nonsynonymous SNV S1757C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 200945 chr2 164466883 164466883 C A FIGN Nonsynonymous SNV D476Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26 200946 chr20 57766591 57766591 C G ZNF831 Nonsynonymous SNV P173A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 200947 chr10 124909372 124909372 C G rs142992212 HMX2 Nonsynonymous SNV S185R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 31 200948 chr11 124135487 124135487 C T rs759885133 OR8G5 Synonymous SNV F255F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.348 200949 chr11 124135564 124135564 C T rs781035719 OR8G5 Nonsynonymous SNV S281L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 200950 chr11 124135572 124135572 T G rs779049390 OR8G5 Nonsynonymous SNV S284A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 200951 chr11 124135586 124135586 G A OR8G5 Synonymous SNV G288G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.981 200952 chr1 198671587 198671587 A G rs945167747 PTPRC Nonsynonymous SNV S171G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 200953 chr11 124135638 124135638 G A rs202195161 OR8G5 Nonsynonymous SNV G306R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.8 200954 chr11 124135649 124135649 C G rs752649651 OR8G5 Synonymous SNV S309S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.392 200955 chr11 124135666 124135666 T C rs747395567 OR8G5 Nonsynonymous SNV I315T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 200956 chr22 36962530 36962530 C T rs752545450 CACNG2 Synonymous SNV R102R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 200957 chr10 127724783 127724783 G T rs137945394 ADAM12 Synonymous SNV R821R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.136 200958 chr1 201058524 201058524 G A CACNA1S Synonymous SNV C254C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.255 200959 chr22 37769889 37769889 A G ELFN2 Synonymous SNV F562F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 200960 chr20 60908184 60908184 G T rs766464011 LAMA5 Nonsynonymous SNV P1082T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely pathogenic 24.6 200961 chr1 54678305 54678305 C G rs2275408 MRPL37 Nonsynonymous SNV L322V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 200962 chr22 38995854 38995854 C G rs780436534 FAM227A Nonsynonymous SNV V432L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 12.38 200963 chr10 133761230 133761230 C G rs201790987 PPP2R2D Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.908 200964 chr20 61870141 61870141 G A rs113297757 MIR3196 0 0 0.007 0 0 0 0 2 0 0 0 0 2.567 200965 chr20 61919054 61919054 G A rs756585181 ARFGAP1 Synonymous SNV T237T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 200966 chr16 1270742 1270742 G A rs113064034 CACNA1H Synonymous SNV P2264P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 3.404 200967 chr16 1401486 1401486 G C rs766344716 TSR3 Nonsynonymous SNV R76G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 200968 chr22 45132658 45132658 G A rs113430838 PRR5 Nonsynonymous SNV R138H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 200969 chr1 205138383 205138383 C T rs753805870 DSTYK Nonsynonymous SNV R411Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 200970 chr10 135099053 135099053 G A rs151132456 TUBGCP2 Nonsynonymous SNV A471V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.8 200971 chr10 135107220 135107220 C T rs542092054 TUBGCP2 Nonsynonymous SNV V94M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 200972 chr21 15646439 15646439 C T rs61742419 ABCC13 0 0 0.003 0 0 0 0 1 0 0 0 0 5.304 200973 chr2 179770167 179770167 C T CCDC141 Nonsynonymous SNV S385N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 200974 chr22 47097564 47097564 G A rs142523444 CERK Synonymous SNV D253D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.36 200975 chr21 22696706 22696706 C A NCAM2 Nonsynonymous SNV P66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 200976 chr11 380002 380002 C T B4GALNT4 Synonymous SNV R875R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.95 200977 chr16 2137924 2137924 - CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG rs137854222 TSC2 Frameshift insertion D1446Gfs*27 0.001 0.003 0 0 1 1 0 0 0 0 0 0 200978 chr17 33592194 33592194 C T rs117695297 SLFN5 Nonsynonymous SNV R655C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 200979 chr12 6457196 6457196 C A rs3741913 SCNN1A Nonsynonymous SNV C677F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.9 200980 chr16 3019692 3019692 - GCCGC PAQR4 Frameshift insertion L9Rfs*20 0.002 0.003 0 0 2 1 0 0 0 0 0 0 200981 chr1 74670557 74670557 A G rs909159905 FPGT Nonsynonymous SNV M289V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 200982 chr16 3432858 3432858 C T rs140391464 ZSCAN32 Synonymous SNV A407A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.65 200983 chr16 3639160 3639160 C G SLX4 Synonymous SNV S1493S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.297 200984 chr21 34635393 34635393 C T rs780171388 IFNAR2 Nonsynonymous SNV T379M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.006 200985 chr1 219347248 219347248 G T rs149478220 LYPLAL1 Nonsynonymous SNV G6W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 200986 chr2 103059776 103059776 G A IL18RAP Nonsynonymous SNV A305T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.329 200987 chr17 38187816 38187816 A G rs773397486 MED24 Synonymous SNV L335L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 200988 chr1 874665 874665 G A rs74047413 SAMD11 Synonymous SNV L177L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.034 200989 chr2 206617590 206617590 T C rs760113411 NRP2 Synonymous SNV N645N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.376 200990 chr1 907774 907774 G A rs147554483 PLEKHN1 Synonymous SNV L336L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.099 200991 chr21 43795896 43795896 C T rs56264519 TMPRSS3 Nonsynonymous SNV A299T 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 29.7 200992 chr16 20856537 20856537 C A REXO5 Nonsynonymous SNV P669T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.278 200993 chr16 23388485 23388485 G T SCNN1B 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 200994 chr2 128087979 128087979 C T MAP3K2 Nonsynonymous SNV G123R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 200995 chr2 21228263 21228263 G A rs61744153 APOB Nonsynonymous SNV T3826M 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 200996 chr16 23695214 23695214 C T PLK1 Synonymous SNV S280S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.56 200997 chr21 46355558 46355558 G A rs142974775 LINC01547 0 0 0.01 0 0 0 0 3 0 0 0 0 20.4 200998 chr1 9809670 9809670 G A rs760385634 CLSTN1 Synonymous SNV T268T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.662 200999 chr2 136622728 136622728 C A MCM6 Synonymous SNV G311G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 201000 chr2 136678063 136678063 C T DARS1 Nonsynonymous SNV A207T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 201001 chr2 138373810 138373810 G A rs202007052 THSD7B Synonymous SNV R1163R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.935 201002 chr22 18021876 18021876 C A rs200166225 CECR2 Nonsynonymous SNV P519T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.97 201003 chr22 18301190 18301190 G A rs73382765 MICAL3 Nonsynonymous SNV R1413C 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 18.48 201004 chr22 19118918 19118918 C T rs56105649 TSSK2 Synonymous SNV D2D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 201005 chr17 40489801 40489801 C A STAT3 Nonsynonymous SNV A209S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.63 201006 chr17 40764505 40764505 T C rs150641791 TUBG1 Synonymous SNV L154L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 0.031 201007 chr17 40996787 40996787 A G rs111839335 AOC2 Synonymous SNV P48P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.239 201008 chr22 20073560 20073560 G A rs201011065 DGCR8 Nonsynonymous SNV R25H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.82 201009 chr2 219029505 219029505 G A rs111741549 CXCR1 Nonsynonymous SNV R144C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.7 201010 chr17 41343545 41343545 C T rs375754624 NBR1 Synonymous SNV S319S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.77 201011 chr1 236730078 236730078 C T rs139912824 HEATR1 Synonymous SNV E1392E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.61 201012 chr22 24035979 24035979 T C RGL4 Synonymous SNV L244L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 201013 chr1 236966829 236966829 C T MTR Synonymous SNV L46L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.88 201014 chr11 5364473 5364473 G A OR51B5 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.464 201015 chr2 167330790 167330790 G A SCN7A Nonsynonymous SNV T100I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 201016 chr1 242024777 242024777 C G rs372371375 EXO1 Nonsynonymous SNV I338M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 201017 chr2 171634177 171634177 G A rs956752523 ERICH2 Nonsynonymous SNV E204K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 201018 chr2 171702067 171702067 T C GAD1 Nonsynonymous SNV F268S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 201019 chr11 5664730 5664730 G A rs767710216 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV E420K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.396 201020 chr1 247024288 247024288 T C rs41308196 AHCTF1 Nonsynonymous SNV T1349A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.001 201021 chr22 32010792 32010792 C A SFI1 Nonsynonymous SNV A950E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 201022 chr22 34022242 34022242 G A rs150283131 LARGE1 Synonymous SNV S159S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.71 201023 chr22 36055280 36055280 G A rs374093921 APOL6 Synonymous SNV A223A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.326 201024 chr2 182780817 182780817 C T rs16867510 ITPRID2 Nonsynonymous SNV A664V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 201025 chr2 239161846 239161846 C T rs200687764 PER2 Nonsynonymous SNV E940K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.29 201026 chr22 42180620 42180620 T C rs183443440 MEI1 Synonymous SNV L1060L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.257 201027 chr22 42474002 42474002 C T rs146485722 PHETA2 Synonymous SNV I235I 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.615 201028 chr2 187466869 187466869 G A ITGAV Nonsynonymous SNV D57N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 201029 chr1 249142239 249142239 G T rs201281707 ZNF672 Nonsynonymous SNV A256S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.441 201030 chr17 61559937 61559937 G A rs145172277 ACE Nonsynonymous SNV R410Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.84 201031 chr2 242154318 242154318 G A rs148954456 ANO7 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 201032 chr2 198571442 198571442 C T MARS2 Nonsynonymous SNV P438L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 201033 chr16 84203831 84203831 G A DNAAF1 Nonsynonymous SNV G230E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.6 201034 chr16 84213302 84213302 G C TAF1C Nonsynonymous SNV P287A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.601 201035 chr22 45929724 45929724 C T rs549459139 FBLN1 Nonsynonymous SNV R244W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 201036 chr22 50356553 50356553 G T rs771018838 MIR6821 0 0 0.003 0 0 0 0 1 0 0 0 0 0.345 201037 chr2 207170002 207170002 G A rs188123543 ZDBF2 Synonymous SNV S250S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.268 201038 chr17 71165538 71165538 C T rs4988465 SSTR2 Nonsynonymous SNV S27L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.823 201039 chr20 52645353 52645353 G A rs769856298 BCAS1 Nonsynonymous SNV R101W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 201040 chr16 88719726 88719726 T C rs148833471 MVD Synonymous SNV K368K 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 Benign 0.025 201041 chr1 3428152 3428152 C T rs148986195 MEGF6 Nonsynonymous SNV R359H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.635 201042 chr16 88801376 88801376 A G PIEZO1 Synonymous SNV A585A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.738 201043 chr1 35577702 35577702 G T rs148202342 ZMYM1 Nonsynonymous SNV V298L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.37 201044 chr2 21364262 21364262 C T rs769065206 TDRD15 Nonsynonymous SNV A1308V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 201045 chr16 89724217 89724217 C T rs751840485 SPATA33 Nonsynonymous SNV T3M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 201046 chr16 89804563 89804563 A T rs747571578 ZNF276 Nonsynonymous SNV K585M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.6 201047 chr2 110036009 110036009 G A rs189648861 SH3RF3 Synonymous SNV S438S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.681 201048 chr2 110922226 110922226 G A rs73954628 NPHP1 Synonymous SNV C270C 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Benign/Likely benign 2.044 201049 chr2 219679746 219679746 A G rs911127639 CYP27A1 Nonsynonymous SNV Q530R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 201050 chr1 41848242 41848242 C T rs543266432 FOXO6 Stop gain R457X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 39 201051 chr2 220135983 220135983 T C rs199671156 TUBA4B Synonymous SNV L96L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.103 201052 chr17 73754569 73754569 G A rs780321574 GALK1 Nonsynonymous SNV A302V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 201053 chr1 44606414 44606414 G T KLF18 Nonsynonymous SNV S297Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.917 201054 chr1 44606587 44606587 C T rs530619809 KLF18 Synonymous SNV T239T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.413 201055 chr12 113416543 113416543 G A rs778650316 OAS2 Nonsynonymous SNV V44I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.711 201056 chr2 220476745 220476745 A G rs369762223 STK11IP Nonsynonymous SNV S802G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.072 201057 chr17 7480000 7480000 G C rs61730297 EIF4A1 Synonymous SNV R168R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.86 201058 chr17 7483132 7483132 G A rs34474840 CD68 Synonymous SNV Q18Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 17.09 201059 chr12 113753176 113753176 G A rs763829480 SLC8B1 Nonsynonymous SNV P311S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 27.9 201060 chr12 114358449 114358449 C T rs79120696 RBM19 Synonymous SNV P784P 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 15.19 201061 chr12 114374887 114374887 T A rs2290787 RBM19 Nonsynonymous SNV T665S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 7.537 201062 chr2 226447466 226447466 T C NYAP2 Nonsynonymous SNV S445P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 201063 chr11 46404138 46404138 C T rs770464409 MDK Synonymous SNV A82A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 201064 chr1 52825393 52825393 A G rs748420329 CC2D1B Nonsynonymous SNV L309P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 201065 chr17 7630466 7630466 G A rs35406368 DNAH2 Synonymous SNV A85A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.445 201066 chr1 53553768 53553768 G A rs779757066 SLC1A7 Nonsynonymous SNV R467C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.62 201067 chr2 229890733 229890733 G A rs116780832 PID1 Nonsynonymous SNV T41M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 201068 chr12 120876317 120876317 G A COX6A1 Nonsynonymous SNV R80K 0.005 0.003 0 0 6 1 0 0 0 0 0 0 25.6 201069 chr1 55118838 55118838 C T MROH7 Nonsynonymous SNV T80I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.849 201070 chr12 121861197 121861197 C T RNF34 Nonsynonymous SNV R121W 0.004 0.003 0 0 5 1 0 0 0 0 0 0 34 201071 chr2 233659545 233659545 A C rs116074753 GIGYF2 Nonsynonymous SNV N451T 0.003 0 0 0 3 0 0 0 0 0 0 0 risk factor 0.649 201072 chr2 234591249 234591249 T A rs775314877 UGT1A7 Stop gain Y222X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 201073 chr17 7851000 7851000 C T rs149566923 CNTROB Nonsynonymous SNV P702L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 201074 chr21 35467737 35467737 C T rs373014409 SLC5A3 Synonymous SNV G80G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.66 201075 chr2 74687872 74687872 C T INO80B-WBP1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.189 201076 chr2 74867335 74867335 C G M1AP Nonsynonymous SNV R23P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 201077 chr2 8823007 8823007 A G rs367911935 ID2 Nonsynonymous SNV D128G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.9 201078 chr1 65270515 65270517 TAA - RAVER2 N432del 0 0.003 0 0 0 1 0 0 0 0 0 0 201079 chr21 38600525 38600525 G A rs762949176 VPS26C Synonymous SNV C94C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.848 201080 chr2 239155051 239155051 A G PER2 Nonsynonymous SNV S1245P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.066 201081 chr2 172644389 172644389 C T rs142912356 SLC25A12 Nonsynonymous SNV A552T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 201082 chr17 8048354 8048354 G A rs746960231 MIR6883 0 0 0 1 0 0 0.003 0 0 0 0 0 4.908 201083 chr12 132528835 132528835 G A rs139926036 EP400 Synonymous SNV T2188T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.166 201084 chr17 8138503 8138503 C T rs75790638 CTC1 Nonsynonymous SNV R436H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.78 201085 chr2 179440208 179440208 G A rs72646889 TTN Synonymous SNV L14486L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.682 201086 chr17 8701483 8701483 C T rs137880094 MFSD6L Nonsynonymous SNV R319Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.584 201087 chr17 8701486 8701486 G A rs143072622 MFSD6L Nonsynonymous SNV P318L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 201088 chr12 133357422 133357422 C T rs138371674 GOLGA3 Nonsynonymous SNV E1182K 0 0.003 0 0 0 1 0 0 0 0 0 0 24 201089 chr2 179546434 179546434 G A rs72650036 TTN Synonymous SNV V9798V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.521 201090 chr2 179575832 179575832 G A rs72648997 TTN Synonymous SNV N8133N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.313 201091 chr17 9631422 9631422 C T rs9896179 USP43 Synonymous SNV S824S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 11.27 201092 chr2 24406368 24406368 A T rs372216146 FAM228A Nonsynonymous SNV K85N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 201093 chr1 87045120 87045120 G A rs778586168 CLCA4 Nonsynonymous SNV G736R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 201094 chr17 17929644 17929644 G A rs368311501 ATPAF2 Synonymous SNV T137T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.78 201095 chr18 21494421 21494421 C T rs61751704 LAMA3 Synonymous SNV T794T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.656 201096 chr13 31309736 31309736 A G ALOX5AP Synonymous SNV E55E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.65 201097 chr17 18918483 18918483 C T rs28582882 SLC5A10 Synonymous SNV S377S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.37 201098 chr1 91816328 91816328 A G rs781235178 HFM1 Nonsynonymous SNV Y725H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 201099 chr3 113697048 113697048 G A rs145062166 CCDC191 Nonsynonymous SNV A842V 0.004 0 0 0 5 0 0 0 0 0 0 0 8.097 201100 chr13 33273973 33273973 A C rs371816913 PDS5B Synonymous SNV P569P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.769 201101 chr18 28986246 28986246 C T rs377017666 DSG4 Nonsynonymous SNV P615S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 201102 chr2 191399298 191399298 C T NEMP2 Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 201103 chr2 196682510 196682510 T C rs57935194 DNAH7 Nonsynonymous SNV D3112G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 201104 chr2 197539008 197539008 G A rs28723611 CCDC150 Nonsynonymous SNV C26Y 0.004 0 0.014 2 5 0 0.005 4 0 0 1 0 17.18 201105 chr2 197737255 197737255 T C rs142482606 PGAP1 Synonymous SNV E157E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.776 201106 chr2 202010101 202010101 C A rs13424615 CFLAR Nonsynonymous SNV L107I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 201107 chr2 202139671 202139671 T A rs35976359 CASP8 Nonsynonymous SNV S204T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.906 201108 chr13 42872883 42872883 C T rs374539712 AKAP11 Nonsynonymous SNV T189I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 201109 chr13 42875170 42875170 A G rs199696994 AKAP11 Nonsynonymous SNV E763G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 201110 chr2 20234752 20234752 G A rs756153153 LAPTM4A Synonymous SNV F168F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 201111 chr2 202357440 202357440 G T rs143243712 C2CD6 Synonymous SNV I1208I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.644 201112 chr2 203500141 203500141 - GGC rs565502997 FAM117B G84_P85insG 0 0 0.003 0 0 0 0 1 0 0 0 0 201113 chr2 203807615 203807615 A T rs76057377 CARF Nonsynonymous SNV Q65H 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 0.004 201114 chr2 203847124 203847124 G A rs77036603 CARF Synonymous SNV Q329Q 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 9.359 201115 chr2 203906549 203906549 T C rs745369837 NBEAL1 Nonsynonymous SNV L38S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 201116 chr2 203990078 203990078 A G rs9941611 NBEAL1 Nonsynonymous SNV I867V 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 0.138 201117 chr2 203990218 203990218 C A rs76097285 NBEAL1 Synonymous SNV L913L 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 9.433 201118 chr2 204304958 204304958 A G rs6756129 RAPH1 Synonymous SNV S985S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 0.107 201119 chr2 207429750 207429750 A T ADAM23 Nonsynonymous SNV D451V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 201120 chr11 62105560 62105560 C T ASRGL1 Synonymous SNV I37I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 201121 chr2 209166976 209166976 A G rs758679199 PIKFYVE Nonsynonymous SNV I310V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 201122 chr11 62294583 62294583 A G rs778731645 AHNAK Synonymous SNV L2436L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.208 201123 chr20 19998094 19998094 G A NAA20 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 201124 chr11 62394079 62394079 A T GANAB Nonsynonymous SNV D711E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.259 201125 chr11 62648774 62648774 C T rs201971445 SLC3A2 Synonymous SNV L93L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 201126 chr2 55122061 55122061 A G rs182814773 EML6 Nonsynonymous SNV T918A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.6 201127 chr2 55122122 55122122 C G rs200022878 EML6 Nonsynonymous SNV T938S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.7 201128 chr22 30057301 30057301 C T rs765223726 NF2 Synonymous SNV I178I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 14.21 201129 chr11 63953434 63953434 G A rs1042827607 STIP1 Stop gain W46X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.589 201130 chr2 61410750 61410750 C T rs1045456433 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 201131 chr11 64360961 64360961 C G SLC22A12 Synonymous SNV P197P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 201132 chr2 220362895 220362895 G A rs531351177 SPEGNB Nonsynonymous SNV R234H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 201133 chr18 7013831 7013831 C T rs199554880 LAMA1 Nonsynonymous SNV G1116R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 201134 chr2 71044212 71044212 G A rs546185298 CLEC4F Stop gain R101X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 201135 chr17 39211182 39211182 C T rs201126380 KRTAP2-2 Stop gain W94X 0.006 0.003 0.003 1 7 1 0.003 1 3 0 0 0 38 201136 chr2 223168553 223168553 T G rs936851862 CCDC140 0 0 0.003 0 0 0 0 1 0 0 0 0 7.02 201137 chr11 66366958 66366958 G T rs61731811 CCS Synonymous SNV L93L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.316 201138 chr11 66372855 66372855 G A rs367642079 CCS Nonsynonymous SNV A179T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 201139 chr3 142443450 142443450 T A rs78715340 TRPC1 Nonsynonymous SNV S17T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 201140 chr22 37964223 37964223 A G CDC42EP1 Nonsynonymous SNV D191G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 201141 chr2 74752241 74752241 C T rs370340404 DQX1 Nonsynonymous SNV R109Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 201142 chr20 36758761 36758761 C T rs148951551 TGM2 Nonsynonymous SNV V561M 0 0.003 0 0 0 1 0 0 0 0 0 0 25 201143 chr11 67377871 67377871 A G rs551603121 NDUFV1 Nonsynonymous SNV Y168C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.6 201144 chr14 20852292 20852292 G A rs371089058 TEP1 Nonsynonymous SNV R1039C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 201145 chr20 3765682 3765682 G A rs766472548 CENPB Synonymous SNV A483A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.693 201146 chr17 40695462 40695462 G A rs147293270 NAGLU Nonsynonymous SNV A480T 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.144 201147 chr17 40734706 40734706 G A rs374428488 RETREG3 Nonsynonymous SNV T310M 0 0.005 0 0 0 2 0 0 0 0 0 0 33 201148 chr22 40806121 40806139 CTGTCTTCTGTGCAGCTAG - SGSM3 L658Gfs*46 0.001 0.003 0 0 1 1 0 0 0 0 0 0 201149 chr22 42482206 42482206 T C rs141833363 NDUFA6 Nonsynonymous SNV Y123C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 201150 chr20 43739100 43739100 G A rs79417830 WFDC5 Nonsynonymous SNV S103L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.73 201151 chr2 96919729 96919729 G A rs550833832 TMEM127 Synonymous SNV Y178Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.628 201152 chr2 96952601 96952601 G A rs3214060 SNRNP200 Synonymous SNV S1218S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.229 201153 chr2 98409221 98409221 T A rs751900790 TMEM131 Nonsynonymous SNV N1258Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 201154 chr2 239140376 239140376 - CC LOC643387 0 0 0.003 0 0 0 0 1 0 0 0 0 201155 chr11 76257110 76257110 T C rs779584974 EMSY Synonymous SNV T1182T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.283 201156 chr2 98928436 98928436 G A rs768312504 VWA3B Nonsynonymous SNV G883S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.243 201157 chr19 12786446 12786446 G A WDR83 Stop gain W303X 0 0 0 2 0 0 0.005 0 0 0 0 0 39 201158 chr19 12799076 12799076 G A rs565201231 GNG14 Nonsynonymous SNV A72T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.902 201159 chr20 44533731 44533731 C T rs141035863 PLTP Synonymous SNV R149R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 13.36 201160 chr2 99998641 99998641 G A rs202124160 EIF5B Nonsynonymous SNV R694Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 201161 chr22 45595761 45595761 G A rs771691737 KIAA0930 Synonymous SNV D336D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 201162 chr19 14200646 14200646 C T SAMD1 Nonsynonymous SNV R196K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.71 201163 chr22 46709838 46709838 G T GTSE1 Nonsynonymous SNV A327S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 201164 chr22 50315342 50315342 G A rs563442675 CRELD2 Synonymous SNV P175P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.281 201165 chr20 56136474 56136474 C T rs147120329 PCK1 Nonsynonymous SNV P3S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.5 201166 chr11 92533134 92533134 A C FAT3 Nonsynonymous SNV N2319H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 201167 chr22 50659965 50659965 G A rs948609220 TUBGCP6 Synonymous SNV A941A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.06 201168 chr19 15224681 15224681 G A rs770749142 SYDE1 Synonymous SNV A638A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.982 201169 chr2 26539167 26539167 C T rs181139575 ADGRF3 Nonsynonymous SNV G149R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 201170 chr20 58646355 58646358 AAAG - rs537785235 C20orf197 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 201171 chr14 42356872 42356872 T G rs534925474 LRFN5 Synonymous SNV T348T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.078 201172 chr2 27356190 27356190 C T PREB Nonsynonymous SNV G42E 0 0 0.003 0 0 0 0 1 0 0 0 0 23 201173 chr3 120400951 120400951 T G rs200412910 HGD Nonsynonymous SNV E3A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.575 201174 chr2 31178838 31178838 C T rs145021697 GALNT14 Nonsynonymous SNV D158N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 201175 chr11 104817857 104817857 A G rs149870091 CASP4 Nonsynonymous SNV F330L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 201176 chr11 104879575 104879575 G A rs149117572 CASP5 Nonsynonymous SNV T60I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.347 201177 chr2 107446615 107446615 G T ST6GAL2 Nonsynonymous SNV L409I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 201178 chr11 107673795 107673795 C T rs777987517 SLC35F2 Nonsynonymous SNV V291I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 201179 chr20 61937355 61937355 G A COL20A1 Nonsynonymous SNV V154I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.227 201180 chr11 110030078 110030078 G A rs377608051 ZC3H12C Synonymous SNV R337R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 201181 chr2 38231307 38231307 A G rs139814009 RMDN2 Nonsynonymous SNV N231S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.105 201182 chr3 123166669 123166669 G A ADCY5 Nonsynonymous SNV L242F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 201183 chr20 62187553 62187553 G A rs147084492 FNDC11 Synonymous SNV P179P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.544 201184 chr2 43801681 43801681 T C rs757891998 THADA Nonsynonymous SNV H508R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.294 201185 chr2 47249032 47249032 T C rs767356669 TTC7A Nonsynonymous SNV V121A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 201186 chr3 19924091 19924091 C T rs79595581 EFHB Nonsynonymous SNV R760Q 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 11.5 201187 chr20 62366908 62366908 C T rs766098881 ZGPAT Synonymous SNV N463N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.846 201188 chr3 19975497 19975497 A G rs55746682 EFHB Nonsynonymous SNV I5T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 10.65 201189 chr20 62378598 62378598 G A rs370669704 ZBTB46 Synonymous SNV S485S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 201190 chr11 117779223 117779223 A T rs11827543 TMPRSS13 Synonymous SNV A462A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.391 201191 chr11 117779433 117779433 A G rs111992871 TMPRSS13 Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.798 201192 chr3 126736307 126736307 G A rs369260755 PLXNA1 Nonsynonymous SNV A1106T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 201193 chr14 73491173 73491173 C A rs76065771 ZFYVE1 Nonsynonymous SNV G15V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.94 201194 chr2 121742222 121742222 C T rs142775128 GLI2 Nonsynonymous SNV T620M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 12.14 201195 chr2 68544362 68544362 G A rs377749015 CNRIP1 Nonsynonymous SNV T86M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 201196 chr2 128029030 128029030 C G rs755760603 ERCC3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 201197 chr11 120330019 120330019 T G rs2305009 ARHGEF12 Synonymous SNV L820L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 201198 chr11 120347940 120347940 A G rs74518328 ARHGEF12 Synonymous SNV L1107L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.519 201199 chr21 31744444 31744444 A T KRTAP13-2 Nonsynonymous SNV Y30N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 201200 chr21 32595884 32595884 G A rs145360699 TIAM1 Synonymous SNV L611L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.02 201201 chr21 33785228 33785228 C A rs146014823 EVA1C Synonymous SNV R23R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.23 201202 chr2 74709242 74709242 C T rs763868372 CCDC142 Synonymous SNV G241G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 201203 chr2 75105942 75105942 G T rs28363029 HK2 Nonsynonymous SNV A387S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 201204 chr14 91755666 91755666 G A rs201474423 CCDC88C Synonymous SNV A1408A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.79 201205 chr2 84777081 84777081 C T rs116693971 DNAH6 Nonsynonymous SNV S462L 0 0 0.014 0 0 0 0 4 0 0 0 0 11.05 201206 chr2 84896441 84896441 T C DNAH6 Nonsynonymous SNV I2038T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 201207 chr3 48677452 48677452 C T rs144164666 CELSR3 Nonsynonymous SNV R3189Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.6 201208 chr19 35831915 35831915 G A rs370742313 CD22 Nonsynonymous SNV A284T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 201209 chr11 124740162 124740162 C T rs768314789 ROBO3 Nonsynonymous SNV R290C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 201210 chr3 13896294 13896294 C T rs745600145 WNT7A Nonsynonymous SNV R102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 201211 chr11 124766421 124766421 G A rs143174483 ROBO4 Synonymous SNV P37P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.927 201212 chr19 36002385 36002385 - CTGCTGCCGCCACTGCTGCTGCCACTG rs749001241 DMKN S282_G283insSGSSSGGSS 0 0 0 2 0 0 0.005 0 0 0 0 0 201213 chr19 36017912 36017912 G A rs191965342 SBSN Synonymous SNV H424H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.93 201214 chr2 88407936 88407936 C T rs145275251 SMYD1 Nonsynonymous SNV R385W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 201215 chr21 44492098 44492098 G A CBS, CBSL Nonsynonymous SNV A69V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.226 201216 chr2 97530448 97530448 G A rs768049647 SEMA4C Nonsynonymous SNV A319V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 201217 chr11 126134891 126134891 C T rs115509849 SRPRA Synonymous SNV K468K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 201218 chr2 166621483 166621483 G A rs138645426 GALNT3 Nonsynonymous SNV T200M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 201219 chr2 167266760 167266760 C T SCN7A Synonymous SNV E1227E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.31 201220 chr11 130343029 130343029 T C rs149181155 ADAMTS15 Synonymous SNV D722D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.996 201221 chr3 15478027 15478027 C T rs367835501 EAF1 Synonymous SNV A235A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.62 201222 chr19 3831864 3831864 G C rs200241803 ZFR2 Nonsynonymous SNV A131G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 201223 chr3 157823581 157823581 - CACCTCCTC rs770635670 SHOX2 G77_V78insGGG 0.008 0.003 0.01 1 9 1 0.003 3 0 0 0 0 201224 chr3 160786630 160786630 G A rs367800389 PPM1L Synonymous SNV R129R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 201225 chr3 49215087 49215087 T A rs774971125 C3orf84 Synonymous SNV A199A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 201226 chr3 165547508 165547508 T G BCHE Synonymous SNV S438S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.141 201227 chr3 49691765 49691765 T C rs755811342 BSN Synonymous SNV H1592H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 201228 chr14 104208165 104208165 G A rs371929651 PPP1R13B Nonsynonymous SNV P595L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.49 201229 chr12 3046801 3046801 C T TULP3 Nonsynonymous SNV T310I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 201230 chr2 176948370 176948370 G A rs762518774 EVX2 Synonymous SNV H45H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.364 201231 chr3 50112757 50112757 A G rs766505547 RBM6 Synonymous SNV S558S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 201232 chr2 177193087 177193087 G A rs78943740 MTX2 Nonsynonymous SNV V118I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 201233 chr19 40542374 40542374 C T rs756727716 ZNF780B Nonsynonymous SNV R131Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 201234 chr12 6635484 6635484 G A rs778834087 NCAPD2 Nonsynonymous SNV R838Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 201235 chr12 6777065 6777088 GCTGTTGCTGCTGCTGCTGCTGCT - ZNF384 Q393_Q400del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 201236 chr12 6969349 6969349 T A USP5 Nonsynonymous SNV Y389N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 201237 chr22 21150551 21150562 GATGTTGGCCGC - PI4KA A695_I698del 0 0.003 0 0 0 1 0 0 0 0 0 0 201238 chr12 9009835 9009835 T C rs202179061 A2ML1 Nonsynonymous SNV M484T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.7 201239 chr3 122287383 122287383 A G rs201843664 DTX3L Synonymous SNV K149K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.547 201240 chr19 42776869 42776869 G A CIC Nonsynonymous SNV G312S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.047 201241 chr3 188202396 188202396 C T LPP Synonymous SNV P70P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 201242 chr3 125786921 125786921 C T rs536800394 SLC41A3 Nonsynonymous SNV V48M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 201243 chr2 187351155 187351155 G A ZC3H15 Nonsynonymous SNV E16K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 201244 chr2 18736770 18736770 C T NT5C1B-RDH14, RDH14 Nonsynonymous SNV R233H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 201245 chr3 126270860 126270860 C T rs200356409 C3orf22 Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 201246 chr15 41794014 41794014 C G rs146892879 ITPKA Nonsynonymous SNV D256E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.12 201247 chr3 129195604 129195604 G A IFT122 Nonsynonymous SNV M258I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 201248 chr3 129284780 129284780 G A rs369513517 PLXND1 Synonymous SNV I1424I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 201249 chr22 29517463 29517463 G T rs61751700 KREMEN1 Nonsynonymous SNV R157S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 201250 chr12 12274318 12274318 G T rs145639537 LRP6 Synonymous SNV P1528P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.959 201251 chr12 12940315 12940315 C T rs145235534 APOLD1 Nonsynonymous SNV A190V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 201252 chr3 197518173 197518173 T C rs143455842 LRCH3 Synonymous SNV A8A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.33 201253 chr3 130947448 130947448 G T rs145914506 NEK11 Nonsynonymous SNV E351D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.8 201254 chr3 133331392 133331392 T G TOPBP1 Synonymous SNV G1287G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 201255 chr15 42820596 42820596 G A rs138357396 SNAP23 Nonsynonymous SNV A135T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 201256 chr12 18891794 18891794 T A rs746840009 CAPZA3 Nonsynonymous SNV C198S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.519 201257 chr3 27759121 27759121 C T rs746775357 EOMES Nonsynonymous SNV G520S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 201258 chr3 134078143 134078143 G A AMOTL2 Nonsynonymous SNV P754S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 201259 chr3 134086540 134086540 G A rs35161002 AMOTL2 Synonymous SNV L338L 0 0 0.007 0 0 0 0 2 0 0 0 0 4.756 201260 chr3 32031724 32031724 C G ZNF860 Nonsynonymous SNV L385V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 201261 chr3 32932841 32932841 G A rs200564131 TRIM71 Synonymous SNV L715L 0.004 0.008 0.003 2 5 3 0.005 1 0 0 0 0 4.63 201262 chr22 32813090 32813090 C T BPIFC Nonsynonymous SNV V436I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 201263 chr3 148759369 148759369 T C rs34622270 HLTF Nonsynonymous SNV I761V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.27 201264 chr12 30837303 30837303 G A rs765617513 IPO8 Synonymous SNV H85H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 201265 chr3 151055645 151055645 T C rs16846673 P2RY12 Nonsynonymous SNV E330G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.047 201266 chr3 151056088 151056088 G A rs16863320 P2RY12 Synonymous SNV F182F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.122 201267 chr3 151107850 151107850 C G rs35949713 MED12L Synonymous SNV T1810T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.562 201268 chr3 151155001 151155001 G A rs111468413 IGSF10 Synonymous SNV L477L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.232 201269 chr3 151155866 151155866 A G rs79460060 IGSF10 Synonymous SNV L188L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 201270 chr19 48048916 48048916 A C rs867874709 ZNF541 Synonymous SNV P290P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 201271 chr22 38482290 38482290 G A rs994323717 BAIAP2L2 Nonsynonymous SNV R476C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 201272 chr3 42700501 42700501 A G rs762806053 ZBTB47 Synonymous SNV E218E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.58 201273 chr22 40756473 40756491 AGCTTGGGGGCATCAGTGC - ADSL S257Tfs*49 0 0.003 0 0 0 1 0 0 0 0 0 0 201274 chr3 158963694 158963694 A G rs73031431 IQCJ, IQCJ-SCHIP1 Synonymous SNV E24E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 201275 chr3 158983034 158983034 C T rs200110938 IQCJ Nonsynonymous SNV P81S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 201276 chr3 160167584 160167584 C A rs563291518 TRIM59-IFT80 0 0 0.003 0 0 0 0 1 0 0 0 0 8.826 201277 chr4 128851905 128851905 T C rs753930474 MFSD8 Nonsynonymous SNV I206V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.448 201278 chr3 167189605 167189605 C T rs746935297 SERPINI2 Synonymous SNV L6L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 201279 chr19 49416392 49416392 C T rs757848142 NUCB1 Nonsynonymous SNV A202V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.3 201280 chr22 45938141 45938141 C T rs139236558 FBLN1 Synonymous SNV D391D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.85 201281 chr12 51072605 51072605 T C rs117722674 DIP2B Nonsynonymous SNV S354P 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 9.352 201282 chr3 183524914 183524914 G C rs75830816 YEATS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.556 201283 chr3 183528188 183528188 A G rs145695473 YEATS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.543 201284 chr3 183602569 183602569 G A rs112091394 PARL Synonymous SNV G22G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 201285 chr3 46586716 46586716 G A rs755648890 LRRC2 Synonymous SNV A51A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.13 201286 chr2 220504246 220504246 C T rs376572581 SLC4A3 Synonymous SNV S1049S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.82 201287 chr3 183888220 183888220 C T DVL3 Nonsynonymous SNV R610C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 201288 chr19 50412774 50412774 G C NUP62 Synonymous SNV L97L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.097 201289 chr3 47125441 47125441 G C rs369421455 SETD2 Nonsynonymous SNV N1899K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.002 201290 chr19 50905373 50905373 C G rs144656348 POLD1 Nonsynonymous SNV S194C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 201291 chr3 185226597 185226597 C G rs779862632 LIPH Nonsynonymous SNV C446S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 201292 chr22 50861913 50861913 T C rs148271691 PPP6R2 Nonsynonymous SNV I332T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 201293 chr22 50942852 50942852 G A LMF2 Synonymous SNV A520A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.504 201294 chr4 159528224 159528224 C A rs746435796 RXFP1 Synonymous SNV T3T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.245 201295 chr12 52910988 52910988 C T rs200072843 KRT5 Nonsynonymous SNV R374Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 201296 chr22 51064469 51064469 G A rs147027229 ARSA Synonymous SNV S334S 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.807 201297 chr3 51737862 51737862 C T rs756522578 TEX264 Nonsynonymous SNV R184C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 201298 chr2 232325436 232325438 TCT - rs756140546 NCL E251del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 201299 chr2 232995468 232995468 T G rs75968600 DIS3L2 Synonymous SNV A247A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.469 201300 chr19 51857704 51857704 C T rs1862495 ETFB Synonymous SNV L63L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 8.849 201301 chr3 52398697 52398697 C T rs61739896 DNAH1 Nonsynonymous SNV S1763L 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 27.8 201302 chr3 52416378 52416378 C T rs113529103 DNAH1 Synonymous SNV Y2616Y 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 7.716 201303 chr3 52422300 52422300 C T rs61731638 DNAH1 Nonsynonymous SNV R3041C 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 35 201304 chr3 52425236 52425236 C T rs61733865 DNAH1 Synonymous SNV R3261R 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 17.36 201305 chr3 52437748 52437748 A C rs34736117 BAP1 Synonymous SNV A471A 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 0.175 201306 chr3 52455721 52455721 A G rs35944133 PHF7 Nonsynonymous SNV K211E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.923 201307 chr3 52553540 52553540 C G rs79269239 STAB1 Nonsynonymous SNV A1732G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 201308 chr2 109067514 109067514 A C rs779609657 GCC2 Nonsynonymous SNV K32Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 201309 chr3 52812415 52812415 C T rs34925267 ITIH1 Synonymous SNV F66F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.3 201310 chr3 52824924 52824924 G A rs9817404 ITIH1 Synonymous SNV T539T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 201311 chr12 54339005 54339005 A C rs772861083 HOXC13 Nonsynonymous SNV S320R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 201312 chr19 52568974 52568974 T C rs746140267 ZNF841 Nonsynonymous SNV K605E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.962 201313 chr4 1836595 1836595 C G LETM1 Nonsynonymous SNV D285H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 201314 chr3 53346382 53346382 G A rs7631896 DCP1A Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 201315 chr4 184622872 184622872 T C rs748050714 TRAPPC11 Synonymous SNV S958S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.436 201316 chr4 186350573 186350573 C T rs752707291 C4orf47 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.442 201317 chr3 25706415 25706415 G C rs6784191 MIR4442 0 0 0.01 0 0 0 0 3 0 0 0 0 2.976 201318 chr3 27157475 27157475 T C NEK10 Synonymous SNV E444E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.69 201319 chr3 27439279 27439279 T C SLC4A7 Nonsynonymous SNV T739A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 201320 chr12 56092588 56092588 C T rs750041574 ITGA7 Nonsynonymous SNV A306T 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 201321 chr12 56321521 56321521 C T PYM1 Nonsynonymous SNV A9T 0.003 0 0 0 3 0 0 0 0 0 0 0 15.05 201322 chr3 32030994 32030994 T C rs187640039 ZNF860 Synonymous SNV Y141Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 201323 chr12 56824705 56824705 A G rs143438683 TIMELESS Nonsynonymous SNV I289T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 201324 chr3 69245412 69245412 A G rs770325581 FRMD4B Nonsynonymous SNV S410P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 201325 chr2 128017009 128017009 C T rs151216904 ERCC3 Nonsynonymous SNV A694T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Uncertain significance 22.2 201326 chr2 242430551 242430551 G A rs371043521 FARP2 Synonymous SNV T860T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.315 201327 chr3 97595362 97595362 G C CRYBG3 Nonsynonymous SNV G1775A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.629 201328 chr19 54684764 54684764 G A MBOAT7 Nonsynonymous SNV R121C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 201329 chr12 66597644 66597644 G A rs145220063 IRAK3 Nonsynonymous SNV R96H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 201330 chr3 9793464 9793464 G C OGG1 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.059 201331 chr12 66731870 66731870 T C HELB Synonymous SNV N1084N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.325 201332 chr2 25991716 25991716 T G rs376428946 ASXL2 Nonsynonymous SNV K118Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 201333 chr3 44286631 44286631 A G rs192078606 TOPAZ1 Nonsynonymous SNV N878S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 201334 chr2 149226894 149226894 G A rs139964770 MBD5 Nonsynonymous SNV R461H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28 201335 chr4 56290723 56290723 G A rs764212150 TMEM165 Nonsynonymous SNV V271M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 31 201336 chr12 80726843 80726843 A T rs745923026 OTOGL Synonymous SNV T1460T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.062 201337 chr4 1018208 1018208 G A rs58679007 FGFRL1 Synonymous SNV P276P 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 7.849 201338 chr12 95922778 95922778 C T rs761587997 USP44 Nonsynonymous SNV V477I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 201339 chr2 3392060 3392062 CTT - TRAPPC12 F224del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 201340 chr16 597453 597453 C T rs141612773 CAPN15 Synonymous SNV P205P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.97 201341 chr2 3750141 3750141 A T rs774518291 ALLC Nonsynonymous SNV K388N 0.003 0 0 4 3 0 0.01 0 0 0 0 0 13.25 201342 chr12 101715292 101715292 C G rs749180327 UTP20 Nonsynonymous SNV Q976E 0.002 0 0 0 2 0 0 0 0 0 0 0 1.005 201343 chr19 5745992 5745992 T G CATSPERD Synonymous SNV T242T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.076 201344 chr19 57765809 57765809 G A rs750510541 ZNF805 Nonsynonymous SNV C408Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 201345 chr4 1205975 1205975 G A rs115317882 CTBP1-AS 0.002 0 0 0 2 0 0 0 0 0 0 0 3.39 201346 chr3 53857567 53857567 C T rs1038821268 CHDH Nonsynonymous SNV G157S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 201347 chr12 110341830 110341830 G A rs200027650 TCHP Nonsynonymous SNV E93K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 201348 chr19 5867383 5867383 C T rs149784295 FUT5 Synonymous SNV A118A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 201349 chr2 179597232 179597232 G A rs1048810880 TTN Nonsynonymous SNV T4275M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 201350 chr2 179614603 179614603 G T rs72647899 TTN Nonsynonymous SNV S4175Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.32 201351 chr2 61145666 61145666 A G REL Nonsynonymous SNV K260E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 201352 chr3 85932473 85932473 G A CADM2 Nonsynonymous SNV A82T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 201353 chr4 148546142 148546142 C T rs143222398 TMEM184C Nonsynonymous SNV P160L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 201354 chr4 85569748 85569748 T C CDS1 Nonsynonymous SNV V432A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 201355 chr4 85648017 85648017 T C rs777253681 WDFY3 Synonymous SNV Q2423Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.066 201356 chr12 122255537 122255537 - GGA rs71079098 SETD1B E1087_V1088insE 0.001 0 0 0 1 0 0 0 0 0 0 0 201357 chr2 187511419 187511419 C T rs145167954 ITGAV Nonsynonymous SNV A353V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 201358 chr2 196664068 196664068 A G rs769667039 DNAH7 Synonymous SNV S3435S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 201359 chr19 8555602 8555602 G A rs368770324 PRAM1 Synonymous SNV I594I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.458 201360 chr12 125271046 125271046 C A rs147047696 SCARB1 Nonsynonymous SNV G286W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 201361 chr19 12760231 12760231 C T rs771163474 MAN2B1 Nonsynonymous SNV R760Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 201362 chr19 12876538 12876538 A T rs760812924 HOOK2 Nonsynonymous SNV S534T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 201363 chr12 129558978 129558978 G A rs745894276 TMEM132D Synonymous SNV S914S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.071 201364 chr2 79312390 79312390 A G REG1B Synonymous SNV D151D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 201365 chr4 170038809 170038809 C T rs374119558 SH3RF1 Nonsynonymous SNV V548M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 201366 chr12 132403794 132403794 C T rs147409347 ULK1 Nonsynonymous SNV T850M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 201367 chr4 170641111 170641111 C T rs372151295 CLCN3 Nonsynonymous SNV T780M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 201368 chr4 122068291 122068291 C A rs35546916 TNIP3 Synonymous SNV S216S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 201369 chr19 9069823 9069823 T C rs1862459 MUC16 Nonsynonymous SNV T5875A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.004 201370 chr16 20809400 20809400 T G rs951169710 ERI2 Synonymous SNV P574P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 201371 chr4 144621455 144621455 T C FREM3 Nonsynonymous SNV Q125R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.39 201372 chr3 100365533 100365533 C T rs115472303 ADGRG7 Nonsynonymous SNV R116C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 201373 chr2 21231321 21231321 C A APOB Nonsynonymous SNV D2807Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 201374 chr1 100133249 100133249 G C rs143990967 PALMD Nonsynonymous SNV E60Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 26.9 201375 chr13 29002035 29002035 G A rs758922569 FLT1 Nonsynonymous SNV T377I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.117 201376 chr1 10699619 10699619 T C rs995318030 CASZ1 Nonsynonymous SNV S1554G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 201377 chr4 15575774 15575774 T C rs760918829 CC2D2A Nonsynonymous SNV I1199T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 201378 chr4 2233755 2233755 C A rs200438056 HAUS3 Stop gain E571X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 201379 chr4 2252331 2252331 G A rs776934019 MXD4 Synonymous SNV T190T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.276 201380 chr13 39546696 39546696 C T rs747673142 STOML3 Nonsynonymous SNV V89I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 201381 chr3 113517175 113517175 G A rs774063945 ATP6V1A Nonsynonymous SNV R459H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 201382 chr2 220161191 220161191 C T rs749188666 PTPRN Synonymous SNV P757P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.524 201383 chr13 40233521 40233521 G A rs61754106 COG6 Synonymous SNV K58K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 201384 chr4 169928890 169928890 T A rs138581722 CBR4 Nonsynonymous SNV S54C 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 23.3 201385 chr2 220329269 220329269 C T rs753331207 SPEG Synonymous SNV Y91Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.131 201386 chr4 2835448 2835448 G A rs142735744 SH3BP2 Nonsynonymous SNV E525K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 201387 chr16 53639483 53639483 C A rs148773489 RPGRIP1L Nonsynonymous SNV D1169Y 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 33 201388 chr16 53698860 53698860 T C rs79708859 RPGRIP1L Nonsynonymous SNV I389V 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.98 201389 chr5 1221323 1221323 C T rs748088574 SLC6A19 Synonymous SNV V532V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 201390 chr1 111996919 111996919 G A rs757360032 ATP5PB Nonsynonymous SNV R55H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 201391 chr5 1295083 1295083 G A TERT Stop gain R8X 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 201392 chr16 57559866 57559866 G A rs753522768 CCDC102A Synonymous SNV T253T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 201393 chr19 23545279 23545279 T A rs751814600 ZNF91 Nonsynonymous SNV N136Y 0 0.005 0 0 0 2 0 0 0 0 0 0 13.9 201394 chr13 73355883 73355883 C A DIS3 Nonsynonymous SNV G30C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 201395 chr16 66997264 66997264 G C rs759064448 CES3 Nonsynonymous SNV D89H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 201396 chr16 67778237 67778237 G A rs150902552 RANBP10 Synonymous SNV N57N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.44 201397 chr19 33351524 33351524 C A rs755331994 SLC7A9 Nonsynonymous SNV R246I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.21 201398 chr4 435924 435924 T C ZNF721 Nonsynonymous SNV K778E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 201399 chr13 98637809 98637809 A G rs184286955 IPO5 Synonymous SNV Q102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.184 201400 chr5 13841061 13841061 G A rs777579934 DNAH5 Nonsynonymous SNV T1888I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.4 201401 chr3 126071579 126071579 A T KLF15 Nonsynonymous SNV C63S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 201402 chr4 22390719 22390719 G A rs143611399 ADGRA3 Synonymous SNV N905N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.3 201403 chr19 35512638 35512638 C G rs767135726 GRAMD1A Synonymous SNV G534G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.42 201404 chr1 1247673 1247673 G A rs759883842 INTS11 Nonsynonymous SNV R416C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 201405 chr19 35613760 35613760 G C rs150332087 FXYD3 Synonymous SNV S63S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.102 201406 chr3 12859090 12859090 C T rs145585114 CAND2 Nonsynonymous SNV R794C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 201407 chr16 72821621 72821638 GCCGCCGCCGCCGCCACT - rs775843921 ZFHX3 S2599_G2604del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 201408 chr1 145522529 145522529 C T PEX11B Synonymous SNV S116S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.74 201409 chr5 140783555 140783555 G C PCDHGA9 Nonsynonymous SNV E346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 201410 chr2 23865670 23865670 G A rs1045838724 KLHL29 Nonsynonymous SNV R297Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 201411 chr5 1443244 1443244 G A rs145257591 SLC6A3 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 201412 chr2 241679755 241679755 C T rs761077237 KIF1A Nonsynonymous SNV R1158H 0 0.005 0 0 0 2 0 0 0 0 0 0 32 201413 chr19 38861338 38861338 T A rs776275957 CATSPERG Nonsynonymous SNV L1089Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 201414 chr2 241929097 241929097 C G CROCC2 Synonymous SNV A1570A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 201415 chr5 148712325 148712325 G T rs905016709 AFAP1L1 Nonsynonymous SNV E648D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 201416 chr16 84224954 84224954 C T ADAD2 Stop gain Q40X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 201417 chr4 70823058 70823058 T C rs372638244 CSN2 Synonymous SNV L202L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 201418 chr1 152328291 152328291 T C rs149736928 FLG2 Synonymous SNV Q657Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 201419 chr3 138191501 138191501 C T rs368985977 ESYT3 Synonymous SNV I679I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 201420 chr16 84529510 84529510 C T rs181423987 MEAK7 Nonsynonymous SNV G55R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 201421 chr1 154180051 154180051 C A rs551487853 C1orf43 Nonsynonymous SNV V162F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.02 201422 chr1 15438830 15438831 TG - TMEM51-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 201423 chr4 79308831 79308831 G A rs76107832 FRAS1 Synonymous SNV L1317L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.217 201424 chr3 149613301 149613301 T A rs138875909 RNF13 Synonymous SNV V121V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 201425 chr16 88722675 88722675 G A rs748632678 MVD Synonymous SNV D147D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.115 201426 chr3 151093992 151093992 G A rs188528346 MED12L Nonsynonymous SNV R1313H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 201427 chr2 29287854 29287854 G A rs727503829 PCARE Nonsynonymous SNV R1250C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.9 201428 chr14 23944796 23944796 A G rs756433724 NGDN Synonymous SNV Q104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.279 201429 chr4 680086 680086 G A SLC49A3 Synonymous SNV I100I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.564 201430 chr16 89167090 89167090 A G rs370382601 ACSF3 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 8.439 201431 chr2 31600072 31600072 G C rs138649664 XDH Nonsynonymous SNV S425C 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 201432 chr2 32400426 32400426 T C rs201730025 SLC30A6 Nonsynonymous SNV F43L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.66 201433 chr2 32639913 32639913 A G rs144006143 BIRC6 Synonymous SNV K518K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.103 201434 chr2 32819085 32819085 A G rs760205730 BIRC6 Nonsynonymous SNV I4487V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 201435 chr19 44470097 44470097 A G rs770290812 ZNF221 Nonsynonymous SNV K148R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 201436 chr16 89347734 89347734 C T rs757264535 ANKRD11 Nonsynonymous SNV C1739Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 201437 chr1 156737605 156737605 G A rs143726219 PRCC Synonymous SNV P14P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.21 201438 chr16 89655171 89655171 T A rs148999662 CPNE7 Nonsynonymous SNV L339Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 201439 chr16 89656320 89656320 C T rs142982895 CPNE7 Synonymous SNV S359S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.04 201440 chr1 156897591 156897591 G T rs77078877 LRRC71 Nonsynonymous SNV A297S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 201441 chr16 90106877 90106877 T A rs142379631 GAS8 Nonsynonymous SNV L202Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 26.6 201442 chr4 89338691 89338691 A G rs190243300 HERC6 Nonsynonymous SNV N558S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.02 201443 chr1 158637704 158637704 C T rs201845149 SPTA1 Nonsynonymous SNV R661H 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 201444 chr2 39995605 39995605 G A THUMPD2 Nonsynonymous SNV H3Y 0 0.003 0 0 0 1 0 0 0 0 0 0 18.53 201445 chr14 38061911 38061911 G A FOXA1 Synonymous SNV Y26Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.242 201446 chr4 81124355 81124355 C T PRDM8 Nonsynonymous SNV A580V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 201447 chr19 45656600 45656600 G A rs752372185 NKPD1 Synonymous SNV H365H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.067 201448 chr17 2235470 2235470 G A TSR1 Stop gain R497X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 201449 chr1 160650966 160650966 C T rs187213919 CD48 Synonymous SNV R226R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.61 201450 chr1 160654792 160654792 C T rs35979150 CD48 Synonymous SNV Q90Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.264 201451 chr4 843548 843548 C T rs200047571 GAK Synonymous SNV P1204P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 201452 chr3 184079230 184079230 C G CLCN2 Nonsynonymous SNV R13P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.49 201453 chr2 51254914 51254914 C T rs201212909 NRXN1 Synonymous SNV A166A 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.07 201454 chr2 54087028 54087028 C T rs527458991 GPR75-ASB3 Nonsynonymous SNV R13Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24 201455 chr14 52493940 52493940 C T rs145035848 NID2 Nonsynonymous SNV G885S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 201456 chr5 179036470 179036470 G A rs771669553 RUFY1 Nonsynonymous SNV D585N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 201457 chr2 55074725 55074725 - AT EML6 Frameshift insertion M385Ifs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 201458 chr1 161968084 161968084 G A rs144399009 OLFML2B Synonymous SNV L336L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.216 201459 chr5 180030326 180030326 G A rs150279372 FLT4 Nonsynonymous SNV R1320W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 201460 chr5 121488636 121488636 T G rs75331699 ZNF474 Nonsynonymous SNV N317K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.554 201461 chr4 983432 983432 G A rs1044204124 SLC26A1 Nonsynonymous SNV P432L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 201462 chr5 122685717 122685717 G C CEP120 Nonsynonymous SNV R857G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 201463 chr17 4637927 4637927 G A rs779326893 CXCL16 Nonsynonymous SNV P266S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.5 201464 chr3 193207600 193207600 A G rs751485776 ATP13A4 Synonymous SNV S219S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.533 201465 chr19 49106814 49106814 G T FAM83E Nonsynonymous SNV S371R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 201466 chr5 10239184 10239184 G A rs764422059 ATPSCKMT Nonsynonymous SNV R101C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 201467 chr1 169519163 169519163 T C rs756863805 F5 Nonsynonymous SNV N496S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.244 201468 chr5 108714824 108714824 C T rs369335993 PJA2 Nonsynonymous SNV V122I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.217 201469 chr5 110096931 110096931 - T SLC25A46 Frameshift insertion L146Ffs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 201470 chr5 133459440 133459440 G A TCF7 Nonsynonymous SNV G5D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 201471 chr5 133657586 133657586 T C CDKL3 Nonsynonymous SNV D183G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 201472 chr5 113698793 113698793 C G rs376378385 KCNN2 Synonymous SNV T319T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.758 201473 chr17 7123352 7123352 C T rs2230179 ACADVL Nonsynonymous SNV L17F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.98 201474 chr5 13871739 13871744 TTTGGA - DNAH5 F1176_N1178delinsY 0.001 0 0 0 1 0 0 0 0 0 0 0 201475 chr5 13916562 13916562 T C rs759149687 DNAH5 Synonymous SNV L364L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.422 201476 chr5 139216754 139216754 G A rs779877878 PSD2 Synonymous SNV T532T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.943 201477 chr5 129243885 129243885 A G CHSY3 Synonymous SNV E306E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.979 201478 chr14 74876300 74876300 C T rs61738680 SYNDIG1L Nonsynonymous SNV G50R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 201479 chr14 74971792 74971792 C T rs61738017 LTBP2 Synonymous SNV A1421A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.56 201480 chr5 131811435 131811435 C T rs11547300 C5orf56 0 0 0.007 0 0 0 0 2 0 0 0 0 12.27 201481 chr14 75516351 75516351 T C rs114829239 MLH3 Nonsynonymous SNV K3R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.939 201482 chr5 140182967 140182967 G A rs547051375 PCDHA3 Nonsynonymous SNV E729K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 201483 chr17 7727273 7727273 C T rs369435627 DNAH2 Synonymous SNV I3817I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 201484 chr5 132150212 132150212 C T SOWAHA Nonsynonymous SNV P300L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 201485 chr5 137500616 137500616 T C rs746337431 BRD8 Synonymous SNV A465A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 201486 chr14 86088581 86088581 G A rs145351543 FLRT2 Synonymous SNV S241S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.612 201487 chr5 140180995 140180995 C T rs138112183 PCDHA3 Synonymous SNV H71H 0 0 0.007 0 0 0 0 2 0 0 0 0 7.993 201488 chr1 186008032 186008032 A G rs145889775 HMCN1 Nonsynonymous SNV I1975V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 0.391 201489 chr3 4354894 4354894 G C SETMAR Nonsynonymous SNV E157Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 201490 chr3 4355265 4355265 T C rs142449470 SETMAR Synonymous SNV H280H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 201491 chr1 186082008 186082008 G C rs145492995 HMCN1 Nonsynonymous SNV G3685A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 0.003 201492 chr3 4358102 4358102 A G rs147184330 SETMAR Synonymous SNV P121P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.379 201493 chr17 10541555 10541555 G A MYH3 Synonymous SNV D1178D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.844 201494 chr3 4358138 4358138 C T rs149611890 SETMAR Synonymous SNV I133I 0.001 0 0 0 1 0 0 0 0 0 0 0 16 201495 chr14 94526812 94526812 C T rs11845400 DDX24 Synonymous SNV Q515Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.19 201496 chr3 111760862 111760862 G A rs369569496 TMPRSS7 Nonsynonymous SNV E20K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 201497 chr5 140869287 140869287 G A rs560729125 PCDHGC5 Synonymous SNV P160P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.524 201498 chr5 140953310 140953310 G C rs201433617 DIAPH1 Nonsynonymous SNV P694A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.18 201499 chr5 1483559 1483559 C T rs200841903 LPCAT1 Nonsynonymous SNV R237Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 201500 chr5 149589100 149589100 C T rs145244839 SLC6A7 Synonymous SNV Y611Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 201501 chr5 150646862 150646862 C T rs980173287 GM2A Synonymous SNV T144T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 201502 chr5 156890324 156890324 C T rs188020393 NIPAL4 Nonsynonymous SNV T149M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 201503 chr17 21319062 21319062 C G rs781875412 KCNJ12, KCNJ18 Nonsynonymous SNV F136L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 201504 chr17 21319091 21319091 A G rs782138834 KCNJ12, KCNJ18 Nonsynonymous SNV Y146C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 201505 chr15 24921512 24921512 G A rs35737140 NPAP1 Synonymous SNV P166P 0.003 0.003 0.014 2 3 1 0.005 4 0 0 0 0 Benign 8.021 201506 chr5 176318038 176318038 C T rs148717336 HK3 Synonymous SNV Q138Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.56 201507 chr17 33747337 33747337 C - SLFN12 S368Ifs*21 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 201508 chr6 110757114 110757114 G T rs146340306 SLC22A16 Synonymous SNV I454I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.953 201509 chr3 134327427 134327427 C T KY Nonsynonymous SNV R343K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.605 201510 chr5 177574566 177574568 TGA - RMND5B M286del 0 0 0.003 0 0 0 0 1 0 0 0 0 201511 chr5 179267911 179267923 CTGCACGCCACGG - rs757387484 MRNIP S107Rfs*19 0.001 0 0.003 0 1 0 0 1 0 0 0 0 201512 chr15 40866338 40866338 C T rs759726644 RPUSD2 Stop gain R445X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 39 201513 chr15 41037304 41037304 G A rs751047815 RMDN3 Synonymous SNV A226A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.146 201514 chr3 97593040 97593040 G A rs751843988 CRYBG3 Nonsynonymous SNV G1001D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.003 201515 chr1 216850659 216850659 G T ESRRG Nonsynonymous SNV N54K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 201516 chr5 19747183 19747183 T C rs375736859 CDH18 Nonsynonymous SNV I131V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.312 201517 chr5 31302333 31302333 C T rs149429954 CDH6 Synonymous SNV D309D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 201518 chr5 32088003 32088003 G A rs756798397 PDZD2 Synonymous SNV P1483P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.104 201519 chr1 22149967 22149967 C T rs145687082 HSPG2 Nonsynonymous SNV V4341M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 201520 chr6 13295087 13295087 G A LOC100130357 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.042 201521 chr15 42983455 42983455 G A rs559711083 STARD9 Nonsynonymous SNV A3227T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.531 201522 chr6 143818570 143818570 G A FUCA2 Stop gain Q407X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 201523 chr1 223990506 223990506 T C TP53BP2 Nonsynonymous SNV D308G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 201524 chr15 45394022 45394022 G C DUOX2 Synonymous SNV L940L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.25 201525 chr17 39680218 39680218 G A rs149987744 KRT19 Nonsynonymous SNV T327M 0 0.003 0 0 0 1 0 0 0 0 0 0 25 201526 chr5 41052669 41052669 G T MROH2B Synonymous SNV L376L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.921 201527 chr5 476647 476647 G C SLC9A3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.061 201528 chr5 55265406 55265406 A G IL6ST Synonymous SNV N114N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.866 201529 chr15 51791499 51791499 T C rs779889954 DMXL2 Nonsynonymous SNV R1308G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 201530 chr1 22834628 22834628 - AGGT rs773855785 ZBTB40 Frameshift insertion M389Gfs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 201531 chr15 52258697 52258697 A G rs78529090 LEO1 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.126 201532 chr15 52416738 52416738 C T rs763538889 GNB5 Nonsynonymous SNV V328I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 201533 chr6 152605206 152605206 C T rs149923357 SYNE1 Synonymous SNV A5967A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.4 201534 chr5 6600084 6600084 G A rs372574598 NSUN2 Synonymous SNV D718D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.986 201535 chr17 42635605 42635605 - GGC FZD2 G187_A188insG 0 0.003 0 0 0 1 0 0 0 0 0 0 201536 chr5 56152541 56152541 C T rs781610164 MAP3K1 Synonymous SNV H199H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.61 201537 chr17 45012609 45012609 A T rs764579366 GOSR2 Nonsynonymous SNV Y184F 0 0.005 0 0 0 2 0 0 0 0 0 0 1.786 201538 chr5 59983047 59983047 T A DEPDC1B Nonsynonymous SNV E19V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 201539 chr6 167570915 167570915 C T rs143766557 GPR31 Synonymous SNV S135S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 201540 chr15 59064358 59064358 C A MINDY2 Nonsynonymous SNV T255K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 201541 chr1 229730794 229730794 G A rs10218432 TAF5L Synonymous SNV G340G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.184 201542 chr17 47118839 47118839 C T rs139646507 IGF2BP1 Synonymous SNV T167T 0 0.005 0.01 0 0 2 0 3 0 0 0 0 16.29 201543 chr1 231557120 231557120 G A rs777466821 EGLN1 Nonsynonymous SNV A172V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.014 201544 chr1 23398622 23398622 T C KDM1A Synonymous SNV Y494Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.636 201545 chr1 23409821 23409821 A G rs772544963 KDM1A Synonymous SNV T847T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.857 201546 chr5 79024949 79024949 G C rs150802939 CMYA5 Nonsynonymous SNV V121L 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 201547 chr17 49354506 49354506 A G UTP18 Nonsynonymous SNV N285D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 201548 chr3 193363580 193363580 A G rs750061842 OPA1 Nonsynonymous SNV K491R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.29 201549 chr5 80369038 80369038 A T rs139613602 RASGRF2 Synonymous SNV G218G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.452 201550 chr6 17773796 17773796 A G rs140293391 KIF13A Synonymous SNV L1400L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.877 201551 chr15 72122642 72122642 C T rs142345927 MYO9A Nonsynonymous SNV R2283H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 201552 chr6 18264168 18264168 G C rs758325565 DEK Synonymous SNV P17P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 201553 chr4 15707209 15707209 C A rs567575083 BST1 Nonsynonymous SNV P87H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 201554 chr15 73076010 73076010 G A rs199948684 ADPGK Nonsynonymous SNV A8V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.48 201555 chr1 24123428 24123428 G A rs542192037 GALE Nonsynonymous SNV A216V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 201556 chr5 79744061 79744061 C T rs140681483 ZFYVE16 Nonsynonymous SNV P981S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.01 201557 chr15 74636309 74636309 T G rs143879080 CYP11A1 Nonsynonymous SNV E217A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23 201558 chr5 96512854 96512854 C T rs34916955 RIOK2 Nonsynonymous SNV R155H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 201559 chr15 77472416 77472416 C T rs200860058 PEAK1 Nonsynonymous SNV R618Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 201560 chr1 24687371 24687371 C G rs138744711 STPG1 Nonsynonymous SNV A253P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.912 201561 chr3 30819751 30819751 C T rs143542109 GADL1 Nonsynonymous SNV A438T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 16.33 201562 chr15 85197498 85197498 G A rs368919799 WDR73 Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.345 201563 chr3 39227504 39227504 C T rs147374766 XIRP1 Nonsynonymous SNV A1145T 0 0.005 0 0 0 2 0 0 0 0 0 0 30 201564 chr1 248402903 248402903 G A rs761848850 OR2M4 Nonsynonymous SNV V225I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.555 201565 chr6 36104468 36104468 C G rs115013068 MAPK13 Synonymous SNV A177A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.4 201566 chr6 126243917 126243917 C G rs142348095 NCOA7 Synonymous SNV L97L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 201567 chr6 109548813 109548813 C T CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 201568 chr1 26190323 26190323 A G rs772978544 PAQR7 Nonsynonymous SNV M3T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.55 201569 chr4 36093573 36093573 G C ARAP2 Nonsynonymous SNV S1452C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.2 201570 chr4 36230727 36230727 C T ARAP2 Nonsynonymous SNV E128K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.55 201571 chr20 58567433 58567433 A C rs371555887 CDH26 Nonsynonymous SNV R428S 0 0.005 0 0 0 2 0 0 0 0 0 0 9.442 201572 chr6 142409435 142409435 C A rs367683477 NMBR Nonsynonymous SNV V121F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 201573 chr6 146256490 146256490 T C rs570335250 SHPRH Nonsynonymous SNV K886R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.291 201574 chr20 61541318 61541318 G C rs376585082 DIDO1 Synonymous SNV G298G 0 0.005 0 0 0 2 0 0 0 0 0 0 1.78 201575 chr6 152770692 152770692 G A rs757238055 SYNE1 Synonymous SNV H1167H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.369 201576 chr6 47846965 47846965 T C rs554563949 PTCHD4 Nonsynonymous SNV R539G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.007 201577 chr6 132874144 132874144 A G TAAR8 Nonsynonymous SNV T105A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 201578 chr6 158438291 158438291 C T rs61733903 SYNJ2 Synonymous SNV Y61Y 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 15.72 201579 chr4 57182646 57182646 C T rs79900113 CRACD Nonsynonymous SNV A993V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 201580 chr20 62371833 62371833 C T rs576252805 SLC2A4RG Nonsynonymous SNV A77V 0 0.005 0 0 0 2 0 0 0 1 0 0 16.91 201581 chr3 52554447 52554447 G A rs143901118 STAB1 Nonsynonymous SNV R1844H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 201582 chr6 160106042 160106042 G A rs143582231 SOD2 Nonsynonymous SNV R84C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 201583 chr6 148808851 148808851 T A rs763850698 SASH1 Nonsynonymous SNV N198K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 201584 chr6 150005615 150005615 T C rs34793526 LATS1 Nonsynonymous SNV S204G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 8.538 201585 chr6 150690274 150690274 C G rs768765467 IYD Nonsynonymous SNV T36S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.003 201586 chr3 61548001 61548001 C T rs77802872 PTPRG Synonymous SNV L14L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.65 201587 chr3 62204526 62204526 G A rs771802509 PTPRG Synonymous SNV A719A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 201588 chr3 62556601 62556601 G A rs756554520 CADPS Synonymous SNV A530A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 201589 chr6 168265311 168265311 C T AFDN Synonymous SNV V62V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 201590 chr3 69239047 69239047 G T rs200578164 FRMD4B Nonsynonymous SNV P591T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.79 201591 chr18 10677856 10677856 C T rs147666072 PIEZO2 Nonsynonymous SNV A2544T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.7 201592 chr4 71844939 71844939 C A MOB1B Nonsynonymous SNV D168E 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 18.48 201593 chr16 4649344 4649344 C A C16orf96 Nonsynonymous SNV L1063I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 201594 chr1 51761789 51761789 G T TTC39A Nonsynonymous SNV D13E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.746 201595 chr3 9957103 9957103 C A rs773216468 IL17RE Nonsynonymous SNV P423Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 201596 chr6 27293447 27293447 G A rs145341532 VN1R10P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.551 201597 chr4 100336671 100336671 A G ADH7 Nonsynonymous SNV I367T 0 0.003 0 0 0 1 0 0 0 0 0 0 24 201598 chr4 100572640 100572640 C T rs772857804 C4orf54 Nonsynonymous SNV G1056S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.245 201599 chr18 33744614 33744614 A G rs141646549 ELP2 Synonymous SNV T576T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 1.91 201600 chr16 16232380 16232380 C T rs35148086 ABCC1 Synonymous SNV I1484I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.32 201601 chr4 84465729 84465729 C T rs201126462 GPAT3 Nonsynonymous SNV S61L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 201602 chr4 106345450 106345450 C T rs143718058 PPA2 Synonymous SNV V84V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 201603 chr16 18861617 18861617 C A SMG1 Nonsynonymous SNV S1742I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 201604 chr6 17637697 17637697 G C rs143824475 NUP153 Nonsynonymous SNV D675E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 201605 chr6 17706610 17706610 C G rs144916497 NUP153 Synonymous SNV S3S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.35 201606 chr6 35392126 35392126 C T rs201479741 PPARD Synonymous SNV I118I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 201607 chr6 17799501 17799501 C T KIF13A Nonsynonymous SNV C929Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 201608 chr6 35923052 35923052 G T SLC26A8 Nonsynonymous SNV S598R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 201609 chr6 24178685 24178685 C T rs771591530 DCDC2 Nonsynonymous SNV R400H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.6 201610 chr4 114279453 114279453 A C rs140604600 ANK2 Nonsynonymous SNV T3227P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 2.08 201611 chr6 39824089 39824089 G A rs775379327 DAAM2 Nonsynonymous SNV R4H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 201612 chr6 39836610 39836610 C T rs34941067 DAAM2 Synonymous SNV N258N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.216 201613 chr16 23767202 23767202 G A rs149102650 CHP2 Nonsynonymous SNV V59M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 201614 chr1 70654895 70654895 C T rs142788688 LRRC40 Synonymous SNV S71S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.17 201615 chr6 41250249 41250249 C T rs113487579 TREM1 Nonsynonymous SNV R97H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 201616 chr16 27840125 27840125 T C GSG1L Nonsynonymous SNV K221R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 201617 chr18 61256025 61256025 C T rs148885679 SERPINB13 Nonsynonymous SNV L42F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 201618 chr6 43025971 43025971 T C rs145305278 MRPL2 Nonsynonymous SNV M33V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 201619 chr18 61597418 61597418 C T rs76653736 SERPINB10 Synonymous SNV N210N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.032 201620 chr1 84961063 84961063 T C rs12126099 RPF1 Synonymous SNV L208L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 8.293 201621 chr6 44216426 44216426 A G HSP90AB1 Synonymous SNV E20E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.637 201622 chr22 19969136 19969136 C T rs375865872 ARVCF Nonsynonymous SNV R165Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 201623 chr7 100552605 100552605 C T rs369729950 MUC3A Synonymous SNV L1062L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 5.523 201624 chr6 47221076 47221076 G A rs112427137 TNFRSF21 Synonymous SNV L475L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.925 201625 chr6 5042873 5042873 G C rs188178764 LYRM4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.482 201626 chr6 51613051 51613051 A G rs183674012 PKHD1 Synonymous SNV N3121N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.017 201627 chr16 55613087 55613087 C T LPCAT2 Nonsynonymous SNV L461F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 201628 chr4 153273667 153273667 T G rs146217648 FBXW7 Synonymous SNV T72T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.269 201629 chr3 100352130 100352130 G A rs143646459 ADGRG7 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 201630 chr6 42946679 42946679 C T rs398123304 PEX6 Synonymous SNV G70G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.8 201631 chr6 7231675 7231675 G A rs547624264 RREB1 Nonsynonymous SNV A1115T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 201632 chr5 138378368 138378368 T G rs61745568 SIL1 Nonsynonymous SNV K132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.7 201633 chr16 67328891 67328891 T G rs200312357 KCTD19 Nonsynonymous SNV Q487P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 201634 chr20 1285641 1285641 A G rs141020147 SNPH Nonsynonymous SNV K143R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.98 201635 chr16 67965047 67965047 C T rs200758826 CTRL Nonsynonymous SNV G37E 0.002 0 0 0 2 0 0 0 0 0 0 0 30 201636 chr6 82461728 82461757 CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG - rs766507772 TENT5A D36_G45del 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 201637 chr19 1483709 1483709 C T rs376875738 PCSK4 Nonsynonymous SNV R444H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 201638 chr6 83938634 83938634 G A rs745631458 ME1 Nonsynonymous SNV T348I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 201639 chr16 71674429 71674429 C T rs367694179 MARVELD3 Synonymous SNV F244F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 201640 chr6 50683244 50683244 C G rs370268895 TFAP2D Nonsynonymous SNV S152C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 201641 chr5 140256513 140256513 A G rs188405716 PCDHA12 Nonsynonymous SNV K486E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.982 201642 chr5 140263657 140263657 G T rs137969621 PCDHA13 Nonsynonymous SNV G602C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 201643 chr4 178256864 178256864 T - rs750347927 NEIL3 F101Sfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 201644 chr19 2767647 2767647 C T rs774035487 SGTA Synonymous SNV T46T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 201645 chr6 55039413 55039413 C T rs41271310 HCRTR2 Nonsynonymous SNV P10S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.1 201646 chr7 100481718 100481718 G A rs145327657 SRRT Synonymous SNV E205E 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Benign 9.502 201647 chr6 56483243 56483243 G T rs772956942 DST Synonymous SNV L1863L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.976 201648 chr20 21377134 21377134 C G rs756175522 NKX2-4 Synonymous SNV V160V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.69 201649 chr16 77465216 77465216 G A rs140980210 ADAMTS18 Synonymous SNV V157V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 201650 chr4 187509969 187509969 G A FAT1 Nonsynonymous SNV P4515L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.17 201651 chr7 142605742 142605742 C T TRPV5 Nonsynonymous SNV G710R 0.001 0 0 0 1 0 0 0 0 0 0 0 27 201652 chr22 42089672 42089672 C T rs141781026 C22orf46 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.769 201653 chr4 3076662 3076662 - GC rs765098132 HTT Frameshift insertion Q38Hfs*64 0 0.003 0 0 0 1 0 0 0 0 0 0 201654 chr4 3076663 3076663 - GCAGCAGCAG HTT Frameshift insertion Q38Afs*48 0 0.003 0 0 0 1 0 0 0 0 0 0 201655 chr4 37448296 37448296 C T rs539861051 NWD2 Synonymous SNV H1562H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.15 201656 chr16 84513587 84513587 C T rs140354527 MEAK7 Nonsynonymous SNV A435T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 201657 chr16 84520416 84520416 C A rs142709098 MEAK7 Nonsynonymous SNV R260L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.455 201658 chr6 84862752 84862752 G A rs140046798 CEP162 Synonymous SNV A971A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 201659 chr4 39236461 39236461 A G rs373737104 WDR19 Nonsynonymous SNV I617V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 23.6 201660 chr20 35579903 35579903 C T rs140157384 SAMHD1 Synonymous SNV E48E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.03 201661 chr16 88105732 88105732 G A rs139148209 BANP Nonsynonymous SNV V415M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 201662 chr22 46658525 46658525 C A PKDREJ Nonsynonymous SNV R232L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.205 201663 chr6 90402708 90402708 G C rs781466607 MDN1 Synonymous SNV L3347L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.569 201664 chr22 47189505 47189505 A T rs151001225 TBC1D22A Nonsynonymous SNV E57V 0 0.005 0 0 0 2 0 0 0 0 0 0 24 201665 chr20 401540 401540 A G rs377605009 RBCK1 Nonsynonymous SNV N219S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 201666 chr7 102781956 102781956 T C RPL19P12 0 0 0.01 0 0 0 0 3 0 0 0 0 13.48 201667 chr16 88697588 88697588 G A rs368266096 ZC3H18 Nonsynonymous SNV A915T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 201668 chr4 46979450 46979450 A G rs767042484 GABRA4 Synonymous SNV N157N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.345 201669 chr7 107745055 107745055 G A rs145069809 LAMB4 Stop gain Q294X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 201670 chr19 8656738 8656738 G A rs147694025 ADAMTS10 Nonsynonymous SNV S72L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.44 201671 chr4 54011513 54011513 C G SCFD2 Synonymous SNV L516L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.43 201672 chr16 88815820 88815820 G A rs112488313 PIEZO1 Synonymous SNV F44F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.462 201673 chr16 88902643 88902643 G A rs7187889 GALNS Nonsynonymous SNV T15M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.7 201674 chr16 88909445 88909445 T C rs28493584 GALNS Nonsynonymous SNV D44G 0.003 0.008 0 0 4 3 0 0 0 0 0 0 1.625 201675 chr16 88927312 88927312 C T rs111674366 TRAPPC2L Nonsynonymous SNV S129F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.316 201676 chr20 44650516 44650516 G A rs773808264 SLC12A5 Nonsynonymous SNV D38N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 21.7 201677 chr4 57215523 57215523 G A rs144474009 AASDH Synonymous SNV D313D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.076 201678 chr20 46279849 46279866 CAGCAGCAGCAGCAGCAA - rs776768853 NCOA3 Q1270_Q1275del 0 0 0 1 0 0 0.003 0 0 0 0 0 201679 chr16 89349233 89349233 G A rs770592482 ANKRD11 Synonymous SNV P1239P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.913 201680 chr7 123302456 123302456 C T rs371407041 LMOD2 Synonymous SNV N272N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.218 201681 chr17 263264 263264 - GCCCTCAAGGGCTTCCACCCCGACCCCGAC C17orf97 P229_E230insDALKGFHPDP 0.001 0 0 0 1 0 0 0 0 0 0 0 201682 chr20 48252858 48252858 G A rs146449189 B4GALT5 Synonymous SNV N386N 0.007 0.003 0.01 2 8 1 0.005 3 0 0 0 0 11.42 201683 chr7 128480098 128480098 G A rs749593461 FLNC Nonsynonymous SNV R478H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 201684 chr17 1381390 1381390 C T rs142534772 MYO1C Synonymous SNV E464E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 201685 chr5 176793319 176793319 G A rs77767937 RGS14 Nonsynonymous SNV R70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 201686 chr17 1538240 1538240 T C rs779421859 SCARF1 Nonsynonymous SNV M769V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 201687 chr7 128766939 128766939 A C rs61747603 LOC407835 0 0 0.017 0 0 0 0 5 0 0 0 0 4.913 201688 chr4 70455274 70455274 C T rs150861593 UGT2A1, UGT2A2 Nonsynonymous SNV R432H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 201689 chr17 1686729 1686729 C T rs764044098 SMYD4 Nonsynonymous SNV E688K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 201690 chr17 1703857 1703857 C T rs138794221 SMYD4 Synonymous SNV P277P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 201691 chr7 2749348 2749348 G A rs150265717 AMZ1 Nonsynonymous SNV A226T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.364 201692 chr20 58349485 58349485 C T rs777353079 PHACTR3 Nonsynonymous SNV L261F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 201693 chr4 74274363 74274363 A G rs142714816 ALB Nonsynonymous SNV Y108C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.8 201694 chr17 3493661 3493661 G A rs201373617 TRPV1 Synonymous SNV I210I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.758 201695 chr4 77816631 77816631 T C rs140407360 SOWAHB Nonsynonymous SNV Y791C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 201696 chr20 60928324 60928324 C T rs568658686 LAMA5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.732 201697 chr7 142566371 142566371 C T rs6464535 EPHB6 Synonymous SNV A428A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 201698 chr7 100683160 100683160 A G rs757258634 MUC17 Synonymous SNV P2821P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 201699 chr7 142636783 142636783 A G rs145921401 LLCFC1 Nonsynonymous SNV Q47R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 201700 chr7 142640004 142640004 T C rs8176039 KEL Synonymous SNV L633L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 201701 chr17 4803666 4803666 G A rs751207238 C17orf107 Synonymous SNV G137G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.18 201702 chr17 5347648 5347648 C T rs375077389 DHX33 Synonymous SNV V494V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.17 201703 chr19 14876507 14876507 G A rs776535410 ADGRE2 Synonymous SNV H248H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.824 201704 chr7 111936283 111936283 G T rs181316730 ZNF277 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 201705 chr7 47925520 47925520 C T rs141646493 PKD1L1 Nonsynonymous SNV R990Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 0.059 201706 chr7 116339494 116339494 C T rs904162290 MET Nonsynonymous SNV A119V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 201707 chr7 1197308 1197308 G A rs111354345 ZFAND2A Nonsynonymous SNV P45L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 201708 chr4 94137900 94137900 T C GRID2 Synonymous SNV D172D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.459 201709 chr7 1579864 1579864 C T MAFK Synonymous SNV R108R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 201710 chr17 7344777 7344778 TC - rs746289523 FGF11 P5Rfs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 201711 chr7 158384290 158384290 C T rs143467327 LINC01022 0 0 0.024 0 0 0 0 7 0 0 0 0 0.525 201712 chr7 128415611 128415611 G A rs141770175 OPN1SW Synonymous SNV F78F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.99 201713 chr7 20698712 20698712 A G ABCB5 X132W 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 201714 chr5 56205514 56205514 C G SETD9 Synonymous SNV R14R 0.003 0 0 0 3 0 0 0 0 0 0 0 15.11 201715 chr5 112176565 112176565 T A rs199600387 APC Synonymous SNV S1740S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign/Likely benign 0.073 201716 chr21 34400107 34400107 G A rs527772945 OLIG2 Nonsynonymous SNV G313S 0.003 0 0 6 4 0 0.015 0 0 0 0 0 22.9 201717 chr7 129962366 129962366 C A rs143094036 CPA4 Nonsynonymous SNV D339E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.732 201718 chr10 103826900 103826900 C T rs776774287 HPS6 Nonsynonymous SNV P557S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 201719 chr7 6450011 6450011 A G DAGLB Nonsynonymous SNV Y395H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 30 201720 chr19 19312284 19312284 T C rs187406875 NR2C2AP Synonymous SNV X168X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.07 201721 chr17 12819325 12819325 G A rs371444790 ARHGAP44 Synonymous SNV A128A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.653 201722 chr17 12893427 12893427 G A rs375812578 ARHGAP44 Nonsynonymous SNV R793Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 201723 chr5 132098215 132098215 C T rs193038181 SEPTIN8 Synonymous SNV T219T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.32 201724 chr5 76729025 76729025 C T rs138299688 WDR41 Nonsynonymous SNV G439R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.67 201725 chr7 36466567 36466567 A G rs770248727 ANLN Nonsynonymous SNV N901S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 201726 chr7 1474764 1474764 T C rs762878613 MICALL2 Nonsynonymous SNV M871V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 201727 chr17 18022165 18022165 G C rs754753822 MYO15A Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.312 201728 chr7 148947829 148947829 C T rs146104667 ZNF212 Synonymous SNV L158L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 201729 chr5 79034198 79034201 AAAA - rs772670322 CMYA5 K3204Rfs*13 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 201730 chr7 98579529 98579529 C T rs374891167 TRRAP Synonymous SNV R2899R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.21 201731 chr7 99473693 99473693 G A rs574517281 OR2AE1 Stop gain R322X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 201732 chr17 21201791 21201791 C T rs77066538 MAP2K3 Nonsynonymous SNV T10I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24 201733 chr7 44190645 44190645 G A rs139139350 GCK Synonymous SNV S131S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.94 201734 chr8 100493911 100493911 A G rs184693266 VPS13B Nonsynonymous SNV T1251A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 201735 chr5 89757164 89757164 G T rs148581020 MBLAC2 Nonsynonymous SNV D220E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.6 201736 chr7 46736691 46736691 G C rs550024221 LOC730338 0 0 0.007 0 0 0 0 2 0 0 0 0 4.176 201737 chr7 150771230 150771230 G A rs757751493 SLC4A2 Synonymous SNV P871P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.412 201738 chr7 47408305 47408305 A C rs76637739 TNS3 Synonymous SNV G646G 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.001 201739 chr5 140176629 140176629 G A rs145817011 PCDHA2 Nonsynonymous SNV V694M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 201740 chr5 90084006 90084006 C T rs369108080 ADGRV1 Nonsynonymous SNV T4591I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 23.8 201741 chr19 35523525 35523525 G A rs180943300 SCN1B Nonsynonymous SNV R45H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.3 201742 chr17 26961799 26961799 C A rs148022276 KIAA0100 Nonsynonymous SNV A793S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.62 201743 chr5 140751254 140751254 G C rs201325462 PCDHGB3 Synonymous SNV P431P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.261 201744 chr7 158902588 158902588 G A VIPR2 Synonymous SNV N58N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 201745 chr7 16298075 16298075 C T rs181099904 CRPPA Synonymous SNV K303K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.33 201746 chr7 16298080 16298080 G T rs185594460 CRPPA Nonsynonymous SNV Q302K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.801 201747 chr5 96248496 96248496 T C rs142362923 ERAP2 Nonsynonymous SNV L792S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.2 201748 chr17 29645473 29645473 C T rs140933050 EVI2A Nonsynonymous SNV G187S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 201749 chr22 20102842 20102842 C T rs116894571 TRMT2A Synonymous SNV V279V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 14.58 201750 chr8 11174321 11174321 A G MTMR9 Nonsynonymous SNV N418S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.1 201751 chr22 21380900 21380900 C T rs145119516 P2RX6 Nonsynonymous SNV A285V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 6.818 201752 chr7 2255881 2255881 C A rs370925896 MAD1L1 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 201753 chr7 6661527 6661527 T G rs552407084 ZNF853 Nonsynonymous SNV L287W 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 15.14 201754 chr17 33884688 33884688 G A rs199663871 SLFN14 Nonsynonymous SNV R132W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.711 201755 chr7 7559716 7559716 C T rs546405905 COL28A1 Nonsynonymous SNV E264K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 201756 chr19 39421966 39421966 A G rs752006596 MRPS12 Nonsynonymous SNV N11S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 201757 chr19 39591613 39591613 C T rs200240965 ACP7 Nonsynonymous SNV R278W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 201758 chr6 111709006 111709006 T G rs139443633 REV3L Nonsynonymous SNV N353T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.1 201759 chr7 30029808 30029808 C G SCRN1 Nonsynonymous SNV E17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.259 201760 chr17 38251343 38251343 G A rs202246593 NR1D1 Nonsynonymous SNV R427C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 201761 chr17 38926554 38926554 C G rs371574424 KRT26 Nonsynonymous SNV C211S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 201762 chr7 31008541 31008541 C A GHRHR Nonsynonymous SNV N50K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 201763 chr7 893202 893202 G A rs757340477 SUN1 Nonsynonymous SNV A301T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 201764 chr7 89929222 89929222 G T CFAP69 Nonsynonymous SNV M633I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 201765 chr5 150930167 150930167 T G FAT2 Nonsynonymous SNV H1521P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 201766 chr7 37780908 37780908 C T rs76924160 GPR141 Nonsynonymous SNV R305C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 201767 chr19 42866548 42866548 C A rs34475546 MEGF8 Nonsynonymous SNV R1886S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 201768 chr8 101075659 101075659 G A rs778878247 RGS22 Nonsynonymous SNV P265L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 201769 chr8 10920430 10920430 C G rs189923952 LOC101929269 0 0 0.01 0 0 0 0 3 0 0 0 0 5.639 201770 chr8 110417228 110417228 T C rs367948306 PKHD1L1 Nonsynonymous SNV I513T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 201771 chr6 144179106 144179106 A C rs759833859 LTV1 Nonsynonymous SNV N74H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 201772 chr5 168100240 168100240 G A SLIT3 Synonymous SNV S1268S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 201773 chr6 144183353 144183353 G A rs145925329 LTV1 Nonsynonymous SNV E167K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.9 201774 chr6 146231602 146231602 C T rs201883584 SHPRH Synonymous SNV E1499E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 201775 chr6 147109539 147109539 C A ADGB Nonsynonymous SNV R1444S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.346 201776 chr6 150184957 150184957 T C rs778964132 LRP11 Nonsynonymous SNV Q67R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 201777 chr7 5540957 5540957 T G rs200815360 FBXL18 Nonsynonymous SNV N315H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 201778 chr8 126033090 126033090 G T rs182080432 SQLE Synonymous SNV A503A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.77 201779 chr17 42431605 42431605 G A FAM171A2 Synonymous SNV D659D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.801 201780 chr7 70255653 70255653 G A AUTS2 Nonsynonymous SNV E1127K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 201781 chr17 45734238 45734238 T C rs769293513 KPNB1 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.504 201782 chr22 44340605 44340605 G A PNPLA3 Nonsynonymous SNV V383I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 201783 chr7 76029679 76029679 C A rs149419007 SSC4D Synonymous SNV A133A 0.001 0 0 0 1 0 0 0 0 0 0 0 21 201784 chr7 77210769 77210769 A C PTPN12 Synonymous SNV T78T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.326 201785 chr8 18729774 18729774 T C rs750586500 PSD3 Synonymous SNV S167S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.85 201786 chr7 80293768 80293772 ATAAC - rs768699378 CD36 N65Kfs*2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 201787 chr7 82508670 82508670 G A rs576824740 PCLO Nonsynonymous SNV T4546M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 201788 chr17 48777221 48777223 TCA - rs774926022 ANKRD40 D106del 0.001 0 0 0 1 0 0 0 0 0 0 0 201789 chr17 48918068 48918068 C T rs146472388 WFIKKN2 Synonymous SNV T380T 0.005 0 0 0 6 0 0 0 0 0 0 0 10.66 201790 chr7 86794353 86794353 C T rs114529792 DMTF1 Synonymous SNV H32H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.04 201791 chr7 86800324 86800324 T G rs114136038 DMTF1 Nonsynonymous SNV D82E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.53 201792 chr7 86986863 86986863 T C rs75642989 CROT Synonymous SNV D52D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.013 201793 chr7 87049383 87049383 C G rs8187802 ABCB4 Synonymous SNV T775T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.79 201794 chr5 35965583 35965583 T A rs149225186 UGT3A1 Nonsynonymous SNV N250Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 201795 chr17 56342096 56342096 G A rs143814979 LPO Nonsynonymous SNV R344K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 201796 chr5 38485983 38485983 C T rs143995164 LIFR Nonsynonymous SNV R812Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 201797 chr17 58342818 58342818 G C rs768445207 USP32 Synonymous SNV L315L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 201798 chr17 59067554 59067554 G A rs762951835 BCAS3 Nonsynonymous SNV V482I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 201799 chr19 50158097 50158097 C T rs746778286 SCAF1 Synonymous SNV S1196S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.13 201800 chr5 41176625 41176625 C T rs143839537 C6 Nonsynonymous SNV V374M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 201801 chr19 50912060 50912060 C T rs369152704 POLD1 Synonymous SNV I624I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 18.78 201802 chr17 61607552 61607552 G A rs778254078 KCNH6 Synonymous SNV L136L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.18 201803 chr8 145618265 145618265 G A ADCK5 Synonymous SNV E573E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.341 201804 chr6 17616922 17616922 C T rs372772287 NUP153 Synonymous SNV S1351S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.496 201805 chr8 145678799 145678799 T C rs961362052 CYHR1 Synonymous SNV L139L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.21 201806 chr5 52778855 52778855 G A rs138906433 FST Synonymous SNV K77K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 201807 chr8 104080933 104080933 T C rs138383098 ATP6V1C1 Synonymous SNV Y369Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 201808 chr5 59982791 59982791 G A DEPDC1B Synonymous SNV Y104Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.76 201809 chr5 63509839 63509839 A G rs146938584 RNF180 Nonsynonymous SNV H229R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.86 201810 chr8 41348456 41348456 C G rs761325306 GOLGA7 Nonsynonymous SNV T28S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 201811 chr6 27100236 27100236 G C rs748451789 H2BC11 Synonymous SNV A98A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 3.547 201812 chr8 2054308 2054308 T A rs377486672 MYOM2 Nonsynonymous SNV D973E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.02 201813 chr8 11615963 11615963 C T rs779684582 GATA4 Synonymous SNV H437H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.58 201814 chr8 24773141 24773141 T C rs59419000 NEFM Synonymous SNV N368N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 not provided 9.132 201815 chr6 34214587 34214587 T C SMIM29 Nonsynonymous SNV K101R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 201816 chr8 71510392 71510392 C T rs144360822 TRAM1 Nonsynonymous SNV V10I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.41 201817 chr8 71646625 71646625 G C rs148334859 XKR9 Nonsynonymous SNV R363T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.532 201818 chr2 128367140 128367140 G A rs757563947 MYO7B Synonymous SNV A958A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.42 201819 chr17 74003758 74003758 G A rs202020424 EVPL Nonsynonymous SNV T1865M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 201820 chr8 27657082 27657082 A G rs114956994 ESCO2 Nonsynonymous SNV I508V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.003 201821 chr8 27668515 27668515 C T rs2272691 PBK Synonymous SNV S255S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.15 201822 chr5 7885945 7885945 A G rs140944718 MTRR Nonsynonymous SNV I345M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.002 201823 chr8 27680615 27680615 T A rs62001048 PBK Nonsynonymous SNV K87M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.4 201824 chr8 27729527 27729527 C T rs61737287 SCARA5 Nonsynonymous SNV R471H 0.005 0.003 0.003 0 6 1 0 1 0 0 0 0 23.3 201825 chr8 28384979 28384979 T G rs28639533 FZD3 Synonymous SNV P234P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.851 201826 chr2 135630090 135630090 G A rs199569492 ACMSD Nonsynonymous SNV R185H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 201827 chr8 2944647 2944647 C T CSMD1 Synonymous SNV Q2482Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.141 201828 chr8 30539471 30539471 T C rs199709765 GSR Nonsynonymous SNV I339V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 201829 chr8 134025862 134025862 G A rs767357278 TG Nonsynonymous SNV A2139T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 201830 chr8 51415344 51415344 G T rs189367709 SNTG1 Nonsynonymous SNV V124F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 201831 chr8 67108995 67108995 C G LINC00967 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 201832 chr17 79096100 79096100 C G rs62073020 AATK Nonsynonymous SNV D443H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 24.3 201833 chr6 42993030 42993030 T C RRP36 Nonsynonymous SNV V103A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 201834 chr8 72234442 72234442 G A rs766475601 EYA1 Synonymous SNV Y88Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.864 201835 chr17 79349904 79349904 T C rs4622572 LOC100130370 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 1.564 201836 chr17 79359058 79359058 G A LOC100130370 0.001 0 0 0 1 0 0 0 0 0 0 0 2.454 201837 chr17 79539073 79539073 C A rs17852307 NPLOC4 Synonymous SNV R446R 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Benign 15.04 201838 chr8 144659998 144659998 G T rs145565666 NAPRT Synonymous SNV L114L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 15.52 201839 chr8 144943220 144943222 TTG - rs530092878 EPPK1 N1400del 0.001 0 0 0 1 0 0 0 0 0 0 0 201840 chr6 46830788 46830788 G C ADGRF5 Nonsynonymous SNV P679R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 201841 chr8 90937070 90937070 A G rs77518049 OSGIN2 Synonymous SNV E320E 0 0 0.014 1 0 0 0.003 4 0 0 0 0 2.013 201842 chr8 144997302 144997302 G A rs782009515 PLEC Synonymous SNV F2251F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.167 201843 chr8 97258130 97258130 C T rs139141829 MTERF3 Synonymous SNV R285R 0 0 0.007 0 0 0 0 2 0 0 0 0 16.28 201844 chr9 116356750 116356750 C T rs758237986 RGS3 Nonsynonymous SNV R11W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 201845 chr9 100133893 100133893 A G rs201813114 CCDC180 Nonsynonymous SNV N1546S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.851 201846 chr19 58102049 58102049 C T rs138510044 ZIK1 Synonymous SNV T187T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 201847 chr9 101258698 101258698 C T rs765930350 GABBR2 Synonymous SNV L243L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 201848 chr9 104341616 104341616 G A rs138075207 GRIN3A Synonymous SNV F931F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 201849 chr6 130031219 130031219 G A rs138062778 ARHGAP18 Synonymous SNV D21D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.01 201850 chr2 179452459 179452459 G A rs376800688 TTN Nonsynonymous SNV R12128C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 201851 chr9 114911614 114911614 G A rs147721109 SUSD1 Nonsynonymous SNV P95S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 201852 chr9 115760265 115760265 G A ZNF883 Nonsynonymous SNV T92I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 201853 chr9 125486738 125486738 C T rs759526129 OR1L4 Nonsynonymous SNV S157F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 201854 chr18 21484017 21484017 C T rs139893499 LAMA3 Nonsynonymous SNV R482W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 201855 chr8 195715 195715 C G rs762899868 ZNF596 Nonsynonymous SNV H290D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.241 201856 chr18 21735917 21735917 C G rs766944130 CABYR Nonsynonymous SNV T53S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 201857 chr6 142736157 142736157 A G ADGRG6 Nonsynonymous SNV T837A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 201858 chr6 144086473 144086473 G A rs566532922 PHACTR2 Nonsynonymous SNV R177H 0 0.003 0 0 0 1 0 0 0 0 0 0 22 201859 chr20 2083439 2083439 C T STK35 Nonsynonymous SNV P107L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.2 201860 chr6 147123086 147123086 T C rs190201915 ADGB Nonsynonymous SNV I1586T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.508 201861 chr6 8097583 8097583 C T rs370337321 EEF1E1 Nonsynonymous SNV A69T 0.002 0 0 0 2 0 0 0 0 0 0 0 34 201862 chr9 123667304 123667304 G A rs61749210 TRAF1 Synonymous SNV S293S 0 0 0.01 0 0 0 0 3 0 0 0 0 10.6 201863 chr6 90097157 90097157 A G RRAGD Nonsynonymous SNV C101R 0.001 0 0 0 1 0 0 0 0 0 0 0 21 201864 chr6 90398519 90398519 G A MDN1 Synonymous SNV L3678L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.97 201865 chr9 125316292 125316292 A C rs574887998 OR1N2 Nonsynonymous SNV T268P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.37 201866 chr6 96651709 96651709 C T rs147593239 FUT9 Synonymous SNV V226V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.98 201867 chr8 24358351 24358351 G T rs143839830 ADAM7 Nonsynonymous SNV G684V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 201868 chr18 45566991 45567005 TCCTCCTCCTCTTCC - rs755239814 ZBTB7C E158_E162del 0.001 0 0 0 1 0 0 0 0 0 0 0 201869 chr8 25101192 25101192 A G rs140538988 DOCK5 Nonsynonymous SNV I16V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.37 201870 chr9 131939594 131939594 G A rs371039128 IER5L Synonymous SNV F246F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.71 201871 chr6 152671343 152671343 C G rs7775119 SYNE1 Nonsynonymous SNV S3954T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.08 201872 chr6 152688371 152688371 G A rs73626656 SYNE1 Synonymous SNV S3325S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.863 201873 chr6 152711429 152711429 G A rs58905396 SYNE1 Synonymous SNV S2728S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 16.77 201874 chr8 28217164 28217164 C T rs199950618 ZNF395 Nonsynonymous SNV G140R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.08 201875 chr11 133789912 133789912 C T rs115902430 IGSF9B Synonymous SNV E1236E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.229 201876 chr11 134037919 134037919 T C NCAPD3 Nonsynonymous SNV Q1044R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 201877 chr9 131037701 131037701 C T rs1013946637 SWI5 Synonymous SNV T5T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 201878 chr20 23383668 23383668 C A NAPB Nonsynonymous SNV R47I 0 0.003 0 0 0 1 0 0 0 0 0 0 34 201879 chr6 161470768 161470768 C T rs201628007 MAP3K4 Synonymous SNV D488D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.167 201880 chr6 161519424 161519424 G A rs74377337 MAP3K4 Synonymous SNV V1209V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.041 201881 chr9 131709260 131709260 T C rs779008975 DOLK Nonsynonymous SNV E108G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 201882 chr8 48650500 48650500 G T rs201314130 CEBPD Nonsynonymous SNV F61L 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 23.3 201883 chr6 169639717 169639717 T A THBS2 Nonsynonymous SNV E369V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 201884 chr9 138678160 138678160 C T rs200642629 KCNT1 Nonsynonymous SNV P1054S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.662 201885 chr6 170592945 170592945 C T rs3734776 DLL1 Synonymous SNV T474T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 13.66 201886 chr8 6302549 6302549 C T MCPH1 Nonsynonymous SNV P388S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.793 201887 chr18 71807493 71807493 G A rs765884442 FBXO15 Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 201888 chr18 72997831 72997831 A - TSHZ1 T157Pfs*105 0.002 0 0.003 0 2 0 0 1 0 0 0 0 201889 chr9 137293554 137293554 G A rs371730041 RXRA Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 201890 chr8 73921382 73921382 C T rs56349932 TERF1 Synonymous SNV C87C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.73 201891 chr9 138664656 138664656 G A rs550447485 KCNT1 Nonsynonymous SNV G657S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 201892 chr9 139221567 139221567 C A rs72775735 DKFZP434A062 0 0 0.02 0 0 0 0 6 0 0 0 0 6.12 201893 chr9 139391737 139391737 C G rs116317506 NOTCH1 Nonsynonymous SNV G2152R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.044 201894 chr2 219452034 219452034 C T rs181874537 CNOT9 Nonsynonymous SNV T146M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.306 201895 chr9 140322490 140322490 A G rs747403058 NOXA1 Nonsynonymous SNV Q89R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 201896 chr9 139841140 139841140 C T rs779956298 C8G Synonymous SNV D198D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.391 201897 chr9 139929152 139929152 G A rs41309978 C9orf139 Synonymous SNV R73R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.398 201898 chr9 140881271 140881271 G A CACNA1B Nonsynonymous SNV D647N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 201899 chr9 140094394 140094394 G A rs745997859 TPRN Nonsynonymous SNV P257L 0.002 0 0.003 0 2 0 0 1 1 0 0 0 13.44 201900 chr9 140245582 140245582 C A EXD3 Nonsynonymous SNV D468Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 201901 chr20 56098806 56098806 C A rs61754541 CTCFL Nonsynonymous SNV Q152H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.895 201902 chr9 17457638 17457638 A T rs755677968 CNTLN Synonymous SNV P1076P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.131 201903 chr6 35467877 35467877 A G rs121909075 TULP1 Nonsynonymous SNV I406T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 201904 chr19 2129136 2129136 C T rs368546207 AP3D1 Synonymous SNV P253P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.384 201905 chr9 21854713 21854713 C T rs1038628856 MTAP Synonymous SNV S178S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 201906 chr9 112924410 112924410 G A rs140234906 PALM2AKAP2 Nonsynonymous SNV E929K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 201907 chr9 35906550 35906550 - CCACCACCACCC HRCT1 P93_R94insHHHP 0.001 0 0 0 1 0 0 0 0 0 0 0 201908 chr9 116811409 116811409 G A rs140970290 ZNF618 Synonymous SNV S576S 0.006 0 0 0 7 0 0 0 0 0 0 0 7.786 201909 chr7 140453146 140453146 G A rs121913369 BRAF Synonymous SNV L597L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.87 201910 chr6 43308172 43308172 C G rs552830297 ZNF318 Synonymous SNV V1188V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.375 201911 chr6 43400073 43400073 C G rs149850309 ABCC10 Nonsynonymous SNV L76V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.58 201912 chr6 43739025 43739025 G A rs148486700 VEGFA Synonymous SNV L194L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.47 201913 chr6 43968380 43968380 C T rs777349556 C6orf223, LOC101929705 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 201914 chr7 143091918 143091918 C T rs373447921 EPHA1 Nonsynonymous SNV G779S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 201915 chr9 119976883 119976883 A T rs139148246 ASTN2 Nonsynonymous SNV S257T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 23 201916 chr7 143747916 143747916 G A rs200668050 OR2A5 Nonsynonymous SNV C141Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 201917 chr9 77377566 77377566 A T rs199791095 TRPM6 Nonsynonymous SNV Y1336N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 201918 chr19 5664103 5664103 C T SAFB Nonsynonymous SNV R584C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 201919 chr7 1481903 1481903 C A rs141206892 MICALL2 Nonsynonymous SNV G546C 0.003 0 0 0 3 0 0 0 0 0 0 0 21.9 201920 chr6 47686160 47686160 A G rs144151034 ADGRF4 Synonymous SNV L690L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.275 201921 chr7 148989381 148989381 G T rs900798696 LOC155060 0.001 0 0 0 1 0 0 0 0 0 0 0 6.064 201922 chr9 126129566 126129566 C T rs143804347 CRB2 Synonymous SNV A290A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 14.37 201923 chr9 95228647 95228647 G A rs144954352 ASPN Synonymous SNV H197H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.486 201924 chr19 7694391 7694391 G C rs146660753 XAB2 Nonsynonymous SNV S8W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 201925 chr2 27305120 27305120 G A rs150542277 EMILIN1 Synonymous SNV A227A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.924 201926 chr9 98735180 98735180 C T rs757160540 ERCC6L2 Synonymous SNV S1060S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.935 201927 chr9 128001789 128001789 T C HSPA5 Synonymous SNV V172V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.238 201928 chr7 150554155 150554155 T C AOC1 Synonymous SNV S199S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 201929 chr6 553856 553856 A G EXOC2 Nonsynonymous SNV S707P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.73 201930 chr9 130487178 130487178 T A TTC16 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 201931 chr2 27883881 27883881 C T rs201094706 SUPT7L Nonsynonymous SNV R130Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 201932 chr9 130504136 130504136 G T rs370517654 SH2D3C Synonymous SNV A515A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.393 201933 chrM 1890 1890 G A RNR2 0 0 0.034 0 0 0 0 10 0 0 5 0 201934 chrX 107936016 107936016 C A rs201220208 COL4A5 Nonsynonymous SNV P1517T 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 31 201935 chrX 110980066 110980066 T C rs781459134 ALG13 Nonsynonymous SNV I723T 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 8.947 201936 chr6 73904782 73904782 T G KCNQ5 Nonsynonymous SNV L705R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 201937 chrX 118370597 118370597 A T rs754289545 PGRMC1 Nonsynonymous SNV M91L 0 0 0.007 0 0 0 0 2 0 0 1 0 14.46 201938 chrX 120182715 120182715 G A rs200024208 GLUD2 Nonsynonymous SNV A393T 0 0 0.007 0 0 0 0 2 0 0 1 0 24.8 201939 chr2 33526654 33526654 T C rs747247267 LTBP1 Nonsynonymous SNV F816L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 201940 chr2 37296071 37296071 C T rs147136022 HEATR5B Synonymous SNV A310A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.113 201941 chr6 75912482 75912482 A T COL12A1 Synonymous SNV L9L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.137 201942 chr6 7727475 7727475 T C rs200573175 BMP6 Nonsynonymous SNV L96P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 24.6 201943 chr7 21469603 21469603 G A rs760362244 SP4 Nonsynonymous SNV V257M 0.002 0 0 0 2 0 0 0 0 0 0 0 18.21 201944 chr9 134027212 134027212 T C NUP214 Synonymous SNV N779N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.71 201945 chrX 140994491 140994595 CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCTTTCTCCTACACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTA - MAGEC1 F451_S485del 0 0 0.007 0 0 0 0 2 0 0 1 0 201946 chr9 134323142 134323142 C T PRRC2B Synonymous SNV N357N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 201947 chrX 148797788 148797788 T G rs374038807 MAGEA11 Synonymous SNV P185P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.125 201948 chr6 82933335 82933335 A C IBTK Nonsynonymous SNV C316G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.4 201949 chr6 84894959 84894959 T C CEP162 Nonsynonymous SNV I461V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 201950 chr2 43927268 43927268 C G PLEKHH2 Nonsynonymous SNV Q391E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 201951 chr6 88391405 88391405 C T rs62000376 AKIRIN2 Synonymous SNV Q104Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.57 201952 chr6 88391471 88391471 C A AKIRIN2 Synonymous SNV L82L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 201953 chrX 153186576 153186576 G A ARHGAP4 Synonymous SNV L158L 0 0 0.007 0 0 0 0 2 0 0 1 0 9.966 201954 chr19 9050219 9050219 C T rs147543535 MUC16 Nonsynonymous SNV R10471K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.112 201955 chrX 153071559 153071559 G A PDZD4 Synonymous SNV D63D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 201956 chr7 29070216 29070216 G A rs371059469 CPVL Nonsynonymous SNV R255W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 201957 chrX 153588458 153588458 G A rs368741634 FLNA Synonymous SNV Y1235Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 201958 chr2 55253414 55253414 A C RTN4 Synonymous SNV P401P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.084 201959 chr9 139250159 139250159 G A rs781968442 GPSM1 Synonymous SNV P491P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.366 201960 chr2 64176251 64176251 T C rs139082064 VPS54 Nonsynonymous SNV M341V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.8 201961 chr19 10429859 10429859 C T rs184591581 RAVER1 Nonsynonymous SNV G610R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.14 201962 chr7 37780346 37780346 C T rs969471127 GPR141 Synonymous SNV F117F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 201963 chr9 140140288 140140288 G A rs149839167 FAM166A Nonsynonymous SNV P25L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 201964 chrX 54481942 54481942 G T FGD1 Nonsynonymous SNV L652I 0.001 0 0 0 1 0 0 0 0 0 0 0 17 201965 chr9 140350936 140350936 C T rs747436973 NSMF Nonsynonymous SNV D211N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 201966 chr10 101122084 101122084 C T rs117724968 CNNM1 Synonymous SNV N653N 0.001 0.003 0.02 0 1 1 0 6 0 0 0 0 11.59 201967 chr10 101162353 101162353 G A rs142758722 GOT1 Synonymous SNV S362S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 201968 chr19 11688116 11688116 G A rs182776939 ACP5 Nonsynonymous SNV A6V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.198 201969 chr10 104241931 104241931 A G rs201449627 ACTR1A Nonsynonymous SNV I251T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 201970 chr7 44733571 44733571 A C rs2230446 OGDH Nonsynonymous SNV S491R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 201971 chr10 103433380 103433380 G C rs368317323 FBXW4 Nonsynonymous SNV A49G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 201972 chr10 103789410 103789410 C T rs373110710 ARMH3 Synonymous SNV A133A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 201973 chr19 12910725 12910725 A C rs34012472 PRDX2 Nonsynonymous SNV D153E 0.001 0 0.01 0 1 0 0 3 0 0 0 0 1.163 201974 chr9 20933061 20933061 T C rs761543558 FOCAD Synonymous SNV D1122D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.683 201975 chr19 14048788 14048788 G A rs763349809 PODNL1 Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 201976 chr2 73718367 73718367 C T rs368970124 ALMS1 Nonsynonymous SNV S3093L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.4 201977 chr10 105967554 105967554 T C rs142762463 CFAP43 Nonsynonymous SNV H255R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.972 201978 chr22 31521553 31521553 G A INPP5J Synonymous SNV R276R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.791 201979 chr10 101421324 101421324 A G rs150267092 ENTPD7 Nonsynonymous SNV M44V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.846 201980 chr10 101716321 101716321 G A rs763328041 DNMBP Nonsynonymous SNV R304W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 201981 chr9 34242019 34242019 G A rs551328141 UBAP1 Nonsynonymous SNV M396I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 201982 chr2 96874096 96874096 T C rs201289448 STARD7 Nonsynonymous SNV Q26R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.4 201983 chr7 1023007 1023007 C T rs567230427 CYP2W1 Nonsynonymous SNV R54W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 201984 chr2 97427492 97427492 G C rs377727962 CNNM4 Synonymous SNV L252L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.219 201985 chr19 17104376 17104376 A G rs140705592 CPAMD8 Synonymous SNV D372D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.438 201986 chr7 102760551 102760551 T G rs746261765 NAPEPLD Nonsynonymous SNV E138D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 201987 chr9 36222902 36222902 G A GNE Nonsynonymous SNV T392I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 201988 chr10 1089324 1089324 T C rs758705449 IDI1 Nonsynonymous SNV H22R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 201989 chr7 65445257 65445257 G T GUSB Nonsynonymous SNV T117K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.009 201990 chr10 124457950 124457950 C G rs376347112 C10orf120 Nonsynonymous SNV E103Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 201991 chr7 116166588 116166588 T C rs867770703 CAV1 Nonsynonymous SNV Y14H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 201992 chr10 127520048 127520048 T C rs17153605 BCCIP Synonymous SNV C157C 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 6.119 201993 chr10 126515260 126515260 G A rs199972615 ABRAXAS2 Nonsynonymous SNV V122M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 201994 chr22 43625129 43625129 G A SCUBE1 Stop gain Q345X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 38 201995 chr3 112710048 112710048 C G rs150357969 GTPBP8 Nonsynonymous SNV L68V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.54 201996 chr7 81392140 81392140 G A rs150267054 HGF Nonsynonymous SNV A46V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 201997 chr10 129910034 129910034 T C rs771638025 MKI67 Nonsynonymous SNV N352S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 201998 chr10 134218285 134218285 C G PWWP2B Nonsynonymous SNV P94R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.69 201999 chr19 21991289 21991289 T C ZNF43 Nonsynonymous SNV K452R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 202000 chr10 134723432 134723432 G A rs972458625 CFAP46 Synonymous SNV T880T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.049 202001 chr3 118906791 118906791 T A rs149411356 UPK1B Nonsynonymous SNV I80N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 202002 chr9 91616138 91616138 G A rs150141136 S1PR3 Nonsynonymous SNV R8H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.842 202003 chr9 91940942 91940942 G A rs375580685 SECISBP2 Nonsynonymous SNV S187N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.232 202004 chr9 95228825 95228825 G A rs200280971 ASPN Nonsynonymous SNV T138M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 202005 chrX 100880638 100880638 T G rs782000125 ARMCX3 Synonymous SNV A223A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.471 202006 chr10 18823043 18823043 G T rs371232673 CACNB2 Nonsynonymous SNV A310S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.2 202007 chr3 123044289 123044289 G A rs138891983 ADCY5 Synonymous SNV I306I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.02 202008 chr19 35487192 35487192 A G GRAMD1A Nonsynonymous SNV D89G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 202009 chr10 19856510 19856510 G A rs200384748 MALRD1 Nonsynonymous SNV G1853D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.643 202010 chr10 19884316 19884316 G A rs766220622 MALRD1 Synonymous SNV E1958E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.118 202011 chrX 109694813 109694813 C T rs140162353 RTL9 Nonsynonymous SNV P323L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 202012 chr10 21463590 21463590 G C rs545894685 NEBL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.169 202013 chr10 21805472 21805480 TCCTCCTCT - rs765622967 SKIDA1 E426_E428del 0.001 0 0 0 1 0 0 0 0 0 0 0 202014 chr10 23729193 23729193 C A OTUD1 Synonymous SNV A269A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 202015 chr7 141537045 141537045 C T rs758971042 PRSS37 Nonsynonymous SNV R145Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 202016 chr10 27054166 27054166 C T rs144526855 ABI1 Synonymous SNV S203S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.52 202017 chr8 10467601 10467601 A T RP1L1 Nonsynonymous SNV V1336E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 202018 chrX 124028169 124028169 C T TENM1 Nonsynonymous SNV E171K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 202019 chr8 104898203 104898203 A G rs746871251 RIMS2 Nonsynonymous SNV H267R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.69 202020 chr10 29821788 29821788 G A rs143302930 SVIL Nonsynonymous SNV P503L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.595 202021 chr7 143096020 143096020 C T rs201581948 EPHA1 Nonsynonymous SNV R337Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.519 202022 chrX 131762400 131762400 G C rs921595519 HS6ST2 Nonsynonymous SNV L557V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 202023 chr7 143175841 143175841 C T rs202050176 TAS2R41 Synonymous SNV S292S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.088 202024 chrX 15607532 15607532 C T rs148771870 ACE2 Nonsynonymous SNV G211R 0 0.005 0 0 0 2 0 0 0 1 0 0 8.11 202025 chrX 21875648 21875648 A G rs149941101 YY2 Nonsynonymous SNV N349S 0 0.005 0.003 0 0 2 0 1 0 1 0 0 1.109 202026 chr7 1487401 1487401 A G rs202172410 MICALL2 Nonsynonymous SNV I112T 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 202027 chrX 147891441 147891441 G C AFF2 Nonsynonymous SNV L31F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 202028 chr7 149171766 149171766 G A rs371698372 ZNF746 Synonymous SNV T549T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.12 202029 chr10 46967388 46967388 C T rs782072009 LOC101927699 0 0 0.003 0 0 0 0 1 0 0 0 0 7.872 202030 chr19 38230134 38230134 G T rs375026878 ZNF573 Stop gain C331X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 202031 chrX 49142741 49142741 C T rs143845422 PPP1R3F Nonsynonymous SNV T184M 0 0.005 0 0 0 2 0 0 0 1 0 0 25.5 202032 chr10 49420078 49420078 T C rs190971610 FRMPD2 Synonymous SNV L485L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 202033 chr3 134226123 134226123 A C CEP63 Nonsynonymous SNV K73Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 202034 chr3 13525003 13525003 G A rs750192895 HDAC11 Nonsynonymous SNV R36Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 202035 chrX 73961591 73961591 T C rs41306133 NEXMIF Nonsynonymous SNV N934S 0 0.005 0.007 1 0 2 0.003 2 0 1 1 0 Benign 0.001 202036 chrX 74290245 74290245 A G rs45598734 ABCB7 Synonymous SNV D400D 0 0.005 0.007 1 0 2 0.003 2 0 1 1 0 Likely benign 3.528 202037 chr8 142367203 142367203 G A rs753556010 GPR20 Nonsynonymous SNV T274M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 202038 chr10 6008296 6008296 G A rs145592448 IL15RA Nonsynonymous SNV T32M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 202039 chr19 40964395 40964395 C T rs11547746 BLVRB Nonsynonymous SNV R46Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.38 202040 chrX 132161741 132161741 C T rs760869112 USP26 Nonsynonymous SNV G170R 0.002 0.005 0 0 2 2 0 0 1 1 0 0 0.426 202041 chrX 41555253 41555253 G A GPR34 Nonsynonymous SNV G123S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 202042 chr10 61831400 61831400 A G ANK3 Nonsynonymous SNV L3080P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 202043 chrX 53111758 53111758 - CCGCCGCCG rs781884842 TSPYL2 P33_L34insPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 202044 chr10 71255399 71255401 ATG - TSPAN15 D51del 0 0 0.003 0 0 0 0 1 0 0 0 0 202045 chrX 53588798 53588798 C T HUWE1 Nonsynonymous SNV A2476T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 202046 chr7 21784609 21784609 A C DNAH11 Nonsynonymous SNV E2813A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 202047 chrX 54949985 54949985 G A TRO Synonymous SNV G340G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.21 202048 chr10 72014846 72014846 G A rs189393456 NPFFR1 Nonsynonymous SNV S387L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 202049 chr3 155271875 155271875 C T rs142571421 PLCH1 Nonsynonymous SNV V382M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 202050 chrX 57458438 57458438 G A rs138462668 FAAH2 Nonsynonymous SNV A292T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.094 202051 chrX 65244948 65244948 T C VSIG4 Nonsynonymous SNV I193V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 202052 chr3 157188223 157188223 A G rs762466921 VEPH1 Synonymous SNV H78H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.559 202053 chr7 24705275 24705275 G A rs34514212 MPP6 Synonymous SNV K284K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.53 202054 chr7 24905770 24905770 T G rs113523364 OSBPL3 Synonymous SNV P156P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 8.903 202055 chrY 22918699 22918699 A G rs375056491 RPS4Y2 Synonymous SNV A13A 0.002 0.01 0.014 0 2 4 0 4 1 2 2 0 9.581 202056 chrX 77913570 77913570 C T rs139493021 RTL3 Synonymous SNV A116A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.68 202057 chr3 167322233 167322233 C A rs140603491 WDR49 Nonsynonymous SNV A328S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.49 202058 chr10 50873014 50873014 T C rs767664583 CHAT Synonymous SNV S605S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.918 202059 chrX 80370567 80370567 C T rs1035375036 HMGN5 Nonsynonymous SNV A144T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.314 202060 chr19 44611262 44611262 C T rs761291888 ZNF224 Stop gain R317X 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 202061 chr10 73591663 73591663 G A rs111369573 PSAP Synonymous SNV C63C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.669 202062 chr10 85967974 85967974 C A rs547534493 CDHR1 Synonymous SNV T336T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 202063 chr7 36374786 36374786 A G rs757829275 KIAA0895 Nonsynonymous SNV I277T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 202064 chr3 180334332 180334332 C T rs147183244 CCDC39 Nonsynonymous SNV R853H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 11.68 202065 chr10 103919310 103919310 A G NOLC1 Nonsynonymous SNV M292V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 202066 chr10 104119155 104119155 C G GBF1 Synonymous SNV P381P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 202067 chr19 46815485 46815485 G A rs780058400 HIF3A Nonsynonymous SNV A211T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 202068 chr10 7839139 7839139 T C rs774601572 ATP5F1C Nonsynonymous SNV L27S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.769 202069 chr10 105138041 105138041 T A rs149227762 TAF5 Nonsynonymous SNV S283T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 202070 chr19 47230734 47230734 G T STRN4 Nonsynonymous SNV T415N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 202071 chr7 44715767 44715767 C A rs202133522 OGDH Nonsynonymous SNV R409S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.15 202072 chr19 47597739 47597739 C T rs200720088 ZC3H4 Synonymous SNV E96E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.09 202073 chr3 184295757 184295757 G A rs147361564 EPHB3 Nonsynonymous SNV V571M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 18.17 202074 chr3 184428800 184428800 T C rs34792132 MAGEF1 Synonymous SNV P270P 0.003 0.003 0.007 4 3 1 0.01 2 0 0 0 0 1.964 202075 chr8 17824678 17824678 A T rs1044954325 PCM1 Synonymous SNV P1137P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 202076 chr10 98820427 98820427 G A SLIT1 Nonsynonymous SNV P304L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 202077 chr7 48375039 48375039 T A ABCA13 Synonymous SNV I3340I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 202078 chr7 4950781 4950781 A G MMD2 Synonymous SNV H154H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 202079 chr19 49920705 49920705 C T rs762561630 CCDC155 Nonsynonymous SNV P543S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 202080 chr19 50358279 50358279 C T PTOV1 Nonsynonymous SNV T168I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 202081 chr11 1017543 1017543 G A rs779971238 MUC6 Nonsynonymous SNV T1753I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.628 202082 chr8 25341627 25341627 - A rs774529618 CDCA2 Frameshift insertion D410Rfs*11 0.003 0.005 0 0 3 2 0 0 0 0 0 0 202083 chr11 1017883 1017883 C T rs79644784 MUC6 Nonsynonymous SNV A1640T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.013 202084 chr3 196022930 196022930 G A rs142927338 TCTEX1D2 Nonsynonymous SNV R110C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 34 202085 chr10 123845666 123845666 A G TACC2 Synonymous SNV P1217P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.303 202086 chr19 51228403 51228403 C T CLEC11A Synonymous SNV R217R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 202087 chr3 196674970 196674970 G A rs61729252 PIGZ Synonymous SNV A266A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.051 202088 chr7 73520469 73520469 C G rs114211869 LIMK1 Nonsynonymous SNV H225Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.512 202089 chr3 196736546 196736546 C T rs138051810 MELTF Nonsynonymous SNV V490M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 202090 chr3 196746595 196746595 T C rs11928299 MELTF Nonsynonymous SNV R264G 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 3.708 202091 chr7 74489507 74489507 G T rs181724464 RCC1L Synonymous SNV R23R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.722 202092 chr3 196753556 196753556 C T rs138189044 MELTF Synonymous SNV P93P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.69 202093 chr7 75932045 75932045 G A rs1049324 HSPB1 Nonsynonymous SNV V6I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.94 202094 chr7 76909816 76909816 C T rs751587535 CCDC146 Nonsynonymous SNV R589C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.9 202095 chr7 77558616 77558616 A G PHTF2 Nonsynonymous SNV K399R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 202096 chr11 110036084 110036084 C T ZC3H12C Synonymous SNV D758D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 202097 chr8 41581991 41581991 C T rs201000616 ANK1 Nonsynonymous SNV V232I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 202098 chr19 52618240 52618240 A G ZNF616 Nonsynonymous SNV F726S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 202099 chr8 54792161 54792161 C G RGS20 Nonsynonymous SNV P170R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 202100 chr7 88963598 88963598 T C rs775390686 ZNF804B Synonymous SNV H434H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 202101 chr19 54577355 54577355 C T rs773414585 TARM1 Nonsynonymous SNV A159T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 202102 chr1 23885750 23885750 G A rs150987910 ID3 Synonymous SNV P56P 0.005 0 0 0 6 0 0 0 0 0 0 0 11.15 202103 chr8 80831329 80831329 C T rs149958047 MRPS28 Synonymous SNV T150T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.34 202104 chr19 54933492 54933492 G A rs761900125 TTYH1 Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 202105 chr11 104912360 104912360 G A rs150112763 CARD16 Stop gain Q121X 0.002 0 0 0 2 0 0 0 0 0 0 0 33 202106 chr8 95178193 95178193 C T rs774993814 CDH17 Nonsynonymous SNV G360R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 202107 chr8 95448739 95448739 T C FSBP Nonsynonymous SNV R120G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 202108 chr1 27087352 27087352 A G rs765957486 ARID1A Synonymous SNV L642L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.611 202109 chr1 27101396 27101396 C G rs772532872 ARID1A Nonsynonymous SNV P1560A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 202110 chr9 100919905 100919905 C T rs143420950 CORO2A Nonsynonymous SNV R13H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 202111 chr8 113293509 113293509 A G rs776584715 CSMD3 Synonymous SNV S2934S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 202112 chr9 100973036 100973036 G C rs61756693 TBC1D2 Synonymous SNV A65A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.626 202113 chr1 32049135 32049135 A G rs761388878 TINAGL1 Nonsynonymous SNV I150V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.31 202114 chr3 48627937 48627937 C T rs143391124 COL7A1 Nonsynonymous SNV V621I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 202115 chr1 33745939 33745939 C G ZNF362 Synonymous SNV P188P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.159 202116 chr1 33772555 33772555 C T rs372267904 A3GALT2 Nonsynonymous SNV D279N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 202117 chr9 109688464 109688464 C G rs34808503 ZNF462 Synonymous SNV A757A 0.005 0 0 0 6 0 0 0 0 0 0 0 8.772 202118 chr8 124664086 124664086 T A rs757444586 KLHL38 Nonsynonymous SNV N361Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 202119 chr1 33841126 33841126 C A PHC2 Synonymous SNV L5L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.31 202120 chr8 124664357 124664357 G T KLHL38 Stop gain C270X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 202121 chr3 50402841 50402841 A T rs190120215 CACNA2D2 Nonsynonymous SNV F1015Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27 202122 chr11 126968452 126968452 A G LOC101929473 0 0 0.003 0 0 0 0 1 0 0 0 0 0.519 202123 chr9 112003988 112003988 C T rs948647569 EPB41L4B Nonsynonymous SNV G504E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.6 202124 chr19 56436367 56436367 G A rs141297690 NLRP13 Synonymous SNV T118T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.328 202125 chr9 112207536 112207536 C T rs150667989 PTPN3 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 202126 chr8 12594567 12594567 G T LONRF1 Nonsynonymous SNV T399K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.435 202127 chr3 52404770 52404770 G T rs375219203 DNAH1 Nonsynonymous SNV D2152Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 34 202128 chr9 113197636 113197636 T G rs139569556 SVEP1 Synonymous SNV S1591S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.752 202129 chr9 113341764 113341764 G A rs10980461 SVEP1 Synonymous SNV T20T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 11.5 202130 chr11 1084280 1084280 C T rs61732127 MUC2 Synonymous SNV D804D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.304 202131 chr11 117186351 117186351 G A BACE1 Nonsynonymous SNV P54L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 202132 chr9 114172366 114172366 T C rs148704175 ECPAS Synonymous SNV V835V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.246 202133 chr11 118240213 118240213 A G rs202210664 UBE4A Nonsynonymous SNV E124G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 202134 chr11 11348660 11348660 C G rs144034068 GALNT18 Nonsynonymous SNV M433I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 202135 chr9 116810943 116810943 G T rs190597134 ZNF618 Nonsynonymous SNV G421V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 202136 chr11 1586885 1586885 G T rs776436007 DUSP8 Synonymous SNV R58R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.44 202137 chr3 64084776 64084776 T C PRICKLE2 Nonsynonymous SNV Q829R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.46 202138 chr12 56351197 56351197 G T rs141332969 PMEL Nonsynonymous SNV P211H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 202139 chr3 73618389 73618389 G C rs78584400 LOC101927296 0 0 0 1 0 0 0.003 0 0 0 0 0 0.165 202140 chr12 6499435 6499435 A G rs370657088 LTBR Nonsynonymous SNV Q301R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 4.887 202141 chr10 61941122 61941122 C T rs369486517 ANK3 Nonsynonymous SNV V700I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 202142 chr11 124757679 124757679 C T rs4408324 ROBO4 Nonsynonymous SNV R524Q 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 Benign 18.4 202143 chr11 124761456 124761456 G A rs59946255 ROBO4 Nonsynonymous SNV L418F 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 24.8 202144 chr11 124764988 124764988 G A rs77066875 ROBO4 Nonsynonymous SNV R235C 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign 35 202145 chr11 124765432 124765432 G A rs75488833 ROBO4 Synonymous SNV Y174Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 11.02 202146 chr11 124951719 124951719 G A rs34485243 SLC37A2 Nonsynonymous SNV G268S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.003 202147 chr8 145059809 145059809 A G rs782065441 PARP10 Synonymous SNV R160R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 202148 chr20 3677984 3677984 C A SIGLEC1 Nonsynonymous SNV V710F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 202149 chr20 3687223 3687223 G C rs757590792 SIGLEC1 Stop gain Y60X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 202150 chr20 3687316 3687316 C A rs150623674 SIGLEC1 Synonymous SNV V29V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.854 202151 chr4 113199336 113199336 G A rs774858038 TIFA Synonymous SNV N79N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.252 202152 chr9 134022962 134022962 C T rs758868367 NUP214 Synonymous SNV G667G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.769 202153 chr4 114274230 114274230 G C rs149678604 ANK2 Nonsynonymous SNV V1486L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.67 202154 chr10 73533124 73533124 C T rs146887444 VSIR Nonsynonymous SNV A25T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23 202155 chr11 4510500 4510500 C T rs200982565 OR52K1 Nonsynonymous SNV R124C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 202156 chr11 45277276 45277276 G A rs756301285 SYT13 Nonsynonymous SNV P117L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.395 202157 chr9 135978225 135978225 C T rs143850838 RALGDS Synonymous SNV A563A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 202158 chr4 123747942 123747942 G A rs308400 FGF2 Synonymous SNV V4V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 202159 chr11 47290222 47290222 C G rs149895806 NR1H3 Nonsynonymous SNV S335C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 202160 chr11 48166637 48166637 A G PTPRJ Nonsynonymous SNV S958G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 202161 chr1 85930469 85930469 G A rs139393958 DDAH1 Nonsynonymous SNV T87M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 34 202162 chr11 198473 198473 C G ODF3 Nonsynonymous SNV A141G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 202163 chr9 139412217 139412217 G A rs780017929 NOTCH1 Synonymous SNV C476C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.691 202164 chr20 25187815 25187815 T C rs201392452 ENTPD6 Nonsynonymous SNV V36A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 202165 chr10 94834563 94834563 G A CYP26A1 Nonsynonymous SNV A148T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 28.1 202166 chr20 29993906 29993906 A T rs149744379 DEFB121 Nonsynonymous SNV V17D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 202167 chr8 24813391 24813391 G C rs62636522 NEFL Nonsynonymous SNV I213M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.43 202168 chr20 30610595 30610595 C T rs770540314 CCM2L Nonsynonymous SNV R356C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 202169 chr9 140063402 140063402 G T LRRC26 Synonymous SNV R303R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.177 202170 chr8 27398092 27398092 C T rs148997097 EPHX2 Nonsynonymous SNV P367L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 202171 chr8 27461825 27461825 C T rs372063497 CLU Nonsynonymous SNV R306Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 202172 chr9 140611355 140611355 C T rs144352877 EHMT1 Synonymous SNV G90G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.655 202173 chr11 31327200 31327200 G A rs140758606 DCDC1 Nonsynonymous SNV T239M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 202174 chr9 15489991 15489991 C G rs202096899 PSIP1 Nonsynonymous SNV S94T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 202175 chr20 40043858 40043858 A G rs758489817 CHD6 Synonymous SNV L2303L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.549 202176 chr11 550088 550090 ACA - rs752863572 LRRC56 N149del 0 0 0.003 0 0 0 0 1 0 0 0 0 202177 chr8 41529994 41529994 G A rs149859024 ANK1 Synonymous SNV D1658D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.551 202178 chr11 5536501 5536501 G T rs149141668 UBQLNL Nonsynonymous SNV Q391K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 202179 chr11 33308234 33308234 A G HIPK3 Nonsynonymous SNV T92A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 2.465 202180 chr11 33370363 33370363 G C rs373619155 HIPK3 Nonsynonymous SNV E868Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 202181 chr9 34622036 34622036 G C rs760156708 ARID3C Nonsynonymous SNV I373M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 202182 chr8 623434 623434 C G rs377144371 ERICH1 Synonymous SNV P306P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.563 202183 chr20 45212287 45212287 G A rs140812730 SLC13A3 Synonymous SNV T331T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 202184 chr20 45354440 45354440 C T rs142106322 SLC2A10 Synonymous SNV S255S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.87 202185 chr13 39263953 39263953 C T rs114831647 FREM2 Synonymous SNV P824P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.54 202186 chr4 185309927 185309927 G A rs150796036 IRF2 Synonymous SNV R345R 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 11.29 202187 chr13 40233602 40233602 C T COG6 Synonymous SNV A85A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.3 202188 chr11 102323326 102323326 G T rs778092007 TMEM123 Nonsynonymous SNV A10D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 202189 chr11 47295511 47295511 G T rs773860940 MADD Nonsynonymous SNV V16L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 202190 chr11 47306665 47306665 T C rs938438431 MADD Synonymous SNV Y777Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.459 202191 chr11 47591402 47591402 C T rs779209792 PTPMT1 Nonsynonymous SNV R136C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 202192 chr13 76381790 76381790 - TT LMO7 Frameshift insertion L131Ffs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 202193 chr8 95780656 95780656 A G rs138998679 DPY19L4 Synonymous SNV E403E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.723 202194 chr20 60922037 60922037 C T rs570693723 LAMA5 Nonsynonymous SNV R335H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 202195 chr20 60969292 60969292 C T CABLES2 Nonsynonymous SNV R212K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 202196 chr20 61288085 61288085 G A rs141017928 SLCO4A1 Synonymous SNV P93P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.032 202197 chr4 3319255 3319255 G T rs151194139 RGS12 Nonsynonymous SNV G453V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.9 202198 chr9 101980458 101980458 T C ALG2 Nonsynonymous SNV M337V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.372 202199 chr1 153750268 153750268 G A rs147193266 SLC27A3 Synonymous SNV S356S 0.003 0 0 0 4 0 0 0 0 0 0 0 13.25 202200 chr1 153752449 153752449 G A rs35517522 SLC27A3 Nonsynonymous SNV A640T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.8 202201 chr9 97869518 97869518 C A rs730881724 FANCC Nonsynonymous SNV A455S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.885 202202 chr20 62196758 62196758 G A rs777817651 HELZ2 Synonymous SNV F570F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.109 202203 chr20 62221603 62221603 G A GMEB2 Nonsynonymous SNV L478F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 202204 chrX 100749226 100749226 G A ARMCX4 Nonsynonymous SNV E1884K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 1 22.5 202205 chr11 60885754 60885754 T G rs562627397 CD5 Nonsynonymous SNV S11A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 202206 chr4 47458709 47458709 T G COMMD8 Nonsynonymous SNV Q87P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 202207 chr11 6220708 6220708 G T OR52W1 Synonymous SNV G85G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 202208 chr9 116835211 116835211 C T AMBP Nonsynonymous SNV D184N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 202209 chr11 122775122 122775122 - A rs974240509 JHY Frameshift insertion R281Kfs*35 0.002 0 0 1 2 0 0.003 0 0 0 0 0 202210 chr11 62948230 62948230 C A rs770061534 SLC22A25 Nonsynonymous SNV M324I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 202211 chr11 123477383 123477383 A G rs191981781 GRAMD1B Nonsynonymous SNV I281V 0.003 0 0.01 0 3 0 0 3 0 0 0 0 10.8 202212 chr9 116999992 116999992 C T rs142957409 COL27A1 Synonymous SNV P908P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21.1 202213 chr11 63072322 63072322 A G rs776186272 SLC22A10 Nonsynonymous SNV N520S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.84 202214 chr4 56819434 56819434 C T rs115408010 CEP135 Synonymous SNV H99H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 8.326 202215 chr21 34136681 34136681 A T rs755307487 PAXBP1 Synonymous SNV S209S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.563 202216 chr21 35469094 35469094 A T SLC5A3 Nonsynonymous SNV T533S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 202217 chr11 64496387 64496387 G C RASGRP2 Synonymous SNV R573R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 202218 chr1 159170777 159170777 C G rs147017047 CADM3-AS1 0.003 0.003 0 0 3 1 0 0 1 0 0 0 11.79 202219 chr21 40177364 40177364 G A rs759587615 ETS2 Nonsynonymous SNV G32S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.014 202220 chr4 6302989 6302989 C G rs768029820 WFS1 Nonsynonymous SNV I489M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.956 202221 chr1 160141491 160141491 C T rs142338502 ATP1A4 Nonsynonymous SNV P600S 0.003 0 0 0 3 0 0 0 0 0 0 0 31 202222 chrX 154158723 154158723 C T rs200593763 F8 Synonymous SNV S1114S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 202223 chr21 43222949 43222949 C T rs367789493 PRDM15 Nonsynonymous SNV E993K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 202224 chr9 130928502 130928502 G A CIZ1 Nonsynonymous SNV R790W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 202225 chr11 5631776 5631776 G T rs146093933 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV V121F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 202226 chr21 45523214 45523214 C T rs750162907 TRAPPC10 Synonymous SNV H727H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.689 202227 chr11 66807598 66807598 G A rs151264051 SYT12 Nonsynonymous SNV R67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 202228 chr9 131857727 131857727 C T rs1012240026 CRAT Synonymous SNV A610A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.85 202229 chr9 13205962 13205962 A T MPDZ Nonsynonymous SNV V476D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.005 202230 chr21 46326831 46326831 T C rs199932521 ITGB2 Synonymous SNV P109P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.52 202231 chr22 18347431 18347431 C T rs370912755 MICAL3 Nonsynonymous SNV V1071M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.08 202232 chr10 102256970 102256970 A G rs573603517 SEC31B Synonymous SNV Y686Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.194 202233 chr4 95239083 95239083 A G rs748090845 HPGDS Nonsynonymous SNV V56A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 202234 chr1 197093441 197093441 T C rs146858888 ASPM Synonymous SNV L1063L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.273 202235 chr4 96036836 96036836 G A rs369807264 BMPR1B Nonsynonymous SNV D83N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 202236 chr22 21304010 21304010 C T rs779069642 CRKL Synonymous SNV I263I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.12 202237 chr22 21354703 21354703 C G rs780457392 THAP7 Synonymous SNV G132G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.768 202238 chr1 200978496 200978496 G A rs139306112 KIF21B Synonymous SNV F54F 0.001 0 0 0 1 0 0 0 0 0 0 0 14 202239 chr11 33564171 33564171 G A rs58783133 KIAA1549L Synonymous SNV P354P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 6.358 202240 chr11 33565134 33565134 C T rs78046896 KIAA1549L Synonymous SNV S675S 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 6.279 202241 chr11 33689529 33689529 G A rs61741852 KIAA1549L Synonymous SNV L2090L 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Benign 8.548 202242 chr10 106139792 106139792 G A CFAP58 Nonsynonymous SNV M393I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.94 202243 chr10 1130406 1130406 G A rs745509111 WDR37 Nonsynonymous SNV G154S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 202244 chr5 111506045 111506045 G A rs372402050 EPB41L4A Synonymous SNV S564S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.19 202245 chr22 25282600 25282600 T A SGSM1 Nonsynonymous SNV Y559N 0.001 0 0 0 1 0 0 0 0 0 0 0 28 202246 chr9 140108261 140108261 G A rs139188702 NDOR1 Nonsynonymous SNV R114Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 202247 chr11 6024212 6024212 G C rs768310858 OR56A4 Nonsynonymous SNV P4R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.144 202248 chr11 45967443 45967443 G A rs371948562 PHF21A Nonsynonymous SNV T466I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 202249 chr22 29706918 29706918 C T rs371349829 GAS2L1 Nonsynonymous SNV R314W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 202250 chr1 206666625 206666625 C T rs142331757 IKBKE Synonymous SNV L568L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.71 202251 chr22 30688818 30688818 T C TBC1D10A Nonsynonymous SNV E365G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 202252 chr22 30772477 30772524 CAGCCCTGCACATCCCCACCTCGGCAGCCCTGCACATCCCCACCTCGG - rs747535463 CCDC157 P682_P697del 0.001 0 0 0 1 0 0 0 0 0 0 0 202253 chr11 60901583 60901583 G T rs139187594 VPS37C Nonsynonymous SNV R64S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 202254 chr22 31010462 31010462 C T rs146009793 TCN2 Nonsynonymous SNV P185L 0.001 0.003 0 5 1 1 0.013 0 0 0 0 0 Likely benign 11.89 202255 chr11 61249346 61249346 C T rs145779108 PPP1R32 Nonsynonymous SNV T22M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 202256 chr10 125528239 125528239 C A CPXM2 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 202257 chr7 64853753 64853753 G T ZNF92 Nonsynonymous SNV W55C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.025 202258 chr12 104046477 104046477 C T rs73187902 STAB2 Synonymous SNV S467S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 202259 chr12 104102281 104102281 G A STAB2 Nonsynonymous SNV D1419N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 202260 chr11 64815211 64815211 C T NAALADL1 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 202261 chr5 139820625 139820625 G A rs762300623 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV G271R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 202262 chr9 35103058 35103058 G A STOML2 Nonsynonymous SNV L12F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 202263 chr9 35809385 35809385 A C rs138254005 NPR2 Synonymous SNV G1029G 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Uncertain significance 1.153 202264 chr10 134664755 134664755 G A rs150206082 CFAP46 Nonsynonymous SNV L1877F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 202265 chr11 67817647 67817647 T A rs150260808 TCIRG1 Nonsynonymous SNV I505N 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 32 202266 chr1 228346652 228346652 C T rs140942230 GJC2 Nonsynonymous SNV T398I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.19 202267 chr5 140800889 140800889 - C rs761059925 PCDHGA11 Frameshift insertion R33Pfs*66 0 0 0 1 0 0 0.003 0 0 0 0 0 202268 chr11 6503346 6503346 G A rs148807917 TIMM10B Synonymous SNV Q69Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.402 202269 chr5 145393494 145393494 G A rs148825622 SH3RF2 Nonsynonymous SNV R310Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 202270 chr12 121416797 121416797 G A HNF1A Nonsynonymous SNV D76N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 202271 chr5 146785247 146785247 G C rs1009286976 DPYSL3 Nonsynonymous SNV T360S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 202272 chr22 44892734 44892734 G C rs940661178 RTL6 Nonsynonymous SNV R235G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 202273 chr12 121877675 121877675 C T KDM2B Nonsynonymous SNV E1203K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 202274 chr1 234563324 234563324 T G rs932570984 TARBP1 Nonsynonymous SNV Q1083H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 202275 chr22 45719136 45719136 C T rs750336393 FAM118A Nonsynonymous SNV A43V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 202276 chr11 5510583 5510583 T G OR52D1 Nonsynonymous SNV L216R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 202277 chr9 90501280 90501280 G A rs61580688 SPATA31E1 Synonymous SNV E626E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.49 202278 chr12 122692979 122692979 T G DIABLO Nonsynonymous SNV E126D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.558 202279 chr12 123794063 123794063 T C rs765901124 SBNO1 Synonymous SNV S1170S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.48 202280 chr5 149323938 149323938 C A PDE6A Nonsynonymous SNV R100L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 202281 chr22 45937198 45937198 G A rs766511464 FBLN1 Nonsynonymous SNV V338M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 202282 chr5 149323950 149323950 A T PDE6A Nonsynonymous SNV L96Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 202283 chr5 149323964 149323964 T C PDE6A Synonymous SNV A91A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.257 202284 chr12 126932564 126932564 G A rs6489085 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 1.294 202285 chr12 126942598 126942598 C T rs7967773 LINC02347 0 0 0.014 0 0 0 0 4 0 0 0 0 2.855 202286 chr12 126942675 126942675 G A rs7967011 LINC02347 0 0 0.007 0 0 0 0 2 0 0 0 0 4.39 202287 chr9 96289499 96289499 G A rs968587151 FAM120A Nonsynonymous SNV R493Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 202288 chr9 990712 990712 T C rs34961221 DMRT3 Synonymous SNV L376L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.065 202289 chrX 107826157 107826157 A G COL4A5 Nonsynonymous SNV D327G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.69 202290 chrX 114425967 114425967 G A rs200037364 RBMXL3 Nonsynonymous SNV D655N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 202291 chr12 2039332 2039332 G C rs112040856 LINC00940 0 0 0.007 0 0 0 0 2 0 0 0 0 0.504 202292 chr5 161529612 161529612 C G rs191391831 GABRG2 Nonsynonymous SNV H228Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.559 202293 chr11 85692249 85692249 C T rs369070232 PICALM Nonsynonymous SNV G518S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 202294 chrX 123838998 123838998 G C rs138121113 TENM1 Nonsynonymous SNV P294A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 202295 chrX 128884450 128884450 C T rs138365897 XPNPEP2 Nonsynonymous SNV T215I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 202296 chrX 129148194 129148194 G A rs112032085 BCORL1 Synonymous SNV P482P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 4.772 202297 chr12 2786373 2786373 G A rs370432385 CACNA1C Nonsynonymous SNV A1656T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 15.65 202298 chr12 27933698 27933698 G T KLHL42 Synonymous SNV L145L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 202299 chr12 29911669 29911669 C T TMTC1 Synonymous SNV L174L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 202300 chrX 152482162 152482162 C A rs782214863 MAGEA1 Synonymous SNV V283V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.857 202301 chr12 47472683 47472683 G C rs771356711 AMIGO2 Nonsynonymous SNV P35A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 202302 chr12 48151789 48151789 G A rs199576694 RAPGEF3 Nonsynonymous SNV R27W 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 202303 chr12 48367873 48367873 G A rs121912886 COL2A1 Nonsynonymous SNV T1370M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 202304 chrX 153697521 153697521 G A rs371806256 PLXNA3 Synonymous SNV P1519P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.478 202305 chr11 85435718 85435718 C A rs148987893 SYTL2 Nonsynonymous SNV E1561D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 202306 chrX 68725472 68725472 C T rs199924940 FAM155B Nonsynonymous SNV P116L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.347 202307 chrX 69176938 69176938 G A rs140642493 EDA Nonsynonymous SNV R153H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.88 202308 chr15 68605114 68605114 G A rs138297691 ITGA11 Synonymous SNV F990F 0.004 0.005 0.003 2 5 2 0.005 1 0 0 0 0 7.154 202309 chrX 71351245 71351245 T C rs778203422 RTL5 Nonsynonymous SNV N49S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.466 202310 chr15 68631868 68631868 C T rs201105280 ITGA11 Nonsynonymous SNV E416K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 26.4 202311 chr15 69011083 69011083 C T CORO2B Synonymous SNV F333F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.43 202312 chrX 30873139 30873139 T C TAB3 Nonsynonymous SNV I215V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 202313 chr2 25065209 25065209 C T ADCY3 Synonymous SNV E290E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.73 202314 chr5 32089642 32089642 C T rs768241615 PDZD2 Nonsynonymous SNV R2030C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.6 202315 chrX 83581264 83581264 C T rs143487849 HDX Synonymous SNV K565K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.64 202316 chr5 32588619 32588619 A T SUB1 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 202317 chr2 26418097 26418097 A G HADHA Nonsynonymous SNV I495T 0.004 0 0 0 5 0 0 0 0 0 0 0 29.5 202318 chrX 99840291 99840291 A G rs141371868 TNMD Nonsynonymous SNV I38V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.063 202319 chr12 109017025 109017025 G A rs371647258 SELPLG Synonymous SNV P369P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 202320 chr11 56510947 56510947 G A rs147936706 OR9G4 Nonsynonymous SNV A114V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 202321 chrX 107850089 107850089 C T rs762935451 COL4A5 Nonsynonymous SNV R788C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.1 202322 chr11 57102026 57102026 C T SSRP1 Nonsynonymous SNV G51S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 202323 chr12 52992684 52992684 C T rs201576778 KRT72 Synonymous SNV K213K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 202324 chr5 41850216 41850216 C A rs78432029 OXCT1 Synonymous SNV G160G 0.004 0 0 3 5 0 0.008 0 0 0 0 0 Benign 18.23 202325 chrX 123197784 123197784 C T STAG2 Synonymous SNV Y636Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 202326 chrX 125685203 125685203 G A rs745395236 DCAF12L1 Synonymous SNV S463S 0.001 0 0 2 1 0 0.005 0 0 0 0 1 8.314 202327 chrX 128948644 128948644 A G rs748313244 ZDHHC9 Synonymous SNV Y205Y 0.003 0 0 0 3 0 0 0 1 0 0 0 0.02 202328 chrX 129264106 129264106 C T rs761765345 AIFM1 Nonsynonymous SNV E198K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.24 202329 chr5 50685756 50685756 A G rs121912286 ISL1 Nonsynonymous SNV N252S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.677 202330 chr11 58275267 58275267 C A OR5B21 Synonymous SNV G104G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 202331 chrX 136113807 136113807 C T rs776092295 GPR101 Synonymous SNV T9T 0.003 0 0 0 3 0 0 0 1 0 0 0 12.76 202332 chrX 137793091 137793091 G A rs138433794 FGF13 Synonymous SNV C25C 0.003 0 0 0 3 0 0 0 1 0 0 0 22.6 202333 chr12 104350470 104350470 G A C12orf73 Nonsynonymous SNV A16V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 202334 chr12 118506327 118506327 - TCC rs538647696 VSIG10 E474_D475insE 0.001 0 0 0 1 0 0 0 0 0 0 0 202335 chr12 119772991 119772991 G C rs144785025 CCDC60 Nonsynonymous SNV V4L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 202336 chrX 150840948 150840948 C T PASD1 Synonymous SNV I577I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 202337 chr12 120652658 120652658 G A rs25662 PXN Synonymous SNV R430R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.78 202338 chr12 121613268 121613268 T C rs73403850 P2RX7 Nonsynonymous SNV L320P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.8 202339 chr5 65321784 65321784 C T rs146856556 ERBIN Synonymous SNV Y333Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.206 202340 chrX 153135289 153135289 G A rs782563773 L1CAM Synonymous SNV V359V 0.001 0.005 0 0 1 2 0 0 0 1 0 0 10.35 202341 chrX 153594455 153594455 C T rs782495199 FLNA Nonsynonymous SNV V456M 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Uncertain significance 24.9 202342 chr10 96997868 96997868 - ACAATCCCAGTGCCACATTTGTCACACATAGGCAACTTCTGAGCATTTC PDLIM1 Stop gain G269Kfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 202343 chr12 57994679 57994679 C G rs2277319 PIP4K2C Nonsynonymous SNV A252G 0.006 0.008 0.01 5 7 3 0.013 3 0 0 0 0 12.29 202344 chr12 58017860 58017860 G A rs113207856 SLC26A10 Stop gain W402X 0.005 0.008 0.01 3 6 3 0.008 3 0 0 0 0 39 202345 chr5 71495794 71495794 C T rs574061088 MAP1B Synonymous SNV P2078P 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 12.4 202346 chr1 898580 898580 C T KLHL17 Synonymous SNV R378R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.337 202347 chr10 99225613 99225613 C T rs529472035 MMS19 Nonsynonymous SNV V471I 0.004 0 0 0 5 0 0 0 0 0 0 0 25.1 202348 chr2 65296629 65296649 GGCCCAGTCCTATGGGAGAGG - rs780498389 CEP68 A18_G24del 0.002 0 0 0 2 0 0 0 0 0 0 0 202349 chr12 122658409 122658409 C T rs141921768 IL31 Synonymous SNV S49S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.769 202350 chr12 123465695 123465695 C G rs200424213 ARL6IP4 Nonsynonymous SNV H187Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 202351 chr12 123471959 123471959 G A rs143781726 PITPNM2 Synonymous SNV A1088A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.016 202352 chr11 62284915 62284915 G A rs139145890 AHNAK Synonymous SNV F5658F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.649 202353 chr11 62378431 62378431 G T rs150221182 EML3 Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.724 202354 chr12 124221796 124221796 G A rs74922060 ATP6V0A2 Nonsynonymous SNV R339H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 25.3 202355 chr12 124228414 124228414 A G rs79134187 ATP6V0A2 Nonsynonymous SNV K374R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 12.07 202356 chr10 115375485 115375485 T C rs34523503 NRAP Nonsynonymous SNV M986V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.09 202357 chr12 124356150 124356150 G A DNAH10 0.002 0 0 0 2 0 0 0 0 0 0 0 24 202358 chr10 115535561 115535561 G A rs34024791 PLEKHS1 Nonsynonymous SNV V241I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 202359 chr10 116044725 116044725 C T rs11817946 VWA2 Synonymous SNV N331N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.98 202360 chr10 116045756 116045756 G A rs34806476 VWA2 Synonymous SNV A352A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.85 202361 chr10 116046186 116046186 C T rs62640959 VWA2 Nonsynonymous SNV H496Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.2 202362 chr1 2113388 2113400 CCTCCCTCCGGCT - PRKCZ-AS1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 202363 chr12 753274 753274 G T rs141966105 LOC100049716 0 0 0.003 0 0 0 0 1 0 0 0 0 4.334 202364 chr12 130912850 130912850 T C rs773610967 RIMBP2 Synonymous SNV T745T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.222 202365 chr12 120966923 120966923 C T rs768491516 COQ5 Nonsynonymous SNV A8T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 202366 chr12 121756363 121756363 C T rs751854391 ANAPC5 Synonymous SNV K450K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 202367 chr5 82407014 82407014 G A rs144653114 XRCC4 Nonsynonymous SNV D103N 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 24.5 202368 chr1 6185192 6185192 C T rs145328843 CHD5 Synonymous SNV R1454R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.05 202369 chr12 86268215 86268215 - T rs772374810 NTS Frameshift insertion M12Ifs*36 0 0 0.003 0 0 0 0 1 0 0 0 0 202370 chr11 64897751 64897751 C A SYVN1 Nonsynonymous SNV E402D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 202371 chr12 125294827 125294827 G A SCARB1 Synonymous SNV F245F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 202372 chr12 22089557 22089557 C T ABCC9 Nonsynonymous SNV G18S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.82 202373 chr1 12202412 12202412 C T rs762077927 TNFRSF8 Nonsynonymous SNV R426W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 202374 chr11 67191945 67191945 A G CARNS1 Nonsynonymous SNV Y786C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 202375 chr12 133349773 133349773 G A rs553555087 GOLGA3 Nonsynonymous SNV P1472L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 202376 chr1 17314960 17314960 C G rs199994961 ATP13A2 Synonymous SNV V829V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.99 202377 chr13 114157828 114157828 G C rs747802271 TMCO3 Nonsynonymous SNV E257D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 202378 chr12 41967126 41967126 C T PDZRN4 Nonsynonymous SNV H591Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 202379 chr1 17698855 17698855 G A rs141951542 PADI6 Nonsynonymous SNV G39R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.603 202380 chr6 122766228 122766228 G C rs36042888 SERINC1 Synonymous SNV L441L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.65 202381 chr1 18023593 18023593 G A rs759929514 ARHGEF10L Synonymous SNV P889P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.195 202382 chr11 70260735 70260735 G A rs201460414 CTTN Nonsynonymous SNV V127I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 202383 chr12 45725197 45725197 A T ANO6 Nonsynonymous SNV E90D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.78 202384 chr13 23912174 23912174 G A rs145371235 SACS Synonymous SNV P1800P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.297 202385 chr12 28458631 28458631 T C CCDC91 Synonymous SNV R53R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.306 202386 chr12 48501223 48501223 A T PFKM Nonsynonymous SNV T23S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 202387 chr6 135748395 135748395 C T AHI1 Nonsynonymous SNV D892N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.7 202388 chr13 32722021 32722021 C T rs776822581 FRY Synonymous SNV R443R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 202389 chr1 23191648 23191648 G A rs866069361 EPHB2 Nonsynonymous SNV D416N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 202390 chr12 50348466 50348466 C T rs201812544 AQP2 Synonymous SNV V193V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.16 202391 chr12 50385906 50385906 C T rs144941231 RACGAP1 Nonsynonymous SNV R472H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 202392 chr6 146985469 146985469 A G rs905305567 ADGB Nonsynonymous SNV N249D 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 202393 chr12 51213428 51213428 C T ATF1 Stop gain R228X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 202394 chr10 34606232 34606232 C T rs377290036 PARD3 Synonymous SNV G884G 0.002 0 0 0 2 0 0 0 0 0 0 0 15.57 202395 chr12 51771095 51771095 A G GALNT6 Nonsynonymous SNV I183T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 202396 chr13 46135663 46135663 T C ERICH6B 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 202397 chr12 52779212 52779212 C T rs143172691 KRT84 Nonsynonymous SNV R53Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 202398 chr13 52532627 52532627 C T rs61733684 ATP7B Synonymous SNV R641R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 17.56 202399 chr13 52598189 52598189 A G rs17480245 ALG11 Nonsynonymous SNV N108S 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Benign 0.001 202400 chr1 31905924 31905924 G A rs149573156 SERINC2 Nonsynonymous SNV R379Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 202401 chr13 52715168 52715168 T A rs55969405 NEK3 Nonsynonymous SNV E305D 0.003 0 0.003 0 3 0 0 1 1 0 0 0 13.7 202402 chr13 53049267 53049267 T C rs34494025 CKAP2 Synonymous SNV D681D 0.003 0 0.003 0 3 0 0 1 1 0 0 0 0.084 202403 chr12 49425590 49425590 G A KMT2D Nonsynonymous SNV P4300S 0.001 0 0 0 1 0 0 0 0 0 0 0 13 202404 chr12 49445050 49445050 G A KMT2D Synonymous SNV L806L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.332 202405 chr1 33235975 33235975 G A rs200524334 KIAA1522 Nonsynonymous SNV V340I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 202406 chr1 33236360 33236360 G A rs374369857 KIAA1522 Nonsynonymous SNV R468H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 202407 chr1 33245792 33245792 C T rs146393022 YARS1 Nonsynonymous SNV V410M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 26.5 202408 chr13 78320680 78320680 A G rs140407641 SLAIN1 Synonymous SNV A30A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 202409 chr1 35847347 35847347 G A rs139002680 ZMYM4 Synonymous SNV T195T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.61 202410 chr11 93834481 93834481 A C HEPHL1 Nonsynonymous SNV Q852P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.551 202411 chr1 37315996 37315996 G A rs202064024 GRIK3 Synonymous SNV L414L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 202412 chr14 100387165 100387165 C T rs142130096 EML1 Synonymous SNV T620T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.79 202413 chr12 54066365 54066365 A - ATP5MC2 S28Pfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 202414 chr6 16327865 16327885 TGCTGCTGCTGCTGCTGCTGC - ATXN1 Q219_Q225del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 202415 chr6 16327885 16327885 - TGC ATXN1 Q225_H226insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 202416 chr6 16328275 16328275 C A rs146853248 ATXN1 Nonsynonymous SNV A80S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.602 202417 chr6 165693549 165693549 T C rs144444100 C6orf118 Synonymous SNV R469R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.13 202418 chr14 101200514 101200514 G T rs116078181 DLK1 Nonsynonymous SNV V145L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.52 202419 chr14 101201219 101201219 G C rs115349979 DLK1 Nonsynonymous SNV D380H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.2 202420 chr11 134229033 134229033 G T rs745359050 GLB1L2 Nonsynonymous SNV G244V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 202421 chr14 101280856 101280856 A G rs73347569 MIR2392 0 0 0.017 0 0 0 0 5 0 0 0 0 1.31 202422 chr11 981209 981209 T C rs373656140 AP2A2 Synonymous SNV T205T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.811 202423 chr1 39395107 39395107 C T rs75563930 RHBDL2 Synonymous SNV L25L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.15 202424 chr12 55524052 55524052 C T rs147495129 OR9K2 Nonsynonymous SNV T167I 0.003 0 0 0 4 0 0 0 0 0 0 0 1 202425 chr12 53071154 53071154 G A rs150503977 KRT1 Synonymous SNV Y358Y 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign/Likely benign 8.602 202426 chr14 104026280 104026280 C A rs766470677 BAG5 Nonsynonymous SNV A408S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.56 202427 chr14 104407311 104407311 C G RD3L Synonymous SNV G143G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.061 202428 chr12 102061550 102061550 G C MYBPC1 Nonsynonymous SNV K748N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 202429 chr14 104641369 104641369 C T rs550169331 KIF26A Synonymous SNV A748A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 202430 chr14 105352905 105352905 C T rs762810845 CEP170B Nonsynonymous SNV P707S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 202431 chr12 57625327 57625327 G A SHMT2 Nonsynonymous SNV G99S 0.002 0 0 0 2 0 0 0 0 0 0 0 32 202432 chr12 10541397 10541397 G A rs544134653 KLRC4-KLRK1, KLRK1 Nonsynonymous SNV R5C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 202433 chr12 6091116 6091116 A T VWF Nonsynonymous SNV C2375S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 202434 chr12 6091119 6091119 A T VWF Nonsynonymous SNV S2374T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.3 202435 chr1 45345632 45345632 T C rs199893632 EIF2B3 Nonsynonymous SNV Y278C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 14.35 202436 chr1 45480507 45480507 C T rs121918059 UROD Nonsynonymous SNV R292W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.9 202437 chr1 46499771 46499771 A G rs202082116 MAST2 Nonsynonymous SNV K1233R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 202438 chr6 33659476 33659476 C T rs139781035 ITPR3 Nonsynonymous SNV S2437L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.55 202439 chr16 87339428 87339428 G A C16orf95 Stop gain Q200X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 202440 chr12 6964974 6964974 G A rs781796767 USP5 Nonsynonymous SNV R98Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 202441 chr12 71946943 71946943 G A rs139037576 LGR5 Synonymous SNV A173A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 202442 chr12 82747048 82747048 T G CCDC59 Nonsynonymous SNV Q203P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.29 202443 chr11 44095008 44095008 C T rs373648157 ACCS Synonymous SNV R120R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.25 202444 chr1 65243724 65243724 A G rs769738002 RAVER2 Synonymous SNV S245S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.029 202445 chr12 72070803 72070803 A G rs142758041 THAP2 Nonsynonymous SNV E201G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 202446 chr14 39514524 39514525 AT - SEC23A M581Vfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 202447 chr1 68564358 68564358 G A rs530106043 WLS Nonsynonymous SNV S530L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 202448 chr12 126138531 126138531 G A rs747995650 TMEM132B Nonsynonymous SNV V350I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 202449 chr2 224849612 224849612 G A rs150215204 SERPINE2 Synonymous SNV H247H 0.002 0 0 4 2 0 0.01 0 0 0 0 0 10.59 202450 chr1 75088870 75088870 C A rs888400079 ERICH3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.248 202451 chr11 47282995 47282995 G A rs935343625 NR1H3 Nonsynonymous SNV V190I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 202452 chr12 129694139 129694139 C T rs375620383 TMEM132D Nonsynonymous SNV V457M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 202453 chr12 18865792 18865792 T A rs200061726 PLCZ1 Nonsynonymous SNV H129L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.51 202454 chr12 21051399 21051399 C G rs76963574 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV A543G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 202455 chr12 21200143 21200143 T G rs201253485 SLCO1B7 Nonsynonymous SNV F329C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23 202456 chr14 65234555 65234555 C T rs149362111 SPTB Synonymous SNV S2015S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 202457 chr13 100425066 100425066 C T rs552141480 LOC101927437 0.002 0 0 0 2 0 0 0 0 0 0 0 1.256 202458 chr12 21695522 21695522 T G rs150433001 GYS2 Nonsynonymous SNV E518A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 31 202459 chr14 68159696 68159696 T C rs374374748 RDH11 Nonsynonymous SNV N50D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 202460 chr6 71378415 71378415 T C rs1032240307 SMAP1 Synonymous SNV F28F 0 0 0 1 0 0 0.003 0 0 0 0 0 4.435 202461 chr11 5080235 5080235 A G OR52E2 Nonsynonymous SNV L208P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 202462 chr1 104077478 104077478 G A RNPC3 Nonsynonymous SNV G148R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 202463 chr6 75887524 75887524 C G COL12A1 Nonsynonymous SNV E764D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.87 202464 chr11 5424330 5424330 G A rs773135109 OR51J1 Synonymous SNV A168A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.731 202465 chr1 110768715 110768715 C A rs34480599 KCNC4 Synonymous SNV T578T 0 0.005 0 0 0 2 0 0 0 0 0 0 19.91 202466 chr17 29298269 29298269 C T rs772032124 RNF135 Nonsynonymous SNV P60S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.1 202467 chr13 114265331 114265331 C T rs4150731 TFDP1 Synonymous SNV N11N 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 16.47 202468 chr1 112309490 112309490 A G DDX20 Nonsynonymous SNV Y815C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 202469 chr13 33635861 33635861 A T KL Nonsynonymous SNV E882V 0.003 0 0 0 4 0 0 0 0 0 0 0 7.457 202470 chr13 23904798 23904798 G A rs771787080 SACS Nonsynonymous SNV T4259M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.6 202471 chr1 116269704 116269704 A T CASQ2 Nonsynonymous SNV F216I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 202472 chr3 10491156 10491156 G A rs560442165 ATP2B2 Synonymous SNV F24F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 202473 chr7 100091306 100091306 C T rs148833575 NYAP1 Nonsynonymous SNV P769L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 202474 chr11 118499077 118499077 G A rs151289321 PHLDB1 Nonsynonymous SNV G513D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 22.9 202475 chr11 119206369 119206369 G A rs144332850 RNF26 Synonymous SNV R179R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.571 202476 chr14 94404153 94404153 C T rs753414632 ASB2 Synonymous SNV G506G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 202477 chr13 28009592 28009592 G A rs372514591 GTF3A Nonsynonymous SNV R319Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 202478 chr13 30091296 30091296 G A rs141838102 SLC7A1 Synonymous SNV T554T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 202479 chr1 145415369 145415374 GAGGAG - HJV G68_G69del 0 0.003 0 0 0 1 0 0 0 0 0 0 202480 chr14 99183647 99183647 A G rs112991313 C14orf177 0.002 0 0.014 0 2 0 0 4 0 0 0 0 4.917 202481 chr13 36220461 36220461 G A rs146396146 NBEA Synonymous SNV P354P 0.003 0.003 0.02 4 3 1 0.01 6 0 0 0 0 Benign 11.65 202482 chr15 31233851 31233851 T C rs373010409 MTMR10 Nonsynonymous SNV N719S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 202483 chr1 153507293 153507293 G A rs761617974 S100A6 Nonsynonymous SNV A51V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 202484 chr13 99364161 99364161 C G rs375733107 SLC15A1 Nonsynonymous SNV V283L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 24.4 202485 chr1 154934297 154934297 A G rs767231832 LOC101928120 Nonsynonymous SNV E70G 0.003 0.003 0 4 3 1 0.01 0 0 0 0 1 9.641 202486 chr1 155173022 155173022 G A THBS3 Stop gain R130X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 202487 chr14 102900625 102900625 G A rs751957510 TECPR2 Nonsynonymous SNV E491K 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 27.1 202488 chr1 156124503 156124503 A G rs767886618 SEMA4A Nonsynonymous SNV Y45C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 202489 chr14 103396309 103396309 T C AMN Nonsynonymous SNV S298P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.01 202490 chrX 140993885 140993885 C T rs74847167 MAGEC1 Nonsynonymous SNV P232L 0.008 0 0.003 0 9 0 0 1 2 0 0 0 22.7 202491 chr14 103804756 103804756 A G rs148191276 EIF5 Nonsynonymous SNV T178A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 10.85 202492 chr7 102523883 102523883 T C rs140303551 FBXL13 Synonymous SNV K419K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.98 202493 chr15 50546781 50546781 G A rs199889175 HDC Synonymous SNV P174P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.419 202494 chr14 20836631 20836631 C T TEP1 Nonsynonymous SNV V2509M 0.003 0 0 0 4 0 0 0 0 0 0 0 6.392 202495 chr1 158988023 158988023 C T rs751208160 IFI16 Nonsynonymous SNV P129L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.62 202496 chr15 56208822 56208822 C G rs111308798 NEDD4 Nonsynonymous SNV E70Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 22.5 202497 chr1 165649860 165649860 T G rs138240128 ALDH9A1 Nonsynonymous SNV E218A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.7 202498 chr1 169509941 169509941 T G F5 Nonsynonymous SNV I1463L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.7 202499 chr1 169510707 169510707 G A rs750603442 F5 Synonymous SNV D1207D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.337 202500 chr14 23821005 23821005 C G rs546469474 SLC22A17 Nonsynonymous SNV L109F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 202501 chr12 72068167 72068167 A G rs147151987 THAP2 Nonsynonymous SNV I86V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 202502 chr12 75874792 75874792 C G rs148391524 GLIPR1 Nonsynonymous SNV F44L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.8 202503 chr14 23899120 23899120 G A rs34803781 MYH7 Synonymous SNV N334N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.085 202504 chr1 175116129 175116129 C T TNN Synonymous SNV I1274I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.35 202505 chr1 176999962 176999962 C T rs771685991 ASTN1 Nonsynonymous SNV R331Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 202506 chr1 178852635 178852635 C G RALGPS2 Nonsynonymous SNV P291A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 202507 chr10 100020863 100020863 G A rs201595099 LOXL4 Nonsynonymous SNV R160W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 202508 chr7 139138437 139138437 C T rs200173177 KLRG2 Nonsynonymous SNV E376K 0 0 0 1 0 0 0.003 0 0 0 0 0 3.974 202509 chr10 100189568 100189568 C G rs11592273 HPS1 Nonsynonymous SNV G196R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 202510 chr10 101165576 101165576 T G rs138181259 GOT1 Synonymous SNV A193A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 10.07 202511 chr7 142650970 142650970 T G rs769853241 KEL Nonsynonymous SNV Q333P 0 0 0 1 0 0 0.003 0 0 0 0 0 24 202512 chr10 103825485 103825485 C T rs544314793 HPS6 Nonsynonymous SNV P85L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.4 202513 chr10 104139187 104139187 G T rs371928945 GBF1 Synonymous SNV L1543L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.353 202514 chr15 80847231 80847231 A G rs370762320 LOC101929586 0 0 0.01 0 0 0 0 3 0 0 0 0 4.079 202515 chr1 186352203 186352203 A G rs201723992 ODR4 Nonsynonymous SNV K50R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 13.8 202516 chr1 196871717 196871717 T C rs145744152 CFHR4 Synonymous SNV D76D 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 Benign 0.019 202517 chr10 105824241 105824241 G C COL17A1 Nonsynonymous SNV Q241E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.19 202518 chr1 200842715 200842715 C T rs930213514 GPR25 Nonsynonymous SNV P184S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.281 202519 chr1 200967687 200967687 C T rs61740473 KIF21B Synonymous SNV A634A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.11 202520 chr7 150171183 150171183 C T rs576578780 GIMAP8 Nonsynonymous SNV R256C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 202521 chr13 109793618 109793618 C T rs200683240 MYO16 Synonymous SNV S1686S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.049 202522 chr7 151261269 151261269 C T rs367768776 PRKAG2 Synonymous SNV T252T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 16.84 202523 chr1 202249925 202249925 C T rs754157620 LGR6 Nonsynonymous SNV R221C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 202524 chr10 118639498 118639498 G A rs557809158 ENO4 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.1 202525 chr15 90294228 90294228 G A MESP1 Synonymous SNV L79L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.468 202526 chr7 158449120 158449120 G A NCAPG2 Synonymous SNV N740N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.451 202527 chr15 93015373 93015373 T C rs770502988 C15orf32 0 0 0.003 0 0 0 0 1 0 0 0 0 1.942 202528 chr15 93749801 93749801 G C rs67782647 LOC105370980 Nonsynonymous SNV A127P 0 0 0.01 0 0 0 0 3 0 0 0 0 2.514 202529 chr14 75130667 75130667 G A rs759974019 AREL1 Synonymous SNV A768A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.32 202530 chr14 75269317 75269317 G C rs765858166 YLPM1 Nonsynonymous SNV D1487H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 202531 chr1 209880128 209880128 C T rs746592856 HSD11B1 Synonymous SNV F98F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.56 202532 chr16 12060134 12060134 C T rs753224006 TNFRSF17 Synonymous SNV F71F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 202533 chr7 29103736 29103736 G A rs771171667 CPVL Stop gain R182X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 202534 chr14 77765038 77765038 G A POMT2 Nonsynonymous SNV P334S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 31 202535 chr1 218578532 218578532 A G rs755563719 TGFB2 Nonsynonymous SNV Y123C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 202536 chr1 220835285 220835285 G A rs755347862 MARK1 Nonsynonymous SNV R685Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 202537 chr7 31746875 31746875 A G PPP1R17 Nonsynonymous SNV D98G 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 202538 chr16 18863489 18863489 G C rs201196669 SMG1 Nonsynonymous SNV S1651C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 202539 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*78 0.001 0 0 1 1 0 0.003 0 0 0 0 0 202540 chr17 77111780 77111780 G T RBFOX3 Synonymous SNV P6P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.469 202541 chr3 132196983 132196983 G A rs141952333 DNAJC13 Nonsynonymous SNV R903K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.1 202542 chr1 227946879 227946879 A G rs138539313 SNAP47 Synonymous SNV P227P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.726 202543 chr3 139076792 139076792 G A rs772210427 COPB2 Synonymous SNV L878L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.62 202544 chr1 230846446 230846446 A G rs61731497 AGT Nonsynonymous SNV C51R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 202545 chr17 79633927 79633927 G T rs199606157 CCDC137 Nonsynonymous SNV R44L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 202546 chr1 231830294 231830294 C T rs148973353 DISC1 Nonsynonymous SNV R264W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.83 202547 chr1 232172562 232172562 C A DISC1 Nonsynonymous SNV H728Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.538 202548 chr16 2818185 2818185 C G rs59593256 SRRM2 Synonymous SNV S2552S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.182 202549 chr11 86056638 86056638 T C rs148932996 HIKESHI Synonymous SNV F164F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.481 202550 chr1 235840480 235840480 T C LYST Nonsynonymous SNV Y3650C 0 0.003 0 0 0 1 0 0 0 0 0 0 29 202551 chr13 99907549 99907549 G A rs746424593 GPR18 Nonsynonymous SNV T193I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.214 202552 chr1 236758864 236758864 C T rs775787163 HEATR1 Nonsynonymous SNV V356I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 202553 chr16 31471153 31471153 C T rs760150629 ARMC5 Nonsynonymous SNV P103L 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 20.7 202554 chr7 55929686 55929686 C T rs114015652 SEPTIN14 Nonsynonymous SNV A2T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.2 202555 chr14 102551075 102551077 CTC - rs548769729 HSP90AA1 E308del 0.001 0 0 0 1 0 0 0 0 0 0 0 202556 chr16 3544723 3544723 G C rs762958884 C16orf90 Synonymous SNV L67L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 202557 chr7 6560236 6560236 C T GRID2IP Nonsynonymous SNV R414Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 202558 chr3 183516747 183516747 C T rs201941589 YEATS2 Nonsynonymous SNV P1099S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.13 202559 chr7 73471012 73471012 G C rs782734629 ELN Nonsynonymous SNV Q380H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.213 202560 chr16 4847824 4847824 C T rs138409264 ROGDI Nonsynonymous SNV R238H 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 Benign/Likely benign 29.8 202561 chr16 4848579 4848579 G A rs150687774 ROGDI Synonymous SNV S174S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 7.054 202562 chr15 42034859 42034859 G A rs756036060 MGA Synonymous SNV K1567K 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.398 202563 chr3 184911123 184911123 C T rs150744159 EHHADH Nonsynonymous SNV G259S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.1 202564 chr3 186383987 186383987 C T rs149992908 HRG Nonsynonymous SNV A56V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.3 202565 chr16 56368672 56368672 G A rs375960435 GNAO1 Nonsynonymous SNV A166T 0 0 0.007 0 0 0 0 2 0 0 0 0 21.8 202566 chr15 42980019 42980019 T C STARD9 Synonymous SNV D2081D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.028 202567 chr15 45393419 45393419 G A rs375112603 DUOX2 Nonsynonymous SNV R969W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 202568 chr15 41476421 41476421 C T rs774702210 EXD1 Nonsynonymous SNV G418E 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 202569 chr7 92734543 92734543 C G rs139583166 SAMD9 Nonsynonymous SNV V290L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 202570 chr2 3726083 3726083 A C rs115017990 ALLC Nonsynonymous SNV H37P 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.441 202571 chr3 193272449 193272452 GTGT - ATP13A4-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 202572 chr10 71142282 71142282 G A HK1 Synonymous SNV V403V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 202573 chr15 52901287 52901287 T C FAM214A Synonymous SNV L615L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 202574 chr16 68719126 68719126 C T rs144403828 CDH3 Synonymous SNV D426D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.56 202575 chr15 54306358 54306358 G C rs147297407 UNC13C Nonsynonymous SNV G420R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.75 202576 chr15 56161834 56161834 A G rs1020732502 NEDD4 Synonymous SNV Y552Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.41 202577 chr16 69600243 69600243 A C rs373280302 NFAT5 Synonymous SNV L13L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.018 202578 chr3 195782027 195782027 T - rs751420390 TFRC N326Tfs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 202579 chr16 70502863 70502863 C A rs370987850 FCSK Nonsynonymous SNV P259T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.4 202580 chr10 73122284 73122284 G A rs373404056 SLC29A3 Synonymous SNV T371T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.4 202581 chr15 59944438 59944438 G A GTF2A2 Synonymous SNV N13N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.202 202582 chr4 843686 843686 G A rs56278731 GAK Synonymous SNV P1197P 0.003 0 0 0 4 0 0 0 0 0 0 0 10.71 202583 chr10 74912135 74912135 C T ECD Synonymous SNV R276R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.21 202584 chr10 75051134 75051134 G A rs777836511 CFAP70 Nonsynonymous SNV L575F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 202585 chr16 71660333 71660333 G A rs775098833 MARVELD3 Synonymous SNV G67G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.504 202586 chr8 10583507 10583507 A G SOX7 Nonsynonymous SNV L303P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 202587 chr8 107782075 107782075 C A rs772394408 ABRA Nonsynonymous SNV S115I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 202588 chr10 75802897 75802897 A G rs759937112 VCL Synonymous SNV P75P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 14.97 202589 chr15 51041914 51041914 C T rs372546749 SPPL2A Synonymous SNV A32A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.18 202590 chr16 77317954 77317954 C T rs61749042 ADAMTS18 Nonsynonymous SNV V1017I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.66 202591 chr8 123964946 123964946 G A ZHX2 Nonsynonymous SNV G399E 0 0 0 1 0 0 0.003 0 0 0 0 0 23 202592 chr15 55838888 55838888 G T rs147976957 PYGO1 Nonsynonymous SNV P198H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 202593 chr15 72030269 72030269 C T rs202043198 THSD4 Nonsynonymous SNV P250L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.29 202594 chr11 63149641 63149641 C T rs373670819 SLC22A9 Nonsynonymous SNV S322F 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 22 202595 chr14 51390744 51390744 C A rs138364932 PYGL Synonymous SNV V167V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.95 202596 chr15 59910653 59910653 G A rs148849981 GCNT3 Synonymous SNV G72G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 202597 chr15 59911238 59911238 T C rs147420014 GCNT3 Synonymous SNV Y267Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 202598 chr15 74635369 74635369 G A rs4986873 CYP11A1 Synonymous SNV F313F 0.005 0 0.01 2 6 0 0.005 3 0 0 0 0 Benign 10.17 202599 chr2 29416706 29416706 T C ALK Nonsynonymous SNV K348R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.1 202600 chr11 64666136 64666136 C T rs61745749 ATG2A Nonsynonymous SNV R1540Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 202601 chr15 78337301 78337301 G C TBC1D2B Synonymous SNV A208A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.339 202602 chr2 33482390 33482390 C T rs771535027 LTBP1 Nonsynonymous SNV T410M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 202603 chr2 33623445 33623445 G A LTBP1 Nonsynonymous SNV D1299N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 5.83 202604 chr2 37406716 37406716 T C rs11569747 SULT6B1 Nonsynonymous SNV I138M 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.18 202605 chr2 37516585 37516585 G A rs62001881 PRKD3 Nonsynonymous SNV R211C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.7 202606 chr16 88495913 88495913 G A rs551591362 ZNF469 Nonsynonymous SNV E679K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 16.57 202607 chr14 65208643 65208643 T C PLEKHG3 Nonsynonymous SNV I803T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 202608 chr2 44052035 44052035 G A rs373237261 ABCG5 Synonymous SNV D299D 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 10.76 202609 chr15 72455689 72455689 C T GRAMD2A Nonsynonymous SNV E292K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.505 202610 chr2 44550503 44550503 A C PREPL Synonymous SNV P536P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.926 202611 chr8 144801593 144801593 C T rs60732298 MAPK15 Nonsynonymous SNV T221M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 202612 chr16 88809395 88809395 T A LOC339059 0 0 0.003 0 0 0 0 1 0 0 0 0 4.836 202613 chr11 66240719 66240719 G A PELI3 Nonsynonymous SNV R48H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 202614 chr16 88932289 88932289 G T rs773168141 PABPN1L Nonsynonymous SNV P106T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.173 202615 chr16 89629396 89629396 A G RPL13 Nonsynonymous SNV I194M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 202616 chr16 89985799 89985799 T C rs61996344 MC1R Nonsynonymous SNV F45L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.9 202617 chr2 68873205 68873205 C T rs111648620 PROKR1 Synonymous SNV I84I 0 0.005 0 0 0 2 0 0 0 0 0 0 14.89 202618 chr15 90185520 90185520 C T rs148779858 KIF7 Nonsynonymous SNV E770K 0.004 0 0 0 5 0 0 0 0 0 0 0 34 202619 chr2 70188089 70188089 C T rs138437547 ASPRV1 Synonymous SNV K244K 0 0.005 0 0 0 2 0 0 0 0 0 0 11.95 202620 chr16 920002 920002 C T rs201927375 LMF1 Nonsynonymous SNV D324N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 202621 chr17 12656191 12656191 A G MYOCD Nonsynonymous SNV N529S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 202622 chr2 74592762 74592762 T C rs568812456 DCTN1 Nonsynonymous SNV N836S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.4 202623 chr17 16256506 16256506 T G rs973781889 CENPV Nonsynonymous SNV E82A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 202624 chr17 1636829 1636829 A G WDR81 Nonsynonymous SNV I297V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 202625 chr2 75907393 75907395 TTG - rs759624389 GCFC2 T410del 0 0.003 0 0 0 1 0 0 0 0 0 0 202626 chr11 103024116 103024116 C T DYNC2H1 Synonymous SNV L1061L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.96 202627 chr17 17068937 17068937 C T rs200227865 MPRIP Synonymous SNV S1376S 0.003 0.003 0.02 0 4 1 0 6 0 0 0 0 22.6 202628 chr11 10518373 10518373 C T rs144107914 AMPD3 Nonsynonymous SNV S323L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 20.7 202629 chr17 20130890 20130890 G A rs138043222 SPECC1 Synonymous SNV R595R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.82 202630 chr15 93007349 93007349 G A rs375025272 ST8SIA2 Nonsynonymous SNV V267I 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.3 202631 chr2 97357019 97357019 T C FER1L5 Nonsynonymous SNV W946R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.559 202632 chr2 97361561 97361561 C T rs200034058 FER1L5 Nonsynonymous SNV T1326M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.41 202633 chr8 22472484 22472484 C T CCAR2 Nonsynonymous SNV T392I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 202634 chr16 1555411 1555411 G T TELO2 Nonsynonymous SNV V615L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.3 202635 chr16 10626883 10626883 G A rs373205953 EMP2 Nonsynonymous SNV A128V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 202636 chr17 25932684 25932684 G A rs374385883 KSR1 Synonymous SNV E613E 0 0 0.007 0 0 0 0 2 0 0 0 0 8.613 202637 chr8 29033681 29033681 G A rs371184173 KIF13B Synonymous SNV L283L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.83 202638 chr8 29923534 29923534 T G rs752725293 SARAF Nonsynonymous SNV N150H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.023 202639 chr11 119508844 119508844 C T rs187637940 NECTIN1 Synonymous SNV S447S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.56 202640 chr16 2198877 2198877 C T RAB26 Synonymous SNV S31S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 202641 chr2 120231031 120231031 G A rs144705246 SCTR Nonsynonymous SNV R135W 0 0.003 0 0 0 1 0 0 0 0 0 0 28 202642 chr11 121485599 121485599 T A rs62622819 SORL1 Nonsynonymous SNV H1813Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.402 202643 chr11 121491904 121491904 A G rs141089496 SORL1 Synonymous SNV Q2007Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.485 202644 chr17 3477240 3477240 G A rs200059982 TRPV1 Nonsynonymous SNV T597M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 202645 chr17 3489184 3489184 G A rs201323996 TRPV1 Stop gain R421X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 202646 chr8 61749397 61749397 C T rs551004072 CHD7 Synonymous SNV D1337D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 202647 chr11 123777854 123777854 G A rs79430449 OR8D4 Nonsynonymous SNV S239N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 202648 chr11 123894323 123894323 A T rs78477942 OR10G9 Nonsynonymous SNV I202F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.376 202649 chr17 36905884 36905884 C T rs556537671 LOC100287808 0 0 0.003 0 0 0 0 1 0 0 0 0 19.62 202650 chr11 123894328 123894328 G A rs78796858 OR10G9 Synonymous SNV G203G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.03 202651 chr11 123900748 123900748 G A rs79870106 OR10G8 Nonsynonymous SNV C140Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.7 202652 chr15 49254748 49254748 T G rs949864492 SHC4 Synonymous SNV A155A 0.003 0 0 0 4 0 0 0 0 0 0 0 2.956 202653 chr16 30581524 30581524 G T rs149939031 ZNF688 Nonsynonymous SNV R168S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 202654 chr17 39079243 39079243 A C rs777084466 KRT23 X286G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.608 202655 chr2 159514647 159514647 T C PKP4 Synonymous SNV V638V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.9 202656 chr12 6965555 6965555 G A rs190200818 USP5 Synonymous SNV Q175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 202657 chr12 7354903 7354903 C T rs777733574 PEX5 Stop gain R237X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 38 202658 chr2 167328947 167328947 A G rs765577403 SCN7A Nonsynonymous SNV L151S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 202659 chr2 167330808 167330808 G A rs200874141 SCN7A Nonsynonymous SNV A94V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 202660 chr11 131781428 131781428 C G rs376930803 NTM Nonsynonymous SNV S18C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 15.88 202661 chr16 4747039 4747039 C T rs35716126 ANKS3 Nonsynonymous SNV R481Q 0.003 0.008 0 0 4 3 0 0 0 0 0 0 35 202662 chr17 41243509 41243509 T C rs28897689 BRCA1 Nonsynonymous SNV R1300G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 18.95 202663 chr17 41522266 41522266 G A MIR2117HG 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 202664 chr17 41879222 41879222 G A rs113789786 MPP3 Synonymous SNV A560A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.63 202665 chr9 111659305 111659305 T C rs779097269 ELP1 Nonsynonymous SNV I490V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 202666 chr16 3569909 3569909 G T rs35065818 CLUAP1 Nonsynonymous SNV V30F 0.006 0.008 0.007 3 7 3 0.008 2 0 0 0 0 25.4 202667 chr4 176923491 176923491 C A rs773122799 GPM6A Nonsynonymous SNV G84V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.45 202668 chr17 42254204 42254204 A G rs200625323 ASB16 Nonsynonymous SNV E223G 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 202669 chr2 178545626 178545628 CTC - PDE11A R340del 0 0.003 0 0 0 1 0 0 0 0 0 0 202670 chr15 72037466 72037466 G A rs374464107 THSD4 Nonsynonymous SNV R283H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.8 202671 chr16 3712106 3712106 C A rs142421032 TRAP1 Nonsynonymous SNV A555S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 202672 chr16 3712964 3712964 G A rs144965528 TRAP1 Synonymous SNV A518A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.504 202673 chr16 3724451 3724451 A G rs142413437 TRAP1 Synonymous SNV H258H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.181 202674 chr11 18723512 18723512 A G TMEM86A Nonsynonymous SNV S227G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.34 202675 chr9 114128901 114128901 T C rs776466136 ECPAS Nonsynonymous SNV Y1707C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 202676 chr16 4457527 4457527 G A rs150918473 CORO7, CORO7-PAM16 Synonymous SNV D136D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 1.878 202677 chr2 179454489 179454489 C T rs776314797 TTN Nonsynonymous SNV E11590K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.2 202678 chr11 193897 193897 C G rs769857690 SCGB1C1, SCGB1C2 Nonsynonymous SNV L81V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 202679 chr12 98926856 98926856 G A rs139700737 TMPO Nonsynonymous SNV R274K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.311 202680 chr17 48248907 48248907 C G HILS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.534 202681 chr9 119106909 119106909 C T PAPPA Synonymous SNV Y1233Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.965 202682 chr17 49097534 49097534 T C SPAG9 Synonymous SNV G202G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.427 202683 chr11 281463 281463 C T NLRP6 Nonsynonymous SNV R577W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24 202684 chr2 186669108 186669108 C A FSIP2 Synonymous SNV V5025V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.419 202685 chr5 5235264 5235264 G A rs375617826 ADAMTS16 Nonsynonymous SNV R663Q 0.003 0 0 0 4 0 0 0 0 0 0 0 15.54 202686 chr11 32875036 32875036 G C rs768653468 PRRG4 Nonsynonymous SNV R215T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.4 202687 chr17 56232619 56232619 T C rs191935300 OR4D1 Synonymous SNV Y35Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 202688 chr17 56385908 56385908 G A TSPOAP1 Synonymous SNV L1515L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 202689 chr15 86807862 86807862 G A rs768390442 AGBL1 Nonsynonymous SNV R487K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 202690 chr17 57941090 57941090 G A TUBD1 Synonymous SNV N182N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.412 202691 chr16 72821593 72821593 - GCCGCC rs775101099 ZFHX3 G2613_S2614insGG 0.002 0 0 0 2 0 0 0 0 0 0 0 202692 chr15 89421343 89421343 C T HAPLN3 Nonsynonymous SNV G314D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 202693 chr11 403098 403098 G T rs377458542 PKP3 Synonymous SNV A586A 0.003 0 0.01 0 3 0 0 3 0 0 0 0 10.75 202694 chr13 20796867 20796867 A C rs752343828 GJB6 Nonsynonymous SNV S251R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 202695 chr9 128724473 128724473 G A PBX3 Nonsynonymous SNV G293R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 202696 chr16 76669491 76669491 G A rs932844180 LINC02125 0.004 0 0 1 5 0 0.003 0 0 0 0 0 3.331 202697 chr16 70698862 70698862 T C rs746756231 MTSS2 Synonymous SNV A422A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.567 202698 chr9 130653065 130653065 G T rs549137165 ST6GALNAC6 Synonymous SNV P151P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.636 202699 chr2 206872113 206872113 T C rs201681502 INO80D Nonsynonymous SNV N605D 0 0.005 0 0 0 2 0 0 0 0 0 0 24 202700 chr2 209045944 209045944 T C rs572148824 C2orf80 Nonsynonymous SNV M98V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 202701 chr16 1034798 1034798 G A rs139002998 SOX8 Synonymous SNV P251P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 1.752 202702 chr16 80718448 80718448 C T rs145169210 CDYL2 Synonymous SNV A201A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.472 202703 chr13 32913691 32913691 C T rs28897734 BRCA2 Synonymous SNV S1733S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 4.665 202704 chr2 215855569 215855569 T A rs141077206 ABCA12 Nonsynonymous SNV M843L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 15.37 202705 chr2 215890462 215890462 A G rs189141015 ABCA12 Nonsynonymous SNV S90P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.89 202706 chr5 55042033 55042033 T C rs141308424 DDX4 Synonymous SNV T37T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.04 202707 chr2 219677340 219677340 G A rs199691576 CYP27A1 Nonsynonymous SNV V238M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.85 202708 chr16 84486826 84486826 C T rs773582994 ATP2C2 Synonymous SNV A487A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 202709 chr2 219874697 219874697 G T rs145107151 CFAP65 Nonsynonymous SNV F1473L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.9 202710 chr2 220107975 220107975 G A rs145811550 GLB1L Nonsynonymous SNV P45L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 31 202711 chr16 19718442 19718442 C T rs752573375 KNOP1 Synonymous SNV S366S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.52 202712 chr2 220477947 220477947 G A rs766513224 STK11IP Nonsynonymous SNV R846H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 202713 chr9 139617630 139617630 G A rs371212891 DIPK1B Nonsynonymous SNV V234M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.1 202714 chr12 52962133 52962133 C T rs57387512 KRT74 Nonsynonymous SNV R392Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 22.4 202715 chr14 100091402 100091402 C - rs997436021 HHIPL1 Stop gain C6* 0.002 0 0 0 2 0 0 0 0 0 0 0 202716 chr17 12906826 12906826 A C ELAC2 Nonsynonymous SNV V310G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 202717 chr17 7751016 7751016 A G rs768440177 KDM6B Synonymous SNV P470P 0 0 0.007 0 0 0 0 2 0 0 0 0 5.132 202718 chr17 7752083 7752083 C G rs142934776 KDM6B Nonsynonymous SNV S826C 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 24.1 202719 chr16 89661816 89661816 C T rs555104096 CPNE7 Synonymous SNV T448T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.23 202720 chr16 89782895 89782895 C A rs199895191 VPS9D1 Nonsynonymous SNV G136W 0.003 0 0 0 3 0 0 0 0 0 0 0 20.2 202721 chr17 18055440 18055440 C T rs201535856 MYO15A Synonymous SNV A2636A 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Likely benign 13.84 202722 chr14 104645014 104645014 C T rs140610303 KIF26A Synonymous SNV F1746F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 202723 chr14 105353943 105353943 G A rs1019712982 CEP170B Nonsynonymous SNV A1053T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 202724 chr16 30960813 30960813 C G ORAI3 Nonsynonymous SNV S68C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 202725 chr12 56352389 56352389 T A rs777429268 PMEL Nonsynonymous SNV S27C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 202726 chr16 31202744 31202744 G A rs138901914 FUS Synonymous SNV R521R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 12.46 202727 chr17 80543868 80543868 C T rs754821281 FOXK2 Synonymous SNV T456T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.02 202728 chr9 35608246 35608246 C T rs374620030 TESK1 Synonymous SNV N135N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.216 202729 chr18 10705456 10705456 G A rs539810112 PIEZO2 Synonymous SNV D1846D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.36 202730 chr16 4790328 4790328 C T rs369824433 C16orf71 Nonsynonymous SNV L151F 0.002 0 0 0 2 0 0 0 0 0 0 0 19.35 202731 chr17 32953513 32953513 G C rs142221906 TMEM132E Synonymous SNV L145L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.347 202732 chr18 23865959 23865959 A G rs191951929 TAF4B Synonymous SNV T362T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.06 202733 chr3 9803343 9803343 G A rs757321703 CAMK1 Synonymous SNV S176S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.71 202734 chr17 25909814 25909814 C T rs547167724 KSR1 Synonymous SNV S221S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.407 202735 chr3 12195027 12195027 G A TIMP4 Synonymous SNV I221I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 202736 chr3 12447606 12447606 - G rs769209078 PPARG Frameshift insertion E284Gfs*68 0.001 0.003 0 0 1 1 0 0 0 0 0 0 202737 chr16 57060066 57060066 C T rs761423694 NLRC5 Nonsynonymous SNV A404V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.73 202738 chr18 44662672 44662672 C G rs375590795 HDHD2 0 0 0.003 0 0 0 0 1 0 0 0 0 18.34 202739 chr18 47018089 47018091 CAT - rs560907762 SNORD58B 0 0 0.003 0 0 0 0 1 0 0 0 0 202740 chr17 37817254 37817254 G A rs34408242 STARD3 Nonsynonymous SNV R334H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 202741 chr16 67154096 67154096 A T C16orf70 Nonsynonymous SNV Q49L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 202742 chr18 52262274 52262274 C T rs139420428 DYNAP Synonymous SNV C80C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.292 202743 chr9 98740437 98740437 C T rs760649098 ERCC6L2 Synonymous SNV D1155D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 202744 chr3 32746384 32746384 A G rs895501361 CNOT10 Nonsynonymous SNV T67A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.02 202745 chr3 32932485 32932485 G A rs201860756 TRIM71 Nonsynonymous SNV G597S 0 0.003 0 0 0 1 0 0 0 0 0 0 30 202746 chr5 145719482 145719482 G T rs779823549 POU4F3 Synonymous SNV P164P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.397 202747 chr16 71483088 71483088 A G ZNF23 Synonymous SNV Y222Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 202748 chr19 8999456 8999456 C T rs796255295 MUC16 Synonymous SNV Q13573Q 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 6.892 202749 chr18 66377292 66377292 A T rs780526592 TMX3 Synonymous SNV V77V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.86 202750 chr16 75646450 75646450 C G ADAT1 Nonsynonymous SNV R158T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 202751 chr18 6896561 6896561 G A rs374093700 ARHGAP28 Nonsynonymous SNV A497T 0 0 0.003 0 0 0 0 1 0 0 0 0 31 202752 chr13 100909913 100909913 T C PCCA Synonymous SNV D208D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.244 202753 chr3 40573688 40573688 A G ZNF621 Nonsynonymous SNV I143V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.144 202754 chrX 153421844 153421844 A G rs2315122 OPN1LW Nonsynonymous SNV I274V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 202755 chrX 153421847 153421847 T C rs2315123 OPN1LW Nonsynonymous SNV F275L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 202756 chrX 153421849 153421849 T G rs2315124 OPN1LW Nonsynonymous SNV F275L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 202757 chrX 153421852 153421852 G A rs2315125 OPN1LW Synonymous SNV A276A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.5 202758 chrX 153421854 153421854 A T rs2315126 OPN1LW Nonsynonymous SNV Y277F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 202759 chrX 153421859 153421859 G T rs2315127 OPN1LW Nonsynonymous SNV V279F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.115 202760 chr16 84216899 84216899 G A TAF1C Nonsynonymous SNV A120V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 202761 chr14 72921268 72921268 C T rs192421686 RGS6 Nonsynonymous SNV L38F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 202762 chr17 43319412 43319412 C T FMNL1 Nonsynonymous SNV P595L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.15 202763 chr3 46658712 46658712 C T rs186252375 FAM240A Nonsynonymous SNV R19W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.63 202764 chr19 10961098 10961098 G A rs555850116 C19orf38 Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.612 202765 chr16 88494282 88494282 A G ZNF469 Nonsynonymous SNV E135G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.261 202766 chr17 46691645 46691645 T G rs992702927 HOXB8 Nonsynonymous SNV Q141P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 202767 chr3 47162768 47162768 T G SETD2 Nonsynonymous SNV I1076L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.653 202768 chr14 77767480 77767480 T C rs371988132 POMT2 Nonsynonymous SNV T257A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 202769 chr19 12223877 12223877 A T rs573810304 ZNF788P Nonsynonymous SNV K505N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.67 202770 chr11 62933555 62933555 G A rs140999524 SLC22A25 Synonymous SNV L416L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.723 202771 chr3 49052598 49052598 G T rs143362247 WDR6 Nonsynonymous SNV M1055I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.15 202772 chr19 12805450 12805450 A G rs200642809 FBXW9 Synonymous SNV V212V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.718 202773 chr3 49679894 49679894 C G BSN Nonsynonymous SNV S276C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 202774 chr14 89202769 89202769 C T EML5 Nonsynonymous SNV A330T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 202775 chr14 89878811 89878811 C G FOXN3 Nonsynonymous SNV V4L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 202776 chr19 14079418 14079418 G A rs140854938 RFX1 Nonsynonymous SNV S564L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 202777 chr19 14862396 14862396 G A rs145425662 ADGRE2 Nonsynonymous SNV L568F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 202778 chr14 93709413 93709413 C T rs767127376 BTBD7 Nonsynonymous SNV D518N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 202779 chr11 64825724 64825724 T G NAALADL1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 202780 chr19 15052747 15052747 G T OR7C2 Nonsynonymous SNV W149C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 202781 chr14 94395407 94395407 T C rs147001146 FAM181A Nonsynonymous SNV V259A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 202782 chr19 15338661 15338661 C T rs760409070 EPHX3 Nonsynonymous SNV E260K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 202783 chr3 53326691 53326691 T C DCP1A Nonsynonymous SNV Q105R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 202784 chr14 97327024 97327024 C T rs147853760 VRK1 Synonymous SNV D340D 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 12.44 202785 chr11 6589022 6589022 C T rs760665516 DNHD1 Nonsynonymous SNV P4095S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.78 202786 chr19 16791283 16791283 G A rs145997838 TMEM38A Synonymous SNV V119V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.07 202787 chr3 67659951 67659951 T C SUCLG2 Nonsynonymous SNV N52D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.954 202788 chr10 121579011 121579011 A G INPP5F Nonsynonymous SNV I6V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.77 202789 chr10 121619355 121619355 C T MCMBP Nonsynonymous SNV E34K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 202790 chr3 98251038 98251038 T G rs147957406 GPR15 Nonsynonymous SNV L54R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 202791 chr17 58143588 58143588 C T HEATR6 Synonymous SNV L466L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 202792 chr14 102916016 102916016 G A rs200175137 TECPR2 Synonymous SNV T1042T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.87 202793 chr1 153507679 153507679 G A rs201689788 S100A6 Nonsynonymous SNV S46L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.42 202794 chr19 23837481 23837481 A C rs202007180 ZNF675 Nonsynonymous SNV F85C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 202795 chr19 2757367 2757367 C T rs751458337 SGTA Nonsynonymous SNV A306T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 202796 chr19 2853727 2853727 T C rs201845669 ZNF555 Nonsynonymous SNV M554T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 202797 chr19 32949048 32949048 C T rs200057970 DPY19L3 Synonymous SNV L378L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.01 202798 chr3 115439684 115439684 C T rs374303206 GAP43 Synonymous SNV D224D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.68 202799 chr14 20710968 20710968 A G rs111641886 OR11H4 Synonymous SNV V6V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.004 202800 chr14 20823923 20823923 T C PARP2 Synonymous SNV P305P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.949 202801 chr17 73008798 73008798 G T rs368786552 MRPL58 Nonsynonymous SNV C6F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 202802 chr17 73872112 73872112 G A rs776626071 TRIM47 Synonymous SNV L357L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 202803 chr11 92600159 92600159 A C rs773324420 FAT3 Nonsynonymous SNV T3971P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 202804 chr17 74467834 74467834 C T rs770206566 RHBDF2 Nonsynonymous SNV A789T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.382 202805 chr19 36332649 36332649 G A rs386833926 NPHS1 Nonsynonymous SNV S928L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 202806 chr17 34866587 34866587 C T rs201129675 MYO19 Synonymous SNV A385A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.865 202807 chr19 37239905 37239905 C T rs546150375 ZNF850 Synonymous SNV G647G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.346 202808 chr3 127340015 127340015 C T rs746374991 MCM2 Nonsynonymous SNV R850C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 202809 chr14 24646565 24646565 G A rs546893556 REC8 Nonsynonymous SNV R237Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.312 202810 chr14 24709956 24709956 G A TINF2 Nonsynonymous SNV P209S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.79 202811 chr1 162560282 162560282 C T rs61747497 UAP1 Nonsynonymous SNV R447C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 202812 chr3 130409344 130409344 G A rs773216329 PIK3R4 Synonymous SNV L1085L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.351 202813 chr19 38945940 38945940 T C RYR1 Synonymous SNV F502F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.123 202814 chr3 137787055 137787055 G A rs6776890 DZIP1L Synonymous SNV P590P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 1.755 202815 chr19 41239241 41239241 C T rs146632462 ITPKC Nonsynonymous SNV T549I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 202816 chr15 78807407 78807407 T A rs183603441 HYKK Stop gain Y145X 0.004 0.003 0.003 0 5 1 0 1 1 0 0 0 35 202817 chr3 147113780 147113780 T C rs768430279 ZIC4 Nonsynonymous SNV K233E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 202818 chr3 147128790 147128790 G A rs768803366 ZIC1 Synonymous SNV T297T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.69 202819 chr19 42804350 42804350 A G rs200672946 PAFAH1B3 Synonymous SNV N86N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.507 202820 chr3 151166317 151166317 T C rs887109475 IGSF10 Synonymous SNV E484E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.086 202821 chr6 87796321 87796321 C G rs556870920 CGA Nonsynonymous SNV G32A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.251 202822 chr19 44079591 44079591 C A rs2307186 XRCC1 Nonsynonymous SNV R7L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 202823 chr10 5790890 5790890 G A rs186674940 TASOR2 Nonsynonymous SNV G1755S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 16.75 202824 chr19 44159722 44159722 C T rs140011964 PLAUR Nonsynonymous SNV R159H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.376 202825 chr14 60587944 60587944 G T rs141610334 PCNX4 Nonsynonymous SNV G424V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 202826 chr3 169487251 169487251 C T ACTRT3 Nonsynonymous SNV G20S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 202827 chr17 9631616 9631616 C T rs756895822 USP43 Nonsynonymous SNV S889L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.87 202828 chr12 121001213 121001213 C T RNF10 Nonsynonymous SNV P445S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.517 202829 chr14 60977843 60977843 T G rs45549246 SIX6 Nonsynonymous SNV L205R 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.06 202830 chr14 61115746 61115746 C T rs150550985 SIX1 Synonymous SNV A54A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.18 202831 chr10 70986995 70986995 C T rs768438980 HKDC1 Synonymous SNV S32S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.71 202832 chr6 107956280 107956282 GCC - rs797046000 SOBP P751del 0.002 0 0 0 2 0 0 0 0 0 0 0 202833 chr18 12635065 12635065 G A SPIRE1 Nonsynonymous SNV T123I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.57 202834 chr3 183959650 183959650 G A VWA5B2 Nonsynonymous SNV D967N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 202835 chr19 45322903 45322903 G C rs749751982 BCAM Synonymous SNV L561L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 202836 chr19 4682778 4682778 C T rs772798495 DPP9 Nonsynonymous SNV V802I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.904 202837 chr3 186459594 186459594 G T rs746688936 KNG1 Nonsynonymous SNV G470V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 202838 chr6 117662464 117662464 C T rs147104879 ROS1 Nonsynonymous SNV C1638Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 202839 chr3 186917864 186917864 C T LOC101929106 0 0.003 0 0 0 1 0 0 0 0 0 0 8.161 202840 chr19 47653496 47653496 G A rs551660474 SAE1 Nonsynonymous SNV R83H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 202841 chr17 8660602 8660602 G A rs111535957 SPDYE4 Synonymous SNV H106H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.349 202842 chr17 46670931 46670931 A T rs761215874 HOXB5 Synonymous SNV A38A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.883 202843 chr12 132547076 132547093 CAGCAGCAGCAGCAACAA - rs764406720 EP400 Q2743_Q2748del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 202844 chr12 132547111 132547111 G A rs554589559 EP400 Synonymous SNV Q2733Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.004 202845 chr6 138817475 138817475 G A rs767346082 NHSL1 Nonsynonymous SNV T31I 0.003 0 0 0 3 0 0 0 0 0 0 0 30 202846 chr18 21662908 21662908 C T rs150902504 TTC39C Nonsynonymous SNV R283C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 202847 chr14 77910631 77910631 T C rs148623263 VIPAS39 Synonymous SNV E137E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.312 202848 chr19 50100190 50100190 C T rs768055634 PRR12 Synonymous SNV P866P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.919 202849 chr12 15035104 15035104 C A MGP Nonsynonymous SNV R94L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 202850 chr19 50189932 50189932 G A rs149767260 PRMT1 Synonymous SNV T241T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.26 202851 chr19 50360348 50360348 C T rs752701663 PTOV1 Synonymous SNV F225F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 202852 chr17 4892219 4892219 C - rs765866358 INCA1 G124Afs*108 0.001 0 0 0 1 0 0 0 0 0 0 0 202853 chr19 50826569 50826569 C T rs2301357 KCNC3 Synonymous SNV S547S 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign/Likely benign 13.45 202854 chr18 31318998 31318998 A T ASXL3 Nonsynonymous SNV I544F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.146 202855 chr1 206241650 206241650 C T rs115353955 RHEX Nonsynonymous SNV A47T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.076 202856 chr14 93712551 93712551 C T rs190609675 BTBD7 Nonsynonymous SNV V384I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 202857 chr18 43604634 43604634 C T rs2289264 PSTPIP2 Synonymous SNV R51R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.48 202858 chr19 5221088 5221088 G A rs771781407 PTPRS Synonymous SNV P695P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.139 202859 chr4 8582941 8582941 G A rs570019246 GPR78 Nonsynonymous SNV A78T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.696 202860 chr16 29842295 29842295 G A rs1019047943 MVP Synonymous SNV L74L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 202861 chr6 168377035 168377035 T C rs764371699 HGC6.3 Nonsynonymous SNV M100V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.789 202862 chr6 168377050 168377050 - T rs773260554 HGC6.3 Frameshift insertion H95Tfs*49 0.002 0.003 0 0 2 1 0 0 0 0 0 0 202863 chr18 9255173 9255173 A G rs757358542 ANKRD12 Synonymous SNV S613S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.478 202864 chr17 6978504 6978504 G A rs146480775 CLEC10A Nonsynonymous SNV H247Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 202865 chr4 17711028 17711028 C T FAM184B Synonymous SNV L127L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 202866 chr16 30964971 30964971 - GTG rs376871324 ORAI3 G236_A237insG 0.001 0 0 1 1 0 0.003 0 0 0 0 0 202867 chr17 71391348 71391348 C T rs757141765 SDK2 Nonsynonymous SNV A1180T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 202868 chr16 31104175 31104175 C T rs370105350 VKORC1 Nonsynonymous SNV R99H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.132 202869 chr16 31230812 31230812 C T rs139612395 TRIM72 Nonsynonymous SNV A230V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 202870 chr16 31332890 31332890 C T rs1143681 ITGAM Synonymous SNV A648A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 14.28 202871 chr7 4899725 4899725 T C rs373648799 PAPOLB Nonsynonymous SNV T573A 0.003 0 0 0 4 0 0 0 0 0 0 0 0.908 202872 chr15 42133049 42133049 G A rs764918358 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV A99A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.18 202873 chr11 10581431 10581431 C T rs117484197 LYVE1 Synonymous SNV T238T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.03 202874 chr15 42156001 42156001 A G rs369529661 SPTBN5 Synonymous SNV H2350H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.845 202875 chr19 1109517 1109517 G A SBNO2 Synonymous SNV Y1011Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.311 202876 chr4 40104294 40104294 G C rs76438214 N4BP2 Nonsynonymous SNV A277P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.71 202877 chr15 42479559 42479559 C T rs755120013 VPS39 Synonymous SNV G148G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.56 202878 chr19 10077398 10077398 G A COL5A3 Synonymous SNV L1495L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 202879 chr19 5688195 5688195 G C HSD11B1L Nonsynonymous SNV G232R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.869 202880 chr4 42145545 42145545 G A rs372336500 BEND4 Synonymous SNV D318D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.79 202881 chr4 42895499 42895499 G T rs925650890 GRXCR1 Nonsynonymous SNV E72D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.066 202882 chr19 572671 572671 C G rs201850688 BSG Nonsynonymous SNV L13V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.553 202883 chr19 11326585 11326585 G A rs112911897 DOCK6 Nonsynonymous SNV R1305C 0.006 0.003 0.003 0 7 1 0 1 0 0 0 0 Benign/Likely benign 33 202884 chr19 11465265 11465267 GGC - rs534702160 CCDC159 G261_H262delinsD 0.002 0.005 0 0 2 2 0 0 0 0 0 0 202885 chr19 11465270 11465287 CAGTGCCTGAGCCCTCCA - rs539681039 CCDC159 Q263_P268del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 202886 chr17 7612040 7612040 G A EFNB3 Nonsynonymous SNV G199E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.57 202887 chr11 118769575 118769575 G C rs189893252 BCL9L Nonsynonymous SNV P1350R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.29 202888 chr17 76972089 76972089 C T rs11548453 LGALS3BP Nonsynonymous SNV E68K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 202889 chr19 8206710 8206710 C A rs201984325 FBN3 Nonsynonymous SNV Q252H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 202890 chr19 13873477 13873477 C T rs780497061 CCDC130 Synonymous SNV S117S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 202891 chr19 14139137 14139137 C T rs146486931 RLN3 Stop gain R41X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 36 202892 chr19 8578071 8578071 G A rs571765621 ZNF414 Nonsynonymous SNV P53L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 202893 chr12 7045897 7045897 - CAGCAGCAG ATN1 Q502_H503insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 202894 chr4 100443768 100443768 A G rs941402696 C4orf17 Nonsynonymous SNV N80S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 202895 chr17 8049782 8049782 C T rs561768572 PER1 Nonsynonymous SNV R649H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 202896 chr12 9020892 9020892 G C rs1052149878 A2ML1 Nonsynonymous SNV G843R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.762 202897 chr4 114278128 114278128 C T rs145895389 ANK2 Nonsynonymous SNV S2785L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 3.781 202898 chr18 12702506 12702506 G A rs778697314 CEP76 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 202899 chr11 18044373 18044373 T C TPH1 Nonsynonymous SNV S378G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 202900 chr4 125599867 125599867 G C rs781102375 ANKRD50 Nonsynonymous SNV R57G 0 0.003 0 0 0 1 0 0 0 0 0 0 30 202901 chr12 988990 988990 G A rs763000812 WNK1 Synonymous SNV T875T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 9.641 202902 chr1 11007881 11007881 G T rs56112003 C1orf127 Nonsynonymous SNV L632I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.008 202903 chr18 21478966 21478966 C T rs775241363 LAMA3 Nonsynonymous SNV R316W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.1 202904 chr19 19375600 19375600 A C rs141184770 TM6SF2 Nonsynonymous SNV F336C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 202905 chr4 130027768 130027768 A G rs778950276 C4orf33 Nonsynonymous SNV I70V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 202906 chr4 144617804 144617804 A C rs533374901 FREM3 Nonsynonymous SNV L1342R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 202907 chr4 148800462 148800462 A G rs776500630 ARHGAP10 Synonymous SNV P304P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.937 202908 chr17 10248801 10248801 C T MYH13 Nonsynonymous SNV G466S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 202909 chr13 110436038 110436038 A G rs1017628433 IRS2 Nonsynonymous SNV L788P 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.156 202910 chr1 112999339 112999339 A G rs12137578 CTTNBP2NL Nonsynonymous SNV S409G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.173 202911 chr13 113219444 113219444 T C rs377093438 TUBGCP3 Nonsynonymous SNV H78R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 202912 chr1 11708786 11708786 G A rs763877988 FBXO2 Nonsynonymous SNV R286W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 202913 chr18 43619949 43619949 T C rs143653508 PSTPIP2 Nonsynonymous SNV K33R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 202914 chr19 33406311 33406311 T A rs61745862 CEP89 Nonsynonymous SNV E499D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.761 202915 chr1 118581934 118581934 C T rs558524286 SPAG17 Synonymous SNV E1100E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.787 202916 chr13 23929797 23929797 T C rs147412202 SACS Synonymous SNV L171L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.019 202917 chr19 38573476 38573476 T A SIPA1L3 Nonsynonymous SNV L424Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.7 202918 chr4 184587475 184587475 G C rs60142264 TRAPPC11 Synonymous SNV L90L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.76 202919 chr4 184596331 184596331 G A rs73872657 TRAPPC11 Synonymous SNV R225R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.91 202920 chr1 150312945 150312945 A G rs782280585 PRPF3 Nonsynonymous SNV N425S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 202921 chr19 40433352 40433352 T C rs201528031 FCGBP Nonsynonymous SNV Y306C 0.003 0.003 0 7 4 1 0.018 0 0 0 0 0 24.2 202922 chr19 4047866 4047871 CGTCCT - rs779810988 ZBTB7A E545_D546del 0.002 0 0 0 2 0 0 0 0 0 0 0 202923 chr13 36382434 36382434 A G DCLK1 Nonsynonymous SNV L290P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 202924 chr1 151811298 151811298 C - C2CD4D L57Sfs*182 0 0 0.007 0 0 0 0 2 0 0 0 0 202925 chr13 37600351 37600351 C T rs772832013 SUPT20H Nonsynonymous SNV D401N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 202926 chr19 41622124 41622124 C T rs977363262 CYP2F1 Synonymous SNV L11L 0.003 0 0 3 4 0 0.008 0 0 0 0 0 9.733 202927 chr1 153910256 153910256 G A DENND4B Synonymous SNV I694I 0 0 0.007 0 0 0 0 2 0 0 0 0 14.24 202928 chr1 154116051 154116051 T C NUP210L Nonsynonymous SNV T115A 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 202929 chr19 37677161 37677161 A C ZNF585B Nonsynonymous SNV I426M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.311 202930 chr18 65181535 65181535 T C rs970919196 DSEL Nonsynonymous SNV Y104C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 202931 chr18 67508495 67508495 C T rs76231229 DOK6 Nonsynonymous SNV S291L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.45 202932 chr19 38230182 38230182 T C rs141239620 ZNF573 Synonymous SNV Q315Q 0.003 0.003 0.007 3 4 1 0.008 2 0 0 0 0 2.07 202933 chr18 6976068 6976068 G A rs148287322 LAMA1 Synonymous SNV A2119A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 16.79 202934 chr1 156255560 156255560 G A rs140033065 TMEM79 Synonymous SNV P181P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.289 202935 chr1 156437965 156437965 C T rs774822042 MEF2D Synonymous SNV V451V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.93 202936 chr5 16451881 16451881 A T rs200285034 ZNF622 Nonsynonymous SNV M440K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.624 202937 chr13 80911717 80911717 A G rs772271382 SPRY2 Nonsynonymous SNV S42P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 202938 chr5 33947401 33947401 G A rs149980670 SLC45A2 Nonsynonymous SNV T412M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 202939 chr1 159923920 159923920 G A SLAMF9 Nonsynonymous SNV A3V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 202940 chr5 35667268 35667268 G A rs139580877 SPEF2 Nonsynonymous SNV R421H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 23.2 202941 chr19 10335403 10335403 C T rs3745268 S1PR2 Nonsynonymous SNV R60Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.5 202942 chr1 160718155 160718155 G A rs138576709 SLAMF7 Nonsynonymous SNV R76H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.372 202943 chr7 138281183 138281183 T G SVOPL Nonsynonymous SNV E330D 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 202944 chr1 161205649 161205649 T C rs752198862 NR1I3 Nonsynonymous SNV M47V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 202945 chr14 102898188 102898188 G A rs139710994 TECPR2 Synonymous SNV A380A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.12 202946 chr7 140048445 140048445 G A rs73472776 SLC37A3 Synonymous SNV Y254Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 9.766 202947 chr19 47844475 47844475 C T C5AR2 Nonsynonymous SNV A140V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 3.566 202948 chr19 48198317 48198317 C T rs566879134 BICRA Nonsynonymous SNV P1019L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 15.52 202949 chr19 44471333 44471333 G A rs147168648 ZNF221 Nonsynonymous SNV R560Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 202950 chr19 13051158 13051158 C T rs143370494 CALR Synonymous SNV D198D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 202951 chr19 14194131 14194131 G - rs779526443 C19orf67 R229Afs*63 0.003 0 0 0 4 0 0 0 0 0 0 0 202952 chr19 49129483 49129483 C T rs370483434 SPHK2 Synonymous SNV R89R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.37 202953 chr1 169796880 169796880 A G rs201673352 C1orf112 Synonymous SNV Q19Q 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 7.266 202954 chr1 170129739 170129739 G A rs189142849 METTL11B Nonsynonymous SNV V79I 0 0 0.007 0 0 0 0 2 0 0 0 0 24.3 202955 chr20 18374950 18374950 C G rs749449313 DZANK1 Synonymous SNV L385L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.682 202956 chr14 21570241 21570241 G A TMEM253 Nonsynonymous SNV V80I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.174 202957 chr19 45815180 45815180 T C CKM 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 202958 chr5 83476254 83476254 A G rs151132765 EDIL3 Synonymous SNV V94V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.969 202959 chr1 185276159 185276159 T A rs777709156 IVNS1ABP Nonsynonymous SNV E215V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 202960 chr17 4510777 4510777 G A rs150120447 SMTNL2 Nonsynonymous SNV E461K 0.006 0.005 0 4 7 2 0.01 0 0 0 0 0 Likely benign 31 202961 chr14 31355288 31355288 G A rs772383772 COCH Nonsynonymous SNV R416H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 202962 chr1 190068080 190068080 G A rs751599988 BRINP3 Nonsynonymous SNV R355C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 202963 chr20 34085762 34085762 - CCAGGC rs773441064 CEP250 Q549_L550insAQ 0.001 0 0 0 1 0 0 0 0 0 0 0 202964 chr19 535840 535840 C T rs768815065 CDC34 Nonsynonymous SNV R61C 0.007 0.01 0 1 8 4 0.003 0 0 0 0 0 23 202965 chr11 58477315 58477315 A G rs149668211 GLYAT Nonsynonymous SNV M272T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.31 202966 chr16 780636 780636 G A CIAO3 Synonymous SNV G404G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.538 202967 chr19 51135904 51135904 C T rs145378162 SYT3 Nonsynonymous SNV G105R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 202968 chr1 204923427 204923427 G A rs202239718 NFASC Synonymous SNV P103P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.645 202969 chr5 131822289 131822289 G C IRF1 Synonymous SNV G168G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.067 202970 chr1 205238158 205238158 C T rs137961859 TMCC2 Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.174 202971 chr5 134076880 134076880 T A CAMLG Synonymous SNV G100G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.41 202972 chr5 134345085 134345085 G A CATSPER3 Nonsynonymous SNV E281K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.341 202973 chr5 137710821 137710821 G A rs200210098 KDM3B Nonsynonymous SNV V134M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 202974 chr19 33693791 33693791 G C LRP3 Synonymous SNV R53R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 202975 chr5 139231268 139231268 G A rs765748611 NRG2 Synonymous SNV L499L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 202976 chr1 215793827 215793827 A G KCTD3 Nonsynonymous SNV Y770C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 202977 chr5 140515123 140515123 C G PCDHB5 Nonsynonymous SNV P36R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 202978 chr17 65714128 65714128 T C rs766667345 NOL11 Nonsynonymous SNV L22P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.75 202979 chr11 63594405 63594405 C G rs151101840 SPINDOC Nonsynonymous SNV P314A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 202980 chr19 36357157 36357157 C A rs370417396 KIRREL2 Synonymous SNV P580P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 202981 chr17 6928019 6928019 - CAGCAGCAG BCL6B S244_E245insSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 202982 chr19 55743537 55743537 G A rs768122943 PPP6R1 Synonymous SNV D677D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.703 202983 chr8 100493987 100493987 C T rs567003932 VPS13B Nonsynonymous SNV T1276I 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 Likely benign 22.5 202984 chr19 56319271 56319271 T C rs771617298 NLRP11 Nonsynonymous SNV R552G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.016 202985 chr17 18156980 18156980 G C rs141022280 FLII Nonsynonymous SNV L191V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 202986 chr1 236719442 236719442 G A rs146784097 HEATR1 Synonymous SNV P1824P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.498 202987 chr19 56701754 56701754 C A rs138952005 ZSCAN5B Nonsynonymous SNV E310D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.018 202988 chr5 156769896 156769896 C T rs757500549 FNDC9 Nonsynonymous SNV A217T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 202989 chr1 23757529 23757529 G T rs137927599 ASAP3 Nonsynonymous SNV P870Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.29 202990 chr5 159821303 159821303 C A ZBED8 Nonsynonymous SNV V399L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.86 202991 chr19 42796473 42796473 G A rs148075505 CIC Synonymous SNV A1010A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 202992 chr19 57705254 57705254 C A ZNF264 Synonymous SNV T15T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.91 202993 chr5 167891837 167891837 A T WWC1 Nonsynonymous SNV Q1013L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 202994 chr1 245319726 245319726 C G rs761735254 KIF26B Nonsynonymous SNV P69R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 202995 chr19 57889374 57889374 A G ZNF547 Nonsynonymous SNV R344G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 202996 chr17 26945905 26945905 A G rs142089703 KIAA0100 Synonymous SNV T1766T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 202997 chr17 26960014 26960014 G A rs138787052 KIAA0100 Nonsynonymous SNV R1108C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 202998 chr17 27426753 27426753 G A rs115267475 MYO18A Nonsynonymous SNV R1179W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 28.4 202999 chr17 30219811 30219811 G A rs144023831 UTP6 Synonymous SNV D105D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 203000 chr19 6921723 6921723 G A rs78802323 ADGRE1 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 203001 chr19 45783985 45783985 C T rs781523807 MARK4 Synonymous SNV S423S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 203002 chr19 7607769 7607769 C T rs199903577 PNPLA6 Synonymous SNV I495I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 15.57 203003 chr6 348891 348891 G A rs781137701 DUSP22 Synonymous SNV R186R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 203004 chr19 46205071 46205071 G A rs373561307 QPCTL Nonsynonymous SNV R207H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 203005 chr6 3077059 3077059 T A RIPK1 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 203006 chr19 47653631 47653631 C G rs773468213 SAE1 Nonsynonymous SNV A128G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 203007 chr11 9165760 9165760 C T DENND5A Nonsynonymous SNV G1039E 0 0 0 1 0 0 0.003 0 0 0 0 0 34 203008 chr1 29475415 29475415 C T rs755459699 SRSF4 Nonsynonymous SNV R331Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 203009 chr19 8563771 8563771 C A PRAM1 Nonsynonymous SNV K307N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 203010 chr6 12122180 12122180 A G rs762452821 HIVEP1 Nonsynonymous SNV T718A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 203011 chr6 13365739 13365739 C G GFOD1 Nonsynonymous SNV E34Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 203012 chr1 32165530 32165530 G A rs201657074 COL16A1 Synonymous SNV G50G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.23 203013 chr19 49611476 49611476 C T SNRNP70 Nonsynonymous SNV R355W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 203014 chr18 10758097 10758097 G C rs188320964 PIEZO2 Nonsynonymous SNV R1240G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.2 203015 chr15 55931851 55931851 C A PRTG Synonymous SNV L771L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.46 203016 chr1 36552372 36552372 G A rs781648396 TEKT2 Nonsynonymous SNV D186N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 203017 chr1 36941231 36941231 G A rs3918011 CSF3R Synonymous SNV V36V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.449 203018 chr1 38005844 38005844 C T rs748638607 SNIP1 Synonymous SNV A280A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 203019 chr9 8507366 8507366 G A rs141604755 PTPRD Nonsynonymous SNV P528S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24 203020 chr15 63069043 63069043 C T rs374140330 TLN2 Synonymous SNV N1816N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.98 203021 chr1 1141766 1141766 C T rs540452606 TNFRSF18 Synonymous SNV P62P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.321 203022 chr19 9057551 9057551 A G MUC16 Synonymous SNV A9965A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.67 203023 chr19 9062043 9062043 G A MUC16 Nonsynonymous SNV T8468I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.921 203024 chr12 109017773 109017773 G A rs147444406 SELPLG Nonsynonymous SNV T120M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.03 203025 chr19 51767349 51767352 GTAA - rs761373555 SIGLECL1 0.002 0 0 0 2 0 0 0 0 0 0 0 203026 chr1 43352917 43352917 - CGTCTCCTCT rs140489298 LOC339539 0 0 0.027 0 0 0 0 8 0 0 4 0 203027 chr17 39661626 39661626 A G rs142246675 KRT13 Synonymous SNV S59S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.109 203028 chr1 43896760 43896760 C T rs753322092 SZT2 Nonsynonymous SNV R1582W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 203029 chr19 52196962 52196962 C T rs1023641652 SPACA6 Synonymous SNV A61A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.703 203030 chr1 44482775 44482775 C T rs199577336 SLC6A9 Nonsynonymous SNV A11T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 203031 chr19 9362445 9362445 C T rs146858978 OR7E24 Synonymous SNV P242P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.56 203032 chr1 46463467 46463467 C T rs763839590 MAST2 Nonsynonymous SNV R61C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 203033 chr19 9971394 9971394 G A rs751800583 OLFM2 Nonsynonymous SNV T71M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 203034 chr17 41062939 41062939 T C G6PC Nonsynonymous SNV C165R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.004 203035 chr1 46901630 46901630 G A rs747011758 FAAHP1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 203036 chr1 145536889 145536889 G A ITGA10 Nonsynonymous SNV V614M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 203037 chr19 53304321 53304321 T G rs140737004 ZNF28 Synonymous SNV A206A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.751 203038 chr6 38840828 38840828 G A rs201809379 DNAH8 Nonsynonymous SNV V2245I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.7 203039 chr1 54507458 54507458 G A rs745709277 TMEM59 Synonymous SNV Y121Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 203040 chr12 121177159 121177159 C T rs28940872 ACADS Nonsynonymous SNV R383C 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Pathogenic/Likely pathogenic 32 203041 chr1 151260054 151260054 G C rs142862333 ZNF687 Synonymous SNV G429G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.071 203042 chr1 151502966 151502966 C G rs144143337 CGN Nonsynonymous SNV A772G 0.003 0.005 0.007 0 4 2 0 2 0 0 0 0 18.31 203043 chr6 42796259 42796259 G A rs185904212 BICRAL Nonsynonymous SNV G63D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.313 203044 chr1 57480740 57480740 C T DAB1 Nonsynonymous SNV M420I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 203045 chr6 42985594 42985594 C T rs146612356 KLHDC3 Nonsynonymous SNV T112M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 203046 chr12 124323203 124323203 C T rs201206911 DNAH10 Synonymous SNV S1583S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 203047 chr1 113246329 113246329 C T rs372772606 RHOC Synonymous SNV P31P 0.003 0 0 0 4 0 0 0 0 0 0 0 19.11 203048 chr12 124363874 124363874 - CGGCTGATCAGTGAAACAGACAAG DNAH10 K2702_Q2703insRLISETDK 0 0 0 1 0 0 0.003 0 0 0 0 0 203049 chr1 64021186 64021186 A G EFCAB7 Nonsynonymous SNV K405R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.461 203050 chr6 44185310 44185310 C G rs569049826 MYMX Synonymous SNV R34R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 17.62 203051 chr19 55738864 55738864 G A rs61742119 TMEM86B Synonymous SNV P121P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.688 203052 chr17 48614041 48614041 G A rs143210632 EPN3 Nonsynonymous SNV E42K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 203053 chr19 55785929 55785929 C T rs141770023 HSPBP1 Synonymous SNV A205A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 203054 chr19 55967028 55967028 C G rs771065603 ISOC2 Nonsynonymous SNV G108A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 203055 chr19 55997930 55997930 C T rs377549489 NAT14 Synonymous SNV A76A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.909 203056 chr19 56001274 56001274 C T rs147939830 SSC5D Synonymous SNV D129D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 203057 chr19 56012482 56012482 C T rs377664229 SSC5D Nonsynonymous SNV A900V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 203058 chr19 56127834 56127834 C T rs189616162 ZNF865 Synonymous SNV H950H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.764 203059 chr15 90447114 90447114 C T rs61731919 ARPIN, ARPIN-AP3S2 Nonsynonymous SNV D135N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.747 203060 chr1 8384780 8384780 A G SLC45A1 Nonsynonymous SNV I165V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 203061 chr19 56369778 56369778 T G rs75206043 NLRP4 Nonsynonymous SNV I340S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.258 203062 chr6 55264036 55264036 - A rs527905870 GFRAL Frameshift insertion I339Nfs*36 0 0.005 0.003 0 0 2 0 1 0 0 0 0 203063 chr19 56719903 56719903 C G rs112388036 ZSCAN5C Nonsynonymous SNV C275W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 203064 chr19 56720302 56720302 C T rs146341006 ZSCAN5C Synonymous SNV G408G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 203065 chr15 99486171 99486171 T C rs562799543 IGF1R Synonymous SNV D1159D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 6.178 203066 chr1 158612332 158612332 T C SPTA1 Nonsynonymous SNV R1536G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 203067 chr1 158627472 158627472 G T rs115877891 SPTA1 Nonsynonymous SNV A867E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 203068 chr16 11017111 11017111 G A rs138790505 CIITA Nonsynonymous SNV S531N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 19.12 203069 chr1 9085047 9085047 G A rs144930725 SLC2A7 Synonymous SNV N46N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.421 203070 chr6 75823016 75823016 C G rs190984968 COL12A1 Synonymous SNV T1454T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 15.18 203071 chr1 159141605 159141605 G A rs757529773 CADM3 Nonsynonymous SNV C17Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 203072 chr19 10677917 10677917 G A rs368480610 CDKN2D Synonymous SNV T106T 0.005 0 0 0 6 0 0 0 0 0 0 0 11.07 203073 chr6 76640833 76640833 C T rs778381530 IMPG1 Nonsynonymous SNV G616S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.77 203074 chr1 15976315 15976315 C T DDI2 Synonymous SNV H330H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 203075 chr1 92495835 92495835 T A rs765145584 EPHX4 Nonsynonymous SNV S67T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.506 203076 chr12 26275428 26275428 G A BHLHE41 Synonymous SNV P340P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.45 203077 chr6 86333786 86333786 G A SYNCRIP Synonymous SNV C139C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 203078 chr1 95303282 95303282 A G rs376321020 SLC44A3 Synonymous SNV L139L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.181 203079 chr16 14345801 14345801 A C MRTFB Nonsynonymous SNV N818T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.7 203080 chr6 111695115 111695115 T C rs144876851 REV3L Synonymous SNV L1481L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.082 203081 chr6 111803963 111803963 C G REV3L Synonymous SNV A43A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.42 203082 chr19 15273325 15273325 G A rs574900839 NOTCH3 Nonsynonymous SNV T1955I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 203083 chr6 112528337 112528337 G A rs138176093 LAMA4 Nonsynonymous SNV R103W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 21.2 203084 chr16 22260085 22260085 C T rs200700399 EEF2K Synonymous SNV A119A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 203085 chr20 31196149 31196149 C T NOL4L-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 203086 chr19 831876 831876 - G rs764221987 AZU1 X252delinsX 0.001 0 0 0 1 0 0 0 0 0 0 0 203087 chr19 8400253 8400253 G A KANK3 Nonsynonymous SNV P153L 0.002 0 0 0 2 0 0 0 1 0 0 0 15.52 203088 chr16 2988326 2988326 G A rs200747488 FLYWCH1 Nonsynonymous SNV R640H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 203089 chr1 159897161 159897161 G T IGSF9 Nonsynonymous SNV H1172N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 203090 chr19 18272777 18272777 A T rs147990742 PIK3R2 Nonsynonymous SNV S273C 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign/Likely benign 9.387 203091 chr1 182025845 182025845 T C rs778272663 ZNF648 Nonsynonymous SNV N434S 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 22.6 203092 chr6 146243968 146243968 G A rs148401398 SHPRH Nonsynonymous SNV R1184C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 203093 chr1 161954049 161954049 A G rs200652136 OLFML2B Nonsynonymous SNV Y558H 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 27.2 203094 chr6 150184696 150184696 G - LRP11 P154Rfs*76 0 0.003 0 0 0 1 0 0 0 0 0 0 203095 chr1 16462157 16462157 C T rs988452109 EPHA2 Nonsynonymous SNV R420H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 203096 chr20 40050020 40050020 G A rs370125062 CHD6 Nonsynonymous SNV A1752V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 203097 chr1 19584465 19584465 C T rs142730134 MRTO4 Synonymous SNV T160T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 203098 chr19 23406672 23406672 C T ZNF724 Synonymous SNV V125V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.906 203099 chr6 157099426 157099426 - GCAG ARID1B Frameshift insertion Q122Afs*111 0 0.003 0.003 0 0 1 0 1 0 0 0 0 203100 chr1 172501862 172501862 A G rs191432816 SUCO Nonsynonymous SNV R84G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.144 203101 chr20 50408399 50408399 G A rs766218657 SALL4 Nonsynonymous SNV A208V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 203102 chr17 79687135 79687135 G A rs370778020 SLC25A10 Nonsynonymous SNV R270K 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 7.149 203103 chr6 160113661 160113661 G A SOD2 Synonymous SNV V86V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.345 203104 chr20 55948625 55948625 A G rs200250805 RAE1 Nonsynonymous SNV N246S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 203105 chr17 79977215 79977215 G A rs75826554 CENPX Nonsynonymous SNV A44V 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 5.48 203106 chr1 17708473 17708473 C A PADI6 Nonsynonymous SNV L189M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 203107 chr6 160662606 160662606 G A rs150129033 SLC22A2 Synonymous SNV V467V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.109 203108 chr1 177247901 177247901 C A BRINP2 Synonymous SNV R405R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 16.43 203109 chr20 57045791 57045791 G A rs112628550 APCDD1L Nonsynonymous SNV P21L 0 0 0.014 0 0 0 0 4 0 0 1 0 6.291 203110 chr20 57045796 57045796 A G rs113379816 APCDD1L Synonymous SNV T19T 0 0 0.014 0 0 0 0 4 0 0 1 0 0.028 203111 chr20 57226903 57226903 G A rs368572667 STX16-NPEPL1 0 0 0.014 0 0 0 0 4 0 0 1 0 Likely benign 8.477 203112 chr6 168431473 168431473 C T rs146495006 KIF25 Nonsynonymous SNV S38F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 203113 chr6 169634930 169634930 C T rs147571235 THBS2 Nonsynonymous SNV R517H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 203114 chr1 207139193 207139193 G A rs369525141 FCAMR Synonymous SNV F60F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.095 203115 chr16 66951619 66951619 T G rs45583640 CDH16 Nonsynonymous SNV K19Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.381 203116 chr1 209796480 209796480 G A rs115279528 LAMB3 Synonymous SNV C801C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.257 203117 chr18 21116665 21116665 C T rs141440861 NPC1 Nonsynonymous SNV G1073S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.98 203118 chr18 211194 211194 G T rs74479856 USP14 Synonymous SNV R430R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.932 203119 chr18 224131 224131 G A rs80319001 THOC1 Synonymous SNV P419P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.34 203120 chr7 2686621 2686621 G C rs772025387 TTYH3 Synonymous SNV T86T 0 0.005 0 0 0 2 0 0 0 0 0 0 12.63 203121 chr20 62195135 62195135 G A rs374645950 HELZ2 Synonymous SNV D1111D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.823 203122 chr12 75785070 75785070 G T GLIPR1L2 Synonymous SNV V58V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.47 203123 chr1 216270500 216270500 T C USH2A Synonymous SNV A1561A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.286 203124 chr18 32470324 32470324 C T DTNA Nonsynonymous SNV R699C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 203125 chr1 196963258 196963258 - AA rs886045749 CFHR5 Frameshift insertion E163Kfs*10 0.002 0 0 1 2 0 0.003 0 0 0 0 0 203126 chr21 30968674 30968674 G T rs200901904 GRIK1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 3.469 203127 chr12 88582688 88582688 G A rs368224038 TMTC3 Nonsynonymous SNV E270K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 203128 chr7 20441419 20441419 A G rs141933396 ITGB8 Nonsynonymous SNV I453V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.108 203129 chr19 40520050 40520050 T A rs373816048 ZNF546 Nonsynonymous SNV H265Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 203130 chr21 38117079 38117079 C G rs766430136 SIM2 Nonsynonymous SNV N406K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 203131 chr21 41450777 41450777 A C rs201602690 DSCAM Nonsynonymous SNV F1516L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.847 203132 chr7 30921863 30921863 T A MINDY4 Nonsynonymous SNV I680N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 203133 chr1 228526012 228526012 G A rs763542950 OBSCN Nonsynonymous SNV A5675T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 203134 chr16 88799048 88799048 C T rs759014278 PIEZO1 Synonymous SNV V919V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.85 203135 chr1 231665034 231665034 A G rs144584692 TSNAX Nonsynonymous SNV N17S 0.007 0.003 0 0 8 1 0 0 0 0 0 0 Benign 10.71 203136 chr19 44635761 44635761 A T rs759087212 ZNF225 Nonsynonymous SNV N332Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.78 203137 chr7 44796039 44796039 A G rs201139620 ZMIZ2 Synonymous SNV A22A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.177 203138 chr1 215759981 215759981 G A rs145226766 KCTD3 Nonsynonymous SNV S257N 0.003 0 0 0 3 0 0 0 0 0 0 0 23 203139 chr16 89922071 89922071 C T rs201202825 SPIRE2 Nonsynonymous SNV R319C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 35 203140 chr1 236180504 236180504 G T rs141204959 NID1 Nonsynonymous SNV T733N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 28.8 203141 chr21 47738043 47738043 C T rs368292511 C21orf58 Synonymous SNV R64R 0 0 0.007 0 0 0 0 2 0 0 0 0 9.927 203142 chr19 45394819 45394819 T G rs11556510 TOMM40 Nonsynonymous SNV S49R 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 0.092 203143 chr1 218504375 218504375 A G RRP15 Nonsynonymous SNV K264R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 203144 chr17 11778326 11778326 G A rs765611046 DNAH9 Nonsynonymous SNV V3435M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 203145 chr22 19951351 19951351 T G rs11569721 MIR4761 0 0 0.003 0 0 0 0 1 0 0 0 0 3.304 203146 chr19 47234034 47234034 C T rs543353158 STRN4 Synonymous SNV E278E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.56 203147 chr1 227171881 227171881 T C rs750053661 COQ8A Nonsynonymous SNV V448A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.26 203148 chr7 82580798 82580798 T C PCLO Nonsynonymous SNV M3036V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.242 203149 chr22 24179334 24179334 C T rs117846678 DERL3 Synonymous SNV A177A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.39 203150 chr22 28194661 28194661 - GCG rs558159135 MN1 P623_H624insP 0 0 0.003 0 0 0 0 1 0 0 0 0 203151 chr1 22924681 22924681 C T rs774371519 EPHA8 Synonymous SNV N718N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 203152 chr22 30951045 30951045 G A rs531872969 GAL3ST1 Synonymous SNV L389L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.692 203153 chr1 23111219 23111219 G A EPHB2 Nonsynonymous SNV G154D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 203154 chr19 50104890 50104890 A T rs369659675 PRR12 Synonymous SNV P1496P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.239 203155 chr7 99621198 99621198 C T rs767802425 ZKSCAN1 Synonymous SNV I23I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.69 203156 chr1 169565259 169565259 A G rs759995966 SELP Nonsynonymous SNV Y669H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.777 203157 chr19 50376316 50376316 C A rs201267986 AKT1S1 Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 203158 chr10 105152225 105152226 TT - rs113222911 ATP5MD 0.001 0 0 0 1 0 0 0 0 0 0 0 203159 chr19 50662800 50662800 C T rs766330043 IZUMO2 Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.164 203160 chr1 24996617 24996617 T C rs146544792 SRRM1 Synonymous SNV A652A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.62 203161 chr1 235972289 235972289 T A rs145298434 LYST Nonsynonymous SNV H610L 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 15.44 203162 chr1 171607856 171607856 G A rs61753850 MYOC Nonsynonymous SNV T204M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 0.936 203163 chr17 28407188 28407188 T A EFCAB5 Nonsynonymous SNV N1042K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 203164 chr22 38328676 38328676 C T rs144278500 MICALL1 Synonymous SNV G711G 0 0 0.007 0 0 0 0 2 0 0 0 0 20.7 203165 chr1 26648530 26648530 G A rs140821928 CRYBG2 Nonsynonymous SNV R1639W 0.002 0 0.007 0 2 0 0 2 0 0 0 0 35 203166 chr22 39826109 39826109 C T rs774809289 TAB1 Nonsynonymous SNV P466L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 203167 chr1 33772793 33772793 G C rs369975413 A3GALT2 Nonsynonymous SNV D199E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 203168 chr10 124336153 124336153 C T rs200275337 DMBT1 Synonymous SNV H174H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.163 203169 chr1 36479316 36479316 G A AGO3 Nonsynonymous SNV R178H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 203170 chr19 18375891 18375891 C G IQCN Nonsynonymous SNV G820A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.212 203171 chr22 46761159 46761159 C T rs776567447 CELSR1 Synonymous SNV P2841P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 203172 chr22 46929702 46929702 G C rs111652796 CELSR1 Synonymous SNV G1122G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.147 203173 chr22 46931893 46931893 A G rs748635750 CELSR1 Nonsynonymous SNV V392A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 203174 chr1 38328101 38328101 - G INPP5B Stop gain S713* 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 203175 chr19 21492098 21492098 C T ZNF708 Nonsynonymous SNV G59E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.45 203176 chr1 41012357 41012357 T C rs778750302 ZNF684 Nonsynonymous SNV M121T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 203177 chr19 23328881 23328881 T C rs1042535804 ZNF730 Synonymous SNV C345C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.052 203178 chr1 42047061 42047061 C T rs200163948 HIVEP3 Synonymous SNV K1136K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 203179 chr1 42048591 42048591 G A rs765194555 HIVEP3 Synonymous SNV S626S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.917 203180 chr7 114066624 114066624 A G rs777361904 FOXP2 Nonsynonymous SNV M20V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 203181 chr7 122526216 122526216 G C rs994673329 CADPS2 Nonsynonymous SNV P59R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 203182 chr2 102984441 102984441 G T rs773834061 IL18R1 Nonsynonymous SNV S72I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.653 203183 chr1 200821707 200821707 G A rs376405211 CAMSAP2 Synonymous SNV R1152R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.39 203184 chr2 112945007 112945007 C T rs757716376 FBLN7 Nonsynonymous SNV S369L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 203185 chr7 129912997 129912997 C G CPA2 Nonsynonymous SNV R156G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 203186 chr2 113514328 113514328 C T CKAP2L Nonsynonymous SNV S42N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.087 203187 chr1 201755657 201755657 C A rs145865304 NAV1 Nonsynonymous SNV P592T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.4 203188 chr19 37005733 37005733 A G rs748460711 ZNF260 Synonymous SNV Y136Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 203189 chr1 203194216 203194216 T C CHIT1 Nonsynonymous SNV T92A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 203190 chr2 121997196 121997196 C A TFCP2L1 Nonsynonymous SNV Q266H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 203191 chr1 40887722 40887722 C T rs566017456 SMAP2 Synonymous SNV G383G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 203192 chr7 143208484 143208484 C T OR10AC1 Nonsynonymous SNV G174S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 203193 chr1 207651345 207651345 G A CR2 Synonymous SNV L947L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.867 203194 chr19 40419768 40419768 G A rs202232182 FCGBP Nonsynonymous SNV R1076W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 203195 chr19 40732498 40732498 G T rs865803118 CNTD2 Synonymous SNV I17I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.433 203196 chr7 149493759 149493759 C G rs139021276 SSPO 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.412 203197 chr19 41209448 41209448 G A rs766618659 COQ8B Nonsynonymous SNV A225V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 203198 chr17 489576 489576 G T rs766555766 VPS53 Nonsynonymous SNV P387Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.9 203199 chr1 70654810 70654810 C T rs760549538 LRRC40 Nonsynonymous SNV D100N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.7 203200 chr2 160206353 160206353 C T rs202069948 BAZ2B Nonsynonymous SNV D1541N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.66 203201 chr7 150878511 150878511 C G rs104886474 ASB10 Nonsynonymous SNV V207L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Pathogenic 23.3 203202 chr1 213303093 213303093 G A rs750324637 RPS6KC1 Synonymous SNV P220P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.713 203203 chr7 150932583 150932583 G A rs116843667 CHPF2 Nonsynonymous SNV R238H 0 0.003 0 0 0 1 0 0 0 0 0 0 22 203204 chr2 160994350 160994350 C T rs755642266 ITGB6 Nonsynonymous SNV V324M 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 203205 chr14 62213683 62213683 G C rs764342882 HIF1A Nonsynonymous SNV M811I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.85 203206 chr1 21926064 21926064 G A RAP1GAP Nonsynonymous SNV R631C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 203207 chr1 220320914 220320914 G A rs143192468 IARS2 Synonymous SNV K992K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.16 203208 chr8 1950171 1950171 C G rs755129204 KBTBD11 Synonymous SNV A271A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.272 203209 chr19 7677484 7677484 C T CAMSAP3 Nonsynonymous SNV A702V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 203210 chr1 222696000 222696000 G A HHIPL2 Synonymous SNV H706H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.282 203211 chr2 175742774 175742774 C T rs376827050 CHN1 Nonsynonymous SNV D115N 0 0 0.007 0 0 0 0 2 0 0 0 0 33 203212 chr14 65261251 65261251 T C rs144668591 SPTB Nonsynonymous SNV I577V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 203213 chr2 179417681 179417681 G A rs373311459 TTN Synonymous SNV V20917V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.107 203214 chr8 12580659 12580659 C A rs780842571 LONRF1 Synonymous SNV R745R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.25 203215 chr14 73989211 73989211 G A rs149734041 HEATR4 Stop gain R216X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 203216 chr19 8966789 8966789 C A MUC16 Synonymous SNV G14388G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 203217 chr17 65908155 65908155 T A rs138069789 BPTF Synonymous SNV T1385T 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign 0.023 203218 chr2 182780502 182780502 G A rs141071333 ITPRID2 Nonsynonymous SNV R559H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 203219 chr14 76966310 76966310 C T ESRRB Synonymous SNV S467S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.558 203220 chr3 150421612 150421614 AAC - rs760577837 ERICH6 L25del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 203221 chr19 48048684 48048684 G T ZNF541 Nonsynonymous SNV P368T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 203222 chr17 7155874 7155874 T G ELP5 Nonsynonymous SNV L18W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 203223 chr1 231376853 231376853 G A rs757563319 C1orf131 Nonsynonymous SNV S12L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 203224 chr1 23280295 23280295 C T rs555396323 LACTBL1 Synonymous SNV P327P 0.003 0 0 0 3 0 0 0 0 0 0 0 19.46 203225 chr19 48953936 48953936 C T rs770126608 GRWD1 Synonymous SNV T232T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 203226 chr19 48967512 48967512 C T rs143401327 KCNJ14 Synonymous SNV T263T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 203227 chr1 79403667 79403667 T C rs553938953 ADGRL4 Synonymous SNV V195V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.161 203228 chr1 8482797 8482797 T C rs147112611 RERE Nonsynonymous SNV N425S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.52 203229 chr1 235594073 235594073 T C rs16832611 TBCE Nonsynonymous SNV V92A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.02 203230 chr1 235596323 235596323 C T rs16832613 TBCE Synonymous SNV F241F 0.003 0 0 0 4 0 0 0 0 0 0 0 4.934 203231 chr1 235602193 235602193 A G rs16832619 TBCE Nonsynonymous SNV E296G 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 5.003 203232 chr1 235955277 235955277 G A rs200691096 LYST Nonsynonymous SNV A1422V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.6 203233 chr8 27146722 27146722 C T rs374540421 TRIM35 Nonsynonymous SNV A248T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.97 203234 chr1 23688918 23688918 G A rs772485315 ZNF436 Synonymous SNV S301S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.621 203235 chr1 237777722 237777722 C G rs564806219 RYR2 Nonsynonymous SNV S1765C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.1 203236 chr2 208993135 208993135 C T rs149859061 CRYGC Nonsynonymous SNV S106N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.54 203237 chr17 7416752 7416752 C T rs760914417 POLR2A Synonymous SNV T1723T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.803 203238 chr15 25336951 25336951 A G SNORD116-23 0 0 0 1 0 0 0.003 0 0 0 0 0 4.67 203239 chr8 61121348 61121348 T G rs200111165 CA8 Nonsynonymous SNV Q258P 0 0.003 0 0 0 1 0 0 0 0 0 0 28 203240 chr15 33261076 33261076 A C rs74012406 FMN1 Synonymous SNV P719P 0.002 0 0.007 1 2 0 0.003 2 0 0 1 0 Benign 0.002 203241 chr8 87241987 87241987 T A rs140320705 SLC7A13 Nonsynonymous SNV I174F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.6 203242 chr17 7735940 7735940 T C DNAH2 Nonsynonymous SNV L4257S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.7 203243 chr2 220432531 220432531 G C rs373882420 OBSL1 Synonymous SNV A481A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.938 203244 chr1 116937758 116937758 G C ATP1A1 Nonsynonymous SNV E563Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 203245 chr8 101271241 101271241 T C rs202025017 RNF19A Nonsynonymous SNV N687S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.88 203246 chr8 102705020 102705020 G A rs375021007 NCALD Synonymous SNV D161D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.785 203247 chr8 102731570 102731570 C T rs138595768 NCALD Synonymous SNV K96K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 203248 chr8 103667800 103667800 C G rs145058458 KLF10 Nonsynonymous SNV Q10H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.44 203249 chr20 21690068 21690068 A C rs752031765 PAX1 Nonsynonymous SNV H423P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 203250 chr11 26619953 26619953 C T rs768245304 ANO3 Synonymous SNV L351L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 14.59 203251 chr20 42198075 42198075 C T rs766205575 SGK2 Synonymous SNV H153H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.22 203252 chr17 79860363 79860363 C T NPB Synonymous SNV A70A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.83 203253 chr8 121519081 121519081 A G rs370667712 MTBP Synonymous SNV Q621Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.35 203254 chr2 234708860 234708860 C T rs146454095 MROH2A Nonsynonymous SNV R487W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 203255 chr1 149895882 149895882 T C SF3B4 Nonsynonymous SNV H313R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 203256 chr1 150238593 150238593 G C rs74126634 APH1A Nonsynonymous SNV C175W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 203257 chr1 150248200 150248200 G A rs77058850 C1orf54 Nonsynonymous SNV D33N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 203258 chr15 43531151 43531151 G A rs375801160 TGM5 Synonymous SNV C321C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.43 203259 chr15 43533062 43533062 T A rs201805126 TGM5 Nonsynonymous SNV K248M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 203260 chr15 43713277 43713277 G A rs200691218 TP53BP1 Nonsynonymous SNV T1399M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 27.7 203261 chr1 150786668 150786668 A T rs201885145 ARNT Synonymous SNV G650G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 203262 chr2 239033970 239033970 G C ESPNL Synonymous SNV T349T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.576 203263 chr17 8280943 8280943 C G RPL26 Nonsynonymous SNV R126P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 203264 chr2 239040005 239040005 G A rs535747214 ESPNL Nonsynonymous SNV E516K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 203265 chr8 133622435 133622435 G T rs765310271 LRRC6 Nonsynonymous SNV H291N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 203266 chr20 47691322 47691322 C A CSE1L Nonsynonymous SNV A300D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 203267 chr8 144695119 144695119 A G rs772266616 TSTA3 Synonymous SNV C315C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.608 203268 chr20 44006230 44006230 G A rs140358325 TP53TG5 Synonymous SNV D24D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.531 203269 chr15 64275833 64275833 G A rs375258891 DAPK2 Synonymous SNV I71I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.48 203270 chr1 156281871 156281871 G A rs766437518 CCT3 Synonymous SNV C334C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 203271 chr2 29296404 29296404 C T rs746789187 PCARE Nonsynonymous SNV V242M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 11.04 203272 chr20 46279818 46279818 - CAGCAGCAA rs756693453 NCOA3 Q1275_T1276insQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 203273 chr2 32819091 32819091 T C rs763814064 BIRC6 Nonsynonymous SNV Y4489H 0 0 0.007 0 0 0 0 2 0 0 0 0 10.94 203274 chr8 145138655 145138655 C A rs201888630 GPAA1 Synonymous SNV A135A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.18 203275 chr2 33774761 33774761 T C rs2276590 RASGRP3 Synonymous SNV H494H 0.003 0 0.034 0 4 0 0 10 0 0 0 0 5.33 203276 chr18 47376012 47376012 C T rs76213287 MYO5B Nonsynonymous SNV E1414K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 203277 chr20 61981362 61981362 G A rs45569837 CHRNA4 Synonymous SNV S467S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 1.575 203278 chr8 145661270 145661270 C T rs767466576 TONSL Nonsynonymous SNV R849H 0 0.005 0 0 0 2 0 0 0 0 0 0 15.65 203279 chr8 145676005 145676005 C A rs547439110 CYHR1 Synonymous SNV T324T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 203280 chr8 145732217 145732217 A G GPT Nonsynonymous SNV Y464C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 203281 chr9 215092 215092 G C rs982298148 DOCK8-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 15.28 203282 chr9 5080595 5080595 C T rs778634399 JAK2 Synonymous SNV N633N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 203283 chr2 54153138 54153138 G C PSME4 Nonsynonymous SNV A539G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 203284 chr2 55436919 55436919 A G rs751593091 CLHC1 Nonsynonymous SNV M43T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 203285 chr21 30325605 30325605 T C rs749379009 LTN1 Nonsynonymous SNV N1044S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.13 203286 chr2 55900177 55900177 C A PNPT1 Nonsynonymous SNV Q239H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 203287 chr2 59241468 59241468 A G rs72953402 LINC01122 0 0 0.003 0 0 0 0 1 0 0 0 0 4.85 203288 chr2 60614577 60614577 A G rs56239160 MIR4432 0 0 0.041 0 0 0 0 12 0 0 0 0 1.784 203289 chr9 18681930 18681930 G A rs370887874 ADAMTSL1 Nonsynonymous SNV V488I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.19 203290 chr2 62729584 62729584 G T rs201339749 TMEM17 Nonsynonymous SNV N102K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.8 203291 chr2 65298653 65298653 A T rs948804068 CEP68 Synonymous SNV T141T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 203292 chr21 33723203 33723203 G A rs899658461 URB1 Nonsynonymous SNV P881L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.6 203293 chr1 161010640 161010640 T G USF1 Nonsynonymous SNV T195P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.55 203294 chr21 40552313 40552313 A G rs141146603 PSMG1 Synonymous SNV G97G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 203295 chr2 74686832 74686832 C T rs144737803 WBP1 Synonymous SNV C44C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.9 203296 chr1 169510458 169510458 G A F5 Synonymous SNV S1290S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.704 203297 chr2 85924745 85924745 C T rs147680816 GNLY Synonymous SNV A124A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 203298 chr19 9064271 9064271 C G rs117784188 MUC16 Synonymous SNV P7725P 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 9.191 203299 chr19 9064277 9064277 A G rs117968098 MUC16 Synonymous SNV S7723S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.249 203300 chr19 9073527 9073527 G C rs775778562 MUC16 Nonsynonymous SNV S4640C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.103 203301 chr21 45837967 45837967 C T rs201505422 TRPM2 Nonsynonymous SNV P1102S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.3 203302 chr9 79635698 79635698 C T rs189869353 FOXB2 Synonymous SNV S376S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 203303 chr2 98378534 98378534 C T rs201851542 TMEM131 Nonsynonymous SNV G1618D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 203304 chr21 32639280 32639280 G A rs141315780 TIAM1 Synonymous SNV N3N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.828 203305 chr1 173910452 173910452 G A rs199782255 RC3H1 Nonsynonymous SNV P1068S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.22 203306 chr9 84235358 84235358 A G rs777951267 TLE1 Nonsynonymous SNV Y247H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.35 203307 chr21 46311744 46311744 G C ITGB2 Nonsynonymous SNV F464L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 203308 chr3 10084295 10084295 C T rs752880854 FANCD2 Nonsynonymous SNV P279L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 203309 chr19 9088661 9088661 A G rs117838005 MUC16 Synonymous SNV L1052L 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.045 203310 chr21 46896280 46896280 C A rs764159488 COL18A1 Nonsynonymous SNV P452T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.671 203311 chr21 47423441 47423441 C T rs200124802 COL6A1 Synonymous SNV P867P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.85 203312 chr1 86900246 86900246 A G rs372023174 CLCA2 Nonsynonymous SNV N264D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 203313 chr11 59603299 59603299 C T rs771992791 CBLIF Nonsynonymous SNV R352H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 24.2 203314 chr3 110791283 110791283 G T rs529056778 NECTIN3 Nonsynonymous SNV R6L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.704 203315 chr21 38519831 38519831 T G rs147844068 TTC3 Nonsynonymous SNV D338E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 203316 chr9 96422528 96422528 G A rs147020467 PHF2 Nonsynonymous SNV V462M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.18 203317 chr19 14263142 14263142 G T ADGRL1 Nonsynonymous SNV P1210T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 203318 chr19 15122168 15122168 G C CCDC105 Nonsynonymous SNV Q177H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 203319 chr21 43230670 43230670 G A rs149309111 PRDM15 Nonsynonymous SNV T868M 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.1 203320 chr3 11600807 11600807 G A rs201659732 VGLL4 Synonymous SNV S120S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.96 203321 chr9 109687834 109687834 A G rs146183570 ZNF462 Synonymous SNV P547P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.48 203322 chr1 92446271 92446271 G C rs201610126 BRDT Nonsynonymous SNV E407D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.654 203323 chr22 21351012 21351012 C T rs779077819 LZTR1 Synonymous SNV Y749Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.34 203324 chr9 113509952 113509952 A G rs755906440 MUSK Nonsynonymous SNV K262R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.34 203325 chr9 114132716 114132716 T G rs931641294 ECPAS Nonsynonymous SNV K1658T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 203326 chr4 155411956 155411956 G C rs373489427 DCHS2 Synonymous SNV T184T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.163 203327 chr1 949597 949597 C T rs61766284 ISG15 Synonymous SNV D79D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 10.85 203328 chr1 1900225 1900225 C T rs72636304 CFAP74 Nonsynonymous SNV R365Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.245 203329 chr3 12422969 12422969 T A rs751417943 PPARG Synonymous SNV V125V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.792 203330 chr19 17886817 17886817 G A rs758779899 FCHO1 Synonymous SNV S293S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.231 203331 chr11 65618613 65618613 G A rs777269361 SNX32 Nonsynonymous SNV V231I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 203332 chr20 20037320 20037320 G A rs61744672 CFAP61 Nonsynonymous SNV R8K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 203333 chr22 35743155 35743155 C T rs748386637 TOM1 Nonsynonymous SNV R433W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 203334 chr1 204397272 204397272 G A PIK3C2B Nonsynonymous SNV S1492F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 203335 chr3 136035902 136035902 C T rs748740009 PCCB Synonymous SNV A362A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 203336 chr3 139065830 139065830 A C rs73866065 MRPS22 Nonsynonymous SNV I54L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.03 203337 chr3 139302124 139302124 A G rs941929695 LOC100507291 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 203338 chr3 140275496 140275496 A G rs376157497 CLSTN2 Nonsynonymous SNV K606E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 203339 chr9 130570986 130570997 TGAGTGGGCAGC - FPGS 0 0.003 0 0 0 1 0 0 0 0 0 0 203340 chr3 141011429 141011429 C T rs116687012 PXYLP1 Synonymous SNV Y275Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.706 203341 chr9 131085416 131085416 C A rs753646987 COQ4 Synonymous SNV P64P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.77 203342 chr16 53691492 53691495 CTAT - RPGRIP1L D484Vfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 203343 chr16 55532218 55532218 T C rs369441378 MMP2 Nonsynonymous SNV Y493H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 203344 chr22 41573996 41573996 A G rs757490161 EP300 Nonsynonymous SNV N2068S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.691 203345 chr22 41634823 41634823 C A rs759337730 CHADL Nonsynonymous SNV V85L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.012 203346 chr3 151083674 151083674 G A rs767049617 MED12L Synonymous SNV T1039T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 203347 chr9 134385675 134385675 G A rs772980661 POMT1 Nonsynonymous SNV R91Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 203348 chr22 43821190 43821190 C T MPPED1 Nonsynonymous SNV R67C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 203349 chr20 3732376 3732376 A C rs932544422 HSPA12B Nonsynonymous SNV T456P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 203350 chr16 65022156 65022156 G A rs55854547 CDH11 Synonymous SNV G175G 0.001 0.005 0 4 1 2 0.01 0 0 0 0 0 13.69 203351 chr16 67354534 67354534 C T rs371246749 KCTD19 Synonymous SNV L86L 0 0 0 3 0 0 0.008 0 0 0 0 0 11.95 203352 chr19 36564370 36564370 C T rs794727965 WDR62 Synonymous SNV D390D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 8.955 203353 chr22 45972888 45972888 G A rs6007093 FBLN1 Synonymous SNV P624P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.25 203354 chr20 43726891 43726891 C T KCNS1 Synonymous SNV P174P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.27 203355 chr20 43836240 43836240 G A rs118141785 SEMG1 Nonsynonymous SNV G101D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.064 203356 chr22 37770155 37770155 G A rs150864906 ELFN2 Nonsynonymous SNV P474S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 203357 chr3 182946097 182946097 G A MCF2L2 Synonymous SNV C701C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 203358 chr16 70500035 70500035 G A rs771833222 FCSK Nonsynonymous SNV G96S 0 0 0 3 0 0 0.008 0 0 0 0 0 29 203359 chr3 185324263 185324263 C T rs749658679 SENP2 Nonsynonymous SNV R199C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 203360 chr3 186360324 186360324 C T FETUB Nonsynonymous SNV A97V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 203361 chr9 139723846 139723846 C A rs774650717 RABL6 Nonsynonymous SNV A123E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.05 203362 chr9 139734817 139734817 G A rs904680688 RABL6 Nonsynonymous SNV S679N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 203363 chr11 114453646 114453646 A G rs772742540 NXPE4 Nonsynonymous SNV L65P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.086 203364 chr9 140693303 140693303 G A EHMT1 Synonymous SNV K841K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.77 203365 chr22 45258402 45258402 G A rs144546780 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV R410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 203366 chr10 1149754 1149754 C T rs145990280 WDR37 Synonymous SNV S313S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 203367 chr2 10924446 10924446 C T rs150048716 PDIA6 Nonsynonymous SNV V421M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 203368 chr3 196792233 196792233 G C DLG1 Nonsynonymous SNV Q658E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 203369 chr11 123900712 123900712 C G rs138082866 OR10G8 Nonsynonymous SNV P128R 0.003 0 0 0 3 0 0 0 0 0 0 0 27.8 203370 chr11 125478111 125478111 A C STT3A Nonsynonymous SNV E204D 0.003 0 0 0 3 0 0 0 0 0 0 0 17.69 203371 chr10 13325721 13325721 G C PHYH Nonsynonymous SNV S178C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 203372 chr3 36527654 36527654 C A STAC Stop gain Y139X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 203373 chr16 87678033 87678033 G A rs774795524 JPH3 Synonymous SNV A184A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.874 203374 chr10 25304822 25304822 G A rs112816834 ENKUR Nonsynonymous SNV P15L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 203375 chr12 772521 772521 T C rs375586297 NINJ2 Synonymous SNV E2E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.21 203376 chr10 27337844 27337844 C T rs865962838 ANKRD26 Nonsynonymous SNV G567D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.68 203377 chr21 33954516 33954516 G A rs141416764 C21orf59-TCP10L, TCP10L Synonymous SNV H118H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.098 203378 chr16 88804373 88804373 C T rs755369994 PIEZO1 Nonsynonymous SNV R330H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.14 203379 chr21 34004111 34004111 C T rs115648918 SYNJ1 Nonsynonymous SNV V1259I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 11.97 203380 chr16 89702395 89702395 G A rs753347684 DPEP1 Nonsynonymous SNV A62T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.554 203381 chr2 165953933 165953933 C T rs755925430 SCN3A Synonymous SNV L1307L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 14.09 203382 chr3 49718599 49718599 C T rs148073833 APEH Synonymous SNV A455A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.56 203383 chr3 49759362 49759362 G A rs779899580 GMPPB Synonymous SNV G329G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.278 203384 chr10 50690854 50690854 C T rs148845653 ERCC6 Nonsynonymous SNV R683Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.7 203385 chr2 150061848 150061848 C T rs145497710 LYPD6B Synonymous SNV I15I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 203386 chr1 201183376 201183376 T A rs147937882 IGFN1 Nonsynonymous SNV C2934S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.5 203387 chr1 29448300 29448300 C T rs779243121 TMEM200B Nonsynonymous SNV R14K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 203388 chr3 62253382 62253382 A T rs780253886 PTPRG Nonsynonymous SNV Y921F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 203389 chr17 18167860 18167860 C T MIEF2 Synonymous SNV L383L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.366 203390 chr2 167138316 167138316 G A SCN9A Synonymous SNV G659G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.716 203391 chr17 19318472 19318472 G C RNF112 Nonsynonymous SNV R416S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 203392 chr3 78717331 78717331 A C rs74715114 ROBO1 Nonsynonymous SNV N548K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 203393 chr10 74992758 74992758 T G rs202136724 FAM149B1 Nonsynonymous SNV W397G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.3 203394 chr1 36026062 36026062 C T rs1010501797 NCDN Nonsynonymous SNV R87W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 203395 chr10 79570913 79570913 C T rs148449267 DLG5 Nonsynonymous SNV D1468N 0 0.003 0 0 0 1 0 0 0 0 0 0 24 203396 chr10 79595622 79595622 C T rs750819054 DLG5 Nonsynonymous SNV R499Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 203397 chr1 205813976 205813976 C T rs199847914 PM20D1 Nonsynonymous SNV R180Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.6 203398 chr10 81319075 81319075 G T rs374934406 SFTPA2 Synonymous SNV G65G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.25 203399 chr2 171256771 171256771 C T rs148136770 MYO3B Nonsynonymous SNV S622F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 203400 chr22 22042377 22042377 C A rs141789375 PPIL2 Nonsynonymous SNV P335T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 203401 chr1 213415970 213415970 C T rs762478973 RPS6KC1 Synonymous SNV S495S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.78 203402 chr2 191224927 191224927 C T rs2067404 INPP1 Synonymous SNV I33I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.73 203403 chr4 111441428 111441428 C G rs751333100 ENPEP Nonsynonymous SNV P545A 0 0 0.003 0 0 0 0 1 0 0 0 0 28 203404 chr10 96748777 96748777 C T rs9332239 CYP2C9 Nonsynonymous SNV P489S 0 0.008 0 0 0 3 0 0 0 0 0 0 23.5 203405 chr19 55512201 55512201 A G rs139504696 NLRP2 Nonsynonymous SNV I1020V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 203406 chr5 170863239 170863239 G A rs745353337 FGF18 Nonsynonymous SNV R71H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 203407 chr4 120488279 120488279 G A rs201347708 PDE5A Synonymous SNV A284A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.64 203408 chr10 99330067 99330067 G A rs758894209 UBTD1 Synonymous SNV T157T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.775 203409 chr10 100380396 100380396 T C rs146794713 HPSE2 Nonsynonymous SNV T278A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.75 203410 chr19 56089895 56089895 C T rs557084595 ZNF579 Nonsynonymous SNV D371N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.61 203411 chr10 103339392 103339392 T C rs202015609 POLL Nonsynonymous SNV M241V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 203412 chr22 32109067 32109067 C T PRR14L Synonymous SNV L1586L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.392 203413 chr22 32109084 32109084 C T PRR14L Nonsynonymous SNV A1581T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 203414 chr1 227922483 227922483 G A rs758181783 JMJD4 Synonymous SNV V145V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 203415 chr4 140811292 140811292 C T rs200939015 MAML3 Nonsynonymous SNV R433Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 203416 chr1 228434452 228434452 G A OBSCN Synonymous SNV E1327E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.373 203417 chr2 198571223 198571223 A G rs146365382 MARS2 Nonsynonymous SNV Y365C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.1 203418 chr2 21361036 21361036 T G TDRD15 Nonsynonymous SNV L233V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 203419 chr5 33577037 33577037 G C ADAMTS12 Nonsynonymous SNV L947V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 203420 chr4 156839352 156839352 G A rs151132024 TDO2 Nonsynonymous SNV G343D 0 0 0.007 0 0 0 0 2 0 0 0 0 32 203421 chr2 219082265 219082265 C T rs773760021 ARPC2 Synonymous SNV A24A 0.002 0 0 0 2 0 0 0 0 0 0 0 22 203422 chr10 118313247 118313247 C T rs111790567 PNLIP Synonymous SNV F156F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 203423 chr10 118314919 118314919 C T rs112464025 PNLIP Synonymous SNV V237V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 203424 chr10 118319998 118319998 C T rs150852844 PNLIP Synonymous SNV F377F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.12 203425 chr10 118321055 118321055 T A rs111319548 PNLIP Nonsynonymous SNV M414K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 203426 chr1 65858138 65858138 G A rs769675158 DNAJC6 Nonsynonymous SNV C498Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 203427 chr10 120789548 120789548 T A rs79170274 NANOS1 Nonsynonymous SNV S79T 0.002 0.005 0.014 0 2 2 0 4 0 0 0 0 Benign 0.02 203428 chr19 58773427 58773427 G A rs145233590 ZNF544 Synonymous SNV T457T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.314 203429 chr1 67861509 67861509 G A rs774704366 IL12RB2 Nonsynonymous SNV D690N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.988 203430 chr2 220162015 220162015 C T rs17847406 PTPRN Synonymous SNV P647P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.06 203431 chr1 78326984 78326984 G C rs776001941 MIGA1 Nonsynonymous SNV E451Q 0.002 0 0 0 2 0 0 0 0 0 0 0 16.32 203432 chr4 186515050 186515050 C T rs141463006 SORBS2 Nonsynonymous SNV G946R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.1 203433 chr22 46658592 46658592 A G PKDREJ Nonsynonymous SNV C210R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 203434 chr12 70037533 70037533 C T rs905126863 BEST3 Nonsynonymous SNV D379N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 8.231 203435 chr2 220342661 220342661 C T rs55646900 SPEG Nonsynonymous SNV R1621C 0.003 0 0 0 3 0 0 0 0 0 0 0 28.8 203436 chr19 8665901 8665901 C T rs550907057 ADAMTS10 Nonsynonymous SNV V241M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 203437 chr4 3029661 3029661 C T rs373874952 GRK4 Synonymous SNV L137L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 203438 chr2 220419225 220419225 A C OBSL1 Nonsynonymous SNV L1616R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 203439 chr2 220500209 220500209 C T rs767925893 SLC4A3 Nonsynonymous SNV P682S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 203440 chr11 489436 489436 G A rs112480384 PTDSS2 Synonymous SNV P88P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.88 203441 chr1 983501 983501 G A rs759115477 AGRN Synonymous SNV R1287R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.184 203442 chr4 39000324 39000324 G A rs199757280 TMEM156 Synonymous SNV S98S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.877 203443 chr12 95602631 95602631 T C FGD6 Nonsynonymous SNV H810R 0.003 0 0 0 3 0 0 0 0 0 0 0 8.81 203444 chr4 39278746 39278746 C G rs200670161 WDR19 Nonsynonymous SNV P1115A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 27.6 203445 chr12 101723177 101723177 C G rs199815086 UTP20 Nonsynonymous SNV L1123V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.88 203446 chr4 44719181 44719181 C T GNPDA2 Nonsynonymous SNV A86T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.47 203447 chr12 103249011 103249011 G A rs1801147 PAH Synonymous SNV C203C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.59 203448 chr17 59482065 59482065 C A rs182290035 TBX2 Nonsynonymous SNV P329H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 25.3 203449 chr2 234357832 234357832 G A rs542183550 DGKD Synonymous SNV P522P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12 203450 chr4 56315642 56315642 G A rs774978617 CLOCK Nonsynonymous SNV T457M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.261 203451 chr19 984365 984365 C T WDR18 Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 203452 chr12 112919929 112919929 G A PTPN11 Nonsynonymous SNV V382I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 18.9 203453 chr2 239056592 239056592 G A rs202029139 KLHL30 Nonsynonymous SNV R423Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 203454 chr2 272089 272089 A G ACP1 Nonsynonymous SNV D57G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 21 203455 chr4 7435441 7435441 G A rs200956294 PSAPL1 Nonsynonymous SNV A389V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.549 203456 chr4 75177996 75177996 C - EPGN H77Mfs*3 0 0 0.007 0 0 0 0 2 0 0 0 0 203457 chr4 775021 775021 G C LOC100129917 0 0 0.003 0 0 0 0 1 0 0 0 0 3.639 203458 chr4 83626502 83626502 G A rs763577278 SCD5 Synonymous SNV H99H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 203459 chr12 123805131 123805142 TGTTACTGTTGG - rs777006186 SBNO1 T835_N838del 0.003 0.005 0 5 3 2 0.013 0 0 0 0 0 203460 chr2 27306402 27306402 A G rs201549569 EMILIN1 Nonsynonymous SNV S655G 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 203461 chr2 36706700 36706700 A C rs113372122 CRIM1 Nonsynonymous SNV H412P 0.002 0 0 0 2 0 0 0 0 0 0 0 26 203462 chr2 27438370 27438370 G A rs144459824 ATRAID Nonsynonymous SNV D108N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.84 203463 chr2 38224577 38224577 A C RMDN2 Nonsynonymous SNV I177L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22 203464 chr11 5221540 5221540 G A rs145497058 OR51V1 Nonsynonymous SNV R131W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 203465 chr4 91229803 91229803 G A rs745548077 CCSER1 Nonsynonymous SNV R123Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 203466 chr4 94377042 94377042 C T rs145785994 GRID2 Nonsynonymous SNV P497L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 203467 chr1 118567994 118567994 C T rs202113364 SPAG17 Nonsynonymous SNV R1259H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 203468 chr1 1262788 1262788 G A rs775657160 CPTP Nonsynonymous SNV R97H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 203469 chr5 110445979 110445979 G A rs116529882 WDR36 Nonsynonymous SNV R529Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Pathogenic 34 203470 chr2 61019292 61019292 C T rs761288393 PAPOLG Nonsynonymous SNV S516L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 203471 chr2 64794834 64794834 T C rs779591612 AFTPH Synonymous SNV L692L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.666 203472 chr2 67632237 67632237 C G rs771917424 ETAA1 Nonsynonymous SNV A808G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.874 203473 chr17 76972113 76972113 C T rs149562019 LGALS3BP Nonsynonymous SNV V60I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 203474 chr17 78064005 78064005 C A CCDC40 Nonsynonymous SNV T967K 0 0 0 2 0 0 0.005 0 0 0 0 1 10.21 203475 chr13 29041691 29041691 A T rs749507400 FLT1 Nonsynonymous SNV M43K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 203476 chr1 15438826 15438833 TGTGTGTG - TMEM51-AS1 0.005 0 0 1 6 0 0.003 0 0 0 0 0 203477 chr5 140167748 140167748 G A rs782044308 PCDHA1 Nonsynonymous SNV G625R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 203478 chr5 140213999 140213999 G C PCDHA7 Nonsynonymous SNV G11R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 203479 chr5 140725143 140725143 T A rs371348135 PCDHGA3 Nonsynonymous SNV Y515N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 203480 chr2 84851420 84851420 G A rs756700279 DNAH6 Nonsynonymous SNV G1368D 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 203481 chr11 13398205 13398205 C T rs770270898 ARNTL Synonymous SNV G330G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.34 203482 chr11 15243133 15243133 C T rs779873980 INSC Synonymous SNV P268P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.79 203483 chr11 17656672 17656672 G A rs76461792 OTOG Nonsynonymous SNV R2556Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 31 203484 chr18 210398 210398 A G rs61734347 USP14 Nonsynonymous SNV N378S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 203485 chr5 145838635 145838635 - CAGGCC rs747040868 TCERG1 Q242_V243insAQ 0.001 0 0.003 0 1 0 0 1 0 0 0 0 203486 chr11 18723341 18723341 G C TMEM86A Nonsynonymous SNV A170P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 203487 chr13 113803412 113803412 G A rs372309538 F10 Nonsynonymous SNV E306K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 203488 chr1 94140374 94140374 C T rs202034375 BCAR3 Nonsynonymous SNV R38H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.5 203489 chr11 45946079 45946079 A G rs144027171 LARGE2 Nonsynonymous SNV N172S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 203490 chr3 122060309 122060309 T C rs144802947 CSTA Synonymous SNV Y64Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 203491 chr2 220496801 220496801 - GAA SLC4A3 K340_L341insK 0.001 0 0 0 1 0 0 0 0 0 0 0 203492 chr3 12977230 12977230 C T rs144790333 IQSEC1 Nonsynonymous SNV R429K 0.004 0 0 0 5 0 0 0 0 0 0 0 23 203493 chr18 60191179 60191179 C T rs1050465597 ZCCHC2 Synonymous SNV I174I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.27 203494 chr5 178506646 178506646 A T rs767867559 ZNF354C Nonsynonymous SNV I405F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 203495 chr2 233735113 233735113 C T rs371963662 SNORC Nonsynonymous SNV A45V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 203496 chr18 6948424 6948424 G A rs779557855 LAMA1 Synonymous SNV D2896D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.339 203497 chr1 183079729 183079729 C T rs142614579 LAMC1 Nonsynonymous SNV P321S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 27.3 203498 chr1 183091040 183091040 G A rs147401305 LAMC1 Nonsynonymous SNV A725T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 7.314 203499 chr3 140140037 140140037 C T rs141120664 CLSTN2 Synonymous SNV Y236Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 203500 chr18 74091921 74091921 C T ZNF516 Nonsynonymous SNV E717K 0.003 0 0 3 4 0 0.008 0 0 0 0 0 23.3 203501 chr18 9258860 9258860 C T rs149491789 ANKRD12 Synonymous SNV D1842D 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 13.52 203502 chr3 149290722 149290722 A G rs749185901 WWTR1 Nonsynonymous SNV M166T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.51 203503 chr5 41004964 41004964 A C rs778311149 MROH2B Nonsynonymous SNV M1308R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 203504 chr19 1020813 1020813 C T rs138011392 TMEM259 Synonymous SNV P61P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 21.8 203505 chr3 141163458 141163458 C T rs751006397 ZBTB38 Nonsynonymous SNV A743V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 203506 chr20 39766322 39766322 C T rs767209449 PLCG1 Nonsynonymous SNV P14L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 203507 chr20 39976284 39976284 T A rs141757517 LPIN3 Nonsynonymous SNV D95E 0.004 0 0 0 5 0 0 0 0 0 0 0 1.001 203508 chr3 143551039 143551039 C A SLC9A9 Nonsynonymous SNV R67L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 203509 chr3 147121880 147121880 C T rs186862288 ZIC4 Synonymous SNV P2P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.11 203510 chr3 14724372 14724372 G C rs774762474 C3orf20 Nonsynonymous SNV W51S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 203511 chr5 54456170 54456174 TGAAG - rs747684704 GPX8 V52Gfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 203512 chr3 171321023 171321023 C T rs9827333 PLD1 Nonsynonymous SNV V986I 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 12.84 203513 chr20 43850476 43850476 C T rs779077576 SEMG2 Nonsynonymous SNV T68I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.127 203514 chr3 171379901 171379901 G A rs9821754 PLD1 Synonymous SNV H725H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 Benign 2.079 203515 chr3 171455697 171455697 G C rs9819927 PLD1 Nonsynonymous SNV P49A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.003 203516 chr20 44685193 44685193 A G SLC12A5 Nonsynonymous SNV S1057G 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 203517 chr1 203014529 203014529 C T rs748008294 PPFIA4 Nonsynonymous SNV L234F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 203518 chr3 17131374 17131374 C T rs149144281 PLCL2 Synonymous SNV P992P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 203519 chr11 60689618 60689618 G A rs61732710 TMEM109 Nonsynonymous SNV R238H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 203520 chr20 56093760 56093760 T G rs760652104 CTCFL Synonymous SNV V371V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.805 203521 chr22 40814738 40814738 G C rs373182628 MRTFA Synonymous SNV P568P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.382 203522 chr5 79031546 79031546 T C rs77264196 CMYA5 Nonsynonymous SNV Y2320H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.75 203523 chr5 95194593 95194593 G T rs17085193 LINC01554 0 0 0.017 0 0 0 0 5 0 0 0 0 30 203524 chr6 108497726 108497726 G A rs769686347 NR2E1 Synonymous SNV G130G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.011 203525 chr6 108616415 108616415 T A rs753153988 AFG1L Nonsynonymous SNV F44L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 203526 chr3 195800851 195800851 C T rs757540110 TFRC Synonymous SNV K47K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 203527 chr6 11735878 11735880 GAC - rs780299878 ADTRP V143del 0 0 0.007 0 0 0 0 2 0 0 0 0 203528 chr6 117589377 117589377 G A rs374929524 VGLL2 Synonymous SNV A38A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 203529 chr6 12161798 12161798 C T rs762584691 HIVEP1 Nonsynonymous SNV A2205V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 203530 chr6 122753304 122753304 T C HSF2 Nonsynonymous SNV F499S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 203531 chr11 67260981 67260981 G A rs775819670 PITPNM1 Nonsynonymous SNV S1080L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 203532 chr6 129674470 129674470 A G rs767903280 LAMA2 Nonsynonymous SNV H1562R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 0.354 203533 chr2 75873956 75873956 G C rs765286897 MRPL19 Nonsynonymous SNV G8A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.028 203534 chr3 3084839 3084839 G A CNTN4 Nonsynonymous SNV R568Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 203535 chr11 68703974 68703974 G A rs149577588 IGHMBP2 Nonsynonymous SNV G676R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.53 203536 chr6 133136475 133136475 C T rs114497802 SNORD101 0 0 0.003 0 0 0 0 1 0 0 0 0 19.65 203537 chr6 146720826 146720826 G A rs362936 GRM1 Nonsynonymous SNV G884E 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 19.72 203538 chr6 150004605 150004605 C T rs73779542 LATS1 Synonymous SNV V260V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.378 203539 chr6 150164190 150164190 G A rs9478945 LRP11 Nonsynonymous SNV T281M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.994 203540 chr6 150212034 150212034 G A rs61746769 RAET1E Stop gain R2X 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 203541 chr6 150569938 150569938 G A rs372465064 PPP1R14C Synonymous SNV P160P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.797 203542 chr6 151055033 151055033 C T rs61745188 PLEKHG1 Synonymous SNV P131P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.752 203543 chr6 151152605 151152605 C T rs115830521 PLEKHG1 Synonymous SNV S747S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.87 203544 chr3 42675110 42675110 T G rs35726114 NKTR Nonsynonymous SNV V271G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.13 203545 chr3 42705945 42705945 T G rs113850911 ZBTB47 Nonsynonymous SNV L700R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 203546 chr3 42733381 42733383 GAG - rs142843476 KLHL40 E590del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 203547 chr6 151673064 151673064 T C AKAP12 Nonsynonymous SNV F1075L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 203548 chr3 42916511 42916511 C A rs741817 CYP8B1 Synonymous SNV G266G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.52 203549 chr6 151936711 151936711 C A rs73780818 CCDC170 Nonsynonymous SNV A615D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 33 203550 chr11 82444668 82444668 C G rs144429777 FAM181B Nonsynonymous SNV G35A 0 0.003 0 0 0 1 0 0 0 0 0 0 21 203551 chr6 152489328 152489328 C T rs138295965 SYNE1 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 203552 chr3 105378033 105378033 C T rs372859058 CBLB Synonymous SNV P557P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 203553 chr6 155597257 155597257 C T rs778274068 CLDN20 Nonsynonymous SNV S135L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.6 203554 chr1 24077668 24077668 C T rs369038337 ELOA Synonymous SNV V217V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 203555 chr21 45194187 45194187 C T rs570768038 CSTB Nonsynonymous SNV V65I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.918 203556 chr11 99690314 99690314 C A rs754214109 CNTN5 Nonsynonymous SNV A32D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 203557 chr6 160481660 160481660 T C rs756879925 IGF2R Nonsynonymous SNV I1058T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 203558 chr3 47460229 47460229 G A rs770058714 SCAP Nonsynonymous SNV P427L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.388 203559 chr11 103157101 103157101 T A DYNC2H1 Nonsynonymous SNV S3670T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.58 203560 chr2 152548406 152548406 G A rs752540640 NEB Nonsynonymous SNV A728V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 203561 chr6 170190312 170190312 G T LINC00242, LINC00574 0 0 0.003 0 0 0 0 1 0 0 0 0 6.523 203562 chr11 108383848 108383848 T C rs201813918 EXPH5 Nonsynonymous SNV K608E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 203563 chr6 22136883 22136883 G C rs78938490 NBAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 203564 chr22 17589928 17589928 G A rs28376631 IL17RA Nonsynonymous SNV E573K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.67 203565 chr22 17601438 17601438 G T rs201443358 TMEM121B Nonsynonymous SNV P194T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.21 203566 chr22 18077334 18077334 G A rs76511316 ATP6V1E1 Synonymous SNV S171S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.54 203567 chr3 51979875 51979875 C T rs199581414 PARP3 Stop gain Q347X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 203568 chr19 39689850 39689850 G A NCCRP1 Nonsynonymous SNV G165S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 203569 chr3 52255818 52255818 G A rs138032346 TLR9 Synonymous SNV L838L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.504 203570 chr3 71774422 71774422 C T EIF4E3 Nonsynonymous SNV G33S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.126 203571 chr3 52562505 52562505 G C NT5DC2 Nonsynonymous SNV T200S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.54 203572 chr6 27218513 27218515 CTC - rs145433670 PRSS16 S177del 0 0 0.003 0 0 0 0 1 0 0 0 0 203573 chr1 26646676 26646676 C T CD52 Synonymous SNV L23L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.499 203574 chr3 52848037 52848037 C T rs151083454 ITIH4 Nonsynonymous SNV G863S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.158 203575 chr2 170097611 170097611 C G rs140748929 LRP2 Nonsynonymous SNV R1311P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 203576 chr11 118516333 118516333 G A rs138777339 PHLDB1 Synonymous SNV G1080G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.89 203577 chr3 53806913 53806913 C T CACNA1D Synonymous SNV V1351V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 203578 chr11 118916364 118916364 G A rs150272156 HYOU1 Nonsynonymous SNV P981S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 203579 chr2 172841213 172841213 C T rs73976541 HAT1 Nonsynonymous SNV A314V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.18 203580 chr22 28378287 28378287 C T rs757345038 TTC28 Synonymous SNV A2456A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 203581 chr11 122724694 122724694 G A rs777065254 CRTAM Synonymous SNV K130K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.152 203582 chr3 65415721 65415721 G A rs764124302 MAGI1 Synonymous SNV S547S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 203583 chr22 29683089 29683089 A G rs777534174 EWSR1 Synonymous SNV Q197Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.513 203584 chr1 36788033 36788033 G T EVA1B Synonymous SNV R121R 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.35 203585 chr4 114276906 114276906 G A rs141191319 ANK2 Nonsynonymous SNV E2378K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.91 203586 chr6 43568782 43568782 C T POLH Nonsynonymous SNV H116Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 203587 chr1 40688257 40688257 C T rs146717003 RLF Synonymous SNV V274V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.61 203588 chr1 41494221 41494221 A G rs773637274 SLFNL1-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.404 203589 chr6 49425727 49425727 G A MMUT Nonsynonymous SNV R144C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 203590 chr11 132307189 132307189 G A rs199586572 OPCML Synonymous SNV S197S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.05 203591 chr19 46178071 46178071 C T rs1800436 GIPR Nonsynonymous SNV A171V 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.488 203592 chr4 128628045 128628045 A G rs148361282 INTU Nonsynonymous SNV H731R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.015 203593 chr22 37882171 37882171 G A rs77701703 MFNG Synonymous SNV T15T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.4 203594 chr12 541069 541069 A G CCDC77 Synonymous SNV R175R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 203595 chr2 196642631 196642631 G A rs185923736 DNAH7 Nonsynonymous SNV R3653C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 203596 chr12 2595418 2595418 G A rs367860917 CACNA1C Synonymous SNV E302E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.68 203597 chr12 2800240 2800240 G A CACNA1C Nonsynonymous SNV V2106M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.38 203598 chr4 15004878 15004878 - GCC CPEB2 P201_L202insP 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 203599 chr15 89395035 89395035 G A rs372553119 ACAN Synonymous SNV A679A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.204 203600 chr4 15517532 15517532 T C rs201465430 CC2D2A Nonsynonymous SNV F308L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 203601 chr1 52205875 52205875 A G OSBPL9 Nonsynonymous SNV K127E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.65 203602 chr1 53370708 53370708 - C rs753508962 ECHDC2 Frameshift insertion A140Gfs*30 0.001 0.003 0 0 1 1 0 0 0 0 0 0 203603 chr4 115997794 115997794 A G NDST4 Synonymous SNV Y133Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 203604 chr6 7862707 7862707 G A rs142167481 BMP6 Nonsynonymous SNV V394M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 203605 chr3 184040925 184040925 T C EIF4G1 Nonsynonymous SNV C466R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.289 203606 chr2 210822380 210822380 C T rs77708914 UNC80 Synonymous SNV A2424A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 16.48 203607 chr4 17635353 17635353 G A rs374041125 FAM184B Synonymous SNV T1016T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.657 203608 chr7 100482895 100482895 C T rs148712422 SRRT Synonymous SNV A406A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 203609 chr2 218712290 218712290 G A rs61746994 TNS1 Nonsynonymous SNV R859W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.7 203610 chr2 218712886 218712886 - GCTGCT rs3839056 TNS1 Q659_P660insQQ 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 203611 chr2 218935481 218935481 G A rs116348436 RUFY4 Nonsynonymous SNV V18I 0.005 0 0 2 6 0 0.005 0 0 0 0 0 14.49 203612 chr12 12629972 12629972 C T rs202242730 DUSP16 Nonsynonymous SNV R598H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 203613 chr1 6641062 6641062 G A rs138184801 ZBTB48 Synonymous SNV G131G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.854 203614 chr2 219494308 219494308 C T rs766646994 PLCD4 Synonymous SNV V347V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 203615 chr2 219528786 219528786 C T RNF25 Nonsynonymous SNV G425D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 203616 chr2 219877997 219877997 G A rs574700979 CFAP65 Nonsynonymous SNV T1314M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6 203617 chr4 187197452 187197452 C T rs142846329 F11 Synonymous SNV P221P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.11 203618 chr2 220402688 220402688 G A rs115824877 ASIC4 Nonsynonymous SNV G622R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 203619 chr4 1978300 1978300 C T rs201513781 NSD2 Synonymous SNV D1240D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.46 203620 chr4 166986909 166986909 C T rs116134567 TLL1 Synonymous SNV G694G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.26 203621 chr2 10927522 10927522 C T rs200773446 PDIA6 Nonsynonymous SNV A348T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.81 203622 chr2 225653887 225653887 C T rs376600449 DOCK10 Nonsynonymous SNV S1765N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 203623 chr1 89582879 89582879 A G GBP2 Synonymous SNV L222L 0.001 0.005 0 2 1 2 0.005 0 0 1 0 0 8.173 203624 chr4 36295280 36295280 A C DTHD1 Nonsynonymous SNV N161H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 203625 chr12 48189722 48189722 G A rs756567076 HDAC7 Synonymous SNV P274P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 203626 chr2 120383227 120383227 G A CFAP221 Synonymous SNV L493L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.856 203627 chr7 107434220 107434220 C T SLC26A3 Nonsynonymous SNV G80S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 203628 chr2 128408366 128408366 G A rs61738383 GPR17 Synonymous SNV T19T 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 1.207 203629 chr8 144461524 144461524 C T rs759609324 RHPN1 Nonsynonymous SNV P264L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 32 203630 chr12 50746098 50746098 A G rs10876022 FAM186A Nonsynonymous SNV L1506P 0 0.005 0.007 0 0 2 0 2 0 1 1 0 3.582 203631 chr3 45542003 45542003 C T rs149911756 LARS2 Synonymous SNV A564A 0.007 0 0 0 8 0 0 0 0 0 0 0 Benign/Likely benign 19.99 203632 chr2 240056019 240056019 C T rs147050291 HDAC4 Nonsynonymous SNV G406R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 203633 chr7 134800210 134800210 A - rs763853516 AGBL3 D171Vfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 203634 chr7 134800212 134800212 G - rs751209446 AGBL3 D172Mfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 203635 chr7 134800213 134800213 A C rs757729721 AGBL3 Nonsynonymous SNV D172A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 203636 chr12 53207537 53207537 G A rs373594963 KRT4 Synonymous SNV P102P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.728 203637 chr2 242138746 242138746 G A rs777601769 ANO7 Nonsynonymous SNV G109R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.943 203638 chr19 56733390 56733390 C T rs201043563 ZSCAN5A Nonsynonymous SNV E232K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 203639 chr8 145742058 145742058 G A rs766844431 RECQL4 Nonsynonymous SNV P149S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Uncertain significance 0.003 203640 chr2 26405937 26405937 G T GAREM2 Nonsynonymous SNV V42L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 203641 chr7 142573644 142573644 A T rs151308770 TRPV6 Nonsynonymous SNV L299Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 28.4 203642 chr8 17570732 17570732 G C rs763713967 MTUS1 Nonsynonymous SNV L119V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.704 203643 chr7 143049028 143049028 C T rs776873546 CLCN1 Synonymous SNV D979D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 16.16 203644 chr16 28847397 28847397 C T rs375716328 ATXN2L Synonymous SNV L1019L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.637 203645 chr7 148991739 148991739 G A rs117907191 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 3.61 203646 chr16 30369352 30369352 C T rs368199332 TBC1D10B Synonymous SNV S780S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.82 203647 chr12 57992961 57992961 C T rs149165782 PIP4K2C Synonymous SNV H161H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 203648 chr12 58007901 58007901 G A rs141643619 ARHGEF25 Nonsynonymous SNV D219N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 203649 chr7 151860230 151860230 G C rs142835638 KMT2C Nonsynonymous SNV Q3478E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 22.4 203650 chr4 83821875 83821875 A G THAP9-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.31 203651 chr12 65672584 65672584 - CTCTGCCTCTCC rs762162721 MSRB3 L19_C20insSLCL 0 0.003 0 0 0 1 0 0 0 0 0 0 203652 chr16 57760808 57760808 G A DRC7 Nonsynonymous SNV R615K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 203653 chr20 40044240 40044240 T C rs201271909 CHD6 Synonymous SNV Q2175Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.054 203654 chr20 40143487 40143487 G C CHD6 Nonsynonymous SNV S220C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 203655 chr7 2583588 2583588 C T rs1008248711 BRAT1 Nonsynonymous SNV D147N 0 0 0.007 0 0 0 0 2 0 0 0 0 26.4 203656 chr7 25989572 25989572 A G MIR148A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 203657 chr16 69726801 69726801 A T rs751417445 NFAT5 Nonsynonymous SNV T800S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.537 203658 chr5 101795406 101795406 T C rs144439446 SLCO6A1 Synonymous SNV A263A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Likely benign 0.618 203659 chr4 7716916 7716916 C T rs376351462 SORCS2 Synonymous SNV Y710Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 203660 chr16 70697967 70697967 G A rs762308150 MTSS2 Synonymous SNV T619T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.437 203661 chr7 29928974 29928974 G A rs779515341 WIPF3 Synonymous SNV P434P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 203662 chr5 110446894 110446894 G A rs776509540 WDR36 Nonsynonymous SNV D601N 0.005 0.008 0 0 6 3 0 0 0 0 0 0 23 203663 chr12 109834264 109834264 G C rs142805645 MYO1H Nonsynonymous SNV E106D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 203664 chr12 109907499 109907499 G A rs200331161 KCTD10 Nonsynonymous SNV A13V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 22.2 203665 chr7 45124891 45124891 G A NACAD Synonymous SNV D296D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.971 203666 chr4 130023945 130023945 A G rs141843479 C4orf33 Synonymous SNV E60E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.86 203667 chr7 4900400 4900400 T C rs185455014 PAPOLB Nonsynonymous SNV I348V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.05 203668 chr4 13601933 13601933 C T rs141423399 BOD1L1 Synonymous SNV A2197A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.79 203669 chr7 50444334 50444334 G A rs746327678 IKZF1 Synonymous SNV S88S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.369 203670 chr7 50514621 50514621 C A FIGNL1 Nonsynonymous SNV G122V 0 0 0.007 0 0 0 0 2 0 0 0 0 20.7 203671 chr7 5410847 5410847 G C rs201047564 TNRC18 Synonymous SNV L1126L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 3.324 203672 chr12 119583466 119583466 C T rs374959930 SRRM4 Nonsynonymous SNV P351L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 203673 chr5 140203102 140203102 C A PCDHA5 Nonsynonymous SNV P581Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 18.8 203674 chr9 111625242 111625242 G A rs41278347 ACTL7A Nonsynonymous SNV G214S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.4 203675 chr20 62046323 62046323 G A rs141951341 KCNQ2 Synonymous SNV F458F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 13.05 203676 chr12 120884338 120884338 G A rs753021870 GATC Nonsynonymous SNV G19S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.93 203677 chr20 62197463 62197463 G A rs115930643 HELZ2 Synonymous SNV R335R 0.003 0 0 0 3 0 0 0 0 0 0 0 4.12 203678 chr7 7530225 7530225 C A rs149438746 COL28A1 Nonsynonymous SNV G360V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 32 203679 chr4 15689691 15689691 G A rs200305318 FAM200B Nonsynonymous SNV R364Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 203680 chr5 141052376 141052376 G A ARAP3 Nonsynonymous SNV R404C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 32 203681 chr5 145442239 145442239 C T rs147803771 SH3RF2 Nonsynonymous SNV T722M 0.003 0 0 0 3 0 0 0 0 0 0 0 7.819 203682 chr7 87031542 87031542 T C ABCB4 Nonsynonymous SNV Q1190R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 203683 chr12 130898844 130898844 G A rs117753238 RIMBP2 Synonymous SNV Y826Y 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 1.421 203684 chr1 115118299 115118299 T C rs780283711 BCAS2 Nonsynonymous SNV M111V 0 0 0 3 0 0 0.008 0 0 0 0 0 15.19 203685 chr1 11585338 11585338 C T rs768605591 DISP3 Nonsynonymous SNV S861L 0 0 0 4 0 0 0.01 0 0 0 0 0 8.297 203686 chr7 94292808 94292810 CAA - rs767313465 PEG10 N63del 0.003 0 0.003 0 4 0 0 1 0 0 0 0 203687 chr21 41416163 41416163 G A rs191369731 DSCAM Nonsynonymous SNV A1742V 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 17.53 203688 chr7 99705133 99705133 G A rs145591068 TAF6 Synonymous SNV T627T 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Likely benign 10.9 203689 chr9 127119171 127119171 C T rs147487944 PSMB7 Synonymous SNV V198V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.98 203690 chr9 130191113 130191113 C T rs150837443 ZNF79 Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.644 203691 chr13 23910487 23910487 C T rs111920492 SACS Nonsynonymous SNV A2363T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 203692 chr2 235950749 235950749 G A rs139088001 SH3BP4 Nonsynonymous SNV E446K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 203693 chr13 25744513 25744513 C A rs145230863 AMER2 Synonymous SNV V415V 0.004 0.005 0.003 3 5 2 0.008 1 0 0 0 0 13.9 203694 chr13 25887778 25887778 T C rs77639634 NUP58 Synonymous SNV L143L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.409 203695 chr13 25887822 25887822 C T rs148762402 NUP58 Synonymous SNV L157L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 203696 chr13 26138165 26138165 G A rs201904651 ATP8A2 Nonsynonymous SNV R450H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23 203697 chr5 146460636 146460636 A G PPP2R2B Nonsynonymous SNV I25T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.05 203698 chr4 38097569 38097569 G A rs146834783 TBC1D1 Synonymous SNV L752L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.12 203699 chr13 33703237 33703237 A G rs375856181 STARD13 Nonsynonymous SNV F518S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.251 203700 chr13 36050259 36050259 G A rs141975683 MAB21L1 Nonsynonymous SNV A6V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 203701 chr8 124265764 124265764 T C ZHX1 Nonsynonymous SNV H808R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.939 203702 chr8 124978527 124978527 T C rs762828352 FER1L6 Synonymous SNV N127N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.952 203703 chr8 126095371 126095371 T C rs142907217 WASHC5 Nonsynonymous SNV I106V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.831 203704 chr5 150227752 150227752 A C IRGM Nonsynonymous SNV K23Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.282 203705 chr5 178391971 178391971 A G ZNF454 Nonsynonymous SNV K189R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.788 203706 chr8 131072939 131072939 T G rs145770490 ASAP1 Synonymous SNV L969L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.632 203707 chr8 131859701 131859701 G A rs77429727 ADCY8 Nonsynonymous SNV A824V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 203708 chr13 48807513 48807513 T G ITM2B Nonsynonymous SNV F6C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 203709 chr5 32786414 32786414 G A NPR3 Nonsynonymous SNV R273Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 203710 chr17 19283235 19283235 G A rs369748158 MAPK7 Nonsynonymous SNV V125M 0.003 0 0 0 4 0 0 0 0 0 0 0 22.5 203711 chr8 145006140 145006140 C T rs369024560 PLEC Nonsynonymous SNV E701K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 203712 chr5 176011662 176011662 G A rs143224505 CDHR2 Nonsynonymous SNV V794I 0.004 0 0 0 5 0 0 0 0 0 0 0 7.091 203713 chr2 39181569 39181569 G A ARHGEF33 Nonsynonymous SNV R398H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 203714 chr5 176316411 176316411 G T HK3 Nonsynonymous SNV D295E 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 203715 chr8 145235109 145235109 C T MROH1 Nonsynonymous SNV A110V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 203716 chr13 110817303 110817303 G A rs140210015 COL4A1 Synonymous SNV Y1352Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.32 203717 chr9 26910434 26910434 T C rs150830660 PLAA Nonsynonymous SNV N497S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.078 203718 chr13 111340170 111340170 G A CARS2 Nonsynonymous SNV L157F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 203719 chr13 111870114 111870114 A C ARHGEF7 Nonsynonymous SNV K29T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 203720 chr5 179229021 179229021 G A rs748811491 MGAT4B Nonsynonymous SNV R31C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 203721 chr4 79458240 79458240 G A rs377701316 FRAS1 Synonymous SNV T3728T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 203722 chr22 32828429 32828429 G A rs139576658 BPIFC Synonymous SNV I360I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.6 203723 chr22 35789508 35789508 C T rs149487862 HMOX1 Nonsynonymous SNV R262C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.62 203724 chr1 167038173 167038173 C T rs201727201 GPA33 Nonsynonymous SNV R134H 0 0 0 1 0 0 0.003 0 0 0 0 0 17.37 203725 chr17 29848936 29848936 G A rs374177001 RAB11FIP4 Synonymous SNV A87A 0.004 0 0 0 5 0 0 0 0 0 0 0 14.38 203726 chr4 84350739 84350739 T C rs75238520 HELQ Nonsynonymous SNV K752R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.977 203727 chr4 84358227 84358227 T C rs77159209 HELQ Nonsynonymous SNV K544R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 203728 chr8 21903789 21903789 C T rs375504582 FGF17 Synonymous SNV D68D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.43 203729 chr5 70835469 70835469 G A rs765377788 BDP1 Synonymous SNV Q2005Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 203730 chr5 34937654 34937654 G A rs140595082 DNAJC21 Nonsynonymous SNV R221Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 203731 chr14 21866010 21866010 A G rs770627325 CHD8 Synonymous SNV L1675L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 203732 chr5 36680578 36680578 C T rs530745234 SLC1A3 Synonymous SNV P280P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.637 203733 chr22 38470938 38470938 C T rs149474436 PICK1 Synonymous SNV Y349Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 9.287 203734 chr22 38476989 38476989 G C rs138209611 SLC16A8 Synonymous SNV A352A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.8 203735 chr22 38477558 38477558 G A rs189345550 SLC16A8 Nonsynonymous SNV L163F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.8 203736 chr4 95194806 95194806 A G rs780500052 SMARCAD1 Synonymous SNV A107A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.39 203737 chr3 186570943 186570943 C T rs62622816 ADIPOQ Synonymous SNV P32P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.22 203738 chr14 23424355 23424355 G A rs146819079 HAUS4 Synonymous SNV S3S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.64 203739 chr8 30242796 30242796 A G rs763256314 RBPMS-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.526 203740 chr8 30694338 30694338 T C rs142159772 TEX15 Synonymous SNV P3154P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 6.857 203741 chr17 38711676 38711676 A G rs759228506 CCR7 Nonsynonymous SNV I89T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 203742 chr8 37593705 37593705 T C rs767233469 LOC102723701 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 203743 chr5 109178056 109178056 C T MAN2A1 Nonsynonymous SNV S865F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 203744 chr8 42287719 42287719 G A rs116795654 SLC20A2 Synonymous SNV G524G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.887 203745 chr22 45595785 45595785 G A rs780041103 KIAA0930 Synonymous SNV S328S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.51 203746 chr5 118832244 118832244 C G rs1143650 HSD17B4 Nonsynonymous SNV T274S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 6.663 203747 chr22 45767413 45767413 A G rs75007763 SMC1B Synonymous SNV L751L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.367 203748 chr5 118865612 118865612 C T rs2560722 HSD17B4 Synonymous SNV V579V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 16.34 203749 chr5 92924080 92924080 G A NR2F1 Synonymous SNV E307E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.23 203750 chr8 6357446 6357446 C G rs759545352 MCPH1 Nonsynonymous SNV A737G 0.003 0.005 0.003 2 4 2 0.005 1 0 0 0 0 Uncertain significance 32 203751 chr5 118970179 118970179 C T rs536579007 FAM170A Nonsynonymous SNV H199Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 203752 chr1 182921946 182921946 G A SHCBP1L Nonsynonymous SNV P108L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 203753 chr22 45946460 45946460 C T rs138534271 FBLN1 Synonymous SNV F554F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 20.1 203754 chr5 121487971 121487971 G T rs114373483 ZNF474 Nonsynonymous SNV V96L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.118 203755 chr8 6669247 6669247 G A XKR5 Synonymous SNV T511T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.2 203756 chr8 67425791 67425791 G A rs762472338 VXN Nonsynonymous SNV R120Q 0 0 0.007 2 0 0 0.005 2 0 0 0 0 32 203757 chr17 39657600 39657600 G A rs139279979 KRT13 Nonsynonymous SNV P420L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.39 203758 chr5 132159772 132159772 - C SHROOM1 Frameshift insertion T528Hfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 203759 chr14 52433339 52433339 C T rs61740049 GNG2 Synonymous SNV L50L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.49 203760 chr5 133914661 133914661 T A rs955235691 JADE2 Nonsynonymous SNV L677Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.895 203761 chr3 112357697 112357699 GGT - rs763734561 CCDC80 T352del 0.001 0 0 0 1 0 0 0 0 0 0 0 203762 chr8 95404019 95404019 T C RAD54B Nonsynonymous SNV I359V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.61 203763 chr5 13824346 13824346 C A DNAH5 Nonsynonymous SNV V2181F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 203764 chr22 50885628 50885628 G A rs146489206 SBF1 Synonymous SNV D1850D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 13.58 203765 chr14 59797301 59797301 G C rs376568708 DAAM1 Nonsynonymous SNV Q485H 0 0.005 0 0 0 2 0 0 0 0 0 0 21 203766 chr14 62245617 62245617 G C rs149182738 SNAPC1 Nonsynonymous SNV V272L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.19 203767 chr14 62259562 62259562 A - rs142539160 SNAPC1 S339Vfs*2 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 203768 chr14 68233027 68233027 C T rs780544451 ZFYVE26 Synonymous SNV T1976T 0 0.005 0 0 0 2 0 0 0 0 0 0 12.26 203769 chr5 98207893 98207893 T C rs149953621 CHD1 Synonymous SNV P1241P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.325 203770 chr6 100061153 100061153 C A rs375253385 PRDM13 Synonymous SNV G214G 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.367 203771 chr14 69792086 69792086 A G rs141045703 GALNT16 Nonsynonymous SNV Q156R 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 18.7 203772 chr14 70039181 70039181 C A rs971462943 CCDC177 Nonsynonymous SNV A387S 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 18.9 203773 chr17 53852178 53852178 G A rs79806530 PCTP Synonymous SNV P107P 0.002 0 0 0 2 0 0 0 0 0 0 0 15 203774 chr14 71051632 71051632 A G MED6 Nonsynonymous SNV Y175H 0 0.005 0 0 0 2 0 0 0 0 0 0 5.243 203775 chr1 204198204 204198204 A C rs780934201 PLEKHA6 Nonsynonymous SNV V871G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 203776 chr14 73720603 73720603 G T PAPLN Nonsynonymous SNV K412N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 203777 chr5 140731979 140731979 G T rs762914864 PCDHGB1 Nonsynonymous SNV D718Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 203778 chr1 204380230 204380230 T C rs371260745 PPP1R15B Nonsynonymous SNV S104G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 203779 chr1 204423875 204423875 T A rs373469473 PIK3C2B Nonsynonymous SNV K663M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.7 203780 chr5 141243054 141243054 C A rs772914406 PCDH1 Nonsynonymous SNV D569Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 203781 chr17 59760881 59760881 - A rs777367075 BRIP1 Frameshift insertion I1176Yfs*13 0.003 0 0 0 3 0 0 0 0 0 0 0 203782 chr2 120413974 120413974 C T rs527630789 CFAP221 Synonymous SNV A817A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.39 203783 chr17 61466768 61466768 A C rs764514238 TANC2 Nonsynonymous SNV T898P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.74 203784 chr14 81609926 81609926 G A rs148477562 TSHR Synonymous SNV S508S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.086 203785 chr5 149404203 149404203 A G rs954038299 HMGXB3 Nonsynonymous SNV S308G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.792 203786 chr14 91700546 91700546 G C rs774978855 GPR68 Synonymous SNV P283P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.752 203787 chr9 128074793 128074793 T A rs747043980 GAPVD1 Nonsynonymous SNV S502T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 203788 chr2 144193241 144193241 C T rs146868356 ARHGAP15 Synonymous SNV H182H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.59 203789 chr14 94528529 94528529 C T rs759118176 DDX24 Nonsynonymous SNV R386H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 203790 chr14 94772451 94772451 T C rs756512109 SERPINA6 Nonsynonymous SNV N330S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 203791 chr17 72739318 72739318 T C rs201235359 RAB37 Synonymous SNV Y62Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 203792 chr6 132211536 132211536 G A rs769460781 ENPP1 Nonsynonymous SNV R888Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 203793 chr1 216074236 216074236 C T rs370988961 USH2A Nonsynonymous SNV V2438M 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 24.4 203794 chr2 152507184 152507184 A T NEB Nonsynonymous SNV S2377R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 203795 chr5 153835526 153835526 A T rs768915003 SAP30L Nonsynonymous SNV M123L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.05 203796 chr3 66431044 66431044 C G LRIG1 Synonymous SNV L1004L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.032 203797 chr6 161006084 161006084 G A rs76144756 LPA Nonsynonymous SNV P1428L 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.1 203798 chr9 134136305 134136305 G A rs138351212 FAM78A Synonymous SNV S252S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 11.05 203799 chr14 103958304 103958304 T C rs201476879 MARK3 Synonymous SNV L514L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.173 203800 chr2 166894544 166894544 G T SCN1A Synonymous SNV V896V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.291 203801 chr6 170627803 170627803 A G rs61733630 FAM120B Nonsynonymous SNV D454G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.799 203802 chr3 9796509 9796509 A G rs769130426 OGG1 Synonymous SNV R229R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.95 203803 chr14 105707747 105707747 C T rs144658695 BRF1 Synonymous SNV P156P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.62 203804 chr9 139257459 139257459 G A rs201037777 DNLZ Nonsynonymous SNV S117L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 203805 chr15 28427616 28427616 C T rs774694425 HERC2 Synonymous SNV T2956T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.09 203806 chr9 139641998 139641998 G A rs149829162 LCN6 Synonymous SNV Y36Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.066 203807 chr15 33261184 33261184 C T rs370019638 FMN1 Synonymous SNV P683P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.814 203808 chr9 139981001 139981001 T A rs144872844 MAN1B1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 203809 chr15 34163159 34163159 T C rs776286550 AVEN Nonsynonymous SNV N197D 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 203810 chr9 15564123 15564123 C G rs780709459 CCDC171 Nonsynonymous SNV Q13E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 203811 chr15 41866015 41866015 - ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCC TYRO3 0 0.003 0 0 0 1 0 0 0 0 0 0 203812 chr15 42116237 42116237 G A MAPKBP1 Synonymous SNV G1397G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.156 203813 chr6 17120886 17120886 G A rs534656316 STMND1 Nonsynonymous SNV R103Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 203814 chr9 2718065 2718065 A G rs140189519 KCNV2 Nonsynonymous SNV Q109R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 203815 chr5 38482057 38482057 C T rs148354076 LIFR Synonymous SNV Q978Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.32 203816 chr5 40691885 40691885 G A PTGER4 Nonsynonymous SNV R291Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 203817 chr6 36645637 36645637 G C CDKN1A Nonsynonymous SNV Q8H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.727 203818 chr15 43020929 43020929 C T rs745824109 CDAN1 Nonsynonymous SNV G909R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.9 203819 chr18 6959394 6959394 G A rs76482057 LAMA1 Nonsynonymous SNV T2575M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 6.983 203820 chr5 42719373 42719373 T A GHR Synonymous SNV S566S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.044 203821 chr9 35957624 35957624 C T rs201397337 OR2S2 Nonsynonymous SNV V158M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 203822 chr9 5968056 5968056 G T rs374180873 KIAA2026 Synonymous SNV I725I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.589 203823 chr6 41752753 41752753 G C rs774787046 PRICKLE4 Synonymous SNV L107L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.697 203824 chr6 41754518 41754518 G C PRICKLE4 Nonsynonymous SNV R269P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.705 203825 chr4 147741347 147741347 G A rs770355496 TTC29 Nonsynonymous SNV A344V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 203826 chr6 42957387 42957387 C G PPP2R5D Nonsynonymous SNV S22R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 203827 chr5 56545386 56545386 C T rs138655196 GPBP1 Nonsynonymous SNV R326C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 203828 chr9 77454985 77454985 C A rs141014694 TRPM6 Nonsynonymous SNV A162S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 203829 chr2 196801401 196801401 C T rs745950499 DNAH7 Nonsynonymous SNV R1065H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 35 203830 chr4 153889164 153889164 A T FHDC1 Nonsynonymous SNV H378L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 203831 chr9 82333772 82333772 G A rs750633734 TLE4 Synonymous SNV A398A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 203832 chr1 248112952 248112952 C T rs145507153 OR2L8 Stop gain R265X 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 203833 chr15 59480316 59480316 C T MYO1E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 203834 chr3 38646340 38646340 C A rs776541865 SCN5A Nonsynonymous SNV L466F 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 23.6 203835 chr6 39688551 39688551 T C rs114269617 KIF6 Nonsynonymous SNV S35G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.13 203836 chr9 97365774 97365774 G A rs28369776 FBP1 Synonymous SNV A302A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 8.931 203837 chr3 39229172 39229172 C T rs201904173 XIRP1 Nonsynonymous SNV G589S 0.004 0 0 0 5 0 0 0 0 0 0 0 22.5 203838 chrM 1963 1963 A G RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 203839 chr6 42897387 42897387 G T rs755380765 CNPY3, CNPY3-GNMT Nonsynonymous SNV A27S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 9.44 203840 chr1 26671375 26671375 A G rs538385557 CRYBG2 Nonsynonymous SNV S592P 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 2.212 203841 chr18 48190815 48190815 G A rs376363938 MAPK4 Nonsynonymous SNV V163M 0.003 0 0 0 4 0 0 0 0 0 0 0 24.8 203842 chr1 29650233 29650233 C T rs773027767 PTPRU Nonsynonymous SNV H1346Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 203843 chr15 74219281 74219281 A C LOXL1 Nonsynonymous SNV S53R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 203844 chr15 74708225 74708225 G T SEMA7A Nonsynonymous SNV N287K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 203845 chr15 75012913 75012913 C T rs749223641 CYP1A1 Nonsynonymous SNV V457M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.696 203846 chr6 48036122 48036122 G T PTCHD4 Nonsynonymous SNV S90R 0.003 0 0 0 3 0 0 0 0 0 0 0 24 203847 chr5 94208854 94208854 C T rs374050117 MCTP1 Nonsynonymous SNV V409I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 203848 chr6 49582567 49582567 C T RHAG 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 203849 chr15 81517772 81517772 G A rs183847813 IL16 Nonsynonymous SNV R11K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.57 203850 chr6 56483952 56483952 C T DST Nonsynonymous SNV S1627N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.647 203851 chr4 27010553 27010553 C T STIM2 Nonsynonymous SNV P473L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 203852 chr4 3076615 3076615 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 203853 chr6 71235220 71235220 T C FAM135A Synonymous SNV P582P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 203854 chrX 70346878 70346878 G A MED12 Synonymous SNV V915V 0 0 0.007 0 0 0 0 2 0 0 1 0 12.69 203855 chr6 97458137 97458137 T C rs1031015881 KLHL32 Nonsynonymous SNV I3T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.22 203856 chr1 43738540 43738540 C T rs750358292 TMEM125 Synonymous SNV G49G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.23 203857 chrX 99551403 99551403 G C rs191333060 PCDH19 Nonsynonymous SNV R1060G 0.003 0.005 0.017 5 3 2 0.013 5 0 1 2 2 Conflicting interpretations of pathogenicity 24.2 203858 chr10 102239656 102239656 T C rs145002739 WNT8B Nonsynonymous SNV V43A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 203859 chr15 90983786 90983786 G A IQGAP1 Nonsynonymous SNV M196I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 203860 chr2 237246849 237246849 G A rs779686716 IQCA1 Synonymous SNV Y670Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.643 203861 chr15 93518147 93518147 G A CHD2 Synonymous SNV Q848Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.763 203862 chr10 112350186 112350186 T C rs762645837 SMC3 Nonsynonymous SNV I509T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 203863 chr1 53927184 53927184 C G DMRTB1 Nonsynonymous SNV P206A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 203864 chr15 99023923 99023923 A C rs773684554 FAM169B Nonsynonymous SNV D30E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 203865 chr10 11504687 11504687 G A rs41291253 USP6NL Nonsynonymous SNV T764M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.1 203866 chr1 54605320 54605320 - T CDCP2 Frameshift insertion P408Hfs*46 0 0 0 1 0 0 0.003 0 0 0 0 0 203867 chr6 143074727 143074727 A T rs368336925 HIVEP2 Synonymous SNV G2286G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 203868 chr6 144093582 144093584 GGC - PHACTR2 G394del 0.001 0 0 0 1 0 0 0 0 0 0 0 203869 chr10 11653766 11653766 T C rs1017591548 LOC107984208 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 203870 chr4 5990506 5990506 G A rs148575061 C4orf50 Synonymous SNV N910N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.476 203871 chr2 23926614 23926614 G A rs768204340 KLHL29 Synonymous SNV T775T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.51 203872 chr2 240944673 240944673 G A rs867590265 NDUFA10 Nonsynonymous SNV P282S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 203873 chr10 119043175 119043175 C T rs147188948 PDZD8 Synonymous SNV L1023L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.979 203874 chr16 135582 135582 G A rs866593837 MPG Nonsynonymous SNV D230N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 203875 chr3 97686127 97686127 C T rs746870428 RIOX2 Nonsynonymous SNV R104Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 203876 chr10 121663713 121663713 G A SEC23IP Nonsynonymous SNV R342H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 203877 chr1 6314743 6314743 C T rs74626631 GPR153 Nonsynonymous SNV D75N 0 0 0 3 0 0 0.008 0 0 0 0 0 24.8 203878 chr16 840267 840267 G A rs114140868 CHTF18 Nonsynonymous SNV E233K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.29 203879 chr3 9957321 9957321 C T rs935303416 IL17RE Nonsynonymous SNV R496C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 203880 chr7 100850928 100850928 C G rs762468045 PLOD3 Nonsynonymous SNV Q622H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 203881 chr4 71570975 71570975 - GCG RUFY3 G112_S113insG 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 203882 chr10 126523105 126523105 G A rs752864083 ABRAXAS2 Synonymous SNV P271P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.303 203883 chr4 74007473 74007473 G A ANKRD17 Nonsynonymous SNV P660S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 203884 chr16 1538844 1538844 C T rs763191759 PTX4 Nonsynonymous SNV A23T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.272 203885 chr1 74507405 74507405 T C rs752156868 LRRIQ3 Nonsynonymous SNV M404V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.001 203886 chr6 158454667 158454667 C T rs192173247 SYNJ2 Synonymous SNV G222G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 203887 chr16 1817237 1817237 G A rs377112816 MAPK8IP3 Nonsynonymous SNV R1052H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 203888 chr10 131565137 131565137 G A rs777316575 MGMT Stop gain W167X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 203889 chr2 31399482 31399482 C T rs73921555 CAPN14 Nonsynonymous SNV G667S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 203890 chr10 135267532 135267532 G C rs984529721 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.427 203891 chr7 128446344 128446344 C A rs756839463 CCDC136 Nonsynonymous SNV S381R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 203892 chr2 32673884 32673884 A G rs150651833 BIRC6 Synonymous SNV P1502P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 9.503 203893 chr2 32743940 32743940 A C rs1005224815 BIRC6 Synonymous SNV G3850G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.109 203894 chr16 4675006 4675006 C G rs747892957 MGRN1 Nonsynonymous SNV I15M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 203895 chr7 134849488 134849488 C A rs148014348 TMEM140 Nonsynonymous SNV Q99K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 203896 chr7 123672456 123672456 - GCT rs748700789 TMEM229A Q200_R201insQ 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 203897 chr7 135366424 135366424 C T rs137894236 SLC13A4 Nonsynonymous SNV V591I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.476 203898 chr4 95496900 95496900 C A rs776676923 PDLIM5 Nonsynonymous SNV S20Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 203899 chr10 21784862 21784862 G C MIR1915HG 0 0 0.003 0 0 0 0 1 0 0 0 0 1.688 203900 chr10 22541552 22541552 G T rs778422092 LOC100130992 0 0 0.007 0 0 0 0 2 0 0 0 0 8.458 203901 chr16 10837734 10837734 C G rs191155488 NUBP1 Nonsynonymous SNV P5R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 203902 chr10 27324093 27324093 G A rs367849518 ANKRD26 Nonsynonymous SNV R1095W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 203903 chr7 129948225 129948225 G A rs61735964 CPA4 Nonsynonymous SNV A228T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.5 203904 chr1 93649650 93649650 G A rs749547604 CCDC18 Nonsynonymous SNV V84I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.798 203905 chr2 47273468 47273468 A G rs139010200 TTC7A Nonsynonymous SNV K252R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 203906 chr2 47277182 47277182 T C rs149602485 TTC7A Nonsynonymous SNV S318P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 203907 chr7 141861783 141861783 A C MGAM2 Synonymous SNV L821L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.07 203908 chr1 986734 986734 C T rs372556198 AGRN Synonymous SNV D1785D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 203909 chr2 54853229 54853229 C T rs76198367 SPTBN1 Nonsynonymous SNV A488V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 203910 chr16 20970576 20970576 G T rs34121503 DNAH3 Nonsynonymous SNV A3538D 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 32 203911 chr5 11411724 11411724 G A rs143717087 CTNND2 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 203912 chr5 115783167 115783167 T G rs774667554 SEMA6A Synonymous SNV A745A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.427 203913 chr7 141861783 141861783 A G MGAM2 Synonymous SNV L821L 0.003 0 0 0 3 0 0 0 0 0 0 0 2.592 203914 chr10 47087040 47087040 C G NPY4R, NPY4R2 Nonsynonymous SNV S86C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 203915 chr7 149511425 149511425 C G SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 7.484 203916 chr10 50193626 50193626 G T MIR4294 0 0 0.003 0 0 0 0 1 0 0 0 0 3.354 203917 chr10 50732097 50732097 T G rs140135643 ERCC6 Nonsynonymous SNV Y460S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 203918 chr5 132736589 132736589 C T FSTL4 Nonsynonymous SNV E84K 0.002 0 0 0 2 0 0 0 0 0 0 0 1.979 203919 chr7 151859708 151859708 G A KMT2C Nonsynonymous SNV L3652F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 203920 chr16 30544275 30544275 G A rs753100886 ZNF747 Nonsynonymous SNV R181C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 203921 chr7 149482753 149482753 T C SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 15.06 203922 chr16 31091076 31091076 C T rs113926102 ZNF646 Nonsynonymous SNV P1144L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.048 203923 chr16 46629560 46629560 C T SHCBP1 Synonymous SNV T378T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 203924 chr16 49315318 49315318 C T CBLN1 Nonsynonymous SNV R20H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 203925 chr16 56904613 56904613 G A SLC12A3 Nonsynonymous SNV A273T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 203926 chr10 72534952 72534952 C T rs760287886 TBATA Synonymous SNV P256P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 203927 chr7 2294756 2294756 C G rs1801077 SNX8 Nonsynonymous SNV A445P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.12 203928 chr10 74135578 74135578 G A MICU1 Synonymous SNV H213H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 203929 chr10 75258563 75258563 G A rs779266508 USP54 Stop gain R1565X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 203930 chr10 75290126 75290126 T C USP54 Nonsynonymous SNV R478G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.896 203931 chr7 2581029 2581029 G A rs759689169 BRAT1 Synonymous SNV A233A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.42 203932 chr7 20685585 20685585 T C ABCB5 Nonsynonymous SNV Y269H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 203933 chr7 20685595 20685595 A T ABCB5 Nonsynonymous SNV N272I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 203934 chr16 66426077 66426077 C T rs553436882 CDH5 Synonymous SNV I336I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 203935 chr16 66804174 66804174 T C TERB1 Synonymous SNV S437S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.184 203936 chr16 67575590 67575590 T G rs201779150 RIPOR1 Nonsynonymous SNV S333A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.572 203937 chr10 82298127 82298127 G A SH2D4B Nonsynonymous SNV E14K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 203938 chr5 14316799 14316799 G A TRIO Nonsynonymous SNV V560I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 203939 chr7 2583467 2583467 G A BRAT1 Nonsynonymous SNV P12L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.167 203940 chr16 72050980 72050980 G T rs768224976 DHODH Nonsynonymous SNV Q164H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.59 203941 chr10 90695274 90695274 T G ACTA2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 203942 chr5 145894457 145894457 C G GPR151 Nonsynonymous SNV W407S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 203943 chr3 121415714 121415714 C G rs144385283 GOLGB1 Nonsynonymous SNV R1139P 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Likely benign 8.944 203944 chr16 77850830 77850830 C G VAT1L Nonsynonymous SNV F82L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 203945 chr5 150563007 150563007 G A rs374122246 CCDC69 Synonymous SNV L294L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.22 203946 chr7 47853028 47853028 G A rs147344260 C7orf69 0.003 0 0 0 4 0 0 0 0 0 0 0 0.566 203947 chr7 3991473 3991473 C T rs145950536 SDK1 Synonymous SNV T357T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 203948 chr7 4026932 4026932 C G SDK1 Stop gain Y703X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 203949 chr16 83065753 83065753 G A rs369916041 CDH13 Nonsynonymous SNV R99Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.58 203950 chr5 154311745 154311745 C T rs770053999 GEMIN5 Nonsynonymous SNV R192Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 203951 chr16 84215002 84215002 C G rs769724756 TAF1C Nonsynonymous SNV D60H 0 0.005 0 0 0 2 0 0 0 0 0 0 24.9 203952 chr16 88664656 88664656 A G rs149632151 ZC3H18 Synonymous SNV L253L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 203953 chr16 88786227 88786227 G A PIEZO1 Synonymous SNV N2102N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 203954 chr5 172395604 172395604 T C RPL26L1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 203955 chr5 175815317 175815317 G C NOP16 Nonsynonymous SNV H40Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 203956 chr16 88930769 88930769 T C rs770312100 PABPN1L Nonsynonymous SNV N225D 0 0.003 0 0 0 1 0 0 0 0 0 0 26 203957 chr20 60991862 60991864 CTC - RBBP8NL E89del 0 0 0 2 0 0 0.005 0 0 0 0 0 203958 chr17 649854 649854 G A rs375394486 GEMIN4 Nonsynonymous SNV R477W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 203959 chr7 73246029 73246029 C T rs139694614 CLDN4 Synonymous SNV V166V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.316 203960 chr11 117117531 117117531 T C rs781270940 RNF214 Synonymous SNV L276L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.296 203961 chr3 152058229 152058229 T - rs575925832 TMEM14EP 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 203962 chr7 94049915 94049915 C T rs372783567 COL1A2 Synonymous SNV N750N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.958 203963 chr7 99757654 99757654 C T rs144461733 GAL3ST4 Nonsynonymous SNV R453H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.4 203964 chr8 101164110 101164110 A G POLR2K Synonymous SNV G40G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.561 203965 chr8 101225635 101225635 A G rs373038988 SPAG1 Nonsynonymous SNV I472V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 15.1 203966 chr7 100730882 100730882 G A rs763005908 TRIM56 Nonsynonymous SNV G97R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 203967 chr11 123900752 123900752 T C rs375042731 OR10G8 Synonymous SNV T141T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 203968 chr21 33949097 33949097 C A rs748823469 C21orf59-TCP10L, TCP10L Nonsynonymous SNV R212L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 203969 chr21 34922034 34922034 C T rs140389869 SON Nonsynonymous SNV A166V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 11.11 203970 chr11 1249995 1249995 C T rs758598055 MUC5B Nonsynonymous SNV P326S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 203971 chr3 186502394 186502394 T C EIF4A2 Synonymous SNV N39N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.187 203972 chr7 12610578 12610578 C T rs116907627 SCIN Stop gain R56X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 203973 chr3 189688667 189688667 T C rs116310842 P3H2 Nonsynonymous SNV M430V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 203974 chr5 6611159 6611159 C T rs554332775 NSUN2 Nonsynonymous SNV A344T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21 203975 chr17 7678610 7678610 G A rs770055899 DNAH2 Nonsynonymous SNV G1591S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 203976 chr11 133805627 133805627 G T rs766326556 IGSF9B Synonymous SNV I284I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 203977 chr5 71757054 71757054 G T rs148388764 ZNF366 Nonsynonymous SNV H90Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 203978 chr11 17482192 17482192 C T rs199616008 ABCC8 Nonsynonymous SNV R285Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.82 203979 chr19 46287944 46287944 T C rs531168197 DMWD Synonymous SNV T644T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.758 203980 chr11 17632131 17632131 T A OTOG Nonsynonymous SNV S1774T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 203981 chr8 135614414 135614414 T C ZFAT Synonymous SNV L454L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.052 203982 chr8 142204210 142204210 G A rs778413462 DENND3 Nonsynonymous SNV V1239M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 203983 chr11 19247287 19247287 G C rs148337173 E2F8 Nonsynonymous SNV P673R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 25.3 203984 chr17 10535838 10535838 C T rs761510494 MYH3 Synonymous SNV A1637A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 203985 chr7 142962278 142962278 - C rs771944896 GSTK1 Frameshift insertion G161Rfs*26 0.002 0 0 0 2 0 0 0 0 0 0 0 203986 chr5 80064745 80064745 A C rs752400305 MSH3 Nonsynonymous SNV I726L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.471 203987 chr17 16336996 16336996 G A rs199696226 TRPV2 Nonsynonymous SNV E700K 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.5 203988 chr19 49686029 49686064 CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT - rs878855029 TRPM4 K133_L144del 0.006 0.003 0.003 2 7 1 0.005 1 0 0 0 0 203989 chr7 1538081 1538081 G A rs201662739 INTS1 Synonymous SNV T464T 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 5.987 203990 chr19 50338843 50338843 C G rs193291405 MED25 Nonsynonymous SNV A576G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 13.83 203991 chr17 26817516 26817516 G A rs11568462 SLC13A2 Synonymous SNV G141G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.1 203992 chr11 419605 419605 C T rs138865475 ANO9 Synonymous SNV L493L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.888 203993 chr17 26824265 26824265 A C rs142292882 SLC13A2 Nonsynonymous SNV N635T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.08 203994 chr3 42774418 42774418 G A rs371554766 CCDC13 Nonsynonymous SNV T519M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 203995 chr17 26856126 26856126 T C rs35240903 FOXN1 Synonymous SNV G238G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.253 203996 chr17 26879511 26879511 C A rs199714731 UNC119 Nonsynonymous SNV G22V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.6 203997 chr17 26906790 26906790 T C rs150963242 SPAG5 Nonsynonymous SNV M955V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 203998 chr17 27216004 27216004 G A rs115482131 FLOT2 Synonymous SNV G30G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.43 203999 chr17 27308421 27308421 A G rs200073631 SEZ6 Nonsynonymous SNV I231T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.682 204000 chr17 27448913 27448913 G A rs28556759 MYO18A Nonsynonymous SNV H384Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.34 204001 chr22 25294172 25294172 G A rs1045707589 SGSM1 Synonymous SNV R691R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.392 204002 chr17 33585885 33585885 A G rs73278963 SLFN5 Nonsynonymous SNV K59R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 6.862 204003 chr11 47434997 47434997 G A rs750069673 SLC39A13 Nonsynonymous SNV G195D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.31 204004 chr11 48185127 48185127 A G rs1036466057 PTPRJ Nonsynonymous SNV M1226V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 204005 chr17 34854377 34854377 T C rs113036400 MYO19 Synonymous SNV K630K 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign 0.925 204006 chr17 34871819 34871819 G A rs61745364 MYO19 Synonymous SNV R143R 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign 9.664 204007 chr7 2686809 2686809 G A TTYH3 Synonymous SNV G109G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 13.12 204008 chr7 2687090 2687090 G T TTYH3 Nonsynonymous SNV E148D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.4 204009 chr19 52942563 52942563 G A rs528145392 ZNF534 Nonsynonymous SNV R589Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.204 204010 chr8 22452143 22452143 C G PDLIM2 Nonsynonymous SNV P361R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.887 204011 chr8 24349646 24349646 T C rs759254943 LOC101929315 0.002 0 0 0 2 0 0 0 0 0 0 0 5.048 204012 chr22 37334340 37334340 C T rs143285765 CSF2RB Synonymous SNV P830P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.777 204013 chr7 32598585 32598585 C T rs779720657 AVL9 Nonsynonymous SNV R242W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 204014 chr8 27516206 27516206 T G rs374784860 SCARA3 Nonsynonymous SNV S173R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.5 204015 chr22 38120200 38120200 G T TRIOBP Nonsynonymous SNV R546L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.26 204016 chr8 29923657 29923657 - ATTGCTGCCAAACAAATATCCTAGTATTCCACCAGTTCCCAAGCCTGTCCAGAACCCTGGTCC SARAF 0.001 0.003 0 0 1 1 0 0 0 0 0 0 204017 chr7 40789074 40789074 T C rs370219826 SUGCT Synonymous SNV T336T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.107 204018 chr8 29927577 29927577 T A rs748368501 SARAF 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 204019 chr22 38341082 38341082 C G rs140055236 C22orf23 Nonsynonymous SNV A129P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.225 204020 chr8 3432550 3432550 C T CSMD1 Nonsynonymous SNV V421I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.969 204021 chr8 37609190 37609190 G A rs138164407 ERLIN2 Synonymous SNV K232K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.54 204022 chr6 151914298 151914298 C T rs183956853 CCDC170 Synonymous SNV A450A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 204023 chr3 56667651 56667651 C T rs61758809 TASOR Synonymous SNV E619E 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.56 204024 chr22 40657872 40657872 C A TNRC6B Nonsynonymous SNV T51K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 204025 chr22 41547971 41547971 G A EP300 Synonymous SNV V958V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.7 204026 chr8 41550195 41550195 C T rs148942046 ANK1 Nonsynonymous SNV V1277M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 204027 chr8 42176165 42176165 C T rs202136671 IKBKB Nonsynonymous SNV R444W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 35 204028 chr5 34918559 34918559 T C BRIX1 Synonymous SNV L84L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.475 204029 chr17 41006729 41006729 C T rs202218962 AOC3 Nonsynonymous SNV A622V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 204030 chr22 44324767 44324767 G A rs141106484 PNPLA3 Nonsynonymous SNV V162M 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Uncertain significance 26.7 204031 chr19 57065823 57065823 G A rs142195358 ZFP28 Nonsynonymous SNV G557R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 204032 chr17 43174504 43174504 G A rs150418753 NMT1 Nonsynonymous SNV R202Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 204033 chr3 99568332 99568332 T A rs142569410 FILIP1L Nonsynonymous SNV M490L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.2 204034 chr17 46002454 46002454 G A rs141135915 SP2 Synonymous SNV E514E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.08 204035 chr8 86041429 86041432 AGAG - rs770966471 LRRCC1 R104Ifs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 204036 chr8 94748520 94748520 A C RBM12B Nonsynonymous SNV I40S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.237 204037 chr17 48185536 48185536 G A PDK2 Synonymous SNV Q170Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 204038 chr17 48433448 48433448 C T XYLT2 Synonymous SNV S436S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 204039 chr8 98954005 98954005 C T rs199768448 MATN2 Nonsynonymous SNV T238M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.26 204040 chr9 107581949 107581949 A C rs35871586 ABCA1 Synonymous SNV V1053V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.138 204041 chr11 58940277 58940277 C G rs542075372 DTX4 Nonsynonymous SNV T70R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.5 204042 chr17 61678635 61678635 A G TACO1 Nonsynonymous SNV K65E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 204043 chr17 61781071 61781071 C T rs150880597 STRADA Nonsynonymous SNV R358H 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 23 204044 chr17 62133144 62133144 C T rs758467855 ERN1 Synonymous SNV S521S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.85 204045 chr17 65941577 65941577 A G BPTF Synonymous SNV Q2251Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 204046 chr5 79752802 79752802 T C rs1006013696 ZFYVE16 Synonymous SNV I1278I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 204047 chr9 116226120 116226120 G A rs145128645 RGS3 Nonsynonymous SNV R13Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 204048 chr9 116356458 116356458 G A rs145600648 RGS3 Nonsynonymous SNV V87I 0.005 0 0 1 6 0 0.003 0 0 0 0 0 2.061 204049 chr17 67045529 67045529 G C rs150105567 ABCA9 Nonsynonymous SNV R67G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.5 204050 chr17 67096950 67096950 G A rs757900822 ABCA6 Synonymous SNV S1000S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.474 204051 chr6 37605158 37605158 C T rs201115181 MDGA1 Nonsynonymous SNV A952T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 204052 chr17 71391337 71391337 G A rs146726977 SDK2 Synonymous SNV S1183S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.6 204053 chr8 100866454 100866454 C G VPS13B Nonsynonymous SNV H3638D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 204054 chr4 155529717 155529717 T C FGG Nonsynonymous SNV E251G 0.003 0 0 0 3 0 0 0 0 0 0 0 29 204055 chr2 128918839 128918839 A G rs781204881 UGGT1 Nonsynonymous SNV D941G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 204056 chr17 73500672 73500672 A C rs145322514 CASKIN2 Nonsynonymous SNV L350R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 204057 chr9 129870909 129870909 C T rs747467297 ANGPTL2 Synonymous SNV S34S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 204058 chr6 105845746 105845746 G A rs186413675 PREP Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 204059 chr2 136403046 136403046 A G rs764174391 R3HDM1 Synonymous SNV P395P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.83 204060 chr17 74097367 74097367 C T rs201972335 EXOC7 Synonymous SNV P93P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.57 204061 chr17 74134013 74134013 C T rs746222801 FOXJ1 Synonymous SNV A229A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 204062 chr2 140995759 140995759 C T rs758586821 LRP1B Nonsynonymous SNV G4508S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 204063 chr2 141459716 141459716 G A LRP1B Nonsynonymous SNV S2099F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 204064 chr2 144764858 144764858 T C rs145763899 GTDC1 Nonsynonymous SNV S256G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.535 204065 chr6 109768288 109768288 G A rs763500872 MICAL1 Nonsynonymous SNV H653Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 204066 chr11 65387022 65387022 G A rs199979292 PCNX3 Nonsynonymous SNV G574S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.38 204067 chr9 131022441 131022441 C T rs142411612 GOLGA2 Nonsynonymous SNV A557T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.71 204068 chr9 131454230 131454230 C T rs148209973 SET Synonymous SNV I88I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.29 204069 chr6 117631413 117631413 C T rs750308356 ROS1 Nonsynonymous SNV V2089M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 204070 chr11 6643613 6643613 C G rs754199674 DCHS1 Synonymous SNV L3098L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.275 204071 chr9 133780653 133780653 G A rs777259026 FIBCD1 Nonsynonymous SNV P365L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.9 204072 chr11 6739928 6739928 A G rs17262599 GVINP1 0 0 0.01 0 0 0 0 3 0 0 0 0 10.53 204073 chr11 67401721 67401721 C T rs151337371 TBX10 Nonsynonymous SNV R163H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 204074 chr9 136298605 136298605 C T rs142570561 ADAMTS13 Synonymous SNV C400C 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.27 204075 chr6 14131903 14131903 G A rs534299129 CD83 Synonymous SNV S102S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 8.72 204076 chr9 139400042 139400042 C T rs972063184 NOTCH1 Nonsynonymous SNV A1436T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.993 204077 chr20 56885036 56885036 G T RAB22A Nonsynonymous SNV A2S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.55 204078 chr9 141012489 141012489 C T rs200598077 CACNA1B Nonsynonymous SNV R1957C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 204079 chr4 41984395 41984395 G A rs139209766 DCAF4L1 Nonsynonymous SNV A196T 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 8.46 204080 chr18 13015389 13015389 C G rs117292623 CEP192 Nonsynonymous SNV H194Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.44 204081 chr11 7846599 7846599 T C rs61734816 OR5P3 Nonsynonymous SNV I307M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.204 204082 chr9 20948274 20948274 C T FOCAD Nonsynonymous SNV S1227L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 204083 chr8 16850664 16850664 G T FGF20 Nonsynonymous SNV Q185K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 204084 chr11 82888218 82888218 A G rs371262820 PCF11 Synonymous SNV K1414K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.599 204085 chr8 17417915 17417915 C G rs376928608 SLC7A2 Synonymous SNV T459T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.374 204086 chr6 159653576 159653576 T C rs770572495 FNDC1 Nonsynonymous SNV S678P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.776 204087 chr9 32550781 32550781 T C TOPORS Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 204088 chr9 32633815 32633815 T C rs758919868 TAF1L Nonsynonymous SNV N588S 0.001 0 0 5 1 0 0.013 0 0 0 0 0 4.735 204089 chr6 160509084 160509084 G A rs369118153 IGF2R Synonymous SNV T2075T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.48 204090 chr6 160525876 160525876 G A rs373123907 IGF2R Synonymous SNV E2412E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.68 204091 chr11 9055277 9055277 G T rs143295447 SCUBE2 Nonsynonymous SNV T535N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.07 204092 chr18 42530665 42530665 A G rs754292247 SETBP1 Nonsynonymous SNV N454D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.37 204093 chr9 20988396 20988396 T A rs774325844 FOCAD Nonsynonymous SNV S1658T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.55 204094 chr18 43484051 43484051 C T rs766875773 EPG5 Nonsynonymous SNV R1454H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 204095 chr18 47091793 47091793 C T rs554682739 LIPG Synonymous SNV V68V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.803 204096 chr8 24323274 24323274 G A rs140158202 ADAM7 Synonymous SNV T125T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.18 204097 chr21 32624065 32624065 G A rs746005569 TIAM1 Synonymous SNV S468S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.871 204098 chr21 33694203 33694203 C T rs370981347 URB1 Nonsynonymous SNV D1798N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 33 204099 chr21 34121006 34121006 C T rs753240237 PAXBP1 Nonsynonymous SNV R576Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 204100 chr9 33466646 33466646 C T rs763331277 NOL6 Nonsynonymous SNV R671H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 204101 chr18 56202326 56202326 G A rs375605840 ALPK2 Nonsynonymous SNV S1698L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.956 204102 chr9 72659511 72659511 G T MAMDC2 Nonsynonymous SNV A16S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 204103 chr7 103163968 103163968 T C RELN Nonsynonymous SNV T2454A 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.1 204104 chr7 105205739 105205739 A G rs776280054 RINT1 Synonymous SNV P293P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 8.722 204105 chr9 36671137 36671137 G A rs141614983 MELK Nonsynonymous SNV A419T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.263 204106 chr8 37623113 37623113 G T PLPBP Nonsynonymous SNV A57S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 204107 chr12 108936859 108936859 T C rs747290989 SART3 Nonsynonymous SNV N284S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.279 204108 chr2 219301848 219301850 TCT - rs774207140 VIL1 F660del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 204109 chr18 61468149 61468152 TGTC - rs534014297 SERPINB7 S200Lfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 204110 chr9 5920984 5920984 G A rs376164751 KIAA2026 Nonsynonymous SNV S1671F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 204111 chr7 117243663 117243663 C T rs121909034 CFTR Nonsynonymous SNV S912L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.977 204112 chr12 109967832 109967832 G A rs530625803 UBE3B Nonsynonymous SNV R922H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 204113 chr2 220357385 220357385 C T rs772205372 SPEG Synonymous SNV R3227R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.01 204114 chr18 74208408 74208408 C T rs760066404 C18orf65 0 0.003 0 0 0 1 0 0 0 0 0 0 6.249 204115 chr9 75524540 75524540 C T rs146756445 ALDH1A1 Nonsynonymous SNV A446T 0.004 0 0 0 5 0 0 0 0 0 0 0 27.7 204116 chr8 665934 665934 C T rs372926675 ERICH1 Synonymous SNV T32T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.439 204117 chr8 68062029 68062029 A G rs199996939 CSPP1 Nonsynonymous SNV R625G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 23.6 204118 chr12 117693837 117693837 G A rs184517883 NOS1 Nonsynonymous SNV P846L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 204119 chr2 225672638 225672638 T A rs778080607 DOCK10 Nonsynonymous SNV Y1186F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.7 204120 chr19 920706 920706 G A rs3746147 KISS1R Synonymous SNV A385A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.393 204121 chr8 75276222 75276222 G A rs773719264 GDAP1 Nonsynonymous SNV E175K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 204122 chr9 89771571 89771571 C T rs371880236 C9orf170 0.001 0 0 0 1 0 0 0 0 0 0 0 9.278 204123 chr12 121176419 121176419 C T rs748787327 ACADS Synonymous SNV Y293Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.968 204124 chr4 90170284 90170284 C T rs140068969 GPRIN3 Synonymous SNV A326A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.98 204125 chr8 91063955 91063955 C T rs377574337 DECR1 Synonymous SNV N312N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.073 204126 chr8 91081427 91081427 C T rs764575128 CALB1 Synonymous SNV L65L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.74 204127 chr7 139299059 139299059 G C rs755651674 HIPK2 Nonsynonymous SNV L628V 0.002 0 0 0 2 0 0 0 0 0 0 0 26 204128 chr7 139715651 139715651 A G rs1020448918 TBXAS1 Nonsynonymous SNV N391S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.683 204129 chr22 19210297 19210297 G A rs782066280 CLTCL1 Synonymous SNV I776I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.67 204130 chr12 124403240 124403240 G A DNAH10 Synonymous SNV K3632K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 204131 chr12 125298879 125298879 C T rs199588922 SCARB1 Nonsynonymous SNV G167S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.52 204132 chr7 143039500 143039500 G A rs763850295 CLCN1 Nonsynonymous SNV R611H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 204133 chr19 2989637 2989637 G A rs77968340 TLE6 Synonymous SNV A243A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 204134 chr12 133146696 133146696 C T rs566934494 FBRSL1 Synonymous SNV P292P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.779 204135 chr2 242615583 242615583 G A rs372231329 DTYMK Nonsynonymous SNV R157C 0 0 0 3 0 0 0.008 0 0 0 0 0 10.42 204136 chr5 134332164 134332164 C T rs775604213 CATSPER3 Nonsynonymous SNV R152C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 204137 chr19 5456227 5456227 C T rs752680787 ZNRF4 Nonsynonymous SNV P242L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.023 204138 chr19 6147561 6147561 C T rs570663483 ACSBG2 Stop gain R58X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 204139 chr19 6426491 6426491 C T rs780107497 SLC25A41 Nonsynonymous SNV R341Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 204140 chr19 6430130 6430130 - C rs764057309 SLC25A41 Frameshift insertion L136Afs*27 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 204141 chr9 117266759 117266759 T C WHRN Nonsynonymous SNV Q108R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25 204142 chr19 6712605 6712605 C T rs376875885 C3 Nonsynonymous SNV G345R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.2 204143 chr12 33049471 33049471 G A rs397517014 PKP2 Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.45 204144 chr2 30976014 30976014 C T rs368397722 CAPN13 Nonsynonymous SNV S331N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 204145 chr12 43896161 43896161 T G rs77277409 ADAMTS20 Nonsynonymous SNV M221L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 204146 chr12 43944945 43944945 T A rs374203301 ADAMTS20 Nonsynonymous SNV M74L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.764 204147 chrX 70823980 70823980 T C rs199853865 GCNA Nonsynonymous SNV S285P 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 204148 chr5 140909256 140909256 A G DIAPH1 Synonymous SNV L855L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.644 204149 chr9 130509531 130509531 G C rs61761895 SH2D3C Nonsynonymous SNV R229G 0.004 0.005 0.003 1 5 2 0.003 1 0 0 0 0 26.6 204150 chr12 51208108 51208108 C T ATF1 Nonsynonymous SNV S186L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 204151 chr9 131337070 131337070 C T rs201249013 SPTAN1 Synonymous SNV D160D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.06 204152 chr5 145894522 145894522 G A rs139276521 GPR151 Synonymous SNV D385D 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 4.561 204153 chr9 131704020 131704020 C G rs773119185 PHYHD1 Synonymous SNV A294A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.306 204154 chr22 46722512 46722512 G A rs201762133 GTSE1 Nonsynonymous SNV R562Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.14 204155 chr7 38431485 38431485 G C rs139940640 AMPH Nonsynonymous SNV T539R 0.002 0.005 0 0 2 2 0 0 1 0 0 0 0.047 204156 chr2 68772441 68772441 A G rs142312984 APLF Nonsynonymous SNV Y428C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 204157 chr2 68882517 68882517 G C rs369879000 PROKR1 Nonsynonymous SNV A331P 0 0 0 1 0 0 0.003 0 0 0 0 0 32 204158 chr19 9068115 9068115 G A rs61747870 MUC16 Nonsynonymous SNV T6444I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.71 204159 chr2 73613037 73613037 - GGAGGAGGA ALMS1 E28_A29insEEE 0 0 0 1 0 0 0.003 0 0 0 0 0 204160 chr9 136915512 136915512 G A rs200384607 BRD3 Nonsynonymous SNV T233M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 204161 chr9 136915586 136915586 G A rs200701608 BRD3 Synonymous SNV V208V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 204162 chr2 74136262 74136262 G A rs761490367 ACTG2 Synonymous SNV T106T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.42 204163 chr2 74474176 74474176 G A rs767916963 SLC4A5 Synonymous SNV V682V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.929 204164 chr2 84924774 84924774 G A rs374890236 DNAH6 Nonsynonymous SNV D2534N 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 32 204165 chr2 96956461 96956461 C T rs749484510 SNRNP200 Synonymous SNV K838K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.99 204166 chr2 97405637 97405637 C T rs756734542 LMAN2L Synonymous SNV T47T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 204167 chr9 140123217 140123217 G A RNF224 Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.603 204168 chr5 172659708 172659708 G A rs761596254 NKX2-5 Nonsynonymous SNV P280L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 7.811 204169 chr19 11558265 11558265 C T rs149732361 PRKCSH Synonymous SNV T287T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.68 204170 chr12 6559810 6559810 T C rs768228520 CD27-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.562 204171 chr19 12462100 12462100 C T rs143702602 ZNF442 Nonsynonymous SNV R31H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11 204172 chr19 14748917 14748917 C T rs138445869 ADGRE3 Nonsynonymous SNV R369Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 204173 chr9 35650832 35650832 G A rs141629430 SIT1 Nonsynonymous SNV R7W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.29 204174 chr19 16045183 16045183 C - rs760354403 CYP4F11 V14Wfs*61 0 0.003 0 0 0 1 0 0 0 0 0 0 204175 chr9 35751681 35751681 C G rs149109089 RGP1 Nonsynonymous SNV S231C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26 204176 chr9 35906595 35906595 A T HRCT1 Nonsynonymous SNV H104L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.87 204177 chr9 405016 405016 T G rs768845988 DOCK8 Synonymous SNV L1011L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.084 204178 chr9 6250549 6250549 A C IL33 Nonsynonymous SNV E15A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.535 204179 chr5 39135091 39135091 T C rs765243911 FYB1 Nonsynonymous SNV H524R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.8 204180 chr9 71395305 71395305 C G rs35278692 FAM122A Synonymous SNV A75A 0.004 0 0 0 5 0 0 0 0 0 0 0 11.38 204181 chr9 71534404 71534404 C T rs144530902 PIP5K1B Synonymous SNV G331G 0.003 0 0 0 4 0 0 0 0 0 0 0 15.47 204182 chr19 17514620 17514620 C G rs1804402 BST2 Nonsynonymous SNV V143L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.534 204183 chr12 96416019 96416019 G C rs138750397 LTA4H Nonsynonymous SNV P164R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 29.5 204184 chr19 17653045 17653045 C T rs765155411 NIBAN3 Nonsynonymous SNV P181L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.745 204185 chr3 123376237 123376237 C T MYLK Nonsynonymous SNV D1166N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 204186 chr9 77354303 77354303 T G TRPM6 Nonsynonymous SNV Q1845H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.766 204187 chr9 93606197 93606197 T C rs201350143 SYK Nonsynonymous SNV M6T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.986 204188 chr13 113803625 113803625 G A F10 Nonsynonymous SNV G377S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 204189 chr3 130113771 130113771 G A rs190666668 COL6A5 Nonsynonymous SNV D1011N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 204190 chr13 21217656 21217656 T C rs767524689 IFT88 Nonsynonymous SNV I534T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 204191 chr5 74400427 74400427 C T rs761444603 ANKRD31 Nonsynonymous SNV E1596K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.121 204192 chr13 25876009 25876009 G C NUP58 Nonsynonymous SNV G33A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 204193 chr5 78533393 78533393 A G JMY Nonsynonymous SNV Q307R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 204194 chr8 141595305 141595305 T C AGO2 Nonsynonymous SNV N43S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 204195 chr5 79034727 79034727 C T rs146272368 CMYA5 Nonsynonymous SNV P3380L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 204196 chr13 33344542 33344542 A G rs757093013 PDS5B Nonsynonymous SNV K1303R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 204197 chr3 138664551 138664551 G C rs375761943 FOXL2 Synonymous SNV T338T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.958 204198 chr13 35770069 35770069 G A rs201463728 NBEA Nonsynonymous SNV V1666I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.27 204199 chr19 36302897 36302897 G A rs145376615 PRODH2 Synonymous SNV P264P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 204200 chr7 20824457 20824457 C T rs755957403 SP8 Nonsynonymous SNV A327T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 204201 chrX 150565362 150565362 G C rs138128701 VMA21 Nonsynonymous SNV E17D 0.002 0.01 0 0 2 4 0 0 1 2 0 0 3.702 204202 chr10 124351992 124351992 C T rs118033581 DMBT1 Nonsynonymous SNV P784L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.684 204203 chrX 153175288 153175288 C T rs782144698 ARHGAP4 Nonsynonymous SNV R774Q 0.002 0.008 0 0 2 3 0 0 1 1 0 0 9.343 204204 chr10 128153351 128153351 A G rs144737013 C10orf90 Nonsynonymous SNV F483S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 204205 chrX 26235508 26235508 C T rs1031184722 MAGEB5 Synonymous SNV P30P 0.002 0 0 0 2 0 0 0 1 0 0 0 6.653 204206 chr3 15297853 15297853 C G rs115247149 SH3BP5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.603 204207 chr3 15301242 15301242 G C rs116027698 SH3BP5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.908 204208 chr19 39915995 39915995 C T PLEKHG2 Synonymous SNV N1230N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.107 204209 chr13 76287316 76287316 A C rs747648258 LMO7 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 204210 chr13 88328576 88328576 G A rs148634438 SLITRK5 Synonymous SNV A311A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.391 204211 chr8 145001874 145001874 G A rs782544250 PLEC Nonsynonymous SNV R1140W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 204212 chr13 98666315 98666315 G A rs182747248 IPO5 Synonymous SNV A724A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.95 204213 chr6 10942714 10942714 G C rs377173814 SYCP2L Synonymous SNV L612L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.076 204214 chr19 42224871 42224871 C G rs373325856 CEACAM5 Nonsynonymous SNV P601A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 204215 chr8 145641383 145641383 G A rs369544835 SLC39A4 Synonymous SNV R70R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.184 204216 chr14 103059377 103059377 - CCTCAGCCTCGGCCGCCGCCG RCOR1 A61_A62insSAAAASA 0 0 0.003 0 0 0 0 1 0 0 0 0 204217 chr19 42795482 42795482 C T rs767668514 CIC Synonymous SNV S854S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.57 204218 chr19 43965873 43965873 T G LYPD3 Nonsynonymous SNV D224A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 204219 chr10 135107241 135107241 C T rs528010171 TUBGCP2 Nonsynonymous SNV V87M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 204220 chr10 15255352 15255352 A G rs148987159 FAM171A1 Synonymous SNV D745D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.003 204221 chr14 20897097 20897097 C - rs370846570 KLHL33 A505Lfs*8 0.001 0 0.003 0 1 0 0 1 0 0 0 0 204222 chr14 21500121 21500121 G A rs9624 TPPP2 Nonsynonymous SNV R133H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 204223 chr19 45728157 45728157 C T rs765643980 EXOC3L2 Nonsynonymous SNV R140H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 204224 chr10 29822279 29822279 G A rs539012878 SVIL Synonymous SNV Y339Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.893 204225 chr10 113920499 113920499 C G GPAM Nonsynonymous SNV G541A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 204226 chr6 149771866 149771866 G A rs771740138 ZC3H12D Synonymous SNV L513L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.654 204227 chr19 47542673 47542673 C T rs572488731 NPAS1 Synonymous SNV H95H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.3 204228 chr19 47883026 47883026 C T rs139995746 DHX34 Synonymous SNV A922A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 204229 chr8 29197621 29197621 G A rs41277861 DUSP4 Synonymous SNV H191H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.667 204230 chr14 29247478 29247478 T C rs182913027 LINC01551 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 204231 chr14 33292801 33292801 T C AKAP6 Nonsynonymous SNV S1928P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.762 204232 chr14 35873788 35873788 C T rs779802553 NFKBIA Synonymous SNV K21K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.515 204233 chr11 10651126 10651126 C T rs754634620 MRVI1 Nonsynonymous SNV R169H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 204234 chr19 50311844 50311844 G A rs146451548 FUZ Synonymous SNV P279P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.79 204235 chr19 50342062 50342062 A G rs570852392 PTOV1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 15.14 204236 chr11 10524281 10524281 A C rs778522897 AMPD3 Nonsynonymous SNV Q460P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 204237 chr7 98609134 98609134 G T rs138339697 TRRAP Synonymous SNV R3728R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 204238 chr3 39179190 39179190 C T rs777670222 TTC21A Stop gain Q1181X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 204239 chr3 39306970 39306970 T C rs778278906 CX3CR1 Nonsynonymous SNV Y344C 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 204240 chr14 54997722 54997722 C T rs751536326 CGRRF1 Nonsynonymous SNV A175V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 204241 chr8 10465109 10465204 GGGCCTCTATACCTTCTGACTCTGGCTGGGCCTCCCCTTCTGCATCCTGGGCCTCTACACCTTCTGACTCAGGCTGGGCCTCCCCTTCAGCCTCTG - RP1L1 P2135_A2166del 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 204242 chr8 10466977 10466977 C T rs371249670 RP1L1 Nonsynonymous SNV R1544H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 22.6 204243 chr8 10468828 10468828 G T rs77230188 RP1L1 Nonsynonymous SNV T927N 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 0.319 204244 chr3 44285125 44285125 G C rs374160634 TOPAZ1 Nonsynonymous SNV S376T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 204245 chr8 10469425 10469425 G A RP1L1 Nonsynonymous SNV P728L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.024 204246 chr6 17764960 17764960 A G rs12211658 KIF13A Nonsynonymous SNV F1552S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 32 204247 chr8 10470764 10470764 T G rs75814156 RP1L1 Nonsynonymous SNV N282H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 11.68 204248 chr14 65220358 65220358 C T rs112462309 SPTB Nonsynonymous SNV A2167T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.086 204249 chr3 46063253 46063253 C A XCR1 Stop gain E63X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 204250 chr6 26033617 26033617 G A rs147664123 H2AC4 Synonymous SNV T60T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.81 204251 chr11 118404750 118404750 C A rs145299577 TMEM25 Synonymous SNV S133S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 204252 chr19 53770380 53770380 C T rs758489391 VN1R4 Nonsynonymous SNV R180H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.274 204253 chr3 46785580 46785580 T A rs748810478 PRSS45P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.03 204254 chr14 73685904 73685904 C T rs201453174 PSEN1 Synonymous SNV I437I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.28 204255 chr8 124089455 124089455 A T TBC1D31 Nonsynonymous SNV D61V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.2 204256 chr9 110249909 110249959 CAGGGCTGCCTTTGCTGACGCTGATGACCGACGGGCTGCCGTACTCGCTGC - rs869299423 KLF4 G239_P255del 0.002 0.003 0.007 2 2 1 0.005 2 0 0 0 0 204257 chr6 2766384 2766389 GGACGC - rs746493741 WRNIP1 A180_D181del 0.003 0 0 0 3 0 0 0 0 0 0 0 204258 chr3 49159017 49159017 G A rs151292828 LAMB2 Synonymous SNV R1703R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.257 204259 chr3 49756531 49756531 G A AMIGO3 Nonsynonymous SNV A123V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 204260 chr3 50129560 50129560 G A rs146767621 RBM5 Synonymous SNV R34R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.15 204261 chr14 88477678 88477678 G A rs181129859 GPR65 Nonsynonymous SNV E163K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.175 204262 chr9 117118312 117118312 G A AKNA Nonsynonymous SNV P865L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.418 204263 chr14 94914521 94914521 C T rs143826161 SERPINA11 Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.304 204264 chr10 91498730 91498730 C T rs35663373 KIF20B Synonymous SNV L1264L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.33 204265 chr10 91505704 91505704 A C rs76785586 KIF20B Synonymous SNV R1362R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.719 204266 chr19 56370230 56370230 G A rs141590255 NLRP4 Nonsynonymous SNV A491T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 204267 chr3 56681251 56681251 G A rs753717530 TASOR Nonsynonymous SNV S109L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 204268 chr10 95458103 95458103 T C rs1045147141 FRA10AC1 Nonsynonymous SNV H43R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 204269 chr3 62189548 62189548 C G rs201045391 PTPRG Synonymous SNV P693P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.92 204270 chr15 101592160 101592160 G A rs537117067 LRRK1 Synonymous SNV P1228P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 204271 chr6 4116142 4116142 A G rs986794885 ECI2 Nonsynonymous SNV V354A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 204272 chr11 15267547 15267549 CTT - INSC F479del 0.001 0 0 0 1 0 0 0 0 0 0 0 204273 chr11 1585112 1585112 G A rs552663309 DUSP8 Synonymous SNV D113D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.326 204274 chr3 74419076 74419076 C T rs150505018 CNTN3 Nonsynonymous SNV G242D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 204275 chr15 25277781 25277781 G A rs748900893 PWAR6 0 0 0.003 0 0 0 0 1 0 0 0 0 1.436 204276 chr6 43011287 43011287 C T rs752825990 CUL7 Nonsynonymous SNV R1169H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 204277 chr9 129642720 129642720 G A rs748259207 ZBTB34 Nonsynonymous SNV E344K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 204278 chr15 31515687 31515687 T C rs558626710 LOC283710 Synonymous SNV S112S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 204279 chr19 58153465 58153465 T A rs146505315 ZNF211 Stop gain Y476X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 204280 chr11 17594781 17594781 A T OTOG Nonsynonymous SNV H758L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.4 204281 chr9 131607649 131607649 C - KYAT1 I13Sfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 204282 chr10 71874030 71874030 A G rs558040718 AIFM2 Synonymous SNV S342S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.053 204283 chr8 1950048 1950048 G T rs570197059 KBTBD11 Nonsynonymous SNV Q230H 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 17.92 204284 chr8 1950049 1950049 C T rs532617363 KBTBD11 Synonymous SNV L231L 0.003 0.005 0.007 1 4 2 0.003 2 0 0 0 0 9.835 204285 chr9 136320444 136320444 G A rs61751476 ADAMTS13 Nonsynonymous SNV R1096H 0.007 0 0.003 0 8 0 0 1 0 0 0 0 Benign/Likely benign 0.009 204286 chr20 3199183 3199183 G A ITPA Nonsynonymous SNV G65R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 204287 chr20 3846624 3846624 C T rs769632733 MAVS Nonsynonymous SNV P344S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.945 204288 chr15 48802293 48802293 A G FBN1 Synonymous SNV H554H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.63 204289 chr6 80197006 80197006 A G LCA5 Synonymous SNV N603N 0.003 0 0 0 4 0 0 0 1 0 0 0 0.038 204290 chr10 91474861 91474861 G A rs766167617 KIF20B Nonsynonymous SNV V288I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 204291 chr4 13545716 13545716 G C rs202191746 NKX3-2 Nonsynonymous SNV A108G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 10.28 204292 chr4 140640939 140640939 G A MAML3 Synonymous SNV G985G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.19 204293 chr15 62241732 62241732 C G rs201577653 VPS13C Nonsynonymous SNV A1514P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 204294 chr15 62276185 62276185 T C rs370499816 VPS13C Nonsynonymous SNV Y540C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 204295 chr11 4406888 4406888 T C rs202233326 TRIM21 Nonsynonymous SNV E352G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 204296 chr11 11400648 11400648 G A rs150632547 GALNT18 Synonymous SNV H253H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.37 204297 chr11 114270825 114270825 C T C11orf71 Nonsynonymous SNV E77K 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 204298 chr20 20033195 20033195 C G rs148307781 CRNKL1 Nonsynonymous SNV R80P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.653 204299 chr8 48650520 48650520 C T rs199808557 CEBPD Nonsynonymous SNV D55N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 204300 chr20 20232392 20232392 C T rs761712376 CFAP61 Synonymous SNV T771T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.55 204301 chr11 4510493 4510493 C T rs147734448 OR52K1 Synonymous SNV A121A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.28 204302 chr20 20493783 20493783 A G rs201902175 RALGAPA2 Synonymous SNV H1410H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.036 204303 chr11 117266350 117266350 C G rs199637319 CEP164 Nonsynonymous SNV L1004V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.99 204304 chr15 72039268 72039268 C T rs772150439 THSD4 Nonsynonymous SNV R350C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 204305 chr20 32880312 32880312 C T AHCY Synonymous SNV V99V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.94 204306 chr15 73562533 73562533 G A rs774583216 NEO1 Nonsynonymous SNV V893I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.82 204307 chr15 74173771 74173771 A G rs773715654 TBC1D21 Nonsynonymous SNV E31G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 204308 chr20 34022403 34022403 G T GDF5 Nonsynonymous SNV S270R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 204309 chr20 43565298 43565298 C T rs781755238 PABPC1L Synonymous SNV H529H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.638 204310 chr15 84611785 84611785 G A rs143157214 ADAMTSL3 Nonsynonymous SNV C814Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 204311 chr20 52789948 52789948 G A rs920429090 CYP24A1 Synonymous SNV A57A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.424 204312 chr7 103293201 103293201 C T rs41276157 RELN Synonymous SNV P520P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 204313 chr7 105146716 105146716 A C rs369037610 PUS7 Nonsynonymous SNV S135A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.5 204314 chr15 87066167 87066167 C T rs753662054 AGBL1 Synonymous SNV P894P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.1 204315 chr11 134114863 134114863 C T rs144391409 VPS26B Synonymous SNV A251A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.95 204316 chr4 2307147 2307147 G A rs530190181 ZFYVE28 Nonsynonymous SNV A277V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.644 204317 chr15 89862296 89862296 G A rs181860632 POLG Nonsynonymous SNV R1047W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 204318 chr15 91548924 91548924 G A rs368931670 VPS33B Nonsynonymous SNV H317Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 204319 chr11 20066981 20066981 G A rs775292259 NAV2 Nonsynonymous SNV A309T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 204320 chr15 99678237 99678237 C T rs202124987 TTC23 Nonsynonymous SNV R441Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 204321 chr11 2426793 2426793 C T rs147507650 TRPM5 Nonsynonymous SNV V1119M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.094 204322 chr11 26547219 26547219 A G rs774120335 ANO3 Nonsynonymous SNV M98V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.68 204323 chrX 129837096 129837096 G C ENOX2 Nonsynonymous SNV P32R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 204324 chr16 1400205 1400205 C T rs200565292 TSR3 Nonsynonymous SNV R186Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.86 204325 chr16 14721154 14721154 T A PARN Nonsynonymous SNV T12S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 204326 chr16 14721161 14721161 G A PARN Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 204327 chr11 281300 281300 G C rs143558820 NLRP6 Synonymous SNV A522A 0 0.005 0 0 0 2 0 0 0 0 0 0 3.058 204328 chr21 32493056 32493056 T C rs111536576 TIAM1 Nonsynonymous SNV K502R 0.005 0.003 0.01 1 6 1 0.003 3 0 0 0 0 8.433 204329 chr16 1515308 1515308 T A rs538485246 CLCN7 Nonsynonymous SNV H58L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.65 204330 chrX 135126719 135126719 G A SLC9A6 Nonsynonymous SNV A648T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.451 204331 chr11 57947568 57947568 T C OR9Q1 Nonsynonymous SNV Y218H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 204332 chr5 34845605 34845605 G A rs75246236 TTC23L Nonsynonymous SNV E37K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.87 204333 chrX 140994261 140994261 T C rs58302943 MAGEC1 Synonymous SNV S357S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 204334 chr21 38269196 38269196 G C rs767190021 HLCS Nonsynonymous SNV A619G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 204335 chr16 2030421 2030421 A T rs202176564 NOXO1 Synonymous SNV T120T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 204336 chr16 2053001 2053001 C A rs752157276 ZNF598 Nonsynonymous SNV Q152H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 204337 chr7 141955483 141955483 G C PRSS58 Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.242 204338 chr11 58893358 58893358 C T rs767378484 FAM111B Synonymous SNV N566N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.7 204339 chr16 2143546 2143546 C T rs201220835 PKD1 Nonsynonymous SNV R3671Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 204340 chr21 41164000 41164000 A G IGSF5 Nonsynonymous SNV Y341C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 204341 chr16 2230316 2230316 C T rs374635440 CASKIN1 Nonsynonymous SNV R1018Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 204342 chr21 43339039 43339039 C G C2CD2 Nonsynonymous SNV D20H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 204343 chr21 43339040 43339040 C G C2CD2 Nonsynonymous SNV E19D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.179 204344 chr16 24166154 24166154 G C PRKCB Nonsynonymous SNV Q405H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 204345 chrX 19433303 19433303 G A rs770050395 MAP3K15 Synonymous SNV P504P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.574 204346 chr16 2764127 2764127 C T rs150690424 PRSS27 Synonymous SNV S47S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.455 204347 chr11 47296520 47296520 C T rs187671926 MADD Nonsynonymous SNV P157S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 204348 chr9 136913568 136913568 G A rs150276875 BRD3 Synonymous SNV G241G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.64 204349 chrX 30254076 30254076 G A MAGEB3 Nonsynonymous SNV R12H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.975 204350 chr21 45877182 45877190 ATCGCCTAC - LRRC3 I219_Y221del 0 0.003 0 0 0 1 0 0 0 0 0 0 204351 chr9 139233093 139233093 G A rs782334894 GPSM1 Synonymous SNV T300T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.583 204352 chr9 139311587 139311587 G T PMPCA Nonsynonymous SNV G142V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.7 204353 chr16 30939858 30939858 C T rs561775075 FBXL19 Nonsynonymous SNV P253L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 204354 chr16 31195288 31195288 T C rs376424892 FUS Synonymous SNV Y99Y 0 0 0.007 0 0 0 0 2 0 0 0 0 2.466 204355 chr5 74442318 74442318 T G ANKRD31 Nonsynonymous SNV N973T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 204356 chrX 53579387 53579387 G A HUWE1 Synonymous SNV S2922S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.12 204357 chr11 618669 618669 C T rs776284460 CDHR5 Synonymous SNV G624G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.221 204358 chrX 71352031 71352031 G A NHSL2 Nonsynonymous SNV S128N 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 204359 chrX 75003866 75003866 T C rs144474508 MAGEE2 Nonsynonymous SNV T341A 0.003 0 0 0 3 0 0 0 0 0 0 0 24 204360 chr16 4862181 4862181 G A rs188639121 GLYR1 Synonymous SNV D309D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.383 204361 chr16 49672577 49672577 G A ZNF423 Synonymous SNV D45D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.514 204362 chr22 21990907 21990907 T G rs369036169 CCDC116 Nonsynonymous SNV F464V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.754 204363 chr10 102738635 102738635 C T rs760610802 SEMA4G Nonsynonymous SNV R225W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 204364 chr10 104248007 104248007 C T rs201319387 ACTR1A Nonsynonymous SNV R72H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 204365 chr9 33294503 33294503 A C NFX1 Nonsynonymous SNV R37S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.7 204366 chr16 66998339 66998339 G A rs147541860 CES3 Nonsynonymous SNV A214T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.748 204367 chr7 31735179 31735179 A - rs761412804 PPP1R17 K62Nfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 204368 chr9 35042883 35042883 C A rs147909846 C9orf131 Nonsynonymous SNV A51D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.65 204369 chr22 28501425 28501425 A T rs561561490 TTC28 Nonsynonymous SNV L1050Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 204370 chr22 28501441 28501441 G T rs530119088 TTC28 Nonsynonymous SNV L1045M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 204371 chr16 69373293 69373293 C A rs758127135 COG8 Nonsynonymous SNV G55C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 204372 chr7 38807169 38807169 C G rs149665930 VPS41 Synonymous SNV L380L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 12.91 204373 chr10 115607033 115607033 A G DCLRE1A Synonymous SNV F729F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.43 204374 chr16 74729339 74729339 C A MLKL Nonsynonymous SNV S106I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.489 204375 chr9 72071237 72071237 C T rs201954883 APBA1 Nonsynonymous SNV V572M 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.9 204376 chr9 72724715 72724715 G C MAMDC2 Nonsynonymous SNV C167S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.7 204377 chr22 33327435 33327435 T C rs773096391 SYN3 Nonsynonymous SNV Y134C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 204378 chr16 82033454 82033454 G A rs144311554 SDR42E1 Synonymous SNV H148H 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 2.276 204379 chr16 83948765 83948765 G A rs747617187 MLYCD Nonsynonymous SNV V385M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.583 204380 chr10 124183740 124183740 C T rs369346661 PLEKHA1 Nonsynonymous SNV P236L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 204381 chr10 124325512 124325512 G A rs59446434 DMBT1 Nonsynonymous SNV A31T 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 18.8 204382 chr16 84163983 84163983 G C rs776013600 HSDL1 Nonsynonymous SNV L92V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.209 204383 chr10 124358420 124358420 C A rs2277242 DMBT1 Synonymous SNV V530V 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 16.79 204384 chr10 124377636 124377636 C T rs61622276 DMBT1 Synonymous SNV D908D 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 3.798 204385 chr10 124377660 124377660 C T rs59879555 DMBT1 Synonymous SNV N916N 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 11.2 204386 chr7 56150987 56150987 C T rs373331868 PHKG1 Synonymous SNV P168P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.41 204387 chr11 73100220 73100220 C T RELT Synonymous SNV F13F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.05 204388 chr22 42606957 42606957 T G TCF20 Nonsynonymous SNV E1452A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.421 204389 chr10 13699061 13699061 C - FRMD4A G534Afs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 204390 chr10 13699067 13699068 AT - FRMD4A I532Rfs*158 0.001 0 0 0 1 0 0 0 0 0 0 0 204391 chr10 16932454 16932454 C T rs150488625 CUBN Nonsynonymous SNV V2891I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 204392 chr11 56185153 56185153 C T rs61901985 OR5R1 Nonsynonymous SNV A186T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 204393 chr10 17750806 17750806 A G rs782315946 STAM Nonsynonymous SNV Y317C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 204394 chr22 46346006 46346006 G A WNT7B Nonsynonymous SNV A31V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 204395 chrX 130412664 130412664 C T rs780114018 IGSF1 Synonymous SNV P595P 0.004 0 0 0 5 0 0 0 2 0 0 0 12.78 204396 chr16 89258719 89258719 T G rs150055194 CDH15 Synonymous SNV P574P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 3.535 204397 chr17 10549104 10549104 G A rs367706009 MYH3 Nonsynonymous SNV T354M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 204398 chr17 1083003 1083003 G T rs377288858 ABR Synonymous SNV R7R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 204399 chr17 11455223 11455223 A G SHISA6 Synonymous SNV Q302Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.485 204400 chr7 98460829 98460829 G A rs201918406 TMEM130 Nonsynonymous SNV R94C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 204401 chr7 98569449 98569449 C T TRRAP Nonsynonymous SNV P2549S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.57 204402 chr11 57077132 57077132 C T rs149470322 TNKS1BP1 Nonsynonymous SNV R1018Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.453 204403 chr11 93460532 93460532 G A CEP295 Nonsynonymous SNV G2297E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.108 204404 chr7 99526574 99526574 G A GJC3 Nonsynonymous SNV H224Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 204405 chr7 99702674 99702674 G A rs371712994 AP4M1 Nonsynonymous SNV R234H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 204406 chr11 57467411 57467411 G A rs150286584 ZDHHC5 Nonsynonymous SNV G686S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 204407 chrX 15509317 15509317 C T PIR Nonsynonymous SNV A22T 0.003 0 0 0 3 0 0 0 1 0 0 0 28.1 204408 chr17 16836197 16836197 C T rs148262831 TBC1D27P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.509 204409 chrX 31496234 31496234 C T rs142128738 DMD Nonsynonymous SNV E247K 0 0.005 0 0 0 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 27.1 204410 chrX 44949166 44949166 C T rs201761273 KDM6A Nonsynonymous SNV P1164S 0 0.005 0 0 0 2 0 0 0 1 0 0 23.9 204411 chr17 18023155 18023155 G A rs527681283 MYO15A Synonymous SNV A347A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.071 204412 chr10 46970494 46970494 C A rs782036517 LOC102724488 Nonsynonymous SNV A107S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.26 204413 chrX 54783781 54783781 G A rs201881606 ITIH6 Nonsynonymous SNV S909L 0 0.005 0 0 0 2 0 0 0 1 0 0 0.171 204414 chrX 67937691 67937691 G A rs745819071 STARD8 Nonsynonymous SNV R232H 0 0.005 0 0 0 2 0 0 0 1 0 0 22.2 204415 chrX 71360204 71360204 A G rs148426364 NHSL2 Nonsynonymous SNV R936G 0 0.005 0.003 0 0 2 0 1 0 1 0 0 2.294 204416 chrX 41394210 41394210 A G rs199730401 CASK Synonymous SNV D695D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.091 204417 chr5 176722098 176722098 G A NSD1 Nonsynonymous SNV V2577M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.044 204418 chrX 100744856 100744856 T C rs186251783 ARMCX4 Nonsynonymous SNV M427T 0 0.005 0 0 0 2 0 0 0 1 0 0 0.424 204419 chr12 112819892 112819900 GCCGCCGCC - HECTD4 A13_A15del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 204420 chr8 126051091 126051091 A G rs150819213 WASHC5 Nonsynonymous SNV I874T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.9 204421 chr8 126443254 126443254 C A rs1047143776 TRIB1 Nonsynonymous SNV A37D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.93 204422 chr12 114832633 114832633 A G rs201212120 TBX5 Synonymous SNV N142N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 6.977 204423 chr10 6008184 6008184 C T rs146937451 IL15RA Synonymous SNV T33T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.19 204424 chrX 148039954 148039954 C G rs151043891 AFF2 Nonsynonymous SNV P527A 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign/Likely benign 27.2 204425 chr8 134108584 134108584 C T rs114539802 TG Synonymous SNV D2513D 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 17.41 204426 chr17 27065189 27065189 G C rs138066977 NEK8 Nonsynonymous SNV R383P 0 0 0.003 0 0 0 0 1 0 0 0 0 34 204427 chrY 21869893 21869893 G A rs768481960 KDM5D Nonsynonymous SNV A1052V 0 0.005 0 0 0 2 0 0 0 1 0 0 11.97 204428 chr1 879431 879431 T C rs139717535 SAMD11 Synonymous SNV Y648Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 204429 chr1 1007699 1007699 G A rs556764629 RNF223 Nonsynonymous SNV A83V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.3 204430 chr11 637537 637549 CCGCCGACCTCCT - rs587776842 DRD4 A79Sfs*21 0.003 0.003 0 0 3 1 0 0 0 0 0 0 204431 chr1 1119399 1119399 C T rs112690643 TTLL10 Synonymous SNV H323H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 204432 chr12 12232304 12232304 T C rs61733245 BCL2L14 Nonsynonymous SNV I22T 0.002 0 0 0 2 0 0 0 0 0 0 0 22 204433 chr1 1392533 1392533 G A rs138212031 ATAD3C Synonymous SNV A238A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.202 204434 chr10 104679623 104679623 A G CNNM2 Synonymous SNV E462E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.41 204435 chr11 6048771 6048771 G A rs1056419292 OR56A1 Nonsynonymous SNV T55I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.699 204436 chr10 105233385 105233385 T C rs201728558 CALHM3 Nonsynonymous SNV Q207R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.2 204437 chr11 64534503 64534508 GGCGGC - rs759814608 SF1 P369_P370del 0 0.003 0 0 0 1 0 0 0 0 0 0 204438 chr17 36925947 36925947 C T rs148207651 PIP4K2B Synonymous SNV T416T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 204439 chr11 61058961 61058961 G A VWCE Synonymous SNV C66C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.068 204440 chr12 12814330 12814330 T C rs3825268 GPR19 Synonymous SNV K351K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.375 204441 chr10 79795376 79795376 A G rs6496 RPS24 Synonymous SNV G59G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.129 204442 chr1 6228261 6228261 T A rs964095593 CHD5 Nonsynonymous SNV K52N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.78 204443 chr12 132204043 132204043 G A rs35562367 SFSWAP Nonsynonymous SNV V189I 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 6.717 204444 chr1 6527885 6527885 G A rs746496416 PLEKHG5 Nonsynonymous SNV S1004L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 204445 chr6 35755674 35755674 T C rs200011151 CLPSL1 Nonsynonymous SNV C85R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.4 204446 chr11 6238950 6238950 A - FAM160A2 A623Qfs*39 0.003 0 0.003 0 3 0 0 1 0 0 0 0 204447 chr11 6238961 6238961 G C FAM160A2 Nonsynonymous SNV R619G 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 4.159 204448 chr12 133220544 133220544 C T rs200776293 POLE Nonsynonymous SNV R1390H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 204449 chr11 63410839 63410839 C T rs371558262 ATL3 Synonymous SNV G262G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.05 204450 chr11 63742219 63742219 C T rs144339685 COX8A Nonsynonymous SNV R23C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.5 204451 chr12 19626205 19626205 T C rs56666201 AEBP2 Synonymous SNV G301G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.323 204452 chr11 64023878 64023878 G A rs776591631 PLCB3 Synonymous SNV L176L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.74 204453 chr1 10725412 10725412 C T rs376050510 CASZ1 Nonsynonymous SNV R78H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 204454 chr11 64067800 64067800 G A rs144624337 KCNK4-TEX40 0.002 0 0 0 2 0 0 0 0 0 0 0 9.088 204455 chr11 64118702 64118702 T C rs986215159 CCDC88B Nonsynonymous SNV V978A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 204456 chr11 6412973 6412973 A G SMPD1 Synonymous SNV P226P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.691 204457 chr11 6422651 6422651 G A rs34466697 APBB1 Synonymous SNV A284A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 204458 chr10 124399637 124399637 C T rs190602319 DMBT1 Nonsynonymous SNV R1585C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.2 204459 chr11 68773316 68773316 C T MRGPRF Synonymous SNV R154R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 204460 chr1 12082316 12082317 CT - MIIP L95Pfs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 204461 chr12 22040822 22040822 C T rs757681761 ABCC9 Nonsynonymous SNV D617N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.1 204462 chr11 6503427 6503427 T C rs145465075 TIMM10B Synonymous SNV P96P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.141 204463 chr1 14108881 14108881 T C rs754974518 PRDM2 Synonymous SNV L1330L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 204464 chr12 27167014 27167014 C T TM7SF3 Nonsynonymous SNV E30K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 204465 chr17 41046589 41046589 G A rs117951325 LINC00671 0 0 0.017 0 0 0 0 5 0 0 0 0 13.91 204466 chr5 76733171 76733171 A G WDR41 Synonymous SNV P361P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.311 204467 chr11 72084015 72084015 C T rs780554501 CLPB Stop gain W230X 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 38 204468 chr17 43138823 43138823 C T rs766535198 NMT1 Synonymous SNV N42N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 204469 chr11 6578661 6578661 G T DNHD1 Synonymous SNV G2712G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.288 204470 chr1 17395540 17395540 C T PADI2 Synonymous SNV X666X 0 0.003 0 0 0 1 0 0 0 0 0 0 14.08 204471 chr1 17395582 17395582 C T rs775072272 PADI2 Nonsynonymous SNV R652H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.5 204472 chr11 75509314 75509314 G A rs755755531 DGAT2 Synonymous SNV V241V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.422 204473 chr17 4463815 4463815 A G rs759932720 GGT6 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 204474 chr11 65984212 65984212 G A rs751067567 PACS1 Nonsynonymous SNV R315Q 0.003 0 0 0 3 0 0 0 0 0 0 0 28.4 204475 chr5 80626220 80626220 G A rs779809926 ACOT12 Nonsynonymous SNV T554I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 204476 chr11 6646868 6646868 G A rs746316145 DCHS1 Synonymous SNV R2274R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.493 204477 chr11 67076990 67076990 C A SSH3 Nonsynonymous SNV T395K 0.003 0 0 0 3 0 0 0 0 0 0 0 32 204478 chr11 8111646 8111646 A C rs533066502 TUB Nonsynonymous SNV K41Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.4 204479 chr12 4700416 4700416 G A DYRK4 Nonsynonymous SNV A24T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 204480 chr5 90012474 90012474 T - ADGRV1 S3126Pfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 204481 chr8 36722020 36722020 A G rs749940668 KCNU1 Nonsynonymous SNV I664V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 0.001 204482 chr17 48269150 48269150 T C COL1A1 Nonsynonymous SNV K709R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 204483 chr17 4847923 4847923 C T rs368189516 RNF167 Synonymous SNV P212P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.954 204484 chr11 6964395 6964395 T C rs34693834 ZNF215 Nonsynonymous SNV Y189H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 204485 chr11 7021878 7021878 G A rs61745735 ZNF214 Nonsynonymous SNV H346Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.487 204486 chr17 4877744 4877744 C T rs758213248 CAMTA2 Nonsynonymous SNV R653Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 204487 chr17 4923851 4923856 GGAACG - KIF1C E608_R609del 0 0 0.003 0 0 0 0 1 0 0 0 0 204488 chr17 49374333 49374333 C T rs768985330 UTP18 Nonsynonymous SNV H552Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 204489 chr12 49434872 49434872 G A KMT2D Synonymous SNV H2227H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.088 204490 chr12 49491782 49491782 G C rs765445858 LMBR1L Synonymous SNV L391L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.87 204491 chr11 7111376 7111376 G A rs150904312 RBMXL2 Nonsynonymous SNV R342Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 204492 chr1 22827991 22827991 G A rs200179557 ZBTB40 Nonsynonymous SNV V280M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 204493 chr10 28142245 28142245 A G rs7898085 ARMC4 Synonymous SNV L548L 0.006 0 0 4 7 0 0.01 0 3 0 0 2 1.64 204494 chr11 92532351 92532351 C T rs761098787 FAT3 Nonsynonymous SNV R2058C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 204495 chr11 72300219 72300219 G A rs141849669 PDE2A Synonymous SNV S306S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.34 204496 chr6 109586046 109586046 C G rs566095407 CCDC162P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.58 204497 chr12 51080389 51080389 C A rs148830732 DIP2B Nonsynonymous SNV S492Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 204498 chr12 51236806 51236806 C G rs202193246 TMPRSS12 Stop gain S20X 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 204499 chr12 52652188 52652188 G A rs140838924 KRT87P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.58 204500 chr12 52652194 52652194 T C rs537936067 KRT87P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.168 204501 chr11 74716990 74716990 C G NEU3 Nonsynonymous SNV P280R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 204502 chr6 116938360 116938360 T A rs754915761 RSPH4A Nonsynonymous SNV L192I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.099 204503 chr1 26598551 26598551 T C CEP85 Nonsynonymous SNV S27P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 204504 chr17 62029012 62029012 G A rs533858326 SCN4A Synonymous SNV P875P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.739 204505 chr12 53007464 53007464 G A rs190246683 KRT73-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.568 204506 chr1 28176716 28176716 G C rs36014119 PPP1R8 Nonsynonymous SNV S48T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.9 204507 chr11 78279697 78279697 A G rs374024785 NARS2 Nonsynonymous SNV I118T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.98 204508 chr1 28211835 28211835 C T rs61744137 THEMIS2 Nonsynonymous SNV R89C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.27 204509 chr1 28339656 28339656 C G rs139121002 EYA3 Nonsynonymous SNV M199I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.38 204510 chr1 29543155 29543155 G A rs113271042 MECR Synonymous SNV V23V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.78 204511 chr12 55688866 55688866 G A rs138420259 OR6C6 Nonsynonymous SNV P51S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 204512 chr11 118919562 118919562 C T rs147081612 HYOU1 Nonsynonymous SNV V677I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.144 204513 chr1 33478983 33478983 G A rs79403800 AK2 Synonymous SNV I131I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.813 204514 chr6 136562752 136562752 C T rs140221512 MTFR2 Nonsynonymous SNV R115Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 204515 chr12 56482614 56482614 C T rs140648008 ERBB3 Synonymous SNV I357I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.81 204516 chr12 110989650 110989650 A G rs147203978 PPTC7 Nonsynonymous SNV I116T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.34 204517 chr12 56630475 56630475 G A rs147783064 SLC39A5 Synonymous SNV T384T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.299 204518 chr1 35227231 35227231 G A rs146979528 GJB4 Nonsynonymous SNV G126R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 204519 chr1 36785995 36785995 G A SH3D21 Synonymous SNV E466E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.167 204520 chr1 36809520 36809520 G C STK40 Synonymous SNV P320P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.242 204521 chr1 36859470 36859470 G A rs78136170 LSM10 Synonymous SNV D87D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 204522 chr1 38227551 38227551 A T EPHA10 Nonsynonymous SNV F126I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 204523 chr1 38265486 38265486 A G MANEAL Nonsynonymous SNV N107D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 204524 chr9 108483856 108483856 A G rs745824524 TMEM38B Nonsynonymous SNV Q103R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.473 204525 chr11 12316353 12316353 - CTC MICALCL P470_T471insP 0.002 0 0 0 2 0 0 0 0 0 0 0 204526 chr6 149700563 149700563 G A rs773739464 TAB2 Synonymous SNV Q504Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.3 204527 chr11 93483574 93483574 G A C11orf54 Nonsynonymous SNV D21N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 204528 chr1 43685198 43685198 C T rs780754800 CFAP57 Nonsynonymous SNV T746I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 204529 chr17 73748352 73748352 G A rs769365580 ITGB4 Synonymous SNV T1297T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 204530 chr11 124950672 124950672 C T rs377331754 SLC37A2 Synonymous SNV I230I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 204531 chr1 44290523 44290523 C T rs113954699 ST3GAL3 Synonymous SNV S94S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.26 204532 chr1 44684828 44684828 C T rs755107516 DMAP1 Nonsynonymous SNV A274V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 204533 chr6 153042882 153042882 C G MYCT1 Nonsynonymous SNV L20V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.407 204534 chr17 74475848 74475848 C T rs143449348 RHBDF2 Nonsynonymous SNV R80H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 23.1 204535 chr6 155750092 155750096 GCACT - NOX3 Q326Pfs*100 0 0 0 1 0 0 0.003 0 0 0 0 0 204536 chr12 105515957 105515957 C G rs776626849 WASHC4 Nonsynonymous SNV P243A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 204537 chr12 68619450 68619450 G A rs11570981 IL26 Synonymous SNV T29T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 6.86 204538 chr11 126137098 126137098 A G SRPRA Synonymous SNV N138N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.776 204539 chr1 53347302 53347302 C T rs748821892 ZYG11A Nonsynonymous SNV R295C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 204540 chr1 54337043 54337043 A G rs142756220 YIPF1 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 26.7 204541 chr12 80889101 80889101 A - PTPRQ N440Tfs*6 0.003 0.003 0 0 3 1 0 0 0 0 0 0 204542 chr6 166578125 166578125 G C rs754178278 TBXT Nonsynonymous SNV P233R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.053 204543 chr9 125424155 125424155 G A rs148392490 OR1L1 Nonsynonymous SNV R54H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.004 204544 chr17 78177658 78177658 A G rs528408567 CARD14 Nonsynonymous SNV T753A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.48 204545 chr11 1775271 1775271 G A CTSD Nonsynonymous SNV R309C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 204546 chr12 93244911 93244911 C G rs757722019 EEA1 Nonsynonymous SNV L258F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 204547 chr17 79095236 79095236 C T rs375513190 AATK Nonsynonymous SNV E731K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.846 204548 chr12 133363362 133363362 G C rs745652313 GOLGA3 Nonsynonymous SNV F941L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.856 204549 chr12 120166407 120166407 T C rs145731510 CIT Nonsynonymous SNV N1122S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.07 204550 chr11 218858 218858 C - SIRT3 D161Tfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 204551 chr12 122248677 122248677 A G SETD1B Nonsynonymous SNV Q609R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.265 204552 chr13 110859047 110859047 C T rs368900861 COL4A1 Nonsynonymous SNV G275R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 204553 chr13 111156592 111156592 G T rs201973817 COL4A2 Nonsynonymous SNV Q1461H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.65 204554 chr11 3028156 3028156 C T rs748193432 CARS1 Nonsynonymous SNV R618Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 204555 chr12 133393295 133393295 C T rs144957424 GOLGA3 Synonymous SNV P79P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.73 204556 chr12 133802982 133802982 G A rs571908356 ANHX Nonsynonymous SNV T254I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.103 204557 chr1 94930350 94930350 G A rs755005574 ABCD3 Nonsynonymous SNV R56Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27 204558 chr12 45610171 45610171 A T ANO6 Nonsynonymous SNV I23F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.23 204559 chr18 29787372 29787372 C T rs773064120 MEP1B Synonymous SNV I235I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 204560 chr1 100206379 100206379 C T rs142060390 FRRS1 Synonymous SNV T182T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.31 204561 chr18 33694329 33694329 T C rs201536322 SLC39A6 Nonsynonymous SNV Q250R 0 0 0.007 0 0 0 0 2 0 0 0 0 15.84 204562 chr13 31480841 31480841 G C rs1019425876 MEDAG Synonymous SNV P63P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.391 204563 chr18 42532652 42532652 A G rs765137543 SETBP1 Nonsynonymous SNV H1116R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 204564 chr13 25034259 25034259 T - PARP4 S717Vfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 204565 chr12 26275166 26275166 C T rs76117681 BHLHE41 Nonsynonymous SNV A428T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.44 204566 chr18 43417794 43417794 C G SIGLEC15 Synonymous SNV R143R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 204567 chr18 44149407 44149407 T C LOXHD1 Nonsynonymous SNV N748D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.716 204568 chr1 110031014 110031014 G A rs377654845 ATXN7L2 Nonsynonymous SNV C269Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 204569 chr18 47421475 47421475 G A rs556141097 MYO5B Nonsynonymous SNV R961W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 204570 chr1 110464537 110464537 A C rs759668151 CSF1 Nonsynonymous SNV E155D 0 0.005 0 1 0 2 0.003 0 0 1 0 0 21.2 204571 chr1 110884087 110884087 A G rs375287873 RBM15 Nonsynonymous SNV D687G 0 0.005 0 0 0 2 0 0 0 1 0 0 23.8 204572 chr11 48328547 48328547 G A rs769078357 OR4S1 Nonsynonymous SNV R258H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 204573 chr9 19378412 19378412 T A rs141791099 RPS6 Nonsynonymous SNV E150D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 204574 chr13 46161330 46161330 A G rs1018408423 ERICH6B Synonymous SNV L242L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.031 204575 chr1 115110818 115110818 T C BCAS2 Nonsynonymous SNV N204S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 204576 chr9 2029135 2029135 G T SMARCA2 Nonsynonymous SNV G38V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 204577 chr13 47345587 47345587 G A rs112839562 ESD Synonymous SNV D271D 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 Benign 8.698 204578 chr1 118461225 118461225 G A rs151335160 GDAP2 Nonsynonymous SNV L104F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 204579 chr13 41515446 41515446 A G ELF1 Synonymous SNV F265F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.882 204580 chr13 41808031 41808031 G C MTRF1 Nonsynonymous SNV P328R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 204581 chr1 120436643 120436643 C T ADAM30 Nonsynonymous SNV A773T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.887 204582 chr12 4766984 4766984 T C rs1054665754 NDUFA9 Nonsynonymous SNV I130T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 204583 chr18 67802424 67802424 T C rs371633774 RTTN Nonsynonymous SNV M49V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.921 204584 chr18 72021059 72021059 T C rs561534459 C18orf63 Synonymous SNV S519S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.041 204585 chr13 48528606 48528606 C T SUCLA2 Nonsynonymous SNV E297K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 204586 chr13 49281222 49281222 C T rs147650408 CYSLTR2 Nonsynonymous SNV T90M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 204587 chr11 118427750 118427750 T G rs548333275 IFT46 Nonsynonymous SNV K19T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 204588 chr1 151508742 151508742 G A rs372439240 CGN Nonsynonymous SNV R1076Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 204589 chr18 76753296 76753296 C G SALL3 Synonymous SNV L435L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.193 204590 chr13 52548911 52548911 C T rs200606656 ATP7B Nonsynonymous SNV V149M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 204591 chr11 120180222 120180222 G A POU2F3 Nonsynonymous SNV R334Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 204592 chr11 122726430 122726430 A G rs35136295 CRTAM Nonsynonymous SNV D173G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 27.5 204593 chr18 9950393 9950393 A G VAPA Nonsynonymous SNV N140S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 204594 chr13 77817250 77817250 C T rs781642815 MYCBP2 Nonsynonymous SNV R858Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 204595 chr19 1036201 1036201 G A rs369249569 CNN2 Nonsynonymous SNV D144N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.97 204596 chr12 52789967 52789967 G A rs143936905 KRT82 Nonsynonymous SNV A373V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.137 204597 chr19 10398465 10398465 C T rs142109230 ICAM4 Stop gain R191X 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 33 204598 chr19 10477233 10477233 G A rs748475805 TYK2 Synonymous SNV D163D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.3 204599 chr6 80717723 80717723 C G TTK Nonsynonymous SNV Q113E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 204600 chr6 87966773 87966773 T A rs41273273 ZNF292 Synonymous SNV A1142A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.589 204601 chr14 103556085 103556085 G A rs118054948 LBHD2 Nonsynonymous SNV G93D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.301 204602 chr14 103573866 103573866 C T rs147895517 EXOC3L4 Nonsynonymous SNV R563W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26 204603 chr14 105618349 105618349 G A rs767469145 JAG2 Nonsynonymous SNV T322M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 204604 chr19 11598576 11598576 G A rs142199640 ZNF653 Synonymous SNV S234S 0.001 0 0.014 3 1 0 0.008 4 0 0 0 0 12.9 204605 chr19 12805647 12805647 T C rs780615110 FBXW9 Nonsynonymous SNV H172R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 204606 chr19 13906538 13906538 G A rs775001644 ZSWIM4 Nonsynonymous SNV A26T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 204607 chr19 14083840 14083840 G A RFX1 Synonymous SNV T343T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.11 204608 chr19 15272002 15272002 G T NOTCH3 Nonsynonymous SNV A2146E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.693 204609 chr19 15484129 15484129 C T rs117367631 AKAP8 Nonsynonymous SNV E132K 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 26.4 204610 chr11 128807550 128807550 C G rs546435313 TP53AIP1 Nonsynonymous SNV R55P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.175 204611 chr11 128839135 128839135 G A rs779625272 ARHGAP32 Synonymous SNV I1628I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 204612 chr1 167817634 167817634 C - rs757428388 ADCY10 R648Nfs*2 0 0.003 0 2 0 1 0.005 0 0 0 0 0 204613 chr12 58022914 58022914 T C rs149670131 B4GALNT1 Nonsynonymous SNV E188G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 17.71 204614 chr11 1651232 1651232 C A rs117674201 KRTAP5-5 Synonymous SNV G54G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 204615 chr1 171083208 171083208 G T rs762874376 FMO3 Nonsynonymous SNV V234L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.195 204616 chr12 85445965 85445965 A G LRRIQ1 Nonsynonymous SNV D230G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 204617 chr11 56510415 56510415 C A OR9G4 Synonymous SNV L291L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 204618 chrX 153662729 153662729 C T ATP6AP1 Nonsynonymous SNV P287L 0.002 0.003 0 0 2 1 0 0 1 0 0 0 13.87 204619 chr1 175328843 175328843 A G rs142726733 TNR Nonsynonymous SNV I627T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.087 204620 chr14 23451345 23451345 G A rs45543740 AJUBA Nonsynonymous SNV P44L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 23.5 204621 chr19 18234074 18234074 G A rs190964602 MAST3 Synonymous SNV P120P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 204622 chr19 18376679 18376679 G A rs140090351 IQCN Synonymous SNV T557T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 204623 chr14 39649827 39649827 C T rs140529795 PNN Nonsynonymous SNV A305V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.97 204624 chr19 18854949 18854949 C T CRTC1 Nonsynonymous SNV A92V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 204625 chr19 19752628 19752628 G A rs376828096 GMIP Nonsynonymous SNV P77S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 204626 chr14 24808474 24808474 A G rs141948629 RIPK3 Nonsynonymous SNV L73P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 204627 chr19 2115238 2115238 C T rs775564429 AP3D1 Nonsynonymous SNV V777I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 204628 chr1 183854023 183854023 A G rs146024754 RGL1 Nonsynonymous SNV K299R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.41 204629 chr7 114282635 114282635 A G rs563897082 FOXP2 Nonsynonymous SNV I316V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.31 204630 chr1 185897711 185897711 G A rs755638541 HMCN1 Synonymous SNV K488K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 204631 chr19 22784697 22784697 G C rs13343382 GOLGA2P9 0 0 0.007 0 0 0 0 2 0 0 0 0 0.055 204632 chr1 196876520 196876520 C A rs776471590 CFHR4 Nonsynonymous SNV L231M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.509 204633 chr1 196876540 196876540 G A rs767898740 CFHR4 Synonymous SNV E237E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.739 204634 chr1 196928159 196928159 A G CFHR2 Synonymous SNV R130R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.808 204635 chr19 31770174 31770174 C A rs368807538 TSHZ3 Synonymous SNV T175T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 204636 chr1 201180725 201180725 G C IGFN1 Nonsynonymous SNV G2235A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.57 204637 chr11 612735 612735 A G rs763008327 IRF7 Synonymous SNV D445D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 204638 chr11 61313688 61313688 C T rs370202849 SYT7 Synonymous SNV A85A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.42 204639 chr10 103990440 103990445 GCGGCG - PITX3 A249_A250del 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 204640 chr10 105200233 105200233 G C rs754261100 PDCD11 Nonsynonymous SNV K1445N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.33 204641 chr1 203743786 203743786 A C rs769960645 LAX1 Nonsynonymous SNV T376P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.22 204642 chr11 6238956 6238957 AG - FAM160A2 A620Gfs*24 0.005 0.003 0.007 1 6 1 0.003 2 0 0 0 0 204643 chr11 6238961 6238961 G - FAM160A2 R619Gfs*43 0.003 0 0 0 3 0 0 0 0 0 0 0 204644 chr11 6238967 6238967 T C rs867759355 FAM160A2 Nonsynonymous SNV R617G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.124 204645 chr11 6238970 6238970 T C rs868028265 FAM160A2 Nonsynonymous SNV R616G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.342 204646 chr11 62414906 62414906 C G rs144646954 INTS5 Synonymous SNV L882L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.819 204647 chr1 204913461 204913461 G A rs551045225 NFASC Synonymous SNV P6P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 204648 chr14 71434922 71434922 C T rs528717820 PCNX1 Nonsynonymous SNV S159F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 204649 chr1 205041695 205041695 G A rs1050153255 CNTN2 Nonsynonymous SNV R939Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.23 204650 chr13 110866345 110866345 C T COL4A1 Synonymous SNV P54P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 204651 chr11 63325968 63325968 G A rs372878699 PLAAT2 Nonsynonymous SNV R95W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 204652 chr10 112645061 112645061 T C PDCD4 Synonymous SNV F150F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.976 204653 chr11 63488069 63488069 G A rs779527244 RTN3 Nonsynonymous SNV G587S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 204654 chr13 114523876 114523876 C T rs760861912 GAS6 Synonymous SNV T666T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.66 204655 chr13 19751418 19751418 C A rs778885330 TUBA3C Synonymous SNV V235V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.552 204656 chr14 64676751 64676751 C T rs36215895 SYNE2 Nonsynonymous SNV T6211M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 204657 chr14 65035084 65035084 A G PPP1R36 Nonsynonymous SNV N151S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.706 204658 chr14 65242015 65242015 T C rs140648376 SPTB Nonsynonymous SNV E1557G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 18.08 204659 chr14 67854970 67854970 G C PLEK2 Nonsynonymous SNV S302C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 204660 chr11 64896130 64896130 A G rs139920740 SYVN1 Nonsynonymous SNV V550A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 204661 chr19 39292728 39292728 G A rs368398848 LGALS4 Synonymous SNV N243N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.916 204662 chr19 39364562 39364562 C T rs61740709 RINL Nonsynonymous SNV E93K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.02 204663 chr1 216221876 216221876 C A rs768233523 USH2A Nonsynonymous SNV A2055S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 204664 chr1 218480862 218480862 G A rs202205037 RRP15 Nonsynonymous SNV R198H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 204665 chr14 71502824 71502824 G T rs117405927 PCNX1 Nonsynonymous SNV G1162C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 33 204666 chr14 74527409 74527409 T G ALDH6A1 Nonsynonymous SNV Q502P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 204667 chr14 92480561 92480561 G A rs759965071 TRIP11 Nonsynonymous SNV S394F 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 27.3 204668 chr11 65745255 65745255 G T rs754154608 SART1 Nonsynonymous SNV S686I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 204669 chr19 4170150 4170150 A G rs776524808 CREB3L3 Nonsynonymous SNV H243R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 204670 chr19 41822689 41822689 C G rs374504882 CCDC97 Synonymous SNV T84T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 204671 chr14 93712409 93712409 T C rs749943034 BTBD7 Nonsynonymous SNV Q431R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.23 204672 chr10 129231553 129231553 A G rs774808081 DOCK1 Nonsynonymous SNV S1641G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.53 204673 chr1 226349319 226349319 C T rs147538215 ACBD3 Nonsynonymous SNV R214H 0 0.005 0 0 0 2 0 0 0 0 0 0 33 204674 chr14 94845805 94845805 G A rs201788603 SERPINA1 Nonsynonymous SNV S354F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 29.2 204675 chr10 134218580 134218580 C T rs112639073 PWWP2B Synonymous SNV P192P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.533 204676 chr7 157903526 157903526 G A rs147057713 PTPRN2 Synonymous SNV D508D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 3.903 204677 chr14 103447314 103447314 T C CDC42BPB Synonymous SNV E312E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.601 204678 chr10 135122459 135122459 C T rs987976908 ZNF511 Synonymous SNV P4P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.28 204679 chr1 235971860 235971860 C T rs746829669 LYST Nonsynonymous SNV S753N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 0.01 204680 chr7 20824994 20824994 C A rs766508195 SP8 Nonsynonymous SNV A148S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.345 204681 chr11 73074823 73074823 C T rs750739981 ARHGEF17 Nonsynonymous SNV R1760C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 204682 chr1 236730081 236730081 C T rs147279695 HEATR1 Synonymous SNV P1391P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 13.77 204683 chr1 237058743 237058743 G A rs61736326 MTR Nonsynonymous SNV R1113H 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 23.9 204684 chr1 237993877 237993877 G C rs201371633 RYR2 Synonymous SNV V4901V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.6 204685 chr19 46144887 46144887 C T EML2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.726 204686 chr14 105995528 105995528 G A rs371735414 TMEM121 Synonymous SNV V119V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.586 204687 chr14 100070128 100070128 T G rs907436367 CCDC85C Nonsynonymous SNV N57H 0.003 0 0 0 4 0 0 0 0 0 0 0 19.03 204688 chr10 25877957 25877957 G T rs764493979 GPR158 Nonsynonymous SNV W592L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 204689 chr19 46345633 46345633 A G rs775357590 SYMPK Nonsynonymous SNV I321T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 204690 chr11 76833671 76833671 G C CAPN5 Synonymous SNV S551S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 204691 chr19 47290880 47290880 C A SLC1A5 Nonsynonymous SNV G115C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 204692 chr14 20841556 20841556 G C rs570098132 TEP1 Nonsynonymous SNV C2121W 0 0.003 0 0 0 1 0 0 0 0 0 0 8.564 204693 chr15 33878272 33878272 C T rs762956231 RYR3 Synonymous SNV I581I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 204694 chr15 34030749 34030749 G A rs371646758 RYR3 Synonymous SNV T2538T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.47 204695 chr19 48800423 48800423 C G rs139193954 CCDC114 Nonsynonymous SNV S608T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 204696 chr19 48967554 48967554 G T rs949961054 KCNJ14 Nonsynonymous SNV E277D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 204697 chr15 34653727 34653727 G A rs192894758 LPCAT4 Synonymous SNV S339S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.61 204698 chr11 8640432 8640432 C A TRIM66 Synonymous SNV R1152R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 204699 chr15 41148173 41148173 G A rs546841557 SPINT1 Nonsynonymous SNV A401T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 204700 chr19 50333954 50333954 C T rs546822136 MED25 Nonsynonymous SNV S304L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 204701 chr14 23885360 23885360 G A rs142034311 MYH7 Synonymous SNV D1602D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 1.653 204702 chr11 94039684 94039684 C T rs965468344 IZUMO1R Synonymous SNV I48I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 204703 chr7 45067370 45067370 C T CCM2 Nonsynonymous SNV H23Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.548 204704 chr11 94349670 94349670 G A rs570521285 PIWIL4 Nonsynonymous SNV R652H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 204705 chr19 51294991 51294991 G C rs767907487 ACP4 Nonsynonymous SNV A128P 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 22.8 204706 chr15 43307939 43307939 A G rs200843098 UBR1 Synonymous SNV Y1052Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.205 204707 chr15 43498544 43498544 C T rs149742998 EPB42 Synonymous SNV T564T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.33 204708 chr10 5791578 5791578 G T rs45596231 TASOR2 Nonsynonymous SNV S1984I 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 3.06 204709 chr19 52004784 52004784 G A rs762598361 SIGLEC12 Synonymous SNV D68D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.114 204710 chr10 61833740 61833740 A G ANK3 Nonsynonymous SNV V2300A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.62 204711 chr14 50300201 50300201 T C rs144956147 NEMF Synonymous SNV V225V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.694 204712 chr19 53086096 53086096 A G rs748827722 ZNF701 Nonsynonymous SNV R262G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 204713 chr10 71119742 71119742 C T rs761659786 HK1 Nonsynonymous SNV H106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 204714 chr15 72146838 72146838 G C MYO9A Nonsynonymous SNV P2076A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 204715 chr19 53855283 53855283 C T rs746938482 ZNF845 Nonsynonymous SNV S452L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 204716 chr12 112460433 112460433 G A ERP29 Nonsynonymous SNV G255R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 18.83 204717 chr19 54577305 54577305 C T rs58216808 TARM1 Synonymous SNV A175A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 204718 chr12 114793661 114793661 G C rs188839350 TBX5 Synonymous SNV T361T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.354 204719 chr10 7762920 7762920 A G rs766669232 ITIH2 Synonymous SNV Q244Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.435 204720 chr15 65622165 65622165 G A rs140217366 IGDCC3 Synonymous SNV A632A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.451 204721 chr15 67813783 67813783 C T rs1055278683 C15orf61 Nonsynonymous SNV S66L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 204722 chr19 55603909 55603909 G A rs74838764 PPP1R12C Synonymous SNV T650T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 4.642 204723 chr19 55604575 55604575 C T rs75554203 PPP1R12C Synonymous SNV E569E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 15.02 204724 chr19 55606897 55606897 A T rs34207463 PPP1R12C Synonymous SNV P433P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.003 204725 chr10 88703000 88703000 G A MMRN2 Nonsynonymous SNV A514V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.94 204726 chr2 47641430 47641430 C T rs34136999 MSH2 Nonsynonymous SNV A272V 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 35 204727 chr2 48718192 48718192 C T rs769758453 PPP1R21 Synonymous SNV F494F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 204728 chr12 122617952 122617952 G A rs181583869 MLXIP Nonsynonymous SNV A384T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.938 204729 chr2 50280604 50280604 T C rs79970751 NRXN1 Synonymous SNV A246A 0.002 0.008 0.007 2 2 3 0.005 2 0 0 0 0 Benign/Likely benign 0.513 204730 chr2 58386805 58386805 T C rs76348639 VRK2 Nonsynonymous SNV F384L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.23 204731 chr15 78346413 78346413 C T rs752836918 TBC1D2B Synonymous SNV G159G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 204732 chr2 64085066 64085066 A T rs148783211 UGP2 Nonsynonymous SNV D73V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 204733 chr7 99764144 99764145 AT - GAL3ST4 M137Efs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 204734 chr14 75387991 75387991 C T rs368110305 RPS6KL1 Nonsynonymous SNV R85H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 204735 chr14 70245116 70245116 G C rs189313778 SLC10A1 Nonsynonymous SNV Q293E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 204736 chr10 99130800 99130800 C T RRP12 Synonymous SNV V694V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.06 204737 chr14 72932515 72932515 G C rs111681213 RGS6 Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.545 204738 chr10 99969246 99969246 A G rs765663843 R3HCC1L Nonsynonymous SNV T459A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.12 204739 chr2 73613032 73613046 GGAGGAGGAGGAGGA - rs878855000 ALMS1 E24_E28del 0 0.003 0 0 0 1 0 0 0 0 0 0 204740 chr2 73679087 73679087 G C rs78039319 ALMS1 Nonsynonymous SNV K1810N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.82 204741 chr19 58806772 58806772 C T rs150108861 ZNF8 Nonsynonymous SNV P533L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 204742 chr2 73680207 73680207 C T rs77555300 ALMS1 Nonsynonymous SNV P2184S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.299 204743 chr2 73800058 73800058 G A rs11896293 ALMS1 Nonsynonymous SNV S3684N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.357 204744 chr2 74043532 74043532 C A rs115725666 C2orf78 Nonsynonymous SNV Q728K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 204745 chr19 633434 633434 C T rs533598307 POLRMT Nonsynonymous SNV G27S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.013 204746 chr2 86676934 86676934 G A KDM3A Nonsynonymous SNV C64Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 204747 chr12 2694598 2694598 C A rs398123519 CACNA1C Nonsynonymous SNV S799Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.05 204748 chr2 98351118 98351118 T C rs142702703 ZAP70 Nonsynonymous SNV I35T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.19 204749 chr15 91486251 91486251 G A rs758148656 UNC45A Synonymous SNV A177A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 204750 chr19 873482 873482 G A rs767796558 MED16 Synonymous SNV F624F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.29 204751 chr11 102584535 102584535 C A rs769121192 MMP8 Nonsynonymous SNV G415V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.53 204752 chr11 103046984 103046984 G A rs150887098 DYNC2H1 Nonsynonymous SNV V1899I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.03 204753 chr12 32735056 32735056 A T rs139357821 FGD4 Synonymous SNV A197A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.136 204754 chr12 368992 368992 G A rs764145255 SLC6A13 Nonsynonymous SNV P76L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.14 204755 chr16 23226701 23226701 G A rs139012605 SCNN1G Nonsynonymous SNV G621S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 204756 chr11 107325242 107325242 T - rs752827846 CWF19L2 E92Kfs*45 0 0.003 0 1 0 1 0.003 0 0 0 0 0 204757 chr15 28096597 28096597 G A OCA2 Nonsynonymous SNV H733Y 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 204758 chr2 113498472 113498472 G A CKAP2L Synonymous SNV V480V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.721 204759 chr2 113537104 113537104 C T rs138168355 IL1A Synonymous SNV T153T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.92 204760 chr8 144650812 144650812 C T MROH6 Synonymous SNV L518L 0 0 0 2 0 0 0.005 0 0 0 0 1 8.389 204761 chr19 9270973 9270973 G A rs138310051 ZNF317 Nonsynonymous SNV G186R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 204762 chr19 9325369 9325369 C T rs112089905 OR7D4 Nonsynonymous SNV V49I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 204763 chr16 1524907 1524907 C T CLCN7 Synonymous SNV L23L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.635 204764 chr12 49227126 49227126 C T rs149236003 DDX23 Synonymous SNV T579T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 204765 chr8 144896172 144896172 G A rs779932560 SCRIB Synonymous SNV N92N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.649 204766 chr16 15690657 15690657 C T MARF1 Nonsynonymous SNV E1708K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 204767 chr8 144943169 144943169 C T EPPK1 Nonsynonymous SNV R1418K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 204768 chr11 118827068 118827068 C T rs774784237 UPK2 Nonsynonymous SNV P3L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 204769 chr16 3640805 3640805 T C rs748942705 SLX4 Nonsynonymous SNV E945G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.681 204770 chr1 110740093 110740093 C A rs368410351 SLC6A17 Nonsynonymous SNV R563S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 204771 chr11 93488447 93488447 C T rs770490596 C11orf54 Synonymous SNV N115N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 204772 chr1 112020276 112020276 G A rs371937009 C1orf162 Nonsynonymous SNV R40Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 10.96 204773 chr2 160206839 160206839 T C BAZ2B Nonsynonymous SNV K1379E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 204774 chr1 115537403 115537403 A C rs556075906 SYCP1 Nonsynonymous SNV K905Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 204775 chr16 53493422 53493422 C A RBL2 Nonsynonymous SNV S413R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.69 204776 chr12 53452993 53452993 C T rs762852118 TNS2 Nonsynonymous SNV P533L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 204777 chr2 167137081 167137081 C T rs201709980 SCN9A Nonsynonymous SNV C710Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 204778 chr16 30783204 30783204 C T rs757883331 RNF40 Synonymous SNV H779H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 204779 chr15 58467201 58467201 C T rs145164884 AQP9 Nonsynonymous SNV P154L 0 0.003 0 0 0 1 0 0 0 0 0 0 29 204780 chr1 119584950 119584950 T C rs150022801 WARS2 Nonsynonymous SNV H151R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.099 204781 chr1 12169641 12169641 C T rs758099802 TNFRSF8 Nonsynonymous SNV T36M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 204782 chr2 170502613 170502613 T A rs756758130 CCDC173 Nonsynonymous SNV E466V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 204783 chr2 171323070 171323070 C T rs572179158 MYO3B Nonsynonymous SNV R955C 0 0.005 0 0 0 2 0 0 0 0 0 0 35 204784 chr1 14105122 14105124 GAA - rs754175809 PRDM2 E81del 0 0 0.003 0 0 0 0 1 0 0 0 0 204785 chr2 171715387 171715387 G A rs769402 GAD1 Nonsynonymous SNV R532Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 23.1 204786 chr11 126176484 126176484 A G rs145173937 DCPS Nonsynonymous SNV D81G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.897 204787 chr15 64448247 64448247 T C rs756245364 PPIB Nonsynonymous SNV K209R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 204788 chr15 57808983 57808983 C T rs754443397 CGNL1 Synonymous SNV V803V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 204789 chr12 6030295 6030295 C T rs200918253 ANO2 Nonsynonymous SNV D149N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 204790 chr1 151502418 151502418 C G rs761553529 CGN Nonsynonymous SNV L714V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 204791 chr2 180810401 180810401 T C rs563511869 CWC22 Nonsynonymous SNV K728E 0 0.005 0 0 0 2 0 0 0 1 0 0 14.44 204792 chr11 17177174 17177174 T C rs61755369 PIK3C2A Synonymous SNV K356K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.21 204793 chr2 182403834 182403834 G A rs146913105 CERKL Nonsynonymous SNV S395L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 25.9 204794 chr15 63102175 63102175 C T rs754915891 TLN2 Nonsynonymous SNV R2239C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 204795 chr15 63893839 63893839 G C rs369319834 FBXL22 Nonsynonymous SNV R233P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.463 204796 chr2 182780776 182780776 T C rs760403633 ITPRID2 Synonymous SNV S650S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 204797 chr15 71952964 71952964 C T rs562003457 THSD4 Synonymous SNV G56G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 204798 chr1 152883977 152883977 T C rs201867512 IVL Synonymous SNV P568P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.011 204799 chr11 17615604 17615604 C T rs7936324 OTOG Nonsynonymous SNV A1112V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 23.1 204800 chr16 70698297 70698297 G A rs769916218 MTSS2 Synonymous SNV P509P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.759 204801 chr11 17615655 17615655 C T rs7936354 OTOG Nonsynonymous SNV P1129L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 33 204802 chr11 17662573 17662573 G A rs189910531 OTOG Nonsynonymous SNV D2721N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.8 204803 chr15 66031161 66031161 T C DENND4A Synonymous SNV E228E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.655 204804 chr15 75761303 75761303 A G PTPN9 Nonsynonymous SNV I530T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 204805 chr2 190927143 190927143 G A rs35321585 MSTN Synonymous SNV I60I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.389 204806 chr16 76461488 76461488 G A CNTNAP4 Nonsynonymous SNV C48Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 204807 chr1 155262968 155262968 C T rs118204085 PKLR Nonsynonymous SNV R479H 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 29.8 204808 chr15 70961300 70961302 CTA - rs761259954 UACA V561del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 204809 chr16 55705760 55705760 T G rs552629380 SLC6A2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 3.713 204810 chr11 19247021 19247021 G T rs766139629 E2F8 Nonsynonymous SNV P723H 0 0 0 4 0 0 0.01 0 0 0 0 0 25.3 204811 chr12 72148920 72148920 - CGG rs777390216 RAB21 G10_A11insG 0.001 0 0 0 1 0 0 0 0 0 0 0 204812 chr2 201760067 201760067 G A rs201053124 NIF3L1 Nonsynonymous SNV R227Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 204813 chr16 57416821 57416821 G A rs374256527 CX3CL1 Synonymous SNV V272V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 204814 chr2 202575745 202575745 T C rs773734521 ALS2 Nonsynonymous SNV K1364R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.68 204815 chr16 57503929 57503929 A G POLR2C Nonsynonymous SNV K166E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 204816 chr15 84373248 84373248 C G rs773633811 ADAMTSL3 Synonymous SNV R59R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.26 204817 chr15 75931979 75931979 G C rs370385015 IMP3 Synonymous SNV R177R 0.004 0.005 0 0 5 2 0 0 0 0 0 0 9.257 204818 chr16 57794811 57794811 C T KIFC3 Nonsynonymous SNV E585K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 204819 chr1 157739752 157739752 C T rs138011295 FCRL2 Nonsynonymous SNV V167M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 204820 chr11 2905079 2905079 C T CDKN1C Synonymous SNV S151S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 204821 chr1 159283737 159283737 G A rs201938682 OR10J3 Nonsynonymous SNV A238V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.4 204822 chr11 3062131 3062131 G A rs61737270 CARS1 Synonymous SNV H67H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.16 204823 chr12 977437 977437 G A WNK1 Nonsynonymous SNV A849T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 204824 chr9 100075521 100075521 C A rs7864805 CCDC180 Nonsynonymous SNV P162H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 204825 chr9 100079355 100079355 C T rs970857 CCDC180 Synonymous SNV N312N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.4 204826 chr2 220044952 220044952 G T RETREG2 Nonsynonymous SNV R180S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 204827 chr9 101558581 101558581 C A rs745881769 ANKS6 Nonsynonymous SNV V65F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.031 204828 chr1 169510626 169510626 G A rs368295218 F5 Synonymous SNV D1234D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.709 204829 chr11 45928432 45928432 C T rs376288720 C11orf94 Nonsynonymous SNV G55S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 204830 chr1 169847940 169847940 G A rs151037129 SCYL3 Synonymous SNV H62H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.382 204831 chr9 108382226 108382226 C G rs149085844 FKTN Nonsynonymous SNV S352R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.9 204832 chr1 173176237 173176237 C T rs199835957 TNFSF4 Nonsynonymous SNV V27M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 26.6 204833 chr1 174418312 174418312 C T rs148373977 GPR52 Nonsynonymous SNV R355W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 204834 chr17 10541209 10541209 C T MYH3 Nonsynonymous SNV S1258N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 204835 chr13 114312406 114312406 C T rs112227896 ATP4B Synonymous SNV Q18Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.921 204836 chr13 114502380 114502380 C T rs141858027 TMEM255B Synonymous SNV V137V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.252 204837 chr13 114514863 114514863 C G rs140283803 TMEM255B Nonsynonymous SNV P275R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 204838 chr11 48328261 48328261 C G rs190716643 OR4S1 Nonsynonymous SNV Q163E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.3 204839 chr12 33021915 33021915 A G rs142742483 PKP2 Synonymous SNV A372A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.075 204840 chr1 179956380 179956380 A G rs368549091 CEP350 Nonsynonymous SNV I27V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 204841 chr1 180910299 180910299 C G KIAA1614 Nonsynonymous SNV L1013V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 204842 chr12 42499787 42499787 G A rs78536352 GXYLT1 Synonymous SNV L202L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.543 204843 chr12 42499814 42499816 GTA - GXYLT1 Stop gain L192_K409del 0.002 0 0 0 2 0 0 0 0 0 0 0 204844 chr17 18051522 18051522 A G rs375163839 MYO15A Nonsynonymous SNV N2230S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.07 204845 chr17 18181523 18181523 G A rs778544832 TOP3A Nonsynonymous SNV R670C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 204846 chr1 186022190 186022190 C G rs368174679 HMCN1 Synonymous SNV L2228L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 204847 chr16 88800074 88800074 C G rs200029740 PIEZO1 Nonsynonymous SNV Q803H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 204848 chr2 240913003 240913003 G T rs767292304 NDUFA10 Nonsynonymous SNV L359I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.464 204849 chr1 19992635 19992635 C G HTR6 Nonsynonymous SNV S130W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 204850 chr13 45149462 45149462 G C TSC22D1 Nonsynonymous SNV T250S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.96 204851 chr16 89294384 89294384 G A ZNF778 Nonsynonymous SNV C535Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 204852 chr2 242009594 242009594 C T rs375438550 SNED1 Synonymous SNV P1189P 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 15.31 204853 chr2 242021777 242021777 C T rs766375001 SNED1 Synonymous SNV H1373H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 204854 chr16 30197969 30197969 T C CORO1A Synonymous SNV P83P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.063 204855 chr16 2338292 2338292 C T rs780828723 ABCA3 Synonymous SNV L913L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.51 204856 chr16 23497420 23497420 C T rs200136612 GGA2 Synonymous SNV V238V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 16 204857 chr13 53049078 53049078 G A rs41292822 CKAP2 Synonymous SNV E618E 0.007 0 0 0 8 0 0 0 0 0 0 0 10.67 204858 chr16 9934880 9934880 A C rs372058698 GRIN2A Synonymous SNV T470T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.076 204859 chr3 9512554 9512554 G A rs769459080 SETD5 Nonsynonymous SNV G1046S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 204860 chr3 9976161 9976161 G A CRELD1 Nonsynonymous SNV M13I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 204861 chr16 30616031 30616031 G A rs777221834 ZNF689 Nonsynonymous SNV R353C 0.002 0 0 4 2 0 0.01 0 0 0 0 0 23.2 204862 chr1 206776321 206776321 A G EIF2D Synonymous SNV D256D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.523 204863 chr3 14105855 14105881 CCAGCAGCAGCAGCCCCAGCAGCAGCC - rs773547647 TPRXL 0 0.003 0 0 0 1 0 0 0 0 0 0 204864 chr1 210187037 210187037 C T rs188995220 SYT14 Nonsynonymous SNV L41F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 204865 chr1 21030974 21030974 G C rs368449465 KIF17 Nonsynonymous SNV I363M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 204866 chr16 4827992 4827992 G A rs762397615 SEPTIN12 Nonsynonymous SNV L249F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 204867 chr1 214557049 214557054 CCTCCT - rs539310988 PTPN14 E715_E716del 0 0 0.003 0 0 0 0 1 0 0 0 0 204868 chr12 57110868 57110868 T - NACA K1482Nfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 204869 chr3 28283368 28283368 C T rs150356600 CMC1 Nonsynonymous SNV R2W 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.15 204870 chr9 136516779 136516779 C T rs144219953 DBH Synonymous SNV H405H 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.31 204871 chr9 136555539 136555539 C T rs142376496 SARDH Nonsynonymous SNV E678K 0 0 0 2 0 0 0.005 0 0 0 0 0 29 204872 chr17 38209761 38209761 A G MED24 Nonsynonymous SNV F31L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 204873 chr3 37033810 37033810 A G EPM2AIP1 Synonymous SNV I253I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.148 204874 chr14 105642978 105642978 G A rs150187377 NUDT14 Synonymous SNV L107L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.36 204875 chr3 38035838 38035838 C A rs369097941 VILL Synonymous SNV G74G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.76 204876 chr3 38050645 38050645 G A rs377656276 PLCD1 Synonymous SNV N558N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.058 204877 chr16 57732895 57732895 G A rs770932216 DRC7 Nonsynonymous SNV V113M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 204878 chr16 52473386 52473386 C T rs377610207 TOX3 Synonymous SNV Q494Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 4.953 204879 chr1 225391923 225391923 T C rs192601701 DNAH14 Synonymous SNV D1975D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 204880 chr16 66997523 66997523 C T rs754595323 CES3 Synonymous SNV S139S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 204881 chr1 226825410 226825410 T C rs371374522 ITPKB Synonymous SNV L865L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.333 204882 chr14 21462160 21462160 G A rs141889474 METTL17 Nonsynonymous SNV R212H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 204883 chr17 27889943 27889943 - CC ABHD15 Frameshift insertion A348Gfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 204884 chr11 57958181 57958181 C T rs143799148 OR9Q2 Synonymous SNV Y73Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.716 204885 chr9 140123225 140123225 G A rs957944375 RNF224 Nonsynonymous SNV R53Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.24 204886 chr16 71710408 71710408 C G rs148584091 PHLPP2 Nonsynonymous SNV Q471H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 204887 chr16 682671 682671 G A rs566455415 WFIKKN1 Synonymous SNV P87P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.444 204888 chr1 233490704 233490704 G A rs35465006 MAP3K21 Nonsynonymous SNV D420N 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 27.3 204889 chr14 24551834 24551834 - G rs763191889 NRL Frameshift insertion L75Pfs*19 0.001 0 0.003 0 1 0 0 1 0 0 0 0 204890 chr14 24624655 24624655 G A RNF31 Synonymous SNV A628A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.57 204891 chr14 24880346 24880346 C T rs770299659 NYNRIN Nonsynonymous SNV R827W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 204892 chr1 235383748 235383748 T C rs780730810 ARID4B Nonsynonymous SNV I426V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 204893 chr17 43319409 43319409 C T rs542025302 FMNL1 Nonsynonymous SNV P594L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.56 204894 chr1 236902707 236902707 C T rs770855273 ACTN2 Nonsynonymous SNV R328W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 204895 chr3 49700961 49700961 A G rs374380385 BSN Synonymous SNV P3790P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.04 204896 chr17 45822175 45822175 G A rs1044486576 TBX21 Nonsynonymous SNV G351R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.1 204897 chr11 621418 621418 C T rs114260500 CDHR5 Nonsynonymous SNV R182H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.022 204898 chr1 241761247 241761247 T C rs978631201 OPN3 Nonsynonymous SNV Y249C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.71 204899 chr17 3850969 3850969 C T rs560255506 ATP2A3 Nonsynonymous SNV V271M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 204900 chr3 50598408 50598408 C T rs370603003 C3orf18 Synonymous SNV E116E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.762 204901 chr16 86544233 86544235 GGG - rs757668134 FOXF1 G23del 0 0.003 0 0 0 1 0 0 0 0 0 0 204902 chr17 4803341 4803341 G C C17orf107 Synonymous SNV P59P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.069 204903 chr17 39296165 39296165 G A rs190523504 KRTAP4-6 Nonsynonymous SNV S192F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 204904 chr14 52978027 52978027 T C rs145731656 TXNDC16 Synonymous SNV T224T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.714 204905 chr14 53213155 53213155 T C rs139939150 STYX Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.63 204906 chr3 53857978 53857992 CCAGGGCTCCCCGTG - rs557197311 CHDH A15_L19del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 204907 chr14 56100010 56100010 G A KTN1 Nonsynonymous SNV G427S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 204908 chr17 39552772 39552772 - GCA rs565048074 KRT31 L162_R163insL 0.001 0 0 0 1 0 0 0 0 0 0 0 204909 chr17 4881889 4881889 C T rs199993069 CAMTA2 Nonsynonymous SNV E561K 0.001 0 0 0 1 0 0 0 0 0 0 0 30 204910 chr3 58409193 58409193 T C rs760587952 PXK Synonymous SNV L375L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 204911 chr9 88207527 88207527 T C rs765727480 AGTPBP1 Nonsynonymous SNV D891G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.3 204912 chr16 84486925 84486925 - GGTGTC ATP2C2 0.002 0 0 1 2 0 0.003 0 0 0 0 0 204913 chr17 39723838 39723906 TAGCTGCCTCCACTTCCTCCCCTGGACCCACTTCCTCCACCATAGCCACCTCCACTTCCTCCTCCACCA - KRT9 G501_G523del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 204914 chr3 78655966 78655966 T C rs768335666 ROBO1 Nonsynonymous SNV Q1454R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 204915 chr3 93734044 93734044 A C rs145124418 STX19 Nonsynonymous SNV S24A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 204916 chr13 21006396 21006396 G A rs201814612 CRYL1 Nonsynonymous SNV P106S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 204917 chr17 57292294 57292294 C G rs375219524 SMG8 Synonymous SNV P969P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 204918 chr9 99521909 99521909 C T rs10217494 ZNF510 Nonsynonymous SNV M339I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.89 204919 chr9 99521920 99521920 G C rs11999094 ZNF510 Nonsynonymous SNV H336D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 204920 chr9 99522293 99522293 G C rs10217154 ZNF510 Nonsynonymous SNV N211K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 204921 chr9 99525487 99525487 A G rs3780548 ZNF510 Nonsynonymous SNV C27R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.71 204922 chr17 42254545 42254545 G A rs747322316 ASB16 Nonsynonymous SNV E337K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.38 204923 chr17 42290220 42290220 G A rs766881272 UBTF Synonymous SNV H209H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.897 204924 chr1 27697451 27697451 G A rs142828984 FCN3 Nonsynonymous SNV R125C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 204925 chr1 28834052 28834052 T G rs140914793 SNORA73A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.797 204926 chr1 28835363 28835363 C A rs188852909 SNHG3 0 0 0.007 0 0 0 0 2 0 0 0 0 0.023 204927 chrX 114424130 114424130 C T RBMXL3 Synonymous SNV D42D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.678 204928 chr1 32050605 32050605 C T rs778425562 TINAGL1 Synonymous SNV L244L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 204929 chr14 77332338 77332338 A G rs771980956 LRRC74A Nonsynonymous SNV I427V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 204930 chr14 77572165 77572165 A T rs370987526 CIPC Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.338 204931 chr17 10293781 10293781 C T rs372307102 MYH8 Nonsynonymous SNV S1935N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 204932 chr14 81610023 81610023 A G rs747680932 TSHR Nonsynonymous SNV I541V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 204933 chr17 19611776 19611776 C T rs138969135 SLC47A2 Synonymous SNV P192P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 10.3 204934 chr14 81952639 81952639 C G rs778016511 SEL1L Nonsynonymous SNV D598H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 204935 chr17 6899500 6899500 G T rs202195274 ALOX12 Nonsynonymous SNV V22L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 204936 chr14 86089274 86089274 C T rs146568257 FLRT2 Synonymous SNV S472S 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 7.966 204937 chr1 36554651 36554651 C G rs755967272 ADPRHL2 Nonsynonymous SNV T49R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 204938 chrX 139586068 139586068 T G SOX3 Synonymous SNV A386A 0 0 0 3 0 0 0.008 0 0 0 0 1 8.263 204939 chr17 1494634 1494634 G A rs143739047 SLC43A2 Nonsynonymous SNV A150V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.98 204940 chr1 41157777 41157777 G T rs533436354 NFYC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 204941 chr17 72368147 72368147 A G rs765516118 GPR142 Nonsynonymous SNV H178R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 204942 chr13 67800770 67800770 A G PCDH9 Synonymous SNV A601A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 204943 chr14 94935873 94935873 A G SERPINA9 Nonsynonymous SNV L22P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 204944 chr1 43212415 43212415 G T rs771006240 P3H1 Nonsynonymous SNV Q722K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.715 204945 chr17 55917177 55917177 A C rs149198678 MRPS23 Synonymous SNV P180P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.257 204946 chr17 55917178 55917178 G C rs775090743 MRPS23 Nonsynonymous SNV P180R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.375 204947 chr11 77749789 77749789 A T NDUFC2-KCTD14 Nonsynonymous SNV L61H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.664 204948 chr11 77749806 77749806 T A KCTD14, NDUFC2-KCTD14 0 0 0 1 0 0 0.003 0 0 0 0 0 7.625 204949 chr17 7321065 7321065 G A NLGN2 Nonsynonymous SNV A819T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 204950 chr13 77673049 77673049 C T rs968279296 MYCBP2 Nonsynonymous SNV R2747H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.81 204951 chr11 78369402 78369402 C T rs114114492 TENM4 Nonsynonymous SNV G2671R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 22.9 204952 chr17 29632598 29632598 C T EVI2B Synonymous SNV L10L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.92 204953 chr15 101609009 101609009 G A rs3752321 LRRK1 Nonsynonymous SNV E2002K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 204954 chr15 22868957 22868957 G A TUBGCP5 Synonymous SNV L943L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 204955 chr15 31251089 31251089 C T rs201545419 MTMR10 Synonymous SNV L304L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.832 204956 chr15 31329943 31329943 C T rs376766834 TRPM1 Nonsynonymous SNV A865T 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 28.5 204957 chr17 34955422 34955422 G A rs889905225 DHRS11 Synonymous SNV A175A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 204958 chr17 35482627 35482627 A G rs146953366 ACACA Synonymous SNV G1916G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 204959 chrX 65486284 65486284 G T rs35700738 HEPH, HEPH Nonsynonymous SNV V783L 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 0.003 204960 chr15 34080475 34080475 A T RYR3 Nonsynonymous SNV I3216F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 204961 chr15 40573830 40573830 G A rs538165576 ANKRD63 Nonsynonymous SNV P320S 0.003 0 0 0 4 0 0 0 0 0 0 0 17.59 204962 chr17 37949139 37949139 C G rs373110693 IKZF3 Nonsynonymous SNV V37L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.523 204963 chr3 148919981 148919981 G C rs371773141 CP Nonsynonymous SNV S419C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 204964 chr14 20470982 20470982 C T rs911539507 OR4Q2 Synonymous SNV T220T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.28 204965 chr3 150289898 150289898 A G rs758244130 EIF2A Nonsynonymous SNV Y261C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 204966 chr14 20611927 20611927 A G OR4N5 Synonymous SNV E11E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.732 204967 chr1 6634731 6634731 G A rs149469671 TAS1R1 Nonsynonymous SNV R180Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.14 204968 chr3 160150859 160150859 G A rs61762668 SMC4 Synonymous SNV S1192S 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 14.8 204969 chr3 160967251 160967256 AAGAAG - NMD3 K405_K406del 0 0.003 0 0 0 1 0 0 0 0 0 0 204970 chr3 160967258 160967258 G T NMD3 Nonsynonymous SNV S407I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 204971 chr14 21250123 21250123 C A rs143479557 RNASE6 Synonymous SNV R89R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.2 204972 chr17 3649193 3649193 C T rs151295075 ITGAE Synonymous SNV T728T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 204973 chr3 176767818 176767818 T C rs61750378 TBL1XR1 Synonymous SNV P136P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 6.701 204974 chr11 1018196 1018196 A C MUC6 Synonymous SNV P1535P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 204975 chr14 23511670 23511670 C - rs572934212 PSMB11 S80Hfs*38 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 204976 chr17 73956356 73956356 A C ACOX1 Nonsynonymous SNV F86V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.7 204977 chr3 183995172 183995172 C A ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV N103K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 204978 chr15 45444204 45444204 C T rs757613081 DUOX1 Synonymous SNV A1049A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 204979 chr3 186572031 186572031 C A rs201912491 ADIPOQ Synonymous SNV P91P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.43 204980 chr3 186953630 186953630 G A rs368168610 MASP1 Nonsynonymous SNV R677C 0 0.003 0 0 0 1 0 0 0 0 0 0 29 204981 chr15 51772974 51772974 A G DMXL2 Nonsynonymous SNV L1474P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 204982 chr17 7608992 7608992 T G rs138255755 EFNB3 Nonsynonymous SNV S26A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 204983 chr12 113596798 113596798 G A rs140154334 DDX54 Nonsynonymous SNV R845C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 204984 chr1 94054855 94054855 C T rs375478012 BCAR3 Nonsynonymous SNV R112Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 204985 chr14 44974124 44974159 CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC - rs866319674 FSCB A678_E689del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 204986 chr20 18297336 18297336 G A rs374733106 ZNF133 Nonsynonymous SNV G595D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 204987 chr12 123649930 123649930 T C rs770800594 MPHOSPH9 Nonsynonymous SNV M896V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.856 204988 chr20 20055851 20055851 G A rs137869491 CFAP61 Synonymous SNV V130V 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 9.606 204989 chr15 68468098 68468098 A G rs113555272 PIAS1 Synonymous SNV G431G 0.003 0.008 0.003 1 4 3 0.003 1 0 0 0 0 8.241 204990 chr18 44069017 44069017 G A rs574598048 LOXHD1 Synonymous SNV L228L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.09 204991 chr18 46385781 46385781 G A rs778674002 CTIF Nonsynonymous SNV A550T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 204992 chr20 278557 278557 C G ZCCHC3 Nonsynonymous SNV D110E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 204993 chr20 2797212 2797212 G T rs770098588 TMEM239 Nonsynonymous SNV Q4H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 204994 chr20 2844872 2844872 A C VPS16 Synonymous SNV L409L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 204995 chr20 30193440 30193440 C T rs142440693 ID1 Nonsynonymous SNV P84S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 204996 chr18 51715313 51715313 G A rs199780930 MBD2 Synonymous SNV T257T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.797 204997 chr17 56690823 56690823 G A rs372649760 TEX14 Nonsynonymous SNV R328C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 204998 chr12 133306386 133306386 T C rs771764666 ANKLE2 Nonsynonymous SNV R788G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.387 204999 chr14 65494228 65494228 C T rs199719600 CHURC1-FNTB, FNTB Synonymous SNV P144P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 205000 chr20 34843624 34843624 C T rs201095536 AAR2 Nonsynonymous SNV A371V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 205001 chr18 10800452 10800452 C G rs202104395 PIEZO2 Nonsynonymous SNV G421R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 205002 chr17 48245380 48245380 G C SGCA Nonsynonymous SNV G129R 0.002 0 0 0 2 0 0 0 0 0 0 0 25 205003 chr4 8584270 8584270 C T rs368181816 GPR78 Synonymous SNV R227R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.09 205004 chr12 1943704 1943704 G A LRTM2 Synonymous SNV T310T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.749 205005 chr17 48628140 48628140 C G SPATA20 Synonymous SNV A399A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.369 205006 chr20 42973972 42973972 A G rs144380945 R3HDML Nonsynonymous SNV N195D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 14.18 205007 chr20 43379327 43379327 G A KCNK15 Nonsynonymous SNV A281T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 205008 chr12 2224415 2224415 C T rs773869181 CACNA1C Synonymous SNV P25P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 14.42 205009 chr15 88670420 88670420 G A NTRK3 Synonymous SNV T422T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 205010 chr14 76905952 76905952 G A ESRRB Nonsynonymous SNV D86N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 205011 chr18 6859822 6859822 C G rs930129163 ARHGAP28 Nonsynonymous SNV L59V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 205012 chr20 45170279 45170279 C T rs748302251 OCSTAMP Synonymous SNV L445L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 205013 chr4 36295229 36295229 A C DTHD1 Nonsynonymous SNV T144P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.565 205014 chr20 47897106 47897106 T C rs1133114 ZFAS1 0 0 0.014 0 0 0 0 4 0 0 0 0 0.105 205015 chr15 90744953 90744953 T C rs199809872 SEMA4B Nonsynonymous SNV I48T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.62 205016 chr20 52198994 52198994 C T rs375354732 ZNF217 Synonymous SNV K124K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.263 205017 chr12 46760667 46760667 C T SLC38A2 Synonymous SNV T81T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.35 205018 chr15 98504208 98504208 C A rs190697600 ARRDC4 Synonymous SNV A39A 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 20.9 205019 chr4 42466780 42466780 G C rs376699635 ATP8A1 Nonsynonymous SNV A834G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 205020 chr15 99500304 99500304 G A rs45512296 IGF1R Nonsynonymous SNV R1246H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 205021 chr4 44697670 44697670 G A rs116110746 GUF1 Nonsynonymous SNV R261Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 205022 chr20 57613594 57613594 A G rs749985146 PRELID3B Nonsynonymous SNV I43T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 205023 chr10 55582230 55582232 AGG - rs397517462 PCDH15 P1712del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 205024 chr16 11647497 11647497 C T rs200789696 LITAF Nonsynonymous SNV R90H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.03 205025 chr20 60640306 60640311 GCCAGG - rs200074661 TAF4 P186_G187del 0.003 0.01 0.014 2 4 4 0.005 4 2 2 2 1 205026 chr20 60907450 60907450 G C rs979892001 LAMA5 Nonsynonymous SNV A1177G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 205027 chr10 64973348 64973348 T C rs201696710 JMJD1C Nonsynonymous SNV Y641C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 205028 chr16 1538425 1538425 C A rs149153276 PTX4 Nonsynonymous SNV S15I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.96 205029 chr12 50745703 50745703 T G rs201307392 FAM186A Nonsynonymous SNV T1638P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.001 205030 chr19 10670596 10670596 C G rs142580156 KRI1 Nonsynonymous SNV V273L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.73 205031 chr15 30019055 30019055 A C rs373357873 TJP1 Synonymous SNV S747S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.006 205032 chr17 7240074 7240074 C T rs191833549 ACAP1 Synonymous SNV F7F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 205033 chr17 76497959 76497959 C T rs758811546 DNAH17-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.692 205034 chr20 62203547 62203547 G A rs552383687 HELZ2 Synonymous SNV H64H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.277 205035 chr19 12297847 12297847 C T rs373676493 ZNF136 Synonymous SNV H152H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 205036 chr20 62701681 62701681 C G TCEA2 Nonsynonymous SNV L196V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 205037 chr17 73499471 73499471 G A rs557349291 CASKIN2 Synonymous SNV L524L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.089 205038 chr12 53085053 53085053 C A rs574919551 KRT77 Nonsynonymous SNV G545C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.24 205039 chr19 13994158 13994158 C T rs551004785 C19orf57 Nonsynonymous SNV V489I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.285 205040 chr17 73892684 73892684 C G rs746808889 TRIM65 Nonsynonymous SNV C112S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 205041 chr19 14263137 14263138 AG - ADGRL1 P1211Rfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 205042 chr12 53202123 53202123 C T rs113928381 KRT4 Synonymous SNV R360R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 11.02 205043 chr17 74133870 74133870 G A FOXJ1 Nonsynonymous SNV P277L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 205044 chr17 74469748 74469748 C T RHBDF2 Nonsynonymous SNV C572Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 205045 chr21 30715085 30715085 G C rs780086183 BACH1 Nonsynonymous SNV Q714H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 205046 chr21 32201778 32201778 G A KRTAP7-1 Nonsynonymous SNV S80F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.22 205047 chr10 83637725 83637725 T C rs373916096 NRG3 Synonymous SNV C3C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.486 205048 chr16 2988283 2988283 A G rs993543593 FLYWCH1 Nonsynonymous SNV K626E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 205049 chr10 89623987 89623987 - CCGCTGCCG rs1056356598 PTEN A99_R100insAAA 0.003 0 0 1 3 0 0.003 0 0 0 0 0 205050 chr21 34927487 34927507 CGGAGCCGCACCCCTAGCCGT - rs754410293 SON S1992_R1998del 0 0 0.003 0 0 0 0 1 0 0 0 0 205051 chr12 56088079 56088079 C T rs923021284 ITGA7 Nonsynonymous SNV R350Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.14 205052 chr16 31144263 31144263 T C rs757972895 PRSS8 Nonsynonymous SNV K93R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 205053 chr12 56814869 56814869 T C rs562490184 TIMELESS Nonsynonymous SNV E972G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 205054 chr10 94688179 94688179 G - EXOC6 G302Vfs*6 0.003 0 0 1 3 0 0.003 0 0 0 0 0 205055 chr19 16859994 16859994 C T rs140045971 NWD1 Nonsynonymous SNV R181W 0.001 0 0 0 1 0 0 0 0 0 0 0 7.322 205056 chr19 16973361 16973361 C T rs143890995 SIN3B Synonymous SNV I419I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 205057 chr10 96109021 96109021 C G rs77146582 NOC3L Nonsynonymous SNV E415Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.9 205058 chr12 57593799 57593799 G A rs140567402 LRP1 Synonymous SNV T3335T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.159 205059 chr19 12223453 12223453 G A rs568732846 ZNF788P Nonsynonymous SNV R364H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 205060 chr10 98133428 98133428 C T rs776504923 TLL2 Nonsynonymous SNV G863S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 205061 chr18 13049773 13049773 A G rs934102529 CEP192 Nonsynonymous SNV N967S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 205062 chr16 4432740 4432740 C T rs775296929 VASN Nonsynonymous SNV P621L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 205063 chr4 119951959 119951959 C A rs200716335 SYNPO2 Nonsynonymous SNV P677T 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 205064 chr17 78935270 78935270 G A rs147241989 RPTOR Nonsynonymous SNV V1070M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 205065 chr16 4721399 4721399 G A rs774328339 MGRN1 Nonsynonymous SNV R245Q 0.001 0 0 0 1 0 0 0 0 0 0 0 30 205066 chr16 4748458 4748458 C T rs201289279 ANKS3 Nonsynonymous SNV R392Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 205067 chr4 122766731 122766731 T C rs146617227 BBS7 Synonymous SNV T386T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.176 205068 chr12 64812807 64812807 T C rs376485143 XPOT Nonsynonymous SNV L141P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 205069 chr21 45497652 45497652 G T TRAPPC10 Nonsynonymous SNV A19S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 205070 chr19 15164334 15164334 G A rs61731994 CASP14 Synonymous SNV L23L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.389 205071 chr12 6753379 6753379 G A ACRBP Stop gain R290X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 205072 chr21 47548829 47548829 C T rs751513910 COL6A2 Nonsynonymous SNV A825V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.861 205073 chr18 30804830 30804830 C T rs759906598 CCDC178 Nonsynonymous SNV C576Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 205074 chr19 15918483 15918483 C T rs61746482 OR10H1 Nonsynonymous SNV R122H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.7 205075 chr16 57732052 57732052 C G DRC7 Stop gain S64X 0.002 0 0 0 2 0 0 0 0 0 0 0 26 205076 chr22 17590297 17590297 A G IL17RA Nonsynonymous SNV S696G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.913 205077 chr16 57803509 57803509 C T rs781935161 KIFC3 Nonsynonymous SNV E304K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 205078 chr19 17056453 17056453 C T rs749114855 CPAMD8 Nonsynonymous SNV R900Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 205079 chr19 22715236 22715236 C A LOC105376917 0.001 0 0 0 1 0 0 0 0 0 0 0 4.988 205080 chr12 80770980 80770980 C T rs35010860 OTOGL Nonsynonymous SNV P2278S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 12.26 205081 chr16 68048254 68048254 A G DPEP2NB Synonymous SNV C43C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.471 205082 chr16 68289698 68289698 C T rs374139093 PLA2G15 Nonsynonymous SNV R178C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 205083 chr16 68847302 68847302 G A rs200161607 CDH1 Synonymous SNV A408A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.776 205084 chr22 23605931 23605931 G T rs191636858 FBXW4P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.369 205085 chr22 24563104 24563104 C T rs200993598 CABIN1 Synonymous SNV H1785H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.285 205086 chr16 71317545 71317545 T C rs778629819 CMTR2 Nonsynonymous SNV E760G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 205087 chr19 17945708 17945708 C G rs146837396 JAK3 Nonsynonymous SNV V718L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 205088 chr22 28378780 28378780 C T rs371102203 TTC28 Nonsynonymous SNV S2292N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.8 205089 chr19 18286494 18286494 G T rs773765965 IFI30 Nonsynonymous SNV R157I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 205090 chr22 30221122 30221122 C T rs201743652 ASCC2 Nonsynonymous SNV S8N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.72 205091 chr11 108044227 108044227 G A rs533844844 NPAT Nonsynonymous SNV P495L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 205092 chr4 187201417 187201417 G - rs786204722 F11 G303Efs*46 0 0.003 0 0 0 1 0 0 0 0 0 0 205093 chr4 187510071 187510071 C T rs762511876 FAT1 Nonsynonymous SNV R4481Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 205094 chr22 31283494 31283494 G A rs200799345 OSBP2 Nonsynonymous SNV V31M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 205095 chr16 81973597 81973597 A G rs61755443 PLCG2 Synonymous SNV E1138E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.259 205096 chr11 113813775 113813775 G A HTR3B Synonymous SNV V245V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.76 205097 chr22 36689393 36689393 G A rs199693307 MYH9 Synonymous SNV I1359I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 205098 chr22 36716344 36716344 G A rs202045249 MYH9 Synonymous SNV P311P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 13.36 205099 chr19 2230579 2230579 C T rs766054579 PLEKHJ1 Synonymous SNV P139P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.852 205100 chr11 116692592 116692592 A C APOA4 Nonsynonymous SNV L61R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 205101 chr22 37966703 37966703 G T rs148503336 LGALS2 Nonsynonymous SNV N43K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 205102 chr18 72998211 72998211 C G rs140283079 TSHZ1 Synonymous SNV T283T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 2.547 205103 chr19 24309361 24309361 C T rs202000799 ZNF254 Nonsynonymous SNV R102C 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 8.798 205104 chr18 74153319 74153319 C G rs772056352 ZNF516 Synonymous SNV S564S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 205105 chr18 55024478 55024478 A C ST8SIA3 Nonsynonymous SNV S213R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.4 205106 chr13 23906842 23906842 C T rs751063261 SACS Nonsynonymous SNV G3578S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 205107 chr19 33696478 33696478 C G LRP3 Nonsynonymous SNV P268A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 205108 chr22 45258244 45258244 C T rs141245253 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV V357V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.62 205109 chr19 35524624 35524624 C T SCN1B Synonymous SNV H143H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.638 205110 chr22 46345959 46345959 G A rs1036409447 WNT7B Nonsynonymous SNV R47W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 205111 chr22 50659629 50659629 G A rs768743183 TUBGCP6 Synonymous SNV H1053H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.625 205112 chr19 11508199 11508199 C T rs201609417 RGL3 Synonymous SNV P607P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.25 205113 chr13 41827092 41827092 A T rs111844601 MTRF1 Synonymous SNV T194T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 2.662 205114 chr16 89805915 89805915 G A rs141278771 FANCA Synonymous SNV H1327H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.034 205115 chr16 1545519 1545519 C T rs148894015 TELO2 Nonsynonymous SNV R170C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 205116 chr17 10428113 10428113 C T rs145740522 MYH2 Synonymous SNV E1644E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.08 205117 chr2 106471618 106471618 C T rs142276939 NCK2 Synonymous SNV D33D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 205118 chr2 106690444 106690444 G C rs774800281 ECRG4 Nonsynonymous SNV R77P 0 0 0.003 0 0 0 0 1 0 0 0 0 30 205119 chr19 38987583 38987583 G A RYR1 Nonsynonymous SNV D2294N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 205120 chr19 1491359 1491359 G T REEP6 Nonsynonymous SNV V31L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.873 205121 chr2 109086981 109086981 G A GCC2 Nonsynonymous SNV C399Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.535 205122 chr11 134022934 134022934 G A rs752232158 NCAPD3 Stop gain Q1330X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 38 205123 chr19 10221812 10221812 C T rs752527023 PPAN Nonsynonymous SNV R412W 0.001 0 0 0 1 0 0 0 0 0 0 0 6.995 205124 chr11 134080253 134080253 T C rs766087793 NCAPD3 Nonsynonymous SNV K22E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 205125 chr19 15121967 15121967 G T CCDC105 Synonymous SNV P110P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.83 205126 chr11 16007884 16007884 C T SOX6 Synonymous SNV E656E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 205127 chr11 16892715 16892715 G A rs949123135 PLEKHA7 Nonsynonymous SNV T79I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.8 205128 chr17 1704146 1704146 T A rs139571127 SMYD4 Nonsynonymous SNV D181V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.014 205129 chr19 40357682 40357682 C T rs148773345 FCGBP Nonsynonymous SNV A5211T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.39 205130 chr11 18636920 18636920 G A rs138155181 SPTY2D1 Nonsynonymous SNV R301C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.94 205131 chr19 16617563 16617563 A G rs765438991 C19orf44 Nonsynonymous SNV E376G 0 0.005 0 0 0 2 0 0 0 1 0 0 19.52 205132 chr11 92532936 92532936 G T FAT3 Nonsynonymous SNV A2253S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.77 205133 chr2 128477043 128477043 C T WDR33 Synonymous SNV L852L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 205134 chr2 131520183 131520183 G A rs201307390 AMER3 Nonsynonymous SNV E180K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 205135 chr2 131520678 131520678 G T rs200166860 AMER3 Nonsynonymous SNV A345S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.148 205136 chr19 45821215 45821215 C T rs11559023 CKM Synonymous SNV V72V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.76 205137 chr19 17379756 17379756 C A rs766080846 BABAM1 Nonsynonymous SNV S47R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28 205138 chr19 42383302 42383302 G A CD79A Nonsynonymous SNV V108I 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 205139 chr19 42409958 42409958 C A ARHGEF1 Synonymous SNV R762R 0.003 0 0 0 3 0 0 0 0 0 0 0 20.7 205140 chr5 96086376 96086376 C T rs776708908 CAST Nonsynonymous SNV P368L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 205141 chr19 4362669 4362669 G A SH3GL1 Nonsynonymous SNV L217F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 205142 chr5 96500755 96500755 T C rs760609470 RIOK2 Synonymous SNV P498P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.402 205143 chr19 15483890 15483890 C G rs778397344 AKAP8 Synonymous SNV V211V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.35 205144 chr19 48654584 48654584 G A rs182781112 LIG1 Nonsynonymous SNV P129L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 205145 chr19 15754809 15754809 C T rs548939401 CYP4F3 Synonymous SNV P97P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 205146 chr19 48814908 48814908 - ACG rs779459076 CCDC114 F129_D130insR 0.003 0.003 0 0 3 1 0 0 0 0 0 0 205147 chr5 115323513 115323513 C T rs148676489 LVRN Nonsynonymous SNV R328C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 205148 chr11 3381624 3381624 T A ZNF195 Nonsynonymous SNV N133I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 205149 chr19 44934151 44934151 C T rs553024331 ZNF229 Nonsynonymous SNV E263K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 205150 chr19 1619425 1619425 T C TCF3 Nonsynonymous SNV S406G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 205151 chr19 2138704 2138704 T C rs200421680 AP3D1 Nonsynonymous SNV I36V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.7 205152 chr19 49685939 49685939 C G rs56118173 TRPM4 Synonymous SNV T102T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.94 205153 chr16 46637916 46637916 C G rs199576557 SHCBP1 Nonsynonymous SNV E277Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.35 205154 chr19 23927242 23927242 T C rs149767951 ZNF681 Synonymous SNV E370E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.071 205155 chr19 45860928 45860928 C T rs143710107 ERCC2 Nonsynonymous SNV D423N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 205156 chr17 34171885 34171885 C T rs770998506 TAF15 Nonsynonymous SNV R525W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 205157 chr19 17766787 17766787 G A rs200998509 UNC13A Synonymous SNV P396P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.382 205158 chr14 23559260 23559260 A T rs749272553 ACIN1 Nonsynonymous SNV S181T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 205159 chr2 173679021 173679021 C T rs766619818 RAPGEF4 Synonymous SNV I104I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.178 205160 chr2 173882182 173882182 C T rs373366834 RAPGEF4 Nonsynonymous SNV T433M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 205161 chr5 139909108 139909108 A G rs931609608 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV I2193V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 205162 chr19 1816807 1816807 G A rs544889589 REXO1 Synonymous SNV Y1069Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.245 205163 chr14 23995328 23995328 G A rs769693265 ZFHX2 Nonsynonymous SNV R1275C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 205164 chr14 24542179 24542179 C T CPNE6 Nonsynonymous SNV P12S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.1 205165 chr2 179397346 179397346 G C rs201240519 TTN Nonsynonymous SNV P25601A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 205166 chr2 179576779 179576779 C A rs777920428 TTN Nonsynonymous SNV A8016S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 205167 chr5 140745673 140745673 A G rs375843095 PCDHGA5 Synonymous SNV V592V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.454 205168 chr2 182780105 182780105 G A rs752666762 ITPRID2 Nonsynonymous SNV E427K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.559 205169 chr2 183702711 183702711 C A FRZB Stop gain E276X 0 0 0.003 0 0 0 0 1 0 0 0 0 45 205170 chr16 66793153 66793153 A C TERB1 Nonsynonymous SNV F607L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 205171 chr2 187559099 187559099 A G rs750932658 FAM171B Nonsynonymous SNV T67A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.039 205172 chr19 2244584 2244584 C T rs373814159 SF3A2 Synonymous SNV C56C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.759 205173 chr19 23837276 23837277 AA - ZNF675 Stop gain F153* 0.001 0 0 0 1 0 0 0 0 0 0 0 205174 chr19 38056362 38056362 G T rs377173021 ZNF571 Nonsynonymous SNV T323K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.17 205175 chr19 38384279 38384283 AAAGG - rs748317096 WDR87 S687Yfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 205176 chr2 20701010 20701019 GTGAGAAAAC - rs1029157017 LOC107985856 0 0 0.003 0 0 0 0 1 0 0 0 0 205177 chr14 54997715 54997715 T C CGRRF1 Synonymous SNV L173L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.399 205178 chr5 150947862 150947862 C T rs201835676 FAT2 Nonsynonymous SNV V211I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 205179 chr19 38964366 38964366 C T rs370966353 RYR1 Nonsynonymous SNV A1372V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.942 205180 chr19 51584856 51584856 G A rs373793602 KLK14 Nonsynonymous SNV R49C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 205181 chr5 154271212 154271212 C T rs200206273 GEMIN5 Nonsynonymous SNV R1283H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.88 205182 chr2 209190514 209190514 C T rs754429839 PIKFYVE Synonymous SNV S993S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.783 205183 chr2 21233719 21233719 C G rs148252000 APOB Synonymous SNV V2007V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.865 205184 chr11 5462245 5462245 C T rs373885594 OR51I1 Nonsynonymous SNV R167Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 205185 chr11 55322837 55322837 G A rs757205495 OR4C15 Nonsynonymous SNV R298K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 205186 chr19 55869569 55869569 C T FAM71E2 Synonymous SNV T889T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 205187 chr17 4448383 4448383 C T rs752053834 MYBBP1A Nonsynonymous SNV G750R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 205188 chr11 55595156 55595156 G A rs144734181 OR5L2 Synonymous SNV V154V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.259 205189 chr11 5566076 5566076 G A rs139835065 OR52H1 Synonymous SNV Y226Y 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 0.002 205190 chr2 220111431 220111431 G T STK16 Nonsynonymous SNV A47S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 205191 chr5 174943618 174943618 C A rs776084732 SFXN1 Nonsynonymous SNV H200N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.175 205192 chr2 220290674 220290674 G A rs73991549 DES Nonsynonymous SNV V459I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.77 205193 chr2 220348541 220348541 C T SPEG Nonsynonymous SNV P2119L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 205194 chr17 46871642 46871642 T C rs112337907 TTLL6 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.727 205195 chr5 176918115 176918115 C T rs749878127 PDLIM7 Nonsynonymous SNV S144N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 205196 chr5 176918119 176918119 C A rs757400041 PDLIM7 Nonsynonymous SNV A143S 0 0.003 0 0 0 1 0 0 0 0 0 0 12 205197 chr14 74970305 74970305 G A rs149717255 LTBP2 Synonymous SNV H1529H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.258 205198 chr2 228163475 228163475 G A rs190598500 COL4A3 Nonsynonymous SNV G1277S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 205199 chr14 77723031 77723031 G A rs769044294 TMEM63C Nonsynonymous SNV E795K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 205200 chr19 41066069 41066069 G A rs148976057 SPTBN4 Nonsynonymous SNV R568Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 205201 chr19 57932299 57932299 T C ZNF17 Nonsynonymous SNV V480A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.933 205202 chr2 231775126 231775126 C T rs201096034 GPR55 Synonymous SNV P184P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.624 205203 chr19 58265659 58265659 C T ZNF776 Synonymous SNV S387S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 205204 chr17 56383205 56383205 T C rs142624026 TSPOAP1 Nonsynonymous SNV Q1689R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 205205 chr17 10304050 10304050 G A rs373278832 MYH8 Nonsynonymous SNV S1131F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 205206 chr19 58991384 58991384 C T rs764011980 ZNF446 Nonsynonymous SNV S267L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 205207 chr19 5904994 5904994 C T VMAC Synonymous SNV D31D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 205208 chr19 5915022 5915022 C T rs536852220 CAPS Synonymous SNV G111G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.56 205209 chr14 92548762 92548762 T G rs770983214 ATXN3 Synonymous SNV S98S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.662 205210 chr14 93460333 93460333 C T rs201813148 ITPK1 Nonsynonymous SNV D86N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.1 205211 chr6 17292048 17292048 G A rs80303690 RBM24 Nonsynonymous SNV V92I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 205212 chr11 5776877 5776877 C T rs199613473 OR52N4 Stop gain R303X 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 34 205213 chr6 20126747 20126747 C T MBOAT1 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 205214 chr2 239136406 239136406 G A rs141496085 LINC02610 0 0 0.003 0 0 0 0 1 0 0 0 0 6.94 205215 chr6 24563596 24563596 G A rs144337049 KIAA0319 Nonsynonymous SNV S272L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 205216 chr6 25770657 25770657 C G SLC17A4 Nonsynonymous SNV P193A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 205217 chr17 18088202 18088202 C T rs754685122 ALKBH5 Synonymous SNV I215I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 205218 chr6 26045782 26045782 C A rs145110843 H3C3 Synonymous SNV A48A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.334 205219 chr17 19641744 19641744 G A rs57555435 ALDH3A1 Synonymous SNV Y413Y 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.84 205220 chr15 25924540 25924540 T C rs751202180 ATP10A Nonsynonymous SNV Q1483R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 205221 chr11 5968678 5968678 C A rs1012270841 OR56A3 Synonymous SNV P34P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 205222 chr17 7230505 7230505 T C rs776157645 NEURL4 Nonsynonymous SNV N258D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.842 205223 chr2 27930510 27930510 G C rs200554877 LINC01460 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 205224 chr17 73484083 73484083 G A rs115172070 TMEM94 Synonymous SNV A170A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.51 205225 chr17 26694896 26694896 G A VTN Synonymous SNV G388G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.477 205226 chr2 29294084 29294084 G T rs202196567 PCARE Nonsynonymous SNV S1015Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 10.71 205227 chr19 47910678 47910678 T C rs762463458 MEIS3 Nonsynonymous SNV Y272C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 205228 chr15 42743873 42743873 G A rs200166493 ZNF106 Synonymous SNV H176H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.734 205229 chr6 41895232 41895232 A T rs201709932 BYSL Nonsynonymous SNV E130V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.6 205230 chr2 46739489 46739489 A G rs147855126 ATP6V1E2 Nonsynonymous SNV L121P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 28 205231 chr19 50316337 50316337 A G FUZ Synonymous SNV T9T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 205232 chr6 42626546 42626546 G A UBR2 Nonsynonymous SNV A1076T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 205233 chr17 34398349 34398349 C G CCL18 Nonsynonymous SNV P73R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 205234 chr6 42713218 42713218 G A rs758474798 TBCC Synonymous SNV A198A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.9 205235 chr19 51022448 51022448 G A rs780643415 LRRC4B Synonymous SNV P174P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.366 205236 chr6 43413575 43413575 G A rs369686699 ABCC10 Nonsynonymous SNV R1062Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 205237 chr6 44243418 44243418 G T TMEM151B Synonymous SNV V285V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.755 205238 chr2 55831178 55831178 T C PPP4R3B Nonsynonymous SNV Y78C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 205239 chr17 37825998 37825998 C T rs72554035 PNMT Nonsynonymous SNV R107C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 205240 chr15 54556529 54556529 A C UNC13C Synonymous SNV T1204T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 205241 chr19 9021118 9021118 C T rs79498466 MUC16 Nonsynonymous SNV G12402E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.37 205242 chr2 68385586 68385586 G T PNO1 Nonsynonymous SNV K94N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 205243 chr11 66102527 66102527 C T rs138640780 RIN1 Nonsynonymous SNV R220H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 205244 chr6 52053893 52053893 G A rs151317528 IL17A Nonsynonymous SNV E91K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 205245 chr15 64689826 64689826 G A rs144113386 TRIP4 Nonsynonymous SNV V143I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.44 205246 chr15 65686825 65686825 C T rs143372325 IGDCC4 Synonymous SNV A546A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 205247 chr15 66044871 66044871 G A rs533004730 DENND4A Nonsynonymous SNV S136L 0 0 0 1 0 0 0.003 0 0 0 0 0 29 205248 chr2 74597797 74597797 G C rs200952455 DCTN1 Nonsynonymous SNV D199E 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Benign/Likely benign 0.002 205249 chr2 74746325 74746325 G A rs145142264 DQX1 Synonymous SNV Y613Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.019 205250 chr2 74759785 74759785 C T rs150357486 HTRA2 Synonymous SNV P385P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.82 205251 chr2 74906852 74906852 G A rs765697118 SEMA4F Nonsynonymous SNV R455Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 205252 chr19 53344386 53344386 C T rs756022196 ZNF468 Synonymous SNV E387E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.5 205253 chr11 6913094 6913094 A T OR2D2 Nonsynonymous SNV L213Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.6 205254 chr19 9921643 9921643 A C rs141270080 FBXL12 Nonsynonymous SNV C271G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.401 205255 chr6 74446194 74446194 C T rs756949023 CD109 Nonsynonymous SNV P122L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 205256 chr17 8273320 8273320 A G rs140199749 KRBA2 Nonsynonymous SNV I122T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 205257 chr6 75953493 75953493 C T rs778258296 COX7A2 Synonymous SNV L18L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.471 205258 chr17 9536215 9536215 C T rs149428354 CFAP52 Synonymous SNV D327D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.85 205259 chr1 101196787 101196787 G C rs3783613 VCAM1 Nonsynonymous SNV G321A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.153 205260 chr1 101383649 101383649 A T rs771220332 SLC30A7 Nonsynonymous SNV K224N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 205261 chr11 70332039 70332039 G A SHANK2 Synonymous SNV S865S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.611 205262 chr18 10704443 10704443 G A rs776951650 PIEZO2 Synonymous SNV S1956S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 14.42 205263 chr1 107599490 107599490 C G PRMT6 Stop gain Y51X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 205264 chr11 74168493 74168493 G C rs34604640 KCNE3 Nonsynonymous SNV P39R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.46 205265 chr1 109807559 109807559 G A rs756104863 CELSR2 Nonsynonymous SNV R1845H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 205266 chr3 102171838 102171838 C T ZPLD1 Nonsynonymous SNV S77L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 205267 chr19 56466870 56466870 G A rs369750431 NLRP8 Synonymous SNV T482T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.981 205268 chr19 56671215 56671215 C T rs560741119 ZNF444 Nonsynonymous SNV P209L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 205269 chr1 110655595 110655595 G A rs577849613 UBL4B Nonsynonymous SNV A147T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.703 205270 chr11 76883850 76883850 G A rs35429535 MYO7A Synonymous SNV L618L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.76 205271 chr3 109213227 109213227 G A rs13434124 LINC01205 0 0 0.007 0 0 0 0 2 0 0 0 0 3.217 205272 chr6 109775149 109775149 C A rs141098491 MICAL1 Nonsynonymous SNV S84I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.4 205273 chr6 110714122 110714122 A G rs144649963 DDO Synonymous SNV D181D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.019 205274 chr3 113503138 113503138 C T ATP6V1A Synonymous SNV G93G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 205275 chr3 114057987 114057987 T C ZBTB20 Synonymous SNV P697P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 205276 chr11 82888147 82888147 C G rs372240022 PCF11 Nonsynonymous SNV P1391A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 205277 chr18 43418750 43418750 - GC rs558491138 SIGLEC15 Frameshift insertion E190Pfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 205278 chr1 152800133 152800133 C T LCE1A Nonsynonymous SNV S62F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 205279 chr3 122345780 122345780 C A rs759214290 PARP15 Synonymous SNV V212V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 205280 chr1 153934786 153934786 C A rs138894603 SLC39A1 Synonymous SNV A76A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.62 205281 chr18 52604148 52604148 G A rs747918940 CCDC68 Synonymous SNV N129N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 205282 chr6 129618974 129618974 C T LAMA2 Nonsynonymous SNV H1001Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.7 205283 chr3 124870376 124870376 C G rs11713052 MIR5092 0 0 0.01 0 0 0 0 3 0 0 0 0 3.545 205284 chr3 127323567 127323567 G A rs139163788 MCM2 Nonsynonymous SNV R118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 205285 chr1 156347110 156347110 C G RHBG Nonsynonymous SNV A69G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 205286 chr19 8003040 8003040 C T rs144317041 TIMM44 Nonsynonymous SNV G62S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 22.8 205287 chr11 993826 993826 G C rs753325298 AP2A2 Synonymous SNV L542L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.79 205288 chr17 56833622 56833622 G C rs987438080 PPM1E Nonsynonymous SNV E88D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 205289 chr6 151220033 151220033 G A rs542731116 MTHFD1L Nonsynonymous SNV R273H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 1.434 205290 chr3 134277136 134277136 G A rs140668390 CEP63 Synonymous SNV R494R 0.003 0.013 0.007 0 4 5 0 2 0 1 0 0 Benign/Likely benign 10.06 205291 chr3 137787099 137787099 T G rs746208976 DZIP1L Nonsynonymous SNV S576R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.121 205292 chr6 152730273 152730273 T C rs75989452 SYNE1 Nonsynonymous SNV K2164R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 7.813 205293 chr1 154233582 154233582 C T rs371765310 UBAP2L Synonymous SNV F931F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.04 205294 chr6 154520968 154520968 A C rs201458122 IPCEF1 Synonymous SNV P248P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 205295 chr6 157470068 157470068 G C rs148749268 ARID1B Synonymous SNV A191A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.221 205296 chr19 8188397 8188397 G A rs145240162 FBN3 Synonymous SNV C1011C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.856 205297 chr19 8551951 8551951 A G rs764030351 HNRNPM Nonsynonymous SNV N539S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 205298 chr1 155269991 155269991 G A rs8177962 PKLR Synonymous SNV L61L 0.005 0.005 0 0 6 2 0 0 0 0 0 0 Benign/Likely benign 8.818 205299 chr18 9887586 9887586 G A rs141824629 TXNDC2 Synonymous SNV K370K 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 3.487 205300 chr12 112699118 112699118 C T rs141477684 HECTD4 Nonsynonymous SNV R955H 0.005 0 0 6 6 0 0.015 0 0 0 0 0 26.7 205301 chr1 156214566 156214566 C T rs754179418 PAQR6 Nonsynonymous SNV A27T 0.003 0 0 0 3 0 0 0 0 0 0 0 29.8 205302 chr16 2121811 2121811 A C rs397515223 TSC2 Nonsynonymous SNV K458T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 205303 chr3 151150568 151150568 G A rs142871635 MED12L Synonymous SNV P2138P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.13 205304 chr3 15270564 15270564 C T rs147889987 CAPN7 Synonymous SNV T312T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 205305 chr1 16459827 16459827 G A rs371377772 EPHA2 Nonsynonymous SNV T580I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.054 205306 chr1 156702121 156702121 G A rs548109086 RRNAD1 Synonymous SNV A95A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.129 205307 chr19 9010987 9010987 A C rs563193038 MUC16 Synonymous SNV S12977S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 205308 chr19 991296 991296 C T rs371498222 WDR18 Synonymous SNV T292T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.12 205309 chr3 170732382 170732382 C T rs150851401 SLC2A2 Nonsynonymous SNV E83K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.97 205310 chr19 9067877 9067877 C T rs367710248 MUC16 Synonymous SNV P6523P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 205311 chr16 30616064 30616064 C G rs768771064 ZNF689 Nonsynonymous SNV E342Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 205312 chr7 2956924 2956924 C T CARD11 Synonymous SNV Q901Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.914 205313 chr3 183490270 183490270 A G YEATS2 Nonsynonymous SNV I709V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.394 205314 chr3 183689618 183689618 T C rs756500118 ABCC5 Synonymous SNV A26A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.535 205315 chr16 31435522 31435522 C T rs767778632 ITGAD Stop gain Q1088X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 205316 chr19 14589504 14589504 G A rs771968155 GIPC1 Nonsynonymous SNV T184M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 205317 chr19 9362004 9362004 G A rs374982296 OR7E24 Synonymous SNV T95T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.444 205318 chr3 187447317 187447317 G A BCL6 Synonymous SNV P292P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 205319 chr3 194344357 194344357 C T rs35689136 TMEM44 Synonymous SNV P142P 0 0 0.007 0 0 0 0 2 0 0 0 0 18.65 205320 chr1 169586336 169586336 C G rs201933810 SELP Nonsynonymous SNV K137N 0.003 0 0 0 4 0 0 0 0 0 0 0 26.1 205321 chr3 195516371 195516371 T C rs201534662 MUC4 Nonsynonymous SNV T694A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 205322 chr12 19467772 19467772 A G rs566447828 PLEKHA5 Nonsynonymous SNV T516A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.966 205323 chr12 25168150 25168150 G A rs146199613 LOC645177 Nonsynonymous SNV D302N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.011 205324 chr19 17622649 17622649 C T PGLS Synonymous SNV R56R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 205325 chr16 67331485 67331485 C T rs773958217 KCTD19 Synonymous SNV R356R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.33 205326 chr3 38927727 38927727 G C SCN11A Synonymous SNV A946A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.232 205327 chr1 182569617 182569617 G A rs376142721 RGS16 Nonsynonymous SNV T140M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 205328 chr3 42679457 42679457 G A rs754474927 NKTR Nonsynonymous SNV R754Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 205329 chr19 19744833 19744833 C T rs770840654 GMIP Nonsynonymous SNV V722M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 205330 chr1 183559352 183559352 C T rs147415774 NCF2 Nonsynonymous SNV R38Q 0.005 0 0 0 6 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 205331 chr19 21948511 21948511 C G rs550860903 ZNF100 Nonsynonymous SNV Q27H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 205332 chr19 21948513 21948513 G A rs569230674 ZNF100 Stop gain Q27X 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 205333 chr19 21948514 21948514 C A rs530281593 ZNF100 Synonymous SNV V26V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.726 205334 chr19 21948517 21948517 C T rs548577744 ZNF100 Synonymous SNV L25L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.946 205335 chr19 21948524 21948524 C T rs201163370 ZNF100 Nonsynonymous SNV S23N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 205336 chr19 2249626 2249626 A T rs200226465 AMH Nonsynonymous SNV T99S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 205337 chr7 73249125 73249125 G A rs139220872 METTL27 Nonsynonymous SNV P229L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.007 205338 chr1 154018655 154018655 C T rs183446732 NUP210L Nonsynonymous SNV V1196I 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.71 205339 chr12 48963755 48963755 T C rs749197732 LALBA Nonsynonymous SNV I17V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 205340 chr7 73922513 73922513 G C GTF2IRD1 Nonsynonymous SNV V35L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 205341 chr19 2456864 2456864 G T LMNB2 Nonsynonymous SNV T23K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 205342 chr12 49743098 49743098 G A rs140061344 DNAJC22 Nonsynonymous SNV R148H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.44 205343 chr3 47039180 47039180 G A rs770873276 NBEAL2 Nonsynonymous SNV R951Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.39 205344 chr3 47452144 47452149 GCCCCA - rs552397269 PTPN23 Q830_P831del 0 0 0.003 0 0 0 0 1 0 0 0 0 205345 chr7 82785646 82785646 C T rs201699382 PCLO Nonsynonymous SNV R104H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 22.7 205346 chr3 49215190 49215190 G A C3orf84 Nonsynonymous SNV P165L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.6 205347 chr7 82997019 82997019 T C rs2371545 SEMA3E Synonymous SNV R677R 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 Benign 0.396 205348 chr3 49695149 49695149 G A rs753959050 BSN Synonymous SNV T2720T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.018 205349 chr16 81736253 81736253 A G rs371561321 CMIP Synonymous SNV L547L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.464 205350 chr3 50617580 50617580 G A rs145272024 HEMK1 Synonymous SNV P300P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 205351 chr1 156626161 156626161 G A rs766307100 BCAN Nonsynonymous SNV G677E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 205352 chr19 3381907 3381907 G T rs144458967 NFIC Synonymous SNV L76L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.962 205353 chr1 153651589 153651589 C T rs13305995 NPR1 Nonsynonymous SNV P2L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 205354 chr1 153651600 153651600 C A rs13305996 NPR1 Nonsynonymous SNV R6S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 205355 chr7 91788333 91788333 T C LRRD1 Nonsynonymous SNV Q701R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 205356 chr19 35512716 35512716 G T rs768671862 GRAMD1A Synonymous SNV G560G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.537 205357 chr16 84513589 84513589 T C rs36033299 MEAK7 Nonsynonymous SNV Q434R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.146 205358 chr1 156909347 156909347 C T rs370742614 ARHGEF11 Synonymous SNV V1323V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 205359 chr1 15441165 15441165 G A rs568299954 TMEM51-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.078 205360 chr1 213178472 213178472 A G ANGEL2 Nonsynonymous SNV I177T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 24.4 205361 chr7 98645472 98645472 C T rs757758378 SMURF1 Synonymous SNV P329P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.38 205362 chr7 99144715 99144715 G A rs780218510 FAM200A Nonsynonymous SNV P439L 0 0.005 0 0 0 2 0 0 0 0 0 0 24 205363 chr19 36250322 36250322 T A PROSER3 Nonsynonymous SNV L20Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 205364 chr7 99631541 99631541 C T rs138782163 ZKSCAN1 Synonymous SNV S258S 0 0.005 0 0 0 2 0 0 0 0 0 0 12.5 205365 chr7 99661873 99661873 G A rs774647848 ZSCAN21 Nonsynonymous SNV R352K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 205366 chr7 99725631 99725631 G A rs146467476 MBLAC1 Nonsynonymous SNV A205T 0 0.005 0 0 0 2 0 0 0 0 0 0 18.66 205367 chr7 100033148 100033148 A G rs61739416 PPP1R35 Nonsynonymous SNV W154R 0 0.005 0 0 0 2 0 0 0 0 0 0 5.202 205368 chr3 57280144 57280144 A G APPL1 Nonsynonymous SNV K172R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 205369 chr16 88747903 88747903 C T rs138632824 SNAI3 Nonsynonymous SNV R99Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.23 205370 chr19 38126719 38126719 C T rs539792208 ZFP30 Synonymous SNV P241P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 205371 chr3 63898361 63898363 GCA - rs780440474 ATXN7 Q39del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 205372 chr1 222713535 222713535 G A rs144328016 HHIPL2 Nonsynonymous SNV R423C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 205373 chr3 66449406 66449406 C A rs910297614 LRIG1 Nonsynonymous SNV G407V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 205374 chr16 88967965 88967965 G A rs201395224 CBFA2T3 Nonsynonymous SNV P84L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.22 205375 chr1 209784835 209784835 C T rs369181812 CAMK1G Nonsynonymous SNV R285W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 205376 chr16 89016688 89016688 C T rs201566133 LOC100129697 Synonymous SNV T54T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 10.4 205377 chr1 209964141 209964141 A G rs41303263 IRF6 Synonymous SNV Y158Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.447 205378 chr16 89735782 89735782 C T rs139860991 SPATA33 Synonymous SNV V69V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.82 205379 chr16 89986023 89986023 C A rs755222490 MC1R Synonymous SNV V119V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 4.563 205380 chr3 9988090 9988090 G C PRRT3 Nonsynonymous SNV L923V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 205381 chr17 10544480 10544480 C T MYH3 Nonsynonymous SNV C696Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 205382 chr12 6143969 6143969 T C rs765163545 VWF Nonsynonymous SNV N857S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 22.4 205383 chr17 11881524 11881524 T C rs150200103 ZNF18 Nonsynonymous SNV D467G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.763 205384 chr1 228559052 228559052 C G OBSCN Nonsynonymous SNV P6858R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 205385 chr1 170993583 170993583 A G rs779148288 MROH9 Synonymous SNV L652L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 205386 chr1 231155814 231155814 G A rs147790876 FAM89A Nonsynonymous SNV S117L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 205387 chr4 113186911 113186911 C T rs61734509 AP1AR Synonymous SNV F121F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 205388 chr4 113199517 113199517 G A rs6834237 TIFA Nonsynonymous SNV T19M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 205389 chr1 224621396 224621396 A C WDR26 Nonsynonymous SNV L138V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.638 205390 chr4 113569207 113569207 G T rs138673224 MIR302D 0 0 0.007 0 0 0 0 2 0 0 0 0 16.9 205391 chr7 103138569 103138569 G A rs201656873 RELN Nonsynonymous SNV T2933I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 27 205392 chr4 120181745 120181745 C T rs371487024 USP53 Synonymous SNV S253S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 205393 chr12 7459236 7459236 C T rs1054724541 ACSM4 Synonymous SNV N103N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 205394 chr7 117874492 117874492 T C rs747638694 ANKRD7 Synonymous SNV L63L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 205395 chr12 78574739 78574739 C T NAV3 Nonsynonymous SNV S1847F 0 0 0 4 0 0 0.01 0 0 0 0 0 27 205396 chr1 240256576 240256576 T G rs747634491 FMN2 Synonymous SNV P389P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.694 205397 chr4 141334150 141334150 G A rs140230014 CLGN Nonsynonymous SNV T28M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 205398 chr19 4538618 4538618 G A rs139705163 LRG1 Synonymous SNV N126N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.054 205399 chr19 45871958 45871958 T A rs762743220 ERCC2 Nonsynonymous SNV Q73L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 205400 chr1 18703479 18703479 C T rs144001553 IGSF21 Synonymous SNV I429I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 19.63 205401 chr7 131908289 131908289 G A rs376773119 PLXNA4 Synonymous SNV P698P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 205402 chr7 135078711 135078711 G C CNOT4 Nonsynonymous SNV P526R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 205403 chr19 46733688 46733688 G A rs374452978 IGFL1 Synonymous SNV E79E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 205404 chr1 231483584 231483584 T G SPRTN Synonymous SNV T121T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 205405 chr17 27017961 27017961 C G rs144138350 SUPT6H Synonymous SNV V1171V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.74 205406 chr17 27380505 27380505 C A rs748101195 PIPOX Synonymous SNV V184V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.128 205407 chr17 27421041 27421041 C T rs750280486 MYO18A Nonsynonymous SNV R1135Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 205408 chr17 3181688 3181688 T C rs138102640 OR3A2 Nonsynonymous SNV N181S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 205409 chr7 140394594 140394594 C - rs756820259 ADCK2 P626Rfs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 205410 chr7 140394595 140394595 C A rs754286018 ADCK2 Nonsynonymous SNV P625T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 205411 chr7 140394601 140394601 T G rs758810980 ADCK2 X627G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.957 205412 chr19 48954385 48954385 A G rs201243351 GRWD1 Nonsynonymous SNV H307R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 205413 chr1 201195181 201195181 G T rs377163692 IGFN1 Synonymous SNV V3572V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 205414 chr7 143078856 143078856 C T rs371579974 ZYX Synonymous SNV P64P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.01 205415 chr1 18703328 18703328 C T rs12076815 IGSF21 Nonsynonymous SNV T379M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 34 205416 chr4 183714398 183714398 G T TENM3 Nonsynonymous SNV L2191F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 205417 chr17 3527384 3527384 G A rs146284695 SHPK Nonsynonymous SNV T151M 0 0 0 1 0 0 0.003 0 0 0 0 0 29 205418 chr19 49674846 49674846 C T rs141997826 TRPM4 Synonymous SNV N7N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.884 205419 chr1 24663257 24663257 T C rs191739265 GRHL3 Synonymous SNV H138H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.475 205420 chr1 19499756 19499756 C T rs139169105 UBR4 Synonymous SNV S1070S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.98 205421 chr1 19559498 19559498 T C EMC1 Nonsynonymous SNV I500V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.003 205422 chr17 37263682 37263682 C T rs146173470 PLXDC1 Nonsynonymous SNV R230H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 205423 chr1 26609000 26609000 G A rs143743472 UBXN11 Synonymous SNV D331D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.578 205424 chr19 18272828 18272828 G A rs762874163 PIK3R2 Nonsynonymous SNV E290K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 205425 chr7 151722929 151722929 C G GALNT11 Synonymous SNV P4P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 205426 chr17 38347609 38347609 C T rs113045849 RAPGEFL1 Synonymous SNV R308R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.08 205427 chr19 50882273 50882273 C T rs749254373 NR1H2 Synonymous SNV G157G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 205428 chr4 25819872 25819872 G C rs761970262 SEL1L3 Synonymous SNV L449L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.024 205429 chr19 50983471 50983471 C T rs770232858 EMC10 Nonsynonymous SNV A134V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.2 205430 chr1 28206440 28206440 C T rs201225150 THEMIS2 Nonsynonymous SNV A174V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.787 205431 chr1 209799048 209799048 G A rs761318412 LAMB3 Nonsynonymous SNV P641S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.035 205432 chr1 20141088 20141088 G A rs552016548 RNF186 Synonymous SNV I169I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.97 205433 chr19 51535220 51535220 G A rs760053890 KLK12 Synonymous SNV S123S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.457 205434 chr1 210412850 210412850 G T rs148780972 SERTAD4 Nonsynonymous SNV R63M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 205435 chr8 2954536 2954536 G A rs758876442 CSMD1 Nonsynonymous SNV R2325W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 205436 chr8 6728309 6728309 T C rs772408298 DEFB1 Nonsynonymous SNV H34R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.04 205437 chr1 204970298 204970298 C T rs926629824 NFASC Nonsynonymous SNV A1007V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 205438 chr13 41706288 41706288 C T rs769933190 KBTBD6 Synonymous SNV E120E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.164 205439 chr4 4864477 4864477 T C rs779513496 MSX1 Synonymous SNV R173R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.2 205440 chr4 53610401 53610401 C T rs893351371 ERVMER34-1 Synonymous SNV P429P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 205441 chr4 54362225 54362225 A G rs137886645 LNX1 Nonsynonymous SNV Y343H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.694 205442 chr8 11696015 11696015 C G rs747188802 FDFT1 Nonsynonymous SNV P217R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 205443 chr19 33075916 33075916 G A rs34724018 PDCD5 Synonymous SNV R55R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.75 205444 chr8 13356737 13356737 G A rs150334629 DLC1 Nonsynonymous SNV P282S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.37 205445 chr4 6064123 6064123 G C rs369235121 JAKMIP1 Synonymous SNV T327T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 10.15 205446 chr13 53277811 53277811 A T rs201037740 CNMD Stop gain Y307X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 205447 chr13 53420577 53420579 GCC - PCDH8 G665del 0 0 0 3 0 0 0.008 0 0 0 0 0 205448 chr4 6612630 6612630 G A rs550107736 MAN2B2 Synonymous SNV S710S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 205449 chr19 54567026 54567026 G A rs762908715 VSTM1 Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.764 205450 chr1 3427461 3427463 CGA - rs777451425 MEGF6 V373del 0.001 0 0 0 1 0 0 0 0 0 0 0 205451 chr13 84455448 84455448 C T rs368351965 SLITRK1 Synonymous SNV L65L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.623 205452 chr19 36004081 36004081 G A rs61742823 DMKN Synonymous SNV V99V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.42 205453 chr8 21983193 21983193 T C rs144643140 HR Synonymous SNV P486P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.052 205454 chr1 45799121 45799121 G A rs121908380 MUTYH Synonymous SNV Y90Y 0.004 0 0 2 5 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.58 205455 chr1 220364544 220364544 G - RAB3GAP2 F452Lfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 205456 chr1 42049071 42049071 C T rs370826624 HIVEP3 Synonymous SNV T466T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.031 205457 chr1 52212387 52212387 T G rs148909045 OSBPL9 Nonsynonymous SNV F43L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 14.05 205458 chr14 104624155 104624155 G A rs199764827 KIF26A Nonsynonymous SNV G267S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.009 205459 chr1 53370340 53370340 A G rs149630672 ECHDC2 Nonsynonymous SNV L196P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 29.2 205460 chr1 43830989 43830989 G A rs75531338 ELOVL1 Synonymous SNV L35L 0.004 0 0 5 5 0 0.013 0 0 0 0 0 2.458 205461 chr8 27509025 27509025 G T rs199959277 SCARA3 Nonsynonymous SNV G36V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 205462 chr19 39018347 39018347 G C rs55876273 RYR1 Nonsynonymous SNV E3578Q 0.004 0.013 0.007 2 5 5 0.005 2 0 0 0 0 Benign/Likely benign 13 205463 chr17 51901617 51901617 A G rs138760361 KIF2B Nonsynonymous SNV N408S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 205464 chr1 45811084 45811084 C T rs759218943 TESK2 Nonsynonymous SNV V299I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 205465 chr4 8417539 8417539 C T ACOX3 Nonsynonymous SNV G111D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 205466 chr1 46498278 46498278 A T rs371877469 MAST2 Nonsynonymous SNV D1142V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 205467 chr1 5934594 5934594 G A rs376351293 NPHP4 Synonymous SNV H544H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.597 205468 chr8 42294608 42294610 CTC - rs745588731 SLC20A2 E474del 0 0.003 0 0 0 1 0 0 0 0 0 0 205469 chr19 57133390 57133390 G T ZNF71 Synonymous SNV G245G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.459 205470 chr17 59485756 59485756 G A rs769551183 TBX2 Synonymous SNV S676S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 205471 chr8 68107672 68107672 C T rs760288295 CSPP1 Synonymous SNV D825D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.758 205472 chr1 230907814 230907814 C T CAPN9 Stop gain Q219X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 205473 chr19 58197999 58197999 C T rs753452696 ZNF551 Nonsynonymous SNV A91V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 205474 chr19 58437683 58437683 G T rs7245442 ZNF418 Nonsynonymous SNV S537R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.51 205475 chr19 44096747 44096747 G A rs199964549 IRGQ Nonsynonymous SNV R435W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.7 205476 chr1 232942218 232942218 G C rs770365421 MAP10 Nonsynonymous SNV K483N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 205477 chr5 109220349 109220349 C T rs533764253 LINC01848 0 0 0.003 0 0 0 0 1 0 0 0 0 6.877 205478 chr8 85799960 85799960 G C rs775694562 RALYL Nonsynonymous SNV E258D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 205479 chr1 5924535 5924535 G C rs201779243 NPHP4 Nonsynonymous SNV Q775E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 205480 chr5 112770363 112770363 G T rs200678550 TSSK1B Synonymous SNV P58P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 205481 chr14 23871926 23871926 C T rs144422878 MYH6 Nonsynonymous SNV E328K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 205482 chr1 62594536 62594536 T A rs187417242 PATJ Synonymous SNV I1730I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.3 205483 chr19 6147547 6147547 T C rs186319373 ACSBG2 Nonsynonymous SNV I53T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 205484 chr19 6433579 6433579 C T rs150906124 SLC25A41 Stop gain W42X 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 205485 chr1 65273026 65273026 A G rs200189118 RAVER2 Nonsynonymous SNV M517V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 205486 chr1 23756381 23756381 G A rs773383278 ASAP3 Nonsynonymous SNV P885S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 205487 chr5 1294116 1294116 G A rs367957748 TERT Synonymous SNV S295S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.106 205488 chr1 2523043 2523043 G A rs200566151 MMEL1 Synonymous SNV F731F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.29 205489 chr8 105026786 105026786 G A rs751622966 RIMS2 Nonsynonymous SNV A825T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 205490 chr1 26149787 26149787 A G rs1031564497 LOC646471 0 0.003 0 0 0 1 0 0 0 0 0 0 5.004 205491 chr1 65335006 65335006 G C rs767880569 JAK1 Nonsynonymous SNV P212R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 205492 chr8 110461608 110461608 G A rs747646955 PKHD1L1 Nonsynonymous SNV G2023R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.7 205493 chr1 67099800 67099800 T C SGIP1 Nonsynonymous SNV L46P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.19 205494 chr5 140012131 140012131 G A rs144018386 CD14 Synonymous SNV S146S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.809 205495 chr8 124664572 124664572 C T rs74884256 KLHL38 Nonsynonymous SNV A199T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.904 205496 chr1 32089306 32089306 C T rs35443818 HCRTR1 Synonymous SNV F307F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.8 205497 chr5 140166689 140166689 G A rs782213463 PCDHA1 Nonsynonymous SNV G272S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 205498 chr5 140535748 140535748 G A PCDHB17P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.622 205499 chr5 140725526 140725526 C A rs374899722 PCDHGA3 Synonymous SNV L642L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 205500 chr1 33745783 33745783 G A rs763991180 ZNF362 Synonymous SNV A136A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.91 205501 chr19 8966706 8966706 C T rs201434105 MUC16 Nonsynonymous SNV R14416Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 205502 chr1 9324394 9324394 G A rs150373672 H6PD Synonymous SNV T625T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 9.026 205503 chr5 140779968 140779968 G T PCDHGB5 Synonymous SNV T758T 0 0 0.007 0 0 0 0 2 0 0 0 0 17.54 205504 chr14 55509819 55509819 G A rs35504537 SOCS4 Synonymous SNV R20R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.369 205505 chr17 7366431 7366431 G A rs781001624 ZBTB4 Nonsynonymous SNV R624C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 205506 chr5 140870350 140870350 C T rs186292704 PCDHGC5 Nonsynonymous SNV R515W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 205507 chr1 94546152 94546152 G A rs61753057 ABCA4 Synonymous SNV P327P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.501 205508 chr1 94643229 94643229 T G rs61758881 ARHGAP29 Synonymous SNV T884T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.801 205509 chr1 89613326 89613326 C T rs186580098 GBP7 Nonsynonymous SNV G430E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 205510 chr1 248569512 248569512 A T rs897943933 OR2T1 Nonsynonymous SNV T73S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.182 205511 chr19 49249047 49249047 T C rs373691999 IZUMO1 Nonsynonymous SNV I24V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 205512 chr5 148596564 148596564 C T rs767983995 ABLIM3 Nonsynonymous SNV R238C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 205513 chr8 144649562 144649562 C G rs112599495 MROH6 Synonymous SNV A669A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.77 205514 chr5 150581176 150581176 T C rs948744503 CCDC69 Synonymous SNV Q66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.937 205515 chr14 68331839 68331839 T C rs777629735 RAD51B Synonymous SNV S145S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.437 205516 chr17 7696499 7696499 G A rs372245759 DNAH2 Synonymous SNV T2515T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.98 205517 chr8 144941801 144941801 C A rs201996221 EPPK1 Nonsynonymous SNV R1874L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.993 205518 chr1 28211893 28211893 A G rs141747760 THEMIS2 Nonsynonymous SNV Q108R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.713 205519 chr1 45294234 45294234 C T rs200584842 PTCH2 Nonsynonymous SNV A512T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 205520 chr1 45472399 45472399 C T rs780936179 HECTD3 Nonsynonymous SNV V564M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 205521 chr1 45479724 45479724 A G UROD Synonymous SNV Q206Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.337 205522 chr8 144995949 144995949 G A rs373341589 PLEC Synonymous SNV D2666D 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Benign/Likely benign 0.264 205523 chr8 145024783 145024783 C T rs200842821 PLEC Nonsynonymous SNV R31Q 0.002 0.005 0.003 3 2 2 0.008 1 0 0 0 0 Likely benign 17.05 205524 chr19 9434878 9434880 AAC - rs533440974 ZNF559 T9del 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 205525 chr5 161324407 161324407 A G rs142385746 GABRA1 Synonymous SNV K450K 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.566 205526 chr1 10713645 10713645 G A rs993273753 CASZ1 Synonymous SNV A823A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.244 205527 chr1 3511918 3511918 C T MEGF6 Synonymous SNV E120E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 9.176 205528 chr1 36054059 36054059 A G TFAP2E Nonsynonymous SNV T231A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 205529 chr5 167673834 167673834 G A rs375183566 TENM2 Nonsynonymous SNV V1725I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 205530 chr17 80041397 80041397 C T rs115708196 FASN Synonymous SNV P1779P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 10.38 205531 chr17 80151925 80151925 C G rs34543170 CCDC57 Nonsynonymous SNV E237Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 2.862 205532 chr1 109811755 109811755 G A rs147671089 CELSR2 Nonsynonymous SNV A2219T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.63 205533 chr5 170725801 170725801 T G rs141289901 RANBP17 Nonsynonymous SNV V1069G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.79 205534 chr1 55524212 55524212 G A rs146960060 PCSK9 Synonymous SNV S465S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.77 205535 chr5 176072482 176072482 G T rs773788240 EIF4E1B Nonsynonymous SNV R193S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.003 205536 chr1 41289800 41289800 C T rs371079509 KCNQ4 Nonsynonymous SNV R388W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 205537 chr5 176887438 176887438 C G rs34301370 DBN1 Nonsynonymous SNV R49P 0 0 0.003 0 0 0 0 1 0 0 0 0 33 205538 chr5 176900513 176900513 C T DBN1 Nonsynonymous SNV V4I 0 0 0.003 0 0 0 0 1 0 0 0 0 21 205539 chr20 33665969 33665969 C T rs139800499 TRPC4AP Synonymous SNV E59E 0.005 0.01 0 7 6 4 0.018 0 0 0 0 0 15.95 205540 chr14 92442496 92442496 C A rs145868557 TRIP11 Nonsynonymous SNV K1765N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 205541 chr18 10979646 10979646 C T rs879674484 PIEZO2 Nonsynonymous SNV R58Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 205542 chr9 19078197 19078197 T C rs759905248 HAUS6, HAUS6 Nonsynonymous SNV S390G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 205543 chr9 20740317 20740317 A G rs139972395 FOCAD Nonsynonymous SNV I124V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.005 205544 chr1 63069855 63069855 A T rs368728000 ANGPTL3 Nonsynonymous SNV T383S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 205545 chr5 179226518 179226518 G A rs1552436 MGAT4B Synonymous SNV P358P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.2 205546 chr5 179228623 179228623 G A rs272440 MGAT4B Synonymous SNV L134L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 8.912 205547 chr5 179287335 179287335 C G rs116382940 LOC100996419 0 0 0.003 0 0 0 0 1 0 0 0 0 0.297 205548 chr1 44437266 44437266 A G rs199599691 DPH2 Nonsynonymous SNV D96G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.06 205549 chr5 179297459 179297459 G A rs6896808 TBC1D9B Nonsynonymous SNV R841C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 205550 chr1 44463581 44463581 G A rs202054416 SLC6A9 Synonymous SNV I486I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 6.893 205551 chr20 42965963 42965963 C T rs146968536 R3HDML Nonsynonymous SNV R56C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 205552 chr18 24497233 24497233 A C rs762446256 CHST9 Nonsynonymous SNV L108V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.392 205553 chr19 54844989 54844989 C T rs139857472 LILRA4 Nonsynonymous SNV V452M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 205554 chr19 54844990 54844990 A G rs143313625 LILRA4 Synonymous SNV G451G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 205555 chr18 32826234 32826234 C T ZNF397 Nonsynonymous SNV S522L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 205556 chr1 7837243 7837243 C T rs762652944 VAMP3 Synonymous SNV N32N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 205557 chr15 28424159 28424159 C T rs543941865 HERC2 Nonsynonymous SNV V3013M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 205558 chr5 35965556 35965556 G A rs61733483 UGT3A1 Nonsynonymous SNV R259W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 205559 chr9 77683924 77683924 T G rs149351551 NMRK1 Nonsynonymous SNV T138P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 205560 chr1 79383604 79383604 C A rs200091440 ADGRL4 Nonsynonymous SNV K531N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 205561 chr5 37701164 37701164 C T rs61741266 WDR70 Synonymous SNV D377D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.86 205562 chr9 78969112 78969112 G A rs771357856 PCSK5 Nonsynonymous SNV C1717Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 205563 chr9 79117312 79117312 G A rs150904494 GCNT1 Synonymous SNV L5L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 205564 chr15 31515897 31515897 A C LOC283710 Synonymous SNV T42T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.613 205565 chr1 145704305 145704305 T C CD160 Nonsynonymous SNV T38A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 205566 chr1 146658604 146658604 C T rs143837136 FMO5 Nonsynonymous SNV D493N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 205567 chr9 94172714 94172714 T C NFIL3 Synonymous SNV L101L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.277 205568 chr9 95526958 95526958 G C BICD2 Synonymous SNV R23R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.79 205569 chr15 40866186 40866186 A C rs147853426 RPUSD2 Nonsynonymous SNV E394A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.051 205570 chr9 96214883 96214883 T C rs910511979 FAM120AOS Nonsynonymous SNV R37G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 205571 chr5 60822115 60822115 C T rs116036211 ZSWIM6 Nonsynonymous SNV R577C 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign/Likely benign 28.6 205572 chr9 97690940 97690940 C T rs567355121 LOC101928119 0 0.003 0 0 0 1 0 0 0 0 0 0 5.63 205573 chr18 59774276 59774276 A G rs147306123 PIGN Synonymous SNV Y539Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.721 205574 chr5 68463744 68463744 A T rs747630808 CCNB1 Nonsynonymous SNV I11F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 205575 chr5 68716271 68716271 A G rs727503158 MARVELD2 Nonsynonymous SNV I353M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.221 205576 chr15 42142100 42142100 G A rs55807335 SPTBN5 Nonsynonymous SNV T3660M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.5 205577 chr1 93649035 93649035 A G rs202201009 CCDC18 Synonymous SNV L39L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.89 205578 chr9 103065994 103065994 G A rs376663845 TEX10 Synonymous SNV L850L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.98 205579 chr1 74957847 74957847 G A FPGT-TNNI3K, TNNI3K Nonsynonymous SNV V750M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 205580 chr15 42364091 42364091 G C rs199959919 PLA2G4D Nonsynonymous SNV P485R 0 0 0 1 0 0 0.003 0 0 0 0 0 25 205581 chr9 109686431 109686431 T C rs41277819 ZNF462 Synonymous SNV L80L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.014 205582 chr15 43525880 43525880 T C rs116495228 TGM5 Synonymous SNV L545L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.117 205583 chr18 74091444 74091444 C A rs192324175 ZNF516 Nonsynonymous SNV A876S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.461 205584 chr18 74668129 74668129 G A rs80108417 ZNF236 Synonymous SNV T1701T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.25 205585 chr1 85279781 85279781 G A rs148842899 LPAR3 Synonymous SNV G270G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 205586 chr1 85405253 85405253 T C rs17117841 MCOLN2 Nonsynonymous SNV M365V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.47 205587 chr18 74701992 74701992 C T rs114952201 MBP Nonsynonymous SNV A68T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.004 205588 chr1 85417941 85417941 A G rs769835091 MCOLN2 Synonymous SNV Y244Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 205589 chr1 85634847 85634847 C A rs72952624 SYDE2 Nonsynonymous SNV E911D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 205590 chr1 86435932 86435932 G T rs115569806 COL24A1 Nonsynonymous SNV A114D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 205591 chr18 77659662 77659662 A G KCNG2 Nonsynonymous SNV K416R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 205592 chr15 49509492 49509492 A G rs117291857 GALK2 Nonsynonymous SNV N72S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.6 205593 chr15 56141023 56141023 T C rs774863320 NEDD4 Nonsynonymous SNV N817S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 205594 chr19 1037834 1037834 G A rs760162257 CNN2 Nonsynonymous SNV D250N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.624 205595 chr6 10557414 10557414 C A rs766359774 GCNT2 Nonsynonymous SNV P253H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 12.32 205596 chr9 123313182 123313182 T C CDK5RAP2 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 205597 chr1 94495984 94495984 G A rs747928913 ABCA4 Nonsynonymous SNV P1451L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 205598 chr15 63950849 63950849 C A rs80032429 HERC1 Nonsynonymous SNV A3165S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Likely benign 18.29 205599 chr1 97771852 97771852 T G rs755692084 DPYD Nonsynonymous SNV D687A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 205600 chr20 33433182 33433182 G A rs201814530 GGT7 Synonymous SNV I646I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.31 205601 chr20 34827967 34827967 C T rs200339417 AAR2 Synonymous SNV H59H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.256 205602 chr15 66996178 66996178 G A SMAD6 Synonymous SNV A194A 0 0 0 3 0 0 0.008 0 0 0 0 0 15.03 205603 chr20 13055137 13055137 A G SPTLC3 Nonsynonymous SNV H200R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 205604 chr21 30411447 30411447 C T rs375586235 USP16 Nonsynonymous SNV P277L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 205605 chr15 72122511 72122511 C T MYO9A Nonsynonymous SNV A2327T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 205606 chr21 44275853 44275853 C T rs374861109 WDR4 Nonsynonymous SNV R222H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 205607 chr19 14991974 14991974 T C rs755042030 OR7A17 Nonsynonymous SNV N65S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 21.9 205608 chr21 44324388 44324388 T A rs145166807 NDUFV3 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 205609 chr6 129513953 129513953 G T rs149000261 LAMA2 Synonymous SNV P579P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.949 205610 chr15 74327546 74327560 TCCTCGCCAGCCCAC - rs753529346 PML A547_P551del 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 205611 chr1 171303690 171303690 T C rs1042767 FMO4 Nonsynonymous SNV V323A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.036 205612 chr9 131670837 131670837 T C rs770091691 LRRC8A Nonsynonymous SNV I465T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 205613 chr1 171483718 171483718 G T rs148272649 PRRC2C Nonsynonymous SNV A110S 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 15.21 205614 chr1 171527033 171527033 C G rs141768518 PRRC2C Nonsynonymous SNV P1926A 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 0.074 205615 chr6 134436369 134436369 C T rs191329744 HMGA1P7 0 0 0.003 0 0 0 0 1 0 0 0 0 2.099 205616 chr1 172501856 172501856 T C rs74124228 SUCO Nonsynonymous SNV W82R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.118 205617 chr9 132980207 132980207 C A rs372862177 NCS1 Synonymous SNV T44T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.81 205618 chr6 138703881 138703881 C G rs559488750 SMIM28 Nonsynonymous SNV P119R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 205619 chr6 14118291 14118291 G A CD83 Nonsynonymous SNV V50I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 205620 chr21 40559301 40559301 G A BRWD1 Nonsynonymous SNV T2205I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 205621 chr21 40570868 40570868 G C BRWD1 Nonsynonymous SNV S1825C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 205622 chr1 176833480 176833480 C T rs144824957 ASTN1 Synonymous SNV T1283T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 205623 chr1 176852074 176852074 T G rs151246825 ASTN1 Nonsynonymous SNV M1095L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 205624 chr6 150004348 150004348 C T rs766836005 LATS1 Nonsynonymous SNV R346Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 205625 chr20 4864416 4864416 G A rs143286940 SLC23A2 Synonymous SNV L232L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 11.1 205626 chr19 17932214 17932214 G A rs772318447 INSL3 Synonymous SNV C34C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.01 205627 chr6 152722400 152722400 T A SYNE1 Nonsynonymous SNV D2308V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 205628 chr9 139368663 139368663 C T rs772557482 SEC16A Synonymous SNV P1135P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.825 205629 chr9 139412739 139412739 G A NOTCH1 Synonymous SNV L369L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.294 205630 chr20 60427927 60427927 G A rs759647875 CDH4 Nonsynonymous SNV G247S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 205631 chr6 160999732 160999732 G A rs761418281 LPA Synonymous SNV L1432L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.906 205632 chr19 20228695 20228695 T G ZNF90 Stop gain L111X 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 205633 chr20 60882682 60882682 G C rs150110881 ADRM1 Synonymous SNV P179P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 5.409 205634 chr20 60882862 60882862 C T rs752117898 ADRM1 Synonymous SNV A239A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 205635 chr9 140087024 140087024 - TCC rs397516588 TPRN E621_G622insE 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 205636 chr6 168709557 168709557 C T DACT2 Nonsynonymous SNV E124K 0 0 0.007 0 0 0 0 2 0 0 0 0 25 205637 chr6 168709558 168709558 C G DACT2 Nonsynonymous SNV K123N 0 0 0.007 0 0 0 0 2 0 0 0 0 16.12 205638 chr9 140449768 140449768 C T rs776207779 DPH7 Nonsynonymous SNV D294N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 205639 chr9 140638437 140638437 G A rs768149187 EHMT1 Synonymous SNV E324E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.05 205640 chr22 30200681 30200681 T C rs56135507 ASCC2 Synonymous SNV T255T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.094 205641 chr19 2987898 2987898 C T rs45508491 TLE6 Nonsynonymous SNV P87S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.274 205642 chr10 298401 298401 G A rs140949514 ZMYND11 Synonymous SNV R498R 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Benign 7.782 205643 chr19 3136496 3136496 G C rs751274515 GNA15 Nonsynonymous SNV E16D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.95 205644 chr10 1066773 1066773 A G rs769334862 IDI2 Synonymous SNV D100D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.075 205645 chr10 1405628 1405628 G T ADARB2 Nonsynonymous SNV F224L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 205646 chr19 3281232 3281232 C T CELF5 Synonymous SNV D213D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.27 205647 chr10 3824016 3824016 C T rs61731927 KLF6 Nonsynonymous SNV V165M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.867 205648 chr10 3824278 3824278 G A rs35835052 KLF6 Synonymous SNV S77S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.861 205649 chr6 26428164 26428164 A C rs776956535 BTN2A3P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.265 205650 chr6 26501828 26501828 C T rs41311633 BTN1A1 Synonymous SNV D30D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.45 205651 chr22 23406180 23406180 C T rs141798865 RSPH14 Nonsynonymous SNV E185K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 205652 chr6 28195129 28195129 G A rs201507324 ZSCAN9 Synonymous SNV E89E 0 0 0.007 0 0 0 0 2 0 0 0 0 10.3 205653 chr19 3526168 3526168 A G FZR1 Synonymous SNV S82S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.709 205654 chr1 203689683 203689683 G A rs369539751 ATP2B4 Nonsynonymous SNV A805T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 205655 chr6 3019655 3019655 G A HTATSF1P2 0 0 0.003 0 0 0 0 1 0 0 0 0 3.143 205656 chr1 204409418 204409418 G A rs755979604 PIK3C2B Nonsynonymous SNV T1094M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 205657 chr21 31744191 31744191 G A rs777101437 KRTAP13-2 Nonsynonymous SNV S114L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 205658 chr21 31874330 31874330 A C rs758555976 KRTAP19-5 Nonsynonymous SNV C27G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.385 205659 chr19 36113852 36113852 G A HAUS5 Nonsynonymous SNV R620H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.1 205660 chr16 19078879 19078879 G A LOC102723385 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.726 205661 chr19 3728425 3728425 G A rs773191273 TJP3 Nonsynonymous SNV A8T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.421 205662 chr10 24832087 24832087 C T rs779684103 KIAA1217 Synonymous SNV T1296T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 205663 chr20 61473341 61473341 T C rs758156648 TCFL5 Nonsynonymous SNV M497V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 205664 chr6 42077968 42077968 T C C6orf132 Nonsynonymous SNV D105G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 205665 chr22 42793953 42793953 G A rs372496778 NFAM1 Nonsynonymous SNV A154V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 205666 chr19 38104088 38104088 A - rs772488088 ZNF540 E604Gfs*24 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 205667 chr22 43089715 43089717 GAA - rs387906279 A4GALT F81del 0.001 0 0 0 1 0 0 0 0 0 0 0 205668 chr22 33700397 33700397 G A rs34292743 LARGE1 Synonymous SNV Y516Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.142 205669 chr6 44233438 44233438 G T NFKBIE Synonymous SNV P21P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.844 205670 chr22 36960542 36960542 G T CACNG2 Nonsynonymous SNV D276E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 205671 chr6 44397486 44397486 A C CDC5L Nonsynonymous SNV K644Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 205672 chr21 43892950 43892950 C G RSPH1 Nonsynonymous SNV R265T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.92 205673 chr22 38168711 38168711 G A rs771622633 TRIOBP Nonsynonymous SNV R634H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 34 205674 chr21 45033742 45033742 A T rs771105036 HSF2BP Nonsynonymous SNV L221M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 205675 chr1 220316467 220316467 G A IARS2 Synonymous SNV E914E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 205676 chr21 15893508 15893508 C T rs199748093 SAMSN1 Nonsynonymous SNV R31Q 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 205677 chr6 51612626 51612626 A G rs146519878 PKHD1 Nonsynonymous SNV V3263A 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 205678 chr16 31075191 31075191 C T rs765899998 ZNF668 Nonsynonymous SNV S197N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.96 205679 chr22 50656236 50656236 G A rs138609686 TUBGCP6 Nonsynonymous SNV R1797C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 33 205680 chr19 41235287 41235287 G T rs376093815 ITPKC Nonsynonymous SNV G479V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 205681 chr6 54806294 54806294 T A rs149435201 FAM83B Nonsynonymous SNV I842N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 205682 chr10 52595853 52595853 C T rs61742973 A1CF Synonymous SNV A195A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 13.37 205683 chr21 47769671 47769671 C T rs142413458 PCNT Synonymous SNV H309H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.081 205684 chr21 34399307 34399307 A T OLIG2 Nonsynonymous SNV D46V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 205685 chr21 47776985 47776985 A G rs149623054 PCNT Nonsynonymous SNV K560R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.87 205686 chr10 61994459 61994459 T A rs752563117 ANK3 Nonsynonymous SNV D278V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 205687 chr19 42817603 42817603 C T TMEM145 Synonymous SNV P25P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 205688 chr10 64415276 64415276 A G rs748962642 ZNF365 Synonymous SNV A92A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.941 205689 chr1 228363176 228363176 G T rs150912462 IBA57 Nonsynonymous SNV A345S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 205690 chr2 110332261 110332261 G A rs199690667 SEPTIN10 Nonsynonymous SNV T33I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.549 205691 chr22 46656278 46656278 G A rs117787407 PKDREJ Nonsynonymous SNV T981M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 205692 chr2 113089357 113089357 C T rs373154687 ZC3H6 Synonymous SNV H954H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.923 205693 chr22 46725283 46725283 C A rs768433338 GTSE1 Nonsynonymous SNV P652Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 205694 chr22 47054117 47054117 A G rs769683360 GRAMD4 Nonsynonymous SNV N132S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 205695 chr1 228559008 228559008 C T rs181852000 OBSCN Synonymous SNV T6843T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 205696 chr10 72489891 72489891 C T rs41307534 ADAMTS14 Nonsynonymous SNV R330C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 35 205697 chr16 55362755 55362755 G A rs200849204 IRX6 Nonsynonymous SNV A289T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.658 205698 chr22 23524235 23524235 T G rs760995586 BCR Nonsynonymous SNV F363C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 205699 chr19 44932747 44932747 C T rs199929298 ZNF229 Nonsynonymous SNV E731K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 205700 chr1 233431135 233431135 G - rs754631038 PCNX2 F30Lfs*27 0.002 0.003 0 0 2 1 0 0 0 0 0 0 205701 chr10 74992852 74992852 C G FAM149B1 Nonsynonymous SNV P428R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 205702 chr16 57468017 57468017 G A rs200444496 CIAPIN1 Synonymous SNV N152N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.32 205703 chr16 57550293 57550293 C T rs144924841 CCDC102A Nonsynonymous SNV R444Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 205704 chr1 235618982 235618982 G A rs746993541 B3GALNT2 Nonsynonymous SNV T347M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.84 205705 chr19 45316717 45316717 G A rs542696278 BCAM Synonymous SNV T208T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.59 205706 chr2 129075927 129075927 G A HS6ST1 Nonsynonymous SNV P71S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 205707 chr2 103095414 103095414 A T SLC9A4 Nonsynonymous SNV M125L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.17 205708 chr16 66919633 66919633 T C rs771679872 PDP2 Synonymous SNV N482N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.085 205709 chr16 67228356 67228356 C T rs1016009005 E2F4 Synonymous SNV I169I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.72 205710 chr16 67298418 67298418 G A rs751330671 SLC9A5 Nonsynonymous SNV R568H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 205711 chr1 2408059 2408059 G A rs765045797 PLCH2 Nonsynonymous SNV R11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.011 205712 chr10 86273991 86273991 T C CCSER2 Nonsynonymous SNV Y465H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 205713 chr7 100550879 100550879 T A rs773247197 MUC3A Nonsynonymous SNV F487Y 0 0 0.014 0 0 0 0 4 0 0 0 0 0.389 205714 chr10 89487166 89487166 G A rs766402310 PAPSS2 Nonsynonymous SNV A331T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 205715 chr1 245006348 245006348 A C rs751606534 COX20 Nonsynonymous SNV H31P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 205716 chr10 96602635 96602635 C T rs368758960 CYP2C19 Nonsynonymous SNV R335W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 205717 chr22 20103736 20103736 G A rs189442480 RANBP1, TRMT2A Nonsynonymous SNV R10H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 205718 chr16 71512856 71512856 - T rs768167814 ZNF19 Frameshift insertion T29Nfs*52 0 0 0 1 0 0 0.003 0 0 0 0 0 205719 chr2 125547599 125547599 C T rs200361177 CNTNAP5 Nonsynonymous SNV P958L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 205720 chr22 38121084 38121084 C A TRIOBP Synonymous SNV R841R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 205721 chr7 106508627 106508627 C T rs760897054 PIK3CG Synonymous SNV L207L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.656 205722 chr7 107825003 107825003 T G NRCAM Nonsynonymous SNV Q662H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.986 205723 chr16 80718436 80718436 G A rs778308961 CDYL2 Synonymous SNV L205L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.751 205724 chr2 136519456 136519456 G C rs201063365 UBXN4 Nonsynonymous SNV E193Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21 205725 chr2 171806062 171806062 A G GORASP2 Nonsynonymous SNV D53G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 205726 chr10 104122300 104122300 G A rs376906395 GBF1 Synonymous SNV V585V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 205727 chr7 12409526 12409526 G A rs541613232 VWDE Synonymous SNV T687T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.958 205728 chr16 84203733 84203733 C T rs141074491 DNAAF1 Synonymous SNV D197D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.231 205729 chr7 12684279 12684279 A C rs370619776 SCIN Nonsynonymous SNV E363D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.37 205730 chr7 127238592 127238592 G T rs201193685 FSCN3 Nonsynonymous SNV G355V 0 0 0.003 0 0 0 0 1 0 0 0 0 27 205731 chr10 113914415 113914415 T G GPAM Nonsynonymous SNV N781T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 205732 chr16 84488478 84488478 G A rs199688820 ATP2C2 Nonsynonymous SNV A528T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 26.8 205733 chr7 128633962 128633962 C T rs373971432 TNPO3 Nonsynonymous SNV V389I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 205734 chr2 160204067 160204067 A G rs774740284 BAZ2B Nonsynonymous SNV M1759T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.27 205735 chr16 85022409 85022409 A C rs200342644 ZDHHC7 Nonsynonymous SNV I129S 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 0.012 205736 chr2 183792921 183792921 G C rs961237419 NCKAP1 Nonsynonymous SNV A1035G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 205737 chr22 31342429 31342429 T C rs141387374 MORC2 Nonsynonymous SNV M109V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 205738 chr10 115607087 115607087 G A rs758643055 DCLRE1A Synonymous SNV G711G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 205739 chr22 50211907 50211907 C G BRD1 Nonsynonymous SNV A498P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.988 205740 chr1 3380188 3380188 G A rs868411672 ARHGEF16 Synonymous SNV L180L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.342 205741 chr2 1906994 1906994 C T rs745509992 MYT1L Synonymous SNV P630P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 205742 chr16 88677686 88677686 G A rs772382030 ZC3H18 Nonsynonymous SNV R406Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 205743 chr16 88677710 88677715 AGCGCG - rs549697843 ZC3H18 E422_R423del 0 0 0 1 0 0 0.003 0 0 0 0 0 205744 chr16 88690446 88690446 C T rs747117189 ZC3H18 Nonsynonymous SNV P625L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 205745 chr1 3428591 3428591 C T rs202242273 MEGF6 Nonsynonymous SNV A319T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 205746 chr1 205211139 205211139 C T rs202084099 TMCC2 Synonymous SNV L160L 0.003 0 0 0 3 0 0 0 0 0 0 0 7.507 205747 chr10 124348703 124348703 C T rs202084523 DMBT1 Nonsynonymous SNV S666F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.907 205748 chr10 124377766 124377766 G A rs140113910 DMBT1 Nonsynonymous SNV G952R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 205749 chr10 125804385 125804385 A G rs74962101 CHST15 Synonymous SNV C199C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.277 205750 chr19 54314003 54314003 G A rs141245482 NLRP12 Nonsynonymous SNV H304Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 205751 chr22 39966861 39966861 C T rs372403873 CACNA1I Nonsynonymous SNV P35L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.4 205752 chr7 150094267 150094267 C T rs548808389 ZNF775 Nonsynonymous SNV A233V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.376 205753 chr2 207175683 207175683 G T rs764750291 ZDBF2 Nonsynonymous SNV R2144I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 205754 chr17 10541251 10541251 G A rs140074626 MYH3 Nonsynonymous SNV A1244V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 25.8 205755 chr2 179588185 179588185 G A rs752620885 TTN Synonymous SNV N5970N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.07 205756 chr2 179596828 179596828 C A rs768364912 TTN Nonsynonymous SNV G4379V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 19.43 205757 chr7 151791435 151791435 C T rs138436495 GALNT11 Synonymous SNV P41P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.85 205758 chr1 44604352 44604352 G T rs935808924 KLF18 Nonsynonymous SNV H984Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 205759 chr2 113819812 113819812 C T rs139497891 IL36RN Nonsynonymous SNV P76L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 205760 chr2 216286876 216286876 C T rs756949100 FN1 Nonsynonymous SNV R495K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 205761 chr7 24789330 24789330 C A rs772979763 GSDME Nonsynonymous SNV V22L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 205762 chr2 133175123 133175123 T G rs536856722 GPR39 Nonsynonymous SNV L170V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 205763 chr1 55224316 55224316 G C rs762025468 PARS2 Synonymous SNV S173S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 205764 chr1 55307347 55307347 T G rs147344078 LEXM X415E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 205765 chr2 201534350 201534350 A G AOX1 Nonsynonymous SNV H1284R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.01 205766 chr1 55529205 55529205 C G PCSK9 Nonsynonymous SNV A676G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 205767 chr2 203067309 203067312 AAGT - rs765321431 KIAA2012 0.001 0 0 0 1 0 0 0 0 0 0 0 205768 chr2 204305754 204305754 G T rs766749014 RAPH1 Nonsynonymous SNV T720N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.82 205769 chr7 34085927 34085927 A G BMPER Nonsynonymous SNV T196A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 205770 chr1 64095623 64095623 A G rs141007881 PGM1 Synonymous SNV P158P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.153 205771 chr7 38725588 38725588 T A rs374472663 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 205772 chr2 160243092 160243092 T C rs559391772 BAZ2B Synonymous SNV P1045P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.464 205773 chr2 160604480 160604480 T C rs755025842 MARCHF7 Nonsynonymous SNV S171P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 21.4 205774 chr2 16082204 16082204 G A rs199929021 MYCN Nonsynonymous SNV V98I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.9 205775 chr2 233391303 233391303 C G rs77084550 CHRND Nonsynonymous SNV N39K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.6 205776 chr1 79095441 79095441 T C rs752290909 IFI44L Synonymous SNV Y188Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 205777 chr19 6750048 6750048 C T rs541652162 TRIP10 Nonsynonymous SNV R400W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 205778 chr2 11755263 11755263 G T rs764044844 GREB1 Nonsynonymous SNV V1057L 0.003 0 0 0 3 0 0 0 0 0 0 0 22 205779 chr2 238280960 238280960 C T rs747082651 COL6A3 Nonsynonymous SNV V627M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23 205780 chr2 238881805 238881805 C T rs777438337 UBE2F Nonsynonymous SNV T19M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 205781 chr1 24401902 24401902 G - rs775258931 MYOM3 P922Lfs*37 0.001 0.003 0 0 1 1 0 0 0 0 0 0 205782 chr2 135890496 135890496 C G rs143010678 RAB3GAP1 Nonsynonymous SNV P423R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 10.82 205783 chr7 6565913 6565913 C G GRID2IP Nonsynonymous SNV K287N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 205784 chr19 860982 860982 G C rs751710883 CFD Nonsynonymous SNV D119H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.73 205785 chr2 242035560 242035560 A C MTERF4 Nonsynonymous SNV D145E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.068 205786 chr17 39021137 39021137 G A rs61735165 KRT12 Nonsynonymous SNV T243I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 29.3 205787 chr7 73790326 73790326 C A CLIP2 Nonsynonymous SNV P497Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.175 205788 chr7 87765330 87765330 A G rs768702462 ADAM22 Nonsynonymous SNV I401V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 205789 chr7 91503491 91503491 T C rs201515058 MTERF1 Nonsynonymous SNV N186S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 205790 chr19 9054279 9054279 G C rs190420907 MUC16 Nonsynonymous SNV P10448R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.202 205791 chr7 91794073 91794073 - TTG LRRD1 L148_E149insN 0 0 0.003 0 0 0 0 1 0 0 0 0 205792 chr20 17479669 17479669 T C BFSP1 Nonsynonymous SNV Q126R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 205793 chr7 92119211 92119211 G A PEX1 Synonymous SNV L1094L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 205794 chr19 9058340 9058340 C T rs7260131 MUC16 Nonsynonymous SNV M9702I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.889 205795 chr19 9058351 9058351 G A rs7248079 MUC16 Nonsynonymous SNV H9699Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.224 205796 chr19 9060774 9060774 A G rs61731848 MUC16 Nonsynonymous SNV M8891T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.003 205797 chr19 9061560 9061560 G A rs56807558 MUC16 Nonsynonymous SNV T8629M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 9.493 205798 chr19 9061797 9061797 G A rs56971020 MUC16 Nonsynonymous SNV P8550L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.654 205799 chr2 234702419 234702419 C T MROH2A Synonymous SNV F257F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.643 205800 chr19 9066132 9066132 G A rs73495751 MUC16 Nonsynonymous SNV T7105I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.002 205801 chr19 9067066 9067066 G A rs7252893 MUC16 Nonsynonymous SNV P6794S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 205802 chr7 97821335 97821335 G A rs200885902 LMTK2 Nonsynonymous SNV G520R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.988 205803 chr7 99092097 99092097 G A rs145202325 ZNF394 Synonymous SNV S247S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.866 205804 chr7 99564870 99564870 C T rs143279151 AZGP1 Nonsynonymous SNV G218E 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 14.63 205805 chr17 4082271 4082271 C T rs868322520 ANKFY1 Nonsynonymous SNV D869N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.7 205806 chr11 6292221 6292221 C T rs200060380 CCKBR Synonymous SNV T333T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.019 205807 chr20 25371237 25371237 G A rs749409983 ABHD12 Nonsynonymous SNV R35C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 205808 chr20 2841157 2841157 G A rs144336136 VPS16 Synonymous SNV V144V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.117 205809 chr20 30556414 30556414 G A rs114208013 XKR7 Nonsynonymous SNV G146S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 205810 chr20 3128403 3128403 T C rs3746698 FASTKD5 Synonymous SNV G438G 0.004 0 0.01 0 5 0 0 3 0 0 0 0 0.075 205811 chr8 105503481 105503481 G A rs139489607 LRP12 Nonsynonymous SNV A648V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 205812 chr20 31497684 31497684 A C EFCAB8 Nonsynonymous SNV T502P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.428 205813 chr20 32878605 32878605 C T rs573146559 AHCY Nonsynonymous SNV R233Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 26.4 205814 chr20 33519172 33519172 G A rs764687998 GSS Nonsynonymous SNV R360W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 205815 chr20 33703557 33703557 G A rs936191702 EDEM2, MMP24-AS1-EDEM2 Synonymous SNV I435I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 205816 chr2 179577281 179577281 A G rs879134187 TTN Nonsynonymous SNV I7879T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 17.77 205817 chr1 39463946 39463946 A G rs769483443 AKIRIN1 Synonymous SNV Q108Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.86 205818 chr2 219258852 219258852 G A rs770212453 SLC11A1 Nonsynonymous SNV A442T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 205819 chr8 121211762 121211762 A G rs113817413 COL14A1 Synonymous SNV P278P 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Benign 5.212 205820 chr8 121551200 121551200 G C rs146212838 SNTB1 Nonsynonymous SNV L512V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.7 205821 chr11 9090918 9090918 G A rs765726986 SCUBE2 Synonymous SNV I214I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.48 205822 chr8 124664239 124664239 C T rs16898693 KLHL38 Nonsynonymous SNV G310S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 205823 chr8 125052135 125052135 T C rs374211449 FER1L6 Nonsynonymous SNV F826S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 205824 chr20 37144904 37144904 T C rs753940593 RALGAPB Synonymous SNV N314N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.97 205825 chr2 26950618 26950618 G A KCNK3 Nonsynonymous SNV V123I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 205826 chr8 131127939 131127939 C T rs754279639 ASAP1 Nonsynonymous SNV V703I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 205827 chr20 42208665 42208665 C T rs145973289 SGK2 Synonymous SNV Y361Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.87 205828 chr20 43837078 43837078 G A rs2233888 SEMG1 Synonymous SNV K380K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.085 205829 chr2 3469443 3469443 G A rs780411941 TRAPPC12 Nonsynonymous SNV G585S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 205830 chr20 45771708 45771708 C T rs111303908 EYA2 Nonsynonymous SNV T300M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 205831 chr2 36706682 36706682 A G rs139895660 CRIM1 Nonsynonymous SNV N406S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 205832 chr2 74594230 74594230 G A rs143763184 DCTN1 Nonsynonymous SNV T619M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 23.8 205833 chr20 48260179 48260179 T C rs200335651 B4GALT5 Nonsynonymous SNV I125V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 205834 chr2 84896562 84896562 T C DNAH6 Synonymous SNV Y2078Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.138 205835 chr8 144943653 144943653 C G rs370136591 EPPK1 Nonsynonymous SNV G1257R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 205836 chr8 144998870 144998870 C T rs781946435 PLEC Nonsynonymous SNV A1729T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.17 205837 chr2 46739683 46739683 A G rs17035245 ATP6V1E2 Synonymous SNV Y56Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.881 205838 chr2 48026006 48026006 A G rs267608051 MSH6 Nonsynonymous SNV K165R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 205839 chr19 1912102 1912102 C T rs752745048 ADAT3 Nonsynonymous SNV P3L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.26 205840 chr1 146714441 146714441 C T rs782676436 CHD1L Nonsynonymous SNV R30W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 205841 chr2 48066078 48066078 A G FBXO11 Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.734 205842 chr8 145700255 145700255 C T rs757207500 FOXH1 Nonsynonymous SNV R155Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.358 205843 chr11 46393099 46393099 C T rs145167399 DGKZ Synonymous SNV V212V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.4 205844 chr11 46393120 46393120 G A rs764509879 DGKZ Synonymous SNV P219P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 205845 chr2 54587433 54587433 C A rs367682847 C2orf73 Nonsynonymous SNV R79S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 205846 chr2 55143985 55143985 A G rs147991582 EML6 Synonymous SNV V1196V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.536 205847 chr2 207008851 207008851 G A NDUFS1 Nonsynonymous SNV A182V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 205848 chr2 64211078 64211078 A G rs139389895 VPS54 Nonsynonymous SNV F19S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 205849 chr2 65300072 65300074 AGG - rs140943605 CEP68 G616del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 205850 chr2 69040469 69040469 A T ARHGAP25 Nonsynonymous SNV D235V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 205851 chr3 112991514 112991514 G A rs3814400 BOC Nonsynonymous SNV G309R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 205852 chr8 22019365 22019365 C G rs144603526 SFTPC Synonymous SNV V8V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.6 205853 chr1 155161060 155161060 T C rs935608218 MUC1 Nonsynonymous SNV H367R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 205854 chr8 22863485 22863485 G A rs764759967 RHOBTB2 Synonymous SNV V110V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.242 205855 chr8 23104471 23104471 C A CHMP7 Nonsynonymous SNV P88Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 205856 chr20 62591256 62591256 C T rs201088157 ZNF512B Synonymous SNV K888K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.782 205857 chr2 74901705 74901705 G A rs149579506 SEMA4F Synonymous SNV E146E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.192 205858 chr17 72926963 72926963 C T rs757855495 OTOP2 Synonymous SNV I411I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.826 205859 chr8 27886877 27886877 T G NUGGC Nonsynonymous SNV K687T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 205860 chr17 73497690 73497690 C T rs372402120 CASKIN2 Nonsynonymous SNV R1044H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 205861 chr21 22804546 22804546 T G NCAM2 Nonsynonymous SNV D391E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.147 205862 chr1 157491077 157491077 C T FCRL5 Nonsynonymous SNV V749M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 205863 chr11 55595147 55595147 T C rs768317258 OR5L2 Synonymous SNV C151C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 205864 chr8 37593647 37593647 G A rs181199223 LOC102723701 0 0 0.003 0 0 0 0 1 0 0 0 0 0.514 205865 chr1 159035799 159035799 C T rs142558736 AIM2 Synonymous SNV P134P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.694 205866 chr1 160681531 160681531 G T rs34237772 CD48 Stop gain S8X 0 0 0 1 0 0 0.003 0 0 0 0 0 33 205867 chr8 53555056 53555056 C T RB1CC1 Nonsynonymous SNV V1398I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 205868 chr2 46609211 46609211 G A rs1031815142 EPAS1 Nonsynonymous SNV S757N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.288 205869 chr17 74721796 74721796 T C JMJD6 Nonsynonymous SNV K91E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.706 205870 chr21 36080276 36080276 A G rs139243173 CLIC6 Nonsynonymous SNV T507A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.95 205871 chr21 38520924 38520924 A G TTC3 Nonsynonymous SNV T389A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.72 205872 chr21 38600084 38600084 C T rs377692428 VPS26C Nonsynonymous SNV D103N 0.004 0 0 0 5 0 0 0 0 0 0 0 35 205873 chr2 55277340 55277340 C T rs768902689 RTN4 Nonsynonymous SNV D33N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 205874 chr3 133356838 133356838 T C rs199856682 TOPBP1 Nonsynonymous SNV Q796R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.007 205875 chr1 167829119 167829119 G A rs749325871 ADCY10 Nonsynonymous SNV R455W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 205876 chr17 77044087 77044087 C A rs117861016 C1QTNF1 Nonsynonymous SNV R173S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 205877 chr2 233350659 233350659 C A ECEL1 Synonymous SNV A235A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 205878 chr17 77111709 77111709 G A rs747394355 RBFOX3 Nonsynonymous SNV T30M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 205879 chr21 43362323 43362323 G A rs927189086 C2CD2 Nonsynonymous SNV P104L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 205880 chr11 57070125 57070125 C T rs138666146 TNKS1BP1 Synonymous SNV L1497L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.591 205881 chr3 143691372 143691372 C T rs146742339 DIPK2A Synonymous SNV R66R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 205882 chr17 79095014 79095014 - GTCCAGGGA rs767272422 AATK D804_I805insSLD 0 0 0.003 1 0 0 0.003 1 0 0 0 0 205883 chr1 173703206 173703206 G A rs147116898 KLHL20 Synonymous SNV A126A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.43 205884 chr1 173772298 173772298 T C rs139873333 CENPL Nonsynonymous SNV I256V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.725 205885 chr1 173795885 173795885 G A rs114714497 DARS2 Nonsynonymous SNV G63D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 205886 chr1 173933259 173933259 C T rs148712447 RC3H1 Synonymous SNV G561G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.83 205887 chr21 45544508 45544508 C T LOC102724159, PWP2 Nonsynonymous SNV A622V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 205888 chr1 175046557 175046557 G T rs143192203 TNN Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 205889 chr11 58607048 58607048 A G rs140644520 GLYATL2 Nonsynonymous SNV L13P 0 0.003 0 0 0 1 0 0 0 0 0 0 24 205890 chr11 58715343 58715343 G C rs762138680 GLYATL1 Nonsynonymous SNV V31L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.651 205891 chr1 175087846 175087846 G A rs146688442 TNN Nonsynonymous SNV E846K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 205892 chr11 59620743 59620743 G A rs760123783 TCN1 Synonymous SNV G391G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.399 205893 chr3 122642590 122642590 G C rs2276778 SEMA5B Nonsynonymous SNV I324M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 205894 chr2 84936514 84936514 C A DNAH6 Synonymous SNV I3032I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 205895 chr21 46911170 46911170 C T rs370141116 COL18A1 Nonsynonymous SNV P880L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 205896 chr9 111625149 111625149 T C rs41278345 ACTL7A Nonsynonymous SNV Y183H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 205897 chr3 124393381 124393381 C T KALRN Synonymous SNV A642A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 205898 chr21 47818002 47818002 C A PCNT Synonymous SNV R1389R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 205899 chr9 113459667 113459667 A G rs369254308 MUSK Synonymous SNV E183E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.492 205900 chr22 17583106 17583106 G C rs144085995 IL17RA Nonsynonymous SNV E226Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 205901 chr9 115932052 115932052 G A FKBP15 Synonymous SNV S979S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.812 205902 chr11 62871723 62871723 T C rs562838733 SLC22A24 Nonsynonymous SNV D293G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 205903 chr1 186276241 186276241 - CCAAGGAGCCTGCACCCACCA rs781216251 PRG4 T344_P345insKEPAPTT 0 0 0 1 0 0 0.003 0 0 0 0 0 205904 chr18 12095510 12095510 G A rs78563787 ANKRD62 Nonsynonymous SNV M136I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.051 205905 chr22 19808177 19808177 G A rs184782658 GNB1L Synonymous SNV H66H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 205906 chr22 21342351 21342351 C T rs142421078 LZTR1 Synonymous SNV D151D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 14.19 205907 chr11 64670130 64670130 C T rs148478613 ATG2A Nonsynonymous SNV R1204H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 205908 chr9 128064662 128064662 C T rs985883208 GAPVD1 Nonsynonymous SNV L196F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.8 205909 chr3 14200250 14200250 C T rs533121927 XPC Nonsynonymous SNV R185K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.487 205910 chr11 65650594 65650594 A C rs761085585 CTSW Nonsynonymous SNV K267T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 205911 chr9 130492981 130492981 C T rs200222599 TTC16 Nonsynonymous SNV A627V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.454 205912 chr11 66062570 66062570 G T TMEM151A Nonsynonymous SNV A285S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 205913 chr2 37429939 37429939 T C rs757074596 CEBPZ Nonsynonymous SNV K1005E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 205914 chr11 66331472 66331472 A G CTSF Nonsynonymous SNV Y463H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 205915 chr3 119533869 119533869 G A rs779833449 NR1I2 Nonsynonymous SNV A280T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.609 205916 chr3 14967620 14967620 G T rs757694835 FGD5 Nonsynonymous SNV S1371I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 205917 chr22 30776059 30776059 - G RNF215 Frameshift insertion N334Qfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 205918 chr2 45826959 45826959 T C rs143793732 SRBD1 Nonsynonymous SNV I93V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 205919 chr3 154146926 154146926 G A rs766157306 GPR149 Nonsynonymous SNV A160V 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 7.828 205920 chr1 205631115 205631115 G A rs557022570 SLC45A3 Synonymous SNV A366A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 205921 chr9 132630459 132630459 G A rs975810825 USP20 Nonsynonymous SNV S289N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 205922 chr3 15711935 15711935 G A rs1031954748 ANKRD28 Nonsynonymous SNV R848C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 205923 chr20 49307663 49307663 C G RIPOR3 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 205924 chr3 164710121 164710121 C T SI Nonsynonymous SNV V1636I 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 15.77 205925 chr9 134471725 134471725 C T rs35658906 RAPGEF1 Synonymous SNV G714G 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 17.63 205926 chr9 135202552 135202552 G T rs143661911 SETX Nonsynonymous SNV A1478E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Uncertain significance 3.945 205927 chr2 67637129 67637129 C A rs368100435 ETAA1 Synonymous SNV R914R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 205928 chr3 169572694 169572694 C T rs41273581 LRRC31 Nonsynonymous SNV E244K 0.002 0.003 0.007 1 2 1 0.003 2 0 0 1 0 12.18 205929 chr11 75141585 75141585 G A rs80205745 KLHL35 Synonymous SNV A30A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 205930 chr2 73449012 73449012 A G rs200903595 SMYD5 Nonsynonymous SNV N199S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 205931 chr3 183643372 183643372 C T ABCC5 Nonsynonymous SNV D923N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 205932 chr22 41865166 41865166 C T rs769265073 ACO2 Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 205933 chr22 43459855 43459855 G A rs2272869 TTLL1 Synonymous SNV F237F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.19 205934 chr3 42700087 42700087 G A rs910299326 ZBTB47 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.556 205935 chr9 140247161 140247161 G A rs186449338 EXD3 Synonymous SNV A316A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.244 205936 chr18 9254601 9254601 A G ANKRD12 Nonsynonymous SNV I423V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 205937 chr22 47311603 47311603 C G rs116082063 TBC1D22A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.495 205938 chr19 10394264 10394264 A C ICAM1 Nonsynonymous SNV T147P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.085 205939 chr2 98428955 98428955 T C rs747494339 TMEM131 Nonsynonymous SNV R598G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 205940 chr11 103908506 103908506 C T DDI1 Nonsynonymous SNV S319F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 205941 chr21 18976576 18976576 T C BTG3 Synonymous SNV P110P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.138 205942 chr9 35062271 35062271 A G rs921092914 VCP Synonymous SNV N251N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 4.856 205943 chr9 35700005 35700005 T C rs368513332 TLN1 Nonsynonymous SNV N2245S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.81 205944 chr2 100055203 100055203 A G rs760568236 REV1 Nonsynonymous SNV L358P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 205945 chr21 31655108 31655108 G A rs201007859 KRTAP24-1 Nonsynonymous SNV P48L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 205946 chr9 37801223 37801223 C T rs370374517 DCAF10 Synonymous SNV G120G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.97 205947 chr21 31802880 31802880 G A rs144285049 KRTAP13-4 Nonsynonymous SNV G96D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.06 205948 chr11 113105781 113105781 G A rs201325353 NCAM1 Nonsynonymous SNV V564M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.5 205949 chr3 51743023 51743023 G A rs779640049 GRM2 Synonymous SNV L8L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.653 205950 chr3 19977827 19977827 C T rs115227010 EFHB 0.002 0 0 0 2 0 0 0 0 0 0 0 2.452 205951 chr3 20153106 20153106 C T rs9859493 KAT2B Synonymous SNV N290N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.82 205952 chr1 233430237 233430237 T C rs189752128 PCNX2 Nonsynonymous SNV M56V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.888 205953 chr3 52325811 52325811 A G rs747941622 GLYCTK Nonsynonymous SNV E193G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.5 205954 chr11 113614567 113614567 C T rs375534081 ZW10 Nonsynonymous SNV A490T 0 0.003 0 0 0 1 0 0 0 0 0 0 35 205955 chr3 52382930 52382930 C T rs374015766 DNAH1 Synonymous SNV S711S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 19.5 205956 chr3 27758726 27758726 A G rs370255264 EOMES Synonymous SNV D651D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 205957 chr3 52475916 52475916 G A rs766849151 SEMA3G Nonsynonymous SNV H157Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.007 205958 chr9 74300311 74300311 - AA rs36080695 CEMIP2 0 0 0.02 0 0 0 0 6 0 0 0 0 205959 chr19 14000292 14000292 G A rs777317871 C19orf57 Synonymous SNV A341A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.628 205960 chr3 119456323 119456323 G A rs145872461 MAATS1 Synonymous SNV T359T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.133 205961 chr3 36778899 36778899 G A rs539549840 DCLK3 Nonsynonymous SNV H418Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 205962 chr19 14508923 14508923 A G ADGRE5 Nonsynonymous SNV K197R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.362 205963 chr2 112940408 112940408 C G rs753408985 FBLN7 Synonymous SNV P191P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 205964 chr3 183493746 183493746 - GGAGGA YEATS2 G814_S815insGG 0 0.003 0 0 0 1 0 0 0 0 0 0 205965 chr3 121251868 121251868 A C rs55748151 POLQ Nonsynonymous SNV V310G 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 26 205966 chr1 24192072 24192072 A G rs150062050 FUCA1 Nonsynonymous SNV W145R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 28.4 205967 chr9 86909146 86909146 C T SLC28A3 Synonymous SNV L302L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.96 205968 chr9 88916274 88916274 T C rs61749485 TUT7 Nonsynonymous SNV K1210R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.289 205969 chr21 43531739 43531739 C G UMODL1 Nonsynonymous SNV R731G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.528 205970 chr11 122774726 122774726 G A rs34965587 JHY Synonymous SNV A146A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.75 205971 chr3 88040226 88040226 C T rs150481200 HTR1F Synonymous SNV C109C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.547 205972 chr3 124826342 124826342 G A rs577293115 SLC12A8 Nonsynonymous SNV S563L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.785 205973 chr3 43474153 43474153 T C rs141806947 ANO10 Nonsynonymous SNV M511V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.002 205974 chr1 245530583 245530583 A C rs114860672 KIF26B Nonsynonymous SNV N305H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.6 205975 chr19 16045185 16045185 C T rs199657164 CYP4F11 Nonsynonymous SNV G12R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.13 205976 chr19 1619323 1619323 C T rs761667569 TCF3 Nonsynonymous SNV A440T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.888 205977 chr3 44841827 44841827 C G KIF15 Nonsynonymous SNV Q374E 0.001 0 0 0 1 0 0 0 0 0 0 0 27 205978 chr3 97888416 97888416 T C rs143179731 OR5H15 Synonymous SNV S291S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 205979 chrX 100746034 100746034 G T ARMCX4 Nonsynonymous SNV A820S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.062 205980 chrX 102529251 102529251 C G rs777506781 TCEAL5 Nonsynonymous SNV E81Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.151 205981 chr11 124496402 124496402 C T rs184292389 TBRG1 Nonsynonymous SNV A163V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 205982 chr21 46603379 46603379 C G ADARB1 Synonymous SNV P499P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.66 205983 chr11 124743641 124743641 C T rs745766681 ROBO3 Nonsynonymous SNV P556L 0 0.003 0 0 0 1 0 0 0 0 0 0 22 205984 chrX 106846289 106846289 G A rs754925641 FRMPD3 Nonsynonymous SNV V1707M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 205985 chr11 124749773 124749773 G A rs200474790 ROBO3 Nonsynonymous SNV R345Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 205986 chr19 17330172 17330172 G C rs78670441 USE1 Nonsynonymous SNV Q191H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.37 205987 chr3 46725291 46725291 G A rs141781567 ALS2CL Nonsynonymous SNV A298V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 20.7 205988 chr3 20026915 20026915 A G rs199571653 PP2D1 Nonsynonymous SNV M617T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.08 205989 chr1 248343518 248343518 C T rs375347393 OR2M2 Synonymous SNV T77T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.649 205990 chr2 15415920 15415920 T C NBAS Synonymous SNV T1804T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.88 205991 chrX 135313977 135313977 A C MAP7D3 Nonsynonymous SNV V345G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.018 205992 chr1 248844933 248844933 T C OR14I1 Nonsynonymous SNV R225G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.92 205993 chr1 249144644 249144644 G A rs539285131 ZNF692 Nonsynonymous SNV T397M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.9 205994 chr1 2524107 2524107 C T rs146100312 MMEL1 Nonsynonymous SNV R685Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 205995 chrX 149814302 149814302 C T MTM1 Synonymous SNV T275T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 205996 chr12 1036390 1036390 C T rs201623936 RAD52 Nonsynonymous SNV E53K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 205997 chr3 51738026 51738026 G A TEX264 Synonymous SNV K238K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 205998 chr1 26670548 26670548 C T CRYBG2 Synonymous SNV Q867Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.323 205999 chr19 21607504 21607504 A T rs770766525 ZNF493 Nonsynonymous SNV E553D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 206000 chr19 21607505 21607505 G A rs776544366 ZNF493 Nonsynonymous SNV E554K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 206001 chr3 56649170 56649174 CAAGA - rs779725313 CCDC66 Stop gain T496* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 206002 chr3 56651368 56651368 C T rs537053776 CCDC66 Nonsynonymous SNV T658I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.225 206003 chr1 32655672 32655672 G A rs771671105 TXLNA Nonsynonymous SNV R262Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 206004 chr19 30313354 30313354 G T rs571054191 CCNE1 Synonymous SNV G273G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.863 206005 chrX 46360743 46360743 - C rs768124209 ZNF674 Frameshift insertion D94Gfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 206006 chr2 179442554 179442554 A G rs368484355 TTN Nonsynonymous SNV Y13802H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.34 206007 chr3 180705882 180705882 G A rs750384728 DNAJC19 Nonsynonymous SNV R20C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 206008 chr3 182923944 182923944 G T MCF2L2 Nonsynonymous SNV A924D 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 206009 chrX 70837094 70837094 G A rs374595572 CXCR3 Synonymous SNV A123A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.87 206010 chr3 47163784 47163784 G A SETD2 Nonsynonymous SNV T737M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.843 206011 chr2 182350641 182350641 G A rs35419274 ITGA4 Nonsynonymous SNV V359I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 206012 chr19 3611886 3611886 C T rs193234359 CACTIN-AS1 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.643 206013 chr3 48413797 48413797 T C FBXW12 Nonsynonymous SNV I7T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.599 206014 chr3 9985604 9985604 C T CRELD1 Nonsynonymous SNV T360I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 206015 chr3 186383882 186383882 C T rs141595547 HRG Nonsynonymous SNV P21L 0.003 0 0 0 3 0 0 0 0 0 0 0 26 206016 chr22 37603052 37603052 G A rs139412786 SSTR3 Nonsynonymous SNV A264V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.6 206017 chr4 103517326 103517326 T C rs139489039 NFKB1 Synonymous SNV P443P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 0.319 206018 chr19 36500384 36500384 G A ALKBH6 Synonymous SNV P203P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 206019 chr3 52398930 52398930 G A rs369877873 DNAH1 Nonsynonymous SNV V1805M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 206020 chr10 105965724 105965724 T G rs555490433 CFAP43 Synonymous SNV G320G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.32 206021 chr10 106074532 106074532 G A rs141019864 ITPRIP Synonymous SNV S426S 0 0 0.01 0 0 0 0 3 0 0 0 0 10.58 206022 chr10 112269840 112269840 C T rs747887661 DUSP5 Nonsynonymous SNV P271S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 206023 chr10 112696562 112696562 C T rs541192777 RPL13AP6 0 0 0.007 0 0 0 0 2 0 0 0 0 7.923 206024 chr22 43600126 43600126 G A rs140846155 SCUBE1 Synonymous SNV D948D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.51 206025 chr2 201800525 201800525 G A rs778964822 ORC2 Nonsynonymous SNV T202I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 206026 chr3 56716899 56716899 - GCC rs997688677 TASOR G45_L46insG 0 0.003 0 0 0 1 0 0 0 0 0 0 206027 chr12 46322242 46322242 G C SCAF11 Nonsynonymous SNV D414E 0 0.005 0 0 0 2 0 0 0 0 0 0 24 206028 chr1 55074777 55074777 A C rs200141925 ACOT11 Nonsynonymous SNV T593P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.59 206029 chr19 38383284 38383284 A G WDR87 Nonsynonymous SNV I1020T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 206030 chr10 121602087 121602087 C T MCMBP Nonsynonymous SNV E341K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 206031 chr2 204281682 204281682 A G rs749688383 ABI2 Nonsynonymous SNV E303G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 206032 chr10 124214436 124214436 A G rs771958062 ARMS2 Nonsynonymous SNV M65V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 206033 chr4 129793127 129793127 A C rs752202742 JADE1 Nonsynonymous SNV N735H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 206034 chr3 78766993 78766993 C G rs372784930 ROBO1 Nonsynonymous SNV S194T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 206035 chr3 38416717 38416717 C T rs766980634 XYLB Nonsynonymous SNV P187L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 206036 chr12 52284703 52284703 C T ANKRD33 Nonsynonymous SNV H131Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 206037 chr12 52408879 52408879 G A rs200789033 GRASP Nonsynonymous SNV G219S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 18.53 206038 chr19 41063168 41063168 C T SPTBN4 Synonymous SNV A519A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.66 206039 chr1 6592630 6592630 A G rs17029612 NOL9 Synonymous SNV D476D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.394 206040 chr4 47939441 47939441 G A rs183197573 CNGA1 Nonsynonymous SNV T426I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.1 206041 chr10 135084006 135084007 AT - rs375995290 ADAM8 M509Vfs*35 0.002 0 0.003 0 2 0 0 1 0 0 0 0 206042 chr10 135084732 135084732 G A rs147448426 ADAM8 Nonsynonymous SNV A410V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 206043 chr2 219676948 219676948 A G rs749515902 CYP27A1 Synonymous SNV E150E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.818 206044 chr2 220098451 220098451 G A rs201065897 ANKZF1 Synonymous SNV L68L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.749 206045 chr4 1657290 1657290 T C rs945649937 FAM53A Synonymous SNV A99A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.176 206046 chr4 166300676 166300676 G A rs767657594 CPE Synonymous SNV E101E 0.004 0.005 0 2 5 2 0.005 0 0 0 0 0 12.61 206047 chr3 48682503 48682503 T C rs138324713 CELSR3 Nonsynonymous SNV H2646R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 206048 chr1 87025688 87025688 T G CLCA4 Nonsynonymous SNV I78R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 206049 chr12 56607816 56607816 T C rs150381609 RNF41 Nonsynonymous SNV T6A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.085 206050 chr2 227895218 227895218 G A rs746621296 COL4A4 Nonsynonymous SNV P1305L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.735 206051 chr12 57849416 57849416 A T INHBE Stop gain K33X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 206052 chr12 57865430 57865430 A G rs754449613 GLI1 Synonymous SNV P841P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.926 206053 chr4 122853750 122853750 G A rs144728749 TRPC3 Synonymous SNV Y148Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.163 206054 chr12 62930945 62930945 G T MON2 Nonsynonymous SNV G639C 0 0.003 0 0 0 1 0 0 0 0 0 0 26 206055 chr4 142143607 142143607 A G rs35353789 ZNF330 Nonsynonymous SNV T28A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.982 206056 chr12 71139639 71139639 G A rs149482714 PTPRR Synonymous SNV C77C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.545 206057 chr3 57131871 57131871 G C rs775991238 IL17RD Nonsynonymous SNV H620Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 206058 chr4 37828425 37828425 G T PGM2 Nonsynonymous SNV R24L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.6 206059 chr4 38047497 38047497 G C TBC1D1 Synonymous SNV L534L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.868 206060 chr2 238461050 238461050 G A rs755092225 MLPH Synonymous SNV A462A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 206061 chr10 70726781 70726781 C T rs374055695 DDX21 Synonymous SNV R236R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.22 206062 chr12 96288812 96288812 C T rs201941109 CCDC38 Nonsynonymous SNV A243T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.039 206063 chr4 48485992 48485992 C A SLC10A4 Synonymous SNV G138G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 206064 chr10 74890655 74890655 T C NUDT13 Synonymous SNV P262P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.139 206065 chr5 10638221 10638221 C T ANKRD33B Nonsynonymous SNV A193V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 206066 chr2 27669137 27669137 A G rs61742074 IFT172 Nonsynonymous SNV I1582T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.423 206067 chr4 187539679 187539679 A T rs372604440 FAT1 Synonymous SNV V2687V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 206068 chr4 68964683 68964683 G A rs140054355 TMPRSS11F Nonsynonymous SNV R29W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 206069 chr2 29140827 29140827 A G rs769935378 WDR43 Nonsynonymous SNV Y272C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 206070 chr2 29274749 29274749 C T rs371601964 TOGARAM2 Synonymous SNV R759R 0.002 0 0.01 0 2 0 0 3 0 0 0 0 11.9 206071 chr2 179410404 179410404 G A rs780805481 TTN Synonymous SNV P22746P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.26 206072 chr2 32640792 32640792 A G rs771969592 BIRC6 Synonymous SNV L811L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.235 206073 chr12 120884325 120884325 G C rs368556877 GATC Synonymous SNV L14L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.365 206074 chr12 120966751 120966751 C T rs372890461 COQ5 Nonsynonymous SNV G65E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.196 206075 chr4 3101010 3101010 A G rs371965675 HTT Synonymous SNV P119P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.475 206076 chr2 37458679 37458679 T G rs764337884 CEBPZ Nonsynonymous SNV H11P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 206077 chr10 99498313 99498313 C G rs34979921 ZFYVE27 Nonsynonymous SNV P27A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 23.2 206078 chr10 99527573 99527573 G A rs35379499 SFRP5 Nonsynonymous SNV R218W 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 33 206079 chr4 128751794 128751794 A G HSPA4L Nonsynonymous SNV D682G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.1 206080 chr20 42682966 42682966 G A rs149594311 TOX2 Nonsynonymous SNV D185N 0 0 0 2 0 0 0.005 0 0 0 0 0 32 206081 chr4 140811064 140811072 TGCTGCTGC - rs750290659 MAML3 Q508_Q510del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 206082 chr12 124862917 124862917 T G NCOR2 Nonsynonymous SNV N677T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 206083 chr12 124950806 124950806 C T rs376189107 NCOR2 Synonymous SNV K206K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.77 206084 chr5 140306959 140306959 A G PCDHAC1 Nonsynonymous SNV Y161C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 206085 chr4 147560466 147560466 - GGCGGC POU4F2 G68_R69insGG 0.002 0 0 0 2 0 0 0 0 0 0 0 206086 chr19 54652382 54652382 C T rs202244707 CNOT3 Nonsynonymous SNV P437L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 206087 chr4 46053576 46053576 C T rs143206194 GABRG1 Synonymous SNV A332A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.06 206088 chr12 126138535 126138535 G A rs773624804 TMEM132B Nonsynonymous SNV G351D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.109 206089 chr5 141024648 141024648 G A rs370399564 FCHSD1 Nonsynonymous SNV A460V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 206090 chr11 1018348 1018348 G C MUC6 Nonsynonymous SNV P1485A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.005 206091 chr12 133683020 133683020 C T rs2229373 ZNF140 Nonsynonymous SNV A283V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 206092 chr12 133697688 133697688 C T ZNF891 Nonsynonymous SNV G273R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.65 206093 chr5 149437098 149437098 G A rs759826953 CSF1R Synonymous SNV S730S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.902 206094 chr11 108277861 108277861 C T rs140573247 C11orf65 Nonsynonymous SNV A33T 0.004 0.005 0.007 2 5 2 0.005 2 0 0 0 0 28.7 206095 chr11 111228293 111228293 A G rs150634025 POU2AF1 Synonymous SNV H111H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.432 206096 chr2 74454961 74454961 G A rs180817000 SLC4A5 Synonymous SNV G964G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.85 206097 chr11 111745983 111745983 C T rs191172184 FDXACB1 Nonsynonymous SNV R513H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 206098 chr5 110081995 110081995 A G rs754427464 SLC25A46 Nonsynonymous SNV H137R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 206099 chr4 71346700 71346700 - C rs34918942 MUC7 Frameshift insertion K83Qfs*10 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 206100 chr19 56599842 56599842 G A ZNF787 Synonymous SNV I233I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.673 206101 chr13 32885787 32885787 G T ZAR1L Synonymous SNV G92G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 206102 chr4 77317564 77317564 G A rs745598725 CCDC158 Nonsynonymous SNV T49I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 206103 chr2 216273036 216273036 T C rs199957523 FN1 Nonsynonymous SNV T805A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 206104 chr5 121780344 121780344 C T rs752977644 SNCAIP Synonymous SNV T99T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 206105 chr4 187455634 187455634 T C rs150665275 MTNR1A Nonsynonymous SNV I88V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 206106 chr4 187516889 187516889 T A FAT1 Nonsynonymous SNV E4364D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 206107 chr5 127595479 127595479 C T rs759451244 FBN2 Nonsynonymous SNV V2803I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 206108 chr2 97019936 97019936 G A rs536560583 NCAPH Nonsynonymous SNV V204I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 206109 chr4 187628408 187628408 C T rs376884651 FAT1 Synonymous SNV T858T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.936 206110 chr11 119058126 119058126 A G rs148981432 PDZD3 Nonsynonymous SNV I160V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.341 206111 chr11 119059106 119059117 AGGCTGGGATGC - rs777441593 PDZD3 M305_G308del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 206112 chr5 169111337 169111337 C T DOCK2 Synonymous SNV N248N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.15 206113 chr13 52440136 52440136 G A rs78877659 CCDC70 Nonsynonymous SNV G197R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.544 206114 chr11 121000806 121000806 C A rs139158022 TECTA Nonsynonymous SNV L943M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 15.89 206115 chr13 52667319 52667319 T C rs557041954 NEK5 Nonsynonymous SNV Y360C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 206116 chr11 121491836 121491836 C T rs756155366 SORL1 Nonsynonymous SNV R1985C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 206117 chr19 5925726 5925726 T C rs200546649 RANBP3 Nonsynonymous SNV E206G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.424 206118 chr13 67801570 67801570 C T PCDH9 Nonsynonymous SNV G335S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 206119 chr19 617837 617837 G A rs75913143 POLRMT Synonymous SNV T1145T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.599 206120 chr4 87655513 87655513 G A rs202038172 PTPN13 Nonsynonymous SNV G639E 0 0.003 0 0 0 1 0 0 0 0 0 0 30 206121 chr4 88583510 88583510 G A DMP1 Nonsynonymous SNV V178M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.47 206122 chr21 30698953 30698953 T G rs61735774 BACH1 Nonsynonymous SNV C270G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.187 206123 chr5 177562310 177562310 C T rs554662618 RMND5B Nonsynonymous SNV P33S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.285 206124 chr13 100637823 100637846 GGCGGGGGCGGCGGCGGGGCGGGC - rs973238177 ZIC2 G501_G508del 0 0.003 0 0 0 1 0 0 0 0 0 0 206125 chr2 227917122 227917122 A G COL4A4 Nonsynonymous SNV I956T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 206126 chr21 33747748 33747748 T G rs750583629 URB1 Nonsynonymous SNV I237L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 206127 chr13 103390948 103390948 T C rs749634328 CCDC168 Synonymous SNV L4033L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.593 206128 chr5 102611955 102611955 G T rs782234401 C5orf30 Nonsynonymous SNV R112M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 206129 chr5 140346622 140346622 G C PCDHAC2 Nonsynonymous SNV E91Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 206130 chr5 1073758 1073758 C G SLC12A7 Nonsynonymous SNV R744P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.92 206131 chr21 38564455 38564455 C T rs754677953 TTC3 Nonsynonymous SNV R998W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 206132 chr11 128709341 128709341 G T rs139777470 KCNJ1 Synonymous SNV T285T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.616 206133 chr11 13031349 13031349 G T rs373322400 RASSF10 Nonsynonymous SNV D76Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 206134 chr5 147019249 147019249 A G rs139396188 JAKMIP2 Synonymous SNV Y450Y 0.001 0 0.01 0 1 0 0 3 0 0 0 0 1.885 206135 chr11 17484991 17484991 C T ABCC8 Synonymous SNV R191R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 206136 chr3 124630983 124630983 G A rs138278063 MUC13 Nonsynonymous SNV A406V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 206137 chr11 18731027 18731027 G C rs746347899 IGSF22 Nonsynonymous SNV Q969E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.943 206138 chr5 148712312 148712312 G A rs369805051 AFAP1L1 Nonsynonymous SNV R644Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 206139 chr11 1887763 1887763 C G rs7929248 LSP1 Nonsynonymous SNV P20R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.632 206140 chr5 43492393 43492393 A G C5orf34 Synonymous SNV L502L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.459 206141 chr5 131705812 131705812 T - rs386134227 SLC22A5 C50Afs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 206142 chr4 68780339 68780339 G A rs139062730 TMPRSS11A Synonymous SNV A354A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.75 206143 chr4 71346696 71346696 A G rs776332319 MUC7 Nonsynonymous SNV N79D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 206144 chr5 13829656 13829656 G A rs140690090 DNAH5 Nonsynonymous SNV T2136M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.5 206145 chr14 23865523 23865523 C T rs535438755 MYH6 Nonsynonymous SNV R800H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 206146 chr14 24002676 24002676 G T ZFHX2 Nonsynonymous SNV P620Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.266 206147 chr22 18022291 18022291 C T rs370474804 CECR2 Nonsynonymous SNV P657L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.14 206148 chr5 140306658 140306658 C T rs782173390 PCDHAC1 Nonsynonymous SNV H61Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.328 206149 chr11 3242959 3242959 A C rs11026002 MRGPRG-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 0.511 206150 chr14 24658877 24658877 A T TM9SF1 Nonsynonymous SNV F435Y 0 0.005 0 0 0 2 0 0 0 0 0 0 27.5 206151 chr11 3243194 3243194 T C rs11026003 MRGPRG-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 1.764 206152 chr14 24675301 24675303 AAG - rs762807506 TSSK4 K60del 0 0.003 0 0 0 1 0 0 0 0 0 0 206153 chr5 167689240 167689240 G A rs369265677 TENM2 Nonsynonymous SNV G2345S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.67 206154 chr3 137881014 137881014 G A rs114451412 DBR1 Nonsynonymous SNV S451L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.2 206155 chr14 24877515 24877515 C G rs200319488 NYNRIN Nonsynonymous SNV D213E 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.124 206156 chr3 141497712 141497712 G A rs56019094 GRK7 Nonsynonymous SNV V196M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.5 206157 chr3 141497713 141497713 T G rs55707760 GRK7 Nonsynonymous SNV V196G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.8 206158 chr3 14200252 14200252 G A rs187340581 XPC Synonymous SNV C184C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 5.5 206159 chr14 30068976 30068976 C T rs55996071 PRKD1 Synonymous SNV T651T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.59 206160 chr22 20920814 20920819 CAGCAG - rs765791180 MED15 Q190_Q191del 0 0 0 1 0 0 0.003 0 0 0 0 0 206161 chr22 21134045 21134045 G A rs146203260 SERPIND1 Nonsynonymous SNV D149N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 206162 chr2 27305952 27305952 C A EMILIN1 Nonsynonymous SNV L505M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 206163 chr3 148782611 148782611 T C rs745426954 HLTF Nonsynonymous SNV N345D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 206164 chr1 110203836 110203836 A G rs112419376 GSTM4 Nonsynonymous SNV K206R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 206165 chr22 21407739 21407739 A G rs201222591 LRRC74B Nonsynonymous SNV N275D 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 26.3 206166 chr14 33293554 33293554 T G AKAP6 Nonsynonymous SNV S2179A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.718 206167 chr3 150128766 150128766 C T rs149001069 TSC22D2 Synonymous SNV S543S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.599 206168 chr2 28081311 28081311 A G RBKS Nonsynonymous SNV C73R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 206169 chr11 44636859 44636859 T - CD82 R101Efs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 206170 chr5 178413450 178413450 G A rs199513794 GRM6 Nonsynonymous SNV T602M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 206171 chr5 178413730 178413730 C A rs372835620 GRM6 Nonsynonymous SNV D509Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 206172 chr11 4661835 4661835 C T rs766678969 OR51D1 Nonsynonymous SNV S272L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 206173 chr11 47612255 47612255 G C C1QTNF4 Synonymous SNV R36R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.675 206174 chr22 30767522 30767522 G A KIAA1656 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.607 206175 chr3 169847337 169847337 G A rs756845685 PHC3 Nonsynonymous SNV S296L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 206176 chr5 34949780 34949780 C A rs139482860 DNAJC21 Nonsynonymous SNV Q440K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 206177 chr22 30890169 30890169 G A SEC14L4 Nonsynonymous SNV P183L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 206178 chr6 106553055 106553055 A C rs762607868 PRDM1 Nonsynonymous SNV R206S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 206179 chr6 107070744 107070744 G A rs749275417 RTN4IP1 Synonymous SNV G25G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.26 206180 chr5 41038853 41038853 A G rs890523408 MROH2B Synonymous SNV H733H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 206181 chr11 487001 487001 A G PTDSS2 Synonymous SNV P182P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 206182 chr5 172750385 172750385 G T rs771722188 STC2 Synonymous SNV R115R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 206183 chr14 68053807 68053807 T G rs118013098 PLEKHH1 Nonsynonymous SNV F1317C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.9 206184 chr5 5190205 5190205 A G rs756629788 ADAMTS16 Nonsynonymous SNV D390G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 206185 chr3 185407361 185407361 G A IGF2BP2 Synonymous SNV S17S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.116 206186 chr22 38164164 38164164 G A rs191901426 TRIOBP Nonsynonymous SNV G473S 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 Likely benign 22.8 206187 chr3 189692392 189692392 G A rs772218098 P3H2 Synonymous SNV N288N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 206188 chr14 74402753 74402753 G T FAM161B Nonsynonymous SNV D568E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.43 206189 chr5 137260793 137260793 C T rs201071340 PKD2L2 Nonsynonymous SNV T438I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.984 206190 chr1 151509254 151509254 G C rs757238761 CGN Nonsynonymous SNV E1119Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 206191 chr3 195009950 195009950 A C ACAP2 Nonsynonymous SNV L692V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 206192 chr3 196051031 196051031 C A rs772116106 TM4SF19-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.515 206193 chr5 74412411 74412411 A G rs371570154 ANKRD31 Nonsynonymous SNV S1322P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 206194 chr5 74842932 74842932 G A rs148960463 POLK Nonsynonymous SNV E29K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Pathogenic 24.8 206195 chr5 140579415 140579415 T G PCDHB11 Nonsynonymous SNV M23R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.311 206196 chr5 140773073 140773073 A C PCDHGA8 Synonymous SNV T231T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 206197 chr14 93649713 93649713 T C rs74075220 MOAP1 Nonsynonymous SNV Q292R 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 15.66 206198 chr3 33134895 33134895 G A rs772369234 TMPPE Nonsynonymous SNV L265F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 206199 chr14 94088687 94088687 A C rs539328393 UNC79 Nonsynonymous SNV N1526T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.071 206200 chr5 78944960 78944960 G A rs200878934 TENT2 Nonsynonymous SNV R325H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 206201 chr5 89923390 89923390 A G rs760928835 ADGRV1 Synonymous SNV Q345Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.965 206202 chr11 57512394 57512394 C G rs781759530 BTBD18 Nonsynonymous SNV E451Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.49 206203 chr5 54420693 54420693 C T rs753242954 CDC20B Nonsynonymous SNV D385N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 206204 chrX 114540914 114540914 C T rs781872800 LUZP4 Stop gain R81X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 206205 chr3 40231417 40231417 G A rs71331109 MYRIP Synonymous SNV T189T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 11.5 206206 chr3 40499445 40499445 A G rs35187187 RPL14 Nonsynonymous SNV K23R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.09 206207 chr5 95099264 95099264 T A rs141806007 RHOBTB3 Nonsynonymous SNV D367E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 206208 chr5 60200691 60200691 C A rs150952570 ERCC8 Nonsynonymous SNV V137L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 206209 chr11 58379187 58379187 G A rs771654011 ZFP91 Nonsynonymous SNV R277K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.3 206210 chr14 102916094 102916094 G A rs774882832 TECPR2 Synonymous SNV A1068A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.29 206211 chr1 158589037 158589037 A G SPTA1 Nonsynonymous SNV F2169L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 206212 chr6 101090505 101090505 T C rs143087447 ASCC3 Nonsynonymous SNV I1285V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 206213 chr11 59516804 59516804 C G rs504320 OR10V2P 0 0 0.007 0 0 0 0 2 0 0 0 0 2.157 206214 chr3 44489894 44489894 C A rs148169473 ZNF445 Nonsynonymous SNV M411I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.318 206215 chr11 6023762 6023762 C T rs17809527 OR56A4 Nonsynonymous SNV R154Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.5 206216 chr14 105361054 105361054 A G rs199553262 CEP170B Nonsynonymous SNV N1440S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 206217 chrX 140994120 140994120 C T rs368865459 MAGEC1 Synonymous SNV S310S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.239 206218 chrX 140994128 140994128 C A rs780592490 MAGEC1 Nonsynonymous SNV S313Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 206219 chr6 170871055 170871085 GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG - TBP Q57Hfs*57 0.001 0 0 0 1 0 0 0 0 0 0 0 206220 chr11 62009791 62009791 G A rs2232947 SCGB1D2 Synonymous SNV S4S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.793 206221 chr11 6245237 6245237 C T rs141934541 FAM160A2 Nonsynonymous SNV R127Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 206222 chr2 118579600 118579600 T C rs770462842 DDX18 Nonsynonymous SNV I305T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 206223 chr11 63065056 63065056 T A rs117204398 SLC22A10 Synonymous SNV S229S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.499 206224 chr1 171607833 171607833 A C rs148167336 MYOC Nonsynonymous SNV F212V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 206225 chr5 176815164 176815164 G A rs201526364 SLC34A1 Nonsynonymous SNV E272K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 206226 chr1 171810819 171810819 A G DNM3 Nonsynonymous SNV E8G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 206227 chr11 64368212 64368212 C T rs200104135 SLC22A12 Nonsynonymous SNV T359M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.9 206228 chr1 17596822 17596822 C T rs148340061 PADI3 Synonymous SNV F249F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.91 206229 chr6 137015310 137015310 C T rs145409110 MAP3K5 Synonymous SNV T407T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.84 206230 chr15 42536362 42536362 T C rs145141787 TMEM87A Nonsynonymous SNV M109V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.602 206231 chr2 136626406 136626406 T C rs765366780 MCM6 Synonymous SNV R130R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.618 206232 chr15 43038351 43038351 G A TTBK2 Nonsynonymous SNV T1126I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 206233 chr15 43814702 43814702 G A rs200513920 MAP1A Nonsynonymous SNV G344E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 206234 chr15 43814704 43814704 G C rs201763786 MAP1A Nonsynonymous SNV A345P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 206235 chr15 43819427 43819427 A G rs200822432 MAP1A Nonsynonymous SNV E1919G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.018 206236 chr5 96122238 96122238 A G rs756927262 ERAP1 Synonymous SNV V565V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 8.85 206237 chr15 43819697 43819697 G A rs199600508 MAP1A Nonsynonymous SNV R2009Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.35 206238 chr11 65667775 65667775 G T rs937228183 FOSL1 Synonymous SNV S12S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 206239 chr5 34929945 34929945 G T rs754143117 DNAJC21 Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 206240 chr11 67925807 67925807 G T rs377489614 KMT5B Nonsynonymous SNV A497D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 206241 chr1 19432306 19432306 G A rs779737220 UBR4 Nonsynonymous SNV R4142W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 206242 chr6 43014745 43014745 T G CUL7 Nonsynonymous SNV K841T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 206243 chr6 43638716 43638717 AG - rs760441659 RSPH9 R305Sfs*10 0.001 0.003 0 0 1 1 0 0 0 0 0 0 206244 chr11 73768494 73768494 C T C2CD3 Nonsynonymous SNV E1683K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 20.3 206245 chr6 131156072 131156072 T - rs765201462 SMLR1 Y101Tfs*4 0.003 0.003 0 0 3 1 0 0 0 0 0 0 206246 chr11 7618842 7618842 C T rs552556618 PPFIBP2 Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 206247 chr15 66995675 66995675 - GCG rs1049534912 SMAD6 G33_D34insG 0 0.003 0 0 0 1 0 0 0 0 0 0 206248 chr6 49754445 49754445 T C rs35941002 PGK2 Synonymous SNV A152A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.08 206249 chr5 65108198 65108198 G A NLN Nonsynonymous SNV E654K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 206250 chr6 138753279 138753279 G A rs763185214 NHSL1 Nonsynonymous SNV R739C 0 0.003 0 0 0 1 0 0 0 0 0 0 26 206251 chr6 51497519 51497519 C T rs9474034 PKHD1 Nonsynonymous SNV V3837I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 12.74 206252 chr6 51612837 51612837 C T rs35445653 PKHD1 Nonsynonymous SNV V3193I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.002 206253 chr4 109822300 109822300 C G rs199543731 COL25A1 Nonsynonymous SNV G266A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 206254 chr4 110394333 110394333 C A SEC24B Nonsynonymous SNV Q351K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.695 206255 chr11 7960320 7960320 G A rs750231152 OR10A3 Synonymous SNV L250L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.495 206256 chr4 110864533 110864533 C T rs9991664 EGF Nonsynonymous SNV H151Y 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 1.367 206257 chr4 110865044 110865044 G C rs28553469 EGF Nonsynonymous SNV D186H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 5.305 206258 chr10 13541986 13541986 T C rs753146693 BEND7 Synonymous SNV E28E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.681 206259 chr4 110932508 110932508 C A rs28592692 EGF Nonsynonymous SNV T1133N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 7.818 206260 chr6 149983234 149983234 T C rs140136328 LATS1 Synonymous SNV P728P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.147 206261 chr4 119736642 119736642 C G SEC24D Nonsynonymous SNV G213R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.9 206262 chr6 24495354 24495354 C G rs185042766 ALDH5A1 Nonsynonymous SNV L44V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.59 206263 chr4 122254003 122254003 T C rs144384829 QRFPR Nonsynonymous SNV H257R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.73 206264 chr3 195489003 195489003 C T rs776306350 MUC4 Nonsynonymous SNV A536T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.54 206265 chr4 138442262 138442262 T C rs368981762 PCDH18 Nonsynonymous SNV D1109G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 206266 chr6 3015772 3015772 G C rs146678417 NQO2 Synonymous SNV L104L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.47 206267 chr4 152212304 152212304 A C rs765696448 PRSS48 Nonsynonymous SNV D229A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 206268 chr1 214830449 214830449 C A rs748248949 CENPF Nonsynonymous SNV H2887N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 206269 chr12 103352123 103352137 CGGCCGCAGCCGCGG - rs533680685 ASCL1 A43_A47del 0 0 0.003 0 0 0 0 1 0 0 0 0 206270 chr15 89861818 89861818 G A rs2307440 POLG Nonsynonymous SNV R1146C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 206271 chr15 90021118 90021118 T C RHCG Nonsynonymous SNV I309V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 206272 chr15 90167553 90167553 C G rs200081503 TICRR Nonsynonymous SNV L1337V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.864 206273 chr6 16327867 16327867 - TGC ATXN1 Q225_H226insQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 206274 chr6 166720807 166720807 G C rs199941091 PRR18 Nonsynonymous SNV S275C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 206275 chr10 49667829 49667829 C T rs75710233 ARHGAP22 Nonsynonymous SNV R96H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.28 206276 chr4 159790159 159790159 T A rs201629749 FNIP2 Nonsynonymous SNV S437T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.345 206277 chr1 222903511 222903511 T G rs752823977 BROX Nonsynonymous SNV N295K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.2 206278 chr4 169325183 169325183 A C DDX60L Synonymous SNV L1096L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 206279 chr6 36953903 36953903 G A rs202185562 MTCH1 Nonsynonymous SNV A16V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25 206280 chr1 228005107 228005107 G T rs754791772 PRSS38 Nonsynonymous SNV C170F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.8 206281 chr6 4069440 4069440 C T rs148572232 FAM217A Synonymous SNV L339L 0.004 0 0 2 5 0 0.005 0 0 0 0 0 7.262 206282 chr4 177061070 177061070 G C rs138006002 WDR17 Nonsynonymous SNV A463P 0.006 0 0 1 7 0 0.003 0 0 0 0 0 24.6 206283 chr1 22848143 22848143 A - ZBTB40 E956Dfs*5 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 206284 chr4 1807532 1807532 G C rs372367824 FGFR3 Synonymous SNV L455L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.522 206285 chr4 183714156 183714156 C T rs775880507 TENM3 Nonsynonymous SNV R2111W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 206286 chr1 228527758 228527758 G C rs200362121 OBSCN Nonsynonymous SNV A5791P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.6 206287 chr1 229462623 229462623 C T rs200867954 CCSAP Synonymous SNV A166A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 206288 chr6 43270496 43270496 G A rs771515636 SLC22A7 Synonymous SNV V458V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 2.903 206289 chr12 124293351 124293351 C G rs199857559 DNAH10 Nonsynonymous SNV Q881E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.409 206290 chr6 128134726 128134726 C G rs748436522 THEMIS Nonsynonymous SNV D354H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 206291 chr16 1484786 1484786 G A rs769618310 CCDC154 Nonsynonymous SNV T587M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.222 206292 chr12 126138945 126138945 C T rs746062293 TMEM132B Synonymous SNV L488L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.306 206293 chr16 1569886 1569886 G A rs556735183 IFT140 Nonsynonymous SNV R1346C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 206294 chr6 46690589 46690589 C T rs140122839 PLA2G7 Nonsynonymous SNV G14S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.854 206295 chr6 46719834 46719834 G A ANKRD66 Stop gain W105X 0.002 0 0 0 2 0 0 0 0 0 0 0 41 206296 chr3 47459095 47459095 G A rs760867030 SCAP Nonsynonymous SNV P634L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 206297 chr4 24578282 24578282 G A rs368980504 DHX15 Nonsynonymous SNV R31W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 206298 chr12 132522531 132522531 C T rs149538454 EP400 Nonsynonymous SNV P2033S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 206299 chr2 233399868 233399868 G A rs148939701 CHRND Nonsynonymous SNV R273H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 206300 chr7 116199258 116199258 G A rs201317624 CAV1 Nonsynonymous SNV V121I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.429 206301 chr16 2312338 2312338 G A rs780902021 RNPS1 Nonsynonymous SNV A183V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 206302 chr12 1967741 1967741 A G CACNA2D4 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 206303 chr1 24392408 24392408 C T rs367721564 MYOM3 Synonymous SNV T1169T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.02 206304 chr16 3613606 3613606 C T rs759384434 NLRC3 Synonymous SNV T444T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.056 206305 chr16 3726127 3726127 C T rs780875857 TRAP1 Nonsynonymous SNV A189T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 206306 chr6 64431513 64431513 G T rs752557263 EYS Nonsynonymous SNV T2805K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 206307 chr16 4625012 4625012 G A rs549479446 C16orf96 Nonsynonymous SNV E216K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 206308 chr16 4626453 4626453 G A rs754694263 C16orf96 Nonsynonymous SNV G658S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.667 206309 chr12 40677873 40677873 T A LRRK2 Nonsynonymous SNV V813D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 206310 chr6 51909808 51909808 G A rs915359610 PKHD1 Nonsynonymous SNV P891S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 206311 chr10 97515407 97515407 C G rs138691825 ENTPD1-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.634 206312 chr10 97515611 97515611 A G rs149377176 ENTPD1-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.508 206313 chr6 16326724 16326724 G A rs137924776 ATXN1 Synonymous SNV N606N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.794 206314 chr3 8809239 8809239 G C OXTR Nonsynonymous SNV P212R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 206315 chr11 1010583 1010583 C T rs200458953 AP2A2 Synonymous SNV A927A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.35 206316 chr3 97596315 97596315 A C rs535741821 CRYBG3 Nonsynonymous SNV S2093R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.5 206317 chr2 27305611 27305611 C A rs200400927 EMILIN1 Nonsynonymous SNV A391E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12 206318 chr3 97596316 97596316 G C rs555962271 CRYBG3 Nonsynonymous SNV S2093T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.5 206319 chr16 21222815 21222815 T G rs781382668 ZP2 Synonymous SNV A18A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.123 206320 chr12 49994349 49994349 T G rs1045758382 FAM186B Nonsynonymous SNV Q358H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 206321 chr3 9952556 9952556 G A rs751271162 IL17RE Synonymous SNV S154S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.137 206322 chr16 24124345 24124345 A G rs568306326 PRKCB Synonymous SNV P291P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.39 206323 chr16 24800786 24800786 A G rs373034622 TNRC6A Nonsynonymous SNV N275D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.54 206324 chr2 30987041 30987041 G A rs145281928 CAPN13 Nonsynonymous SNV A219V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 206325 chr2 31010122 31010122 A G rs367581088 CAPN13 Synonymous SNV L24L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.161 206326 chr6 84834867 84834867 A G rs148778724 CEP162 Synonymous SNV D1302D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.091 206327 chr6 86303393 86303393 C A rs567468167 SNX14 Nonsynonymous SNV R15L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 206328 chr2 36764607 36764607 C A rs113863774 CRIM1 Synonymous SNV T847T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 206329 chr12 52632466 52632466 T C KRT7 Synonymous SNV D200D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 206330 chr16 30116237 30116237 G A rs761804438 GDPD3 Nonsynonymous SNV R305W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 206331 chr7 100550428 100550428 C G MUC3A Nonsynonymous SNV P337A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.182 206332 chr6 24523136 24523136 G T ALDH5A1 Stop gain E338X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 206333 chr6 99887677 99887677 C T rs146738523 USP45 Nonsynonymous SNV D652N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 34 206334 chr16 56481898 56481898 G A rs145698949 NUDT21 Synonymous SNV Y40Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.101 206335 chr2 54858490 54858490 G A rs138292943 SPTBN1 Synonymous SNV T1089T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.374 206336 chr7 20685686 20685686 T C rs767597218 ABCB5 Synonymous SNV Y302Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.068 206337 chr7 20824968 20824973 GCCGCT - SP8 S155_G156del 0.001 0 0 0 1 0 0 0 0 0 0 0 206338 chr16 58552864 58552865 AC - SETD6 Q452Afs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 206339 chr4 89575221 89575221 C G rs140553444 HERC3 Synonymous SNV L120L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 206340 chr1 40705296 40705296 G A rs912055806 RLF Nonsynonymous SNV C1641Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 206341 chr1 40716970 40716970 G A rs115454619 TMCO2 Nonsynonymous SNV V85I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 206342 chr1 40771858 40771858 C G rs199502479 COL9A2 Nonsynonymous SNV G337A 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 206343 chr7 102113016 102113016 G A rs141380376 LRWD1 Synonymous SNV S398S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.202 206344 chr1 40775800 40775800 C T rs148362133 COL9A2 Nonsynonymous SNV G259S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 206345 chr12 58024063 58024063 C T B4GALNT1 Nonsynonymous SNV G140E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 206346 chr7 1027042 1027042 G A CYP2W1 Nonsynonymous SNV D340N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 206347 chr1 40954877 40954877 G C rs34752670 ZFP69 Nonsynonymous SNV V113L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.4 206348 chr4 129028518 129028518 C T rs148967698 LARP1B Synonymous SNV V346V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.112 206349 chr16 67325658 67325658 G A rs201413788 KCTD19 Synonymous SNV P767P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.236 206350 chr7 24745807 24745807 G A rs368035633 GSDME Synonymous SNV L229L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.307 206351 chr12 6101027 6101027 C T rs71581020 VWF Synonymous SNV E2252E 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 15.36 206352 chr1 41107568 41107568 T G rs666631 RIMS3 Synonymous SNV S10S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.128 206353 chr1 41945165 41945165 G T rs139181275 EDN2 Nonsynonymous SNV S118Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23 206354 chr7 27135316 27135316 - TGG rs758237482 HOXA1 H72_R73insH 0.001 0 0 0 1 0 0 0 0 0 0 0 206355 chr4 1348590 1348590 G A rs776936537 UVSSA Synonymous SNV K334K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.17 206356 chr4 98762073 98762073 G T STPG2 Nonsynonymous SNV A352E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 206357 chr1 42045427 42045427 C T rs114498379 HIVEP3 Nonsynonymous SNV R1681H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 206358 chr1 42045741 42045741 C T rs9943171 HIVEP3 Synonymous SNV T1576T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 206359 chr1 42048456 42048456 G A rs9943082 HIVEP3 Synonymous SNV I671I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.65 206360 chr16 70506508 70506508 G A rs200099381 FCSK Nonsynonymous SNV R469Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 206361 chr16 70721936 70721936 G A rs147699666 VAC14 Synonymous SNV Y514Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.05 206362 chr12 68696416 68696416 T A rs141261059 MDM1 Synonymous SNV P372P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 206363 chr16 72821618 72821618 - CCG rs757337999 ZFHX3 G2613_S2614insG 0 0.003 0 0 0 1 0 0 0 0 0 0 206364 chr5 112176056 112176056 C T rs72541813 APC Nonsynonymous SNV R1571C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 206365 chr4 153601045 153601045 A G rs769355444 TMEM154 Nonsynonymous SNV I14T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.5 206366 chr7 121651539 121651539 C A rs370841020 PTPRZ1 Synonymous SNV S813S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.26 206367 chr11 118764854 118764854 C A rs200959025 CXCR5 Nonsynonymous SNV R156S 0.006 0.008 0 2 7 3 0.005 0 0 0 0 0 9.062 206368 chr1 45811630 45811630 C T rs774581306 TESK2 Nonsynonymous SNV G223R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 206369 chr2 79254225 79254225 C T rs755636124 REG3G Synonymous SNV F87F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 206370 chr7 127225102 127225102 C T rs199608433 GCC1 Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.668 206371 chr12 78360010 78360010 T C rs943431202 NAV3 Nonsynonymous SNV I139T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.3 206372 chr7 43982602 43982602 C G UBE2D4 Nonsynonymous SNV P57R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 28.3 206373 chr2 88926724 88926724 G A rs549451772 EIF2AK3 Synonymous SNV L23L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.637 206374 chr7 117432453 117432453 A G rs201897448 CTTNBP2 Nonsynonymous SNV I248T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.45 206375 chr2 95787483 95787483 C A rs114292623 MRPS5 Synonymous SNV T18T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 206376 chr2 95845965 95845965 G A rs114851784 ZNF2 Nonsynonymous SNV M32I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 206377 chr2 95954293 95954293 C T rs765079560 PROM2 Synonymous SNV A799A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.21 206378 chr2 96798451 96798451 C T rs78275861 ASTL Synonymous SNV S155S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.35 206379 chr5 134015392 134015392 G A SEC24A Nonsynonymous SNV C452Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29 206380 chr16 87742982 87742982 C T rs150593777 KLHDC4 Nonsynonymous SNV V389I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.52 206381 chr7 140035098 140035098 C G SLC37A3 Nonsynonymous SNV A345P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.188 206382 chr16 88495493 88495493 A T rs189476639 ZNF469 Nonsynonymous SNV S539C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.337 206383 chr1 6206882 6206882 G A rs148974462 CHD5 Nonsynonymous SNV T478M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.3 206384 chr16 88705556 88705556 G A IL17C Stop gain W58X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 206385 chr12 9907268 9907268 C T rs142870511 CD69 Nonsynonymous SNV A136T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 206386 chr16 88783593 88783593 C T rs956273288 PIEZO1 Synonymous SNV K2166K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.3 206387 chr7 138564291 138564291 C T rs902966284 KIAA1549 Synonymous SNV P1446P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 206388 chr16 88967945 88967945 C T CBFA2T3 Nonsynonymous SNV A91T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.29 206389 chr13 103400264 103400264 A G rs1024300984 CCDC168 Nonsynonymous SNV I928T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.724 206390 chr5 140682802 140682802 G A rs376863663 SLC25A2 Nonsynonymous SNV H211Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 206391 chr3 112666762 112666762 C T rs372085655 CD200R1 Nonsynonymous SNV G26D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.761 206392 chr5 140734802 140734802 G C rs146402451 PCDHGA4 Nonsynonymous SNV R43P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 206393 chr5 140740107 140740110 GACT - PCDHGB2 T136Rfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 206394 chr13 110436039 110436039 G C rs777328184 IRS2 Nonsynonymous SNV L788V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 206395 chr7 1477769 1477769 C T rs200579488 MICALL2 Nonsynonymous SNV V759M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 206396 chr16 89777376 89777376 C G VPS9D1 Nonsynonymous SNV Q292H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 206397 chr7 148768037 148768037 G C rs753007851 ZNF786 Synonymous SNV L609L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.148 206398 chr7 148768724 148768724 C T rs745676796 ZNF786 Nonsynonymous SNV M380I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.007 206399 chr1 70766496 70766496 A C ANKRD13C Nonsynonymous SNV F291C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.4 206400 chr5 140811395 140811395 C - rs571306928 PCDHGA12 E358Kfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 206401 chr13 111522120 111522120 T - rs533970285 LINC00346 0 0 0.003 0 0 0 0 1 0 0 0 0 206402 chr13 112722596 112722596 G C SOX1 Nonsynonymous SNV E208D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.687 206403 chr7 150027772 150027772 G A rs149586894 ZBED6CL Synonymous SNV P93P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.394 206404 chr1 8073704 8073704 C A ERRFI1 Nonsynonymous SNV V319L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.95 206405 chr1 82409338 82409338 G A rs768848597 ADGRL2 Synonymous SNV Q361Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.258 206406 chr5 148619341 148619341 A C ABLIM3 Nonsynonymous SNV D303A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 206407 chr5 149431326 149431326 T C rs914245454 HMGXB3 Synonymous SNV T984T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.663 206408 chr7 766637 766637 G A rs1048255936 DNAAF5 Nonsynonymous SNV A94T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23 206409 chr11 18318364 18318364 A G HPS5 Synonymous SNV C383C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.052 206410 chr11 1857488 1857488 G A rs202139873 SYT8 Nonsynonymous SNV V179M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.022 206411 chr5 150678162 150678162 C T rs150945002 SLC36A3 Nonsynonymous SNV G71S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 206412 chr5 150858989 150858989 G A rs77695971 SLC36A1 Synonymous SNV A366A 0.003 0.005 0.024 2 3 2 0.005 7 0 0 0 0 8.498 206413 chr1 89579912 89579912 G A rs765994047 GBP2 Synonymous SNV N312N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.73 206414 chr7 87190684 87190684 T C rs370448121 ABCB1 Nonsynonymous SNV D241G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.21 206415 chr7 1519222 1519222 G A rs376127000 INTS1 Synonymous SNV V1391V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.076 206416 chr13 37453762 37453762 A G rs111748421 SMAD9 Nonsynonymous SNV L22P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 206417 chr1 9118300 9118300 G C rs190638553 SLC2A5 Nonsynonymous SNV L15V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.293 206418 chr7 92015925 92015925 G A ANKIB1 Nonsynonymous SNV V574M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 206419 chr11 27389898 27389898 G T rs199575399 LGR4 Nonsynonymous SNV P767Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 26.7 206420 chr13 53035386 53035386 C T rs370214081 CKAP2 Nonsynonymous SNV T143I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 206421 chr13 53042440 53042440 G A rs117024941 CKAP2 Nonsynonymous SNV V503I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 206422 chr11 30937198 30937198 A T DCDC1 Nonsynonymous SNV D278E 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.6 206423 chr5 176024515 176024515 T C rs1010596410 GPRIN1 Nonsynonymous SNV E774G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.877 206424 chr13 77900736 77900736 C A MYCBP2 Nonsynonymous SNV D59Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 206425 chr7 100550558 100550558 C A MUC3A Nonsynonymous SNV A380D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.149 206426 chr20 1471927 1471927 G A rs963893832 SIRPB2 Nonsynonymous SNV P27S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.988 206427 chr13 99630095 99630095 C G rs199968526 DOCK9 Synonymous SNV L23L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 8.113 206428 chr7 36917684 36917684 C A rs147389821 ELMO1 Nonsynonymous SNV V105F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 206429 chr3 134084685 134084685 T A rs199696040 AMOTL2 Nonsynonymous SNV D476V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 206430 chr3 136192413 136192413 G A STAG1 Nonsynonymous SNV P365S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 206431 chr7 38500895 38500895 T C rs757012782 AMPH Synonymous SNV T335T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.23 206432 chr20 16486748 16486748 C T rs776485491 KIF16B Nonsynonymous SNV G263R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 206433 chr14 103589209 103589209 A C rs562388550 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 3.628 206434 chr7 43508560 43508560 C T rs770504958 HECW1 Synonymous SNV H951H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 206435 chr17 7679396 7679396 C T rs145092294 DNAH2 Nonsynonymous SNV R1626W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 206436 chr3 140401606 140401606 C A TRIM42 Nonsynonymous SNV T215N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 206437 chr17 7751143 7751143 C A rs747967832 KDM6B Nonsynonymous SNV R513S 0 0.005 0 0 0 2 0 0 0 1 0 0 13.69 206438 chr7 44146451 44146451 C G rs200193837 AEBP1 Nonsynonymous SNV P187R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 13.7 206439 chr7 36435951 36435951 G A rs141973124 ANLN Nonsynonymous SNV R32K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 206440 chr14 105846137 105846137 G A rs116085053 PACS2 Nonsynonymous SNV A341T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.928 206441 chr17 8661610 8661610 C T rs192464033 SPDYE4 Nonsynonymous SNV E31K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.16 206442 chr7 100683630 100683630 C G rs748305309 MUC17 Nonsynonymous SNV P2978R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 206443 chr20 23016850 23016850 C T rs4988474 SSTR4 Nonsynonymous SNV R244C 0 0 0 2 0 0 0.005 0 0 0 0 0 27.5 206444 chr7 49951652 49951652 C T rs746597662 VWC2 Synonymous SNV T283T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 206445 chr4 8228993 8228993 G A rs774559241 SH3TC1 Synonymous SNV P448P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.202 206446 chr14 21074602 21074602 G A rs140719313 LOC254028 0 0 0.003 0 0 0 0 1 0 0 0 0 4.619 206447 chr17 10408497 10408497 C T rs752321678 MYH1 Synonymous SNV Q806Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.9 206448 chr7 5428445 5428445 G A rs557962394 TNRC18 Nonsynonymous SNV P337L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 11.18 206449 chr17 11795106 11795106 G A rs199891855 DNAH9 Nonsynonymous SNV V21I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 206450 chr17 12666279 12666279 C T rs948277846 LOC100128006 0 0.003 0 0 0 1 0 0 0 0 0 0 5.857 206451 chr7 4876184 4876184 C T rs767893967 RADIL Synonymous SNV P196P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 206452 chr8 133053340 133053340 G A rs1033614805 OC90 Synonymous SNV P136P 0.004 0.008 0 0 5 3 0 0 0 0 0 0 9.612 206453 chr8 133107831 133107831 A T rs759144068 HHLA1 Nonsynonymous SNV V128E 0.001 0 0 0 1 0 0 0 0 0 0 0 26 206454 chr14 23573921 23573921 C T rs145299291 LMLN2 Nonsynonymous SNV G70E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.721 206455 chr8 134128880 134128880 C T rs139055416 TG Synonymous SNV I2594I 0.002 0.01 0 0 2 4 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.71 206456 chr20 32251417 32251417 G A C20orf144 Nonsynonymous SNV G69D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.17 206457 chr5 54329605 54329605 G A rs146429265 GZMK Nonsynonymous SNV G216S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 206458 chr20 32664880 32664880 T C rs761012335 RALY Synonymous SNV G219G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.089 206459 chr8 139145031 139145031 A G rs193010937 FAM135B Synonymous SNV Y1342Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.916 206460 chr5 5460787 5460787 C T rs776442757 ICE1 Nonsynonymous SNV A447V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.887 206461 chr8 141549464 141549464 C T rs372386745 AGO2 Synonymous SNV Q708Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.22 206462 chr7 128494593 128494593 C A FLNC Nonsynonymous SNV P2252H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 206463 chr5 633907 633907 G A rs370623691 CEP72 Nonsynonymous SNV C179Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.18 206464 chr20 36640664 36640664 G A rs750116049 TTI1 Nonsynonymous SNV R519W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 206465 chr20 3669188 3669188 G A rs907696440 SIGLEC1 Synonymous SNV P1692P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.376 206466 chr8 143381955 143381955 G A rs116871603 TSNARE1 Synonymous SNV N175N 0.004 0 0 0 5 0 0 0 0 0 0 0 9.178 206467 chr8 143746111 143746111 G A rs104894081 JRK Nonsynonymous SNV T456M 0.004 0 0 0 5 0 0 0 0 0 0 0 4.47 206468 chr7 77797357 77797357 C T rs763095272 MAGI2 Synonymous SNV E810E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 206469 chr8 144332381 144332381 C T rs144491055 ZFP41 Nonsynonymous SNV A123V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.46 206470 chr3 186390622 186390622 A C rs773936681 HRG Nonsynonymous SNV N202T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.12 206471 chr7 134890719 134890719 G A WDR91 Nonsynonymous SNV P229L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 206472 chr7 83823894 83823894 C G rs78084522 SEMA3A Nonsynonymous SNV W3C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 206473 chr7 86537843 86537843 G A KIAA1324L Synonymous SNV T552T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 206474 chr7 87280244 87280244 C A RUNDC3B Synonymous SNV R77R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 206475 chr7 75615086 75615086 C T rs375387233 POR Nonsynonymous SNV P530S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 206476 chr11 5529092 5529092 A G UBQLN3 Nonsynonymous SNV L566P 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 0.018 206477 chr5 75969415 75969415 G A IQGAP2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 206478 chr17 27948317 27948317 G C rs1039026647 CORO6 Synonymous SNV A41A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.34 206479 chr5 78264853 78264853 G A rs202134230 ARSB Nonsynonymous SNV R159C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 206480 chr20 45242287 45242287 C T rs756995738 SLC13A3 Synonymous SNV A63A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.88 206481 chr8 145625729 145625729 C A MIR6849 0.003 0 0 0 3 0 0 0 0 0 0 0 3.172 206482 chr3 196198975 196198975 G A rs143993777 RNF168 Synonymous SNV R477R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.348 206483 chr8 145689898 145689898 C G CYHR1 Nonsynonymous SNV G64A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.32 206484 chr8 145725733 145725733 G A PPP1R16A Nonsynonymous SNV G222R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 206485 chr14 59112441 59112441 C A rs564164674 DACT1 Nonsynonymous SNV T330K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 22.6 206486 chr17 36958378 36958378 C T rs369359892 CWC25 Synonymous SNV S415S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.03 206487 chr14 59789680 59789680 G A rs149324121 DAAM1 Nonsynonymous SNV E171K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 206488 chr3 31656684 31656684 T C STT3B Nonsynonymous SNV M322T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 206489 chr17 38519730 38519730 C G GJD3 Nonsynonymous SNV C113S 0 0.005 0 0 0 2 0 0 0 0 0 0 8.36 206490 chr14 64518529 64518529 A G rs190582637 SYNE2 Nonsynonymous SNV N2633S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.001 206491 chr8 18729191 18729191 G C PSD3 Nonsynonymous SNV Q362E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.44 206492 chr14 65210077 65210077 G A rs200033297 PLEKHG3 Nonsynonymous SNV G1106S 0 0 0.007 0 0 0 0 2 0 0 0 0 1.857 206493 chr8 100832259 100832259 A G rs28940272 VPS13B Nonsynonymous SNV N2993S 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 206494 chr14 67390944 67390944 A G rs755083907 GPHN Nonsynonymous SNV M255V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.656 206495 chr20 60503443 60503443 C A rs150782695 CDH4 Nonsynonymous SNV A619E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.94 206496 chr14 76905810 76905810 G A rs781612689 ESRRB Synonymous SNV S38S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.77 206497 chr3 44285248 44285248 A G rs183567766 TOPAZ1 Nonsynonymous SNV Q417R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.024 206498 chr3 44310791 44310791 G A rs541523820 TOPAZ1 Nonsynonymous SNV G1082R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 206499 chr14 81743581 81743581 T C rs372241489 STON2 Nonsynonymous SNV T692A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 206500 chr6 118887425 118887425 G A rs764774961 CEP85L Nonsynonymous SNV T96I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 206501 chr14 94401109 94401109 G A rs149373526 ASB2 Stop gain R553X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 206502 chr11 58190330 58190330 C T rs202058891 OR5B2 Synonymous SNV T135T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.084 206503 chr8 36767016 36767016 G A rs533356839 KCNU1 Nonsynonymous SNV R765Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 206504 chr8 144522387 144522389 GAG - rs775058622 ZC3H3 S881del 0.001 0.008 0 0 1 3 0 0 0 0 0 0 206505 chr8 144590064 144590064 T C rs201025784 ZC3H3 Nonsynonymous SNV S523G 0.002 0.008 0 0 2 3 0 0 0 0 0 0 3.418 206506 chr14 94770760 94770760 C T rs774695483 SERPINA6 Nonsynonymous SNV V405M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.358 206507 chr17 42478140 42478140 T A rs143765658 GPATCH8 Nonsynonymous SNV K357N 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.8 206508 chr15 100514730 100514730 C T rs141373128 ADAMTS17 Synonymous SNV T1055T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 206509 chr17 43332512 43332512 G A rs142659640 SPATA32 Nonsynonymous SNV T346M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.27 206510 chr17 45299153 45299153 G A rs374127769 MYL4 Nonsynonymous SNV R140H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 206511 chr6 144860493 144860493 G C rs898911637 UTRN Nonsynonymous SNV E2145Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.576 206512 chr8 145001774 145001774 C T rs782730877 PLEC Nonsynonymous SNV R1173H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Uncertain significance 26.1 206513 chr3 51392390 51392390 G A rs367930026 DOCK3 Synonymous SNV P1395P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.88 206514 chr15 27193182 27193182 G A rs74006538 GABRA5 Synonymous SNV T397T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.794 206515 chr15 27573977 27573977 G C rs566270713 GABRG3 Nonsynonymous SNV Q172H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 206516 chr15 28375367 28375367 C T HERC2 Synonymous SNV G4248G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 206517 chr6 151670168 151670168 C T rs781318638 AKAP12 Synonymous SNV D109D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.1 206518 chr15 31775504 31775504 C T rs879575757 OTUD7A Nonsynonymous SNV R925Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25 206519 chr8 143625703 143625703 C T rs376692868 ADGRB1 Synonymous SNV S1560S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 206520 chr3 53326363 53326363 G C DCP1A Nonsynonymous SNV S214R 0 0 0 1 0 0 0.003 0 0 0 0 0 23 206521 chr5 174937164 174937164 G A rs117451706 SFXN1 Nonsynonymous SNV V130I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.119 206522 chr3 53898777 53898777 G A rs774743660 IL17RB Synonymous SNV R317R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.194 206523 chr17 62034755 62034755 C T rs749400108 SCN4A Nonsynonymous SNV A715T 0 0.003 0 0 0 1 0 0 0 0 0 0 33 206524 chr17 62041867 62041867 C T rs527384137 SCN4A Nonsynonymous SNV M471I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.46 206525 chr3 58406296 58406296 G A PXK 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 206526 chr21 45564775 45564775 A C rs150463534 GATD3A, GATD3B Nonsynonymous SNV I220L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.46 206527 chr3 66436546 66436546 C T rs61751731 LRIG1 Nonsynonymous SNV A550T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.95 206528 chr8 145112801 145112801 C T OPLAH Nonsynonymous SNV E372K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 206529 chr15 42246096 42246096 C T rs755750781 EHD4 Synonymous SNV P93P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 206530 chr3 78763613 78763613 A G rs200951485 ROBO1 Nonsynonymous SNV S288P 0 0 0 1 0 0 0.003 0 0 0 0 0 28 206531 chr11 64940249 64940249 G A rs752699248 SPDYC Nonsynonymous SNV R204H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.596 206532 chr3 97594694 97594694 G T CRYBG3 Nonsynonymous SNV K1552N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.777 206533 chr15 45434285 45434285 C T rs140249290 DUOX1 Synonymous SNV I599I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.09 206534 chr17 72469863 72469863 A G CD300A Nonsynonymous SNV I77V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 206535 chr6 18121869 18121869 G A rs142941035 NHLRC1 Synonymous SNV S323S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.777 206536 chr8 1998956 1998956 C T rs149935963 MYOM2 Nonsynonymous SNV R26W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 206537 chr11 66797641 66797641 A G rs551337288 SYT12 Nonsynonymous SNV H9R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.13 206538 chr15 57820991 57820991 G A rs146425123 CGNL1 Nonsynonymous SNV S1060N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 206539 chr7 95157432 95157432 C A rs772632934 ASB4 Nonsynonymous SNV H265Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 206540 chr7 99725799 99725799 G A rs779531502 MBLAC1 Nonsynonymous SNV E261K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 206541 chr22 26317372 26317372 G A rs369683570 MYO18B Nonsynonymous SNV S1839N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 206542 chr11 6913523 6913523 T A OR2D2 Nonsynonymous SNV D70V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 27.8 206543 chr8 6482461 6482461 A C rs917472294 MCPH1 Nonsynonymous SNV I833L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 206544 chr22 28692228 28692228 G A rs190988568 TTC28 Synonymous SNV H297H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.783 206545 chr15 69695942 69695942 C T rs547005137 PAQR5 Synonymous SNV H258H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 206546 chr17 76993649 76993649 C T rs144060377 CANT1 Nonsynonymous SNV R19Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 206547 chr22 31032746 31032746 A C SLC35E4 Synonymous SNV P103P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 206548 chr8 107715305 107715305 G A rs771276536 OXR1 Nonsynonymous SNV E276K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 206549 chr8 109483082 109483082 G A rs141372957 EMC2 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 206550 chr22 32110594 32110594 C T rs910077724 PRR14L Synonymous SNV L1077L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.056 206551 chr6 36940501 36940501 T C rs775547171 MTCH1 Nonsynonymous SNV N278S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 206552 chr22 32838692 32838692 G A BPIFC Synonymous SNV V207V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.313 206553 chr15 75949537 75949537 G A rs754536439 SNX33 Nonsynonymous SNV R569H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 206554 chr8 120801106 120801106 G A rs745511347 TAF2 Nonsynonymous SNV A536V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.29 206555 chr15 78790399 78790399 G A rs201475622 IREB2 Nonsynonymous SNV V686M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 206556 chr17 79792471 79792471 C A rs763640006 PPP1R27 Synonymous SNV L83L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 206557 chr15 81171090 81171090 T C rs747509725 CEMIP Synonymous SNV P41P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.811 206558 chr4 154624489 154624489 C T TLR2 Nonsynonymous SNV L144F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 206559 chr4 154625547 154625547 C A TLR2 Synonymous SNV S496S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.312 206560 chr22 38121872 38121872 C T rs199594270 TRIOBP Synonymous SNV H1103H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.952 206561 chr22 38221337 38221337 G A rs756080747 GALR3 Nonsynonymous SNV V323I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.72 206562 chr9 131568218 131568218 C T rs533914448 TBC1D13 Synonymous SNV D208D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.3 206563 chr22 39813759 39813759 T G rs35469986 TAB1 Nonsynonymous SNV L152R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.7 206564 chr18 3135676 3135676 T C MYOM1 Nonsynonymous SNV K693R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 206565 chr6 44255372 44255372 A G TCTE1 Nonsynonymous SNV I64T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 206566 chr8 75737733 75737733 A G rs139608762 PI15 Synonymous SNV P83P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 9.381 206567 chr15 89421244 89421244 G A rs572364452 HAPLN3 Nonsynonymous SNV P347L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 206568 chr22 44373820 44373820 G A rs118006199 SAMM50 Synonymous SNV K306K 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 9.662 206569 chr9 136521597 136521597 C T rs73559959 DBH-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.151 206570 chr4 185138845 185138845 G A rs200465824 ENPP6 Nonsynonymous SNV A43V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.94 206571 chr6 54805604 54805604 A C FAM83B Nonsynonymous SNV H612P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.325 206572 chr6 56417725 56417725 G A DST Nonsynonymous SNV L2666F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 206573 chr15 99023867 99023867 C T rs760512837 FAM169B Nonsynonymous SNV R49H 0 0 0.007 0 0 0 0 2 0 0 0 0 18.75 206574 chr9 138825276 138825276 A G rs147568418 UBAC1 Synonymous SNV S396S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.494 206575 chr6 56489359 56489359 C A DST Nonsynonymous SNV G1096V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 206576 chr9 125033145 125033145 G T rs767043366 MRRF Nonsynonymous SNV G13V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.117 206577 chr22 50666357 50666357 T C rs774132550 TUBGCP6 Nonsynonymous SNV K464R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.004 206578 chr18 31709877 31709877 T C rs150040422 NOL4 Synonymous SNV E124E 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 0.379 206579 chr9 107288954 107288954 G A rs76238339 OR13C4 Synonymous SNV C179C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.39 206580 chr6 74150028 74150028 T C rs372107956 CGAS Nonsynonymous SNV I340V 0.003 0 0 0 4 0 0 0 0 0 0 0 4.754 206581 chr9 109690582 109690582 C T rs141145292 ZNF462 Synonymous SNV P1463P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.41 206582 chr9 127055270 127055270 G A rs749881429 NEK6 Synonymous SNV E17E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.243 206583 chr9 127570069 127570069 C T rs77695038 OLFML2A Nonsynonymous SNV A179V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 206584 chr16 1401722 1401722 G A TSR3 Synonymous SNV F28F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.3 206585 chr9 139907018 139907018 G A rs556244401 ABCA2 Synonymous SNV N1702N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.565 206586 chr4 2939751 2939751 G C rs533514848 NOP14-AS1 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.514 206587 chr9 130210192 130210192 G A rs746195875 RPL12 Synonymous SNV I152I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 206588 chr4 3031087 3031087 A T GRK4 Nonsynonymous SNV E213V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 206589 chr16 15733081 15733081 C T rs150196755 MARF1 Nonsynonymous SNV G4R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 28.6 206590 chr16 16248792 16248792 C T rs79536709 ABCC6 Nonsynonymous SNV G1327R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 206591 chr9 140317991 140317991 C T rs142483373 NOXA1 Synonymous SNV L4L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.02 206592 chr16 1719097 1719097 G A rs773398102 CRAMP1 Nonsynonymous SNV A1144T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 206593 chr6 90062261 90062261 G T UBE2J1 Nonsynonymous SNV P10T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 206594 chr4 38933902 38933902 G A rs144432688 FAM114A1 Nonsynonymous SNV R250H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 206595 chr7 100211254 100211254 G C rs137921044 MOSPD3 Nonsynonymous SNV G136R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.5 206596 chr8 1842673 1842673 G A ARHGEF10 Nonsynonymous SNV A421T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 206597 chr4 44176942 44176942 T C KCTD8 Synonymous SNV K429K 0 0 0 1 0 0 0.003 0 0 0 0 0 3.126 206598 chr9 124535204 124535204 G A rs750080163 DAB2IP Synonymous SNV T675T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.781 206599 chr9 27286293 27286293 C G rs768116599 EQTN Nonsynonymous SNV M154I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.88 206600 chr16 28837686 28837686 T C rs758834489 ATXN2L Synonymous SNV N197N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.412 206601 chr16 28855756 28855756 C T rs377109856 TUFM Synonymous SNV A267A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.738 206602 chr16 28916741 28916741 C T rs774012300 RABEP2 Nonsynonymous SNV V529M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 206603 chr9 137808283 137808283 C T rs10441778 FCN1 Nonsynonymous SNV G43D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.78 206604 chr2 128412068 128412068 G A rs368536679 LIMS2 Nonsynonymous SNV P97S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29 206605 chr16 30666010 30666010 G A rs202163417 PRR14 Nonsynonymous SNV R240H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 206606 chr16 30709567 30709567 G C rs568086575 LOC730183 Synonymous SNV P21P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.84 206607 chr9 139273110 139273110 G A rs552706039 SNAPC4 Nonsynonymous SNV P1057S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 206608 chr16 3086705 3086705 G C rs1049150323 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 3.679 206609 chr2 136373733 136373733 G A R3HDM1 Synonymous SNV Q61Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.235 206610 chr9 72517228 72517228 G A rs768118935 C9orf135 Nonsynonymous SNV G90R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.178 206611 chr16 3190791 3190791 G A rs369014246 ZNF213 Nonsynonymous SNV E275K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 206612 chr9 131885349 131885349 G A PTPA Nonsynonymous SNV G15R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 206613 chr16 46744636 46744636 C T rs752995801 MYLK3 Nonsynonymous SNV C386Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 206614 chr12 133780299 133780299 C T ZNF268 Nonsynonymous SNV T676I 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 21.9 206615 chr8 55537426 55537426 C T rs776574526 RP1 Synonymous SNV D328D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.23 206616 chr9 135505740 135505740 G A rs768329211 DDX31 Nonsynonymous SNV P611L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 206617 chrX 100746613 100746613 A G rs148709886 ARMCX4 Nonsynonymous SNV I1013V 0.004 0.008 0 0 5 3 0 0 1 1 0 0 0.015 206618 chr2 170591852 170591852 C G KLHL23, PHOSPHO2-KLHL23 Nonsynonymous SNV L110V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 206619 chrX 106117019 106117019 G A rs143560463 TBC1D8B Nonsynonymous SNV E1063K 0.003 0.008 0 0 3 3 0 0 1 1 0 0 3.48 206620 chrX 106221327 106221327 C T rs138558505 MORC4 Nonsynonymous SNV V347M 0.003 0.008 0 0 3 3 0 0 1 1 0 0 32 206621 chr8 76471247 76471247 T C rs143897221 HNF4G Synonymous SNV N366N 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 1.315 206622 chr4 84348744 84348744 T C HELQ Nonsynonymous SNV N816S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 206623 chr9 34257574 34257574 G A rs372618681 KIF24 Synonymous SNV N677N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 206624 chr9 34381039 34381039 A C C9orf24 Nonsynonymous SNV L53R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 206625 chr8 86026581 86026581 G T LRRCC1 Stop gain E37X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.032 206626 chr4 8594596 8594596 C T rs779266249 CPZ Synonymous SNV V12V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 206627 chr19 3053943 3053943 C T rs141966620 TLE5 Synonymous SNV A156A 0 0.005 0 0 0 2 0 0 0 0 0 0 11.45 206628 chr2 179393930 179393930 C T TTN Synonymous SNV E26451E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.9 206629 chr8 88298808 88298808 C T rs1001363373 CNBD1 Synonymous SNV I317I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.563 206630 chr16 66420729 66420729 T C rs771180576 CDH5 Synonymous SNV S76S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.405 206631 chr2 179472605 179472605 C T TTN Nonsynonymous SNV G8572S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 206632 chr16 67964445 67964445 A G CTRL Nonsynonymous SNV V122A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 206633 chr7 128441541 128441541 C T rs117874579 CCDC136 Synonymous SNV L216L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.56 206634 chr19 3937268 3937268 G T rs200487219 NMRK2 Nonsynonymous SNV G55C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 206635 chr7 128475588 128475588 C T rs149474376 FLNC Synonymous SNV D187D 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 Benign/Likely benign 13.51 206636 chr19 4102404 4102404 G A rs139404261 MAP2K2 Synonymous SNV P166P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.22 206637 chr9 100961683 100961683 C T rs753436768 TBC1D2 Nonsynonymous SNV E463K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 206638 chrX 149945929 149945929 C T rs182874251 CD99L2 Nonsynonymous SNV D102N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.32 206639 chrX 149963926 149963926 C T rs140675421 CD99L2 Nonsynonymous SNV R55K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 206640 chr7 137773439 137773439 C T rs374656577 AKR1D1 Synonymous SNV H62H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.769 206641 chr9 107298400 107298400 G A OR13C3 Nonsynonymous SNV S232L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 206642 chr16 74334016 74334016 C T rs140080000 PSMD7 Synonymous SNV I26I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 206643 chr7 138946023 138946023 T C UBN2 Nonsynonymous SNV S311P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 206644 chr7 138968031 138968031 A C rs371332806 UBN2 Nonsynonymous SNV T794P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.037 206645 chr19 6467009 6467009 G A rs201161223 CRB3 Synonymous SNV T116T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.07 206646 chr5 114473278 114473278 T C rs751102823 TRIM36 Synonymous SNV T146T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.922 206647 chr9 91606128 91606128 C T rs760866323 C9orf47 Nonsynonymous SNV P73L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.28 206648 chr5 118580201 118580201 C T DMXL1 Nonsynonymous SNV P2757L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 206649 chr6 33756537 33756537 G A rs570049008 LEMD2 Synonymous SNV G119G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.73 206650 chr2 197657753 197657753 G C rs148776344 GTF3C3 Nonsynonymous SNV P113R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.89 206651 chr19 7747434 7747434 G A rs539921515 TRAPPC5 Nonsynonymous SNV G99S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 206652 chr19 7974663 7974663 G A rs778375800 MAP2K7 Nonsynonymous SNV D50N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 206653 chr19 7975658 7975658 C A rs117765980 MAP2K7 Synonymous SNV P215P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 19.97 206654 chr16 84212813 84212813 G C rs373509211 TAF1C Nonsynonymous SNV P450A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.001 206655 chrX 47489029 47489029 C T rs374687577 CFP Nonsynonymous SNV G41S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 206656 chrX 100750050 100750050 G A ARMCX4 Synonymous SNV Q2158Q 0.001 0.005 0 0 1 2 0 0 0 1 0 0 2.194 206657 chr19 8212222 8212222 C T rs149095306 FBN3 Nonsynonymous SNV R48Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 206658 chr9 5231539 5231539 C T rs142741438 INSL4 Nonsynonymous SNV R6W 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 13.93 206659 chrX 103420490 103420490 C T FAM199X Synonymous SNV Y128Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.719 206660 chr5 131008584 131008584 C T rs115209326 FNIP1 Nonsynonymous SNV R490Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 206661 chrX 106843948 106843948 G T rs572795820 FRMPD3 Synonymous SNV L926L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 3.536 206662 chr16 84808824 84808824 C A rs774298 USP10 Synonymous SNV L734L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.21 206663 chrX 106845900 106845900 T A rs761112584 FRMPD3 Nonsynonymous SNV V1577E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 206664 chr7 149485557 149485557 C T rs73168056 SSPO 0.004 0.005 0.02 0 5 2 0 6 0 0 0 0 11.15 206665 chr7 149489529 149489529 C T rs190917823 SSPO 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.018 206666 chrX 129484693 129484693 C T rs145386095 SLC25A14 Synonymous SNV T127T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 17.03 206667 chrX 71823045 71823045 C T PHKA1 Nonsynonymous SNV M888I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 206668 chr5 137517326 137517326 C T rs373433800 KIF20A Nonsynonymous SNV T95I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.2 206669 chr5 137727751 137727751 G A rs144273490 KDM3B Synonymous SNV S810S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 7.924 206670 chr2 209180044 209180044 G A rs145916346 PIKFYVE Nonsynonymous SNV V652I 0.002 0.003 0 5 2 1 0.013 0 0 0 0 0 Benign 23.1 206671 chr5 138266164 138266164 G A rs28363488 CTNNA1 Synonymous SNV A188A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign/Likely benign 9.698 206672 chr2 210962891 210962891 G C rs764828359 KANSL1L Nonsynonymous SNV P490R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 206673 chrX 140994813 140994813 C G rs151321679 MAGEC1 Nonsynonymous SNV D541E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 206674 chr5 139743342 139743342 G A rs140990806 SLC4A9 Nonsynonymous SNV R370H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 206675 chr10 100904032 100904032 C T rs148098032 HPSE2 Synonymous SNV E191E 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 13.46 206676 chr16 89180833 89180833 A G ACSF3 Nonsynonymous SNV Y90C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 206677 chr10 103344623 103344623 A G POLL Synonymous SNV A209A 0 0.005 0 0 0 2 0 0 0 0 0 0 9.529 206678 chr6 46684223 46684223 G A rs189781341 PLA2G7 Nonsynonymous SNV R92C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.64 206679 chr10 103345904 103345904 C T rs201211517 POLL Nonsynonymous SNV S42N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.25 206680 chr9 96717402 96717402 G A BARX1 Synonymous SNV A9A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.49 206681 chr10 104176411 104176411 G C rs148295703 PSD Nonsynonymous SNV L129V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.79 206682 chr5 140603373 140603373 C A rs200816107 PCDHB14 Nonsynonymous SNV T99N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.4 206683 chr2 219696480 219696480 A T rs145686425 PRKAG3 Nonsynonymous SNV L5Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 206684 chr5 140799454 140799454 C T rs200254467 PCDHGB7 Synonymous SNV S676S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.56 206685 chr5 140856729 140856729 C A rs147392557 PCDHGC3 Nonsynonymous SNV A349D 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 206686 chr17 11593357 11593357 G A rs140079277 DNAH9 Synonymous SNV A1406A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.258 206687 chr7 2577816 2577816 G A rs61729932 BRAT1 Nonsynonymous SNV R610W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 206688 chr12 6080864 6080864 G A rs369629756 VWF Synonymous SNV Y2483Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.296 206689 chr17 12832255 12832255 G A rs750887287 ARHGAP44 Synonymous SNV Q158Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 206690 chr5 143571 143571 C G rs201197920 PLEKHG4B Synonymous SNV S588S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.56 206691 chr6 52696755 52696755 C T GSTA5 Nonsynonymous SNV R187K 0.001 0 0 0 1 0 0 0 0 0 0 0 25 206692 chr9 131418866 131418866 G C WDR34 Nonsynonymous SNV S47C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.2 206693 chrX 119066166 119066166 T G rs756692062 NKAP Nonsynonymous SNV K251Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.66 206694 chr5 145477786 145477786 T C rs771118603 PLAC8L1 Synonymous SNV T63T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.247 206695 chrX 39913270 39913270 A C BCOR Nonsynonymous SNV D1563E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 206696 chr2 227660453 227660453 T C IRS1 Nonsynonymous SNV Y1001C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.87 206697 chr5 148389866 148389866 G A rs193067884 SH3TC2 Synonymous SNV T1098T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 9.524 206698 chr5 148679101 148679101 G A AFAP1L1 Nonsynonymous SNV G16R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.27 206699 chr5 148695825 148695825 A T rs113355090 AFAP1L1 Nonsynonymous SNV D376V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 206700 chrX 140967007 140967007 T C rs773098833 MAGEC3 Nonsynonymous SNV L102S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.759 206701 chr12 6787517 6787517 G A rs190714570 ZNF384 Synonymous SNV G154G 0.003 0.01 0 1 4 4 0.003 0 0 0 0 0 6.769 206702 chr6 70639432 70639432 G A rs753339843 COL19A1 Nonsynonymous SNV R169H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 206703 chr5 149374515 149374515 A G rs75604916 TIGD6 Nonsynonymous SNV I466T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.085 206704 chr12 68708976 68708976 C G rs147359308 MDM1 Synonymous SNV V137V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.229 206705 chrX 50053143 50053143 A G CCNB3 Synonymous SNV S658S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 206706 chr19 11338101 11338101 C T rs772731799 DOCK6 Nonsynonymous SNV R956H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 206707 chr17 18145845 18145845 G A rs781626874 LLGL1 Nonsynonymous SNV A1007T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.765 206708 chr5 149749105 149749105 G A rs142965998 TCOF1 Synonymous SNV A193A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.41 206709 chr5 149759198 149759198 C T rs150515843 TCOF1 Nonsynonymous SNV P844L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.4 206710 chr17 19285106 19285106 C T rs192160574 MAPK7 Nonsynonymous SNV A358V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 206711 chr10 12043780 12043780 C A rs372035265 UPF2 Nonsynonymous SNV D517Y 0 0.005 0 0 0 2 0 0 0 0 0 0 25.4 206712 chr19 12885513 12885513 C T rs772988811 HOOK2 Synonymous SNV S58S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.81 206713 chr19 13008577 13008577 C T rs142553521 GCDH Synonymous SNV I381I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.51 206714 chrX 152991110 152991110 T G ABCD1 Nonsynonymous SNV F130C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 206715 chr19 14043653 14043653 G A rs139199705 PODNL1 Synonymous SNV G377G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.293 206716 chr10 123687426 123687426 G A ATE1 Synonymous SNV D13D 0 0.005 0 0 0 2 0 0 0 0 0 0 3.518 206717 chr10 123846972 123846972 C T rs981312019 TACC2 Nonsynonymous SNV L1653F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.485 206718 chrX 73815708 73815708 A G rs61760876 RLIM Synonymous SNV F35F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.653 206719 chrX 77912613 77912613 T C rs748276891 RTL3 Synonymous SNV E435E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 206720 chrX 15821838 15821838 A G ZRSR2 Synonymous SNV L77L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.31 206721 chrX 2773136 2773136 C T GYG2 Nonsynonymous SNV P143S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 206722 chr5 15936701 15936701 G A FBXL7 Synonymous SNV A247A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 206723 chr5 159492041 159492041 A G rs112449180 TTC1 Nonsynonymous SNV N283S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 206724 chr17 26881273 26881273 G A rs746392135 PIGS Nonsynonymous SNV R545C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 206725 chr10 13043303 13043303 T G rs779719549 CCDC3 Nonsynonymous SNV M90L 0 0.005 0 0 0 2 0 0 0 0 0 0 26.5 206726 chr7 55259433 55259433 C T rs371228501 EGFR Nonsynonymous SNV R564C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 206727 chr17 31099852 31099852 C G rs750222141 MYO1D Synonymous SNV V191V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 206728 chr17 3493219 3493219 A G rs745459272 TRPV1 Nonsynonymous SNV M309T 0 0 0.003 0 0 0 0 1 0 0 0 0 25 206729 chr10 11504572 11504572 G C USP6NL Synonymous SNV P802P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.114 206730 chr9 140409865 140409865 G A rs145715625 PNPLA7 Synonymous SNV P372P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.284 206731 chr10 115383390 115383390 C G rs780756076 NRAP Synonymous SNV L750L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.95 206732 chr10 22618261 22618261 G A BMI1, COMMD3-BMI1 Synonymous SNV K257K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.048 206733 chr10 25312336 25312336 G C rs765226752 THNSL1 Nonsynonymous SNV G62R 0 0.003 0 0 0 1 0 0 0 0 0 0 26 206734 chr10 25312399 25312399 G T rs778443651 THNSL1 Nonsynonymous SNV V83F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.17 206735 chr17 38555180 38555180 C T TOP2A Nonsynonymous SNV E1100K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 206736 chr7 82579540 82579540 C T rs756859068 PCLO Nonsynonymous SNV R3455Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 206737 chr13 113736779 113736779 C A rs201634776 MCF2L Nonsynonymous SNV H600Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.247 206738 chr5 32174131 32174131 G A rs748809830 GOLPH3 Synonymous SNV L4L 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 11.24 206739 chr10 3143194 3143194 T A rs766870299 PFKP 0 0.005 0 0 0 2 0 0 0 0 0 0 3.876 206740 chr5 35039464 35039464 G T rs201752897 AGXT2 Synonymous SNV S109S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.85 206741 chr5 35039555 35039555 G A rs150835438 AGXT2 Nonsynonymous SNV T79M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.11 206742 chr5 36677074 36677074 T C rs139342707 SLC1A3 Synonymous SNV N170N 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.126 206743 chr7 98785958 98785958 C T rs191355534 KPNA7 Nonsynonymous SNV V289I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 206744 chr7 99217526 99217526 C T rs538245713 ZSCAN25 Synonymous SNV Y99Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.98 206745 chr13 27829215 27829216 TG - rs544369675 SNORD102 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 206746 chr8 100883745 100883745 A G rs7844645 VPS13B Synonymous SNV S3880S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.278 206747 chr5 43277321 43277321 A G rs141294534 NIM1K Nonsynonymous SNV Y152C 0 0 0 1 0 0 0.003 0 0 0 0 0 27 206748 chr17 40075188 40075188 A G rs531158738 ACLY Nonsynonymous SNV I27T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.573 206749 chr8 104439332 104439332 A G rs755950053 DCAF13 Nonsynonymous SNV Y159C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 206750 chr10 115804005 115804005 G A rs369867546 ADRB1 Synonymous SNV P38P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.386 206751 chr17 42848988 42848988 C T ADAM11 Nonsynonymous SNV R140W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 206752 chr10 121612645 121612645 T C MCMBP Nonsynonymous SNV H164R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.13 206753 chr9 89560954 89560954 C T rs150545553 GAS1 Synonymous SNV E247E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.581 206754 chr9 89763752 89763752 T C rs749548130 C9orf170 0.001 0 0 0 1 0 0 0 0 0 0 0 1.024 206755 chr8 120886100 120886100 G A rs147235105 DEPTOR Nonsynonymous SNV G5D 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 23 206756 chr5 70806813 70806813 C G rs371417659 BDP1 Nonsynonymous SNV I1298M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.986 206757 chr10 5937050 5937051 AT - rs562885579 FBH1 Stop gain C19* 0 0.003 0 0 0 1 0 0 0 0 0 0 206758 chr10 5948044 5948044 A G rs752014466 FBH1 Nonsynonymous SNV K68E 0 0.005 0 0 0 2 0 0 0 0 0 0 7.338 206759 chr5 72333010 72333010 A G rs114375833 FCHO2 Synonymous SNV G261G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 8.576 206760 chr17 48247606 48247606 C T rs137852623 SGCA Nonsynonymous SNV R284C 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 35 206761 chr5 74518104 74518104 C T rs992284091 ANKRD31 Nonsynonymous SNV M86I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 206762 chr5 75003652 75003652 C T rs375200977 POC5 Nonsynonymous SNV E20K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 206763 chr10 6540501 6540501 T G rs773196997 PRKCQ Nonsynonymous SNV E8D 0 0.008 0 0 0 3 0 0 0 0 0 0 10.92 206764 chr19 38993329 38993329 G A rs151309597 RYR1 Synonymous SNV Q2599Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.347 206765 chr8 132988360 132988360 A G rs770392172 EFR3A Nonsynonymous SNV T380A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.145 206766 chr19 39070731 39070731 G A rs193922875 RYR1 Nonsynonymous SNV R4820H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.2 206767 chr13 97639880 97639880 A - rs145685926 OXGR1 L45Pfs*9 0.006 0.003 0 0 7 1 0 0 0 0 0 0 206768 chr2 85598248 85598248 G A rs371254266 ELMOD3 Nonsynonymous SNV A134T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 206769 chr19 40357663 40357663 C T rs75241092 FCGBP Nonsynonymous SNV R5217H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 14.96 206770 chr19 40363954 40363954 G A rs73554463 FCGBP Synonymous SNV S4896S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 7.241 206771 chr19 40366269 40366269 G A rs73554465 FCGBP Synonymous SNV T4655T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.552 206772 chr19 40367908 40367908 G A rs73558346 FCGBP Nonsynonymous SNV T4351I 0 0.008 0.007 0 0 3 0 2 0 1 1 0 19.82 206773 chr17 56435455 56435455 C T rs553934414 RNF43 Nonsynonymous SNV R434Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 206774 chr17 56573140 56573140 C T MTMR4 Nonsynonymous SNV G788D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 206775 chr19 41727872 41727872 C G rs200541897 AXL Nonsynonymous SNV P166R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 206776 chrX 131231309 131231309 C T rs747452860 FRMD7 Nonsynonymous SNV R75Q 0.004 0.003 0 2 5 1 0.005 0 1 0 0 1 14.96 206777 chr19 42128133 42128133 C T rs140151631 CEACAM4 Nonsynonymous SNV V25I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 206778 chr19 42132231 42132231 G A rs138355384 CEACAM4 Synonymous SNV C56C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.594 206779 chr19 42301685 42301685 A C rs61738270 CEACAM3 Nonsynonymous SNV S77R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.001 206780 chr17 62290990 62290990 C T rs111854160 TEX2 Synonymous SNV S196S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.286 206781 chr19 42301689 42301689 T A rs61738269 CEACAM3 Nonsynonymous SNV L78Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.015 206782 chr19 42301704 42301704 T C rs61737019 CEACAM3 Nonsynonymous SNV V83A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.001 206783 chr19 42301854 42301854 A G rs61736641 CEACAM3 Nonsynonymous SNV E133G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.2 206784 chr19 42301861 42301861 T C rs61736640 CEACAM3 Synonymous SNV T135T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.005 206785 chr19 42776485 42776485 G T rs576057417 CIC Nonsynonymous SNV G184C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 206786 chr19 43031434 43031434 T A rs140316654 CEACAM1 Nonsynonymous SNV Q61H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.704 206787 chr6 109471373 109471373 G A rs144264237 CEP57L1 Synonymous SNV K131K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 12.94 206788 chr6 109591374 109591374 G A rs73520752 CCDC162P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 3.818 206789 chr6 109818706 109818706 A G rs9487128 AK9 Synonymous SNV Y1759Y 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 0.082 206790 chr6 109885479 109885479 T C rs7753224 AK9 Synonymous SNV V813V 0.003 0.005 0 2 4 2 0.005 0 1 0 0 0 4.337 206791 chr6 111694841 111694841 G A rs576113461 REV3L Nonsynonymous SNV R1573W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 206792 chr6 11190859 11190859 G A rs61755989 NEDD9 Nonsynonymous SNV R266W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.61 206793 chr8 145140622 145140622 C T rs200059746 GPAA1 Nonsynonymous SNV A533V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.04 206794 chr10 96018598 96018598 G T PLCE1 Nonsynonymous SNV G891V 0 0.005 0 0 0 2 0 0 0 0 0 0 28.4 206795 chr19 45284505 45284505 C T rs137908794 CBLC Nonsynonymous SNV T181I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.52 206796 chr17 71824671 71824671 - T LINC00469 0 0 0.003 0 0 0 0 1 0 0 0 0 206797 chr8 145541620 145541620 G A rs782804473 DGAT1 Nonsynonymous SNV P271L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 206798 chr17 72249305 72249305 C G rs202095203 TTYH2 Nonsynonymous SNV Q128E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 206799 chr19 45494509 45494509 A G rs140564801 CLPTM1 Nonsynonymous SNV Y464C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 28.7 206800 chr8 145557279 145557279 G A rs782638614 SCRT1 Synonymous SNV N205N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.999 206801 chr19 45911565 45911565 C T rs201322262 CD3EAP Synonymous SNV G115G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.56 206802 chr8 145649263 145649263 G A rs781988369 VPS28 Synonymous SNV D197D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.558 206803 chrX 48929649 48929649 G A rs782678518 PRAF2 Nonsynonymous SNV S139L 0.002 0 0 0 2 0 0 0 1 0 0 0 28.7 206804 chr10 70513684 70513684 A G rs5030887 CCAR1 Synonymous SNV Q383Q 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 2.244 206805 chr7 20738172 20738172 C A rs750492137 ABCB5 Nonsynonymous SNV T273N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 206806 chrX 53573515 53573515 C T HUWE1 Synonymous SNV E3599E 0.002 0 0 0 2 0 0 0 1 0 0 0 14.81 206807 chrX 66765155 66765155 - GCAGCA AR L56_L57insQQ 0.002 0 0 0 2 0 0 0 1 0 0 0 206808 chrX 66765158 66765158 T A rs78686797 AR Nonsynonymous SNV L57Q 0.002 0 0 0 2 0 0 0 1 0 0 0 4.735 206809 chr8 19362958 19362958 T C rs762878018 CSGALNACT1 Nonsynonymous SNV K130E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 206810 chr14 24045289 24045300 CACCTCGCTGCT - rs923111223 JPH4 S249_V252del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 206811 chr6 136943986 136943986 C G MAP3K5 Nonsynonymous SNV R717T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 206812 chr17 7478113 7478113 C A rs117610271 SNORA48 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.77 206813 chr7 30536841 30536841 A G rs752271001 GGCT Nonsynonymous SNV M51T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.78 206814 chr19 49657756 49657756 C T rs772058121 HRC Nonsynonymous SNV D247N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.382 206815 chr10 81317810 81317810 C T SFTPA2 Nonsynonymous SNV G133E 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 22.5 206816 chr6 148864860 148864860 G A rs201267871 SASH1 Nonsynonymous SNV E513K 0 0 0 1 0 0 0.003 0 0 0 0 0 23 206817 chr17 78041408 78041408 C A rs151038976 CCDC40 Nonsynonymous SNV P556H 0.002 0.005 0.007 2 2 2 0.005 2 0 0 0 0 4.101 206818 chr17 78073423 78073423 T C rs750841136 CCDC40 Nonsynonymous SNV L1093P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 206819 chr10 88259572 88259572 G C WAPL Nonsynonymous SNV S476R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.19 206820 chr14 35480865 35480865 A C rs140228686 SRP54 Synonymous SNV I163I 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.02 206821 chr14 35592679 35592679 G A rs45583337 PRORP Synonymous SNV K76K 0.003 0.005 0 0 4 2 0 0 0 0 0 0 2.458 206822 chr19 50958773 50958773 C T rs201993299 MYBPC2 Nonsynonymous SNV T737M 0 0.003 0 0 0 1 0 0 0 0 0 0 27 206823 chr19 50971009 50971009 C A rs736769 FAM71E1 Nonsynonymous SNV S206I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.1 206824 chr6 152464785 152464785 C T rs374755363 SYNE1 Synonymous SNV P542P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Likely benign 16.77 206825 chr6 152570360 152570360 T C rs144762960 SYNE1 Nonsynonymous SNV N6432S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 0.004 206826 chr7 43687095 43687095 G A rs139471160 COA1 Synonymous SNV L52L 0.002 0 0.007 5 2 0 0.013 2 0 0 0 0 5.454 206827 chr6 152683397 152683397 C T rs116758271 SYNE1 Nonsynonymous SNV G3410S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.171 206828 chr3 135721085 135721085 A G rs115951794 PPP2R3A Nonsynonymous SNV I249V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 206829 chr10 64945379 64945381 AAC - JMJD1C V2039del 0 0.003 0 0 0 1 0 0 0 0 0 0 206830 chr19 51844469 51844469 G A rs760564636 VSIG10L Nonsynonymous SNV T278M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 206831 chr3 136708404 136708404 C G rs244405 IL20RB Synonymous SNV A176A 0.003 0.01 0.007 3 4 4 0.008 2 0 0 0 0 Benign 9.629 206832 chr17 79176085 79176085 G A rs369029870 CEP131 Nonsynonymous SNV T248M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.018 206833 chr10 69909844 69909844 C A rs147184158 MYPN Synonymous SNV I431I 0.006 0.005 0 0 7 2 0 0 0 0 0 0 Benign/Likely benign 19.34 206834 chr10 70190300 70190300 G A DNA2 Stop gain Q701X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 206835 chr8 53062315 53062315 C T rs376858481 ST18 Nonsynonymous SNV G677R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 206836 chr10 119043266 119043266 C T rs115994412 PDZD8 Nonsynonymous SNV R993Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 206837 chr17 80274680 80274680 C T rs11575046 CD7 Nonsynonymous SNV R87H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 206838 chr11 113258743 113258743 C T rs866481043 ANKK1 Nonsynonymous SNV T46M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.89 206839 chr8 57890619 57890619 G A rs778717032 IMPAD1 Synonymous SNV S212S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 206840 chr17 80616518 80616518 C T rs371784781 RAB40B Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.95 206841 chr10 72503847 72503847 G T ADAMTS14 Nonsynonymous SNV G695V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 31 206842 chr17 80789066 80789066 T G rs776384878 ZNF750 Nonsynonymous SNV Q422P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 206843 chr8 77765327 77765327 C A rs200704587 ZFHX4 Nonsynonymous SNV P2057Q 0.005 0 0 0 6 0 0 0 0 0 0 0 13.56 206844 chr6 168352694 168352694 C G rs775327784 AFDN Nonsynonymous SNV P1530A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 206845 chr18 13762121 13762121 - G rs762823719 RNMT Frameshift insertion T495Hfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 206846 chr8 8749920 8749920 G A rs142747070 MFHAS1 Nonsynonymous SNV R217W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 206847 chr6 169053903 169053903 G A rs529459047 SMOC2 Nonsynonymous SNV R427H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.59 206848 chr18 21752340 21752340 T C rs181245880 OSBPL1A Nonsynonymous SNV K221R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 206849 chr6 17514147 17514147 A G rs200156682 CAP2 Nonsynonymous SNV K174E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.5 206850 chr10 88423514 88423514 G A rs376580954 OPN4 Synonymous SNV K451K 0 0.008 0 0 0 3 0 0 0 0 0 0 5.893 206851 chr19 54963396 54963396 C T rs375245604 LENG8 Synonymous SNV A55A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.08 206852 chr7 77266355 77266355 T C rs368251629 PTPN12 Synonymous SNV N591N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.136 206853 chr8 95751703 95751703 C A rs144869202 DPY19L4 Nonsynonymous SNV Q136K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 206854 chr3 170584172 170584172 G A RPL22L1 Synonymous SNV D122D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 206855 chr8 99960464 99960464 - CCTCCCAGGGCCCTCTGGCCCAGGAGGATGAAGCGCGCCGGCTTCGCTCTTGCACG OSR2 Frameshift insertion A42Pfs*47 0.001 0 0 0 1 0 0 0 0 0 0 0 206856 chr8 99961162 99961162 A C rs186206047 OSR2 Synonymous SNV A115A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.52 206857 chr11 123484174 123484174 G A rs371958694 GRAMD1B Nonsynonymous SNV A496T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.114 206858 chr9 100965675 100965675 G C rs372872098 TBC1D2 Synonymous SNV A262A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.118 206859 chr6 24578382 24578382 G A rs768867895 KIAA0319 Synonymous SNV P442P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.036 206860 chr14 75230262 75230262 C G YLPM1 Nonsynonymous SNV P24A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.73 206861 chr19 55707965 55707965 G C PTPRH Nonsynonymous SNV P550A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.098 206862 chr7 90338875 90338875 G T rs16867927 CDK14 Nonsynonymous SNV C7F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 206863 chr19 55739562 55739562 G A TMEM86B Nonsynonymous SNV P98S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.591 206864 chr6 26443876 26443876 C T rs951351868 BTN3A3 Nonsynonymous SNV T25I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.55 206865 chr18 44140471 44140471 C T rs1036336850 LOXHD1 Nonsynonymous SNV R879Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 206866 chr18 44470697 44470697 G C rs115095049 PIAS2 Synonymous SNV S115S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 206867 chr11 124440375 124440375 C T rs760259966 OR8A1 Synonymous SNV Y120Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.558 206868 chr18 53696039 53696039 A - LOC642484 0 0 0.003 0 0 0 0 1 0 0 0 0 206869 chr11 10019820 10019821 AG - SBF2 L323Ffs*30 0 0.003 0 0 0 1 0 0 0 0 0 0 206870 chr19 57088472 57088472 G A rs190149064 ZNF470 Synonymous SNV K225K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.476 206871 chr18 5840807 5840807 A C rs925819730 MIR3976 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 206872 chr18 61156619 61156619 T C rs753105483 SERPINB5 Synonymous SNV L116L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.074 206873 chr18 61264593 61264593 C A rs199611833 SERPINB13 Nonsynonymous SNV P212H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 206874 chr11 1282674 1282674 C T rs779854108 MUC5B Nonsynonymous SNV R5709W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.51 206875 chr6 395923 395923 G A rs148022406 IRF4 Synonymous SNV S160S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.624 206876 chr6 39895090 39895090 G A rs762581549 MOCS1 Synonymous SNV L76L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.08 206877 chr3 19940924 19940924 G A rs149645821 EFHB Nonsynonymous SNV P501L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 206878 chr19 58967505 58967505 A C ZNF324B Synonymous SNV V398V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 206879 chr18 7231977 7231977 C A LRRC30 Nonsynonymous SNV P281T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 206880 chr11 122944317 122944317 G A rs372951042 CLMP Synonymous SNV A329A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.32 206881 chr3 37285184 37285184 G T rs1038633361 LOC152048 0 0 0 1 0 0 0.003 0 0 0 0 0 6.613 206882 chr3 38136373 38136373 C T rs375723640 DLEC1 Synonymous SNV H641H 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 15.49 206883 chr3 38173110 38173110 A G rs138567761 ACAA1 Synonymous SNV S141S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 206884 chr3 38318511 38318511 C T rs143948964 SLC22A13 Synonymous SNV Y485Y 0 0 0 2 0 0 0.005 0 0 0 0 0 12.65 206885 chr9 132816241 132816241 C A rs566413292 GPR107 Synonymous SNV P10P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 206886 chr6 7230222 7230222 C A RREB1 Synonymous SNV P630P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.398 206887 chr15 41803644 41803644 T A rs763473710 LTK Nonsynonymous SNV S264C 0.002 0.008 0.007 0 2 3 0 2 0 0 0 0 23 206888 chr11 130319576 130319576 G A rs779595110 ADAMTS15 Synonymous SNV A236A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.15 206889 chr15 42126936 42126937 AG - rs945988709 JMJD7, JMJD7-PLA2G4B 0.001 0.005 0 0 1 2 0 0 0 0 0 0 206890 chr19 13059567 13059567 C T rs767232396 RAD23A Synonymous SNV V180V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 206891 chr19 13256171 13256171 G T rs116545654 STX10 Nonsynonymous SNV S85R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 206892 chr11 116658572 116658572 G T ZPR1 Synonymous SNV T45T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.44 206893 chr10 72020427 72020427 C T rs199782769 NPFFR1 Nonsynonymous SNV V131I 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 23.4 206894 chr19 15133829 15133829 C T rs137956196 CCDC105 Synonymous SNV R466R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 206895 chr6 84922681 84922681 G A rs75948054 CEP162 Synonymous SNV L113L 0 0.005 0 1 0 2 0.003 0 0 1 0 0 11.83 206896 chr19 15466080 15466080 C G rs200362293 AKAP8 Synonymous SNV A575A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 206897 chr6 89907921 89907921 G A rs542316892 GABRR1 Synonymous SNV D113D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.95 206898 chr11 118984616 118984616 G A rs757458542 C2CD2L Nonsynonymous SNV R514H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 206899 chr20 23028550 23028550 G A rs756102720 THBD Nonsynonymous SNV A531V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 206900 chr20 23473642 23473642 C A rs138711661 CST8 Nonsynonymous SNV S93R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 28.5 206901 chr15 50152608 50152608 C T rs764517232 ATP8B4 Nonsynonymous SNV R1121H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 206902 chr11 120008278 120008278 G C rs59059947 TRIM29 Synonymous SNV P154P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.396 206903 chr20 25261734 25261734 C G PYGB Nonsynonymous SNV I463M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 206904 chr11 121039471 121039471 T C rs144343770 TECTA Nonsynonymous SNV Y1946H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 29.2 206905 chr20 31609529 31609529 C T rs747617309 BPIFB2 Nonsynonymous SNV A420V 0 0.005 0 0 0 2 0 0 0 0 0 0 24.6 206906 chr7 100421340 100421340 C T rs55866373 EPHB4 Nonsynonymous SNV V113I 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 25.2 206907 chr20 36776387 36776387 G A TGM2 Synonymous SNV Y138Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.528 206908 chr19 18170808 18170808 C T rs143367415 IL12RB1 Nonsynonymous SNV E627K 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.79 206909 chr11 2688325 2688325 A G rs113701963 KCNQ1OT1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.17 206910 chr20 37001733 37001733 G A rs763218293 LBP Synonymous SNV A426A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.858 206911 chr20 42164791 42164791 A C rs3746527 L3MBTL1 Synonymous SNV T570T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 206912 chr20 42169613 42169613 C G rs61736753 L3MBTL1 Nonsynonymous SNV L722V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.592 206913 chr3 57631400 57631400 C T rs150271072 DENND6A Nonsynonymous SNV R342H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 206914 chr9 20981542 20981542 C T rs117591845 FOCAD Nonsynonymous SNV P1499S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.054 206915 chr11 3249549 3249549 C T rs776083106 MRGPRE Nonsynonymous SNV A161T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.062 206916 chr19 18876306 18876306 C T rs138875847 CRTC1 Nonsynonymous SNV P327S 0 0 0.014 0 0 0 0 4 0 0 0 0 22.4 206917 chr19 18980132 18980132 G T GDF1 Nonsynonymous SNV F131L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 206918 chr9 27173340 27173340 A G rs770021561 TEK Nonsynonymous SNV K190R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.967 206919 chr10 95347195 95347195 G T rs201401423 FFAR4 Nonsynonymous SNV W305C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.9 206920 chr20 44569202 44569202 G A rs188509769 PCIF1 Nonsynonymous SNV R113Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.2 206921 chr20 44681699 44681699 C T rs368618520 SLC12A5 Synonymous SNV D850D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.83 206922 chr10 98182320 98182320 T A TLL2 Nonsynonymous SNV E268V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.1 206923 chr9 35910582 35910582 G A rs41302059 SPAAR Nonsynonymous SNV R41H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.87 206924 chr20 48552963 48552963 A G rs749499097 RNF114 Nonsynonymous SNV Q5R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 206925 chr19 2424251 2424251 G A TMPRSS9 Nonsynonymous SNV D871N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 206926 chr20 55027509 55027509 C T rs34899200 CASS4 Nonsynonymous SNV S372L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 18.49 206927 chr19 30303636 30303636 G A rs749045990 CCNE1 Nonsynonymous SNV A7T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.831 206928 chr20 55803440 55803440 G A rs149836190 BMP7 Synonymous SNV H152H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.617 206929 chr9 6550835 6550835 G T rs747336541 GLDC Nonsynonymous SNV T846K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 206930 chr7 101840016 101840016 C T rs782763123 CUX1 Nonsynonymous SNV A453V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.35 206931 chr4 103265758 103265758 A - SLC39A8 V21Gfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 206932 chr11 17981080 17981080 G A rs199646432 SERGEF Synonymous SNV L316L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.66 206933 chr7 123270150 123270150 G A ASB15 Stop gain W524X 0 0 0 1 0 0 0.003 0 0 0 0 0 44 206934 chr20 62229208 62229208 G C rs201568990 GMEB2 Nonsynonymous SNV D121E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.755 206935 chr9 97209197 97209197 T C rs751983042 MFSD14B Synonymous SNV S274S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.167 206936 chr9 99008889 99008902 AAGGTAAGCCCGAC - rs774017245 HSD17B3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 206937 chr11 4903643 4903643 G C OR51T1 Nonsynonymous SNV G172R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.108 206938 chr7 129950667 129950667 T C rs73721864 CPA4 Synonymous SNV H245H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.905 206939 chr19 38315798 38315798 T C rs561300834 LOC100631378 0 0 0.007 0 0 0 0 2 0 0 0 0 3.807 206940 chr11 31112984 31112984 A G rs150056724 DCDC1 Synonymous SNV A731A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.228 206941 chr21 28315707 28315707 T A ADAMTS5 Nonsynonymous SNV D466V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 206942 chrX 108718527 108718527 G A GUCY2F Synonymous SNV G213G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 206943 chr19 38956802 38956802 C T RYR1 Nonsynonymous SNV T981M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 206944 chrX 114426862 114426862 G A RBMXL3 Nonsynonymous SNV R953Q 0.003 0.003 0 2 4 1 0.005 0 1 0 0 1 19.34 206945 chr7 137642689 137642689 A G rs780866436 CREB3L2-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.397 206946 chr4 146695673 146695673 C T rs150430236 ZNF827 Nonsynonymous SNV G949S 0 0 0 2 0 0 0.005 0 0 0 0 0 17.03 206947 chr19 39868436 39868436 C T rs774389087 SAMD4B Synonymous SNV P472P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.21 206948 chr8 91643895 91643895 G A rs373266981 TMEM64 Nonsynonymous SNV S279L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 206949 chrX 149814260 149814260 C T rs187394611 MTM1 Synonymous SNV L261L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.37 206950 chrX 149839957 149839957 C T rs587783806 MTM1 Synonymous SNV Y567Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.146 206951 chr4 1643063 1643063 C T rs761689023 FAM53A Nonsynonymous SNV R385Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.94 206952 chr19 42856602 42856602 A T rs767539999 MEGF8 Nonsynonymous SNV N1048I 0 0 0.007 0 0 0 0 2 0 0 0 0 22.2 206953 chr19 42933054 42933054 G A rs150975680 CXCL17 Synonymous SNV S114S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 206954 chr11 5729814 5729814 A T rs769990292 TRIM22 Synonymous SNV T290T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.056 206955 chr11 57505124 57505124 G A rs775542534 TMX2 Nonsynonymous SNV M78I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 206956 chr16 19729256 19729256 A C rs563188786 KNOP1 Nonsynonymous SNV D49E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.402 206957 chrX 48895558 48895558 T C TFE3 Nonsynonymous SNV T183A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.3 206958 chr16 26147154 26147154 G C rs762212461 HS3ST4 Nonsynonymous SNV R319P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 206959 chr19 45996535 45996535 C T rs181791404 RTN2 Nonsynonymous SNV V306I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 206960 chr16 28883704 28883704 C T rs138360008 SH2B1 Synonymous SNV N233N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 5.787 206961 chr4 25819761 25819761 G A rs373099691 SEL1L3 Synonymous SNV T486T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 206962 chr16 30006513 30006513 T A HIRIP3 Nonsynonymous SNV D71V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.096 206963 chr22 19470327 19470327 G A rs769332983 CDC45 Nonsynonymous SNV V107I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.473 206964 chr22 19882946 19882946 G A rs187065627 TXNRD2 Synonymous SNV T311T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 12.78 206965 chrX 70471417 70471417 C T rs201097988 ZMYM3 Synonymous SNV P234P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 206966 chrX 71349942 71349942 G A rs750913102 RTL5 Synonymous SNV G483G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.588 206967 chr11 62297527 62297527 T C rs199906881 AHNAK Synonymous SNV P1454P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.022 206968 chr19 47909772 47909772 T C rs1048489196 MEIS3 Nonsynonymous SNV M347V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.07 206969 chrX 76937047 76937047 A C rs782816523 ATRX Nonsynonymous SNV V1196G 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Uncertain significance 21.3 206970 chrX 91456400 91456400 C T rs139061770 PCDH11X Synonymous SNV C1020C 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Likely benign 2.011 206971 chr19 49116516 49116516 C T FAM83E Synonymous SNV L38L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.31 206972 chr4 41984766 41984766 C G rs142055086 DCAF4L1 Synonymous SNV P319P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.83 206973 chr19 49657752 49657754 TCG - rs772883523 HRC D261del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 206974 chr11 65144484 65144484 C T rs375786817 SLC25A45 Nonsynonymous SNV A111T 0 0.005 0 0 0 2 0 0 0 0 0 0 5.196 206975 chr11 6244862 6244862 G A rs779192621 FAM160A2 Nonsynonymous SNV A252V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.3 206976 chr1 5927172 5927172 G A rs369021103 NPHP4 Nonsynonymous SNV A647V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 206977 chr19 5222830 5222830 C T rs571286007 PTPRS Synonymous SNV A969A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 206978 chr16 56901042 56901042 G A rs760308689 SLC12A3 Nonsynonymous SNV D115N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.4 206979 chr1 7792629 7792629 C T rs567046301 CAMTA1 Synonymous SNV S55S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 206980 chr11 640291 640291 C T DRD4 Synonymous SNV L348L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.19 206981 chr19 52941298 52941298 - A ZNF534 Frameshift insertion R168Kfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 206982 chr11 6644591 6644591 G A rs374270843 DCHS1 Synonymous SNV P2772P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.66 206983 chr11 64622108 64622108 G A rs142433533 EHD1 Synonymous SNV I434I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 9.524 206984 chr19 53384772 53384772 G A rs139347587 ZNF320 Nonsynonymous SNV H203Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.003 206985 chr1 11721315 11721315 G A rs200874938 FBXO44 Nonsynonymous SNV A210T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 206986 chr16 67220741 67220741 G C rs138835488 EXOC3L1 Nonsynonymous SNV A402G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.73 206987 chr16 67433293 67433293 C T rs116843861 ZDHHC1 Synonymous SNV K165K 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 16.82 206988 chr11 70282413 70282413 C T rs200495186 CTTN Nonsynonymous SNV R602W 0 0.005 0 0 0 2 0 0 0 0 0 0 22.4 206989 chr11 6662253 6662253 C T DCHS1 Nonsynonymous SNV G198S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.4 206990 chr9 15695231 15695231 A G rs990704795 CCDC171 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 206991 chr16 75148481 75148481 T A LDHD Nonsynonymous SNV E191V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.9 206992 chr11 75501748 75501748 G A rs781699415 DGAT2 Nonsynonymous SNV R91H 0 0.005 0 0 0 2 0 0 0 0 0 0 25.8 206993 chr16 75602072 75602072 C T rs746764553 GABARAPL2 Synonymous SNV I76I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.53 206994 chr7 73791084 73791084 G A rs199947783 CLIP2 Nonsynonymous SNV E750K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 206995 chr7 75912061 75912061 C G SRRM3 Nonsynonymous SNV S489W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 206996 chr19 56135916 56135916 C T ZNF784 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 206997 chr1 19493653 19493653 C A rs141088065 UBR4 Nonsynonymous SNV E1324D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 206998 chr7 80292417 80292417 G A CD36 Nonsynonymous SNV G26S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.6 206999 chr1 20975484 20975506 GCAGGTGTCCACGGCCCGTCCTG - rs748860758 PINK1 V418Afs*5 0.001 0 0.003 0 1 0 0 1 0 0 0 0 207000 chr19 56952711 56952711 T G rs771246629 ZNF667 Synonymous SNV G551G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.441 207001 chr1 21586831 21586831 C T rs150644074 ECE1 Nonsynonymous SNV R171H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 207002 chr11 88027593 88027593 T C CTSC Nonsynonymous SNV T325A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.522 207003 chr7 92020623 92020623 A C ANKIB1 Synonymous SNV V732V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.394 207004 chr9 4118354 4118354 G A GLIS3 Nonsynonymous SNV A220V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.823 207005 chr7 94228183 94228183 G C rs370800943 SGCE Nonsynonymous SNV T336R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 25.8 207006 chr16 85741642 85741644 TCT - rs914060090 C16orf74 D69del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 207007 chr7 97820971 97820971 C T rs149882695 LMTK2 Synonymous SNV P398P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.88 207008 chr1 24673057 24673057 G A rs138381915 GRHL3 Nonsynonymous SNV R444H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 207009 chr19 58864235 58864235 - C rs754768407 A1BG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 207010 chr7 97863169 97863169 G A rs375328294 TECPR1 Synonymous SNV S412S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.889 207011 chr16 88495831 88495831 G A rs564837770 ZNF469 Synonymous SNV P651P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.294 207012 chr11 792399 792399 C T rs201932343 SLC25A22 Nonsynonymous SNV R216H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 13.04 207013 chr19 6467803 6467803 T G rs771692049 DENND1C Synonymous SNV A662A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.187 207014 chrX 48925388 48925388 G A rs181634176 CCDC120 Nonsynonymous SNV A580T 0.001 0.005 0.01 1 1 2 0.003 3 0 1 1 0 8.984 207015 chr12 101685524 101685524 C T rs146584077 UTP20 Nonsynonymous SNV S299L 0 0.005 0 0 0 2 0 0 0 0 0 0 24.9 207016 chr11 85438320 85438320 C T SYTL2 Nonsynonymous SNV G694D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.31 207017 chr11 85593615 85593615 T C rs201110814 CCDC83 Synonymous SNV S80S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.877 207018 chr16 88789000 88789000 G A rs534283978 PIEZO1 Nonsynonymous SNV T1589I 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Likely benign 11.46 207019 chr19 813515 813515 G A PLPPR3 Synonymous SNV S432S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.428 207020 chr16 89662005 89662005 C G rs762615231 CPNE7 Synonymous SNV L511L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.839 207021 chr16 90099304 90099304 G A rs774706803 GAS8 Nonsynonymous SNV S73N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 207022 chrX 118985534 118985534 G A rs746711145 UPF3B Synonymous SNV Y98Y 0 0.005 0 0 0 2 0 0 0 1 0 0 5.839 207023 chr19 8550639 8550656 CGCATGGGCTCCGTGGAG - rs776785215 HNRNPM V312_S317del 0 0 0.003 0 0 0 0 1 0 0 0 0 207024 chr8 126069053 126069053 G A rs868134220 WASHC5 Stop gain Q480X 0 0 0 1 0 0 0.003 0 0 0 0 0 44 207025 chr19 899661 899661 C T rs375284516 R3HDM4 Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 207026 chr11 67219785 67219785 G A rs770786693 GPR152 Synonymous SNV H137H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 207027 chr17 12901788 12901788 T C ELAC2 Synonymous SNV G447G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.345 207028 chr12 101702005 101702005 C T rs373556740 UTP20 Nonsynonymous SNV R680C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 207029 chrX 140995814 140995814 T C rs150953847 MAGEC1 Nonsynonymous SNV V875A 0 0.005 0 0 0 2 0 0 0 1 0 0 0.009 207030 chrX 119387833 119387833 - TGATGATGA rs201958171 ZBTB33 D194_V195insDDD 0.001 0 0 0 1 0 0 0 0 0 0 0 207031 chr8 140898190 140898190 C T rs142048892 TRAPPC9 Synonymous SNV E987E 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.86 207032 chr1 880523 880523 A G rs761333411 NOC2L Nonsynonymous SNV I686T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 207033 chr11 56237212 56237212 G A rs143650339 OR5M3 Synonymous SNV I254I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.923 207034 chr1 52231494 52231494 G A rs761051902 OSBPL9 Nonsynonymous SNV G82D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 207035 chr5 148596546 148596546 A G rs148615457 ABLIM3 Nonsynonymous SNV T232A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 207036 chr8 144809436 144809436 G A FAM83H Nonsynonymous SNV T732I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.32 207037 chr8 144893221 144893221 C T rs146561937 SCRIB Synonymous SNV A376A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.619 207038 chr1 2522998 2522998 G A rs757809859 MMEL1 Synonymous SNV Y746Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.373 207039 chr1 3422706 3422706 G A rs200250415 MEGF6 Synonymous SNV C628C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.119 207040 chr17 27044427 27044427 C T RAB34 Synonymous SNV R100R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.66 207041 chrX 32583942 32583942 G A rs1800267 DMD Synonymous SNV L615L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 6.641 207042 chrX 32662355 32662355 T A rs34155804 DMD Nonsynonymous SNV T401S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign/Likely benign 8.415 207043 chrX 32716110 32716110 C T rs1800265 DMD Synonymous SNV T271T 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign/Likely benign 15.79 207044 chrX 47308257 47308257 G C ZNF41 Nonsynonymous SNV S218R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 207045 chr12 123889559 123889559 C T rs114151192 KMT5A Synonymous SNV Y154Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.1 207046 chr1 11106951 11106951 G A rs140239262 MASP2 Synonymous SNV V77V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Uncertain significance 10.18 207047 chr12 15070186 15070186 T - ERP27 Stop gain M67* 0 0.005 0 0 0 2 0 0 0 0 0 0 207048 chr17 33771990 33771990 A G rs141793885 SLFN13 Nonsynonymous SNV F237S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.1 207049 chr5 172110506 172110506 C T NEURL1B Nonsynonymous SNV A39V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 207050 chr12 13102547 13102547 T G GPRC5D Nonsynonymous SNV I258L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.7 207051 chr8 22487515 22487515 C T rs374810339 BIN3 Synonymous SNV V52V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.92 207052 chr12 133214619 133214619 C T rs114119067 POLE Nonsynonymous SNV V1887M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 207053 chr1 17559403 17559403 C T rs762194400 PADI1 Synonymous SNV P417P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 207054 chr1 17601263 17601263 T C rs140586422 PADI3 Nonsynonymous SNV I430T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 207055 chr1 92979393 92979393 C T EVI5 Synonymous SNV Q751Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 207056 chr1 19775381 19775381 A G rs550663221 CAPZB Nonsynonymous SNV F10L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.852 207057 chr8 28309856 28309856 T C rs75701777 FBXO16 Synonymous SNV A203A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.159 207058 chr12 107279773 107279773 A C rs779172831 RIC8B Nonsynonymous SNV T499P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 207059 chr1 104616163 104616163 C T rs940474560 LOC100129138 0.001 0 0 0 1 0 0 0 0 0 0 0 9.779 207060 chr1 108315414 108315414 T A VAV3 Nonsynonymous SNV E166D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 207061 chr1 109794785 109794785 C T rs117469174 CELSR2 Nonsynonymous SNV T695M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 207062 chr1 109815546 109815546 A G rs778920792 CELSR2 Synonymous SNV E2745E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.866 207063 chr8 38251643 38251643 C T rs1037902290 LETM2 Nonsynonymous SNV R130C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 207064 chr8 38285507 38285507 T G FGFR1 Nonsynonymous SNV N96H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.44 207065 chr8 39806686 39806686 T G rs769745295 IDO2 Nonsynonymous SNV M14R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 23.4 207066 chr1 110998877 110998877 G A rs142813074 PROK1 Synonymous SNV K74K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.983 207067 chr11 65392671 65392671 C T rs776624090 PCNX3 Synonymous SNV V983V 0.003 0 0 0 4 0 0 0 0 0 0 0 15.49 207068 chr1 24408671 24408671 C T rs144490337 MYOM3 Synonymous SNV P700P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.1 207069 chr8 53062374 53062374 T C rs181322200 ST18 Nonsynonymous SNV Y657C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 18.34 207070 chr11 65545651 65545651 C T rs139309519 AP5B1 Synonymous SNV P771P 0.005 0 0 0 6 0 0 0 0 0 0 0 10.84 207071 chr1 24447832 24447832 C T rs143412406 IL22RA1 Synonymous SNV P396P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 10.92 207072 chr8 56711716 56711716 G A rs768867285 TGS1 Nonsynonymous SNV V503I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.053 207073 chr1 154530935 154530935 C A rs549444803 UBE2Q1 Nonsynonymous SNV G32V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 207074 chr8 62415957 62415957 T C rs768329556 ASPH Synonymous SNV E717E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.104 207075 chr12 52307359 52307359 G A rs77341011 ACVRL1 Synonymous SNV S110S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.827 207076 chr1 117560092 117560092 C T rs369004537 CD101 Synonymous SNV L537L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 207077 chr1 117626751 117626751 A G rs147246961 TTF2 Nonsynonymous SNV Y672C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 207078 chr12 121154793 121154793 T C rs760470339 UNC119B Synonymous SNV S197S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.628 207079 chr17 41180660 41180660 T G rs746429943 RND2 Nonsynonymous SNV I216R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23.8 207080 chr11 67206419 67206419 G A rs746389657 CORO1B Nonsynonymous SNV S356L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.4 207081 chr1 147380823 147380823 T G rs80358202 GJA8 Nonsynonymous SNV I247M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.023 207082 chr1 15766999 15766999 A G rs536812916 CTRC Nonsynonymous SNV Q48R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 207083 chr8 90937336 90937336 A G OSGIN2 Nonsynonymous SNV Y409C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.678 207084 chr17 42458407 42458407 G A rs779910477 ITGA2B Synonymous SNV Y411Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.106 207085 chr12 123028790 123028790 G A rs759320142 KNTC1 Nonsynonymous SNV A215T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.79 207086 chr17 42990768 42990768 G A GFAP Stop gain R217X 0.003 0.005 0 0 3 2 0 0 0 0 0 0 36 207087 chr12 49308201 49308201 C A rs377105204 CCDC65 Nonsynonymous SNV D105E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.67 207088 chr1 38446311 38446311 T C rs753246301 SF3A3 Nonsynonymous SNV I160V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.236 207089 chr9 101818663 101818663 G A rs371436097 COL15A1 Nonsynonymous SNV G1105E 0 0 0.01 1 0 0 0.003 3 0 0 0 0 25 207090 chr17 46882225 46882225 C T rs199846678 TTLL6 Nonsynonymous SNV V78I 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 0.001 207091 chr12 52754734 52754734 C T KRT85 Nonsynonymous SNV G264D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 207092 chr12 133159794 133159794 G A rs568962900 FBRSL1 Synonymous SNV K856K 0 0.005 0 0 0 2 0 0 0 0 0 0 9.967 207093 chr9 111625607 111625607 C T ACTL7A Synonymous SNV L335L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.46 207094 chr1 167095061 167095061 G A rs142451756 DUSP27 Synonymous SNV R231R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 207095 chr12 133277889 133277889 G A rs201941075 PXMP2 Synonymous SNV A151A 0 0.005 0 0 0 2 0 0 0 0 0 0 11.01 207096 chr10 17362976 17362976 T C rs145026083 ST8SIA6 Synonymous SNV K366K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.302 207097 chr1 156640294 156640294 A G rs200819284 NES Nonsynonymous SNV L1229P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.21 207098 chr12 15095582 15095582 C T rs139160089 ARHGDIB Synonymous SNV E160E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.1 207099 chr10 25284643 25284643 C - ENKUR D65Ifs*15 0.001 0.003 0 0 1 1 0 0 0 0 0 0 207100 chr1 158389757 158389757 A T rs143743518 OR10K2 Synonymous SNV A300A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 207101 chr1 47882606 47882606 G A rs560327746 FOXE3 Nonsynonymous SNV G207R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.7 207102 chr1 173702931 173702931 G A KLHL20 Nonsynonymous SNV E35K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 207103 chr10 28971295 28971295 A T BAMBI Nonsynonymous SNV M250L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.5 207104 chr12 53346116 53346116 G A rs746093574 KRT18 Nonsynonymous SNV E388K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 207105 chr1 51754579 51754579 C T rs758401319 TTC39A Synonymous SNV L91L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.3 207106 chr5 98192305 98192305 G A rs141316125 CHD1 Nonsynonymous SNV R1638W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 207107 chr12 7023103 7023103 C T rs143606018 LRRC23 Synonymous SNV S269S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 4.977 207108 chr12 7026786 7026786 G A rs374122047 ENO2 Nonsynonymous SNV V118M 0 0.005 0 0 0 2 0 0 0 0 0 0 29.8 207109 chr1 53556345 53556345 C T rs755953710 SLC1A7 Nonsynonymous SNV A317T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 207110 chr12 283889 283889 C T rs201348490 IQSEC3 Nonsynonymous SNV P1080L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 19.49 207111 chr9 121929640 121929640 G A BRINP1 Nonsynonymous SNV R670C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 207112 chr12 72020108 72020108 T C rs202039441 ZFC3H1 Nonsynonymous SNV K1417E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 207113 chr1 179041168 179041168 C T rs202186782 FAM20B Synonymous SNV D373D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 207114 chr1 160849119 160849119 G A rs775213161 ITLN1 Synonymous SNV T257T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.895 207115 chr1 161199704 161199704 C T rs36017137 NR1I3 Synonymous SNV A242A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 13.6 207116 chr1 161677105 161677105 T C rs2298025 FCRLA Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 207117 chr12 313794 313794 C T rs376674831 SLC6A12 Synonymous SNV A95A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.56 207118 chr12 57111331 57111331 G A rs376361769 NACA Nonsynonymous SNV P1328L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.697 207119 chr12 57921401 57921401 C T rs760826417 MBD6 Nonsynonymous SNV P732S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.2 207120 chr1 64644148 64644148 G A rs201485634 ROR1 Synonymous SNV P808P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.176 207121 chr1 185966630 185966630 G A rs201162031 HMCN1 Nonsynonymous SNV R1283H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 207122 chr1 65348981 65348981 T C rs202021264 JAK1 Nonsynonymous SNV I62V 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 10.35 207123 chr1 186136023 186136023 G A rs777607843 HMCN1 Nonsynonymous SNV V5175I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 207124 chr9 127652727 127652727 C G rs78804812 GOLGA1 Nonsynonymous SNV V480L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.12 207125 chr1 1861694 1861694 C T rs750605404 CFAP74 Synonymous SNV T1031T 0.002 0.003 0.003 3 2 1 0.008 1 0 0 0 0 10.22 207126 chr6 117678001 117678001 C T rs62430836 ROS1 Nonsynonymous SNV R1311Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.799 207127 chr12 8995849 8995849 C T rs200983183 A2ML1 Synonymous SNV H456H 0 0.008 0 0 0 3 0 0 0 0 0 0 Likely benign 5.922 207128 chr1 172558426 172558426 C G rs757063370 SUCO Nonsynonymous SNV L166V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 207129 chr12 45823017 45823017 A G rs59243955 ANO6 Nonsynonymous SNV M886V 0 0.005 0 0 0 2 0 0 0 0 0 0 11.48 207130 chr12 45833691 45833691 G A rs111621888 ANO6 Synonymous SNV P920P 0 0.005 0 0 0 2 0 0 0 0 0 0 2.867 207131 chr1 19201007 19201007 G C rs760227262 ALDH4A1 Nonsynonymous SNV S459C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.6 207132 chr1 176661302 176661302 C T rs773129615 PAPPA2 Synonymous SNV A824A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 207133 chr9 131019933 131019933 G T rs116991188 GOLGA2 Synonymous SNV R850R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.189 207134 chr9 131022759 131022759 G A rs751085984 GOLGA2 Synonymous SNV S542S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.35 207135 chr12 670531 670531 G A rs141142525 B4GALNT3 Nonsynonymous SNV V971M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.6 207136 chr1 181021373 181021373 C T rs149433107 MR1 Nonsynonymous SNV P158S 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 21.1 207137 chr12 49448425 49448425 C T rs763699658 KMT2D Nonsynonymous SNV V96M 0 0.005 0 0 0 2 0 0 0 0 0 0 14.25 207138 chr1 201176575 201176575 G A rs764643976 IGFN1 Nonsynonymous SNV A852T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 207139 chr12 7310181 7310181 G A rs199822119 CLSTN3 Nonsynonymous SNV R875H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.6 207140 chr6 139094954 139094954 C T rs370730169 CCDC28A Nonsynonymous SNV A48V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 15.07 207141 chr6 139164200 139164200 C T rs184795504 ECT2L Nonsynonymous SNV R143C 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 24.3 207142 chr6 139609841 139609841 T A rs199831757 TXLNB Nonsynonymous SNV I66F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 207143 chr12 51497483 51497483 T C TFCP2 Nonsynonymous SNV T293A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.3 207144 chr1 201022391 201022391 G A rs990173222 CACNA1S Synonymous SNV Y1269Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.747 207145 chr1 100368341 100368341 A C AGL Nonsynonymous SNV K1231Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 207146 chr17 7366355 7366369 TCCTCCTCCTCTTCG - rs544254340 ZBTB4 D644_E648del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 207147 chr9 136594903 136594903 C T rs759296197 SARDH Nonsynonymous SNV R300H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 207148 chr17 74006210 74006210 G A rs941384274 EVPL Nonsynonymous SNV P1048S 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 25.3 207149 chr1 201191943 201191943 C T rs574224409 IGFN1 Synonymous SNV P3426P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 207150 chr9 138650352 138650352 G A rs773023899 KCNT1 Synonymous SNV T236T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.12 207151 chr9 138676678 138676678 C T rs377554985 KCNT1 Synonymous SNV S988S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.2 207152 chr9 139273599 139273600 AC - rs750066279 SNAPC4 S894Gfs*145 0 0 0 1 0 0 0.003 0 0 0 0 0 207153 chr1 210016948 210016948 C T rs757269793 UTP25 Nonsynonymous SNV T645M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 207154 chr1 203055038 203055038 C T MYOG Nonsynonymous SNV D18N 0.001 0 0 0 1 0 0 0 0 0 0 0 22 207155 chr1 21183933 21183933 C T rs758506556 EIF4G3 Nonsynonymous SNV R1045Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 207156 chr12 53876863 53876863 C T rs766432155 MAP3K12 Nonsynonymous SNV R575H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 34 207157 chr6 160481583 160481583 C T rs200331891 IGF2R Synonymous SNV T1032T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.48 207158 chr12 124846694 124846694 C T rs35024414 NCOR2 Synonymous SNV P1008P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.02 207159 chr17 76969261 76969261 C A rs79400297 LGALS3BP Synonymous SNV S140S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 12.86 207160 chr1 216538325 216538325 C A rs777682016 USH2A Nonsynonymous SNV G252C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 207161 chr12 56748347 56748347 C T rs200581403 STAT2 Nonsynonymous SNV E229K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 207162 chr12 131590377 131590377 G A rs181364296 ADGRD1 Synonymous SNV L618L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.301 207163 chr1 120479986 120479986 C T rs371875533 NOTCH2 Synonymous SNV E1147E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.11 207164 chr9 140772450 140772450 G - CACNA1B G23Afs*78 0 0 0 1 0 0 0.003 0 0 0 0 0 207165 chr9 140777253 140777253 A G rs201063556 CACNA1B Nonsynonymous SNV I150V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.283 207166 chr12 133291542 133291542 C T rs780107763 PGAM5 Nonsynonymous SNV T97M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 207167 chr9 14841529 14841529 A G FREM1 Synonymous SNV R599R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.64 207168 chr9 15225977 15225977 A C rs986953320 TTC39B Synonymous SNV L103L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 207169 chr1 150307457 150307457 G A rs80201355 PRPF3 Synonymous SNV E260E 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.876 207170 chr6 24865582 24865582 C G rs755379919 RIPOR2 Nonsynonymous SNV A200P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 207171 chr9 26892479 26892479 C T CAAP1 Nonsynonymous SNV V79M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 207172 chr13 48575326 48575326 G A rs368407554 SUCLA2 Nonsynonymous SNV A27V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.82 207173 chr12 66717909 66717909 C T rs746415381 HELB Nonsynonymous SNV T815M 0 0.005 0 0 0 2 0 0 0 0 0 0 9.041 207174 chr13 48657544 48657544 C T rs148354559 MED4 Synonymous SNV A82A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 18.84 207175 chr17 7989472 7989472 C A ALOX12B Stop gain E72X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 37 207176 chr1 152080820 152080820 C G rs199684586 TCHH Nonsynonymous SNV E1625Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 207177 chr6 26368877 26368877 C G rs755728551 BTN3A2 Nonsynonymous SNV T57S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 207178 chr1 229637766 229637766 C T NUP133 Nonsynonymous SNV A129T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.36 207179 chr1 230829043 230829043 A G rs760376170 COG2 Synonymous SNV Q706Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.132 207180 chr9 35869461 35869461 C T OR13J1 Synonymous SNV X313X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.78 207181 chr6 33654286 33654286 T C ITPR3 Nonsynonymous SNV L1990P 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 207182 chr1 231954899 231954899 A G rs138155658 TSNAX-DISC1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.885 207183 chr9 37422763 37422763 C T rs147185003 GRHPR Nonsynonymous SNV L6F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 22.7 207184 chr6 35086050 35086050 - C rs866014199 TCP11 Frameshift insertion V362Gfs*61 0 0 0 1 0 0 0.003 0 0 0 0 0 207185 chr1 233190016 233190016 C T rs200221183 PCNX2 Nonsynonymous SNV R1450Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 207186 chr1 155289424 155289424 A C rs2229578 FDPS Nonsynonymous SNV E119A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 207187 chr1 234367264 234367264 C G rs34032258 SLC35F3 Nonsynonymous SNV R60G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.072 207188 chr13 99853192 99853192 C T rs1011473809 UBAC2 Synonymous SNV L10L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.96 207189 chr1 228452050 228452050 A G rs778841937 OBSCN Nonsynonymous SNV K1607E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 7.635 207190 chr12 8211436 8211436 G A rs147364129 C3AR1 Nonsynonymous SNV S449F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 207191 chr1 156498307 156498307 G T rs150194624 IQGAP3 Nonsynonymous SNV A1556D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 207192 chr6 39881172 39881172 C T rs201334190 MOCS1 Nonsynonymous SNV V129M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 207193 chr14 104206481 104206481 C A PPP1R13B Nonsynonymous SNV V758L 0 0.005 0 0 0 2 0 0 0 0 0 0 11.22 207194 chr14 104641532 104641532 C T rs201126105 KIF26A Nonsynonymous SNV R803W 0 0.005 0 0 0 2 0 0 0 0 0 0 32 207195 chr1 243471294 243471294 C T rs138449445 SDCCAG8 Synonymous SNV N150N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.01 207196 chr1 235652524 235652524 C T B3GALNT2 Nonsynonymous SNV E104K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 207197 chr12 97339532 97339532 C T rs765450095 NEDD1 Synonymous SNV A483A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.21 207198 chr14 105858016 105858016 C T PACS2 Nonsynonymous SNV T633I 0 0.005 0 0 0 2 0 0 0 0 0 0 26.4 207199 chr14 20528910 20528910 C T rs369685390 OR4L1 Nonsynonymous SNV A236V 0 0.005 0 0 0 2 0 0 0 0 0 0 26.7 207200 chr1 160604544 160604544 G C rs201481918 SLAMF1 Nonsynonymous SNV P187A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 207201 chr11 118452013 118452013 G A ARCN1 Nonsynonymous SNV R19Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 207202 chr9 99797839 99797839 C A rs146994010 CTSV Nonsynonymous SNV G253V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.8 207203 chr1 167830227 167830227 A G rs79478706 ADCY10 Nonsynonymous SNV V411A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 207204 chr14 103410715 103410715 C T rs141912309 CDC42BPB Synonymous SNV P1307P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.795 207205 chr11 122650362 122650362 A G rs761053902 UBASH3B Nonsynonymous SNV K152R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.23 207206 chrX 119500459 119500459 T C rs2072452 ATP1B4 Nonsynonymous SNV V48A 0.001 0.005 0 1 1 2 0.003 0 0 1 0 0 0.001 207207 chr14 23866252 23866252 G A rs145613682 MYH6 Synonymous SNV R696R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.77 207208 chr1 176525618 176525618 G A rs376329587 PAPPA2 Nonsynonymous SNV A54T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.738 207209 chr2 8910943 8910943 A T KIDINS220 Nonsynonymous SNV N957K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 207210 chr1 179320492 179320492 G T rs189625699 SOAT1 Synonymous SNV P439P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.108 207211 chr14 24800266 24800266 G A rs139243529 ADCY4 Synonymous SNV L296L 0 0.005 0 0 0 2 0 0 0 0 0 0 10.47 207212 chr14 24838928 24838928 C T rs114908477 NFATC4 Synonymous SNV G108G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 13.43 207213 chr1 32264131 32264131 G A SPOCD1 Nonsynonymous SNV A140V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 207214 chr1 180243593 180243593 C T rs200119009 LHX4 Nonsynonymous SNV T351M 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 23.2 207215 chr1 33236673 33236673 G A rs185441460 KIAA1522 Synonymous SNV T572T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.891 207216 chr2 15468426 15468426 C T rs148644578 NBAS Nonsynonymous SNV C1453Y 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Likely benign 0.054 207217 chr2 15519824 15519824 C T NBAS Synonymous SNV R1164R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 207218 chr1 183262918 183262918 C T rs774098646 NMNAT2 Synonymous SNV R32R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 207219 chr1 35881239 35881239 C T ZMYM4 Synonymous SNV T1087T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 207220 chr1 36641946 36641946 G A MAP7D1 Nonsynonymous SNV G296S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.446 207221 chr2 20137705 20137705 C T rs74470618 WDR35 Nonsynonymous SNV R689H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 207222 chr1 193050611 193050611 G A RO60 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 207223 chr1 38397641 38397641 G A rs1002744888 INPP5B Nonsynonymous SNV P137L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.45 207224 chr2 23926150 23926150 G A rs200550072 KLHL29 Nonsynonymous SNV V734M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 207225 chr13 50126329 50126329 G A rs766245043 RCBTB1 Synonymous SNV S232S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.71 207226 chrX 153735193 153735193 G A rs200836674 FAM3A Synonymous SNV P197P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 10.67 207227 chr13 51417354 51417354 C A DLEU7 Nonsynonymous SNV Q143H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 207228 chr1 200635067 200635067 C T rs143810968 DDX59 Nonsynonymous SNV E268K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.18 207229 chr12 6935375 6935375 G A rs138546589 GPR162 Nonsynonymous SNV D74N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 207230 chr12 6954865 6954865 G A GNB3 Nonsynonymous SNV G271D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 207231 chr13 60584746 60584746 C T rs200982440 DIAPH3 Nonsynonymous SNV V14M 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 18.38 207232 chrX 24006158 24006158 C T rs149191178 KLHL15 Synonymous SNV P565P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.51 207233 chr12 7045778 7045778 C T ATN1 Nonsynonymous SNV R450C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 207234 chr2 27360965 27360965 G C rs144004044 PRR30 Stop gain S78X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 207235 chr13 93518681 93518681 G C GPC5 Nonsynonymous SNV G570R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.917 207236 chr1 202287739 202287739 G A rs145532673 LGR6 Nonsynonymous SNV A631T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.7 207237 chr1 47078600 47078600 C T rs748534010 MOB3C Nonsynonymous SNV E184K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 207238 chr1 47717518 47717518 C T rs201354921 STIL Nonsynonymous SNV G1053S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.1 207239 chr1 205273347 205273347 G A rs768146177 NUAK2 Nonsynonymous SNV S373L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 207240 chr2 39008935 39008935 A G GEMIN6 Nonsynonymous SNV I135M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 207241 chrX 55513720 55513720 G A rs145461643 USP51 Synonymous SNV D551D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.033 207242 chrX 55514955 55514955 G A USP51 Nonsynonymous SNV P140S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.399 207243 chr1 52822674 52822674 T A rs751315875 CC2D1B Nonsynonymous SNV E626V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 207244 chrX 63444902 63444902 T G rs755294720 ASB12 Nonsynonymous SNV N210T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 207245 chr14 104569928 104569928 C T rs111758905 ASPG Synonymous SNV D223D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.03 207246 chr14 104641688 104641688 G A rs369714040 KIF26A Nonsynonymous SNV E855K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 207247 chr14 51348345 51348345 G T rs138523238 ABHD12B 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 207248 chrX 71427163 71427163 G A rs762834270 ERCC6L Nonsynonymous SNV S485L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 207249 chr1 210411343 210411343 C G rs144468837 SERTAD4 Nonsynonymous SNV P13R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 207250 chrX 74284996 74284996 T C rs1340990 ABCB7 Synonymous SNV A540A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 3.052 207251 chrX 74284997 74284997 G A rs1340989 ABCB7 Nonsynonymous SNV A540V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.7 207252 chr2 48873725 48873725 A G rs368382066 GTF2A1L, STON1-GTF2A1L Synonymous SNV Q140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.802 207253 chr14 53619480 53619480 - GCCGCCGCCGCCGCC rs140904345 DDHD1 G112_S113insGGGGG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 207254 chrX 84563194 84563194 C A POF1B Nonsynonymous SNV R329L 0 0.005 0 1 0 2 0.003 0 0 1 0 0 31 207255 chr2 55195331 55195331 T A rs1047958423 EML6 Nonsynonymous SNV C1889S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 207256 chr11 31086116 31086116 T G rs769562644 DCDC1 Nonsynonymous SNV T831P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.3 207257 chr1 219385003 219385003 C G rs146719365 LYPLAL1 Nonsynonymous SNV T165S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 207258 chr14 91369271 91369271 G C rs780955166 RPS6KA5 Nonsynonymous SNV P115A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.9 207259 chr11 4141104 4141104 G A rs370032433 RRM1 Synonymous SNV P52P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.45 207260 chr14 92403294 92403294 C T rs61734479 FBLN5 Nonsynonymous SNV V126M 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 207261 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAA 0.002 0.005 0 0 2 2 0 0 0 0 0 0 207262 chr2 73452814 73452814 G A rs764955963 SMYD5 Nonsynonymous SNV R364H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 207263 chr14 21771644 21771644 G C rs760211909 RPGRIP1 Nonsynonymous SNV D248H 0 0.005 0 0 0 2 0 0 0 0 0 0 25.8 207264 chr2 74683033 74683033 G A INO80B Nonsynonymous SNV V114I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 207265 chr11 45924581 45924581 G A rs373370991 MAPK8IP1 Synonymous SNV S421S 0.002 0.01 0 2 2 4 0.005 0 0 0 0 0 11.5 207266 chr11 46406905 46406905 C G rs200209431 CHRM4 Synonymous SNV T401T 0.002 0.01 0 3 2 4 0.008 0 0 0 0 0 6.081 207267 chr2 80530523 80530523 C T LRRTM1 Nonsynonymous SNV S141N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 207268 chr1 228474035 228474035 C T rs773744818 OBSCN Synonymous SNV A3087A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 207269 chr2 85981738 85981738 A T ATOH8 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 207270 chr7 123517187 123517187 G T rs781387294 HYAL4 Nonsynonymous SNV S475I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 207271 chr10 116207696 116207696 C T rs145263500 ABLIM1 Nonsynonymous SNV E183K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23 207272 chr14 96848839 96848839 C T rs370318470 GSKIP Synonymous SNV L85L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 207273 chr19 18702984 18702984 C T rs200426561 REX1BD Synonymous SNV A200A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.9 207274 chr15 101114236 101114236 G C rs779725468 LINS1 Nonsynonymous SNV S281C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 24.8 207275 chr2 97007629 97007629 G A rs143114089 NCAPH Nonsynonymous SNV S79N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.062 207276 chr19 20229913 20229913 C G rs200108585 ZNF90 Nonsynonymous SNV A517G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 207277 chr10 121436207 121436207 T C rs763427403 BAG3 Nonsynonymous SNV S381P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 3.468 207278 chr10 121587061 121587061 T A rs748755936 INPP5F Synonymous SNV T446T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.783 207279 chr10 121587062 121587062 C A rs778602876 INPP5F Nonsynonymous SNV P447T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 207280 chr10 121587065 121587065 T C rs148162878 INPP5F Nonsynonymous SNV S448P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 207281 chr19 2111803 2111803 T G rs201127154 AP3D1 Nonsynonymous SNV K876Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.415 207282 chr1 94338755 94338755 C T rs745621233 DNTTIP2 Nonsynonymous SNV V608I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 207283 chr7 132990794 132990794 A G rs764055707 EXOC4 Nonsynonymous SNV N212S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.161 207284 chr14 88652296 88652296 A G rs755494867 KCNK10 Synonymous SNV F400F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.71 207285 chr1 94965170 94965170 G A rs775452501 ABCD3 Synonymous SNV A580A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.234 207286 chr10 127461314 127461314 G A rs370234822 MMP21 Nonsynonymous SNV H235Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 207287 chr10 13228194 13228194 G A rs779768919 MCM10 Nonsynonymous SNV V377I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.15 207288 chr7 139719830 139719830 G A rs753638314 TBXAS1 Nonsynonymous SNV R457H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 207289 chr15 41191753 41191753 G T VPS18 Nonsynonymous SNV G246V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.62 207290 chr7 140179085 140179085 C A MKRN1 Synonymous SNV A20A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.6 207291 chr7 140287471 140287471 C T rs375197864 DENND2A Nonsynonymous SNV V369I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 13.91 207292 chr20 17943530 17943530 G A rs201335252 SNORD17 0 0 0.007 0 0 0 0 2 0 0 0 0 14.44 207293 chr20 18038203 18038203 T C rs73252035 OVOL2 Nonsynonymous SNV K26E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.775 207294 chr20 18361435 18361435 - CTAGAAG rs148073559 LINC00851 0 0 0.003 0 0 0 0 1 0 0 0 0 207295 chr7 141478953 141478953 C T rs143483580 TAS2R4 Nonsynonymous SNV T222M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.838 207296 chr20 19698204 19698204 C T rs753628756 SLC24A3 Synonymous SNV S584S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 207297 chr7 141619405 141619405 C T rs202084971 OR9A4 Nonsynonymous SNV H244Y 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 27.4 207298 chr15 42143552 42143552 A G rs368601952 SPTBN5 Nonsynonymous SNV W3558R 0 0.005 0 0 0 2 0 0 0 0 0 0 13.67 207299 chr20 20552586 20552586 C T rs6112939 RALGAPA2 Nonsynonymous SNV R969Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 207300 chr15 101718677 101718677 A G rs148193087 CHSY1 Nonsynonymous SNV M442T 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 Benign/Likely benign 19.41 207301 chr11 533546 533546 G A rs111352454 HRAS Nonsynonymous SNV T13I 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 10.44 207302 chr20 23065968 23065968 G C rs757186357 CD93 Nonsynonymous SNV R288G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.2 207303 chr15 25222973 25222973 G A SNRPN Nonsynonymous SNV A157T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.54 207304 chr20 24944658 24944658 G C rs764683989 APMAP Nonsynonymous SNV L348V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 207305 chr2 136566631 136566631 C T rs146467199 LCT Nonsynonymous SNV A1096T 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Uncertain significance 0.448 207306 chr2 136575505 136575505 C T rs148142216 LCT Synonymous SNV R371R 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 Likely benign 7.479 207307 chr20 3145195 3145195 C A rs144495581 LZTS3 Nonsynonymous SNV A643S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.748 207308 chr15 40510764 40510764 G A BUB1B 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 26 207309 chr20 33588858 33588858 A C rs191392262 MYH7B Nonsynonymous SNV K1833T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.4 207310 chr15 52571144 52571144 G A rs370174795 MYO5C Synonymous SNV Y125Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.805 207311 chr2 152563484 152563484 T C rs1053530676 NEB Nonsynonymous SNV N355D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 207312 chr20 34067203 34067203 G A rs754323656 CEP250 Nonsynonymous SNV V116M 0 0 0.007 0 0 0 0 2 0 0 0 0 10.73 207313 chr15 41099960 41099960 G A rs771027209 ZFYVE19 Nonsynonymous SNV G58E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 13.69 207314 chr7 151092884 151092884 C T rs202127341 WDR86 Nonsynonymous SNV R235Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.65 207315 chr2 21224721 21224721 T C APOB Nonsynonymous SNV I4525V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 207316 chr20 43374639 43374639 G C rs752969047 KCNK15 Nonsynonymous SNV E30Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 207317 chr2 25965297 25965297 G A rs370518430 ASXL2 Synonymous SNV H1043H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.898 207318 chr2 167297952 167297952 C T rs762383719 SCN7A Stop gain W704X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 207319 chr15 44084533 44084533 G A rs760708897 SERF2-C15ORF63 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 207320 chr2 170129474 170129474 G A rs145709922 LRP2 Synonymous SNV F693F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 8.443 207321 chr20 45947946 45947946 G A rs941869976 LOC100131496 0 0 0.003 0 0 0 0 1 0 0 0 0 6.648 207322 chr7 21639524 21639524 C T DNAH11 Synonymous SNV F929F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.87 207323 chr14 78161086 78161086 G T rs374787102 ALKBH1 Nonsynonymous SNV F150L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.773 207324 chr15 65899562 65899562 G A rs749373557 INTS14 Nonsynonymous SNV L53F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.14 207325 chr15 67813705 67813705 T G rs982305643 C15orf61 Nonsynonymous SNV L40R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 207326 chr20 48522505 48522505 G A rs755281890 SPATA2 Nonsynonymous SNV P405L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 207327 chr14 88454837 88454837 C T rs778447883 GALC Nonsynonymous SNV E76K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 25.1 207328 chr2 175335231 175335231 C T rs760300507 GPR155 Nonsynonymous SNV D305N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 207329 chr14 90770485 90770485 T C rs150585386 NRDE2 Nonsynonymous SNV T267A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.037 207330 chr14 90770496 90770496 G C rs149712515 NRDE2 Nonsynonymous SNV A263G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.07 207331 chr15 73624540 73624540 G A rs746461789 HCN4 Synonymous SNV L435L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 10.58 207332 chr7 2626002 2626002 C G rs200208942 IQCE Nonsynonymous SNV Q264E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 207333 chr15 73994865 73994865 G A rs200105637 CD276 Nonsynonymous SNV E117K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 207334 chr19 42776085 42776085 G A CIC Synonymous SNV P50P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 2.725 207335 chr20 56138726 56138726 G A rs200817092 PCK1 Nonsynonymous SNV G302R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 207336 chr2 37295825 37295825 T C rs150172872 HEATR5B Synonymous SNV V392V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 207337 chr20 5923310 5923310 T C rs373735256 TRMT6 Nonsynonymous SNV S94G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.95 207338 chr20 60882847 60882847 G A rs776679747 ADRM1 Synonymous SNV T234T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 207339 chr2 190428600 190428600 C T rs387907378 SLC40A1 Nonsynonymous SNV R371Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.9 207340 chr15 83451712 83451712 A G FSD2 Synonymous SNV A267A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.876 207341 chr2 47797312 47797312 A G rs772454579 KCNK12 Synonymous SNV G53G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.234 207342 chr15 65684513 65684513 C T rs148990036 IGDCC4 Nonsynonymous SNV R694Q 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25.3 207343 chr20 61513314 61513314 C T rs116887394 DIDO1 Nonsynonymous SNV A1332T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.19 207344 chr10 70764832 70764832 C T rs200098813 KIFBP Nonsynonymous SNV R186C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 22.3 207345 chr11 59417013 59417013 G A rs776461678 PATL1 Nonsynonymous SNV P552L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.7 207346 chr10 71905256 71905256 C T TYSND1 Nonsynonymous SNV A363T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.8 207347 chr2 67624695 67624695 T C rs201688163 ETAA1 Nonsynonymous SNV S39P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 207348 chr19 46271284 46271284 G A rs572124056 DM1-AS 0 0.003 0 0 0 1 0 0 0 0 0 0 2.446 207349 chr2 70504280 70504280 A G rs768389465 PCYOX1 Nonsynonymous SNV Y425C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 207350 chr11 617443 617443 C T rs763654741 CDHR5 Nonsynonymous SNV A622T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.18 207351 chr21 35987095 35987095 G A rs200939086 RCAN1 Synonymous SNV H72H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.594 207352 chr2 75186015 75186015 C T POLE4 Nonsynonymous SNV A70V 0.001 0 0 0 1 0 0 0 0 0 0 0 30 207353 chr21 37618180 37618180 A G rs201825608 DOP1B Nonsynonymous SNV Q1301R 0 0 0.003 0 0 0 0 1 0 0 0 0 22 207354 chr21 37732328 37732328 A G rs192090360 MORC3 Synonymous SNV Q357Q 0.003 0.003 0.014 2 4 1 0.005 4 0 0 0 0 2.252 207355 chr15 42160332 42160332 C T rs776041899 SPTBN5 Nonsynonymous SNV E2048K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.959 207356 chr19 49967779 49967779 C T rs201895597 ALDH16A1 Synonymous SNV D428D 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 207357 chr11 6519454 6519454 G A rs117055865 DNHD1 Synonymous SNV P3P 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 Benign 4.674 207358 chr21 45540650 45540650 G T rs575653924 LOC102724159, PWP2 Nonsynonymous SNV R492S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 207359 chr2 99448950 99448950 A G KIAA1211L Nonsynonymous SNV M134T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 207360 chr21 45928653 45928653 C T rs36046970 TSPEAR-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.508 207361 chr2 223916972 223916972 T C rs72548794 KCNE4 Nonsynonymous SNV L37S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.438 207362 chr7 87032502 87032502 T C ABCB4 Synonymous SNV Q1147Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.614 207363 chr21 47818154 47818154 G A rs762188563 PCNT Synonymous SNV A1405A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.844 207364 chr21 47831696 47831696 C T rs774766182 PCNT Synonymous SNV R1785R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 207365 chr2 109529174 109529174 C T rs538920020 EDAR Synonymous SNV S163S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 207366 chr16 10851824 10851824 G A rs150735725 NUBP1 Synonymous SNV S171S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.953 207367 chr19 52207559 52207559 A C rs984061127 SPACA6 Nonsynonymous SNV Q256P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.117 207368 chr2 113479635 113479635 C T rs17042284 NT5DC4 Nonsynonymous SNV P53L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.4 207369 chr2 113481045 113481045 T C rs746854375 NT5DC4 Synonymous SNV D198D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.251 207370 chr16 23702298 23702298 C T rs375401457 ERN2 Nonsynonymous SNV V827I 0 0.005 0 0 0 2 0 0 0 0 0 0 18.86 207371 chr16 1129855 1129855 C T rs541031900 SSTR5 Synonymous SNV D329D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.444 207372 chr7 91708761 91708761 A T rs138468216 AKAP9 Nonsynonymous SNV E2438D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.817 207373 chr2 113593761 113593761 T C IL1B Nonsynonymous SNV S16G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 207374 chr16 24960805 24960805 A G rs768342863 ARHGAP17 Synonymous SNV S349S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.11 207375 chr7 92848771 92848771 C T HEPACAM2 Nonsynonymous SNV A13T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.24 207376 chr16 27751488 27751488 G A rs139286639 KIAA0556 Nonsynonymous SNV E624K 0 0.005 0.003 0 0 2 0 1 0 0 0 0 6.722 207377 chr7 92970796 92970796 G T rs533219036 VPS50 Nonsynonymous SNV V706L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 207378 chr7 94915605 94915605 C T rs769394160 PPP1R9A Nonsynonymous SNV L949F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.91 207379 chr16 2867889 2867889 G C rs529075947 PRSS21 Nonsynonymous SNV R60P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 207380 chr22 26083584 26083584 C T GRK3 Synonymous SNV L190L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 207381 chr8 100654424 100654424 C T rs117148013 VPS13B Nonsynonymous SNV T1894M 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 9.233 207382 chr8 100712122 100712122 A G rs142248228 VPS13B Nonsynonymous SNV N2164S 0.003 0 0.01 1 3 0 0.003 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 207383 chr11 69934184 69934184 C T rs542259870 ANO1 Synonymous SNV D145D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.84 207384 chr14 95560402 95560402 C T rs765113010 DICER1 Synonymous SNV P1729P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.82 207385 chr22 29445518 29445518 A G rs774213111 ZNRF3 Nonsynonymous SNV K450R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 207386 chr22 29521292 29521292 C T rs73882473 KREMEN1 Synonymous SNV N173N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.327 207387 chr22 29706927 29706927 C G rs61737776 GAS2L1 Nonsynonymous SNV R317G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 207388 chr22 29908025 29908025 G A rs16987733 THOC5 Synonymous SNV N594N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 9.091 207389 chr22 30766164 30766164 C G rs187975292 KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 4.883 207390 chr19 54672342 54672342 C T rs139063746 TMC4 Synonymous SNV V175V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 13.85 207391 chr2 241465210 241465210 G A rs138007583 ANKMY1 Synonymous SNV N90N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.119 207392 chr16 20835839 20835839 A - rs568815560 REXO5 D232Afs*13 0.004 0.005 0 0 5 2 0 0 0 0 0 0 207393 chr2 159663601 159663601 G A rs145213097 DAPL1 Nonsynonymous SNV D61N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 207394 chr16 231021 231021 C G rs144961211 HBQ1 Nonsynonymous SNV P115A 0.001 0.008 0.003 0 1 3 0 1 0 0 0 0 19.92 207395 chr16 2334358 2334358 T C rs35089233 ABCA3 Nonsynonymous SNV S1262G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.6 207396 chr11 77907771 77907771 C T rs747741823 USP35 Synonymous SNV H160H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.998 207397 chr3 4859887 4859887 A G rs755310414 ITPR1 Synonymous SNV E2600E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.503 207398 chr3 8609134 8609134 C T rs201589414 LMCD1 Synonymous SNV F243F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.42 207399 chr2 170042241 170042241 C T rs148251117 LRP2 Nonsynonymous SNV R3206H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 35 207400 chr16 56865830 56865830 C T rs145146218 NUP93 Nonsynonymous SNV R265W 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 34 207401 chr16 57201066 57201066 T A rs143746498 PSME3IP1 Nonsynonymous SNV I141L 0 0.005 0 0 0 2 0 0 0 0 0 0 4.381 207402 chr16 29824500 29824500 C T PRRT2 Nonsynonymous SNV P42L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 18.52 207403 chr22 41631149 41631149 C T rs77419992 CHADL Synonymous SNV K754K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.3 207404 chr2 172952919 172952919 C A rs758527146 DLX1 Synonymous SNV I234I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 207405 chr16 30727409 30727409 G A SRCAP Nonsynonymous SNV R839H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 207406 chr2 176981691 176981691 G A rs145541578 HOXD10 Nonsynonymous SNV G44R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 207407 chr3 15071832 15071832 C T rs144602409 NR2C2 Nonsynonymous SNV S328F 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 12.43 207408 chr2 179413588 179413588 G A rs756786292 TTN Nonsynonymous SNV A21857V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 207409 chr11 92599987 92599987 C T rs76965380 FAT3 Synonymous SNV N3913N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.44 207410 chr16 31439107 31439107 G A rs756608300 COX6A2 Synonymous SNV Y94Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.524 207411 chr16 70500809 70500809 G A rs17881323 FCSK Nonsynonymous SNV V146M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 31 207412 chr22 46656145 46656145 G A rs753064790 PKDREJ Synonymous SNV V1025V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 207413 chr16 70711734 70711734 C T rs762888112 MTSS2 Synonymous SNV L231L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 207414 chr22 47311842 47311842 G A rs775407172 TBC1D22A-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 1.803 207415 chr3 38048436 38048436 - ATC rs748209017 VILL Y618_L619insH 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 207416 chr11 99715623 99715623 A G rs202069039 CNTN5 Nonsynonymous SNV D32G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.29 207417 chr11 124496376 124496376 G C TBRG1 Nonsynonymous SNV K154N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 207418 chr19 58265007 58265007 G C rs772781781 ZNF776 Nonsynonymous SNV G170A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 207419 chr16 75269428 75269428 C T BCAR1 Nonsynonymous SNV E247K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 207420 chr22 50716896 50716896 G A rs368368664 PLXNB2 Nonsynonymous SNV P1567L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 207421 chr22 50727290 50727290 G A rs147728569 PLXNB2 Nonsynonymous SNV T421I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.874 207422 chr12 102055018 102055018 C T rs77045393 MYBPC1 Synonymous SNV Y619Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.18 207423 chr12 102079385 102079385 C T rs73390504 MYBPC1 Nonsynonymous SNV S1166F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 26.5 207424 chr3 42572998 42572998 G T rs375928724 VIPR1 Nonsynonymous SNV A66S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.391 207425 chr16 1411894 1411894 G A rs76594024 GNPTG Synonymous SNV P85P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.217 207426 chr2 187529348 187529348 G A rs200130364 ITGAV Nonsynonymous SNV G649R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 207427 chr2 190327227 190327227 G A rs115693757 WDR75 Nonsynonymous SNV G266S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 207428 chr16 53682940 53682940 C T rs142349647 RPGRIP1L Nonsynonymous SNV R747Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 207429 chr16 84346641 84346641 - C WFDC1 Frameshift insertion G76Rfs*61 0 0.003 0 0 0 1 0 0 0 0 0 0 207430 chr2 108910793 108910793 G A rs149311077 SULT1C2 Nonsynonymous SNV R87Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 16.87 207431 chr12 10954579 10954579 G A rs144257075 TAS2R7 Synonymous SNV C197C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 1.293 207432 chr16 1706216 1706216 C T rs780318934 CRAMP1 Synonymous SNV S486S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.511 207433 chr2 201436663 201436663 A G SGO2 Nonsynonymous SNV K532E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 207434 chr12 110480193 110480193 T A rs202016063 C12orf76 Nonsynonymous SNV H124L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 207435 chr3 47037437 47037437 G A rs72909834 NBEAL2 Nonsynonymous SNV V649I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 207436 chr3 47044741 47044741 C G rs200641534 NBEAL2 Nonsynonymous SNV P1854A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.075 207437 chr12 112082057 112082057 C T rs770754015 BRAP Synonymous SNV S575S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.758 207438 chr16 67264583 67264583 C A FHOD1 Nonsynonymous SNV A927S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.46 207439 chr12 112617011 112617011 C T rs375826951 HECTD4 Synonymous SNV P3736P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 207440 chr3 47537646 47537646 G T ELP6 Nonsynonymous SNV H238Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 207441 chr16 21031014 21031014 C T rs368345567 DNAH3 Nonsynonymous SNV G1939D 0 0.008 0 0 0 3 0 0 0 0 0 0 24.8 207442 chr2 207171410 207171410 G C rs368129483 ZDBF2 Nonsynonymous SNV D720H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 207443 chr3 48690522 48690522 G A rs761302939 CELSR3 Synonymous SNV H1849H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.871 207444 chr16 69377448 69377448 T C rs75287606 TMED6 Synonymous SNV Q195Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 207445 chr16 88907498 88907498 G A rs150582627 GALNS Synonymous SNV Y108Y 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Likely benign 0.808 207446 chr12 114804153 114804153 C T rs757373962 TBX5 Nonsynonymous SNV V217M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.5 207447 chr12 114837364 114837364 T C rs147710408 TBX5 Nonsynonymous SNV I56V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 18.73 207448 chr3 49680129 49680129 C T rs202097348 BSN Synonymous SNV G354G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.195 207449 chr16 2514179 2514179 G A rs200856167 TEDC2 Synonymous SNV A368A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.81 207450 chr16 27221902 27221902 G C rs765907950 KDM8 Nonsynonymous SNV R191T 0 0.005 0 0 0 2 0 0 0 0 0 0 9.619 207451 chr11 22281262 22281262 G C ANO5 Nonsynonymous SNV K534N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 207452 chr16 89619414 89619414 G A rs370852816 SPG7 Nonsynonymous SNV A603T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 207453 chr3 51661637 51661637 C T rs191989141 RAD54L2 Nonsynonymous SNV R70W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 207454 chr16 2816519 2816519 G A rs138447860 SRRM2 Nonsynonymous SNV R1997H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 22.7 207455 chr11 32956517 32956517 T C rs201661339 QSER1 Nonsynonymous SNV I1238T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.003 207456 chr3 57232918 57232918 C T rs148422263 HESX1 Nonsynonymous SNV V74M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.006 207457 chr11 33631372 33631372 A T rs180957739 KIAA1549L Synonymous SNV G1713G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.208 207458 chr16 31896496 31896496 A G ZNF267 Nonsynonymous SNV K49E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.58 207459 chr15 85326734 85326734 A G rs140199982 ZNF592 Synonymous SNV P276P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.558 207460 chr2 220437231 220437231 G A rs1048613973 INHA Synonymous SNV A45A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.861 207461 chr2 220439886 220439886 C A rs758448367 INHA Nonsynonymous SNV R247S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 207462 chr16 84883111 84883111 G A rs202232857 CRISPLD2 Synonymous SNV T160T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.62 207463 chr16 85689400 85689400 T A rs747712438 GSE1 Nonsynonymous SNV L185Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 207464 chr12 14577401 14577401 G T ATF7IP Synonymous SNV V184V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.255 207465 chr11 45925682 45925682 G A rs150751406 MAPK8IP1 Nonsynonymous SNV E546K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28 207466 chr2 174131366 174131366 G C MAP3K20 Nonsynonymous SNV S764T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.001 207467 chr3 101568755 101568755 C A rs779117101 NFKBIZ Nonsynonymous SNV Q95K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 207468 chr12 18435441 18435441 T C rs71539451 PIK3C2G Synonymous SNV S142S 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.335 207469 chr12 18865819 18865819 A G rs144902254 PLCZ1 Nonsynonymous SNV L120P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.55 207470 chr2 179701697 179701697 T G CCDC141 Nonsynonymous SNV N1417H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 207471 chr8 77616515 77616515 C T rs141168301 ZFHX4 Synonymous SNV F64F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.14 207472 chr15 91474581 91474581 T G HDDC3 Nonsynonymous SNV K155T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 207473 chr3 112991985 112991985 G A rs150006243 BOC Nonsynonymous SNV C344Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 207474 chr2 186655435 186655435 G A rs913647028 FSIP2 Nonsynonymous SNV S1191N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 207475 chr2 190331237 190331237 C G rs149892591 WDR75 Nonsynonymous SNV P459R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 207476 chr16 89986303 89986303 C T rs200000734 MC1R Nonsynonymous SNV R213W 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 207477 chr3 119451267 119451267 C G rs151167502 MAATS1 Nonsynonymous SNV P256R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 207478 chr16 58550144 58550144 C T rs777084402 SETD6 Synonymous SNV L125L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 207479 chr17 10435151 10435151 G A rs757177803 MYH2 Synonymous SNV H832H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.627 207480 chr17 12639589 12639589 C T rs375719397 MYOCD Nonsynonymous SNV A176V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.37 207481 chr1 1262293 1262293 G T rs930546989 CPTP Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 25 207482 chr1 1389838 1389838 G A rs764999428 ATAD3C Synonymous SNV T112T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.64 207483 chr16 68849489 68849489 C T rs373811706 CDH1 Synonymous SNV V403V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 15.62 207484 chr16 68953070 68953070 C T rs201926305 TANGO6 Nonsynonymous SNV T692M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 207485 chr17 1686702 1686702 C T rs145838756 SMYD4 Nonsynonymous SNV V697M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 207486 chr3 129231172 129231172 C T rs140575442 IFT122 Synonymous SNV V858V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 207487 chr3 3144388 3144388 C T rs144856728 IL5RA Nonsynonymous SNV V67M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.6 207488 chr3 3195713 3195713 C G rs779833529 CRBN Nonsynonymous SNV L293F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 207489 chr16 72829092 72829092 A C rs780252867 ZFHX3 Nonsynonymous SNV S1583A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.658 207490 chr2 216977774 216977774 C T rs764581950 XRCC5 Synonymous SNV T19T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 207491 chr2 217234703 217234703 C T rs764811796 MARCHF4 Nonsynonymous SNV R94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.44 207492 chr17 21101835 21101835 C T rs899963166 TMEM11 Synonymous SNV Q127Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.647 207493 chr16 2121817 2121817 G A rs754504918 TSC2 Nonsynonymous SNV S460N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.197 207494 chr1 152573420 152573420 C A rs138652729 LCE3C Nonsynonymous SNV N71K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.376 207495 chr2 219114124 219114124 C T rs377464218 ARPC2 Synonymous SNV D238D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 207496 chr1 152957821 152957844 GAGCCCTGCCACCCCAAGGTGCCT - rs17882377 SPRR1A H50_C57del 0 0.003 0 0 0 1 0 0 0 0 0 0 207497 chr11 56086178 56086178 C T OR8K3 Synonymous SNV Y132Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.336 207498 chr2 220046830 220046830 C T rs4674362 RETREG2 Synonymous SNV L164L 0.003 0.003 0.01 2 3 1 0.005 3 0 0 0 0 7.663 207499 chr17 39140468 39140468 C T rs138668275 KRT40 Nonsynonymous SNV G20S 0 0.005 0 0 0 2 0 0 0 0 0 0 4.212 207500 chr3 142102233 142102233 C T rs755217169 XRN1 Nonsynonymous SNV R842H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 207501 chr16 81712200 81712200 C T rs369769411 CMIP Nonsynonymous SNV T358M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 207502 chr1 154427050 154427050 G A rs2228146 IL6R Nonsynonymous SNV V385I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.014 207503 chr2 223084914 223084914 G A rs200701839 PAX3 Nonsynonymous SNV P372L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 24.5 207504 chr16 84213211 84213211 G A rs139380627 TAF1C Nonsynonymous SNV A317V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.063 207505 chr17 39633345 39633345 C - rs773636138 KRT35 R444Pfs*78 0 0.003 0 0 0 1 0 0 0 0 0 0 207506 chr3 155633942 155633942 T C rs770187764 GMPS Synonymous SNV H391H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.289 207507 chr17 28417566 28417566 G A rs140949092 EFCAB5 Nonsynonymous SNV G1271S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 207508 chr3 25770765 25770765 A C rs760580010 NGLY1 Synonymous SNV S472S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.64 207509 chr16 3406340 3406340 G A rs147461021 OR2C1 Nonsynonymous SNV A134T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.02 207510 chr3 167543061 167543061 A G rs144637103 SERPINI1 Nonsynonymous SNV M395V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.59 207511 chr3 168833404 168833404 C T rs780185684 MECOM Synonymous SNV K564K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 207512 chr3 38051432 38051432 G C rs200255245 PLCD1 Nonsynonymous SNV P438R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 207513 chr3 169572683 169572683 C T rs763641316 LRRC31 Synonymous SNV P247P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 207514 chr2 238244836 238244836 G A rs201605617 COL6A3 Synonymous SNV V2362V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.667 207515 chr11 57145296 57145296 C T rs139866329 PRG3 Nonsynonymous SNV R174Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.5 207516 chr16 89017551 89017617 TCCCCTGGATCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCG - LOC100129697 I345Tfs*60 0 0.003 0 0 0 1 0 0 0 0 0 0 207517 chr3 182871692 182871692 G C rs767327887 LAMP3 Nonsynonymous SNV S179R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 207518 chr2 240702099 240702099 G A rs114961871 LOC150935 0 0 0.014 0 0 0 0 4 0 0 0 0 0.325 207519 chr9 133884891 133884891 A G rs141758463 LAMC3 Nonsynonymous SNV Q97R 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 22.9 207520 chr17 4500502 4500502 C T rs377118143 SMTNL2 Synonymous SNV S381S 0 0.005 0 0 0 2 0 0 0 0 0 0 18.55 207521 chr3 43344920 43344920 C A rs566685254 SNRK Synonymous SNV I75I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 207522 chr17 37872052 37872052 T C ERBB2 Nonsynonymous SNV L458P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 207523 chr11 58979762 58979762 G C rs201984349 MPEG1 Nonsynonymous SNV L193V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 207524 chr2 25384468 25384468 - GCTGCTGCCGCTGCTGCT POMC S95_G96insSSSGSS 0 0 0.003 2 0 0 0.005 1 0 0 0 0 207525 chr3 194371647 194371647 A T LSG1 Nonsynonymous SNV I461N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 207526 chr3 194790691 194790691 G A rs370261697 XXYLT1 Nonsynonymous SNV P166L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 207527 chr16 66426144 66426144 G A rs146820626 CDH5 Nonsynonymous SNV V359I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.93 207528 chr16 67918809 67918809 G A rs201174409 NRN1L Star tloss M2del 0.002 0 0 0 2 0 0 0 0 0 0 0 9.449 207529 chr17 56659023 56659023 T C rs371926925 TEX14 Synonymous SNV P1086P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.506 207530 chr17 57093003 57093003 C T rs532325984 TRIM37 Synonymous SNV A694A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.95 207531 chr3 49322300 49322300 A G USP4 Synonymous SNV Y704Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.774 207532 chr4 952042 952042 C G rs373928619 TMEM175 Nonsynonymous SNV L343V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 207533 chr4 956699 956699 C G rs377628798 DGKQ Synonymous SNV L632L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 207534 chr4 983534 983534 G T rs755078988 SLC26A1 Nonsynonymous SNV A398D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 207535 chr9 140157585 140157585 G A rs781287935 NELFB Nonsynonymous SNV V280M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 207536 chr17 6012984 6012984 C T rs146993898 WSCD1 Nonsynonymous SNV R303W 0 0.005 0 0 0 2 0 0 0 0 0 0 28.8 207537 chr2 44073403 44073403 G A rs372921526 ABCG8 Nonsynonymous SNV S92N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.753 207538 chr11 63233603 63233603 A G PLAAT5 Synonymous SNV Y232Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 207539 chr2 48681850 48681850 T C rs148229375 PPP1R21 Synonymous SNV A81A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.16 207540 chr2 54131243 54131243 G A PSME4 Synonymous SNV N998N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 207541 chr4 5844866 5844866 A C CRMP1 Nonsynonymous SNV M329R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 207542 chr2 55461280 55461280 G A rs768546951 RPS27A Synonymous SNV L43L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 207543 chr9 2812275 2812275 G T rs760052993 PUM3 Nonsynonymous SNV H453N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 207544 chr2 61330994 61330994 A G KIAA1841 Nonsynonymous SNV K312E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 207545 chr4 6577010 6577010 G T rs751905516 MAN2B2 Nonsynonymous SNV G25C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 207546 chr2 62449916 62449916 A G rs148241288 B3GNT2 Synonymous SNV P187P 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 Benign 2.896 207547 chr17 27010367 27010367 C A rs141330818 SUPT6H Nonsynonymous SNV L654I 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 24.8 207548 chr4 6865773 6865773 G C KIAA0232 Nonsynonymous SNV D1222H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 207549 chr3 58087982 58087982 C T rs369946402 FLNB Synonymous SNV G466G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 207550 chr4 7817819 7817819 G A rs376906405 AFAP1 Nonsynonymous SNV S277F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 207551 chr17 30615965 30615965 G A rs145090577 RHBDL3 Nonsynonymous SNV R89H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 207552 chr17 4803069 4803069 C A C17orf107 Synonymous SNV T4T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.77 207553 chr17 48046917 48046917 G T rs148979255 DLX4 Nonsynonymous SNV A29S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 207554 chr3 69151049 69151049 G C rs149729754 ARL6IP5 Nonsynonymous SNV G79A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 207555 chr17 48266141 48266141 C G rs139593707 COL1A1 Nonsynonymous SNV E1021Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 22.5 207556 chr17 32964712 32964712 G T TMEM132E Nonsynonymous SNV G896C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 207557 chr17 4846508 4846508 C T rs768771369 RNF167 Nonsynonymous SNV P134S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.98 207558 chr3 96962899 96962899 A G rs536651965 EPHA6 Synonymous SNV T458T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.765 207559 chr9 6986498 6986498 C T rs373821690 KDM4C Synonymous SNV S322S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.19 207560 chr9 72897495 72897495 A G rs141264576 SMC5 Nonsynonymous SNV E326G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.51 207561 chr17 4995290 4995290 G A ZFP3 Nonsynonymous SNV S164N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 207562 chr2 95954317 95954317 T C PROM2 Synonymous SNV R807R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.465 207563 chr17 36868129 36868129 C T rs746743334 MLLT6 Synonymous SNV G194G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.08 207564 chr17 55182846 55182846 G A rs148802735 AKAP1 Synonymous SNV S7S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.54 207565 chr3 111604158 111604158 C A PHLDB2 Synonymous SNV R412R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 207566 chr2 99152227 99152227 C T INPP4A Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 207567 chr16 89613073 89613073 G A rs111475461 SPG7 Nonsynonymous SNV R486Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 207568 chr13 29005390 29005390 T C FLT1 Nonsynonymous SNV I291V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.002 207569 chr17 57289730 57289730 G T rs143473864 SMG8 Synonymous SNV P596P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 1.357 207570 chr17 74392382 74392382 A G UBE2O Nonsynonymous SNV M879T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.861 207571 chr3 113376114 113376119 TGCTGC - USF3 Q1477_Q1478del 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 207572 chr17 74470523 74470523 G A rs143503813 RHBDF2 Nonsynonymous SNV R466W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 34 207573 chr3 114069311 114069311 C G ZBTB20 Nonsynonymous SNV Q538H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 207574 chr17 1174311 1174311 C T BHLHA9 Nonsynonymous SNV P152S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 207575 chr1 210329101 210329101 G A rs61743985 SYT14 Synonymous SNV S400S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.29 207576 chr3 113890671 113890671 C T rs143935709 DRD3 Nonsynonymous SNV E57K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 207577 chr17 16256591 16256591 C T rs750221283 CENPV Nonsynonymous SNV E54K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.171 207578 chr11 75898133 75898133 G A rs779203205 WNT11 Synonymous SNV T347T 0 0 0 1 0 0 0.003 0 0 0 0 0 13 207579 chr13 46543808 46543808 C A rs770218245 ZC3H13 Nonsynonymous SNV K957N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 207580 chr3 122334579 122334579 T G PARP15 Nonsynonymous SNV I8R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.517 207581 chrX 149638184 149638184 G C MAMLD1 Nonsynonymous SNV L88F 0 0 0 2 0 0 0.005 0 0 0 0 1 0.001 207582 chr17 1960242 1960242 C T HIC1 Synonymous SNV R105R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 207583 chr17 71357860 71357860 C T rs8067373 SDK2 Synonymous SNV P1810P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.51 207584 chr3 124854556 124854556 T C rs78995429 SLC12A8 Synonymous SNV E231E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.589 207585 chr3 125249390 125249390 T G rs758954293 OSBPL11 Nonsynonymous SNV K738T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 207586 chrX 152710265 152710265 C A rs35639416 TREX2 Synonymous SNV L208L 0 0 0 2 0 0 0.005 0 0 0 0 1 7.284 207587 chrX 152710388 152710388 G A rs34136705 TREX2 Synonymous SNV R167R 0 0 0 2 0 0 0.005 0 0 0 0 1 0.071 207588 chr13 76195833 76195833 A G rs143470231 LMO7 Nonsynonymous SNV K2E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 207589 chrX 153186942 153186942 G A rs5987182 ARHGAP4 Nonsynonymous SNV A104V 0.002 0 0 2 2 0 0.005 0 0 0 0 1 23.1 207590 chrX 153609141 153609141 C T rs139983160 EMD Nonsynonymous SNV S143F 0.003 0 0 1 3 0 0.003 0 1 0 0 0 Conflicting interpretations of pathogenicity 17.5 207591 chr1 223536678 223536678 C G SUSD4 Nonsynonymous SNV L30F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.88 207592 chr4 81952658 81952658 C T rs61729824 BMP3 Nonsynonymous SNV R74W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 207593 chr3 129694726 129694726 C A TRH Nonsynonymous SNV R23S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 207594 chr17 79668576 79668576 C T rs567783998 HGS Synonymous SNV P754P 0 0.005 0 0 0 2 0 0 0 0 0 0 12.58 207595 chr4 88026981 88026981 T A rs141434206 AFF1 Nonsynonymous SNV S85T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.15 207596 chr17 4455189 4455189 C T rs115682714 MYBBP1A Nonsynonymous SNV V337M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 0.135 207597 chr17 27187533 27187533 G A rs113245578 ERAL1 Nonsynonymous SNV D343N 0.004 0 0 0 5 0 0 0 0 0 0 0 23.2 207598 chr3 136574395 136574395 G A rs199534279 SLC35G2 Nonsynonymous SNV V365M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 207599 chr3 134670773 134670773 C T rs201770786 EPHB1 Synonymous SNV N228N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 207600 chr4 109674138 109674138 T G ETNPPL Nonsynonymous SNV K119N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 207601 chr17 48265475 48265475 A G rs1800217 COL1A1 Synonymous SNV V1081V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 6.041 207602 chr3 146243412 146243412 T G PLSCR1 Nonsynonymous SNV Q31P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 207603 chr1 23280483 23280483 C A rs771388518 LACTBL1 Nonsynonymous SNV A265S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 207604 chr17 76437167 76437167 C T rs151195909 DNAH17 Synonymous SNV P3881P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.4 207605 chr17 76497940 76497940 C T rs139273056 DNAH17 Nonsynonymous SNV V1736I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 12.91 207606 chr17 51064685 51064685 C T rs151315334 C17orf112 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.697 207607 chr17 51064766 51064766 G A rs140616172 C17orf112 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.707 207608 chr17 51064785 51064785 C A rs144593294 C17orf112 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.27 207609 chr3 150421801 150421801 C T rs559134719 ERICH6-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.039 207610 chr17 36719739 36719739 A T SRCIN1 Nonsynonymous SNV F187Y 0.003 0 0 0 3 0 0 0 0 0 0 0 14.6 207611 chr17 56232964 56232964 G C OR4D1 Synonymous SNV V150V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.278 207612 chr18 2890900 2890900 A G rs35267664 EMILIN2 Nonsynonymous SNV M259V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.017 207613 chr1 237713929 237713929 G A rs79457258 RYR2 Nonsynonymous SNV R1051H 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 207614 chr3 155203398 155203398 A G rs146644809 PLCH1 Synonymous SNV D907D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.18 207615 chr18 2913357 2913357 C T rs61377307 EMILIN2 Synonymous SNV S1039S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 12.27 207616 chr3 155547508 155547508 T G rs144015992 SLC33A1 Nonsynonymous SNV N382T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.93 207617 chr3 172534549 172534549 C T rs138783754 ECT2 Synonymous SNV H799H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.168 207618 chr4 144620391 144620391 G T rs201833779 FREM3 Nonsynonymous SNV Q480K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.3 207619 chr4 152086758 152086758 G A rs755081146 SH3D19 Nonsynonymous SNV P262L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 207620 chr12 122701345 122701345 T C DIABLO Synonymous SNV E32E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.707 207621 chr3 185181400 185181400 A T rs751782947 MAP3K13 Synonymous SNV I240I 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 1.968 207622 chr3 183909011 183909011 G A rs767424582 ABCF3 Nonsynonymous SNV V507M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 207623 chr14 31605823 31605823 T C HECTD1 Nonsynonymous SNV T1010A 0 0.005 0 0 0 2 0 0 0 0 0 0 17.91 207624 chr12 124104685 124104685 T C DDX55 X601R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 207625 chr17 67096958 67096958 C T rs747530521 ABCA6 Nonsynonymous SNV E998K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.191 207626 chr17 8215393 8215393 C G rs748986833 ARHGEF15 Synonymous SNV P12P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.131 207627 chr17 40265828 40265828 G A rs201088859 KAT2A Nonsynonymous SNV R785C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 207628 chr4 186435936 186435936 T C rs1000708897 PDLIM3 Nonsynonymous SNV I147V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 207629 chr3 196388511 196388511 C T rs943013017 NRROS Nonsynonymous SNV A666V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 207630 chr1 26349354 26349354 C G rs200312696 EXTL1 Nonsynonymous SNV Q73E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.011 207631 chr1 26514994 26514994 G A rs555467929 CNKSR1 Synonymous SNV S537S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.39 207632 chr18 23865864 23865864 C A rs143419622 TAF4B Synonymous SNV R331R 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Benign 20.3 207633 chr18 67266682 67266682 G A rs776114206 DOK6 Synonymous SNV A79A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.882 207634 chr1 26612408 26612408 A C UBXN11 Nonsynonymous SNV L107R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 207635 chr3 28357875 28357875 G A rs368173219 CMC1 Nonsynonymous SNV R24Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 207636 chr18 2847897 2847897 C T rs769447842 EMILIN2 Synonymous SNV A75A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 207637 chr18 28993135 28993135 G A rs762580122 DSG4 Synonymous SNV V919V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.04 207638 chr3 33114064 33114066 TCA - GLB1 M72del 0 0 0.003 0 0 0 0 1 0 0 0 0 207639 chr1 27333242 27333242 G A rs142664149 TENT5B Synonymous SNV A157A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.846 207640 chr18 31319879 31319879 C T rs61729751 ASXL3 Synonymous SNV T837T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.247 207641 chr18 31325875 31325875 G A rs373180997 ASXL3 Synonymous SNV P2021P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.039 207642 chr17 74068513 74068513 - CCGCCGCCGCCACTG SRP68 G20_G21insSGGGG 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 207643 chr5 3599842 3599842 T C rs61741521 IRX1 Synonymous SNV A260A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 207644 chr18 77475437 77475437 C T rs769072618 CTDP1 Synonymous SNV H540H 0 0.005 0 0 0 2 0 0 0 0 0 0 15.65 207645 chr18 77746601 77746601 C A rs868780697 TXNL4A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.481 207646 chr12 27934076 27934076 G T KLHL42 Synonymous SNV A271A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.21 207647 chr3 39228235 39228235 T C XIRP1 Nonsynonymous SNV E901G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 207648 chr5 6752989 6752989 A G TENT4A Nonsynonymous SNV R675G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 207649 chr17 4848295 4848296 CT - rs762920349 RNF167 P311Rfs*28 0.001 0 0.003 0 1 0 0 1 0 0 0 0 207650 chr17 7483395 7483395 C T CD68 Nonsynonymous SNV T79I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 207651 chr5 13850817 13850817 C T DNAH5 Synonymous SNV G1686G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 207652 chr18 44184084 44184084 C T rs564030670 LOXHD1 Nonsynonymous SNV G290R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 26.8 207653 chr3 432698 432698 A G rs145504852 CHL1 Nonsynonymous SNV I883V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 207654 chr18 47402168 47402168 G T rs957096119 MYO5B Nonsynonymous SNV D1142E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 207655 chr19 10334677 10334677 G A rs528470769 S1PR2 Nonsynonymous SNV P302L 0 0.005 0 0 0 2 0 0 0 0 0 0 12.45 207656 chr4 7770615 7770615 G C AFAP1 Nonsynonymous SNV P708A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 207657 chr18 480713 480713 G T COLEC12 Synonymous SNV R18R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.76 207658 chr12 46287210 46287210 A G rs373875150 ARID2 Nonsynonymous SNV T1719A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.953 207659 chr1 3756226 3756226 C T rs61746709 CEP104 Synonymous SNV K227K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.16 207660 chr10 27964212 27964212 C T rs768495764 MKX Synonymous SNV S335S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 17.54 207661 chr17 7705229 7705229 A G rs781016420 DNAH2 Nonsynonymous SNV M2956V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.25 207662 chr3 45943130 45943130 A G rs12721497 CCR9 Nonsynonymous SNV M272V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 207663 chr3 46963574 46963574 G A rs143611248 CCDC12 Synonymous SNV T158T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 207664 chr3 47164630 47164630 G T SETD2 Nonsynonymous SNV T455N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 207665 chr12 49415898 49415898 G A rs372675867 KMT2D Synonymous SNV A5483A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.52 207666 chr12 49424703 49424703 G A rs201119371 KMT2D Synonymous SNV S4548S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 9.86 207667 chr3 49114160 49114160 C T rs373919470 QRICH1 Synonymous SNV Q97Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 207668 chr3 49141355 49141355 C T rs141983717 QARS1 Nonsynonymous SNV D95N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 21.6 207669 chr3 49694039 49694039 C T rs147380440 BSN Synonymous SNV S2350S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.03 207670 chr3 49699953 49699953 T G rs764344900 BSN Nonsynonymous SNV Y3559D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.23 207671 chr4 36109250 36109250 G C ARAP2 Nonsynonymous SNV P1408A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 207672 chr1 46463433 46463434 AA - MAST2 N50Cfs*12 0.001 0.003 0 0 1 1 0 0 0 0 0 0 207673 chr12 51883579 51883579 C T rs778535354 SLC4A8 Synonymous SNV V848V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.07 207674 chr5 66479450 66479450 C T rs150317318 CD180 Synonymous SNV E407E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.628 207675 chr17 8131628 8131628 C T rs201788219 CTC1 Nonsynonymous SNV R1175Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.6 207676 chr19 15791247 15791247 G A rs377107512 CYP4F12 Nonsynonymous SNV R148H 0.003 0.008 0.003 0 3 3 0 1 0 0 0 0 24.1 207677 chr19 15963050 15963050 G A rs1030327686 CLEC4O Synonymous SNV D62D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 3.078 207678 chr19 16000343 16000343 C T rs751528640 CYP4F2 Nonsynonymous SNV V270I 0 0.005 0 0 0 2 0 0 0 0 0 0 16.97 207679 chr12 53008456 53008456 G A rs115179423 KRT73 Synonymous SNV D242D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.612 207680 chr5 74489249 74489249 T C rs763694784 ANKRD31 Synonymous SNV V395V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.98 207681 chr18 12948195 12948195 G A SEH1L Synonymous SNV R25R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.93 207682 chr17 7247256 7247256 G A rs746367494 ACAP1 Nonsynonymous SNV R217Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 207683 chr12 53586536 53586536 C T rs61754162 ITGB7 Nonsynonymous SNV G629S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 24.9 207684 chr5 79741168 79741168 T C rs146812154 ZFYVE16 Nonsynonymous SNV S890P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 207685 chr19 17441281 17441281 G A rs200317906 ANO8 Synonymous SNV A342A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.067 207686 chr3 98251071 98251071 G A rs149131823 GPR15 Nonsynonymous SNV R65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.4 207687 chr5 80376497 80376497 C T rs151235741 RASGRF2 Synonymous SNV L350L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 207688 chr4 71507981 71507981 G T rs774216441 ENAM Nonsynonymous SNV G62W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 207689 chr5 82816667 82816667 G A rs188853533 VCAN Nonsynonymous SNV E848K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.15 207690 chr19 1054789 1054789 C T rs751734479 ABCA7 Nonsynonymous SNV P1288S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 207691 chr3 9974665 9974665 C T IL17RC Synonymous SNV L464L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.53 207692 chr4 76804223 76804223 G A rs139554399 PPEF2 Synonymous SNV H263H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.079 207693 chr5 95297349 95297349 T C rs570828892 ELL2 Nonsynonymous SNV N26S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.34 207694 chr19 10745908 10745908 C T rs748937282 SLC44A2 Synonymous SNV I373I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.67 207695 chr4 102269628 102269628 A G FLJ20021 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 207696 chr4 103635719 103635719 C T rs760404534 MANBA 0 0 0.003 0 0 0 0 1 0 0 0 0 25 207697 chr12 57009216 57009216 G A rs77625477 BAZ2A Synonymous SNV N104N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 6.302 207698 chr12 57039080 57039080 C T rs41291993 ATP5F1B Nonsynonymous SNV R62H 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.6 207699 chr10 78734311 78734311 G A rs188354139 KCNMA1 Nonsynonymous SNV R525C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.05 207700 chr19 1277263 1277263 C T rs112664514 FAM174C Synonymous SNV D121D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.36 207701 chr4 84243503 84243503 C T rs781393849 HPSE Nonsynonymous SNV R81H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 207702 chr4 87693951 87693951 C T rs577122961 PTPN13 Nonsynonymous SNV P1539L 0.003 0 0 0 4 0 0 0 0 0 0 0 8.077 207703 chr19 1467926 1467926 G A rs111699814 APC2 Synonymous SNV P1541P 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 9.341 207704 chr1 86172024 86172024 T C ZNHIT6 Nonsynonymous SNV K246R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.1 207705 chr5 127614492 127614492 T C rs141854054 FBN2 Nonsynonymous SNV I2394V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.23 207706 chr4 126328128 126328128 C T rs201887525 FAT4 Nonsynonymous SNV R1801W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24 207707 chr5 132219084 132219084 G C rs375501684 AFF4 Synonymous SNV L1104L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.254 207708 chr4 1303500 1303500 G A MAEA Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.922 207709 chr12 70925881 70925881 G A PTPRB Synonymous SNV D1838D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.82 207710 chr19 34297801 34297801 C T rs375099630 KCTD15 Synonymous SNV I92I 0 0.005 0 0 0 2 0 0 0 0 0 0 16.23 207711 chr4 13583911 13583911 T C rs201668743 BOD1L1 Nonsynonymous SNV T2848A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.003 207712 chr4 13600612 13600612 T C rs779621008 BOD1L1 Nonsynonymous SNV I2638V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 207713 chr4 140216939 140216939 G A NDUFC1 Nonsynonymous SNV A5V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.409 207714 chr19 16436140 16436142 GCC - rs780246337 KLF2 P71del 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 207715 chr4 152204270 152204270 T C rs772665131 PRSS48 Synonymous SNV D161D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 207716 chr18 7016597 7016597 T C rs776840507 LAMA1 Nonsynonymous SNV D961G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 207717 chr4 113508648 113508651 TCTG - rs754134583 ZGRF1 Q1130Vfs*9 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 207718 chr1 92948551 92948551 G A rs143913803 GFI1 Synonymous SNV S56S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 11.7 207719 chr4 119736618 119736618 G T SEC24D Nonsynonymous SNV P221T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.4 207720 chr12 8192599 8192599 C T rs376535944 FOXJ2 Synonymous SNV D57D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.55 207721 chr4 15689208 15689208 G A rs143515975 FAM200B Nonsynonymous SNV R203Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 207722 chr17 80992967 80992967 C T rs754393002 B3GNTL1 Nonsynonymous SNV A96T 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 207723 chr18 8784213 8784213 G A MTCL1 Nonsynonymous SNV R368H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 207724 chr4 17579155 17579155 G C rs148471769 LAP3 Nonsynonymous SNV G23R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.433 207725 chr5 149435683 149435683 C T rs531754207 CSF1R Synonymous SNV K820K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.18 207726 chr5 149776159 149776159 A C rs201234047 TCOF1 Nonsynonymous SNV K1289Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 207727 chr19 39008109 39008109 A C rs201588259 RYR1 Nonsynonymous SNV M3266L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.12 207728 chr19 1058212 1058212 G T rs144259338 ABCA7 Nonsynonymous SNV R1698L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 207729 chr4 156764955 156764955 C T rs770336848 ASIC5 Nonsynonymous SNV G247S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 207730 chr11 1084826 1084826 A C MUC2 Nonsynonymous SNV K874T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.44 207731 chr4 2307125 2307125 G C rs143836367 ZFYVE28 Synonymous SNV L284L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.037 207732 chr4 24534508 24534508 C T rs143258066 DHX15 Synonymous SNV L693L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.6 207733 chr19 11319689 11319689 G A rs377330706 DOCK6 Synonymous SNV A1614A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.16 207734 chr19 33792303 33792303 C T rs375833261 CEBPA Nonsynonymous SNV G221S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 27.5 207735 chr19 42383169 42383169 C T rs140047688 CD79A Synonymous SNV N63N 0 0.005 0 0 0 2 0 0 0 0 0 0 8.732 207736 chr19 13246228 13246228 G A rs149110290 NACC1 Synonymous SNV L69L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.764 207737 chr5 169435575 169435575 C T rs199995403 DOCK2 Synonymous SNV H1049H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.2 207738 chr5 170238966 170238966 A G rs78172859 GABRP Nonsynonymous SNV N280S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 207739 chr4 186097182 186097182 - T rs745592538 CFAP97 Frameshift insertion G360Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 207740 chr19 36135619 36135619 C T rs754513928 ETV2 Synonymous SNV G111G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.59 207741 chr19 15302855 15302855 C T NOTCH3 Nonsynonymous SNV V199M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.901 207742 chr4 41648620 41648620 C T rs151066536 LIMCH1 Nonsynonymous SNV R293C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 207743 chr19 15375317 15375317 G A rs150237748 BRD4 Synonymous SNV A370A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 207744 chr13 31714369 31714369 C T rs144947618 HSPH1 Synonymous SNV E568E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.3 207745 chr4 48545910 48545910 G T rs765978838 FRYL Nonsynonymous SNV L1836I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 207746 chr19 16596062 16596062 T C CALR3 Nonsynonymous SNV D135G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 30 207747 chr5 6714594 6714594 C T rs541110146 TENT4A Synonymous SNV H166H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.712 207748 chr5 16672862 16672862 C T rs753227123 MYO10 Nonsynonymous SNV G1749S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.8 207749 chr19 39226928 39226928 G A rs199893946 CAPN12 Nonsynonymous SNV H469Y 0.003 0 0 0 3 0 0 0 0 0 0 0 16.18 207750 chr13 52661553 52661553 T C rs151195749 NEK5 Nonsynonymous SNV Q438R 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.557 207751 chr6 14131919 14131919 A G rs199999913 CD83 Nonsynonymous SNV T108A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.409 207752 chr4 7435890 7435890 C T rs984927961 PSAPL1 Synonymous SNV L239L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.896 207753 chr6 24658101 24658101 T C rs374315615 TDP2 Synonymous SNV E152E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.446 207754 chr5 41382364 41382364 C G rs148305120 PLCXD3 Nonsynonymous SNV E126Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 207755 chr14 102551315 102551317 TTT - rs746607033 HSP90AA1 K228del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 207756 chr16 2256490 2256490 G C MLST8 Synonymous SNV V64V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.529 207757 chr19 42799208 42799208 G A rs750834733 CIC Synonymous SNV S1564S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.883 207758 chr5 52403046 52403046 G C rs766341488 MOCS2 Nonsynonymous SNV A49G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.09 207759 chr4 83821917 83821917 C T THAP9-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 207760 chr19 42911617 42911617 T C rs144357047 LIPE Nonsynonymous SNV S616G 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 23.5 207761 chr16 27556644 27556644 G C GTF3C1 Nonsynonymous SNV A141G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 207762 chr5 54941697 54941697 T A rs187154786 SLC38A9 Nonsynonymous SNV T300S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.49 207763 chr19 44131831 44131831 G A CADM4 Nonsynonymous SNV P59L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 207764 chr11 15212278 15212278 A T rs773020434 INSC Nonsynonymous SNV N204I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 207765 chr16 28950029 28950029 C G rs144178895 CD19 Nonsynonymous SNV L508V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 207766 chr5 63257397 63257397 C T HTR1A Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 207767 chr19 50354612 50354612 C T rs909965752 PTOV1 Synonymous SNV Y9Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.99 207768 chr16 29810595 29810595 G A rs765346261 KIF22 Nonsynonymous SNV R189Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 22.2 207769 chr19 33392223 33392223 A G rs148506114 CEP89 Nonsynonymous SNV L554S 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 24.3 207770 chr6 35803114 35803114 G A rs369528818 SRPK1 Synonymous SNV A645A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.999 207771 chr14 105954505 105954505 G A rs11544870 CRIP1 Nonsynonymous SNV E15K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 30 207772 chr19 3531788 3531788 T C rs140377183 FZR1 Nonsynonymous SNV M177T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.305 207773 chr19 35752883 35752883 A C rs141323755 LSR Nonsynonymous SNV E258D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.97 207774 chr5 10461363 10461363 G C rs755410588 ROPN1L Nonsynonymous SNV R162P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 207775 chr19 35837119 35837119 C T rs375870727 CD22 Nonsynonymous SNV A621V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.026 207776 chr6 40998223 40998223 A G rs200374920 UNC5CL Nonsynonymous SNV F413S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.8 207777 chr19 4511902 4511902 C A rs372822966 PLIN4 Nonsynonymous SNV K690N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 207778 chr16 4387055 4387055 G A rs200720013 GLIS2 Nonsynonymous SNV G369S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.6 207779 chr19 36674450 36674450 C T rs137989312 ZNF565 Nonsynonymous SNV V75I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 207780 chr19 46274288 46274288 G A rs954731550 DMPK Stop gain Q570X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 38 207781 chr5 127477660 127477660 T C SLC12A2 Nonsynonymous SNV M587T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.04 207782 chr6 45390430 45390430 - CAGCAGCAGCAGCAACAGCAG RUNX2 Q57_E58insQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 207783 chr19 37643884 37643884 G C rs769443221 ZNF585A Nonsynonymous SNV S306C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 207784 chr5 132232183 132232183 T C AFF4 Synonymous SNV P713P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.8 207785 chr19 3819230 3819230 C T rs201155220 ZFR2 Nonsynonymous SNV G582R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.61 207786 chr6 47200632 47200632 G A TNFRSF21 Nonsynonymous SNV R613W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 207787 chr21 40752397 40752397 G A rs758158378 GET1, WRB-SH3BGR Synonymous SNV P29P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 16.14 207788 chr19 38384469 38384476 GAACCTGT - WDR87 T623Cfs*32 0 0.003 0 0 0 1 0 0 0 0 0 0 207789 chr19 48714997 48714997 G A rs140428405 CARD8 Synonymous SNV L478L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.79 207790 chr19 48879420 48879420 G A rs141678741 SYNGR4 Nonsynonymous SNV G184S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.441 207791 chr14 30046564 30046564 T C rs150018148 PRKD1 Synonymous SNV A873A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.231 207792 chr19 49216992 49216992 C G rs143820544 MAMSTR Nonsynonymous SNV E147D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.29 207793 chr6 52996826 52996826 G A rs187370387 GCM1 Synonymous SNV D140D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.559 207794 chr19 17892594 17892594 G A rs369573396 FCHO1 Synonymous SNV E584E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.275 207795 chr5 140751245 140751245 C G rs200964276 PCDHGB3 Synonymous SNV G428G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.741 207796 chr6 64421948 64421948 G A rs200738433 PHF3 Nonsynonymous SNV M1400I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 207797 chr6 65327409 65327409 A G rs374409854 EYS Nonsynonymous SNV C1196R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.37 207798 chr5 112173613 112173613 C T rs145792879 APC Synonymous SNV D756D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.485 207799 chr19 4157073 4157073 T G rs749292117 CREB3L3 Nonsynonymous SNV W79G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 207800 chr6 74189551 74189551 A G rs145043138 MTO1 Nonsynonymous SNV T308A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.3 207801 chr19 50792767 50792767 G A rs201418071 MYH14 Synonymous SNV L1568L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.53 207802 chr5 145547769 145547769 T C rs73317824 LARS1 Synonymous SNV P64P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.561 207803 chr19 50965177 50965177 G A rs754195476 MYBPC2 Nonsynonymous SNV E1038K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.9 207804 chr19 55831821 55831821 C T TMEM150B Nonsynonymous SNV C45Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 207805 chr19 42352553 42352553 C T DMRTC2 Nonsynonymous SNV T135I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.306 207806 chr6 84884670 84884670 A C CEP162 Nonsynonymous SNV S525A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 207807 chr19 42754607 42754607 C A ERF Nonsynonymous SNV V45F 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 207808 chr19 4290527 4290527 C A rs761821848 SHD Nonsynonymous SNV P307H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 207809 chr19 56154118 56154118 C A rs114142434 ZNF580 Nonsynonymous SNV P82T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.46 207810 chr6 90377778 90377778 G A rs759221472 MDN1 Synonymous SNV G4683G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 207811 chr19 56172525 56172525 C T rs73936310 U2AF2 Synonymous SNV Y152Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.94 207812 chr19 56172528 56172528 G T rs73936311 U2AF2 Synonymous SNV V153V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.819 207813 chr19 56200285 56200285 G A rs61736526 EPN1 Synonymous SNV A176A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.128 207814 chr6 96969815 96969815 G A UFL1 Synonymous SNV E22E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.09 207815 chr5 137520593 137520593 A G rs200404024 KIF20A Nonsynonymous SNV N594S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 207816 chr5 138356887 138356887 G A rs760991652 SIL1 Nonsynonymous SNV A247V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 207817 chr19 52627303 52627303 C T rs139760067 ZNF616 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.92 207818 chr19 5273476 5273476 T C PTPRS Nonsynonymous SNV H119R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.57 207819 chr5 154214189 154214189 A G rs145518722 FAXDC2 Synonymous SNV F80F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.764 207820 chr5 159776690 159776690 C T rs201922307 C1QTNF2 Nonsynonymous SNV G115S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 207821 chr5 160763735 160763735 C T rs761229229 GABRB2 Nonsynonymous SNV D195N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 207822 chr14 74960539 74960539 C T rs372853525 ISCA2 Nonsynonymous SNV P21L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.31 207823 chr5 166802384 166802384 A G TENM2 Nonsynonymous SNV I136M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 207824 chr19 53409496 53409498 ACT - rs140299094 ZNF888 S693del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 207825 chr5 140719975 140719975 C T rs141955016 PCDHGA2 Synonymous SNV P479P 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 6.242 207826 chr5 140772687 140772687 C T rs142751758 PCDHGA8 Synonymous SNV L103L 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 1.271 207827 chr5 140773019 140773019 G T rs189963623 PCDHGA8 Synonymous SNV T213T 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 5.631 207828 chr19 36583680 36583680 A G rs376256950 WDR62 Nonsynonymous SNV H767R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.02 207829 chr5 176026690 176026690 T C GPRIN1 Nonsynonymous SNV Q49R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 207830 chr5 176072179 176072179 C T EIF4E1B Nonsynonymous SNV R137C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 207831 chr16 84906082 84906082 G A rs1003197762 CRISPLD2 Nonsynonymous SNV A317T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.7 207832 chr5 145439568 145439568 C T rs142262740 SH3RF2 Synonymous SNV A565A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 207833 chr6 126080816 126080816 A G rs140309029 HEY2 Synonymous SNV A294A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.451 207834 chr19 4818209 4818209 G A rs149930656 TICAM1 Synonymous SNV L61L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.441 207835 chr5 176764180 176764180 G A rs201213972 LMAN2 Synonymous SNV T249T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.74 207836 chr6 128388632 128388632 C T rs373357681 LOC101928140 0.001 0 0 0 1 0 0 0 0 0 0 0 1.23 207837 chr6 129513972 129513972 G A LAMA2 Nonsynonymous SNV A586T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 207838 chr5 177547339 177547339 C A rs755138757 N4BP3 Nonsynonymous SNV A164D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 207839 chr5 178293253 178293253 G A rs116171970 ZNF354B Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.199 207840 chr5 178358713 178358713 T C rs114711990 ZFP2 Synonymous SNV N133N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 207841 chr5 178391859 178391859 T C rs143152818 ZNF454 Nonsynonymous SNV C152R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 207842 chr5 147665608 147665608 T C rs368951502 SPINK13 Synonymous SNV D94D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 207843 chr5 178541024 178541024 G T rs34437036 ADAMTS2 Synonymous SNV A1160A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.94 207844 chr5 178552169 178552169 G A rs144797464 ADAMTS2 Synonymous SNV G921G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.652 207845 chr6 136560616 136560616 C T rs145047825 MTFR2 Nonsynonymous SNV R286H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 207846 chr19 55628655 55628655 G A PPP1R12C Nonsynonymous SNV A86V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.35 207847 chr19 55628656 55628656 C G PPP1R12C Nonsynonymous SNV A86P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.58 207848 chr5 179315160 179315160 G T rs764747184 TBC1D9B Synonymous SNV S399S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.908 207849 chr5 149907391 149907391 C T rs374701769 NDST1 Nonsynonymous SNV A180V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 207850 chr19 3909541 3909541 G C rs138571070 ATCAY Synonymous SNV L235L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.033 207851 chr5 1879733 1879733 - G IRX4 Frameshift insertion W208Vfs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 207852 chr5 150886794 150886794 G C rs368309685 FAT2 Synonymous SNV P4146P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.559 207853 chr22 37462988 37462988 C T rs146767495 TMPRSS6 Nonsynonymous SNV A710T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 207854 chr5 34818921 34818921 G A rs747432780 RAI14 Nonsynonymous SNV R291Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 207855 chr19 42525579 42525579 C T rs151120519 GRIK5 Nonsynonymous SNV R582H 0.003 0 0 0 4 0 0 0 0 0 0 0 27.1 207856 chr5 175958485 175958485 G T rs148181459 RNF44 Synonymous SNV P148P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.711 207857 chr17 1399664 1399664 G A INPP5K Synonymous SNV S378S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 3.901 207858 chr5 61789844 61789844 A C rs140537211 IPO11 Synonymous SNV R535R 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 5.459 207859 chr5 63510321 63510321 C T rs568069088 RNF180 Nonsynonymous SNV R390C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 207860 chr5 647965 647965 T C CEP72 Nonsynonymous SNV L571P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 207861 chr5 177547316 177547316 G A N4BP3 Synonymous SNV P156P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.782 207862 chr5 177651529 177651540 CCCGGTAGGGGC - rs773866148 PHYKPL G135_R138del 0.001 0 0 0 1 0 0 0 0 0 0 0 207863 chr5 178373970 178373970 C T rs148134751 ZNF454 Nonsynonymous SNV P78L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.798 207864 chr5 73069792 73069792 C T rs781550938 ARHGEF28 Synonymous SNV N196N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 207865 chr6 170871013 170871013 - CAGCAGCAG TBP Q75_A76insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 207866 chr5 74091995 74091995 G A rs778097956 FAM169A Nonsynonymous SNV R374C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 207867 chr6 401700 401700 C T rs200311468 IRF4 Nonsynonymous SNV A340V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 207868 chr7 1481971 1481971 C T rs780277245 MICALL2 Nonsynonymous SNV S523N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.002 207869 chr19 4511641 4511641 G A PLIN4 Synonymous SNV A777A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.585 207870 chr7 1608925 1608925 G A rs374957691 PSMG3 Synonymous SNV C17C 0.002 0 0 0 2 0 0 0 0 0 0 0 4.378 207871 chr7 2559832 2559832 C T LFNG Stop gain R113X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 207872 chr19 45655991 45655991 - CCCCCGGCGT NKPD1 Frameshift insertion E569Rfs*289 0.002 0.003 0 0 2 1 0 0 0 0 0 0 207873 chr19 549004 549004 G A rs758189560 GZMM Nonsynonymous SNV R105Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.715 207874 chr5 79950657 79950657 C T rs146523896 MSH3 Synonymous SNV T37T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 10.11 207875 chr22 50987573 50987573 C T rs760543971 KLHDC7B Synonymous SNV N967N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.64 207876 chr19 55421388 55421388 G A NCR1 Synonymous SNV E120E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.677 207877 chr1 107691416 107691416 T A rs757998582 NTNG1 Synonymous SNV P67P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.955 207878 chr1 107691417 107691417 C A rs777160639 NTNG1 Nonsynonymous SNV P68T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28 207879 chr5 89954009 89954009 G A rs200955930 ADGRV1 Nonsynonymous SNV E1556K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Uncertain significance 9.158 207880 chr5 94024330 94024330 G A rs143344611 SLF1 Synonymous SNV L747L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 5.096 207881 chr7 16720976 16720976 C A rs760950174 BZW2 Nonsynonymous SNV H96N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 207882 chr7 20682988 20682988 C T rs767761999 ABCB5 Nonsynonymous SNV R166C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 207883 chr1 11151587 11151587 T C rs768534408 EXOSC10 Nonsynonymous SNV Q147R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.68 207884 chr6 100911318 100911318 C A SIM1 Synonymous SNV A9A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.34 207885 chr15 62967473 62967473 C T rs748308139 TLN2 Nonsynonymous SNV L304F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 207886 chr2 11338668 11338668 A C rs201466826 ROCK2 Nonsynonymous SNV I930M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.81 207887 chr19 5694443 5694443 C T rs202064670 LONP1 Nonsynonymous SNV V563M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 207888 chr17 34252539 34252539 A C rs763134448 RDM1 Nonsynonymous SNV C104G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 21.5 207889 chr19 57132734 57132734 A G rs10405299 ZNF71 Nonsynonymous SNV R27G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.08 207890 chr6 34004337 34004337 C T rs559913506 GRM4 Nonsynonymous SNV R401H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 207891 chr6 34508895 34508895 C T rs201119153 SPDEF Nonsynonymous SNV R167Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 207892 chr15 68118022 68118022 T C rs763647181 SKOR1 Nonsynonymous SNV F28L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.805 207893 chr6 35446279 35446279 T C TEAD3 Nonsynonymous SNV S138G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 207894 chr7 31793067 31793067 G T rs368406121 PDE1C Stop gain Y687X 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 36 207895 chr2 122489716 122489716 G T rs768177439 NIFK Nonsynonymous SNV A103D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.9 207896 chr6 121412076 121412076 A T TBC1D32 Nonsynonymous SNV C1193S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 207897 chr17 36707479 36707479 C T rs369732094 SRCIN1 Synonymous SNV P958P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.61 207898 chr6 38866118 38866118 C A rs199779645 DNAH8 Nonsynonymous SNV L2792M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 207899 chr11 640071 640071 C T rs780104604 DRD4 Synonymous SNV C274C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.94 207900 chr6 129714246 129714246 A G rs141950826 LAMA2 Nonsynonymous SNV E1764G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.67 207901 chr17 38127835 38127835 G A rs200069078 GSDMA Nonsynonymous SNV R206Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.6 207902 chr6 132966560 132966560 A G rs776029093 TAAR1 Nonsynonymous SNV F195L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.86 207903 chr1 100203752 100203752 C G rs748078597 FRRS1 Nonsynonymous SNV A217P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.97 207904 chr15 78401778 78401778 C T rs773316705 CIB2 Nonsynonymous SNV G54R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.126 207905 chr19 58992002 58992002 G A rs140471976 ZNF446 Nonsynonymous SNV R421Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.5 207906 chr7 45144244 45144244 G A rs146485929 TBRG4 Nonsynonymous SNV A278V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 207907 chr6 137525526 137525526 G A rs41288981 IFNGR1 Synonymous SNV P163P 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 8.414 207908 chr6 43527935 43527935 A T rs780266230 XPO5 Nonsynonymous SNV S401T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 207909 chr6 142525132 142525134 TAA - VTA1 N237del 0 0 0.003 0 0 0 0 1 0 0 0 0 207910 chr6 44228254 44228254 G A rs774922615 NFKBIE Synonymous SNV A238A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 207911 chr1 109270488 109270488 T C rs76973952 FNDC7 Synonymous SNV I390I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.993 207912 chr17 39388867 39388867 T C rs760707982 KRTAP9-3 Synonymous SNV C38C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.006 207913 chr1 109486662 109486662 G A rs74113720 CLCC1 Synonymous SNV G119G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.75 207914 chr6 148865842 148865842 C T rs141603869 SASH1 Nonsynonymous SNV P840L 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 207915 chr6 49425559 49425559 T C rs772104231 MMUT Nonsynonymous SNV I200V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.73 207916 chr7 56007670 56007670 C T rs367652775 ZNF713 Nonsynonymous SNV R422C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.06 207917 chr7 64151687 64151687 A G rs541402754 ZNF107 Nonsynonymous SNV D22G 0.003 0 0 0 3 0 0 0 0 0 0 0 19.79 207918 chr19 8121248 8121263 AGATTCTACCTCCCCA - rs769619657 CCL25 F65Efs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 207919 chr19 813501 813501 C T rs746674994 PLPPR3 Nonsynonymous SNV S437N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.64 207920 chr7 64451767 64451767 G A rs375719949 ERV3-1 Synonymous SNV V546V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 207921 chr7 65551762 65551762 C A rs111407265 ASL Synonymous SNV R186R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22 207922 chr17 40267759 40267759 G A rs530757124 KAT2A Synonymous SNV I619I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.76 207923 chr6 158540099 158540099 T C rs367903368 SERAC1 Nonsynonymous SNV M424V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 207924 chr15 90319772 90319772 C T MESP2 Stop gain R62X 0 0 0 1 0 0 0.003 0 0 0 0 0 31 207925 chr17 42477189 42477189 A G rs3744426 GPATCH8 Synonymous SNV D674D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.728 207926 chr17 42759487 42759487 G A rs377227106 CCDC43 Synonymous SNV A104A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.917 207927 chr2 179396815 179396815 G A rs945747944 TTN Synonymous SNV L25778L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 11.3 207928 chr19 55489157 55489157 C T NLRP2 Synonymous SNV D121D 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 7.023 207929 chr2 179441464 179441464 G A rs763640597 TTN Synonymous SNV S14104S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.45 207930 chr2 179483108 179483108 C T rs201717871 TTN Nonsynonymous SNV V6628I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 207931 chr7 92735121 92735121 T C SAMD9 Nonsynonymous SNV K97R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 207932 chr7 94993374 94993374 C T rs201544566 PON3 Nonsynonymous SNV V166M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.1 207933 chr7 98257788 98257788 C T rs776156518 NPTX2 Synonymous SNV R381R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 207934 chr6 17826139 17826139 C T rs868551894 KIF13A Nonsynonymous SNV R549Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 207935 chr19 56127037 56127037 A G ZNF865 Nonsynonymous SNV M685V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 207936 chr11 7531045 7531058 CTCTGGGCCATCCA - rs774470568 OLFML1 I146Rfs*4 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 207937 chr6 24412567 24412567 G A rs200245617 MRS2 Nonsynonymous SNV V128I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 207938 chr6 24843097 24843097 A C rs115013548 RIPOR2 Nonsynonymous SNV I617S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 207939 chr1 147381079 147381079 G C rs587600450 GJA8 Nonsynonymous SNV G333R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 207940 chr6 25653609 25653609 G - rs60502981 SCGN 0 0 0.003 0 0 0 0 1 0 0 0 0 207941 chr6 25777056 25777056 C T rs34048275 SLC17A4 Synonymous SNV S379S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 207942 chr6 26045776 26045776 C T rs141335378 H3C3 Synonymous SNV T46T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.316 207943 chr6 26156822 26156822 C A rs148757707 HIST1H1E Synonymous SNV A68A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.67 207944 chr6 26385574 26385574 A G rs745748386 BTN2A2 Synonymous SNV L142L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 207945 chr19 56735107 56735107 C T rs368509037 ZSCAN5A Nonsynonymous SNV V44M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.003 207946 chr19 5693470 5693470 C T rs147591431 LONP1 Nonsynonymous SNV A652T 0.002 0 0 0 2 0 0 0 0 0 0 0 34 207947 chr6 107088340 107088340 G A rs758616388 QRSL1 Synonymous SNV V47V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 207948 chr1 16058484 16058484 G A rs145743094 PLEKHM2 Nonsynonymous SNV E856K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 15.26 207949 chr19 57326850 57326850 T C rs149044578 PEG3 Nonsynonymous SNV H832R 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 24.7 207950 chr17 56397907 56397907 G A rs376616029 TSPOAP1 Synonymous SNV A426A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.97 207951 chr19 58213888 58213888 G A rs746203114 ZNF154 Synonymous SNV S143S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.97 207952 chr1 155019728 155019728 C T rs757626860 DCST1 Stop gain R493X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 207953 chr6 36343714 36343714 C T rs61757380 ETV7 Nonsynonymous SNV E81K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 207954 chr16 22268190 22268190 G C rs574100448 EEF2K Nonsynonymous SNV R247P 0 0 0 1 0 0 0.003 0 0 0 0 0 33 207955 chr6 125475101 125475101 G C rs139773004 TPD52L1 Nonsynonymous SNV E2Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.7 207956 chr6 130154675 130154675 T C TMEM244 Synonymous SNV P83P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.192 207957 chr6 39073547 39073547 C T rs114633981 SAYSD1 Synonymous SNV A71A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 207958 chr16 28884936 28884936 C T SH2B1 Nonsynonymous SNV P689L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 22.3 207959 chr6 136693745 136693745 A T rs150650551 MAP7 Nonsynonymous SNV I163N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 207960 chr7 100685573 100685573 C T rs770294093 MUC17 Nonsynonymous SNV P3626S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 207961 chr1 17664598 17664598 T C PADI4 Synonymous SNV N158N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.024 207962 chr6 139202171 139202171 C T rs199632951 ECT2L Synonymous SNV Y581Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.57 207963 chr6 143093853 143093853 T G HIVEP2 Nonsynonymous SNV M675L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.616 207964 chr1 1179804 1179804 T G C1QTNF12 Nonsynonymous SNV D84A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.219 207965 chr6 147525807 147525807 C A STXBP5 Nonsynonymous SNV Q47K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 207966 chr7 108524494 108524494 C T rs141228190 C7orf66 Nonsynonymous SNV M32I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.582 207967 chr1 15911322 15911322 G C rs779620205 AGMAT Synonymous SNV P47P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.07 207968 chr6 46593179 46593179 T G rs41273656 CYP39A1 Nonsynonymous SNV I131L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.201 207969 chr16 31388162 31388162 G A rs148620790 ITGAX Nonsynonymous SNV A851T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.14 207970 chr6 46836691 46836691 T C ADGRF5 Nonsynonymous SNV Y517C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 207971 chr6 46978020 46978020 G A rs765369441 ADGRF1 Nonsynonymous SNV S384L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 207972 chr6 150690169 150690169 T C IYD Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23 207973 chr2 219696490 219696490 C T rs751665377 PRKAG3 Nonsynonymous SNV E2K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 207974 chr1 16071058 16071058 T G rs148441284 TMEM82 Nonsynonymous SNV L247R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 207975 chr17 73264176 73264176 G A rs764669487 MIF4GD Synonymous SNV Y60Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.93 207976 chr1 150131246 150131246 A G PLEKHO1 Nonsynonymous SNV Y81C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 207977 chr1 185939493 185939493 T C rs750409347 HMCN1 Nonsynonymous SNV F747L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 207978 chr6 55406934 55406934 G A rs752734099 HMGCLL1 Nonsynonymous SNV T38I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 207979 chr6 65300460 65300460 G T EYS Nonsynonymous SNV A1767E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.207 207980 chr17 74073481 74073481 G T GALR2 Nonsynonymous SNV G378V 0.003 0.005 0 1 4 2 0.003 0 1 0 0 0 5.328 207981 chr6 159166562 159166562 C - rs771127157 SYTL3 D96Efs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 207982 chr7 135100009 135100009 A C CNOT4 Synonymous SNV V125V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 207983 chr7 138604066 138604066 C T KIAA1549 Synonymous SNV Q102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.568 207984 chr6 7563008 7563008 G A rs868293429 DSP Nonsynonymous SNV D241N 0 0 0.007 0 0 0 0 2 0 0 1 0 34 207985 chr19 9068443 9068443 T G MUC16 Nonsynonymous SNV T6335P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.007 207986 chr6 76624635 76624635 G A rs751099407 MYO6 Nonsynonymous SNV R1223H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 207987 chr6 89827568 89827568 G A SRSF12 Synonymous SNV F13F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 207988 chr1 155228742 155228742 C T rs143130366 SCAMP3 Nonsynonymous SNV R105Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.2 207989 chr7 142563781 142563781 G A rs573448355 EPHB6 Nonsynonymous SNV R98H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 207990 chr19 9578981 9578982 AT - ZNF560 Stop gain Y108* 0.003 0 0 0 3 0 0 0 0 0 0 0 207991 chr7 966210 966210 C T rs148979654 ADAP1 Nonsynonymous SNV R23Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 207992 chr1 100573275 100573279 TGATA - rs776645730 SASS6 0.002 0 0 1 2 0 0.003 0 0 0 0 0 207993 chr16 68267279 68267279 T G ESRP2 Nonsynonymous SNV E202D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 207994 chr1 101427388 101427388 A T rs754216296 SLC30A7 Nonsynonymous SNV I283F 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 207995 chr7 2649727 2649727 C T rs145155468 IQCE Synonymous SNV D608D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.43 207996 chr1 17725245 17725245 A G PADI6 Nonsynonymous SNV I585V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.191 207997 chr7 4826002 4826002 C G rs763868444 AP5Z1 Synonymous SNV L262L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.56 207998 chr1 109794493 109794493 G A rs117684956 CELSR2 Nonsynonymous SNV V598M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 207999 chr7 6550554 6550554 C T rs756306500 GRID2IP Nonsynonymous SNV A514T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.651 208000 chr7 150776920 150776920 C T rs75507428 FASTK Nonsynonymous SNV V58I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 208001 chr7 150812565 150812565 C T rs183535982 AGAP3 Synonymous SNV G236G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.308 208002 chr7 11514071 11514071 C T rs747022144 THSD7A Synonymous SNV S714S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 208003 chr7 151876977 151876977 G C rs372070871 KMT2C Nonsynonymous SNV Q2462E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.469 208004 chr7 18067305 18067305 T G rs373232867 PRPS1L1 Nonsynonymous SNV K34T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 208005 chr7 158557476 158557476 A C rs922404528 ESYT2 Synonymous SNV L331L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 208006 chr7 21934291 21934291 C A rs375975851 DNAH11 Nonsynonymous SNV N4267K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 208007 chr7 27187357 27187357 A G rs754442674 HOXA6 Synonymous SNV Y4Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 208008 chr7 107350539 107350539 C T rs17154347 SLC26A4 Synonymous SNV D710D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 17.49 208009 chr7 107350627 107350627 G A rs17154353 SLC26A4 Nonsynonymous SNV G740S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.2 208010 chr7 107626764 107626764 A G rs149792171 LAMB1 Synonymous SNV F156F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.47 208011 chr18 21095953 21095953 A G rs149489770 RMC1 Nonsynonymous SNV H24R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 10.28 208012 chr1 225452965 225452965 C T rs1035634123 DNAH14 Nonsynonymous SNV T2435I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.49 208013 chr12 31605116 31605116 G A rs753825505 DENND5B Nonsynonymous SNV R286C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.4 208014 chr12 3649798 3649798 C T rs148005955 PRMT8 Synonymous SNV P25P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.24 208015 chr12 39726194 39726194 G A KIF21A Nonsynonymous SNV T922I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24 208016 chr7 127978383 127978383 G A rs367544004 RBM28 Synonymous SNV R154R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 208017 chr1 178427005 178427005 C T RASAL2 Stop gain Q719X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 208018 chr7 128481324 128481324 C T rs757352623 FLNC Synonymous SNV Y638Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 208019 chr7 128486052 128486052 C G rs371483562 FLNC Nonsynonymous SNV R1267G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 208020 chr2 37586970 37586970 G A rs748678483 QPCT Nonsynonymous SNV R172H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 208021 chr7 128490123 128490123 C T FLNC Nonsynonymous SNV H1765Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 208022 chr7 44713483 44713483 T A OGDH Nonsynonymous SNV M244K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 208023 chr2 39075426 39075426 C T rs140910356 DHX57 Nonsynonymous SNV V615I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 208024 chr1 20827528 20827528 C G rs979389061 MUL1 Nonsynonymous SNV R238S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.7 208025 chr17 10633186 10633209 GCGGGGCGGTGAGTCCTGCCACGT - rs3842379 TMEM220-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 208026 chr18 43833689 43833689 A G rs193120869 C18orf25 Nonsynonymous SNV S248G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.932 208027 chr12 49691090 49691090 G A LOC101927267 0 0 0 1 0 0 0.003 0 0 0 0 0 8.216 208028 chr12 49691091 49691091 C T LOC101927267 0 0 0 1 0 0 0.003 0 0 0 0 0 10.42 208029 chr12 49721017 49721017 C T rs755361126 TROAP Synonymous SNV R265R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.78 208030 chr1 184853933 184853933 G A NIBAN1 Synonymous SNV A145A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.3 208031 chr1 231333170 231333170 G T rs758387844 TRIM67 Nonsynonymous SNV K366N 0 0.005 0 0 0 2 0 0 0 0 0 0 21.5 208032 chr1 21137376 21137376 G A rs186152868 EIF4G3 Synonymous SNV A1477A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.71 208033 chr7 141719055 141719055 C T MGAM Synonymous SNV P128P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 208034 chr8 27321165 27321165 C A rs756903177 CHRNA2 Synonymous SNV P265P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 208035 chr17 1657591 1657591 C T rs781059789 SERPINF2 Synonymous SNV R349R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.37 208036 chr8 28984783 28984783 C - KIF13B Q1027Sfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 208037 chr1 235922671 235922671 T G rs147756847 LYST Nonsynonymous SNV E2161A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 208038 chr7 75894113 75894113 G A rs184677083 SRRM3 Synonymous SNV E235E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 208039 chr8 30694476 30694476 G A rs148081052 TEX15 Synonymous SNV G3108G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.163 208040 chr7 149152640 149152640 C T rs371404564 ZNF777 Synonymous SNV P158P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 208041 chr1 22181364 22181364 C T rs760003870 HSPG2 Nonsynonymous SNV R2038Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.4 208042 chr7 86827302 86827302 G T rs111700668 TMEM243 Nonsynonymous SNV F63L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 208043 chr17 18160290 18160290 C T rs754677147 FLII Nonsynonymous SNV R25Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 208044 chr7 151483561 151483561 G A rs770100112 PRKAG2 Stop gain R17X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 208045 chr7 1538669 1538669 T C rs781231608 INTS1 Nonsynonymous SNV Y360C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 208046 chr12 53003059 53003059 G A rs35061049 KRT73 Synonymous SNV S446S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.28 208047 chr12 53004328 53004328 C T rs987502818 KRT73-AS1 0 0 0.003 2 0 0 0.005 1 0 0 0 1 6.78 208048 chr8 62588692 62588692 G A rs181314347 ASPH Nonsynonymous SNV S185L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 208049 chr12 53184079 53184079 C A rs547164798 KRT3 Nonsynonymous SNV G545V 0.001 0.005 0 6 1 2 0.015 0 0 0 0 0 10.68 208050 chr8 70591710 70591710 G A rs757213198 SLCO5A1 Nonsynonymous SNV R588W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 208051 chr1 227923157 227923157 C A SNAP47 Nonsynonymous SNV P16Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.502 208052 chr1 228461971 228461971 G C rs761191731 OBSCN Nonsynonymous SNV A1837P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 208053 chr1 228461972 228461972 C T rs764516901 OBSCN Nonsynonymous SNV A1837V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 208054 chr17 26695960 26695960 G T rs782405279 VTN Nonsynonymous SNV N253K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.6 208055 chr8 94747904 94747904 G A rs188430114 RBM12B Synonymous SNV D245D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 208056 chr17 27837962 27837962 C T rs548664028 TAOK1 Synonymous SNV L552L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.03 208057 chr12 56088671 56088671 G A rs76938320 ITGA7 Nonsynonymous SNV S248L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 208058 chr8 97157413 97157413 G T rs121909352 GDF6 Nonsynonymous SNV A249E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.723 208059 chr1 22973929 22973929 C G rs764386104 C1QC Nonsynonymous SNV P42A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 208060 chr1 229772639 229772639 G T URB2 Nonsynonymous SNV G760V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.2 208061 chr8 99168537 99168537 A G POP1 Nonsynonymous SNV M773V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.377 208062 chr17 29231161 29231161 G A rs779707509 TEFM Nonsynonymous SNV R140W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.97 208063 chr3 10116249 10116249 A G rs766286504 FANCD2 Synonymous SNV L880L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.821 208064 chr3 10255065 10255065 G A rs779410952 IRAK2 Nonsynonymous SNV V235I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.971 208065 chr3 10312487 10312487 C T rs576056241 TATDN2 Nonsynonymous SNV R541C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 208066 chr8 105361144 105361144 C T rs531455192 DCSTAMP Synonymous SNV L122L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 208067 chr3 108219088 108219088 G T MYH15 Nonsynonymous SNV P145T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 208068 chr1 21036156 21036156 T C rs200568311 KIF17 Nonsynonymous SNV I216V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.94 208069 chr8 124696880 124696880 C T rs369931826 ANXA13 Synonymous SNV T267T 0.004 0 0 0 5 0 0 0 0 0 0 0 16.21 208070 chr17 3599338 3599338 C T rs367753872 P2RX5-TAX1BP3 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.38 208071 chr1 220208285 220208285 A G EPRS1 Nonsynonymous SNV Y68H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 208072 chr7 4830991 4830991 G A rs754594403 AP5Z1 Nonsynonymous SNV R644K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 208073 chr8 141684432 141684432 T G rs766342761 PTK2 Nonsynonymous SNV S181R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 208074 chr7 50132695 50132695 G T rs766586443 ZPBP Synonymous SNV I32I 0 0 0.007 0 0 0 0 2 0 0 0 0 7.62 208075 chr1 35654929 35654929 A G rs549530486 SFPQ Synonymous SNV Y490Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.754 208076 chr7 5521544 5521544 G A rs374847105 FBXL18 Synonymous SNV P573P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 208077 chr7 5663694 5663694 C G RNF216 Nonsynonymous SNV K815N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 208078 chr7 6063129 6063129 G A rs145632958 AIMP2 Nonsynonymous SNV R188H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 208079 chr1 39750993 39750993 A C MACF1 Synonymous SNV A433A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.63 208080 chr7 64853738 64853738 A C rs201710160 ZNF92 Synonymous SNV P50P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 2.042 208081 chr8 144895266 144895266 A G rs768999411 SCRIB Synonymous SNV T192T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 208082 chr8 144992502 144992502 G A rs373790491 PLEC Synonymous SNV L3815L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.514 208083 chr7 137565245 137565245 T C rs748709574 CREB3L2 Nonsynonymous SNV R451G 0.001 0 0 0 1 0 0 0 0 0 0 0 27 208084 chr7 75684277 75684277 G A rs141539461 MDH2 Nonsynonymous SNV A66T 0 0 0.007 0 0 0 0 2 0 0 0 0 32 208085 chr19 16611880 16611880 G A rs867213135 C19orf44 Nonsynonymous SNV A93T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.7 208086 chr7 139305268 139305268 C T rs780898575 HIPK2 Nonsynonymous SNV R554Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 208087 chr1 26230239 26230239 G A rs529084472 STMN1 Nonsynonymous SNV R27W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 208088 chr1 26355756 26355756 G A rs146998386 EXTL1 Synonymous SNV S284S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.287 208089 chr19 16925974 16925974 C T rs79307399 NWD1 Nonsynonymous SNV P1304L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.005 208090 chr1 26524490 26524490 C T rs114243558 CATSPER4 Synonymous SNV L200L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.15 208091 chr1 19181279 19181279 G A rs140330444 TAS1R2 Nonsynonymous SNV R229W 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 208092 chr7 82997078 82997078 C T rs148649507 SEMA3E Nonsynonymous SNV G658S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25 208093 chr1 45476895 45476895 G A rs549377202 HECTD3 Nonsynonymous SNV S12F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 208094 chr1 45797139 45797139 G A rs150792276 MUTYH Nonsynonymous SNV R283C 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 208095 chr3 13364836 13364836 C T rs199752879 NUP210 Nonsynonymous SNV V1581M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.43 208096 chr1 28601408 28601408 G A SESN2 Nonsynonymous SNV E365K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.4 208097 chr8 145740628 145740628 T C rs771839491 RECQL4 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23 208098 chr7 92760794 92760794 A G rs200166375 SAMD9L Synonymous SNV F1497F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 0.002 208099 chr7 95705497 95705497 C T rs376956482 DYNC1I1 Synonymous SNV N526N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 208100 chr1 51613245 51613245 C A rs76431948 C1orf185 Nonsynonymous SNV S134R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 25.8 208101 chr9 4286155 4286155 G C GLIS3 Nonsynonymous SNV L91V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.202 208102 chr7 99722433 99722433 G A rs368820199 CNPY4 Synonymous SNV E223E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.915 208103 chr9 4618014 4618014 C T rs184466780 SPATA6L Nonsynonymous SNV G211R 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 208104 chr7 150027497 150027497 G A rs145565373 ZBED6CL Nonsynonymous SNV V2M 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 208105 chr9 6589286 6589291 CCAGTT - rs778109389 GLDC E495_L496del 0.001 0 0 0 1 0 0 0 0 0 0 0 208106 chr7 150646022 150646022 C A KCNH2 Synonymous SNV L498L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 208107 chr1 3679971 3679971 C T rs148606883 CCDC27 Synonymous SNV Y418Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.61 208108 chr1 55186856 55186858 AAT - rs767549234 TTC4 N138del 0 0.005 0 0 0 2 0 0 0 0 0 0 208109 chr1 36937701 36937701 T C rs3917974 CSF3R Nonsynonymous SNV Q346R 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 Benign 0.494 208110 chr1 36938269 36938269 A G rs3917973 CSF3R Nonsynonymous SNV M231T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 0.003 208111 chr7 150813925 150813925 C T rs930891234 AGAP3 Nonsynonymous SNV P126L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 208112 chr7 150935678 150935678 C T rs146761616 CHPF2 Nonsynonymous SNV R744C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 208113 chr1 55548991 55548991 C T rs61739739 USP24 Nonsynonymous SNV R2310Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 208114 chr3 150128616 150128616 A T TSC22D2 Synonymous SNV S493S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.07 208115 chr8 110393656 110393657 GT - rs1028310361 PKHD1L1 V75Afs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 208116 chr7 156742725 156742725 G A rs180970340 NOM1 Synonymous SNV L98L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.071 208117 chr7 156743073 156743073 C T rs114264548 NOM1 Synonymous SNV D214D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 208118 chr7 156746989 156746989 C G rs115819862 NOM1 Nonsynonymous SNV I436M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 208119 chr1 206650040 206650040 G A rs145501152 IKBKE Nonsynonymous SNV R102Q 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 25.7 208120 chr9 35547151 35547151 T C RUSC2 Synonymous SNV S211S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.524 208121 chr8 1950246 1950246 C T KBTBD11 Synonymous SNV L296L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.453 208122 chr8 121519017 121519017 T C rs145989845 MTBP Nonsynonymous SNV L600S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 208123 chr8 125498234 125498234 G T rs779310914 RNF139 Nonsynonymous SNV G115V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 208124 chr3 170825907 170825907 C G TNIK Nonsynonymous SNV A693P 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 10.49 208125 chr1 68914336 68914336 A G rs61751277 RPE65 Nonsynonymous SNV L22P 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 24.2 208126 chr17 56271379 56271379 G A rs139070509 EPX Nonsynonymous SNV E174K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 208127 chr8 10467333 10467333 G T rs182279724 RP1L1 Nonsynonymous SNV D1425E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.005 208128 chr17 56679826 56679826 C T rs112736617 TEX14 Nonsynonymous SNV V494I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.73 208129 chr17 57466790 57466790 T C rs114373697 YPEL2 Synonymous SNV I77I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.709 208130 chr17 57647964 57647964 G A rs150885026 DHX40 Nonsynonymous SNV M122I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 208131 chr8 133941345 133941345 C T rs755202156 TG Nonsynonymous SNV P1575L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 208132 chr8 134050970 134050970 G T SLA Nonsynonymous SNV D183E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 208133 chr19 35556455 35556455 G T rs760337637 HPN Nonsynonymous SNV G307V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.26 208134 chr3 183882129 183882129 T A rs142016012 DVL3 Synonymous SNV P102P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 11.05 208135 chr19 35648391 35648391 G A rs370975053 FXYD5 Synonymous SNV P43P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.278 208136 chr19 35832794 35832794 C G CD22 Nonsynonymous SNV S477W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.5 208137 chr9 95610068 95610068 C T ZNF484 Nonsynonymous SNV G298E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 208138 chr1 22191361 22191361 G C rs142736845 HSPG2 Nonsynonymous SNV P1535R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 208139 chr1 22198700 22198700 C T rs147768385 HSPG2 Synonymous SNV P1401P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.7 208140 chr1 53730017 53730017 G A rs762057271 LRP8 Synonymous SNV D323D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.45 208141 chr19 36398122 36398122 G C TYROBP Nonsynonymous SNV Q81E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 208142 chr8 144391706 144391706 G A rs151194834 TOP1MT Nonsynonymous SNV R473W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 208143 chr1 54670721 54670721 C T MRPL37 Nonsynonymous SNV T126I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 208144 chr17 66270176 66270176 G C SLC16A6 Nonsynonymous SNV H90D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.1 208145 chr19 37130820 37130820 C T rs202104365 ZNF461 Nonsynonymous SNV A120T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.872 208146 chr8 144944148 144944148 G A rs116816681 EPPK1 Nonsynonymous SNV R1092C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.57 208147 chr8 23174541 23174541 C T rs146017667 LOXL2 Synonymous SNV A519A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.75 208148 chr1 228401166 228401166 G C OBSCN Nonsynonymous SNV R338P 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 208149 chr1 94543437 94543437 G T rs764170051 ABCA4 Nonsynonymous SNV L455M 0 0.005 0 0 0 2 0 0 0 0 0 0 14.51 208150 chr19 38873951 38873951 C T rs571170493 PSMD8 Nonsynonymous SNV P325L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 208151 chr19 38948872 38948872 G A rs773211015 RYR1 Nonsynonymous SNV G703S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Uncertain significance 28.4 208152 chr8 145617891 145617891 G T rs566187079 ADCK5 Nonsynonymous SNV R500L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 208153 chr19 39412038 39412038 T G rs770312701 SARS2 Nonsynonymous SNV K195Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 208154 chr8 145661569 145661569 G A rs140799312 TONSL Synonymous SNV S749S 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 10.07 208155 chr19 40321151 40321151 G A rs770939435 DYRK1B Nonsynonymous SNV S79L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 208156 chr8 30695438 30695438 T C rs139095018 TEX15 Nonsynonymous SNV K2788E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 208157 chr14 104641613 104641613 C G rs200750213 KIF26A Nonsynonymous SNV P830A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.952 208158 chr8 30700203 30700203 A C rs138526021 TEX15 Nonsynonymous SNV S2494A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 208159 chr19 40520472 40520472 G A rs199852460 ZNF546 Nonsynonymous SNV R406H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.05 208160 chr14 105190722 105190722 G A ADSS1 Nonsynonymous SNV A39T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 208161 chr8 38034573 38034573 G T rs1022665390 BAG4 Nonsynonymous SNV W62C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 208162 chr20 1433259 1433259 G A rs145945037 NSFL1C Nonsynonymous SNV L191F 0.002 0.005 0.02 0 2 2 0 6 0 0 0 0 Likely benign 32 208163 chr1 23664343 23664343 T C HNRNPR Synonymous SNV A96A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.13 208164 chr19 41173684 41173684 C T rs757456532 NUMBL Nonsynonymous SNV V466M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.4 208165 chr9 117068895 117068895 G A rs150455755 COL27A1 Synonymous SNV T1678T 0.005 0 0.007 0 6 0 0 2 0 0 0 0 Benign 15.04 208166 chr19 41939286 41939286 C T rs782763663 DMAC2 Nonsynonymous SNV D136N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 208167 chr1 84988085 84988088 ACTT - rs754804703 SPATA1 T54Yfs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 208168 chr1 85412722 85412722 C T rs146406791 MCOLN2 Nonsynonymous SNV G281R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 33 208169 chr19 44099066 44099066 G A IRGQ Nonsynonymous SNV A142V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.1 208170 chr19 44117961 44117961 C T rs189487564 SRRM5 Nonsynonymous SNV P563L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.3 208171 chr8 25265581 25265581 G A rs139203317 DOCK5 Nonsynonymous SNV E1726K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 208172 chr1 86921138 86921138 A G CLCA2 Nonsynonymous SNV I920M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.638 208173 chr1 53547697 53547697 G A rs776416294 PODN Nonsynonymous SNV R569Q 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 22.3 208174 chr19 44777406 44777406 G A rs141527246 ZNF233 Nonsynonymous SNV C198Y 0 0.005 0 2 0 2 0.005 0 0 0 0 0 19.88 208175 chr1 90400322 90400322 G A rs767402114 LRRC8D Synonymous SNV L565L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.735 208176 chr8 37791960 37791960 G A rs200993967 GOT1L1 Nonsynonymous SNV P373S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 208177 chr8 38458413 38458413 T G rs755703019 RNF5P1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 208178 chr1 915494 915494 C T rs758996080 PERM1 Nonsynonymous SNV E306K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.046 208179 chr8 101730420 101730420 G C rs146343662 PABPC1 Synonymous SNV R94R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.756 208180 chr8 39468121 39468121 A G rs369562039 ADAM18 Nonsynonymous SNV I140V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.279 208181 chr8 48102751 48102751 G A rs952644266 LOC100287846 0 0 0.003 0 0 0 0 1 0 0 0 0 0.774 208182 chr8 110255347 110255347 G A rs200527888 NUDCD1 Nonsynonymous SNV A519V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 208183 chr20 33874407 33874407 G A rs145851406 FAM83C Synonymous SNV S725S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.786 208184 chr3 5024589 5024589 C T rs371986656 BHLHE40 Nonsynonymous SNV R151W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 34 208185 chr19 46177999 46177999 G A rs199583937 GIPR Nonsynonymous SNV R147Q 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 28.4 208186 chr9 135202362 135202362 C T SETX Synonymous SNV L1541L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 208187 chr20 18297421 18297421 G A rs74739058 ZNF133 Synonymous SNV P623P 0.005 0.013 0 2 6 5 0.005 0 0 0 0 0 0.294 208188 chr1 7910974 7910974 C T rs762857373 UTS2 Nonsynonymous SNV E38K 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 208189 chr1 8073667 8073667 C T rs749196844 ERRFI1 Nonsynonymous SNV R331H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 208190 chr9 100075554 100075554 A G rs140801022 CCDC180 Nonsynonymous SNV Q173R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.5 208191 chr3 69105390 69105390 A G UBA3 Synonymous SNV F335F 0.003 0.008 0 2 4 3 0.005 0 0 0 0 0 11.82 208192 chr3 69158262 69158262 G T rs201205115 LMOD3 Nonsynonymous SNV P556Q 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 208193 chr9 111681555 111681555 C G rs746446887 ELP1 Synonymous SNV V95V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 208194 chr10 412345 412345 A G rs376730549 DIP2C Nonsynonymous SNV M713T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 208195 chr9 112151562 112151562 T C rs536342787 PTPN3 Nonsynonymous SNV Q403R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 208196 chr8 144800991 144800991 C T rs536651944 MAPK15 Synonymous SNV D111D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 208197 chr19 50333073 50333073 C T rs776291104 MED25 Nonsynonymous SNV R186W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 208198 chr10 3181186 3181186 T C rs201649168 PITRM1 Nonsynonymous SNV K845E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.03 208199 chr10 5827831 5827831 G C rs752060178 GDI2 Nonsynonymous SNV L146V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 208200 chr10 5929993 5929993 C T ANKRD16 Nonsynonymous SNV G118R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 208201 chr18 3452067 3452067 G A rs202123354 TGIF1 Stop gain W30X 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24 208202 chr20 60897149 60897149 C A rs367932546 LAMA5 Nonsynonymous SNV R2141L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 208203 chr8 145059937 145059937 G A rs199585712 PARP10 Nonsynonymous SNV R142W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 208204 chr14 69520797 69520797 C T rs376381362 DCAF5 Nonsynonymous SNV R868H 0 0 0 2 0 0 0.005 0 0 0 0 0 13.67 208205 chr14 69966877 69966877 C T rs769489820 PLEKHD1 Synonymous SNV S65S 0 0 0 2 0 0 0.005 0 0 0 0 0 18.62 208206 chr14 71205017 71205017 G A rs142599599 MAP3K9 Nonsynonymous SNV R339W 0 0 0 2 0 0 0.005 0 0 0 0 0 33 208207 chr10 14563886 14563886 C T rs149948586 FAM107B Synonymous SNV R87R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 208208 chr9 124064405 124064405 G A rs201102347 GSN Synonymous SNV L103L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.84 208209 chr10 19612966 19612966 C G MALRD1 Nonsynonymous SNV L1170V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 208210 chr9 744505 744505 G A rs114114032 KANK1 Synonymous SNV A1048A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 15.43 208211 chr9 1056920 1056920 C A DMRT2 Nonsynonymous SNV L271M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 208212 chr1 52703169 52703169 T C rs41309181 ZFYVE9 Nonsynonymous SNV V27A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 208213 chr1 52704109 52704109 T A rs77699426 ZFYVE9 Synonymous SNV L340L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.337 208214 chr1 52823546 52823546 C G rs76320728 CC2D1B Nonsynonymous SNV V496L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.2 208215 chr10 27322249 27322253 ACATA - ANKRD26 M1236Rfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 208216 chr1 52839012 52839012 C T rs77077945 ORC1 Synonymous SNV E809E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 11.47 208217 chr1 52940771 52940771 C T rs41294516 TUT4 Synonymous SNV A820A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.87 208218 chr20 8131018 8131018 G A PLCB1 Synonymous SNV K59K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.64 208219 chr18 60384107 60384107 C G rs754927182 PHLPP1 Synonymous SNV P397P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.779 208220 chr9 129977097 129977097 T C rs16929700 RALGPS1 Synonymous SNV D490D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.436 208221 chr9 7165301 7165301 G A rs747465304 KDM4C Nonsynonymous SNV D694N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 208222 chr9 130162230 130162230 C G rs36057295 SLC2A8 Synonymous SNV L157L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.062 208223 chr9 130169476 130169480 AAACT - rs780286876 SLC2A8 T299Rfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 208224 chr1 54605429 54605429 C T rs146671242 CDCP2 Nonsynonymous SNV G372R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 208225 chr1 55251790 55251790 G A rs766901296 TTC22 Nonsynonymous SNV P296S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.377 208226 chr9 17793398 17793398 A G rs375414752 SH3GL2 Synonymous SNV E254E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.439 208227 chr4 13603736 13603736 G A rs140547404 BOD1L1 Synonymous SNV V1596V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 9.501 208228 chr9 21141080 21141080 A G rs147009804 IFNW1 Nonsynonymous SNV W164R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 27.4 208229 chr4 13616295 13616295 C T rs144592389 BOD1L1 Synonymous SNV A233A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 13.55 208230 chr10 46143972 46143972 G A rs150077818 ZFAND4 Synonymous SNV D113D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.62 208231 chr4 144620336 144620336 A C rs768824593 FREM3 Nonsynonymous SNV L498R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.1 208232 chr20 60890262 60890262 G A rs201926183 LAMA5 Synonymous SNV D2623D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.788 208233 chr20 60908272 60908272 C G rs1000529654 LAMA5 Synonymous SNV L1052L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.22 208234 chr20 34770234 34770234 G T rs139137163 EPB41L1 Synonymous SNV P115P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.16 208235 chr1 62914212 62914214 AGG - USP1 G500del 0.001 0 0 0 1 0 0 0 0 0 0 0 208236 chr9 35310517 35310517 C G rs771094380 UNC13B Nonsynonymous SNV S272C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 208237 chr18 77440160 77440160 G C rs201234471 CTDP1 Synonymous SNV G71G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 1.845 208238 chr9 35606911 35606911 C G rs148071240 TESK1 Nonsynonymous SNV P24R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.525 208239 chr18 77623788 77623788 G A rs746404020 KCNG2 Nonsynonymous SNV A41T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.518 208240 chr9 136337167 136337167 C T rs374829115 SLC2A6 Synonymous SNV T438T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 208241 chr1 6635259 6635259 C G rs41307749 TAS1R1 Nonsynonymous SNV S356C 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 15.33 208242 chr21 43504219 43504219 G A rs190302651 UMODL1 Synonymous SNV T115T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.87 208243 chr10 55582200 55582211 AGGAGCAGGAGG - rs761936890 PCDH15 P1719_P1722del 0.002 0 0 0 2 0 0 0 0 0 0 0 208244 chr19 56125894 56125894 - CCA ZNF865 T305_A306insT 0 0.005 0 0 0 2 0 0 0 0 0 0 208245 chr9 77745548 77745548 A G rs777457920 OSTF1 Nonsynonymous SNV S63G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 208246 chr19 5664154 5664154 G A rs368134908 SAFB Nonsynonymous SNV D601N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24 208247 chr21 19638373 19638373 T C rs377191006 CHODL Nonsynonymous SNV F205S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.012 208248 chr21 47337540 47337540 G A rs374299463 PCBP3 Synonymous SNV P213P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 208249 chr19 12760155 12760155 C T rs1008745697 MAN2B1 Synonymous SNV T785T 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 16.94 208250 chr19 12805676 12805676 C T rs760764416 FBXW9 Stop gain W162X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 208251 chr9 19063126 19063126 T C rs762363345 HAUS6 Synonymous SNV E468E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.186 208252 chr21 37766895 37766895 T C rs199719028 CHAF1B Nonsynonymous SNV L143S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.1 208253 chr20 57289717 57289717 G A rs747393412 NPEPL1 Synonymous SNV P468P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.325 208254 chr22 21989192 21989192 G A CCDC116 Synonymous SNV L280L 0 0.005 0 0 0 2 0 0 0 0 0 0 3.663 208255 chr1 9324485 9324485 C T rs146595089 H6PD Nonsynonymous SNV R656W 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.2 208256 chr9 35737920 35737920 T A GBA2 Nonsynonymous SNV H777L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 208257 chr20 60794925 60794925 G A HRH3 Synonymous SNV T34T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.43 208258 chr1 94473808 94473808 C T rs142253670 ABCA4 Nonsynonymous SNV G1961R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 208259 chr9 108246764 108246764 A G FSD1L Synonymous SNV Q157Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.14 208260 chr15 43821381 43821382 AT - MAP1A S2571Pfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 208261 chr15 43821383 43821383 - AA MAP1A Frameshift insertion P2572Tfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 208262 chr21 44192615 44192615 G A rs376767800 PDE9A Nonsynonymous SNV V368M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.463 208263 chr20 1460689 1460689 C T SIRPB2 Nonsynonymous SNV R36K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 208264 chr9 115760510 115760510 C T rs575473956 ZNF883 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.075 208265 chr20 1600538 1600538 G A rs752498686 SIRPB1 Nonsynonymous SNV T18M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.707 208266 chr9 116840459 116840459 G A rs375383797 AMBP Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.186 208267 chr21 45751842 45751842 C T rs369370304 CFAP410 Synonymous SNV A143A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.75 208268 chr21 46057890 46057890 C T rs199609167 KRTAP10-10 Nonsynonymous SNV P186S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 208269 chr22 31042616 31042616 G A rs148808100 SLC35E4 Synonymous SNV A217A 0 0.005 0 0 0 2 0 0 0 0 0 0 11.81 208270 chr20 20552237 20552237 T A RALGAPA2 Nonsynonymous SNV E1007D 0.003 0 0 0 3 0 0 0 0 0 0 0 11.67 208271 chr20 22562980 22562980 G A rs888792049 FOXA2 Synonymous SNV A300A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.059 208272 chr9 96054942 96054942 G A rs563807204 WNK2 Nonsynonymous SNV R1732H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.044 208273 chr22 36900756 36900756 G A rs772133480 FOXRED2 Synonymous SNV S195S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.531 208274 chr9 99580843 99580843 T C rs758276561 ZNF782 Nonsynonymous SNV S464G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.42 208275 chr20 264678 264678 T C rs758364042 C20orf96 Nonsynonymous SNV K77E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.27 208276 chr22 18561342 18561342 A G rs201884779 PEX26 Nonsynonymous SNV N67S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.639 208277 chrUn_gl000220 122149 122149 - CTCCTCCTCCTT LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 208278 chr9 126136014 126136014 C T rs377347664 CRB2 Synonymous SNV D1068D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.96 208279 chrX 10085497 10085497 G A rs776011749 WWC3 Synonymous SNV S466S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.156 208280 chr9 127644159 127644159 G A rs779786911 GOLGA1 Synonymous SNV S680S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 208281 chr9 129453295 129453295 C T rs368298608 LMX1B Synonymous SNV Y169Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 208282 chr22 21157501 21157501 C G PI4KA Nonsynonymous SNV K501N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 208283 chr9 130479994 130479994 A G TTC16 Synonymous SNV S110S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.465 208284 chr20 33879798 33879798 G A rs984033793 FAM83C Nonsynonymous SNV R104C 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 208285 chr9 131482697 131482697 G A rs767580528 PKN3 Nonsynonymous SNV R813H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 208286 chr22 43936088 43936088 G A rs144783076 EFCAB6 Synonymous SNV D1114D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.557 208287 chr21 43508437 43508437 G A rs202122975 UMODL1 Nonsynonymous SNV V213I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.249 208288 chr19 2435039 2435039 C T rs142557433 LMNB2 Nonsynonymous SNV R272Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 20.5 208289 chr19 2444510 2444510 G A rs200680198 LMNB2 Nonsynonymous SNV S98L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 208290 chrX 150067038 150067038 G A rs183192693 CD99L2 Synonymous SNV F8F 0 0 0.01 3 0 0 0.008 3 0 0 1 0 14.84 208291 chr22 31331138 31331138 C T rs781443418 MORC2 Nonsynonymous SNV R608H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 208292 chrX 152113854 152113854 G A rs781800037 ZNF185 Nonsynonymous SNV G56R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.109 208293 chr4 81123283 81123283 C T PRDM8 Nonsynonymous SNV P223S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.07 208294 chrX 152612810 152612810 C T rs782734867 ZNF275 Nonsynonymous SNV H223Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 208295 chrX 152845611 152845611 C T rs149428057 ATP2B3 Nonsynonymous SNV A1173V 0 0 0.017 0 0 0 0 5 0 0 1 0 Benign 19.98 208296 chr21 45557107 45557107 C A GATD3A, GATD3B Nonsynonymous SNV D33E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.18 208297 chrX 153549200 153549200 A G TKTL1 Nonsynonymous SNV I320V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.372 208298 chrX 153690570 153690570 G A rs36115591 PLXNA3 Nonsynonymous SNV G413S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.2 208299 chrX 21674400 21674400 C T rs754052481 KLHL34 Nonsynonymous SNV E503K 0 0 0.007 0 0 0 0 2 0 0 0 0 19.05 208300 chr22 37769523 37769523 G A ELFN2 Synonymous SNV S684S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.676 208301 chr21 47552388 47552388 C T rs145460820 COL6A2 Synonymous SNV A994A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 14.12 208302 chrX 40691633 40691633 - G LOC100132831 0 0 0.01 0 0 0 0 3 0 0 0 0 208303 chr4 91229832 91229832 G C rs114592140 CCSER1 Nonsynonymous SNV E133Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 25.6 208304 chr9 139925599 139925599 G T rs775867156 FUT7 Synonymous SNV R198R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.597 208305 chr22 41573411 41573411 G A EP300 Nonsynonymous SNV G1873D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 208306 chr9 140087121 140087121 T C rs139459217 TPRN Nonsynonymous SNV K583R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 23.9 208307 chr9 140173878 140173878 G A rs201969591 TOR4A Nonsynonymous SNV R246H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.846 208308 chr11 556093 556093 C T rs201667162 LMNTD2 Nonsynonymous SNV S427N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.249 208309 chrX 73067655 73067655 G C rs201357240 XIST 0 0 0.007 0 0 0 0 2 0 0 0 0 1.664 208310 chr9 140417235 140417235 C T rs200223305 PNPLA7 Synonymous SNV A249A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 208311 chr5 111481623 111481623 C A rs141453257 EPB41L4A Nonsynonymous SNV V669F 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 6.334 208312 chr15 90801345 90801345 C T TTLL13P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.941 208313 chr15 90904361 90904376 GTCCTGAGTGTGGCAA - rs767114345 ZNF774 Stop gain C433* 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 208314 chr2 118854165 118854165 C A rs761063692 INSIG2 Synonymous SNV P11P 0 0.003 0 0 0 1 0 0 0 0 0 0 13 208315 chr5 115361717 115361717 A G rs372264254 LVRN Nonsynonymous SNV I959V 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.004 208316 chr10 101715993 101715993 G C rs148099898 DNMBP Nonsynonymous SNV S413C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 208317 chr1 151138669 151138669 A G rs149471504 SCNM1 Nonsynonymous SNV N14S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 208318 chr10 108427518 108427518 C T rs751133479 SORCS1 Synonymous SNV P744P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.4 208319 chr20 62329821 62329821 G - TNFRSF6B A271Rfs*61 0.002 0 0 0 2 0 0 0 0 0 0 0 208320 chr22 50659548 50659548 G A rs145410588 TUBGCP6 Synonymous SNV H1080H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.732 208321 chr5 137906816 137906816 G A rs34916633 HSPA9 Synonymous SNV A81A 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 15.33 208322 chr10 117853294 117853294 A G rs562096422 GFRA1 Nonsynonymous SNV W191R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 208323 chr11 1033013 1033013 C T rs746295147 MUC6 Nonsynonymous SNV A39T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.923 208324 chr10 126631517 126631517 A G rs77656372 ZRANB1 Nonsynonymous SNV H152R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.284 208325 chr10 128788844 128788844 A C DOCK1 Synonymous SNV T150T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 208326 chr11 2411653 2411653 C A rs34400531 CD81 Synonymous SNV G26G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 208327 chr10 33502362 33502362 G A rs149438902 NRP1 Synonymous SNV N522N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 208328 chr11 2427297 2427297 G A rs200741906 TRPM5 Synonymous SNV L1092L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.325 208329 chr10 38121612 38121612 T C rs369540925 ZNF248 Nonsynonymous SNV H224R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.586 208330 chr2 168114624 168114624 G T rs187579128 XIRP2 Nonsynonymous SNV R301M 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.091 208331 chr5 147486725 147486725 G T rs201831966 SPINK5 Synonymous SNV V535V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 7.439 208332 chr22 41742209 41742209 C T rs140000532 ZC3H7B Synonymous SNV C554C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.67 208333 chr10 134628411 134628411 G A rs777783771 CFAP46 Synonymous SNV G2375G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.745 208334 chr10 46999679 46999679 G A rs141945581 GPRIN2 Nonsynonymous SNV E267K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 208335 chr2 118771534 118771534 G C CCDC93 Nonsynonymous SNV P13R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.82 208336 chr2 179395926 179395926 G A rs200782068 TTN Nonsynonymous SNV T26074I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 21.5 208337 chr2 179397654 179397654 A G rs55945684 TTN Nonsynonymous SNV V25498A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.47 208338 chr2 179399181 179399181 A G TTN Nonsynonymous SNV L24989S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 208339 chr2 179400106 179400106 G A rs199594729 TTN Nonsynonymous SNV R24681C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.4 208340 chr10 50040723 50040723 G A rs765669221 WDFY4 Nonsynonymous SNV R2211Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29 208341 chr2 179605402 179605402 T C rs72648921 TTN Synonymous SNV P3823P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 0.018 208342 chr10 15107752 15107752 C T rs141933979 OLAH Nonsynonymous SNV T191I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 208343 chr10 54076535 54076535 T C rs780722183 DKK1 Nonsynonymous SNV S257P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 208344 chr16 3349111 3349111 A T rs925411763 TIGD7 Nonsynonymous SNV F502I 0 0 0 4 0 0 0.01 0 0 0 0 0 22.9 208345 chr10 71075744 71075744 C T rs756166032 HK1 Stop gain R12X 0.001 0 0 0 1 0 0 0 0 0 0 0 9.084 208346 chr5 16761607 16761607 G A MYO10 Stop gain R569X 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 38 208347 chr10 32561976 32561976 C T rs200404179 EPC1 Nonsynonymous SNV R633H 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 208348 chr10 46122293 46122293 G A rs376194748 ZFAND4 Synonymous SNV N326N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.517 208349 chr10 468916 468916 G A rs748682540 DIP2C Nonsynonymous SNV P151L 0 0 0.007 0 0 0 0 2 0 0 0 0 18.32 208350 chr11 6559847 6559847 C T DNHD1 Synonymous SNV S1044S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.726 208351 chr16 50187752 50187752 - CGGCCC rs767830756 TENT4B A81_G82insPA 0 0 0 1 0 0 0.003 0 0 0 0 0 208352 chr11 6623278 6623278 C T rs77325306 RRP8 Synonymous SNV G89G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 208353 chr2 202744816 202744816 G T CDK15 Nonsynonymous SNV R375L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 208354 chr16 50813626 50813626 C T rs149427272 CYLD Nonsynonymous SNV R394C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 208355 chr2 168107990 168107990 A G rs201465371 XIRP2 Nonsynonymous SNV N3141S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.868 208356 chr1 176999998 176999998 G T rs749468572 ASTN1 Nonsynonymous SNV T319N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 208357 chr10 50966440 50966440 G A OGDHL Nonsynonymous SNV H67Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 208358 chr10 60549667 60549667 G C BICC1 Nonsynonymous SNV V341L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 208359 chr11 10503761 10503761 A G AMPD3 Nonsynonymous SNV E34G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 208360 chr10 6258102 6258102 C G rs760834564 PFKFB3 Nonsynonymous SNV A85G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 208361 chr2 179499489 179499489 C T TTN Nonsynonymous SNV A4973T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 208362 chr10 70940161 70940161 T C SUPV3L1 Synonymous SNV V38V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 208363 chr2 219498394 219498394 C T rs199581087 PLCD4 Nonsynonymous SNV R506C 0 0.005 0 0 0 2 0 0 0 0 0 0 22.1 208364 chr10 72434489 72434489 G A rs61754837 ADAMTS14 Nonsynonymous SNV R87H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 208365 chr10 72543117 72543117 A G rs371277758 TBATA Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.915 208366 chr2 18112935 18112935 G A rs145593758 KCNS3 Synonymous SNV P220P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.306 208367 chr1 197128756 197128756 C T rs149802327 ZBTB41 Synonymous SNV P821P 0 0.005 0 0 0 2 0 0 0 0 0 0 1.575 208368 chr2 183993018 183993018 C A rs779183582 NUP35 Nonsynonymous SNV S15Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 208369 chr2 148696765 148696765 T C rs200239981 ORC4 Nonsynonymous SNV D217G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 208370 chr10 73848014 73848014 C A rs770205711 SPOCK2 Nonsynonymous SNV D25Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 208371 chr22 37603540 37603540 G A SSTR3 Synonymous SNV A101A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.439 208372 chr10 76863766 76863766 C T rs528963956 DUSP13 Synonymous SNV A23A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.245 208373 chr16 733735 733735 C A rs1049728400 JMJD8 Nonsynonymous SNV G61V 0 0 0 4 0 0 0.01 0 0 0 0 0 23.5 208374 chr11 30926669 30926669 A C rs148521043 DCDC1 Nonsynonymous SNV Y490D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 208375 chr1 202130626 202130626 C T rs753993787 PTPN7 Synonymous SNV Q21Q 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 15.16 208376 chr10 91469106 91469106 G A rs755646052 KIF20B Nonsynonymous SNV C80Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 208377 chr1 203014977 203014977 C T rs748540786 PPFIA4 Synonymous SNV A289A 0 0.005 0 0 0 2 0 0 0 0 0 0 13.36 208378 chr11 44640616 44640616 G C rs74885383 CD82 Synonymous SNV L223L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.82 208379 chr11 45924293 45924293 G A rs759905247 MAPK8IP1 Synonymous SNV P325P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.21 208380 chr10 124066791 124066791 G A rs60306660 BTBD16 Synonymous SNV P294P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.653 208381 chr10 126384749 126384749 - GTA FAM53B T37_L38insT 0.001 0 0 0 1 0 0 0 0 0 0 0 208382 chr2 207509108 207509108 T C FAM237A Nonsynonymous SNV W50R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.25 208383 chr22 46782340 46782340 C T rs190281317 CELSR1 Nonsynonymous SNV R2233Q 0.003 0 0 5 3 0 0.013 0 0 0 0 0 18.35 208384 chr2 214228822 214228822 T C SPAG16 Nonsynonymous SNV L262S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.026 208385 chr2 216262429 216262429 G A rs183891852 FN1 Nonsynonymous SNV A1164V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.64 208386 chr11 102195645 102195645 T C rs199804199 BIRC3 Synonymous SNV R135R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 208387 chr6 108395543 108395543 T C rs375602860 OSTM1 Nonsynonymous SNV S105G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.06 208388 chr2 18758102 18758102 C A NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV A363S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 208389 chr11 104822732 104822732 G C rs758747021 CASP4 Nonsynonymous SNV A88G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 208390 chr11 108361869 108361869 G C rs377503322 POGLUT3 Synonymous SNV V76V 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 2.863 208391 chr17 10535011 10535011 G A MYH3 Nonsynonymous SNV L1735F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.9 208392 chr19 7676675 7676675 G C CAMSAP3 Synonymous SNV S432S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.117 208393 chr2 196883925 196883925 C T rs2375643 DNAH7 Nonsynonymous SNV A280T 0 0.008 0 0 0 3 0 0 0 0 0 0 20.1 208394 chr1 2337993 2337993 C T PEX10 Nonsynonymous SNV R281K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 208395 chr2 32689829 32689829 G A rs61757640 BIRC6 Nonsynonymous SNV V1732I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 18.53 208396 chr2 232672281 232672281 C A rs746650324 COPS7B Nonsynonymous SNV P186T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 208397 chr2 233321655 233321655 C A ALPI Nonsynonymous SNV T116K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 208398 chr2 120409614 120409614 A G rs373528164 CFAP221 Nonsynonymous SNV M795V 0.003 0 0.007 0 3 0 0 2 0 0 0 0 1.275 208399 chr6 13470853 13470853 T C rs188359878 GFOD1 Nonsynonymous SNV H88R 0.004 0.01 0 2 5 4 0.005 0 0 0 0 0 1.575 208400 chr11 56237921 56237921 C T rs142752109 OR5M3 Nonsynonymous SNV R18H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 208401 chr1 2411353 2411353 G A rs369208976 PLCH2 Nonsynonymous SNV R124H 0.001 0.01 0 0 1 4 0 0 0 0 0 0 25.9 208402 chr2 48808990 48808990 A G rs375059931 STON1, STON1-GTF2A1L Synonymous SNV P406P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.083 208403 chr11 124500650 124500650 - G rs750772344 TBRG1 Frameshift insertion M283Dfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 208404 chr11 57996029 57996029 A G OR10Q1 Nonsynonymous SNV F107L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 208405 chr11 58979641 58979641 C T rs200732824 MPEG1 Nonsynonymous SNV R233H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 208406 chr11 59245250 59245250 G A rs763075726 OR4D10 Synonymous SNV S116S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.118 208407 chr11 59283021 59283021 C T rs199653664 OR4D9 Synonymous SNV F212F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.713 208408 chr1 248113079 248113079 T G rs148701130 OR2L8 Nonsynonymous SNV I307S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.98 208409 chr6 160328255 160328255 G A rs769642224 MAS1 Nonsynonymous SNV D90N 0 0.005 0 0 0 2 0 0 0 0 0 0 21.2 208410 chr2 169733775 169733775 T G rs202047860 SPC25 Nonsynonymous SNV K107Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 208411 chr11 17135939 17135939 G A rs200808937 PIK3C2A Nonsynonymous SNV P717L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 208412 chr2 73717921 73717921 C G rs35062203 ALMS1 Nonsynonymous SNV N2944K 0.002 0.008 0.003 4 2 3 0.01 1 0 0 0 0 Benign/Likely benign 0.085 208413 chr11 5424041 5424041 C T rs114782317 OR51J1 Nonsynonymous SNV A72V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.58 208414 chr6 166743729 166743729 C T rs533249665 SFT2D1 Nonsynonymous SNV D24N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.1 208415 chr1 24981585 24981585 G A rs145750269 SRRM1 Nonsynonymous SNV R344H 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 25.4 208416 chr11 18955665 18955665 G A rs112335646 MRGPRX1 Synonymous SNV L223L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.963 208417 chr2 85554236 85554236 G A TGOLN2 Nonsynonymous SNV P207S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 208418 chr2 33477832 33477832 C T rs61754244 LTBP1 Synonymous SNV H370H 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 13.91 208419 chr11 20948953 20948953 G A rs11820003 NELL1 Nonsynonymous SNV V230I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 17.23 208420 chr11 64337158 64337158 C T rs779432930 SLC22A11 Nonsynonymous SNV R365W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 208421 chr1 27875684 27875684 G A rs555542437 AHDC1 Synonymous SNV F981F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.104 208422 chr2 234869523 234869523 C T rs76512385 TRPM8 Nonsynonymous SNV T489I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26.8 208423 chr11 64674254 64674254 C T rs755811737 ATG2A Nonsynonymous SNV G948R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 208424 chr11 6129409 6129409 G A rs61743916 OR56B4 Nonsynonymous SNV R134H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.835 208425 chr2 97026367 97026367 T A NCAPH Nonsynonymous SNV N366K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 208426 chr2 97278612 97278612 C T KANSL3 Synonymous SNV V57V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.96 208427 chr11 6239881 6239881 G A rs35932378 FAM160A2 Nonsynonymous SNV R462W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 208428 chr11 64810511 64810511 A G SAC3D1 Nonsynonymous SNV M197V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.755 208429 chr1 32150199 32150199 C T rs758352657 COL16A1 Synonymous SNV T695T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.11 208430 chr11 31805038 31805038 T C rs200018893 ELP4 Nonsynonymous SNV M414T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.84 208431 chr1 33117522 33117522 C T rs200303004 RBBP4 Synonymous SNV F7F 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 15.41 208432 chr2 48896966 48896966 G A GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV G328R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 208433 chr6 26451927 26451927 C T rs199818322 BTN3A3 Nonsynonymous SNV T138M 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.4 208434 chr2 61147242 61147242 A G rs201469645 REL Nonsynonymous SNV H307R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.491 208435 chr1 35260085 35260085 G T rs777931705 GJA4 Nonsynonymous SNV V91F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.9 208436 chr6 33626840 33626840 G A rs776052649 ITPR3 Nonsynonymous SNV G191R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 208437 chr11 67048203 67048203 C T rs201891739 GRK2 Synonymous SNV S168S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.37 208438 chr2 63631727 63631727 A G WDPCP Synonymous SNV Y138Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.018 208439 chr1 151403244 151403244 T C rs145173739 POGZ Synonymous SNV T66T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 4.048 208440 chr2 242402857 242402857 C T rs138838419 FARP2 Synonymous SNV R595R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 19.84 208441 chr11 46726142 46726142 G T ZNF408 Nonsynonymous SNV G290C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 208442 chr2 242757705 242757705 C T rs189778979 NEU4 Synonymous SNV P275P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.31 208443 chr11 71146481 71146481 G A rs144562471 DHCR7 Synonymous SNV G456G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.879 208444 chr6 38758109 38758109 G A rs140047863 DNAH8 Synonymous SNV S686S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 8.764 208445 chr11 74717537 74717537 A T rs180878536 NEU3 X462Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.51 208446 chr11 18034501 18034501 G A rs958993868 SERGEF Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 208447 chr6 42225902 42225902 C A rs202021175 TRERF1 Synonymous SNV G789G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 18.83 208448 chr2 84926753 84926753 G T DNAH6 Nonsynonymous SNV K2571N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.57 208449 chr1 47276489 47276489 A G rs761418263 CYP4B1 Nonsynonymous SNV T64A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.087 208450 chr1 155324330 155324330 T C ASH1L Nonsynonymous SNV I2388V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.56 208451 chr11 82888844 82888844 A T rs372080573 PCF11 Synonymous SNV T1453T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.972 208452 chr11 24998138 24998138 C T rs572470818 LUZP2 Nonsynonymous SNV A133V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 208453 chr2 3727487 3727487 G A rs769807402 ALLC Synonymous SNV G67G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.847 208454 chr2 3749222 3749222 C T rs774707769 ALLC Nonsynonymous SNV T324I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 208455 chr11 95562429 95562429 - TGT CEP57 E376_A377insC 0.001 0 0 0 1 0 0 0 0 0 0 0 208456 chr11 95562431 95562431 C A rs898167932 CEP57 Nonsynonymous SNV A377E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 208457 chr11 5246867 5246867 C A HBB Synonymous SNV V135V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 208458 chr11 40137800 40137800 C T rs72885369 LRRC4C Nonsynonymous SNV G15S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 208459 chr3 108278871 108278871 T C rs141861595 CIP2A Nonsynonymous SNV K611R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.15 208460 chr11 45246390 45246390 T C rs375224612 PRDM11 Synonymous SNV P455P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.443 208461 chr11 103814197 103814197 T C rs149646361 PDGFD Nonsynonymous SNV H252R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 14.62 208462 chr17 56274551 56274551 C T rs34607215 EPX Synonymous SNV F351F 0 0 0 2 0 0 0.005 0 0 0 0 0 7.326 208463 chr11 48267049 48267049 G T rs1050007917 OR4X2 Nonsynonymous SNV V132L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.565 208464 chr11 55735421 55735421 C T rs75943754 OR10AG1 Synonymous SNV P173P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.47 208465 chr3 114069761 114069761 G C rs144663365 ZBTB20 Nonsynonymous SNV D388E 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 Benign/Likely benign 21.2 208466 chr11 117776367 117776367 G A TMPRSS13 Nonsynonymous SNV T421I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 208467 chr11 117789539 117789539 T C rs74585113 TMPRSS13 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 208468 chr2 233412871 233412871 C T rs377463072 TIGD1 Synonymous SNV S574S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.61 208469 chr11 121032853 121032853 C T rs200367148 TECTA Synonymous SNV I1682I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.7 208470 chr1 878137 878137 C T rs992819326 SAMD11 Synonymous SNV P421P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.225 208471 chr11 5655047 5655047 C T rs754206413 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV A146V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.98 208472 chr3 168833471 168833471 A G rs184774246 MECOM Nonsynonymous SNV V542A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 208473 chr2 96795701 96795701 G A rs543411711 ASTL Nonsynonymous SNV R246C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 208474 chr3 182740270 182740270 C G MCCC1 Nonsynonymous SNV V485L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.81 208475 chr2 98887339 98887339 C T rs201796667 VWA3B Nonsynonymous SNV P670L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.317 208476 chr11 129993594 129993594 G A rs542688342 APLP2 Nonsynonymous SNV R337H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 208477 chr3 182925402 182925402 G T rs770626336 MCF2L2 Synonymous SNV T902T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.563 208478 chr2 99779172 99779172 C T LIPT1 Nonsynonymous SNV T251M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.144 208479 chr11 59245304 59245304 T C rs150157498 OR4D10 Synonymous SNV T134T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.42 208480 chr11 60070182 60070182 A C rs200947019 MS4A4A Nonsynonymous SNV I180L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.649 208481 chr1 182026321 182026321 G T ZNF648 Synonymous SNV A275A 0 0 0 2 0 0 0.005 0 0 0 0 0 10.48 208482 chr1 182763576 182763576 T - rs761806358 NPL 0 0 0 2 0 0 0.005 0 0 0 0 0 208483 chr3 111312832 111312832 T C rs34219871 ZBED2 Nonsynonymous SNV N73D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 208484 chr12 6618900 6618900 C T rs550146120 NCAPD2 Stop gain R49X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 208485 chr12 7286338 7286338 C T rs369094080 CLSTN3 Synonymous SNV D119D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 208486 chr1 197297608 197297608 T C CRB1 Nonsynonymous SNV S43P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 208487 chr1 19972486 19972486 G A rs140114169 NBL1 Synonymous SNV L14L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.1 208488 chr11 64509494 64509494 T A rs749896674 RASGRP2 Nonsynonymous SNV K55M 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 208489 chr11 64656569 64656569 C A rs756470897 MIR194-2HG 0 0 0.01 0 0 0 0 3 0 0 0 0 13.18 208490 chr20 31600667 31600667 G A rs778593567 BPIFB2 Nonsynonymous SNV G88R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 208491 chr12 10862595 10862595 T G rs144215756 YBX3 Nonsynonymous SNV Q231P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.02 208492 chr11 65414083 65414083 C G rs767419634 SIPA1 Synonymous SNV A526A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.28 208493 chr12 11150404 11150404 T C rs780278431 TAS2R20 Nonsynonymous SNV N24S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 208494 chr17 7814206 7814206 G A rs752811295 CHD3 Synonymous SNV G1898G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.401 208495 chr11 66235714 66235714 G C rs148294193 PELI3 Nonsynonymous SNV E39Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.41 208496 chr17 78302198 78302198 A G rs777039786 RNF213 Synonymous SNV E1146E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 2.012 208497 chr17 78306237 78306237 C A rs770471430 RNF213 Nonsynonymous SNV L1317M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 208498 chr1 20644042 20644042 G A rs201427535 VWA5B1 Nonsynonymous SNV G195S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.22 208499 chr12 25357173 25357173 A C rs769851983 ETFRF1 Nonsynonymous SNV E67A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 208500 chr11 71806094 71806094 G A rs367956242 LRTOMT Nonsynonymous SNV R112H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 208501 chr3 186980459 186980459 G T rs765885963 MASP1 Nonsynonymous SNV T96K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 208502 chr3 187446312 187446312 C T rs143522266 BCL6 Nonsynonymous SNV R459H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 208503 chr2 71740851 71740851 G A rs200970855 DYSF Nonsynonymous SNV G156R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 208504 chr12 33592335 33592335 G T SYT10 Nonsynonymous SNV D41E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.59 208505 chr11 63449130 63449130 A T RTN3 Nonsynonymous SNV T8S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 208506 chr11 63488073 63488073 G T rs754876856 RTN3 Nonsynonymous SNV G588V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.406 208507 chr11 63533610 63533610 C A rs1035608130 C11orf95 Synonymous SNV R102R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 208508 chr20 47570184 47570184 G A rs140989375 ARFGEF2 Nonsynonymous SNV R232H 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 9.136 208509 chr2 79312639 79312639 C T REG1B Nonsynonymous SNV A138T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 208510 chr3 148562470 148562470 T C rs73866671 CPB1 Nonsynonymous SNV F232L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.45 208511 chr11 64673278 64673278 A G rs141049352 ATG2A Nonsynonymous SNV Y1095H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 208512 chr11 64674003 64674003 C T rs202106316 ATG2A Nonsynonymous SNV A988T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.3 208513 chr18 10471789 10471789 C T rs200405895 APCDD1 Nonsynonymous SNV R169C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 208514 chr11 7846820 7846820 G A rs779097676 OR5P3 Nonsynonymous SNV R234C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 208515 chr3 4859800 4859800 C A rs769491699 ITPR1 Synonymous SNV V2571V 0 0.005 0 0 0 2 0 0 0 0 0 0 11.82 208516 chr1 225155175 225155175 C T rs370187831 DNAH14 Nonsynonymous SNV R131W 0 0 0 3 0 0 0.008 0 0 0 0 0 31 208517 chr18 20716468 20716468 C T rs751246021 CABLES1 Synonymous SNV L248L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 208518 chr7 152346287 152346287 T C rs140214637 XRCC2 Nonsynonymous SNV I95V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 208519 chr11 86663348 86663348 T G rs773169981 FZD4 Synonymous SNV P150P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.188 208520 chr1 228003887 228003887 T C PRSS38 Nonsynonymous SNV L82P 0 0 0 3 0 0 0.008 0 0 0 0 0 10.8 208521 chr11 67402588 67402588 G C rs147388176 TBX10 Nonsynonymous SNV P52A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 208522 chr3 10452366 10452366 C A rs145348700 ATP2B2 Synonymous SNV L111L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 13.84 208523 chr11 68837945 68837945 A T rs750321261 TPCN2 Nonsynonymous SNV I293L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 208524 chr3 182913012 182913012 C T rs755749537 MCF2L2 Synonymous SNV T972T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.298 208525 chr11 69588175 69588175 G A rs150074947 FGF4 Nonsynonymous SNV P175S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 208526 chr11 95512085 95512085 T C rs61732594 FAM76B Synonymous SNV T242T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.492 208527 chr11 95657065 95657065 C T rs372164252 MTMR2 Synonymous SNV R18R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.27 208528 chr12 102011003 102011003 G A rs201216780 MYBPC1 Nonsynonymous SNV G17R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 208529 chr3 184429593 184429593 T C rs754848876 MAGEF1 Nonsynonymous SNV E6G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 208530 chr7 26400590 26400590 T C rs184384013 SNX10 Nonsynonymous SNV L4S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 13.15 208531 chr1 235972481 235972481 C T rs751609899 LYST Nonsynonymous SNV R546Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 208532 chr12 53775518 53775518 A G rs374043734 SP1 Nonsynonymous SNV N28S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 208533 chr12 54332807 54332807 G C rs776545244 HOXC13 Synonymous SNV T39T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 208534 chr1 237729923 237729923 G A rs730880191 RYR2 Nonsynonymous SNV E1091K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 34 208535 chr12 109309562 109309562 G A SVOP Synonymous SNV A426A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.587 208536 chr11 85687719 85687719 G C rs147556602 PICALM Nonsynonymous SNV P495A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.265 208537 chr12 10978374 10978374 G A rs777675815 TAS2R10 Synonymous SNV N165N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.753 208538 chr12 110206460 110206460 G A FAM222A Nonsynonymous SNV M242I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.99 208539 chr18 5891419 5891419 G A TMEM200C Nonsynonymous SNV A215V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 208540 chr12 11214433 11214433 C G rs772876380 TAS2R46 Nonsynonymous SNV W154S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 208541 chr11 93432189 93432189 G A CEP295 Nonsynonymous SNV E1371K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 208542 chr12 114804184 114804184 G A rs370805715 TBX5 Synonymous SNV P206P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 208543 chr12 116422049 116422049 G A rs141892892 MED13L Synonymous SNV S1489S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 13.01 208544 chr21 37586446 37586446 G A rs145172682 DOP1B Synonymous SNV S324S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.829 208545 chr21 41173222 41173222 C T rs146703590 IGSF5 Nonsynonymous SNV H388Y 0 0.008 0.003 0 0 3 0 1 0 0 0 0 10.65 208546 chr18 7023349 7023349 G A rs143031283 LAMA1 Nonsynonymous SNV P839S 0 0 0 1 0 0 0.003 0 0 0 0 0 31 208547 chr11 102575442 102575442 C T rs553456217 MMP27 Nonsynonymous SNV R56K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.848 208548 chr7 47851578 47851578 G A rs140456142 PKD1L1 Nonsynonymous SNV S2473F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.5 208549 chr12 123214117 123214117 T C rs141008238 HCAR1 Nonsynonymous SNV H257R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.168 208550 chr7 48018176 48018176 G A rs777745119 HUS1 Synonymous SNV N44N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.13 208551 chr12 123341034 123341034 C T rs372462877 HIP1R Nonsynonymous SNV A486V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 208552 chr3 39307429 39307429 C T rs768761417 CX3CR1 Nonsynonymous SNV R191H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 208553 chr12 95528593 95528593 G A rs117456480 FGD6 Nonsynonymous SNV R1002C 0.001 0.003 0.003 5 1 1 0.013 1 0 0 0 0 34 208554 chr12 132636159 132636159 C T rs564077156 NOC4L Nonsynonymous SNV R402W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.6 208555 chr11 118373264 118373264 G A rs199606724 KMT2A Synonymous SNV G2219G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.211 208556 chr12 18841130 18841130 G C PLCZ1 Nonsynonymous SNV P302R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 208557 chr11 121023647 121023647 G A rs150016625 TECTA Nonsynonymous SNV R1388H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 208558 chr22 21174144 21174144 G A rs764843454 PI4KA Stop gain R192X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 208559 chr4 147561189 147561189 C T rs139883264 POU4F2 Synonymous SNV A153A 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 13.9 208560 chr3 47610616 47610616 C T rs368019591 CSPG5 Nonsynonymous SNV R495H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 208561 chr1 36786083 36786083 A G SH3D21 Nonsynonymous SNV N496D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.323 208562 chr3 9959673 9959673 A G IL17RC Nonsynonymous SNV H65R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 208563 chr11 132306610 132306610 C T rs141333534 OPCML Nonsynonymous SNV S243N 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 24 208564 chr3 183860871 183860871 G A rs114216498 EIF2B5 Synonymous SNV Q562Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.89 208565 chr3 183906916 183906916 C T rs150245456 ABCF3 Nonsynonymous SNV R334W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 208566 chr3 18391128 18391128 G A rs760614100 SATB1 Nonsynonymous SNV P537L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.569 208567 chr12 50745558 50745558 T C FAM186A Nonsynonymous SNV K1686R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 208568 chr12 126004129 126004129 C T rs371482632 TMEM132B Synonymous SNV F417F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 208569 chr3 53834380 53834380 T A rs748990289 CACNA1D Nonsynonymous SNV D1661E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.634 208570 chr4 113352458 113352458 C T rs371549720 ALPK1 Synonymous SNV N507N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.65 208571 chr12 133151130 133151130 C T rs371732785 FBRSL1 Nonsynonymous SNV R604C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 208572 chr1 52823266 52823266 G A rs754445009 CC2D1B Nonsynonymous SNV R562W 0 0.005 0 3 0 2 0.008 0 0 0 0 0 33 208573 chr4 120483988 120483988 G A rs202158238 PDE5A Synonymous SNV S377S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 208574 chr4 1988038 1988038 C T rs753927968 NELFA Synonymous SNV P242P 0 0.005 0 0 0 2 0 0 0 0 0 0 13.73 208575 chr13 25743979 25743979 G A AMER2 Synonymous SNV T593T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.389 208576 chr22 42159314 42159314 A G MEI1 Nonsynonymous SNV T753A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 208577 chr12 54520051 54520051 G A rs113281968 LINC02381 0 0 0.01 0 0 0 0 3 0 0 0 0 20.5 208578 chr4 36309995 36309995 C T DTHD1 Stop gain Q369X 0 0.005 0 0 0 2 0 0 0 0 0 0 36 208579 chr3 99536717 99536717 G A HP09053 0 0.003 0 0 0 1 0 0 0 0 0 0 5.794 208580 chr12 13215829 13215829 G A rs144407026 FAM234B Nonsynonymous SNV A258T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 208581 chr13 43528133 43528133 T - EPSTI1 R45Dfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 208582 chr4 4304646 4304646 C T rs577987301 ZBTB49 Synonymous SNV V361V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 208583 chr4 436784 436784 T C ZNF721 Nonsynonymous SNV H491R 0 0.005 0 0 0 2 0 0 0 0 0 0 19.71 208584 chr13 46563228 46563228 T G ZC3H13 Nonsynonymous SNV T317P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 208585 chr12 6425545 6425545 T C rs61753337 PLEKHG6 Nonsynonymous SNV I212T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 208586 chr13 50586589 50586589 C A rs371513812 TRIM13 Synonymous SNV S171S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 208587 chr1 78444618 78444629 CCACCACCGCCG - rs762540975 FUBP1 G23_G26del 0.003 0.003 0 7 3 1 0.018 0 0 0 0 0 208588 chr4 5624705 5624705 C T rs144420242 EVC2 Nonsynonymous SNV R607H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 26 208589 chr12 32480961 32480961 A G rs371729096 BICD1 Synonymous SNV L524L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.272 208590 chr1 87805282 87805282 C T LMO4 Synonymous SNV V100V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.39 208591 chr4 126241446 126241446 C T FAT4 Nonsynonymous SNV P1294S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.229 208592 chr8 144942253 144942253 G A rs368824447 EPPK1 Synonymous SNV D1723D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.141 208593 chr4 1374004 1374004 C A rs144530948 UVSSA Nonsynonymous SNV Q580K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 208594 chr4 184931370 184931370 G A rs747592744 STOX2 Nonsynonymous SNV R460K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 208595 chr12 91340253 91340253 T - rs397849978 LINC00615 0 0 0.024 0 0 0 0 7 0 0 1 0 208596 chr12 91341550 91341550 G C rs60307040 LINC00615 0 0 0.034 0 0 0 0 10 0 0 1 0 0.99 208597 chr4 144621708 144621708 C G rs751195563 FREM3 Nonsynonymous SNV D41H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.088 208598 chr4 73161427 73161427 G C rs542110831 ADAMTS3 Nonsynonymous SNV N889K 0 0.005 0 0 0 2 0 0 0 0 0 0 9.596 208599 chr4 148549569 148549569 C T rs148299197 TMEM184C Synonymous SNV F185F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.75 208600 chr4 187535379 187535379 T G rs551624791 FAT1 Synonymous SNV S3065S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.29 208601 chr12 96379711 96379711 G T rs745620441 HAL Nonsynonymous SNV A186E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 208602 chr19 41284239 41284239 C T RAB4B-EGLN2 0.001 0 0 4 1 0 0.01 0 0 0 0 0 21 208603 chr1 94048471 94048471 C T rs142961077 BCAR3 Nonsynonymous SNV S34N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.44 208604 chr13 111926216 111926216 G T rs766043330 ARHGEF7 Nonsynonymous SNV V142L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 208605 chr2 120197771 120197771 G A rs75716989 SCTR Synonymous SNV P415P 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 6.565 208606 chr13 113536279 113536279 G A ATP11A Synonymous SNV V1159V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.675 208607 chr2 120844750 120844750 G A rs145956090 EPB41L5 Synonymous SNV P269P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 9.768 208608 chr19 42777237 42777237 C T rs886819619 CIC Synonymous SNV P434P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 9.02 208609 chr12 51449740 51449740 A G rs766034103 LETMD1 Nonsynonymous SNV E82G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 208610 chr4 79793896 79793896 T C rs17003476 BMP2K Synonymous SNV T579T 0 0.005 0 0 0 2 0 0 0 0 0 0 4.159 208611 chr13 103528058 103528058 A - BIVM-ERCC5, ERCC5 T1124Pfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 208612 chr4 81123949 81123949 C T rs951714195 PRDM8 Synonymous SNV L445L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.737 208613 chr4 3430406 3430406 A T rs142314294 RGS12 Nonsynonymous SNV K530I 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 25.7 208614 chr19 44351996 44351996 G A rs200352356 ZNF283 Nonsynonymous SNV G276R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 6.957 208615 chr4 3446161 3446161 G A rs140008278 HGFAC Nonsynonymous SNV R241Q 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 9.83 208616 chr4 38879702 38879702 G A rs760084629 FAM114A1 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 208617 chr13 19753524 19753524 G A rs374292605 TUBA3C Synonymous SNV H61H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.739 208618 chr13 20426048 20426048 C T rs375978643 ZMYM5 Synonymous SNV K91K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.052 208619 chr20 18470519 18470519 G A rs62216369 RBBP9 Synonymous SNV A150A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 12.72 208620 chr4 1729789 1729789 C T rs149260591 TACC3 Synonymous SNV A220A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.35 208621 chr2 150294242 150294242 T C LYPD6 Nonsynonymous SNV L7P 0 0.005 0 0 0 2 0 0 0 0 0 0 28 208622 chr4 41607911 41607911 G A LIMCH1 Nonsynonymous SNV V126I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 208623 chr2 152466365 152466365 G A rs755521679 NEB Synonymous SNV N3853N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 11.71 208624 chr13 25459478 25459478 G A rs748214176 CENPJ Nonsynonymous SNV P1138L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.967 208625 chr14 24534842 24534842 G A rs372959129 CARMIL3 Synonymous SNV G1136G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.406 208626 chr19 4538367 4538367 C A rs767041022 LRG1 Nonsynonymous SNV G210V 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 208627 chr12 54688963 54688963 T A NFE2 Nonsynonymous SNV M24L 0.001 0 0 0 1 0 0 0 0 0 0 0 13 208628 chr5 1038151 1038151 C T rs201583610 NKD2 Nonsynonymous SNV P340L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 208629 chr20 3214737 3214737 C G rs149016022 SLC4A11 Nonsynonymous SNV R188P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.4 208630 chr2 170761784 170761784 C T rs188178940 UBR3 Synonymous SNV N542N 0 0.005 0 0 0 2 0 0 0 0 0 0 10.99 208631 chr20 36026148 36026148 G A rs142941466 SRC Synonymous SNV T250T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.162 208632 chr5 118970249 118970249 G T rs200846075 FAM170A Nonsynonymous SNV G222V 0.001 0.01 0 1 1 4 0.003 0 0 0 0 0 23.1 208633 chr12 57921733 57921733 G A rs534271749 MBD6 Nonsynonymous SNV G780E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 208634 chr12 58022888 58022888 G A rs368334961 B4GALNT1 Nonsynonymous SNV R197C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 208635 chr4 74719815 74719815 C A rs747455495 PF4V1 Synonymous SNV I97I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.29 208636 chr19 49225214 49225214 G A RASIP1 Synonymous SNV P863P 0.002 0 0 5 2 0 0.013 0 0 0 0 0 10.48 208637 chr13 76055779 76055779 C T rs766770293 TBC1D4 Nonsynonymous SNV G42E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 208638 chr13 76429454 76429454 G A rs776990229 LMO7 Nonsynonymous SNV A1247T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 208639 chr4 7725490 7725490 C G rs868010937 SORCS2 Nonsynonymous SNV L831V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.9 208640 chr4 46967058 46967058 T C rs45546331 GABRA4 Nonsynonymous SNV T285A 0 0.008 0.003 0 0 3 0 1 0 0 0 0 0.043 208641 chr4 83348691 83348691 A T HNRNPDL Nonsynonymous SNV D267E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 208642 chr5 137622879 137622879 C T rs146162528 CDC25C Synonymous SNV E262E 0 0.008 0.01 0 0 3 0 3 0 0 0 0 16.21 208643 chr4 5053620 5053620 C A rs77843312 STK32B Synonymous SNV P10P 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 17.37 208644 chr14 64989371 64989371 T G ZBTB1 Nonsynonymous SNV S383R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.807 208645 chr14 105055189 105055189 C T C14orf180 Synonymous SNV L170L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.712 208646 chr4 5576447 5576447 T C rs368739188 EVC2 Nonsynonymous SNV M1029V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.062 208647 chr14 65209987 65209987 G A rs199659393 PLEKHG3 Nonsynonymous SNV V1076I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 208648 chr14 65550984 65550984 C T rs148339628 MAX Nonsynonymous SNV V60I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.062 208649 chr20 47700643 47700643 C T rs140701703 CSE1L Synonymous SNV Y465Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 208650 chr14 70346416 70346416 C T rs138862255 SMOC1 Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.45 208651 chr4 88293931 88293931 T C HSD17B11 Nonsynonymous SNV N163D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 208652 chr4 898519 898519 G A rs768962219 GAK Nonsynonymous SNV S65L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 208653 chr14 74413004 74413004 C T rs774632283 FAM161B Nonsynonymous SNV C120Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 208654 chr12 108086628 108086628 G C rs139317682 PWP1 Synonymous SNV T57T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 208655 chr14 78198867 78198867 G A rs148781957 SNW1 Synonymous SNV F284F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 208656 chr9 111696771 111696771 C T rs371689204 ABITRAM Nonsynonymous SNV A2V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 208657 chr14 90756653 90756653 C T rs771864754 NRDE2 Nonsynonymous SNV R714H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 208658 chr20 61638108 61638108 C G BHLHE23 Nonsynonymous SNV G7R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.73 208659 chr12 122977271 122977271 G A ZCCHC8 Nonsynonymous SNV A4V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 208660 chr12 123476405 123476405 G A rs763772793 PITPNM2 Synonymous SNV G815G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 208661 chr5 132197313 132197313 C T rs774616473 GDF9 Nonsynonymous SNV D445N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.8 208662 chr12 124885170 124885170 C T rs201715042 NCOR2 Nonsynonymous SNV V563M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 208663 chr12 129442131 129442131 C T rs141781055 GLT1D1 Synonymous SNV P138P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.897 208664 chr12 131589398 131589398 C T ADGRD1 Nonsynonymous SNV A565V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 208665 chr14 103969355 103969355 G A rs75106537 MARK3 Nonsynonymous SNV A645T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 208666 chr9 12702423 12702423 C T rs758093517 TYRP1 Stop gain R356X 0 0.005 0 0 0 2 0 0 0 0 0 0 36 208667 chr13 20208035 20208035 C A rs777783196 MPHOSPH8 Synonymous SNV G49G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 208668 chr4 2692564 2692564 A G rs759255855 FAM193A Synonymous SNV Q599Q 0.003 0 0 0 3 0 0 0 0 0 0 0 3.295 208669 chr19 5661807 5661807 A G rs374424108 SAFB Nonsynonymous SNV Y556C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.1 208670 chr5 140480838 140480838 G C rs149361690 PCDHB3 Nonsynonymous SNV R202P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 32 208671 chr15 24921083 24921083 C T rs142014262 NPAP1 Synonymous SNV G23G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.3 208672 chr4 3418713 3418713 C T rs777223492 RGS12 Nonsynonymous SNV A186V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 208673 chr2 233704627 233704627 G T rs141356541 GIGYF2 Synonymous SNV S939S 0 0.008 0 0 0 3 0 0 0 0 0 0 11.2 208674 chr14 64637136 64637136 C T rs376008959 SYNE2 Nonsynonymous SNV R5731C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 208675 chr5 140812475 140812475 C T rs757934634 PCDHGA12 Nonsynonymous SNV R717W 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 22.5 208676 chr2 233899077 233899077 C T rs141029510 NEU2 Synonymous SNV Y151Y 0 0.008 0 0 0 3 0 0 0 0 0 0 0.538 208677 chr14 65253297 65253297 T C rs769684663 SPTB Nonsynonymous SNV Q1129R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 208678 chr15 34168130 34168130 T A rs146625663 AVEN Nonsynonymous SNV K171I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 27.6 208679 chr15 34651473 34651473 G T LPCAT4 Nonsynonymous SNV P477Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 208680 chr5 14477021 14477021 A G rs754432330 TRIO Synonymous SNV L2034L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.844 208681 chr14 74874342 74874342 G A rs201977513 SYNDIG1L Nonsynonymous SNV R205W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 208682 chr13 42407656 42407656 C T rs142661823 VWA8 Synonymous SNV A479A 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 11.57 208683 chr14 75265201 75265201 T C rs370679344 YLPM1 Synonymous SNV D1067D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.006 208684 chr14 75361092 75361092 T A DLST Synonymous SNV T250T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 208685 chr21 45107452 45107452 A T rs534629529 RRP1B Nonsynonymous SNV R399S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 4.748 208686 chr5 195192 195192 C A rs200394973 LRRC14B Nonsynonymous SNV F423L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.44 208687 chr14 77275980 77275980 A G rs139100727 ANGEL1 Nonsynonymous SNV F24S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 26 208688 chr2 241827926 241827926 C A rs780262336 MAB21L4 Nonsynonymous SNV R345L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.167 208689 chr13 47351760 47351760 T A rs369240543 ESD 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 208690 chr13 51519612 51519612 C G RNASEH2B Nonsynonymous SNV S187C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 208691 chr5 37108520 37108520 C T rs144081297 CPLANE1 Nonsynonymous SNV G3098R 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.66 208692 chr5 153857407 153857407 C T rs138460675 HAND1 Synonymous SNV P54P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 18.24 208693 chr13 77570094 77570094 A C rs762023630 CLN5 Nonsynonymous SNV M133L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 208694 chr5 156589937 156589937 G A rs115938677 FAM71B Nonsynonymous SNV R447C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 208695 chr22 21165316 21165316 T G PI4KA Nonsynonymous SNV K337T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 208696 chr5 170238988 170238988 G A rs201289659 GABRP Nonsynonymous SNV S350N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 10.51 208697 chr5 1463932 1463932 G C rs144081179 LPCAT1 Nonsynonymous SNV A480G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 208698 chr5 176638492 176638492 G A rs780306768 NSD1 Nonsynonymous SNV R1031Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.69 208699 chr15 63029165 63029165 C T rs376384348 TLN2 Synonymous SNV A1149A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 208700 chr15 64422476 64422476 G A rs771802227 SNX1 Nonsynonymous SNV R259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 208701 chr2 44099233 44099233 G A rs137852987 ABCG8 Stop gain W361X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Pathogenic 38 208702 chr2 46611659 46611659 C T rs753610303 EPAS1 Nonsynonymous SNV R825W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 35 208703 chr5 150704879 150704879 C T rs147978124 SLC36A2 Synonymous SNV K326K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 13.57 208704 chr15 41192713 41192713 A G rs373608134 VPS18 Nonsynonymous SNV Y566C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.3 208705 chr19 9449991 9449991 A G rs144545544 ZNF559 Synonymous SNV A116A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.746 208706 chr5 35910614 35910614 G A rs202156612 CAPSL Stop gain R57X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 208707 chr5 79095380 79095380 C T rs747135873 CMYA5 Nonsynonymous SNV P4051S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 208708 chr9 78784669 78784669 A G rs372679512 PCSK5 Nonsynonymous SNV I557V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.28 208709 chr5 39126204 39126204 C T rs75710164 FYB1 Synonymous SNV T657T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.62 208710 chr5 80547051 80547051 C T rs780505629 CKMT2 Nonsynonymous SNV R34W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 208711 chr15 44053662 44053662 T C rs201421563 PDIA3 Synonymous SNV A135A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.82 208712 chr14 24845757 24845757 A G NFATC4 Nonsynonymous SNV T772A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.143 208713 chr5 82834938 82834938 C T VCAN Nonsynonymous SNV S1052F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 208714 chr5 112176209 112176209 C T rs373440614 APC Nonsynonymous SNV R1622W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.7 208715 chr15 49088213 49088213 T G rs147595936 CEP152 Nonsynonymous SNV N229H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 208716 chr9 94172161 94172161 A G NFIL3 Nonsynonymous SNV S286P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.85 208717 chr15 50526109 50526109 A C SLC27A2 Nonsynonymous SNV N481H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 208718 chr5 118323831 118323835 GCTGT - DTWD2 T4Yfs*53 0.002 0 0 0 2 0 0 0 0 0 0 0 208719 chr5 5464973 5464973 G A rs767612851 ICE1 Synonymous SNV L1842L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.296 208720 chr5 96251395 96251395 T C ERAP2 Synonymous SNV F842F 0 0.005 0 0 0 2 0 0 0 0 0 0 2.086 208721 chr1 11298104 11298104 G A rs377357096 MTOR Synonymous SNV D668D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 208722 chr15 86808018 86808018 G C rs201827530 AGBL1 Nonsynonymous SNV C539S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.487 208723 chr5 60063694 60063694 G A rs200699082 ELOVL7 Stop gain R98X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 208724 chr14 39868847 39868847 A G rs550186542 FBXO33 Nonsynonymous SNV I514T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 208725 chr15 57931704 57931704 G A rs140924688 GCOM1, MYZAP Synonymous SNV V360V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.19 208726 chr14 45599083 45599083 T C rs772124958 FKBP3 Nonsynonymous SNV I78V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 208727 chr5 6633909 6633909 G A rs953588279 SRD5A1 Nonsynonymous SNV E74K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.081 208728 chr6 109312018 109312018 A G rs374188460 SESN1 Synonymous SNV H359H 0 0.005 0 0 0 2 0 0 0 0 0 0 4.887 208729 chrX 115303687 115303687 T G rs782370785 AGTR2 Nonsynonymous SNV Y52D 0 0.005 0 0 0 2 0 0 0 1 0 0 11.24 208730 chr2 95976203 95976203 G A rs35516857 KCNIP3 Nonsynonymous SNV R39H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 208731 chr15 63933720 63933720 T C rs376058656 HERC1 Synonymous SNV A3852A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.001 208732 chr15 64496716 64496716 C T rs774073934 CSNK1G1 Nonsynonymous SNV R308Q 0 0 0.007 0 0 0 0 2 0 0 0 0 35 208733 chr6 111678301 111678301 A G rs200370256 REV3L Nonsynonymous SNV I2367T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 208734 chr14 53066885 53066885 C T rs769297301 GPR137C Synonymous SNV N181N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 208735 chr15 90622918 90622918 G A ZNF710 Nonsynonymous SNV D618N 0.002 0 0 0 2 0 0 0 0 0 0 0 23 208736 chr5 35795876 35795876 T C rs376052806 SPEF2 Synonymous SNV N1603N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.943 208737 chr22 46653058 46653058 C T rs138348302 PKDREJ Synonymous SNV L2054L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 12.03 208738 chr15 70864543 70864543 G A rs117292937 LINC02204 0 0 0.003 0 0 0 0 1 0 0 0 0 2.723 208739 chr14 61442749 61442749 G C rs372011452 TRMT5 Synonymous SNV L324L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 208740 chrX 151092258 151092258 C T rs41302158 MAGEA4 Nonsynonymous SNV S41F 0.002 0.005 0 0 2 2 0 0 1 1 0 0 9.553 208741 chrX 152734678 152734678 C T HAUS7 Synonymous SNV E60E 0.001 0.005 0 2 1 2 0.005 0 0 1 0 1 12.24 208742 chr15 75116787 75116787 G C LMAN1L Nonsynonymous SNV Q473H 0 0 0.01 0 0 0 0 3 0 0 0 0 24.9 208743 chr15 75116788 75116788 A T LMAN1L Nonsynonymous SNV T474S 0 0 0.01 0 0 0 0 3 0 0 0 0 22.9 208744 chr3 111603011 111603011 C T rs147548065 PHLDB2 Synonymous SNV N29N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.788 208745 chr14 64701763 64701763 C T rs367855747 ESR2 Nonsynonymous SNV S353N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 208746 chr14 65008242 65008242 G T rs143577249 HSPA2 Synonymous SNV T225T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.356 208747 chr5 50685542 50685542 A T rs200209474 ISL1 Nonsynonymous SNV T181S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 17.61 208748 chr5 5461976 5461976 T C rs72646682 ICE1 Synonymous SNV N843N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.425 208749 chr15 80465480 80465480 G A rs372980573 FAH Synonymous SNV P277P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.711 208750 chr15 83349398 83349398 T G rs200983489 AP3B2 Nonsynonymous SNV K262T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 14.5 208751 chr5 61651033 61651033 A T KIF2A Nonsynonymous SNV R202S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 208752 chr5 61669611 61669611 G A KIF2A Nonsynonymous SNV G563S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 208753 chr1 154480949 154480949 A G TDRD10 Nonsynonymous SNV I45V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.001 208754 chr15 88679235 88679235 A G rs55748132 NTRK3 Synonymous SNV L268L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.105 208755 chr2 105924384 105924384 G A rs746399074 TGFBRAP1 Synonymous SNV N125N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.177 208756 chr6 148841180 148841180 C T rs148669185 SASH1 Nonsynonymous SNV R215C 0 0.005 0 0 0 2 0 0 0 0 0 0 16.76 208757 chr15 89398659 89398659 C T rs559189679 ACAN Nonsynonymous SNV A948V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.468 208758 chrX 69522167 69522167 C T rs777529831 KIF4A Nonsynonymous SNV R233C 0 0.005 0 0 0 2 0 0 0 1 0 0 24.7 208759 chr5 96364215 96364215 A G rs147001588 LNPEP Nonsynonymous SNV K1019R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.028 208760 chr15 89836207 89836207 T C rs911033971 FANCI Nonsynonymous SNV I735T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.832 208761 chr16 2313166 2313166 G C RNPS1 Nonsynonymous SNV S94C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 208762 chr16 2983450 2983450 G C rs958025311 FLYWCH1 Nonsynonymous SNV L372F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.112 208763 chr6 107956457 107956457 C T rs199587338 SOBP Synonymous SNV D803D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 11.84 208764 chr6 10874339 10874339 A G rs147308895 GCM2 Synonymous SNV S470S 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 1.24 208765 chr6 152786578 152786578 C T SYNE1 Nonsynonymous SNV V590M 0 0.005 0 0 0 2 0 0 0 0 0 0 32 208766 chr6 110714040 110714040 C T rs150069463 DDO Nonsynonymous SNV A209T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 17.08 208767 chr6 110778129 110778129 G A rs768470747 SLC22A16 Nonsynonymous SNV H49Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 208768 chr6 15487699 15487699 T C JARID2 Nonsynonymous SNV S106P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 208769 chr6 15517406 15517406 C T rs147238761 JARID2 Synonymous SNV N983N 0 0.005 0 0 0 2 0 0 0 0 0 0 15.64 208770 chr16 3613135 3613135 G A rs762033919 NLRC3 Synonymous SNV R601R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 208771 chr1 983478 983478 C T rs558952571 AGRN Nonsynonymous SNV P1280S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.442 208772 chr14 94084690 94084690 A G rs765525824 UNC79 Synonymous SNV E1459E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.718 208773 chr1 1022534 1022534 C A rs183314105 C1orf159 Nonsynonymous SNV G99W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 208774 chr14 94394911 94394911 G A rs145475417 FAM181A Nonsynonymous SNV G94S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 208775 chr14 94395214 94395214 G C rs766014903 FAM181A Nonsynonymous SNV E195Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 208776 chr16 11367186 11367186 G A rs376082577 PRM3 Synonymous SNV N89N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.531 208777 chr2 128389254 128389254 G A rs373904437 MYO7B Synonymous SNV L1699L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.327 208778 chr1 159505648 159505648 G A rs199596257 OR10J5 Synonymous SNV C50C 0 0 0 4 0 0 0.01 0 0 0 0 0 0.096 208779 chr16 1390941 1390943 GAG - BAIAP3 E144del 0 0 0.003 0 0 0 0 1 0 0 0 0 208780 chr6 123127422 123127422 G A SMPDL3A Nonsynonymous SNV V191M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 208781 chr16 15737177 15737177 G A rs376603273 MIR484 0 0 0.017 0 0 0 0 5 0 0 0 0 Uncertain significance 19.01 208782 chr14 103574830 103574830 T C rs762591338 EXOC3L4 Nonsynonymous SNV L651P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 208783 chr16 10788537 10788537 G A rs370793376 TEKT5 Nonsynonymous SNV P65L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.368 208784 chr6 10586603 10586603 C T rs144473761 GCNT2 Synonymous SNV H127H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.02 208785 chr14 104208352 104208352 C A rs778426241 PPP1R13B Nonsynonymous SNV A533S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.246 208786 chr6 131919604 131919604 T C rs745726346 MED23 Synonymous SNV V810V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.837 208787 chr16 11862887 11862887 A T rs758540705 ZC3H7A Synonymous SNV L391L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.76 208788 chr14 104624148 104624148 C G rs540770480 KIF26A Synonymous SNV P264P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 208789 chr16 15729918 15729918 C T rs376311813 MARF1 Synonymous SNV R142R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.49 208790 chr1 6741027 6741027 T A rs138392773 DNAJC11 Nonsynonymous SNV D48V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 29 208791 chr6 17788031 17788031 T A rs1050210080 KIF13A Nonsynonymous SNV I1100L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 208792 chr16 22361132 22361132 G A rs770985518 CDR2 Synonymous SNV N77N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 208793 chr6 22570137 22570137 C T rs754087372 HDGFL1 Synonymous SNV A111A 0 0.005 0 0 0 2 0 0 0 0 0 0 15.05 208794 chr6 144878314 144878314 C G UTRN Nonsynonymous SNV P2386A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.03 208795 chr16 20856540 20856540 C A rs138880947 REXO5 Nonsynonymous SNV P670T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 208796 chr5 180166864 180166864 A T OR2Y1 Nonsynonymous SNV H65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.195 208797 chr16 27301633 27301633 G A rs537037576 NSMCE1-DT 0 0 0.007 0 0 0 0 2 0 0 0 0 0.69 208798 chr15 33381139 33381139 T C rs181008299 FMN1 Nonsynonymous SNV N635S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.001 208799 chr16 23700676 23700676 T A rs45569335 PLK1 Nonsynonymous SNV L463H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 208800 chr16 30006741 30006741 A C HIRIP3 Nonsynonymous SNV S37A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 208801 chr16 24804864 24804864 T A rs752312777 TNRC6A Synonymous SNV G1082G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.956 208802 chr16 30785356 30785356 A G rs778864656 RNF40 Nonsynonymous SNV Y876C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 208803 chr15 40583835 40583835 G A PLCB2 Synonymous SNV A869A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.63 208804 chr1 17552573 17552573 A G rs150923523 PADI1 Nonsynonymous SNV D191G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Likely benign 19.26 208805 chr15 40917290 40917290 A G rs765844204 KNL1 Nonsynonymous SNV I1610V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 208806 chr6 157100590 157100590 C G ARID1B Synonymous SNV T509T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.62 208807 chr16 30680840 30680840 G A rs756555793 FBRS Synonymous SNV P939P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.359 208808 chr16 3707301 3707301 C T rs373492852 DNASE1 Synonymous SNV S221S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 208809 chr16 3807376 3807376 T A rs200346970 CREBBP Nonsynonymous SNV Y1166F 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 22.6 208810 chr6 158923692 158923692 C T rs369052981 TULP4 Synonymous SNV A999A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.564 208811 chr16 4016795 4016795 C T ADCY9 Nonsynonymous SNV D1015N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.72 208812 chr6 35480467 35480467 A C TULP1 Nonsynonymous SNV S16R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.787 208813 chr6 13638135 13638135 A G rs752552782 RANBP9 Synonymous SNV Y526Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.295 208814 chr6 37617914 37617914 C T rs746200439 MDGA1 Nonsynonymous SNV R527H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 208815 chr16 4790471 4790471 C T rs751623429 C16orf71 Synonymous SNV A198A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 208816 chr6 1611642 1611642 C A rs754743917 FOXC1 Nonsynonymous SNV P321Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 26.2 208817 chr5 55247390 55247390 G C IL6ST Nonsynonymous SNV S249C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 208818 chr16 56782276 56782276 G A rs144673411 NUP93 Synonymous SNV A39A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.56 208819 chr1 186275889 186275889 T G rs140318596 PRG4 Synonymous SNV T212T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.278 208820 chr6 42658775 42658775 G A rs755635525 UBR2 Nonsynonymous SNV G1711E 0 0.005 0 0 0 2 0 0 0 0 0 0 33 208821 chr6 152639360 152639360 T G rs754463042 SYNE1 Nonsynonymous SNV L5405F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 208822 chr3 186760924 186760924 C T rs527877833 ST6GAL1 Nonsynonymous SNV R145W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 208823 chr1 19447881 19447881 C T rs779342826 UBR4 Nonsynonymous SNV V3315M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 208824 chr1 19564586 19564586 G A rs201404380 EMC1 Synonymous SNV L357L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 8.565 208825 chr16 57945668 57945668 G A rs77399988 CNGB1 Synonymous SNV G821G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 11.77 208826 chr16 58557383 58557383 T C CNOT1 Nonsynonymous SNV I2265V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 208827 chr6 44269159 44269159 C T rs911331424 AARS2 Nonsynonymous SNV G881R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.73 208828 chr2 186661967 186661967 T A FSIP2 Synonymous SNV S3368S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.166 208829 chr6 25606496 25606496 G A rs368226428 CARMIL1 Nonsynonymous SNV R1275Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 208830 chr6 157713975 157713975 G T rs150133490 TMEM242 Synonymous SNV S128S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.04 208831 chr3 192988391 192988391 A G rs376118882 PLAAT1 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.8 208832 chr16 68390653 68390653 C G PRMT7 Nonsynonymous SNV P571A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 208833 chr6 26240943 26240943 C G H4C6 Nonsynonymous SNV T97S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 208834 chr6 159208147 159208147 T C EZR Nonsynonymous SNV D62G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 208835 chr3 194408516 194408516 C T rs367913856 FAM43A Nonsynonymous SNV R321C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 208836 chr1 201009430 201009430 G T rs200434921 CACNA1S Nonsynonymous SNV P1767T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 3.341 208837 chr16 72056320 72056320 C T rs61757214 DHODH Synonymous SNV I255I 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 16.1 208838 chr16 72827358 72827358 A G rs139107568 ZFHX3 Synonymous SNV L2161L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 208839 chr15 66601100 66601100 C T rs764798110 DIS3L Nonsynonymous SNV P33L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 208840 chr6 1611205 1611205 G A FOXC1 Synonymous SNV K175K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.024 208841 chr16 75512734 75512734 C A rs140699573 CHST6 Nonsynonymous SNV Q331H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 208842 chr6 162622239 162622239 G C rs55654276 PRKN Nonsynonymous SNV P153R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign/Likely benign 23.6 208843 chr1 31896542 31896542 G A rs782139488 SERINC2 Synonymous SNV A18A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.82 208844 chr15 72104297 72104297 G A NR2E3 Nonsynonymous SNV V118M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 12.71 208845 chr15 73995262 73995262 G A rs555581349 CD276 Nonsynonymous SNV V44M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 208846 chr15 74043394 74043394 T A rs745468715 INSYN1 Synonymous SNV R26R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.641 208847 chr1 20637100 20637100 C T rs544882525 VWA5B1 Synonymous SNV P2P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.02 208848 chr16 84225144 84225144 G T ADAD2 Nonsynonymous SNV G103V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.55 208849 chr1 40928902 40928902 G C rs151207450 ZFP69B Nonsynonymous SNV V416L 0 0.008 0 5 0 3 0.013 0 0 1 0 0 23 208850 chr2 210858113 210858113 C T rs745339116 UNC80 Synonymous SNV T3067T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 15.18 208851 chr1 21030956 21030956 G T rs56750936 KIF17 Nonsynonymous SNV S369R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.788 208852 chr2 218954775 218954775 - GACCAA rs915255237 RUFY4 X572delinsX 0 0 0 1 0 0 0.003 0 0 0 0 0 208853 chr16 88808765 88808765 C T PIEZO1 Nonsynonymous SNV A76T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.036 208854 chr6 28227546 28227546 G A rs367821704 NKAPL Nonsynonymous SNV A133T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.49 208855 chr6 90500051 90500051 A G MDN1 Nonsynonymous SNV C309R 0 0.005 0 0 0 2 0 0 0 0 0 0 17.71 208856 chr6 10874568 10874568 T G rs142287570 GCM2 Nonsynonymous SNV Y394S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.9 208857 chr1 220364616 220364616 G A rs372594666 RAB3GAP2 Synonymous SNV D427D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 7.423 208858 chr16 89016663 89016663 A G rs58742532 LOC100129697 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.001 208859 chr16 89016677 89016677 G C rs71395347 LOC100129697 Nonsynonymous SNV V51L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.278 208860 chr2 219920308 219920308 G A rs140093604 IHH Nonsynonymous SNV P286L 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 23.2 208861 chr1 52399009 52399009 C T rs139634898 RAB3B Synonymous SNV Q151Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.402 208862 chr2 220100233 220100233 G A rs760459753 ANKZF1 Nonsynonymous SNV D367N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 208863 chr16 89784329 89784329 T - VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 208864 chr16 89784331 89784395 GCTCCCCCGACCTCTGTGCTCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGT - VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 208865 chr1 53676401 53676401 T G rs2229291 CPT2 Nonsynonymous SNV F352C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign/Likely benign 24.4 208866 chr16 90102917 90102917 G C GAS8 Nonsynonymous SNV E35Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 208867 chr16 90030587 90030587 C T DEF8 Nonsynonymous SNV R278W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 208868 chr3 4776935 4776935 A G rs200927261 ITPR1 Nonsynonymous SNV N1751S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 19.98 208869 chr15 90212804 90212804 G A PLIN1 Nonsynonymous SNV T233I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 208870 chr17 1508116 1508116 T C rs991541492 SLC43A2 Nonsynonymous SNV Y3C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.745 208871 chr6 123319106 123319106 A G CLVS2 Nonsynonymous SNV K62E 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 208872 chr17 1552973 1552973 C T rs756273258 RILP Synonymous SNV L42L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 208873 chr6 63990545 63990545 A G rs201983182 LGSN Nonsynonymous SNV I304T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.156 208874 chr15 91795076 91795076 C T rs146271108 SV2B Nonsynonymous SNV A9V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.97 208875 chr1 228407056 228407056 G A rs59850477 OBSCN Synonymous SNV P895P 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 9.236 208876 chr6 132909888 132909888 C T rs142497144 TAAR5 Nonsynonymous SNV R313Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.5 208877 chr1 228461030 228461030 C T rs116650932 OBSCN Nonsynonymous SNV A2015V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.362 208878 chr17 17174281 17174281 G A rs147175757 COPS3 Nonsynonymous SNV T9M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 208879 chr6 135778698 135778698 G T rs754784786 AHI1 Nonsynonymous SNV S362Y 0.003 0 0 0 4 0 0 0 0 0 0 0 29.2 208880 chr1 74649262 74649262 T C rs148456904 LRRIQ3 Nonsynonymous SNV N36S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.061 208881 chr1 79093699 79093699 T C rs41292964 IFI44L Synonymous SNV H33H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.621 208882 chr17 4793911 4793911 - AACAGCAGCAGCAGCTTCAGA MINK1 Q494_Q495insLQKQQQQ 0.003 0.005 0 0 4 2 0 0 0 0 0 0 208883 chr16 1129715 1129715 G A rs777970503 SSTR5 Nonsynonymous SNV A283T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 208884 chr16 1245979 1245979 C T rs761902601 CACNA1H Nonsynonymous SNV T200I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 208885 chr16 1258142 1258142 A G CACNA1H Nonsynonymous SNV D1095G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 208886 chr17 5392602 5392602 A G rs150896422 MIS12 Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 208887 chr17 26370100 26370100 C G rs769633651 NLK Nonsynonymous SNV H67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.949 208888 chr7 106876962 106876962 C A rs745531523 COG5 Nonsynonymous SNV R685L 0 0.005 0 0 0 2 0 0 0 0 0 0 34 208889 chr17 27014462 27014462 A T rs147071039 SUPT6H Synonymous SNV G993G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.31 208890 chr17 27076409 27076409 C T rs147636334 TRAF4 Synonymous SNV H409H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.709 208891 chr16 1552743 1552743 C T rs774683465 TELO2 Nonsynonymous SNV T584M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 208892 chr7 116339248 116339248 T C rs201315884 MET Nonsynonymous SNV V37A 0.001 0.008 0.007 0 1 3 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 8.547 208893 chr7 117060321 117060321 T C ASZ1 Synonymous SNV Q112Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.08 208894 chr6 52881001 52881001 A G rs765400221 CILK1 Synonymous SNV R237R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 208895 chr16 2124371 2124371 A G rs753466189 TSC2 Synonymous SNV P642P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.171 208896 chr17 33881770 33881771 AA - rs752554003 LOC107985033 0 0 0.007 0 0 0 0 2 0 0 1 0 208897 chr6 56765276 56765276 G A rs373798180 DST Synonymous SNV S120S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.46 208898 chr7 128315912 128315912 A C rs765857534 FAM71F2 Synonymous SNV R122R 0 0.005 0 0 0 2 0 0 0 0 0 0 13.35 208899 chr16 3440034 3440034 T A rs147765270 ZSCAN32 Nonsynonymous SNV R31W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.89 208900 chr17 8224227 8224227 A G rs140557878 ARHGEF15 Synonymous SNV E814E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 6.838 208901 chr17 36483889 36483889 G C rs79954845 GPR179 Nonsynonymous SNV L1855V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Likely benign 0.042 208902 chr7 129662348 129662348 G A rs562119592 ZC3HC1 Synonymous SNV S346S 0 0.005 0 0 0 2 0 0 0 0 0 0 15.62 208903 chr17 36715926 36715926 A C rs111668617 SRCIN1 Synonymous SNV G640G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 6.145 208904 chr6 7581119 7581119 C G rs201785897 DSP Nonsynonymous SNV L1566V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 5.259 208905 chr17 38252123 38252123 C T rs761818986 NR1D1 Synonymous SNV T274T 0 0 0.007 0 0 0 0 2 0 0 0 0 17.29 208906 chr2 28802522 28802522 T C rs775014811 PLB1 Nonsynonymous SNV I516T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 27.4 208907 chr6 84311059 84311059 T C rs1014063404 SNAP91 Nonsynonymous SNV T300A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.328 208908 chr16 9858280 9858280 T G rs753376881 GRIN2A Nonsynonymous SNV N1041H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 208909 chr17 39502754 39502754 C T rs376941504 KRT33A Nonsynonymous SNV R348Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 208910 chr16 11444637 11444637 A G rs140592082 RMI2 Nonsynonymous SNV N145S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 208911 chr17 18141019 18141019 C T rs149775273 LLGL1 Synonymous SNV L612L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 208912 chr16 14024627 14024627 G C ERCC4 Nonsynonymous SNV V285L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 208913 chr7 100679977 100679977 G A rs149337515 MUC17 Synonymous SNV P1760P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 5.342 208914 chr4 126373018 126373018 C T rs111423173 FAT4 Nonsynonymous SNV T3618M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 24.8 208915 chr7 100491441 100491441 C A rs141299237 ACHE Nonsynonymous SNV R138L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 208916 chr7 148544322 148544322 G A rs988314769 EZH2 Synonymous SNV Y23Y 0 0.005 0 0 0 2 0 0 0 0 0 0 6.604 208917 chr16 20328643 20328643 C T rs142145100 GP2 Synonymous SNV S289S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 208918 chr1 150551552 150551552 T C rs779873561 MCL1 Nonsynonymous SNV N152S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.001 208919 chr1 29547379 29547379 - ATC MECR L83_I84insM 0.002 0 0 4 2 0 0.01 0 0 0 0 0 208920 chr16 22291612 22291612 C T rs140310220 EEF2K Synonymous SNV D661D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 208921 chr1 151317597 151317597 G T RFX5 Nonsynonymous SNV T73N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 19.83 208922 chr1 32201439 32201439 C T rs142973128 ADGRB2 Nonsynonymous SNV V1086I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 208923 chr1 32209840 32209840 C T rs866946009 ADGRB2 Synonymous SNV G347G 0 0 0 2 0 0 0.005 0 0 0 0 0 13.41 208924 chr17 26115853 26115853 A G rs142350864 NOS2 Synonymous SNV L100L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.364 208925 chr17 4442817 4442817 C T rs117506528 MYBBP1A Nonsynonymous SNV A1294T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.178 208926 chr16 27761541 27761541 G A rs369391209 KIAA0556 Nonsynonymous SNV R1087Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 208927 chr1 154207128 154207128 C T rs750639357 UBAP2L Nonsynonymous SNV T114M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.4 208928 chr17 46628138 46628138 C T rs147425326 HOXB3 Nonsynonymous SNV S285N 0 0 0.007 0 0 0 0 2 0 0 0 0 12.27 208929 chr16 29917172 29917172 G A ASPHD1 Nonsynonymous SNV G376E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 208930 chr1 154316887 154316887 C A rs150649613 ATP8B2 Synonymous SNV I703I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22 208931 chr16 30910830 30910830 C T rs8059269 CTF1 Synonymous SNV Y39Y 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 11.17 208932 chr16 30978324 30978324 C A rs11866157 SETD1A Synonymous SNV I875I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 208933 chr7 1590477 1590477 C A TMEM184A Nonsynonymous SNV D121Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 208934 chr7 129929559 129929559 T G CPA2 Nonsynonymous SNV M411R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 208935 chr1 39908155 39908155 G A rs985459635 MACF1 Synonymous SNV L4281L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.432 208936 chr17 35913843 35913843 G A rs754091344 SYNRG Nonsynonymous SNV T500I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22 208937 chr16 48149484 48149484 T A rs756549295 ABCC12 Nonsynonymous SNV I611F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 208938 chr1 40313741 40313741 C T rs766934787 TRIT1 Synonymous SNV V162V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.3 208939 chr17 36977303 36977303 C T rs202227507 CWC25 Synonymous SNV P14P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 208940 chr1 40704987 40704987 A G RLF Nonsynonymous SNV H1538R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.49 208941 chr16 53514597 53514597 G A rs765680964 RBL2 Synonymous SNV E976E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.162 208942 chr16 55732392 55732392 C T rs138435822 SLC6A2 Synonymous SNV Y362Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.252 208943 chr17 5461707 5461707 A G rs759218321 NLRP1 Nonsynonymous SNV I770T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 208944 chr7 27134095 27134095 C - rs757356525 HOXA1 S325Lfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 208945 chr17 56247087 56247087 A G rs767306975 OR4D2 Nonsynonymous SNV Q24R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.953 208946 chr17 56350900 56350900 C T rs771572116 MPO Nonsynonymous SNV R499H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 208947 chr7 141464261 141464261 C T rs765017863 TAS2R3 Synonymous SNV T101T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.38 208948 chr17 39084513 39084513 C T rs144458191 KRT23 Nonsynonymous SNV D163N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 30 208949 chr7 141871110 141871110 T C rs188248322 MGAM2 Nonsynonymous SNV M1074T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.91 208950 chr17 56634409 56634409 C T rs771425209 TEX14 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 208951 chr7 121652840 121652840 C T rs762766072 PTPRZ1 Nonsynonymous SNV S1247L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.466 208952 chr1 47745998 47745998 G A rs201448287 STIL Nonsynonymous SNV S711L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 29 208953 chr7 123672666 123672666 C T TMEM229A Nonsynonymous SNV G131E 0 0.003 0 0 0 1 0 0 0 0 0 0 26 208954 chr1 52854146 52854146 A C rs747550939 ORC1 Nonsynonymous SNV L451V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 208955 chr17 63530163 63530163 C T rs145007501 AXIN2 Nonsynonymous SNV A693T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 18.45 208956 chr16 67380238 67380245 TACAACCG - LRRC36 Q94Tfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 208957 chr16 67380250 67380250 C A LRRC36 Nonsynonymous SNV P97H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 208958 chr17 6364711 6364711 C T rs144737056 PITPNM3 Synonymous SNV L788L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.27 208959 chr16 67970621 67970621 C G PSMB10 Nonsynonymous SNV G11A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 208960 chr1 161954632 161954632 G A OLFML2B Nonsynonymous SNV T539I 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 26.9 208961 chr4 3251000 3251000 C A MSANTD1 Synonymous SNV P17P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.652 208962 chr1 53974884 53974884 G A rs140697112 GLIS1 Synonymous SNV A538A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.087 208963 chr17 6594169 6594169 C T rs146047560 SLC13A5 Nonsynonymous SNV V413I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.158 208964 chr17 39674601 39674601 A G rs200448494 KRT15 Nonsynonymous SNV I160T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 208965 chr17 6905028 6905028 A G rs774866326 ALOX12 Synonymous SNV Q353Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.216 208966 chr17 39913682 39913682 C T rs188888662 JUP Synonymous SNV P677P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.9 208967 chr17 39967128 39967128 G A rs149271084 P3H4 Synonymous SNV Y258Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.391 208968 chr1 55622654 55622654 C T rs544725731 USP24 Synonymous SNV S471S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.37 208969 chr17 71384130 71384130 C T SDK2 Synonymous SNV V1413V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 208970 chr16 72984419 72984419 C T rs767101010 ZFHX3 Synonymous SNV L141L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 208971 chr16 74729655 74729655 T C rs33972728 MLKL Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 21.2 208972 chr16 75646151 75646151 G A rs749148180 ADAT1 Synonymous SNV L258L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.702 208973 chr6 97063499 97063499 A G FHL5 Nonsynonymous SNV K236E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 208974 chr1 179533914 179533914 C T rs200913299 NPHS2 Nonsynonymous SNV G97S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.461 208975 chr17 45918041 45918041 G T SCRN2 Nonsynonymous SNV L57I 0.001 0 0 0 1 0 0 0 0 0 0 0 26 208976 chr16 83065664 83065664 G C rs6565105 CDH13 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 208977 chr16 83994206 83994206 C A rs371983436 OSGIN1 Synonymous SNV G79G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 208978 chr1 184764893 184764893 C T rs780996726 NIBAN1 Nonsynonymous SNV A669T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.887 208979 chr1 186014950 186014950 G A rs747509922 HMCN1 Synonymous SNV L2145L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.39 208980 chr17 48917384 48917384 G A WFIKKN2 Synonymous SNV K152K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.705 208981 chr17 76446421 76446421 C T rs778024178 DNAH17 Nonsynonymous SNV R3652H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 208982 chr4 68384009 68384009 G A CENPC Nonsynonymous SNV S232L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.6 208983 chr7 34125703 34125703 C T rs138648093 BMPER Nonsynonymous SNV R582W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 208984 chr16 86601132 86601132 C T rs369622966 FOXC2 Nonsynonymous SNV P64L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 208985 chr16 88496531 88496531 C G rs139653501 ZNF469 Nonsynonymous SNV L885V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.751 208986 chr17 77924365 77924365 C A rs367699774 TBC1D16 Nonsynonymous SNV D7Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 208987 chr17 56585634 56585634 A G rs199766264 MTMR4 Synonymous SNV L185L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 208988 chr7 88964957 88964957 G T rs138375583 ZNF804B Nonsynonymous SNV R887S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.482 208989 chr7 90419897 90419897 G A CDK14 Synonymous SNV G29G 0 0.005 0 0 0 2 0 0 0 0 0 0 11.09 208990 chr16 88807930 88807930 G A rs761486802 PIEZO1 Nonsynonymous SNV R141C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 208991 chr7 91630434 91630434 C T rs748951815 AKAP9 Synonymous SNV V401V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Likely benign 9.936 208992 chr17 79220445 79220445 C T rs200237370 SLC38A10 Synonymous SNV A757A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 208993 chr3 133474245 133474245 G A TF Nonsynonymous SNV A54T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 208994 chr17 62232230 62232230 C G TEX2 Nonsynonymous SNV D968H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 208995 chr16 89348568 89348568 T C rs769926682 ANKRD11 Nonsynonymous SNV K1461R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.017 208996 chr3 13612296 13612296 C T rs72624447 FBLN2 Synonymous SNV A147A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.732 208997 chr17 7978925 7978925 G A rs397514532 ALOX12B Nonsynonymous SNV R548W 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 29 208998 chr1 94487490 94487490 A G rs1762111 ABCA4 Nonsynonymous SNV I1562T 0.003 0 0.003 4 4 0 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 208999 chr16 89869684 89869684 G C rs200988394 FANCA Nonsynonymous SNV P227A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.98 209000 chr4 81504254 81504254 A T rs146316801 CFAP299 Nonsynonymous SNV T84S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.117 209001 chr7 157985121 157985121 G A rs769707155 PTPRN2 Synonymous SNV N111N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.006 209002 chr17 71238436 71238436 G A rs764164900 C17orf80 Nonsynonymous SNV G523R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 209003 chr17 1538386 1538386 G A rs144425748 SCARF1 Nonsynonymous SNV A720V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.31 209004 chr17 8701183 8701183 G A rs750408403 MFSD6L Nonsynonymous SNV P419L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.267 209005 chr8 10467278 10467278 C T rs371898327 RP1L1 Nonsynonymous SNV A1444T 0 0.005 0 0 0 2 0 0 0 0 0 0 11.15 209006 chr4 86950379 86950379 C A rs200198724 MAPK10 Nonsynonymous SNV G408V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 209007 chr8 110396302 110396302 A G PKHD1L1 Nonsynonymous SNV K141E 0 0.005 0 0 0 2 0 0 0 0 0 0 10.66 209008 chr17 73518219 73518219 C T rs200540627 TSEN54 Nonsynonymous SNV R353W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29 209009 chr7 25266274 25266274 T G rs144694231 NPVF Nonsynonymous SNV E170D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 209010 chr17 73566554 73566554 G A rs201137001 LLGL2 Nonsynonymous SNV R667Q 0.003 0 0 0 4 0 0 0 0 0 0 0 17.36 209011 chr3 154018428 154018428 C T rs145575921 DHX36 Synonymous SNV L472L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.33 209012 chr8 113277757 113277757 C A CSMD3 Nonsynonymous SNV V2991F 0 0.005 0 0 0 2 0 0 0 0 0 0 24.7 209013 chr17 3627486 3627486 G C HASPIN Nonsynonymous SNV R86P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 209014 chr8 119964033 119964033 C T rs762213334 TNFRSF11B Nonsynonymous SNV V10M 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 209015 chr17 4448405 4448407 CTC - rs746890479 MYBBP1A E742del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 209016 chr17 74011068 74011068 C T rs746329509 EVPL Synonymous SNV L739L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 209017 chr20 23472415 23472415 C T rs34846674 CST8 Synonymous SNV P37P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 209018 chr17 74475918 74475918 A G rs759266767 RHBDF2 Synonymous SNV L57L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.086 209019 chr7 130418384 130418384 T C KLF14 Synonymous SNV A159A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.712 209020 chr17 5425039 5425039 C T rs758345242 NLRP1 Synonymous SNV K1166K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 209021 chr7 81631007 81631007 T C rs73705435 CACNA2D1 Nonsynonymous SNV I539V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.69 209022 chr18 44159611 44159611 G C rs1006329495 LOXHD1 Nonsynonymous SNV D597E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.74 209023 chr3 184800922 184800922 T C rs142754403 C3orf70 Nonsynonymous SNV E209G 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 16.38 209024 chr7 44924906 44924906 - CCG PURB G15_P16insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 209025 chr7 45122443 45122443 A G rs766034449 NACAD Synonymous SNV P1112P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.153 209026 chr20 31756987 31756987 C T rs35100034 BPIFA2 Synonymous SNV G12G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.92 209027 chr17 7917941 7917941 G A rs201388569 GUCY2D Nonsynonymous SNV R812Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 209028 chr7 92732216 92732216 T C rs34256481 SAMD9 Synonymous SNV E1065E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.02 209029 chr1 230895365 230895365 T A rs149818978 CAPN9 Nonsynonymous SNV F131I 0 0 0 1 0 0 0.003 0 0 0 0 0 33 209030 chr8 144620290 144620290 G A rs143952047 ZC3H3 Nonsynonymous SNV S416L 0 0.005 0 0 0 2 0 0 0 0 0 0 19.74 209031 chr7 96639199 96639199 C T rs185805944 DLX6 Nonsynonymous SNV S241L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 209032 chr1 232943554 232943554 A G rs369012245 MAP10 Nonsynonymous SNV S929G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.065 209033 chr20 35507538 35507538 G A rs141678136 TLDC2 Nonsynonymous SNV R95Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 209034 chr17 11572808 11572808 A G rs139596704 DNAH9 Nonsynonymous SNV Y1017C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.5 209035 chr3 23997532 23997532 T C rs373227366 NR1D2 Synonymous SNV F21F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.307 209036 chr18 77170505 77170505 C T rs143045693 NFATC1 Nonsynonymous SNV P77L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 209037 chr7 70800702 70800702 G A rs146563573 GALNT17 Synonymous SNV P135P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.48 209038 chr20 44277921 44277921 C G rs769530217 WFDC11 Nonsynonymous SNV C73S 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 209039 chr3 28294536 28294536 G A rs556235684 CMC1 Nonsynonymous SNV V26I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.914 209040 chr17 21092127 21092127 C A rs749759123 DHRS7B Nonsynonymous SNV H226Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 209041 chr7 75189143 75189143 C T HIP1 Nonsynonymous SNV R423Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 209042 chr17 21102152 21102152 C A rs201532578 TMEM11 Nonsynonymous SNV V22L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.15 209043 chr18 9570378 9570378 C T rs61757748 PPP4R1 Synonymous SNV Q450Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 209044 chr5 141059855 141059855 C T rs139737134 ARAP3 Nonsynonymous SNV E67K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.37 209045 chr17 29631839 29631839 G A rs142482926 EVI2B Synonymous SNV S263S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.048 209046 chr2 1457485 1457485 G A rs150812908 TPO Nonsynonymous SNV A168T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 27.4 209047 chr19 13418948 13418948 T C rs769887736 CACNA1A Synonymous SNV Q634Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.18 209048 chr2 1642646 1642646 T C PXDN Nonsynonymous SNV Q1393R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.3 209049 chr2 3518633 3518633 G C rs538097566 ADI1 Nonsynonymous SNV S16R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.489 209050 chr8 10467169 10467169 G A rs763913719 RP1L1 Nonsynonymous SNV P1480L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.326 209051 chr17 37876073 37876073 C T rs141678288 ERBB2 Synonymous SNV A644A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 209052 chr8 144875168 144875168 G A rs202137464 SCRIB Nonsynonymous SNV P1332L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.84 209053 chr8 39581279 39581279 C T rs142610985 ADAM18 Nonsynonymous SNV T653I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 209054 chr8 144990511 144990511 G A rs782367675 PLEC Nonsynonymous SNV S4479L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24 209055 chr8 121243738 121243738 G A rs114262403 COL14A1 Nonsynonymous SNV G744S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 22.1 209056 chr8 144999646 144999646 T G rs782034460 PLEC Nonsynonymous SNV E1470A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 18.93 209057 chr19 17756898 17756898 C T rs374672664 UNC13A Synonymous SNV Q689Q 0.003 0 0.01 0 4 0 0 3 0 0 0 0 Likely benign 14.08 209058 chr8 145234380 145234380 C T rs769970119 MROH1 Nonsynonymous SNV A64V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.474 209059 chr8 145583958 145583958 A G rs372057075 SLC52A2 Nonsynonymous SNV Y269C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.057 209060 chr19 18177481 18177481 C G IL12RB1 Nonsynonymous SNV V452L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 209061 chr8 145649357 145649357 G A rs764046750 VPS28 Synonymous SNV P205P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.08 209062 chr19 19120937 19120937 G A rs145164796 SUGP2 Nonsynonymous SNV R689W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 209063 chr18 72179721 72179721 C T rs201331505 CNDP2 Synonymous SNV Y148Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 209064 chr19 1953965 1953965 G A CSNK1G2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.422 209065 chr19 20308709 20308709 G A rs559740043 ZNF486 Nonsynonymous SNV R397K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.865 209066 chr2 33824259 33824259 G A rs752243570 FAM98A Synonymous SNV I10I 0 0 0 2 0 0 0.005 0 0 0 0 0 18.6 209067 chr2 37586860 37586860 G A rs147428194 QPCT Synonymous SNV L135L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.89 209068 chr19 2210770 2210770 G A rs761926553 DOT1L Nonsynonymous SNV E423K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 209069 chr17 43013610 43013610 C T rs201705917 KIF18B Nonsynonymous SNV E35K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 209070 chr19 425131 425131 C T rs139279875 SHC2 Synonymous SNV P425P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.5 209071 chr3 64547281 64547281 G A rs374414296 ADAMTS9 Synonymous SNV Y1529Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.488 209072 chr19 694959 694959 C T rs759462336 PRSS57 Nonsynonymous SNV G30R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 209073 chr2 47606141 47606141 A C EPCAM Nonsynonymous SNV K202T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 209074 chr17 48072100 48072100 T C rs772972332 DLX3 Nonsynonymous SNV Y88C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 209075 chr17 48503670 48503670 G A rs764164943 ACSF2 Synonymous SNV G16G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.198 209076 chr19 3527013 3527013 C T rs544217939 FZR1 Synonymous SNV D141D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.534 209077 chr2 61413065 61413069 ATTAT - rs564383946 AHSA2P 0 0 0 1 0 0 0.003 0 0 0 0 0 209078 chr2 61415468 61415468 A T rs368138866 USP34 Synonymous SNV S3470S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.027 209079 chr21 43413365 43413365 C T ZBTB21 Synonymous SNV L280L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.77 209080 chr8 144942252 144942252 C T rs377176052 EPPK1 Nonsynonymous SNV D1724N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 209081 chr19 1275767 1275769 CTT - rs761097595 FAM174C F74del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 209082 chr19 1469633 1469633 C G APC2 Synonymous SNV P2110P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 209083 chr19 1470146 1470146 C T APC2 Synonymous SNV V2281V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 209084 chr19 36336411 36336411 C T NPHS1 Nonsynonymous SNV A597T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 209085 chr2 69741871 69741871 A G AAK1 Nonsynonymous SNV V503A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.96 209086 chr17 58506757 58506757 C A rs756200782 C17orf64 Nonsynonymous SNV S155Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 209087 chr19 1828469 1828469 G A rs749364854 REXO1 Nonsynonymous SNV R107W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 209088 chr19 2247948 2247948 C A rs767984205 SF3A2 Synonymous SNV P266P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.551 209089 chr17 59937167 59937167 T C rs141436143 BRIP1 Synonymous SNV Q65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.956 209090 chr7 92764490 92764490 A G rs369307541 SAMD9L Synonymous SNV N265N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.001 209091 chr19 2877736 2877736 G A rs146647850 ZNF556 Synonymous SNV E259E 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.907 209092 chr17 61428723 61428723 C G TANC2 Nonsynonymous SNV I566M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 209093 chr17 61611436 61611436 C T rs766596307 KCNH6 Nonsynonymous SNV R289W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 209094 chr19 38126294 38126294 T A ZFP30 Nonsynonymous SNV E383V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 209095 chr19 38126295 38126295 C T ZFP30 Nonsynonymous SNV E383K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 209096 chr2 79385548 79385548 C A rs753374073 REG3A Synonymous SNV V79V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 209097 chr19 38774311 38774311 A G rs202094610 SPINT2 Nonsynonymous SNV M51V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.8 209098 chr8 41792133 41792133 G C KAT6A Nonsynonymous SNV P1202R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.06 209099 chr17 67016572 67016572 G A rs764738392 ABCA9 Nonsynonymous SNV R853C 0.002 0 0 0 2 0 0 0 0 0 0 0 28 209100 chr8 54147531 54147531 A G rs146859342 OPRK1 Nonsynonymous SNV I133T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 209101 chr8 55541620 55541620 T C rs752077015 RP1 Synonymous SNV N1726N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 209102 chr8 17094846 17094846 T C CNOT7 Synonymous SNV L116L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.512 209103 chr8 61654069 61654069 A G CHD7 Synonymous SNV E26E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.51 209104 chr4 122723045 122723045 G C EXOSC9 Nonsynonymous SNV G44R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 209105 chr8 1842648 1842648 G C rs374059529 ARHGEF10 Synonymous SNV L412L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.82 209106 chr8 66619312 66619312 T A MTFR1 Synonymous SNV P162P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.846 209107 chr4 126412247 126412247 A G FAT4 Nonsynonymous SNV Q4758R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.55 209108 chr8 67067878 67067878 G A rs373183172 TRIM55 Synonymous SNV A515A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.36 209109 chr8 70533373 70533373 C G SULF1 Nonsynonymous SNV A494G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.99 209110 chr8 71574175 71574175 G A rs187401765 LACTB2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.883 209111 chr8 73849852 73849852 C A rs200944661 KCNB2 Synonymous SNV T754T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.03 209112 chr19 42837908 42837908 T G MEGF8 Synonymous SNV A113A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 209113 chr19 42852466 42852466 G A rs368461816 MEGF8 Nonsynonymous SNV A714T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.65 209114 chr19 42937184 42937184 C T rs777236268 CXCL17 Nonsynonymous SNV G69E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.076 209115 chr19 5785407 5785407 A T rs904165880 DUS3L Nonsynonymous SNV W381R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 209116 chr9 128069739 128069739 G A GAPVD1 Synonymous SNV V388V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 209117 chr19 6475286 6475286 G C rs746698655 DENND1C Nonsynonymous SNV P307R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 209118 chr17 72950358 72950358 C T rs752120081 HID1 Nonsynonymous SNV R580Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 209119 chr19 44515092 44515092 G A rs748850994 ZNF230 Nonsynonymous SNV V301I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 209120 chr17 73753514 73753514 G A rs201253100 ITGB4 Nonsynonymous SNV A1766T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.142 209121 chr8 25267625 25267625 G A rs774916006 DOCK5 Synonymous SNV S1805S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 209122 chr5 89821018 89821018 C T rs767911084 LYSMD3 Nonsynonymous SNV S30N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 209123 chr19 8136983 8136983 A G rs144808655 FBN3 Synonymous SNV N2679N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.346 209124 chr5 89990386 89990386 T G rs79915053 ADGRV1 Nonsynonymous SNV L2605V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 0.001 209125 chr17 76046783 76046783 G A TNRC6C Nonsynonymous SNV S547N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209126 chr5 90669512 90669512 G C rs764316578 ARRDC3 Nonsynonymous SNV L173V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.38 209127 chr4 162402237 162402237 A G FSTL5 Nonsynonymous SNV Y505H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.7 209128 chr22 29737521 29737521 C T rs149960917 AP1B1 Nonsynonymous SNV V589M 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 23.1 209129 chr22 29876520 29876520 C T rs61556467 NEFH Nonsynonymous SNV A90V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 not provided 23.1 209130 chr22 30403941 30403941 A G rs77189465 MTMR3 Nonsynonymous SNV Q310R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.38 209131 chr22 30733044 30733044 G A SF3A1 Nonsynonymous SNV P693S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 20.5 209132 chr5 96215478 96215478 C A rs769082342 ERAP2 Nonsynonymous SNV P30H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.102 209133 chr22 30783182 30783182 C A RNF215 Nonsynonymous SNV A41S 0 0 0 3 0 0 0.008 0 0 0 0 0 6.883 209134 chr8 38126694 38126694 C T rs1036404696 PLPP5 Synonymous SNV V8V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.53 209135 chr22 31927079 31927079 G C rs200150663 SFI1 Nonsynonymous SNV R101P 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.5 209136 chr8 48309078 48309078 T C SPIDR Nonsynonymous SNV L59P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.222 209137 chr9 137702117 137702117 C T rs368305377 COL5A1 Nonsynonymous SNV P1164L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 209138 chr19 48578087 48578087 C T rs747990436 PLA2G4C Nonsynonymous SNV E325K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 209139 chr9 139265801 139265801 C T rs115131813 CARD9 Synonymous SNV P99P 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 7.5 209140 chr19 49261454 49261454 C T rs760751014 FGF21 Stop gain R203X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 37 209141 chr9 116183421 116183421 C T rs200855551 C9orf43 Synonymous SNV C128C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.711 209142 chr2 153530184 153530184 T C rs201455048 PRPF40A Synonymous SNV P380P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.366 209143 chr17 79512783 79512783 T C rs773471507 FAAP100 Nonsynonymous SNV I767V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.099 209144 chr9 139391338 139391338 C T rs61751489 NOTCH1 Nonsynonymous SNV V2285I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Benign 0.391 209145 chr2 160289602 160289602 G A BAZ2B Synonymous SNV N459N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.079 209146 chr19 49714431 49714431 G A rs757878891 TRPM4 Nonsynonymous SNV C828Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 25.2 209147 chr17 79687174 79687174 A G rs566629694 SLC25A10 Nonsynonymous SNV Q283R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.534 209148 chr6 117246727 117246727 C A rs369627687 RFX6 Nonsynonymous SNV T597K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.14 209149 chr22 38119430 38119430 C T TRIOBP Synonymous SNV T289T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 8.92 209150 chr19 9489745 9489745 T C rs79577494 ZNF177, ZNF559-ZNF177 Synonymous SNV F47F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.834 209151 chr9 139904528 139904528 C T rs985955422 ABCA2 Synonymous SNV P2134P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 209152 chr18 2688423 2688423 G A SMCHD1 Nonsynonymous SNV V224M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 209153 chr19 51506413 51506413 C G KLK9 Nonsynonymous SNV S236T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 209154 chr9 125551738 125551738 G A rs144581550 OR5C1 Nonsynonymous SNV R176Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.53 209155 chr19 11319632 11319632 C T rs72985308 DOCK6 Synonymous SNV L1633L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.017 209156 chr19 11473204 11473204 G A rs754138795 PLPPR2 Nonsynonymous SNV V202M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 209157 chr9 17235710 17235710 G A rs146167182 CNTLN Nonsynonymous SNV V197I 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.981 209158 chr19 12384856 12384856 C T rs753445668 ZNF44 Nonsynonymous SNV G40S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.948 209159 chr19 13869917 13869917 A G CCDC130 Nonsynonymous SNV H86R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.243 209160 chr19 13873776 13873776 C T rs763356217 CCDC130 Nonsynonymous SNV S217L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 209161 chr19 13873785 13873785 G C rs781745414 CCDC130 Nonsynonymous SNV G220A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 209162 chr2 179422181 179422181 C T rs141624266 TTN Nonsynonymous SNV V20205I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.11 209163 chr19 14585030 14585030 A G PTGER1 Nonsynonymous SNV S35P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 209164 chr9 2729705 2729705 T C rs112673841 KCNV2 Nonsynonymous SNV L539P 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 4.185 209165 chr9 112017806 112017806 G A rs200085777 EPB41L4B Nonsynonymous SNV S385F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 209166 chr19 15852908 15852908 C T rs115375345 OR10H3 Nonsynonymous SNV R236W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 209167 chr22 50616224 50616224 C G rs150592820 PANX2 Synonymous SNV L361L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.438 209168 chr18 42530232 42530232 C T rs199603131 SETBP1 Synonymous SNV N309N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.003 209169 chr9 4118422 4118422 C G rs140880100 GLIS3 Synonymous SNV L197L 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.299 209170 chr18 44757522 44757522 C T rs1005955221 SKOR2 Nonsynonymous SNV R288Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.236 209171 chr19 17001240 17001240 C T rs2227347 F2RL3 Synonymous SNV Y322Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.658 209172 chr9 5465542 5465542 A G rs749591323 CD274 Synonymous SNV V128V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.258 209173 chr9 116750696 116750696 C T rs759301939 ZNF618 Nonsynonymous SNV T58M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 209174 chr9 5921173 5921173 T C rs375001882 KIAA2026 Nonsynonymous SNV D1608G 0 0.005 0 0 0 2 0 0 0 0 0 0 19.85 209175 chr8 27779581 27779581 C T rs372992077 SCARA5 Synonymous SNV A141A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.81 209176 chr9 135522393 135522393 G A rs767272666 DDX31 Synonymous SNV V445V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.242 209177 chr8 36644840 36644840 G T rs771900066 KCNU1 Nonsynonymous SNV G71V 0.003 0 0 0 3 0 0 0 0 0 0 0 1.037 209178 chr19 56206240 56206240 G A rs34908329 EPN1 Synonymous SNV P445P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.837 209179 chr8 38832210 38832210 C G rs148320690 HTRA4 Nonsynonymous SNV P143R 0.003 0 0 0 4 0 0 0 0 0 0 0 22.7 209180 chr9 79792598 79792598 C T rs757258613 VPS13A-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 209181 chr19 18273847 18273847 A G rs971051020 PIK3R2 Nonsynonymous SNV T394A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.49 209182 chr9 8507364 8507364 A G rs147878183 PTPRD Synonymous SNV P528P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 10.43 209183 chr8 57026165 57026165 C A MOS Nonsynonymous SNV R126L 0.003 0 0 0 3 0 0 0 0 0 0 0 21.9 209184 chr9 86570445 86570445 G A rs778093481 C9orf64 Nonsynonymous SNV R150W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 209185 chr9 91940457 91940457 A C SECISBP2 Nonsynonymous SNV T100P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 209186 chr8 72964852 72964852 G A rs147715599 TRPA1 Nonsynonymous SNV T598M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.28 209187 chr19 58921332 58921332 G C rs140024601 ZNF584 Nonsynonymous SNV G7R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 209188 chr18 72187270 72187270 G A rs145987468 CNDP2 Synonymous SNV A381A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 209189 chr9 98231389 98231389 C T rs559293815 PTCH1 Nonsynonymous SNV D580N 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 21.4 209190 chr6 26156678 26156680 GAA - rs545095988 H1-4 K23del 0 0.003 0 0 0 1 0 0 0 0 0 0 209191 chr2 125367427 125367427 C T rs201240274 CNTNAP5 Synonymous SNV A602A 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Benign 16.63 209192 chr19 23542504 23542504 G - rs376851241 ZNF91 Stop gain L1061* 0.001 0 0 1 1 0 0.003 0 0 0 0 0 209193 chr6 26251906 26251906 G T rs766235494 H2BC9 Nonsynonymous SNV A10S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.93 209194 chr18 74624285 74624285 A G rs200623153 ZNF236 Nonsynonymous SNV Q964R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 209195 chr18 77096645 77096645 C T rs763196705 ATP9B Synonymous SNV R682R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 209196 chr19 33464166 33464166 A C rs756420548 FAAP24 Nonsynonymous SNV N22H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.8 209197 chr19 757177 757177 G A rs34166705 MISP Synonymous SNV P77P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.594 209198 chr19 35524755 35524755 G A rs72558026 SCN1B Nonsynonymous SNV R187H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 209199 chr9 25677873 25677873 G A rs775604505 TUSC1 Synonymous SNV D149D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.996 209200 chr9 135173529 135173529 G A rs767373911 SETX Synonymous SNV L1907L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.19 209201 chr6 36442617 36442617 T C rs200626478 KCTD20 Nonsynonymous SNV I71T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.54 209202 chr19 36134412 36134412 G A rs751732564 ETV2 Nonsynonymous SNV V65M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.642 209203 chr9 32542801 32542801 C T rs12236253 TOPORS Synonymous SNV L509L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 1.642 209204 chr19 1109703 1109703 G A rs200132477 SBNO2 Synonymous SNV D977D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.884 209205 chr19 9020823 9020823 T C rs761291891 MUC16 Nonsynonymous SNV I12427V 0 0.003 0.01 0 0 1 0 3 0 0 0 0 0.001 209206 chr19 36592627 36592627 G A rs118175551 WDR62 Synonymous SNV P1011P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.671 209207 chrX 152710604 152710604 G A rs377225993 TREX2 Synonymous SNV G95G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.59 209208 chrX 152710754 152710754 G A rs369979100 TREX2 Synonymous SNV H45H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.019 209209 chrX 152771382 152771382 G A rs782233835 BGN Nonsynonymous SNV R138Q 0 0.005 0 0 0 2 0 0 0 0 0 0 21.5 209210 chr19 2230358 2230358 G T PLEKHJ1 Nonsynonymous SNV A213E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.049 209211 chr19 2234205 2234205 A C rs199802607 PLEKHJ1 Nonsynonymous SNV F88L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 209212 chrX 153039381 153039381 G C rs782313304 PLXNB3 Nonsynonymous SNV R1116T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 209213 chr9 138660704 138660704 C T rs375534850 KCNT1 Synonymous SNV A432A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.84 209214 chr19 3278060 3278060 G A rs147273114 CELF5 Synonymous SNV T185T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 209215 chr19 38817232 38817232 G A rs139277668 KCNK6 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 209216 chr19 38852357 38852357 T G rs3745953 CATSPERG Nonsynonymous SNV S610R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 209217 chr19 38865586 38865586 G A rs28384479 PSMD8 Synonymous SNV E115E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.7 209218 chr19 38876688 38876688 C T rs80351552 GGN Nonsynonymous SNV R405K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 209219 chr19 38876758 38876758 C T rs74911931 GGN Nonsynonymous SNV A382T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.82 209220 chr19 38877168 38877168 A G rs146483189 GGN Nonsynonymous SNV I245T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 209221 chr19 38882864 38882869 CCTCCT - SPRED3 S127_S128del 0.001 0 0 0 1 0 0 0 0 0 0 0 209222 chr19 38903860 38903860 C T rs201082138 RASGRP4 Synonymous SNV L274L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 209223 chr19 38990388 38990388 G A rs148426762 RYR1 Nonsynonymous SNV E2381K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.82 209224 chr1 103412450 103412450 C T rs147247206 COL11A1 Synonymous SNV P961P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.83 209225 chr6 46684785 46684785 T C PLA2G7 Nonsynonymous SNV Q53R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.003 209226 chr5 134347265 134347265 C T CATSPER3 Synonymous SNV D383D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.264 209227 chr9 72349104 72349104 T G rs139747326 PTAR1 Nonsynonymous SNV L51F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.2 209228 chr2 179391754 179391754 A G rs377439315 TTN Synonymous SNV H26922H 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.437 209229 chr2 179393691 179393691 G A rs55842557 TTN Nonsynonymous SNV T26531I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 209230 chr19 40095249 40095249 A G rs118188904 LGALS13 Nonsynonymous SNV Y8C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 209231 chr2 179396573 179396573 T G rs56375087 TTN Synonymous SNV T25858T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.3 209232 chr19 5914701 5914701 C G rs550872985 CAPS Nonsynonymous SNV R71G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 209233 chr9 90500595 90500595 G A rs748958456 SPATA31E1 Stop gain W398X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 209234 chr9 91667039 91667039 T A rs144076808 SHC3 Nonsynonymous SNV D292V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 209235 chr2 179643775 179643775 C T rs36021856 TTN Nonsynonymous SNV G1299D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 209236 chr6 56966087 56966087 T A ZNF451 Synonymous SNV T291T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.26 209237 chr5 140745129 140745129 A C rs200032836 PCDHGA5 Nonsynonymous SNV D411A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 209238 chr19 6904096 6904096 C A ADGRE1 Synonymous SNV I143I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 209239 chr19 42410714 42410714 G A rs368646630 ARHGEF1 Nonsynonymous SNV R833Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 209240 chr5 140857840 140857840 G A PCDHGC3 Synonymous SNV K719K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.03 209241 chr19 43965594 43965594 C T rs149095976 LYPD3 Nonsynonymous SNV G317E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.527 209242 chr19 7695505 7695505 A G rs184325854 PET100 Nonsynonymous SNV N25S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.4 209243 chr9 130581107 130581107 T G rs368533266 ENG Nonsynonymous SNV K439T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Uncertain significance 0.285 209244 chr9 99404124 99404124 G C rs151326868 PRXL2C Nonsynonymous SNV H200D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 209245 chr19 8188827 8188827 T G rs142483640 FBN3 Nonsynonymous SNV K933Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 209246 chr1 1266830 1266830 C T rs377360513 TAS1R3 Synonymous SNV Y35Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.756 209247 chr1 13942405 13942405 A G rs139860713 PDPN Synonymous SNV X121X 0 0 0.003 0 0 0 0 1 0 0 0 0 9.526 209248 chrX 114426337 114426337 G A rs190118922 RBMXL3 Nonsynonymous SNV R778H 0.004 0.008 0.003 0 5 3 0 1 1 1 0 0 15.15 209249 chr9 132585004 132585004 C T rs773480738 TOR1A Synonymous SNV L100L 0.005 0 0 0 6 0 0 0 0 0 0 0 Uncertain significance 8.263 209250 chr9 78803578 78803578 C T rs200937449 PCSK5 Synonymous SNV C789C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.55 209251 chrX 140993716 140993716 G C rs78700965 MAGEC1 Nonsynonymous SNV V176L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209252 chrX 140993722 140993722 A C rs80314937 MAGEC1 Nonsynonymous SNV I178L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 209253 chr1 3410562 3410563 CT - MEGF6 R1419Gfs*3 0 0.005 0 2 0 2 0.005 0 0 0 0 0 209254 chrX 140993745 140993745 T A rs74333625 MAGEC1 Nonsynonymous SNV S185R 0.003 0.003 0.003 0 4 1 0 1 1 0 0 0 0.382 209255 chrX 140993751 140993751 A G rs77851571 MAGEC1 Synonymous SNV Q187Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 209256 chrX 140993755 140993755 C A rs74748246 MAGEC1 Nonsynonymous SNV P189T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.017 209257 chr1 152080426 152080426 C G rs201312296 TCHH Nonsynonymous SNV R1756P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 209258 chr9 79972651 79972651 C T rs200293888 VPS13A Nonsynonymous SNV P2578L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 29 209259 chr19 46832591 46832591 G A rs747523164 HIF3A Nonsynonymous SNV R454H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 209260 chrX 153296142 153296142 G A rs61752980 MECP2 Synonymous SNV P391P 0.005 0.008 0 1 6 3 0.003 0 2 1 0 0 Benign 0.008 209261 chr19 9062860 9062860 C T rs190017162 MUC16 Nonsynonymous SNV A8196T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.213 209262 chr1 10714580 10714580 A G rs374760422 CASZ1 Synonymous SNV N578N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.408 209263 chr1 11008762 11008762 G A rs150987350 C1orf127 Nonsynonymous SNV T338I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.003 209264 chr5 167645405 167645405 G A rs373366103 TENM2 Synonymous SNV Q1264Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 2.701 209265 chr9 96021375 96021375 C A rs146411184 WNK2 Nonsynonymous SNV P849T 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 0.001 209266 chr19 9236775 9236775 C T OR7G3 Nonsynonymous SNV M284I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 209267 chr19 10260252 10260252 G A rs61750051 DNMT1 Synonymous SNV L805L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.23 209268 chr2 219617583 219617583 G A rs1004632019 TTLL4 Nonsynonymous SNV R1025Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 209269 chr2 219883772 219883772 C A rs141745438 CFAP65 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 209270 chr19 49969468 49969468 G A rs181566168 ALDH16A1 Synonymous SNV A571A 0.005 0 0 0 6 0 0 0 0 0 0 0 13.15 209271 chr19 11311109 11311109 A T rs200181665 DOCK6 Synonymous SNV I1992I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.4 209272 chr1 159163754 159163754 G A rs367893559 CADM3 Synonymous SNV A205A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 209273 chrX 70888697 70888697 T C rs956996412 LOC101059915 Synonymous SNV L348L 0.003 0.003 0 0 4 1 0 0 1 0 0 0 0.498 209274 chr19 50747534 50747534 G T rs119103280 MYH14 Nonsynonymous SNV G376C 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 209275 chr1 161130991 161130991 C T rs538169930 USP21 Synonymous SNV S216S 0 0 0.007 0 0 0 0 2 0 0 0 0 5.616 209276 chr1 161326469 161326469 G T rs570325845 SDHC Nonsynonymous SNV V29F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 209277 chr9 15458024 15458024 A T SNAPC3 Synonymous SNV L323L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 4.883 209278 chr19 50954167 50954167 G A MYBPC2 Synonymous SNV S518S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 209279 chr19 14196341 14196341 G A rs771913403 C19orf67 Synonymous SNV D33D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.212 209280 chr19 14196354 14196354 G A rs188884641 C19orf67 Nonsynonymous SNV P29L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.289 209281 chrX 14863136 14863136 A G rs142959373 FANCB Nonsynonymous SNV F590S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 209282 chrX 149639642 149639642 - CAGCAGCAA rs782453019 MAMLD1 Q581_P582insQQQ 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 209283 chr1 1168241 1168241 G C rs551984021 B3GALT6 Nonsynonymous SNV G195R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.31 209284 chr19 51630437 51630437 C A rs144680080 SIGLEC9 Stop gain S300X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 209285 chr19 14952501 14952501 G A rs202143392 OR7A10 Synonymous SNV L63L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.888 209286 chr1 1688070 1688070 C G rs753214672 NADK Nonsynonymous SNV S269T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.564 209287 chr2 230096647 230096647 C T rs560587616 PID1 Nonsynonymous SNV G42R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.16 209288 chr19 52032983 52032983 A C rs764392395 SIGLEC6 Nonsynonymous SNV V284G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 209289 chr1 6169875 6169875 G T CHD5 Nonsynonymous SNV A1853D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 209290 chr1 6206839 6206839 G T CHD5 Nonsynonymous SNV D492E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 209291 chr19 17212770 17212770 C T rs201695023 MYO9B Synonymous SNV N81N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 209292 chrX 35993311 35993311 A T rs140595411 CFAP47 Nonsynonymous SNV T768S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.277 209293 chr1 181702853 181702853 G A rs371974841 CACNA1E Nonsynonymous SNV V1058M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 209294 chr1 6534096 6534096 G A rs763551102 PLEKHG5 Nonsynonymous SNV R190C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 209295 chr19 17387665 17387665 G A rs201104012 BABAM1 Nonsynonymous SNV V170I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.549 209296 chr19 53573189 53573189 T C rs137866362 ZNF160 Nonsynonymous SNV K200E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.154 209297 chrX 47424707 47424707 C T rs371247311 ARAF Nonsynonymous SNV S175L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.25 209298 chr1 183909882 183909882 C G COLGALT2 Nonsynonymous SNV E479D 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 209299 chr1 184772734 184772734 C T rs760027367 NIBAN1 Synonymous SNV A513A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 209300 chr19 18121104 18121104 G A rs201831893 ARRDC2 Nonsynonymous SNV V312M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 209301 chr19 54973883 54973883 C T LENG9 Nonsynonymous SNV G298D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 209302 chr1 19525397 19525397 C A UBR4 Nonsynonymous SNV G135V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 209303 chr1 197616195 197616195 G A rs762222227 DENND1B Nonsynonymous SNV A166V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.732 209304 chr19 19338296 19338296 C T rs769428851 NCAN Nonsynonymous SNV P623S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.673 209305 chr1 33583643 33583643 C T rs768304574 AZIN2 Synonymous SNV Y295Y 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 1.209 209306 chrX 84362624 84362624 G T SATL1 Nonsynonymous SNV P451T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 209307 chr1 15766865 15766865 G A rs145868278 CTRC Nonsynonymous SNV R37Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.216 209308 chrX 90691368 90691368 C G PABPC5 Nonsynonymous SNV I264M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.252 209309 chr1 16534523 16534523 G A rs141036884 ARHGEF19 Nonsynonymous SNV R204W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 209310 chr19 32873802 32873802 G A rs561810770 ZNF507 Nonsynonymous SNV S892N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 209311 chr19 56104747 56104747 G A FIZ1 Nonsynonymous SNV A187V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.079 209312 chr19 56203301 56203301 C T rs201565739 EPN1 Nonsynonymous SNV P290L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 209313 chr19 33698440 33698440 A G rs370980315 LRP3 Nonsynonymous SNV M758V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 209314 chr7 149503834 149503834 G T rs141503732 SSPO 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 15.36 209315 chr3 121202260 121202260 G C rs140833780 POLQ Synonymous SNV S1981S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.182 209316 chr1 19992708 19992708 C T rs56027618 HTR6 Synonymous SNV A154A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 15.7 209317 chr5 82940452 82940452 G A rs773994130 HAPLN1 Nonsynonymous SNV R169C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 209318 chr19 35800842 35800842 G T rs146536656 MAG Nonsynonymous SNV V408L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.5 209319 chr19 57746342 57746342 T C rs145271279 AURKC Synonymous SNV I225I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.261 209320 chr10 114169371 114169371 C T rs144937522 ACSL5 Synonymous SNV D269D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.57 209321 chr19 36015763 36015763 C T rs554084082 SBSN Nonsynonymous SNV G568R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 209322 chr19 36212059 36212059 C T KMT2B Synonymous SNV L604L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 209323 chr19 36232024 36232024 G A rs146125042 IGFLR1 Nonsynonymous SNV P20S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.132 209324 chr2 30863413 30863413 G A rs6732314 LCLAT1 Synonymous SNV L353L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.724 209325 chr1 22828092 22828092 G A ZBTB40 Synonymous SNV L313L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 209326 chr7 151818834 151818896 GCCTGGGTTGGGTGGAGCAGAACCATCTTGGAGAAGATGACAGTTCCCTGTCCTCCCGGAGAT - GALNT11 G646_V666del 0 0.003 0 0 0 1 0 0 0 0 0 0 209327 chr2 31596796 31596796 G A rs140651875 XDH Synonymous SNV F543F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 8.271 209328 chr2 33042603 33042603 G C rs79079643 TTC27 Synonymous SNV R746R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 10.89 209329 chr19 58477992 58477992 G A rs146255633 C19orf18 Nonsynonymous SNV R93W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 209330 chr3 124739948 124739948 T C rs150448589 HEG1 Nonsynonymous SNV N314D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.878 209331 chr6 100868665 100868665 C T SIM1 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 209332 chr1 54562028 54562028 C T rs771321590 TCEANC2 Nonsynonymous SNV P170L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25.1 209333 chr1 54605390 54605390 C T rs768204684 CDCP2 Nonsynonymous SNV E385K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.744 209334 chr6 105850763 105850763 G A rs148038004 PREP Synonymous SNV L2L 0.003 0 0.007 3 3 0 0.008 2 0 0 0 0 12.13 209335 chr1 221913048 221913048 T C rs144387908 DUSP10 Synonymous SNV A13A 0 0.003 0.01 0 0 1 0 3 0 0 0 0 1.275 209336 chr1 57425834 57425834 A G rs199852869 C8B Synonymous SNV H36H 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 0.033 209337 chr19 38746861 38746861 T C rs35721010 PPP1R14A Nonsynonymous SNV K40R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.3 209338 chr1 27120612 27120612 C G rs764728447 PIGV Nonsynonymous SNV F29L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 209339 chr1 223985960 223985960 G A rs140226297 TP53BP2 Synonymous SNV S635S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.72 209340 chr19 38834954 38834954 C T rs560199397 CATSPERG Synonymous SNV N205N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.783 209341 chr6 110429781 110429781 C T rs148137530 WASF1 Synonymous SNV T124T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.49 209342 chr6 110768152 110768152 A T rs200912579 SLC22A16 Nonsynonymous SNV M192K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.246 209343 chr6 111688621 111688621 C T rs748551319 REV3L Nonsynonymous SNV V2124I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.48 209344 chr6 111694340 111694340 G A rs199957039 REV3L Nonsynonymous SNV R1740C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 21.1 209345 chr1 28220579 28220579 C A rs750051078 RPA2 Synonymous SNV G128G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 209346 chrX 48929540 48929540 C G PRAF2 Nonsynonymous SNV E175D 0.003 0 0 0 3 0 0 0 1 0 0 0 23.5 209347 chr1 29475176 29475176 C T rs148605776 SRSF4 Nonsynonymous SNV V411M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.011 209348 chr1 62739879 62739879 G A KANK4 Synonymous SNV L299L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.119 209349 chr1 226923392 226923392 G A rs548041016 ITPKB Nonsynonymous SNV R590W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 209350 chr6 114383916 114383916 C A HS3ST5 Nonsynonymous SNV G32W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28 209351 chr1 32167741 32167741 G A rs200253093 COL16A1 Synonymous SNV F18F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 209352 chr3 134911476 134911476 C T rs750145703 EPHB1 Synonymous SNV Y647Y 0 0 0 2 0 0 0.005 0 0 0 0 0 8.716 209353 chr1 67207016 67207016 G A rs376381645 SGIP1 Synonymous SNV L590L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.574 209354 chr20 3236756 3236756 C T rs140305967 C20orf194 Nonsynonymous SNV V1053I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.733 209355 chr10 134722049 134722049 C T rs753637047 CFAP46 Synonymous SNV A949A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 209356 chr6 127771400 127771400 A G rs140657174 KIAA0408 Nonsynonymous SNV I78T 0 0.005 0 2 0 2 0.005 0 0 0 0 1 0.376 209357 chr1 2289019 2289019 A C MORN1 Synonymous SNV P296P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 209358 chr1 38511444 38511444 G A POU3F1 Synonymous SNV S324S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 209359 chr19 44039594 44039594 C T rs752513206 ZNF575 Nonsynonymous SNV H165Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 209360 chr1 39827204 39827204 G A MACF1 Nonsynonymous SNV S2147N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 209361 chr2 71375191 71375191 A G MPHOSPH10 Synonymous SNV P540P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.091 209362 chr1 86048596 86048596 T C CCN1 Synonymous SNV D339D 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.055 209363 chr10 13701408 13701408 C T rs1031730680 FRMD4A Nonsynonymous SNV G352S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.44 209364 chr10 14896193 14896193 G A rs61749161 HSPA14 Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 209365 chr20 6759498 6759498 C T BMP2 Nonsynonymous SNV P318L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 209366 chr1 232649788 232649788 G C rs373443675 SIPA1L2 Nonsynonymous SNV S433C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 209367 chr1 235295178 235295178 A G rs369723742 RBM34 Synonymous SNV S380S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.488 209368 chr1 43613737 43613737 G A rs201846088 FAM183A Nonsynonymous SNV V39M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 209369 chr3 172834976 172834976 A G rs886058187 SPATA16 Synonymous SNV D182D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.486 209370 chr1 92442934 92442934 A C rs199521658 BRDT Nonsynonymous SNV D272A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 27.4 209371 chr7 45005797 45005797 G T rs141505221 MYO1G Nonsynonymous SNV H678N 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 23.5 209372 chr1 46491419 46491419 G A rs373015666 MAST2 Synonymous SNV A617A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 209373 chr19 45667177 45667177 C T rs777403161 TRAPPC6A Nonsynonymous SNV V149I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 209374 chr1 46747018 46747018 C T rs370433039 LRRC41 Nonsynonymous SNV R512Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 209375 chr1 47882227 47882227 C T rs146608794 FOXE3 Synonymous SNV I80I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.11 209376 chr1 245849938 245849938 C T rs61753904 KIF26B Nonsynonymous SNV S1218F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 209377 chr1 47904138 47904138 G A rs561234231 FOXD2 Nonsynonymous SNV G111R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 209378 chr7 5104131 5104131 C T RBAK Synonymous SNV S348S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.13 209379 chr19 48846637 48846637 G A rs370219775 TMEM143 Synonymous SNV P112P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.291 209380 chr1 248112554 248112554 T C rs202165563 OR2L8 Nonsynonymous SNV L132P 0 0 0.017 0 0 0 0 5 0 0 0 0 0.001 209381 chr1 60373592 60373592 C T rs373088300 CYP2J2 Nonsynonymous SNV G290D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.005 209382 chr1 62232067 62232067 G A rs760918830 PATJ Synonymous SNV S102S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.98 209383 chr1 65099840 65099840 T C rs999303032 CACHD1 Synonymous SNV V5V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.263 209384 chr1 74507023 74507023 C T rs201361860 LRRIQ3 Nonsynonymous SNV G531E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 209385 chr19 50885359 50885359 G A rs565686544 NR1H2 Synonymous SNV P291P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 209386 chr20 43837278 43837278 G A rs79500955 SEMG1 Nonsynonymous SNV R447H 0.003 0 0 0 4 0 0 0 0 0 0 0 9.397 209387 chr10 55582770 55582770 C T PCDH15 Synonymous SNV R1532R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 209388 chr4 676065 676065 C T rs772426185 SLC49A3 Synonymous SNV E336E 0 0 0.007 2 0 0 0.005 2 0 0 0 0 4.482 209389 chr10 6154185 6154185 G A rs148263630 RBM17 Synonymous SNV A239A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.367 209390 chr1 32162598 32162598 C T rs201698146 COL16A1 Nonsynonymous SNV R277H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 209391 chr1 32632776 32632776 A G rs775370186 KPNA6 Nonsynonymous SNV I375V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 209392 chr1 33060728 33060728 C T rs202045575 ZBTB8A Synonymous SNV R299R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 209393 chr20 44539820 44539820 T C rs369824142 PLTP Synonymous SNV K57K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.544 209394 chr20 46279866 46279866 - G rs770879424 NCOA3 Frameshift insertion Q1264Afs*21 0.001 0 0 1 1 0 0.003 0 0 0 0 0 209395 chr1 34663036 34663036 C T rs757551344 C1orf94 Synonymous SNV S177S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.431 209396 chr7 92734671 92734671 A G rs200540593 SAMD9 Nonsynonymous SNV I247T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.8 209397 chr4 2939987 2939987 G A NOP14 Stop gain Q792X 0 0 0 1 0 0 0.003 0 0 0 0 0 0.399 209398 chr10 70645601 70645601 A G STOX1 Synonymous SNV Q683Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.007 209399 chr1 36859483 36859483 T C rs201962650 LSM10 Nonsynonymous SNV H83R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.3 209400 chr19 52249876 52249876 A G FPR1 Synonymous SNV C124C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 209401 chr1 36932357 36932357 C A rs771254098 CSF3R Nonsynonymous SNV K704N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 209402 chr1 89849799 89849799 A G GBP6 Nonsynonymous SNV E409G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 209403 chr1 90398850 90398850 G A rs200937607 LRRC8D Nonsynonymous SNV V75I 0.001 0.003 0.007 4 1 1 0.01 2 0 0 0 0 0.129 209404 chr1 92185517 92185517 T C TGFBR3 Nonsynonymous SNV D448G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 209405 chr1 154989114 154989114 G A ZBTB7B Nonsynonymous SNV G525R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.8 209406 chr3 12627266 12627266 T C RAF1 Nonsynonymous SNV I370V 0 0 0 3 0 0 0.008 0 0 0 0 0 24 209407 chr4 7735134 7735134 G A rs565956372 SORCS2 Nonsynonymous SNV R1065Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 209408 chr4 7770663 7770663 G T AFAP1 Nonsynonymous SNV P692T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.601 209409 chr20 60913649 60913649 G A rs139957521 LAMA5 Nonsynonymous SNV A498V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 209410 chr4 8616204 8616204 A G rs764271670 CPZ Synonymous SNV S483S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 209411 chr3 130098666 130098666 C T rs367852284 COL6A5 Nonsynonymous SNV A358V 0 0.005 0 2 0 2 0.005 0 0 0 0 0 24 209412 chr1 44019257 44019257 G A rs749879491 PTPRF Synonymous SNV P62P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.852 209413 chr1 44477359 44477359 C T rs772994939 SLC6A9 Synonymous SNV L41L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.561 209414 chr4 13605476 13605476 C T rs773762500 BOD1L1 Synonymous SNV L1016L 0 0 0 2 0 0 0.005 0 0 0 0 0 3.306 209415 chr1 45473172 45473172 T C rs771300669 HECTD3 Synonymous SNV P472P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.776 209416 chr4 20525461 20525461 A G rs34224151 SLIT2 Synonymous SNV L407L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.378 209417 chr1 47279705 47279705 C T rs770487913 CYP4B1 Nonsynonymous SNV R86W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 209418 chr1 4829930 4829930 A G rs1018435717 AJAP1 Nonsynonymous SNV I283V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 209419 chr4 39280251 39280251 G A rs745506402 WDR19 Nonsynonymous SNV R1177Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.821 209420 chr6 37619969 37619969 G A rs757695690 MDGA1 Nonsynonymous SNV P377L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.6 209421 chr1 160914885 160914885 G A rs183839802 LOC101928372 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.642 209422 chr1 161183191 161183191 C G rs144411579 NDUFS2 Nonsynonymous SNV H380D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 32 209423 chr6 39607456 39607456 C G rs143055453 KIF6 Nonsynonymous SNV G110A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27 209424 chr1 118629598 118629598 T C SPAG17 Nonsynonymous SNV S465G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 209425 chr21 34956949 34956949 C T DONSON Synonymous SNV K244K 0.002 0 0 0 2 0 0 0 1 0 0 0 17.23 209426 chr3 148871401 148871401 A G rs149640235 HPS3 Nonsynonymous SNV I291V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.301 209427 chr6 43222314 43222314 C T TTBK1 Synonymous SNV S167S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.46 209428 chr21 42771237 42771237 G C rs138053041 MX2 Nonsynonymous SNV G463R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 209429 chr3 15457292 15457292 T C rs758607784 METTL6 Nonsynonymous SNV Q128R 0 0 0 3 0 0 0.008 0 0 0 0 0 0.838 209430 chr1 76343845 76343845 T C rs767764402 MSH4 Nonsynonymous SNV I461T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 209431 chr1 78001585 78001585 C G rs139378577 AK5 Synonymous SNV T468T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 12.36 209432 chr6 46630134 46630134 G T SLC25A27 Nonsynonymous SNV M135I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.5 209433 chr4 71522095 71522095 G A JCHAIN Nonsynonymous SNV T144I 0 0 0 2 0 0 0.005 0 0 0 0 0 18.62 209434 chr3 160804226 160804226 G T B3GALNT1 Nonsynonymous SNV S106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.84 209435 chr21 43716367 43716367 G A rs371959642 ABCG1 Synonymous SNV S634S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.166 209436 chr3 160804561 160804561 A G rs377470132 B3GALNT1 Synonymous SNV R114R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.582 209437 chr6 47680308 47680308 A T rs112251839 ADGRF4 Synonymous SNV T172T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 209438 chr21 45161615 45161615 G T rs370677926 PDXK Nonsynonymous SNV R30S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 209439 chr3 169487304 169487304 T C ACTRT3 Nonsynonymous SNV N2S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 209440 chr19 58864110 58864110 C T rs143526670 A1BG-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.541 209441 chr21 45757532 45757532 A G CFAP410 Synonymous SNV D32D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 209442 chr4 79860271 79860271 G A rs765629193 PAQR3 Synonymous SNV I36I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.29 209443 chr19 59023279 59023281 AGC - rs760686310 SLC27A5 L17del 0.001 0 0 0 1 0 0 0 0 0 0 0 209444 chr1 154918418 154918418 A G rs150327322 PBXIP1 Synonymous SNV L423L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.96 209445 chr3 183882080 183882080 C G DVL3 Nonsynonymous SNV P86R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.74 209446 chr22 17684466 17684466 G A rs750868279 ADA2 Nonsynonymous SNV A127V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.47 209447 chr1 201179050 201179050 A T IGFN1 Nonsynonymous SNV N1677Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.547 209448 chr20 10639179 10639179 C T rs1023620945 JAG1 Nonsynonymous SNV A211T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 209449 chr11 108043265 108043265 T G rs34027029 NPAT Nonsynonymous SNV T816P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 209450 chr1 156823914 156823914 G A rs62640942 INSRR Synonymous SNV Y89Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.909 209451 chr22 21384407 21384407 C T SLC7A4 Nonsynonymous SNV A406T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 209452 chr1 202858207 202858207 G A rs779708894 RABIF Nonsynonymous SNV P7L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.55 209453 chr22 22318382 22318382 C T rs752506133 TOP3B Nonsynonymous SNV E373K 0.001 0 0 0 1 0 0 0 0 0 0 0 22 209454 chr11 111899544 111899544 T A DLAT Nonsynonymous SNV Y179N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 209455 chr8 145999547 145999547 T C rs750584204 ZNF34 Nonsynonymous SNV S223G 0 0.005 0 0 0 2 0 0 0 0 0 0 10.89 209456 chr8 17722175 17722175 G A rs147835809 FGL1 Nonsynonymous SNV H289Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.1 209457 chr1 204951012 204951012 C T rs765506139 NFASC Synonymous SNV N789N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.19 209458 chr3 193374918 193374918 C G OPA1 Nonsynonymous SNV P652R 0 0 0 3 0 0 0.008 0 0 0 0 0 20.9 209459 chr6 90605096 90605096 G A rs759224297 GJA10 Stop gain W303X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 37 209460 chr1 205568353 205568353 A G rs144932899 MFSD4A Nonsynonymous SNV H488R 0.002 0.01 0 1 2 4 0.003 0 0 0 0 0 24.6 209461 chr11 117261540 117261540 G A rs781063589 CEP164 Nonsynonymous SNV R664Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.97 209462 chr20 2384325 2384325 G A rs142080899 TGM6 Nonsynonymous SNV D398N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 209463 chr22 26902397 26902397 C A rs746401440 TFIP11 Nonsynonymous SNV G100V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 209464 chr1 209605637 209605645 AGCAGCAGC - MIR205HG 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 209465 chr20 2776369 2776369 G A rs759523234 CPXM1 Synonymous SNV L532L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.802 209466 chr20 30496394 30496394 C T rs199888998 TTLL9 Synonymous SNV D69D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.37 209467 chr20 21689284 21689284 C G rs199677616 PAX1 Synonymous SNV P335P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.29 209468 chr22 30769659 30769659 G A CCDC157 Nonsynonymous SNV G470D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 209469 chr22 30769660 30769660 C G CCDC157 Synonymous SNV G470G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 209470 chr8 23564086 23564086 G T NKX2-6 Nonsynonymous SNV T9N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.9 209471 chr20 34144874 34144874 A G rs772070697 ERGIC3 Nonsynonymous SNV K337R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 209472 chr20 34542230 34542230 T G rs749579837 SCAND1 Synonymous SNV R56R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 209473 chr20 36640797 36640797 T C rs767378642 TTI1 Synonymous SNV R474R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.198 209474 chr20 31592111 31592111 G A rs773002826 SUN5 Synonymous SNV G12G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.27 209475 chr20 36999943 36999943 G T rs768703079 LBP Stop gain E413X 0 0 0.003 0 0 0 0 1 0 0 0 0 48 209476 chr22 35785936 35785936 G A rs201083816 HMOX1 Nonsynonymous SNV R239Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 209477 chr20 37396169 37396169 T C rs774003741 ACTR5 Nonsynonymous SNV M499T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 209478 chr1 177133707 177133707 T C rs763996363 ASTN1 Nonsynonymous SNV K36E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 209479 chr1 225519212 225519212 G A rs41303992 DNAH14 Nonsynonymous SNV R3266Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.3 209480 chr1 178820267 178820267 G T ANGPTL1 Nonsynonymous SNV D491E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 209481 chr11 124545226 124545226 G T rs376743796 SPA17 Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 209482 chr20 39977742 39977742 G A rs143795072 LPIN3 Nonsynonymous SNV E191K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 209483 chr20 39991521 39991521 G C rs142231817 EMILIN3 Nonsynonymous SNV P230A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 209484 chr20 40081493 40081493 C T rs150971479 CHD6 Synonymous SNV E1070E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 209485 chr20 45947387 45947387 A G rs186408745 LOC100131496 0 0 0.007 0 0 0 0 2 0 0 0 0 5.711 209486 chr20 46279858 46279866 CAGCAGCAA - rs749960421 NCOA3 Q1273_Q1275del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 209487 chr20 43132467 43132467 G A rs199784032 SERINC3 Synonymous SNV L348L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.952 209488 chr22 38509628 38509628 C T rs141777179 PLA2G6 Nonsynonymous SNV V636I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 33 209489 chr8 59059325 59059325 C G FAM110B Nonsynonymous SNV S179C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 209490 chr7 102937962 102937962 G A PMPCB Stop gain W19X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 209491 chr22 43272982 43272982 C T rs112729941 PACSIN2 Nonsynonymous SNV A355T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 209492 chr20 60318794 60318794 C T rs762875694 CDH4 Synonymous SNV A78A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 209493 chr20 60893580 60893580 C A LAMA5 Nonsynonymous SNV R2390L 0 0 0.007 0 0 0 0 2 0 0 0 0 27.5 209494 chr20 56099131 56099131 G T rs754143322 CTCFL Nonsynonymous SNV P44H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 209495 chr22 45927154 45927154 T C FBLN1 Nonsynonymous SNV I165T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 209496 chr22 46319159 46319159 G A rs61733604 WNT7B Synonymous SNV C209C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.078 209497 chr20 60886294 60886294 G T rs150238261 LAMA5 Synonymous SNV R3338R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.941 209498 chr22 50187871 50187871 T C rs752678312 BRD1 Nonsynonymous SNV M719V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 209499 chr22 50279764 50279764 C T rs751478520 ZBED4 Synonymous SNV N818N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.296 209500 chr1 203668757 203668757 G A rs150802414 ATP2B4 Synonymous SNV E187E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.688 209501 chr1 203680105 203680105 G A rs770893263 ATP2B4 Nonsynonymous SNV G634R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 209502 chr1 203680200 203680200 C T rs140720036 ATP2B4 Synonymous SNV I665I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 209503 chr11 2185559 2185559 G A rs118175546 TH Synonymous SNV I466I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.776 209504 chr1 205028717 205028717 G T CNTN2 Nonsynonymous SNV R235L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 209505 chr5 14387930 14387930 G A rs758315644 TRIO Synonymous SNV E1285E 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 10.07 209506 chr5 31534478 31534478 G A rs954947790 C5orf22 Nonsynonymous SNV V61M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.8 209507 chr20 62178748 62178748 G A SRMS Synonymous SNV G23G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.626 209508 chr1 247752512 247752512 T C rs754236597 OR2G2 Nonsynonymous SNV V284A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 24.4 209509 chr1 210414969 210414969 G A rs200231133 SERTAD4 Nonsynonymous SNV D120N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 209510 chr11 3141735 3141735 G A rs141294610 OSBPL5 Synonymous SNV C174C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.71 209511 chr11 32956011 32956011 G A rs749855193 QSER1 Nonsynonymous SNV M1069I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.734 209512 chr11 33564350 33564350 A G rs199578357 KIAA1549L Nonsynonymous SNV H414R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 209513 chr5 54442501 54442501 C T rs201161421 CDC20B Nonsynonymous SNV G104R 0 0 0 2 0 0 0.005 0 0 0 0 0 16.21 209514 chr1 225268268 225268268 T C DNAH14 Nonsynonymous SNV V985A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 209515 chr9 123202247 123202247 G C rs756094054 CDK5RAP2 Nonsynonymous SNV S821C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 209516 chr21 38569874 38569874 T C rs146011177 TTC3 Synonymous SNV T1139T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.088 209517 chr21 38877759 38877759 T C DYRK1A Synonymous SNV Y433Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 209518 chr21 42843874 42843874 C T rs772504668 TMPRSS2 Nonsynonymous SNV A349T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 209519 chrX 100613625 100613625 A G rs5991926 BTK Synonymous SNV S318S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.387 209520 chr21 46841328 46841328 G A rs11701479 COL18A1-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 5.11 209521 chr1 228470882 228470882 C T rs768829091 OBSCN Synonymous SNV G2878G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.807 209522 chr21 46910774 46910774 C G COL18A1 Nonsynonymous SNV R866G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 209523 chr2 20451461 20451461 G A PUM2 Nonsynonymous SNV T948I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.73 209524 chrX 111874688 111874688 T C rs770689516 LHFPL1 Nonsynonymous SNV N208S 0.002 0 0 0 2 0 0 0 1 0 0 0 15.31 209525 chr21 47533977 47533977 G A rs148029276 COL6A2 Nonsynonymous SNV R264H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.5 209526 chr7 158552823 158552823 C T ESYT2 Nonsynonymous SNV E417K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 209527 chr1 232650623 232650623 G A SIPA1L2 Nonsynonymous SNV P155S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 209528 chr5 79025828 79025828 G A rs201209818 CMYA5 Nonsynonymous SNV V414I 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.255 209529 chrX 135958696 135958696 T C rs112800567 RBMX Synonymous SNV G169G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.622 209530 chrX 135958704 135958704 G C rs112089728 RBMX Nonsynonymous SNV P167A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 209531 chr21 45560860 45560860 T G GATD3A Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.907 209532 chr21 45877193 45877193 C T rs763370334 LRRC3 Synonymous SNV V222V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.139 209533 chr21 45978027 45978027 G A rs374354141 KRTAP10-3 Nonsynonymous SNV P191L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 209534 chr21 45978028 45978028 G T rs201268694 KRTAP10-3 Nonsynonymous SNV P191T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.15 209535 chr5 82833030 82833030 C G VCAN Nonsynonymous SNV T416R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 209536 chr22 21084208 21084208 G A rs139857256 PI4KA Synonymous SNV S1429S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.12 209537 chr21 46935901 46935901 C T SLC19A1 Nonsynonymous SNV A443T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.177 209538 chr1 241676942 241676942 A T rs1029743950 FH Nonsynonymous SNV D113E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.84 209539 chr22 23524386 23524386 C G rs56321828 BCR Nonsynonymous SNV I413M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.53 209540 chr1 247267425 247267425 G A rs61737554 ZNF669 Nonsynonymous SNV P26L 0.002 0 0.014 0 2 0 0 4 0 0 0 0 5.647 209541 chr22 17690429 17690429 C T rs202134424 ADA2 Nonsynonymous SNV G47R 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 26.4 209542 chr22 26110491 26110491 C T rs147699642 GRK3 Synonymous SNV I423I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 209543 chr2 42528465 42528465 C T EML4 Nonsynonymous SNV T467I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 29.5 209544 chr22 31284947 31284947 T C rs4820913 LOC107985544 0 0 0.007 0 0 0 0 2 0 0 0 0 0.789 209545 chr22 31318458 31318458 A G rs150601758 MORC2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.687 209546 chr2 48027375 48027375 T C rs2020913 MSH6 Synonymous SNV N621N 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Benign 0.002 209547 chr1 3328823 3328823 G A rs367580261 PRDM16 Nonsynonymous SNV A688T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.6 209548 chr22 32546411 32546411 T C rs145900833 C22orf42 Synonymous SNV T183T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.526 209549 chr9 138645822 138645822 G A rs139076605 KCNT1 Synonymous SNV S110S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.54 209550 chr22 29754839 29754839 T C rs753654962 AP1B1 Nonsynonymous SNV D134G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 209551 chr22 39222627 39222627 G A rs34637063 NPTXR Nonsynonymous SNV R326W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 209552 chr22 41832541 41832541 A G rs374752853 TOB2 Nonsynonymous SNV L270P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 209553 chr5 137354665 137354665 C T rs79543971 FAM13B Nonsynonymous SNV V46M 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 28 209554 chr9 141015260 141015260 C T rs752121300 CACNA1B Nonsynonymous SNV P2139L 0 0.008 0 1 0 3 0.003 0 0 0 0 0 15.63 209555 chr22 34022260 34022260 G A rs199822331 LARGE1 Synonymous SNV V153V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 209556 chr5 137621421 137621421 C T rs139145068 CDC25C Nonsynonymous SNV R388Q 0.003 0 0.01 4 3 0 0.01 3 0 0 0 0 21.2 209557 chr5 137654980 137654980 G A rs111911741 CDC25C Synonymous SNV N108N 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 0.196 209558 chr22 46643007 46643007 C T rs763307321 CDPF1 Synonymous SNV P75P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 209559 chr9 27062666 27062666 G A rs138591335 IFT74 Nonsynonymous SNV V579M 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 Benign 29.6 209560 chr2 84945450 84945450 C A rs371653866 DNAH6 Nonsynonymous SNV T3245N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 15.31 209561 chr22 38993287 38993287 T C rs751226372 FAM227A Nonsynonymous SNV N485S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 209562 chr9 33466088 33466088 G A rs138543416 NOL6 Nonsynonymous SNV T782M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.7 209563 chr22 39545829 39545829 G C rs147104497 CBX7 Synonymous SNV V26V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 209564 chr22 39715075 39715075 A G SNORD43 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 209565 chr22 41257834 41257834 - A rs200971397 DNAJB7 Frameshift insertion L56Ifs*4 0.003 0 0 1 3 0 0.003 0 1 0 0 0 209566 chr2 28070966 28070966 T C RBKS 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 209567 chr7 73790930 73790930 C T rs149170607 CLIP2 Synonymous SNV H698H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.83 209568 chr2 30748587 30748587 A G rs116243478 LCLAT1 Nonsynonymous SNV N44S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 209569 chr2 96040956 96040956 G A KCNIP3 Synonymous SNV E123E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.56 209570 chr2 31560652 31560652 G A rs749289091 XDH Nonsynonymous SNV A1269V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 209571 chr5 145610229 145610229 A G RBM27 Nonsynonymous SNV E200G 0 0 0 3 0 0 0.008 0 0 0 0 0 21.8 209572 chr2 108872071 108872071 A G rs17035911 SULT1C3 Nonsynonymous SNV Y148C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.73 209573 chr7 82581811 82581811 T C rs149645551 PCLO Nonsynonymous SNV M2820V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 209574 chr5 147806910 147806910 A G rs775906161 FBXO38 Nonsynonymous SNV M685V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 23.9 209575 chr4 3076624 3076624 - CAGCAGCAG HTT Q38_P39insQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 209576 chr2 11264860 11264860 C T rs150361150 FLJ33534 0 0 0.007 0 0 0 0 2 0 0 0 0 4.686 209577 chr2 43793902 43793902 T C rs752764775 THADA Nonsynonymous SNV Y749C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 209578 chr2 46707808 46707808 - AGCGGCAGCATGAGGTGGTGATGGAGCAGCTGCAGCGGG TMEM247 Q152_Q153insRERQHEVVMEQLQ 0.001 0 0 0 1 0 0 0 0 0 0 0 209579 chr5 149776147 149776149 AAG - rs773205979 TCOF1 K1289del 0.001 0 0 4 1 0 0.01 0 0 0 0 0 209580 chr2 47287952 47287952 T C TTC7A Nonsynonymous SNV C379R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 209581 chr2 47635667 47635667 G A rs35898375 MSH2 Synonymous SNV K113K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 5.586 209582 chr11 58207376 58207376 A G OR5B12 Synonymous SNV F83F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209583 chr5 154304112 154304112 C G GEMIN5 Synonymous SNV L431L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.51 209584 chr5 155771540 155771540 T A rs727505092 SGCD Synonymous SNV P14P 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.104 209585 chr2 69732722 69732722 T C rs746383114 AAK1 Nonsynonymous SNV T750A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 209586 chr2 71206913 71206913 C T rs143137377 ANKRD53 Synonymous SNV L180L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 209587 chr2 128931468 128931468 T C rs147069630 UGGT1 Synonymous SNV T1136T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 2.798 209588 chrX 12736144 12736144 A G rs910322010 FRMPD4 Nonsynonymous SNV T1027A 0.002 0 0 0 2 0 0 0 1 0 0 0 2.473 209589 chr1 35370518 35370518 G A rs144823481 DLGAP3 Nonsynonymous SNV T156M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.8 209590 chr5 173035296 173035296 - TTAGGAAGTGTCCTGGGATGGAGCTGGAGGGTCCTGGCCT BOD1 0 0 0 3 0 0 0.008 0 0 0 0 0 209591 chr1 40980820 40980820 C T rs141898603 EXO5 Nonsynonymous SNV R202C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 209592 chr8 124812122 124812122 T C rs141609684 FAM91A1 Synonymous SNV I360I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.642 209593 chr2 160833202 160833202 G T rs751209324 PLA2R1 Nonsynonymous SNV Q811K 0 0 0.01 0 0 0 0 3 0 0 0 0 6.371 209594 chr2 169622135 169622135 G A CERS6 Synonymous SNV E293E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 209595 chr2 169764118 169764118 C G G6PC2 Nonsynonymous SNV I199M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 209596 chr2 160285727 160285727 T C BAZ2B Nonsynonymous SNV I684V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 12.86 209597 chr2 169948464 169948464 G A DHRS9 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 209598 chrX 100105174 100105174 T G rs1028097649 NOX1 Synonymous SNV R330R 0.002 0 0 0 2 0 0 0 1 0 0 0 1.402 209599 chr2 165809223 165809223 C T rs781747709 SLC38A11 Nonsynonymous SNV V19I 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 5.309 209600 chr2 171570334 171570334 G A LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 209601 chr2 172926313 172926313 G A rs781682409 METAP1D Nonsynonymous SNV R43Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 209602 chrX 106065256 106065256 C G TBC1D8B Nonsynonymous SNV P137R 0.002 0 0 0 2 0 0 0 1 0 0 0 26 209603 chr2 167056226 167056226 A G rs199550149 SCN9A Synonymous SNV L1641L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.903 209604 chr2 174128514 174128514 G A rs201232328 MAP3K20 Synonymous SNV S531S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.362 209605 chr1 46532610 46532610 C G LOC110117498-PIK3R3, PIK3R3 Synonymous SNV L75L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.755 209606 chr11 64591992 64591992 G A rs138706676 CDC42BPG Nonsynonymous SNV R1537W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 209607 chr2 175742704 175742704 G A rs200087044 CHN1 Nonsynonymous SNV T138M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 209608 chr2 176995299 176995299 C T HOXD8 Nonsynonymous SNV H69Y 0 0 0.007 0 0 0 0 2 0 0 0 0 19.94 209609 chr2 107459845 107459845 A G ST6GAL2 Nonsynonymous SNV S197P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.26 209610 chr2 179410973 179410973 C A rs746787955 TTN Synonymous SNV G22630G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.03 209611 chr2 170462649 170462649 C T rs149918056 PPIG Synonymous SNV F79F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.849 209612 chrX 136112398 136112398 G A GPR101 Nonsynonymous SNV P479L 0.002 0 0 0 2 0 0 0 1 0 0 0 12.1 209613 chrX 138729028 138729028 C T rs372437732 MCF2 Synonymous SNV T20T 0.002 0 0 0 2 0 0 0 1 0 0 0 16.09 209614 chrX 149938823 149938823 G A rs147156476 CD99L2 Synonymous SNV Y152Y 0.002 0 0 0 2 0 0 0 1 0 0 0 7.362 209615 chr2 179614395 179614395 T C rs765962390 TTN Synonymous SNV S4244S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.67 209616 chr2 179407881 179407881 G A rs200362127 TTN Synonymous SNV Y23208Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.085 209617 chrX 153692792 153692792 G A rs375186286 PLXNA3 Nonsynonymous SNV V626M 0.002 0 0 0 2 0 0 0 1 0 0 0 9.522 209618 chr2 182766723 182766723 A G rs377480822 ITPRID2 Nonsynonymous SNV S162G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.794 209619 chr1 880483 880483 A G rs144656266 NOC2L Synonymous SNV D699D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.106 209620 chr11 66359296 66359296 C T CCDC87 Synonymous SNV E397E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.359 209621 chr2 10747392 10747392 T A rs201230711 NOL10 Nonsynonymous SNV T332S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 209622 chr1 65332759 65332759 G A rs368468194 JAK1 Synonymous SNV S260S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.8 209623 chr2 11810058 11810058 C T rs778093070 NTSR2 Synonymous SNV G66G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.27 209624 chr2 189957113 189957113 G C COL5A2 Nonsynonymous SNV P164A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.9 209625 chr1 68173334 68173334 G A rs61754629 GNG12 Synonymous SNV A12A 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 7.734 209626 chr1 68905252 68905252 G A RPE65 Synonymous SNV Y239Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.697 209627 chr10 102296188 102296188 C T rs11553944 HIF1AN Synonymous SNV D66D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.45 209628 chr8 145556860 145556860 G T rs370594178 SCRT1 Nonsynonymous SNV P345H 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 22.9 209629 chr8 145583505 145583505 C A rs117500243 SLC52A2 Nonsynonymous SNV A118D 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 209630 chr8 145615940 145615940 G A rs56192724 ADCK5 Synonymous SNV V112V 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 7.149 209631 chr2 198267431 198267431 A T rs770939412 SF3B1 Synonymous SNV P642P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.762 209632 chr2 201407372 201407372 G A rs202174872 SGO2 Nonsynonymous SNV R153H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.903 209633 chr2 187627484 187627484 C T FAM171B Synonymous SNV A805A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.7 209634 chr8 146029115 146029115 C T rs546242054 ZNF517 Synonymous SNV D41D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.94 209635 chr10 105344844 105344844 C T rs774140005 NEURL1 Synonymous SNV L401L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.45 209636 chr1 86435918 86435918 C T COL24A1 Nonsynonymous SNV G119R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 209637 chr6 35195397 35195397 C T rs76268578 SCUBE3 Synonymous SNV I42I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 209638 chr6 35201025 35201025 G A rs749321993 SCUBE3 Nonsynonymous SNV R219Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.3 209639 chr2 203991552 203991552 A T rs765693250 NBEAL1 Nonsynonymous SNV I1022L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 209640 chr6 35443349 35443349 C T rs772003018 TEAD3 Synonymous SNV K345K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.63 209641 chr2 205986331 205986331 C T rs140915034 PARD3B Nonsynonymous SNV R275C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 209642 chr10 1065463 1065463 T A rs376276027 IDI2 Nonsynonymous SNV R226S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 209643 chr10 106865192 106865192 C T rs74157425 SORCS3 Synonymous SNV A377A 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 13.36 209644 chr11 7324301 7324301 C T rs201688740 SYT9 Synonymous SNV V59V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.37 209645 chr2 197183671 197183671 C T rs776095470 HECW2 Nonsynonymous SNV S292N 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 20.5 209646 chr2 207345962 207345962 C T rs141978401 ADAM23 Nonsynonymous SNV H147Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 209647 chr2 197791305 197791305 C T rs755772242 PGAP1 Synonymous SNV A12A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 20.1 209648 chr6 36689782 36689782 T C RAB44 Nonsynonymous SNV V624A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.113 209649 chr2 160889495 160889495 A G rs149256089 PLA2R1 Synonymous SNV D272D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.848 209650 chr2 208632227 208632227 G A rs144525693 FZD5 Synonymous SNV L413L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 5.812 209651 chr1 94543268 94543268 C T rs140482171 ABCA4 Nonsynonymous SNV R511H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 209652 chr1 11345981 11345981 G A UBIAD1 Synonymous SNV L270L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 209653 chr2 219110232 219110232 C T rs752355286 ARPC2 Synonymous SNV D213D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 209654 chr1 108309153 108309153 C T rs201661016 VAV3 Nonsynonymous SNV R246Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 209655 chr2 219544658 219544658 A C rs199608845 STK36 Nonsynonymous SNV T331P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 209656 chr2 211068103 211068103 - TTAAACATAACA rs779456934 ACADL N312_Y313insVMFN 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 209657 chr2 211068107 211068107 C A rs377085604 ACADL Nonsynonymous SNV R311M 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 Benign 27.9 209658 chr2 211068110 211068111 GT - rs549315531 ACADL T310Qfs*5 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 209659 chr1 12726654 12726654 G A rs771450117 AADACL4 Nonsynonymous SNV G378R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 209660 chr2 219895973 219895973 G A rs143077883 CFAP65 Synonymous SNV P225P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.166 209661 chr1 14075879 14075879 C T rs760560043 PRDM2 Synonymous SNV L136L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 209662 chr2 180835518 180835518 T C CWC22 Nonsynonymous SNV I336V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.7 209663 chr5 137910985 137910985 G A rs374931364 HSPA9 Nonsynonymous SNV A8V 0 0 0 2 0 0 0.005 0 0 0 0 0 12.78 209664 chr1 14925547 14925547 G C KAZN Synonymous SNV S18S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 209665 chr1 17313391 17313391 G C rs56126202 ATP13A2 Synonymous SNV T1004T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.107 209666 chr8 37964579 37964579 C T rs200960407 ASH2L Nonsynonymous SNV A5V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 23.4 209667 chr10 133981810 133981810 G T JAKMIP3 Synonymous SNV P962P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.177 209668 chr2 196718094 196718094 G A rs147463217 DNAH7 Synonymous SNV L2918L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.53 209669 chr6 53986286 53986286 A G rs143453914 MLIP Synonymous SNV T35T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 4.132 209670 chr10 134722710 134722710 G A rs997192546 CFAP46 Synonymous SNV L896L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.163 209671 chr2 201434409 201434409 A G rs141418375 SGO2 Nonsynonymous SNV D166G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 209672 chr6 54245370 54245370 G A rs769491351 TINAG 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 209673 chr2 232325415 232325420 TCATCA - rs371359723 NCL D257_D258del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 209674 chr6 57075125 57075125 T C rs767442221 RAB23 Synonymous SNV G18G 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.307 209675 chr2 233898871 233898871 C T rs141846686 NEU2 Nonsynonymous SNV R83W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 209676 chr10 135015379 135015379 G T rs369397796 KNDC1 Nonsynonymous SNV A1122S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 0.012 209677 chr6 66200539 66200539 G T EYS Stop gain C270X 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 209678 chr2 234750052 234750052 G A rs990072378 HJURP Synonymous SNV L373L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.316 209679 chr12 104379508 104379508 - GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTAATGGGC TDG 0.001 0 0 0 1 0 0 0 0 0 0 0 209680 chr2 237272516 237272516 C T rs765879205 IQCA1 Synonymous SNV T551T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 209681 chr6 76602390 76602390 C T rs774066115 MYO6 Synonymous SNV A1030A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 19 209682 chr8 75276444 75276444 A G GDAP1 Nonsynonymous SNV T249A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.3 209683 chr12 109186464 109186464 A C SSH1 Nonsynonymous SNV D508E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209684 chr10 21805789 21805789 A T SKIDA1 Synonymous SNV T321T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.042 209685 chr8 82615252 82615252 G A rs142017081 ZFAND1 Synonymous SNV A189A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.837 209686 chr8 82714701 82714701 A T rs901919189 SNX16 Nonsynonymous SNV D255E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 209687 chr8 90936772 90936772 G A rs749844272 OSGIN2 Nonsynonymous SNV R221H 0 0 0 2 0 0 0.005 0 0 0 0 0 19.24 209688 chr2 25039612 25039612 T C rs753928141 CENPO Nonsynonymous SNV F225S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.058 209689 chr1 27687695 27687695 C T rs143793155 MAP3K6 Synonymous SNV P587P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.49 209690 chr1 154842200 154842205 GCTGCT - KCNN3 Q79_Q80del 0 0.005 0 0 0 2 0 0 0 0 0 0 209691 chr1 155451295 155451295 G A rs746820833 ASH1L Synonymous SNV L456L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.858 209692 chr2 27282240 27282240 A G AGBL5 Nonsynonymous SNV K686R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 209693 chr2 27449802 27449802 A G rs145032374 CAD Synonymous SNV T690T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.422 209694 chr1 32673043 32673043 C G rs375598262 IQCC Nonsynonymous SNV P334R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 209695 chr1 33361339 33361339 C T rs543145214 TMEM54 Stop gain W72X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 209696 chr1 33960877 33960877 A G rs200521289 ZSCAN20 Nonsynonymous SNV Q978R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 209697 chr9 106882342 106882342 G A rs374266125 SMC2 Synonymous SNV K677K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.48 209698 chr12 122773065 122773065 G T rs375797056 CLIP1 Synonymous SNV L1160L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 209699 chr2 224743410 224743410 G A rs149448078 WDFY1 Nonsynonymous SNV A404V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 209700 chr10 46970755 46970755 G C LOC102724488 Nonsynonymous SNV L20V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.407 209701 chr3 8809388 8809388 G A rs200541397 OXTR Synonymous SNV L162L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.9 209702 chr2 43814100 43814100 A G rs768040706 THADA Nonsynonymous SNV M115T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 209703 chr3 9932427 9932427 G C rs138937423 JAGN1 Synonymous SNV P7P 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 Benign 14.74 209704 chr3 9956157 9956157 A T rs569387142 IL17RE 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 2.235 209705 chr3 9959632 9959632 G A rs148170215 IL17RC Synonymous SNV G51G 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign 0.146 209706 chr3 9962622 9962622 C T rs139727834 IL17RC Synonymous SNV L197L 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Benign 15.17 209707 chr9 113192229 113192229 T G rs192233477 SVEP1 Synonymous SNV A1862A 0.001 0.008 0.003 3 1 3 0.008 1 0 0 0 0 9.956 209708 chr3 9990892 9990892 G C rs556776587 PRRT3 Nonsynonymous SNV P303R 0.005 0.008 0.003 1 6 3 0.003 1 0 0 0 0 16.72 209709 chr2 48808883 48808883 G C rs148255611 STON1, STON1-GTF2A1L Nonsynonymous SNV D371H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 209710 chr1 42048237 42048237 A C HIVEP3 Nonsynonymous SNV D744E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 209711 chr2 54021490 54021490 T G rs147542799 ERLEC1 Synonymous SNV T57T 0 0 0.01 3 0 0 0.008 3 0 0 0 0 9.19 209712 chr10 52834584 52834584 G A PRKG1 Synonymous SNV A78A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.62 209713 chr1 162469947 162469947 G A rs767610803 UHMK1 Synonymous SNV A83A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.04 209714 chr5 179160354 179160354 A C MAML1 Nonsynonymous SNV T81P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.005 209715 chr5 179201001 179201001 A G rs200552115 MAML1 Nonsynonymous SNV H725R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.21 209716 chr10 5495270 5495270 A G rs779055914 NET1 Nonsynonymous SNV I164V 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 209717 chr2 67630018 67630018 A C rs201042009 ETAA1 Nonsynonymous SNV M152L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 209718 chr2 234969066 234969066 C T rs150700652 SPP2 Synonymous SNV G129G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.02 209719 chr10 5788680 5788680 C T rs115693546 TASOR2 Nonsynonymous SNV S1018L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.496 209720 chr2 70223879 70223879 C T rs150406575 PCBP1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 9.953 209721 chr2 71043950 71043950 T C rs781949097 CLEC4F Nonsynonymous SNV E188G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 209722 chr2 238287800 238287800 C T rs36092870 COL6A3 Nonsynonymous SNV R252H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.4 209723 chr12 1920852 1920852 G T rs978184450 CACNA2D4 Synonymous SNV R863R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.586 209724 chr3 30732989 30732989 G A rs140818646 TGFBR2 Synonymous SNV V534V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 10.54 209725 chr10 64977084 64977084 A G rs769760871 JMJD1C Synonymous SNV Y5Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.007 209726 chr2 239165570 239165570 C T rs139338215 PER2 Synonymous SNV P686P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 209727 chr10 67862930 67862930 T C rs750151799 CTNNA3 Synonymous SNV E654E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.132 209728 chr2 84517811 84517811 C T rs572069114 FUNDC2P2 0 0 0.01 0 0 0 0 3 0 0 0 0 10.15 209729 chr1 53925556 53925556 G T rs555846303 DMRTB1 Nonsynonymous SNV V144L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 209730 chr3 38103712 38103712 C T rs760485634 DLEC1 Synonymous SNV S242S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.38 209731 chr10 72360130 72360130 G A rs201468340 PRF1 Nonsynonymous SNV R177C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 209732 chr2 242035479 242035493 GTCATCCTCATCATT - rs745932546 MTERF4 N168_D172del 0.001 0 0 0 1 0 0 0 0 0 0 0 209733 chr2 242148800 242148800 C T rs375996958 ANO7 Nonsynonymous SNV T393M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 209734 chr2 242148936 242148936 C T rs774410690 ANO7 Synonymous SNV A415A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 209735 chr5 35065754 35065754 C T PRLR Nonsynonymous SNV V335M 0 0 0 2 0 0 0.005 0 0 0 0 0 0.006 209736 chr2 242573195 242573195 C T rs757997118 THAP4 Nonsynonymous SNV G126D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 209737 chr12 2970508 2970508 G A rs149952467 FOXM1 Nonsynonymous SNV T446I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 209738 chr2 97353685 97353685 G T FER1L5 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 209739 chr1 57406644 57406644 G A rs760338411 C8B Synonymous SNV L426L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.363 209740 chr2 99181170 99181170 G A rs759905070 INPP4A Nonsynonymous SNV R649H 0 0 0.007 0 0 0 0 2 0 0 0 0 27.3 209741 chr5 50056192 50056192 G T rs760123129 PARP8 Nonsynonymous SNV G114V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 209742 chr12 48133956 48133956 G A rs201845012 RAPGEF3 Nonsynonymous SNV R739W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 209743 chr3 111319710 111319710 C T rs200729689 CD96 Nonsynonymous SNV P346S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.5 209744 chr12 49087938 49087938 C G CCNT1 Nonsynonymous SNV E353D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.547 209745 chr1 196952046 196952046 T A rs201612591 CFHR5 Nonsynonymous SNV H30Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 209746 chr3 112997081 112997081 C A BOC Nonsynonymous SNV T561K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 209747 chr1 68960202 68960202 C T rs143889175 DEPDC1 Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 209748 chr1 70504264 70504264 T C rs146333507 LRRC7 Synonymous SNV S920S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209749 chr7 1027131 1027131 G A CYP2W1 Synonymous SNV A369A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.314 209750 chr1 74506951 74506951 T C rs767641238 LRRIQ3 Nonsynonymous SNV K555R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 209751 chr7 1484962 1484962 T C rs765450658 MICALL2 Synonymous SNV A248A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.078 209752 chr3 47908822 47908822 T C rs35736893 MAP4 Nonsynonymous SNV I994V 0 0.005 0 4 0 2 0.01 0 0 0 0 0 26.5 209753 chr7 1486380 1486380 C A rs148203938 MICALL2 Nonsynonymous SNV D204Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.4 209754 chr7 1542607 1542607 A G INTS1 Synonymous SNV A93A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.639 209755 chr12 51347787 51347787 T G rs796099674 HIGD1C Synonymous SNV S2S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.012 209756 chr1 78031770 78031770 C A ZZZ3 Nonsynonymous SNV D361Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 209757 chr3 19389360 19389360 T G rs576925691 KCNH8 Synonymous SNV T238T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.849 209758 chr3 48955853 48955853 G C rs772118004 ARIH2OS 0 0.005 0 1 0 2 0.003 0 0 0 0 0 7.572 209759 chr3 25675362 25675362 G A rs754180174 TOP2B Synonymous SNV I327I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 209760 chr3 49946479 49946479 G A rs755881696 MON1A Nonsynonymous SNV R481C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 35 209761 chr3 122044153 122044153 G C rs367941220 CSTA Nonsynonymous SNV G5A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 209762 chr10 99376480 99376480 T C rs776639939 MORN4 Nonsynonymous SNV M83V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 209763 chr1 203680025 203680025 G A rs200815867 ATP2B4 Nonsynonymous SNV R607Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.34 209764 chr3 38149100 38149100 C T rs777242958 DLEC1 Stop gain Q964X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 209765 chr9 138678270 138678270 G A KCNT1 Synonymous SNV Q1090Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.252 209766 chr3 125238990 125238990 C T rs546240450 SNX4 Synonymous SNV E9E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 209767 chr3 126741054 126741054 G T PLXNA1 Nonsynonymous SNV V1389L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 209768 chr1 94639619 94639619 G C rs915421442 ARHGAP29 Nonsynonymous SNV P1134A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 209769 chr3 43618646 43618646 A C ANO10 Nonsynonymous SNV L123V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 209770 chr12 56554066 56554066 C A MYL6 Nonsynonymous SNV A130E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.1 209771 chr3 45537795 45537795 G A rs116826217 LARS2 Nonsynonymous SNV D518N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 209772 chr12 57109961 57109961 G A rs111651575 NACA Nonsynonymous SNV P1785S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.86 209773 chr1 216173843 216173843 T C rs150282853 USH2A Synonymous SNV T2129T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 2.916 209774 chr3 97467461 97467461 T C rs767844480 EPHA6 Synonymous SNV I1103I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.6 209775 chr12 57396659 57396659 A G rs73334759 ZBTB39 Synonymous SNV G681G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.822 209776 chr1 109801312 109801312 C T rs1050252857 CELSR2 Nonsynonymous SNV P1190L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 209777 chr9 14789071 14789071 G C rs200716268 FREM1 Nonsynonymous SNV C1341W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 18.27 209778 chr12 57884125 57884125 G A rs141671963 MARS1 Nonsynonymous SNV S209N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 5.371 209779 chr1 110604142 110604142 C T rs150129126 ALX3 Nonsynonymous SNV R213H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 209780 chr9 17135068 17135068 C A CNTLN Nonsynonymous SNV A2E 0 0 0 2 0 0 0.005 0 0 0 0 0 27.4 209781 chr12 58120805 58120805 G A rs148957106 AGAP2 Synonymous SNV H740H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.424 209782 chr3 49736190 49736190 G A rs201247664 RNF123 Synonymous SNV A191A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.484 209783 chr6 109827621 109827621 A G rs982034283 AK9 Synonymous SNV F1586F 0 0 0 2 0 0 0.005 0 0 0 0 0 8.785 209784 chr11 1085797 1085797 C A rs375497962 MUC2 Nonsynonymous SNV N906K 0.005 0 0 0 6 0 0 0 0 0 0 0 24.3 209785 chr3 15529722 15529722 G A COLQ Synonymous SNV P104P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 209786 chr3 52505945 52505945 C T rs150124723 NISCH Synonymous SNV T175T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.18 209787 chr12 6936290 6936290 - G rs764762878 GPR162 Stop gain E282* 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 209788 chr12 6936297 6936297 T G rs201750723 GPR162 Synonymous SNV G281G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.06 209789 chr9 35853227 35853227 C T rs368964111 TMEM8B Synonymous SNV F352F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 209790 chr3 118942956 118942956 C A rs138943942 B4GALT4 Nonsynonymous SNV C208F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 209791 chr1 150525987 150525987 C T ADAMTSL4 Nonsynonymous SNV H174Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 209792 chr3 57302458 57302461 AGAG - rs766602418 APPL1 Stop gain R644* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 209793 chr1 151261938 151261938 C A rs374839503 ZNF687 Synonymous SNV P852P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 209794 chr3 64526829 64526829 G A rs772096259 ADAMTS9 Synonymous SNV A1793A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 209795 chr6 127469836 127469836 A G rs189015909 RSPO3 Synonymous SNV T47T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.816 209796 chr6 129704357 129704357 G T rs201632009 LAMA2 Stop gain E1684X 0 0 0 2 0 0 0.005 0 0 0 0 0 Pathogenic/Likely pathogenic 38 209797 chr11 119003845 119003845 A G rs34118252 HINFP Nonsynonymous SNV K146R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.6 209798 chr3 186358297 186358297 C G rs112267492 FETUB Nonsynonymous SNV C16W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.034 209799 chr3 186358315 186358315 C A rs76555921 FETUB Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.98 209800 chr3 186915426 186915426 G A rs138526316 RTP1 Synonymous SNV V41V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 209801 chr3 127318255 127318255 G A rs749193916 MCM2 Nonsynonymous SNV R34H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 209802 chr3 111705800 111705800 C T rs201252030 ABHD10 Nonsynonymous SNV H160Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 209803 chr3 130305487 130305487 C T rs371511195 COL6A6 Nonsynonymous SNV R1370W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 27.1 209804 chr7 92764290 92764290 - T rs773965929 SAMD9L Frameshift insertion I332Nfs*17 0 0 0 3 0 0 0.008 0 0 0 0 0 209805 chrX 100807928 100807928 G A rs142274849 ARMCX1 Synonymous SNV R5R 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 11.46 209806 chr3 27763515 27763515 T G rs529375594 EOMES Nonsynonymous SNV S91R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 16.54 209807 chr13 108861634 108861634 A G rs199638675 LIG4 Synonymous SNV D661D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 209808 chr13 108882520 108882520 C T rs201449571 ABHD13 Synonymous SNV V318V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.61 209809 chr11 128838850 128838850 G A rs116891747 ARHGAP32 Synonymous SNV P1723P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 9.835 209810 chr1 160260432 160260432 G A rs746436312 COPA Synonymous SNV A1164A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.903 209811 chr3 150280415 150280415 A G rs899924229 EIF2A Nonsynonymous SNV N62S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.942 209812 chr2 1497600 1497600 G A rs757274238 TPO Nonsynonymous SNV G426S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 209813 chr1 160593965 160593965 T A rs150911765 SLAMF1 Synonymous SNV P237P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.108 209814 chr11 134023042 134023042 C T rs200132835 NCAPD3 Nonsynonymous SNV D1323N 0.002 0 0 0 2 0 0 0 0 0 0 0 29 209815 chr3 39133154 39133154 C G WDR48 Synonymous SNV L487L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 209816 chr11 17111349 17111349 T C rs747576036 PIK3C2A Nonsynonymous SNV K1286R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.57 209817 chr1 169366494 169366494 G A rs144173743 CCDC181 Nonsynonymous SNV R451W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 209818 chr6 167352389 167352389 A G RNASET2 Nonsynonymous SNV L147P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.5 209819 chr3 137786441 137786441 T C DZIP1L Nonsynonymous SNV K645R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.273 209820 chr3 47286919 47286919 T C rs760631618 KIF9 Nonsynonymous SNV I458V 0 0 0.01 0 0 0 0 3 0 0 0 0 14.99 209821 chr11 2436411 2436411 G T rs201638929 TRPM5 Nonsynonymous SNV F473L 0.006 0 0 0 7 0 0 0 0 0 0 0 18.59 209822 chrX 45010945 45010945 G A rs371649095 DIPK2B Synonymous SNV S418S 0 0 0 2 0 0 0.005 0 0 0 0 1 5.756 209823 chr3 140785084 140785084 G A rs745383465 SPSB4 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.051 209824 chr3 48625825 48625825 G A rs191043504 COL7A1 Nonsynonymous SNV P867L 0 0 0.01 2 0 0 0.005 3 0 0 0 0 Likely benign 14.35 209825 chr1 179621293 179621293 G C TDRD5 Nonsynonymous SNV K262N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 209826 chr3 49459694 49459694 C T rs138259479 AMT Nonsynonymous SNV R34H 0 0 0.01 2 0 0 0.005 3 0 0 0 0 Benign 23.1 209827 chrX 63488698 63488698 A C rs143056366 MTMR8 Nonsynonymous SNV C612G 0 0 0 3 0 0 0.008 0 0 0 0 1 0.001 209828 chrX 69455938 69455938 G A AWAT1 Stop gain W68X 0 0 0 2 0 0 0.005 0 0 0 0 1 37 209829 chr3 186953745 186953745 C T rs373857008 MASP1 Synonymous SNV S638S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.12 209830 chr7 107114986 107114986 A C GPR22 Nonsynonymous SNV M161L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.473 209831 chrX 72433167 72433167 C A rs146885760 NAP1L2 Nonsynonymous SNV D388Y 0 0 0 2 0 0 0.005 0 0 0 0 1 25.7 209832 chr1 186056663 186056663 G A rs756117010 HMCN1 Synonymous SNV S3083S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.21 209833 chr3 52550419 52550419 G A rs368347598 STAB1 Nonsynonymous SNV G1398R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 209834 chr3 160149527 160149527 T G rs767706702 SMC4 Nonsynonymous SNV S1071A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 209835 chr3 52853517 52853517 G A rs774707268 ITIH4 Nonsynonymous SNV R627W 0 0 0.007 2 0 0 0.005 2 0 0 0 0 19.66 209836 chr10 101591888 101591888 C T rs200115373 ABCC2 Synonymous SNV G1086G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.702 209837 chr2 42994776 42994776 G A HAAO Synonymous SNV S247S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.716 209838 chr13 86368657 86368657 G A SLITRK6 Nonsynonymous SNV H663Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 209839 chr10 102768253 102768253 T C rs772312008 PDZD7 Nonsynonymous SNV K1025E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.003 209840 chr3 64085679 64085679 A G rs910890911 PRICKLE2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.06 209841 chr4 959311 959311 A G DGKQ Nonsynonymous SNV V529A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 17.2 209842 chr3 7620691 7620691 A G rs370085401 GRM7 Nonsynonymous SNV T700A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 209843 chr10 112541345 112541345 G A rs930912173 RBM20 Synonymous SNV S326S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.552 209844 chr3 186507947 186507947 - T RFC4 Frameshift insertion I327Nfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 209845 chr3 9057415 9057415 C T rs747627857 SRGAP3 Nonsynonymous SNV G536D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 209846 chr3 97660010 97660010 A G rs150948683 CRYBG3 Nonsynonymous SNV I2842V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 209847 chr10 115406696 115406696 C T NRAP Nonsynonymous SNV E327K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 209848 chr4 3519895 3519895 G A LRPAP1 Nonsynonymous SNV P206L 0.003 0.01 0 1 3 4 0.003 0 0 0 0 0 23.3 209849 chr4 5564783 5564783 C G rs773522883 EVC2 Nonsynonymous SNV S1160T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.06 209850 chr3 9877130 9877130 A G TTLL3 Nonsynonymous SNV D902G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 209851 chr1 207262911 207262911 C T rs146846149 C4BPB Nonsynonymous SNV A12V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.152 209852 chr10 120802207 120802207 T G EIF3A Nonsynonymous SNV D942A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 209853 chr1 208383673 208383673 G A rs142684842 PLXNA2 Synonymous SNV N441N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.211 209854 chr4 100522828 100522828 C T MTTP Nonsynonymous SNV T461I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 209855 chr3 196229810 196229810 T C rs144821850 RNF168 Nonsynonymous SNV I79V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209856 chr4 103500189 103500189 T C rs745756207 NFKB1 Synonymous SNV Y240Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.14 209857 chr10 124380630 124380630 G A rs199501579 DMBT1 Nonsynonymous SNV R1024Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 209858 chr14 20916095 20916095 G C rs987633582 OSGEP Nonsynonymous SNV S254C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 209859 chr4 8230350 8230350 G A rs528997423 SH3TC1 Nonsynonymous SNV V901M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.914 209860 chr4 1066729 1066729 G A rs199600360 RNF212 Nonsynonymous SNV T276M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 209861 chr4 672779 672779 C T rs772779589 MYL5 Synonymous SNV G48G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.58 209862 chr1 215848579 215848579 T C USH2A Nonsynonymous SNV Y4225C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 209863 chr4 113461145 113461145 A C rs142563855 ZGRF1 Nonsynonymous SNV F1958V 0 0 0.01 0 0 0 0 3 0 0 0 0 31 209864 chr4 1807537 1807537 C T rs146672976 FGFR3 Nonsynonymous SNV A457V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.8 209865 chr7 151817987 151817987 C A rs143156028 GALNT11 Synonymous SNV R462R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.16 209866 chr2 98920215 98920215 G A rs146673560 VWA3B Synonymous SNV A814A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.04 209867 chr3 99568394 99568394 T G rs199915987 FILIP1L Nonsynonymous SNV E469A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 19.91 209868 chr1 223992044 223992044 G A rs777840586 TP53BP2 Nonsynonymous SNV R161C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 209869 chr4 128851875 128851875 C T rs76506918 MFSD8 Nonsynonymous SNV V216I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.994 209870 chr4 13529782 13529782 G A rs114342797 LINC01097 0 0 0.003 0 0 0 0 1 0 0 0 0 6.349 209871 chr14 24730902 24730902 G A rs770687478 TGM1 Synonymous SNV I169I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 209872 chr8 2820054 2820054 C G rs768950845 CSMD1 Nonsynonymous SNV V3188L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 209873 chr4 15004754 15004754 T G rs1030935244 CPEB2 Nonsynonymous SNV S153A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.89 209874 chr1 228399671 228399671 G A rs117484136 OBSCN Nonsynonymous SNV D63N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 209875 chr1 228407285 228407285 C T rs61537173 OBSCN Nonsynonymous SNV R972C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 209876 chr10 15107664 15107664 - C rs774581354 OLAH Frameshift insertion K164Qfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 209877 chr10 15255919 15255919 C G FAM171A1 Synonymous SNV R556R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.495 209878 chr2 114500357 114500357 G A rs764882352 SLC35F5 Nonsynonymous SNV P215L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 209879 chr10 21785708 21785708 C T rs138673157 MIR1915HG 0 0 0 2 0 0 0.005 0 0 0 0 0 22.4 209880 chr4 55561694 55561694 T C rs758868843 KIT Synonymous SNV S28S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 8.021 209881 chr4 56436019 56436019 C T rs187301675 PDCL2 Synonymous SNV R76R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.63 209882 chr10 24833389 24833389 G A rs144231647 KIAA1217 Synonymous SNV S1730S 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 7.168 209883 chr1 235338600 235338600 G A rs140515034 ARID4B Nonsynonymous SNV T1102M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 209884 chr1 235969981 235969981 C T rs141083628 LYST Nonsynonymous SNV A819T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 209885 chr14 55621357 55621357 A T rs142873440 DLGAP5 Nonsynonymous SNV F681I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.346 209886 chr10 30315385 30315385 T C rs373815812 JCAD Nonsynonymous SNV K1231R 0 0 0 4 0 0 0.01 0 0 0 0 0 25.5 209887 chr4 71472427 71472427 T C rs764712520 AMBN Nonsynonymous SNV W442R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 21.9 209888 chr4 178357435 178357435 T G AGA Synonymous SNV I231I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 209889 chr2 144765026 144765026 T C rs112305340 GTDC1 Nonsynonymous SNV M200V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.002 209890 chr1 241798683 241798683 T C rs780156066 CHML Nonsynonymous SNV N129S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 209891 chr8 23012437 23012437 A G rs137870102 TNFRSF10D Nonsynonymous SNV V69A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.002 209892 chr10 46121978 46121978 A G ZFAND4 Synonymous SNV A431A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.359 209893 chr4 47565619 47565619 G A rs746857968 ATP10D Nonsynonymous SNV R897H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 209894 chr10 48382062 48382062 C T rs558333123 RBP3 Nonsynonymous SNV R1196H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 26.2 209895 chr4 54362546 54362546 T C LNX1 Nonsynonymous SNV I236V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 209896 chr8 30704706 30704706 G A rs751632620 TEX15 Nonsynonymous SNV P993S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 209897 chr4 2952712 2952712 G A NOP14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.397 209898 chr3 138347960 138347960 A G rs765690833 FAIM Nonsynonymous SNV M118V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 209899 chr4 3590811 3590811 C T LINC00955 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 209900 chr14 74824378 74824378 C T rs145081542 VRTN Nonsynonymous SNV R298C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 209901 chr10 50954910 50954910 C A OGDHL Synonymous SNV L185L 0 0 0 2 0 0 0.005 0 0 0 0 0 17.49 209902 chr7 100550651 100550651 - AAG MUC3A V411_T412insS 0 0 0 1 0 0 0.003 0 0 0 0 0 209903 chr4 100867627 100867627 G C rs377579929 DNAJB14 Nonsynonymous SNV R25G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.73 209904 chr4 71471907 71471907 G A rs907670611 AMBN Synonymous SNV G268G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 209905 chr1 248685427 248685427 C A OR2G6 Stop gain C160X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 209906 chr4 106345379 106345379 T C rs998720571 PPA2 Nonsynonymous SNV N108S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.5 209907 chr8 54923043 54923043 A G rs772928441 TCEA1 Synonymous SNV L25L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.498 209908 chr14 77705773 77705773 T C rs116434167 TMEM63C Synonymous SNV S248S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.235 209909 chr14 77843920 77843920 A G rs61729313 SAMD15 Synonymous SNV Q53Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.008 209910 chr14 77950739 77950739 G C rs137918194 ISM2 Nonsynonymous SNV P185R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.11 209911 chr8 67576952 67576952 G A rs148659159 VCPIP1 Nonsynonymous SNV P748S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.03 209912 chr4 77996628 77996642 CTCCTCCTCTTCCTC - rs4252764 CCNI E19_E23del 0.001 0 0 0 1 0 0 0 0 0 0 0 209913 chr10 64573470 64573470 - GGC rs753747037 EGR2 A309_Y310insA 0 0 0 2 0 0 0.005 0 0 0 0 0 209914 chr14 90784358 90784358 G A rs137945038 NRDE2 Nonsynonymous SNV P55L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 209915 chr2 179598384 179598384 A C TTN Nonsynonymous SNV N4000K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.24 209916 chr4 121631569 121631569 C G PRDM5 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.1 209917 chr4 533031 533031 G A rs755336453 PIGG Nonsynonymous SNV R809H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 209918 chr10 70968607 70968607 C T rs187579657 SUPV3L1 Nonsynonymous SNV P397L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.056 209919 chr7 101924122 101924122 G C CUX1 Nonsynonymous SNV L581F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 209920 chr8 95952125 95952125 G A rs143018046 TP53INP1 Nonsynonymous SNV R146C 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 209921 chr10 72289042 72289042 G A rs61742183 PALD1 Synonymous SNV T81T 0 0 0 4 0 0 0.01 0 0 0 0 0 11.27 209922 chr4 57797337 57797337 G A REST Synonymous SNV V771V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.442 209923 chr4 99055502 99055502 G A rs145017770 STPG2 Nonsynonymous SNV A73V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.14 209924 chr4 6302689 6302689 T G rs201282601 WFS1 Nonsynonymous SNV D389E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 209925 chr4 6606922 6606922 G A rs79274555 MAN2B2 Synonymous SNV A509A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 209926 chr4 68374575 68374575 C T CENPC Nonsynonymous SNV D621N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.389 209927 chr10 79603402 79603402 C T DLG5 Synonymous SNV K309K 0 0 0 3 0 0 0.008 0 0 0 0 0 13.9 209928 chr2 200684481 200684481 C T rs966069544 FTCDNL1 0 0.003 0 0 0 1 0 0 0 0 0 0 16.77 209929 chr4 7435106 7435106 C T rs748430817 PSAPL1 Nonsynonymous SNV A501T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.489 209930 chr4 169294885 169294885 T C rs760664630 DDX60L Nonsynonymous SNV I1570V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 209931 chr4 76861175 76861175 T C rs746868939 NAAA Nonsynonymous SNV N117S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 209932 chr2 203003207 203003207 G A rs138546094 KIAA2012 Synonymous SNV P628P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.371 209933 chr4 119948504 119948504 C G rs141002177 SYNPO2 Nonsynonymous SNV A327G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 209934 chr2 33747057 33747057 G A RASGRP3 Nonsynonymous SNV R135K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 209935 chr2 208993053 208993053 G C rs780599510 CRYGC Synonymous SNV L133L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.461 209936 chr7 128489475 128489475 C G rs193159707 FLNC Nonsynonymous SNV T1681R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 20.1 209937 chr7 129962500 129962500 G T rs200631467 CPA4 Nonsynonymous SNV R384L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.905 209938 chr7 130418146 130418146 A G KLF14 Nonsynonymous SNV S239P 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 209939 chr11 67799622 67799622 C T rs150278938 NDUFS8 Nonsynonymous SNV R2C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 209940 chr4 186382219 186382219 C T rs186692677 CCDC110 Nonsynonymous SNV R111H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.471 209941 chr4 85617917 85617917 C T WDFY3 Nonsynonymous SNV D2886N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 209942 chr8 143599595 143599595 G A rs377716870 ADGRB1 Nonsynonymous SNV V972M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 209943 chr15 40574583 40574583 G A rs146670152 ANKRD63 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.182 209944 chr15 40898604 40898604 C T rs200234622 KNL1 Nonsynonymous SNV P30L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.5 209945 chr2 219143279 219143279 G A rs769375632 TMBIM1 Synonymous SNV F33F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.73 209946 chr4 152571291 152571291 G A rs939193258 FAM160A1 Nonsynonymous SNV D700N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.768 209947 chr4 152571293 152571293 C A rs987966560 FAM160A1 Nonsynonymous SNV D700E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 209948 chr4 154523375 154523375 A G rs367657558 TMEM131L Nonsynonymous SNV I780V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.933 209949 chr4 155158175 155158175 G T rs141912971 DCHS2 Nonsynonymous SNV N2543K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 209950 chr4 983376 983376 G A rs868322513 SLC26A1 Nonsynonymous SNV R451W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 209951 chr2 63826390 63826390 C T rs370041076 MDH1 Synonymous SNV C65C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 209952 chr2 64327624 64327624 T C PELI1 Nonsynonymous SNV N71D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 209953 chr4 158257778 158257778 G C rs145573036 GRIA2 Nonsynonymous SNV E575Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 209954 chr5 109756401 109756401 T C rs767065021 TMEM232 Synonymous SNV E618E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 209955 chr7 143701475 143701475 C G rs753752940 OR6B1 Nonsynonymous SNV P129R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 209956 chr11 101762253 101762253 A G ANGPTL5 Synonymous SNV D308D 0 0 0 2 0 0 0.005 0 0 0 0 0 4.039 209957 chr2 71206370 71206370 C G rs35096506 ANKRD53 Nonsynonymous SNV A105G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.793 209958 chr8 145060408 145060408 C A rs73715599 PARP10 Nonsynonymous SNV R11L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.926 209959 chr2 71220864 71220864 T C rs151285112 TEX261 Nonsynonymous SNV T38A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 209960 chr2 72362439 72362439 T C rs201603348 CYP26B1 Nonsynonymous SNV N105S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.872 209961 chr5 38904082 38904082 T C rs35117676 OSMR Nonsynonymous SNV Y364H 0.001 0.008 0.014 2 1 3 0.005 4 0 0 0 0 Benign 11.15 209962 chr2 233393651 233393651 T A CHRND Nonsynonymous SNV W182R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.78 209963 chr4 187118221 187118221 A C CYP4V2 Nonsynonymous SNV I181L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.594 209964 chr9 1053761 1053761 C T rs201585505 DMRT2 Nonsynonymous SNV R15C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 209965 chr4 187540982 187540982 C T FAT1 Nonsynonymous SNV S2253N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.642 209966 chr9 2651473 2651473 A G rs147263784 VLDLR Synonymous SNV S729S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.14 209967 chr7 1525086 1525086 G A rs372589403 INTS1 Nonsynonymous SNV S999L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.75 209968 chr2 237489507 237489507 C T ACKR3 Synonymous SNV F133F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.41 209969 chr5 13876885 13876885 G T rs774143246 DNAH5 Nonsynonymous SNV Q1102K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 11.9 209970 chr2 98994191 98994191 C T rs62156348 CNGA3 Nonsynonymous SNV P48L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.47 209971 chr7 158935143 158935143 T C rs943387144 VIPR2 Nonsynonymous SNV H49R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 209972 chr11 109964150 109964150 G C rs768813122 ZC3H12C Nonsynonymous SNV G5R 0 0 0 2 0 0 0.005 0 0 0 0 0 21.3 209973 chr9 15211353 15211353 - ATGGTACTGTAGCCCAAGGC TTC39B Frameshift insertion I106Mfs*15 0 0.003 0 2 0 1 0.005 0 0 0 0 0 209974 chr5 140530215 140530215 A G PCDHB6 Nonsynonymous SNV N126S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 209975 chr11 93416752 93416752 A G rs200093269 CEP295 Nonsynonymous SNV K265E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 209976 chr15 71341831 71341831 G A rs146175484 LRRC49 Synonymous SNV E652E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.26 209977 chr5 140719331 140719331 A G rs138877576 PCDHGA2 Nonsynonymous SNV T265A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.91 209978 chr2 241976259 241976259 C T rs533429390 SNED1 Synonymous SNV D286D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.84 209979 chr2 109086134 109086134 C T rs368534626 GCC2 Nonsynonymous SNV H117Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.073 209980 chr9 32481374 32481374 A C rs778379554 DDX58 Nonsynonymous SNV I534M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 209981 chr2 109746377 109746377 G C rs369119361 SH3RF3 Synonymous SNV A127A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 209982 chr11 9871707 9871707 C T rs755699993 SBF2 Nonsynonymous SNV R890Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 209983 chr5 141049343 141049343 C T rs142810884 ARAP3 Nonsynonymous SNV G762E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 209984 chr2 242556826 242556826 C T rs954205959 THAP4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.78 209985 chr5 141248589 141248589 G A rs752233787 PCDH1 Nonsynonymous SNV R166W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 209986 chr5 32403341 32403341 T C rs765486856 ZFR Synonymous SNV A462A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.093 209987 chr9 36169538 36169538 C G CCIN Nonsynonymous SNV F13L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.116 209988 chr3 9482181 9482181 T G rs201728851 SETD5 Synonymous SNV T203T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.906 209989 chr5 150029501 150029501 T C rs202224903 SYNPO Nonsynonymous SNV L555P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 209990 chr5 150036505 150036505 G A rs200576413 SYNPO Synonymous SNV T856T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 18.7 209991 chr15 83657823 83657823 G T RAMAC Nonsynonymous SNV R18I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.4 209992 chr11 123900409 123900409 G A rs771502874 OR10G8 Nonsynonymous SNV G27E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.385 209993 chr7 4172002 4172002 C T rs373337374 SDK1 Nonsynonymous SNV T1392I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.3 209994 chr5 150935904 150935904 C A rs201392715 FAT2 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 209995 chr11 124743208 124743208 G A rs748933979 ROBO3 Synonymous SNV E513E 0 0.003 0 3 0 1 0.008 0 0 0 0 0 9.3 209996 chr11 124765039 124765039 C G rs763185095 ROBO4 Nonsynonymous SNV V218L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.5 209997 chr9 88651341 88651341 C T rs141860390 GOLM1 Nonsynonymous SNV V227M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.043 209998 chr5 157170906 157170906 G T rs770922032 LSM11 Nonsynonymous SNV A50S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 209999 chr11 125875658 125875658 C T rs144938780 CDON Nonsynonymous SNV R616Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 35 210000 chr2 159523005 159523005 T C PKP4 Synonymous SNV D886D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.992 210001 chr12 117187936 117187963 CCCTGCTGCAGCACGTGGGTGGGGACCA - rs779227298 RNFT2 L126Gfs*22 0.002 0 0 0 2 0 0 0 0 0 0 0 210002 chr12 117595882 117595882 C G rs763653790 FBXO21 Nonsynonymous SNV C445S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.31 210003 chr2 160206534 160206534 C T rs148153390 BAZ2B Synonymous SNV T1480T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.803 210004 chr5 70945945 70945945 G A rs148773718 MCCC2 Nonsynonymous SNV G437R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 210005 chr2 160261531 160261531 A G rs576728835 BAZ2B 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 210006 chr2 160269024 160269024 A G rs756433979 BAZ2B Synonymous SNV D797D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.581 210007 chr2 160289359 160289359 A C rs575200626 BAZ2B Nonsynonymous SNV D540E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 210008 chr2 162061198 162061198 G T rs187514019 TANK Nonsynonymous SNV G74V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.31 210009 chr2 162360324 162360324 T C rs900218038 AHCTF1P1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.135 210010 chr15 91422068 91422068 C T rs146201375 FURIN Synonymous SNV C305C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 210011 chr5 75858246 75858246 G A rs565295016 IQGAP2 Nonsynonymous SNV E8K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 210012 chr5 75906923 75906923 C A rs3822530 IQGAP2 Nonsynonymous SNV P32H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.6 210013 chr15 93522377 93522377 C T CHD2 Nonsynonymous SNV R914C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 210014 chr3 41952824 41952824 G T rs370525165 ULK4 Nonsynonymous SNV S55Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 210015 chr12 123497210 123497210 T G PITPNM2 Nonsynonymous SNV N122T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 210016 chr12 123497211 123497211 T G PITPNM2 Nonsynonymous SNV N122H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 210017 chr12 123497212 123497212 T G PITPNM2 Nonsynonymous SNV E121D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 210018 chr3 42917041 42917041 G A CYP8B1 Nonsynonymous SNV L90F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 210019 chr4 104006609 104006609 G C rs771922974 BDH2 Nonsynonymous SNV N143K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 210020 chr12 124856588 124856588 G A rs762853215 NCOR2 Synonymous SNV A911A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.124 210021 chr2 171638840 171638840 A G rs202151563 ERICH2 Nonsynonymous SNV D270G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.708 210022 chr7 75614925 75614925 C T rs782156085 POR Nonsynonymous SNV A476V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.58 210023 chr5 19473425 19473425 G C rs762154267 CDH18 Nonsynonymous SNV D761E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.014 210024 chr5 140236075 140236075 G C rs781922775 PCDHA10 Nonsynonymous SNV D148H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.6 210025 chr16 17232390 17232390 - GCAGGGGAGAGAGGGACCCAGCCTGA rs545474455 LOC102723692, XYLT1 0.001 0 0 0 1 0 0 0 0 0 0 0 210026 chr3 47957516 47957516 T C rs757302639 MAP4 Nonsynonymous SNV I601V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.153 210027 chr5 52376433 52376433 T G rs55980302 ITGA2 Synonymous SNV T1007T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.44 210028 chr11 32624491 32624491 C T rs772094086 CCDC73 Nonsynonymous SNV G1036S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.49 210029 chr3 49568679 49568679 G A rs748164001 DAG1 Synonymous SNV P245P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 8.346 210030 chr3 49831086 49831086 A G rs949291183 CDHR4 Nonsynonymous SNV I518T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.05 210031 chr7 99725330 99725330 G A rs374694637 MBLAC1 Synonymous SNV P104P 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 7.111 210032 chr8 100155382 100155382 G A rs61754109 VPS13B Nonsynonymous SNV R611K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.647 210033 chr3 51101969 51101969 C G rs764307212 DOCK3 Nonsynonymous SNV Q136E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.8 210034 chr2 187370262 187370262 G A rs140763694 ZC3H15 Nonsynonymous SNV D268N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 210035 chr3 52258319 52258319 G A rs5743842 TLR9 Nonsynonymous SNV R5C 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 1.436 210036 chr5 64050185 64050185 G A rs762424824 SREK1IP1 Synonymous SNV C6C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 210037 chr3 52403885 52403885 A C rs61753436 DNAH1 Synonymous SNV S1996S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 Benign 0.012 210038 chr2 196548472 196548472 C T SLC39A10 Nonsynonymous SNV S353F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 210039 chr5 148748023 148748023 C A rs142120062 PCYOX1L Nonsynonymous SNV R414S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 19.21 210040 chr2 196771429 196771429 A G rs749211272 DNAH7 Nonsynonymous SNV M1430T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 210041 chr5 137518304 137518304 C T rs771130761 KIF20A Nonsynonymous SNV R182W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 210042 chr11 46394543 46394543 C T rs749956393 DGKZ Synonymous SNV L383L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 14.47 210043 chr5 138728472 138728472 G T PROB1 Nonsynonymous SNV R767S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 210044 chr12 402108 402108 T C KDM5A Synonymous SNV R1561R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.832 210045 chr3 67053886 67053886 G A rs149917487 KBTBD8 Synonymous SNV Q165Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.362 210046 chr5 140562927 140562927 T C PCDHB16 Nonsynonymous SNV S265P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 210047 chr5 140588718 140588718 A G rs782343583 PCDHB12 Nonsynonymous SNV N80S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 210048 chr2 207827211 207827211 C T rs752037970 CPO Nonsynonymous SNV A217V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 210049 chr12 4853706 4853706 G A rs16931676 GALNT8 Nonsynonymous SNV E234K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.1 210050 chr5 140794930 140794930 C T rs62378454 PCDHGA10 Stop gain Q730X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 36 210051 chr12 49424714 49424714 C A rs753655111 KMT2D Nonsynonymous SNV V4545F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.97 210052 chr2 213921714 213921714 G A rs142978781 IKZF2 Synonymous SNV P83P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.247 210053 chr12 49959981 49959981 C T rs769106306 MCRS1 Nonsynonymous SNV D23N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 210054 chr5 169697818 169697818 G A rs375649336 LCP2 Nonsynonymous SNV A143V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23 210055 chr5 172110864 172110864 C A rs751634198 NEURL1B Nonsynonymous SNV F158L 0 0.008 0 1 0 3 0.003 0 0 0 0 0 24 210056 chr9 139700543 139700543 G A rs763168465 CCDC183 Nonsynonymous SNV R321H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 28.3 210057 chr5 148712281 148712281 G A AFAP1L1 Nonsynonymous SNV E634K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 210058 chr2 220349156 220349156 T A rs201170917 SPEG Nonsynonymous SNV I2324N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.5 210059 chr9 140100344 140100344 G A NDOR1 Nonsynonymous SNV A39T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.7 210060 chr12 52779057 52779057 G C KRT84 Nonsynonymous SNV L105V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.727 210061 chr6 111695367 111695367 G A rs772865359 REV3L Synonymous SNV I1397I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 4.839 210062 chr2 220397618 220397618 C T rs761349318 ASIC4 Synonymous SNV I471I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 210063 chr16 54319785 54319785 G A IRX3 Nonsynonymous SNV P60S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 210064 chr8 144590069 144590069 G A rs201711751 ZC3H3 Nonsynonymous SNV A521V 0.001 0 0 5 1 0 0.013 0 0 0 0 0 10.64 210065 chr5 180053236 180053236 C T rs200763913 FLT4 Nonsynonymous SNV R378H 0.002 0.01 0 5 2 4 0.013 0 0 0 0 0 24.4 210066 chr5 180219579 180219579 C T rs371286970 MGAT1 Synonymous SNV S131S 0 0.008 0 1 0 3 0.003 0 0 0 0 0 9.819 210067 chr2 222429002 222429002 C T rs750966838 EPHA4 Nonsynonymous SNV R40Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 210068 chr5 154282691 154282691 G T rs762503008 GEMIN5 Nonsynonymous SNV L892M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 210069 chr2 225662654 225662654 T A rs16866185 DOCK10 Synonymous SNV S1507S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.22 210070 chr3 121591595 121591595 T C rs148765156 EAF2 Synonymous SNV N102N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 1.517 210071 chr5 156890275 156890275 G A rs371755190 NIPAL4 Nonsynonymous SNV G133S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 210072 chr5 156918696 156918696 C T rs139027135 ADAM19 Synonymous SNV P674P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 210073 chr12 53702581 53702581 C G rs140920186 AAAS Nonsynonymous SNV D306H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.4 210074 chr6 132891776 132891776 A G rs772777745 TAAR6 Nonsynonymous SNV T106A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.4 210075 chr6 136935358 136935358 C T rs775867053 MAP3K5 Synonymous SNV Q739Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 210076 chr5 173380197 173380197 G A rs146213887 CPEB4 Synonymous SNV A603A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.41 210077 chr5 175811081 175811081 C T rs776470859 NOP16 Synonymous SNV P200P 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 11.62 210078 chr12 56297254 56297254 G A rs761023631 PYM1 Synonymous SNV I15I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.52 210079 chr11 55541521 55541521 T A rs201933246 OR5D13 Nonsynonymous SNV I203N 0.002 0 0 3 2 0 0.008 0 0 0 0 0 20.5 210080 chr12 56717821 56717821 C T PAN2 Nonsynonymous SNV D693N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.864 210081 chr6 21201472 21201472 G A rs148300738 CDKAL1 Synonymous SNV P505P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.03 210082 chr16 69370471 69370471 G A rs375227294 COG8 Synonymous SNV A174A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.04 210083 chr3 127398955 127398955 G A rs73203006 ABTB1 Nonsynonymous SNV R244H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 26.6 210084 chr12 57652679 57652679 G A rs201558434 R3HDM2 Synonymous SNV S733S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.37 210085 chr5 178460241 178460241 A G rs527743804 ZNF879 Nonsynonymous SNV N431S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.7 210086 chr16 712020 712020 C T rs200400782 WDR90 Nonsynonymous SNV R1332C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.3 210087 chr6 26234665 26234665 G A rs144980125 H1-3 Nonsynonymous SNV A166V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.78 210088 chr6 26388372 26388372 G A rs144410497 BTN2A2 Nonsynonymous SNV A76T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.548 210089 chr3 130287166 130287166 T A COL6A6 Nonsynonymous SNV F707I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 210090 chr2 241463326 241463326 C T rs373595407 ANKMY1 Nonsynonymous SNV R284Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 210091 chr6 656642 656642 C T rs747556100 HUS1B Synonymous SNV K101K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.21 210092 chr12 66742975 66742975 T C rs746870204 GRIP1 Nonsynonymous SNV I1004V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 210093 chr6 656891 656891 G A rs201555162 HUS1B Synonymous SNV H18H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.891 210094 chr16 75148032 75148032 G A LDHD Nonsynonymous SNV L244F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 210095 chr6 159210342 159210342 G T rs760683115 EZR Nonsynonymous SNV T25N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 210096 chr16 75148821 75148821 G A LDHD Synonymous SNV L125L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.873 210097 chr16 75590123 75590123 G T rs749234584 TMEM231 Nonsynonymous SNV A16D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.09 210098 chr6 5085990 5085990 C T rs1036382930 PPP1R3G Nonsynonymous SNV P91S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 210099 chr6 6167735 6167735 T C rs141416839 F13A1 Nonsynonymous SNV K622E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.002 210100 chr6 36196750 36196750 C T rs200492602 BRPF3 Synonymous SNV D1117D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.75 210101 chr12 71972698 71972698 T C rs776281947 LGR5 Synonymous SNV F441F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.425 210102 chr6 12121493 12121493 G A rs199639832 HIVEP1 Nonsynonymous SNV V489I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.32 210103 chr6 38877453 38877453 C A rs138703233 DNAH8 Nonsynonymous SNV Q3008K 0.001 0.01 0.003 1 1 4 0.003 1 0 0 0 0 Likely benign 21.2 210104 chr16 814069 814069 G A rs138335766 MSLN Nonsynonymous SNV G76S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.332 210105 chr6 39893558 39893558 C T rs145146059 MOCS1 Synonymous SNV P7P 0.003 0.008 0.003 1 3 3 0.003 1 0 0 0 0 Uncertain significance 12.99 210106 chr6 170036572 170036572 T A rs182986174 WDR27 Nonsynonymous SNV Q442L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.258 210107 chr3 9798475 9798475 G A rs113561019 OGG1 Nonsynonymous SNV G197E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 210108 chr12 8612225 8612225 A C rs796098130 CLEC6A Nonsynonymous SNV K22Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.159 210109 chr3 164709997 164709997 C T rs139876383 SI Nonsynonymous SNV V1651I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 18.65 210110 chr10 64429997 64429997 A G rs74156089 ZNF365 Nonsynonymous SNV E196G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.67 210111 chr16 85701898 85701898 C G rs766679176 GSE1 Nonsynonymous SNV Q991E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.904 210112 chr10 69881441 69881441 C T MYPN Synonymous SNV A82A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.78 210113 chr3 171571357 171571357 G A rs773867664 TMEM212 Nonsynonymous SNV G87E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.85 210114 chr16 8844347 8844347 C T rs199666932 ABAT Synonymous SNV D89D 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign/Likely benign 16.06 210115 chr3 172486803 172486803 C T ECT2 Nonsynonymous SNV P373L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 210116 chr6 28135159 28135160 AT - rs148257955 ZNF192P1 0 0 0.007 0 0 0 0 2 0 0 0 0 210117 chr12 97136336 97136336 A G rs114505305 CFAP54 Synonymous SNV A2397A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.585 210118 chr3 20027125 20027125 G A rs565016289 PP2D1 Nonsynonymous SNV P547L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.309 210119 chr3 183017889 183017889 C T rs147469829 MCF2L2 Synonymous SNV V403V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.51 210120 chr10 71880872 71880872 C T rs765850859 AIFM2 Synonymous SNV Q130Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 210121 chr11 5989123 5989123 T A rs541837280 OR56A5 Nonsynonymous SNV Y201F 0 0 0 1 0 0 0.003 0 0 0 0 0 5.288 210122 chr11 60541396 60541396 C T rs201061468 MS4A15 Synonymous SNV C154C 0.004 0 0 3 5 0 0.008 0 0 0 0 0 10.3 210123 chr6 52998936 52998936 C T rs150847762 GCM1 Nonsynonymous SNV A88T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.145 210124 chr11 60703734 60703734 C A rs150840044 TMEM132A Synonymous SNV G810G 0.004 0 0 3 5 0 0.008 0 0 0 0 0 11.21 210125 chr11 60703876 60703876 T C rs142571833 TMEM132A Nonsynonymous SNV F858L 0.004 0 0 3 5 0 0.008 0 0 0 0 0 26.1 210126 chr3 185155326 185155326 G A rs199761257 MAP3K13 Synonymous SNV A189A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.3 210127 chr3 185183541 185183541 G A rs56098590 MAP3K13 Synonymous SNV A258A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 13.47 210128 chr10 75413196 75413196 C T rs200006608 SYNPO2L Nonsynonymous SNV R158H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.4 210129 chr13 110436297 110436299 CGG - rs770454447 IRS2 A701del 0.002 0 0 0 2 0 0 0 0 0 0 0 210130 chr16 89293921 89293921 A C ZNF778 Nonsynonymous SNV N381H 0.001 0 0 0 1 0 0 0 0 0 0 0 21 210131 chr10 75871744 75871744 C G VCL Synonymous SNV V941V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.16 210132 chr10 75871745 75871745 C T VCL Nonsynonymous SNV P942S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 210133 chr6 37614135 37614135 G A rs145146911 MDGA1 Nonsynonymous SNV A688V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 210134 chr6 38142775 38142775 G A rs745305623 BTBD9 Nonsynonymous SNV R541W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 210135 chr6 38899691 38899691 G A rs112903128 DNAH8 Synonymous SNV T3576T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.236 210136 chr17 10427805 10427805 C T rs755776701 MYH2 Nonsynonymous SNV R1718H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 210137 chr6 41303863 41303863 G A rs35710973 NCR2 Nonsynonymous SNV V31M 0 0 0.01 0 0 0 0 3 0 0 0 0 0.308 210138 chr13 114277574 114277574 G C rs151229785 TFDP1 Nonsynonymous SNV Q53H 0.002 0 0 0 2 0 0 0 0 0 0 0 19.08 210139 chr17 11543627 11543627 C T rs764472318 DNAH9 Synonymous SNV G609G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.23 210140 chr3 40553959 40553959 A T ZNF620 Nonsynonymous SNV D73V 0.003 0 0 0 3 0 0 0 0 0 0 0 22 210141 chr6 42713578 42713578 C T rs766366209 TBCC Synonymous SNV A78A 0 0 0.01 0 0 0 0 3 0 0 0 0 9.402 210142 chr8 99215336 99215336 C G NIPAL2 Nonsynonymous SNV G294R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 210143 chr9 100616700 100616700 - GCC rs562189970 FOXE1 A179_I180insA 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 210144 chr10 95123803 95123803 G A rs142449029 MYOF Nonsynonymous SNV T915M 0.003 0 0 4 3 0 0.01 0 0 0 0 0 23 210145 chr6 90385210 90385210 G A rs779192899 MDN1 Nonsynonymous SNV T4245M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.21 210146 chr6 44250108 44250108 C T TCTE1 Synonymous SNV Q345Q 0 0 0.007 0 0 0 0 2 0 0 0 0 9.136 210147 chr10 96012159 96012159 C T rs367640320 PLCE1 Synonymous SNV P753P 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.56 210148 chr6 46659721 46659721 G T rs140946248 TDRD6 Nonsynonymous SNV D1286Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.577 210149 chr11 64940167 64940167 G A SPDYC Nonsynonymous SNV E177K 0 0 0 3 0 0 0.008 0 0 0 0 0 24.1 210150 chr3 47453665 47453665 C G rs145347025 PTPN23 Nonsynonymous SNV H1259Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.12 210151 chr6 55925783 55925783 T A rs76146749 COL21A1 Nonsynonymous SNV E151V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.5 210152 chr3 47891117 47891117 T C rs141645399 MIR1226 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.722 210153 chr11 65307294 65307294 G A LTBP3 Synonymous SNV C984C 0 0 0 3 0 0 0.008 0 0 0 0 0 3.202 210154 chr17 18923124 18923124 G A rs61224181 SLC5A10 Synonymous SNV T476T 0.003 0 0 0 4 0 0 0 0 0 0 0 7.834 210155 chr6 52876661 52876661 A G ICK Synonymous SNV S466S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.269 210156 chr17 19458972 19458972 C T rs16960203 SLC47A1 Synonymous SNV L236L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.77 210157 chr3 48464979 48464979 C T rs146898727 PLXNB1 Nonsynonymous SNV E348K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.53 210158 chr6 110434627 110434627 T C rs141069208 WASF1 Nonsynonymous SNV N57S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.1 210159 chr11 65547046 65547046 T C AP5B1 Synonymous SNV A306A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.36 210160 chr3 49294604 49294604 C T CCDC36 Synonymous SNV S558S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 210161 chr3 49548060 49548060 G T rs146339759 DAG1 Nonsynonymous SNV W31C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.4 210162 chr6 56918076 56918076 A G rs199923358 KIAA1586 Nonsynonymous SNV N233S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 210163 chr6 56966567 56966567 G A rs771786576 ZNF451 Nonsynonymous SNV M451I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 210164 chr11 65631349 65631349 G T rs776591483 MUS81 Nonsynonymous SNV D347Y 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 210165 chr6 64404605 64404605 G A rs149864298 PHF3 Synonymous SNV P789P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 210166 chr10 103901075 103901075 T G rs145091275 PPRC1 Nonsynonymous SNV L937R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 22.9 210167 chr3 49940079 49940079 G A rs778931500 MST1R Nonsynonymous SNV R322W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 210168 chr10 104184420 104184420 G A rs369016562 CUEDC2 Synonymous SNV F68F 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.85 210169 chr11 65687870 65687870 C T DRAP1 Nonsynonymous SNV S89F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 210170 chr4 5664930 5664930 G A rs369748879 EVC2 Nonsynonymous SNV S270L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.041 210171 chr11 65745305 65745305 G A rs201995541 SART1 Nonsynonymous SNV G703S 0 0 0 3 0 0 0.008 0 0 0 0 0 12.03 210172 chr10 105152156 105152156 T C rs140938014 ATP5MD Nonsynonymous SNV N20S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 210173 chr5 150887018 150887018 G T FAT2 Nonsynonymous SNV R4072S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.2 210174 chr6 74115459 74115459 C T rs199587072 DDX43 Synonymous SNV I236I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.218 210175 chr6 126243929 126243929 G A rs201421562 NCOA7 Synonymous SNV S101S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.75 210176 chr6 83775431 83775431 C A rs980918699 UBE3D Nonsynonymous SNV A3S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.846 210177 chr3 52535713 52535713 G A rs775153736 STAB1 Nonsynonymous SNV R92Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.94 210178 chr6 75823001 75823001 G T rs201337277 COL12A1 Nonsynonymous SNV N1459K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 210179 chr11 67017730 67017730 T G rs370484414 KDM2A Synonymous SNV A304A 0 0 0 3 0 0 0.008 0 0 0 0 0 7.292 210180 chr3 52878907 52878907 C T rs149340087 STIMATE, STIMATE-MUSTN1 Nonsynonymous SNV V160M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 210181 chr17 27030690 27030690 C T rs186007908 PROCA1 Synonymous SNV S183S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 210182 chr6 134350279 134350279 T C rs140804762 SLC2A12 Synonymous SNV G228G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.027 210183 chr6 90660217 90660217 T G BACH2 Synonymous SNV S536S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.565 210184 chr11 68475874 68475874 T C rs760570548 TESMIN Nonsynonymous SNV K477E 0 0 0 3 0 0 0.008 0 0 0 0 0 0.001 210185 chr6 90449988 90449988 T C rs147405280 MDN1 Nonsynonymous SNV T1520A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 210186 chr11 68845979 68845979 G A rs150000348 TPCN2 Synonymous SNV P420P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 210187 chr17 30648168 30648168 A G rs755701795 RHBDL3 Nonsynonymous SNV T318A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.659 210188 chr6 93969142 93969142 A G rs946160133 EPHA7 Synonymous SNV N613N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.363 210189 chr6 146678788 146678788 G C rs989543701 GRM1 Synonymous SNV V520V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 5.891 210190 chr14 102805525 102805525 G A rs370674726 ZNF839 Nonsynonymous SNV R515Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 210191 chr11 74208814 74208814 A G LOC100287896 Synonymous SNV Q288Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.343 210192 chr6 112439047 112439047 C T LAMA4 Nonsynonymous SNV A1626T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 210193 chr17 35802697 35802697 T G rs775126931 TADA2A Nonsynonymous SNV S159A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 210194 chr11 76239494 76239494 C G rs61754148 EMSY Synonymous SNV S727S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 210195 chr11 76371705 76371705 C G rs35130967 LRRC32 Nonsynonymous SNV G201A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 210196 chr14 105643357 105643357 C T rs141645903 NUDT14 Nonsynonymous SNV V45I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 210197 chr5 179306111 179306111 C T rs775215177 TBC1D9B Synonymous SNV T501T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.4 210198 chr6 158476004 158476004 C G rs755116293 SYNJ2 Synonymous SNV G30G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.46 210199 chr11 77412283 77412283 A C RSF1 Nonsynonymous SNV V664G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 210200 chr10 134713160 134713160 G A rs549853969 CFAP46 Nonsynonymous SNV R979W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26 210201 chr17 38818177 38818177 G T KRT222 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.515 210202 chr11 82879476 82879476 G A rs200011945 PCF11 Nonsynonymous SNV R831Q 0 0 0 3 0 0 0.008 0 0 0 0 0 24 210203 chr14 21770685 21770685 T C RPGRIP1 Nonsynonymous SNV F177L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 210204 chr7 105653450 105653450 G A rs79686695 CDHR3 Synonymous SNV Q311Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.829 210205 chr6 168439290 168439290 T G rs149429830 KIF25 Synonymous SNV V125V 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 10.18 210206 chr3 120973827 120973827 T A rs773245629 STXBP5L Synonymous SNV I509I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 210207 chr11 292973 292973 A G rs145280533 PGGHG Nonsynonymous SNV R416G 0.002 0 0.01 3 2 0 0.008 3 0 0 0 0 2.304 210208 chr6 170047954 170047954 G A rs375684041 WDR27 Synonymous SNV P333P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.027 210209 chr14 23345565 23345565 C T rs761060989 LRP10 Nonsynonymous SNV R470C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 210210 chr6 150719252 150719252 T C rs761428166 IYD Nonsynonymous SNV L168P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.414 210211 chr6 151672399 151672399 G C rs144497268 AKAP12 Nonsynonymous SNV R853T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.711 210212 chr11 93436008 93436008 G A CEP295 Nonsynonymous SNV G1840D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.3 210213 chr3 122437384 122437384 G C rs778464011 PARP14 Nonsynonymous SNV E1462D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.665 210214 chr14 23744892 23744892 T G rs186036904 HOMEZ Nonsynonymous SNV E515D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 210215 chr11 94113929 94113929 C A rs756863949 GPR83 Nonsynonymous SNV V178L 0 0 0 2 0 0 0.005 0 0 0 0 0 19.13 210216 chr7 121608070 121608070 A G rs775110184 PTPRZ1 Nonsynonymous SNV I64V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 210217 chr11 96074719 96074719 G A rs199840764 MAML2 Nonsynonymous SNV A114V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.01 210218 chr14 24607568 24607568 G A rs146188494 PSME1 Nonsynonymous SNV R181H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 210219 chr14 24729019 24729019 T C rs142634031 TGM1 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24.6 210220 chr14 24791342 24791342 C T rs149706608 ADCY4 Nonsynonymous SNV R839Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 210221 chr17 4086784 4086784 C T rs558725553 ANKFY1 Nonsynonymous SNV D663N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.64 210222 chr4 87705647 87705647 G A rs372940883 PTPN13 Synonymous SNV S1827S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.495 210223 chr7 134719060 134719060 C T AGBL3 Nonsynonymous SNV R240C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 210224 chr7 20199835 20199835 G A rs17142503 MACC1 Nonsynonymous SNV P50L 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 21.6 210225 chr12 106734635 106734635 A G rs144573610 TCP11L2 Nonsynonymous SNV I392V 0 0 0 3 0 0 0.008 0 0 0 0 0 9.074 210226 chr14 38218338 38218338 C T rs996694374 TTC6 Nonsynonymous SNV A869V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.904 210227 chr3 135721049 135721049 T C PPP2R3A Synonymous SNV L237L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 210228 chr6 167709635 167709635 C T rs761935242 UNC93A Nonsynonymous SNV R129C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 210229 chr6 170871014 170871016 CAG - rs751191209 TBP Q75del 0.004 0 0 2 5 0 0.005 0 0 0 0 0 210230 chr9 35045799 35045799 G T rs761398265 C9orf131 Nonsynonymous SNV G1023V 0 0 0 2 0 0 0.005 0 0 0 0 0 15.18 210231 chr6 170871049 170871049 - CAG TBP Q75_A76insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 210232 chr3 142275399 142275399 C T rs202162034 ATR Nonsynonymous SNV R571Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.584 210233 chr12 111890635 111890635 T A ATXN2 Nonsynonymous SNV H1001L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 210234 chr7 30951664 30951664 A G rs377506522 AQP1 Nonsynonymous SNV Q47R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.6 210235 chr7 149172471 149172471 T C rs149541542 ZNF746 Synonymous SNV P314P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.502 210236 chr7 149515035 149515035 G A rs373126672 SSPO 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.832 210237 chr7 149530927 149530927 G A rs751233432 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 4.943 210238 chr4 123280723 123280723 C T KIAA1109 Nonsynonymous SNV P4883S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 210239 chr7 150748348 150748348 - GCCGC ASIC3 Frameshift insertion A390Pfs*70 0 0 0.003 0 0 0 0 1 0 0 0 0 210240 chr7 150778866 150778866 C T rs1050046386 TMUB1 Nonsynonymous SNV V171M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 210241 chr6 56464880 56464880 T G rs201696158 DST Nonsynonymous SNV Q1271P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.1 210242 chr7 12684243 12684243 C G rs202220680 SCIN Nonsynonymous SNV D351E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.495 210243 chr12 123682838 123682838 C T rs766403530 MPHOSPH9 Nonsynonymous SNV V661M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 210244 chr7 20691167 20691167 G A rs151326874 ABCB5 Nonsynonymous SNV R41Q 0.006 0.003 0 0 7 1 0 0 0 0 0 0 24.3 210245 chr14 71413837 71413837 C T rs141783102 PCNX1 Nonsynonymous SNV P120L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 210246 chr7 21947896 21947896 G C CDCA7L Nonsynonymous SNV T132R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.227 210247 chr7 48352739 48352739 G T rs774792980 ABCA13 Nonsynonymous SNV A3198S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.596 210248 chr7 21765456 21765456 C T rs188615176 DNAH11 Nonsynonymous SNV R2432W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 27.5 210249 chr7 49815387 49815387 A G VWC2 Nonsynonymous SNV Q119R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.366 210250 chr4 159136389 159136389 C T rs149733307 TMEM144 Synonymous SNV A52A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.03 210251 chr4 165800132 165800132 C T rs890975297 APELA Nonsynonymous SNV P46L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.56 210252 chr4 169215039 169215039 G C DDX60 Nonsynonymous SNV R261G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.251 210253 chr7 295936 295936 C T rs577450352 FAM20C Synonymous SNV A398A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.2 210254 chrX 114424930 114424930 G T rs781927946 RBMXL3 Nonsynonymous SNV G309V 0.002 0 0 3 2 0 0.008 0 1 0 0 1 14.49 210255 chr3 192517093 192517093 G C MB21D2 Nonsynonymous SNV D186E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 210256 chr3 193120459 193120459 G A rs9863164 ATP13A4 Synonymous SNV S1191S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.53 210257 chr14 90729738 90729738 A G rs143172121 PSMC1 Synonymous SNV E77E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.565 210258 chr4 186545199 186545199 G A rs754042154 SORBS2 Nonsynonymous SNV R362C 0 0.003 0 0 0 1 0 0 0 0 0 0 28 210259 chr7 43482157 43482157 G A rs777637538 HECW1 Nonsynonymous SNV R325H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 210260 chr12 25034320 25034320 C T rs766983814 BCAT1 Nonsynonymous SNV R114Q 0 0 0 2 0 0 0.005 0 0 0 0 0 35 210261 chr14 94423185 94423185 G A rs146480080 ASB2 Nonsynonymous SNV R32W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 210262 chr12 27908289 27908289 A G MRPS35 Nonsynonymous SNV K293R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.074 210263 chr12 28702080 28702080 G A CCDC91 Nonsynonymous SNV A272T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 210264 chr7 45144616 45144616 C T rs145978581 SNORA5C 0 0 0.024 0 0 0 0 7 0 0 0 0 9.359 210265 chr7 45145611 45145611 C T rs147701772 SNORA5B 0 0 0.024 0 0 0 0 7 0 0 0 0 18.03 210266 chr14 95033435 95033435 T C rs149673933 SERPINA4 Nonsynonymous SNV Y297H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 210267 chr12 30824016 30824016 A C IPO8 Nonsynonymous SNV I103M 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 210268 chr12 31106964 31106964 C T rs148657299 TSPAN11 Synonymous SNV I13I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.03 210269 chr4 1017464 1017464 G A rs769257115 FGFRL1 Nonsynonymous SNV D130N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.341 210270 chr17 73127798 73127798 G A rs534744896 NT5C Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 210271 chr5 1264587 1264587 G A rs34528119 TERT Synonymous SNV H925H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 0.507 210272 chr12 33535284 33535284 C T SYT10 Nonsynonymous SNV R457K 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 210273 chr17 73831016 73831016 G A rs2290770 UNC13D Synonymous SNV T659T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 15.46 210274 chr12 48387259 48387259 G A rs778611011 COL2A1 Synonymous SNV N248N 0 0 0 2 0 0 0.005 0 0 0 0 0 11.71 210275 chr7 72987212 72987212 C T rs61736741 TBL2 Synonymous SNV Q64Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.36 210276 chr7 73811479 73811479 T C rs76865959 CLIP2 Synonymous SNV R897R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.969 210277 chr4 6718296 6718296 C T rs370419415 BLOC1S4 Synonymous SNV R120R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.48 210278 chr7 76885666 76885666 T C rs748137131 CCDC146 Nonsynonymous SNV M175T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 210279 chr4 7735117 7735117 G A SORCS2 Synonymous SNV R1059R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 210280 chr15 34393811 34393811 A C EMC7 Nonsynonymous SNV F77C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 31 210281 chr15 34393812 34393812 A C EMC7 Nonsynonymous SNV F77V 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 28.5 210282 chr17 76420085 76420085 T C rs78023288 DNAH17 Nonsynonymous SNV I4431V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.034 210283 chr5 35705780 35705780 T C SPEF2 Synonymous SNV P845P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.105 210284 chr17 76498073 76498073 G A DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.59 210285 chr5 39074259 39074259 C T RICTOR Synonymous SNV G17G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.35 210286 chr12 51236890 51236890 G C TMPRSS12 Nonsynonymous SNV R48P 0 0 0 2 0 0 0.005 0 0 0 0 0 20.4 210287 chr4 13603592 13603592 G A rs144172082 BOD1L1 Synonymous SNV S1644S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.42 210288 chr17 78041409 78041409 C T rs902840891 CCDC40 Synonymous SNV P556P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.711 210289 chr12 52711549 52711549 G T rs2857667 KRT83 Stop gain C222X 0.003 0 0 4 4 0 0.01 0 0 0 0 0 Likely benign 36 210290 chr17 78341806 78341806 C T rs369793176 RNF213 Synonymous SNV D4006D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 210291 chr17 78350727 78350727 C T rs140733234 RNF213 Nonsynonymous SNV R4492W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 210292 chr7 104773262 104773262 C T rs56172322 SRPK2 Synonymous SNV A565A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.9 210293 chr11 27493821 27493821 A G LGR4 Nonsynonymous SNV F10S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.41 210294 chr7 106826324 106826324 G A rs573245535 HBP1 Synonymous SNV S169S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.56 210295 chr7 97833476 97833476 C T rs150658004 LMTK2 Synonymous SNV T1487T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 210296 chr11 31086077 31086077 C T rs756444965 DCDC1 Nonsynonymous SNV E844K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.39 210297 chr15 42981377 42981377 C T rs75021400 STARD9 Nonsynonymous SNV P2534L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 2.614 210298 chr7 99764240 99764240 A G rs142988850 GAL3ST4 Nonsynonymous SNV F105S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.1 210299 chr15 43363049 43363049 G A rs372941665 UBR1 Synonymous SNV V201V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.69 210300 chr15 43507393 43507393 C T rs1042168 EPB42 Synonymous SNV A140A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.26 210301 chr15 43512995 43512995 G A rs77809780 EPB42 Nonsynonymous SNV S10L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 17.41 210302 chr15 43527871 43527871 C T rs7171797 TGM5 Nonsynonymous SNV V422M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.2 210303 chr15 43533091 43533091 G A rs34222269 TGM5 Synonymous SNV N238N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.937 210304 chr15 43552428 43552428 G C rs138507857 TGM5 Nonsynonymous SNV S86R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.847 210305 chr15 43568794 43568794 G A rs59900401 TGM7 Synonymous SNV A664A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.873 210306 chr15 43571407 43571407 G A rs145482913 TGM7 Nonsynonymous SNV R583C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 210307 chr15 43571958 43571958 C A rs59550885 TGM7 Nonsynonymous SNV V515L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.73 210308 chr15 43579621 43579621 C T rs60154727 TGM7 Nonsynonymous SNV G241E 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 210309 chr15 43690300 43690300 T C rs999025 TUBGCP4 Synonymous SNV S448S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.15 210310 chr10 117059547 117059547 G A ATRNL1 Nonsynonymous SNV V807I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.73 210311 chr8 11832099 11832100 AG - rs757889865 DEFB136 C4Sfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 210312 chr10 119043373 119043373 A C rs778286761 PDZD8 Synonymous SNV S957S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 210313 chr12 54575923 54575923 T C rs768655006 SMUG1 Nonsynonymous SNV E155G 0 0 0.003 3 0 0 0.008 1 0 0 0 0 17.33 210314 chr4 57181765 57181765 C A rs373468081 CRACD Synonymous SNV P699P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 210315 chr5 76926485 76926496 GGCGGCGGCAGC - rs771845763 OTP A191_A194del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 210316 chr5 78324364 78324364 G A rs199926747 DMGDH Stop gain Q642X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 41 210317 chr12 56742818 56742818 G T rs138681270 STAT2 Nonsynonymous SNV P489H 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Uncertain significance 22.6 210318 chr18 20716502 20716504 ACT - rs780136681 CABLES1 Y260del 0.001 0 0 0 1 0 0 0 0 0 0 0 210319 chr18 20833720 20833720 G A rs772282378 CABLES1 Synonymous SNV A527A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.88 210320 chr10 125780749 125780749 G C rs746957393 CHST15 Nonsynonymous SNV T457S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.709 210321 chr12 57112481 57112481 C T rs753101609 NACA Nonsynonymous SNV A945T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 4.437 210322 chr18 21483002 21483002 G C rs754809609 LAMA3 Nonsynonymous SNV Q412H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.4 210323 chr4 75023909 75023909 G C MTHFD2L Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 210324 chr7 5751464 5751464 C A RNF216 Synonymous SNV P663P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 210325 chr10 128925950 128925950 C T rs372228960 DOCK1 Synonymous SNV H923H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 210326 chr10 129201372 129201372 C T rs188338929 DOCK1 Synonymous SNV N1327N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.7 210327 chr7 148768025 148768025 G A ZNF786 Synonymous SNV R613R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.747 210328 chr18 29848633 29848633 G A rs140158232 GAREM1 Nonsynonymous SNV P611L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.5 210329 chr8 144450708 144450708 C G rs139794588 RHPN1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.494 210330 chr18 3255619 3255619 G A LOC104968399 0.002 0 0 0 2 0 0 0 0 0 0 0 4.3 210331 chr8 144822092 144822115 CGGCTGAGAGCCCACAGGCCCCCA - FAM83H-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 210332 chr7 103275902 103275902 T C RELN Nonsynonymous SNV H812R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 210333 chr7 150707344 150707344 G T rs3918201 NOS3 Nonsynonymous SNV R885M 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign 22.9 210334 chr7 150873246 150873246 G A rs3800791 ASB10 Nonsynonymous SNV R415C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.96 210335 chr7 150884639 150884639 C T rs555274807 ASB10 Synonymous SNV G57G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.41 210336 chr18 46476626 46476626 T C SMAD7 Nonsynonymous SNV R57G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.712 210337 chr7 150932155 150932155 G A rs146782442 CHPF2 Synonymous SNV E95E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 6.53 210338 chr15 72192241 72192241 C T rs75986913 MYO9A Nonsynonymous SNV R1086H 0.003 0 0 5 4 0 0.013 0 0 0 0 0 Likely benign 27.7 210339 chr8 145154952 145154958 GTGGTGA - SHARPIN S131Qfs*37 0 0 0.003 0 0 0 0 1 0 0 0 0 210340 chr7 154862864 154862864 G A rs765107082 HTR5A Synonymous SNV S85S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 13.16 210341 chr4 102946422 102946422 T C BANK1 Synonymous SNV A317A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.456 210342 chr15 74882175 74882175 C A rs148447597 ARID3B Synonymous SNV R238R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 22.2 210343 chr4 106474097 106474097 G T rs148016102 ARHGEF38 Stop gain E59X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 210344 chr7 158439163 158439163 C T rs192363025 NCAPG2 Synonymous SNV S1056S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.59 210345 chr18 56202844 56202844 C T rs200797611 ALPK2 Synonymous SNV E1525E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.38 210346 chr8 623821 623821 G A rs61743225 ERICH1 Synonymous SNV A177A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.52 210347 chr8 1905426 1905426 A G rs139457662 ARHGEF10 Nonsynonymous SNV I1306M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 210348 chr8 17421188 17421188 C G rs140440674 SLC7A2 Nonsynonymous SNV T583S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 210349 chr7 128488022 128488022 C T rs779079128 FLNC Nonsynonymous SNV R1494W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 34 210350 chr4 111542414 111542414 T C PITX2 Nonsynonymous SNV E106G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 210351 chr4 113199216 113199216 G A rs79521596 TIFA Synonymous SNV F119F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 210352 chr7 129664182 129664182 C T rs532243281 ZC3HC1 Nonsynonymous SNV R314H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 210353 chr15 78293987 78293987 G A rs951862447 TBC1D2B Synonymous SNV Y890Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.535 210354 chr8 6264063 6264063 C T rs370544928 LOC100287015 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.67 210355 chr5 138209278 138209278 G A LRRTM2 Synonymous SNV S324S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.104 210356 chr12 88448136 88448136 G A rs200969981 CEP290 Nonsynonymous SNV R2339W 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Uncertain significance 26 210357 chr8 20068761 20068761 G A rs887467674 ATP6V1B2 Synonymous SNV G179G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.239 210358 chr15 79606336 79606336 G C TMED3 Nonsynonymous SNV A136P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.5 210359 chr7 133884023 133884023 G C rs140376316 LRGUK Nonsynonymous SNV V533L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 210360 chr4 123167309 123167309 A T rs768645953 KIAA1109 Nonsynonymous SNV L1680F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 210361 chr12 96371731 96371731 C T rs61937878 HAL Nonsynonymous SNV V341M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 24.9 210362 chr5 140774233 140774233 C T PCDHGA8 Nonsynonymous SNV S618L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 210363 chr12 9906092 9906092 G T CD69 Nonsynonymous SNV N195K 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 210364 chr18 77477927 77477927 C T CTDP1 Synonymous SNV S657S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.015 210365 chr4 146576351 146576351 A G MMAA Nonsynonymous SNV K341R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 210366 chr18 8314847 8314847 T C PTPRM Nonsynonymous SNV Y958H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 210367 chr15 86790996 86790996 C T rs544493920 AGBL1 Synonymous SNV Y207Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.219 210368 chr15 89870504 89870504 G A rs747485523 POLG Nonsynonymous SNV R443C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 210369 chr15 90174728 90174728 C T rs779514045 KIF7 Nonsynonymous SNV E1037K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 210370 chr4 166910546 166910546 C T rs752281443 TLL1 Synonymous SNV G61G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 210371 chr8 48875363 48875363 G A rs140307429 MCM4 Nonsynonymous SNV E181K 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 22.6 210372 chr8 54682305 54682305 T C ATP6V1H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 210373 chr13 114138183 114138185 CTT - rs780116262 DCUN1D2 K64del 0 0 0 3 0 0 0.008 0 0 0 0 0 210374 chr8 56702828 56702828 C G rs146907949 TGS1 Nonsynonymous SNV P324R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 210375 chr13 114762140 114762140 C T rs751525550 RASA3 Nonsynonymous SNV D638N 0 0 0 3 0 0 0.008 0 0 0 0 0 26.8 210376 chr13 23929441 23929441 G A rs199657817 SACS Nonsynonymous SNV T290M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 0.006 210377 chr4 185550501 185550501 G A rs147675733 CASP3 Synonymous SNV D227D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.223 210378 chr8 6699274 6699274 G A rs546356975 GS1-24F4.2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.121 210379 chr8 67507915 67507915 C T rs201510981 MYBL1 Nonsynonymous SNV G197E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25 210380 chr19 12911012 12911012 G A rs763372074 PRDX2 Nonsynonymous SNV T120I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 210381 chr7 154863196 154863196 G A HTR5A Nonsynonymous SNV R196H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 210382 chr7 156755738 156755738 C T rs138117452 NOM1 Nonsynonymous SNV R595C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 210383 chr8 61766022 61766022 G A rs61729627 CHD7 Synonymous SNV E2246E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 11.54 210384 chr8 9564440 9564440 A G rs368930379 TNKS Synonymous SNV L463L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.085 210385 chr8 73849465 73849465 C T rs146297405 KCNB2 Synonymous SNV S625S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 3.801 210386 chr8 81426151 81426151 A G rs780240936 ZBTB10 Nonsynonymous SNV D623G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 24.1 210387 chr8 9605637 9605637 C T rs1036848566 TNKS Nonsynonymous SNV T916M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 210388 chr9 102744900 102744900 C T rs147706164 ERP44 Synonymous SNV E405E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.31 210389 chr5 177421297 177421297 C A rs2233783 PROP1 Nonsynonymous SNV G51V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.001 210390 chr8 11405552 11405552 G A rs138972988 BLK Nonsynonymous SNV V63M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.4 210391 chr5 13868071 13868071 G A DNAH5 Nonsynonymous SNV L1289F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 210392 chr16 1918156 1918156 C T rs369449926 MEIOB Synonymous SNV A7A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.914 210393 chr9 107578478 107578478 C T rs2230807 ABCA1 Synonymous SNV R1228R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.42 210394 chr16 19451493 19451493 C A rs372162376 TMC5 Nonsynonymous SNV P45T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 210395 chr9 108123578 108123578 C T rs201199019 SLC44A1 Synonymous SNV L289L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 16.66 210396 chr5 13917329 13917329 T A DNAH5 Nonsynonymous SNV T338S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.02 210397 chr8 99028811 99028811 G A rs79255841 MATN2 Synonymous SNV S498S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.948 210398 chr9 112207563 112207563 G A rs61747620 PTPN3 Synonymous SNV C10C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.32 210399 chr9 112219589 112219589 C T rs35285139 PTPN3 Nonsynonymous SNV D77N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.3 210400 chr8 103564198 103564198 C T rs139792741 ODF1 Synonymous SNV Y81Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.887 210401 chr16 20996588 20996588 G A rs149829197 DNAH3 Synonymous SNV A2446A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.35 210402 chr16 21991909 21991909 C T UQCRC2 Nonsynonymous SNV S389F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 210403 chr13 67801342 67801342 A G rs768129728 PCDH9 Synonymous SNV L411L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 210404 chr8 113960033 113960033 G A rs61759498 CSMD3 Synonymous SNV I368I 0 0.003 0 3 0 1 0.008 0 0 0 0 1 Benign 13.4 210405 chr8 119122726 119122726 C A EXT1 Nonsynonymous SNV G187V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28 210406 chr19 18121158 18121158 C T rs761043664 ARRDC2 Nonsynonymous SNV R330W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.6 210407 chr13 96443198 96443198 C T rs202246204 DNAJC3 Nonsynonymous SNV P477S 0 0 0 2 0 0 0.005 0 0 0 0 0 22 210408 chr5 41065470 41065470 G A rs371986783 MROH2B Synonymous SNV F108F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.942 210409 chr8 124701139 124701139 G A rs34594422 ANXA13 Synonymous SNV G230G 0 0.008 0 1 0 3 0.003 0 0 0 0 0 11.54 210410 chr14 102909992 102909992 G A rs760730551 TECPR2 Nonsynonymous SNV V921M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 210411 chr16 30750587 30750587 A G rs200710301 SRCAP Nonsynonymous SNV M3076V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 210412 chr19 19822366 19822366 C T rs148178021 ZNF14 Nonsynonymous SNV R575Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 210413 chr8 139628292 139628292 C G rs544402942 COL22A1 Nonsynonymous SNV E1292D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 17.28 210414 chr8 139636013 139636013 C T rs533480261 COL22A1 Nonsynonymous SNV E1245K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.4 210415 chr9 126794961 126794961 A G rs768983413 LHX2 Nonsynonymous SNV Q399R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 210416 chr14 104643693 104643693 C T rs768339996 KIF26A Nonsynonymous SNV T1523M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.35 210417 chr9 127998967 127998967 C A rs772596266 HSPA5 Synonymous SNV L623L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 210418 chr6 26056039 26056039 C T rs61742488 H1-2 Synonymous SNV K206K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.21 210419 chr6 26407901 26407901 C T rs770236343 BTN3A1 Synonymous SNV L146L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.94 210420 chr11 1017336 1017336 G C rs377439739 MUC6 Nonsynonymous SNV T1822S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 210421 chr9 13247715 13247715 G C rs372321052 MPDZ Nonsynonymous SNV S34R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 210422 chr14 20845791 20845791 G A rs149326341 TEP1 Nonsynonymous SNV A1840V 0 0 0 5 0 0 0.013 0 0 0 0 0 16.51 210423 chr8 56675338 56675338 T C rs373172427 TMEM68 Nonsynonymous SNV I61V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 210424 chr6 34848138 34848138 A G TAF11 Synonymous SNV S112S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.254 210425 chr14 21794177 21794177 G A rs181758389 RPGRIP1 Nonsynonymous SNV R852Q 0 0.003 0.003 5 0 1 0.013 1 0 0 0 0 Uncertain significance 12.98 210426 chr8 79624284 79624284 A G rs530053616 ZC2HC1A Nonsynonymous SNV D255G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 210427 chr8 87060843 87060843 T C rs16876805 PSKH2 Nonsynonymous SNV I336V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.66 210428 chr8 145140383 145140383 G A GPAA1 0 0.008 0 1 0 3 0.003 0 0 0 0 0 23.9 210429 chr16 57057757 57057757 A G rs751936148 NLRC5 Nonsynonymous SNV Q139R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 210430 chr19 36244987 36244987 C T rs35617825 LIN37 Nonsynonymous SNV P158S 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 9.374 210431 chr5 90159670 90159670 C T ADGRV1 Nonsynonymous SNV T5951I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 210432 chr19 36321820 36321820 G A rs115489112 NPHS1 Nonsynonymous SNV H1174Y 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 210433 chr11 102479756 102479756 T C rs139717539 MMP20 Synonymous SNV S241S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 3.56 210434 chr9 139272551 139272551 C T rs779265908 SNAPC4 Nonsynonymous SNV R1243H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 210435 chr11 103126189 103126189 C A rs543525711 DYNC2H1 Nonsynonymous SNV Q3418K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 210436 chr5 96245316 96245316 T C rs752692664 ERAP2 Synonymous SNV I689I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.976 210437 chr8 103855779 103855779 C T AZIN1 Synonymous SNV L34L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 210438 chr14 23862710 23862710 C T rs145274612 MYH6 Synonymous SNV E982E 0.003 0.01 0.01 3 3 4 0.008 3 0 0 0 0 Benign/Likely benign 12.61 210439 chr9 139371940 139371940 G A rs144088895 SEC16A Nonsynonymous SNV P43L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 210440 chr11 107393127 107393127 C T ALKBH8 Synonymous SNV P398P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.06 210441 chr11 107393275 107393275 G A ALKBH8 Nonsynonymous SNV P349L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 210442 chr14 24647343 24647343 G C rs375099298 REC8 Nonsynonymous SNV R303P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 19.43 210443 chr9 2729567 2729569 ACA - KCNV2 N494del 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 210444 chr19 38102516 38102516 G A rs201075691 ZNF540 Nonsynonymous SNV R80H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 210445 chr19 38202512 38202512 T C rs142544482 ZNF607 Nonsynonymous SNV Y3C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.079 210446 chr5 121355822 121355822 C A SRFBP1 Nonsynonymous SNV A131D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 210447 chr9 13188953 13188953 A T rs200475640 MPDZ Nonsynonymous SNV S732T 0 0.008 0.007 2 0 3 0.005 2 0 0 0 0 Likely benign 24.6 210448 chr14 34269741 34269741 C T NPAS3 Nonsynonymous SNV A713V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.734 210449 chr9 14737469 14737469 T C rs368790874 FREM1 Synonymous SNV Q691Q 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 3.183 210450 chr8 125464357 125464357 G T TRMT12 Stop gain E397X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 210451 chr8 125565634 125565634 C T rs755179797 MTSS1 Nonsynonymous SNV V558I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 210452 chr19 38981268 38981268 T C rs199947661 RYR1 Nonsynonymous SNV M2008T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 12.4 210453 chr11 11955446 11955446 T A rs759914829 USP47 Nonsynonymous SNV D437E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 210454 chr5 133655056 133655056 A G rs759947480 CDKL3 Nonsynonymous SNV I73T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 210455 chr9 27297042 27297042 T C EQTN Nonsynonymous SNV I4M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 210456 chr9 33943430 33943430 G A rs10971808 UBAP2 Nonsynonymous SNV S515L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 26.5 210457 chr11 119206877 119206877 C T rs150700766 RNF26 Nonsynonymous SNV P349S 0 0 0 2 0 0 0.005 0 0 0 0 0 1.826 210458 chr5 139908255 139908255 T C rs201276384 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV N1908N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 210459 chr9 36357894 36357894 C T rs183475137 RNF38 Nonsynonymous SNV A156T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.32 210460 chr19 4179250 4179250 T C rs11554579 SIRT6 Synonymous SNV R4R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.665 210461 chr9 71509528 71509528 A G rs759966550 PIP5K1B Nonsynonymous SNV M249V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.531 210462 chr11 1249845 1249845 G A MUC5B Nonsynonymous SNV A276T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.395 210463 chr19 42857747 42857747 C T MEGF8 Synonymous SNV L1160L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 210464 chr11 129725683 129725683 G A rs547067888 TMEM45B Nonsynonymous SNV G156R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 210465 chr5 140799513 140799513 T C PCDHGB7 Nonsynonymous SNV L696S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 210466 chr16 85141504 85141504 A C rs144820922 FAM92B Nonsynonymous SNV L125R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 20.6 210467 chr14 65260552 65260552 T C SPTB Nonsynonymous SNV D610G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 210468 chr11 133796838 133796838 T C IGSF9B Nonsynonymous SNV S594G 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 210469 chr6 106555195 106555195 G A rs80257572 PRDM1 Nonsynonymous SNV G637D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 not provided 9.434 210470 chr9 96439102 96439102 G T rs201835809 PHF2 Nonsynonymous SNV S1020I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 210471 chr12 1702957 1702957 G A rs199753406 FBXL14 Synonymous SNV I92I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.07 210472 chrX 103495118 103495171 GCGCCATGGGCGGCCCGGGTGGCACACGCGCCATGGGCGGCCCGGGTGGCACAG - ESX1 P320_A337del 0 0 0.007 0 0 0 0 2 0 0 1 0 210473 chr11 134014213 134014213 C T JAM3 Nonsynonymous SNV L112F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 210474 chr12 2787041 2787041 G A rs768117202 CACNA1C-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.438 210475 chr16 88717420 88717420 A G CYBA Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 210476 chr16 88772596 88772596 G A rs574966335 RNF166 Synonymous SNV I46I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.21 210477 chr12 4736716 4736716 T A rs757290476 AKAP3 Nonsynonymous SNV E451V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 210478 chr14 75248553 75248553 C G rs767037831 YLPM1 Nonsynonymous SNV P603A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.21 210479 chrX 122528881 122528881 G C rs756316953 GRIA3 Nonsynonymous SNV Q271H 0 0 0.007 0 0 0 0 2 0 0 1 0 Uncertain significance 23.4 210480 chr12 4919381 4919381 C G rs143587603 KCNA6 Synonymous SNV T58T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 11.21 210481 chr16 89017560 89017560 T C rs34827674 LOC100129697 Nonsynonymous SNV I345T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.34 210482 chr19 4538563 4538563 G C rs146014281 LRG1 Nonsynonymous SNV L145V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 210483 chr9 3247972 3247972 G C rs144215421 RFX3 Nonsynonymous SNV H676Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.535 210484 chrX 140995709 140995709 C T rs372547539 MAGEC1 Nonsynonymous SNV S840L 0 0 0.007 1 0 0 0.003 2 0 0 1 0 14.88 210485 chr14 77794333 77794333 G A rs140540096 GSTZ1 Nonsynonymous SNV V100M 0 0 0 1 0 0 0.003 0 0 0 0 0 Affects 29.3 210486 chr9 111735077 111735077 A T CTNNAL1 Nonsynonymous SNV L409I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.11 210487 chr14 79433575 79433575 C T rs779610085 NRXN3 Synonymous SNV L561L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.99 210488 chr5 156589481 156589481 C T rs2115480 FAM71B Nonsynonymous SNV V599I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 210489 chr14 81970640 81970640 C T rs750728160 SEL1L Synonymous SNV E173E 0 0 0 2 0 0 0.005 0 0 0 0 0 16.82 210490 chr14 88892590 88892590 G A rs199727517 SPATA7 Synonymous SNV P97P 0.002 0.005 0 4 2 2 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.278 210491 chrX 153590088 153590088 A G FLNA Nonsynonymous SNV V965A 0 0 0.007 0 0 0 0 2 0 0 1 0 26.6 210492 chr12 9021147 9021147 G A rs200744656 A2ML1 Nonsynonymous SNV R868H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25 210493 chr9 113234543 113234543 G A rs745435643 SVEP1 Nonsynonymous SNV T887I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 4.096 210494 chrX 15529611 15529611 C T rs150627254 BMX Stop gain R99X 0 0 0.007 0 0 0 0 2 0 0 1 0 37 210495 chr9 18826452 18826452 C T ADAMTSL1 Synonymous SNV L1369L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.28 210496 chr5 175811366 175811366 G A rs759109610 NOP16 Nonsynonymous SNV R130C 0.001 0 0 0 1 0 0 0 0 0 0 0 22 210497 chrX 70641181 70641181 G A rs777129705 TAF1 Synonymous SNV Q1489Q 0 0 0.01 0 0 0 0 3 0 0 1 0 9.109 210498 chrX 73959970 73959970 C T rs371190782 NEXMIF Synonymous SNV K1474K 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 8.836 210499 chr5 177634178 177634178 C G rs777397806 HNRNPAB Synonymous SNV P207P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.17 210500 chr5 178032314 178032314 G C rs755792349 CLK4 Nonsynonymous SNV Q402E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 210501 chr8 77896233 77896233 C G PEX2 Nonsynonymous SNV W61S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21 210502 chr5 179192381 179192381 G A rs770161505 MAML1 Nonsynonymous SNV G124S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 210503 chr6 157522341 157522341 C T rs757628046 ARID1B Nonsynonymous SNV P828L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 210504 chr10 101293219 101293219 C A rs780254468 NKX2-3 Nonsynonymous SNV P111T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 210505 chr10 101596009 101596009 C G rs146575217 ABCC2 Synonymous SNV T1192T 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.45 210506 chr8 99170150 99170150 T C rs572851404 POP1 Nonsynonymous SNV L909P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 210507 chr9 88272463 88272463 T A rs748002753 AGTPBP1 Nonsynonymous SNV M318L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 210508 chr12 23908582 23908582 G A rs200177288 SOX5 Synonymous SNV G176G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.81 210509 chr10 1063038 1063038 G C rs147640846 GTPBP4 Nonsynonymous SNV M592I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17 210510 chr10 108412215 108412215 C T rs61734238 SORCS1 Synonymous SNV L800L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 210511 chr9 95772651 95772651 C T rs113145792 FGD3 Nonsynonymous SNV R321W 0.002 0 0 0 2 0 0 0 0 0 0 0 17.72 210512 chr15 40916503 40916503 T C KNL1 Synonymous SNV S1347S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 210513 chr9 100451882 100451882 C A rs104894131 XPA Nonsynonymous SNV C108F 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 210514 chr8 124985724 124985724 A G rs72709143 FER1L6 Synonymous SNV V166V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.115 210515 chr8 125083865 125083865 T C rs201086905 FER1L6 Nonsynonymous SNV I1362T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.4 210516 chr8 125499663 125499663 C T rs762605975 RNF139 Synonymous SNV I591I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 210517 chr12 45417641 45417641 G C rs73275596 DBX2 Nonsynonymous SNV S179C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.7 210518 chr9 104239273 104239273 C T rs746822435 PGAP4 Synonymous SNV T34T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 210519 chr9 132576427 132576427 T C rs148036363 TOR1A Nonsynonymous SNV K275E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 210520 chr7 4169747 4169747 G A rs371863042 LOC105375131 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.485 210521 chr6 26446050 26446050 A T rs751265742 BTN3A3 Synonymous SNV G184G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 210522 chr10 1262895 1262895 C T rs142663256 ADARB2 Nonsynonymous SNV A560T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 210523 chr12 49445501 49445501 G T rs200939188 KMT2D Synonymous SNV P655P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 Benign/Likely benign 0.039 210524 chr12 49446450 49446450 G A rs545791832 KMT2D Synonymous SNV P385P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 11.4 210525 chr7 6449878 6449878 C T rs369940779 DAGLB Nonsynonymous SNV R439H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.941 210526 chr15 48551421 48551421 G A rs35783293 SLC12A1 Synonymous SNV G689G 0 0.008 0 4 0 3 0.01 0 0 0 0 0 Benign/Likely benign 8.391 210527 chr19 53855619 53855619 C T rs762585175 ZNF845 Nonsynonymous SNV S564L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 210528 chr15 52258418 52258418 A T LEO1 Nonsynonymous SNV N114K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 210529 chr10 135083445 135083445 C T rs748191723 ADAM8 Nonsynonymous SNV V607I 0 0 0.007 0 0 0 0 2 0 0 0 0 16.74 210530 chr10 14425221 14425221 G C rs12220909 MIR4293 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 210531 chr15 57730702 57730702 C G rs554587755 CGNL1 Nonsynonymous SNV P169A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 210532 chr9 139391815 139391815 C T rs572960572 NOTCH1 Nonsynonymous SNV G2126R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 24.5 210533 chr10 19884231 19884231 - GA MALRD1 Frameshift insertion I1930Mfs*99 0 0 0.003 0 0 0 0 1 0 0 0 0 210534 chr10 19884235 19884239 TGGAT - MALRD1 Stop gain G1932* 0 0 0.003 0 0 0 0 1 0 0 0 0 210535 chr6 42130763 42130763 G A rs115035183 LOC114841037 Nonsynonymous SNV E54K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 210536 chr9 140063586 140063587 AG - rs745583684 LRRC26 L242Dfs*9 0 0.005 0 1 0 2 0.003 0 0 0 0 0 210537 chr9 140076273 140076273 G A ANAPC2 Nonsynonymous SNV T443M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 32 210538 chr19 55748337 55748337 C T rs200656242 PPP6R1 Nonsynonymous SNV A585T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 210539 chr9 140110806 140110806 G A rs147972002 NDOR1 Nonsynonymous SNV A587T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.6 210540 chr10 26243863 26243863 A G rs747423319 MYO3A Nonsynonymous SNV N77D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 210541 chr19 55899650 55899650 A C RPL28 Nonsynonymous SNV K122Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 210542 chr15 65883957 65883957 C T rs369418631 INTS14 Nonsynonymous SNV A288T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 210543 chr10 32322960 32322960 G A rs182324493 KIF5B Nonsynonymous SNV T373M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.8 210544 chr12 56420625 56420625 A G rs759172907 IKZF4 Nonsynonymous SNV D71G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 210545 chr7 45145252 45145252 G A rs750419470 TBRG4 Nonsynonymous SNV R186C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 210546 chr6 49448742 49448742 T A rs757609331 CENPQ Nonsynonymous SNV N142K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.187 210547 chr12 57906609 57906609 C T rs749222145 MARS1 Nonsynonymous SNV T610M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 210548 chr10 6553145 6553145 T C rs184174186 PRKCQ Nonsynonymous SNV M44V 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 6.814 210549 chr9 131482026 131482026 G A PKN3 Synonymous SNV E729E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.676 210550 chr12 58204287 58204287 A G rs749843523 AVIL Synonymous SNV R202R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.691 210551 chr19 57328534 57328534 T C PEG3 Nonsynonymous SNV M271V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 210552 chr6 55304334 55304334 G A rs186128280 HMGCLL1 Synonymous SNV S170S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 210553 chr7 55270362 55270362 G A rs200387958 EGFR Synonymous SNV S1060S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.156 210554 chr12 70970167 70970167 C T PTPRB Nonsynonymous SNV R638Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 210555 chr12 77424052 77424052 A C E2F7 Synonymous SNV A481A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.142 210556 chr10 21309091 21309091 T A rs563150056 NEBL Synonymous SNV T68T 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Likely benign 13.82 210557 chr19 58967870 58967870 G A rs749011489 ZNF324B Nonsynonymous SNV G520D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.823 210558 chr9 137653805 137653805 C T rs149912828 COL5A1 Nonsynonymous SNV P657L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 27.3 210559 chr10 28345498 28345498 G C rs765492482 MPP7 Nonsynonymous SNV P488A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 25.7 210560 chr10 30739252 30739252 C T rs763380610 MAP3K8 Synonymous SNV I190I 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 15.19 210561 chr12 95365337 95365337 C T rs374995908 NDUFA12 Nonsynonymous SNV R106H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 23.7 210562 chr12 95918472 95918472 G A USP44 Nonsynonymous SNV H573Y 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 210563 chr10 72201274 72201274 G T NODAL Nonsynonymous SNV D50E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 210564 chr17 46654362 46654362 C T rs771104213 HOXB4 Nonsynonymous SNV G160R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 33 210565 chr6 100061505 100061505 G A rs772185121 PRDM13 Nonsynonymous SNV G332R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 210566 chr17 47021318 47021318 C T rs747981978 SNF8 Nonsynonymous SNV G25E 0.001 0 0 0 1 0 0 0 0 0 0 0 34 210567 chr6 111583510 111583510 C T rs140746881 MFSD4B Synonymous SNV N26N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 210568 chr12 110426869 110426869 T A rs779904959 GIT2 Nonsynonymous SNV N102Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.8 210569 chr17 48615447 48615447 T G EPN3 Synonymous SNV S190S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.988 210570 chr16 11859454 11859454 C T rs149624630 ZC3H7A Nonsynonymous SNV R537Q 0 0 0 2 0 0 0.005 0 0 0 0 0 34 210571 chr6 116600111 116600111 C T rs761914137 TSPYL1 Nonsynonymous SNV G295S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 210572 chr16 12875249 12875249 C T rs376408924 CPPED1 Nonsynonymous SNV E28K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 210573 chr12 118693338 118693338 G T rs78662524 TAOK3 Nonsynonymous SNV A12D 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 23.6 210574 chr17 56350828 56350841 GGGTTGGGTTCCAT - rs536522394 MPO M519Pfs*21 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 210575 chr17 56350853 56350853 G A rs765071659 MPO Nonsynonymous SNV R515W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 210576 chr6 123126204 123126204 G T rs777476071 SMPDL3A Nonsynonymous SNV D166Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 210577 chr10 63957705 63957705 T C rs148375207 RTKN2 Nonsynonymous SNV I598V 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 0.129 210578 chr16 1576070 1576070 G A rs148557575 IFT140 Synonymous SNV A862A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.238 210579 chr10 7605103 7605103 T C rs188458658 ITIH5 Synonymous SNV A710A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.462 210580 chr6 128294292 128294292 C T rs746247295 PTPRK Nonsynonymous SNV G1381R 0.001 0 0 0 1 0 0 0 0 0 0 0 35 210581 chr10 93590721 93590721 A T rs61749237 TNKS2 Synonymous SNV I382I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 2.113 210582 chr6 131897820 131897820 A C rs755973004 ARG1 Nonsynonymous SNV E25D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 210583 chr10 12211313 12211313 T C SEC61A2 Nonsynonymous SNV I434T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.981 210584 chr10 13217560 13217560 C G rs141567347 MCM10 Nonsynonymous SNV Q215E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.353 210585 chr17 61897672 61897672 T C rs114633570 FTSJ3 Synonymous SNV E733E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.864 210586 chr16 2012520 2012520 G A rs146634856 RPS2 Synonymous SNV C229C 0 0 0 2 0 0 0.005 0 0 0 0 0 9.887 210587 chr17 62018189 62018189 G A rs556334853 SCN4A Nonsynonymous SNV P1818L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.248 210588 chr10 98766426 98766426 A G rs200594842 SLIT1 Synonymous SNV C1131C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.346 210589 chr11 1016071 1016071 T C rs761166287 MUC6 Nonsynonymous SNV S2244G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 210590 chr6 143823565 143823565 A G rs368673865 FUCA2 Nonsynonymous SNV I297T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 210591 chr17 66453530 66453530 G A WIPI1 Synonymous SNV G11G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.7 210592 chr16 24946797 24946797 G A ARHGAP17 Nonsynonymous SNV R552C 0 0 0 3 0 0 0.008 0 0 0 0 0 27.5 210593 chr12 132249035 132249035 C T SFSWAP Synonymous SNV A585A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.85 210594 chr16 27518301 27518301 G A GTF3C1 Synonymous SNV T473T 0 0 0 2 0 0 0.005 0 0 0 0 0 8.324 210595 chr6 151865789 151865789 C T rs776716381 CCDC170 Nonsynonymous SNV R176C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 210596 chr6 152454556 152454556 A G rs139834542 SYNE1 Nonsynonymous SNV L797P 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 210597 chr10 88422177 88422177 G C OPN4 Synonymous SNV S414S 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 5.757 210598 chr6 152640097 152640097 G A SYNE1 Synonymous SNV L5359L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 210599 chr6 152646235 152646235 G A rs367744351 SYNE1 Nonsynonymous SNV T5143M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 210600 chr7 100859535 100859535 G A rs758081027 PLOD3 Synonymous SNV L137L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.41 210601 chr13 24330731 24330731 T G rs749541952 MIPEP Nonsynonymous SNV E666A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 210602 chr7 107545916 107545916 G A rs150630885 DLD Synonymous SNV T84T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 15.13 210603 chr6 158922796 158922796 A G rs780163148 TULP4 Nonsynonymous SNV M701V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 210604 chr11 103114482 103114482 C A rs368644023 DYNC2H1 Nonsynonymous SNV H3294N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 210605 chr7 123257654 123257654 A G ASB15 Nonsynonymous SNV E105G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 210606 chr1 1168229 1168229 C T B3GALT6 Nonsynonymous SNV R191C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 210607 chr16 3613437 3613437 G T rs370250460 NLRC3 Synonymous SNV R501R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.264 210608 chr16 3614971 3614971 C T rs199475933 NLRC3 Nonsynonymous SNV E23K 0 0 0 1 0 0 0.003 0 0 0 0 0 not provided 19.67 210609 chr17 7612517 7612517 G A EFNB3 Nonsynonymous SNV A216T 0.005 0 0 1 6 0 0.003 0 0 0 0 0 11.99 210610 chr6 168709304 168709304 C T rs200186315 DACT2 Nonsynonymous SNV R208Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 210611 chr7 138453553 138453553 G A rs200954029 ATP6V0A4 Nonsynonymous SNV P88L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.8 210612 chr1 12091351 12091351 C T rs200255049 MIIP Nonsynonymous SNV P324L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 210613 chr1 1226878 1226878 C T rs201290347 SCNN1D Nonsynonymous SNV P766L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.023 210614 chr16 50325655 50325655 C T ADCY7 Synonymous SNV F128F 0 0 0 2 0 0 0.005 0 0 0 0 0 14.74 210615 chr16 53860264 53860264 G C rs766461936 FTO Synonymous SNV L178L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.018 210616 chr13 52345476 52345476 C T DHRS12 Nonsynonymous SNV E239K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.783 210617 chr1 145440921 145440921 T C rs142683989 TXNIP Synonymous SNV D281D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 0.235 210618 chr1 145440941 145440941 G A rs72563166 TXNIP Nonsynonymous SNV R288Q 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Benign 23.5 210619 chr17 78085884 78085884 C T rs909561836 GAA Nonsynonymous SNV A580V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 210620 chr1 145567084 145567084 A G rs16827032 ANKRD35 Nonsynonymous SNV N888D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.3 210621 chr1 145585518 145585518 A C rs112103191 PIAS3 Nonsynonymous SNV S595R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 26.3 210622 chr1 145586839 145586839 C T rs16827062 NUDT17 Synonymous SNV K283K 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 17.8 210623 chr16 57416374 57416374 C G rs143145386 CX3CL1 Nonsynonymous SNV S123R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.659 210624 chr10 73544663 73544663 C T rs145951744 CDH23 Nonsynonymous SNV R1840W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 210625 chr10 74621486 74621486 C T rs184385695 MCU Synonymous SNV T182T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.431 210626 chr10 115603962 115603962 C G DCLRE1A Nonsynonymous SNV G807A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 29.6 210627 chr10 115603963 115603963 C A DCLRE1A Nonsynonymous SNV G807C 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 34 210628 chr7 143748124 143748124 G A rs372854651 OR2A5 Synonymous SNV P210P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.141 210629 chr10 115603964 115603964 A T DCLRE1A Nonsynonymous SNV N806K 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 27 210630 chr17 78338302 78338302 C T rs144664526 RNF213 Synonymous SNV R3940R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.71 210631 chr16 57847696 57847696 G A LOC388282 Synonymous SNV S66S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.781 210632 chr13 86370317 86370317 A G rs35119660 SLITRK6 Synonymous SNV N109N 0.007 0.01 0.003 7 8 4 0.018 1 0 0 0 0 Benign 0.034 210633 chr13 86370422 86370422 G A rs35342386 SLITRK6 Synonymous SNV N74N 0.007 0.01 0.003 7 8 4 0.018 1 0 0 0 0 Benign 1.081 210634 chr13 86370571 86370571 G A rs12863734 SLITRK6 Nonsynonymous SNV L25F 0.007 0.01 0.003 7 8 4 0.018 1 0 0 0 0 Benign/Likely benign 1.404 210635 chr17 79060284 79060284 C T rs140045781 BAIAP2 Synonymous SNV G131G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.81 210636 chr10 75394462 75394462 C A rs144795054 MYOZ1 Synonymous SNV V94V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 210637 chr10 75407882 75407882 A G rs185248935 SYNPO2L Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 210638 chr10 75529418 75529418 C T rs113203770 SEC24C Nonsynonymous SNV T870M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 210639 chr1 151337060 151337060 G A rs200461485 SELENBP1 Nonsynonymous SNV R398C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 35 210640 chr10 75673314 75673314 C T rs765285707 PLAU Nonsynonymous SNV P143S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 210641 chr11 121495816 121495816 A T rs140327834 SORL1 Nonsynonymous SNV D2065V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 25.5 210642 chr1 151499465 151499465 G A rs139748542 CGN Nonsynonymous SNV R593Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.2 210643 chr10 121431808 121431808 C G rs112929734 BAG3 Synonymous SNV S183S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.16 210644 chr10 121569686 121569686 T C rs140169637 INPP5F Synonymous SNV Y548Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.391 210645 chr1 151811252 151811252 C T rs769007185 C2CD4D Nonsynonymous SNV A72T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.699 210646 chr17 79257223 79257223 G T rs138694564 SLC38A10 Nonsynonymous SNV L115M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 210647 chr10 82363436 82363436 G T rs760680057 SH2D4B Nonsynonymous SNV V200F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 210648 chr16 67976809 67976809 C T rs199560940 LCAT Nonsynonymous SNV G128S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 32 210649 chr17 80373470 80373470 C T rs549112029 OGFOD3 Synonymous SNV Q36Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.274 210650 chr17 8048287 8048287 G A rs746932415 PER1 Nonsynonymous SNV P748L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 22.3 210651 chr10 86273206 86273206 C A CCSER2 Nonsynonymous SNV P203H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 210652 chr10 86273610 86273610 G T CCSER2 Nonsynonymous SNV V338L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.935 210653 chr16 705313 705313 G A rs375470273 WDR90 Synonymous SNV A521A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.48 210654 chr7 151846048 151846048 G A rs587778511 KMT2C Nonsynonymous SNV P4322S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 not provided 23.6 210655 chr16 71417307 71417307 C T rs138229238 CALB2 Nonsynonymous SNV P146L 0 0 0 2 0 0 0.005 0 0 0 0 0 20.7 210656 chr7 31123784 31123784 G A rs375886816 ADCYAP1R1 Synonymous SNV T98T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.06 210657 chr10 131934747 131934747 G C rs13991 GLRX3 Nonsynonymous SNV Q21H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.19 210658 chr8 2796194 2796194 G A rs542330902 CSMD1 Synonymous SNV N3536N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.758 210659 chr1 1567649 1567649 C G MMP23B Nonsynonymous SNV R18G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.19 210660 chr10 96334407 96334407 A C rs750145958 HELLS Synonymous SNV R130R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 210661 chr7 40356437 40356437 A G rs569109110 SUGCT Nonsynonymous SNV S226G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 210662 chr16 81208512 81208512 A C rs199798228 PKD1L2 Nonsynonymous SNV L179R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.026 210663 chr7 43477646 43477646 G A rs188917781 HECW1 Synonymous SNV E282E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.782 210664 chr11 133796922 133796922 A G IGSF9B Nonsynonymous SNV W566R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 210665 chr8 8998743 8998743 A T PPP1R3B Nonsynonymous SNV L140H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 210666 chr10 97752384 97752384 G A rs151227972 CC2D2B Nonsynonymous SNV G858R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 210667 chr18 2769780 2769780 C T rs147034750 SMCHD1 Nonsynonymous SNV T1603I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.17 210668 chr7 47436407 47436407 T G rs527670320 TNS3 Synonymous SNV A338A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 7.98 210669 chr18 29867330 29867330 C T rs146498252 GAREM1 Synonymous SNV G410G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.11 210670 chr11 18736099 18736099 A C rs773290445 IGSF22 Nonsynonymous SNV V535G 0 0 0.003 0 0 0 0 1 0 0 0 0 24 210671 chr11 617542 617542 G A rs764278187 CDHR5 Nonsynonymous SNV R589W 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 31 210672 chr18 34261407 34261407 C T rs199579476 FHOD3 Nonsynonymous SNV P440L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 210673 chr18 44104697 44104697 G T rs75949023 LOXHD1 Synonymous SNV R365R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.492 210674 chr11 27390585 27390585 G T rs538451022 LGR4 Nonsynonymous SNV T538K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 210675 chr11 292644 292644 G A rs371810242 PGGHG Synonymous SNV V375V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.915 210676 chr1 167096291 167096291 G T DUSP27 Nonsynonymous SNV Q641H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 210677 chr1 16731492 16731492 C T SPATA21 Nonsynonymous SNV E238K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 210678 chr7 76825818 76825818 A G rs140799198 FGL2 Synonymous SNV Y366Y 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.015 210679 chr16 89260194 89260194 C T rs995512954 CDH15 Nonsynonymous SNV P675L 0 0 0 2 0 0 0.005 0 0 0 0 0 33 210680 chr8 26722295 26722295 G T ADRA1A Stop gain Y64X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 210681 chr8 27379960 27379960 C T rs149762241 EPHX2 Synonymous SNV F265F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 210682 chr12 124887059 124887061 GCT - rs753830534 NCOR2 Q509del 0 0 0 1 0 0 0.003 0 0 0 0 0 210683 chr12 124887061 124887061 - GCT NCOR2 Q509_P510insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 210684 chr10 120802160 120802160 G A rs762264416 EIF3A Nonsynonymous SNV P958S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.9 210685 chr8 41790660 41790660 G T rs769417965 KAT6A Nonsynonymous SNV P1693Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.053 210686 chr10 123846263 123846263 C T rs186111089 TACC2 Synonymous SNV F1416F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 210687 chr11 4790833 4790833 A C rs751213449 OR51F1 Nonsynonymous SNV F112L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 210688 chr1 178802632 178802632 G A RALGPS2 Nonsynonymous SNV R185K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 210689 chr12 132628753 132628753 C G DDX51 Nonsynonymous SNV R30T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.58 210690 chr10 127668751 127668751 C T rs17153879 FANK1 Nonsynonymous SNV P12L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 30 210691 chr10 127697997 127697997 G T rs17153976 FANK1 Nonsynonymous SNV C337F 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 7.509 210692 chr18 74962810 74962810 G A rs5375 GALR1 Synonymous SNV V102V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.25 210693 chr11 2683261 2683261 C A rs778041701 KCNQ1 Nonsynonymous SNV D488E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 12.47 210694 chr17 18024377 18024377 T C MYO15A Nonsynonymous SNV F755L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.155 210695 chr11 2950273 2950273 G A PHLDA2 Stop gain Q108X 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 35 210696 chr10 129906569 129906569 G A MKI67 Nonsynonymous SNV P819S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.064 210697 chr8 86241942 86241942 C G rs377158037 CA1 Nonsynonymous SNV E102D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 210698 chr17 18164475 18164475 G A rs117304413 MIEF2 Nonsynonymous SNV R9K 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12 210699 chr11 4108060 4108060 G A rs562406813 STIM1 Nonsynonymous SNV A610T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 13.28 210700 chr1 196285151 196285151 T G rs923381157 KCNT2 Nonsynonymous SNV D711A 0.001 0 0 0 1 0 0 0 0 0 0 0 33 210701 chr14 77493813 77493815 TGT - rs781248415 IRF2BPL Q127del 0 0.003 0 2 0 1 0.005 0 0 0 0 0 210702 chr19 10528522 10528522 A T rs561419660 PDE4A Nonsynonymous SNV T79S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.421 210703 chr19 10793290 10793290 C T rs190815573 ILF3 Synonymous SNV T486T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 210704 chr17 27383272 27383272 G A rs772317656 PIPOX Synonymous SNV L374L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.68 210705 chr14 93273109 93273109 T C rs368103367 GOLGA5 Synonymous SNV H191H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.06 210706 chr11 608273 608273 G T PHRF1 Nonsynonymous SNV E939D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.031 210707 chr7 103969365 103969365 C T rs74583671 LHFPL3 Synonymous SNV C46C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.8 210708 chr7 105250980 105250980 C T rs182409100 ATXN7L1 Nonsynonymous SNV R724Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 210709 chr17 30536391 30536391 C T rs144578639 RHOT1 Nonsynonymous SNV L588F 0 0.005 0 2 0 2 0.005 0 0 0 0 0 7.65 210710 chr17 30791069 30791069 C T rs143910284 PSMD11 Synonymous SNV V107V 0 0 0 2 0 0 0.005 0 0 0 0 0 8.475 210711 chr8 125565777 125565777 G A MTSS1 Nonsynonymous SNV T510I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 210712 chr17 33749583 33749583 T C SLFN12 Synonymous SNV R155R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.284 210713 chr17 34854238 34854238 C T rs760366831 MYO19 Nonsynonymous SNV V677I 0 0 0 2 0 0 0.005 0 0 0 0 0 1.308 210714 chr11 6566833 6566833 C A DNHD1 Nonsynonymous SNV A1555D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.22 210715 chr17 35993348 35993348 G A rs145856014 DDX52 Synonymous SNV S129S 0 0 0 2 0 0 0.005 0 0 0 0 0 12.78 210716 chr7 129311285 129311285 C T rs146404476 NRF1 Synonymous SNV A80A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.3 210717 chr19 15918538 15918540 AGA - rs746844709 OR10H1 F103del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 210718 chr11 7981560 7981560 G A rs776601748 NLRP10 Synonymous SNV F533F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 4.177 210719 chr8 144942329 144942329 C T rs375880231 EPPK1 Nonsynonymous SNV R1698H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 210720 chr11 5798940 5798940 T C rs897994510 OR52N5 Nonsynonymous SNV I309V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 210721 chr1 22150639 22150639 C T rs141280063 HSPG2 Nonsynonymous SNV E4293K 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 210722 chr7 141955431 141955431 T G PRSS58 Nonsynonymous SNV K35Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 210723 chr11 12495320 12495320 C T rs368993521 PARVA Synonymous SNV N55N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.52 210724 chr19 18391796 18391798 CGG - rs777061214 JUND A123del 0.001 0 0 0 1 0 0 0 0 0 0 0 210725 chr15 33446429 33446429 G C rs750940066 FMN1 Synonymous SNV S229S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.003 210726 chr11 18636831 18636831 G T rs760220402 SPTY2D1 Nonsynonymous SNV S330R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 5.872 210727 chr19 19136661 19136661 G A rs200102318 SUGP2 Nonsynonymous SNV P166S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.53 210728 chr1 225394789 225394789 C T rs368687409 DNAH14 Synonymous SNV D2102D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 210729 chr19 19312335 19312335 C T rs889602864 NR2C2AP Nonsynonymous SNV R151K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.237 210730 chr19 21129153 21129153 A T ZNF85 Nonsynonymous SNV I93F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.03 210731 chr9 2718033 2718033 G A KCNV2 Synonymous SNV T98T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.973 210732 chr11 21555938 21555938 A C rs201683742 NELL1 Nonsynonymous SNV E498A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.45 210733 chr15 41796429 41796429 A C rs762109337 LTK Nonsynonymous SNV L657R 0 0 0 3 0 0 0.008 0 0 0 0 0 25.5 210734 chr11 28119422 28119422 C T rs745466755 KIF18A Nonsynonymous SNV E25K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 33 210735 chr17 41001183 41001183 C T AOC2 Nonsynonymous SNV R557C 0.001 0 0 4 1 0 0.01 0 0 0 0 0 26 210736 chr17 41061397 41061397 C T G6PC Nonsynonymous SNV A175V 0 0 0 3 0 0 0.008 0 0 0 0 0 32 210737 chr11 62293155 62293155 G C AHNAK Nonsynonymous SNV P2912A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 210738 chr15 42678451 42678451 A G rs780611743 CAPN3 Nonsynonymous SNV I156V 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 14 210739 chr15 42695133 42695133 A G rs146845466 CAPN3 Nonsynonymous SNV T48A 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 27.1 210740 chr15 43658998 43658998 A T rs763775948 ZSCAN29 Nonsynonymous SNV F178I 0 0 0 3 0 0 0.008 0 0 0 0 0 11.88 210741 chr1 229641895 229641895 T C rs578094869 NUP133 Nonsynonymous SNV T65A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 210742 chr19 33464195 33464195 G A rs367939215 FAAP24 Synonymous SNV A31A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.772 210743 chr7 158438245 158438245 C T rs1023392617 NCAPG2 Synonymous SNV T1082T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 210744 chr11 5566167 5566167 G A rs780942262 OR52H1 Nonsynonymous SNV A196V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 210745 chr15 49048619 49048619 G A rs200733310 CEP152 Synonymous SNV N942N 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.392 210746 chr12 6972420 6972420 G C USP5 Nonsynonymous SNV E611D 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 210747 chr15 50521160 50521160 G A rs145639775 SLC27A2 Synonymous SNV V439V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.67 210748 chr11 5842308 5842308 G A rs751167086 OR52N2 Nonsynonymous SNV C248Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 210749 chr11 65268480 65268480 T - rs72004824 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 210750 chr19 36297981 36297981 G - rs755582106 PRODH2 L290Sfs*31 0.002 0 0 0 2 0 0 0 0 0 0 0 210751 chr17 48562112 48562112 C T rs375677855 RSAD1 Nonsynonymous SNV R407W 0 0 0 2 0 0 0.005 0 0 0 0 0 35 210752 chr12 89744429 89744429 G T rs1039662855 DUSP6 Synonymous SNV I258I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 210753 chr15 63889923 63889923 T G rs149590841 FBXL22 Nonsynonymous SNV F111C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 210754 chr15 63966772 63966772 C T rs200745033 HERC1 Nonsynonymous SNV A2539T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.3 210755 chr11 67075354 67075354 G A rs61737055 SSH3 Nonsynonymous SNV A277T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 210756 chr8 21767296 21767296 C A DOK2 Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 210757 chr8 21959804 21959804 G C rs756937687 FAM160B2 Nonsynonymous SNV S656T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 210758 chr19 38742948 38742948 C G rs150002510 PPP1R14A Nonsynonymous SNV E78Q 0.002 0 0 0 2 0 0 0 0 0 0 0 16.79 210759 chr17 54554951 54554951 G C ANKFN1 Nonsynonymous SNV V629L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 28.3 210760 chr11 68177585 68177585 G A rs140955013 LRP5 Synonymous SNV S184S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.07 210761 chr8 22481492 22481492 G A rs749714828 BIN3 Nonsynonymous SNV P136L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 210762 chr8 22548118 22548118 G C rs149624410 EGR3 Synonymous SNV R306R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.315 210763 chr12 98927281 98927281 A G rs11838270 TMPO Nonsynonymous SNV K416E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.036 210764 chr11 9100946 9100946 C T rs775371385 SCUBE2 Nonsynonymous SNV G123S 0.003 0 0 0 3 0 0 0 0 0 0 0 35 210765 chr17 57106034 57106034 G A rs312262702 TRIM37 Stop gain R513X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 210766 chr17 59482091 59482091 G A TBX2 Nonsynonymous SNV G338S 0 0 0 2 0 0 0.005 0 0 0 0 0 18.7 210767 chr8 23559975 23559975 T C rs564297816 NKX2-6 Nonsynonymous SNV R299G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 23.5 210768 chr8 24187586 24187586 G A rs145612420 ADAM28 Nonsynonymous SNV C354Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 210769 chr11 55587812 55587812 G A rs199726652 OR5D18 Nonsynonymous SNV R236H 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 6.42 210770 chr8 27301737 27301737 G A PTK2B Synonymous SNV K721K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 210771 chr11 72412809 72412809 C T rs142752859 ARAP1 Synonymous SNV S423S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 17.95 210772 chr15 75645005 75645005 G A rs764644022 NEIL1 Synonymous SNV E313E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 210773 chr11 17618546 17618546 G A rs116947228 OTOG Nonsynonymous SNV R1237H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.7 210774 chr8 30034668 30034668 C T rs150097533 DCTN6 Nonsynonymous SNV T74I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.2 210775 chr8 30724930 30724930 T C rs975295650 TEX15 Nonsynonymous SNV I131V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.698 210776 chr17 6348622 6348622 C T rs537779074 PIMREG Synonymous SNV R64R 0 0 0 2 0 0 0.005 0 0 0 0 0 12.1 210777 chr8 36780081 36780081 T G KCNU1 Nonsynonymous SNV H890Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 210778 chr8 37690721 37690721 G A rs117702342 ADGRA2 Nonsynonymous SNV V431M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 210779 chr8 37732696 37732696 T C RAB11FIP1 Nonsynonymous SNV N320S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 210780 chr8 39777621 39777621 C T rs61753677 IDO1 Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 210781 chr8 41552814 41552814 T C rs754199993 ANK1 Nonsynonymous SNV H999R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 210782 chr8 42188489 42188489 G T rs202054179 IKBKB Nonsynonymous SNV A753S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.27 210783 chr8 52321838 52321838 C T PXDNL Synonymous SNV L782L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.789 210784 chr11 27384645 27384645 A G rs148148110 CCDC34 Nonsynonymous SNV C33R 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.823 210785 chr9 116931371 116931371 G A rs370622268 COL27A1 Synonymous SNV S512S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.46 210786 chr11 32112847 32112847 A T RCN1 Nonsynonymous SNV K35N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 210787 chr11 82611443 82611443 A G rs143240446 PRCP Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 210788 chr8 68115347 68115347 T C rs745494130 ARFGEF1 Nonsynonymous SNV N1700S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 210789 chr11 36467976 36467976 T - PRR5L L191Cfs*33 0.002 0 0 1 2 0 0.003 0 0 0 0 0 210790 chr17 72356227 72356227 G A rs770669630 BTBD17 Synonymous SNV H81H 0 0 0 2 0 0 0.005 0 0 0 0 0 8.933 210791 chr11 88911510 88911510 A T rs966882228 TYR Nonsynonymous SNV E130V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 27.4 210792 chr11 56310189 56310189 G A rs200285217 OR5M11 Nonsynonymous SNV P182L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23 210793 chr11 92622387 92622387 A G rs78670525 FAT3 Nonsynonymous SNV N4362D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.04 210794 chr8 92982952 92982952 G A rs187239022 RUNX1T1 Synonymous SNV A454A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 210795 chr8 98290012 98290012 C A rs79679520 TSPYL5 Nonsynonymous SNV A21S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.3 210796 chr9 128074810 128074810 G T rs776750598 GAPVD1 Nonsynonymous SNV Q507H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 210797 chr9 130494514 130494514 G A rs758069979 TOR2A Nonsynonymous SNV R51C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.32 210798 chr17 7460150 7460150 T G rs770924960 TNFSF12, TNFSF12-TNFSF13 Synonymous SNV P143P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 6.964 210799 chr12 102164845 102164845 T C rs757123160 GNPTAB Nonsynonymous SNV M288V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 210800 chr8 102678859 102678859 G C rs61732855 GRHL2 Synonymous SNV S586S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.88 210801 chr1 41976487 41976487 C G rs769261365 HIVEP3 Nonsynonymous SNV G2285R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 210802 chr9 132084370 132084370 T C rs1042591405 C9orf106 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.81 210803 chr16 129563 129563 G A rs770066740 MPG Nonsynonymous SNV R55H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.806 210804 chr14 100847490 100847490 C T rs932959654 WDR25 Nonsynonymous SNV R77C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.7 210805 chr17 76798437 76798437 G A rs368705721 USP36 Synonymous SNV S997S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 8.864 210806 chr14 101347358 101347358 C T rs769592859 RTL1 Synonymous SNV S1256S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 19.39 210807 chr12 110205905 110205905 G A rs142027035 FAM222A Synonymous SNV P57P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.162 210808 chr17 7762832 7762832 C T rs62059715 CYB5D1 Nonsynonymous SNV R197W 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 23.4 210809 chr17 7792359 7792359 A G CHD3 Nonsynonymous SNV K14R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.28 210810 chr12 111776238 111776238 C T rs200333006 CUX2 Synonymous SNV N1053N 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 13.16 210811 chr12 112339273 112339273 G A rs192124639 ADAM1A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.987 210812 chr17 78188446 78188446 G A rs75828254 SGSH Synonymous SNV L158L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 8.224 210813 chr17 78389046 78389046 A C rs372405906 ENDOV Nonsynonymous SNV K18Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12 210814 chr12 113770679 113770679 G T SLC8B1 Nonsynonymous SNV A2D 0 0 0.003 0 0 0 0 1 0 0 0 0 23 210815 chr17 79095204 79095204 C T rs189184064 AATK Synonymous SNV L741L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 4.163 210816 chr16 2029471 2029471 C T rs761744532 NOXO1 Nonsynonymous SNV R262H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.1 210817 chr16 2817526 2817526 C G rs376916157 SRRM2 Nonsynonymous SNV P2333A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.793 210818 chr8 144733484 144733484 A G rs368091213 ZNF623 Nonsynonymous SNV H481R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 210819 chr1 5987759 5987759 C T NPHP4 Nonsynonymous SNV A9T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.492 210820 chr11 65409843 65409843 A G SIPA1 Nonsynonymous SNV T268A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24.6 210821 chr16 3487257 3487257 G A ZNF597 Nonsynonymous SNV P148S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.246 210822 chr12 123062220 123062220 G T rs776931208 KNTC1 Nonsynonymous SNV G908V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 210823 chr16 3615015 3615015 G A rs529379655 NLRC3 Nonsynonymous SNV T8M 0 0 0 1 0 0 0.003 0 0 0 0 0 5.332 210824 chr12 123497210 123497213 TTTT - PITPNM2 E121Afs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 210825 chr12 123497213 123497213 - GGGG PITPNM2 Frameshift insertion E121Afs*35 0 0 0.003 0 0 0 0 1 0 0 0 0 210826 chr1 62916503 62916503 G A rs144817155 USP1 Nonsynonymous SNV V737M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.35 210827 chr17 80919055 80919055 G A rs767626973 B3GNTL1 Synonymous SNV G23G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.661 210828 chr1 63069711 63069711 T C rs12563308 ANGPTL3 Synonymous SNV L335L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.705 210829 chr8 144997890 144997890 C T PLEC Synonymous SNV L2055L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.219 210830 chr16 4723552 4723552 C T rs199504452 MGRN1 Synonymous SNV S283S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 18.98 210831 chr1 6662057 6662057 G A rs2232455 KLHL21 Nonsynonymous SNV P274L 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 15.13 210832 chr8 145532666 145532666 C T rs782640073 HSF1 Synonymous SNV N64N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 210833 chr18 10791205 10791205 C T rs374065932 PIEZO2 Nonsynonymous SNV E626K 0 0 0 2 0 0 0.005 0 0 0 0 0 22.1 210834 chr12 132853913 132853913 C T rs28395305 LOC100130238 0 0 0.007 0 0 0 0 2 0 0 0 0 8.635 210835 chr19 53453422 53453422 - T rs745800052 ZNF816 Frameshift insertion P536Tfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 210836 chr12 133196031 133196031 A T P2RX2 Nonsynonymous SNV I38F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.399 210837 chr12 133360878 133360878 G C rs147677490 GOLGA3 Nonsynonymous SNV L1047V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 210838 chr18 22057526 22057526 A T HRH4 X303Y 0 0 0 2 0 0 0.005 0 0 0 0 0 23 210839 chr9 377180 377180 C T rs965001023 DOCK8 Synonymous SNV S735S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 210840 chr19 55417987 55417987 G A rs35676942 NCR1 Synonymous SNV Q59Q 0.008 0.003 0.014 3 9 1 0.008 4 0 0 0 0 0.979 210841 chr10 22498259 22498259 C G rs16922091 EBLN1 Synonymous SNV A218A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.916 210842 chr10 22498295 22498295 C T rs116468417 EBLN1 Nonsynonymous SNV M206I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.491 210843 chr11 63885006 63885006 G A rs914995407 FLRT1 Nonsynonymous SNV D423N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 210844 chr10 23729523 23729523 G A rs1511822 OTUD1 Synonymous SNV P379P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.272 210845 chr9 20413813 20413813 G A rs78515495 MLLT3 Nonsynonymous SNV T341I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.42 210846 chr9 21304976 21304976 T C IFNA5 Nonsynonymous SNV K94E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 210847 chr16 27752151 27752151 C T rs148132134 KIAA0556 Nonsynonymous SNV P845S 0 0 0 2 0 0 0.005 0 0 0 0 0 1.47 210848 chr18 43505712 43505712 C T rs754355395 EPG5 Nonsynonymous SNV A904T 0 0 0 2 0 0 0.005 0 0 0 0 0 5.852 210849 chr11 85445748 85445748 T C SYTL2 Synonymous SNV A207A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 0.008 210850 chr18 43668178 43668178 G A rs59386231 ATP5F1A Synonymous SNV F182F 0 0 0 2 0 0 0.005 0 0 0 0 0 12.25 210851 chr19 55914315 55914315 C T rs1051601585 RPL28 Nonsynonymous SNV A110V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 210852 chr1 92442672 92442672 T G BRDT Nonsynonymous SNV F185V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 210853 chr9 34220923 34220923 A G UBAP1 Nonsynonymous SNV R82G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 210854 chr19 56030255 56030255 C T rs952221512 SSC5D Synonymous SNV L1538L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.808 210855 chr18 47721144 47721144 T C rs190674457 MYO5B Nonsynonymous SNV Y7C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.22 210856 chr16 30680771 30680771 C T rs148249311 FBRS Synonymous SNV Y916Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.186 210857 chr11 64955470 64955470 C T CAPN1 Synonymous SNV N296N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 210858 chr14 59787262 59787262 A G rs145787738 DAAM1 Nonsynonymous SNV I134V 0 0 0 3 0 0 0.008 0 0 0 0 0 12.17 210859 chr11 65367043 65367043 T C rs570112119 MAP3K11 Synonymous SNV T676T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.135 210860 chr10 38121309 38121309 C T rs771989661 ZNF248 Nonsynonymous SNV R325H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.431 210861 chr1 97981407 97981407 C G rs142619737 DPYD Nonsynonymous SNV G539R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 210862 chr1 985171 985171 C T rs115019873 AGRN Synonymous SNV R1580R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.01 210863 chr1 985826 985826 G A rs17160775 AGRN Nonsynonymous SNV V1666I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.95 210864 chr1 99150610 99150610 G A rs61756174 SNX7 Nonsynonymous SNV R117K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.3 210865 chr20 10603719 10603719 C A rs770842467 SLX4IP Nonsynonymous SNV H307N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 210866 chr11 68201085 68201085 C T rs763184695 LRP5 Nonsynonymous SNV S679F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 210867 chr9 86571175 86571175 C G C9orf64 Nonsynonymous SNV E81Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 210868 chr14 69589027 69589027 A C DCAF5 Nonsynonymous SNV S89A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.41 210869 chr18 74208437 74208439 AGA - rs755922576 C18orf65 0 0.005 0 3 0 2 0.008 0 0 0 0 0 210870 chr18 74208440 74208440 - TTT rs766307602 C18orf65 0 0.005 0 3 0 2 0.008 0 0 0 0 0 210871 chr19 58863900 58863900 A G A1BG Nonsynonymous SNV L121P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 210872 chr11 73078685 73078685 G A rs143114785 ARHGEF17 Nonsynonymous SNV A2018T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.877 210873 chr9 96214808 96214808 T G rs564664349 FAM120AOS Synonymous SNV R62R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.124 210874 chr9 98270531 98270531 C G rs143494325 PTCH1 Nonsynonymous SNV G38A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.31 210875 chr9 98278958 98278958 - TTC rs112914470 PTCH1 E48_N49insE 0.001 0 0 0 1 0 0 0 0 0 0 0 210876 chr18 8819198 8819198 G A rs571648534 MTCL1 Nonsynonymous SNV E1033K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 210877 chr20 30136896 30136896 C T rs141906413 HM13 Synonymous SNV G173G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.03 210878 chr14 78063601 78063601 T C rs771876630 SPTLC2 Synonymous SNV G85G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 7.528 210879 chr12 64472710 64472710 G A rs61756190 SRGAP1 Synonymous SNV T379T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.16 210880 chr14 91804474 91804474 G A rs767030060 CCDC88C Nonsynonymous SNV R309C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 210881 chr14 93118145 93118145 C A rs147329151 RIN3 Nonsynonymous SNV Q176K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.875 210882 chr20 3651791 3651791 G T rs148007711 ADAM33 Nonsynonymous SNV T675N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.38 210883 chr10 86014101 86014101 T C rs201379107 RGR Nonsynonymous SNV F178L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 6.428 210884 chr19 12223872 12223872 T C ZNF788P Nonsynonymous SNV C504R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 210885 chr11 95825375 95825377 TGC - rs543548810 MAML2 Q621del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 210886 chr12 72070605 72070605 A C THAP2 Nonsynonymous SNV K135T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 210887 chr19 12878249 12878249 C T rs35979347 HOOK2 Nonsynonymous SNV V445M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.75 210888 chr19 8999428 8999428 G A rs371916065 MUC16 Nonsynonymous SNV P13583S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.84 210889 chr11 104872930 104872930 T C rs147871829 CASP5 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 210890 chr9 123779768 123779768 C G C5 Nonsynonymous SNV D586H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 210891 chr11 134026916 134026916 C T rs768568029 NCAPD3 Nonsynonymous SNV E1417K 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 15.76 210892 chr9 125330260 125330260 C T rs373426364 OR1L8 Nonsynonymous SNV R166H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 210893 chr9 125582824 125582824 C T rs149688506 PDCL Nonsynonymous SNV R149Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 210894 chr9 130511511 130511511 C T rs767967113 SH2D3C Nonsynonymous SNV R215H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 210895 chr15 38762600 38762600 A G FAM98B Synonymous SNV E175E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.801 210896 chr20 48807649 48807649 G A rs772304270 CEBPB Nonsynonymous SNV A4T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 210897 chr20 52198384 52198384 T C rs139246692 ZNF217 Nonsynonymous SNV S328G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 210898 chr15 40583223 40583223 G T rs140547653 PLCB2 Nonsynonymous SNV A996D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.34 210899 chr19 9435380 9435380 C T rs897333040 ZNF559 Synonymous SNV I20I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.088 210900 chr19 971949 971949 - GCA rs552779877 ARID3A S559_N560insS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 210901 chr12 8085693 8085693 T A rs751281784 SLC2A3 Synonymous SNV P53P 0 0.008 0 1 0 3 0.003 0 0 0 0 0 3.881 210902 chr13 113825992 113825992 A T rs146398692 PROZ Nonsynonymous SNV E259V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.1 210903 chr17 1637080 1637080 C - WDR81 I382Sfs*18 0 0 0 2 0 0 0.005 0 0 0 0 0 210904 chr15 42139993 42139993 C T rs756123608 JMJD7-PLA2G4B, PLA2G4B Stop gain Q761X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 210905 chr1 109793433 109793433 C T rs147986274 CELSR2 Synonymous SNV A244A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 14.45 210906 chr9 135277024 135277024 C T rs763235588 TTF1 Synonymous SNV T395T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 210907 chr9 135977400 135977400 G A rs35831936 RALGDS Synonymous SNV A657A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.27 210908 chr9 136029312 136029312 G A rs34691037 GBGT1 Nonsynonymous SNV T226M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.017 210909 chr13 28971113 28971113 T C rs148479824 FLT1 Nonsynonymous SNV I548M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.48 210910 chr1 111494032 111494032 C T rs762075700 LRIF1 Nonsynonymous SNV V492I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.24 210911 chr15 42986109 42986109 A G STARD9 Synonymous SNV Q4111Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.34 210912 chr17 3539361 3539361 C G SHPK Synonymous SNV A51A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.47 210913 chr17 3558642 3558642 A G CTNS Nonsynonymous SNV K153E 0 0 0 2 0 0 0.005 0 0 0 0 0 29.2 210914 chr13 32953550 32953550 G A rs11571769 BRCA2 Nonsynonymous SNV A2951T 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 29.5 210915 chr15 43044384 43044384 G A rs55735086 TTBK2 Synonymous SNV L1020L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.62 210916 chr13 33716498 33716498 C T rs150393478 STARD13 Synonymous SNV T104T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.76 210917 chr11 125880374 125880374 G C rs750020763 CDON Nonsynonymous SNV P472A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 18.67 210918 chr12 12397363 12397363 T C rs764576053 LRP6 Synonymous SNV L94L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 3.002 210919 chr15 44962037 44962037 C T rs140098598 PATL2 Nonsynonymous SNV V83M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.2 210920 chr13 40238184 40238185 AG - MIR4305 0 0 0.003 0 0 0 0 1 0 0 0 0 210921 chr9 139265392 139265392 C T rs547043978 CARD9 Synonymous SNV K176K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 210922 chr12 19408017 19408017 G A rs144183813 PLEKHA5 Nonsynonymous SNV R9Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 25.6 210923 chr12 19436661 19436661 C A rs768668705 PLEKHA5 Nonsynonymous SNV H473Q 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.3 210924 chr10 126715336 126715336 A C rs142101185 CTBP2 Synonymous SNV S331S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 210925 chr13 50134220 50134220 T A rs753422733 RCBTB1 Nonsynonymous SNV D93V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 210926 chr19 33701508 33701508 G A rs751102281 SLC7A10 Synonymous SNV A376A 0 0 0 2 0 0 0.005 0 0 0 0 0 9.359 210927 chr13 52511807 52511807 G A ATP7B Synonymous SNV I1029I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 210928 chr9 140005147 140005147 G A rs144785203 DPP7 Nonsynonymous SNV R478C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.84 210929 chr12 27849972 27849972 C T rs372415252 REP15 Synonymous SNV C159C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 12.11 210930 chr21 27945200 27945200 G C rs769914396 CYYR1 Synonymous SNV L20L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 210931 chr21 30318559 30318559 T C rs750398826 LTN1 Nonsynonymous SNV I1166V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 210932 chr21 30961339 30961339 C T rs554867662 GRIK1 Synonymous SNV R306R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 210933 chr17 7010598 7010598 C T rs141855221 ASGR2 Nonsynonymous SNV V136M 0 0 0 2 0 0 0.005 0 0 0 0 0 7.922 210934 chr13 88329580 88329580 C T SLITRK5 Nonsynonymous SNV T646I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 210935 chr12 5963284 5963284 A T ANO2 Nonsynonymous SNV F186L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 210936 chr1 1334664 1334672 GCCGCCGCC - rs780732270 CCNL2 A6_A8del 0.002 0 0 0 2 0 0 0 0 0 0 0 210937 chr12 6427076 6427076 C T rs764101649 PLEKHG6 Synonymous SNV G325G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.45 210938 chr19 36435624 36435624 G C rs752095574 LRFN3 Synonymous SNV P530P 0 0 0 3 0 0 0.008 0 0 0 0 0 1.265 210939 chr12 40728888 40728888 T C LRRK2 Synonymous SNV L1959L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 5.406 210940 chr12 6749277 6749277 C T rs149510028 ACRBP Synonymous SNV G458G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 210941 chr12 6976650 6976650 C T rs781949460 TPI1 Nonsynonymous SNV H11Y 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 7.973 210942 chr12 7045517 7045517 T C rs144583520 ATN1 Nonsynonymous SNV S363P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 210943 chr14 101416221 101416221 G A SNORD114-1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 210944 chr19 3730485 3730485 G A rs200607447 TJP3 Nonsynonymous SNV G132S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 210945 chr14 102963399 102963399 C T rs377631259 TECPR2 Synonymous SNV H1291H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.14 210946 chr12 7867862 7867862 C G rs141958540 DPPA3 Nonsynonymous SNV L56V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.101 210947 chr14 103576509 103576509 C T rs752095480 EXOC3L4 Synonymous SNV F706F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 210948 chr1 151146912 151146912 C T rs756311115 TMOD4 Nonsynonymous SNV V79I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.42 210949 chr1 151209116 151209116 G A rs746446850 PIP5K1A Nonsynonymous SNV S329N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.02 210950 chr12 9027033 9027033 A G rs7315591 A2ML1 Nonsynonymous SNV T921A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.123 210951 chr12 49054271 49054271 G C KANSL2 Nonsynonymous SNV Q369E 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.76 210952 chr12 9317889 9317889 A G rs141699672 PZP Nonsynonymous SNV L778P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 210953 chr12 50188597 50188597 C G NCKAP5L Nonsynonymous SNV A1016P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.2 210954 chr17 10296261 10296261 G C rs141215006 MYH8 Nonsynonymous SNV R1784G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 210955 chr14 105396368 105396368 T G rs745477313 PLD4 Nonsynonymous SNV S222A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 210956 chr21 43161385 43161385 G A rs574158826 RIPK4 Synonymous SNV L656L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.565 210957 chr1 152484195 152484195 C T rs746040721 LCE5A Nonsynonymous SNV S62F 0.003 0 0 0 3 0 0 0 0 0 0 0 17.64 210958 chr12 50400300 50400300 C T rs139702064 RACGAP1 Nonsynonymous SNV D11N 0.003 0.005 0 6 4 2 0.015 0 0 0 0 0 25 210959 chr17 10433181 10433181 C T rs143872329 MYH2 Nonsynonymous SNV V970I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 210960 chr14 105849825 105849825 C T PACS2 Synonymous SNV Y585Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 210961 chr11 792570 792570 G A rs145322467 SLC25A22 Synonymous SNV L190L 0.003 0.005 0.007 2 3 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.633 210962 chr21 43543114 43543114 - CCAT rs138728872 UMODL1 Frameshift insertion Q1059Hfs*85 0.001 0 0 0 1 0 0 0 0 0 0 0 210963 chr1 153935030 153935030 C T SLC39A1 Synonymous SNV R54R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.32 210964 chr21 44839280 44839280 C A rs746671842 SIK1, SIK1B Nonsynonymous SNV V400F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.5 210965 chr19 40719535 40719535 C T MAP3K10 Nonsynonymous SNV A650V 0 0 0 3 0 0 0.008 0 0 0 0 0 11.32 210966 chr1 155145732 155145732 C A KRTCAP2 Nonsynonymous SNV R16I 0.003 0 0 0 3 0 0 0 0 0 0 0 14.46 210967 chr17 17716759 17716759 G A rs142115026 SREBF1 Nonsynonymous SNV A1022V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 210968 chr19 40902973 40902973 A G rs776312092 PRX Nonsynonymous SNV V429A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.013 210969 chr21 46032204 46032204 C G rs200844181 KRTAP10-8 Nonsynonymous SNV P63A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.673 210970 chr17 18167468 18167468 G A rs190023411 MIEF2 Nonsynonymous SNV R252H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 210971 chr17 18881137 18881137 A C rs753405420 FAM83G Synonymous SNV S614S 0 0 0 5 0 0 0.013 0 0 0 0 0 0.001 210972 chr12 14829843 14829843 G A rs148946391 GUCY2C Nonsynonymous SNV T298M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 28.8 210973 chr19 41950099 41950099 A G ERICH4 Synonymous SNV P121P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.059 210974 chr14 23518351 23518351 G A CDH24 Synonymous SNV C577C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 210975 chr22 17589957 17589957 C T rs576301533 IL17RA Synonymous SNV G582G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 210976 chr14 24629499 24629499 C T rs377298249 RNF31 Synonymous SNV D865D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.13 210977 chr17 27010307 27010307 G A SUPT6H Nonsynonymous SNV A634T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 210978 chr1 16069526 16069526 G A rs778503614 TMEM82 Nonsynonymous SNV R58Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 210979 chr22 22890533 22890535 AGA - rs749673907 PRAME F479del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 210980 chr17 33801990 33801993 AAAC - rs532206571 SLFN12L L572Ffs*15 0.001 0 0 4 1 0 0.01 0 0 0 0 0 210981 chr12 49087746 49087746 T C rs561483800 CCNT1 Synonymous SNV Q417Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 210982 chr12 57872434 57872434 C A rs746212507 ARHGAP9 Nonsynonymous SNV R141S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 20.9 210983 chr10 69299307 69299307 A T CTNNA3 Nonsynonymous SNV L138H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 210984 chr1 167381292 167381292 C T rs770856432 POU2F1 Nonsynonymous SNV P488L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 210985 chr1 169505843 169505843 G A rs200569225 F5 Synonymous SNV L1624L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 210986 chr22 28194217 28194217 C A rs1030625906 MN1 Nonsynonymous SNV G772V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 210987 chr14 55241794 55241794 G A rs375678779 SAMD4A Nonsynonymous SNV V211I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 210988 chr22 28503968 28503968 C T TTC28 Nonsynonymous SNV R622Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 210989 chr22 30767172 30767172 C G rs1046038365 KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 1.507 210990 chr12 51584131 51584131 T C POU6F1 Nonsynonymous SNV K579E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 210991 chr16 1272282 1272283 TC - TPSG1 E190Dfs*54 0 0 0 1 0 0 0.003 0 0 0 0 0 210992 chr16 13297324 13297324 G A rs368074640 SHISA9 Synonymous SNV P255P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.75 210993 chr1 17292497 17292497 G A rs769419747 CROCC Nonsynonymous SNV E1527K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 210994 chr12 52307462 52307462 C T rs974875256 ACVRL1 Nonsynonymous SNV R145W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 210995 chr10 73050733 73050733 C T rs144553905 UNC5B Synonymous SNV V376V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 210996 chr22 31335994 31335994 A T rs755275051 MORC2 Synonymous SNV A313A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.65 210997 chr12 80887137 80887137 G A rs373744641 PTPRQ Synonymous SNV S309S 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 6.536 210998 chr10 75335404 75335404 T C USP54 Nonsynonymous SNV R5G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 210999 chr19 49131245 49131245 C T rs200932771 SPHK2 Synonymous SNV H189H 0 0 0 2 0 0 0.005 0 0 0 0 0 17.35 211000 chr19 49183676 49183676 G A rs3826840 SEC1P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.15 211001 chr12 91357942 91357942 G T rs761128801 EPYC Nonsynonymous SNV S320R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.77 211002 chr12 91502224 91502224 G A rs755542891 LUM Nonsynonymous SNV A178V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.07 211003 chr12 96379721 96379721 C T rs779523127 HAL Nonsynonymous SNV V183I 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 32 211004 chr14 73730937 73730937 C T rs371168771 PAPLN Synonymous SNV D960D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 211005 chr12 53320229 53320229 T C rs562522317 KRT8 Nonsynonymous SNV N2S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.859 211006 chr12 100751192 100751192 C T rs45610843 SLC17A8 Nonsynonymous SNV T8I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 19.98 211007 chr22 39710793 39710793 G A rs2228648 RPL3 Synonymous SNV R249R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.31 211008 chr14 76949047 76949047 T C rs755222989 ESRRB Synonymous SNV C244C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.824 211009 chr10 94824145 94824145 G A rs7917267 CYP26C1 Nonsynonymous SNV R238Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 211010 chr19 50905151 50905151 G A rs137953986 POLD1 Nonsynonymous SNV A145T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 20.6 211011 chr16 25232799 25232799 G A rs754887750 AQP8 Synonymous SNV A94A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.94 211012 chr19 51201123 51201123 T C rs779973784 SHANK1 Nonsynonymous SNV N613S 0 0 0 2 0 0 0.005 0 0 0 0 0 12.95 211013 chr14 91875070 91875070 T C CCDC88C Nonsynonymous SNV N68S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 211014 chr10 98146778 98146778 G A rs144302824 TLL2 Nonsynonymous SNV T595M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 211015 chr22 45127663 45127663 G A rs34850194 PRR5 Nonsynonymous SNV V31M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 211016 chr14 94936033 94936033 T G SERPINA9 Nonsynonymous SNV T49P 0 0 0.007 0 0 0 0 2 0 0 0 0 24 211017 chr14 94936036 94936036 T G SERPINA9 Nonsynonymous SNV N48H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.7 211018 chr12 116413013 116413013 G A rs780289109 MED13L Synonymous SNV I1898I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.68 211019 chr1 200784760 200784760 A G rs34505744 CAMSAP2 Synonymous SNV P211P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 6.995 211020 chr14 99924640 99924640 G A rs147700127 SETD3 Synonymous SNV Y217Y 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 3.169 211021 chr19 52447801 52447801 A G rs186770318 ZNF613 Nonsynonymous SNV H222R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.8 211022 chr12 122252028 122252028 G T SETD1B Nonsynonymous SNV G636V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 211023 chr12 10275908 10275908 G A rs140318683 CLEC7A Nonsynonymous SNV L104F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 26.2 211024 chr12 122618448 122618448 G A rs913991697 MLXIP Nonsynonymous SNV G549D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.39 211025 chr12 10339095 10339095 C T rs143637558 TMEM52B Nonsynonymous SNV R52C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 211026 chr16 4432475 4432475 G A rs756356989 VASN Nonsynonymous SNV V533I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.443 211027 chr12 81051791 81051791 C A rs1008592649 PTPRQ Nonsynonymous SNV A1876D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 211028 chr12 124298006 124298006 C T rs527953454 DNAH10 Nonsynonymous SNV S1029F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.47 211029 chr12 11214133 11214133 C T rs76020872 TAS2R46 Nonsynonymous SNV S254N 0.002 0 0.014 0 2 0 0 4 0 0 0 0 0.009 211030 chr12 11214137 11214137 C T rs76147157 TAS2R46 Nonsynonymous SNV E253K 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.061 211031 chr12 11214162 11214162 G A rs780329354 TAS2R46 Synonymous SNV S244S 0.005 0 0.014 0 6 0 0 4 0 0 0 0 2.894 211032 chr12 94132004 94132004 A G rs538500558 CRADD Synonymous SNV R109R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 211033 chr11 17632813 17632813 C G rs577901245 OTOG Nonsynonymous SNV A2001G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 211034 chr10 121658365 121658365 C T rs201464386 SEC23IP Nonsynonymous SNV A197V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 211035 chr1 210012319 210012319 C T rs114160793 UTP25 Synonymous SNV L376L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.5 211036 chr10 123996915 123996915 G A rs141377067 TACC2 Synonymous SNV E759E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 211037 chr12 109495731 109495731 G A rs151089144 USP30 Nonsynonymous SNV G65E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 211038 chr12 109700214 109700214 G A rs749821054 ACACB Nonsynonymous SNV D2243N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 211039 chr10 124390666 124390666 C T rs752930747 DMBT1 Nonsynonymous SNV S1315F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 211040 chr10 124600845 124600845 C T rs375448676 CUZD1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 211041 chr2 125671756 125671756 C T rs559244741 CNTNAP5 Nonsynonymous SNV T1272M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 211042 chr12 110765630 110765630 C T ATP2A2 Synonymous SNV A301A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 211043 chr2 128331573 128331573 G C MYO7B Nonsynonymous SNV S224T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 211044 chr16 67281308 67281308 C T FHOD1 Synonymous SNV A2A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.64 211045 chr17 73555406 73555406 G A rs376753735 LLGL2 Nonsynonymous SNV E149K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 211046 chr17 73751278 73751278 G A rs62088214 ITGB4 Synonymous SNV A1497A 0.003 0.003 0.003 3 4 1 0.008 1 0 0 0 0 17.08 211047 chr15 48758000 48758000 G A rs747757998 FBN1 Synonymous SNV T1601T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.67 211048 chr11 47354209 47354209 C T rs199669878 MYBPC3 Nonsynonymous SNV E1179K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.9 211049 chr19 56539847 56539847 G A rs61745533 NLRP5 Nonsynonymous SNV A750T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 0.355 211050 chr16 71668501 71668501 C G MARVELD3 Nonsynonymous SNV S334C 0 0 0 1 0 0 0.003 0 0 0 0 0 2.975 211051 chr10 134622112 134622112 G A rs142644767 CFAP46 Nonsynonymous SNV A2654V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.313 211052 chr1 223940528 223940528 T C rs28370081 CAPN2 Synonymous SNV Y257Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.292 211053 chr15 58001319 58001319 G A rs577777727 GCOM1, POLR2M Nonsynonymous SNV R174Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.145 211054 chr1 225533922 225533922 G A DNAH14 Nonsynonymous SNV S3646N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.607 211055 chr12 123024257 123024257 G A rs774369312 KNTC1 Nonsynonymous SNV R134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 211056 chr17 77923616 77923616 G A rs267605078 TBC1D16 Nonsynonymous SNV P61S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 211057 chr12 123751814 123751814 G A rs574785573 CDK2AP1 Nonsynonymous SNV S24L 0.002 0 0 0 2 0 0 0 0 0 0 0 24 211058 chr12 123780585 123780585 G A rs145112542 SBNO1 Nonsynonymous SNV P1351L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 211059 chr19 58198451 58198451 C T ZNF551 Stop gain Q242X 0 0 0.003 2 0 0 0.005 1 0 0 0 0 32 211060 chr15 65273300 65273300 T G SPG21 Synonymous SNV R43R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 211061 chr19 58906108 58906108 C A rs760298776 RPS5 Synonymous SNV S202S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 15.99 211062 chr15 65499170 65499170 C T rs139011656 CILP Nonsynonymous SNV R125Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.64 211063 chr1 228503817 228503817 C T OBSCN Stop gain R4428X 0.002 0 0 0 2 0 0 0 0 0 0 0 44 211064 chr11 400365 400365 C A PKP3 Nonsynonymous SNV Q494K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 211065 chr16 82132040 82132040 A G rs8191246 HSD17B2 X388W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.71 211066 chr16 83948686 83948686 G A rs377161125 MLYCD Synonymous SNV S358S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.14 211067 chr12 132322770 132322770 C G rs150305170 MMP17 Nonsynonymous SNV P64A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.6 211068 chr15 67279506 67279506 T C LOC102723493 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 211069 chr15 68119783 68119783 C G SKOR1 Synonymous SNV A539A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.975 211070 chr13 77750765 77750765 - A rs754771743 MYCBP2 0 0.003 0 0 0 1 0 0 0 0 0 0 211071 chr1 22965561 22965561 C T rs770609711 C1QA Synonymous SNV F133F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 211072 chr15 72190802 72190802 T G MYO9A Nonsynonymous SNV I1348L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 211073 chr1 230979141 230979141 C T C1orf198 Nonsynonymous SNV D166N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 211074 chr17 79782190 79782190 C T rs372784212 MCRIP1 Nonsynonymous SNV E34K 0 0 0 1 0 0 0.003 0 0 0 0 0 35 211075 chr2 171655384 171655384 G A rs544874022 ERICH2 Nonsynonymous SNV E151K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 211076 chr13 99061747 99061747 C T rs553250328 FARP1 Nonsynonymous SNV R524W 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 28.1 211077 chr13 20224376 20224376 G A rs778330655 MPHOSPH8 Nonsynonymous SNV V518M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.369 211078 chr15 75646190 75646190 C T rs773976636 NEIL1 Nonsynonymous SNV R363C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 211079 chr15 75722591 75722591 T C rs147020699 SIN3A Synonymous SNV E42E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.868 211080 chr1 236706871 236706871 C T rs142566127 LGALS8 Synonymous SNV F187F 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 12.56 211081 chr19 8145983 8145983 G A rs368557271 FBN3 Nonsynonymous SNV R2453W 0 0 0 2 0 0 0.005 0 0 0 0 0 27.3 211082 chr15 76632620 76632620 C A ISL2 Nonsynonymous SNV A172D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 211083 chr15 77425500 77425500 A G rs184477474 PEAK1 Synonymous SNV L1308L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.023 211084 chr18 3879673 3879673 G A rs375163425 DLGAP1 Synonymous SNV S132S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.653 211085 chr1 240256854 240256854 C T rs377670694 FMN2 Nonsynonymous SNV S482L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 211086 chr15 81633754 81633754 G A rs1037884248 TMC3 Synonymous SNV H607H 0 0 0.007 0 0 0 0 2 0 0 0 0 8.734 211087 chr15 85175308 85175308 C T rs189206657 SCAND2P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.477 211088 chr14 20404704 20404704 T C rs747900135 OR4K1 Synonymous SNV D293D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.023 211089 chr18 12264380 12264380 A G rs146015291 CIDEA Synonymous SNV T86T 0 0 0 2 0 0 0.005 0 0 0 0 0 3.452 211090 chr11 1025898 1025898 G A rs370064071 MUC6 Synonymous SNV N902N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.591 211091 chr16 89294197 89294197 G A rs565404494 ZNF778 Nonsynonymous SNV G473R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.9 211092 chr16 89346128 89346128 G A rs148730499 ANKRD11 Synonymous SNV P2274P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.385 211093 chr16 89347959 89347959 G A rs201160642 ANKRD11 Nonsynonymous SNV A1664V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.882 211094 chr11 57263541 57263541 T C rs202001356 SLC43A1 Nonsynonymous SNV I219V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 211095 chr13 41826862 41826862 C A rs375318709 MTRF1 Stop gain E206X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 211096 chr13 42179375 42179375 T C VWA8 Nonsynonymous SNV T1639A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 211097 chr19 9059828 9059828 G A MUC16 Synonymous SNV T9206T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.501 211098 chr17 10409362 10409362 G T MYH1 Synonymous SNV R675R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.071 211099 chr17 12656571 12656571 A C rs201621132 MYOCD Nonsynonymous SNV N656H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 211100 chr15 91769545 91769545 G A rs761660483 SV2B Nonsynonymous SNV G18S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 211101 chr2 203990713 203990713 C T rs772612275 NBEAL1 Nonsynonymous SNV T932I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21 211102 chr11 3050227 3050227 C T rs372317992 CARS1 Nonsynonymous SNV G261S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 211103 chr11 60890500 60890500 G C rs117045863 CD5 Nonsynonymous SNV K350N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 27 211104 chr11 61560021 61560021 C A rs200755503 MIR611 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.576 211105 chr14 24633132 24633143 AGCAGCAGCAGC - IRF9 S184_S187del 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 211106 chr11 62285626 62285626 G A rs377561067 AHNAK Synonymous SNV H5421H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.134 211107 chr11 62362519 62362519 C T rs779567819 MTA2 Nonsynonymous SNV A330T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.3 211108 chr17 18041455 18041455 C T rs374829406 MYO15A Synonymous SNV D1634D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.52 211109 chr16 1260115 1260115 C T CACNA1H Synonymous SNV Y1275Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.876 211110 chr18 55362724 55362724 C G rs765549405 ATP8B1 Nonsynonymous SNV D197H 0 0 0 2 0 0 0.005 0 0 0 0 0 17.08 211111 chr16 1486740 1486740 C T rs538546813 CCDC154 Nonsynonymous SNV E455K 0.004 0 0.003 0 5 0 0 1 1 0 0 0 8.283 211112 chr1 27272655 27272655 A G NUDC Nonsynonymous SNV K327E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 211113 chr18 57364534 57364534 C A rs753016701 CCBE1 Nonsynonymous SNV G14V 0 0 0 2 0 0 0.005 0 0 0 0 0 19.96 211114 chr11 5290833 5290833 G C HBE1 Nonsynonymous SNV L56V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 211115 chr1 28599242 28599242 G A rs779232120 SESN2 Nonsynonymous SNV A230T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 211116 chr16 19547359 19547359 T C CCP110 Nonsynonymous SNV F123S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.81 211117 chr2 216908670 216908670 C A PECR Synonymous SNV V261V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.18 211118 chr16 2012870 2012870 A C RPS2 Nonsynonymous SNV L139R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 211119 chr2 219290399 219290399 C - VIL1 L72Wfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 211120 chr1 112998733 112998733 T C rs932419855 CTTNBP2NL Synonymous SNV L207L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.133 211121 chr16 2126509 2126509 C T rs149490538 TSC2 Synonymous SNV V720V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.9 211122 chr1 114484056 114484056 A T HIPK1 Nonsynonymous SNV T351S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 211123 chr13 114061115 114061115 C T rs72666934 LOC101928841 Nonsynonymous SNV V464I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.009 211124 chr1 11591674 11591674 G A rs141767050 DISP3 Synonymous SNV L1094L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.93 211125 chr16 24567208 24567208 A C rs61759886 RBBP6 Synonymous SNV G168G 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 6.115 211126 chr1 117249108 117249108 A G rs41503345 C1orf137 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.02 211127 chr1 117554352 117554352 C T rs41276560 CD101 Nonsynonymous SNV S202F 0 0 0 2 0 0 0.005 0 0 0 0 0 27 211128 chr14 56094742 56094742 C T rs200968358 KTN1 Nonsynonymous SNV T359I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.3 211129 chr16 29999291 29999291 C T rs549071207 TAOK2 Nonsynonymous SNV P1233L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 211130 chr11 6261416 6261416 G A rs779069159 CNGA4 Nonsynonymous SNV R131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 211131 chr16 30735951 30735951 C G rs199521388 SRCAP Nonsynonymous SNV P1736A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.67 211132 chr16 31154794 31154795 TG - rs745849359 PRSS36 0 0 0.003 0 0 0 0 1 0 0 0 0 211133 chr16 3117576 3117576 T C rs774782082 IL32 Nonsynonymous SNV Y26H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 211134 chr16 3254413 3254413 A C OR1F1 Nonsynonymous SNV H56P 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 211135 chr11 7059969 7059969 A G rs114824825 NLRP14 Nonsynonymous SNV K51R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 211136 chr14 65239564 65239564 T C rs200617821 SPTB Nonsynonymous SNV S1763G 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Uncertain significance 0.003 211137 chr19 1507241 1507241 C T rs758428912 ADAMTSL5 Synonymous SNV Q284Q 0 0 0 2 0 0 0.005 0 0 0 0 0 8.208 211138 chr19 1818723 1818723 - CCTCAG rs769377112 REXO1 E961_E962insLR 0 0 0 2 0 0 0.005 0 0 0 0 0 211139 chr14 24527032 24527032 C T rs184224200 CARMIL3 Synonymous SNV H387H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 211140 chr1 145556666 145556666 A T rs782161124 ANKRD35 Nonsynonymous SNV D79V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 211141 chr16 48130705 48130705 G A rs573782879 ABCC12 Synonymous SNV S1049S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.924 211142 chr19 2252388 2252388 G - rs774058645 JSRP1 D313Tfs*40 0 0 0 2 0 0 0.005 0 0 0 0 0 211143 chr1 150470019 150470019 A G rs115390773 TARS2 Nonsynonymous SNV H215R 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Likely benign 0.361 211144 chr16 4871386 4871386 G A rs140311761 GLYR1 Synonymous SNV D186D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.975 211145 chr16 4934216 4934216 G A rs142482165 PPL Synonymous SNV L1480L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 211146 chr19 3006661 3006661 G A rs377543278 TLE2 Synonymous SNV Y297Y 0 0 0 2 0 0 0.005 0 0 0 0 0 2.684 211147 chr19 3600081 3600081 G A TBXA2R Synonymous SNV F184F 0 0 0 2 0 0 0.005 0 0 0 0 0 6.532 211148 chr11 10789632 10789632 T C rs146789471 CTR9 Synonymous SNV H628H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.118 211149 chr19 3730514 3730514 C T TJP3 Synonymous SNV S141S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.16 211150 chr1 152083041 152083041 T C TCHH Synonymous SNV R884R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 5.511 211151 chr11 17579782 17579782 G T OTOG Nonsynonymous SNV A318S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.185 211152 chr2 23926209 23926209 T C KLHL29 Synonymous SNV P753P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.513 211153 chr16 593309 593309 C T rs988945915 MIR3176 0 0 0.003 0 0 0 0 1 0 0 0 0 3.179 211154 chr1 153662851 153662851 T C NPR1 Synonymous SNV N1008N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.062 211155 chr16 64984825 64984825 G T rs763850377 CDH11 Nonsynonymous SNV P454Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 211156 chr2 241872611 241872611 G A rs776780175 CROCC2 Nonsynonymous SNV E439K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.337 211157 chr16 67006769 67006769 C G CES3 Nonsynonymous SNV S150R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 211158 chr19 5273547 5273547 C T rs61757815 PTPRS Synonymous SNV P95P 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Benign 15.25 211159 chr1 60338498 60338498 C T rs144104242 HOOK1 Nonsynonymous SNV S683F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 29.6 211160 chr17 39346416 39346416 C T KRTAP9-1 Nonsynonymous SNV S93F 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 211161 chr16 71512175 71512175 - C rs560107561 ZNF19 Frameshift insertion A77Gfs*4 0.002 0 0.007 0 2 0 0 2 0 0 0 0 211162 chr16 71606304 71606304 A T rs529908565 TAT-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.201 211163 chr16 72143382 72143382 C T rs140905863 DHX38 Synonymous SNV S1150S 0 0 0.007 0 0 0 0 2 0 0 0 0 18.49 211164 chr14 64625419 64625419 A G rs374774137 SYNE2 Nonsynonymous SNV N5290S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.009 211165 chr2 28865757 28865757 C T rs375886904 PLB1 Stop gain R1392X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 211166 chr14 65235762 65235762 C G SPTB Synonymous SNV R2004R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 211167 chr1 75102064 75102064 G A ERICH3 Nonsynonymous SNV P168L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 211168 chr11 44228492 44228492 C T rs142565472 EXT2 Synonymous SNV L582L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.844 211169 chr14 102700037 102700037 G C rs763765191 MOK Nonsynonymous SNV T122S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.951 211170 chr14 68229502 68229502 C T ZFYVE26 Nonsynonymous SNV V2016I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 211171 chr14 70252828 70252828 G A rs200149939 SLC10A1 Nonsynonymous SNV R185C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.38 211172 chr16 81737642 81737642 C T rs377241916 CMIP Synonymous SNV H587H 0 0 0.007 0 0 0 0 2 0 0 0 0 15.39 211173 chr11 119149341 119149341 C T CBL Nonsynonymous SNV A450V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 211174 chr17 42338135 42338135 G T rs781490287 SLC4A1 Nonsynonymous SNV L73M 0 0 0 2 0 0 0.005 0 0 0 0 0 0.451 211175 chr14 105353706 105353706 C T rs374507126 CEP170B Nonsynonymous SNV P974S 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 3.353 211176 chr16 84213390 84213390 C T rs377711443 TAF1C Synonymous SNV S257S 0 0 0.007 0 0 0 0 2 0 0 0 0 10.75 211177 chr14 75329940 75329940 G C rs771615420 PROX2 Nonsynonymous SNV L200V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.091 211178 chr16 855837 855837 C T rs562232573 PRR25 Nonsynonymous SNV P132L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.556 211179 chr2 44176798 44176798 T A rs144826521 LRPPRC Nonsynonymous SNV I560L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 23.9 211180 chr2 45169355 45169372 GCGGGAGGCGGCGGCGGC - rs773045257 SIX3 G42_G47del 0.001 0 0 0 1 0 0 0 0 0 0 0 211181 chr14 77605824 77605824 C T rs780198356 ZDHHC22 Synonymous SNV K86K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.202 211182 chr14 77705059 77705059 C A rs368356490 TMEM63C Nonsynonymous SNV T225N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 211183 chr19 9452937 9452937 A T ZNF559 Nonsynonymous SNV E334D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.933 211184 chr1 169279230 169279230 G A rs778367034 NME7 Nonsynonymous SNV L123F 0 0 0 3 0 0 0.008 0 0 0 0 0 24.4 211185 chr11 124858023 124858023 A G rs201316378 CCDC15 Nonsynonymous SNV K634R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.434 211186 chr2 55181124 55181124 A G rs369255283 EML6 Synonymous SNV T1439T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.873 211187 chr19 10079375 10079375 T C COL5A3 Synonymous SNV G1394G 0 0 0 2 0 0 0.005 0 0 0 0 0 2.8 211188 chr15 40591080 40591080 G A PLCB2 Synonymous SNV L257L 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 9.824 211189 chr20 10030396 10030396 T C rs371875720 ANKEF1 Synonymous SNV N393N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.071 211190 chr17 48712313 48712313 G A rs745529143 ABCC3 Nonsynonymous SNV G6S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 211191 chr2 63832495 63832495 C T MDH1 Nonsynonymous SNV H164Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 211192 chr1 177133634 177133634 G A rs781476869 ASTN1 Nonsynonymous SNV S60L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 211193 chr20 1559323 1559323 C T SIRPB1 Nonsynonymous SNV E32K 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 211194 chr15 41687108 41687108 C T rs150539399 NDUFAF1 Nonsynonymous SNV M236I 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.85 211195 chr12 250386 250386 C T rs374337873 IQSEC3 Synonymous SNV L393L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.8 211196 chr2 7030353 7030353 C T rs201649824 RSAD2 Nonsynonymous SNV A262V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 211197 chr2 70683596 70683596 T C TGFA Synonymous SNV A79A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.486 211198 chr17 55184022 55184022 C T rs774842746 AKAP1 Synonymous SNV G399G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.637 211199 chr19 13370428 13370428 C T rs371952826 CACNA1A Synonymous SNV L1447L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 16.88 211200 chr20 17581568 17581568 C T rs772655820 DSTN Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 211201 chr16 90048327 90048327 G A rs45456401 AFG3L1P 0 0 0.017 0 0 0 0 5 0 0 0 0 26.4 211202 chr16 90110279 90110279 C T rs3169375 URAHP 0 0 0.02 0 0 0 0 6 0 0 0 0 5.58 211203 chr19 14590262 14590262 G A rs775033367 GIPC1 Nonsynonymous SNV R147W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 211204 chr17 10629572 10629572 T C rs140435479 TMEM220 Nonsynonymous SNV T28A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.002 211205 chr17 11837216 11837216 G A rs200059274 DNAH9 Nonsynonymous SNV R418H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 211206 chr20 239847 239847 C T rs78479346 DEFB132 Nonsynonymous SNV P63L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.195 211207 chr2 85598290 85598290 C T rs766073287 ELMOD3 Nonsynonymous SNV R148C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 211208 chr12 6979534 6979534 A G rs781891192 TPI1 Nonsynonymous SNV N246S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 211209 chr1 196697622 196697622 G A CFH Nonsynonymous SNV G795R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 211210 chr20 30607195 30607195 C T rs780069324 CCM2L Synonymous SNV L306L 0.003 0 0 0 3 0 0 0 0 0 0 0 17.63 211211 chr11 57512480 57512480 A G rs781430128 BTBD18 Nonsynonymous SNV M422T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 211212 chr1 200943969 200943969 C T rs745363004 KIF21B Nonsynonymous SNV A1550T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 211213 chr19 17436170 17436170 C T rs578235436 ANO8 Nonsynonymous SNV R896H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 19.31 211214 chr12 10532369 10532369 G A KLRC4-KLRK1, KLRK1 Synonymous SNV C57C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.07 211215 chr15 38805041 38805041 G A rs201353449 RASGRP1 Synonymous SNV S264S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.385 211216 chr20 35661080 35661080 T C rs774211480 RBL1 Synonymous SNV L363L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.003 211217 chr15 66797710 66797710 T A rs532664071 ZWILCH Nonsynonymous SNV F12I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.879 211218 chr19 20229675 20229675 T G ZNF90 Nonsynonymous SNV S438A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.99 211219 chr14 53019904 53019904 C A GPR137C Synonymous SNV A13A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 211220 chr11 62649463 62649463 G A rs80190679 SLC3A2 Nonsynonymous SNV D175N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 211221 chr17 33884560 33884560 A G rs988449512 SLFN14 Synonymous SNV N174N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 211222 chr11 63767175 63767175 T C MACROD1 Nonsynonymous SNV E242G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 211223 chr15 75190068 75190068 G A rs371664469 MPI Synonymous SNV L373L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 9.549 211224 chr15 75968547 75968547 C T rs201364570 CSPG4 Nonsynonymous SNV G2105R 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 0.057 211225 chr11 64537048 64537048 G A rs752270947 SF1 Synonymous SNV C56C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 211226 chr17 38519508 38519508 T G GJD3 Nonsynonymous SNV K187T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 211227 chr15 51233743 51233743 A G rs1000919379 AP4E1 Nonsynonymous SNV I275V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 211228 chr3 123633939 123633939 T A CCDC14 Nonsynonymous SNV D650V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 211229 chr1 22165389 22165389 G A rs778225565 HSPG2 Nonsynonymous SNV S3361L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 211230 chr19 37239558 37239558 G A rs750704764 ZNF850 Nonsynonymous SNV T763I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.128 211231 chr15 56974637 56974637 C G rs774059102 ZNF280D Synonymous SNV L260L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 211232 chr15 85366567 85366567 A G rs79285448 ALPK3 Synonymous SNV S50S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 8.25 211233 chr20 53205289 53205289 A G rs200020780 DOK5 Nonsynonymous SNV D118G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 211234 chr11 66084282 66084282 G C CD248 Nonsynonymous SNV L73V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 211235 chr20 55111273 55111273 C T rs2296128 FAM209B Synonymous SNV L99L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.73 211236 chr20 55111364 55111364 A C rs2296129 FAM209B Nonsynonymous SNV E129A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.22 211237 chr11 67160969 67160969 T C RAD9A Synonymous SNV S3S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.562 211238 chr19 38102974 38102974 C A rs754293435 ZNF540 Nonsynonymous SNV H233N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.7 211239 chr15 64970510 64970510 C G rs768521202 ZNF609 Nonsynonymous SNV R1200G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 33 211240 chr17 40152573 40152573 G A DNAJC7 Synonymous SNV F31F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 211241 chr15 65563390 65563390 T C rs138518699 PARP16 Synonymous SNV L65L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.939 211242 chr15 89399987 89400043 ATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAG - ACAN E1408_V1426del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 211243 chr3 132390905 132390905 A G UBA5 Synonymous SNV P142P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.647 211244 chr3 133167434 133167434 G A BFSP2 Nonsynonymous SNV S225N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 211245 chr17 41458786 41458786 A T rs185801943 LINC00910 0 0 0.01 0 0 0 0 3 0 0 0 0 9.908 211246 chr15 70960545 70960545 C T rs139052072 UACA Synonymous SNV Q813Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.005 211247 chr12 51457955 51457955 A C rs775088380 CSRNP2 Synonymous SNV T402T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.025 211248 chr1 22928130 22928130 G A rs145095203 EPHA8 Nonsynonymous SNV A972T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 21.5 211249 chr17 43003847 43003847 C T rs778968636 KIF18B Nonsynonymous SNV R808H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.7 211250 chr15 75656904 75656904 C T rs779269212 MAN2C1 Synonymous SNV R175R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 211251 chr17 45017949 45017949 C T rs142261376 GOSR2 Synonymous SNV H156H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 4.613 211252 chr19 42776068 42776068 G A rs1044899707 CIC Nonsynonymous SNV D45N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.283 211253 chr3 1424693 1424693 C T rs147805325 CNTN6 Nonsynonymous SNV S641L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 211254 chr15 100871168 100871168 C T rs143689354 ADAMTS17 Nonsynonymous SNV R181K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 21.4 211255 chr11 86123537 86123537 G A rs148008941 CCDC81 Nonsynonymous SNV E353K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.25 211256 chr20 8745844 8745844 A G PLCB1 Synonymous SNV Q923Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.904 211257 chr12 53613979 53613979 G T rs537713298 RARG Nonsynonymous SNV P8T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.29 211258 chr16 425194 425194 G C rs149290956 PGAP6 Nonsynonymous SNV P460A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 25.4 211259 chr11 95825749 95825749 G A MAML2 Synonymous SNV S482S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.751 211260 chr16 461076 461076 G C DECR2 Nonsynonymous SNV G221R 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 12.55 211261 chr17 48821173 48821173 T G LUC7L3 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 211262 chr11 100168379 100168379 T C CNTN5 Synonymous SNV N705N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.893 211263 chr17 4994883 4994883 T G rs74657564 ZFP3 Nonsynonymous SNV F28L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.115 211264 chr17 53156097 53156097 G A rs199853002 STXBP4 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 211265 chr11 103006615 103006615 A G rs368908954 DYNC2H1 Nonsynonymous SNV T838A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 211266 chr3 164785196 164785196 C A rs76463353 SI Nonsynonymous SNV L189F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.9 211267 chr3 167083741 167083741 G A rs200250021 ZBBX Nonsynonymous SNV S69F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.1 211268 chr3 169513397 169513397 A - LRRC34 L324Cfs*3 0.001 0 0 2 1 0 0.005 0 0 0 0 0 211269 chr15 91026820 91026820 A G rs770475990 IQGAP1 Synonymous SNV K1261K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.823 211270 chr11 108163382 108163382 C T rs4988008 ATM Synonymous SNV F1491F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.65 211271 chr19 46893579 46893579 G A rs146393311 PPP5C Synonymous SNV T470T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.51 211272 chr11 111896960 111896960 C A rs201070254 DLAT Synonymous SNV G106G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 14.88 211273 chr17 60758285 60758285 G T rs764844295 MRC2 Nonsynonymous SNV Q866H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 211274 chr17 60814691 60814691 G C rs372629250 MARCHF10 Nonsynonymous SNV Q180E 0 0 0.007 0 0 0 0 2 0 0 0 0 9.483 211275 chr15 100252710 100252718 CAGCAGCAG - rs772724940 MEF2A Q350_Q352del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 211276 chr15 100252713 100252718 CAGCAG - MEF2A Q351_Q352del 0.002 0 0 0 2 0 0 0 0 0 0 0 211277 chr1 247886811 247886811 C - rs761432493 OR14A2 V179Ffs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 211278 chr16 335001 335001 G C PDIA2 Nonsynonymous SNV V222L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 211279 chr17 655790 655790 G C rs775000859 DBIL5P 0 0 0.01 0 0 0 0 3 0 0 0 0 4.205 211280 chr12 70150262 70150262 A G rs368063607 RAB3IP Nonsynonymous SNV D110G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 211281 chr17 6607318 6607318 C T rs72836208 SLC13A5 Synonymous SNV T99T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.62 211282 chr11 117395731 117395731 G A rs150802427 DSCAML1 Synonymous SNV T242T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 211283 chr12 70178569 70178569 G A RAB3IP Nonsynonymous SNV E194K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 211284 chr16 3727532 3727532 G A rs201545995 TRAP1 Nonsynonymous SNV P171L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.78 211285 chr17 68128754 68128754 C T rs189237891 KCNJ16 Stop gain R211X 0 0 0.01 0 0 0 0 3 0 0 0 0 35 211286 chr1 248551260 248551260 C T rs574611180 OR2T6 Synonymous SNV L117L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 211287 chr21 46058062 46058062 T C KRTAP10-10 Nonsynonymous SNV L243P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 211288 chr3 193355038 193355038 G A rs148310479 OPA1 Nonsynonymous SNV A244T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 211289 chr1 2573050 2573058 GGCCCCTGC - rs983869567 TTC34 A997_A999del 0 0 0.003 2 0 0 0.005 1 0 0 0 0 211290 chr17 71382633 71382633 G A SDK2 Synonymous SNV G1483G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 211291 chr1 26490806 26490806 G A C1orf232 Nonsynonymous SNV P136L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.417 211292 chr17 71752454 71752454 A G rs145991887 LOC100134391 Nonsynonymous SNV K268E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.722 211293 chr3 194407978 194407978 C T rs140783529 FAM43A Synonymous SNV T141T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.99 211294 chr3 194877300 194877300 C G XXYLT1 Nonsynonymous SNV Q75H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 211295 chr3 195053772 195053772 C G ACAP2 Nonsynonymous SNV K218N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 211296 chr21 47558507 47558507 G A rs200283734 FTCD Nonsynonymous SNV T453M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.76 211297 chr16 12061605 12061605 C T rs35434482 TNFRSF17 Synonymous SNV G152G 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 20.1 211298 chr16 16170188 16170188 G T rs201702388 ABCC1 Nonsynonymous SNV G640C 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 10.26 211299 chr16 1838165 1838165 C T rs144017600 NUBP2 Nonsynonymous SNV R61W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 211300 chr12 101734355 101734355 C G rs182580617 UTP20 Synonymous SNV L1356L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.549 211301 chr12 101745900 101745900 C A rs184720709 UTP20 Nonsynonymous SNV A1651E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 211302 chr16 2024999 2024999 G A rs146613315 TBL3 Nonsynonymous SNV V179M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.986 211303 chr17 73832979 73832979 C T rs146611729 UNC13D Nonsynonymous SNV R359H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 211304 chr16 2200014 2200014 G A rs997359000 RAB26 Nonsynonymous SNV A90T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 211305 chr12 107141333 107141333 C T rs77713501 RFX4 Synonymous SNV S490S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.5 211306 chr16 21261374 21261374 C T ANKS4B Nonsynonymous SNV H163Y 0 0.005 0 1 0 2 0.003 0 0 0 0 0 19.64 211307 chr17 74004807 74004807 G C rs148808819 EVPL Synonymous SNV T1515T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 211308 chr11 128709220 128709220 C A rs775088508 KCNJ1 Nonsynonymous SNV A326S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 211309 chr17 74006303 74006303 C A rs139325619 EVPL Nonsynonymous SNV V1017L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 211310 chr17 74014252 74014252 G A EVPL Synonymous SNV P509P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.51 211311 chr17 74073024 74073024 G A rs76890663 GALR2 Nonsynonymous SNV G226S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.35 211312 chr17 74082174 74082174 T C rs34439220 EXOC7 Synonymous SNV L463L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.059 211313 chr17 74169847 74169847 G T rs754867109 RNF157 Nonsynonymous SNV Q78K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 211314 chr1 34673792 34673792 A G rs761661462 C1orf94 Nonsynonymous SNV Y494C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.32 211315 chr22 20843386 20843386 C T rs145507709 KLHL22 Nonsynonymous SNV R38Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 211316 chr11 134151948 134151948 G T rs528057401 GLB1L3 Nonsynonymous SNV G154V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 211317 chr12 113398990 113398990 T C rs775190304 OAS3 Nonsynonymous SNV M591T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 211318 chr3 38518857 38518857 C T rs756779787 ACVR2B Synonymous SNV S44S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.64 211319 chr16 29885003 29885003 C T rs763216398 SEZ6L2 Nonsynonymous SNV A604T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.3 211320 chr12 116714901 116714901 C T rs562987588 MED13L Synonymous SNV A12A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.17 211321 chr16 30531182 30531182 T C rs149003816 ITGAL Nonsynonymous SNV V994A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.007 211322 chr16 30536917 30536917 C T rs922005740 ZNF768 Nonsynonymous SNV E182K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.9 211323 chr22 24572090 24572090 C G CABIN1 Nonsynonymous SNV L1968V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 211324 chr16 4700424 4700424 T C rs776872141 MGRN1 Synonymous SNV P49P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.043 211325 chr17 78041464 78041464 C T rs751987383 CCDC40 Nonsynonymous SNV R575W 0 0 0.007 0 0 0 0 2 0 0 0 0 3.112 211326 chr22 25573439 25573439 C T rs535786747 KIAA1671 Nonsynonymous SNV S1675L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 211327 chr12 5941710 5941710 C T ANO2 Synonymous SNV K232K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 211328 chr22 26565698 26565698 C T rs150514257 SEZ6L Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 211329 chr16 11836536 11836536 G T rs749510857 TXNDC11 Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 211330 chr12 123651299 123651299 G T MPHOSPH9 Nonsynonymous SNV L832M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 211331 chr16 56867238 56867238 G T NUP93 Nonsynonymous SNV R363L 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 24.9 211332 chr12 7175787 7175787 G A rs142773314 C1S Nonsynonymous SNV S241N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.9 211333 chr16 57009022 57009022 G A rs140547417 CETP Nonsynonymous SNV E254K 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.28 211334 chr17 80043017 80043017 C T rs756527893 FASN Nonsynonymous SNV E1435K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.071 211335 chr17 80211028 80211028 G A rs377571103 CSNK1D Synonymous SNV N143N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.688 211336 chr1 46860127 46860127 C T FAAH Nonsynonymous SNV T36M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.24 211337 chr16 24946854 24946854 G A rs758866505 ARHGAP17 Nonsynonymous SNV H533Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 211338 chr16 28898957 28898957 - C ATP2A1 Frameshift insertion V158Rfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 211339 chr19 58639886 58639886 G A ZNF329 Nonsynonymous SNV H329Y 0 0 0 3 0 0 0.008 0 0 0 0 0 23 211340 chr22 40804304 40804304 G A rs775450044 SGSM3 Synonymous SNV S484S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 211341 chr18 28651782 28651782 C G rs147742157 DSC2 Nonsynonymous SNV Q638H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.39 211342 chr18 28711665 28711665 T C rs16961335 DSC1 Synonymous SNV K793K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.78 211343 chr3 52476622 52476622 G A SEMA3G Stop gain Q98X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 211344 chr19 59012675 59012675 C T rs142672241 SLC27A5 Nonsynonymous SNV R303Q 0.002 0.005 0.007 3 2 2 0.008 2 0 0 0 0 Benign/Likely benign 34 211345 chr13 25480216 25480216 C T rs140927921 CENPJ Nonsynonymous SNV A654T 0.006 0.01 0.003 0 7 4 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.007 211346 chr18 31319331 31319331 A G rs369321765 ASXL3 Nonsynonymous SNV S655G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 211347 chr3 56779317 56779317 G A ARHGEF3 Synonymous SNV R268R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 211348 chr20 2378638 2378638 C T rs111415879 TGM6 Synonymous SNV T206T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.76 211349 chr3 58190577 58190577 G T DNASE1L3 Nonsynonymous SNV H88N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 211350 chr1 68914326 68914326 C T rs199529021 RPE65 Synonymous SNV P25P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 11.73 211351 chr3 65342257 65342280 CCTGCGCTCGGGCGAGCCCCCTCT - rs558263084 MAGI1 R1388_R1395del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 211352 chr16 58541763 58541763 G A rs377629200 NDRG4 Synonymous SNV T242T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 211353 chr18 47462657 47462657 G A rs1627232 MYO5B Synonymous SNV R656R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.71 211354 chr1 7723878 7723878 C T CAMTA1 Nonsynonymous SNV S394L 0.003 0 0 4 3 0 0.01 0 0 0 0 0 25.2 211355 chr18 54603097 54603097 C T rs751664459 WDR7 Synonymous SNV T1231T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 211356 chr16 69967980 69967980 - CAACCCGGA WWP2 D161_H162insNPD 0.001 0 0 2 1 0 0.005 0 0 0 0 0 211357 chr13 51957815 51957815 A G INTS6 Synonymous SNV I319I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.648 211358 chr18 56703042 56703042 G A rs533310393 OACYLP 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 211359 chr16 70699411 70699411 C T rs149181634 MTSS2 Synonymous SNV S362S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 211360 chr16 72984714 72984714 T C rs143781722 ZFHX3 Nonsynonymous SNV N43S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.324 211361 chr12 49399612 49399612 C T rs201786139 PRKAG1 Nonsynonymous SNV V28M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 211362 chr12 49433555 49433555 G T KMT2D Nonsynonymous SNV D2666E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 211363 chr16 72993128 72993128 C T rs142256050 ZFHX3 Nonsynonymous SNV R306Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 211364 chr16 88876936 88876936 G T rs377050219 APRT Synonymous SNV G72G 0.001 0.008 0 3 1 3 0.008 0 0 0 0 0 Uncertain significance 8.972 211365 chr18 72234623 72234623 A G rs760311524 CNDP1 Synonymous SNV P237P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.707 211366 chr4 10599672 10599672 C A rs755910013 CLNK Nonsynonymous SNV G5C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 211367 chr2 103281675 103281675 C A rs373377407 SLC9A2 Synonymous SNV I290I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 211368 chr16 89845229 89845229 C T rs550064744 FANCA Synonymous SNV A602A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.69 211369 chr12 52314610 52314610 C T rs139142865 ACVRL1 Nonsynonymous SNV A482V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 211370 chr12 52758873 52758873 G C rs781294049 KRT85 Nonsynonymous SNV L168V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 211371 chr12 53070240 53070240 G A rs142781300 KRT1 Nonsynonymous SNV R432C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 211372 chr19 10335348 10335348 G C S1PR2 Synonymous SNV S78S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 211373 chr12 53185087 53185087 G A rs546099163 KRT3 Nonsynonymous SNV R480W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 211374 chr13 111932967 111932967 G A rs146121341 ARHGEF7 Synonymous SNV T321T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.623 211375 chr19 1051005 1051005 C T rs866064750 ABCA7 Nonsynonymous SNV R880W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 211376 chr2 118743629 118743629 C T rs146353723 CCDC93 Nonsynonymous SNV R179H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 211377 chr16 85100737 85100737 C T rs781046094 KIAA0513 Synonymous SNV T20T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.237 211378 chr17 3446885 3446885 T G rs322937 TRPV3 Synonymous SNV R117R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.392 211379 chr4 129783057 129783057 C T rs557650317 JADE1 Nonsynonymous SNV R382W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.2 211380 chr16 87799412 87799412 A G rs148808761 KLHDC4 Nonsynonymous SNV S29P 0.004 0 0 0 5 0 0 0 0 0 0 0 23.3 211381 chr12 54108426 54108426 G A rs1030520322 CALCOCO1 Nonsynonymous SNV R395C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 211382 chr4 13578477 13578477 C G BOD1L1 Nonsynonymous SNV R3008T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 211383 chr19 12463876 12463876 - C ZNF442 Frameshift insertion A44Gfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 211384 chr19 13084303 13084303 T C rs781603124 DAND5 Nonsynonymous SNV L142P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 211385 chr20 48522841 48522841 C T rs143910300 SPATA2 Nonsynonymous SNV R293H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 32 211386 chr19 14938887 14938887 T G OR7A5 Nonsynonymous SNV H56P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 211387 chr16 88947176 88947176 G A rs779126607 CBFA2T3 Nonsynonymous SNV P389S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.444 211388 chr20 50769077 50769077 G T rs114019425 ZFP64 Nonsynonymous SNV P498T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 211389 chr2 152404198 152404198 C T rs201337732 NEB Nonsynonymous SNV D5037N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 35 211390 chr2 152404248 152404248 A G rs111517514 NEB Nonsynonymous SNV L5020P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.3 211391 chr2 152466561 152466561 T A NEB Nonsynonymous SNV K3788M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 211392 chr20 30804853 30804853 A G rs941878066 POFUT1 X195W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.66 211393 chr19 16436602 16436602 A G KLF2 Synonymous SNV P217P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.853 211394 chr20 31892682 31892682 G A rs199521304 BPIFB1 Synonymous SNV G413G 0 0 0 2 0 0 0.005 0 0 0 0 0 1.13 211395 chr12 65564604 65564604 C T rs939594483 LEMD3 Nonsynonymous SNV L410F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 211396 chr20 33470696 33470696 T C rs139489319 ACSS2 Nonsynonymous SNV I93T 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 211397 chr17 7751480 7751480 C T rs112251890 KDM6B Nonsynonymous SNV P625L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 211398 chr4 184931764 184931764 T C rs761147995 STOX2 Synonymous SNV C591C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 211399 chr12 91502071 91502071 T G LUM Nonsynonymous SNV N229T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 211400 chr14 45639947 45639947 C T rs751262177 FANCM Nonsynonymous SNV P694S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.995 211401 chr17 10431099 10431099 C T rs1139432 MYH2 Synonymous SNV L1279L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.179 211402 chr21 28217044 28217044 C T rs201919354 ADAMTS1 Nonsynonymous SNV R77H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 211403 chr17 11648285 11648285 G A rs61744677 DNAH9 Nonsynonymous SNV G2095R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 211404 chr19 2253736 2253736 G A rs939302497 JSRP1 Nonsynonymous SNV P107S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 211405 chr4 1987542 1987542 G A NELFA Synonymous SNV N295N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.355 211406 chr20 44470586 44470586 C T rs147298395 ACOT8 Nonsynonymous SNV R284Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 35 211407 chr14 55034721 55034721 G T SAMD4A Synonymous SNV L29L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.723 211408 chr12 105150818 105150818 G A rs138320785 CHST11 Nonsynonymous SNV R94Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.89 211409 chr20 44598171 44598171 C T rs375438170 ZNF335 Nonsynonymous SNV D121N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 211410 chr17 18140875 18140875 G C LLGL1 Nonsynonymous SNV E564D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 211411 chr21 34957035 34957035 G A DONSON Stop gain Q216X 0 0 0 1 0 0 0.003 0 0 0 0 0 42 211412 chr14 59821936 59821936 C T rs61755340 DAAM1 Synonymous SNV L804L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.7 211413 chr17 7220627 7220627 G C rs369394948 NEURL4 Nonsynonymous SNV P1459A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 211414 chr19 36035872 36035872 T C rs765970799 GAPDHS Nonsynonymous SNV I373T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.8 211415 chr2 183821255 183821255 C T rs747657249 NCKAP1 Synonymous SNV V696V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.78 211416 chr12 116460313 116460313 C G rs201690921 MED13L Nonsynonymous SNV L191F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.89 211417 chr4 38937384 38937384 G A rs140042546 FAM114A1 Synonymous SNV K296K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 211418 chr20 57428369 57428369 G A GNAS Nonsynonymous SNV D17N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.28 211419 chr14 68066903 68066903 G A PIGH Synonymous SNV S6S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15 211420 chr16 56857760 56857760 T G NUP93 0.002 0 0 0 2 0 0 0 0 0 0 0 26 211421 chr17 7751491 7751491 C T rs199821311 KDM6B Nonsynonymous SNV R629W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.9 211422 chr19 464254 464254 G A rs150637619 ODF3L2 Synonymous SNV L154L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.044 211423 chr12 120765544 120765544 C A PLA2G1B Nonsynonymous SNV V5L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 211424 chr17 26723301 26723301 C T SARM1 Nonsynonymous SNV T723I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.9 211425 chr20 60897371 60897371 G A rs372466741 LAMA5 Synonymous SNV R2100R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.58 211426 chr2 190592816 190592816 T C ANKAR Nonsynonymous SNV L957P 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 211427 chr4 48564996 48564996 T C rs574079248 FRYL Synonymous SNV Q1202Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.297 211428 chr19 3977229 3977229 G A rs760361343 EEF2 Synonymous SNV P789P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.524 211429 chr19 40354469 40354469 G A rs147646179 FCGBP Nonsynonymous SNV P5334S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.682 211430 chr12 124323125 124323125 C T rs145322154 DNAH10 Synonymous SNV Y1557Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.762 211431 chr17 11924262 11924262 C T rs978668162 MAP2K4 Nonsynonymous SNV T20I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 211432 chr19 40996119 40996119 G T rs752476135 SPTBN4 Synonymous SNV T153T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.063 211433 chr12 125270812 125270812 C A SCARB1 Nonsynonymous SNV A498S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.186 211434 chr17 15554791 15554791 C T rs199499021 TRIM16 Nonsynonymous SNV V45M 0.003 0 0 0 3 0 0 0 0 0 0 0 1.485 211435 chr17 35979871 35979871 T A rs199573535 DDX52 Nonsynonymous SNV I531L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 20.8 211436 chr2 203500107 203500107 A G rs540330635 FAM117B Nonsynonymous SNV N66S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.18 211437 chr22 18300258 18300258 C T rs761849307 MICAL3 Synonymous SNV K1723K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.861 211438 chr14 81606116 81606116 A G TSHR Synonymous SNV K262K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.967 211439 chr22 19808162 19808162 C T GNB1L Synonymous SNV V71V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 211440 chr17 38340844 38340844 G A rs368493192 RAPGEFL1 Synonymous SNV L98L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.15 211441 chr14 92336607 92336607 C G FBLN5 Synonymous SNV V436V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.72 211442 chr4 72338617 72338617 C T rs775857170 SLC4A4 Synonymous SNV Y567Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 211443 chr19 4510680 4510680 C T PLIN4 Nonsynonymous SNV V1098M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 211444 chr2 218713611 218713611 G A rs776041802 TNS1 Synonymous SNV T418T 0.004 0 0 0 5 0 0 0 0 0 0 0 1.427 211445 chr17 27446394 27446394 G A rs114765291 MYO18A Synonymous SNV N596N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.19 211446 chr13 25473696 25473696 T C rs138675304 CENPJ Nonsynonymous SNV Q951R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 211447 chr19 519133 519133 G C TPGS1 Nonsynonymous SNV V195L 0 0 0 2 0 0 0.005 0 0 0 0 0 19.21 211448 chr17 30648019 30648019 C T rs1033222442 RHBDL3 Nonsynonymous SNV P268L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 211449 chr2 219846550 219846550 C T FEV Nonsynonymous SNV G186R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 211450 chr4 79430050 79430050 A C FRAS1 Nonsynonymous SNV T3224P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 211451 chr13 33320217 33320217 G A rs769008060 PDS5B Synonymous SNV Q905Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.904 211452 chr22 30776100 30776100 G A rs141647980 RNF215 Nonsynonymous SNV P320L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 211453 chr22 30812246 30812246 C T rs138538847 SEC14L2 Nonsynonymous SNV A229V 0 0 0 2 0 0 0.005 0 0 0 0 0 23 211454 chr2 220404547 220404547 C T rs556897436 CHPF Nonsynonymous SNV R467H 0.004 0 0 2 5 0 0.005 0 0 0 0 0 34 211455 chr17 35990157 35990157 A G DDX52 Nonsynonymous SNV L217S 0.001 0 0 0 1 0 0 0 0 0 0 0 27 211456 chr17 36878953 36878955 CTC - rs571451954 MLLT6 L940del 0.001 0 0 0 1 0 0 0 0 0 0 0 211457 chr21 43411786 43411786 C T rs374335079 ZBTB21 Nonsynonymous SNV E807K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.88 211458 chr17 38519570 38519570 G C GJD3 Nonsynonymous SNV F166L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 211459 chr17 38933826 38933826 G C KRT27 Nonsynonymous SNV I377M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 211460 chr15 28491957 28491957 C T rs778422968 HERC2 Nonsynonymous SNV A1108T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.39 211461 chr13 46288092 46288092 C T rs112770979 CBY2 Nonsynonymous SNV P284L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 211462 chr2 232790420 232790420 C A rs770248918 NPPC Synonymous SNV P32P 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 211463 chr13 49822256 49822256 G A CDADC1 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 211464 chr17 42981333 42981333 G A rs191363131 FAM187A Nonsynonymous SNV D46N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.3 211465 chr13 50586904 50586904 T A TRIM13 Synonymous SNV P276P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.083 211466 chr21 46310116 46310116 C T rs754136611 ITGB2 Synonymous SNV G478G 0 0.005 0 3 0 2 0.008 0 0 0 0 0 10.28 211467 chr17 46023295 46023295 C G rs35974730 PNPO Synonymous SNV P162P 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign 12.98 211468 chr17 46622106 46622106 G A rs149018490 HOXB2 Synonymous SNV L56L 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 8.928 211469 chr17 46622159 46622159 C T rs142964858 HOXB2 Nonsynonymous SNV E39K 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.3 211470 chr17 39659273 39659273 G A rs755412445 KRT13 Synonymous SNV T271T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 211471 chr13 77785415 77785415 T C rs368235641 MYCBP2 Synonymous SNV K1101K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.151 211472 chr5 110836674 110836674 A G rs1051243538 STARD4 Synonymous SNV F141F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.41 211473 chr17 48431303 48431303 G A rs144474638 XYLT2 Nonsynonymous SNV A150T 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.7 211474 chr17 48917207 48917207 C T WFIKKN2 Synonymous SNV P93P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 10.87 211475 chr17 40940416 40940416 G A rs201748544 WNK4 Synonymous SNV R341R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.783 211476 chr22 19710015 19710015 C T rs995673431 SEPT5-GP1BB 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 211477 chr5 1225654 1225654 G A rs745790431 SLC6A18 Stop gain W21X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 211478 chr22 44282293 44282293 G C rs552461775 PNPLA5 Nonsynonymous SNV A166G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.328 211479 chr13 103444358 103444358 T C POGLUT2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.978 211480 chr2 241724440 241724440 C T rs771122739 KIF1A Nonsynonymous SNV R229H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 211481 chr2 24471539 24471539 G C ITSN2 Nonsynonymous SNV L1043V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 211482 chr17 46801821 46801821 G A rs376980892 PRAC2 Nonsynonymous SNV A17T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.01 211483 chr22 50017833 50017833 G C rs200839218 C22orf34 Synonymous SNV P145P 0.002 0 0 4 2 0 0.01 0 0 0 0 0 1.68 211484 chr19 54974342 54974342 T G LENG9 Nonsynonymous SNV H123P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 211485 chr19 54974487 54974487 G A rs373060387 LENG9 Nonsynonymous SNV R75C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 25.1 211486 chr2 27373204 27373204 C T TCF23 Nonsynonymous SNV R146C 0.003 0 0 0 3 0 0 0 0 0 0 0 27.3 211487 chr14 20763503 20763503 T C rs61745005 TTC5 Synonymous SNV V342V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.855 211488 chr22 30210753 30210753 A G rs751079256 ASCC2 Nonsynonymous SNV F27L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.4 211489 chr22 30416182 30416182 C T MTMR3 Nonsynonymous SNV S845F 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 211490 chr14 20864818 20864818 G A rs116033258 TEP1 Nonsynonymous SNV R433C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 211491 chr5 140202484 140202484 A T rs139245496 PCDHA5 Nonsynonymous SNV D375V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 211492 chr14 21052621 21052621 G A rs17113756 RNASE11 Nonsynonymous SNV P5S 0.008 0.003 0 0 9 1 0 0 0 0 0 0 0.009 211493 chr15 63948443 63948443 G T rs779640036 HERC1 Nonsynonymous SNV S3238R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.6 211494 chr14 21560700 21560700 - GGCTCC rs753591621 ZNF219 E253_R254insPE 0.001 0 0 0 1 0 0 0 0 0 0 0 211495 chr17 61890735 61890735 A G rs139342309 DDX42 Nonsynonymous SNV N608S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.39 211496 chr17 73843939 73843939 G A rs770002382 WBP2 Nonsynonymous SNV P157L 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 23 211497 chr2 37235863 37235863 T C rs773649630 HEATR5B Synonymous SNV T1471T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.353 211498 chr19 57159002 57159002 G C SMIM17 Nonsynonymous SNV Q82H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 211499 chr5 14474105 14474105 C T rs752651433 TRIO Synonymous SNV G1994G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 211500 chrX 53454988 53454988 G A rs142546210 RIBC1 Nonsynonymous SNV R52Q 0 0 0 2 0 0 0.005 0 0 0 0 1 6.936 211501 chr19 8385754 8385754 C T rs200548169 NDUFA7 Nonsynonymous SNV E30K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 211502 chr17 71410869 71410869 C T rs141611857 SDK2 Nonsynonymous SNV A800T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 211503 chr19 58991758 58991758 G C rs768955505 ZNF446 Nonsynonymous SNV G340R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 211504 chr15 76222259 76222259 T A rs753896326 FBXO22 Synonymous SNV L221L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 211505 chr15 77154780 77154780 G C SCAPER Nonsynonymous SNV P34R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 211506 chr17 76991224 76991224 C T rs540991187 CANT1 Synonymous SNV T237T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 14.87 211507 chr14 31787488 31787488 G A rs373766664 HEATR5A Nonsynonymous SNV A1327V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 211508 chr19 687144 687144 C G PRSS57 Nonsynonymous SNV R141S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.941 211509 chr2 61336342 61336342 C A KIAA1841 Stop gain S406X 0.002 0 0 0 2 0 0 0 0 0 0 0 42 211510 chr19 7533852 7533852 C A rs745756720 ARHGEF18 Synonymous SNV R966R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 211511 chr14 39818128 39818128 G C rs202143576 MIA2 Nonsynonymous SNV R634P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 211512 chrX 124455347 124455347 G A TEX13C Nonsynonymous SNV S460N 0.002 0.003 0 2 2 1 0.005 0 1 0 0 1 3.35 211513 chrX 125299421 125299421 G A DCAF12L2 Nonsynonymous SNV L163F 0.002 0.003 0 2 2 1 0.005 0 1 0 0 1 16.11 211514 chr2 69757231 69757231 C T AAK1 Synonymous SNV L260L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 211515 chr19 8174231 8174231 C T rs745616791 FBN3 Nonsynonymous SNV G1500R 0 0 0.003 0 0 0 0 1 0 0 0 0 29 211516 chr19 8176890 8176890 C G rs76318007 FBN3 Nonsynonymous SNV G1311A 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 25.6 211517 chr17 79214794 79214794 A C rs371310918 NDUFAF8 Nonsynonymous SNV K68T 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 22.1 211518 chrX 138619257 138619257 C A rs139089559 F9 Nonsynonymous SNV N59K 0 0 0 2 0 0 0.005 0 0 0 0 1 26.5 211519 chr14 52481922 52481922 G T rs140488728 NID2 Nonsynonymous SNV P1034T 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 211520 chr2 74689156 74689156 C T rs750912161 MOGS Nonsynonymous SNV R587Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 211521 chr2 74699728 74699728 G A MRPL53 Synonymous SNV F20F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.792 211522 chr19 9003647 9003647 G A rs377423055 MUC16 Synonymous SNV I13331I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.355 211523 chr2 75917767 75917767 C T rs144019540 GCFC2 Nonsynonymous SNV R239Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 33 211524 chr18 3499354 3499354 C A rs973664462 DLGAP1 Synonymous SNV A619A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 13.94 211525 chr15 90630704 90630704 C T rs118101777 IDH2 Nonsynonymous SNV R131H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 33 211526 chr19 9213753 9213753 T G OR7G2 Nonsynonymous SNV H77P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 211527 chr2 111398886 111398886 G A rs546139108 BUB1 Synonymous SNV N907N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.471 211528 chr19 9361940 9361940 A C OR7E24 Nonsynonymous SNV H74P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 211529 chr17 78320284 78320284 G A rs201535150 RNF213 Nonsynonymous SNV D2717N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.333 211530 chr17 78857727 78857727 C T rs61733885 RPTOR Synonymous SNV S599S 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 15.1 211531 chr1 2338350 2338350 C T rs554294948 PEX10 Synonymous SNV A215A 0.003 0 0 0 4 0 0 0 0 0 0 0 13.02 211532 chr1 10719824 10719824 G T CASZ1 Synonymous SNV P425P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.507 211533 chr3 105260572 105260572 A T rs201974220 ALCAM Nonsynonymous SNV K318N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.21 211534 chr3 107799131 107799131 G C rs757872791 CD47 Nonsynonymous SNV T36S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.77 211535 chr2 120979533 120979533 G A rs188174061 TMEM185B Synonymous SNV P340P 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.458 211536 chr18 22805273 22805273 T C ZNF521 Nonsynonymous SNV N650S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.68 211537 chr18 24440758 24440758 A G rs72557975 AQP4 Nonsynonymous SNV M202T 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 5.185 211538 chr1 110199348 110199348 C G rs148886417 GSTM4 Nonsynonymous SNV I17M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 211539 chr1 110293411 110293411 C T rs78913883 EPS8L3 Synonymous SNV T484T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 19.1 211540 chr1 114424480 114424480 A G rs749767273 BCL2L15 Nonsynonymous SNV V130A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.024 211541 chr2 131117199 131117199 C T rs146895206 PTPN18 Stop gain R132X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 211542 chr1 10464294 10464294 G A PGD Nonsynonymous SNV R114Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 32 211543 chr1 113266647 113266647 T C TAFA3 Nonsynonymous SNV C116R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 211544 chr2 141128791 141128791 A G rs780664085 LRP1B Nonsynonymous SNV L3611S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 211545 chr5 40981662 40981662 C T rs761687811 C7 Nonsynonymous SNV A840V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.828 211546 chr1 12252976 12252976 C T rs199873050 TNFRSF1B Nonsynonymous SNV T203M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.075 211547 chr1 12343080 12343080 G A rs770183631 VPS13D Nonsynonymous SNV G1641S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 211548 chr14 92487991 92487991 T C TRIP11 Nonsynonymous SNV D165G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27 211549 chr1 118693236 118693236 G A rs139146164 SPAG17 Nonsynonymous SNV T82I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.78 211550 chr1 15892462 15892462 C A rs747084634 DNAJC16 Synonymous SNV I237I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 211551 chr1 11898646 11898646 G A rs764870626 CLCN6 Nonsynonymous SNV V798I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 211552 chr3 122134254 122134254 G A rs142943736 WDR5B Nonsynonymous SNV T41M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.43 211553 chr16 3265628 3265628 A G OR1F2P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.299 211554 chr14 94845836 94845836 C T rs367797069 SERPINA1 Nonsynonymous SNV G344R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 211555 chr1 1374462 1374462 C T VWA1 Synonymous SNV D211D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.239 211556 chr14 95054087 95054087 G A rs61761873 SERPINA5 Nonsynonymous SNV G130S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 211557 chr5 60839493 60839493 G A rs367685952 ZSWIM6 Synonymous SNV A999A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 211558 chr1 150531582 150531582 G A rs376803411 ADAMTSL4 Nonsynonymous SNV A902T 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 26.1 211559 chr1 150923023 150923023 G A rs778278659 SETDB1 Nonsynonymous SNV R557Q 0 0 0 2 0 0 0.005 0 0 0 0 0 21.8 211560 chr2 166611229 166611229 C T rs374713815 GALNT3 Nonsynonymous SNV V512I 0 0 0 3 0 0 0.008 0 0 0 0 0 9.838 211561 chr1 151147253 151147253 G A rs587594513 TMOD4 Synonymous SNV C33C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.06 211562 chr3 125271288 125271288 G C rs764509671 OSBPL11 Nonsynonymous SNV P464R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.5 211563 chr2 167099087 167099087 G T SCN9A Synonymous SNV T1184T 0 0 0 3 0 0 0.008 0 0 0 0 0 10.55 211564 chr1 152128205 152128208 TGTC - RPTN R456Kfs*34 0 0 0 1 0 0 0.003 0 0 0 0 0 211565 chr2 170097811 170097811 G T rs761045582 LRP2 Synonymous SNV I1244I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.862 211566 chr18 31323099 31323099 C T rs369125364 ASXL3 Nonsynonymous SNV T1096M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 211567 chr14 104145843 104145843 C T rs142650373 KLC1 Synonymous SNV D537D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.8 211568 chr5 7414805 7414805 G A rs749765547 ADCY2 Synonymous SNV S110S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 211569 chr18 77170911 77170911 C G rs577582640 NFATC1 Synonymous SNV P212P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 6.953 211570 chr1 153998050 153998050 C T NUP210L Nonsynonymous SNV G1364R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 211571 chr18 43510718 43510718 A C rs996455960 EPG5 Nonsynonymous SNV F779C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 211572 chr18 44398389 44398390 AT - rs778712077 PIAS2 Stop gain I557* 0.001 0 0 0 1 0 0 0 0 0 0 0 211573 chr18 47506839 47506839 C T rs189027956 MYO5B Nonsynonymous SNV R344H 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign 24.1 211574 chr14 105707660 105707660 C T rs748237948 BRF1 Synonymous SNV Q8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 211575 chr1 153916858 153916858 C T DENND4B Nonsynonymous SNV G9E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 211576 chr5 76171327 76171327 T C rs201835541 S100Z 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 211577 chr5 76373557 76373557 C T ZBED3 Stop gain W49X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 211578 chr15 22835964 22835964 C A rs149669566 TUBGCP5 Synonymous SNV I65I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 12.45 211579 chr1 154744678 154744678 C T KCNN3 Synonymous SNV L407L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 211580 chr1 155449564 155449564 A G ASH1L Synonymous SNV L1033L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.209 211581 chr5 79095282 79095282 A G CMYA5 Nonsynonymous SNV Q4018R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 211582 chr15 33149283 33149283 C T rs371991451 FMN1 Synonymous SNV V1064V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 211583 chr15 33359655 33359655 G C rs755175721 FMN1 Nonsynonymous SNV T144S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 211584 chr3 138117311 138117311 G A rs780977038 MRAS Synonymous SNV R40R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 211585 chr15 34028467 34028467 C T RYR3 Synonymous SNV L2486L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 211586 chr15 35159799 35159799 A G rs113754365 AQR Synonymous SNV V1260V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.941 211587 chr3 142137376 142137376 A G rs765985231 XRN1 Nonsynonymous SNV M439T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 211588 chr15 40268854 40268854 G A rs183711630 EIF2AK4 Synonymous SNV P686P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.965 211589 chr18 60242678 60242678 G T rs866334998 ZCCHC2 Nonsynonymous SNV G1122C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 211590 chr1 26691683 26691683 G A rs142231514 ZNF683 Synonymous SNV T118T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.536 211591 chr1 27277916 27277916 C T rs145055719 KDF1 Nonsynonymous SNV R319H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 211592 chr18 61585321 61585321 G A rs201911253 SERPINB10 Synonymous SNV T119T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.233 211593 chr3 148896384 148896384 A G rs374288870 CP Nonsynonymous SNV V899A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 211594 chr1 27875955 27875955 C T rs770718017 AHDC1 Nonsynonymous SNV R891Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 211595 chr18 65178929 65178929 G A DSEL Stop gain Q973X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 211596 chr16 28994542 28994542 C T rs145586651 SPNS1 Synonymous SNV T343T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 211597 chr19 2933603 2933605 GAA - rs565530193 ZNF77 L507del 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 211598 chr1 32673514 32673514 G C rs150341307 IQCC Nonsynonymous SNV R491T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.8 211599 chr1 15911418 15911418 G A rs140564717 AGMAT Synonymous SNV P15P 0 0 0.014 3 0 0 0.008 4 0 0 0 1 13.41 211600 chr15 42171504 42171504 G A rs377236170 SPTBN5 Synonymous SNV L1046L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.198 211601 chr3 154146634 154146634 T G rs760092450 GPR149 Synonymous SNV P257P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.189 211602 chr1 159176124 159176124 G A rs752428245 ACKR1 Nonsynonymous SNV A301T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 25.2 211603 chr16 31154177 31154177 A G PRSS36 Nonsynonymous SNV L413P 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 211604 chr3 156763446 156763446 C T rs140351975 LEKR1 Synonymous SNV P662P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 211605 chr19 3643248 3643248 G A rs752717133 PIP5K1C Nonsynonymous SNV R548W 0 0.005 0 1 0 2 0.003 0 0 0 0 0 27.9 211606 chr19 3730509 3730509 C T rs745463222 TJP3 Nonsynonymous SNV R140C 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 24.2 211607 chr15 42851604 42851604 T C rs771873522 HAUS2 Nonsynonymous SNV L54S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 211608 chr1 159922068 159922068 A G rs764902016 SLAMF9 Synonymous SNV D216D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 211609 chr6 108496105 108496105 G A NR2E1 Synonymous SNV L116L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.12 211610 chr15 43818423 43818423 A G rs202001920 MAP1A Synonymous SNV L1584L 0.005 0 0.003 2 6 0 0.005 1 0 0 0 0 0.085 211611 chr19 884921 884921 G A rs776038299 MED16 Stop gain Q323X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 211612 chr6 112461998 112461998 T G rs397516727 LAMA4 Synonymous SNV T980T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 0.094 211613 chr19 1007869 1007869 A G GRIN3B Nonsynonymous SNV K738R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 211614 chr1 42048415 42048415 G A HIVEP3 Nonsynonymous SNV A685V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.037 211615 chr1 167408633 167408633 C A rs372651048 CD247 Nonsynonymous SNV S56I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 211616 chr3 182853600 182853600 C T rs974003989 LAMP3 Nonsynonymous SNV S341N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 211617 chr6 117128160 117128160 G A rs772554360 GPRC6A Synonymous SNV N236N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.438 211618 chr16 66426120 66426120 C T rs762342061 CDH5 Nonsynonymous SNV P351S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 211619 chr6 121433774 121433774 G A rs777791020 TBC1D32 Synonymous SNV D1067D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 3.188 211620 chr1 171509388 171509388 C T rs775022901 PRRC2C Nonsynonymous SNV S926F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.14 211621 chr19 1226473 1226473 G C rs768870802 STK11 Nonsynonymous SNV A377P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.48 211622 chr16 69875980 69875980 C T rs184547498 WWP2 Nonsynonymous SNV R62W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 211623 chr19 1599502 1599502 G A rs142985781 UQCR11 Synonymous SNV T36T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 211624 chr3 184769774 184769774 C T VPS8 Synonymous SNV F1403F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 211625 chr19 7830660 7830660 C G rs771994900 CLEC4M Synonymous SNV T89T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 4.679 211626 chr19 7830661 7830661 C G rs775349900 CLEC4M Nonsynonymous SNV Q90E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 19.18 211627 chr19 7830731 7830731 G A rs76899402 CLEC4M Nonsynonymous SNV R120Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.006 211628 chr16 71805140 71805140 C G rs754575695 AP1G1 Nonsynonymous SNV V162L 0 0.003 0 0 0 1 0 0 0 0 0 0 23 211629 chr15 63089511 63089511 G A rs747600738 TLN2 Synonymous SNV A2048A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 211630 chr19 3148782 3148798 CCAGGGCAGGCAGGGGC - rs541922155 LOC100996351 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 211631 chr1 48708137 48708137 C A rs138087820 SLC5A9 Synonymous SNV R562R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.2 211632 chr2 219738522 219738522 G A rs752458659 WNT6 Synonymous SNV Q351Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.313 211633 chr1 52442604 52442604 C T RAB3B Synonymous SNV K62K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.31 211634 chr1 178834725 178834725 G A ANGPTL1 Nonsynonymous SNV P63S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 211635 chr1 55590150 55590150 C T rs374827779 USP24 Nonsynonymous SNV S1371N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 211636 chr3 195594719 195594719 G A rs3749333 TNK2 Nonsynonymous SNV P834L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 211637 chr2 222321340 222321340 G C rs61743680 EPHA4 Synonymous SNV T481T 0 0 0 2 0 0 0.005 0 0 0 0 0 1.77 211638 chr6 150386723 150386723 G A rs372155960 ULBP3 Nonsynonymous SNV R147W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 211639 chr3 197665603 197665603 T C rs149674426 IQCG Nonsynonymous SNV M111V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 211640 chr1 65339104 65339104 T C JAK1 Synonymous SNV P144P 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 5.527 211641 chr15 78893831 78893831 G A rs76018802 CHRNA3 Nonsynonymous SNV R385C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 211642 chr1 19934530 19934530 G A rs61765155 RPS14P3 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 211643 chr2 238726755 238726755 G A rs770920621 RBM44 Nonsynonymous SNV S399N 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 5.235 211644 chr6 168348980 168348980 C T rs145954704 AFDN Nonsynonymous SNV T1194M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.91 211645 chr17 1372905 1372905 A T MYO1C Nonsynonymous SNV S844T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 211646 chr15 89453047 89453047 A T rs35921618 MFGE8 Nonsynonymous SNV Y61N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25 211647 chr19 13409395 13409395 G A rs772611976 CACNA1A Nonsynonymous SNV R1019W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.9 211648 chr15 90039748 90039748 G T rs199622503 RHCG Synonymous SNV R10R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 211649 chr1 207139094 207139094 C T rs368626305 FCAMR Synonymous SNV S93S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 211650 chr15 90281297 90281297 C G rs139026712 WDR93 Synonymous SNV S569S 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 2.355 211651 chr6 24146033 24146033 C A rs750732491 NRSN1 Nonsynonymous SNV F149L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.41 211652 chr1 2114116 2114116 C T rs138848308 PRKCZ-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.847 211653 chr1 216172299 216172299 C G rs79444516 USH2A Nonsynonymous SNV S2196T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 211654 chr3 49159140 49159140 C T LAMB2 Nonsynonymous SNV G1693S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.73 211655 chr2 32370014 32370014 A G rs142053576 SPAST Nonsynonymous SNV D509G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 211656 chr3 49691084 49691084 A G rs762662730 BSN Synonymous SNV S1365S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.304 211657 chr19 17387390 17387390 G A rs200016717 BABAM1 Nonsynonymous SNV R144H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 211658 chr19 11515908 11515908 C G rs201101636 RGL3 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 211659 chr16 818446 818446 G A rs563407287 MSLN Nonsynonymous SNV R563Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.555 211660 chr19 17439392 17439392 - CCTCCTCCTCGT rs758160988 ANO8 E601_G602insDEEE 0 0.003 0 1 0 1 0.003 0 0 0 0 0 211661 chr6 35212529 35212529 G A rs978504252 SCUBE3 Nonsynonymous SNV R780H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 211662 chr19 17534560 17534560 C T rs184098931 MVB12A Nonsynonymous SNV R198W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.7 211663 chr3 52085137 52085137 G A rs755681632 DUSP7 Synonymous SNV D318D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.277 211664 chr16 1496713 1496713 G A CLCN7 Synonymous SNV V755V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.13 211665 chr16 1537956 1537956 C G rs144904207 PTX4 Nonsynonymous SNV E48Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.1 211666 chr2 48809568 48809568 G A rs200156328 STON1, STON1-GTF2A1L Nonsynonymous SNV R599H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 211667 chr1 228469764 228469764 A G OBSCN Synonymous SNV T2776T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 211668 chr1 22895820 22895820 G A rs45498698 EPHA8 Nonsynonymous SNV G45S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 211669 chr3 58124076 58124076 C T rs149070858 FLNB Synonymous SNV A1643A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.44 211670 chr1 226040387 226040387 A G TMEM63A Synonymous SNV T627T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.01 211671 chr1 233152887 233152887 T C rs201635872 PCNX2 Nonsynonymous SNV Y1540C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 211672 chr16 2510371 2510371 G A rs201277594 TEDC2 Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.729 211673 chr16 2814206 2814206 A G SRRM2 Nonsynonymous SNV N1226S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 211674 chr6 43471383 43471383 A G rs549593302 TJAP1 Nonsynonymous SNV N163S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 211675 chr1 236687576 236687576 G A rs12734063 LGALS8-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 10.14 211676 chr2 70504143 70504143 C T rs144903509 PCYOX1 Synonymous SNV F379F 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 12.3 211677 chr19 33106614 33106614 C T rs750530864 ANKRD27 Nonsynonymous SNV E709K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 211678 chr16 3487095 3487095 - ACA rs769620883 ZNF597 T201_H202insC 0.001 0 0 0 1 0 0 0 0 0 0 0 211679 chr1 24392413 24392413 C T rs371522272 MYOM3 Nonsynonymous SNV E1168K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.991 211680 chr16 4802489 4802489 C T rs373754612 ZNF500 Nonsynonymous SNV R444Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 211681 chr17 17168265 17168265 C G COPS3 Nonsynonymous SNV A53P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 211682 chr17 17697094 17697114 CAGCAGCAGCAGCAGCAGCAG - rs398124422 RAI1 Q285_Q291del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 211683 chr17 17697103 17697114 CAGCAGCAGCAG - RAI1 Q288_Q291del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 211684 chr16 7383054 7383054 G A rs748478313 RBFOX1 Nonsynonymous SNV V18I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.682 211685 chr2 84652653 84652653 G A rs113840224 SUCLG1 Synonymous SNV A300A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.61 211686 chr1 247615220 247615220 G A rs540137681 OR2B11 Nonsynonymous SNV S22F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 211687 chr2 85843569 85843569 C T rs773376009 USP39 Nonsynonymous SNV P84L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 211688 chr4 10089340 10089340 G A rs751183314 WDR1 Synonymous SNV H174H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.223 211689 chr2 86444165 86444165 C T REEP1 Synonymous SNV T143T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 211690 chr2 86693990 86693990 C G rs768521539 KDM3A Nonsynonymous SNV N501K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 211691 chr19 36611629 36611629 C T rs2231573 TBCB Synonymous SNV G92G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.86 211692 chr1 159163314 159163314 C T rs3026987 CADM3 Nonsynonymous SNV R162W 0.005 0.005 0 3 6 2 0.008 0 0 0 0 0 32 211693 chr19 36940788 36940788 G A rs144139084 ZNF566 Synonymous SNV S12S 0 0.008 0.003 1 0 3 0.003 1 0 0 0 0 0.561 211694 chr1 159284359 159284359 - AACAAAG OR10J3 Frameshift insertion V31Lfs*43 0.003 0.003 0 0 4 1 0 0 0 0 0 0 211695 chr16 19528437 19528437 G A rs140018117 GDE1 Synonymous SNV H2H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 211696 chr1 248201678 248201678 G T rs541255854 OR2L2 Nonsynonymous SNV A37S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.784 211697 chr16 19775192 19775192 C T rs773944844 IQCK Nonsynonymous SNV A78V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 211698 chr16 20360198 20360198 C T rs199835347 UMOD Nonsynonymous SNV R142Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 6.531 211699 chr16 20811664 20811664 A G rs746498617 ERI2 Nonsynonymous SNV V174A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.946 211700 chr1 161022546 161022546 G A rs747362973 ARHGAP30 Nonsynonymous SNV R59W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 211701 chr1 161135156 161135156 T C rs749801465 USP21 Synonymous SNV P568P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.36 211702 chr1 2541142 2541142 C T rs562843832 MMEL1 Nonsynonymous SNV V141I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.144 211703 chr17 26881272 26881272 C T rs202057961 PIGS Nonsynonymous SNV R545H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.14 211704 chr1 26515959 26515959 T C rs1021826668 CNKSR1 Nonsynonymous SNV S695P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 211705 chr1 240072509 240072509 C T rs200553848 CHRM3 Synonymous SNV P586P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 3.903 211706 chr16 23546609 23546609 C T rs374363396 EARS2 Synonymous SNV A186A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.045 211707 chr19 34833022 34833022 A G rs145625075 KIAA0355 Nonsynonymous SNV Q728R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.22 211708 chr1 29447710 29447710 C T rs370894777 TMEM200B Nonsynonymous SNV A211T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 211709 chr17 33328416 33328416 A G rs3136022 LIG3 Synonymous SNV Q824Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.393 211710 chr17 33329049 33329049 G A rs3136025 LIG3 Nonsynonymous SNV R867H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.726 211711 chr17 33454230 33454230 G A rs12952106 FNDC8 Nonsynonymous SNV A127T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 211712 chr17 33454247 33454247 T C rs12945175 FNDC8 Synonymous SNV N132N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 211713 chr1 31189700 31189700 C T rs138096521 MATN1 Nonsynonymous SNV G243S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 211714 chr1 171621443 171621443 G A rs368702811 MYOC Synonymous SNV T103T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.798 211715 chr16 29883776 29883776 C T SEZ6L2 Nonsynonymous SNV G753S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 211716 chr19 40412085 40412085 C T rs34117194 FCGBP Synonymous SNV E1181E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.3 211717 chr19 40480659 40480659 C A rs748197012 PSMC4 Synonymous SNV P199P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.77 211718 chr1 32646858 32646858 - GGCTCAGTCTGG rs763238131 TXLNA A67_L68insQSGA 0.003 0 0.003 0 3 0 0 1 0 0 0 0 211719 chr19 36051748 36051748 G A rs1029164457 ATP4A Synonymous SNV I169I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 211720 chr16 30005050 30005050 C A rs529203258 HIRIP3 Nonsynonymous SNV R440L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 211721 chr19 36111163 36111163 C T HAUS5 Nonsynonymous SNV R529W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 211722 chr19 36239640 36239640 G T LIN37 Nonsynonymous SNV K5N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 211723 chr3 113379497 113379497 G A rs1024370093 USF3 Synonymous SNV C344C 0.003 0 0 3 4 0 0.008 0 0 0 0 0 2.506 211724 chr16 30566977 30566977 G A ZNF764 Synonymous SNV G254G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.469 211725 chr16 30770380 30770380 G A rs565882864 CCDC189 Nonsynonymous SNV P257L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.172 211726 chr17 38100783 38100783 G A LRRC3C Synonymous SNV E208E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.147 211727 chr1 179782975 179782975 A T rs755292830 FAM163A Nonsynonymous SNV D52V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 211728 chr1 248059609 248059609 T C rs781248919 OR2W3 Nonsynonymous SNV C241R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 211729 chr4 144619804 144619804 A G rs770067095 FREM3 Synonymous SNV H675H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.051 211730 chr16 50828329 50828329 C T CYLD Synonymous SNV A889A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 211731 chr1 38197213 38197213 C T rs374180883 EPHA10 Synonymous SNV A511A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 211732 chr1 248487443 248487443 A C rs138046249 OR2M7 Nonsynonymous SNV L143R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.612 211733 chr16 58200503 58200503 T C rs375864630 CSNK2A2 Nonsynonymous SNV N271S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 211734 chr19 41306833 41306833 G A rs765879153 EGLN2 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 211735 chr16 67207911 67207911 G C rs766501908 NOL3 Nonsynonymous SNV G47A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.127 211736 chr17 40255813 40255813 G T rs142453995 DHX58 Synonymous SNV R523R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.63 211737 chr16 67979103 67979103 C T rs370595857 SLC12A4 Nonsynonymous SNV R1020H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 211738 chr16 69202768 69202768 A G rs761996293 UTP4 Synonymous SNV A580A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.547 211739 chr1 47689731 47689731 G C rs41289394 TAL1 Synonymous SNV T3T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.879 211740 chr17 41606065 41606065 G A rs117364926 ETV4 Nonsynonymous SNV A149V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 211741 chr1 55072835 55072835 G A rs747945837 ACOT11 Nonsynonymous SNV E467K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 211742 chr16 72138441 72138441 G A rs199994362 DHX38 Synonymous SNV A689A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 211743 chr1 57417794 57417794 C G rs371177945 C8B Nonsynonymous SNV G198A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 211744 chr1 57431534 57431534 A G rs777601897 C8B Nonsynonymous SNV S30P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.1 211745 chr16 75589979 75589979 G A rs377440297 TMEM231 Nonsynonymous SNV S64F 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 22 211746 chr1 59042391 59042391 A C rs115606722 TACSTD2 Nonsynonymous SNV D146E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.03 211747 chr19 44681161 44681161 G A rs200558002 ZNF226 Synonymous SNV T582T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.653 211748 chr19 44831917 44831917 G C rs753236152 ZNF112 Nonsynonymous SNV P737R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.3 211749 chr4 2451685 2451685 G A rs866413432 CFAP99 Nonsynonymous SNV E250K 0.003 0 0 0 3 0 0 0 0 0 0 0 8.573 211750 chr7 11452357 11452357 G T THSD7A Nonsynonymous SNV S1203Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 211751 chr3 143185878 143185878 C T SLC9A9 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 211752 chr19 50099125 50099125 C T rs766239966 PRR12 Synonymous SNV G511G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.25 211753 chr4 3134323 3134323 C T rs554758989 HTT Synonymous SNV I757I 0.003 0 0 0 3 0 0 0 0 0 0 0 18.27 211754 chr19 50143295 50143295 G A RRAS Nonsynonymous SNV P21S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 22.8 211755 chr1 214556797 214556797 C T rs142432691 PTPN14 Nonsynonymous SNV G801R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 211756 chr1 214818328 214818328 A G CENPF Synonymous SNV K1805K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.732 211757 chr17 51900627 51900627 T C rs554238256 KIF2B Nonsynonymous SNV L78P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.64 211758 chr4 3475339 3475339 C T rs777229686 DOK7 Nonsynonymous SNV R103W 0.003 0 0 0 3 0 0 0 0 0 0 0 31 211759 chr19 50493005 50493005 G A rs780971037 VRK3 Synonymous SNV F279F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 14.17 211760 chr3 15071868 15071868 G A rs749965858 NR2C2 Nonsynonymous SNV G340E 0 0 0 2 0 0 0.005 0 0 0 0 0 13.31 211761 chr19 50792755 50792755 G C rs762607266 MYH14 Nonsynonymous SNV Q1564H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.2 211762 chr17 54940127 54940127 A G rs61751972 DGKE Nonsynonymous SNV Q560R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 16.24 211763 chr7 127224647 127224647 A G rs777111047 GCC1 Nonsynonymous SNV L197S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.84 211764 chr19 47883157 47883157 - GGAGGA rs778343320 DHX34 E971_D972insEE 0.002 0 0 0 2 0 0 0 0 0 0 0 211765 chr7 128480629 128480629 G A rs34932223 FLNC Nonsynonymous SNV R526Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.14 211766 chr7 128490110 128490110 C T rs563285308 FLNC Synonymous SNV G1760G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.12 211767 chr7 128491471 128491473 GGC - rs573719427 FLNC-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 211768 chr16 88503394 88503394 C T rs577913880 ZNF469 Synonymous SNV A3172A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.95 211769 chr4 40778204 40778204 T C NSUN7 Nonsynonymous SNV F322L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.4 211770 chr19 49142855 49142855 G A rs146524258 CA11 Synonymous SNV F197F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 211771 chr1 86954743 86954743 A G rs771479099 CLCA1 Nonsynonymous SNV N416S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 211772 chr4 46930323 46930323 G A GABRA4 Synonymous SNV V458V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.03 211773 chr16 89346775 89346775 G A ANKRD11 Nonsynonymous SNV P2059S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.847 211774 chr16 89761368 89761368 G A rs140174745 CDK10 Synonymous SNV Q203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.609 211775 chr7 141730482 141730482 T C rs782384433 MGAM Synonymous SNV Y465Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.149 211776 chr1 233122171 233122171 C T rs371436171 PCNX2 Synonymous SNV T1969T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.7 211777 chr19 51770750 51770750 C T rs761206565 SIGLECL1 Synonymous SNV P84P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 211778 chr4 6718401 6718401 G A rs35116359 BLOC1S4 Synonymous SNV Q155Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.313 211779 chr20 17474818 17474818 C T rs140475302 BFSP1 Synonymous SNV T508T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 211780 chr17 2298472 2298472 G A rs753921763 MNT Nonsynonymous SNV A117V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.114 211781 chr3 189706748 189706748 G A rs546454555 P3H2 Synonymous SNV I120I 0 0 0 2 0 0 0.005 0 0 0 0 0 9.95 211782 chr3 189838441 189838441 G A P3H2 Nonsynonymous SNV P27L 0 0 0 2 0 0 0.005 0 0 0 0 0 21.6 211783 chr17 3324329 3324329 G A rs750819545 OR3A3 Synonymous SNV A156A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.196 211784 chr20 19972936 19972936 T C rs374245909 RIN2 Synonymous SNV H731H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.307 211785 chr20 20257962 20257962 G T rs78741533 CFAP61 Nonsynonymous SNV V886L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 211786 chr17 3651297 3651297 C T rs141709145 ITGAE Nonsynonymous SNV A692T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 211787 chr17 3653760 3653760 G A rs142383038 ITGAE Nonsynonymous SNV T637M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.596 211788 chr1 241797397 241797397 C A rs375630300 CHML Nonsynonymous SNV D558Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 211789 chr17 3749426 3749426 C A NCBP3 Nonsynonymous SNV G31V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 211790 chr20 23350877 23350877 C T GZF1 Nonsynonymous SNV A630V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 211791 chr4 76570801 76570801 C G rs541924504 G3BP2 Nonsynonymous SNV G388A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 211792 chr20 25000664 25000664 G A rs144532629 ACSS1 Synonymous SNV L289L 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 9.827 211793 chr4 76877147 76877147 C T rs141894098 SDAD1 Nonsynonymous SNV R629H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 211794 chr17 4356341 4356341 C T rs61995689 SPNS3 Synonymous SNV T191T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 211795 chr17 4535298 4535298 C T rs147458306 ALOX15 Synonymous SNV P565P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.38 211796 chr19 53770173 53770173 G T rs767172859 VN1R4 Nonsynonymous SNV S249Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 211797 chr20 30607167 30607167 C T rs746146760 CCM2L Synonymous SNV S296S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.56 211798 chr19 54617845 54617845 G C TFPT Nonsynonymous SNV R78G 0.001 0 0 0 1 0 0 0 0 0 0 0 29 211799 chr17 4803299 4803299 - C rs201204280 C17orf107 Frameshift insertion Q46Pfs*197 0.001 0 0 0 1 0 0 0 0 0 0 0 211800 chr17 4863540 4863540 T C rs73343382 SPAG7 Nonsynonymous SNV I106V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 6.483 211801 chr17 4863574 4863574 G A rs73343383 SPAG7 Synonymous SNV S94S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 11.06 211802 chr17 4918122 4918122 A G rs57144955 KIF1C Synonymous SNV P552P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 7.505 211803 chr20 33872238 33872238 T C rs143234154 EIF6 Nonsynonymous SNV K18R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 211804 chr4 83350735 83350743 GCCGCGGCG - rs759911561 HNRNPDL P34_R36del 0.004 0 0 0 5 0 0 0 1 0 0 0 211805 chr3 32181798 32181798 C T rs146738300 GPD1L Synonymous SNV L149L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 10.43 211806 chr20 34810265 34810265 C T rs566184663 EPB41L1 Synonymous SNV V760V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.95 211807 chr19 55501984 55501984 G A rs770340590 NLRP2 Synonymous SNV G862G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.972 211808 chr19 56719826 56719826 G A rs199505069 ZSCAN5C Nonsynonymous SNV V250M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.31 211809 chr4 882746 882746 G A rs41286657 GAK Nonsynonymous SNV A286V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.846 211810 chr20 4202658 4202658 G A ADRA1D Nonsynonymous SNV R411C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 211811 chr17 80915350 80915350 C T rs761380761 B3GNTL1 Nonsynonymous SNV R71H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 211812 chr3 40558163 40558163 G C ZNF620 Nonsynonymous SNV G246R 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 211813 chr18 3879984 3879984 G A rs139426614 DLGAP1 Nonsynonymous SNV R29C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 211814 chr4 997137 997137 C T rs794727017 IDUA Nonsynonymous SNV P378L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 211815 chr20 45878126 45878126 G A rs144873781 ZMYND8 Nonsynonymous SNV S488F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 211816 chr20 745894 745894 G A rs143641819 SLC52A3 Synonymous SNV S175S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 9.723 211817 chr2 21224630 21224630 G A APOB Nonsynonymous SNV A4555V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 211818 chr20 50048926 50048926 G C rs141718037 NFATC2 Synonymous SNV P780P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.004 211819 chr3 4699936 4699936 G A rs2306869 ITPR1 Synonymous SNV L360L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 8.752 211820 chr20 1226941 1226941 G C rs185157509 RAD21L1 Nonsynonymous SNV V466L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.29 211821 chr17 10533718 10533718 G A rs375945785 MYH3 Nonsynonymous SNV R1782W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 211822 chr18 29672835 29672835 G T rs151315163 RNF138 Synonymous SNV T32T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.44 211823 chr20 5904164 5904164 G A CHGB Synonymous SNV R458R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 2.421 211824 chr5 132534947 132534947 C - FSTL4 G790Vfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 211825 chr3 52412794 52412794 G A rs201064587 DNAH1 Nonsynonymous SNV E2459K 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 14.04 211826 chr17 20135557 20135557 C T rs541192463 SPECC1 Synonymous SNV T649T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 211827 chr20 18491519 18491519 C T rs121918222 SEC23B Nonsynonymous SNV R14W 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 Pathogenic 34 211828 chr20 2411645 2411645 G A rs150652148 TGM6 Nonsynonymous SNV G647S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 211829 chr7 6194411 6194411 C G rs756462522 USP42 Nonsynonymous SNV P1076A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 211830 chr20 3016296 3016298 GAA - rs763893722 PTPRA K655del 0.001 0 0 0 1 0 0 0 0 0 0 0 211831 chr17 26901785 26901785 G A rs142754133 ALDOC Nonsynonymous SNV R157C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 211832 chr20 3842073 3842073 C G rs138415196 MAVS Synonymous SNV P129P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.325 211833 chr20 5283297 5283297 T C PROKR2 Nonsynonymous SNV I182V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.818 211834 chr20 33879705 33879705 C A rs767160211 FAM83C Nonsynonymous SNV V135L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.65 211835 chr3 72495688 72495688 A G RYBP Synonymous SNV F29F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.756 211836 chr3 73064093 73064093 - ATCC PPP4R2 Frameshift insertion L51Pfs*14 0 0 0 2 0 0 0.005 0 0 0 0 0 211837 chr7 75615019 75615019 C T rs370823127 POR Synonymous SNV G507G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.617 211838 chr3 77637908 77637908 G A rs377753892 ROBO2 Nonsynonymous SNV R836H 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 24.9 211839 chr20 10620522 10620522 C T rs139629694 JAG1 Nonsynonymous SNV R1094Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 211840 chr21 34638436 34638436 - CCA IL10RB-DT 0 0 0.007 0 0 0 0 2 0 0 0 0 211841 chr7 80290495 80290495 A G rs756883385 CD36 Nonsynonymous SNV D133G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.4 211842 chr7 80378343 80378343 T C rs201228749 SEMA3C Synonymous SNV A589A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.06 211843 chr2 70377563 70377563 C T rs181408789 C2orf42 Synonymous SNV A550A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.86 211844 chr17 35902390 35902390 T G rs61753647 SYNRG Synonymous SNV P756P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.194 211845 chr5 149247313 149247313 C T rs146145709 PDE6A Nonsynonymous SNV R750H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 211846 chr7 91788519 91788519 T C LRRD1 0.001 0 0 0 1 0 0 0 0 0 0 0 25 211847 chr4 106395130 106395130 G A PPA2 Synonymous SNV T26T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.76 211848 chr7 99672941 99672941 - A rs143321364 ZNF3 Frameshift insertion G37Wfs*10 0.003 0 0.014 0 3 0 0 4 0 0 1 0 211849 chr7 99689385 99689385 C G rs61749908 COPS6 Synonymous SNV G319G 0.003 0 0.014 0 3 0 0 4 0 0 1 0 6.545 211850 chr7 99691007 99691007 C T rs2307349 MCM7 Synonymous SNV V446V 0.003 0 0.014 0 3 0 0 4 0 0 1 0 Benign 11.56 211851 chr7 99707682 99707682 C T rs4134920 TAF6 Synonymous SNV L428L 0.003 0 0.014 0 3 0 0 4 0 0 1 0 8.214 211852 chr7 99722420 99722425 AGGAGG - rs141457365 CNPY4 E228_E229del 0.003 0 0.014 0 3 0 0 4 0 0 1 0 211853 chr7 99768939 99768939 G A rs77487872 GPC2 Synonymous SNV A477A 0.002 0 0.01 0 2 0 0 3 0 0 1 0 10.63 211854 chr4 1087635 1087635 C G rs932230751 RNF212 Nonsynonymous SNV Q138H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.144 211855 chr8 100847959 100847959 G A rs779300264 VPS13B Nonsynonymous SNV G3337E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 31 211856 chr17 39316504 39316504 C T rs375454519 KRTAP4-4 Nonsynonymous SNV R147H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 211857 chr21 46897366 46897366 G A rs375058072 COL18A1 Nonsynonymous SNV G504R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.992 211858 chr20 43251674 43251674 C G rs768814204 ADA Nonsynonymous SNV V83L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 211859 chr4 1206736 1206736 G A rs367988327 CTBP1 Synonymous SNV A368A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 14.29 211860 chr20 60989567 60989567 C T rs201807836 RBBP8NL Synonymous SNV P280P 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 10.51 211861 chr20 61389691 61389691 G A rs113016803 NTSR1 Synonymous SNV S330S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Likely benign 13.83 211862 chr22 17619076 17619076 C G rs16982020 HDHD5 Nonsynonymous SNV R339S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.937 211863 chr22 18028759 18028759 G A rs373544152 CECR2 Nonsynonymous SNV R1097H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.993 211864 chr5 16694696 16694696 C T rs762454162 MYO10 Nonsynonymous SNV R1195H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 211865 chr4 126336105 126336105 A G rs140055438 FAT4 Nonsynonymous SNV K1996R 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.457 211866 chr4 126367606 126367606 G T rs72914988 FAT4 Nonsynonymous SNV S2453I 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 25 211867 chr2 109399211 109399211 A G RANBP2 Nonsynonymous SNV I3088V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 211868 chr4 126370100 126370100 C T rs146157250 FAT4 Synonymous SNV D2645D 0 0 0 4 0 0 0.01 0 0 0 0 0 Benign/Likely benign 11.33 211869 chr4 126400922 126400922 C T rs115822434 FAT4 Nonsynonymous SNV T4169I 0 0 0 4 0 0 0.01 0 0 0 0 0 Benign 15.49 211870 chr4 126412671 126412671 C T rs149897030 FAT4 Synonymous SNV A4899A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.99 211871 chr20 47691954 47691954 C G rs556573084 CSE1L Nonsynonymous SNV S355C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 211872 chr20 62200582 62200582 G C HELZ2 Nonsynonymous SNV P336R 0 0.01 0 4 0 4 0.01 0 0 0 0 0 17.04 211873 chr17 40458387 40458387 G A rs769309129 STAT5A Synonymous SNV A504A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.01 211874 chr17 40939538 40939538 C T rs56243382 WNK4 Synonymous SNV H237H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.19 211875 chr5 176011754 176011754 G A CDHR2 Synonymous SNV Q824Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.161 211876 chr21 15746257 15746257 G A rs370880499 HSPA13 Nonsynonymous SNV S366L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.7 211877 chr21 15753630 15753630 A C HSPA13 Nonsynonymous SNV L87R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.6 211878 chr20 55099969 55099969 G A rs761556362 FAM209A Synonymous SNV K35K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.813 211879 chr20 55108502 55108502 G A rs776754362 FAM209B Synonymous SNV K35K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.72 211880 chr21 32638520 32638522 AGT - rs746376907 TIAM1 Y256del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 211881 chr20 58490556 58490556 C T rs200205398 SYCP2 Nonsynonymous SNV R188Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 211882 chr19 5827789 5827789 G A rs756883185 NRTN Nonsynonymous SNV A67T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.8 211883 chr17 47780600 47780600 C G SLC35B1 Nonsynonymous SNV A171P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.985 211884 chr19 5827876 5827876 G T rs575363266 NRTN Nonsynonymous SNV A96S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.16 211885 chr21 35208816 35208816 A G rs763908413 ITSN1 Nonsynonymous SNV I1105V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.04 211886 chr19 56125165 56125165 - GCCC ZNF865 Frameshift insertion A61Gfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 211887 chr19 56125179 56125179 G C rs780026685 ZNF865 Synonymous SNV P65P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.276 211888 chr19 56125182 56125182 G C ZNF865 Synonymous SNV P66P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.734 211889 chr19 56125184 56125185 AG - ZNF865 Q67Pfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 211890 chr21 35742938 35742938 T C rs74315447 KCNE2 Nonsynonymous SNV M54T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity, risk factor 24.8 211891 chr5 180622323 180622323 C G TRIM7 Nonsynonymous SNV R278P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.5 211892 chr4 167921517 167921517 G A rs777139850 SPOCK3 Synonymous SNV H22H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.204 211893 chr5 32088962 32088962 A G rs762079561 PDZD2 Nonsynonymous SNV K1803R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 211894 chr2 152537332 152537332 C T rs769987120 NEB Nonsynonymous SNV R985H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 211895 chr21 41505830 41505830 T G DSCAM Synonymous SNV A1171A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.844 211896 chr17 56649352 56649352 C T rs187298992 TEX14 Nonsynonymous SNV R1216Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 211897 chr17 56665303 56665303 G A rs147134383 TEX14 Nonsynonymous SNV R892W 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 211898 chr5 36677044 36677044 C T rs771356548 SLC1A3 Synonymous SNV N160N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.816 211899 chr5 36984845 36984845 T C rs748959339 NIPBL Synonymous SNV N521N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 211900 chr21 15561525 15561525 A G rs142855575 LIPI Nonsynonymous SNV S88P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 211901 chr17 63186330 63186330 T C RGS9 Nonsynonymous SNV V238A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 211902 chr22 41652250 41652250 C T rs2066780 RANGAP1 Synonymous SNV L311L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 14.95 211903 chr21 40190428 40190428 G A rs746824654 ETS2 Synonymous SNV P223P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.362 211904 chr21 40191548 40191548 C T rs113417859 ETS2 Synonymous SNV F311F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.09 211905 chr5 54529296 54529296 C T CCNO Nonsynonymous SNV R19Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 211906 chr2 179429956 179429956 A G rs369539943 TTN Nonsynonymous SNV I17903T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.96 211907 chr2 179498022 179498022 G A rs369959066 TTN Synonymous SNV Y5261Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.602 211908 chr22 46792600 46792600 G A rs374025252 CELSR1 Synonymous SNV P1915P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.18 211909 chr4 3526761 3526761 C T rs373510897 LRPAP1 Synonymous SNV V74V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.05 211910 chr22 50962679 50962679 G A rs139545104 SCO2 Synonymous SNV G54G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.35 211911 chr21 44182268 44182268 C T PDE9A Synonymous SNV A170A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 211912 chr21 45401004 45401004 C G rs910873540 AGPAT3 Synonymous SNV V326V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.69 211913 chr21 45651257 45651257 C T rs144780907 ICOSLG, LOC102723996 Synonymous SNV T139T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 211914 chr21 45668911 45668911 C T rs61744900 DNMT3L Synonymous SNV R331R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.525 211915 chr5 79028807 79028807 G T rs751088965 CMYA5 Nonsynonymous SNV A1407S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 211916 chr21 45784141 45784141 G A rs45551339 TRPM2 Synonymous SNV T133T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.248 211917 chr22 24037130 24037130 C T rs185031900 GUSBP11 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 3.882 211918 chr22 24562844 24562844 G A rs142275051 CABIN1 Nonsynonymous SNV D1699N 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 14.06 211919 chr21 46308795 46308795 G A rs17004713 ITGB2 Synonymous SNV C631C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.973 211920 chr21 46310008 46310008 G A rs2230530 ITGB2 Synonymous SNV C514C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.4 211921 chr21 46313371 46313371 G A rs141201564 ITGB2 Nonsynonymous SNV T391M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.28 211922 chr2 109527457 109527457 C T rs770292889 EDAR Nonsynonymous SNV A201T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 211923 chr19 10676617 10676617 T C KRI1 Nonsynonymous SNV Y20C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 211924 chr4 5633732 5633732 G T rs148248777 EVC2 Synonymous SNV R420R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.642 211925 chr2 11245664 11245664 A T rs551636449 FLJ33534 0 0 0.003 0 0 0 0 1 0 0 0 0 1.797 211926 chr19 11325073 11325073 A C rs34479977 DOCK6 Nonsynonymous SNV S1406A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 6.493 211927 chr19 11325235 11325235 G A rs35583018 DOCK6 Synonymous SNV I1399I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.9 211928 chr19 11350326 11350326 G A rs59168178 ANGPTL8 Nonsynonymous SNV A5T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.115 211929 chr19 11350433 11350433 T C rs1541922 ANGPTL8 Synonymous SNV H40H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.131 211930 chr19 11350953 11350953 G A rs34056604 ANGPTL8 Nonsynonymous SNV R147Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.18 211931 chr21 47848348 47848348 C G PCNT Nonsynonymous SNV P2394A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.001 211932 chr19 12059773 12059773 G A ZNF700 Nonsynonymous SNV G315R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 211933 chr6 101296386 101296386 T G rs747733965 ASCC3 Nonsynonymous SNV T147P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 211934 chr22 19183845 19183845 - A rs782734868 CLTCL1 Frameshift insertion V1375Cfs*10 0.002 0 0.003 0 2 0 0 1 0 0 0 0 211935 chr22 32802666 32802666 T C RTCB Nonsynonymous SNV E108G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.8 211936 chr6 107103544 107103544 G A rs72946534 QRSL1 Nonsynonymous SNV R366Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.7 211937 chr22 35661258 35661258 G A HMGXB4 Nonsynonymous SNV E184K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 211938 chr22 36054741 36054741 A G rs114524776 APOL6 Nonsynonymous SNV R44G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.35 211939 chr2 136575079 136575079 C T rs202186209 LCT Synonymous SNV E513E 0 0 0.007 0 0 0 0 2 0 0 0 0 6.239 211940 chr20 45133292 45133292 C T rs148860826 ZNF334 Nonsynonymous SNV G14E 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 211941 chr2 152346924 152346924 G A rs949111967 NEB Nonsynonymous SNV S6564L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 211942 chr6 112499338 112499338 T C LAMA4 Nonsynonymous SNV R392G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 211943 chr2 152397288 152397288 C T rs781368292 NEB Nonsynonymous SNV E5203K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 211944 chr20 46290619 46290619 G A rs747870020 SULF2 Synonymous SNV L798L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.817 211945 chr22 38382261 38382261 G A POLR2F Nonsynonymous SNV A132T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 211946 chr20 48156134 48156134 T G rs753002390 PTGIS Nonsynonymous SNV K216Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 211947 chr2 15523417 15523417 A G rs139891797 NBAS Synonymous SNV H1094H 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 4.342 211948 chr18 8113669 8113669 A G rs138889023 PTPRM Nonsynonymous SNV N681S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 211949 chr8 8185715 8185715 G T rs201657603 PRAG1 Nonsynonymous SNV H859Q 0.003 0 0 0 3 0 0 0 0 0 0 0 11.34 211950 chr2 220428324 220428324 G A OBSL1 Synonymous SNV P811P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.665 211951 chr6 126210385 126210385 C T rs377050665 NCOA7 Synonymous SNV S280S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.32 211952 chr2 225244614 225244614 G A rs150364918 FAM124B Synonymous SNV L348L 0.003 0.003 0.007 2 4 1 0.005 2 0 0 0 0 2.09 211953 chr6 127898612 127898612 T C rs375648114 C6orf58 Synonymous SNV Y94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.249 211954 chr19 17716986 17716986 G A rs767832908 UNC13A Synonymous SNV D1663D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.27 211955 chr2 165544253 165544253 A T rs141390807 SNORA70F 0 0 0.007 0 0 0 0 2 0 0 0 0 0.263 211956 chr18 19076592 19076592 C T rs771484777 GREB1L Synonymous SNV D1108D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.269 211957 chr6 131277390 131277390 G A rs144686133 EPB41L2 Nonsynonymous SNV P79L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 211958 chr18 21426372 21426372 C T rs768373305 LAMA3 Synonymous SNV H1277H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.681 211959 chr6 132891977 132891977 T C rs41298397 TAAR6 Nonsynonymous SNV Y173H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.31 211960 chr4 858975 858975 A G rs754796846 GAK Nonsynonymous SNV L955P 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 211961 chr18 28587997 28587997 G A rs745420051 DSC3 Synonymous SNV L550L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.259 211962 chr9 101594229 101594229 G A rs145236923 GALNT12 Nonsynonymous SNV D303N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 211963 chr18 29218693 29218693 G A rs115568058 B4GALT6 Nonsynonymous SNV H129Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 211964 chr19 21719757 21719757 C G rs964422158 ZNF429 Nonsynonymous SNV T237S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.35 211965 chr2 179427316 179427316 A G rs397517723 TTN Nonsynonymous SNV I18783T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 16.65 211966 chr6 150464419 150464419 G T PPP1R14C Nonsynonymous SNV G31C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 211967 chr2 183848017 183848017 G T rs372590876 NCKAP1 Synonymous SNV P366P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 211968 chr18 55321237 55321237 C T ATP8B1 Nonsynonymous SNV G951E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 211969 chr22 43614435 43614435 G A rs778792675 SCUBE1 Stop gain R573X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 211970 chr2 190335556 190335556 A G rs146714129 WDR75 Synonymous SNV T667T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.485 211971 chr2 242743237 242743237 C A rs550417478 GAL3ST2 Nonsynonymous SNV H285N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 211972 chr9 124522649 124522649 C T rs150428926 DAB2IP Synonymous SNV L243L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.74 211973 chr22 45750005 45750005 C A SMC1B Nonsynonymous SNV E1042D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 211974 chr3 3133989 3133989 C T rs145815803 IL5RA Nonsynonymous SNV D305N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 211975 chrX 30269528 30269528 G - MAGEB1 A307Lfs*2 0 0.003 0 1 0 1 0.003 0 0 0 0 0 211976 chr5 127648414 127648414 G A rs147040906 FBN2 Synonymous SNV I1597I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign/Likely benign 13.99 211977 chr6 161135876 161135876 A G rs149145958 PLG Nonsynonymous SNV T200A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 211978 chr22 50616481 50616481 T C PANX2 Nonsynonymous SNV L447P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 211979 chr9 125681920 125681920 C T ZBTB26 Nonsynonymous SNV M98I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 211980 chrX 55650354 55650354 T C rs757939829 FOXR2 Synonymous SNV D70D 0.002 0.008 0 5 2 3 0.013 0 1 1 0 2 0.004 211981 chr5 137523055 137523055 C T KIF20A Nonsynonymous SNV R876W 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.2 211982 chr6 168377271 168377271 - AGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA rs766050036 HGC6.3 A20_S21insFFSSPNTAGGMTPTA 0.001 0 0 0 1 0 0 0 0 0 0 0 211983 chrX 9707719 9707719 G C GPR143 Nonsynonymous SNV A309G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 211984 chr5 140625744 140625744 C T rs145773606 PCDHB15 Synonymous SNV L200L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.14 211985 chr19 757516 757516 G C rs371906123 MISP Nonsynonymous SNV Q190H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 211986 chr5 141024438 141024438 G C rs372761136 FCHSD1 Nonsynonymous SNV D504E 0.001 0 0 4 1 0 0.01 0 0 0 0 0 7.36 211987 chrX 125955070 125955070 G T PRR32 Nonsynonymous SNV G150V 0.002 0.01 0 3 2 4 0.008 0 1 1 0 1 0.024 211988 chr5 145834656 145834656 G A rs142965066 TCERG1 Nonsynonymous SNV A33T 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 27.5 211989 chrX 39923039 39923039 C T rs372032523 BCOR Synonymous SNV S1171S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.717 211990 chr19 1014284 1014284 C T rs769956808 TMEM259 Synonymous SNV P138P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 211991 chrX 135431997 135431997 A G rs912676361 ADGRG4 Synonymous SNV T2044T 0 0.008 0 4 0 3 0.01 0 0 1 0 2 0.628 211992 chr19 42266120 42266120 T A rs149127408 CEACAM6 Nonsynonymous SNV I316N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 211993 chrX 135736533 135736533 A G rs1004051141 CD40LG Nonsynonymous SNV D97G 0.002 0.008 0 4 2 3 0.01 0 0 1 0 2 1.394 211994 chr19 42729380 42729380 C T rs138082392 ZNF526 Synonymous SNV C275C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.54 211995 chr19 42874936 42874936 C T rs138235390 MEGF8 Synonymous SNV C2296C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.21 211996 chr19 42905974 42905974 C G rs201301144 LIPE Nonsynonymous SNV G1074A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 23.4 211997 chrX 50350638 50350638 G A rs141453548 SHROOM4 Synonymous SNV T1168T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 2.44 211998 chrX 53111883 53111883 C T TSPYL2 Nonsynonymous SNV P68L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.23 211999 chrX 53566722 53566722 T G HUWE1 Nonsynonymous SNV E3843A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 212000 chr3 38158476 38158476 C A DLEC1 Nonsynonymous SNV A1400D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 212001 chr3 38307398 38307398 G A rs72542450 SLC22A13 Nonsynonymous SNV R16H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.96 212002 chr19 1122191 1122191 G A rs746705782 SBNO2 Nonsynonymous SNV R309C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 212003 chrX 54956564 54956564 G T rs200531038 TRO Nonsynonymous SNV S667I 0.003 0 0 1 3 0 0.003 0 1 0 0 0 24.3 212004 chr2 224463820 224463820 A G rs16864976 SCG2 Nonsynonymous SNV Y61H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 212005 chr5 149743806 149743806 G A rs112332762 TCOF1 Nonsynonymous SNV A99T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 0.108 212006 chr9 136004582 136004582 C T rs762902288 RALGDS Nonsynonymous SNV A42T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.012 212007 chr6 34508821 34508821 G A rs7751270 SPDEF Nonsynonymous SNV R192C 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23.4 212008 chr6 34511928 34511928 G A rs772048340 SPDEF Nonsynonymous SNV A102V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 212009 chrX 71350865 71350865 C G rs776392904 RTL5 Nonsynonymous SNV D176H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 212010 chr6 35443826 35443826 G A rs201199829 TEAD3 Nonsynonymous SNV A257V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 212011 chr9 137313524 137313524 G A rs748602356 RXRA Synonymous SNV P164P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.595 212012 chr6 36076169 36076169 A G rs45496794 MAPK14 Nonsynonymous SNV D343G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.5 212013 chr2 137852652 137852652 C A rs140063610 THSD7B Nonsynonymous SNV A387D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 212014 chr19 3744029 3744029 G A rs574919727 TJP3 Nonsynonymous SNV A646T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 212015 chr9 139233121 139233121 G A rs782543348 GPSM1 Nonsynonymous SNV E310K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 212016 chr9 139717981 139717981 G A rs74416852 RABL6 Synonymous SNV K45K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.986 212017 chrX 105153552 105153552 T C rs1039379201 NRK Nonsynonymous SNV I640T 0.003 0 0 0 4 0 0 0 1 0 0 0 22.5 212018 chr19 4508868 4508868 C T rs368533613 PLIN4 Nonsynonymous SNV R1205Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 212019 chr5 167689078 167689078 A G rs148040985 TENM2 Nonsynonymous SNV T2291A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.11 212020 chr9 140245539 140245539 A C EXD3 Nonsynonymous SNV V482G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 212021 chr6 4069437 4069437 A C rs149145074 FAM217A Nonsynonymous SNV S340R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 212022 chr9 14747315 14747315 G A rs375669260 FREM1 Synonymous SNV L472L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.112 212023 chr2 238820350 238820350 G A rs61758798 RAMP1 Synonymous SNV V124V 0 0 0.007 0 0 0 0 2 0 0 0 0 2.098 212024 chr19 5783695 5783695 G T rs116676566 PRR22 Nonsynonymous SNV P188H 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 21.4 212025 chr3 49161004 49161004 C A rs34967349 LAMB2 Synonymous SNV V1286V 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 9.378 212026 chr9 19528132 19528132 G C rs375718862 SLC24A2 Nonsynonymous SNV S478W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 212027 chr3 50289956 50289956 G A rs782148570 GNAI2 Nonsynonymous SNV D16N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 212028 chr6 44243577 44243577 G C rs751382130 TMEM151B Synonymous SNV P338P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 212029 chr2 241865211 241865211 G A rs56199645 CROCC2 Nonsynonymous SNV A187T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.077 212030 chr1 10042599 10042599 G A rs751644763 NMNAT1 Nonsynonymous SNV R227Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 212031 chr3 52014907 52014907 T G rs34149506 ABHD14A Nonsynonymous SNV L230R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 212032 chr19 7712321 7712321 C T rs374131788 STXBP2 Synonymous SNV G537G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.25 212033 chr2 242182034 242182034 G T rs142118765 HDLBP Synonymous SNV G637G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 1.673 212034 chr3 52439216 52439216 G A rs71651686 BAP1 Synonymous SNV S342S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 4.73 212035 chr2 242380944 242380944 G A rs753336505 FARP2 Nonsynonymous SNV G462R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 212036 chr3 52555418 52555418 G A rs142954501 STAB1 Nonsynonymous SNV V1984M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.139 212037 chr5 179043128 179043128 G A rs568172786 HNRNPH1 Synonymous SNV Y413Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.096 212038 chr19 50302999 50302999 A G rs141155718 AP2A1 Synonymous SNV A416A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.015 212039 chr5 179688695 179688695 T C MAPK9 Nonsynonymous SNV I147V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 212040 chr19 50364721 50364721 A C rs3739206 PNKP Nonsynonymous SNV V478G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 25.2 212041 chr3 53531243 53531243 T C rs377363390 CACNA1D Synonymous SNV N44N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.281 212042 chr5 1815982 1815982 C T rs565688388 NDUFS6 Synonymous SNV T109T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.944 212043 chr9 37974686 37974686 G A rs752142144 SHB Synonymous SNV D329D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.244 212044 chr2 28824816 28824816 C T rs151069396 PLB1 Synonymous SNV D875D 0 0 0.01 0 0 0 0 3 0 0 0 0 10.16 212045 chr1 15687099 15687099 C T rs564833185 FHAD1 Synonymous SNV H932H 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 13.83 212046 chr5 33891860 33891860 C T rs762465767 ADAMTS12 Synonymous SNV P34P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.02 212047 chr9 78917107 78917107 G C rs11144823 PCSK5 Nonsynonymous SNV R1193P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 212048 chr6 73951320 73951320 C T rs373674170 KHDC1 Nonsynonymous SNV V143I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 212049 chr3 93715514 93715514 G A rs543349219 ARL13B Nonsynonymous SNV R24H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.283 212050 chr2 36818142 36818142 G T rs200761995 FEZ2 Synonymous SNV A93A 0 0 0.007 3 0 0 0.008 2 0 0 0 0 15.26 212051 chr19 52537818 52537818 G A rs780440071 ZNF432 Nonsynonymous SNV P372S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 212052 chr9 79836131 79836131 A G rs76751358 VPS13A Synonymous SNV E340E 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 6.047 212053 chr9 79930225 79930225 G A rs76077278 VPS13A Nonsynonymous SNV R1451K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.374 212054 chr9 80881519 80881519 T C rs57666183 CEP78 Synonymous SNV C653C 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.078 212055 chr2 44507991 44507991 G C rs143195837 SLC3A1 Synonymous SNV T189T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.299 212056 chr19 53453764 53453764 C T rs145074022 ZNF816 Nonsynonymous SNV E422K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 212057 chr19 10503997 10503997 G A rs143134175 CDC37 Nonsynonymous SNV R283C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 212058 chr19 11031540 11031540 C T rs769280912 CARM1 Synonymous SNV P485P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 212059 chr19 54074896 54074896 T C ZNF331 Synonymous SNV S16S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.401 212060 chrX 100274042 100274042 C T rs781546331 TRMT2B Nonsynonymous SNV A436T 0.002 0.003 0 0 2 1 0 0 1 0 0 0 28.6 212061 chr2 59285726 59285726 C A rs147407049 LINC01122 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 212062 chrX 102529250 102529250 T A rs752625073 TCEAL5 Nonsynonymous SNV E81V 0.002 0.003 0 0 2 1 0 0 1 0 0 0 15.64 212063 chr19 11687395 11687395 G C ACP5 Nonsynonymous SNV P133R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 212064 chr2 62096576 62096576 A G rs750909691 CCT4 Nonsynonymous SNV V505A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 212065 chr7 100421441 100421441 G A rs542089930 EPHB4 Nonsynonymous SNV P79L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 212066 chr1 26496491 26496491 G A rs2232649 ZNF593 Nonsynonymous SNV R6Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25.7 212067 chr19 12945599 12945599 C T rs141214276 RTBDN Synonymous SNV E26E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.387 212068 chr19 14589512 14589512 G C rs747076298 GIPC1 Nonsynonymous SNV I181M 0.001 0 0 0 1 0 0 0 0 0 0 0 29 212069 chr19 14740891 14740891 C G rs779680624 ADGRE3 Nonsynonymous SNV G465A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 212070 chr2 73478521 73478521 C T rs200761109 CCT7 Synonymous SNV A253A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 212071 chr19 55998176 55998176 G T rs530693711 NAT14 Nonsynonymous SNV M158I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.96 212072 chr19 56052270 56052270 A G rs545358153 SBK3 Nonsynonymous SNV M341T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 10.2 212073 chr2 75937780 75937780 C A rs780484648 GCFC2 Nonsynonymous SNV G68C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 212074 chr3 125731518 125731518 C T rs201592486 SLC41A3 Nonsynonymous SNV V313I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.61 212075 chr1 36819984 36819984 T C STK40 Nonsynonymous SNV N207D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.2 212076 chrX 15580115 15580115 T C rs375252585 ACE2 Synonymous SNV G777G 0.002 0 0 0 2 0 0 0 1 0 0 0 0.784 212077 chr19 17321162 17321162 G T rs142274055 MYO9B Synonymous SNV G1923G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 212078 chr3 128780950 128780950 C T rs202229101 GP9 Nonsynonymous SNV P123L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 18.53 212079 chr19 17881640 17881640 C T rs200074791 FCHO1 Nonsynonymous SNV R127C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 212080 chrX 49069139 49069139 G T rs144131971 CACNA1F Synonymous SNV I1310I 0.003 0 0 0 3 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 8.12 212081 chr7 107572734 107572734 C G rs200107269 LAMB1 Nonsynonymous SNV G1426A 0.001 0 0 0 1 0 0 0 0 0 0 0 33 212082 chr19 19746314 19746314 C T rs200565808 GMIP Synonymous SNV A461A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 212083 chr19 59073754 59073754 G A MZF1 Synonymous SNV C630C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.49 212084 chr10 31138577 31138577 C T rs34186436 ZNF438 Nonsynonymous SNV A253T 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 9.557 212085 chr10 32323757 32323757 T A rs35938443 KIF5B Synonymous SNV T324T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.48 212086 chr3 113528189 113528189 T A rs754385106 ATP6V1A Nonsynonymous SNV L590Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 212087 chr10 408623 408623 G A DIP2C Synonymous SNV D867D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.521 212088 chr1 53974882 53974882 C A rs41302766 GLIS1 Nonsynonymous SNV G539V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.238 212089 chr3 121350970 121350970 C A rs41271409 HCLS1 Synonymous SNV V397V 0 0 0.01 1 0 0 0.003 3 0 0 0 0 5.775 212090 chr3 175184835 175184835 A C rs184535725 NAALADL2 Nonsynonymous SNV S466R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 212091 chr7 128449515 128449515 G C rs201409151 CCDC136 Synonymous SNV L539L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 212092 chr19 34263872 34263872 C T rs140955724 CHST8 Synonymous SNV A393A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.328 212093 chr3 127358245 127358245 C G rs751628267 PODXL2 Synonymous SNV A76A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 212094 chr1 64097374 64097374 C G PGM1 Nonsynonymous SNV S219R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 212095 chr6 135265012 135265012 C T rs568113669 ALDH8A1 Synonymous SNV A77A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.98 212096 chr1 67833593 67833593 C G rs771467690 IL12RB2 Synonymous SNV P448P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.771 212097 chr10 118236260 118236260 T C rs778267393 PNLIPRP3 Synonymous SNV H423H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 212098 chr10 120789716 120789716 T G rs771056151 NANOS1 Nonsynonymous SNV C135G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.161 212099 chr19 38386932 38386932 G A WDR87 Nonsynonymous SNV P31L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.205 212100 chr6 150184666 150184666 T C LRP11 Nonsynonymous SNV N164S 0 0 0 1 0 0 0.003 0 0 0 0 0 24 212101 chr10 100020708 100020708 G A rs138201736 LOXL4 Synonymous SNV S211S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 212102 chr2 241676556 241676556 C T rs778239281 KIF1A Nonsynonymous SNV E1210K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 212103 chr3 141162887 141162887 A T ZBTB38 Nonsynonymous SNV N553Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 212104 chr10 100995300 100995300 A G rs140162468 HPSE2 Nonsynonymous SNV I87T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 212105 chr7 142565406 142565406 C T rs149721720 EPHB6 Synonymous SNV I305I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 212106 chr19 39433323 39433323 G A rs765768513 FBXO17 Synonymous SNV D254D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 212107 chr10 71139773 71139773 G A rs771730411 HK1 Nonsynonymous SNV R364H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 212108 chr19 39915876 39915876 A G rs202010025 PLEKHG2, PLEKHG2 Nonsynonymous SNV Q1368R 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 Benign 19.36 212109 chr6 157099426 157099426 - CAG rs587779744 ARID1B Q131_H132insQ 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 212110 chr10 75550827 75550827 G A ZSWIM8 Nonsynonymous SNV G346S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 212111 chr19 41828516 41828516 C A rs762493403 CCDC97 Nonsynonymous SNV P245T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 212112 chr20 34206041 34206041 C T rs140056855 SPAG4 Nonsynonymous SNV P114S 0.004 0.008 0.003 0 5 3 0 1 0 0 0 0 22.9 212113 chr3 170016795 170016795 C A PRKCI Nonsynonymous SNV Q534K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 212114 chr7 155150726 155150726 G C rs192962006 BLACE 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.053 212115 chr10 860921 860921 C T rs200902072 LARP4B Synonymous SNV T595T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 212116 chr6 167728708 167728708 A T rs766514220 UNC93A Nonsynonymous SNV E339V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 25.7 212117 chr7 2415042 2415042 G A rs201791942 EIF3B Synonymous SNV A636A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.204 212118 chr10 124392771 124392771 C T rs370908594 DMBT1 Synonymous SNV P1397P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 212119 chr10 99133357 99133357 G C rs201158292 RRP12 Synonymous SNV T567T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.483 212120 chr3 195460081 195460081 A G MUC20 Nonsynonymous SNV R708G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.52 212121 chr10 99531571 99531571 - CGCCG SFRP5 Frameshift insertion G7Afs*81 0 0.003 0 0 0 1 0 0 0 0 0 0 212122 chr20 57036257 57036257 C T rs776320628 APCDD1L Synonymous SNV Q365Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.883 212123 chr10 29752463 29752463 C T rs146403956 SVIL Nonsynonymous SNV D1653N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 32 212124 chr20 57276100 57276100 G A rs762486795 NPEPL1 Synonymous SNV L236L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.63 212125 chr7 30469046 30469046 C T NOD1 Synonymous SNV K883K 0.003 0 0 0 3 0 0 0 0 0 0 0 12.47 212126 chr7 30492458 30492458 T C rs541711197 NOD1 Nonsynonymous SNV N192S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.09 212127 chr19 47763996 47763996 G A rs750101021 CCDC9 Nonsynonymous SNV R121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 212128 chr19 48205244 48205244 G A rs542928438 BICRA Nonsynonymous SNV A1419T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.499 212129 chr19 48220091 48220091 C A EHD2 Nonsynonymous SNV F74L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 212130 chr2 61275898 61275898 A T PEX13 Nonsynonymous SNV D402V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 212131 chr1 152185617 152185617 T A HRNR Nonsynonymous SNV S2830C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.845 212132 chr20 61513293 61513293 T A rs75790071 DIDO1 Nonsynonymous SNV T1339S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 212133 chr7 38475970 38475970 T C AMPH Nonsynonymous SNV K346E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 212134 chr3 36873359 36873359 T C rs773304814 TRANK1 Nonsynonymous SNV N2528S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 212135 chr10 135083879 135083879 C G rs144605644 ADAM8 Synonymous SNV R551R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.28 212136 chr4 48583468 48583468 C T rs762125572 FRYL Nonsynonymous SNV R714Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 212137 chr3 38748777 38748777 C T rs369399424 SCN10A Nonsynonymous SNV R1362Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 35 212138 chr1 154473929 154473929 T C SHE Nonsynonymous SNV I192V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.01 212139 chr4 56763036 56763036 A G rs769061715 EXOC1 Nonsynonymous SNV T688A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 212140 chr10 48414281 48414281 T C GDF2 Nonsynonymous SNV D196G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 212141 chr10 50036878 50036878 G T WDFY4 Nonsynonymous SNV V2093F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 212142 chr6 38850823 38850823 C G DNAH8 Nonsynonymous SNV H2449D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.123 212143 chr21 15966385 15966385 A G LOC388813 Synonymous SNV C110C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.03 212144 chr7 48068426 48068426 G C rs138855382 SUN3 Nonsynonymous SNV P37R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 212145 chr6 39040707 39040707 C T rs143390990 GLP1R Synonymous SNV S193S 0 0 0 2 0 0 0.005 0 0 0 0 0 18.74 212146 chr19 50183151 50183151 A G rs373555384 PRMT1 Nonsynonymous SNV N20S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 212147 chr3 44763000 44763083 AGAATTCACACTGGAGAGAAACCTTATAAATGCAATGAATGTGGGAATTCCTTCCGCAATCACTCACATCTCACTGAACACCAG - ZNF502 E243_N270del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 212148 chr19 50476365 50476365 C A rs79685429 SIGLEC16 Nonsynonymous SNV T476K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.057 212149 chr7 4841571 4841571 G A rs757799017 RADIL Nonsynonymous SNV A852V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.252 212150 chr10 5435481 5435481 C G TUBAL3 X407S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 212151 chr6 42074925 42074925 G A rs568578371 C6orf132 Nonsynonymous SNV P242L 0 0.003 0 4 0 1 0.01 0 0 0 0 0 0.076 212152 chr3 45637038 45637038 G A rs373048318 LIMD1 Nonsynonymous SNV G223R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 212153 chr3 45872415 45872415 C A LZTFL1 Nonsynonymous SNV G197V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 212154 chr7 5269275 5269275 G T WIPI2 Nonsynonymous SNV L327F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.049 212155 chr6 43325062 43325064 CTC - rs756114967 ZNF318 E330del 0 0 0 2 0 0 0.005 0 0 0 0 0 212156 chr3 48508499 48508499 G A TREX1 Nonsynonymous SNV G139S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 212157 chr1 161089744 161089744 T C rs779403008 NIT1 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 212158 chr3 49845469 49845469 G A rs767612477 UBA7 Nonsynonymous SNV P836L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 212159 chr3 49936564 49936564 G A rs199940178 MST1R Nonsynonymous SNV R455C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 212160 chr3 50403529 50403529 G A rs762405686 CACNA2D2 Synonymous SNV Y925Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.59 212161 chr21 43332462 43332462 A G C2CD2 Nonsynonymous SNV M156T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 212162 chr7 73480277 73480277 C T ELN Nonsynonymous SNV A598V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 212163 chr3 52745881 52745881 C T rs182485847 NEK4 Nonsynonymous SNV R724H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 212164 chr7 77256992 77256992 - AT rs780985637 PTPN12 Frameshift insertion V537Mfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 212165 chr7 77256994 77256994 - TGATGTTAGTGAAGATTCACCTCCTCCCCTACCTGAAAGAACTCCTGAATCGTTTGTGTTAGC PTPN12 0.001 0 0 0 1 0 0 0 0 0 0 0 212166 chr19 54307216 54307216 G A rs573629753 NLRP12 Nonsynonymous SNV R860W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 212167 chr4 107183270 107183270 G A TBCK Synonymous SNV I122I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 212168 chr19 54677793 54677793 C T rs79199039 MBOAT7 Nonsynonymous SNV R382Q 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Likely benign 23.4 212169 chr10 61413588 61413588 G C rs750417619 SLC16A9 Nonsynonymous SNV A312G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 212170 chr19 55098708 55098708 T C rs759420288 LILRA2 Synonymous SNV N420N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 212171 chr3 87017955 87017955 C T rs62622838 VGLL3 Nonsynonymous SNV R241H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 212172 chr21 47704612 47704612 C G rs147601190 MCM3AP Nonsynonymous SNV V197L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.624 212173 chr7 97823744 97823744 A G LMTK2 Nonsynonymous SNV S1323G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 212174 chr7 98257875 98257875 C T rs199857878 NPTX2 Synonymous SNV V410V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 212175 chr6 76617415 76617415 T C rs139395133 MYO6 Synonymous SNV N1067N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 6.894 212176 chr3 122552192 122552192 T C rs1022513032 SLC49A4 Synonymous SNV S244S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.4 212177 chr10 93773439 93773439 C T rs372689460 BTAF1 Synonymous SNV L1443L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.93 212178 chr8 100994310 100994310 A G RGS22 Nonsynonymous SNV I891T 0.004 0 0 0 5 0 0 0 0 0 0 0 24.8 212179 chr10 72462168 72462168 G A rs376783762 ADAMTS14 Nonsynonymous SNV R208H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 212180 chr4 102269575 102269575 G A rs114160642 FLJ20021 0 0 0.003 0 0 0 0 1 0 0 0 0 0.408 212181 chr7 100071904 100071904 C T rs151058099 TSC22D4 Nonsynonymous SNV D308N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 212182 chr11 1272797 1272797 G T rs56368888 MUC5B Nonsynonymous SNV S4896I 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 0.379 212183 chr11 129743787 129743787 T C rs749648754 NFRKB Synonymous SNV G826G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.079 212184 chr10 82122264 82122264 C T rs752534241 DYDC2 Nonsynonymous SNV A22V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 212185 chr22 26110530 26110530 C T rs142462384 GRK3 Synonymous SNV H436H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.7 212186 chr11 133792098 133792098 G T rs777467319 IGSF9B Synonymous SNV T767T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.527 212187 chr4 183717891 183717891 G A TENM3 Nonsynonymous SNV V2439M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 212188 chr4 186084076 186084076 G C rs939759121 CFAP97 Nonsynonymous SNV A492G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 212189 chr4 186288378 186288378 A G rs770391653 LRP2BP Synonymous SNV L334L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.187 212190 chr4 140640508 140640508 T C rs781681279 MAML3 Nonsynonymous SNV Q1129R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 212191 chr11 194442 194442 G A rs377018440 SCGB1C1, SCGB1C2 Nonsynonymous SNV G94S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 212192 chr4 146575273 146575273 G A rs377228966 MMAA Nonsynonymous SNV R316H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 212193 chr4 187540381 187540381 G A rs187778747 FAT1 Synonymous SNV H2453H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.062 212194 chr10 97366631 97366631 G A rs781126562 ALDH18A1 Nonsynonymous SNV T547I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 212195 chr4 155156399 155156399 G A rs138106573 DCHS2 Synonymous SNV I3135I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.704 212196 chr1 215848154 215848154 C T rs146156360 USH2A Nonsynonymous SNV V4367I 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 0.001 212197 chr7 100856197 100856197 C T rs377320080 PLOD3 Nonsynonymous SNV V269I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.14 212198 chr20 3209540 3209540 G A rs368894887 SLC4A11 Synonymous SNV H674H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.172 212199 chr11 100999253 100999253 T C rs201378964 PGR Synonymous SNV K183K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 4.687 212200 chr11 281306 281306 C A NLRP6 Synonymous SNV G524G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 212201 chr8 145057152 145057152 C T rs371846207 PARP10 Nonsynonymous SNV R847Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.696 212202 chr4 186112150 186112150 C T CFAP97 Synonymous SNV K67K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.981 212203 chr7 124404791 124404791 A G rs149569764 GPR37 Synonymous SNV F80F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.001 212204 chr4 187348171 187348171 G A rs539954979 F11-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.322 212205 chr5 35771856 35771856 A G SPEF2 Nonsynonymous SNV K1316R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 212206 chr4 189060997 189060997 C A TRIML1 Stop gain Y95X 0 0 0.003 0 0 0 0 1 0 0 0 0 26 212207 chr7 135291586 135291586 A G rs371693836 NUP205 Nonsynonymous SNV N640S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.074 212208 chr20 31625380 31625380 C T rs753515911 BPIFB6 Stop gain Q228X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 36 212209 chr11 48177410 48177410 A G rs150282496 PTPRJ Nonsynonymous SNV N1096S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 212210 chr4 39105016 39105016 G C rs138600627 KLHL5 Synonymous SNV L455L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 212211 chr3 195960041 195960041 C A rs745311146 SLC51A Nonsynonymous SNV P332T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.592 212212 chr3 27473127 27473127 C T rs139463553 SLC4A7 Nonsynonymous SNV R271Q 0.006 0.003 0 5 7 1 0.013 0 0 0 0 0 24.5 212213 chr20 39980775 39980775 T C rs146167352 LPIN3 Synonymous SNV H427H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 212214 chr22 50960191 50960191 C G rs138105501 NCAPH2 Nonsynonymous SNV P341R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.59 212215 chr1 247694980 247694980 G T OR2C3 Nonsynonymous SNV F278L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 212216 chr22 51008805 51008805 T A CPT1B Nonsynonymous SNV S653C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 212217 chr20 43129914 43129914 T G rs763980280 SERINC3 Synonymous SNV V361V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 212218 chrX 9683031 9683031 G A rs147799102 TBL1X Synonymous SNV A514A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 212219 chr8 37632840 37632841 TG - PLPBP V157Ffs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 212220 chr7 149506167 149506167 C T rs144284618 SSPO 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.166 212221 chr7 149509442 149509442 C T rs147581296 SSPO 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 14.67 212222 chr7 149514744 149514744 G A rs116524136 SSPO 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 7.842 212223 chr7 149524036 149524036 G A rs200187007 SSPO 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.512 212224 chr11 121016463 121016463 C T rs138768918 TECTA Nonsynonymous SNV P1248L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 212225 chr2 234239 234239 G A rs761115105 SH3YL1 Nonsynonymous SNV R109C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 212226 chr11 17600037 17600037 G T rs144060182 OTOG Nonsynonymous SNV R920L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 20.8 212227 chr20 48568654 48568654 G A RNF114 Synonymous SNV L221L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 212228 chr7 1543578 1543578 T C rs767281242 INTS1 Nonsynonymous SNV T7A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.678 212229 chr20 55967862 55967862 C T rs374374331 LOC100291105 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 212230 chrX 71363320 71363320 C T NHSL2 Nonsynonymous SNV R1192C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 212231 chr11 20065781 20065781 T G rs375159662 NAV2 Synonymous SNV P140P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.05 212232 chr11 20070349 20070349 C T rs78806867 NAV2 Synonymous SNV S412S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 10.86 212233 chr20 56803504 56803504 G T rs1032723801 ANKRD60 Nonsynonymous SNV A69D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 212234 chr11 55340203 55340203 T C OR4C16 Synonymous SNV N200N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.006 212235 chr7 17885231 17885231 T C rs200234752 SNX13 Synonymous SNV L384L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.556 212236 chr7 21882208 21882208 C T rs72657399 DNAH11 Nonsynonymous SNV R3580C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 212237 chrX 100911467 100911467 T C ARMCX2 Nonsynonymous SNV M370V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 212238 chr3 49016977 49016977 C T ARIH2 Nonsynonymous SNV R200C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 212239 chr11 55927378 55927378 C T rs776026222 OR8K5 Nonsynonymous SNV R139Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 212240 chr8 98817692 98817692 - ACATGTGCATTGCCATTGCGATTTCTCTTCTCAT LAPTM4B Frameshift insertion M82Ifs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 212241 chr11 1275507 1275507 G A rs575694536 MUC5B Nonsynonymous SNV A5135T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 212242 chr5 112177816 112177816 A G rs200151646 APC Synonymous SNV T2157T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.131 212243 chrX 118786991 118786991 G A rs186193225 SEPTIN6 Synonymous SNV I118I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 212244 chr4 99397376 99397376 G A rs376237419 TSPAN5 Synonymous SNV I235I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 212245 chr11 17552955 17552955 - G rs397515359 USH1C Frameshift insertion R80Pfs*69 0.001 0 0 0 1 0 0 0 0 0 0 0 212246 chr21 22881323 22881323 A G rs376916039 NCAM2 Synonymous SNV K601K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.8 212247 chrX 150348937 150348937 C T rs758407918 GPR50 Synonymous SNV Y294Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.773 212248 chrX 150869164 150869164 C T rs369580690 PRRG3 Nonsynonymous SNV R119W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 212249 chr7 44154494 44154494 T C rs752757140 POLD2 Nonsynonymous SNV T434A 0 0 0 2 0 0 0.005 0 0 0 0 0 27 212250 chrX 153594728 153594728 C T rs201173693 FLNA Synonymous SNV E392E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 4.33 212251 chr5 127614491 127614491 A G rs28763926 FBN2 Nonsynonymous SNV I2394T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 212252 chr21 37650537 37650537 C T rs146068554 DOP1B Synonymous SNV G1951G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 212253 chr11 26587018 26587018 C T rs35317037 MUC15 Nonsynonymous SNV D130N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 0.003 212254 chr3 9828974 9828974 C G rs200672644 TADA3 Synonymous SNV L205L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.46 212255 chr11 57576847 57576847 A G rs374424497 CTNND1 Nonsynonymous SNV I675V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 212256 chr9 123215846 123215846 C G rs769650511 CDK5RAP2 Nonsynonymous SNV W894S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 212257 chr11 3141680 3141680 G C OSBPL5 Nonsynonymous SNV P193A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 212258 chr11 33564153 33564153 G A rs367828392 KIAA1549L Nonsynonymous SNV M348I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 212259 chr4 10099479 10099479 A T rs187107828 WDR1 Synonymous SNV S138S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.016 212260 chr11 35338999 35338999 G A SLC1A2 Nonsynonymous SNV P28S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 212261 chr5 140737050 140737050 G T rs368424779 PCDHGA4 Synonymous SNV A792A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.87 212262 chr7 6542709 6542709 C T rs201998040 GRID2IP Nonsynonymous SNV G998D 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 19.75 212263 chr7 6630083 6630083 A G rs370746279 C7orf26 Nonsynonymous SNV K57E 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 212264 chr4 114278820 114278820 G A rs149963885 ANK2 Nonsynonymous SNV E3016K 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.874 212265 chr9 130570932 130570932 C T rs373230782 FPGS Synonymous SNV A280A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.56 212266 chr9 131744848 131744848 A C rs755507478 NUP188 Nonsynonymous SNV I513L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21.4 212267 chr22 17601858 17601858 - GCTGGT TMEM121B S53_R54insTS 0.001 0 0 0 1 0 0 0 0 0 0 0 212268 chr5 150443193 150443193 G A rs750219859 TNIP1 Synonymous SNV D31D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 212269 chr7 88963909 88963909 C T rs1011525886 ZNF804B Nonsynonymous SNV T538M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 212270 chr11 62416021 62416021 G A rs374081365 INTS5 Nonsynonymous SNV R511W 0 0.005 0 2 0 2 0.005 0 0 0 0 0 26.3 212271 chr22 18310513 18310513 C T rs770292352 MICAL3 Synonymous SNV A1030A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 212272 chr5 153413442 153413442 T - rs778329492 FAM114A2 Q105Kfs*29 0 0 0.003 0 0 0 0 1 0 0 0 0 212273 chr11 63398531 63398531 G A ATL3 Nonsynonymous SNV A489V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 212274 chr11 55579684 55579684 A G rs775377558 OR5L1 Nonsynonymous SNV I248V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 212275 chr4 139964350 139964350 A G rs144971378 NOCT Nonsynonymous SNV I105V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.126 212276 chr5 169533386 169533386 A G rs780706464 FOXI1 Nonsynonymous SNV K142R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.617 212277 chr5 156590649 156590649 T G rs779590523 FAM71B Nonsynonymous SNV E209D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.714 212278 chr5 170395341 170395341 G A rs185569766 RANBP17 Nonsynonymous SNV R557H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 212279 chr5 157098777 157098777 G T rs756763224 C5orf52 Nonsynonymous SNV G52V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.556 212280 chr11 55682033 55682033 A C rs778351445 OR5W2 Stop gain L9X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 212281 chr5 157162897 157162899 ACA - THG1L Q64del 0 0 0.003 0 0 0 0 1 0 0 0 0 212282 chr22 21989588 21989588 C A rs769409397 CCDC116 Nonsynonymous SNV S412R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.585 212283 chr4 146572242 146572242 T C MMAA Synonymous SNV A254A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.506 212284 chr2 102956692 102956692 T A rs143378674 IL1RL1 Nonsynonymous SNV I19N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 212285 chr5 176836045 176836045 A C F12 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 212286 chr22 26298682 26298682 C T MYO18B Synonymous SNV G1643G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 212287 chr9 139301891 139301891 A C ENTR1 Nonsynonymous SNV D102E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 212288 chr9 139393577 139393577 G A rs375920679 NOTCH1 Synonymous SNV A2023A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.639 212289 chr5 178413312 178413312 G A rs61733863 GRM6 Nonsynonymous SNV A648V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.001 212290 chr8 124085630 124085630 A G TBC1D31 Synonymous SNV E2E 0 0.003 0.003 4 0 1 0.01 1 0 0 0 0 5.056 212291 chr8 124121759 124121759 T A rs143468472 TBC1D31 Synonymous SNV T340T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 212292 chr8 124138786 124138786 A G rs369621325 TBC1D31 Synonymous SNV E81E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.718 212293 chr8 124408460 124408460 C T rs13258197 ATAD2 Synonymous SNV Q46Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.894 212294 chr9 139907507 139907507 G A rs371638838 ABCA2 Nonsynonymous SNV P1605L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.003 212295 chr11 56237552 56237552 C T rs571368907 OR5M3 Nonsynonymous SNV R141Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.59 212296 chr5 180424481 180424481 G A rs563357818 BTNL3 Synonymous SNV L222L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.701 212297 chr5 180649616 180649616 G A rs146528803 MIR4638 0 0 0.02 0 0 0 0 6 0 0 0 0 4.28 212298 chr6 13470805 13470805 - T rs758529514 GFOD1 Frameshift insertion M104Nfs*48 0.002 0.003 0 0 2 1 0 0 0 0 0 0 212299 chr8 133919002 133919002 C T rs369296999 TG Nonsynonymous SNV S1235L 0 0 0 3 0 0 0.008 0 0 0 0 0 11.78 212300 chr5 37008747 37008747 A G NIPBL Nonsynonymous SNV H1448R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 212301 chr22 38370081 38370081 G A rs147334218 SOX10 Synonymous SNV G274G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Benign/Likely benign 4.459 212302 chr5 446341 446341 G T rs772822487 EXOC3 Nonsynonymous SNV E7D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 212303 chr5 453575 453575 G A rs750780519 EXOC3 Nonsynonymous SNV R152Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 212304 chr4 2306499 2306499 G A rs151169783 ZFYVE28 Nonsynonymous SNV S493L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 212305 chr9 32418369 32418369 G A rs760657982 ACO1 Nonsynonymous SNV G173D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 212306 chr22 40662883 40662883 T C rs375875810 TNRC6B Synonymous SNV I883I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 212307 chr9 32635424 32635424 C T rs149606104 TAF1L Nonsynonymous SNV E52K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 212308 chr22 40814932 40814932 G A rs201900528 MRTFA Nonsynonymous SNV R504W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 212309 chr11 60468456 60468456 G C rs148869742 MS4A8 Synonymous SNV P41P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.335 212310 chr9 35957723 35957723 C A rs768090069 OR2S2 Nonsynonymous SNV V125L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.402 212311 chr8 144990348 144990348 G C rs782535880 PLEC Synonymous SNV A4533A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.407 212312 chr11 60695216 60695216 G A rs139246153 TMEM132A Nonsynonymous SNV R140Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.3 212313 chr11 56237233 56237233 A G rs141165490 OR5M3 Synonymous SNV I247I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.864 212314 chr8 144993246 144993246 G A rs375573910 PLEC Synonymous SNV G3567G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.011 212315 chr6 38561981 38561981 G A rs751515823 BTBD9 Nonsynonymous SNV T44I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 212316 chr2 179474027 179474027 C T rs775700218 TTN Nonsynonymous SNV R8272Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Uncertain significance 23.4 212317 chr22 44386199 44386199 A G rs150932882 SAMM50 Nonsynonymous SNV Y426C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.431 212318 chr11 8496255 8496255 G C rs145784235 STK33 Nonsynonymous SNV N66K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.677 212319 chr9 72047491 72047493 GTG - APBA1 H801del 0.001 0 0 0 1 0 0 0 0 0 0 0 212320 chr22 50217707 50217707 A C BRD1 Nonsynonymous SNV L87V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 212321 chr8 145537837 145537837 C T rs376075311 HSF1 Synonymous SNV P478P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.2 212322 chr11 57098389 57098389 C T SSRP1 Synonymous SNV G412G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 212323 chr5 7757684 7757715 GGCCGTGTTCAACATGGTAAGTCCCAGAGCAC - rs763762644 ADCY2 M693Ifs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 212324 chr11 57480067 57480067 G A rs369800402 TMX2-CTNND1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.741 212325 chr11 62393883 62393883 G A rs114915323 GANAB Nonsynonymous SNV H736Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.8 212326 chr11 62414052 62414052 A C rs780758909 GANAB Nonsynonymous SNV V7G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 212327 chr5 79465311 79465311 T C rs759732415 SERINC5 Nonsynonymous SNV I204V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 212328 chr11 62474608 62474608 G C rs115116507 BSCL2 Nonsynonymous SNV D20E 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 0.033 212329 chr11 62500672 62500672 G T rs569538675 TTC9C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.643 212330 chr11 62519964 62519964 C T rs78223143 ZBTB3 Synonymous SNV L391L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 10.08 212331 chr11 62520189 62520189 A G rs80108110 ZBTB3 Synonymous SNV T316T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.015 212332 chr6 44364163 44364163 A G rs370065367 CDC5L Synonymous SNV Q175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.679 212333 chr5 80476083 80476083 G A rs767948359 RASGRF2 Nonsynonymous SNV V926I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 212334 chr9 85597665 85597665 C T rs150221272 RASEF Nonsynonymous SNV S717N 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 212335 chr2 196749415 196749415 C T rs13034775 DNAH7 Nonsynonymous SNV R1886Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.06 212336 chr9 91606028 91606029 GT - C9orf47 V40Sfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 212337 chr8 18730036 18730036 T A rs201964200 PSD3 Nonsynonymous SNV D80V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 21.3 212338 chr9 95237024 95237027 CTCA CTCCTCATCATCATCA ASPN Synonymous SNV E51E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 212339 chrX 15582322 15582322 T A ACE2 Nonsynonymous SNV N712Y 0.002 0 0 0 2 0 0 0 1 0 0 0 25.6 212340 chr9 98222011 98222011 A G PTCH1 Nonsynonymous SNV Y868H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.2 212341 chr11 607687 607687 A G rs202005033 PHRF1 Nonsynonymous SNV H744R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 212342 chrX 100746671 100746671 T C rs189010224 ARMCX4 Nonsynonymous SNV I1032T 0.003 0 0.01 0 4 0 0 3 1 0 1 0 0.004 212343 chr12 104379508 104379508 - GGAGTTA TDG 0 0.003 0 0 0 1 0 0 0 0 0 0 212344 chrX 47918160 47918160 A G rs61736415 ZNF630 Synonymous SNV H557H 0.003 0 0 2 4 0 0.005 0 1 0 0 1 0.312 212345 chr8 22873213 22873213 C A rs370278896 RHOBTB2 Nonsynonymous SNV N648K 0 0 0 3 0 0 0.008 0 0 0 0 0 15.37 212346 chr6 109415216 109415216 T C rs764435499 SESN1 Nonsynonymous SNV R21G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 212347 chr6 109764544 109764544 C T rs374522884 SMPD2 Synonymous SNV P268P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.55 212348 chr6 110759941 110759941 G A rs965604279 SLC22A16 Synonymous SNV V431V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.684 212349 chrX 55052395 55052395 C T rs1015624488 ALAS2 Synonymous SNV V13V 0.002 0 0 0 2 0 0 0 1 0 0 0 12.95 212350 chrX 114250240 114250240 G T IL13RA2 Nonsynonymous SNV T80K 0.003 0 0 0 3 0 0 0 1 0 0 0 0.001 212351 chr11 62475782 62475782 C G rs572417715 GNG3 Synonymous SNV T5T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.379 212352 chr1 67313208 67313208 T A rs776215798 WDR78 Nonsynonymous SNV Q417L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.6 212353 chr1 67721565 67721565 A G IL23R Synonymous SNV E398E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.839 212354 chr11 66103575 66103575 G A rs765721476 RIN1 Synonymous SNV G19G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.38 212355 chr11 63961960 63961960 T G rs772728364 STIP1 Nonsynonymous SNV F171C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 212356 chr4 81967500 81967500 T C rs541364851 BMP3 Nonsynonymous SNV Y309H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 212357 chr8 37729777 37729777 G A rs139234262 RAB11FIP1 Nonsynonymous SNV A848V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.003 212358 chr6 129785465 129785465 T G LAMA2 Nonsynonymous SNV I2341M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 212359 chr8 38006217 38006217 C T rs138786388 STAR Synonymous SNV L40L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.71 212360 chr6 130762083 130762083 G T rs143602233 TMEM200A Synonymous SNV T172T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.174 212361 chr11 64883005 64883005 G C TM7SF2 Nonsynonymous SNV G317A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 212362 chr6 99998140 99998140 A G rs970158250 CCNC Nonsynonymous SNV Y77H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 212363 chr11 65386152 65386152 G A rs778665506 PCNX3 Nonsynonymous SNV R440H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 212364 chrX 149631097 149631097 A G rs16996606 MAMLD1 Synonymous SNV P52P 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 1.215 212365 chrX 152482838 152482838 G A rs782761428 MAGEA1 Nonsynonymous SNV P58L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 212366 chr6 142764568 142764568 C T rs761948370 ADGRG6 Synonymous SNV V1195V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 212367 chr4 8869574 8869574 G A HMX1 Nonsynonymous SNV P298S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.77 212368 chr8 62578029 62578029 T C ASPH Synonymous SNV L138L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.405 212369 chr8 6303028 6303028 T C rs146744659 MCPH1 Synonymous SNV S547S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.381 212370 chrX 153217121 153217121 C T rs377035512 HCFC1 Synonymous SNV P1766P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 19.06 212371 chr11 70013405 70013405 C T rs200463172 ANO1 Synonymous SNV H703H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 9.532 212372 chrX 153594495 153594495 G A rs886039209 FLNA Synonymous SNV Y442Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.184 212373 chrY 2734917 2734917 C G rs753783573 RPS4Y1 Synonymous SNV T258T 0.002 0 0 0 2 0 0 0 1 0 0 0 9.247 212374 chrY 14971255 14971255 A C rs58915173 USP9Y Nonsynonymous SNV N2528H 0.002 0 0 0 2 0 0 0 1 0 0 0 24.9 212375 chr6 151672777 151672777 C T rs757288317 AKAP12 Nonsynonymous SNV S979L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.741 212376 chr1 101005056 101005056 C T rs79809868 GPR88 Synonymous SNV P178P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.443 212377 chr11 66812135 66812135 C T rs765400549 SYT12 Synonymous SNV V188V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 212378 chr1 1389856 1389856 T G rs1781146 ATAD3C Synonymous SNV L118L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.471 212379 chrX 36064983 36064983 A G rs780485225 CFAP47 Synonymous SNV L1340L 0.003 0 0 0 3 0 0 0 1 0 0 0 5.229 212380 chr8 86240792 86240792 A G rs367751099 CA1 Synonymous SNV F148F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.913 212381 chr8 8748668 8748668 T A MFHAS1 Nonsynonymous SNV H634L 0 0 0 3 0 0 0.008 0 0 0 0 0 5.617 212382 chr1 1902118 1902118 C T rs969978962 CFAP74 Synonymous SNV Q342Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 212383 chr1 2321392 2321392 T C rs370263830 MORN1 Synonymous SNV E40E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 212384 chr12 129028566 129028566 G A rs373744713 TMEM132C Nonsynonymous SNV V347I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.94 212385 chrX 48826076 48826076 G A rs184160237 KCND1 Synonymous SNV I201I 0.003 0 0 0 3 0 0 0 1 0 0 0 9.258 212386 chr12 132502784 132502784 C T rs754989535 EP400 Synonymous SNV I1380I 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 17.23 212387 chr6 161582253 161582253 G A rs531972903 AGPAT4-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.863 212388 chr9 100975393 100975393 C T rs536328499 TBC1D2 Synonymous SNV T34T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.08 212389 chr6 146351154 146351154 A C rs180711288 GRM1 Synonymous SNV V167V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.244 212390 chr6 167411388 167411388 C G rs73024234 MIR3939 0 0 0.034 0 0 0 0 10 0 0 0 0 6.036 212391 chr6 167717440 167717440 C T rs34838751 UNC93A Nonsynonymous SNV A178V 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 0.812 212392 chrX 76953084 76953084 A G ATRX Nonsynonymous SNV S77P 0.003 0 0 0 3 0 0 0 1 0 0 0 26.7 212393 chr5 131396676 131396676 A G rs35482671 IL3 Nonsynonymous SNV N60S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 3.341 212394 chr11 74421994 74421994 C T CHRDL2 Nonsynonymous SNV C46Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 212395 chr1 10384889 10384889 G A rs763122049 KIF1B Nonsynonymous SNV E825K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 212396 chr5 131722824 131722824 C A rs770408585 SLC22A5 Nonsynonymous SNV T311N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.09 212397 chr1 10719929 10719929 C T rs530829402 CASZ1 Synonymous SNV P390P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.627 212398 chr5 132585219 132585219 T C rs765587007 FSTL4 Synonymous SNV T259T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.995 212399 chr1 11017701 11017701 G A rs766815981 C1orf127 Nonsynonymous SNV P83L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.32 212400 chr5 134223657 134223657 G A rs149625993 TXNDC15 Nonsynonymous SNV V58I 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.022 212401 chr11 7618804 7618804 C G rs1002859376 PPFIBP2 Nonsynonymous SNV T17R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 212402 chr1 120468128 120468128 G A rs34561092 NOTCH2 Synonymous SNV G1437G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.79 212403 chr6 17987649 17987649 T G KIF13A Nonsynonymous SNV N16H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 212404 chr6 17987652 17987652 T G rs774830525 KIF13A Nonsynonymous SNV M15L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 212405 chr10 100146966 100146966 G A rs146264210 PYROXD2 Nonsynonymous SNV P516S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 212406 chr11 7720315 7720315 G A rs759301822 OVCH2 Nonsynonymous SNV R303W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 212407 chr1 12835898 12835898 A G rs368437342 PRAMEF12 Nonsynonymous SNV E167G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.8 212408 chr6 159618526 159618526 C T rs554282439 FNDC1 Nonsynonymous SNV T58M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 212409 chr6 26413840 26413840 G A rs144592497 BTN3A1 Nonsynonymous SNV V436I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 212410 chr9 114468985 114468985 G T SHOC1 Nonsynonymous SNV A764E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 212411 chr10 104486493 104486493 C T rs201068739 SFXN2 Nonsynonymous SNV R34C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 212412 chr6 28116402 28116402 C T rs756145802 ZKSCAN8 Nonsynonymous SNV R73W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 212413 chr1 16258633 16258633 C T rs144604448 SPEN Synonymous SNV N1966N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.64 212414 chr6 3290036 3290036 C G rs142530404 SLC22A23 Synonymous SNV R144R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 212415 chr6 33553460 33553460 C T rs142844078 GGNBP1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 212416 chr6 35263009 35263009 C T rs73745177 ZNF76 Nonsynonymous SNV S511L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25 212417 chr6 35424008 35424010 GGA - rs45451605 FANCE G246del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 212418 chr11 93826762 93826762 A G HEPHL1 Nonsynonymous SNV E797G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 212419 chr10 115336973 115336973 C T rs111397043 HABP2 Synonymous SNV P106P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 9.827 212420 chr6 36343802 36343802 G A rs2234074 ETV7 Synonymous SNV P51P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.49 212421 chr6 168440826 168440826 C G rs6928620 KIF25 Nonsynonymous SNV H192Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 22.3 212422 chr12 47630075 47630075 C T rs770009860 PCED1B Nonsynonymous SNV T410M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.046 212423 chr11 9879863 9879863 C T rs779328934 SBF2 Synonymous SNV E670E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 212424 chr1 156354348 156354348 - C RHBG 0.001 0 0 0 1 0 0 0 0 0 0 0 212425 chr3 23963102 23963105 CTCA - rs113086273 RPL15 H126Qfs*66 0.002 0 0 0 2 0 0 0 1 0 0 0 212426 chr12 101736358 101736358 G T rs776020957 UTP20 Synonymous SNV T1412T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.871 212427 chr9 125424062 125424062 A G rs748437255 OR1L1 Nonsynonymous SNV D23G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.49 212428 chr12 104332139 104332139 A G rs144242572 HSP90B1 Nonsynonymous SNV M293V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 212429 chr12 49431413 49431413 G A rs183688784 KMT2D Synonymous SNV A3242A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 Benign/Likely benign 7.47 212430 chr5 150512671 150512671 C T rs766575126 ANXA6 Synonymous SNV K176K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.09 212431 chr5 150518314 150518314 C G ANXA6 Nonsynonymous SNV K49N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.27 212432 chr6 44272187 44272187 T C rs745794580 AARS2 Synonymous SNV L612L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 212433 chr1 26663357 26663357 G A rs201524654 CRYBG2 Stop gain Q1296X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 39 212434 chr6 46793192 46793192 C T rs143801305 MEP1A Nonsynonymous SNV A247V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.737 212435 chr12 110346434 110346434 G A rs143297503 TCHP Nonsynonymous SNV R248Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.116 212436 chr7 12376859 12376859 A C VWDE Nonsynonymous SNV M1354R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 212437 chr12 111089181 111089181 G A rs749906449 HVCN1 Nonsynonymous SNV R142C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 212438 chr5 156533942 156533942 G A rs555868248 HAVCR2 Synonymous SNV V30V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.927 212439 chr1 31791055 31791055 T C ZCCHC17 Nonsynonymous SNV I5T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.426 212440 chr1 33099564 33099564 C T rs146265623 ZBTB8OS Nonsynonymous SNV V83I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.1 212441 chr12 113400594 113400594 G A rs777617175 OAS3 Synonymous SNV T657T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.061 212442 chr6 6305753 6305753 G A rs148898698 F13A1 Synonymous SNV S50S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.836 212443 chr12 113645357 113645357 C T rs147100708 IQCD Synonymous SNV A205A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.08 212444 chr12 113737752 113737752 C T rs150843854 SLC8B1 Nonsynonymous SNV V473I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.62 212445 chr6 71665738 71665738 C A B3GAT2 Nonsynonymous SNV R132L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 212446 chr1 37499626 37499626 G T rs200805108 GRIK3 Nonsynonymous SNV D28E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.38 212447 chr1 39750019 39750019 A G rs140603202 MACF1 Synonymous SNV Q355Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.854 212448 chr10 27350084 27350084 A G rs201461870 ANKRD26 Nonsynonymous SNV V484A 0.006 0 0 3 7 0 0.008 0 0 0 0 1 Benign/Likely benign 23.7 212449 chr9 136578188 136578188 G T SARDH Nonsynonymous SNV F403L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 212450 chr5 176731064 176731064 C T rs568912315 PRELID1 Synonymous SNV Y26Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 212451 chr1 41978935 41978935 G A rs138998440 HIVEP3 Nonsynonymous SNV S1986L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 212452 chr12 57573590 57573590 T C rs757963763 LRP1 Synonymous SNV A1664A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.29 212453 chr12 132547094 132547111 CAGCAGCAGCAGCAGCAG - EP400 Q2743_Q2748del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 212454 chr12 57577606 57577606 G A LRP1 Nonsynonymous SNV R1948Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 212455 chr12 132547111 132547111 - CAG EP400 Q2748_T2749insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 212456 chr1 42620506 42620506 G A rs769284922 GUCA2B Synonymous SNV S82S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.465 212457 chr6 90357756 90357756 C A rs116360466 MDN1 Nonsynonymous SNV A5464S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 212458 chr12 133148904 133148904 C G FBRSL1 Nonsynonymous SNV P488A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.81 212459 chr12 57872953 57872953 T C rs779537016 ARHGAP9 Synonymous SNV P79P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.402 212460 chr6 90578661 90578661 C A rs574765582 CASP8AP2 Synonymous SNV A1884A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.408 212461 chr7 43351489 43351489 A T HECW1 Nonsynonymous SNV D52V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 212462 chr1 43782906 43782906 T C rs36125168 TIE1 Synonymous SNV L771L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.335 212463 chr12 58350664 58350664 A G rs377625667 ATP23 Synonymous SNV S126S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.295 212464 chr7 100000159 100000159 G A rs368778865 ZCWPW1 Nonsynonymous SNV T484I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 212465 chr12 133779256 133779256 A G ZNF268 Synonymous SNV G328G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.21 212466 chr5 33576443 33576443 C T rs375250179 ADAMTS12 Nonsynonymous SNV E1145K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.035 212467 chr12 130855827 130855827 C T PIWIL1 Nonsynonymous SNV R810C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 212468 chr12 6925166 6925166 C T rs182784943 CD4 Synonymous SNV L5L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.371 212469 chr12 133238214 133238214 G A rs767254003 POLE Synonymous SNV Y921Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.22 212470 chr9 14859246 14859246 A G rs759083546 FREM1 Nonsynonymous SNV V189A 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 212471 chr9 20926326 20926326 A G rs370035774 FOCAD Synonymous SNV K996K 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.469 212472 chr7 82583098 82583098 G A rs186877233 PCLO Nonsynonymous SNV R2391C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 212473 chr7 100732043 100732043 G A TRIM56 Nonsynonymous SNV G484S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 212474 chr7 88423597 88423597 G A rs147171457 TEX47 Synonymous SNV S220S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 2.521 212475 chr7 102940675 102940675 G A rs200124606 PMPCB Nonsynonymous SNV M126I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 212476 chr7 102982258 102982258 A T rs116050414 DNAJC2 Nonsynonymous SNV L70M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 212477 chr7 103141279 103141279 G A rs778305016 RELN Synonymous SNV C2860C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 212478 chr7 103185751 103185751 C T rs116716038 RELN Nonsynonymous SNV G2115S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.3 212479 chr10 72289681 72289681 A G PALD1 Nonsynonymous SNV M109V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.155 212480 chr12 49392447 49392447 C T DDN Nonsynonymous SNV C71Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 212481 chr7 99258157 99258157 G A rs760949027 CYP3A5 Synonymous SNV L331L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.513 212482 chr1 86374293 86374293 T C rs373179301 COL24A1 Synonymous SNV P204P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.194 212483 chr12 50047081 50047081 A G rs199786905 FMNL3 Synonymous SNV N366N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.294 212484 chr10 75265050 75265050 C T PPP3CB-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 212485 chr9 71845105 71845105 C T rs749639839 TJP2 Nonsynonymous SNV S547L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 212486 chr7 12409456 12409456 A G rs75583079 VWDE Nonsynonymous SNV F711L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.925 212487 chr7 12620790 12620790 C G rs116532633 SCIN Nonsynonymous SNV P154A 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 212488 chr12 51347786 51347786 C T rs61731820 HIGD1C Nonsynonymous SNV S2F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28 212489 chr7 128481563 128481563 C T rs772223832 FLNC Nonsynonymous SNV A688V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.5 212490 chr9 80881357 80881357 G C rs146563928 CEP78 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 212491 chr7 128851930 128851930 C T rs779777438 SMO Nonsynonymous SNV R668C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 212492 chr9 90318132 90318132 - GTGAGCCCCT rs757742653 DAPK1 Frameshift insertion I1021Vfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 212493 chr7 130008396 130008396 G A rs782359005 CPA5 Nonsynonymous SNV R395H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.357 212494 chr7 130027748 130027748 C T rs201750163 CPA1 Nonsynonymous SNV R386C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.9 212495 chr7 132409630 132409630 C T rs567819123 FLJ40288 0 0 0.003 0 0 0 0 1 0 0 0 0 9.207 212496 chr1 95322949 95322949 G A rs35405772 SLC44A3 Synonymous SNV R341R 0 0.005 0 0 0 2 0 0 0 0 0 0 9.81 212497 chr3 128614238 128614238 G A rs140225132 ACAD9 Synonymous SNV A144A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 14.98 212498 chr10 91144173 91144173 G A rs149656549 IFIT1B Nonsynonymous SNV R368H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.253 212499 chr3 128722883 128722883 T C rs746914654 EFCC1 Nonsynonymous SNV W315R 0.003 0 0 0 3 0 0 0 0 0 0 0 18.18 212500 chr3 129252483 129252483 C T rs142771862 RHO Synonymous SNV C323C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 15.9 212501 chr7 142627256 142627256 C T rs766993567 TRPV5 Synonymous SNV A82A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 212502 chrX 111698810 111698810 A C rs370050347 RTL4 Nonsynonymous SNV Q285P 0 0.003 0 3 0 1 0.008 0 0 0 0 1 14.51 212503 chr7 143771476 143771476 A C OR2A25 Nonsynonymous SNV H55P 0 0 0.003 0 0 0 0 1 0 0 0 0 22 212504 chr7 149473580 149473580 A G rs202034436 SSPO 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.471 212505 chr7 149489540 149489540 G A rs199795943 SSPO 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.558 212506 chr10 98170148 98170148 C T rs374588772 TLL2 Nonsynonymous SNV V378I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.2 212507 chr12 54757423 54757423 C T rs573358974 GPR84 Synonymous SNV T71T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.281 212508 chr5 9629879 9629879 T C rs200282241 TAS2R1 Nonsynonymous SNV N89S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.679 212509 chr13 33638206 33638206 T - KL H977Tfs*10 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 212510 chr3 142402975 142402975 T C rs148154571 PLS1 Nonsynonymous SNV V236A 0.004 0 0 2 5 0 0.005 0 0 0 0 0 23.4 212511 chr1 114524038 114524038 C T rs141551539 OLFML3 Nonsynonymous SNV R229W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 212512 chr12 56088083 56088083 C A rs933056380 ITGA7 Nonsynonymous SNV A349S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 212513 chr12 56115233 56115233 G A rs1136125 RDH5 Nonsynonymous SNV V89I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.318 212514 chr1 119683295 119683295 G A rs763811903 WARS2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.924 212515 chr7 107735747 107735747 A T LAMB4 Nonsynonymous SNV L466M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.4 212516 chr7 158443610 158443610 G A rs200860676 NCAPG2 Nonsynonymous SNV R997W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 212517 chr1 145558842 145558842 G A rs782367170 ANKRD35 Nonsynonymous SNV R64H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 212518 chrX 17750063 17750063 A G rs145346113 NHS Nonsynonymous SNV S1281G 0.001 0.003 0 5 1 1 0.013 0 0 0 0 2 0.155 212519 chr7 16815954 16815954 T C rs745839113 TSPAN13 Nonsynonymous SNV L61S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 212520 chr12 67197852 67197852 G A rs888072890 GRIP1 Synonymous SNV Y38Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.317 212521 chr7 27203373 27203373 T G rs35991882 HOXA9 Nonsynonymous SNV K223T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.5 212522 chr7 27835758 27835758 A G rs61739691 TAX1BP1 Nonsynonymous SNV T363A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.904 212523 chr7 27856065 27856065 G A TAX1BP1 Nonsynonymous SNV G621D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 212524 chr6 129601267 129601267 G A rs150361703 LAMA2 Nonsynonymous SNV G838R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 32 212525 chr12 81064156 81064156 T C rs773066654 PTPRQ Nonsynonymous SNV F1991L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 212526 chr10 103988226 103988226 G A rs150163535 ELOVL3 Nonsynonymous SNV G96R 0 0 0 2 0 0 0.005 0 0 0 0 0 1.422 212527 chr10 104210421 104210421 C T rs577405185 C10orf95 Nonsynonymous SNV E144K 0 0 0 2 0 0 0.005 0 0 0 0 0 17.74 212528 chr1 160062977 160062977 G A rs199760815 IGSF8 Nonsynonymous SNV A350V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 212529 chr7 5428720 5428720 C A TNRC18 Synonymous SNV A245A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 212530 chr14 21821923 21821923 A T rs765228041 SUPT16H Nonsynonymous SNV D953E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 212531 chr10 116060309 116060309 C T rs146069194 AFAP1L2 Synonymous SNV T561T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.377 212532 chr10 116092985 116092985 C T AFAP1L2 Nonsynonymous SNV G72D 0 0 0 2 0 0 0.005 0 0 0 0 0 9.814 212533 chr6 158923451 158923451 C T rs141158549 TULP4 Nonsynonymous SNV P919L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 212534 chr1 170135847 170135847 C A METTL11B Nonsynonymous SNV P179T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 212535 chr10 118969626 118969626 T C rs368800855 KCNK18 Nonsynonymous SNV I324T 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 212536 chr13 108861227 108861227 G A rs373272193 LIG4 Nonsynonymous SNV A797V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 212537 chr1 172357785 172357785 C T rs372714532 DNM3 Synonymous SNV G782G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.43 212538 chr13 108881865 108881865 A G ABHD13 Nonsynonymous SNV N100S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.19 212539 chr12 98921754 98921754 C T rs375619307 TMPO Nonsynonymous SNV L124F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 212540 chr10 125805512 125805512 G A rs145631200 CHST15 Nonsynonymous SNV R73C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.61 212541 chr10 126312030 126312030 G A rs150965015 FAM53B Synonymous SNV P350P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 212542 chr13 113833277 113833277 C T PCID2 Synonymous SNV V371V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 212543 chr7 98588209 98588209 G A rs557915803 TRRAP Synonymous SNV S3216S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 212544 chr7 99686670 99686670 G T rs975663347 COPS6 Synonymous SNV G19G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 212545 chr8 10465337 10465337 C T RP1L1 Nonsynonymous SNV E2091K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 212546 chr11 1260783 1260783 G C MUC5B Synonymous SNV L1190L 0.003 0.01 0 0 3 4 0 0 0 0 0 0 8.27 212547 chr13 25417907 25417907 A G rs144538180 RNF17 Nonsynonymous SNV K877E 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.27 212548 chr14 50910475 50910475 T C rs756024576 MAP4K5 Nonsynonymous SNV N484S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.3 212549 chr2 44003983 44003983 G A rs146438889 DYNC2LI1 Nonsynonymous SNV G24D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.46 212550 chr13 25479562 25479562 A G CENPJ Nonsynonymous SNV S872P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 212551 chr10 134722747 134722747 C T CFAP46 Nonsynonymous SNV G884D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.929 212552 chr1 193074486 193074486 C T rs527549646 GLRX2 Synonymous SNV A9A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 212553 chr8 10756017 10756017 C T rs750390583 XKR6 Synonymous SNV T457T 0 0 0.01 0 0 0 0 3 0 0 0 0 12.48 212554 chr8 17228571 17228571 G C rs151245844 MTMR7 Nonsynonymous SNV I95M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 212555 chr8 17797299 17797299 C T rs758597953 PCM1 Nonsynonymous SNV R238C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 212556 chr13 114618968 114618968 A G rs1000056212 LINC00452 0.001 0 0 0 1 0 0 0 0 0 0 0 5.105 212557 chr1 201046246 201046246 C A rs143999390 CACNA1S Synonymous SNV T543T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 16.6 212558 chr10 15590531 15590531 C T rs77037561 ITGA8 Nonsynonymous SNV A920T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 13.83 212559 chr8 120977494 120977494 C G DEPTOR Nonsynonymous SNV L49V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 212560 chr14 62162435 62162435 C G rs11549466 HIF1A-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.7 212561 chr13 41885696 41885696 G A rs373882635 NAA16 Nonsynonymous SNV S11N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.42 212562 chr6 3083369 3083369 T C rs756550169 RIPK1 Synonymous SNV N124N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.051 212563 chr8 23560511 23560511 C G rs61743032 NKX2-6 Nonsynonymous SNV R120P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 20.8 212564 chr13 29287313 29287313 G C rs774801971 SLC46A3 Synonymous SNV G188G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.163 212565 chr10 24802291 24802291 G C KIAA1217 Nonsynonymous SNV R385P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 31 212566 chr1 204106370 204106370 A G rs201036824 ETNK2 Synonymous SNV N114N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.969 212567 chr1 204130534 204130534 A G rs752956824 REN Nonsynonymous SNV Y87H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 212568 chr14 67390952 67390952 C G GPHN Nonsynonymous SNV H257Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.58 212569 chr1 204226668 204226668 C T rs190536669 PLEKHA6 Nonsynonymous SNV R446H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 212570 chr2 73184141 73184141 G A rs754354749 SFXN5 Nonsynonymous SNV A346V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.227 212571 chr1 204438917 204438917 T C PIK3C2B Nonsynonymous SNV Q5R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.709 212572 chr14 69792077 69792077 A C rs758741153 GALNT16 Nonsynonymous SNV N153T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 212573 chr2 74884748 74884748 A G rs375005662 SEMA4F Synonymous SNV K118K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.235 212574 chr6 33647904 33647904 C G rs200180514 ITPR3 Nonsynonymous SNV I1406M 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 25.4 212575 chr1 206225119 206225119 T C rs781896121 AVPR1B Nonsynonymous SNV C227R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 212576 chr2 85858064 85858064 A G rs143539117 USP39 Nonsynonymous SNV K212R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.2 212577 chr14 75514635 75514635 T C rs141572255 MLH3 Nonsynonymous SNV H575R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.025 212578 chr1 209795977 209795977 G T rs11555728 LAMB3 Nonsynonymous SNV R869S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.4 212579 chr13 45556291 45556291 - A rs759656137 NUFIP1 0.001 0 0 0 1 0 0 0 0 0 0 0 212580 chr2 97519315 97519315 G A rs570413216 ANKRD39 Synonymous SNV Y77Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.538 212581 chr8 144695086 144695086 C T rs191305742 TSTA3 Synonymous SNV R326R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 212582 chr8 144900039 144900039 G A PUF60 Synonymous SNV G224G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.517 212583 chr10 48413956 48413956 C T rs201627211 GDF2 Synonymous SNV T304T 0 0 0 2 0 0 0.005 0 0 0 0 0 1.671 212584 chr6 41117586 41117586 T G rs34254490 TREML1 Nonsynonymous SNV H120P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.828 212585 chr14 90770316 90770316 C T rs138706639 NRDE2 Nonsynonymous SNV R323Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.49 212586 chr8 71593497 71593497 G C rs200842167 XKR9 Nonsynonymous SNV K68N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 212587 chr14 91700525 91700525 G A rs117875989 GPR68 Synonymous SNV S290S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.563 212588 chr8 144999421 144999421 C T rs371895113 PLEC Nonsynonymous SNV R1545Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.89 212589 chr10 50819425 50819425 A C rs774321192 SLC18A3 Synonymous SNV A213A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.027 212590 chr8 92983057 92983057 C T RUNX1T1 Synonymous SNV V419V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 212591 chr10 55569137 55569137 T A rs1056117713 PCDH15 Nonsynonymous SNV D1556V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.73 212592 chr10 55569138 55569138 C A rs894428647 PCDH15 Nonsynonymous SNV D1556Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 212593 chr8 98817669 98817669 A C rs537353515 LAPTM4B Nonsynonymous SNV D63A 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 212594 chr11 47237986 47237986 A C DDB2 Nonsynonymous SNV H76P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.17 212595 chr8 19276254 19276254 C T CSGALNACT1 Synonymous SNV K380K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 212596 chr8 21769747 21769747 G A rs73541515 DOK2 Nonsynonymous SNV A113V 0 0 0.01 0 0 0 0 3 0 0 0 0 26.7 212597 chr1 229635543 229635543 G C NUP133 Nonsynonymous SNV T179S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.41 212598 chr8 22102519 22102519 G A rs200301891 MIR320A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 212599 chr1 233296104 233296104 G A rs768375165 PCNX2 Nonsynonymous SNV R1148C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 212600 chr6 56462792 56462792 T G rs149342331 DST Nonsynonymous SNV K1358Q 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Uncertain significance 21 212601 chr1 240070865 240070865 C A rs199815930 CHRM3 Synonymous SNV G38G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.115 212602 chr8 30585242 30585242 C T rs1024631652 GSR Synonymous SNV T37T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 212603 chr10 81929026 81929026 G A rs750354161 ANXA11 Nonsynonymous SNV P87L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 212604 chr8 36694373 36694373 T C rs769126771 KCNU1 Synonymous SNV A476A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.213 212605 chr14 31091552 31091552 C T rs367677201 SCFD1 Nonsynonymous SNV A3V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.46 212606 chr8 38091945 38091945 A C DDHD2 Nonsynonymous SNV D85A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 212607 chr4 146823401 146823412 GGTGGAGGTGGC - rs776720600 ZNF827 P340_P343del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 212608 chr8 143436006 143436006 T C rs117184426 TSNARE1 Nonsynonymous SNV Q27R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 25.8 212609 chr6 80406268 80406268 C T rs375447286 SH3BGRL2 Nonsynonymous SNV R100W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 212610 chr14 23103498 23103498 G A rs183420584 OR6J1 Synonymous SNV T73T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.861 212611 chr14 23518278 23518278 C T rs771389147 CDH24 Nonsynonymous SNV G602S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 212612 chr1 248028031 248028031 C T rs368652011 TRIM58 Nonsynonymous SNV R181C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 212613 chr8 57294523 57294523 C T rs373130382 SDR16C6P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.493 212614 chr15 45393418 45393418 C T rs146664125 DUOX2 Nonsynonymous SNV R969Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 22.3 212615 chr10 98741829 98741829 G A rs769451061 LCOR Nonsynonymous SNV A538T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 212616 chr4 164393912 164393913 AT - rs748793858 TKTL2 Y325Wfs*6 0.003 0.003 0 0 4 1 0 0 0 0 0 0 212617 chr14 24617898 24617898 G A rs534822345 RNF31 Synonymous SNV K30K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.728 212618 chr14 24709980 24709980 G A rs199422321 TINF2 Nonsynonymous SNV P201S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.011 212619 chr2 179330612 179330612 C T rs201547667 FKBP7 Nonsynonymous SNV R184H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 212620 chr8 144991669 144991669 C T rs200585446 PLEC Nonsynonymous SNV R4093H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 212621 chr14 30066780 30066780 T C PRKD1 Nonsynonymous SNV N784S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 212622 chr2 179490092 179490092 G A rs778014249 TTN Nonsynonymous SNV T5754I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.4 212623 chr8 95677197 95677197 C T rs368959736 ESRP1 Synonymous SNV N266N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.77 212624 chr8 145738839 145738839 C A rs200002105 RECQL4 Nonsynonymous SNV E742D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.526 212625 chr8 145741460 145741460 T C rs201763704 RECQL4 Nonsynonymous SNV H348R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 212626 chr9 107560754 107560754 A C ABCA1 Nonsynonymous SNV I1690S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 212627 chr9 107593374 107593374 T A ABCA1 Nonsynonymous SNV D575V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 212628 chr14 59830401 59830401 G A rs143456339 DAAM1 Synonymous SNV Q909Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.294 212629 chr14 76045601 76045601 A G rs199805789 FLVCR2 Nonsynonymous SNV M96V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.68 212630 chr2 201438481 201438481 T A SGO2 Nonsynonymous SNV S1138T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.43 212631 chr9 14851396 14851396 A G rs773920119 FREM1 Synonymous SNV T355T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.573 212632 chr2 28081439 28081439 C G rs140948699 RBKS 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 26.7 212633 chr2 29092717 29092719 AAG - rs780815093 TRMT61B S142del 0 0.005 0 0 0 2 0 0 0 1 0 0 212634 chr2 29117778 29117778 C T WDR43 Synonymous SNV L72L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.42 212635 chr2 36583663 36583663 C T rs142265288 CRIM1 Synonymous SNV G76G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.59 212636 chr9 123850642 123850642 C A rs147018954 CNTRL Nonsynonymous SNV A13E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 21.7 212637 chr2 42994735 42994735 G A rs534302281 HAAO Nonsynonymous SNV S261L 0.003 0.003 0 4 3 1 0.01 0 0 0 0 0 16.44 212638 chr2 211019184 211019184 C T rs779731992 KANSL1L Synonymous SNV K41K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.82 212639 chr14 74976005 74976005 G A rs200770246 LTBP2 Synonymous SNV G1113G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.26 212640 chr2 47221525 47221525 G C rs113997845 TTC7A Synonymous SNV L291L 0.002 0.005 0.014 7 2 2 0.018 4 0 0 0 0 Benign 9.651 212641 chr7 123109354 123109354 G T IQUB Nonsynonymous SNV Q499K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.513 212642 chr2 54570940 54570940 C A rs774139675 C2orf73 Nonsynonymous SNV F106L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 212643 chr2 60695923 60695923 T A BCL11A Nonsynonymous SNV H144L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.64 212644 chr2 220104912 220104912 C T GLB1L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 212645 chr11 118769267 118769267 G A rs775555001 BCL9L Nonsynonymous SNV L1453F 0 0 0 2 0 0 0.005 0 0 0 0 0 22.2 212646 chr2 69046286 69046286 G A rs899799149 ARHGAP25 Nonsynonymous SNV M338I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 212647 chr7 134819765 134819765 A G rs758476920 AGBL3 Nonsynonymous SNV N280D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.24 212648 chr9 89560736 89560736 C G rs1023906043 GAS1 Nonsynonymous SNV G320A 0.004 0 0 0 5 0 0 0 0 0 0 0 9.701 212649 chr9 90114038 90114038 G C rs759598995 DAPK1 Nonsynonymous SNV G16R 0.006 0 0 0 7 0 0 0 0 0 0 0 25.9 212650 chr7 136700642 136700642 G A rs201165506 CHRM2 Nonsynonymous SNV V344M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.1 212651 chr11 120107411 120107411 G C rs882856 POU2F3 Nonsynonymous SNV G10A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 212652 chr7 137586113 137586113 C T CREB3L2 Nonsynonymous SNV E281K 0 0 0 1 0 0 0.003 0 0 0 0 0 27 212653 chr2 71175462 71175462 G A ATP6V1B1-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.519 212654 chr2 74641839 74641839 C T rs772547116 C2orf81 Nonsynonymous SNV V394M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.643 212655 chr15 93545426 93545426 G C CHD2 Nonsynonymous SNV S1386T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.55 212656 chr2 75081441 75081441 A C HK2 Star tloss M29L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.29 212657 chr9 100887157 100887157 C T rs777383128 CORO2A Nonsynonymous SNV E493K 0.003 0 0 0 3 0 0 0 0 0 0 0 35 212658 chr2 84668450 84668450 T G rs778946494 SUCLG1 Nonsynonymous SNV D151A 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 212659 chr11 64564835 64564835 G A rs771231481 MAP4K2 Synonymous SNV D396D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.425 212660 chr9 104239080 104239080 G A rs1015973436 PGAP4 Nonsynonymous SNV R99W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 212661 chr11 64607024 64607024 C T rs78269641 CDC42BPG Nonsynonymous SNV V201I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.555 212662 chr9 139391376 139391376 C T rs972658026 NOTCH1 Nonsynonymous SNV R2272H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.9 212663 chr16 1129734 1129734 T C SSTR5 Nonsynonymous SNV V289A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.313 212664 chr15 41815063 41815063 C T rs61748721 RPAP1 Nonsynonymous SNV R881H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.33 212665 chr15 42127420 42127420 G T rs75094146 JMJD7, JMJD7-PLA2G4B Synonymous SNV L157L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.711 212666 chr11 124949594 124949594 C T rs775053012 SLC37A2 Synonymous SNV L155L 0 0 0 2 0 0 0.005 0 0 0 0 0 17.21 212667 chr7 149500160 149500160 G A rs777049182 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 3.802 212668 chr7 151136989 151136989 C T rs116501631 CRYGN Synonymous SNV S5S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 14.48 212669 chr15 42978417 42978417 T C rs183414402 STARD9 Synonymous SNV F1547F 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 0.009 212670 chr9 116931649 116931649 C T rs372013019 COL27A1 Nonsynonymous SNV T605M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.9 212671 chr16 1825822 1825824 CTC - rs767669677 EME2 S269del 0 0.003 0 0 0 1 0 0 0 0 0 0 212672 chr15 40750846 40750846 A G rs770762022 BAHD1 Synonymous SNV P61P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.38 212673 chr9 21409587 21409587 G C IFNA8 Nonsynonymous SNV D138H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 212674 chr9 117666495 117666495 T C rs757194418 TNFSF8 Nonsynonymous SNV I141V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 212675 chr11 67888435 67888435 - GGCAGC rs769697023 CHKA P70_Q71insLP 0.001 0 0.003 0 1 0 0 1 0 0 0 0 212676 chr9 2729623 2729623 C T rs537588654 KCNV2 Nonsynonymous SNV R512C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 212677 chr15 42041360 42041360 C T rs759976471 MGA Nonsynonymous SNV P1643L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.8 212678 chr9 33917088 33917088 C T rs141453734 UBE2R2 Synonymous SNV Y190Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.682 212679 chr15 42143565 42143565 A G SPTBN5 Synonymous SNV P3553P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 212680 chr16 2134671 2134671 G C rs370114027 TSC2 Nonsynonymous SNV R1239T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.6 212681 chr9 35092126 35092126 G A rs144103228 PIGO Synonymous SNV V586V 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.116 212682 chr9 36085317 36085317 A C rs867033774 RECK Nonsynonymous SNV H231P 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 1.119 212683 chr2 131096752 131096752 G A CCDC115 Stop gain R157X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 212684 chr9 5920028 5920028 C T rs201556528 KIAA2026 Nonsynonymous SNV A1990T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.767 212685 chr16 2506862 2506862 G A rs115100621 CCNF Synonymous SNV S426S 0.001 0.008 0.007 1 1 3 0.003 2 0 0 0 0 Benign 7.322 212686 chr16 25251430 25251430 T C rs61742936 ZKSCAN2 Nonsynonymous SNV S871G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 212687 chr15 65112129 65112129 C T rs369245790 PIF1 Nonsynonymous SNV R417Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 212688 chr2 152235888 152235888 G A rs75295519 TNFAIP6 Nonsynonymous SNV M225I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 212689 chr11 77728067 77728067 C T rs377147362 KCTD14 Nonsynonymous SNV E114K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 212690 chr2 152543967 152543967 A G rs143123053 NEB Nonsynonymous SNV L868P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 25.5 212691 chr2 153533146 153533146 A G rs116882656 PRPF40A Synonymous SNV N292N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.508 212692 chr16 31160423 31160423 C T PRSS36 Stop gain W81X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 212693 chr16 3142096 3142096 C T rs371304715 ZSCAN10 Synonymous SNV P206P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.052 212694 chr9 135073712 135073712 C G rs767699508 NTNG2 Nonsynonymous SNV H191Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.73 212695 chr16 31485158 31485158 C T rs201803234 TGFB1I1 Nonsynonymous SNV T62M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 212696 chr9 135224670 135224670 T C rs142551293 SETX Nonsynonymous SNV K49R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.52 212697 chr2 163128783 163128783 C T rs768238624 IFIH1 Nonsynonymous SNV A857T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 212698 chr9 96079879 96079879 C T rs762094203 WNK2 Synonymous SNV P2198P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 212699 chr9 98232081 98232081 G A rs202007968 LOC100507346 0.002 0 0.02 0 2 0 0 6 0 0 0 0 Conflicting interpretations of pathogenicity 6.096 212700 chrUn_gl000220 118688 118688 - GCCGA RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.007 0 0 0 0 2 0 0 0 0 212701 chr2 169713267 169713267 C G rs200081205 NOSTRIN Nonsynonymous SNV D316E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.455 212702 chr9 136915690 136915690 C T rs139963253 BRD3 Nonsynonymous SNV V174M 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.1 212703 chr9 137674521 137674521 C T rs148648778 COL5A1 Synonymous SNV D813D 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Benign 18.14 212704 chr11 93460763 93460763 G C CEP295 Nonsynonymous SNV S2374T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.701 212705 chr9 138011670 138011670 C T rs137929148 OLFM1 Synonymous SNV Y368Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.71 212706 chrX 103359829 103359829 C T rs782789285 ZCCHC18 Stop gain R343X 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 212707 chrX 109698480 109698480 C A rs139057034 RTL9 Synonymous SNV P1366P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 212708 chr5 148892653 148892653 T C rs372201931 CSNK1A1 Synonymous SNV A192A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.791 212709 chr16 50388709 50388709 T C rs750271959 BRD7 Nonsynonymous SNV Q128R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 212710 chrX 118250580 118250580 T C KIAA1210 Nonsynonymous SNV K177E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 212711 chr9 139401402 139401402 C T rs373064962 NOTCH1 Nonsynonymous SNV D1223N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.6 212712 chrX 118725232 118725232 A G rs41304530 NKRF Synonymous SNV H52H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 212713 chrX 123514799 123514799 C T rs776990800 TENM1 Nonsynonymous SNV G2589S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 212714 chr2 179498194 179498194 C T rs778634417 TTN Nonsynonymous SNV E5233K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 212715 chr2 179596953 179596953 A G rs754798297 TTN Synonymous SNV D4337D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.223 212716 chr9 139793376 139793376 C T TRAF2 Nonsynonymous SNV L62F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 212717 chrX 131188674 131188674 C G STK26 Nonsynonymous SNV P20A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 212718 chr9 139937511 139937511 G A rs749042743 NPDC1 Nonsynonymous SNV P43S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.8 212719 chrX 136113567 136113567 C T rs144787779 GPR101 Synonymous SNV V89V 0 0 0.01 0 0 0 0 3 0 0 1 0 Likely benign 9.571 212720 chrX 136648899 136648899 G T rs147232392 ZIC3 Nonsynonymous SNV G17C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 212721 chr16 57416119 57416119 G A rs774017137 CX3CL1 Synonymous SNV E38E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.11 212722 chr15 89070986 89070986 G A rs201960185 DET1 Nonsynonymous SNV T372M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.6 212723 chr15 79749242 79749242 G A rs61750761 MINAR1 Synonymous SNV Q251Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.457 212724 chr15 80845045 80845045 G A rs369038283 ARNT2 Nonsynonymous SNV R340Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 212725 chrX 148585762 148585762 C T IDS Synonymous SNV G55G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 212726 chr9 141016451 141016451 G A rs200533477 CACNA1B Synonymous SNV X2340X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.393 212727 chr3 49738943 49738943 G A rs750955001 RNF123 Nonsynonymous SNV V433I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.28 212728 chr16 66997813 66997813 C T rs148620443 CES3 Nonsynonymous SNV R179C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 212729 chr3 51696770 51696770 C T rs768258627 RAD54L2 Synonymous SNV H1246H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.202 212730 chr11 4903819 4903819 T C rs757168818 OR51T1 Synonymous SNV I230I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.612 212731 chrX 19475048 19475048 A G rs7888503 MAP3K15 Synonymous SNV Y326Y 0 0 0.014 0 0 0 0 4 0 0 1 0 1.679 212732 chr15 92706164 92706164 G A rs76086457 SLCO3A1 Synonymous SNV T644T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.89 212733 chr15 92981820 92981820 C T rs115974531 ST8SIA2 Synonymous SNV D155D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.053 212734 chrX 20194447 20194447 A G rs150848826 RPS6KA3 Synonymous SNV H341H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.892 212735 chr5 171318513 171318513 A G rs767949795 FBXW11 Synonymous SNV D215D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.339 212736 chr15 98984367 98984367 A T rs76060825 FAM169B Nonsynonymous SNV V131E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.981 212737 chr7 89917557 89917557 G A rs369319931 CFAP69 Nonsynonymous SNV G556R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 212738 chr3 52858187 52858187 T G rs764860802 ITIH4-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.291 212739 chrX 37883168 37883171 AAGT - rs145326096 MIR548AJ2 0 0 0.02 0 0 0 0 6 0 0 3 0 212740 chr16 11565407 11565407 C G rs183248295 LOC101927131 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.093 212741 chr7 93072946 93072946 G A rs368464231 CALCR Nonsynonymous SNV R258C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 212742 chr2 207652844 207652844 C T rs150016888 FASTKD2 Nonsynonymous SNV S593L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.597 212743 chrX 46387831 46387831 G T rs760459210 ZNF674 Nonsynonymous SNV D64E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 212744 chr16 1484428 1484428 G A CCDC154 Nonsynonymous SNV S662L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 212745 chr15 93015633 93015633 A C rs116841563 C15orf32 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 212746 chr16 1545500 1545500 G A TELO2 Synonymous SNV L163L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.79 212747 chr12 122413447 122413447 G A rs1005373124 WDR66 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 212748 chr2 216964896 216964896 T G rs775525173 TMEM169 Synonymous SNV S175S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 212749 chrX 77913256 77913256 G A rs200454840 RTL3 Nonsynonymous SNV A221V 0 0 0.01 0 0 0 0 3 0 0 1 0 12.54 212750 chrX 78011149 78011149 C T rs537765034 LPAR4 Synonymous SNV C261C 0.001 0.005 0.014 0 1 2 0 4 0 1 1 0 3.109 212751 chr16 846780 846780 G A rs374658777 CHTF18 Synonymous SNV T840T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.282 212752 chr16 1869972 1869972 - CGA rs772404975 HAGH S119_G120insS 0 0.003 0 0 0 1 0 0 0 0 0 0 212753 chr10 102891331 102891331 G A TLX1 Synonymous SNV P11P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 212754 chr2 220404336 220404336 C T rs114128742 CHPF Synonymous SNV E537E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.88 212755 chr10 104210258 104210258 C T C10orf95 Nonsynonymous SNV R198Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 212756 chr16 88721747 88721747 C T rs202128233 MVD Nonsynonymous SNV A253T 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 25.9 212757 chr10 105762170 105762170 C A rs767816821 SLK Nonsynonymous SNV L412I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.594 212758 chr2 220435836 220435836 G C rs191256186 OBSL1 Nonsynonymous SNV P40R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.005 212759 chr3 111821711 111821711 G A rs139531193 C3orf52 Nonsynonymous SNV E99K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 212760 chr12 133226046 133226046 C T rs149462407 POLE Nonsynonymous SNV R1284Q 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 212761 chr16 2580271 2580271 C T rs760683908 AMDHD2 Synonymous SNV A432A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 212762 chr16 2820708 2820708 C T rs201174755 SRRM2 Nonsynonymous SNV R2747C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 212763 chr16 89341597 89341597 G A rs371943158 ANKRD11 Synonymous SNV I2491I 0 0.003 0 4 0 1 0.01 0 0 0 0 0 10.45 212764 chr12 16430533 16430533 G A rs776441301 SLC15A5 Synonymous SNV G29G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.774 212765 chr6 25966909 25966909 G T rs41266771 TRIM38 Nonsynonymous SNV R53S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.015 212766 chr2 230923978 230923978 C T rs752970551 SLC16A14 Nonsynonymous SNV G31R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 212767 chr12 18793445 18793445 C T rs774645849 PIK3C2G Nonsynonymous SNV T1381I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 212768 chr6 26124852 26124852 G A H2AC6 Synonymous SNV X131X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.66 212769 chr16 3025785 3025785 T C PKMYT1 Nonsynonymous SNV Y67C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 212770 chr16 30674137 30674137 C T rs778845075 FBRS Nonsynonymous SNV R338C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 212771 chr3 122631751 122631751 C T rs147850451 SEMA5B Synonymous SNV G830G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.4 212772 chr10 71906222 71906222 G C rs777132641 TYSND1 Nonsynonymous SNV R41G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 212773 chr6 36044345 36044345 C G rs201451587 MAPK14 Synonymous SNV A214A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.37 212774 chr3 126201217 126201217 G A rs550425741 UROC1 Nonsynonymous SNV R668W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 212775 chr10 73048476 73048476 G A UNC5B Synonymous SNV G351G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.516 212776 chr3 126730943 126730943 C T rs145010644 PLXNA1 Nonsynonymous SNV P752L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 212777 chr6 38875807 38875807 C T DNAH8 Nonsynonymous SNV P2925S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 212778 chr10 135012576 135012576 G A KNDC1 Nonsynonymous SNV R855H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 212779 chr16 52497869 52497869 G A rs201752610 TOX3 Nonsynonymous SNV L129F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 212780 chr10 75567509 75567509 C T rs368853395 NDST2 Nonsynonymous SNV R213H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 212781 chr10 16824073 16824073 G T rs146386339 RSU1 Synonymous SNV S40S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.935 212782 chr10 85981867 85981867 C T rs190259697 LRIT2 Nonsynonymous SNV G488S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 212783 chr11 62300226 62300226 G A AHNAK Nonsynonymous SNV P555S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 212784 chr10 24813600 24813600 C T rs185768873 KIAA1217 Synonymous SNV S618S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 212785 chr16 633068 633068 G A rs752492969 PIGQ Nonsynonymous SNV G573S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 212786 chr3 138669284 138669284 C T FOXL2NB Nonsynonymous SNV A133V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 212787 chr11 64559669 64559669 G A rs145848436 MAP4K2 Nonsynonymous SNV P622L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 33 212788 chr3 20193864 20193864 C T rs751776783 KAT2B Synonymous SNV Y782Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.14 212789 chr11 64950196 64950196 G T CAPN1 Synonymous SNV P8P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.221 212790 chr10 101716379 101716379 G T DNMBP Synonymous SNV S284S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.174 212791 chr17 34943464 34943464 A G GGNBP2 Nonsynonymous SNV N560S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.596 212792 chr16 66423420 66423420 C T rs372943076 CDH5 Nonsynonymous SNV T259I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 212793 chr3 184040371 184040371 G C rs111924994 EIF4G1 Nonsynonymous SNV A354P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.889 212794 chr3 184085996 184085996 A C rs749215472 POLR2H Nonsynonymous SNV M95L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 212795 chr16 67976393 67976393 G C rs370602125 LCAT Synonymous SNV G207G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.662 212796 chr16 68156352 68156352 A G rs371500276 NFATC3 Nonsynonymous SNV Y189C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 212797 chr8 29194636 29194636 G A rs368211989 DUSP4 Synonymous SNV F364F 0 0 0 2 0 0 0.005 0 0 0 0 0 10.51 212798 chr3 44776237 44776237 C G rs371905343 ZNF501 Nonsynonymous SNV C108W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 212799 chr10 72292491 72292491 A T rs141669123 PALD1 Nonsynonymous SNV T250S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 212800 chr10 72324166 72324166 G A rs748294757 PALD1 Nonsynonymous SNV R770Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 212801 chr16 72055187 72055187 G A rs201202896 DHODH Nonsynonymous SNV E228K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.42 212802 chr17 39383270 39383270 T C rs769349090 KRTAP9-2 Nonsynonymous SNV Y122H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 212803 chr3 46755917 46755917 G A rs143844723 PRSS50 Nonsynonymous SNV P182L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.309 212804 chr8 48889277 48889277 T C MCM4 Nonsynonymous SNV L844P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29 212805 chr10 8007690 8007690 A G rs145403264 TAF3 Synonymous SNV K739K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.748 212806 chr8 56436155 56436155 A G rs753881169 XKR4 Nonsynonymous SNV Y441C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 212807 chr3 49049243 49049243 C T WDR6 Synonymous SNV L66L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.918 212808 chr17 40322139 40322139 G A rs368992196 KCNH4 Nonsynonymous SNV T459M 0 0.003 0 0 0 1 0 0 0 0 0 0 23 212809 chr3 49946756 49946756 C T rs778965655 MON1A Nonsynonymous SNV R421H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 212810 chr3 51969477 51969477 G A rs371007122 RRP9 Synonymous SNV D284D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.451 212811 chr3 51981878 51981878 G A rs760510733 PARP3 Nonsynonymous SNV D474N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.18 212812 chr10 93719618 93719618 G A rs760325397 BTAF1 Nonsynonymous SNV G356E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.1 212813 chr6 133100407 133100407 C T rs141376596 SLC18B1 Synonymous SNV K265K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.45 212814 chr3 52724961 52724961 C T rs746216595 GNL3 Nonsynonymous SNV R219C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 212815 chr3 52842629 52842629 G A rs199755994 ITIH3 Nonsynonymous SNV V869I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 212816 chr10 135082986 135082986 C T rs144766951 ADAM8 Synonymous SNV P572P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 212817 chr16 84520428 84520428 G C rs146538493 MEAK7 Nonsynonymous SNV A256G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.02 212818 chr6 147830461 147830461 A G SAMD5 Nonsynonymous SNV M133V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.87 212819 chr3 69079037 69079037 T C rs61737464 TMF1 Synonymous SNV E844E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.339 212820 chr3 69113229 69113229 A G rs61737489 UBA3 Synonymous SNV T113T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.953 212821 chr9 101608297 101608297 C T rs35632007 GALNT12 Synonymous SNV N499N 0 0.003 0.01 2 0 1 0.005 3 0 0 0 0 Benign/Likely benign 11.77 212822 chr6 151265678 151265678 G T MTHFD1L Synonymous SNV L500L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.443 212823 chr9 105767661 105767661 G T CYLC2 Nonsynonymous SNV D250Y 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 212824 chr9 106880515 106880515 G T rs76421718 SMC2 Nonsynonymous SNV A619S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 29.2 212825 chr17 18139978 18139978 C T rs750250326 LLGL1 Synonymous SNV L470L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.02 212826 chr9 107583774 107583774 C T rs746263501 ABCA1 Nonsynonymous SNV G948R 0 0 0 1 0 0 0.003 0 0 0 0 0 35 212827 chr11 94277950 94277950 C T FUT4 Synonymous SNV I217I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 212828 chr6 155054983 155054983 C T SCAF8 Synonymous SNV C61C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.53 212829 chr6 157099496 157099496 G C ARID1B Nonsynonymous SNV G145R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 212830 chr3 98109745 98109745 C T rs763478231 OR5K3 Nonsynonymous SNV P79L 0 0.003 0 0 0 1 0 0 0 0 0 0 28 212831 chr3 99643175 99643175 A G rs201828035 FILIP1L Synonymous SNV R168R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.678 212832 chr12 10145821 10145821 T A rs776692567 CLEC1B Nonsynonymous SNV H171L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.89 212833 chr6 160500698 160500698 C T IGF2R Synonymous SNV V1855V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.14 212834 chr12 102158329 102158329 G A GNPTAB Nonsynonymous SNV T789I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.78 212835 chr6 160557288 160557288 A T rs746056691 SLC22A1 Nonsynonymous SNV Q292H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.43 212836 chr13 103701654 103701654 C T rs201822357 SLC10A2 Nonsynonymous SNV A302T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.88 212837 chr11 10585876 10585876 A G LYVE1 Nonsynonymous SNV V44A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 212838 chr11 1093323 1093323 C T rs7948036 MUC2 Synonymous SNV T1714T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.977 212839 chr17 27240951 27240951 T C rs754028609 PHF12 Synonymous SNV S413S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.775 212840 chr3 118645038 118645038 G A rs139003844 IGSF11 Nonsynonymous SNV L164F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.88 212841 chr12 109052678 109052678 T C CORO1C Nonsynonymous SNV I209V 0 0 0 2 0 0 0.005 0 0 0 0 0 15.92 212842 chr9 125316334 125316334 A G rs746756696 OR1N2 Nonsynonymous SNV M282V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 212843 chr17 18047825 18047825 G A rs55688805 MYO15A Synonymous SNV G2064G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.19 212844 chr17 18141893 18141893 C T rs72831933 LLGL1 Synonymous SNV L726L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.14 212845 chr17 33749359 33749359 G A rs761786861 SLFN12 Nonsynonymous SNV A230V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 212846 chr3 122277308 122277308 C T rs565162400 PARP9 Nonsynonymous SNV G8R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.76 212847 chr11 118502117 118502117 G A rs375882353 PHLDB1 Nonsynonymous SNV R674H 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 23.5 212848 chr11 118869741 118869741 C T rs140617350 CCDC84 Nonsynonymous SNV T102I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 212849 chr17 67519734 67519734 G C rs375580762 MAP2K6 Synonymous SNV V149V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.9 212850 chr17 6942170 6942170 T C rs988950153 SLC16A13 Nonsynonymous SNV I348T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 212851 chr12 113532997 113532997 A G DTX1 Nonsynonymous SNV T513A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 212852 chr7 6548877 6548877 C T rs377425738 GRID2IP Synonymous SNV P613P 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 15.13 212853 chr17 36622718 36622718 G C rs779052973 ARHGAP23 Nonsynonymous SNV R265P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 212854 chr13 32799941 32799941 G A rs754868153 FRY Nonsynonymous SNV R1679Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 212855 chr9 130549058 130549058 G A rs139206714 CDK9 Synonymous SNV E57E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.91 212856 chr11 121485608 121485608 T C rs150315143 SORL1 Synonymous SNV Y1816Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.289 212857 chr9 131262512 131262512 G A rs142129915 ODF2 Nonsynonymous SNV R867H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.4 212858 chr17 37985731 37985731 C A rs539420917 IKZF3 Synonymous SNV A24A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.63 212859 chr7 12620766 12620766 A G rs189312864 SCIN Nonsynonymous SNV R146G 0.005 0.005 0.003 1 6 2 0.003 1 0 0 0 0 26.9 212860 chr3 132242476 132242476 C T rs61741053 DNAJC13 Synonymous SNV A1993A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.22 212861 chr3 132294680 132294680 G T rs36121581 ACAD11 Nonsynonymous SNV A646D 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 212862 chr3 132345648 132345648 C A rs6776576 ACAD11 Nonsynonymous SNV V362L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 212863 chr3 133698384 133698384 T C SLCO2A1 Nonsynonymous SNV I59V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 212864 chr17 27944054 27944054 A G CORO6 Nonsynonymous SNV F20L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 212865 chr3 138178086 138178086 C T rs145007016 ESYT3 Synonymous SNV N213N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.42 212866 chr3 142274753 142274753 T C ATR Synonymous SNV L705L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 212867 chr3 146167089 146167089 T A rs118036548 PLSCR2 Nonsynonymous SNV R252S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 212868 chr9 135979659 135979659 C T rs151011537 RALGDS Synonymous SNV P499P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.576 212869 chr12 12878949 12878949 G T rs562420626 APOLD1 Synonymous SNV P5P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.7 212870 chr3 148871279 148871279 A T HPS3 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 24.3 212871 chr12 131620643 131620643 G T ADGRD1 Nonsynonymous SNV V777L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.66 212872 chr9 138774769 138774769 C G rs1053855234 CAMSAP1 Nonsynonymous SNV G106R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 212873 chr9 139409971 139409971 T G NOTCH1 Nonsynonymous SNV N623H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 212874 chr17 78064064 78064064 - GCACGTGCACGAACAACACGGGACGCGCGCA CCDC40 Frameshift insertion H988Tfs*116 0 0.003 0 0 0 1 0 0 0 0 0 0 212875 chr17 7810944 7810944 G T rs375492899 CHD3 Nonsynonymous SNV R1709S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 212876 chr17 42328795 42328795 C T rs780297314 SLC4A1 Nonsynonymous SNV V825I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 212877 chr3 182755181 182755181 C G MCCC1 Synonymous SNV L356L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 212878 chr9 140128904 140128904 T C rs922261737 SLC34A3 Nonsynonymous SNV L377P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 212879 chr11 6661535 6661535 G A DCHS1 Nonsynonymous SNV A437V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 212880 chr11 22881001 22881001 C - CCDC179 Q30Sfs*13 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 212881 chr17 79671298 79671298 C T rs148659191 MRPL12 Synonymous SNV A33A 0 0.008 0 0 0 3 0 0 0 0 0 0 Benign 13.63 212882 chr12 29523117 29523117 T C rs563896541 ERGIC2 Nonsynonymous SNV I49V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.09 212883 chr3 184298942 184298942 C T rs551443278 EPHB3 Synonymous SNV S907S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 212884 chr11 280941 280941 G C NLRP6 Nonsynonymous SNV E403Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.957 212885 chr11 281785 281787 AGA - rs199476226 NLRP6 K688del 0 0 0.003 0 0 0 0 1 0 0 0 0 212886 chr17 80422230 80422230 G A rs759163008 NARF Nonsynonymous SNV C59Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.2 212887 chr18 10759620 10759620 C T MIR6788 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.83 212888 chr7 82585672 82585672 C T rs746137982 PCLO Nonsynonymous SNV V1533I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.66 212889 chr12 48190053 48190053 G A rs143116152 HDAC7 Synonymous SNV P227P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.28 212890 chr14 24652017 24652019 TCC - rs778573523 IPO4 E820del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 212891 chr11 4567360 4567368 ATGAAGATT - rs148181600 OR52M1 M314_I316del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 212892 chr3 196449372 196449372 G A rs377629523 PIGX Nonsynonymous SNV G88E 0 0.005 0 0 0 2 0 0 0 0 0 0 27 212893 chr14 24900979 24900979 C G rs778375644 KHNYN Nonsynonymous SNV P212R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 212894 chr4 436992 436992 G A rs200194061 ZNF721 Nonsynonymous SNV R422C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.042 212895 chr14 35488246 35488246 A G rs756570690 SRP54 Synonymous SNV K325K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.557 212896 chr12 50041496 50041496 C T rs781556112 FMNL3 Nonsynonymous SNV R872H 0 0 0 1 0 0 0.003 0 0 0 0 0 26 212897 chr17 46030303 46030303 G A PRR15L Nonsynonymous SNV R100W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 212898 chr4 3190693 3190693 G T rs374357492 HTT Synonymous SNV L1747L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.902 212899 chr11 46727387 46727387 G A rs201697919 ZNF408 Nonsynonymous SNV V705M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 212900 chr11 48238996 48238996 T A rs199813864 OR4B1 Stop gain L212X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 212901 chr12 53238446 53238446 T A rs201067287 KRT78 Nonsynonymous SNV N163I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 212902 chr4 8469757 8469757 G C rs35357682 TRMT44 Nonsynonymous SNV W296C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.414 212903 chr14 67787901 67787901 G T rs775141362 MPP5 Nonsynonymous SNV L521F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 212904 chr17 55822444 55822444 C G rs199973441 CCDC182 Nonsynonymous SNV D64H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 212905 chrX 119573053 119573053 C T rs730880488 LAMP2 Nonsynonymous SNV V397I 0 0 0 2 0 0 0.005 0 0 0 0 1 Uncertain significance 17.54 212906 chrX 129149341 129149341 G A rs764529465 BCORL1 Nonsynonymous SNV V865I 0.002 0 0 4 2 0 0.01 0 1 0 0 1 0.565 212907 chr4 13612627 13612627 T C rs752089616 BOD1L1 Synonymous SNV P474P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.874 212908 chr12 55615491 55615491 T A OR10A7 Nonsynonymous SNV M228K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 212909 chr17 61621446 61621446 C T KCNH6 Synonymous SNV S769S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.648 212910 chr12 56720655 56720655 A C rs977995107 PAN2 Nonsynonymous SNV F336L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 212911 chr12 58163602 58163602 G A rs372769807 METTL1 Nonsynonymous SNV R138C 0 0 0 2 0 0 0.005 0 0 0 0 0 34 212912 chr4 40428091 40428091 C T rs35529250 RBM47 Nonsynonymous SNV G469R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 212913 chr11 58892090 58892090 C T rs200180340 FAM111B Nonsynonymous SNV R144C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 212914 chr17 72560163 72560163 C T rs772931105 CD300H, LOC100130520 Nonsynonymous SNV D105N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 212915 chr17 72929476 72929476 A G OTOP2 Nonsynonymous SNV I509V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 212916 chr12 77423627 77423627 G A rs73133236 E2F7 Nonsynonymous SNV S623L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 212917 chr19 12940782 12940782 C A rs146588835 RTBDN Nonsynonymous SNV R4S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 212918 chr19 13318316 13318316 G A CACNA1A Synonymous SNV S2444S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.631 212919 chr5 74807153 74807153 G - rs893362976 CERT1 T89Hfs*85 0.001 0.003 0 0 1 1 0 0 0 0 0 0 212920 chr19 14162972 14162972 C T rs139468413 IL27RA Nonsynonymous SNV P594L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.975 212921 chr12 81101767 81101767 C A rs138296448 MYF6 Nonsynonymous SNV A90D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign/Likely benign 28.9 212922 chr17 79507974 79507974 T C rs143679767 FAAP100 Synonymous SNV T839T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.041 212923 chr11 61508758 61508758 C T rs756737819 DAGLA Nonsynonymous SNV P703L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 212924 chr12 89890968 89890968 C T POC1B Synonymous SNV V42V 0 0 0 2 0 0 0.005 0 0 0 0 0 15.49 212925 chr10 102987051 102987051 G T LBX1 Nonsynonymous SNV D274E 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 212926 chr11 62159613 62159613 T C rs915242661 ASRGL1 Synonymous SNV L262L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.916 212927 chr4 84232019 84232019 G C rs12512551 HPSE Nonsynonymous SNV A175G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 212928 chr17 80136405 80136405 C T rs990933080 CCDC57 Nonsynonymous SNV R484Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 32 212929 chr5 82835880 82835880 C T rs200015194 VCAN Nonsynonymous SNV T1366M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.37 212930 chr4 87622824 87622824 C A rs114301539 PTPN13 Synonymous SNV G355G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.62 212931 chr4 87666269 87666269 G T rs61757791 PTPN13 Nonsynonymous SNV A880S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 212932 chr4 88243943 88243943 G A rs59739874 HSD17B13 Synonymous SNV S17S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.72 212933 chr4 88278484 88278484 T G rs34025653 HSD17B11 Synonymous SNV T214T 0.003 0.003 0 0 3 1 0 0 1 0 0 0 7.522 212934 chr17 76116751 76116751 A G rs757818144 TMC6 Synonymous SNV F566F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.23 212935 chr12 98927533 98927533 A G rs727505217 TMPO Nonsynonymous SNV K500E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 24 212936 chr19 16664517 16664517 C T rs149234581 SLC35E1 Synonymous SNV S402S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 212937 chr18 10540014 10540014 C G rs181135025 NAPG Nonsynonymous SNV A133G 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 31 212938 chr11 65266433 65266433 C G rs774978403 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.688 212939 chr13 103398791 103398791 T G rs751208068 CCDC168 Nonsynonymous SNV H1419P 0 0 0 2 0 0 0.005 0 0 0 0 0 1.802 212940 chr4 108853195 108853195 C T rs368014569 CYP2U1 Synonymous SNV D132D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21.9 212941 chr18 19399559 19399559 A G MIB1 Nonsynonymous SNV N594S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 212942 chr4 119947899 119947899 G C rs764524011 SYNPO2 Nonsynonymous SNV K125N 0 0.003 0 0 0 1 0 0 0 0 0 0 13 212943 chr11 65617492 65617492 C T rs139666558 SNX32 Synonymous SNV A81A 0.003 0 0 0 4 0 0 0 0 0 0 0 18.86 212944 chr11 66252702 66252702 G T DPP3 Nonsynonymous SNV G110V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 212945 chr11 66359378 66359378 C T CCDC87 Nonsynonymous SNV R370H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 212946 chr15 44063356 44063356 C T rs3759789 PDIA3 Synonymous SNV N486N 0.006 0.003 0.007 1 7 1 0.003 2 0 0 0 0 11 212947 chr11 68821507 68821507 C T rs150671549 TPCN2 Nonsynonymous SNV A39V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.028 212948 chr11 6942953 6942953 G A rs763307357 OR2D3 Nonsynonymous SNV V241I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 212949 chr11 70013464 70013464 C T rs200119718 ANO1 Nonsynonymous SNV A723V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.1 212950 chr4 152096013 152096013 G A rs147501781 SH3D19 Nonsynonymous SNV P168L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 212951 chr11 71208536 71208536 T C NADSYN1 Nonsynonymous SNV M591T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 212952 chr11 71201937 71201937 A T rs765480234 NADSYN1 Nonsynonymous SNV N537Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 212953 chr11 73021417 73021417 C T rs762014607 ARHGEF17 Synonymous SNV A578A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.961 212954 chr17 9559737 9559737 C T rs538991468 USP43 Synonymous SNV Y174Y 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 12.86 212955 chr11 73718000 73718000 C T rs199939445 UCP3 Nonsynonymous SNV V30I 0.003 0 0 0 3 0 0 0 0 0 0 0 11.62 212956 chr8 17447113 17447113 G A rs372739699 PDGFRL Synonymous SNV T64T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.775 212957 chr11 76372149 76372149 C T rs139040227 LRRC32 Nonsynonymous SNV R53H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 212958 chr11 76890116 76890116 G A rs375253473 MYO7A Nonsynonymous SNV A770T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 212959 chr18 21739592 21739593 CA - rs747680404 CABYR Q136Vfs*69 0.001 0 0 0 1 0 0 0 0 0 0 0 212960 chr11 77301064 77301064 C A AQP11 Synonymous SNV S9S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 212961 chr13 42875104 42875104 C G rs760913015 AKAP11 Nonsynonymous SNV T741R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.1 212962 chr11 82560105 82560105 C G PRCP Nonsynonymous SNV A198P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 212963 chr10 24832993 24832993 G C KIAA1217 Nonsynonymous SNV K1598N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 212964 chr11 86518703 86518703 G A rs148849426 PRSS23 Synonymous SNV G6G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.43 212965 chr11 88068120 88068120 C A CTSC Nonsynonymous SNV W101C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 212966 chr18 31323990 31323990 C T rs750606596 ASXL3 Nonsynonymous SNV A1393V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.4 212967 chr18 61223506 61223506 C T SERPINB12 Synonymous SNV A38A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.84 212968 chr8 26265752 26265752 C T rs139026759 BNIP3L Synonymous SNV H117H 0.005 0 0 1 6 0 0.003 0 0 0 0 0 12.94 212969 chr18 65178238 65178238 T G rs138443247 DSEL Nonsynonymous SNV D1203A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.821 212970 chr4 187535437 187535437 G A rs781285009 FAT1 Nonsynonymous SNV S3046F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 212971 chr13 61103211 61103211 A G rs142950105 TDRD3 Nonsynonymous SNV I618V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 212972 chr8 27362537 27362537 C T EPHX2 Synonymous SNV A71A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 11.87 212973 chr11 94113830 94113830 G A GPR83 Nonsynonymous SNV L211F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 212974 chr18 47390573 47390573 C T rs372107755 MYO5B Nonsynonymous SNV V1261M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 212975 chr11 99827654 99827654 G A rs752639831 CNTN5 Nonsynonymous SNV V190I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 212976 chr13 86368400 86368400 G T rs377631623 SLITRK6 Synonymous SNV S748S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.04 212977 chr18 51690958 51690958 A G rs61753467 MBD2 Synonymous SNV P348P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.127 212978 chr18 51846689 51846689 G T rs181073758 POLI Nonsynonymous SNV R415S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 212979 chr14 100111694 100111694 G C rs751957573 HHIPL1 Nonsynonymous SNV E50D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 212980 chr8 51449331 51449331 C T rs768385931 SNTG1 Nonsynonymous SNV R215C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 212981 chr5 14359550 14359550 G A rs752703966 TRIO Synonymous SNV A767A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.75 212982 chr12 107713213 107713213 A C rs145688334 BTBD11 Nonsynonymous SNV M166L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 212983 chr14 104641427 104641427 C T rs538555518 KIF26A Nonsynonymous SNV R768C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.6 212984 chr12 109536366 109536366 C T rs151095402 UNG Nonsynonymous SNV R79C 0.001 0 0.014 1 1 0 0.003 4 0 0 0 0 Conflicting interpretations of pathogenicity 35 212985 chr19 40877584 40877584 A G rs767930430 PLD3 Nonsynonymous SNV K228R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.8 212986 chr19 40886860 40886860 G A rs1029674069 HIPK4 Synonymous SNV F346F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.265 212987 chr12 111801151 111801151 C T PHETA1 Synonymous SNV K27K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 212988 chr5 37173870 37173870 A T rs189493985 CPLANE1 Nonsynonymous SNV F2053Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.6 212989 chr14 23451116 23451116 G C AJUBA Synonymous SNV P120P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.472 212990 chr14 23885366 23885366 G A rs1057521761 MYH7 Synonymous SNV S1600S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.492 212991 chr8 132052457 132052457 C T rs372258768 ADCY8 Synonymous SNV A41A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.51 212992 chr19 11231159 11231159 G A rs368838866 LDLR Nonsynonymous SNV G533S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.14 212993 chr14 24877585 24877585 G A rs779532173 NYNRIN Nonsynonymous SNV V237M 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.029 212994 chr14 26917983 26917983 G C rs771051381 NOVA1 Nonsynonymous SNV L175V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.9 212995 chr19 12243747 12243747 A G rs140674699 ZNF20 Synonymous SNV T415T 0.003 0 0 0 4 0 0 0 0 0 0 0 8.061 212996 chr19 12258256 12258256 C A rs144252279 ZNF625 Nonsynonymous SNV D49Y 0.003 0 0 0 4 0 0 0 0 0 0 0 24 212997 chr12 18435035 18435035 C T rs191077735 PIK3C2G Nonsynonymous SNV T7M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 212998 chr19 12461421 12461421 G A rs144013357 ZNF442 Synonymous SNV C257C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.121 212999 chr5 79966045 79966045 A G rs779129001 MSH3 Nonsynonymous SNV I237V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.36 213000 chr6 26021115 26021116 GA - rs770926417 H3C1 R135Gfs*21 0.001 0.003 0 0 1 1 0 0 0 0 0 0 213001 chr12 21358925 21358925 T C SLCO1B1 Synonymous SNV C485C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 213002 chr5 82836460 82836460 C T rs144914004 VCAN Synonymous SNV D1559D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 11.43 213003 chr16 24580837 24580837 G C RBBP6 Synonymous SNV G908G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.754 213004 chr12 2777978 2777978 C T CACNA1C-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 8.683 213005 chr16 27720218 27720218 C T rs772590211 KIAA0556 Nonsynonymous SNV R528C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.4 213006 chr12 40076760 40076760 G A rs115122052 C12orf40 Nonsynonymous SNV C345Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 213007 chr12 40153961 40153961 A G rs781699032 SLC2A13 Nonsynonymous SNV I605T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 213008 chr12 6787383 6787383 A C ZNF384 Nonsynonymous SNV M144R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 213009 chr19 48733728 48733728 C - rs767035959 CARD8 L284Ffs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 213010 chr19 15795693 15795693 G A rs111563606 CYP4F12 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 213011 chr19 49868779 49868779 G A rs762517939 DKKL1 Nonsynonymous SNV R66Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 213012 chr16 31435274 31435274 C T rs369278071 ITGAD Nonsynonymous SNV R1053C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.2 213013 chr5 118865665 118865665 C T HSD17B4 Nonsynonymous SNV T597I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.867 213014 chr19 17062784 17062784 C T rs61741614 CPAMD8 Nonsynonymous SNV A835T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.37 213015 chr14 65209027 65209027 G A rs376872394 PLEKHG3 Nonsynonymous SNV R931H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 213016 chr14 71445196 71445196 G A rs370670970 PCNX1 Synonymous SNV K714K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.152 213017 chr12 51279033 51279033 C T rs372309874 TMPRSS12 Synonymous SNV N219N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.363 213018 chr12 11214167 11214167 G C rs768916818 TAS2R46 Nonsynonymous SNV L243V 0.004 0 0.01 0 5 0 0 3 0 0 0 0 0.021 213019 chr19 17945735 17945735 A T rs748216175 JAK3 Nonsynonymous SNV W709R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 no interpretation for the single variant 26.9 213020 chr14 74824995 74824995 C T rs150918316 VRTN Synonymous SNV P503P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.26 213021 chr14 75017876 75017876 C T rs142979965 LTBP2 Nonsynonymous SNV S526N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 213022 chr19 18870865 18870865 C T rs771043715 CRTC1 Nonsynonymous SNV A238V 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.8 213023 chr19 19014197 19014197 G A rs762046956 COPE Synonymous SNV F154F 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.19 213024 chr14 77493169 77493169 C T rs201058636 IRF2BPL Nonsynonymous SNV V323M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.5 213025 chr5 139941805 139941805 T C rs148789210 APBB3 Nonsynonymous SNV N169S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.07 213026 chr12 53045768 53045768 G A rs142748186 KRT2 Synonymous SNV F53F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.567 213027 chr12 53162666 53162666 C T rs764914258 KRT76 Nonsynonymous SNV S583N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 213028 chr11 108031865 108031865 G A rs769840727 NPAT Synonymous SNV C1323C 0 0 0 1 0 0 0.003 0 0 0 0 0 6.065 213029 chr6 52138117 52138117 T G MCM3 Synonymous SNV T248T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.84 213030 chr5 140348389 140348389 G T rs147800392 PCDHAC2 Nonsynonymous SNV V680L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.22 213031 chr12 54369102 54369102 C A rs146931383 HOXC11 Synonymous SNV R274R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.8 213032 chr5 140725753 140725753 G T rs759993278 PCDHGA3 Nonsynonymous SNV R718L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 213033 chr14 93814427 93814427 A G rs145148406 COX8C Synonymous SNV A60A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.106 213034 chr5 141019572 141019572 G T rs146298065 RELL2 Nonsynonymous SNV G197W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 213035 chr11 116707722 116707722 C T rs773584936 APOA1 Synonymous SNV Q65Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.37 213036 chr5 142258998 142258998 C T rs772422132 ARHGAP26 Synonymous SNV I124I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.85 213037 chr11 118133664 118133664 G A rs140274135 MPZL2 Synonymous SNV D69D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.84 213038 chr12 58145038 58145038 T G rs201202764 CDK4 Synonymous SNV T102T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.041 213039 chr12 62986500 62986500 G C rs185959477 MON2 Nonsynonymous SNV A1703P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 213040 chr5 149323955 149323955 C T rs150808864 PDE6A Nonsynonymous SNV M94I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21 213041 chr16 71660242 71660242 G A rs370821754 MARVELD3 Nonsynonymous SNV R37Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 213042 chr19 39789076 39789076 C T rs533783198 IFNL1 Nonsynonymous SNV R175C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 213043 chr12 659075 659075 C A B4GALNT3 Synonymous SNV R332R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.32 213044 chr19 40719465 40719465 C T rs199802354 MAP3K10 Nonsynonymous SNV P627S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.38 213045 chr12 51851181 51851181 C T SLC4A8 Synonymous SNV S207S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 213046 chr19 40886397 40886402 AGTTGG - rs772399266 HIPK4 S499_N500del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 213047 chr19 36940867 36940867 A G ZNF566 Nonsynonymous SNV L91P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.865 213048 chr12 6933105 6933105 G A rs782232955 GPR162 Nonsynonymous SNV R14H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 213049 chr16 75646154 75646154 C T ADAT1 Nonsynonymous SNV A257T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 34 213050 chr12 69651570 69651570 C T rs143908317 CPSF6 Synonymous SNV S193S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.054 213051 chr12 70049589 70049589 A G rs770850354 BEST3 Nonsynonymous SNV S156P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 213052 chr19 56423619 56423619 G A NLRP13 Nonsynonymous SNV L522F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.02 213053 chr5 153054068 153054068 G T GRIA1 Nonsynonymous SNV M156I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 213054 chr15 40824494 40824494 G A MRPL42P5 0 0 0 1 0 0 0.003 0 0 0 0 0 0.891 213055 chr12 96653547 96653547 C T ELK3 Synonymous SNV L23L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 213056 chr19 407259 407259 C T rs913368732 C2CD4C Nonsynonymous SNV R368H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 213057 chr19 44680636 44680636 A G rs528275612 ZNF226 Synonymous SNV Q407Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.648 213058 chr9 116151940 116151940 A G ALAD Nonsynonymous SNV F210S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 213059 chr13 103292680 103292680 A G rs141172767 TPP2 Synonymous SNV Q658Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.531 213060 chr11 17139126 17139126 C T rs760512361 PIK3C2A Nonsynonymous SNV R663K 0 0 0 2 0 0 0.005 0 0 0 0 0 26.2 213061 chr13 108862296 108862296 C T rs781701054 LIG4 Nonsynonymous SNV D441N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 213062 chr6 151277171 151277171 C T rs113806279 MTHFD1L Synonymous SNV I590I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.87 213063 chr19 42400517 42400517 G A ARHGEF1 Synonymous SNV A328A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.105 213064 chr11 17631457 17631457 C G OTOG Nonsynonymous SNV T1549S 0 0 0 2 0 0 0.005 0 0 0 0 0 5.459 213065 chr6 348879 348879 C A rs372511254 DUSP22 Synonymous SNV P182P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.644 213066 chr19 45445555 45445555 G T rs565473757 APOC4 Nonsynonymous SNV R7S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.226 213067 chr11 17631476 17631476 C T rs547273913 OTOG Synonymous SNV A1555A 0 0 0 2 0 0 0.005 0 0 0 0 0 12.47 213068 chr19 45448439 45448439 C T rs150368388 APOC4 Synonymous SNV D87D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.586 213069 chr19 45448593 45448593 C T rs112408231 APOC4-APOC2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.076 213070 chr19 45452596 45452596 C T rs7253690 APOC4-APOC2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.085 213071 chr13 20716729 20716729 G A rs754734137 GJA3 Synonymous SNV G233G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 2.06 213072 chr11 1862126 1862126 G A rs769598897 TNNI2 Synonymous SNV K88K 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Likely benign 7.273 213073 chr6 6305612 6305612 C T rs368614035 F13A1 Synonymous SNV R97R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16.71 213074 chr6 7229400 7229400 C T rs139799223 RREB1 Synonymous SNV D356D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.546 213075 chr13 32783048 32783048 C T rs146669548 FRY Synonymous SNV Y1359Y 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 11.19 213076 chr6 16327108 16327108 C A ATXN1 Synonymous SNV L478L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.36 213077 chr12 88483177 88483177 A G CEP290 Synonymous SNV L1221L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.611 213078 chr13 41341145 41341145 A T rs773065063 MRPS31 Stop gain Y59X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 213079 chr15 65275844 65275844 C T SPG21 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.4 213080 chr13 46559651 46559651 T C ZC3H13 Nonsynonymous SNV T501A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.691 213081 chr13 52390938 52390938 G A rs546214265 TMEM272 Synonymous SNV S105S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.102 213082 chr17 181376 181376 G C LOC100506388 0.001 0 0 0 1 0 0 0 0 0 0 0 3.793 213083 chr1 10384888 10384888 C T rs775697231 KIF1B Synonymous SNV S824S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.11 213084 chr13 79942971 79942973 ATG - rs772100087 RBM26 H263del 0 0 0.003 0 0 0 0 1 0 0 0 0 213085 chr15 76136088 76136088 C T rs368241686 UBE2Q2 Synonymous SNV V27V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.73 213086 chr12 110878160 110878160 T C rs544543037 ARPC3 Nonsynonymous SNV Y47C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 213087 chr6 36063795 36063795 C T rs115856784 MAPK14 Synonymous SNV L238L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.92 213088 chr9 139235365 139235365 C T rs375586873 GPSM1 Synonymous SNV N374N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 213089 chr6 36690081 36690081 A C rs548687311 RAB44 Nonsynonymous SNV T724P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.389 213090 chr15 79292109 79292109 G A rs773249592 RASGRF1 Nonsynonymous SNV R140W 0 0 0 2 0 0 0.005 0 0 0 0 0 34 213091 chr15 81589341 81589341 G A rs199946459 IL16 Nonsynonymous SNV G659S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 213092 chr1 111730284 111730284 T A rs113212069 DENND2D Synonymous SNV I450I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.29 213093 chr19 48846612 48846612 G A rs376912245 TMEM143 Nonsynonymous SNV R121C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 213094 chr17 2278921 2278921 G A rs1045523528 SGSM2 Nonsynonymous SNV D701N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 213095 chr6 39041524 39041524 C T rs145619754 GLP1R Nonsynonymous SNV L268F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.2 213096 chr6 41162204 41162204 G T rs115991880 TREML2 Nonsynonymous SNV S248R 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 11.01 213097 chr6 41652580 41652580 G A TFEB Synonymous SNV F311F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.5 213098 chr1 1139216 1139216 G A rs11466695 TNFRSF18 Nonsynonymous SNV R175C 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 12.67 213099 chr14 105405287 105405287 C T rs201885720 AHNAK2 Nonsynonymous SNV V5401M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 213100 chr6 43267398 43267398 C A SLC22A7 Stop gain Y177X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 213101 chr1 116227963 116227963 G T VANGL1 Nonsynonymous SNV A375S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 213102 chr6 43475244 43475244 C T rs140726394 LRRC73 Nonsynonymous SNV R277Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 213103 chr15 89074509 89074509 T A DET1 Nonsynonymous SNV E143V 0 0 0 2 0 0 0.005 0 0 0 0 0 28.9 213104 chr10 4872887 4872887 C T rs3750739 AKR1E2 Synonymous SNV T20T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.339 213105 chr15 90280958 90280958 G A rs770020621 WDR93 Nonsynonymous SNV R560Q 0 0 0 2 0 0 0.005 0 0 0 0 0 20.9 213106 chr15 90610914 90610914 T G rs201968429 ZNF710 Nonsynonymous SNV L182R 0 0 0 2 0 0 0.005 0 0 0 0 0 3.77 213107 chr6 55933899 55933899 G A rs371094018 COL21A1 Nonsynonymous SNV T77M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.242 213108 chr15 92459438 92459438 G A SLCO3A1 Synonymous SNV Q132Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.249 213109 chr6 65098652 65098652 G A rs934395477 EYS Synonymous SNV L2003L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.795 213110 chr7 45124931 45124931 T C NACAD Nonsynonymous SNV D283G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 213111 chr17 38510751 38510751 C T rs769064528 RARA Synonymous SNV I238I 0.003 0 0 0 4 0 0 0 0 0 0 0 15.57 213112 chr13 24798693 24798693 C T rs373414745 SPATA13 Synonymous SNV A542A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.71 213113 chr6 80196868 80196868 T C rs758336487 LCA5 Synonymous SNV Q649Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.001 213114 chr6 82924500 82924500 A T rs139790059 IBTK Nonsynonymous SNV F550I 0 0.005 0 1 0 2 0.003 0 0 1 0 0 17.51 213115 chr6 85446703 85446703 G A rs114400107 TBX18 Synonymous SNV F508F 0 0.005 0 0 0 2 0 0 0 1 0 0 0.154 213116 chr1 152882860 152882860 C T rs200916786 IVL Nonsynonymous SNV P196L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 213117 chr16 1397345 1397345 A G rs201328584 BAIAP3 Nonsynonymous SNV E897G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.3 213118 chr6 106978191 106978191 G A rs750465483 CRYBG1 0 0.005 0 0 0 2 0 0 0 1 0 0 26.1 213119 chr6 108246111 108246111 C T SEC63 Nonsynonymous SNV A84T 0 0.005 0 0 0 2 0 0 0 1 0 0 23.5 213120 chr13 46924361 46924361 C T RUBCNL Nonsynonymous SNV V271I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 213121 chr19 54823854 54823854 A G rs147188170 LILRA5 Nonsynonymous SNV V14A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.513 213122 chr6 114379059 114379059 C T rs767635603 HS3ST5 Nonsynonymous SNV G135S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 213123 chr14 62207617 62207617 T C HIF1A Nonsynonymous SNV F626L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.03 213124 chr14 64488037 64488037 T C rs73277546 SYNE2 Nonsynonymous SNV M1719T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.7 213125 chr6 117710966 117710966 G T ROS1 Nonsynonymous SNV L436I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.728 213126 chr6 123592320 123592320 G C TRDN Nonsynonymous SNV L562V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.494 213127 chr1 156902311 156902311 G A rs35745377 LRRC71 Nonsynonymous SNV V513M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.84 213128 chr14 68220462 68220462 C T rs193074768 ZFYVE26 Nonsynonymous SNV V2384I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.5 213129 chr19 6147676 6147676 C A rs74980839 ACSBG2 Nonsynonymous SNV S96Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.5 213130 chr19 6165902 6165902 G A rs74699889 ACSBG2 Nonsynonymous SNV R205K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 213131 chr19 6306883 6306883 T G ACER1 Nonsynonymous SNV I213L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29 213132 chr14 74764684 74764684 C T rs368694663 ABCD4 Nonsynonymous SNV R38Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 213133 chr19 7573180 7573180 G A rs753071531 TEX45 Nonsynonymous SNV G461D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.7 213134 chr1 160784531 160784532 AT - rs770956153 LY9 H351Rfs*22 0.001 0.005 0 0 1 2 0 0 0 0 0 0 213135 chr14 88693860 88693860 C G KCNK10 Synonymous SNV P175P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 213136 chr14 88729674 88729674 C T rs762757025 KCNK10 Nonsynonymous SNV G87S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 213137 chr13 113729351 113729351 G A rs552237695 MCF2L Nonsynonymous SNV E348K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 213138 chr14 88962812 88962812 T C rs373284429 PTPN21 Nonsynonymous SNV I293V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 213139 chr14 91444769 91444786 GCCTTTTGAACGATTGTT - rs781712449 RPS6KA5 T87_A92del 0 0 0.003 0 0 0 0 1 0 0 0 0 213140 chr6 152651704 152651704 C T rs374596074 SYNE1 Nonsynonymous SNV V4635I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.117 213141 chr10 73491873 73491873 A G rs149073355 CDH23 Nonsynonymous SNV N1282S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 213142 chr6 153332748 153332748 T C rs145201854 RGS17 Synonymous SNV S198S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.368 213143 chr6 153347650 153347650 C T RGS17 Nonsynonymous SNV E50K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 213144 chr6 154412320 154412320 G A rs11575856 OPRM1 Nonsynonymous SNV V193I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.92 213145 chr10 76788961 76788961 T C KAT6B Nonsynonymous SNV L679S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.1 213146 chr19 58198932 58198932 G A rs145553872 ZNF551 Nonsynonymous SNV C402Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 213147 chr1 165513806 165513806 G A LRRC52 Synonymous SNV E91E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.753 213148 chr14 95081228 95081228 G A rs45518239 SERPINA3 Synonymous SNV L150L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.46 213149 chr1 167847741 167847741 A G ADCY10 Nonsynonymous SNV M297T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 213150 chr19 58879912 58879912 G C rs546538188 ZNF837 Nonsynonymous SNV P263R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 213151 chr1 168059834 168059834 C G GPR161 Nonsynonymous SNV G313A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 213152 chr14 99640650 99640650 G T rs770818870 BCL11B Synonymous SNV R769R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.258 213153 chr11 608207 608207 G A rs200915859 PHRF1 Synonymous SNV T917T 0 0 0 4 0 0 0.01 0 0 0 0 0 7.867 213154 chr19 59022916 59022916 G A rs760586361 SLC27A5 Nonsynonymous SNV T136M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 213155 chr19 59074403 59074403 C A MZF1 Nonsynonymous SNV C414F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 213156 chr1 169566373 169566373 G A rs143011778 SELP Synonymous SNV L583L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.969 213157 chr1 169694935 169694935 G C rs201045157 SELE Nonsynonymous SNV Q595E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.719 213158 chr16 50263152 50263152 A T rs12932594 TENT4B Nonsynonymous SNV Q685H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 11.64 213159 chr10 93667983 93667983 G C FGFBP3 Synonymous SNV L248L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 213160 chr15 23086364 23086364 - GCCGCCGCCGCC NIPA1 A16_G17insAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 213161 chr16 50763760 50763760 G A NOD2 Nonsynonymous SNV A973T 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 24.8 213162 chr15 25959231 25959231 G C rs755990319 ATP10A Nonsynonymous SNV P645R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.183 213163 chr16 53493477 53493477 A G rs773726805 RBL2 Nonsynonymous SNV M432V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 213164 chr7 107217965 107217965 C A DUS4L Stop gain S305X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 41 213165 chr14 24784863 24784863 C T LTB4R Synonymous SNV N2N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.702 213166 chr19 7626447 7626447 G A PNPLA6 Synonymous SNV X1366X 0.001 0 0 0 1 0 0 0 0 0 0 0 8.855 213167 chr6 170871054 170871073 AGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAG TBP Q57Hfs*67 0 0.003 0 0 0 1 0 0 0 0 0 0 213168 chr10 99332616 99332618 AGG - ANKRD2 E54del 0.001 0 0 0 1 0 0 0 0 0 0 0 213169 chr7 120739989 120739989 G A rs755414515 CPED1 Synonymous SNV T253T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.845 213170 chr16 58231553 58231553 G A CSNK2A2 Nonsynonymous SNV H30Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.971 213171 chr7 994090 994090 C T rs572300633 ADAP1 Synonymous SNV A8A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.6 213172 chr1 10166467 10166467 C T rs201736832 UBE4B Nonsynonymous SNV S341F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.5 213173 chr15 41772483 41772483 C T rs143609385 RTF1 Synonymous SNV H662H 0 0 0.007 0 0 0 0 2 0 0 0 0 16.76 213174 chr7 2752314 2752314 C T rs142567005 AMZ1 Synonymous SNV A433A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 213175 chr7 2802318 2802318 C T rs564992122 GNA12 Nonsynonymous SNV V69I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.12 213176 chr19 8923292 8923292 C A ZNF558 Nonsynonymous SNV W53L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 213177 chr16 68609741 68609741 G A rs540108817 ZFP90 Nonsynonymous SNV E102K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 4.559 213178 chr15 42158013 42158013 G A rs201316387 SPTBN5 Nonsynonymous SNV S2304L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.192 213179 chr7 5402433 5402433 G C rs200218517 TNRC18 Nonsynonymous SNV R1415G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 213180 chr17 7130843 7130843 G A rs756683592 DVL2 Nonsynonymous SNV R415W 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.1 213181 chr16 70299514 70299514 G C AARS1 Nonsynonymous SNV T425S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.4 213182 chr15 43821004 43821004 C T rs199715888 MAP1A Nonsynonymous SNV R2445C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.202 213183 chr15 44864966 44864966 C A rs150761878 SPG11 Synonymous SNV L1973L 0.01 0 0.014 1 12 0 0.003 4 1 0 0 0 Conflicting interpretations of pathogenicity 14.03 213184 chr16 71768527 71768527 A T AP1G1 Synonymous SNV V784V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.463 213185 chr7 6566268 6566268 C T rs147492629 GRID2IP Synonymous SNV P239P 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 213186 chr7 6621269 6621269 A C rs149388883 ZDHHC4 Nonsynonymous SNV Q50P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 213187 chr11 6554938 6554938 G A rs75962111 DNHD1 Nonsynonymous SNV E845K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.162 213188 chr14 55227121 55227121 G A SAMD4A Synonymous SNV P64P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.89 213189 chr14 55647397 55647397 T A rs762782971 DLGAP5 Nonsynonymous SNV K227M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 213190 chr15 49030841 49030841 T C rs200883218 CEP152 Nonsynonymous SNV T1524A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 8.847 213191 chr7 139107009 139107009 A C rs202072515 FMC1-LUC7L2, LUC7L2 Nonsynonymous SNV K368Q 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 13.01 213192 chr19 9048619 9048619 T G MUC16 Synonymous SNV P11004P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.827 213193 chr1 114682292 114682292 T A rs371783276 SYT6 Nonsynonymous SNV I153F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 213194 chr15 57524934 57524934 C A TCF12 Nonsynonymous SNV P48T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 213195 chr14 64491722 64491722 T C rs746460737 SYNE2 Nonsynonymous SNV L1978P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 213196 chr19 9076992 9076992 G A rs200594255 MUC16 Nonsynonymous SNV A3485V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.75 213197 chr11 6816484 6816493 GCCAGCAGCC - rs555709554 OR6A2 M149Ifs*62 0.003 0 0 2 3 0 0.005 0 0 0 0 0 213198 chr16 84215809 84215809 C G TAF1C Synonymous SNV L240L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 7.75 213199 chr15 63618512 63618512 G T rs770395993 CA12 Nonsynonymous SNV T275N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.551 213200 chr11 6913540 6913540 G T rs16919417 OR2D2 Stop gain C64X 0.004 0 0 2 5 0 0.005 0 0 0 0 0 35 213201 chr7 148947360 148947360 G A rs370659338 ZNF212 Synonymous SNV V45V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.552 213202 chr11 694950 694979 GCCGCGGCCGCGGCCGCCGCCGCCACAGCG - rs766934551 DEAF1 A24_A33del 0 0 0 2 0 0 0.005 0 0 0 0 0 213203 chr7 30655643 30655643 G A rs17159287 GARS1 Nonsynonymous SNV R334Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.2 213204 chr1 201824279 201824287 AGAAGAAGT - IPO9 E315_E317del 0 0.003 0 0 0 1 0 0 0 0 0 0 213205 chr15 65871844 65871844 T G INTS14 Nonsynonymous SNV K408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 213206 chr14 74420249 74420249 C T rs751153273 COQ6 Nonsynonymous SNV P92L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 213207 chr1 203152825 203152825 G C CHI3L1 Nonsynonymous SNV L137V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.56 213208 chr1 100964715 100964715 C T CDC14A Nonsynonymous SNV P258L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.726 213209 chr11 73078743 73078743 G A rs146397383 ARHGEF17 Nonsynonymous SNV R2037Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 34 213210 chr17 79857235 79857235 G A ANAPC11 Nonsynonymous SNV G76E 0.002 0 0 0 2 0 0 0 0 0 0 0 19.31 213211 chr7 47342844 47342844 G T rs61731307 TNS3 Nonsynonymous SNV P1054Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.2 213212 chr17 8053868 8053868 T C PER1 Nonsynonymous SNV S53G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 213213 chr7 48352801 48352801 C G rs199891674 ABCA13 Synonymous SNV A3218A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.825 213214 chr14 94423181 94423181 G A rs771189408 ASB2 Nonsynonymous SNV A33V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.559 213215 chr1 213009450 213009450 A G rs776964369 SPATA45 Synonymous SNV H14H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.102 213216 chr17 9737205 9737205 C A rs116054562 GLP2R Nonsynonymous SNV P91T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 213217 chr17 15930734 15930734 A G rs77955179 TTC19 Synonymous SNV Q240Q 0.001 0.003 0.003 4 1 1 0.01 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.651 213218 chr1 22181877 22181877 C T rs145332480 HSPG2 Nonsynonymous SNV V1974I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.72 213219 chr15 89868870 89868870 G A rs113994096 POLG Nonsynonymous SNV P587L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 213220 chr15 89873415 89873415 G A rs113994094 POLG Nonsynonymous SNV T251I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.183 213221 chr7 73011061 73011061 G A rs377179780 MLXIPL Nonsynonymous SNV P577L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.33 213222 chr7 75614228 75614228 G A rs372401863 POR Synonymous SNV S400S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 11.81 213223 chr17 17399317 17399317 A C RASD1 Nonsynonymous SNV F60C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.1 213224 chr1 224463074 224463074 C T rs150509891 NVL Synonymous SNV V494V 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 15.74 213225 chr17 18077138 18077138 G A rs199783506 MYO15A Nonsynonymous SNV R3465Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 213226 chr7 77789571 77789571 G A rs148005928 MAGI2 Synonymous SNV N858N 0 0.005 0.007 0 0 2 0 2 0 0 0 0 Likely benign 9.76 213227 chr17 18148508 18148508 G A rs149231616 FLII Nonsynonymous SNV H1197Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.92 213228 chr7 81588616 81588616 T G rs35131433 CACNA2D1 Nonsynonymous SNV D1045A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 22.2 213229 chr15 91456937 91456937 C T rs748558808 MAN2A2 Nonsynonymous SNV L938F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 213230 chr1 158299390 158299390 C A CD1B Nonsynonymous SNV R219L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 213231 chr7 82584574 82584574 G T rs61995911 PCLO Nonsynonymous SNV Q1899K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.724 213232 chr7 86823385 86823385 A C rs778376750 DMTF1 Synonymous SNV S577S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.037 213233 chr7 92732560 92732560 A G rs959103332 SAMD9 Nonsynonymous SNV W951R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.49 213234 chr7 94935622 94935622 G C rs771025483 PON1 Nonsynonymous SNV A252G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 213235 chr1 231673057 231673057 C T TSNAX Nonsynonymous SNV L74F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 213236 chr7 96810485 96810485 T C rs10266441 SDHAF3 Synonymous SNV N112N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.112 213237 chr1 2340175 2340175 G A rs140340426 PEX10 Synonymous SNV L106L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.357 213238 chr11 1282710 1282710 A G MUC5B Nonsynonymous SNV N5721D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.391 213239 chr15 40703547 40703547 A G rs761815406 IVD Nonsynonymous SNV K152R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.697 213240 chr1 167095876 167095876 A C DUSP27 Nonsynonymous SNV E503A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.2 213241 chr17 33880260 33880260 T C SLFN14 Nonsynonymous SNV S465G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.61 213242 chr17 3417930 3417930 G A rs746226070 TRPV3 Synonymous SNV H745H 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 10.23 213243 chr16 23555868 23555868 T C rs768159115 EARS2 Nonsynonymous SNV K151R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.425 213244 chr16 25043225 25043225 T G rs571485004 LOC554206 0 0 0.01 0 0 0 0 3 0 0 0 0 6.107 213245 chr15 42436828 42436828 G A rs753127554 PLA2G4F Nonsynonymous SNV P599S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.307 213246 chr12 123466293 123466301 GAAGAAGAA - rs770718015 ARL6IP4 K291_K293del 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 213247 chr16 30958185 30958185 G A rs770828332 FBXL19 Nonsynonymous SNV A608T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 213248 chr7 106826333 106826333 A G rs140559709 HBP1 Synonymous SNV E172E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.12 213249 chr7 106830715 106830715 C T rs777440206 HBP1 Synonymous SNV P350P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.43 213250 chr16 3335217 3335217 C A ZNF263 Nonsynonymous SNV D182E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 213251 chr12 128899368 128899368 G T rs371034880 TMEM132C Nonsynonymous SNV E59D 0 0 0 3 0 0 0.008 0 0 0 0 0 0.005 213252 chr7 111555931 111555931 G A rs189759510 DOCK4 Synonymous SNV H365H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.079 213253 chr16 3535427 3535427 G A rs766364207 MIR6126 0 0 0.003 0 0 0 0 1 0 0 0 0 2.69 213254 chr16 3641159 3641161 TCT - SLX4 E829del 0 0 0.003 0 0 0 0 1 0 0 0 0 213255 chr17 39643637 39643637 G A rs753905566 KRT36 Nonsynonymous SNV A318V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 213256 chr17 39661562 39661585 AGCCACCTCCAAGGCCACCTCCAT - rs757809964 KRT13 Y73_G80del 0 0 0 1 0 0 0.003 0 0 0 0 0 213257 chr15 55742461 55742461 G A DNAAF4 Nonsynonymous SNV P248S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 213258 chr1 28919250 28919250 G A RAB42 Nonsynonymous SNV R76H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 213259 chr8 140998972 140998972 G A rs143221169 TRAPPC9 Synonymous SNV S915S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.668 213260 chr7 134701835 134701835 A T rs532283322 AGBL3 Nonsynonymous SNV I115F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 213261 chr8 142228260 142228260 C T rs144295839 SLC45A4 Synonymous SNV T442T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.02 213262 chr1 32151872 32151872 G A COL16A1 Synonymous SNV F604F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.376 213263 chr7 138593815 138593815 C A rs371131658 KIAA1549 Nonsynonymous SNV Q1066H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 213264 chr15 69331230 69331230 T C NOX5 Nonsynonymous SNV F441L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 213265 chr11 8933180 8933180 C G rs780474064 AKIP1 Nonsynonymous SNV Q62E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 213266 chr1 33236352 33236352 G A rs760020660 KIAA1522 Synonymous SNV K465K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.726 213267 chr1 33413954 33413954 C T RNF19B Synonymous SNV K284K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.89 213268 chr7 139416757 139416757 C T HIPK2 Nonsynonymous SNV C26Y 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 213269 chr17 46685286 46685286 T C rs143679393 HOXB7 Nonsynonymous SNV K191R 0.008 0 0 2 9 0 0.005 0 2 0 0 0 27.2 213270 chr8 144696545 144696545 G A rs367984069 TSTA3 Synonymous SNV N187N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.81 213271 chr8 144919284 144919284 A G rs56010327 NRBP2 Nonsynonymous SNV L397P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.1 213272 chr17 4837131 4837131 C T rs139921368 GP1BA Nonsynonymous SNV P411L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 17.47 213273 chr16 75575269 75575269 C T rs369010440 TMEM231 Nonsynonymous SNV R303Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.9 213274 chr8 145060230 145060230 C T PARP10 Synonymous SNV E70E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 213275 chr8 145512854 145512854 G A rs199763488 BOP1 Synonymous SNV G77G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.414 213276 chr17 54672097 54672097 C A NOG Synonymous SNV R171R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.66 213277 chr1 43296531 43296531 C G rs56136737 ERMAP Nonsynonymous SNV P60A 0 0.003 0 0 0 1 0 0 0 0 0 0 Affects 0.002 213278 chr17 56233201 56233201 G A rs199957444 OR4D1 Synonymous SNV S229S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.38 213279 chr17 56389848 56389848 C T TSPOAP1 Synonymous SNV L718L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.283 213280 chr1 45279360 45279360 T C rs950175962 BTBD19 Synonymous SNV D264D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.122 213281 chr1 186375303 186375303 C T rs201881790 ODR4 Synonymous SNV D340D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 213282 chr1 46978062 46978062 C T rs767530969 DMBX1 Nonsynonymous SNV P349S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.75 213283 chr1 47717101 47717101 C T rs369376550 STIL Nonsynonymous SNV D1192N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.2 213284 chr7 157926543 157926543 G T PTPRN2 Nonsynonymous SNV P423Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.53 213285 chr12 49391033 49391033 C G rs776349438 DDN Nonsynonymous SNV E542D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 213286 chr12 50232439 50232439 T C rs12311266 BCDIN3D Synonymous SNV Q198Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.44 213287 chr12 50745673 50745673 C T rs74090112 FAM186A Nonsynonymous SNV G1648R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.2 213288 chr11 47315495 47315495 C G rs780671093 MADD Nonsynonymous SNV I1078M 0.002 0 0 0 2 0 0 0 0 0 0 0 19.09 213289 chr17 6428727 6428727 T C PITPNM3 Nonsynonymous SNV N59D 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 213290 chr8 6668825 6668825 C G rs746041075 XKR5 Nonsynonymous SNV R652T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.477 213291 chr15 90801385 90801385 C T rs371974190 TTLL13P 0.001 0 0 0 1 0 0 0 0 0 0 0 26 213292 chr12 52180505 52180505 T A rs115623439 SCN8A Synonymous SNV T1333T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 10.9 213293 chr15 91433630 91433630 G C FES 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 213294 chr1 202287441 202287441 C T rs201566149 LGR6 Synonymous SNV S531S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 213295 chr12 53086242 53086242 C T rs903879117 KRT77 Nonsynonymous SNV A464T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 213296 chr8 17872215 17872215 C T rs201237416 PCM1 Nonsynonymous SNV P1840S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.37 213297 chr17 7127503 7127503 A G rs150518187 ACADVL Synonymous SNV L469L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.237 213298 chr8 21998188 21998188 G A REEP4 Nonsynonymous SNV P19S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 213299 chr8 22054265 22054265 C G rs374904129 BMP1 Nonsynonymous SNV P613R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 213300 chr17 72368231 72368231 A G rs777620765 GPR142 Nonsynonymous SNV Y206C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 18.38 213301 chr17 18023221 18023221 T C MYO15A Synonymous SNV F369F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 213302 chr9 88203291 88203291 G A rs771158224 AGTPBP1 Nonsynonymous SNV P994L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 213303 chr1 78430421 78430421 T C rs146668201 FUBP1 Synonymous SNV E249E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.476 213304 chr17 73751928 73751928 G A rs201832426 ITGB4 Nonsynonymous SNV G1552S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 213305 chr17 74068422 74068422 T G rs776550722 SRP68 Nonsynonymous SNV N51H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.92 213306 chr9 96859988 96859988 G A rs757301660 PTPDC1 Synonymous SNV E380E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.034 213307 chr17 74477576 74477576 C T rs142019309 RHBDF2 Nonsynonymous SNV V11M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 15.04 213308 chr17 76120716 76120716 G A TMC6 Synonymous SNV A260A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 10.7 213309 chr17 2323426 2323426 T C METTL16 Synonymous SNV G509G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 213310 chr9 101980983 101980983 T C rs529195050 ALG2 Nonsynonymous SNV I162V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 213311 chr16 2138097 2138097 G A rs45517392 TSC2 Nonsynonymous SNV R1462H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 213312 chr17 76497256 76497256 C T rs371766441 DNAH17-AS1 0 0.003 0 3 0 1 0.008 0 0 0 0 0 8.839 213313 chr8 41355114 41355114 C T rs768390042 GOLGA7 Synonymous SNV L66L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.32 213314 chr1 89732756 89732756 G A rs764655996 GBP5 Nonsynonymous SNV A170V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.046 213315 chr8 61655235 61655235 C T rs765180149 CHD7 Nonsynonymous SNV P415L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 213316 chr12 69653841 69653841 A G rs768434947 CPSF6 Nonsynonymous SNV I445V 0 0 0 4 0 0 0.01 0 0 0 0 0 27.3 213317 chr1 224420918 224420918 T C rs751246154 NVL Nonsynonymous SNV S625G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 213318 chr1 93730416 93730416 G A rs150053356 CCDC18 Synonymous SNV R1280R 0.006 0.01 0 3 7 4 0.008 0 1 0 0 0 9.774 213319 chr1 94514466 94514466 T C rs61754030 ABCA4 Nonsynonymous SNV T901A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.516 213320 chr17 38191976 38191976 T G MED24 Nonsynonymous SNV S96R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 213321 chr16 11836502 11836502 C T TXNDC11 Nonsynonymous SNV G29S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 213322 chr8 101153233 101153233 T C FBXO43 Nonsynonymous SNV I417V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 213323 chr17 79781349 79781349 C T MCRIP1 Synonymous SNV P56P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.532 213324 chr1 229606376 229606376 T G NUP133 Nonsynonymous SNV E676A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 213325 chr8 103840806 103840806 C T rs142723729 AZIN1 Nonsynonymous SNV R363H 0 0.005 0 0 0 2 0 0 0 0 0 0 10.68 213326 chr8 106811144 106811144 G A rs367565378 ZFPM2 Nonsynonymous SNV R258Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.1 213327 chr16 20352528 20352528 C T UMOD Nonsynonymous SNV G488S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 213328 chr8 110257638 110257638 G A rs758416339 NUDCD1 Nonsynonymous SNV R429C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 213329 chr1 233120143 233120143 C T rs142053669 PCNX2 Synonymous SNV A2107A 0.003 0 0 3 3 0 0.008 0 0 0 0 0 12.7 213330 chr16 22269906 22269906 G A rs149639518 EEF2K Nonsynonymous SNV R374H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.23 213331 chr9 130494372 130494372 G T rs200194338 TOR2A Nonsynonymous SNV Q141K 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 10.66 213332 chr9 132632743 132632743 C T USP20 Nonsynonymous SNV S526F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 213333 chr16 31368593 31368593 A G rs768196583 ITGAX Nonsynonymous SNV H113R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 213334 chr1 36367665 36367665 C T rs61751003 AGO1 Synonymous SNV G344G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 15.82 213335 chr18 24496913 24496913 G C rs182429803 CHST9 Nonsynonymous SNV I214M 0 0 0 1 0 0 0.003 0 0 0 0 0 21 213336 chr17 43013482 43013482 G A rs780348089 KIF18B Synonymous SNV G77G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.51 213337 chr20 31331127 31331127 T C rs996639002 COMMD7 Nonsynonymous SNV Q24R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.298 213338 chr17 4389759 4389759 G A rs61734113 SPNS3 Nonsynonymous SNV R317H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 213339 chr17 4462172 4462172 G A rs759310671 GGT6 Nonsynonymous SNV T175M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.646 213340 chr18 28906935 28906935 T G rs1030004076 DSG1 Synonymous SNV G61G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.02 213341 chr20 31676788 31676788 G A rs759638197 BPIFB4 Nonsynonymous SNV V315M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 213342 chr8 144661982 144661982 C T rs199856046 EEF1D Nonsynonymous SNV A252T 0 0.003 0 0 0 1 0 0 0 0 0 0 35 213343 chr16 57937855 57937855 C T CNGB1 Nonsynonymous SNV G883R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 213344 chr17 48193069 48193069 G A rs558407619 SAMD14 Synonymous SNV S227S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 213345 chr17 5284712 5284712 A C RABEP1 Nonsynonymous SNV E767A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 213346 chr17 5317360 5317360 C T rs147120363 NUP88 Nonsynonymous SNV V188I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 213347 chr20 42973977 42973977 C A rs202187624 R3HDML Synonymous SNV T196T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.78 213348 chr20 43995628 43995628 C T rs199934485 SYS1 Nonsynonymous SNV S115L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.7 213349 chr1 2491365 2491365 C T rs35239228 TNFRSF14 Synonymous SNV A136A 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 13.03 213350 chr20 44166725 44166725 G A rs779708595 EPPIN-WFDC6, WFDC6 Nonsynonymous SNV P34S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23 213351 chr20 44313588 44313588 A G rs770783372 WFDC10B Nonsynonymous SNV C51R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.8 213352 chr1 53542898 53542898 C T rs140508016 PODN Synonymous SNV A206A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 213353 chr13 52603016 52603016 C G UTP14C Nonsynonymous SNV P26A 0.002 0.003 0 7 2 1 0.018 0 0 0 0 0 1.985 213354 chr16 75238185 75238185 G A rs1049293 CTRB2 Synonymous SNV D222D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.143 213355 chr19 49217810 49217810 T G MAMSTR Nonsynonymous SNV E76A 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 213356 chr13 70681733 70681733 C T rs139358653 KLHL1 Synonymous SNV A33A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 17.06 213357 chr20 47592621 47592621 G A rs372837655 ARFGEF2 Nonsynonymous SNV V615M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22 213358 chr18 63489459 63489459 C T rs763088891 CDH7 Synonymous SNV N256N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.06 213359 chr17 6606342 6606342 G A rs373831482 SLC13A5 Synonymous SNV T178T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.903 213360 chr16 78466400 78466400 C T rs62034095 WWOX Synonymous SNV N156N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.755 213361 chr18 72343513 72343513 G A ZNF407 Nonsynonymous SNV G180R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.269 213362 chr19 50200647 50200647 T A CPT1C Nonsynonymous SNV I69N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 213363 chr16 83999075 83999075 C T rs777634739 OSGIN1 Synonymous SNV D299D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.396 213364 chr1 34035101 34035101 G A rs369231734 CSMD2 Synonymous SNV I2668I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 213365 chr19 50796843 50796843 C T rs778870714 MYH14 Nonsynonymous SNV R1749C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 213366 chr17 72860400 72860400 G A rs201450571 FDXR Nonsynonymous SNV A251V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.689 213367 chr19 50982291 50982291 C G EMC10 Nonsynonymous SNV Q89E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.16 213368 chr18 9256270 9256270 A T rs148882716 ANKRD12 Nonsynonymous SNV E979V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 213369 chr1 36227664 36227664 T C rs201324914 CLSPN Nonsynonymous SNV K277R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 213370 chr17 74133813 74133813 G A rs767267314 FOXJ1 Nonsynonymous SNV P296L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.47 213371 chr19 10406110 10406110 C G rs576101932 ICAM5 Synonymous SNV A773A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.24 213372 chr1 41485924 41485924 C T rs745463377 SLFNL1 Nonsynonymous SNV A137T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 213373 chr19 10671025 10671025 C T rs749049348 KRI1 Nonsynonymous SNV E255K 0 0 0 2 0 0 0.005 0 0 0 0 0 17.67 213374 chr19 11107199 11107199 T G rs141806282 SMARCA4 Synonymous SNV P597P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.006 213375 chr17 76567774 76567774 T C DNAH17 Synonymous SNV K210K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.629 213376 chr17 76993623 76993623 G A CANT1 Synonymous SNV L28L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.687 213377 chr17 76993624 76993624 C T CANT1 Synonymous SNV V27V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 213378 chr19 11658685 11658685 G C rs897098617 CNN1 Nonsynonymous SNV G155A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.025 213379 chr1 899906 899906 C A KLHL17 Nonsynonymous SNV R566S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 213380 chr19 1388862 1388862 C T rs140236960 NDUFS7 Synonymous SNV A51A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.54 213381 chr19 14185524 14185524 C G MISP3 Nonsynonymous SNV R217G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 213382 chr17 78360211 78360211 C T rs141825791 RNF213 Nonsynonymous SNV L4901F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.864 213383 chr21 33719499 33719499 G T URB1 Nonsynonymous SNV P1212T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.011 213384 chr21 34099201 34099201 C T rs61750221 SYNJ1 Synonymous SNV A2A 0.005 0.005 0.003 2 6 2 0.005 1 0 0 0 0 Benign/Likely benign 21.6 213385 chr1 55223480 55223480 T G PARS2 Nonsynonymous SNV Q452P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 213386 chr17 3649144 3649144 C T rs147122172 ITGAE Nonsynonymous SNV V745I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.725 213387 chr1 55337283 55337283 C T rs150688144 DHCR24 Nonsynonymous SNV E206K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 33 213388 chr20 1229307 1229307 G A RAD21L1 Nonsynonymous SNV R481K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.14 213389 chr1 55680715 55680715 G C USP24 Synonymous SNV R24R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.266 213390 chr14 36278001 36278001 G C RALGAPA1 Nonsynonymous SNV T14S 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 213391 chr19 56104915 56104915 C T FIZ1 Nonsynonymous SNV R131H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 213392 chr20 16348157 16348157 G C rs569115408 KIF16B Nonsynonymous SNV N1271K 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 23.5 213393 chr19 17373373 17373373 C T rs140894327 USHBP1 Synonymous SNV T146T 0 0 0 2 0 0 0.005 0 0 0 0 0 18.3 213394 chr14 51223604 51223604 G C rs546908598 NIN Nonsynonymous SNV H1382D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.04 213395 chr9 123902994 123902994 C T rs149200288 CNTRL Nonsynonymous SNV R253C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 213396 chr9 123927360 123927360 A G rs577129978 CNTRL Nonsynonymous SNV M1303V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 213397 chr18 12802017 12802017 G A rs781301782 PTPN2 Nonsynonymous SNV T302I 0 0 0.003 0 0 0 0 1 0 0 0 0 13 213398 chr1 64643794 64643794 C A rs41302752 ROR1 Synonymous SNV L690L 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Benign 12.43 213399 chr19 57286862 57286862 C T ZIM2 Nonsynonymous SNV G260S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 213400 chr10 73442216 73442216 C T rs374592204 CDH23 Nonsynonymous SNV R625C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 213401 chr9 127620225 127620225 G A rs200698441 RPL35 Nonsynonymous SNV P115L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.2 213402 chr14 60574431 60574431 T C rs760696911 PCNX4 Synonymous SNV L25L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.19 213403 chr9 129870888 129870888 T C rs146592226 ANGPTL2 Synonymous SNV L41L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.188 213404 chr20 31022441 31022441 - G rs1085307856 ASXL1 Frameshift insertion G585Wfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 213405 chr9 131600410 131600410 T C rs201161036 KYAT1 Nonsynonymous SNV I70V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.24 213406 chr18 48992082 48992082 G A LINC01630 0 0 0.003 0 0 0 0 1 0 0 0 0 1.955 213407 chr20 33447420 33447420 C T rs145115064 GGT7 Synonymous SNV L280L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 14.89 213408 chr19 6916272 6916272 A C rs200225003 ADGRE1 Nonsynonymous SNV K297T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.38 213409 chr19 7518454 7518454 C T rs775331752 ARHGEF18 Nonsynonymous SNV R411C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 213410 chr18 56278946 56278946 G A rs542206246 ALPK2 Synonymous SNV D28D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.835 213411 chr17 15983756 15983756 C A NCOR1 Synonymous SNV L1138L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 213412 chr19 35500843 35500843 A G rs763212765 GRAMD1A Nonsynonymous SNV S91G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 213413 chr10 98762108 98762108 G A rs146064836 SLIT1 Synonymous SNV C1391C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.342 213414 chr9 138719310 138719310 T C rs778327922 CAMSAP1 Nonsynonymous SNV Q389R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 213415 chr18 7049180 7049180 C T rs112194576 LAMA1 Nonsynonymous SNV R222Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 213416 chr17 20013828 20013828 C T rs199761506 SPECC1 Nonsynonymous SNV A79V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.89 213417 chr18 73139512 73139512 G T SMIM21 Nonsynonymous SNV Q3K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 213418 chr18 74091823 74091823 C T rs373241338 ZNF516 Synonymous SNV T749T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.706 213419 chr20 17410120 17410120 A G rs201915698 PCSK2 Nonsynonymous SNV N186D 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 213420 chr9 139749229 139749229 C T rs141677206 MAMDC4 Nonsynonymous SNV S317F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 213421 chr9 139753287 139753287 G A MAMDC4 Nonsynonymous SNV G980S 0 0.003 0 0 0 1 0 0 0 0 0 0 29 213422 chr22 31010428 31010428 A G TCN2 Nonsynonymous SNV S174G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 213423 chr9 139811058 139811058 C T rs149686627 TRAF2 Synonymous SNV C223C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 213424 chr9 139848190 139848190 C T rs200380938 LCN12 Nonsynonymous SNV P97L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 213425 chr18 76757250 76757250 G A rs771134798 SALL3 Synonymous SNV A1277A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.341 213426 chr19 3747890 3747890 C T rs10409928 TJP3 Synonymous SNV Y807Y 0 0 0.003 2 0 0 0.005 1 0 0 0 0 7.251 213427 chr19 3747910 3747910 G A rs10408494 TJP3 Nonsynonymous SNV G814D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 22 213428 chr19 1004669 1004669 G A rs760582633 GRIN3B Nonsynonymous SNV R390Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 213429 chr19 37677998 37677998 T C ZNF585B Synonymous SNV V147V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.014 213430 chr19 10206985 10206985 G C ANGPTL6 Synonymous SNV A85A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 213431 chr12 46246525 46246525 C A rs755116095 ARID2 Nonsynonymous SNV T1540K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.8 213432 chr12 46322541 46322541 C T rs919856916 SCAF11 Nonsynonymous SNV A315T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 213433 chr22 38246036 38246036 C T rs370497114 EIF3L Synonymous SNV P16P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.77 213434 chr19 40030635 40030635 G T rs769953956 EID2 Nonsynonymous SNV R29S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.3 213435 chr19 11508192 11508192 G A rs111956126 RGL3 Stop gain Q610X 0.002 0 0.007 0 2 0 0 2 0 0 0 0 36 213436 chr19 41009956 41009956 C T rs372472584 SPTBN4 Nonsynonymous SNV R528W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 213437 chr22 40804309 40804309 C T rs760678093 SGSM3 Nonsynonymous SNV T486M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 31 213438 chr10 123988897 123988897 C T TACC2 Nonsynonymous SNV L723F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 213439 chr19 12256707 12256707 C T rs748474291 ZNF625 Nonsynonymous SNV R175H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 213440 chr19 41622363 41622363 A G rs772249109 CYP2F1 Nonsynonymous SNV S59G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.12 213441 chr19 12903285 12903285 C T JUNB Nonsynonymous SNV R234C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 213442 chr20 33068948 33068948 A G ITCH Nonsynonymous SNV H567R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 213443 chr19 41838037 41838037 C G rs199699574 TGFB1 Nonsynonymous SNV S337T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 17.35 213444 chr19 1401412 1401412 C T rs886054248 GAMT Nonsynonymous SNV A22T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22 213445 chr19 1453475 1453475 C T rs1019108407 APC2 Nonsynonymous SNV P93L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 213446 chr10 129535797 129535797 C A rs931720720 FOXI2 Nonsynonymous SNV A87D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 213447 chr19 42342040 42342040 C T rs375253640 LYPD4 Synonymous SNV T134T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.76 213448 chr19 42847687 42847687 C T rs375943387 MEGF8 Synonymous SNV S524S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.8 213449 chr19 42910512 42910512 C T rs371435924 LIPE Synonymous SNV A722A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.3 213450 chr10 24832738 24832738 C T rs79368580 KIAA1217 Synonymous SNV T1513T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 213451 chr19 43965988 43965988 C T LYPD3 Nonsynonymous SNV V186M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 213452 chr19 44117682 44117682 C T rs138622320 SRRM5 Nonsynonymous SNV A470V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.471 213453 chr20 39983351 39983351 C T rs140359632 LPIN3 Stop gain R533X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 213454 chr21 27136615 27136615 G A rs147015240 GABPA Synonymous SNV A299A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.08 213455 chr10 46159095 46159095 T C ZFAND4 Nonsynonymous SNV T27A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.76 213456 chr17 39925282 39925282 G A JUP Nonsynonymous SNV R216W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 213457 chr19 17767037 17767037 T C UNC13A Nonsynonymous SNV D313G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 213458 chr19 17836696 17836696 C T MAP1S Nonsynonymous SNV T142I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 213459 chr17 40939342 40939342 G A rs55997156 WNK4 Nonsynonymous SNV R172H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.4 213460 chr19 18288524 18288524 C G IFI30 Nonsynonymous SNV P214A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 213461 chr10 50019605 50019605 C T WDFY4 Nonsynonymous SNV P1689L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.08 213462 chr22 50901081 50901081 C T rs139798340 SBF1 Synonymous SNV T679T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.96 213463 chr20 51871502 51871502 G A rs45479792 TSHZ2 Nonsynonymous SNV R499K 0.004 0.008 0.007 3 5 3 0.008 2 0 0 0 0 14.66 213464 chr19 45445586 45445586 G A rs13306210 APOC4 Nonsynonymous SNV V18M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.5 213465 chr17 41926088 41926088 A G rs761264036 CD300LG Nonsynonymous SNV E69G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.672 213466 chr21 42770917 42770917 G A rs762150617 MX2 Nonsynonymous SNV E415K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 213467 chr19 45916814 45916814 G A rs141876321 ERCC1 Nonsynonymous SNV R298C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.522 213468 chr19 19753406 19753406 G A rs766858799 GMIP Synonymous SNV G14G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 213469 chr1 150525527 150525527 C T rs147688134 ADAMTSL4 Nonsynonymous SNV L78F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 14.06 213470 chr1 150973020 150973020 G A rs772928955 MINDY1 Synonymous SNV G74G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.04 213471 chr15 63880383 63880383 - A rs538834963 USP3-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 213472 chr20 60791821 60791821 G A HRH3 Synonymous SNV F193F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.788 213473 chr19 24309561 24309561 T C rs73021451 ZNF254 Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.72 213474 chr19 2732974 2732974 G A rs770734927 SLC39A3 Synonymous SNV I240I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.193 213475 chr20 60902643 60902643 C T rs373128149 LAMA5 Nonsynonymous SNV R1627H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 213476 chr12 88512440 88512440 T C CEP290 Nonsynonymous SNV N535D 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.4 213477 chr19 48965559 48965559 A G rs761242323 KCNJ14 Nonsynonymous SNV K193R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 213478 chr12 91552083 91552083 C T DCN Nonsynonymous SNV M176I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 213479 chr12 94543034 94543034 C T rs775626758 PLXNC1 Nonsynonymous SNV P96L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 213480 chr12 94806111 94806111 C T CEP83 Synonymous SNV L52L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.44 213481 chr19 33642090 33642090 A G WDR88 Nonsynonymous SNV H228R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 213482 chr19 35450036 35450036 G C rs115485454 ZNF792 Synonymous SNV T241T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.861 213483 chr21 46925140 46925140 - GGCCCCCCA rs759403198 COL18A1 P1173_S1174insGPP 0 0.003 0 0 0 1 0 0 0 0 0 0 213484 chr19 35617920 35617920 C T rs10420608 LGI4 Synonymous SNV E210E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.1 213485 chr20 62192184 62192184 G A rs377573564 HELZ2 Synonymous SNV H1846H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.409 213486 chr19 35793497 35793497 A C rs142375870 MAG Nonsynonymous SNV S348R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 213487 chr19 36037690 36037690 T G rs144443897 TMEM147 Synonymous SNV T59T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.939 213488 chr19 36103794 36103794 - GTGAGGACCGCTCCTGGA HAUS5 Stop gain L34_S633del 0 0 0.003 0 0 0 0 1 0 0 0 0 213489 chr19 49657713 49657713 - CATCATCAT HRC D261_V262insDDD 0 0 0 1 0 0 0.003 0 0 0 0 0 213490 chr19 36230921 36230921 C A IGFLR1 Nonsynonymous SNV E137D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.117 213491 chr1 155640133 155640133 G C rs751570622 YY1AP1 Nonsynonymous SNV L225V 0.003 0 0 0 3 0 0 0 0 0 0 0 1.348 213492 chr19 36297954 36297954 G A rs141696829 PRODH2 Nonsynonymous SNV R299W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 213493 chr10 79601778 79601778 T C DLG5 Nonsynonymous SNV K433R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.588 213494 chr19 50140309 50140309 G A rs755565332 RRAS Nonsynonymous SNV R78W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 213495 chr15 75942010 75942010 T C rs370907944 SNX33 Synonymous SNV F189F 0 0 0 2 0 0 0.005 0 0 0 0 0 0.036 213496 chr19 50789769 50789769 C T MYH14 Nonsynonymous SNV R1483W 0 0.003 0 2 0 1 0.005 0 0 0 0 0 33 213497 chr19 51171920 51171920 G A SHANK1 Synonymous SNV P1099P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.321 213498 chr17 65110474 65110474 C T rs377393393 HELZ Nonsynonymous SNV R1296Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 213499 chr19 38077725 38077725 C G rs370705228 ZNF571-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.472 213500 chr22 20918817 20918822 CAGCAG - rs952245346 MED15 Q116_Q117del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 213501 chr15 83674418 83674420 CAC - rs768514409 C15orf40 V131del 0 0 0 2 0 0 0.005 0 0 0 0 0 213502 chr22 22036736 22036736 A G PPIL2 Nonsynonymous SNV Q133R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.6 213503 chr19 51584904 51584904 G T rs372330432 KLK14 Synonymous SNV R33R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.98 213504 chr19 38817563 38817563 G A KCNK6 Nonsynonymous SNV G218D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 213505 chr10 93776151 93776151 A G rs752525975 BTAF1 Nonsynonymous SNV T1547A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.03 213506 chr2 152321941 152321941 T C rs745536635 RIF1 Synonymous SNV F1969F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.368 213507 chr19 52003388 52003388 T C rs45524332 SIGLEC12 Synonymous SNV P80P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.004 213508 chr19 52003588 52003588 T C rs145853613 SIGLEC12 Nonsynonymous SNV S14G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.089 213509 chr21 34804616 34804616 A G rs750062777 IFNGR2 Nonsynonymous SNV I232V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 213510 chr19 40514435 40514435 G A rs367562674 ZNF546 Stop gain W93X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 213511 chr19 52207439 52207439 G C SPACA6 Nonsynonymous SNV V244L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.57 213512 chr19 52447898 52447898 C G rs747665647 ZNF613 Nonsynonymous SNV H254Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 12.97 213513 chr19 43983714 43983714 G A rs2305374 PHLDB3 Nonsynonymous SNV P506L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 213514 chr19 44251686 44251686 C A SMG9 Nonsynonymous SNV V166L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 213515 chr21 43411729 43411729 G C rs760398117 ZBTB21 Nonsynonymous SNV P826A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 213516 chr21 43412869 43412869 C T rs200548353 ZBTB21 Nonsynonymous SNV V446I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 213517 chr15 90628113 90628113 G A rs780400149 IDH2 Synonymous SNV C272C 0 0 0 1 0 0 0.003 0 0 0 0 0 7.476 213518 chr19 54672344 54672344 C T rs772052187 TMC4 Nonsynonymous SNV V175M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.5 213519 chr21 43704767 43704767 G C ABCG1 Nonsynonymous SNV A278P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 213520 chr17 76212838 76212838 C T rs142377770 BIRC5 Synonymous SNV D105D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 16.61 213521 chr21 45107517 45107517 C T rs781359367 RRP1B Nonsynonymous SNV P421L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 213522 chr21 45978381 45978381 C T rs375193088 KRTAP10-3 Nonsynonymous SNV S73N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.2 213523 chr21 46908340 46908340 C T rs199523495 COL18A1 Synonymous SNV P815P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.452 213524 chr21 47697544 47697544 G A rs771124524 MCM3AP Synonymous SNV L585L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.341 213525 chr10 116091655 116091655 C T rs1056689188 AFAP1L2 Synonymous SNV A74A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.793 213526 chr19 46307995 46307995 C T rs143615549 RSPH6A Nonsynonymous SNV E390K 0 0 0.003 0 0 0 0 1 0 0 0 0 22 213527 chr22 41832844 41832844 C T rs61756341 TOB2 Nonsynonymous SNV R169H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 213528 chr22 18300753 18300753 G C MICAL3 Nonsynonymous SNV H1558Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 213529 chr19 49362389 49362389 T A rs199829240 PLEKHA4 Nonsynonymous SNV T234S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 213530 chr22 21990826 21990826 G A rs144221624 CCDC116 Nonsynonymous SNV D437N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.459 213531 chr22 22292650 22292650 C T LOC100286925 0.001 0 0 0 1 0 0 0 0 0 0 0 7.536 213532 chr19 50037548 50037548 T A rs555967695 RCN3 Nonsynonymous SNV I114K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 213533 chr19 50099627 50099627 G A rs762059048 PRR12 Nonsynonymous SNV G679R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 213534 chr1 186415594 186415594 C T rs143530887 PDC Synonymous SNV R7R 0.003 0 0 0 4 0 0 0 0 0 0 0 8.974 213535 chr16 2141454 2141454 G A rs567482892 PKD1 Synonymous SNV S3893S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.62 213536 chr10 134726622 134726622 G A CFAP46 Nonsynonymous SNV A754V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.7 213537 chr22 50962640 50962640 G A rs61748568 SCO2 Synonymous SNV F67F 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.927 213538 chr18 12376984 12376984 T G rs777868371 AFG3L2 Nonsynonymous SNV Q33P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.41 213539 chr19 51961519 51961519 C A rs140904107 SIGLEC8 Synonymous SNV L41L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 16.7 213540 chr2 207027065 207027065 A G rs374517025 SNORA41 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.33 213541 chr13 79176056 79176056 C A rs763743520 POU4F1 Nonsynonymous SNV A252S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.88 213542 chr19 7141705 7141705 G A rs76077021 INSR Nonsynonymous SNV R877W 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 24.6 213543 chr16 3024609 3024609 G A rs371472836 PKMYT1 Synonymous SNV H238H 0 0 0 2 0 0 0.005 0 0 0 0 0 9.023 213544 chr11 609122 609122 C T rs767649058 PHRF1 Synonymous SNV A1222A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.54 213545 chr11 621439 621439 A T rs774795346 CDHR5 Nonsynonymous SNV F175Y 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 213546 chr19 8576535 8576535 C T rs754032186 ZNF414 Synonymous SNV P280P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.48 213547 chr19 8578026 8578026 G A rs909693416 ZNF414 Nonsynonymous SNV S68F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.1 213548 chr2 119604578 119604578 G C rs544035952 EN1 Nonsynonymous SNV P56A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.192 213549 chr1 204236636 204236636 C T rs147790229 PLEKHA6 Nonsynonymous SNV V83I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 213550 chr19 53741616 53741616 A G rs62117792 ZNF677 Synonymous SNV L122L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 213551 chr19 53884455 53884455 T C rs111817845 ZNF525 Nonsynonymous SNV V208A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 213552 chr18 59221634 59221634 G A rs747628783 CDH20 Synonymous SNV E704E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.993 213553 chr2 220505561 220505561 C T rs200578821 SLC4A3 Synonymous SNV I1193I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 19.13 213554 chr14 21869187 21869187 C T rs770193381 CHD8 Nonsynonymous SNV R1406H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 213555 chr16 57760063 57760063 G A DRC7 Synonymous SNV E549E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.149 213556 chr19 56190082 56190082 A G EPN1 Nonsynonymous SNV N30S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 213557 chr16 67424935 67424935 C G rs374128583 TPPP3 Nonsynonymous SNV G27A 0 0.003 0 4 0 1 0.01 0 0 0 0 1 23.9 213558 chr1 109441572 109441572 A G rs12069435 GPSM2 Synonymous SNV A251A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign/Likely benign 11.98 213559 chr22 50900530 50900530 G A rs369244386 SBF1 Synonymous SNV A806A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.708 213560 chr2 160833917 160833917 G A PLA2R1 Nonsynonymous SNV S760L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 213561 chr2 163039961 163039961 C T rs149046822 FAP Nonsynonymous SNV G586D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 213562 chr19 57742648 57742648 G T rs765267337 AURKC Nonsynonymous SNV G11V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.371 213563 chr18 77894174 77894174 A G rs576866641 ADNP2 Nonsynonymous SNV H293R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 213564 chr1 110033668 110033668 C T rs1149172 ATXN7L2 Nonsynonymous SNV P527S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.11 213565 chr14 25101185 25101185 - GT rs777851725 GZMB Frameshift insertion L148Hfs*5 0.001 0 0 1 1 0 0.003 0 0 0 0 0 213566 chr11 5021143 5021143 C G rs544371317 OR51L1 Nonsynonymous SNV L311V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 213567 chr2 170502645 170502645 A G rs146736463 CCDC173 Synonymous SNV D455D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.739 213568 chr2 10262865 10262865 C G rs72542788 RRM2 Synonymous SNV P40P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 213569 chr11 5221914 5221914 C T rs905473547 OR51V1 Nonsynonymous SNV R6K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 213570 chr2 240005886 240005886 T G HDAC4 Synonymous SNV R828R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.995 213571 chr16 75512735 75512735 T A CHST6 Nonsynonymous SNV Q331L 0 0.003 0 4 0 1 0.01 0 0 0 0 1 27 213572 chr19 7618889 7618889 C T PNPLA6 Synonymous SNV L797L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 213573 chr19 7677814 7677814 A G CAMSAP3 Nonsynonymous SNV K812R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.29 213574 chr1 118479428 118479428 A G WDR3 Nonsynonymous SNV S140G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 213575 chr2 242572997 242572997 G T rs147957437 THAP4 Nonsynonymous SNV A192E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.615 213576 chr19 2114139 2114139 C T AP3D1 Synonymous SNV K862K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.932 213577 chr1 228558811 228558811 G A rs138328162 OBSCN Nonsynonymous SNV V6778I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 213578 chr2 179621408 179621408 - A rs765423058 TTN Stop gain K3428* 0 0.003 0 0 0 1 0 0 0 0 0 0 213579 chr2 182399628 182399628 T C rs184369582 ITGA4 Nonsynonymous SNV I990T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.486 213580 chr2 27361025 27361025 C T rs538214448 PRR30 Nonsynonymous SNV R58H 0 0.008 0 0 0 3 0 0 0 0 0 0 0.013 213581 chr1 1325706 1325706 C T rs746945804 CCNL2 Nonsynonymous SNV A82T 0 0 0 5 0 0 0.013 0 0 0 0 0 23.6 213582 chr19 891057 891057 G A MED16 Synonymous SNV S25S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 213583 chr2 28532947 28532947 A C rs150302537 BABAM2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.393 213584 chr2 129076095 129076095 C T HS6ST1 Nonsynonymous SNV A15T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 213585 chr11 6591968 6591968 A G rs200866888 DNHD1 Nonsynonymous SNV Q4409R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.436 213586 chr2 133540465 133540465 C T rs778925689 NCKAP5 Nonsynonymous SNV E1307K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 213587 chr2 39185272 39185272 A T rs757903092 ARHGEF33 Nonsynonymous SNV T490S 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 1.379 213588 chr1 152081839 152081839 C G TCHH Nonsynonymous SNV R1285P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.92 213589 chr16 88789071 88789071 C G rs531569993 PIEZO1 Synonymous SNV L1565L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.518 213590 chr1 154031099 154031099 G A NUP210L Nonsynonymous SNV A974V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 213591 chr2 55254313 55254313 G C rs199609007 RTN4 Nonsynonymous SNV P102A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.496 213592 chr1 155015918 155015918 C G rs141437613 DCST1 Nonsynonymous SNV R344G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.08 213593 chr1 155018248 155018248 G C rs200122226 DCST1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.42 213594 chr19 8197904 8197904 C T rs749368441 FBN3 Nonsynonymous SNV G560S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 213595 chr19 8200946 8200946 C G rs371334933 FBN3 Nonsynonymous SNV G497A 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 213596 chr2 61275820 61275820 C A PEX13 Nonsynonymous SNV A376D 0 0.003 0 0 0 1 0 0 0 0 0 0 26 213597 chr11 17393567 17393567 A T rs568368631 NCR3LG1 Synonymous SNV S291S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 213598 chr11 17631713 17631713 C T rs780581249 OTOG Synonymous SNV V1634V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.6 213599 chr19 8999027 8999027 C A MUC16 Nonsynonymous SNV S13606I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 213600 chr14 89338776 89338776 C T rs140698625 TTC8 Nonsynonymous SNV R403W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 29.6 213601 chr14 93118203 93118203 C T rs149430559 RIN3 Nonsynonymous SNV S195L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 213602 chr2 219871207 219871207 C T rs149635127 CFAP65 Nonsynonymous SNV E1567K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 213603 chr2 175292475 175292475 A C rs756281683 SCRN3 Nonsynonymous SNV K369T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.78 213604 chr1 157667693 157667693 C G rs140491666 FCRL3 Nonsynonymous SNV Q105H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.1 213605 chr11 22399109 22399109 C T rs143304174 SLC17A6 Synonymous SNV L524L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 213606 chr2 74657786 74657786 C T rs748910916 RTKN Synonymous SNV P110P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.61 213607 chr1 27744895 27744895 T C rs752235793 WASF2 Synonymous SNV K98K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.844 213608 chr11 34226187 34226187 C T rs756127647 ABTB2 Nonsynonymous SNV G312S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 213609 chr1 120438378 120438378 G T ADAM30 Nonsynonymous SNV D194E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 213610 chr11 43941522 43941522 C T rs145378015 ALKBH3 Nonsynonymous SNV R275W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 213611 chr1 16069612 16069612 G A rs142233857 TMEM82 Nonsynonymous SNV V87M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 213612 chr19 9921763 9921763 C T rs199575681 FBXL12 Nonsynonymous SNV V231I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 213613 chr1 161736197 161736197 G T rs112863172 ATF6 Nonsynonymous SNV S16I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.6 213614 chr2 96993871 96993871 C T rs368013645 ITPRIPL1 Nonsynonymous SNV P509L 0 0.005 0 0 0 2 0 0 0 0 0 0 26.9 213615 chr14 105859019 105859019 G A PACS2 Synonymous SNV A683A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.466 213616 chr15 28228553 28228553 C T rs74653330 OCA2 Nonsynonymous SNV A457T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 213617 chr1 153748035 153748035 A G SLC27A3 Nonsynonymous SNV H21R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.113 213618 chr1 153750718 153750718 C T rs772039356 SLC27A3 Nonsynonymous SNV R415C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 213619 chr19 13035915 13035915 G A rs538977102 FARSA Synonymous SNV Y305Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.985 213620 chr1 154574541 154574541 G C rs145588689 ADAR Nonsynonymous SNV P193A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 213621 chr3 112969432 112969432 C T rs34208374 BOC Nonsynonymous SNV A43V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 213622 chr1 156100522 156100522 G A rs150645079 LMNA Synonymous SNV T45T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.88 213623 chr1 156703915 156703915 C T rs369102767 RRNAD1 Nonsynonymous SNV R251C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 213624 chr2 21235444 21235444 A G rs563766253 APOB Synonymous SNV D1432D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.485 213625 chr1 15694004 15694004 T G FHAD1 Nonsynonymous SNV V1045G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.272 213626 chr1 15694007 15694007 T G FHAD1 Nonsynonymous SNV L1046R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.8 213627 chr2 242422940 242422940 T C FARP2 Nonsynonymous SNV F775L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 213628 chr11 114421896 114421896 T A NXPE1 Nonsynonymous SNV T10S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.395 213629 chr1 15863017 15863017 C T rs745317266 DNAJC16 Synonymous SNV D94D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 213630 chr1 158813875 158813875 C T rs148142374 MNDA Nonsynonymous SNV T178I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 213631 chr1 181689970 181689970 A G rs183395195 CACNA1E Synonymous SNV A645A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 10.19 213632 chr1 1601145 1601145 G A rs115862299 SLC35E2B Synonymous SNV A264A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.614 213633 chr2 27530688 27530688 T C rs986220138 UCN Nonsynonymous SNV R26G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 213634 chr2 27852775 27852775 A G GPN1 Nonsynonymous SNV N54S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 213635 chr1 19062247 19062247 G C PAX7 Nonsynonymous SNV R426P 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 34 213636 chr1 19202895 19202895 C G rs148586081 ALDH4A1 Nonsynonymous SNV G358R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 34 213637 chr17 39203200 39203200 G A rs758057297 KRTAP2-1 Nonsynonymous SNV P107L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 213638 chr2 32875255 32875255 C T rs773452993 TTC27 Nonsynonymous SNV R149C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 213639 chr1 198247181 198247181 C T rs778458670 NEK7 Stop gain R155X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 47 213640 chr19 19308055 19308055 G A rs752109217 RFXANK Nonsynonymous SNV R111Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.31 213641 chr1 200378565 200378565 G C rs531654724 ZNF281 Nonsynonymous SNV P90R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.29 213642 chr3 130287443 130287443 G T rs373377669 COL6A6 Nonsynonymous SNV R799L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.722 213643 chr3 130694322 130694322 G A rs749054962 ATP2C1 Synonymous SNV A515A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.968 213644 chr1 169519887 169519887 A G F5 Nonsynonymous SNV F463L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.769 213645 chr3 132235633 132235633 G C rs553930800 DNAJC13 Nonsynonymous SNV M1882I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 213646 chr3 132322116 132322116 A G rs148795639 ACAD11 Synonymous SNV D526D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.641 213647 chr1 169952419 169952419 G A rs374252261 KIFAP3 Synonymous SNV L456L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.542 213648 chr1 170115358 170115358 A G METTL11B Nonsynonymous SNV D37G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 213649 chr1 170115360 170115360 - ATC METTL11B F38delinsYL 0 0 0.003 0 0 0 0 1 0 0 0 0 213650 chr1 63790064 63790064 G C rs762503325 FOXD3 Synonymous SNV A445A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.541 213651 chr11 60152688 60152688 C G rs148346043 MS4A7 Nonsynonymous SNV A92G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.69 213652 chr2 232665918 232665918 G A rs78779689 COPS7B 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 213653 chr1 202097185 202097185 G C GPR37L1 Nonsynonymous SNV C316S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.4 213654 chr17 40996996 40996996 G A rs559074792 AOC2 Nonsynonymous SNV R118Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 213655 chr1 203317034 203317034 T C FMOD Nonsynonymous SNV E122G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.6 213656 chr2 238725830 238725830 G C rs747723954 RBM44 Nonsynonymous SNV E91Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.412 213657 chr19 36207102 36207102 G A rs2234374 ZBTB32 Synonymous SNV P32P 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 8.363 213658 chr1 8390367 8390367 T C rs200094048 SLC45A1 Nonsynonymous SNV F272L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 213659 chr1 206773655 206773655 C T rs782220875 EIF2D Nonsynonymous SNV G180R 0 0 0 2 0 0 0.005 0 0 0 0 0 34 213660 chr1 183529339 183529339 G A rs55761650 NCF2 Nonsynonymous SNV P373S 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 0.748 213661 chr19 36832347 36832347 G A rs995880655 ZFP14 Synonymous SNV S128S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.728 213662 chr19 37310066 37310066 A G rs778603785 ZNF790 Nonsynonymous SNV Y394H 0.002 0 0 0 2 0 0 0 0 0 0 0 18.09 213663 chr3 16327849 16327849 A G rs199806047 OXNAD1 Nonsynonymous SNV I80V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.037 213664 chr19 38935259 38935259 C T rs892054 RYR1 Synonymous SNV D191D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 10.36 213665 chr19 38989881 38989881 A G rs147213895 RYR1 Nonsynonymous SNV N2342S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.13 213666 chr19 39401712 39401712 T A rs117592327 CCER2 Nonsynonymous SNV T68S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.023 213667 chr1 198721736 198721736 G A rs755012251 PTPRC Nonsynonymous SNV R954Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 213668 chr2 85780082 85780082 G T GGCX Nonsynonymous SNV L366M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 213669 chr19 40433796 40433796 T C FCGBP Nonsynonymous SNV E158G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 213670 chr1 201186581 201186581 G A rs756430432 IGFN1 Synonymous SNV P3254P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.176 213671 chr2 27601842 27601842 C T rs896918015 ZNF513 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 213672 chr1 220178598 220178598 T C EPRS1 Synonymous SNV E685E 0 0 0 2 0 0 0.005 0 0 0 0 0 7.199 213673 chr2 95691538 95691538 A G rs1031987762 MAL Star tloss M1? 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.2 213674 chr12 10034253 10034253 A G KLRF2 Nonsynonymous SNV Q20R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.041 213675 chr1 204124984 204124984 T C REN Synonymous SNV K341K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.251 213676 chr1 204978713 204978713 C T NFASC Synonymous SNV A928A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 213677 chr3 100015037 100015037 C G rs998066788 TBC1D23 Nonsynonymous SNV S265C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.98 213678 chr2 37032714 37032715 GA - rs770212277 VIT E398Vfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 213679 chr2 38177677 38177677 C T rs185137908 RMDN2-AS1 0.005 0 0.003 0 6 0 0 1 0 0 0 0 14.82 213680 chr3 184910381 184910381 C T rs35200935 EHHADH Nonsynonymous SNV R506Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.53 213681 chr1 206317584 206317584 C T rs782410730 CTSE Nonsynonymous SNV T3M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 213682 chr2 44528249 44528249 G A rs772223467 SLC3A1 Synonymous SNV T373T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.77 213683 chr11 82444651 82444651 C G rs371315457 FAM181B Nonsynonymous SNV D41H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.91 213684 chr1 228559084 228559084 G A rs780928459 OBSCN Nonsynonymous SNV V6869I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.62 213685 chr2 61561072 61561072 G C USP34 Nonsynonymous SNV L927V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 213686 chr3 25638098 25638098 C G rs143290192 RARB Synonymous SNV L446L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.215 213687 chr11 92087714 92087714 G T rs368806358 FAT3 Synonymous SNV S812S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.684 213688 chr20 33588310 33588310 G A rs779659453 MYH7B Nonsynonymous SNV E1708K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 213689 chr1 226055624 226055624 C T rs115600896 TMEM63A Nonsynonymous SNV V160I 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 9.941 213690 chr12 40707864 40707864 A G rs201540075 LRRK2 Nonsynonymous SNV I1543V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.008 213691 chr11 96074931 96074931 C T rs754161824 MAML2 Synonymous SNV R43R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 213692 chr11 96116603 96116605 TCA - rs747436032 CCDC82 D273del 0 0.003 0 0 0 1 0 0 0 0 0 0 213693 chr3 122821308 122821308 C T rs377598783 PDIA5 Nonsynonymous SNV P103L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 213694 chr19 48950042 48950042 G A rs1006520417 GRWD1 Nonsynonymous SNV R137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 213695 chr1 236911012 236911012 G A rs200529923 ACTN2 Synonymous SNV Q484Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.68 213696 chr3 42251705 42251705 C T rs770587624 TRAK1 Nonsynonymous SNV R657C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.09 213697 chr1 2316482 2316482 C T MORN1 Nonsynonymous SNV D158N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 213698 chr2 85785667 85785667 T C rs189477770 GGCX Synonymous SNV P88P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.206 213699 chr1 23234569 23234569 G A rs201892962 EPHB2 Nonsynonymous SNV V696I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 213700 chr19 49564883 49564883 C T rs755261332 NTF4 Synonymous SNV V124V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.39 213701 chr19 49671340 49671340 C T rs767015629 TRPM4 Nonsynonymous SNV A145V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 213702 chr3 129290039 129290039 G A rs148029269 PLXND1 Synonymous SNV D1148D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.525 213703 chr3 46965126 46965126 C T rs200462081 CCDC12 Nonsynonymous SNV A93T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 213704 chr3 47049017 47049017 C T rs775820031 NBEAL2 Nonsynonymous SNV T2412M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 213705 chr17 76117672 76117672 C T rs138918101 TMC6 Nonsynonymous SNV V450M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.104 213706 chr3 48616633 48616633 C T rs780121797 COL7A1 Synonymous SNV P1795P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.75 213707 chr11 120983864 120983864 G A rs761536132 TECTA Synonymous SNV T190T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.844 213708 chr11 122647831 122647831 C T rs35380329 UBASH3B Synonymous SNV S70S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 15.01 213709 chr3 51266125 51266125 C T rs765501208 DOCK3 Synonymous SNV L561L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.81 213710 chr19 52719147 52719147 G A PPP2R1A 0.001 0 0 0 1 0 0 0 0 0 0 0 26 213711 chr1 248487863 248487863 C T rs748479530 OR2M7 Stop gain W3X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 213712 chr11 124509689 124509689 G A rs78879979 SIAE Synonymous SNV F347F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.93 213713 chr12 56397802 56397802 C T rs141735896 SUOX Nonsynonymous SNV P210L 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 213714 chr11 124756386 124756386 G A rs377645881 ROBO4 Nonsynonymous SNV P778L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 213715 chr3 120495491 120495491 G A rs142264455 GTF2E1 Nonsynonymous SNV G291D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.9 213716 chr11 125873929 125873929 G C CDON Nonsynonymous SNV R632G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 213717 chr19 54867971 54867971 T C rs751957613 LAIR1 Nonsynonymous SNV Q189R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 213718 chr12 57919549 57919549 C G rs1000456414 MBD6 Synonymous SNV A266A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.3 213719 chr1 28206533 28206533 G A rs139829655 THEMIS2 Nonsynonymous SNV R205Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.867 213720 chr18 21141346 21141346 A G NPC1 Synonymous SNV F203F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.859 213721 chr12 2694651 2694651 C T rs112532048 CACNA1C Nonsynonymous SNV P817S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 25.1 213722 chr3 125877376 125877376 G A rs139827128 ALDH1L1 Synonymous SNV A88A 0.007 0 0.003 1 8 0 0.003 1 0 0 0 0 Likely benign 14.51 213723 chr3 12641706 12641706 A G rs370243307 RAF1 Nonsynonymous SNV V198A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 4.888 213724 chr19 56189095 56189095 C T rs551786479 EPN1 Nonsynonymous SNV A76V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.595 213725 chr12 85266474 85266474 A G rs149118754 SLC6A15 Synonymous SNV Y296Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 3.09 213726 chr12 6230358 6230358 G A rs757353387 VWF Nonsynonymous SNV R68C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 213727 chr1 40703313 40703313 C T rs764246867 RLF Nonsynonymous SNV P980L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 213728 chr3 130377560 130377560 C T rs200922054 COL6A6 Nonsynonymous SNV S1925F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.94 213729 chr12 7086295 7086295 C - rs202115738 LPCAT3 0 0.003 0 0 0 1 0 0 0 0 0 0 213730 chr1 40756572 40756572 G A rs41268053 ZMPSTE24 Nonsynonymous SNV R369Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 213731 chr12 7091021 7091021 G A rs60718946 LPCAT3 Synonymous SNV Y137Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.04 213732 chr3 1320144 1320144 G C rs762026832 CNTN6 Nonsynonymous SNV E64Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 213733 chr1 40928832 40928832 A G rs373998803 ZFP69B Synonymous SNV T392T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 2.025 213734 chr1 41482972 41482972 A G rs755988937 SLFNL1 Synonymous SNV F345F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.907 213735 chr3 195481215 195481215 G T rs146947442 MUC4 Nonsynonymous SNV T779N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.896 213736 chr1 45268964 45268964 A G rs140300759 PLK3 Nonsynonymous SNV I325V 0 0 0.007 0 0 0 0 2 0 0 0 0 6.275 213737 chr1 43770550 43770550 C T TIE1 Synonymous SNV A29A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 213738 chr4 113538900 113538900 G A rs368146228 ZGRF1 Synonymous SNV Y766Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.146 213739 chr1 43892785 43892785 G A rs138477355 SZT2 Nonsynonymous SNV R1066H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 213740 chr1 46499911 46499911 C T rs150802984 MAST2 Nonsynonymous SNV R1280W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 213741 chr18 46906113 46906113 C T rs202085847 DYM Nonsynonymous SNV R70Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 213742 chr3 196736683 196736683 G A rs149714057 MELTF Nonsynonymous SNV P444L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.94 213743 chr4 119951537 119951537 A G rs772274496 SYNPO2 Nonsynonymous SNV Y536C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 213744 chr19 58850189 58850189 G A rs769449537 ZSCAN22 Nonsynonymous SNV E325K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.74 213745 chr4 123193537 123193542 TTACTC - KIAA1109 T2809_L2810del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 213746 chr1 47034256 47034256 G A rs572693995 MKNK1-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 11.64 213747 chr1 54640311 54640311 T C rs775730518 CYB5RL Nonsynonymous SNV D231G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 213748 chr3 151082968 151082968 A G rs755831654 MED12L Synonymous SNV V1018V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 11.25 213749 chr20 1551639 1551639 G A rs747745133 SIRPB1 Nonsynonymous SNV S299L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.185 213750 chr4 140306019 140306019 T G NAA15 Nonsynonymous SNV V730G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 213751 chr1 6532673 6532673 G A rs140202670 PLEKHG5 Nonsynonymous SNV R332W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 213752 chr4 155157160 155157160 G T rs200042662 DCHS2 Nonsynonymous SNV Q2882K 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 27.6 213753 chr12 27107121 27107121 C T rs753467930 FGFR1OP2 Synonymous SNV A10A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 213754 chr1 75038603 75038603 C T rs148998121 ERICH3 Nonsynonymous SNV G931R 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 16 213755 chr12 28459719 28459719 A G rs147550538 CCDC91 Synonymous SNV P104P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.084 213756 chr1 7724209 7724209 C T rs143101821 CAMTA1 Synonymous SNV T504T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.22 213757 chr3 183059354 183059354 C T rs139888934 MCF2L2 Nonsynonymous SNV V114I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.682 213758 chr18 9254324 9254324 T C ANKRD12 Synonymous SNV P330P 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 7.736 213759 chr4 164394802 164394802 T C rs760102826 TKTL2 Nonsynonymous SNV R29G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 213760 chr1 6531107 6531107 G A PLEKHG5 Synonymous SNV C445C 0 0.01 0 1 0 4 0.003 0 0 0 0 0 11.94 213761 chr12 132633433 132633433 C A NOC4L Stop gain C298X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 213762 chr3 48207193 48207193 T C rs565583599 CDC25A Nonsynonymous SNV N335S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.527 213763 chr19 10488966 10488966 G A TYK2 Synonymous SNV G39G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 9.077 213764 chr12 49912875 49912875 A G SPATS2 Synonymous SNV R306R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 213765 chr16 89777178 89777178 G A rs772381672 VPS9D1 Synonymous SNV G358G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.649 213766 chr12 50468007 50468007 G A rs758885951 ASIC1 Nonsynonymous SNV G214S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.51 213767 chr16 90103724 90103724 G C rs139167960 GAS8 Nonsynonymous SNV D89H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 24.3 213768 chr1 86173869 86173869 T C rs763524197 ZNHIT6 Synonymous SNV V33V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.652 213769 chr1 86591105 86591105 T C rs200901529 COL24A1 Nonsynonymous SNV Q305R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 213770 chr12 52565198 52565198 G A rs76226247 KRT80 Nonsynonymous SNV S448L 0 0.005 0 0 0 2 0 0 0 0 0 0 32 213771 chr20 13514696 13514696 G C rs752693907 TASP1 Synonymous SNV A125A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.202 213772 chr20 33225736 33225736 G A rs201423770 PIGU Synonymous SNV A124A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 213773 chr19 13041124 13041124 C T rs199824396 FARSA Nonsynonymous SNV R139Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.4 213774 chr20 35431280 35431285 CTCCTT - SOGA1 K1105_E1106del 0.001 0 0 0 1 0 0 0 0 0 0 0 213775 chr3 58095866 58095866 G A rs151259375 FLNB Nonsynonymous SNV R818Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 213776 chr3 58380747 58380747 C T rs35065965 PXK Nonsynonymous SNV T76I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 213777 chr3 27473029 27473029 C T SLC4A7 Nonsynonymous SNV A304T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 213778 chr19 15540830 15540830 C T rs141499743 WIZ Synonymous SNV A73A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.24 213779 chr20 22563563 22563563 G T rs776215689 FOXA2 Nonsynonymous SNV A106E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 213780 chr20 44181821 44181821 T - rs747010866 WFDC8 K180Nfs*55 0.001 0 0.003 0 1 0 0 1 0 0 0 0 213781 chr20 44258465 44258465 A G rs145677123 WFDC10A Nonsynonymous SNV T5A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 213782 chr20 23066429 23066429 T C rs527569700 CD93 Nonsynonymous SNV N134S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 213783 chr13 53036702 53036702 G A CKAP2 Synonymous SNV E436E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.282 213784 chr4 42583677 42583677 T A ATP8A1 Synonymous SNV G265G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 213785 chr4 42583678 42583678 C T ATP8A1 Nonsynonymous SNV G265E 0 0.003 0 0 0 1 0 0 0 0 0 0 33 213786 chr20 44569565 44569565 C A rs371513868 PCIF1 Nonsynonymous SNV L169I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 213787 chr12 55688409 55688409 A C rs151019652 OR6C6 Nonsynonymous SNV V203G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.24 213788 chr12 56536426 56536426 C T rs531891775 ESYT1 Nonsynonymous SNV S943L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 213789 chr12 56705028 56705028 G A rs76871886 CNPY2 Synonymous SNV I125I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 213790 chr12 56749296 56749296 G A rs148272090 STAT2 Synonymous SNV L134L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.325 213791 chr4 56830538 56830538 T C CEP135 Synonymous SNV N266N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.377 213792 chr4 103188714 103188714 T C rs146759817 SLC39A8 Nonsynonymous SNV N322S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 14.95 213793 chr3 44284958 44284958 A G TOPAZ1 Synonymous SNV S320S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.07 213794 chr20 33567575 33567575 C T rs181482834 MYH7B Synonymous SNV L146L 0.003 0 0.014 0 4 0 0 4 0 0 0 0 Benign 14.54 213795 chr22 47116084 47116084 C T CERK Nonsynonymous SNV R93Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 213796 chr20 34146725 34146725 G A rs566274163 FER1L4 0 0 0.007 0 0 0 0 2 0 0 0 0 5.879 213797 chr20 56234697 56234697 C T rs751677818 PMEPA1 Nonsynonymous SNV V28M 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 213798 chr20 22562977 22562977 G T FOXA2 Synonymous SNV S301S 0 0 0 2 0 0 0.005 0 0 0 0 0 6.804 213799 chr20 22563515 22563515 T G rs746347217 FOXA2 Nonsynonymous SNV Q122P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 213800 chr20 36760744 36760744 G A rs201666703 TGM2 Nonsynonymous SNV R511W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 213801 chr19 19767485 19767485 G C rs754809322 ATP13A1 Nonsynonymous SNV S356C 0 0 0 2 0 0 0.005 0 0 0 0 0 25 213802 chr4 119952380 119952380 G C SYNPO2 Nonsynonymous SNV R817P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 213803 chr12 72008641 72008641 C T rs768856919 ZFC3H1 Nonsynonymous SNV C1778Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.446 213804 chr12 72025833 72025833 T C rs149187335 ZFC3H1 Synonymous SNV K1093K 0 0.005 0 1 0 2 0.003 0 0 0 0 0 1.396 213805 chr20 42887151 42887151 G A rs141872493 GDAP1L1 Nonsynonymous SNV A170T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.06 213806 chr3 48209397 48209397 T C rs202026442 CDC25A Nonsynonymous SNV K283R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.26 213807 chr20 33575648 33575648 C T rs190201202 MYH7B Synonymous SNV T491T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 14.46 213808 chr2 109392327 109392327 A C rs767036572 RANBP2 Nonsynonymous SNV E2811A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.008 213809 chr20 34575384 34575384 G A rs142929392 CNBD2 Nonsynonymous SNV E262K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 213810 chr2 110922187 110922187 C T rs762350912 NPHP1 Synonymous SNV V283V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.875 213811 chr20 35431444 35431444 G A rs190032659 SOGA1 Nonsynonymous SNV R1052W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 213812 chr20 35569499 35569499 C T SAMHD1 Synonymous SNV R97R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.15 213813 chr12 96641418 96641418 C T rs536026245 ELK3 Nonsynonymous SNV P303L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 213814 chr21 28338448 28338448 C T rs757869716 ADAMTS5 Nonsynonymous SNV G88D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 213815 chr20 52781100 52781100 C T rs114930663 CYP24A1 Nonsynonymous SNV M245I 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 213816 chr20 36948629 36948629 G A rs377617756 BPI Nonsynonymous SNV V237M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 213817 chr3 53854626 53854626 T C rs750596777 CHDH Nonsynonymous SNV Q332R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 213818 chr12 105534757 105534757 A C WASHC4 Synonymous SNV L548L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.256 213819 chr20 42204919 42204919 C T rs781753057 SGK2 Nonsynonymous SNV P310L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 213820 chr20 43118107 43118107 C T rs374289262 TTPAL Synonymous SNV P318P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.61 213821 chr20 60883201 60883201 C T rs77432560 ADRM1 Synonymous SNV I288I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 213822 chr4 941568 941568 C T rs148512239 TMEM175 Nonsynonymous SNV P14L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.122 213823 chr20 60901772 60901772 C T rs202112441 LAMA5 Synonymous SNV T1753T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 213824 chr12 110252334 110252334 G A TRPV4 Synonymous SNV L90L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.78 213825 chr12 110815243 110815243 T C ANAPC7 Nonsynonymous SNV R472G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.78 213826 chr20 44506102 44506102 G A rs569141770 ZSWIM3 Nonsynonymous SNV R302H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 213827 chr3 68802103 68802103 C T rs368834384 TAFA4 Nonsynonymous SNV R66H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 213828 chr19 36594342 36594342 C T rs139946168 WDR62 Synonymous SNV G1204G 0.003 0.008 0.007 2 3 3 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.17 213829 chr4 175897907 175897907 T A rs772970685 ADAM29 Nonsynonymous SNV C411S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 213830 chr5 10263254 10263254 C T CCT5 Synonymous SNV T387T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.135 213831 chr21 43282108 43282108 C T rs202208616 PRDM15 Nonsynonymous SNV A210T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 213832 chr20 4713197 4713197 C T PRNT 0 0 0 1 0 0 0.003 0 0 0 0 0 0.801 213833 chr4 186544311 186544311 T C rs141097429 SORBS2 Nonsynonymous SNV N658D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.97 213834 chr20 49626503 49626503 C T KCNG1 Nonsynonymous SNV G125S 0 0 0 2 0 0 0.005 0 0 0 0 0 23 213835 chr12 121877694 121877694 G A rs371377304 KDM2B Synonymous SNV T1196T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.71 213836 chr12 122257478 122257478 T A rs188280904 SETD1B Nonsynonymous SNV V1196E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.995 213837 chr12 122337659 122337659 A T rs143562133 PSMD9 Nonsynonymous SNV S121C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 213838 chr12 122862045 122862045 G A rs369229613 CLIP1 Nonsynonymous SNV P183L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 213839 chr12 123687348 123687348 G A MPHOSPH9 Nonsynonymous SNV T535M 0 0.003 0 0 0 1 0 0 0 0 0 0 24 213840 chr4 187630813 187630813 C T rs201854030 FAT1 Nonsynonymous SNV V57I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.012 213841 chr4 1985632 1985632 C T rs146344023 NELFA Synonymous SNV V415V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 213842 chr20 57598878 57598878 C G rs61757565 TUBB1 Synonymous SNV G132G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.44 213843 chr21 32638528 32638528 G T TIAM1 Nonsynonymous SNV A254E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.138 213844 chr12 125509853 125509861 CCCCAGCAA - rs536585330 BRI3BP N217_S219del 0.001 0.005 0 0 1 2 0 0 0 0 0 0 213845 chr19 40722109 40722109 G A rs202246852 TTC9B Synonymous SNV D227D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 8.183 213846 chr20 60791636 60791636 G A rs201892060 HRH3 Nonsynonymous SNV P255L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.02 213847 chr12 132498407 132498407 G A rs761082851 EP400 Nonsynonymous SNV R1291H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 213848 chr12 132551342 132551342 G A rs770409885 EP400 Synonymous SNV L2859L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 213849 chr4 36231067 36231067 G A rs748150911 ARAP2 Synonymous SNV F14F 0 0.003 0 0 0 1 0 0 0 0 0 0 5.791 213850 chr5 137281649 137281649 T C rs761133442 FAM13B Nonsynonymous SNV Y711C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 213851 chr21 40665912 40665912 C T rs372595428 BRWD1 Nonsynonymous SNV R219H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 213852 chr19 42342227 42342227 C A rs782449407 LYPD4 Nonsynonymous SNV S72I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.3 213853 chr19 42584919 42584919 C G ZNF574 Nonsynonymous SNV L811V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 213854 chr20 61943030 61943030 C G rs972124649 COL20A1 Nonsynonymous SNV D531E 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.648 213855 chr20 61981019 61981019 C T CHRNA4 Nonsynonymous SNV D582N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 213856 chr19 4409693 4409693 G A rs773306436 CHAF1A Synonymous SNV P299P 0.001 0 0 6 1 0 0.015 0 0 0 0 0 9.797 213857 chr21 43833618 43833618 A G rs771558115 UBASH3A Nonsynonymous SNV Y218C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.529 213858 chr13 24858401 24858401 A G rs148292690 SPATA13 Nonsynonymous SNV I62V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 213859 chr13 26624784 26624784 C G rs771786340 SHISA2 Synonymous SNV S110S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.21 213860 chr21 45751873 45751873 C T rs144430869 CFAP410 Nonsynonymous SNV R133H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 213861 chr21 45825799 45825799 C T rs34601320 TRPM2 Nonsynonymous SNV A890V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.949 213862 chr21 46117736 46117736 G A rs782587806 KRTAP10-12 Nonsynonymous SNV R207H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 213863 chr4 140196538 140196538 G A rs200166574 MGARP Nonsynonymous SNV R31C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 213864 chr22 24462938 24462938 A G rs200973010 CABIN1 Nonsynonymous SNV I630V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 213865 chr20 948689 948689 T C rs200792773 RSPO4 Nonsynonymous SNV I58V 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 24.1 213866 chr5 140772981 140772981 G C rs199973289 PCDHGA8 Nonsynonymous SNV D201H 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 25.7 213867 chr4 56448359 56448359 C T rs190198366 PDCL2 Nonsynonymous SNV G18S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 213868 chr4 146461094 146461094 A G rs758506902 SMAD1 Nonsynonymous SNV N180S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.205 213869 chr21 46930100 46930100 G A COL18A1 Synonymous SNV L1383L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 213870 chr13 42295687 42295687 A G rs138978193 VWA8 Nonsynonymous SNV V928A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 213871 chr5 14487740 14487740 A T TRIO Nonsynonymous SNV R2335W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.4 213872 chr19 4511956 4511956 G A rs539563816 PLIN4 Synonymous SNV T672T 0.001 0 0 6 1 0 0.015 0 0 0 0 0 0.565 213873 chr13 48832325 48832325 A C rs758048491 ITM2B Nonsynonymous SNV I173L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 213874 chr21 34400082 34400082 C A rs555647590 OLIG2 Nonsynonymous SNV H304Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.77 213875 chr5 149398229 149398229 G A HMGXB3 Nonsynonymous SNV G171D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 213876 chr4 71021769 71021769 A G rs368669259 PRR27 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 213877 chr22 21989856 21989856 T A CCDC116 Nonsynonymous SNV C502S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.437 213878 chr4 73990707 73990707 C T rs149296080 ANKRD17 Nonsynonymous SNV G888S 0 0.003 0 0 0 1 0 0 0 0 0 0 30 213879 chr17 61574572 61574572 C T rs763049172 ACE Nonsynonymous SNV R641C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.7 213880 chr5 151150000 151150000 C G rs1042237651 LOC100652758 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.085 213881 chr13 102051370 102051370 T C rs747543062 NALCN Synonymous SNV P36P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.93 213882 chr21 43913159 43913159 C A rs138320978 RSPH1 Stop gain E29X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 37 213883 chr5 154395057 154395057 C T rs191490719 KIF4B Synonymous SNV N546N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 1.97 213884 chr17 66538223 66538223 C T rs35871101 FAM20A Nonsynonymous SNV G338S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 32 213885 chr5 158139307 158139307 G A rs367971813 EBF1 Synonymous SNV H437H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.57 213886 chr22 26895174 26895174 C G TFIP11 Nonsynonymous SNV D378H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 213887 chr21 45705979 45705979 C A AIRE Nonsynonymous SNV H30Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.8 213888 chr5 161113257 161113257 A G rs112717732 GABRA6 Synonymous SNV K20K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.049 213889 chr5 168222557 168222557 G C rs370853269 SLIT3 Nonsynonymous SNV A321G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.97 213890 chr22 32108856 32108856 T C rs988329229 PRR14L Nonsynonymous SNV K1657E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 213891 chr5 169812421 169812421 G A rs139716868 KCNMB1 Nonsynonymous SNV R11W 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 33 213892 chr21 47581870 47581870 T G SPATC1L Nonsynonymous SNV Y65S 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 213893 chr14 20344713 20344713 G T OR4K2 Nonsynonymous SNV G96V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.77 213894 chr5 172659941 172659941 C G rs3729753 NKX2-5 Synonymous SNV L202L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.762 213895 chr4 2438654 2438654 C T rs746621697 CFAP99 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.959 213896 chr5 176026120 176026143 CTCAAAGACCCAGGATCCTCCTTC - rs142779818 GPRIN1 E233_K240del 0 0.005 0 0 0 2 0 0 0 0 0 0 213897 chr17 74150458 74150458 A C rs76090105 RNF157-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.103 213898 chr22 38352843 38352843 C T POLR2F Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 213899 chr4 37448701 37448701 T C rs981465914 NWD2 Synonymous SNV F1697F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 213900 chr4 38776337 38776337 A T rs145992369 TLR10 Nonsynonymous SNV F292Y 0.002 0 0 0 2 0 0 0 1 0 0 0 24.3 213901 chr17 74383348 74383348 G A rs34632043 SPHK1 Nonsynonymous SNV R279H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 213902 chr15 31851250 31851250 C T rs144509293 OTUD7A Nonsynonymous SNV V158M 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25 213903 chr2 225761030 225761030 T C DOCK10 Nonsynonymous SNV D127G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 213904 chr5 108134072 108134072 T C rs56199104 FER Synonymous SNV Y63Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.011 213905 chr4 42588463 42588463 C T rs757783790 ATP8A1 Nonsynonymous SNV V209I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 213906 chr5 180038370 180038370 T C rs776229820 FLT4 Nonsynonymous SNV D1216G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.068 213907 chr15 38776829 38776829 G A rs1046941797 FAM98B Nonsynonymous SNV G424D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 213908 chr14 23371025 23371025 G T rs200403747 RBM23 Synonymous SNV T404T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.99 213909 chr14 23528466 23528466 C T rs925515073 ACIN1 Nonsynonymous SNV R579K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 213910 chr17 76803262 76803262 C T rs780446860 USP36 Nonsynonymous SNV D622N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.01 213911 chr22 50721244 50721244 C T rs200925999 PLXNB2 Synonymous SNV L961L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.887 213912 chr22 50885654 50885654 G A rs754888523 SBF1 Nonsynonymous SNV R1842C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 213913 chr5 34824470 34824470 C T RAI14 Synonymous SNV L812L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.54 213914 chr14 24883915 24883915 C T rs373042156 NYNRIN Nonsynonymous SNV P987L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.48 213915 chr4 62383045 62383045 G A ADGRL3 Nonsynonymous SNV S23N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 213916 chr5 129240924 129240924 C T rs556180521 CHSY3 Synonymous SNV P134P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.43 213917 chr22 46929899 46929899 G A rs148349145 CELSR1 Nonsynonymous SNV R1057C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.5 213918 chr4 66218804 66218804 C T rs759048340 EPHA5 Nonsynonymous SNV V731M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 213919 chr22 50280759 50280759 T C rs138117582 ZBED4 Nonsynonymous SNV M1150T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.79 213920 chr22 50302962 50302962 C T rs114264124 ALG12 Nonsynonymous SNV R233Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 17.7 213921 chr22 31530106 31530106 G C INPP5J Nonsynonymous SNV G473R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 213922 chrX 48418123 48418123 C T rs372060130 TBC1D25 Nonsynonymous SNV A292V 0.002 0 0 0 2 0 0 0 1 0 0 0 5.028 213923 chr22 50961536 50961536 C T rs9628174 NCAPH2 Synonymous SNV L541L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.36 213924 chr14 51080015 51080015 C T rs146975855 ATL1 Synonymous SNV Y223Y 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Benign/Likely benign 7.496 213925 chr5 139820691 139820691 C T ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV L293F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 213926 chrX 63412683 63412683 T C rs768139000 AMER1 Nonsynonymous SNV M162V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 213927 chrX 71427330 71427330 T C ERCC6L Synonymous SNV T429T 0.003 0 0 0 4 0 0 0 2 0 0 0 0.022 213928 chr2 110372231 110372231 C G rs1037166889 SOWAHC Nonsynonymous SNV H55Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 213929 chr22 39772080 39772080 G C rs78665292 SYNGR1 Nonsynonymous SNV V121L 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 32 213930 chr5 70840335 70840335 G A BDP1 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 213931 chr14 60585282 60585282 G A rs144345462 PCNX4 Nonsynonymous SNV R371Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 213932 chr2 11780565 11780565 G A rs376089071 GREB1 Synonymous SNV T1945T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 13.24 213933 chr2 26700330 26700330 C T rs867139017 OTOF Nonsynonymous SNV R97H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 213934 chr14 64467358 64467358 A C rs57259697 SYNE2 Nonsynonymous SNV I1187L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.015 213935 chr2 120388462 120388462 T A rs201082491 CFAP221 Nonsynonymous SNV D653E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.461 213936 chrX 129147159 129147159 C T rs375461860 BCORL1 Synonymous SNV A137A 0.002 0 0 0 2 0 0 0 1 0 0 0 15.32 213937 chr18 28711637 28711637 C T DSC1 Nonsynonymous SNV V803I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.26 213938 chr2 128393896 128393896 G A MYO7B Synonymous SNV V2014V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 213939 chr14 64916165 64916165 C T rs10813 MTHFD1 Nonsynonymous SNV T761M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 213940 chrX 132351489 132351489 T C rs756929660 TFDP3 Nonsynonymous SNV I267V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.49 213941 chr18 29044225 29044225 G A rs377115190 DSG3 Nonsynonymous SNV R384H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.05 213942 chr22 44602262 44602262 C T rs73428406 PARVG Stop gain Q318X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 213943 chr2 133542010 133542010 T C rs200676700 NCKAP5 Nonsynonymous SNV M792V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 213944 chr14 69521338 69521338 C A rs116182003 DCAF5 Nonsynonymous SNV A688S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.263 213945 chr14 69522017 69522017 C T rs140157894 DCAF5 Synonymous SNV S461S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 213946 chr18 32844315 32844315 A G rs763548096 ZSCAN30 Star tloss M1? 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.3 213947 chr2 144764911 144764911 T C rs200171546 GTDC1 Nonsynonymous SNV N238S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 213948 chr5 94839528 94839528 C G rs143346257 TTC37 Nonsynonymous SNV E1069D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 213949 chr2 15760364 15760364 C T rs368420085 DDX1 Synonymous SNV F413F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 213950 chr2 15760370 15760370 A G rs372713719 DDX1 Synonymous SNV V415V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.83 213951 chr2 159490598 159490598 A G rs762187080 PKP4 Synonymous SNV L453L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.542 213952 chr19 5867600 5867600 C T FUT5 Nonsynonymous SNV R46K 0.001 0 0 6 1 0 0.015 0 0 0 0 0 0.001 213953 chr14 76644430 76644430 G A rs191956742 GPATCH2L Synonymous SNV P416P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.68 213954 chr2 162357792 162357792 A G rs149895753 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.119 213955 chr14 78174470 78174470 G C rs147560423 SLIRP Nonsynonymous SNV A6P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.86 213956 chr2 167334059 167334059 G A SCN7A Nonsynonymous SNV L50F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 213957 chr22 51065444 51065444 T G ARSA Nonsynonymous SNV T168P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.141 213958 chr2 170403133 170403133 G A rs768549631 FASTKD1 Synonymous SNV D409D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.77 213959 chr2 102842420 102842420 G A rs33946385 IL1RL2 Nonsynonymous SNV V210I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.648 213960 chr2 102968243 102968243 G A rs113360315 IL1RL1 Synonymous SNV K511K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 9.213 213961 chr14 93709146 93709146 G C rs375048606 BTBD7 Nonsynonymous SNV P607A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 213962 chr2 178096434 178096434 C T NFE2L2 Nonsynonymous SNV M269I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.863 213963 chr2 103095461 103095461 G A rs73944356 SLC9A4 Synonymous SNV L140L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.617 213964 chr5 172744996 172744996 C A STC2 Nonsynonymous SNV G255C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 213965 chr6 122766268 122766268 G C rs149693952 SERINC1 Nonsynonymous SNV S428C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 213966 chr2 179455731 179455731 C G rs200212521 TTN Nonsynonymous SNV E11176Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.37 213967 chr14 95670789 95670789 G A rs143079668 CLMN Synonymous SNV F299F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.412 213968 chr5 176829657 176829657 G C rs762403049 F12 Nonsynonymous SNV P525R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 213969 chr2 112767633 112767633 C T rs139822416 MERTK Nonsynonymous SNV T690I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 20.4 213970 chr19 8400524 8400524 G A KANK3 Nonsynonymous SNV R63C 0.001 0 0 4 1 0 0.01 0 0 0 0 0 27.9 213971 chr14 100118587 100118587 C T rs774931193 HHIPL1 Synonymous SNV L94L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.473 213972 chr5 138658658 138658658 - GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGA rs772660614 MATR3 0.001 0 0 0 1 0 0 0 0 0 0 0 213973 chr19 8555797 8555797 C T rs545511903 PRAM1 Nonsynonymous SNV E573K 0.001 0 0 4 1 0 0.01 0 0 0 0 0 32 213974 chr2 179634969 179634969 T C rs794729581 TTN Nonsynonymous SNV H2774R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.65 213975 chr14 102605642 102605642 G A rs41285492 HSP90AA1 Synonymous SNV L34L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.104 213976 chr2 11725893 11725893 G T rs192688544 GREB1 Nonsynonymous SNV A341S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 213977 chr14 103576427 103576427 A G rs367579528 EXOC3L4 Nonsynonymous SNV H679R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 213978 chr14 103602284 103602284 C T rs41310340 TNFAIP2 Nonsynonymous SNV R699C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.551 213979 chr2 189906331 189906331 A G rs148110552 COL5A2 Nonsynonymous SNV V1205A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.71 213980 chr2 196737054 196737054 G C rs377517600 DNAH7 Nonsynonymous SNV R2185G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 213981 chr2 201722510 201722510 T C CLK1 Nonsynonymous SNV N297D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 213982 chr5 37022489 37022489 A T rs781077369 NIPBL Synonymous SNV I1857I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.839 213983 chr6 153043080 153043080 C T rs371983005 MYCT1 Stop gain R86X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 213984 chr2 202900961 202900961 A G rs140867221 FZD7 Nonsynonymous SNV M531V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 213985 chr2 152319458 152319458 G A rs137963675 RIF1 Nonsynonymous SNV A1142T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.071 213986 chr3 100119504 100119504 C A rs138698299 TOMM70 Nonsynonymous SNV G97V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.27 213987 chr2 207176104 207176104 C G ZDBF2 Nonsynonymous SNV S2284R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 213988 chr5 480214 480214 G A rs925558793 SLC9A3-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.575 213989 chr5 52402931 52402931 T C rs749876758 MOCS2 Nonsynonymous SNV E25G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.1 213990 chr6 160553381 160553381 G T SLC22A1 Synonymous SNV L211L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 213991 chr15 40662052 40662052 C T rs3743142 DISP2 Nonsynonymous SNV R1247W 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 19.66 213992 chr2 160087178 160087178 G A rs758359486 TANC1 Synonymous SNV P1546P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.595 213993 chr5 149907759 149907759 G A NDST1 Nonsynonymous SNV G303R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 213994 chr2 21238047 21238047 G A rs138243977 APOB Synonymous SNV S1198S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.676 213995 chr15 41062953 41062953 G A rs368691469 C15orf62 Nonsynonymous SNV R87Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.4 213996 chr5 60825934 60825934 T C rs757310729 ZSWIM6 Synonymous SNV H631H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.395 213997 chr15 41145339 41145339 G T rs139263716 SPINT1 Nonsynonymous SNV A165S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 213998 chr2 216213954 216213954 C T rs373747093 ATIC Synonymous SNV N547N 0 0 0.007 0 0 0 0 2 0 0 0 0 16.03 213999 chr2 162881430 162881430 C T rs200943230 DPP4 Nonsynonymous SNV V303M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 214000 chr3 113004363 113004363 C A rs777774107 BOC Synonymous SNV A1037A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 214001 chr6 169639488 169639488 G A LOC101929523 0 0.003 0 0 0 1 0 0 0 0 0 0 3.394 214002 chr2 219128304 219128304 G A rs201573186 GPBAR1 Nonsynonymous SNV R286H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.6 214003 chr15 42059376 42059376 G A rs529631721 MGA Synonymous SNV G2823G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.716 214004 chr2 219870265 219870265 C T rs769364439 CFAP65 Nonsynonymous SNV A1648T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.126 214005 chr15 42446373 42446373 C T rs201349237 PLA2G4F Nonsynonymous SNV D123N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.2 214006 chr2 170592212 170592212 A G rs997486618 KLHL23, PHOSPHO2-KLHL23 Nonsynonymous SNV I230V 0 0 0 2 0 0 0.005 0 0 0 0 0 2.295 214007 chr5 78602238 78602238 G A rs369814387 JMY Nonsynonymous SNV R641H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 214008 chr2 220422194 220422194 C T rs766548555 OBSL1 Nonsynonymous SNV G1313R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.5 214009 chr2 17697870 17697870 C T rs150308334 RAD51AP2 Nonsynonymous SNV E605K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 20.2 214010 chr5 168244399 168244399 T C rs145745913 SLIT3 Synonymous SNV R233R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.208 214011 chr15 45561656 45561656 C T rs988688425 SLC28A2 Stop gain Q497X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 214012 chr5 176729486 176729486 G A rs61758742 RAB24 Synonymous SNV I115I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.545 214013 chr2 233899554 233899554 C T rs147030809 NEU2 Synonymous SNV Y310Y 0 0 0.007 1 0 0 0.003 2 0 0 0 0 1.565 214014 chr2 179638441 179638441 T C rs143616825 TTN Nonsynonymous SNV I2402V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 214015 chr15 56683509 56683509 T C rs34017428 TEX9 Nonsynonymous SNV F80S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 214016 chr2 179720206 179720206 T C CCDC141 Synonymous SNV P976P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.438 214017 chr15 57922022 57922022 G A rs142052894 GCOM1, MYZAP Synonymous SNV A216A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.505 214018 chr15 58001245 58001245 A G rs148475097 GCOM1, POLR2M Synonymous SNV T149T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 214019 chr15 58001424 58001424 C T rs143723126 GCOM1, POLR2M Nonsynonymous SNV S52L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 214020 chr1 1269123 1269123 G A TAS1R3 Nonsynonymous SNV C613Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.72 214021 chr6 41903759 41903759 C T rs375843578 CCND3 Synonymous SNV A194A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.14 214022 chr16 29706265 29706265 G A rs142650560 QPRT Synonymous SNV L98L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.77 214023 chr6 44270883 44270883 T C rs777436220 AARS2 Synonymous SNV S725S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.982 214024 chr2 25467143 25467143 C A DNMT3A Stop gain E426X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 214025 chr16 30097919 30097919 C T rs368712218 TBX6 Synonymous SNV P337P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.542 214026 chr2 192256898 192256898 T A rs148260477 MYO1B Nonsynonymous SNV S683T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.51 214027 chr2 26681001 26681001 G A rs145899319 OTOF Synonymous SNV I1200I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 214028 chr15 75042386 75042386 G A rs763535401 CYP1A2 Nonsynonymous SNV D103N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.38 214029 chr3 141011380 141011380 G A rs754902015 PXYLP1 Nonsynonymous SNV R259H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.1 214030 chr15 78834927 78834927 G A rs748174564 PSMA4 Nonsynonymous SNV R50H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 214031 chr16 57238710 57238710 G A rs200607629 RSPRY1 Nonsynonymous SNV R47Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 214032 chr15 78921432 78921432 C T rs765684498 CHRNB4 Synonymous SNV P405P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.066 214033 chr15 79277409 79277409 C T rs143238097 RASGRF1 Synonymous SNV S350S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 14.94 214034 chr2 203846866 203846866 G A rs201571899 CARF Synonymous SNV P243P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.5 214035 chr2 206548069 206548069 C G rs145169333 NRP2 Nonsynonymous SNV Q19E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 214036 chr15 85525547 85525547 G A rs943984676 PDE8A Nonsynonymous SNV E52K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 214037 chr19 14037530 14037530 C A rs200663646 CC2D1A Nonsynonymous SNV P689T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 32 214038 chr5 68412016 68412016 A T rs373916890 SLC30A5 Synonymous SNV V349V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.587 214039 chr16 75148093 75148093 C T rs139739338 LDHD Stop gain W223X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 214040 chr5 72419402 72419402 G A rs149174030 TMEM171 Nonsynonymous SNV V68M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.8 214041 chr2 64780533 64780533 C G AFTPH Nonsynonymous SNV T642S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.233 214042 chr19 15297976 15297976 C T rs955926125 NOTCH3 Nonsynonymous SNV G594S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 214043 chr2 219614099 219614099 C T rs143830092 TTLL4 Synonymous SNV N908N 0.005 0.003 0 2 6 1 0.005 0 0 0 0 0 13.13 214044 chr3 184157036 184157036 T C rs73049061 LINC02054 0.003 0 0 0 3 0 0 0 0 0 0 0 0.015 214045 chr3 184800867 184800867 C T rs139649690 C3orf70 Synonymous SNV P227P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.97 214046 chr3 184910520 184910520 T C rs140735525 EHHADH Nonsynonymous SNV R460G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 214047 chr2 220326662 220326662 C T rs892641717 SPEG Synonymous SNV P833P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.37 214048 chr1 167871029 167871029 C A ADCY10 Nonsynonymous SNV A11S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.9 214049 chr16 360035 360035 G T rs563996799 AXIN1 Nonsynonymous SNV H352N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.57 214050 chr16 426670 426670 C T rs147207812 PGAP6 Nonsynonymous SNV G260S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.888 214051 chr2 96936981 96936981 G - CIAO1 D305Mfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 214052 chr2 96945282 96945282 G A SNRNP200 Synonymous SNV P1680P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 214053 chr2 97361545 97361545 G A FER1L5 Nonsynonymous SNV G1321S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 214054 chr2 97494765 97494765 G T CNNM3 Synonymous SNV L603L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 214055 chr2 97520142 97520142 C T rs141955527 ANKRD39 Nonsynonymous SNV R46Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 214056 chr6 22570525 22570525 G A rs199533885 HDGFL1 Nonsynonymous SNV E241K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 214057 chr1 17318878 17318878 A C ATP13A2 Nonsynonymous SNV V617G 0.002 0 0 5 2 0 0.013 0 0 0 0 0 23.4 214058 chr2 234675744 234675744 T C UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Nonsynonymous SNV M310T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 214059 chr3 10967712 10967712 G A rs2272394 SLC6A11 Synonymous SNV A381A 0.002 0.003 0.01 0 2 1 0 3 0 0 1 0 14.28 214060 chr6 110620144 110620144 T C rs368846661 METTL24 Nonsynonymous SNV N59S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 214061 chr19 35085127 35085127 A G SCGB2B2 Nonsynonymous SNV F67L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.84 214062 chr7 100681650 100681650 C A rs574475018 MUC17 Stop gain S2318X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 214063 chr6 35434105 35434105 A C rs749697038 FANCE Nonsynonymous SNV K532Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.94 214064 chr1 180904674 180904674 C G rs373695931 KIAA1614 Nonsynonymous SNV I543M 0.001 0 0 5 1 0 0.013 0 0 0 0 0 0.008 214065 chr7 117431372 117431372 A G CTTNBP2 Synonymous SNV C608C 0 0.005 0 0 0 2 0 0 0 0 0 0 0.402 214066 chr6 125550356 125550356 G T TPD52L1 Nonsynonymous SNV M47I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 214067 chr7 128492746 128492746 C T rs538779271 FLNC Nonsynonymous SNV R1949C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 34 214068 chr3 130748668 130748668 G T rs534422270 NEK11 Nonsynonymous SNV S39I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 214069 chr3 132051085 132051085 C A rs898355761 ACPP Nonsynonymous SNV T118K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 214070 chr6 146125634 146125634 G C rs145948993 FBXO30 Synonymous SNV L636L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.219 214071 chr16 19126129 19126129 T C rs76086024 ITPRIPL2 Synonymous SNV L116L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.684 214072 chr16 19184892 19184892 T G rs150589668 SYT17 Synonymous SNV P54P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.955 214073 chr3 139654298 139654298 C T rs74884664 CLSTN2 Nonsynonymous SNV R28W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 214074 chr16 20370884 20370884 C A rs148051428 PDILT Nonsynonymous SNV L504F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.798 214075 chr3 140401440 140401440 C T rs114082086 TRIM42 Nonsynonymous SNV P160S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 214076 chr16 23091327 23091327 T C rs751519878 USP31 Nonsynonymous SNV I706V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 214077 chr3 150377695 150377695 A G rs375788396 ERICH6 Nonsynonymous SNV I513T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 214078 chr19 42911544 42911544 G T rs750580518 LIPE Nonsynonymous SNV A640E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 21.7 214079 chr16 27374582 27374582 C T rs1045532927 IL4R Nonsynonymous SNV L637F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 214080 chr6 15497355 15497355 G A rs141726970 JARID2 Synonymous SNV K461K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.827 214081 chr2 42997666 42997666 T C HAAO Nonsynonymous SNV D136G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.6 214082 chr6 53883865 53883865 C A rs746137761 MLIP Nonsynonymous SNV N13K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.09 214083 chr6 53883873 53883873 T C rs775590050 MLIP Nonsynonymous SNV L16S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.84 214084 chr2 48026389 48026389 C G rs587781657 MSH6 Nonsynonymous SNV L293V 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Uncertain significance 14.71 214085 chr19 44611632 44611632 G - rs745634413 ZNF224 R440Sfs*33 0.003 0 0 1 3 0 0.003 0 0 0 0 0 214086 chr3 17052026 17052026 A G rs192811560 PLCL2 Synonymous SNV E270E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 214087 chr7 149482256 149482256 G C SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 214088 chr1 208202351 208202351 G A PLXNA2 Synonymous SNV N1754N 0 0 0 2 0 0 0.005 0 0 0 0 0 11.11 214089 chr6 64423495 64423495 A G rs756122936 PHF3 Nonsynonymous SNV Y1916C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 214090 chr2 49190490 49190490 C A FSHR Nonsynonymous SNV M464I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.3 214091 chr3 53916127 53916129 ATT - ACTR8 Star tloss M1? 0.004 0 0 0 5 0 0 0 0 0 0 0 214092 chr16 53692693 53692693 C A RPGRIP1L Nonsynonymous SNV L447F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.335 214093 chr16 53860054 53860054 T A FTO Synonymous SNV A108A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 214094 chr19 45404001 45404001 C G TOMM40 Nonsynonymous SNV H220D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 214095 chr3 180379773 180379773 C T rs115952495 CCDC39 Nonsynonymous SNV R78H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 20.8 214096 chr2 55056495 55056495 T C rs200952932 EML6 Nonsynonymous SNV M243T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 214097 chr19 46130062 46130062 G A EML2 Synonymous SNV H98H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.576 214098 chr16 57318433 57318433 T C PLLP Nonsynonymous SNV K7R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 214099 chr3 62189092 62189092 C T rs139395417 PTPRG Synonymous SNV A541A 0.005 0 0 0 6 0 0 0 0 0 0 0 13.01 214100 chr19 46823715 46823715 C T rs549485889 HIF3A Synonymous SNV T278T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.16 214101 chr3 186938901 186938901 G A MASP1 Nonsynonymous SNV H611Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 214102 chr2 70486628 70486628 A G PCYOX1 Synonymous SNV Q83Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.441 214103 chr16 70285703 70285703 G C rs780172429 EXOSC6 Nonsynonymous SNV T34R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.444 214104 chr7 20201376 20201376 A C rs73683397 MACC1 Nonsynonymous SNV I37S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.59 214105 chr2 73492453 73492453 G A rs200984173 FBXO41 Synonymous SNV P507P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.294 214106 chr6 26108052 26108052 G A rs754747532 H1-6 Synonymous SNV S90S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.745 214107 chr6 26235027 26235027 G A rs200463287 H1-3 Synonymous SNV I45I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.298 214108 chr3 195785492 195785492 C T rs145738445 TFRC Synonymous SNV P234P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.97 214109 chr2 74328006 74328006 C A TET3 Nonsynonymous SNV P1271H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 214110 chr16 71894532 71894532 C T ZNF821 Nonsynonymous SNV V168I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.333 214111 chr3 25654052 25654052 G A TOP2B Nonsynonymous SNV T1242I 0 0 0.007 0 0 0 0 2 0 0 1 0 27.1 214112 chr16 75512546 75512546 C T rs139042144 CHST6 Nonsynonymous SNV R394Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.93 214113 chr2 86831336 86831336 T C rs769930719 RNF103 Nonsynonymous SNV N563S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.048 214114 chr16 75512855 75512855 G T rs776726417 CHST6 Nonsynonymous SNV T291N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.86 214115 chr2 97216368 97216368 C T rs36003446 ARID5A Synonymous SNV T210T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.15 214116 chr2 97370273 97370273 C A rs146348195 FER1L5 Synonymous SNV I2006I 0 0 0 2 0 0 0.005 0 0 0 0 0 6.83 214117 chr7 30694397 30694397 C T rs568709511 CRHR2 Nonsynonymous SNV A375T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.606 214118 chr1 229730110 229730110 G A rs146079560 TAF5L Synonymous SNV S568S 0 0 0 3 0 0 0.008 0 0 0 0 0 11.56 214119 chr16 84529368 84529372 TTTCC - rs778588286 MEAK7 G101Lfs*70 0 0.003 0 0 0 1 0 0 0 0 0 0 214120 chr7 39504235 39504235 A C rs149617494 POU6F2 Nonsynonymous SNV T705P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 214121 chr3 45038700 45038700 A G EXOSC7 Nonsynonymous SNV I126V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 214122 chr6 42893346 42893346 A C PTCRA Synonymous SNV R151R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 214123 chr6 44116288 44116288 G A TMEM63B Nonsynonymous SNV C387Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 214124 chr7 47872838 47872838 C A PKD1L1 Nonsynonymous SNV A2063S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.43 214125 chr3 49759302 49759302 G A rs781114909 GMPPB Synonymous SNV N349N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.714 214126 chr16 89262557 89262557 C G rs528992428 SLC22A31 Nonsynonymous SNV E379D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 214127 chr7 101918615 101918615 C A CUX1 Nonsynonymous SNV N500K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 214128 chr7 107217791 107217791 C T rs990662681 DUS4L Nonsynonymous SNV P247L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 214129 chr6 54254690 54254690 T C rs142011171 TINAG Synonymous SNV A466A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.947 214130 chr19 54410130 54410130 T G rs78437096 PRKCG Nonsynonymous SNV V692G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 214131 chr7 117180174 117180174 G A rs143486492 CFTR Nonsynonymous SNV R297Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 214132 chr7 6441975 6441975 G A rs745691810 RAC1 Synonymous SNV A159A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 214133 chr3 58279470 58279470 A G rs146742146 ABHD6 Nonsynonymous SNV D331G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 214134 chr19 55739629 55739629 G A rs141874101 TMEM86B Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.467 214135 chr6 82461743 82461757 CCGCCGAAGTCGCCG - TENT5A D41_G45del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 214136 chr19 56052649 56052649 C A rs568564168 SBK3 Nonsynonymous SNV D215Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 214137 chr19 56090951 56090951 C T ZNF579 Nonsynonymous SNV G19S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 214138 chr4 103265743 103265743 C T SLC39A8 Nonsynonymous SNV G26E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 214139 chr7 100187695 100187695 G A rs188195347 FBXO24 Synonymous SNV E33E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 214140 chr1 27278439 27278439 G A rs150246438 KDF1 Nonsynonymous SNV R145W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 28.9 214141 chr4 110885609 110885609 T C rs377445081 EGF Synonymous SNV H455H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.526 214142 chr19 57133366 57133366 G T rs373155014 ZNF71 Synonymous SNV T237T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.828 214143 chr4 1161445 1161445 C T rs1054529499 SPON2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 214144 chr1 232581494 232581494 T C rs369338127 SIPA1L2 Nonsynonymous SNV Y1045C 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 214145 chr4 25677955 25677955 C G rs115500754 SLC34A2 Nonsynonymous SNV R552G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.2 214146 chr17 7462420 7462420 G C rs138476542 TNFSF13 Nonsynonymous SNV V22L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 214147 chr17 7534047 7534047 T C SHBG Nonsynonymous SNV F85L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.66 214148 chr3 142031594 142031594 A G XRN1 Nonsynonymous SNV I1543T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 214149 chr3 142567287 142567287 T G rs747577646 PCOLCE2 Nonsynonymous SNV N74H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 214150 chr1 236718907 236718907 G A HEATR1 Synonymous SNV L1900L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 214151 chr1 35227080 35227080 C T rs768594039 GJB4 Synonymous SNV R75R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.87 214152 chr1 3547575 3547575 G C WRAP73 Synonymous SNV V449V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.689 214153 chr3 148858273 148858273 C T rs371986139 HPS3 Nonsynonymous SNV R234W 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 21.7 214154 chr7 150163789 150163789 G A rs752895303 GIMAP8 Star tloss M1? 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.003 214155 chr17 8791758 8791758 G A rs368972251 PIK3R5 Nonsynonymous SNV T63M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.597 214156 chr17 9676229 9676229 G A rs763172666 DHRS7C Synonymous SNV S194S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.79 214157 chr3 15274172 15274172 C T rs149320289 CAPN7 Synonymous SNV S393S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.28 214158 chr8 113299353 113299353 A G rs145027071 CSMD3 Nonsynonymous SNV S2891P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 214159 chr4 41628929 41628929 C G LIMCH1 Synonymous SNV L310L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.75 214160 chr1 41249955 41249955 G A KCNQ4 Nonsynonymous SNV G64S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 214161 chr20 1445045 1445045 G A rs191322139 NSFL1C Synonymous SNV D44D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 214162 chr4 155411540 155411540 C T rs758489313 DCHS2 Nonsynonymous SNV R323H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 214163 chr4 158281097 158281097 C T rs376885131 GRIA2 Nonsynonymous SNV A698V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 214164 chr1 44459603 44459603 T C rs201556031 CCDC24 Nonsynonymous SNV V21A 0 0 0 3 0 0 0.008 0 0 0 0 0 13.6 214165 chr4 169630234 169630234 T C rs747089184 PALLD Synonymous SNV F137F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.773 214166 chr4 174459200 174459200 C G HAND2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.616 214167 chr7 117832005 117832005 G A rs190126936 LSM8 Synonymous SNV A80A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.57 214168 chr20 3765878 3765880 TCC - rs755501841 CENPB E419del 0.001 0 0 0 1 0 0 0 0 0 0 0 214169 chr3 184062467 184062467 G C FAM131A Synonymous SNV R185R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.493 214170 chr4 185580532 185580532 T C rs201904312 PRIMPOL Synonymous SNV D73D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.42 214171 chr17 26694472 26694472 C T rs374073338 VTN Nonsynonymous SNV R452Q 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 214172 chr7 128446359 128446359 C T rs146397482 CCDC136 Synonymous SNV N386N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.34 214173 chr17 26964884 26964884 T C KIAA0100 Nonsynonymous SNV M438V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.45 214174 chr3 190030726 190030726 A C CLDN1 Nonsynonymous SNV L108W 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 214175 chr20 17639796 17639796 C T rs760750630 RRBP1 Nonsynonymous SNV E453K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.729 214176 chr4 187455560 187455560 G A rs751040971 MTNR1A Synonymous SNV I112I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 214177 chr7 133884016 133884016 C T rs61749958 LRGUK Synonymous SNV I530I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 214178 chr8 144899272 144899272 C G rs775843637 PUF60 Synonymous SNV S350S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.314 214179 chr4 74361148 74361148 C T rs765807836 AFM Nonsynonymous SNV A397V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.963 214180 chr7 4119177 4119177 C T rs142640222 SDK1 Synonymous SNV D1095D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 214181 chr8 145003284 145003284 T C PLEC Nonsynonymous SNV I1069V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.13 214182 chr7 139636103 139636103 C T rs199666672 TBXAS1 Synonymous SNV N88N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 15.6 214183 chr17 33806317 33806317 T A SLFN12L Nonsynonymous SNV L304F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.36 214184 chr17 33879938 33879938 A G SLFN14 Nonsynonymous SNV I572T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.615 214185 chr17 35880747 35880747 T C rs370165113 SYNRG Nonsynonymous SNV D1018G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 214186 chr18 5416299 5416299 G A rs150384501 EPB41L3 Nonsynonymous SNV R529C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 214187 chr3 196817888 196817888 C T rs141544348 DLG1 Nonsynonymous SNV R436H 0 0 0.01 2 0 0 0.005 3 0 0 0 0 35 214188 chr4 8089975 8089975 G A rs768221546 ABLIM2 Synonymous SNV N125N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 214189 chr7 143018866 143018866 C A CLCN1 Synonymous SNV L207L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 214190 chr7 143701522 143701522 G A rs199611986 OR6B1 Nonsynonymous SNV A145T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.693 214191 chr7 47840308 47840308 C T rs150206836 PKD1L1 Nonsynonymous SNV R2711Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 4.387 214192 chr4 8372641 8372641 G A rs752616861 ACOX3 Synonymous SNV D659D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 214193 chr17 37901205 37901205 A G GRB7 Nonsynonymous SNV T327A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.44 214194 chr17 37985732 37985732 G A rs61749874 IKZF3 Nonsynonymous SNV A24V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.491 214195 chr4 41956181 41956181 G A rs138944207 TMEM33 Nonsynonymous SNV A237T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 214196 chr17 38253559 38253559 G C NR1D1 Synonymous SNV S43S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.841 214197 chr4 420246 420246 G C rs533136003 ABCA11P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.032 214198 chr18 12367277 12367277 T G rs764723311 AFG3L2 Nonsynonymous SNV K133Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 214199 chr18 13737030 13737030 G A rs771908667 RNMT Nonsynonymous SNV R192Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 214200 chr1 75037859 75037859 C G rs748393986 ERICH3 Nonsynonymous SNV G1179R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 214201 chr7 5417609 5417609 G C TNRC18 Nonsynonymous SNV H733Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.98 214202 chr3 38645506 38645506 A G rs45624133 SCN5A Synonymous SNV I529I 0 0 0.003 4 0 0 0.01 1 0 0 0 0 Benign 7.511 214203 chr3 38651442 38651442 G A rs41285129 SCN5A Synonymous SNV I239I 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Benign/Likely benign 16.11 214204 chr8 22064881 22064881 C T rs202053510 BMP1 Synonymous SNV D809D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.4 214205 chr7 154760540 154760540 - TGC rs748736321 PAXIP1 Q457_A458insQ 0.004 0 0 3 5 0 0.008 0 0 0 0 0 214206 chr7 72848433 72848433 C T FZD9 Synonymous SNV R32R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.25 214207 chr4 69078037 69078037 G T rs549563665 FTLP10 0 0 0.007 0 0 0 0 2 0 0 0 0 3.014 214208 chr3 44945470 44945470 C T rs200982271 TGM4 Stop gain R356X 0 0 0 3 0 0 0.008 0 0 0 0 0 35 214209 chr18 47322228 47322228 T C rs35109059 ACAA2 Synonymous SNV E112E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.251 214210 chr18 47429043 47429043 C A rs114221227 MYO5B Nonsynonymous SNV R911L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 35 214211 chr18 47777185 47777185 G A rs35308427 CFAP53 Synonymous SNV L313L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.61 214212 chr4 71346950 71346950 A G rs976476764 MUC7 Synonymous SNV Q163Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 214213 chr1 89843988 89843988 G A GBP6 Synonymous SNV E17E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.539 214214 chr4 74606393 74606393 C T rs1803205 CXCL8 Synonymous SNV A6A 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 Likely benign 11.32 214215 chr17 40719272 40719272 C G rs765662123 MLX Nonsynonymous SNV L44V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.94 214216 chr17 40996790 40996790 C A rs145927458 AOC2 Nonsynonymous SNV H49Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.75 214217 chr20 61511161 61511161 C G DIDO1 Synonymous SNV A2049A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.836 214218 chr17 42327861 42327861 G A rs201265160 SLC4A1 Nonsynonymous SNV R901W 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Uncertain significance 23.5 214219 chr4 8224639 8224639 T C rs141515730 SH3TC1 Synonymous SNV D319D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 214220 chr17 42476726 42476726 G A rs139161658 GPATCH8 Nonsynonymous SNV R829C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 214221 chr8 67488501 67488501 G T MYBL1 Nonsynonymous SNV A404D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 214222 chr8 67752273 67752273 T C C8orf44-SGK3, SGK3 Synonymous SNV P259P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.1 214223 chr8 68031036 68031036 C T rs751492469 CSPP1 Synonymous SNV H260H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.901 214224 chr8 71646472 71646472 T A XKR9 Nonsynonymous SNV I312N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.723 214225 chr20 62562301 62562301 C T rs144915847 DNAJC5 Nonsynonymous SNV A140V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 214226 chr5 138727954 138727954 G A PROB1 Synonymous SNV L939L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.521 214227 chr5 138858042 138858042 C T rs750561744 STING1 Nonsynonymous SNV R72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.065 214228 chr18 76754477 76754477 - GCCC SALL3 Frameshift insertion C829Wfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 214229 chr21 18919421 18919421 A G rs1063521 CXADR Synonymous SNV P40P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.418 214230 chr5 111496907 111496907 C A EPB41L4A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.8 214231 chr2 100938150 100938150 C A LONRF2 Nonsynonymous SNV A136S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.122 214232 chr8 98656962 98656962 C G rs201534103 MTDH Synonymous SNV A76A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.11 214233 chr8 99169912 99169912 C T rs145798300 POP1 Nonsynonymous SNV R830W 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 214234 chr17 60030333 60030333 G A rs114013865 MED13 Nonsynonymous SNV A2037V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.16 214235 chr21 34927468 34927468 - AGCCGCACCCCCAGCCGCCGG rs766784590 SON R1998_R1999insSRTPSRR 0.001 0 0 0 1 0 0 0 0 0 0 0 214236 chr21 35191615 35191615 G A rs774720789 ITSN1 Nonsynonymous SNV V997I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.88 214237 chr19 1108241 1108241 G A SBNO2 Nonsynonymous SNV P1303L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 214238 chr5 145894747 145894747 C T rs746920278 GPR151 Synonymous SNV S310S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 214239 chr5 146258293 146258293 - GCTGCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSSS 0.003 0 0 0 3 0 0 0 0 0 0 0 214240 chr21 40186202 40186202 G A rs34373350 ETS2 Nonsynonymous SNV A64T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.222 214241 chr19 2832450 2832450 C G rs750534805 ZNF554 Nonsynonymous SNV L135V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.284 214242 chr3 8590449 8590449 G A rs147666403 LMCD1 Nonsynonymous SNV G122S 0 0 0 2 0 0 0.005 0 0 0 0 0 31 214243 chr7 6541448 6541448 G A rs61734441 GRID2IP Synonymous SNV S1121S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 214244 chr7 6542741 6542741 G A rs373500827 GRID2IP Synonymous SNV A987A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.537 214245 chr2 118766211 118766211 T C rs747844112 CCDC93 Synonymous SNV E22E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.402 214246 chr5 140236381 140236381 A T rs781924329 PCDHA10 Nonsynonymous SNV M250L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 214247 chr5 149433888 149433888 C G rs34030164 CSF1R Nonsynonymous SNV E920D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign/Likely benign 12.51 214248 chr8 12950171 12950171 C T rs144644763 DLC1 Synonymous SNV A719A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 214249 chr8 132989295 132989295 G A EFR3A Nonsynonymous SNV G392R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 214250 chr2 131519828 131519828 A G AMER3 Synonymous SNV E61E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.063 214251 chr5 140763512 140763512 T C PCDHGA7 Nonsynonymous SNV M349T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.221 214252 chr20 34025674 34025674 C G GDF5 Nonsynonymous SNV W12S 0 0 0 3 0 0 0.008 0 0 0 0 0 21.4 214253 chr5 140773936 140773936 C T rs183754735 PCDHGA8 Nonsynonymous SNV S519F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 214254 chr2 141128833 141128833 C T rs752964745 LRP1B Nonsynonymous SNV R3597H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.7 214255 chr5 140866695 140866695 G T rs565927415 PCDHGC4 Nonsynonymous SNV S652I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 214256 chr5 141325318 141325318 G C rs748846027 PCDH12 Synonymous SNV L1061L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.112 214257 chr17 76045989 76045989 T C rs770432155 TNRC6C Synonymous SNV N282N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 214258 chr7 94944635 94944635 T C rs144627591 PON1 Synonymous SNV E123E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 214259 chr9 122004461 122004461 C T BRINP1 Nonsynonymous SNV S148N 0 0.005 0 0 0 2 0 0 0 0 0 0 22.2 214260 chr7 94947661 94947661 G A rs141665531 PON1 Nonsynonymous SNV P40L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 214261 chr5 148999940 148999940 C T rs368910887 ARHGEF37 Synonymous SNV H306H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.437 214262 chr5 167937597 167937597 A G RARS1 Nonsynonymous SNV K453R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 214263 chr5 168244309 168244309 G A rs768416060 SLIT3 Synonymous SNV C263C 0.002 0 0 0 2 0 0 0 0 0 0 0 10.18 214264 chr2 166211028 166211028 A G SCN2A Synonymous SNV V1082V 0 0 0 2 0 0 0.005 0 0 0 0 0 4.612 214265 chr5 169476 169476 G A PLEKHG4B Nonsynonymous SNV M1166I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 214266 chr4 125593112 125593112 A G rs139556147 ANKRD50 Synonymous SNV Y261Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.087 214267 chr5 154278753 154278753 T C rs61749642 GEMIN5 Synonymous SNV K1043K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.762 214268 chr8 10755816 10755816 G A rs768237791 XKR6 Synonymous SNV P524P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.855 214269 chr8 145738230 145738230 C T rs186739072 RECQL4 Nonsynonymous SNV A919T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Uncertain significance 24.8 214270 chr4 152498602 152498602 G T rs199902938 FAM160A1 Nonsynonymous SNV V36F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 214271 chr17 79991409 79991409 C T rs550155912 RAC3 Nonsynonymous SNV R128W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 214272 chr8 17407828 17407828 C T rs755322390 SLC7A2 Synonymous SNV N239N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 214273 chr5 163600 163600 G A rs202040593 PLEKHG4B Nonsynonymous SNV R1138Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.157 214274 chr2 179438077 179438077 C T rs142874389 TTN Nonsynonymous SNV R15196Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 214275 chr2 179593093 179593093 T C TTN Synonymous SNV K5242K 0 0 0 2 0 0 0.005 0 0 0 0 0 2.807 214276 chr5 176011599 176011599 G A rs114267729 CDHR2 Nonsynonymous SNV V773I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 214277 chr8 131792780 131792780 A G rs147371587 ADCY8 Synonymous SNV N1204N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.281 214278 chr8 131792810 131792810 C T rs139593989 ADCY8 Synonymous SNV A1194A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.07 214279 chr8 131812756 131812756 C T rs62640023 ADCY8 Synonymous SNV A992A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.819 214280 chr4 170037658 170037658 G A rs77113673 SH3RF1 Nonsynonymous SNV A634V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 2.163 214281 chr5 179025750 179025750 C T rs199910786 RUFY1 Synonymous SNV R455R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 214282 chr4 177142620 177142620 C T rs150458674 ASB5 Synonymous SNV T172T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.22 214283 chr22 37602710 37602710 G A rs371635196 SSTR3 Nonsynonymous SNV T378M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 214284 chr5 40959651 40959651 G A C7 Synonymous SNV G530G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.974 214285 chr22 38038851 38038851 G C rs375662492 LOC101927051 0.001 0 0 0 1 0 0 0 0 0 0 0 1.382 214286 chr9 139302015 139302015 - A rs750902971 ENTR1 0 0.003 0.007 0 0 1 0 2 0 0 0 0 214287 chr22 38120527 38120527 G A rs148083430 TRIOBP Nonsynonymous SNV R655Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.29 214288 chr9 139749275 139749275 C T rs151315050 MAMDC4 Synonymous SNV F332F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.833 214289 chr2 191524619 191524619 C T rs777918335 NAB1 Synonymous SNV N239N 0 0 0 2 0 0 0.005 0 0 0 0 0 12.02 214290 chr5 32058117 32058117 C T rs542284593 PDZD2 Nonsynonymous SNV A703V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.157 214291 chr5 492055 492055 A C rs753749438 SLC9A3 Nonsynonymous SNV F115V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 214292 chr5 33998890 33998890 G C AMACR Stop gain S145X 0 0 0.003 0 0 0 0 1 0 0 0 0 4.437 214293 chr8 30695469 30695469 T G rs139782205 TEX15 Synonymous SNV L2777L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.982 214294 chr8 30705815 30705815 T C rs150878526 TEX15 Nonsynonymous SNV N623S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 214295 chr8 30954338 30954338 C T rs11574263 WRN Synonymous SNV G651G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 13.92 214296 chr8 32617888 32617888 C G rs62497784 NRG1 Nonsynonymous SNV T257S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 23.3 214297 chr18 33706525 33706525 T C rs766944788 SLC39A6 Nonsynonymous SNV H149R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 214298 chr22 42473954 42473954 T C rs886862703 PHETA2 Synonymous SNV P219P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.005 214299 chr8 56698915 56698915 C T rs143111097 TGS1 Nonsynonymous SNV A60V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.282 214300 chr18 45556207 45556207 C G rs141303808 ZBTB7C Nonsynonymous SNV K428N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 214301 chr4 25915968 25915968 C A SMIM20 Nonsynonymous SNV F11L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 214302 chr4 27024331 27024331 G A rs757398904 STIM2 Nonsynonymous SNV D652N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 214303 chr8 59728090 59728090 G A rs138337223 TOX Nonsynonymous SNV P400L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 214304 chr4 2721759 2721759 T C rs142661776 FAM193A X1212R 0 0 0 2 0 0 0.005 0 0 0 0 0 5.474 214305 chr5 59943259 59943259 G T DEPDC1B Stop gain S139X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 214306 chr5 637678 637678 G T rs150033054 CEP72 Nonsynonymous SNV L317F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.52 214307 chr5 65349905 65349905 A G rs374278956 ERBIN Nonsynonymous SNV Y920C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.321 214308 chr8 146017401 146017401 G A rs201586885 RPL8 Synonymous SNV H38H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 214309 chr4 41687797 41687797 G A rs61733763 LIMCH1 Synonymous SNV P795P 0.004 0.003 0.01 3 5 1 0.008 3 0 0 0 0 8.072 214310 chr9 35547003 35547003 C G RUSC2 Nonsynonymous SNV T162R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.27 214311 chr8 17613010 17613010 A T rs61733702 MTUS1 Nonsynonymous SNV C103S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 214312 chr5 73148508 73148508 G A rs200948428 ARHGEF28 Nonsynonymous SNV R281K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 214313 chr8 95423425 95423425 C T rs548333835 RAD54B Stop gain W141X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 214314 chr19 18256621 18256621 C T rs369452096 MAST3 Synonymous SNV N1007N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.37 214315 chr8 18257704 18257704 G A rs1801279 NAT2 Nonsynonymous SNV R64Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 drug response 25.2 214316 chr5 76326675 76326675 G A rs138660986 AGGF1 Synonymous SNV K28K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 214317 chr19 18775227 18775227 C T rs767504295 KLHL26 Synonymous SNV V80V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.62 214318 chr9 105767283 105767283 C A rs199617987 CYLC2 Nonsynonymous SNV Q124K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 214319 chr19 19675769 19675769 C T rs116791423 PBX4 Nonsynonymous SNV A300T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.815 214320 chr5 90087078 90087078 C A rs201747452 ADGRV1 Nonsynonymous SNV P4811Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.6 214321 chr19 21565799 21565799 G A rs2011379 ZNF738 Nonsynonymous SNV V151M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.051 214322 chr9 112963409 112963409 C T rs201662135 C9orf152 Nonsynonymous SNV C180Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 214323 chr5 89695353 89695353 T C rs781631508 CETN3 Nonsynonymous SNV I94M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.354 214324 chrX 47433670 47433670 G A SYN1 Synonymous SNV G571G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.097 214325 chr4 70351049 70351049 A G rs780480606 UGT2B4 Nonsynonymous SNV F396S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 214326 chrX 48830650 48830650 G A rs148441537 GRIPAP1 Synonymous SNV C827C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.71 214327 chr8 26220321 26220321 A G rs142156798 PPP2R2A Synonymous SNV L263L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.288 214328 chr5 94957161 94957161 C G rs745488976 GPR150 Stop gain Y394X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 214329 chr9 8404607 8404607 G A rs138755135 PTPRD Synonymous SNV N973N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 10.65 214330 chr4 71555013 71555013 T A rs762240680 UTP3 Nonsynonymous SNV L207M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 214331 chrX 55284948 55284948 T C rs368255228 PAGE3 Synonymous SNV P111P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.038 214332 chr19 33696222 33696222 G A rs754196607 LRP3 Synonymous SNV P182P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.98 214333 chr8 30921865 30921865 T C rs148758902 WRN Synonymous SNV N90N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.147 214334 chr6 106969202 106969202 T A rs144529082 CRYBG1 Synonymous SNV I965I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.116 214335 chr19 1487248 1487248 C T rs746787733 PCSK4 Synonymous SNV P249P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 214336 chr19 1816490 1816490 C A rs146587078 REXO1 Nonsynonymous SNV M1132I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 214337 chr6 109621520 109621520 C T rs537670609 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.827 214338 chr8 418738 418738 G A rs201979742 FBXO25 Synonymous SNV A270A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 214339 chr8 42176809 42176809 C T IKBKB Synonymous SNV N460N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 214340 chr6 111652942 111652942 T G rs142389657 REV3L Synonymous SNV P2657P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 9.525 214341 chr9 124971946 124971946 G T rs41273919 LHX6 Nonsynonymous SNV P153T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 214342 chr19 36603674 36603674 G A OVOL3 Nonsynonymous SNV G58S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.85 214343 chr6 112670980 112670980 C G rs376562413 RFPL4B Nonsynonymous SNV L24V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 214344 chr19 37441233 37441233 A T ZNF568 Nonsynonymous SNV N329I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 214345 chrX 110987997 110988002 CCTCCT - rs878854172 ALG13 P944_P945del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 214346 chrX 107320515 107320515 G A rs745893510 VSIG1 Synonymous SNV S356S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.272 214347 chr6 125569458 125569458 C T rs141489966 TPD52L1 Synonymous SNV H76H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.12 214348 chr19 38077531 38077531 A G rs200424031 ZNF571-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.4 214349 chr6 123130415 123130418 TTAC - rs747196247 SMPDL3A Y278Sfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 214350 chr4 88036013 88036013 G C AFF1 Nonsynonymous SNV K307N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.2 214351 chr9 127572113 127572113 C T rs144365777 OLFML2A Nonsynonymous SNV P247S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 214352 chrX 119249729 119249729 C G rs202119409 RHOXF1 Nonsynonymous SNV S15T 0.004 0 0 0 5 0 0 0 1 0 0 0 0.001 214353 chr2 242002208 242002208 A G rs199778354 SNED1 Nonsynonymous SNV E753G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21 214354 chr2 242066174 242066174 G A rs199611259 PASK Nonsynonymous SNV A719V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.7 214355 chr19 4523641 4523641 - CCCATT rs779067084 PLIN5 G430_D431insNG 0.003 0.003 0 0 3 1 0 0 0 0 0 0 214356 chr9 130566583 130566583 A G rs201597477 FPGS Nonsynonymous SNV N3S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 214357 chr19 5657323 5657331 GGAGCCTCG - rs763837372 SAFB E453_R455del 0 0.003 0 0 0 1 0 0 0 0 0 0 214358 chr6 139695070 139695070 A G rs112258792 CITED2 Synonymous SNV H4H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.004 214359 chr8 9592538 9592538 A G TNKS Nonsynonymous SNV E826G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 214360 chr5 1081838 1081838 G A rs376127373 SLC12A7 Nonsynonymous SNV A384V 0 0 0 5 0 0 0.013 0 0 0 0 0 11.46 214361 chrX 151123877 151123877 T C rs753515807 GABRE Nonsynonymous SNV N367S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 214362 chr19 42569377 42569377 G A rs755980913 GRIK5 Nonsynonymous SNV T81I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 214363 chr9 104238622 104238622 G A rs148370752 PGAP4 Synonymous SNV L251L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.62 214364 chr5 118469255 118469255 A G rs766524932 DMXL1 Nonsynonymous SNV I546V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.214 214365 chr5 118729042 118729042 G T rs748232459 TNFAIP8 Nonsynonymous SNV G178V 0 0 0 1 0 0 0.003 0 0 0 0 0 29 214366 chr6 154360391 154360391 C T OPRM1 Synonymous SNV A32A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 214367 chr5 127670910 127670910 G A rs763595235 FBN2 Nonsynonymous SNV L1309F 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.3 214368 chr5 132569162 132569162 C T FSTL4 Nonsynonymous SNV C321Y 0 0 0 2 0 0 0.005 0 0 0 0 0 29.7 214369 chr6 161455465 161455465 T C rs775147128 MAP3K4 Synonymous SNV S109S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.7 214370 chr19 46256938 46256938 G C rs748794552 BHMG1 Nonsynonymous SNV A150P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.45 214371 chr19 9066389 9066389 C T rs368170754 MUC16 Synonymous SNV S7019S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 214372 chr10 118618615 118618615 T A ENO4 Synonymous SNV P200P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.965 214373 chr10 118618621 118618621 T A ENO4 Synonymous SNV P202P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 214374 chr10 118618624 118618624 T A ENO4 Synonymous SNV P203P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 214375 chr9 140140137 140140137 C T rs61729153 FAM166A Synonymous SNV R75R 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 10.17 214376 chr6 26225612 26225612 A G HIST1H3E Nonsynonymous SNV Q77R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 214377 chr5 141357883 141357883 A G rs750074718 RNF14 Nonsynonymous SNV K108E 0 0 0 2 0 0 0.005 0 0 0 0 0 17.73 214378 chr9 2077677 2077677 C T rs763658497 SMARCA2 Synonymous SNV A695A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.52 214379 chr19 12800396 12800396 C T rs144031558 FBXW9 Nonsynonymous SNV V399M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 214380 chr9 131589342 131589342 C T rs147782094 SPOUT1 Nonsynonymous SNV V113M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 214381 chr19 50657024 50657024 G A rs117508946 IZUMO2 Synonymous SNV G221G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.7 214382 chr9 36657284 36657284 A G MELK Nonsynonymous SNV Y236C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.684 214383 chr6 38820548 38820548 A T rs145036630 DNAH8 Nonsynonymous SNV I1632L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.172 214384 chr6 41753136 41753136 G A rs35880970 PRICKLE4 Nonsynonymous SNV R147H 0 0.008 0.01 1 0 3 0.003 3 0 0 0 0 7.751 214385 chr6 41774340 41774340 G T rs111948785 USP49 Nonsynonymous SNV L128M 0 0.008 0.01 1 0 3 0.003 3 0 0 0 0 Benign 6.488 214386 chr6 41889553 41889553 C T rs142676892 BYSL Nonsynonymous SNV R85C 0 0.008 0.007 0 0 3 0 2 0 0 0 0 25.6 214387 chr10 16553116 16553116 G A rs373285172 PTER Nonsynonymous SNV R155Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 214388 chr9 137967554 137967554 T A rs370900504 OLFM1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 214389 chr5 167841537 167841537 C T rs777141260 WWC1 Nonsynonymous SNV R376W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 214390 chr9 77567414 77567414 G A rs142609348 C9orf40 Synonymous SNV P38P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 11.24 214391 chr6 43413652 43413652 G A rs62402415 ABCC10 Nonsynonymous SNV V1088M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 214392 chr19 17316802 17316802 G A rs75251420 MYO9B Nonsynonymous SNV V1700M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 214393 chr9 139371540 139371540 A T rs760327904 SEC16A Nonsynonymous SNV H176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 214394 chr5 173043352 173043352 T A rs763297939 BOD1 Nonsynonymous SNV T30S 0 0 0 2 0 0 0.005 0 0 0 0 0 5.291 214395 chr6 47251805 47251805 C T rs764174748 TNFRSF21 Nonsynonymous SNV R371Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 214396 chr9 91956347 91956347 A G rs62638733 SECISBP2 Nonsynonymous SNV Q394R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 26.3 214397 chr9 139907265 139907265 C A rs768594701 ABCA2 Synonymous SNV P1660P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 214398 chr9 139910841 139910841 G A rs200412245 ABCA2 Synonymous SNV D1002D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.904 214399 chr5 177569657 177569657 G A rs144820574 RMND5B Synonymous SNV T58T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.69 214400 chr6 51613259 51613259 - CTATGCCATGGCCAG PKHD1 I3051_D3052insAGHGI 0 0 0.003 0 0 0 0 1 0 0 0 0 214401 chr6 54002966 54002966 C G rs538997379 MLIP Nonsynonymous SNV P689R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.152 214402 chr6 56504303 56504303 G A DST Nonsynonymous SNV A398V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 214403 chr9 140400473 140400473 G C rs55782802 PNPLA7 Nonsynonymous SNV H405D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.016 214404 chr2 131520256 131520256 C T rs138907399 AMER3 Nonsynonymous SNV P204L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.002 214405 chr2 131673407 131673407 G A rs540190082 ARHGEF4 Nonsynonymous SNV A630T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.923 214406 chrX 107939545 107939545 G A rs962102528 COL4A5 Synonymous SNV T1665T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 214407 chrX 108867946 108867946 C T KCNE5 Nonsynonymous SNV E102K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.15 214408 chr5 2752393 2752393 G A C5orf38 Synonymous SNV A5A 0 0 0 3 0 0 0.008 0 0 0 0 0 10.49 214409 chr10 21805720 21805720 - TGG rs749932127 SKIDA1 H351_R352insH 0.001 0 0 0 1 0 0 0 0 0 0 0 214410 chr19 56012449 56012449 C T rs776457988 SSC5D Nonsynonymous SNV S889L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 214411 chrX 119509272 119509272 C T rs150466232 ATP1B4 Nonsynonymous SNV P203L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 214412 chr19 33119050 33119050 - AAT ANKRD27 V453_V454insF 0 0.003 0 0 0 1 0 0 0 0 0 0 214413 chr19 33119053 33119053 T A ANKRD27 Synonymous SNV S452S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 214414 chr19 33119054 33119054 - AA ANKRD27 Frameshift insertion S452Ffs*39 0 0.003 0 0 0 1 0 0 0 0 0 0 214415 chr19 33119057 33119057 G A ANKRD27 Nonsynonymous SNV P451L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 214416 chr19 33119060 33119072 TCATTCAACCTCC - ANKRD27 R447_D450del 0 0.003 0 0 0 1 0 0 0 0 0 0 214417 chr6 7886236 7886236 G A rs969762443 TXNDC5 Nonsynonymous SNV T227I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 214418 chr6 83074785 83074785 C T rs753377946 TPBG Nonsynonymous SNV S36F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 214419 chr6 88054939 88054939 G A rs113906669 C6orf163 Nonsynonymous SNV R41H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 214420 chr6 88234361 88234361 C G rs145189950 RARS2 Synonymous SNV T121T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.42 214421 chr6 85447125 85447125 T G rs111901553 TBX18 Nonsynonymous SNV N368H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.8 214422 chr9 34655631 34655631 G A rs192986483 IL11RA Nonsynonymous SNV V44M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 214423 chr6 90604916 90604916 T C rs145965891 GJA10 Synonymous SNV Y243Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 214424 chr19 36339558 36339558 A G rs114112112 NPHS1 Nonsynonymous SNV M384T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.04 214425 chr7 100283984 100283984 C A rs751018072 GIGYF1 Nonsynonymous SNV G256V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 214426 chr19 36340467 36340467 T C rs35238405 NPHS1 Nonsynonymous SNV T233A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 214427 chr2 166868749 166868749 G A rs140731963 SCN1A Nonsynonymous SNV T1250M 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 214428 chr19 36497747 36497747 C G rs77925409 SYNE4 Nonsynonymous SNV A175P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.3 214429 chr19 36594404 36594404 G A rs61743589 WDR62 Nonsynonymous SNV R1225H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 3.974 214430 chr5 56176541 56176541 C T rs372638992 MAP3K1 Synonymous SNV R697R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.71 214431 chr19 36603784 36603784 C T rs138040696 OVOL3 Synonymous SNV P94P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.28 214432 chr19 36831950 36831950 C G rs75480801 ZFP14 Nonsynonymous SNV E261Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.2 214433 chr19 37310351 37310351 G A rs1227794 ZNF790 Stop gain R299X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 214434 chr19 37369182 37369182 T C rs525345 ZNF345 Synonymous SNV L484L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.004 214435 chr19 37440739 37440739 A G rs549031 ZNF568 Synonymous SNV G164G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.986 214436 chr19 37487349 37487349 T A rs1667362 ZNF568 Nonsynonymous SNV H188Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.047 214437 chrX 18198718 18198718 G A rs776879324 BEND2 Synonymous SNV S356S 0.002 0.003 0 0 2 1 0 0 1 0 0 0 6.649 214438 chrX 18929003 18929003 G A PHKA2 Nonsynonymous SNV P738L 0.003 0.003 0 0 4 1 0 0 1 0 0 0 22.1 214439 chr19 37642776 37642776 T C rs141330972 ZNF585A Synonymous SNV S675S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.298 214440 chr3 125787054 125787054 C A rs765689136 SLC41A3 Synonymous SNV G3G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.4 214441 chr19 37677559 37677559 C T rs116737397 ZNF585B Nonsynonymous SNV G294R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 214442 chr19 37838122 37838122 T G rs35388283 ZNF875 Nonsynonymous SNV Y22D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.17 214443 chr19 37838211 37838211 C T rs115422824 ZNF875 Synonymous SNV V9V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.31 214444 chr19 38056374 38056374 C T rs61744939 ZNF571 Nonsynonymous SNV G319D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23 214445 chr19 38189734 38189734 C T rs2385006 ZNF607 Nonsynonymous SNV R432H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.14 214446 chr19 38376804 38376804 T C rs78748271 WDR87 Nonsynonymous SNV T2503A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.046 214447 chr19 38380712 38380712 G A rs79604260 WDR87 Nonsynonymous SNV S1200L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 214448 chr19 38572993 38572993 A G rs200841448 SIPA1L3 Nonsynonymous SNV N263S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 214449 chr19 38621398 38621398 C T SIPA1L3 Synonymous SNV D1043D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 214450 chr9 79323912 79323912 C T rs200283459 PRUNE2 Nonsynonymous SNV R1093Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.7 214451 chr19 38895677 38895677 C T rs74987063 FAM98C Nonsynonymous SNV T160I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.721 214452 chr9 86399635 86399635 G A rs141041688 GKAP1 Nonsynonymous SNV S186L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 214453 chr19 38976407 38976407 C T rs35352076 RYR1 Synonymous SNV G1704G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.39 214454 chr19 39003004 39003004 C T rs2915960 RYR1 Nonsynonymous SNV A3118V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 214455 chr19 39057616 39057616 G A rs2960319 RYR1 Synonymous SNV P4496P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 9.573 214456 chr19 39440666 39440666 G T rs182325006 FBXO17 Synonymous SNV R98R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 214457 chr19 39440816 39440816 G A rs112506678 FBXO17 Synonymous SNV A48A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.68 214458 chr10 6067977 6067977 C G rs55868253 IL2RA Nonsynonymous SNV D26H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 8.997 214459 chr19 39660253 39660253 C T rs114564484 PAK4 Synonymous SNV R20R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.43 214460 chr5 78938749 78938749 C G TENT2 Nonsynonymous SNV P256R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.53 214461 chr10 70333398 70333398 G A rs73276466 TET1 Nonsynonymous SNV V435I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.133 214462 chr19 40433468 40433468 G A rs557474677 FCGBP Synonymous SNV F267F 0 0.003 0 0 0 1 0 0 0 0 0 0 3.427 214463 chr5 82836537 82836537 C T rs149032014 VCAN Nonsynonymous SNV S1585L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 33 214464 chr19 41063060 41063060 G A rs1673088 SPTBN4 Synonymous SNV E483E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.401 214465 chr19 41703763 41703763 G A rs16975056 CYP2S1 Synonymous SNV G141G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.61 214466 chr7 107580752 107580752 G A rs756623178 LAMB1 Nonsynonymous SNV T1148M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 214467 chr19 41892607 41892607 G A rs36035938 EXOSC5 Synonymous SNV A213A 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.54 214468 chr19 41916547 41916547 C T rs11549935 BCKDHA Synonymous SNV P38P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 9.692 214469 chr7 11076125 11076125 A C rs774112740 PHF14 Synonymous SNV P561P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.684 214470 chr5 95234091 95234091 T C rs764210324 ELL2 Nonsynonymous SNV K460E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 214471 chr19 42880876 42880876 G A rs773571688 MEGF8 Synonymous SNV A2762A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.656 214472 chr19 44117621 44117656 AGCCGATCTAGAAGTCCCAACAAGGCAAGAGATCAT - rs781465670 SRRM5 H461_D472del 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 214473 chr10 74620266 74620266 C T rs371447187 MCU Synonymous SNV H159H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 214474 chr6 100062059 100062059 C T rs373828457 PRDM13 Synonymous SNV A516A 0 0 0 2 0 0 0.005 0 0 0 0 0 12.73 214475 chr7 128312571 128312571 C T rs762756630 FAM71F2 Synonymous SNV S40S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 214476 chr7 128488030 128488030 T C rs377258966 FLNC Synonymous SNV N1496N 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.013 214477 chr6 108535823 108535823 C T rs768919012 SNX3 Nonsynonymous SNV V56I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 214478 chrX 152585276 152585276 G T PNMA6F Nonsynonymous SNV A286E 0.002 0 0 0 2 0 0 0 1 0 0 0 1.666 214479 chr10 81927043 81927043 A T ANXA11 Nonsynonymous SNV D196E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.618 214480 chrX 21875469 21875469 C T rs772810652 YY2 Synonymous SNV G289G 0.002 0 0 3 2 0 0.008 0 1 0 0 1 12.71 214481 chr7 132412564 132412564 G A rs181666688 FLJ40288 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 214482 chr7 135258511 135258511 C G rs148613242 NUP205 Nonsynonymous SNV A94G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 214483 chr7 135272422 135272422 G A NUP205 Nonsynonymous SNV E82K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 214484 chr19 45899469 45899469 G A rs142842464 PPP1R13L Nonsynonymous SNV P287L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.9 214485 chr1 8421196 8421196 G A rs548604958 RERE Nonsynonymous SNV P237S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.342 214486 chr10 95085708 95085708 G A MYOF Synonymous SNV L1703L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 214487 chr19 46394468 46394468 G C rs201018908 MYPOP Nonsynonymous SNV P205A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.213 214488 chr1 9305024 9305024 T G rs138547645 H6PD Nonsynonymous SNV L22V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 214489 chr20 34618565 34618565 G A rs145803772 CNBD2 Nonsynonymous SNV A576T 0.005 0.003 0 3 6 1 0.008 0 0 0 0 0 14.56 214490 chr7 137567239 137567239 G A rs375939444 CREB3L2 Nonsynonymous SNV P406L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 214491 chr19 47570483 47570483 G A rs988241094 ZC3H4 Synonymous SNV R1014R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.683 214492 chr10 97096686 97096686 G C rs760310626 SORBS1 Nonsynonymous SNV D1077E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 214493 chr1 11317113 11317113 G A MTOR Synonymous SNV S127S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.58 214494 chr20 39609419 39609419 G C rs113723221 LOC100128988 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.377 214495 chr19 47912745 47912745 A G MEIS3 Synonymous SNV G202G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.126 214496 chr19 48025219 48025219 C T rs765595716 ZNF541 Synonymous SNV E1201E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.55 214497 chr2 219411755 219411755 A G rs979644801 USP37 Synonymous SNV L163L 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 8.486 214498 chr7 150490179 150490179 C T TMEM176B Synonymous SNV L162L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.283 214499 chr11 107501263 107501263 G A rs192561252 ELMOD1 Synonymous SNV P46P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.04 214500 chr7 151106541 151106541 C T rs757991903 WDR86 Synonymous SNV A45A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 214501 chr7 155174898 155174898 C G rs759891926 LOC100286906 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 214502 chr7 1786619 1786619 C T ELFN1 Nonsynonymous SNV A796V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 214503 chr6 155577918 155577918 T A rs138634139 TIAM2 Nonsynonymous SNV I515N 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 214504 chr2 233633210 233633210 C G rs1051985295 KCNJ13 Nonsynonymous SNV Q178H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.43 214505 chr7 27192150 27192150 G A rs73071596 HOXA-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 8.282 214506 chr6 159457225 159457225 G A rs145619685 TAGAP Synonymous SNV S547S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.49 214507 chr19 52400146 52400146 C T rs767962177 ZNF649 Nonsynonymous SNV R34Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 214508 chr20 62324626 62324626 G C RTEL1 Synonymous SNV L771L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.312 214509 chr1 28800629 28800629 A G rs74455757 PHACTR4 Nonsynonymous SNV R473G 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 26.6 214510 chr19 53643687 53643687 G C rs140312407 ZNF347 Synonymous SNV P799P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.132 214511 chr7 44184747 44184747 C A rs193922285 GCK Nonsynonymous SNV M125I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 214512 chr7 44561362 44561362 G A rs748641132 NPC1L1 Nonsynonymous SNV R968C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 214513 chr19 53884350 53884350 C T rs534837444 ZNF525 Nonsynonymous SNV S173L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.041 214514 chr1 14106469 14106469 C T rs749928018 PRDM2 Nonsynonymous SNV P526S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 214515 chr19 54647198 54647198 G A rs148887462 CNOT3 Synonymous SNV A38A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.71 214516 chr6 170871040 170871040 - G TBP Frameshift insertion Q53Afs*105 0 0 0 1 0 0 0.003 0 0 0 0 0 214517 chr19 54649668 54649668 C A rs746793484 CNOT3 Synonymous SNV S242S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.49 214518 chr19 55872393 55872393 C T rs185276069 FAM71E2 Nonsynonymous SNV V245I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 214519 chr19 55994742 55994742 G A rs771919851 ZNF628 Nonsynonymous SNV V728M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 214520 chr7 6075422 6075422 T C rs752791941 ANKRD61 Nonsynonymous SNV I221T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.44 214521 chr7 6661024 6661024 A G rs768041753 ZNF853 Synonymous SNV Q119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.244 214522 chr2 29217711 29217711 G A rs768249766 TOGARAM2 Nonsynonymous SNV R4H 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 214523 chr7 82584095 82584095 T C rs147497968 PCLO Synonymous SNV L2058L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.006 214524 chr6 38743592 38743592 A G rs201198707 DNAH8 Synonymous SNV G392G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.353 214525 chr7 97861128 97861128 G A rs201920447 TECPR1 Synonymous SNV H654H 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 10.36 214526 chr7 99202063 99202063 C G TMEM225B Nonsynonymous SNV P18A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 214527 chr7 99661991 99661991 C T rs772024083 ZSCAN21 Nonsynonymous SNV T357M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 214528 chr7 73183819 73183819 G A rs375337399 CLDN3 Synonymous SNV R187R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.48 214529 chr4 109086269 109086269 T C rs144228524 LEF1 Synonymous SNV R88R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.646 214530 chr7 77256376 77256376 T C rs139997435 PTPN12 Synonymous SNV H330H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.482 214531 chr6 44144042 44144042 G A rs563637491 CAPN11 Nonsynonymous SNV G323D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 29.9 214532 chr6 44222602 44222602 A G rs200262124 SLC35B2 Synonymous SNV L247L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.692 214533 chr22 24040747 24040747 G C RGL4 Nonsynonymous SNV G463A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.285 214534 chr20 3262386 3262386 T C C20orf194 Nonsynonymous SNV Q838R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 214535 chr1 85742025 85742025 G A BCL10 Nonsynonymous SNV T4I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.6 214536 chr22 26242068 26242068 G A rs747649794 MYO18B Nonsynonymous SNV E1125K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 214537 chr8 121500465 121500465 G A rs79766434 MTBP Nonsynonymous SNV R411K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.235 214538 chr6 49667582 49667582 G A rs199919095 CRISP2 Nonsynonymous SNV T69M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.542 214539 chr8 131793007 131793007 G A rs201993149 ADCY8 Nonsynonymous SNV R1129W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 214540 chr7 99081764 99081764 C T rs763531446 ZNF789 Nonsynonymous SNV P71L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 214541 chr20 17639707 17639707 A G rs13036532 RRBP1 Synonymous SNV A482A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.125 214542 chr8 133144447 133144447 A G KCNQ3 Nonsynonymous SNV F502L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 214543 chr8 133920568 133920568 G A rs192226069 TG Nonsynonymous SNV G1329S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.7 214544 chr11 36397709 36397709 - TAAGTGCAGGGCCCCCCTC rs575232531 PRR5L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 214545 chr11 36484241 36484241 G A PRR5L Synonymous SNV R226R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.438 214546 chr2 97361265 97361265 G A rs752261086 FER1L5 Nonsynonymous SNV R1254Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.72 214547 chr20 25058389 25058389 G C rs576300014 VSX1 Nonsynonymous SNV P247R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 33 214548 chr6 75833084 75833084 G C COL12A1 Nonsynonymous SNV T1139R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 214549 chr20 31812911 31812911 G A rs150349800 BPIFA3 Nonsynonymous SNV D96N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.456 214550 chr8 144906543 144906543 C T PUF60 Synonymous SNV G16G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 214551 chr6 87967056 87967056 A G ZNF292 Nonsynonymous SNV T1237A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 214552 chr20 33588250 33588250 G C MYH7B Nonsynonymous SNV A1688P 0 0.003 0 0 0 1 0 0 0 0 0 0 26 214553 chr20 34091286 34091286 C T rs200384192 CEP250 Nonsynonymous SNV R1065W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 214554 chr6 89967440 89967440 G A rs768183809 GABRR2 Synonymous SNV F449F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.87 214555 chr20 36396420 36396420 C T rs140243689 CTNNBL1 Synonymous SNV L242L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.67 214556 chr20 36405761 36405761 T C rs76396395 CTNNBL1 Synonymous SNV F255F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.265 214557 chr20 36531791 36531791 C T rs190346554 VSTM2L Synonymous SNV H13H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.09 214558 chr20 36531798 36531798 G A rs182279441 VSTM2L Nonsynonymous SNV A16T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 214559 chr20 36634717 36634717 T C rs11906826 TTI1 Synonymous SNV R795R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.362 214560 chr20 36775132 36775132 G A rs45442202 TGM2 Synonymous SNV A201A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.59 214561 chr3 113652373 113652373 A C GRAMD1C Nonsynonymous SNV S204R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 214562 chr20 39831058 39831058 G A ZHX3 Synonymous SNV G833G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.128 214563 chr8 17478582 17478582 G A rs199801810 PDGFRL Nonsynonymous SNV G126S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.414 214564 chr8 21903710 21903710 G A rs746732398 FGF17 Nonsynonymous SNV R42H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 214565 chr22 50488634 50488634 G A rs201744551 TTLL8 Nonsynonymous SNV R68W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 214566 chr20 56139619 56139619 C T rs148603002 PCK1 Nonsynonymous SNV P423L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 214567 chr8 24168890 24168890 A G rs755119147 ADAM28 Nonsynonymous SNV Q108R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 214568 chr8 25166317 25166317 C T DOCK5 Synonymous SNV Y356Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.788 214569 chr1 154321335 154321335 T C ATP8B2 Nonsynonymous SNV V1124A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.17 214570 chr20 60485616 60485616 G A rs572974573 CDH4 Nonsynonymous SNV V406I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.066 214571 chr8 27289868 27289868 G T rs139089526 PTK2B Nonsynonymous SNV G326V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.7 214572 chr8 144940811 144940811 - TGGGCCAG EPPK1 Frameshift insertion R2204Pfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 214573 chr8 144940816 144940816 - GCAGG EPPK1 Frameshift insertion G2203Lfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 214574 chr8 144940820 144940820 - CGGGGC EPPK1 L2200_E2201insGP 0.001 0 0 0 1 0 0 0 0 0 0 0 214575 chr8 144940825 144940825 - A EPPK1 Frameshift insertion L2200Pfs*210 0.001 0 0 0 1 0 0 0 0 0 0 0 214576 chrX 11316942 11316942 T G rs753460403 AMELX Nonsynonymous SNV M124R 0.001 0.005 0 0 1 2 0 0 0 1 0 0 9.9 214577 chr11 55563159 55563159 G A rs149197862 OR5D14 Nonsynonymous SNV G43E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 214578 chr20 60968587 60968587 C T rs201011734 CABLES2 Synonymous SNV L263L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.491 214579 chrX 30237536 30237536 A G rs146480900 MAGEB2 Nonsynonymous SNV Y280C 0.001 0.005 0 0 1 2 0 0 0 1 0 0 12.8 214580 chr1 156737791 156737791 G A rs377700073 PRCC Synonymous SNV R76R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.713 214581 chr1 156821438 156821438 A G rs201441514 INSRR Nonsynonymous SNV Y362H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 214582 chrX 36208296 36208296 A G rs183808856 CFAP47 Nonsynonymous SNV I2102V 0.001 0.005 0 0 1 2 0 0 0 1 0 0 11.95 214583 chr7 105135685 105135685 G A rs376767889 PUS7 Nonsynonymous SNV S255F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.4 214584 chr5 44809548 44809548 C G rs146658127 MRPS30 Nonsynonymous SNV R162G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 214585 chr8 42213047 42213047 T C rs141256214 POLB Synonymous SNV N128N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.523 214586 chr20 62290775 62290775 A G rs763778752 RTEL1 Nonsynonymous SNV N7S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 214587 chr1 160970427 160970427 C T rs200382582 F11R Nonsynonymous SNV V128M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 214588 chr8 17409378 17409378 T C rs768997653 SLC7A2 Nonsynonymous SNV M313T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 214589 chr8 67062026 67062026 G C TRIM55 Nonsynonymous SNV K250N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 214590 chrX 71521633 71521633 C T rs141166950 CITED1 Synonymous SNV P174P 0.001 0.005 0 0 1 2 0 0 0 1 0 0 9.695 214591 chr7 12665449 12665449 C G SCIN Nonsynonymous SNV Q72E 0 0 0 2 0 0 0.005 0 0 0 0 0 2.911 214592 chr1 167825532 167825532 G A rs75116612 ADCY10 Nonsynonymous SNV A528V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.121 214593 chr7 129818350 129818350 A C rs140475659 TMEM209 Nonsynonymous SNV L379V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 214594 chr21 32492855 32492855 C T rs200787648 TIAM1 Nonsynonymous SNV R569Q 0.005 0.005 0 0 6 2 0 0 0 0 0 0 21.9 214595 chrX 103294668 103294668 G A rs192764452 H2BW2 Nonsynonymous SNV R42Q 0.001 0.005 0 0 1 2 0 0 0 1 0 0 17.54 214596 chr3 15115943 15115943 G A RBSN Synonymous SNV T567T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.369 214597 chrX 103499116 103499116 C T rs150207642 ESX1 Synonymous SNV E75E 0.001 0.005 0 0 1 2 0 0 0 1 0 0 8.427 214598 chr8 94752450 94752450 T C rs746456621 RBM12B-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.935 214599 chr7 131833345 131833345 A G rs374139141 PLXNA4 Nonsynonymous SNV I1574T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.6 214600 chr7 134130055 134130055 C T rs775040626 AKR1B1 Synonymous SNV L137L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.31 214601 chr21 35122612 35122612 G C rs765893804 ITSN1 Nonsynonymous SNV A171P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 214602 chr8 97342468 97342468 G A rs561447654 PTDSS1 Nonsynonymous SNV G255S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 214603 chr7 138602792 138602792 C A KIAA1549 Nonsynonymous SNV R527L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.277 214604 chrX 119388030 119388030 A C ZBTB33 Nonsynonymous SNV N254H 0.001 0.005 0 0 1 2 0 0 0 1 0 0 17.45 214605 chr9 105340615 105340615 T C rs41301539 LINC00587 0 0 0.014 0 0 0 0 4 0 0 0 0 2.466 214606 chr1 180804156 180804156 G A XPR1 Synonymous SNV K427K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.279 214607 chr11 58126407 58126407 A G rs145986808 OR5B17 Synonymous SNV L46L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.033 214608 chr1 180953875 180953875 C T rs144559091 STX6 Nonsynonymous SNV S109N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.69 214609 chrX 140993674 140993674 G C rs80336160 MAGEC1 Nonsynonymous SNV V162L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 13.02 214610 chrX 140993675 140993675 T C rs77214665 MAGEC1 Nonsynonymous SNV V162A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 10.81 214611 chr7 142574220 142574220 C T rs768664560 TRPV6 Nonsynonymous SNV V275M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.52 214612 chr7 142983221 142983221 G T rs767360375 TMEM139 Synonymous SNV R57R 0 0 0 3 0 0 0.008 0 0 0 0 0 1.149 214613 chr8 37695456 37695456 T C ADGRA2 Nonsynonymous SNV M753T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 214614 chr21 44182235 44182235 T C PDE9A Synonymous SNV N159N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.244 214615 chr9 114133982 114133982 A T ECPAS Synonymous SNV T1552T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.857 214616 chr5 93800645 93800645 C A rs538200851 KIAA0825 Nonsynonymous SNV E664D 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 214617 chr1 183192273 183192273 A C LAMC2 Nonsynonymous SNV K256T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.4 214618 chr11 64808834 64808834 - A SAC3D1 Frameshift insertion R25Kfs*61 0.003 0 0 0 4 0 0 0 0 0 0 0 214619 chr21 45556011 45556011 C T rs147740220 GATD3A, GATD3B Synonymous SNV H2H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.28 214620 chr8 57079546 57079546 T G PLAG1 Synonymous SNV P171P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.68 214621 chrX 153678426 153678426 C T rs146149675 FAM50A Synonymous SNV D293D 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Benign 14.3 214622 chr7 150498754 150498754 C T rs371746484 TMEM176A Nonsynonymous SNV A39V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.785 214623 chr9 117808797 117808797 G T TNC Nonsynonymous SNV R1673S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 214624 chr21 46900703 46900703 C T rs200106008 COL18A1 Synonymous SNV D694D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.51 214625 chr7 150644952 150644952 C T rs199473669 KCNH2 Nonsynonymous SNV G563R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.4 214626 chr7 150711187 150711187 A G NOS3 Nonsynonymous SNV Q1181R 0 0 0 2 0 0 0.005 0 0 0 0 0 17.26 214627 chr9 123550306 123550306 T C rs780984046 FBXW2 Synonymous SNV L77L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 214628 chr7 151478457 151478457 G A rs148791216 PRKAG2 Nonsynonymous SNV P39S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.651 214629 chr9 124089661 124089661 G A rs151208452 GSN Nonsynonymous SNV V606M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.2 214630 chr3 19389225 19389225 T A rs370624689 KCNH8 Nonsynonymous SNV F193L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.13 214631 chr21 47831962 47831962 C T rs758977418 PCNT Nonsynonymous SNV P1874L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.68 214632 chr11 66512291 66512299 GGCGGCGGC - C11orf80 A32_A34del 0.001 0 0 0 1 0 0 0 0 0 0 0 214633 chr11 66512299 66512299 - GGC C11orf80 A34_G35insA 0.001 0 0 0 1 0 0 0 0 0 0 0 214634 chr11 67052628 67052628 G A GRK2 Nonsynonymous SNV R625H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 214635 chr8 87520728 87520728 C G RMDN1 Nonsynonymous SNV G41A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 214636 chr22 19839281 19839281 G A rs148672676 RTL10 Synonymous SNV Y168Y 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 4.416 214637 chr22 19965512 19965512 G A rs143766205 ARVCF Nonsynonymous SNV S556L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 214638 chr9 131198035 131198035 A G rs776267066 CERCAM Nonsynonymous SNV S469G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 214639 chr7 22259531 22259531 T C rs373786814 RAPGEF5 Nonsynonymous SNV Y317C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.558 214640 chr7 24789316 24789316 A G rs773824667 GSDME Synonymous SNV N26N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.581 214641 chr9 100672339 100672339 G A rs151093371 TRMO Synonymous SNV S177S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 214642 chr9 132631233 132631233 C T rs941127240 USP20 Nonsynonymous SNV P410S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 214643 chr7 29126150 29126150 A G rs143508754 CPVL Nonsynonymous SNV F127L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 214644 chr7 29160664 29160664 A G rs147204083 CPVL Nonsynonymous SNV M5T 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 Likely benign 0.254 214645 chr11 73105645 73105645 C T rs762998294 RELT Synonymous SNV P304P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 214646 chr9 135929817 135929817 G A rs150162641 GTF3C5 Synonymous SNV P163P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 214647 chr9 136302927 136302927 T C ADAMTS13 Synonymous SNV R498R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.656 214648 chr22 28196468 28196468 T C MN1 Nonsynonymous SNV N22D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 214649 chr22 28379402 28379402 G T rs762025232 TTC28 Nonsynonymous SNV P2085T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 214650 chr1 215848821 215848821 C T rs773192157 USH2A Synonymous SNV A4144A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 214651 chr3 39118678 39118678 A G rs767836988 WDR48 Nonsynonymous SNV T234A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 214652 chr7 38791840 38791840 G C VPS41 Nonsynonymous SNV A596G 0 0 0 2 0 0 0.005 0 0 0 0 0 30 214653 chr11 65792928 65792928 G A rs141376441 CATSPER1 Nonsynonymous SNV A308V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.577 214654 chr7 43590049 43590049 G A rs199970050 HECW1 Synonymous SNV T1384T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.31 214655 chr3 4358651 4358651 G A rs60019211 SETMAR Synonymous SNV P304P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.73 214656 chr11 66307294 66307294 G A rs761716300 ZDHHC24 Synonymous SNV G187G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.673 214657 chr22 31924818 31924818 C T rs202173110 SFI1 Stop gain R79X 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 35 214658 chr11 66478074 66478074 C T rs541484241 SPTBN2 Nonsynonymous SNV R351H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 214659 chr22 31969110 31969110 G A rs776367799 SFI1 Nonsynonymous SNV V196M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 214660 chr11 66605882 66605882 C T rs776371814 C11orf80 Synonymous SNV D405D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.729 214661 chr7 45747956 45747956 A G rs750641131 ADCY1 Nonsynonymous SNV K942R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.31 214662 chr3 45963292 45963292 G A rs377154822 FYCO1 Nonsynonymous SNV R1468W 0 0 0 3 0 0 0.008 0 0 0 0 0 24.3 214663 chr11 68341664 68341664 C G rs547274603 PPP6R3 Nonsynonymous SNV N315K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 214664 chr11 92539656 92539656 T C rs78791720 FAT3 Synonymous SNV S3074S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.937 214665 chr9 32552878 32552878 A G rs554234544 SMIM27 Nonsynonymous SNV K42R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 214666 chr9 32984659 32984659 C T rs142133683 APTX Nonsynonymous SNV R193Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 214667 chr3 49699100 49699100 C T BSN Synonymous SNV V3274V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.204 214668 chr11 74168305 74168305 T C rs556647231 KCNE3 Nonsynonymous SNV M102V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.091 214669 chr1 22927542 22927542 G A rs772315293 EPHA8 Nonsynonymous SNV R897H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 214670 chr22 42263235 42263235 G T SREBF2 Nonsynonymous SNV R163S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 214671 chr9 35562401 35562401 G A FAM166B Nonsynonymous SNV T216I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 214672 chr9 35563190 35563190 T C rs200321682 FAM166B Nonsynonymous SNV S87G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.98 214673 chr7 71175846 71175846 G A rs373377222 GALNT17 Nonsynonymous SNV R534Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.4 214674 chr9 35753673 35753673 C T rs551634707 MSMP Nonsynonymous SNV V75M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 214675 chr5 171520938 171520938 G A rs150457499 STK10 Synonymous SNV S344S 0 0 0 2 0 0 0.005 0 0 0 0 0 1.38 214676 chr5 172362196 172362196 C T ERGIC1 Synonymous SNV Y216Y 0 0 0 2 0 0 0.005 0 0 0 0 0 11.77 214677 chr5 172744933 172744933 C A rs137947483 STC2 Nonsynonymous SNV V276F 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 214678 chr3 52554246 52554246 G A rs72947532 STAB1 Synonymous SNV L1813L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.734 214679 chr9 36199051 36199051 C T rs371078162 CLTA Nonsynonymous SNV R111C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 214680 chr22 43739204 43739204 G A rs553657787 SCUBE1 Synonymous SNV L22L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.594 214681 chr7 75864516 75864516 G A rs782766865 SRRM3 Synonymous SNV P44P 0 0.005 0 2 0 2 0.005 0 0 0 0 0 11.7 214682 chr9 37692692 37692692 A T FRMPD1 Nonsynonymous SNV E18D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 214683 chr22 44224950 44224950 G A rs781641415 SULT4A1 Synonymous SNV P244P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 214684 chr7 77885552 77885552 G A rs34937835 MAGI2 Synonymous SNV P585P 0.004 0.005 0.007 1 5 2 0.003 2 0 0 0 0 Benign 10.91 214685 chr22 45564076 45564076 C A rs143439242 NUP50 Synonymous SNV A6A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.54 214686 chr7 87133685 87133685 A G rs146398820 ABCB1 Synonymous SNV N1239N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.229 214687 chr9 77257609 77257609 T A rs144622748 RORB Nonsynonymous SNV M183K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 214688 chr9 88247630 88247630 G A AGTPBP1 Synonymous SNV H706H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.199 214689 chr22 50657782 50657782 C T TUBGCP6 Synonymous SNV Q1473Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.745 214690 chr9 92002518 92002518 G A rs549309784 SEMA4D Synonymous SNV I371I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.514 214691 chr9 94486820 94486820 C T rs374939956 ROR2 Synonymous SNV S652S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 214692 chr22 50945421 50945421 C T rs749244193 LMF2 Synonymous SNV L21L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.61 214693 chr1 33832730 33832730 G C rs139330053 PHC2 Synonymous SNV P292P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.319 214694 chrX 2836013 2836013 C G ARSD Nonsynonymous SNV G232A 0 0.005 0 0 0 2 0 0 0 1 0 0 0.075 214695 chrX 9905466 9905466 C T rs368647776 SHROOM2 Nonsynonymous SNV R129C 0 0.005 0 0 0 2 0 0 0 1 0 0 7.898 214696 chrUn_gl000220 122007 122007 C T LOC100507412 0 0 0.017 0 0 0 0 5 0 0 0 0 214697 chrX 24712099 24712099 C T rs760997065 POLA1 Synonymous SNV D7D 0 0.005 0 0 0 2 0 0 0 1 0 0 14.36 214698 chr9 139324201 139324201 G A rs142759730 INPP5E Nonsynonymous SNV R620W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 214699 chrX 107846273 107846273 C T COL4A5 Synonymous SNV P742P 0 0 0.007 0 0 0 0 2 0 0 1 0 6.535 214700 chr3 9985733 9985733 T C rs145254645 CRELD1 Nonsynonymous SNV L403P 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 214701 chrX 129162677 129162677 C A rs746063839 BCORL1 Nonsynonymous SNV N1382K 0 0 0.007 0 0 0 0 2 0 0 1 0 23.4 214702 chr4 10084774 10084774 G A rs376187962 WDR1 Synonymous SNV N216N 0 0 0 2 0 0 0.005 0 0 0 0 0 10.12 214703 chr8 110416908 110416908 T C rs201899109 PKHD1L1 Nonsynonymous SNV I500T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 214704 chr1 43917335 43917335 C T rs2297686 HYI Synonymous SNV E203E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.22 214705 chr2 20939835 20939835 G A rs755845559 LDAH Nonsynonymous SNV P70L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.257 214706 chrX 84510623 84510623 A C rs764121622 ZNF711 Nonsynonymous SNV Q146H 0 0.005 0 0 0 2 0 0 0 1 0 0 0.39 214707 chr8 120942089 120942089 A G DEPTOR Synonymous SNV K112K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.169 214708 chr1 52849546 52849546 T C rs139027440 ORC1 Nonsynonymous SNV T607A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.243 214709 chr1 55608458 55608458 G C USP24 Nonsynonymous SNV S864C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 214710 chrY 14952139 14952139 C A rs766944007 USP9Y Nonsynonymous SNV T1896K 0 0 0.007 0 0 0 0 2 0 0 1 0 0.07 214711 chrX 153172121 153172121 G A rs146350208 AVPR2 Nonsynonymous SNV G352D 0 0.005 0 0 0 2 0 0 0 1 0 0 Likely benign 2.452 214712 chr12 118454658 118454658 A G rs368901773 RFC5 Nonsynonymous SNV Q9R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.28 214713 chr9 399233 399233 A G rs73382631 DOCK8 Nonsynonymous SNV N970D 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign/Likely benign 22.4 214714 chr12 121880343 121880343 G A rs200679634 KDM2B Synonymous SNV N898N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.988 214715 chr10 105194717 105194717 C T rs763430259 PDCD11 Nonsynonymous SNV P1277L 0 0 0.01 0 0 0 0 3 0 0 1 0 17.48 214716 chr8 144332429 144332429 G T rs771369832 ZFP41 Nonsynonymous SNV G139V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 214717 chr1 1271651 1271651 C A DVL1 Synonymous SNV V653V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.906 214718 chr12 122966532 122966534 CTT - rs552902860 ZCCHC8 E201del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 214719 chr12 123473355 123473355 C T rs149074091 PITPNM2 Synonymous SNV T926T 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 13.57 214720 chr12 123682864 123682864 C A rs145677970 MPHOSPH9 Nonsynonymous SNV S652I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.04 214721 chr1 2075690 2075690 C T rs768272716 PRKCZ Synonymous SNV L50L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.34 214722 chr1 2451298 2451298 G A rs34724650 PANK4 Synonymous SNV L265L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.435 214723 chr10 115392937 115392937 C T rs371646745 NRAP Nonsynonymous SNV R478H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 214724 chr9 79325571 79325571 T G rs115994981 PRUNE2 Nonsynonymous SNV D540A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.409 214725 chr1 3807359 3807359 C T rs41315256 C1orf174 Nonsynonymous SNV R131H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.69 214726 chr8 144997899 144997899 C T rs201574539 PLEC Synonymous SNV Q2052Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.114 214727 chr1 5935064 5935064 T C rs187947581 NPHP4 Nonsynonymous SNV S460G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.84 214728 chr8 145006699 145006699 C G rs374446764 PLEC Nonsynonymous SNV E602Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 214729 chr10 11973710 11973710 T C rs919689777 UPF2 Synonymous SNV Q1206Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.225 214730 chr12 49375285 49375285 C T rs751568269 WNT1 Synonymous SNV C325C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 214731 chr10 121182694 121182694 C T rs55980792 GRK5 Nonsynonymous SNV A119V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 23.9 214732 chr12 49495266 49495266 G A rs143038753 LMBR1L Stop gain R275X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 214733 chr12 130926676 130926676 C T rs774969594 RIMBP2 Synonymous SNV V390V 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 8.67 214734 chr9 96233651 96233651 A G rs368570688 FAM120A Nonsynonymous SNV I235V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 214735 chr8 145734893 145734893 G A rs1029176885 MFSD3 Synonymous SNV L59L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.604 214736 chr8 146066990 146066990 C T rs199931058 ZNF7 Synonymous SNV D70D 0 0 0 2 0 0 0.005 0 0 0 0 0 9.205 214737 chr1 10725375 10725375 C T rs746349435 CASZ1 Synonymous SNV K90K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.67 214738 chr9 990430 990430 G A rs760828413 DMRT3 Nonsynonymous SNV V282M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 214739 chrX 100169451 100169451 C T rs138995263 XKRX Nonsynonymous SNV R409H 0.005 0 0.007 6 6 0 0.015 2 1 0 1 1 23.3 214740 chr1 11147549 11147549 T C rs146890007 EXOSC10 Nonsynonymous SNV M349V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 214741 chr4 185578326 185578326 A - rs776634002 PRIMPOL I12Lfs*60 0 0 0 3 0 0 0.008 0 0 0 0 0 214742 chr10 132891547 132891547 G A rs560095047 TCERG1L Nonsynonymous SNV R547W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 214743 chr1 17395745 17395745 G C rs139624393 PADI2 Nonsynonymous SNV L598V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 214744 chr1 17982552 17982552 C T rs912875134 ARHGEF10L Nonsynonymous SNV S590L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.8 214745 chr12 3126630 3126630 G A rs117484952 TEAD4 Nonsynonymous SNV A12T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 214746 chr10 19856451 19856451 G A rs113649713 MALRD1 Synonymous SNV S1833S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.6 214747 chrX 152686168 152686168 C T rs782158604 ZFP92 Synonymous SNV A111A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.079 214748 chr8 2813124 2813124 C T rs147768119 CSMD1 Synonymous SNV S3327S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.54 214749 chr10 27332412 27332412 G A rs775226234 ANKRD26 Nonsynonymous SNV H701Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 214750 chr10 27437931 27437931 A G rs756644905 YME1L1 Synonymous SNV H24H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.978 214751 chr10 27687285 27687285 G A rs199682342 PTCHD3 Nonsynonymous SNV R748W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 214752 chr1 146751862 146751862 G T rs781830629 CHD1L Nonsynonymous SNV G364V 0 0.003 0 0 0 1 0 0 0 0 0 0 22 214753 chr10 29756521 29756521 C G SVIL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.204 214754 chr1 23279691 23279691 C T rs943729263 LACTBL1 Nonsynonymous SNV G529S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.83 214755 chr8 38034524 38034524 C T BAG4 Nonsynonymous SNV P46L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 214756 chr1 149907567 149907567 C T rs782473899 MTMR11 Synonymous SNV V58V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 214757 chr1 150933600 150933600 C T rs150892641 SETDB1 Nonsynonymous SNV A1021V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 19.58 214758 chr10 3193443 3193443 C G rs373019822 PITRM1 Synonymous SNV L546L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 6.372 214759 chr12 49952635 49952635 A G rs185991752 MCRS1 Synonymous SNV S240S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.487 214760 chr6 137322820 137322820 C T rs200592228 IL20RA Nonsynonymous SNV G402R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 214761 chr10 43697326 43697326 T C rs752681979 RASGEF1A Nonsynonymous SNV Y138C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 14.92 214762 chr8 72969168 72969168 C T rs759879377 TRPA1 Nonsynonymous SNV R393Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 214763 chr4 55964325 55964325 G A rs145905001 KDR Nonsynonymous SNV P830S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 214764 chr12 52631314 52631314 C G rs774170143 KRT7 Nonsynonymous SNV H186Q 0.003 0 0 0 3 0 0 0 0 0 0 0 7.263 214765 chr10 50190601 50190601 G T WDFY4 Nonsynonymous SNV C3179F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 214766 chr4 57307970 57307970 A G rs192831239 PAICS Nonsynonymous SNV K53R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 214767 chr10 50732318 50732318 G C rs141391984 ERCC6 Nonsynonymous SNV D386E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 214768 chr1 35579879 35579879 A G rs748913019 ZMYM1 Synonymous SNV L741L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 214769 chr8 99142206 99142206 G A rs148946525 POP1 Nonsynonymous SNV A163T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 23.2 214770 chr2 164467508 164467508 T G FIGN Synonymous SNV G267G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.235 214771 chr6 157099470 157099470 A G rs769645555 ARID1B Nonsynonymous SNV N136S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.54 214772 chr1 156714030 156714030 C T rs765965579 HDGF Synonymous SNV K154K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 214773 chr10 70101036 70101036 G T HNRNPH3 Nonsynonymous SNV A141S 0 0 0.007 0 0 0 0 2 0 0 1 0 23.7 214774 chr10 70202727 70202727 C T rs74537378 DNA2 Synonymous SNV S454S 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 15.93 214775 chr1 40105246 40105246 T C rs749319380 HEYL Nonsynonymous SNV I18V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 214776 chr10 71008235 71008235 C T rs202161330 HKDC1 Nonsynonymous SNV R441C 0 0.003 0.007 0 0 1 0 2 0 0 1 0 27.1 214777 chr4 737321 737321 A C rs201716638 PCGF3 Nonsynonymous SNV I108L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.558 214778 chr12 55641337 55641337 C T OR6C74 Nonsynonymous SNV T89I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 214779 chr1 43787367 43787367 G A rs34993202 TIE1 Nonsynonymous SNV R1064H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 214780 chr10 73822808 73822808 C T rs767416513 SPOCK2 Synonymous SNV T368T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 214781 chr1 161021491 161021491 C T rs140334248 ARHGAP30 Nonsynonymous SNV V168M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 214782 chr1 44415560 44415560 C T rs750935043 IPO13 Nonsynonymous SNV R186C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 214783 chr12 56575563 56575563 T C rs150329061 SMARCC2 Synonymous SNV E255E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.501 214784 chr10 8100594 8100594 C T rs778331735 GATA3 Synonymous SNV L190L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 214785 chr10 85981929 85981929 G A LRIT2 Nonsynonymous SNV T467I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.76 214786 chr9 116760540 116760540 T C rs937330773 ZNF618 Synonymous SNV D113D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 214787 chr9 116823354 116823354 C T rs368818970 AMBP Nonsynonymous SNV R293Q 0 0 0 2 0 0 0.005 0 0 0 0 0 1.994 214788 chr10 89621790 89621790 G C KLLN Nonsynonymous SNV P152R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 214789 chr1 169565193 169565193 G T rs574264599 SELP Nonsynonymous SNV Q691K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 214790 chr1 52499003 52499003 G A rs751687520 KTI12 Nonsynonymous SNV A144V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.753 214791 chr9 117827023 117827023 G A rs146734185 TNC Synonymous SNV D1130D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.857 214792 chr9 119097342 119097342 T C rs766150575 PAPPA Synonymous SNV P1200P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.119 214793 chr1 54653369 54653369 T A rs200739066 CYB5RL Nonsynonymous SNV I131F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 214794 chr7 5428505 5428505 A C TNRC18 Nonsynonymous SNV L317R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.731 214795 chr1 57161760 57161760 G A rs755095917 PRKAA2 Nonsynonymous SNV R239H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 214796 chr1 62263014 62263014 G A rs554320651 PATJ Nonsynonymous SNV R439Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 214797 chr9 127245044 127245044 T C rs146454575 NR5A1 Nonsynonymous SNV Q460R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.86 214798 chr1 63299751 63299751 A C rs146422144 ATG4C Nonsynonymous SNV K326Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 214799 chr12 78510661 78510661 G A rs184596477 NAV3 Nonsynonymous SNV V916I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 214800 chr1 64726374 64726374 - T UBE2U Frameshift insertion N211Kfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 214801 chr5 112824072 112824072 T C rs761343275 MCC Nonsynonymous SNV S14G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.62 214802 chr11 1017228 1017228 G T rs770792608 MUC6 Nonsynonymous SNV P1858H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 214803 chr9 130653167 130653167 G C rs368302466 ST6GALNAC6 Synonymous SNV T117T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.49 214804 chr12 85531684 85531684 T C rs61740224 LRRIQ1 Synonymous SNV I1422I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.76 214805 chr9 13119645 13119645 G A rs750354781 MPDZ Synonymous SNV N1712N 0 0 0 2 0 0 0.005 0 0 0 0 0 11.16 214806 chr5 118970057 118970057 G T FAM170A Nonsynonymous SNV G158V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.07 214807 chr1 85020695 85020695 A G rs34160527 CTBS Nonsynonymous SNV L382P 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 14.45 214808 chr11 103175330 103175330 A G rs137853026 DYNC2H1 Nonsynonymous SNV M3755V 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 26.6 214809 chr2 219509285 219509285 A C rs143333715 ZNF142 Nonsynonymous SNV L652V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.001 214810 chr2 219509773 219509773 T C rs367655099 ZNF142 Nonsynonymous SNV Q489R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 214811 chr2 220404372 220404372 G A rs374210342 CHPF Synonymous SNV A525A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.199 214812 chr11 111594834 111594834 G A rs904888673 SIK2 Nonsynonymous SNV G921E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 214813 chr1 100533721 100533721 C T MFSD14A Synonymous SNV P225P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.31 214814 chr11 11470358 11470358 C G GALNT18 Nonsynonymous SNV G121R 0 0 0.007 0 0 0 0 2 0 0 0 0 33 214815 chr1 101456121 101456121 G A rs570910160 DPH5 Nonsynonymous SNV A234V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.6 214816 chr10 32324482 32324482 A G KIF5B Synonymous SNV S310S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.916 214817 chr14 104165878 104165878 G A rs200213277 XRCC3 Synonymous SNV P199P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 214818 chr10 43609994 43609994 C T rs148935214 RET Nonsynonymous SNV S395L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 214819 chr13 25029210 25029210 A G rs74543435 PARP4 Synonymous SNV H901H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.141 214820 chr13 25486200 25486200 T C rs34177811 CENPJ Nonsynonymous SNV E151G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.2 214821 chr13 25486977 25486977 C G rs7336216 CENPJ Nonsynonymous SNV D63H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.5 214822 chr1 210637989 210637989 G A rs61744143 HHAT Nonsynonymous SNV G196R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 34 214823 chr1 112309353 112309353 C T DDX20 Synonymous SNV T769T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.461 214824 chr11 123886913 123886913 T C OR10G4 Nonsynonymous SNV V211A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 214825 chr11 123994431 123994431 G C VWA5A Nonsynonymous SNV A362P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 214826 chr1 119575563 119575563 C T rs563341344 WARS2 Nonsynonymous SNV E352K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.4 214827 chr1 150443388 150443388 C G rs372333137 RPRD2 Nonsynonymous SNV S629C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 214828 chr13 47469796 47469796 G A rs779991888 HTR2A Synonymous SNV A82A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.39 214829 chr11 126136100 126136100 T C SRPRA Nonsynonymous SNV Q277R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 214830 chr11 126343344 126343344 C T rs372003906 KIRREL3 Nonsynonymous SNV V151I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 214831 chr11 129747280 129747280 T C rs200767687 NFRKB Synonymous SNV V529V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 214832 chr5 151784057 151784057 G A rs143837854 NMUR2 Synonymous SNV V206V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.459 214833 chr5 151784058 151784058 A T rs151084376 NMUR2 Nonsynonymous SNV V206D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 214834 chr11 134027868 134027868 G A rs150526752 NCAPD3 Nonsynonymous SNV P1377S 0 0 0.007 0 0 0 0 2 0 0 1 0 7.487 214835 chr11 1477625 1477625 C T rs758270569 BRSK2 Synonymous SNV A572A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.04 214836 chr13 77532091 77532091 T A ACOD1 Nonsynonymous SNV C473S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.365 214837 chr1 154320946 154320946 G A rs368404389 ATP8B2 Nonsynonymous SNV V1095I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.51 214838 chr9 5022007 5022007 C T rs770579392 JAK2 Nonsynonymous SNV T7M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.9 214839 chr1 156146631 156146631 T C SEMA4A Nonsynonymous SNV L578P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 214840 chr1 156708204 156708204 G A rs369210909 MRPL24 Synonymous SNV A70A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 214841 chr11 2190984 2190984 C T TH Nonsynonymous SNV A70T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.21 214842 chr5 176951402 176951402 G A rs747110286 FAM193B Nonsynonymous SNV R694W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 214843 chr5 176951612 176951612 G A FAM193B Synonymous SNV L624L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.937 214844 chr9 84235416 84235416 T C rs753299284 TLE1 Synonymous SNV G227G 0 0 0 2 0 0 0.005 0 0 0 0 0 1.652 214845 chr5 178413549 178413549 G A rs142931622 GRM6 Nonsynonymous SNV T569M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 27.5 214846 chr11 33563400 33563400 C T rs193095062 KIAA1549L Synonymous SNV P97P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.247 214847 chr1 167064103 167064104 AC - rs769678635 DUSP27 T7Rfs*29 0 0 0 1 0 0 0.003 0 0 0 0 0 214848 chr11 397603 397603 G A rs765938659 PKP3 Nonsynonymous SNV V337M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 214849 chrX 100653420 100653420 C A rs28935490 GLA Nonsynonymous SNV D313Y 0.002 0.005 0.007 1 2 2 0.003 2 1 1 0 0 Conflicting interpretations of pathogenicity, other 24.6 214850 chrX 103499031 103499031 - CAGGGGCGGCTCCTCCTGCTGTTGCTCCGGCTTGGT ESX1 L103_L104insTKPEQQQEEPPL 0 0.005 0 1 0 2 0.003 0 0 1 0 0 214851 chr11 4510357 4510357 C T rs376395151 OR52K1 Nonsynonymous SNV S76F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 214852 chr1 173840173 173840173 A C ZBTB37 Nonsynonymous SNV E270D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.906 214853 chr7 107732148 107732148 C T rs200540845 LAMB4 Nonsynonymous SNV G542S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 214854 chrX 114881975 114881975 T C PLS3 Synonymous SNV T539T 0 0.005 0 1 0 2 0.003 0 0 1 0 0 7.702 214855 chr11 47469680 47469680 G A rs770633491 RAPSN Nonsynonymous SNV T72M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 214856 chr7 112724207 112724207 A T GPR85 Synonymous SNV L190L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 214857 chr11 47603656 47603656 T A NDUFS3 Stop gain L133X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 214858 chrX 128674722 128674722 C T rs61752970 OCRL Nonsynonymous SNV T14I 0 0.005 0.007 2 0 2 0.005 2 0 1 0 0 Benign/Likely benign 20.8 214859 chr7 122635565 122635565 G A rs774176151 TAS2R16 Synonymous SNV L42L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.728 214860 chr7 124482897 124482897 T C rs143635917 POT1 Nonsynonymous SNV Q245R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 214861 chr14 77327061 77327061 T A rs146030489 LRRC74A Nonsynonymous SNV M377K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 214862 chr14 25102248 25102248 C T rs759571695 GZMB Nonsynonymous SNV E14K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 214863 chr14 51107484 51107484 C T rs140126177 SAV1 Nonsynonymous SNV A312T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 214864 chrX 16170699 16170699 G A rs777024531 GRPR Synonymous SNV K362K 0 0 0 3 0 0 0.008 0 0 0 0 1 Likely benign 11.25 214865 chr7 143095478 143095478 C A rs751886971 EPHA1 Nonsynonymous SNV W467L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 214866 chr1 204092081 204092081 C A rs752125027 SOX13 Nonsynonymous SNV P375H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 214867 chr1 204218340 204218340 C T rs545905230 PLEKHA6 Nonsynonymous SNV R549Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.9 214868 chr7 149513141 149513141 C T rs117362932 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 18.65 214869 chr11 10800579 10800579 A G rs35023148 CTR9 Nonsynonymous SNV E1126G 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 18.53 214870 chrX 49855035 49855035 T C rs781994924 CLCN5 Synonymous SNV T599T 0 0 0 3 0 0 0.008 0 0 0 0 1 0.667 214871 chr15 23086346 23086346 G C NIPA1 Nonsynonymous SNV S22R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 214872 chrX 63410203 63410203 T C AMER1 Synonymous SNV P988P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 214873 chrX 68749709 68749709 C T rs147419591 FAM155B Synonymous SNV T443T 0 0.005 0 3 0 2 0.008 0 0 1 0 1 14.21 214874 chrX 79282760 79282760 G A rs150811689 TBX22 Synonymous SNV T148T 0 0 0 3 0 0 0.008 0 0 0 0 1 Benign 10.69 214875 chr15 36984330 36984330 A G rs770418040 C15orf41 Nonsynonymous SNV I107V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 214876 chr5 93727227 93727245 GCCGTTTCCCTACCTCATT - rs766167375 KIAA0825 N1151_E1152del 0 0 0 3 0 0 0.008 0 0 0 0 0 214877 chr5 94820499 94820499 A T TTC37 Nonsynonymous SNV S1328T 0 0 0 2 0 0 0.005 0 0 0 0 0 19.62 214878 chr11 118461150 118461150 A T ARCN1 Nonsynonymous SNV I217F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 214879 chr10 101969374 101969374 G A CHUK Nonsynonymous SNV S369F 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 214880 chr3 112282380 112282380 - AAAACAAGTATGATTATCTTCCAACTACTGTGAATGTGTGCTCAGAACTGGTGAAGCTAGTTTTCT SLC35A5 Stop gain C66_F424del 0.001 0 0 0 1 0 0 0 0 0 0 0 214881 chr1 226032919 226032919 G A rs45540739 EPHX1 Synonymous SNV V413V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 6.416 214882 chr11 5878694 5878694 G A OR52E8 Nonsynonymous SNV S80F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 214883 chr3 122512486 122512486 C T HSPBAP1 Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 214884 chr11 61018728 61018728 A G PGA5 Nonsynonymous SNV Q381R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 214885 chr10 118620647 118620647 A C rs757784533 ENO4 Synonymous SNV L294L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.31 214886 chr1 233135047 233135047 G A PCNX2 Nonsynonymous SNV R1803C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 214887 chr1 234603278 234603278 C T rs775646970 TARBP1 Synonymous SNV K406K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 214888 chr11 62186582 62186582 C - rs200870426 SCGB1A1 T6Pfs*50 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 214889 chr11 13732258 13732258 A G rs149868108 FAR1 Synonymous SNV L188L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.01 214890 chr1 241767708 241767708 C T rs2273712 OPN3 Nonsynonymous SNV V183I 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 2.421 214891 chr10 124922243 124922243 G A BUB3 Synonymous SNV T290T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.147 214892 chr15 34654406 34654406 C T rs144011888 LPCAT4 Nonsynonymous SNV R334Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 214893 chr11 639650 639650 - CGTGGC rs751106635 DRD4 V139_P140insAV 0 0 0.003 0 0 0 0 1 0 0 0 0 214894 chr1 248308691 248308691 T C OR2M5 Nonsynonymous SNV M81T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.3 214895 chr6 150690343 150690343 A G IYD Nonsynonymous SNV E59G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.23 214896 chr10 13699322 13699322 G A rs749376126 FRMD4A Nonsynonymous SNV S447L 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 214897 chr15 45386800 45386800 G A rs556008835 DUOX2 Synonymous SNV F1495F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.15 214898 chr2 1890344 1890344 C T MYT1L Nonsynonymous SNV R893Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 214899 chr11 27378973 27378973 G A rs147823135 CCDC34 Nonsynonymous SNV R159W 0.003 0 0 3 3 0 0.008 0 0 0 0 0 35 214900 chr2 3691362 3691362 T - COLEC11 V83Gfs*21 0 0 0 1 0 0 0.003 0 0 0 0 0 214901 chr2 8871015 8871015 G A rs368542023 KIDINS220 Synonymous SNV S1661S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.262 214902 chr11 31115637 31115637 G A rs753311306 DCDC1 Nonsynonymous SNV S693L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.549 214903 chr6 157963631 157963631 C T rs763920977 ZDHHC14 Nonsynonymous SNV A87V 0 0 0 3 0 0 0.008 0 0 0 0 0 20.8 214904 chr2 11928520 11928520 A T rs751535374 LPIN1 Nonsynonymous SNV N515Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.6 214905 chr2 20647412 20647412 C T rs201522561 RHOB Synonymous SNV G62G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.894 214906 chr11 73074798 73074798 C T rs200301384 ARHGEF17 Synonymous SNV H1751H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.68 214907 chr11 73748654 73748654 G A rs111412489 C2CD3 Nonsynonymous SNV T1917M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.731 214908 chr2 27677499 27677499 G A rs139223261 IFT172 Nonsynonymous SNV R1134W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 214909 chr11 46388861 46388861 G C DGKZ Nonsynonymous SNV G61A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 214910 chr11 74985162 74985162 G A rs770962782 ARRB1 Synonymous SNV D290D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.73 214911 chr11 47183108 47183108 C G rs765498677 C11orf49 Synonymous SNV P296P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 214912 chr15 90744778 90744778 G C rs773789038 SEMA4B Nonsynonymous SNV E43Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.093 214913 chr11 77907381 77907381 G A USP35 Synonymous SNV R30R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.613 214914 chr2 37454712 37454712 C T rs769231032 CEBPZ Nonsynonymous SNV D542N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.33 214915 chr10 48371305 48371305 C T rs781822035 ZNF488 Nonsynonymous SNV S258L 0 0 0 2 0 0 0.005 0 0 0 0 0 30 214916 chr8 141285757 141285757 C G rs749556580 TRAPPC9 Nonsynonymous SNV E751Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24 214917 chr11 800996 800996 T A PIDD1 Synonymous SNV T585T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.72 214918 chr2 47637423 47637423 A G rs151129360 MSH2 Nonsynonymous SNV N186S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 214919 chr2 48027999 48027999 C T rs781734958 MSH6 Synonymous SNV R829R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.95 214920 chr10 50818960 50818960 C T rs770631008 SLC18A3 Synonymous SNV P58P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.94 214921 chr15 79606341 79606341 C T TMED3 Synonymous SNV L137L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.87 214922 chr2 54135958 54135958 G T PSME4 Nonsynonymous SNV H864Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.29 214923 chr15 85402597 85402597 G A rs746125587 ALPK3 Nonsynonymous SNV R1314H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 214924 chr11 94862231 94862238 CTCATGGG - ENDOD1 M332Hfs*36 0 0 0.007 0 0 0 0 2 0 0 0 0 214925 chr11 94862249 94862249 A T ENDOD1 Nonsynonymous SNV T337S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 214926 chr2 65541044 65541044 C T rs144709078 SPRED2 Nonsynonymous SNV R280H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 214927 chr12 10084924 10084926 ATC - rs753079869 CLEC2A Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 214928 chr2 70901925 70901925 G A ADD2 Synonymous SNV D542D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.19 214929 chr15 89698695 89698695 G A ABHD2 Synonymous SNV R156R 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.54 214930 chr2 74688571 74688571 T C rs775094626 MOGS Nonsynonymous SNV K782R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 4.231 214931 chr15 91430523 91430523 C T rs568342645 FES Synonymous SNV H139H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.35 214932 chr10 73537646 73537646 C T rs377269771 CDH23 Synonymous SNV I1685I 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.41 214933 chr10 73767882 73767882 C T CHST3 Nonsynonymous SNV R365C 0 0 0 2 0 0 0.005 0 0 0 0 0 34 214934 chr12 109683489 109683489 C G rs747111652 ACACB Nonsynonymous SNV T1746S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 214935 chr2 88885372 88885372 G A EIF2AK3 Nonsynonymous SNV P395L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 214936 chr2 96803404 96803404 C T rs753631127 ASTL Nonsynonymous SNV A31T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 214937 chr11 56020433 56020433 T A rs367575352 OR5T3 Stop gain L253X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 214938 chr6 49459927 49459927 C G rs144734447 CENPQ Stop gain S249X 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 36 214939 chr12 113645793 113645793 A G IQCD Nonsynonymous SNV I60T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 214940 chr16 28488944 28488944 G T rs146610181 CLN3 Nonsynonymous SNV H304N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 214941 chr12 117723115 117723115 G T rs200231850 NOS1 Nonsynonymous SNV T102N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 214942 chr12 118575902 118575902 C T rs199837201 PEBP1 Nonsynonymous SNV T65I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 214943 chr12 120214511 120214511 G A rs774424489 CIT Nonsynonymous SNV R601W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 214944 chr10 91469785 91469785 C T rs376662889 KIF20B Synonymous SNV Y151Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.06 214945 chr2 103142748 103142748 T G rs746182972 SLC9A4 Nonsynonymous SNV Y661D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.85 214946 chr2 107459680 107459680 G C rs374874543 ST6GAL2 Nonsynonymous SNV L252V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.3 214947 chr12 124099808 124099808 G C rs779612292 DDX55 Nonsynonymous SNV G301R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 214948 chr12 124387487 124387487 C T rs61734931 DNAH10 Synonymous SNV A3096A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 8.065 214949 chr10 97402858 97402858 C A rs142746793 ALDH18A1 Nonsynonymous SNV S65I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.5 214950 chr12 124417957 124417957 C T DNAH10 Nonsynonymous SNV A4341V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 214951 chr12 124419971 124419971 G A rs199968146 DNAH10 Synonymous SNV T4453T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 10.04 214952 chr2 120725546 120725546 C G rs773756415 PTPN4 Nonsynonymous SNV P898A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.47 214953 chr10 99079220 99079220 C G rs761441163 FRAT1 Nonsynonymous SNV R4G 0 0 0 2 0 0 0.005 0 0 0 0 0 22.3 214954 chr2 128400566 128400566 G A rs199563092 LIMS2 Synonymous SNV I147I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.95 214955 chr4 66218805 66218805 G A rs200235221 EPHA5 Synonymous SNV I730I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.82 214956 chr11 56950153 56950153 A G rs762406251 LRRC55 Synonymous SNV T219T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 214957 chr2 152321156 152321156 C T RIF1 Nonsynonymous SNV L1708F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.47 214958 chr2 239049642 239049642 G A rs201253372 KLHL30 Nonsynonymous SNV V83M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.169 214959 chr12 32908332 32908332 G A rs774325742 YARS2 Synonymous SNV F159F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.57 214960 chr11 60184404 60184404 C T rs149015522 MS4A14 Stop gain Q638X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 214961 chr12 3789489 3789489 G A CRACR2A Synonymous SNV S85S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 214962 chr12 48081719 48081719 T C RPAP3 Synonymous SNV G109G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 214963 chr9 114982652 114982652 C T rs10981319 PTBP3 Nonsynonymous SNV G482S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.76 214964 chr12 48298355 48298355 C T VDR Nonsynonymous SNV G20E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.64 214965 chr2 171702267 171702267 A G GAD1 Nonsynonymous SNV N307D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 214966 chr2 171704208 171704208 A G rs144099065 GAD1 Nonsynonymous SNV N342S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 214967 chr2 173337618 173337618 G A rs74728869 ITGA6 Nonsynonymous SNV G140S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.6 214968 chr11 1104170 1104170 C T rs376041960 MUC2 Synonymous SNV I2787I 0 0 0 2 0 0 0.005 0 0 0 0 0 14.73 214969 chr16 48248923 48248923 T C ABCC11 Nonsynonymous SNV R373G 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 214970 chr2 173420945 173420945 G C rs760469835 PDK1 Nonsynonymous SNV G23R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.108 214971 chr2 173883493 173883493 G A rs369238861 RAPGEF4 Synonymous SNV G486G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 4.462 214972 chr2 174946725 174946725 C T rs145357368 OLA1 Nonsynonymous SNV A108T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.93 214973 chr12 49375297 49375297 C T WNT1 Synonymous SNV C329C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 214974 chr12 49424681 49424681 T C KMT2D Nonsynonymous SNV K4556E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.53 214975 chr11 117052225 117052225 T C rs759272095 SIDT2 Nonsynonymous SNV F93L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 214976 chr2 179554047 179554047 T C rs774026601 TTN Nonsynonymous SNV K9417E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.64 214977 chr11 64676568 64676568 C T rs753846895 ATG2A Synonymous SNV P753P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 214978 chr11 118127983 118127983 A G rs201821130 MPZL2 Synonymous SNV Y210Y 0 0 0.003 3 0 0 0.008 1 0 0 0 0 0.163 214979 chr2 179981440 179981440 C T rs76833045 SESTD1 Synonymous SNV T534T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 18.24 214980 chr12 53162818 53162818 A C KRT76 Nonsynonymous SNV S532R 0 0 0.007 0 0 0 0 2 0 0 0 0 4.509 214981 chr2 184025810 184025810 A G NUP35 Nonsynonymous SNV K311R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 214982 chr12 53298602 53298602 C G rs57282588 KRT8 Nonsynonymous SNV G55A 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 0.059 214983 chr16 67980400 67980400 A G SLC12A4 Nonsynonymous SNV L795P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 214984 chr12 53668651 53668651 A G ESPL1 Synonymous SNV K519K 0 0 0.007 0 0 0 0 2 0 0 0 0 8.605 214985 chr12 53825064 53825064 A G rs759395736 AMHR2 Nonsynonymous SNV H415R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.566 214986 chr16 69681086 69681086 G A NFAT5 Nonsynonymous SNV V119I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.2 214987 chr16 69967957 69967957 G A rs545118129 WWP2 Synonymous SNV L150L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.18 214988 chr16 70506944 70506944 C T rs777577639 FCSK Nonsynonymous SNV R489C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 214989 chr16 72166823 72166823 A T rs756492066 PMFBP1 Nonsynonymous SNV L424H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 214990 chr11 67206224 67206224 G A rs142509476 CORO1B Nonsynonymous SNV P421L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 214991 chr11 67263771 67263771 G A rs770744580 PITPNM1 Nonsynonymous SNV A731V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 214992 chr16 75563835 75563835 C T rs148051752 CHST5 Nonsynonymous SNV A150T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 214993 chr2 200803778 200803778 T C TYW5 Nonsynonymous SNV R122G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 214994 chr12 58209762 58209762 A G rs3741426 AVIL Nonsynonymous SNV I21T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 214995 chr11 68707054 68707054 G A rs149824485 IGHMBP2 Nonsynonymous SNV R946Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 214996 chr4 186533068 186533068 T C SORBS2 Nonsynonymous SNV N888D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 214997 chr12 675125 675125 C T rs564580062 NINJ2 Nonsynonymous SNV V78M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 214998 chr11 130343654 130343654 G A ADAMTS15 Nonsynonymous SNV D931N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 214999 chr12 7273217 7273217 G A rs138860772 C1RL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.117 215000 chr12 76784231 76784231 T C rs766512637 OSBPL8 Nonsynonymous SNV Y354C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 215001 chr2 218682827 218682827 C T rs954549876 TNS1 Nonsynonymous SNV G1285R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 215002 chr11 17452495 17452495 G A rs770543163 ABCC8 Synonymous SNV G561G 0 0 0 2 0 0 0.005 0 0 0 0 0 12.38 215003 chr7 17833898 17833898 A G rs763377449 SNX13 Nonsynonymous SNV I893T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 215004 chr13 100637715 100637735 GCGGCGGCGGCGGCTGCGGCG - rs761822481 ZIC2 A464_A470del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 215005 chr11 2434790 2434790 - C rs775411657 TRPM5 Frameshift insertion D640Gfs*30 0 0 0 1 0 0 0.003 0 0 0 0 0 215006 chr11 34472581 34472581 C G rs762410549 CAT Synonymous SNV S95S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.672 215007 chr5 56177867 56177867 C - MAP3K1 T947Kfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 215008 chr5 56177869 56177870 AC - MAP3K1 T948Nfs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 215009 chr12 10658617 10658617 A T rs762335423 EIF2S3B Nonsynonymous SNV Q39L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 215010 chr5 56178165 56178165 T C MAP3K1 Synonymous SNV F1046F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.486 215011 chr5 56558443 56558443 A G rs199892864 GPBP1 Nonsynonymous SNV K436R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.5 215012 chr12 109838926 109838926 G T rs200532551 MYO1H Nonsynonymous SNV S184I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.8 215013 chr11 44129781 44129781 G C rs148121594 EXT2 Synonymous SNV A206A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 3.655 215014 chr13 41947864 41947864 T C rs141335415 NAA16 Synonymous SNV F749F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.3 215015 chr12 112457665 112457665 G A ERP29 Nonsynonymous SNV D84N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 215016 chr2 242681874 242681874 C T rs745891471 D2HGDH Synonymous SNV A125A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.65 215017 chr11 46880599 46880599 G A rs147138337 LRP4 Stop gain R1885X 0 0 0 1 0 0 0.003 0 0 0 0 0 49 215018 chr5 14487668 14487668 G A rs1009798604 TRIO Nonsynonymous SNV G2311S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 215019 chr7 5529438 5529438 T G rs529054546 FBXL18 X802Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.208 215020 chr17 26962130 26962130 C T rs61741922 KIAA0100 Synonymous SNV S682S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.07 215021 chr17 27425854 27425854 C T rs76590796 MYO18A Nonsynonymous SNV R1257Q 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 Likely benign 35 215022 chr3 10242070 10242070 A G rs55898544 IRAK2 Nonsynonymous SNV I99V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 215023 chr3 10251288 10251288 G C rs56053222 IRAK2 Nonsynonymous SNV R147T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.229 215024 chr3 10276196 10276196 G A rs56197044 IRAK2 Synonymous SNV R442R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.776 215025 chr14 103871488 103871488 A G rs147319070 MARK3 Nonsynonymous SNV I43V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 215026 chr14 104208379 104208379 C T rs201252881 PPP1R13B Nonsynonymous SNV V524I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 215027 chr14 105206110 105206110 G A rs143062280 ADSS1 Nonsynonymous SNV D145N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.1 215028 chr3 31621511 31621511 A G STT3B Nonsynonymous SNV I212V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 215029 chr14 20903461 20903461 C A rs985272081 KLHL33 Nonsynonymous SNV E170D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 215030 chr17 3729389 3729389 C T rs964846050 NCBP3 Nonsynonymous SNV R201K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.879 215031 chr12 131471883 131471883 C T rs201053759 ADGRD1 Nonsynonymous SNV T245I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 215032 chr12 133448936 133448936 T C rs145622325 CHFR Nonsynonymous SNV Q93R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 215033 chr3 39433410 39433410 C T rs368788683 SLC25A38 Nonsynonymous SNV R175W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 215034 chr17 39506879 39506879 G C rs138426451 KRT33A Nonsynonymous SNV F47L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 215035 chr11 55606293 55606293 C G rs773721089 OR5D16 Stop gain Y22X 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 215036 chr3 44974685 44974685 T C rs145026580 ZDHHC3 Nonsynonymous SNV I179V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 215037 chr14 38295539 38295539 A G TTC6 Nonsynonymous SNV N339S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 215038 chr17 42457510 42457510 C T rs780837520 ITGA2B Nonsynonymous SNV E538K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 215039 chr3 48718986 48718988 CTT - rs765040855 NCKIPSD E275del 0 0 0 1 0 0 0.003 0 0 0 0 0 215040 chr8 126088723 126088723 G A rs759414886 WASHC5 Nonsynonymous SNV P96L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 25.6 215041 chr5 148715275 148715275 A T AFAP1L1 Nonsynonymous SNV Q725L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 215042 chr3 49940117 49940117 C G rs150736542 MST1R Nonsynonymous SNV R309P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 215043 chr5 149583302 149583304 TCT - SLC6A7 F390del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 215044 chr14 60005426 60005426 G C rs199705903 CCDC175 Nonsynonymous SNV N496K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.288 215045 chr14 60923727 60923727 A G rs779949517 C14orf39 Synonymous SNV S422S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.327 215046 chr10 104210413 104210413 C T rs755298539 C10orf95 Synonymous SNV R146R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 215047 chr12 49993467 49993467 T C rs551377200 FAM186B Nonsynonymous SNV I652M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.046 215048 chr12 49994537 49994537 G C rs776273920 FAM186B Nonsynonymous SNV Q296E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.491 215049 chr11 57080431 57080431 G A TNKS1BP1 Synonymous SNV G577G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.561 215050 chr11 57576819 57576819 G A rs764212158 CTNND1 Synonymous SNV E665E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.94 215051 chr3 56763573 56763573 T G rs147084142 ARHGEF3 Nonsynonymous SNV N442H 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 215052 chr12 52435617 52435617 G A rs749363717 NR4A1 Nonsynonymous SNV G22S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 215053 chr12 52629092 52629092 G A rs143703930 KRT7 Nonsynonymous SNV G160S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 215054 chr14 75265659 75265659 A G YLPM1 Nonsynonymous SNV D1220G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 215055 chr4 2332616 2332616 C T rs577071133 ZFYVE28 Synonymous SNV P287P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.72 215056 chr14 78043235 78043235 C G rs75565823 SPTLC2 Nonsynonymous SNV G169A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.656 215057 chr14 88414195 88414195 G A GALC Synonymous SNV L433L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.891 215058 chr3 100071332 100071332 C T rs112096266 NIT2 Synonymous SNV T223T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 215059 chr14 94914884 94914884 C T rs147649377 SERPINA11 Synonymous SNV S76S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.901 215060 chr8 17163465 17163465 A T rs144206696 MTMR7 Nonsynonymous SNV Y385N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.6 215061 chr14 95236179 95236179 G A rs545878999 GSC Synonymous SNV Y58Y 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 4.475 215062 chr6 348938 348938 C T rs571363943 DUSP22 Nonsynonymous SNV T202M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.792 215063 chr12 56547781 56547781 G A rs185618467 MYL6B Nonsynonymous SNV A27T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 215064 chr6 3010295 3010295 C T rs374673090 NQO2 Nonsynonymous SNV P15L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 215065 chr6 3019927 3019927 G T rs6955 HTATSF1P2 0.001 0 0 0 1 0 0 0 0 0 0 0 4.227 215066 chr11 6261701 6261701 C G rs117364457 CNGA4 Nonsynonymous SNV T226R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.8 215067 chr12 57627682 57627682 G A rs781006721 SHMT2 Nonsynonymous SNV R415Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 215068 chr17 66899468 66899473 CTTTAA - rs772630941 ABCA8 L816_K817del 0.002 0 0 0 2 0 0 0 0 0 0 0 215069 chr12 57884149 57884149 C T rs759101321 MARS1 Nonsynonymous SNV T217I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.94 215070 chr3 119133590 119133590 G T rs201519258 ARHGAP31 Nonsynonymous SNV Q938H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 0.001 215071 chr15 29561868 29561868 C G rs547945176 NSMCE3 Nonsynonymous SNV Q14H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.815 215072 chr15 29561869 29561869 T G rs567740694 NSMCE3 Nonsynonymous SNV Q14P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.167 215073 chr11 64119724 64119724 G T rs150446546 CCDC88B Synonymous SNV L1074L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.292 215074 chr15 31862247 31862247 A C OTUD7A Nonsynonymous SNV L102R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 215075 chr3 122345682 122345682 G A rs151244693 PARP15 Nonsynonymous SNV G180R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 215076 chr12 6665006 6665006 T C rs746947299 IFFO1 Nonsynonymous SNV M64V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 215077 chr11 65307098 65307098 C T rs371428846 LTBP3 Synonymous SNV G1019G 0 0 0 2 0 0 0.005 0 0 0 0 0 7.909 215078 chr15 40509781 40509781 G C rs28989183 BUB1B Nonsynonymous SNV Q921H 0 0.003 0.007 0 0 1 0 2 0 0 1 0 Uncertain significance 12.14 215079 chr15 40629599 40629599 G A rs375937138 CCDC9B Synonymous SNV G288G 0 0 0.007 0 0 0 0 2 0 0 1 0 6.302 215080 chr15 40751986 40751986 C T rs144573633 BAHD1 Synonymous SNV S441S 0 0 0.007 0 0 0 0 2 0 0 1 0 8.703 215081 chr8 31497850 31497850 C T rs367543157 NRG1 Nonsynonymous SNV P117L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 not provided 22.4 215082 chr12 8759569 8759569 T C rs186739900 AICDA Synonymous SNV K16K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.592 215083 chr15 43817500 43817500 A G rs56321997 MAP1A Nonsynonymous SNV T1277A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 215084 chr12 89984992 89984992 A G ATP2B1 Synonymous SNV F1144F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 215085 chr8 59059012 59059012 G C FAM110B Nonsynonymous SNV V75L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 215086 chr3 132242480 132242480 G C rs10935014 DNAJC13 Nonsynonymous SNV V1995L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.1 215087 chr11 70275256 70275256 G A rs745948508 CTTN Nonsynonymous SNV R339Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 215088 chr15 58983325 58983325 T G rs766253662 HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.343 215089 chr4 83970383 83970383 T C rs141025642 COPS4 Synonymous SNV L73L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.092 215090 chr15 64275879 64275879 T C DAPK2 Nonsynonymous SNV K56R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 215091 chr3 152554244 152554244 A G rs533683001 P2RY1 Nonsynonymous SNV M225V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.9 215092 chr11 2168779 2168779 G A rs17886764 IGF2-AS 0 0 0 1 0 0 0.003 0 0 0 0 0 8.829 215093 chr11 75134852 75134852 C T rs182383726 KLHL35 Nonsynonymous SNV E483K 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 215094 chr17 79096393 79096393 G C AATK Nonsynonymous SNV P345R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 215095 chr13 111372126 111372126 C T rs948223028 ING1 Synonymous SNV D212D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 215096 chr9 102778676 102778676 A C rs151032851 ERP44 Nonsynonymous SNV F230L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.2 215097 chr3 180320736 180320736 T C rs151103043 TTC14 Synonymous SNV D73D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.707 215098 chr3 180324080 180324080 T C TTC14 Synonymous SNV H323H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.919 215099 chr13 21729290 21729290 - AGTTTTCTT SKA3 0.003 0 0 0 3 0 0 0 0 0 0 0 215100 chr3 183602544 183602544 C T rs537767723 PARL Nonsynonymous SNV A31T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.071 215101 chr11 82561002 82561002 C T rs150580514 PRCP Synonymous SNV E130E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 17.53 215102 chr11 82644262 82644262 T G rs988186672 DDIAS Nonsynonymous SNV C628G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.7 215103 chr15 79675308 79675308 A G TMED3 0 0 0.003 0 0 0 0 1 0 0 0 0 5.456 215104 chr15 80847266 80847266 A G rs143423418 LOC101929586 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.626 215105 chr11 8951029 8951029 C A rs186159848 C11orf16 Synonymous SNV G73G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.98 215106 chr11 93148168 93148168 T G rs773892619 DEUP1 Nonsynonymous SNV L509R 0.004 0 0 3 5 0 0.008 0 0 0 0 0 25.2 215107 chr15 85326089 85326089 C T rs144989451 ZNF592 Synonymous SNV P61P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.9 215108 chr11 93796759 93796759 G A rs776511758 HEPHL1 Synonymous SNV P167P 0 0 0 2 0 0 0.005 0 0 0 0 0 12.37 215109 chr9 117108157 117108157 C T rs139126761 AKNA Nonsynonymous SNV R1097Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 215110 chr12 100042560 100042560 G T FAM71C Nonsynonymous SNV S203I 0 0 0 2 0 0 0.005 0 0 0 0 0 16.63 215111 chr9 123924358 123924358 G A CNTRL Synonymous SNV Q1192Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.87 215112 chr13 50205131 50205131 C T rs115070474 ARL11 Nonsynonymous SNV A183V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 215113 chr3 197508684 197508684 A G rs141529189 FYTTD1 Synonymous SNV T287T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.536 215114 chr11 6129541 6129541 A T rs774631377 OR56B4 Nonsynonymous SNV N178I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 215115 chr4 677412 677412 C T rs756207017 SLC49A3 Nonsynonymous SNV V209M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 215116 chr15 89876828 89876842 TGCTGCTGCTGCTGC - rs796052875 POLG Q51_Q55del 0 0 0.003 0 0 0 0 1 0 0 0 0 215117 chr9 125316094 125316094 A T rs533272054 OR1N2 Nonsynonymous SNV I202F 0 0 0 3 0 0 0.008 0 0 0 0 0 24.5 215118 chr13 52661514 52661514 A G NEK5 Nonsynonymous SNV F451S 0.001 0 0 0 1 0 0 0 0 0 0 0 12 215119 chr15 90168808 90168808 T C rs777196463 TICRR Nonsynonymous SNV M1755T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.014 215120 chr18 33713245 33713245 C T rs766954544 ELP2 Synonymous SNV V61V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 215121 chr6 109563432 109563432 C T rs575705196 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 215122 chr15 90335486 90335486 G A rs76989453 ANPEP Synonymous SNV F811F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 13.68 215123 chr15 91308570 91308570 C T rs146077918 BLM Nonsynonymous SNV P707S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 215124 chr18 44774652 44774652 G A SKOR2 Synonymous SNV A301A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 215125 chr13 79190219 79190219 A C rs147894314 OBI1 Nonsynonymous SNV F559L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 215126 chr4 1801155 1801155 A G FGFR3 Nonsynonymous SNV Q95R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 215127 chr15 99454581 99454581 G A rs370500527 IGF1R Synonymous SNV T500T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 16.81 215128 chr16 113707 113707 C T rs376839826 RHBDF1 Nonsynonymous SNV G114R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 215129 chr14 101200955 101200955 C T rs141718023 DLK1 Nonsynonymous SNV L292F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 215130 chr16 12059296 12059296 C T rs550606391 TNFRSF17 Nonsynonymous SNV R39C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 215131 chr14 102452587 102452587 T C rs140154194 DYNC1H1 Synonymous SNV N675N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 0.378 215132 chr9 131262421 131262421 A G rs762408237 ODF2 Nonsynonymous SNV M837V 0 0 0 3 0 0 0.008 0 0 0 0 0 23.1 215133 chr9 131394453 131394453 C T rs558449802 SPTAN1 Synonymous SNV I2245I 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 18.85 215134 chr11 10875932 10875932 A G ZBED5 Synonymous SNV N187N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.24 215135 chr16 14029205 14029205 C G ERCC4 Synonymous SNV P472P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 215136 chr6 136562753 136562753 G A rs779720529 MTFR2 Nonsynonymous SNV R115W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.76 215137 chr14 105350540 105350540 G A rs772670141 CEP170B Nonsynonymous SNV R405Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 215138 chr16 18827710 18827710 T A rs766761664 SMG1 Nonsynonymous SNV N3406Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24 215139 chr9 135277636 135277636 T G TTF1 Nonsynonymous SNV E191D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.4 215140 chr16 20976570 20976570 G A rs144338082 DNAH3 Nonsynonymous SNV S2833L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 215141 chr5 1878552 1878552 G A rs759097651 IRX4 Nonsynonymous SNV A364V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.47 215142 chr9 136640122 136640122 G A rs7875953 VAV2 Synonymous SNV H680H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.6 215143 chr9 136726546 136726546 G A rs12342989 VAV2 Synonymous SNV S110S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 9.275 215144 chr9 138454247 138454247 C T rs145209418 PAEP Synonymous SNV P46P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 10.44 215145 chr5 13820548 13820548 C T rs201285946 DNAH5 Nonsynonymous SNV E2250K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.3 215146 chr16 2988201 2988201 G A rs371487360 FLYWCH1 Synonymous SNV L598L 0 0.003 0.01 0 0 1 0 3 0 0 0 0 9.285 215147 chr12 126128810 126128810 G A rs61748657 TMEM132B Synonymous SNV P49P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.672 215148 chr14 23871807 23871807 G C rs138572790 MYH6 Nonsynonymous SNV A336G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 23.3 215149 chr9 140115571 140115571 C T rs201379698 RNF208 Nonsynonymous SNV A32T 0 0 0 4 0 0 0.01 0 0 0 0 0 14.19 215150 chr14 24517974 24517974 T C rs61738657 DHRS4L1 Nonsynonymous SNV V79A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.48 215151 chr16 3705415 3705415 C A rs148015097 DNASE1 Nonsynonymous SNV A14E 0 0 0.007 0 0 0 0 2 0 0 0 0 16.6 215152 chr4 70864188 70864188 C G rs778986758 STATH Nonsynonymous SNV L12V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 215153 chr9 15587635 15587635 C T rs560549875 CCDC171 Nonsynonymous SNV P6L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.495 215154 chr4 72316967 72316967 G A rs148635969 SLC4A4 Nonsynonymous SNV G380D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.6 215155 chr4 74352723 74352723 C T rs76085510 AFM Synonymous SNV F174F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.94 215156 chr14 36226050 36226050 T A RALGAPA1 Nonsynonymous SNV E204D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.01 215157 chr16 50745668 50745668 G A rs747674172 NOD2 Nonsynonymous SNV A589T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 215158 chr12 21377692 21377692 T C rs139026094 SLCO1B1 Nonsynonymous SNV I595T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 215159 chr16 55735842 55735842 T A rs139680023 SLC6A2 Nonsynonymous SNV F504Y 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 22.8 215160 chr4 77969515 77969515 C T rs368121339 CCNI Nonsynonymous SNV D216N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 215161 chr14 45646083 45646083 G A rs373590893 FANCM Nonsynonymous SNV A1350T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.767 215162 chr12 23716266 23716266 G C SOX5 Nonsynonymous SNV R86G 0 0 0 2 0 0 0.005 0 0 0 0 0 19.62 215163 chr12 24985659 24985659 C T rs144632372 BCAT1 Nonsynonymous SNV E287K 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 14.55 215164 chr16 58541897 58541897 C T rs748988290 NDRG4 Synonymous SNV D259D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 215165 chr12 30879022 30879022 C T rs367554320 CAPRIN2 Nonsynonymous SNV V262M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 215166 chr14 56103184 56103184 T C rs776342385 KTN1 Synonymous SNV A493A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.513 215167 chr12 32481074 32481074 G A rs201571553 BICD1 Nonsynonymous SNV R562Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 215168 chr12 32949167 32949167 T C rs551045165 PKP2 Nonsynonymous SNV I745V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.532 215169 chr12 41900422 41900422 G A rs74483136 PDZRN4 Synonymous SNV T78T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.97 215170 chr12 41946463 41946463 C T rs74569207 PDZRN4 Synonymous SNV V145V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.7 215171 chr12 42853871 42853871 G A rs3827522 PRICKLE1 Nonsynonymous SNV P746S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign/Likely benign 4.522 215172 chr12 42863266 42863266 C T rs79087668 PRICKLE1 Nonsynonymous SNV A124T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 22.6 215173 chr12 4705795 4705795 G A rs140472890 DYRK4 Nonsynonymous SNV A154T 0 0 0 2 0 0 0.005 0 0 0 0 0 17.13 215174 chr19 17988818 17988818 C T rs574999221 SLC5A5 Synonymous SNV S295S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 215175 chr4 114274208 114274208 G C rs772785351 ANK2 Nonsynonymous SNV E1478D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.65 215176 chr4 114288823 114288823 G A rs146476345 ANK2 Nonsynonymous SNV V803I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 215177 chr19 18707445 18707445 G A rs772871567 CRLF1 Synonymous SNV S337S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 215178 chr16 82033489 82033489 C T SDR42E1 Nonsynonymous SNV D137N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 215179 chr12 49433857 49433857 A G rs200601740 KMT2D Nonsynonymous SNV F2566L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.62 215180 chr4 126373835 126373835 C T rs150894545 FAT4 Synonymous SNV C3890C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.28 215181 chr9 98775126 98775126 A G rs34949533 ERCC6L2 Nonsynonymous SNV N1443D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 215182 chr9 98775433 98775433 T G rs36002949 ERCC6L2 Nonsynonymous SNV F1545C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.81 215183 chr16 84402319 84402319 T C rs200267569 ATP2C2 Nonsynonymous SNV L33S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.06 215184 chr7 47474979 47474979 C T rs753007274 TNS3 Synonymous SNV E75E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.725 215185 chr19 2834622 2834622 C T rs367842295 ZNF554 Synonymous SNV P463P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 215186 chr16 88783024 88783024 C T PIEZO1 Nonsynonymous SNV R2290Q 0 0 0.01 0 0 0 0 3 0 0 1 0 12.4 215187 chr7 64453073 64453073 G A ERV3-1 Nonsynonymous SNV P111L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.015 215188 chr19 3544908 3544908 C T rs200657741 MFSD12 Nonsynonymous SNV S431N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.96 215189 chr7 73150984 73150984 G A rs148088823 ABHD11 Nonsynonymous SNV R228W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 215190 chr19 36431638 36431638 G A rs144242723 LRFN3 Synonymous SNV G437G 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.016 215191 chr16 89264651 89264651 C T SLC22A31 Synonymous SNV L249L 0 0 0.01 0 0 0 0 3 0 0 1 0 10.16 215192 chrX 153689958 153689958 G C rs782607647 PLXNA3 Nonsynonymous SNV E372Q 0 0 0 2 0 0 0.005 0 0 0 0 1 23.3 215193 chr7 77579081 77579081 A G rs200105403 PHTF2 Synonymous SNV L600L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.49 215194 chr4 174449937 174449937 C A rs776061276 HAND2 Nonsynonymous SNV K168N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 215195 chr7 87908861 87908861 T A rs202193095 STEAP4 Nonsynonymous SNV N235I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 215196 chr4 184622907 184622907 T C TRAPPC11 Nonsynonymous SNV L970P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.278 215197 chr7 91752622 91752622 G A rs776543387 CYP51A1 Nonsynonymous SNV R300C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 215198 chr17 1548969 1548969 G A rs200018599 SCARF1 Nonsynonymous SNV P8L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.74 215199 chr17 16342963 16342963 C T rs369841329 SNHG29 0 0 0.007 0 0 0 0 2 0 0 0 0 8.533 215200 chr17 16344405 16344405 C A rs111566628 SNHG29 0 0 0.007 0 0 0 0 2 0 0 0 0 6.927 215201 chr7 92731344 92731344 T C rs202023980 SAMD9 Nonsynonymous SNV E1356G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 4.491 215202 chr19 38901614 38901614 G A rs772414329 RASGRP4 Nonsynonymous SNV T437M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 215203 chrX 47307591 47307591 A T rs148848609 ZNF41 Synonymous SNV A440A 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 0.031 215204 chr12 57111608 57111608 A T NACA Nonsynonymous SNV S1236T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.379 215205 chr19 40553346 40553346 T C rs367688121 ZNF780B Synonymous SNV T56T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.851 215206 chr10 102782087 102782087 C G rs145910584 PDZD7 Nonsynonymous SNV D200H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 215207 chr17 2291167 2291167 G A rs369173417 MNT Synonymous SNV S328S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.672 215208 chr15 40912916 40912916 G A KNL1 Nonsynonymous SNV D152N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 215209 chr12 6637850 6637850 G A rs201735986 NCAPD2 Nonsynonymous SNV R1102Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 215210 chr15 42128994 42128994 C T JMJD7 Synonymous SNV L240L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 215211 chr5 37815924 37815924 C T rs201306289 GDNF Synonymous SNV T155T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.17 215212 chr5 38418287 38418287 C T rs201876106 EGFLAM Synonymous SNV L304L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.34 215213 chr15 42575859 42575859 G C rs997447196 GANC Nonsynonymous SNV D157H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.021 215214 chr7 80302118 80302118 G A CD36 Synonymous SNV R347R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 215215 chr19 44612304 44612304 G A rs141326673 ZNF224 Nonsynonymous SNV R664H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.455 215216 chr5 55204372 55204372 A G rs181138965 IL31RA Nonsynonymous SNV N545S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.763 215217 chr19 4512100 4512100 T C rs773534227 PLIN4 Synonymous SNV K624K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.252 215218 chr5 60768611 60768611 G T ZSWIM6 Synonymous SNV V260V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.178 215219 chr17 37219763 37219763 G A RDM1P5 0 0 0.003 0 0 0 0 1 0 0 0 0 5.536 215220 chr11 102593744 102593744 A C MMP8 Nonsynonymous SNV I4R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.627 215221 chr11 102593753 102593753 A C MMP8 Star tloss M1? 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.716 215222 chr10 124351953 124351953 C T rs571730382 DMBT1 Nonsynonymous SNV S771L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 12.99 215223 chr5 66462748 66462748 G A MAST4 Nonsynonymous SNV D2320N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 215224 chr5 68660820 68660822 CAC - rs753508601 TAF9 R248_E249delinsQ 0 0.003 0 1 0 1 0.003 0 0 0 0 0 215225 chr5 71739940 71739940 G A rs373642159 ZNF366 Synonymous SNV Y626Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.717 215226 chr17 39022983 39022983 C T KRT12 Synonymous SNV E152E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 215227 chr15 62223303 62223303 C G rs78071599 VPS13C Nonsynonymous SNV E1965D 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 22.3 215228 chr15 63004189 63004189 C T TLN2 Synonymous SNV A849A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.67 215229 chr12 97078857 97078857 C A rs775743843 CFAP54 Nonsynonymous SNV P1952Q 0 0 0 2 0 0 0.005 0 0 0 0 0 13.18 215230 chr7 131895747 131895747 G A rs376095875 PLXNA4 Synonymous SNV P751P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 215231 chr7 133994192 133994192 T C rs148331749 SLC35B4 Synonymous SNV Q39Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.525 215232 chr5 80388624 80388624 T G rs369429250 RASGRF2 Synonymous SNV S465S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.442 215233 chr5 86703987 86703987 A G CCNH Synonymous SNV L58L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.896 215234 chr19 49610886 49610886 A C rs768303391 SNRNP70 Synonymous SNV G194G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 215235 chr13 103510638 103510638 A G rs4150295 BIVM-ERCC5, ERCC5 Nonsynonymous SNV H181R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 13.37 215236 chr15 74276373 74276373 G A rs146505992 STOML1 Nonsynonymous SNV R318W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 215237 chr17 42239292 42239292 A G rs78848036 HROB Nonsynonymous SNV S645G 0 0 0.003 3 0 0 0.008 1 0 0 0 0 8.222 215238 chr19 50774730 50774730 C T rs201746408 MYH14 Nonsynonymous SNV T992M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 215239 chr19 50823913 50823913 G A rs141194974 KCNC3 Nonsynonymous SNV R627W 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 215240 chr17 4520362 4520362 A - rs760848103 LINC01996 0 0 0.003 0 0 0 0 1 0 0 0 0 215241 chr19 51021053 51021061 GGCCACGGC - rs767195915 LRRC4B A637_A639del 0.001 0 0 0 1 0 0 0 0 0 0 0 215242 chr5 130828318 130828318 G A RAPGEF6 Nonsynonymous SNV P563L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 215243 chr10 35896761 35896761 G T GJD4 Nonsynonymous SNV G107V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 22.6 215244 chr17 4863116 4863116 G A rs373049408 SPAG7 Synonymous SNV I171I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 215245 chr5 136403476 136403476 C T rs139465331 SPOCK1 Nonsynonymous SNV A173T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.07 215246 chr17 55752391 55752391 C T rs141534185 MSI2 Synonymous SNV A279A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.38 215247 chr5 138714370 138714370 G C rs145899167 SLC23A1 Synonymous SNV G359G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 8.477 215248 chr12 234868 234868 C T rs781796622 IQSEC3 Synonymous SNV A231A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.22 215249 chr13 33092118 33092118 G A rs941214058 N4BP2L2 Stop gain R81X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 215250 chr10 49996689 49996689 A G WDFY4 Nonsynonymous SNV N1308S 0 0.005 0 3 0 2 0.008 0 0 0 0 0 15.33 215251 chr8 623569 623569 G A rs529532827 ERICH1 Synonymous SNV A261A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.46 215252 chr5 140248786 140248786 A G rs202010088 PCDHA11 Nonsynonymous SNV Y33C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25 215253 chr5 140262145 140262145 C A rs150463901 PCDHA13 Synonymous SNV R98R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.32 215254 chr13 42263640 42263640 T - rs768588971 VWA8 E1328Sfs*18 0 0 0 1 0 0 0.003 0 0 0 0 0 215255 chr10 61412677 61412677 A C rs11006655 SLC16A9 Nonsynonymous SNV D374E 0.002 0.005 0.007 4 2 2 0.01 2 0 0 0 0 10.63 215256 chr10 61413929 61413929 C T rs35511253 SLC16A9 Synonymous SNV R198R 0.003 0.005 0.007 4 3 2 0.01 2 0 0 0 0 11.17 215257 chr17 67080605 67080605 C A ABCA6 Nonsynonymous SNV V1410L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 215258 chr19 55877383 55877383 G A rs766720309 IL11 Nonsynonymous SNV R119W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.9 215259 chr19 55753608 55753608 C T rs139686170 PPP6R1 Synonymous SNV E257E 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 12.71 215260 chr17 71824672 71824672 T - rs763806008 LINC00469 0 0 0.017 0 0 0 0 5 0 0 0 0 215261 chr5 150901408 150901408 C T rs745505451 FAT2 Synonymous SNV A3582A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 215262 chr5 154284928 154284928 T C rs61749644 GEMIN5 Nonsynonymous SNV K834R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 20.9 215263 chr5 154394953 154394953 A G rs200070580 KIF4B Nonsynonymous SNV T512A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.508 215264 chr7 151257665 151257665 A G rs28763998 PRKAG2 Synonymous SNV I300I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 3.428 215265 chr17 73921440 73921440 C T rs185985579 FBF1 Nonsynonymous SNV R319Q 0 0 0.007 0 0 0 0 2 0 0 0 0 27.8 215266 chr5 167881056 167881056 T C WWC1 Nonsynonymous SNV V870A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 215267 chr17 74289520 74289520 G A rs751641638 QRICH2 Nonsynonymous SNV R264W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 215268 chr19 57642409 57642409 C A rs143977125 USP29 Nonsynonymous SNV S789Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.32 215269 chr14 104639572 104639572 C T rs371178408 KIF26A Nonsynonymous SNV A560V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 215270 chr19 57764649 57764649 G A rs377720732 ZNF805 Nonsynonymous SNV M21I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.441 215271 chr19 57869076 57869076 G C ZNF304 Nonsynonymous SNV K613N 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 215272 chr17 76437168 76437168 G A rs780967834 DNAH17 Nonsynonymous SNV P3881L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 215273 chr5 177022301 177022301 A G TMED9 Nonsynonymous SNV S198G 0 0 0 1 0 0 0.003 0 0 0 0 0 24 215274 chr17 76554299 76554299 A G rs749544716 DNAH17 Nonsynonymous SNV F690S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 215275 chr16 28508960 28508960 G A APOBR Synonymous SNV E866E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.024 215276 chr10 97447110 97447110 A G rs41299157 TCTN3 Synonymous SNV A210A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 14.2 215277 chr16 29816162 29816164 GAG - rs370392084 KIF22 E502del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 215278 chr17 78262515 78262515 G C rs770790542 RNF213 Nonsynonymous SNV Q298H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.145 215279 chr17 78319470 78319470 C A rs150357089 RNF213 Synonymous SNV T2445T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 215280 chr17 78322072 78322072 G A rs1007201189 RNF213 Nonsynonymous SNV A3313T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 215281 chr5 180582033 180582033 G A rs370476658 OR2V2 Nonsynonymous SNV V31M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.21 215282 chr17 7840491 7840491 C T rs762071854 CNTROB Nonsynonymous SNV R280C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 215283 chr17 78919556 78919556 G A rs368881284 RPTOR Nonsynonymous SNV A881T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 215284 chr6 1313672 1313672 G A FOXQ1 Nonsynonymous SNV A245T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.121 215285 chr14 21840057 21840057 G C SUPT16H Synonymous SNV A102A 0 0 0 2 0 0 0.005 0 0 0 0 0 8.976 215286 chr17 80676886 80676886 C T rs146334910 FN3KRP Synonymous SNV G82G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.98 215287 chr17 8076903 8076903 C T rs199964184 SNORD118 0 0 0.014 0 0 0 0 4 0 0 0 0 15 215288 chr6 10796286 10796287 CT - MAK Q364Gfs*18 0 0 0 1 0 0 0.003 0 0 0 0 0 215289 chr6 10894419 10894419 G T SYCP2L Synonymous SNV R106R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.758 215290 chr6 128134392 128134392 T G rs781517469 THEMIS Nonsynonymous SNV D465A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 215291 chr6 24667037 24667037 G A rs534169765 TDP2 Synonymous SNV G18G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.52 215292 chr16 50346051 50346051 C T rs373819210 ADCY7 Synonymous SNV N851N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.95 215293 chr16 5094715 5094715 C T rs763615927 C16orf89 Nonsynonymous SNV V360M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 215294 chr18 21489147 21489147 T C rs569436994 LAMA3 Nonsynonymous SNV L684P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 215295 chr14 33291084 33291084 C T rs141424968 AKAP6 Synonymous SNV D1355D 0 0 0 2 0 0 0.005 0 0 0 0 0 5.659 215296 chr14 35592856 35592856 C T rs770846176 PRORP Synonymous SNV T135T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.71 215297 chr18 28734738 28734738 G A rs115895313 DSC1 Nonsynonymous SNV A209V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 215298 chr6 28294331 28294331 C T rs144054310 ZSCAN31 Nonsynonymous SNV R119Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.97 215299 chr18 29122566 29122566 G A rs554396523 DSG2 Synonymous SNV T695T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.151 215300 chr6 34803226 34803226 C T rs35078643 UHRF1BP1 Synonymous SNV A275A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.16 215301 chr6 34839431 34839431 T A rs35032786 UHRF1BP1 Nonsynonymous SNV V1351E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 215302 chr6 34952910 34952910 C A rs6930932 ANKS1A Nonsynonymous SNV A355D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.88 215303 chr18 32844088 32844088 A G rs557306770 ZSCAN30 Synonymous SNV L77L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 215304 chr14 50597306 50597306 T C rs150752193 SOS2 Nonsynonymous SNV T1084A 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.76 215305 chr18 33484792 33484792 G A rs41274312 MIR187 0 0 0.003 0 0 0 0 1 0 0 0 0 18.34 215306 chr6 35108589 35108589 G A rs201851411 TCP11 Nonsynonymous SNV S20F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.25 215307 chr6 35289153 35289153 A C rs6917127 DEF6 Nonsynonymous SNV Q621P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.7 215308 chr14 51344697 51344697 C T rs573171806 ABHD12B Synonymous SNV L44L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.281 215309 chr16 67914784 67914784 C T rs752769144 EDC4 Nonsynonymous SNV P808S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.1 215310 chr18 46623854 46623854 T C rs146000214 DYM Nonsynonymous SNV Q532R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.71 215311 chr18 48918604 48918604 A G LINC01630 0 0 0.003 0 0 0 0 1 0 0 0 0 3.19 215312 chr6 159046769 159046769 C T rs377410212 TMEM181 Synonymous SNV F501F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 215313 chr6 41243926 41243926 G C rs2234245 TREM1 Nonsynonymous SNV S150C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 4.385 215314 chr6 41318587 41318587 T C rs143769074 NCR2 Synonymous SNV D272D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.008 215315 chr18 56940224 56940224 G C rs752697208 RAX Nonsynonymous SNV A72G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.881 215316 chr18 5892019 5892019 T A TMEM200C Nonsynonymous SNV Q15L 0 0 0.003 0 0 0 0 1 0 0 0 0 27 215317 chr18 60985651 60985651 C T rs766872577 BCL2 Synonymous SNV G83G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 215318 chr14 65268509 65268509 C T rs144388267 SPTB Nonsynonymous SNV D204N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 215319 chr6 168467471 168467471 C T rs373114402 FRMD1 Nonsynonymous SNV R74Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 215320 chr14 67671585 67671585 A T rs139302834 FAM71D Nonsynonymous SNV S231C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 215321 chr14 68042142 68042142 G A rs182273167 PLEKHH1 Nonsynonymous SNV A708T 0 0 0 2 0 0 0.005 0 0 0 0 0 21.9 215322 chr18 67795710 67795710 A G rs1051882302 RTTN Synonymous SNV A97A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.102 215323 chr6 170627225 170627225 C G FAM120B Synonymous SNV S261S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.749 215324 chr1 115217379 115217379 T A rs200717164 AMPD1 Nonsynonymous SNV L627F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 215325 chr16 79633334 79633334 C T MAF Nonsynonymous SNV E156K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.967 215326 chr6 47847259 47847259 A G rs749315183 PTCHD4 Nonsynonymous SNV Y441H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 215327 chr14 70634578 70634578 C T rs200355498 SLC8A3 Nonsynonymous SNV V188M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.5 215328 chr7 1542683 1542683 G C INTS1 Nonsynonymous SNV A68G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.26 215329 chr6 51917935 51917935 C A rs746441159 PKHD1 Synonymous SNV L693L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.224 215330 chr6 52343941 52343941 T C rs200116252 EFHC1 Nonsynonymous SNV I462T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.7 215331 chr7 4247862 4247862 C T rs778420128 SDK1 Synonymous SNV N269N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.23 215332 chr6 52993359 52993359 G C GCM1 Nonsynonymous SNV P319R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 215333 chr11 124496908 124496908 T A TBRG1 Nonsynonymous SNV Y234N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 28.8 215334 chr19 1009443 1009443 G C GRIN3B Nonsynonymous SNV V992L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 215335 chr1 11596563 11596563 G C rs777322447 DISP3 Synonymous SNV T1333T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.991 215336 chr19 10250991 10250991 C T rs761140414 DNMT1 Synonymous SNV T1163T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 215337 chr14 77745155 77745155 T C rs143747653 POMT2 Nonsynonymous SNV H650R 0 0 0 2 0 0 0.005 0 0 0 0 0 26 215338 chr6 87967114 87967114 A T rs753893386 ZNF292 Nonsynonymous SNV D1256V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 215339 chr9 27228230 27228230 G A rs536255448 TEK Nonsynonymous SNV R928Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 215340 chr14 93398737 93398737 G A rs761013910 CHGA Synonymous SNV V126V 0 0 0 2 0 0 0.005 0 0 0 0 0 9.457 215341 chr6 100061804 100061804 C G rs200682918 PRDM13 Synonymous SNV L431L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.649 215342 chr19 13218462 13218462 C T rs35206121 TRMT1 Synonymous SNV E474E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.069 215343 chr19 13370473 13370473 T C rs913405402 CACNA1A Synonymous SNV R1432R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.686 215344 chr19 14074024 14074024 G A rs376362982 RFX1 Synonymous SNV I878I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 215345 chr7 35840875 35840875 C G SEPTIN7 Nonsynonymous SNV T19S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 215346 chr6 112671112 112671112 G A rs145350912 RFPL4B Nonsynonymous SNV V68I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.26 215347 chr6 117127956 117127956 A G rs201143162 GPRC6A Synonymous SNV N304N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.74 215348 chr15 102197997 102197997 A G rs200557255 TARS3 Synonymous SNV Y712Y 0 0 0 2 0 0 0.005 0 0 0 0 0 3.567 215349 chr19 16973224 16973224 G A rs149533205 SIN3B Nonsynonymous SNV A374T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 215350 chr6 129663524 129663524 C T rs200923373 LAMA2 Stop gain R1450X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 48 215351 chr15 31295058 31295058 C T rs368901614 TRPM1 Nonsynonymous SNV R1299Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 24.3 215352 chr15 33954465 33954465 C T rs374898131 RYR3 Synonymous SNV Y1578Y 0 0 0 2 0 0 0.005 0 0 0 0 0 8.769 215353 chr12 124228773 124228773 G A ATP6V0A2 Synonymous SNV P405P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 13.65 215354 chr12 124362332 124362332 C T rs186076361 DNAH10 Nonsynonymous SNV T2632M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 215355 chr7 64864736 64864736 G A rs144227733 ZNF92 Nonsynonymous SNV G494D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.984 215356 chr7 65548107 65548107 C T rs143793815 ASL Nonsynonymous SNV T131M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 0.241 215357 chr12 129299387 129299387 C T rs201371924 SLC15A4 Nonsynonymous SNV D259N 0 0 0 2 0 0 0.005 0 0 0 0 0 5.68 215358 chr17 18198068 18198068 C T rs149870245 TOP3A Nonsynonymous SNV R246K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 215359 chr1 156928576 156928576 C T rs142957547 ARHGEF11 Nonsynonymous SNV R447H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.1 215360 chr19 20807544 20807544 C T rs782512962 ZNF626 Nonsynonymous SNV R380Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.44 215361 chr9 107266909 107266909 G A rs41277751 OR13F1 Synonymous SNV R122R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.47 215362 chr11 45274098 45274098 C T rs150550915 SYT13 Synonymous SNV T240T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.87 215363 chr19 2216631 2216631 C T rs769937964 DOT1L Nonsynonymous SNV R759C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 215364 chr6 152675893 152675893 T G rs79486252 SYNE1 Nonsynonymous SNV Q3616H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 16.81 215365 chr19 22786046 22786046 C T rs576618124 GOLGA2P9 0 0 0.007 0 0 0 0 2 0 0 0 0 4.479 215366 chr6 152718102 152718102 G A rs969369417 SYNE1 Nonsynonymous SNV S2462L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 215367 chr6 154751632 154751632 G T rs145627556 CNKSR3 Nonsynonymous SNV P40T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.826 215368 chr6 155503390 155503390 G A rs7770537 TIAM2 Nonsynonymous SNV R913H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.241 215369 chr19 24116167 24116167 A C rs142813729 ZNF726 Nonsynonymous SNV I417L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.645 215370 chr6 155573093 155573093 G A rs146614447 TIAM2 Nonsynonymous SNV V284I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 215371 chr6 155597114 155597114 G A rs114329733 CLDN20 Synonymous SNV A87A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 215372 chr6 159190852 159190852 T C rs140494633 EZR Synonymous SNV R405R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.646 215373 chr11 47741535 47741535 C T rs769984885 FNBP4 Nonsynonymous SNV R972Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 35 215374 chr15 44965567 44965567 G A rs368516499 PATL2 Synonymous SNV D104D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.877 215375 chr7 98786092 98786092 G A rs116916633 KPNA7 Nonsynonymous SNV P244L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 27 215376 chr17 28417479 28417479 C T rs376701227 EFCAB5 Synonymous SNV L1242L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.418 215377 chr1 170135853 170135853 T A METTL11B Nonsynonymous SNV F181I 0.006 0 0 1 7 0 0.003 0 0 0 0 0 5.085 215378 chr9 123724965 123724965 G A rs370935824 C5 Synonymous SNV Y1502Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.824 215379 chr19 36336927 36336927 G A rs368913905 NPHS1 Nonsynonymous SNV T537M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 215380 chr17 34079589 34079589 C T rs369941287 GAS2L2 Nonsynonymous SNV R94Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.895 215381 chr17 34079822 34079822 C T rs147495893 GAS2L2 Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 215382 chr19 38714779 38714779 C T DPF1 Nonsynonymous SNV A29T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 215383 chr7 1976526 1976526 T C rs761979149 MAD1L1 Nonsynonymous SNV Y443C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 215384 chr1 172502388 172502388 C T rs746559937 SUCO Nonsynonymous SNV P133L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.585 215385 chr15 65983111 65983111 C T rs374961379 DENND4A Nonsynonymous SNV R1230Q 0 0 0 2 0 0 0.005 0 0 0 0 0 12.91 215386 chr15 67500950 67500950 T C AAGAB Nonsynonymous SNV H113R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 215387 chr15 69003924 69003924 T C CORO2B Nonsynonymous SNV I171T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 215388 chr19 4033573 4033573 C T rs149366914 PIAS4 Synonymous SNV I379I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 215389 chr17 38519779 38519779 T A rs201734530 GJD3 Nonsynonymous SNV M97L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.53 215390 chr19 41075572 41075572 C A rs146874062 SPTBN4 Synonymous SNV T2322T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.22 215391 chr15 73528847 73528847 G A rs139850324 NEO1 Nonsynonymous SNV R484K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 215392 chr19 41744384 41744384 G A AXL Nonsynonymous SNV G67D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 215393 chr7 101840192 101840192 G A rs781788263 CUX1 Nonsynonymous SNV G512R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 215394 chr15 75499957 75499957 - CTG rs776631995 C15orf39 A523_T524insC 0 0 0 2 0 0 0.005 0 0 0 0 0 215395 chr15 75499962 75499962 A T rs749856902 C15orf39 Nonsynonymous SNV T525S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 215396 chr15 75499964 75499964 - GCACAG rs773405573 C15orf39 T525_E526insAQ 0 0 0 2 0 0 0.005 0 0 0 0 0 215397 chr7 105105789 105105789 C T PUS7 Nonsynonymous SNV G539D 0 0.003 0 0 0 1 0 0 0 0 0 0 33 215398 chr7 17854521 17854521 T C SNX13 Nonsynonymous SNV H678R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.23 215399 chr17 40125771 40125771 C T rs2229931 CNP Synonymous SNV G345G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.33 215400 chr7 29606207 29606207 A G PRR15 Nonsynonymous SNV N88D 0 0 0 1 0 0 0.003 0 0 0 0 0 28 215401 chr19 45912718 45912718 C T rs777786624 CD3EAP Nonsynonymous SNV R500W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 215402 chr1 203152864 203152864 G C rs115095389 CHI3L1 Nonsynonymous SNV P124A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.041 215403 chr9 132566432 132566432 A G TOR1B Nonsynonymous SNV R94G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 215404 chr7 44621332 44621332 G A TMED4 Nonsynonymous SNV P25L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 215405 chr7 44734049 44734049 C T rs199871931 OGDH Synonymous SNV N510N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.35 215406 chr15 90764291 90764291 C T rs534249755 SEMA4B Nonsynonymous SNV S110L 0 0 0 2 0 0 0.005 0 0 0 0 0 16.26 215407 chr19 49812614 49812614 G A rs536601412 SLC6A16 Nonsynonymous SNV R311W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 215408 chr1 208270184 208270184 G A rs149213633 PLXNA2 Synonymous SNV I592I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 14.82 215409 chr15 91811712 91811712 A G rs776183422 SV2B Nonsynonymous SNV Y306C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 215410 chr7 47876558 47876558 C T rs138233374 PKD1L1 Synonymous SNV A1968A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.72 215411 chr19 50266499 50266499 C T rs148601495 TSKS Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 215412 chr1 212220719 212220719 A G rs117030422 DTL Synonymous SNV Q98Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.114 215413 chr16 10788219 10788219 G A rs141349037 TEKT5 Nonsynonymous SNV T171M 0 0.003 0 3 0 1 0.008 0 0 0 0 0 3.597 215414 chr19 51358220 51358220 C T rs201712212 KLK3 Synonymous SNV V3V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.324 215415 chr7 56146182 56146182 C T rs552040880 SUMF2 Nonsynonymous SNV R184W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 215416 chr11 59368057 59368057 C G rs138158355 OSBP Nonsynonymous SNV R408T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.4 215417 chr19 52097293 52097293 T C LINC01530 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 215418 chr19 52216699 52216699 C T rs575227050 HAS1 Nonsynonymous SNV G572D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 215419 chr16 12875067 12875067 G A rs202024707 CPPED1 Synonymous SNV C88C 0 0 0 3 0 0 0.008 0 0 0 0 0 11.62 215420 chr16 14355037 14355037 C T rs141253883 MRTFB Synonymous SNV I1001I 0 0 0 3 0 0 0.008 0 0 0 0 0 14.67 215421 chr1 225577561 225577561 T C DNAH14 Nonsynonymous SNV F4439S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 25.9 215422 chr1 228559224 228559224 C T rs772360213 OBSCN Synonymous SNV R6915R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.59 215423 chr19 55543677 55543677 G A rs764355964 GP6 Nonsynonymous SNV P52L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 215424 chr19 55945116 55945116 A G SHISA7 Synonymous SNV L342L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 215425 chr16 28509461 28509461 G A rs371882626 APOBR Synonymous SNV S1005S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.964 215426 chr16 30006698 30006698 T C HIRIP3 Nonsynonymous SNV K51R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.88 215427 chr19 5687861 5687861 C T rs768707595 HSD11B1L Nonsynonymous SNV A144V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.349 215428 chr16 30566809 30566809 G A rs371198717 ZNF764 Synonymous SNV G310G 0 0 0 3 0 0 0.008 0 0 0 0 0 13.92 215429 chr19 57088729 57088729 C G rs749331724 ZNF470 Nonsynonymous SNV P311R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 215430 chr10 21977439 21977439 A C rs74657576 MLLT10 Synonymous SNV T573T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 215431 chr10 22048296 22048296 G A rs201328349 DNAJC1 Nonsynonymous SNV R467W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 215432 chr10 23290920 23290920 G A rs750256146 ARMC3 Nonsynonymous SNV A237T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 215433 chr19 58262213 58262216 AGTG - rs753030745 ZNF776 S32Rfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 215434 chr1 235904904 235904904 T C LYST Nonsynonymous SNV K2726E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.47 215435 chr17 74470194 74470194 C A rs11553545 RHBDF2 Nonsynonymous SNV D499Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 29.1 215436 chr17 7481314 7481314 C G rs200487484 SNORA67 0.002 0 0 0 2 0 0 0 0 0 0 0 10.28 215437 chr7 105148747 105148747 T G rs781605797 PUS7 Synonymous SNV G71G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.892 215438 chr7 106509215 106509215 C T rs199690535 PIK3CG Synonymous SNV P403P 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 7.093 215439 chr8 48874703 48874703 G A rs749518983 MCM4 Nonsynonymous SNV G109D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 215440 chr7 107330644 107330644 C T rs147952620 SLC26A4 Nonsynonymous SNV R409C 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 215441 chr17 7674672 7674672 C T rs376959169 DNAH2 Nonsynonymous SNV R1463C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 215442 chr19 7589905 7589905 G A rs773313990 MCOLN1 Synonymous SNV P30P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 9.268 215443 chr11 71717271 71717271 C T rs763350835 NUMA1 Synonymous SNV S1820S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.16 215444 chr1 26672785 26672785 C T rs765947473 CRYBG2 Nonsynonymous SNV D122N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.369 215445 chr19 8389949 8389949 G A rs373935743 KANK3 Synonymous SNV A656A 0 0 0.007 6 0 0 0.015 2 0 0 0 0 12.64 215446 chr11 72535825 72535825 C T rs759250549 ATG16L2 Stop gain R206X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 215447 chr17 79257253 79257253 C T SLC38A10 Nonsynonymous SNV G105S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 215448 chr16 602173 602173 G A rs775681212 CAPN15 Nonsynonymous SNV R823Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 215449 chr17 79871659 79871659 G A rs908108174 SIRT7 Nonsynonymous SNV A332V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.115 215450 chr19 9024948 9024948 C T rs373720975 MUC16 Nonsynonymous SNV R12305H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 215451 chr16 67315671 67315671 G A rs771938890 PLEKHG4 Synonymous SNV T231T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.618 215452 chr16 67469601 67469601 C T rs147780776 HSD11B2 Synonymous SNV T112T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.246 215453 chr8 104337697 104337697 C T rs368015730 FZD6 Nonsynonymous SNV R150C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 215454 chr8 116617113 116617113 G A rs143724802 TRPS1 Synonymous SNV T352T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 6.257 215455 chr7 141490952 141490952 A T rs370346198 TAS2R5 Nonsynonymous SNV Y264F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.7 215456 chr7 141857857 141857857 C T rs567505779 MGAM2 Nonsynonymous SNV R682W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 215457 chr7 142480031 142480031 G T rs373988778 PRSS3P2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.412 215458 chr16 71950471 71950471 C T IST1 Synonymous SNV L65L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.13 215459 chr7 143085431 143085431 C T rs75145918 ZYX Synonymous SNV N350N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.603 215460 chr16 72991669 72991669 G A rs376718314 ZFHX3 Synonymous SNV A792A 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 0.826 215461 chr1 100752675 100752675 A G RTCA Synonymous SNV L305L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.76 215462 chr10 75238293 75238293 A T PPP3CB Synonymous SNV L125L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.724 215463 chr16 733187 733187 C A rs111609461 JMJD8 Stop gain E157X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 215464 chr7 143826553 143826553 G T rs757623646 OR2A14 Synonymous SNV V116V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.453 215465 chr7 143826554 143826554 A T rs767983743 OR2A14 Nonsynonymous SNV M117L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 215466 chr7 148709424 148709424 C T rs533578464 PDIA4 Nonsynonymous SNV E215K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 215467 chr18 13095665 13095665 G A CEP192 Nonsynonymous SNV V2140I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.381 215468 chr16 81095488 81095488 A T C16orf46 Nonsynonymous SNV F156I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.129 215469 chr1 1115062 1115062 C A rs1052560726 TTLL10 Nonsynonymous SNV H48Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.193 215470 chr1 111825983 111825983 C T rs552929658 CHIAP2 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 215471 chr1 45120291 45120291 G T TMEM53 Nonsynonymous SNV D185E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 215472 chr18 29099768 29099768 C G rs397516711 DSG2 Synonymous SNV V28V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.438 215473 chr1 116670935 116670935 C T rs138934890 MAB21L3 Nonsynonymous SNV P277L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 215474 chr1 49193649 49193649 T C BEND5 Nonsynonymous SNV K223R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 215475 chr1 52822722 52822722 G A rs201266966 CC2D1B Nonsynonymous SNV A610V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 215476 chr10 124348694 124348694 G A rs377585441 DMBT1 Nonsynonymous SNV G663E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 215477 chr10 124671189 124671189 C T rs759893178 FAM24A Synonymous SNV I13I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 215478 chr16 86565776 86565776 G A rs550859374 MTHFSD Synonymous SNV S331S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.52 215479 chr1 12416045 12416045 G A rs749998722 VPS13D Nonsynonymous SNV V3232I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.652 215480 chr18 43460122 43460122 G A rs755556298 EPG5 Nonsynonymous SNV A1862V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.63 215481 chr1 13802417 13802417 G A rs372230880 LRRC38 Nonsynonymous SNV A261V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 215482 chr8 4494908 4494908 T C rs755635245 CSMD1 Synonymous SNV L86L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.375 215483 chr1 57340632 57340632 G A rs199851888 C8A Nonsynonymous SNV R61Q 0.003 0 0 3 3 0 0.008 0 0 0 0 0 29 215484 chr1 62330062 62330062 G A rs114708702 PATJ Nonsynonymous SNV M864I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 14.57 215485 chr1 62907214 62907214 A G rs142419211 USP1 Nonsynonymous SNV N76D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 13.4 215486 chr18 5892051 5892051 G C TMEM200C Synonymous SNV T4T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.64 215487 chr1 46073109 46073109 A G rs144479143 NASP Nonsynonymous SNV S112G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.579 215488 chr1 152671538 152671538 - CAGCTCTGGGGGCTGCTG rs755491779 LCE2A G64_G65insCCSSGG 0 0 0.003 0 0 0 0 1 0 0 0 0 215489 chr16 89758885 89758885 G A rs756260827 CDK10 Nonsynonymous SNV R78Q 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 215490 chr8 13357459 13357459 T C rs375441125 DLC1 Nonsynonymous SNV Q41R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 215491 chr1 153923854 153923854 C T rs377025190 CRTC2 Nonsynonymous SNV R429H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 215492 chr1 78429831 78429831 G A rs112997035 FUBP1 Synonymous SNV P319P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 215493 chr1 155296779 155296779 G A rs768034492 RUSC1 Nonsynonymous SNV R282H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 215494 chr8 21891778 21891778 G A rs750538427 NPM2 Nonsynonymous SNV V175M 0 0 0 1 0 0 0.003 0 0 0 0 0 4.859 215495 chr8 22022975 22022975 C G BMP1 Synonymous SNV P19P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.29 215496 chr9 20414343 20414343 - CTGCTG MLLT3 S187_T188insSS 0 0.003 0 0 0 1 0 0 0 0 0 0 215497 chr1 158326525 158326525 A C rs200793877 CD1E Nonsynonymous SNV K147Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.001 215498 chr10 125780762 125780762 - GGGC CHST15 Frameshift insertion P453Afs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 215499 chr17 1839899 1839899 C T rs749590901 RTN4RL1 Nonsynonymous SNV R406H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 215500 chr8 27461831 27461831 T C CLU Nonsynonymous SNV K304R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 215501 chr17 19318884 19318884 C T rs116047884 RNF112 Synonymous SNV F468F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.97 215502 chr1 161953930 161953930 A G rs61737578 OLFML2B Synonymous SNV A597A 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 6.586 215503 chr11 1018207 1018207 T C MUC6 Nonsynonymous SNV T1532A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 215504 chr11 1018208 1018208 G A rs535925758 MUC6 Synonymous SNV S1531S 0.003 0 0 0 3 0 0 0 0 0 0 0 3.797 215505 chr1 162562566 162562566 A G rs113556635 UAP1 Nonsynonymous SNV N468S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22 215506 chr1 163131596 163131596 T C rs138682411 LOC101928404 0 0 0.003 0 0 0 0 1 0 0 0 0 0.423 215507 chr1 163313568 163313568 A C rs16852767 NUF2 Nonsynonymous SNV S239R 0 0 0.01 0 0 0 0 3 0 0 0 0 10.6 215508 chr12 14613501 14613501 C T rs760359935 ATF7IP Nonsynonymous SNV S743L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 215509 chr8 39845403 39845403 A G rs200097695 IDO2 Nonsynonymous SNV I168V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.394 215510 chr20 1300289 1300289 G A rs370328535 SDCBP2 Synonymous SNV A23A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.21 215511 chr12 248242 248250 AGAGGAGGA - rs543798304 IQSEC3 E274_E276del 0 0.003 0 0 0 1 0 0 0 0 0 0 215512 chr1 171755153 171755153 A G EEF1AKNMT Nonsynonymous SNV I194V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.405 215513 chr8 71646414 71646414 G C rs140733779 XKR9 Nonsynonymous SNV V293L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.769 215514 chr1 173802522 173802522 G A rs772824234 DARS2 Synonymous SNV E167E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.653 215515 chr1 17409113 17409113 - G rs745993826 PADI2 Frameshift insertion H362Pfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 215516 chr1 176927539 176927539 T C ASTN1 Nonsynonymous SNV N560D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 215517 chr19 16902406 16902406 C T rs757264930 NWD1 Synonymous SNV T856T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.649 215518 chr1 180010914 180010914 G A CEP350 Nonsynonymous SNV D1447N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.32 215519 chr1 180068021 180068021 C T CEP350 Synonymous SNV L3030L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.13 215520 chr16 421999 421999 G A rs147582045 PGAP6 Synonymous SNV Y768Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.606 215521 chr17 3629404 3629406 GAA - HASPIN K727del 0 0 0 2 0 0 0.005 0 0 0 0 0 215522 chr8 101721750 101721750 G T rs763299644 PABPC1 Nonsynonymous SNV N394K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 215523 chr20 3102855 3102855 C T rs146513940 UBOX5 Nonsynonymous SNV A144T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.857 215524 chr8 110587335 110587335 C T rs200832178 SYBU Nonsynonymous SNV V468I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.035 215525 chr1 186147652 186147652 G A rs770590855 HMCN1 Nonsynonymous SNV D5350N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 215526 chr1 193074416 193074416 C G rs548358813 GLRX2 Nonsynonymous SNV A33P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 215527 chr1 197297839 197297839 C T CRB1 Stop gain Q120X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 215528 chr19 2216352 2216354 GAC - rs766020008 DOT1L D667del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 215529 chr20 18122895 18122895 G A PET117 Nonsynonymous SNV R47Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 215530 chr20 18296346 18296346 C T rs751585322 ZNF133 Nonsynonymous SNV T265M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 215531 chr8 142190935 142190935 G A rs764703669 DENND3 Nonsynonymous SNV V976M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 215532 chr8 143546211 143546211 G A ADGRB1 Nonsynonymous SNV G218S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 215533 chr8 144650044 144650044 T G MROH6 Synonymous SNV P593P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.117 215534 chr17 40844585 40844585 G A rs761376045 CNTNAP1 Nonsynonymous SNV D867N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 215535 chr8 144945333 144945333 C T rs781965772 EPPK1 Nonsynonymous SNV G697R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 215536 chr17 43181096 43181096 C G NMT1 Nonsynonymous SNV T395R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 215537 chr16 19556169 19556169 A G rs8054531 CCP110 Synonymous SNV R845R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.334 215538 chr16 20322602 20322602 C A rs76993218 GP2 Synonymous SNV G369G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.48 215539 chr19 36352477 36352477 T A KIRREL2 Synonymous SNV P358P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.83 215540 chr1 22074729 22074729 G A rs765811006 USP48 Synonymous SNV C270C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 215541 chr9 214593 214593 T C rs116104753 DOCK8-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.751 215542 chr9 215277 215277 G A rs115917982 DOCK8-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.855 215543 chr17 46877017 46877017 C T rs201225285 TTLL6 Synonymous SNV V239V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.65 215544 chr19 39230791 39230791 C G rs141602730 CAPN12 Nonsynonymous SNV G210A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 215545 chr1 22839498 22839498 A G rs144774049 ZBTB40 Nonsynonymous SNV N736S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.68 215546 chr9 32630262 32630262 A G TAF1L Synonymous SNV D1772D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.551 215547 chr9 33989021 33989021 C T rs895087555 UBAP2 Nonsynonymous SNV G93E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 215548 chr19 40895551 40895551 G A rs780768411 HIPK4 Synonymous SNV L87L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.86 215549 chr9 35091616 35091616 C T rs149171782 PIGO Synonymous SNV A756A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.72 215550 chr9 35719820 35719820 T C TLN1 Nonsynonymous SNV I499V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.51 215551 chr19 41700609 41700609 G A rs774414274 CYP2S1 Nonsynonymous SNV G113D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 215552 chr9 35906575 35906575 - CACCACCTCCAC HRCT1 H103_H104insLHHH 0 0 0 1 0 0 0.003 0 0 0 0 0 215553 chr1 232596877 232596877 T C rs201730315 SIPA1L2 Nonsynonymous SNV M951V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 20.6 215554 chr20 54978528 54978528 G A rs762112166 CSTF1 Synonymous SNV A347A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.711 215555 chr17 61685296 61685296 C T rs748925374 TACO1 Synonymous SNV A276A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.41 215556 chr16 66622001 66622001 G A rs778680333 CMTM2 Synonymous SNV G189G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.1 215557 chr10 5762874 5762874 C T rs76832615 TASOR2 Synonymous SNV D29D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.331 215558 chr17 65103586 65103586 G A rs186003224 HELZ Nonsynonymous SNV P1648L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 215559 chr9 80343515 80343515 C T rs61755087 GNAQ Synonymous SNV S268S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.8 215560 chr10 8006338 8006338 G A rs201464808 TAF3 Nonsynonymous SNV A289T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 215561 chr12 95486523 95486523 G A rs79088969 FGD6 Synonymous SNV S1233S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.33 215562 chr1 244745107 244745107 T C rs140946008 CATSPERE Nonsynonymous SNV F503L 0.001 0 0.014 0 1 0 0 4 0 0 0 0 10.16 215563 chr9 90502144 90502144 G A rs150914311 SPATA31E1 Synonymous SNV P914P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.276 215564 chr11 48346891 48346891 A C rs200135791 OR4C3 Synonymous SNV G106G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 215565 chr10 15600141 15600141 G T rs961624156 ITGA8 Nonsynonymous SNV P885T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.02 215566 chr9 95362772 95362772 G A rs370232919 CENPP Synonymous SNV L9L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.125 215567 chr9 95738716 95738716 G C FGD3 Nonsynonymous SNV G60R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.608 215568 chr17 7140069 7140069 G A rs929552302 PHF23 Synonymous SNV A55A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.736 215569 chr17 7228278 7228278 G A rs371550106 NEURL4 Synonymous SNV H551H 0 0 0 2 0 0 0.005 0 0 0 0 0 3.029 215570 chr20 62329826 62329826 G A rs765128731 TNFRSF6B Synonymous SNV A271A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.464 215571 chr20 62329827 62329827 C T rs750208461 TNFRSF6B Synonymous SNV L272L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.105 215572 chr9 107457332 107457332 C T rs61742675 OR13D1 Synonymous SNV T210T 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 3.485 215573 chr19 4682953 4682953 G A rs551970088 DPP9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.788 215574 chr9 108120662 108120662 A G SLC44A1 Nonsynonymous SNV I236M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 215575 chr13 114060417 114060417 C A LOC101928841 Nonsynonymous SNV M696I 0 0.005 0 0 0 2 0 0 0 0 0 0 6.161 215576 chr13 115089992 115089992 C A rs201875013 CHAMP1 Synonymous SNV P225P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.486 215577 chr11 55761338 55761338 C G rs58625186 OR5F1 Nonsynonymous SNV C255S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 215578 chr11 55761345 55761345 C T rs770515341 OR5F1 Nonsynonymous SNV A253T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.853 215579 chr11 55761346 55761346 A G rs775887199 OR5F1 Synonymous SNV Y252Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 215580 chr11 55761352 55761352 C G rs370696479 OR5F1 Synonymous SNV L250L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.637 215581 chr11 55761355 55761355 A G rs371962080 OR5F1 Synonymous SNV I249I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 215582 chr1 31899638 31899638 G A rs782797191 SERINC2 Nonsynonymous SNV V254M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 215583 chr1 33613055 33613055 C T rs140058139 TRIM62 Nonsynonymous SNV R263H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 215584 chr1 40148282 40148282 A G rs138153096 HPCAL4 Synonymous SNV L96L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.18 215585 chr1 40751596 40751596 G A rs764861582 ZMPSTE24 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25 215586 chr1 40881953 40881953 C T rs763862055 SMAP2 Nonsynonymous SNV L233F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 215587 chr21 46066742 46066742 G T rs879996732 KRTAP10-11 Nonsynonymous SNV A123S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 215588 chr21 46066744 46066744 T C rs782696696 KRTAP10-11 Synonymous SNV A123A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 215589 chr21 46066750 46066750 G A KRTAP10-11 Synonymous SNV S125S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.09 215590 chr21 46066751 46066751 T C rs782233211 KRTAP10-11 Nonsynonymous SNV C126R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 215591 chr21 46066758 46066758 G A rs781935072 KRTAP10-11 Nonsynonymous SNV R128Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.685 215592 chr21 46066763 46066763 T C rs879995411 KRTAP10-11 Nonsynonymous SNV S130P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 215593 chr11 58207235 58207244 GTAATGCAGG - rs769775443 OR5B12 L128Pfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 215594 chr9 130286046 130286046 C T rs138717741 NIBAN2 Synonymous SNV A154A 0.002 0 0.003 2 2 0 0.005 1 1 0 0 0 19.48 215595 chr1 45120708 45120708 C T TMEM53 Synonymous SNV L46L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 215596 chr1 47033922 47033922 G A rs866045838 MKNK1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.714 215597 chr21 47832826 47832826 A G rs779966681 PCNT Nonsynonymous SNV T1906A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 215598 chr17 80051573 80051573 C A FASN Nonsynonymous SNV A119S 0 0 0 1 0 0 0.003 0 0 0 0 0 31 215599 chr1 52747414 52747414 G A rs61752688 ZFYVE9 Nonsynonymous SNV C925Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.3 215600 chr17 80059644 80059644 T C CCDC57 Nonsynonymous SNV T508A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.165 215601 chr9 134351681 134351681 C T rs756720120 PRRC2B Nonsynonymous SNV R1389W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.4 215602 chr9 134351919 134351919 A G PRRC2B Nonsynonymous SNV K1468R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 215603 chr22 20785799 20785799 G A SCARF2 Synonymous SNV P120P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 215604 chr17 8296214 8296214 C T RNF222 Nonsynonymous SNV C189Y 0 0 0 2 0 0 0.005 0 0 0 0 0 16.67 215605 chr11 63532638 63532638 G A rs548188698 C11orf95 Synonymous SNV S242S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 215606 chr11 63585458 63585458 C T rs142984715 SPINDOC Synonymous SNV A103A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 215607 chr9 135797337 135797337 C T rs118203395 TSC1 Nonsynonymous SNV V127I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 215608 chr1 62672651 62672651 - A L1TD1 Frameshift insertion I119Nfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 215609 chr9 137534094 137534094 C T rs548525119 COL5A1 Nonsynonymous SNV P21S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 9.842 215610 chr14 20404080 20404080 T C rs145897406 OR4K1 Synonymous SNV F85F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 215611 chr9 139272168 139272168 C T SNAPC4 Nonsynonymous SNV A1371T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 215612 chr9 139278105 139278105 G A rs769451254 SNAPC4 Nonsynonymous SNV R506W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 215613 chr9 139399350 139399350 C T rs755124691 NOTCH1 Nonsynonymous SNV R1598H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.39 215614 chr14 20839704 20839704 G A rs759151434 TEP1 Synonymous SNV A2280A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.024 215615 chr18 28934622 28934622 G A rs369133619 DSG1 Synonymous SNV L821L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.271 215616 chr19 55889490 55889490 G A rs751427815 TMEM190 Synonymous SNV E151E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.354 215617 chr9 140127856 140127856 G A rs121918239 SLC34A3 Synonymous SNV Q252Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.39 215618 chr9 140358908 140358908 C T PNPLA7 Nonsynonymous SNV G989S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.76 215619 chr17 13504194 13504194 C T HS3ST3A1 Nonsynonymous SNV A85T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.3 215620 chr17 16004984 16004984 G A rs141130092 NCOR1 Nonsynonymous SNV T664M 0 0 0 3 0 0 0.008 0 0 0 0 0 5.267 215621 chr22 38037452 38037452 G A rs368101490 SH3BP1 Synonymous SNV Q58Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.248 215622 chr18 44774202 44774202 G A rs925923039 SKOR2 Synonymous SNV S451S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.074 215623 chr1 91733325 91733325 T A rs200074366 HFM1 Nonsynonymous SNV D1287V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 215624 chr22 40804805 40804805 G T rs773812224 SGSM3 Stop gain E532X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 40 215625 chr22 40804963 40804963 C T rs149452899 SGSM3 Synonymous SNV H554H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.449 215626 chr18 51691015 51691015 C T MBD2 Synonymous SNV L329L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.32 215627 chr22 40815101 40815101 C T rs758709520 MRTFA Synonymous SNV T447T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 215628 chr18 52556623 52556623 A G rs776538289 RAB27B Synonymous SNV P212P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 4.897 215629 chr10 19498593 19498593 G T MALRD1 Nonsynonymous SNV S992I 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 215630 chr10 19571999 19571999 C G MALRD1 Nonsynonymous SNV P1103R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.24 215631 chr19 5914749 5914749 C T rs778058706 CAPS Nonsynonymous SNV R87W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 215632 chr17 33464567 33464567 G A rs764758756 NLE1 Synonymous SNV L210L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.751 215633 chr20 19698205 19698205 G A rs150848944 SLC24A3 Nonsynonymous SNV V585I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 215634 chr11 73020376 73020378 CTC - rs769904126 ARHGEF17 S235del 0.003 0 0 0 3 0 0 0 0 0 0 0 215635 chr20 20232254 20232254 T G rs778496899 CFAP61 Nonsynonymous SNV D725E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 215636 chr20 20232314 20232314 C T rs370294355 CFAP61 Synonymous SNV T745T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 215637 chr10 35929258 35929258 G A FZD8 Nonsynonymous SNV A367V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 215638 chr20 20493480 20493480 A G rs748829198 RALGAPA2 Synonymous SNV S1511S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.572 215639 chr18 72176115 72176115 G A rs368043121 CNDP2 Synonymous SNV P136P 0 0 0 2 0 0 0.005 0 0 0 0 0 11.05 215640 chr11 74915566 74915566 G A rs149765874 SLCO2B1 Nonsynonymous SNV V547I 0.003 0 0 0 3 0 0 0 0 0 0 0 1.09 215641 chr22 50898827 50898827 G A rs202156491 SBF1 Nonsynonymous SNV R1054W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 215642 chr19 8381452 8381452 C T rs751841437 NDUFA7 Nonsynonymous SNV R60H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 215643 chr17 38420849 38420849 A G rs1029241619 WIPF2 Nonsynonymous SNV S141G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.21 215644 chr14 64682978 64682978 C T rs150955173 SYNE2 Nonsynonymous SNV S106L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign/Likely benign 35 215645 chr11 108137969 108137969 A G rs567045160 ATM Synonymous SNV L846L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 6.863 215646 chr2 101009848 101009848 C T rs59148684 CHST10 Synonymous SNV P310P 0.001 0.003 0.014 0 1 1 0 4 0 0 1 0 9.552 215647 chr2 101009983 101009983 C T rs3748933 CHST10 Synonymous SNV T265T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 215648 chr2 101012068 101012068 A G rs57227647 CHST10 Nonsynonymous SNV S146P 0.001 0.003 0.014 0 1 1 0 4 0 0 1 0 11.86 215649 chr17 39038905 39038905 A G KRT20 Nonsynonymous SNV I131T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 215650 chr10 50340187 50340187 G A rs201806315 FAM170B Nonsynonymous SNV A108V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 215651 chr20 33590971 33590971 T C rs776308875 TRPC4AP Nonsynonymous SNV D791G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 215652 chr10 50955247 50955247 C T OGDHL Nonsynonymous SNV G123E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 215653 chr19 1054818 1054818 C T rs368024653 ABCA7 Synonymous SNV L1297L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.01 215654 chr20 35422309 35422309 G A rs3810506 SOGA1 Synonymous SNV T1392T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.724 215655 chr2 10930008 10930008 C T rs773151537 PDIA6 Nonsynonymous SNV G236E 0.001 0 0 0 1 0 0 0 0 0 0 0 34 215656 chr10 61973227 61973227 G A rs368047582 ANK3 Synonymous SNV H296H 0 0 0 2 0 0 0.005 0 0 0 0 0 10.77 215657 chr2 10959431 10959431 C T rs144796874 PDIA6 Star tloss M44I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 215658 chr19 10742567 10742567 C T rs188705216 SLC44A2 Nonsynonymous SNV A215V 0 0 0 2 0 0 0.005 0 0 0 0 0 25 215659 chr19 10893743 10893743 C T rs552366130 DNM2 Nonsynonymous SNV R266W 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 35 215660 chr10 69644743 69644743 G A SIRT1 Synonymous SNV G88G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.899 215661 chr2 113418056 113418056 A G rs147689740 SLC20A1 Nonsynonymous SNV Y567C 0.005 0.005 0 0 6 2 0 0 0 0 0 0 27 215662 chr11 118111032 118111032 C G rs149565274 MPZL3 Nonsynonymous SNV G33A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 215663 chr2 155098588 155098588 A G GALNT13 Synonymous SNV V119V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.413 215664 chr19 9066291 9066291 G C rs751329457 MUC16 Nonsynonymous SNV T7052R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 215665 chr20 43355998 43355998 C G rs142405609 CCN5 Nonsynonymous SNV P186A 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 3.62 215666 chr14 86089367 86089367 G A rs147101710 FLRT2 Synonymous SNV A503A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.015 215667 chr17 40860088 40860088 T G rs147124192 EZH1 Synonymous SNV T522T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.02 215668 chr20 44841694 44841694 G A rs377357652 CDH22 Synonymous SNV G324G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.195 215669 chr20 44869723 44869723 G A CDH22 Synonymous SNV A143A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.765 215670 chr2 128038139 128038139 C T rs371627165 ERCC3 Nonsynonymous SNV V471I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.8 215671 chr19 1360603 1360603 G T PWWP3A Nonsynonymous SNV C160F 0 0 0 2 0 0 0.005 0 0 0 0 0 14.02 215672 chr19 1360718 1360718 C T PWWP3A Synonymous SNV A198A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.03 215673 chr10 73964231 73964231 C T rs781474269 ASCC1 Nonsynonymous SNV G82E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 215674 chr20 47604883 47604883 G A rs143122173 ARFGEF2 Synonymous SNV A773A 0 0 0.007 0 0 0 0 2 0 0 0 0 12.33 215675 chr10 75519778 75519778 C A rs368906541 SEC24C Nonsynonymous SNV P162T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 215676 chr1 1007294 1007294 G A rs951044032 RNF223 Nonsynonymous SNV A218V 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.02 215677 chr19 1468614 1468614 G A rs368810519 APC2 Nonsynonymous SNV E1771K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.06 215678 chr10 81317001 81317001 G A SFTPA2 Synonymous SNV N247N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.503 215679 chr20 51871158 51871158 C T rs781479622 TSHZ2 Synonymous SNV S384S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.735 215680 chr10 81921753 81921753 C T rs555993142 ANXA11 Nonsynonymous SNV G373E 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 34 215681 chr14 95081101 95081101 C T rs375245228 SERPINA3 Nonsynonymous SNV T108M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 215682 chr20 58567510 58567510 T G rs376611246 CDH26 Nonsynonymous SNV I454S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 215683 chr17 47007859 47007859 T G rs201756206 SNF8 Nonsynonymous SNV E235A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 215684 chr1 110170426 110170426 C T rs763166818 AMPD2 Synonymous SNV Y306Y 0.002 0 0 0 2 0 0 0 0 0 0 0 12.22 215685 chr10 88820499 88820499 T C GLUD1 Synonymous SNV P248P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.795 215686 chr11 1861852 1861852 C T rs141603884 TNNI2 Nonsynonymous SNV P51L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 215687 chr10 96541736 96541736 C A rs377674118 CYP2C19 Nonsynonymous SNV F267L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.2 215688 chr10 96702066 96702066 G A rs7900194 CYP2C9 Nonsynonymous SNV R150H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 drug response 7.882 215689 chr20 61929348 61929348 C A rs144861412 COL20A1 Nonsynonymous SNV L57M 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 18.88 215690 chr19 17662700 17662700 G A rs769599401 NIBAN3 Nonsynonymous SNV R583Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.232 215691 chr19 18120682 18120682 T C ARRDC2 Nonsynonymous SNV M223T 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 215692 chr19 19042786 19042786 C T HOMER3 Nonsynonymous SNV R194Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.7 215693 chr12 2694593 2694593 G A rs374857905 CACNA1C Synonymous SNV G797G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.072 215694 chr21 33719350 33719350 G T URB1 Synonymous SNV L1261L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.838 215695 chr21 33744867 33744867 G A rs545537019 URB1 Nonsynonymous SNV S317L 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 33 215696 chr21 34117134 34117134 G A rs149793516 PAXBP1 Nonsynonymous SNV S720L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 215697 chr15 42282322 42282322 T C rs187253693 PLA2G4E Nonsynonymous SNV R528G 0 0.005 0 0 0 2 0 0 0 0 0 0 24.2 215698 chr19 2222333 2222333 T C rs751252417 DOT1L Synonymous SNV S1055S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.015 215699 chr21 38593676 38593676 A C rs766024144 DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 4.6 215700 chr15 43441230 43441230 G A rs748933624 TMEM62 Synonymous SNV S44S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.29 215701 chr10 116046186 116046186 C - VWA2 H496Mfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 215702 chr21 43373587 43373587 G A C2CD2 Synonymous SNV R57R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.052 215703 chr1 155264402 155264402 C T rs758560647 PKLR Nonsynonymous SNV G279E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.43 215704 chr1 155297968 155297968 A C rs759886970 RUSC1 Synonymous SNV T339T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 215705 chr21 45745940 45745940 A G rs147169525 PFKL Nonsynonymous SNV K696E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 215706 chr21 46897375 46897375 C T rs551388856 COL18A1 Nonsynonymous SNV R507W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 215707 chr21 46924428 46924430 CCC - COL18A1 0 0 0.003 0 0 0 0 1 0 0 0 0 215708 chr21 46924435 46924440 GGCCCC - COL18A1 G1122Afs*140 0 0 0.003 0 0 0 0 1 0 0 0 0 215709 chr19 3600141 3600141 G A rs199654283 TBXA2R Synonymous SNV G164G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.14 215710 chr10 135043989 135043989 G A rs543121610 UTF1 Nonsynonymous SNV R66Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.06 215711 chr10 135165541 135165541 G A rs142462504 PRAP1 Synonymous SNV P53P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.715 215712 chr22 21377884 21377884 G A P2RX6 Nonsynonymous SNV C134Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.85 215713 chr1 159842834 159842834 G A rs148876212 CFAP45 Nonsynonymous SNV R493W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 215714 chr19 38621312 38621312 G A rs932048805 SIPA1L3 Nonsynonymous SNV V1015M 0 0 0 2 0 0 0.005 0 0 0 0 0 31 215715 chr2 219339593 219339593 G A rs553674015 USP37 Nonsynonymous SNV P687S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.363 215716 chr11 31824306 31824306 A G PAX6 Synonymous SNV I30I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.896 215717 chr2 219757742 219757742 G A rs545956598 WNT10A Nonsynonymous SNV D335N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 26.5 215718 chr19 39517636 39517636 G A FBXO27 Synonymous SNV A194A 0 0 0 2 0 0 0.005 0 0 0 0 0 6.618 215719 chr22 28394685 28394685 G A rs187345071 TTC28 Synonymous SNV L1654L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.466 215720 chr19 39876717 39876717 G A PAF1 Nonsynonymous SNV P504S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 13.89 215721 chr11 43819938 43819938 A G rs781458508 HSD17B12 Nonsynonymous SNV I118V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 215722 chr19 4054691 4054691 - GCG rs574710232 ZBTB7A A181_S182insA 0 0 0.003 1 0 0 0.003 1 0 0 0 0 215723 chr1 172501617 172501617 G C rs75760494 SUCO Nonsynonymous SNV R2T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 6.416 215724 chr19 41782163 41782163 G A rs149059713 HNRNPUL1 Nonsynonymous SNV S160N 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 215725 chr22 38201582 38201582 G T H1F0 Nonsynonymous SNV A11S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 215726 chr19 42874894 42874894 C T rs369359832 MEGF8 Synonymous SNV A2282A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Likely benign 20.6 215727 chr19 42879858 42879858 G T rs756510671 MEGF8 Nonsynonymous SNV R2423L 0 0 0 2 0 0 0.005 0 0 0 0 0 33 215728 chr22 39813816 39813816 C T rs770156603 TAB1 Nonsynonymous SNV A171V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 215729 chr1 179054945 179054945 C T rs780726010 TOR3A Nonsynonymous SNV R186W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 215730 chr11 1606042 1606042 A G rs141095388 KRTAP5-1 Synonymous SNV A146A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.591 215731 chr22 42473383 42473383 G T rs774965754 PHETA2 Nonsynonymous SNV G29V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 215732 chr2 237123155 237123155 G A rs868198216 ASB18 Synonymous SNV A317A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.9 215733 chr11 4615801 4615801 T C rs751316267 OR52I1 Nonsynonymous SNV V178A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 215734 chr22 50355270 50355270 G C rs4074581 PIM3 Nonsynonymous SNV D143H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 215735 chr2 31564244 31564244 A G rs139515054 XDH Nonsynonymous SNV I1179T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 215736 chr19 45404313 45404313 G T rs762515716 TOMM40 Nonsynonymous SNV L265F 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 215737 chr19 45406340 45406340 C G TOMM40 Nonsynonymous SNV P334A 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 215738 chr22 50926344 50926344 G T MIOX Nonsynonymous SNV K69N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.3 215739 chr11 5424200 5424200 C A OR51J1 Nonsynonymous SNV P125Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 215740 chr11 5462321 5462321 G A rs141201376 OR51I1 Nonsynonymous SNV R142C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 215741 chr11 57068506 57068506 G A rs767208633 TNKS1BP1 Nonsynonymous SNV R1661C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 215742 chr11 5776517 5776517 C T rs765282712 OR52N4 Nonsynonymous SNV H183Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 215743 chr2 10933281 10933281 G A rs763811699 PDIA6 Nonsynonymous SNV R132C 0 0 0.007 0 0 0 0 2 0 0 0 0 27 215744 chr19 929655 929655 C T rs780064122 ARID3A Nonsynonymous SNV P43S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 215745 chr16 24946894 24946894 T C ARHGAP17 Nonsynonymous SNV I519M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 215746 chr19 48571048 48571048 C T rs760373194 PLA2G4C Nonsynonymous SNV G378S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.09 215747 chr19 48698769 48698769 A G rs770762230 ZSWIM9 Nonsynonymous SNV E483G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 215748 chr19 48946972 48946972 G A rs766874004 GRIN2D Synonymous SNV P1263P 0 0 0 2 0 0 0.005 0 0 0 0 0 11.97 215749 chr11 6520052 6520052 C A rs371309119 DNHD1 Nonsynonymous SNV Q203K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.95 215750 chr12 112622219 112622219 C G HECTD4 Nonsynonymous SNV E3527D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 215751 chr11 6560538 6560538 A G rs779198912 DNHD1 Nonsynonymous SNV N1139D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 215752 chr2 127808076 127808076 G A rs112318500 BIN1 Nonsynonymous SNV T324M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 28.9 215753 chr19 49656807 49656807 C T rs144089143 HRC Nonsynonymous SNV S563N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.674 215754 chr11 60882564 60882564 C A CD5 Nonsynonymous SNV P31Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.677 215755 chr11 61071499 61071499 G A DDB1 Synonymous SNV L890L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.52 215756 chr19 1599523 1599523 - GCGCCCACA UQCR11 G31_L32insAVG 0 0 0 3 0 0 0.008 0 0 0 0 0 215757 chr19 50265387 50265387 C T rs148706945 TSKS Synonymous SNV E91E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 14.46 215758 chr2 141806760 141806760 C A rs201982002 LRP1B Synonymous SNV G528G 0 0 0.007 0 0 0 0 2 0 0 0 0 3.758 215759 chr11 64029488 64029488 A G PLCB3 Nonsynonymous SNV M593V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 215760 chr2 158182162 158182162 G A rs374919878 ERMN Nonsynonymous SNV P11L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.876 215761 chr19 51504414 51504414 G A KLK8 Nonsynonymous SNV P4S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 215762 chr19 4217763 4217763 C T rs199645648 ANKRD24 Nonsynonymous SNV T869M 0 0.005 0 1 0 2 0.003 0 0 1 0 0 10.3 215763 chr1 224482094 224482094 A G NVL Synonymous SNV A211A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.243 215764 chr11 12231112 12231112 A G rs2306727 MICAL2 Nonsynonymous SNV I220V 0.003 0 0.003 3 4 0 0.008 1 0 0 0 0 16.51 215765 chr2 98907046 98907046 G T rs765783235 VWA3B Nonsynonymous SNV V697F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 215766 chr19 52033086 52033086 C T rs369117514 SIGLEC6 Nonsynonymous SNV G250R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 215767 chr19 4544352 4544352 C T SEMA6B Nonsynonymous SNV G643E 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 215768 chr19 4685688 4685688 G T DPP9 Nonsynonymous SNV Q661K 0 0 0 2 0 0 0.005 0 0 0 0 0 11.43 215769 chr11 18636431 18636431 C T rs200657411 SPTY2D1 Nonsynonymous SNV G464S 0 0 0 1 0 0 0.003 0 0 0 0 0 22 215770 chr2 86705763 86705763 G C rs763369390 KDM3A Nonsynonymous SNV V741L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.31 215771 chr19 6731229 6731229 T C rs761588015 GPR108 Nonsynonymous SNV Q472R 0 0 0 2 0 0 0.005 0 0 0 0 0 13.84 215772 chr19 52941912 52941912 A T ZNF534 Nonsynonymous SNV H372L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 215773 chr2 95952301 95952301 C A PROM2 Synonymous SNV V674V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.901 215774 chr2 98340823 98340823 C G rs755602828 ZAP70 Synonymous SNV L108L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.033 215775 chr2 182542910 182542910 C A NEUROD1 Synonymous SNV L226L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.08 215776 chr2 183608393 183608393 A G DNAJC10 Synonymous SNV L374L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.171 215777 chr1 234563084 234563084 G A rs551311836 TARBP1 Nonsynonymous SNV A1101V 0.002 0 0 0 2 0 0 0 0 0 0 0 33 215778 chr11 75160595 75160595 C G GDPD5 Nonsynonymous SNV V41L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 215779 chr11 47355127 47355127 C T rs397516004 MYBPC3 Synonymous SNV T1057T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.39 215780 chr11 47355487 47355487 G A rs375776406 MYBPC3 Nonsynonymous SNV L994F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 215781 chr2 201950249 201950249 G T rs200800978 NDUFB3 Stop gain G70X 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Pathogenic/Likely pathogenic 39 215782 chr2 202978072 202978072 C T KIAA2012 Synonymous SNV D555D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.369 215783 chr1 247067327 247067327 T C rs199635904 AHCTF1 Nonsynonymous SNV D297G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 215784 chr1 24841019 24841019 A C RCAN3 Nonsynonymous SNV S53R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 215785 chr11 110104139 110104139 G C rs577555846 RDX Synonymous SNV P123P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.067 215786 chr2 219920580 219920580 C A rs745480431 IHH Synonymous SNV S195S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 215787 chr19 58049814 58049814 C G ZNF549 Nonsynonymous SNV A468G 0 0 0 2 0 0 0.005 0 0 0 0 0 18.79 215788 chr1 2489805 2489805 G A TNFRSF14 Nonsynonymous SNV G68R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 215789 chr19 58806663 58806663 G T rs142227564 ZNF8 Nonsynonymous SNV G497W 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 215790 chr19 58967178 58967178 G C rs532750687 ZNF324B Nonsynonymous SNV Q289H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 215791 chr3 13649665 13649665 C T rs13327200 FBLN2 Synonymous SNV N470N 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 10.27 215792 chr2 230096676 230096676 C T rs540348737 PID1 Nonsynonymous SNV R32H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.964 215793 chr19 6848063 6848063 G A rs138664261 VAV1 Synonymous SNV S667S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.03 215794 chr3 15642910 15642910 C T rs199768149 HACL1 Nonsynonymous SNV A21T 0.001 0 0 0 1 0 0 0 0 0 0 0 35 215795 chr2 239140376 239140376 T C rs867513373 LOC643387 0 0 0.007 0 0 0 0 2 0 0 0 0 10.52 215796 chr3 160958951 160958951 G A NMD3 Nonsynonymous SNV V291M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 215797 chr14 24808704 24808704 A G rs757073868 RIPK3 Synonymous SNV H40H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.588 215798 chr2 241696930 241696930 G - KIF1A T889Pfs*62 0 0 0.003 0 0 0 0 1 0 0 0 0 215799 chr1 44437178 44437178 C T rs760532965 DPH2 Nonsynonymous SNV R67C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.772 215800 chr2 27276806 27276806 G A rs3739090 AGBL5 Nonsynonymous SNV V144M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 215801 chr11 64335133 64335133 T A SLC22A11 Nonsynonymous SNV I374N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 215802 chr1 53333297 53333297 T C rs148472594 ZYG11A Nonsynonymous SNV I151T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 215803 chr12 7045891 7045891 - CAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQ 0.004 0.005 0 0 5 2 0 0 0 0 0 0 215804 chr3 19436739 19436739 G A rs754907543 KCNH8 Synonymous SNV A371A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.45 215805 chr11 66193453 66193453 C A NPAS4 Nonsynonymous SNV T591K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 215806 chr2 42284428 42284428 C T rs149149008 PKDCC Synonymous SNV H430H 0 0 0.007 0 0 0 0 2 0 0 0 0 4.537 215807 chr11 67168203 67168203 G A rs376168687 PPP1CA Synonymous SNV H81H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.508 215808 chr17 3655147 3655147 G A rs148254647 ITGAE Nonsynonymous SNV R564C 0 0.003 0 4 0 1 0.01 0 0 0 0 0 11.98 215809 chr11 71948801 71948801 C T INPPL1 Synonymous SNV P1171P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.745 215810 chr2 55277165 55277165 C T rs201598949 RTN4 Nonsynonymous SNV R91Q 0 0 0.01 0 0 0 0 3 0 0 0 0 25.8 215811 chr1 113254606 113254606 C T rs377437744 PPM1J Nonsynonymous SNV R305H 0 0 0 2 0 0 0.005 0 0 0 0 0 35 215812 chr3 35723283 35723283 G A rs865954266 ARPP21 Nonsynonymous SNV E14K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 215813 chr3 36527708 36527708 C T rs138959225 STAC Synonymous SNV S157S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 215814 chr14 78182211 78182211 G A rs775717711 SLIRP Nonsynonymous SNV D85N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 215815 chr14 88452878 88452878 A G rs56194647 GALC Synonymous SNV L110L 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign 15.12 215816 chr14 88459413 88459413 C A rs113719127 GALC Synonymous SNV L32L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign 16.45 215817 chr11 77920682 77920682 C T rs769630717 USP35 Nonsynonymous SNV T594M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.8 215818 chr1 7895886 7895886 G A rs893988555 PER3 Synonymous SNV G1093G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 215819 chr2 74328006 74328006 C T rs760684333 TET3 Nonsynonymous SNV P1271L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 215820 chr11 82443529 82443529 C G rs767076519 FAM181B Nonsynonymous SNV E415Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 215821 chr2 74687688 74687688 G A WBP1 Synonymous SNV E230E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.534 215822 chr2 85864546 85864546 C T USP39 Nonsynonymous SNV P258L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 215823 chr2 86709106 86709106 C G rs757488163 KDM3A Nonsynonymous SNV L856V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 215824 chr1 150531082 150531082 G A rs766405451 ADAMTSL4 Nonsynonymous SNV G839E 0 0 0 2 0 0 0.005 0 0 0 0 0 29.8 215825 chr3 46062514 46062514 C T rs762567904 XCR1 Nonsynonymous SNV R309Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 215826 chr1 151137561 151137561 C G rs781691795 LYSMD1 Synonymous SNV G58G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.32 215827 chr1 152327535 152327535 A G rs12754184 FLG2 Synonymous SNV G909G 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.011 215828 chr3 48677417 48677417 G A rs200170430 CELSR3 Nonsynonymous SNV R3201W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 215829 chr3 49753901 49753901 C T rs61743872 RNF123 Nonsynonymous SNV P1164L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.74 215830 chr3 112546516 112546516 G A CD200R1L Nonsynonymous SNV P43L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.212 215831 chr3 49933188 49933188 A C rs776401986 MST1R Synonymous SNV T868T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 215832 chr1 153750716 153750716 G A rs201437608 SLC27A3 Nonsynonymous SNV R414Q 0 0 0 3 0 0 0.008 0 0 0 0 1 22.6 215833 chr17 47241497 47241497 C T rs145043273 B4GALNT2 Nonsynonymous SNV R272C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 215834 chr1 154309899 154309899 C T rs767034036 ATP8B2 Nonsynonymous SNV R324C 0 0 0 3 0 0 0.008 0 0 0 0 1 22.9 215835 chr3 52019882 52019882 C T rs757204825 ABHD14A-ACY1, ACY1 Synonymous SNV H58H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.78 215836 chr3 52242107 52242107 T C ALAS1 Nonsynonymous SNV C392R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 215837 chr1 155240714 155240714 G T rs12749700 CLK2 Nonsynonymous SNV R19S 0 0 0 3 0 0 0.008 0 0 0 0 1 22.4 215838 chr11 118245708 118245708 A G UBE4A Nonsynonymous SNV N405S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.88 215839 chr3 53898785 53898785 A C rs138203118 IL17RB Nonsynonymous SNV K320T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 215840 chr1 156437937 156437937 C T rs572441372 MEF2D Nonsynonymous SNV D461N 0 0 0 3 0 0 0.008 0 0 0 0 1 24.1 215841 chr11 119044282 119044282 G A rs376113331 NLRX1 Synonymous SNV T108T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.971 215842 chr20 1876113 1876113 C T rs755781590 SIRPA Nonsynonymous SNV A7V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 215843 chr3 126452023 126452023 C T rs778336980 CHCHD6 Synonymous SNV G123G 0 0 0.007 0 0 0 0 2 0 0 1 0 11.52 215844 chr20 20037425 20037425 A G rs371996568 CFAP61 Nonsynonymous SNV N43S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 215845 chr3 9055466 9055466 C T rs765186433 SRGAP3 Nonsynonymous SNV R601H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 215846 chr3 62177285 62177285 C T rs113199298 PTPRG Synonymous SNV D392D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 215847 chr11 123479411 123479411 G A rs750631307 GRAMD1B Nonsynonymous SNV V337M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 215848 chr3 129305047 129305047 G A rs757581987 PLXND1 Synonymous SNV D563D 0 0 0.01 0 0 0 0 3 0 0 1 0 Likely benign 6.867 215849 chr3 133185680 133185680 G A rs373359574 BFSP2 Synonymous SNV A300A 0.001 0 0.007 0 1 0 0 2 0 0 1 0 15.52 215850 chr3 13546158 13546158 C T rs749223823 HDAC11 Nonsynonymous SNV P261L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.95 215851 chr3 138666249 138666249 C A FOXL2NB Nonsynonymous SNV P15T 0 0 0.007 0 0 0 0 2 0 0 1 0 8.955 215852 chr15 43653273 43653273 A G rs746583185 ZSCAN29 X853Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.972 215853 chr1 160722949 160722949 - TA SLAMF7 *166delinsYENVI* 0 0 0 2 0 0 0.005 0 0 0 0 0 215854 chr4 100534203 100534203 A G rs377727754 MTTP Nonsynonymous SNV N735S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.056 215855 chr1 161168193 161168193 C T rs576949190 ADAMTS4 Synonymous SNV S75S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.99 215856 chr4 103968291 103968291 G A SLC9B2 Nonsynonymous SNV T212I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 215857 chr3 155199200 155199200 G A PLCH1 Nonsynonymous SNV R1539W 0 0 0.01 0 0 0 0 3 0 0 1 0 32 215858 chr15 51980504 51980504 G A SCG3 Nonsynonymous SNV E149K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 215859 chr3 160960321 160960321 C A rs370947525 NMD3 Nonsynonymous SNV F299L 0 0 0.01 0 0 0 0 3 0 0 1 0 25.1 215860 chr20 42679996 42679996 C T rs774725766 TOX2 Synonymous SNV P112P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 215861 chr4 113482122 113482122 C G rs752978550 ZGRF1 Nonsynonymous SNV R1518T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 215862 chr1 169842839 169842839 T A rs61733914 SCYL3 Nonsynonymous SNV M174L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.324 215863 chr1 169857857 169857857 T C SCYL3 Nonsynonymous SNV Y42C 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 215864 chr3 182933871 182933871 C T MCF2L2 Synonymous SNV K794K 0 0 0.007 0 0 0 0 2 0 0 1 0 13.79 215865 chr12 6964689 6964689 C T rs373785473 USP5 Nonsynonymous SNV P79L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.129 215866 chr20 45194884 45194884 G C SLC13A3 Nonsynonymous SNV P443R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 215867 chr1 17297200 17297200 C T rs147926226 CROCC Nonsynonymous SNV R1908C 0.002 0.003 0.01 3 2 1 0.008 3 0 0 0 0 Benign 35 215868 chr3 184290840 184290840 C T rs377256974 EPHB3 Synonymous SNV N244N 0 0 0.007 0 0 0 0 2 0 0 1 0 11.35 215869 chr20 48600706 48600706 C G SNAI1 Nonsynonymous SNV S143C 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 22.8 215870 chr3 191179177 191179177 T G rs199836684 PYDC2 Nonsynonymous SNV F76V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 18.76 215871 chr4 147795931 147795931 C T TTC29 Nonsynonymous SNV E246K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 215872 chr1 180062669 180062669 C G rs750752731 CEP350 Nonsynonymous SNV Q2477E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 215873 chr3 195515745 195515745 G A rs367552105 MUC4 Synonymous SNV A902A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.133 215874 chr1 181724528 181724528 G C CACNA1E Nonsynonymous SNV E1309D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.4 215875 chr12 109017838 109017838 A G SELPLG Synonymous SNV T98T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 215876 chr12 109201425 109201425 C T SSH1 Nonsynonymous SNV A250T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.94 215877 chr15 78572717 78572717 A G rs34555391 DNAJA4 Nonsynonymous SNV N370S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 215878 chr17 76798460 76798460 C T rs77261246 USP36 Nonsynonymous SNV E990K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.466 215879 chr12 19473508 19473508 G A PLEKHA5 Nonsynonymous SNV E539K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 215880 chr17 76810620 76810620 C T rs7210763 USP36 Synonymous SNV P346P 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign 14.61 215881 chr17 76817091 76817091 G A rs8065170 USP36 Synonymous SNV D270D 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Benign 14.25 215882 chr17 76887003 76887003 A G rs59181893 CEP295NL Nonsynonymous SNV M528T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 14.66 215883 chr17 7695607 7695607 G A DNAH2 Nonsynonymous SNV R2364Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 215884 chr17 76968687 76968687 G A rs142003721 LGALS3BP Synonymous SNV C243C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 2.904 215885 chr4 166795101 166795101 G T rs138449910 TLL1 Synonymous SNV V15V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.331 215886 chr1 186275856 186275856 T C PRG4 Synonymous SNV A201A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.77 215887 chr4 166986910 166986910 G A rs150316679 TLL1 Nonsynonymous SNV A695T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.284 215888 chr17 78063955 78063955 A G CCDC40 Synonymous SNV T950T 0 0.005 0 0 0 2 0 0 0 1 0 0 1.99 215889 chr1 1987990 1987990 G A rs774979252 PRKCZ Synonymous SNV R87R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.062 215890 chr4 17660109 17660109 G A FAM184B Nonsynonymous SNV S634L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 215891 chr19 58565415 58565415 T C rs763870475 ZSCAN1 Nonsynonymous SNV M408T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.566 215892 chr12 120762754 120762754 G A rs139136819 PLA2G1B Nonsynonymous SNV S102L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.34 215893 chr12 121094047 121094047 G A rs759280001 CABP1 Nonsynonymous SNV R66H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 215894 chr3 4345060 4345060 C A SETMAR Nonsynonymous SNV F2L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.583 215895 chr3 44496708 44496708 G A ZNF445 Nonsynonymous SNV R112W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 215896 chr12 122618077 122618077 G A rs374527589 MLXIP Synonymous SNV P425P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.733 215897 chr12 123686824 123686824 T C MPHOSPH9 Synonymous SNV A608A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.846 215898 chr4 186560056 186560056 C A rs146275441 SORBS2 Nonsynonymous SNV R359L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.89 215899 chr12 124111674 124111674 C T EIF2B1 Synonymous SNV V133V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.3 215900 chr12 49494423 49494423 T C rs756059271 LMBR1L Synonymous SNV L305L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.717 215901 chr1 202935882 202935882 T G CYB5R1 Nonsynonymous SNV K54Q 0 0 0 4 0 0 0.01 0 0 0 0 0 24 215902 chr21 33740751 33740751 C T rs751128556 URB1 Synonymous SNV A386A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.83 215903 chr21 34861142 34861142 T G DNAJC28 Nonsynonymous SNV N187H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.347 215904 chr21 34923092 34923092 A G SON Nonsynonymous SNV M519V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.9 215905 chr3 49457649 49457663 TGAGGGCCAAATCTT - rs386833683 AMT K95_L99del 0 0 0.003 0 0 0 0 1 0 0 0 0 215906 chr1 205628425 205628425 G A rs143282781 SLC45A3 Synonymous SNV V533V 0 0 0 2 0 0 0.005 0 0 0 0 0 12.57 215907 chr1 205764031 205764031 G A rs151305052 SLC41A1 Synonymous SNV F441F 0 0 0 2 0 0 0.005 0 0 0 0 0 12.58 215908 chr12 52775167 52775167 G A rs139009727 KRT84 Nonsynonymous SNV A352V 0 0 0.007 2 0 0 0.005 2 0 0 0 0 24.2 215909 chr3 51429331 51429331 C A rs782636484 RBM15B Synonymous SNV G167G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 215910 chr3 51517745 51517745 T C DCAF1 Nonsynonymous SNV I34V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.636 215911 chr3 57108134 57108134 G A rs201843696 SPATA12 Nonsynonymous SNV E138K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 215912 chr1 213031959 213031959 C G rs941459032 FLVCR1 Nonsynonymous SNV D55E 0 0 0 2 0 0 0.005 0 0 0 0 0 11.55 215913 chr21 45077977 45077977 T C HSF2BP Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 215914 chr4 47944120 47944120 A G rs201341924 CNGA1 Synonymous SNV Y234Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.598 215915 chr4 52951142 52951142 C T rs138302534 SPATA18 Nonsynonymous SNV R289C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 215916 chr4 54344907 54344907 G C LNX1 Synonymous SNV P400P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.786 215917 chr12 57843425 57843425 G A INHBC Nonsynonymous SNV V227I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.26 215918 chr12 59271214 59271214 C T rs544777434 LRIG3 Nonsynonymous SNV R775Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 215919 chr3 9970080 9970080 C T rs137952141 IL17RC Synonymous SNV P283P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 11.6 215920 chr12 62654186 62654186 G A MIR6125 0 0 0 1 0 0 0.003 0 0 0 0 0 18.9 215921 chr4 100575650 100575650 G A C4orf54 Synonymous SNV A52A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 215922 chr12 71955595 71955595 G A rs964196764 LGR5 Nonsynonymous SNV E202K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 215923 chr4 71655282 71655282 C T rs753296457 RUFY3 Nonsynonymous SNV A437V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 215924 chr4 114823535 114823535 G C rs17046588 ARSJ Nonsynonymous SNV S565R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 215925 chr4 73414490 73414490 G A ADAMTS3 Nonsynonymous SNV A70V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 215926 chr4 74442009 74442009 C T rs146247849 RASSF6 Synonymous SNV A285A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 215927 chr1 228598737 228598737 C T rs759900679 TRIM17 Synonymous SNV V222V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.449 215928 chr4 126370847 126370847 T C FAT4 Synonymous SNV T2894T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.164 215929 chr4 1369196 1369196 C T rs147609449 UVSSA Nonsynonymous SNV R445W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 215930 chr1 23280436 23280436 C A rs887872330 LACTBL1 Nonsynonymous SNV W280C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 215931 chr18 77893700 77893714 AGAACTACACAGTGA - rs770310872 ADNP2 Q135_N140delinsH 0 0.003 0 0 0 1 0 0 0 0 0 0 215932 chr4 152096033 152096033 C T rs771691549 SH3D19 Synonymous SNV L161L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.064 215933 chr16 27789238 27789238 T C KIAA0556 Synonymous SNV N1583N 0.003 0 0 0 4 0 0 0 0 0 0 0 6.702 215934 chr1 237659873 237659873 A G rs764403692 RYR2 Nonsynonymous SNV Y675C 0 0 0 2 0 0 0.005 0 0 0 0 0 28.2 215935 chr16 30038026 30038026 G A rs34362086 TLCD3B Synonymous SNV G66G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.22 215936 chr16 30666710 30666710 A C rs765397547 PRR14 Nonsynonymous SNV K428T 0.005 0 0 0 6 0 0 0 0 0 0 0 10.61 215937 chr4 16024974 16024974 A T PROM1 Synonymous SNV L244L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.023 215938 chr14 21467928 21467928 T C rs2234633 SLC39A2 Nonsynonymous SNV L48P 0.003 0.01 0 3 4 4 0.008 0 0 0 0 0 26.5 215939 chr5 110819889 110819889 G C CAMK4 Nonsynonymous SNV A186P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.076 215940 chr16 50327356 50327356 G C rs201627898 ADCY7 Nonsynonymous SNV R260P 0.005 0 0 0 6 0 0 0 0 0 0 0 24.3 215941 chr4 170037678 170037678 C G rs149220793 SH3RF1 Synonymous SNV S627S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 215942 chr5 112162851 112162851 G A rs747739964 APC Nonsynonymous SNV M467I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 215943 chr12 120907241 120907241 G C SRSF9 Nonsynonymous SNV R58G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 215944 chr4 174459550 174459550 C G rs566758063 HAND2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.766 215945 chr22 42458885 42458885 G A rs765754053 NAGA Synonymous SNV L301L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.28 215946 chr12 122848583 122848583 G A rs150042847 CLIP1 Synonymous SNV G243G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.59 215947 chr4 186066991 186066993 TGG - SLC25A4 V227del 0 0 0.003 0 0 0 0 1 0 0 0 0 215948 chr4 186066994 186066994 T A SLC25A4 Nonsynonymous SNV V227E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 215949 chr12 123477194 123477194 G A PITPNM2 Synonymous SNV C752C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.628 215950 chr22 44532395 44532395 C T rs772783573 PARVB Nonsynonymous SNV T193I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 215951 chr1 26384975 26384975 A T rs751834690 TRIM63 Nonsynonymous SNV I246N 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 215952 chr22 50943706 50943706 C A rs201764060 LMF2 Nonsynonymous SNV W345L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 215953 chr19 17547338 17547338 C A rs566977622 TMEM221 Nonsynonymous SNV V269F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.9 215954 chr5 139751835 139751835 C A SLC4A9 Synonymous SNV G830G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 215955 chr1 27101215 27101215 G A rs762663996 ARID1A Synonymous SNV Q1499Q 0 0 0 2 0 0 0.005 0 0 0 0 0 1.53 215956 chr1 27675619 27675619 G A SYTL1 Nonsynonymous SNV E170K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 215957 chr5 140263136 140263136 G C rs375469569 PCDHA13 Nonsynonymous SNV R428P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 215958 chr13 31903645 31903645 C T rs770035350 B3GLCT Nonsynonymous SNV P446L 0 0 0 1 0 0 0.003 0 0 0 0 0 35 215959 chr1 3394498 3394498 G A ARHGEF16 Synonymous SNV V511V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.765 215960 chr13 32999989 32999989 C T rs374005116 N4BP2L1 Nonsynonymous SNV G95R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.19 215961 chr4 494302 494302 C T PIGG Nonsynonymous SNV P91L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 215962 chr14 65194426 65194426 C T rs201653361 PLEKHG3 Nonsynonymous SNV S26L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 215963 chr1 3807360 3807360 G A rs76727703 C1orf174 Nonsynonymous SNV R131C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.086 215964 chr1 43166576 43166576 C T rs768111769 YBX1 Nonsynonymous SNV R289C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 215965 chr1 43308342 43308342 G A ERMAP Synonymous SNV T289T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.029 215966 chr13 77629887 77629887 T C rs775400229 MYCBP2 Nonsynonymous SNV I4485V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.73 215967 chr2 136566823 136566823 C T rs565913219 LCT Nonsynonymous SNV G1032S 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 215968 chr13 86369741 86369741 C T rs145725721 SLITRK6 Synonymous SNV T301T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 10.75 215969 chr1 44605513 44605513 A G rs200771770 KLF18 Synonymous SNV L597L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.6 215970 chr13 94482726 94482726 C T rs151162530 GPC6 Synonymous SNV R213R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.73 215971 chr1 45292161 45292161 A G rs776299795 PTCH2 Nonsynonymous SNV I992T 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.3 215972 chr14 81606065 81606065 C G rs146738314 TSHR Synonymous SNV G245G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.49 215973 chr5 169020367 169020367 C T rs888252830 SPDL1 Synonymous SNV L116L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.18 215974 chr4 79841773 79841773 A G PAQR3 Nonsynonymous SNV Y286H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 215975 chr14 92600457 92600457 C T rs138644568 CPSF2 Synonymous SNV I84I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.56 215976 chr13 113200091 113200091 G A rs773680992 TUBGCP3 Synonymous SNV L409L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.54 215977 chr13 113839822 113839822 G A PCID2 Stop gain Q174X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 215978 chr2 172563858 172563858 A G rs370644903 DYNC1I2 Synonymous SNV Q114Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.153 215979 chr2 176981853 176981853 G A rs760536872 HOXD10 Nonsynonymous SNV V98I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.28 215980 chr5 10236646 10236646 C T rs745363656 ATPSCKMT Nonsynonymous SNV A130T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 215981 chr5 10391800 10391800 C T rs146211119 MARCHF6 Synonymous SNV D136D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 215982 chr2 179447680 179447680 C T rs757863803 TTN Synonymous SNV K12885K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 215983 chr1 82453556 82453556 C A rs183237089 ADGRL2 Nonsynonymous SNV T1214N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.69 215984 chr14 24646093 24646093 C T rs779198413 REC8 Nonsynonymous SNV R203W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 215985 chr5 38464037 38464037 C T rs368328873 EGFLAM Synonymous SNV L136L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.35 215986 chr5 132545967 132545967 C T rs140712538 FSTL4 Synonymous SNV P544P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.83 215987 chr5 13692232 13692232 G A rs774527322 DNAH5 Nonsynonymous SNV P4579L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 215988 chr5 137289940 137289940 G C FAM13B Nonsynonymous SNV R523G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 215989 chr1 89616143 89616143 G A GBP7 Synonymous SNV L247L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.35 215990 chr15 40660266 40660266 C G DISP2 Synonymous SNV G651G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.737 215991 chr15 40861941 40861941 C A rs751694211 RPUSD2 Nonsynonymous SNV F135L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.77 215992 chr15 41663866 41663866 G A rs374506317 NUSAP1 Synonymous SNV T306T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.235 215993 chr19 47152755 47152755 C A rs748858897 DACT3 Nonsynonymous SNV A67S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.917 215994 chr2 203836280 203836280 A C rs774042298 CARF Nonsynonymous SNV T40P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 215995 chrX 9900534 9900534 G A rs780653452 SHROOM2 Nonsynonymous SNV E1071K 0.001 0 0 5 1 0 0.013 0 0 0 0 2 19.8 215996 chr5 140788686 140788686 C T PCDHGB6 Nonsynonymous SNV S306L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.862 215997 chrX 43626845 43626845 G A rs140262266 MAOB Synonymous SNV I477I 0.001 0 0 2 1 0 0.005 0 0 0 0 1 6.498 215998 chr5 145895450 145895451 AG - rs757941978 GPR151 L76Dfs*8 0 0 0.007 0 0 0 0 2 0 0 0 0 215999 chr5 147481385 147481385 G A rs17107741 SPINK5 Synonymous SNV R448R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.459 216000 chr5 147503518 147503518 C G rs28408445 SPINK5 Nonsynonymous SNV S887R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 19.04 216001 chr2 210887818 210887818 A G KANSL1L Nonsynonymous SNV V898A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.248 216002 chr5 149375615 149375615 A G rs151111796 TIGD6 Synonymous SNV S99S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.073 216003 chr20 18297302 18297302 G A rs753254813 ZNF133 Nonsynonymous SNV E584K 0 0 0 2 0 0 0.005 0 0 0 0 0 6.479 216004 chrX 77301978 77301978 C T rs782062633 ATP7A Nonsynonymous SNV R1394C 0.001 0 0 2 1 0 0.005 0 0 0 0 1 Conflicting interpretations of pathogenicity 35 216005 chr2 215890446 215890446 C T rs143862919 ABCA12 Nonsynonymous SNV G95D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.06 216006 chr5 150885551 150885551 G A rs148621159 FAT2 Nonsynonymous SNV R4209C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 216007 chrX 100547880 100547880 C T rs138473157 TAF7L Nonsynonymous SNV D52N 0.001 0 0 2 1 0 0.005 0 0 0 0 1 2.616 216008 chr15 55964778 55964778 C G rs149494002 PRTG Nonsynonymous SNV V636L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 22.8 216009 chrX 123468868 123468868 A G rs183593707 TEX13D Nonsynonymous SNV K701E 0.001 0 0 2 1 0 0.005 0 0 0 0 1 7.1 216010 chr20 24944483 24944483 G A rs111757368 APMAP Nonsynonymous SNV P406L 0.003 0 0 5 4 0 0.013 0 0 0 0 0 23.4 216011 chr5 166802251 166802251 A G rs577077318 TENM2 Nonsynonymous SNV H92R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.931 216012 chr5 167881061 167881061 A T WWC1 Nonsynonymous SNV T872S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 216013 chr14 88652026 88652026 C T rs113347660 KCNK10 Synonymous SNV T490T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.17 216014 chr6 109190158 109190158 G A rs138675941 ARMC2 Synonymous SNV Q141Q 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 9.911 216015 chr14 90754926 90754926 A C rs116195915 NRDE2 Nonsynonymous SNV F931L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.009 216016 chr14 91360909 91360909 T C RPS6KA5 Nonsynonymous SNV M279V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 216017 chrX 140993910 140993910 - T MAGEC1 Frameshift insertion S241Ffs*14 0.001 0 0 2 1 0 0.005 0 0 0 0 1 216018 chrX 140993912 140993912 - TCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTT MAGEC1 Stop gain S242Pfs*5 0.001 0 0 2 1 0 0.005 0 0 0 0 1 216019 chr20 31023133 31023133 C T rs202098158 ASXL1 Nonsynonymous SNV P812L 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 1.9 216020 chr19 5222731 5222731 G C rs550094738 PTPRS Synonymous SNV P1002P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.782 216021 chr20 34783252 34783252 C T rs147654123 EPB41L1 Nonsynonymous SNV P484L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.4 216022 chr5 194920 194920 C G rs779306000 LRRC14B Nonsynonymous SNV L333V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 216023 chr5 32072364 32072364 A G rs764770620 PDZD2 Nonsynonymous SNV D889G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 216024 chr6 137191139 137191139 A G PEX7 Nonsynonymous SNV K249E 0.002 0 0 0 2 0 0 0 0 0 0 0 30 216025 chr15 27777785 27777785 A G rs759971914 GABRG3 Nonsynonymous SNV M388V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.746 216026 chr5 38409108 38409108 G A rs147603322 EGFLAM Synonymous SNV A183A 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 13.63 216027 chr5 38409188 38409188 G A rs144190586 EGFLAM Nonsynonymous SNV R210Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.2 216028 chr6 144747451 144747451 C T rs115198550 UTRN Nonsynonymous SNV S145L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 216029 chr20 4837653 4837653 G A SLC23A2 Nonsynonymous SNV R640W 0 0 0 2 0 0 0.005 0 0 0 0 0 28.3 216030 chr20 4854715 4854715 G A SLC23A2 Synonymous SNV S323S 0 0 0 2 0 0 0.005 0 0 0 0 0 5.084 216031 chr15 34628623 34628623 C T rs200288608 SLC12A6 Nonsynonymous SNV D87N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.67 216032 chr2 242149769 242149769 C T rs373492939 ANO7 Synonymous SNV I473I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.89 216033 chr2 242743541 242743541 C G rs373185622 GAL3ST2 Nonsynonymous SNV P386R 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 216034 chr20 55904965 55904965 C A rs147571833 SPO11 Nonsynonymous SNV D14E 0 0 0 2 0 0 0.005 0 0 0 0 0 5.856 216035 chr5 5462584 5462584 A G ICE1 Nonsynonymous SNV N1046S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 216036 chr2 26686866 26686866 G A rs747707655 OTOF Nonsynonymous SNV P1000L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 32 216037 chr5 56234752 56234752 T C rs141052193 MIER3 Synonymous SNV P96P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.939 216038 chr5 64976539 64976539 A T rs146958834 SGTB Nonsynonymous SNV S188T 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 12.22 216039 chr2 27354677 27354677 G A PREB Nonsynonymous SNV A283V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 216040 chr5 66396390 66396390 C T rs752330863 MAST4 Nonsynonymous SNV T153M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 216041 chr5 66479380 66479380 G A rs371897533 CD180 Nonsynonymous SNV R431C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 216042 chr2 27527922 27527922 G C TRIM54 Nonsynonymous SNV E203D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 216043 chr6 166864609 166864609 T C rs138692855 RPS6KA2 Synonymous SNV P298P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 216044 chr20 61288127 61288127 C T rs764026334 SLCO4A1 Synonymous SNV F107F 0 0 0 2 0 0 0.005 0 0 0 0 0 2.278 216045 chr15 43656418 43656418 C T rs1025700275 ZSCAN29 Nonsynonymous SNV R462Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 216046 chr15 45389871 45389871 G A rs746970241 DUOX2 Nonsynonymous SNV R1212C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 216047 chr15 49170443 49170443 G A EID1 Nonsynonymous SNV G24S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 216048 chr17 60108916 60108916 G A MED13 Nonsynonymous SNV H300Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 216049 chr17 65104745 65104745 G A rs201230497 HELZ Synonymous SNV S1530S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.331 216050 chr5 80521499 80521499 C T rs200088292 RASGRF2 Synonymous SNV V1208V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.785 216051 chr17 66873706 66873706 C T rs752906016 ABCA8 Nonsynonymous SNV A1345T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 216052 chr5 89925293 89925293 C A rs184127858 ADGRV1 Synonymous SNV V592V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.92 216053 chr6 27368453 27368453 C A rs199734344 ZNF391 Nonsynonymous SNV L102I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.003 216054 chr6 27419551 27419551 T C rs376364494 ZNF184 Nonsynonymous SNV N596S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.445 216055 chr15 60741151 60741151 T C rs768574361 ICE2 Nonsynonymous SNV E535G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 216056 chr6 28121790 28121790 G A rs142219933 ZKSCAN8 Nonsynonymous SNV V391I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 216057 chr16 2231100 2231100 G A rs780353091 CASKIN1 Nonsynonymous SNV P757S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.17 216058 chr17 71420181 71420181 C T rs770497731 SDK2 Nonsynonymous SNV R545H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 216059 chr6 28333981 28333981 G A rs111472689 ZKSCAN3 Synonymous SNV A364A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.955 216060 chr6 2833938 2833938 G A rs143196754 SERPINB1 Synonymous SNV P348P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.495 216061 chr15 69339787 69339787 G A rs2277552 NOX5 Nonsynonymous SNV R548H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 28.2 216062 chr2 73761991 73761991 C G rs201446579 ALMS1 Synonymous SNV T3273T 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.979 216063 chr21 36171613 36171613 A G rs545554349 RUNX1 Nonsynonymous SNV S291P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.1 216064 chr2 74732728 74732728 C T rs150874982 PCGF1 Nonsynonymous SNV R201H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 216065 chr6 112382301 112382301 C A rs121908901 CCN6 Stop gain C70X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 36 216066 chr6 112457428 112457428 T C rs542157463 LAMA4 Nonsynonymous SNV N1104S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.1 216067 chr15 76196408 76196408 C T FBXO22 Nonsynonymous SNV T35I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 216068 chr21 41032816 41032816 C G rs138837929 B3GALT5 Nonsynonymous SNV D110E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.585 216069 chr15 78305545 78305545 T C rs552433664 TBC1D2B Synonymous SNV E630E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.707 216070 chr6 118015327 118015327 G A rs763523987 NUS1 Synonymous SNV T225T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 216071 chr6 43193540 43193540 G A rs753055242 DNPH1 Synonymous SNV A152A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.091 216072 chr6 130164729 130164729 G A rs149741441 TMEM244 Synonymous SNV L47L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.354 216073 chr6 137528120 137528120 G A rs760535699 IFNGR1 Synonymous SNV T60T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 216074 chr6 148865248 148865248 C T rs139892427 SASH1 Nonsynonymous SNV P642L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 216075 chr15 89444806 89444806 G C rs149976603 MFGE8 Nonsynonymous SNV S238R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.811 216076 chr1 109740128 109740128 C G rs61756684 KIAA1324 Synonymous SNV V380V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 11.97 216077 chr6 150710599 150710599 T C IYD Nonsynonymous SNV L97P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 216078 chr6 150713491 150713491 G A rs151181823 IYD Synonymous SNV P127P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.057 216079 chr6 151151896 151151896 A G rs145433805 PLEKHG1 Nonsynonymous SNV Q511R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 216080 chr22 17622074 17622074 C T HDHD5 Synonymous SNV L177L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.72 216081 chr15 91422942 91422942 A G rs143276283 FURIN Nonsynonymous SNV Q399R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.006 216082 chr22 18256394 18256394 C T rs954908100 BID Nonsynonymous SNV R21K 0 0 0 2 0 0 0.005 0 0 0 0 0 2.498 216083 chr22 19711485 19711485 G A rs375285857 GP1BB Nonsynonymous SNV G40E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 24.2 216084 chr22 19808862 19808862 G A rs143297231 GNB1L Nonsynonymous SNV P6L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 216085 chr15 99892665 99892665 C T rs758114554 LRRC28 Synonymous SNV I159I 0 0 0 1 0 0 0.003 0 0 0 0 0 19 216086 chr22 21330960 21330960 C G AIFM3 Nonsynonymous SNV L351V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 216087 chr6 16130851 16130851 G A rs149696224 MYLIP Nonsynonymous SNV G51S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 216088 chr15 102226257 102226257 A G rs200438088 TARS3 Synonymous SNV Y443Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.815 216089 chr16 313383 313383 A G rs201996983 FAM234A Nonsynonymous SNV K365R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.103 216090 chr16 685696 685696 C T rs745382576 METTL26 Synonymous SNV E92E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.578 216091 chr6 93982100 93982100 C T rs34302170 EPHA7 Synonymous SNV L455L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.81 216092 chr16 1035063 1035063 A T rs752255046 SOX8 Nonsynonymous SNV T340S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 216093 chr16 1259400 1259400 C T rs755463348 CACNA1H Synonymous SNV D1244D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 216094 chr16 1591965 1591965 C T rs370042666 TMEM204 Synonymous SNV A108A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 216095 chr22 32110659 32110659 C T rs774088157 PRR14L Nonsynonymous SNV V1056I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.191 216096 chr6 27114952 27114952 C T rs369580045 HIST1H2AH Synonymous SNV A15A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 216097 chr6 27833232 27833232 C A rs969248084 HIST1H2AL Nonsynonymous SNV L34M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 216098 chr22 37603372 37603372 A G rs139412995 SSTR3 Synonymous SNV A157A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.537 216099 chr18 57106979 57106979 C T rs140813794 CCBE1 Nonsynonymous SNV R282Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 35 216100 chr22 39530425 39530425 C T rs775840100 CBX7 Synonymous SNV A193A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.43 216101 chr22 39910264 39910264 T C rs772853422 MIEF1 Nonsynonymous SNV I443T 0 0 0 2 0 0 0.005 0 0 0 0 0 23 216102 chr1 155109359 155109359 G A SLC50A1 Nonsynonymous SNV V26I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.5 216103 chr6 36887436 36887436 A G rs144031629 C6orf89 Nonsynonymous SNV H310R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 216104 chr16 8719645 8719645 G A rs143108500 METTL22 Synonymous SNV V41V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.715 216105 chr6 37631857 37631857 A G rs192433931 MDGA1 Synonymous SNV H31H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.08 216106 chr3 154859854 154859854 G T rs138800488 MME Synonymous SNV V344V 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 Benign 9.367 216107 chr3 154861294 154861294 G A rs138776903 MME Synonymous SNV G417G 0.002 0 0.014 1 2 0 0.003 4 0 0 0 0 Benign 12.79 216108 chr6 43020065 43020065 A - CUL7 G207Efs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 216109 chr16 21157403 21157403 T C rs142706309 DNAH3 Nonsynonymous SNV K42E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.56 216110 chr22 47507457 47507457 C T rs754253135 TBC1D22A Synonymous SNV L383L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.26 216111 chr3 183699615 183699615 G A ABCC5 Synonymous SNV A349A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 216112 chr16 28497807 28497807 C T rs202215629 CLN3 Nonsynonymous SNV V80M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 216113 chr22 50656234 50656234 G A rs771804706 TUBGCP6 Synonymous SNV R1797R 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 10.88 216114 chr1 15987775 15987775 G A rs138904592 RSC1A1 Nonsynonymous SNV R471H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.147 216115 chr22 51176552 51176552 C A LOC105373100 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.982 216116 chr1 16737288 16737288 G A rs768973474 SPATA21 Synonymous SNV G20G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.827 216117 chr7 128865110 128865110 C T AHCYL2 Nonsynonymous SNV P65S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 216118 chr17 4448929 4448929 C T rs150818195 MYBBP1A Synonymous SNV P683P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.67 216119 chr3 195501121 195501121 C - rs758312073 MUC4 T47Pfs*93 0.003 0 0 0 3 0 0 0 0 0 0 0 216120 chr6 85453987 85453987 C A rs907637269 TBX18 Synonymous SNV G332G 0 0 0.007 0 0 0 0 2 0 0 0 0 16.25 216121 chr3 195599257 195599257 G A rs202212058 TNK2 Synonymous SNV A471A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.33 216122 chr3 196675261 196675261 C G rs773033340 PIGZ Synonymous SNV L169L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.452 216123 chr7 141921274 141921274 T G rs75052477 MGAM2 Nonsynonymous SNV S2321R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.294 216124 chr2 113277897 113277897 A G TTL Nonsynonymous SNV K305R 0 0 0 2 0 0 0.005 0 0 0 0 0 10.02 216125 chr16 70399932 70399932 T C rs775207 DDX19A Synonymous SNV I6I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.94 216126 chr16 71509694 71509694 A G rs140092802 ZNF19 Synonymous SNV N252N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.171 216127 chr17 7251744 7251744 C T rs764835032 ACAP1 Nonsynonymous SNV P543L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 216128 chr2 120567493 120567493 C T PTPN4 Stop gain R22X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 216129 chr3 36900261 36900261 C T rs997213384 TRANK1 Synonymous SNV T496T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.89 216130 chr3 37089098 37089098 T A rs41295284 MLH1 Nonsynonymous SNV L249H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 32 216131 chr16 81056442 81056442 A G rs141308961 CENPN X205W 0 0 0 1 0 0 0.003 0 0 0 0 0 5.261 216132 chr16 84070437 84070437 G T SLC38A8 Synonymous SNV A86A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.782 216133 chr17 12896159 12896159 C T rs773456696 ELAC2 Synonymous SNV Q779Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.69 216134 chr2 152394431 152394431 A G rs993086996 NEB Synonymous SNV R5318R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.96 216135 chr16 84520297 84520297 C G rs756863014 MEAK7 Nonsynonymous SNV D300H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.32 216136 chr16 86613362 86613362 C A rs919070291 FOXL1 Nonsynonymous SNV Q345K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 216137 chr7 107258909 107258909 C T rs750333436 BCAP29, DUS4L-BCAP29 Synonymous SNV F242F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.535 216138 chr3 46775684 46775684 A G rs775203238 PRSS46P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 216139 chr2 160994200 160994200 G T rs142197545 ITGB6 Nonsynonymous SNV H374N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Likely benign 0.001 216140 chr16 88747976 88747976 G A rs764129840 SNAI3 Nonsynonymous SNV R75W 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 216141 chr2 163174589 163174589 G A rs147278787 IFIH1 Nonsynonymous SNV R77W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 26 216142 chr17 21318716 21318716 A G rs782558802 KCNJ12, KCNJ18 Nonsynonymous SNV H21R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 216143 chr2 167136962 167136962 T C rs182650126 SCN9A Nonsynonymous SNV I750V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.02 216144 chr16 89259892 89259892 G T rs768717264 CDH15 Nonsynonymous SNV V624L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.909 216145 chr2 168102029 168102031 AAG - rs540406060 XIRP2 E1155del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 216146 chr7 12664737 12664737 G A rs770879170 SCIN Nonsynonymous SNV G41R 0 0 0.007 0 0 0 0 2 0 0 0 0 32 216147 chr7 127894778 127894778 G A rs754432094 LEP Nonsynonymous SNV D156N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 216148 chr16 89775352 89775352 C A rs374177055 VPS9D1 Nonsynonymous SNV R537L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 216149 chr7 128490114 128490114 C T rs201926772 FLNC Nonsynonymous SNV R1762C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.3 216150 chr7 131870089 131870089 C T rs117458710 PLXNA4 Nonsynonymous SNV V1043M 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 216151 chr7 39504031 39504031 C T POU6F2 Nonsynonymous SNV R637C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 216152 chr2 171641215 171641215 C T ERICH2 Stop gain Q30X 0 0 0 2 0 0 0.005 0 0 0 0 0 34 216153 chr2 179465706 179465706 A T rs140714512 TTN Nonsynonymous SNV L9577Q 0.005 0.003 0 4 6 1 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.17 216154 chr2 179489260 179489260 G A TTN Nonsynonymous SNV P5851L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.85 216155 chr1 205538281 205538281 C T MFSD4A Synonymous SNV F28F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.3 216156 chr2 179615995 179615995 G A rs747399267 TTN Nonsynonymous SNV T3711I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.019 216157 chr7 148716209 148716209 A G rs140572691 PDIA4 Nonsynonymous SNV V117A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 216158 chr7 148876301 148876301 G A rs140083111 ZNF398 Nonsynonymous SNV R446Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 216159 chr3 97851654 97851654 C T rs146104026 OR5H1 Nonsynonymous SNV T38I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.47 216160 chr17 7188476 7188476 G A rs199806410 SLC2A4 Nonsynonymous SNV A364T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.56 216161 chr17 7221233 7221233 G A rs199774639 NEURL4 Nonsynonymous SNV P1358L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 216162 chr7 151805130 151805130 C G rs140768014 GALNT11 Synonymous SNV V159V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 216163 chr7 151878035 151878035 T C rs754015217 KMT2C Nonsynonymous SNV M2304V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 216164 chr2 189933587 189933587 C T rs148229627 COL5A2 Synonymous SNV A394A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 19.84 216165 chr17 7366346 7366348 TCA - rs753552629 ZBTB4 D651del 0 0 0 1 0 0 0.003 0 0 0 0 0 216166 chr17 7369534 7369534 G A rs146727968 ZBTB4 Nonsynonymous SNV S196L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.28 216167 chr7 156447338 156447338 C G rs142936732 RNF32 Nonsynonymous SNV Q115E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.517 216168 chr7 157177589 157177589 C T rs199967671 DNAJB6 Synonymous SNV H169H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.508 216169 chr4 109817861 109817861 C T rs775992572 COL25A1 Nonsynonymous SNV A286T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 216170 chr19 17769047 17769047 A G rs777511579 UNC13A Synonymous SNV R197R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.839 216171 chr7 1627380 1627380 G A rs752300748 PSMG3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.266 216172 chr7 20738030 20738030 A G rs775722242 ABCB5 Nonsynonymous SNV I226V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.145 216173 chr7 21932136 21932136 C T rs200166341 DNAH11 Nonsynonymous SNV P4201S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 216174 chr19 18972820 18972820 A T rs751131358 UPF1 Nonsynonymous SNV E831V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 216175 chr1 228505276 228505276 G T rs199865640 OBSCN Nonsynonymous SNV R4558L 0 0 0 2 0 0 0.005 0 0 0 0 0 29.4 216176 chr7 92734491 92734491 A G SAMD9 Nonsynonymous SNV V307A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 216177 chr19 20807521 20807521 T A rs202012793 ZNF626 Stop gain K388X 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 35 216178 chr17 15341416 15341416 C T CDRT4 Nonsynonymous SNV E45K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 216179 chr4 1309187 1309187 G A rs139294232 MAEA Synonymous SNV A85A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.62 216180 chr7 29927740 29927740 A G rs201336980 WIPF3 Nonsynonymous SNV T386A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 216181 chr17 17248223 17248223 G A rs899429112 NT5M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 216182 chr7 99630985 99630985 A T rs763599259 ZKSCAN1 Nonsynonymous SNV D73V 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 0.055 216183 chr1 237780691 237780691 C T rs754811291 RYR2 Nonsynonymous SNV R1941C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 29.4 216184 chr7 44606089 44606089 G C rs199514187 DDX56 Nonsynonymous SNV H468Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.197 216185 chr2 219920121 219920121 G A rs775739359 IHH Synonymous SNV F348F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.43 216186 chr2 220046971 220046971 C T rs768409019 RETREG2 Nonsynonymous SNV P211S 0 0 0 2 0 0 0.005 0 0 0 0 0 5.812 216187 chr17 26370039 26370039 A G rs147063478 NLK Nonsynonymous SNV H47R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.26 216188 chr2 220079182 220079182 G A rs746772305 ABCB6 Nonsynonymous SNV R393C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 216189 chr2 220098913 220098913 A C rs115949101 ANKZF1 Synonymous SNV V159V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 0.122 216190 chr2 220342431 220342431 G A rs979095702 SPEG Nonsynonymous SNV E1584K 0 0 0 2 0 0 0.005 0 0 0 0 0 22 216191 chr17 26913115 26913115 C T SPAG5 Nonsynonymous SNV S533N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.27 216192 chr8 120756618 120756618 C T rs375287888 TAF2 Nonsynonymous SNV D1042N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 216193 chr17 31322590 31322590 A G SPACA3 Synonymous SNV P66P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 216194 chr7 56155359 56155359 C T rs199647333 PHKG1 Nonsynonymous SNV R65Q 0 0 0.007 0 0 0 0 2 0 0 0 0 3.768 216195 chr1 36786214 36786214 A G SH3D21 Synonymous SNV E539E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.219 216196 chr7 80299326 80299326 C A rs201376087 CD36 Nonsynonymous SNV S114Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 216197 chr4 189012861 189012861 G A rs147971195 TRIML2 Nonsynonymous SNV A352V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.41 216198 chr8 144462815 144462815 G A rs774895250 RHPN1 Nonsynonymous SNV A425T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.086 216199 chr4 20706289 20706289 A G rs760675026 PACRGL Nonsynonymous SNV Y20C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 216200 chr7 88963521 88963521 A G rs116778830 ZNF804B Nonsynonymous SNV N409D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.047 216201 chr7 88963925 88963925 G A rs114868448 ZNF804B Synonymous SNV P543P 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign 0.342 216202 chr7 88964538 88964538 C T rs115159731 ZNF804B Nonsynonymous SNV H748Y 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 0.026 216203 chr7 88965497 88965497 C T rs142706585 ZNF804B Synonymous SNV D1067D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 7.845 216204 chr7 935051 935051 C G GET4 Nonsynonymous SNV L326V 0 0 0.003 0 0 0 0 1 0 0 0 0 22 216205 chr2 241903028 241903028 G A rs965037522 CROCC2 Nonsynonymous SNV R1048H 0 0 0 2 0 0 0.005 0 0 0 0 0 12.07 216206 chr17 42082148 42082148 G C rs765197938 NAGS Synonymous SNV A39A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.864 216207 chr17 42335378 42335378 C T rs142905862 SLC4A1 Nonsynonymous SNV A420T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 28.5 216208 chr17 42828492 42828492 G A rs148114647 DBF4B Synonymous SNV P573P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.449 216209 chr2 26534291 26534291 C A rs199709313 ADGRF3 Nonsynonymous SNV A570S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 216210 chr8 11619546 11619546 G C rs190813664 C8orf49 Nonsynonymous SNV W208C 0 0 0.01 0 0 0 0 3 0 0 0 0 21.1 216211 chr2 26686912 26686912 G T rs537308782 OTOF Nonsynonymous SNV P985T 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 216212 chr8 11710911 11710911 C T rs151331859 CTSB Nonsynonymous SNV R18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.35 216213 chr8 117869571 117869571 T C RAD21 Nonsynonymous SNV H208R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 216214 chr1 57333306 57333306 C T rs142045980 C8A Synonymous SNV P34P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.39 216215 chr8 145577471 145577471 G A TMEM249 Nonsynonymous SNV P134S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.888 216216 chr8 121344388 121344388 G A rs115085969 COL14A1 Synonymous SNV P1556P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.67 216217 chr8 125711839 125711839 T A MTSS1 Nonsynonymous SNV T46S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 216218 chr8 128099116 128099116 G A rs1024387883 PRNCR1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 216219 chr4 6086634 6086634 T C rs767948382 JAKMIP1 Nonsynonymous SNV N133S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 216220 chr4 62383069 62383069 C T ADGRL3 Nonsynonymous SNV A31V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 216221 chr4 62383072 62383072 C T ADGRL3 Nonsynonymous SNV P32L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 216222 chr4 651177 651177 C T rs775120495 PDE6B Nonsynonymous SNV T47I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 216223 chr2 32702463 32702463 C T BIRC6 Nonsynonymous SNV R2294W 0 0 0 2 0 0 0.005 0 0 0 0 0 35 216224 chr8 134042132 134042132 C T rs766646972 TG Nonsynonymous SNV T2368I 0 0 0.007 0 0 0 0 2 0 0 0 0 7.85 216225 chr4 6695699 6695699 G A rs187031070 S100P Nonsynonymous SNV V14I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 21.7 216226 chr8 143425822 143425822 C A rs199875184 TSNARE1 Nonsynonymous SNV A84S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 1.871 216227 chr8 22465511 22465511 C T CCAR2 Nonsynonymous SNV L173F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 216228 chr17 59112044 59112044 C T rs754857276 BCAS3 Nonsynonymous SNV P552L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 216229 chr8 29923656 29923656 - TATTGCTGCCAAACAAATATCCTAGTATTCCACCAGTTCCCAAGCCTGTCCAGAACCCTGGTCCTGAAT SARAF 0.001 0 0.003 0 1 0 0 1 0 0 0 0 216230 chr17 62076025 62076025 A G PRR29-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 3.559 216231 chr8 144695697 144695697 G A rs143871496 TSTA3 Synonymous SNV V275V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 9.334 216232 chr1 86252082 86252082 C T rs1014800415 COL24A1 Synonymous SNV K638K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.22 216233 chr2 54023088 54023088 A C rs141925489 ERLEC1 Nonsynonymous SNV K96Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.43 216234 chr8 144919891 144919891 G A rs142916938 NRBP2 Nonsynonymous SNV R293C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 19.73 216235 chr2 55408787 55408787 G A rs200734686 CLHC1 Nonsynonymous SNV A161V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.3 216236 chr2 55408799 55408799 C A rs202079895 CLHC1 Nonsynonymous SNV C157F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.433 216237 chr8 145579773 145579773 G A rs782205578 FBXL6 Stop gain R443X 0 0 0.007 0 0 0 0 2 0 0 0 0 35 216238 chr17 72368279 72368279 A G rs773489405 GPR142 Nonsynonymous SNV D222G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 216239 chr17 72368688 72368688 G A rs781363976 GPR142 Synonymous SNV A358A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.564 216240 chr8 145665515 145665515 G A rs150533498 TONSL Nonsynonymous SNV R457W 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 216241 chr8 145698398 145698398 G A rs756184219 KIFC2 Synonymous SNV A694A 0 0 0.007 0 0 0 0 2 0 0 0 0 10.58 216242 chr1 92445160 92445160 T C rs137957524 BRDT Nonsynonymous SNV I332T 0 0.003 0 4 0 1 0.01 0 0 0 0 0 16.83 216243 chr2 7030348 7030348 A C RSAD2 Nonsynonymous SNV E260D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.922 216244 chr8 146076270 146076270 C A rs559759717 COMMD5 Nonsynonymous SNV V152F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 216245 chr17 72937598 72937598 C T rs762435985 OTOP3 Nonsynonymous SNV R44W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 216246 chr4 90856349 90856349 C A MMRN1 Synonymous SNV L506L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.509 216247 chr8 56675313 56675313 A G rs940820231 TMEM68 Nonsynonymous SNV I69T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 216248 chr5 10650006 10650006 G A rs576517265 ANKRD33B Synonymous SNV V422V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 216249 chr2 75101469 75101469 T C rs761974570 HK2 Synonymous SNV C256C 0 0 0 2 0 0 0.005 0 0 0 0 0 0.841 216250 chr18 67562941 67562941 G A rs142661943 CD226 Synonymous SNV A86A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.891 216251 chr2 80530868 80530868 C T rs199639659 LRRTM1 Nonsynonymous SNV G26E 0 0 0 2 0 0 0.005 0 0 0 0 0 12.93 216252 chr2 84880605 84880605 T C rs766030924 DNAH6 Synonymous SNV H1747H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.338 216253 chr8 23564083 23564083 G C rs747477274 NKX2-6 Nonsynonymous SNV P10R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 25.6 216254 chr18 74624277 74624277 C T rs140129217 ZNF236 Synonymous SNV N961N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.19 216255 chr17 76134473 76134473 G A rs201477740 TMC8 Nonsynonymous SNV R526H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 28.2 216256 chr9 103323753 103323753 A T rs147135400 MSANTD3-TMEFF1, TMEFF1 Nonsynonymous SNV I358F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 216257 chr2 98273951 98273951 C A rs758023188 ACTR1B Nonsynonymous SNV S316I 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 216258 chr3 10167351 10167351 T C BRK1 Synonymous SNV L54L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.11 216259 chr8 70515523 70515523 C T SULF1 Synonymous SNV L386L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 216260 chr18 3164380 3164380 G A rs561012778 MYOM1 Nonsynonymous SNV T466M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 32 216261 chr8 75615877 75615877 T C rs77156590 MIR2052HG 0 0 0.02 0 0 0 0 6 0 0 0 0 6.412 216262 chr18 7043377 7043377 - CCAAAGA LAMA1 Frameshift insertion D335Vfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 216263 chr18 7043380 7043382 TTG - LAMA1 K334del 0 0 0 1 0 0 0.003 0 0 0 0 0 216264 chr18 8069910 8069910 C T rs751312529 PTPRM Synonymous SNV T453T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 216265 chr18 9399456 9399456 C T rs138769456 TWSG1 Synonymous SNV C201C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.43 216266 chr20 39831847 39831847 A C ZHX3 Synonymous SNV S570S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 216267 chr8 95522756 95522758 GGC - VIRMA Q1171_P1172delinsH 0 0 0.003 1 0 0 0.003 1 0 0 0 0 216268 chr18 13621266 13621266 C T rs767437921 LDLRAD4 Nonsynonymous SNV P74L 0 0 0 1 0 0 0.003 0 0 0 0 0 22 216269 chr5 147281278 147281278 T A rs758724116 C5orf46 Synonymous SNV P43P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.567 216270 chr8 99054376 99054376 T C rs781497594 SNORA72 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 216271 chr18 21532998 21532998 A G rs150364364 LAMA3 Nonsynonymous SNV S1596G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.465 216272 chr19 6590966 6590966 C T rs145065586 CD70 Synonymous SNV G16G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 216273 chr9 100367829 100367829 C G rs139574256 TSTD2 Nonsynonymous SNV R350T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.69 216274 chr9 131396588 131396588 G A rs746996134 WDR34 Nonsynonymous SNV S430L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 216275 chr9 104433048 104433048 T C rs75981117 GRIN3A Nonsynonymous SNV N549S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 18.44 216276 chr9 107267043 107267043 C T rs767144728 OR13F1 Nonsynonymous SNV S167F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 216277 chr9 132581083 132581083 G A rs115847158 TOR1A Synonymous SNV L187L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 11.26 216278 chr9 110249841 110249841 C T rs778935707 KLF4 Synonymous SNV K278K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 216279 chr3 126214913 126214913 G A rs199880733 UROC1 Nonsynonymous SNV R493C 0 0 0 2 0 0 0.005 0 0 0 0 0 32 216280 chr5 150924445 150924445 A G rs765858290 FAT2 Synonymous SNV D2081D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.073 216281 chr9 113137717 113137717 C T SVEP1 Nonsynonymous SNV G3511R 0 0 0.003 0 0 0 0 1 0 0 0 0 35 216282 chr19 8174241 8174241 C T rs143694434 FBN3 Synonymous SNV T1496T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 14.19 216283 chr3 127336849 127336849 C T rs377306111 MCM2 Synonymous SNV N646N 0.003 0 0 2 4 0 0.005 0 0 0 0 0 16.22 216284 chr20 48497472 48497472 A G rs140495695 SLC9A8 Synonymous SNV L406L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.035 216285 chr9 114825299 114825299 C T rs80215167 SUSD1 Nonsynonymous SNV E590K 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Likely benign 26.4 216286 chr9 116130625 116130625 C T rs756270735 BSPRY Nonsynonymous SNV T220I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 216287 chr9 116187334 116187334 A G rs953629805 C9orf43 Synonymous SNV K281K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.909 216288 chr9 117389184 117389184 G A rs750206413 TMEM268 Synonymous SNV P75P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.591 216289 chr3 130852725 130852725 C T rs145728410 NEK11 Nonsynonymous SNV T43I 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 216290 chr9 123367851 123367851 G A rs201971897 MEGF9 Nonsynonymous SNV P476S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 216291 chr19 58880441 58880441 G - rs757036844 ZNF837 L87Sfs*320 0.001 0 0 0 1 0 0 0 0 0 0 0 216292 chr9 125075638 125075638 G A MRRF Nonsynonymous SNV G198R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.082 216293 chr3 13415340 13415340 A G NUP210 Nonsynonymous SNV S489P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.3 216294 chr20 20278877 20278877 A G rs116764306 CFAP61 Nonsynonymous SNV H1090R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 216295 chr3 135863977 135863977 G A rs202019860 PPP2R3A Nonsynonymous SNV C405Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.7 216296 chr20 61288209 61288209 T C rs761775669 SLCO4A1 Nonsynonymous SNV Y135H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.7 216297 chr9 139305157 139305157 C T rs776679891 PMPCA Nonsynonymous SNV R13W 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 216298 chr9 127119211 127119211 C T rs377045124 LOC100129034 0.001 0 0.01 0 1 0 0 3 0 0 0 0 5.99 216299 chr3 14180693 14180693 G C rs139590716 TMEM43 Nonsynonymous SNV R299T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 24.1 216300 chr18 72999726 72999726 C T rs759610717 TSHZ1 Synonymous SNV P788P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.541 216301 chr5 179150690 179150690 A C rs774784788 CANX Synonymous SNV A368A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.092 216302 chr5 179290643 179290643 C T rs752613145 TBC1D9B Synonymous SNV A1169A 0.003 0 0 0 4 0 0 0 0 0 0 0 8.592 216303 chr9 131258352 131258352 G A rs138553212 ODF2 Synonymous SNV A692A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.17 216304 chr18 77089297 77089297 G A rs149979572 ATP9B Nonsynonymous SNV V644I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.31 216305 chr19 11031582 11031582 G A rs111988493 CARM1 Synonymous SNV T499T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.589 216306 chr19 498641 498641 G A MADCAM1 Synonymous SNV A161A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.413 216307 chr3 150931290 150931290 A G P2RY14 Nonsynonymous SNV I272T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 216308 chr9 132631183 132631183 G A USP20 Nonsynonymous SNV C393Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22 216309 chr9 133769163 133769163 T C rs778848620 QRFP Synonymous SNV L21L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 216310 chr19 643250 643250 G A rs138373700 FGF22 Nonsynonymous SNV R77H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.5 216311 chr3 151163640 151163640 G C IGSF10 Nonsynonymous SNV P1377A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 216312 chr9 135202712 135202712 T C rs534886444 SETX Nonsynonymous SNV K1425E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.072 216313 chr3 161214763 161214763 A T OTOL1 Nonsynonymous SNV E56D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 216314 chr9 21409583 21409583 C T rs140070687 IFNA8 Synonymous SNV Y136Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.669 216315 chr21 30329795 30329795 G A rs757210083 LTN1 Synonymous SNV L903L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.885 216316 chr9 136004597 136004597 C T rs369104933 RALGDS Nonsynonymous SNV V37I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 216317 chr9 136319670 136319670 C T rs142572218 ADAMTS13 Nonsynonymous SNV R1060W 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 29.1 216318 chr21 32639202 32639202 G A rs139712298 TIAM1 Synonymous SNV S29S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 4.657 216319 chr3 169684626 169684626 A C SEC62 Synonymous SNV R6R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.938 216320 chr19 1468490 1468490 A G rs200862822 APC2 Synonymous SNV L1729L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.876 216321 chr19 1496350 1496350 G A rs775006507 REEP6 Nonsynonymous SNV V139I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.004 216322 chr9 139230494 139230494 G A rs375187707 GPSM1 Nonsynonymous SNV R121H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 216323 chr9 139278072 139278072 G A rs199847101 SNAPC4 Nonsynonymous SNV R517W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 216324 chr9 139748293 139748293 - GGGCCCTG rs761667340 MAMDC4 Frameshift insertion W180Afs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 216325 chr9 139749489 139749489 G A rs766185566 MAMDC4 Nonsynonymous SNV R375Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 216326 chr3 184039806 184039808 AGG - EIF4G1 G284del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 216327 chr9 140352139 140352139 C G rs560559408 NSMF Synonymous SNV A116A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 216328 chr9 140786543 140786543 C T LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 8.136 216329 chr19 4101032 4101032 C T rs201287884 MAP2K2 Synonymous SNV T230T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.25 216330 chr9 18706789 18706789 T C ADAMTSL1 Nonsynonymous SNV V540A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 216331 chr9 23704939 23704939 C T ELAVL2 Nonsynonymous SNV R155H 0 0 0.007 0 0 0 0 2 0 0 0 0 34 216332 chr19 4932737 4932737 C T rs77046863 MIR4747 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 7.178 216333 chr9 84267116 84267116 G A rs371010115 TLE1 Nonsynonymous SNV P129S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 216334 chr9 91792989 91792989 G C SHC3 Synonymous SNV P129P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.278 216335 chr19 6454462 6454462 G A rs200108265 SLC25A23 Synonymous SNV L223L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.02 216336 chr9 35714269 35714269 G A rs35844106 TLN1 Synonymous SNV T1029T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.564 216337 chr9 36121683 36121683 C A rs189943108 RECK Nonsynonymous SNV Q898K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 216338 chr9 37429788 37429788 C T rs748100930 GRHPR Nonsynonymous SNV R185C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 216339 chr3 196910455 196910455 G A DLG1 Synonymous SNV S75S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.79 216340 chr5 82843820 82843820 G A rs775271655 VCAN Nonsynonymous SNV R396H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 216341 chr9 72840739 72840739 G A MAMDC2 Nonsynonymous SNV G662E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 216342 chr9 79117712 79117712 C T rs140433187 GCNT1 Synonymous SNV L139L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 216343 chr9 79981694 79981694 A C rs778697061 VPS13A Nonsynonymous SNV K2754Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 216344 chr9 90500431 90500431 C A rs752849214 SPATA31E1 Nonsynonymous SNV D343E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 216345 chr9 8486299 8486299 G C rs142009246 PTPRD Nonsynonymous SNV L840V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 216346 chr9 91994075 91994075 C A rs753614351 SEMA4D Nonsynonymous SNV K711N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 216347 chr9 95373661 95373661 C T rs138631718 CENPP Synonymous SNV S37S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 216348 chr22 30639829 30639829 G A rs770573444 LIF Nonsynonymous SNV R81C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 6.927 216349 chr22 30642754 30642754 A T LOC91370 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.35 216350 chrM 815 815 A G RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 216351 chrUn_gl000220 122150 122150 - TCCTCCTCCTCT LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 216352 chrX 100494077 100494077 T C rs139926149 DRP2 Synonymous SNV H104H 0.002 0 0.003 2 2 0 0.005 1 1 0 0 1 Benign 0.113 216353 chrX 102968740 102968740 C T rs760058309 TMEM31 Synonymous SNV D107D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.838 216354 chrX 111698774 111698774 G A rs368859857 RTL4 Nonsynonymous SNV R273H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.796 216355 chr6 117647471 117647471 T C rs991660668 ROS1 Nonsynonymous SNV I1825V 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 7.2 216356 chr6 118887401 118887401 G A rs73526183 CEP85L Nonsynonymous SNV P104L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 24.9 216357 chrX 119500453 119500453 C T rs147823363 ATP1B4 Nonsynonymous SNV T46M 0 0 0.014 0 0 0 0 4 0 0 1 0 5.658 216358 chr3 49059929 49059929 C T NDUFAF3 Synonymous SNV L76L 0 0 0 2 0 0 0.005 0 0 0 0 0 17.87 216359 chr21 34625085 34625085 T C rs748201177 IFNAR2 Nonsynonymous SNV V220A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.346 216360 chr21 34861239 34861239 A G rs777540977 DNAJC28 Synonymous SNV Y154Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.011 216361 chr6 136990502 136990502 G A rs138288551 MAP3K5 Synonymous SNV L429L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.502 216362 chr19 11346376 11346376 T C rs755278892 DOCK6 Nonsynonymous SNV S818G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 216363 chr3 50339939 50339939 C T rs782788446 HYAL1 Nonsynonymous SNV R150H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 216364 chr19 12866567 12866567 G A rs150329270 BEST2 Nonsynonymous SNV A285T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 216365 chr19 12875656 12875656 T C rs769407794 HOOK2 Nonsynonymous SNV Y598C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 216366 chr19 13318682 13318687 CTGCTG - CACNA1A Q2324_Q2325del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 216367 chr6 151161234 151161234 C T rs147987190 PLEKHG1 Synonymous SNV P1081P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.31 216368 chr19 14006192 14006192 C T rs765683700 C19orf57 Nonsynonymous SNV V206I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.22 216369 chr3 52563300 52563300 C T rs140922822 NT5DC2 Nonsynonymous SNV A95T 0 0 0 2 0 0 0.005 0 0 0 0 0 30 216370 chr6 152501383 152501383 G A SYNE1 Nonsynonymous SNV A7712V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 216371 chr10 104597011 104597011 C T rs112892739 CYP17A1 Synonymous SNV L36L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.24 216372 chr6 152652403 152652403 C T rs554814659 SYNE1 Nonsynonymous SNV E4402K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 216373 chrX 32328330 32328330 C T DMD Nonsynonymous SNV V655M 0 0 0.007 0 0 0 0 2 0 0 1 0 25.1 216374 chrX 42636990 42636990 T A rs778775351 PPP1R2C Nonsynonymous SNV D114V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.598 216375 chrX 46502684 46502684 A G rs138701264 SLC9A7 Nonsynonymous SNV W535R 0 0.005 0.003 0 0 2 0 1 0 1 0 0 22.5 216376 chrX 47272008 47272008 A T ZNF157 Nonsynonymous SNV E179V 0 0.005 0.003 0 0 2 0 1 0 1 0 0 10.42 216377 chr19 15349710 15349710 C T rs937066745 BRD4 Synonymous SNV Q1288Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.42 216378 chr19 15512335 15512335 C T rs766116652 AKAP8L Nonsynonymous SNV E87K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 216379 chrX 48341118 48341118 G A rs142932029 FTSJ1 Nonsynonymous SNV S161N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.86 216380 chr22 50436614 50436614 C T rs376312584 IL17REL Synonymous SNV G242G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.366 216381 chrX 51639921 51639921 G A rs141719497 MAGED1 Synonymous SNV P390P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.157 216382 chr10 114181756 114181756 C A ACSL5 Nonsynonymous SNV A536D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 216383 chr22 50686199 50686199 G A rs774915465 HDAC10 Synonymous SNV H428H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.087 216384 chr22 50693626 50693626 G A rs772319839 MAPK12 Nonsynonymous SNV R332C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 216385 chr19 16687574 16687574 C T rs376873297 MED26 Nonsynonymous SNV C356Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.914 216386 chr22 50728957 50728957 G A rs760874324 PLXNB2 Synonymous SNV S19S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.711 216387 chr19 16859995 16859995 G A rs141232322 NWD1 Nonsynonymous SNV R181Q 0 0 0 2 0 0 0.005 0 0 0 0 0 1.212 216388 chrX 74375987 74375987 A G rs143380072 ABCB7 Nonsynonymous SNV W41R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 1.422 216389 chr2 100017800 100017800 C G REV1 Synonymous SNV S1219S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 216390 chr10 118443389 118443389 G A HSPA12A Nonsynonymous SNV R250W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 216391 chr10 107012569 107012569 G A rs112848258 SORCS3 Nonsynonymous SNV V1048M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 216392 chr19 19576400 19576400 C T rs768689208 GATAD2A Synonymous SNV P82P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.34 216393 chr10 128974383 128974383 G A rs779113272 INSYN2A Nonsynonymous SNV R93C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 216394 chr22 24087182 24087182 T C ZNF70 Nonsynonymous SNV K49R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 216395 chr19 30021124 30021124 G A rs756416884 VSTM2B Synonymous SNV A232A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 216396 chr10 120871425 120871425 C T rs142410714 DENND10 Nonsynonymous SNV T33I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 216397 chr22 30770158 30770158 G A rs1019119958 KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 2.024 216398 chr19 34981362 34981362 G A WTIP Nonsynonymous SNV C250Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 216399 chr19 35434449 35434449 G A ZNF30 Synonymous SNV K194K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.649 216400 chr10 15008475 15008475 G A rs141912706 MEIG1 Nonsynonymous SNV S3N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.455 216401 chr19 35610276 35610276 C T rs776657302 FXYD3 Nonsynonymous SNV S56F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 216402 chr10 18835049 18835049 A C rs770201033 NSUN6 Nonsynonymous SNV M267R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 216403 chr10 13166021 13166021 C A rs200114679 OPTN Nonsynonymous SNV N303K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 7.777 216404 chr10 133608171 133608171 G A rs117545743 LINC01164 0 0 0.014 0 0 0 0 4 0 0 0 0 0.02 216405 chr4 15063846 15063846 C T CPEB2 Nonsynonymous SNV R912W 0 0 0 2 0 0 0.005 0 0 0 0 0 35 216406 chr19 54930426 54930426 C T rs749336746 TTYH1 Nonsynonymous SNV S84L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.681 216407 chr10 135020721 135020721 G C KNDC1 Synonymous SNV T1220T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.96 216408 chr2 167094721 167094721 A G rs144941725 SCN9A Synonymous SNV Y1228Y 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.777 216409 chr19 37835668 37835668 G A rs116402786 ZNF875 Nonsynonymous SNV G28R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.51 216410 chr10 15154873 15154873 G A rs768580307 NMT2 Synonymous SNV A420A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 216411 chr19 39361302 39361302 G A rs149104673 RINL Nonsynonymous SNV T311I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.66 216412 chr1 26594993 26594993 A G rs754209054 CEP85 Nonsynonymous SNV H403R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 216413 chr19 39663682 39663682 G A rs763084575 PAK4 Nonsynonymous SNV R110H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 216414 chr4 170190012 170190012 C T SH3RF1 Nonsynonymous SNV G118R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 216415 chr19 40030105 40030105 G A rs762804502 EID2 Synonymous SNV L205L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 216416 chr10 27437906 27437906 G C YME1L1 Nonsynonymous SNV L33V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 216417 chr4 175898002 175898002 T C rs113860730 ADAM29 Synonymous SNV C442C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.003 216418 chr10 3155342 3155342 C T rs758132083 PFKP Stop gain R180X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 216419 chr4 185724570 185724570 G A rs368853187 ACSL1 Synonymous SNV F33F 0 0 0 2 0 0 0.005 0 0 0 0 0 15.18 216420 chr4 186380315 186380315 A C rs34396844 CCDC110 Nonsynonymous SNV Y439D 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 216421 chr19 41932127 41932127 G A rs137913069 B3GNT8 Nonsynonymous SNV S186F 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 26.1 216422 chr19 42719371 42719371 C A DEDD2 Nonsynonymous SNV S121I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 216423 chr10 45499480 45499480 G A ZNF22 Nonsynonymous SNV G222S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.872 216424 chr6 8062813 8062813 C T BLOC1S5 Nonsynonymous SNV R50K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 216425 chr6 80816461 80816461 A G rs376293687 BCKDHB Synonymous SNV A17A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.113 216426 chr1 40092227 40092227 C T rs139544750 HEYL Nonsynonymous SNV M313I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 216427 chr19 44531262 44531262 G A rs759900793 ZNF222 Nonsynonymous SNV D44N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 216428 chr1 42880499 42880499 A G RIMKLA Nonsynonymous SNV S344G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.472 216429 chr4 2939793 2939793 G A rs1051995590 NOP14-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 5.314 216430 chr19 45656231 45656231 G A rs193253806 NKPD1 Synonymous SNV I488I 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 10.35 216431 chr10 55944953 55944953 G A rs142114033 PCDH15 Nonsynonymous SNV R424C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 216432 chr4 36160454 36160454 C A rs766944425 ARAP2 Nonsynonymous SNV V884L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.49 216433 chr19 46024586 46024586 G A rs768555271 VASP Nonsynonymous SNV G117E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 216434 chr10 101150103 101150103 G C CNNM1 Nonsynonymous SNV E855D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.02 216435 chr10 64136072 64136072 G C rs79142251 ZNF365 Nonsynonymous SNV L40F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.1 216436 chr10 64573680 64573680 C T EGR2 Nonsynonymous SNV G240S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 216437 chr19 47127276 47127276 C T rs756395664 PTGIR Synonymous SNV P69P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.14 216438 chr10 74894485 74894485 G A rs201794246 ECD Synonymous SNV D554D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 216439 chr19 47884535 47884535 C T rs138943688 DHX34 Synonymous SNV I1084I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.86 216440 chr1 52825482 52825482 C T CC2D1B Synonymous SNV P279P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 216441 chr10 114925406 114925406 C G rs77673441 TCF7L2 Nonsynonymous SNV P472R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.5 216442 chr10 75331188 75331188 G A rs779253613 USP54 Synonymous SNV C77C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 216443 chr4 57180833 57180833 A C CRACD Nonsynonymous SNV T389P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.055 216444 chr19 49464814 49464814 C T rs369285586 BAX Nonsynonymous SNV T89M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.29 216445 chr10 96006010 96006010 G A rs61751497 PLCE1 Nonsynonymous SNV V602I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.081 216446 chr19 50156582 50156582 C T rs768543853 SCAF1 Nonsynonymous SNV P979L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 216447 chr10 96025409 96025409 C T rs61751499 PLCE1 Synonymous SNV F1045F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.81 216448 chr10 93170225 93170225 C T HECTD2 Synonymous SNV P10P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 216449 chr10 94405224 94405224 C T rs201096319 KIF11 Nonsynonymous SNV T791I 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Uncertain significance 17.97 216450 chr10 96313999 96313999 A G rs58643119 HELLS Synonymous SNV Q90Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.465 216451 chr10 96748635 96748635 C T rs2017319 CYP2C9 Synonymous SNV A441A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.89 216452 chr10 95279509 95279509 T C rs199929244 CEP55 Nonsynonymous SNV V379A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 16.41 216453 chr1 70897905 70897905 G A rs368097625 CTH Synonymous SNV K256K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.09 216454 chr7 102957289 102957289 C G rs750493852 DNAJC2 Nonsynonymous SNV G419A 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 216455 chr10 122630729 122630729 C T rs139749005 WDR11 Nonsynonymous SNV R448W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 216456 chr7 105732273 105732273 A T rs774478348 SYPL1 Nonsynonymous SNV I235N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.134 216457 chr10 96602709 96602709 C T rs370051475 CYP2C19 Synonymous SNV I359I 0 0 0.01 0 0 0 0 3 0 0 0 0 12.36 216458 chr10 96698440 96698440 A G rs114071557 CYP2C9 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 216459 chr7 107329499 107329499 T C rs111033212 SLC26A4 Nonsynonymous SNV F335L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 216460 chr10 99509311 99509311 C T rs760494999 ZFYVE27 Nonsynonymous SNV T93M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 216461 chr4 77676207 77676207 A G rs199617893 SHROOM3 Nonsynonymous SNV E1524G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.07 216462 chr10 129906012 129906012 A C rs780385570 MKI67 Synonymous SNV A1004A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.138 216463 chr19 52090135 52090135 C T rs749606113 ZNF175 Nonsynonymous SNV T184M 0 0 0 1 0 0 0.003 0 0 0 0 0 5.499 216464 chr19 52497060 52497060 A - ZNF615 G429Efs*16 0 0 0 1 0 0 0.003 0 0 0 0 0 216465 chr19 52716249 52716249 C T rs149134744 PPP2R1A Synonymous SNV I52I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 14.93 216466 chr19 53345356 53345356 C T ZNF468 Nonsynonymous SNV G64D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 216467 chr10 115406778 115406778 C T rs150513543 NRAP Synonymous SNV P299P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 216468 chr7 134132753 134132753 C T rs114023160 AKR1B1 Synonymous SNV K96K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 16.65 216469 chr11 102661464 102661464 - GCCAATTCCAGGAAAGTCATGTGCTATCATTTT rs770439399 MMP1 G357_H358insKMIAHDFPGIG 0 0 0.003 0 0 0 0 1 0 0 0 0 216470 chr4 88238256 88238256 T C rs142525792 HSD17B13 Synonymous SNV L110L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.678 216471 chr19 53856584 53856584 C A rs558069073 ZNF845 Nonsynonymous SNV P886T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.44 216472 chr7 135307672 135307672 G T rs370800868 NUP205 Nonsynonymous SNV R1135M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 216473 chr7 138406701 138406701 G A rs199650259 ATP6V0A4 Nonsynonymous SNV R694C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.3 216474 chr4 90857519 90857519 G A rs746568693 MMRN1 Synonymous SNV L896L 0 0 0 2 0 0 0.005 0 0 0 0 0 3.162 216475 chr7 141871153 141871153 T C rs923679830 MGAM2 Synonymous SNV Y1088Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.067 216476 chr7 142566429 142566429 A G rs759448325 EPHB6 Nonsynonymous SNV K448E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 216477 chr11 117647605 117647605 G A rs143374965 DSCAML1 Nonsynonymous SNV R138C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 216478 chr11 111179114 111179114 C A COLCA2 Synonymous SNV T139T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.63 216479 chr19 55752885 55752885 C T rs201368780 PPP6R1 Nonsynonymous SNV R323Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 216480 chr19 55866684 55866684 G A rs188444775 FAM71E2 Nonsynonymous SNV P918L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 216481 chr7 148802608 148802608 G A rs779176209 ZNF425 Nonsynonymous SNV P119S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 216482 chr1 116916856 116916856 C T rs907870037 ATP1A1 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 216483 chr11 121008285 121008285 C T rs142486386 TECTA Nonsynonymous SNV R1033W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 216484 chr19 56009424 56009424 G A rs61748943 SSC5D Nonsynonymous SNV R522H 0 0 0 3 0 0 0.008 0 0 0 0 0 21.8 216485 chr21 27372467 27372467 G A rs202074408 APP Nonsynonymous SNV P243L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 216486 chr5 1239640 1239640 G A rs760667203 SLC6A18 Nonsynonymous SNV G270R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 31 216487 chr5 125912869 125912869 G A rs369859575 ALDH7A1 Synonymous SNV P184P 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 216488 chr5 126755854 126755854 G C MEGF10 Synonymous SNV T515T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.35 216489 chr1 150530433 150530433 C T rs373005024 ADAMTSL4 Synonymous SNV G730G 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.89 216490 chr2 36706744 36706744 G A CRIM1 Nonsynonymous SNV V427I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.83 216491 chr7 151810346 151810346 G A rs540817451 GALNT11 Nonsynonymous SNV G285S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 216492 chr5 130498358 130498358 G C rs759762924 HINT1 Nonsynonymous SNV F41L 0 0 0 2 0 0 0.005 0 0 0 0 0 26.8 216493 chr21 35229122 35229122 C T rs142988236 ITSN1 Synonymous SNV T1243T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 216494 chr1 151811210 151811210 C A rs781095843 C2CD4D Nonsynonymous SNV A86S 0.003 0 0 0 3 0 0 0 1 0 0 0 17.81 216495 chr7 156520689 156520689 G C rs200717387 LMBR1 Nonsynonymous SNV L217V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 216496 chr5 133901945 133901945 G A rs779470752 JADE2 Nonsynonymous SNV R370H 0 0 0 2 0 0 0.005 0 0 0 0 0 15.28 216497 chr19 58050077 58050077 C T rs180734719 ZNF549 Nonsynonymous SNV R556C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 216498 chr11 123516308 123516308 C T SCN3B Nonsynonymous SNV G69D 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 216499 chr11 15257166 15257166 A G rs113337994 INSC Nonsynonymous SNV N355D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 29.8 216500 chr7 24758786 24758786 A C rs148449230 GSDME Nonsynonymous SNV N152K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 216501 chr11 1856623 1856623 G T rs540038185 SYT8 Nonsynonymous SNV R79S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.77 216502 chr5 140588855 140588855 A G rs138927056 PCDHB12 Nonsynonymous SNV I126V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.108 216503 chr11 1271808 1271808 C T rs564994626 MUC5B Synonymous SNV T4566T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.02 216504 chr11 2005417 2005417 G A rs151158170 MRPL23-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.528 216505 chr5 140779777 140779777 A C rs201102949 PCDHGB5 Nonsynonymous SNV I695L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.3 216506 chr10 76868807 76868807 G A rs779866483 DUSP13 Nonsynonymous SNV R37C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 216507 chr11 14666085 14666085 T A rs776115854 PDE3B Nonsynonymous SNV L155Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.7 216508 chr5 140953681 140953681 C T rs182139018 DIAPH1 Nonsynonymous SNV R570H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 216509 chr7 4009052 4009052 G A rs755386327 SDK1 Synonymous SNV V570V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.842 216510 chr7 40174657 40174657 G T rs549157035 SUGCT Nonsynonymous SNV R20I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 216511 chr5 141024243 141024243 G A rs773839285 FCHSD1 Synonymous SNV H513H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.76 216512 chr11 2424715 2424715 G C rs377219189 TSSC4 Synonymous SNV L284L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.799 216513 chr20 10030130 10030130 C T ANKEF1 Stop gain R305X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 216514 chr20 10625523 10625523 T G rs750874909 JAG1 Nonsynonymous SNV I778L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 216515 chr11 17579765 17579765 A G rs189159426 OTOG Nonsynonymous SNV H312R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21 216516 chr10 94834792 94834792 T C CYP26A1 Nonsynonymous SNV L224P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 216517 chr20 20506950 20506950 G A rs201120252 RALGAPA2 Synonymous SNV S1213S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.84 216518 chr2 96993784 96993784 A G rs745373602 ITPRIPL1 Nonsynonymous SNV Q480R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 3.442 216519 chr20 25058388 25058388 C T rs1052628941 VSX1 Synonymous SNV P247P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 216520 chr11 4470950 4470950 T C rs61747517 OR52K2 Synonymous SNV A127A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 216521 chr11 4470976 4470976 A C rs147450058 OR52K2 Nonsynonymous SNV K136T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 216522 chr2 99012980 99012980 G A rs778251470 CNGA3 Synonymous SNV K431K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.378 216523 chr11 47752946 47752946 T C FNBP4 Nonsynonymous SNV E665G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 216524 chr20 33879659 33879659 A T FAM83C Nonsynonymous SNV F150Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 216525 chr1 179989356 179989356 G A CEP350 Nonsynonymous SNV S816N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.31 216526 chr20 35422926 35422926 G A rs200024274 SOGA1 Nonsynonymous SNV R1187W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 216527 chr7 6629944 6629944 C T rs138440296 C7orf26 Synonymous SNV R10R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.04 216528 chr20 37547228 37547228 C T rs376527598 PPP1R16B Synonymous SNV S499S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.64 216529 chr11 45245879 45245879 G A rs779125458 PRDM11 Nonsynonymous SNV R285H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 216530 chr4 177061091 177061091 A C WDR17 Nonsynonymous SNV K470Q 0 0 0 4 0 0 0.01 0 0 0 0 0 24 216531 chr4 184938309 184938309 T G rs754722118 STOX2 Nonsynonymous SNV L885V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.95 216532 chr1 201084430 201084430 C T rs577612898 ASCL5 Nonsynonymous SNV G24D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 216533 chr5 178634705 178634705 C T rs769388945 ADAMTS2 Nonsynonymous SNV D234N 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 3.154 216534 chr11 108709197 108709197 A G DDX10 Nonsynonymous SNV I664V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.983 216535 chr7 99264668 99264668 A G rs572777070 CYP3A5 Synonymous SNV F113F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 216536 chr20 52198321 52198321 C T rs141467941 ZNF217 Nonsynonymous SNV E349K 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 216537 chr20 52645361 52645361 A G BCAS1 Nonsynonymous SNV M98T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.083 216538 chr5 26906844 26906844 T C rs369636006 CDH9 Synonymous SNV S209S 0 0 0 2 0 0 0.005 0 0 0 0 0 8.269 216539 chr5 13770948 13770948 T G rs750623228 DNAH5 Nonsynonymous SNV H3172P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 216540 chr11 117789387 117789431 CCAGCTGGAGATGCCTGGGCTGGAGATGCCCGGCCCGGAGGTGTC - TMPRSS13 A57_P71del 0.002 0 0 3 2 0 0.008 0 0 0 0 0 216541 chr11 119045932 119045932 G - NLRX1 A541Pfs*15 0.001 0 0 1 1 0 0.003 0 0 0 0 0 216542 chr3 132440675 132440675 G C rs1018494927 NPHP3-AS1 0 0.005 0 0 0 2 0 0 0 0 0 0 5.587 216543 chr20 61542164 61542164 G A rs34047884 DIDO1 Synonymous SNV N267N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.915 216544 chr8 120744186 120744186 C T rs755760670 TAF2 Nonsynonymous SNV R1193H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 216545 chr8 128750595 128750595 G C rs745993896 MYC Nonsynonymous SNV E43D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 216546 chr11 58979205 58979205 G A rs369776874 MPEG1 Synonymous SNV F378F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 216547 chr11 59189577 59189577 G A rs182325151 OR5A2 Nonsynonymous SNV P284S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 216548 chr21 42551540 42551540 G A rs200294356 PLAC4 0 0 0 1 0 0 0.003 0 0 0 0 0 2.838 216549 chr21 43411870 43411870 C T rs769759741 ZBTB21 Nonsynonymous SNV E779K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 216550 chr11 60703503 60703503 C T rs763582618 TMEM132A Synonymous SNV G733G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 216551 chr11 60708631 60708631 C T rs899609243 SLC15A3 Synonymous SNV L413L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 216552 chr21 45389127 45389127 G A rs115875072 AGPAT3 Synonymous SNV L159L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.596 216553 chr21 46078056 46078056 G A rs74937137 KRTAP12-3 Nonsynonymous SNV V54M 0 0.003 0.007 1 0 1 0.003 2 0 0 1 0 10.27 216554 chr11 5730356 5730357 TG - TRIM22 V322Tfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 216555 chr21 46233851 46233851 C T rs116059808 SUMO3 Nonsynonymous SNV A64T 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.853 216556 chr21 46320382 46320382 G A rs944565426 ITGB2 Synonymous SNV I250I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 11.86 216557 chr11 64026411 64026411 G A rs754183016 PLCB3 Synonymous SNV A369A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.872 216558 chr21 46687542 46687542 C T rs116713802 POFUT2 Nonsynonymous SNV V367I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.75 216559 chr11 64084994 64084994 T C rs759763606 TRMT112 Nonsynonymous SNV K2R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 216560 chr21 46925158 46925158 A C rs575364982 COL18A1 Synonymous SNV P1170P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.011 216561 chr21 46925161 46925161 G C rs367651350 COL18A1 Synonymous SNV G1171G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.125 216562 chr21 46925862 46925862 C T rs377152291 COL18A1 Synonymous SNV N1243N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 10.76 216563 chr21 46932115 46932115 G T rs61736805 COL18A1 Nonsynonymous SNV V1452L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign/Likely benign 25.3 216564 chr21 46945782 46945782 G T rs57725551 SLC19A1 Synonymous SNV I374I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 5.875 216565 chr11 64453163 64453163 G A rs142349282 NRXN2 Synonymous SNV N345N 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 11.92 216566 chr11 64594616 64594616 A T rs199846528 CDC42BPG Nonsynonymous SNV V1432E 0 0 0.007 0 0 0 0 2 0 0 0 0 28.3 216567 chr11 59189675 59189675 A G OR5A2 Nonsynonymous SNV L251P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 216568 chr22 19423166 19423166 G A rs775471371 MRPL40 Nonsynonymous SNV R57Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 216569 chr1 1356341 1356341 - TCCTCC rs781491190 ANKRD65 E15_Q16insEE 0.001 0 0 0 1 0 0 0 0 0 0 0 216570 chr3 195937570 195937570 G A rs200139256 ZDHHC19 Nonsynonymous SNV P62L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 216571 chr6 10556845 10556845 A G rs780779253 GCNT2 Synonymous SNV K63K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.23 216572 chr11 65819878 65819878 C T rs780449042 SF3B2 Nonsynonymous SNV P8L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 216573 chr8 195685 195685 A G ZNF596 Nonsynonymous SNV I280V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 216574 chr11 66134948 66134948 C G rs773224382 SLC29A2 Nonsynonymous SNV E240D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 216575 chr11 66411534 66411534 T C rs762811250 RBM14-RBM4, RBM4 Synonymous SNV N317N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.29 216576 chr11 6644570 6644570 T C DCHS1 Synonymous SNV E2779E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 216577 chr11 6645989 6645989 G A rs373710080 DCHS1 Synonymous SNV A2419A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.8 216578 chr11 6647481 6647481 G A rs147748847 DCHS1 Synonymous SNV N2165N 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 5.908 216579 chr1 2526767 2526767 G - rs757327398 MMEL1 P511Lfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 216580 chr2 11273614 11273614 C T rs747686504 C2orf50 Synonymous SNV L52L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.661 216581 chr6 110759943 110759943 C T rs35948062 SLC22A16 Nonsynonymous SNV V431I 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 1.446 216582 chr3 32030662 32030662 A G rs200509073 ZNF860 Nonsynonymous SNV I31V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 15.99 216583 chr11 6190635 6190635 G A rs201902095 OR52B2 Nonsynonymous SNV R308W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 17.15 216584 chr11 62433972 62433972 G A rs756860374 CSKMT Nonsynonymous SNV D58N 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 216585 chr22 28501781 28501781 C T TTC28 Synonymous SNV G931G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.146 216586 chr22 29915025 29915025 G C rs957238717 THOC5 Nonsynonymous SNV L487V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 216587 chr11 71954978 71954978 A G PHOX2A Nonsynonymous SNV F24S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 216588 chr1 11300580 11300580 G A rs369221365 MTOR Synonymous SNV Y522Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 7.899 216589 chr22 31492781 31492781 C T rs34292278 SMTN Nonsynonymous SNV R698C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.9 216590 chr22 31529904 31529904 G A rs200120763 INPP5J Synonymous SNV S405S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.235 216591 chr11 64597123 64597123 C T rs746873914 CDC42BPG Nonsynonymous SNV G1263S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.088 216592 chr22 32110938 32110938 C T rs9619227 PRR14L Nonsynonymous SNV D963N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.068 216593 chr22 32111149 32111149 G C rs9621321 PRR14L Synonymous SNV T892T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 1.264 216594 chr22 32545744 32545744 G A C22orf42 Synonymous SNV Y226Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.077 216595 chr22 32831830 32831830 G A rs73884913 BPIFC Nonsynonymous SNV P262L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.23 216596 chr6 132892090 132892090 C G rs17061407 TAAR6 Synonymous SNV T210T 0 0 0 2 0 0 0.005 0 0 0 0 0 4.46 216597 chr11 6549852 6549852 A T rs555156573 DNHD1 Synonymous SNV G646G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 216598 chr3 44683454 44683454 G C rs148794995 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV D65H 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24.5 216599 chr6 138754076 138754076 C T rs762683155 NHSL1 Nonsynonymous SNV R473H 0 0 0 2 0 0 0.005 0 0 0 0 0 13.59 216600 chr1 21894674 21894674 C A ALPL Synonymous SNV A165A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.65 216601 chr22 40365517 40365517 G T GRAP2 Nonsynonymous SNV V152L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.79 216602 chr22 41657521 41657521 G T rs761704032 RANGAP1 Nonsynonymous SNV L182M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 216603 chr11 93466912 93466912 C T rs528050999 MIR1304 0 0 0.003 0 0 0 0 1 0 0 0 0 4.005 216604 chr8 87423943 87423943 G A rs759549299 WWP1 Nonsynonymous SNV A301T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.074 216605 chr11 7064590 7064590 G A NLRP14 Nonsynonymous SNV E445K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 216606 chr9 100076694 100076694 T C CCDC180 Nonsynonymous SNV V204A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 216607 chr11 72307643 72307643 G A PDE2A Synonymous SNV V154V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.51 216608 chr11 75282931 75282931 G A rs369550626 SERPINH1 Nonsynonymous SNV A354T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 216609 chr11 75852279 75852279 C T rs200438816 UVRAG Nonsynonymous SNV T641I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 216610 chr6 159687216 159687216 C T rs571734975 FNDC1 Synonymous SNV F1795F 0 0 0 2 0 0 0.005 0 0 0 0 0 17.18 216611 chr6 160240291 160240291 G A rs150098132 PNLDC1 Nonsynonymous SNV R480Q 0.003 0.003 0.003 3 3 1 0.008 1 0 0 0 0 24.2 216612 chr12 110019269 110019269 C T rs138342076 MVK Synonymous SNV A147A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 216613 chr22 46835223 46835223 G A rs376155844 CELSR1 Synonymous SNV I1423I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.924 216614 chr12 112630458 112630458 G A rs201253775 HECTD4 Synonymous SNV D3076D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.373 216615 chr5 175811373 175811373 G A NOP16 Synonymous SNV A127A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 216616 chr22 50656647 50656647 G A rs149152116 TUBGCP6 Synonymous SNV H1713H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.379 216617 chr1 35260209 35260209 G A rs1051167 GJA4 Nonsynonymous SNV R132H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.27 216618 chr22 50717091 50717091 C T rs375985220 PLXNB2 Synonymous SNV S1527S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.649 216619 chr5 176316502 176316502 C T rs372314303 HK3 Nonsynonymous SNV R265Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.4 216620 chr11 798087 798087 C A rs561741753 PANO1 Synonymous SNV P154P 0.003 0 0 0 3 0 0 0 1 0 0 0 0.193 216621 chr1 37947264 37947264 G A rs755664751 ZC3H12A Nonsynonymous SNV V216M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 216622 chr12 114387907 114387907 T A rs144902333 RBM19 Nonsynonymous SNV K351N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 216623 chr6 170033109 170033109 G A rs558902668 WDR27 Synonymous SNV A528A 0 0 0 2 0 0 0.005 0 0 0 0 0 9.929 216624 chr11 83344294 83344294 C T rs964841955 DLG2 Nonsynonymous SNV G11R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 216625 chr12 119631624 119631624 C T rs112052602 HSPB8 Synonymous SNV N184N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 14.32 216626 chr12 120139465 120139465 C T rs149158991 CIT Nonsynonymous SNV A1794T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.811 216627 chr6 170871058 170871058 G A rs113440919 TBP Synonymous SNV Q58Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.956 216628 chr1 41847477 41847477 A C rs555382137 FOXO6 Nonsynonymous SNV K202Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.1 216629 chr12 121603240 121603240 C T rs140915863 P2RX7 Nonsynonymous SNV T205M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.8 216630 chrX 15332545 15332545 C T rs368002578 ASB11 Nonsynonymous SNV G22R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.889 216631 chr2 101089991 101089991 G A rs201102943 NMS Nonsynonymous SNV R58H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 216632 chr12 122675946 122675946 G A rs77196297 LRRC43 Synonymous SNV A307A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.52 216633 chr6 24832508 24832508 C T rs756114171 RIPOR2 Nonsynonymous SNV G774R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27 216634 chr12 122748133 122748133 A G rs76521771 VPS33A Synonymous SNV A83A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 8.724 216635 chr1 43663306 43663306 C G CFAP57 Nonsynonymous SNV P402R 0.002 0 0 0 2 0 0 0 0 0 0 0 32 216636 chr1 43812465 43812465 C T rs373621350 MPL Nonsynonymous SNV R390C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 216637 chr6 26045884 26045884 C T rs753651183 H3C3 Synonymous SNV D82D 0 0 0 2 0 0 0.005 0 0 0 0 0 8.39 216638 chr1 44447510 44447510 G A B4GALT2 Nonsynonymous SNV E155K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 216639 chrX 48462706 48462706 A G rs143150764 WDR13 Nonsynonymous SNV I309V 0 0 0 2 0 0 0.005 0 0 0 0 1 17.2 216640 chr1 45475928 45475928 G A rs41269099 HECTD3 Synonymous SNV L190L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.747 216641 chr1 45793634 45793634 G C rs114233412 HPDL Nonsynonymous SNV G272R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 216642 chr1 45974510 45974510 T C rs201312386 MMACHC Nonsynonymous SNV F101L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 29.2 216643 chr12 1003758 1003766 CAACTAGTT - rs544395150 WNK1 T1600_S1602del 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 216644 chr9 131038611 131038611 A G rs201725177 SWI5 Nonsynonymous SNV T63A 0.002 0 0 0 2 0 0 0 0 0 0 0 10 216645 chr12 10167138 10167138 T C rs150780667 CLEC12B Synonymous SNV N69N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.552 216646 chr12 132505805 132505805 C T rs926038234 EP400 Synonymous SNV A1543A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 216647 chr12 132547096 132547096 G A rs74479394 EP400 Synonymous SNV Q2728Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.539 216648 chr6 2948627 2948627 C T rs61737420 SERPINB6 Nonsynonymous SNV V360I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 1.466 216649 chr12 14822659 14822659 G A rs150939711 GUCY2C Nonsynonymous SNV R427W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.6 216650 chr2 131520936 131520936 G A rs746075297 AMER3 Nonsynonymous SNV E431K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.5 216651 chr2 135740813 135740813 T C rs375603597 MAP3K19 Nonsynonymous SNV Q1121R 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.277 216652 chr12 18852783 18852783 A G rs141771255 PLCZ1 Synonymous SNV F180F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.708 216653 chr2 136579533 136579533 A C rs752870028 LCT-AS1 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.907 216654 chr9 135772900 135772900 C T rs780115763 TSC1 Nonsynonymous SNV R857Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.5 216655 chrX 128710307 128710307 C A rs754567476 OCRL Nonsynonymous SNV D631E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 216656 chr9 136218160 136218160 T C RPL7A Nonsynonymous SNV V247A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.656 216657 chr1 67833508 67833508 G C IL12RB2 Nonsynonymous SNV G420A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 216658 chr12 31478036 31478036 C G rs77154299 FLJ13224 0 0 0.003 0 0 0 0 1 0 0 0 0 0.123 216659 chr6 42073069 42073069 G A C6orf132 Nonsynonymous SNV R861W 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 216660 chr2 160737622 160737622 G A rs115255933 LY75, LY75-CD302 Nonsynonymous SNV T459M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 216661 chr12 41323661 41323661 G A rs4408370 CNTN1 Nonsynonymous SNV R176Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 216662 chrX 152586046 152586046 A G rs190226244 PNMA6F Synonymous SNV H29H 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 2.794 216663 chr1 89835164 89835168 CCCCA - rs763962341 GBP6 H85Ifs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 216664 chr12 49951250 49951250 G A rs140591831 KCNH3 Synonymous SNV S862S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.583 216665 chr12 50136030 50136030 C T rs372456327 TMBIM6 Synonymous SNV G37G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 216666 chr1 92262854 92262854 A T rs765407857 TGFBR3 Nonsynonymous SNV L79Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.035 216667 chr1 94009718 94009718 C G FNBP1L Nonsynonymous SNV L349V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 216668 chr9 20414371 20414376 CTGCTA - rs781507995 MLLT3 S186_S187del 0.003 0 0 0 3 0 0 0 0 0 0 0 216669 chr4 178272608 178272608 G A rs139121668 NEIL3 Nonsynonymous SNV R315Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.956 216670 chr9 24543692 24543692 G A rs559438846 IZUMO3 Nonsynonymous SNV T178I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 216671 chr12 132414289 132414289 C T rs139227671 PUS1 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.875 216672 chr12 132490760 132490760 C T rs113601340 EP400 Synonymous SNV I1013I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.79 216673 chr12 132539545 132539545 T G rs115940508 EP400 Synonymous SNV T2585T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 11.33 216674 chr12 132635872 132635872 C T rs772358688 NOC4L Synonymous SNV R344R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.274 216675 chr4 186361774 186361774 T A rs761601696 C4orf47 Synonymous SNV A79A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.456 216676 chr12 133219489 133219489 G C rs147500308 POLE Nonsynonymous SNV P1549A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.002 216677 chr1 110020592 110020592 C T rs765847199 SYPL2 Synonymous SNV A203A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.45 216678 chr4 187558038 187558038 T G FAT1 Nonsynonymous SNV K1225Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.8 216679 chr2 190532242 190532242 T C ASNSD1 Nonsynonymous SNV C462R 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 216680 chr1 111060112 111060112 C A rs144405106 KCNA10 Nonsynonymous SNV G433V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 216681 chr12 53910881 53910881 G A rs533120310 LOC100652999 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 216682 chr12 54393783 54393783 G C rs56154542 HOXC-AS1 0 0 0.037 0 0 0 0 11 0 0 5 0 0.383 216683 chr12 55251998 55251998 A G rs375718668 MUCL1 Nonsynonymous SNV D82G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.271 216684 chr11 6567983 6567983 C T rs561752875 DNHD1 Synonymous SNV S1938S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.442 216685 chr11 6592341 6592341 A G rs749987474 DNHD1 Synonymous SNV L4533L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15 216686 chr9 439352 439352 A G rs111535933 DOCK8 Synonymous SNV V1629V 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 11.18 216687 chr12 2558279 2558279 G T rs747320984 CACNA1C Synonymous SNV V205V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.64 216688 chr6 7590502 7590502 G T rs147784961 SNRNP48 Nonsynonymous SNV E4D 0 0 0 2 0 0 0.005 0 0 0 0 0 1.555 216689 chr11 62397397 62397397 G A GANAB Synonymous SNV D428D 0.003 0 0 0 3 0 0 0 0 0 0 0 9.556 216690 chr11 63149670 63149670 - A rs568732086 SLC22A9 Frameshift insertion P336Tfs*5 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 216691 chr9 74586436 74586436 A G rs113134903 C9orf85 Synonymous SNV Q75Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.844 216692 chr12 58013517 58013517 C G LOC101927583 0 0 0.003 0 0 0 0 1 0 0 0 0 1.312 216693 chr12 58163560 58163560 C T rs777311679 METTL1 Nonsynonymous SNV G152S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 216694 chr12 3742862 3742862 A G CRACR2A Nonsynonymous SNV I548T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 216695 chr11 64112446 64112446 G C rs564837359 CCDC88B Synonymous SNV R811R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.022 216696 chr1 150529502 150529503 CC - ADAMTSL4 P614Cfs*81 0.002 0.003 0 0 2 1 0 0 0 0 0 0 216697 chr9 91159341 91159341 T C rs201353888 NXNL2 Nonsynonymous SNV I117T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 216698 chr12 48142325 48142325 C T RAPGEF3 Synonymous SNV R343R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.65 216699 chr7 100013683 100013683 C T rs371908445 ZCWPW1 Synonymous SNV E223E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.912 216700 chr9 94499682 94499682 G T rs121909086 ROR2 Synonymous SNV R205R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 216701 chr12 6936313 6936313 G C rs782372230 GPR162 Nonsynonymous SNV A287P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 216702 chr12 7090771 7090771 G A rs200537873 LPCAT3 Synonymous SNV D161D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 216703 chr11 6554260 6554260 C T DNHD1 Nonsynonymous SNV S784F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.4 216704 chr7 100549803 100549803 C T rs200067471 MUC3A Synonymous SNV C128C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.95 216705 chrX 101970123 101970123 G A rs139789934 ARMCX5-GPRASP2, GPRASP2 Nonsynonymous SNV R109H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 216706 chr1 154315987 154315987 G A rs71628607 ATP8B2 Synonymous SNV L586L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.284 216707 chr11 66475117 66475117 T C rs762188172 SPTBN2 Nonsynonymous SNV N508S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 216708 chrX 119739984 119739984 G A rs148197434 MCTS1 Nonsynonymous SNV R73K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 20.3 216709 chr1 24484272 24484272 G A rs200381326 IFNLR1 Nonsynonymous SNV P304L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 216710 chr11 85622441 85622441 C T CCDC83 Nonsynonymous SNV P264S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 216711 chr1 26581807 26581807 C G CEP85 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.664 216712 chr12 96374581 96374581 C T HAL Nonsynonymous SNV A242T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 216713 chr12 96387718 96387718 A G rs150136984 HAL Nonsynonymous SNV I157T 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 216714 chr4 71500050 71500050 G C ENAM Nonsynonymous SNV G79A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 216715 chr13 101287366 101287366 G A rs138116083 TMTC4 Nonsynonymous SNV A299V 0 0 0.007 0 0 0 0 2 0 0 0 0 26.5 216716 chr12 53926370 53926370 C A ATF7, ATF7-NPFF Nonsynonymous SNV G178V 0.002 0 0 0 2 0 0 0 0 0 0 0 28 216717 chr2 233127939 233127939 G A rs148474013 DIS3L2 Nonsynonymous SNV R483Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 216718 chr12 55759020 55759020 C A rs747428958 OR6C75 Synonymous SNV I42I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.19 216719 chr1 160063077 160063077 C T rs780271038 IGSF8 Nonsynonymous SNV G317S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 216720 chrX 17710564 17710564 G A rs147497359 NHS Synonymous SNV E99E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 8.909 216721 chrX 17744451 17744451 G A rs369653594 NHS Nonsynonymous SNV R544H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 216722 chr1 161068666 161068666 G A rs780012718 KLHDC9 Nonsynonymous SNV R114H 0.002 0 0 0 2 0 0 0 0 0 0 0 17.61 216723 chr7 102769180 102769180 T C rs997237712 NAPEPLD Nonsynonymous SNV Q15R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.56 216724 chr7 1049662 1049662 G A rs759425021 C7orf50 Nonsynonymous SNV R83W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 216725 chr7 107430121 107430121 T C rs781561601 SLC26A3 Nonsynonymous SNV I195V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 216726 chr1 41493920 41493920 C T rs759944500 SCMH1 Synonymous SNV G463G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 216727 chr12 107002612 107002612 C G RFX4 Nonsynonymous SNV N36K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 216728 chrX 40514298 40514298 T C MED14 Synonymous SNV A1329A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.13 216729 chr13 28136794 28136794 T C LNX2 Nonsynonymous SNV H327R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.916 216730 chr12 109971303 109971303 G A UBE3B Synonymous SNV L985L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 216731 chrX 63444922 63444922 G A rs145600139 ASB12 Synonymous SNV H203H 0.003 0 0 0 3 0 0 0 1 0 0 0 1.668 216732 chrX 67941433 67941433 C T rs201336511 STARD8 Synonymous SNV P688P 0.003 0 0 0 3 0 0 0 1 0 0 0 16.88 216733 chr5 102343328 102343328 G C rs200453170 PAM Nonsynonymous SNV G621R 0 0.005 0 2 0 2 0.005 0 0 0 0 0 26.6 216734 chr12 6701627 6701627 G A rs760111195 CHD4 Synonymous SNV A953A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.45 216735 chr13 39438448 39438448 A G rs767487860 FREM2 Nonsynonymous SNV N2563S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 216736 chr1 46655011 46655011 T A rs778579837 POMGNT1 Nonsynonymous SNV S630C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 216737 chr1 183816806 183816806 T C rs774623967 RGL1 Nonsynonymous SNV L80P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 216738 chr10 102289180 102289180 T G rs371166959 NDUFB8 Nonsynonymous SNV M57L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.56 216739 chr1 197065223 197065223 C A rs201285805 ASPM Nonsynonymous SNV W1379C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.4 216740 chr1 197073866 197073866 C T ASPM Synonymous SNV K1505K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.595 216741 chr13 77667346 77667346 T C MYCBP2 Nonsynonymous SNV N3441D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 216742 chr12 88524324 88524324 T G rs765944337 CEP290 Nonsynonymous SNV K172Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.4 216743 chr13 99061642 99061642 G C rs3736866 FARP1 Nonsynonymous SNV G489R 0 0 0.007 0 0 0 0 2 0 0 0 0 24 216744 chr14 104169515 104169515 C T rs753182555 XRCC3 Nonsynonymous SNV D186N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 216745 chr5 140011591 140011591 C T rs748305861 CD14 Synonymous SNV L326L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.694 216746 chr14 104641438 104641438 C G rs201913589 KIF26A Synonymous SNV P771P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.91 216747 chr10 118894016 118894016 A G VAX1 Nonsynonymous SNV S170P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 216748 chr7 150695647 150695647 C T rs867948444 NOS3 Nonsynonymous SNV P232L 0 0 0 2 0 0 0.005 0 0 0 0 0 33 216749 chr7 151093010 151093010 G A rs778854152 WDR86 Nonsynonymous SNV T193M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 216750 chr13 108882521 108882521 G A rs147554903 ABHD13 Nonsynonymous SNV V319I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.074 216751 chr13 113714952 113714952 A T rs138170411 MCF2L Nonsynonymous SNV T101S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.091 216752 chr13 114088085 114088085 G A rs113433954 ADPRHL1 Synonymous SNV C159C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 216753 chr1 215901510 215901510 C T rs55961436 USH2A Synonymous SNV T3976T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.41 216754 chr10 134663925 134663925 C T rs372659504 CFAP46 Synonymous SNV T1925T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.669 216755 chr3 44948616 44948616 C T rs150462940 TGM4 Synonymous SNV I417I 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 18.39 216756 chr14 23573861 23573861 C T rs115815259 LMLN2 Nonsynonymous SNV R90Q 0 0 0.007 0 0 0 0 2 0 0 0 0 14 216757 chr3 45132849 45132849 G A rs370889670 CDCP1 Synonymous SNV R603R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.24 216758 chr3 46244867 46244867 C T rs200413728 CCR1 Nonsynonymous SNV R313Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.41 216759 chr14 24633098 24633098 G C IRF9 Synonymous SNV G169G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 216760 chr10 15183000 15183000 G A rs938831667 NMT2 Nonsynonymous SNV R65W 0.002 0 0 0 2 0 0 0 0 0 0 0 8.139 216761 chr12 42860101 42860101 C T rs1016727048 PRICKLE1 Nonsynonymous SNV V224I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 216762 chr10 15296799 15296799 G A rs745714699 FAM171A1 Synonymous SNV T166T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.79 216763 chr10 15876612 15876612 T C rs187883529 MINDY3 Nonsynonymous SNV I21V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 216764 chr3 47037858 47037858 C G rs377324609 NBEAL2 Nonsynonymous SNV T716S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 216765 chr14 31112570 31112570 A G rs986748328 SCFD1 Nonsynonymous SNV D6G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 216766 chr1 110022033 110022033 G A rs868708758 SYPL2 Nonsynonymous SNV G228R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 216767 chr1 226562016 226562016 T C PARP1 Nonsynonymous SNV T661A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 216768 chr1 227843399 227843399 A C ZNF678 Nonsynonymous SNV H507P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 216769 chr10 26856414 26856414 C T rs150768801 APBB1IP Synonymous SNV S666S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.21 216770 chr12 15650270 15650270 T C PTPRO Synonymous SNV Y147Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.135 216771 chr12 15793760 15793760 T C EPS8 Synonymous SNV Q566Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.42 216772 chr14 39817970 39817970 T C rs750735061 MIA2 Synonymous SNV S581S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.271 216773 chr12 49432365 49432365 G A rs199547661 KMT2D Nonsynonymous SNV A2925V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.95 216774 chr12 49434820 49434820 G C rs201931833 KMT2D Nonsynonymous SNV L2245V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.2 216775 chr10 30336561 30336561 C T rs150437948 JCAD Nonsynonymous SNV A61T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 216776 chr1 230916326 230916326 C T rs143757720 CAPN9 Synonymous SNV N388N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.82 216777 chr1 120437292 120437292 C T ADAM30 Synonymous SNV R556R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.32 216778 chr14 53619174 53619174 C T DDHD1 Nonsynonymous SNV V215M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.483 216779 chr7 48018023 48018023 G A rs145160524 HUS1 Synonymous SNV S95S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.06 216780 chr7 4830967 4830967 G A rs201677317 AP5Z1 Nonsynonymous SNV R636H 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 15.7 216781 chr13 67800737 67800737 T G rs747253560 PCDH9 Synonymous SNV L612L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.904 216782 chr1 247275382 247275382 G T rs752411131 C1orf229 Synonymous SNV R49R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 216783 chr1 152081367 152081367 C A TCHH Nonsynonymous SNV Q1442H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 216784 chr1 152081368 152081368 T G TCHH Nonsynonymous SNV Q1442P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 216785 chr14 64688371 64688371 C T rs765716455 SYNE2 Synonymous SNV T235T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 216786 chr1 152084028 152084030 CTC - rs765971497 TCHH E555del 0.003 0 0 0 4 0 0 0 0 0 0 0 216787 chr10 49783699 49783699 T A ARHGAP22 Nonsynonymous SNV N80I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.947 216788 chr14 72176154 72176154 G A rs148790749 SIPA1L1 Synonymous SNV S1327S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.302 216789 chr10 50959962 50959962 C G rs138462834 OGDHL Nonsynonymous SNV W11C 0.003 0 0 0 3 0 0 0 0 0 0 0 33 216790 chr14 74196526 74196526 C T rs200009619 ELMSAN1 Nonsynonymous SNV V638M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 216791 chr1 154983423 154983423 T C rs546517984 ZBTB7B Nonsynonymous SNV S10P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.26 216792 chr1 155823093 155823093 G A GON4L Nonsynonymous SNV P160L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.167 216793 chr1 249141649 249141649 C T ZNF672 Nonsynonymous SNV A59V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.33 216794 chr14 105178036 105178036 G T rs377340315 INF2 Nonsynonymous SNV G830V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.07 216795 chr2 3428319 3428319 A G TRAPPC12 Synonymous SNV L434L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.23 216796 chr10 71164750 71164750 G A rs117605989 TACR2 Synonymous SNV S343S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.295 216797 chr14 91739047 91739047 G A rs765719483 CCDC88C Synonymous SNV S2003S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.139 216798 chr7 8167753 8167753 T G rs34160190 ICA1 Synonymous SNV A285A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.238 216799 chr7 86468660 86468660 G A rs375932723 GRM3 Synonymous SNV S610S 0 0 0 2 0 0 0.005 0 0 0 0 0 8.248 216800 chr3 119344054 119344054 A G PLA1A Nonsynonymous SNV I193V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 216801 chr10 73563027 73563027 C T rs111033483 CDH23 Synonymous SNV Y334Y 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.17 216802 chr10 74882044 74882044 T G rs149066778 NUDT13 Nonsynonymous SNV L112R 0.003 0 0 0 4 0 0 0 0 0 0 0 24.5 216803 chr10 75556612 75556612 A G rs757993420 ZSWIM8 Synonymous SNV P1033P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 216804 chr14 21215919 21215919 G A rs200399429 EDDM3A Synonymous SNV L60L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.057 216805 chr7 92207009 92207009 C T FAM133B Nonsynonymous SNV S101N 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.9 216806 chr1 160681544 160681544 T A rs369486040 CD48 Stop gain R4X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 216807 chr2 26437414 26437414 G T rs764851270 HADHA Synonymous SNV A272A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.3 216808 chr7 94991702 94991702 T C PON3 Nonsynonymous SNV Y293C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 216809 chr10 79581377 79581377 C T rs140103012 DLG5 Synonymous SNV T955T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 216810 chr10 81058212 81058212 G A ZMIZ1 Nonsynonymous SNV G514E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 216811 chr7 995037 995037 G A rs536152032 ADAP1 Stop gain Q3X 0 0 0 2 0 0 0.005 0 0 0 0 0 1.941 216812 chr7 99669673 99669673 C T rs201883273 ZNF3 Nonsynonymous SNV G152E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.253 216813 chr7 99691962 99691962 C T rs752169854 MCM7 Nonsynonymous SNV R385H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.1 216814 chr2 27356047 27356047 A C PREB Nonsynonymous SNV F90V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 216815 chr8 100396528 100396528 A G rs749751670 VPS13B Nonsynonymous SNV S973G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 22.5 216816 chr2 27589778 27589778 G A EIF2B4 Stop gain Q368X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 216817 chr15 23048958 23048958 G A rs969336276 NIPA1 Synonymous SNV G212G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.389 216818 chr10 90568102 90568102 C T rs370230378 LIPM Synonymous SNV V65V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 216819 chr2 28815571 28815571 G A rs371622572 PLB1 Synonymous SNV L733L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.09 216820 chr15 26026229 26026229 G A rs201825011 ATP10A Synonymous SNV T197T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 216821 chr15 30034910 30034910 G A rs2229513 TJP1 Synonymous SNV H362H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.14 216822 chr15 31200396 31200396 A G rs79759675 FAN1 Nonsynonymous SNV E437G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.56 216823 chr15 31295101 31295101 G A rs148625654 TRPM1 Nonsynonymous SNV R1285W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 216824 chr5 72866470 72866470 G A rs145573358 UTP15 Nonsynonymous SNV V13I 0.003 0.008 0 4 3 3 0.01 0 0 0 0 0 16.23 216825 chr2 31215813 31215813 C T GALNT14 Nonsynonymous SNV A64T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 216826 chr10 95661013 95661013 C G rs201136283 SLC35G1 Synonymous SNV L288L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 216827 chr10 96005880 96005880 G C rs368426208 PLCE1 Synonymous SNV T558T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.047 216828 chr10 97158795 97158795 A C rs369026056 SORBS1 Nonsynonymous SNV D215E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 216829 chr2 37255987 37255987 T G rs763901341 HEATR5B Nonsynonymous SNV E1146D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 216830 chr2 37267551 37267551 C T rs189702712 HEATR5B Synonymous SNV P989P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.7 216831 chr1 173569289 173569289 G A rs376913702 SLC9C2 Synonymous SNV F65F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.281 216832 chr14 31055967 31055967 C T rs148066743 G2E3 Synonymous SNV Y27Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 216833 chr2 44047136 44047136 T C rs140899003 ABCG5 Nonsynonymous SNV I523V 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 216834 chr11 1016253 1016253 A G rs201597979 MUC6 Nonsynonymous SNV L2183S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 216835 chr1 179599903 179599903 T C rs142951545 TDRD5 Nonsynonymous SNV V325A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 216836 chr2 47278908 47278908 G A rs758259662 TTC7A Nonsynonymous SNV A327T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 216837 chr15 42853561 42853561 T C rs151153391 HAUS2 Nonsynonymous SNV M86T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.96 216838 chr2 48936157 48936157 G A rs61996322 LHCGR Synonymous SNV L204L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 7.407 216839 chr8 125074138 125074138 G T rs373293197 FER1L6 Nonsynonymous SNV V1065L 0 0 0 2 0 0 0.005 0 0 0 0 0 33 216840 chr13 111109204 111109204 - GTGCGT rs761893253 COL4A2-AS2 Q289_G290insTH 0.005 0 0 0 6 0 0 0 0 0 0 0 216841 chr13 111109209 111109209 - TGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA rs759360698 COL4A2-AS2 Q287_T288insMHGISPTDAWGP 0.005 0 0 0 6 0 0 0 0 0 0 0 216842 chr2 55407774 55407774 C G rs756542965 CLHC1 Nonsynonymous SNV C213S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 216843 chr8 131104232 131104232 G A ASAP1 Synonymous SNV G853G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.03 216844 chr8 131124398 131124398 G A ASAP1 Synonymous SNV D781D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.152 216845 chr14 53080413 53080413 T A rs536981987 GPR137C Nonsynonymous SNV W248R 0.003 0 0 0 4 0 0 0 0 0 0 0 8.708 216846 chr1 200877974 200877974 C T rs200620097 INAVA Nonsynonymous SNV R231W 0.001 0 0 0 1 0 0 0 0 0 0 0 30 216847 chr1 200978071 200978071 G A rs199591058 KIF21B Synonymous SNV A91A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.238 216848 chr1 201021733 201021733 C T rs200042281 CACNA1S Nonsynonymous SNV R1302Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 35 216849 chr14 57938221 57938221 T C rs202244661 CCDC198 Nonsynonymous SNV H247R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 216850 chr15 55838558 55838558 C T rs755971128 PYGO1 Nonsynonymous SNV R308Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 216851 chr2 71163117 71163117 G C rs199559744 ATP6V1B1 Synonymous SNV G11G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.853 216852 chr3 182948803 182948803 C T rs767614039 MCF2L2 Nonsynonymous SNV R622H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.998 216853 chr15 65054667 65054667 C T rs762074711 MIR1272 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 216854 chr15 65140819 65140819 C T rs140743690 PLEKHO2 Nonsynonymous SNV R14W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 216855 chr11 104900466 104900466 T C rs139695105 CASP1 Nonsynonymous SNV N242S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 216856 chr11 10580792 10580792 C T rs117443264 LYVE1 Nonsynonymous SNV E279K 0.005 0 0 1 6 0 0.003 0 0 0 0 0 34 216857 chr3 184026272 184026272 C T PSMD2 Synonymous SNV L691L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.04 216858 chr15 70960919 70960919 C G rs199892116 UACA Nonsynonymous SNV G689R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 216859 chr13 43643118 43643118 T C rs748266523 DNAJC15 Synonymous SNV T71T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.85 216860 chr15 72612195 72612195 C T rs544676808 CELF6 Synonymous SNV G7G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.81 216861 chr13 46115756 46115756 G A rs377474462 ERICH6B Synonymous SNV P644P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.085 216862 chr2 86371805 86371805 C T rs753152526 IMMT Synonymous SNV L620L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.4 216863 chr8 144997329 144997329 C T rs781875346 PLEC Synonymous SNV L2242L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.101 216864 chr15 74426925 74426925 C T rs141520519 ISLR2 Synonymous SNV G610G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 216865 chr8 145000988 145000988 G A rs782703157 PLEC Synonymous SNV F1322F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.82 216866 chr11 114450970 114450970 A G rs777877697 NXPE4 Nonsynonymous SNV V328A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.929 216867 chr2 99790439 99790439 T A rs778121026 MITD1 Nonsynonymous SNV K64N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 216868 chr2 100218060 100218060 C T AFF3 Nonsynonymous SNV C428Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 216869 chr1 222716993 222716993 C A rs148477475 HHIPL2 Nonsynonymous SNV R287L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 216870 chr2 100900853 100900853 C T LONRF2 Synonymous SNV E724E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 216871 chr15 81625161 81625161 G A rs149972652 TMC3 Nonsynonymous SNV R968W 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 18.74 216872 chr15 81637207 81637207 G A rs199835792 TMC3 Nonsynonymous SNV T473I 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 1.535 216873 chr2 102083307 102083307 A G rs755597802 RFX8 Nonsynonymous SNV Y2H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 216874 chr14 100070156 100070156 C T CCDC85C Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 216875 chr14 92583939 92583939 C T rs765193834 NDUFB1 Nonsynonymous SNV V15I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.073 216876 chr6 144832252 144832252 C A UTRN Nonsynonymous SNV T1646N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25 216877 chr1 223976748 223976748 A G TP53BP2 Nonsynonymous SNV M1042T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 216878 chr15 83926845 83926845 T C rs140456087 BNC1 Synonymous SNV A771A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 216879 chr15 84651721 84651721 A G ADAMTSL3 Nonsynonymous SNV D1114G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 216880 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCT SKA3 0.003 0 0 0 3 0 0 0 0 0 0 0 216881 chr2 108869824 108869824 T C rs146458854 SULT1C3 Nonsynonymous SNV S109P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 216882 chr14 94935764 94935766 GAC - rs139361603 SERPINA9 V58del 0.002 0 0 0 2 0 0 0 0 0 0 0 216883 chr14 94964311 94964311 G T rs17090972 SERPINA12 Nonsynonymous SNV Q142K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.003 216884 chr1 227922452 227922452 T A rs151008919 JMJD4 Nonsynonymous SNV M156L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 216885 chr2 112849291 112849291 T C rs768752450 TMEM87B Synonymous SNV G345G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 216886 chr2 113074869 113074869 A G rs201547846 ZC3H6 Synonymous SNV Q312Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.174 216887 chr2 113343850 113343850 G A rs542514193 CHCHD5 Nonsynonymous SNV E35K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 216888 chr8 2044203 2044203 G A rs142047582 MYOM2 Nonsynonymous SNV D748N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 216889 chr6 152605183 152605183 G A rs372219741 SYNE1 Nonsynonymous SNV T5975M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 216890 chr1 232607119 232607119 A G rs763719697 SIPA1L2 Synonymous SNV Y747Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.86 216891 chr2 128910401 128910401 A G rs374171534 UGGT1 Nonsynonymous SNV N687S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.4 216892 chr15 91448920 91448920 G A MAN2A2 Nonsynonymous SNV V168M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 216893 chr8 25101196 25101196 A G rs938252495 DOCK5 Nonsynonymous SNV Y17C 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 216894 chr2 135180420 135180420 A G rs139862656 MGAT5 Nonsynonymous SNV H575R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 216895 chr15 40616525 40616525 - GGC rs930565389 INAFM2 A94_G95insA 0.001 0 0 0 1 0 0 0 0 0 0 0 216896 chr6 16327865 16327882 TGCTGCTGCTGCTGCTGC - ATXN1 Q220_Q225del 0.003 0.005 0 4 4 2 0.01 0 0 0 0 0 216897 chr11 130750661 130750661 G A rs147010503 SNX19 Nonsynonymous SNV R212C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 216898 chr8 30958372 30958372 G A rs201982706 WRN Synonymous SNV T663T 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 12.71 216899 chr14 23790762 23790762 G A PABPN1 Synonymous SNV V28V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.933 216900 chr11 134048592 134048592 G T rs34739733 NCAPD3 Nonsynonymous SNV P907T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.02 216901 chr11 134055275 134055275 C T rs61744119 NCAPD3 Nonsynonymous SNV R731K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.02 216902 chr11 134114944 134114944 C T rs144967670 VPS26B Synonymous SNV D278D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 216903 chr2 162804088 162804088 T C rs200426546 SLC4A10 Synonymous SNV L627L 0.003 0 0 0 3 0 0 0 0 0 0 0 2.582 216904 chr8 38103275 38103275 A C rs148904419 DDHD2 Synonymous SNV I258I 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 1.06 216905 chr15 42042021 42042021 G A rs61757236 MGA Synonymous SNV R1863R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 216906 chr15 42058983 42058983 C G rs61757237 MGA Synonymous SNV L2692L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.844 216907 chr16 1903259 1903259 A C rs770279152 MEIOB Nonsynonymous SNV S215A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 216908 chr15 42457959 42457959 C T VPS39 Nonsynonymous SNV G579D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.973 216909 chr11 1862317 1862317 A G rs201133081 TNNI2 Synonymous SNV P111P 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 216910 chr2 174062851 174062851 G A rs371508555 MAP3K20-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 9.423 216911 chr16 2107138 2107138 C T TSC2 Synonymous SNV G69G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.61 216912 chr14 104473024 104473024 C T rs374185759 TDRD9 Nonsynonymous SNV R641W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 216913 chr2 176987516 176987516 G A rs186057872 HOXD9 Nonsynonymous SNV G7E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.49 216914 chr11 19905849 19905849 C T NAV2 Synonymous SNV S260S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 216915 chr11 20005709 20005709 G A rs779980329 NAV2 Nonsynonymous SNV R831H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 216916 chr16 25255407 25255407 A G ZKSCAN2 Synonymous SNV S560S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 216917 chr16 25266714 25266714 C G ZKSCAN2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 216918 chr15 49882109 49882109 A G rs768287550 FAM227B Synonymous SNV Y67Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.082 216919 chr16 27761418 27761418 A C KIAA0556 Nonsynonymous SNV H1046P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 216920 chr15 55930862 55930862 G A rs759544097 PRTG Synonymous SNV H779H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 216921 chr16 30594248 30594248 T C rs146393937 ZNF785 Nonsynonymous SNV Y284C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 216922 chr16 3063859 3063859 C T rs756996748 CLDN9 Synonymous SNV L166L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.49 216923 chr16 3086725 3086725 G A rs577677301 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 6.548 216924 chr15 59063787 59063787 G A rs201039791 MINDY2 Nonsynonymous SNV D65N 0.002 0 0 0 2 0 0 0 0 0 0 0 19.42 216925 chr2 26534087 26534087 G A rs139522210 ADGRF3 Stop gain R638X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 216926 chr2 187615884 187615884 C T rs79964543 FAM171B Nonsynonymous SNV P250S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 216927 chr2 26998046 26998046 G A rs377523745 SLC35F6 Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 216928 chr8 145584272 145584272 C T rs531845498 SLC52A2 Nonsynonymous SNV L342F 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 15.31 216929 chr2 187697936 187697936 T C rs202026853 ZSWIM2 Synonymous SNV S284S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.14 216930 chr11 36631668 36631668 G A C11orf74 Nonsynonymous SNV M5I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 216931 chr15 68643740 68643740 G C rs75281777 ITGA11 Synonymous SNV R250R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.64 216932 chr2 191399352 191399352 C A rs919593683 NEMP2 Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 216933 chr16 4934022 4934022 G A rs200462007 PPL Nonsynonymous SNV S1545L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 216934 chr15 70366914 70366914 G A rs376875838 TLE3 Synonymous SNV R44R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.78 216935 chr15 72104209 72104209 G A NR2E3 Nonsynonymous SNV A117T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 216936 chr11 45947870 45947870 G A rs141577566 LARGE2 Nonsynonymous SNV R327H 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 216937 chr2 201436162 201436162 A G SGO2 Nonsynonymous SNV M365V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 216938 chr16 53301848 53301848 A T rs367918145 CHD9 Synonymous SNV R1509R 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 4.453 216939 chr11 46726669 46726669 T A ZNF408 Stop gain C465X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 216940 chr2 202272134 202272134 C T rs142689085 TRAK2 Nonsynonymous SNV R93H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 216941 chr15 75632072 75632072 G A rs774484452 COMMD4 Nonsynonymous SNV V92M 0.002 0 0 0 2 0 0 0 0 0 0 0 28 216942 chr15 77407239 77407239 T C rs200476530 PEAK1 Synonymous SNV L1500L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.018 216943 chr9 116855776 116855776 G A rs76303905 KIF12 Nonsynonymous SNV R330C 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 19.95 216944 chr9 117124056 117124056 G A rs57108666 AKNA Synonymous SNV L565L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.421 216945 chr16 67320967 67320967 G A rs371893450 PLEKHG4 Nonsynonymous SNV R916H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 216946 chr9 117791709 117791709 G A rs58547879 TNC Synonymous SNV R2033R 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 11.3 216947 chr2 216238073 216238073 G A rs762690244 FN1 Synonymous SNV S1892S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.91 216948 chr9 117804553 117804553 C T rs61265377 TNC Synonymous SNV R1731R 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 13.44 216949 chr2 61575237 61575237 C A rs200192957 USP34 Nonsynonymous SNV V685L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 216950 chr2 219894875 219894875 G C rs200260682 CFAP65 Nonsynonymous SNV A341G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.343 216951 chr2 220334079 220334079 C T rs200872790 SPEG Synonymous SNV S1231S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.05 216952 chr15 89719113 89719113 C T rs142298746 ABHD2 Synonymous SNV V203V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.09 216953 chr15 90119448 90119448 G A rs761659905 TICRR Nonsynonymous SNV V211M 0.003 0 0 0 4 0 0 0 0 0 0 0 25.4 216954 chr11 4936528 4936528 A G rs142042736 OR51G2 Synonymous SNV S122S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.042 216955 chr9 128002475 128002475 G A rs187155224 HSPA5 Synonymous SNV T156T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.7 216956 chr2 225739385 225739385 T C DOCK10 Nonsynonymous SNV K333E 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 216957 chr2 230272033 230272033 G A DNER Synonymous SNV P546P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 216958 chr9 131482827 131482827 G A rs373837557 PKN3 Nonsynonymous SNV R871H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 216959 chr9 131864818 131864818 C G rs149054165 CRAT Nonsynonymous SNV G164A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 15.91 216960 chr9 13188803 13188803 C T rs192227753 MPDZ Nonsynonymous SNV G782R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 216961 chr16 84493832 84493832 C T rs35332987 ATP2C2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 7.607 216962 chr2 86701944 86701944 A G rs747702363 KDM3A Synonymous SNV L590L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.667 216963 chr2 233633063 233633063 G A KCNJ13 Synonymous SNV S227S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.582 216964 chr9 133779577 133779577 A G rs769624598 FIBCD1 Synonymous SNV N420N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.159 216965 chr11 55432865 55432865 G A rs201388016 OR4C6 Nonsynonymous SNV V75I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 216966 chr9 133936501 133936501 G A rs141918703 LAMC3 Synonymous SNV A746A 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 8.811 216967 chr2 99013259 99013259 C T rs78583671 CNGA3 Synonymous SNV S524S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 10.41 216968 chr16 88666282 88666282 A C rs371225285 ZC3H18 Nonsynonymous SNV E338D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 216969 chr16 1486761 1486761 T C CCDC154 Nonsynonymous SNV R448G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.82 216970 chr2 238287605 238287605 C T COL6A3 Nonsynonymous SNV S317N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 216971 chr2 238419399 238419399 A G MLPH Nonsynonymous SNV E98G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 216972 chr2 238419400 238419400 G C MLPH Nonsynonymous SNV E98D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 216973 chr9 135545418 135545418 G A rs777398023 DDX31 Synonymous SNV G73G 0 0 0 2 0 0 0.005 0 0 0 0 0 11.78 216974 chr5 162958 162958 G C rs746370171 PLEKHG4B Nonsynonymous SNV G924A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.384 216975 chr16 1608030 1608030 C T rs150004786 IFT140 Nonsynonymous SNV D769N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 216976 chr9 136501721 136501721 C G rs781202782 DBH Synonymous SNV L76L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.504 216977 chr16 8998414 8998414 A G USP7 Synonymous SNV L512L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.122 216978 chr16 20792176 20792176 G C rs779380694 ACSM3 Nonsynonymous SNV G260A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.75 216979 chr16 22177636 22177636 G A rs750687877 SDR42E2 Nonsynonymous SNV G245R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 216980 chr3 1369239 1369239 A G CNTN6 Nonsynonymous SNV I290M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.948 216981 chr3 9828748 9828748 G A rs201486781 TADA3 Nonsynonymous SNV P251L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.54 216982 chr16 27709680 27709680 T G KIAA0556 Synonymous SNV S324S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.61 216983 chr11 56510487 56510487 A C OR9G4 Stop gain Y267X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 216984 chr16 28847411 28847411 C T ATXN2L Nonsynonymous SNV P1024L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 216985 chr9 140772549 140772549 - CATGGCGCTGTACAACCCCAT rs769799716 CACNA1B I62_P63insMALYNPI 0.003 0 0.003 6 3 0 0.015 1 0 0 0 0 216986 chr15 31619949 31619949 C T rs202115203 KLF13 Synonymous SNV Y178Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.51 216987 chr15 74468240 74468240 C T rs374795173 ISLR Synonymous SNV P347P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 7.044 216988 chr3 38307526 38307526 A G rs570826979 SLC22A13 Nonsynonymous SNV T59A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.189 216989 chr15 77317887 77317887 G A rs371065077 PSTPIP1 Nonsynonymous SNV R99H 0.001 0.008 0 0 1 3 0 0 0 0 0 0 29.4 216990 chr16 4845747 4845748 CA - SMIM22 T5Rfs*73 0.001 0 0 0 1 0 0 0 0 0 0 0 216991 chr2 178988580 178988580 A G RBM45 Nonsynonymous SNV M337V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.865 216992 chr11 62376557 62376557 C T rs35971607 EML3 Nonsynonymous SNV R270H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 216993 chr11 62569080 62569080 A C NXF1 Nonsynonymous SNV D221E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.04 216994 chr2 179483405 179483405 A G TTN Synonymous SNV I6559I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.79 216995 chr11 63072235 63072235 T C rs753786390 SLC22A10 Nonsynonymous SNV V491A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 216996 chr17 36872027 36872027 T G rs371701573 MLLT6 Nonsynonymous SNV S328A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 216997 chr16 67981234 67981234 C T rs375555598 SLC12A4 Nonsynonymous SNV R693Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 216998 chr16 68405018 68405018 T C rs763732388 SMPD3 Nonsynonymous SNV N356S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 216999 chr7 148716247 148716247 A T rs150428738 PDIA4 Synonymous SNV I104I 0.002 0.008 0.003 2 2 3 0.005 1 0 0 0 0 8.23 217000 chr9 95481487 95481487 T A rs201784829 BICD2 Synonymous SNV A480A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.161 217001 chr3 48457076 48457076 G A rs539447851 PLXNB1 Nonsynonymous SNV T1237M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 217002 chr7 150094441 150094441 C T ZNF775 Nonsynonymous SNV T291I 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 24.5 217003 chr3 49149151 49149151 G A rs186312105 USP19 Nonsynonymous SNV S884F 0.004 0 0 0 5 0 0 0 0 0 0 0 21.9 217004 chr15 59139585 59139585 A G MINDY2 Synonymous SNV G486G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.914 217005 chr3 49699371 49699371 A G rs146951422 BSN Nonsynonymous SNV M3365V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.294 217006 chr3 49743448 49743448 G T rs745562559 RNF123 Nonsynonymous SNV A780S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 217007 chr3 49934810 49934810 G A rs573668188 MST1R Nonsynonymous SNV R590W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 217008 chr5 131546041 131546041 A G rs142426918 P4HA2 Synonymous SNV Y215Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 0.122 217009 chr11 66135279 66135279 G A rs768519730 SLC29A2 Synonymous SNV L204L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 217010 chr11 66249750 66249750 T A rs753992246 DPP3 Nonsynonymous SNV S27T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.41 217011 chr16 75664363 75664363 A C KARS1 Nonsynonymous SNV F461C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 217012 chr3 52365284 52365284 A G DNAH1 Nonsynonymous SNV E331G 0.001 0 0 0 1 0 0 0 0 0 0 0 21 217013 chr16 11782181 11782181 C A TXNDC11 Nonsynonymous SNV W222L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 217014 chr11 67185130 67185130 G A rs528055975 CARNS1 Nonsynonymous SNV G86S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16 217015 chrX 114424891 114424891 G A rs782037075 RBMXL3 Nonsynonymous SNV S296N 0 0 0 2 0 0 0.005 0 0 0 0 0 22 217016 chr11 68773219 68773219 G A rs747025281 MRGPRF Nonsynonymous SNV R187C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 217017 chr3 77542461 77542461 G A rs201218809 ROBO2 Nonsynonymous SNV R245H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 217018 chr17 45473304 45473304 G T EFCAB13 Nonsynonymous SNV D540Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 217019 chr11 74057802 74057802 G A rs143080734 PGM2L1 Synonymous SNV L338L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 217020 chrX 149638206 149638206 G A rs201006027 MAMLD1 Nonsynonymous SNV A96T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 217021 chr10 27044667 27044667 G A rs143322305 ABI1 Nonsynonymous SNV S329F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 217022 chr17 4837243 4837243 C T rs41466145 GP1BA Synonymous SNV T448T 0.001 0.003 0.01 2 1 1 0.005 3 0 0 0 0 9.09 217023 chr16 88502886 88502886 C T rs774968087 ZNF469 Nonsynonymous SNV P3003L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.116 217024 chr16 24580074 24580074 C T RBBP6 Nonsynonymous SNV S654F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 217025 chr3 108279519 108279519 C G rs200378410 CIP2A Nonsynonymous SNV E602Q 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 17.21 217026 chr16 2547034 2547034 C G rs72768728 TBC1D24 Nonsynonymous SNV F295L 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.528 217027 chr16 2579050 2579050 G A rs56015787 AMDHD2 Synonymous SNV L395L 0.004 0 0 0 5 0 0 0 0 0 0 0 11.19 217028 chr16 27802787 27802787 T C GSG1L Synonymous SNV R249R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.36 217029 chr16 28990591 28990591 T C SPNS1 Nonsynonymous SNV M165T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 24.4 217030 chr16 2903977 2903977 G T rs144052257 PRSS22 Synonymous SNV I202I 0.003 0 0 0 4 0 0 0 0 0 0 0 6.334 217031 chr17 5138304 5138304 C T rs75511804 LOC100130950 0 0 0.003 0 0 0 0 1 0 0 0 0 7.756 217032 chr11 82560193 82560193 T C rs148080484 PRCP Synonymous SNV Q168Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.665 217033 chr16 29913093 29913093 G A rs201711586 ASPHD1 Synonymous SNV R267R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.93 217034 chr16 30975502 30975502 T C rs888252055 SETD1A Nonsynonymous SNV C243R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 217035 chr16 31073037 31073037 C A rs201025557 ZNF668 Synonymous SNV S404S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.121 217036 chr17 56657050 56657050 C T rs756856156 TEX14 Nonsynonymous SNV A1072T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.2 217037 chr11 89182650 89182650 T A NOX4 Nonsynonymous SNV T78S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 217038 chr17 60060446 60060446 C T MED13 Nonsynonymous SNV G973D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 217039 chrX 44023252 44023252 T C rs371757751 EFHC2 Synonymous SNV Q688Q 0 0 0 3 0 0 0.008 0 0 0 0 0 0.003 217040 chrX 47836691 47836691 G A rs146302543 ZNF182 Synonymous SNV T246T 0 0 0 2 0 0 0.005 0 0 0 0 0 9.729 217041 chr3 121295746 121295746 A G ARGFX Synonymous SNV T73T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.748 217042 chr17 62141416 62141416 G A rs56201815 ERN1 Synonymous SNV D339D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.117 217043 chr5 156934113 156934113 G T rs759999401 ADAM19 Nonsynonymous SNV A314D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 217044 chr11 93454980 93454980 T C SCARNA9 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 217045 chrX 49126921 49126921 C T PPP1R3F Nonsynonymous SNV R197C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 31 217046 chr2 231934758 231934758 T C PSMD1 Nonsynonymous SNV L177S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 217047 chrX 55033559 55033559 A C APEX2 Synonymous SNV P245P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 217048 chr17 6547871 6547871 A G MED31 Synonymous SNV H104H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.951 217049 chr12 100042119 100042121 GAG - rs771542531 FAM71C G57del 0.001 0 0 0 1 0 0 0 0 0 0 0 217050 chr17 1680732 1680732 G A SERPINF1 Nonsynonymous SNV G230S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 217051 chr2 234591386 234591386 A G rs369092989 UGT1A7 Nonsynonymous SNV N268S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 217052 chr17 17119716 17119716 G A rs41459448 FLCN Synonymous SNV I426I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.82 217053 chrX 71426905 71426905 T C ERCC6L Nonsynonymous SNV Y571C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 217054 chr17 67257812 67257812 T C rs75944132 ABCA5 Synonymous SNV L1131L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.456 217055 chrX 7870084 7870084 C T rs143864337 PNPLA4 Synonymous SNV P105P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 217056 chr16 54145783 54145783 A G rs373102373 FTO Nonsynonymous SNV I466V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.084 217057 chr16 55883585 55883585 G A rs751110837 CES5A Synonymous SNV V458V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 217058 chr3 127325043 127325043 G A rs146895950 MCM2 Synonymous SNV P252P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.498 217059 chr3 128344415 128344415 C T rs1126829 RPN1 Nonsynonymous SNV V453I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 217060 chr7 5781418 5781418 T C rs761147492 RNF216 Nonsynonymous SNV N77S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.823 217061 chr12 108603944 108603944 G A rs950568945 WSCD2 Nonsynonymous SNV G182S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 217062 chr7 6628329 6628329 T G rs772451838 ZDHHC4 Nonsynonymous SNV L275V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.89 217063 chr17 73235051 73235051 G A rs938705056 GGA3 Synonymous SNV L510L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 217064 chr3 132036310 132036310 G A rs141502063 ACPP Nonsynonymous SNV A4T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.211 217065 chr16 66976085 66976085 G A rs146221109 CES2 Synonymous SNV A405A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 217066 chr3 133486988 133486988 C T rs7845 TF Synonymous SNV Y407Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 13.99 217067 chr16 67942682 67942682 C G rs753559003 PSKH1 Synonymous SNV P10P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.784 217068 chr2 242075362 242075362 G A rs2066958 PASK Synonymous SNV D410D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.267 217069 chr17 73895744 73895744 G A rs1128878 MRPL38 Nonsynonymous SNV P241L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 217070 chr2 242157228 242157228 G C rs78605785 ANO7 Synonymous SNV P700P 0.003 0.003 0 0 3 1 0 0 1 0 0 0 15.06 217071 chr10 85992195 85992195 T C rs150714287 LRIT1 Nonsynonymous SNV K454E 0 0 0 2 0 0 0.005 0 0 0 0 0 9.349 217072 chr3 138403483 138403483 T A rs767134885 PIK3CB Nonsynonymous SNV I279F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.05 217073 chr17 76424744 76424744 G A rs763217730 DNAH17 Synonymous SNV P4150P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.497 217074 chr6 10796426 10796426 - A rs777909571 MAK Frameshift insertion L316Ffs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 217075 chr12 116429001 116429001 G A rs148416895 MED13L Nonsynonymous SNV T1253I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 17.51 217076 chr17 7657787 7657787 G T rs192810162 RPL29P2 0 0 0.007 0 0 0 0 2 0 0 0 0 2.216 217077 chr17 7721108 7721108 G A DNAH2 Synonymous SNV R3390R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.267 217078 chr3 154147140 154147140 T C rs758606538 GPR149 Nonsynonymous SNV M89V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.88 217079 chr17 78063937 78063937 G T CCDC40 0 0 0.003 0 0 0 0 1 0 0 0 0 2.058 217080 chr10 123325169 123325169 C T rs1047102 FGFR2 Synonymous SNV A53A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign/Likely benign 16.1 217081 chr12 121746338 121746338 C T rs368930697 ANAPC5 Nonsynonymous SNV R626Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 217082 chr16 29848067 29848067 C T rs138398827 MVP Nonsynonymous SNV R233W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 217083 chr3 13667984 13667984 G A rs1057035894 FBLN2 Nonsynonymous SNV R732Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 217084 chr3 15778546 15778546 A C rs1056074109 ANKRD28 Nonsynonymous SNV H96Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 217085 chr12 125434732 125434732 C T rs370842676 DHX37 Nonsynonymous SNV R1060H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 217086 chr3 183955056 183955056 G A rs375332654 VWA5B2 Nonsynonymous SNV D307N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 217087 chr10 102744519 102744519 G A SEMA4G Nonsynonymous SNV D660N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.13 217088 chr10 104140908 104140908 G T rs140691714 GBF1 Nonsynonymous SNV G1729V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.857 217089 chr10 104140909 104140909 C T rs145844595 GBF1 Synonymous SNV G1729G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.474 217090 chr17 8046768 8046768 G A rs143964144 PER1 Nonsynonymous SNV P963L 0.004 0 0.003 0 5 0 0 1 0 0 0 0 10.74 217091 chr3 37365148 37365148 G A GOLGA4 Nonsynonymous SNV A591T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.357 217092 chr16 48119582 48119582 G A rs749068471 ABCC12 Synonymous SNV V1250V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.758 217093 chr18 13681759 13681759 C T rs147538636 FAM210A Synonymous SNV P106P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.559 217094 chr18 21483051 21483051 A G rs201661804 LAMA3 Nonsynonymous SNV T429A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 217095 chr3 195594250 195594250 T C rs373134167 TNK2 Synonymous SNV P990P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 217096 chr18 2890995 2890995 C T rs751358725 EMILIN2 Synonymous SNV Y290Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.641 217097 chr16 56509455 56509455 T C OGFOD1 Nonsynonymous SNV I444T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 217098 chr10 27059187 27059187 G A rs375127467 ABI1 Nonsynonymous SNV R125W 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 217099 chr12 2797868 2797868 G A rs199473660 CACNA1C Nonsynonymous SNV V2022I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.72 217100 chr6 43139541 43139541 G T rs568709023 SRF Synonymous SNV A49A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Likely benign 10.63 217101 chr18 34298359 34298359 C T rs537641087 FHOD3 Nonsynonymous SNV P841L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 217102 chr4 2252280 2252280 G A MXD4 Synonymous SNV A207A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.761 217103 chr4 2306357 2306357 G A rs138678197 ZFYVE28 Synonymous SNV C540C 0.002 0 0 0 2 0 0 0 0 0 0 0 7.478 217104 chr4 2307087 2307087 G A rs141682211 ZFYVE28 Nonsynonymous SNV P297L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.71 217105 chr12 32480499 32480499 G C rs79125534 BICD1 Synonymous SNV R370R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.871 217106 chr3 47894286 47894286 T C rs111679040 MAP4 Nonsynonymous SNV H1135R 0.005 0.005 0 0 6 2 0 0 0 0 0 0 13.77 217107 chr3 49137863 49137863 C A rs779575422 QARS1 Synonymous SNV A324A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.3 217108 chr3 49158677 49158677 G C rs11550620 LAMB2 Nonsynonymous SNV I1793M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25 217109 chr12 46320453 46320453 T C rs150900606 SCAF11 Nonsynonymous SNV N1011D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.212 217110 chr3 49395038 49395038 G A rs201091540 GPX1 Nonsynonymous SNV A86V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 217111 chr3 49698525 49698525 T A BSN Nonsynonymous SNV Y3083N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.8 217112 chr18 61006051 61006051 T C KDSR Synonymous SNV Q253Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.309 217113 chr3 52384032 52384032 C T rs546135785 DNAH1 Nonsynonymous SNV R852C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 217114 chr18 67721409 67721409 T C rs35374168 RTTN Nonsynonymous SNV N803D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.44 217115 chr17 48457722 48457722 G C rs77309724 EME1 Nonsynonymous SNV A479P 0.003 0 0 0 4 0 0 0 0 0 0 0 31 217116 chr10 60546781 60546781 C T rs766952797 BICC1 Synonymous SNV T162T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.08 217117 chr6 88125473 88125473 A G rs35978098 CFAP206 Nonsynonymous SNV D118G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.9 217118 chr3 58080615 58080615 C T FLNB Synonymous SNV D280D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 217119 chr18 74980553 74980553 G A rs142216832 GALR1 Nonsynonymous SNV V249I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.305 217120 chr18 77211722 77211722 G A rs143702653 NFATC1 Synonymous SNV T131T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.312 217121 chr16 84089631 84089631 C T rs139554174 MBTPS1 Nonsynonymous SNV G981S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 21.7 217122 chr16 84230332 84230332 A G rs151109382 ADAD2 Nonsynonymous SNV K536E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.6 217123 chr17 59560322 59560322 G C rs61739274 TBX4 Synonymous SNV V361V 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 3.6 217124 chr19 1054255 1054255 G A rs201060968 ABCA7 Stop gain W1214X 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 37 217125 chr17 33875686 33875686 C T SLFN14 Nonsynonymous SNV E771K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 217126 chr19 12126355 12126355 T C ZNF433 Nonsynonymous SNV T443A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 217127 chr19 1401397 1401397 A G rs200833152 GAMT Nonsynonymous SNV Y27H 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 217128 chr17 65688775 65688775 C A PITPNC1 Nonsynonymous SNV S257Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 217129 chr17 37881331 37881331 C T rs373165016 ERBB2 Synonymous SNV L841L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.72 217130 chr4 74363413 74363415 ACA - rs750830834 AFM Q414del 0.001 0 0 0 1 0 0 0 0 0 0 0 217131 chr4 75040279 75040279 T G rs760128533 MTHFD2L Nonsynonymous SNV I67R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 217132 chr4 76836108 76836108 G A rs180875861 NAAA Synonymous SNV A343A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 217133 chr4 76956256 76956256 T G rs776483654 CXCL11 Nonsynonymous SNV N69H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.155 217134 chr8 37691271 37691271 C T rs774600544 ADGRA2 Synonymous SNV A454A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.28 217135 chr10 91479233 91479233 T C KIF20B Nonsynonymous SNV S498P 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 22.1 217136 chr3 121345722 121345722 T C FBXO40 Nonsynonymous SNV F699L 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 217137 chr8 38849065 38849065 C T TM2D2 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.6 217138 chr17 71384009 71384009 C T rs369928391 SDK2 Nonsynonymous SNV V1454M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 217139 chr4 89653242 89653242 G A rs79098511 FAM13A Synonymous SNV D564D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.196 217140 chr12 69967896 69967896 G A rs759430968 FRS2 Nonsynonymous SNV E230K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 217141 chr4 95539281 95539281 C G rs775759006 PDLIM5 Nonsynonymous SNV F24L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.33 217142 chr19 1775333 1775333 C T ONECUT3 Synonymous SNV V458V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 217143 chr3 126224648 126224648 C G rs150437149 UROC1 Nonsynonymous SNV E237Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.59 217144 chr6 152454522 152454522 T C rs764889457 SYNE1 Synonymous SNV E808E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.966 217145 chr12 7354405 7354405 A G rs149289353 PEX5 Nonsynonymous SNV K204E 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Uncertain significance 12.71 217146 chr17 40475328 40475328 G A STAT3 Synonymous SNV D566D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 217147 chr12 75601144 75601144 C T rs760456909 KCNC2 Nonsynonymous SNV R207H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 217148 chr4 105412898 105412898 T C CXXC4 Nonsynonymous SNV E21G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 217149 chr17 7357645 7357645 C T rs989527059 CHRNB1 Synonymous SNV L284L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.54 217150 chr17 41132107 41132107 G A PTGES3L, PTGES3L-AARSD1 Synonymous SNV A31A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.977 217151 chr6 155154040 155154040 C G rs146655506 SCAF8 Synonymous SNV V1109V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.911 217152 chr8 77617933 77617933 A C ZFHX4 Nonsynonymous SNV K537T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.748 217153 chr6 158517270 158517270 C T rs752770656 SYNJ2 Synonymous SNV G1218G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.47 217154 chr19 19822451 19822451 G A rs150668126 ZNF14 Stop gain R547X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 217155 chr19 2130533 2130533 A T rs769359073 AP3D1 Nonsynonymous SNV S156T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.72 217156 chr17 76117136 76117136 G A rs772074105 TMC6 Nonsynonymous SNV P498L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 19.35 217157 chr17 1961437 1961437 C T rs768103838 HIC1 Synonymous SNV L504L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.81 217158 chr19 2790618 2790618 G A rs11557135 THOP1 Synonymous SNV E72E 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 7.134 217159 chr6 161653237 161653237 G A rs760894826 AGPAT4 Synonymous SNV L3L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.754 217160 chr12 93246761 93246761 T C EEA1 Synonymous SNV T149T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.742 217161 chr17 78024046 78024046 A C rs61734951 CCDC40 Nonsynonymous SNV K375Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.186 217162 chr4 139093135 139093135 A T SLC7A11 Nonsynonymous SNV V494D 0.002 0 0 0 2 0 0 0 0 0 0 0 25 217163 chr17 78169109 78169109 C T rs144710573 CARD14 Synonymous SNV F255F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 15.66 217164 chr4 146697006 146697006 G A rs142722064 ZNF827 Synonymous SNV T876T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.59 217165 chr17 78195447 78195447 C G rs76464091 SLC26A11 Nonsynonymous SNV L30V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 217166 chr17 78196579 78196579 C T rs77853404 SLC26A11 Synonymous SNV P120P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.58 217167 chr17 78215587 78215587 C T rs61732344 SLC26A11 Nonsynonymous SNV R335C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 217168 chr19 3595767 3595767 C T rs201199706 TBXA2R Synonymous SNV R317R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 217169 chr9 111853356 111853356 T C TMEM245 Synonymous SNV S332S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 10.28 217170 chr19 3613243 3613243 - CCCTCA rs776008405 CACTIN E538_A539insGE 0 0 0.003 0 0 0 0 1 0 0 0 0 217171 chr17 80040802 80040802 C T rs748930040 FASN Nonsynonymous SNV G1919R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 217172 chr13 111077312 111077312 G A rs537746077 COL4A2 Nonsynonymous SNV V110I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 217173 chr17 5403935 5403935 G A rs574037188 LOC728392 Synonymous SNV I114I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 217174 chr9 116045748 116045748 C T rs200218087 PRPF4 Nonsynonymous SNV H214Y 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 17.16 217175 chr13 113864294 113864294 T C rs76913021 CUL4A Synonymous SNV P52P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 217176 chr19 38798290 38798290 G T rs377205248 YIF1B Nonsynonymous SNV N199K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 217177 chr17 56281781 56281781 A C rs149503005 EPX Synonymous SNV T715T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 217178 chr4 177632785 177632785 G C VEGFC Nonsynonymous SNV P191R 0.001 0 0 0 1 0 0 0 0 0 0 0 28 217179 chr9 118949976 118949976 C T rs758068595 PAPPA Nonsynonymous SNV T320M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.1 217180 chr4 185012498 185012498 C G ENPP6 Synonymous SNV S385S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 217181 chr3 194080153 194080153 G T rs752548534 LRRC15 Synonymous SNV A540A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.028 217182 chr13 25458477 25458477 A T rs750428180 CENPJ Nonsynonymous SNV M1201K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 217183 chr17 60742130 60742130 C T rs201959743 MRC2 Nonsynonymous SNV R114W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 217184 chr19 41019180 41019180 C G rs753868706 SPTBN4 Synonymous SNV P828P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 217185 chr4 187476365 187476365 A G rs144178215 MTNR1A Nonsynonymous SNV V52A 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 217186 chr17 63533068 63533068 G A rs370618491 AXIN2 Nonsynonymous SNV P609L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 217187 chr18 29118843 29118843 T C rs199681901 DSG2 Nonsynonymous SNV L594P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 217188 chr13 37446978 37446978 C T rs61753157 SMAD9 Nonsynonymous SNV A163T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.8 217189 chr5 1036439 1036439 C T rs748515088 NKD2 Nonsynonymous SNV R243C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 217190 chr13 46054313 46054313 A G rs775527182 COG3 Nonsynonymous SNV N146S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.264 217191 chr18 39637974 39637974 G A rs761910592 PIK3C3 Synonymous SNV E734E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 217192 chr17 7139425 7139425 A G PHF23 Nonsynonymous SNV V207A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 217193 chr5 16683989 16683989 C T rs745623134 MYO10 Nonsynonymous SNV R1349K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 217194 chr13 76381617 76381617 C A rs368045003 LMO7 Nonsynonymous SNV Q73K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 217195 chr17 72667780 72667780 G A RAB37 Nonsynonymous SNV D19N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 217196 chr11 17522601 17522601 G A rs372227474 USH1C Nonsynonymous SNV H474Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 25.9 217197 chr5 35039506 35039506 C A rs758171976 AGXT2 Nonsynonymous SNV W95C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 217198 chr17 7319109 7319109 C T rs968765404 NLGN2 Synonymous SNV A439A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 217199 chr19 46281433 46281433 G T rs1009923145 DMPK Synonymous SNV I120I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 217200 chr5 37605199 37605199 G A WDR70 Synonymous SNV K295K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 217201 chr19 47861365 47861365 C T rs750889483 DHX34 Synonymous SNV A420A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.74 217202 chr18 66541969 66541969 G T CCDC102B Stop gain E334X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 217203 chr19 49090599 49090599 G C rs201511288 SULT2B1 Nonsynonymous SNV A95P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 217204 chr17 76446851 76446851 C T rs748903580 DNAH17 Synonymous SNV S3604S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 217205 chr14 20482702 20482702 G A rs759439212 OR4K14 Synonymous SNV I217I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.166 217206 chr18 77477859 77477859 G A rs142285723 CTDP1 Nonsynonymous SNV A635T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.292 217207 chr14 20779835 20779835 T C rs138897093 CCNB1IP1 Synonymous SNV R236R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 3.869 217208 chr14 20854669 20854669 C T rs34179031 TEP1 Nonsynonymous SNV R825H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.2 217209 chr5 73190313 73190313 G A rs571682255 ARHGEF28 Nonsynonymous SNV V939I 0.002 0 0 0 2 0 0 0 0 0 0 0 23 217210 chr19 50979119 50979119 A G FAM71E1 Nonsynonymous SNV F111L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 217211 chr14 21052103 21052103 T C rs142227946 RNASE11 Synonymous SNV L177L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.892 217212 chr14 21215988 21215988 G C EDDM3A Nonsynonymous SNV E83D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.134 217213 chr11 45877620 45877620 C T rs767821278 CRY2 Synonymous SNV D40D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.87 217214 chr5 86703905 86703905 T C rs2266691 CCNH Nonsynonymous SNV K85R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.39 217215 chr17 80280102 80280102 A G rs147072509 SECTM1 Nonsynonymous SNV S228P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 217216 chr17 8108652 8108652 C T rs777705809 AURKB Nonsynonymous SNV R80H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 217217 chr19 53854889 53854889 C G rs779619732 ZNF845 Nonsynonymous SNV H321D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 217218 chr19 54244604 54244604 G A MIR517C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.307 217219 chr9 35100681 35100681 C T rs36064663 STOML2 Nonsynonymous SNV V238I 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 24.1 217220 chr5 98209322 98209322 A G CHD1 Synonymous SNV D1182D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.779 217221 chr19 54649444 54649444 C T rs144796513 CNOT3 Synonymous SNV D198D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.46 217222 chr9 36677247 36677247 G A rs759310261 MELK Synonymous SNV V492V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 5.536 217223 chr5 111540130 111540130 G A rs562929678 EPB41L4A Nonsynonymous SNV R440C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 217224 chr19 54968011 54968011 C T rs749206054 LENG8 Synonymous SNV L548L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 217225 chr5 114605464 114605464 T A rs755768818 CCDC112 Nonsynonymous SNV D455V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 217226 chr5 115320380 115320380 G A rs564955632 LVRN Nonsynonymous SNV V318I 0.002 0 0 0 2 0 0 0 0 0 0 0 5.602 217227 chr14 36158542 36158542 T C RALGAPA1 Synonymous SNV S978S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.14 217228 chr18 22008842 22008842 C T rs187130387 IMPACT Nonsynonymous SNV P59S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 217229 chr19 1621885 1621885 C T rs547275481 TCF3 Nonsynonymous SNV G303S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.725 217230 chr14 51225204 51225204 C T rs935451598 NIN Synonymous SNV Q848Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.498 217231 chr14 55169081 55169081 A C rs745770291 SAMD4A Synonymous SNV S166S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 217232 chr14 55227082 55227082 G A rs201156229 SAMD4A Synonymous SNV T51T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.917 217233 chr5 137803447 137803447 T C rs201394271 EGR1 Nonsynonymous SNV S437P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 217234 chr4 114294246 114294246 G A rs786205729 ANK2 Nonsynonymous SNV G962R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 34 217235 chr11 64329509 64329509 C T rs972933584 SLC22A11 Synonymous SNV C177C 0 0 0 2 0 0 0.005 0 0 0 0 0 7.327 217236 chr19 58153489 58153489 C T rs138875681 ZNF211 Synonymous SNV S484S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 217237 chr17 7400141 7400141 A T POLR2A Nonsynonymous SNV Y199F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.308 217238 chr19 59074247 59074247 G T rs370449872 MZF1 Nonsynonymous SNV P466Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 217239 chr5 141334565 141334565 T C rs780448801 PCDH12 Nonsynonymous SNV E951G 0.001 0 0 0 1 0 0 0 0 0 0 0 29 217240 chr14 66082714 66082714 T G rs368415291 FUT8 Nonsynonymous SNV I74M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.02 217241 chr5 141693978 141693978 G A rs375722281 SPRY4 Synonymous SNV C232C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.148 217242 chr14 69676293 69676293 A G EXD2 Nonsynonymous SNV T36A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 217243 chr14 69805412 69805412 G A rs75891218 GALNT16 Nonsynonymous SNV V338I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.34 217244 chr19 6833228 6833228 C A rs199798227 VAV1 Nonsynonymous SNV N482K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 217245 chr14 71444401 71444401 T C rs59575910 PCNX1 Synonymous SNV T449T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.021 217246 chr19 19741035 19741049 GCTGGTGGGTTACAG - rs376598348 GMIP P850_Q854del 0.003 0 0 0 4 0 0 0 0 0 0 0 217247 chr11 65811095 65811095 C A GAL3ST3 Nonsynonymous SNV R60L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 217248 chr11 66459054 66459054 C T rs755055995 SPTBN2 Nonsynonymous SNV A1756T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.704 217249 chrX 129041353 129041353 T G rs147807871 UTP14A Nonsynonymous SNV L13V 0.003 0.005 0 3 3 2 0.008 0 1 0 0 1 24.6 217250 chr4 154557616 154557616 C T rs34343821 TMEM131L Nonsynonymous SNV P1574L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.7 217251 chr11 67191590 67191590 G A rs371868488 CARNS1 Nonsynonymous SNV G668R 0 0 0 2 0 0 0.005 0 0 0 0 0 28.2 217252 chr11 67261451 67261451 G A PITPNM1 Nonsynonymous SNV P983S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.005 217253 chr19 8555603 8555605 ATC - PRAM1 M593del 0 0 0.003 0 0 0 0 1 0 0 0 0 217254 chr17 78064015 78064015 - GGACGCGCGCAGGCACGTGCACGAAC CCDC40 Frameshift insertion N971Gfs*80 0.001 0 0 0 1 0 0 0 0 0 0 0 217255 chr18 7007163 7007163 C T rs760299140 LAMA1 Nonsynonymous SNV C1412Y 0.002 0 0 0 2 0 0 0 0 0 0 0 31 217256 chr11 71819824 71819824 C G rs876657863 LRTOMT Nonsynonymous SNV D243E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 25.6 217257 chr11 72423352 72423352 G A rs564508135 ARAP1 Nonsynonymous SNV S59F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.1 217258 chr4 170322949 170322949 C T rs751475605 NEK1 Nonsynonymous SNV R1049K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 217259 chr5 159399037 159399037 C T rs201375864 ADRA1B Synonymous SNV C367C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.55 217260 chr19 9525105 9525105 T C rs201375825 ZNF266 Nonsynonymous SNV I166V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 217261 chrX 24757534 24757534 A G rs766562139 POLA1 Nonsynonymous SNV M695V 0 0.003 0 2 0 1 0.005 0 0 0 0 1 16.22 217262 chr17 80615865 80615865 G A rs150608118 RAB40B Synonymous SNV H237H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.814 217263 chr11 57076423 57076423 G A rs374665676 TNKS1BP1 Synonymous SNV G1254G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.06 217264 chr1 1078374 1078374 G A rs144252116 LINC01342 0 0 0.01 0 0 0 0 3 0 0 0 0 0.476 217265 chr5 174869327 174869327 G T rs74414188 DRD1 Nonsynonymous SNV S259Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 217266 chrX 35938038 35938038 G A rs138479255 CFAP47 Nonsynonymous SNV R41Q 0.001 0.003 0.014 2 1 1 0.005 4 0 0 2 1 23 217267 chr19 36577642 36577642 G A rs145392484 WDR62 Nonsynonymous SNV V566M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 217268 chr14 95910923 95910923 G T rs150245374 SYNE3 Nonsynonymous SNV P559T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.04 217269 chr1 109811869 109811869 G A rs143064921 CELSR2 Nonsynonymous SNV G2257R 0 0 0.007 0 0 0 0 2 0 0 0 0 17.64 217270 chr14 96944872 96944872 C T rs201989624 AK7 Synonymous SNV I476I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 217271 chr5 1409897 1409897 T C SLC6A3 Nonsynonymous SNV E446G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 217272 chr19 12574827 12574827 C T rs148951852 ZNF709 Nonsynonymous SNV V637I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 217273 chr5 7875480 7875480 C T rs773670871 MTRR Synonymous SNV D131D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.66 217274 chr15 30112768 30112768 T C rs143873965 TJP1 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 6.706 217275 chr1 114968115 114968115 - TGT rs781563891 TRIM33 T550_Q551insT 0 0 0.003 0 0 0 0 1 0 0 0 0 217276 chr1 115141973 115141973 G A rs762792966 DENND2C Synonymous SNV I678I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 217277 chr1 116243913 116243915 ATC - rs72554069 CASQ2 D383del 0 0 0.003 0 0 0 0 1 0 0 0 0 217278 chr1 116247828 116247828 C T rs761798969 CASQ2 Synonymous SNV P308P 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 16.48 217279 chr15 33358717 33358717 T G rs190770401 FMN1 Nonsynonymous SNV K457Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 14.71 217280 chrX 99890207 99890207 C T rs200238785 TSPAN6 Nonsynonymous SNV A19T 0 0.003 0 2 0 1 0.005 0 0 0 0 1 31 217281 chr1 118429244 118429244 C G rs754437292 GDAP2 Synonymous SNV V354V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 217282 chr5 32098550 32098550 C T PDZD2 Synonymous SNV G2676G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.64 217283 chr1 118441753 118441753 A G rs751709323 GDAP2 Nonsynonymous SNV I241T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 217284 chr10 101557049 101557049 G C ABCC2 Nonsynonymous SNV L276F 0 0 0 2 0 0 0.005 0 0 0 0 0 10.62 217285 chr10 102242169 102242169 G A WNT8B Nonsynonymous SNV V218M 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 217286 chr1 12475185 12475185 G A rs774703534 VPS13D Nonsynonymous SNV A4001T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 217287 chr19 4283231 4283231 C T rs949246812 SHD Nonsynonymous SNV A195V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 217288 chr1 146747036 146747038 AAC - rs781983037 CHD1L T227del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 217289 chr1 149916280 149916280 C T OTUD7B Nonsynonymous SNV D670N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 217290 chr19 1615393 1615393 C T rs143212973 TCF3 Synonymous SNV E570E 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 13.75 217291 chr15 42159250 42159250 C T rs61739719 SPTBN5 Synonymous SNV Q2129Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.909 217292 chr19 16973733 16973733 C T rs771385129 SIN3B Synonymous SNV D435D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 217293 chr5 60834666 60834666 C G ZSWIM6 Nonsynonymous SNV P803A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 217294 chr1 153536320 153536320 C T S100A2 Nonsynonymous SNV V12M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 217295 chr6 35393705 35393705 C A rs147759211 PPARD Nonsynonymous SNV A294D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.79 217296 chr6 36106691 36106691 G A rs767109473 MAPK13 Nonsynonymous SNV V293M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 217297 chr15 49127032 49127032 T G SHC4 Nonsynonymous SNV Q557H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 217298 chr1 1559209 1559209 G T rs28681667 MIB2 Synonymous SNV G159G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.121 217299 chr1 1559227 1559227 T C rs28414017 MIB2 Synonymous SNV R165R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 217300 chr5 73072486 73072486 C T rs763389651 ARHGEF28 Nonsynonymous SNV R269W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 217301 chr1 156347848 156347848 G T rs575652633 RHBG Nonsynonymous SNV G148W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 217302 chr8 41832242 41832242 T C rs201429328 KAT6A Nonsynonymous SNV I488V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.898 217303 chr19 45867785 45867785 C G rs368913401 ERCC2 Synonymous SNV V181V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.1 217304 chr19 46027859 46027859 G A rs374049612 VASP Nonsynonymous SNV E330K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 217305 chr6 41129133 41129133 C T rs142232675 TREM2 Nonsynonymous SNV D87N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 217306 chr15 55710697 55710697 A G rs200637258 C15orf65 Nonsynonymous SNV N99D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.79 217307 chr10 124753828 124753828 G A rs759193688 IKZF5 Nonsynonymous SNV P243L 0 0 0 1 0 0 0.003 0 0 0 0 0 21 217308 chr15 56390341 56390341 G A rs749266188 RFX7 Nonsynonymous SNV P252S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 217309 chr15 58001325 58001325 G A rs147063275 GCOM1, POLR2M Nonsynonymous SNV R176H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.749 217310 chr1 158532607 158532607 C T rs41273497 OR6P1 Nonsynonymous SNV R263Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.763 217311 chr19 47548732 47548732 G T rs758508595 NPAS1 Synonymous SNV V532V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.07 217312 chr15 59813520 59813520 C T rs192486945 FAM81A Synonymous SNV D350D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.47 217313 chr19 47865756 47865756 G T rs145555932 DHX34 Nonsynonymous SNV D467Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 217314 chr15 62320579 62320579 A G rs144525924 VPS13C Synonymous SNV F142F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 0.477 217315 chr19 48034971 48034971 G A rs370473640 ZNF541 Synonymous SNV S1111S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 17.26 217316 chr1 158817523 158817523 C T rs993369232 MNDA Synonymous SNV S331S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 217317 chr1 15905471 15905471 G T rs116813534 AGMAT Nonsynonymous SNV H201Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 217318 chr15 65703688 65703688 C T IGDCC4 Nonsynonymous SNV E31K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 217319 chr8 100403925 100403925 G A rs141637316 VPS13B Synonymous SNV T1025T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.32 217320 chr8 101299869 101299869 T C RNF19A Synonymous SNV E178E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.61 217321 chr15 66853414 66853414 G A rs7179073 LCTL Nonsynonymous SNV T39M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 217322 chr15 74490132 74490132 T C rs200937669 STRA6 Nonsynonymous SNV I47M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.12 217323 chr6 56376099 56376099 T G rs201848228 DST Nonsynonymous SNV I3603L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 217324 chr1 1693444 1693444 C T rs61742746 NADK Synonymous SNV P70P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.95 217325 chr15 74948202 74948202 G A rs920437460 EDC3 Nonsynonymous SNV T86I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 217326 chr15 75129584 75129584 A C rs55973697 ULK3 Synonymous SNV S468S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.271 217327 chr6 56458778 56458778 C T DST Nonsynonymous SNV E1514K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 217328 chr15 75197506 75197506 G A rs750956601 FAM219B Synonymous SNV L123L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 217329 chr1 169528394 169528394 G T rs368524944 F5 Nonsynonymous SNV P243T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.6 217330 chr6 56484946 56484946 T C rs771246306 DST Nonsynonymous SNV K1296E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.89 217331 chr1 170521255 170521255 G A rs528962189 GORAB Synonymous SNV T279T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 217332 chr1 1720523 1720523 G A rs148709494 GNB1 Synonymous SNV N195N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 217333 chr1 172502390 172502390 C T SUCO Synonymous SNV L134L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 6.944 217334 chr6 74155297 74155297 C T rs369905079 CGAS Synonymous SNV L277L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 217335 chr15 79320156 79320156 G A rs201493081 RASGRF1 Synonymous SNV N436N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 217336 chr6 76369110 76369110 T C SENP6 Nonsynonymous SNV L221S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 217337 chr15 81591737 81591737 G A rs775632260 IL16 Synonymous SNV P690P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.551 217338 chr15 82444527 82444527 C A rs115974511 EFL1 Nonsynonymous SNV M705I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.83 217339 chr15 83357205 83357205 G - rs58262206 AP3B2 R136Gfs*38 0.001 0 0.003 0 1 0 0 1 0 0 0 0 217340 chr1 176564034 176564034 G A rs375269696 PAPPA2 Nonsynonymous SNV A432T 0 0 0.007 0 0 0 0 2 0 0 0 0 24 217341 chr6 83848328 83848328 A G rs199643825 DOP1A Nonsynonymous SNV K1514E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 217342 chr15 85406846 85406846 G A rs114449938 ALPK3 Nonsynonymous SNV A1492T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.8 217343 chr10 32580144 32580144 T C EPC1 Nonsynonymous SNV S308G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 217344 chr10 45799625 45799625 G T rs183865209 OR13A1 Synonymous SNV L82L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.711 217345 chr15 86940702 86940702 T A AGBL1 Nonsynonymous SNV V827E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 217346 chr6 90605494 90605494 T G rs200354512 GJA10 Nonsynonymous SNV L436W 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 217347 chr1 1858196 1858196 G C rs113634649 CFAP74 Nonsynonymous SNV H1223D 0 0 0.003 0 0 0 0 1 0 0 0 0 16 217348 chr15 89442749 89442749 G A rs778885417 MFGE8 Synonymous SNV N295N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 217349 chr1 1861763 1861763 C G rs112565031 CFAP74 Synonymous SNV L1008L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.884 217350 chr1 1870413 1870413 T C rs112996194 CFAP74 Synonymous SNV Q964Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 217351 chr1 1871054 1871054 G A rs112884195 CFAP74 Synonymous SNV F952F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.788 217352 chr1 19431567 19431567 G A rs148444542 UBR4 Nonsynonymous SNV P4207L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.2 217353 chr6 110679419 110679419 G T METTL24 Synonymous SNV L19L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.297 217354 chr6 111695753 111695753 G C rs753216430 REV3L Nonsynonymous SNV L1269V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 217355 chr5 140812216 140812216 A C rs769351399 PCDHGA12 Synonymous SNV R630R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.042 217356 chr1 197480884 197480884 T C rs78578977 DENND1B Nonsynonymous SNV M597V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.785 217357 chr10 5691059 5691059 C T ASB13 Nonsynonymous SNV E131K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 217358 chr6 117674163 117674163 C T ROS1 Synonymous SNV Q1437Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 217359 chr6 117704565 117704565 G T rs200615700 ROS1 Nonsynonymous SNV T804N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.9 217360 chr16 11272413 11272413 G C CLEC16A Nonsynonymous SNV V1010L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.805 217361 chr1 201965329 201965329 C T rs538754649 RNPEP Synonymous SNV N133N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 217362 chr10 69407239 69407239 G A rs61735044 CTNNA3 Synonymous SNV I11I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.09 217363 chr12 49445184 49445210 AGGTGTGGCTCCTCAGGCCGGGGGGAC - rs587783707 KMT2D R755_P763del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 217364 chr12 49445234 49445234 T G rs200155807 KMT2D Synonymous SNV S744S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.238 217365 chr10 70532775 70532775 G A rs777454414 CCAR1 Nonsynonymous SNV D842N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 217366 chr6 131490325 131490325 C A rs373866206 AKAP7 Synonymous SNV P167P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.57 217367 chr16 12996179 12996179 G A rs115472472 SHISA9 Synonymous SNV P86P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 5.618 217368 chr16 14014101 14014101 C T rs587778282 ERCC4 Nonsynonymous SNV L27F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 16.28 217369 chr16 14029006 14029006 A G rs762147159 ERCC4 Nonsynonymous SNV Q406R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 14.19 217370 chr1 205435909 205435909 C T rs189678430 LEMD1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 6.823 217371 chr5 150907593 150907593 C G FAT2 Synonymous SNV G3376G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.83 217372 chr1 207105893 207105893 G A rs778278414 PIGR Nonsynonymous SNV A639V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 217373 chr19 31769082 31769082 G A rs144514621 TSHZ3 Synonymous SNV N539N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.452 217374 chr12 120158385 120158385 G C rs371875217 CIT Synonymous SNV L1204L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.808 217375 chr5 162911140 162911140 A T rs142842674 HMMR Nonsynonymous SNV E530D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 217376 chr1 213031906 213031906 C T FLVCR1 Synonymous SNV L38L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.872 217377 chr1 213303075 213303075 T C rs763091911 RPS6KC1 Synonymous SNV F214F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.919 217378 chr12 122613740 122613740 G A rs778878406 MLXIP Synonymous SNV E221E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.54 217379 chr12 123346037 123346037 C T rs368029781 HIP1R Synonymous SNV S1045S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.87 217380 chr6 155750040 155750040 G T rs79326507 NOX3 Nonsynonymous SNV Q345K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 217381 chr16 2512465 2512465 C T rs377207826 TEDC2 Nonsynonymous SNV A267V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.113 217382 chr5 178418549 178418549 T C rs62638207 GRM6 Nonsynonymous SNV I245V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 19.66 217383 chr16 27517231 27517231 C T rs775678544 GTF3C1 Nonsynonymous SNV E587K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 217384 chr1 228412415 228412415 C T rs200058427 OBSCN Nonsynonymous SNV S970F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 217385 chr16 31095453 31095453 G T rs748300074 PRSS53 Stop gain C543X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 217386 chr11 100064305 100064305 T C rs201747412 CNTN5 Synonymous SNV D524D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.034 217387 chr1 229577702 229577702 G A rs774469204 NUP133 Synonymous SNV F1140F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 217388 chr1 229772141 229772141 A T rs141203811 URB2 Nonsynonymous SNV E594V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 217389 chr7 1097313 1097313 C G GPR146 Nonsynonymous SNV H54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.118 217390 chr7 1997330 1997330 G A rs940938054 MAD1L1 Synonymous SNV G418G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.541 217391 chr12 72036317 72036317 C T rs201623937 ZFC3H1 Nonsynonymous SNV R509Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 217392 chr1 23415532 23415532 T C rs768031428 LUZP1 Synonymous SNV E1029E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.479 217393 chr19 51582937 51582937 T C rs112710289 KLK14 Nonsynonymous SNV K79E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 217394 chr16 46741627 46741627 T C MYLK3 Nonsynonymous SNV T476A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.492 217395 chr12 95044169 95044169 G C rs549249535 TMCC3 Nonsynonymous SNV T13S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.31 217396 chr1 24077505 24077505 C T rs572158292 ELOA Nonsynonymous SNV S163L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.26 217397 chr7 11452401 11452401 T G THSD7A Nonsynonymous SNV Q1188H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 217398 chr19 53116388 53116388 G A rs149457093 ZNF83 Nonsynonymous SNV A477V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.44 217399 chr7 19765308 19765308 T A rs778751537 TMEM196 Nonsynonymous SNV K96N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 217400 chr12 43886974 43886974 T G rs147194751 ADAMTS20 Nonsynonymous SNV E317A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.94 217401 chr1 24484340 24484340 G A rs749709626 IFNLR1 Stop gain Q238X 0 0 0.003 0 0 0 0 1 0 0 0 0 4.349 217402 chr16 57509485 57509485 C A rs76275521 DOK4 Nonsynonymous SNV E74D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 19.69 217403 chr16 57549315 57549315 C T rs61749595 CCDC102A Synonymous SNV S487S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.8 217404 chr16 57803565 57803565 C T rs782252277 KIFC3 Nonsynonymous SNV R285Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 217405 chr16 57983275 57983277 TCC - rs141566950 CNGB1 E365del 0.001 0 0 0 1 0 0 0 0 0 0 0 217406 chr6 38980382 38980382 G A rs201274048 DNAH8 Synonymous SNV V4344V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 8.861 217407 chr7 30793365 30793365 C T rs149212813 INMT Nonsynonymous SNV T57M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 217408 chr19 9090941 9090941 C T rs767503762 MUC16 Nonsynonymous SNV D292N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.091 217409 chr7 35288320 35288320 C A rs749195999 TBX20 Nonsynonymous SNV A172S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 217410 chr7 37947175 37947175 G T rs147145122 SFRP4 Nonsynonymous SNV P316Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 217411 chr1 26671666 26671666 T C rs763991307 CRYBG2 Nonsynonymous SNV K495E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.436 217412 chr19 45184565 45184565 G C rs148584889 CEACAM19 Nonsynonymous SNV R258T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.007 217413 chr1 28832555 28832555 C T rs41270833 SNHG3 0 0 0.003 0 0 0 0 1 0 0 0 0 8.299 217414 chr12 121593894 121593894 T C rs756785007 P2RX7 Nonsynonymous SNV F103L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 217415 chr6 46638932 46638932 A G rs780729460 SLC25A27 Synonymous SNV L289L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.062 217416 chr1 3102888 3102888 G T rs143467979 PRDM16 Synonymous SNV P79P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.815 217417 chr7 45104135 45104135 A G CCM2 Nonsynonymous SNV K63R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 217418 chr6 49754105 49754105 C T rs770639068 PGK2 Nonsynonymous SNV V266I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.29 217419 chr6 49754392 49754392 T A rs140642109 PGK2 Nonsynonymous SNV H170L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.4 217420 chr7 48318152 48318152 C T rs199809056 ABCA13 Nonsynonymous SNV T2454M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 217421 chr1 3646709 3646709 G A rs751239958 TP73 Nonsynonymous SNV V399M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 217422 chr1 111217038 111217038 C T KCNA3 Nonsynonymous SNV D132N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 217423 chr1 1115415 1115415 C T rs57556493 TTLL10 Synonymous SNV G67G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.21 217424 chr7 51097201 51097201 A G rs757057355 COBL Nonsynonymous SNV I531T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.264 217425 chr1 112308618 112308618 T C rs139837469 DDX20 Synonymous SNV C524C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.221 217426 chr1 39790382 39790382 T A MACF1 Nonsynonymous SNV I1490N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 217427 chr1 40775807 40775807 G A rs150444024 COL9A2 Synonymous SNV G256G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 217428 chr1 40776928 40776928 C T COL9A2 Nonsynonymous SNV G184S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 217429 chr1 40875482 40875482 G A rs150217633 SMAP2 Nonsynonymous SNV R96Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 217430 chr6 74191870 74191870 T C rs115654622 MTO1 Synonymous SNV T456T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 4.261 217431 chr6 75865450 75865450 G A rs367774920 COL12A1 Nonsynonymous SNV T1124M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.19 217432 chr1 43353189 43353189 G A rs868262410 LOC339539 0 0 0.003 0 0 0 0 1 0 0 0 0 1.265 217433 chr6 83850049 83850049 A T rs9444039 DOP1A Nonsynonymous SNV Q1772L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.13 217434 chr6 83900923 83900923 A T rs73749738 PGM3 Nonsynonymous SNV V22D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 9.445 217435 chr6 83937189 83937189 A C rs754222949 ME1 Synonymous SNV A380A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.537 217436 chr11 125514482 125514482 C T CHEK1 Synonymous SNV L409L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.93 217437 chr19 58862863 58862863 C T rs753884034 A1BG Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 217438 chr6 88853658 88853658 C A rs772492894 CNR1 Nonsynonymous SNV A446S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 217439 chr12 6167130 6167130 G A rs138268387 VWF Synonymous SNV P538P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 3.095 217440 chr1 1277091 1277091 C G rs199864327 DVL1 Nonsynonymous SNV E187D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 217441 chr16 88501143 88501143 C A rs201540905 ZNF469 Nonsynonymous SNV S2422Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.3 217442 chr7 97861205 97861205 C T rs920147732 TECPR1 Nonsynonymous SNV V629M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 217443 chr16 88781091 88781091 G C rs142662688 CTU2 Nonsynonymous SNV C346S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 2.873 217444 chr16 88782205 88782205 G C rs202127176 PIEZO1 Nonsynonymous SNV F2458L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 217445 chr13 37580087 37580087 C G rs749829526 EXOSC8 Stop gain S90X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 217446 chr11 128839938 128839938 G A rs202185475 ARHGAP32 Nonsynonymous SNV R1361C 0 0 0 2 0 0 0.005 0 0 0 0 0 26 217447 chr9 140063722 140063722 C G MIR3621, LRRC26 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 217448 chr7 99506213 99506213 G A TRIM4 Synonymous SNV L238L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.569 217449 chr12 66603265 66603265 T G rs142449223 IRAK3 Nonsynonymous SNV Y55D 0 0 0.003 2 0 0 0.005 1 0 0 0 0 6.734 217450 chr6 105526555 105526555 G A rs76912525 LIN28B Nonsynonymous SNV R217Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 217451 chr16 88798919 88798919 G T rs201226914 PIEZO1 Nonsynonymous SNV L939M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 217452 chr11 130750592 130750592 G A rs142783173 SNX19 Nonsynonymous SNV R235W 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 32 217453 chr1 150917623 150917623 - G rs587751384 SETDB1 Frameshift insertion T397Nfs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 217454 chr1 58999978 58999978 A G rs140683681 OMA1 Nonsynonymous SNV M252T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25 217455 chr1 59248156 59248156 G A rs755600531 JUN Nonsynonymous SNV A196V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 217456 chr10 3177947 3177947 T C rs774205643 PFKP Synonymous SNV D447D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 217457 chr16 89347783 89347783 T G rs200482809 ANKRD11 Synonymous SNV R1723R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.798 217458 chr11 17574692 17574692 G A rs553174068 OTOG Nonsynonymous SNV E119K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.5 217459 chr13 60545212 60545212 G A rs76366906 DIAPH3 Nonsynonymous SNV P315L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 20.2 217460 chr17 10263341 10263341 T C rs940194417 MYH13 Nonsynonymous SNV Q194R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 217461 chr6 129826488 129826488 A G rs2228599 LAMA2 Synonymous SNV R2893R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.464 217462 chr10 13522906 13522906 T C BEND7 Synonymous SNV A313A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.244 217463 chr1 155734742 155734742 A G rs41264975 GON4L Nonsynonymous SNV Y1508H 0.003 0 0 0 3 0 0 0 0 0 0 0 5.645 217464 chr17 17697094 17697102 CAGCAGCAG - rs749836416 RAI1 Q289_Q291del 0.003 0 0 0 3 0 0 0 0 0 0 0 217465 chr17 18065903 18065903 C T rs200416838 MYO15A Synonymous SNV I3174I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 18.69 217466 chr1 897401 897401 G A rs768401237 KLHL17 Nonsynonymous SNV E229K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 217467 chr7 105182998 105182998 A G rs764947463 RINT1 Synonymous SNV Q61Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.696 217468 chr17 2203527 2203527 G T rs151078665 SMG6 Nonsynonymous SNV Q174K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.991 217469 chr6 159086521 159086521 G A rs137907566 SYTL3 Nonsynonymous SNV V69M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.763 217470 chr17 26948133 26948133 C T rs150486078 KIAA0100 Synonymous SNV S1562S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.99 217471 chr7 131887528 131887528 G A rs769546204 PLXNA4 Synonymous SNV F821F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.55 217472 chr7 141478509 141478509 C T rs2234000 TAS2R4 Nonsynonymous SNV T74M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 217473 chr17 3788664 3788664 C T CAMKK1 Synonymous SNV R106R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.33 217474 chr7 142920041 142920041 C G rs747344312 TAS2R40 Synonymous SNV A290A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 217475 chr10 71905939 71905939 A T TYSND1 Nonsynonymous SNV L135Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 217476 chr7 6590801 6590801 G A rs577820451 GRID2IP Synonymous SNV P89P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.178 217477 chr1 12446364 12446364 A G VPS13D Nonsynonymous SNV M3844V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 217478 chr7 149490533 149490533 G A rs200841118 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 3.268 217479 chr20 36024599 36024599 C T rs140451827 SRC Synonymous SNV N196N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.55 217480 chr10 73768052 73768052 C T rs746386664 CHST3 Synonymous SNV S421S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 217481 chr10 75393696 75393696 C T MYOZ1 Synonymous SNV G210G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 217482 chr7 150035771 150035771 G A RARRES2 Synonymous SNV P145P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.035 217483 chr1 150445677 150445677 G A rs373510243 RPRD2 Nonsynonymous SNV R1392Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 217484 chr20 43926941 43926941 A C MATN4 Nonsynonymous SNV V350G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 217485 chr7 151879217 151879217 C G rs781189696 KMT2C Nonsynonymous SNV V1910L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.494 217486 chr7 154863070 154863070 G A rs371035945 HTR5A Nonsynonymous SNV R154H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 217487 chr7 29923965 29923965 T C rs751275611 WIPF3 Synonymous SNV D285D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 217488 chr20 47679859 47679859 A G CSE1L Nonsynonymous SNV Y69C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 217489 chr20 50071138 50071138 G A rs141528841 NFATC2 Nonsynonymous SNV T579M 0 0 0.007 0 0 0 0 2 0 0 0 0 28.9 217490 chr10 96162472 96162472 G A rs778535105 TBC1D12 Synonymous SNV R34R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.515 217491 chr1 154744600 154744600 C T rs2271117 KCNN3 Synonymous SNV S433S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 217492 chr1 197129131 197129131 G C ZBTB41 Stop gain Y696X 0.002 0 0 0 2 0 0 0 0 0 0 0 45 217493 chr1 200870129 200870129 G A rs753171021 INAVA Nonsynonymous SNV R121Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 217494 chr17 4443657 4443657 T C rs371196231 MYBBP1A Synonymous SNV K1140K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.337 217495 chr17 4575503 4575505 TCC - rs536642900 PELP1 E930del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 217496 chr1 201458071 201458071 T A rs3738283 CSRP1 Nonsynonymous SNV K108I 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.8 217497 chr10 104181180 104181180 G A rs372523811 FBXL15 Synonymous SNV L41L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 217498 chr1 202127295 202127295 G A rs149201621 PTPN7 Nonsynonymous SNV A86V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.54 217499 chr17 48452765 48452765 C G rs140517067 EME1 Nonsynonymous SNV P66A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 217500 chr8 18393283 18393283 T C rs748348614 PSD3 Synonymous SNV E504E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.065 217501 chr10 105891149 105891149 A G CFAP43 Nonsynonymous SNV C1591R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 217502 chr8 22418870 22418870 C T rs142015400 SORBS3 Synonymous SNV F167F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.59 217503 chr8 22862037 22862037 C A rs61759910 RHOBTB2 Synonymous SNV L37L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 16.67 217504 chr8 22864475 22864475 G A rs61759909 RHOBTB2 Synonymous SNV P246P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.569 217505 chr8 22886002 22886002 G A rs61756238 TNFRSF10B Nonsynonymous SNV T197M 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 217506 chr1 206784716 206784716 C T rs781806458 EIF2D Nonsynonymous SNV R23Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 217507 chr14 21623667 21623667 C T rs138056054 OR5AU1 Nonsynonymous SNV R122H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 217508 chr8 28608284 28608284 C T rs143878878 EXTL3 Synonymous SNV Y887Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 217509 chr17 61657283 61657283 G A rs35367480 DCAF7 Synonymous SNV Q169Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.32 217510 chr17 61683718 61683718 G A rs35252424 TACO1 Nonsynonymous SNV G145S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 32 217511 chr17 62018239 62018239 G A rs2227907 SCN4A Synonymous SNV A1801A 0.003 0.005 0.003 0 4 2 0 1 1 0 0 0 Benign 10.07 217512 chr21 38092172 38092172 C T rs16994404 SIM2 Synonymous SNV H133H 0.002 0 0.003 0 2 0 0 1 1 0 0 0 17.42 217513 chr8 37791834 37791834 T - rs764997574 GOT1L1 T415Hfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 217514 chr8 37822931 37822931 G C rs36031925 ADRB3 Nonsynonymous SNV R353G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 217515 chr8 41551606 41551606 C T rs374102892 ANK1 Synonymous SNV P1114P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.56 217516 chr7 99697247 99697247 C A MCM7 Nonsynonymous SNV V81L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 217517 chr14 24677230 24677230 A T rs200353859 TSSK4 Stop gain K299X 0 0 0 2 0 0 0.005 0 0 0 0 0 42 217518 chr1 216692611 216692611 A C ESRRG Nonsynonymous SNV L88V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 217519 chr21 43161283 43161283 G A rs149475741 RIPK4 Synonymous SNV V690V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.135 217520 chr8 56270322 56270322 T C rs749035731 XKR4 Synonymous SNV Y297Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 217521 chr17 66303763 66303763 C T rs782334096 ARSG Synonymous SNV A43A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 217522 chr8 56879281 56879281 T C rs780021990 LYN Synonymous SNV Y245Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.219 217523 chr8 59502625 59502625 C T rs187145398 NSMAF Synonymous SNV S707S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.4 217524 chr8 67726150 67726150 G C rs917196477 C8orf44-SGK3, SGK3 Nonsynonymous SNV E106Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.36 217525 chr21 45560137 45560137 C T rs761816702 GATD3A, GATD3B Nonsynonymous SNV T59M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 217526 chr10 135170740 135170740 G A FUOM Synonymous SNV F35F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.925 217527 chr21 45924683 45924683 C T rs112006551 TSPEAR Synonymous SNV S612S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 217528 chr17 7163734 7163734 G A rs200370674 CLDN7 Nonsynonymous SNV R199C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 217529 chr21 46900667 46900667 C T rs561350566 COL18A1 Synonymous SNV P682P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 217530 chr17 7320885 7320885 G A rs1015623591 NLGN2 Nonsynonymous SNV E759K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 217531 chr22 19044617 19044617 G A rs367824748 DGCR2 Synonymous SNV N187N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 217532 chr8 119945501 119945501 C T rs146450643 TNFRSF11B Synonymous SNV T23T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.015 217533 chr8 120629449 120629449 C T rs373651034 ENPP2 Synonymous SNV P204P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 217534 chr8 120886112 120886112 G A rs145341556 DEPTOR Nonsynonymous SNV S9N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 217535 chr1 1855870 1855870 C T rs373105882 CFAP74 Synonymous SNV P1398P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.04 217536 chr1 229478162 229478162 C T rs112195774 CCSAP Synonymous SNV E17E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 217537 chr1 230472968 230472968 G C rs557792044 PGBD5 Nonsynonymous SNV L321V 0.002 0 0 0 2 0 0 0 0 0 0 0 23 217538 chr17 74287188 74287188 T A rs770399177 QRICH2 Nonsynonymous SNV Y1041F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 217539 chr7 100682597 100682597 T C rs137868062 MUC17 Nonsynonymous SNV S2634P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.035 217540 chr1 231665031 231665031 A G rs1000997476 TSNAX Nonsynonymous SNV D16G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 217541 chr7 103155666 103155666 G A rs138241126 RELN Synonymous SNV I2695I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 6.529 217542 chr22 30766827 30766827 G A rs143878154 CCDC157 Synonymous SNV A311A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 217543 chr22 30767102 30767102 G A rs908664449 KIAA1656 0 0 0.007 0 0 0 0 2 0 0 1 0 4.49 217544 chr17 76171125 76171125 A T rs574992166 TK1 Synonymous SNV A173A 0.004 0 0 0 5 0 0 0 0 0 0 0 7.287 217545 chr17 76471408 76471408 G A rs200383975 DNAH17 Synonymous SNV D2821D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.803 217546 chr8 128751201 128751201 G T rs2070582 MYC Synonymous SNV P245P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.502 217547 chr7 113518498 113518498 C A rs1800000 PPP1R3A Nonsynonymous SNV R883S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.004 217548 chr1 24192020 24192020 C T rs372045495 FUCA1 Nonsynonymous SNV R162Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 217549 chr1 201180142 201180142 C G IGFN1 Nonsynonymous SNV P2041A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 217550 chr1 241959600 241959600 C T rs145395572 WDR64 Synonymous SNV G1040G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.82 217551 chr22 30975789 30975789 C T rs200061162 PES1 Nonsynonymous SNV V430I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.314 217552 chr14 71492887 71492887 C T rs370947543 PCNX1 Synonymous SNV C968C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.56 217553 chr22 35481661 35481661 G T rs61735036 ISX Nonsynonymous SNV G238V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.8 217554 chr22 37162439 37162439 C G rs145605560 LOC105373021 0 0 0.003 0 0 0 0 1 0 0 0 0 2.092 217555 chr22 37420504 37420504 C T rs184103767 MPST Nonsynonymous SNV A83V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 217556 chr22 37622713 37622713 C T rs371789770 RAC2 Synonymous SNV X193X 0 0 0.01 0 0 0 0 3 0 0 0 0 16.56 217557 chr22 37964240 37964240 C T rs367706200 CDC42EP1 Nonsynonymous SNV R197C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 217558 chr22 38164123 38164123 G A rs200528850 TRIOBP Nonsynonymous SNV R459Q 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Uncertain significance 34 217559 chr11 1271642 1271642 G T MUC5B Nonsynonymous SNV R4511I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 217560 chr22 39001279 39001279 C T rs1009717984 FAM227A Nonsynonymous SNV E401K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.849 217561 chr8 144809637 144809637 T C FAM83H Nonsynonymous SNV Q665R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 217562 chr17 79660568 79660568 T G rs140893562 HGS Nonsynonymous SNV L233R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 217563 chr17 79663744 79663744 G A rs190451033 HGS Synonymous SNV A558A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.47 217564 chr11 77961280 77961280 C T rs760926311 GAB2 Synonymous SNV Q143Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.597 217565 chr17 80038686 80038686 G A rs531270526 FASN Synonymous SNV S2236S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.956 217566 chr17 80049253 80049253 T C FASN Nonsynonymous SNV Q446R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.615 217567 chr17 80320037 80320037 C T rs371327683 TEX19 Nonsynonymous SNV P4L 0.003 0 0 0 3 0 0 0 0 0 0 0 27 217568 chr8 145168587 145168587 T C WDR97 Synonymous SNV L1071L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 217569 chr22 45684952 45684952 G A rs775339594 UPK3A Nonsynonymous SNV V167I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 217570 chr22 46739206 46739206 T C rs144054758 TRMU Nonsynonymous SNV I99T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 217571 chr7 142836188 142836188 C T rs140513683 PIP Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.637 217572 chr8 145748250 145748250 C A LRRC24 Nonsynonymous SNV G384V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 217573 chr9 214517 214517 C A rs145642597 DOCK8-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 19.81 217574 chr22 50493693 50493693 T C rs188314775 TTLL8 Nonsynonymous SNV I43M 0 0 0.014 1 0 0 0.003 4 0 0 0 0 2.325 217575 chr7 149473533 149473533 G A rs778318740 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 217576 chr18 20878022 20878022 G A rs761071055 TMEM241 Synonymous SNV L280L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.827 217577 chr9 5361185 5361185 G A rs201380094 PLGRKT Nonsynonymous SNV A72V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 217578 chr11 93432895 93432895 A C CEP295 Nonsynonymous SNV Q1606P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 217579 chr18 23907010 23907010 C G rs764339786 TAF4B Nonsynonymous SNV T727S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 217580 chr18 2772301 2772301 G T SMCHD1 Synonymous SNV L1702L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.833 217581 chr18 2891083 2891083 A C rs149612261 EMILIN2 Nonsynonymous SNV S320R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.079 217582 chr9 15185328 15185328 G A rs576484227 TTC39B Nonsynonymous SNV R453C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 217583 chr7 150935035 150935035 C T rs771729748 CHPF2 Synonymous SNV Y529Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.547 217584 chr9 19786520 19786520 G A rs145512747 SLC24A2 Synonymous SNV H115H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 217585 chr18 31803084 31803084 G A rs376462407 NOL4 Nonsynonymous SNV S45L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 217586 chr15 33446863 33446863 T A FMN1 Nonsynonymous SNV T85S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.76 217587 chr9 27192562 27192562 G T rs138894008 TEK Nonsynonymous SNV R375L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.6 217588 chr15 34656239 34656239 C T LPCAT4 Synonymous SNV K209K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.98 217589 chr2 110922176 110922176 T C rs139787582 NPHP1 Nonsynonymous SNV N287S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 217590 chr7 156802504 156802504 C T rs753775463 MNX1 Nonsynonymous SNV A181T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 217591 chr1 38353074 38353074 C T rs139833474 INPP5B Synonymous SNV E157E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.72 217592 chr18 43417743 43417743 G A rs771269555 SIGLEC15 Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 217593 chr1 39720014 39720014 G A MACF1 Synonymous SNV V139V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.37 217594 chr1 18808155 18808155 G A rs755411822 KLHDC7A Nonsynonymous SNV R227H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.301 217595 chr2 11605920 11605920 G A E2F6 Nonsynonymous SNV P29L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 217596 chr18 5145572 5145572 C T rs941724144 AKAIN1 Nonsynonymous SNV E67K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 217597 chr18 52901846 52901846 C G rs143944746 TCF4 Synonymous SNV P313P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 7.804 217598 chr8 6783453 6783453 C G rs113837602 DEFA6 Nonsynonymous SNV E35D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.65 217599 chr8 6913001 6913001 G A rs60827832 DEFA5 Synonymous SNV S79S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.58 217600 chr12 110222139 110222139 C T rs202075458 TRPV4 Nonsynonymous SNV V707M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 217601 chr9 77377130 77377130 C T rs775479626 TRPM6 Nonsynonymous SNV R1481Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.438 217602 chr12 11138732 11138732 A G TAS2R50 Nonsynonymous SNV L243P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.32 217603 chr2 135872869 135872869 A T RAB3GAP1 Nonsynonymous SNV D189V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 217604 chr12 112082016 112082016 T C rs777109467 BRAP Nonsynonymous SNV K589R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.99 217605 chr12 117426554 117426554 C T rs368889689 FBXW8 Synonymous SNV A307A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.4 217606 chr8 17097244 17097244 C T rs534380200 CNOT7 Nonsynonymous SNV R123Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.046 217607 chr1 237711802 237711802 A G rs760019189 RYR2 Nonsynonymous SNV E993G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Uncertain significance 28.3 217608 chr1 53544146 53544146 C T rs577667967 PODN Nonsynonymous SNV R322W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 217609 chr9 94172507 94172507 C T rs142259863 NFIL3 Nonsynonymous SNV M170I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.143 217610 chr18 64221751 64221751 A G rs111743500 CDH19 Synonymous SNV V167V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.578 217611 chr9 95227307 95227307 C T rs1040181197 ASPN Nonsynonymous SNV M201I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 217612 chr18 6986200 6986200 T C LAMA1 Nonsynonymous SNV E1772G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.025 217613 chr1 55307517 55307517 G A LEXM Nonsynonymous SNV V410M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 217614 chr11 12316353 12316353 - CTCCTCCTC MICALCL P470_T471insPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 217615 chr9 101065640 101065640 A G rs201747907 GABBR2 Synonymous SNV N765N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.763 217616 chr1 247263785 247263785 C T rs748913715 ZNF669 Nonsynonymous SNV R343H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.697 217617 chr1 207196715 207196715 A G rs752119278 C1orf116 Nonsynonymous SNV Y132H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.35 217618 chr11 17552953 17552953 G A rs876658111 USH1C Nonsynonymous SNV R81C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 217619 chr15 56719840 56719840 - A TEX9 Frameshift insertion S261Ifs*25 0.001 0 0 1 1 0 0.003 0 0 0 0 0 217620 chr12 129028610 129028610 C T rs370765303 TMEM132C Synonymous SNV T361T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 217621 chr9 114462321 114462321 C T rs932344296 SHOC1 Synonymous SNV L929L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.855 217622 chr9 115013224 115013224 T C rs151297125 PTBP3 Nonsynonymous SNV M196V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.45 217623 chr12 132323158 132323158 C T rs142829362 MMP17 Synonymous SNV D98D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.23 217624 chr12 132510311 132510311 C T rs142300205 EP400 Nonsynonymous SNV P1659L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 14.8 217625 chr9 116226146 116226146 T C rs146533219 RGS3 Nonsynonymous SNV Y22H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.67 217626 chr8 41548021 41548021 G A rs113948846 ANK1 Nonsynonymous SNV R1319W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 35 217627 chr19 11218142 11218142 A G rs730882092 LDLR Nonsynonymous SNV M130V 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 0.005 217628 chr19 11453559 11453559 T C rs760017306 TMEM205 Nonsynonymous SNV N168D 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 217629 chr1 8419854 8419854 - CGCTCC rs201570536 RERE E647_A648insRE 0.002 0 0 0 2 0 0 0 0 0 0 0 217630 chr2 196740421 196740421 G A DNAH7 Synonymous SNV I2088I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 217631 chr9 125486303 125486303 G A rs777621639 OR1L4 Nonsynonymous SNV G12D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.027 217632 chr19 14070086 14070086 C T rs767623361 DCAF15 Synonymous SNV V338V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.44 217633 chr9 125797035 125797035 A G rs148491998 GPR21 Nonsynonymous SNV T64A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 217634 chr9 127734035 127734035 G A rs367896184 SCAI Synonymous SNV R496R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.612 217635 chr1 35972530 35972530 G A rs144745631 KIAA0319L Nonsynonymous SNV R117W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 217636 chr8 105361053 105361053 G A rs759686664 DCSTAMP Synonymous SNV L91L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.605 217637 chr16 28124236 28124236 G A XPO6 Nonsynonymous SNV L714F 0 0.003 0 3 0 1 0.008 0 0 0 0 0 29.3 217638 chr12 46316910 46316910 T C rs377666784 SCAF11 Nonsynonymous SNV N1312D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.9 217639 chr16 29755892 29755892 G A rs761708869 C16orf54 Synonymous SNV P127P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 2.24 217640 chr1 94054790 94054790 C T rs61752468 BCAR3 Nonsynonymous SNV D134N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 217641 chr19 16060612 16060612 G A rs371603588 OR10H4 Synonymous SNV K265K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.944 217642 chr12 48596372 48596372 C T rs76414343 OR10AD1 Nonsynonymous SNV R235Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.67 217643 chr16 30750923 30750923 C T rs201133838 SRCAP Nonsynonymous SNV R3188C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23 217644 chr2 218712343 218712343 C T TNS1 Nonsynonymous SNV G841D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 217645 chr9 133501859 133501859 C G FUBP3 Nonsynonymous SNV P362A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 217646 chr2 219029488 219029488 C T rs141964112 CXCR1 Synonymous SNV K149K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.081 217647 chr2 219509415 219509415 G A rs199870407 ZNF142 Synonymous SNV R608R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.345 217648 chr2 219536665 219536665 C T RNF25 Nonsynonymous SNV G10E 0 0 0.003 0 0 0 0 1 0 0 0 0 32 217649 chr2 219757870 219757870 C T rs747307399 WNT10A Synonymous SNV C377C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 217650 chr19 17369106 17369106 G T rs146079454 USHBP1 Nonsynonymous SNV Q315K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.9 217651 chr16 31488891 31488891 C A rs150598792 TGFB1I1 Nonsynonymous SNV F460L 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 31 217652 chr1 47716890 47716890 G T STIL Nonsynonymous SNV T1262K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 217653 chr2 228158003 228158011 CCTGGAAGT - rs756539994 COL4A3 S1108_G1110del 0 0 0.003 0 0 0 0 1 0 0 0 0 217654 chr9 139272242 139272242 G A rs370504482 SNAPC4 Nonsynonymous SNV A1346V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.64 217655 chr9 139317671 139317671 G A rs763602314 PMPCA Synonymous SNV S380S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.282 217656 chr16 67709902 67709902 C T rs771540117 GFOD2 Nonsynonymous SNV R105Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 217657 chr2 231222649 231222649 C T rs370274673 SP140L Synonymous SNV R54R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 217658 chr19 2248305 2248305 C T rs762256294 SF3A2 Synonymous SNV A385A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.251 217659 chr9 139835490 139835490 C T rs756606165 FBXW5 Nonsynonymous SNV D531N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 217660 chr9 139908820 139908820 G A rs747657286 ABCA2 Nonsynonymous SNV A1347V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 217661 chr19 24115351 24115351 T C rs117059537 ZNF726 Nonsynonymous SNV S145P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.84 217662 chr19 2427511 2427511 G A rs370433256 TIMM13 Synonymous SNV S7S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 217663 chr12 55759305 55759305 - GT OR6C75 Frameshift insertion T140Vfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 217664 chr12 5603554 5603554 T C rs1051583873 NTF3 Synonymous SNV N58N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.045 217665 chr16 75268876 75268876 G T BCAR1 Nonsynonymous SNV P431T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 217666 chr16 1498433 1498433 C G rs375096271 CLCN7 Nonsynonymous SNV V622L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.781 217667 chr19 35450213 35450213 C A rs375532511 ZNF792 Nonsynonymous SNV Q182H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.297 217668 chr10 5144389 5144389 C T rs782183912 AKR1C3 Stop gain R223X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 217669 chr19 35514434 35514434 G A rs370077465 GRAMD1A Nonsynonymous SNV V678M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 217670 chr16 19047001 19047001 G A rs149438219 TMC7 Synonymous SNV S177S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.89 217671 chr16 2141609 2141609 G A rs377692278 LOC105371049 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 6.233 217672 chr19 36365684 36365684 G T rs2228998 APLP1 Synonymous SNV A419A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.41 217673 chr19 36398439 36398439 G A rs760363848 TYROBP Synonymous SNV I35I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 217674 chr10 15317899 15317899 G A rs148323140 FAM171A1 Synonymous SNV L125L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.36 217675 chr12 7092668 7092668 G T LPCAT3 Nonsynonymous SNV L62I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.7 217676 chr19 36595425 36595425 C A rs147652186 WDR62 Nonsynonymous SNV L1387I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.7 217677 chr19 36605140 36605140 T G POLR2I Nonsynonymous SNV I68L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 217678 chr19 36832089 36832089 T G ZFP14 Synonymous SNV A214A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.205 217679 chr10 21461333 21461333 T C NEBL Nonsynonymous SNV E48G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 217680 chr9 34255094 34255094 C T rs372218054 KIF24 Synonymous SNV T1314T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 217681 chr16 88801443 88801443 G A rs192347853 PIEZO1 Nonsynonymous SNV T563M 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 1.405 217682 chr9 35957251 35957251 G A rs765178067 OR2S2 Nonsynonymous SNV P282L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 217683 chr2 3599804 3599804 C T rs374169440 RNASEH1 Synonymous SNV P87P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 217684 chr12 81062856 81062856 G A rs1163042 PTPRQ Nonsynonymous SNV R1916K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 32 217685 chr19 38933039 38933039 G T rs113389877 RYR1 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.82 217686 chr20 55948775 55948775 C T RAE1 Nonsynonymous SNV A269V 0.002 0 0 0 2 0 0 0 0 0 0 0 24 217687 chr11 64883381 64883381 G A rs753563762 TM7SF2 Synonymous SNV L344L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.3 217688 chr19 39002893 39002893 T C rs147012990 RYR1 Nonsynonymous SNV M3081T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.92 217689 chr19 39104576 39104576 C T rs373830703 MAP4K1 Synonymous SNV S159S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 217690 chr2 42588260 42588260 T C rs149297722 COX7A2L Synonymous SNV G14G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.223 217691 chr19 39914075 39914075 C T rs772031394 PLEKHG2 Nonsynonymous SNV S735L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 217692 chr16 31193847 31193847 C T rs144888138 FUS Nonsynonymous SNV P18S 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 19.24 217693 chr9 75781079 75781079 G A ANXA1 Nonsynonymous SNV G258D 0.001 0 0 0 1 0 0 0 0 0 0 0 34 217694 chr1 986187 986187 C T rs147681220 AGRN Synonymous SNV G1741G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.58 217695 chr16 3304268 3304268 G A rs104895081 MEFV Nonsynonymous SNV T267I 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.01 217696 chr2 47709918 47709918 C A rs63751469 MSH2 Nonsynonymous SNV Q879K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 217697 chr9 79270368 79270368 A G rs201410963 PRUNE2 Nonsynonymous SNV L40P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 217698 chr9 79319973 79319973 T C rs532456130 PRUNE2 Nonsynonymous SNV Q2406R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 217699 chr12 96371826 96371826 G A rs754819630 HAL Nonsynonymous SNV S309L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 217700 chr20 60736507 60736507 A G rs751255404 SS18L1 Nonsynonymous SNV M83V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 217701 chr19 41754718 41754718 G A rs372248009 AXL Synonymous SNV T300T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.73 217702 chr2 58459232 58459232 G A rs55849827 FANCL Nonsynonymous SNV L38F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 26.1 217703 chr13 101287121 101287121 C T rs200123023 TMTC4 Nonsynonymous SNV E352K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 217704 chr10 50315926 50315926 A C VSTM4 Nonsynonymous SNV L57W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 217705 chr2 65298617 65298617 G A rs769186343 CEP68 Synonymous SNV E129E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.265 217706 chr10 50680422 50680422 C T rs145720191 ERCC6 Nonsynonymous SNV R975Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 217707 chr2 71337246 71337246 T C MCEE Nonsynonymous SNV N129D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.676 217708 chr19 43983577 43983577 G A rs766397211 PHLDB3 Stop gain R552X 0.002 0 0 0 2 0 0 0 0 0 0 0 40 217709 chr2 71576922 71576922 A G rs150990011 ZNF638 Nonsynonymous SNV N280D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 217710 chr2 74274592 74274592 G A rs192465050 TET3 Synonymous SNV S423S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.126 217711 chr11 77832207 77832207 T C rs111831728 ALG8 Nonsynonymous SNV I128V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.679 217712 chr11 77916983 77916983 G A rs761313076 USP35 Synonymous SNV R431R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 217713 chr11 77921145 77921145 C T rs759742553 USP35 Synonymous SNV S748S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 217714 chr2 86348612 86348612 G C PTCD3 Synonymous SNV V183V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 217715 chr21 32015212 32015212 G A KRTAP20-3 Nonsynonymous SNV S2N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 217716 chr10 74695439 74695439 C T rs752646456 PLA2G12B Nonsynonymous SNV R85H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 217717 chr19 45667207 45667207 C T rs146867163 TRAPPC6A Nonsynonymous SNV V139M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.16 217718 chr11 94592735 94592735 C T rs780806065 AMOTL1 Nonsynonymous SNV P614S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 217719 chr10 77161100 77161100 - CCGCCT rs762649774 ZNF503 G27_A28insGG 0.002 0 0 0 2 0 0 0 0 0 0 0 217720 chr10 79569449 79569449 G A rs142321346 DLG5 Synonymous SNV R1501R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.267 217721 chr19 47242081 47242081 C G STRN4 Nonsynonymous SNV R116P 0.002 0 0 0 2 0 0 0 0 0 0 0 34 217722 chr11 102477269 102477269 T C rs757946027 MMP20 Nonsynonymous SNV D317G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 217723 chr3 111887771 111887771 G A rs202229232 SLC9C1 Stop gain R1016X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 41 217724 chr3 113005589 113005589 T A rs373669626 BOC Nonsynonymous SNV S1076R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 217725 chr19 48608642 48608642 C T rs377414088 PLA2G4C Nonsynonymous SNV R33Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 217726 chr3 113795743 113795743 C T rs376673299 QTRT2 Nonsynonymous SNV R128C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 217727 chr1 6528150 6528150 T G rs187886272 PLEKHG5 Nonsynonymous SNV T916P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.85 217728 chr19 48807031 48807031 C G CCDC114 Synonymous SNV V251V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.364 217729 chr10 94110866 94110866 G T rs756369421 MARCHF5 Nonsynonymous SNV A247S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.66 217730 chr10 94110867 94110867 C T rs777787717 MARCHF5 Nonsynonymous SNV A247V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.55 217731 chr3 121341826 121341826 G A rs149716243 FBXO40 Nonsynonymous SNV G517E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 217732 chr21 45523392 45523392 C T TRAPPC10 Synonymous SNV L787L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 217733 chr19 50037648 50037648 G A rs749043450 RCN3 Synonymous SNV A147A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.12 217734 chr10 98741984 98741984 A G rs144405307 LCOR Synonymous SNV Q589Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 217735 chr13 73337732 73337732 T C DIS3 Nonsynonymous SNV M539V 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 217736 chr11 118111081 118111081 C T rs201186451 MPZL3 Nonsynonymous SNV V29I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 217737 chr21 46917515 46917515 A G rs371993501 COL18A1 Nonsynonymous SNV N1055D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.751 217738 chr3 124436150 124436150 A G KALRN Nonsynonymous SNV E1080G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 217739 chr19 50473195 50473195 C T rs200424248 SIGLEC16 Nonsynonymous SNV A56V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.445 217740 chr19 50657032 50657032 A C IZUMO2 Nonsynonymous SNV C219G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.023 217741 chr19 50785021 50785021 G A rs749718837 MYH14 Synonymous SNV L1446L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.17 217742 chr11 119217017 119217017 T C MFRP Nonsynonymous SNV E41G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.409 217743 chr10 101563777 101563777 C G ABCC2 Nonsynonymous SNV A404G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 217744 chr21 47783707 47783707 C T PCNT Stop gain Q705X 0.002 0 0 0 2 0 0 0 0 0 0 0 39 217745 chr22 17280669 17280669 A G XKR3 Nonsynonymous SNV L194S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 217746 chr10 103869196 103869196 G A rs766934034 LDB1 Synonymous SNV R267R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.32 217747 chr20 60883755 60883755 G A rs373954705 ADRM1 Nonsynonymous SNV E349K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 217748 chr9 139265810 139265810 G T rs137986801 CARD9 Synonymous SNV G96G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 2.708 217749 chr3 136574420 136574420 A G rs140456008 SLC35G2 Nonsynonymous SNV Y373C 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 14.45 217750 chr9 139354517 139354517 C T rs201051805 SEC16A Nonsynonymous SNV G1684R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 217751 chr3 13670665 13670665 C T rs150370011 FBLN2 Synonymous SNV D858D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.236 217752 chr9 139370120 139370120 C T rs200785473 SEC16A Nonsynonymous SNV A650T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.571 217753 chr3 138117387 138117387 A C rs772334762 MRAS Nonsynonymous SNV K66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 217754 chr3 141011250 141011250 G A PXYLP1 Nonsynonymous SNV A216T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 217755 chr3 141163436 141163436 A G rs200730943 ZBTB38 Nonsynonymous SNV M736V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 217756 chr3 14200140 14200140 G A rs757958943 XPC Stop gain R222X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 27.8 217757 chr19 53384514 53384514 C T rs557716050 ZNF320 Nonsynonymous SNV V289I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.075 217758 chr17 37342773 37342773 G A rs150358237 CACNB1 Nonsynonymous SNV R202C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 217759 chr3 151161443 151161443 T C rs577860052 IGSF10 Synonymous SNV E1764E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.207 217760 chr22 30857349 30857349 G A rs557756271 SEC14L3 Synonymous SNV N343N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.476 217761 chr3 169572722 169572722 G A LRRC31 Synonymous SNV S234S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 217762 chr22 31662059 31662059 C G rs145908769 LIMK2 Nonsynonymous SNV P307A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.89 217763 chr10 12867617 12867617 C T rs200236740 CAMK1D Nonsynonymous SNV H323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 217764 chr10 12870807 12870807 C T rs148446769 CAMK1D Nonsynonymous SNV S360L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 217765 chr12 6623453 6623453 C T rs201733141 NCAPD2 Nonsynonymous SNV R204C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 217766 chr14 24649067 24649067 C T REC8 Nonsynonymous SNV L504F 0 0 0 2 0 0 0.005 0 0 0 0 0 15.63 217767 chr11 284626 284626 G A rs117664979 NLRP6 Nonsynonymous SNV G841S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.044 217768 chr11 294607 294607 C T rs141707471 PGGHG Nonsynonymous SNV P691L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.538 217769 chr3 189349352 189349352 C T TP63 Synonymous SNV D16D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 217770 chr19 57290803 57290803 C T rs140549939 ZIM2 Synonymous SNV L228L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.811 217771 chr3 190374100 190374100 G A IL1RAP Nonsynonymous SNV A590T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.093 217772 chr11 640577 640577 C T rs373483649 DRD4 Nonsynonymous SNV R412C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 217773 chr12 10228184 10228184 G T CLEC1A Nonsynonymous SNV D62E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 217774 chr14 37135688 37135688 A G rs756212377 PAX9 Nonsynonymous SNV H218R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.677 217775 chr22 42609543 42609543 G A rs779125584 TCF20 Nonsynonymous SNV P590L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 217776 chr14 39819356 39819356 G C rs144102688 MIA2 Nonsynonymous SNV G670A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 217777 chr21 44427660 44427660 A C rs753331980 PKNOX1 Synonymous SNV A37A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.914 217778 chr22 43557110 43557110 G A TSPO Nonsynonymous SNV V79M 0.002 0 0 0 2 0 0 0 0 0 0 0 8.131 217779 chr3 194371618 194371618 C T rs777303992 LSG1 Nonsynonymous SNV V471I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.171 217780 chr22 44178114 44178114 G A rs201115241 EFCAB6 Nonsynonymous SNV P29S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.09 217781 chr17 34171551 34171551 - GGCTATGGTGGAGACAGAAGTGGGGGT TAF15 S429_S430insGGGYGGDRS 0 0 0 1 0 0 0.003 0 0 0 0 0 217782 chr19 6040046 6040046 C A rs143838272 RFX2 Nonsynonymous SNV G156V 0.002 0 0 0 2 0 0 0 0 0 0 0 25 217783 chr19 6381166 6381166 A T rs376779199 GTF2F1 Synonymous SNV I353I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.779 217784 chr10 50678550 50678550 A C rs148366188 ERCC6 Synonymous SNV G1152G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.009 217785 chr20 48257146 48257146 T C B4GALT5 Synonymous SNV A221A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.119 217786 chr3 38052927 38052991 GGTCACACTCCTGCAGAGCCAGGACAGCCGAGTGGGCTCAGAGCAGGCCTTGGGCCGGGGTCAAG - PLCD1 E208Tfs*19 0 0 0.003 1 0 0 0.003 1 0 0 0 0 217787 chr10 55581883 55581883 G A rs191736346 PCDH15 Nonsynonymous SNV T1828M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.2 217788 chr10 55996665 55996665 C T rs189227500 PCDH15 Synonymous SNV T264T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.59 217789 chr3 39178869 39178869 G A rs756540734 TTC21A Synonymous SNV A1106A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.858 217790 chr3 39544231 39544231 C T MOBP Nonsynonymous SNV R138C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 217791 chr12 29460687 29460687 G A rs370532615 FAR2 Synonymous SNV V117V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.42 217792 chr19 8203114 8203114 A G rs148024558 FBN3 Nonsynonymous SNV M371T 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.002 217793 chr3 43732510 43732510 A G rs144420157 ABHD5 Nonsynonymous SNV D9G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.109 217794 chr12 32138196 32138196 G C rs200124166 RESF1 Nonsynonymous SNV S1436T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.424 217795 chr14 68244906 68244906 G A rs200243306 ZFYVE26 Synonymous SNV I1578I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.1 217796 chr11 4080544 4080544 T A rs767768485 STIM1 Synonymous SNV T177T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.83 217797 chr2 113251734 113251734 G C rs767661782 TTL Nonsynonymous SNV S84T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 217798 chr2 113251735 113251735 C T rs753003625 TTL Synonymous SNV S84S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.88 217799 chr14 77767488 77767488 C T POMT2 Nonsynonymous SNV G254E 0 0 0 1 0 0 0.003 0 0 0 0 0 34 217800 chr10 81070824 81070824 G A rs147630972 ZMIZ1 Synonymous SNV P993P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.979 217801 chr22 28194912 28194912 - TGC rs767561118 MN1 Q550_R551insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 217802 chr10 90966441 90966441 G A CH25H Synonymous SNV F203F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 217803 chr22 31658175 31658175 C G rs200312431 LIMK2 Nonsynonymous SNV R182G 0.004 0 0 2 5 0 0.005 0 0 0 0 0 31 217804 chr17 42030331 42030331 A - rs755291974 PYY L96Rfs*6 0 0 0 2 0 0 0.005 0 0 0 0 0 217805 chr2 131099683 131099683 G C CCDC115 Nonsynonymous SNV L6V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 217806 chr22 32827351 32827351 G A rs751183186 BPIFC Synonymous SNV C400C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.318 217807 chr3 52514283 52514283 C T rs200065466 NISCH Synonymous SNV S500S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.53 217808 chr1 1022582 1022582 C A rs371815645 C1orf159 Nonsynonymous SNV A83S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.126 217809 chr1 109276139 109276139 A G FNDC7 Nonsynonymous SNV K709E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 217810 chr3 56026270 56026270 A G rs760845127 ERC2 Synonymous SNV N690N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 217811 chr1 109734046 109734046 G T rs200434378 KIAA1324 Nonsynonymous SNV V162F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 217812 chr3 58132575 58132575 C T FLNB Synonymous SNV P1837P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 217813 chr22 40362149 40362149 C A rs139269286 GRAP2 Nonsynonymous SNV T149N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 217814 chr21 34927051 34927051 G A SON Synonymous SNV K1838K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.779 217815 chr3 66455661 66455661 G A rs372603698 LRIG1 Nonsynonymous SNV T374M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 217816 chr3 71804049 71804049 C T GPR27 Synonymous SNV C283C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 217817 chr15 101825211 101825211 G A rs758306300 SNRPA1 Synonymous SNV L224L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 217818 chr10 102005584 102005586 AGA - rs779118978 CWF19L1 S175del 0.001 0 0 0 1 0 0 0 0 0 0 0 217819 chr11 6412736 6412736 G A rs148944108 SMPD1 Synonymous SNV V147V 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.913 217820 chr12 56827940 56827940 C T rs931506253 TIMELESS Nonsynonymous SNV M5I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 217821 chr1 114372632 114372632 A C PTPN22 Synonymous SNV S636S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.858 217822 chr15 32322914 32322914 C T rs561757749 CHRNA7 Synonymous SNV A39A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.96 217823 chr15 32925274 32925274 G A rs61733063 ARHGAP11A, ARHGAP11A-SCG5 Synonymous SNV R211R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 12.72 217824 chr15 32928635 32928635 T C rs115031896 ARHGAP11A Nonsynonymous SNV I365T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 217825 chr15 32929908 32929908 C T rs28754599 ARHGAP11A Synonymous SNV N789N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 1.503 217826 chr1 114512677 114512677 C G rs148153683 HIPK1 Synonymous SNV T563T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.18 217827 chr3 9918805 9918805 T G CIDEC Nonsynonymous SNV D51A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 217828 chr21 44324025 44324025 G A rs62000418 NDUFV3 Synonymous SNV A301A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.445 217829 chr4 100574669 100574669 T C rs184879252 C4orf54 Synonymous SNV E379E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 217830 chr12 70964910 70964910 G C rs780247315 PTPRB Nonsynonymous SNV T781S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.469 217831 chr1 118477187 118477187 C G WDR3 Nonsynonymous SNV S88W 0.001 0 0 0 1 0 0 0 0 0 0 0 26 217832 chr17 60749112 60749112 A G rs544511873 MRC2 Nonsynonymous SNV K407R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.49 217833 chr2 178936895 178936895 G A rs781128252 PDE11A Synonymous SNV G90G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 217834 chr4 106576760 106576760 G A rs202237437 ARHGEF38 Nonsynonymous SNV D372N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 217835 chr1 118501965 118501965 C T rs147355005 WDR3 Synonymous SNV C909C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 217836 chr1 118583459 118583459 G A rs201385376 SPAG17 Synonymous SNV H1020H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.089 217837 chr12 76740971 76740971 T G rs771207018 BBS10 Nonsynonymous SNV Q265P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 217838 chr22 50895511 50895511 G A rs139035064 SBF1 Synonymous SNV L1286L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 12.56 217839 chr2 179641034 179641034 G C rs778377360 TTN Nonsynonymous SNV L1807V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.168 217840 chr15 42235339 42235339 T C rs141695670 EHD4 Nonsynonymous SNV N146S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 217841 chr15 44089414 44089414 - AG rs143233262 SERINC4 Frameshift insertion M258Tfs*45 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 217842 chr4 123663321 123663321 G A rs973844350 BBS12 Nonsynonymous SNV V92I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.95 217843 chr22 19195779 19195779 T C rs782364047 CLTCL1 Nonsynonymous SNV K1162R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 217844 chr15 44949354 44949354 C T rs80338868 SPG11 Nonsynonymous SNV V270I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign/Likely benign 23.6 217845 chr11 18723338 18723338 G A rs142350678 TMEM86A Nonsynonymous SNV G169R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 217846 chr15 45444663 45444663 G A rs201511067 DUOX1 Nonsynonymous SNV A1125T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 217847 chr12 107254046 107254046 T C RIC8B Nonsynonymous SNV V420A 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 217848 chr1 152883840 152883840 C G rs267598045 IVL Nonsynonymous SNV L523V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 217849 chr12 108985745 108985745 C T TMEM119 Nonsynonymous SNV D139N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 217850 chr11 34482891 34482891 G C CAT Nonsynonymous SNV A384P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 217851 chr4 156632212 156632212 C A rs201665938 GUCY1A1 Nonsynonymous SNV L299M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 217852 chr1 155108872 155108872 G A SLC50A1 Nonsynonymous SNV R46H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.71 217853 chr4 164087554 164087554 T C NAF1 Nonsynonymous SNV D109G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.419 217854 chr4 169232163 169232163 T C rs779744823 DDX60 Synonymous SNV E20E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.144 217855 chr15 65450131 65450131 G A CLPX Nonsynonymous SNV A337V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 217856 chr11 48145280 48145280 A T PTPRJ Synonymous SNV G244G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 217857 chr1 156566196 156566196 C A rs147014962 GPATCH4 Synonymous SNV G141G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.35 217858 chr11 792640 792640 C T rs201089795 SLC25A22 Nonsynonymous SNV R167Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 217859 chr1 156821949 156821949 C T rs548404413 INSRR Synonymous SNV A224A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.17 217860 chr1 156830883 156830883 G A NTRK1 Nonsynonymous SNV D53N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.184 217861 chr1 156838350 156838350 G A rs745366033 NTRK1 Nonsynonymous SNV D210N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.14 217862 chr4 178911664 178911666 AGA - rs546962182 LINC01098 0 0 0.007 0 0 0 0 2 0 0 0 0 217863 chr1 158153808 158153808 C A rs141337009 CD1D Synonymous SNV S230S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 217864 chr15 74280941 74280941 A G rs763300688 STOML1 Nonsynonymous SNV L148P 0 0 0 1 0 0 0.003 0 0 0 0 0 24 217865 chr15 74427318 74427318 G A rs116064406 ISLR2 Synonymous SNV R741R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.86 217866 chr15 74474686 74474686 C T rs351241 STRA6 Synonymous SNV S472S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 8.807 217867 chr19 757648 757648 C G rs74634086 MISP Nonsynonymous SNV F234L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.001 217868 chr15 75116714 75116714 G A rs201131489 LMAN1L Nonsynonymous SNV R449H 0 0 0 2 0 0 0.005 0 0 0 0 0 11.24 217869 chr4 187509786 187509786 G A rs142057401 FAT1 Nonsynonymous SNV T4576M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.96 217870 chr4 187518127 187518127 A G rs35694170 FAT1 Synonymous SNV V4189V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.113 217871 chr4 187525592 187525592 A G rs35216841 FAT1 Nonsynonymous SNV V3496A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.272 217872 chr4 187557955 187557955 G A rs2035819 FAT1 Synonymous SNV I1252I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.35 217873 chr4 22394252 22394252 C T rs966886838 ADGRA3 Nonsynonymous SNV R848Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 217874 chr1 159175428 159175428 C T rs118062001 ACKR1 Nonsynonymous SNV L69F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.232 217875 chr4 23815566 23815566 T C PPARGC1A Nonsynonymous SNV S387G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 217876 chr1 159505566 159505566 C G OR10J5 Nonsynonymous SNV V78L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.114 217877 chr4 2628296 2628296 C T rs1018463314 FAM193A Synonymous SNV L208L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 217878 chr2 227661994 227661994 C T IRS1 Synonymous SNV R487R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.958 217879 chr1 160456503 160456503 G A rs149765740 SLAMF6 Synonymous SNV V220V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.26 217880 chr15 80181459 80181459 C G rs145953716 MTHFS, ST20-MTHFS Nonsynonymous SNV V62L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.06 217881 chr4 3768513 3768513 C T rs753303461 ADRA2C Synonymous SNV F60F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 217882 chr19 1785612 1785612 G A rs200569321 ATP8B3 Synonymous SNV I1046I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.948 217883 chr1 16460097 16460097 T C rs773033022 EPHA2 Synonymous SNV Q527Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.606 217884 chr11 1272895 1272895 C G MUC5B Nonsynonymous SNV L4929V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.965 217885 chr4 4440126 4440126 C T rs141565171 STX18 Nonsynonymous SNV R122H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.076 217886 chr15 89400385 89400385 G A ACAN Synonymous SNV E1523E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.683 217887 chr4 49063893 49063893 A - rs538616012 CWH43 K669Nfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 217888 chr2 179517386 179517386 C T rs755524042 TTN Nonsynonymous SNV V13013I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 217889 chr4 55984794 55984794 G A rs761016513 KDR Nonsynonymous SNV S112L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 217890 chr4 6234929 6234929 C T rs528019459 LINC02495 0 0 0.003 0 0 0 0 1 0 0 0 0 5.854 217891 chr1 17401367 17401367 C T rs763443384 PADI2 Synonymous SNV E511E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.47 217892 chr1 175066610 175066610 T C TNN Nonsynonymous SNV I549T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 217893 chr4 66361229 66361229 G C EPHA5 Nonsynonymous SNV H315D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.96 217894 chr4 667159 667159 C G rs776161747 ATP5ME Nonsynonymous SNV R41S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 217895 chr18 2703731 2703731 G A rs78073508 SMCHD1 Synonymous SNV L563L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.97 217896 chr18 2747600 2747600 G A rs371339816 SMCHD1 Synonymous SNV P1294P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.542 217897 chr11 58979797 58979797 C T rs370491206 MPEG1 Nonsynonymous SNV R181H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.037 217898 chr4 73012845 73012845 A T NPFFR2 Nonsynonymous SNV R295S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 217899 chr2 26179218 26179218 G C rs542037236 KIF3C Synonymous SNV A547A 0.004 0 0 0 5 0 0 0 0 0 0 0 12.35 217900 chr2 20096804 20096804 G C rs371719169 TTC32 Nonsynonymous SNV Q134E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 217901 chr2 27291523 27291523 T C AGBL5 Nonsynonymous SNV S756P 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 217902 chr2 10784467 10784467 C G rs148529864 NOL10 Nonsynonymous SNV K309N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.6 217903 chr1 182921092 182921092 C A SHCBP1L Nonsynonymous SNV D10Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.762 217904 chr11 60901606 60901606 A G rs767593613 VPS37C Nonsynonymous SNV F56S 0.001 0 0 0 1 0 0 0 0 0 0 0 26 217905 chr11 62378807 62378807 G A rs201693862 EML3 Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 217906 chr4 8242440 8242440 G C SH3TC1 Nonsynonymous SNV A1181P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 217907 chr11 62911105 62911105 G A SLC22A24 Synonymous SNV C49C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.348 217908 chr11 6261342 6261342 G A rs186291453 CNGA4 Synonymous SNV S106S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.789 217909 chr16 19725703 19725703 G A rs61741525 KNOP1 Nonsynonymous SNV H219Y 0 0 0 2 0 0 0.005 0 0 0 0 0 2.996 217910 chr4 88375550 88375550 C T rs746699081 NUDT9 Stop gain R241X 0 0 0.003 0 0 0 0 1 0 0 0 0 45 217911 chr11 64677357 64677357 G A rs200849383 ATG2A Nonsynonymous SNV R635W 0.002 0 0 0 2 0 0 0 0 0 0 0 19.06 217912 chr4 90857012 90857012 C T rs879464947 MMRN1 Synonymous SNV G727G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 217913 chr16 29708392 29708392 G A rs147793931 QPRT Nonsynonymous SNV V64M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.696 217914 chr5 114860044 114860044 G C FEM1C Nonsynonymous SNV I605M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 217915 chr11 67271589 67271589 C T PITPNM1 Synonymous SNV Q21Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 217916 chr11 10613146 10613146 T C rs750640992 MRVI1 Nonsynonymous SNV N415S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.96 217917 chr5 118573103 118573103 A G DMXL1 Synonymous SNV P2657P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 217918 chr16 30768880 30768880 C T rs775575214 CCDC189 Nonsynonymous SNV E305K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 217919 chr5 1278822 1278822 G A rs769553764 TERT Synonymous SNV C740C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.891 217920 chr5 131977884 131977884 G A rs786203127 RAD50 Nonsynonymous SNV R1256H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 217921 chr11 71721895 71721895 T C rs753259598 NUMA1 Synonymous SNV E1538E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.064 217922 chr5 132535360 132535360 C A rs754339021 FSTL4 Synonymous SNV L652L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 217923 chr1 207646477 207646477 G A rs149972318 CR2 Nonsynonymous SNV C644Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.1 217924 chr11 73753178 73753178 C T C2CD3 Nonsynonymous SNV G1861R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 217925 chr2 230902153 230902153 C T rs111580291 SLC16A14 Synonymous SNV P492P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 217926 chr11 20623060 20623060 G C rs747760232 SLC6A5 Nonsynonymous SNV G130A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 217927 chr2 232326668 232326668 C T NCL Nonsynonymous SNV V66I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 217928 chr5 139216541 139216541 G A rs138380367 PSD2 Nonsynonymous SNV G517S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 217929 chr11 85437264 85437264 A G rs147296637 SYTL2 Nonsynonymous SNV M1046T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 217930 chr1 220324715 220324715 T C rs59190330 RAB3GAP2 Nonsynonymous SNV I1354V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.539 217931 chr5 140810890 140810890 T C PCDHGA12 Synonymous SNV G188G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 217932 chr2 240056097 240056097 C T rs771581695 HDAC4 Nonsynonymous SNV A380T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 217933 chr5 141337003 141337003 G A rs377101273 PCDH12 Synonymous SNV G138G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.21 217934 chr11 100933407 100933407 G A rs139646398 PGR Synonymous SNV G661G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 13.77 217935 chr16 57844648 57844648 C T rs61742569 LOC388282 Nonsynonymous SNV H10Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.341 217936 chr5 14714782 14714782 A G rs41396244 LOC100130744 0 0 0.007 0 0 0 0 2 0 0 0 0 3.086 217937 chr11 102584484 102584484 C T rs141116762 MMP8 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 23.3 217938 chr5 14826085 14826085 C T rs79965325 MIR4637 0 0 0.003 0 0 0 0 1 0 0 0 0 7.446 217939 chr5 148622075 148622075 G A rs148670601 ABLIM3 Nonsynonymous SNV R347Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 217940 chr1 228033224 228033224 T A rs769087934 PRSS38 Nonsynonymous SNV W213R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.997 217941 chr1 228495081 228495081 G A rs750397090 OBSCN Synonymous SNV E4105E 0.003 0 0 0 4 0 0 0 0 0 0 0 5.836 217942 chr5 150891923 150891923 G A FAT2 Nonsynonymous SNV S3903L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 217943 chr2 26410326 26410326 C T rs186209451 GAREM2 Nonsynonymous SNV H609Y 0.002 0 0 0 2 0 0 0 0 0 0 0 4.666 217944 chr2 26414237 26414237 C A HADHA Nonsynonymous SNV G725V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 217945 chr2 196737142 196737142 G A DNAH7 Synonymous SNV G2155G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 217946 chr14 64548293 64548293 G C rs138514054 SYNE2 Nonsynonymous SNV V3827L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.172 217947 chr1 230914769 230914769 A G rs143810036 CAPN9 Nonsynonymous SNV N272S 0.002 0 0 0 2 0 0 0 0 0 0 0 26 217948 chr1 23189565 23189565 G C rs142113032 EPHB2 Nonsynonymous SNV D283H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.2 217949 chr2 204801578 204801578 G A rs776057192 ICOS Nonsynonymous SNV R14H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.715 217950 chr2 32640038 32640038 A C rs150426823 BIRC6 Nonsynonymous SNV H560P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.21 217951 chr5 170338055 170338055 T G RANBP17 Nonsynonymous SNV L226R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 217952 chr5 171621246 171621246 A G rs755074120 EFCAB9 Nonsynonymous SNV R24G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 217953 chr1 237934126 237934126 C T rs397516505 RYR2 Synonymous SNV D3832D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.67 217954 chr11 120996545 120996545 A G rs763059186 TECTA Nonsynonymous SNV I580V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 217955 chr5 176318457 176318457 C G rs766651631 HK3 Nonsynonymous SNV G64A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 217956 chr3 12632404 12632404 G T RAF1 Synonymous SNV T307T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.6 217957 chr5 176936823 176936823 C - rs776332389 DOK3 A11Rfs*5 0 0 0.003 1 0 0 0.003 1 0 0 0 0 217958 chr11 124056316 124056316 T C OR10D3 Synonymous SNV L114L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.122 217959 chr5 180625790 180625790 A G rs775352339 TRIM7 Synonymous SNV P114P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.712 217960 chr5 32074149 32074149 A G rs61746949 PDZD2 Synonymous SNV E979E 0 0 0.007 0 0 0 0 2 0 0 0 0 5.02 217961 chr5 32074745 32074745 A G rs57158698 PDZD2 Nonsynonymous SNV E1178G 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 217962 chr2 70165235 70165235 T C MXD1 Nonsynonymous SNV I152T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 217963 chr5 32093079 32093079 A G rs16889443 PDZD2 Synonymous SNV G2598G 0.003 0 0.01 0 3 0 0 3 0 0 0 0 0.626 217964 chr5 33684006 33684006 C T rs10052345 ADAMTS12 Synonymous SNV G263G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.44 217965 chr3 136676960 136676960 A G IL20RB Nonsynonymous SNV Q2R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.326 217966 chr11 130332636 130332636 A G rs367635274 ADAMTS15 Synonymous SNV K501K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.276 217967 chr16 88872998 88872998 C T rs756950773 CDT1 Synonymous SNV A346A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 217968 chr5 35084662 35084662 T C rs534781438 PRLR Nonsynonymous SNV M95V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 217969 chr5 35909974 35909974 A T CAPSL Nonsynonymous SNV D173E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 217970 chr2 73118586 73118586 G A rs371904378 SPR Nonsynonymous SNV V236M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.59 217971 chr2 73761975 73761975 A C ALMS1 Nonsynonymous SNV K3268T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 217972 chr17 12819253 12819253 G A rs147471774 ARHGAP44 Synonymous SNV K104K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.19 217973 chr5 55422886 55422886 C - ANKRD55 P221Rfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 217974 chr1 29581894 29581894 C T rs148144154 PTPRU Nonsynonymous SNV R61W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 217975 chr11 62598584 62598584 - G rs746707646 STX5, STX5 Frameshift insertion V45Sfs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 217976 chr3 158539799 158539799 T A rs148701924 MFSD1 Nonsynonymous SNV M277K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 217977 chr12 8084070 8084070 A T rs751821942 SLC2A3 Nonsynonymous SNV M94K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 217978 chr1 36554686 36554686 G A rs781657776 ADPRHL2 Nonsynonymous SNV D61N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.61 217979 chr5 74096727 74096727 A T rs755287315 FAM169A Nonsynonymous SNV S361T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 217980 chr3 172353780 172353780 T C rs144598161 NCEH1 Nonsynonymous SNV M46V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.05 217981 chr2 240003840 240003840 G A rs150255381 HDAC4 Synonymous SNV Y865Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.25 217982 chr1 40318521 40318521 T C rs749004054 TRIT1 Nonsynonymous SNV I68V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 217983 chr3 183905970 183905970 G A rs532627156 ABCF3 Nonsynonymous SNV R198H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 217984 chr12 12630392 12630392 G A rs150775273 DUSP16 Nonsynonymous SNV T458I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.127 217985 chr2 241889887 241889887 G A rs369202466 CROCC2 Nonsynonymous SNV R930Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 217986 chr11 65745113 65745113 C T rs774756783 SART1 Synonymous SNV I675I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 217987 chr5 79373995 79373995 T - rs909525950 THBS4 V646Afs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 217988 chr15 42003317 42003317 A G rs187886579 MGA Nonsynonymous SNV N952D 0.003 0.008 0 0 3 3 0 0 0 0 0 0 10.28 217989 chr12 21998683 21998683 G A rs78979794 ABCC9 Nonsynonymous SNV R984C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 217990 chr5 89990041 89990041 G A rs143632883 ADGRV1 Nonsynonymous SNV A2490T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 25.5 217991 chr1 47748129 47748129 G A rs149185431 STIL Nonsynonymous SNV S379F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 217992 chr15 44087721 44087721 G C SERINC4 Nonsynonymous SNV A159G 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.214 217993 chr3 123383085 123383085 C A MYLK Nonsynonymous SNV M1108I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 217994 chr1 51873879 51873879 A C rs150935900 EPS15 Nonsynonymous SNV S153R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.07 217995 chr1 53237122 53237122 C T rs760253970 ZYG11B Synonymous SNV D209D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.221 217996 chr6 110752441 110752441 C A rs752227798 SLC22A16 Nonsynonymous SNV C485F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 217997 chr3 196675321 196675321 C T rs199521863 PIGZ Synonymous SNV P149P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.346 217998 chr12 48737020 48737020 T C ZNF641 Synonymous SNV Q328Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 217999 chr3 20043487 20043487 T A rs201198989 PP2D1 Nonsynonymous SNV K42M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 218000 chr12 49420672 49420672 G A rs957154857 KMT2D Nonsynonymous SNV P5026L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 218001 chr12 50188958 50188958 C T NCKAP5L Synonymous SNV V895V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.452 218002 chr6 117710765 117710765 C A rs142940626 ROS1 Nonsynonymous SNV A503S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 218003 chr12 50744836 50744836 T G rs756950952 FAM186A Nonsynonymous SNV T1927P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 218004 chr6 125230013 125230013 A T RNF217-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 218005 chr17 38785038 38785038 - AAA SMARCE1 *412delinsF* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 218006 chr3 38647592 38647592 G A rs749683415 SCN5A Synonymous SNV V396V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 12.56 218007 chr6 132909969 132909969 A T TAAR5 Nonsynonymous SNV V286D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 218008 chr11 92258063 92258063 A G FAT3 Nonsynonymous SNV R1186G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 218009 chr6 134436609 134436609 G A rs73556753 HMGA1P7 0 0 0.01 0 0 0 0 3 0 0 1 0 3.52 218010 chr6 134436630 134436630 T C rs73556756 HMGA1P7 0 0 0.01 0 0 0 0 3 0 0 1 0 0.242 218011 chr12 52984712 52984712 C A rs202199905 KRT72 Nonsynonymous SNV G333W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29 218012 chr1 70671121 70671121 C A rs138598894 LRRC40 Nonsynonymous SNV A35S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 218013 chr1 79383571 79383571 G A rs77643573 ADGRL4 Synonymous SNV A542A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 218014 chr12 53875813 53875813 A G rs770089875 MAP3K12 Nonsynonymous SNV I831T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 218015 chr1 86907143 86907143 G A CLCA2 Nonsynonymous SNV D469N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 218016 chr3 151475046 151475046 G A rs201721954 AADACL2 Synonymous SNV K290K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 218017 chr3 156272799 156272799 T C rs372361484 SSR3 Nonsynonymous SNV K27R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 218018 chr6 158924713 158924713 C T rs370511300 TULP4 Nonsynonymous SNV R1340C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 218019 chr12 56563681 56563681 T C SMARCC2 Synonymous SNV G778G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.474 218020 chr11 116691613 116691624 CTGCTCCTGCTG - rs745655298 APOA4 Q384_Q387del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 218021 chr11 116730315 116730315 C T rs74794970 SIK3 Nonsynonymous SNV A763T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.29 218022 chr1 9070211 9070211 G C SLC2A7 Synonymous SNV L369L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.356 218023 chr11 117267893 117267893 G A rs144910893 CEP164 Nonsynonymous SNV R1125H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.37 218024 chr11 117389301 117389301 C T rs542744881 DSCAML1 Nonsynonymous SNV G464S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 218025 chr6 160514166 160514166 C T rs1014754260 LOC729603 0 0 0.003 0 0 0 0 1 0 0 0 0 4.922 218026 chr6 167719484 167719484 G A rs35854179 UNC93A Nonsynonymous SNV V266M 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.164 218027 chr12 64587872 64587872 T C C12orf66 Nonsynonymous SNV N363S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.845 218028 chr3 50645431 50645431 A G rs201054842 CISH Synonymous SNV N128N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.128 218029 chr6 170058401 170058401 C G rs748987381 WDR27 Nonsynonymous SNV S267T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.421 218030 chr3 183956367 183956367 A T rs371555847 VWA5B2 Synonymous SNV T418T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 218031 chr17 47293911 47293911 G A ABI3 Nonsynonymous SNV A46T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 218032 chr17 47376177 47376177 C T rs61749023 ZNF652 Synonymous SNV V473V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.84 218033 chr12 76444374 76444374 C T rs371894134 NAP1L1 Synonymous SNV E269E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.04 218034 chr6 26017586 26017586 C T rs764013446 HIST1H1A Synonymous SNV K125K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.361 218035 chr11 124440468 124440468 C T rs757278715 OR8A1 Synonymous SNV I151I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.73 218036 chr3 57817115 57817115 T C rs763926233 SLMAP Synonymous SNV Y68Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.151 218037 chr20 17475279 17475279 C A rs767136257 BFSP1 Nonsynonymous SNV V355L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 218038 chr12 93870764 93870764 G A rs757723203 MRPL42 Synonymous SNV T35T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 218039 chr3 66463388 66463388 C T rs138265012 LRIG1 Nonsynonymous SNV G233E 0.002 0 0 0 2 0 0 0 0 0 0 0 33 218040 chr12 96370388 96370388 C T rs148214250 HAL Nonsynonymous SNV R376H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 218041 chr3 77657046 77657046 A G ROBO2 Synonymous SNV P1078P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 218042 chr12 109689895 109689895 G A rs140927923 ACACB Synonymous SNV L1945L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.14 218043 chr20 25462609 25462609 G A rs148348160 NINL Nonsynonymous SNV P602L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 218044 chr3 33633894 33633894 T C rs750153378 CLASP2 Synonymous SNV Q454Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.305 218045 chr20 3171454 3171454 C T rs376415173 DDRGK1 Nonsynonymous SNV D264N 0.002 0 0 0 2 0 0 0 0 0 0 0 35 218046 chr20 34797746 34797746 G A EPB41L1 Nonsynonymous SNV D595N 0.002 0 0 0 2 0 0 0 0 0 0 0 19.12 218047 chr6 46657957 46657957 A G rs150939532 TDRD6 Nonsynonymous SNV I698V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 218048 chr6 46663623 46663623 A G rs769478960 TDRD6 Nonsynonymous SNV S2038G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 218049 chr17 7106789 7106789 G A rs370864740 DLG4 Synonymous SNV P93P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign 8.597 218050 chr17 7163702 7163702 C A rs150733809 CLDN7 Nonsynonymous SNV E209D 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 13.15 218051 chr6 57254999 57254999 C T rs867661295 MIR548U 0 0 0.003 0 0 0 0 1 0 0 0 0 5.903 218052 chr6 66115139 66115139 A G EYS Synonymous SNV N328N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.095 218053 chr12 16185502 16185502 G A DERA Nonsynonymous SNV G179R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 218054 chr4 144618015 144618015 C A rs370903425 FREM3 Nonsynonymous SNV D1272Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 218055 chr6 7580404 7580404 C G DSP Nonsynonymous SNV I1327M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 218056 chr20 49366879 49366879 C T rs41283606 PARD6B Synonymous SNV L325L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.774 218057 chr4 151520264 151520264 G A rs148699393 LRBA Nonsynonymous SNV R1981C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 218058 chr20 56179653 56179653 C T rs6099680 ZBP1 Synonymous SNV G347G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.501 218059 chr13 25479966 25479966 T C rs587783408 CENPJ Nonsynonymous SNV D737G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 218060 chr6 90504463 90504463 C G rs138372807 MDN1 Nonsynonymous SNV E129D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 218061 chr12 39726734 39726734 C G rs781301465 KIF21A Nonsynonymous SNV R852T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 218062 chr4 159559229 159559229 T G rs779553808 RXFP1 Synonymous SNV S314S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 218063 chr13 32893271 32893271 A G rs4987046 BRCA2 Nonsynonymous SNV Y42C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.506 218064 chr16 23388540 23388540 G T rs1799980 SCNN1B Nonsynonymous SNV G442V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.499 218065 chr3 69230086 69230086 A G FRMD4B Nonsynonymous SNV C939R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 218066 chr20 56138118 56138130 GCTGACGCTCATC - PCK1 L216Pfs*47 0 0 0 2 0 0 0.005 0 0 0 0 0 218067 chr17 79094836 79094836 G A rs200848510 AATK Nonsynonymous SNV A864V 0 0 0 2 0 0 0.005 0 0 0 0 0 2.212 218068 chr13 75900500 75900500 A G rs1048431661 TBC1D4 Synonymous SNV A622A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 218069 chr16 55739127 55739127 G A SLC6A2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.471 218070 chr12 52789873 52789873 C T rs920190793 KRT82 Synonymous SNV Q404Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 218071 chr7 100887298 100887298 C T FIS1 Synonymous SNV V56V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 218072 chr17 8197913 8197913 C T rs146446124 SLC25A35 Synonymous SNV L71L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.551 218073 chr16 57449756 57449756 A G rs765518571 CCL17 Nonsynonymous SNV S90G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.399 218074 chr17 9549214 9549214 C T USP43 Nonsynonymous SNV L89F 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 218075 chr7 107602035 107602035 G A rs751175194 LAMB1 Synonymous SNV P648P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.11 218076 chr16 57719571 57719571 G T ADGRG3 Nonsynonymous SNV G305W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 218077 chr4 2831784 2831784 G A rs143129053 SH3BP2 Nonsynonymous SNV R384Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 21.3 218078 chr18 28935039 28935039 C T rs200560952 DSG1 Synonymous SNV G960G 0 0 0 2 0 0 0.005 0 0 0 0 0 3.764 218079 chr7 127222523 127222523 C T rs542156321 GCC1 Nonsynonymous SNV G625S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.212 218080 chr13 113773178 113773178 G A rs533501978 F7 Synonymous SNV T335T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.908 218081 chr4 40440835 40440835 C T rs766644209 RBM47 Nonsynonymous SNV V26M 0.003 0 0 0 3 0 0 0 0 0 0 0 14.87 218082 chr16 80667078 80667078 C T CDYL2 Synonymous SNV L224L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.5 218083 chr18 40850386 40850386 T C rs778251943 SYT4 Nonsynonymous SNV T400A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 218084 chr16 81390486 81390486 A G rs200749953 GAN Nonsynonymous SNV I244V 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.792 218085 chr21 43963613 43963613 G T SLC37A1 Nonsynonymous SNV A211S 0.002 0 0 0 2 0 0 0 0 0 0 0 31 218086 chr14 21215833 21215833 G C rs116985083 EDDM3A Nonsynonymous SNV E32Q 0.001 0 0.01 0 1 0 0 3 0 0 0 0 12.41 218087 chr3 4508679 4508679 C T rs762094231 SUMF1 Nonsynonymous SNV R84Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 16.03 218088 chr7 138967938 138967938 C T UBN2 Nonsynonymous SNV H763Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 218089 chr12 68720669 68720669 G C rs556289246 MDM1 Nonsynonymous SNV P89R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 218090 chr7 142569697 142569697 G A rs368789088 TRPV6 Synonymous SNV Y687Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.432 218091 chr4 6303497 6303497 G A rs1055026501 WFS1 Nonsynonymous SNV V659I 0.002 0 0 0 2 0 0 0 0 0 0 0 24 218092 chr21 47704383 47704383 C T rs998311006 MCM3AP Nonsynonymous SNV G273E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.592 218093 chr21 47704679 47704679 C A rs190955320 MCM3AP Synonymous SNV G174G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.72 218094 chr7 1481877 1481877 C T rs781413480 MICALL2 Synonymous SNV P554P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.22 218095 chr7 148463653 148463653 G A CUL1 Nonsynonymous SNV A264T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 218096 chr12 88547201 88547201 T A TMTC3 Nonsynonymous SNV L19H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 218097 chr14 24587663 24587663 G A rs192332230 DCAF11 Nonsynonymous SNV R215H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 218098 chr12 94692478 94692478 T A rs115408156 PLXNC1 Nonsynonymous SNV F1382Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 22.7 218099 chr4 1807502 1807502 C T rs370408732 FGFR3 Synonymous SNV Y445Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.746 218100 chr18 641445 641445 C T rs568120280 CLUL1 Synonymous SNV T371T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 218101 chr4 184367335 184367335 A G CDKN2AIP Synonymous SNV E166E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.135 218102 chr1 152084339 152084339 - CTGCTCGCGCTTCAGCCG rs779629229 TCHH Q451_E452insRLKREQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 218103 chr1 155316162 155316162 G - rs754808947 MIR555 0.002 0 0 1 2 0 0.003 0 0 0 0 0 218104 chr12 111052219 111052219 G C rs76843552 TCTN1 Star tloss M1? 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 4.565 218105 chr14 55429264 55429264 T C rs760883001 WDHD1 Nonsynonymous SNV N762D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 218106 chr12 111066669 111066669 A G rs199584658 TCTN1 Synonymous SNV E190E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.45 218107 chr12 111080097 111080097 A G rs75714509 TCTN1 Nonsynonymous SNV I412V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 0.403 218108 chr12 111099002 111099002 C T rs140708722 HVCN1 Nonsynonymous SNV M71I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.015 218109 chr12 111099003 111099003 A G rs76006664 HVCN1 Nonsynonymous SNV M71T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 218110 chr12 111099104 111099104 T C rs144694223 HVCN1 Synonymous SNV P37P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.138 218111 chr14 56115580 56115580 A T KTN1 Nonsynonymous SNV N787Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 218112 chr7 2689577 2689577 G A rs149229320 TTYH3 Nonsynonymous SNV A276T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 218113 chr7 2698055 2698055 G A rs115633013 TTYH3 Synonymous SNV A462A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 218114 chr14 59931064 59931064 C T rs371387408 GPR135 Nonsynonymous SNV C294Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 218115 chr14 59942605 59942605 G A L3HYPDH Synonymous SNV F136F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.56 218116 chr12 116440904 116440904 C T rs763261961 MED13L Nonsynonymous SNV V825I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 218117 chr4 89052998 89052998 G A rs199473672 ABCG2 Nonsynonymous SNV P112L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.77 218118 chr19 11346278 11346278 C T rs73506659 DOCK6 Synonymous SNV P850P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.23 218119 chr7 35414846 35414846 C G rs150218096 LOC401324 0 0 0.003 0 0 0 0 1 0 0 0 0 19.03 218120 chr19 1231043 1231043 G A rs753413344 CBARP Nonsynonymous SNV S404L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.816 218121 chr17 5461939 5461939 G A rs201734090 NLRP1 Nonsynonymous SNV R693W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 218122 chr19 12461221 12461221 C T rs748194603 ZNF442 Nonsynonymous SNV R324Q 0 0 0 2 0 0 0.005 0 0 0 0 0 13.81 218123 chr19 12812635 12812635 G A rs542037928 TNPO2 Synonymous SNV N814N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.429 218124 chr14 75150229 75150229 T C rs368285382 AREL1 Nonsynonymous SNV Y84C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 218125 chr7 44148915 44148915 G A rs750519777 AEBP1 Synonymous SNV E375E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.186 218126 chr7 44579272 44579272 G A rs139036479 NPC1L1 Nonsynonymous SNV R242C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.408 218127 chr22 40037028 40037028 C T rs371381957 CACNA1I Synonymous SNV D299D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.38 218128 chr19 14755002 14755002 A G rs141371829 ADGRE3 Nonsynonymous SNV L197P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.212 218129 chr5 118468958 118468958 C T DMXL1 Synonymous SNV L483L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.21 218130 chr4 676626 676626 C T rs749414104 SLC49A3 Nonsynonymous SNV R284H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.502 218131 chr7 5410013 5410013 C G rs200279443 TNRC18 Nonsynonymous SNV E1404D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 7.308 218132 chr5 131714090 131714090 C T rs150705788 SLC22A5 Synonymous SNV D138D 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18 218133 chr5 134670774 134670774 G A rs773338511 MACROH2A1 Synonymous SNV Y336Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.573 218134 chr22 50315306 50315306 C T rs148619787 CRELD2 Synonymous SNV D163D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.82 218135 chr14 94004393 94004393 G A UNC79 Nonsynonymous SNV G394D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.93 218136 chr13 23910815 23910815 A G rs148544893 SACS Synonymous SNV F2253F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.292 218137 chr13 25274941 25274941 A G rs773336483 ATP12A Nonsynonymous SNV I594V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 218138 chr5 138717654 138717654 C A SLC23A1 Nonsynonymous SNV V79F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 218139 chr7 75176260 75176260 T C HIP1 Nonsynonymous SNV R846G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 218140 chr7 75864471 75864471 G A SRRM3 Synonymous SNV S29S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.019 218141 chr17 17761166 17761166 A G rs781540091 TOM1L2 Nonsynonymous SNV F280L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 218142 chr22 51160477 51160477 C G rs201973139 SHANK3 Nonsynonymous SNV L1467V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.346 218143 chr4 85645623 85645623 T C rs766497180 WDFY3 Nonsynonymous SNV Q2466R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.53 218144 chr19 17950338 17950338 G A rs201132330 JAK3 Synonymous SNV H463H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.042 218145 chr7 87144710 87144710 A G rs201819590 ABCB1 Nonsynonymous SNV V1040A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 218146 chr5 140255602 140255602 T C rs371785405 PCDHA12 Nonsynonymous SNV I182T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.912 218147 chr13 43462590 43462590 G A rs769883623 EPSTI1 Synonymous SNV L343L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.018 218148 chr13 46541724 46541724 C G rs146239696 ZC3H13 Nonsynonymous SNV L1412F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.16 218149 chr7 97862941 97862941 G T rs775182881 TECPR1 Synonymous SNV T488T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.892 218150 chr7 98988681 98988681 C T rs751741478 ARPC1B Synonymous SNV H222H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 218151 chr15 31294159 31294159 C T rs61734295 TRPM1 Nonsynonymous SNV V1599M 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Benign 8.962 218152 chr2 128183696 128183696 G C rs777364878 PROC Nonsynonymous SNV E191Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.152 218153 chr19 33353029 33353029 A G SLC7A9 Synonymous SNV D233D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.186 218154 chr8 120818530 120818530 G A rs370737151 TAF2 Synonymous SNV H137H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.947 218155 chr15 41794023 41794023 T C rs922414790 ITPKA Synonymous SNV C259C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.267 218156 chr5 128796815 128796815 C G rs192852831 ADAMTS19 Nonsynonymous SNV R38G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 218157 chr13 110960440 110960440 C T rs774171520 COL4A2 Synonymous SNV T23T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 218158 chr19 35617605 35617605 C A rs746005371 LGI4 Nonsynonymous SNV G290C 0 0 0 3 0 0 0.008 0 0 0 0 0 27.9 218159 chr4 25014087 25014087 C T rs146993877 LGI2 Synonymous SNV S230S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 218160 chr8 128099058 128099058 G A rs554494654 PRNCR1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 218161 chr15 42568597 42568597 C T GANC Synonymous SNV I27I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.82 218162 chr2 152511850 152511850 C A NEB Nonsynonymous SNV K2247N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.02 218163 chr15 44166179 44166179 G A rs760564859 FRMD5 Synonymous SNV P539P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.808 218164 chr8 133152340 133152340 G A rs35538317 KCNQ3 Synonymous SNV A397A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.66 218165 chr5 153144131 153144131 C T rs370019745 GRIA1 Nonsynonymous SNV A574V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 218166 chr8 134125759 134125759 G A rs144050001 TG Nonsynonymous SNV V2556I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.515 218167 chr15 49325237 49325237 G C SECISBP2L Nonsynonymous SNV Q197E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 218168 chr8 135614753 135614753 G C rs202211030 ZFAT Synonymous SNV L341L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.323 218169 chr8 140922408 140922408 C T rs770440531 TRAPPC9 Nonsynonymous SNV G974S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 218170 chr5 159821808 159821808 A T rs151102099 ZBED8 Nonsynonymous SNV H230Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 218171 chr15 51828946 51828946 C T rs148694560 DMXL2 Synonymous SNV T577T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 6.982 218172 chr5 139947519 139947519 C T rs368136432 SLC35A4 Synonymous SNV L255L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.776 218173 chr2 167168131 167168131 C T rs779344629 SCN9A Nonsynonymous SNV A46T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 17.7 218174 chr5 140306552 140306552 A G rs782296182 PCDHAC1 Synonymous SNV S25S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 218175 chr5 140530510 140530510 C T rs201139737 PCDHB6 Synonymous SNV T224T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.017 218176 chr5 140625181 140625181 G A rs371573313 PCDHB15 Nonsynonymous SNV R12K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 218177 chr5 140730487 140730487 C - rs764101793 PCDHGB1 S220Rfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 218178 chr15 60792153 60792153 T C rs200511374 RORA Nonsynonymous SNV I394V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.01 218179 chr5 1414819 1414819 G A rs8179027 SLC6A3 Synonymous SNV D381D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.269 218180 chr2 170068713 170068713 G A rs34834388 LRP2 Synonymous SNV A2015A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.277 218181 chr2 170094763 170094763 G C rs35297090 LRP2 Synonymous SNV A1448A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.704 218182 chr15 63966604 63966604 T C HERC1 Nonsynonymous SNV M2595V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.742 218183 chr15 64592522 64592522 T C rs7163558 CSNK1G1 Synonymous SNV R59R 0.001 0 0.014 0 1 0 0 4 0 0 0 0 5.905 218184 chr15 65157901 65157901 G A rs116174314 PLEKHO2 Synonymous SNV K379K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 218185 chr8 144919979 144919979 C T rs372367688 MIR6845 0 0 0.003 0 0 0 0 1 0 0 0 0 4.685 218186 chr2 171917649 171917649 T C rs139603073 TLK1 Synonymous SNV Q20Q 0.003 0 0 0 3 0 0 0 0 0 0 0 5.378 218187 chr1 880470 880470 C G rs763449605 NOC2L Nonsynonymous SNV E704Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.075 218188 chr5 148407532 148407532 C A rs760899669 SH3TC2 Nonsynonymous SNV G588V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.076 218189 chr19 41930425 41930425 C T BCKDHA Nonsynonymous SNV P417L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.3 218190 chr1 909410 909410 G - rs776377656 PLEKHN1 Q509Hfs*23 0 0 0 1 0 0 0.003 0 0 0 0 0 218191 chr1 909411 909411 C A rs771451427 PLEKHN1 Nonsynonymous SNV P510T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 218192 chr1 914828 914828 G T rs375378975 PERM1 Nonsynonymous SNV P528T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 218193 chr2 179498213 179498213 C T rs370216450 TTN Synonymous SNV A5226A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.21 218194 chr14 31539065 31539065 A G rs776138091 AP4S1 Nonsynonymous SNV Y52C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 218195 chr8 1876707 1876707 G A rs61752020 ARHGEF10 Nonsynonymous SNV V900I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Likely benign 0.039 218196 chr14 39769143 39769143 A G rs10162564 MIA2 Nonsynonymous SNV K170E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.8 218197 chr2 186655849 186655849 C T rs766741003 FSIP2 Nonsynonymous SNV T1329I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 218198 chr1 3700584 3700584 - GCTTCTTCT rs779235885 LRRC47 K428_R429insQKK 0 0 0 1 0 0 0.003 0 0 0 0 0 218199 chr1 228511234 228511234 C T rs377607347 OBSCN Synonymous SNV D5193D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.8 218200 chr14 51448626 51448626 C T rs779937272 TRIM9 Nonsynonymous SNV R600H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 218201 chr1 231411221 231411221 C T rs781573361 GNPAT Synonymous SNV L577L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.07 218202 chr1 9770571 9770571 G A rs143116020 PIK3CD Nonsynonymous SNV V20I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.72 218203 chr5 171488199 171488199 C T rs201995192 STK10 Nonsynonymous SNV R719Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24 218204 chr15 86284493 86284493 G A rs780450433 AKAP13 Nonsynonymous SNV E1230K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 218205 chr5 56111575 56111575 C T rs749840532 MAP3K1 Nonsynonymous SNV R59W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 218206 chr8 35583725 35583725 A G rs201829811 UNC5D Synonymous SNV T448T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.783 218207 chr8 37688335 37688335 G A rs199973228 ADGRA2 Nonsynonymous SNV D276N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 218208 chr2 20451373 20451373 A C PUM2 Nonsynonymous SNV I977M 0.002 0 0 0 2 0 0 0 0 0 0 0 9.403 218209 chr5 56207204 56207204 A - rs575788115 SETD9 R103Dfs*29 0.003 0 0 0 3 0 0 0 0 0 0 0 218210 chr19 45867281 45867281 G A rs369477332 ERCC2 Synonymous SNV H280H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 218211 chr8 55539543 55539543 A T rs148296108 RP1 Nonsynonymous SNV H1034L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 218212 chr8 55540939 55540939 G C RP1 Nonsynonymous SNV E1499D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 218213 chr8 55542247 55542247 T G rs140137224 RP1 Nonsynonymous SNV F1935L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.1 218214 chr8 61778159 61778159 G A rs148517660 CHD7 Synonymous SNV P838P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.821 218215 chr19 47287779 47287779 G T SLC1A5 Nonsynonymous SNV R202S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 218216 chr5 71756212 71756212 C T ZNF366 Nonsynonymous SNV G371D 0.003 0 0 0 3 0 0 0 0 0 0 0 27.3 218217 chr2 21225354 21225354 T C rs72654423 APOB Nonsynonymous SNV I4314V 0.003 0.005 0.007 0 3 2 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.007 218218 chr5 74016999 74016999 A G rs576145664 HEXB Synonymous SNV X557X 0.003 0 0 0 3 0 0 0 0 0 0 0 6.146 218219 chr5 118556172 118556172 T C rs201102615 DMXL1 Synonymous SNV N2479N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.023 218220 chr14 75150210 75150210 G A AREL1 Synonymous SNV F90F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.64 218221 chr8 81153688 81153688 A G MIR5708 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 218222 chr1 248031291 248031291 C T TRIM58 Nonsynonymous SNV A266V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.016 218223 chr19 49142643 49142643 C T rs537702330 CA11 Synonymous SNV Q238Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.49 218224 chr2 220333406 220333406 C T rs776934091 SPEG Synonymous SNV F1083F 0.002 0 0 0 2 0 0 0 0 0 0 0 18.1 218225 chr16 836894 836894 G A rs376392312 RPUSD1 Nonsynonymous SNV S114L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.86 218226 chr14 90651134 90651134 C T rs139412063 KCNK13 Synonymous SNV D338D 0.003 0 0 0 3 0 0 0 0 0 0 0 5.456 218227 chr14 90745442 90745442 T C rs141933992 NRDE2 Synonymous SNV V1111V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.256 218228 chr5 137243577 137243577 T C rs187385180 PKD2L2 Synonymous SNV I352I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.551 218229 chr2 222365844 222365844 G A rs973610366 EPHA4 Nonsynonymous SNV A240V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.7 218230 chr9 100774720 100774722 TGA - rs201760343 ANP32B D219del 0 0 0.003 0 0 0 0 1 0 0 0 0 218231 chr1 24989688 24989688 A G rs202171183 SRRM1 Nonsynonymous SNV K465R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 21.8 218232 chr9 107593318 107593318 C T rs199655961 ABCA1 Nonsynonymous SNV A594T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.06 218233 chr2 228883311 228883311 T A rs941454680 SPHKAP Synonymous SNV P753P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.039 218234 chr9 109688997 109688997 C G ZNF462 Nonsynonymous SNV P935R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 218235 chr2 230678650 230678650 G A rs142882915 TRIP12 Nonsynonymous SNV T296M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 218236 chr6 105244617 105244617 C T rs761641588 HACE1 Synonymous SNV E146E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.62 218237 chr5 5463397 5463397 A G rs61736166 ICE1 Nonsynonymous SNV E1317G 0.003 0 0 0 3 0 0 0 0 0 0 0 3.743 218238 chr1 28880162 28880162 A T rs768527760 TRNAU1AP Nonsynonymous SNV Y13F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 218239 chr2 233710448 233710448 T C GIGYF2 Synonymous SNV S1098S 0.003 0 0 0 3 0 0 0 0 0 0 0 1.347 218240 chr16 3141560 3141560 C T rs72772561 ZSCAN10 Synonymous SNV A119A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 Benign 12.89 218241 chr2 233899326 233899326 C T NEU2 Synonymous SNV L234L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.79 218242 chr6 111283696 111283696 G A rs368121389 GTF3C6 Nonsynonymous SNV E117K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 218243 chr2 234372892 234372892 C T rs771282230 DGKD Nonsynonymous SNV P1046L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 218244 chr9 116327629 116327629 C T rs566625576 RGS3 Nonsynonymous SNV R15W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 218245 chr5 65372741 65372741 A G rs1011750610 ERBIN Synonymous SNV A1255A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 218246 chr9 116859969 116859969 A G KIF12 Nonsynonymous SNV F5S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 218247 chr6 11193877 11193877 A G NEDD9 Nonsynonymous SNV S21P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.689 218248 chr9 117396120 117396120 G T rs35134692 TMEM268 Nonsynonymous SNV V184L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 218249 chr5 70806573 70806573 G A rs200107038 BDP1 Synonymous SNV K1218K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.79 218250 chr18 3253275 3253275 C G rs756265961 MYL12A Synonymous SNV T10T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 218251 chr9 119106912 119106912 C T rs142033727 PAPPA Synonymous SNV H1234H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.529 218252 chr6 125366494 125366494 T G RNF217 Nonsynonymous SNV D340E 0.002 0 0 0 2 0 0 0 0 0 0 0 19.74 218253 chr1 40928780 40928780 G A rs112085724 ZFP69B Nonsynonymous SNV S375N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 218254 chr14 105850798 105850798 C T rs201652289 PACS2 Nonsynonymous SNV A630V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 218255 chr9 125562705 125562705 A G rs144618703 OR1K1 Nonsynonymous SNV M102V 0.003 0 0.007 0 4 0 0 2 0 0 0 0 21.9 218256 chr9 125673437 125673437 C A rs371830027 ZBTB6 Nonsynonymous SNV R305S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.6 218257 chr5 78322251 78322251 A G rs903214720 DMGDH Nonsynonymous SNV L729S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.92 218258 chr18 13114190 13114190 T C rs377361096 CEP192 Nonsynonymous SNV I2410T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.118 218259 chr9 128001463 128001463 A G rs138181123 HSPA5 Synonymous SNV T251T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.139 218260 chr6 136560687 136560687 T G rs753103406 MTFR2 Synonymous SNV S262S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.53 218261 chr2 242617998 242617998 G A DTYMK Nonsynonymous SNV L90F 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 218262 chr2 242795126 242795126 G A rs56234260 PDCD1 Nonsynonymous SNV P28L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.47 218263 chr9 130578442 130578442 C T LOC102723566 0 0 0.003 0 0 0 0 1 0 0 0 0 6.328 218264 chr1 45984684 45984684 G C rs11544934 PRDX1 Nonsynonymous SNV P11R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 218265 chr1 47279898 47279898 C T rs45446505 CYP4B1 Nonsynonymous SNV R102W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 26 218266 chr15 42028696 42028696 T C MGA Nonsynonymous SNV S1412P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 218267 chr15 42041966 42041966 C G MGA Nonsynonymous SNV T1845S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.978 218268 chr9 133907539 133907539 G A rs2275133 LAMC3 Synonymous SNV V262V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.44 218269 chr5 96090425 96090425 T C rs140928951 CAST Nonsynonymous SNV Y427H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 25.4 218270 chr15 42985477 42985477 A G rs534725679 STARD9 Nonsynonymous SNV I3901V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 218271 chr6 157099480 157099480 C T ARID1B Synonymous SNV S139S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.17 218272 chr6 157100332 157100332 C T rs747947340 ARID1B Synonymous SNV L423L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.37 218273 chr1 57171872 57171872 G A rs776442357 PRKAA2 Synonymous SNV L467L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.93 218274 chr1 57351736 57351736 C T rs778909267 C8A Nonsynonymous SNV A331V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 218275 chr9 139259658 139259658 C T rs756953515 CARD9 Nonsynonymous SNV G457S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 3.205 218276 chr9 139402764 139402764 C T rs758471372 NOTCH1 Nonsynonymous SNV R1082H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 23 218277 chr6 160328919 160328919 G A rs140222197 MAS1 Nonsynonymous SNV R311H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.047 218278 chr18 61228355 61228355 C T rs367909045 SERPINB12 Nonsynonymous SNV T161M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 218279 chr6 117248413 117248413 C T rs377285182 RFX6 Synonymous SNV Y703Y 0.002 0 0 0 2 0 0 0 0 0 0 0 6.329 218280 chr16 54967615 54967615 G A rs758055739 IRX5 Nonsynonymous SNV G427R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 218281 chr18 61232754 61232754 A G SERPINB12 Nonsynonymous SNV Q261R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 218282 chr6 119345275 119345275 C T rs201010751 FAM184A Nonsynonymous SNV R168K 0.002 0 0 0 2 0 0 0 0 0 0 0 5.532 218283 chr9 139912122 139912122 T C rs1029787250 ABCA2 Nonsynonymous SNV N745S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.2 218284 chr18 64197130 64197130 G T rs372093174 CDH19 Nonsynonymous SNV F470L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 218285 chr18 64211445 64211445 T G rs146495985 CDH19 Nonsynonymous SNV H326P 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 4.104 218286 chr9 140070188 140070188 C T rs41317010 ANAPC2 Synonymous SNV A664A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.72 218287 chr16 57596370 57596370 C T rs765140417 ADGRG5 Nonsynonymous SNV R47C 0.003 0 0 0 4 0 0 0 0 0 0 0 18.97 218288 chr2 55093974 55093974 A G rs1039279260 EML6 Synonymous SNV K668K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.903 218289 chr15 62456383 62456383 G A rs1055427702 C2CD4B Synonymous SNV L267L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.691 218290 chr16 57998443 57998443 G A rs773046751 CNGB1 Synonymous SNV P55P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.692 218291 chr15 63889714 63889714 C T rs138708498 FBXL22 Synonymous SNV D41D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.03 218292 chr16 65038690 65038690 C T rs527451513 CDH11 Nonsynonymous SNV R28Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 218293 chr2 61512030 61512030 C T rs372618825 USP34 Synonymous SNV T1604T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 218294 chr16 67470852 67470852 C T rs45578842 HSD11B2 Synonymous SNV D388D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.773 218295 chr1 86249217 86249217 C A rs747124001 COL24A1 Nonsynonymous SNV V716F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.52 218296 chr9 17135290 17135290 A G rs765119327 CNTLN Nonsynonymous SNV H76R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.227 218297 chr6 137191089 137191089 G A rs191969418 PEX7 Nonsynonymous SNV R232Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 218298 chr15 65677430 65677430 C G rs750374013 IGDCC4 Synonymous SNV G1068G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.499 218299 chr19 804963 804963 G A rs139864698 MIR4745 0.002 0 0 0 2 0 0 0 0 0 0 0 0.02 218300 chr19 681655 681655 C G rs147593429 FSTL3 Nonsynonymous SNV P247A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.075 218301 chr9 32544025 32544025 C T rs200690745 TOPORS Synonymous SNV S101S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 218302 chr15 72105900 72105900 A C rs375975199 NR2E3 Nonsynonymous SNV I307L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 218303 chr9 33342848 33342848 A G rs766307991 NFX1 Synonymous SNV Q741Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.148 218304 chr15 73996604 73996604 G A rs150186392 CD276 Nonsynonymous SNV R169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 218305 chr2 75100408 75100408 C T rs138918973 HK2 Synonymous SNV F167F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.05 218306 chr2 79385868 79385868 G A rs778024360 REG3A Nonsynonymous SNV S35F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 218307 chr19 1555964 1555964 G T rs61749995 MEX3D Synonymous SNV P518P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.682 218308 chr9 4625343 4625343 G - rs768669435 SPATA6L P127Hfs*22 0 0 0.003 1 0 0 0.003 1 0 0 0 0 218309 chr9 6256144 6256144 C G rs16924241 IL33 Nonsynonymous SNV I137M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 218310 chr1 113159464 113159464 T A rs114199731 ST7L Nonsynonymous SNV T87S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 26.3 218311 chr1 113243096 113243096 G T rs116614538 MOV10 Synonymous SNV L993L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 9.713 218312 chr9 79814886 79814886 A G rs140518771 VPS13A Synonymous SNV Q42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.437 218313 chr6 167708121 167708121 G C rs762508277 UNC93A Nonsynonymous SNV K68N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 218314 chr20 17597394 17597394 C T rs200224134 RRBP1 Nonsynonymous SNV E1284K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.82 218315 chr9 90401704 90401704 G T rs144526721 CTSL3P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.464 218316 chr6 41909325 41909325 C G rs150526537 CCND3 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.711 218317 chr16 88783071 88783071 G A rs35686439 PIEZO1 Synonymous SNV S2274S 0.003 0 0.003 0 3 0 0 1 1 0 0 0 Benign 12.41 218318 chr16 88787829 88787829 G A rs201769196 PIEZO1 Nonsynonymous SNV L1805F 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 27.3 218319 chr3 108288411 108288411 C T rs375108755 CIP2A Nonsynonymous SNV R313H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 218320 chr9 96320205 96320205 C T rs780304802 FAM120A Nonsynonymous SNV P860S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.154 218321 chr9 99581344 99581344 G A rs202014406 ZNF782 Nonsynonymous SNV R297C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 218322 chr1 150917622 150917622 - T rs753428185 SETDB1 Frameshift insertion G394Wfs*18 0.002 0 0 1 2 0 0.003 0 0 0 0 0 218323 chr16 89704290 89704290 G A rs199564877 DPEP1 Nonsynonymous SNV A326T 0.002 0 0 0 2 0 0 0 0 0 0 0 24 218324 chr1 151551277 151551277 G A TUFT1 Nonsynonymous SNV R275Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 218325 chr6 26466202 26466202 G A rs145303049 BTN2A1 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 23.1 218326 chr17 263328 263328 C T rs781970106 C17orf97 Nonsynonymous SNV L232F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 218327 chrX 105279341 105279341 C T rs368597333 SERPINA7 Nonsynonymous SNV E220K 0 0 0.01 0 0 0 0 3 0 0 1 0 8.746 218328 chrX 111698566 111698566 A G rs138770250 RTL4 Nonsynonymous SNV N204D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 218329 chr6 49425764 49425764 C T rs145682249 MMUT Synonymous SNV Q131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.311 218330 chr1 104076408 104076408 C T rs978321555 RNPC3 Synonymous SNV V96V 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.71 218331 chrX 12739059 12739059 C G rs41297281 FRMPD4 Synonymous SNV S1459S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.193 218332 chr6 34499389 34499389 C A PACSIN1 Stop gain Y350X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 218333 chr6 54804870 54804870 T C FAM83B Synonymous SNV N367N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 218334 chr6 56481283 56481283 T C rs374344068 DST Nonsynonymous SNV I2328V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.519 218335 chr16 336474 336474 G T rs200763828 PDIA2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 218336 chr16 1129052 1129052 A C rs775414802 SSTR5 Nonsynonymous SNV I62L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 218337 chrX 153035323 153035325 GAG - rs782415380 PLXNB3 E521del 0 0 0.003 0 0 0 0 1 0 0 0 0 218338 chr17 4646655 4646655 G A rs35005394 ZMYND15 Nonsynonymous SNV R401H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.1 218339 chr1 156883735 156883735 A - PEAR1 G937Afs*10 0.001 0 0 1 1 0 0.003 0 0 0 0 0 218340 chrX 153187092 153187092 G A ARHGAP4 Nonsynonymous SNV R80C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 218341 chr1 157805673 157805673 C A rs142870154 CD5L Stop gain E110X 0.003 0 0 2 3 0 0.005 0 0 0 0 0 32 218342 chr17 5013095 5013095 G A rs73976309 ZNF232 Nonsynonymous SNV S31L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 218343 chr17 5329575 5329575 A G rs77813450 RPAIN Nonsynonymous SNV S149G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.587 218344 chr16 2027764 2027764 G A rs148569672 TBL3 Nonsynonymous SNV A641T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.68 218345 chr3 12977131 12977131 G A rs759160338 IQSEC1 Nonsynonymous SNV T462M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.1 218346 chr6 46111212 46111212 G A ENPP4 Synonymous SNV Q399Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.77 218347 chrX 32361266 32361266 A G rs143159113 DMD Synonymous SNV D567D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.095 218348 chr6 99797215 99797215 G T FAXC Nonsynonymous SNV P12T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.65 218349 chr1 118441786 118441786 T C GDAP2 Nonsynonymous SNV E230G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 218350 chrX 35969350 35969350 A G CFAP47 Synonymous SNV E253E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 218351 chr17 7132743 7132743 T C rs761148318 DVL2 Synonymous SNV T257T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 218352 chr1 159683752 159683752 C A rs867962019 CRP Stop gain E80X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 218353 chrX 46359331 46359331 T G rs377222456 ZNF674 Nonsynonymous SNV K565Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.5 218354 chr3 130452743 130452743 C T rs139640851 PIK3R4 Nonsynonymous SNV E367K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 218355 chr1 120510113 120510113 G T rs141935585 NOTCH2 Nonsynonymous SNV Q466K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 20.3 218356 chr17 7412292 7412292 G A rs142301612 POLR2A Synonymous SNV T1165T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 218357 chr1 161183498 161183498 C G NDUFS2 Nonsynonymous SNV I424M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.6 218358 chr6 51524432 51524432 C G rs754598286 PKHD1 Nonsynonymous SNV V3498L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.76 218359 chr16 3645613 3645613 C T rs200807331 SLX4 Nonsynonymous SNV R669H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Uncertain significance 5.837 218360 chr1 162551097 162551097 C T rs769959092 UAP1 Nonsynonymous SNV R228W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 218361 chr3 14209775 14209775 G A rs770955020 XPC Nonsynonymous SNV A173V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.574 218362 chr20 57569285 57569285 G T rs758741869 NELFCD Stop gain E568X 0 0 0 2 0 0 0.005 0 0 0 0 0 40 218363 chrX 9863514 9863514 G T SHROOM2 Nonsynonymous SNV Q522H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.278 218364 chr16 9030452 9030452 G A rs113545079 USP7 Nonsynonymous SNV L7F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.05 218365 chr6 70944598 70944598 G A rs750991236 COL9A1 Nonsynonymous SNV R477W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 218366 chr17 10267755 10267755 T C rs8074065 MYH13 Synonymous SNV P31P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.018 218367 chr1 172422244 172422244 G A rs41263740 C1orf105 Nonsynonymous SNV R28Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.103 218368 chr10 101162403 101162403 T C rs760981253 GOT1 Nonsynonymous SNV K346E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 218369 chr17 11795183 11795183 A G DNAH9 Nonsynonymous SNV I46M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 218370 chr17 15207460 15207460 G A rs937391212 TEKT3 Synonymous SNV N422N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.008 218371 chr17 18159888 18159888 G A FLII Synonymous SNV N55N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 218372 chr3 169802576 169802576 T C GPR160 Synonymous SNV Y272Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 218373 chr6 17624936 17624936 T G NUP153 Nonsynonymous SNV I1302L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.968 218374 chr6 17637962 17637962 G T NUP153 Nonsynonymous SNV P587H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 218375 chr10 11653513 11653517 CGGCG - rs563848900 LOC107984208 0 0 0.02 0 0 0 0 6 0 0 0 0 218376 chr7 107312606 107312606 G A rs532132864 SLC26A4 Nonsynonymous SNV A110T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23 218377 chr1 197111877 197111877 G C rs140410863 ASPM Nonsynonymous SNV A502G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.19 218378 chr3 182871710 182871710 C T rs763641775 LAMP3 Synonymous SNV S173S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.635 218379 chr16 29974841 29974841 G C TMEM219 Nonsynonymous SNV D96H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 218380 chr16 30197993 30197993 G A rs141844867 CORO1A Synonymous SNV P91P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 218381 chr1 201104877 201104877 G A rs758223023 TMEM9 Nonsynonymous SNV R156C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 218382 chr16 31091185 31091185 G A ZNF646 Synonymous SNV E1180E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.617 218383 chr17 27030601 27030601 G T rs188624178 PROCA1 Nonsynonymous SNV P213Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 218384 chr16 31157191 31157191 G A rs200651342 PRSS36 Synonymous SNV P213P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.564 218385 chr16 31388161 31388161 C T rs763511730 ITGAX Synonymous SNV S850S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.44 218386 chr17 32647292 32647292 A - rs767409941 CCL8 V28Ffs*11 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 218387 chr10 128358907 128358907 T C C10orf90 Nonsynonymous SNV K48R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 218388 chr10 129902633 129902633 T C rs771084759 MKI67 Nonsynonymous SNV M2131V 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 0.001 218389 chr1 205052681 205052681 T C rs1028204860 TMEM81 X256W 0 0 0 1 0 0 0.003 0 0 0 0 0 16.39 218390 chr17 34943557 34943557 G T GGNBP2 Nonsynonymous SNV G591V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.76 218391 chr21 41385021 41385021 G A rs190494751 DSCAM Synonymous SNV L1975L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.326 218392 chr1 208218471 208218471 C T rs371818683 PLXNA2 Nonsynonymous SNV V1194I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 218393 chr17 37342289 37342289 C T rs141322943 CACNB1 Nonsynonymous SNV G233S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.16 218394 chr3 195490935 195490935 T G MUC4 Synonymous SNV T388T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.962 218395 chr17 38189396 38189396 G A rs138006865 MED24 Synonymous SNV H232H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 1.421 218396 chr7 137638246 137638246 C G rs76941256 CREB3L2-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.735 218397 chr3 27472999 27472999 T A SLC4A7 Nonsynonymous SNV T314S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 218398 chr7 104773542 104773542 C T SRPK2 Nonsynonymous SNV R507Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 218399 chr17 39458524 39458524 C T rs539562194 KRTAP29-1 Nonsynonymous SNV V194I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.111 218400 chr7 141847278 141847278 T C rs977197211 MGAM2 Synonymous SNV F513F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.02 218401 chr1 224553683 224553683 A C CNIH4 Nonsynonymous SNV N81H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.13 218402 chr7 141920151 141920151 G A MGAM2 Nonsynonymous SNV S1947N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.57 218403 chr7 107818484 107818484 C T rs143805055 NRCAM Synonymous SNV P940P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.02 218404 chr1 226049929 226049929 G A rs191286059 TMEM63A Synonymous SNV S358S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.39 218405 chr3 38149153 38149153 C T DLEC1 Synonymous SNV Y981Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 218406 chr10 45488737 45488737 C T rs748679081 RASSF4 Nonsynonymous SNV T309M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 218407 chr1 228470817 228470817 G A rs371912582 OBSCN Nonsynonymous SNV V2857M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 218408 chr17 41169899 41169899 C G rs754343625 VAT1 Nonsynonymous SNV G272A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 218409 chr1 180135636 180135636 G A rs938910397 QSOX1 Synonymous SNV P92P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.177 218410 chr1 228509367 228509367 G A rs367752269 OBSCN Nonsynonymous SNV R4942Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 218411 chr7 149544896 149544896 C T rs768014175 ZNF862 Nonsynonymous SNV P105L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 218412 chr17 41891596 41891596 G A rs368475221 MPP3 Synonymous SNV P406P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.45 218413 chr10 50171967 50171967 C T rs908192083 WDFY4 Synonymous SNV A2768A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.54 218414 chr19 40719948 40719948 T C MAP3K10 Nonsynonymous SNV S788P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 218415 chr1 229773714 229773714 A G URB2 Synonymous SNV S1118S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.908 218416 chr16 88789029 88789029 G T rs560777575 PIEZO1 Synonymous SNV G1579G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.545 218417 chr7 138954262 138954262 A G rs779781897 UBN2 Nonsynonymous SNV N530S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.08 218418 chr7 13971352 13971352 G A ETV1 Nonsynonymous SNV P135S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 218419 chr10 71853583 71853583 C T H2AFY2 Synonymous SNV S190S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.15 218420 chr16 89871793 89871793 C T rs779131886 FANCA Nonsynonymous SNV D170N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.5 218421 chr17 263265 263294 GCCCTCAAGGGCTTCCACCCCGACCCCGAC - rs781887197 C17orf97 D220_P229del 0.001 0 0 0 1 0 0 0 0 0 0 0 218422 chr17 263356 263356 C - C17orf97 L242Sfs*176 0.001 0 0 0 1 0 0 0 0 0 0 0 218423 chr17 263360 263388 CAAGGGCATCCACCCCGACCCCGAGGCTC - C17orf97 K243Qfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 218424 chr17 57272128 57272128 T C PRR11 Nonsynonymous SNV L219S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 218425 chr22 33700300 33700300 C T rs149646216 LARGE1 Nonsynonymous SNV V549M 0 0 0 2 0 0 0.005 0 0 0 0 0 29.3 218426 chr22 36157319 36157319 C T rs75881123 RBFOX2 Synonymous SNV V227V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.72 218427 chr7 149558744 149558744 T C rs193067128 ZNF862 Nonsynonymous SNV M832T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.278 218428 chr17 62290889 62290889 G A rs376031448 TEX2 Nonsynonymous SNV S230L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.93 218429 chr17 64125886 64125886 C T rs549226002 CEP112 Nonsynonymous SNV R207H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 218430 chr7 150747587 150747587 G A ASIC3 Synonymous SNV V235V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 218431 chr7 158528253 158528253 C T rs139531934 ESYT2 Nonsynonymous SNV D795N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 218432 chr3 71026863 71026863 C A rs766683691 FOXP1 Synonymous SNV A353A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 218433 chr10 96961847 96961847 A G ACSM6 Nonsynonymous SNV S100G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 218434 chr2 3593382 3593382 - C RNASEH1 Frameshift insertion E259Gfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 218435 chr19 49513293 49513293 C T rs200111740 RUVBL2 Synonymous SNV R177R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 218436 chr19 49814195 49814195 C G rs753541500 SLC6A16 Nonsynonymous SNV G137A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 218437 chr3 97887970 97887970 C A rs72933946 OR5H15 Synonymous SNV R143R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.2 218438 chr3 9944748 9944748 G A rs145903274 IL17RE Synonymous SNV T44T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.817 218439 chr19 51378094 51378125 TGCACCCCCAGTGGGTGCTCACAGCTGCCCAT - rs748506110 KLK2 H56Pfs*5 0.003 0 0 0 3 0 0 0 0 0 0 0 218440 chr7 100680295 100680295 C G rs201207919 MUC17 Nonsynonymous SNV S1866R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.001 218441 chr17 7808437 7808437 G A rs118079592 CHD3 Synonymous SNV S1423S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 218442 chr2 27305377 27305377 G A rs200036857 EMILIN1 Nonsynonymous SNV R313H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.1 218443 chr2 29072806 29072806 G C rs773358536 SPDYA X314S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.628 218444 chr11 1027350 1027350 G A rs762655679 MUC6 Nonsynonymous SNV R717C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 218445 chr19 52537764 52537764 C T rs190069395 ZNF432 Nonsynonymous SNV E390K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 218446 chr11 108352774 108352774 C T rs546451106 POGLUT3 Nonsynonymous SNV R287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 218447 chr17 78318966 78318966 C T RNF213 Synonymous SNV H2277H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.383 218448 chr4 122078349 122078349 G C rs114015715 TNIP3 Nonsynonymous SNV T88R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 218449 chr11 108409854 108409854 G C rs141592774 EXPH5 Nonsynonymous SNV P38A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.264 218450 chr7 92763331 92763331 C T rs150143522 SAMD9L Nonsynonymous SNV V652I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 218451 chr4 138452213 138452213 C T rs369548290 PCDH18 Nonsynonymous SNV V344I 0.002 0 0 0 2 0 0 0 0 0 0 0 21 218452 chr11 116633882 116633882 C T rs745674051 BUD13 Synonymous SNV R141R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 218453 chr18 658133 658133 T G TYMSOS Nonsynonymous SNV S39R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.38 218454 chr4 152551012 152551012 C G FAM160A1 Synonymous SNV T379T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 218455 chr4 154631634 154631634 G A rs115378826 RNF175 Nonsynonymous SNV R292C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 218456 chr1 234553939 234553939 C A TARBP1 Nonsynonymous SNV G1199V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 218457 chr19 55912834 55912834 C T rs373411270 UBE2S Synonymous SNV T213T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.16 218458 chr7 73010041 73010041 G A rs782517116 MLXIPL Nonsynonymous SNV R746C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 218459 chr2 136566632 136566632 G A rs372534937 LCT Synonymous SNV H1095H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 0.015 218460 chr2 136736922 136736922 G A DARS1 Nonsynonymous SNV R47W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.1 218461 chr17 25930907 25930907 G A rs760015637 KSR1 Nonsynonymous SNV G520S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.785 218462 chr7 139030369 139030369 T C rs145330852 FMC1, FMC1-LUC7L2 Synonymous SNV G87G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 218463 chr17 26699286 26699286 G T rs113046253 SARM1 Nonsynonymous SNV A78S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.7 218464 chr2 73678616 73678616 G T rs28730853 ALMS1 Nonsynonymous SNV K1653N 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 14.09 218465 chr2 73679440 73679440 G A rs17009061 ALMS1 Nonsynonymous SNV R1928Q 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 0.717 218466 chr2 73784477 73784477 T A rs34617744 ALMS1 Synonymous SNV T3402T 0.006 0.003 0.003 3 7 1 0.008 1 0 0 0 0 Benign 10.58 218467 chr1 2436461 2436461 C T rs545946096 PLCH2 Nonsynonymous SNV R1354C 0 0 0 2 0 0 0.005 0 0 0 0 0 16.27 218468 chr2 152484265 152484265 C A rs758366497 NEB Nonsynonymous SNV W3062C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 218469 chr1 244541784 244541784 G A rs781388686 C1orf100 Synonymous SNV L56L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.022 218470 chr8 120118271 120118271 C T rs779336705 COLEC10 Synonymous SNV N225N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 218471 chr18 33706336 33706336 T C rs199596507 SLC39A6 Nonsynonymous SNV K212R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.98 218472 chr8 124266280 124266280 T C rs746663941 ZHX1 Nonsynonymous SNV N636S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.912 218473 chr4 184432105 184432105 G A rs111982284 ING2 Synonymous SNV X241X 0.002 0 0 0 2 0 0 0 0 0 0 0 7.404 218474 chr7 94027699 94027699 T C rs1801182 COL1A2 Synonymous SNV T29T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 3.676 218475 chr7 95039231 95039231 T C rs200897774 PON2 Nonsynonymous SNV N226S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Likely benign 2.113 218476 chr18 47787449 47787449 A G rs1032384159 CFAP53 Nonsynonymous SNV L153P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 218477 chr2 101644792 101644792 A G rs774924668 TBC1D8 Synonymous SNV I760I 0 0 0 3 0 0 0.008 0 0 0 0 0 9.942 218478 chr11 130583185 130583185 G A rs377461514 C11orf44 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 13.42 218479 chr11 133816151 133816151 C T rs370647370 IGSF9B Nonsynonymous SNV A23T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 218480 chr2 101925035 101925035 G A rs374342084 RNF149 Nonsynonymous SNV R6C 0 0 0 3 0 0 0.008 0 0 0 0 0 23.7 218481 chr11 14902053 14902054 AT - rs782242126 CYP2R1 M210Dfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 218482 chr17 38975137 38975137 - CCGCCGCCGTAT rs756899891 KRT10 G550_S551insYGGG 0.003 0 0 0 3 0 0 0 0 0 0 0 218483 chr17 38975148 38975148 - GCT rs748644147 KRT10 S547_G548insS 0.002 0 0 0 2 0 0 0 0 0 0 0 218484 chr2 107459567 107459567 G A rs139995152 ST6GAL2 Synonymous SNV H289H 0 0.003 0.003 5 0 1 0.013 1 0 0 0 0 8.388 218485 chr4 2460906 2460906 G A rs934539413 CFAP99 Nonsynonymous SNV R459H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 218486 chr2 107459705 107459705 C T rs143471919 ST6GAL2 Synonymous SNV E243E 0 0.003 0.003 5 0 1 0.013 1 0 0 0 0 9.103 218487 chr4 25678042 25678042 G A rs140514938 SLC34A2 Nonsynonymous SNV V581I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 218488 chr11 17578693 17578693 G A rs61910753 OTOG Nonsynonymous SNV A242T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.36 218489 chr4 2696715 2696715 C T rs146560056 FAM193A Synonymous SNV Y754Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.683 218490 chr2 109513601 109513601 A G rs3827760 EDAR Nonsynonymous SNV V370A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 19.61 218491 chr8 107752605 107752605 A C OXR1 Nonsynonymous SNV Y76S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 218492 chr8 110400776 110400776 A G PKHD1L1 Nonsynonymous SNV N207S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 218493 chr11 20673930 20673930 C T rs138242228 SLC6A5 Synonymous SNV L488L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 16.63 218494 chr11 20907067 20907067 A G rs115437355 NELL1 Nonsynonymous SNV Q138R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 218495 chr2 120925070 120925070 G C EPB41L5 Nonsynonymous SNV R664P 0 0 0 2 0 0 0.005 0 0 0 0 0 33 218496 chr1 27878378 27878378 C T rs762644111 AHDC1 Synonymous SNV P83P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Likely benign 14.76 218497 chr8 144808688 144808688 C T rs201981905 FAM83H Nonsynonymous SNV M981I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 218498 chr2 121992829 121992829 A C TFCP2L1 Nonsynonymous SNV D354E 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 218499 chr2 122106292 122106292 C A rs377740893 CLASP1 Synonymous SNV V1336V 0 0 0 2 0 0 0.005 0 0 0 0 0 13.14 218500 chr1 28339740 28339740 A C EYA3 Nonsynonymous SNV F171L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.5 218501 chr7 2552885 2552885 - GATG LFNG Frameshift insertion E56Gfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 218502 chr2 190340018 190340018 G A rs377641696 WDR75 Nonsynonymous SNV E790K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.26 218503 chr19 288158 288158 G A rs753773266 PLPP2 Synonymous SNV F22F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 218504 chr4 47676489 47676489 T C rs16860547 CORIN Synonymous SNV Q322Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 218505 chr11 33362606 33362606 C G rs751168585 HIPK3 Nonsynonymous SNV P569R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 218506 chr8 134125833 134125833 - GAGAATGCCACCCGGTAA TG Stop gain D2586_K2768del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 218507 chr4 48492364 48492364 C G ZAR1 Nonsynonymous SNV P19R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.55 218508 chr1 36055638 36055638 C T rs141350495 TFAP2E Nonsynonymous SNV S298L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 218509 chr8 145163553 145163553 C T WDR97 Nonsynonymous SNV P195L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.337 218510 chr4 55948138 55948138 A G KDR Nonsynonymous SNV L1278S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.25 218511 chr11 4703506 4703506 C T rs771709241 OR51E2 Nonsynonymous SNV V146M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 218512 chr4 66467757 66467757 T C EPHA5 Nonsynonymous SNV Y171C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 218513 chr19 1455153 1455153 T C rs143295265 APC2 Nonsynonymous SNV F140S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 22.9 218514 chr8 19218766 19218767 AA - SH2D4A E171Gfs*8 0.002 0 0 0 2 0 0 0 0 0 0 0 218515 chr20 35434281 35434281 G A rs368583782 SOGA1 Nonsynonymous SNV T965M 0.001 0.01 0 0 1 4 0 0 0 0 0 0 15.34 218516 chr1 43774719 43774719 C T rs199715734 TIE1 Nonsynonymous SNV R324W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 218517 chr19 2217905 2217905 C T rs544749605 DOT1L Synonymous SNV R893R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 17.52 218518 chr11 48346807 48346807 A G OR4C3 Synonymous SNV K78K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 218519 chr4 71665919 71665919 A G rs199999443 RUFY3 Nonsynonymous SNV H540R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.119 218520 chr19 2853809 2853809 T C rs150651290 ZNF555 Synonymous SNV H581H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.178 218521 chr4 73186516 73186516 C T rs147002650 ADAMTS3 Synonymous SNV Q339Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.273 218522 chr20 41514541 41514541 G A rs6030543 PTPRT Synonymous SNV N40N 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 2.916 218523 chr20 42144039 42144039 C G rs778976608 L3MBTL1 Nonsynonymous SNV S164W 0.001 0.008 0 0 1 3 0 0 0 0 0 0 27.1 218524 chr8 145060139 145060139 G A rs199910383 PARP10 Synonymous SNV A74A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 218525 chr17 48624582 48624582 C T rs910366475 SPATA20 Nonsynonymous SNV R5W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 218526 chr8 145154967 145154967 T C rs201294290 SHARPIN Nonsynonymous SNV K128E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 218527 chr20 42887205 42887205 A G rs761361698 GDAP1L1 Nonsynonymous SNV T188A 0.001 0.008 0 0 1 3 0 0 0 0 0 0 12.38 218528 chr4 76813062 76813062 C T rs201749049 PPEF2 Nonsynonymous SNV R42H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.3 218529 chr1 47016791 47016791 C T rs200362801 KNCN Nonsynonymous SNV V33I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.333 218530 chr1 52277675 52277675 G A rs372165502 NRDC Synonymous SNV Y590Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.009 218531 chr20 54978771 54978771 G A rs144971584 CSTF1 Synonymous SNV S428S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.594 218532 chr8 19263316 19263316 T A rs752428087 CSGALNACT1 Nonsynonymous SNV Q525L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.38 218533 chr17 63533469 63533469 G A rs149764887 AXIN2 Nonsynonymous SNV P562L 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 218534 chr19 6389523 6389523 G A rs761360004 GTF2F1 Synonymous SNV I86I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 218535 chr4 87679884 87679884 A G PTPN13 Nonsynonymous SNV I932V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 218536 chr19 6737518 6737518 C A GPR108 Nonsynonymous SNV V24L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.305 218537 chr20 57429350 57429350 G A rs748630556 GNAS Nonsynonymous SNV D344N 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 218538 chr20 57571801 57571801 C T rs375989357 CTSZ Nonsynonymous SNV E232K 0.003 0 0 0 3 0 0 0 0 0 0 0 28.8 218539 chr17 71197678 71197678 G A rs141750466 COG1 Nonsynonymous SNV R571Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.868 218540 chr8 66631617 66631617 C T PDE7A Nonsynonymous SNV G453R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 218541 chr8 66660007 66660007 T C PDE7A Synonymous SNV A105A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.293 218542 chr4 96163628 96163628 C T UNC5C Nonsynonymous SNV G354S 0.002 0 0 0 2 0 0 0 0 0 0 0 35 218543 chr2 202334744 202334744 C T rs773980693 STRADB Synonymous SNV N54N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.68 218544 chr8 81399087 81399087 A C ZBTB10 Synonymous SNV R14R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 218545 chr2 203059053 203059053 - A rs755286113 KIAA2012 Frameshift insertion Q1055Afs*34 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 218546 chr1 6692988 6692988 A G THAP3 Nonsynonymous SNV K190E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.9 218547 chr2 241535796 241535796 G A rs375653976 CAPN10 Nonsynonymous SNV A447T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.229 218548 chr5 112770509 112770509 G A rs367688907 TSSK1B Stop gain R10X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 218549 chr9 100995711 100995711 G A rs371125437 TBC1D2 Synonymous SNV D256D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.997 218550 chr9 101990259 101990259 A G rs146763020 SEC61B Synonymous SNV T60T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.494 218551 chr19 9058364 9058364 A G rs370758013 MUC16 Synonymous SNV S9694S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.259 218552 chr2 242572998 242572998 C T rs768237010 THAP4 Nonsynonymous SNV A192T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.163 218553 chr17 76089124 76089124 G A rs371862754 TNRC6C Nonsynonymous SNV V1358I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 218554 chr8 10467630 10467630 T G RP1L1 Nonsynonymous SNV K1326N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.925 218555 chr17 76498876 76498876 G C DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.01 218556 chr1 878143 878180 GTCCCGGGACTCTGCCCGGCGAGCCCCCCGGAAGGGGG - SAMD11 D426Pfs*16 0.001 0 0 1 1 0 0.003 0 0 0 0 0 218557 chr2 27466338 27466338 C T CAD Synonymous SNV G2147G 0 0 0 2 0 0 0.005 0 0 0 0 0 17.28 218558 chr9 114304596 114304596 C T rs942320984 ZNF483 Nonsynonymous SNV H461Y 0.002 0 0 0 2 0 0 0 0 0 0 0 19.45 218559 chr19 10426420 10426420 C G FDX2 Nonsynonymous SNV G57A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.523 218560 chr9 116276847 116276847 G A rs34316750 RGS3 Synonymous SNV P248P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.074 218561 chr21 37618249 37618249 G A DOP1B Nonsynonymous SNV R1324H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 32 218562 chr21 37618621 37618621 T C DOP1B Nonsynonymous SNV L1448P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.8 218563 chr11 609435 609435 C T rs371501718 PHRF1 Nonsynonymous SNV H1327Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.73 218564 chr5 137892502 137892502 G C HSPA9 Synonymous SNV T594T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.863 218565 chr19 13318386 13318386 G A rs573961089 CACNA1A Nonsynonymous SNV P2421L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 218566 chr19 13318387 13318387 G C rs544924244 CACNA1A Nonsynonymous SNV P2421A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 218567 chr9 101594072 101594072 G A rs146690078 GALNT12 Synonymous SNV S250S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.78 218568 chr2 231033855 231033855 G C rs200020664 SP110 Nonsynonymous SNV F685L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.66 218569 chr5 140798597 140798597 C G PCDHGB7 Nonsynonymous SNV P391A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 218570 chr2 233740822 233740822 C T rs200671292 SNORC Synonymous SNV D93D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 13.38 218571 chr19 15648409 15648409 C G rs187004457 CYP4F22 Nonsynonymous SNV A162G 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Uncertain significance 24.4 218572 chr18 7009293 7009293 C T rs149753863 LAMA1 Nonsynonymous SNV D1316N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.746 218573 chr11 64953450 64953450 G A rs201854138 CAPN1 Synonymous SNV G173G 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 14.83 218574 chr19 16060345 16060345 C T rs146994094 OR10H4 Synonymous SNV H176H 0.002 0 0 0 2 0 0 0 0 0 0 0 2.796 218575 chr9 131370295 131370295 C T SPTAN1 Synonymous SNV R1417R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 218576 chr2 67630371 67630371 G C rs201056460 ETAA1 Nonsynonymous SNV S186T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19.75 218577 chr18 21427487 21427487 C T rs373918034 LAMA3 Nonsynonymous SNV R1331C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.2 218578 chr2 241401696 241401696 G A rs190580810 GPC1 Synonymous SNV A138A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.81 218579 chr2 241421644 241421646 CTT - rs747196781 ANKMY1 K637del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 218580 chr20 25013014 25013014 G A rs766949230 ACSS1 Nonsynonymous SNV P20L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.506 218581 chr19 17612187 17612187 G A rs749948355 SLC27A1 Nonsynonymous SNV R581Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 218582 chr11 66627460 66627460 C A rs770897306 LRFN4 Nonsynonymous SNV P568T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.75 218583 chr18 28913613 28913613 T C DSG1 Nonsynonymous SNV M249T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 218584 chr2 71058847 71058847 T - CD207 K274Rfs*5 0.001 0 0 2 1 0 0.005 0 0 0 0 0 218585 chr20 2638783 2638783 C A NOP56 Nonsynonymous SNV T543K 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 8.246 218586 chr20 2638900 2638900 A G rs769313738 NOP56 Nonsynonymous SNV K582R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.6 218587 chr5 150925005 150925005 G A rs34464977 FAT2 Nonsynonymous SNV R1895W 0.002 0 0 0 2 0 0 0 0 0 0 0 12.06 218588 chr2 242811915 242811915 C T rs191692816 RTP5 Nonsynonymous SNV R3W 0 0 0 1 0 0 0.003 0 0 0 0 0 17.55 218589 chr5 151784258 151784258 G A rs141825293 NMUR2 Synonymous SNV T139T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.272 218590 chr19 18576654 18576654 G A rs752987499 ELL Synonymous SNV R86R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 218591 chr5 154396354 154396354 C A KIF4B Nonsynonymous SNV Q979K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 218592 chr18 42531240 42531240 G C SETBP1 Nonsynonymous SNV E645D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.689 218593 chr18 42531351 42531351 G C SETBP1 Nonsynonymous SNV L682F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 218594 chr19 19105189 19105189 G A rs201373924 SUGP2 Nonsynonymous SNV R1079W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 218595 chr5 156946918 156946918 C T rs199752656 ADAM19 Nonsynonymous SNV E177K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.535 218596 chr19 21240072 21240072 G C ZNF430 Nonsynonymous SNV E319Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 218597 chr11 75378658 75378658 C T rs540179939 MAP6 Nonsynonymous SNV G253S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 218598 chr9 130928668 130928668 C A CIZ1 Nonsynonymous SNV K734N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 218599 chr5 176793735 176793735 G A rs750100675 RGS14 Synonymous SNV A91A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 218600 chr5 176887694 176887694 C T rs776167710 DBN1 Nonsynonymous SNV R261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 218601 chr3 17418029 17418029 G C TBC1D5 Nonsynonymous SNV S94C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 218602 chr19 35775693 35775693 C T rs146776859 HAMP Nonsynonymous SNV T31M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.07 218603 chr9 132084144 132084144 G A rs199518594 C9orf106 0.003 0 0 0 3 0 0 0 0 0 0 0 2.384 218604 chr20 44639599 44639599 C T rs55789927 MMP9 Nonsynonymous SNV L187F 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 32 218605 chr19 36258061 36258061 C T rs115018933 PROSER3 Nonsynonymous SNV P349L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.582 218606 chr19 36277637 36277637 C T rs114957589 ARHGAP33 Synonymous SNV P619P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 218607 chr19 36291057 36291057 C T rs114228438 PRODH2 Synonymous SNV L498L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 218608 chr19 36303420 36303420 G C rs147960570 PRODH2 Synonymous SNV L147L 0.005 0.005 0.007 0 6 2 0 2 0 0 0 0 0.489 218609 chr19 36557245 36557245 G A rs146485488 WDR62 Synonymous SNV A159A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.83 218610 chr19 36592586 36592586 G A WDR62 Nonsynonymous SNV D998N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.27 218611 chr5 181729 181729 C T rs114885385 PLEKHG4B Synonymous SNV D1501D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.78 218612 chr19 37967267 37967267 A T ZNF570 Nonsynonymous SNV I21L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 218613 chr3 38760151 38760151 A G rs139638446 SCN10A Nonsynonymous SNV I1127T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 218614 chr19 38189783 38189783 C T rs200611581 ZNF607 Nonsynonymous SNV G416S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29 218615 chr19 38774426 38774426 C T rs200143906 SPINT2 Nonsynonymous SNV A89V 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 218616 chr5 35014107 35014107 C T rs766572860 AGXT2 Nonsynonymous SNV V361I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.8 218617 chr3 44496718 44496718 A C ZNF445 Synonymous SNV P108P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.65 218618 chr12 104277431 104277431 A G rs1002489200 TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.848 218619 chr12 105600970 105600970 C T rs148334760 APPL2 Nonsynonymous SNV G170R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.49 218620 chr5 50090145 50090145 A G PARP8 Nonsynonymous SNV H281R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 218621 chr19 41179420 41179420 C T rs746596158 NUMBL Nonsynonymous SNV A248T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 218622 chr3 47058736 47058736 G A rs767954928 SETD2 Synonymous SNV H2470H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.381 218623 chr9 37768081 37768081 T C rs779504246 TRMT10B Synonymous SNV S65S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.844 218624 chr3 48265198 48265198 C T rs749339540 CAMP Nonsynonymous SNV T66M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.09 218625 chr5 5462002 5462002 C T rs72646683 ICE1 Nonsynonymous SNV S852L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.81 218626 chr20 61492568 61492568 G A TCFL5 Nonsynonymous SNV A152V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.083 218627 chr3 48501230 48501230 G A ATRIP Nonsynonymous SNV G231R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 218628 chr3 49050304 49050304 G A rs149312870 WDR6 Nonsynonymous SNV R420H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 218629 chr5 54786905 54786905 T C rs770033000 PLPP1 Nonsynonymous SNV I32M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 218630 chr3 49698530 49698530 T A BSN Synonymous SNV P3084P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.811 218631 chr3 50313888 50313888 G T rs781933349 SEMA3B Nonsynonymous SNV Q324H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.3 218632 chr3 52522559 52522559 C T rs550742605 NISCH Synonymous SNV P1017P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.686 218633 chr9 20865973 20865973 A G rs151286548 FOCAD Nonsynonymous SNV K702E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.5 218634 chr9 90311995 90311995 A C rs200646173 DAPK1 Synonymous SNV A829A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.8 218635 chr3 62118326 62118326 G A rs144784343 PTPRG Synonymous SNV K222K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.052 218636 chr3 62189035 62189035 - GGT rs777567761 PTPRG G525_I526insG 0 0 0 1 0 0 0.003 0 0 0 0 0 218637 chr19 4847757 4847757 G A rs76682008 PLIN3 Synonymous SNV A260A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.07 218638 chr9 98876927 98876927 G A LOC158434 0.002 0 0 0 2 0 0 0 0 0 0 0 3.16 218639 chr5 78417158 78417158 G A rs59866108 BHMT Nonsynonymous SNV G199S 0.003 0 0.014 2 4 0 0.005 4 0 0 0 0 Benign 21.1 218640 chr12 124115020 124115020 A G rs199544322 EIF2B1 Nonsynonymous SNV V59A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 13.02 218641 chr12 124241408 124241408 C T rs201694504 ATP6V0A2 Synonymous SNV R780R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 12.2 218642 chr19 47987376 47987376 C A KPTN Nonsynonymous SNV L14F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 218643 chr12 129278745 129278745 G A rs113773617 SLC15A4 Nonsynonymous SNV A577V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 218644 chr12 129285445 129285445 C T rs34026236 SLC15A4 Synonymous SNV P456P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 218645 chr12 129431953 129431953 G A rs759619312 GLT1D1 Nonsynonymous SNV A108T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 218646 chr19 8564431 8564502 CTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCAAGGACACTGCACCAAA - PRAM1 F64_E87del 0.001 0 0 0 1 0 0 0 0 0 0 0 218647 chr19 49228142 49228142 C T rs202046985 RASIP1 Nonsynonymous SNV A735T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 218648 chr19 49604706 49604706 C T rs144779182 SNRNP70 Synonymous SNV Y151Y 0.002 0 0 0 2 0 0 0 0 0 0 0 4.945 218649 chr5 96222469 96222469 T G ERAP2 Nonsynonymous SNV S275R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 218650 chr6 106960650 106960650 A G rs202196278 CRYBG1 Nonsynonymous SNV K145R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.13 218651 chr12 1902897 1902897 G A rs200044179 CACNA2D4 Nonsynonymous SNV S1113L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 218652 chr19 50831806 50831806 C T rs371833496 KCNC3 Synonymous SNV E102E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 218653 chr6 11185860 11185860 C T rs140674252 NEDD9 Synonymous SNV V531V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.681 218654 chr12 2786850 2786850 - TTGGAGGA rs398102378 CACNA1C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 218655 chr12 2788901 2788901 G A rs111298509 CACNA1C Nonsynonymous SNV G1803R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.26 218656 chr3 183681249 183681249 C T ABCC5 Nonsynonymous SNV G248D 0 0 0 2 0 0 0.005 0 0 0 0 0 32 218657 chr12 3409211 3409211 G A rs7305358 LOC100128253 0 0 0.007 0 0 0 0 2 0 0 0 0 7.286 218658 chrX 54957176 54957176 G A rs45438793 TRO Nonsynonymous SNV G871D 0.003 0 0 3 4 0 0.008 0 1 0 0 1 23.9 218659 chr6 127898624 127898624 T A C6orf58 Stop gain Y98X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 218660 chr3 124165081 124165081 C T rs369152427 KALRN Synonymous SNV D1077D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.48 218661 chr12 45567852 45567852 C T rs557969310 PLEKHA8P1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.401 218662 chr22 18028150 18028150 T C rs201137830 CECR2 Nonsynonymous SNV I894T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 218663 chr22 20104016 20104016 C T TRMT2A Synonymous SNV G48G 0 0 0 2 0 0 0.005 0 0 0 0 0 7.905 218664 chr1 902127 902127 G T PLEKHN1 Nonsynonymous SNV A43S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.012 218665 chr3 129152714 129152714 T C rs527715494 MBD4 Nonsynonymous SNV I146V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.19 218666 chr3 130095165 130095165 G A rs752494265 COL6A5 Synonymous SNV T51T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.255 218667 chr19 12788163 12788163 G A rs371100778 DHPS Synonymous SNV G200G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.313 218668 chr19 12790653 12790653 G A rs369520819 DHPS Synonymous SNV S110S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 218669 chr19 13136167 13136167 G A rs369056833 NFIX Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.198 218670 chr22 24917980 24917980 G A rs377084639 UPB1 Synonymous SNV S300S 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 13.89 218671 chr3 133673889 133673889 G A rs553513419 SLCO2A1 Synonymous SNV I182I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.578 218672 chrX 152845525 152845525 G C rs782570248 ATP2B3 Synonymous SNV T1144T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.69 218673 chr3 137960693 137960693 G A rs147482396 ARMC8 Synonymous SNV E229E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 218674 chr3 138219252 138219252 A T rs114744558 CEP70 Nonsynonymous SNV L357H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.7 218675 chr19 55449446 55449446 C A NLRP7 Nonsynonymous SNV V699L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.039 218676 chr6 1612141 1612141 - GCG rs747574884 FOXC1 A495_G496insA 0.002 0 0 0 2 0 0 0 0 0 0 0 218677 chrX 30326502 30326502 C T rs369139831 NR0B1 Nonsynonymous SNV E327K 0.001 0.005 0 0 1 2 0 0 0 1 0 0 24.4 218678 chrX 30326508 30326508 G A rs373426366 NR0B1 Nonsynonymous SNV R325W 0.001 0.005 0 0 1 2 0 0 0 1 0 0 29.6 218679 chrX 31089711 31089711 C G rs16989319 FTHL17 Nonsynonymous SNV Q120H 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.012 218680 chrX 31139998 31139998 C T rs16989352 DMD Synonymous SNV A607A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Benign 11.2 218681 chr1 9098972 9098972 A G SLC2A5 Nonsynonymous SNV L191P 0.003 0 0 0 3 0 0 0 0 0 0 0 20.3 218682 chr1 9324224 9324224 G A rs560717968 H6PD Nonsynonymous SNV A569T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 218683 chr22 32110033 32110033 T G rs780700002 PRR14L Synonymous SNV P1264P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.67 218684 chr22 32923919 32923919 C T rs199645736 SYN3 Nonsynonymous SNV R435H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 27.4 218685 chr12 55714593 55714593 G A rs375702387 OR6C1 Synonymous SNV S70S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 218686 chr19 17312735 17312735 A G rs200323147 MYO9B Nonsynonymous SNV I1522V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.742 218687 chr3 168812864 168812864 C T rs767306816 MECOM Nonsynonymous SNV G811S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 218688 chr22 36684352 36684352 G A rs143947828 MYH9 Synonymous SNV I1626I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.58 218689 chrX 48763766 48763766 A T SLC35A2 Nonsynonymous SNV V49E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 218690 chr12 57348789 57348789 C A rs200197274 RDH16 Nonsynonymous SNV R158L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 218691 chr3 179371042 179371042 T C USP13 Nonsynonymous SNV M10T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 218692 chr19 17892136 17892136 G A rs934234198 FCHO1 Nonsynonymous SNV R525H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 218693 chr6 25845700 25845700 G A rs116732075 SLC17A3 Synonymous SNV A391A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 218694 chrX 7268154 7268154 A G STS Nonsynonymous SNV D530G 0.001 0.005 0 0 1 2 0 0 0 1 0 0 7.769 218695 chr12 6438649 6438649 C A rs140486890 TNFRSF1A Synonymous SNV A291A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.2 218696 chr19 57888586 57888586 T C rs146966640 ZNF547 Nonsynonymous SNV L81P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.389 218697 chr19 58265149 58265149 T G rs376321706 ZNF776 Nonsynonymous SNV F217L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.036 218698 chr19 19655318 19655318 A T CILP2 Nonsynonymous SNV Q655L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 218699 chr22 40745887 40745887 C G rs200169254 ADSL Nonsynonymous SNV L69V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.47 218700 chr12 6777069 6777069 - TGCTGC ZNF384 Q400_P401insQQ 0 0 0.003 0 0 0 0 1 0 0 0 0 218701 chr1 19437242 19437242 G A rs755411336 UBR4 Synonymous SNV P3962P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 218702 chr1 20224042 20224042 A G rs528426495 OTUD3 Nonsynonymous SNV T165A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 218703 chr10 100183595 100183595 G A rs755120094 HPS1 Nonsynonymous SNV R363W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 218704 chr1 20662979 20662979 G C VWA5B1 Nonsynonymous SNV D648H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 218705 chr1 22157795 22157795 G A rs111866498 HSPG2 Synonymous SNV I3826I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 218706 chr19 30165157 30165157 G T PLEKHF1 Synonymous SNV T137T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.961 218707 chr12 76740500 76740500 C T rs138961848 BBS10 Nonsynonymous SNV R422Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.57 218708 chr10 102783798 102783798 T C PDZD7 Nonsynonymous SNV H85R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 218709 chr10 103360507 103360507 G A rs149463737 DPCD Nonsynonymous SNV R53H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 218710 chr10 104181654 104181654 G A rs746524718 FBXL15 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 218711 chr3 193855647 193855647 C T rs144918671 HES1 Synonymous SNV P156P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 218712 chr6 35755680 35755680 C T rs201083630 CLPSL1 Nonsynonymous SNV R87W 0.002 0 0 0 2 0 0 0 0 0 0 0 17.12 218713 chr3 194081159 194081159 T C rs146436090 LRRC15 Nonsynonymous SNV Y205C 0 0 0 1 0 0 0.003 0 0 0 0 0 6.561 218714 chr6 38976664 38976664 T C rs765911536 DNAH8 Nonsynonymous SNV V4213A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 218715 chr10 111986000 111986000 G A MXI1 Nonsynonymous SNV R11H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 218716 chr20 3677371 3677371 G A rs145054659 SIGLEC1 Nonsynonymous SNV R849W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 218717 chr4 515706 515706 C T rs752835035 PIGG Synonymous SNV L397L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.55 218718 chr1 27623617 27623617 T A rs374404380 WDTC1 Nonsynonymous SNV F343Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.23 218719 chr12 98989593 98989593 G A rs141298226 SLC25A3 Synonymous SNV V82V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 218720 chr10 116070173 116070173 G A rs146737461 AFAP1L2 Synonymous SNV S274S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.748 218721 chr22 50913228 50913228 C T rs763539016 SBF1 Synonymous SNV G14G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.41 218722 chr22 51021062 51021062 T C rs138205828 CHKB Nonsynonymous SNV Y50C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 25.1 218723 chr6 44272473 44272473 C T rs139280416 AARS2 Nonsynonymous SNV R554H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.2 218724 chr22 51065310 51065310 G A rs200182983 ARSA Synonymous SNV A212A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 9.996 218725 chr6 46135209 46135209 A G rs1000025781 ENPP5 Nonsynonymous SNV I170T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 218726 chr10 121432035 121432035 C T rs757710876 BAG3 Nonsynonymous SNV P259L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 218727 chr1 36785343 36785343 C T rs148214820 SH3D21 Nonsynonymous SNV A249V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.485 218728 chr2 102626274 102626274 C T rs142963191 IL1R2 Synonymous SNV Y106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.64 218729 chr20 23346242 23346242 C T GZF1 Nonsynonymous SNV R408C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 218730 chr13 111368270 111368270 C T rs768845466 ING1 Synonymous SNV L160L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.379 218731 chr6 52767199 52767199 T C rs41273858 GSTA3 Nonsynonymous SNV N23D 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign 24.9 218732 chr13 21619830 21619830 G A rs577344953 LATS2 Synonymous SNV C112C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.693 218733 chr4 7044585 7044585 C G rs560456730 CCDC96 Nonsynonymous SNV K27N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.767 218734 chr13 24798139 24798139 C T rs748926871 SPATA13 Nonsynonymous SNV H358Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25 218735 chr4 8442591 8442591 G A TRMT44 Synonymous SNV A14A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 218736 chr1 43675539 43675539 G A rs148341430 CFAP57 Synonymous SNV L627L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 218737 chr1 53925513 53925513 C T rs763281231 DMRTB1 Synonymous SNV P129P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 12.52 218738 chrX 108924243 108924243 T G rs370890935 ACSL4 Synonymous SNV G254G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.833 218739 chr20 37277336 37277336 A C rs773977272 ARHGAP40 Nonsynonymous SNV N643T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 218740 chr10 134622101 134622101 T G rs35981039 CFAP46 Nonsynonymous SNV K2658Q 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.002 218741 chr10 134622290 134622290 C T rs774318310 CFAP46 Nonsynonymous SNV A2595T 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 19.34 218742 chr10 134622360 134622360 G C rs61733295 CFAP46 Synonymous SNV L2571L 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.207 218743 chr20 39833157 39833157 C T rs147244423 ZHX3 Nonsynonymous SNV G134R 0.003 0 0 0 3 0 0 0 0 0 0 0 28.3 218744 chr4 36231047 36231047 T C ARAP2 Nonsynonymous SNV E21G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.38 218745 chr6 86201861 86201863 GAT - rs773159066 NT5E M460del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 218746 chr10 13736004 13736004 G A rs774148025 FRMD4A Synonymous SNV I28I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.31 218747 chr6 90395529 90395529 G A rs199956403 LOC101929057 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 3.328 218748 chr4 44688041 44688041 G A rs141526764 GUF1 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 218749 chr20 52591937 52591937 C T rs139421363 BCAS1 Synonymous SNV A391A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 218750 chr20 55100061 55100061 T C rs707554 FAM209A Nonsynonymous SNV V66A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.044 218751 chr20 55100084 55100084 C A rs17407677 FAM209A Nonsynonymous SNV Q74K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.043 218752 chr10 24834889 24834889 C G rs201391907 KIAA1217 Nonsynonymous SNV S941C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 218753 chr13 98666302 98666302 G A IPO5 Nonsynonymous SNV R720Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 218754 chr4 55973911 55973911 C T rs941528100 KDR Nonsynonymous SNV E469K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 218755 chr4 57366727 57366727 A G rs41280351 SRP72 Synonymous SNV P507P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.774 218756 chr19 48789410 48789410 G A rs779177833 ZNF114 Nonsynonymous SNV D177N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.006 218757 chr20 60891030 60891030 G A rs146185895 LAMA5 Nonsynonymous SNV A2614V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 218758 chr4 70513329 70513329 T C rs181068260 UGT2A1 Nonsynonymous SNV I12V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.051 218759 chr2 1652731 1652731 C T rs189824177 PXDN Nonsynonymous SNV V941M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.7 218760 chr10 35929131 35929131 G A rs74989785 FZD8 Synonymous SNV A409A 0.003 0.003 0.007 3 3 1 0.008 2 0 0 0 0 1.466 218761 chr4 76580286 76580286 C T rs552885677 G3BP2 Synonymous SNV P230P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.593 218762 chr1 86898069 86898069 C T CLCA2 Nonsynonymous SNV T201I 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 218763 chr1 89616026 89616026 A G rs149485505 GBP7 Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 218764 chr14 21469114 21469114 T G rs762488683 SLC39A2 Stop gain Y102X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 218765 chr4 85419196 85419196 C T rs967639094 NKX6-1 Synonymous SNV P62P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 218766 chr2 179485629 179485629 G A rs760790889 TTN Synonymous SNV A6171A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.814 218767 chr19 51857430 51857430 C T rs989233154 ETFB Nonsynonymous SNV V155I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 218768 chr2 179698968 179698968 C T rs1044062588 CCDC141 Nonsynonymous SNV V1509I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.898 218769 chr21 34707943 34707943 G T rs142438988 IFNAR1 Nonsynonymous SNV D64Y 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 218770 chr21 38309272 38309272 G A rs112176097 HLCS Nonsynonymous SNV T305M 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 6.325 218771 chr7 11091394 11091394 C T rs201677864 PHF14 Nonsynonymous SNV P823L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 218772 chr21 40569106 40569106 T C rs893026173 BRWD1 Synonymous SNV K1963K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.021 218773 chr21 41033308 41033308 C T rs372655965 B3GALT5 Synonymous SNV S274S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.764 218774 chr21 41137679 41137679 G A rs117766152 IGSF5 Synonymous SNV S106S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.378 218775 chr2 18736771 18736771 G A rs143289874 NT5C1B-RDH14, RDH14 Nonsynonymous SNV R233C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 218776 chr7 123257743 123257743 G C ASB15 Nonsynonymous SNV V135L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.4 218777 chr10 73468861 73468861 A G rs780328244 CDH23 Nonsynonymous SNV N1038S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 218778 chr10 73501538 73501538 G A rs770158826 CDH23 Nonsynonymous SNV E1569K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 218779 chr10 74034531 74034531 A G rs150709456 DDIT4 Nonsynonymous SNV N95S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.619 218780 chr10 74937685 74937685 C T rs775960643 FAM149B1 Synonymous SNV G78G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.35 218781 chr19 55421386 55421386 G A rs775855444 NCR1 Nonsynonymous SNV E120K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.69 218782 chr4 151242409 151242409 T G rs62346982 LRBA Nonsynonymous SNV T2522P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.889 218783 chr21 47678968 47678968 G A rs565059756 MCM3AP Nonsynonymous SNV R1207C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 218784 chr2 207620027 207620027 G A rs145046021 MDH1B Nonsynonymous SNV R108C 0 0 0 2 0 0 0.005 0 0 0 0 0 7.354 218785 chr1 150958867 150958867 G A ANXA9 Synonymous SNV Q176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.69 218786 chr2 209141480 209141480 C T rs150804503 PIKFYVE Nonsynonymous SNV R123C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 218787 chr19 56370038 56370038 G A rs111284755 NLRP4 Nonsynonymous SNV A427T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 1.29 218788 chr1 152732565 152732565 G T KPRP Synonymous SNV G167G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 218789 chr4 6882685 6882685 C T KIAA0232 Nonsynonymous SNV H1394Y 0 0 0 2 0 0 0.005 0 0 0 0 0 29.8 218790 chr14 68066869 68066869 G A rs772178028 PIGH Stop gain Q18X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 218791 chr4 175414330 175414330 C T rs148874494 HPGD Nonsynonymous SNV D144N 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 21.5 218792 chr2 218682489 218682489 G A rs150357038 TNS1 Synonymous SNV G1397G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.984 218793 chr7 149512408 149512408 C T rs377441983 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 15.38 218794 chr22 22869617 22869617 C T rs200453232 ZNF280A Nonsynonymous SNV S113N 0.002 0 0 0 2 0 0 0 0 0 0 0 2.25 218795 chr10 97444347 97444347 C G rs748918213 TCTN3 Nonsynonymous SNV G335A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 218796 chr7 150174554 150174554 A G rs762033754 GIMAP8 Nonsynonymous SNV M562V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 218797 chr4 187549409 187549409 C T rs562017880 FAT1 Nonsynonymous SNV R1570Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 218798 chr14 81728269 81728269 C T STON2 Nonsynonymous SNV E874K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 218799 chr14 81743830 81743830 C T rs148802472 STON2 Nonsynonymous SNV A609T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.4 218800 chr22 29876621 29876621 A T NEFH Nonsynonymous SNV S124C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 218801 chr19 59060713 59060713 G T TRIM28 Nonsynonymous SNV A560S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.189 218802 chr2 227662338 227662338 G A rs147944503 IRS1 Nonsynonymous SNV R373C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 218803 chr14 92548750 92548750 G A rs371037244 ATXN3 Synonymous SNV D102D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.027 218804 chr4 8242572 8242572 T C rs368666784 SH3TC1 Nonsynonymous SNV Y1225H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 26.5 218805 chr7 18696554 18696554 C T rs1035688621 HDAC9 Nonsynonymous SNV R495C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.856 218806 chr22 31522455 31522455 C T rs185711845 INPP5J Synonymous SNV G20G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 218807 chr5 5461097 5461097 C T rs370862134 ICE1 Synonymous SNV T550T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.95 218808 chr7 21938980 21938980 G A rs113653972 DNAH11 Nonsynonymous SNV R4359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 218809 chr10 43882770 43882770 T C rs778573587 HNRNPF Nonsynonymous SNV Q188R 0.001 0 0 4 1 0 0.01 0 0 0 0 0 3.536 218810 chr1 165638548 165638548 C T rs139040317 ALDH9A1 Nonsynonymous SNV R357Q 0.003 0 0 0 3 0 0 0 0 0 0 0 21.8 218811 chr15 101109682 101109682 A T rs779552573 LINS1 Nonsynonymous SNV S679T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 218812 chr22 37693621 37693621 T C rs149336996 CYTH4 Nonsynonymous SNV I27T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.051 218813 chr20 3870094 3870094 G C rs767712182 PANK2 Nonsynonymous SNV G116A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 218814 chr15 22848976 22848976 C G rs377198414 TUBGCP5 Nonsynonymous SNV S341R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.534 218815 chr22 38211173 38211173 C T rs142152598 GCAT Nonsynonymous SNV S232F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.6 218816 chr5 108171409 108171409 G T rs35150210 FER Nonsynonymous SNV V128F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 218817 chr7 31003693 31003693 C T rs142361839 GHRHR Nonsynonymous SNV R4W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 7.841 218818 chr22 41736088 41736088 T C ZC3H7B Nonsynonymous SNV L362P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 218819 chr15 33010851 33010851 G T rs576236401 LOC100131315 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 218820 chr11 10647602 10647602 C T rs202119960 MRVI1 Nonsynonymous SNV G112S 0.003 0.005 0.003 2 3 2 0.005 1 0 0 0 0 0.06 218821 chr7 33296971 33296971 G A rs547643751 BBS9 Nonsynonymous SNV R67H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 218822 chr15 39544679 39544679 G A rs754155868 C15orf54 0 0 0.003 0 0 0 0 1 0 0 0 0 7.957 218823 chr15 41804143 41804143 G A rs761314631 LTK Nonsynonymous SNV L177F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 218824 chr10 71000447 71000447 G A rs146839444 HKDC1 Nonsynonymous SNV V211M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 218825 chr10 71008183 71008183 C T HKDC1 Synonymous SNV Y423Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.3 218826 chr5 72348172 72348172 C A FCHO2 Nonsynonymous SNV N304K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 218827 chr2 28763274 28763274 G A rs202064271 PLB1 Nonsynonymous SNV R258Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 218828 chr2 29140832 29140832 G T WDR43 Nonsynonymous SNV D274Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 218829 chr15 44829017 44829017 A C EIF3J-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 5.994 218830 chr11 119044781 119044781 C G NLRX1 Nonsynonymous SNV L275V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 218831 chr11 119050965 119050965 C A NLRX1 Synonymous SNV L745L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.02 218832 chr11 119170422 119170422 C T rs879302360 CBL Synonymous SNV N884N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 10.48 218833 chr7 48327663 48327663 G T rs199656243 ABCA13 Nonsynonymous SNV Q2981H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 218834 chr10 81317075 81317075 G C rs149750535 SFTPA2 Nonsynonymous SNV R223G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 218835 chr15 50769664 50769664 C G USP8 Nonsynonymous SNV Q319E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 218836 chr7 64292499 64292499 C A rs150799949 ZNF138 Synonymous SNV T146T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 218837 chr5 90072342 90072342 A C rs200805176 ADGRV1 Nonsynonymous SNV H4159P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.34 218838 chr5 90085555 90085555 T A rs910190865 ADGRV1 Nonsynonymous SNV F4644I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 218839 chr7 65599361 65599361 A T rs145491058 CRCP Nonsynonymous SNV K47I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 218840 chr11 124310904 124310904 G C rs771492054 OR8B8 Synonymous SNV P26P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.55 218841 chr5 94956941 94956941 C A rs544830129 GPR150 Stop gain S321X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 218842 chr15 62221828 62221828 C T VPS13C Nonsynonymous SNV S2010N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 218843 chr7 74489389 74489389 A C rs782285780 RCC1L Nonsynonymous SNV F62C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.9 218844 chr1 212002468 212002468 G T rs374276472 LPGAT1 Synonymous SNV I57I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 218845 chr11 126305175 126305175 C A KIRREL3 Nonsynonymous SNV G526W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 218846 chrX 53115368 53115368 T C rs782420071 TSPYL2 Synonymous SNV D598D 0.002 0 0.007 0 2 0 0 2 1 0 0 0 6.231 218847 chr11 129742954 129742954 G A rs137981370 NFRKB Nonsynonymous SNV T888M 0.002 0 0.003 4 2 0 0.01 1 0 0 0 0 24.8 218848 chr15 74473158 74473158 G A rs543913427 STRA6 Nonsynonymous SNV P602L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 218849 chr15 74710277 74710277 G A rs768477715 SEMA7A Nonsynonymous SNV R122W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 218850 chr15 76019664 76019664 C A ODF3L1 Nonsynonymous SNV T203K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 218851 chr5 131409573 131409573 C T rs766529017 CSF2 Synonymous SNV P19P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.854 218852 chrX 102335112 102335112 A G NXF3 Synonymous SNV C320C 0.002 0 0 0 2 0 0 0 1 0 0 0 0.011 218853 chr5 134190939 134190939 G A C5orf24 Nonsynonymous SNV G117R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 218854 chr2 74709501 74709501 C T CCDC142 Nonsynonymous SNV R155Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.42 218855 chrX 114361453 114361453 C A rs781788066 LRCH2 Nonsynonymous SNV D582Y 0.002 0 0 0 2 0 0 0 1 0 0 0 25 218856 chr7 98030153 98030153 C T rs755673546 BAIAP2L1 Synonymous SNV G4G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.74 218857 chr1 227923055 227923055 - A rs376676482 JMJD4 Frameshift insertion L20Sfs*191 0.003 0 0 2 3 0 0.005 0 0 0 0 0 218858 chr2 84771382 84771382 A - DNAH6 N231Mfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 218859 chr8 102213874 102213874 A T ZNF706 Synonymous SNV A32A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.509 218860 chr20 62572207 62572207 - T UCKL1 Frameshift insertion D358Efs*32 0.001 0.003 0 0 1 1 0 0 0 0 0 0 218861 chr8 10466498 10466498 C A RP1L1 Stop gain E1704X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 218862 chr1 228547412 228547412 A G OBSCN Synonymous SNV L6273L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.917 218863 chr8 10480165 10480165 C T rs115126172 RP1L1 Nonsynonymous SNV G183S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 10.73 218864 chrX 153070590 153070590 G A rs372289663 PDZD4 Synonymous SNV L133L 0.002 0 0 0 2 0 0 0 1 0 0 0 0.04 218865 chr15 89424691 89424691 C A rs78894646 HAPLN3 Synonymous SNV S130S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 218866 chr1 981933 981933 G A rs775442981 AGRN Nonsynonymous SNV R1023Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.591 218867 chr11 33566811 33566811 G A KIAA1549L Nonsynonymous SNV R1091Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.46 218868 chr1 1361553 1361553 G A TMEM88B Nonsynonymous SNV G16S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.972 218869 chr15 92647649 92647649 G A rs367922921 SLCO3A1 Nonsynonymous SNV A296T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.77 218870 chr15 93043832 93043832 A T C15orf32 0 0 0.003 0 0 0 0 1 0 0 0 0 5.937 218871 chr1 244724277 244724277 C T rs73115417 CATSPERE Nonsynonymous SNV T295I 0.003 0 0.007 0 4 0 0 2 0 0 0 0 1.39 218872 chr1 1956399 1956399 C T rs79685811 GABRD Synonymous SNV G29G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 12.36 218873 chr1 245850610 245850610 T G rs142809905 KIF26B Nonsynonymous SNV L1442R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 218874 chr3 112989642 112989654 CCACAGGTAACTA - BOC G175Afs*2 0.004 0 0 3 5 0 0.008 0 0 0 0 0 218875 chr11 40137390 40137390 C T rs748823305 LRRC4C Synonymous SNV K151K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.511 218876 chr16 11348745 11348745 G A rs767204015 SOCS1 Synonymous SNV N197N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.184 218877 chr11 47605920 47605920 C G rs780781060 NDUFS3 Nonsynonymous SNV Q228E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 218878 chr1 9796030 9796030 G A rs376403943 CLSTN1 Synonymous SNV L530L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 218879 chr1 11766739 11766739 C T rs774730602 DRAXIN Nonsynonymous SNV R142C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 218880 chr16 21261145 21261145 C T rs75187531 ANKS4B Synonymous SNV N86N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.138 218881 chr16 21261345 21261345 T C rs202125429 ANKS4B Nonsynonymous SNV L153P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 218882 chr8 144919607 144919607 G A rs565981510 NRBP2 Nonsynonymous SNV R350W 0.002 0 0 0 2 0 0 0 0 0 0 0 27 218883 chr8 145004446 145004446 G A rs202135215 PLEC Synonymous SNV D812D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.753 218884 chr1 16262398 16262398 A G rs756288826 SPEN Synonymous SNV P3221P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.386 218885 chr1 16719780 16719780 C T rs755103291 SZRD1 Synonymous SNV P53P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.97 218886 chr16 28878001 28878001 G A SH2B1 Nonsynonymous SNV G196R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 218887 chr22 19470305 19470305 C T rs11912776 CDC45 Synonymous SNV D99D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.38 218888 chr22 19511476 19511476 G A rs34379045 CLDN5 Synonymous SNV G186G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.8 218889 chr8 145168700 145168700 G C rs556725162 WDR97 Nonsynonymous SNV K1108N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.024 218890 chr22 20940100 20940100 G A rs759002802 MED15 Synonymous SNV R628R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.922 218891 chr16 30544067 30544067 C A rs115499189 ZNF747 Nonsynonymous SNV R250L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 218892 chr2 27263237 27263237 G A rs201036749 TMEM214 Nonsynonymous SNV V561M 0.002 0 0 0 2 0 0 0 0 0 0 0 16.32 218893 chr2 27439476 27439476 G A rs757188443 ATRAID Synonymous SNV K191K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.16 218894 chr2 29117711 29117711 C T rs752267454 WDR43 Synonymous SNV H49H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.035 218895 chr6 15533575 15533575 T A rs764648832 DTNBP1 Nonsynonymous SNV Q153L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 218896 chr22 28394509 28394509 C G rs1045950735 TTC28-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.369 218897 chr8 20069216 20069216 A G rs139800942 ATP6V1B2 Synonymous SNV V219V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 218898 chr22 30683409 30683409 G T CASTOR1 Nonsynonymous SNV H109N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 218899 chr22 30782620 30782620 C T rs765985650 RNF215 Synonymous SNV K138K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.08 218900 chr16 50106602 50106602 A G rs145732474 HEATR3 Nonsynonymous SNV N200S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 218901 chr1 26349220 26349220 C G rs138085133 EXTL1 Nonsynonymous SNV S28C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 218902 chr22 31285593 31285593 C T rs779497059 OSBP2 Synonymous SNV I75I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.48 218903 chr16 53256622 53256622 T C rs771604673 CHD9 Synonymous SNV D617D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.369 218904 chr6 26156930 26156930 C T rs146998803 H1-4 Synonymous SNV S104S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 4.853 218905 chr6 26189247 26189247 G A H4C4 Nonsynonymous SNV R20C 0 0 0 3 0 0 0.008 0 0 0 0 0 24.4 218906 chr6 26285433 26285433 A - rs749821721 H4C8 Y99Tfs*26 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 218907 chr16 56652551 56652551 G A rs61749317 MT1L 0 0 0.01 0 0 0 0 3 0 0 0 0 5.454 218908 chr3 169502429 169502429 C T rs776032547 MYNN Synonymous SNV C501C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.36 218909 chr6 27101221 27101221 A G rs759645494 H2AC11 Nonsynonymous SNV H124R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.41 218910 chr3 172048504 172048504 A G rs768743506 FNDC3B Nonsynonymous SNV N518S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.308 218911 chr3 172365746 172365746 C G rs149025248 NCEH1 Synonymous SNV P99P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.106 218912 chr6 35389703 35389703 A T PPARD Nonsynonymous SNV Q92L 0 0 0 3 0 0 0.008 0 0 0 0 0 26.9 218913 chr6 35544831 35544831 G C FKBP5 Nonsynonymous SNV N402K 0 0 0 3 0 0 0.008 0 0 0 0 0 11.57 218914 chr16 58552045 58552045 C G rs148482512 SETD6 Nonsynonymous SNV H295D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.4 218915 chr16 66770118 66770118 G T DYNC1LI2 Nonsynonymous SNV P110T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 218916 chr16 67304752 67304752 C T rs190492342 SLC9A5 Nonsynonymous SNV R652W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 218917 chr6 37414127 37414127 A G CMTR1 Nonsynonymous SNV I116V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 218918 chr3 183882102 183882102 T G rs779764964 DVL3 Synonymous SNV A93A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.3 218919 chr3 183911446 183911446 C A rs191518353 ABCF3 Nonsynonymous SNV A691D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 218920 chr1 35454473 35454473 C G rs61741445 ZMYM6 Nonsynonymous SNV R737T 0 0.005 0 0 0 2 0 0 0 0 0 0 11.91 218921 chr3 184099598 184099598 C T rs769025130 CHRD Synonymous SNV Y202Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.31 218922 chr3 185252600 185252600 - CTTACTAGAGGCATGGGTATATATTAAAGTTGTAGCTCCTCGATTCCAATCAACAACAACTACGTTCATGTCTTCAACAGAGAGCAAACC LIPH K123_T124insGLLSVEDMNVVVVDWNRGATTLIYTHASSK 0 0 0 1 0 0 0.003 0 0 0 0 0 218923 chr8 51314839 51314839 A G SNTG1 Nonsynonymous SNV K33E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 218924 chr2 70408806 70408806 C T rs150286178 C2orf42 Synonymous SNV G104G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.32 218925 chr16 75589886 75589886 G A rs201518524 TMEM231 Nonsynonymous SNV A95V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 22.3 218926 chr22 44004396 44004396 G A rs369786858 EFCAB6 Nonsynonymous SNV L731F 0.001 0 0 0 1 0 0 0 0 0 0 0 27 218927 chr16 81208348 81208348 G T rs745211 PKD1L2 Nonsynonymous SNV L234M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 218928 chr16 81208473 81208473 G T rs115666278 PKD1L2 Nonsynonymous SNV A192D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 218929 chr16 81209355 81209355 C A rs114807875 PKD1L2 Nonsynonymous SNV G128V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 218930 chr6 131996255 131996255 C T rs200254628 ENPP3 Synonymous SNV A266A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.18 218931 chr2 75278553 75278553 C T rs17838409 TACR1 Nonsynonymous SNV V253M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 218932 chr6 49580156 49580156 C T RHAG Nonsynonymous SNV G300E 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 218933 chr16 839284 839284 C T rs772314979 CHTF18 Nonsynonymous SNV P121S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 218934 chr16 83933142 83933142 C T rs560831102 MLYCD Synonymous SNV Y131Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.14 218935 chr6 133105182 133105182 G A rs373886750 SLC18B1 Nonsynonymous SNV P183L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 218936 chr16 84193318 84193318 G C rs112051327 DNAAF1 Nonsynonymous SNV Q8H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 218937 chr6 133789765 133789765 C T rs41286200 EYA4 Nonsynonymous SNV T235M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 218938 chr1 46290240 46290240 A G rs371442168 MAST2 Nonsynonymous SNV S105G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 218939 chr6 54003012 54003012 - ACAAGG MLIP T707_E708insRT 0 0 0 1 0 0 0.003 0 0 0 0 0 218940 chr11 59224717 59224717 A G rs371983092 OR4D6 Nonsynonymous SNV N95S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.549 218941 chr16 84270565 84270565 - CCAGCTCCT rs376434762 KCNG4 L175_A176insEEL 0.002 0 0.007 0 2 0 0 2 0 0 0 0 218942 chr8 8749644 8749644 T A rs759905998 MFHAS1 Nonsynonymous SNV T309S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.531 218943 chr16 847874 847874 C T rs192867893 CHTF18 Nonsynonymous SNV R943C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.32 218944 chr2 97527138 97527138 G C rs149174129 SEMA4C Nonsynonymous SNV P576R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 218945 chr22 50512705 50512705 G T rs41302601 MLC1 Nonsynonymous SNV N218K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 25 218946 chr6 70990577 70990577 C G rs771224883 COL9A1 Nonsynonymous SNV G62R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 218947 chr1 51929454 51929454 T C rs147146180 EPS15 Nonsynonymous SNV K131R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 218948 chr2 99778712 99778712 C G rs137973334 LIPT1 Nonsynonymous SNV R98G 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 26.4 218949 chr6 74310129 74310129 A G rs200632199 SLC17A5 Nonsynonymous SNV F432S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.2 218950 chr6 74517915 74517915 G T CD109 Nonsynonymous SNV G1023V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 218951 chr9 104323402 104323402 C T rs146289816 RNF20 Nonsynonymous SNV L847F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.1 218952 chrX 2779702 2779702 C T rs752410028 GYG2 Nonsynonymous SNV P171L 0.002 0.005 0 0 2 2 0 0 1 1 0 0 0.116 218953 chr11 62010949 62010949 G A SCGB1D2 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 218954 chr1 55643722 55643722 C T rs570363729 USP24 Synonymous SNV L136L 0 0.005 0 0 0 2 0 0 0 0 0 0 12.61 218955 chr1 59004599 59004599 T C rs200793257 OMA1 Nonsynonymous SNV H123R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 218956 chr2 109463295 109463295 G A rs182576096 CCDC138 Synonymous SNV E431E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.268 218957 chr16 89347372 89347372 G A rs144516367 ANKRD11 Nonsynonymous SNV P1860S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 22.5 218958 chr9 112042126 112042126 G T EPB41L4B Nonsynonymous SNV L128I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 218959 chrX 18671574 18671574 C T rs36022183 CDKL5 Synonymous SNV H1001H 0.002 0 0 0 2 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 9.888 218960 chr11 63327561 63327561 C T rs747996623 PLAAT2 Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 218961 chrX 18671655 18671655 G A rs139155110 CDKL5 Synonymous SNV T1028T 0.002 0 0 0 2 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 7.797 218962 chrX 20043869 20043869 C T rs753526319 MAP7D2 Synonymous SNV K317K 0.002 0 0 0 2 0 0 0 1 0 0 0 11.71 218963 chrX 24024547 24024547 A G KLHL15 Synonymous SNV F88F 0.002 0 0 0 2 0 0 0 1 0 0 0 0.003 218964 chr3 44835742 44835742 G A rs758022463 KIF15 Nonsynonymous SNV A225T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 218965 chr11 64602560 64602560 C T rs141739556 CDC42BPG Synonymous SNV T673T 0.004 0.005 0 0 5 2 0 0 0 0 0 0 16.33 218966 chr6 124604275 124604275 G A rs145724320 NKAIN2 Nonsynonymous SNV R60H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 218967 chr3 49052281 49052281 C G WDR6 Nonsynonymous SNV L950V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 218968 chrX 105905447 105905447 G A rs759079297 RADX Synonymous SNV A630A 0.002 0 0 0 2 0 0 0 1 0 0 0 6.594 218969 chrX 106113996 106113996 C T rs34694710 TBC1D8B Nonsynonymous SNV L974F 0.002 0 0 0 2 0 0 0 1 0 0 0 24.9 218970 chr2 145157427 145157427 T C rs763297068 ZEB2 Nonsynonymous SNV M419V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 218971 chr2 148696752 148696752 - G rs750853397 ORC4 Frameshift insertion S222Kfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 218972 chr11 65788096 65788096 C T rs766294676 CATSPER1 Nonsynonymous SNV A644T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 218973 chr3 49929219 49929219 T C MST1R Synonymous SNV R1002R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.072 218974 chr3 52431825 52431825 G A rs373632520 DNAH1 Nonsynonymous SNV A3964T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.81 218975 chr6 142400021 142400021 G C rs148202124 NMBR Nonsynonymous SNV P148A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.5 218976 chr2 159459601 159459601 C T rs141436976 PKP4 Nonsynonymous SNV P89S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 218977 chr2 159481864 159481864 G T rs147567711 PKP4 Nonsynonymous SNV D360Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 218978 chr9 126129902 126129902 A C CRB2 Nonsynonymous SNV N331H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.314 218979 chr2 159481865 159481865 A G rs147809285 PKP4 Nonsynonymous SNV D360G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 218980 chr9 126133606 126133606 G C CRB2 Nonsynonymous SNV V729L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 218981 chr17 25639374 25639374 G A rs142527784 WSB1 Synonymous SNV E269E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 218982 chrX 136649012 136649012 T C rs62637689 ZIC3 Synonymous SNV A54A 0.002 0 0 2 2 0 0.005 0 1 0 0 1 Benign 0.012 218983 chr9 127620275 127620275 G T rs192683197 RPL35 Nonsynonymous SNV H98Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.6 218984 chrX 140995489 140995489 C T rs369233356 MAGEC1 Nonsynonymous SNV P767S 0.002 0 0 0 2 0 0 0 1 0 0 0 15.23 218985 chr9 128088742 128088742 C T rs144122272 GAPVD1 Nonsynonymous SNV R615C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 218986 chr9 130164854 130164854 G A rs368577788 SLC2A8 Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 218987 chr17 27013720 27013720 G C SUPT6H Synonymous SNV L871L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 218988 chr2 165561493 165561493 C T rs138711091 COBLL1 Synonymous SNV P373P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.94 218989 chr2 166615295 166615295 C G GALNT3 Nonsynonymous SNV E385Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 218990 chrX 152735960 152735960 T G HAUS7 Nonsynonymous SNV E29A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.501 218991 chrX 153033221 153033221 G A rs782172006 PLXNB3 Synonymous SNV A313A 0.002 0 0 0 2 0 0 0 1 0 0 0 1.214 218992 chr9 131246996 131246996 G A rs1031002229 ODF2 Nonsynonymous SNV G293E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 218993 chr11 74459991 74459991 G A rs545344016 RNF169 Synonymous SNV R22R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.231 218994 chr9 133928326 133928326 G A rs148563273 LAMC3 Nonsynonymous SNV R638H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.422 218995 chr6 166720983 166720983 G A rs151246255 PRR18 Synonymous SNV H216H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.695 218996 chr11 76915150 76915150 T A rs374576916 MYO7A Nonsynonymous SNV S1786T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.53 218997 chr1 3413917 3413917 G A rs370790156 MEGF6 Nonsynonymous SNV R1121W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 218998 chr11 77672087 77672087 C A rs148175971 INTS4 Nonsynonymous SNV G190V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 218999 chr1 5926432 5926432 C T rs756111113 NPHP4 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 24.4 219000 chr1 117560059 117560059 T C rs375022404 CD101 Nonsynonymous SNV W526R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 219001 chr9 137005032 137005032 G T rs140529940 WDR5 Nonsynonymous SNV E11D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.294 219002 chr4 106621112 106621112 T C INTS12 Synonymous SNV L17L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.083 219003 chr9 137979962 137979962 G A OLFM1 Nonsynonymous SNV G43R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 219004 chr17 39458132 39458132 C T KRTAP29-1 Synonymous SNV P324P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.615 219005 chr2 191301036 191301036 A G MFSD6 Nonsynonymous SNV K94R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 219006 chr1 151105426 151105426 C A SEMA6C Nonsynonymous SNV G768V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 219007 chr1 11105561 11105561 G C rs199940649 MASP2 Nonsynonymous SNV P150A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.395 219008 chr1 11810157 11810157 C T rs142297789 AGTRAP Nonsynonymous SNV P111L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.9 219009 chr9 139837236 139837236 C T rs138491092 FBXW5 Nonsynonymous SNV A171T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 219010 chr9 139915340 139915340 G A rs199700897 ABCA2 Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 219011 chr9 140083584 140083584 A G SSNA1 Nonsynonymous SNV K40R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 219012 chr9 140160848 140160848 C T rs145518865 NELFB Synonymous SNV I403I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 219013 chr17 40693203 40693203 G A rs749140168 NAGLU Nonsynonymous SNV V334I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 219014 chr1 15546187 15546187 C T rs149796066 TMEM51 Nonsynonymous SNV P237L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 219015 chr11 64387769 64387769 T C rs567627566 NRXN2 Nonsynonymous SNV T371A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.26 219016 chr2 205986367 205986367 G A rs770492830 PARD3B Nonsynonymous SNV V287M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 219017 chr7 8791273 8791273 C G rs757071991 NXPH1 Synonymous SNV L230L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.489 219018 chr9 140470549 140470549 G A rs145464883 DPH7 Nonsynonymous SNV R120C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 219019 chr17 41601081 41601081 G A DHX8 Nonsynonymous SNV A1086T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 219020 chr17 41601082 41601082 C G DHX8 Nonsynonymous SNV A1086G 0 0 0.003 0 0 0 0 1 0 0 0 0 34 219021 chr11 65383872 65383872 C T rs764001721 PCNX3 Synonymous SNV F30F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.25 219022 chr9 21026598 21026598 C A rs749679223 HACD4 Nonsynonymous SNV L89F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 219023 chr7 23240353 23240353 C A rs180753026 NUP42 Nonsynonymous SNV L418I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.5 219024 chr7 30921808 30921808 C G rs376244311 MINDY4 Nonsynonymous SNV L662V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 219025 chr11 68773683 68773683 A T rs369370363 MRGPRF Nonsynonymous SNV F32Y 0.003 0 0 0 3 0 0 0 0 0 0 0 21.6 219026 chr17 48745231 48745231 T A rs144520783 ABCC3 Nonsynonymous SNV L548Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 219027 chr12 113447012 113447012 G T rs916974 OAS2 Synonymous SNV G672G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 5.299 219028 chr12 113737723 113737723 G C rs34833012 SLC8B1 Synonymous SNV L482L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.28 219029 chr1 27180248 27180248 G A rs145327536 ZDHHC18 Nonsynonymous SNV D361N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 219030 chr17 56676669 56676669 C G rs749226966 TEX14 Nonsynonymous SNV E685D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 219031 chr9 74319552 74319552 C T rs143044230 CEMIP2 Synonymous SNV P988P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 219032 chr1 169497321 169497321 T A rs138877178 F5 Nonsynonymous SNV M1811L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.45 219033 chr1 33246703 33246703 C G YARS Nonsynonymous SNV E362D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.6 219034 chr17 6387600 6387600 C T rs199749069 PITPNM3 Nonsynonymous SNV R60Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 219035 chr1 35259937 35259937 C T rs745804407 GJA4 Synonymous SNV G41G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.71 219036 chr1 35454115 35454115 A G rs61745582 ZMYM6 Synonymous SNV Y856Y 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.001 219037 chr2 234738296 234738296 A G rs936232212 MROH2A Nonsynonymous SNV I1495V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 219038 chr1 35580283 35580285 ATA - rs397862538 ZMYM1 N877del 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 219039 chr1 35906688 35906688 C T rs141395302 KIAA0319L Synonymous SNV T974T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.62 219040 chr1 36054136 36054136 G A rs138447850 TFAP2E Synonymous SNV L256L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.14 219041 chr1 36306901 36306901 C T rs142753498 AGO4 Synonymous SNV T620T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.78 219042 chr1 36521340 36521340 C T rs61743816 AGO3 Synonymous SNV F625F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.13 219043 chr1 36551495 36551495 T C rs419653 TEKT2 Nonsynonymous SNV I114T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.97 219044 chr2 237374170 237374170 G A rs149890791 IQCA1 Nonsynonymous SNV R302W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 219045 chr1 37980300 37980300 C A rs145579568 MEAF6 Synonymous SNV R16R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 219046 chr9 96019309 96019309 C T rs762929680 WNK2 Nonsynonymous SNV P757L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 219047 chr1 40961667 40961667 A G rs116699307 ZFP69 Nonsynonymous SNV Y507C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 219048 chr12 132633421 132633421 C A NOC4L Synonymous SNV L294L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.566 219049 chr1 183105653 183105653 C T rs148395845 LAMC1 Nonsynonymous SNV A1416V 0 0.005 0 0 0 2 0 0 0 0 0 0 21.5 219050 chr7 75912013 75912013 C T SRRM3 Nonsynonymous SNV S473F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 219051 chrX 107464600 107464600 C T rs910395079 COL4A6 Nonsynonymous SNV R50Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 219052 chr2 242138779 242138779 G A rs145166809 ANO7 Nonsynonymous SNV A120T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.5 219053 chr1 185964205 185964205 C T rs201379680 HMCN1 Nonsynonymous SNV T1255M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 219054 chr17 72838966 72838966 C T rs867464701 GRIN2C Nonsynonymous SNV A1104T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.229 219055 chr1 44440728 44440728 C T ATP6V0B Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 219056 chr4 39217538 39217538 C T rs201958863 WDR19 Synonymous SNV L187L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.45 219057 chr4 39450150 39450150 G A rs770331996 KLB Synonymous SNV Q993Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.192 219058 chr17 72948130 72948130 G A rs145666436 HID1 Nonsynonymous SNV R725W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 219059 chrX 130415280 130415280 C T rs758546152 IGSF1 Nonsynonymous SNV A511T 0.003 0 0 0 4 0 0 0 1 0 0 0 11.83 219060 chr7 92734680 92734680 T C rs377645651 SAMD9 Nonsynonymous SNV H244R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 219061 chr3 10146211 10146211 T C rs898392610 FANCD2OS Nonsynonymous SNV N83S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 219062 chr1 201459373 201459373 T G CSRP1 Nonsynonymous SNV Y71S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 219063 chr4 57215676 57215676 C T rs147133663 AASDH Synonymous SNV A262A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.84 219064 chr17 7657817 7657817 A G rs7224896 RPL29P2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.843 219065 chr17 76967703 76967703 C T rs769112074 LGALS3BP Synonymous SNV T571T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 219066 chr17 7752560 7752560 G A rs756964794 KDM6B Nonsynonymous SNV R985Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 219067 chr1 57383357 57383357 C T rs41285938 C8A Nonsynonymous SNV P575S 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 5.579 219068 chr3 28304801 28304801 C T rs139180372 CMC1 Synonymous SNV V13V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.87 219069 chr3 32030680 32030680 G C rs182953156 ZNF860 Nonsynonymous SNV E37Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 219070 chrX 3002419 3002419 C T rs182964743 ARSF Nonsynonymous SNV T181M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.937 219071 chr1 84876625 84876625 C T rs756099350 DNASE2B Stop gain R164X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 219072 chr3 43389604 43389604 A G rs766369522 SNRK Nonsynonymous SNV N412S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 219073 chr17 8224195 8224195 C T ARHGEF15 Stop gain Q804X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 219074 chr3 45874558 45874558 G A LZTFL1 Nonsynonymous SNV A147V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 219075 chrX 71351205 71351205 G C rs200101086 RTL5 Synonymous SNV P62P 0.001 0 0.014 0 1 0 0 4 0 0 2 0 8.261 219076 chr1 223962552 223962552 T C rs184347397 CAPN2 Nonsynonymous SNV V621A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 219077 chr1 225156549 225156549 G A rs569064359 DNAH14 Nonsynonymous SNV R197Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.15 219078 chrX 75649644 75649644 G A MAGEE1 Nonsynonymous SNV A441T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.137 219079 chrX 84363016 84363016 C T rs111389700 SATL1 Nonsynonymous SNV G320D 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.014 219080 chrX 84363031 84363031 C T rs145801638 SATL1 Nonsynonymous SNV G315D 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.119 219081 chr18 23866252 23866252 C T rs150687744 TAF4B Nonsynonymous SNV T460I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 219082 chrX 84363033 84363033 A G rs141720324 SATL1 Synonymous SNV P314P 0.002 0.005 0 0 2 2 0 0 0 1 0 0 0.059 219083 chr7 101882820 101882820 C T CUX1 Synonymous SNV L1292L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 219084 chr3 49063782 49063782 A G IMPDH2 Synonymous SNV S327S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.857 219085 chrX 85119795 85119795 T C rs145877269 CHM Nonsynonymous SNV N601S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.209 219086 chr7 102107891 102107891 G A rs758350510 LRWD1 Nonsynonymous SNV G28R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 219087 chr18 28666580 28666580 T C rs576466497 DSC2 Nonsynonymous SNV T301A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 219088 chr7 103191670 103191670 G A rs374232523 RELN Nonsynonymous SNV A2049V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.9 219089 chr18 31320099 31320099 G A rs201107680 ASXL3 Nonsynonymous SNV V911M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.927 219090 chr12 130649086 130649086 G A FZD10 Synonymous SNV Q533Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.002 219091 chr3 52256356 52256356 C T rs765355058 TLR9 Nonsynonymous SNV R659H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.747 219092 chr10 104127241 104127241 C T rs776595449 GBF1 Nonsynonymous SNV R856C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 219093 chr1 110086283 110086283 T A rs761509165 GPR61 Synonymous SNV A213A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 219094 chr1 110460079 110460079 T C rs766652122 CSF1 Synonymous SNV H130H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.011 219095 chr18 3534313 3534313 C T rs778230876 DLGAP1 Synonymous SNV R484R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 219096 chr18 3597005 3597005 C A rs760792524 DLGAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.532 219097 chr18 42532011 42532011 G A rs113916801 SETBP1 Synonymous SNV P902P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.757 219098 chr12 56110773 56110773 G A rs150789356 BLOC1S1 Nonsynonymous SNV D68N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219099 chr12 56547726 56547726 C T rs773550686 MYL6B Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 219100 chr10 1070621 1070621 G A rs149741269 IDI2 Stop gain Q15X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 219101 chr1 230903451 230903451 T C rs28359644 CAPN9 Nonsynonymous SNV I171T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 219102 chr5 110408595 110408595 A G rs199671638 TSLP Nonsynonymous SNV T61A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.37 219103 chr7 23349140 23349140 C T rs147835768 MALSU1 Nonsynonymous SNV P228L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 219104 chr12 21471732 21471732 A G rs11568568 SLCO1A2 Synonymous SNV N62N 0.004 0 0 0 5 0 0 0 0 0 0 0 6.568 219105 chr5 115823863 115823863 C T SEMA6A Nonsynonymous SNV G229R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 219106 chr7 140035155 140035155 G A rs372795507 SLC37A3 Stop gain R326X 0 0 0 1 0 0 0.003 0 0 0 0 0 3.86 219107 chr5 118969821 118969821 G A rs201058626 FAM170A Nonsynonymous SNV M79I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 219108 chr7 25176127 25176127 A G rs753729189 C7orf31 Nonsynonymous SNV S413P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 219109 chr1 241665784 241665784 T C FH Nonsynonymous SNV S399G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.8 219110 chr7 27135251 27135251 C G HOXA1 Nonsynonymous SNV S94T 0 0 0 2 0 0 0.005 0 0 0 0 0 1.506 219111 chr1 242162123 242162123 T A rs779528763 MAP1LC3C Nonsynonymous SNV Q23H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 219112 chr7 143096797 143096797 C T rs201209720 EPHA1 Nonsynonymous SNV R261Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.34 219113 chr7 29186215 29186215 A G rs770946319 CHN2 Nonsynonymous SNV R6G 0 0 0 2 0 0 0.005 0 0 0 0 0 4.748 219114 chr1 151260373 151260373 C T ZNF687 Synonymous SNV L536L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 219115 chr5 130769319 130769319 T G rs746790666 RAPGEF6 Nonsynonymous SNV N1260H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 219116 chr5 131247506 131247506 A G rs572027452 MEIKIN 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 219117 chr1 152484337 152484337 C T rs1056328479 LCE5A Synonymous SNV G109G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.31 219118 chr18 72776307 72776307 C T rs769928265 ZNF407 Synonymous SNV A2210A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 219119 chr1 153661664 153661664 C G rs770343388 NPR1 Nonsynonymous SNV H855Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 219120 chr5 137226241 137226245 TACTT - rs537075402 PKD2L2 I37Ffs*35 0 0 0 1 0 0 0.003 0 0 0 0 0 219121 chr1 154234142 154234142 G A rs138401687 UBAP2L Synonymous SNV P957P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 219122 chr1 154437632 154437632 C T rs141102401 IL6R Nonsynonymous SNV R395W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 219123 chr1 154573926 154573926 T C rs371050239 ADAR Nonsynonymous SNV N103D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.058 219124 chr12 48191262 48191262 G A rs144718030 HDAC7 Nonsynonymous SNV T144M 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Likely benign 25.1 219125 chr1 155920887 155920887 C A rs373698653 ARHGEF2 Synonymous SNV A812A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 219126 chr12 88479920 88479920 G C CEP290 Nonsynonymous SNV P1445A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 219127 chr19 10334601 10334601 T C rs146709827 S1PR2 Synonymous SNV P327P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 219128 chr5 140433506 140433506 T C PCDHB1 Synonymous SNV Y817Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.362 219129 chr19 10475332 10475332 C T rs2304254 TYK2 Nonsynonymous SNV R442Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 219130 chr1 156640966 156640966 T A rs372398680 NES Nonsynonymous SNV E1005V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 219131 chr12 49690245 49690246 GA - rs768401768 PRPH E213Tfs*6 0.003 0.003 0 0 4 1 0 0 0 0 0 0 219132 chr2 11810023 11810023 G A rs757217578 NTSR2 Nonsynonymous SNV A78V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 219133 chr1 157737149 157737149 G A rs751304194 FCRL2 Nonsynonymous SNV S345L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 219134 chr1 158325110 158325110 T C rs372604966 CD1E Synonymous SNV L27L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.181 219135 chr1 158595973 158595973 G T SPTA1 Nonsynonymous SNV A1958E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 219136 chr19 11534694 11534694 T G CCDC151 Nonsynonymous SNV H263P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 219137 chr8 10467574 10467574 T C rs536910156 RP1L1 Nonsynonymous SNV E1345G 0 0 0 2 0 0 0.005 0 0 0 0 1 8.757 219138 chr19 12384010 12384010 T G rs765044571 ZNF44 Nonsynonymous SNV I322L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 11.53 219139 chr13 100622668 100622679 GGCGGCGGCGGC - rs767376056 ZIC5 P421_P424del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 219140 chr13 102047664 102047664 C G NALCN Nonsynonymous SNV C54S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 219141 chr19 14515368 14515368 C T rs45466292 ADGRE5 Synonymous SNV D448D 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 10.28 219142 chr3 130653517 130653517 T G ATP2C1 Nonsynonymous SNV L91V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 219143 chr1 161069370 161069370 C T KLHDC9 Nonsynonymous SNV S230F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.721 219144 chr1 162270463 162270463 G A rs41271967 NOS1AP Nonsynonymous SNV S99N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.45 219145 chr1 162302846 162302846 C T rs41271969 NOS1AP Synonymous SNV I123I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.06 219146 chr10 402390 402390 G C rs114855069 DIP2C Nonsynonymous SNV I987M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.097 219147 chr8 21977933 21977933 C T rs367558699 HR Nonsynonymous SNV A900T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.013 219148 chr1 171033286 171033286 G T rs763102954 MROH9 Nonsynonymous SNV L797F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.71 219149 chr10 465012 465012 G A rs147744132 DIP2C Synonymous SNV T244T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.456 219150 chr19 1615716 1615716 T C rs199682849 TCF3 Nonsynonymous SNV K519E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 219151 chr13 115089808 115089808 C G CHAMP1 Nonsynonymous SNV S164C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 219152 chr19 17387698 17387698 G A rs199960321 BABAM1 Nonsynonymous SNV E181K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 219153 chr19 17412101 17412101 C A rs772333400 ABHD8 Nonsynonymous SNV G109C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 219154 chr1 177906353 177906353 G A rs60742235 CRYZL2P-SEC16B, SEC16B Synonymous SNV G492G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.609 219155 chr1 177930864 177930864 T A rs56212473 CRYZL2P-SEC16B, SEC16B Synonymous SNV S216S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.288 219156 chr1 178412352 178412352 T A rs151225646 RASAL2 Synonymous SNV T342T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 219157 chr1 178821840 178821840 G A rs34483360 ANGPTL1 Synonymous SNV D422D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.105 219158 chr1 179077558 179077558 G A rs35124879 ABL2 Synonymous SNV L927L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.997 219159 chr1 179310258 179310258 T G rs111426580 SOAT1 Nonsynonymous SNV V140G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 219160 chr3 160135522 160135522 A G rs748849121 SMC4 Synonymous SNV K483K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.926 219161 chr1 179783045 179783045 C T rs34999790 FAM163A Synonymous SNV S75S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 219162 chr2 43937690 43937690 A G rs754082950 PLEKHH2 Synonymous SNV R759R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.631 219163 chr1 180023577 180023577 T C rs199961080 CEP350 Synonymous SNV D1734D 0.003 0 0 0 3 0 0 0 0 0 0 0 5.774 219164 chr13 29598842 29598842 G A rs117237504 MTUS2 Nonsynonymous SNV V3I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.519 219165 chr13 29933413 29933413 A C MTUS2 Synonymous SNV R974R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 219166 chr8 27516360 27516360 T C rs139834620 SCARA3 Nonsynonymous SNV F225L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 219167 chr10 55566438 55566438 C T rs74609306 PCDH15 Synonymous SNV K1643K 0.005 0.008 0.007 2 6 3 0.005 2 0 0 0 0 Benign 11.2 219168 chr19 18562388 18562388 G C rs759973204 ELL Nonsynonymous SNV R314G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 219169 chr5 169461445 169461445 G A rs747886113 DOCK2 Synonymous SNV S1170S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.658 219170 chr19 18775086 18775086 C T rs747808177 KLHL26 Synonymous SNV N33N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.956 219171 chr3 171969188 171969188 G A FNDC3B Nonsynonymous SNV S216N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 219172 chr13 32971139 32971139 G C rs755890067 BRCA2 Synonymous SNV P3202P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.319 219173 chr1 186277121 186277144 CTGCTCCAACTACCCCTAAGGAGC - rs748927980 PRG4 E638_K645del 0.001 0 0 0 1 0 0 0 0 0 0 0 219174 chr1 186649413 186649413 G C rs200140544 PTGS2 Nonsynonymous SNV R4G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 219175 chr19 23406164 23406164 A C ZNF724 Nonsynonymous SNV S295A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 219176 chr3 182635845 182635845 G A rs755654195 ATP11B Nonsynonymous SNV D1163N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 219177 chr19 2852843 2852843 A G ZNF555 Synonymous SNV E259E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 219178 chr19 31770506 31770506 C T rs111618794 TSHZ3 Nonsynonymous SNV A65T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 17.24 219179 chr1 201751714 201751714 C T rs142676871 NAV1 Nonsynonymous SNV R301C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 219180 chr1 201869675 201869675 G A rs369116037 LMOD1 Nonsynonymous SNV R156W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 219181 chr8 72755785 72755785 G A rs552001428 MSC-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.25 219182 chr13 74269760 74269760 G A KLF12 Nonsynonymous SNV A359V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 219183 chr5 34944975 34944983 GAAGAATCA - DNAJC21 M329_H332delinsI 0 0 0 2 0 0 0.005 0 0 0 0 0 219184 chr10 82122269 82122269 G T rs115489921 DYDC2 Nonsynonymous SNV V24F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 219185 chr19 36342415 36342415 G A rs752777463 NPHS1 Nonsynonymous SNV P73L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 219186 chr19 37047073 37047073 G A rs1041784200 ZNF529 Nonsynonymous SNV A14V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.17 219187 chr10 90490867 90490867 C A rs555551888 LIPK Nonsynonymous SNV N117K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 219188 chr3 195954545 195954545 T C SLC51A Nonsynonymous SNV V100A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 219189 chr19 3810827 3810827 A G ZFR2 Nonsynonymous SNV L785P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 219190 chr19 38189512 38189512 C T rs753162200 ZNF607 Nonsynonymous SNV C506Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 219191 chr1 210415364 210415364 A G rs543120162 SERTAD4 Synonymous SNV A251A 0.003 0 0 0 3 0 0 0 0 0 0 0 1.263 219192 chr2 101192912 101192912 G A rs888205964 PDCL3 Nonsynonymous SNV R225Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 219193 chr4 527670 527670 G A rs780094078 PIGG Nonsynonymous SNV V746M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.64 219194 chr5 55192243 55192243 C T rs768209580 IL31RA Nonsynonymous SNV R261W 0 0 0 1 0 0 0.003 0 0 0 0 0 15.58 219195 chr10 97515455 97515455 A G ENTPD1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.137 219196 chr1 215972434 215972434 C T rs767694082 USH2A Nonsynonymous SNV R3258Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 219197 chr2 110322047 110322047 C T SEPTIN10 Synonymous SNV E118E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 219198 chr5 61669558 61669558 G A rs139442261 KIF2A Nonsynonymous SNV R545H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 219199 chr8 144941204 144941204 C T rs200500117 EPPK1 Nonsynonymous SNV R2073H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.502 219200 chr19 42855426 42855426 G A MEGF8 Nonsynonymous SNV R865Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 219201 chr19 4318476 4318476 G A rs771043092 FSD1 Synonymous SNV T311T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 219202 chr4 5018644 5018644 C T rs56264174 CYTL1 Synonymous SNV P82P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 11.27 219203 chr1 225555683 225555683 C T rs560813479 DNAH14 Synonymous SNV Y4089Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 219204 chr1 225567870 225567870 G T rs74517776 DNAH14 Nonsynonymous SNV Q4242H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 219205 chr4 6055744 6055744 G A rs376169499 JAKMIP1 Synonymous SNV N448N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 219206 chr19 44610887 44610887 C T rs370083464 ZNF224 Nonsynonymous SNV R192C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 219207 chr11 1018713 1018713 C T rs199839694 MUC6 Nonsynonymous SNV R1363H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.417 219208 chr5 80497259 80497259 C G RASGRF2 Synonymous SNV L968L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.708 219209 chr2 155099418 155099418 G A rs200536609 GALNT13 Nonsynonymous SNV R229K 0 0.005 0 0 0 2 0 0 0 0 0 0 22.5 219210 chr8 144995669 144995669 C T rs782359700 PLEC Nonsynonymous SNV V2760I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 219211 chr4 13579075 13579075 G A rs779870948 BOD1L1 Nonsynonymous SNV R2946W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219212 chr19 45579417 45579417 G A rs751994978 ZNF296 Nonsynonymous SNV P72L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.096 219213 chr19 45997474 45997474 C A rs775281770 RTN2 Nonsynonymous SNV C255F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 219214 chr1 234534143 234534143 A G TARBP1 Nonsynonymous SNV S1410P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 219215 chr4 30724287 30724287 A G rs746166500 PCDH7 Nonsynonymous SNV I415V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.89 219216 chr8 145537888 145537888 A G rs782563300 HSF1 Synonymous SNV G495G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.347 219217 chr19 47597779 47597779 C T rs181915310 ZC3H4 Nonsynonymous SNV R83Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 219218 chr2 168100367 168100367 A G rs202211196 XIRP2 Nonsynonymous SNV E600G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 219219 chr5 96329583 96329583 C T rs1009157539 LNPEP Stop gain R439X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 219220 chr19 4852074 4852074 C T rs149440810 PLIN3 Synonymous SNV S196S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.11 219221 chr19 4859887 4859887 C T rs141196203 PLIN3 Synonymous SNV A72A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 219222 chr2 172305264 172305264 G A rs756053962 DCAF17 Nonsynonymous SNV R132H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 219223 chr1 244528040 244528040 G A rs372630882 C1orf100 Nonsynonymous SNV R13H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 219224 chr2 176958235 176958235 A G rs147720746 HOXD13 Nonsynonymous SNV Y206C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.6 219225 chr8 3245191 3245191 C T CSMD1 Synonymous SNV E869E 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.16 219226 chr8 35093342 35093342 G A UNC5D Nonsynonymous SNV A14T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.14 219227 chr11 118106165 118106165 C - rs748224545 MPZL3 K186Sfs*50 0.001 0 0 0 1 0 0 0 0 0 0 0 219228 chr8 38271254 38271254 C T rs200408837 FGFR1 Synonymous SNV T698T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 13.21 219229 chr2 179542499 179542499 - TCAGGTAGAACTTCCTCTTCC rs397517548 TTN E10146_I10147insVLPEEEE 0 0.003 0.007 0 0 1 0 2 0 0 1 0 219230 chr19 50128388 50128388 G A rs150863848 PRR12 Synonymous SNV S1965S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.8 219231 chr19 50399086 50399086 C T rs370391511 IL4I1 Nonsynonymous SNV D80N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 219232 chr11 120833194 120833194 G A rs150174191 GRIK4 Nonsynonymous SNV M690I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 219233 chr19 51297773 51297773 G A rs780331972 ACP4 Synonymous SNV P307P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 219234 chr6 124604219 124604219 T C NKAIN2 Synonymous SNV F41F 0 0 0 2 0 0 0.005 0 0 0 0 0 2.987 219235 chr19 51537345 51537345 G A rs766966626 KLK12 Nonsynonymous SNV R30C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 219236 chr14 74085939 74085939 T A rs199762917 ACOT6 Nonsynonymous SNV V7E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 30 219237 chr9 37783990 37783990 T G rs141138948 EXOSC3 Nonsynonymous SNV D132A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 28.1 219238 chr9 75357378 75357378 C T rs200841002 TMC1 Nonsynonymous SNV R158C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 219239 chr2 191399361 191399361 C G NEMP2 Synonymous SNV R7R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 219240 chr11 124669999 124669999 G A MSANTD2 Nonsynonymous SNV A93V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 219241 chr8 94803515 94803515 A G TMEM67 Nonsynonymous SNV M515V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.49 219242 chr2 201478556 201478556 C G rs143692548 AOX1 Nonsynonymous SNV A493G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.8 219243 chr2 201798626 201798626 C A ORC2 Nonsynonymous SNV Q260H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 219244 chr2 201798676 201798676 A T ORC2 Nonsynonymous SNV F244I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 219245 chr9 79324805 79324805 C T rs367561759 PRUNE2 Synonymous SNV A795A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.097 219246 chr4 88767432 88767432 A G rs149174816 MEPE Nonsynonymous SNV Y471C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 219247 chr14 90420254 90420254 G A rs535924013 EFCAB11 Nonsynonymous SNV S56F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 219248 chr9 88292410 88292410 G T rs137920430 AGTPBP1 Nonsynonymous SNV P178H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.8 219249 chr2 204354662 204354662 T C RAPH1 Nonsynonymous SNV H126R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.077 219250 chr14 92265368 92265373 GAAGAA - rs778997308 TC2N S200_S201del 0.001 0 0 0 1 0 0 0 0 0 0 0 219251 chr14 92265375 92265375 A T rs773399002 TC2N Nonsynonymous SNV S199T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.846 219252 chr2 24440870 24440870 G A rs202237817 ITSN2 Nonsynonymous SNV R1198C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 219253 chr9 93606352 93606352 G A rs763174175 SYK Nonsynonymous SNV G58R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 219254 chr2 25064458 25064458 G A rs41289508 ADCY3 Synonymous SNV N345N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.22 219255 chr2 26534853 26534853 C T rs139835841 ADGRF3 Synonymous SNV S382S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.59 219256 chr2 26667185 26667185 G A rs141347582 DRC1 Nonsynonymous SNV R375H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.5 219257 chr11 134151936 134151936 C T rs763153762 GLB1L3 Nonsynonymous SNV A150V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 219258 chr2 209190254 209190254 G A rs778006745 PIKFYVE Nonsynonymous SNV G907S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 219259 chr9 107546614 107546614 C T rs192904467 ABCA1 Synonymous SNV V2256V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.338 219260 chr11 134234238 134234238 C T GLB1L2 Synonymous SNV N250N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 219261 chr6 158923711 158923711 C T rs201288009 TULP4 Nonsynonymous SNV R1006W 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 23.9 219262 chr6 159188477 159188477 G A rs139613796 EZR Nonsynonymous SNV P471L 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 Likely benign 15.32 219263 chr2 210559567 210559567 G A MAP2 Synonymous SNV G887G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.797 219264 chr2 210658538 210658538 G T UNC80 Nonsynonymous SNV S298I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 219265 chr9 98876968 98876968 G A rs962130008 LOC158434 0 0 0 1 0 0 0.003 0 0 0 0 0 1.28 219266 chr2 27360128 27360128 G A rs969681333 PRR30 Nonsynonymous SNV T357I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 219267 chr14 95675812 95675812 T A rs757824986 CLMN Nonsynonymous SNV I269F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 219268 chr6 159457293 159457293 C T rs148912994 TAGAP Nonsynonymous SNV E525K 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 6.953 219269 chr14 95912315 95912315 C T rs772015289 SYNE3 Synonymous SNV Q521Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.281 219270 chr2 27800953 27800953 A T rs13410886 C2orf16 Nonsynonymous SNV D505V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.72 219271 chr19 55751019 55751019 G A rs370366616 PPP6R1 Synonymous SNV D532D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.724 219272 chr4 110791223 110791223 C T rs397509378 LRIT3 Stop gain R440X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 35 219273 chr15 100882031 100882031 C T ADAMTS17 Nonsynonymous SNV G25D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 219274 chr6 1611262 1611279 GCCCCCGCCCGGCCGCCA - rs567719270 FOXC1 G198_P203del 0 0 0 1 0 0 0.003 0 0 0 0 0 219275 chr2 219540127 219540127 T C rs148800637 STK36 Nonsynonymous SNV L122P 0.001 0.021 0.003 1 1 8 0.003 1 0 0 0 0 26.4 219276 chr15 101566312 101566312 G C LRRK1 Nonsynonymous SNV G792A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 219277 chr6 161510382 161510382 A G rs200924812 MAP3K4 Nonsynonymous SNV Q951R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 219278 chr15 30058616 30058616 T C rs146166956 TJP1 Nonsynonymous SNV N148D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.206 219279 chr11 22296138 22296138 A G rs61746201 ANO5 Synonymous SNV S752S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.548 219280 chr9 114159435 114159435 - A ECPAS 0 0 0 1 0 0 0.003 0 0 0 0 0 219281 chr14 31175029 31175029 G A SCFD1 Synonymous SNV K312K 0.004 0 0 0 5 0 0 0 0 0 0 0 12.13 219282 chr11 27114779 27114779 T C rs143972595 BBOX1 Synonymous SNV Y133Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 219283 chr19 58869000 58869000 A G rs758269316 ZNF497 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 6.89 219284 chr11 28311790 28311790 G A rs11823114 METTL15 Nonsynonymous SNV A149T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 219285 chr19 58907569 58907571 AGG - rs747436338 RNF225 E45del 0 0 0.003 0 0 0 0 1 0 0 0 0 219286 chr11 3061146 3061146 A G rs775915799 CARS1 Synonymous SNV F74F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.494 219287 chr2 54482706 54482706 G A rs760946195 TSPYL6 Nonsynonymous SNV P195S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.465 219288 chr2 58459236 58459236 G C rs149726602 FANCL Nonsynonymous SNV F36L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 22.1 219289 chr4 156631791 156631791 C A GUCY1A1 Synonymous SNV T158T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 219290 chr2 233684550 233684550 G A rs200601366 GIGYF2 Nonsynonymous SNV R789H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26 219291 chr2 61546317 61546317 G A USP34 Synonymous SNV F1053F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.38 219292 chr19 6974507 6974507 T A rs757465260 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.671 219293 chr15 42373810 42373810 G T rs11635685 PLA2G4D Nonsynonymous SNV P275H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 219294 chr15 42984474 42984474 A C STARD9 Nonsynonymous SNV L3566F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 219295 chr15 42984705 42984705 G C STARD9 Nonsynonymous SNV Q3643H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 219296 chr2 70919601 70919601 C T rs144869244 ADD2 Synonymous SNV S229S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.83 219297 chr4 175604025 175604025 C T rs763755305 GLRA3 Nonsynonymous SNV G214R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 219298 chr11 4566567 4566567 T C OR52M1 Synonymous SNV A49A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.549 219299 chr11 47358943 47358943 G A rs11570097 MYBPC3 Synonymous SNV I867I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.87 219300 chr11 47469654 47469654 A G rs57878668 RAPSN Nonsynonymous SNV F81L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 16.99 219301 chr11 47599540 47599540 T C rs60620413 KBTBD4 Synonymous SNV P53P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 219302 chr11 47800723 47800723 T C rs56962998 NUP160 Synonymous SNV K1415K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 11.01 219303 chr2 101564759 101564759 T C NPAS2 Synonymous SNV Y142Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 219304 chr5 1258754 1258754 C T rs376266401 TERT Synonymous SNV V934V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.209 219305 chr2 111691181 111691181 C T rs185887789 ACOXL Nonsynonymous SNV R341C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 219306 chr2 112922743 112922743 G - FBLN7 C134Lfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 219307 chr19 9525081 9525081 G A rs370660229 ZNF266 Nonsynonymous SNV H174Y 0 0 0.003 0 0 0 0 1 0 0 0 0 16.33 219308 chr5 31294113 31294113 C A CDH6 Synonymous SNV I91I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 219309 chr5 31317859 31317859 T A rs1036815239 CDH6 Synonymous SNV I570I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.31 219310 chr9 139390550 139390550 G A rs370124241 NOTCH1 Synonymous SNV I2547I 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 11.11 219311 chr15 70959871 70959871 A G rs150879212 UACA Nonsynonymous SNV I1038T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 1.843 219312 chr2 128388834 128388834 G A rs768736049 MYO7B Nonsynonymous SNV R1638H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 219313 chr3 27233566 27233566 T A rs35493524 NEK10 Nonsynonymous SNV N132I 0 0.005 0 0 0 2 0 0 0 0 0 0 29.3 219314 chr2 131521646 131521646 G A rs79461100 AMER3 Synonymous SNV L667L 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.146 219315 chr1 110765828 110765828 G T rs754348166 KCNC4 Synonymous SNV L307L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.707 219316 chr3 38163924 38163924 C A rs756098920 DLEC1 Nonsynonymous SNV A1722D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.008 219317 chr3 38182729 38182729 C T MYD88 Synonymous SNV T236T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.6 219318 chr11 55606811 55606815 ATCTC - rs147515254 OR5D16 Stop gain Y195* 0.001 0 0 0 1 0 0 0 0 0 0 0 219319 chr2 150305610 150305610 G A rs55865437 LYPD6 Nonsynonymous SNV A56T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 219320 chr3 38936330 38936330 A G rs764912323 SCN11A Synonymous SNV F843F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.118 219321 chr15 78474441 78474441 G C rs1037796617 ACSBG1 Nonsynonymous SNV P310R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.3 219322 chr1 1147337 1147337 C T rs201461846 TNFRSF4 Nonsynonymous SNV V207M 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 4.369 219323 chr15 78834533 78834533 C T rs17588 PSMA4 Synonymous SNV D6D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.12 219324 chr11 558018 558018 G A rs201083238 LMNTD2 Nonsynonymous SNV R141W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 219325 chr2 152466406 152466406 G A rs368383341 NEB Nonsynonymous SNV R3840C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 30 219326 chr11 56020615 56020615 A G rs73474358 OR5T3 Nonsynonymous SNV K314E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 219327 chr15 79320165 79320165 G T rs35437275 RASGRF1 Synonymous SNV I433I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 12.34 219328 chr15 83296109 83296111 CTT - rs542858157 CPEB1 E8del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 219329 chr15 83523424 83523424 C T rs7175005 HOMER2 Nonsynonymous SNV R208H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 23.2 219330 chr6 7845499 7845499 T C BMP6 Nonsynonymous SNV M264T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.26 219331 chr15 84611493 84611493 A G ADAMTSL3 Nonsynonymous SNV N755D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.4 219332 chr6 83847340 83847340 G A rs140576384 DOP1A Synonymous SNV T1184T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 219333 chr3 43591299 43591299 G A rs142862162 ANO10 Synonymous SNV N459N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.805 219334 chr3 44286153 44286153 G A rs781488261 TOPAZ1 Nonsynonymous SNV D719N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 219335 chr3 44286207 44286207 A G rs114357122 TOPAZ1 Nonsynonymous SNV M737V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 219336 chr1 12313841 12313841 C T rs150048612 VPS13D Synonymous SNV V209V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 219337 chr3 44612684 44612684 T G rs113863022 ZKSCAN7 Nonsynonymous SNV N694K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.478 219338 chr15 31214503 31214503 A C rs141559766 FAN1 Synonymous SNV R706R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 9.464 219339 chr15 86198741 86198741 G C rs34045944 AKAP13 Nonsynonymous SNV D130H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 219340 chr15 86270398 86270398 A G rs75785836 AKAP13 Synonymous SNV P929P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 15.76 219341 chr15 86278323 86278323 G A rs60517661 AKAP13 Synonymous SNV L1082L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.36 219342 chr3 45038730 45038731 TA - EXOSC7 Y136Cfs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 219343 chr15 86807830 86807830 A C rs78658366 AGBL1 Synonymous SNV P476P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.003 219344 chr15 34546569 34546569 A C rs144474258 SLC12A6 Synonymous SNV S351S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.032 219345 chr11 563361 563361 C T RASSF7 Nonsynonymous SNV P332L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 219346 chr1 150599931 150599931 T G rs748021169 ENSA Synonymous SNV I65I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 219347 chr3 47891486 47891486 G A rs774572837 DHX30 Nonsynonymous SNV R1154H 0 0.003 0 0 0 1 0 0 0 0 0 0 21 219348 chr3 48456599 48456599 A G rs764358646 PLXNB1 Nonsynonymous SNV C1318R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.89 219349 chr1 151342242 151342242 G A rs546074005 SELENBP1 Nonsynonymous SNV T3M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 219350 chr3 48463090 48463090 G A rs751427669 PLXNB1 Nonsynonymous SNV T549M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.44 219351 chr2 174074513 174074513 G A rs145549000 MAP3K20 Synonymous SNV T267T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 219352 chr11 56468497 56468497 C T rs75293840 OR9G1, OR9G9 Nonsynonymous SNV L212F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.927 219353 chr2 179209067 179209067 G A rs771058337 OSBPL6 Nonsynonymous SNV A327T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 219354 chr2 179435332 179435332 C T rs375693396 TTN Nonsynonymous SNV R16111H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 219355 chr5 81572238 81572238 G A rs368315202 RPS23 Synonymous SNV D88D 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Likely benign 12.63 219356 chr15 91454421 91454421 C T rs200767675 MAN2A2 Synonymous SNV H632H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 219357 chr15 41819696 41819696 T C rs11540889 RPAP1 Synonymous SNV A512A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.122 219358 chr3 49293752 49293752 G A rs143925037 CCDC36 Synonymous SNV S274S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.269 219359 chr11 57068462 57068462 G A rs74776870 TNKS1BP1 Synonymous SNV S1675S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.423 219360 chr11 57188846 57188846 C G rs62623667 SLC43A3 Nonsynonymous SNV G121A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 219361 chr11 57311214 57311214 C T rs77000186 SMTNL1 Nonsynonymous SNV H284Y 0.003 0 0 0 3 0 0 0 0 0 0 0 12.77 219362 chr2 182413530 182413530 C T rs150587104 CERKL Nonsynonymous SNV R204H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 219363 chr1 155265500 155265500 C A PKLR Nonsynonymous SNV G111W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 219364 chr1 155282174 155282174 G T rs200530077 FDPS Nonsynonymous SNV W90C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 219365 chr15 42644231 42644231 G A rs150055767 GANC Nonsynonymous SNV G880D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.1 219366 chr11 58207106 58207106 T A rs141833958 OR5B12 Nonsynonymous SNV E173D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.009 219367 chr11 59190336 59190336 A C rs750110075 OR5A2 Nonsynonymous SNV L31V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 219368 chr15 43820271 43820271 - GCTCTG rs967523262 MAP1A A2205_P2206insLA 0.003 0 0 0 4 0 0 0 0 0 0 0 219369 chr5 110439494 110439494 G T rs772498725 WDR36 Nonsynonymous SNV V259L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 219370 chr1 156642100 156642100 G T NES Nonsynonymous SNV S627Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 219371 chr3 56659027 56659027 - ATTCAATCTGTGAAATTAAGCAGTTCAGTTTCTGGATCTGTACTTCTAA TASOR Frameshift insertion A946Lfs*18 0 0.003 0 0 0 1 0 0 0 0 0 0 219372 chrX 118786967 118786967 G A SEPTIN6 Synonymous SNV F126F 0.002 0 0 3 2 0 0.008 0 1 0 0 1 11.4 219373 chrX 128944884 128944884 G A rs139619000 ZDHHC9 Synonymous SNV S325S 0.002 0 0 3 2 0 0.008 0 1 0 0 1 Benign/Likely benign 0.804 219374 chr15 51696723 51696723 C A rs750803388 GLDN Nonsynonymous SNV F352L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely pathogenic 24.6 219375 chrX 129518696 129518696 A G rs141054139 GPR119 Synonymous SNV L242L 0.002 0 0 3 2 0 0.008 0 1 0 0 1 0.02 219376 chr3 69230733 69230733 - TGC rs759450677 FRMD4B S722_T723insS 0 0.003 0 0 0 1 0 0 0 0 0 0 219377 chr3 70008542 70008542 G A rs202020443 MITF Nonsynonymous SNV A277T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.3 219378 chr2 203049500 203049500 T C rs771431728 KIAA2012 Nonsynonymous SNV L715P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.108 219379 chr1 15986534 15986534 G C rs762537226 RSC1A1 Nonsynonymous SNV K57N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 219380 chr11 61959536 61959536 G A SCGB1D1 Nonsynonymous SNV V22M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.626 219381 chr5 131013520 131013520 G A rs767898166 FNIP1 Synonymous SNV A437A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.049 219382 chrX 152159254 152159254 C T rs146175766 PNMA5 Nonsynonymous SNV A297T 0.008 0.003 0.003 3 9 1 0.008 1 3 0 0 1 0.1 219383 chr1 167095042 167095042 G A rs761202049 DUSP27 Nonsynonymous SNV S225N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 219384 chr5 138760755 138760755 C T rs199657651 DNAJC18 Nonsynonymous SNV R203H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 219385 chr16 27078327 27078327 C T rs200270667 C16orf82 Nonsynonymous SNV P4L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.14 219386 chr10 74874153 74874153 G C rs766660545 NUDT13 Nonsynonymous SNV R10S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.32 219387 chr10 75143379 75143379 G T rs762743606 ANXA7 Nonsynonymous SNV P195T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 219388 chr5 140249189 140249189 A G rs781814958 PCDHA11 Synonymous SNV L167L 0.003 0 0 0 4 0 0 0 0 0 0 0 6.058 219389 chr10 79581094 79581094 C T rs552718615 DLG5 Nonsynonymous SNV A1050T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 219390 chr2 220090158 220090158 A C rs760447863 ATG9A Nonsynonymous SNV L117V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.569 219391 chr1 173952711 173952711 A G rs72711434 RC3H1 Nonsynonymous SNV V146A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 219392 chr2 220251066 220251066 C A rs780459234 DNPEP Nonsynonymous SNV G142V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 219393 chrX 39934106 39934106 C G rs772777080 BCOR Nonsynonymous SNV A165P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.287 219394 chr3 120128433 120128433 A G rs764301109 FSTL1 Synonymous SNV D136D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.085 219395 chr16 31339518 31339518 C T rs553266817 ITGAM Nonsynonymous SNV P920L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.2 219396 chr7 139311424 139311424 C T rs778529829 HIPK2 Synonymous SNV K514K 0 0 0 2 0 0 0.005 0 0 0 0 0 14.7 219397 chr10 91484815 91484815 A C rs769377812 KIF20B Nonsynonymous SNV N634T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 219398 chr3 122133416 122133416 G A rs200916424 WDR5B Synonymous SNV D320D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.829 219399 chr3 122133761 122133761 G A rs201366331 WDR5B Synonymous SNV L205L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.131 219400 chrX 69459711 69459711 T C rs150518464 AWAT1 Synonymous SNV C253C 0 0 0 3 0 0 0.008 0 0 0 0 1 0.101 219401 chr1 180904905 180904905 C T rs192741655 KIAA1614 Synonymous SNV N620N 0 0 0.007 0 0 0 0 2 0 0 0 0 6.39 219402 chrX 70344118 70344118 C T rs775882680 MED12 Synonymous SNV L618L 0 0 0 3 0 0 0.008 0 0 0 0 1 14.04 219403 chr16 4407167 4407167 A C rs773956867 CORO7, CORO7-PAM16 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 219404 chrX 83599298 83599298 A C rs771204433 HDX Nonsynonymous SNV N482K 0 0 0 3 0 0 0.008 0 0 0 0 1 25.6 219405 chr1 186043955 186043955 G A HMCN1 Nonsynonymous SNV G2741E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 219406 chr10 100003915 100003915 A G rs371067290 R3HCC1L X779W 0 0 0.003 3 0 0 0.008 1 0 0 0 0 21.1 219407 chr16 48209274 48209274 C T rs369304577 ABCC11 Nonsynonymous SNV R1198Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 219408 chr7 149558470 149558470 G A rs375023477 ZNF862 Nonsynonymous SNV D741N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.33 219409 chr1 193038590 193038590 A C rs761405121 RO60 Nonsynonymous SNV K136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 219410 chr5 160113134 160113134 T C rs375763118 ATP10B Nonsynonymous SNV H185R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 219411 chr2 234358632 234358632 C T rs889044501 DGKD Synonymous SNV V587V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.18 219412 chr10 103908227 103908227 G A rs753896515 PPRC1 Nonsynonymous SNV R1236Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 219413 chr2 234431981 234431981 G T rs72982324 USP40 Nonsynonymous SNV T678K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.34 219414 chr16 53528063 53528063 G C AKTIP Nonsynonymous SNV P233A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.41 219415 chr10 104572911 104572911 C T rs540426169 WBP1L Synonymous SNV C305C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 219416 chr1 200956172 200956172 C T rs746216671 KIF21B Nonsynonymous SNV R1189Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 219417 chr2 238475681 238475681 G A rs112622920 PRLH Nonsynonymous SNV A43T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 219418 chr3 134266311 134266311 G A CEP63 Nonsynonymous SNV G355D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.44 219419 chr2 239056498 239056498 G A rs188393495 KLHL30 Nonsynonymous SNV V392M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.9 219420 chr7 158672646 158672646 C T rs201289477 WDR60 Nonsynonymous SNV S236L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.308 219421 chr3 138351879 138351879 T C rs776097159 FAIM Synonymous SNV T166T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 219422 chr1 203465246 203465246 G T rs759170176 OPTC Nonsynonymous SNV G38V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 219423 chr16 66803991 66803991 T C rs1008381990 TERB1 Synonymous SNV A498A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.323 219424 chr10 1170855 1170855 A G rs142252253 WDR37 Nonsynonymous SNV N415S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.407 219425 chr16 67154034 67154034 A T rs770648324 C16orf70 Synonymous SNV A28A 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 6.934 219426 chr16 67973938 67973938 C T rs772313264 LCAT Nonsynonymous SNV G398R 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 19.12 219427 chr7 22233192 22233192 G C RAPGEF5 Nonsynonymous SNV P30A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.93 219428 chr10 121675324 121675324 C T rs145679618 SEC23IP Synonymous SNV D489D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.51 219429 chr3 154898142 154898153 TTCAAAGGATTA - MME R718Sfs*43 0.002 0.003 0 0 2 1 0 0 0 0 0 0 219430 chr1 205569568 205569568 C T rs199521700 MFSD4A Synonymous SNV N508N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.18 219431 chr10 124380758 124380758 T G DMBT1 Nonsynonymous SNV F1067V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 219432 chr16 70398987 70398987 A G rs139025377 DDX19A Nonsynonymous SNV K155R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 219433 chr7 27170344 27170344 C A rs141143994 HOXA4 Nonsynonymous SNV M3I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 219434 chr16 70693584 70693584 C T rs374146651 IL34 Synonymous SNV L155L 0.003 0 0 1 4 0 0.003 0 1 0 0 0 8.079 219435 chr16 72830432 72830432 G A ZFHX3 Nonsynonymous SNV P1136L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 219436 chr3 172115105 172115105 G A rs142343118 FNDC3B Nonsynonymous SNV R1152Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.37 219437 chr3 172477982 172477982 G A ECT2 Nonsynonymous SNV V174I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 219438 chr6 12120437 12120437 C T rs369724526 HIVEP1 Synonymous SNV L137L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.894 219439 chr16 75661863 75661863 G C rs148798578 KARS1 Nonsynonymous SNV P575R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 29.4 219440 chr1 215956113 215956113 C T rs75397806 USH2A Nonsynonymous SNV V3518I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11 219441 chr3 14711586 14711586 C T rs139954564 CCDC174 Synonymous SNV R366R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.76 219442 chr16 77465471 77465471 G C rs80153679 ADAMTS18 Synonymous SNV A72A 0.005 0 0 1 6 0 0.003 0 0 0 0 0 Benign 11.39 219443 chr16 77759425 77759425 C T rs560829499 NUDT7 Nonsynonymous SNV P45S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.2 219444 chr16 81303791 81303791 A G BCO1 Nonsynonymous SNV T291A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 219445 chr16 81725398 81725398 G A CMIP Stop gain W375X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 219446 chr3 32031873 32031873 T G ZNF860 Nonsynonymous SNV F434L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 219447 chr16 84163804 84163804 G A rs369725503 HSDL1 Synonymous SNV N151N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 219448 chr1 227923193 227923193 T A SNAP47 Nonsynonymous SNV V28D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 219449 chr1 2283411 2283411 G A rs112710576 LOC100129534 0 0 0.003 0 0 0 0 1 0 0 0 0 1.58 219450 chr7 5103622 5103622 G A rs151113080 RBAK Nonsynonymous SNV E179K 0 0 0 2 0 0 0.005 0 0 0 0 0 11.32 219451 chr16 27640087 27640087 A G rs80004272 KIAA0556 Synonymous SNV S82S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 0.736 219452 chr16 27660031 27660031 A G rs61738361 KIAA0556 Nonsynonymous SNV N172S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 0.002 219453 chr1 228602679 228602679 C T rs577046467 TRIM17 Nonsynonymous SNV G32D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 219454 chr16 88696953 88696953 G A rs374844312 ZC3H18 Nonsynonymous SNV G876D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 219455 chr3 196434646 196434646 T C CEP19 Nonsynonymous SNV M90V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 219456 chr1 231829613 231829613 C T rs202102981 DISC1 Nonsynonymous SNV R37W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 219457 chr3 46010078 46010078 G A rs142017802 FYCO1 Nonsynonymous SNV R250W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.7 219458 chr12 117476974 117476974 G A rs201444090 TESC Synonymous SNV R176R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 13.49 219459 chr16 88930689 88930689 G A rs372331360 PABPN1L Nonsynonymous SNV A222V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.722 219460 chr4 998047 998047 G A rs745915863 IDUA 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 18.93 219461 chr1 235915426 235915426 T C rs140434436 LYST Synonymous SNV Q2502Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.359 219462 chr1 236143189 236143189 C T rs35565926 NID1 Nonsynonymous SNV E1148K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 219463 chr16 89598440 89598440 G A rs371853703 SPG7 Synonymous SNV A372A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 219464 chr6 44272474 44272474 G A rs146924860 AARS2 Nonsynonymous SNV R554C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 219465 chr4 1746456 1746456 C A rs144776052 TACC3 Nonsynonymous SNV A783D 0.003 0.008 0.003 0 4 3 0 1 0 0 0 0 Benign 31 219466 chr3 49896763 49896763 C T rs141247488 CAMKV Synonymous SNV E498E 0.002 0.003 0 0 2 1 0 0 1 0 0 0 8.703 219467 chr4 3029670 3029670 C G rs377190005 GRK4 Synonymous SNV A140A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.666 219468 chr1 23885662 23885662 C G rs61749352 ID3 Nonsynonymous SNV E86Q 0 0 0.007 0 0 0 0 2 0 0 0 0 16.41 219469 chr6 46836732 46836732 A G rs759337776 ADGRF5 Synonymous SNV Y503Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.03 219470 chr4 3446150 3446150 C G rs201082880 HGFAC Nonsynonymous SNV C237W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 219471 chr3 52824844 52824844 C T rs200827836 ITIH1 Stop gain R513X 0.002 0.003 0 0 2 1 0 0 1 0 0 0 39 219472 chr1 247322356 247322356 - C rs558305005 ZNF124 Frameshift insertion E57Gfs*6 0 0 0.003 1 0 0 0.003 1 0 0 0 0 219473 chr16 48395400 48395400 G A rs753782001 LONP2 Nonsynonymous SNV E872K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 219474 chr4 13612612 13612612 T C rs779452299 BOD1L1 Synonymous SNV K479K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.557 219475 chr3 111639245 111639245 C G rs769332162 PHLDB2 Nonsynonymous SNV N660K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 219476 chr3 111768745 111768745 G A rs775803423 TMPRSS7 Nonsynonymous SNV M212I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 219477 chr1 25667027 25667027 G A rs562616035 TMEM50A Nonsynonymous SNV G17E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 219478 chr4 27019452 27019452 C T rs150975796 STIM2 Nonsynonymous SNV H537Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.044 219479 chr6 90572800 90572800 G A rs201785439 CASP8AP2 Nonsynonymous SNV E458K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.332 219480 chr6 91269824 91269824 C T rs375134124 MAP3K7 Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 219481 chr1 27685073 27685073 C T MAP3K6 Nonsynonymous SNV M863I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 219482 chr3 113375749 113375749 T G USF3 Nonsynonymous SNV N1594H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 219483 chr17 27209022 27209022 C T FLOT2 Nonsynonymous SNV E242K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 219484 chr4 47597878 47597878 G A rs149439710 CORIN Nonsynonymous SNV R893W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 29.9 219485 chr4 48523122 48523122 C T rs201717070 FRYL Synonymous SNV R2544R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.453 219486 chr4 55592059 55592059 A G rs151016327 KIT Synonymous SNV T461T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 0.018 219487 chr3 122128648 122128648 G A rs751351840 FAM162A Synonymous SNV E145E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 219488 chr1 37270633 37270633 C G rs765093458 GRIK3 Synonymous SNV V840V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.64 219489 chr1 39753070 39753070 A C rs370525180 MACF1 Nonsynonymous SNV T546P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 219490 chr4 71063875 71063875 G A rs753320098 ODAM 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 219491 chr17 3595079 3595079 G A rs369624870 P2RX5 Synonymous SNV F49F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.878 219492 chr11 6897954 6897954 G T rs781591862 OR10A4 Nonsynonymous SNV A26S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 219493 chr1 41483091 41483091 C T rs372626787 SLFNL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.356 219494 chr1 43004873 43004873 A G rs61729294 CCDC30 Nonsynonymous SNV I49M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.671 219495 chr1 43125027 43125027 T C rs142329121 PPIH Synonymous SNV G4G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.552 219496 chr1 43213897 43213897 G A rs34809608 P3H1 Synonymous SNV P604P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.04 219497 chr1 43220601 43220601 G A rs61746642 P3H1 Synonymous SNV I428I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.74 219498 chr1 43223508 43223508 G A rs61100157 P3H1 Synonymous SNV A342A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.1 219499 chr1 43255567 43255567 G A rs61743366 TMEM269 Nonsynonymous SNV M43I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 219500 chr1 43296130 43296130 C T rs35757049 ERMAP Nonsynonymous SNV A4V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 219501 chr1 43396396 43396396 G A rs144538918 SLC2A1 Synonymous SNV F139F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.44 219502 chr3 129185754 129185754 G T rs774066146 IFT122 Nonsynonymous SNV M195I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.93 219503 chr1 43687934 43687934 A C rs78435721 CFAP57 Nonsynonymous SNV K834Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 25.5 219504 chr3 130095210 130095210 A G COL6A5 Synonymous SNV K66K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 219505 chr1 43898403 43898403 T G rs114759137 SZT2 Nonsynonymous SNV S1788R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.9 219506 chr1 43913508 43913508 C T rs115595942 SZT2-AS1 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.063 219507 chr1 44165651 44165651 C T rs1019896242 KDM4A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.378 219508 chr3 130285645 130285645 A C rs11921769 COL6A6 Nonsynonymous SNV E461A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 12.89 219509 chr3 131442345 131442345 T C rs34701357 CPNE4 Nonsynonymous SNV H120R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 219510 chr11 9087505 9087505 C G SCUBE2 Nonsynonymous SNV E261D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.45 219511 chr17 38975119 38975119 - CCGCCGCCGGAGCTGCTG rs766129021 KRT10 G556_Y557insSSSGGG 0.002 0 0 0 2 0 0 0 0 0 0 0 219512 chr4 83840050 83840050 A G rs199572674 THAP9 Synonymous SNV L895L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 219513 chr1 4772050 4772050 C A rs148753165 AJAP1 Synonymous SNV A40A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.272 219514 chr1 52272580 52272580 C T NRDC Nonsynonymous SNV D666N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 219515 chr4 89827579 89827579 A G FAM13A Nonsynonymous SNV L265S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 219516 chr4 90170761 90170761 A G rs7660057 GPRIN3 Synonymous SNV P167P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.35 219517 chr6 155757581 155757581 C T rs140761547 NOX3 Nonsynonymous SNV V257M 0.004 0 0 0 5 0 0 0 0 0 0 0 13.55 219518 chr1 55253420 55253420 G A rs144865731 TTC22 Nonsynonymous SNV R235W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 219519 chr3 156697012 156697012 T A rs372814129 LEKR1 Nonsynonymous SNV L259I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.17 219520 chr3 158364009 158364010 AA - rs752400894 GFM1 G99Nfs*18 0.001 0.003 0 0 1 1 0 0 0 0 0 0 219521 chr6 159660902 159660902 T C FNDC1 Nonsynonymous SNV C1512R 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 23.3 219522 chr11 35339023 35339023 C T rs752965234 SLC1A2 Nonsynonymous SNV D20N 0 0 0 1 0 0 0.003 0 0 0 0 0 21 219523 chr6 169640636 169640636 T C rs151159917 THBS2 Nonsynonymous SNV R315G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.1 219524 chr17 42853018 42853018 G C rs774000432 ADAM11 Nonsynonymous SNV D287H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 219525 chr7 645866 645866 T G rs148109257 PRKAR1B Synonymous SNV G171G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.398 219526 chr1 79386047 79386047 T C rs141262593 ADGRL4 Nonsynonymous SNV T428A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 219527 chr1 8415631 8415631 C A rs143882788 RERE Synonymous SNV G951G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 219528 chr3 184603894 184603894 A G rs182452550 VPS8 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 219529 chr4 128938542 128938542 C T rs145102002 ABHD18 Synonymous SNV S38S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.24 219530 chr4 129864187 129864187 C T rs148288466 SCLT1 Synonymous SNV K532K 0 0.005 0 0 0 2 0 0 0 0 0 0 14.24 219531 chr1 86894241 86894241 C T rs72720125 CLCA2 Synonymous SNV Y155Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16 219532 chr4 141313526 141313526 - T rs772112043 CLGN Frameshift insertion H500Tfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 219533 chr4 143324123 143324123 C T INPP4B Nonsynonymous SNV V114I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 219534 chr8 26221327 26221327 G A rs949845248 PPP2R2A Nonsynonymous SNV R308Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 219535 chr1 89414776 89414776 A T rs144984854 KYAT3 Nonsynonymous SNV L346Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 219536 chr1 89486374 89486374 T C rs765170833 GBP3 Nonsynonymous SNV M11V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 219537 chr7 4899771 4899771 A G rs199672209 PAPOLB Synonymous SNV S557S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.035 219538 chr12 6953128 6953128 A G GNB3 Nonsynonymous SNV I228V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 219539 chr17 48606459 48606459 G C rs61749933 MYCBPAP Nonsynonymous SNV L894F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.09 219540 chr1 93676391 93676391 T G rs200333973 CCDC18 Stop gain Y414X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 219541 chr17 48627449 48627449 C T rs151336896 SPATA20 Synonymous SNV N306N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.96 219542 chr20 11249259 11249259 - T rs199889068 LOC339593 0 0 0.003 0 0 0 0 1 0 0 0 0 219543 chr20 13763680 13763680 T C ESF1 Nonsynonymous SNV K36R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 219544 chr4 1161396 1161396 C A SPON2 Nonsynonymous SNV G287V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 219545 chr17 26818769 26818769 C T rs140762570 SLC13A2 Synonymous SNV N308N 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.86 219546 chr8 69358690 69358690 A G rs755642982 C8orf34 Nonsynonymous SNV K201R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 26.1 219547 chr20 16359856 16359856 G T rs761718164 KIF16B Nonsynonymous SNV L931I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 219548 chr7 27150189 27150189 A C HOXA3 Nonsynonymous SNV F24C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 219549 chr17 28407931 28407931 G T rs142178237 EFCAB5 Nonsynonymous SNV A1120S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.5 219550 chr20 18143261 18143261 A G rs764387114 KAT14 Nonsynonymous SNV Q448R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.373 219551 chr12 9311145 9311145 G A rs765951100 PZP Synonymous SNV F1055F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.556 219552 chr4 5642249 5642249 C T rs145277501 EVC2 Nonsynonymous SNV G408S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 9.448 219553 chr17 63687 63687 C T rs758708385 RPH3AL Nonsynonymous SNV A273T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.44 219554 chr17 63898433 63898433 T G rs748223257 CEP112 Nonsynonymous SNV E625A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 219555 chr17 67080634 67080634 A - ABCA6 F1400Sfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 219556 chr5 10290794 10290794 G A rs148288379 CMBL Synonymous SNV V27V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 219557 chr7 45111421 45111421 C A CCM2 Nonsynonymous SNV A215E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.487 219558 chr5 16478205 16478205 C T RETREG1 Nonsynonymous SNV A130T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.7 219559 chr17 7222374 7222374 G A rs200109408 NEURL4 Nonsynonymous SNV L1225F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.2 219560 chr20 34060637 34060637 G A rs766701871 CEP250 Nonsynonymous SNV R397Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 219561 chr11 59344059 59344059 G A rs202156177 OSBP Synonymous SNV D805D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.118 219562 chr11 59423043 59423043 A G rs186245888 PATL1 Synonymous SNV P328P 0 0 0 2 0 0 0.005 0 0 0 0 0 9.21 219563 chr11 60048163 60048163 C T rs137917837 MS4A4A Synonymous SNV Y5Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.385 219564 chr5 40716359 40716359 G C rs140209301 TTC33 Stop gain S226X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 219565 chr17 72926688 72926688 C T rs767497383 OTOP2 Nonsynonymous SNV R320C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 219566 chr4 40762452 40762452 T C rs138863704 NSUN7 Synonymous SNV Y100Y 0.002 0 0 0 2 0 0 0 1 0 0 0 9.747 219567 chr9 116132005 116132005 T C rs772538418 BSPRY Synonymous SNV D269D 0 0 0 2 0 0 0.005 0 0 0 0 0 1.694 219568 chr7 75517460 75517460 G A rs116984367 RHBDD2 Synonymous SNV P160P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.319 219569 chr11 62416736 62416736 A T INTS5 Synonymous SNV S272S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.092 219570 chr7 76922297 76922297 A C rs77337116 CCDC146 Nonsynonymous SNV N815T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.693 219571 chr7 77325978 77325978 G C rs775127362 RSBN1L Synonymous SNV G64G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.226 219572 chr11 403723 403723 G A rs148364325 PKP3 Nonsynonymous SNV G677S 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 23.9 219573 chr7 91732083 91732083 G A rs141856443 AKAP9 Nonsynonymous SNV R3758H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 21.6 219574 chr9 125551464 125551464 A G rs748904675 OR5C1 Nonsynonymous SNV M85V 0 0 0 2 0 0 0.005 0 0 0 0 0 18.49 219575 chr9 126125191 126125191 G A rs200283870 CRB2 Nonsynonymous SNV A48T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 5.789 219576 chr11 46419350 46419350 T C rs763966082 AMBRA1 Nonsynonymous SNV I1123V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.52 219577 chr5 76732207 76732208 AT - rs776766189 WDR41 M369Vfs*15 0 0.003 0 0 0 1 0 0 0 0 0 0 219578 chr17 42284870 42284870 G A rs148770098 UBTF Synonymous SNV G670G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.36 219579 chr11 65824395 65824395 G C SF3B2 Nonsynonymous SNV Q212H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.112 219580 chr11 66294249 66294249 A T rs374356964 BBS1 Nonsynonymous SNV Q437L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28 219581 chr11 66358941 66358941 C G rs376754440 CCDC87 Nonsynonymous SNV E516Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 219582 chr13 73336224 73336224 G T DIS3 Nonsynonymous SNV Q604K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.06 219583 chr4 81974620 81974620 T A rs199975567 BMP3 Nonsynonymous SNV F450Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 219584 chr4 84367222 84367222 T C rs139783379 HELQ Synonymous SNV E403E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.057 219585 chr20 61576134 61576134 G A rs762677628 GID8 Nonsynonymous SNV R186H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 219586 chr13 80122480 80122480 T C rs148785504 NDFIP2 Synonymous SNV T266T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.812 219587 chr13 86369403 86369403 T C rs17080147 SLITRK6 Nonsynonymous SNV Q414R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.001 219588 chr13 88329124 88329124 G T rs139493330 SLITRK5 Nonsynonymous SNV R494L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 219589 chr4 88533705 88533705 - AACATATGTTCATCATGGGAAAGAA rs751792838 DSPP Frameshift insertion G123Efs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 219590 chr4 88533709 88533709 T A rs768120028 DSPP Nonsynonymous SNV I124K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 219591 chr5 96078382 96078382 C T rs150538389 CAST Synonymous SNV L237L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.18 219592 chr13 99047603 99047603 G T rs200801295 FARP1 Synonymous SNV A429A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.759 219593 chr13 99554570 99554570 T C rs201567092 DOCK9 Nonsynonymous SNV H452R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.072 219594 chr17 48606077 48606077 T C rs780280635 MYCBPAP Nonsynonymous SNV M825T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 219595 chr21 28216770 28216770 G T rs780559162 ADAMTS1 Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 219596 chr17 48626847 48626847 G A rs148887910 SPATA20 Synonymous SNV P271P 0.004 0 0 0 5 0 0 0 0 0 0 0 5.681 219597 chr7 100680690 100680690 T G MUC17 Nonsynonymous SNV V1998G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 219598 chr21 34110571 34110571 T C rs192683596 PAXBP1 Synonymous SNV L798L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.946 219599 chr7 100855810 100855810 C T rs775566357 PLOD3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 219600 chr11 78780935 78780935 C G rs750883732 TENM4 Nonsynonymous SNV E19Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29 219601 chr4 126238080 126238080 C T FAT4 Nonsynonymous SNV R172C 0.002 0 0 0 2 0 0 0 1 0 0 0 23.8 219602 chr11 85396881 85396881 T C rs200777690 CCDC89 Nonsynonymous SNV N98S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.7 219603 chr7 103029848 103029848 A G rs142639517 SLC26A5 Synonymous SNV I445I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.189 219604 chr9 139564417 139564417 G A rs143123347 EGFL7 Nonsynonymous SNV R122H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.08 219605 chr7 105255203 105255203 G A rs752716550 ATXN7L1 Synonymous SNV P402P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 219606 chr11 92543039 92543039 G A rs769685373 FAT3 Nonsynonymous SNV R3093Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 219607 chr18 21451601 21451601 T - rs767394785 LAMA3 A1659Pfs*90 0.003 0 0 2 3 0 0.005 0 0 0 0 0 219608 chr4 148407187 148407187 G A rs201702493 EDNRA Synonymous SNV L118L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.966 219609 chr21 41414530 41414530 G A rs199512904 DSCAM Synonymous SNV Y1818Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.136 219610 chr21 43162155 43162155 G C rs151200820 RIPK4 Nonsynonymous SNV L400V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 219611 chr5 139744061 139744061 G A rs547845941 SLC4A9 Nonsynonymous SNV R490H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 219612 chr4 159816905 159816905 A C rs910517430 FNIP2 Nonsynonymous SNV I698L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 219613 chr21 44480637 44480637 C T rs61735859 CBS, CBSL Synonymous SNV T248T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.41 219614 chr21 44836770 44836770 C T rs201955244 SIK1, SIK1B Nonsynonymous SNV G735D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.7 219615 chr21 45092221 45092221 C T rs115629605 RRP1B Synonymous SNV V82V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.08 219616 chr21 45537821 45537821 G T rs80106082 LOC102724159, PWP2 Nonsynonymous SNV E319D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.68 219617 chr21 45542141 45542141 A G rs34880744 LOC102724159, PWP2 Nonsynonymous SNV N574D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.36 219618 chr9 20414317 20414343 CTGCTGCTGCTGCTGCTGCTGCTGCTA - MLLT3 S179_S187del 0 0 0 2 0 0 0.005 0 0 0 0 0 219619 chr21 45713760 45713760 G A rs554954634 AIRE Nonsynonymous SNV R456H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 219620 chr7 142643326 142643326 G A rs763707975 KEL Nonsynonymous SNV R428C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 219621 chr21 47552366 47552366 C T rs199955442 COL6A2 Nonsynonymous SNV T987M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25 219622 chr5 146017920 146017920 G A rs368519002 PPP2R2B Synonymous SNV A231A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 219623 chr21 47831927 47831927 C T rs150436577 PCNT Synonymous SNV G1862G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.92 219624 chr21 47841889 47841889 G A rs781579296 PCNT Nonsynonymous SNV G2226S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 219625 chr11 119228770 119228770 C T rs539989778 USP2 Nonsynonymous SNV R205Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 219626 chr7 149174669 149174669 G A rs184794481 ZNF746 Nonsynonymous SNV T233M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 219627 chr14 33293820 33293820 A T rs35977369 AKAP6 Nonsynonymous SNV E2267D 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 0.002 219628 chr22 18301431 18301431 C T rs372584456 MICAL3 Synonymous SNV A1332A 0.004 0.008 0.003 1 5 3 0.003 1 0 0 0 0 9.12 219629 chr9 6256078 6256078 T A rs35375147 IL33 Synonymous SNV G115G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.05 219630 chr22 19119078 19119078 T G TSSK2 Nonsynonymous SNV F56V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 219631 chr9 71940597 71940597 C G rs539344261 FAM189A2 Synonymous SNV S124S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 219632 chr5 1084050 1084050 G T rs144912944 SLC12A7 Synonymous SNV R313R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.062 219633 chr9 73230919 73230919 T C TRPM3 Nonsynonymous SNV M789V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.51 219634 chr9 84249102 84249102 C T rs143365960 TLE1 Nonsynonymous SNV G173S 0 0 0 2 0 0 0.005 0 0 0 0 0 23 219635 chr22 24034896 24034896 G A rs145233947 RGL4 Synonymous SNV P138P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.04 219636 chr5 159344562 159344562 C T rs751740593 ADRA1B Nonsynonymous SNV A217V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.425 219637 chr5 160047866 160047866 T G rs767947177 ATP10B Nonsynonymous SNV Q635P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 219638 chr18 77440142 77440142 G C rs912170260 CTDP1 Nonsynonymous SNV Q65H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.329 219639 chr11 128709618 128709618 G A rs117535913 KCNJ1 Nonsynonymous SNV T193M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.8 219640 chr5 169018056 169018056 A G rs34833100 SPDL1 Nonsynonymous SNV Y55C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 26.9 219641 chr5 169025501 169025501 T C rs61735388 SPDL1 Nonsynonymous SNV S352P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.9 219642 chr22 29538060 29538060 A T KREMEN1 Nonsynonymous SNV Q446L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 219643 chr5 169494619 169494619 A C rs769766167 DOCK2 Nonsynonymous SNV N1525H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 219644 chr9 99003140 99003140 G C rs150686885 HSD17B3 Nonsynonymous SNV T241R 0 0 0 2 0 0 0.005 0 0 0 0 0 16.02 219645 chr22 30415633 30415633 C T MTMR3 Nonsynonymous SNV S662F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.091 219646 chr5 38919437 38919437 G - OSMR Stop gain V572* 0.001 0 0 0 1 0 0 0 0 0 0 0 219647 chr5 174953668 174953668 C A rs763997548 SFXN1 Synonymous SNV R258R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 219648 chrX 101139606 101139606 G A rs751180162 ZMAT1 Nonsynonymous SNV H265Y 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.004 219649 chr19 10225208 10225208 C T rs146829743 P2RY11, PPAN-P2RY11 Nonsynonymous SNV R307W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.9 219650 chr5 176025246 176025246 C T rs764740539 GPRIN1 Synonymous SNV V530V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.927 219651 chr5 52145218 52145218 A G rs746066086 ITGA1 Synonymous SNV V27V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.844 219652 chrX 109694728 109694728 C A rs749452596 RTL9 Nonsynonymous SNV P295T 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.001 219653 chr22 32233139 32233139 C T DEPDC5 Synonymous SNV D706D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 219654 chrX 117733154 117733154 C T rs139561772 DOCK11 Nonsynonymous SNV S842L 0.008 0.003 0 1 9 1 0.003 0 3 0 0 0 Likely benign 21.8 219655 chr11 62554971 62554971 - GGCGGCCGC rs779222937 TMEM179B A27_M28insAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 219656 chr22 38165143 38165143 C T rs772788696 TRIOBP Synonymous SNV H515H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.037 219657 chr5 180276919 180276919 T A rs761122268 ZFP62 Nonsynonymous SNV I526F 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 219658 chr11 62984806 62984807 AA - rs762601482 SLC22A25 F270Cfs*30 0.001 0 0 1 1 0 0.003 0 0 0 0 0 219659 chr12 7076630 7076630 A T rs369576243 SCARNA12 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.135 219660 chr22 39777788 39777788 G C rs193159582 SYNGR1 Nonsynonymous SNV D191H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 219661 chr5 74059509 74059509 A G rs765078389 GFM2 Nonsynonymous SNV I20T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.534 219662 chr19 12868839 12868839 C G rs149797899 BEST2 Nonsynonymous SNV A493G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.3 219663 chr22 42280986 42280986 C T rs368349995 SREBF2 Nonsynonymous SNV R727W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 219664 chr22 42761032 42761032 C T LINC01315 0 0 0.003 0 0 0 0 1 0 0 0 0 5.725 219665 chr14 88416261 88416261 C T GALC Synonymous SNV E399E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 219666 chr6 7405535 7405535 T G rs200129596 RIOK1 Nonsynonymous SNV F280V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 219667 chrX 20227436 20227436 T C rs56338023 RPS6KA3 Synonymous SNV L71L 0.003 0 0.003 1 3 0 0.003 1 1 0 0 0 Benign 3.203 219668 chr19 15131410 15131410 C G rs201032992 CCDC105 Synonymous SNV P271P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.69 219669 chr6 17764642 17764642 G T KIF13A Nonsynonymous SNV P1658H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 219670 chr6 21595563 21595563 - GCCTCGGCCTCCGCCTCCTCGGCA rs753545719 SOX4 A279_A280insSSAASASA 0.002 0.003 0 0 2 1 0 0 0 0 0 0 219671 chr6 21595904 21595904 C T rs538933443 SOX4 Nonsynonymous SNV S380F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 219672 chr8 35648045 35648045 A C UNC5D Nonsynonymous SNV E937D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 219673 chr11 6578148 6578148 T C rs114809425 DNHD1 Synonymous SNV P2541P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.002 219674 chr8 39806714 39806714 A G rs759053095 IDO2 Synonymous SNV T23T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 219675 chr19 16178543 16178543 A G rs200328185 TPM4 Nonsynonymous SNV K37E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 219676 chrX 47775612 47775612 G A ZNF81 Nonsynonymous SNV E523K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 219677 chr8 41582037 41582037 G A rs1013205164 ANK1 Synonymous SNV Y216Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 219678 chr8 48308934 48308934 A G SPIDR 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 219679 chr22 50659473 50659473 G A rs758146271 TUBGCP6 Synonymous SNV N1105N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.119 219680 chrX 70643868 70643868 T C rs755956262 TAF1 Synonymous SNV D1540D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.284 219681 chr2 109463228 109463228 G A rs142557775 CCDC138 Nonsynonymous SNV G409D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 219682 chr5 121354971 121354971 C G SRFBP1 Nonsynonymous SNV T96S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 219683 chr2 109964211 109964211 G A rs201449254 SH3RF3 Nonsynonymous SNV D219N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 219684 chr5 126383586 126383586 G C C5orf63 Nonsynonymous SNV L65V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.863 219685 chr12 42854238 42854238 C T rs150809651 PRICKLE1 Synonymous SNV K623K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 13.76 219686 chr19 19643487 19643487 C T rs61749571 YJEFN3 Nonsynonymous SNV R36C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 219687 chr19 20044016 20044016 T C rs374441171 ZNF93 Synonymous SNV D84D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.126 219688 chr19 20044033 20044033 A G rs762564366 ZNF93 Nonsynonymous SNV N90S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.069 219689 chr19 20044034 20044034 C A rs763630419 ZNF93 Nonsynonymous SNV N90K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.08 219690 chr19 20727739 20727739 G A rs200133247 ZNF737 Nonsynonymous SNV P424S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.67 219691 chr19 20728778 20728778 C T rs192343901 ZNF737 Synonymous SNV T77T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 219692 chr8 105360963 105360963 C T rs201203725 DCSTAMP Synonymous SNV A61A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 219693 chr6 42932147 42932147 G A rs762858933 PEX6 Nonsynonymous SNV R957W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 219694 chr19 21132937 21132938 AT - rs745640042 ZNF85 Stop gain C476* 0.003 0 0 1 3 0 0.003 0 0 0 0 0 219695 chr8 113599383 113599383 T G CSMD3 Nonsynonymous SNV E1136A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 219696 chr5 139743726 139743726 A G rs776924668 SLC4A9 Nonsynonymous SNV T437A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 219697 chr6 43155746 43155746 C A CUL9 Nonsynonymous SNV T626N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.2 219698 chr6 43184019 43184019 G A CUL9 Synonymous SNV E2020E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.433 219699 chr15 42117595 42117595 G A rs891580435 MAPKBP1 Synonymous SNV L1219L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.326 219700 chr12 49918501 49918501 G A rs143789908 SPATS2 Nonsynonymous SNV R383Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 219701 chr6 43251352 43251352 C T rs145187814 TTBK1 Synonymous SNV G958G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.26 219702 chr12 50398027 50398027 A T RACGAP1 Nonsynonymous SNV D104E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.04 219703 chr12 50467792 50467792 A G rs538975728 ASIC1 Nonsynonymous SNV N142S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.59 219704 chr5 140348571 140348571 - TGCTGTGGAGGC rs782197469 PCDHAC2 G744_F745insCCGG 0.001 0 0.003 0 1 0 0 1 0 0 0 0 219705 chr6 44982552 44982552 T C rs752201958 SUPT3H Nonsynonymous SNV D31G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 219706 chr5 141244417 141244417 C T PCDH1 Synonymous SNV K114K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 219707 chr19 3110199 3110199 C T rs61731116 GNA11 Synonymous SNV H63H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.44 219708 chr8 133111201 133111201 C T rs145155340 HHLA1 Nonsynonymous SNV A70T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219709 chr6 49489390 49489390 G A GLYATL3 Nonsynonymous SNV A116T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.19 219710 chr2 159195304 159195304 T C rs372038223 CCDC148 Nonsynonymous SNV Y87C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 219711 chr5 149357408 149357408 A G rs755049614 SLC26A2 Nonsynonymous SNV N65D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.02 219712 chr8 141297744 141297744 G A rs775832304 TRAPPC9 Synonymous SNV V639V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 219713 chr11 9082034 9082034 G A SCUBE2 Synonymous SNV T296T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.478 219714 chr6 56417095 56417095 T A rs180765536 DST Nonsynonymous SNV S2876C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.36 219715 chr15 50578256 50578256 A C GABPB1 Nonsynonymous SNV S348R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 219716 chr5 149495449 149495449 G A PDGFRB Synonymous SNV P1002P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 219717 chr15 51397262 51397262 C T rs17647084 TNFAIP8L3 Nonsynonymous SNV A38T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 219718 chr15 52258562 52258562 A C LEO1 Nonsynonymous SNV S66R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 219719 chr6 71378360 71378360 C T rs550109095 SMAP1 Nonsynonymous SNV T10I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 219720 chr19 36633635 36633635 G A CAPNS1 Nonsynonymous SNV A109T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 33 219721 chr15 56683570 56683570 A G rs758468043 TEX9 Synonymous SNV E100E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.484 219722 chr19 3736212 3736212 G A rs147011106 TJP3 Nonsynonymous SNV G393R 0.003 0 0 0 3 0 0 0 0 0 0 0 28 219723 chr2 179396568 179396568 T G rs201218828 TTN Nonsynonymous SNV E25860A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 219724 chr2 179412378 179412378 C T rs752470969 TTN Synonymous SNV S22260S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 14.11 219725 chr10 135081624 135081624 - G rs558306638 ADAM8 0.002 0 0 1 2 0 0.003 0 0 0 0 0 219726 chr5 159781873 159781891 CCTGGGGGGCCGGGTGGGC - C1QTNF2 G43Efs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 219727 chr19 3779728 3779728 G A rs145376404 MATK Synonymous SNV A229A 0.003 0 0 0 3 0 0 0 0 0 0 0 3.083 219728 chr2 182926196 182926196 C T rs1047815364 PPP1R1C Nonsynonymous SNV T57I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 219729 chr2 184016264 184016264 C T rs775269889 NUP35 Synonymous SNV I142I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.86 219730 chr19 38643497 38643497 A T SIPA1L3 Nonsynonymous SNV H1184L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.78 219731 chr19 38899459 38899459 G C rs184620941 FAM98C Nonsynonymous SNV W247C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.1 219732 chr6 105233073 105233073 T C rs34365906 HACE1 Nonsynonymous SNV D302G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 20.4 219733 chr12 109609636 109609636 G A rs372405230 ACACB Nonsynonymous SNV V318I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.5 219734 chr19 39907532 39907532 A T rs374648694 PLEKHG2 Synonymous SNV A153A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 0.326 219735 chr8 145255348 145255348 C T rs894906126 MROH1 Nonsynonymous SNV R349C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219736 chr5 176301455 176301455 C T rs144064373 UNC5A Synonymous SNV F422F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 219737 chr12 110783143 110783143 G T rs117494432 ATP2A2 Synonymous SNV A899A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.91 219738 chr5 176830570 176830570 G A rs17876033 F12 Synonymous SNV N433N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.04 219739 chr15 74468355 74468355 G A rs140714071 ISLR Nonsynonymous SNV V386I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.8 219740 chr6 112537586 112537586 C T rs35349917 LAMA4 Nonsynonymous SNV G94S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign 31 219741 chr6 114379120 114379120 C T rs138498057 HS3ST5 Synonymous SNV P114P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.999 219742 chr15 75648535 75648535 G A MAN2C1 Nonsynonymous SNV S872L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 219743 chr5 178581060 178581060 G A rs759185076 ADAMTS2 Nonsynonymous SNV R458C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219744 chr12 117768432 117768432 G T rs770811286 NOS1 Nonsynonymous SNV A148E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.535 219745 chr2 204255784 204255784 A G rs199992443 ABI2 Nonsynonymous SNV M160V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 219746 chr6 127608728 127608728 G A rs111808127 RNF146 Nonsynonymous SNV D324N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.17 219747 chr2 206587386 206587386 G C rs141359798 NRP2 Synonymous SNV G206G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.608 219748 chr12 94563019 94563019 A G rs765162270 PLXNC1 Nonsynonymous SNV M385V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.441 219749 chr5 180664642 180664642 C G RACK1 Nonsynonymous SNV Q285H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 219750 chr6 129371166 129371166 T C rs376658270 LAMA2 Synonymous SNV H72H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.298 219751 chr9 14868968 14868968 G A rs201217735 FREM1 Nonsynonymous SNV S3F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 12.87 219752 chr9 19597227 19597227 C G SLC24A2 Nonsynonymous SNV G377R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 219753 chr6 10764811 10764814 CCGA - rs760121453 MAK R542Gfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 219754 chr12 103352171 103352171 - GCAGCA rs3832799 ASCL1 Q62_A63insQQ 0.005 0 0.007 3 6 0 0.008 2 0 0 0 0 219755 chr9 32541971 32541985 CTGTCTGATGATCGG - TOPORS S781_D785del 0.001 0 0 0 1 0 0 0 0 0 0 0 219756 chr19 4475575 4475575 C T HDGFL2 Nonsynonymous SNV P95S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 219757 chr12 124379250 124379250 C T rs545855479 DNAH10 Nonsynonymous SNV A2969V 0 0 0 1 0 0 0.003 0 0 0 0 0 29 219758 chr12 124417989 124417989 C T rs61746561 DNAH10 Nonsynonymous SNV R4352C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 35 219759 chr6 17629240 17629240 T C rs148383798 NUP153 Nonsynonymous SNV T1022A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.68 219760 chr6 151331086 151331086 G A rs139267961 MTHFD1L Nonsynonymous SNV G45R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 219761 chr12 124421764 124421764 C T rs34241686 CCDC92 Synonymous SNV P262P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.14 219762 chr12 124421844 124421844 C T rs35935939 CCDC92 Nonsynonymous SNV A236T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.26 219763 chr12 124819006 124819006 G A rs200545066 NCOR2 Nonsynonymous SNV P2180L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 219764 chr12 113314609 113314609 G A rs200996653 RPH3A Nonsynonymous SNV R303H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 219765 chr19 4550183 4550183 G A rs142864702 SEMA6B Nonsynonymous SNV A408V 0.003 0 0 0 3 0 0 0 0 0 0 0 29.9 219766 chr15 91549893 91549893 C T rs375557658 VPS33B Nonsynonymous SNV R229H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 219767 chr2 223773523 223773523 C T rs146044900 ACSL3 Synonymous SNV T11T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 14.58 219768 chr6 28116341 28116341 G A rs149570086 ZKSCAN8 Synonymous SNV L52L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.831 219769 chr6 28116342 28116342 C A rs144390792 ZKSCAN8 Nonsynonymous SNV R53S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 219770 chr12 118105418 118105418 G A rs373320178 KSR2 Synonymous SNV S344S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.47 219771 chr16 11000786 11000786 G A rs779022639 CIITA Synonymous SNV A479A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.879 219772 chr6 33623595 33623595 C T rs200966677 ITPR3 Synonymous SNV Y71Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.434 219773 chr6 33644804 33644804 G A rs200602680 ITPR3 Nonsynonymous SNV E1154K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 219774 chr9 94495610 94495610 C T rs55737262 ROR2 Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 219775 chr2 231865103 231865103 G A rs185217619 SPATA3 Synonymous SNV P108P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.256 219776 chr10 70992635 70992635 G A rs10998655 HKDC1 Synonymous SNV T114T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.31 219777 chr2 232325403 232325408 TCCTCA - rs764827556 NCL D261_E262del 0 0 0.003 0 0 0 0 1 0 0 0 0 219778 chr9 96420503 96420503 G A rs376560764 PHF2 Synonymous SNV S408S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 219779 chr2 233735027 233735027 G A rs373689575 SNORC Synonymous SNV P16P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.581 219780 chr19 49132632 49132632 C A SPHK2 Nonsynonymous SNV L487M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 219781 chr2 234580588 234580588 G A rs145084767 UGT1A9 Nonsynonymous SNV C3Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.037 219782 chr19 35804312 35804312 G A rs142825621 MAG Synonymous SNV T587T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.448 219783 chr6 37250053 37250053 G A rs149916828 TBC1D22B Nonsynonymous SNV A172T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 219784 chr7 780467 780467 G A rs113952995 DNAAF5 Synonymous SNV A264A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.33 219785 chr6 38862507 38862507 C A rs370299465 DNAH8 Nonsynonymous SNV H2655N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 219786 chr12 124421759 124421759 C T rs17886730 CCDC92 Nonsynonymous SNV R264H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.59 219787 chr19 50037600 50037600 G C RCN3 Synonymous SNV G131G 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.24 219788 chr16 1676047 1676051 CTCCT - CRAMP1 S141Lfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 219789 chr16 1676051 1676051 - GG CRAMP1 Frameshift insertion S142Wfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 219790 chr12 130929729 130929729 T C RIMBP2 Nonsynonymous SNV M206V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 219791 chr19 37677537 37677537 T C rs375805321 ZNF585B Nonsynonymous SNV N301S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 219792 chr7 6465628 6465628 G A rs993199047 DAGLB Synonymous SNV F220F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.385 219793 chr6 43019950 43019950 C T rs369167170 CUL7 Nonsynonymous SNV A245T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 219794 chr12 132549264 132549264 C T rs140367312 EP400 Nonsynonymous SNV P2796S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.8 219795 chr16 20752960 20752960 G A rs773773329 THUMPD1 Synonymous SNV G34G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 219796 chr7 6693116 6693139 GCCCGCTCCCGGCGCCCCTGGGGG - ZNF316 P633_L640del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 219797 chr10 89623725 89623742 GCGGCGGCGGCGGCGGCC - PTEN A12_A17del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 219798 chr6 44198348 44198348 A T rs76182139 SLC29A1 Synonymous SNV T237T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.084 219799 chr19 51890473 51890473 C T rs147625714 LIM2 Synonymous SNV A75A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.25 219800 chr6 44272485 44272485 C G rs79962181 AARS2 Nonsynonymous SNV G550A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.26 219801 chr6 44272513 44272513 C T rs142094090 AARS2 Nonsynonymous SNV E541K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.1 219802 chr10 95070397 95070397 T C MYOF Nonsynonymous SNV K1952E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.2 219803 chr6 46793215 46793215 C A rs368922958 MEP1A Synonymous SNV R255R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 219804 chr6 46976984 46976984 C A rs371167216 ADGRF1 Nonsynonymous SNV R729S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.224 219805 chr7 20824670 20824670 C T SP8 Nonsynonymous SNV G256R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 219806 chr2 27353132 27353132 G A rs371626040 ABHD1 Nonsynonymous SNV R285H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 219807 chr19 40430459 40430459 G A rs143207370 FCGBP Nonsynonymous SNV S495L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 219808 chr6 47846237 47846237 G A rs139611066 PTCHD4 Synonymous SNV T781T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.223 219809 chr7 21893996 21893996 G A DNAH11 Nonsynonymous SNV A3709T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 219810 chr2 28812894 28812894 C T rs75007235 PLB1 Nonsynonymous SNV T669M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 219811 chr2 28814005 28814005 G C rs75380829 PLB1 Nonsynonymous SNV Q687H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.075 219812 chr10 97096333 97096333 C T rs994402476 SORBS1 Nonsynonymous SNV R1195Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.41 219813 chr6 51889483 51889483 G A rs45517932 PKHD1 Nonsynonymous SNV L1709F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 219814 chr2 29256420 29256420 T C rs115336346 TOGARAM2 Nonsynonymous SNV I548T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.904 219815 chr16 2817926 2817926 C G rs377450912 SRRM2 Nonsynonymous SNV T2466S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.667 219816 chr2 29287841 29287841 G A rs1975713 PCARE Nonsynonymous SNV P1254L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.1 219817 chr7 24720119 24720119 A G MPP6 Nonsynonymous SNV I476V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.15 219818 chr2 30142881 30142881 A G rs115392387 ALK Synonymous SNV L215L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.674 219819 chr16 29791726 29791726 T C rs374584856 ZG16 Nonsynonymous SNV C164R 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 219820 chr2 31189074 31189074 G A rs150049844 GALNT14 Nonsynonymous SNV R132C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 219821 chr6 56499711 56499711 G A DST Nonsynonymous SNV A539V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 219822 chr2 32667216 32667216 A T rs72867263 BIRC6 Nonsynonymous SNV Q1343L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.07 219823 chr2 33952357 33952357 G A rs72857040 MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 5.605 219824 chr16 30545663 30545663 G A ZNF747 Nonsynonymous SNV S113L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.105 219825 chr16 3081105 3081105 C T BICDL2 Nonsynonymous SNV R110Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 219826 chr2 37443468 37443468 T G rs766469111 CEBPZ Nonsynonymous SNV K768Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 219827 chr2 39405690 39405690 A G CDKL4 X380Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.032 219828 chr16 335566 335566 C T rs748292003 PDIA2 Nonsynonymous SNV L328F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 219829 chr6 96971082 96971082 A C rs142787840 UFL1 Nonsynonymous SNV E46D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.852 219830 chr16 4405330 4405330 G A CORO7, CORO7-PAM16 Nonsynonymous SNV P825L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.5 219831 chr9 134308126 134308126 G A rs41302675 PRRC2B Nonsynonymous SNV V80I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 219832 chr2 68717332 68717332 A G rs910356674 APLF Nonsynonymous SNV K36R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 219833 chr7 55493019 55493019 C T rs201797363 LANCL2 Nonsynonymous SNV R361W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 219834 chr19 56373525 56373525 C T rs201339151 NLRP4 Nonsynonymous SNV A729V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.097 219835 chr6 111688931 111688931 C T REV3L Synonymous SNV K2020K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 219836 chr9 135978169 135978169 T C RALGDS Nonsynonymous SNV E582G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 219837 chr2 71891488 71891488 C T rs149087116 DYSF Synonymous SNV I1645I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.34 219838 chr16 54317639 54317639 G T IRX3 Nonsynonymous SNV L489M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 219839 chr13 108882267 108882267 C T rs749818748 ABHD13 Nonsynonymous SNV P234L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.1 219840 chr2 74752756 74752756 C T rs796594756 DQX1 Nonsynonymous SNV R34H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 219841 chr11 1093558 1093558 A C MUC2 Nonsynonymous SNV I1793L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.534 219842 chr16 57691354 57691354 G A rs372354417 ADGRG1 Nonsynonymous SNV V418I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.832 219843 chr9 139341761 139341761 G A SEC16A Synonymous SNV S2205S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.364 219844 chr12 663112 663112 C T rs199814733 B4GALNT3 Stop gain R675X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 219845 chr2 8890424 8890424 C T rs201090003 KIDINS220 Nonsynonymous SNV A1079T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.861 219846 chr14 20840909 20840909 C T rs771264352 TEP1 Synonymous SNV S2245S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 219847 chr6 148854014 148854014 C T rs139081709 SASH1 Nonsynonymous SNV P310L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 219848 chr19 6850734 6850734 G A rs761409372 VAV1 Nonsynonymous SNV R706Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 219849 chr10 410494 410494 G A rs756599363 DIP2C Nonsynonymous SNV P766L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 219850 chr3 111831723 111831723 - AAA MIR567 0 0 0.007 0 0 0 0 2 0 0 0 0 219851 chr7 100549804 100549804 G A rs774213758 MUC3A Nonsynonymous SNV V129M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 219852 chr14 23777010 23777010 G T rs778308004 BCL2L2, BCL2L2-PABPN1 Nonsynonymous SNV A12S 0 0 0 2 0 0 0.005 0 0 0 0 0 17.87 219853 chr3 112998137 112998137 G A rs766270235 BOC Nonsynonymous SNV E620K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 219854 chr10 11797434 11797434 G C ECHDC3 Nonsynonymous SNV V140L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 219855 chr6 158074610 158074610 C T rs149400450 ZDHHC14 Nonsynonymous SNV P340L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 219856 chr16 77769807 77769807 G A rs768311455 NUDT7 Nonsynonymous SNV R91Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219857 chr19 8495708 8495708 C T rs142074844 MARCHF2 Nonsynonymous SNV A180V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 219858 chr3 122271391 122271391 C T rs371692688 PARP9 Synonymous SNV S362S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 219859 chr3 122332104 122332104 G T PARP15 Stop gain E254X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 219860 chr7 100807757 100807757 G A rs557175283 VGF Nonsynonymous SNV T123I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 219861 chr7 101892205 101892205 C A rs782134779 CUX1 Synonymous SNV G1478G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 219862 chr11 17191135 17191135 G C rs200307463 PIK3C2A Nonsynonymous SNV Q52E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.085 219863 chr7 4825242 4825242 G A rs752186910 AP5Z1 Synonymous SNV L197L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.542 219864 chr16 88803092 88803092 G A rs183684596 PIEZO1 Synonymous SNV H417H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 7.429 219865 chr13 23910290 23910290 T A rs200735789 SACS Synonymous SNV I2428I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.61 219866 chr14 59105146 59105146 G A rs759948805 DACT1 Nonsynonymous SNV A76T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.003 219867 chr7 127238572 127238572 C T rs945071382 FSCN3 Synonymous SNV I348I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.71 219868 chr7 127999849 127999849 A C rs201068278 PRRT4 Nonsynonymous SNV V66G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.4 219869 chr1 1007569 1007569 C T RNF223 Synonymous SNV P126P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.52 219870 chr7 128434485 128434485 G A rs201497246 CCDC136 Nonsynonymous SNV V34M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 219871 chr16 89790109 89790109 G A rs777890180 ZNF276 Nonsynonymous SNV R333K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 219872 chr7 20449258 20449258 T A rs775982847 ITGB8 Nonsynonymous SNV Y682N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 219873 chr11 26584726 26584728 ACA - rs765395713 MUC15 L260del 0 0 0 1 0 0 0.003 0 0 0 0 0 219874 chr11 27493756 27493756 G T LGR4 Nonsynonymous SNV P32T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.56 219875 chr11 27695712 27695712 G A rs141032455 BDNF Synonymous SNV H40H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.947 219876 chr3 151072916 151072916 C T rs199750872 MED12L Synonymous SNV D767D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.04 219877 chr13 41767575 41767575 T A rs773830121 KBTBD7 Nonsynonymous SNV E273D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 219878 chr10 71695126 71695126 A T rs376827835 COL13A1 Synonymous SNV P500P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.122 219879 chr10 72493784 72493784 C T rs762559142 ADAMTS14 Nonsynonymous SNV P451L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 219880 chr11 32956461 32956461 G C rs746915352 QSER1 Nonsynonymous SNV Q1219H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.27 219881 chr3 16254165 16254165 C A rs141612559 GALNT15 Nonsynonymous SNV D429E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.971 219882 chr3 16254177 16254177 C A rs146245522 GALNT15 Synonymous SNV T433T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 219883 chr1 1132916 1132916 G A rs973463688 TTLL10 Nonsynonymous SNV D571N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 219884 chr7 141897310 141897310 C T MGAM2 Synonymous SNV H1581H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 219885 chr10 73056491 73056540 CTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACA - rs755779880 UNC5B L817_E819del 0.001 0 0 0 1 0 0 0 0 0 0 0 219886 chr3 169840481 169840481 C T rs200199255 PHC3 Nonsynonymous SNV E602K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 219887 chr17 18145519 18145519 C T rs141382094 LLGL1 Synonymous SNV N974N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 219888 chr11 429780 429780 G A rs376910255 ANO9 Synonymous SNV F126F 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 9.257 219889 chr17 1959991 1959991 G A rs749739446 HIC1 Nonsynonymous SNV D22N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 219890 chr7 45111423 45111423 A G rs536387729 CCM2 Nonsynonymous SNV I216V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.68 219891 chr1 12089257 12089257 G A rs767728523 MIR6729 0.001 0 0 0 1 0 0 0 0 0 0 0 3.465 219892 chr14 102551255 102551260 TTCTTT - rs569990167 HSP90AA1 K247_E248del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 219893 chr10 95380739 95380739 T C PDE6C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 219894 chr7 66273950 66273950 G A RABGEF1 Nonsynonymous SNV M178I 0.002 0 0 0 2 0 0 0 1 0 0 0 28.5 219895 chr14 94696968 94696968 G A rs114301037 PPP4R4 Synonymous SNV A32A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.363 219896 chr14 103405991 103405991 T C rs767750407 CDC42BPB Nonsynonymous SNV M1595V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.77 219897 chr1 150445296 150445307 CTCCACCCCCTC - rs761428712 RPRD2 P1269_P1272del 0.002 0 0 0 2 0 0 0 0 0 0 0 219898 chr10 97131151 97131151 T C rs1034676318 SORBS1 Nonsynonymous SNV T390A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.284 219899 chr7 73457354 73457354 A G rs61734587 ELN Synonymous SNV G112G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.73 219900 chr7 156971459 156971459 G A UBE3C Synonymous SNV E178E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.103 219901 chr17 27042108 27042108 G T rs149679668 RAB34 Nonsynonymous SNV D182E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.363 219902 chr7 158473485 158473485 T C NCAPG2 Synonymous SNV Q316Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 219903 chr8 1857628 1857628 C T rs201394769 ARHGEF10 Nonsynonymous SNV A674V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.41 219904 chr3 196460631 196460631 T C rs751717737 PIGX Nonsynonymous SNV V212A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.16 219905 chr8 3351178 3351178 C G CSMD1 Nonsynonymous SNV G472A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 219906 chr3 21447407 21447407 C T rs35986875 VENTXP7 0 0 0.02 0 0 0 0 6 0 0 1 0 0.354 219907 chr3 32995457 32995457 G A rs139338126 CCR4 Synonymous SNV E181E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.754 219908 chr3 33134337 33134337 G A rs202212082 TMPPE Nonsynonymous SNV R451W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 219909 chr10 105233090 105233090 C T rs201909775 CALHM3 Stop gain W305X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 219910 chr17 35536327 35536327 C T rs561656720 ACACA Synonymous SNV E1556E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 219911 chr14 105614511 105614511 G A rs370526870 JAG2 Synonymous SNV S692S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.121 219912 chr7 99051675 99051675 G A rs780938148 CPSF4 Nonsynonymous SNV R163H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.036 219913 chr17 38976888 38976888 C T rs201691005 KRT10 Nonsynonymous SNV V248M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 219914 chr11 1016939 1016939 G A rs751140580 MUC6 Synonymous SNV T1954T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.394 219915 chr17 39135120 39135120 C T rs200984682 KRT40 Nonsynonymous SNV V378M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 219916 chr8 22459730 22459730 C T rs200298470 C8orf58 Nonsynonymous SNV P262S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.235 219917 chr3 47446552 47446552 C G PTPN23 Synonymous SNV A115A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 219918 chr17 39346559 39346559 C A KRTAP9-1 Nonsynonymous SNV P141T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.277 219919 chr10 126523333 126523333 C T rs35870438 ABRAXAS2 Synonymous SNV A347A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.73 219920 chr3 48658418 48658418 G A rs200993017 TMEM89 Nonsynonymous SNV R113W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 219921 chr8 25718722 25718722 G C rs17054490 EBF2 Synonymous SNV A395A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.95 219922 chr1 103477999 103477999 T G COL11A1 Synonymous SNV P417P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.61 219923 chr3 49751230 49751230 C T rs148034082 RNF123 Nonsynonymous SNV R937W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 219924 chr1 161681905 161681905 C - rs780458485 FCRLA T89Qfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 219925 chr3 50324180 50324180 T A rs782598557 LSMEM2 Nonsynonymous SNV L82Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 219926 chr8 30706690 30706690 C T rs565850499 TEX15 Synonymous SNV E331E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 219927 chr1 168054870 168054870 C T rs759173797 GPR161 Nonsynonymous SNV G419S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.952 219928 chr8 42611429 42611429 C T CHRNA6 Nonsynonymous SNV E290K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 219929 chr7 101845064 101845064 G A rs782580069 CUX1 Synonymous SNV Q840Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.013 219930 chr7 102579947 102579947 C T rs144200223 LRRC17 Synonymous SNV N281N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.75 219931 chr7 105902124 105902124 A G rs137878255 NAMPT Synonymous SNV P333P 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 3.931 219932 chr11 392688 392688 G A rs576661083 PKP3 Nonsynonymous SNV G21R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.759 219933 chr1 173567059 173567059 T G SLC9C2 Nonsynonymous SNV K114T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 219934 chr1 173947651 173947651 C T rs753874089 RC3H1 Synonymous SNV L359L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.09 219935 chr11 562360 562360 C T rs572336426 RASSF7 Nonsynonymous SNV L136F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.634 219936 chr1 115401191 115401191 G A rs142545862 SYCP1 Synonymous SNV V105V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Benign 0.369 219937 chr3 68929912 68929912 G A rs778653238 TAFA4 Synonymous SNV S33S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 219938 chr7 127963597 127963597 T G rs138703329 RBM28 Nonsynonymous SNV M322L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 18.54 219939 chr17 4575767 4575767 G A rs757414848 PELP1 Nonsynonymous SNV P840L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.3 219940 chr8 88886129 88886129 T C rs201360831 DCAF4L2 Nonsynonymous SNV N24S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 219941 chr17 46846393 46846393 G A rs148354436 TTLL6 Synonymous SNV S571S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.549 219942 chr14 65008321 65008321 C T HSPA2 Nonsynonymous SNV H252Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 219943 chr1 180885980 180885980 C T rs374668814 KIAA1614 Synonymous SNV G247G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.536 219944 chr17 48156540 48156540 C T rs140248487 ITGA3 Nonsynonymous SNV T834M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 219945 chr1 1267628 1267628 C T rs770061346 TAS1R3 Synonymous SNV H239H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.718 219946 chr1 12820789 12820789 T C rs201805713 C1orf158 Nonsynonymous SNV S126P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.69 219947 chr17 48628401 48628401 C T rs149834493 SPATA20 Nonsynonymous SNV R460W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 35 219948 chr17 4883069 4883069 G A rs755999846 CAMTA2 Synonymous SNV D518D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 219949 chr11 1075685 1075685 C T rs72652890 MUC2 Synonymous SNV C37C 0.003 0 0.003 0 4 0 0 1 0 0 0 0 10.87 219950 chr17 55927366 55927366 T G rs775066859 MRPS23 Synonymous SNV A2A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.352 219951 chr8 132052189 132052189 G T rs759866296 ADCY8 Nonsynonymous SNV H131N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 219952 chr4 122728719 122728719 G T EXOSC9 Nonsynonymous SNV V183L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 219953 chr7 149475056 149475056 G A rs200849829 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 219954 chr4 126238164 126238164 C T FAT4 Synonymous SNV L200L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 219955 chr4 126372412 126372412 G C FAT4 Nonsynonymous SNV S3416T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 219956 chr11 3125609 3125609 T G rs749195547 OSBPL5 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 219957 chr4 13545719 13545719 C T NKX3-2 Nonsynonymous SNV C107Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 219958 chr7 150813920 150813920 C T rs368600470 AGAP3 Synonymous SNV S124S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 219959 chr4 148787937 148787937 C T rs773514097 ARHGAP10 Synonymous SNV Y224Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 219960 chr15 85401705 85401705 G A rs765178304 ALPK3 Nonsynonymous SNV G1246S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.908 219961 chr15 86312509 86312509 G A rs146044254 KLHL25 Nonsynonymous SNV T178M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 219962 chr4 15529159 15529159 A C rs757990480 CC2D2A Nonsynonymous SNV L413F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 219963 chr1 157490309 157490309 A C rs771319382 FCRL5 Nonsynonymous SNV F848L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.191 219964 chr11 63671570 63671570 G A rs199756433 MARK2 Nonsynonymous SNV A543T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.64 219965 chr4 1643304 1643304 G A rs140218167 FAM53A Nonsynonymous SNV L305F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 219966 chr1 207649676 207649676 C A CR2 Nonsynonymous SNV S879R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 219967 chr4 165878621 165878621 G A rs767479404 FAM218A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 219968 chr11 5510027 5510027 G A rs372182459 OR52D1 Nonsynonymous SNV A31T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 219969 chr1 20980168 20980168 C G rs145327708 DDOST Synonymous SNV R315R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 219970 chr11 64023226 64023226 G C PLCB3 Nonsynonymous SNV E144Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 219971 chr11 5510814 5510814 C T rs148339356 OR52D1 Nonsynonymous SNV P293L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 219972 chr8 145667688 145667688 C T rs755568862 TONSL Nonsynonymous SNV R229Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29 219973 chr8 11177254 11177254 A T rs754607907 MTMR9 Nonsynonymous SNV S465C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 219974 chr15 101114103 101114103 C T rs377267845 LINS1 Synonymous SNV P325P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.392 219975 chr8 17573400 17573400 G A rs373457770 MTUS1 Synonymous SNV A67A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 219976 chr15 102192526 102192526 G A rs757635357 TM2D3 Synonymous SNV A13A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.596 219977 chr1 221912496 221912496 G A rs748076536 DUSP10 Synonymous SNV A197A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.72 219978 chr9 13183538 13183538 G T MPDZ Nonsynonymous SNV S843Y 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 219979 chr8 17824593 17824593 G A PCM1 Nonsynonymous SNV S1109N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 219980 chr8 22428678 22428678 - C SORBS3 Frameshift insertion R223Pfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 219981 chr4 38869742 38869742 A G rs368340617 MIR574 0 0 0.007 0 0 0 0 2 0 0 0 0 11.46 219982 chr15 43814657 43814657 C T rs139538952 MAP1A Nonsynonymous SNV T329M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 219983 chr8 30924692 30924692 T C WRN Synonymous SNV D216D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.419 219984 chr16 2946541 2946541 G A rs142111061 FLYWCH2 Nonsynonymous SNV A31T 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 9.793 219985 chr16 3074351 3074351 G C rs774920297 THOC6 Synonymous SNV A8A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.447 219986 chr8 38287254 38287254 C T rs55642501 FGFR1 Nonsynonymous SNV V102I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.79 219987 chr11 72413997 72413997 G A rs150013910 ARAP1 Nonsynonymous SNV A401V 0 0 0.01 1 0 0 0.003 3 0 0 0 0 14.02 219988 chr4 53740164 53740164 - CAGTTG SCFD2 T675_D676insAT 0 0 0.003 0 0 0 0 1 0 0 0 0 219989 chr4 54343006 54343006 G A rs564327612 LNX1 Synonymous SNV S506S 0 0 0.007 0 0 0 0 2 0 0 0 0 5.366 219990 chr8 43054684 43054684 A G rs192857413 HGSNAT Nonsynonymous SNV Y563C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 219991 chr8 53477798 53477798 C G rs113517128 ALKAL1 Nonsynonymous SNV G7R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 219992 chr8 61766968 61766968 T C rs61743849 CHD7 Synonymous SNV A2274A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.322 219993 chr9 96051869 96051869 G A rs760839204 WNK2 Synonymous SNV A1611A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.841 219994 chr8 69031721 69031721 A T PREX2 Nonsynonymous SNV H1159L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 219995 chr11 18751021 18751021 G A rs768732640 PTPN5 Nonsynonymous SNV T504M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 219996 chr11 800164 800164 G A rs758610886 PIDD1 Synonymous SNV A747A 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 10.83 219997 chr11 85593615 85593615 T A rs201110814 CCDC83 Nonsynonymous SNV S80R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.198 219998 chr8 91837018 91837018 C T rs199995506 NECAB1 Synonymous SNV H66H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 219999 chr11 27520300 27520300 G C LIN7C Nonsynonymous SNV Q164E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 220000 chr4 77288686 77288686 G T CCDC158 Nonsynonymous SNV Q531K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 220001 chr9 111617827 111617827 G T rs116502729 ACTL7B Nonsynonymous SNV D128E 0 0.005 0 0 0 2 0 0 0 0 0 0 16.76 220002 chr8 100148968 100148968 A G rs142971568 VPS13B Nonsynonymous SNV T547A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.736 220003 chr15 74219345 74219345 G C LOXL1 Nonsynonymous SNV R74P 0 0 0 1 0 0 0.003 0 0 0 0 0 29 220004 chr15 74325040 74325040 G C rs148158604 PML Nonsynonymous SNV G461A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 220005 chr11 44080142 44080142 G A rs746976918 ACCSL Nonsynonymous SNV R506H 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 220006 chr18 29672797 29672797 G A rs762391892 RNF138 Nonsynonymous SNV V20I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 220007 chr4 83793116 83793116 C A rs748535839 SEC31A Nonsynonymous SNV V250F 0 0 0.007 0 0 0 0 2 0 0 0 0 28.2 220008 chr8 113349903 113349903 C T rs138248671 CSMD3 Nonsynonymous SNV G2037D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 220009 chr18 3090751 3090751 A G rs376804166 MYOM1 Nonsynonymous SNV M1209T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 220010 chr16 27518445 27518445 G A rs138991438 GTF3C1 Synonymous SNV T425T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.34 220011 chr16 27709661 27709661 G A rs373561292 KIAA0556 Nonsynonymous SNV R318Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 220012 chr8 121824011 121824011 G T rs138763501 SNTB1 Nonsynonymous SNV L25M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.5 220013 chr18 33738805 33738805 G C rs117536068 ELP2 Nonsynonymous SNV S421T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.088 220014 chr4 87706460 87706460 G A rs200117330 PTPN13 Synonymous SNV V1874V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12.38 220015 chr16 30435791 30435791 A C DCTPP1 Synonymous SNV L92L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.007 220016 chr12 105514965 105514965 C T rs745724124 WASHC4 Synonymous SNV H216H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.87 220017 chr1 2939118 2939118 G A rs142480863 ACTRT2 Nonsynonymous SNV D290N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 220018 chr5 111755743 111755743 C T rs781096980 EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 220019 chr16 57562541 57562541 C T rs146791662 CCDC102A Synonymous SNV V183V 0 0 0.014 1 0 0 0.003 4 0 0 0 0 10.8 220020 chr1 32713033 32713033 G A rs41264003 FAM167B Nonsynonymous SNV G4E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 220021 chr16 58072225 58072225 G A rs376443727 MMP15 Nonsynonymous SNV A123T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.13 220022 chr9 130289590 130289590 G A rs533673621 NIBAN2 Synonymous SNV D53D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.484 220023 chr5 127872143 127872145 AGT - rs555068280 FBN2 Y96del 0 0 0.003 0 0 0 0 1 0 0 0 0 220024 chr5 129521076 129521076 T C rs116529123 CHSY3 Synonymous SNV F747F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.574 220025 chr5 131755545 131755545 C T rs376087038 C5orf56 0 0 0.003 0 0 0 0 1 0 0 0 0 0.407 220026 chr1 3649359 3649359 C T rs769290913 TP73 Nonsynonymous SNV R413W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 220027 chr1 3679252 3679252 G A rs139134726 CCDC27 Synonymous SNV E310E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.537 220028 chr18 6873455 6873455 T A rs769822230 ARHGAP28 Nonsynonymous SNV D175E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 220029 chr9 133907491 133907491 C T rs778312863 LAMC3 Synonymous SNV D246D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.21 220030 chr5 138852220 138852220 G A rs998557637 SMIM33 Nonsynonymous SNV R38Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 220031 chr9 134350276 134350276 C T rs189513409 PRRC2B Synonymous SNV P920P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.674 220032 chr9 134382804 134382804 C G rs138064523 POMT1 Synonymous SNV L56L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.177 220033 chr5 140187162 140187162 G T rs550530931 PCDHA4 Synonymous SNV P130P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.899 220034 chr1 225541533 225541533 G A rs192354509 DNAH14 Synonymous SNV T3854T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.04 220035 chr9 135777055 135777055 G A rs756514375 TSC1 Nonsynonymous SNV A757V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 19.48 220036 chr9 136905302 136905307 CTTCTC - rs773055694 BRD3 E498_K499del 0 0.003 0 0 0 1 0 0 0 0 0 0 220037 chr12 124414233 124414233 C T rs749728697 DNAH10 Nonsynonymous SNV T4062M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 220038 chr9 4117969 4117969 G A rs141125402 GLIS3 Synonymous SNV R348R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.508 220039 chr16 1997284 1997284 C T rs141796888 RPL3L Nonsynonymous SNV R200Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 21.6 220040 chr9 139094878 139094878 G A rs375579333 LHX3 Nonsynonymous SNV A3V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 220041 chr16 84024175 84024175 C T rs775631211 NECAB2 Nonsynonymous SNV S96L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 220042 chr5 141248737 141248737 G A rs369703826 PCDH1 Synonymous SNV R116R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.405 220043 chr9 14113010 14113010 T G NFIB Synonymous SNV L233L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.007 220044 chr5 148630960 148630960 C T rs1055325567 ABLIM3 Synonymous SNV N498N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 220045 chr1 55081841 55081841 G C rs142814457 FAM151A Nonsynonymous SNV N89K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.206 220046 chr9 140330725 140330725 G A rs763650113 ENTPD8 Nonsynonymous SNV R264C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.19 220047 chr1 55529084 55529084 A C PCSK9 Nonsynonymous SNV S636R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 220048 chr9 141013135 141013135 G A rs200719516 CACNA1B Nonsynonymous SNV R1982Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.944 220049 chr10 3823933 3823933 G A rs144111350 KLF6 Synonymous SNV S192S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.026 220050 chr11 63398617 63398617 T C rs189119869 ATL3 Synonymous SNV G460G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.206 220051 chr11 63681504 63681504 C T rs140107613 RCOR2 Synonymous SNV T271T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 220052 chr5 16701709 16701709 T C rs757770056 MYO10 Nonsynonymous SNV E932G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 220053 chr17 65529 65529 C A RPH3AL Nonsynonymous SNV Q235H 0 0 0 2 0 0 0.005 0 0 0 0 0 26.2 220054 chr9 79929496 79929496 C T VPS13A Nonsynonymous SNV T1404I 0.001 0 0 0 1 0 0 0 0 0 0 0 28 220055 chr5 172110894 172110894 A G rs529582054 NEURL1B Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.9 220056 chr10 17126389 17126389 A G rs147752521 CUBN Nonsynonymous SNV F728L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.08 220057 chr10 17271651 17271651 T G rs11545548 VIM Nonsynonymous SNV V77G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 220058 chr17 1634127 1634127 C T rs199995527 WDR81 Nonsynonymous SNV P82L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.7 220059 chr11 65381112 65381112 G T MAP3K11 Nonsynonymous SNV A39E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 220060 chr9 96847544 96847544 C T rs148472080 PTPDC1 Nonsynonymous SNV R86C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 220061 chr9 98734989 98734989 A T rs943724664 ERCC6L2 Nonsynonymous SNV I997F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 220062 chr5 180056394 180056394 A G FLT4 Nonsynonymous SNV S284P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 220063 chr11 67206223 67206223 C T rs560903102 CORO1B Synonymous SNV P421P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 220064 chr1 881815 881815 C T rs746268860 NOC2L Synonymous SNV R590R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.65 220065 chr9 101981024 101981024 T C rs369670496 ALG2 Nonsynonymous SNV D148G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.03 220066 chr5 180551570 180551570 G A OR2V1 Synonymous SNV H245H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 220067 chr11 68696655 68696655 G T IGHMBP2 Synonymous SNV A355A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.301 220068 chr19 20308082 20308103 ACAAAGCTTTTAACCAGTCCTC - ZNF486 D188Efs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 220069 chr19 20308109 20308146 ATACTACACATAAAAAAATTGATACTGGAGAGAAACCA - rs781875934 ZNF486 H197Lfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 220070 chr1 906312 906312 C T rs201987388 PLEKHN1 Nonsynonymous SNV R180C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.85 220071 chr11 73067231 73067231 G A rs199586047 ARHGEF17 Synonymous SNV K1225K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.08 220072 chr1 949783 949783 C T rs772678258 ISG15 Synonymous SNV G141G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.14 220073 chr17 7324336 7324336 T A rs772124452 SPEM1 Synonymous SNV R114R 0 0 0 2 0 0 0.005 0 0 0 0 0 2.427 220074 chr9 116812267 116812267 C T rs369486118 ZNF618 Synonymous SNV C862C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.99 220075 chr17 7416620 7416620 A G rs529427848 POLR2A Synonymous SNV S1679S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.049 220076 chr20 1234973 1234973 C T rs774307861 RAD21L1 Stop gain R515X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 220077 chr17 7829031 7829031 G A rs61745617 KCNAB3 Stop gain R170X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 38 220078 chr11 94330978 94330978 A G rs112072842 PIWIL4 Nonsynonymous SNV N426S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.852 220079 chr9 126214606 126214606 C T DENND1A Synonymous SNV L384L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 220080 chr10 72520266 72520266 C T rs150863733 ADAMTS14 Nonsynonymous SNV S1110L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 220081 chr11 103059294 103059294 G A rs371948128 DYNC2H1 Synonymous SNV V2403V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 220082 chr9 127083752 127083752 A G rs199829118 NEK6 Synonymous SNV P121P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.487 220083 chr17 12899915 12899915 C T rs773774169 ELAC2 Synonymous SNV L496L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.04 220084 chr11 107375679 107375679 C T rs188662625 ALKBH8 Nonsynonymous SNV G570E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 220085 chr10 73450270 73450270 G A rs546708250 CDH23 Nonsynonymous SNV R702Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 220086 chr17 15989674 15989674 C A rs747290065 NCOR1 Synonymous SNV P1049P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.357 220087 chr11 120312447 120312447 T C ARHGEF12 Nonsynonymous SNV I356T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 220088 chr10 74884023 74884023 A G NUDT13 Nonsynonymous SNV E137G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 220089 chr10 74928099 74928099 T G rs569932117 FAM149B1 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 220090 chr11 111395628 111395628 C T rs918329354 C11orf88 Synonymous SNV T120T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.028 220091 chr9 130566678 130566678 C T rs41306702 FPGS Nonsynonymous SNV R35W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 220092 chr20 2644645 2644645 C A IDH3B Nonsynonymous SNV V15F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 220093 chr20 3025471 3025471 C T rs754629027 GNRH2 Nonsynonymous SNV R101W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 220094 chr19 38376722 38376722 C T rs778429074 WDR87 Stop gain W2530X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 35 220095 chr9 131939192 131939192 C T IER5L Synonymous SNV P380P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 220096 chr17 19285572 19285572 C T rs772589753 MAPK7 Synonymous SNV P513P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.996 220097 chr19 38384611 38384611 A C rs756661455 WDR87 Nonsynonymous SNV C578G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.5 220098 chr20 32232378 32232378 G A rs576506202 CBFA2T2 Nonsynonymous SNV D572N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 220099 chr20 32369121 32369121 C T rs376598954 ZNF341 Synonymous SNV Y459Y 0.002 0 0 0 2 0 0 0 0 0 0 0 8.201 220100 chr19 38876431 38876431 C T rs200124007 GGN Nonsynonymous SNV D491N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 16.87 220101 chr10 92635848 92635848 A G rs775920689 RPP30 Nonsynonymous SNV N88S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 220102 chr6 107955650 107955650 G A SOBP Synonymous SNV P534P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 220103 chr6 109802997 109802997 A G rs768303189 ZBTB24 Nonsynonymous SNV M78T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 220104 chr6 110098181 110098181 - GGAA rs775015373 FIG4 Frameshift insertion P605Efs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 220105 chr17 27239631 27239631 G A rs768906971 PHF12 Nonsynonymous SNV P653L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.21 220106 chr10 98362108 98362108 T G rs958439066 PIK3AP1 Synonymous SNV P763P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.345 220107 chr19 41019255 41019255 G A SPTBN4 Synonymous SNV Q853Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.339 220108 chr20 43118038 43118038 C T rs75021846 TTPAL Synonymous SNV D295D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 220109 chr11 124791308 124791308 G T rs1057524812 HEPACAM Nonsynonymous SNV A326D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.31 220110 chr6 125232094 125232094 T C rs756710372 RNF217-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.045 220111 chr6 127837237 127837237 C T rs572053015 SOGA3 Nonsynonymous SNV G175R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.3 220112 chr6 129761984 129761984 G C LAMA2 Nonsynonymous SNV V2037L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 220113 chr11 130011907 130011907 G A rs367626362 APLP2 Nonsynonymous SNV V469I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 220114 chr11 130060371 130060371 C T rs143342490 ST14 Synonymous SNV H219H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.56 220115 chr20 46365659 46365659 C A SULF2 Nonsynonymous SNV R68L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 220116 chr6 134824009 134824009 T C rs1025399394 LINC01010 0 0 0.003 0 0 0 0 1 0 0 0 0 5.408 220117 chr6 136901509 136901509 C T rs148626721 MAP3K5 Synonymous SNV P1149P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 220118 chr10 106128211 106128211 G C rs747232587 CFAP58 Nonsynonymous SNV E275Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 220119 chr10 106976765 106976765 C T rs769839255 SORCS3 Synonymous SNV S873S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.5 220120 chr10 115341882 115341882 C T HABP2 Synonymous SNV H336H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 220121 chr20 5170459 5170459 A C CDS2 Nonsynonymous SNV N394H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.676 220122 chr17 38451656 38451656 C T rs143357695 CDC6 Nonsynonymous SNV R378C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 220123 chr6 145069583 145069583 G A rs141157215 UTRN Nonsynonymous SNV R2714Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 220124 chr17 38609369 38609369 C T rs745961147 IGFBP4 Nonsynonymous SNV A161V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 220125 chr6 149782991 149782991 G A rs534055400 ZC3H12D Nonsynonymous SNV P141S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.973 220126 chr17 39092640 39092640 C T rs142531226 KRT23 Synonymous SNV G72G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.594 220127 chr6 151673521 151673521 C T rs199557720 AKAP12 Nonsynonymous SNV P1227L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.85 220128 chr20 60575264 60575264 A G rs201337718 TAF4 Synonymous SNV Y901Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.623 220129 chr20 60887343 60887343 G A rs138705828 LAMA5 Synonymous SNV H3130H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.753 220130 chr10 126694168 126694168 C A rs758496081 CTBP2 Synonymous SNV G70G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.972 220131 chr6 160481598 160481598 C T rs373179443 IGF2R Synonymous SNV I1037I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.47 220132 chr6 161022108 161022108 G T rs186072375 LPA Synonymous SNV R990R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.59 220133 chr1 908879 908879 G A rs781207420 PLEKHN1 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 220134 chr10 23319653 23319653 T C rs149194693 ARMC3 Nonsynonymous SNV M462T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 220135 chr17 40695562 40695562 A G rs200465065 NAGLU Nonsynonymous SNV N513S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 220136 chr1 915092 915092 C T rs1006299276 PERM1 Nonsynonymous SNV E440K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.862 220137 chr17 41001727 41001730 AATG - AOC2 N635Kfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 220138 chr20 62198793 62198793 G A rs371789234 HELZ2 Nonsynonymous SNV R71W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 220139 chr20 62236174 62236174 T C rs759658022 GMEB2 Nonsynonymous SNV N51D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.811 220140 chr10 134230571 134230571 G A rs201633507 PWWP2B Nonsynonymous SNV R498Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.227 220141 chr20 62328115 62328115 A G rs758568327 RTEL1-TNFRSF6B 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 220142 chr10 33475257 33475257 C T rs554872876 NRP1 Nonsynonymous SNV R735H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 220143 chr10 135106544 135106544 G A rs151077269 TUBGCP2 Synonymous SNV L211L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.811 220144 chr1 979269 979269 G A rs140789461 AGRN Nonsynonymous SNV R622Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 220145 chr21 16337216 16337216 A G rs148048455 NRIP1 Nonsynonymous SNV S1100P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 220146 chr21 33733355 33733355 C T URB1 Nonsynonymous SNV V573I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 220147 chr6 33555590 33555590 G T rs185875592 LINC00336 0 0 0.003 0 0 0 0 1 0 0 0 0 5.335 220148 chr12 32908353 32908353 C T rs201940521 YARS2 Synonymous SNV A152A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.54 220149 chr12 32908705 32908705 G T rs149447502 YARS2 Nonsynonymous SNV A35D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.765 220150 chr21 40574364 40574364 T C BRWD1 Nonsynonymous SNV K1491R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 220151 chr17 62049542 62049542 C T rs367988986 SCN4A Nonsynonymous SNV V146I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 16.53 220152 chr13 96599321 96599321 A G UGGT2 Synonymous SNV D549D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 220153 chr6 43581843 43581843 C T rs147968005 POLH Nonsynonymous SNV P440L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 220154 chr12 49441822 49441822 G A rs767110613 KMT2D Nonsynonymous SNV R1388W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 220155 chr6 44221959 44221959 - G MIR4647 0 0 0.003 0 0 0 0 1 0 0 0 0 220156 chr17 72769124 72769124 G A rs200888137 NAT9 Nonsynonymous SNV T51I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.64 220157 chr12 50749628 50749628 T C rs553702492 FAM186A Synonymous SNV Q329Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 220158 chr17 72846373 72846373 C T rs778852318 GRIN2C Nonsynonymous SNV R488H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.4 220159 chr14 103410685 103410685 G A CDC42BPB Synonymous SNV S1317S 0 0 0 3 0 0 0.008 0 0 0 0 0 5.004 220160 chr14 104570977 104570977 G A rs537937943 ASPG Nonsynonymous SNV V319I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.33 220161 chr21 47412121 47412121 C T rs765826390 COL6A1 Nonsynonymous SNV A409V 0.003 0 0 0 3 0 0 0 0 0 0 0 19.48 220162 chr10 91353050 91353050 C T PANK1 Synonymous SNV K221K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 220163 chr6 51890542 51890542 G A rs372739336 PKHD1 Nonsynonymous SNV L1356F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 220164 chr6 55966308 55966308 G T rs746174950 COL21A1 Nonsynonymous SNV P589T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 220165 chr17 75208260 75208260 T C SEC14L1 Nonsynonymous SNV C580R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 220166 chr6 69949023 69949023 C T rs145280281 ADGRB3 Nonsynonymous SNV R907C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 220167 chr11 3688645 3688645 C T rs773474519 CHRNA10 Nonsynonymous SNV A32T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 220168 chr22 18324613 18324613 C T MICAL3 Nonsynonymous SNV G926S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 220169 chr11 3849258 3849258 G A rs372569078 RHOG Synonymous SNV F37F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.552 220170 chr11 4471463 4471463 C A rs780862831 OR52K2 Synonymous SNV T298T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.19 220171 chr22 20784839 20784839 T C SCARF2 Nonsynonymous SNV E360G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 220172 chr11 4842862 4842862 A G rs61741857 OR51F2 Nonsynonymous SNV T71A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 220173 chr11 4842914 4842914 G T rs61743166 OR51F2 Nonsynonymous SNV W88L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 220174 chr10 100017903 100017903 G A rs539583826 LOXL4 Nonsynonymous SNV R314C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 220175 chr14 21486387 21486387 G A rs4981349 NDRG2 Synonymous SNV S287S 0.003 0.008 0 3 4 3 0.008 0 0 0 0 0 11.1 220176 chr10 100249925 100249925 C T rs778752620 HPSE2 Nonsynonymous SNV R338H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 220177 chr20 52192436 52192436 G A ZNF217 Nonsynonymous SNV P956L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 220178 chr20 52192669 52192669 G C ZNF217 Nonsynonymous SNV I878M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.546 220179 chr20 5559068 5559068 C T rs774526757 GPCPD1 Synonymous SNV T221T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 220180 chr14 21861747 21861747 C T rs370827611 CHD8 Synonymous SNV S2069S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.2 220181 chr10 103345171 103345171 C A POLL Stop gain E159X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 220182 chr6 86181106 86181106 C T rs757840941 NT5E Synonymous SNV V238V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 220183 chr10 104230641 104230641 C T MFSD13A Synonymous SNV H157H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.3 220184 chr10 104493338 104493338 C T rs151088981 SFXN2 Stop gain Q267X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 220185 chr12 57496252 57496252 G A rs763703926 STAT6 Nonsynonymous SNV R335W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 220186 chr6 99856146 99856146 G A rs779611358 PNISR Synonymous SNV D225D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.864 220187 chr22 28194067 28194067 T C MN1 Nonsynonymous SNV Q822R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 220188 chr17 79517968 79517968 G A FAAP100 Synonymous SNV V184V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.746 220189 chr22 30771610 30771610 G A rs747484350 CCDC157 Nonsynonymous SNV M605I 0.001 0 0 0 1 0 0 0 0 0 0 0 25 220190 chr12 68708979 68708979 G A rs139553308 MDM1 Synonymous SNV I136I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.01 220191 chr10 116245081 116245081 C T rs12261639 ABLIM1 Nonsynonymous SNV R51H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 220192 chr12 80730245 80730245 C T rs368610243 OTOGL Synonymous SNV N1542N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.81 220193 chr12 101577913 101577913 T C SLC5A8 Nonsynonymous SNV S351G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 220194 chr22 33670575 33670575 C T LARGE1 Nonsynonymous SNV M703I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 220195 chr22 36055151 36055151 T C rs372885775 APOL6 Synonymous SNV Y180Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 220196 chr22 36140258 36140258 G A rs745789605 RBFOX2 Nonsynonymous SNV P366L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.508 220197 chr14 51345491 51345491 G T rs747489172 ABHD12B Nonsynonymous SNV K87N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 220198 chr18 11886987 11886987 - GG rs561966131 MPPE1 Frameshift insertion G203Pfs*20 0.001 0 0 1 1 0 0.003 0 0 0 0 0 220199 chr18 11886989 11886989 T - rs570653089 MPPE1 D202Vfs*20 0.001 0 0 1 1 0 0.003 0 0 0 0 0 220200 chr22 38086725 38086725 G A rs145024039 NOL12 Nonsynonymous SNV E135K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.42 220201 chr7 100686033 100686033 T - rs771568271 MUC17 Y3780Tfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 220202 chr22 38323452 38323452 G A rs201808090 MICALL1 Synonymous SNV P500P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.67 220203 chr18 19378178 19378178 A G rs138693285 MIB1 Nonsynonymous SNV N409S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.97 220204 chr10 134726165 134726165 C T rs201445318 CFAP46 Synonymous SNV A831A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.07 220205 chr18 29429564 29429564 T C rs764212431 TRAPPC8 Nonsynonymous SNV S1234G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.04 220206 chr10 135020801 135020801 C A KNDC1 Nonsynonymous SNV A1247D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 220207 chr18 31325605 31325605 T C ASXL3 Synonymous SNV F1931F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.176 220208 chr12 120606016 120606016 C T GCN1 Synonymous SNV E536E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 220209 chr7 124487045 124487045 T C POT1 Synonymous SNV G188G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.036 220210 chr7 12683807 12683807 C G rs186991856 SCIN Synonymous SNV V295V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.13 220211 chr12 120998533 120998533 A G rs150600491 RNF10 Synonymous SNV E324E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.888 220212 chr12 121013621 121013621 C T rs752952458 RNF10 Nonsynonymous SNV P748S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.4 220213 chr7 128478828 128478828 G T rs377587489 FLNC Nonsynonymous SNV R461L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 220214 chr12 123036201 123036201 T C KNTC1 Synonymous SNV A410A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.647 220215 chr7 134718954 134718954 C T rs74319573 AGBL3 Synonymous SNV H204H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.485 220216 chr11 30032723 30032723 C T rs374154145 KCNA4 Synonymous SNV A501A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.553 220217 chr11 30937258 30937258 G A DCDC1 Synonymous SNV S258S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.615 220218 chr11 1017187 1017187 T C rs760589195 MUC6 Nonsynonymous SNV M1872V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 220219 chr1 109276080 109276080 T C FNDC7 Nonsynonymous SNV V689A 0.001 0 0 0 1 0 0 0 0 0 0 0 26 220220 chr7 141672881 141672881 C A rs782694569 TAS2R38 Synonymous SNV V203V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.383 220221 chr11 46791550 46791550 C T rs755221594 CKAP5 Nonsynonymous SNV M1095I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.34 220222 chr7 148485705 148485705 C T rs372179870 CUL1 Synonymous SNV G512G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.4 220223 chr11 47459554 47459554 C T rs528442857 RAPSN Nonsynonymous SNV R345H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 220224 chr18 77659278 77659278 G A rs984754099 KCNG2 Nonsynonymous SNV R288Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 220225 chr11 1271847 1271847 C G rs76174982 MUC5B Synonymous SNV A4579A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.019 220226 chr11 1585190 1585190 C A rs758085629 DUSP8 Synonymous SNV V87V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.02 220227 chr2 120078771 120078786 AAAGGGATATCTACAA - rs571735372 C2orf76 D45Efs*17 0.003 0 0 0 3 0 0 0 0 0 0 0 220228 chr15 102255128 102255128 T C rs575396147 TARS3 Nonsynonymous SNV N202S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 220229 chr1 117552616 117552616 C T rs765669584 CD101 Nonsynonymous SNV P63L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 220230 chr1 117635504 117635504 G A rs143131893 TTF2 Nonsynonymous SNV G986D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.554 220231 chr2 129075985 129075985 G T rs776047646 HS6ST1 Synonymous SNV P51P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.47 220232 chr19 1295769 1295769 G A rs371700314 EFNA2 Synonymous SNV G122G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.6 220233 chr1 119964901 119964901 G A rs33926546 HSD3B2 Synonymous SNV T259T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 12.35 220234 chr11 55111241 55111241 G T rs144365049 OR4A16 Nonsynonymous SNV D189Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24 220235 chr2 137814135 137814135 A G THSD7B Synonymous SNV R95R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.747 220236 chr7 20689690 20689690 G A rs372984477 ABCB5 Nonsynonymous SNV A418T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 220237 chr19 2251305 2251305 G A AMH Synonymous SNV E344E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.77 220238 chr1 1277833 1277833 G A rs145496306 DVL1 Nonsynonymous SNV A91V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 12.82 220239 chr2 152293502 152293502 C T rs772226125 RIF1 Nonsynonymous SNV L453F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 220240 chr15 40094438 40094438 T C rs768880892 GPR176 Nonsynonymous SNV Y103C 0 0 0 2 0 0 0.005 0 0 0 0 0 26.3 220241 chr2 152419307 152419307 G C rs750141196 NEB Nonsynonymous SNV H4536D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.009 220242 chr2 155555719 155555719 C T rs762930583 KCNJ3 Synonymous SNV I144I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.32 220243 chr7 2748732 2748732 C T rs767911544 AMZ1 Nonsynonymous SNV R209W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.9 220244 chr7 30490956 30490956 T C NOD1 Nonsynonymous SNV S693G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 220245 chr19 4174758 4174758 G A rs201141490 SIRT6 Synonymous SNV N209N 0 0 0 2 0 0 0.005 0 0 0 0 0 1.324 220246 chr15 41862346 41862346 G A rs55698899 TYRO3 Synonymous SNV T413T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 13.94 220247 chr7 3180566 3180566 T C rs545283928 LOC100129603 0 0 0.01 0 0 0 0 3 0 0 0 0 3.033 220248 chr2 166183402 166183402 G T rs796053190 SCN2A Nonsynonymous SNV S686I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.4 220249 chr19 4512603 4512603 T - rs775045044 PLIN4 T457Pfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 220250 chr11 6048082 6048082 C A rs139101039 OR56A1 Nonsynonymous SNV V285F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 220251 chr13 111109137 111109205 TGCCGGGCACCCATGGTGCCGATGCCCTGCGTCTGCGTGGAACCCCAGGCGTCCGTGGGGCTGATGCCC - COL4A2-AS2 Q289_R311del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 220252 chr15 42974370 42974370 G A STARD9 Nonsynonymous SNV V712I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.596 220253 chr2 167279929 167279929 A G rs372701938 SCN7A Nonsynonymous SNV I956T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 27.1 220254 chr2 168103665 168103665 C T rs894661734 XIRP2 Synonymous SNV D1699D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.47 220255 chr2 169733765 169733765 T C rs369220153 SPC25 Nonsynonymous SNV Y110C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 220256 chr11 6643298 6643298 G C rs143630838 DCHS1 Synonymous SNV P3203P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.215 220257 chr11 6647855 6647855 T A DCHS1 Nonsynonymous SNV T2098S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 220258 chr19 6735960 6735961 TG - GPR108 F83Lfs*28 0 0 0 1 0 0 0.003 0 0 0 0 0 220259 chr7 47467972 47467972 G A rs748482518 TNS3 Synonymous SNV G109G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 220260 chr19 7128877 7128877 T C INSR Synonymous SNV L965L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.596 220261 chr11 7110402 7110402 C G rs149945456 RBMXL2 Synonymous SNV L17L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.48 220262 chr11 7509658 7509658 G T rs184006858 OLFML1 Nonsynonymous SNV A144S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 220263 chr15 51289962 51289962 T G AP4E1 Nonsynonymous SNV V854G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 220264 chr11 11373623 11373623 G A rs556564067 CSNK2A3 Synonymous SNV S348S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.298 220265 chr11 61133638 61133638 C G TMEM138 Nonsynonymous SNV L26V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 220266 chr1 1565778 1565778 C T rs370381188 MIB2 Synonymous SNV P962P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.54 220267 chr1 156830911 156830911 T C rs766307207 NTRK1 Nonsynonymous SNV L62P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.9 220268 chr11 62294105 62294105 C T rs768095456 AHNAK Nonsynonymous SNV G2595D 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 220269 chr15 65308791 65308791 G A rs35302908 MTFMT Nonsynonymous SNV R266C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 35 220270 chr11 62417267 62417267 G C rs142715723 INTS5 Synonymous SNV T95T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.04 220271 chr2 190925020 190925020 T C rs775242311 MSTN Nonsynonymous SNV Q172R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.3 220272 chr15 68606164 68606164 G T rs199713744 ITGA11 Synonymous SNV A945A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.73 220273 chr2 198482574 198482574 T G rs149995388 RFTN2 Nonsynonymous SNV S334R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 220274 chr7 87069072 87069072 C G rs769122329 ABCB4 Nonsynonymous SNV V548L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 220275 chr1 160263218 160263218 A G rs375099053 COPA Synonymous SNV D913D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.234 220276 chr15 73617644 73617644 G A rs752953709 HCN4 Nonsynonymous SNV R578W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.7 220277 chr19 9524996 9524996 C T rs117092996 ZNF266 Nonsynonymous SNV R202H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 220278 chr11 64972273 64972273 C T rs777787068 CAPN1 Nonsynonymous SNV R429C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 220279 chr15 75116808 75116808 C T rs145179365 LMAN1L Synonymous SNV Y480Y 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 7.785 220280 chr7 99084689 99084689 A T ZNF789 Stop gain K269X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 220281 chr1 161989891 161989891 G A rs149753373 OLFML2B Nonsynonymous SNV R86W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 220282 chr19 10334910 10334910 G A rs73922356 S1PR2 Synonymous SNV A224A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.493 220283 chr19 10335333 10335333 G A rs73922357 S1PR2 Synonymous SNV G83G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.488 220284 chr1 1647873 1647873 G T rs199510897 CDK11A, CDK11B Synonymous SNV R124R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 9.738 220285 chr2 207171904 207171904 T C rs184499250 ZDBF2 Synonymous SNV T884T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.267 220286 chr19 10439351 10439351 C T rs114631061 RAVER1 Synonymous SNV A241A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.832 220287 chr19 10624765 10624765 A T rs149806324 S1PR5 Nonsynonymous SNV L308H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 28.1 220288 chr14 39901069 39901069 C G rs575062711 FBXO33 Nonsynonymous SNV E100Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.56 220289 chr19 10745559 10745559 C T SLC44A2 Synonymous SNV A315A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.31 220290 chr11 66260351 66260351 G A rs202008504 DPP3 Nonsynonymous SNV G355S 0 0.003 0 0 0 1 0 0 0 0 0 0 30 220291 chr19 11098412 11098412 C A rs146141457 SMARCA4 Synonymous SNV R310R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 13.33 220292 chr11 45827417 45827417 C T SLC35C1 Nonsynonymous SNV P22L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 220293 chr14 45695981 45695981 C G MIS18BP1 Nonsynonymous SNV R602T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 220294 chr14 50085586 50085586 G A rs17113515 RPL36AL Synonymous SNV S79S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.89 220295 chr8 10467637 10467637 - CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC RP1L1 E1323_E1324insGTKVIEGLQEERVQLEETKTEEGLQEEGVQLE 0 0 0.003 0 0 0 0 1 0 0 0 0 220296 chr11 46773016 46773016 C T rs143431133 CKAP5 Synonymous SNV L1674L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 220297 chr11 67163838 67163838 G A rs149796235 RAD9A Nonsynonymous SNV R204H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.601 220298 chr19 11475197 11475197 C A PLPPR2 Nonsynonymous SNV S372Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 220299 chr19 11546565 11546565 T C rs160913 CCDC151 Nonsynonymous SNV K10E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.919 220300 chr11 67812472 67812472 C A TCIRG1 Nonsynonymous SNV D140E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 220301 chr2 21236070 21236070 G A rs143282164 APOB Nonsynonymous SNV A1393V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 220302 chr11 47640398 47640398 T C rs73465610 MTCH2 Nonsynonymous SNV K291R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.255 220303 chr8 113988211 113988211 C G CSMD3 Synonymous SNV T399T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.351 220304 chr19 12574876 12574876 T C rs750142748 ZNF709 Synonymous SNV Q620Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 220305 chr19 13035333 13035333 C T rs762957147 FARSA Synonymous SNV T401T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.56 220306 chr2 218713596 218713596 G A rs758272676 TNS1 Synonymous SNV P423P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.502 220307 chr19 14083602 14083602 T C rs199969477 RFX1 Nonsynonymous SNV S423G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.53 220308 chr19 14294393 14294393 G C rs969655309 ADGRL1 Nonsynonymous SNV L8V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 220309 chr19 1440230 1440230 C G rs143917369 RPS15 Nonsynonymous SNV T101S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 220310 chr11 74208301 74208301 G A rs534466197 LOC100287896 Synonymous SNV E117E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.268 220311 chr19 15220060 15220060 C T rs149756333 SYDE1 Synonymous SNV T94T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.81 220312 chr1 179563001 179563001 A - TDRD5 G214Vfs*10 0.001 0 0.003 0 1 0 0 1 0 0 0 0 220313 chr2 220503484 220503484 C T rs760696205 SLC4A3 Synonymous SNV I999I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 220314 chr2 223793590 223793590 C T rs184474316 ACSL3 Synonymous SNV Y492Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 220315 chr11 95522622 95522622 G A rs563469869 FAM76B Synonymous SNV Y7Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.05 220316 chr2 233404728 233404728 C T rs140623763 CHRNG Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 220317 chr16 1250529 1250529 C G rs1044602233 CACNA1H Nonsynonymous SNV I359M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 220318 chr19 1819050 1819050 G A rs780891828 REXO1 Nonsynonymous SNV R911C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 220319 chr8 145584015 145584015 C T rs764545993 SLC52A2 Nonsynonymous SNV A288V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 23.9 220320 chr1 197071042 197071042 C T rs371382735 ASPM Nonsynonymous SNV A2447T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 220321 chr19 18879375 18879375 G A CRTC1 Synonymous SNV P364P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 220322 chr11 111741093 111741093 C T rs782467173 ALG9 Synonymous SNV E44E 0 0.003 0 0 0 1 0 0 0 0 0 0 18.01 220323 chr11 112131202 112131202 A C PLET1 Nonsynonymous SNV F37L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.746 220324 chr16 1838149 1838149 G A NUBP2 Nonsynonymous SNV S204N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.487 220325 chr16 1841472 1841472 A G rs1029727806 IGFALS Nonsynonymous SNV L354P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 220326 chr2 241069437 241069437 C G rs115716357 COPS9 Nonsynonymous SNV G91A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.8 220327 chr8 22447123 22447123 G C rs561281081 PDLIM2 Nonsynonymous SNV G211A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.397 220328 chr19 33248034 33248034 A T rs1036978695 TDRD12 Nonsynonymous SNV Q288L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.005 220329 chr16 2086333 2086333 T C SLC9A3R2 Synonymous SNV S30S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.031 220330 chr2 242572633 242572633 C T rs774130230 THAP4 Synonymous SNV T313T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.369 220331 chr16 2283475 2283475 G C rs35508264 E4F1 Nonsynonymous SNV G365R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.046 220332 chr11 118978470 118978470 C A C2CD2L Nonsynonymous SNV Q7K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.244 220333 chr8 30702440 30702440 A G TEX15 Nonsynonymous SNV F1748S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.202 220334 chr14 104516005 104516005 C T rs758287208 TDRD9 Synonymous SNV Y1345Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.213 220335 chr14 104558980 104558980 C T rs374729572 ASPG Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 220336 chr14 105175634 105175634 G A rs189559257 INF2 Nonsynonymous SNV A656T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.67 220337 chr2 28865883 28865883 C T rs139444932 PLB1 Nonsynonymous SNV R1434W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 220338 chr8 41573211 41573211 C G rs1028088529 ANK1 Nonsynonymous SNV A521P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 220339 chr2 196741308 196741308 C T rs377539757 DNAH7 Nonsynonymous SNV R2026K 0.002 0 0 0 2 0 0 0 0 0 0 0 31 220340 chr15 23003019 23003019 C T rs138510002 CYFIP1 Synonymous SNV H816H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.78 220341 chr11 57558974 57558974 G A CTNND1 Synonymous SNV S8S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 220342 chr15 28117011 28117011 T C OCA2 Nonsynonymous SNV K689E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.5 220343 chr19 38056420 38056420 C A rs768611594 ZNF571 Stop gain E304X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 220344 chr16 3339427 3339427 G A rs141172056 ZNF263 Synonymous SNV P307P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.055 220345 chr8 63936699 63936699 C T rs753850058 GGH Synonymous SNV L182L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.092 220346 chr19 38384493 38384493 - AGAGGCAGACATCAAAGGATGTGATGGCACACAGGTGC WDR87 Frameshift insertion S617Cfs*15 0 0 0 1 0 0 0.003 0 0 0 0 0 220347 chr19 38778566 38778566 G A SPINT2 Nonsynonymous SNV V53I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.9 220348 chr16 3639252 3639252 C T rs779970904 SLX4 Nonsynonymous SNV D1463N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.53 220349 chr19 38876120 38876120 G T GGN Stop gain C594X 0 0 0 1 0 0 0.003 0 0 0 0 0 41 220350 chr19 3771585 3771585 C T rs141804618 RAX2 Synonymous SNV P98P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.6 220351 chr11 60668348 60668348 G A rs759269639 PRPF19 Synonymous SNV S232S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 220352 chr11 60703431 60703431 C T rs146436980 TMEM132A Synonymous SNV A709A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 220353 chr15 39874881 39874881 C A rs45533643 THBS1 Nonsynonymous SNV S185R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 220354 chr11 129321096 129321096 C T BARX2 Synonymous SNV P213P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 220355 chr15 40661577 40661577 G A DISP2 Synonymous SNV L1088L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.843 220356 chr11 61551765 61551765 G A rs562609660 MYRF Nonsynonymous SNV V1030M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 220357 chr16 3820640 3820640 C T rs146168040 CREBBP Synonymous SNV P899P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.73 220358 chr15 40699906 40699906 A G IVD Nonsynonymous SNV N56D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.766 220359 chr16 4475901 4475901 A G rs369435184 DNAJA3 Nonsynonymous SNV T7A 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.083 220360 chr2 48809255 48809255 G A rs137899415 STON1, STON1-GTF2A1L Nonsynonymous SNV E495K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 29 220361 chr19 40095877 40095877 C T rs369816502 LGALS13 Nonsynonymous SNV A51V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 220362 chr11 62433898 62433898 G A rs72927292 CSKMT Nonsynonymous SNV R33H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.9 220363 chr15 42170633 42170633 C T rs374900480 SPTBN5 Nonsynonymous SNV R1126H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 220364 chr8 98943201 98943201 C T rs199853259 MATN2 Nonsynonymous SNV R55W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 220365 chr19 42342173 42342173 A G rs35789931 LYPD4 Nonsynonymous SNV V90A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 220366 chr19 42585173 42585173 C T rs375407850 ZNF574 Synonymous SNV I895I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.779 220367 chr15 44855454 44855454 C T rs61732733 SPG11 Synonymous SNV K2286K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 220368 chr19 42814146 42814146 G A rs200698601 PRR19 Nonsynonymous SNV S137N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.477 220369 chr12 7045891 7045891 - CAGCAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQQ 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 220370 chr15 48451842 48451842 C T rs75354624 MYEF2 Nonsynonymous SNV G229S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 220371 chr16 57449006 57449006 T C rs61737346 CCL17 Synonymous SNV N28N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.023 220372 chr2 219735876 219735876 C G rs142171369 WNT6 Nonsynonymous SNV R70G 0.004 0 0 1 5 0 0.003 0 0 0 0 0 24.7 220373 chr2 73676746 73676746 C G rs199922877 ALMS1 Nonsynonymous SNV T1030S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.15 220374 chr19 44610825 44610825 C T rs767394305 ZNF224 Nonsynonymous SNV S171L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 220375 chr9 114356501 114356501 C A rs537674676 PTGR1 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 220376 chr11 66458785 66458785 G A rs754478833 SPTBN2 Synonymous SNV Y1845Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.692 220377 chr2 86993028 86993028 T C RMND5A Synonymous SNV I245I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.797 220378 chr9 116856530 116856530 C T rs561028103 KIF12 Nonsynonymous SNV R277Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 220379 chr19 46057168 46057168 C T OPA3 Synonymous SNV L48L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.41 220380 chr2 96993436 96993436 A G ITPRIPL1 Nonsynonymous SNV Y364C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.3 220381 chr2 97427023 97427023 T G CNNM4 Nonsynonymous SNV V96G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.05 220382 chr9 120466772 120466772 G A rs200829864 TLR4 Nonsynonymous SNV A8T 0 0 0.003 0 0 0 0 1 0 0 0 0 27 220383 chr19 48204807 48204807 C G BICRA Nonsynonymous SNV S1273C 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 220384 chr1 242161863 242161863 G A MAP1LC3C Synonymous SNV F58F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 220385 chr16 726256 726256 C T rs367618276 RHBDL1 Nonsynonymous SNV A52V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 220386 chr15 69706791 69706791 T A rs779104981 LOC145694 0.001 0 0 0 1 0 0 0 0 0 0 0 9.292 220387 chr11 75907630 75907630 G A rs116833165 WNT11 Synonymous SNV A72A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.788 220388 chr19 49141328 49141328 C T SEC1P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.973 220389 chr15 77471787 77471787 C T rs769083491 PEAK1 Nonsynonymous SNV E828K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 220390 chr19 49814481 49814481 C G rs746119231 SLC6A16 Nonsynonymous SNV A42P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 220391 chr15 78805605 78805605 C A rs772871155 HYKK Nonsynonymous SNV P59T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 220392 chr9 130854228 130854228 C T rs748573997 SLC25A25 Nonsynonymous SNV R27C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 220393 chr12 32138043 32138043 T C rs151067559 RESF1 Nonsynonymous SNV M1385T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 220394 chr16 84227823 84227823 G T rs72800737 ADAD2 Nonsynonymous SNV E210D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 3.346 220395 chr9 131821511 131821511 G A MIGA2 Nonsynonymous SNV G252S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 220396 chr9 132084358 132084358 A G C9orf106 0 0 0.003 0 0 0 0 1 0 0 0 0 3.608 220397 chr12 48135335 48135335 G A rs778007965 RAPGEF3 Nonsynonymous SNV L584F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 220398 chr16 855578 855578 C T rs375434953 PRR25 Nonsynonymous SNV R46C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.014 220399 chr11 100999655 100999655 C A rs113055487 PGR Synonymous SNV S49S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 220400 chr16 88495568 88495568 G A rs768576385 ZNF469 Nonsynonymous SNV G564R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.81 220401 chr12 49422893 49422893 G A rs200979074 KMT2D Synonymous SNV D4734D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.15 220402 chr9 137620521 137620521 G T rs757360763 COL5A1 Synonymous SNV T264T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.28 220403 chr1 27180246 27180246 C T rs151336811 ZDHHC18 Nonsynonymous SNV S360F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 220404 chr12 50745296 50745296 G A rs937113757 FAM186A Synonymous SNV A1773A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.224 220405 chr1 27223792 27223792 C T rs148453803 GPATCH3 Synonymous SNV E292E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 220406 chr9 138714802 138714802 G A rs138200991 CAMSAP1 Nonsynonymous SNV L569F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 220407 chr9 138714803 138714803 G A rs149594688 CAMSAP1 Synonymous SNV G568G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.453 220408 chr16 89258740 89258740 C T rs895124764 CDH15 Synonymous SNV R581R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.78 220409 chr12 52600367 52600367 T C C12orf80 0 0.003 0 0 0 1 0 0 0 0 0 0 10.31 220410 chr16 89838118 89838118 T C FANCA Nonsynonymous SNV N707D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 220411 chr16 89965233 89965233 C T rs745417853 TCF25 Nonsynonymous SNV R392W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 220412 chr12 52799788 52799788 T C rs61730591 KRT82 Nonsynonymous SNV I92V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 220413 chr12 52941699 52941699 G A rs141534890 KRT71 Nonsynonymous SNV S349L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 220414 chr15 99467876 99467876 G A rs757589571 IGF1R Synonymous SNV S915S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.59 220415 chr11 117988101 117988101 G T rs190228222 TMPRSS4 Nonsynonymous SNV G372C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 220416 chr1 36558040 36558040 G A rs148612837 ADPRHL2 Nonsynonymous SNV R240H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.84 220417 chr1 36786277 36786277 G C rs144425061 SH3D21 Synonymous SNV A560A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.668 220418 chr19 54659562 54659562 G A rs375647598 LENG1 Nonsynonymous SNV P231L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.038 220419 chr11 121028561 121028561 A C rs146742726 TECTA Synonymous SNV L1439L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.385 220420 chr1 39877829 39877829 T C rs113364091 KIAA0754 Nonsynonymous SNV L631S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 220421 chr9 215329 215329 G A rs77005692 DOCK8-AS1 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.1 220422 chr11 124413098 124413098 C T OR8B12 Synonymous SNV G151G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 220423 chr11 124744786 124744786 C G rs775036629 ROBO3 Nonsynonymous SNV T685S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 220424 chr17 18075005 18075005 C T rs546575046 MYO15A Nonsynonymous SNV S3379L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 220425 chr9 35556056 35556056 C T rs776792847 RUSC2 Nonsynonymous SNV R44W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 220426 chr3 149459466 149459466 C T rs148182261 COMMD2 Nonsynonymous SNV V148M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.7 220427 chr9 36671145 36671145 C T rs115242044 MELK Synonymous SNV D421D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.372 220428 chr3 151161581 151161581 G A rs759777108 IGSF10 Synonymous SNV R1718R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 220429 chr12 57926421 57926421 G A rs775130542 DCTN2 Synonymous SNV V288V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.575 220430 chr19 56421928 56421928 C T rs768101904 NLRP13 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.72 220431 chr11 130059705 130059705 G A rs148221080 ST14 Nonsynonymous SNV R171H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 20.8 220432 chr9 396836 396836 C T rs16937932 DOCK8 Nonsynonymous SNV R908W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 220433 chr3 155637039 155637039 T G rs754587051 GMPS Synonymous SNV P410P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.029 220434 chr9 414816 414816 A G rs77399114 DOCK8 Nonsynonymous SNV I1089V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 8.808 220435 chr9 5922480 5922480 T C rs375760234 KIAA2026 Synonymous SNV T1172T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 220436 chr16 3079348 3079348 C A rs545723438 BICDL2 Nonsynonymous SNV R347L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 220437 chr16 3079364 3079364 C A rs754344293 BICDL2 Stop gain E342X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 220438 chr16 3349177 3349177 C G rs750024592 TIGD7 Nonsynonymous SNV V480L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 220439 chr12 72666707 72666707 C G rs994613670 TRHDE Nonsynonymous SNV A50G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 220440 chr12 2757661 2757661 C T rs199569953 CACNA1C Synonymous SNV C1311C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.53 220441 chr12 2851889 2851889 C G ITFG2-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 3.856 220442 chr2 74742180 74742180 G A TLX2 Nonsynonymous SNV V83I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 220443 chr12 78570994 78570994 A T NAV3 Nonsynonymous SNV E1733V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 220444 chr3 183035953 183035953 G A rs758933965 MCF2L2 Nonsynonymous SNV T219M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.61 220445 chr19 58187876 58187876 C G rs765783442 ZSCAN4 Nonsynonymous SNV D121E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.665 220446 chr19 56189986 56189986 C T rs745750069 EPN1 Nonsynonymous SNV P109L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 220447 chr1 55451915 55451915 C T rs138273726 TMEM61 Nonsynonymous SNV T54M 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 20.5 220448 chr9 86421293 86421293 C G rs144743604 GKAP1 Nonsynonymous SNV S47T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 220449 chr9 86617349 86617349 C T rs149512376 RMI1 Nonsynonymous SNV A483V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.914 220450 chr12 6664568 6664568 C G IFFO1 Nonsynonymous SNV E210Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 220451 chr12 95927737 95927737 C T rs778973722 USP44 Nonsynonymous SNV R99Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 220452 chr12 96131662 96131662 G A rs529684376 NTN4 Synonymous SNV A282A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 220453 chr12 7053319 7053319 G T rs148483779 C12orf57 Nonsynonymous SNV S12I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 220454 chr1 59922692 59922692 G A rs376744089 FGGY Nonsynonymous SNV S117N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 220455 chr1 60381647 60381647 G A rs138732194 CYP2J2 Synonymous SNV P112P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 7.065 220456 chr3 186338550 186338550 C T rs548302489 AHSG Nonsynonymous SNV A284V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 220457 chrUn_gl000220 122116 122116 - CC LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 220458 chr16 13329186 13329186 C T SHISA9 Nonsynonymous SNV P399S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 220459 chrX 100746449 100746449 G C rs782803676 ARMCX4 Nonsynonymous SNV G958A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.305 220460 chr12 104487252 104487252 C T rs574023442 HCFC2 Nonsynonymous SNV T458M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.973 220461 chr1 70504897 70504897 T A rs752501670 LRRC7 Synonymous SNV S1131S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 220462 chr1 74671275 74671275 G T rs200809071 FPGT Nonsynonymous SNV G528V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 220463 chrX 133379807 133379807 A T rs780846007 CCDC160 X326L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.993 220464 chrX 135427285 135427285 A C rs145542316 ADGRG4 Nonsynonymous SNV I474L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.68 220465 chr1 77635013 77635013 A C PIGK Nonsynonymous SNV F103V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 220466 chr12 11420408 11420526 CTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGT - PRB3 P220Sfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 220467 chr12 117423069 117423069 C T rs138454816 FBXW8 Synonymous SNV H232H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 220468 chr17 38240979 38240979 G A THRA Nonsynonymous SNV E163K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 220469 chr12 118520215 118520215 C T rs73410784 VSIG10 Synonymous SNV E127E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.65 220470 chr12 120156119 120156119 G A CIT Nonsynonymous SNV H1325Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23 220471 chr17 38792185 38792185 T C SMARCE1 Nonsynonymous SNV D180G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 220472 chr12 120512342 120512342 G T BICDL1 Nonsynonymous SNV R468S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 220473 chr12 121204168 121204168 G A rs142424551 SPPL3 Synonymous SNV L327L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 220474 chr1 85647836 85647836 A G rs559595503 SYDE2 Nonsynonymous SNV M830T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.743 220475 chr17 39216031 39216031 G A KRTAP2-3 Nonsynonymous SNV P91L 0 0 0 1 0 0 0.003 0 0 0 0 0 29 220476 chr20 17639703 17639703 C T rs202039941 RRBP1 Nonsynonymous SNV G484R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.605 220477 chrX 17744556 17744556 T C rs143081492 NHS Nonsynonymous SNV F579S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.7 220478 chrX 24228389 24228389 T C rs2228659 ZFX Synonymous SNV G209G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 220479 chr12 124366269 124366269 G T rs148844278 DNAH10 Nonsynonymous SNV R2793L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 220480 chr12 124418059 124418063 GTACC - DNAH10 0 0.003 0 0 0 1 0 0 0 0 0 0 220481 chr16 56509984 56509984 C A OGFOD1 Nonsynonymous SNV S461Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 220482 chr12 33049492 33049492 C A rs146708884 PKP2 Nonsynonymous SNV E58D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 23.9 220483 chr12 124887059 124887067 GCTGCTGCT - rs559681337 NCOR2 Q507_Q509del 0 0.003 0 0 0 1 0 0 0 0 0 0 220484 chr12 124887067 124887067 - GCTGCTGCTGCT NCOR2 Q509_P510insQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 220485 chr1 9171336 9171336 G A rs144609953 GPR157 Nonsynonymous SNV A199V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 220486 chr12 46319945 46319947 TCT - rs755602543 SCAF11 E1182del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 220487 chrX 43626815 43626815 G A rs6324 MAOB Synonymous SNV P487P 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 9.086 220488 chr12 132624262 132624262 C T rs200781935 DDX51 Nonsynonymous SNV R631Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.08 220489 chr12 132625415 132625415 G A rs770047914 DDX51 Synonymous SNV D467D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.715 220490 chr17 41226488 41226488 C A rs1800744 BRCA1 Nonsynonymous SNV S1465I 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 22.3 220491 chr16 67876797 67876835 CAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAGCAG - rs959581023 THAP11 Q120_Q132del 0.001 0 0 0 1 0 0 0 0 0 0 0 220492 chr16 68283339 68283339 G C PLA2G15 Nonsynonymous SNV D92H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 220493 chrX 53581790 53581790 T C rs202214456 HUWE1 Synonymous SNV Q2766Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.024 220494 chr20 33582134 33582134 G A rs763806600 MYH7B Nonsynonymous SNV R919H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 220495 chr12 49919826 49919826 - A rs544160874 SPATS2 Stop gain Y476* 0.001 0 0 0 1 0 0 0 0 0 0 0 220496 chr12 50189475 50189475 C G rs190797546 NCKAP5L Nonsynonymous SNV G723A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 220497 chrX 70149646 70149646 T C rs376521997 SLC7A3 Nonsynonymous SNV I68V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 220498 chrX 70887783 70887783 G - LOC101059915 Q46Sfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 220499 chrX 71521705 71521705 C T rs372014671 CITED1 Synonymous SNV S150S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 220500 chrX 71864311 71864311 T C rs370665123 PHKA1 Nonsynonymous SNV I454V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 220501 chrX 72433774 72433774 C T rs368981569 NAP1L2 Nonsynonymous SNV M185I 0.003 0.003 0.003 0 3 1 0 1 1 0 0 0 8.681 220502 chr16 71885616 71885616 T C rs972316082 ATXN1L Nonsynonymous SNV M658T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 220503 chr20 39981247 39981247 G T LPIN3 Nonsynonymous SNV E456D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 220504 chrX 77913148 77913148 T C rs370695464 RTL3 Nonsynonymous SNV Q257R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 220505 chr20 42965999 42965999 G A rs36117710 R3HDML Nonsynonymous SNV D68N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.27 220506 chrX 84559365 84559365 A T rs772549724 POF1B Nonsynonymous SNV I517K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 220507 chr20 43056986 43056986 G A HNF4A Nonsynonymous SNV D381N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 220508 chrX 96139937 96139937 C T rs866290728 RPA4 Nonsynonymous SNV H210Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 220509 chr13 29287326 29287326 C A rs149316432 SLC46A3 Nonsynonymous SNV G184V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.7 220510 chr10 100013422 100013422 G A rs202231313 LOXL4 Nonsynonymous SNV P575S 0 0 0.003 0 0 0 0 1 0 0 0 0 22 220511 chr17 4638625 4638625 C T rs151239052 CXCL16 Synonymous SNV S179S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.79 220512 chr3 50256121 50256121 C T rs760149741 SLC38A3 Nonsynonymous SNV T378M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 220513 chr20 18433334 18433334 G C rs6111970 DZANK1 Nonsynonymous SNV H184Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.275 220514 chr20 18534947 18534947 G T rs7262532 SEC23B Synonymous SNV L687L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.02 220515 chr10 104489559 104489559 G A rs143559053 SFXN2 Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 220516 chr17 47121399 47121399 A G IGF2BP1 Nonsynonymous SNV K285R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 220517 chr13 37016786 37016788 TTC - rs773213910 CCNA1 L463del 0 0.003 0 0 0 1 0 0 0 0 0 0 220518 chr20 47734382 47734382 C T rs146630196 STAU1 Nonsynonymous SNV V406I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.1 220519 chr17 4848275 4848275 A C rs778144795 RNF167 Synonymous SNV P304P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 220520 chr20 50406982 50406982 G A rs778476720 SALL4 Synonymous SNV G680G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.236 220521 chr20 23350303 23350303 A G GZF1 Synonymous SNV T570T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.835 220522 chr17 5371897 5371897 G A DHX33 Nonsynonymous SNV L95F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 220523 chr20 25657690 25657690 C A ZNF337-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.822 220524 chr12 56822738 56822738 A G rs371214224 TIMELESS Synonymous SNV I410I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 220525 chr17 56232612 56232612 T C rs747257271 OR4D1 Nonsynonymous SNV L33S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 6.093 220526 chr12 57397627 57397627 T G rs141597750 ZBTB39 Nonsynonymous SNV I359L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 220527 chr20 30231257 30231257 A G COX4I2 Nonsynonymous SNV N100D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 220528 chr20 57769589 57769589 A G ZNF831 Nonsynonymous SNV N1172S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 220529 chr20 31466588 31466588 T G rs1047794042 EFCAB8 Nonsynonymous SNV Y136D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.253 220530 chr20 57897438 57897438 C T rs368327225 EDN3 Nonsynonymous SNV T185M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 220531 chr17 59445762 59445762 T A BCAS3 Nonsynonymous SNV S834T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.17 220532 chr3 8590472 8590472 G A rs113889700 LMCD1 Synonymous SNV P129P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.286 220533 chr20 34583046 34583046 T G CNBD2 Nonsynonymous SNV D314E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 220534 chr13 98645197 98645197 G A rs751094057 IPO5 Nonsynonymous SNV V241I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.41 220535 chr10 127434168 127434168 C - rs569916391 EDRF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 220536 chr10 127484721 127484721 A C rs17173752 UROS Nonsynonymous SNV V144G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 0.793 220537 chr12 75824677 75824677 A C GLIPR1L2 Nonsynonymous SNV L257F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.164 220538 chr20 40827998 40827998 C G rs200127403 PTPRT Nonsynonymous SNV Q791H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 220539 chr13 107220237 107220237 G C ARGLU1 Nonsynonymous SNV R11G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 220540 chr1 120512258 120512258 G A rs187598092 NOTCH2 Synonymous SNV N328N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.944 220541 chr4 107229967 107229967 G C rs113924864 TBCK Nonsynonymous SNV P51A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 220542 chr21 27840924 27840924 C G rs140249086 CYYR1 Nonsynonymous SNV E122Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 220543 chr13 114057734 114057734 T C rs943395448 LOC101928841 Nonsynonymous SNV M1591V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.33 220544 chr12 96948455 96948455 G A rs190604793 CFAP54 Nonsynonymous SNV R762H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.855 220545 chr3 194080554 194080554 C T rs376713863 LRRC15 Nonsynonymous SNV G407S 0.008 0 0 0 9 0 0 0 0 0 0 0 25.7 220546 chr20 47262391 47262391 G A rs985684638 PREX1 Synonymous SNV Y1170Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 220547 chr20 48166702 48166702 G T PTGIS Nonsynonymous SNV D33E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 220548 chr4 119204072 119204072 T C rs893295563 PRSS12 Nonsynonymous SNV H745R 0.004 0 0 0 5 0 0 0 0 0 0 0 23.8 220549 chr10 17156030 17156030 T C rs142466038 CUBN Synonymous SNV P293P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 220550 chr21 34442760 34442760 C G rs553283318 OLIG1 Nonsynonymous SNV R70G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 220551 chr4 123264601 123264601 G T rs913668009 KIAA1109 Nonsynonymous SNV R4130L 0.002 0 0 0 2 0 0 0 0 0 0 0 35 220552 chr17 3779604 3779604 G A CAMKK1 Synonymous SNV N303N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.22 220553 chr4 126237611 126237611 G A rs1009458431 FAT4 Synonymous SNV P15P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.94 220554 chr12 109847870 109847870 A G rs1031095079 MYO1H Nonsynonymous SNV I426M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 220555 chr12 110029153 110029153 C T rs370301290 MVK Synonymous SNV L240L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.23 220556 chr10 27497334 27497334 C T ACBD5 Synonymous SNV R238R 0 0 0.003 0 0 0 0 1 0 0 0 0 17 220557 chr20 5974279 5974279 A G MCM8 Nonsynonymous SNV T743A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 220558 chr17 4875812 4875812 C T rs367680855 CAMTA2 Synonymous SNV S843S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 220559 chr12 113543605 113543605 C T rs775386741 RASAL1 Nonsynonymous SNV G581S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 220560 chr17 73843596 73843596 G A rs764339091 WBP2 Synonymous SNV S164S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.02 220561 chr12 117662919 117662919 C T rs765858548 NOS1 Nonsynonymous SNV R907Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 220562 chr4 149356324 149356324 G A rs5528 NR3C2 Synonymous SNV H563H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 3.106 220563 chr21 43533693 43533693 C T rs150529475 UMODL1 Synonymous SNV S761S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.366 220564 chr17 74068495 74068512 ACCGCCGCCGCCACTGCC - rs755013769 SRP68 G21_G26del 0 0 0 1 0 0 0.003 0 0 0 0 0 220565 chr21 43979190 43979190 G A rs140420864 SLC37A1 Synonymous SNV L324L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.946 220566 chr10 45472867 45472867 C G rs374040532 DEPP1 Synonymous SNV S204S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.375 220567 chr12 121622169 121622169 C T rs201059543 P2RX7 Nonsynonymous SNV P451L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 220568 chr20 62192450 62192450 G A rs368872306 HELZ2 Synonymous SNV F1808F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.187 220569 chr17 74901372 74901372 G A rs200952928 MGAT5B Nonsynonymous SNV R282H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.26 220570 chr17 8045714 8045714 C A rs112743620 PER1 Nonsynonymous SNV A1108S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 220571 chr17 8048377 8048377 C A rs191969970 MIR6883 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.98 220572 chr12 124401080 124401080 G A rs199819171 DNAH10 Nonsynonymous SNV R3482H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.08 220573 chr17 76183496 76183498 GAA - rs746638950 AFMID K17del 0 0 0 1 0 0 0.003 0 0 0 0 0 220574 chr20 62492928 62492928 G A rs555569547 ABHD16B Nonsynonymous SNV R12H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 220575 chr17 8172548 8172548 A G rs748861273 PFAS Nonsynonymous SNV N1328S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 220576 chr21 47602541 47602541 C T rs549793422 SPATC1L Nonsynonymous SNV G64R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 21.7 220577 chr14 38061795 38061795 T C rs200438155 FOXA1 Nonsynonymous SNV N65S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 220578 chr21 47685317 47685317 G A rs17182850 MCM3AP Nonsynonymous SNV P1051L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.706 220579 chr10 5203913 5203913 G C AKR1C8P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 220580 chr21 47836466 47836466 C T rs144471022 PCNT Nonsynonymous SNV R2094W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 15.89 220581 chr21 17198557 17198557 C G rs777388141 USP25 Nonsynonymous SNV P447A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 220582 chr17 7684051 7684051 G A rs775562825 DNAH2 Nonsynonymous SNV R1985H 0 0 0 1 0 0 0.003 0 0 0 0 0 26 220583 chr21 47974114 47974114 G C rs763691238 DIP2A Nonsynonymous SNV Q1017H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 220584 chr1 158641902 158641902 G A rs768751664 SPTA1 Nonsynonymous SNV H479Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 220585 chr12 132271121 132271121 G A rs149992355 SFSWAP Nonsynonymous SNV R841Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 220586 chr17 11896067 11896067 T C rs773214642 ZNF18 Nonsynonymous SNV D27G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 220587 chr17 12887897 12887897 G T rs576435385 ARHGAP44 Synonymous SNV P457P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.19 220588 chr10 61819554 61819554 G A rs1036909947 ANK3 Nonsynonymous SNV A790V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 220589 chr12 133294127 133294127 A C rs374753399 PGAM5 Nonsynonymous SNV D158A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 220590 chr10 69407254 69407254 T A rs138580439 CTNNA3 Synonymous SNV P6P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 11.12 220591 chr17 78355428 78355428 T G rs778641544 RNF213 Nonsynonymous SNV L4627V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.35 220592 chr14 59834236 59834236 T C rs144773815 DAAM1 Synonymous SNV A972A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.027 220593 chr21 40568417 40568417 G T rs558991758 BRWD1 Nonsynonymous SNV T2193N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 220594 chr17 79862817 79862817 C T PCYT2 Synonymous SNV L300L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.35 220595 chr22 24451469 24451469 A G CABIN1 Nonsynonymous SNV M264V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 220596 chr10 73485178 73485178 G T rs111033519 CDH23 Nonsynonymous SNV M1160I 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.43 220597 chr17 80400334 80400334 C T rs763338872 HEXD Nonsynonymous SNV R542W 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 220598 chr13 32811864 32811864 G A rs141778850 FRY Synonymous SNV E2053E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.672 220599 chr13 33692352 33692352 G A rs755580938 STARD13 Nonsynonymous SNV R593C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 220600 chr14 66208955 66208955 G A rs746676367 FUT8 Nonsynonymous SNV D356N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.19 220601 chr10 79581098 79581098 C T rs74820799 DLG5 Synonymous SNV P1048P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.898 220602 chr22 29191560 29191560 G A XBP1 Nonsynonymous SNV P254S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.77 220603 chr17 28776688 28776688 G A rs779326001 CPD Synonymous SNV A750A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.15 220604 chr14 74086402 74086402 C T rs143483409 ACOT6 Synonymous SNV H161H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.198 220605 chr22 32112545 32112545 C T rs182114992 PRR14L Nonsynonymous SNV R427H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 220606 chr14 75508343 75508343 T A rs142124529 MLH3 Nonsynonymous SNV N1147I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 220607 chr22 32871355 32871355 C T rs759573587 FBXO7 Nonsynonymous SNV R3W 0 0 0 1 0 0 0.003 0 0 0 0 0 9.621 220608 chr14 76147895 76147895 T C rs772480677 TTLL5 Synonymous SNV Y63Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.623 220609 chr13 51826042 51826044 ACG - FAM124A D181del 0.001 0 0 0 1 0 0 0 0 0 0 0 220610 chr4 44688540 44688540 C T rs116062572 GUF1 Nonsynonymous SNV R250C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 220611 chr14 80130129 80130129 G C NRXN3 Synonymous SNV G146G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.757 220612 chr17 38856330 38856330 T C KRT24 Nonsynonymous SNV T355A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 220613 chr18 29039054 29039054 C T rs62095186 DSG3 Nonsynonymous SNV T144M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 220614 chr14 91755506 91755506 C T rs200081065 CCDC88C Nonsynonymous SNV A1462T 0 0.005 0 0 0 2 0 0 0 0 0 0 1.204 220615 chr14 92102900 92102900 A C CATSPERB Synonymous SNV T537T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.113 220616 chr13 103386373 103386373 T G CCDC168 Synonymous SNV S5558S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.131 220617 chr22 24134008 24134008 A G SMARCB1 Synonymous SNV R53R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.742 220618 chr14 100331956 100331956 A G rs199650308 EML1 Nonsynonymous SNV K119R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.39 220619 chr22 45723881 45723962 GGAGGCCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCG - FAM118A E154Sfs*9 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 220620 chr22 24581722 24581722 C T rs149352625 SUSD2 Synonymous SNV R388R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.49 220621 chr14 20404046 20404046 C G rs147067678 OR4K1 Nonsynonymous SNV S74C 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 22.3 220622 chr14 100616042 100616042 A G DEGS2 Nonsynonymous SNV Y30H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.75 220623 chr11 104868198 104868198 C T rs752690490 CASP5 Nonsynonymous SNV R231H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.697 220624 chr14 103406644 103406644 C T rs146870461 CDC42BPB Nonsynonymous SNV V1476I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 220625 chr14 103871547 103871547 C T rs758161308 MARK3 Synonymous SNV I62I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 220626 chr22 29706843 29706843 T G GAS2L1 Nonsynonymous SNV C289G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 220627 chr11 111383836 111383836 G A rs751828759 LOC728196 0 0 0.003 0 0 0 0 1 0 0 0 0 9.285 220628 chr22 50470215 50470215 G A rs61739921 TTLL8 Nonsynonymous SNV P552L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 220629 chr22 30691808 30691808 G C rs530246728 TBC1D10A Nonsynonymous SNV P155A 0.002 0 0 0 2 0 0 0 0 0 0 0 23 220630 chr11 116701353 116701353 C T rs76353203 APOC3 Stop gain R19X 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Pathogenic 32 220631 chr4 8230071 8230071 G A rs977654713 SH3TC1 Nonsynonymous SNV E808K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 220632 chr11 120998952 120998952 A G rs141420954 TECTA Nonsynonymous SNV K756E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 220633 chr11 121000486 121000486 G A rs142869679 TECTA Nonsynonymous SNV R836Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 220634 chr11 121384931 121384931 A C rs150609294 SORL1 Nonsynonymous SNV N371T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.1 220635 chrX 40495932 40495932 G A rs545051253 CXorf38 Synonymous SNV P99P 0 0 0 2 0 0 0.005 0 0 0 0 1 10.49 220636 chr4 952239 952239 G A rs374149878 TMEM175 Synonymous SNV T408T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.161 220637 chr5 1038377 1038377 G A rs113321181 NKD2 Synonymous SNV P415P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.645 220638 chr5 110819980 110819980 C T rs147516085 CAMK4 Nonsynonymous SNV A216V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.251 220639 chr14 45565410 45565410 C G PRPF39 Nonsynonymous SNV D143E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 220640 chr5 112175342 112175342 G A APC Nonsynonymous SNV A1333T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.4 220641 chr17 61601722 61601722 G A rs139224198 KCNH6 Nonsynonymous SNV R100H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 220642 chr19 1051219 1051219 G A ABCA7 Nonsynonymous SNV G917D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.783 220643 chr19 1051220 1051220 C A ABCA7 Synonymous SNV G917G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.836 220644 chr14 51224101 51224101 C T rs192017781 NIN Nonsynonymous SNV R1216Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 220645 chr14 52481046 52481046 T C rs765487983 NID2 Nonsynonymous SNV R1127G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 220646 chr1 228480467 228480467 C T rs779979102 OBSCN Nonsynonymous SNV S3616L 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 19.09 220647 chrX 138869368 138869368 T C rs17281983 ATP11C Nonsynonymous SNV Y522C 0 0 0 2 0 0 0.005 0 0 0 0 1 7.753 220648 chr14 58030868 58030868 A G rs777795055 SLC35F4 Synonymous SNV S480S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.273 220649 chr22 50699837 50699837 - C rs532163968 MAPK12 Frameshift insertion S35Lfs*18 0.001 0 0 1 1 0 0.003 0 0 0 0 0 220650 chr11 19192025 19192025 G A ZDHHC13 Synonymous SNV V384V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 220651 chr17 71281628 71281628 G C rs556457164 CDC42EP4 Nonsynonymous SNV Q338E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.086 220652 chr17 71382649 71382649 G A rs766705397 SDK2 Nonsynonymous SNV A1478V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 220653 chrX 149937528 149937528 C T rs7877654 CD99L2 Synonymous SNV P183P 0.003 0.005 0 2 3 2 0.005 0 1 1 0 1 12.76 220654 chr14 62547957 62547957 G T rs775442223 SYT16 Nonsynonymous SNV V286L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 220655 chr15 65425651 65425651 C T rs186847323 PDCD7 Nonsynonymous SNV A157T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.923 220656 chr2 105654555 105654555 C T rs149402894 MRPS9 Nonsynonymous SNV A2V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 220657 chr15 65685745 65685745 G T IGDCC4 Synonymous SNV S613S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.744 220658 chr15 68492008 68492008 A G rs201240229 CALML4 Nonsynonymous SNV C59R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.2 220659 chr2 11053830 11053830 G A rs61741190 KCNF1 Synonymous SNV E426E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.214 220660 chr14 72196975 72196975 G A rs764456614 SIPA1L1 Synonymous SNV P1606P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.61 220661 chr14 74825014 74825014 C T rs139474205 VRTN Nonsynonymous SNV R510C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 220662 chr14 75387980 75387980 C T rs777332209 RPS6KL1 Nonsynonymous SNV V89I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 220663 chr5 1463796 1463796 C T rs145751040 LPCAT1 Synonymous SNV G525G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.13 220664 chr5 146798038 146798038 C T rs201521252 DPYSL3 Synonymous SNV A209A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.01 220665 chr5 147818056 147818056 C A rs112383068 FBXO38 Nonsynonymous SNV Q762K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.2 220666 chr11 4411470 4411470 C T rs201475245 TRIM21 Nonsynonymous SNV R57H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 220667 chr11 44265813 44265813 C T rs752842279 EXT2 Synonymous SNV S744S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 220668 chr1 247614509 247614509 G A rs769171531 OR2B11 Nonsynonymous SNV A259V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 220669 chr17 77082215 77082216 CT - rs781161422 ENGASE P674Gfs*74 0.004 0 0 0 5 0 0 0 0 0 0 0 220670 chr14 91770279 91770279 G C CCDC88C Nonsynonymous SNV A1134G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 220671 chr15 83434702 83434702 G C FSD2 Synonymous SNV L500L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.658 220672 chr4 68610380 68610380 G A rs144451862 GNRHR Synonymous SNV F216F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.99 220673 chr19 21605991 21605991 C A ZNF493 Nonsynonymous SNV T49N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.3 220674 chr14 96178576 96178576 C T rs142206584 TCL1A Nonsynonymous SNV R93H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 220675 chr15 86265337 86265337 C T rs767184968 AKAP13 Nonsynonymous SNV A744V 0 0.003 0 0 0 1 0 0 0 0 0 0 24 220676 chr14 97299814 97299814 T - rs780789145 VRK1 R3Vfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 220677 chr2 153530169 153530169 G A rs369719236 PRPF40A Synonymous SNV Y385Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.512 220678 chr10 127436128 127436128 G A rs112296534 EDRF1 Synonymous SNV A912A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.546 220679 chr14 102551178 102551178 T C HSP90AA1 Nonsynonymous SNV K274R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 220680 chr14 102698916 102698916 G A rs141566192 MOK Synonymous SNV I40I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.33 220681 chr19 30934699 30934699 T C rs745421534 ZNF536 Nonsynonymous SNV M77T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.446 220682 chr5 176002839 176002839 C T rs757735578 CDHR2 Nonsynonymous SNV T320M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 220683 chr14 104645612 104645612 C T KIF26A Nonsynonymous SNV R1786C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 220684 chr15 91488132 91488132 G T rs55975240 UNC45A Nonsynonymous SNV K201N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 220685 chr5 177548183 177548189 GAGCGCA - N4BP3 E313Afs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 220686 chr11 55433359 55433365 CTCCCAC - OR4C6 H241Rfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 220687 chr5 179228577 179228577 C T rs763883978 MGAT4B Nonsynonymous SNV R149H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 220688 chr19 36278407 36278407 G A rs769758647 ARHGAP33 Synonymous SNV L844L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.259 220689 chr11 55944765 55944765 T C rs781507139 OR5J2 Synonymous SNV A224A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.29 220690 chr18 25573508 25573508 C T CDH2 Nonsynonymous SNV V341M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 31 220691 chr18 28710571 28710571 C T rs201224167 DSC1 Nonsynonymous SNV C864Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.9 220692 chr1 36807506 36807506 G A rs373009034 STK40 Synonymous SNV A391A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.76 220693 chr15 40034052 40034052 T C rs566483547 FSIP1 Synonymous SNV Q203Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 220694 chr19 38993172 38993172 C T rs751482960 RYR1 Nonsynonymous SNV A2547V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.7 220695 chr15 42108788 42108788 C T rs79573365 MAPKBP1 Synonymous SNV L509L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.46 220696 chr15 42127041 42127041 C T rs148993513 JMJD7, JMJD7-PLA2G4B Synonymous SNV N56N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.15 220697 chr15 42139863 42139863 C T rs79798433 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV P886L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.817 220698 chr15 42147847 42147847 G A rs372618835 SPTBN5 Nonsynonymous SNV R3040W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 220699 chr19 40196587 40196587 G A rs780745146 LGALS14 Nonsynonymous SNV G14S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.62 220700 chr2 186625799 186625799 C T rs931825188 FSIP2 Nonsynonymous SNV A388V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.115 220701 chr19 40741857 40741857 G A rs139506765 AKT2 Nonsynonymous SNV T329M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 220702 chr16 1538821 1538821 T C rs552968847 PTX4 Synonymous SNV P30P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.911 220703 chr18 55217962 55217962 G A FECH Synonymous SNV F385F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.29 220704 chr15 42982602 42982602 G A rs552485294 STARD9 Synonymous SNV P2942P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 2.289 220705 chr2 189929735 189929735 G T COL5A2 Nonsynonymous SNV P538T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 220706 chr15 42985711 42985711 T C rs546611281 STARD9 Synonymous SNV L3979L 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.095 220707 chr1 46661569 46661569 C T POMGNT1 Nonsynonymous SNV D128N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 220708 chr16 2025949 2025949 G A rs775665672 TBL3 Synonymous SNV T376T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.96 220709 chr16 2140535 2140535 C T rs142493958 PKD1 Synonymous SNV L4064L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.429 220710 chr16 2223240 2223240 C T rs570085095 TRAF7 Synonymous SNV F284F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 220711 chr16 2239057 2239057 T C CASKIN1 Synonymous SNV A196A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.535 220712 chr5 64867889 64867889 - C PPWD1 Frameshift insertion Y93Sfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 220713 chr19 440879 440879 C T rs757839557 SHC2 Synonymous SNV T174T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.622 220714 chr2 201355312 201355312 G A rs181273720 KCTD18 Synonymous SNV D264D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.861 220715 chr16 2983339 2983339 G A rs199955271 FLYWCH1 Nonsynonymous SNV M335I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.146 220716 chr15 45954219 45954219 C T rs190637341 SQOR Nonsynonymous SNV R101C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 220717 chr15 49127197 49127197 C T rs142459439 SHC4 Synonymous SNV P502P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.27 220718 chr2 203748436 203748436 C T rs200085067 WDR12 Synonymous SNV T201T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 220719 chr5 75913807 75913807 A G rs756444757 F2RL2 Nonsynonymous SNV I220T 0.003 0 0 0 4 0 0 0 0 0 0 0 25.8 220720 chr5 76028791 76028791 C T rs762806598 F2R Synonymous SNV P247P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 220721 chr15 58001403 58001403 C T rs139689651 GCOM1, POLR2M Nonsynonymous SNV A45V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.71 220722 chr11 62394398 62394398 A G GANAB Synonymous SNV Y663Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.924 220723 chr11 62482829 62482829 T G rs746364943 HNRNPUL2 Nonsynonymous SNV H729P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 220724 chr16 4935701 4935701 G A rs768419804 PPL Synonymous SNV T985T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.179 220725 chr15 64365159 64365159 C T rs750682279 CIAO2A Nonsynonymous SNV V152M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 220726 chr5 79281467 79281467 C T rs199600901 MTX3 Nonsynonymous SNV G191E 0.003 0 0 0 3 0 0 0 0 0 0 0 26 220727 chr16 11003017 11003017 A T CIITA Nonsynonymous SNV D346V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 220728 chr15 65983541 65983541 A C DENND4A Nonsynonymous SNV L1087V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 220729 chr15 66222160 66222160 G A rs149356572 MEGF11 Synonymous SNV N490N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.58 220730 chr16 15818798 15818798 T G rs200737737 MYH11 Nonsynonymous SNV I1304L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 220731 chr2 215884333 215884333 T C rs756278470 ABCA12 Nonsynonymous SNV N174S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 220732 chr11 64825877 64825877 G T rs199864491 NAALADL1 Nonsynonymous SNV D39E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 220733 chr1 78401682 78401682 G C NEXN Nonsynonymous SNV A412P 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 220734 chr11 65268653 65268653 T C rs372109226 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.597 220735 chr5 95234322 95234322 G A ELL2 Synonymous SNV L383L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.069 220736 chr2 219562670 219562670 T G STK36 Synonymous SNV L980L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.636 220737 chr11 65547635 65547635 - GCGCGCC AP5B1 Frameshift insertion L110Rfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 220738 chr11 66114263 66114263 C T B4GAT1 Nonsynonymous SNV G252S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.193 220739 chr11 66392708 66392708 C G RBM14 Nonsynonymous SNV T454S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 220740 chr6 10927526 10927526 C A SYCP2L Nonsynonymous SNV R456S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 220741 chr11 67191209 67191209 G A rs774827246 CARNS1 Nonsynonymous SNV A541T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 220742 chr15 79237232 79237232 C T rs1049637543 CTSH 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 220743 chr19 4231283 4231283 A G rs779039674 EBI3 Nonsynonymous SNV N55D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 220744 chr16 30735004 30735004 C T rs780953753 SRCAP Nonsynonymous SNV S1420F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 220745 chr15 83357193 83357193 T A AP3B2 Nonsynonymous SNV S140C 0.002 0 0 0 2 0 0 0 0 0 0 0 4.649 220746 chr16 31155129 31155129 C T rs768187440 PRSS36 Synonymous SNV E250E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 220747 chr16 31499046 31499046 C T SLC5A2 Nonsynonymous SNV T284I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 220748 chr6 116574349 116574349 T A TSPYL4 Nonsynonymous SNV M275L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 23.3 220749 chr16 50359703 50359703 G A rs774079213 BRD7 Synonymous SNV I429I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.39 220750 chr16 50707663 50707663 G A rs201531002 SNX20 Nonsynonymous SNV P202L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.29 220751 chr6 117865713 117865713 T C rs768188425 DCBLD1 Nonsynonymous SNV Y490H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 220752 chr15 89398771 89398771 T C rs759634656 ACAN Synonymous SNV T985T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 220753 chr16 57938771 57938771 C T rs761295014 CNGB1 Nonsynonymous SNV R828H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 220754 chr15 90176068 90176068 G A rs766652877 KIF7 Nonsynonymous SNV R960C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 220755 chr6 129513931 129513931 C T rs149811988 LAMA2 Nonsynonymous SNV A572V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.58 220756 chr16 67208310 67208310 G A rs780601409 NOL3 Nonsynonymous SNV A80T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 220757 chr16 68358663 68358663 C T rs199589649 PRMT7 Synonymous SNV D70D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.19 220758 chr15 91493473 91493473 G A rs16945050 UNC45A Synonymous SNV P576P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 5.079 220759 chr11 82644685 82644685 G T rs368341918 DDIAS Nonsynonymous SNV V769F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 220760 chr16 69959337 69959337 C T rs773149907 WWP2 Nonsynonymous SNV S279L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 220761 chr11 8662058 8662058 G C rs200613552 TRIM66 Nonsynonymous SNV Q477E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.76 220762 chr15 100269781 100269781 G A rs113077878 LYSMD4 Synonymous SNV T85T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.304 220763 chr15 101170129 101170129 A G rs73483052 ASB7 Synonymous SNV L233L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.238 220764 chr15 102201997 102201999 TCT - rs776691540 TARS3 K663del 0.001 0 0 0 1 0 0 0 0 0 0 0 220765 chr15 102359035 102359035 A G rs139722808 OR4F15 Nonsynonymous SNV I216V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.97 220766 chr16 420125 420125 G A MRPL28 Synonymous SNV L32L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.399 220767 chr16 677527 677527 G A rs145997805 RAB40C Nonsynonymous SNV G251S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.878 220768 chr11 9878049 9878049 C T rs201547070 SBF2 Synonymous SNV A773A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 17.54 220769 chr16 1576700 1576700 C A IFT140 Nonsynonymous SNV A833S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 220770 chr12 104149495 104149495 C T rs746405534 STAB2 Nonsynonymous SNV T2329M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 220771 chr12 104276409 104276409 A G rs182852180 TTC41P 0 0 0.01 0 0 0 0 3 0 0 0 0 2.92 220772 chr11 118372558 118372558 C T rs533826575 KMT2A Nonsynonymous SNV P2164L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 220773 chr12 106848332 106848332 A G rs139146614 POLR3B Synonymous SNV L654L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 4.904 220774 chr11 118851230 118851230 G A rs376701436 FOXR1 Synonymous SNV P214P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.15 220775 chr16 3107564 3107564 G A rs758025741 MMP25 Nonsynonymous SNV G319D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 220776 chr19 56515090 56515090 C T rs202104062 NLRP5 Nonsynonymous SNV T24I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.357 220777 chr19 56704366 56704366 C T rs80228467 ZSCAN5B Nonsynonymous SNV G19E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.95 220778 chr12 11139265 11139265 A G rs374836424 TAS2R50 Synonymous SNV N65N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 220779 chr16 4500440 4500440 C T rs143972172 DNAJA3 Synonymous SNV Y274Y 0.003 0 0 0 3 0 0 0 0 0 0 0 7.621 220780 chr16 4659863 4659863 G A rs531541598 UBALD1 Nonsynonymous SNV A77V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 220781 chr6 26043679 26043679 G A rs547034704 H2BC3 Synonymous SNV D69D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 1.598 220782 chr19 14139065 14139065 G A rs775291830 RLN3 Nonsynonymous SNV G17R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 220783 chr12 118472814 118472814 T G rs138971577 WSB2 Synonymous SNV P133P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.39 220784 chr6 26184077 26184077 C A rs777712658 H2BC6 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 220785 chr17 1552970 1552970 C T rs367678615 RILP Synonymous SNV A43A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.88 220786 chr17 1630911 1630911 G T rs146618090 WDR81 Synonymous SNV L886L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.021 220787 chr17 2091729 2091729 G A rs35173108 SMG6 Nonsynonymous SNV R76C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.86 220788 chr6 28331517 28331517 - C rs760522592 ZKSCAN3 Frameshift insertion Q81Tfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 220789 chr16 15680599 15680599 G T BMERB1 Nonsynonymous SNV E159D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 220790 chr19 58868201 58868201 G T rs770448722 ZNF497 Synonymous SNV I267I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.563 220791 chr12 122684754 122684754 T C rs377630216 LRRC43 Synonymous SNV T456T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 220792 chr20 57829528 57829528 G A rs115600647 ZNF831 Synonymous SNV T1588T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.85 220793 chr19 621143 621143 T C POLRMT Nonsynonymous SNV K852R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.29 220794 chr12 124371783 124371783 C T rs767015407 DNAH10 Nonsynonymous SNV A2855V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 220795 chr12 125397817 125397817 G A rs374437342 UBC Synonymous SNV L167L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.615 220796 chr16 24788255 24788255 G A TNRC6A Synonymous SNV V55V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 220797 chr6 35210949 35210949 C T rs377686036 SCUBE3 Synonymous SNV A614A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.51 220798 chr16 27782957 27782957 G A rs202124589 KIAA0556 Synonymous SNV P1394P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.432 220799 chr2 86400875 86400875 C T rs376275324 IMMT Nonsynonymous SNV G107S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 220800 chr2 86440754 86440754 C T rs59150256 MRPL35 Synonymous SNV H172H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.094 220801 chr2 86479089 86479089 A T rs368965566 REEP1 Synonymous SNV A109A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.036 220802 chr12 132212849 132212849 A G rs757180902 SFSWAP Synonymous SNV V319V 0 0 0.007 0 0 0 0 2 0 0 0 0 9.297 220803 chr17 4719160 4719160 T C rs760139600 PLD2 Synonymous SNV Y462Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.39 220804 chr19 17766904 17766904 G T rs201556079 UNC13A Nonsynonymous SNV S357R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 220805 chr19 17838898 17838898 G A rs753996400 MAP1S Nonsynonymous SNV R876Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 220806 chr12 132633436 132633567 CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC - NOC4L D299Efs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 220807 chr6 37622234 37622234 G A rs372928750 MDGA1 Synonymous SNV G266G 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.33 220808 chr12 13529227 13529227 G A rs11055389 LINC01559 0 0 0.014 0 0 0 0 4 0 0 0 0 11.86 220809 chr17 5389440 5389440 T C DERL2 Synonymous SNV P14P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.227 220810 chr19 847912 847912 C G PRTN3 Synonymous SNV L238L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.21 220811 chr16 31926516 31926516 C T ZNF267 Nonsynonymous SNV H316Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 220812 chr19 872014 872014 G A rs201161227 MED16 Synonymous SNV P670P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.71 220813 chr12 1965211 1965211 G A rs369720566 CACNA2D4 Nonsynonymous SNV R707C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 220814 chr19 876989 876989 G A rs150192510 MED16 Synonymous SNV T515T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.901 220815 chr12 21036464 21036464 A G rs150998576 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV Y509C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 220816 chr16 50136262 50136262 A C rs113298310 HEATR3 Synonymous SNV A381A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.047 220817 chr12 25257327 25257327 G A rs147775174 LRMP Nonsynonymous SNV R360H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 220818 chr16 56602793 56602793 C T MT4 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 220819 chr16 57552546 57552546 C T rs148280040 CCDC102A Synonymous SNV L343L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.8 220820 chr21 34923935 34923964 TCCATGGACTCCCAGATGTTAGCAACCAGC - SON S830_S839del 0 0 0 1 0 0 0.003 0 0 0 0 0 220821 chr6 44144696 44144696 C T rs185943934 CAPN11 Nonsynonymous SNV R400C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 220822 chr3 11301661 11301661 C T rs201210547 HRH1 Nonsynonymous SNV A313V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.168 220823 chr12 39725496 39725496 T C rs142268373 KIF21A Nonsynonymous SNV N1014S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 12.8 220824 chr3 113049118 113049118 T C rs768381106 CFAP44 Nonsynonymous SNV K1338R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.523 220825 chr16 58610430 58610430 C T rs201250006 CNOT1 Nonsynonymous SNV M547I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 220826 chr3 113955302 113955302 T C rs778472424 ZNF80 Nonsynonymous SNV H207R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.59 220827 chr16 69776499 69776499 C T rs548183878 NOB1 Synonymous SNV S325S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 220828 chr17 10361034 10361034 A G rs35349985 MYH4 Nonsynonymous SNV F534L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.78 220829 chr16 70841756 70841756 C T rs1046576176 HYDIN Synonymous SNV S5031S 0.001 0 0 0 1 0 0 0 0 0 0 0 12 220830 chr17 11461133 11461133 G A rs377499688 SHISA6 Nonsynonymous SNV G339S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 220831 chr17 12666966 12666966 C T rs765717105 LOC100128006 0 0.003 0 0 0 1 0 0 0 0 0 0 7.596 220832 chr3 122354731 122354731 A G rs202111356 PARP15 Synonymous SNV P304P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.015 220833 chr17 16326963 16326963 T C rs147612597 TRPV2 Nonsynonymous SNV M269T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 220834 chr16 74773947 74773947 G A rs141276237 FA2H Nonsynonymous SNV R113W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 220835 chr17 17069441 17069441 C T rs1026184529 MPRIP Synonymous SNV L1544L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 220836 chr16 75513240 75513240 C T CHST6 Nonsynonymous SNV E163K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 220837 chr17 18003681 18003681 C T rs200673460 DRG2 Synonymous SNV L158L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 220838 chr6 56481793 56481793 C T rs752133375 DST Nonsynonymous SNV E2158K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.38 220839 chr1 1026853 1026853 G A rs767342177 C1orf159 Nonsynonymous SNV T24M 0 0 0 1 0 0 0.003 0 0 0 0 0 5.843 220840 chr1 10706383 10706383 G A rs199629726 CASZ1 Synonymous SNV N1166N 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.742 220841 chr17 20914571 20914571 G A rs768873460 USP22 Synonymous SNV P332P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.09 220842 chr11 48346642 48346642 A C rs778942243 OR4C3 Nonsynonymous SNV R23S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 220843 chr3 129304821 129304821 C T rs146738111 PLXND1 Nonsynonymous SNV E609K 0.003 0 0 0 3 0 0 0 0 0 0 0 21 220844 chr6 76369068 76369068 A G rs182107571 SENP6 Nonsynonymous SNV Y207C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.353 220845 chr12 53454733 53454733 G A rs533679959 TNS2 Nonsynonymous SNV A1025T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 220846 chr22 19055645 19055645 G A rs368669602 DGCR2 Nonsynonymous SNV A58V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.865 220847 chr6 86282090 86282090 C A rs113111730 SNX14, SNX14 Nonsynonymous SNV Q88H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.43 220848 chr1 1120421 1120421 C T rs146121068 TTLL10 Nonsynonymous SNV R372C 0 0 0 3 0 0 0.008 0 0 0 0 0 21.1 220849 chr22 20100086 20100086 C G rs201281834 TRMT2A X644Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 220850 chr17 30980900 30980900 G A rs371863840 MYO1D Synonymous SNV D852D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.305 220851 chr3 141011898 141011898 A G rs142918405 PXYLP1 Nonsynonymous SNV T432A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 220852 chr12 57594909 57594909 G A rs777824091 LRP1 Nonsynonymous SNV G3440R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 220853 chr17 35880737 35880737 C A rs150039501 SYNRG Synonymous SNV S1021S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 220854 chr12 60168571 60168571 T G rs779174693 SLC16A7 Nonsynonymous SNV N165K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 220855 chr17 37371478 37371478 T C rs149760893 STAC2 Nonsynonymous SNV S56G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 220856 chr6 170627703 170627703 - CCAGGCAAGAAGTTCCCATGTGTACAGGCCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGGCCCTGAAG FAM120B E432_A433insPRQEVPMCTGPEARQEVPMCTGPE 0.001 0 0 0 1 0 0 0 0 0 0 0 220857 chr1 1273365 1273365 T C rs201374747 DVL1 Nonsynonymous SNV Q569R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.92 220858 chr12 6707491 6707491 T C rs371336037 CHD4 Nonsynonymous SNV N521S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 220859 chr17 910546 910546 G A rs34760946 ABR Synonymous SNV A234A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.43 220860 chr12 74544819 74544819 C G rs914950817 LOC100507377 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 220861 chr22 32937643 32937643 G A SYN3 Synonymous SNV A277A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 220862 chr17 1962083 1962083 C T HIC1 Nonsynonymous SNV A719V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 220863 chr17 39671868 39671868 A G rs562624944 KRT15 Nonsynonymous SNV I368T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 220864 chr19 50713631 50713631 C T MYH14 Synonymous SNV A3A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.96 220865 chr17 48696252 48696252 C G CACNA1G Nonsynonymous SNV S1854R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 220866 chr17 7416643 7416643 C A POLR2A Nonsynonymous SNV P1687H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 220867 chr17 7751029 7751029 C T rs774548555 KDM6B Nonsynonymous SNV R475C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 220868 chr13 25030615 25030615 C T rs139822298 PARP4 Nonsynonymous SNV R809H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 220869 chr3 25777861 25777861 G A rs542203452 NGLY1 Nonsynonymous SNV T345I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.414 220870 chr3 30769844 30769844 G A GADL1 Nonsynonymous SNV H486Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 220871 chr3 30769845 30769845 C T rs376871595 GADL1 Synonymous SNV P485P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 220872 chr13 28844841 28844841 A C PAN3 Nonsynonymous SNV Q599P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 220873 chr7 141727503 141727503 G A rs377442966 MGAM Nonsynonymous SNV V397M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 220874 chr17 10216578 10216578 C T rs371382799 MYH13 Nonsynonymous SNV E1360K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 220875 chr7 143077363 143077363 G A rs901901505 LOC100507507 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 220876 chr2 107459844 107459844 G A rs528424981 ST6GAL2 Nonsynonymous SNV S197F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 220877 chr17 66033259 66033259 A C KPNA2 Nonsynonymous SNV N4T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 220878 chr3 39161453 39161453 C T rs201135470 TTC21A Nonsynonymous SNV T240I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.775 220879 chr13 73329308 73329308 G C BORA Nonsynonymous SNV R494T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 220880 chr17 72949718 72949718 C T rs761715416 HID1 Synonymous SNV Q631Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.95 220881 chr17 72999370 72999370 G C CDR2L Nonsynonymous SNV G200A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.57 220882 chr7 195656 195656 C T rs545268162 FAM20C Synonymous SNV Y236Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.576 220883 chr14 100795724 100795724 C T rs201658248 SLC25A47 Synonymous SNV A77A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 220884 chr3 47044239 47044239 C T NBEAL2 Synonymous SNV H1768H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.801 220885 chr17 29119392 29119392 T C SUZ12P1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.074 220886 chr19 55873686 55873686 G T FAM71E2 Nonsynonymous SNV T164N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 220887 chr19 55888999 55888999 G A rs892026048 TMEM190 Nonsynonymous SNV G45S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 220888 chr3 48508237 48508237 G A rs55852466 TREX1 Synonymous SNV P51P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.955 220889 chr3 49161194 49161194 G A LAMB2 Nonsynonymous SNV T1255I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.77 220890 chr3 49680200 49680200 C T BSN Nonsynonymous SNV A378V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 220891 chr14 105287902 105287902 G A rs555113301 LINC00638 0 0 0.01 0 0 0 0 3 0 0 0 0 2.257 220892 chr17 36667019 36667019 C T rs557734782 ARHGAP23 Synonymous SNV G1429G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.74 220893 chr2 165349650 165349650 G A rs144301087 GRB14 Nonsynonymous SNV H420Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 220894 chr17 38569742 38569742 C T TOP2A Synonymous SNV K156K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 220895 chr17 77921593 77921593 C T rs117000719 TBC1D16 Nonsynonymous SNV V152I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.94 220896 chr3 58520238 58520238 G T rs147361432 ACOX2 Nonsynonymous SNV H58N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.858 220897 chr19 57954886 57954886 G A ZNF749 Nonsynonymous SNV E37K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.767 220898 chr1 193038421 193038421 A G rs201973307 RO60 Synonymous SNV S79S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.735 220899 chr2 170394547 170394547 G A rs369748449 FASTKD1 Nonsynonymous SNV R661C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 220900 chr7 44270611 44270611 C T rs748985577 CAMK2B Nonsynonymous SNV A344T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 220901 chr14 23874928 23874928 C T rs397516758 MYH6 Nonsynonymous SNV D85N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.2 220902 chr17 79171966 79171966 C T rs117891655 CEP131 Synonymous SNV V473V 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 7.941 220903 chr1 200572995 200572995 G A rs747430628 KIF14 Nonsynonymous SNV T121M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.19 220904 chr14 24769778 24769778 T C NOP9 Nonsynonymous SNV C138R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 220905 chr17 39723810 39723810 A G rs146001104 KRT9 Synonymous SNV G529G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.393 220906 chr14 38091760 38091760 G A rs570411107 TTC6 Nonsynonymous SNV R180H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 220907 chr14 38091761 38091761 C T rs539560498 TTC6 Synonymous SNV R180R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 220908 chr20 2844632 2844632 G A VPS16 Nonsynonymous SNV R361Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.41 220909 chr7 55233128 55233128 C T rs533525993 EGFR Synonymous SNV Y359Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.27 220910 chr18 5415918 5415918 G A rs144002108 EPB41L3 Nonsynonymous SNV L656F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 220911 chr18 6948418 6948418 G A rs199804823 LAMA1 Synonymous SNV S2898S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 220912 chr17 45730168 45730168 C G rs61750353 KPNB1 Nonsynonymous SNV P70A 0.009 0.008 0 1 10 3 0.003 0 0 0 0 0 11.93 220913 chr4 1087667 1087667 G A rs768917964 RNF212 Nonsynonymous SNV R128W 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 220914 chr17 46691763 46691763 G A rs749106433 HOXB8 Nonsynonymous SNV P102S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.159 220915 chr18 12971215 12971215 C T rs142041554 SEH1L Synonymous SNV A195A 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 Benign 15.99 220916 chr18 21044495 21044495 C T RIOK3 Nonsynonymous SNV P133L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 220917 chr18 21745068 21745068 C T rs916672263 OSBPL1A Nonsynonymous SNV R391H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 220918 chr17 54588594 54588594 C T rs765525489 ANKFN1 Synonymous SNV A1067A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.59 220919 chr1 214792539 214792539 A T rs762679372 CENPF Synonymous SNV A183A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.167 220920 chr2 202498137 202498137 T C rs750961270 TMEM237 Nonsynonymous SNV T98A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.33 220921 chr18 32954134 32954134 G A ZNF396 Synonymous SNV H41H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.014 220922 chr2 203003190 203003190 C T KIAA2012 Nonsynonymous SNV L623F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 220923 chr17 60111225 60111225 A C rs144337667 MED13 Nonsynonymous SNV L246W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 24.8 220924 chr11 93420939 93420939 C T rs990243869 CEP295 Nonsynonymous SNV T415M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 220925 chr14 68162408 68162408 T G rs756765586 RDH11 Nonsynonymous SNV M5L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 220926 chr14 72196827 72196827 G A rs112095928 SIPA1L1 Nonsynonymous SNV R1557Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 220927 chr18 44595644 44595644 C T rs148972019 KATNAL2 Synonymous SNV Y149Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.26 220928 chr14 75471592 75471592 C T rs113994011 EIF2B2 Nonsynonymous SNV P196S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 220929 chr2 21228339 21228339 A T rs12713540 APOB Nonsynonymous SNV S3801T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 220930 chr12 105538508 105538508 A G rs751342172 WASHC4 Nonsynonymous SNV H732R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 220931 chr4 155410958 155410958 G T rs929594461 DCHS2 Nonsynonymous SNV P517Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 220932 chr14 80328223 80328223 C T rs138628835 NRXN3 Synonymous SNV N610N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.379 220933 chr17 72584975 72584975 G A rs529615042 CD300LD Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.802 220934 chr12 110205833 110205833 C T rs11068193 FAM222A Synonymous SNV S33S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.83 220935 chr2 220046839 220046839 C T rs575011586 RETREG2 Nonsynonymous SNV R167C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.559 220936 chr12 113333629 113333629 G A rs61942351 RPH3A Synonymous SNV L568L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 9.618 220937 chr14 95923671 95923671 C T rs763785289 SYNE3 Nonsynonymous SNV R211H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 26.3 220938 chr20 47253151 47253151 G A rs138468239 PREX1 Synonymous SNV S1339S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 220939 chr20 47864195 47864195 T C rs778600945 ZNFX1 Nonsynonymous SNV Y1789C 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 220940 chr1 234586237 234586237 T C rs146073309 TARBP1 Nonsynonymous SNV T600A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.261 220941 chr17 74740438 74740438 G A MFSD11 Synonymous SNV T125T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 220942 chr12 120750374 120750374 G A rs150394622 SIRT4 Nonsynonymous SNV V205I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 220943 chr19 460883 460883 C T rs182361580 SHC2 Synonymous SNV A38A 0.003 0.008 0 2 4 3 0.005 0 1 1 0 1 12.19 220944 chr17 76799766 76799766 A G rs145591044 USP36 Synonymous SNV T837T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.717 220945 chr15 33446161 33446161 G A rs530390581 FMN1 Nonsynonymous SNV R319W 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 220946 chr15 33955051 33955051 G A rs114430766 RYR3 Nonsynonymous SNV V1774M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.64 220947 chr12 123477127 123477127 G A rs200408972 PITPNM2 Nonsynonymous SNV R775W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 220948 chr1 243663057 243663057 G C AKT3, SDCCAG8 Nonsynonymous SNV N462K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 220949 chr4 2886381 2886381 C T rs145970845 ADD1 Synonymous SNV Y166Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 220950 chr2 239040200 239040200 G A rs757439212 ESPNL Nonsynonymous SNV G581R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 220951 chr2 239103488 239103488 G A rs539165323 ILKAP Synonymous SNV L27L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.187 220952 chr2 241468887 241468887 C T rs201536200 ANKMY1 Nonsynonymous SNV E85K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 220953 chr15 45003805 45003805 A G B2M Nonsynonymous SNV I21V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 220954 chr20 62373838 62373838 A G rs199721279 SLC2A4RG Nonsynonymous SNV E277G 0.003 0.005 0 3 4 2 0.008 0 0 0 0 0 Likely benign 23.4 220955 chr15 45440621 45440621 C T rs148902727 DUOX1 Nonsynonymous SNV R932C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.6 220956 chr2 242129583 242129583 G A rs61749471 ANO7 Synonymous SNV S35S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.029 220957 chr18 2763667 2763667 G T rs770018521 SMCHD1 Nonsynonymous SNV L1533F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 220958 chr19 4343914 4343914 C G rs747937769 MPND Nonsynonymous SNV R73G 0 0.003 0 0 0 1 0 0 0 0 0 0 25 220959 chr1 248756791 248756791 C A OR2T10 Synonymous SNV S93S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 220960 chr21 37618657 37618657 A G rs773030017 DOP1B Nonsynonymous SNV E1460G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.74 220961 chr21 37783862 37783862 G A rs749877526 CHAF1B Nonsynonymous SNV V341M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 33 220962 chr19 5214593 5214593 C T rs746085047 PTPRS Synonymous SNV T1044T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 220963 chr15 69238570 69238570 A G SPESP1 Nonsynonymous SNV I233V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.588 220964 chr2 43506979 43506979 C T rs112504846 THADA Nonsynonymous SNV E1741K 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 34 220965 chr15 75132595 75132595 G A rs754838324 ULK3 Nonsynonymous SNV R226C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 220966 chr18 33877920 33877920 C T FHOD3 Nonsynonymous SNV T41I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 220967 chr18 42531184 42531184 C T rs146193261 SETBP1 Nonsynonymous SNV R627C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 220968 chr15 75500094 75500096 AAG - rs767899006 C15orf39 K569del 0 0 0.003 0 0 0 0 1 0 0 0 0 220969 chr15 75641479 75641479 G C rs754429131 NEIL1 Nonsynonymous SNV R164P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 220970 chr21 45750578 45750578 - GGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGG CFAP410 G255_L256insPVGREHGASQGPVGREHGASQG 0.001 0 0 0 1 0 0 0 0 0 0 0 220971 chr15 78475115 78475115 A G rs759666048 ACSBG1 Synonymous SNV L222L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.924 220972 chr15 79502168 79502168 G T rs41280052 MIR184 0 0 0.014 0 0 0 0 4 0 0 0 0 11.78 220973 chr15 80216113 80216113 C T rs573088042 ST20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.713 220974 chr18 56184198 56184198 G A rs200620811 ALPK2 Nonsynonymous SNV A1961V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 220975 chr15 83951894 83951894 C T rs1005379712 BNC1 Nonsynonymous SNV S24N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.023 220976 chr7 99084711 99084711 C T rs775592281 ZNF789 Nonsynonymous SNV T276M 0.003 0 0 0 3 0 0 0 0 0 0 0 18.67 220977 chr1 44157180 44157180 C T rs141609782 KDM4A Synonymous SNV V752V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.14 220978 chr8 3165949 3165949 G A rs141170475 CSMD1 Synonymous SNV T1236T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.39 220979 chr18 60795971 60795971 C T rs148811059 BCL2 Nonsynonymous SNV G203S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 220980 chr4 961349 961349 G A rs139692925 DGKQ Synonymous SNV A325A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.895 220981 chr8 42977671 42977671 A G rs200742772 POMK Nonsynonymous SNV N235S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.56 220982 chr8 55372004 55372004 C A rs765346092 SOX17 Nonsynonymous SNV P232T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 220983 chr22 22869694 22869694 C T rs150360634 ZNF280A Synonymous SNV S87S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.589 220984 chr18 74649216 74649216 G A rs372028039 ZNF236 Nonsynonymous SNV A1567T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 220985 chr22 24107034 24107034 G A rs141469034 C22orf15 Nonsynonymous SNV V129I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 220986 chr8 6312714 6312714 G A rs189380942 MCPH1 Nonsynonymous SNV G626S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.997 220987 chr19 11417362 11417362 G A rs146263760 TSPAN16 Nonsynonymous SNV S153N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.5 220988 chr19 12461861 12461861 G A rs139605905 ZNF442 Nonsynonymous SNV R111C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 220989 chr18 77796710 77796710 G A rs767699439 RBFA Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 220990 chr19 12975956 12975956 C T rs777913244 MAST1 Synonymous SNV H534H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.558 220991 chr19 13318672 13318672 - CTG rs879255546 CACNA1A Q2325_A2326insQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 220992 chr16 1035131 1035131 C T rs777748762 SOX8 Synonymous SNV S362S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 9.042 220993 chr19 14499537 14499537 A G rs201012570 ADGRE5 Nonsynonymous SNV N33D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.193 220994 chr19 1241961 1241961 A G rs199675494 ATP5F1D Nonsynonymous SNV M38V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 220995 chr16 15692802 15692802 C T rs776550027 MARF1 Synonymous SNV S1631S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 220996 chr9 100074426 100074426 C T rs377165805 CCDC180 Stop gain R142X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 220997 chr9 100388124 100388124 - T rs777408855 TSTD2 Frameshift insertion T108Dfs*23 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 220998 chr12 70048945 70048945 A T BEST3 Synonymous SNV G370G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 220999 chr19 16860183 16860183 C T rs61747578 NWD1 Synonymous SNV L38L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.689 221000 chr19 16860895 16860895 G A rs76563274 NWD1 Nonsynonymous SNV R275Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.018 221001 chr19 16918549 16918549 G A rs144013868 NWD1 Nonsynonymous SNV E1091K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 221002 chr19 16918918 16918918 C T rs147984852 NWD1 Nonsynonymous SNV R1214C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.44 221003 chr19 3543358 3543358 C G rs557865552 C19orf71 Nonsynonymous SNV S70W 0.001 0 0 0 1 0 0 0 0 0 0 0 23 221004 chr16 19710825 19710825 C T rs754855735 VPS35L Nonsynonymous SNV A790V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 221005 chr19 17346628 17346628 G A NR2F6 Nonsynonymous SNV A207V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 221006 chr16 2339489 2339489 G A rs139524317 ABCA3 Synonymous SNV D882D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.073 221007 chr16 27974490 27974490 C T rs189933895 GSG1L Synonymous SNV P128P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 221008 chr16 2819142 2819142 T C rs374269313 SRRM2 Synonymous SNV S2626S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 221009 chr16 28507154 28507154 G A APOBR Synonymous SNV G264G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.401 221010 chr19 5151452 5151452 G A rs200297667 KDM4B Nonsynonymous SNV R1074Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 221011 chr16 29821419 29821419 - GGCGGCGGCAGCGGC MAZ A143_V144insAAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 221012 chr19 19043753 19043753 T C rs771625826 HOMER3 Synonymous SNV L135L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 221013 chr19 19120862 19120862 C T rs765089400 SUGP2 Nonsynonymous SNV G714S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.162 221014 chr12 94673299 94673299 T C rs146747324 PLXNC1 Nonsynonymous SNV C1217R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 26.6 221015 chr8 145559724 145559724 G T rs148930478 SCRT1 Nonsynonymous SNV H36Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 12.58 221016 chr9 123290133 123290133 T A CDK5RAP2 Nonsynonymous SNV D317V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 221017 chr12 99121060 99121060 G A rs765405502 APAF1 Nonsynonymous SNV G1135D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 221018 chr22 47103884 47103884 T C rs16995615 CERK Nonsynonymous SNV I191V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 221019 chr9 125316187 125316187 T C OR1N2 Nonsynonymous SNV S233P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 221020 chr19 7965034 7965034 C T rs778982100 LRRC8E Nonsynonymous SNV R414W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 221021 chr19 7965072 7965072 C T rs147626459 LRRC8E Synonymous SNV D426D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.045 221022 chr16 3614166 3614166 A G rs745462806 NLRC3 Nonsynonymous SNV F258L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.044 221023 chr19 8196488 8196488 G A rs200478312 FBN3 Nonsynonymous SNV P647L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 221024 chr13 110435551 110435551 G T rs34889228 IRS2 Synonymous SNV S950S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.362 221025 chr13 111082900 111082900 C T rs74124319 COL4A2 Synonymous SNV P198P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 13.01 221026 chr9 127119280 127119280 C G LOC100129034 0.001 0 0 0 1 0 0 0 0 0 0 0 6.216 221027 chr16 46552201 46552201 C A rs117165801 ANKRD26P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.837 221028 chr9 130473695 130473695 C T rs199787134 CFAP157 Stop gain Q259X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 221029 chr13 114062027 114062027 C T rs1026798131 LOC101928841 Nonsynonymous SNV E160K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.161 221030 chr13 114152761 114152761 T G rs1039871697 TMCO3 Nonsynonymous SNV I183M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.528 221031 chr13 114780782 114780782 G A rs78831157 RASA3 Synonymous SNV R404R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.255 221032 chr19 9012825 9012825 A T MUC16 Nonsynonymous SNV H12873Q 0.004 0 0 0 5 0 0 0 0 0 0 0 0.005 221033 chr19 9012832 9012832 T G rs796235811 MUC16 Nonsynonymous SNV D12871A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.65 221034 chr16 57470642 57470642 T C rs200237174 CIAPIN1 Nonsynonymous SNV N92D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.28 221035 chr16 57695760 57695760 C G rs201661515 ADGRG1 Nonsynonymous SNV L611V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 221036 chr16 57794995 57794995 G A rs200679980 KIFC3 Nonsynonymous SNV T552M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 221037 chr19 9064317 9064317 A - rs763803966 MUC16 I7710Tfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 221038 chr16 58036446 58036446 G A rs143792185 USB1 Synonymous SNV P54P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.837 221039 chr16 58074019 58074019 C T rs779342878 MMP15 Synonymous SNV P227P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 221040 chr3 148847660 148847660 G T rs777624550 HPS3 Nonsynonymous SNV E50D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 221041 chr5 173036438 173036438 - CACACTCTGCCTCAAACCATTTCGCAATTGGTTT rs776384091 BOD1 0.001 0 0 0 1 0 0 0 0 0 0 0 221042 chr5 174869749 174869749 G A rs191953032 DRD1 Synonymous SNV S118S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.584 221043 chr5 175751676 175751676 T C rs751865201 SIMC1 Nonsynonymous SNV V138A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 221044 chr9 134382804 134382804 C T rs138064523 POMT1 Synonymous SNV L56L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 10.85 221045 chr19 38827890 38827890 A G rs761209613 CATSPERG Nonsynonymous SNV M6V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.391 221046 chr16 67292276 67292276 T A rs768684916 SLC9A5 Nonsynonymous SNV Y417N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 221047 chr19 38934212 38934212 G A RYR1 Synonymous SNV G95G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.08 221048 chr16 67575361 67575361 A G RIPOR1 Nonsynonymous SNV H281R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 221049 chr16 683355 683355 C T rs774833448 WFIKKN1 Synonymous SNV V315V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.594 221050 chr19 39226172 39226172 G A rs141011501 CAPN12 Synonymous SNV D532D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14 221051 chr19 39227901 39227901 G T rs371409650 CAPN12 Synonymous SNV G419G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.197 221052 chr9 136218924 136218924 G A rs372660779 SURF1 Synonymous SNV I166I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 221053 chr20 25275617 25275617 G A rs2500429 ABHD12 Synonymous SNV L403L 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 3.456 221054 chr1 1562227 1562227 G A rs750557291 MIB2 Nonsynonymous SNV R413H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.97 221055 chr19 39971519 39971519 C T rs35135520 TIMM50 Nonsynonymous SNV S9L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 221056 chr19 39989915 39989915 C T rs373980582 DLL3 Synonymous SNV S51S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 14.54 221057 chr20 25457010 25457010 C T rs428801 NINL Nonsynonymous SNV E973K 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 0.626 221058 chr20 25460806 25460806 C T rs364722 NINL Synonymous SNV L636L 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 10.93 221059 chr20 25481622 25481622 T C rs379538 NINL Nonsynonymous SNV T296A 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 9.248 221060 chrX 66765164 66765164 - GCAGCAGCAGCAGCA AR Q80_E81insQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 221061 chrX 70444064 70444064 C T rs373334326 GJB1 Synonymous SNV D169D 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign/Likely benign 5.82 221062 chr9 138555221 138555221 C T rs183281614 LCN9 Synonymous SNV F18F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.53 221063 chr19 40964430 40964430 C A BLVRB Synonymous SNV V34V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.58 221064 chr20 31811735 31811735 C T rs113151188 BPIFA3 Synonymous SNV S82S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.41 221065 chr19 42213898 42213898 C T rs781988963 CEACAM5 Synonymous SNV L122L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.78 221066 chr20 32162037 32162037 G A rs146826289 CBFA2T2 Nonsynonymous SNV E11K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.577 221067 chr20 32198931 32198931 C G rs41287066 CBFA2T2 Synonymous SNV T70T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.13 221068 chr20 32247769 32247769 C T rs183841365 NECAB3 Nonsynonymous SNV G189S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.871 221069 chr20 32255607 32255607 C A rs116576871 ACTL10 Nonsynonymous SNV H102N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.65 221070 chr20 32255882 32255882 G T rs41290882 ACTL10 Synonymous SNV A193A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.209 221071 chr20 32257204 32257204 C T rs41301829 NECAB3 Nonsynonymous SNV A122T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.03 221072 chr20 32265331 32265331 C T rs35807460 E2F1 Synonymous SNV T247T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 221073 chrX 107018607 107018607 C T rs777090204 TSC22D3 Nonsynonymous SNV D15N 0.005 0 0 0 6 0 0 0 2 0 0 0 34 221074 chr20 33859577 33859577 C A rs61729977 MMP24 Synonymous SNV P513P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.52 221075 chr5 50687227 50687227 C T rs41268419 ISL1 Synonymous SNV S295S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.13 221076 chr9 140396121 140396121 A G rs116928397 PNPLA7 Nonsynonymous SNV V486A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.2 221077 chr20 42885835 42885835 C T rs780744062 GDAP1L1 Nonsynonymous SNV R75W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 221078 chr1 14108508 14108508 T C rs755338341 PRDM2 Synonymous SNV S1205S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.825 221079 chr16 87339388 87339388 C T C16orf95 Nonsynonymous SNV V152I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 221080 chr16 88781612 88781612 C T rs371031341 CTU2 Nonsynonymous SNV P481L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 221081 chr1 19209889 19209889 C T rs201780333 ALDH4A1 Nonsynonymous SNV A103T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 221082 chr5 66461275 66461275 C T rs1024103454 MAST4 Nonsynonymous SNV R1829W 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.21 221083 chr1 20009768 20009768 - G rs745696356 TMCO4 Frameshift insertion H557Pfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 221084 chr16 88933013 88933013 A G rs376945700 PABPN1L Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 221085 chr19 48801261 48801261 T C CCDC114 Nonsynonymous SNV T463A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.063 221086 chr16 89263715 89263715 G A rs190309297 SLC22A31 Nonsynonymous SNV T324M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 221087 chr16 89390803 89390803 C T rs115071747 LOC100287036 Nonsynonymous SNV A63V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.586 221088 chr19 20727460 20727627 CTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTATGTCTAGTAAGGATAAAGGAGCGCTTAAAAGCCTTGCCACATCGTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTATGTGCAGTAAGGTGTGAGGACGAGTTGAAGG - ZNF737 A461_K516del 0.001 0 0 0 1 0 0 0 0 0 0 0 221089 chr1 22213780 22213780 G A rs746706819 HSPG2 Nonsynonymous SNV H336Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 221090 chr17 1198881 1198881 G A rs200766728 TRARG1 Nonsynonymous SNV V162I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.258 221091 chr1 3389757 3389757 A G rs41315284 ARHGEF16 Nonsynonymous SNV N380D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 26.1 221092 chr1 3564047 3564047 G C rs745859408 WRAP73 Nonsynonymous SNV D49E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 221093 chr1 24134739 24134739 C T HMGCL Synonymous SNV G141G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.27 221094 chr9 71650748 71650748 G T FXN Nonsynonymous SNV S17I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.327 221095 chr17 17163689 17163689 G A rs373742862 COPS3 Nonsynonymous SNV R183C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 221096 chr19 31770534 31770534 G A rs187062441 TSHZ3 Synonymous SNV A55A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 221097 chr19 32844151 32844151 G A rs745604662 ZNF507 Nonsynonymous SNV V139M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 221098 chr19 33353412 33353412 T C SLC7A9 Nonsynonymous SNV I187V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 221099 chr1 8395532 8395532 G C rs771920541 SLC45A1 Nonsynonymous SNV E527D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.88 221100 chr19 34833079 34833079 C T rs78855695 KIAA0355 Nonsynonymous SNV P747L 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 12.3 221101 chr17 1961901 1961901 G C HIC1 Nonsynonymous SNV E658D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 221102 chr19 34868776 34868776 T C rs8191371 GPI Nonsynonymous SNV I180T 0.003 0.008 0.01 0 4 3 0 3 0 0 0 0 Likely benign 25.1 221103 chr1 11826325 11826325 G C rs778754381 C1orf167 Nonsynonymous SNV R161P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.37 221104 chr19 36227600 36227600 C T rs367682204 KMT2B Nonsynonymous SNV S2390L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 221105 chr19 36246684 36246684 C T rs371899193 HSPB6 Nonsynonymous SNV E104K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 221106 chr9 91991867 91991867 G A rs202211452 SEMA4D Nonsynonymous SNV P588L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.751 221107 chr19 36297592 36297592 G A rs147676909 PRODH2 Synonymous SNV Y349Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.971 221108 chr9 96422596 96422596 C A rs148116185 PHF2 Synonymous SNV L484L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 221109 chrX 129306214 129306214 A G rs758520981 RAB33A Nonsynonymous SNV T60A 0.002 0 0 0 2 0 0 0 1 0 0 0 6.262 221110 chr19 54418627 54418627 C T CACNG7 Nonsynonymous SNV R98C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 221111 chrX 140994325 140994325 C T rs58254237 MAGEC1 Nonsynonymous SNV P379S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.813 221112 chrX 140994330 140994330 C T MAGEC1 Synonymous SNV S380S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.67 221113 chr1 20305005 20305005 G C rs758065887 PLA2G2A Nonsynonymous SNV A18G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.1 221114 chr6 12126028 12126028 C T rs35509237 HIVEP1 Synonymous SNV Y2000Y 0.003 0 0 0 3 0 0 0 0 0 0 0 8.626 221115 chr19 39995900 39995900 C T rs781626135 DLL3 Nonsynonymous SNV P301L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 221116 chr17 36614480 36614480 C T ARHGAP23 Synonymous SNV P66P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.34 221117 chr1 45806750 45806750 G C rs149814343 TOE1 Nonsynonymous SNV V20L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 221118 chr19 40719942 40719942 A C MAP3K10 Nonsynonymous SNV T786P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 221119 chr21 39764328 39764328 C T rs747584221 ERG Nonsynonymous SNV G170S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.44 221120 chr19 42265357 42265357 G A rs143709500 CEACAM6 Nonsynonymous SNV D209N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 221121 chr17 38928322 38928322 C T rs185169985 KRT26 Nonsynonymous SNV R15Q 0 0 0.014 0 0 0 0 4 0 0 0 0 10.56 221122 chr1 52704552 52704552 T G ZFYVE9 Nonsynonymous SNV V488G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 221123 chr21 43162045 43162045 G C RIPK4 Nonsynonymous SNV D436E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.018 221124 chr6 144758852 144758852 T C UTRN Nonsynonymous SNV L404P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 221125 chr19 56125261 56125266 TCCTCG - rs762894169 ZNF865 S116_S117del 0 0.003 0 0 0 1 0 0 0 0 0 0 221126 chr19 44470146 44470146 C T rs757802335 ZNF221 Synonymous SNV H164H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.268 221127 chr3 73433272 73433272 G A rs61739225 PDZRN3 Synonymous SNV P513P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.887 221128 chr19 56422048 56422048 C T rs148594029 NLRP13 Synonymous SNV T721T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 221129 chr6 150004574 150004574 T C rs191162901 LATS1 Nonsynonymous SNV N271D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.219 221130 chr19 56487619 56487619 C G rs61734100 NLRP8 Nonsynonymous SNV I923M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.73 221131 chr6 150386574 150386574 C T rs766523449 ULBP3 Synonymous SNV R196R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.988 221132 chr19 44833563 44833563 C T rs771098155 ZNF112 Synonymous SNV E188E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.09 221133 chrX 51150218 51150218 G C rs782238170 EZHIP Nonsynonymous SNV G117A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 221134 chr6 152629660 152629660 G A SYNE1 Synonymous SNV N5699N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.879 221135 chr6 152647435 152647435 G T rs372944943 SYNE1 Nonsynonymous SNV Q5026K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 221136 chr19 45287653 45287653 C T rs370388709 CBLC Synonymous SNV D304D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 221137 chrX 67283798 67283798 G A rs139691746 OPHN1 Nonsynonymous SNV P686S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 0.067 221138 chrX 70602654 70602654 A G rs746549166 TAF1 Nonsynonymous SNV N570S 0.002 0 0 0 2 0 0 0 1 0 0 0 22.9 221139 chr19 57988033 57988033 A C ZNF772 Nonsynonymous SNV M14R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 221140 chr9 18622357 18622357 C T rs144137851 ADAMTSL1 Synonymous SNV S197S 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 18.37 221141 chr17 41835930 41835930 C T rs139856590 SOST Synonymous SNV E60E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 221142 chr10 101294965 101294965 C A rs78122843 NKX2-3 Synonymous SNV I194I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.2 221143 chr19 47570459 47570459 G A rs201967618 ZC3H4 Synonymous SNV N1022N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.318 221144 chr17 42940110 42940110 G A rs150104145 EFTUD2 Synonymous SNV T491T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.5 221145 chr19 58946219 58946219 C T rs753088504 ZNF132 Nonsynonymous SNV G198R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.23 221146 chr10 102059412 102059412 A C rs200474106 PKD2L1 Stop gain L91X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 38 221147 chr1 40555107 40555107 C T PPT1 Nonsynonymous SNV A68T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 221148 chr17 46239889 46239889 C T SKAP1 Nonsynonymous SNV G306D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 221149 chr19 49813069 49813069 G A rs141735197 SLC6A16 Nonsynonymous SNV R239W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 221150 chr17 48249352 48249352 A G rs573994102 HILS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.636 221151 chr17 48277279 48277279 G C rs546629502 COL1A1 Nonsynonymous SNV L45V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 221152 chr17 4837077 4837077 C T rs569872698 GP1BA Nonsynonymous SNV P393L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 221153 chr6 170089092 170089092 G C rs76614139 WDR27 Nonsynonymous SNV P4A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.14 221154 chr1 45500107 45500107 C T rs147865806 ZSWIM5 Nonsynonymous SNV D776N 0.003 0 0 0 3 0 0 0 0 0 0 0 27.8 221155 chr19 50365057 50365057 - GTTGTCGATGGCGACCC rs587784365 PNKP Frameshift insertion T424Gfs*49 0.001 0 0 0 1 0 0 0 0 0 0 0 221156 chr19 50963307 50963307 - C MYBPC2 Frameshift insertion I937Hfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 221157 chr20 10030617 10030617 G A rs148551222 ANKEF1 Nonsynonymous SNV R467Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 221158 chr20 10603858 10603858 C T rs969638373 SLX4IP Nonsynonymous SNV T353I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 221159 chr1 110558139 110558139 G A AHCYL1 Synonymous SNV V209V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.251 221160 chr17 56604155 56604155 G A rs138328226 SEPTIN4 Nonsynonymous SNV S74L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.12 221161 chr17 56604157 56604157 G C rs143848009 SEPTIN4 Synonymous SNV P73P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.922 221162 chr4 154625531 154625531 C T rs139078841 TLR2 Nonsynonymous SNV T491I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 221163 chr17 61684657 61684657 G A rs943906927 TACO1 Nonsynonymous SNV A176T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.51 221164 chr20 21492690 21492690 G T rs147743109 NKX2-2 Synonymous SNV G231G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 221165 chr10 133058653 133058653 - TGGCGA TCERG1L A241_T242insIA 0 0.003 0 0 0 1 0 0 0 0 0 0 221166 chr22 37407193 37407193 C T rs144544206 TST Nonsynonymous SNV V257M 0 0 0 1 0 0 0.003 0 0 0 0 0 19.63 221167 chr6 38654693 38654693 A G GLO1 Nonsynonymous SNV F48L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 221168 chr17 694910 694910 C T MRM3 Synonymous SNV D92D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 221169 chr1 150955865 150955865 G A rs370376651 ANXA9 Nonsynonymous SNV V43M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 221170 chr1 151015509 151015509 A G BNIPL Nonsynonymous SNV T89A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.373 221171 chr10 13639479 13639479 C T rs145928720 PRPF18 Nonsynonymous SNV R30C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.3 221172 chr10 13696425 13696425 C A rs138561619 FRMD4A Nonsynonymous SNV W705L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 221173 chr17 72758247 72758247 C T rs200609318 SLC9A3R1 Nonsynonymous SNV R180W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 221174 chr6 42981033 42981033 G A rs370024563 MEA1 Synonymous SNV G28G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 221175 chr17 73017140 73017140 G A rs186190090 MRPL58 Nonsynonymous SNV R219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.19 221176 chr15 51773722 51773722 T C rs577849075 DMXL2 Nonsynonymous SNV T1225A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.13 221177 chr19 55604533 55604533 C T rs751623499 PPP1R12C Synonymous SNV P583P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 221178 chr20 45317978 45317978 G A rs761561027 TP53RK Nonsynonymous SNV R26W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 221179 chr1 155154392 155154392 C T TRIM46 Synonymous SNV D425D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 221180 chr19 55870015 55870015 G A rs769496041 FAM71E2 Nonsynonymous SNV R741C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 221181 chr1 156438070 156438070 G A rs754134505 MEF2D Synonymous SNV H416H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 221182 chr19 56041229 56041229 C G rs756975961 SBK2 Synonymous SNV G306G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 221183 chr19 56104407 56104407 - C FIZ1 Frameshift insertion G301Rfs*83 0.001 0 0 0 1 0 0 0 0 0 0 0 221184 chr20 50705047 50705047 C T rs753689886 ZFP64 Nonsynonymous SNV S152N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 221185 chr6 5260912 5260912 C T LYRM4 Nonsynonymous SNV E19K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 221186 chr17 76170950 76170950 C T rs771221497 TK1 Nonsynonymous SNV G232R 0 0 0.007 0 0 0 0 2 0 0 0 0 16.19 221187 chrX 36177586 36177586 C T rs899444258 CFAP47 Nonsynonymous SNV R1944C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.99 221188 chr10 468825 468825 C T rs377380348 DIP2C Synonymous SNV T181T 0 0.005 0 0 0 2 0 0 0 0 0 0 13.85 221189 chr20 60882802 60882802 G T rs370134759 ADRM1 Synonymous SNV P219P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 221190 chr17 77707316 77707316 C T rs201000413 ENPP7 Synonymous SNV I88I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.38 221191 chr17 78064051 78064051 A - CCDC40 R983Gfs*59 0 0.005 0.003 0 0 2 0 1 0 1 0 0 221192 chr17 78064053 78064083 GGGACGCGCGCGGGCACGTGCACGAACAACA - CCDC40 R983Pfs*49 0 0.005 0.003 0 0 2 0 1 0 1 0 0 221193 chr10 50121550 50121550 G A rs150055684 LRRC18 Synonymous SNV A217A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.945 221194 chr17 79514217 79514217 C T rs755141804 FAAP100 Nonsynonymous SNV V631I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 221195 chr20 62200160 62200160 - TGT rs751318869 HELZ2 D427delinsEH 0 0.003 0 0 0 1 0 0 0 0 0 0 221196 chr17 79526405 79526405 G A rs139547131 NPLOC4 Synonymous SNV Y574Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.666 221197 chr10 55582217 55582228 AAGGAGGAGAAA - rs746591991 PCDH15 I1713_S1717delinsT 0 0.003 0 0 0 1 0 0 0 0 0 0 221198 chr10 55780139 55780139 C T rs763530050 PCDH15 Nonsynonymous SNV R784Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.6 221199 chr20 408138 408138 - A rs774461310 RBCK1 0.001 0 0 0 1 0 0 0 0 0 0 0 221200 chr10 61819714 61819714 T A rs200320007 ANK3 Nonsynonymous SNV T737S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 221201 chr17 80273254 80273254 G A rs757217518 CD7 Synonymous SNV Y222Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.183 221202 chr18 12697266 12697266 G A rs776243918 CEP76 Nonsynonymous SNV S146L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.8 221203 chr18 12697267 12697267 A C rs759456241 CEP76 Nonsynonymous SNV S146A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.41 221204 chr21 33044257 33044259 GCT - rs752510963 SCAF4 Q951del 0 0.003 0 0 0 1 0 0 0 0 0 0 221205 chr10 71136835 71136835 G A HK1 Nonsynonymous SNV A309T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 221206 chr18 18622174 18622174 A G ROCK1 Synonymous SNV D281D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.759 221207 chr21 34029161 34029161 C G rs375526059 SYNJ1 Nonsynonymous SNV E872D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.89 221208 chr10 75407295 75407295 G A SYNPO2L Synonymous SNV T481T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.941 221209 chr10 75673763 75673763 A G rs150389556 PLAU Nonsynonymous SNV I219V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.84 221210 chr20 19634743 19634743 C G rs147680736 SLC24A3 Nonsynonymous SNV S217C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 221211 chr1 200586891 200586891 A G rs769396740 KIF14 Nonsynonymous SNV F321L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 221212 chr21 42720528 42720528 C T rs370045496 FAM3B Synonymous SNV N117N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.733 221213 chr18 43314345 43314345 G A rs756218171 SLC14A1 Nonsynonymous SNV V18I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.257 221214 chr1 154941889 154941889 A G rs914388915 SHC1 Synonymous SNV R177R 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 8.463 221215 chr1 201177841 201177841 A T IGFN1 Nonsynonymous SNV I1274F 0.001 0 0 0 1 0 0 0 0 0 0 0 22 221216 chr20 31024425 31024425 C G rs747267907 ASXL1 Nonsynonymous SNV L1243V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 221217 chr20 31473404 31473404 G A rs373987935 EFCAB8 Synonymous SNV L175L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.26 221218 chr18 54603110 54603110 G T rs148451297 WDR7 Nonsynonymous SNV A1236S 0 0 0.003 0 0 0 0 1 0 0 0 0 30 221219 chr20 32210967 32210967 C T rs139150224 CBFA2T2 Nonsynonymous SNV A186V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 221220 chr10 93744099 93744099 C T BTAF1 Nonsynonymous SNV H789Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.89 221221 chr21 44836748 44836748 G A rs199872172 SIK1, SIK1B Synonymous SNV P742P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.341 221222 chr20 33329677 33329677 A G rs61754977 NCOA6 Synonymous SNV D1461D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.366 221223 chr10 13166053 13166053 A T rs142812715 OPTN Nonsynonymous SNV Q314L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 221224 chr10 13213069 13213069 G A rs763512324 MCM10 Nonsynonymous SNV G52D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 221225 chr20 37631451 37631452 TG - DHX35 V234Gfs*58 0.001 0 0 0 1 0 0 0 0 0 0 0 221226 chr20 40739003 40739003 G A rs775998497 PTPRT Nonsynonymous SNV P1075L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 221227 chr18 627190 627190 G A rs146434876 CLUL1 Nonsynonymous SNV E173K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.5 221228 chr20 44180722 44180722 T A rs375486844 WFDC8 Synonymous SNV P223P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.53 221229 chr16 1388574 1388574 G C rs373479839 BAIAP3 Nonsynonymous SNV K8N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.6 221230 chr18 7032074 7032074 G A rs148714534 LAMA1 Synonymous SNV G755G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 221231 chr18 7049146 7049146 C T rs146352388 LAMA1 Synonymous SNV T233T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 221232 chr20 45130234 45130236 AGA - rs774494095 ZNF334 F543del 0.001 0 0 0 1 0 0 0 0 0 0 0 221233 chr20 45130983 45130983 C T rs202007181 ZNF334 Nonsynonymous SNV R294Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.181 221234 chr1 160811231 160811231 C G rs200475714 CD244 Nonsynonymous SNV D147H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.97 221235 chr20 45174465 45174465 C T rs117208520 OCSTAMP Nonsynonymous SNV R183Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 221236 chr18 74962627 74962627 C T GALR1 Synonymous SNV G41G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 221237 chr21 47805822 47805822 C T rs150619117 PCNT Nonsynonymous SNV R1012W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 221238 chr10 135186829 135186829 G C ECHS1 Synonymous SNV A3A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.48 221239 chr2 171638771 171638771 A G rs1024653144 ERICH2 Nonsynonymous SNV N247S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.537 221240 chr18 77401940 77401940 G A rs73480951 LOC284241 0 0 0.02 0 0 0 0 6 0 0 0 0 6.112 221241 chr20 47990521 47990521 C T rs140932636 KCNB1 Nonsynonymous SNV V526I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.4 221242 chr22 17630485 17630485 T C rs989217128 HDHD5 Nonsynonymous SNV N63D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 221243 chr22 18300523 18300523 G A rs775830864 MICAL3 Nonsynonymous SNV A1635V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.802 221244 chr22 18609712 18609712 G A rs151102020 TUBA8 Nonsynonymous SNV V257M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 26.2 221245 chr10 17026205 17026205 A C CUBN Nonsynonymous SNV M1475R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 221246 chr2 179432808 179432808 A G rs758905508 TTN Synonymous SNV N16952N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.829 221247 chr10 19498376 19498376 C A MALRD1 Nonsynonymous SNV Q920K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 221248 chr20 60885586 60885586 G A LAMA5 Nonsynonymous SNV H3497Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 221249 chr10 3143642 3143642 G A rs780240567 PFKP Nonsynonymous SNV R90Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.08 221250 chr11 107526660 107526660 T C rs755226469 ELMOD1 Nonsynonymous SNV Y226H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 221251 chr22 30136701 30136701 G C rs145672061 ZMAT5 Nonsynonymous SNV S70C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 221252 chr11 110561317 110561317 A C rs768919471 ARHGAP20 Synonymous SNV A24A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.051 221253 chr22 30517650 30517650 G A rs202031841 HORMAD2 Nonsynonymous SNV G59E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 221254 chr22 30690794 30690794 G A rs146463718 TBC1D10A Synonymous SNV S239S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.02 221255 chr2 197184618 197184618 T C rs10172730 HECW2 Synonymous SNV P332P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 1.885 221256 chr2 197948209 197948209 C T rs150062198 ANKRD44 Synonymous SNV A447A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.04 221257 chr16 3019691 3019691 G A rs774389710 PAQR4 Nonsynonymous SNV G6R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 221258 chr19 14829638 14829638 A C rs370890400 ZNF333 Nonsynonymous SNV H269P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 221259 chr2 202172256 202172256 T C rs199908248 FLACC1 Nonsynonymous SNV I289V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.78 221260 chr7 149462941 149462941 G A rs61740105 ZNF467 Nonsynonymous SNV P217L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 221261 chr10 48429393 48429393 C G GDF10 Nonsynonymous SNV G165R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.905 221262 chr2 203149103 203149103 T C rs376854416 NOP58 Synonymous SNV V111V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.143 221263 chr2 203500041 203500049 AGCAGCAGC - FAM117B Q48_Q50del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 221264 chr19 15296162 15296162 G A rs140040122 NOTCH3 Synonymous SNV A734A 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 7.526 221265 chr19 1567566 1567566 G C rs778457833 MEX3D Synonymous SNV A164A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.7 221266 chr19 16000308 16000308 C T rs940769535 CYP4F2 Synonymous SNV Q281Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.04 221267 chr21 33830017 33830017 A T EVA1C Nonsynonymous SNV K157I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 221268 chr21 34713314 34713314 G A IFNAR1 Nonsynonymous SNV M70I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.839 221269 chr1 202288090 202288090 C T rs140402059 LGR6 Nonsynonymous SNV R748W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 221270 chr11 119535992 119535992 G T rs375956459 NECTIN1 Nonsynonymous SNV P340Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.4 221271 chr11 120107408 120107408 G A POU2F3 Nonsynonymous SNV G9E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 221272 chr1 204587394 204587394 G A rs149200582 LRRN2 Nonsynonymous SNV P576L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 221273 chr16 50744753 50744753 C T rs104895427 NOD2 Nonsynonymous SNV R284W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 221274 chr22 40351845 40351845 G A GRAP2 Stop gain W34X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 221275 chr19 17837760 17837760 C T rs763217911 MAP1S Nonsynonymous SNV R497W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 221276 chr2 220073352 220073352 A G rs967639703 ZFAND2B Nonsynonymous SNV Q172R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.317 221277 chr19 19309480 19309480 A G rs199975671 RFXANK Synonymous SNV P170P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 221278 chr19 19603241 19603241 C A GATAD2A Synonymous SNV A132A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 221279 chr10 75051762 75051762 C T rs774066061 CFAP70 Nonsynonymous SNV R472H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 221280 chr21 45535239 45535239 G A rs146454881 LOC102724159, PWP2 Nonsynonymous SNV D189N 0.001 0 0 0 1 0 0 0 0 0 0 0 30 221281 chr21 45978234 45978248 GGCTTGCAGCAGACA - rs782447296 KRTAP10-3 V118_P122del 0.001 0 0 0 1 0 0 0 0 0 0 0 221282 chr10 79397263 79397263 - GAGGAGGAGGAG KCNMA1 S60_V61insSSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 221283 chr21 46929995 46929995 C T rs763125574 COL18A1 Synonymous SNV L1348L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.185 221284 chr1 223536694 223536694 G A rs748583497 SUSD4 Nonsynonymous SNV S25F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.88 221285 chr19 30934874 30934874 C T rs201984847 ZNF536 Synonymous SNV C135C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.836 221286 chr11 1276353 1276353 G A rs374559407 MUC5B Synonymous SNV T5249T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.047 221287 chr19 35451191 35451191 A G ZNF792 Synonymous SNV S77S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.886 221288 chr19 35556165 35556165 C T rs770165910 HPN Nonsynonymous SNV P275S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 221289 chr22 19125733 19125733 G A rs753377366 ESS2 Nonsynonymous SNV A307V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 221290 chr10 93668216 93668216 G A FGFBP3 Nonsynonymous SNV R171W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 221291 chr19 35899361 35899361 C T rs142762399 LINC01531 0 0 0.007 0 0 0 0 2 0 0 0 0 6.391 221292 chr19 36046401 36046401 C G ATP4A Nonsynonymous SNV V700L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 221293 chr7 45011344 45011344 G A rs149001196 MYO1G Synonymous SNV A258A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 221294 chr19 36494356 36494364 GAGGAGGAA - rs779182461 SYNE4 F251_L253del 0 0 0.003 0 0 0 0 1 0 0 0 0 221295 chr7 45123257 45123257 G A rs10276909 NACAD Nonsynonymous SNV A841V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.687 221296 chr7 45123761 45123761 C T rs776292570 NACAD Nonsynonymous SNV G673D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 221297 chrX 15315789 15315789 G T rs145809121 ASB11 Nonsynonymous SNV N71K 0 0.005 0 0 0 2 0 0 0 1 0 0 27.4 221298 chrX 15373275 15373277 TCT - rs776058089 VEGFD E212del 0.003 0.008 0 0 3 3 0 0 1 1 0 0 221299 chrX 15373359 15373359 T C rs1020187289 VEGFD Nonsynonymous SNV N185S 0 0.005 0 0 0 2 0 0 0 1 0 0 25.2 221300 chrX 15584420 15584420 A G rs4646179 ACE2 Synonymous SNV N690N 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign 0.003 221301 chrX 15864026 15864026 A G rs61741688 AP1S2 Synonymous SNV S96S 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign/Likely benign 11.94 221302 chr19 37310183 37310184 GA - rs556524944 ZNF790 Q355Afs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 221303 chrX 16859676 16859676 G A rs759042778 TXLNG Synonymous SNV Q326Q 0 0.005 0 0 0 2 0 0 0 1 0 0 1.64 221304 chr1 229594036 229594036 G A rs767331134 NUP133 Nonsynonymous SNV A951V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 221305 chrX 18913279 18913279 G A rs139033266 PHKA2 Nonsynonymous SNV L1105F 0 0.005 0 0 0 2 0 0 0 1 0 0 28 221306 chr11 19077901 19077901 C T MRGPRX2 Nonsynonymous SNV G17R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.883 221307 chr11 20075745 20075745 T C rs747988171 NAV2 Nonsynonymous SNV V598A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 221308 chr22 24460606 24460606 C T rs138795791 CABIN1 Nonsynonymous SNV R615W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 221309 chr2 27916563 27916563 A G rs751029947 SLC4A1AP Synonymous SNV T761T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 221310 chr19 38056088 38056088 G A rs143272285 ZNF571 Synonymous SNV T414T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 221311 chr19 38314815 38314815 G A rs150086528 LOC100631378 0 0 0.003 0 0 0 0 1 0 0 0 0 7.61 221312 chr16 87446015 87446015 C A ZCCHC14 Nonsynonymous SNV R771L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 221313 chr19 38375738 38375738 T C rs200123506 WDR87 Nonsynonymous SNV Q2858R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 221314 chrX 49047949 49047949 C T SYP Nonsynonymous SNV G296E 0 0.005 0 0 0 2 0 0 0 1 0 0 23.4 221315 chrX 53243993 53243993 C T KDM5C Nonsynonymous SNV D267N 0 0.005 0 0 0 2 0 0 0 1 0 0 24.1 221316 chr22 31032951 31032951 C G SLC35E4 Nonsynonymous SNV L172V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 221317 chr22 31487002 31487002 G A rs267606223 SMTN Synonymous SNV R387R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.704 221318 chr11 2929539 2929539 T C SLC22A18 Nonsynonymous SNV L159P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 221319 chr22 31688300 31688300 C T PIK3IP1 Nonsynonymous SNV V11I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.894 221320 chr19 41055160 41055160 G A rs374772742 SPTBN4 Synonymous SNV A151A 0 0 0.007 0 0 0 0 2 0 0 0 0 15.41 221321 chr19 41248427 41248427 C T rs199734797 C19orf54 Nonsynonymous SNV G151S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 221322 chr1 245530217 245530217 C T rs575005302 KIF26B Nonsynonymous SNV R183C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 221323 chr19 41858895 41858895 G A rs72480425 TGFB1 Synonymous SNV L19L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.257 221324 chr22 36717852 36717852 G A rs556214390 MYH9 Synonymous SNV R240R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.22 221325 chr2 47184066 47184066 G T rs61746139 TTC7A Nonsynonymous SNV R146L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 221326 chr1 247737450 247737450 C T rs768929122 GCSAML Synonymous SNV N26N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.94 221327 chr19 42729056 42729056 G A rs57984044 ZNF526 Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.271 221328 chr19 42796858 42796858 G A CIC Nonsynonymous SNV A1106T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.593 221329 chr19 42880726 42880726 C T rs115428796 MEGF8 Synonymous SNV G2712G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.87 221330 chr19 42914609 42914609 G A rs34044249 LIPE Synonymous SNV R423R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.48 221331 chr19 4292607 4292607 C T rs947660484 TMIGD2 Nonsynonymous SNV G160R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 221332 chr19 42930652 42930652 C T rs3745238 LIPE Nonsynonymous SNV R217Q 0 0 0.01 0 0 0 0 3 0 0 0 0 1.675 221333 chr19 42930773 42930773 A T rs16975748 LIPE Nonsynonymous SNV S177T 0 0 0.01 0 0 0 0 3 0 0 0 0 0.443 221334 chr11 103014031 103014031 C T rs746202883 DYNC2H1 Nonsynonymous SNV A870V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 221335 chrX 133986889 133986889 T G FAM122C Nonsynonymous SNV F135L 0 0.005 0 0 0 2 0 0 0 1 0 0 4.354 221336 chr11 45247643 45247643 G A rs750114813 PRDM11 Synonymous SNV A489A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.766 221337 chr22 38221044 38221044 C A rs749411626 GALR3 Nonsynonymous SNV A225E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 221338 chr19 44273982 44273982 - T rs574008067 KCNN4 0 0 0.003 0 0 0 0 1 0 0 0 0 221339 chr2 3483006 3483006 C T TRAPPC12 Nonsynonymous SNV A661V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 221340 chr11 47183174 47183174 C T rs75415432 C11orf49 Synonymous SNV D318D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 221341 chr11 47371330 47371330 T C rs138753870 MYBPC3 Nonsynonymous SNV S217G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.62 221342 chr19 44590753 44590753 T C rs114253786 ZNF284 Synonymous SNV N374N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 221343 chr1 248756791 248756791 C T rs61743160 OR2T10 Synonymous SNV S93S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.497 221344 chr11 1096455 1096455 C T rs367687506 MUC2 Synonymous SNV I2160I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.05 221345 chr2 10187871 10187871 C T rs139111425 KLF11 Nonsynonymous SNV T119M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.161 221346 chr19 46145573 46145573 G A rs990946122 EML2 Synonymous SNV D70D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 221347 chr17 18874710 18874710 G A rs778257113 FAM83G Nonsynonymous SNV R812W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 221348 chr1 1720547 1720547 A G rs151315046 GNB1 Synonymous SNV A187A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.419 221349 chr19 46318429 46318429 T A RSPH6A Synonymous SNV G2G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.449 221350 chr17 19644439 19644439 G C rs574046532 ALDH3A1 Nonsynonymous SNV N258K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.848 221351 chr19 47951190 47951190 G A SLC8A2 Nonsynonymous SNV R547C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 221352 chr1 6007252 6007252 C T rs757868037 NPHP4 Nonsynonymous SNV R344H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 221353 chr6 101053548 101053548 C T ASCC3 Synonymous SNV G1691G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.22 221354 chr19 49385340 49385340 G C TULP2 Nonsynonymous SNV R466G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 221355 chr1 6641242 6641242 G A ZBTB48 Synonymous SNV G191G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.682 221356 chr1 7724028 7724028 G A rs145242440 CAMTA1 Nonsynonymous SNV R444Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 221357 chr11 5068639 5068639 T C rs149126762 OR52J3 Nonsynonymous SNV V295A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 221358 chr2 69709863 69709863 C G AAK1 Nonsynonymous SNV S816T 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 221359 chr19 50017385 50017385 G A FCGRT Nonsynonymous SNV G107E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.44 221360 chr11 123811081 123811081 C T OR4D5 Nonsynonymous SNV P253L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 221361 chr6 116289788 116289788 G T rs751691209 FRK Nonsynonymous SNV T194N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.916 221362 chr1 11140893 11140893 T C rs200988527 EXOSC10 Nonsynonymous SNV Q505R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 221363 chr2 110372531 110372531 G C SOWAHC Nonsynonymous SNV K155N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 221364 chrX 9660156 9660156 T C rs7062597 TBL1X Synonymous SNV S200S 0.004 0 0 0 5 0 0 0 1 0 0 0 1.646 221365 chrX 12736711 12736711 G A rs1036437887 FRMPD4 Nonsynonymous SNV V1216M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.19 221366 chr2 74598713 74598713 G A rs11555695 DCTN1 Nonsynonymous SNV P65L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 221367 chr8 142176337 142176337 A C rs780409767 DENND3 Nonsynonymous SNV R534S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 221368 chr8 143399919 143399919 G A rs143733651 TSNARE1 Nonsynonymous SNV R105C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 221369 chr8 144512278 144512278 C T rs756470274 MAFA Nonsynonymous SNV G100D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.283 221370 chrX 49076092 49076092 C T rs886044841 CACNA1F 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 25.6 221371 chrX 50051969 50051969 G A rs368387720 CCNB3 Nonsynonymous SNV S267N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 221372 chr1 17318873 17318873 C T rs368423685 ATP13A2 Nonsynonymous SNV V619I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.959 221373 chr2 99413914 99413914 T C rs373997379 KIAA1211L Nonsynonymous SNV R835G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.9 221374 chrX 53226980 53226980 G A rs371450943 KDM5C Synonymous SNV C798C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.17 221375 chr2 44559769 44559769 T C rs143700474 PREPL Nonsynonymous SNV I332M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 221376 chr6 138751816 138751816 T C NHSL1 Synonymous SNV E1226E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 221377 chr8 144697065 144697065 G A rs770957284 TSTA3 Synonymous SNV N100N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.498 221378 chr19 52919939 52919939 A G rs140563818 ZNF528 Nonsynonymous SNV K612E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 221379 chrX 55478938 55478938 C T MAGEH1 Nonsynonymous SNV P44L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 221380 chr11 126294829 126294829 C T rs375855596 KIRREL3 Synonymous SNV L649L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 12.67 221381 chrX 65242128 65242128 T C rs779159156 VSIG4 Nonsynonymous SNV T299A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.348 221382 chr11 128709105 128709105 T C rs748305494 KCNJ1 Nonsynonymous SNV D364G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 221383 chr11 128842940 128842940 T C rs34661752 ARHGAP32 Nonsynonymous SNV E791G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.34 221384 chr11 129830836 129830836 C T rs757291881 PRDM10 Synonymous SNV S8S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 221385 chr17 3848085 3848085 C A rs1018988898 ATP2A3 Nonsynonymous SNV Q400H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.96 221386 chr1 22176940 22176940 C T rs139284792 HSPG2 Nonsynonymous SNV E2405K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 221387 chr19 54691116 54691116 C T MBOAT7 Nonsynonymous SNV R87Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 221388 chr11 56237502 56237502 T A rs148100298 OR5M3 Nonsynonymous SNV T158S 0 0.003 0.01 0 0 1 0 3 0 0 0 0 22.4 221389 chr19 54758864 54758864 G A rs776657865 LILRB5 Nonsynonymous SNV P230L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.9 221390 chr19 55396865 55396865 C T rs372465584 FCAR Nonsynonymous SNV R85C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 221391 chr8 145693148 145693148 C T rs202037452 KIFC2 Synonymous SNV L223L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 221392 chr6 158363847 158363847 - TCAGG SNX9 Frameshift insertion S590Rfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 221393 chr11 57098401 57098401 C T SSRP1 Synonymous SNV R408R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.9 221394 chrX 140714588 140714588 T A rs782044018 LOC645188 Nonsynonymous SNV S110T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.014 221395 chr2 170606007 170606007 A G rs745997628 KLHL23, PHOSPHO2-KLHL23 Nonsynonymous SNV Y481C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 221396 chr8 19315986 19315986 G A rs751473570 CSGALNACT1 Nonsynonymous SNV P268S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 221397 chr2 174081887 174081887 G A MAP3K20 Nonsynonymous SNV R299H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 221398 chr1 29527085 29527085 C A rs34835902 MECR Nonsynonymous SNV R182L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.1 221399 chr19 56565076 56565076 G A NLRP5 Synonymous SNV L1067L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.521 221400 chr1 29630387 29630387 G T rs61729921 PTPRU Nonsynonymous SNV V833F 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.9 221401 chr1 29641953 29641953 C T rs34589663 PTPRU Synonymous SNV G1096G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 221402 chr11 59369198 59369198 C T rs117772602 OSBP Synonymous SNV A312A 0 0.003 0 0 0 1 0 0 0 0 0 0 15 221403 chr11 59423027 59423027 G C rs749588955 PATL1 Nonsynonymous SNV P334A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 221404 chr8 23191110 23191110 C T rs139417842 LOXL2 Nonsynonymous SNV R257H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 221405 chr19 57132750 57132750 G T rs150356083 ZNF71 Nonsynonymous SNV G32V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 221406 chr1 880474 880474 G A rs371539737 NOC2L Synonymous SNV D702D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.014 221407 chr2 179610906 179610906 C T rs397517819 TTN Synonymous SNV P5407P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.089 221408 chr19 58189620 58189620 G C ZSCAN4 Nonsynonymous SNV V217L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 221409 chr19 58499667 58499667 T A rs772014834 ZNF606 Nonsynonymous SNV N13I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 221410 chr1 39824899 39824899 G A rs749725260 MACF1 Synonymous SNV E2007E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 221411 chr17 46059060 46059060 C T rs1008002331 CDK5RAP3 Nonsynonymous SNV P304L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.973 221412 chr11 613840 613840 C T rs368135573 IRF7 Synonymous SNV P235P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.46 221413 chr19 58791115 58791115 G A rs565267405 ZNF8-ERVK3-1 0 0 0.01 0 0 0 0 3 0 0 0 0 6.19 221414 chr1 1238587 1238587 G A rs368876707 ACAP3 Synonymous SNV G60G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.23 221415 chr19 619267 619267 G A rs749166486 POLRMT Synonymous SNV L1032L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.369 221416 chr2 108869860 108869860 C T rs919534637 SULT1C3 Nonsynonymous SNV H121Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 221417 chr1 41483693 41483693 G A rs41268105 SLFNL1 Nonsynonymous SNV R191W 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.31 221418 chr2 111431801 111431801 T C rs755753586 BUB1 Synonymous SNV Q9Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.54 221419 chr19 685884 685884 A G PRSS57 Synonymous SNV A227A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.41 221420 chr11 43427369 43427371 AGA - rs769935672 TTC17 E546del 0.001 0 0 0 1 0 0 0 0 0 0 0 221421 chr11 43471757 43471757 G A rs138115777 TTC17 Nonsynonymous SNV S971N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 221422 chr8 38110506 38110506 G A rs765137700 DDHD2 Nonsynonymous SNV M554I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 221423 chr8 38682863 38682863 C G TACC1 Nonsynonymous SNV L67V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 221424 chr8 41789998 41789998 T C rs750315709 KAT6A Nonsynonymous SNV M1914V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.67 221425 chr3 141497660 141497660 G A rs576789062 GRK7 Stop gain W178X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 38 221426 chr6 3012909 3012909 G T NQO2 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 221427 chr2 128464003 128464003 G A WDR33 Nonsynonymous SNV T1302I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 221428 chr3 142681222 142681222 G A rs141024906 PAQR9 Synonymous SNV F319F 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 5.071 221429 chr8 6478957 6478957 T C rs565807162 MCPH1-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.149 221430 chr2 202591470 202591470 A T rs778609581 ALS2 Nonsynonymous SNV S1033R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 221431 chr1 50884534 50884534 G C rs760187428 DMRTA2 Nonsynonymous SNV R478G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 221432 chr1 11836589 11836589 C T C1orf167 Stop gain Q745X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 221433 chr3 153958296 153958296 A G rs559758938 ARHGEF26 Nonsynonymous SNV H743R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 221434 chr8 85785592 85785592 G A RALYL Synonymous SNV G204G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 221435 chr8 87076373 87076373 T C rs34457516 PSKH2 Nonsynonymous SNV T225A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 221436 chr8 87242272 87242272 - TCCACTGCATGGGAAGCTTATACT SLC7A13 G78_A79insSISFPCSG 0.001 0 0 0 1 0 0 0 0 0 0 0 221437 chr8 90993050 90993050 G C NBN Nonsynonymous SNV A131G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.6 221438 chr8 94146691 94146691 T C C8orf87 0.001 0 0 0 1 0 0 0 0 0 0 0 0.22 221439 chr2 219895412 219895412 G A rs145331168 CFAP65 Nonsynonymous SNV A322V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.001 221440 chr1 100340924 100340924 G A AGL Nonsynonymous SNV C399Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.4 221441 chr1 104615888 104615888 G C LOC100129138 0 0 0.003 0 0 0 0 1 0 0 0 0 0.931 221442 chr2 179404507 179404507 A T TTN Nonsynonymous SNV I23697N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.1 221443 chr2 179410270 179410270 C T rs876658093 TTN Nonsynonymous SNV R22791H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24.5 221444 chr2 179597237 179597237 C T rs376037792 TTN Synonymous SNV S4273S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.7 221445 chr11 55322306 55322306 G A rs150813813 OR4C15 Nonsynonymous SNV R121H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 221446 chr3 194062877 194062877 C T rs772320515 CPN2 Synonymous SNV P185P 0 0 0 3 0 0 0.008 0 0 0 0 0 11.54 221447 chr2 231931815 231931815 T C rs750014626 PSMD1 Nonsynonymous SNV I167T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 221448 chr6 56327917 56327917 C G rs1035396080 DST Nonsynonymous SNV W5019S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.9 221449 chr1 26671446 26671446 C T CRYBG2 Nonsynonymous SNV G568E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.439 221450 chr6 64488046 64488046 G C rs557892188 EYS Nonsynonymous SNV T2584S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 17.79 221451 chr1 117568748 117568748 C T rs182131945 LOC101929099 0 0 0.003 0 0 0 0 1 0 0 0 0 9.029 221452 chr3 196388145 196388145 C T rs200884430 NRROS Nonsynonymous SNV S544L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.9 221453 chr9 117139181 117139181 C T rs762206101 AKNA Synonymous SNV T183T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.18 221454 chr2 192257891 192257891 C T rs148788532 MYO1B Synonymous SNV H723H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.79 221455 chr9 117666432 117666432 G T rs770999413 TNFSF8 Nonsynonymous SNV L162I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 221456 chr1 32151316 32151316 C T rs74063959 COL16A1 Nonsynonymous SNV R647H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 221457 chr1 1268954 1268954 C T rs200679891 TAS1R3 Nonsynonymous SNV R557C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 221458 chr1 33235760 33235760 G A rs779193894 KIAA1522 Nonsynonymous SNV G268E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.79 221459 chr1 33236043 33236043 C G rs76655814 KIAA1522 Synonymous SNV S362S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.937 221460 chr1 33241620 33241620 T C rs371220818 YARS1 Nonsynonymous SNV I517V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.003 221461 chr1 13839637 13839637 A G rs540102627 LRRC38 Nonsynonymous SNV L151P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 221462 chr1 144922217 144922217 C T PDE4DIP Nonsynonymous SNV M480I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 221463 chr1 35227224 35227224 G A rs142843509 GJB4 Synonymous SNV K123K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.41 221464 chr6 89978830 89978830 C T rs759334518 GABRR2 Nonsynonymous SNV V138I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.63 221465 chr1 150531882 150531882 C G rs148110558 ADAMTSL4 Synonymous SNV A961A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.4 221466 chr1 150551649 150551649 T C rs151065075 MCL1 Nonsynonymous SNV M120V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.974 221467 chr1 39384974 39384974 G A RHBDL2 Nonsynonymous SNV P51S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.801 221468 chr1 39900230 39900230 C T rs138450442 MACF1 Nonsynonymous SNV R3842W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 34 221469 chr1 40027790 40027790 A T rs774872253 PABPC4 Synonymous SNV S587S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.214 221470 chr1 111690485 111690485 G A rs749655031 CEPT1 Nonsynonymous SNV R50Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 221471 chr9 125852664 125852664 C T rs202089090 RABGAP1 Synonymous SNV N876N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 221472 chr2 209007543 209007543 C T rs548066116 CRYGB Nonsynonymous SNV R116H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 221473 chr1 151783838 151783838 T A rs200283675 RORC Nonsynonymous SNV H432L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 221474 chr1 41283868 41283868 G A rs144434662 KCNQ4 Synonymous SNV E146E 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.06 221475 chr1 113252841 113252841 C T rs41312688 PPM1J Nonsynonymous SNV G488R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 221476 chr1 113255371 113255371 G T rs373932983 PPM1J Nonsynonymous SNV L242I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.87 221477 chr1 43892115 43892115 G A SZT2 Synonymous SNV L1040L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 221478 chr1 153904714 153904714 A G rs199615250 DENND4B Nonsynonymous SNV V1332A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 221479 chr2 219320355 219320355 C T rs750617629 USP37 Nonsynonymous SNV A934T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.43 221480 chr1 44458092 44458092 A G rs183361462 CCDC24 Nonsynonymous SNV D112G 0 0 0 2 0 0 0.005 0 0 0 0 0 3.513 221481 chr1 44459616 44459616 C T rs147650407 CCDC24 Synonymous SNV D25D 0 0 0 2 0 0 0.005 0 0 0 0 0 13.09 221482 chr1 120458791 120458791 G A NOTCH2 Nonsynonymous SNV A2185V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 221483 chr12 10147762 10147762 A G rs377278554 CLEC1B Synonymous SNV D141D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 221484 chr1 45553719 45553719 G C rs893250387 ZSWIM5 Synonymous SNV V262V 0 0 0 2 0 0 0.005 0 0 0 0 0 6.18 221485 chr1 46086042 46086042 G A rs142888180 CCDC17 Nonsynonymous SNV P592S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 221486 chr3 15116031 15116031 C T rs757785100 RBSN Nonsynonymous SNV R538Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 221487 chr3 45807230 45807230 C T rs202052317 SLC6A20 Nonsynonymous SNV V331I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 221488 chr1 156450659 156450659 G A rs144828591 MEF2D Synonymous SNV S121S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 221489 chr12 104136331 104136331 G A rs540663641 STAB2 Synonymous SNV L2010L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.444 221490 chr1 150931681 150931681 A G SETDB1 Synonymous SNV K786K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.853 221491 chr1 151338075 151338075 G A rs764207061 SELENBP1 Synonymous SNV D274D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.99 221492 chr1 156814508 156814508 G A rs146646622 INSRR Synonymous SNV R855R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.838 221493 chr1 51439665 51439665 C T rs746646631 CDKN2C Nonsynonymous SNV A77V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 221494 chr3 48719951 48719951 G A rs146056482 NCKIPSD Nonsynonymous SNV R106C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 221495 chr12 110345480 110345480 G A rs144756698 TCHP Synonymous SNV E225E 0.001 0.01 0 0 1 4 0 0 0 0 0 0 9.483 221496 chr12 110719675 110719675 A G rs3026434 ATP2A2 Synonymous SNV E27E 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Benign 9.34 221497 chr12 110734406 110734406 A G rs55984131 ATP2A2 Synonymous SNV E109E 0.001 0.01 0 0 1 4 0 0 0 0 0 0 Benign/Likely benign 12.34 221498 chr12 110893682 110893682 C A rs79807973 GPN3 Synonymous SNV P207P 0 0.005 0 0 0 2 0 0 0 0 0 0 18.98 221499 chr12 111160015 111160015 C T rs61748070 PPP1CC Synonymous SNV A269A 0 0.005 0 0 0 2 0 0 0 0 0 0 16.07 221500 chr12 111180480 111180480 G A rs143738976 PPP1CC Synonymous SNV S11S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.23 221501 chr1 63068003 63068003 T C rs398122989 ANGPTL3 Nonsynonymous SNV F295L 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 31 221502 chr18 2585176 2585176 C T rs760242654 NDC80 Nonsynonymous SNV T215I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.77 221503 chr11 6261598 6261598 C T rs202030466 CNGA4 Nonsynonymous SNV R192W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 221504 chr3 45067864 45067864 - G CLEC3B Frameshift insertion A6Gfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 221505 chr2 238277408 238277408 C T rs753504530 COL6A3 Synonymous SNV S959S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.91 221506 chr2 238484103 238484103 G T RAB17 Nonsynonymous SNV D152E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.248 221507 chr1 157557698 157557698 C T rs780401749 FCRL4 Synonymous SNV E173E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.24 221508 chr1 78392237 78392237 A G NEXN Nonsynonymous SNV I146V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 221509 chr1 158064871 158064871 C T rs370865476 KIRREL1 Synonymous SNV Y645Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 221510 chr2 239049475 239049475 G A rs367910560 KLHL30 Nonsynonymous SNV R27H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.6 221511 chr12 121691109 121691109 C T rs759546975 CAMKK2 Synonymous SNV S358S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.43 221512 chr1 159901641 159901641 G A rs141409628 IGSF9 Synonymous SNV S441S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 221513 chr3 50685433 50685433 C T rs779952844 MAPKAPK3 Stop gain Q369X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 221514 chr1 174417941 174417941 G A rs200286780 GPR52 Nonsynonymous SNV R231H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 221515 chr1 174418038 174418038 C T rs756971614 GPR52 Synonymous SNV Y263Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.807 221516 chr12 124421796 124421796 C T rs367836688 CCDC92 Nonsynonymous SNV A252T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 17.93 221517 chr3 52437826 52437826 G T BAP1 Synonymous SNV I445I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.381 221518 chr1 167367316 167367316 A G POU2F1 Synonymous SNV K342K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.31 221519 chr1 178269238 178269238 G A rs141488130 RASAL2 Nonsynonymous SNV G148S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 221520 chr1 94930338 94930338 G T rs142075958 ABCD3 Nonsynonymous SNV G52V 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 19.73 221521 chr1 17982514 17982514 G A rs762957667 ARHGEF10L Synonymous SNV A577A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.574 221522 chr7 141867088 141867088 G T rs765473169 MGAM2 Synonymous SNV V943V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.133 221523 chr11 66611308 66611308 C T RCE1 Synonymous SNV L88L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 221524 chr4 110624537 110624537 C T rs144297817 CASP6 Synonymous SNV S5S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 15.77 221525 chr11 69063153 69063153 G A rs117131950 MYEOV Nonsynonymous SNV R21H 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.03 221526 chr3 17131373 17131373 C A rs144997343 PLCL2 Nonsynonymous SNV P992H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 221527 chr1 114354635 114354635 C T rs369673113 RSBN1 Nonsynonymous SNV V134I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 221528 chr1 114441377 114441378 TG - rs587779388 AP4B1 T219Rfs*30 0 0 0 1 0 0 0.003 0 0 0 0 0 221529 chr1 185151148 185151148 G A rs746471398 SWT1 Nonsynonymous SNV S366N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.77 221530 chr3 105572420 105572420 C T CBLB Nonsynonymous SNV R114Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 221531 chr1 201353924 201353924 G A LAD1 Nonsynonymous SNV R391C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 221532 chr3 37458926 37458926 G A rs150550724 C3orf35 Nonsynonymous SNV G57S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.6 221533 chr7 155534721 155534721 C T rs375673744 RBM33 Nonsynonymous SNV S753L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.05 221534 chr1 151137700 151137700 C T rs367579478 LYSMD1 Nonsynonymous SNV G12E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 221535 chr1 151271373 151271373 G T rs371124316 PI4KB Synonymous SNV T310T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.045 221536 chr1 151554166 151554166 C T rs200295384 TUFT1 Stop gain R361X 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 46 221537 chr3 42676757 42676757 T C NKTR Synonymous SNV D354D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.027 221538 chr12 41331490 41331490 G T CNTN1 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 221539 chr11 824777 824777 C T rs142588621 PNPLA2 Nonsynonymous SNV P477L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.18 221540 chr1 203138398 203138398 C T MYBPH Nonsynonymous SNV V405I 0 0.003 0 0 0 1 0 0 0 0 0 0 33 221541 chr1 207135716 207135716 C T rs561968221 FCAMR Nonsynonymous SNV R165H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.042 221542 chr3 44945434 44945434 G A rs750960822 TGM4 Nonsynonymous SNV D344N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.57 221543 chr11 85468707 85468707 C T rs750890771 SYTL2 Nonsynonymous SNV R21Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 221544 chr1 205307629 205307629 C T KLHDC8A Nonsynonymous SNV G285R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 221545 chr1 212553289 212553289 A G rs754371785 PACC1 Nonsynonymous SNV F196L 0 0 0.007 0 0 0 0 2 0 0 0 0 29.8 221546 chr11 9225836 9225836 T C rs200526777 DENND5A Nonsynonymous SNV K83R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.435 221547 chr1 214822081 214822081 A C rs777414037 CENPF Nonsynonymous SNV T2632P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 221548 chr1 209823425 209823425 G A rs115191959 LAMB3 Nonsynonymous SNV R23C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 221549 chr3 49569663 49569663 C T rs146157416 DAG1 Synonymous SNV H573H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.36 221550 chr3 49690083 49690083 C T BSN Nonsynonymous SNV P1032S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.07 221551 chr1 214802410 214802410 C G rs199872430 CENPF Nonsynonymous SNV L364V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 221552 chr12 51115122 51115122 C G rs549808102 DIP2B Nonsynonymous SNV L1037V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 221553 chr1 158151845 158151845 G T rs142254126 CD1D Nonsynonymous SNV A118S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 221554 chrX 16965163 16965163 C T rs747915100 REPS2 Nonsynonymous SNV A60V 0.002 0 0 1 2 0 0.003 0 1 0 0 0 Likely benign 17.42 221555 chr4 185578437 185578437 A C PRIMPOL Nonsynonymous SNV Q48P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 221556 chr1 158815496 158815496 T C rs375524762 MNDA Synonymous SNV N230N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 221557 chr3 132230013 132230013 G C rs142160751 DNAJC13 Nonsynonymous SNV E1740Q 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.69 221558 chr1 160143420 160143420 A G rs753890390 ATP1A4 Nonsynonymous SNV K635R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.01 221559 chr12 53227815 53227815 C T rs771177506 KRT79 Nonsynonymous SNV G77E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.66 221560 chr1 226568894 226568894 T C rs767394876 PARP1 Nonsynonymous SNV N392S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.978 221561 chr12 53293602 53293602 T C rs374204155 KRT8 Nonsynonymous SNV N313S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.57 221562 chr1 160970508 160970508 G A rs116727809 F11R Nonsynonymous SNV R101W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 221563 chr1 229623345 229623345 A G NUP133 Synonymous SNV L404L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.18 221564 chr1 228558792 228558792 C T rs370819057 OBSCN Synonymous SNV P6771P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.01 221565 chrX 49957768 49957768 C T rs148654052 AKAP4 Synonymous SNV K532K 0.002 0.005 0 0 2 2 0 0 1 1 0 0 0.029 221566 chr1 23418835 23418835 C T rs202187077 LUZP1 Synonymous SNV P640P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.02 221567 chrX 70824454 70824454 A G GCNA Nonsynonymous SNV T443A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 221568 chr1 233397844 233397844 G A rs776043496 PCNX2 Nonsynonymous SNV R143C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 221569 chr1 237972240 237972240 C T rs764103963 RYR2 Synonymous SNV L4780L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 221570 chr12 56975029 56975029 A G rs777316431 RBMS2 Nonsynonymous SNV T202A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 221571 chr12 57431355 57431355 T A rs151269703 MYO1A Nonsynonymous SNV I678F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.2 221572 chr1 237948009 237948009 A G rs371680410 RYR2 Nonsynonymous SNV N4333D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.75 221573 chr1 24669382 24669382 G C rs964729493 GRHL3 Nonsynonymous SNV G383A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 221574 chr7 73753101 73753101 C A rs200574175 CLIP2 Nonsynonymous SNV P149T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 221575 chr3 183469993 183469993 C T rs368005924 YEATS2 Nonsynonymous SNV P368S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 221576 chr12 122359544 122359544 G C rs371102905 WDR66 Nonsynonymous SNV E111D 0.005 0.003 0 0 6 1 0 0 0 0 0 0 4.438 221577 chr3 111710532 111710532 T C rs149058527 ABHD10 Synonymous SNV D295D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.932 221578 chr12 123920737 123920737 C T rs143936364 RILPL2 Synonymous SNV A77A 0.005 0.003 0 0 6 1 0 0 0 0 0 0 21.7 221579 chr12 66704191 66704191 T C HELB Synonymous SNV L495L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.151 221580 chr12 67700124 67700124 G A rs17854617 CAND1 Synonymous SNV L892L 0 0.005 0 0 0 2 0 0 0 0 0 0 3.824 221581 chr12 6969372 6969372 G A rs141869825 USP5 Synonymous SNV S396S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.2 221582 chr1 248790374 248790374 T C rs149465466 OR2T11 Nonsynonymous SNV E19G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.331 221583 chr1 201181020 201181020 G T rs763203515 IGFN1 Synonymous SNV G2333G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.019 221584 chr1 201184176 201184176 C T rs759126204 IGFN1 Synonymous SNV D2963D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.76 221585 chr1 26671596 26671596 G A rs745471553 CRYBG2 Nonsynonymous SNV S518F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.742 221586 chr7 99631550 99631550 G A rs754056514 ZKSCAN1 Synonymous SNV S261S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.01 221587 chr12 83359436 83359436 C A TMTC2 Nonsynonymous SNV N349K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 221588 chr12 85434291 85434291 A G LRRIQ1 Synonymous SNV S52S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.388 221589 chr3 122667533 122667533 C A rs372437206 SEMA5B Stop gain G50X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 221590 chr12 9009811 9009811 C T rs202194008 A2ML1 Nonsynonymous SNV P476L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 33 221591 chr1 31408578 31408578 G A SNORD103A, SNORD103B 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 221592 chr10 125506320 125506320 C G rs149753704 CPXM2 Nonsynonymous SNV R744P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 221593 chr12 91347711 91347711 G A rs150754261 CCER1 Nonsynonymous SNV S270F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 221594 chr1 204587226 204587226 A G rs145572339 LRRN2 Nonsynonymous SNV I632T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.84 221595 chr1 32044829 32044829 A C rs138197102 TINAGL1 Nonsynonymous SNV Y7S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 221596 chr3 126160611 126160611 C T rs200492918 ZXDC Synonymous SNV V797V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.997 221597 chr1 206646630 206646630 T A rs377693128 IKBKE Synonymous SNV T20T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 221598 chr1 35851057 35851057 T A rs61750999 ZMYM4 Synonymous SNV I204I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.61 221599 chr1 35858270 35858270 G A rs147372035 ZMYM4 Synonymous SNV A593A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 221600 chr1 35944752 35944752 C T rs1635712 KIAA0319L Nonsynonymous SNV G243D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.483 221601 chr1 35944802 35944802 C T rs376237258 KIAA0319L Synonymous SNV A226A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.896 221602 chr1 36181290 36181290 C T rs369495390 C1orf216 Synonymous SNV E211E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 221603 chr12 977052 977052 G A rs774824248 WNK1 Synonymous SNV P720P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.88 221604 chr8 11058718 11058718 T C XKR6 Nonsynonymous SNV D44G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 221605 chr12 977986 977986 G A rs772825662 WNK1 Nonsynonymous SNV V1032I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 221606 chr1 36551587 36551587 G A rs113338638 TEKT2 Nonsynonymous SNV E145K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 221607 chr10 134039060 134039060 G A rs749645705 STK32C Nonsynonymous SNV T261M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 221608 chr4 2632800 2632800 C T FAM193A Synonymous SNV G23G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.323 221609 chr4 2702085 2702090 AATAAC - rs759892380 FAM193A N1107_N1108del 0.001 0 0 0 1 0 0 0 0 0 0 0 221610 chr2 25358397 25358397 G A EFR3B Nonsynonymous SNV R423H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 221611 chr1 38171207 38171207 A T rs143404890 CDCA8 Nonsynonymous SNV I227F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 221612 chr13 103385601 103385601 C T rs112284262 CCDC168 Nonsynonymous SNV V5816I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 221613 chr2 28248161 28248161 A G rs755992683 BABAM2 Synonymous SNV Q123Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.755 221614 chr10 16992011 16992011 G A rs141640975 CUBN Nonsynonymous SNV A1690V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 221615 chr2 29293779 29293779 C T PCARE Nonsynonymous SNV G1117R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.307 221616 chr3 140407219 140407219 C T rs758407893 TRIM42 Synonymous SNV A565A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.555 221617 chr1 43011237 43011237 A G CCDC30 Nonsynonymous SNV T138A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 221618 chr12 48134472 48134472 G A rs377522593 RAPGEF3 Synonymous SNV P686P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.661 221619 chr12 48151704 48151704 G A rs749960218 RAPGEF3 Nonsynonymous SNV S13F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 221620 chr10 22615453 22615453 C T BMI1, COMMD3-BMI1 Synonymous SNV F25F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 221621 chr13 114115369 114115369 C A DCUN1D2 Nonsynonymous SNV M201I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.04 221622 chr10 25887330 25887330 G A rs778783228 GPR158 Synonymous SNV V925V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.509 221623 chr2 39285924 39285924 G A SOS1 Nonsynonymous SNV P79S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 221624 chr2 42281367 42281367 C T rs201925657 PKDCC Synonymous SNV A318A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 221625 chr3 157155519 157155519 T C rs866911626 PTX3 Synonymous SNV A116A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.185 221626 chr1 46976227 46976227 C T rs138324077 DMBX1 Synonymous SNV L83L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 221627 chr12 49442517 49442517 C T rs373063485 KMT2D Synonymous SNV E1352E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.7 221628 chr1 48240967 48240967 G T TRABD2B Nonsynonymous SNV H408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 221629 chr1 48713068 48713068 G A rs534802007 SLC5A9 Synonymous SNV P633P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 221630 chr2 44528224 44528224 G T rs567478582 SLC3A1 Nonsynonymous SNV R365L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 221631 chr4 26585873 26585873 A G rs777971778 TBC1D19 Nonsynonymous SNV K20E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 221632 chr1 54703768 54703768 G A rs3766448 SSBP3-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 0.898 221633 chr13 30077303 30077303 G A MTUS2 Nonsynonymous SNV G336E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 221634 chr1 55075005 55075005 C T rs200747808 FAM151A Nonsynonymous SNV R565Q 0 0 0.007 0 0 0 0 2 0 0 0 0 27 221635 chr13 31495970 31495970 T C rs148392910 MEDAG Synonymous SNV S258S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.5 221636 chr5 127654667 127654667 T C FBN2 Nonsynonymous SNV I1500V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 221637 chr2 55254511 55254511 A G RTN4 Nonsynonymous SNV S36P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 221638 chr5 1293767 1293767 G A rs34094720 TERT Nonsynonymous SNV H412Y 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 Benign/Likely benign 4.908 221639 chr10 44112550 44112550 G C rs141606024 ZNF485 Synonymous SNV P262P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 221640 chr1 234529469 234529469 C T rs372748386 TARBP1 Nonsynonymous SNV R1453H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 221641 chr1 235827339 235827339 C T rs774320068 LYST Nonsynonymous SNV D3738N 0 0 0 1 0 0 0.003 0 0 0 0 0 35 221642 chr13 41704659 41704659 A G rs41286993 KBTBD6 Synonymous SNV S663S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 221643 chr12 53167396 53167396 G A rs150732948 KRT76 Synonymous SNV A282A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 221644 chr1 6354954 6354954 C A ACOT7 Nonsynonymous SNV A267S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 221645 chr1 6531670 6531670 T G PLEKHG5 Nonsynonymous SNV I387L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 221646 chr13 52439891 52439891 G A rs61730661 CCDC70 Nonsynonymous SNV R115H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.257 221647 chr1 67266824 67266824 T A rs146856578 INSL5 Nonsynonymous SNV R27S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 221648 chr13 60545105 60545105 G T rs200018583 DIAPH3 Nonsynonymous SNV P351T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 25 221649 chr13 61103041 61103041 G T rs149598963 TDRD3 Nonsynonymous SNV G561V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.19 221650 chr13 61987765 61987765 C A rs112795881 PCDH20 Nonsynonymous SNV G156V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 221651 chr1 70300541 70300541 C T LRRC7 Synonymous SNV A194A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 221652 chr1 70385027 70385027 G C rs184822845 PIN1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.88 221653 chr13 77529631 77529631 G A rs746102899 ACOD1 Nonsynonymous SNV A148T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 221654 chr13 86370280 86370280 T C SLITRK6 Nonsynonymous SNV N122D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 221655 chr2 85770032 85770032 T C rs765480131 MAT2A Synonymous SNV Y320Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 221656 chr12 57605318 57605318 C T LRP1 Synonymous SNV H4380H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 221657 chr2 87017701 87017701 C A rs147048705 CD8A Synonymous SNV T51T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 16.9 221658 chr5 145246275 145246275 T C rs144587935 GRXCR2 Nonsynonymous SNV D118G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 221659 chr2 97465380 97465380 C G CNNM4 Nonsynonymous SNV P648R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.72 221660 chr2 99448835 99448835 G A KIAA1211L Synonymous SNV D172D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.699 221661 chr1 915495 915495 G A rs200050434 PERM1 Synonymous SNV S305S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.146 221662 chr8 25220640 25220640 G C DOCK5 Nonsynonymous SNV M1009I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 221663 chr12 67698938 67698938 C G rs1001454171 CAND1 Nonsynonymous SNV A497G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 221664 chr12 6936202 6936202 T C rs782275323 GPR162 Nonsynonymous SNV S250P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.26 221665 chr8 35608158 35608158 C T rs781317548 UNC5D Nonsynonymous SNV A660V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 221666 chr4 7780373 7780373 G A rs182091487 AFAP1-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.892 221667 chr10 88416016 88416016 G A rs370827317 OPN4 Synonymous SNV T83T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.96 221668 chr8 38258411 38258411 G A rs769707508 LETM2 Nonsynonymous SNV R227H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.62 221669 chr4 7802342 7802342 G A rs149214918 AFAP1 Nonsynonymous SNV R365C 0.006 0 0 0 7 0 0 0 0 0 0 0 34 221670 chr2 20101529 20101529 T G rs143714051 TTC32 Synonymous SNV A29A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.415 221671 chr5 156589871 156589871 A G rs201052186 FAM71B Nonsynonymous SNV S469P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 221672 chr20 17489584 17489584 G A rs372210205 BFSP1 Nonsynonymous SNV R104W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 221673 chr2 21236251 21236251 G C rs121918383 APOB Nonsynonymous SNV R1333G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.01 221674 chr4 8602885 8602885 G A rs570219062 CPZ Nonsynonymous SNV D42N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.5 221675 chr4 8869465 8869465 G C rs752877327 HMX1 Nonsynonymous SNV A334G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.7 221676 chr2 25383986 25383986 G A POMC Synonymous SNV N256N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.45 221677 chr8 6479161 6479161 A G rs45540031 MCPH1 Nonsynonymous SNV S708G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.274 221678 chr10 97096533 97096533 C T rs115113618 SORBS1 Synonymous SNV E1128E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 221679 chr14 23468156 23468156 C A rs751181693 C14orf93 Nonsynonymous SNV S26I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 221680 chr10 99228839 99228839 C T rs751925259 MMS19 Nonsynonymous SNV R273Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 221681 chr8 74893727 74893727 A G rs540563357 TMEM70 Synonymous SNV S218S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 2.931 221682 chr14 24572931 24572931 C T rs148751402 PCK2 Nonsynonymous SNV R427W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 221683 chr14 24654723 24654723 G A rs533823461 IPO4 Nonsynonymous SNV S407L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 221684 chr2 159107367 159107367 C A CCDC148 Nonsynonymous SNV A244S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 221685 chr4 38916543 38916543 T A FAM114A1 Nonsynonymous SNV M58K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 221686 chr20 31811747 31811747 C A rs148580329 BPIFA3 Nonsynonymous SNV H86Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 221687 chr20 32251471 32251476 GCGAGC - C20orf144 R89_E90del 0 0 0.003 0 0 0 0 1 0 0 0 0 221688 chr13 102030970 102030970 A G NALCN Nonsynonymous SNV V109A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 221689 chr4 148575196 148575196 C T rs778218066 PRMT9 Nonsynonymous SNV A313T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.58 221690 chr14 31585577 31585577 G A rs201841460 HECTD1 Nonsynonymous SNV T1828M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 221691 chr20 36992643 36992643 G A rs201924118 LBP Nonsynonymous SNV D223N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 221692 chr20 36993231 36993231 G T rs73909012 LBP Nonsynonymous SNV G249V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 221693 chr13 108861878 108861878 C T rs146616552 LIG4 Nonsynonymous SNV R580Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 33 221694 chr13 108882435 108882435 T C rs776285518 ABHD13 Nonsynonymous SNV L290S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 221695 chr20 3765655 3765655 G C rs149525468 CENPB Synonymous SNV A492A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.165 221696 chr13 110822974 110822974 G A rs761859503 COL4A1 Nonsynonymous SNV P1221L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.7 221697 chr14 39514402 39514402 T C rs767767591 SEC23A Nonsynonymous SNV I622V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 221698 chr2 44175318 44175318 A C rs762224854 LRPPRC Nonsynonymous SNV N621K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.7 221699 chr20 43379267 43379267 C G rs755306621 KCNK15 Nonsynonymous SNV P261A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 221700 chr2 45640374 45640374 C T rs3755073 SRBD1 Nonsynonymous SNV V798I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.426 221701 chr4 57462794 57462794 T C THEGL Synonymous SNV R368R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.539 221702 chr2 55040516 55040516 C T rs202211966 EML6 Synonymous SNV D115D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 221703 chr4 69968588 69968588 A G rs767539882 UGT2B7 Nonsynonymous SNV M312V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.23 221704 chr13 21371179 21371179 C T rs200601946 XPO4 Synonymous SNV Q780Q 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.72 221705 chr14 52734803 52734803 C G PTGDR Nonsynonymous SNV R91G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 221706 chr4 71527889 71527889 C A rs202199302 JCHAIN Nonsynonymous SNV K36N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.9 221707 chr5 37342737 37342737 C T rs376696300 NUP155 Nonsynonymous SNV R336H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 221708 chr2 71175515 71175515 A G ATP6V1B1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 9.788 221709 chr2 179751534 179751534 C T rs77071759 CCDC141 Nonsynonymous SNV R491H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.885 221710 chr2 182543318 182543318 C T rs750681358 NEUROD1 Synonymous SNV K90K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 221711 chr2 186667713 186667713 A G FSIP2 Synonymous SNV S4560S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 221712 chr14 64682980 64682980 G C rs140940287 SYNE2 Nonsynonymous SNV D107H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 29.9 221713 chr20 60928173 60928173 C T rs578173746 LAMA5-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.112 221714 chr20 61287968 61287968 C T rs534313379 SLCO4A1 Synonymous SNV T54T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.547 221715 chr20 61867717 61867717 G A rs139712930 BIRC7 Nonsynonymous SNV R90H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 221716 chr5 6449120 6449120 G C rs370058439 UBE2QL1 Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.755 221717 chr2 196825500 196825500 T C rs550370950 DNAH7 Nonsynonymous SNV N792S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 221718 chr2 197183519 197183519 C G HECW2 Nonsynonymous SNV E343Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.51 221719 chr2 97329202 97329202 C T rs1022939126 FER1L5 Synonymous SNV T366T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 221720 chr14 73491187 73491187 C T rs377064535 ZFYVE1 Synonymous SNV K10K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.17 221721 chr14 74874309 74874309 C T rs541607278 SYNDIG1L Nonsynonymous SNV V216M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.9 221722 chr11 119509485 119509485 G A rs73571271 NECTIN1 Nonsynonymous SNV P395S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 1.234 221723 chr4 115754831 115754831 G A rs140482377 NDST4 Nonsynonymous SNV A776V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 221724 chr2 207175898 207175898 C T rs183017282 ZDBF2 Nonsynonymous SNV R2216W 0 0.003 0 0 0 1 0 0 0 0 0 0 17.12 221725 chr5 78340149 78340149 C T rs139044238 DMGDH Stop gain W324X 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 41 221726 chr2 207564933 207564933 G T DYTN Nonsynonymous SNV T164N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 221727 chr4 122253981 122253981 T C QRFPR Nonsynonymous SNV I264M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 221728 chr13 96409977 96409977 G A rs144088123 DNAJC3 Nonsynonymous SNV R158H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 221729 chr2 109102165 109102165 A G rs376460288 GCC2 Synonymous SNV K1229K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.773 221730 chr13 97999282 97999282 G A rs201039654 MBNL2 Synonymous SNV A255A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.04 221731 chr14 78397983 78397983 C T rs149764524 ADCK1 Synonymous SNV A338A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 221732 chr21 34003858 34003858 C T rs112469776 SYNJ1 Nonsynonymous SNV R1343Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 221733 chr14 80164255 80164255 A C rs146615302 NRXN3 Nonsynonymous SNV K295T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.42 221734 chr2 210682603 210682603 C G rs182186415 UNC80 Synonymous SNV S540S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.97 221735 chr21 35467801 35467801 A T SLC5A3 Nonsynonymous SNV I102F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 221736 chr21 36081024 36081024 C T rs143782194 CLIC6 Nonsynonymous SNV P546L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.94 221737 chr4 140625183 140625183 C T rs147869298 MGST2 Stop gain R41X 0.006 0.005 0.003 0 7 2 0 1 0 0 0 0 37 221738 chr2 216946426 216946426 A T rs200308805 PECR Synonymous SNV P13P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 221739 chr2 219256102 219256102 G A rs141861983 SLC11A1 Nonsynonymous SNV V350M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.1 221740 chr21 41516425 41516425 G A rs369782957 DSCAM Synonymous SNV L1084L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.939 221741 chr21 43221520 43221520 C T rs200853879 PRDM15 Synonymous SNV T1139T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 221742 chr2 135630170 135630170 G C rs752419666 ACMSD Nonsynonymous SNV D212H 0 0 0 1 0 0 0.003 0 0 0 0 0 31 221743 chr2 220195496 220195496 G A rs1001675240 RESP18 Stop gain Q112X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 221744 chr4 155156635 155156635 C T rs373906914 DCHS2 Nonsynonymous SNV D3057N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.92 221745 chr14 95563036 95563036 C A rs1060503589 DICER1 Nonsynonymous SNV M1407I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.62 221746 chr6 105736734 105736734 T C PREP Synonymous SNV P451P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.981 221747 chr2 136873204 136873204 G A rs142289207 CXCR4 Synonymous SNV A102A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.93 221748 chr21 44324029 44324029 C T rs781367177 NDUFV3 Nonsynonymous SNV P303S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 221749 chr2 141986816 141986816 G T LRP1B Synonymous SNV I262I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.647 221750 chr15 100516323 100516323 G A rs980339405 ADAMTS17 Synonymous SNV A1018A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.207 221751 chr21 45741650 45741650 G A rs377612487 PFKL Synonymous SNV P410P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.716 221752 chr21 45846569 45846569 C G rs748258859 TRPM2 Synonymous SNV P1274P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.261 221753 chr5 72419734 72419734 C T rs904428726 TMEM171 Synonymous SNV F178F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.27 221754 chr2 228881267 228881267 G T rs139756256 SPHKAP Nonsynonymous SNV Q1435K 0 0.003 0 0 0 1 0 0 0 0 0 0 32 221755 chr4 183714507 183714507 C T rs184165622 TENM3 Nonsynonymous SNV R2228C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 23.3 221756 chr2 166223800 166223800 G A rs140194137 SCN2A Synonymous SNV R1198R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 8.839 221757 chr2 232790904 232790904 C G rs981888754 NPPC Nonsynonymous SNV R19P 0 0.003 0 0 0 1 0 0 0 0 0 0 32 221758 chr2 167056139 167056139 T C rs764559105 SCN9A Synonymous SNV K1670K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.025 221759 chr21 47848429 47848429 C T PCNT Synonymous SNV L2421L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.41 221760 chr2 233633115 233633115 G A rs17853727 KCNJ13 Nonsynonymous SNV P210L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 221761 chr15 34105698 34105698 G A rs201678035 RYR3 Nonsynonymous SNV V3469I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.8 221762 chr22 18022418 18022418 G C CECR2 Nonsynonymous SNV L699F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 221763 chr11 19258880 19258880 G A rs562384299 E2F8 Synonymous SNV D144D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.905 221764 chr15 40564598 40564598 C A BUB1B-PAK6, PAK6 Synonymous SNV G344G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.07 221765 chr1 1147325 1147325 C T rs757565777 TNFRSF4 Nonsynonymous SNV G211R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.004 221766 chr22 20100657 20100657 T G TRMT2A Synonymous SNV P511P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.365 221767 chr15 42143102 42143102 G A rs201539060 SPTBN5 Nonsynonymous SNV P3624L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 221768 chr22 22906225 22906225 A G rs546481111 LL22NC03-63E9.3 0 0 0.003 0 0 0 0 1 0 0 0 0 4.479 221769 chr22 23237697 23237697 C T rs148650930 IGLL5 Synonymous SNV P81P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 221770 chr22 24237364 24237364 G A MIF-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.972 221771 chr22 24562726 24562726 C G rs752558457 CABIN1 Synonymous SNV P1659P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.817 221772 chr2 242149906 242149906 G A rs138190598 ANO7 Synonymous SNV T494T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.724 221773 chr2 179576855 179576855 A G rs143368674 TTN Synonymous SNV I7990I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.589 221774 chr5 14713134 14713134 C - rs750098379 LOC100130744 0.003 0.003 0 0 4 1 0 0 0 0 0 0 221775 chr5 31299727 31299727 G A rs199901263 CDH6 Nonsynonymous SNV R267Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 221776 chr22 28378458 28378458 T C rs201938772 TTC28 Synonymous SNV P2399P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.054 221777 chr22 29706502 29706502 G A rs931687305 GAS2L1 Nonsynonymous SNV R236H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 221778 chr15 44751350 44751350 C T rs78868451 CTDSPL2 Synonymous SNV T46T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.59 221779 chr15 44890903 44890903 T C rs76389165 SPG11 Nonsynonymous SNV K1273R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.3 221780 chr5 34811211 34811211 A G rs776511092 RAI14 Nonsynonymous SNV N174S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 221781 chr15 44962224 44962224 C T rs146795158 PATL2 Nonsynonymous SNV R51Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.31 221782 chr2 182780313 182780313 G A rs375748293 ITPRID2 Nonsynonymous SNV S496N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 221783 chr3 9793553 9793553 T A OGG1 Nonsynonymous SNV L162Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 221784 chr15 45386398 45386398 C T rs748789760 DUOX2 Nonsynonymous SNV V1533I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.06 221785 chr6 152809540 152809540 A G rs144105769 SYNE1 Synonymous SNV D353D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.286 221786 chr9 74329979 74329979 C G rs780396951 CEMIP2 Nonsynonymous SNV G758A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 221787 chr15 50534613 50534613 C A rs771267720 HDC Nonsynonymous SNV R578S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.63 221788 chr14 57942356 57942356 C T rs10138077 CCDC198 Nonsynonymous SNV R240H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.702 221789 chr3 12854762 12854762 G T CAND2 Nonsynonymous SNV G201V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.21 221790 chr5 132736615 132736615 C T rs368837848 FSTL4 Nonsynonymous SNV R75Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 221791 chr15 54003651 54003651 G A rs779467417 WDR72 Synonymous SNV L247L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.285 221792 chr22 38321826 38321826 G A MICALL1 Nonsynonymous SNV S414N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 221793 chr2 200824505 200824505 C T rs150048783 MAIP1 Nonsynonymous SNV T184I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 221794 chr22 43529330 43529330 A G rs763478346 MCAT Nonsynonymous SNV Y298H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 221795 chr15 62967462 62967462 A G rs747569276 TLN2 Nonsynonymous SNV K300R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 221796 chr22 46704832 46704832 G A GTSE1 Nonsynonymous SNV A252T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 221797 chr22 46724762 46724762 G A rs75159461 GTSE1 Synonymous SNV P634P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.172 221798 chr3 38401858 38401858 G C rs148604148 XYLB Nonsynonymous SNV D57H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.8 221799 chr22 46782320 46782320 C T rs994541383 CELSR1 Nonsynonymous SNV V2240I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 221800 chr22 46794443 46794443 C T rs375057747 CELSR1 Nonsynonymous SNV R1835H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.6 221801 chr14 74947404 74947404 C T rs140130028 NPC2, NPC2 Nonsynonymous SNV V148I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.178 221802 chr22 50636900 50636900 C T rs146656338 TRABD Synonymous SNV P365P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.4 221803 chr15 69733319 69733319 C T rs760870759 KIF23 Synonymous SNV I650I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.04 221804 chr15 75968121 75968121 G A rs777249049 CSPG4 Stop gain R2247X 0 0.003 0 0 0 1 0 0 0 0 0 0 45 221805 chr14 81743862 81743862 C T rs146858490 STON2 Nonsynonymous SNV R598Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 221806 chr3 46718503 46718503 G A rs375239761 ALS2CL Synonymous SNV G589G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.52 221807 chr2 112942823 112942823 C T FBLN7 Nonsynonymous SNV T239I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 221808 chr14 92471653 92471653 A G rs140106241 TRIP11 Synonymous SNV D888D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.002 221809 chr3 46775730 46775730 G C rs958263547 PRSS46P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 221810 chr3 47618517 47618517 G T rs199594550 CSPG5 Synonymous SNV P195P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.19 221811 chr14 94524212 94524212 G A rs776320527 DDX24 Nonsynonymous SNV R649W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 221812 chr2 231948363 231948363 A C rs745552908 PSMD1 Synonymous SNV A536A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.4 221813 chr2 232324980 232324980 T C rs141369545 NCL Nonsynonymous SNV N308S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 221814 chr15 86189136 86189136 A T rs750869364 AKAP13 Nonsynonymous SNV D82V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 221815 chr2 233322526 233322526 C T rs750269899 ALPI Nonsynonymous SNV R269C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 221816 chr2 122038774 122038774 G C TFCP2L1 Nonsynonymous SNV P46A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 221817 chr3 49831368 49831368 G A rs570035138 CDHR4 Nonsynonymous SNV R451W 0 0.003 0 0 0 1 0 0 0 0 0 0 12.21 221818 chr3 50106155 50106155 G A rs139899591 RBM6 Synonymous SNV Q470Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.975 221819 chr15 89758454 89758454 C T rs139108078 RLBP1 Nonsynonymous SNV R121Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 221820 chr2 239002507 239002507 G A rs938656338 SCLY Synonymous SNV A309A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.57 221821 chr2 239002547 239002547 A G SCLY Nonsynonymous SNV M323V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 221822 chr2 152404243 152404243 G A rs765006379 NEB Nonsynonymous SNV R5022W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 221823 chr15 31775833 31775833 G A OTUD7A Synonymous SNV A815A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.032 221824 chr1 976196 976196 C T rs955700514 AGRN Synonymous SNV C221C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.62 221825 chr15 34118894 34118894 A G rs754898611 RYR3 Nonsynonymous SNV D3724G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 221826 chr1 985641 985641 C T rs773269271 AGRN Synonymous SNV F1636F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.9 221827 chr3 56658614 56658614 G A rs145666615 TASOR Nonsynonymous SNV A1022V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.682 221828 chr2 162361808 162361808 G A rs145260432 AHCTF1P1 0 0 0.017 0 0 0 0 5 0 0 0 0 7.25 221829 chr6 7373989 7373989 T G rs199880823 CAGE1 Nonsynonymous SNV N219H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.03 221830 chr2 168101223 168101223 T C XIRP2 Synonymous SNV Y885Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 221831 chr15 41280155 41280155 G A rs574207476 INO80 Synonymous SNV S1196S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 221832 chr6 53778655 53778655 G A LRRC1 Nonsynonymous SNV G332S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 221833 chr16 14693761 14693761 C T rs200026431 PARN Synonymous SNV S234S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.05 221834 chr3 2942386 2942386 - A CNTN4 Frameshift insertion I322Nfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 221835 chr6 16328402 16328402 G A rs775100540 ATXN1 Nonsynonymous SNV P47L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 221836 chr15 42120372 42120372 C T rs139694386 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.7 221837 chr15 42140017 42140017 C T rs150600168 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV R769C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 221838 chr2 171634183 171634183 A G ERICH2 Nonsynonymous SNV M206V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 221839 chr6 24358002 24358002 G A rs199686905 KAAG1 Synonymous SNV Q45Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.723 221840 chr3 9426299 9426299 G A rs577863688 THUMPD3 Nonsynonymous SNV R484H 0 0 0 1 0 0 0.003 0 0 0 0 0 29 221841 chr15 42363694 42363694 G A PLA2G4D Synonymous SNV T543T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 221842 chr3 100105652 100105652 C T rs771750898 TOMM70 Synonymous SNV Q165Q 0 0.005 0 0 0 2 0 0 0 0 0 0 11.03 221843 chr16 17221665 17221665 C T rs201045664 XYLT1 Nonsynonymous SNV R694H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 221844 chr2 177054120 177054120 C T rs375477049 HOXD1 Synonymous SNV G197G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 221845 chr15 42635320 42635320 A G GANC Nonsynonymous SNV T733A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 221846 chr3 10119870 10119870 C G rs200568638 FANCD2 Nonsynonymous SNV P989A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 15 221847 chr15 42984179 42984179 C G rs111336295 STARD9 Nonsynonymous SNV P3468R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 21.7 221848 chr6 74183276 74183276 C G MTO1 Nonsynonymous SNV R242G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 221849 chr15 43827421 43827421 G A rs374951074 PPIP5K1 Synonymous SNV Y1184Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.355 221850 chr15 49036534 49036534 C A rs942704966 CEP152 Nonsynonymous SNV L1190F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 221851 chr3 19479731 19479731 G A rs138531032 KCNH8 Nonsynonymous SNV R418Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 221852 chr15 51285734 51285734 T C rs757157711 AP4E1 Nonsynonymous SNV V678A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.465 221853 chr2 190541480 190541480 C T rs756069708 ANKAR Synonymous SNV P88P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.677 221854 chr2 192011485 192011485 - A rs778032891 STAT4 0 0 0.003 0 0 0 0 1 0 0 0 0 221855 chr16 2522536 2522536 T C rs148996457 NTN3 Synonymous SNV H278H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 221856 chr2 197870515 197870515 C T rs761805487 ANKRD44 Synonymous SNV T750T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 221857 chr5 156770014 156770014 C T rs141743285 FNDC9 Synonymous SNV G177G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.89 221858 chr2 203417539 203417539 T C rs746676365 BMPR2 Nonsynonymous SNV M505T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.35 221859 chr15 58860942 58860942 T A LIPC Nonsynonymous SNV D472E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 221860 chr3 39230193 39230193 G A rs150253646 XIRP1 Synonymous SNV G248G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.376 221861 chr2 207173980 207173980 C T rs553699225 ZDBF2 Synonymous SNV D1576D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 221862 chr2 207564891 207564891 G A rs199745795 DYTN Nonsynonymous SNV A178V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 221863 chr6 39507914 39507914 T C KIF6 Nonsynonymous SNV R504G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.338 221864 chr15 64446158 64446158 C G rs138774724 SNX22 Synonymous SNV V139V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.7 221865 chr2 21246444 21246444 C T rs756624101 APOB Nonsynonymous SNV V853I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.7 221866 chr16 3486855 3486855 T C rs139653010 ZNF597 Nonsynonymous SNV N282D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.019 221867 chr1 20305016 20305016 G A rs12721465 PLA2G2A Synonymous SNV G14G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.226 221868 chr15 66795774 66795774 G T rs747898742 RPL4 Synonymous SNV R33R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 221869 chr6 44218883 44218883 C T rs140435635 HSP90AB1 Synonymous SNV N352N 0.001 0 0 0 1 0 0 0 0 0 0 0 15 221870 chr2 219508077 219508077 G A rs188997501 ZNF142 Synonymous SNV G1054G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.162 221871 chr16 48594916 48594916 T C rs34545922 N4BP1 Synonymous SNV L546L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.123 221872 chr3 49293845 49293845 A G rs75642581 CCDC36 Synonymous SNV A305A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.22 221873 chr3 151090520 151090520 A G rs775657657 MED12L Nonsynonymous SNV Y1242C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 221874 chr3 49690620 49690620 C T rs74603066 BSN Nonsynonymous SNV P1211S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.15 221875 chr16 54953019 54953019 T C rs1022142130 CRNDE Nonsynonymous SNV I79V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.808 221876 chr3 49758063 49758063 G A rs77599182 RNF123 Nonsynonymous SNV R1207Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 221877 chr1 24861748 24861748 C A rs16829813 RCAN3 Nonsynonymous SNV T226N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.28 221878 chr6 56966054 56966054 G A rs200941400 ZNF451 Synonymous SNV A280A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.36 221879 chr6 62390889 62390889 T G KHDRBS2 Nonsynonymous SNV E343D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.139 221880 chr1 26515944 26515944 G A CNKSR1 Nonsynonymous SNV E690K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 17.73 221881 chr3 50390964 50390964 C G rs372588953 CYB561D2 Nonsynonymous SNV A153G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 221882 chr3 52004103 52004103 G C rs565123236 ABHD14B Synonymous SNV G65G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.335 221883 chr11 66613545 66613545 A G rs754837142 RCE1 Synonymous SNV S219S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.248 221884 chr3 167184888 167184888 C A rs61750374 SERPINI2 Nonsynonymous SNV A145S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 221885 chr3 52521911 52521911 C G NISCH Nonsynonymous SNV H801Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 221886 chr3 52526093 52526093 C G NISCH Synonymous SNV P1370P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.581 221887 chr11 67163284 67163286 GAG - rs781683381 RAD9A E109del 0.001 0 0 0 1 0 0 0 0 0 0 0 221888 chr1 226564855 226564855 G A rs138228205 PARP1 Nonsynonymous SNV T632M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 221889 chr3 173993235 173993235 A G rs752588357 NLGN1 Synonymous SNV G259G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.213 221890 chr3 173996826 173996826 - GAT NLGN1 D346_I347insD 0 0.003 0 0 0 1 0 0 0 0 0 0 221891 chr16 67440233 67440233 C T rs142114755 ZDHHC1 Nonsynonymous SNV R41Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 221892 chr1 228412281 228412281 G C OBSCN Nonsynonymous SNV K925N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 221893 chr16 67859894 67859894 G A rs145012456 TSNAXIP1 Synonymous SNV T7T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.527 221894 chr6 26452219 26452219 C T rs143460142 BTN3A3 Synonymous SNV L235L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.127 221895 chr1 33245823 33245823 T C rs768603403 YARS1 Synonymous SNV P399P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.14 221896 chr3 182554130 182554130 G A rs768074491 ATP11B Nonsynonymous SNV V142M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 221897 chr1 38185714 38185714 G A rs201339817 EPHA10 Nonsynonymous SNV A810V 0.001 0 0 2 1 0 0.005 0 0 0 0 1 22.1 221898 chr3 184045397 184045397 C G rs35629949 EIF4G1 Nonsynonymous SNV P1034A 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 Likely benign 0.39 221899 chr6 97717813 97717813 A C rs760395043 MMS22L Nonsynonymous SNV V221G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 221900 chr3 88188525 88188525 A C rs759352641 ZNF654 Nonsynonymous SNV K456T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 221901 chr3 89457258 89457258 G T rs779282250 EPHA3 Nonsynonymous SNV R580I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 221902 chr3 185970960 185970960 A G rs200584591 DGKG Nonsynonymous SNV F483L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 221903 chr11 72410054 72410054 G C rs993049774 ARAP1 Nonsynonymous SNV A540G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 221904 chr2 239162062 239162062 G T rs142728794 PER2 Nonsynonymous SNV P868T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 221905 chr1 232619633 232619633 G A rs780220404 SIPA1L2 Nonsynonymous SNV T629M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 221906 chr1 45190837 45190837 A T rs374716973 ARMH1 Synonymous SNV I386I 0 0 0 2 0 0 0.005 0 0 0 0 1 0.7 221907 chr2 242274567 242274567 C T rs200963363 SEPTIN2 Nonsynonymous SNV L13F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 221908 chr2 242357397 242357397 C T rs776097072 FARP2 Nonsynonymous SNV S215L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 221909 chr16 75513426 75513426 G A rs373160858 CHST6 Synonymous SNV L101L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 5.128 221910 chr2 242435908 242435908 C T rs781489939 STK25 Synonymous SNV A382A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.095 221911 chr2 242659475 242659475 G A rs773781096 ING5 Nonsynonymous SNV A235T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.502 221912 chr3 109023515 109023515 C T rs199811743 DPPA2 Nonsynonymous SNV V221I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.199 221913 chr16 774417 774417 G T rs781751298 CCDC78 Synonymous SNV R286R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 221914 chr16 774418 774418 C T rs750889592 CCDC78 Nonsynonymous SNV R286H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.84 221915 chr3 111846894 111846894 T C GCSAM Nonsynonymous SNV H40R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.137 221916 chr2 25062875 25062875 C T rs201606553 ADCY3 Nonsynonymous SNV G408R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 24.3 221917 chr6 42851258 42851258 C T rs141495140 RPL7L1 Nonsynonymous SNV R73C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 221918 chr6 42946401 42946401 C G rs778791031 PEX6 Nonsynonymous SNV R163P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24.5 221919 chr16 81934301 81934301 C T rs199514190 PLCG2 Synonymous SNV G426G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 10.7 221920 chr2 27447243 27447243 C A rs146282777 CAD Nonsynonymous SNV P380H 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 15.02 221921 chr6 43172753 43172753 C T CUL9 Nonsynonymous SNV A1511V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 221922 chr4 961375 961375 C G rs149805008 DGKQ Nonsynonymous SNV V317L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.84 221923 chr6 138550984 138550984 G A rs546221674 ARFGEF3 Nonsynonymous SNV A139T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 221924 chr4 1343343 1343343 C T rs574965437 UVSSA Nonsynonymous SNV R44C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 221925 chr2 36704089 36704089 G A rs142409995 CRIM1 Nonsynonymous SNV R350Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 33 221926 chr6 145124268 145124268 G A rs150893596 UTRN Synonymous SNV V3114V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13 221927 chr16 21969885 21969885 A G UQCRC2 Nonsynonymous SNV I99M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 221928 chr6 146993492 146993492 G A rs765809521 ADGB Nonsynonymous SNV E326K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.575 221929 chr2 43986117 43986117 G A rs372567963 PLEKHH2 Synonymous SNV L1340L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 221930 chr2 47136226 47136226 G A rs927338670 MCFD2 Nonsynonymous SNV P29S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 221931 chr2 47205973 47205973 C T rs1006086423 TTC7A Nonsynonymous SNV P231S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.093 221932 chr7 150324840 150324840 G A rs991336103 GIMAP6 Synonymous SNV A352A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.264 221933 chr12 101876668 101876668 G T rs140414335 SPIC Nonsynonymous SNV K103N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.76 221934 chr1 84369766 84369766 C T TTLL7 Nonsynonymous SNV R708Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 221935 chr4 8233712 8233712 G A rs201278229 SH3TC1 Nonsynonymous SNV R911Q 0 0.005 0 0 0 2 0 0 0 0 0 0 0.804 221936 chr3 130287048 130287048 C T rs142295956 COL6A6 Synonymous SNV S667S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.78 221937 chr2 65298791 65298791 A T rs754674684 CEP68 Synonymous SNV P187P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.009 221938 chr12 105440681 105440681 G A rs201153831 ALDH1L2 Nonsynonymous SNV L585F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 221939 chr3 131388531 131388531 G A rs767721047 CPNE4 Synonymous SNV D241D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 221940 chr16 3096973 3096973 G T MMP25 Nonsynonymous SNV A19S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 221941 chr2 68694913 68694913 C - rs768568802 APLF L18Wfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 221942 chr3 134084712 134084712 G A rs201675048 AMOTL2 Nonsynonymous SNV T467I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 221943 chr3 135870104 135870104 C T rs137871177 MSL2 Nonsynonymous SNV S466N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 221944 chr2 71651028 71651028 A G ZNF638 Nonsynonymous SNV S1462G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 221945 chr7 2188801 2188801 G A rs373626729 MAD1L1 Synonymous SNV S261S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.19 221946 chr1 31532290 31532290 T C PUM1 Nonsynonymous SNV T42A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.661 221947 chr12 110383087 110383087 G A rs370041129 GIT2 Nonsynonymous SNV S519L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 221948 chr3 141161740 141161740 C T ZBTB38 Synonymous SNV I170I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.09 221949 chr3 142048334 142048334 C T rs764876316 XRN1 Nonsynonymous SNV R1449Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 221950 chr12 110719688 110719688 C T rs141335001 ATP2A2 Nonsynonymous SNV L32F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 17.49 221951 chr3 142985691 142985691 T A rs779254668 SLC9A9 Synonymous SNV S597S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.661 221952 chr4 37846013 37846013 T C rs748290214 PGM2 Nonsynonymous SNV F250L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 221953 chr3 150280431 150280431 G A rs932775520 EIF2A Synonymous SNV T67T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.76 221954 chr17 18150108 18150108 T C rs752614270 FLII Nonsynonymous SNV K896E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 221955 chr17 18167743 18167743 G A rs768648670 MIEF2 Nonsynonymous SNV A344T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.46 221956 chr4 39271711 39271711 A G rs760312911 WDR19 Nonsynonymous SNV I998M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.371 221957 chr12 113704131 113704131 C T rs148025830 TPCN1 Synonymous SNV P60P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.57 221958 chr16 5056031 5056031 C T rs750265372 SEC14L5 Synonymous SNV F473F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.79 221959 chr12 117287186 117287186 C T rs367645340 RNFT2 Nonsynonymous SNV S423L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 221960 chr1 40363246 40363246 C T MYCL Nonsynonymous SNV R298H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 221961 chr2 97530475 97530475 T G rs372109047 SEMA4C Nonsynonymous SNV N310T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 221962 chr1 112999551 112999551 A G rs113335893 CTTNBP2NL Synonymous SNV L479L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 221963 chr3 172351399 172351399 C T rs144734082 NCEH1 Nonsynonymous SNV G232S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 221964 chr12 120660481 120660481 G A rs774459577 PXN Nonsynonymous SNV P189L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.869 221965 chr1 115268924 115268924 G A rs142956651 CSDE1 Synonymous SNV S485S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.739 221966 chr3 101371646 101371646 G A ZBTB11 Nonsynonymous SNV H816Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 221967 chr17 2186007 2186007 G A rs753632487 SMG6 Synonymous SNV S865S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.772 221968 chr1 119576778 119576778 G A WARS2 Synonymous SNV L192L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.231 221969 chr17 25630547 25630547 A G WSB1 Nonsynonymous SNV K122E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 221970 chr7 6194419 6194419 C T rs749704861 USP42 Synonymous SNV H1078H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.614 221971 chr3 183883254 183883254 C T rs146995023 DVL3 Synonymous SNV N246N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Likely benign 12.37 221972 chr1 145498647 145498647 C T LIX1L Synonymous SNV L295L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.217 221973 chr17 26939682 26939682 T G rs140758826 RSKR Synonymous SNV V167V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 221974 chr4 71670078 71670078 T G rs964291145 RUFY3 Nonsynonymous SNV L555R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.162 221975 chr4 73927597 73927597 G A rs200382047 COX18 Nonsynonymous SNV T257M 0 0.003 0 0 0 1 0 0 0 0 0 0 5.985 221976 chr4 73935410 73935410 G A rs572854905 COX18 Synonymous SNV L23L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.927 221977 chr3 113323617 113323617 A G rs73854501 SIDT1 Nonsynonymous SNV K12R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.629 221978 chr3 113323764 113323764 A G SIDT1 Nonsynonymous SNV I387V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.112 221979 chr3 186968068 186968068 G A rs757719298 MASP1 Nonsynonymous SNV T354M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 221980 chr3 113866382 113866382 C T rs145218071 DRD3 Nonsynonymous SNV V136I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 221981 chr1 152327412 152327412 T C FLG2 Synonymous SNV Q950Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 221982 chr6 146264817 146264817 T A SHPRH Nonsynonymous SNV Y567F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.509 221983 chr12 129190264 129190264 G A rs557288550 TMEM132C Synonymous SNV P917P 0.004 0 0 0 5 0 0 0 0 0 0 0 0.098 221984 chr4 87724961 87724961 G A rs763507387 PTPN13 Nonsynonymous SNV R2011Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 221985 chr16 71674507 71674507 C T rs199750986 MARVELD3 Synonymous SNV G270G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.455 221986 chr1 154901561 154901561 C T rs766663470 PMVK Nonsynonymous SNV R70H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 221987 chr16 72139175 72139175 C T rs148217836 DHX38 Synonymous SNV N769N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.223 221988 chr3 122835124 122835124 G A rs147887401 PDIA5 Synonymous SNV A196A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 221989 chr1 59042034 59042034 G A rs201501593 TACSTD2 Synonymous SNV P265P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 6.171 221990 chr17 37876070 37876070 C T rs56110910 ERBB2 Synonymous SNV P643P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.93 221991 chr4 100052818 100052818 C A rs142365973 ADH4 Nonsynonymous SNV G227V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.74 221992 chr7 6692133 6692133 C A rs1038859743 ZNF316 Synonymous SNV G302G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.671 221993 chr12 14959270 14959270 C T SMCO3 Synonymous SNV K115K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 221994 chr16 787255 787255 G A rs144257047 CIAO3 Synonymous SNV T79T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.035 221995 chr4 2252831 2252831 G A rs36024893 MXD4 Nonsynonymous SNV S151F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 221996 chr4 2744141 2744141 C T TNIP2 Nonsynonymous SNV G295E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.43 221997 chr7 45003662 45003662 C T rs376350486 MYO1G Nonsynonymous SNV V911M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 221998 chr4 3137967 3137967 A G rs1054534020 HTT Synonymous SNV Q904Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.951 221999 chr3 132278757 132278757 C A rs764015856 ACAD11 Synonymous SNV R716R 0 0 0.007 0 0 0 0 2 0 0 0 0 18.01 222000 chr17 3955340 3955340 C T rs147734356 ZZEF1 Nonsynonymous SNV R1842Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 222001 chr7 45928476 45928476 T G rs768581187 IGFBP1 Synonymous SNV T75T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.417 222002 chr16 84520395 84520395 C T rs572528553 MEAK7 Nonsynonymous SNV C267Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 222003 chr12 300257 300257 C G SLC6A12 Nonsynonymous SNV G608R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 222004 chr7 901070 901070 C G rs774347766 SUN1 Synonymous SNV T508T 0 0 0 2 0 0 0.005 0 0 0 0 0 15.87 222005 chr4 5758046 5758046 A G rs202068809 EVC Nonsynonymous SNV E507G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 222006 chr4 147560457 147560457 - GGCGGCGGCGGCGGC POU4F2 G68_R69insGGGGG 0 0.003 0 0 0 1 0 0 0 0 0 0 222007 chr3 145789101 145789101 G C rs967744523 PLOD2 Nonsynonymous SNV P632R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 222008 chr3 149238629 149238629 G A WWTR1 Nonsynonymous SNV A389V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 222009 chr3 152058546 152058546 C G TMEM14EP 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 222010 chr16 88871951 88871951 C T rs140700251 CDT1 Nonsynonymous SNV R198C 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 28.1 222011 chr7 70880998 70880998 C G rs150157389 GALNT17 Nonsynonymous SNV T238S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 222012 chr8 107763046 107763046 G A rs186196779 OXR1 Synonymous SNV A176A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.911 222013 chr7 18674346 18674346 C T rs765515793 HDAC9 Nonsynonymous SNV P218L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 222014 chr12 49689404 49689404 G T rs58599399 PRPH Nonsynonymous SNV D141Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 222015 chr7 81589047 81589047 G T rs747500641 CACNA2D1 Nonsynonymous SNV A1022E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.1 222016 chr4 183720841 183720841 - CA TENM3 Frameshift insertion A2480Qfs*17 0 0.003 0 0 0 1 0 0 0 0 0 0 222017 chr12 52779006 52779006 A C rs144471272 KRT84 Nonsynonymous SNV F122V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 222018 chr3 183952420 183952420 G A VWA5B2 Synonymous SNV E55E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 222019 chr4 56865572 56865572 A G rs370414021 CEP135 Nonsynonymous SNV E705G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26 222020 chr12 52985382 52985382 C T rs548680308 KRT72 Nonsynonymous SNV D277N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 222021 chr17 18029748 18029748 C T rs757155918 MYO15A Nonsynonymous SNV R1282W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 222022 chr17 18052553 18052553 C T rs752127859 MYO15A Nonsynonymous SNV S2327L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 222023 chr7 34009959 34009959 T G rs776080389 BMPER Nonsynonymous SNV S141A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.03 222024 chr17 18159877 18159877 G A rs143532166 FLII Nonsynonymous SNV T59M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 222025 chr1 198719713 198719713 C G PTPRC Synonymous SNV V894V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.174 222026 chr8 134125846 134125846 C T rs114211101 TG Nonsynonymous SNV R2585W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 222027 chr3 190936676 190936678 AAG - OSTN R82del 0 0 0.003 0 0 0 0 1 0 0 0 0 222028 chr17 56293449 56293449 C T rs386834048 MKS1 Synonymous SNV E129E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.47 222029 chr5 1878813 1878813 G C IRX4 Nonsynonymous SNV P277R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.189 222030 chr3 195487940 195487940 G A MUC4 Nonsynonymous SNV P601L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 222031 chr5 2749561 2749561 G T rs746792418 IRX2 Nonsynonymous SNV T197N 0 0.005 0 0 0 2 0 0 0 0 0 0 0.026 222032 chr7 44116146 44116146 C T rs145510131 POLM Nonsynonymous SNV R266Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.76 222033 chr12 53856303 53856303 G T PCBP2 Synonymous SNV P177P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 222034 chr20 2320521 2320521 C T rs370607077 TGM3 Nonsynonymous SNV R608W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 222035 chr1 202863340 202863340 A G rs754379195 KLHL12 Synonymous SNV N354N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.823 222036 chr17 59477631 59477631 G T TBX2 Nonsynonymous SNV A32S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 222037 chr3 197807241 197807241 G C rs13062943 ANKRD18DP 0 0 0.01 0 0 0 0 3 0 0 0 0 9.945 222038 chr17 60799941 60799941 C T rs142879393 MARCHF10 Nonsynonymous SNV V708M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 222039 chr3 26751294 26751294 G T rs760414274 LRRC3B Nonsynonymous SNV G44V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 222040 chr4 81967532 81967532 G A rs61729827 BMP3 Synonymous SNV K319K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.979 222041 chr4 83838151 83838151 T C THAP9 Synonymous SNV F262F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 222042 chr12 57704171 57704171 A C R3HDM2 Nonsynonymous SNV M14R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 222043 chr12 57861998 57861998 G C GLI1 Nonsynonymous SNV E305D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 222044 chr3 38307447 38307447 - C rs762275571 SLC22A13 Frameshift insertion F34Lfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 222045 chr5 35800103 35800103 G T rs780151543 SPEF2 Nonsynonymous SNV D1622Y 0 0.003 0 0 0 1 0 0 0 0 0 0 18.03 222046 chr5 38407198 38407198 G A rs778262639 EGFLAM Nonsynonymous SNV G132D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 222047 chr17 66551763 66551763 G C rs149777674 FAM20A Nonsynonymous SNV R176G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.7 222048 chr5 52778812 52778812 C A FST Nonsynonymous SNV T63N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 222049 chr1 216172296 216172296 G A rs140487302 USH2A Nonsynonymous SNV T2197I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.3 222050 chr17 6908625 6908625 G A rs147158964 ALOX12 Nonsynonymous SNV R404Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 34 222051 chr17 33586321 33586321 G A rs144937987 SLFN5 Synonymous SNV V204V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.983 222052 chr12 66826340 66826340 T G rs189438534 GRIP1 Nonsynonymous SNV I534L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 222053 chr12 66935708 66935708 G A rs368888815 GRIP1 Synonymous SNV V53V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.115 222054 chr17 71204547 71204547 C G rs147588256 COG1 Nonsynonymous SNV P967R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24 222055 chr17 33879959 33879959 C T SLFN14 Nonsynonymous SNV C565Y 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 222056 chr3 44952769 44952770 AC - rs764241678 TGM4 T596Rfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 222057 chr3 45637445 45637445 C T rs200730316 LIMD1 Synonymous SNV D358D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 222058 chr17 7226379 7226379 C T rs567332480 NEURL4 Synonymous SNV A827A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.56 222059 chr3 46718422 46718422 C T rs750553394 ALS2CL Synonymous SNV R616R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.1 222060 chr3 46852930 46852930 T C rs150303924 PRSS44P 0 0 0.014 0 0 0 0 4 0 0 0 0 11.5 222061 chr17 72588701 72588701 G T rs774561890 C17orf77 Nonsynonymous SNV E172D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.28 222062 chr3 47889377 47889377 A G rs762492028 DHX30 Synonymous SNV T739T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 222063 chr3 49067893 49067893 T C rs762397838 QRICH1 Nonsynonymous SNV M775V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.425 222064 chr3 49463320 49463320 G T NICN1 Nonsynonymous SNV P140Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 222065 chr17 73751284 73751284 C T rs759866578 ITGB4 Synonymous SNV S1499S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.42 222066 chr17 73831594 73831594 G A rs75853379 UNC13D Synonymous SNV L582L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 10.05 222067 chr4 141464620 141464620 A G ELMOD2 Nonsynonymous SNV I206V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 222068 chr1 228559442 228559442 C - rs71180793 OBSCN S6990Pfs*82 0 0 0 2 0 0 0.005 0 0 0 0 0 222069 chr4 147110803 147110803 A T rs141653390 LSM6 Nonsynonymous SNV M80L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 222070 chr17 74155492 74155492 C T rs111326194 RNF157 Nonsynonymous SNV V410I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.36 222071 chr3 53126512 53126512 G A rs147740901 RFT1 Nonsynonymous SNV T444M 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Uncertain significance 22.7 222072 chr5 82940472 82940472 G A rs751629321 HAPLN1 Nonsynonymous SNV P162L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 222073 chr17 74684196 74684196 G A rs142545326 MXRA7 Synonymous SNV D178D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.18 222074 chr20 5904229 5904229 C T CHGB Nonsynonymous SNV P480L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.012 222075 chr12 97158939 97158939 A G CFAP54 Nonsynonymous SNV N2742D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 222076 chr20 60775849 60775852 TCTC - MTG2 Q314Lfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 222077 chr1 242052846 242052846 G T rs757677420 EXO1 Stop gain E829X 0.001 0 0 3 1 0 0.008 0 0 0 0 0 50 222078 chr4 164393533 164393533 G A rs763628539 TKTL2 Nonsynonymous SNV P452S 0 0 0 1 0 0 0.003 0 0 0 0 0 25 222079 chr17 76446858 76446858 C T rs140797410 DNAH17 Nonsynonymous SNV R3602H 0 0.003 0 0 0 1 0 0 0 0 0 0 26 222080 chr4 169433108 169433108 C T rs143682790 PALLD Synonymous SNV N151N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.446 222081 chr4 170983111 170983111 C T rs139598358 AADAT Nonsynonymous SNV D390N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.349 222082 chr3 8669402 8669402 G A rs142057178 SSUH2 Nonsynonymous SNV A219V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.81 222083 chr5 102894672 102894672 A G NUDT12 Nonsynonymous SNV I217T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.084 222084 chr17 77082155 77082157 CTT - rs781113862 ENGASE F653del 0 0.003 0 0 0 1 0 0 0 0 0 0 222085 chr17 78184308 78184308 G A rs763360021 SGSH Synonymous SNV D484D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.943 222086 chr8 2054110 2054110 C T rs186389832 MYOM2 Nonsynonymous SNV A938V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 222087 chr4 100463258 100463258 C T rs149137653 C4orf17 Nonsynonymous SNV R358W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.6 222088 chr17 7950265 7950265 A G rs146833910 ALOX15B Nonsynonymous SNV Q414R 0 0.005 0 0 0 2 0 0 0 0 0 0 1.021 222089 chr4 10445584 10445586 ATG - rs546716534 ZNF518B I790del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 222090 chr5 182372 182372 G A rs144620343 PLEKHG4B Synonymous SNV T1606T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.595 222091 chr5 132159323 132159323 C T rs138469438 SHROOM1 Nonsynonymous SNV G649S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.46 222092 chr5 135277309 135277309 C T FBXL21P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 222093 chr5 1878646 1878646 C G rs989702737 IRX4 Nonsynonymous SNV G333R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.002 222094 chr2 11778015 11778015 C T rs35568947 GREB1 Synonymous SNV V1840V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 12.06 222095 chr8 17132466 17132466 C T rs145870117 VPS37A Nonsynonymous SNV P189L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 222096 chr5 10649615 10649615 C T rs968447109 ANKRD33B Nonsynonymous SNV T292M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.28 222097 chr17 9503481 9503481 C T rs146845939 CFAP52 Nonsynonymous SNV A177V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 222098 chr9 107531171 107531171 G A rs758266176 NIPSNAP3B Nonsynonymous SNV R100Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 222099 chr7 138329520 138329520 C T rs369684225 SVOPL Nonsynonymous SNV R92H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.185 222100 chr9 111929380 111929380 C T rs773235133 FRRS1L Synonymous SNV A64A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 16.41 222101 chr5 140720717 140720717 G C rs770135512 PCDHGA2 Nonsynonymous SNV A727P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.227 222102 chr9 113166722 113166722 G A rs779529336 SVEP1 Nonsynonymous SNV P3184L 0 0 0 1 0 0 0.003 0 0 0 0 0 26 222103 chr4 134072438 134072438 C T rs745922419 PCDH10 Synonymous SNV S381S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 222104 chr18 24442425 24442425 G C AQP4 Synonymous SNV T34T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.341 222105 chr5 140870213 140870213 C T rs202183643 PCDHGC5 Nonsynonymous SNV P469L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 222106 chr2 27730175 27730175 C T rs200593419 GCKR Synonymous SNV N380N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 5.058 222107 chr4 147179909 147179909 C T rs138035413 SLC10A7 Nonsynonymous SNV A297T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.97 222108 chr5 146889371 146889371 G T rs529445844 DPYSL3 Synonymous SNV P17P 0.005 0.008 0.007 0 6 3 0 2 0 0 0 0 11.84 222109 chr5 45695928 45695928 G T rs769305273 HCN1 Nonsynonymous SNV Q90K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.02 222110 chr5 45695929 45695929 C T rs775226551 HCN1 Synonymous SNV R89R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 222111 chr4 153332496 153332496 C T rs138477494 FBXW7 Nonsynonymous SNV V154I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.052 222112 chr18 3187585 3187585 G A rs201409582 MYOM1 Synonymous SNV L274L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.372 222113 chr8 27927141 27927141 C T rs17058564 NUGGC Synonymous SNV R59R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.44 222114 chr4 154525514 154525514 A T rs137968809 TMEM131L Nonsynonymous SNV N1117I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 222115 chr2 29917736 29917736 C T rs150966028 ALK Nonsynonymous SNV R311H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 16.06 222116 chr13 95227043 95227043 G A rs533417105 TGDS Nonsynonymous SNV P317L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 222117 chr18 43531180 43531180 G A EPG5 Nonsynonymous SNV P426L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 222118 chr5 150051968 150051968 A G MYOZ3 Nonsynonymous SNV Y164C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 222119 chr18 47438509 47438509 C T rs192207329 MYO5B Nonsynonymous SNV V709M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 222120 chr7 149576703 149576703 G A rs762329225 ATP6V0E2 Synonymous SNV E193E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.862 222121 chr7 150439476 150439476 G A rs146646600 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV T83T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.962 222122 chr5 71482572 71482572 C T rs111766097 MAP1B Synonymous SNV T41T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.55 222123 chr8 61734439 61734439 G A rs377330239 CHD7 Nonsynonymous SNV E930K 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 222124 chr22 19119529 19119529 T C rs775602028 TSSK2 Nonsynonymous SNV L206P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 222125 chr7 151859288 151859288 G T rs75191113 KMT2C Nonsynonymous SNV Q3792K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.97 222126 chr2 54028951 54028951 T C rs201385235 ERLEC1 Nonsynonymous SNV L284P 0 0 0.003 4 0 0 0.01 1 0 0 0 0 23.9 222127 chr9 130471733 130471735 AGG - rs775747316 CFAP157 E66del 0 0 0 1 0 0 0.003 0 0 0 0 0 222128 chr14 104643635 104643635 G C KIF26A Nonsynonymous SNV V1504L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.745 222129 chr5 76171302 76171302 C G rs148288662 S100Z Nonsynonymous SNV R40G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.48 222130 chr5 78260406 78260406 A G rs748739839 ARSB Nonsynonymous SNV Y175H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 222131 chr5 80057379 80057379 G A rs764832633 MSH3 Nonsynonymous SNV R593Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 222132 chr2 64322151 64322151 T C rs371941887 PELI1 Synonymous SNV V314V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.233 222133 chr2 64808383 64808383 T C rs761924597 AFTPH Nonsynonymous SNV S839P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 222134 chr9 131864248 131864248 G A CRAT Nonsynonymous SNV S240F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 222135 chr9 132638470 132638470 G A rs756856174 USP20 Nonsynonymous SNV E788K 0 0 0 1 0 0 0.003 0 0 0 0 0 35 222136 chr18 6956783 6956783 G A rs369691592 LOC101927188 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.887 222137 chr5 95091416 95091416 C T rs200115745 RHOBTB3 Synonymous SNV D333D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.5 222138 chr2 74595107 74595107 C T rs140523637 DCTN1 Nonsynonymous SNV R535H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 26.3 222139 chr5 110820122 110820122 T C CAMK4 Synonymous SNV G263G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.199 222140 chr18 76870384 76870384 G A rs34938281 ATP9B Nonsynonymous SNV R108Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.57 222141 chr18 77089179 77089179 G A rs61737608 ATP9B Synonymous SNV T604T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.83 222142 chr18 77090023 77090023 G A rs34286681 ATP9B Synonymous SNV T649T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.36 222143 chr4 39482113 39482113 G A rs1021610247 LOC401127 0 0 0.003 0 0 0 0 1 0 0 0 0 0.556 222144 chr22 31536085 31536085 G A PLA2G3 Nonsynonymous SNV L86F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.09 222145 chr4 41652622 41652622 C T rs143987835 LIMCH1 Synonymous SNV L460L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 14.73 222146 chr2 86344179 86344179 G A rs200488670 PTCD3 Nonsynonymous SNV R104H 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 11.98 222147 chr22 32650156 32650156 G - SLC5A4 A61Lfs*39 0.001 0 0 1 1 0 0.003 0 0 0 0 0 222148 chr5 115320333 115320333 A C rs146224958 LVRN Nonsynonymous SNV H302P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 222149 chr14 24788309 24788309 C T rs780875775 ADCY4 Nonsynonymous SNV R984Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 222150 chr9 139350068 139350068 G A rs376004494 SEC16A Nonsynonymous SNV R1948W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 222151 chr4 56730443 56730443 C T rs779044412 EXOC1 Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 222152 chr6 7581032 7581032 C T rs28763967 DSP Nonsynonymous SNV R1537C 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 25.2 222153 chr22 37603358 37603358 G A rs143323494 SSTR3 Nonsynonymous SNV T162M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.04 222154 chr6 7584213 7584213 C G rs374262024 DSP Nonsynonymous SNV Q1641E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.161 222155 chr2 99778989 99778989 C T LIPT1 Nonsynonymous SNV S190F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 222156 chr5 131944405 131944405 A G RAD50 Nonsynonymous SNV I939M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.58 222157 chr5 137323277 137323277 C T rs377243845 FAM13B Nonsynonymous SNV V189M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 222158 chr19 11598545 11598545 G T ZNF653 Nonsynonymous SNV P245T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 222159 chr8 28638424 28638424 C T rs754554220 INTS9 Nonsynonymous SNV G375R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 222160 chr8 144895693 144895693 G A rs773591724 SCRIB Synonymous SNV L150L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.94 222161 chr14 51111516 51111516 T C rs751794743 SAV1 Nonsynonymous SNV Y251C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 222162 chr8 144991524 144991524 G A rs773080070 PLEC Synonymous SNV Y4141Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.475 222163 chr4 73185054 73185054 A G rs35584754 ADAMTS3 Synonymous SNV Y449Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.005 222164 chr19 12991803 12991803 G A rs139356333 DNASE2 Nonsynonymous SNV R84W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 222165 chr19 13008591 13008591 G A rs398123190 GCDH Nonsynonymous SNV R386Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 222166 chr19 13264326 13264326 C T IER2 Nonsynonymous SNV A109V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 222167 chr2 113977678 113977678 T C rs199844947 PAX8 Nonsynonymous SNV S423G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.76 222168 chr9 20414310 20414310 - CTG MLLT3 S187_T188insS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 222169 chr4 76573853 76573853 G A G3BP2 Nonsynonymous SNV P267S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 222170 chr19 14044781 14044781 C T rs374514353 PODNL1 Nonsynonymous SNV R142Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 222171 chr4 7780475 7780475 G A rs372540875 AFAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.65 222172 chr14 58924545 58924545 C T KIAA0586 Synonymous SNV T337T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.311 222173 chr14 60591358 60591358 T C rs775152643 PCNX4 Synonymous SNV D589D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 222174 chr4 8082472 8082472 T C rs34049746 ABLIM2 Nonsynonymous SNV K171R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.24 222175 chr4 8242657 8242657 G T rs199521406 SH3TC1 Nonsynonymous SNV W1253L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.1 222176 chr4 8391393 8391393 G C rs377178118 ACOX3 Nonsynonymous SNV L457V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 222177 chr5 141694008 141694008 G A rs139806448 SPRY4 Synonymous SNV H222H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.033 222178 chr18 12825848 12825848 C T rs377245290 PTPN2 Synonymous SNV S123S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.69 222179 chr6 42689575 42689575 G A rs759752477 PRPH2 Synonymous SNV C166C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.5 222180 chr6 43230880 43230880 T C TTBK1 Nonsynonymous SNV V593A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.851 222181 chr5 149511562 149511562 G C rs200203294 PDGFRB Nonsynonymous SNV S344C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 27.5 222182 chr6 44320550 44320550 T C rs141903687 SPATS1 Nonsynonymous SNV V76A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 222183 chr2 164466638 164466638 A G rs188936612 FIGN Synonymous SNV H557H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.038 222184 chr6 46830740 46830740 C G rs141610704 ADGRF5 Nonsynonymous SNV S695T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.611 222185 chr14 77762518 77762518 G A rs779190087 POMT2 Nonsynonymous SNV R369C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 222186 chr9 35805879 35805879 A G NPR2 Synonymous SNV T700T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 222187 chr5 115336917 115336917 C T rs116763327 LVRN Nonsynonymous SNV R601W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 222188 chr5 154287154 154287154 C G rs375476320 GEMIN5 Nonsynonymous SNV A797P 0 0 0 2 0 0 0.005 0 0 0 0 0 11.41 222189 chr8 124748087 124748087 G C rs74368673 ANXA13 Nonsynonymous SNV Q16E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.08 222190 chr2 103335280 103335280 T C rs538334164 MFSD9 Nonsynonymous SNV I281V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 222191 chr19 18707829 18707829 A G rs1051858920 CRLF1 Nonsynonymous SNV V243A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 222192 chr5 161115984 161115984 G C rs115069685 GABRA6 Nonsynonymous SNV Q85H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 24.3 222193 chr8 125565690 125565690 A T rs149463159 MTSS1 Nonsynonymous SNV I539N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 222194 chr19 19453436 19453436 C T rs373006909 MAU2 Synonymous SNV P276P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.92 222195 chr8 133900662 133900662 G T rs2229843 TG Nonsynonymous SNV Q870H 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25 222196 chr9 990066 990066 C T rs370973993 DMRT3 Synonymous SNV D160D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.173 222197 chr18 46474794 46474794 - G rs747624971 SMAD7 Frameshift insertion P210Sfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 222198 chr6 70071050 70071050 C T rs61740403 ADGRB3 Synonymous SNV D1295D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.606 222199 chr6 70926740 70926740 C T COL9A1 Nonsynonymous SNV E633K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 222200 chr9 94172642 94172642 C G rs201907085 NFIL3 Nonsynonymous SNV K125N 0.007 0.003 0 0 8 1 0 0 0 0 0 0 28 222201 chr19 21205609 21205609 T C rs370425319 ZNF430 Synonymous SNV S6S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.437 222202 chrX 101912042 101912042 C T rs775271420 GPRASP1 Synonymous SNV P1067P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 222203 chr2 179600465 179600465 T C TTN Nonsynonymous SNV K3659R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.4 222204 chr9 96021342 96021342 G A rs751657139 WNK2 Nonsynonymous SNV V838M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 222205 chrX 103499502 103499502 C T rs782533196 ESX1 Nonsynonymous SNV S10N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.863 222206 chrX 105450376 105450376 C T rs776503123 PWWP3B Synonymous SNV C317C 0 0 0 1 0 0 0.003 0 0 0 0 0 6.805 222207 chr5 13841969 13841969 C T DNAH5 Synonymous SNV T1772T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 222208 chr18 51855807 51855807 T G STARD6 Nonsynonymous SNV K71T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 222209 chr9 98221955 98221955 C T rs587780534 PTCH1 Synonymous SNV Q886Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.532 222210 chr5 139192922 139192922 C T rs758502460 PSD2 Nonsynonymous SNV R134W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 222211 chr9 99212621 99212621 C T rs201552425 HABP4 Synonymous SNV F20F 0.008 0 0 2 9 0 0.005 0 0 0 0 0 22 222212 chr5 177580532 177580532 C T rs79031130 NHP2 Nonsynonymous SNV V64M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.9 222213 chr5 177657000 177657000 C T rs375283478 PHYKPL Synonymous SNV A52A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.3 222214 chr15 101775573 101775573 T G rs762150136 CHSY1 Nonsynonymous SNV K177T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.8 222215 chr6 99831620 99831620 A G rs772662627 COQ3 Nonsynonymous SNV S63P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 222216 chr19 31768038 31768038 G A rs148165190 TSHZ3 Synonymous SNV P887P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.245 222217 chr5 180687603 180687603 G A rs182640735 TRIM52 Nonsynonymous SNV A71V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.514 222218 chr6 106969030 106969030 C T rs763975227 CRYBG1 Nonsynonymous SNV S908L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 222219 chr5 141382775 141382775 A G rs138526991 GNPDA1 Nonsynonymous SNV I216T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 222220 chr8 145006815 145006815 G A rs374078214 PLEC Synonymous SNV Y587Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 6.667 222221 chr2 138375990 138375990 C T rs376805206 THSD7B Synonymous SNV N1198N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.49 222222 chr6 7569480 7569480 A T rs28763961 DSP Nonsynonymous SNV Y494F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 19.99 222223 chr5 148408055 148408055 C T rs138303846 SH3TC2 Nonsynonymous SNV V414M 0 0 0.01 0 0 0 0 3 0 0 0 0 Uncertain significance 0.001 222224 chr6 111696850 111696850 G A rs202001626 REV3L Nonsynonymous SNV T903M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 222225 chr6 7585668 7585668 C T rs141078292 DSP Nonsynonymous SNV R2126C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 222226 chrX 152770227 152770227 C A rs368511428 BGN Synonymous SNV T46T 0.003 0 0 1 3 0 0.003 0 1 0 0 0 11.12 222227 chr8 145641374 145641374 G A rs376920807 SLC39A4 Synonymous SNV A73A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.061 222228 chr8 145657809 145657809 G A rs148092586 TONSL Synonymous SNV Y1198Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.683 222229 chr19 1003348 1003348 C T rs186778870 GRIN3B Nonsynonymous SNV R216W 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 24.5 222230 chrX 153409799 153409799 T A OPN1LW Nonsynonymous SNV H14Q 0.002 0 0 1 2 0 0.003 0 1 0 0 0 0.007 222231 chrX 153595185 153595185 C T rs371600068 FLNA Nonsynonymous SNV R301Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26 222232 chr6 119569498 119569498 C T MAN1A1 Nonsynonymous SNV E307K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 222233 chr15 41820102 41820102 C T rs372514392 RPAP1 Nonsynonymous SNV A462T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 222234 chr9 2829882 2829882 A C PUM3 Nonsynonymous SNV H248Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.407 222235 chr6 26033470 26033470 C T rs149461776 H2AC4 Synonymous SNV L109L 0.003 0.008 0 1 3 3 0.003 0 1 1 0 0 8.117 222236 chr5 156533945 156533949 CTCCG - HAVCR2 A28Gfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 222237 chr9 123636886 123636886 T A PHF19 Nonsynonymous SNV Y45F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.26 222238 chr5 161923 161923 T C rs113399108 PLEKHG4B Nonsynonymous SNV L838P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 5.039 222239 chr9 18941745 18941745 G A rs61743636 SAXO1 Nonsynonymous SNV T39M 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 24.8 222240 chrX 47919387 47919387 A T rs142721273 ZNF630 Synonymous SNV T148T 0.001 0.005 0 1 1 2 0.003 0 0 1 0 0 0.002 222241 chr9 19516274 19516274 G A rs139286484 SLC24A2 Synonymous SNV I604I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.96 222242 chr19 11446174 11446174 C T rs143406149 RAB3D Nonsynonymous SNV D141N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 222243 chrX 48759207 48759207 C T rs782164475 PQBP1 Synonymous SNV C60C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 222244 chr19 11833362 11833362 G A rs144091748 ZNF823 Synonymous SNV D147D 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 11.6 222245 chr19 11833719 11833719 G A rs117129463 ZNF823 Synonymous SNV H28H 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 7.417 222246 chr19 38774340 38774340 C T rs34298881 SPINT2 Synonymous SNV D60D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.3 222247 chrX 50037948 50037948 C T rs151272775 CCNB3 Nonsynonymous SNV T97I 0 0.005 0 1 0 2 0.003 0 0 1 0 0 10.53 222248 chr19 12430227 12430227 T C rs145965504 ZNF563 Synonymous SNV K204K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 0.696 222249 chr5 173317174 173317174 A G CPEB4 Synonymous SNV Q146Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 222250 chrX 67941902 67941902 C T rs61735034 STARD8 Nonsynonymous SNV R745C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 222251 chr19 13397486 13397486 C T rs370541345 CACNA1A Synonymous SNV P1129P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.8 222252 chr5 176024166 176024166 C G rs200588387 GPRIN1 Synonymous SNV R890R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.663 222253 chr9 38396462 38396462 G A rs746656134 ALDH1B1 Synonymous SNV T239T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.776 222254 chr2 179545047 179545047 G C TTN Nonsynonymous SNV P9874A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.4 222255 chr6 39864686 39864686 C T rs146966805 DAAM2 Nonsynonymous SNV R814C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 222256 chr5 179201581 179201581 A G rs757013264 MAML1 Synonymous SNV A918A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.528 222257 chrX 99662567 99662567 C A PCDH19 Synonymous SNV P343P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 222258 chr19 40732367 40732367 C T rs763602913 CNTD2 Nonsynonymous SNV R61K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 222259 chr19 40909664 40909664 G C rs115090201 PRX Nonsynonymous SNV R45G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 24.2 222260 chr15 59064288 59064288 G C rs200346069 MINDY2 Nonsynonymous SNV A232P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 222261 chr6 43010840 43010840 C T rs757432567 CUL7 Nonsynonymous SNV R1229H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 222262 chr5 192281 192281 C T rs200467210 LRRC14B Nonsynonymous SNV P210S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.8 222263 chr6 43608264 43608264 C T rs368776860 MAD2L1BP Synonymous SNV R273R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.79 222264 chr6 44219177 44219177 C T rs757814896 HSP90AB1 Synonymous SNV D382D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.38 222265 chr2 228564122 228564122 C T rs142837989 SLC19A3 Synonymous SNV V103V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign/Likely benign 11.61 222266 chr19 16035659 16035659 C T rs765039646 CYP4F11 Nonsynonymous SNV A187T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.53 222267 chr6 160491045 160491045 G C IGF2R Synonymous SNV R1466R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 222268 chr19 42814457 42814457 A G rs750660801 PRR19 Synonymous SNV T212T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 222269 chr6 47541940 47541940 C T rs150851309 CD2AP Nonsynonymous SNV R228W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 32 222270 chr5 35876373 35876373 G C rs143596606 IL7R Nonsynonymous SNV D389H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.95 222271 chr19 17004023 17004023 C T rs375776520 CPAMD8 Nonsynonymous SNV A1852T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.623 222272 chr2 190626330 190626330 - A rs765450377 OSGEPL1 Stop gain K24* 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 222273 chr19 44418392 44418392 C T rs747087833 ZNF45 Nonsynonymous SNV R399Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 222274 chr2 197784740 197784740 A G rs760940586 PGAP1 Synonymous SNV N94N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.901 222275 chr7 2394815 2394815 C T EIF3B Nonsynonymous SNV P87S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.294 222276 chr19 17837897 17837897 G A rs759694961 MAP1S Synonymous SNV T542T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.415 222277 chr6 70942386 70942386 G A rs759764758 COL9A1 Synonymous SNV P558P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.929 222278 chr5 55828938 55828938 A G rs199816445 C5orf67 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 222279 chr7 4823038 4823038 T A AP5Z1 Nonsynonymous SNV L153H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 222280 chr6 74320243 74320244 AC - rs386833988 SLC17A5 V380Sfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 222281 chr5 6312465 6312465 G T rs372745325 LINC02145 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 222282 chr5 64859249 64859249 G A PPWD1 Nonsynonymous SNV V38M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.13 222283 chr5 66479875 66479875 C - rs748378294 CD180 A266Pfs*40 0 0 0.007 2 0 0 0.005 2 0 0 0 0 222284 chr5 71494567 71494567 A C MAP1B Nonsynonymous SNV L1669F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.1 222285 chr6 88326130 88326130 T C rs779842615 ORC3 Synonymous SNV F181F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.194 222286 chr6 89977444 89977444 A C rs767903157 GABRR2 Nonsynonymous SNV I230M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 222287 chr9 115759717 115759718 TG - rs753513421 ZNF883 F274Lfs*8 0.002 0 0 0 2 0 0 0 0 0 0 0 222288 chr9 140953089 140953089 G A rs200998212 CACNA1B Synonymous SNV S1459S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 222289 chr5 74986348 74986348 T C rs559155991 POC5 Nonsynonymous SNV T254A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 222290 chr19 4684789 4684789 G C rs900698711 DPP9 Nonsynonymous SNV I688M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.39 222291 chr5 75594723 75594723 C T rs762560611 SV2C Nonsynonymous SNV T536I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 222292 chr19 47575191 47575191 T C rs913537573 ZC3H4 Nonsynonymous SNV M664V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.632 222293 chr7 21932096 21932096 T G rs148429731 DNAH11 Nonsynonymous SNV D4187E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 222294 chr7 21951356 21951356 T C rs767335629 CDCA7L Nonsynonymous SNV H61R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 222295 chr19 4839419 4839419 G A rs760142638 PLIN3 Nonsynonymous SNV R363C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 222296 chr7 29549003 29549003 C T CHN2 Synonymous SNV L198L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.71 222297 chr5 83550025 83550025 T C rs142764044 EDIL3 Nonsynonymous SNV I25V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.533 222298 chr5 87968912 87968912 - A LINC00461 0 0 0.003 0 0 0 0 1 0 0 0 0 222299 chr6 117842721 117842721 A G rs767109967 DCBLD1 Nonsynonymous SNV Y165C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 222300 chr15 91425077 91425077 C A FURIN Nonsynonymous SNV T785N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 222301 chr3 14724530 14724530 C T rs375369417 C3orf20 Nonsynonymous SNV R104C 0 0 0 2 0 0 0.005 0 0 0 0 0 14.93 222302 chr3 14964637 14964637 G A rs148880716 FGD5 Nonsynonymous SNV G1298R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 222303 chr9 129157899 129157899 A G rs751735053 MVB12B Synonymous SNV P195P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.54 222304 chr9 130444685 130444685 C T rs145304925 STXBP1 Synonymous SNV S480S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 15.21 222305 chr19 37038584 37038584 T C rs183728423 ZNF529 Synonymous SNV R274R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.305 222306 chr19 50794281 50794281 G A rs375599200 MYH14 Synonymous SNV A1660A 0 0.003 0 0 0 1 0 0 0 0 0 0 16 222307 chr7 45701768 45701768 C T rs148459696 ADCY1 Synonymous SNV A520A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.08 222308 chr6 139170481 139170481 T C rs774389434 ECT2L Nonsynonymous SNV Y327H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 222309 chr10 31815907 31815907 G A rs140617391 ZEB1 Synonymous SNV R956R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 222310 chr16 1464002 1464002 G A rs145680137 UNKL Synonymous SNV C44C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.15 222311 chr3 39374263 39374263 C T rs777954631 CCR8 Synonymous SNV I147I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.749 222312 chr19 39398122 39398122 C T rs78597201 NFKBIB Synonymous SNV G178G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.911 222313 chr3 40291979 40291979 C T rs773389403 MYRIP Nonsynonymous SNV P619L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 222314 chr6 118813007 118813007 G A rs779489293 CEP85L Nonsynonymous SNV L427F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 222315 chr16 16173335 16173335 - GTAGGA rs559026452 ABCC1 K705_G706insVG 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 222316 chr19 41239168 41239168 G A rs144541337 ITPKC Nonsynonymous SNV E525K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 222317 chr16 19896609 19896609 A T GPRC5B Stop gain L103X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.965 222318 chr16 2014352 2014352 G A rs764068725 RPS2 Synonymous SNV T64T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.148 222319 chr16 2051047 2051047 G A rs747225313 ZNF598 Nonsynonymous SNV R387C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 222320 chr16 2087001 2087001 - A rs780870114 SLC9A3R2 0.001 0 0 0 1 0 0 0 0 0 0 0 222321 chr16 2225385 2225385 C T rs756602651 TRAF7 Synonymous SNV N490N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.94 222322 chr6 159654699 159654699 C T rs199539799 FNDC1 Nonsynonymous SNV S1052F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.242 222323 chr3 47043522 47043522 T C rs892114640 NBEAL2 Nonsynonymous SNV V1598A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.752 222324 chr6 148840720 148840720 G C rs201440091 SASH1 Synonymous SNV L61L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.404 222325 chr2 242690702 242690702 G A rs142624021 D2HGDH Nonsynonymous SNV A213T 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 8.683 222326 chr6 149918752 149918752 A C KATNA1 Nonsynonymous SNV D271E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.056 222327 chr3 48638150 48638150 T G rs756660242 UQCRC1 Nonsynonymous SNV K364Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 222328 chr16 28506894 28506894 - AGG APOBR E184_V185insE 0.001 0 0 0 1 0 0 0 0 0 0 0 222329 chr7 92763606 92763606 A C rs745399870 SAMD9L Nonsynonymous SNV L560R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 222330 chr7 100225720 100225720 C T rs148541221 TFR2 Nonsynonymous SNV V334M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.9 222331 chr9 140348257 140348257 C T rs760545169 NSMF Nonsynonymous SNV R258H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 222332 chr19 4523855 4523855 G A rs150673723 PLIN5 Synonymous SNV D359D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.458 222333 chr6 160445693 160445693 C T rs11759563 IGF2R Synonymous SNV S201S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 222334 chr3 55508614 55508614 C A rs931549406 WNT5A Synonymous SNV G130G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 222335 chr19 55992731 55992731 G C ZNF628 Synonymous SNV T57T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.687 222336 chr16 3613219 3613219 C G rs748149175 NLRC3 Nonsynonymous SNV E573D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 222337 chr2 36774175 36774175 G C rs761825853 CRIM1 Nonsynonymous SNV S932T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 222338 chr3 62278347 62278347 A C rs144703613 PTPRG-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.081 222339 chr19 56369684 56369685 GT - rs773160721 NLRP4 Y310Ffs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 222340 chr16 4744166 4744166 C T NUDT16L1 Nonsynonymous SNV A114V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 222341 chr3 77657059 77657059 C T rs376267133 ROBO2 Nonsynonymous SNV P1083S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.7 222342 chr3 89390220 89390220 C T rs774536871 EPHA3 Synonymous SNV T323T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.67 222343 chr19 47844249 47844249 C T rs144687097 C5AR2 Nonsynonymous SNV R65C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 222344 chr10 91144172 91144172 C T rs140342484 IFIT1B Nonsynonymous SNV R368C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.308 222345 chr6 25701468 25701468 C T SCGN Nonsynonymous SNV R246C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 222346 chr19 49129463 49129463 A G SPHK2 Nonsynonymous SNV T83A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.98 222347 chr10 29821055 29821055 C T rs779398845 SVIL Nonsynonymous SNV G629S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 222348 chr10 99349783 99349783 C T rs140956245 C10orf62 Synonymous SNV S43S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.5 222349 chr7 107671385 107671385 A T rs1029865191 LAMB4 Nonsynonymous SNV L1620I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 222350 chr10 100011448 100011448 G A rs755364538 LOXL4 Nonsynonymous SNV R655C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 222351 chr19 6165999 6165999 C T rs112641649 ACSBG2 Synonymous SNV P237P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.603 222352 chr7 32467434 32467434 C G PDE1C Nonsynonymous SNV V104L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 222353 chr6 33639842 33639842 A C rs554997694 ITPR3 Nonsynonymous SNV H922P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.03 222354 chr10 43883047 43883047 C A HNRNPF Nonsynonymous SNV V96L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.1 222355 chr7 122303344 122303344 G C CADPS2 Nonsynonymous SNV Q245E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.16 222356 chr19 50547936 50547936 A T rs749217626 ZNF473 Nonsynonymous SNV E67V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 222357 chr6 39835371 39835371 C T rs367610796 DAAM2 Nonsynonymous SNV R172C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 222358 chr7 45222888 45222888 G A rs769989449 RAMP3 Synonymous SNV R108R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.321 222359 chr19 8197890 8197890 C T rs746969140 FBN3 Synonymous SNV A564A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 222360 chr6 41309625 41309625 G C rs35180361 NCR2 Nonsynonymous SNV R163T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 222361 chr16 727034 727034 G A RHBDL1 Nonsynonymous SNV E89K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.792 222362 chr16 72991378 72991378 G A rs147131884 ZFHX3 Synonymous SNV S889S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.77 222363 chr3 124515617 124515617 G A rs766499416 ITGB5 Synonymous SNV H284H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.113 222364 chr7 48626815 48626815 C T ABCA13 Synonymous SNV Y4857Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.27 222365 chr7 49815224 49815224 C A VWC2 Nonsynonymous SNV P65T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.08 222366 chr6 43325354 43325354 C T rs144602640 ZNF318 Nonsynonymous SNV R233Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 222367 chr6 43412532 43412532 G A rs142010618 ABCC10 Nonsynonymous SNV R871Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 32 222368 chr19 52272080 52272080 C T rs142611552 FPR2 Nonsynonymous SNV R57C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 222369 chr3 126193951 126193951 T C rs747606001 ZXDC Nonsynonymous SNV Y253C 0 0 0 1 0 0 0.003 0 0 0 0 0 24 222370 chr6 44278801 44278801 C T rs765016818 AARS2 Nonsynonymous SNV D227N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 222371 chr3 127396065 127396065 C T rs373888032 ABTB1 Nonsynonymous SNV A91V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.218 222372 chr10 116331131 116331131 T C ABLIM1 Nonsynonymous SNV N140D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 222373 chr3 128721020 128721020 C T EFCC1 Synonymous SNV R183R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.09 222374 chr19 53086322 53086322 G A rs186877176 ZNF701 Nonsynonymous SNV R337H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.09 222375 chr10 118236315 118236315 G A rs199630485 PNLIPRP3 Nonsynonymous SNV G442R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 222376 chr6 47763187 47763187 T C rs765640069 OPN5 Nonsynonymous SNV I215T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 222377 chr2 97274268 97274268 A G rs145222575 KANSL3 Nonsynonymous SNV V345A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.6 222378 chr7 75894739 75894739 C G rs10252497 SRRM3 Nonsynonymous SNV H261Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 222379 chr7 76922426 76922426 G A rs143220108 CCDC146 Nonsynonymous SNV G858D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 222380 chr7 144096854 144096854 A C rs773160807 NOBOX Nonsynonymous SNV C384G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 222381 chr6 549226 549226 G A rs199850010 EXOC2 Synonymous SNV I729I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 222382 chr7 149480243 149480243 C A rs201615047 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 12.94 222383 chr6 64404514 64404514 A C PHF3 Nonsynonymous SNV E759A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 222384 chr16 85699778 85699778 T C GSE1 Synonymous SNV S881S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.437 222385 chr3 108705737 108705737 A T rs114067906 MORC1 Synonymous SNV L749L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 222386 chr10 81373759 81373759 C T rs369165505 SFTPA1 Stop gain R213X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 222387 chr10 134540388 134540388 G A rs34902202 INPP5A Synonymous SNV L173L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.35 222388 chr7 96635553 96635553 C A DLX6 Nonsynonymous SNV H88Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.56 222389 chr6 7575559 7575559 C T rs141834182 DSP Nonsynonymous SNV S823L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26 222390 chr7 96810340 96810340 T C rs202062541 SDHAF3 Nonsynonymous SNV L64S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 222391 chr3 160395618 160395618 G A rs550741923 ARL14 Nonsynonymous SNV E162K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.14 222392 chr3 160395671 160395671 G A rs267599666 ARL14 Nonsynonymous SNV M179I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.17 222393 chr10 93244096 93244096 A G HECTD2 Nonsynonymous SNV Y276C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 222394 chr8 2041852 2041852 G A MYOM2 Nonsynonymous SNV V687I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 222395 chr11 290925 290925 G A rs774913967 PGGHG Nonsynonymous SNV V240I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.22 222396 chr19 56416426 56416426 G T rs142761258 NLRP13 Nonsynonymous SNV L834I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 222397 chr8 6479069 6479069 C T rs1085307735 MCPH1 Nonsynonymous SNV P677L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 222398 chr8 8185442 8185442 A G rs747275365 PRAG1 Synonymous SNV Y950Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.154 222399 chr10 98031126 98031126 G A rs539394141 BLNK Synonymous SNV P10P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.46 222400 chr11 556940 556940 C A rs980397980 LMNTD2 Nonsynonymous SNV G291C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.9 222401 chr11 556941 556941 C A rs144777828 LMNTD2 Synonymous SNV P290P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.51 222402 chr17 10397970 10397970 T C rs149879944 MYH1 Synonymous SNV E1829E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.802 222403 chr8 12879266 12879266 G A rs117300543 TRMT9B Nonsynonymous SNV V234M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.329 222404 chr19 57932493 57932493 C T rs768976782 ZNF17 Nonsynonymous SNV R545W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 222405 chr10 103899047 103899047 C T rs143974270 PPRC1 Nonsynonymous SNV A261V 0.006 0.005 0.007 1 7 2 0.003 2 0 0 0 0 26.3 222406 chr3 129023491 129023491 C A rs147986626 HMCES Synonymous SNV P254P 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 18.77 222407 chr10 105127961 105127961 C T rs759573716 TAF5 Nonsynonymous SNV A72V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.322 222408 chr8 18662399 18662399 C T rs35222739 PSD3 Synonymous SNV G14G 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 14.6 222409 chr1 120263921 120263921 A C rs767488641 PHGDH Synonymous SNV T89T 0 0.005 0 0 0 2 0 0 0 1 0 0 Likely benign 0.042 222410 chr8 19816887 19816887 A G rs300 LPL Nonsynonymous SNV T379A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.14 222411 chr7 100552933 100552933 G A rs770825182 MUC3A Synonymous SNV P1136P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.494 222412 chr1 12711267 12711267 C T rs150632390 AADACL4 Synonymous SNV P98P 0 0.003 0 3 0 1 0.008 0 0 0 0 0 16.81 222413 chr1 14105084 14105084 A G rs373992678 PRDM2 Nonsynonymous SNV D64G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 222414 chr3 193335617 193335617 C T OPA1 Nonsynonymous SNV L165F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.3 222415 chr17 17722408 17722408 G A rs368049193 SREBF1 Synonymous SNV N305N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 222416 chr3 134277112 134277112 G A rs149211765 CEP63 Synonymous SNV Q486Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.41 222417 chr7 102585031 102585031 G A rs117261467 LRRC17 Nonsynonymous SNV V435I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.1 222418 chr7 102957456 102957456 T C DNAJC2 Synonymous SNV E363E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.584 222419 chr7 104753188 104753188 T C rs144315355 KMT2E Nonsynonymous SNV V1662A 0 0 0.007 2 0 0 0.005 2 0 0 0 0 18.4 222420 chr1 150444869 150444869 G A RPRD2 Nonsynonymous SNV A1123T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.94 222421 chr7 106509933 106509933 A G rs28763989 PIK3CG Nonsynonymous SNV I643V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Benign 10.06 222422 chr7 111379247 111379247 C T rs753789003 DOCK4 Synonymous SNV L1716L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.14 222423 chr7 112555438 112555438 G A rs187442469 BMT2 Synonymous SNV A75A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.65 222424 chr1 151748733 151748733 C G rs202113370 TDRKH Nonsynonymous SNV L352F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 222425 chr10 124380739 124380739 G A rs374741257 DMBT1 Synonymous SNV S1060S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.428 222426 chr7 116739889 116739889 G A rs759010682 ST7 Synonymous SNV G75G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.89 222427 chr7 117230489 117230489 G A rs755986694 CFTR Nonsynonymous SNV E588K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 23.9 222428 chr7 117368273 117368273 C T rs371160545 CTTNBP2 Nonsynonymous SNV D1291N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.63 222429 chr8 29046043 29046043 T C rs201506710 KIF13B Nonsynonymous SNV Y102C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 222430 chr7 121942394 121942394 T C FEZF1 Nonsynonymous SNV H362R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 222431 chr7 124404528 124404528 T G GPR37 Nonsynonymous SNV Q168P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.271 222432 chr7 127239434 127239434 G C rs147048987 FSCN3 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 222433 chr1 152957800 152957800 - CATG rs772173945 SPRR1A Frameshift insertion I34Mfs*15 0 0.003 0 0 0 1 0 0 0 0 0 0 222434 chr7 127544840 127544840 G C SND1 Nonsynonymous SNV V499L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.95 222435 chr7 127992530 127992530 C G rs530537093 PRRT4 Synonymous SNV G360G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.065 222436 chr8 36673142 36673142 T C KCNU1 Nonsynonymous SNV M311T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24 222437 chr8 37693177 37693177 G A rs151148392 ADGRA2 Nonsynonymous SNV V647I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.74 222438 chr7 12665412 12665412 G T rs370586675 SCIN Nonsynonymous SNV R59S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 222439 chr1 153520175 153520175 G A rs571596892 S100A3 Nonsynonymous SNV P97S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.002 222440 chr1 153744887 153744887 G A INTS3 Nonsynonymous SNV R931Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 222441 chr8 41801448 41801448 C T rs190790272 KAT6A Synonymous SNV P682P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.42 222442 chr17 26669372 26669372 C T rs3093722 TNFAIP1 Synonymous SNV D206D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.02 222443 chr11 2549167 2549167 C T KCNQ1 Synonymous SNV I132I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Likely benign 14.92 222444 chr4 2965025 2965025 C A rs552756097 NOP14 Nonsynonymous SNV G8W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.76 222445 chr11 3765754 3765754 G A rs775369623 NUP98 Nonsynonymous SNV P465S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.5 222446 chr7 132174130 132174130 C T rs944457792 PLXNA4 Nonsynonymous SNV R431H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 222447 chr8 56985661 56985661 A G rs754631108 RPS20 Synonymous SNV I116I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.92 222448 chr10 134999773 134999773 G A rs376720406 KNDC1 Synonymous SNV T307T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.905 222449 chr4 3495099 3495099 C T rs776733631 DOK7 Synonymous SNV S152S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 222450 chr8 71499360 71499360 C T rs145890664 TRAM1 Nonsynonymous SNV A122T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 222451 chr7 141427795 141427795 G A WEE2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.434 222452 chr4 7770703 7770703 G A rs376912459 AFAP1 Synonymous SNV N678N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.69 222453 chr7 142658191 142658191 C T rs763303171 KEL Nonsynonymous SNV R75H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.797 222454 chr1 157497653 157497653 - CCAGGGTT FCRL5 Frameshift insertion V572Nfs*56 0 0.003 0 0 0 1 0 0 0 0 0 0 222455 chr1 157497670 157497670 G A FCRL5 Nonsynonymous SNV P566L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 222456 chr4 8229288 8229288 G A rs148487367 SH3TC1 Nonsynonymous SNV V547M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.34 222457 chr7 143096843 143096843 G - rs776794841 EPHA1 R246Afs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 222458 chr1 158517706 158517706 T C rs144804623 OR6Y1 Nonsynonymous SNV M64V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 222459 chr7 148990574 148990574 C T rs527535490 LOC155060 0 0 0.01 0 0 0 0 3 0 0 0 0 5.914 222460 chr7 150558217 150558217 G A rs749075510 AOC1 Nonsynonymous SNV V726I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 222461 chr17 38938724 38938724 T C rs759587604 KRT27 Nonsynonymous SNV T8A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.364 222462 chr3 194126675 194126675 T C rs147042103 ATP13A3 Synonymous SNV G1218G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.094 222463 chr1 162467964 162467964 G T rs55807440 UHMK1 Synonymous SNV P58P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.91 222464 chr7 156754850 156754850 G T rs142959734 NOM1 Synonymous SNV R547R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.05 222465 chr4 41694352 41694352 G C rs1043576926 LIMCH1 Nonsynonymous SNV R866S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 222466 chr11 6048152 6048152 T C rs147330806 OR56A1 Nonsynonymous SNV I261M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.128 222467 chr8 4495039 4495039 T C rs199582713 CSMD1 Nonsynonymous SNV I43V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.973 222468 chr8 6264206 6264206 G A rs780940062 MCPH1 Synonymous SNV L6L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.416 222469 chr8 126091076 126091076 G C WASHC5 Synonymous SNV S57S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.473 222470 chr1 168698285 168698285 C T rs749307060 DPT Nonsynonymous SNV R43Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29 222471 chr3 197607405 197607405 A C LRCH3 Nonsynonymous SNV D708A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 222472 chr1 169512223 169512223 G A rs78958618 F5 Nonsynonymous SNV T702I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.169 222473 chr8 134487983 134487983 G A rs113350588 ST3GAL1 Synonymous SNV D95D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.944 222474 chr4 53610801 53610801 C T ERVMER34-1 Nonsynonymous SNV G296D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.8 222475 chr4 54319188 54319193 AGAGAG - rs754149079 FIP1L1 E390_R391del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 222476 chr3 32932382 32932382 A G rs766989546 TRIM71 Synonymous SNV V562V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 222477 chr8 140744275 140744275 C T rs550612917 TRAPPC9 Nonsynonymous SNV D1067N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 222478 chr4 62936092 62936092 C A rs200367437 ADGRL3 Nonsynonymous SNV N1265K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.518 222479 chr8 144378764 144378764 T C rs566213035 ZNF696 Nonsynonymous SNV F307L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.16 222480 chr8 17157724 17157724 T C rs148830623 MTMR7 Nonsynonymous SNV K544E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.92 222481 chr11 9051442 9051442 G C rs200466221 SCUBE2 Nonsynonymous SNV T676S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 222482 chr3 39227426 39227426 T C XIRP1 Nonsynonymous SNV T1171A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 222483 chr11 11989956 11989956 G A rs377759604 DKK3 Nonsynonymous SNV R172W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 222484 chr8 22488084 22488084 T C BIN3 Synonymous SNV S8S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.3 222485 chr8 144994566 144994566 G A rs61529674 PLEC Synonymous SNV G3127G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 8.973 222486 chr4 79747308 79747308 T C rs759094545 BMP2K Nonsynonymous SNV M99T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 222487 chr11 17632114 17632114 C T OTOG Nonsynonymous SNV T1768I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 222488 chr7 44571767 44571767 G A rs151211428 NPC1L1 Nonsynonymous SNV P820L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.102 222489 chr8 144999993 144999993 C T rs782083203 PLEC Synonymous SNV A1354A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.913 222490 chr4 87692603 87692603 G A PTPN13 Nonsynonymous SNV E1504K 0 0 0 1 0 0 0.003 0 0 0 0 0 22 222491 chr8 145617747 145617747 C T ADCK5 Nonsynonymous SNV A452V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.427 222492 chr8 145641278 145641278 G A rs782454483 SLC39A4 Synonymous SNV L105L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.718 222493 chr7 5104685 5104685 C T rs374791225 RBAK Nonsynonymous SNV P533L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 222494 chr1 19559197 19559197 G A EMC1 Nonsynonymous SNV S546F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 222495 chr4 100130004 100130004 C T rs200368518 ADH6 Nonsynonymous SNV A217T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 222496 chr7 5460704 5460704 G A rs150268036 TNRC18 Synonymous SNV L58L 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 10.62 222497 chr7 57247625 57247625 T G rs111713210 GUSBP10 0 0 0.003 0 0 0 0 1 0 0 0 0 1.111 222498 chr9 842146 842146 A G rs201947617 DMRT1 Nonsynonymous SNV K103R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 222499 chr1 19983592 19983592 C G MICOS10-NBL1, NBL1 Synonymous SNV P172P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 222500 chr1 200978486 200978486 T C KIF21B Nonsynonymous SNV T58A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 222501 chr1 201009066 201009066 G A rs149547196 CACNA1S Nonsynonymous SNV P1839S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 2.863 222502 chr9 6015554 6015554 C T rs777545173 RANBP6 Synonymous SNV E18E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.06 222503 chr8 67089447 67089447 G A CRH Nonsynonymous SNV P89L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 222504 chr9 12821406 12821406 G A rs143572342 LURAP1L Nonsynonymous SNV V112I 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23.5 222505 chr7 75692911 75692911 G A MDH2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 222506 chr4 119689333 119689333 T C rs372226200 SEC24D Nonsynonymous SNV N393S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 222507 chr9 17394788 17394788 C T CNTLN Nonsynonymous SNV A779V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 222508 chr8 86129663 86129663 G A RBIS Synonymous SNV N22N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.77 222509 chr1 158262544 158262544 A G rs146296717 CD1C Nonsynonymous SNV N257D 0.003 0 0.003 0 4 0 0 1 0 0 0 0 22.8 222510 chr7 89909172 89909172 G A rs370960683 CFAP69 Nonsynonymous SNV R446Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.61 222511 chr8 95953060 95953060 A C rs531048329 TP53INP1 Nonsynonymous SNV I37R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 222512 chr9 35403941 35403941 C T rs376478024 UNC13B Nonsynonymous SNV R1193W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 222513 chr8 100904177 100904177 C G rs761791196 COX6C Nonsynonymous SNV V25L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.127 222514 chr1 205779322 205779322 C T rs760963832 SLC41A1 Nonsynonymous SNV R83H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.687 222515 chr7 98581954 98581954 C T rs899505518 TRRAP Synonymous SNV G3062G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.3 222516 chr7 98997955 98997955 G A rs148987199 PDAP1 Synonymous SNV D102D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 222517 chr17 66989195 66989195 C T rs200932925 ABCA9 Nonsynonymous SNV A1196T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.491 222518 chr17 67080579 67080579 C T rs145416811 ABCA6 Synonymous SNV T1418T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.714 222519 chr8 117950722 117950722 G C AARD Nonsynonymous SNV Q80H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.16 222520 chr1 214507610 214507610 G T rs141849218 SMYD2 Nonsynonymous SNV G394C 0 0.005 0 0 0 2 0 0 0 0 0 0 27.4 222521 chr4 169343770 169343770 G A rs202002269 DDX60L Nonsynonymous SNV R717W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 222522 chr9 92220365 92220365 A G rs371625737 GADD45G Synonymous SNV K24K 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 1.981 222523 chr11 13514173 13514173 C G rs142613980 PTH Nonsynonymous SNV G43R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 222524 chr8 133910021 133910021 C T rs112300885 TG Synonymous SNV H1043H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.353 222525 chr8 117887121 117887121 - C rs748270753 RAD21-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 222526 chr9 95381857 95381857 C T rs747961441 LOC100128361 0 0.003 0 0 0 1 0 0 0 0 0 0 1.659 222527 chr8 118170016 118170016 C T SLC30A8 Nonsynonymous SNV P169S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.686 222528 chr1 220157552 220157552 G A rs993925858 EPRS1 Nonsynonymous SNV S1029F 0 0.003 0 0 0 1 0 0 0 0 0 0 33 222529 chr4 175649625 175649625 C T GLRA3 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 222530 chr8 134225290 134225290 G A rs202221836 CCN4 Nonsynonymous SNV D85N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 222531 chr11 17531284 17531284 G A rs142545736 USH1C Synonymous SNV D544D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.32 222532 chr4 177089929 177089929 G A rs139095776 WDR17 Nonsynonymous SNV D1033N 0 0 0 2 0 0 0.005 0 0 0 0 0 21.6 222533 chr11 17596370 17596370 C T rs779489639 OTOG Synonymous SNV G811G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.58 222534 chr4 186446224 186446224 C T rs148570356 PDLIM3 Synonymous SNV A65A 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Benign/Likely benign 16.87 222535 chr9 104133393 104133393 A G rs200611677 BAAT Synonymous SNV N98N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.578 222536 chr9 107574960 107574960 C T rs35545593 ABCA1 Synonymous SNV G1315G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 14.76 222537 chr9 113196771 113196771 C T rs376217209 SVEP1 Nonsynonymous SNV G1635E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.408 222538 chr8 143747456 143747456 C T rs74769052 JRK Nonsynonymous SNV G8R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 222539 chr9 115336630 115336630 G A rs149787237 KIAA1958 Synonymous SNV V90V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.969 222540 chr5 24509872 24509872 G A rs144567766 CDH10 Synonymous SNV T353T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.776 222541 chr1 233518451 233518451 G A rs116519664 MAP3K21 Synonymous SNV L1035L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 222542 chr8 144993258 144993258 G A rs782672000 PLEC Synonymous SNV G3563G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.736 222543 chr11 62455867 62455867 C T rs751070802 LRRN4CL Synonymous SNV T38T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.64 222544 chr9 977054 977054 C A rs116052222 DMRT3 Nonsynonymous SNV P18Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 29.9 222545 chr9 1056774 1056774 C T rs142308383 DMRT2 Nonsynonymous SNV S222L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.17 222546 chr5 36257634 36257634 G C rs772913076 RANBP3L Nonsynonymous SNV Q208E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.47 222547 chr5 37184983 37184983 G A rs202103224 CPLANE1 Nonsynonymous SNV T1463I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.4 222548 chr11 63933398 63933398 G A MACROD1 Synonymous SNV P23P 0.003 0 0 0 4 0 0 0 0 0 0 0 4.309 222549 chr1 23765676 23765676 C T ASAP3 Nonsynonymous SNV C322Y 0 0.003 0 0 0 1 0 0 0 0 0 0 18.02 222550 chr11 64787911 64787911 C T rs370382116 ARL2 Synonymous SNV L120L 0.003 0 0 0 4 0 0 0 0 0 0 0 16.65 222551 chr17 8051007 8051007 C T rs1005080461 PER1 Nonsynonymous SNV R458H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 222552 chr1 2428048 2428048 C T rs369485909 PLCH2 Nonsynonymous SNV A586V 0 0.008 0 0 0 3 0 0 0 1 0 0 12.44 222553 chr17 80972344 80972344 G C B3GNTL1 Nonsynonymous SNV Q132E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 222554 chr4 176556153 176556153 C T rs761654776 GPM6A Nonsynonymous SNV R212Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 222555 chr11 65393524 65393524 C T rs199564510 PCNX3 Synonymous SNV R1126R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.007 222556 chr11 65417482 65417482 C G rs756422511 SIPA1 Synonymous SNV A936A 0.003 0 0 0 4 0 0 0 0 0 0 0 7.08 222557 chr8 1833831 1833831 A G rs147931758 ARHGEF10 Synonymous SNV E342E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.058 222558 chr5 65321366 65321366 A G rs143695017 ERBIN Synonymous SNV P292P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 8.02 222559 chr9 131730805 131730805 C T rs777253110 NUP188 Synonymous SNV R202R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.48 222560 chr9 131939277 131939277 T C rs763167027 IER5L Nonsynonymous SNV N352S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 222561 chr11 66249730 66249730 G A rs139018330 DPP3 Nonsynonymous SNV R20H 0.003 0 0 0 4 0 0 0 0 0 0 0 25.7 222562 chr11 66299212 66299212 A C BBS1 Nonsynonymous SNV K565T 0.003 0 0 0 4 0 0 0 0 0 0 0 17.57 222563 chr11 66392395 66392395 G A rs146918957 RBM14 Nonsynonymous SNV A350T 0.003 0 0 0 4 0 0 0 0 0 0 0 18.23 222564 chr9 134136547 134136547 C T rs548824827 FAM78A Nonsynonymous SNV V172I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 222565 chr1 248202095 248202095 T G rs749465429 OR2L2 Nonsynonymous SNV F176V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 222566 chr8 28932850 28932850 C T rs767471422 KIF13B Nonsynonymous SNV R1490H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 222567 chr18 25573585 25573585 G A rs749639068 CDH2 Nonsynonymous SNV T315M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 222568 chr9 135470446 135470446 C T rs975105803 DDX31 Nonsynonymous SNV R715H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.96 222569 chr9 135778080 135778080 C T rs1033725987 TSC1 Nonsynonymous SNV R717H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 222570 chr1 214557945 214557945 C T rs141247660 PTPN14 Nonsynonymous SNV S418N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.7 222571 chr5 79373919 79373919 G A rs771933835 THBS4 Nonsynonymous SNV V621I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 222572 chr9 82324592 82324592 A G rs201703349 TLE4 Nonsynonymous SNV T346A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 222573 chr8 37823493 37823495 CGA - ADRB3 S165del 0 0 0.003 0 0 0 0 1 0 0 0 0 222574 chr8 41470387 41470387 C T rs761755761 GPAT4 Synonymous SNV L273L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 222575 chr11 57995640 57995640 G A rs764212536 OR10Q1 Synonymous SNV A236A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.08 222576 chr8 42162712 42162712 G A rs201246197 IKBKB Synonymous SNV A130A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.79 222577 chr11 76901856 76901856 G A rs371221562 MYO7A Nonsynonymous SNV D1289N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.8 222578 chr11 76796082 76796082 G A rs368891933 CAPN5 Synonymous SNV R50R 0 0 0 2 0 0 0.005 0 0 0 0 0 13.47 222579 chr9 100667134 100667134 T C rs771554798 TRMO Nonsynonymous SNV I257V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.54 222580 chr11 59282665 59282665 T G OR4D9 Nonsynonymous SNV F94V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 222581 chr9 100963856 100963856 C T rs776900208 TBC1D2 Nonsynonymous SNV V328I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 222582 chr1 27943456 27943456 G A rs201872694 FGR Synonymous SNV Y198Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.247 222583 chr9 139841003 139841003 T C rs138632480 C8G Nonsynonymous SNV Y181H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.8 222584 chr9 139943163 139943163 C G rs141498031 ENTPD2 Synonymous SNV A455A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.27 222585 chr1 35658492 35658492 C T rs76077726 SFPQ Synonymous SNV Q53Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.129 222586 chr1 36645615 36645615 C T rs191108587 MAP7D1 Nonsynonymous SNV A783V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.2 222587 chr10 1405802 1405802 C T rs768253203 ADARB2 Synonymous SNV T166T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.65 222588 chr9 114174295 114174295 T C rs185140005 ECPAS Nonsynonymous SNV H738R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 222589 chr1 233231520 233231520 A C PCNX2 Synonymous SNV A1309A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.318 222590 chr5 126145880 126145880 C T rs762491977 LMNB1 Synonymous SNV N7N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.3 222591 chr5 126791100 126791100 A T rs745591064 MEGF10 Synonymous SNV G1011G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.392 222592 chr8 88296987 88296987 G T CNBD1 Stop gain E285X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 222593 chr8 88885807 88885807 G C rs778432692 DCAF4L2 Nonsynonymous SNV C131W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 222594 chr1 40030133 40030133 G A rs373943446 PABPC4 Nonsynonymous SNV P472L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.8 222595 chr1 23520259 23520259 C A rs142643700 HTR1D Nonsynonymous SNV A152S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 5.934 222596 chr1 235383177 235383177 T C rs115913779 ARID4B Nonsynonymous SNV D505G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 222597 chr1 40627093 40627093 G C RLF Nonsynonymous SNV A8P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 222598 chr1 44441774 44441774 G A ATP6V0B Synonymous SNV E43E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 222599 chr5 140168289 140168289 T C rs782697190 PCDHA1 Nonsynonymous SNV F805S 0 0 0 2 0 0 0.005 0 0 0 0 0 6.969 222600 chr11 114569341 114569342 AC - NXPE2 T237Kfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 222601 chr1 45110704 45110704 G A rs762748541 RNF220 Nonsynonymous SNV E208K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 222602 chr10 17365146 17365146 G A rs150777747 ST8SIA6 Nonsynonymous SNV P216S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 222603 chr9 113276249 113276249 C T rs754818581 SVEP1 Nonsynonymous SNV A368T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 222604 chr9 125391108 125391108 G A OR1B1 Nonsynonymous SNV S236L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.5 222605 chr11 118828007 118828007 C G UPK2 Nonsynonymous SNV R100G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 222606 chr19 10091366 10091366 G A rs746650580 COL5A3 Synonymous SNV G854G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.835 222607 chr9 117143383 117143383 G A rs752873450 AKNA Synonymous SNV P77P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.439 222608 chr10 29821787 29821787 C T rs116774979 SVIL Synonymous SNV P503P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.34 222609 chr9 130630350 130630350 G A rs150064330 AK1 Synonymous SNV N190N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.486 222610 chr9 131669727 131669727 C T rs774023995 LRRC8A Nonsynonymous SNV T95I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 222611 chr19 11031736 11031736 C T rs763746802 CARM1 Synonymous SNV T516T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 222612 chr19 11097200 11097211 GGCCCTGGCCCT - rs1060502084 SMARCA4 G241_P244del 0.001 0 0 0 1 0 0 0 0 0 0 0 222613 chr9 134321950 134321950 A T rs766887021 PRRC2B Nonsynonymous SNV Q259L 0 0 0 1 0 0 0.003 0 0 0 0 0 22 222614 chr19 14268721 14268721 G A rs777050161 ADGRL1 Synonymous SNV F836F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.629 222615 chr9 133942501 133942501 C T rs541818567 LAMC3 Synonymous SNV C834C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 222616 chr10 50530755 50530755 G A rs376463812 C10orf71 Synonymous SNV V55V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.725 222617 chr9 134136680 134136680 C T rs536435250 FAM78A Synonymous SNV S127S 0 0 0.007 0 0 0 0 2 0 0 0 0 3.673 222618 chr5 158135144 158135144 G A rs142545369 EBF1 Synonymous SNV S470S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 222619 chr9 138456169 138456169 C T rs140935798 PAEP Synonymous SNV T108T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 7.614 222620 chr9 139235370 139235370 C T rs76978793 GPSM1 Nonsynonymous SNV A376V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.25 222621 chr9 135203756 135203756 C T rs145097270 SETX Nonsynonymous SNV D1077N 0.002 0 0.01 2 2 0 0.005 3 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 222622 chr5 167674934 167674934 G A rs114140599 TENM2 Synonymous SNV T2091T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.992 222623 chr5 168093479 168093479 C T rs111948103 SLIT3 Nonsynonymous SNV G1525S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 222624 chr10 61112161 61112161 G A rs143861434 FAM13C Nonsynonymous SNV P65S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 222625 chr9 139286443 139286443 G A rs61731233 SNAPC4 Nonsynonymous SNV A309V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 222626 chr9 139405649 139405649 C T rs35136134 NOTCH1 Nonsynonymous SNV E848K 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign/Likely benign 13.39 222627 chr9 136501598 136501598 C T rs140025171 DBH Synonymous SNV A35A 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 13 222628 chr5 171484461 171484461 C G STK10 Synonymous SNV L743L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 222629 chr1 86900293 86900293 C T rs751831701 CLCA2 Synonymous SNV I279I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.29 222630 chr1 36213640 36213640 G A rs146094023 CLSPN Nonsynonymous SNV P768L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28 222631 chr9 138830120 138830120 G C rs112505519 UBAC1 Nonsynonymous SNV I350M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 222632 chr10 70547757 70547757 A C rs761752782 CCAR1 Nonsynonymous SNV D970A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 222633 chr9 139405111 139405111 G A rs201620358 NOTCH1 Nonsynonymous SNV R912W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 222634 chr19 17417089 17417089 C T MRPL34 Synonymous SNV R60R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.425 222635 chr1 39341787 39341787 A G rs755193871 GJA9-MYCBP, LOC105378663 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.62 222636 chr1 39854267 39854267 G T rs947694801 MACF1 Nonsynonymous SNV E3189D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.695 222637 chr9 140446667 140446667 C T rs150240805 MRPL41 Nonsynonymous SNV T45I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.1 222638 chr9 140458935 140458935 G T rs373189839 DPH7 Synonymous SNV A166A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.961 222639 chr5 178410177 178410177 C T rs151103990 GRM6 Nonsynonymous SNV V724M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 222640 chr10 73045158 73045158 G A rs138539665 UNC5B Nonsynonymous SNV R175H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 30 222641 chr9 140070215 140070215 C G rs373177170 ANAPC2 Synonymous SNV L655L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.484 222642 chr10 73464874 73464874 G A rs373631099 CDH23 Synonymous SNV T980T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.35 222643 chr9 140173706 140173706 C T TOR4A Nonsynonymous SNV L189F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 222644 chr10 73563143 73563143 G A rs768688999 CDH23 Nonsynonymous SNV R373H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 222645 chr1 94543389 94543389 C T rs1800548 ABCA4 Nonsynonymous SNV E471K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.9 222646 chr10 75556623 75556623 G A ZSWIM8 Nonsynonymous SNV S1037N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 222647 chr9 140361789 140361789 G A rs779068396 PNPLA7 Nonsynonymous SNV R982W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 222648 chr10 79579728 79579728 C T rs752568305 DLG5 Nonsynonymous SNV E1151K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 222649 chr10 79581204 79581204 G A DLG5 Nonsynonymous SNV P1013L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 222650 chr10 79814712 79814712 C T rs887277964 RPS24 Nonsynonymous SNV H272Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 222651 chr12 10786691 10786691 C T rs139819909 STYK1 Nonsynonymous SNV V29I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.239 222652 chr9 14662319 14662319 C T rs61758381 ZDHHC21 Nonsynonymous SNV E87K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 222653 chr11 117321333 117321333 G C rs759229854 DSCAML1 Nonsynonymous SNV P1214A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26 222654 chr10 84118576 84118576 G C rs761240667 NRG3 Nonsynonymous SNV G302A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 222655 chr9 15307096 15307096 G C TTC39B Nonsynonymous SNV L76V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 222656 chr10 86131671 86131671 A G rs150621117 CCSER2 Nonsynonymous SNV Y288C 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 6.243 222657 chr1 47501743 47501743 C T CYP4X1 Synonymous SNV H224H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.224 222658 chr19 21476755 21476755 C T rs747212271 ZNF708 Nonsynonymous SNV C274Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 222659 chr9 32553882 32553882 G A rs200492335 NDUFB6 Nonsynonymous SNV H96Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 222660 chr10 94836344 94836344 A G CYP26A1 Nonsynonymous SNV E348G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 222661 chr9 34500819 34500819 C T DNAI1 Nonsynonymous SNV S338F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 222662 chr12 21681957 21681959 ACT - rs767995556 SPX L79del 0.001 0 0 0 1 0 0 0 0 0 0 0 222663 chr9 4844549 4844549 G T rs77526515 RCL1 Synonymous SNV L59L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.717 222664 chr11 125831648 125831648 C T rs200042535 CDON Nonsynonymous SNV G1201D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.292 222665 chr10 100182168 100182168 C T rs577892972 HPS1 Synonymous SNV S447S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.5 222666 chr9 74674164 74674164 G A rs1048198132 C9orf57 Synonymous SNV F50F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.505 222667 chr1 6214820 6214820 C T rs146685330 CHD5 Synonymous SNV A215A 0.001 0 0 0 1 0 0 0 0 0 0 0 15 222668 chr10 101455737 101455737 G A ENTPD7 Nonsynonymous SNV A290T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 222669 chr10 35929995 35929995 G A FZD8 Synonymous SNV L121L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.812 222670 chr11 129979341 129979341 C T rs149499091 APLP2 Synonymous SNV A41A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.2 222671 chr20 2781103 2781103 C A rs201928618 CPXM1 Nonsynonymous SNV G39V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.159 222672 chr20 2795796 2795796 A G rs141922354 C20orf141 0 0.003 0 0 0 1 0 0 0 0 0 0 10.33 222673 chr20 2797180 2797180 C T rs569112706 TMEM239 Nonsynonymous SNV L37F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.35 222674 chr20 29896328 29896328 T A DEFB116 Nonsynonymous SNV T21S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.881 222675 chr20 30070162 30070162 C T rs774049744 REM1 Stop gain R166X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 222676 chr10 103542621 103542621 G A rs748349202 NPM3 Nonsynonymous SNV A60V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.75 222677 chr9 90301593 90301593 G A rs750748509 DAPK1 Synonymous SNV P784P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 222678 chr9 91606438 91606438 G A C9orf47 Synonymous SNV R100R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.113 222679 chr5 159821107 159821107 A G rs199786578 ZBED8 Nonsynonymous SNV I464T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.929 222680 chr9 95258730 95258730 T C ECM2 Nonsynonymous SNV E634G 0 0 0.003 0 0 0 0 1 0 0 0 0 20 222681 chr10 48371339 48371339 G A ZNF488 Synonymous SNV L269L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.46 222682 chrM 958 958 C - RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 222683 chrX 105278339 105278339 A C SERPINA7 Nonsynonymous SNV S311A 0 0 0.007 0 0 0 0 2 0 0 1 0 24.6 222684 chr12 6560074 6560074 G A rs780709831 CD27 Synonymous SNV L184L 0.006 0 0 2 7 0 0.005 0 0 0 0 0 10.56 222685 chr20 36641408 36641408 G A TTI1 Synonymous SNV L271L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.142 222686 chr12 52284442 52284442 G A rs147394567 ANKRD33 Nonsynonymous SNV D44N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 222687 chr6 41739599 41739599 C T rs200943029 FRS3 Synonymous SNV S173S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.77 222688 chr12 6935873 6935873 G A rs782309960 GPR162 Nonsynonymous SNV R140Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.3 222689 chr6 42072879 42072879 G A rs755728475 C6orf132 Nonsynonymous SNV A924V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.494 222690 chr10 123279514 123279514 C T rs762804005 FGFR2 Synonymous SNV L191L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.68 222691 chrX 149013963 149013963 C T rs12010332 MAGEA8 Nonsynonymous SNV S306F 0 0 0.007 1 0 0 0.003 2 0 0 1 0 15.78 222692 chr12 9001406 9001406 C G A2ML1 Nonsynonymous SNV P151A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 222693 chr20 43057048 43057048 C T rs61737145 HNF4A Synonymous SNV N401N 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 10.77 222694 chr20 43344064 43344064 C T rs771827257 CCN5 Synonymous SNV A11A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.68 222695 chr12 53096893 53096893 C A rs771143626 KRT77 Nonsynonymous SNV G109V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.6 222696 chr6 43307837 43307837 A T rs143146213 ZNF318 Nonsynonymous SNV I1300N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 222697 chr6 43400496 43400496 G C ABCC10 Nonsynonymous SNV A217P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 222698 chr19 39914780 39914780 G A rs372208970 PLEKHG2 Nonsynonymous SNV A944T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 222699 chrX 152722674 152722674 C T rs146365634 HAUS7 Nonsynonymous SNV A133T 0 0 0.007 0 0 0 0 2 0 0 1 0 9.551 222700 chr10 124348622 124348622 C T rs189478437 DMBT1 Nonsynonymous SNV T639M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.034 222701 chr20 44038638 44038640 CCT - rs753850586 DBNDD2 S223del 0 0.003 0 0 0 1 0 0 0 0 0 0 222702 chr1 91978666 91978666 A G rs34979509 CDC7 Nonsynonymous SNV I208M 0.007 0 0 1 8 0 0.003 0 0 0 0 0 23.8 222703 chrX 2990073 2990073 C G rs150668857 ARSF Synonymous SNV P6P 0.002 0 0.02 0 2 0 0 6 1 0 3 0 Benign 3.561 222704 chr10 75532152 75532152 G A rs144665547 FUT11 Nonsynonymous SNV A21T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.654 222705 chr6 49582522 49582522 T C RHAG Nonsynonymous SNV I229V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.998 222706 chr20 49434750 49434750 G A rs377675495 BCAS4 Synonymous SNV A61A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.23 222707 chr12 11214161 11214161 T C rs756108410 TAS2R46 Nonsynonymous SNV I245V 0.003 0 0.014 0 4 0 0 4 0 0 0 0 0.001 222708 chr10 90524241 90524241 G - rs770938795 LIPN G101Efs*7 0 0 0.003 1 0 0 0.003 1 0 0 0 0 222709 chr19 44058921 44058921 G A rs200376594 XRCC1 Synonymous SNV S97S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.85 222710 chrX 84563194 84563194 C T rs75398746 POF1B Nonsynonymous SNV R329Q 0.003 0 0.007 2 4 0 0.005 2 1 0 1 1 Conflicting interpretations of pathogenicity 23.5 222711 chr12 13715903 13715903 G A GRIN2B Synonymous SNV A1423A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 3.883 222712 chr10 100219347 100219347 G T rs769652941 HPSE2 Nonsynonymous SNV A476D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 222713 chr10 98240196 98240196 C T rs200668317 TLL2 Nonsynonymous SNV A66T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 222714 chr12 80735899 80735899 T C rs1030322134 OTOGL Nonsynonymous SNV I1732T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 222715 chr12 80865886 80865886 C T rs112718610 PTPRQ Nonsynonymous SNV R176C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 222716 chr10 99130689 99130689 G A rs376528994 RRP12 Synonymous SNV P731P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.307 222717 chr12 80935411 80935411 G C rs7975340 PTPRQ Nonsynonymous SNV A906P 0.001 0 0.007 1 1 0 0.003 2 0 0 1 0 Benign 0.83 222718 chr12 7548829 7548829 C T CD163L1 Nonsynonymous SNV A648T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.036 222719 chr12 85638571 85638571 G A rs758366425 LRRIQ1 Nonsynonymous SNV R1674K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 222720 chr12 88465573 88465573 T C CEP290 Nonsynonymous SNV K1947R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 222721 chr10 100190396 100190396 G A rs150444975 HPS1 Synonymous SNV L147L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.12 222722 chr12 94620457 94620457 G A rs773053059 PLXNC1 Nonsynonymous SNV D623N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 222723 chr20 30585070 30585070 G C rs997398608 XKR7 Nonsynonymous SNV R517P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 222724 chr10 115668278 115668278 C T NHLRC2 Nonsynonymous SNV L722F 0 0 0.003 0 0 0 0 1 0 0 0 0 30 222725 chr10 116048996 116048996 G A rs376331052 VWA2 Nonsynonymous SNV V624I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.75 222726 chr10 105138209 105138209 A G TAF5 Nonsynonymous SNV I339V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 222727 chr12 102589202 102589202 T - PARPBP Y379Tfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 222728 chr6 110300834 110300834 G T rs79008323 GPR6 Synonymous SNV A173A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 10.5 222729 chr10 121551104 121551104 C A rs762753589 INPP5F Nonsynonymous SNV L131M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 222730 chr6 111527839 111527839 G A rs188894873 SLC16A10 Synonymous SNV E329E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.893 222731 chr21 18924189 18924189 A G rs61750981 CXADR Synonymous SNV Q111Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.567 222732 chr10 124380647 124380647 C T rs201883302 DMBT1 Stop gain R1030X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 222733 chr12 49434924 49434924 G A rs201190869 KMT2D Nonsynonymous SNV P2210L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign/Likely benign 7.23 222734 chr10 124712544 124712544 C A rs775038368 C10orf88 Nonsynonymous SNV D57Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 222735 chr6 117996902 117996902 C G rs568916715 NUS1 Synonymous SNV T23T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.503 222736 chr12 49743406 49743406 G A rs758547918 DNAJC22 Nonsynonymous SNV G251S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.23 222737 chr19 48800677 48800677 G T rs138262031 CCDC114 Synonymous SNV T523T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.132 222738 chr10 127520126 127520126 A G rs766630392 BCCIP Synonymous SNV R183R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.945 222739 chr6 126080669 126080669 C T rs144879330 HEY2 Synonymous SNV S245S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.071 222740 chr6 127476397 127476397 G A rs777896682 RSPO3 Nonsynonymous SNV V150I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.75 222741 chr10 121557126 121557126 A - INPP5F Y341Lfs*26 0 0 0 1 0 0 0.003 0 0 0 0 0 222742 chr19 49699740 49699740 C T rs769917929 TRPM4 Stop gain Q398X 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 222743 chr6 135521280 135521280 A G rs34119110 MYB Synonymous SNV T383T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 7.022 222744 chr10 124749818 124749818 C T PSTK Nonsynonymous SNV P336S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.662 222745 chr6 144086895 144086895 T C rs200791181 PHACTR2 Nonsynonymous SNV S318P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.74 222746 chr11 2424233 2424233 C T rs746739443 TSSC4 Nonsynonymous SNV R124W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.3 222747 chr10 126172826 126172826 G A rs375515711 LHPP Nonsynonymous SNV A82T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.931 222748 chr21 38850536 38850536 C T rs1049764 DYRK1A Synonymous SNV D49D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 12.26 222749 chr12 123706313 123706313 T G rs142774564 MPHOSPH9 Nonsynonymous SNV S160R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 222750 chr10 129903363 129903363 G A rs770582880 MKI67 Synonymous SNV D1887D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.858 222751 chr10 17363320 17363320 - T rs758746672 ST8SIA6 Frameshift insertion A252Sfs*40 0 0 0.003 0 0 0 0 1 0 0 0 0 222752 chr10 21097582 21097582 G A rs776191648 NEBL Nonsynonymous SNV A873V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 222753 chr10 21806053 21806053 - GCGGCG rs765891124 SKIDA1 A244_Y245insAA 0 0 0.007 0 0 0 0 2 0 0 0 0 222754 chr21 43896152 43896152 C T rs151158140 RSPH1 Nonsynonymous SNV G207R 0.001 0.008 0.003 1 1 3 0.003 1 0 0 0 0 Benign 23.5 222755 chr20 56265451 56265451 T C PMEPA1 Synonymous SNV G8G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.292 222756 chr10 24833280 24833280 - TG KIAA1217 Frameshift insertion S1695Vfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 222757 chr10 24833283 24833283 C G KIAA1217 Nonsynonymous SNV S1695C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 222758 chr10 24833286 24833287 AC - KIAA1217 N1696Kfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 222759 chr10 28409581 28409581 G A rs200243111 MPP7 Nonsynonymous SNV A211V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 222760 chr10 28409582 28409582 C G rs201024463 MPP7 Nonsynonymous SNV A211P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 222761 chr6 159065729 159065729 G A rs199975205 DYNLT1 Synonymous SNV Y4Y 0 0 0 2 0 0 0.005 0 0 0 0 0 7.443 222762 chr6 159188410 159188410 G A rs201524101 EZR Synonymous SNV G493G 0 0 0 2 0 0 0.005 0 0 0 0 0 2.075 222763 chr10 30336637 30336637 A C rs779105859 JCAD Synonymous SNV T35T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 222764 chr11 5423943 5423943 C T rs766612282 OR51J1 Synonymous SNV I39I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.001 222765 chr10 3189558 3189558 G A rs117161677 PITRM1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 5.669 222766 chr11 5510534 5510534 G A OR52D1 Nonsynonymous SNV V200I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.234 222767 chr10 33196013 33196013 C T rs374662002 ITGB1 Nonsynonymous SNV R797H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 222768 chr19 53473234 53473234 T C rs139998861 ZNF702P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.281 222769 chr12 57389723 57389723 C T rs140586219 GPR182 Nonsynonymous SNV R244W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 222770 chr6 162475189 162475189 A G PRKN Synonymous SNV D184D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.188 222771 chr21 47831713 47831713 C T rs781468861 PCNT Nonsynonymous SNV P1791L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 22.4 222772 chr6 166571924 166571924 G A rs182159312 TBXT Nonsynonymous SNV S338L 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 15.65 222773 chr22 17589509 17589509 T C rs369912474 IL17RA Nonsynonymous SNV L433P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.7 222774 chr13 32972760 32972760 G A rs28897762 BRCA2 Synonymous SNV R3370R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.759 222775 chr20 62297430 62297430 C T rs142711955 RTEL1 Synonymous SNV H204H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 14.67 222776 chr10 5948376 5948376 T G rs763885556 FBH1 Synonymous SNV G104G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 222777 chr22 24087115 24087115 T C rs142663701 ZNF70 Synonymous SNV S71S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.402 222778 chr13 49794807 49794807 C G rs199546202 MLNR Nonsynonymous SNV R112G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 222779 chr11 7081187 7081187 A G rs148159427 NLRP14 Nonsynonymous SNV N899S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 222780 chr11 7627239 7627239 C T rs76465494 PPFIBP2 Nonsynonymous SNV A17V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.535 222781 chr7 5521407 5521407 C T rs372831847 FBXL18 Synonymous SNV X619X 0 0 0 1 0 0 0.003 0 0 0 0 0 16.47 222782 chr11 8115610 8115610 C T rs764247631 TUB Nonsynonymous SNV L91F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 222783 chr22 30765421 30765421 G C CCDC157 Nonsynonymous SNV R83S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 222784 chr19 57133403 57133486 GCCTTCAGCCAGAACATGCACCTCATCGTGCACCAGCGCACGCACACCGGGGAGAAGCCGTACGTGTGCCCCGAGTGCGGGCGA - ZNF71 I258_L285del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 222785 chr22 31013393 31013393 C G rs35997415 TCN2 Synonymous SNV L339L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 7.426 222786 chr10 74684046 74684046 G A rs545811191 OIT3 Synonymous SNV P337P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.244 222787 chr11 3722026 3722026 A C rs765612908 NUP98 Nonsynonymous SNV L1139V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.6 222788 chr11 3838654 3838654 C T rs752175187 PGAP2 Synonymous SNV R79R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 222789 chr10 81061965 81061965 G A rs147620775 ZMIZ1 Synonymous SNV T707T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.657 222790 chr13 109792631 109792631 G A rs148053385 MYO16 Synonymous SNV P1357P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.82 222791 chr22 37333900 37333900 G C rs150659075 CSF2RB Nonsynonymous SNV G684R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.49 222792 chr22 37603231 37603231 G A rs373059813 SSTR3 Synonymous SNV A204A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.984 222793 chr7 23224776 23224776 G C rs766461516 NUP42 Nonsynonymous SNV G70A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 222794 chr12 113818599 113818599 C T rs78496923 PLBD2 Synonymous SNV P303P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.01 222795 chr22 38382185 38382185 C T rs554760896 POLR2F Synonymous SNV P106P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.87 222796 chr10 94654752 94654752 A G rs374973254 EXOC6 Synonymous SNV V129V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.369 222797 chr10 94821205 94821205 C A rs755174603 CYP26C1 Nonsynonymous SNV T62K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 222798 chr14 20345047 20345047 G A rs146620419 OR4K2 Synonymous SNV A207A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 222799 chr12 120660407 120660407 G A rs761141445 PXN Nonsynonymous SNV R214W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 222800 chr10 94834553 94834553 C T rs60549655 CYP26A1 Synonymous SNV F144F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 8.712 222801 chr22 41605647 41605647 G T rs748529662 L3MBTL2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.504 222802 chr11 26664849 26664849 G A rs756025616 ANO3 Nonsynonymous SNV R653Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 222803 chr21 47545949 47545949 T C rs61735830 COL6A2 Synonymous SNV D740D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.036 222804 chr11 5602374 5602374 G A rs777870419 OR52B6 Nonsynonymous SNV D90N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 222805 chr10 99003772 99003772 C T rs778966332 ARHGAP19 Nonsynonymous SNV V351I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 222806 chr11 32417943 32417943 C T rs554416372 WT1 Nonsynonymous SNV R358H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 222807 chr11 32610160 32610160 A G rs373074345 EIF3M Nonsynonymous SNV S66G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.6 222808 chr11 32954851 32954851 G A rs773414629 QSER1 Nonsynonymous SNV V683M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 222809 chr7 40498796 40498796 C T rs137852860 SUGCT Nonsynonymous SNV R288W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 222810 chr19 8563484 8563484 C T rs375102545 PRAM1 Nonsynonymous SNV R403Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 222811 chr7 44561344 44561344 G A rs149782907 NPC1L1 Nonsynonymous SNV P974S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.692 222812 chr7 44612513 44612513 G T rs761290969 DDX56 Nonsynonymous SNV A120D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.94 222813 chr14 23993716 23993716 A G rs984750785 ZFHX2 Nonsynonymous SNV F1812S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 222814 chr19 875395 875395 C T rs61755331 MED16 Synonymous SNV T540T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.67 222815 chr7 45122058 45122058 G T rs552765962 NACAD Nonsynonymous SNV P1241T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 222816 chr19 8841391 8841391 A G rs139999731 OR2Z1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 222817 chr7 45124349 45124349 T C NACAD Nonsynonymous SNV Q477R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.203 222818 chr11 6579918 6579918 - T DNHD1 Stop gain D3070* 0 0 0 1 0 0 0.003 0 0 0 0 0 222819 chr14 24901585 24901585 G T KHNYN Nonsynonymous SNV R414L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 222820 chr12 132624263 132624263 G A rs201788373 DDX51 Nonsynonymous SNV R631W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.1 222821 chr22 50721295 50721295 C T rs202205385 PLXNB2 Synonymous SNV A944A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.57 222822 chr22 50894989 50894989 G A rs771620522 SBF1 Nonsynonymous SNV P1315S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.079 222823 chr7 65705694 65705694 C T rs188350001 TPST1 Synonymous SNV D94D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.846 222824 chr19 9066343 9066343 C T rs973978069 MUC16 Nonsynonymous SNV G7035S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.291 222825 chr2 103053790 103053790 C T IL18RAP Nonsynonymous SNV T233I 0 0.005 0 0 0 2 0 0 0 1 0 0 6.4 222826 chr14 34269013 34269013 G C rs146419048 NPAS3 Synonymous SNV R470R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.822 222827 chr11 108389055 108389055 T C EXPH5 Nonsynonymous SNV S24G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 222828 chr13 28494346 28494346 C T rs921718972 PDX1 Nonsynonymous SNV P24L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.93 222829 chr2 112705097 112705097 G A rs199707021 MERTK Nonsynonymous SNV R237H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 14.5 222830 chr13 32972743 32972743 G C BRCA2 Nonsynonymous SNV V3365L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 222831 chr14 51288678 51288678 G A NIN Nonsynonymous SNV L33F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 222832 chr11 116628623 116628623 T C rs374136726 BUD13 Nonsynonymous SNV M381V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 222833 chr11 18731905 18731905 T A rs114511413 IGSF22 Synonymous SNV P890P 0 0 0 2 0 0 0.005 0 0 0 0 0 12.37 222834 chr13 41515118 41515118 C T rs34905611 ELF1 Nonsynonymous SNV E375K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 222835 chr11 18739504 18739504 C T rs148169388 IGSF22 Nonsynonymous SNV R316Q 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 222836 chr11 18739512 18739512 G A rs117464702 IGSF22 Synonymous SNV G313G 0 0 0 2 0 0 0.005 0 0 0 0 0 12.2 222837 chr11 18739517 18739517 C T rs144047530 IGSF22 Nonsynonymous SNV V312M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 222838 chr22 32914251 32914251 T A SYN3 Synonymous SNV P462P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.248 222839 chr11 118342684 118342684 T C rs144694397 KMT2A Synonymous SNV I270I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.075 222840 chr2 121744110 121744110 A G GLI2 Nonsynonymous SNV K596R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.63 222841 chr11 120686076 120686076 G A rs372463256 LOC105369532 0 0 0.003 0 0 0 0 1 0 0 0 0 4.534 222842 chr11 120996316 120996316 C T rs61733565 TECTA Synonymous SNV C503C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.72 222843 chr2 133542000 133542000 T C rs370409499 NCKAP5 Nonsynonymous SNV Y795C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.281 222844 chr11 36248930 36248930 G A rs140347483 LDLRAD3 Synonymous SNV A201A 0 0 0 2 0 0 0.005 0 0 0 0 0 10.38 222845 chr22 39078007 39078007 C G rs560841101 TOMM22 Synonymous SNV A8A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 222846 chr13 74420000 74420000 C T rs375091947 KLF12 Nonsynonymous SNV V212M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 222847 chr2 136481760 136481760 G A rs777250046 R3HDM1 Synonymous SNV Q938Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.094 222848 chr2 144966285 144966285 G T rs116177854 GTDC1 Nonsynonymous SNV Q22K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.2 222849 chr7 100551431 100551431 A G MUC3A Nonsynonymous SNV D671G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 222850 chr11 124413249 124413249 A G OR8B12 Nonsynonymous SNV F101S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 222851 chr6 78538656 78538656 G A rs538131696 MEI4 Synonymous SNV V259V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 11.47 222852 chr11 124856702 124856704 AAG - CCDC15 E274del 0 0 0.003 0 0 0 0 1 0 0 0 0 222853 chr13 99512723 99512723 C G rs76695968 DOCK9 Synonymous SNV P1212P 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 9.963 222854 chr11 124951767 124951767 G A rs143239155 SLC37A2 Nonsynonymous SNV A284T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.746 222855 chr2 152536533 152536533 C T rs765248215 NEB Nonsynonymous SNV A1016T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 222856 chr2 152586146 152586146 C T rs199907781 NEB Nonsynonymous SNV E21K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.9 222857 chr14 77493794 77493794 - TGC rs71125518 IRF2BPL Q127_L128insQ 0.001 0 0 2 1 0 0.005 0 0 0 0 0 222858 chr2 166788283 166788283 G A rs770758427 TTC21B Synonymous SNV L293L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 222859 chr1 145498565 145498565 C A LIX1L Synonymous SNV A267A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 222860 chr7 100491700 100491700 G T rs375017123 ACHE Nonsynonymous SNV R52S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.542 222861 chr1 147087696 147087696 G A rs143819239 BCL9 Synonymous SNV A218A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 222862 chr1 150236268 150236268 G A CA14 Nonsynonymous SNV R313K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.2 222863 chr1 150967129 150967129 C A ANXA9 Nonsynonymous SNV A310D 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 222864 chr11 18497106 18497106 G A rs201642140 LDHAL6A Nonsynonymous SNV R171H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 222865 chr14 20529055 20529055 G A rs148682952 OR4L1 Synonymous SNV P284P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.323 222866 chr11 18765666 18765666 G A rs371701107 PTPN5 Nonsynonymous SNV P36S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 222867 chr1 151414675 151414675 C T rs777541192 POGZ Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 222868 chr11 56510707 56510707 C G OR9G4 Nonsynonymous SNV C194S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 222869 chr1 153043131 153043131 G T rs771177680 SPRR2B Nonsynonymous SNV P62H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 222870 chr1 153580139 153580139 C G rs139513771 S100A16 Nonsynonymous SNV K61N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 222871 chr1 156352567 156352567 G A RHBG Nonsynonymous SNV E381K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.875 222872 chr2 183104927 183104927 C T rs761155078 PDE1A Nonsynonymous SNV R69Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 222873 chr11 62763248 62763248 G A rs11568481 SLC22A8 Nonsynonymous SNV A187V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.02 222874 chr11 63585749 63585749 C T rs148120037 SPINDOC Synonymous SNV A173A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.65 222875 chr15 41149033 41149033 G C rs760163087 SPINT1 Nonsynonymous SNV G468R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 222876 chr11 4566718 4566718 T C rs61747646 OR52M1 Synonymous SNV L100L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 222877 chr11 57003768 57003768 G A rs771621395 APLNR Synonymous SNV I237I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.49 222878 chr11 57087715 57087715 A C TNKS1BP1 Nonsynonymous SNV F189C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 222879 chr2 1926269 1926269 G A rs553083381 MYT1L Synonymous SNV F424F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.872 222880 chr11 47598991 47598991 G A rs748433951 KBTBD4 Synonymous SNV P236P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 222881 chr11 47774478 47774478 T C FNBP4 Synonymous SNV S211S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.052 222882 chr11 65352948 65352950 CTT - rs765178855 EHBP1L1 F516del 0 0.003 0 0 0 1 0 0 0 0 0 0 222883 chr7 120655722 120655722 A G CPED1 Nonsynonymous SNV K85E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 222884 chr2 202356247 202356249 TTG - rs763603795 C2CD6 N1607del 0 0.003 0 0 0 1 0 0 0 0 0 0 222885 chr11 66249873 66249873 C T rs200361217 DPP3 Nonsynonymous SNV R68C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26 222886 chr11 67265665 67265665 C T rs150154257 PITPNM1 Nonsynonymous SNV R538H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 222887 chr7 150747234 150747234 C T rs548400225 ASIC3 Synonymous SNV G192G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.42 222888 chr7 129962358 129962358 G A rs1041984459 CPA4 Nonsynonymous SNV A337T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 222889 chr1 16258764 16258764 G A rs530603850 SPEN Nonsynonymous SNV R2010H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.3 222890 chr11 61291925 61291925 G A rs772508170 SYT7 Synonymous SNV P330P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 222891 chr7 151046296 151046296 C T rs763960622 NUB1 Synonymous SNV I109I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.64 222892 chr15 43622266 43622266 C G rs375100125 LCMT2 Nonsynonymous SNV R141T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 222893 chr2 161029228 161029228 C T ITGB6 Stop gain W163X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 222894 chr11 62288978 62288978 T C rs11828907 AHNAK Nonsynonymous SNV D4304G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.6 222895 chr11 62290702 62290702 C T rs73500265 AHNAK Synonymous SNV K3729K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.64 222896 chr11 62291029 62291029 A G rs115138639 AHNAK Synonymous SNV P3620P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 222897 chr11 62343130 62343130 G C rs34320415 TUT1 Nonsynonymous SNV D687E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.001 222898 chr7 155493499 155493499 C T rs143834128 RBM33 Synonymous SNV D200D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.664 222899 chr11 62496545 62496545 T C rs58792209 TTC9C Synonymous SNV Y75Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.092 222900 chr11 62601393 62601393 A G rs73487823 WDR74 Synonymous SNV C264C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.03 222901 chr11 62752014 62752014 C T rs11568626 SLC22A6 Nonsynonymous SNV R50H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26 222902 chr14 64699900 64699900 C T rs150646898 ESR2 Synonymous SNV E425E 0.003 0 0 0 4 0 0 0 0 0 0 0 12.57 222903 chr7 137801408 137801408 A G AKR1D1 X286W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.15 222904 chr14 68151864 68151864 C T rs115157926 RDH11 Nonsynonymous SNV R171Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 222905 chr11 63996730 63996730 G A rs35448954 NUDT22 Synonymous SNV P164P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.21 222906 chr15 63000854 63000854 G A rs139110889 TLN2 Nonsynonymous SNV V776M 0 0 0 1 0 0 0.003 0 0 0 0 0 23 222907 chr14 73729247 73729247 G A rs149453915 PAPLN Nonsynonymous SNV R812H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 222908 chr11 64606233 64606233 C T rs78215649 CDC42BPG Nonsynonymous SNV V340M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.4 222909 chr11 64627752 64627752 G A rs77426065 EHD1 Synonymous SNV L187L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 10.84 222910 chr11 76867721 76867721 C T rs367687624 MYO7A Synonymous SNV A162A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.937 222911 chr15 57931726 57931726 A C rs759896761 GCOM1, MYZAP Nonsynonymous SNV K368Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 222912 chr1 17350561 17350561 G A SDHB Synonymous SNV L183L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.27 222913 chr11 77961394 77961394 A G rs34961678 GAB2 Synonymous SNV A105A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.252 222914 chr11 65414246 65414246 C T rs568637009 SIPA1 Synonymous SNV L581L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 222915 chr14 77948802 77948802 T C rs766940082 ISM2 Nonsynonymous SNV D279G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.589 222916 chr15 63055872 63055872 C T rs147117916 TLN2 Nonsynonymous SNV T1691M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.1 222917 chr15 63893639 63893639 C T rs200346233 FBXL22 Synonymous SNV A166A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.13 222918 chr14 79181102 79181102 C G NRXN3 Nonsynonymous SNV T182S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21 222919 chr11 65810869 65810869 C T rs3814743 GAL3ST3 Synonymous SNV A135A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.005 222920 chr15 64231505 64231505 A G rs551687423 DAPK2 Nonsynonymous SNV I170T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 222921 chr15 65308848 65308848 C T rs201616830 MTFMT Nonsynonymous SNV G247S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 222922 chr11 66335540 66335540 G A rs766461599 CTSF Nonsynonymous SNV S76L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 222923 chr1 180153180 180153180 A G QSOX1 Synonymous SNV A294A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.795 222924 chr11 66625224 66625224 G A rs112634850 LRFN4 Synonymous SNV P3P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.948 222925 chr11 92702929 92702929 C T rs377415898 MTNR1B Nonsynonymous SNV A13V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.475 222926 chr15 65688452 65688452 C T IGDCC4 Synonymous SNV A349A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.19 222927 chr7 150746007 150746007 G A rs532400592 ASIC3 Nonsynonymous SNV R12Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.354 222928 chr11 67201902 67201902 G A rs55642995 RPS6KB2 Nonsynonymous SNV V368M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 222929 chr11 67260525 67260525 C T rs113226340 PITPNM1 Synonymous SNV L1116L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.95 222930 chr11 67378584 67378584 C T rs150859374 NDUFV1 Synonymous SNV T264T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.39 222931 chr11 67379016 67379016 T C rs11227859 NDUFV1 Synonymous SNV A343A 0.002 0 0 5 2 0 0.013 0 0 0 0 0 Benign 0.304 222932 chr15 66811250 66811250 T A ZWILCH Nonsynonymous SNV N4K 0.003 0 0 0 3 0 0 0 0 0 0 0 27.3 222933 chr2 230841056 230841056 C T rs200544029 FBXO36 Nonsynonymous SNV H66Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.133 222934 chr15 72190736 72190736 G A rs747290915 MYO9A Nonsynonymous SNV R1370W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 222935 chr11 103062884 103062884 C T DYNC2H1 Synonymous SNV R2533R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.1 222936 chr2 23785333 23785333 G A rs72780344 KLHL29 Synonymous SNV A89A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.16 222937 chr11 75431163 75431163 C T rs750257125 MOGAT2 Nonsynonymous SNV A73V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.07 222938 chr2 239092714 239092714 A T ILKAP Synonymous SNV L191L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.116 222939 chr2 24046344 24046344 G A rs764478366 ATAD2B Synonymous SNV L639L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.691 222940 chr11 60173420 60173420 T C rs910970519 MS4A14 Nonsynonymous SNV I159T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 222941 chr8 38091917 38091917 G T rs141644282 DDHD2 Nonsynonymous SNV G76C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 23.5 222942 chr8 38091918 38091918 G A rs150361106 DDHD2 Nonsynonymous SNV G76D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 9.276 222943 chr11 61505189 61505189 C T rs202095436 DAGLA Synonymous SNV F515F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.97 222944 chr7 31594093 31594093 T C rs774028957 ITPRID1 Synonymous SNV D56D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.47 222945 chr2 242794462 242794462 G C rs370660750 PDCD1 Synonymous SNV P160P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.811 222946 chr15 27018833 27018833 C T GABRB3 Stop gain W13X 0.002 0 0 0 2 0 0 0 0 0 0 0 19.32 222947 chr2 25610243 25610243 C T rs369824055 DTNB Synonymous SNV T369T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.26 222948 chr11 94592780 94592780 G A rs200136415 AMOTL1 Nonsynonymous SNV A629T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 222949 chr11 62623289 62623289 G A rs569995307 SNHG1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.324 222950 chr2 27728609 27728609 C G rs138410297 GCKR Nonsynonymous SNV R259G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 222951 chr8 77690641 77690641 C T rs375999260 ZFHX4 Synonymous SNV I1097I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.19 222952 chr15 35222531 35222531 A G rs781289219 AQR Synonymous SNV N314N 0.003 0 0 0 3 0 0 0 0 0 0 0 8.55 222953 chr7 44099018 44099018 C A rs752627723 DBNL Nonsynonymous SNV P198T 0.003 0 0 4 4 0 0.01 0 0 0 0 0 13.05 222954 chr7 44193004 44193004 C T GCK Nonsynonymous SNV R35K 0.003 0 0 4 4 0 0.01 0 0 0 0 0 11.74 222955 chr2 32740114 32740114 T C rs760579082 BIRC6 Synonymous SNV V3542V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.363 222956 chr15 90744776 90744776 C G rs748984820 SEMA4B Nonsynonymous SNV P42R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.551 222957 chr11 124545201 124545201 A T rs753028777 SPA17 Nonsynonymous SNV Q14L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 222958 chr11 65211735 65211750 TGTGTGTGTGTGTGTG - NEAT1 0 0 0.007 0 0 0 0 2 0 0 0 0 222959 chr11 65482163 65482163 C T rs781377393 KAT5 Synonymous SNV C244C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 222960 chr11 65546588 65546588 C T rs766604128 AP5B1 Nonsynonymous SNV R459Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 222961 chr1 210856885 210856885 C T rs367722512 KCNH1 Nonsynonymous SNV R876Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 19.48 222962 chr1 212799391 212799391 C T rs569094271 FAM71A Nonsynonymous SNV A391V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.551 222963 chr11 66082636 66082636 C T rs140631903 CD248 Synonymous SNV L621L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.69 222964 chr2 222436909 222436909 G A rs187351598 EPHA4 Synonymous SNV V20V 0.003 0 0 0 4 0 0 0 0 0 0 0 13.04 222965 chr11 66192552 66192552 C T rs373471257 NPAS4 Nonsynonymous SNV P521S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 222966 chr8 117783993 117783995 CTT - rs113693140 UTP23 S222del 0 0 0.014 1 0 0 0.003 4 0 0 0 0 222967 chr16 20976671 20976671 T A rs138441375 DNAH3 Synonymous SNV T2799T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.112 222968 chr11 67201881 67201881 C T rs146762475 RPS6KB2 Nonsynonymous SNV R361C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 222969 chr11 119020858 119020858 C T rs139736013 ABCG4 Synonymous SNV I61I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 222970 chr11 6738100 6738100 G A rs141171319 GVINP1 0 0 0.01 0 0 0 0 3 0 0 0 0 11.01 222971 chr8 126059526 126059526 G A WASHC5 Synonymous SNV P661P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.76 222972 chr2 63272166 63272166 C T LOC100132215 0 0.003 0 0 0 1 0 0 0 0 0 0 8.186 222973 chr8 130788466 130788466 C A rs79403769 GSDMC Nonsynonymous SNV G96C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.49 222974 chr2 69049765 69049765 A G rs138790591 ARHGAP25 Synonymous SNV Q491Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.758 222975 chr7 7529086 7529086 T G rs749761236 COL28A1 Synonymous SNV G366G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.66 222976 chr16 633550 633550 C G rs200778529 PIGQ Synonymous SNV T733T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.526 222977 chr2 232262901 232262901 G C B3GNT7 Nonsynonymous SNV W157C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 222978 chr8 134232859 134232859 C T rs199909788 CCN4 Nonsynonymous SNV R129C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.9 222979 chr11 123814303 123814303 C T rs777093132 OR6T1 Nonsynonymous SNV M81I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 222980 chr8 142228191 142228191 G A rs929717112 SLC45A4 Synonymous SNV L465L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.619 222981 chr1 228462010 228462010 G A OBSCN Nonsynonymous SNV V1850M 0.001 0 0 0 1 0 0 0 0 0 0 0 13 222982 chr11 72466770 72466770 T C rs377466107 STARD10 Synonymous SNV K202K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 222983 chr15 59064031 59064031 C A MINDY2 Nonsynonymous SNV A146D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.628 222984 chr12 7125710 7125710 C A rs782258153 LPCAT3 Nonsynonymous SNV G7W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 222985 chr2 85032868 85032868 A G rs192646174 DNAH6 Nonsynonymous SNV N3854S 0.002 0.005 0 1 2 2 0.003 0 0 1 0 0 Likely benign 13.11 222986 chr15 65386878 65386878 G A rs560971925 UBAP1L Nonsynonymous SNV R316C 0.006 0.003 0 0 7 1 0 0 0 0 0 0 25.7 222987 chr1 231396316 231396316 G A GNPAT Nonsynonymous SNV E48K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 222988 chr7 99022581 99022581 G A rs372661598 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV T525M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 222989 chr11 130131283 130131283 G A rs201725052 ZBTB44 Synonymous SNV P162P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.381 222990 chr16 2290002 2290005 CTCT - rs770405924 ECI1 E278Gfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 222991 chr1 233514950 233514950 T G rs745954284 MAP3K21 Nonsynonymous SNV V733G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 222992 chr11 133789897 133789897 C T rs201741561 IGSF9B Synonymous SNV P1241P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.431 222993 chr2 98349613 98349613 C T rs754055723 ZAP70 Nonsynonymous SNV A243V 0 0.005 0 0 0 2 0 0 0 1 0 0 25.7 222994 chr2 99909003 99909003 G C LYG1 Stop gain Y48X 0 0.005 0 0 0 2 0 0 0 1 0 0 36 222995 chr3 100093896 100093896 G A rs140101095 TOMM70 Nonsynonymous SNV P398L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 31 222996 chr3 100962917 100962917 G A rs200818740 IMPG2 Nonsynonymous SNV S753L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.451 222997 chr1 24125150 24125152 CTC - GALE E64del 0.001 0 0 0 1 0 0 0 0 0 0 0 222998 chr12 12939974 12939974 G A rs563219364 APOLD1 Synonymous SNV L76L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.415 222999 chr16 4731679 4731679 G A rs373817414 MGRN1 Synonymous SNV S398S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.449 223000 chr3 108117545 108117545 C T rs372228730 MYH15 Nonsynonymous SNV R1711H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 223001 chr12 5153772 5153772 G A rs753288400 KCNA5 Synonymous SNV L153L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.54 223002 chr12 5153773 5153773 C A rs756977657 KCNA5 Nonsynonymous SNV R154S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.8 223003 chr3 108635055 108635055 G C rs928931571 GUCA1C Nonsynonymous SNV Q121E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.876 223004 chr12 6748142 6748142 A - ACRBP L496Rfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 223005 chr12 104119910 104119910 C T rs763542424 STAB2 Nonsynonymous SNV P1607L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 24.6 223006 chr12 104309025 104309025 G C rs73177920 TTC41P 0 0 0.024 0 0 0 0 7 0 0 0 0 0.014 223007 chr12 104309026 104309026 G A rs73177921 TTC41P 0 0 0.024 0 0 0 0 7 0 0 0 0 0.774 223008 chr1 248185524 248185524 C T OR2L5 Nonsynonymous SNV S92F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 223009 chr12 109937519 109937519 C T rs201028903 UBE3B Nonsynonymous SNV T341M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.4 223010 chr15 89719088 89719088 C T rs781555313 ABHD2 Nonsynonymous SNV T195I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 223011 chr12 110226506 110226506 A G rs1038202857 TRPV4 Nonsynonymous SNV L529P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.3 223012 chr2 44586706 44586706 T A rs78349078 PREPL Nonsynonymous SNV K50M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25 223013 chr15 90196066 90196066 G A rs368482949 KIF7 Synonymous SNV H32H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 8.863 223014 chr12 11905439 11905441 CGA - ETV6 T31del 0 0 0.003 0 0 0 0 1 0 0 0 0 223015 chr16 30021389 30021389 G T DOC2A Nonsynonymous SNV A52D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 223016 chr12 51512417 51512417 C T rs371462022 TFCP2 Synonymous SNV T87T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 223017 chr3 126226625 126226625 G A rs34488036 UROC1 Nonsynonymous SNV R188W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.6 223018 chr3 128127082 128127082 C T rs558222018 EEFSEC Nonsynonymous SNV R591C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 223019 chr12 122208843 122208843 C T rs200861818 TMEM120B Synonymous SNV Y194Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 223020 chr12 26709168 26709168 C T rs191789657 ITPR2 Synonymous SNV S1654S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.45 223021 chr3 128651690 128651690 T C rs184820837 KIAA1257 Synonymous SNV L577L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 223022 chr12 52778943 52778943 T A rs748428905 KRT84 Nonsynonymous SNV N143Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 223023 chr16 83999032 83999032 C T rs144301439 OSGIN1 Nonsynonymous SNV S285L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.63 223024 chr12 123089451 123089451 T G KNTC1 Nonsynonymous SNV L1735V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 223025 chr15 101170149 101170149 C T rs371239685 ASB7 Nonsynonymous SNV T240M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 223026 chr16 48395436 48395436 A G LONP2 Nonsynonymous SNV I884V 0.001 0 0 0 1 0 0 0 0 0 0 0 11 223027 chr16 779362 779362 C T HAGHL Nonsynonymous SNV A252V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 223028 chr9 91965577 91965577 G A rs41288139 SECISBP2 Synonymous SNV V572V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.74 223029 chr12 12977572 12977572 A G rs137865216 DDX47 Synonymous SNV V283V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.563 223030 chr2 73448333 73448333 A G rs199565933 SMYD5 Nonsynonymous SNV M170V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 223031 chr9 95527009 95527009 C T BICD2 Synonymous SNV E6E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 223032 chr12 48501229 48501229 C T PFKM Stop gain Q25X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 223033 chr12 48535113 48535113 G A PFKM Nonsynonymous SNV S454N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.18 223034 chr12 53585766 53585766 G A rs370893853 ITGB7 Synonymous SNV C731C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.33 223035 chr3 14176363 14176363 A G TMEM43 Nonsynonymous SNV Y226C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 223036 chr16 88788009 88788009 G C rs372159659 PIEZO1 Nonsynonymous SNV D1780E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 223037 chr8 17867130 17867130 G A rs140846217 PCM1 Synonymous SNV V1616V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 223038 chr8 20038445 20038445 G T rs117666725 SLC18A1 Synonymous SNV R11R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.155 223039 chr8 20069660 20069660 T C rs376378032 ATP6V1B2 Synonymous SNV N251N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.83 223040 chr16 3100060 3100060 G A rs149544499 MMP25 Nonsynonymous SNV V95M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.975 223041 chr16 3139497 3139497 G A rs148500576 ZSCAN10 Synonymous SNV S252S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 4.222 223042 chr12 56487162 56487162 G A rs2229045 ERBB3 Synonymous SNV L436L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.78 223043 chr1 45796891 45796893 TCC - rs587778541 MUTYH E337del 0.002 0 0 0 2 0 0 0 0 0 0 0 223044 chr16 3458382 3458382 A G rs769557648 ZNF174 Synonymous SNV A229A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.225 223045 chr16 3658722 3658722 T C rs202237877 SLX4 Nonsynonymous SNV N82D 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 0.015 223046 chr12 57619446 57619446 C G rs139684967 NXPH4 Synonymous SNV V281V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.713 223047 chr12 53085087 53085087 C T rs543787765 KRT77 Synonymous SNV R533R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.9 223048 chr12 53085091 53085091 C A rs200729891 KRT77 Nonsynonymous SNV G532V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 223049 chr8 23153488 23153488 C T rs376327043 R3HCC1 Nonsynonymous SNV R401C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 223050 chr12 53097083 53097083 C A rs111504070 KRT77 Nonsynonymous SNV G46C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 223051 chr3 160155807 160155807 T C rs779778804 TRIM59 Nonsynonymous SNV I389V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 223052 chr12 53227899 53227899 T C rs112108733 KRT79 Nonsynonymous SNV H49R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 223053 chr12 53233688 53233688 G A rs61764060 KRT78 Synonymous SNV D266D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 2.362 223054 chr8 25232165 25232165 C T rs141398609 DOCK5 Synonymous SNV L1271L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 223055 chr1 52859391 52859391 G A rs61753390 ORC1 Nonsynonymous SNV S269L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 23 223056 chr12 53663073 53663073 C T rs2364600 ESPL1 Nonsynonymous SNV A116V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 223057 chr3 172353719 172353719 G T NCEH1 Nonsynonymous SNV A66D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 223058 chr3 113049189 113049189 A T rs187266046 CFAP44 Nonsynonymous SNV D1314E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.003 223059 chr12 49412082 49412082 G A rs749997246 DDN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.454 223060 chr12 49426185 49426185 C G rs1054533530 KMT2D Nonsynonymous SNV Q4101H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 223061 chr12 49912918 49912918 G A SPATS2 Nonsynonymous SNV V321I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 223062 chr12 49997003 49997003 G C rs775742863 FAM186B Nonsynonymous SNV S157C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 223063 chr12 80761489 80761489 A G OTOGL Synonymous SNV T2151T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.573 223064 chr12 56079031 56079031 C A rs565075865 ITGA7 Synonymous SNV V627V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.82 223065 chr12 94543526 94543526 G C rs200619004 PLXNC1 Nonsynonymous SNV G260A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.36 223066 chr9 125642317 125642317 G A rs199593875 RC3H2 Synonymous SNV L350L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.946 223067 chr12 57872525 57872525 T C rs748784591 ARHGAP9 Nonsynonymous SNV H111R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 223068 chr12 57960973 57960973 C T rs140144799 KIF5A Nonsynonymous SNV S100L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23 223069 chr16 23721865 23721865 C T rs9932495 ERN2 Nonsynonymous SNV V69I 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 Benign 6.895 223070 chr16 24583368 24583368 A G rs151180469 RBBP6 Nonsynonymous SNV I1627V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 223071 chr12 101588903 101588903 C T rs751874728 SLC5A8 Synonymous SNV T169T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 223072 chr9 129595449 129595449 G A rs747400108 ZBTB43 Nonsynonymous SNV D221N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 223073 chr12 64377797 64377797 C T SRGAP1 Synonymous SNV L46L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 223074 chr3 124174094 124174094 C T rs771412100 KALRN Nonsynonymous SNV A1156V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 223075 chr1 6649121 6649121 C T rs766873713 ZBTB48 Nonsynonymous SNV A639V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 223076 chr12 69233334 69233334 A G rs753298202 MDM2 Nonsynonymous SNV Y198C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.96 223077 chr12 105551095 105551095 A T rs748913382 WASHC4 Synonymous SNV A970A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.455 223078 chr1 76397850 76397850 A G rs201319157 ASB17 Nonsynonymous SNV Y43H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 223079 chr12 109527883 109527883 A T ALKBH2 Nonsynonymous SNV V137D 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 223080 chr12 110252355 110252355 T A TRPV4 Nonsynonymous SNV I83F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 223081 chr3 196388101 196388101 G A rs200227167 NRROS Synonymous SNV A529A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.946 223082 chr3 12857413 12857413 C G rs200578477 CAND2 Nonsynonymous SNV S356R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 223083 chr16 48333635 48333635 C T rs140425509 LONP2 Stop gain Q489X 0.003 0.005 0 0 4 2 0 0 0 0 0 0 43 223084 chr12 56641281 56641281 C T ANKRD52 Nonsynonymous SNV R727H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 223085 chr12 57115232 57115232 T G rs367875595 NACA Nonsynonymous SNV M28L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 223086 chr12 81112680 81112680 C T MYF5 Synonymous SNV C206C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.4 223087 chr12 118460133 118460133 G T rs373445531 RFC5 Nonsynonymous SNV M130I 0 0.003 0 0 0 1 0 0 0 0 0 0 31 223088 chr16 57805245 57805245 G T KIFC3 Nonsynonymous SNV D108E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.32 223089 chr9 135932218 135932218 G A GTF3C5 Nonsynonymous SNV C265Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 27.3 223090 chr16 66514692 66514692 C G rs533744789 BEAN1 Nonsynonymous SNV P106R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 223091 chr12 675142 675142 A G rs150149790 NINJ2 Nonsynonymous SNV V72A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.451 223092 chr12 102589772 102589772 T C rs780532210 PARPBP Synonymous SNV S400S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.488 223093 chr1 91977471 91977471 G A rs377519100 CDC7 Nonsynonymous SNV R188H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 223094 chr3 140265365 140265365 G C rs756093725 CLSTN2 Nonsynonymous SNV V506L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 223095 chr12 122617955 122617955 C T MLXIP Nonsynonymous SNV P385S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.302 223096 chr9 111727677 111727677 G A rs147984130 CTNNAL1 Synonymous SNV D524D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.69 223097 chr1 92470122 92470122 G A rs760550779 BRDT Nonsynonymous SNV R801Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 223098 chr1 92769585 92769585 A G rs761315297 RPAP2 Nonsynonymous SNV I96V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 223099 chr1 94342765 94342765 T C rs192150999 DNTTIP2 Synonymous SNV R242R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.012 223100 chr9 139283037 139283037 G A rs750047187 SNAPC4 Nonsynonymous SNV R328C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 223101 chr1 94528143 94528143 C T rs61749417 ABCA4 Nonsynonymous SNV V643M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 223102 chr3 148586772 148586772 A T CPA3 Nonsynonymous SNV E72V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 223103 chr12 7479572 7479572 G A rs772748521 ACSM4 Nonsynonymous SNV V513M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 223104 chr9 139341720 139341720 G T SEC16A Nonsynonymous SNV A2219E 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 223105 chr3 149459407 149459407 T G rs760434689 COMMD2 Synonymous SNV T167T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.247 223106 chr9 139564628 139564628 T C rs371407132 EGFL7 Synonymous SNV D139D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.489 223107 chr12 129410982 129410982 T A GLT1D1 Nonsynonymous SNV L47Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.794 223108 chr9 139698928 139698928 C T rs186899803 CCDC183-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.005 223109 chr16 72830401 72830401 G A rs770896984 ZFHX3 Synonymous SNV S1146S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 223110 chr12 110655953 110655953 G A rs371043651 IFT81 Synonymous SNV Q341Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.792 223111 chr3 154802094 154802094 C T rs200338110 MME Synonymous SNV I46I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 223112 chr16 75148015 75148015 C T rs138498620 LDHD Synonymous SNV E249E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.2 223113 chr12 132633425 132633425 C A NOC4L Nonsynonymous SNV R296S 0.001 0.005 0 0 1 2 0 0 0 1 0 0 8.178 223114 chr3 157823583 157823583 - CCTCCTCCG SHOX2 G77_V78insGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 223115 chr16 77228678 77228678 C G rs761800612 MON1B Nonsynonymous SNV L162V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 223116 chr9 140444627 140444627 - T rs372921391 PNPLA7 Frameshift insertion S8Kfs*5 0.003 0 0 2 3 0 0.005 0 0 0 0 0 223117 chr12 119594370 119594370 T A SRRM4 Nonsynonymous SNV S535T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 223118 chr3 47958396 47958396 T C rs759863922 MAP4 Synonymous SNV E307E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 223119 chr12 97331008 97331008 C G NEDD1 Synonymous SNV P229P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 223120 chr3 49929190 49929190 C T rs55856544 MST1R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 223121 chr3 5024997 5024997 A G rs145180073 BHLHE40 Nonsynonymous SNV T287A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 223122 chr12 124235709 124235709 T A rs901929976 ATP6V0A2 Nonsynonymous SNV L663H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 223123 chr17 40282555 40282555 G A rs187972504 RAB5C Nonsynonymous SNV P22L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25 223124 chr13 103389372 103389372 C T CCDC168 Nonsynonymous SNV E4559K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.377 223125 chr17 41244252 41244252 G A rs80357201 BRCA1 Nonsynonymous SNV P1052L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 22.9 223126 chr13 33591192 33591192 G A rs200611452 KL Nonsynonymous SNV G205D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 29 223127 chr17 9501590 9501590 A G rs758645765 CFAP52 Synonymous SNV R124R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.39 223128 chr13 111160095 111160099 GAGTC - rs76428347 COL4A2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 223129 chr13 41899834 41899834 G A NAA16 Nonsynonymous SNV V180I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.19 223130 chr3 53883814 53883814 G A rs145364776 IL17RB Nonsynonymous SNV R73Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 223131 chr10 17363042 17363042 C T ST8SIA6 Stop gain W344X 0 0 0 1 0 0 0.003 0 0 0 0 0 46 223132 chr12 132862904 132862904 G A rs782417821 GALNT9 Synonymous SNV Y117Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.038 223133 chr16 88803088 88803088 T C rs546733814 PIEZO1 Nonsynonymous SNV I419V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.497 223134 chr13 114782791 114782791 C T rs73567320 RASA3 Synonymous SNV A344A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 223135 chr17 11684403 11684403 A C DNAH9 Nonsynonymous SNV I2544L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 223136 chr20 35075155 35075155 G C DLGAP4 Nonsynonymous SNV S488T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 223137 chr3 194407632 194407632 A G FAM43A Nonsynonymous SNV Y26C 0.003 0 0 0 3 0 0 0 0 0 0 0 28.7 223138 chr13 28622551 28622551 T C rs746064889 FLT3 Nonsynonymous SNV S356G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 223139 chr13 52598921 52598921 T C ALG11 Nonsynonymous SNV L352P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.45 223140 chr3 74344347 74344347 T C CNTN3 Synonymous SNV L814L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.545 223141 chr3 196669607 196669607 T C NCBP2AS2 Nonsynonymous SNV L7P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 223142 chr3 9803145 9803145 A G CAMK1 Nonsynonymous SNV L211S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 223143 chr9 136507332 136507332 G A rs142383279 DBH Nonsynonymous SNV G164S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 29.6 223144 chr3 98536663 98536663 C T rs149988957 DCBLD2 Nonsynonymous SNV D388N 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23.1 223145 chr10 46965860 46965860 C G LOC102724488, SYT15 Nonsynonymous SNV R110T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 223146 chr17 1715281 1715281 G A rs112190091 SMYD4 Nonsynonymous SNV A88V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 223147 chr9 137593039 137593039 G T rs150147262 COL5A1 Nonsynonymous SNV V172F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 223148 chr13 46099171 46099171 C T rs144497765 COG3 Nonsynonymous SNV P739S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 25.9 223149 chr20 44676649 44676649 G A SLC12A5 Nonsynonymous SNV R669Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 223150 chr9 139272051 139272051 C T SNAPC4 Nonsynonymous SNV E1410K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 223151 chr3 35778743 35778743 C T rs562602597 ARPP21 Synonymous SNV S457S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 223152 chr9 139371636 139371636 G A rs371402764 SEC16A Synonymous SNV V144V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.784 223153 chr3 36873195 36873195 C T rs373979668 TRANK1 Nonsynonymous SNV V2583M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 223154 chr9 139693670 139693670 A G CCDC183 Nonsynonymous SNV K63E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 223155 chr13 42875401 42875401 C T rs778530849 AKAP11 Nonsynonymous SNV S840L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 223156 chr13 73409416 73409416 A C rs147863910 PIBF1 Nonsynonymous SNV H378P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 14.86 223157 chr13 45563320 45563320 C A NUFIP1 Nonsynonymous SNV Q84H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 223158 chr20 49508941 49508941 A G rs189595164 ADNP Synonymous SNV F770F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.718 223159 chr17 3954207 3954207 C T ZZEF1 Nonsynonymous SNV A1911T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 223160 chr3 38442397 38442397 C T rs146998254 XYLB Nonsynonymous SNV T348I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.338 223161 chr20 51872927 51872927 C T rs148549303 TSHZ2 Nonsynonymous SNV A974V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 223162 chr13 51417372 51417372 C T rs373725579 DLEU7 Synonymous SNV T137T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 223163 chr4 123145724 123145724 C T rs764412980 KIAA1109 Synonymous SNV H895H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.28 223164 chr10 70333628 70333628 C T rs779298692 TET1 Synonymous SNV N511N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.625 223165 chr17 37565750 37565750 C T rs753808279 MED1 Synonymous SNV V908V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.149 223166 chr13 74420329 74420329 G C KLF12 Nonsynonymous SNV S102C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 223167 chr4 144435358 144435358 C T rs537845964 SMARCA5-AS1 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 9.402 223168 chr13 99457271 99457271 G A rs748543595 DOCK9 Nonsynonymous SNV R1872W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 223169 chr13 101077925 101077925 G T PCCA Synonymous SNV T521T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.549 223170 chr14 20898548 20898548 T C KLHL33 Nonsynonymous SNV H96R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 223171 chr14 24901148 24901148 C T rs117296295 KHNYN Synonymous SNV P268P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 7.821 223172 chr17 10552930 10552930 - TGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCG MYH3 Frameshift insertion D204Gfs*62 0.001 0 0 0 1 0 0 0 0 0 0 0 223173 chr14 31819870 31819870 C A rs61754154 HEATR5A Nonsynonymous SNV R822L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 223174 chr14 23240302 23240302 C T rs368090191 OXA1L Nonsynonymous SNV R339C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 223175 chr4 170347382 170347382 C T rs756830252 NEK1 Synonymous SNV S866S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.12 223176 chr21 27102042 27102042 G A rs140201687 ATP5PF Nonsynonymous SNV R22W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 223177 chr14 24551955 24551955 G T rs374903210 NRL Nonsynonymous SNV P35T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 223178 chr21 31864272 31864272 T C rs142606860 KRTAP19-3 Nonsynonymous SNV S2G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.446 223179 chr14 20916115 20916115 T C rs146726398 OSGEP Synonymous SNV R247R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.917 223180 chr9 79438587 79438587 T C rs140302586 PRUNE2 Synonymous SNV E239E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.217 223181 chr14 51224176 51224176 G T NIN Nonsynonymous SNV T1191N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.67 223182 chr17 19685356 19685356 G A ULK2 Nonsynonymous SNV H829Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 223183 chr10 99079260 99079260 G A FRAT1 Nonsynonymous SNV G17E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 223184 chr14 29237322 29237322 C T rs570340475 FOXG1 Synonymous SNV T279T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 223185 chr10 99332355 99332355 G C rs41290450 ANKRD2 Nonsynonymous SNV G50A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.802 223186 chr14 58048020 58048020 G A rs777730242 SLC35F4 Nonsynonymous SNV T239M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 223187 chr14 39530990 39530990 C T rs753521673 SEC23A Nonsynonymous SNV R495Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 223188 chr14 47311208 47311208 C G MDGA2 Nonsynonymous SNV A933P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 223189 chr21 42807793 42807793 T C rs145888574 MX1 Synonymous SNV Y45Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 223190 chr17 56294075 56294075 G C rs142813109 MKS1 Nonsynonymous SNV D61E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.85 223191 chr17 56389329 56389329 G A rs763872333 TSPOAP1 Synonymous SNV P891P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 223192 chr14 24567686 24567686 C T rs141787425 PCK2 Nonsynonymous SNV R155C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 223193 chr4 30725864 30725864 C T rs74996332 PCDH7 Synonymous SNV N940N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.48 223194 chr14 24906250 24906250 G A rs140740454 KHNYN Nonsynonymous SNV G640E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 223195 chr17 29645864 29645864 A G rs781729514 EVI2A Synonymous SNV N56N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.497 223196 chr14 65055885 65055885 G A rs112069366 PPP1R36 Synonymous SNV G366G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.785 223197 chr14 38091568 38091568 C T rs866527719 TTC6 Nonsynonymous SNV P116L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 223198 chrX 153706293 153706293 A G rs147622916 LAGE3 Nonsynonymous SNV V141A 0.002 0 0 1 2 0 0.003 0 1 0 0 0 12.05 223199 chr21 47552188 47552188 A C COL6A2 Nonsynonymous SNV I928L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.035 223200 chr14 51196414 51196414 G A rs148886330 NIN Nonsynonymous SNV P1256S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.13 223201 chr14 76045245 76045245 C T rs11849590 LOC102724153 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 7.412 223202 chr14 77978652 77978652 G A rs138652708 SPTLC2 Nonsynonymous SNV T555M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 23.7 223203 chr14 77292839 77292839 A T rs200362790 LRRC74A Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.977 223204 chr14 88945532 88945532 C T rs150491260 PTPN21 Nonsynonymous SNV R748H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.52 223205 chr10 134722741 134722741 T C rs144559760 CFAP46 Nonsynonymous SNV N886S 0.001 0.005 0.01 1 1 2 0.003 3 0 0 0 0 0.027 223206 chr14 94041519 94041519 T C rs370344279 UNC79 Nonsynonymous SNV L729P 0 0 0.003 0 0 0 0 1 0 0 0 0 29 223207 chr17 39925366 39925366 C - JUP A188Lfs*117 0.002 0.003 0 0 2 1 0 0 0 0 0 0 223208 chr14 69341647 69341647 G A ACTN1 Nonsynonymous SNV P870S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 223209 chr14 96779478 96779478 T C ATG2B Nonsynonymous SNV I1256V 0 0.005 0 0 0 2 0 0 0 1 0 0 2.617 223210 chr14 74969989 74969989 C T rs139030976 LTBP2 Synonymous SNV T1607T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.37 223211 chr14 102505980 102505980 G A rs781162203 DYNC1H1 Synonymous SNV A3867A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.12 223212 chr4 77661592 77661592 C T rs200283248 SHROOM3 Synonymous SNV L756L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.6 223213 chr14 102798054 102798054 C G ZNF839 Synonymous SNV R313R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.847 223214 chr14 103396004 103396004 T C rs190222721 AMN Nonsynonymous SNV L258S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.275 223215 chr14 103593018 103593018 C T TNFAIP2 Nonsynonymous SNV P75L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.85 223216 chr15 21937168 21937168 C T rs12185110 LOC646214 0 0 0.027 0 0 0 0 8 0 0 0 0 6.386 223217 chr22 29736663 29736663 G A rs748849742 AP1B1 Synonymous SNV G660G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 223218 chr4 156273778 156273783 TTTATC - rs574972280 MAP9 D596_K597del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 223219 chr15 25223387 25223387 A G SNRPN Nonsynonymous SNV I203V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 223220 chr4 8375309 8375309 G A rs755506855 ACOX3 Synonymous SNV A625A 0 0.005 0 0 0 2 0 0 0 1 0 0 14.61 223221 chr17 80007868 80007868 C T rs147282261 RFNG Synonymous SNV K196K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.21 223222 chr14 105349540 105349540 C T rs771227643 CEP170B Nonsynonymous SNV T179M 0 0.005 0 0 0 2 0 0 0 1 0 0 25.7 223223 chr17 80049154 80049154 C A rs149982597 FASN Nonsynonymous SNV G479V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 1.671 223224 chr4 164246589 164246589 G A rs779932744 NPY1R Nonsynonymous SNV R341W 0.003 0.003 0 5 4 1 0.013 0 0 0 0 0 23 223225 chr15 31775884 31775884 C G OTUD7A Synonymous SNV P798P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.951 223226 chr15 40675103 40675103 G T rs761730079 KNSTRN Nonsynonymous SNV D23Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 223227 chr17 48751019 48751019 G A rs747342723 ABCC3 Nonsynonymous SNV A867T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.223 223228 chr18 6873484 6873484 G A rs764582880 ARHGAP28 Nonsynonymous SNV R185H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 223229 chr18 10702150 10702150 T C PIEZO2 Nonsynonymous SNV Y1980C 0.002 0 0 0 2 0 0 0 0 0 0 0 31 223230 chr22 37628008 37628008 G A rs2230919 RAC2 Synonymous SNV L84L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 15.57 223231 chr5 102465358 102465358 G A rs370371182 PPIP5K2 Nonsynonymous SNV R22Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 223232 chr5 1032318 1032318 C T rs139374291 NKD2 Nonsynonymous SNV P65S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.93 223233 chr14 96864529 96864529 A C rs117932049 AK7 Nonsynonymous SNV T75P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.7 223234 chr14 99871598 99871598 T C rs34992714 SETD3 Synonymous SNV K345K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 2.753 223235 chr14 100069936 100069936 C A CCDC85C Nonsynonymous SNV A121S 0 0 0 2 0 0 0.005 0 0 0 0 0 17.62 223236 chr14 100613109 100613109 C A rs748392895 DEGS2 Nonsynonymous SNV D321Y 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 223237 chr1 12065966 12065966 C A rs770243526 MFN2 Nonsynonymous SNV A565D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 223238 chr15 45409723 45409723 G A DUOXA1 Nonsynonymous SNV P436L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 223239 chr11 1261136 1261136 G T MUC5B Nonsynonymous SNV G1231C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.714 223240 chr5 115351065 115351065 - ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG rs760127445 LVRN Stop gain Q857Yfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 223241 chr15 49090174 49090174 C T rs749068775 CEP152 Synonymous SNV S54S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 223242 chr14 105207484 105207484 C T ADSS1 Stop gain R28X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 223243 chr14 105517676 105517676 G A rs45441203 GPR132 Synonymous SNV A78A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.565 223244 chr15 51285790 51285790 G A AP4E1 Nonsynonymous SNV V697I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 223245 chr11 4661185 4661185 C G OR51D1 Nonsynonymous SNV N55K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 223246 chr15 52179866 52179866 G A TMOD3 Nonsynonymous SNV A122T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 223247 chr15 62251665 62251665 T A VPS13C Synonymous SNV G1303G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.328 223248 chr15 62456450 62456450 A G rs755982224 C2CD4B Nonsynonymous SNV L245P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 223249 chr15 62538315 62538315 C A rs147121581 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 1.924 223250 chr15 63340390 63340390 G A rs983828442 TPM1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 223251 chr17 74008153 74008153 G A EVPL Synonymous SNV I819I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.774 223252 chr15 71305225 71305225 G A rs150157186 LRRC49 Nonsynonymous SNV R564H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.1 223253 chr15 63920957 63920957 C T rs777762518 HERC1 Nonsynonymous SNV G4342R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 223254 chr15 40591100 40591100 C A rs199754432 PLCB2 Nonsynonymous SNV R250L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 223255 chr15 64067443 64067443 A G HERC1 Nonsynonymous SNV V127A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.104 223256 chr15 41821718 41821718 C T rs190804095 RPAP1 Nonsynonymous SNV V370M 0 0 0 1 0 0 0.003 0 0 0 0 0 22 223257 chr11 5906423 5906423 C T OR52E4 Stop gain R301X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 38 223258 chr5 140750581 140750581 A G rs765278378 PCDHGB3 Nonsynonymous SNV H207R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 223259 chr15 72767215 72767215 - GCC ARIH1 G79_G80insR 0 0.003 0 0 0 1 0 0 0 0 0 0 223260 chr5 14609105 14609105 C T rs149304722 OTULINL Synonymous SNV G292G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.03 223261 chr5 147498011 147498011 T C rs200884153 SPINK5 Synonymous SNV A708A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.518 223262 chr15 83499688 83499688 G A rs201723993 WHAMM Nonsynonymous SNV R660H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 223263 chr15 75042179 75042179 C T rs201934979 CYP1A2 Nonsynonymous SNV R34W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.81 223264 chr5 149324063 149324063 G C PDE6A Nonsynonymous SNV S58R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.17 223265 chr15 77471791 77471791 A G PEAK1 Synonymous SNV S826S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.643 223266 chr1 35865125 35865125 G A rs373762116 ZMYM4 Nonsynonymous SNV R835H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 223267 chr15 51634061 51634061 C T rs139283412 GLDN Synonymous SNV R60R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 16.9 223268 chr5 149677104 149677104 G A rs112583032 ARSI Synonymous SNV A461A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 3.091 223269 chr17 79496248 79496248 C T rs150620080 FSCN2 Nonsynonymous SNV P231S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23 223270 chr15 86368922 86368922 C T rs76468441 MIR548AP 0 0 0.014 0 0 0 0 4 0 0 0 0 0.133 223271 chr17 79668149 79668149 C T rs141545013 HGS Synonymous SNV P737P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.06 223272 chr5 150858983 150858983 C T rs138339360 SLC36A1 Synonymous SNV S364S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.63 223273 chr15 55710427 55710427 A G rs534357896 C15orf65 Nonsynonymous SNV K9E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 223274 chr5 153190613 153190613 T A GRIA1 Nonsynonymous SNV I770N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 223275 chr15 85164977 85164977 C T rs151001508 ZSCAN2 Synonymous SNV L517L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.82 223276 chr15 85400643 85400643 G A rs145983200 ALPK3 Nonsynonymous SNV G1094R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 0.05 223277 chr15 90771432 90771432 G A rs377147618 SEMA4B Nonsynonymous SNV V553I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.315 223278 chr5 159821636 159821636 T C rs142013929 ZBED8 Nonsynonymous SNV R288G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 223279 chr15 95399256 95399256 G A rs189733239 LOC440311 0 0 0.003 0 0 0 0 1 0 0 0 0 6.141 223280 chr2 153004773 153004773 T C rs757195909 STAM2 Nonsynonymous SNV H56R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 223281 chr15 66727535 66727535 A G rs774932586 MAP2K1 Nonsynonymous SNV K84R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.7 223282 chr16 12662415 12662415 C G rs201318041 SNX29 Nonsynonymous SNV R791G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 223283 chr2 160884797 160884797 C T rs369497962 PLA2R1 Nonsynonymous SNV R344Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 223284 chr19 2732916 2732916 C T rs7252210 SLC39A3 Nonsynonymous SNV V260M 0.004 0 0 4 5 0 0.01 0 0 0 0 0 27.3 223285 chr2 163000559 163000559 T C rs764019618 GCG Nonsynonymous SNV I172V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.35 223286 chr15 91456188 91456188 A G rs770761364 MAN2A2 Nonsynonymous SNV I851V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 223287 chr15 91490040 91490040 G A rs766977250 UNC45A Nonsynonymous SNV G321S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.85 223288 chr2 1652349 1652349 G A rs765244831 PXDN Nonsynonymous SNV A1068V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 223289 chr18 21141343 21141343 G A rs151084683 NPC1 Synonymous SNV T204T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.72 223290 chr5 177571008 177571008 G A rs535396518 RMND5B Nonsynonymous SNV R185Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 223291 chr16 1797183 1797183 G A rs200459991 MAPK8IP3 Nonsynonymous SNV V300M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.313 223292 chr15 100250951 100250951 C T MEF2A Synonymous SNV A298A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.56 223293 chr5 180048807 180048807 G A FLT4 Synonymous SNV Y585Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.414 223294 chr5 1094323 1094323 A G rs138053368 SLC12A7 Synonymous SNV N55N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.017 223295 chr16 2230937 2230937 A G rs764130602 CASKIN1 Nonsynonymous SNV L811P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 223296 chr18 33846777 33846777 G C rs149036890 MOCOS Nonsynonymous SNV Q825H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 223297 chr15 84241344 84241344 C T SH3GL3 Nonsynonymous SNV S51F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 223298 chr2 179407482 179407482 G A rs202064385 TTN Nonsynonymous SNV R23302C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 223299 chr2 179427778 179427778 C T rs775499341 TTN Nonsynonymous SNV R18629H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.9 223300 chr5 34840842 34840842 T C rs765964563 TTC23L Synonymous SNV H31H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.304 223301 chr16 1266940 1266940 C T rs57181695 CACNA1H Synonymous SNV N1745N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 Benign 11.59 223302 chr5 118970218 118970218 G A rs377559289 FAM170A Nonsynonymous SNV V212I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 223303 chr2 179605726 179605726 G C rs192857526 TTN Synonymous SNV T3715T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.1 223304 chr16 31214363 31214363 T A rs11648861 PYCARD-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.223 223305 chr16 1867266 1867266 G A HAGH Nonsynonymous SNV P147S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 223306 chr2 179623826 179623826 T C rs183336802 TTN Synonymous SNV E3350E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.614 223307 chr16 334669 334669 C T rs371295733 PDIA2 Synonymous SNV D139D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.715 223308 chr15 90760828 90760828 C T rs200243901 SEMA4B Nonsynonymous SNV T28I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.169 223309 chr19 38189454 38189454 A G ZNF607 Synonymous SNV I525I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.092 223310 chr15 90774357 90774357 A G rs34958365 CIB1 Synonymous SNV S185S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.007 223311 chr15 90784862 90784862 G A rs75296384 GDPGP1 Nonsynonymous SNV G241E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 223312 chr5 53814805 53814805 C T rs937259464 SNX18 Synonymous SNV T341T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.905 223313 chr5 137504975 137504975 G A rs139423469 BRD8 Nonsynonymous SNV S152F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26.4 223314 chr5 139494543 139494543 G A rs146964273 PURA Synonymous SNV V259V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.977 223315 chr16 3652268 3652268 C G SLX4 Synonymous SNV A267A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 223316 chr11 55761664 55761664 G - rs769745114 OR5F1 A148Lfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 223317 chr2 198480675 198480675 G A rs148997802 RFTN2 Nonsynonymous SNV P360L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 223318 chr2 201534424 201534424 G A AOX1 Nonsynonymous SNV E1309K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 223319 chr16 8736368 8736368 G A METTL22 Nonsynonymous SNV R319Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24 223320 chr5 72875875 72875875 C T rs200308530 UTP15 Nonsynonymous SNV H315Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 223321 chr16 65345398 65345398 G A rs200011962 LINC00922 0 0 0.007 0 0 0 0 2 0 0 0 0 6.426 223322 chr16 65345399 65345399 A T rs201298449 LINC00922 0 0 0.007 0 0 0 0 2 0 0 0 0 3.447 223323 chr19 41216012 41216012 G C COQ8B Nonsynonymous SNV L107V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 223324 chr16 67876766 67876783 GCAGCAGCAGCAACAGCA - rs752755017 THAP11 Q127_Q132del 0 0 0.003 0 0 0 0 1 0 0 0 0 223325 chr5 145651122 145651122 G A rs199838555 RBM27 Nonsynonymous SNV R958H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 223326 chr5 145883021 145883021 A G TCERG1 Synonymous SNV E801E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.006 223327 chr16 69727991 69727991 C T rs763792026 NFAT5 Synonymous SNV N1196N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.904 223328 chr5 78076282 78076282 A C ARSB Nonsynonymous SNV F514V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 223329 chr16 1570196 1570196 A G IFT140 Nonsynonymous SNV I1270T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 223330 chr5 78936972 78936972 A G rs759006283 TENT2 Nonsynonymous SNV T209A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.22 223331 chr5 150489324 150489324 G A rs974508422 ANXA6 Synonymous SNV H526H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 223332 chr16 74490581 74490581 T A rs144493700 GLG1 Nonsynonymous SNV N1102I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 223333 chr16 23677045 23677045 C T rs150716217 DCTN5 Synonymous SNV C149C 0 0.003 0 0 0 1 0 0 0 0 0 0 16 223334 chr1 115268922 115268922 T C rs910056765 CSDE1 Nonsynonymous SNV K486R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 223335 chr5 79084811 79084811 A G rs374309573 CMYA5 Nonsynonymous SNV K3858R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 223336 chr16 2285414 2285414 C T rs368189091 E4F1 Synonymous SNV S555S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 223337 chr16 28877684 28877684 C T SH2B1 Nonsynonymous SNV P90L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.39 223338 chr19 4361603 4361603 C T rs146571406 SH3GL1 Synonymous SNV P319P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 15.28 223339 chr16 3335113 3335113 G A rs140419803 ZNF263 Nonsynonymous SNV E148K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.5 223340 chr16 30017983 30017983 A G rs377070855 DOC2A Synonymous SNV D298D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 223341 chr16 82101805 82101805 G T HSD17B2 Nonsynonymous SNV C99F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 223342 chr16 4308169 4308169 G A rs146039637 TFAP4 Nonsynonymous SNV R302C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 223343 chr16 837441 837441 C T rs374207163 RPUSD1 Synonymous SNV A73A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.14 223344 chr16 30768913 30768913 G C rs765937812 CCDC189 Nonsynonymous SNV Q294E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.108 223345 chr16 84193338 84193338 C T DNAAF1 Nonsynonymous SNV T15I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.71 223346 chr16 31154762 31154762 C G rs761919041 PRSS36 Nonsynonymous SNV W334S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 223347 chr19 46321381 46321381 G A rs376169646 SYMPK Nonsynonymous SNV R973W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 223348 chr5 98215306 98215306 C T CHD1 Nonsynonymous SNV E1063K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 223349 chr16 87451243 87451243 C T rs776678219 ZCCHC14 Synonymous SNV A265A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 223350 chr16 56868107 56868107 C T rs139671995 NUP93 Synonymous SNV Y412Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.8 223351 chr11 62489293 62489293 C G HNRNPUL2 Nonsynonymous SNV R494T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 223352 chr16 88780842 88780842 C T rs958242068 CTU2 Synonymous SNV D296D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.423 223353 chr16 88789063 88789063 A G PIEZO1 Nonsynonymous SNV L1568P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 223354 chr19 7622148 7622148 C T rs375987938 PNPLA6 Synonymous SNV G1125G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.53 223355 chr5 176882376 176882376 A G rs895181993 PRR7 Nonsynonymous SNV H103R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.401 223356 chr19 23837049 23837049 T C rs138875000 ZNF675 Nonsynonymous SNV K229R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 223357 chr16 68337938 68337938 T C rs143239221 SLC7A6OS Synonymous SNV E223E 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 6.329 223358 chr19 49217167 49217167 C T rs752775222 MAMSTR Nonsynonymous SNV A119T 0 0 0 2 0 0 0.005 0 0 0 0 0 6.377 223359 chr6 116575066 116575066 G T TSPYL4 Nonsynonymous SNV L36I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.438 223360 chr6 116575067 116575067 C A TSPYL4 Synonymous SNV G35G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.16 223361 chr16 69783169 69783169 T C rs199909206 NOB1 Nonsynonymous SNV M158V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 223362 chr16 70285382 70285382 C T EXOSC6 Nonsynonymous SNV R141H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 223363 chr16 89800391 89800391 C G rs370121430 ZNF276 Nonsynonymous SNV N473K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 223364 chr16 70841956 70841956 T C HYDIN Nonsynonymous SNV T4965A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 223365 chr17 10212612 10212612 C A rs142532419 MYH13 Nonsynonymous SNV R1703L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 223366 chr2 234894427 234894427 G A rs202035579 TRPM8 Nonsynonymous SNV E953K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 223367 chr19 50045861 50045861 C T rs62128091 RCN3 Nonsynonymous SNV T244M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 32 223368 chr2 236839475 236839475 G A rs377633728 AGAP1 Nonsynonymous SNV R464Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.2 223369 chr6 12123487 12123487 T C rs761477407 HIVEP1 Synonymous SNV P1153P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 223370 chr2 237032579 237032579 C T rs201123570 AGAP1 Nonsynonymous SNV T743M 0.003 0.003 0.01 1 3 1 0.003 3 0 0 0 0 11.51 223371 chr16 77468558 77468558 G C rs200952997 ADAMTS18 Nonsynonymous SNV P12R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 0.014 223372 chr6 131979472 131979472 G C rs771015940 ENPP3 Synonymous SNV L158L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.7 223373 chr16 50100292 50100292 C G rs757758961 HEATR3 Nonsynonymous SNV S51R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 223374 chr19 38684393 38684393 G A rs751469007 SIPA1L3 Nonsynonymous SNV A1605T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 223375 chr16 55909129 55909129 C G rs201951186 CES5A Nonsynonymous SNV S2T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.271 223376 chr6 139206888 139206888 C T rs199701983 ECT2L Nonsynonymous SNV T727I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 not provided 26.2 223377 chr19 9225935 9225937 AGA - rs758887646 OR7G1 F168del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 223378 chr17 19452968 19452968 C T rs35646404 SLC47A1 Nonsynonymous SNV T159M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.446 223379 chr16 57790749 57790749 A G KATNB1 Nonsynonymous SNV Y620C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.66 223380 chr16 88722136 88722136 C T rs775380452 MVD Synonymous SNV V202V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.332 223381 chr11 76868348 76868348 C T rs182220009 MYO7A Synonymous SNV H253H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 14.62 223382 chr16 67235961 67235961 G A rs374051275 ELMO3 Nonsynonymous SNV A378T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.421 223383 chr16 67478492 67478492 G A ATP6V0D1 Synonymous SNV A140A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.37 223384 chr6 152639252 152639252 A G SYNE1 Synonymous SNV I5441I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.765 223385 chr16 88804523 88804523 G A rs190903475 LOC100289580 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 6.622 223386 chr19 12460636 12460636 C T rs201653000 ZNF442 Nonsynonymous SNV R519Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.25 223387 chr19 12845397 12845397 - CCGCCA TRIR G25_S26insGG 0.002 0.003 0 0 2 1 0 0 0 0 0 0 223388 chr17 27010101 27010101 A G rs772597528 SUPT6H Synonymous SNV K623K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.506 223389 chr6 154535363 154535363 G A IPCEF1 Nonsynonymous SNV T147I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 223390 chr16 70708403 70708403 C A MTSS2 Nonsynonymous SNV G287C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 223391 chr16 89831439 89831439 G A rs149435806 FANCA Synonymous SNV A879A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.435 223392 chr16 72164483 72164483 T C PMFBP1 Nonsynonymous SNV Q529R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.439 223393 chr16 74514211 74514211 T C GLG1 Synonymous SNV E574E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.146 223394 chr17 34072031 34072031 G T GAS2L2 Synonymous SNV R829R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.693 223395 chr17 3436209 3436209 T C rs75487373 TRPV3 Synonymous SNV A269A 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 0.025 223396 chr6 166738073 166738073 T C SFT2D1 Nonsynonymous SNV K121R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 223397 chr17 1651901 1651901 G A rs201542762 SERPINF2 Nonsynonymous SNV R178K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.439 223398 chr2 46070165 46070165 G A rs552672060 PRKCE Synonymous SNV V125V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 223399 chr2 46739497 46739497 T A ATP6V1E2 Nonsynonymous SNV K118N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 223400 chr17 2276663 2276663 G A SGSM2 Synonymous SNV L607L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 223401 chr17 2290850 2290850 T G rs140963967 MNT Nonsynonymous SNV K365T 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 223402 chr6 168443258 168443258 G A rs200480792 KIF25 Nonsynonymous SNV G283R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 223403 chr17 3845974 3845974 G T rs140082452 ATP2A3 Synonymous SNV R491R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 7.149 223404 chr19 17397492 17397501 TGTGTGTGTT - rs748752438 ANKLE1 L591Vfs*15 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 223405 chr16 84209580 84209580 T C rs191935750 DNAAF1 Synonymous SNV S344S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.495 223406 chr17 3594941 3594941 G A rs137893234 P2RX5 Synonymous SNV A95A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.223 223407 chr17 4848125 4848125 A G rs752769089 RNF167 Synonymous SNV Q254Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.426 223408 chr11 119182530 119182530 C T rs571296143 MCAM Nonsynonymous SNV V425M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 223409 chr17 6387548 6387548 G A rs371206919 PITPNM3 Synonymous SNV H77H 0 0.005 0 0 0 2 0 0 0 0 0 0 1.427 223410 chr6 2766524 2766524 A G rs755375452 WRNIP1 Nonsynonymous SNV Q223R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.09 223411 chr16 88804942 88804942 T C LOC100289580 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 223412 chr17 41008294 41008294 T C rs35249432 AOC3 Nonsynonymous SNV I630T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.152 223413 chr19 49657306 49657306 G A rs200176524 HRC Stop gain R397X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 223414 chr17 7320758 7320758 C T rs145673268 NLGN2 Synonymous SNV G716G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 223415 chr17 7324840 7324840 C T rs761905255 SPEM1 Synonymous SNV S282S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 223416 chr19 50310605 50310605 C T rs139365610 FUZ Nonsynonymous SNV D318N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.2 223417 chr17 69436 69436 G A rs138331851 RPH3AL Synonymous SNV G206G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.642 223418 chr17 7484336 7484336 C G rs145943583 CD68 Nonsynonymous SNV L268V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 223419 chr17 7640572 7640572 G A rs958382830 DNAH2 Nonsynonymous SNV R389Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25 223420 chr17 7752863 7752863 G A rs141005996 KDM6B Nonsynonymous SNV R1086Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 223421 chr6 34835128 34835128 C T UHRF1BP1 Nonsynonymous SNV P1180L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 223422 chr19 58946204 58946204 C T ZNF132 Nonsynonymous SNV G203S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.497 223423 chr17 8137813 8137813 G A rs767152748 CTC1 Nonsynonymous SNV S593F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 223424 chr17 9631577 9631577 G A rs201132961 USP43 Nonsynonymous SNV R876Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.532 223425 chr6 3751525 3751525 C A PXDC1 Nonsynonymous SNV G81W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 223426 chr11 134131232 134131232 G A rs121908422 ACAD8 Nonsynonymous SNV R302Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 223427 chr17 4856121 4856121 T G ENO3 Synonymous SNV A39A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 223428 chr12 346407 346407 G A rs199825876 SLC6A13 Nonsynonymous SNV R113C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 32 223429 chr6 151857509 151857509 T A CCDC170 Stop gain Y38X 0.001 0 0 0 1 0 0 0 0 0 0 0 31 223430 chr17 5462345 5462345 C T NLRP1 Synonymous SNV Q557Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.725 223431 chr12 4736272 4736272 C T rs75515830 AKAP3 Nonsynonymous SNV R599Q 0 0 0 2 0 0 0.005 0 0 0 0 0 16.13 223432 chr3 11402200 11402200 A G rs752093920 ATG7 Nonsynonymous SNV N503S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 223433 chr17 56540466 56540466 T C HSF5 Nonsynonymous SNV R407G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 223434 chr19 38056639 38056639 C G rs887958677 ZNF571 Nonsynonymous SNV A231P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 223435 chr6 43166554 43166554 C T rs201783235 CUL9 Nonsynonymous SNV A1004V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 223436 chr6 44140809 44140812 AAGT - CAPN11 K221Afs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 223437 chr12 6439051 6439051 G A TNFRSF1A Nonsynonymous SNV P209L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.98 223438 chr6 44254079 44254079 G A rs150040594 TCTE1 Synonymous SNV F156F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.27 223439 chr3 121206591 121206591 A C rs780430755 POLQ Synonymous SNV V1729V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 223440 chr3 121658203 121658203 A G rs116307792 SLC15A2 Nonsynonymous SNV N559S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 223441 chr17 63206742 63206742 C T rs762311718 RGS9 Nonsynonymous SNV R473C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 223442 chr12 7254671 7254671 C T rs141143315 C1RL Nonsynonymous SNV G105S 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 20.9 223443 chr6 49754390 49754390 G A rs200196486 PGK2 Nonsynonymous SNV R171C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 223444 chr3 122631753 122631753 C G rs78490011 SEMA5B Nonsynonymous SNV G830R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 223445 chr19 40433822 40433822 G A rs375117067 FCGBP Synonymous SNV P149P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.452 223446 chr6 51771044 51771044 G A rs140065359 PKHD1 Synonymous SNV F2259F 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.3 223447 chr17 27287965 27287965 C T rs769823626 SEZ6 Nonsynonymous SNV A423T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 223448 chr17 27936138 27936138 C T rs139389888 ANKRD13B Synonymous SNV D200D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.762 223449 chr17 28030074 28030074 G A rs185441466 SSH2 Synonymous SNV S45S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.98 223450 chr17 71390387 71390387 G A rs760592944 SDK2 Synonymous SNV V1223V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.998 223451 chr17 30796174 30796174 C T rs34078182 PSMD11 Synonymous SNV C202C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.91 223452 chr6 70386406 70386406 A T rs150780948 LMBRD1 Nonsynonymous SNV L409Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24 223453 chr12 12939898 12939898 T C APOLD1 Nonsynonymous SNV F51S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 223454 chr6 75884802 75884802 C G rs373259425 COL12A1 Nonsynonymous SNV A888P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 223455 chr17 34074257 34074257 G A rs139867246 GAS2L2 Nonsynonymous SNV P288L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 223456 chr6 80383470 80383470 G A SH3BGRL2 Nonsynonymous SNV G62D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 223457 chr17 17699533 17699533 G A rs745814214 RAI1 Nonsynonymous SNV A1091T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 223458 chr6 25983589 25983589 G A rs368108856 TRIM38 Nonsynonymous SNV G358R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 223459 chr17 74944752 74944752 G A MGAT5B Synonymous SNV S746S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 223460 chr19 46651537 46651537 T C IGFL2 Star tloss M1T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.959 223461 chr12 26752257 26752257 G A rs767393465 ITPR2 Nonsynonymous SNV R1275W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 223462 chr12 27553606 27553606 G A rs377500458 ARNTL2 Synonymous SNV Q316Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.959 223463 chr17 76354783 76354783 C G SOCS3 Nonsynonymous SNV G132R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.096 223464 chr19 48519210 48519210 - TT ELSPBP1 Frameshift insertion Q91Sfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 223465 chr19 48519211 48519211 - T ELSPBP1 Frameshift insertion Q91Sfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 223466 chr19 48519212 48519212 C T rs199756045 ELSPBP1 Stop gain Q91X 0.001 0 0 0 1 0 0 0 0 0 0 0 31 223467 chr19 48519214 48519214 - GCTTCTTA ELSPBP1 Stop gain G92Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 223468 chr7 100274993 100274993 C A GNB2 Synonymous SNV S74S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.83 223469 chr17 78059803 78059803 G T CCDC40 Nonsynonymous SNV G746V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 223470 chr19 58966968 58966968 C T rs141848899 ZNF324B Synonymous SNV G219G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.896 223471 chr12 46321229 46321229 C T SCAF11 Nonsynonymous SNV C752Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.23 223472 chr17 26114717 26114717 C T rs773600534 NOS2 Nonsynonymous SNV G152S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.18 223473 chr17 78268539 78268539 A G rs759211824 RNF213 Nonsynonymous SNV I498V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 223474 chr7 100550229 100550229 T G rs371894048 MUC3A Synonymous SNV T270T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.299 223475 chr12 49431484 49431484 C T rs369597292 KMT2D Nonsynonymous SNV A3219T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 223476 chr17 31099821 31099821 G A rs140725997 MYO1D Nonsynonymous SNV H202Y 0 0 0 1 0 0 0.003 0 0 0 0 0 31 223477 chr17 33267568 33267570 TTC - rs563468247 CCT6B R282del 0 0 0 1 0 0 0.003 0 0 0 0 0 223478 chr17 40717494 40717494 - GT rs1064794879 COASY Stop gain I469* 0 0.003 0 0 0 1 0 0 0 0 0 0 223479 chr17 33772359 33772359 C T rs115892979 SLFN13 Nonsynonymous SNV G114D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.336 223480 chr17 80399001 80399001 C G rs375812231 HEXD Nonsynonymous SNV R371G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.11 223481 chr3 17202707 17202707 G A rs148145822 TBC1D5 Synonymous SNV S576S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.79 223482 chr6 43250512 43250512 T C TTBK1 Synonymous SNV A678A 0.003 0 0 0 4 0 0 0 0 0 0 0 0.209 223483 chr17 37317602 37317602 A G rs550194233 ARL5C Synonymous SNV F86F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.384 223484 chr17 37786272 37786273 CT - PPP1R1B A37Lfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 223485 chr12 53004950 53004950 C T rs191422928 KRT73-AS1 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.352 223486 chr6 44273470 44273470 T C AARS2 Nonsynonymous SNV M452V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 223487 chr17 46878685 46878685 C T rs943950631 TTLL6 Nonsynonymous SNV M181I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.7 223488 chr12 53517561 53517561 C T rs749095677 SOAT2 Synonymous SNV N474N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.78 223489 chr12 53681846 53681846 C T rs750601771 ESPL1 Nonsynonymous SNV R1423W 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 223490 chr17 48545909 48545909 T C rs752238955 CHAD Nonsynonymous SNV E89G 0 0.003 0 0 0 1 0 0 0 0 0 0 27 223491 chr18 28992826 28992826 A C rs112653254 DSG4 Synonymous SNV R816R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.589 223492 chr17 39346244 39346244 C - rs781691722 KRTAP9-1 C37Vfs*146 0 0 0 1 0 0 0.003 0 0 0 0 0 223493 chr18 31325774 31325774 A C rs748304371 ASXL3 Nonsynonymous SNV N1988H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 223494 chr2 47672721 47672721 G T rs730881781 MSH2 Synonymous SNV V437V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.37 223495 chr18 3597003 3597003 G C rs11661062 DLGAP1-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 3.094 223496 chr20 31549038 31549038 C T rs898650932 EFCAB8 Stop gain Q1164X 0.002 0 0 0 2 0 0 0 0 0 0 0 4.328 223497 chr6 64394956 64394956 G A rs141773184 PHF3 Nonsynonymous SNV D357N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.32 223498 chr7 127669416 127669416 C T LRRC4 Synonymous SNV V426V 0 0.005 0 0 0 2 0 0 0 1 0 0 6.874 223499 chr18 51820680 51820680 T C POLI Nonsynonymous SNV L568P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 223500 chr17 42090466 42090466 C T TMEM101 Nonsynonymous SNV G126S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 223501 chr3 33055752 33055752 C T rs191203702 GLB1 Synonymous SNV T379T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.59 223502 chr17 42744572 42744572 C T rs367775822 MEIOC Synonymous SNV P431P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.454 223503 chr19 55708590 55708590 A G rs777920990 PTPRH Nonsynonymous SNV W451R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.001 223504 chr17 42926724 42926724 C T rs758577278 HIGD1B Nonsynonymous SNV A68V 0 0 0 1 0 0 0.003 0 0 0 0 0 32 223505 chr7 139652355 139652355 C G rs148763147 TBXAS1 Synonymous SNV G152G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.682 223506 chr6 7895348 7895348 C G TXNDC5 Nonsynonymous SNV V95L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 223507 chr3 36778864 36778864 C T DCLK3 Synonymous SNV L429L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 223508 chr18 65181110 65181110 T G rs964340640 DSEL Nonsynonymous SNV K246Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.35 223509 chr17 45897429 45897429 G A rs138036790 OSBPL7 Nonsynonymous SNV R37W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 223510 chr18 72114190 72114190 C T DIPK1C Nonsynonymous SNV R176Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.934 223511 chr17 48613975 48613975 G A EPN3 Nonsynonymous SNV A20T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 223512 chr18 77246527 77246527 C T rs200207441 NFATC1 Nonsynonymous SNV P319L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.028 223513 chr18 77420680 77420680 G A rs149735254 LOC284241 0 0 0.007 0 0 0 0 2 0 0 0 0 3.645 223514 chr7 149547262 149547262 G A rs771681496 ZNF862 Nonsynonymous SNV E318K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.61 223515 chr18 77475121 77475121 C T rs760135414 CTDP1 Nonsynonymous SNV A435V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 223516 chr12 98909558 98909558 G A TMPO-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.844 223517 chr18 9887433 9887433 A G rs2240907 TXNDC2 Synonymous SNV E319E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.787 223518 chr12 101705569 101705569 G A rs547678956 UTP20 Synonymous SNV T768T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.14 223519 chr17 76423073 76423073 A G rs374360300 DNAH17 Synonymous SNV C4235C 0 0.005 0 0 0 2 0 0 0 1 0 0 6.372 223520 chr7 150747685 150747685 A G rs776642831 ASIC3 Nonsynonymous SNV Q268R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 223521 chr20 56793723 56793723 G A rs752691821 ANKRD60 Nonsynonymous SNV P289L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 223522 chr17 56584656 56584656 G T MTMR4 Synonymous SNV I230I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.23 223523 chr17 56676755 56676755 - T TEX14 Frameshift insertion P657Tfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 223524 chr19 12638196 12638196 T C rs781276389 ZNF564 Synonymous SNV R242R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.871 223525 chr17 71282144 71282144 G A rs200093546 CDC42EP4 Nonsynonymous SNV R166W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 223526 chr19 15540558 15540558 G A rs542893133 WIZ Nonsynonymous SNV P164L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.766 223527 chr17 72959886 72959886 G T rs377414295 HID1 Synonymous SNV P112P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.827 223528 chr7 102105170 102105170 C T rs781453865 ALKBH4 Synonymous SNV L38L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.54 223529 chr7 30087537 30087537 A G rs147669223 PLEKHA8 Nonsynonymous SNV K135E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 223530 chr20 4680089 4680112 CAGCCCCATGGTGGTGGCTGGGGA - PRNP P84_Q91del 0.003 0.003 0.01 0 3 1 0 3 0 0 1 0 223531 chr17 73518220 73518220 G A rs748340945 TSEN54 Nonsynonymous SNV R353Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 223532 chr12 123064477 123064477 C T rs199590387 KNTC1 Nonsynonymous SNV A956V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 223533 chr19 16687752 16687752 C T rs370082303 MED26 Nonsynonymous SNV V297M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.844 223534 chr21 30342933 30342933 C A rs61748614 LTN1 Nonsynonymous SNV Q372H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 223535 chr21 30343017 30343017 T C rs61753615 LTN1 Synonymous SNV L344L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.581 223536 chr19 17384761 17384761 C T rs141094549 BABAM1 Synonymous SNV F131F 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 11.5 223537 chr19 17394983 17394983 G A rs201964957 ANKLE1 Synonymous SNV A391A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.682 223538 chr21 34060658 34060658 C A rs532075408 SYNJ1 Nonsynonymous SNV R270L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 223539 chr3 57542133 57542133 C T rs568307218 PDE12 Synonymous SNV A9A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.685 223540 chr17 76423134 76423134 G C rs372755956 DNAH17 Nonsynonymous SNV A4215G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.92 223541 chr7 122338071 122338071 A G rs113127267 RNF133 Nonsynonymous SNV L301P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 223542 chr12 132681664 132681664 G A rs111344752 GALNT9 Synonymous SNV H234H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.154 223543 chr20 22562944 22562944 C A FOXA2 Synonymous SNV S312S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.05 223544 chr20 23066205 23066205 T G rs142255873 CD93 Nonsynonymous SNV S209R 0.003 0 0 0 4 0 0 0 0 0 0 0 24 223545 chr17 77044070 77044070 G A rs113589829 C1QTNF1 Nonsynonymous SNV R167H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 223546 chr3 87322616 87322616 G A rs374725184 POU1F1 Nonsynonymous SNV P58L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.8 223547 chr20 25462645 25462645 G A rs370737932 NINL Nonsynonymous SNV P590L 0.003 0 0 0 3 0 0 0 0 0 0 0 2.364 223548 chr19 19338546 19338546 G A rs1022346334 NCAN Nonsynonymous SNV R706K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 223549 chr20 30142620 30142620 G A rs756183196 HM13 Nonsynonymous SNV V266I 0.003 0 0 0 3 0 0 0 0 0 0 0 5.989 223550 chr7 48467386 48467386 T C rs377644926 ABCA13 Synonymous SNV D4161D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.246 223551 chr18 29121196 29121196 C T rs775642244 DSG2 Synonymous SNV G640G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.2 223552 chr19 19603512 19603512 C G rs199695439 GATAD2A Synonymous SNV T175T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.9 223553 chr20 31549126 31549126 C T EFCAB8 Nonsynonymous SNV P1193L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.107 223554 chr19 21300018 21300018 G A rs61740552 ZNF714 Nonsynonymous SNV R183Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.038 223555 chr18 33779793 33779793 C T rs142201209 MOCOS Synonymous SNV T149T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 223556 chr13 25487148 25487148 T C rs757775034 CENPJ Nonsynonymous SNV T6A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.539 223557 chr13 27250805 27250805 G A rs139779405 WASF3 Synonymous SNV L220L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.174 223558 chr19 23545254 23545254 T A rs761670233 ZNF91 Nonsynonymous SNV H144L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 223559 chr20 35826819 35826819 G C rs200744192 RPN2 Nonsynonymous SNV R76T 0.003 0 0 0 4 0 0 0 0 0 0 0 18.69 223560 chr19 2396585 2396585 G A rs750216653 TMPRSS9 Nonsynonymous SNV R64Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.663 223561 chr19 24310673 24310673 A G rs139407104 ZNF254 Nonsynonymous SNV H539R 0 0 0.01 0 0 0 0 3 0 0 0 0 23.4 223562 chr7 136700161 136700161 T C rs141951417 CHRM2 Synonymous SNV N183N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.052 223563 chr7 64166912 64166912 A C rs142189998 ZNF107 Nonsynonymous SNV Q114P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.376 223564 chr13 33017857 33017857 C T rs376387228 N4BP2L2 Nonsynonymous SNV V258I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 223565 chr20 39977371 39977371 C A LPIN3 Nonsynonymous SNV A134E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 223566 chr7 69583206 69583206 A G rs149961458 AUTS2 Nonsynonymous SNV E204G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 27.2 223567 chr7 139876691 139876691 G C rs558379371 KDM7A Nonsynonymous SNV A16G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 223568 chr7 73511070 73511070 A G rs782794386 LIMK1 Nonsynonymous SNV I57V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.12 223569 chr19 33588726 33588726 G A rs146407736 GPATCH1 Synonymous SNV K306K 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 13.84 223570 chr7 75693682 75693682 A G rs782549244 MDH2 Nonsynonymous SNV Q178R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.7 223571 chr21 47704015 47704015 C T rs118133821 MCM3AP Nonsynonymous SNV E396K 0.003 0 0 0 3 0 0 0 0 0 0 0 25 223572 chr20 48098499 48098499 T C KCNB1 Synonymous SNV K173K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 223573 chr18 13826533 13826533 C T rs201046123 MC5R Nonsynonymous SNV H257Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 223574 chr4 128807808 128807808 A G PLK4 Nonsynonymous SNV N396S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 223575 chr7 99690645 99690645 T C MCM7 Synonymous SNV T514T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 223576 chr18 34740344 34740344 G A rs200877991 KIAA1328 Nonsynonymous SNV G364R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 223577 chr18 42281511 42281511 G A rs778196366 SETBP1 Nonsynonymous SNV R67Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 223578 chr18 76870412 76870412 A C rs617472 ATP9B Synonymous SNV T117T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.004 223579 chr19 38810820 38810820 T C rs775083474 KCNK6 Nonsynonymous SNV L77P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 223580 chr13 103394170 103394172 TTC - rs544868321 CCDC168 E2959del 0 0 0 1 0 0 0.003 0 0 0 0 0 223581 chr19 622167 622167 G C rs142327145 POLRMT Synonymous SNV S611S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.648 223582 chr13 103513972 103513972 G A rs61749896 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R263Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.57 223583 chr19 3905622 3905622 C G ATCAY Nonsynonymous SNV F109L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 223584 chr19 1007862 1007862 C T rs144432988 GRIN3B Nonsynonymous SNV P736S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 223585 chr19 39980431 39980431 C T rs137968278 TIMM50 Nonsynonymous SNV R232C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 223586 chr4 156863498 156863498 C - rs771663526 CTSO V119Lfs*2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 223587 chr22 31283376 31283376 A T rs139771753 LOC107985544 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.751 223588 chr1 223396669 223396669 C G SUSD4 Nonsynonymous SNV A456P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.042 223589 chr4 164534511 164534511 C T rs538814076 MARCHF1 Nonsynonymous SNV S49N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 223590 chr21 16340034 16340034 T C rs149017808 NRIP1 Synonymous SNV Q160Q 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 0.004 223591 chr19 4207957 4207957 C A rs200294304 ANKRD24 Nonsynonymous SNV P275Q 0 0 0.007 0 0 0 0 2 0 0 0 0 11.28 223592 chr19 1251852 1251852 G A rs769350537 MIDN Synonymous SNV R112R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.68 223593 chr8 125990008 125990008 G A rs7825375 ZNF572 Nonsynonymous SNV V500I 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 13.53 223594 chr4 177049982 177049982 A G rs141438504 WDR17 Nonsynonymous SNV H295R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.3 223595 chr18 72493385 72493385 G A rs200738619 ZNF407 Nonsynonymous SNV V1602I 0 0 0 2 0 0 0.005 0 0 0 0 0 21.7 223596 chr7 31126128 31126128 A G ADCYAP1R1 Nonsynonymous SNV Y246C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 223597 chr19 2251825 2251825 G A rs144513424 AMH Nonsynonymous SNV A518T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 223598 chr21 37602768 37602768 C T rs143088335 DOP1B Synonymous SNV N562N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.754 223599 chr8 134042161 134042161 C T rs778035632 TG Nonsynonymous SNV R2378W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.4 223600 chr8 134474124 134474124 G A rs764268995 ST3GAL1 Synonymous SNV C281C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.784 223601 chr19 3547965 3547965 G A rs769194402 MFSD12 Nonsynonymous SNV R231W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 223602 chr8 142188244 142188244 G A rs769754928 DENND3 Nonsynonymous SNV A929T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.16 223603 chr19 815684 815684 G A rs779957716 PLPPR3 Synonymous SNV F81F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 223604 chr8 143746947 143746947 C A rs782724442 JRK Synonymous SNV G177G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.604 223605 chr8 143783949 143783949 C T rs587766295 LNCOC1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.572 223606 chr19 45430995 45431000 ACAACA - rs532058528 APOC1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 223607 chr19 45648937 45648937 G A rs778059652 PPP1R37 Synonymous SNV G541G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.761 223608 chr8 144464678 144464678 C T rs371349813 RHPN1 Nonsynonymous SNV P624S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.98 223609 chr19 45868096 45868099 TGAG - rs767747355 ERCC2 Stop gain Y173* 0 0 0.003 0 0 0 0 1 0 0 0 0 223610 chr21 43809121 43809121 C T rs146159479 TMPRSS3 Nonsynonymous SNV R80H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.04 223611 chr8 144620824 144620824 C T rs765556938 ZC3H3 Nonsynonymous SNV R238H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.453 223612 chr8 144643938 144643938 G A rs201739470 GSDMD Nonsynonymous SNV A255T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 223613 chr8 144660024 144660024 C T rs200364051 NAPRT Nonsynonymous SNV V106M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 223614 chr14 24736929 24736929 C G rs138412943 RABGGTA Nonsynonymous SNV L430F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 223615 chr8 144733578 144733578 A T rs771121112 ZNF623 Synonymous SNV G512G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.058 223616 chr19 46914835 46914835 G A rs755804234 CCDC8 Synonymous SNV A411A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 223617 chr8 144776349 144776349 C G rs187956380 ZNF707 Synonymous SNV T219T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.688 223618 chr8 144808768 144808768 G T rs782650951 FAM83H Nonsynonymous SNV P955T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 223619 chr19 47423929 47423929 A G rs1011006322 ARHGAP35 Nonsynonymous SNV N666S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.415 223620 chr19 47524394 47524394 C G rs28578816 NPAS1 Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 223621 chr19 47978737 47978737 C G rs201694339 KPTN Nonsynonymous SNV R360T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 223622 chr4 3478159 3478159 C T DOK7 Nonsynonymous SNV A141V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 223623 chr19 1811627 1811627 C T rs763251671 ATP8B3 Nonsynonymous SNV G37S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 223624 chr8 144998301 144998301 C T rs375568532 PLEC Synonymous SNV A1918A 0 0.005 0.007 2 0 2 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.5 223625 chr8 145007153 145007153 G A rs199968254 PLEC Synonymous SNV P501P 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.096 223626 chr8 145057820 145057820 G A rs368400835 PARP10 Nonsynonymous SNV A658V 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 12.34 223627 chr19 49184256 49184256 G A SEC1P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 223628 chr8 145541761 145541761 G A rs144473757 DGAT1 Nonsynonymous SNV R250C 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 19.13 223629 chr21 47987401 47987401 G T rs375762789 DIP2A Nonsynonymous SNV V1524F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 223630 chr8 145622991 145622997 CCACTGC - rs545383870 CPSF1 R724Pfs*83 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 223631 chr8 145623002 145623002 C G rs201590324 CPSF1 Synonymous SNV G722G 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 1.659 223632 chr8 145623004 145623005 CG - rs562635122 CPSF1 G723Pfs*14 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 223633 chr22 18020372 18020372 T C CECR2 Synonymous SNV D426D 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.009 223634 chr14 51196324 51196324 G A rs144624455 NIN Nonsynonymous SNV R1286C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 223635 chr8 145735793 145735793 G A rs61734979 MFSD3 Nonsynonymous SNV V245I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 223636 chr19 8212271 8212271 G A rs771941574 FBN3 Nonsynonymous SNV R32C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.1 223637 chr8 146015749 146015749 C T rs1060859 RPL8 Synonymous SNV V202V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.66 223638 chr8 146033412 146033412 C T ZNF517 Nonsynonymous SNV P364S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.747 223639 chr7 6193889 6193889 C G USP42 Nonsynonymous SNV P902A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 223640 chr19 8553676 8553676 A G HNRNPM Nonsynonymous SNV M576V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 223641 chr22 19799814 19799814 G A rs774377396 GNB1L Synonymous SNV S137S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.487 223642 chr19 49965246 49965246 T A rs202242364 ALDH16A1 Nonsynonymous SNV S289T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 223643 chr19 49965252 49965252 G A rs200248039 ALDH16A1 Nonsynonymous SNV V291M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 223644 chr4 52883382 52883382 G T rs200709873 LRRC66 Nonsynonymous SNV S133Y 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.47 223645 chr19 5238983 5238983 G A rs554924044 PTPRS Nonsynonymous SNV P586L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.71 223646 chr7 73471798 73471798 G C ELN Nonsynonymous SNV G482R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 223647 chr19 5691431 5691431 G A rs774839619 RPL36 Synonymous SNV K65K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.73 223648 chr19 51522321 51522321 C T rs759159097 KLK10 Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 223649 chr8 22267467 22267467 T C SLC39A14 Nonsynonymous SNV F156L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 223650 chr4 7043778 7043778 C G rs59204906 CCDC96 Nonsynonymous SNV K296N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 223651 chr19 52937263 52937263 G C ZNF534 Nonsynonymous SNV C24S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 223652 chr22 30642676 30642676 G C LIF Synonymous SNV V3V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.17 223653 chr8 24771753 24771753 G C rs59222096 NEFM Synonymous SNV A149A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 not provided 13.39 223654 chr19 53085819 53085819 C T rs148977090 ZNF701 Synonymous SNV N169N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.45 223655 chr4 7435314 7435314 C T rs370057756 PSAPL1 Synonymous SNV P431P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 223656 chr19 10468740 10468740 G A rs138652649 TYK2 Synonymous SNV G750G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.109 223657 chr19 10469965 10469965 T C rs533647049 TYK2 Synonymous SNV T687T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.886 223658 chr8 29194903 29194903 G A rs758412658 DUSP4 Synonymous SNV R275R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.97 223659 chr4 78650162 78650162 C T rs779584300 CNOT6L Synonymous SNV E366E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 223660 chr8 30021656 30021656 G A DCTN6 Nonsynonymous SNV C18Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 223661 chr14 77873960 77873960 G A rs147640296 NOXRED1 Synonymous SNV C126C 0 0 0 2 0 0 0.005 0 0 0 0 0 6.746 223662 chr19 54671920 54671920 G A TMC4 Synonymous SNV I264I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.625 223663 chr19 12463809 12463809 G C ZNF442 Nonsynonymous SNV D66E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 223664 chr19 12791914 12791914 G A rs1018505961 DHPS Nonsynonymous SNV P5L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.126 223665 chr8 37702039 37702039 T C rs746102879 BRF2 Nonsynonymous SNV Q410R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 223666 chr19 13318208 13318208 G C rs539546830 CACNA1A Nonsynonymous SNV H2480Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 223667 chr19 14040471 14040471 G A rs771686309 CC2D1A Nonsynonymous SNV R903Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.5 223668 chr8 38184322 38184322 A G rs766116709 NSD3 Nonsynonymous SNV I545T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 223669 chr8 41519440 41519440 C T rs762089498 ANK1 Nonsynonymous SNV R108Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 223670 chr8 42037466 42037466 G A rs762658699 PLAT Synonymous SNV S358S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.76 223671 chr19 55698901 55698901 C T rs138117592 PTPRH Nonsynonymous SNV R671H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 223672 chr19 15198638 15198638 C A rs367766481 OR1I1 Synonymous SNV T254T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.22 223673 chr14 93407996 93407996 C T rs572318884 ITPK1 Synonymous SNV P266P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.78 223674 chr19 15784436 15784436 C T rs201778442 CYP4F12 Nonsynonymous SNV R33C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.01 223675 chr4 89013505 89013505 G T rs747284315 ABCG2 Nonsynonymous SNV Q617K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 223676 chr19 15853056 15853056 C G rs184309267 OR10H3 Nonsynonymous SNV P285R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 223677 chr19 15918433 15918433 G A rs8103631 OR10H1 Nonsynonymous SNV R139W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.54 223678 chr19 15962922 15962922 C T rs7251943 CLEC4O Synonymous SNV X105X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.59 223679 chr14 95657999 95657999 G A rs757593345 CLMN Nonsynonymous SNV L971F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 223680 chr19 16060491 16060491 C A rs114480958 OR10H4 Nonsynonymous SNV A225D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.2 223681 chr19 16265256 16265256 C T rs1014934871 HSH2D Nonsynonymous SNV T142M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.049 223682 chr8 121823619 121823619 G A rs752027501 SNTB1 Synonymous SNV Y155Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.49 223683 chr8 124382144 124382152 TCATCTTCA - rs768368419 ATAD2 D280_D282del 0.001 0 0 0 1 0 0 0 0 0 0 0 223684 chr14 101347803 101347803 C G RTL1 Nonsynonymous SNV R1108P 0 0 0 2 0 0 0.005 0 0 0 0 0 1.608 223685 chr19 10250769 10250769 C T rs201007703 DNMT1 Synonymous SNV S1237S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 223686 chr14 102548127 102548129 ATC - rs770874389 HSP90AA1 D707del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 223687 chr19 17088348 17088348 G T CPAMD8 Nonsynonymous SNV P530T 0 0.003 0 0 0 1 0 0 0 0 0 0 22 223688 chr19 10599937 10599937 C T rs369083385 KEAP1 Nonsynonymous SNV V547I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 223689 chr19 10657763 10657763 G A ATG4D Nonsynonymous SNV G185R 0 0 0 1 0 0 0.003 0 0 0 0 0 32 223690 chr19 11350363 11350363 G A rs749820131 ANGPTL8 Nonsynonymous SNV R17Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.232 223691 chr19 58131915 58131915 C G rs199921766 ZNF134 Nonsynonymous SNV A143G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.242 223692 chr8 98943362 98943362 G C rs200323821 MATN2 Nonsynonymous SNV E108D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 223693 chr8 99960482 99960482 G T rs576571357 OSR2 Nonsynonymous SNV A28S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.969 223694 chr9 100326405 100326405 G A rs142871862 TMOD1 Synonymous SNV K191K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 223695 chr1 1601557 1601557 G A rs377734355 SLC35E2B Synonymous SNV S247S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.74 223696 chr19 59010008 59010008 - A rs752480442 SLC27A5 Frameshift insertion R566Afs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 223697 chr9 102590616 102590618 CAC - rs753648433 NR4A3 H108del 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 223698 chr1 2435628 2435628 C T rs539325166 PLCH2 Nonsynonymous SNV T1076M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.827 223699 chr1 2453232 2453232 C T rs143205050 PANK4 Synonymous SNV S44S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.32 223700 chr19 7083689 7083689 C T rs372991686 ZNF557 Synonymous SNV C409C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 223701 chr9 111903855 111903855 G A rs781029868 FRRS1L Synonymous SNV V210V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 223702 chrX 21675648 21675648 T C KLHL34 Nonsynonymous SNV I87V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.41 223703 chr9 113209243 113209243 C T rs747122560 SVEP1 Nonsynonymous SNV D1400N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 223704 chr9 113243661 113243661 T G SVEP1 Synonymous SNV P742P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.675 223705 chr19 33096764 33096764 C T ANKRD27 Nonsynonymous SNV E824K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 223706 chr15 40322601 40322601 A T rs748493629 EIF2AK4 Nonsynonymous SNV S1535C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 223707 chr19 8203305 8203305 G A rs752990011 FBN3 Nonsynonymous SNV R337W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 223708 chr19 17000676 17000676 C G rs370953951 F2RL3 Synonymous SNV A134A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.743 223709 chr8 144892715 144892715 G A rs138561750 SCRIB Synonymous SNV I488I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 223710 chr8 144906540 144906540 G A rs373126968 PUF60 Synonymous SNV S17S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.09 223711 chrX 46893089 46893089 T C JADE3 Nonsynonymous SNV Y252H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.687 223712 chrX 48418926 48418926 T C rs782487373 TBC1D25 Synonymous SNV L560L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 223713 chrX 54581020 54581020 T G GNL3L Nonsynonymous SNV D447E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 223714 chr19 9047969 9047969 G A rs192519544 MUC16 Nonsynonymous SNV A11221V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.379 223715 chr15 43585039 43585039 C G rs149443794 TGM7 Nonsynonymous SNV V103L 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 23 223716 chrX 71358803 71358803 G A rs780751285 NHSL2 Nonsynonymous SNV E469K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 223717 chr8 145663716 145663716 G C TONSL-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.272 223718 chr15 45814353 45814353 G A rs749321092 SLC30A4 Nonsynonymous SNV P67L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.569 223719 chr1 16069550 16069550 G A rs139059704 TMEM82 Nonsynonymous SNV R66Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.101 223720 chr8 145806361 145806361 G A ARHGAP39 Synonymous SNV G127G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.85 223721 chrX 101909463 101909463 G A rs200333794 GPRASP1 Nonsynonymous SNV E208K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 223722 chr1 16621354 16621354 G A rs369965037 FBXO42 Synonymous SNV S142S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.81 223723 chr19 9213505 9213505 G A rs778292992 OR7G2 Nonsynonymous SNV R160C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.093 223724 chr19 9213847 9213847 G A OR7G2 Nonsynonymous SNV P46S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.121 223725 chr19 9271570 9271570 C G ZNF317 Nonsynonymous SNV P385A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 223726 chr19 9408636 9408636 G A ZNF699 Nonsynonymous SNV S69F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 223727 chrX 110987996 110987996 A T rs748742452 ALG13 Synonymous SNV P932P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 1.593 223728 chr1 102312417 102312417 G A rs192943638 OLFM3 Nonsynonymous SNV S38L 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 17.83 223729 chr19 30021166 30021166 G C VSTM2B Nonsynonymous SNV Q246H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 223730 chr19 40354477 40354477 C T rs150214514 FCGBP Nonsynonymous SNV S5331N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 223731 chr19 40419738 40419738 C G FCGBP Nonsynonymous SNV G1086R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 223732 chr9 130550579 130550579 C G rs202049005 CDK9 Synonymous SNV A173A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 223733 chrX 131228115 131228115 A G FRMD7 Nonsynonymous SNV C98R 0.003 0.005 0 0 3 2 0 0 0 1 0 0 27.3 223734 chr1 109823784 109823784 G A rs372725080 PSRC1 Synonymous SNV A203A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.868 223735 chr1 110031070 110031070 C T rs751765463 ATXN7L2 Nonsynonymous SNV R288C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 223736 chrX 139038361 139038361 A G rs142618562 CXorf66 Synonymous SNV S260S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.044 223737 chr1 22163490 22163490 C G rs973167689 HSPG2 Nonsynonymous SNV G3388A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.33 223738 chrX 140994252 140994252 C A rs145693793 MAGEC1 Nonsynonymous SNV F354L 0.001 0.008 0 1 1 3 0.003 0 0 1 0 0 9.264 223739 chr1 111860364 111860364 C T rs377181497 CHIA Nonsynonymous SNV T20I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 223740 chr19 44112113 44112113 G A rs770279247 ZNF428 Nonsynonymous SNV R75C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 223741 chr8 27995229 27995229 C - rs750724530 ELP3 P189Lfs*8 0.001 0 0 1 1 0 0.003 0 0 0 0 0 223742 chr15 72581968 72581968 C T rs760721959 CELF6 Synonymous SNV A134A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.4 223743 chr8 28932811 28932811 G C rs200434029 KIF13B Nonsynonymous SNV T1503S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.547 223744 chr19 36277646 36277646 C T rs551382423 ARHGAP33 Synonymous SNV P622P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 223745 chr1 25889632 25889632 T G rs6687605 LDLRAP1 Nonsynonymous SNV S202A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 223746 chr19 44501100 44501100 T G ZNF155 Nonsynonymous SNV V364G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.072 223747 chr1 26387783 26387783 G A rs144196126 TRIM63 Synonymous SNV H125H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Likely benign 8.899 223748 chr19 36562483 36562483 T A rs761678528 WDR62 Nonsynonymous SNV V303D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 223749 chr5 169028401 169028401 C T rs147788748 SPDL1 Nonsynonymous SNV P481L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.984 223750 chr1 27875877 27875877 G A rs199652856 AHDC1 Nonsynonymous SNV A917V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.64 223751 chr15 78882809 78882809 C T rs79721430 CHRNA5 Nonsynonymous SNV T359M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.28 223752 chr1 1247651 1247651 C T INTS11 Nonsynonymous SNV R423H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 223753 chr1 29587259 29587259 C T PTPRU Nonsynonymous SNV P330S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 223754 chr8 56675208 56675208 G A TMEM68 Nonsynonymous SNV A104V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 223755 chr5 176308782 176308782 G C rs375199081 HK3 Synonymous SNV T768T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.856 223756 chr19 38708118 38708118 G T DPF1 Synonymous SNV R264R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.89 223757 chr5 176707724 176707724 C G rs61749654 NSD1 Synonymous SNV A1927A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 11.88 223758 chr1 33612827 33612827 G A rs41310426 TRIM62 Nonsynonymous SNV A339V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 223759 chr1 150444622 150444622 C T rs769443803 RPRD2 Synonymous SNV R1040R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 223760 chr1 34663482 34663482 C A rs145927354 C1orf94 Nonsynonymous SNV A326D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 223761 chr9 139837861 139837861 G A FBXW5 Synonymous SNV H97H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.592 223762 chr1 39549929 39549929 - TGTCGGAGTGAGCGGTCT rs376408478 MACF1 S25_Y26insCRSERS 0 0.003 0.003 0 0 1 0 1 0 0 0 0 223763 chr10 115489296 115489296 A G rs61757658 CASP7 Synonymous SNV Q278Q 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.004 223764 chr1 40349146 40349146 A G rs768460327 TRIT1 Synonymous SNV A6A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.871 223765 chr10 115894806 115894806 A G rs375155859 CCDC186 Synonymous SNV C507C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.555 223766 chr5 32090399 32090399 C T rs142210528 PDZD2 Nonsynonymous SNV P2282L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 223767 chr5 32230449 32230449 T C rs1050743635 MTMR12 Nonsynonymous SNV Q450R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 223768 chr19 42222259 42222259 A G rs373389663 CEACAM5 Nonsynonymous SNV S484G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.416 223769 chr9 15459741 15459741 T C rs147131296 SNAPC3 Synonymous SNV F345F 0 0.003 0 0 0 1 0 0 0 0 0 0 4.908 223770 chr1 154530774 154530774 C A rs202059318 UBE2Q1 Nonsynonymous SNV A86S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 15.76 223771 chr1 43675657 43675657 A G rs113433068 CFAP57 Nonsynonymous SNV T667A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 1.219 223772 chr1 43907713 43907713 A G rs139803823 SZT2 Synonymous SNV Q2538Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.067 223773 chr9 100971098 100971098 G A rs147662482 TBC1D2 Nonsynonymous SNV R208C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 223774 chr1 44605244 44605244 G A rs565510774 KLF18 Nonsynonymous SNV T687M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.233 223775 chr9 102866870 102866870 G A rs145303373 INVS Nonsynonymous SNV V23I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 14.3 223776 chr19 50311867 50311867 G A rs749706858 FUZ Nonsynonymous SNV R272C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 223777 chr1 45807716 45807716 G A TOE1 Synonymous SNV Q143Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.462 223778 chr9 27548256 27548256 C T rs750045383 C9orf72 Nonsynonymous SNV R475Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 223779 chr20 47634040 47634040 A T rs151221957 ARFGEF2 Nonsynonymous SNV T1488S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 223780 chr15 100794354 100794354 C T rs145206425 ADAMTS17 Synonymous SNV P354P 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 14.21 223781 chr5 5182242 5182242 A G rs72647742 ADAMTS16 Nonsynonymous SNV Q196R 0.004 0 0 2 5 0 0.005 0 0 0 0 0 0.005 223782 chr5 5190146 5190146 T C rs72647747 ADAMTS16 Synonymous SNV S370S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 10.79 223783 chr5 54416307 54416307 G A rs138979071 CDC20B Synonymous SNV H429H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.836 223784 chr9 396835 396835 T C rs7034926 DOCK8 Synonymous SNV F907F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.554 223785 chr1 159023422 159023422 G A rs202216559 IFI16 Nonsynonymous SNV E673K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 223786 chr19 52826007 52826007 C T rs202115647 ZNF480 Nonsynonymous SNV R459W 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 22 223787 chr19 52877573 52877573 G A ZNF880 Nonsynonymous SNV S54N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 223788 chr5 65892536 65892536 G A MAST4 Nonsynonymous SNV G18D 0.001 0 0 0 1 0 0 0 0 0 0 0 19 223789 chr19 48305388 48305388 G A rs754457350 TPRX1 Stop gain R294X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 223790 chr9 74667281 74667281 G T rs548137700 C9orf57 Synonymous SNV V89V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.167 223791 chr19 48800776 48800776 C G CCDC114 0 0 0 1 0 0 0.003 0 0 0 0 0 19.87 223792 chr5 72469122 72469122 G A rs748138300 TMEM174 Nonsynonymous SNV V18I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.65 223793 chr1 16535374 16535374 C T rs757461488 ARHGEF19 Nonsynonymous SNV R59Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.408 223794 chr1 166593975 166593975 C T FMO9P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.105 223795 chr1 168073857 168073857 C T rs147802262 GPR161 Nonsynonymous SNV V95M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 223796 chr9 894147 894147 G C rs146975077 DMRT1 Synonymous SNV R100R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 7.656 223797 chr19 55098694 55098694 T G rs375101733 LILRA2 Nonsynonymous SNV Y416D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 223798 chr9 91616241 91616241 C T rs200972819 S1PR3 Synonymous SNV T42T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.91 223799 chr5 7707921 7707921 G A rs752098719 ADCY2 Synonymous SNV L457L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 223800 chr9 95274340 95274340 T C ECM2 Nonsynonymous SNV S353G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 223801 chr19 49967707 49967707 C T rs111803922 ALDH16A1 Synonymous SNV H404H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 223802 chr19 49967996 49967996 G A rs10421522 ALDH16A1 Synonymous SNV P464P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 223803 chr1 79101118 79101118 C A IFI44L Nonsynonymous SNV L274M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 223804 chr19 50104797 50104797 G A rs779749262 PRR12 Synonymous SNV P1465P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 223805 chr19 50139921 50139921 G A rs114187560 RRAS Synonymous SNV P136P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 11.01 223806 chr19 50154813 50154813 G A rs75405162 SCAF1 Synonymous SNV S389S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.59 223807 chr1 84962049 84962049 A G rs147803982 RPF1 Nonsynonymous SNV H335R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.27 223808 chr19 50156329 50156329 A G rs3745470 SCAF1 Nonsynonymous SNV T895A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.945 223809 chr19 50156901 50156901 C G rs201476531 SCAF1 Synonymous SNV P1085P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.21 223810 chr5 7892986 7892986 A G rs572087295 MTRR Nonsynonymous SNV H506R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 223811 chr9 98215833 98215833 C T rs147025073 PTCH1 Nonsynonymous SNV V1074I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 223812 chr9 131019439 131019439 G A rs150141269 GOLGA2 Synonymous SNV N960N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.095 223813 chr19 50464164 50464169 ACTGTA - rs751435517 SIGLEC11 Y34_S35del 0 0 0 1 0 0 0.003 0 0 0 0 0 223814 chr19 50475878 50475878 G A rs559643824 SIGLEC16 Nonsynonymous SNV G430R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.613 223815 chr19 50549815 50549815 C T rs140288058 ZNF473 Synonymous SNV N693N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.494 223816 chr1 86919106 86919106 G A rs753707985 CLCA2 Nonsynonymous SNV R737Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 223817 chr5 82833411 82833411 G C rs759562583 VCAN Nonsynonymous SNV G543A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 223818 chr19 50881882 50881882 C T rs34563687 NR1H2 Synonymous SNV S95S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 223819 chr19 50910610 50910610 C T rs2230248 POLD1 Synonymous SNV P571P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.1 223820 chr10 3199703 3199703 C T rs115840214 PITRM1 Nonsynonymous SNV R392Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.37 223821 chr19 50957607 50957607 T - rs368059291 MYBPC2 D665Efs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 223822 chr19 50962478 50962478 G T MYBPC2 Synonymous SNV A902A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.51 223823 chr19 55915823 55915823 G C UBE2S Nonsynonymous SNV L59V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.519 223824 chr9 131696337 131696337 G A rs762452242 PHYHD1 Nonsynonymous SNV A106T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 223825 chr19 55993196 55993196 C T rs770173862 ZNF628 Synonymous SNV T212T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 223826 chr19 55994537 55994537 C T rs774494338 ZNF628 Synonymous SNV G659G 0 0.005 0 0 0 2 0 0 0 0 0 0 6.825 223827 chr19 51325034 51325034 G A KLK1 Nonsynonymous SNV T47I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.536 223828 chr9 132084610 132084610 T G C9orf106 0.001 0 0 0 1 0 0 0 0 0 0 0 3.127 223829 chr1 89734521 89734521 G A rs552587881 GBP5 Nonsynonymous SNV T70M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 223830 chrX 119243237 119243237 G T RHOXF1 Synonymous SNV A156A 0 0.005 0 0 0 2 0 0 0 1 0 0 0.942 223831 chrX 119243238 119243238 G A RHOXF1 Nonsynonymous SNV A156V 0 0.005 0 0 0 2 0 0 0 1 0 0 22.1 223832 chrX 119243239 119243239 C A RHOXF1 Nonsynonymous SNV A156S 0 0.005 0 0 0 2 0 0 0 1 0 0 24.3 223833 chr1 181701903 181701903 C T rs200322209 CACNA1E Nonsynonymous SNV P875L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 223834 chrX 134711251 134711251 C T rs782705900 INTS6L Nonsynonymous SNV T636I 0 0.005 0 0 0 2 0 0 0 1 0 0 23.9 223835 chrX 135433618 135433618 A G rs755535605 ADGRG4 Nonsynonymous SNV N2247S 0 0.005 0 0 0 2 0 0 0 1 0 0 25.5 223836 chr9 134354731 134354731 C G rs752533128 PRRC2B Synonymous SNV T1617T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 223837 chr1 18808701 18808701 C T KLHDC7A Nonsynonymous SNV P409L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 223838 chr16 28848114 28848114 C A rs139800317 ATXN2L Nonsynonymous SNV A1061E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.07 223839 chr1 20072087 20072087 G A rs570405680 TMCO4 Nonsynonymous SNV T272M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 223840 chr19 54722671 54722671 G C rs760420606 LILRB3 Nonsynonymous SNV A488G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.58 223841 chr9 139945550 139945550 C T rs35983961 ENTPD2 Nonsynonymous SNV R193Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 14.18 223842 chr6 12124263 12124263 G A rs773217207 HIVEP1 Nonsynonymous SNV R1412Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.169 223843 chr16 48234327 48234327 C T rs16945930 ABCC11 Nonsynonymous SNV V648I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.43 223844 chr9 140094091 140094091 A G rs60910563 TPRN Nonsynonymous SNV L358P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.376 223845 chr9 140094273 140094273 G C rs147404722 TPRN Nonsynonymous SNV F297L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 26.6 223846 chr9 140137237 140137237 C T rs61729109 TUBB4B Synonymous SNV V189V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.77 223847 chr16 55532302 55532302 G A rs752981351 MMP2 Nonsynonymous SNV A521T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 223848 chrX 50659439 50659439 C T rs151223850 BMP15 Synonymous SNV H337H 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign 5.722 223849 chr9 140267455 140267455 C A rs76623966 EXD3 Nonsynonymous SNV A122S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.62 223850 chr20 3146983 3146983 C T rs148877556 LZTS3 Synonymous SNV P161P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.26 223851 chr4 54439891 54439891 C T rs754299383 LNX1 Synonymous SNV L93L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.16 223852 chr16 57794719 57794719 G A rs781844540 KIFC3 Synonymous SNV H615H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.67 223853 chr1 145541461 145541461 G A rs145072089 ITGA10 Synonymous SNV T940T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.921 223854 chr10 75550775 75550775 C T rs752383812 ZSWIM8 Synonymous SNV A328A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.58 223855 chr1 150312875 150312875 A G rs142080861 PRPF3 Nonsynonymous SNV T402A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.82 223856 chr6 139694353 139694353 C A rs779853791 CITED2 Synonymous SNV L243L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.526 223857 chr16 67574398 67574398 G A rs151099148 RIPOR1 Synonymous SNV Q227Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.884 223858 chr16 67682014 67682014 C T rs369718894 CARMIL2 Synonymous SNV T377T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 223859 chr9 33367587 33367587 C T rs143491414 NFX1 Nonsynonymous SNV P1088L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 223860 chr4 77134635 77134635 A G SCARB2 Nonsynonymous SNV V21A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 223861 chr1 154302929 154302929 C T rs200836965 ATP8B2 Nonsynonymous SNV A49V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.2 223862 chr16 72822328 72822328 C T rs199987777 ZFHX3 Nonsynonymous SNV V2369I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 18.85 223863 chr9 35750335 35750335 A G RGP1 Nonsynonymous SNV D71G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 223864 chr20 25657106 25657106 T C rs140839485 ZNF337 Nonsynonymous SNV Y273C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 223865 chr16 74496069 74496069 G C rs1026760684 GLG1 Nonsynonymous SNV Q976E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 223866 chr1 2160565 2160565 C T rs375024753 SKI Synonymous SNV R120R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.531 223867 chr6 158317863 158317863 G A rs144624939 SNX9 Nonsynonymous SNV G102D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 223868 chr1 155218011 155218011 G A rs150296362 FAM189B Nonsynonymous SNV R459C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.7 223869 chr4 85722852 85722852 G A rs149794168 WDFY3 Nonsynonymous SNV R925W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 223870 chr10 98363798 98363798 T C rs997859870 PIK3AP1 Nonsynonymous SNV S727G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.3 223871 chr22 26937676 26937676 G C rs909311161 TPST2 Nonsynonymous SNV P28R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 223872 chr20 2539216 2539216 C G TMC2 Nonsynonymous SNV P66R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 223873 chr10 123970512 123970512 C T rs114927453 TACC2 Nonsynonymous SNV T269M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 18.22 223874 chr6 166912042 166912042 C T rs756578915 RPS6KA2 Nonsynonymous SNV R136Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 223875 chr20 3127727 3127727 G T FASTKD5 Nonsynonymous SNV P664T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 223876 chr1 22835669 22835669 G T rs749896149 ZBTB40 Nonsynonymous SNV K480N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 223877 chr16 85952348 85952348 G A rs374144564 IRF8 Synonymous SNV R105R 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 9.736 223878 chr9 82264736 82264741 AGAAAA - rs113723978 TLE4 K132_K133del 0.001 0 0 0 1 0 0 0 0 0 0 0 223879 chr16 87782299 87782299 G T KLHDC4 Synonymous SNV T105T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.307 223880 chr16 88688734 88688734 G A rs745545058 ZC3H18 Synonymous SNV P535P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 223881 chr20 13756727 13756729 TCA - rs754363844 ESF1 D275del 0 0 0 2 0 0 0.005 0 0 0 0 0 223882 chr6 26056322 26056322 G A rs147786267 H1-2 Nonsynonymous SNV A112V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.79 223883 chr6 28214801 28214801 C T rs766531827 ZKSCAN4 Nonsynonymous SNV V87M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 223884 chr11 103048523 103048523 C G DYNC2H1 Nonsynonymous SNV A2038G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 223885 chr17 1638980 1638980 G A rs749317908 WDR81 Nonsynonymous SNV R562H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 223886 chr20 32251479 32251479 G A rs929898819 C20orf144 Nonsynonymous SNV E90K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 223887 chr20 32883320 32883320 G A rs145239391 AHCY Nonsynonymous SNV R34C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.4 223888 chr17 3646871 3646871 A T ITGAE Nonsynonymous SNV V787D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 223889 chr10 25314323 25314323 C T rs200181873 THNSL1 Nonsynonymous SNV A724V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.47 223890 chr20 33586195 33586195 C A rs111729674 MYH7B Nonsynonymous SNV T1324K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.15 223891 chr20 33592298 33592298 C T rs866153040 TRPC4AP Nonsynonymous SNV R671H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 223892 chr20 62374112 62374112 G C rs61736645 SLC2A4RG Nonsynonymous SNV A341P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.11 223893 chr20 62608346 62608346 G T rs147038092 SAMD10 Synonymous SNV A141A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.777 223894 chr20 62729843 62729843 A G rs34874539 OPRL1 Synonymous SNV V263V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.946 223895 chr20 37194074 37194074 C A rs745610635 RALGAPB Nonsynonymous SNV A1257D 0 0 0 1 0 0 0.003 0 0 0 0 0 34 223896 chr6 42147035 42147035 T C GUCA1A Nonsynonymous SNV L167P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.3 223897 chr10 31809358 31809358 C T rs765573607 ZEB1 Synonymous SNV N291N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.733 223898 chr6 43305214 43305214 G C ZNF318 Nonsynonymous SNV D2174E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 223899 chr21 33068964 33068964 C A rs906130982 SCAF4 Nonsynonymous SNV A278S 0 0.003 0 0 0 1 0 0 0 0 0 0 20 223900 chr21 33651069 33651069 G C rs11701322 MIS18A Nonsynonymous SNV S86C 0 0.003 0.014 0 0 1 0 4 0 0 0 0 22.3 223901 chr1 27875345 27875345 G C rs773740716 AHDC1 Synonymous SNV P1094P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.28 223902 chr6 46977234 46977234 G A rs140268316 ADGRF1 Nonsynonymous SNV T646I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.821 223903 chrY 21897589 21897589 C A KDM5D Nonsynonymous SNV K178N 0.002 0 0 0 2 0 0 0 1 0 0 0 22.9 223904 chr1 33832980 33832980 G A rs763128463 PHC2 Nonsynonymous SNV S209L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 223905 chr20 56186870 56186870 G A rs140134379 ZBP1 Nonsynonymous SNV R188W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.2 223906 chr1 3424387 3424387 C T rs201364536 MEGF6 Synonymous SNV P587P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.929 223907 chr21 42774028 42774028 G A rs367835831 MX2 Nonsynonymous SNV A516T 0 0.003 0 0 0 1 0 0 0 0 0 0 27 223908 chr20 58587729 58587729 G A rs145571458 CDH26 Nonsynonymous SNV G107S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.18 223909 chr1 1019681 1019681 G C C1orf159 Nonsynonymous SNV S185C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.968 223910 chr1 35658522 35658522 A G rs776287573 SFPQ Synonymous SNV N43N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.284 223911 chr17 7804628 7804628 A C rs751473230 CHD3 Nonsynonymous SNV M1122L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.88 223912 chr1 38027286 38027286 A G rs200794930 DNALI1 Nonsynonymous SNV M176V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.4 223913 chr17 8093038 8093038 C T rs144247363 BORCS6 Nonsynonymous SNV E141K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 223914 chr5 10390477 10390477 T C MARCHF6 Synonymous SNV C42C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.104 223915 chr1 1854450 1854450 G A rs536705748 CFAP74 Nonsynonymous SNV R1553W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 223916 chr10 63978061 63978061 C T RTKN2 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 223917 chr1 42922476 42922476 C G rs777953383 PPCS Synonymous SNV V80V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 223918 chr1 220870039 220870039 C T rs145473048 C1orf115 Nonsynonymous SNV A132V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 16.81 223919 chr21 45670782 45670782 G T rs139511831 DNMT3L Nonsynonymous SNV P274T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.045 223920 chr1 3329167 3329167 G A rs368750536 PRDM16 Synonymous SNV P802P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 8.096 223921 chr21 45750696 45750696 C T rs774917924 CFAP410 Nonsynonymous SNV G217R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.888 223922 chr1 45278674 45278674 G C BTBD19 Nonsynonymous SNV V141L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.8 223923 chr17 11461336 11461336 G A rs7211268 SHISA6 Synonymous SNV P406P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 223924 chr1 6272077 6272077 C T rs369466699 RNF207 Synonymous SNV F420F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.85 223925 chr1 226180236 226180236 C T rs374145200 SDE2 Nonsynonymous SNV R128Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 223926 chr21 47402652 47402652 C T rs137964147 COL6A1 Nonsynonymous SNV R68C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 223927 chr6 89907955 89907955 G A rs370940611 GABRR1 Nonsynonymous SNV T102M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 223928 chr21 30257555 30257555 G T rs147851758 N6AMT1 Nonsynonymous SNV A38E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.971 223929 chr6 90605664 90605664 C T rs76342031 GJA10 Stop gain Q493X 0.003 0.008 0 0 3 3 0 0 0 0 0 0 35 223930 chr22 17280683 17280683 T A rs756130513 XKR3 Synonymous SNV I189I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.659 223931 chr22 17445711 17445711 G A rs141562718 GAB4 Nonsynonymous SNV T321M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.354 223932 chr22 19171096 19171096 C T rs782344707 CLTCL1 Nonsynonymous SNV R1488Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.648 223933 chr21 34635676 34635676 C T rs146627373 IFNAR2 Synonymous SNV S473S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 223934 chr10 79814496 79814496 G A RPS24 Nonsynonymous SNV E200K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.231 223935 chr21 34804606 34804606 T C IFNGR2 Synonymous SNV H228H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.002 223936 chr10 8100732 8100732 C G rs148835259 GATA3 Nonsynonymous SNV P236A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.79 223937 chr21 34931569 34931569 G A SON Nonsynonymous SNV D147N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 223938 chr5 59940611 59940611 C T DEPDC1B Nonsynonymous SNV V224I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 223939 chr11 19954883 19954883 G A NAV2 Nonsynonymous SNV V301M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 223940 chr1 62728945 62728945 G A rs766839940 KANK4 Synonymous SNV R158R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 223941 chr21 38269172 38269172 C T rs143218701 HLCS Nonsynonymous SNV R627H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 223942 chr21 38468915 38468915 - T TTC3 Frameshift insertion C274Lfs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 223943 chr17 29496957 29496957 T A rs112306990 NF1 Nonsynonymous SNV D176E 0 0 0 2 0 0 0.005 0 0 0 0 1 Conflicting interpretations of pathogenicity 17.49 223944 chr22 24581737 24581737 C T rs143630875 SUSD2 Synonymous SNV G393G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.78 223945 chr1 75055346 75055346 T C ERICH3 Synonymous SNV K715K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 223946 chr17 35937659 35937659 C A rs764259271 SYNRG Synonymous SNV G214G 0 0.003 0 2 0 1 0.005 0 0 0 0 0 15.8 223947 chr21 43864742 43864742 C G rs772339380 UBASH3A Nonsynonymous SNV L575V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.125 223948 chr10 98742683 98742683 G A rs201741736 LCOR Synonymous SNV S822S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.84 223949 chr22 28392147 28392147 G A rs538933416 TTC28 Synonymous SNV D1740D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.654 223950 chr21 44839786 44839786 G C rs145582574 SIK1, SIK1B Nonsynonymous SNV P358A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.024 223951 chr17 38936014 38936014 C T rs200226541 KRT27 Nonsynonymous SNV A262T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 223952 chr1 20998522 20998522 C T rs201970835 KIF17 Synonymous SNV L877L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.47 223953 chr1 21044052 21044052 T C rs149468609 KIF17 Nonsynonymous SNV K50E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.2 223954 chr11 43427161 43427161 C T rs372832338 TTC17 Nonsynonymous SNV P526L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 223955 chr1 23762436 23762436 T A rs759935282 ASAP3 Nonsynonymous SNV T544S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 223956 chr7 102716229 102716229 C T ARMC10 Synonymous SNV L49L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.559 223957 chr1 23885912 23885912 C T rs146156581 ID3 Synonymous SNV K2K 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 12.19 223958 chr7 103808944 103808944 T C rs199590591 ORC5 Nonsynonymous SNV D285G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 223959 chr1 24080741 24080741 C T rs776537116 ELOA Synonymous SNV I589I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.05 223960 chr7 105264695 105264695 T C rs184401179 ATXN7L1 Nonsynonymous SNV I284V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.55 223961 chr7 106508919 106508919 G A rs748229046 PIK3CG Nonsynonymous SNV V305M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 223962 chr1 248551146 248551146 C G rs72766981 OR2T6 Synonymous SNV P79P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.704 223963 chr22 37964682 37964682 T C rs200126736 CDC42EP1 Nonsynonymous SNV L344P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.86 223964 chr1 249149589 249149589 T C rs199956332 ZNF692 Nonsynonymous SNV Q298R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 223965 chr20 10622198 10622198 C T rs760765525 JAG1 Synonymous SNV Q942Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 223966 chr20 10653603 10653603 C T rs183974372 JAG1 Nonsynonymous SNV V45M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 223967 chr17 39888511 39888511 C G rs753203067 HAP1 Nonsynonymous SNV E237Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 223968 chr20 17601454 17601454 - G rs572649164 RRBP1 0 0.003 0.003 0 0 1 0 1 0 0 0 0 223969 chr22 24224708 24224708 C T rs373807580 SLC2A11 Nonsynonymous SNV R250C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 223970 chr17 42855210 42855210 C T ADAM11 Synonymous SNV R483R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.32 223971 chr11 10790014 10790014 G A rs143726355 CTR9 Synonymous SNV K695K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.9 223972 chr2 24246059 24246059 C T rs372859192 MFSD2B Synonymous SNV V373V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.44 223973 chr11 1081806 1081806 C T rs370030315 MUC2 Synonymous SNV I578I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 223974 chr1 38269978 38269978 C T YRDC Nonsynonymous SNV G255S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 223975 chr22 29445530 29445530 G A rs761341292 ZNRF3 Nonsynonymous SNV R454H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 223976 chr17 46867403 46867403 C T rs777826279 TTLL6 Synonymous SNV L123L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.118 223977 chr2 26684692 26684692 G A rs144562626 OTOF Nonsynonymous SNV A1112V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.6 223978 chr1 40125111 40125111 C T rs139206635 NT5C1A Synonymous SNV K263K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.01 223979 chr22 50279635 50279635 G C ZBED4 Synonymous SNV V775V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 223980 chr17 48351883 48351883 C T TMEM92 Synonymous SNV P7P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 223981 chr17 48432244 48432244 G A XYLT2 Synonymous SNV V278V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.456 223982 chr22 30886214 30886214 G A rs142674998 SEC14L4 Synonymous SNV N367N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.662 223983 chr17 48605610 48605610 T G MYCBPAP Nonsynonymous SNV L811V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 223984 chr22 50563993 50563993 A G MOV10L1 Nonsynonymous SNV Y581C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 223985 chr22 50719238 50719238 G T rs200080652 PLXNB2 Nonsynonymous SNV P1310T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.23 223986 chr22 32257405 32257405 G A DEPDC5 Nonsynonymous SNV A1028T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.485 223987 chr22 50943021 50943021 G A rs141821853 LMF2 Synonymous SNV L500L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 223988 chr2 31606640 31606640 C T rs749391188 XDH Synonymous SNV S289S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.44 223989 chr1 43777399 43777399 T C TIE1 Nonsynonymous SNV V419A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 223990 chr1 43908515 43908515 C G rs145882968 SZT2 Nonsynonymous SNV T2669S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 7.625 223991 chr20 35504597 35504597 G A rs201439266 TLDC2 Nonsynonymous SNV R7H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 223992 chr7 142983159 142983159 C G TMEM139 Nonsynonymous SNV P37A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.443 223993 chr17 58121407 58121407 T C rs761843854 HEATR6 Synonymous SNV A1021A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.025 223994 chr11 119054000 119054000 C A NLRX1 Nonsynonymous SNV A927D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.52 223995 chr22 37887847 37887847 G A rs146425454 CARD10 Nonsynonymous SNV R927W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 223996 chr1 46035571 46035571 G A rs138720250 AKR1A1 Synonymous SNV G307G 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 12.77 223997 chr20 3784176 3784176 G A rs149394412 CDC25B Synonymous SNV G302G 0 0 0.007 0 0 0 0 2 0 0 0 0 13.3 223998 chr2 42995058 42995058 T C rs113019865 HAAO Nonsynonymous SNV Y214C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.727 223999 chr22 38474419 38474419 C T rs753477846 SLC16A8 Synonymous SNV P497P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 224000 chr22 41277855 41277855 A G rs753043524 XPNPEP3 Nonsynonymous SNV Q88R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.028 224001 chr1 52824084 52824084 G A rs547741349 CC2D1B Synonymous SNV D460D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.889 224002 chr7 151092894 151092894 G A rs201973356 WDR86 Nonsynonymous SNV R232W 0.003 0 0 0 3 0 0 0 0 0 0 0 33 224003 chr1 54870588 54870588 G C rs146457984 SSBP3 Synonymous SNV V24V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.46 224004 chr1 55065067 55065067 T - ACOT11 V288Gfs*34 0 0.003 0 1 0 1 0.003 0 0 0 0 0 224005 chr2 60679782 60679782 A G BCL11A Nonsynonymous SNV F767S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.87 224006 chr20 53260050 53260050 G A rs370151618 DOK5 Synonymous SNV L263L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 224007 chr11 124792656 124792656 G A rs149782549 HEPACAM Nonsynonymous SNV R288C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 224008 chr20 57599557 57599557 C T rs140943896 TUBB1 Nonsynonymous SNV R359W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.2 224009 chr2 235951650 235951650 G A rs373888787 SH3BP4 Nonsynonymous SNV R746Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 224010 chr2 71753416 71753416 G C rs150724610 DYSF Nonsynonymous SNV V375L 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign/Likely benign 12.91 224011 chr7 2317886 2317886 G A rs762240942 SNX8 Nonsynonymous SNV A50V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 224012 chr22 50885826 50885826 C T rs370087082 SBF1 Synonymous SNV A1811A 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 224013 chr22 50899971 50899971 C T rs769707836 SBF1 Synonymous SNV G941G 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 13.63 224014 chr7 2771202 2771202 G C rs774944056 GNA12 Synonymous SNV S177S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.15 224015 chrX 2795303 2795303 C A GYG2 Synonymous SNV L402L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.772 224016 chr11 14501168 14501168 T C rs754147278 COPB1 Synonymous SNV R435R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.356 224017 chr7 31793118 31793118 G A PDE1C Synonymous SNV S670S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 224018 chr1 85484879 85484879 T A rs768772045 MCOLN3 Nonsynonymous SNV D474V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 224019 chr11 17544443 17544443 G A rs749821587 USH1C Nonsynonymous SNV R284W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 224020 chr7 32609654 32609654 T C rs141227977 AVL9 Nonsynonymous SNV M413T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 224021 chrX 23397761 23397761 G A rs746224859 PTCHD1 Synonymous SNV T135T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 224022 chrX 153039983 153039983 G A PLXNB3 Nonsynonymous SNV A1263T 0 0.005 0 0 0 2 0 0 0 1 0 0 0.753 224023 chr2 97215158 97215158 C T ARID5A Nonsynonymous SNV T74M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 224024 chr17 76491057 76491057 T C rs199886712 DNAH17 Nonsynonymous SNV E2009G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.7 224025 chr20 7990913 7990913 C T rs781406456 TMX4 Nonsynonymous SNV A76T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.222 224026 chr7 42971731 42971731 C T rs774096525 PSMA2 Synonymous SNV S9S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 224027 chr21 22746301 22746301 G A NCAM2 Nonsynonymous SNV G246E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 224028 chr1 1267462 1267462 T A TAS1R3 Nonsynonymous SNV F184Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21 224029 chrX 54987296 54987296 A T rs767762591 PFKFB1 Nonsynonymous SNV F28Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 224030 chrX 55784772 55784772 G A rs761824997 RRAGB Nonsynonymous SNV R308H 0 0 0 1 0 0 0.003 0 0 0 0 0 30 224031 chr1 94476377 94476377 C T rs1800552 ABCA4 Nonsynonymous SNV R1898H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 224032 chr11 2191993 2191993 G A rs775961364 TH Nonsynonymous SNV P37L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.62 224033 chrX 69749796 69749796 G A rs201633202 TEX11 Synonymous SNV T858T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.67 224034 chr1 100598738 100598738 C T rs147164592 TRMT13 Nonsynonymous SNV A5V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.773 224035 chr7 4800720 4800720 G A rs200211699 FOXK1 Synonymous SNV A574A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 224036 chrX 77381307 77381307 G A rs782165735 PGK1 Nonsynonymous SNV D412N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 224037 chr2 113514563 113514563 A G rs115154628 CKAP2L Nonsynonymous SNV S129P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 16.14 224038 chr1 109440154 109440154 A C GPSM2 Nonsynonymous SNV N107H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 224039 chr21 34927346 34927346 C A rs573370330 SON Synonymous SNV R1937R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 224040 chr17 80051198 80051198 G A rs143728093 FASN Synonymous SNV I184I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.09 224041 chr21 38568262 38568262 G A rs189165512 TTC3 Nonsynonymous SNV R1113H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.624 224042 chr11 32636402 32636402 T C CCDC73 Nonsynonymous SNV K488E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 224043 chr1 110884493 110884493 T C rs61745292 RBM15 Synonymous SNV T822T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 0.248 224044 chr1 110996652 110996652 C T rs62623571 PROK1 Nonsynonymous SNV R48W 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 25.3 224045 chrX 107018344 107018344 C T rs369782943 TSC22D3 Synonymous SNV L102L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 224046 chrX 107408158 107408158 C G rs753586099 COL4A6 Nonsynonymous SNV D1283H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.4 224047 chrX 107433669 107433669 C T rs34740537 COL4A6 Nonsynonymous SNV R460Q 0 0 0.01 4 0 0 0.01 3 0 0 0 1 Benign 23 224048 chr2 128377965 128377965 C A rs200731168 MYO7B Nonsynonymous SNV T1124K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.351 224049 chrX 114541231 114541251 CACTCAGAGAGATCTCATAGT - rs781838275 LUZP4 I192_L198del 0 0 0 1 0 0 0.003 0 0 0 0 0 224050 chr2 3596676 3596676 C T RNASEH1 Nonsynonymous SNV R153Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 224051 chr2 3597998 3597998 T C rs61738918 RNASEH1 Synonymous SNV A132A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.005 224052 chr2 131888334 131888334 G A PLEKHB2 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 224053 chrX 118220679 118220679 G A rs140657116 KIAA1210 Nonsynonymous SNV S1505L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.527 224054 chrX 118892939 118892939 G A rs201901774 SOWAHD Synonymous SNV P103P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 224055 chr6 25435791 25435791 A G rs867921429 CARMIL1 Nonsynonymous SNV I110M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.139 224056 chr21 45390580 45390580 G A rs771718555 AGPAT3 Nonsynonymous SNV R186H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 224057 chr1 119683118 119683118 T C rs587712701 WARS2-AS1 0 0 0.003 2 0 0 0.005 1 0 0 0 0 6.818 224058 chr21 45655435 45655435 G A rs200543297 ICOSLG, LOC102723996 Synonymous SNV S22S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 224059 chr1 146687489 146687489 G - FMO5 S54Vfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 224060 chr11 47269233 47269233 G A rs199935537 ACP2 Nonsynonymous SNV R54C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 224061 chr21 47421199 47421199 G A rs150938324 COL6A1 Nonsynonymous SNV V619M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.1 224062 chrX 150349591 150349591 T C rs774634647 GPR50 Synonymous SNV H512H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 224063 chr21 47635212 47635212 G A rs201713860 LSS Nonsynonymous SNV A218V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.404 224064 chr11 60892590 60892590 C T CD5 Nonsynonymous SNV P399S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 224065 chrX 152710359 152710359 T C TREX2 Nonsynonymous SNV H177R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 224066 chr1 151735594 151735594 T A rs149861640 MRPL9 Nonsynonymous SNV K61M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 224067 chr7 87049384 87049384 G A rs148052192 ABCB4 Nonsynonymous SNV T775M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.23 224068 chr6 35478755 35478755 C T rs201182765 TULP1 Nonsynonymous SNV E75K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 224069 chr2 167262799 167262799 T G rs748470492 SCN7A Nonsynonymous SNV K1447T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 224070 chr21 47865224 47865224 C T rs572189125 PCNT Nonsynonymous SNV P3135L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 224071 chr21 47918578 47918578 G A rs199555654 DIP2A Nonsynonymous SNV V163I 0.001 0 0.01 0 1 0 0 3 0 0 0 0 14.65 224072 chr11 62288014 62288014 G A rs12793602 AHNAK Synonymous SNV P4625P 0.003 0 0.01 0 3 0 0 3 0 0 0 0 Benign 0.672 224073 chr1 154241383 154241383 C T UBAP2L Stop gain Q1051X 0 0 0 1 0 0 0.003 0 0 0 0 0 41 224074 chr2 171508617 171508617 G A rs761298597 MYO3B 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 224075 chr22 21311489 21311489 C G rs139033673 LINC01637 0 0 0.007 0 0 0 0 2 0 0 0 0 7.018 224076 chr18 44774076 44774076 C T rs141162442 SKOR2 Synonymous SNV S493S 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 8.93 224077 chr2 176964720 176964720 C A HOXD12 Nonsynonymous SNV A64E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 224078 chr1 21268695 21268695 G A rs761664300 EIF4G3 Nonsynonymous SNV L262F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 224079 chr1 22169859 22169859 C T rs192525833 HSPG2 Nonsynonymous SNV G2898R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 224080 chr7 97870232 97870232 T C rs763147618 TECPR1 Synonymous SNV G288G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.106 224081 chr7 98639759 98639759 C T rs149320056 SMURF1 Synonymous SNV P451P 0.001 0.008 0 0 1 3 0 0 0 0 0 0 17.86 224082 chr7 98987567 98987567 C T rs148826187 ARPC1B Synonymous SNV T144T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.17 224083 chr7 99654714 99654714 G A rs372435376 ZSCAN21 Nonsynonymous SNV E29K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 224084 chr7 99798552 99798552 T A STAG3 Nonsynonymous SNV L616Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 224085 chr18 57103355 57103355 C T rs199902030 CCBE1 Nonsynonymous SNV D336N 0 0 0 1 0 0 0.003 0 0 0 0 0 35 224086 chr11 65124090 65124091 GA - TIGD3 E271Gfs*20 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 224087 chr1 3549989 3549989 C T rs767884998 WRAP73 Nonsynonymous SNV G299S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 224088 chr2 189599326 189599326 A C rs759153564 DIRC1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.952 224089 chr11 5364030 5364030 T C rs145231699 OR51B5 Nonsynonymous SNV H242R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 224090 chr2 190927017 190927017 G A rs34191156 MSTN Synonymous SNV S102S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.866 224091 chr8 107670317 107670317 C A OXR1 Nonsynonymous SNV R35S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 224092 chr18 73000480 73000480 A G TSHZ1 Nonsynonymous SNV K1040E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25 224093 chr22 32625324 32625324 T A rs756967934 SLC5A4 Synonymous SNV R379R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.9 224094 chr3 100527069 100527069 C G rs199872794 ABI3BP Nonsynonymous SNV Q536H 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 20.7 224095 chr1 9117543 9117543 G T rs200263461 SLC2A5 Nonsynonymous SNV S86Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27 224096 chr1 161047457 161047457 T G NECTIN4 Synonymous SNV T172T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.626 224097 chr11 66192179 66192179 C T rs141846354 NPAS4 Synonymous SNV P396P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.923 224098 chr19 307384 307384 C T rs555185796 MIER2 Nonsynonymous SNV D415N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.55 224099 chr19 375852 375852 C T rs145337262 THEG Nonsynonymous SNV R40Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.862 224100 chr8 124710715 124710715 C T rs145732784 ANXA13 Nonsynonymous SNV A91T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 224101 chr22 40807799 40807799 G A rs41276311 MRTFA Synonymous SNV L797L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.944 224102 chr19 677865 677865 C T rs755679092 FSTL3 Synonymous SNV A59A 0 0 0 4 0 0 0.01 0 0 0 0 0 14.8 224103 chr22 41745139 41745139 C T rs750421965 ZC3H7B Synonymous SNV I594I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.61 224104 chr8 12968311 12968311 - T DLC1 Frameshift insertion I78Nfs*9 0.002 0 0 0 2 0 0 0 0 0 0 0 224105 chr1 41327309 41327309 T A CITED4 Nonsynonymous SNV Q164L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 224106 chr1 41847698 41847698 G A rs776446053 FOXO6 Synonymous SNV S275S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 224107 chr1 43308202 43308202 G A ERMAP Nonsynonymous SNV D243N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 224108 chr8 139164854 139164854 T C rs763906967 FAM135B Nonsynonymous SNV I622V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 224109 chr19 1466303 1466303 C G rs771763880 APC2 Nonsynonymous SNV H1000Q 0 0 0 4 0 0 0.01 0 0 0 0 0 19.03 224110 chr1 179077416 179077416 G C rs765274634 ABL2 Nonsynonymous SNV P975A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.009 224111 chr1 179078164 179078164 A G rs147272038 ABL2 Synonymous SNV S725S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.217 224112 chr2 219516794 219516794 T C rs183062089 ZNF142 Synonymous SNV R170R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.76 224113 chr11 72554265 72554265 G A rs746447753 FCHSD2 Nonsynonymous SNV R546W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224114 chr8 139833619 139833619 G A rs147969710 COL22A1 Synonymous SNV V335V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.372 224115 chr2 219544732 219544732 C T rs140262814 STK36 Synonymous SNV A355A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 224116 chr19 1785587 1785587 C T rs199711395 ATP8B3 Nonsynonymous SNV V1055I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 224117 chr19 2111699 2111699 C T rs530539281 AP3D1 Synonymous SNV A910A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 224118 chr11 74208380 74208380 C A rs746673041 LOC100287896 Nonsynonymous SNV R144S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.176 224119 chr19 2520656 2520656 G C rs753275850 GNG7 Nonsynonymous SNV R11G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 224120 chr1 182429217 182429217 C T RGSL1 Nonsynonymous SNV H84Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.87 224121 chr22 50485657 50485657 G A TTLL8 Synonymous SNV H147H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.451 224122 chr19 3203841 3203841 A G rs768003552 NCLN Synonymous SNV T296T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.568 224123 chr1 183102616 183102616 C G rs61749263 LAMC1 Synonymous SNV A1260A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 11.1 224124 chr11 76886463 76886463 G A MYO7A Nonsynonymous SNV G714S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 224125 chr11 76886504 76886504 T C rs373656667 MYO7A Synonymous SNV F727F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.166 224126 chr1 186275729 186275729 A G rs765639782 PRG4 Nonsynonymous SNV N159S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.012 224127 chr22 51143271 51143271 C G SHANK3 Nonsynonymous SNV T612R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 224128 chr22 51159624 51159624 C T rs200077311 SHANK3 Synonymous SNV S1107S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.9 224129 chr1 21011433 21011433 C T rs753059794 KIF17 Synonymous SNV P700P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 224130 chr11 7949861 7949861 C T rs148069776 OR10A6 Nonsynonymous SNV A117T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 224131 chr1 22838594 22838594 G A ZBTB40 Nonsynonymous SNV D698N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 224132 chr8 144997503 144997503 G A rs144242254 PLEC Synonymous SNV T2184T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.349 224133 chr2 103095572 103095572 C G rs775025826 SLC9A4 Synonymous SNV L177L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.962 224134 chr1 201333479 201333479 C T rs371142225 TNNT2 Nonsynonymous SNV E131K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 224135 chr1 55573066 55573066 C T rs369441609 USP24 Synonymous SNV T1536T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 224136 chr2 109513591 109513591 C T rs144939741 EDAR Synonymous SNV T373T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.78 224137 chr2 11264842 11264842 G A rs115548395 FLJ33534 0 0 0.003 0 0 0 0 1 0 0 0 0 3.366 224138 chr2 11273621 11273621 C T rs145272608 C2orf50 Nonsynonymous SNV A54V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 224139 chr11 60197301 60197301 G A MS4A5 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 224140 chr11 93826774 93826774 G A rs200108606 HEPHL1 Nonsynonymous SNV R801Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 224141 chr1 67263738 67263738 G A INSL5 Synonymous SNV C122C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.183 224142 chr1 67263739 67263739 C T INSL5 Nonsynonymous SNV C122Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 224143 chr8 17942394 17942394 G C rs1006213868 LOC101929066 0.001 0 0 0 1 0 0 0 0 0 0 0 6.405 224144 chr11 60621178 60621178 T C rs748723747 PTGDR2 Synonymous SNV T6T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 224145 chr19 7975201 7975201 C T MAP2K7 Synonymous SNV T130T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.967 224146 chr2 120439311 120439311 C T TMEM177 Synonymous SNV R294R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 224147 chr11 94731286 94731286 G T rs587654414 KDM4D Synonymous SNV S250S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.552 224148 chr2 121742271 121742271 C T rs200619416 GLI2 Synonymous SNV A636A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.69 224149 chr2 121747372 121747372 G A rs115052795 GLI2 Synonymous SNV T1152T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.895 224150 chr1 28600659 28600659 T A SESN2 Nonsynonymous SNV F337Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 224151 chr1 70646823 70646823 T A LRRC40 Nonsynonymous SNV N203Y 0.002 0 0 0 2 0 0 0 1 0 0 0 24.3 224152 chr1 74937535 74937535 G T rs191221619 LRRC53 Nonsynonymous SNV P591T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.918 224153 chr1 207649706 207649706 G A rs61754518 CR2 Synonymous SNV E889E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 8.276 224154 chr1 208207924 208207924 G A rs200900362 PLXNA2 Nonsynonymous SNV S1593L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 224155 chr1 78205001 78205001 A G rs116240705 USP33 Synonymous SNV P100P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.54 224156 chr1 78392284 78392284 T C NEXN Synonymous SNV L161L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 224157 chr1 85029068 85029068 G A rs138752249 CTBS Nonsynonymous SNV R277W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 224158 chr1 85816143 85816143 G A rs145526350 DDAH1 Synonymous SNV N84N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 224159 chr2 241829445 241829445 C T MAB21L4 Nonsynonymous SNV G291S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 224160 chr1 215802242 215802242 C T rs111033269 USH2A Nonsynonymous SNV V5145I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.6 224161 chr8 27151615 27151615 G A rs147594770 TRIM35 Synonymous SNV D216D 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 7.982 224162 chr1 218578592 218578592 A G rs141548795 TGFB2 Nonsynonymous SNV N143S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 224163 chr1 89656955 89656955 A C GBP4 Nonsynonymous SNV V302G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 224164 chr1 89656956 89656956 C A GBP4 Nonsynonymous SNV V302F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 224165 chr8 27634248 27634248 G C rs147519828 ESCO2 Nonsynonymous SNV Q141H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 20.3 224166 chr1 220324714 220324714 A G RAB3GAP2 Nonsynonymous SNV I1354T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 224167 chr8 3141817 3141817 G T rs553052613 CSMD1 Synonymous SNV V1334V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 224168 chr12 110778719 110778719 C T rs201077970 ATP2A2 Nonsynonymous SNV R673C 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.7 224169 chr1 94495030 94495030 C T rs190370456 ABCA4 Nonsynonymous SNV E1504K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 224170 chr3 10312633 10312633 G A rs115984909 TATDN2 Synonymous SNV V589V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.88 224171 chr2 170147502 170147502 C T rs34693334 LRP2 Nonsynonymous SNV G259S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.628 224172 chr11 64809092 64809092 C T SAC3D1 Synonymous SNV L110L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 224173 chr1 227083175 227083175 C T rs751025333 PSEN2 Synonymous SNV P414P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.41 224174 chr1 228491448 228491448 G T rs767090098 OBSCN Nonsynonymous SNV C4604F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 224175 chr3 15270499 15270499 T C CAPN7 Nonsynonymous SNV S291P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 224176 chr3 15726791 15726791 T G ANKRD28 Synonymous SNV A593A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.244 224177 chr19 10781667 10781667 T C rs200462451 ILF3 Synonymous SNV F7F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.909 224178 chr1 54272159 54272159 G A rs1014355811 NDC1 Nonsynonymous SNV A268V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 224179 chr8 67341723 67341723 C T rs748708898 RRS1 Synonymous SNV R119R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 224180 chr1 54298168 54298168 T C rs199637950 NDC1 Nonsynonymous SNV Y92C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 224181 chr2 179578026 179578026 C T rs778950787 TTN Nonsynonymous SNV M7701I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 224182 chr1 55118958 55118958 G T rs531104510 MROH7 Nonsynonymous SNV R120L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.558 224183 chr2 179579975 179579975 G T TTN Synonymous SNV R7402R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.247 224184 chr1 113059916 113059916 C T rs368272752 WNT2B Synonymous SNV T193T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.78 224185 chr1 55509584 55509584 G A rs147865087 PCSK9 Synonymous SNV E92E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.37 224186 chr12 123333361 123333361 C T rs530896606 HIP1R Nonsynonymous SNV R107W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224187 chr1 237777828 237777828 A G rs3820216 RYR2 Synonymous SNV K1800K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 0.003 224188 chr19 13879789 13879789 C T MRI1 Synonymous SNV G292G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 224189 chr1 238050801 238050801 G A rs35921460 ZP4 Nonsynonymous SNV S205L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.387 224190 chr12 132210175 132210175 A G SFSWAP Nonsynonymous SNV K278E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.954 224191 chr11 71189477 71189477 C T rs147929525 NADSYN1 Nonsynonymous SNV R279W 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 23.7 224192 chr3 41275633 41275633 A G CTNNB1 Nonsynonymous SNV T510A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.39 224193 chr1 150975123 150975123 G A rs866500246 MINDY1 Stop gain Q39X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 224194 chr1 151260858 151260858 C T ZNF687 Synonymous SNV P697P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 224195 chr1 151288740 151288740 G A PI4KB Nonsynonymous SNV T73I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.601 224196 chr1 151379481 151379481 G A rs778929923 POGZ Synonymous SNV C722C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.41 224197 chr1 151694626 151694626 G A rs78151238 RIIAD1 Nonsynonymous SNV S50N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 224198 chr1 151774034 151774034 G T rs181187833 LINGO4 Nonsynonymous SNV P383T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 224199 chr9 107558370 107558370 G A rs766411679 ABCA1 Synonymous SNV S1782S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.535 224200 chr11 74422054 74422054 C G CHRDL2 Nonsynonymous SNV C26S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 224201 chr3 43095128 43095128 A C GASK1A Nonsynonymous SNV H469P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 224202 chr1 152059552 152059552 A G rs115754547 TCHHL1 Synonymous SNV N202N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.211 224203 chr1 152083668 152083668 C T rs185807166 TCHH Synonymous SNV E675E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.15 224204 chr1 152083887 152083887 C A rs115769840 TCHH Synonymous SNV L602L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.2 224205 chr2 20133176 20133176 C T rs377535267 WDR35 Nonsynonymous SNV V882I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 224206 chr1 152127663 152127663 A G rs77415490 RPTN Nonsynonymous SNV S638P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.627 224207 chr1 152128065 152128065 C T rs755311059 RPTN Nonsynonymous SNV G504R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.82 224208 chr11 76507610 76507610 G A rs573127395 TSKU Nonsynonymous SNV R317Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 224209 chr19 16855478 16855478 C T rs886853526 NWD1 Nonsynonymous SNV R149W 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 224210 chr1 152383386 152383386 G A rs115745462 CRNN Synonymous SNV L58L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.31 224211 chr1 152732786 152732786 G A rs143680696 KPRP Nonsynonymous SNV G241E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 224212 chr1 152733183 152733183 C A rs111350576 KPRP Nonsynonymous SNV H373Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.085 224213 chr2 203996753 203996753 C T NBEAL1 Stop gain R1179X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 224214 chr1 87569202 87569202 A G rs780040772 HS2ST1 Synonymous SNV E258E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 224215 chr3 46487942 46487942 C T rs146002167 LTF Nonsynonymous SNV R405K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.09 224216 chr1 153177322 153177322 T C rs199871104 LELP1 Nonsynonymous SNV C47R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 224217 chr11 78380664 78380664 G A rs1034671035 TENM4 Synonymous SNV R2242R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.181 224218 chr2 1457495 1457495 C T rs139312937 TPO Nonsynonymous SNV T171M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.9 224219 chr3 47747930 47747930 T C rs147555056 SMARCC1 Nonsynonymous SNV T337A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.578 224220 chr3 48677377 48677377 C T rs776372947 CELSR3 Nonsynonymous SNV R3214Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 224221 chr2 209036755 209036755 G A rs10932245 C2orf80 Synonymous SNV A137A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.08 224222 chr9 116152886 116152886 C T rs41305619 ALAD Synonymous SNV A148A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 10.83 224223 chr1 155041367 155041367 A G EFNA4 Nonsynonymous SNV S170G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 224224 chr11 837295 837295 C G CD151 Nonsynonymous SNV R133G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.47 224225 chr2 8919071 8919071 C T rs200104720 KIDINS220 Nonsynonymous SNV V858I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 224226 chr2 210650861 210650861 C T rs76851741 UNC80 Synonymous SNV P224P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.52 224227 chr2 210678379 210678379 A G rs61745849 UNC80 Synonymous SNV L338L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.92 224228 chr2 211507277 211507277 C T rs79627159 CPS1 Nonsynonymous SNV T1010M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 224229 chr1 94520768 94520768 G A rs139250920 ABCA4 Nonsynonymous SNV T829M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.95 224230 chr2 10729255 10729255 T C rs140097585 NOL10 Synonymous SNV T560T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.951 224231 chr3 50390738 50390738 T C rs369260588 CYB561D2 Nonsynonymous SNV S78P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 224232 chr1 100534079 100534079 A G rs777531037 MFSD14A Synonymous SNV T252T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 224233 chr2 15701412 15701412 G C NBAS Stop gain S6X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 224234 chr19 19221555 19221555 G A rs200692918 SLC25A42 Nonsynonymous SNV R276Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 224235 chr11 8947178 8947178 C T rs145205197 C11orf16 Nonsynonymous SNV G346S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.82 224236 chr3 55043440 55043440 A G rs202212742 CACNA2D3 Nonsynonymous SNV S949G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 224237 chr1 109325116 109325116 T C rs200615890 STXBP3 Synonymous SNV H294H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.427 224238 chr1 157771979 157771979 C T rs12035302 FCRL1 Synonymous SNV P204P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.986 224239 chr3 62189362 62189362 C T rs143827266 PTPRG Synonymous SNV N631N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.484 224240 chr3 63975907 63975907 G C rs376455162 ATXN7 Nonsynonymous SNV V328L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.67 224241 chr12 4554584 4554584 C T rs780597940 FGF6 Synonymous SNV S51S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 224242 chr12 46240661 46240661 G A rs745890862 ARID2 Synonymous SNV Q507Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.472 224243 chr1 158914733 158914733 G T rs150828296 PYHIN1 Nonsynonymous SNV Q420H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 224244 chr2 220471836 220471836 G C rs781391333 STK11IP Nonsynonymous SNV R399P 0 0 0.007 0 0 0 0 2 0 0 0 0 34 224245 chr2 27351948 27351948 T A ABHD1 Nonsynonymous SNV D137E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.758 224246 chr3 97593966 97593966 A G rs539437568 CRYBG3 Nonsynonymous SNV N1310D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 224247 chr9 128692023 128692023 G A PBX3 Nonsynonymous SNV M127I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 224248 chr3 49735522 49735522 G C rs746934045 RNF123 Synonymous SNV G145G 0.003 0 0 4 3 0 0.01 0 0 0 0 0 9.714 224249 chr1 117660885 117660885 G A rs144145161 TRIM45 Synonymous SNV T331T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 224250 chr2 29456498 29456498 A G ALK Nonsynonymous SNV V807A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.88 224251 chr9 130580453 130580453 G A rs117510900 ENG Synonymous SNV T544T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.271 224252 chr3 50395808 50395808 A G rs757933060 TMEM115 Synonymous SNV P229P 0.003 0 0 4 3 0 0.01 0 0 0 0 0 0.523 224253 chr19 36510206 36510206 C T CLIP3, LOC101927572 Nonsynonymous SNV P40L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.19 224254 chr2 232373982 232373982 C A rs760089156 LINC00471 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 224255 chr1 145578368 145578368 C T rs782355612 PIAS3 Nonsynonymous SNV R111C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 224256 chr2 233386056 233386056 G A rs959302495 PRSS56 Synonymous SNV A41A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 224257 chr12 10954490 10954490 G A TAS2R7 Nonsynonymous SNV T227I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.714 224258 chr3 111688690 111688690 A G rs369574793 PHLDB2 Nonsynonymous SNV I1114V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 224259 chr3 52553558 52553558 A G rs201647537 STAB1 Nonsynonymous SNV K1738R 0.003 0 0 4 4 0 0.01 0 0 0 0 0 14.64 224260 chr9 132636991 132636991 C G rs779313507 USP20 Nonsynonymous SNV T626S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 224261 chr2 236659059 236659059 C T rs142209544 AGAP1 Synonymous SNV N200N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.62 224262 chr19 39396067 39396067 G A rs780942601 NFKBIB Nonsynonymous SNV D85N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.113 224263 chr3 113955726 113955726 G A rs79892855 ZNF80 Stop gain R66X 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 26.6 224264 chr3 113955890 113955890 C T rs112412956 ZNF80 Nonsynonymous SNV G11D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.002 224265 chr2 55200986 55200986 T C RTN4 Nonsynonymous SNV S157G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 224266 chr2 24245713 24245713 C G rs138903557 MFSD2B Nonsynonymous SNV P334A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 27.4 224267 chr12 11905469 11905469 C T rs576945965 ETV6 Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 224268 chr9 136629207 136629207 C T rs752528032 VAV2 Nonsynonymous SNV V833I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 224269 chr1 183094556 183094556 C T rs763761926 LAMC1 Nonsynonymous SNV T891I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 224270 chr2 242794777 242794777 C T rs776298430 PDCD1 Synonymous SNV V144V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.405 224271 chr1 155034379 155034379 G A ADAM15 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 224272 chr2 25469968 25469968 C T rs200905691 DNMT3A Synonymous SNV T206T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.75 224273 chr2 26417474 26417474 C G HADHA Nonsynonymous SNV A552P 0 0 0.003 0 0 0 0 1 0 0 0 0 31 224274 chr1 156347149 156347149 T G rs370957772 RHBG Nonsynonymous SNV L82R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.8 224275 chr2 26677569 26677569 C G rs140913454 DRC1 Nonsynonymous SNV D658E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25.8 224276 chr2 71653823 71653823 A G ZNF638 Synonymous SNV E1608E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.759 224277 chr9 139912088 139912088 G A rs925310004 ABCA2 Synonymous SNV T756T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 224278 chr12 123444519 123444519 G A rs141160734 ABCB9 Synonymous SNV L88L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.475 224279 chr2 29011618 29011618 T C PPP1CB Synonymous SNV D229D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 224280 chr12 6138544 6138544 G A VWF Synonymous SNV H977H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.928 224281 chr3 128757742 128757742 C T rs138572817 EFCC1 Synonymous SNV H553H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 224282 chr12 124950800 124950800 G A rs772776811 NCOR2 Synonymous SNV P208P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.49 224283 chr9 140357195 140357195 G A rs762364688 PNPLA7 Nonsynonymous SNV A1120V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 224284 chr9 140638426 140638426 G A rs778201214 EHMT1 Nonsynonymous SNV D321N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 224285 chr3 130282112 130282112 C A rs201577074 COL6A6 Nonsynonymous SNV P89T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 224286 chr19 45731499 45731499 C A EXOC3L2 Nonsynonymous SNV R39L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 224287 chr2 97475158 97475158 C G rs767548232 CNNM4 Synonymous SNV A744A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.308 224288 chr1 203014503 203014503 C T rs762418418 PPFIA4 Nonsynonymous SNV T225M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.574 224289 chr1 204951056 204951056 T C NFASC Nonsynonymous SNV V804A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 224290 chr3 149093363 149093363 - AGA TM4SF1 S93_V94insS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 224291 chr2 108608572 108608572 C T SLC5A7 Synonymous SNV V63V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.47 224292 chr3 150845753 150845753 G C rs770191959 MED12L Nonsynonymous SNV A180P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.483 224293 chr1 169823556 169823556 C A SCYL3 Nonsynonymous SNV W621L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 224294 chr2 65571976 65571976 G A rs61748095 SPRED2 Synonymous SNV S24S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.99 224295 chr4 134072375 134072375 C G PCDH10 Nonsynonymous SNV F360L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.42 224296 chr2 71043467 71043467 T C rs35381972 CLEC4F Nonsynonymous SNV N349S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 224297 chr2 71148348 71148348 G A rs142434739 VAX2 Nonsynonymous SNV R123H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 224298 chr12 26774091 26774091 C T rs371563713 ITPR2 Nonsynonymous SNV E1143K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 224299 chr1 211956700 211956700 T C rs150552771 LPGAT1 Nonsynonymous SNV K200E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 224300 chr9 5810171 5810171 G A rs755468335 ERMP1 Nonsynonymous SNV T463I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 224301 chr12 95928032 95928032 T C USP44 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 224302 chr2 120194538 120194538 C T rs772027165 TMEM37 Nonsynonymous SNV T32M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.17 224303 chr12 3039419 3039419 T G TULP3 Nonsynonymous SNV S134A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.63 224304 chr1 215812531 215812531 C T rs752423613 USH2A Synonymous SNV T5006T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 224305 chr2 75105840 75105840 C T rs61748096 HK2 Nonsynonymous SNV R353C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 224306 chr2 84846918 84846918 G A rs750343141 DNAH6 Nonsynonymous SNV E1228K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 224307 chr2 128367098 128367098 C G rs759389851 MYO7B Synonymous SNV T944T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.651 224308 chr2 133175239 133175239 C T rs115402751 GPR39 Synonymous SNV S208S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.22 224309 chr3 184049756 184049756 C T rs145427625 EIF4G1 Synonymous SNV D1305D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.05 224310 chr9 88938652 88938652 G C TUT7 Synonymous SNV L548L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.186 224311 chr3 185376141 185376141 C T rs151111656 IGF2BP2 Synonymous SNV P313P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.32 224312 chr1 196398809 196398809 C T rs763356036 KCNT2 Synonymous SNV T239T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.28 224313 chr19 51582098 51582098 G A rs183423924 KLK14 Nonsynonymous SNV P193S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.001 224314 chr2 144714814 144714814 T C rs145121516 GTDC1 Nonsynonymous SNV M231V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 224315 chr2 149227882 149227882 C T rs376037852 MBD5 Synonymous SNV S790S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.24 224316 chr1 198725205 198725205 T A rs375180767 PTPRC Synonymous SNV P1111P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.575 224317 chr19 52249666 52249666 G A rs747540806 FPR1 Synonymous SNV A194A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Likely benign 11.12 224318 chr12 49162738 49162738 C T rs577089201 ADCY6 Synonymous SNV G1121G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.85 224319 chr2 157407209 157407209 A G rs116503732 GPD2 Nonsynonymous SNV I308V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 26.2 224320 chr13 114751211 114751211 G A rs373231993 RASA3 Synonymous SNV F736F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.838 224321 chr1 201972564 201972564 C - rs773630011 RNPEP L253Sfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 224322 chr19 52793388 52793388 A C rs201649981 ZNF766 Nonsynonymous SNV Q115P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.053 224323 chr1 203739987 203739987 G A rs200504528 LAX1 Nonsynonymous SNV G25R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 224324 chr1 234541708 234541708 A C rs751626460 TARBP1 Nonsynonymous SNV D1310E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.165 224325 chr4 651248 651248 G A rs376028657 PDE6B Nonsynonymous SNV V71M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 224326 chr2 167266422 167266422 A G rs375572435 SCN7A Synonymous SNV F1245F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 6.858 224327 chr4 984957 984957 G A rs370208644 SLC26A1 Nonsynonymous SNV R179C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 224328 chr13 28001292 28001292 C T rs551663231 GTF3A Nonsynonymous SNV R89C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 224329 chr3 113672737 113672737 A T rs752245310 ZDHHC23 Nonsynonymous SNV T118S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 224330 chr4 1161342 1161342 A G rs368433954 SPON2 Nonsynonymous SNV V305A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 224331 chr4 1369881 1369881 G A rs146406848 UVSSA Nonsynonymous SNV R498Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 23.7 224332 chr19 53793083 53793083 C T rs138004934 BIRC8 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.53 224333 chr19 54611339 54611339 C T rs193019766 TFPT Synonymous SNV P203P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 224334 chr4 2990498 2990498 C T rs372027080 GRK4 Nonsynonymous SNV R33C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 224335 chr3 121712291 121712291 G T rs35597690 ILDR1 Nonsynonymous SNV S346R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.069 224336 chr19 55445883 55445883 G A rs775203582 NLRP7 Synonymous SNV R815R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.343 224337 chr2 179463900 179463900 C T rs781465190 TTN Nonsynonymous SNV E9809K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 224338 chr3 124951709 124951709 C T ZNF148 Nonsynonymous SNV A621T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 224339 chr3 125238966 125238966 C A rs202086209 SNX4 Nonsynonymous SNV L17F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 224340 chr19 55953763 55953763 C T SHISA7 Synonymous SNV G156G 0 0 0 2 0 0 0.005 0 0 0 0 0 1.601 224341 chr3 126385975 126385975 A G NUP210P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.265 224342 chrX 48324407 48324407 G A SLC38A5 Synonymous SNV P162P 0.002 0 0 0 2 0 0 0 1 0 0 0 9.8 224343 chr13 72440585 72440585 G A rs910228740 DACH1 Nonsynonymous SNV P106L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 224344 chr8 22415669 22415669 C T rs145272490 SORBS3 Nonsynonymous SNV R148W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 224345 chrX 66765158 66765158 - GCAGCAGCAGCAGCAGCAGCAGCA AR Q80_E81insQQQQQQQQ 0.002 0.005 0 1 2 2 0.003 0 1 1 0 0 224346 chr1 249144466 249144466 G A rs746984751 ZNF692 Synonymous SNV S456S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.488 224347 chr1 249150738 249150738 T G rs142892817 ZNF692 Synonymous SNV R172R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.05 224348 chr3 12943012 12943012 A T IQSEC1 Nonsynonymous SNV H814Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 224349 chr12 6030411 6030411 C T rs773278082 ANO2 Nonsynonymous SNV R110H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 224350 chr2 9533695 9533695 C T rs145511943 ASAP2 Nonsynonymous SNV P823L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.219 224351 chr1 228402708 228402710 GGC - OBSCN A580del 0.001 0 0 0 1 0 0 0 0 0 0 0 224352 chr19 57089496 57089496 T C rs148489232 ZNF470 Nonsynonymous SNV C567R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.6 224353 chr1 228559132 228559132 G A rs774691957 OBSCN Nonsynonymous SNV G6885R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 224354 chr2 198011816 198011816 C T rs140879724 ANKRD44 Nonsynonymous SNV R42Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 224355 chr8 27845102 27845102 C T rs372626124 SCARA5 Nonsynonymous SNV V11I 0 0 0 2 0 0 0.005 0 0 0 0 0 20.3 224356 chr3 134348479 134348479 C G rs761257888 KY Nonsynonymous SNV K65N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 224357 chr1 230910306 230910306 G A CAPN9 Synonymous SNV P231P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.221 224358 chr19 57956220 57956220 G A ZNF749 Synonymous SNV Q481Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.551 224359 chr19 58232246 58232246 C T rs78797427 ZNF671 Nonsynonymous SNV G305E 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 25.5 224360 chr19 58805711 58805711 G A rs34451432 ZNF8 Synonymous SNV R179R 0 0 0 2 0 0 0.005 0 0 0 0 0 8.168 224361 chr12 72091204 72091204 T C rs372043674 TMEM19 Nonsynonymous SNV L176P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 224362 chr3 148741914 148741914 C T rs201672568 GYG1 Nonsynonymous SNV T228I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 28.8 224363 chr4 47427939 47427939 G A rs6288 GABRB1 Synonymous SNV L443L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.909 224364 chr2 27306206 27306206 A G rs759797521 EMILIN1 Synonymous SNV Q589Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 224365 chr3 156867365 156867365 C T rs144463229 CCNL1 Nonsynonymous SNV A348T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 224366 chr1 247006019 247006019 C T rs143813373 AHCTF1 Synonymous SNV T2195T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.36 224367 chr2 38973859 38973859 C T rs368346584 SRSF7 Synonymous SNV R201R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.74 224368 chr4 71891623 71891623 A G DCK Nonsynonymous SNV S214G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.68 224369 chr3 172482250 172482250 A G rs140554389 ECT2 Synonymous SNV L386L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.492 224370 chr2 43452507 43452507 C T ZFP36L2 Nonsynonymous SNV G146S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 224371 chr20 3765736 3765738 CTC - rs756447571 CENPB E465del 0 0 0 1 0 0 0.003 0 0 0 0 0 224372 chr20 4202290 4202290 G A rs142980113 ADRA1D Synonymous SNV C533C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 224373 chr4 76517081 76517081 C G rs910750117 CDKL2 Nonsynonymous SNV E523D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 224374 chr14 23393741 23393741 G A rs377613452 PRMT5 Synonymous SNV I170I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 224375 chr3 183521787 183521787 A G rs199525832 YEATS2 Nonsynonymous SNV M1199V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.787 224376 chr14 23771515 23771515 C T rs748130452 PPP1R3E Nonsynonymous SNV A91T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 224377 chr2 55407710 55407710 C G rs139842042 CLHC1 Nonsynonymous SNV L234F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 224378 chr2 225434441 225434441 C G rs376168347 CUL3 Nonsynonymous SNV V17L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.164 224379 chr2 11484142 11484142 T C rs199867337 ROCK2 Nonsynonymous SNV I41V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.767 224380 chr8 135614561 135614561 G A rs199619199 ZFAT Synonymous SNV F405F 0 0 0 1 0 0 0.003 0 0 0 0 0 10 224381 chr3 194152480 194152480 G A rs764501190 ATP13A3 Nonsynonymous SNV T796M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 224382 chr2 71211809 71211809 C T rs61750014 ANKRD53 Synonymous SNV H324H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 7.855 224383 chr2 233537094 233537094 T G rs201148325 EFHD1 Nonsynonymous SNV S80A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 224384 chr20 31625430 31625430 G A rs144547584 BPIFB6 Synonymous SNV T244T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.612 224385 chr4 105412303 105412303 G A CXXC4 Synonymous SNV C219C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.76 224386 chr2 79349971 79349971 G A rs773643336 REG1A Nonsynonymous SNV R109H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 224387 chr14 52508948 52508948 G A rs150406341 NID2 Nonsynonymous SNV T567M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 224388 chr20 35431293 35431293 - GCTCCACCTGCTGCTTCTCACCCTGCAGCC rs778193507 SOGA1 E1101_Q1102insRLQGEKQQVE 0 0 0 1 0 0 0.003 0 0 0 0 0 224389 chr3 21447882 21447882 G C rs180877648 VENTXP7 0 0 0.007 0 0 0 0 2 0 0 0 0 1.03 224390 chr3 25904821 25904821 C T rs576360331 LINC00692 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 224391 chr2 85843448 85843448 C G rs768850385 USP39 Nonsynonymous SNV R44G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 224392 chr13 25425647 25425647 A G rs34209003 RNF17 Synonymous SNV K1082K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.486 224393 chr13 25828564 25828564 T C rs763445618 MTMR6 Nonsynonymous SNV I368M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 224394 chr2 26700098 26700098 C T rs373681505 OTOF Nonsynonymous SNV R132Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 26.5 224395 chr4 119273612 119273612 C T PRSS12 Synonymous SNV P88P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.07 224396 chr3 36898518 36898518 T A rs183460731 TRANK1 Nonsynonymous SNV M855L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 224397 chr2 27683888 27683888 T G rs1032027895 IFT172 Nonsynonymous SNV M839L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 224398 chr4 123170839 123170839 C T rs754511178 KIAA1109 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 224399 chr13 32355865 32355865 T C rs150019046 RXFP2 Synonymous SNV D281D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.023 224400 chr3 38061816 38061816 G A rs367628808 PLCD1 Nonsynonymous SNV A42V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.25 224401 chr2 98828462 98828462 T C VWA3B Nonsynonymous SNV Y260H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 224402 chr4 123843727 123843727 T C rs760753128 NUDT6 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 224403 chr4 125592894 125592894 C T rs763441740 ANKRD50 Nonsynonymous SNV R334H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.75 224404 chr3 38454498 38454498 G A rs537197841 XYLB Synonymous SNV P398P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.861 224405 chr2 32770730 32770730 T G rs748463263 BIRC6 Nonsynonymous SNV S4205A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 224406 chr2 110905596 110905596 C T rs140979636 NPHP1 Nonsynonymous SNV R326H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224407 chr4 147561891 147561891 C A rs138240408 POU4F2 Nonsynonymous SNV N387K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 224408 chr4 147861017 147861017 G A rs374599032 TTC29 Nonsynonymous SNV R11C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.96 224409 chr13 46808396 46808396 C G rs190967213 LRRC63 Nonsynonymous SNV A301G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.87 224410 chr4 151357902 151357902 A G rs760964920 LRBA Nonsynonymous SNV F2299L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 224411 chr4 152201007 152201007 C T rs767496040 PRSS48 Nonsynonymous SNV R38C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 224412 chr2 44527151 44527151 T C SLC3A1 Synonymous SNV F311F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 224413 chr2 48027140 48027140 C T rs864622085 MSH6 Nonsynonymous SNV P543L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.2 224414 chr2 120438906 120438906 G A rs777351633 TMEM177 Synonymous SNV V159V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.664 224415 chr13 61102972 61102972 G A rs776943144 TDRD3 Nonsynonymous SNV S538N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.035 224416 chr3 10312279 10312279 G A rs142035688 TATDN2 Synonymous SNV P471P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9 224417 chr4 155505911 155505911 T G FGA Nonsynonymous SNV S656R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 224418 chr4 156715074 156715074 G A GUCY1B1 Nonsynonymous SNV E120K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 224419 chr13 77566238 77566238 C T rs146993892 CLN5 Nonsynonymous SNV A2V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 224420 chr13 77581471 77581471 G A rs76487761 FBXL3 Synonymous SNV L366L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.977 224421 chr13 77742618 77742618 T C rs141717634 MYCBP2 Nonsynonymous SNV Y2020C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 224422 chr3 47882645 47882645 C T rs766051455 DHX30 Synonymous SNV S215S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 224423 chr3 47958144 47958144 A G rs749582121 MAP4 Synonymous SNV A391A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.052 224424 chr13 86368195 86368195 T C rs375486226 SLITRK6 Nonsynonymous SNV K817E 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 23.8 224425 chr3 13663386 13663386 A G FBLN2 Nonsynonymous SNV Y756C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 224426 chr4 165962129 165962129 A G TRIM60 Nonsynonymous SNV N302S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 224427 chr2 136680437 136680437 T C DARS1 Nonsynonymous SNV N143S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.855 224428 chr2 143798126 143798128 ATT - KYNU I391del 0.001 0 0 0 1 0 0 0 0 0 0 0 224429 chr2 143798131 143798131 T - KYNU P393Rfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 224430 chr4 177069285 177069285 A G rs143922050 WDR17 Nonsynonymous SNV T566A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 224431 chr2 152392230 152392230 T G NEB Nonsynonymous SNV K5395T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 224432 chr3 52088207 52088207 C T DUSP7 Nonsynonymous SNV G234D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 224433 chr14 103523493 103523493 C G CDC42BPB Synonymous SNV R6R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 224434 chr3 37315046 37315046 C G GOLGA4 Nonsynonymous SNV S61W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 224435 chr2 74058166 74058166 C T rs202201322 STAMBP Synonymous SNV I61I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.33 224436 chr4 186336953 186336953 A C rs147049967 UFSP2 Nonsynonymous SNV I134M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 224437 chr2 74682949 74682949 C - INO80B P86Lfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 224438 chr3 38139120 38139120 G A rs202125600 DLEC1 Nonsynonymous SNV V853I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 224439 chr3 38163847 38163847 C A rs201487599 DLEC1 Stop gain C1696X 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 224440 chr3 38407117 38407117 G A rs2234610 XYLB Nonsynonymous SNV D133N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 19.11 224441 chr3 38565706 38565706 A G rs137953389 EXOG Synonymous SNV R270R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.835 224442 chr4 187455609 187455609 C T rs114219953 MTNR1A Nonsynonymous SNV G96D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 224443 chr2 85981818 85981818 C G rs368693659 ATOH8 Nonsynonymous SNV P169R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.034 224444 chr3 39373862 39373862 - ACT rs753918361 CCR8 Y17_P18insY 0 0.003 0 1 0 1 0.003 0 0 0 0 0 224445 chr2 166747445 166747445 G C rs146496725 TTC21B Nonsynonymous SNV L1002V 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 224446 chr3 40553905 40553905 C T rs144633535 ZNF620 Nonsynonymous SNV T55I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.91 224447 chr3 58107161 58107161 C T rs749157393 FLNB Synonymous SNV T1019T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 224448 chr3 44296474 44296474 T C rs146000212 TOPAZ1 Nonsynonymous SNV L927P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.77 224449 chr2 168994698 168994698 T C STK39 Nonsynonymous SNV T292A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 224450 chr14 20869194 20869194 G A rs138962979 TEP1 Nonsynonymous SNV R392W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224451 chr3 78676694 78676694 C T rs201971706 ROBO1 Nonsynonymous SNV V1118M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22 224452 chr3 8794788 8794788 C T rs200007890 OXTR Nonsynonymous SNV A349T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.758 224453 chr3 45136998 45136998 G T rs368595162 CDCP1 Nonsynonymous SNV P363T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.265 224454 chr2 170488279 170488279 A C rs368329323 PPIG Synonymous SNV A255A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.878 224455 chr2 176866988 176866989 AG - rs987908522 LNPK C11Sfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 224456 chr3 9990818 9990818 C T rs750966294 PRRT3 Nonsynonymous SNV A328T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.428 224457 chr2 179435813 179435813 T C TTN Nonsynonymous SNV I15951V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 224458 chr4 100062818 100062818 G A ADH4 Synonymous SNV L46L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.893 224459 chr2 114512849 114512849 T C rs912536506 SLC35F5 Nonsynonymous SNV M50V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 224460 chr5 32090833 32090833 C T rs201958928 PDZD2 Nonsynonymous SNV R2427W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 224461 chr2 122005765 122005765 G A TFCP2L1 Nonsynonymous SNV A160V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 224462 chr15 42575896 42575896 C T rs186306114 GANC Nonsynonymous SNV P169L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.801 224463 chr4 110580211 110580211 A G MCUB Synonymous SNV S48S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.828 224464 chr3 49847793 49847793 G A rs781390167 UBA7 Synonymous SNV L512L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.354 224465 chr21 46074384 46074384 A T rs782173139 KRTAP12-4 Nonsynonymous SNV C50S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.423 224466 chr3 52535766 52535766 C T rs138055453 STAB1 Nonsynonymous SNV H110Y 0 0 0 1 0 0 0.003 0 0 0 0 0 2.648 224467 chr3 52536664 52536664 C T rs140965743 STAB1 Synonymous SNV H168H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.76 224468 chr3 52540809 52540809 G A rs141322414 STAB1 Synonymous SNV P644P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.02 224469 chr3 52546872 52546872 G A rs150311081 STAB1 Nonsynonymous SNV R1019H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 18.35 224470 chr2 196749357 196749357 G A rs772642319 DNAH7 Synonymous SNV V1905V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.329 224471 chr2 136874186 136874186 G A rs145408484 CXCR4 Nonsynonymous SNV R30W 0.001 0 0 0 1 0 0 0 0 0 0 0 8.118 224472 chr3 52559042 52559042 C T rs143799471 NT5DC2 Synonymous SNV T428T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.91 224473 chr2 152320582 152320582 T C rs139535635 RIF1 Synonymous SNV D1516D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.009 224474 chr2 152321110 152321110 T C rs143956653 RIF1 Synonymous SNV C1692C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 224475 chr4 128999109 128999109 G A rs768396456 LARP1B Nonsynonymous SNV R70H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 224476 chr2 152385795 152385795 A T rs191722579 NEB Nonsynonymous SNV S5521T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 224477 chr2 152388309 152388309 G A rs16830170 NEB Synonymous SNV S5472S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 14.59 224478 chr2 152419233 152419233 C T rs148095660 NEB Synonymous SNV Q4560Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.27 224479 chr2 202490843 202490843 G C rs149240122 TMEM237 Synonymous SNV L355L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.842 224480 chr2 152584322 152584322 C T rs200990309 NEB Synonymous SNV Q59Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.702 224481 chr2 204073988 204073988 A G rs750059988 NBEAL1 Nonsynonymous SNV I2547M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 224482 chr2 158272574 158272574 G A rs773889875 CYTIP Nonsynonymous SNV P232L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 224483 chr15 58471414 58471414 G A AQP9 Nonsynonymous SNV A130T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 224484 chr4 144617177 144617177 T C rs1039551663 FREM3 Nonsynonymous SNV D1551G 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 0.002 224485 chr3 57199219 57199234 GCGGCCGGACCCGCCA - IL17RD G28Rfs*35 0 0 0 1 0 0 0.003 0 0 0 0 0 224486 chr4 146041200 146041200 A T rs779446305 ABCE1 Nonsynonymous SNV M347L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 10.61 224487 chr2 206659596 206659596 C T rs757060576 NRP2 Synonymous SNV I848I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 224488 chr4 154502002 154502002 T C rs78217409 TMEM131L Synonymous SNV L229L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.053 224489 chr4 154523845 154523845 G A rs200431688 TMEM131L Nonsynonymous SNV E869K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 224490 chr4 154626180 154626180 T C rs5743705 TLR2 Synonymous SNV F707F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.125 224491 chr22 22869070 22869070 G A ZNF280A Synonymous SNV H295H 0 0 0 3 0 0 0.008 0 0 0 0 0 0.364 224492 chr4 155843 155843 C A rs369590905 ZNF718 Stop gain C456X 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.821 224493 chr22 23630353 23630353 A C rs149898233 BCR Nonsynonymous SNV K866Q 0 0 0 3 0 0 0.008 0 0 0 0 0 24.5 224494 chr22 24982267 24982267 C T LRRC75B Nonsynonymous SNV G179S 0 0 0 3 0 0 0.008 0 0 0 0 0 21.8 224495 chr22 25246374 25246374 G A SGSM1 Nonsynonymous SNV V144M 0 0 0 3 0 0 0.008 0 0 0 0 0 29.5 224496 chr14 66096291 66096292 AG - FUT8 E26Tfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 224497 chr15 72500965 72500965 C T rs147032160 PKM Nonsynonymous SNV R204Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 224498 chr5 81283461 81283461 A G rs758163962 ATG10 Synonymous SNV Q24Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.163 224499 chr15 73996673 73996673 C T rs774907009 CD276 Nonsynonymous SNV T192M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 224500 chr3 111264230 111264230 C T CD96 Synonymous SNV N133N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.53 224501 chr15 74709990 74709990 G A rs142309393 SEMA7A Synonymous SNV G150G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.8 224502 chr2 179422112 179422112 G A rs191482653 TTN Nonsynonymous SNV R20228C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 24.2 224503 chr14 74824126 74824126 G A rs199599167 VRTN Nonsynonymous SNV V214M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 224504 chr2 225729370 225729370 G A rs760100475 DOCK10 Nonsynonymous SNV P495L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 224505 chr14 77795523 77795523 G A rs149972480 GSTZ1 Nonsynonymous SNV A92T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 224506 chr5 96248355 96248355 T G rs770301859 ERAP2 Nonsynonymous SNV V745G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 224507 chr3 119276475 119276475 C T CD80 0 0 0 1 0 0 0.003 0 0 0 0 0 25 224508 chr5 101631965 101631965 A G rs149431208 SLCO4C1 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 224509 chr2 228120774 228120774 C T COL4A3 Synonymous SNV F307F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 224510 chr22 36894069 36894069 C T rs145031169 FOXRED2 Nonsynonymous SNV G361S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.03 224511 chr4 2321954 2321954 T C ZFYVE28 Nonsynonymous SNV K219R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 224512 chr4 2932976 2932976 C A rs199793785 MFSD10 Nonsynonymous SNV C344F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 224513 chr22 38109336 38109336 G C rs368335442 TRIOBP Nonsynonymous SNV S125T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.99 224514 chr4 2934341 2934341 G A rs202141771 MFSD10 Nonsynonymous SNV R173C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 224515 chr4 2952879 2952879 C G rs202023565 NOP14 Nonsynonymous SNV V322L 0.002 0 0.01 0 2 0 0 3 0 0 0 0 9.981 224516 chr4 30724316 30724316 C T rs775115378 PCDH7 Synonymous SNV P424P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.5 224517 chr22 38698989 38698989 G A rs571239023 CSNK1E, TPTEP2-CSNK1E Synonymous SNV C71C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.02 224518 chr22 39482378 39482378 A G rs149026423 APOBEC3G Nonsynonymous SNV Y210C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 224519 chr2 234449337 234449337 A G USP40 Nonsynonymous SNV Y380H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 224520 chr5 74655111 74655111 C T rs118022007 HMGCR Synonymous SNV T705T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.52 224521 chr2 191818302 191818302 G A rs202168519 GLS Synonymous SNV V554V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.66 224522 chr3 124431782 124431782 A G rs201457472 KALRN Synonymous SNV R994R 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 11.29 224523 chr2 196825326 196825326 C T rs374382600 DNAH7 Nonsynonymous SNV R850H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 224524 chr4 4276151 4276151 C T rs757496286 LYAR Nonsynonymous SNV A259T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.686 224525 chr4 44449965 44449965 C T rs994668264 KCTD8 Synonymous SNV A192A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 224526 chr4 44688560 44688560 T - GUF1 L257Wfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 224527 chr5 137895562 137895562 C T rs781187826 HSPA9 Synonymous SNV K467K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 15.76 224528 chr4 48588673 48588673 A G rs757803363 FRYL Synonymous SNV G571G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.523 224529 chr3 130293142 130293142 T C COL6A6 Nonsynonymous SNV L1107P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 224530 chr3 130422727 130422727 G A rs559954378 PIK3R4 Nonsynonymous SNV R980C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 224531 chr4 55961810 55961810 T G KDR Nonsynonymous SNV E917D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 224532 chr3 130743512 130743512 A G rs150304811 ASTE1 Synonymous SNV A213A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.397 224533 chr5 140248583 140248583 A T LOC112267934 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.702 224534 chr2 242741320 242741320 G T rs374753008 GAL3ST2 Nonsynonymous SNV V82L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.139 224535 chr4 57219654 57219654 A C AASDH Nonsynonymous SNV F13V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 224536 chr3 2967323 2967323 A C rs1033799414 CNTN4 Synonymous SNV P78P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.496 224537 chr5 140731073 140731073 G A rs747655305 PCDHGB1 Nonsynonymous SNV V416I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.197 224538 chr5 140768767 140768767 A G rs202220616 PCDHGB4 Nonsynonymous SNV H439R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.095 224539 chr5 140784944 140784944 G T rs763495028 PCDHGA9, PCDHGA9 Nonsynonymous SNV V809L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 224540 chr5 141027026 141027026 T C FCHSD1 Nonsynonymous SNV E256G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 224541 chr3 137822552 137822552 G A rs138845918 DZIP1L Nonsynonymous SNV R88C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 224542 chr2 212537896 212537896 T C rs147639134 ERBB4 Nonsynonymous SNV H570R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 224543 chr22 50313839 50313839 G T CRELD2 Nonsynonymous SNV C120F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 224544 chr22 50316902 50316902 G A rs143760812 CRELD2 Nonsynonymous SNV E237K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 224545 chr4 675854 675854 C T rs768902202 SLC49A3 Nonsynonymous SNV D407N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 224546 chr15 34640284 34640284 A G NUTM1 Nonsynonymous SNV E62G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 224547 chr5 147504333 147504333 G A rs771456490 SPINK5 Nonsynonymous SNV R891Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.58 224548 chr3 149485348 149485348 G T ANKUB1 Nonsynonymous SNV N367K 0 0 0 1 0 0 0.003 0 0 0 0 0 3.866 224549 chr22 50722305 50722305 - G PLXNB2 Frameshift insertion L793Pfs*19 0 0 0 1 0 0 0.003 0 0 0 0 0 224550 chr22 50725570 50725570 T C rs754908392 PLXNB2 Nonsynonymous SNV S578G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.576 224551 chr2 219892614 219892614 C T rs180901678 CFAP65 Nonsynonymous SNV E592K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 224552 chr6 110760013 110760013 G A rs564093468 SLC22A16 Synonymous SNV I407I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.641 224553 chr3 15119590 15119590 G A rs761147758 RBSN Synonymous SNV D330D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.32 224554 chr3 155493639 155493639 T C rs201555682 C3orf33 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 224555 chr3 156746069 156746069 G A rs763997695 LEKR1 Nonsynonymous SNV D516N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 224556 chr10 11908698 11908698 G A rs138741800 PROSER2 Nonsynonymous SNV E103K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 224557 chr15 42363008 42363008 G T rs539570150 PLA2G4D Stop gain Y650X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 224558 chr5 154395530 154395530 C T rs760342797 KIF4B Nonsynonymous SNV T704M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 224559 chr3 172058916 172058916 A C rs144424602 FNDC3B Nonsynonymous SNV E622D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.679 224560 chr2 223065899 223065899 C T rs373840996 PAX3 Synonymous SNV E504E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 224561 chr3 179322329 179322329 G A rs143015870 MRPL47 Synonymous SNV V28V 0 0 0 3 0 0 0.008 0 0 0 0 0 10.28 224562 chr4 8602930 8602930 C T rs145749554 CPZ Nonsynonymous SNV R57W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 224563 chr10 19616569 19616569 A G MALRD1 Synonymous SNV A1218A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.91 224564 chrX 38525479 38525479 C G TSPAN7 Synonymous SNV L62L 0 0 0 2 0 0 0.005 0 0 0 0 1 7.942 224565 chr5 167849049 167849049 A G rs145003784 WWC1 Synonymous SNV R407R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.687 224566 chrX 41075526 41075526 T C rs754780848 USP9X Synonymous SNV D1902D 0 0 0 2 0 0 0.005 0 0 0 0 1 1.697 224567 chr15 50534703 50534703 C T rs16963485 HDC Synonymous SNV T548T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.273 224568 chr15 51696692 51696692 C T rs180954449 GLDN Nonsynonymous SNV T342M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 224569 chr4 88732783 88732783 G C IBSP Synonymous SNV S225S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.516 224570 chrX 55027998 55027998 C T rs61752442 APEX2 Synonymous SNV P59P 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 8.484 224571 chr5 175956340 175956340 G A rs115614966 RNF44 Synonymous SNV V395V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.348 224572 chr4 959731 959731 C T DGKQ Nonsynonymous SNV A522T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.86 224573 chr4 961376 961376 G A rs772866936 DGKQ Synonymous SNV L316L 0 0 0.007 0 0 0 0 2 0 0 0 0 7.303 224574 chr15 56142844 56142844 G T NEDD4 Nonsynonymous SNV P762T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.267 224575 chr5 10381943 10381943 A G rs753796001 MARCHF6 Synonymous SNV P74P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.496 224576 chr2 234243694 234243694 C - SAG L299Wfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 224577 chr3 44611751 44611751 T C rs139498694 ZKSCAN7 Synonymous SNV Y232Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 224578 chr5 111598197 111598197 G A rs200335056 EPB41L4A Synonymous SNV P212P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 224579 chr5 111754696 111754696 T C rs199684882 EPB41L4A Nonsynonymous SNV E14G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 224580 chr5 118505977 118505977 T A rs200947152 DMXL1 Nonsynonymous SNV S1831T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.809 224581 chr15 64966158 64966158 C T rs144934139 ZNF609 Nonsynonymous SNV R369W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224582 chr3 47450563 47450563 C T rs145771357 PTPN23 Nonsynonymous SNV P417L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.56 224583 chr5 126778804 126778804 C T rs150095036 MEGF10 Nonsynonymous SNV A826V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.8 224584 chr5 129241012 129241012 G A rs180709680 CHSY3 Nonsynonymous SNV A164T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.41 224585 chrX 140993746 140993746 A G rs763668313 MAGEC1 Nonsynonymous SNV T186A 0 0 0 2 0 0 0.005 0 0 0 0 1 0.069 224586 chr5 130883808 130883808 G A rs780226862 RAPGEF6 Nonsynonymous SNV R143W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 224587 chr2 241468861 241468861 G A rs147984796 ANKMY1 Synonymous SNV D93D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 224588 chrX 152806991 152806991 C T ATP2B3 Nonsynonymous SNV A128V 0.002 0 0 2 2 0 0.005 0 0 0 0 1 12.68 224589 chr2 242007209 242007209 C G SNED1 Nonsynonymous SNV T1014S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 224590 chrX 153418456 153418456 G A rs949430 OPN1LW Synonymous SNV R151R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.757 224591 chr3 52426617 52426617 G A rs576109373 DNAH1 Nonsynonymous SNV R3397Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 224592 chr4 1283710 1283710 G C rs376851044 MAEA Synonymous SNV V3V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.11 224593 chr4 1643204 1643204 C T rs144405478 FAM53A Nonsynonymous SNV C338Y 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 1.854 224594 chr10 61828824 61828827 CTGG - ANK3 P3938Rfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 224595 chr6 13977920 13977920 T G rs41267690 RNF182 Synonymous SNV G190G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.122 224596 chr2 242573242 242573242 C T rs958856255 THAP4 Synonymous SNV G110G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 224597 chr6 16327918 16327918 - TGA rs750728642 ATXN1 Q207_Q208insH 0.003 0.003 0 0 4 1 0 0 0 0 0 0 224598 chr6 20126808 20126808 C T rs150830540 MBOAT1 Synonymous SNV K218K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 224599 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 224600 chr5 140180952 140180952 C A rs542094254 PCDHA3 Nonsynonymous SNV A57E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.963 224601 chr3 56787589 56787589 G A ARHGEF3 Synonymous SNV I133I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 224602 chr4 4440147 4440147 T C rs376948946 STX18 Nonsynonymous SNV E115G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.76 224603 chr3 58084572 58084572 G A FLNB Nonsynonymous SNV V428I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.08 224604 chr3 64184618 64184618 G C rs780543148 PRICKLE2-AS3 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 224605 chr16 58230657 58230657 C T CSNK2A2 Nonsynonymous SNV V66M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 224606 chr5 140870047 140870047 C T rs564439931 PCDHGC5 Nonsynonymous SNV R414W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 224607 chr5 141244249 141244249 C T rs139152884 PCDH1 Synonymous SNV P170P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 224608 chr5 145838636 145838641 CAGGCC - rs770017912 TCERG1 A241_Q242del 0 0 0.003 0 0 0 0 1 0 0 0 0 224609 chr4 7873695 7873695 T C rs62636597 AFAP1 Synonymous SNV R37R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.112 224610 chr4 7941649 7941649 C A rs373398875 LOC389199 Nonsynonymous SNV R253S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.71 224611 chr4 8442764 8442764 C G TRMT44 Nonsynonymous SNV P72R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 224612 chr4 8454658 8454658 C G TRMT44 Nonsynonymous SNV S117C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 224613 chr3 16264250 16264250 C A GALNT15 Nonsynonymous SNV H116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 224614 chr3 19921295 19921295 A G rs574467303 EFHB Nonsynonymous SNV I777T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 224615 chr3 20026985 20026985 C G PP2D1 Nonsynonymous SNV A594P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 224616 chr10 122650267 122650267 A G rs749288151 WDR11 Nonsynonymous SNV T795A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.84 224617 chr3 36897412 36897412 A G rs763864250 TRANK1 Synonymous SNV D1223D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.244 224618 chr4 38830295 38830295 A C TLR6 Nonsynonymous SNV V267G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.95 224619 chr3 113724658 113724658 G T rs753171237 CCDC191 Nonsynonymous SNV T500N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.396 224620 chr15 91424595 91424595 T C rs756811272 FURIN Synonymous SNV D624D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 224621 chr5 156590269 156590269 A G FAM71B Nonsynonymous SNV I336T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.618 224622 chr3 39226095 39226095 C T rs753548299 XIRP1 Synonymous SNV K297K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.773 224623 chr3 121155119 121155119 C T rs3218635 POLQ Nonsynonymous SNV E2465K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224624 chr5 16067868 16067868 T C rs200306280 MARCHF11 Synonymous SNV R307R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 224625 chr5 161302590 161302590 G A rs200750234 GABRA1 Synonymous SNV P167P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.23 224626 chr5 161324212 161324212 C A rs41308303 GABRA1 Synonymous SNV G385G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.94 224627 chr4 47589122 47589122 C T ATP10D Synonymous SNV C1280C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.92 224628 chr3 121712805 121712805 G A rs3915061 ILDR1 Nonsynonymous SNV P175L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 224629 chr16 11770158 11770158 C T SNN Synonymous SNV P81P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.35 224630 chr4 55593437 55593437 G A rs55792975 KIT Nonsynonymous SNV V532I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 12 224631 chr5 171520917 171520917 G C STK10 Nonsynonymous SNV S351R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.842 224632 chr5 175777708 175777708 G T rs374948228 KIAA1191 Synonymous SNV R42R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 224633 chr3 45266721 45266721 C T TMEM158 Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 224634 chr4 70460940 70460940 G T rs142656113 UGT2A1, UGT2A2 Nonsynonymous SNV P307T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 224635 chr6 55216233 55216233 A C rs150000020 GFRAL Nonsynonymous SNV M185L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.1 224636 chr3 126737257 126737257 G T rs777913150 PLXNA1 Nonsynonymous SNV V1261L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 224637 chr3 47284623 47284623 C T KIF9 Nonsynonymous SNV D543N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 224638 chr6 71298411 71298411 G A rs200376688 SDHAF4 Nonsynonymous SNV R104H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 224639 chr5 179233524 179233524 G C MGAT4B Synonymous SNV L20L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 224640 chr5 180219516 180219516 G A rs72549458 MGAT1 Synonymous SNV I152I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.28 224641 chr3 50313124 50313140 TCTCGCCCCAAGACTCG - rs782691239 SEMA3B D226Vfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 224642 chr16 88495880 88495880 G A ZNF469 Nonsynonymous SNV A668T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 224643 chr4 88403654 88403654 C T rs1009564107 SPARCL1 Stop gain W405X 0 0 0 1 0 0 0.003 0 0 0 0 0 48 224644 chr3 137892465 137892465 A G rs149713635 DBR1 Synonymous SNV Y67Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.852 224645 chr3 138669133 138669133 A C FOXL2NB Nonsynonymous SNV K83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 224646 chr4 90857520 90857520 C A rs41279299 MMRN1 Nonsynonymous SNV Q897K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.51 224647 chr3 142740337 142740337 C G rs757188721 U2SURP Synonymous SNV G264G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 224648 chr3 147131269 147131269 C G rs142514189 ZIC1 Synonymous SNV S425S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.92 224649 chr10 33018276 33018276 - A rs755800480 CCDC7 Frameshift insertion D936Gfs*5 0.001 0 0 1 1 0 0.003 0 0 0 0 0 224650 chr4 102030183 102030183 G A rs757635667 PPP3CA Synonymous SNV V104V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.05 224651 chr3 152880599 152880599 T C rs765178453 RAP2B Synonymous SNV F39F 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.164 224652 chr5 42718205 42718205 C T rs765145823 GHR Synonymous SNV I287I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.13 224653 chr3 58552369 58552369 G C rs372110203 FAM107A Synonymous SNV V127V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.17 224654 chr3 62118314 62118314 C T rs145318908 PTPRG Synonymous SNV I218I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 224655 chr5 434227 434227 A G AHRR Nonsynonymous SNV S462G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 224656 chr4 104640557 104640557 A G rs200917910 TACR3 Synonymous SNV Y92Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.953 224657 chr3 66430876 66430876 C T rs781333761 LRIG1 Synonymous SNV P1031P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 224658 chr6 109319741 109319741 G A rs150654249 SESN1 Nonsynonymous SNV P257L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.02 224659 chr3 160960401 160960401 A T rs151052356 NMD3 Nonsynonymous SNV D326V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 224660 chr4 110236650 110236650 A G rs147485243 COL25A1-DT 0 0 0 1 0 0 0.003 0 0 0 0 0 7.866 224661 chr4 110737426 110737426 - GAGGCGGCGGCAATTTCA rs751178188 GAR1 G45_R46insNFRGGG 0 0 0 1 0 0 0.003 0 0 0 0 0 224662 chr4 111430963 111430963 G A rs34631771 ENPEP Synonymous SNV Q398Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.25 224663 chr5 54516613 54516613 G A rs199825346 MCIDAS Nonsynonymous SNV R247W 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 224664 chr4 114275014 114275014 C G rs200628845 ANK2 Nonsynonymous SNV P1747R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 20.5 224665 chr3 180372659 180372659 C T rs752180569 CCDC39 Nonsynonymous SNV G274E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.97 224666 chr6 119136089 119136089 G T MCM9 Synonymous SNV T1110T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.711 224667 chr3 184428718 184428718 C - MAGEF1 A298Pfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 224668 chr5 74412488 74412488 C T rs80011569 ANKRD31 Nonsynonymous SNV R1296Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.11 224669 chr17 17919423 17919423 C T DRC3 Nonsynonymous SNV H458Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28 224670 chr16 4432048 4432048 C A rs560441052 VASN Synonymous SNV P390P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.665 224671 chr6 130762984 130762984 G A rs755608432 TMEM200A Nonsynonymous SNV E473K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 224672 chr4 141484518 141484518 C T rs769473091 UCP1 Synonymous SNV A160A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.08 224673 chr5 78340164 78340164 T A DMGDH Nonsynonymous SNV K319N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 224674 chr16 4939053 4939053 C G rs142496602 PPL Nonsynonymous SNV D775H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 224675 chr6 146956536 146956536 C G ADGB Nonsynonymous SNV Q34E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.288 224676 chr5 80626307 80626307 A C ACOT12 Nonsynonymous SNV L525R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 224677 chr3 194080083 194080083 A C rs1020230145 LRRC15 Nonsynonymous SNV C564G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 224678 chr4 155720522 155720522 A G rs757978041 RBM46 Nonsynonymous SNV N403S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.07 224679 chr5 884117 884117 G A rs370201498 BRD9 Nonsynonymous SNV A248V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 224680 chr11 640003 640003 C G DRD4 Nonsynonymous SNV R252G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.49 224681 chr16 58030761 58030763 GAG - rs757590261 ZNF319 S471del 0.001 0 0 0 1 0 0 0 0 0 0 0 224682 chr5 94876467 94876467 T G TTC37 Nonsynonymous SNV H157P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 224683 chr4 175162295 175162295 T C rs747934426 FBXO8 Synonymous SNV T177T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.411 224684 chr10 83992634 83992634 G C rs1029690732 NRG3-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.067 224685 chr3 130733046 130733046 - T rs765255269 ASTE1 Frameshift insertion R632Kfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 224686 chr6 109748082 109748082 C T rs143614248 PPIL6 Nonsynonymous SNV R168Q 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 29.8 224687 chr6 109773511 109773511 T C MICAL1 Nonsynonymous SNV E257G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 224688 chr17 33269814 33269814 C T rs376851436 CCT6B 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.1 224689 chr6 109983800 109983800 A C AK9 Stop gain L133X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 224690 chr10 91198521 91198521 C T rs578168671 SLC16A12 Nonsynonymous SNV V290I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 224691 chr10 93841197 93841197 C T rs775293564 CPEB3 Synonymous SNV T569T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.49 224692 chr16 70429012 70429012 G A rs143646582 ST3GAL2 Nonsynonymous SNV P136S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 224693 chr3 145804625 145804625 A C PLOD2 Nonsynonymous SNV I359R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 224694 chr3 145924422 145924422 C A rs138338377 PLSCR4 Nonsynonymous SNV R67L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.388 224695 chr10 96602617 96602617 C T rs59734894 CYP2C19 Nonsynonymous SNV R329C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.65 224696 chr5 1394855 1394855 C G SLC6A3 Nonsynonymous SNV V620L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.96 224697 chr3 150883709 150883709 T A MED12L Nonsynonymous SNV N478K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 224698 chr3 151155572 151155572 - AAG rs751161807 IGSF10 F286_D287insF 0.001 0 0 0 1 0 0 0 0 0 0 0 224699 chr6 123101567 123101567 G A FABP7 Nonsynonymous SNV E69K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 224700 chr17 38100811 38100811 C T rs532269168 LRRC3C Nonsynonymous SNV R218W 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 27.5 224701 chr7 2638163 2638163 C G rs201527451 IQCE Nonsynonymous SNV S437C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.08 224702 chr5 14297183 14297183 C T rs56035446 TRIO Synonymous SNV N393N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 13.59 224703 chr7 4249792 4249792 A G rs751233451 SDK1 Nonsynonymous SNV Q333R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 224704 chr6 136560720 136560720 C T rs147631179 MTFR2 Synonymous SNV P251P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 224705 chr6 136681926 136681926 T G rs181208871 MAP7 Nonsynonymous SNV E477A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 224706 chr4 18023333 18023333 A G rs942593850 LCORL Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.212 224707 chr17 39183272 39183272 C T rs770343138 KRTAP1-5 Nonsynonymous SNV G46R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.406 224708 chr3 178927470 178927470 C T rs778934157 PIK3CA Synonymous SNV G411G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 224709 chr6 144508353 144508353 G A rs141499372 STX11 Nonsynonymous SNV V197M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24 224710 chr6 148865933 148865933 G A rs141946222 SASH1 Synonymous SNV T870T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.39 224711 chr3 184070526 184070526 T C CLCN2 Nonsynonymous SNV E695G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 224712 chr3 184070528 184070528 C G CLCN2 Synonymous SNV S694S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 224713 chr6 152668337 152668337 G T rs755560676 SYNE1 Nonsynonymous SNV R3908S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 224714 chr11 104899873 104899873 G A rs138314317 CASP1 Synonymous SNV I307I 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 13.4 224715 chr5 60768821 60768821 A T rs948198249 ZSWIM6 Synonymous SNV A330A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.511 224716 chr16 88497443 88497443 C A rs766878740 ZNF469 Nonsynonymous SNV P1189T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 224717 chr5 64956595 64956595 G A rs202035175 TRAPPC13 Synonymous SNV K93K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.11 224718 chr3 194080461 194080461 G A LRRC15 Nonsynonymous SNV L438F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 224719 chr4 68925094 68925094 G A rs142412240 TMPRSS11F Nonsynonymous SNV P370S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.58 224720 chr3 194408302 194408302 G T rs73200549 FAM43A Nonsynonymous SNV K249N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 25.9 224721 chr17 4444829 4444829 T C rs201967817 MYBBP1A Nonsynonymous SNV K1076E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 224722 chr6 166353583 166353583 G A rs2293182 LINC00473 0 0 0.003 0 0 0 0 1 0 0 0 0 5.613 224723 chr7 39503909 39503909 C T rs765276305 POU6F2 Nonsynonymous SNV T596I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 224724 chr3 196235191 196235191 A G rs73891273 SMCO1 Nonsynonymous SNV M71T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 224725 chr7 39611920 39611920 T C rs138927441 YAE1 Nonsynonymous SNV L99S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.22 224726 chr16 89293722 89293722 C T rs200541139 ZNF778 Synonymous SNV C314C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.577 224727 chr17 4647567 4647567 G A rs138337241 ZMYND15 Synonymous SNV V487V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.328 224728 chr4 77676174 77676174 C T rs778822989 SHROOM3 Nonsynonymous SNV P1513L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 224729 chr11 114465423 114465423 G T rs754109857 NXPE4 Nonsynonymous SNV S20Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 224730 chr7 45743273 45743273 C T rs181110167 ADCY1 Synonymous SNV I882I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 224731 chr6 25600643 25600643 T C CARMIL1 Nonsynonymous SNV I1074T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 224732 chr5 93159963 93159963 G A FAM172A Nonsynonymous SNV S156F 0 0 0 2 0 0 0.005 0 0 0 0 0 32 224733 chr4 2077199 2077199 G A rs139878687 POLN Nonsynonymous SNV P812L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 224734 chr17 1359208 1359208 G C rs61762263 CRK Synonymous SNV R68R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.479 224735 chr17 4937436 4937436 A C SLC52A1 Synonymous SNV T116T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 224736 chr6 28294537 28294537 A G rs761274986 ZSCAN31 Synonymous SNV D50D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 224737 chr5 102895127 102895127 C T rs35391298 NUDT12 Synonymous SNV L65L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.729 224738 chr4 98633870 98633870 - AGTA STPG2 Frameshift insertion P434Yfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 224739 chr7 64453036 64453036 A G rs751126280 ERV3-1 Synonymous SNV V123V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.289 224740 chr7 66406890 66406890 A G TMEM248 Nonsynonymous SNV Y13C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 224741 chr7 73115120 73115120 A G rs141985965 STX1A Nonsynonymous SNV M228T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 224742 chr7 73752920 73752920 C T rs554341269 CLIP2 Synonymous SNV N88N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.05 224743 chr5 112920150 112920150 A G YTHDC2 Nonsynonymous SNV S967G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 224744 chr5 114607097 114607099 TCT - rs769520015 CCDC112 E382del 0 0 0 1 0 0 0.003 0 0 0 0 0 224745 chr17 59770810 59770810 G A rs876658785 BRIP1 Synonymous SNV N852N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.746 224746 chr4 108566051 108566051 C G PAPSS1 Nonsynonymous SNV Q471H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 224747 chr17 182956 182956 T G rs4627431 LOC100506388 0.004 0 0 0 5 0 0 0 0 0 0 0 2.214 224748 chr4 109805343 109805343 C T rs746222444 COL25A1 Synonymous SNV P333P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 224749 chr6 39016675 39016675 G A rs10305421 GLP1R Nonsynonymous SNV R20K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.11 224750 chr6 39159260 39159260 G A rs151295590 KCNK5 Synonymous SNV N302N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.755 224751 chr7 2606786 2606786 G A IQCE Nonsynonymous SNV D25N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 224752 chr7 90356118 90356118 C T CDK14 Nonsynonymous SNV P75S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 224753 chr7 91855891 91855891 T C rs143710815 KRIT1 Synonymous SNV G317G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 2.254 224754 chr17 64881273 64881273 C T rs773065064 CACNG5 Synonymous SNV S248S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 224755 chr4 8620172 8620172 A G rs146874641 CPZ Nonsynonymous SNV K496R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 224756 chr6 43029082 43029082 C T KLC4 Synonymous SNV G3G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 224757 chr6 43230995 43230995 G T TTBK1 Nonsynonymous SNV Q631H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.661 224758 chr17 263234 263263 GGCCCTCAAGGGCTTCCACCCCGACCCCGA - rs782128738 C17orf97 E210_P219del 0.003 0 0 0 3 0 0 0 0 0 0 0 224759 chr7 100285171 100285171 G C rs139871975 GIGYF1 Synonymous SNV P110P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 224760 chr4 25419907 25419907 C T rs775248115 ANAPC4 Nonsynonymous SNV S778L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 224761 chr7 100456701 100456701 C G rs781492614 SLC12A9 Nonsynonymous SNV P156A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 224762 chr4 38799557 38799557 A G rs1020634698 TLR1 Nonsynonymous SNV L299S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 224763 chr4 146101100 146101100 T C rs778661827 OTUD4 Nonsynonymous SNV D9G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 224764 chr11 17537820 17537820 G A rs780885203 USH1C Nonsynonymous SNV R410C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 35 224765 chr6 52101874 52101874 A G IL17F Nonsynonymous SNV I116T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 224766 chr6 52701066 52701066 G A GSTA5 Synonymous SNV N80N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.842 224767 chr6 555967 555967 A G rs773953554 EXOC2 Nonsynonymous SNV I660T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 224768 chr6 6003435 6003435 T C NRN1 Nonsynonymous SNV I34V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 224769 chr17 73754161 73754161 A C rs747793390 GALK1 Nonsynonymous SNV D385E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 224770 chr17 73895726 73895726 T C rs368523779 MRPL38 Nonsynonymous SNV E247G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 224771 chr6 75816177 75816177 T G rs757134644 COL12A1 Synonymous SNV P1548P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 224772 chr4 73956839 73956839 G C rs765813485 ANKRD17 Nonsynonymous SNV P1918R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 224773 chr6 78538723 78538723 T C rs116566126 MEI4 Nonsynonymous SNV S282P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 224774 chr4 74306447 74306447 A G rs200305333 AFP Synonymous SNV P133P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.104 224775 chr6 80515658 80515658 C - LINC01621 0 0 0.003 0 0 0 0 1 0 0 0 0 224776 chr4 75938178 75938178 C T rs137870410 PARM1 Nonsynonymous SNV P196L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 224777 chr17 3917644 3917644 G A ZZEF1 Nonsynonymous SNV P2771S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 224778 chr17 3917645 3917645 A G ZZEF1 Synonymous SNV L2770L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.834 224779 chr5 149578820 149578820 A C rs143063045 SLC6A7 Nonsynonymous SNV Q205P 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 6.172 224780 chr4 187026468 187026468 C T rs1022232568 FAM149A Nonsynonymous SNV R80W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 224781 chr6 88853769 88853769 G A rs149335541 CNR1 Nonsynonymous SNV R409W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 224782 chr4 80977164 80977164 G T ANTXR2 Synonymous SNV G100G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.234 224783 chr6 97000486 97000486 C G rs199880163 UFL1 Nonsynonymous SNV P705R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.3 224784 chr7 100075528 100075528 T C rs777368263 TSC22D4 Nonsynonymous SNV N45S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.188 224785 chr11 43940595 43940595 A G rs149613620 ALKBH3 Nonsynonymous SNV N226S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.56 224786 chr5 159437603 159437603 C T rs540178162 TTC1 Nonsynonymous SNV T23I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.25 224787 chr5 160067495 160067495 T G rs776335695 ATP10B Nonsynonymous SNV I297L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.08 224788 chr11 45949856 45949856 G A rs761835601 LARGE2 Nonsynonymous SNV R628H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 224789 chr11 46398102 46398102 C T rs752628061 DGKZ Synonymous SNV I707I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 224790 chr7 128845058 128845058 C T rs373395370 SMO Synonymous SNV N184N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.01 224791 chr4 103236925 103236925 G A rs530446964 SLC39A8 Synonymous SNV S27S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 224792 chr7 129663527 129663527 G A rs567287067 ZC3HC1 Nonsynonymous SNV R310W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 224793 chr7 944715 944715 C T rs78775288 ADAP1 Synonymous SNV K66K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.38 224794 chr5 16711234 16711234 T C MYO10 Nonsynonymous SNV K684E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 224795 chr7 133859357 133859357 G A rs759410232 LRGUK Nonsynonymous SNV R330Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 224796 chr17 7916486 7916486 G A rs146820642 GUCY2D Nonsynonymous SNV G727S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.9 224797 chr7 134851540 134851540 C A rs146289482 CYREN Synonymous SNV S86S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 14.71 224798 chr17 4446217 4446217 C T rs138864176 MYBBP1A Synonymous SNV T961T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.04 224799 chr5 176317824 176317824 C G rs201738990 HK3 Nonsynonymous SNV R178T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.77 224800 chr17 46196466 46196466 C T rs760278619 SNX11 Stop gain R145X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 224801 chr5 179007951 179007951 T G rs6879322 RUFY1 Nonsynonymous SNV H190Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 13.25 224802 chr5 179016621 179016621 T C rs56252946 RUFY1 Synonymous SNV I259I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 10.53 224803 chr5 179020562 179020562 C T rs73809484 RUFY1 Synonymous SNV H335H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.667 224804 chr5 179021869 179021869 T C rs75505498 RUFY1 Synonymous SNV N364N 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 10.81 224805 chr5 179105676 179105676 C T rs201900739 CBY3 Nonsynonymous SNV A213T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.47 224806 chr7 141918189 141918189 A C rs538895718 MGAM2 Nonsynonymous SNV N1739T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 224807 chr4 126402849 126402849 G A rs369024765 FAT4 Nonsynonymous SNV V4260I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.68 224808 chr4 129208616 129208616 C T PGRMC2 Synonymous SNV Q110Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.43 224809 chr7 102046237 102046237 G T rs117420576 MIR548O 0 0 0.01 0 0 0 0 3 0 0 0 0 3.183 224810 chr7 1022968 1022968 G A rs372411076 CYP2W1 Nonsynonymous SNV V41I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 224811 chr7 1024119 1024119 C T rs73259906 CYP2W1 Synonymous SNV F82F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 9.206 224812 chr7 1024871 1024871 G A rs61746347 CYP2W1 Nonsynonymous SNV R186H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.67 224813 chr7 1026385 1026385 G A rs61733260 CYP2W1 Synonymous SNV P257P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 9.208 224814 chr6 397194 397194 A G IRF4 Synonymous SNV Q192Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.572 224815 chr6 656746 656746 G A HUS1B Nonsynonymous SNV R67C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.41 224816 chr4 142053552 142053552 C A rs376888893 RNF150 Synonymous SNV L137L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 224817 chr8 117870622 117870622 C T rs188711205 RAD21 Synonymous SNV G150G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 15.97 224818 chr4 144532466 144532466 G A rs535317699 FREM3 Synonymous SNV T1998T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.183 224819 chr17 9705923 9705923 G A GSG1L2 Nonsynonymous SNV S221L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 224820 chr8 124221729 124221729 C T rs142100561 FAM83A Nonsynonymous SNV A366V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 3.443 224821 chr5 61811307 61811307 A G rs375270357 IPO11 Synonymous SNV T665T 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 13.73 224822 chr7 117375057 117375057 C T CTTNBP2 Synonymous SNV Q1244Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 224823 chr7 123302011 123302011 A T rs200398787 LMOD2 Nonsynonymous SNV E124V 0.002 0 0.014 0 2 0 0 4 0 0 0 0 19.66 224824 chr7 150706059 150706059 C T NOS3 Synonymous SNV A718A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.91 224825 chr6 12123915 12123915 C T rs748063550 HIVEP1 Nonsynonymous SNV S1296L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 224826 chr6 16327900 16327900 C A rs200111316 ATXN1 Nonsynonymous SNV Q214H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.56 224827 chr17 55075824 55075824 A T rs749827070 SCPEP1 Nonsynonymous SNV K320M 0.003 0 0 0 3 0 0 0 0 0 0 0 32 224828 chr6 17120881 17120881 G T STMND1 Nonsynonymous SNV E101D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.767 224829 chr6 17120882 17120882 A T STMND1 Nonsynonymous SNV S102C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.54 224830 chr5 73142245 73142245 A G ARHGEF28 Nonsynonymous SNV D214G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 224831 chr7 128766463 128766463 G T rs10464695 LOC407835 0 0 0.007 0 0 0 0 2 0 0 0 0 0.541 224832 chr8 143604009 143604009 T C ADGRB1 Synonymous SNV P1061P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.621 224833 chr4 183721309 183721309 C G rs748848351 TENM3 Synonymous SNV R2635R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.24 224834 chr5 79025382 79025382 C A rs780823706 CMYA5 Nonsynonymous SNV A265E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 224835 chr7 136700662 136700662 A G rs60372903 CHRM2 Synonymous SNV S350S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.469 224836 chr7 138417642 138417642 C T rs73730479 ATP6V0A4 Nonsynonymous SNV A630T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.41 224837 chr7 138819445 138819445 C T rs35197265 TTC26 Synonymous SNV H16H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.29 224838 chr7 138946296 138946296 A G rs75136253 UBN2 Nonsynonymous SNV M402V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.595 224839 chr5 79855726 79855726 T C rs528734024 ANKRD34B Nonsynonymous SNV E38G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 224840 chr7 139719829 139719829 C T rs13306050 TBXAS1 Nonsynonymous SNV P450L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 224841 chr7 141537690 141537690 A C rs980191733 PRSS37 Nonsynonymous SNV S134A 0 0 0.007 0 0 0 0 2 0 0 0 0 15.11 224842 chr5 90024530 90024530 C T ADGRV1 Synonymous SNV L3402L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 224843 chr8 144940799 144940799 - GCA rs781830414 EPPK1 T2207_Q2208insL 0.001 0 0 2 1 0 0.005 0 0 0 0 0 224844 chr5 1057720 1057720 C T rs769153323 SLC12A7 Synonymous SNV A964A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 224845 chr7 149480305 149480305 C T rs762615880 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 224846 chr7 149561271 149561271 G T rs759666513 ZNF862 Synonymous SNV L1136L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.168 224847 chr8 145110001 145110001 C T rs554252043 OPLAH Synonymous SNV G780G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.69 224848 chr8 145111953 145111953 C T OPLAH Nonsynonymous SNV C535Y 0 0 0 2 0 0 0.005 0 0 0 0 0 9.043 224849 chr5 7706896 7706896 C T rs189747945 ADCY2 Synonymous SNV R383R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 224850 chr8 18079653 18079653 C T rs56318881 NAT1 Stop gain R33X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 224851 chr7 151805332 151805332 T C rs202114668 GALNT11 Nonsynonymous SNV S227P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.9 224852 chr8 20112605 20112605 G T rs145365423 LZTS1 Nonsynonymous SNV H30N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.98 224853 chr5 14488194 14488205 GGAGCTCCATCC - rs140308852 TRIO W2486_P2490delinsS 0.001 0 0.003 0 1 0 0 1 0 0 0 0 224854 chr17 7287466 7287466 G T rs373016915 TNK1 Nonsynonymous SNV A254S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 224855 chr7 16734631 16734631 T C BZW2 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 224856 chr5 121759040 121759040 A G rs144384727 SNCAIP Nonsynonymous SNV N203S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.001 224857 chr7 19738242 19738242 A G rs187171103 TWISTNB Synonymous SNV Y238Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.539 224858 chr7 19761734 19761734 A G rs143842127 TMEM196 Synonymous SNV N167N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.853 224859 chr6 49489475 49489475 C - rs778691238 GLYATL3 S145Vfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 224860 chr5 129240803 129240803 G A rs765146529 CHSY3 Nonsynonymous SNV G94E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 224861 chr17 73567097 73567097 C T rs74876688 LLGL2 Nonsynonymous SNV R698C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224862 chr5 37183766 37183766 T C rs141911199 CPLANE1 Nonsynonymous SNV H1506R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 224863 chr6 51947977 51947977 A G rs201195801 PKHD1 Synonymous SNV D43D 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Uncertain significance 12.36 224864 chr7 2583593 2583593 G A rs140833277 BRAT1 Nonsynonymous SNV A145V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 7.36 224865 chr6 65300574 65300574 T G EYS Nonsynonymous SNV K1729T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.77 224866 chr11 59834559 59834559 T A rs201987673 MS4A3 Nonsynonymous SNV C40S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 224867 chr5 138764299 138764299 C T rs149143931 DNAJC18 Nonsynonymous SNV A101T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 224868 chr8 39644542 39644542 G C rs146775573 ADAM2 Nonsynonymous SNV T262S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 224869 chr11 60540901 60540901 A G rs754103339 MS4A15 Nonsynonymous SNV M107V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 224870 chr6 83838907 83838907 T C DOP1A Nonsynonymous SNV M665T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 224871 chr5 140562292 140562292 G C rs145552926 PCDHB16 Nonsynonymous SNV G53A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 224872 chr6 86195019 86195019 G A rs760238242 NT5E Nonsynonymous SNV R273Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 224873 chr7 43992366 43992366 G A POLR2J4 0 0 0.003 0 0 0 0 1 0 0 0 0 7.168 224874 chr6 89638945 89638945 C T rs149938605 RNGTT Synonymous SNV R12R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 224875 chr6 90461171 90461171 A G rs145864488 MDN1 Nonsynonymous SNV I1069T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 224876 chr5 74807208 74807208 C G CERT1 Nonsynonymous SNV C70S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 224877 chr17 78210873 78210873 G A rs143498900 SLC26A11 Nonsynonymous SNV G295R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.105 224878 chr19 12984234 12984234 C T MAST1 Synonymous SNV S1120S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 224879 chr17 78247164 78247164 C T rs60826056 RNF213 Synonymous SNV P74P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 9.987 224880 chr8 95444581 95444581 C A FSBP Nonsynonymous SNV R226S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 224881 chr19 13923905 13923905 C T rs138572880 ZSWIM4 Synonymous SNV D369D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.5 224882 chr13 115004941 115004941 C T CDC16 Synonymous SNV S25S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 224883 chr6 111688453 111688453 G C rs747100815 REV3L Nonsynonymous SNV L2180V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.972 224884 chr17 79226994 79226994 C T rs768504860 SLC38A10 Synonymous SNV P445P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.62 224885 chr17 7950577 7950577 T A rs531096224 ALOX15B Nonsynonymous SNV F458I 0.002 0 0 0 2 0 0 0 0 0 0 0 31 224886 chr7 590211 590211 G T rs375046566 PRKAR1B Synonymous SNV P334P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.611 224887 chr6 112575162 112575162 G A rs376091454 LAMA4 Nonsynonymous SNV A64V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 6.878 224888 chr6 112575165 112575165 G A rs370868386 LAMA4 Nonsynonymous SNV A63V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.26 224889 chr5 150891768 150891768 T G rs57774012 FAT2 Nonsynonymous SNV T3955P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.553 224890 chr5 150891806 150891806 G C rs60050170 FAT2 Nonsynonymous SNV T3942S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.747 224891 chr17 8021170 8021170 G T rs761332140 ALOXE3 Nonsynonymous SNV P47T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.071 224892 chr7 75894760 75894760 C T rs376317472 SRRM3 Synonymous SNV H268H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.468 224893 chr7 81392095 81392095 G T rs142659098 HGF Nonsynonymous SNV T61N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 224894 chr7 86826042 86826042 C T rs763131561 TMEM243 Synonymous SNV P89P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.729 224895 chr7 888057 888057 G A rs778055248 SUN1 Nonsynonymous SNV G171S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.27 224896 chr13 42460061 42460061 T C rs779815752 VWA8 Nonsynonymous SNV I324V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 224897 chr8 140743340 140743340 G T rs373979305 TRAPPC9 Synonymous SNV P1128P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.407 224898 chr11 66455718 66455718 G T rs144563313 SPTBN2 Nonsynonymous SNV P2099H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.6 224899 chr6 144780322 144780322 A C rs148685925 UTRN Nonsynonymous SNV N847H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.001 224900 chr19 17937659 17937659 C T rs144968714 JAK3 Nonsynonymous SNV A1090T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.144 224901 chr5 171509424 171509424 G A rs767684376 STK10 Nonsynonymous SNV A632V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 224902 chr7 99703582 99703582 G A rs141754568 AP4M1 Synonymous SNV R317R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.43 224903 chr19 18391741 18391741 G A JUND Nonsynonymous SNV A142V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.869 224904 chr18 25543390 25543390 G A rs761127424 CDH2 Synonymous SNV H784H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.26 224905 chr6 152453273 152453273 G T rs147829200 SYNE1 Nonsynonymous SNV P871Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 224906 chr18 29104504 29104504 A G DSG2 Nonsynonymous SNV I262V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 224907 chr5 176931221 176931221 G A rs779739759 DOK3 Synonymous SNV H362H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.894 224908 chr8 144940706 144940706 C T rs112377501 EPPK1 Nonsynonymous SNV R2239H 0 0.003 0.01 2 0 1 0.005 3 0 0 0 0 27.6 224909 chr5 133945320 133945320 C A SAR1B Nonsynonymous SNV V97L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 224910 chr5 134011772 134011772 A G rs747471438 SEC24A Nonsynonymous SNV K404R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 224911 chr18 3155047 3155047 A G MYOM1 Nonsynonymous SNV L514S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 224912 chr8 145004561 145004561 C A PLEC Nonsynonymous SNV K802N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 224913 chr18 3452069 3452069 C T rs199861107 TGIF1 Nonsynonymous SNV P31L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.035 224914 chr5 139508194 139508194 C T rs201733032 IGIP Nonsynonymous SNV R45W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 224915 chr18 43842966 43842966 G A rs758783585 C18orf25 Nonsynonymous SNV S305N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.04 224916 chr8 124346476 124346476 G A ATAD2 Nonsynonymous SNV L1100F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 224917 chr5 140718582 140718582 T C rs748669005 PCDHGA2 Nonsynonymous SNV L15P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 224918 chr8 125575041 125575041 C A rs138654761 MTSS1 Synonymous SNV P339P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.45 224919 chr8 130764109 130764109 T A GSDMC Synonymous SNV V305V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.737 224920 chr8 132051958 132051958 T C rs76847181 ADCY8 Nonsynonymous SNV M208V 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 5.393 224921 chr6 8417198 8417198 G T rs143437815 SLC35B3 Nonsynonymous SNV L239I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 224922 chr9 5968069 5968069 T A rs762652161 KIAA2026 Nonsynonymous SNV N721I 0 0.003 0 0 0 1 0 0 0 0 0 0 24 224923 chr9 6477717 6477717 A G rs749979045 UHRF2 Nonsynonymous SNV N357D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.26 224924 chr5 141336023 141336023 T C PCDH12 Nonsynonymous SNV Y465C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 224925 chr11 85397128 85397128 T C rs201712185 CCDC89 Nonsynonymous SNV T16A 0 0 0 4 0 0 0.01 0 0 0 0 0 8.518 224926 chr7 1024914 1024914 T C CYP2W1 Synonymous SNV G200G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.742 224927 chr11 86103767 86103767 G A rs17210546 CCDC81 Synonymous SNV V161V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.38 224928 chr5 148699197 148699197 T C rs140803806 AFAP1L1 Nonsynonymous SNV M478T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.666 224929 chr5 148725169 148725169 T C rs144014362 GRPEL2 Nonsynonymous SNV W23R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.906 224930 chr5 149240492 149240492 C A rs138315990 PDE6A Nonsynonymous SNV G850V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 224931 chr11 92533095 92533095 G C FAT3 Nonsynonymous SNV V2306L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 224932 chr18 7012034 7012034 G A rs771338059 LAMA1 Nonsynonymous SNV S1156F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 224933 chr8 144377982 144377982 C T rs754945982 ZNF696 Nonsynonymous SNV T46M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 224934 chr5 149499123 149499123 G A rs200865355 PDGFRB Nonsynonymous SNV T838I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 224935 chr7 4821336 4821336 C T rs566001734 AP5Z1 Nonsynonymous SNV T106M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.332 224936 chr19 38796087 38796087 C T rs767103730 YIF1B Nonsynonymous SNV G269R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 224937 chr6 27925916 27925916 G A rs150649355 OR2B6 Nonsynonymous SNV G300S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 224938 chr6 28213606 28213606 C T rs62638677 ZKSCAN4 Nonsynonymous SNV R154K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 224939 chr19 38966066 38966066 C G rs2229141 RYR1 Synonymous SNV P1423P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.204 224940 chr7 5662506 5662506 C T rs146694552 RNF216 Synonymous SNV P919P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.93 224941 chr18 76756901 76756901 G T SALL3 Nonsynonymous SNV G1161V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 224942 chr19 39589629 39589629 A G ACP7 Nonsynonymous SNV S118G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 224943 chr7 7571420 7571420 T C rs17168526 COL28A1 Synonymous SNV Q80Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.003 224944 chr8 144944622 144944622 C T rs576637287 EPPK1 Nonsynonymous SNV G934S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 224945 chr8 144990644 144990644 C T rs781912450 PLEC Nonsynonymous SNV A4435T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 224946 chr9 132591542 132591544 TTT - rs764968548 C9orf78 K240del 0.004 0 0 2 5 0 0.005 0 0 0 0 0 224947 chr18 9563529 9563529 G A rs377310979 PPP4R1 Synonymous SNV S531S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 224948 chr9 78943065 78943065 G A rs781520178 PCSK5 Nonsynonymous SNV G1467R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.561 224949 chr12 25357221 25357221 - T rs774260398 ETFRF1 Frameshift insertion S84Ffs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 224950 chr7 20199314 20199314 A T MACC1 Nonsynonymous SNV S224T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.9 224951 chr8 146228398 146228398 C G rs767206585 ZNF252P-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.817 224952 chr5 172661963 172661963 C G rs113818864 NKX2-5 Nonsynonymous SNV A42P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.8 224953 chr12 109962288 109962288 G A rs770314364 UBE3B Nonsynonymous SNV D850N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 224954 chr9 97873533 97873533 G A rs41281200 FANCC Nonsynonymous SNV T475M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.017 224955 chr8 17612306 17612306 C G rs767003843 MTUS1 Synonymous SNV L337L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.652 224956 chr7 30487954 30487954 T C NOD1 Nonsynonymous SNV S749G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 224957 chr9 100616481 100616481 A G rs139551528 FOXE1 Synonymous SNV K95K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.297 224958 chr12 48240233 48240233 G A rs12721365 VDR Synonymous SNV A303A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.473 224959 chr19 11537005 11537005 C T rs201899388 CCDC151 Nonsynonymous SNV A248T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 224960 chr19 11917736 11917736 G C rs776747059 ZNF491 Nonsynonymous SNV G323A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 224961 chr9 107289293 107289293 G C rs746406154 OR13C4 Synonymous SNV L66L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.427 224962 chr12 50480102 50480102 G T rs139120093 SMARCD1 Nonsynonymous SNV Q112H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.53 224963 chr9 107332401 107332401 A G rs780585486 OR13C8 Nonsynonymous SNV D318G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.779 224964 chr12 117175756 117175756 C A rs538829163 C12orf49 Nonsynonymous SNV R6L 0 0 0 2 0 0 0.005 0 0 0 0 0 20.2 224965 chr6 44217492 44217492 G A HSP90AB1 Synonymous SNV V145V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.97 224966 chr7 38803086 38803086 A G rs148532572 VPS41 Nonsynonymous SNV I439T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 224967 chr8 23560029 23560029 C G rs750925637 NKX2-6 Nonsynonymous SNV G281R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 224968 chr9 112145817 112145817 C T rs146869100 PTPN3 Synonymous SNV Q424Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.81 224969 chr8 26906402 26906402 C T rs73235381 MIR548H4 0 0 0.003 0 0 0 0 1 0 0 0 0 5.287 224970 chr7 45125347 45125347 A G rs530899042 NACAD Synonymous SNV G144G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.299 224971 chr5 180631650 180631650 C T rs781642744 TRIM7 Nonsynonymous SNV R154H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 224972 chr7 47408208 47408208 C T rs7808646 TNS3 Nonsynonymous SNV G679S 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign 0.04 224973 chr7 47408252 47408252 G A rs114488371 TNS3 Nonsynonymous SNV A664V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 8.483 224974 chr6 49819725 49819725 T C rs151127841 CRISP1 Nonsynonymous SNV M62V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 224975 chr19 15571908 15571908 G A rs372259496 RASAL3 Nonsynonymous SNV P190L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 224976 chr6 51799076 51799076 C T PKHD1 Nonsynonymous SNV A1985T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 224977 chr12 123103040 123103040 T C KNTC1 Synonymous SNV L2033L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.075 224978 chr6 2948892 2948892 C T rs372953043 SERPINB6 Synonymous SNV T271T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.19 224979 chr7 48287857 48287857 A G rs545737708 ABCA13 Nonsynonymous SNV I561V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.188 224980 chr6 54002610 54002610 G A rs557689140 MLIP Synonymous SNV T570T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.018 224981 chr7 49815431 49815431 G A rs184950432 VWC2 Nonsynonymous SNV E134K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 18.74 224982 chr8 37756930 37756930 G T RAB11FIP1 Synonymous SNV G10G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.315 224983 chr12 124859005 124859005 T C rs369809475 NCOR2 Synonymous SNV L724L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.073 224984 chr8 39521368 39521368 G C rs201475153 ADAM18 Nonsynonymous SNV V405L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 224985 chr7 64167037 64167037 C T rs371689773 ZNF107 Synonymous SNV L156L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.58 224986 chr6 69944959 69944959 A G rs146727338 ADGRB3 Synonymous SNV L881L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.64 224987 chr6 71569945 71569945 C A rs200085417 SMAP1 Nonsynonymous SNV P411T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.405 224988 chr8 55538781 55538781 G T rs762382791 RP1 Nonsynonymous SNV R780I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 224989 chr8 618647 618647 T G rs1703879 ERICH1 Nonsynonymous SNV R403S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 6.558 224990 chr19 17835996 17835996 G A MAP1S Nonsynonymous SNV E122K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 224991 chr8 623644 623644 G A rs35806240 ERICH1 Synonymous SNV D236D 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.751 224992 chr8 623748 623748 C T rs34493075 ERICH1 Nonsynonymous SNV V202M 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.11 224993 chr9 125330528 125330528 T C OR1L8 Nonsynonymous SNV S77G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 224994 chr6 76063351 76063351 C A rs757436412 FILIP1 Nonsynonymous SNV R178L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 224995 chr6 80198858 80198858 A T rs754346404 LCA5 Nonsynonymous SNV F392I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.685 224996 chr6 24873157 24873157 C A rs375464333 RIPOR2 Synonymous SNV L125L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.46 224997 chr19 18266929 18266929 C T rs370853734 PIK3R2 Synonymous SNV P80P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 224998 chr6 26108062 26108062 G A rs145388155 H1-6 Nonsynonymous SNV S87F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 224999 chr8 74791286 74791286 G C rs3808620 LINC01617 0 0 0.003 0 0 0 0 1 0 0 0 0 5.724 225000 chr12 57351208 57351208 G A RDH16 Synonymous SNV Y13Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.078 225001 chr19 49206521 49206521 T C rs771555785 FUT2 Nonsynonymous SNV L103P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 225002 chr19 19230980 19230980 C T rs200543150 TMEM161A Stop gain W297X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 225003 chr6 90572435 90572435 A C rs750788879 CASP8AP2 Nonsynonymous SNV D336A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 225004 chr7 91630435 91630435 G A rs146022334 AKAP9 Nonsynonymous SNV E402K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 29.7 225005 chr7 91708618 91708618 G C AKAP9 Nonsynonymous SNV V2391L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 225006 chr6 105776785 105776785 C T rs147546055 PREP Nonsynonymous SNV D378N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 225007 chr6 33648447 33648447 C A rs761798898 ITPR3 Nonsynonymous SNV T1489N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 225008 chr7 95041707 95041707 G C PON2 Nonsynonymous SNV P95R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.763 225009 chr9 131584881 131584884 AGTA - rs864309587 ENDOG K297Efs*6 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 225010 chr7 99128985 99128985 G A ZKSCAN5 Nonsynonymous SNV G472R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 225011 chr7 99526462 99526462 C T GJC3 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 225012 chr9 131885414 131885414 C T rs147044679 PTPA Synonymous SNV S36S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 17.88 225013 chr7 99798904 99798904 G A rs907848936 STAG3 Nonsynonymous SNV R659H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.1 225014 chr8 99539045 99539045 C A rs369763923 STK3 Nonsynonymous SNV M303I 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 19.08 225015 chr6 109761744 109761744 G T rs766000276 PPIL6 Nonsynonymous SNV P17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.073 225016 chr9 133491852 133491852 C G rs756648598 FUBP3 Nonsynonymous SNV S172C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28 225017 chr7 100457519 100457519 G C SLC12A9 Nonsynonymous SNV Q187H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.22 225018 chr19 2852576 2852576 A G rs763689197 ZNF555 Synonymous SNV P170P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 225019 chr6 36075326 36075326 C T rs28763973 MAPK14 Nonsynonymous SNV T286M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.04 225020 chr6 36891200 36891200 G A rs373601420 C6orf89 Nonsynonymous SNV A350T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.303 225021 chr6 39328259 39328259 T C rs142999075 KIF6 Nonsynonymous SNV E116G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 225022 chr12 93772199 93772199 - GCTGC NUDT4, NUDT4B 0.001 0 0 1 1 0 0.003 0 0 0 0 0 225023 chr6 137167301 137167301 T G rs373624730 PEX7 Nonsynonymous SNV C170G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 225024 chr9 136578196 136578196 G A rs61737867 SARDH Stop gain R401X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 225025 chr6 138196151 138196151 G A rs140424499 TNFAIP3 Synonymous SNV T155T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 16.07 225026 chr6 138640893 138640893 G A rs201467073 ARFGEF3 Nonsynonymous SNV V1510I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 225027 chr6 151152878 151152878 C T rs780020110 PLEKHG1 Synonymous SNV T838T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.094 225028 chr6 153315744 153315744 T A rs57819885 MTRF1L Synonymous SNV G197G 0.007 0.003 0 3 8 1 0.008 0 0 0 0 0 10.87 225029 chr6 51890699 51890699 G A PKHD1 Synonymous SNV V1303V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.825 225030 chr9 126202767 126202767 T A rs368539387 DENND1A Nonsynonymous SNV I422F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.96 225031 chr7 100839343 100839343 T G MOGAT3 Nonsynonymous SNV H236P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 225032 chr19 39340540 39340540 C T rs749109323 HNRNPL Nonsynonymous SNV D23N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 225033 chr10 1170916 1170916 T C WDR37 Synonymous SNV F435F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.491 225034 chr6 57512788 57512788 T A rs79832250 PRIM2 0.002 0 0 0 2 0 0 0 0 0 0 0 5.285 225035 chr7 102950891 102950891 G A rs117074402 PMPCB Nonsynonymous SNV A375T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 225036 chr10 5248270 5248270 - A rs782615208 AKR1C4 Frameshift insertion S162Vfs*64 0 0.003 0 0 0 1 0 0 0 0 0 0 225037 chr7 107114947 107114947 G A GPR22 Nonsynonymous SNV A148T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 225038 chr6 88187196 88187196 A G rs145006535 SLC35A1 Nonsynonymous SNV T45A 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 225039 chr7 129394895 129394895 G A rs202039810 NRF1 Synonymous SNV V301V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.54 225040 chr19 42729311 42729311 G A rs569291252 ZNF526 Synonymous SNV E252E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.059 225041 chr9 135787732 135787732 G A rs140544652 TSC1 Nonsynonymous SNV R233C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.8 225042 chr6 100841372 100841372 T C SIM1 Nonsynonymous SNV R521G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 225043 chr7 134644784 134644784 A C rs767071529 CALD1 Nonsynonymous SNV E446D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.261 225044 chr7 4824597 4824597 C T rs572271008 AP5Z1 Synonymous SNV A127A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 225045 chr7 138356781 138356781 C - SVOPL V86Wfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 225046 chr19 57723825 57723825 C T ZNF264 Nonsynonymous SNV P454S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 225047 chr7 139715575 139715575 G A rs2286199 TBXAS1 Nonsynonymous SNV A366T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23.8 225048 chr6 109993218 109993224 ACTAAGG - AK9 L79Cfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 225049 chr7 5434174 5434174 C G rs375463284 TNRC18 Synonymous SNV S80S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 225050 chr10 34606139 34606139 T C rs751226132 PARD3 Synonymous SNV R915R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.715 225051 chr10 34636933 34636933 A C PARD3 Nonsynonymous SNV D669E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.49 225052 chr19 45021162 45021162 T C rs761016856 CEACAM20 Nonsynonymous SNV Y385C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.799 225053 chr7 16649260 16649260 C T rs371637288 ANKMY2 Nonsynonymous SNV E293K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 225054 chr9 140115339 140115339 C T rs200615267 RNF208 Nonsynonymous SNV R109H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 225055 chr9 140128982 140128982 T G rs532292902 SLC34A3 Nonsynonymous SNV M403R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 225056 chr9 140150393 140150393 C T rs781536430 NELFB Nonsynonymous SNV S94L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 225057 chr19 45368577 45368577 C T NECTIN2 Synonymous SNV L46L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.41 225058 chr7 23339158 23339158 A G rs200513830 MALSU1 Nonsynonymous SNV S63G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 225059 chr19 58988602 58988602 G A rs765197845 ZNF446 Nonsynonymous SNV G6D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 225060 chr7 149500050 149500050 C T rs770826552 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 17.36 225061 chr6 133097508 133097508 T G rs763314074 SLC18B1 Nonsynonymous SNV I286L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 225062 chr7 149547315 149547315 C T rs571816671 ZNF862 Synonymous SNV F335F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.87 225063 chr7 30795146 30795146 C T rs6966180 INMT Synonymous SNV A156A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.36 225064 chr19 4704192 4704192 G C rs200878232 DPP9 Nonsynonymous SNV A184G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.2 225065 chr7 30795412 30795412 A G rs6970210 INMT Nonsynonymous SNV N245S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 225066 chr19 47769901 47769901 A G CCDC9 Nonsynonymous SNV M252V 0.002 0 0 0 2 0 0 0 0 0 0 0 25 225067 chr7 31011625 31011625 C G rs10227922 GHRHR Nonsynonymous SNV T171S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.7 225068 chr6 148841469 148841469 C T rs558762515 SASH1 Nonsynonymous SNV T311M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 225069 chr19 47920215 47920215 G A rs199683999 MEIS3 Nonsynonymous SNV P64L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 33 225070 chr7 32209426 32209426 G A rs60578446 PDE1C Synonymous SNV S93S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.525 225071 chr10 63851877 63851877 G A rs368683439 ARID5B Synonymous SNV T642T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.64 225072 chr7 154767677 154767677 G A rs61752015 PAXIP1 Nonsynonymous SNV P268L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.4 225073 chr10 113932075 113932075 G A rs139006005 GPAM Nonsynonymous SNV T220M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.07 225074 chr9 35547589 35547589 T G rs141631057 RUSC2 Synonymous SNV P357P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.373 225075 chr6 151779540 151779540 T A rs200297357 ARMT1 Nonsynonymous SNV F75L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.125 225076 chr19 804694 804694 C T PTBP1 Synonymous SNV L200L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.617 225077 chr10 115341879 115341879 C T rs111801289 HABP2 Synonymous SNV A335A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.05 225078 chr10 69651168 69651168 T C SIRT1 Synonymous SNV V266V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.536 225079 chr19 48744321 48744321 C G CARD8 0.002 0 0 0 2 0 0 0 0 0 0 0 3.33 225080 chr9 36671077 36671077 C T rs762292893 MELK Nonsynonymous SNV L399F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 225081 chr10 71266641 71266641 G A rs774678872 TSPAN15 Nonsynonymous SNV M177I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.776 225082 chr8 1950161 1950161 G A rs767953618 KBTBD11 Nonsynonymous SNV R268H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 225083 chr10 117228763 117228763 A G rs371534050 ATRNL1 Nonsynonymous SNV K1193R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 225084 chr19 8841758 8841758 A G rs782244643 OR2Z1 Nonsynonymous SNV Y123C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 225085 chr13 102220057 102220057 T C rs759843028 ITGBL1 Synonymous SNV G15G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.898 225086 chr9 74561983 74561983 G A rs142178034 C9orf85 Nonsynonymous SNV R55H 0 0 0.007 0 0 0 0 2 0 0 0 0 25 225087 chr10 73377094 73377094 C T rs185917383 CDH23 Synonymous SNV L360L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.68 225088 chr8 8749161 8749161 C A MFHAS1 Nonsynonymous SNV G470C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 225089 chr10 74098037 74098037 A G rs138477026 DNAJB12 Synonymous SNV P252P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 2.2 225090 chr13 108882331 108882331 G A ABHD13 Synonymous SNV Q255Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 225091 chr6 163149321 163149321 G A PACRG Synonymous SNV P18P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 225092 chr13 107823044 107823044 A G rs145827476 FAM155A Nonsynonymous SNV V393A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 225093 chr7 50513225 50513225 G C rs140862457 FIGNL1 Nonsynonymous SNV C587W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 225094 chr10 86273824 86273824 - C rs763470522 CCSER2 Frameshift insertion S412Lfs*52 0.001 0.003 0 0 1 1 0 0 0 0 0 0 225095 chr10 127505038 127505038 C G UROS Nonsynonymous SNV E11Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 225096 chr8 16884989 16884989 G A rs553383981 MICU3 Synonymous SNV L67L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 225097 chr8 17541952 17541952 T C rs192325056 MTUS1 Nonsynonymous SNV Y74C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.05 225098 chrX 106840608 106840608 G A rs371411843 FRMPD3 Nonsynonymous SNV S533N 0 0 0.007 0 0 0 0 2 0 0 1 0 12.23 225099 chr7 76019627 76019627 G A rs755575890 SSC4D Nonsynonymous SNV R493W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 225100 chr19 9968427 9968427 C T OLFM2 Synonymous SNV R30R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 225101 chr10 98715158 98715158 A G rs139623504 LCOR Nonsynonymous SNV M261V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.74 225102 chr1 104080076 104080076 A G rs763817950 RNPC3 Nonsynonymous SNV Y246C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 225103 chr8 24771884 24771884 C A rs200725476 NEFM Nonsynonymous SNV A193E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 225104 chr7 6692151 6692151 C T rs542820737 ZNF316 Synonymous SNV A308A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.171 225105 chr8 25253109 25253109 C T rs138008023 DOCK5 Synonymous SNV N1526N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.18 225106 chr19 54313743 54313743 G A rs146245368 NLRP12 Synonymous SNV Y390Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 1.04 225107 chr10 103587976 103587976 C G rs151131105 KCNIP2 Nonsynonymous SNV V134L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.13 225108 chrX 18194105 18194105 C A rs145927832 BEND2 Nonsynonymous SNV G489V 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 9.013 225109 chrX 18221934 18221934 C A rs148002154 BEND2 Nonsynonymous SNV Q198H 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 17.01 225110 chr7 99764692 99764692 C A rs780231928 GAL3ST4 Synonymous SNV T9T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 225111 chr8 52320786 52320786 G A rs74731075 PXDNL Nonsynonymous SNV A1133V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 0.525 225112 chr8 52811615 52811615 C T rs10092061 PCMTD1 Synonymous SNV G19G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.788 225113 chr16 21663893 21663893 G A rs747337935 IGSF6 Synonymous SNV I9I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.703 225114 chrX 55748667 55748667 A G RRAGB Nonsynonymous SNV I21V 0 0 0.007 0 0 0 0 2 0 0 1 0 23 225115 chr7 30694422 30694422 G C rs73085814 CRHR2 Nonsynonymous SNV S366R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.116 225116 chr19 55865832 55865832 C T rs760682434 COX6B2 Nonsynonymous SNV D20N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 225117 chr10 115614688 115614688 C G NHLRC2 Synonymous SNV T19T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 225118 chrX 86887325 86887325 C T rs757049284 KLHL4 Synonymous SNV V480V 0 0 0.007 0 0 0 0 2 0 0 1 0 15.37 225119 chr10 101147696 101147696 C T rs141109637 CNNM1 Synonymous SNV G820G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 225120 chr7 42017241 42017241 G A rs35128755 GLI3 Synonymous SNV Y576Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.099 225121 chr10 103988952 103988954 CTT - rs781605072 ELOVL3 F254del 0 0 0.003 0 0 0 0 1 0 0 0 0 225122 chr19 5705841 5705841 C T rs139554429 LONP1 Nonsynonymous SNV V241I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 23.5 225123 chr10 126681869 126681869 G A CTBP2 Nonsynonymous SNV P382L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 225124 chr14 57052528 57052528 C T TMEM260 Nonsynonymous SNV A81V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.73 225125 chr10 106139972 106139972 G A rs111304310 CFAP58 Synonymous SNV T453T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.21 225126 chr14 58730446 58730446 C G PSMA3 Synonymous SNV G167G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.6 225127 chr10 112557335 112557335 A G RBM20 Nonsynonymous SNV N533D 0 0 0.003 0 0 0 0 1 0 0 0 0 29 225128 chr10 50669474 50669474 G A rs755725628 ERCC6 Nonsynonymous SNV R1303W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 225129 chr8 103851047 103851047 T G rs151270350 AZIN1 Nonsynonymous SNV K125T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 225130 chr19 57932060 57932060 A G rs201521062 ZNF17 Synonymous SNV T400T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.623 225131 chr10 115668204 115668204 T G NHLRC2 Nonsynonymous SNV M697R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 225132 chr10 131565209 131565209 G A rs200569730 MGMT Stop gain W191X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 225133 chr8 110457084 110457084 C T PKHD1L1 Synonymous SNV D1662D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.164 225134 chr10 116042305 116042305 C T VWA2 Synonymous SNV A288A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.575 225135 chr7 107302100 107302100 G A SLC26A4 Nonsynonymous SNV G5D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 225136 chr10 118423757 118423757 T A rs767574255 C10orf82 Nonsynonymous SNV T163S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.757 225137 chr10 61496840 61496840 A G rs145022139 MRLN Nonsynonymous SNV I40T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 225138 chr10 134599355 134599355 G A rs767206865 NKX6-2 Nonsynonymous SNV A33V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 225139 chr19 58926906 58926906 G A ZNF584 Nonsynonymous SNV R54K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.427 225140 chr10 134733584 134733584 C T rs750295891 CFAP46 Nonsynonymous SNV G570D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 225141 chr19 5893001 5893001 G C rs575960075 NDUFA11 Nonsynonymous SNV A205G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.002 225142 chr8 124382167 124382167 A T rs149531312 ATAD2 Nonsynonymous SNV D275E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.011 225143 chr7 121944207 121944207 C G rs151311760 FEZF1 Synonymous SNV P95P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.39 225144 chr19 6333485 6333485 G A rs995266233 ACER1 Synonymous SNV A26A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.709 225145 chr14 71197341 71197341 G C rs374489590 MAP3K9 Nonsynonymous SNV S757C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 225146 chr7 72985192 72985192 G A TBL2 Nonsynonymous SNV A165V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.32 225147 chr7 80293773 80293773 A G rs747606498 CD36 Nonsynonymous SNV I66V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 225148 chr19 7592423 7592423 C T rs145706318 MCOLN1 Nonsynonymous SNV P197S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24 225149 chr19 7677429 7677429 T A rs202045562 CAMSAP3 Nonsynonymous SNV F684I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 225150 chr19 7677430 7677430 T C rs200075510 CAMSAP3 Nonsynonymous SNV F684S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 225151 chr19 7755393 7755393 A C FCER2 Nonsynonymous SNV C173G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 225152 chr7 87005025 87005025 G A rs141391571 CROT Nonsynonymous SNV R245Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 225153 chr19 7998855 7998855 T A rs751202489 TIMM44 Nonsynonymous SNV S193C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 225154 chr8 143425506 143425506 C T rs144961640 TSNARE1 Nonsynonymous SNV R189Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 32 225155 chr10 74034604 74034604 G T rs144395972 DDIT4 Nonsynonymous SNV M119I 0 0 0 2 0 0 0.005 0 0 0 0 0 6.165 225156 chr10 77161053 77161053 C A rs756952833 ZNF503 Nonsynonymous SNV G42V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.42 225157 chr7 140159733 140159733 A C MKRN1 Stop gain Y106X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 225158 chr7 91732050 91732050 C T rs373321787 AKAP9 Nonsynonymous SNV P3747L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 225159 chr10 134671288 134671288 G A CFAP46 Nonsynonymous SNV R1794C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 225160 chr10 134916323 134916323 G A rs368145789 ADGRA1 Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.212 225161 chr19 8555989 8555989 C T rs372523277 PRAM1 Synonymous SNV A543A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 225162 chr10 135051448 135051448 C T rs745501368 VENTX Synonymous SNV G10G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.829 225163 chr7 98508825 98508825 G T rs782311635 TRRAP Synonymous SNV T646T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 225164 chr8 144801183 144801183 T C rs782378595 MAPK15 Synonymous SNV D146D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.407 225165 chr8 144942437 144942437 G A rs373351287 EPPK1 Nonsynonymous SNV S1662F 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 225166 chr8 144994161 144994161 C T rs201736785 PLEC Synonymous SNV T3262T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 6.037 225167 chr7 148984689 148984689 C G LOC155060 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.531 225168 chr10 22828999 22828999 C T rs755509877 PIP4K2A Synonymous SNV S288S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 225169 chr11 1019329 1019329 G A rs376580584 MUC6 Nonsynonymous SNV R1326W 0 0.003 0 0 0 1 0 0 0 0 0 0 15.16 225170 chr10 294326 294326 G A rs146838489 ZMYND11 Synonymous SNV T324T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.662 225171 chr7 100550356 100550356 - GT rs773095268 MUC3A Frameshift insertion P313Rfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 225172 chr7 100550358 100550358 C A rs74184446 MUC3A Synonymous SNV P313P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.55 225173 chr11 1856615 1856615 C T rs143638495 SYT8 Nonsynonymous SNV R77C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.54 225174 chr7 150864584 150864584 C T GBX1 Nonsynonymous SNV G18S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 225175 chr11 2191084 2191084 C T rs372002058 TH Synonymous SNV G36G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 225176 chr1 171086575 171086575 T G FMO3 Nonsynonymous SNV L468W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 225177 chr9 4286101 4286101 A G rs753973362 GLIS3 Nonsynonymous SNV S109P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.868 225178 chr9 6481714 6481714 A G rs781220093 UHRF2 Nonsynonymous SNV K411R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 225179 chr8 2836180 2836180 G C rs113793430 CSMD1 Synonymous SNV T2840T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 7.864 225180 chr9 7013946 7013946 G C rs36060681 KDM4C Nonsynonymous SNV E454D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.7 225181 chr1 102302478 102302478 G A rs773080795 OLFM3 Nonsynonymous SNV S78F 0.002 0 0 0 2 0 0 0 0 0 0 0 32 225182 chr1 103348829 103348829 C T COL11A1 Nonsynonymous SNV D1517N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 225183 chr10 50098628 50098628 C T rs371328718 WDFY4 Nonsynonymous SNV T2391M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 225184 chr10 50178250 50178250 T C rs41283305 WDFY4 Synonymous SNV I2948I 0.003 0 0.014 0 3 0 0 4 0 0 0 0 0.038 225185 chr1 108023395 108023395 C G NTNG1 Nonsynonymous SNV P417R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 225186 chr7 100680637 100680637 T C rs372965833 MUC17 Synonymous SNV Y1980Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 225187 chr10 5436175 5436175 C G rs199531744 TUBAL3 Nonsynonymous SNV V176L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 225188 chr14 73404707 73404707 G C rs151012011 DCAF4 Nonsynonymous SNV Q7H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 23 225189 chr1 110946552 110946552 T A rs200442714 LAMTOR5 Nonsynonymous SNV E150D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 225190 chr1 111060247 111060247 A G rs146859968 KCNA10 Nonsynonymous SNV L388P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 225191 chr14 74206611 74206611 G C rs146234347 ELMSAN1 Nonsynonymous SNV P34R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.04 225192 chr15 40093460 40093460 C T GPR176 Nonsynonymous SNV R429Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 225193 chr10 69881335 69881335 C T rs777446804 MYPN Nonsynonymous SNV P47L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.955 225194 chr1 183486889 183486889 G A rs372417959 SMG7 Synonymous SNV P40P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 225195 chr9 34996329 34996329 C T DNAJB5 Synonymous SNV D165D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.031 225196 chr10 708027 708027 G A rs781782215 PRR26 Nonsynonymous SNV E132K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.791 225197 chr7 122303411 122303411 A G rs377715881 CADPS2 Synonymous SNV N222N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.694 225198 chr7 123143038 123143038 C G IQUB Nonsynonymous SNV R276T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 225199 chr11 105924442 105924442 G A rs772026962 KBTBD3 Nonsynonymous SNV P246L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 225200 chr1 115166128 115166128 A G rs151243034 DENND2C Nonsynonymous SNV Y315H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 225201 chr1 115438114 115438114 A G rs748132461 SYCP1 Nonsynonymous SNV E435G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 225202 chr7 128494232 128494232 G A rs376035195 FLNC Nonsynonymous SNV R2197H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 225203 chr11 107799501 107799501 G C rs769667338 RAB39A Synonymous SNV T69T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.86 225204 chr8 21905706 21905706 C T rs147413881 FGF17 Synonymous SNV G188G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.41 225205 chr9 77407600 77407600 C T rs375316759 TRPM6 Synonymous SNV P821P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.31 225206 chr1 197390788 197390788 C T CRB1 Synonymous SNV N498N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 225207 chr10 74894526 74894526 A C rs35331959 ECD Nonsynonymous SNV S541A 0.003 0 0.007 0 4 0 0 2 0 0 0 0 5.577 225208 chr1 200819218 200819218 A C rs908748339 CAMSAP2 Synonymous SNV P1091P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 225209 chr10 75562831 75562831 A G NDST2 Synonymous SNV I774I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.028 225210 chr8 23423830 23423830 A G rs376194584 SLC25A37 Synonymous SNV G140G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.086 225211 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAAAA 0.001 0 0.007 2 1 0 0.005 2 0 0 1 0 225212 chr10 79570932 79570932 C T rs768143860 DLG5 Synonymous SNV P1461P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 225213 chr11 116738705 116738705 G A rs55780426 SIK3 Nonsynonymous SNV R589C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.6 225214 chr10 81318653 81318653 C G SFTPA2 Nonsynonymous SNV R104T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.11 225215 chr11 117042433 117042447 ACCAGCAACTACCAG - PAFAH1B2 T172_A176del 0 0 0 1 0 0 0.003 0 0 0 0 0 225216 chr14 94849227 94849227 G C rs759135389 SERPINA1 Nonsynonymous SNV I116M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 20.8 225217 chr10 863806 863806 C T rs61741957 LARP4B Synonymous SNV T518T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 225218 chr1 201786359 201786359 C T rs371533327 NAV1 Synonymous SNV P1434P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 225219 chr8 29048535 29048535 A G KIF13B Nonsynonymous SNV S68P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 225220 chr7 141418905 141418905 C T rs200326581 WEE2 Nonsynonymous SNV R207C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 225221 chr1 145537767 145537767 G A rs782217182 ITGA10 Nonsynonymous SNV A726T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 225222 chr15 50154563 50154563 C T rs146911077 ATP8B4 Nonsynonymous SNV R1059Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 225223 chr8 30701752 30701752 A C rs776506232 TEX15 Synonymous SNV P1977P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 225224 chr11 118352593 118352593 C T rs372782628 KMT2A Synonymous SNV P1266P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.49 225225 chr14 96752169 96752169 G C ATG2B Nonsynonymous SNV L2054V 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 225226 chr1 202976628 202976628 G A rs770319104 TMEM183A Nonsynonymous SNV R12H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 225227 chr11 118983068 118983068 C T rs376445949 C2CD2L Synonymous SNV T350T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 225228 chr11 8009117 8009117 C T rs776590320 EIF3F Nonsynonymous SNV P73L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 225229 chr8 41836213 41836213 G T KAT6A Synonymous SNV R330R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.264 225230 chr9 101778333 101778333 G A rs201389556 COL15A1 Nonsynonymous SNV G527S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.395 225231 chr10 97101055 97101055 A G SORBS1 Nonsynonymous SNV M536T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 225232 chr7 144096891 144096891 C G NOBOX Nonsynonymous SNV K371N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 225233 chr7 148701057 148701057 G A rs370731622 PDIA4 Synonymous SNV D590D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.576 225234 chr11 100998827 100998827 T C PGR Synonymous SNV E325E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.407 225235 chr7 149461667 149461667 T C ZNF467 Synonymous SNV A121A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 225236 chr7 149489773 149489773 C T rs770308355 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 225237 chr8 95470505 95470505 G A RAD54B Nonsynonymous SNV P99S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.902 225238 chr11 1017663 1017663 T G rs753772135 MUC6 Nonsynonymous SNV N1713T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 225239 chr7 151896420 151896420 G A rs376997793 KMT2C Nonsynonymous SNV P1406L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 225240 chr17 2577409 2577409 A G PAFAH1B1 Nonsynonymous SNV N243D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 225241 chr1 156849892 156849892 G A rs952114259 NTRK1 Synonymous SNV V710V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.416 225242 chr8 110463208 110463208 G A rs762018652 PKHD1L1 Synonymous SNV T2060T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 225243 chr15 42042105 42042105 T C MGA Synonymous SNV N1891N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 225244 chr1 157738326 157738326 C T rs147477160 FCRL2 Nonsynonymous SNV R254H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.441 225245 chr9 120476766 120476766 G A rs200905500 TLR4 Nonsynonymous SNV R587H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 225246 chr9 124794111 124794111 A G TTLL11 Nonsynonymous SNV I285T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.21 225247 chr9 124931993 124931993 C T rs139762512 MORN5 Nonsynonymous SNV R89W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 225248 chr11 1078320 1078320 G A rs72652894 MUC2 Nonsynonymous SNV D203N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.43 225249 chr8 124664527 124664527 A G rs776719058 KLHL38 Nonsynonymous SNV Y214H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 225250 chr11 108206649 108206649 G A rs150603052 ATM Synonymous SNV T2743T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.68 225251 chr8 6913026 6913026 C T rs7839771 DEFA5 Nonsynonymous SNV R71H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 0.001 225252 chr11 1082669 1082669 A T rs754353895 MUC2 Nonsynonymous SNV T640S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 225253 chr15 43748735 43748735 T C TP53BP1 Nonsynonymous SNV S691G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.01 225254 chr11 1095197 1095197 C G MUC2 Nonsynonymous SNV T2006R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.579 225255 chr11 1097226 1097226 C T rs183781914 MUC2 Synonymous SNV Y2214Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.9 225256 chr11 34129779 34129779 C T rs140188192 NAT10 Nonsynonymous SNV R3W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 225257 chr1 159557721 159557721 C T rs11545897 APCS Nonsynonymous SNV P4S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.32 225258 chr15 84442383 84442383 C T rs752183445 ADAMTSL3 Nonsynonymous SNV R100W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 225259 chr8 133900387 133900387 G A rs533964411 TG Nonsynonymous SNV E779K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 225260 chr8 139180178 139180178 C T rs186923774 FAM135B Synonymous SNV P406P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 225261 chr1 228404370 228404370 G A rs780536081 OBSCN Nonsynonymous SNV G782R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 225262 chr8 12947867 12947867 T A rs778690040 DLC1 Nonsynonymous SNV H812L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 225263 chr9 130269273 130269273 G C rs142795970 NIBAN2 Nonsynonymous SNV L685V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.34 225264 chr11 46407414 46407414 C T rs200034949 CHRM4 Nonsynonymous SNV E232K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.66 225265 chr9 130588924 130588924 G A rs199840979 ENG Nonsynonymous SNV P130S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.002 225266 chr8 142367472 142367472 C T rs368723756 GPR20 Synonymous SNV S184S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.096 225267 chr11 2016773 2016773 A C HOTS Nonsynonymous SNV K116T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.213 225268 chr9 132375827 132375827 G A rs566893379 C9orf50 Synonymous SNV S310S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.262 225269 chr8 22481481 22481481 C T rs780303402 BIN3 Nonsynonymous SNV G140S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 225270 chr1 235904821 235904821 C T rs116017878 LYST Synonymous SNV S2753S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.09 225271 chr11 123777795 123777795 T C OR8D4 Synonymous SNV A219A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 225272 chr9 134404627 134404627 C T rs148607951 UCK1 Synonymous SNV A132A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.09 225273 chr8 27779562 27779562 G A SCARA5 Nonsynonymous SNV R148W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 225274 chr1 17418908 17418908 A T PADI2 Nonsynonymous SNV V217E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 225275 chr8 28360541 28360541 C G rs140115204 FZD3 Nonsynonymous SNV T4S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.13 225276 chr11 55432781 55432781 A G rs374238537 OR4C6 Nonsynonymous SNV I47V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 225277 chr8 145165335 145165335 C G WDR97 Synonymous SNV A645A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.027 225278 chr1 242016737 242016737 C A EXO1 Nonsynonymous SNV T120N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.071 225279 chr15 73995250 73995251 CT - rs759867565 CD276 L40Dfs*17 0 0 0 2 0 0 0.005 0 0 0 0 0 225280 chr8 39782288 39782288 C G rs746221832 IDO1 Nonsynonymous SNV S235C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 225281 chr9 139753542 139753542 G A rs374853627 MAMDC4 Stop gain W1014X 0 0 0.007 1 0 0 0.003 2 0 0 0 0 45 225282 chr11 46367100 46367100 C T DGKZ Synonymous SNV D47D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.5 225283 chr11 130343428 130343428 C T rs780002833 ADAMTS15 Synonymous SNV C855C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 225284 chr9 140109640 140109640 G A rs374525491 NDOR1 Nonsynonymous SNV A353T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 225285 chr9 140123114 140123114 G A RNF224 Nonsynonymous SNV G16E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.803 225286 chr1 181752904 181752904 C T CACNA1E Synonymous SNV D1799D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 225287 chr9 140140094 140140094 T C rs367748850 FAM166A Nonsynonymous SNV T90A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 225288 chr9 140330620 140330620 G T rs746745798 ENTPD8 Nonsynonymous SNV L299M 0 0 0 1 0 0 0.003 0 0 0 0 0 7.037 225289 chr9 14842588 14842588 G A rs200064797 FREM1 Synonymous SNV S488S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.5 225290 chr9 17409441 17409441 A G rs772428535 CNTLN Synonymous SNV T921T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 225291 chr9 18504835 18504835 G C rs751177615 ADAMTSL1 Nonsynonymous SNV R24S 0.001 0 0 0 1 0 0 0 0 0 0 0 29 225292 chr1 184663259 184663259 T A EDEM3 Nonsynonymous SNV I913L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 225293 chr9 21350480 21350480 T C IFNA6 Nonsynonymous SNV N136S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 225294 chr8 95264376 95264376 G A rs976230477 GEM Stop gain R162X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 225295 chr11 2017809 2017809 G A H19 0 0 0.003 0 0 0 0 1 0 0 0 0 9.583 225296 chr11 26586721 26586721 G A MUC15 Nonsynonymous SNV P229S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 225297 chr15 90168262 90168262 G A rs748669288 TICRR Nonsynonymous SNV R1573Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 225298 chr11 3069221 3069221 G C CARS Stop gain Y12X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 225299 chr8 124340486 124340486 T G ATAD2 Nonsynonymous SNV N1271T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.469 225300 chr15 94928742 94928742 T C MCTP2 Synonymous SNV I180I 0 0 0 2 0 0 0.005 0 0 0 0 0 7.913 225301 chr10 17363193 17363193 T C rs143744686 ST8SIA6 Nonsynonymous SNV Q294R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 225302 chr9 75369762 75369762 G T rs200831684 TMC1 Nonsynonymous SNV A235S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.24 225303 chr1 201190748 201190748 A G IGFN1 Nonsynonymous SNV T3359A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 225304 chr11 3723841 3723841 T C NUP98 Nonsynonymous SNV M1075V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 225305 chr11 61580778 61580778 A G rs761434152 FADS1 Synonymous SNV Y141Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.382 225306 chr9 85611994 85611994 A - RASEF L618Cfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 225307 chr10 24762771 24762771 C T rs143282203 KIAA1217 Synonymous SNV H205H 0.005 0 0 3 6 0 0.008 0 0 0 0 0 4.135 225308 chr10 24832858 24832858 T C rs140162930 KIAA1217 Synonymous SNV N1553N 0.004 0 0 3 5 0 0.008 0 0 0 0 0 0.061 225309 chr11 62287849 62287849 G A rs781616197 AHNAK Synonymous SNV D4680D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 225310 chr11 45955645 45955645 A G rs748739458 PHF21A Synonymous SNV T639T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 225311 chr8 134488221 134488221 A C rs73359235 ST3GAL1 Nonsynonymous SNV V16G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 16.89 225312 chr10 29821630 29821630 G C rs551565684 SVIL Nonsynonymous SNV Q556E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.98 225313 chr11 55541620 55541620 G A rs7124871 OR5D13 Nonsynonymous SNV R236H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.01 225314 chr1 39341216 39341216 C G rs147274413 GJA9 Synonymous SNV P185P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 225315 chr11 64367361 64367361 C T rs767327882 SLC22A12 Synonymous SNV H320H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.063 225316 chr9 104335494 104335494 C T rs1000793266 GRIN3A Nonsynonymous SNV E1104K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 225317 chr16 19726083 19726083 C T rs548962099 KNOP1 Nonsynonymous SNV R92Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.969 225318 chr11 64808757 64808757 - C SAC3D1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 225319 chr11 64847136 64847136 C T rs140084832 CDCA5 Nonsynonymous SNV E123K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 2.776 225320 chr8 144919608 144919608 G A NRBP2 Synonymous SNV P349P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 225321 chr9 111705291 111705291 T A CTNNAL1 Nonsynonymous SNV M697L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 225322 chr11 65545574 65545574 C T rs368893783 AP5B1 Nonsynonymous SNV R797H 0 0.008 0 0 0 3 0 0 0 0 0 0 17.3 225323 chr16 22262582 22262582 G A rs151023929 EEF2K Nonsynonymous SNV R186H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 225324 chr9 111755050 111755050 T C rs377433878 CTNNAL1 Synonymous SNV E127E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.335 225325 chr11 66102686 66102686 C T rs144149331 RIN1 Nonsynonymous SNV R167Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.721 225326 chr8 145140851 145140851 G A GPAA1 Synonymous SNV L563L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 225327 chr11 5172875 5172875 T C rs748215471 OR52A1 Nonsynonymous SNV N242S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.828 225328 chr10 56106144 56106144 T C rs201496062 PCDH15 Nonsynonymous SNV Q170R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 15.12 225329 chr11 66460876 66460876 C T rs200491399 SPTBN2 Synonymous SNV A1545A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.22 225330 chr8 145580322 145580322 G A rs201204346 FBXL6 Nonsynonymous SNV R311C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 225331 chr11 67203389 67203389 G A rs150223900 PTPRCAP Nonsynonymous SNV R146W 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 22.4 225332 chr16 28498813 28498813 C - rs386833720 CLN3 V42Lfs*39 0 0 0 1 0 0 0.003 0 0 0 0 0 225333 chr16 28511176 28511184 CTCCTCCTC - rs1055258805 IL27 E174_E176del 0 0 0 1 0 0 0.003 0 0 0 0 0 225334 chr9 439370 439370 C T rs150682688 DOCK8 Synonymous SNV A1635A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.23 225335 chr11 68029444 68029444 G A rs755952812 C11orf24 Nonsynonymous SNV T340I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.54 225336 chr9 123657094 123657094 A T rs944368222 PHF19 Nonsynonymous SNV V5E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.515 225337 chr16 29848268 29848268 C G rs201515105 MVP Nonsynonymous SNV R300G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 225338 chr16 3021794 3021794 C T rs148876977 PAQR4 Nonsynonymous SNV R149C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 32 225339 chr10 72061226 72061226 G T rs75344031 LRRC20 Nonsynonymous SNV R97S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.2 225340 chr9 5462844 5462844 C T rs138119378 CD274 Synonymous SNV N21N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.475 225341 chr9 5923156 5923156 A G rs764872430 KIAA2026 Nonsynonymous SNV L947P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 225342 chr10 72541582 72541582 G T rs146225782 TBATA Nonsynonymous SNV H84Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.818 225343 chr16 31096442 31096442 G A rs370867880 PRSS53 Synonymous SNV H341H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.614 225344 chr11 73022732 73022732 G A rs377437143 ARHGEF17 Nonsynonymous SNV G1017S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.861 225345 chr1 228288937 228288939 ATG - rs763550395 C1orf35 H229del 0.001 0 0 0 1 0 0 0 0 0 0 0 225346 chr11 5841749 5841749 T C rs541807315 OR52N2 Nonsynonymous SNV Y62H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 225347 chr11 56344311 56344311 T G rs761080585 OR5M10 Nonsynonymous SNV D296A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 225348 chr11 5862415 5862415 G A rs753895740 OR52E6 Nonsynonymous SNV A238V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 225349 chr9 131021469 131021469 G A rs138214998 GOLGA2 Nonsynonymous SNV R653C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 225350 chr10 88476312 88476312 G A rs146265188 LDB3 Nonsynonymous SNV R424H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 31 225351 chr9 35739654 35739654 C T rs376867651 GBA2 Nonsynonymous SNV R518Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.352 225352 chr1 65095151 65095151 G A rs866399144 CACHD1 Nonsynonymous SNV E211K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.1 225353 chr1 235338529 235338529 G T ARID4B Nonsynonymous SNV P1126T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 225354 chr11 92533555 92533555 A G rs118056487 FAT3 Nonsynonymous SNV Q2459R 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 22 225355 chr1 235950657 235950657 T G rs767687843 LYST Nonsynonymous SNV N1569H 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Uncertain significance 25.1 225356 chr1 68904930 68904930 A T rs781460267 RPE65 Nonsynonymous SNV W268R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 225357 chr10 96971727 96971727 G A rs777799687 ACSM6 Stop gain W283X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 36 225358 chr1 82432118 82432118 G A rs538105960 ADGRL2 Nonsynonymous SNV R708Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 225359 chr9 136227287 136227287 G A rs782705626 SURF2 Nonsynonymous SNV G222R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 225360 chr10 99343406 99343406 C T rs372700220 ANKRD2 Nonsynonymous SNV P303L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.66 225361 chr9 87359980 87359980 C T rs145968424 NTRK2 Nonsynonymous SNV H274Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 225362 chr16 630946 630946 G A rs145602990 PIGQ Nonsynonymous SNV R502Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 34 225363 chr9 91660696 91660696 A G SHC3 Nonsynonymous SNV F389S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.746 225364 chr11 62932049 62932049 C G rs17157907 SLC22A25 Nonsynonymous SNV G448A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 225365 chr1 245862249 245862249 G A rs200107755 KIF26B Nonsynonymous SNV E2030K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 225366 chr11 62996860 62996860 G A rs35722529 SLC22A25 Nonsynonymous SNV R89C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 225367 chr9 94486355 94486355 C A ROR2 Nonsynonymous SNV Q807H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 225368 chr11 63064835 63064835 C T rs150847763 SLC22A10 Synonymous SNV C189C 0 0 0 1 0 0 0.003 0 0 0 0 0 7.219 225369 chr11 63064894 63064894 C A rs77350650 SLC22A10 Nonsynonymous SNV S209Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 225370 chr9 138395423 138395423 A G rs35140806 MRPS2 Nonsynonymous SNV D112G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.21 225371 chr11 63487782 63487782 C T rs116807490 RTN3 Nonsynonymous SNV P491L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.89 225372 chr10 102114263 102114263 G A rs781236113 SCD Nonsynonymous SNV R174Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.1 225373 chr11 63713377 63713377 C T rs61740809 NAA40 Synonymous SNV A3A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.7 225374 chr11 62677853 62677853 G A rs199940891 CHRM1 Synonymous SNV S240S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.773 225375 chr11 64520569 64520569 G A rs11231865 PYGM Synonymous SNV P410P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 11.59 225376 chr11 114569300 114569300 C T NXPE2 Synonymous SNV N222N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.979 225377 chr11 64875403 64875403 C T VPS51 Stop gain Q212X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 225378 chr11 64880115 64880115 C T TM7SF2 Nonsynonymous SNV R61W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.12 225379 chr16 737594 737594 G A rs143792602 WDR24 Synonymous SNV P209P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.547 225380 chr9 109687976 109687976 G A rs201536868 ZNF462 Nonsynonymous SNV A595T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.69 225381 chr11 65363157 65363157 C T rs761133797 KCNK7 Synonymous SNV Q29Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.93 225382 chr10 114901049 114901049 - A TCF7L2 Frameshift insertion P78Tfs*107 0 0 0 1 0 0 0.003 0 0 0 0 0 225383 chr11 65387035 65387035 G A rs61747472 PCNX3 Nonsynonymous SNV R578H 0 0 0 2 0 0 0.005 0 0 0 0 0 17.33 225384 chr11 118243308 118243308 C G rs149631434 UBE4A Synonymous SNV T216T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.69 225385 chr11 65616999 65616999 G A rs145234691 SNX32 Synonymous SNV E29E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 225386 chr11 119059799 119059799 A T PDZD3 Nonsynonymous SNV Q458L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.34 225387 chr9 140991034 140991034 G A rs199602192 CACNA1B Synonymous SNV R1731R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 225388 chr11 65271236 65271236 C A rs202101732 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 225389 chr1 26508407 26508407 A G CNKSR1 Nonsynonymous SNV E151G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.974 225390 chr20 1286674 1286674 A G rs771572314 SNPH Synonymous SNV P487P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 225391 chr11 65733957 65733957 G A rs75194122 SART1 Nonsynonymous SNV R373Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 225392 chr11 65824350 65824350 C T rs777747236 SF3B2 Synonymous SNV A197A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.09 225393 chr10 118424377 118424377 T C C10orf82 Nonsynonymous SNV E119G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 225394 chr11 65984043 65984043 A C rs114730283 PACS1 Synonymous SNV S286S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.472 225395 chr11 66001386 66001386 A C rs115947278 PACS1 Nonsynonymous SNV M657L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.8 225396 chr11 66083296 66083296 C T rs113882023 CD248 Synonymous SNV T401T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.12 225397 chr11 66100029 66100029 G A rs145710377 RIN1 Synonymous SNV A662A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 11.49 225398 chr11 66101594 66101594 C T rs748556177 RIN1 Nonsynonymous SNV G435S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 225399 chr10 3823970 3823970 G A rs372338890 KLF6 Nonsynonymous SNV S180L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 225400 chr11 66243374 66243374 C T rs116062588 PELI3 Synonymous SNV R275R 0 0 0 2 0 0 0.005 0 0 0 0 0 13.4 225401 chr11 66260557 66260557 G A rs147519149 DPP3 Synonymous SNV T371T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 14.67 225402 chr11 66299445 66299445 A G rs150553044 BBS1 Synonymous SNV Q573Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 2.469 225403 chr11 66366986 66366986 G C rs201630725 CCS Nonsynonymous SNV V103L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 225404 chr11 66472245 66472245 G A rs780176754 SPTBN2 Synonymous SNV Y834Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.026 225405 chr11 66475224 66475224 C T rs145249947 SPTBN2 Synonymous SNV T472T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 17.44 225406 chr11 123909072 123909072 T A rs149133950 OR10G7 Nonsynonymous SNV I213L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.57 225407 chr16 841174 841174 G A rs760342767 CHTF18 Nonsynonymous SNV C303Y 0 0 0 2 0 0 0.005 0 0 0 0 0 28.6 225408 chr11 66620127 66620127 C T rs139074169 PC Synonymous SNV P536P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 16.6 225409 chr11 6662271 6662271 G A rs267603132 DCHS1 Nonsynonymous SNV R192W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 225410 chr11 67132619 67132625 AGCCCCC - rs140997186 CLCF1 G211Mfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 225411 chr11 6735667 6735667 G C rs56215530 GVINP1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.132 225412 chr11 67202493 67202493 G C rs11827998 RPS6KB2 Synonymous SNV R434R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.556 225413 chr1 29609275 29609275 C T rs775035994 PTPRU Synonymous SNV T652T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 225414 chr11 67402333 67402333 A T rs117056541 TBX10 Nonsynonymous SNV Y111N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.9 225415 chr11 67410279 67410279 G A rs776815218 ACY3 Synonymous SNV G292G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.529 225416 chr1 32150436 32150436 G T rs375296168 COL16A1 Nonsynonymous SNV L680M 0.002 0 0 0 2 0 0 0 0 0 0 0 16.18 225417 chr11 124954762 124954762 C A rs982673222 SLC37A2 Nonsynonymous SNV S389R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 225418 chr11 68552376 68552376 C T rs776195624 CPT1A Nonsynonymous SNV R357Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 225419 chr1 3411283 3411283 G A rs745352508 MEGF6 Synonymous SNV G1298G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.246 225420 chr1 3431175 3431175 G A MEGF6 Synonymous SNV G264G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.457 225421 chr11 71724081 71724081 G A rs778315290 NUMA1 Nonsynonymous SNV R1490C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 225422 chr20 2733035 2733035 C G EBF4 Nonsynonymous SNV R458G 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 225423 chr9 126129485 126129485 C T rs758566750 CRB2 Synonymous SNV D263D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.7 225424 chr11 71940211 71940211 G A rs201173863 INPPL1 Nonsynonymous SNV G199D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 225425 chr12 266714 266714 A G rs782400785 IQSEC3 Nonsynonymous SNV N463S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 225426 chr11 73768547 73768547 C A C2CD3 Nonsynonymous SNV C1665F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 225427 chr11 723327 723327 - C rs758700198 EPS8L2 Frameshift insertion V478Sfs*25 0 0 0 1 0 0 0.003 0 0 0 0 0 225428 chr9 130197461 130197461 G A rs751471172 ZNF79 Synonymous SNV G42G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.371 225429 chr20 3211846 3211846 G A rs138137682 SLC4A11 Nonsynonymous SNV R347W 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 225430 chr10 29813441 29813441 C T rs960355497 SVIL Nonsynonymous SNV R423H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 225431 chr11 76796019 76796019 C T rs143254975 CAPN5 Synonymous SNV D29D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 225432 chr20 34063365 34063365 A G rs760339581 CEP250 Nonsynonymous SNV E537G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 225433 chr10 30727970 30727970 G T rs767144818 MAP3K8 Nonsynonymous SNV A35S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.891 225434 chr11 76371565 76371565 G A rs150096749 LRRC32 Nonsynonymous SNV R248C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 225435 chr10 31812962 31812962 T C rs147142042 ZEB1 Synonymous SNV N827N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.328 225436 chr10 34673083 34673083 G A rs151122883 PARD3 Synonymous SNV G286G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 15.15 225437 chr11 7949854 7949854 G A rs768189254 OR10A6 Nonsynonymous SNV A119V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 225438 chr11 433423 433423 G A rs778341013 ANO9 Nonsynonymous SNV R81C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 225439 chr12 6567965 6567965 C T TAPBPL Synonymous SNV S353S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.99 225440 chr1 45475906 45475906 G A rs182666370 HECTD3 Nonsynonymous SNV A197V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.691 225441 chr16 9923445 9923445 A G rs138236719 GRIN2A Synonymous SNV N614N 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 3.391 225442 chr1 4772376 4772376 A G AJAP1 Nonsynonymous SNV Q149R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 225443 chr11 8478972 8478972 C G rs201729740 STK33 Nonsynonymous SNV D18H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.73 225444 chr1 50666632 50666632 G A rs746506386 ELAVL4 Nonsynonymous SNV D287N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 225445 chr9 136380685 136380685 G A rs538117168 MYMK Synonymous SNV S148S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 225446 chr10 61830712 61830712 A T ANK3 Synonymous SNV P3309P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 225447 chr9 139747902 139747902 C T rs547550096 MAMDC4 Nonsynonymous SNV T107I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 225448 chr12 18552615 18552615 T C rs200263951 PIK3C2G Nonsynonymous SNV Y676H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 225449 chr12 102079425 102079425 C T rs546715409 MYBPC1 Stop gain R1129X 0 0 0 2 0 0 0.005 0 0 0 0 0 4.298 225450 chr12 21919331 21919331 C T rs750317966 KCNJ8 Nonsynonymous SNV V201I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.91 225451 chr12 112338999 112339002 CAAA - rs572676969 ADAM1A 0 0 0.003 0 0 0 0 1 0 0 0 0 225452 chr10 75871773 75871773 C G rs368570586 VCL Nonsynonymous SNV P951R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.79 225453 chr11 1856593 1856605 TGCTGCCTGCTGC - SYT8 C72Afs*64 0 0 0 1 0 0 0.003 0 0 0 0 0 225454 chr12 26275874 26275874 C T rs372622178 BHLHE41 Nonsynonymous SNV A192T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.07 225455 chr10 76972012 76972012 C T VDAC2 Nonsynonymous SNV A19V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 225456 chr12 27113459 27113459 A G FGFR1OP2 Synonymous SNV V136V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.9 225457 chr9 140446895 140446895 C T rs199842194 MRPL41 Nonsynonymous SNV P121L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 225458 chr12 113596736 113596736 G A rs2305901 DDX54 Synonymous SNV G865G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 225459 chr12 113618755 113618755 - CTT rs147593229 DDX54 K94_S95insK 0 0 0.003 0 0 0 0 1 0 0 0 0 225460 chr10 3151600 3151600 C T rs770140046 PFKP Synonymous SNV D123D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.626 225461 chr12 117922337 117922337 G A rs377527320 KSR2 Synonymous SNV H778H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.936 225462 chr17 34171683 34171683 - GGCGGCTATGGTGGGGACAGAGGA rs762946549 TAF15 G482_Y483insGYGGDRGG 0.001 0 0 1 1 0 0.003 0 0 0 0 0 225463 chr11 4673878 4673878 C T rs202046967 OR51E1 Nonsynonymous SNV A41V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.1 225464 chr1 82415923 82415923 A G rs139594598 ADGRL2 Nonsynonymous SNV I417V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 225465 chr12 46765009 46765009 T C rs150659846 SLC38A2 Nonsynonymous SNV N23S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 225466 chr12 124101285 124101285 G T rs879266240 SNORA9B 0 0 0.01 0 0 0 0 3 0 0 0 0 3.795 225467 chr10 14909186 14909186 G A rs759678912 HSPA14 Synonymous SNV V366V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.609 225468 chr10 15146097 15146097 A G RPP38 Nonsynonymous SNV K262E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 225469 chr12 117705869 117705869 G A rs202177894 NOS1 Synonymous SNV I304I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.368 225470 chr1 89430628 89430628 G T rs138622110 KYAT3 Nonsynonymous SNV L79M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 225471 chr12 49435254 49435254 G A rs199761931 KMT2D Nonsynonymous SNV P2100L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 225472 chr10 98743267 98743267 G A rs377145008 LCOR Nonsynonymous SNV S1017N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 225473 chr12 13136488 13136488 C T rs735688 GPRC5D-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 8.294 225474 chr10 23633691 23633691 G A rs764306231 C10orf67 Nonsynonymous SNV R6W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 225475 chr10 23728526 23728526 A C rs753468771 OTUD1 Nonsynonymous SNV E47A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 225476 chr12 132839163 132839163 G C GALNT9 Synonymous SNV V156V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.425 225477 chr10 102766417 102766417 C A rs370440218 LZTS2 Nonsynonymous SNV A281D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 225478 chr10 102766418 102766418 T C rs768340088 LZTS2 Synonymous SNV A281A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.269 225479 chr12 52639459 52639459 G A rs200404492 KRT7-AS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.268 225480 chr21 36259347 36259347 G A rs147889692 RUNX1 Synonymous SNV S21S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.22 225481 chr21 37410526 37410526 C T rs752063984 SETD4 Synonymous SNV T370T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.21 225482 chr21 38114097 38114097 C T rs762530474 SIM2 Synonymous SNV Y310Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 225483 chr10 105902111 105902111 A G rs372289509 CFAP43 Nonsynonymous SNV F1400S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 29.8 225484 chr10 106136567 106136567 A C rs201299517 CFAP58 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 225485 chr10 43615142 43615142 C G rs377767426 RET Nonsynonymous SNV I598M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 225486 chr12 53680531 53680531 T A ESPL1 Synonymous SNV G1337G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.595 225487 chr12 21693436 21693436 C T GYS2 Nonsynonymous SNV G573R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 225488 chr10 115917350 115917350 G C CCDC186 Nonsynonymous SNV T241R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 225489 chr12 132498058 132498058 A G rs142712946 EP400 Nonsynonymous SNV D1212G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.866 225490 chr12 132625206 132625206 C T rs137859936 DDX51 Synonymous SNV S505S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 225491 chr12 55523874 55523874 A G rs767598152 OR9K2 Nonsynonymous SNV I108V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.18 225492 chr12 56638928 56638928 C T rs199630200 ANKRD52 Synonymous SNV S817S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.87 225493 chr10 50178309 50178309 G A rs569381817 WDFY4 Nonsynonymous SNV R2968H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 225494 chr21 45540980 45540980 G C rs149397571 LOC102724159, PWP2 Nonsynonymous SNV D545H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 225495 chr21 45838383 45838383 C T rs143493112 TRPM2 Stop gain R1136X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 225496 chr12 15090970 15090970 G A rs778034119 ERP27 Synonymous SNV A37A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.08 225497 chr12 57850537 57850537 G A rs144527638 INHBE Nonsynonymous SNV R320Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 225498 chr12 1702929 1702929 T G rs117331652 FBXL14 Nonsynonymous SNV N102H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 225499 chr12 57872372 57872372 C T rs149727404 ARHGAP9 Nonsynonymous SNV G162E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.813 225500 chr12 20903822 20903822 C T rs748467125 SLCO1C1 Nonsynonymous SNV A553V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.25 225501 chr11 8645940 8645940 C T rs769279821 TRIM66 Synonymous SNV T819T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.37 225502 chr17 43246906 43246906 C T rs146516847 HEXIM2 Synonymous SNV Y219Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.652 225503 chr21 47742557 47742557 C A rs765562849 C21orf58 Synonymous SNV L32L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.734 225504 chr17 43893836 43893836 G A rs767352596 CRHR1 Synonymous SNV Q43Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.63 225505 chr12 47471957 47471957 C T rs140554877 AMIGO2 Nonsynonymous SNV D277N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.74 225506 chr10 133058649 133058649 G A rs149055623 TCERG1L Synonymous SNV A243A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.791 225507 chr17 44962458 44962458 G A rs145757598 WNT9B Synonymous SNV A321A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.356 225508 chr17 45425216 45425216 G A EFCAB13 Nonsynonymous SNV G187D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.6 225509 chr20 2380368 2380368 C T rs371740473 TGM6 Synonymous SNV A278A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.82 225510 chr12 29786126 29786126 G A rs142394560 TMTC1 Nonsynonymous SNV A361V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.84 225511 chr12 29920870 29920870 C G rs112570774 TMTC1 Synonymous SNV T147T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.97 225512 chr17 46700295 46700295 C T rs779317784 HOXB9 Nonsynonymous SNV M240I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.4 225513 chr12 31135625 31135625 G A TSPAN11 Synonymous SNV E195E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 225514 chr11 17631246 17631246 G A OTOG Nonsynonymous SNV E1479K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.4 225515 chr12 88512307 88512307 T A rs369231584 CEP290 Nonsynonymous SNV K555I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 225516 chr20 31023186 31023186 G A rs774520876 ASXL1 Nonsynonymous SNV V830I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 1.097 225517 chr11 18956244 18956244 G A rs758783530 MRGPRX1 Nonsynonymous SNV L30F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 225518 chr20 32250214 32250214 G A C20orf144 Synonymous SNV P21P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.841 225519 chr10 75276308 75276308 C T rs138689241 USP54 Synonymous SNV T1235T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.383 225520 chr10 75556714 75556714 G A rs574600217 ZSWIM8 Synonymous SNV G1067G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 225521 chr12 105151210 105151210 C T CHST11 Nonsynonymous SNV R225C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 225522 chr12 50367227 50367227 G A rs764605030 AQP6 Nonsynonymous SNV V91I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 225523 chr11 33374912 33374912 A T HIPK3 Nonsynonymous SNV H1128L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 225524 chr12 108912183 108912183 A G rs143030475 FICD Nonsynonymous SNV K103R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.033 225525 chr11 40137471 40137471 C T rs372663008 LRRC4C Synonymous SNV A124A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.718 225526 chr20 40790163 40790163 C T PTPRT Synonymous SNV E837E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.18 225527 chr12 56115184 56115184 C T RDH5 Synonymous SNV A72A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.409 225528 chr17 60741937 60741937 T C MRC2 Synonymous SNV H49H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.333 225529 chr12 109665241 109665241 C T rs148959305 ACACB Synonymous SNV D1316D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.53 225530 chr12 56427034 56427034 G A rs201980839 IKZF4 Nonsynonymous SNV R264Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 225531 chr11 46465100 46465100 T C rs145534913 AMBRA1 Nonsynonymous SNV N797S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24 225532 chr12 109999612 109999612 A G rs147457956 MMAB Nonsynonymous SNV C132R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.236 225533 chr17 62018463 62018463 C T rs747666894 SCN4A Nonsynonymous SNV E1727K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 33 225534 chr12 52579315 52579315 C T rs151324530 KRT80 Synonymous SNV Q119Q 0 0 0 2 0 0 0.005 0 0 0 0 0 11.27 225535 chr17 62500885 62500885 T G DDX5 Nonsynonymous SNV K40N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 225536 chr11 1017566 1017566 G A rs762660384 MUC6 Synonymous SNV T1745T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.31 225537 chr12 57892216 57892216 C T rs139661803 MARS Nonsynonymous SNV R301C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 33 225538 chr12 58007063 58007063 C G ARHGEF25 Nonsynonymous SNV P110R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 225539 chr10 98362146 98362146 C A rs147376017 PIK3AP1 Nonsynonymous SNV V751F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.84 225540 chr12 113629150 113629150 C T rs16942601 RITA1 Nonsynonymous SNV S137L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 225541 chr12 114282497 114282497 G A rs150329912 RBM19 Nonsynonymous SNV R921W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 225542 chr12 117013859 117013859 T A MAP1LC3B2 Nonsynonymous SNV Y38N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 225543 chr12 117660550 117660550 C T rs763116167 NOS1 Synonymous SNV T979T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.92 225544 chr12 120128091 120128091 G A rs766445204 CIT Synonymous SNV P1975P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.887 225545 chr20 50139715 50139715 G A rs768655246 NFATC2 Synonymous SNV C335C 0.002 0 0 0 2 0 0 0 0 0 0 0 1.611 225546 chr12 66742853 66742853 C T GRIP1 Synonymous SNV Q1044Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.287 225547 chr12 53292738 53292738 C T MIR9898 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.888 225548 chr11 1096510 1096510 G A rs140713811 MUC2 Nonsynonymous SNV V2179M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 225549 chr12 6980444 6980444 A G rs375936158 SPSB2 Nonsynonymous SNV V235A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 225550 chr22 40803828 40803828 G A rs369832919 SGSM3 Synonymous SNV G457G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.275 225551 chr12 122691861 122691861 G A rs769085783 B3GNT4 Nonsynonymous SNV E330K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 225552 chr12 123340625 123340625 T C rs748973151 HIP1R Synonymous SNV N409N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.146 225553 chr10 102770288 102770288 - CGGCTGCTGCGG rs763555201 PDZD7 R786_G787insRSSR 0.001 0 0 0 1 0 0 0 0 0 0 0 225554 chr10 105185146 105185146 G T rs776170284 PDCD11 Nonsynonymous SNV D1057Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 225555 chr12 7805293 7805293 G A rs773777459 APOBEC1 Synonymous SNV H16H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.756 225556 chr10 105371363 105371363 G A SH3PXD2A Nonsynonymous SNV P309L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 225557 chr11 3249311 3249311 C T rs200161606 MRGPRE Nonsynonymous SNV R240Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.03 225558 chr12 85417138 85417138 A G TSPAN19 Nonsynonymous SNV V102A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 225559 chr11 4567295 4567295 C T rs754373122 OR52M1 Nonsynonymous SNV P292L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 225560 chr13 21751129 21751129 G C rs373831796 MRPL57 Nonsynonymous SNV R25P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 225561 chr22 50617590 50617590 G C rs749572106 PANX2 Nonsynonymous SNV G640R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 225562 chr12 96883405 96883405 C T rs964132214 CFAP54 Synonymous SNV S6S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 225563 chr17 74392592 74392592 T C UBE2O Nonsynonymous SNV K809R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 225564 chr22 50720642 50720642 G C rs368989847 PLXNB2 Nonsynonymous SNV R1030G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 225565 chr12 98849526 98849529 AGAG - rs573177129 SLC9A7P1 0 0 0.007 0 0 0 0 2 0 0 0 0 225566 chr22 51018657 51018657 G C rs781264108 CHKB Synonymous SNV L260L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.75 225567 chr10 127520142 127520142 C T rs779411460 BCCIP Nonsynonymous SNV P189S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 225568 chr17 76498532 76498532 C T rs537773319 DNAH17-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 0.471 225569 chr10 129903108 129903108 C T rs773080435 MKI67 Synonymous SNV T1972T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 225570 chr2 102626282 102626282 C T rs910614022 IL1R2 Nonsynonymous SNV T109I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 225571 chr13 33018121 33018121 C A rs201479580 N4BP2L2 Nonsynonymous SNV D170Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25 225572 chr2 106690499 106690499 G A rs183729457 ECRG4 Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 225573 chr13 113798181 113798181 G A F10 Synonymous SNV G129G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.224 225574 chr18 19080602 19080602 C T rs375284727 GREB1L Synonymous SNV T1357T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.772 225575 chr17 78321478 78321478 G A rs746145556 RNF213 Nonsynonymous SNV A3115T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 225576 chr11 6292416 6292416 G T rs200700735 CCKBR Nonsynonymous SNV K245N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 225577 chr11 6341400 6341400 C T rs565538428 CAVIN3 Nonsynonymous SNV A103T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 225578 chr17 79100262 79100262 G A rs117052072 AATK Synonymous SNV G137G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.151 225579 chr11 59623424 59623424 G A rs72550759 TCN1 Synonymous SNV N285N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 3.369 225580 chr2 113736255 113736255 - C rs748815896 IL36G Frameshift insertion V15Rfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 225581 chr17 80040264 80040264 G T FASN Nonsynonymous SNV N1982K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 225582 chr17 80046896 80046896 G A rs757099118 FASN Synonymous SNV H751H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.719 225583 chr19 49618132 49618132 G C LIN7B Nonsynonymous SNV E22Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 225584 chr21 39817506 39817506 A G ERG Synonymous SNV F19F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.002 225585 chr13 76179898 76179898 C A UCHL3 Nonsynonymous SNV R179S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 225586 chr13 77531447 77531447 C T ACOD1 Nonsynonymous SNV A258V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.972 225587 chr13 77745713 77745713 T C MYCBP2 Nonsynonymous SNV D1903G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 225588 chr13 79939843 79939843 G A rs145460275 RBM26 Synonymous SNV D434D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.777 225589 chr13 37679199 37679199 C A CSNK1A1L Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 225590 chr13 103387265 103387265 T C rs777005509 CCDC168 Nonsynonymous SNV Q5261R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 225591 chr11 62388526 62388526 C T B3GAT3 0 0 0 1 0 0 0.003 0 0 0 0 0 16.17 225592 chr13 39587555 39587555 T C PROSER1 Nonsynonymous SNV T590A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 225593 chr13 99738533 99738533 T C DOCK9 Nonsynonymous SNV T25A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.59 225594 chr2 135621090 135621090 G A rs140020920 ACMSD Synonymous SNV A67A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.342 225595 chr11 63884671 63884671 G A rs140497307 FLRT1 Nonsynonymous SNV R311H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.82 225596 chr13 51825654 51825654 A G FAM124A Nonsynonymous SNV I51V 0 0 0.007 0 0 0 0 2 0 0 1 0 11.1 225597 chr21 45924693 45924693 C T rs144743367 TSPEAR Nonsynonymous SNV R609H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 225598 chr2 152409939 152409939 G A rs760335435 NEB Synonymous SNV A4867A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.62 225599 chr13 115010407 115010407 A G rs1033609877 CDC16 Synonymous SNV V176V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 225600 chr13 113798361 113798361 C A F10 Synonymous SNV T189T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 225601 chr13 79945120 79945120 A G rs559088090 RBM26 Synonymous SNV D198D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.08 225602 chr11 65164285 65164285 C T rs372769195 FRMD8 Synonymous SNV S143S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.73 225603 chr13 114059627 114059627 T C rs575408133 LOC101928841 Nonsynonymous SNV M960V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.45 225604 chr13 24200888 24200888 G A rs199955294 TNFRSF19 Synonymous SNV E2E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.75 225605 chr13 115089835 115089837 CTC - rs535593712 CHAMP1 P174del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 225606 chr13 25743777 25743777 C T AMER2 Nonsynonymous SNV A661T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.3 225607 chr11 19206562 19206562 T A CSRP3 Nonsynonymous SNV I149F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 22.9 225608 chr18 29625684 29625684 C T rs142382122 RNF125 Nonsynonymous SNV R165W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 27.1 225609 chr18 72775474 72775474 C G rs532769963 ZNF407 Nonsynonymous SNV Q1933E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.58 225610 chr14 101419725 101419725 C T rs79074703 SNORD114-3 0 0 0.01 0 0 0 0 3 0 0 0 0 9.118 225611 chr18 31319857 31319857 A G rs745502504 ASXL3 Nonsynonymous SNV N830S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 225612 chr2 168725713 168725713 C G rs199573451 B3GALT1 Nonsynonymous SNV T55S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 225613 chr18 42533301 42533301 T C SETBP1 Synonymous SNV S1332S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.338 225614 chr19 855708 855708 G A rs202069727 ELANE Nonsynonymous SNV E171K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.2 225615 chr14 21792918 21792918 C G rs200325360 RPGRIP1 Nonsynonymous SNV A635G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.2 225616 chr14 105180755 105180755 C T rs963526666 INF2 Synonymous SNV L1086L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.158 225617 chr2 170502544 170502547 TATT - rs777990770 CCDC173 K488Ifs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 225618 chr11 36595431 36595431 G A rs34841221 RAG1 Nonsynonymous SNV E193K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.8 225619 chr11 36615075 36615075 G A rs35691292 RAG2 Nonsynonymous SNV T215I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 225620 chr2 172931008 172931008 G A rs138869820 METAP1D Nonsynonymous SNV G54R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 225621 chr2 179398195 179398195 C G rs148525155 TTN Nonsynonymous SNV E25318Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 225622 chr14 20903433 20903433 C G rs374606404 KLHL33 Nonsynonymous SNV D180H 0 0 0.007 0 0 0 0 2 0 0 0 0 5.893 225623 chr2 179501288 179501288 G A rs143049740 TTN Synonymous SNV D4657D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.016 225624 chr2 179577998 179577998 T C rs72648994 TTN Nonsynonymous SNV I7711V 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.66 225625 chr14 23072455 23072455 G T rs753066728 ABHD4 Synonymous SNV L91L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.584 225626 chr14 23249169 23249169 C T rs750720946 SLC7A7 Synonymous SNV A197A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 225627 chr14 24002616 24002616 A T ZFHX2 Nonsynonymous SNV L640Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 225628 chr14 24652301 24652301 C T rs745476832 IPO4 Nonsynonymous SNV V768M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 225629 chr14 39716705 39716705 G T rs755400904 MIA2 Nonsynonymous SNV W309C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 225630 chr14 45369723 45369723 - G rs756741252 C14orf28 Frameshift insertion V32Cfs*19 0 0.003 0 0 0 1 0 0 0 0 0 0 225631 chr14 47120790 47120790 - CCA rs764517391 RPL10L G50_H51insG 0 0.003 0 0 0 1 0 0 0 0 0 0 225632 chr22 37535214 37535214 G A rs369774326 IL2RB Nonsynonymous SNV R111C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.15 225633 chr2 189858802 189858802 C T rs745743884 COL3A1 Synonymous SNV G396G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.53 225634 chr11 55339756 55339756 G A rs367941415 OR4C16 Synonymous SNV Q51Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 225635 chr11 55433292 55433292 C T rs150924885 OR4C6 Nonsynonymous SNV T217M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.703 225636 chr22 38130676 38130676 A G rs199640717 TRIOBP Nonsynonymous SNV R1445G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.75 225637 chr11 55927379 55927379 G A rs199580379 OR8K5 Stop gain R139X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 225638 chr14 39648349 39648349 A C rs141299673 PNN Synonymous SNV R185R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.067 225639 chr14 42356171 42356171 A G LRFN5 Nonsynonymous SNV T115A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 225640 chr22 39911253 39911253 C T rs760580493 MIEF1 Nonsynonymous SNV R438C 0.002 0 0 0 2 0 0 0 0 0 0 0 2.279 225641 chr11 108382493 108382493 C A EXPH5 Synonymous SNV L1059L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.55 225642 chr22 42095710 42095710 C T MEI1 Synonymous SNV G56G 0.002 0 0 0 2 0 0 0 0 0 0 0 18.33 225643 chr22 42099430 42099430 C G rs370420660 MEI1 Synonymous SNV V90V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 225644 chr2 203500102 203500102 C A FAM117B Nonsynonymous SNV N64K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 225645 chr11 7723724 7723724 A G OVCH2 Nonsynonymous SNV M148T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 225646 chr14 64519309 64519309 C T SYNE2 Nonsynonymous SNV T2893I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.45 225647 chr11 117165985 117165985 G A rs140380263 BACE1 Synonymous SNV T43T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.23 225648 chr22 44495952 44495952 G A rs147225622 PARVB Synonymous SNV T37T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.42 225649 chr14 63174541 63174541 C T rs143147156 KCNH5 Synonymous SNV P884P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.829 225650 chr14 23826669 23826669 C G rs751872202 EFS Synonymous SNV L391L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.2 225651 chr14 74762607 74762607 G A ABCD4 Synonymous SNV G47G 0.001 0.005 0 0 1 2 0 0 0 1 0 0 12.39 225652 chr11 56510863 56510863 C T rs202011066 OR9G4 Nonsynonymous SNV C142Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 225653 chr11 123599912 123599912 C T ZNF202 Synonymous SNV V208V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.16 225654 chr14 74179994 74179994 G T rs199673411 PNMA1 Nonsynonymous SNV Q117K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 225655 chr11 18587993 18587993 T C UEVLD Nonsynonymous SNV I2V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 225656 chr19 9005654 9005654 T C rs903673829 MUC16 Nonsynonymous SNV D13251G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.86 225657 chr11 18736163 18736163 C T IGSF22 Nonsynonymous SNV A514T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 225658 chr14 89077210 89077210 G A rs149865117 ZC3H14 Synonymous SNV P280P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.88 225659 chr14 75078634 75078634 G A rs748853771 LTBP2 Nonsynonymous SNV T5I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 225660 chr14 76012948 76012948 C A BATF Synonymous SNV P104P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 225661 chr14 76620907 76620907 A G rs147501743 GPATCH2L Synonymous SNV S67S 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 6.847 225662 chr14 77697964 77697964 C T rs2302830 TMEM63C Synonymous SNV D128D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 225663 chr2 220085807 220085807 A G ATG9A Nonsynonymous SNV I788T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.21 225664 chr11 59620464 59620464 C T rs147187383 TCN1 Nonsynonymous SNV R429H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 225665 chr14 78182188 78182188 T A rs199752740 SLIRP Nonsynonymous SNV L77Q 0 0 0.007 0 0 0 0 2 0 0 0 0 33 225666 chr19 9067742 9067742 G A MUC16 Synonymous SNV S6568S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.105 225667 chr2 10560003 10560003 C T rs143370055 HPCAL1 Synonymous SNV T40T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.04 225668 chr11 31477905 31477905 T C rs142948682 IMMP1L Nonsynonymous SNV S75G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 225669 chr14 89084617 89084617 A G rs201625686 EML5 Nonsynonymous SNV M1866T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.016 225670 chr11 34140012 34140012 G A rs902319331 NAT10 Nonsynonymous SNV V176M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 225671 chr2 10929894 10929894 G A rs781237247 PDIA6 Nonsynonymous SNV P274L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 225672 chr11 35232984 35232984 C T rs771978269 CD44 Nonsynonymous SNV R287C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 225673 chr19 9407258 9407258 G A rs549200814 ZNF699 Synonymous SNV I274I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.626 225674 chr19 9868684 9868684 C G rs139394148 ZNF846 Nonsynonymous SNV V228L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.24 225675 chr19 9868960 9868960 G T rs182871540 ZNF846 Nonsynonymous SNV Q136K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.327 225676 chr19 9965095 9965095 C T OLFM2 Nonsynonymous SNV G300S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 225677 chr14 102482799 102482799 G C DYNC1H1 Synonymous SNV A2529A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.94 225678 chr11 134029880 134029882 CTT - rs775691439 NCAPD3 K1120del 0 0 0 1 0 0 0.003 0 0 0 0 0 225679 chr11 45924677 45924677 C T rs143593836 MAPK8IP1 Synonymous SNV D453D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.78 225680 chr19 10403335 10403335 G C ICAM5 Nonsynonymous SNV G337R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 225681 chr11 46722980 46722980 A G rs200793954 ZNF408 Synonymous SNV G20G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Likely benign 9.529 225682 chr12 313949 313949 C T LOC101929384 0 0 0 1 0 0 0.003 0 0 0 0 0 4.318 225683 chr19 10472535 10472535 C T rs765740248 TYK2 Nonsynonymous SNV E624K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.55 225684 chr19 17362479 17362479 G A rs139642055 USHBP1 Nonsynonymous SNV R548C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 225685 chr11 47256184 47256184 C T rs530983301 DDB2 Synonymous SNV N221N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 225686 chr15 101438380 101438380 G A rs143278553 ALDH1A3 Synonymous SNV A184A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.596 225687 chr15 101605775 101605775 G A rs527932063 LRRK1 Synonymous SNV P1711P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 225688 chr12 2943982 2943982 C T rs748481351 NRIP2 Synonymous SNV E56E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.99 225689 chr19 17766107 17766107 G A rs201914744 UNC13A Synonymous SNV N456N 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 12.44 225690 chr12 4702261 4702261 A G rs71579238 DYRK4 Nonsynonymous SNV K71R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.23 225691 chr2 128335737 128335737 C T rs369461546 MYO7B Synonymous SNV N293N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 225692 chr2 128934411 128934411 C T rs147951041 UGGT1 Nonsynonymous SNV P1188L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 23 225693 chr15 25334792 25334792 A G rs908829780 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 4.362 225694 chr2 131103254 131103254 G A rs146322628 IMP4 Nonsynonymous SNV E56K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 225695 chr11 65034103 65034103 G A rs748575286 POLA2 Nonsynonymous SNV E44K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 225696 chr2 235951001 235951001 G A rs114242502 SH3BP4 Nonsynonymous SNV V530I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 225697 chr11 65562067 65562067 C T OVOL1 Nonsynonymous SNV A126V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 225698 chr15 33895325 33895325 A G rs146818373 RYR3 Nonsynonymous SNV I642V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.523 225699 chr15 34130851 34130851 A G RYR3 Nonsynonymous SNV K4219E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 225700 chr19 19655637 19655637 G A CILP2 Synonymous SNV T761T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.935 225701 chr2 136566899 136566899 G T LCT Synonymous SNV G1006G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 225702 chr15 40616436 40616436 C T rs528292519 INAFM2 Synonymous SNV I60I 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 14.51 225703 chr2 152507246 152507246 A T NEB Nonsynonymous SNV F2357I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 225704 chr15 41060221 41060221 T C rs140603715 DNAJC17 Nonsynonymous SNV M278V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.95 225705 chr15 42143532 42143532 G C SPTBN5 Nonsynonymous SNV N3564K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 225706 chr2 159488295 159488295 G C rs756428523 PKP4 Nonsynonymous SNV S395T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 225707 chr15 42691799 42691799 G A rs149914792 CAPN3 Nonsynonymous SNV E387K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 225708 chr15 44067979 44067979 T C ELL3 Nonsynonymous SNV N142D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 225709 chr2 24432037 24432037 A G ITSN2 Synonymous SNV D1469D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.695 225710 chr14 89338706 89338706 C T TTC8 Synonymous SNV C379C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.38 225711 chr11 73715572 73715572 G A rs765857744 UCP3 Synonymous SNV Y200Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.318 225712 chr14 91369252 91369252 C T rs909143652 RPS6KA5 Nonsynonymous SNV R121Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 225713 chr2 163302915 163302915 T C KCNH7 Synonymous SNV K382K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.939 225714 chr14 92470090 92470090 C T rs764610205 TRIP11 Synonymous SNV K1409K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.82 225715 chr14 92548662 92548662 T G rs760721207 ATXN3 Nonsynonymous SNV I132L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 225716 chr12 12966323 12966323 G T rs577622688 DDX47 Nonsynonymous SNV D8Y 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 225717 chr19 17838150 17838150 C T rs201969652 MAP1S Nonsynonymous SNV R627W 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 26.9 225718 chr11 75718588 75718588 T G UVRAG Nonsynonymous SNV L308V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 225719 chr11 76892485 76892485 C T rs78072361 MYO7A Synonymous SNV A918A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.59 225720 chr15 58001361 58001361 T G GCOM1, POLR2M Nonsynonymous SNV F188C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.7 225721 chr11 76924066 76924066 G A rs1132036 MYO7A Nonsynonymous SNV D2142N 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign/Likely benign 25.4 225722 chr11 78601032 78601032 C T rs757948808 TENM4 Synonymous SNV P294P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 225723 chr11 78602309 78602309 G A rs1056567152 TENM4 Synonymous SNV S274S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.962 225724 chr15 52885842 52885842 T C FAM214A Nonsynonymous SNV H921R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 225725 chr19 36236097 36236097 A - rs760513725 U2AF1L4 Y21Tfs*40 0 0 0 2 0 0 0.005 0 0 0 0 0 225726 chr15 63961744 63961744 G A rs759307643 HERC1 Synonymous SNV N2733N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.401 225727 chr19 36342539 36342539 G A rs148104086 NPHS1 Nonsynonymous SNV R32W 0 0 0 1 0 0 0.003 0 0 0 0 0 28 225728 chr12 26714769 26714769 G A rs762257839 ITPR2 Nonsynonymous SNV R1583C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 225729 chr11 56510750 56510750 G A rs145468151 OR9G4 Nonsynonymous SNV R180C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 225730 chr15 65622078 65622078 G T IGDCC3 Nonsynonymous SNV F661L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 225731 chr15 65622080 65622080 A T IGDCC3 Nonsynonymous SNV F661I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 225732 chr15 56993194 56993194 T C ZNF280D Nonsynonymous SNV I93M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.01 225733 chr2 43452202 43452202 C T rs201479488 ZFP36L2 Synonymous SNV P247P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.512 225734 chr2 179638729 179638729 A T rs748735241 TTN Nonsynonymous SNV M2343K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.34 225735 chr11 58034457 58034457 C T rs140648233 OR10W1 Nonsynonymous SNV V292I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.562 225736 chr15 59465975 59465975 G A rs145459485 MYO1E Synonymous SNV D768D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.8 225737 chr11 58338098 58338098 G A rs150635087 LPXN Nonsynonymous SNV P30L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.775 225738 chr2 46211733 46211733 G C PRKCE Nonsynonymous SNV G246A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 225739 chr15 30025403 30025403 C T rs200912609 TJP1 Nonsynonymous SNV R544H 0 0 0 1 0 0 0.003 0 0 0 0 0 28 225740 chr15 62360067 62360067 G A rs201702097 C2CD4A Synonymous SNV P85P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.69 225741 chr11 59283146 59283146 G C rs139978630 OR4D9 Nonsynonymous SNV C254S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.31 225742 chr19 38102512 38102512 C G rs748473612 ZNF540 Nonsynonymous SNV L79V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 225743 chr15 74908068 74908068 C T CLK3 Synonymous SNV A91A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 225744 chr15 34113729 34113729 A G rs146201205 RYR3 Nonsynonymous SNV M3636V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 4.75 225745 chr15 34118904 34118904 G A rs148918638 RYR3 Synonymous SNV T3727T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 13.9 225746 chr15 75498429 75498429 A G rs746658909 C15orf39 Nonsynonymous SNV M14V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.321 225747 chr2 55098637 55098637 G A rs980872738 EML6 Nonsynonymous SNV V747I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 225748 chr15 38988924 38988924 C T rs11857596 LINC02694 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.294 225749 chr12 48142639 48142639 C T rs370751497 RAPGEF3 Nonsynonymous SNV A331T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 225750 chr15 77906752 77906752 C T rs369817274 LINGO1 Synonymous SNV A499A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 225751 chr11 61277323 61277323 G A rs534398626 LRRC10B Nonsynonymous SNV E285K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 225752 chr11 61286129 61286129 G A rs182109634 SYT7 Synonymous SNV P394P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.61 225753 chr15 41195389 41195389 G A rs147424313 VPS18 Synonymous SNV T924T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 225754 chr12 49416497 49416497 C T rs566674356 KMT2D Nonsynonymous SNV R5405H 0 0 0 1 0 0 0.003 0 0 0 0 0 24 225755 chr15 79748816 79748816 C T rs138495489 MINAR1 Synonymous SNV R109R 0.004 0.003 0.014 0 5 1 0 4 0 0 0 0 0.115 225756 chr15 42042292 42042292 T C MGA Nonsynonymous SNV C1954R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.85 225757 chr12 50188569 50188569 A T NCKAP5L Nonsynonymous SNV F1025Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 225758 chr15 44085810 44085810 C T SERF2 Synonymous SNV P51P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.328 225759 chr15 79291094 79291094 G A rs183064514 RASGRF1 Synonymous SNV N172N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 225760 chr11 65156832 65156832 C T rs371301297 FRMD8 Nonsynonymous SNV A29V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 225761 chr15 89753978 89753978 C T rs759669185 RLBP1 Synonymous SNV T249T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 225762 chr11 65388380 65388380 G A rs758556563 PCNX3 Synonymous SNV P726P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 225763 chr15 52901860 52901860 G A rs190376629 FAM214A Synonymous SNV N424N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.409 225764 chr11 66191399 66191399 C T rs144417328 NPAS4 Synonymous SNV F136F 0.006 0.008 0.007 0 7 3 0 2 0 0 0 0 9.281 225765 chr15 56388802 56388802 T G rs113037899 RFX7 Nonsynonymous SNV Q278P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.11 225766 chr15 93524060 93524060 T C CHD2 Synonymous SNV N964N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.151 225767 chr19 40317483 40317483 A G DYRK1B Nonsynonymous SNV Y414H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 225768 chr12 56563652 56563652 T C rs200758361 SMARCC2 Nonsynonymous SNV E788G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 225769 chr15 62254710 62254710 A T VPS13C Nonsynonymous SNV F1112I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 225770 chr19 45375164 45375164 C T rs41290104 NECTIN2 Nonsynonymous SNV T178M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.61 225771 chr11 70332958 70332958 C T SHANK2 Nonsynonymous SNV S559N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 225772 chr12 57604526 57604526 G A rs145886930 LRP1 Synonymous SNV T4260T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.87 225773 chr15 90169187 90169187 T C rs200586263 TICRR Nonsynonymous SNV C1832R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.335 225774 chr19 46333428 46333428 G A SYMPK Nonsynonymous SNV R545C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 225775 chr12 57910270 57910270 C T rs969642249 MARS1 Nonsynonymous SNV A870V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.8 225776 chr12 58122020 58122020 G A rs373370235 AGAP2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 15.53 225777 chr19 42126023 42126023 C T rs73562925 CEACAM4 Nonsynonymous SNV C230Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.363 225778 chr19 42213687 42213687 G T rs150428325 CEACAM5 Synonymous SNV V51V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.019 225779 chr11 73689114 73689114 G A rs781271646 UCP2 Nonsynonymous SNV R52C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 225780 chr19 42213693 42213693 A C rs10401128 CEACAM5 Synonymous SNV L53L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.002 225781 chr15 90794110 90794110 G A rs147893214 TTLL13P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 225782 chr19 48048227 48048227 C T rs770418590 ZNF541 Nonsynonymous SNV G520D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 225783 chr19 44116474 44116474 G A SRRM5 Synonymous SNV S67S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.4 225784 chr19 44341207 44341207 G A rs370983131 ZNF283 Synonymous SNV G71G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 225785 chr15 96875463 96875463 C G rs551936462 NR2F2 Synonymous SNV P43P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 11.39 225786 chr11 77727890 77727890 C G rs200905200 KCTD14 Nonsynonymous SNV V173L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 225787 chr11 130542972 130542972 G A C11orf44 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 225788 chr16 18844275 18844275 T C SMG1 Nonsynonymous SNV I2927V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 225789 chr19 44636465 44636465 A T rs183264537 ZNF225 Nonsynonymous SNV R566S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.9 225790 chr16 20981271 20981271 G A rs778809328 DNAH3 Synonymous SNV L2721L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.954 225791 chr19 49850475 49850475 G T rs370108099 TEAD2 Nonsynonymous SNV P297H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.71 225792 chr19 45645403 45645403 C T rs754606231 PPP1R37 Nonsynonymous SNV R218C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 225793 chr11 102248286 102248286 C T rs371002487 BIRC2 Nonsynonymous SNV L476F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.84 225794 chr16 23497353 23497353 C T rs200012552 GGA2 Nonsynonymous SNV D261N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.45 225795 chr12 6085397 6085397 A G rs766033386 VWF Synonymous SNV P2439P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 225796 chr19 46271575 46271575 G A rs758183735 SIX5 Synonymous SNV R176R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 225797 chr16 709249 709249 G A rs540827916 WDR90 Synonymous SNV P1019P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.444 225798 chr16 2505453 2505453 G A rs118173479 CCNF Synonymous SNV A283A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 14.3 225799 chr15 85188990 85188990 G A rs373323041 WDR73 Nonsynonymous SNV R199W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 225800 chr16 25268263 25268263 A G ZKSCAN2 Synonymous SNV A62A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.557 225801 chr1 19420624 19420624 G A UBR4 Nonsynonymous SNV L4586F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 225802 chr12 7022036 7022036 C T rs782789545 LRRC23 Nonsynonymous SNV R301C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 225803 chr16 1268428 1268428 C T rs761380706 CACNA1H Synonymous SNV P1882P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.21 225804 chr19 51410199 51410199 C T rs142492326 KLK4 Synonymous SNV Q157Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.562 225805 chr11 111896463 111896463 C A rs782078082 DLAT Nonsynonymous SNV P76T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 225806 chr16 30530026 30530026 G A rs201206480 ITGAL Nonsynonymous SNV A988T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 225807 chr11 113210133 113210133 C A rs782759058 TTC12 Nonsynonymous SNV P230T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 225808 chr16 1859291 1859291 - TGAA rs745599124 HAGH Frameshift insertion R307Lfs*16 0.001 0.003 0 0 1 1 0 0 0 0 0 0 225809 chr16 1859293 1859293 - TGCAGGGC rs758429568 HAGH Frameshift insertion R307Pfs*22 0.001 0.003 0 0 1 1 0 0 0 0 0 0 225810 chr12 110230491 110230491 T - TRPV4 K490Sfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 225811 chr12 110465553 110465553 C T rs750162015 ANKRD13A Synonymous SNV H309H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.47 225812 chr2 241828000 241828000 G A rs575863945 MAB21L4 Synonymous SNV A320A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.27 225813 chr16 336854 336854 C G rs138762531 PDIA2 Nonsynonymous SNV T481S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.84 225814 chr11 117351929 117351929 C T rs779344457 DSCAML1 Synonymous SNV S872S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 225815 chr16 2369708 2369708 C T rs139952718 ABCA3 Synonymous SNV P249P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.78 225816 chr16 3830813 3830813 A C rs117115765 CREBBP Synonymous SNV A543A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.712 225817 chr16 3117564 3117564 A G IL32 Nonsynonymous SNV I22V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 225818 chr16 4432677 4432677 G A rs766817153 VASN Nonsynonymous SNV R600Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 225819 chr19 53304062 53304062 T C ZNF28 Nonsynonymous SNV T293A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.402 225820 chr16 4751059 4751059 T C ANKS3 Nonsynonymous SNV Q226R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 225821 chr16 49669620 49669620 G A rs756742718 ZNF423 Nonsynonymous SNV P1031L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 225822 chr16 4384933 4384933 G A rs148123444 GLIS2 Synonymous SNV S159S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.23 225823 chr16 53652968 53652968 A G RPGRIP1L Synonymous SNV S1115S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 225824 chr16 1268272 1268272 G A rs751254263 CACNA1H Synonymous SNV S1830S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.29 225825 chr16 5046977 5046977 T A SEC14L5 Nonsynonymous SNV L301H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 225826 chr16 5127481 5127481 A G rs760563077 ALG1 Nonsynonymous SNV N81S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.38 225827 chr12 22028635 22028635 C T rs752106985 ABCC9 Nonsynonymous SNV G682D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.35 225828 chr3 148601470 148601470 G A rs200538548 CPA3 Synonymous SNV T283T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.75 225829 chr2 29240721 29240721 G A rs752298206 TOGARAM2 Nonsynonymous SNV R420K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 225830 chr16 58051246 58051246 T C rs149725439 USB1 Nonsynonymous SNV I153T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.8 225831 chr16 1841558 1841558 G A rs750405773 IGFALS Synonymous SNV P325P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.557 225832 chr16 618266 618266 C T rs183189301 NHLRC4 Synonymous SNV T73T 0.003 0 0.01 0 3 0 0 3 0 0 0 0 6.487 225833 chr16 16276419 16276419 C A rs72653784 ABCC6 Nonsynonymous SNV E699D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 26.1 225834 chr11 125769278 125769278 A C rs759153895 HYLS1 Synonymous SNV L5L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.053 225835 chr16 16291932 16291932 G A rs57499497 ABCC6 Synonymous SNV N428N 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 8.181 225836 chr19 55570547 55570547 G A rs189747727 RDH13 Synonymous SNV T54T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.881 225837 chr16 20043506 20043506 T C rs145592899 GPR139 Nonsynonymous SNV I205V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.104 225838 chr16 18866165 18866165 A G rs751008447 SMG1 Synonymous SNV A1432A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.392 225839 chr16 67840259 67840259 C T rs765329984 RANBP10 Nonsynonymous SNV D61N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 225840 chr11 130066523 130066523 C T rs139564261 ST14 Nonsynonymous SNV R428C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 225841 chr16 21128601 21128601 G A rs149569077 DNAH3 Synonymous SNV N519N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.9 225842 chr13 21965954 21965954 A G rs376389545 ZDHHC20 Nonsynonymous SNV F149L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 225843 chr16 21739566 21739566 A T rs930322780 OTOA Nonsynonymous SNV D350V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.639 225844 chr16 2260579 2260584 CCAGCA - rs755475248 BRICD5 V40_L41del 0 0 0 1 0 0 0.003 0 0 0 0 0 225845 chr16 23646256 23646256 C T rs730881874 PALB2 Synonymous SNV S537S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.58 225846 chr16 2287062 2287062 G T rs745395268 DNASE1L2 Synonymous SNV A56A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.856 225847 chr2 47693833 47693833 G T rs373564353 MSH2 Nonsynonymous SNV S516I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 225848 chr16 72993143 72993143 G A rs375991410 ZFHX3 Nonsynonymous SNV A301V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 225849 chr19 54760363 54760363 A G rs916560501 LILRB5 Nonsynonymous SNV L115P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 225850 chr12 2968181 2968181 G A rs139471742 FOXM1 Nonsynonymous SNV P624S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 225851 chr12 49308342 49308342 G A rs145100370 CCDC65 Synonymous SNV E9E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.51 225852 chr16 29756123 29756123 A - rs746268461 C16orf54 V51Cfs*53 0 0.003 0 0 0 1 0 0 0 0 0 0 225853 chr2 55407792 55407792 G A rs76870665 CLHC1 Nonsynonymous SNV T207I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.69 225854 chr16 75600790 75600790 T C rs748287599 GABARAPL2 Synonymous SNV Y25Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.598 225855 chr12 49418453 49418453 G A KMT2D Synonymous SNV R5320R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 225856 chr16 29818721 29818721 C T rs750668378 MAZ Synonymous SNV L205L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.55 225857 chr16 28332098 28332098 G T SBK1 Synonymous SNV V377V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.636 225858 chr16 30793743 30793743 C A rs368493135 ZNF629 Nonsynonymous SNV A636S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 225859 chr13 37622053 37622053 T C rs138150803 SUPT20H Synonymous SNV R20R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.484 225860 chr16 29676099 29676099 G A SPN Synonymous SNV K350K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.73 225861 chr13 39588144 39588146 AGC - rs568365521 PROSER1 A393del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 225862 chr16 3021328 3021328 G A rs148564217 PAQR4 Nonsynonymous SNV A74T 0.001 0.005 0.003 3 1 2 0.008 1 0 0 0 0 14.01 225863 chr16 30621178 30621178 T C ZNF689 Nonsynonymous SNV Y62C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 225864 chr16 30736357 30736357 G A rs375163006 SRCAP Nonsynonymous SNV R1871Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 225865 chr16 83999000 83999000 C T rs3743627 OSGIN1 Synonymous SNV A274A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.694 225866 chr16 310024 310024 C A FAM234A Nonsynonymous SNV L148I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 225867 chr12 52708447 52708447 C T KRT83 Nonsynonymous SNV G484R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.38 225868 chr13 46170801 46170801 C A ERICH6B Stop gain E114X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 225869 chr16 50346043 50346043 C T rs370441901 ADCY7 Synonymous SNV L849L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.72 225870 chr13 46802123 46802123 A T rs747306147 LRRC63 Nonsynonymous SNV T188S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 225871 chr12 7984270 7984270 C G SLC2A14 Nonsynonymous SNV V106L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 225872 chr12 52962081 52962081 G A rs200004454 KRT74 Synonymous SNV G409G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.77 225873 chr13 49281084 49281084 T C rs199810059 CYSLTR2 Nonsynonymous SNV V44A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.055 225874 chr2 73679117 73679117 G A rs62151609 ALMS1 Synonymous SNV P1820P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 6.469 225875 chr12 9321534 9321534 G A rs145240281 PZP Stop gain R680X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 32 225876 chr16 3646180 3646180 C A rs1056085 SLX4 Nonsynonymous SNV G633V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.61 225877 chr2 75882355 75882355 A G rs368495602 MRPL19 Nonsynonymous SNV T275A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 225878 chr16 4408063 4408063 C T rs144324307 CORO7, CORO7-PAM16 Synonymous SNV V748V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.73 225879 chr2 84885549 84885549 G A rs775426128 DNAH6 Nonsynonymous SNV C1964Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.219 225880 chr16 58437167 58437167 G A rs148150477 GINS3 Nonsynonymous SNV G118R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 225881 chr3 195595023 195595023 C T rs374499086 TNK2 Nonsynonymous SNV A733T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.08 225882 chr16 8890441 8890441 G C rs756617926 TMEM186 Nonsynonymous SNV L4V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.833 225883 chr12 12815227 12815227 G A rs146829075 GPR19 Synonymous SNV N52N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 225884 chr16 67469873 67469873 C T rs199824469 HSD11B2 Synonymous SNV L164L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.33 225885 chr12 56811767 56811767 C T rs140801238 TIMELESS Synonymous SNV P1159P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 225886 chr16 89661898 89661898 G A rs747107157 CPNE7 Nonsynonymous SNV D476N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 225887 chr12 57389730 57389730 G A rs150488600 GPR182 Nonsynonymous SNV R246Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 225888 chr12 58016890 58016890 T G rs112603554 SLC26A10 Nonsynonymous SNV N341K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.16 225889 chr3 101483697 101483697 T A CEP97 Nonsynonymous SNV S575T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 225890 chr19 9047860 9047860 A G rs145529785 MUC16 Synonymous SNV T11257T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.588 225891 chr13 113055415 113055415 C A rs370648687 SPACA7 Nonsynonymous SNV P128T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.002 225892 chr17 1651988 1651988 G A rs144824741 SERPINF2 Nonsynonymous SNV R207H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.863 225893 chr13 113181777 113181777 T C rs774085606 TUBGCP3 Nonsynonymous SNV T443A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.468 225894 chr3 110830900 110830900 G C rs776675701 NECTIN3 Nonsynonymous SNV V62L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 225895 chr12 40714863 40714863 G A LRRK2 Synonymous SNV E1681E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.708 225896 chr13 114062471 114062473 TCT - rs767297377 LOC101928841 K11del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 225897 chr17 17788003 17788003 A G rs143220830 TOM1L2 Nonsynonymous SNV V99A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.7 225898 chr17 18051447 18051447 C T rs121908970 MYO15A Nonsynonymous SNV T2205I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign/Likely benign 23.9 225899 chr14 20470450 20470450 C T OR4Q2 Synonymous SNV V43V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.518 225900 chr12 48393847 48393847 C T rs372734539 COL2A1 Synonymous SNV P49P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.67 225901 chr16 69402280 69402280 T G rs770848904 TERF2 Synonymous SNV R316R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.833 225902 chr17 18775914 18775914 A G PRPSAP2 Nonsynonymous SNV Q64R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 225903 chr19 9086962 9086962 A G rs200321292 MUC16 Nonsynonymous SNV I1618T 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.003 225904 chr3 113955562 113955562 G A ZNF80 Synonymous SNV L120L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.515 225905 chr19 9727837 9727837 G A rs200486363 ZNF561 Nonsynonymous SNV T42M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 225906 chr3 121409817 121409817 G A rs114935750 GOLGB1 Synonymous SNV N2718N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.004 225907 chr16 777991 777991 G A rs550469644 HAGHL Synonymous SNV G44G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.823 225908 chr12 102117585 102117585 A C CHPT1 Nonsynonymous SNV N342T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 225909 chr17 2318585 2318585 A G rs866247786 LOC284009 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 225910 chr20 11871548 11871548 C T rs983572552 BTBD3 Nonsynonymous SNV H45Y 0 0 0 1 0 0 0.003 0 0 0 0 0 16.96 225911 chr12 106838295 106838295 A G rs1036941093 POLR3B Synonymous SNV G612G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.098 225912 chr17 27442028 27442028 C T rs774435895 MYO18A Nonsynonymous SNV R803H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 225913 chr17 27998991 27998991 C T rs144011077 SSH2 Synonymous SNV Q230Q 0 0 0.007 0 0 0 0 2 0 0 0 0 13.76 225914 chr12 53186123 53186123 C T rs200973641 KRT3 Nonsynonymous SNV R363H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 225915 chr12 53292721 53292721 T C rs747012754 MIR9898 0.001 0 0 0 1 0 0 0 0 0 0 0 1.389 225916 chr3 49898156 49898156 C T rs147195969 CAMKV Synonymous SNV S256S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 225917 chr16 90106735 90106735 C T rs138104460 GAS8 Nonsynonymous SNV R155W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 225918 chr3 50375594 50375594 C T rs1019569278 RASSF1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.332 225919 chr12 113830892 113830892 C T SDS Nonsynonymous SNV V281M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 225920 chr17 916363 916363 G A rs147397030 ABR Synonymous SNV D62D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 12.26 225921 chr16 84691055 84691055 C T rs749852695 KLHL36 Synonymous SNV A214A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.83 225922 chr3 52360901 52360901 A G rs374941590 DNAH1 Synonymous SNV P244P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.327 225923 chr17 1412473 1412473 C A INPP5K Nonsynonymous SNV D185Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 225924 chr12 55759252 55759252 C T rs199828790 OR6C75 Nonsynonymous SNV R120C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 225925 chr12 119942920 119942920 C T CCDC60 Nonsynonymous SNV P232L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.604 225926 chr3 129293190 129293190 C A PLXND1 Stop gain E892X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 225927 chr17 1680696 1680696 G A rs765381919 SERPINF1 Nonsynonymous SNV A218T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 225928 chr14 38091566 38091566 - C rs757273931 TTC6 Frameshift insertion S117Lfs*5 0 0.003 0 1 0 1 0.003 0 0 0 0 0 225929 chr17 36002284 36002284 G A DDX52 Synonymous SNV D47D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.53 225930 chr17 36962561 36962561 G A rs367631531 CWC25 Synonymous SNV P330P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.499 225931 chr12 58131013 58131013 A C AGAP2 Synonymous SNV T339T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 225932 chr12 122724479 122724479 A G rs769294029 VPS33A Synonymous SNV F263F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 225933 chr12 123262166 123262166 T C CCDC62 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.914 225934 chr16 88870996 88870996 G A CDT1 Nonsynonymous SNV C91Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 225935 chr17 38320198 38320198 C T CASC3 Nonsynonymous SNV A417V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 225936 chr17 38420957 38420957 C T rs760392805 WIPF2 Nonsynonymous SNV P177S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 225937 chr17 38641215 38641215 T C TNS4 Nonsynonymous SNV T445A 0 0 0.003 0 0 0 0 1 0 0 0 0 27 225938 chr12 124393827 124393827 A G rs61747398 DNAH10 Nonsynonymous SNV K3161E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 16.73 225939 chr17 3783647 3783647 G A rs754737840 CAMKK1 Synonymous SNV L263L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.331 225940 chr12 69652848 69652848 T C rs144639212 CPSF6 Synonymous SNV D391D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 225941 chr17 4495663 4495663 A G rs187632995 SMTNL2 Nonsynonymous SNV D136G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 225942 chr20 44574459 44574459 C T rs41450546 PCIF1 Synonymous SNV N426N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.42 225943 chr20 44577991 44577991 G T rs113958814 ZNF335 Nonsynonymous SNV P1267Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.09 225944 chr3 141011611 141011611 G A rs115260575 PXYLP1 Nonsynonymous SNV R336Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.69 225945 chr20 44578991 44578991 G A rs35156034 ZNF335 Synonymous SNV L1118L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 1.456 225946 chr12 130184707 130184707 G A rs777453627 TMEM132D Nonsynonymous SNV P206S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 225947 chr3 7494419 7494419 C A rs201868190 GRM7 Synonymous SNV R434R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 225948 chr17 10401968 10401968 G A rs142884848 MYH1 Nonsynonymous SNV R1386C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 225949 chr17 10408244 10408244 T C rs200087261 MYH1 Synonymous SNV E858E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.015 225950 chr17 39334354 39334354 G A rs769189730 KRTAP4-2 Synonymous SNV C21C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.429 225951 chr17 39458256 39458256 T A rs140240190 KRTAP29-1 Nonsynonymous SNV D283V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.533 225952 chr20 48522949 48522949 T C rs145229601 SPATA2 Nonsynonymous SNV Y257C 0.002 0 0 5 2 0 0.013 0 0 0 0 0 24.9 225953 chr1 152081907 152081907 T C rs200662790 TCHH Synonymous SNV Q1262Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.486 225954 chr1 152573404 152573404 G A rs776195902 LCE3C Nonsynonymous SNV R66Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.21 225955 chr17 3977477 3977477 C A ZZEF1 Nonsynonymous SNV A1218S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 225956 chr1 153517196 153517196 G T rs377093845 S100A4 Nonsynonymous SNV D25E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.1 225957 chr17 7662339 7662339 G A rs199628665 DNAH2 Nonsynonymous SNV R782K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.796 225958 chr1 153914789 153914789 C T rs370937665 DENND4B Synonymous SNV P239P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 225959 chr17 40061887 40061887 A G rs111680156 ACLY Synonymous SNV G297G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.8 225960 chr3 16237412 16237412 G A rs367893487 GALNT15 Nonsynonymous SNV V229M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 225961 chr3 16242126 16242126 G A rs200118171 GALNT15 Nonsynonymous SNV G236E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 225962 chr17 17769677 17769677 G A rs138437093 TOM1L2 Synonymous SNV A191A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.17 225963 chr12 104480635 104480635 G A rs149047078 HCFC2 Synonymous SNV P358P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.66 225964 chr1 154960854 154960854 G A rs766539386 FLAD1 Nonsynonymous SNV G216S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 225965 chr3 16411667 16411667 C T rs773514487 RFTN1 Nonsynonymous SNV A316T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 225966 chr4 107092292 107092292 T C rs769788093 TBCK Nonsynonymous SNV Y669C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.72 225967 chr17 18133277 18133277 A C rs115967277 LLGL1 Nonsynonymous SNV N35T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 225968 chr17 18220216 18220216 C T rs368357417 SMCR8 Synonymous SNV L371L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.444 225969 chr17 18220794 18220794 C T rs754488042 SMCR8 Nonsynonymous SNV P564L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 225970 chr17 45473344 45473347 GTGA - rs144853553 EFCAB13 0.001 0 0.007 0 1 0 0 2 0 0 0 0 225971 chr17 45916018 45916018 C G rs35901087 SCRN2 Nonsynonymous SNV E273Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.6 225972 chr17 46054090 46054090 G A rs140552517 CDK5RAP3 Nonsynonymous SNV D46N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.8 225973 chr17 12663850 12663850 A - rs981011356 LOC100128006 0 0.003 0 0 0 1 0 0 0 0 0 0 225974 chr13 45563531 45563531 C G rs201371338 NUFIP1 Nonsynonymous SNV W14S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 225975 chr12 118474238 118474238 G A rs34253698 WSB2 Synonymous SNV D36D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.94 225976 chr13 46717459 46717459 G A rs199851535 LCP1 Nonsynonymous SNV P445L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 225977 chr4 126371285 126371285 G A rs749702080 FAT4 Synonymous SNV T3040T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 225978 chr17 17770220 17770220 A T rs143182667 TOM1L2 Synonymous SNV S162S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.747 225979 chr17 48618367 48618367 T C EPN3 Nonsynonymous SNV L398P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 225980 chr17 18034553 18034553 A T rs375627187 MYO15A Nonsynonymous SNV I1347F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 225981 chr13 67800119 67800119 G A rs758464613 PCDH9 Synonymous SNV A818A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.03 225982 chr1 159557968 159557968 C A rs377010258 APCS Nonsynonymous SNV P48T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.03 225983 chr17 55058514 55058514 T C rs758070431 SCPEP1 Nonsynonymous SNV Y50H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 225984 chr13 79190169 79190169 A G rs370212589 OBI1 Nonsynonymous SNV F576S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 225985 chr17 32964860 32964860 G A TMEM132E Nonsynonymous SNV R945Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 225986 chr1 16203160 16203160 A G rs750222661 SPEN Nonsynonymous SNV T290A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 225987 chr17 59958444 59958444 T G INTS2 Synonymous SNV T726T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 225988 chr17 34934451 34934451 A G GGNBP2 Nonsynonymous SNV Y227C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 225989 chr17 3524661 3524661 G A rs780851286 SHPK Synonymous SNV A231A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.176 225990 chr17 65554 65554 G A rs370733508 RPH3AL Nonsynonymous SNV P227L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 225991 chr12 133294587 133294587 C T rs141928187 PGAM5 Synonymous SNV D200D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 225992 chr13 113814472 113814472 T C rs375694607 PROZ Nonsynonymous SNV F72S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 225993 chr4 170077770 170077770 C G rs144629121 SH3RF1 Nonsynonymous SNV D152H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 225994 chr3 32737239 32737239 C T rs192382813 CNOT10 Nonsynonymous SNV S41L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 225995 chr13 114531587 114531587 C T rs113292330 GAS6 Nonsynonymous SNV R414Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 225996 chr14 105353012 105353012 G A rs200246088 CEP170B Synonymous SNV P742P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.722 225997 chr14 105353560 105353560 C T rs373595600 CEP170B Nonsynonymous SNV P925L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.155 225998 chr3 36527654 36527654 C T rs376429894 STAC Synonymous SNV Y139Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.4 225999 chr17 35804812 35804812 T C rs144064854 TADA2A Synonymous SNV Y182Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.137 226000 chr17 7219552 7219552 C T rs201366443 NEURL4 Nonsynonymous SNV A1525T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 226001 chr17 7230305 7230305 C T rs1014554443 NEURL4 Nonsynonymous SNV E273K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 226002 chr4 178274825 178274825 A G rs758844897 NEIL3 Nonsynonymous SNV K468R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 226003 chr14 20872036 20872036 G A TEP1 Nonsynonymous SNV A347V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.59 226004 chr17 72519003 72519003 G A rs115195000 CD300LB Synonymous SNV P160P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.928 226005 chr17 72846500 72846500 C T rs61754645 GRIN2C Nonsynonymous SNV V446M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.908 226006 chr17 38711777 38711777 C T rs199621619 CCR7 Synonymous SNV A55A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.44 226007 chr17 38990975 38990975 C G TMEM99 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.659 226008 chr15 33446626 33446626 C T FMN1 Nonsynonymous SNV G164R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.392 226009 chr13 31338169 31338169 T C ALOX5AP Nonsynonymous SNV F138L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 226010 chr15 40591091 40591091 C T rs748125161 PLCB2 Nonsynonymous SNV R253Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 226011 chr13 39264077 39264077 T A rs566743573 FREM2 Nonsynonymous SNV F866I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 226012 chr17 74878246 74878246 C T rs747200948 MGAT5B Synonymous SNV P76P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 226013 chr4 3445858 3445858 C T rs140416920 HGFAC Nonsynonymous SNV R190W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.2 226014 chr15 41827828 41827828 C T rs150107533 RPAP1 Synonymous SNV G141G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.397 226015 chr4 3519881 3519881 C T rs111244551 LRPAP1 Nonsynonymous SNV D211N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 8.71 226016 chr17 39919377 39919377 G A rs781888888 JUP Nonsynonymous SNV T452M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.2 226017 chr17 40315939 40315939 G A rs746028334 KCNH4 Nonsynonymous SNV T721M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 226018 chr13 50204976 50204976 G A rs751003114 ARL11 Synonymous SNV P131P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.871 226019 chr17 40716004 40716004 A G COASY Synonymous SNV Q242Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.38 226020 chr15 42602646 42602646 A G rs764152973 GANC Synonymous SNV T296T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.371 226021 chr1 193045639 193045639 G A rs35085540 RO60 Synonymous SNV K270K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.06 226022 chr17 7759107 7759107 T C rs767397663 TMEM88 Nonsynonymous SNV F77L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 226023 chr13 53049113 53049113 G A rs73186408 CKAP2 Nonsynonymous SNV R630H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 226024 chr17 78041305 78041305 G A rs185948937 CCDC40 Nonsynonymous SNV V522M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.242 226025 chr17 78261835 78261835 C T rs142022751 RNF213 Synonymous SNV D161D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.261 226026 chr3 47917234 47917234 G A rs368502026 MAP4 Nonsynonymous SNV R755C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 226027 chr17 78308030 78308030 G T RNF213 Synonymous SNV L1423L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.791 226028 chr4 438106 438106 C T ZNF721 Synonymous SNV R50R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.249 226029 chr17 79203269 79203269 C G TEPSIN Nonsynonymous SNV R346T 0 0 0.003 0 0 0 0 1 0 0 0 0 29 226030 chr4 48567693 48567695 CTT - FRYL R1061del 0.001 0 0 0 1 0 0 0 0 0 0 0 226031 chr14 57686119 57686119 A G EXOC5 Synonymous SNV L483L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.269 226032 chr13 103410912 103410912 G A rs548678555 CCDC168 Synonymous SNV C82C 0.002 0 0 0 2 0 0 0 0 0 0 0 2.664 226033 chr13 106142238 106142238 A T DAOA Synonymous SNV G62G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.42 226034 chr4 57220907 57220907 A G rs139646993 AASDH Nonsynonymous SNV F292L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 226035 chr13 107822875 107822875 C T rs372171261 FAM155A Synonymous SNV T449T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 226036 chr17 48649967 48649967 A G CACNA1G Nonsynonymous SNV S267G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.3 226037 chr17 48673943 48673943 A C rs201323872 CACNA1G Nonsynonymous SNV E977D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.158 226038 chr14 62242928 62242928 A G rs768466872 SNAPC1 Nonsynonymous SNV K217R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 226039 chr13 111340102 111340102 G A rs142925085 CARS2 Synonymous SNV I179I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.512 226040 chr14 63174364 63174364 C T rs761472576 KCNH5 Synonymous SNV S943S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.102 226041 chr15 63541886 63541886 G A rs369208515 RAB8B Synonymous SNV A76A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.941 226042 chr13 114058457 114058466 CCCGAGCCCG - LOC101928841 R1347Nfs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 226043 chr13 114058469 114058566 CCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCC - LOC101928841 E1314Afs*113 0.001 0 0 0 1 0 0 0 0 0 0 0 226044 chr3 53140860 53140860 C A rs745687063 RFT1 Nonsynonymous SNV L267F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.958 226045 chr13 115002172 115002172 G T CDC16 Nonsynonymous SNV R34L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 226046 chr13 115047168 115047168 G A rs781035257 UPF3A Synonymous SNV R18R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.643 226047 chr15 66249922 66249922 C G MEGF11 Nonsynonymous SNV S417T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 226048 chr14 69259693 69259693 G A rs756991101 ZFP36L1 Nonsynonymous SNV T57I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.48 226049 chr17 56293496 56293496 G A rs990955357 MKS1 Stop gain R114X 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 37 226050 chr3 58555536 58555536 G A rs754770704 FAM107A Nonsynonymous SNV R18W 0.003 0 0 0 4 0 0 0 0 0 0 0 25.2 226051 chr18 21123523 21123523 C T rs375047023 NPC1 Nonsynonymous SNV R714H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 226052 chr14 74189442 74189442 C T rs35905570 ELMSAN1 Nonsynonymous SNV D895N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 226053 chr15 71953030 71953030 G A rs116382768 THSD4 Synonymous SNV T78T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.32 226054 chr1 2124346 2124348 TTG - rs752983330 FAAP20 N179del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 226055 chr17 65050147 65050147 G A rs371843031 CACNG1 Nonsynonymous SNV G89S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 226056 chr14 75264474 75264474 G T YLPM1 Nonsynonymous SNV S825I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 226057 chr3 78663873 78663873 C A rs200590399 ROBO1 Nonsynonymous SNV V1354L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.521 226058 chr15 72690747 72690747 G C rs78142209 TMEM202 Nonsynonymous SNV R27T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 226059 chr14 75505050 75505050 G A rs571755678 MLH3 Synonymous SNV G1212G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.53 226060 chr3 87017755 87017755 C T rs183228630 VGLL3 Nonsynonymous SNV V308M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 226061 chr17 67101651 67101651 G C ABCA6 Nonsynonymous SNV Q898E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 226062 chr3 97664177 97664177 G C rs150618232 RIOX2 Nonsynonymous SNV L417V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 226063 chr18 33793436 33793436 G A rs147875201 MOCOS Synonymous SNV K442K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.4 226064 chr3 98001979 98001979 C A rs772669828 OR5H2 Nonsynonymous SNV T83N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 226065 chr3 98251733 98251733 G A rs756664994 GPR15 Nonsynonymous SNV V286M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.8 226066 chr14 77896069 77896069 G A rs886044709 VIPAS39 Synonymous SNV F358F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.1 226067 chr17 65214911 65214911 T C rs374183389 HELZ Nonsynonymous SNV R4G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 226068 chr18 45371779 45371779 G A rs540561939 SMAD2 Synonymous SNV A374A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 226069 chr15 77906984 77906984 C A LINGO1 Nonsynonymous SNV R422L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.3 226070 chr17 66982461 66982461 A G rs750355412 ABCA9 Nonsynonymous SNV I1351T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.426 226071 chr14 24108488 24108488 C G rs780425610 DHRS2 Nonsynonymous SNV Q81E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.106 226072 chr1 222721242 222721242 C T rs753750432 HHIPL2 Nonsynonymous SNV G49R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.981 226073 chr18 56615347 56615347 C T rs148831961 ZNF532 Synonymous SNV T859T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 226074 chr15 83796156 83796156 T C TM6SF1 Nonsynonymous SNV L84P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.5 226075 chr14 24884816 24884816 C T rs566510965 NYNRIN Synonymous SNV P1287P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.885 226076 chr18 60017049 60017049 G T rs758952741 TNFRSF11A Nonsynonymous SNV K54N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 226077 chr14 95236192 95236192 T G rs755567297 GSC Nonsynonymous SNV Y54S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 226078 chr18 60639900 60639900 C T PHLPP1 Synonymous SNV N1238N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 226079 chr17 74721680 74721680 G A rs375672370 JMJD6 Synonymous SNV P129P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.897 226080 chr4 1161396 1161396 C G SPON2 Nonsynonymous SNV G287A 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 226081 chr14 38061910 38061910 A C rs763040361 FOXA1 Nonsynonymous SNV S27A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 226082 chr14 102973756 102973756 C T ANKRD9 Synonymous SNV E157E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 226083 chr17 73143679 73143679 G C rs148356595 JPT1 Nonsynonymous SNV A90G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.52 226084 chr4 126240089 126240089 C T FAT4 Synonymous SNV I841I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.57 226085 chr17 73240757 73240757 A G rs201931442 GGA3 Synonymous SNV H9H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.084 226086 chr4 126320006 126320006 C T rs202038981 FAT4 Nonsynonymous SNV T1748M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.1 226087 chr5 112043533 112043533 G C rs587778028 APC Nonsynonymous SNV S40T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.644 226088 chr15 91020449 91020449 C A rs371671746 IQGAP1 Nonsynonymous SNV Q1031K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.78 226089 chr1 228565981 228565981 C G OBSCN Synonymous SNV A7863A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.95 226090 chr18 77420796 77420796 C T rs148395735 LOC284241 0 0 0.003 0 0 0 0 1 0 0 0 0 6.951 226091 chr18 77439413 77439413 G A rs149124761 LOC284241 0 0 0.01 0 0 0 0 3 0 0 0 0 6.239 226092 chr18 9887650 9887650 T C rs756348887 TXNDC2 Nonsynonymous SNV S392P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.617 226093 chrX 54014378 54014378 C G PHF8 0.001 0 0 2 1 0 0.005 0 0 0 0 1 22.3 226094 chrX 54473756 54473756 G A rs61734179 FGD1 Synonymous SNV Y856Y 0.001 0 0 2 1 0 0.005 0 0 0 0 1 Benign/Likely benign 8.042 226095 chr4 149357871 149357871 C A rs772759369 NR3C2 Nonsynonymous SNV V48L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 226096 chr14 61278770 61278770 A G rs538246113 MNAT1 Synonymous SNV R162R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.425 226097 chr15 102192482 102192482 G A rs181135440 TM2D3 Nonsynonymous SNV S28L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.23 226098 chr14 61952290 61952290 G A rs746414890 PRKCH Nonsynonymous SNV R450H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 226099 chr19 10363119 10363119 C T rs200851671 MRPL4 Nonsynonymous SNV P35L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 226100 chr17 74673774 74673774 C T rs147040032 MXRA7 Nonsynonymous SNV E171K 0 0 0 1 0 0 0.003 0 0 0 0 0 35 226101 chr14 64483304 64483304 C T rs148564084 SYNE2 Synonymous SNV P1614P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.49 226102 chrX 76937624 76937624 C T rs782633384 ATRX Nonsynonymous SNV G1004R 0 0 0 2 0 0 0.005 0 0 0 0 1 3.046 226103 chr14 64532250 64532250 G A rs144108695 SYNE2 Nonsynonymous SNV C3438Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.03 226104 chr5 134345156 134345156 G A rs139694304 CATSPER3 Synonymous SNV E304E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.762 226105 chr16 1245062 1245062 C T rs59794024 CACNA1H Synonymous SNV S130S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.86 226106 chr5 135215684 135215684 G A rs577957582 SLC25A48 Nonsynonymous SNV A281T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 226107 chr16 1255206 1255206 C T rs28365123 CACNA1H Synonymous SNV G848G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 10.54 226108 chr14 65268100 65268100 A G rs17102119 SPTB Synonymous SNV F222F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 7.463 226109 chr14 69259641 69259641 G A ZFP36L1 Synonymous SNV L5L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 226110 chr5 138728547 138728547 C T PROB1 Nonsynonymous SNV G742S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 226111 chr16 1706181 1706181 C T rs772810276 CRAMP1 Nonsynonymous SNV R475W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 226112 chr19 11728202 11728202 G A rs766483088 ZNF627 Nonsynonymous SNV R185Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.87 226113 chr17 77093430 77093430 G A rs758656116 RBFOX3 Synonymous SNV A233A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 18.69 226114 chr19 13051246 13051246 C T rs149740908 CALR Nonsynonymous SNV P228S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 226115 chr14 75568393 75568393 C A rs201574563 NEK9 Nonsynonymous SNV A615S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 226116 chr16 2086353 2086353 G A rs201388997 SLC9A3R2 Nonsynonymous SNV R37H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 226117 chr16 2120546 2120546 C T rs367553206 TSC2 Synonymous SNV Y402Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.372 226118 chr16 2225142 2225142 C T rs377479113 TRAF7 Synonymous SNV C459C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.87 226119 chr19 1469467 1469467 C A rs549641525 APC2 Nonsynonymous SNV P2055Q 0.005 0.003 0.003 2 6 1 0.005 1 0 0 0 0 0.4 226120 chr16 2766518 2766518 C G rs140262459 PRSS27 Nonsynonymous SNV R19T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 226121 chr19 14854579 14854579 G C ADGRE2 Nonsynonymous SNV A676G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 226122 chr16 3021628 3021628 C T rs142664175 PAQR4 Synonymous SNV A93A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.169 226123 chr14 78353477 78353477 C T rs144436820 ADCK1 Nonsynonymous SNV T88M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 226124 chr19 15234346 15234346 G A rs752317763 ILVBL Synonymous SNV A59A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.824 226125 chrX 153176383 153176383 G A rs532716652 ARHGAP4 Synonymous SNV F558F 0 0 0 2 0 0 0.005 0 0 0 0 1 6.326 226126 chr18 21819227 21819227 G A rs778887750 OSBPL1A Synonymous SNV P85P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.786 226127 chr5 141029028 141029028 C T rs374170709 FCHSD1 Synonymous SNV A103A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 226128 chr19 15918449 15918449 G A rs187451101 OR10H1 Synonymous SNV N133N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.451 226129 chr14 92157889 92157889 G T rs144812090 CATSPERB Nonsynonymous SNV A281E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 226130 chr4 187518874 187518874 G A rs116628547 FAT1 Synonymous SNV G4110G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Benign 12.52 226131 chr16 4943617 4943617 C T rs202175086 PPL Nonsynonymous SNV V473M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27 226132 chr16 5083718 5083718 T A NAGPA Nonsynonymous SNV D33V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 226133 chr10 104159878 104159878 T C rs771237410 NFKB2 Nonsynonymous SNV I504T 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 20.1 226134 chr10 104488195 104488195 C T SFXN2 Nonsynonymous SNV P114S 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 25.8 226135 chr17 80963032 80963032 G A rs147813609 B3GNTL1 Nonsynonymous SNV R155C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 226136 chr19 17113083 17113083 G A rs10426545 CPAMD8 Nonsynonymous SNV R251W 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.3 226137 chr1 24932223 24932223 G C rs62623442 NCMAP Nonsynonymous SNV Q98H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 226138 chr1 24932232 24932232 G A rs74062045 NCMAP Synonymous SNV T101T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.83 226139 chr1 26314810 26314810 G A rs79851686 PAFAH2 Nonsynonymous SNV R85C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 226140 chr15 51828891 51828891 A G DMXL2 Nonsynonymous SNV S596P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.444 226141 chr4 3388163 3388163 C T rs147432997 RGS12 Synonymous SNV G25G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 226142 chr18 47405395 47405395 G A rs771709366 MYO5B Nonsynonymous SNV R1066W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 226143 chr4 366686 366686 G A rs782174052 ZNF141 Nonsynonymous SNV V78I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.827 226144 chr15 56387547 56387547 A C RFX7 Synonymous SNV S696S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 226145 chr15 56387872 56387872 A G rs755776857 RFX7 Nonsynonymous SNV I588T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.386 226146 chr18 50734186 50734186 C T rs144792181 DCC Synonymous SNV D620D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 226147 chr16 19656234 19656234 G T rs746235591 VPS35L Nonsynonymous SNV R564I 0 0 0 1 0 0 0.003 0 0 0 0 0 33 226148 chr16 19867865 19867866 TC - rs778749853 IQCK S199Lfs*24 0 0 0 1 0 0 0.003 0 0 0 0 0 226149 chr15 58306075 58306075 C T rs780416747 ALDH1A2 Nonsynonymous SNV R19Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 226150 chr18 21140434 21140434 G A NPC1 Synonymous SNV V214V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.55 226151 chr19 19035091 19035091 G A rs751625714 DDX49 Nonsynonymous SNV V276M 0 0 0.007 2 0 0 0.005 2 0 0 0 0 29.6 226152 chr1 32800634 32800634 A T MARCKSL1 Nonsynonymous SNV V51E 0 0 0 2 0 0 0.005 0 0 0 0 0 23 226153 chr14 105180579 105180579 C T rs760488958 INF2 Nonsynonymous SNV T1027M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.86 226154 chr15 64430318 64430318 C T rs1040193073 SNX1 Synonymous SNV T532T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 226155 chr15 65370184 65370184 A G rs753616926 KBTBD13 Nonsynonymous SNV H344R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 226156 chr4 47682192 47682192 G A rs771465430 CORIN Synonymous SNV H366H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 226157 chr1 33992822 33992822 C A rs370729424 CSMD2 Nonsynonymous SNV R3259L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 226158 chr16 28507557 28507557 C T rs368408225 APOBR Nonsynonymous SNV L399F 0 0 0 2 0 0 0.005 0 0 0 0 0 11.72 226159 chr19 2630729 2630729 A T MIR7850 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 226160 chr14 105752675 105752675 C T rs144673138 BRF1 Nonsynonymous SNV V75M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.3 226161 chr16 28965919 28965919 A G rs956508783 NFATC2IP Nonsynonymous SNV H165R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 226162 chr19 30934640 30934640 G A rs762801255 ZNF536 Synonymous SNV E57E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 226163 chr19 3179131 3179131 C T rs762051085 S1PR4 Nonsynonymous SNV A114V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 226164 chr19 3179657 3179657 G A rs200233699 S1PR4 Nonsynonymous SNV M289I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 226165 chr4 57865914 57865914 T A POLR2B Synonymous SNV I214I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.42 226166 chr15 31324996 31324996 G A rs727504182 TRPM1 Nonsynonymous SNV R967W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 226167 chr18 72347253 72347253 G A rs201719725 ZNF407 Synonymous SNV L1426L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 3.427 226168 chr19 34297900 34297900 G A rs373520591 KCTD15 Synonymous SNV P125P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 226169 chr18 72997694 72997694 A G TSHZ1 Nonsynonymous SNV D111G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 226170 chr18 46645288 46645288 G A DYM Synonymous SNV D523D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.78 226171 chr16 31153142 31153142 G A PRSS36 Nonsynonymous SNV T549I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.384 226172 chr16 31471173 31471173 G A rs201768837 ARMC5 Nonsynonymous SNV A110T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 18.32 226173 chr19 35899217 35899217 G C rs112268455 LINC01531 0 0 0.061 0 0 0 0 18 0 0 3 0 0.495 226174 chr18 51888722 51888722 A G C18orf54 Synonymous SNV E331E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.1 226175 chr16 53468597 53468597 T G RBL2 Synonymous SNV P43P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.819 226176 chr16 56504704 56504704 G T OGFOD1 0 0 0 1 0 0 0.003 0 0 0 0 0 25 226177 chr19 813793 813793 C T rs779560227 PLPPR3 Nonsynonymous SNV D340N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 20.4 226178 chr5 180424223 180424223 A G rs371364543 BTNL3 Synonymous SNV S136S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 226179 chr5 180432509 180432509 C T rs756709540 BTNL3 Synonymous SNV D346D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 226180 chr19 3778220 3778220 G A rs775028525 MATK Synonymous SNV D454D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.505 226181 chr18 60015446 60015446 G A rs149317524 TNFRSF11A Nonsynonymous SNV E41K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.02 226182 chr16 58541889 58541889 G A rs149936678 NDRG4 Nonsynonymous SNV A257T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 226183 chr4 7802206 7802206 C T rs150766075 AFAP1 Nonsynonymous SNV R410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 226184 chr16 68324323 68324323 C G SLC7A6 Nonsynonymous SNV A225G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 226185 chr19 39787150 39787150 C T IFNL1 Nonsynonymous SNV T30I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 226186 chr16 69368819 69368819 C T rs780027868 COG8 Nonsynonymous SNV G340S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.259 226187 chr19 2227080 2227080 G T DOT1L Synonymous SNV S1520S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.418 226188 chr4 83582104 83582104 T C rs754378018 SCD5 Synonymous SNV L232L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.944 226189 chr15 89383307 89383307 G T rs368963320 ACAN Synonymous SNV R173R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.015 226190 chr15 44090648 44090648 G A SERINC4 Synonymous SNV C171C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 226191 chr4 8470066 8470066 - G TRMT44 Frameshift insertion E402Rfs*70 0.001 0 0 0 1 0 0 0 0 0 0 0 226192 chr15 89422320 89422320 G A rs138635787 HAPLN3 Nonsynonymous SNV P225L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 226193 chr10 26513561 26513561 C T rs55789936 GAD2 Synonymous SNV G235G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 12.58 226194 chr19 41928276 41928276 G T BCKDHA 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 23.5 226195 chr4 87656824 87656824 C G PTPN13 Nonsynonymous SNV I743M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 226196 chr15 90190859 90190859 G A rs759630581 KIF7 Synonymous SNV L510L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 226197 chr15 50578247 50578247 G A rs753055094 GABPB1 Synonymous SNV P351P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.04 226198 chr15 50769068 50769068 G A rs766331208 USP8 Nonsynonymous SNV R214H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 226199 chr5 52360797 52360797 G A rs113282066 ITGA2 Nonsynonymous SNV R553Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 226200 chr19 4499646 4499656 GGAGCTGGCCG - rs782198757 HDGFL2 L575Gfs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 226201 chr19 44097117 44097117 C T rs541944886 IRGQ Synonymous SNV K311K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 226202 chr19 44129313 44129313 A G rs760471611 CADM4 Nonsynonymous SNV V282A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 226203 chr1 60330333 60330333 T G rs372695012 HOOK1 Synonymous SNV A552A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 226204 chr1 6203883 6203883 G A rs143956519 CHD5 Synonymous SNV D681D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.424 226205 chr15 57815748 57815748 G A rs144685662 CGNL1 Nonsynonymous SNV S926N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.712 226206 chr5 10618537 10618537 C T rs372641307 ANKRD33B Synonymous SNV S153S 0.003 0 0 0 3 0 0 0 0 0 0 0 19.41 226207 chr5 10681089 10681089 A - DAP R116Afs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 226208 chr1 6589165 6589165 C A rs372889002 NOL9 Nonsynonymous SNV A572S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 226209 chr5 11018144 11018144 G A rs770201668 CTNND2 Nonsynonymous SNV A672V 0.003 0 0 0 3 0 0 0 0 0 0 0 34 226210 chr5 11346684 11346684 G A rs771436418 CTNND2 Synonymous SNV H139H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.267 226211 chr19 4548150 4548150 C T rs373521467 SEMA6B Nonsynonymous SNV R497Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 226212 chr19 45570722 45570722 A G CLASRP Nonsynonymous SNV S451G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 226213 chr19 46029420 46029420 G A VASP Synonymous SNV K376K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 226214 chr19 46285533 46285533 G A rs149751203 DMPK Stop gain R33X 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 226215 chr16 88793501 88793501 C T rs914987977 PIEZO1 Nonsynonymous SNV R1134H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.889 226216 chr19 12984865 12984865 C T rs765516069 MAST1 Synonymous SNV F1298F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 226217 chr19 8615513 8615513 C G rs1029869542 MYO1F Synonymous SNV G275G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.927 226218 chr5 130840332 130840332 T C rs773471985 RAPGEF6 Nonsynonymous SNV H414R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 226219 chr10 55587197 55587197 - GGC rs559130985 PCDH15 P1372_G1373insP 0 0.003 0 0 0 1 0 0 0 0 0 0 226220 chr16 837725 837725 T G rs1026068340 RPUSD1 Nonsynonymous SNV S5R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 226221 chr19 14204500 14204500 G A rs966656681 PRKACA Synonymous SNV N366N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 10.61 226222 chr5 132150239 132150239 C A SOWAHA Nonsynonymous SNV P309Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 226223 chr19 4818152 4818152 C T rs199816697 TICAM1 Nonsynonymous SNV V80M 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Uncertain significance 1.034 226224 chr5 134782076 134782076 G A rs147422825 DCANP1 Synonymous SNV H241H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.06 226225 chr19 4852198 4852198 C T rs756337190 PLIN3 Nonsynonymous SNV R155H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 226226 chr17 456619 456619 C T rs776733428 VPS53 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 226227 chr19 9021069 9021069 C T rs758491152 MUC16 Synonymous SNV R12418R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.778 226228 chr19 9021075 9021075 T C rs76949269 MUC16 Synonymous SNV T12416T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.019 226229 chr19 9021096 9021096 G A rs79920615 MUC16 Synonymous SNV G12409G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.568 226230 chr19 9021107 9021107 C G rs75219945 MUC16 Nonsynonymous SNV G12406R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.326 226231 chr19 9021138 9021138 G A MUC16 Synonymous SNV T12395T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.24 226232 chr19 15367868 15367868 G A rs200706361 BRD4 Synonymous SNV S486S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.79 226233 chr19 49377089 49377089 A G rs148069203 PPP1R15A Nonsynonymous SNV K200R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.12 226234 chr5 139909138 139909138 A C rs143093388 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV T2203P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 226235 chr5 139931641 139931641 C T rs143576066 SRA1 Nonsynonymous SNV E106K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 226236 chr19 49469607 49469607 C T rs751923171 FTL Synonymous SNV L107L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.949 226237 chr10 71835532 71835532 C T rs370042455 MACROH2A2 Nonsynonymous SNV R40W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 226238 chr19 16528864 16528864 C T rs371858696 EPS15L1 Synonymous SNV A334A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 226239 chr15 82336035 82336035 T C rs765539499 MEX3B Synonymous SNV V392V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 226240 chr19 16687715 16687715 G A rs370088902 MED26 Nonsynonymous SNV A309V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.993 226241 chr19 49933855 49933855 G C rs141869980 SLC17A7 Nonsynonymous SNV P535R 0 0 0.007 0 0 0 0 2 0 0 0 0 15.05 226242 chr19 49990902 49990902 G T rs747089637 RPL13A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 226243 chr6 10809056 10809056 C T MAK Nonsynonymous SNV V160I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 226244 chr19 50862306 50862306 C - rs745711581 NAPSA V333Sfs*58 0 0 0.003 0 0 0 0 1 0 0 0 0 226245 chr5 140764389 140764389 C T rs149266522 PCDHGA7 Synonymous SNV S641S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.206 226246 chr5 140779437 140779437 - T rs770811342 PCDHGB5 Frameshift insertion Y582Lfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 226247 chr17 4686201 4686201 C T rs780336818 TM4SF5 Nonsynonymous SNV R150C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 226248 chr19 10940963 10940963 G A rs755608537 DNM2 Nonsynonymous SNV V814M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 20.8 226249 chr16 10527505 10527505 A - ATF7IP2 Q320Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 226250 chr10 81928864 81928864 G A ANXA11 Nonsynonymous SNV P141L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.54 226251 chr19 12874193 12874193 T G rs200476300 HOOK2 Nonsynonymous SNV Q686P 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 226252 chr20 23066425 23066425 C T rs542297079 CD93 Synonymous SNV S135S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.2 226253 chr19 5240270 5240270 C T rs767327091 PTPRS Synonymous SNV P535P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 226254 chr20 23860213 23860213 A G rs547813815 CST5 Nonsynonymous SNV I34T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.081 226255 chr6 123377004 123377004 G C rs148805106 CLVS2 Nonsynonymous SNV E243D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.33 226256 chr16 14340899 14340899 C T rs771612885 MRTFB Synonymous SNV L583L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 226257 chr19 21477133 21477133 G A rs148687204 ZNF708 Nonsynonymous SNV T148M 0 0 0 1 0 0 0.003 0 0 0 0 0 23 226258 chr10 92617235 92617235 T G HTR7 Nonsynonymous SNV D65A 0 0.003 0 0 0 1 0 0 0 0 0 0 22 226259 chr19 14910489 14910489 T C rs757568341 OR7C1 Nonsynonymous SNV M154V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 226260 chr17 7399296 7399296 C G rs763777925 POLR2A Nonsynonymous SNV P44A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 16.4 226261 chr6 132172373 132172373 C T rs144882196 ENPP1 Synonymous SNV G174G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.58 226262 chr10 96039606 96039606 A G rs61732525 PLCE1 Nonsynonymous SNV N1270S 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 Benign 10.66 226263 chr10 96802752 96802752 A C rs145569162 CYP2C8 Synonymous SNV T246T 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 0.005 226264 chr15 101109685 101109685 G A rs771451811 LINS1 Nonsynonymous SNV P678S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.782 226265 chr16 22320296 22320296 C A rs771213501 POLR3E Nonsynonymous SNV S36R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 226266 chr19 53573311 53573311 T C rs138893110 ZNF160 Nonsynonymous SNV Q159R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 226267 chr6 138608035 138608035 C T rs751201082 ARFGEF3 Nonsynonymous SNV R923W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 226268 chr19 31040309 31040309 G A rs139373364 ZNF536 Synonymous SNV P1261P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.589 226269 chr16 23717690 23717690 G A rs34683474 ERN2 Nonsynonymous SNV R184C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 226270 chr20 33330055 33330055 C A rs369624013 NCOA6 Synonymous SNV G1335G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.44 226271 chr19 16634040 16634040 G A rs748457104 CHERP Synonymous SNV H601H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.741 226272 chr19 33870155 33870155 A G rs146979484 CEBPG Nonsynonymous SNV I4V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 226273 chr5 157178487 157178487 C T LSM11 Nonsynonymous SNV R180W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 226274 chr19 54848129 54848129 - C LILRA4 Frameshift insertion L413Rfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 226275 chr19 54848135 54848135 T - rs750649215 LILRA4 E411Gfs*133 0 0 0.003 0 0 0 0 1 0 0 0 0 226276 chr17 10248665 10248665 T C rs543041306 MYH13 Nonsynonymous SNV I480V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 226277 chr16 30387796 30387796 C T rs145741242 MYLPF Synonymous SNV S75S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 226278 chr16 30667494 30667494 T C rs771576551 PRR14 Synonymous SNV A540A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.321 226279 chr16 30749742 30749742 G A rs768493141 SRCAP Nonsynonymous SNV R2794H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.624 226280 chr5 168137997 168137997 C T rs377591667 SLIT3 Synonymous SNV A874A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.16 226281 chr16 1507265 1507265 C T rs541169535 CLCN7 Nonsynonymous SNV R247Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.1 226282 chr19 36230444 36230444 G C rs138397992 IGFLR1 Nonsynonymous SNV P81A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 226283 chr17 16365599 16365599 - AGGCTGATG LRRC75A L116_A117insISL 0 0 0 1 0 0 0.003 0 0 0 0 0 226284 chr19 17758290 17758290 T A UNC13A Stop gain K610X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 226285 chr19 37005483 37005483 A T rs746671900 ZNF260 Nonsynonymous SNV Y220N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 226286 chr19 37100912 37100912 C T rs200539753 ZNF382 Synonymous SNV Y31Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.99 226287 chr19 37241138 37241138 A C rs771332591 ZNF850 Synonymous SNV L236L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 226288 chr5 177565208 177565208 G C rs763429428 RMND5B Nonsynonymous SNV E30Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 226289 chr5 177565260 177565260 G C rs763453315 RMND5B 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 226290 chr2 188331741 188331741 G T rs142317270 TFPI Synonymous SNV G279G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.485 226291 chr16 57790280 57790280 G A rs782609580 KATNB1 Synonymous SNV T577T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.65 226292 chr16 3042718 3042718 C T rs554224288 LINC00514 0.001 0 0 0 1 0 0 0 0 0 0 0 2.97 226293 chr16 58073831 58073831 C T rs900023996 MMP15 Nonsynonymous SNV R165C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 226294 chr19 56719938 56719938 G A rs755453158 ZSCAN5C Nonsynonymous SNV S287N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 226295 chr19 56895708 56895708 T C rs537828424 ZNF582 Nonsynonymous SNV I391V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 226296 chr19 57036420 57036420 T G rs756199308 ZNF471 Nonsynonymous SNV S254R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.04 226297 chr16 66413264 66413264 C T rs762331008 CDH5 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 226298 chr16 66656105 66656105 A G rs374639194 CMTM4 Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.492 226299 chr16 66776515 66776515 G A rs746768379 DYNC1LI2 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 226300 chr16 67965099 67965099 C T rs140026167 CTRL Nonsynonymous SNV G20S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.1 226301 chr6 167754627 167754627 C T TTLL2 Synonymous SNV D413D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.358 226302 chr16 3820949 3820949 G A rs752606825 CREBBP Synonymous SNV N796N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.175 226303 chr5 180551824 180551824 T A OR2V1 Nonsynonymous SNV M161L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.602 226304 chr20 56099065 56099065 T G rs773959922 CTCFL Nonsynonymous SNV E66A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.95 226305 chr19 40362827 40362827 G A FCGBP Synonymous SNV C5081C 0 0 0 1 0 0 0.003 0 0 0 0 0 1.591 226306 chr16 69364006 69364006 G A rs143789731 PDF Synonymous SNV P156P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.908 226307 chr16 69381705 69381705 G T rs117823350 TMED6 Nonsynonymous SNV L159M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 226308 chr16 69876022 69876022 C T rs201287506 WWP2 Nonsynonymous SNV R76W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 226309 chr19 40723242 40723242 C T TTC9B Synonymous SNV E154E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 226310 chr16 4925120 4925120 C T UBN1 Synonymous SNV P903P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 226311 chr16 4935660 4935660 C T rs995161814 PPL Nonsynonymous SNV R999H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 226312 chr16 71660455 71660455 A G rs571476727 MARVELD3 Nonsynonymous SNV E108G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.341 226313 chr16 5061114 5061114 - GGCCCGGC SEC14L5 Frameshift insertion V610Gfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 226314 chr17 28003875 28003875 C T SSH2 Nonsynonymous SNV V173I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.94 226315 chr19 6368614 6368614 A C CLPP Nonsynonymous SNV K243Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 226316 chr16 74729601 74729601 C T rs146865744 MLKL Nonsynonymous SNV E19K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.13 226317 chr20 60894825 60894825 G A LAMA5 Synonymous SNV S2262S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.123 226318 chr19 35530096 35530096 T C SCN1B Nonsynonymous SNV V175A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 226319 chr5 3599995 3599995 C T rs373622269 IRX1 Synonymous SNV H311H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.723 226320 chr17 31341031 31341031 G A rs200452478 ASIC2 Synonymous SNV N497N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.33 226321 chr16 77375655 77375655 C T rs373068752 ADAMTS18 Synonymous SNV R380R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 226322 chr6 28097542 28097542 G A rs142666616 ZSCAN16 Synonymous SNV T287T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 226323 chr19 36394308 36394308 T C rs139729010 HCST Synonymous SNV P33P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 226324 chr19 36604965 36604965 G A POLR2I Synonymous SNV C89C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.033 226325 chr17 36483941 36483941 A T GPR179 Nonsynonymous SNV S1837R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.851 226326 chr19 44501605 44501607 ATT - rs748263088 ZNF155 L533del 0 0 0 1 0 0 0.003 0 0 0 0 0 226327 chr19 44777457 44777457 G - ZNF233 R215Sfs*30 0 0 0 1 0 0 0.003 0 0 0 0 0 226328 chr17 37900385 37900385 A T rs948698143 GRB7 Synonymous SNV G242G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.748 226329 chr6 35182203 35182203 C T rs751071129 SCUBE3 Nonsynonymous SNV S3L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 226330 chr19 886047 886047 G A rs769385094 MED16 Nonsynonymous SNV T201M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 226331 chr19 38377336 38377338 CTC - rs747527923 WDR87 E2325del 0 0.003 0 0 0 1 0 0 0 0 0 0 226332 chr19 4499556 4499556 G A rs774744433 HDGFL2 Synonymous SNV S548S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.833 226333 chr6 35477499 35477499 T C rs143093240 TULP1 Synonymous SNV S157S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.561 226334 chr16 27715248 27715248 G C rs527689618 KIAA0556 Nonsynonymous SNV A440P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.1 226335 chr6 35945047 35945047 G A rs201205336 SLC26A8 Synonymous SNV S264S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.31 226336 chr19 38858778 38858778 G C CATSPERG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 226337 chr19 4511342 4511342 T G PLIN4 Nonsynonymous SNV K877T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 226338 chr20 9561435 9561435 C T rs142065974 PAK5 Nonsynonymous SNV G116D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.007 226339 chr17 39211189 39211215 CAGGGCCTGCACACCACAGCCGTGCAC - KRTAP2-2 T85_C93del 0 0 0 1 0 0 0.003 0 0 0 0 0 226340 chr19 9058452 9058452 T A MUC16 Nonsynonymous SNV Q9665L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.868 226341 chr6 39859101 39859101 C T rs972244363 DAAM2-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 226342 chr19 41712285 41712285 G A rs111879045 CYP2S1 Synonymous SNV P469P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.184 226343 chr19 46341742 46341742 T C SYMPK Nonsynonymous SNV T407A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.08 226344 chr5 73205506 73205506 G A rs754487044 ARHGEF28 Synonymous SNV R1164R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 226345 chr19 46916015 46916015 C G rs776529429 CCDC8 Nonsynonymous SNV R18T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 226346 chr16 53686647 53686647 A G rs752598081 RPGRIP1L Nonsynonymous SNV L651P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 226347 chr16 89776198 89776198 G A rs372514700 VPS9D1 Synonymous SNV L459L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.72 226348 chr17 39974468 39974468 C T rs147719322 FKBP10 Synonymous SNV D173D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.43 226349 chr1 100214259 100214259 A G rs372081242 FRRS1 Synonymous SNV N22N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 8.246 226350 chr19 47969115 47969115 G A rs758641503 SLC8A2 Synonymous SNV Y182Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.27 226351 chr19 44590455 44590455 G A rs185184972 ZNF284 Nonsynonymous SNV R275Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 226352 chr21 41137655 41137655 C T rs143029603 IGSF5 Synonymous SNV Y98Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.997 226353 chr1 11024271 11024271 G A rs11121662 C1orf127 Nonsynonymous SNV R5W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 226354 chr6 47548605 47548605 A G rs150304098 CD2AP Synonymous SNV P338P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.053 226355 chr16 67575897 67575897 T C rs1056995349 RIPOR1 Nonsynonymous SNV L407P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 226356 chr17 45421584 45421585 TT - EFCAB13 L121Mfs*31 0 0.003 0 1 0 1 0.003 0 0 0 0 0 226357 chr17 3477227 3477227 G A rs200495524 TRPV1 Synonymous SNV D601D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.015 226358 chr19 49936173 49936173 G C rs191436004 SLC17A7 Synonymous SNV V304V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 226359 chr17 3533598 3533598 C A rs748544120 SHPK Stop gain E71X 0.001 0 0 0 1 0 0 0 0 0 0 0 Affects 34 226360 chr17 3559781 3559781 T C rs77453839 CTNS Synonymous SNV S154S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 3.818 226361 chr6 54002478 54002478 C T rs77657694 MLIP Synonymous SNV L526L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.027 226362 chr6 54002485 54002485 C A rs560676036 MLIP Nonsynonymous SNV L529I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.696 226363 chr16 72156889 72156889 T C rs370104077 PMFBP1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.2 226364 chr6 102483317 102483317 C T rs1045074295 GRIK2 Synonymous SNV L729L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.76 226365 chr1 11709269 11709269 T C rs754041183 FBXO2 Nonsynonymous SNV S211G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 226366 chr19 50775111 50775111 G A MYH14 Synonymous SNV R1018R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.54 226367 chr1 117503967 117503967 C T rs983845015 PTGFRN Nonsynonymous SNV A439V 0 0 0.003 0 0 0 0 1 0 0 0 0 22 226368 chr17 48653409 48653409 G C rs527691624 CACNA1G Nonsynonymous SNV G549A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.616 226369 chr19 51159547 51159547 C T rs144243088 C19orf81 Nonsynonymous SNV R69W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 226370 chr6 70500274 70500274 G C LMBRD1 Nonsynonymous SNV L54V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 226371 chr19 48205657 48205657 G A rs377111352 BICRA Synonymous SNV R1556R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 10.52 226372 chr1 119474369 119474369 C T rs959734595 TBX15 Nonsynonymous SNV G98S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.174 226373 chr6 74135164 74135164 T A rs200818241 CGAS Nonsynonymous SNV D452V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 226374 chr6 74171714 74171714 A T MTO1 Nonsynonymous SNV H46L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 226375 chr11 21581763 21581763 C T rs35814405 NELL1 Synonymous SNV H548H 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 12.19 226376 chr6 75816180 75816180 A G rs374488376 COL12A1 Synonymous SNV S1547S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.84 226377 chr6 117674158 117674158 A G rs17079086 ROS1 Nonsynonymous SNV F1439S 0.002 0 0 0 2 0 0 0 0 0 0 0 25 226378 chr6 117709145 117709145 G T rs148442289 ROS1 Synonymous SNV A604A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.714 226379 chr22 18018702 18018702 C G CECR2 Nonsynonymous SNV S300R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 226380 chr1 145441028 145441028 T C rs782372285 TXNIP Nonsynonymous SNV F317S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 226381 chr22 18065409 18065409 A G rs368887082 SLC25A18 Nonsynonymous SNV M94V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.78 226382 chr1 146649655 146649655 C T rs188346648 PDIA3P1 0 0 0.007 0 0 0 0 2 0 0 0 0 8.934 226383 chr22 19121869 19121869 C T rs776531141 ESS2 Nonsynonymous SNV R424H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 226384 chr6 89888581 89888581 T A rs762600089 GABRR1 Nonsynonymous SNV I433F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 226385 chr1 150445677 150445677 G C rs373510243 RPRD2 Nonsynonymous SNV R1392P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 226386 chr16 85112535 85112535 C T rs753884307 KIAA0513 Synonymous SNV T276T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.882 226387 chr17 7535236 7535236 T C SHBG Nonsynonymous SNV L252S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 226388 chr6 90362753 90362753 G C rs761195382 MDN1 Synonymous SNV T5261T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 226389 chr19 49575303 49575303 T G rs770221707 KCNA7 Synonymous SNV A180A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.697 226390 chr19 49793862 49793862 G A rs375943996 SLC6A16 Synonymous SNV T647T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.847 226391 chr22 21983002 21983002 G A rs369691054 YDJC Nonsynonymous SNV A226V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.41 226392 chr17 66899475 66899475 T - rs780359575 ABCA8 K815Sfs*2 0 0.003 0 1 0 1 0.003 0 0 0 0 0 226393 chr1 152185661 152185661 C T rs199581294 HRNR Nonsynonymous SNV G2815E 0 0 0.007 0 0 0 0 2 0 0 0 0 7.803 226394 chr6 133045881 133045881 G A rs192386975 VNN3 Nonsynonymous SNV T64I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.662 226395 chr17 8272470 8272470 G A rs145886541 KRBA2 Synonymous SNV S405S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.949 226396 chr19 50910250 50910250 A G POLD1 Nonsynonymous SNV D502G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23 226397 chr19 50912463 50912463 C T rs45605236 POLD1 Synonymous SNV I685I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.32 226398 chr17 9792774 9792774 C T rs61733939 GLP2R Nonsynonymous SNV R472W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.2 226399 chr17 71391302 71391302 C T rs140824189 SDK2 Nonsynonymous SNV R1195Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 226400 chr6 139563813 139563813 G A rs144738388 TXLNB Synonymous SNV C635C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.198 226401 chr22 24143206 24143206 A G rs35105793 SMARCB1 Synonymous SNV P137P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 7.389 226402 chr17 72227122 72227122 C G TTYH2 Nonsynonymous SNV S112C 0 0 0 1 0 0 0.003 0 0 0 0 0 29 226403 chr17 10398309 10398309 T C rs750670553 MYH1 Nonsynonymous SNV D1802G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 226404 chr1 154166182 154166182 A G rs376882956 MIR190B 0 0 0.007 0 0 0 0 2 0 0 0 0 15.54 226405 chr17 72345390 72345390 G A rs78437913 KIF19 Nonsynonymous SNV R372Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 28.7 226406 chr6 143082629 143082629 C T rs201565528 HIVEP2 Synonymous SNV S1864S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.26 226407 chr16 89352515 89352515 T C rs138723232 ANKRD11 Nonsynonymous SNV N275S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 226408 chr17 72356241 72356241 C T rs376825535 BTBD17 Nonsynonymous SNV V77I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 226409 chr19 51466802 51466802 A G KLK6 Synonymous SNV N67N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 226410 chr17 18244158 18244158 T C rs370930979 MIR6778 0.002 0 0 0 2 0 0 0 0 0 0 0 1.525 226411 chr1 15736672 15736672 A G EFHD2 Nonsynonymous SNV I69V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.764 226412 chr17 73998420 73998420 A G CDK3 Nonsynonymous SNV N136S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 226413 chr19 52537732 52537732 G A ZNF432 Synonymous SNV P400P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.067 226414 chr17 74068527 74068527 - GCCGCC SRP68 G15_S16insGG 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 226415 chr17 74085373 74085373 G A rs142975675 EXOC7 Synonymous SNV T269T 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 14.5 226416 chr17 74143481 74143481 - CCG RNF157-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 226417 chr17 3119548 3119548 T C rs920870114 OR1A1 Nonsynonymous SNV C212R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 226418 chr17 75205547 75205547 G T rs143320926 SEC14L1 Nonsynonymous SNV A500S 0.002 0.008 0 3 2 3 0.008 0 0 0 0 0 Benign 19.61 226419 chr6 158923609 158923609 C T rs762862451 TULP4 Nonsynonymous SNV R972W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 226420 chr17 75471802 75471802 G C rs200871334 SEPTIN9 Nonsynonymous SNV G68R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.249 226421 chr17 76115094 76115094 G T TMC6 Synonymous SNV A615A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.855 226422 chr19 53116739 53116739 A G ZNF83 Nonsynonymous SNV L360P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 226423 chr19 53344588 53344588 A G ZNF468 Nonsynonymous SNV I320T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 226424 chr17 3772846 3772846 C T rs191868145 CAMKK1 Nonsynonymous SNV V426M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 226425 chr17 26656289 26656289 C T rs139696386 IFT20 Nonsynonymous SNV R76Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 226426 chr1 161042597 161042597 G C rs142579218 NECTIN4 Nonsynonymous SNV P463A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 226427 chr17 27436974 27436974 T A rs958013064 MYO18A Nonsynonymous SNV D1078V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 226428 chr19 57325443 57325443 G A rs34831553 PEG3 Nonsynonymous SNV A1301V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.21 226429 chr1 16259913 16259915 CTC - rs766524287 SPEN P2395del 0 0 0.003 0 0 0 0 1 0 0 0 0 226430 chr19 54976648 54976648 G T CDC42EP5 Synonymous SNV G28G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.358 226431 chr19 54976649 54976649 C T CDC42EP5 Nonsynonymous SNV G28D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 226432 chr19 55452353 55452353 T C rs150677758 NLRP7 Nonsynonymous SNV I100V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 226433 chr17 32904438 32904438 C T C17orf102 0.001 0 0 0 1 0 0 0 0 0 0 0 5.421 226434 chr17 33310065 33310065 G A rs749670812 LIG3 Nonsynonymous SNV R14H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 226435 chr1 170003599 170003599 A G rs749176192 KIFAP3 Nonsynonymous SNV I175T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 226436 chr17 6606324 6606324 C T rs139698810 SLC13A5 Synonymous SNV T184T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.02 226437 chr6 22290546 22290546 G A rs6238 PRL Stop gain R117X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 38 226438 chr17 36865458 36865458 G A MLLT6 Synonymous SNV E129E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 226439 chr19 58945060 58945060 G A rs748682660 ZNF132 Nonsynonymous SNV S584F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 226440 chr17 80196598 80196598 C A SLC16A3 Nonsynonymous SNV H382N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.257 226441 chr17 37922123 37922123 T G rs373060211 IKZF3 Nonsynonymous SNV M237L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 226442 chr22 45309922 45309922 C T PHF21B Nonsynonymous SNV C204Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 226443 chr1 176564419 176564419 G A rs761498354 PAPPA2 Nonsynonymous SNV R560H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 226444 chr22 45795193 45795193 T C rs751232059 SMC1B Nonsynonymous SNV I299V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.64 226445 chr19 6466477 6466477 C T rs141345495 CRB3 Nonsynonymous SNV R53C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 226446 chr18 10485638 10485638 C T rs751607212 APCDD1 Synonymous SNV N318N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.33 226447 chr17 39535241 39535241 G A rs748114147 KRT34 Nonsynonymous SNV T397M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 226448 chr18 10705462 10705462 C T rs776642495 PIEZO2 Synonymous SNV S1844S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.113 226449 chr7 138482906 138482906 C T rs373396667 TMEM213 Synonymous SNV A19A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 11.93 226450 chr6 36287189 36287189 T G rs563112205 BNIP5 Nonsynonymous SNV M623L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.85 226451 chr17 16321176 16321176 G A rs115484193 TRPV2 Nonsynonymous SNV G65D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.582 226452 chr22 50988177 50988177 G A rs759893144 KLHDC7B Nonsynonymous SNV A1169T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.489 226453 chr1 19181076 19181076 G A rs374637435 TAS1R2 Synonymous SNV A296A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.555 226454 chr17 17070605 17070605 C T rs61729732 MPRIP Synonymous SNV S1932S 0.01 0.003 0.01 3 12 1 0.008 3 0 0 0 0 19.34 226455 chr17 17071183 17071183 C T rs11868392 MPRIP Nonsynonymous SNV A2125V 0.01 0.003 0.01 3 12 1 0.008 3 0 0 0 0 4.137 226456 chr18 19020347 19020347 C T rs369888713 GREB1L Nonsynonymous SNV T356M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.6 226457 chr17 17119761 17119761 C T rs61750032 FLCN Synonymous SNV E411E 0.008 0.003 0.01 1 9 1 0.003 3 0 0 0 0 Benign 14.25 226458 chr19 8575735 8575773 CCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG - rs768916342 ZNF414 A354_A366del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 226459 chr17 18024819 18024819 C T rs568115513 MYO15A Nonsynonymous SNV A902V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 226460 chr17 18055458 18055458 G A rs372373045 MYO15A Synonymous SNV P2642P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.75 226461 chr20 870881 870881 C T rs150123876 ANGPT4 Nonsynonymous SNV R147H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 226462 chr17 40376874 40376874 G A rs199894785 STAT5B Nonsynonymous SNV R100C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 226463 chr2 103334987 103334987 G A rs371049759 MFSD9 Synonymous SNV C378C 0.005 0 0 1 6 0 0.003 0 0 0 0 0 9.154 226464 chr17 20135651 20135651 C T rs150686224 SPECC1 Nonsynonymous SNV R681W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 226465 chr7 142880770 142880770 C T TAS2R39 Stop gain Q87X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 226466 chr7 1477981 1477981 A C rs11980797 MICALL2 Nonsynonymous SNV L711V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 226467 chr7 1477982 1477982 G A rs11976820 MICALL2 Synonymous SNV P710P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.431 226468 chr7 1478576 1478576 G A rs61736386 MICALL2 Synonymous SNV D674D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.309 226469 chr17 42399875 42399875 T C rs199503270 SLC25A39 Star tloss N56S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 226470 chr17 42431491 42431491 G C FAM171A2 Synonymous SNV P697P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.042 226471 chr18 42529990 42529990 G A rs143196787 SETBP1 Nonsynonymous SNV G229R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 26.9 226472 chr1 203767234 203767234 G C ZBED6 Nonsynonymous SNV G195A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.747 226473 chr1 203768470 203768470 T A ZBED6 Nonsynonymous SNV V607E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 226474 chr7 1498858 1498858 A G rs61090716 MICALL2 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.555 226475 chr2 119731960 119731960 C T rs150463190 MARCO Nonsynonymous SNV P171L 0 0 0 2 0 0 0.005 0 0 0 0 0 22 226476 chr20 3686531 3686531 T C rs778280820 SIGLEC1 Nonsynonymous SNV Q189R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 226477 chr17 27010648 27010648 C T rs367756888 SUPT6H Synonymous SNV N681N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 226478 chr17 47013548 47013548 C T rs144625875 SNF8 Nonsynonymous SNV A119T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 226479 chr18 52596113 52596113 C T rs116313783 CCDC68 Nonsynonymous SNV E201K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.1 226480 chr18 54424320 54424320 C T rs138443774 WDR7 Synonymous SNV T832T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.813 226481 chr7 151878336 151878336 A G rs145094194 KMT2C Synonymous SNV Y2203Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 226482 chr7 1538426 1538426 G A rs201018657 INTS1 Synonymous SNV S400S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.623 226483 chr2 131521985 131521985 G C rs368377961 AMER3 Nonsynonymous SNV E780D 0 0 0 2 0 0 0.005 0 0 0 0 0 10.35 226484 chr1 20931449 20931449 G A rs61735379 CDA Synonymous SNV P61P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.201 226485 chr18 56367802 56367802 G A rs775236927 MALT1 Nonsynonymous SNV D210N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.32 226486 chr17 57274934 57274934 G A rs147153603 PRR11 Nonsynonymous SNV R296Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 226487 chr2 138413146 138413146 G C rs201685266 THSD7B Nonsynonymous SNV A1341P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.599 226488 chr17 36868998 36868998 C T MLLT6 Nonsynonymous SNV P259S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 226489 chr1 10166452 10166452 C T rs909148687 UBE4B Nonsynonymous SNV T336I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 226490 chr1 216052410 216052410 C T rs201863550 USH2A Nonsynonymous SNV G2752R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 35 226491 chr1 220752718 220752718 C T rs199539694 MARK1 Nonsynonymous SNV T25I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.8 226492 chr20 31099239 31099239 G C rs1021516793 NOL4L Nonsynonymous SNV L204V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 226493 chr18 66678182 66678182 C A rs17080065 CCDC102B Nonsynonymous SNV N425K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.9 226494 chr18 66678192 66678192 G C rs9963788 CCDC102B Nonsynonymous SNV A429P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.6 226495 chr18 72245550 72245550 G T rs146449027 CNDP1 Synonymous SNV A385A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.96 226496 chr1 110561733 110561733 A G AHCYL1 Nonsynonymous SNV T413A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.1 226497 chr1 225230746 225230746 A G DNAH14 Synonymous SNV S566S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 226498 chr17 39340694 39340694 C T rs112363564 KRTAP4-1 Nonsynonymous SNV R119H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 226499 chr1 116932176 116932176 T C ATP1A1 Synonymous SNV H290H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.266 226500 chr6 90276733 90276733 G A rs199519943 ANKRD6 Nonsynonymous SNV R13H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 226501 chr17 73916486 73916486 G A rs201135595 FBF1 Nonsynonymous SNV R567W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 226502 chr17 73919719 73919719 C A rs139191003 FBF1 Nonsynonymous SNV R324S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 226503 chr1 228787051 228787051 G A rs890733502 DUSP5P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.663 226504 chr17 39976713 39976713 C T rs146422412 FKBP10 Nonsynonymous SNV S419L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 35 226505 chr20 44578900 44578900 T C rs143113106 ZNF335 Nonsynonymous SNV I1149V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 226506 chr17 41345491 41345491 A G rs904525482 NBR1 Nonsynonymous SNV T433A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 226507 chr19 1119121 1119121 G A rs370834213 SBNO2 Synonymous SNV V415V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 226508 chr20 47706274 47706274 T G CSE1L Synonymous SNV A668A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.815 226509 chr20 47865566 47865566 C T rs201368731 ZNFX1 Nonsynonymous SNV R1332Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 226510 chr1 145688140 145688140 C T rs370382045 RNF115 Nonsynonymous SNV R279W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 226511 chr17 42169131 42169131 A C HDAC5 Synonymous SNV P368P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.659 226512 chr17 42254988 42254988 C G ASB16 Nonsynonymous SNV H358Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 226513 chr19 1795927 1795927 C G rs767407696 ATP8B3 Nonsynonymous SNV E621Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.2 226514 chr19 2109122 2109122 A T rs143105452 AP3D1 Nonsynonymous SNV N1083K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.36 226515 chr17 45361838 45361838 C T rs199866698 ITGB3 Nonsynonymous SNV R131W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 226516 chr19 2732781 2732781 C T rs200442678 SLC39A3 Nonsynonymous SNV V305I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.52 226517 chr17 78055765 78055765 C T rs200551690 CCDC40 Nonsynonymous SNV R633W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 226518 chr17 45994350 45994350 C T rs142857959 SP2 Nonsynonymous SNV P305S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 226519 chr17 78061564 78061564 C T rs61749025 CCDC40 Nonsynonymous SNV R870C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.6 226520 chr17 46154296 46154296 T C CBX1 Nonsynonymous SNV E24G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 226521 chr19 3543380 3543380 C G rs201844208 C19orf71 Stop gain Y77X 0.002 0.003 0 4 2 1 0.01 0 0 0 0 1 35 226522 chr17 78184578 78184578 C A rs34297805 SGSH Nonsynonymous SNV M394I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.8 226523 chr19 3752935 3752935 C - APBA3 Q355Hfs*90 0 0 0 1 0 0 0.003 0 0 0 0 0 226524 chr1 154296202 154296202 C T rs559006639 AQP10 Synonymous SNV C209C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.301 226525 chr19 4224169 4224169 C T rs746580038 ANKRD24 Nonsynonymous SNV H1115Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 226526 chr17 49072567 49072567 C T rs759656111 SPAG9 Nonsynonymous SNV V536I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 226527 chr17 79668089 79668089 C T rs369555681 HGS Synonymous SNV T717T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 226528 chr17 79818257 79818257 T G P4HB Nonsynonymous SNV K31Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 226529 chr19 4511636 4511636 C A PLIN4 Nonsynonymous SNV G779V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 226530 chr19 4512138 4512138 C T rs201390076 PLIN4 Nonsynonymous SNV A612T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 226531 chr17 56385116 56385116 C T rs200421546 TSPOAP1 Synonymous SNV A1553A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 226532 chr18 662247 662247 A G rs3786362 TYMS Synonymous SNV E127E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 3.478 226533 chr20 62595935 62595935 G A rs201917007 ZNF512B Nonsynonymous SNV S390L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.396 226534 chr7 88963373 88963373 C A rs200613424 ZNF804B Nonsynonymous SNV H359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 226535 chr19 7527216 7527216 C T rs2303140 ARHGEF18 Synonymous SNV S635S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 19.52 226536 chr1 158151505 158151505 T G rs145209409 CD1D Nonsynonymous SNV L108V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.001 226537 chr18 7010328 7010328 G A rs141251142 LAMA1 Synonymous SNV G1248G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 10.1 226538 chr7 103004599 103004599 T A PSMC2 Nonsynonymous SNV F201I 0.002 0 0 0 2 0 0 0 0 0 0 0 33 226539 chr21 30378772 30378772 A G RWDD2B Nonsynonymous SNV V309A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 226540 chr7 106685640 106685640 G T rs115878034 PRKAR2B Synonymous SNV A96A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.82 226541 chr21 30426197 30426197 G A rs749015487 USP16 Synonymous SNV S755S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.93 226542 chr17 68129145 68129145 G A KCNJ16 Stop gain W341X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 226543 chr21 31802758 31802758 C T KRTAP13-4 Synonymous SNV C55C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.376 226544 chr18 13057598 13057598 C T rs375537532 CEP192 Nonsynonymous SNV P1375S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 226545 chr21 33949152 33949152 G A rs145109364 C21orf59-TCP10L, TCP10L Nonsynonymous SNV R194C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.94 226546 chr1 3301765 3301765 C T rs201182055 PRDM16 Nonsynonymous SNV A163V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.61 226547 chr17 72249256 72249256 C T TTYH2 Synonymous SNV P111P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 226548 chr7 117120162 117120162 C T rs193922501 CFTR Nonsynonymous SNV P5L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 226549 chr7 117176717 117176717 A T rs397508804 CFTR Nonsynonymous SNV N287Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 226550 chr8 105479137 105479137 G A rs765217636 DPYS Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.878 226551 chr7 123302926 123302926 C G LMOD2 Nonsynonymous SNV P429R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.8 226552 chr7 128394594 128394594 A G rs748187816 CALU Nonsynonymous SNV D78G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 226553 chr21 42851110 42851110 T G TMPRSS2 Nonsynonymous SNV K261N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 226554 chr17 74154519 74154519 C T rs367723900 RNF157 Synonymous SNV S456S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 226555 chr7 133994136 133994136 G A rs146086797 SLC35B4 Nonsynonymous SNV P58L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 226556 chr17 76134198 76134198 G A rs139756868 TMC8 Nonsynonymous SNV G488S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 32 226557 chr21 45494342 45494342 C T rs367596961 TRAPPC10 Synonymous SNV A392A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 226558 chr7 138944052 138944052 C T rs771619138 UBN2 Nonsynonymous SNV R281W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 226559 chr1 45808900 45808900 G A rs772373489 TOE1 Synonymous SNV P353P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 226560 chr18 56816840 56816840 C T rs11663126 SEC11C Synonymous SNV I61I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 226561 chr19 9968487 9968487 G A rs762562916 OLFM2 Synonymous SNV R10R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.71 226562 chr21 46929992 46929992 G A rs374326288 COL18A1 Synonymous SNV A1347A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 5.891 226563 chr19 10207036 10207036 G A ANGPTL6 Synonymous SNV R68R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 226564 chr21 47552013 47552013 C T rs150219725 COL6A2 Synonymous SNV D869D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 7.542 226565 chr19 11039959 11039959 C G rs765637963 TIMM29 Nonsynonymous SNV L122V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 226566 chr1 53905567 53905567 A G rs542991093 SLC25A3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.731 226567 chr1 54506461 54506461 T C TMEM59 Synonymous SNV G159G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.943 226568 chr18 74592137 74592137 G A rs755413667 ZNF236 Synonymous SNV P351P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.754 226569 chr18 76753488 76753488 C T SALL3 Synonymous SNV Y499Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.316 226570 chr22 17589480 17589480 G A IL17RA Synonymous SNV A423A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.387 226571 chr2 234967597 234967597 T G rs200097563 SPP2 Nonsynonymous SNV Y110D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.07 226572 chr17 79791729 79791729 C T rs752939473 PPP1R27 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 226573 chr18 77246475 77246475 G A rs200898942 NFATC1 Nonsynonymous SNV A302T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.511 226574 chr1 59004587 59004587 G C OMA1 Nonsynonymous SNV P127R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 226575 chr22 19754117 19754117 C T rs200135498 TBX1 Synonymous SNV P405P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.96 226576 chr17 79983367 79983367 C T rs117200853 LRRC45 Synonymous SNV D215D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.453 226577 chr19 504853 504853 G A rs141825568 MADCAM1 Nonsynonymous SNV R259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 226578 chr17 80047255 80047255 C T rs151060676 FASN Synonymous SNV P657P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.404 226579 chr1 5965433 5965433 G A rs377160096 NPHP4 Nonsynonymous SNV P113L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.64 226580 chr1 186122969 186122969 C T rs747431472 HMCN1 Nonsynonymous SNV P5036S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 226581 chr19 843620 843620 G A rs754825960 PRTN3 Nonsynonymous SNV R74Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.49 226582 chr2 239049786 239049786 G T rs574320614 KLHL30 Nonsynonymous SNV D131Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.8 226583 chr2 24194160 24194160 G T rs139718365 UBXN2A Nonsynonymous SNV G19V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 226584 chr22 25115501 25115501 C T PIWIL3 Nonsynonymous SNV V863M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 226585 chr1 197093319 197093319 C T rs146959075 ASPM Nonsynonymous SNV G1104D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 2.355 226586 chr2 242756104 242756104 G T rs758294570 NEU4 Nonsynonymous SNV V86L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.26 226587 chr1 70452017 70452017 T C rs17131103 LRRC7 Synonymous SNV L294L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.109 226588 chr1 74936092 74936092 C T rs541070211 LRRC53 Nonsynonymous SNV E1072K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25 226589 chr1 201009011 201009011 C T rs72749169 CACNA1S Nonsynonymous SNV S1857N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23.3 226590 chr19 16338471 16338471 C T rs374198455 AP1M1 Synonymous SNV F262F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.29 226591 chr19 1619317 1619317 G A rs553896459 TCF3 Synonymous SNV L442L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.779 226592 chr1 84372133 84372133 C T rs140550431 TTLL7 Nonsynonymous SNV R642Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 226593 chr8 19250941 19250941 G A rs117786890 SH2D4A Synonymous SNV S342S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.816 226594 chr19 2807545 2807545 G A rs763472584 THOP1 Nonsynonymous SNV R331H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 226595 chr22 31484553 31484553 G A rs781573730 SMTN Synonymous SNV Q141Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.205 226596 chr1 201454482 201454482 C T CSRP1 Nonsynonymous SNV R139Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 226597 chr19 2934768 2934768 G A rs530271258 ZNF77 Synonymous SNV C119C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.731 226598 chr19 2936660 2936660 C T rs139544741 ZNF77 Nonsynonymous SNV R58K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 226599 chr8 2063891 2063891 G C rs143305181 MYOM2 Nonsynonymous SNV G1107A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 24.5 226600 chr2 27597597 27597597 G A rs145463878 SNX17 Nonsynonymous SNV R193Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.5 226601 chr7 2740128 2740128 C T rs370181740 AMZ1 Nonsynonymous SNV R15W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 226602 chr19 3527698 3527698 C T rs148549110 FZR1 Synonymous SNV D180D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 226603 chr2 28050589 28050589 C T rs144415591 RBKS Nonsynonymous SNV A214T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.67 226604 chr19 3546345 3546345 C T rs201744425 MFSD12 Nonsynonymous SNV V359M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 226605 chr7 29966229 29966229 T C rs151249549 SCRN1 Nonsynonymous SNV I241V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.57 226606 chr12 130921557 130921557 G A rs770059326 RIMBP2 Nonsynonymous SNV R629C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 226607 chr19 19033548 19033548 G A rs148028161 DDX49 Synonymous SNV T257T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.23 226608 chr22 37260122 37260122 C T rs1001835888 NCF4 Nonsynonymous SNV S23L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 226609 chr19 19038609 19038609 C G rs144046113 DDX49 Synonymous SNV A379A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.61 226610 chr19 19039064 19039064 G A rs138056361 DDX49 Nonsynonymous SNV R464H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.52 226611 chr19 19042854 19042854 G A rs148721341 HOMER3 Synonymous SNV N171N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.13 226612 chr19 19043836 19043836 C T rs142466606 HOMER3 Nonsynonymous SNV V108I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 226613 chr19 19115119 19115119 G A rs749838570 SUGP2 Synonymous SNV A929A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.818 226614 chr12 132631856 132631856 G A rs375092329 NOC4L Nonsynonymous SNV V126M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 226615 chr12 132635868 132635868 A G NOC4L Nonsynonymous SNV Y343C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 226616 chr12 132824519 132824519 G A GALNT9 Synonymous SNV L341L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.235 226617 chr8 27294717 27294717 G A PTK2B Nonsynonymous SNV E474K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 226618 chr19 4511619 4511619 T C rs77044499 PLIN4 Nonsynonymous SNV M785V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.001 226619 chr19 4511620 4511620 G A rs766995144 PLIN4 Synonymous SNV G784G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 0.575 226620 chr19 21992142 21992142 C T rs140965080 ZNF43 Nonsynonymous SNV E168K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.426 226621 chr19 4529175 4529175 T G PLIN5 Nonsynonymous SNV K144Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 226622 chr4 122681524 122681524 - GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGAT TMEM155 S80delinsRSARLCLPKCWDYRREPPRPA 0.001 0 0 0 1 0 0 0 0 0 0 0 226623 chr22 39122011 39122011 G C GTPBP1 Nonsynonymous SNV R358S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 226624 chr22 40060843 40060843 G - CACNA1I V1221Wfs*37 0.001 0.003 0 0 1 1 0 0 0 0 0 0 226625 chr2 46234737 46234737 C G PRKCE Synonymous SNV A400A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.58 226626 chr18 55328696 55328696 T A rs775827850 ATP8B1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 226627 chr22 41632496 41632496 C T rs1046074288 CHADL Synonymous SNV P685P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.32 226628 chr18 55998036 55998036 C T rs767012351 NEDD4L Nonsynonymous SNV P173S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 226629 chr19 7697663 7697663 G A rs141790809 PCP2 Synonymous SNV G19G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.178 226630 chr19 7807935 7807935 G C rs374114895 CD209 Nonsynonymous SNV P266R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 226631 chr19 36223242 36223242 C T rs201672736 KMT2B Nonsynonymous SNV P1931L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 21.3 226632 chr1 21894692 21894692 C T rs188689330 ALPL Synonymous SNV D171D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 15.38 226633 chr8 67089428 67089428 G A rs759336356 CRH Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 226634 chr1 22168125 22168125 C T rs187525491 HSPG2 Nonsynonymous SNV V3080M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 226635 chr20 20023103 20023103 C T rs778762710 CRNKL1 Nonsynonymous SNV A344T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 226636 chr19 8651289 8651289 C T rs782704779 ADAMTS10 Synonymous SNV S310S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.958 226637 chr8 73142595 73142595 C T LOC392232 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 226638 chr20 20036606 20036606 G A CRNKL1 Nonsynonymous SNV A18V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 226639 chr19 37677492 37677492 T C rs745799357 ZNF585B Nonsynonymous SNV H316R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.28 226640 chr1 225147868 225147868 A C rs765625626 DNAH14 Nonsynonymous SNV E77D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.046 226641 chr7 6661385 6661385 T C rs778503943 ZNF853 Synonymous SNV L240L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.013 226642 chr2 72362407 72362407 G A rs200044057 CYP26B1 Nonsynonymous SNV R116C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 226643 chr1 225707162 225707162 C T rs760106942 ENAH Synonymous SNV R180R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.75 226644 chr20 25457111 25457111 C T rs766474048 NINL Nonsynonymous SNV R939Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.013 226645 chr19 38994892 38994892 G A rs774345283 RYR1 Synonymous SNV K2653K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.53 226646 chr19 9011365 9011365 C T rs145364810 MUC16 Synonymous SNV E12956E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.381 226647 chr19 9012820 9012820 G A rs191266355 MUC16 Nonsynonymous SNV P12875L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 226648 chr19 9046895 9046895 G C MUC16 Nonsynonymous SNV T11579S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.272 226649 chr20 32247707 32247707 G C NECAB3 Synonymous SNV P209P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.292 226650 chr2 86733055 86733055 G T CHMP3, RNF103-CHMP3 Nonsynonymous SNV P115T 0.001 0 0 5 1 0 0.013 0 0 0 0 0 26.3 226651 chr19 9070186 9070186 C T rs1559171 MUC16 Nonsynonymous SNV A5754T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.233 226652 chr19 40901050 40901050 C T rs146222815 PRX Nonsynonymous SNV R1070Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Uncertain significance 23.4 226653 chr1 228548271 228548271 C T rs781383886 OBSCN Nonsynonymous SNV R6560W 0 0 0 1 0 0 0.003 0 0 0 0 0 4.466 226654 chr19 1108456 1108456 G C rs534539470 SBNO2 Synonymous SNV V1231V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.864 226655 chr19 41073854 41073854 C T rs769548808 SPTBN4 Nonsynonymous SNV P2208S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.04 226656 chr20 35288761 35288761 A G rs759141629 NDRG3 Synonymous SNV P267P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.297 226657 chr19 9204248 9204248 G A rs115262881 OR1M1 Nonsynonymous SNV V110M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 226658 chr2 97350177 97350177 C T FER1L5 Nonsynonymous SNV R595W 0 0 0 1 0 0 0.003 0 0 0 0 0 18.64 226659 chr20 3675468 3675468 C T rs373105785 SIGLEC1 Nonsynonymous SNV R929H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 226660 chr19 1828001 1828001 G A rs374073393 REXO1 Nonsynonymous SNV R263C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 226661 chr19 9451836 9451836 G A rs751049492 ZNF559 Synonymous SNV G137G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.62 226662 chr2 99006190 99006190 C T rs763964348 CNGA3 Synonymous SNV T155T 0.007 0 0 1 8 0 0.003 0 0 0 0 0 16.47 226663 chr20 40042067 40042067 G A rs775912225 CHD6 Nonsynonymous SNV T2343M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 226664 chr1 235577825 235577825 G A rs536195712 TBCE Nonsynonymous SNV R88H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 226665 chr7 96651670 96651670 T C DLX5 Nonsynonymous SNV T123A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.849 226666 chr20 43356033 43356033 C T rs539795262 CCN5 Synonymous SNV S197S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.15 226667 chr19 11471984 11471984 G A rs753875447 PLPPR2 Synonymous SNV V136V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 226668 chr7 99690698 99690698 G C MCM7 Nonsynonymous SNV R497G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.07 226669 chrX 53115395 53115395 G A rs144844790 TSPYL2 Synonymous SNV E607E 0.003 0.005 0 2 3 2 0.005 0 1 1 0 0 10.19 226670 chrX 65253392 65253392 C A VSIG4 Synonymous SNV T112T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 226671 chr19 4496321 4496321 C T rs201827223 HDGFL2 Nonsynonymous SNV P416L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 226672 chrX 69772048 69772048 C T rs144951375 TEX11 Synonymous SNV S816S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.517 226673 chr19 45493726 45493726 G A CLPTM1 Synonymous SNV Q388Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 8.078 226674 chr3 11851051 11851051 C T rs139131628 TAMM41 Nonsynonymous SNV V272M 0 0 0 1 0 0 0.003 0 0 0 0 0 28 226675 chr19 4512676 4512676 T A rs59593546 PLIN4 Synonymous SNV T432T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 226676 chr19 4512709 4512709 C G rs575740471 PLIN4 Synonymous SNV G421G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.448 226677 chr8 105235896 105235896 - G rs567070433 RIMS2 Frameshift insertion A9Cfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 226678 chr20 50217842 50217842 C T rs766685373 ATP9A Nonsynonymous SNV V1018I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 226679 chr8 105511662 105511663 TG - LRP12 Stop gain Y100* 0.002 0 0 0 2 0 0 0 0 0 0 0 226680 chr19 15083570 15083570 G T SLC1A6 Synonymous SNV R51R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.599 226681 chrX 85969561 85969561 G T DACH2 Synonymous SNV L301L 0.002 0.003 0 0 2 1 0 0 1 0 0 0 7.252 226682 chr3 119462935 119462935 C T rs144511327 MAATS1 Synonymous SNV A472A 0.004 0 0 3 5 0 0.008 0 0 0 0 0 13.61 226683 chr20 52645047 52645047 C T rs775065320 BCAS1 Nonsynonymous SNV G203R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 226684 chr20 53208249 53208249 C T rs376531309 DOK5 Synonymous SNV D168D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 226685 chr19 5789639 5789639 G A DUS3L Nonsynonymous SNV P160L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 226686 chr3 121350798 121350798 G A rs373474739 HCLS1 Synonymous SNV D415D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.59 226687 chrX 105179166 105179166 C T rs56273831 NRK Synonymous SNV Y1168Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.845 226688 chrX 105280750 105280750 G A SERPINA7 Synonymous SNV L100L 0.002 0.003 0 0 2 1 0 0 1 0 0 0 0.365 226689 chrX 117959901 117959901 C A rs138052030 ZCCHC12 Nonsynonymous SNV P232T 0.002 0.003 0 0 2 1 0 0 1 0 0 0 12.61 226690 chr19 7689206 7689206 C A XAB2 Nonsynonymous SNV E316D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 226691 chrX 123034450 123034450 A G rs764816401 XIAP Nonsynonymous SNV N403D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 226692 chr19 48631177 48631177 C T LIG1 Nonsynonymous SNV R573H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 226693 chr20 60498701 60498701 G A rs142900721 CDH4 Nonsynonymous SNV G486S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 29 226694 chr19 48997138 48997138 C A rs1014068524 LMTK3 Nonsynonymous SNV G1331V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 226695 chr8 125988688 125988688 C A rs78372332 ZNF572 Nonsynonymous SNV P60T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.074 226696 chr19 8167692 8167692 C T rs147989381 FBN3 Nonsynonymous SNV V1669M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.485 226697 chr8 125989432 125989432 A T rs78004199 ZNF572 Nonsynonymous SNV S308C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 226698 chrX 135405128 135405128 A G ADGRG4 Nonsynonymous SNV I88V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.997 226699 chr8 126044593 126044593 T C rs34569226 WASHC5 Synonymous SNV P927P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.364 226700 chr8 126062905 126062905 C T rs148936723 WASHC5 Synonymous SNV V552V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.79 226701 chr8 126079867 126079867 T C rs10429323 WASHC5 Synonymous SNV L267L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.922 226702 chr19 49357519 49357519 C T rs745503640 PLEKHA4 Synonymous SNV P325P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.735 226703 chr19 49385420 49385420 T G TULP2 Nonsynonymous SNV K439T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 226704 chrX 151819009 151819009 G A GABRQ Nonsynonymous SNV M289I 0.002 0.003 0 0 2 1 0 0 1 0 0 0 18.85 226705 chr8 141460909 141460909 T C rs150743393 TRAPPC9 Synonymous SNV V188V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.821 226706 chr1 27436185 27436185 G A rs771170194 SLC9A1 Synonymous SNV F299F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 226707 chr3 129130070 129130070 C T rs117403753 EFCAB12 Synonymous SNV T322T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.56 226708 chr20 62320440 62320440 C T rs116502880 RTEL1 Synonymous SNV A388A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 9.18 226709 chr3 129195600 129195600 G A rs150550701 IFT122 Nonsynonymous SNV S257N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 8.985 226710 chr20 62326958 62326958 C T RTEL1 Synonymous SNV A1259A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 226711 chrX 153700982 153700982 G A rs201267859 PLXNA3 Nonsynonymous SNV R1857Q 0.002 0.003 0 0 2 1 0 0 1 0 0 0 17.76 226712 chr20 62597769 62597769 C T rs368098991 ZNF512B Synonymous SNV P253P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.579 226713 chr3 130202874 130202879 TGCAGA - COL6A5 L2525Ffs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 226714 chr19 52084769 52084769 G A rs148693008 ZNF175 Synonymous SNV V66V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 226715 chr3 134077554 134077554 T C AMOTL2 Synonymous SNV R761R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.482 226716 chr1 35478098 35478098 T C ZMYM6 Nonsynonymous SNV K294E 0 0 0 1 0 0 0.003 0 0 0 0 0 24 226717 chr1 36554537 36554537 G A rs918091972 ADPRHL2 Nonsynonymous SNV G11D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.061 226718 chr9 138390464 138390464 G A rs369272868 C9orf116 Synonymous SNV Y63Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.042 226719 chr19 53770704 53770704 C G rs566861600 VN1R4 Nonsynonymous SNV R72T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 226720 chr10 115349425 115349425 G A rs113590679 NRAP Synonymous SNV Y1660Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.044 226721 chr21 38593389 38593389 G A rs370897098 DSCR9 0 0 0.007 0 0 0 0 2 0 0 0 0 1.019 226722 chr19 54973792 54973792 C T rs145949012 LENG9 Synonymous SNV V328V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.753 226723 chr10 118363552 118363552 T C rs114054985 PNLIPRP1 Synonymous SNV Y358Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 226724 chr21 43543005 43543005 C A rs777903588 UMODL1 Synonymous SNV T1020T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 226725 chr1 44069737 44069737 C T rs150944733 PTPRF Nonsynonymous SNV R963C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 226726 chr19 12059699 12059699 T G rs75607624 ZNF700 Nonsynonymous SNV F290C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 226727 chr19 12187020 12187020 G A rs79356129 ZNF844 Nonsynonymous SNV R362K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 226728 chr1 44605450 44605450 G A KLF18 Synonymous SNV T618T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.121 226729 chr19 13255298 13255298 G A rs748253613 STX10 Nonsynonymous SNV R177C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 226730 chr1 46096234 46096234 T C rs150543184 GPBP1L1 Synonymous SNV E363E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.097 226731 chr9 18776997 18776997 G A rs199730614 ADAMTSL1 Nonsynonymous SNV V924I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.892 226732 chr19 14159804 14159804 G C IL27RA Nonsynonymous SNV V385L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.619 226733 chr21 46067195 46067195 G A rs78821735 KRTAP10-11 Nonsynonymous SNV V274M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 226734 chr8 21769463 21769463 G A DOK2 Stop gain Q128X 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 226735 chr5 115351065 115351065 - ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTC rs760127445 LVRN Stop gain Q857_T990delinsYIYIWN 0.001 0 0 1 1 0 0.003 0 0 0 0 0 226736 chr21 47611144 47611144 G A rs138256269 LSS Synonymous SNV N611N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.826 226737 chr19 56090463 56090463 C T rs532860043 ZNF579 Synonymous SNV T181T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.896 226738 chr19 38573112 38573112 C G rs568659776 SIPA1L3 Nonsynonymous SNV R303G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 226739 chr19 56173888 56173888 C T U2AF2 Synonymous SNV F169F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.76 226740 chr19 39329100 39329100 G A rs147590432 HNRNPL Synonymous SNV H365H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.258 226741 chr19 39361490 39361490 G T rs62640393 RINL Nonsynonymous SNV D248E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.101 226742 chr10 134218338 134218338 G A rs757084491 PWWP2B Nonsynonymous SNV G112R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 226743 chr9 35906553 35906553 - CCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCACCG HRCT1 H105_P106insHHRHHPRHTPHHLHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 226744 chr1 55509621 55509621 C T rs747072726 PCSK9 Nonsynonymous SNV R105W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.1 226745 chr19 57029862 57029862 T G ZNF471 Nonsynonymous SNV S58A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.09 226746 chr19 57325555 57325555 - TGGCTCAGCAGCCTCCACTTC rs754092967 PEG3 P1263_N1264insEVEAAEP 0 0 0 1 0 0 0.003 0 0 0 0 0 226747 chr19 17362816 17362816 G T USHBP1 Nonsynonymous SNV A504D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 226748 chr8 29043991 29043991 - A KIF13B 0.001 0 0 0 1 0 0 0 0 0 0 0 226749 chr22 20780166 20780166 C T SCARF2 Synonymous SNV R704R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 226750 chr8 3000049 3000049 G A CSMD1 Nonsynonymous SNV T2060I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 226751 chr19 17452441 17452441 C T rs188860078 GTPBP3 Nonsynonymous SNV R502W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 226752 chr19 17476933 17476933 G T rs34920409 PLVAP Nonsynonymous SNV F147L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 226753 chr8 36788597 36788597 G C rs190224798 KCNU1 Nonsynonymous SNV L955F 0.002 0 0 0 2 0 0 0 0 0 0 0 2.513 226754 chr3 194373686 194373686 - TCC LSG1 E315_D316insE 0.002 0 0 2 2 0 0.005 0 0 0 0 0 226755 chr19 18377625 18377625 G A rs138854310 IQCN Nonsynonymous SNV T242M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 226756 chr8 55047894 55047894 G C MRPL15 Synonymous SNV R17R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.14 226757 chr1 67724610 67724610 A G rs113943721 IL23R Nonsynonymous SNV I563M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.047 226758 chr10 28884919 28884919 A G WAC Nonsynonymous SNV K290E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 226759 chr19 24116488 24116488 C T ZNF726 Synonymous SNV L524L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.399 226760 chr19 45822909 45822909 G A rs138224618 CKM Synonymous SNV P21P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.553 226761 chr22 37397969 37397969 G A rs139790694 TEX33 Nonsynonymous SNV T133M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.342 226762 chr8 95768276 95768283 AAGAATTG - DPY19L4 R209Ifs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 226763 chr19 35758443 35758443 C T rs754851086 LSR Nonsynonymous SNV P466S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 226764 chr19 49132082 49132082 C T SPHK2 Synonymous SNV F303F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 226765 chr3 40503521 40503532 CTGCTGCTGCTG - RPL14 A156_A159del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 226766 chr3 40503532 40503532 - CTGCTG RPL14 A159_K160insAA 0 0 0 1 0 0 0.003 0 0 0 0 0 226767 chr20 10033846 10033846 C T ANKEF1 Nonsynonymous SNV P653S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.9 226768 chr9 101747879 101747879 C A rs377632543 COL15A1 Nonsynonymous SNV Q45K 0.004 0 0 0 5 0 0 0 0 0 0 0 12.69 226769 chr19 37309942 37309942 G A rs551820063 ZNF790 Nonsynonymous SNV S435L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 226770 chr22 42191441 42191441 C T rs375270015 MEI1 Synonymous SNV V1187V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.977 226771 chr22 42473913 42473913 G A rs778256121 PHETA2 Nonsynonymous SNV A206T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 226772 chr22 42605843 42605843 G A TCF20 Synonymous SNV D1823D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.882 226773 chr9 106875613 106875613 A G rs564129335 SMC2 Nonsynonymous SNV K424R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 226774 chrX 152585509 152585509 G A rs68154694 PNMA6F Synonymous SNV G208G 0.009 0 0 2 10 0 0.005 0 3 0 0 1 1.459 226775 chrX 152722088 152722088 G A rs782765806 HAUS7 Synonymous SNV D166D 0.004 0 0 0 5 0 0 0 2 0 0 0 6.276 226776 chrX 153296208 153296208 G A rs61750236 MECP2 Synonymous SNV S369S 0.003 0 0 0 4 0 0 0 2 0 0 0 Benign/Likely benign 5.53 226777 chrX 22291942 22291942 G A rs138094158 CBLL2 Synonymous SNV Q278Q 0.003 0 0 0 3 0 0 0 1 0 0 0 0.187 226778 chr19 39214594 39214594 G A rs749535439 ACTN4 Synonymous SNV L523L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 226779 chr20 13763658 13763658 A G rs778005727 ESF1 Synonymous SNV H43H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.002 226780 chr22 46505159 46505159 C T rs367888840 MIRLET7BHG 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 226781 chr22 46763691 46763691 G A rs375533703 CELSR1 Synonymous SNV L2672L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 226782 chr19 40023187 40023187 C T rs764740279 EID2B Nonsynonymous SNV A86T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 226783 chr9 116267745 116267745 C T rs758660550 RGS3 Synonymous SNV D26D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 226784 chr3 47459210 47459210 G A rs369093642 SCAP Nonsynonymous SNV P596S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.01 226785 chr9 116930333 116930333 C T COL27A1 Synonymous SNV R166R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.533 226786 chr19 40364040 40364040 C T rs771458502 FCGBP Nonsynonymous SNV D4868N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 226787 chr20 18296449 18296449 G A ZNF133 Synonymous SNV R299R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.706 226788 chr22 50926760 50926760 G A rs140970258 MIOX Nonsynonymous SNV G133R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 226789 chr9 117825403 117825403 A G TNC Nonsynonymous SNV W1276R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 226790 chr19 41700581 41700581 G A rs141962525 CYP2S1 Nonsynonymous SNV V104I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 226791 chr20 36393602 36393602 G A CTNNBL1 Nonsynonymous SNV D190N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 226792 chr19 52216874 52216874 C A rs199658827 HAS1 Nonsynonymous SNV G514W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 226793 chrX 66765149 66765151 TGC - rs764402637 AR L57del 0.003 0 0 0 4 0 0 0 2 0 0 0 226794 chr19 42221434 42221434 C A rs10407503 CEACAM5 Nonsynonymous SNV A340D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.372 226795 chr2 103090347 103090347 C T rs760069585 SLC9A4 Synonymous SNV N43N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.196 226796 chr2 104995513 104995513 C G rs72933695 LOC100287010 0 0 0.014 0 0 0 0 4 0 0 0 0 2.184 226797 chr3 52819241 52819241 A - ITIH1 H242Lfs*9 0.001 0 0 1 1 0 0.003 0 0 0 0 0 226798 chr20 43058267 43058267 A G rs147638455 HNF4A Nonsynonymous SNV I463V 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 15.18 226799 chr19 44102999 44102999 G A rs367617222 ZNF576 Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 226800 chr10 100012165 100012165 C T LOXL4 Synonymous SNV K632K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.98 226801 chr19 53086374 53086374 C - rs774902690 ZNF701 Stop gain Y354* 0.001 0 0 0 1 0 0 0 0 0 0 0 226802 chr2 113832371 113832371 G A rs371158051 IL1F10 Nonsynonymous SNV G64R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 226803 chr3 64132947 64132947 T C PRICKLE2 Nonsynonymous SNV M407V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.245 226804 chr3 65464358 65464358 G C rs765346622 MAGI1 Synonymous SNV T222T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.818 226805 chr10 104173622 104173622 T G rs200141401 PSD Nonsynonymous SNV E486A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.74 226806 chr20 3208490 3208490 C T rs771230452 SLC4A11 Synonymous SNV L819L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.02 226807 chr19 44981999 44981999 T C rs148363174 ZNF180 Synonymous SNV V208V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 226808 chr20 32883384 32883384 G A rs78150651 AHCY Synonymous SNV I12I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.816 226809 chr9 131019428 131019428 C T rs769354633 GOLGA2 Nonsynonymous SNV R964H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 226810 chr20 33862287 33862287 G A rs368386809 MMP24 Nonsynonymous SNV V605M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 226811 chr20 34208869 34208869 G A rs34962502 SPAG4 Synonymous SNV T336T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.45 226812 chr19 46318293 46318293 G A rs61730713 RSPH6A Nonsynonymous SNV P48S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 226813 chr20 52789467 52789469 CTT - rs777676129 CYP24A1 E143del 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 226814 chr19 47535548 47535548 G A rs138366096 NPAS1 Nonsynonymous SNV R124H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 226815 chr19 55870558 55870558 G T rs557323775 FAM71E2 Nonsynonymous SNV L560I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.001 226816 chr20 4229224 4229224 C T rs141413932 ADRA1D Synonymous SNV L127L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 226817 chr19 55994507 55994507 G A ZNF628 Synonymous SNV T649T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.071 226818 chr2 141457990 141457990 A T rs759438391 LRP1B Nonsynonymous SNV S2210T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 226819 chr20 60895695 60895695 - GCGGGGGCC rs770156081 LAMA5 R2226_H2227insGPR 0 0 0 1 0 0 0.003 0 0 0 0 0 226820 chr19 48653362 48653362 G A rs760552864 LIG1 Nonsynonymous SNV T159M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 226821 chr9 136251463 136251463 G A rs145815775 STKLD1 Synonymous SNV T94T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 226822 chr20 44578950 44578950 - G rs779294471 ZNF335 Frameshift insertion K1132Tfs*23 0.002 0 0 2 2 0 0.005 0 0 0 0 0 226823 chr20 44578952 44578955 CCTC - rs748673453 ZNF335 R1131Sfs*20 0.002 0 0 2 2 0 0.005 0 0 0 0 0 226824 chr20 44578956 44578956 C G rs770306876 ZNF335 Nonsynonymous SNV G1130A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.27 226825 chr20 46331383 46331383 G A rs142034306 SULF2 Synonymous SNV N149N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 226826 chr20 61638125 61638125 A C rs983885327 BHLHE23 Star tloss M1? 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.873 226827 chr19 56739649 56739649 C T ZSCAN5A Synonymous SNV E43E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.03 226828 chr9 139617641 139617641 C T rs374278535 DIPK1B Synonymous SNV G237G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.127 226829 chr9 139617669 139617670 CT - rs764629898 DIPK1B L247Vfs*50 0.002 0 0 0 2 0 0 0 0 0 0 0 226830 chr19 49812930 49812930 T C rs367909942 SLC6A16 Nonsynonymous SNV N285S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 226831 chr4 120221771 120221781 CTGAGCGGAGT - C4orf3 L104Ffs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 226832 chr2 175432671 175432671 A T WIPF1 Synonymous SNV P420P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.319 226833 chr2 175939426 175939426 G C ATF2 Nonsynonymous SNV L419V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 226834 chr20 57782053 57782053 C T rs370272765 ZNF831 Synonymous SNV P1323P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 226835 chr19 50957346 50957346 A G rs779002376 MYBPC2 Nonsynonymous SNV S607G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 226836 chr11 104879686 104879686 - T rs771539338 CASP5 Frameshift insertion R23Kfs*3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 226837 chr4 1348545 1348545 C T rs373061652 UVSSA Synonymous SNV N319N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.573 226838 chr2 179460498 179460498 T G rs757544346 TTN Nonsynonymous SNV N10130H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 226839 chr21 34882197 34882197 A G rs147122322 GART Nonsynonymous SNV I782T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.62 226840 chr9 2646342 2646342 T C rs372468631 VLDLR Nonsynonymous SNV I457T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.2 226841 chr21 37618389 37618389 G A rs763772038 DOP1B Nonsynonymous SNV V1371M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.1 226842 chr21 40193571 40193571 G A rs776691299 ETS2 Synonymous SNV Q379Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.668 226843 chr2 179650587 179650587 G C rs199507913 TTN Nonsynonymous SNV H740Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.83 226844 chr21 42851157 42851157 A T rs150554820 TMPRSS2 Nonsynonymous SNV F246I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.9 226845 chr20 62197753 62197753 G A rs946955526 HELZ2 Synonymous SNV V287V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.35 226846 chr19 53311214 53311214 A C rs779892129 ZNF28 Nonsynonymous SNV F63C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.036 226847 chr11 119061077 119061077 T C rs147822002 CCDC153 Nonsynonymous SNV K189E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.6 226848 chr19 53854728 53854728 G A ZNF845 Nonsynonymous SNV G267D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 226849 chr19 53855651 53855651 A G rs182252011 ZNF845 Nonsynonymous SNV I575V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.487 226850 chr11 120989280 120989280 T C rs756698067 TECTA Synonymous SNV C352C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 226851 chr21 45928785 45928785 C T TSPEAR-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.165 226852 chr19 54848171 54848171 C A rs144561009 LILRA4 Nonsynonymous SNV R399L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.915 226853 chr2 198646549 198646549 G T rs141986181 BOLL Nonsynonymous SNV S15Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 226854 chr21 33689156 33689156 G A rs139492775 URB1 Synonymous SNV P2085P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.656 226855 chr20 24954336 24954336 T C rs144062163 APMAP Synonymous SNV V122V 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.552 226856 chr19 55798430 55798430 C T rs141208516 BRSK1 Synonymous SNV I64I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 226857 chr11 124955881 124955881 T G rs749988458 SLC37A2 Nonsynonymous SNV L486W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 226858 chr9 86616901 86616901 A G rs112455581 RMI1 Nonsynonymous SNV K334E 0.002 0 0.014 0 2 0 0 4 0 0 0 0 0.001 226859 chr19 55912933 55912933 G A rs547183178 UBE2S Synonymous SNV T180T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.587 226860 chr2 206587249 206587249 G C NRP2 Nonsynonymous SNV E161Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 226861 chr20 31891775 31891775 G A rs149569639 BPIFB1 Synonymous SNV S384S 0.001 0 0 0 1 0 0 0 0 0 0 0 13 226862 chr19 56388493 56388493 G A rs757456098 NLRP4 Nonsynonymous SNV R886Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 226863 chr9 98278946 98278946 C G rs185570125 PTCH1 Nonsynonymous SNV E53Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.146 226864 chr2 209315527 209315527 G C rs201254276 PTH2R Nonsynonymous SNV D192H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 226865 chr2 211018264 211018264 G T rs745523173 KANSL1L Nonsynonymous SNV S348Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 226866 chr20 35812757 35812757 C T rs144538512 RPN2 Nonsynonymous SNV A63V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21 226867 chr20 36631128 36631128 C T rs770024797 TTI1 Nonsynonymous SNV V852M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 226868 chr20 40743914 40743914 G A rs369837092 PTPRT Synonymous SNV Y1008Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.929 226869 chr4 367201 367201 C A rs111394409 ZNF141 Synonymous SNV T249T 0 0 0 2 0 0 0.005 0 0 0 0 0 22 226870 chr22 24034867 24034867 C T rs201379749 RGL4 Nonsynonymous SNV R129C 0 0 0 2 0 0 0.005 0 0 0 0 0 13.74 226871 chr19 57640175 57640175 T C rs757418107 USP29 Synonymous SNV S44S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.15 226872 chr19 57642734 57642734 C A rs755775107 USP29 Nonsynonymous SNV N897K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.516 226873 chr22 24810611 24810611 C T rs200422963 SPECC1L-ADORA2A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.189 226874 chr2 219603402 219603402 C T rs765087705 TTLL4 Nonsynonymous SNV R335W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 226875 chr11 17474779 17474779 C T rs145136257 ABCC8 Nonsynonymous SNV A355T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 226876 chr19 57840225 57840225 C T rs111317529 ZNF543 Synonymous SNV D465D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 226877 chr19 57840498 57840498 T C rs112132140 ZNF543 Synonymous SNV I556I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.344 226878 chr2 220136384 220136384 T C rs533362502 TUBA4B Nonsynonymous SNV L230S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.188 226879 chr2 220167475 220167475 C T rs753930510 PTPRN Synonymous SNV Q154Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.185 226880 chr11 17655812 17655812 C T rs774023506 OTOG Synonymous SNV C2500C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 226881 chr22 29659996 29659996 T C rs138725360 RHBDD3 Synonymous SNV G120G 0.003 0.005 0.007 1 3 2 0.003 2 0 0 0 0 2.584 226882 chr11 18101998 18101998 G A rs780415087 SAAL1 Nonsynonymous SNV A458V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.164 226883 chr19 58117114 58117114 A C rs111675758 ZNF530 Nonsynonymous SNV E74A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 226884 chr19 58117413 58117413 G A rs111634535 ZNF530 Nonsynonymous SNV G174R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 226885 chr19 58117677 58117677 G A rs9676259 ZNF530 Nonsynonymous SNV G262S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.11 226886 chr20 50048657 50048657 G A rs770338559 NFATC2 Nonsynonymous SNV A870V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 226887 chr20 52188376 52188376 T A rs36029677 ZNF217 Synonymous SNV S1018S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.02 226888 chr20 52192453 52192453 G A rs11906913 ZNF217 Synonymous SNV G950G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.304 226889 chr19 58757711 58757711 G A rs61732962 ZNF544 Synonymous SNV E26E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.535 226890 chr19 58772763 58772763 T C rs137905283 ZNF544 Nonsynonymous SNV F236S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.673 226891 chr19 58773967 58773967 - G ZNF544 Frameshift insertion K639Efs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 226892 chrX 149013643 149013643 G A rs5983915 MAGEA8 Synonymous SNV T199T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.99 226893 chr15 56657843 56657843 C T rs35032088 TEX9 Nonsynonymous SNV L32F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 226894 chr19 58863623 58863623 C A A1BG-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.324 226895 chr19 58868621 58868621 C T rs145735339 ZNF497 Synonymous SNV V127V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 226896 chr10 79769637 79769637 C T rs34019581 POLR3A Synonymous SNV P585P 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 17.55 226897 chr20 57244395 57244395 C T rs141068956 STX16 Nonsynonymous SNV R144W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 226898 chr22 33670429 33670429 G C rs200024875 LARGE1 Nonsynonymous SNV A752G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.2 226899 chr22 35820175 35820175 T C rs149737572 MCM5 Nonsynonymous SNV V711A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21 226900 chr22 21341838 21341838 G A rs367767120 LZTR1 Synonymous SNV S122S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.4 226901 chr11 3114860 3114860 C T rs764806036 OSBPL5 Nonsynonymous SNV G547R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 226902 chr11 32956418 32956418 C T rs372319291 QSER1 Nonsynonymous SNV A1205V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.762 226903 chrX 38158278 38158278 C G rs149742786 RPGR Synonymous SNV P392P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.37 226904 chr20 5559122 5559122 C T rs141415828 GPCPD1 Synonymous SNV P203P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.05 226905 chr22 26859917 26859917 G A rs143902143 HPS4 Nonsynonymous SNV P555L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.44 226906 chr22 26937592 26937592 C T TPST2 Nonsynonymous SNV R2H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 226907 chrX 48403397 48403397 G A rs781829758 TBC1D25 Nonsynonymous SNV R141Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 226908 chr11 40136434 40136434 C T rs74858686 LRRC4C Nonsynonymous SNV R470Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 226909 chrX 49061669 49061669 G A rs138189763 CACNA1F Synonymous SNV D1943D 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign 3.486 226910 chr2 242011101 242011101 C A SNED1 Nonsynonymous SNV H1234N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 226911 chr20 13839963 13839963 G A rs140768797 SEL1L2 Nonsynonymous SNV A588V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.7 226912 chr2 24426595 24426595 T C ITSN2 Nonsynonymous SNV K1625R 0 0 0.003 0 0 0 0 1 0 0 0 0 22 226913 chrX 69719093 69719093 C T rs759272110 DLG3 Synonymous SNV S195S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.87 226914 chr22 31494716 31494716 G A rs760245628 SMTN Synonymous SNV R797R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.66 226915 chr21 32624408 32624408 T C rs771506998 TIAM1 Nonsynonymous SNV N354S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.134 226916 chr22 45795230 45795230 C T rs371111515 SMC1B Synonymous SNV S286S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.493 226917 chr11 47364633 47364633 G A rs200664621 MYBPC3 Synonymous SNV D430D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.612 226918 chr4 85611718 85611718 C T rs374371115 WDFY3 Nonsynonymous SNV V3102M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.2 226919 chr21 34617375 34617375 A G rs142850110 IFNAR2 Nonsynonymous SNV M73V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 226920 chr22 50657803 50657803 G A rs142496306 TUBGCP6 Synonymous SNV A1466A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.51 226921 chr20 30227738 30227738 C T rs745869483 COX4I2 Nonsynonymous SNV R29C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 226922 chr11 1018274 1018274 G C rs79073076 MUC6 Synonymous SNV T1509T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.434 226923 chr11 1018297 1018297 T C rs763946754 MUC6 Nonsynonymous SNV I1502V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 226924 chr21 42617980 42617980 G A rs375722579 BACE2 Nonsynonymous SNV R325H 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 226925 chr11 1018326 1018326 G T rs370957489 MUC6 Nonsynonymous SNV A1492D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 226926 chr4 95197625 95197625 T C rs79901365 SMARCAD1 Synonymous SNV N218N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.22 226927 chr11 1018327 1018327 C T rs75068039 MUC6 Nonsynonymous SNV A1492T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 226928 chr22 50944864 50944864 G A rs200084182 LMF2 Nonsynonymous SNV R124C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 226929 chr20 31572953 31572953 C A rs201338964 SUN5 Synonymous SNV G312G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 226930 chr22 41320485 41320485 C T rs757713515 XPNPEP3 Synonymous SNV P452P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.934 226931 chr5 110835762 110835762 C T rs146729717 STARD4 Nonsynonymous SNV R49Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 226932 chr2 44102302 44102302 G A rs145756111 ABCG8 Synonymous SNV P501P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 8.94 226933 chrX 44094564 44094564 T C rs368484783 EFHC2 Nonsynonymous SNV I470M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.611 226934 chrX 48546764 48546764 G A WAS Nonsynonymous SNV E285K 0.002 0 0 1 2 0 0.003 0 1 0 0 0 24.4 226935 chr20 44277904 44277904 T C rs754524617 WFDC11 Nonsynonymous SNV I79V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 226936 chr2 5833885 5833896 CAGCAGCAGCGG - rs755419138 SOX11 S351_S354del 0 0 0.003 0 0 0 0 1 0 0 0 0 226937 chr22 50355315 50355315 G A PIM3 Nonsynonymous SNV V158M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 226938 chrX 69354485 69354485 C T IGBP1 Nonsynonymous SNV H101Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 226939 chrX 69460026 69460026 C T rs61750915 AWAT1 Synonymous SNV S291S 0.002 0.005 0.003 6 2 2 0.015 1 1 1 0 2 Benign 10.48 226940 chrX 69898729 69898729 T C rs762074736 TEX11 Synonymous SNV T389T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.253 226941 chrX 72783271 72783288 GAGGAGGAAGAGGAGGAG - CHIC1 E63_E68del 0 0 0 1 0 0 0.003 0 0 0 0 0 226942 chr22 50727965 50727965 T C rs761396649 PLXNB2 Nonsynonymous SNV Q350R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.01 226943 chrX 78203356 78203356 G A P2RY10 Nonsynonymous SNV A12T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.724 226944 chr20 49212798 49212798 T A rs116264080 RIPOR3 Nonsynonymous SNV K598M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.873 226945 chr22 51159123 51159123 G C SHANK3 Synonymous SNV L1015L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.019 226946 chr2 71429609 71429609 C T rs750648829 PAIP2B Nonsynonymous SNV M37I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 226947 chr2 72958324 72958324 A G EXOC6B Synonymous SNV N13N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.355 226948 chr2 73993616 73993616 T G DUSP11 Synonymous SNV L288L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.292 226949 chrX 106843645 106843645 C T rs369613160 FRMPD3 Synonymous SNV H825H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.919 226950 chrX 107316041 107316041 G A rs150942663 VSIG1 Nonsynonymous SNV V183M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.055 226951 chr2 102959569 102959569 G C rs778910308 IL1RL1 Nonsynonymous SNV Q135H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.101 226952 chrX 108906546 108906546 A G rs201894895 ACSL4 Synonymous SNV N533N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.639 226953 chrX 110495588 110495588 C T rs758227137 CAPN6 Nonsynonymous SNV G216R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 226954 chrX 110555963 110555963 T G rs770799939 DCX Synonymous SNV A392A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 9.71 226955 chrX 110987997 110988005 CCTCCTCCT - rs747655210 ALG13 P943_P945del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 226956 chr22 21799850 21799850 C T rs554365948 HIC2 Synonymous SNV G222G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.208 226957 chr22 21983619 21983619 G T YDJC Nonsynonymous SNV H134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 226958 chr20 60886272 60886272 C A rs112963711 LAMA5 Nonsynonymous SNV G3345V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 226959 chr2 108994864 108994864 G A rs748381612 SULT1C4 Nonsynonymous SNV G24E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 226960 chr22 21989179 21989179 T A rs76090341 CCDC116 Nonsynonymous SNV I276N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.4 226961 chr22 22035664 22035664 C T rs35412833 PPIL2 Synonymous SNV N124N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 19.15 226962 chr2 86426619 86426619 T A MRPL35 Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.596 226963 chr2 95953165 95953165 C T rs763160335 PROM2 Nonsynonymous SNV R733W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 226964 chr22 24466971 24466971 G A rs560545763 CABIN1 Nonsynonymous SNV R768Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 226965 chr2 97526458 97526458 C T SEMA4C Nonsynonymous SNV G803R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 226966 chr5 145008 145008 C T rs373035855 PLEKHG4B Synonymous SNV A626A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.13 226967 chr2 11960588 11960588 G A rs557485971 LPIN1 Nonsynonymous SNV V821I 0 0 0 1 0 0 0.003 0 0 0 0 0 34 226968 chr22 29191531 29191531 G A rs372216304 XBP1 Nonsynonymous SNV R255C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 226969 chr11 57080953 57080953 C T rs141972171 TNKS1BP1 Synonymous SNV T403T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 226970 chrX 153590653 153590653 G A rs188212919 FLNA Synonymous SNV D871D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.272 226971 chr3 113049018 113049018 G A CFAP44 Synonymous SNV N1371N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.749 226972 chr11 5878550 5878550 C T rs201800368 OR52E8 Nonsynonymous SNV R128H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 226973 chr3 11600873 11600873 C T rs201909827 VGLL4 Synonymous SNV S98S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 226974 chr2 141202204 141202204 G A rs761544976 LRP1B Nonsynonymous SNV L3368F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 226975 chr11 59189646 59189646 T A OR5A2 Nonsynonymous SNV M261L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.828 226976 chr21 34927047 34927047 G A rs200910529 SON Nonsynonymous SNV R1837H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 226977 chr1 26671084 26671084 G A CRYBG2 Nonsynonymous SNV P689S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.741 226978 chr21 35791765 35791765 G A rs17743849 SMIM34A Synonymous SNV I57I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.45 226979 chr21 37442328 37442328 G C rs920390177 LOC100133286 0.001 0 0 0 1 0 0 0 0 0 0 0 6.282 226980 chr11 16816482 16816482 A G rs367650459 PLEKHA7 Synonymous SNV I831I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.312 226981 chr16 4391473 4391473 C T rs143616972 CORO7-PAM16, PAM16 Nonsynonymous SNV A41T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 226982 chr2 152581979 152581979 A T NEB Nonsynonymous SNV D130E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.52 226983 chr2 152955490 152955490 C T rs754380009 CACNB4 Synonymous SNV A12A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 226984 chr2 159517894 159517894 G A rs373539347 PKP4 Nonsynonymous SNV E715K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 226985 chr3 12421272 12421272 C T rs372494308 PPARG Nonsynonymous SNV S23F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 226986 chr22 41926798 41926798 C A POLR3H Nonsynonymous SNV V123L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 226987 chr11 18591820 18591820 C T rs374766407 UEVLD Nonsynonymous SNV G78R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 226988 chr22 42610775 42610775 - TGC rs753018257 TCF20 Q179_V180insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 226989 chr2 163134176 163134176 C T rs200945986 IFIH1 Nonsynonymous SNV R598H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.2 226990 chr21 43309334 43309334 T C rs759247971 C2CD2 Nonsynonymous SNV R509G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 226991 chr2 165561529 165561529 C G COBLL1 Nonsynonymous SNV K361N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 226992 chr2 166019226 166019226 G A SCN3A Synonymous SNV F269F 0 0 0 1 0 0 0.003 0 0 0 0 0 5.397 226993 chr3 129140359 129140359 G A rs201014037 EFCAB12 Nonsynonymous SNV R113W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 226994 chr21 45503097 45503097 G T TRAPPC10 Nonsynonymous SNV V251L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 226995 chr21 45846963 45846963 G A rs763895742 TRPM2 Nonsynonymous SNV G1315R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 226996 chr3 133209902 133209902 T C rs78735133 BFSP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.382 226997 chr11 64444468 64444468 A G NRXN2 Synonymous SNV Y398Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 226998 chr2 170606074 170606074 C T rs138496066 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV A503A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.19 226999 chr22 50589218 50589218 G T rs201713542 MOV10L1 Nonsynonymous SNV A55S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 24.9 227000 chr2 175437066 175437066 C T rs150498191 WIPF1 Nonsynonymous SNV G156D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 227001 chr2 175982788 175982788 G A rs775754118 ATF2 Nonsynonymous SNV P68L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 227002 chr22 51123015 51123015 G A SHANK3 Synonymous SNV V397V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 227003 chr11 65305450 65305450 G A rs199946104 SCYL1 Nonsynonymous SNV D665N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.603 227004 chr5 180674134 180674134 G T rs748985902 CTC-338M12.4 0 0 0 1 0 0 0.003 0 0 0 0 0 8.04 227005 chr3 14444136 14444136 G A rs867828290 SLC6A6 Nonsynonymous SNV E15K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 227006 chr11 65409737 65409737 C T rs757284297 SIPA1 Synonymous SNV F232F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 227007 chr2 179399071 179399071 G A rs140319117 TTN Nonsynonymous SNV R25026W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 227008 chr1 44360096 44360096 G A rs767108992 ST3GAL3 Nonsynonymous SNV R68H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.3 227009 chr3 149508624 149508624 A C ANKUB1 Nonsynonymous SNV W60G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 227010 chr3 150289771 150289771 G A rs574153109 EIF2A Nonsynonymous SNV V219I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 227011 chrX 12736383 12736383 A C rs139151624 FRMPD4 Nonsynonymous SNV Q1106H 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 23.3 227012 chr1 45960825 45960825 G A CCDC163 Nonsynonymous SNV A115V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 227013 chr11 6588427 6588427 G A rs747384049 DNHD1 Synonymous SNV E3896E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.207 227014 chr11 43923101 43923101 T C rs758957781 ALKBH3 Synonymous SNV I165I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.853 227015 chr1 46509493 46509493 T C rs761096237 LOC110117498-PIK3R3, PIK3R3 Nonsynonymous SNV Y257C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 227016 chrX 31747837 31747837 C T rs151244052 DMD Nonsynonymous SNV R64H 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 26.1 227017 chr2 179641112 179641112 C A rs141213991 TTN Nonsynonymous SNV A1781S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.1 227018 chr3 171405221 171405221 G A PLD1 Stop gain Q565X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 227019 chr3 171410141 171410141 C T rs146936145 PLD1 Nonsynonymous SNV R440H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.69 227020 chr3 172476780 172476780 T G rs200696233 ECT2 Nonsynonymous SNV F135C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 227021 chrX 79999747 79999747 T G rs142085721 BRWD3 Synonymous SNV S199S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 5.058 227022 chr22 30125489 30125489 C T rs371482198 CABP7 Synonymous SNV F193F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 227023 chr22 31266515 31266515 C T rs770719701 OSBP2 Nonsynonymous SNV T60M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 227024 chr3 186274550 186274550 G A TBCCD1 Synonymous SNV Y73Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.948 227025 chr10 23408315 23408315 A C MSRB2 Nonsynonymous SNV T127P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.07 227026 chr2 191859789 191859789 C T STAT1 Synonymous SNV Q314Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.16 227027 chr3 186917382 186917382 G C rs61732291 RTP1 Nonsynonymous SNV V106L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 227028 chr3 187447753 187447753 C T rs760727857 BCL6 Nonsynonymous SNV R147Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 227029 chr22 36678817 36678817 G A rs772986357 MYH9 Nonsynonymous SNV P1927L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 227030 chr22 37333463 37333463 C T CSF2RB Nonsynonymous SNV T538I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 227031 chr3 193082053 193082053 C T rs78621247 ATP13A5 Nonsynonymous SNV R27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.356 227032 chr10 29813457 29813457 T G SVIL Synonymous SNV R418R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.747 227033 chr1 67861629 67861629 G A rs143899990 IL12RB2 Nonsynonymous SNV A730T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.001 227034 chr3 194159631 194159631 G A ATP13A3 Nonsynonymous SNV P594L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 227035 chr22 38119290 38119290 G A TRIOBP Nonsynonymous SNV A243T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 227036 chr2 202438988 202438988 G T rs768247107 C2CD6 Nonsynonymous SNV L233M 0 0 0 1 0 0 0.003 0 0 0 0 0 1.991 227037 chr10 35842102 35842102 G A rs147046743 CCNY Synonymous SNV T112T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.59 227038 chr2 204354309 204354309 C T rs149371856 RAPH1 Nonsynonymous SNV E244K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 227039 chr3 197402057 197402057 C T rs200116207 RUBCN Synonymous SNV A917A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.88 227040 chr3 197562588 197562588 C T rs370550385 LRCH3 Synonymous SNV T382T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 227041 chr3 33087650 33087650 T C rs766801983 GLB1 Nonsynonymous SNV T213A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 227042 chr5 79375926 79375926 C T rs755462750 CTD-2201I18.1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.012 227043 chr3 33759353 33759353 G C rs377245587 CLASP2 Nonsynonymous SNV L48V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 227044 chr3 35835402 35835402 A G ARPP21 Synonymous SNV R778R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.228 227045 chr11 94911920 94911920 T C rs753452799 SESN3 Nonsynonymous SNV D198G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 227046 chr2 210560794 210560794 T C MAP2 Synonymous SNV D1296D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 227047 chr11 95826052 95826052 C A rs201509772 MAML2 Nonsynonymous SNV Q381H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 227048 chr11 96117357 96117357 T C rs377180171 CCDC82 Synonymous SNV L185L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.688 227049 chr12 101017751 101017751 G A rs143544486 GAS2L3 Nonsynonymous SNV G390S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 227050 chr2 213878539 213878539 T G rs746687299 IKZF2 Nonsynonymous SNV S278R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 227051 chr3 39125701 39125701 G A rs771548405 WDR48 Nonsynonymous SNV R328K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 227052 chr3 39449953 39449953 A G rs747622236 SNORA6 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 227053 chr3 42265223 42265223 A G rs376851043 TRAK1 Synonymous SNV L857L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.073 227054 chr3 42705925 42705925 C T rs569497169 ZBTB47 Synonymous SNV G693G 0 0 0.007 0 0 0 0 2 0 0 0 0 12.31 227055 chr12 107219561 107219561 G A rs775824430 RIC8B Nonsynonymous SNV V251I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 227056 chr10 61496919 61496919 - AGT MRLN T13_P14insT 0.001 0.003 0 0 1 1 0 0 0 0 0 0 227057 chr10 61496958 61496967 TATCCAGAAT - MRLN Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 227058 chr10 62551939 62551939 A G rs370173780 CDK1 Synonymous SNV P172P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 7.948 227059 chr12 108043046 108043046 A G rs141259725 BTBD11 Nonsynonymous SNV M533V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.8 227060 chr22 50943862 50943862 A C LMF2 Nonsynonymous SNV W316G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 227061 chr10 70101775 70101775 C T rs367996402 HNRNPH3 Synonymous SNV G227G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.59 227062 chr7 1594913 1594913 T C TMEM184A Nonsynonymous SNV T70A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.04 227063 chr12 11150371 11150371 C T rs116400924 TAS2R20 Stop gain W35X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 227064 chrX 10104754 10104754 C T rs56399961 WWC3 Nonsynonymous SNV R949C 0.003 0 0.007 0 3 0 0 2 1 0 1 0 Benign 29.8 227065 chrX 10535021 10535021 G A MID1 Synonymous SNV T189T 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 8.363 227066 chrX 12904292 12904292 T A rs55907843 TLR7 Nonsynonymous SNV V222D 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.032 227067 chr6 116264301 116264301 C T rs201753000 FRK Synonymous SNV P396P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.81 227068 chr6 116442897 116442897 C T rs142463796 COL10A1 Nonsynonymous SNV D128N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 17.21 227069 chr3 50255218 50255218 C G rs778842181 SLC38A3 Synonymous SNV V267V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.681 227070 chr2 228846541 228846541 G A rs61752220 SPHKAP Synonymous SNV S1636S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.65 227071 chr11 57076872 57076872 C T rs147880473 TNKS1BP1 Nonsynonymous SNV G1105R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.09 227072 chr3 52833794 52833794 T - ITIH3 L311Rfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 227073 chr1 150116994 150116994 G A rs782461254 VPS45 Synonymous SNV G504G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.462 227074 chr10 129903638 129903638 C T rs766223566 MKI67 Nonsynonymous SNV G1796S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.101 227075 chrX 53117104 53117104 A G rs181418147 TSPYL2 Nonsynonymous SNV R689G 0.002 0 0 0 2 0 0 0 1 0 0 0 14.35 227076 chr1 150549849 150549849 G C rs148874038 MCL1 Synonymous SNV A269A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 227077 chr11 58978445 58978445 G A rs913852918 MPEG1 Synonymous SNV L632L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.365 227078 chr1 151377467 151377467 C T POGZ Synonymous SNV E1253E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.686 227079 chr2 234591312 234591312 T C rs140179150 UGT1A7 Synonymous SNV D243D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 227080 chr1 152324013 152324013 A G rs552484311 FLG2 Synonymous SNV A2083A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 227081 chr1 152324014 152324014 G C rs144210410 FLG2 Nonsynonymous SNV A2083G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 227082 chr6 135748397 135748397 C T rs200816459 AHI1 Nonsynonymous SNV R891Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 227083 chr1 152595530 152595530 G - LCE3A P17Lfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 227084 chr2 234858745 234858745 G A rs200632625 TRPM8 Synonymous SNV T365T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.18 227085 chrX 102565349 102565349 T A rs752300447 BEX2 Stop gain K10X 0.002 0 0 0 2 0 0 0 1 0 0 0 24 227086 chr10 135372847 135372847 G A SYCE1 Stop gain R52X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 227087 chr11 60666729 60666729 C T rs774772303 PRPF19 Synonymous SNV S292S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.01 227088 chr2 238632213 238632213 G A rs745729900 LRRFIP1 Nonsynonymous SNV G123E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.78 227089 chr6 147012400 147012400 A - ADGB T488Lfs*3 0 0 0 2 0 0 0.005 0 0 0 0 0 227090 chr6 147885587 147885587 C T rs559693502 SAMD5 Nonsynonymous SNV R173C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 34 227091 chr2 239757244 239757244 A T rs547204820 TWIST2 Nonsynonymous SNV M130L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.35 227092 chr3 99569300 99569300 G A rs200354760 FILIP1L Nonsynonymous SNV T167M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 227093 chr6 150386576 150386576 T G rs754091822 ULBP3 Synonymous SNV R196R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 227094 chr12 133146646 133146646 G A rs756438425 FBRSL1 Nonsynonymous SNV G276R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 227095 chrX 151124284 151124284 C G rs140182680 GABRE Nonsynonymous SNV G278A 0.002 0 0 0 2 0 0 0 1 0 0 0 22.8 227096 chrX 152663822 152663822 G A PNMA6E Synonymous SNV G162G 0.002 0 0 0 2 0 0 0 1 0 0 0 0.308 227097 chr4 10446433 10446433 T C rs377287869 ZNF518B Nonsynonymous SNV Y507C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.532 227098 chr1 158300599 158300599 A T rs374316861 CD1B Nonsynonymous SNV D105E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 227099 chr11 64026629 64026629 A G rs747975479 PLCB3 Nonsynonymous SNV S413G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 227100 chr11 64410154 64410154 - GCAACAGCG rs748980445 NRXN2 L40_L41insPLL 0.001 0.003 0 0 1 1 0 0 0 0 0 0 227101 chr1 160000434 160000434 T C PIGM Nonsynonymous SNV I366V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.005 227102 chr1 1390852 1390852 C A rs200476672 ATAD3C Synonymous SNV R131R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 227103 chr1 160851963 160851963 A G ITLN1 Synonymous SNV G63G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.105 227104 chr1 1720670 1720670 G A rs79516120 GNB1 Synonymous SNV D146D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.107 227105 chr12 2694631 2694631 C T rs772235214 CACNA1C Nonsynonymous SNV T810M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 227106 chr12 27533227 27533227 A G rs778314025 ARNTL2 Nonsynonymous SNV N88S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.748 227107 chr4 145579964 145579964 T C rs139382058 HHIP Synonymous SNV D165D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.205 227108 chr11 6592355 6592355 G A rs371292899 DNHD1 Nonsynonymous SNV R4538Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.2 227109 chr1 3669329 3669329 C T rs41315314 CCDC27 Nonsynonymous SNV S95L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 227110 chr12 346454 346454 C T rs140951084 SLC6A13 Nonsynonymous SNV R97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 227111 chr12 4708932 4708932 A T rs751690150 DYRK4 Synonymous SNV S253S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.55 227112 chr2 39995579 39995579 C A rs374603777 THUMPD2 Nonsynonymous SNV R11S 0 0 0 1 0 0 0.003 0 0 0 0 0 31 227113 chr6 21595137 21595137 C G rs748261222 SOX4 Synonymous SNV P124P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.22 227114 chr10 5827958 5827958 G T rs11557446 GDI2 Synonymous SNV A103A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.651 227115 chr10 5929867 5929867 A G rs745925041 ANKRD16 Nonsynonymous SNV C160R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 227116 chr1 9642512 9642512 T C rs759909065 SLC25A33 Nonsynonymous SNV S307P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 227117 chr2 47251441 47251441 G A rs761294322 TTC7A Synonymous SNV A174A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.315 227118 chr1 11008055 11008055 G A rs142519961 C1orf127 Nonsynonymous SNV R574C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 227119 chr1 180145132 180145132 C T rs200899348 QSOX1 Nonsynonymous SNV T160M 0.001 0.005 0 0 1 2 0 0 0 1 0 0 17.86 227120 chr10 70227996 70227996 T C DNA2 Nonsynonymous SNV I109V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.857 227121 chr12 50195649 50195649 C T rs188112608 NCKAP5L Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.377 227122 chr10 7212995 7212997 CTC - rs747542096 SFMBT2 E813del 0.001 0 0 0 1 0 0 0 0 0 0 0 227123 chr10 72291144 72291144 T C rs138127519 PALD1 Synonymous SNV H189H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.767 227124 chr1 16273596 16273596 A G rs148734996 ZBTB17 Synonymous SNV F76F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.758 227125 chr11 76371523 76371523 G A LRRC32 Nonsynonymous SNV H262Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 227126 chr1 16475203 16475203 C T rs150790360 EPHA2 Nonsynonymous SNV V111M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.4 227127 chr1 16534074 16534074 G T rs143178874 ARHGEF19 Nonsynonymous SNV P273T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.207 227128 chr4 247825 247825 G A rs10028482 ZNF876P 0 0 0.051 0 0 0 0 15 0 0 5 0 3.485 227129 chr1 17320256 17320256 C A rs61739752 ATP13A2 Synonymous SNV L534L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.53 227130 chr1 17380507 17380507 G C rs11203289 SDHB Nonsynonymous SNV A3G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.7 227131 chr1 17570691 17570691 G A rs16824215 PADI1 Nonsynonymous SNV V649M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 32 227132 chr4 2695467 2695467 A C rs372160152 FAM193A Synonymous SNV A695A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.016 227133 chr10 7839089 7839089 C T rs759301329 ATP5F1C Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 227134 chr1 201786420 201786420 A G rs376787622 IPO9-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.86 227135 chr1 18691910 18691910 G A rs2355877 IGSF21 Nonsynonymous SNV R245H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 19.7 227136 chr1 19282488 19282488 C T IFFO2 Synonymous SNV L113L 0 0.005 0 0 0 2 0 0 0 0 0 0 6.291 227137 chr10 85992473 85992473 A G LRIT1 Nonsynonymous SNV L361P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.003 227138 chr10 85997212 85997212 C A rs773355859 LRIT1 Nonsynonymous SNV R118L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.82 227139 chr6 39158977 39158977 G A rs375930462 KCNK5 Nonsynonymous SNV R397C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 227140 chr11 85456687 85456687 T C SYTL2 Nonsynonymous SNV S128G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.198 227141 chr1 23885701 23885701 C T ID3 Nonsynonymous SNV V73I 0 0.003 0 0 0 1 0 0 0 0 0 0 33 227142 chr4 420003 420003 C T rs782098201 ABCA11P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.706 227143 chr1 24417458 24417458 C T rs368992078 MYOM3 Nonsynonymous SNV A421T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 227144 chr4 48529613 48529613 A C FRYL Nonsynonymous SNV S2400A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 227145 chr6 43533405 43533405 G A rs118012171 XPO5 Synonymous SNV S301S 0.003 0 0 2 4 0 0.005 0 0 0 0 0 14.31 227146 chr3 108285403 108285403 T C rs571700556 CIP2A Synonymous SNV Q452Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.208 227147 chr6 46108804 46108804 A T rs572687242 ENPP4 Nonsynonymous SNV Y281F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.87 227148 chr10 99969200 99969200 C T R3HCC1L Synonymous SNV C443C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 4.678 227149 chr4 6234681 6234681 C T rs564682262 LINC02495 0 0 0.007 0 0 0 0 2 0 0 0 0 7.028 227150 chr1 27875690 27875690 G A AHDC1 Synonymous SNV S979S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.432 227151 chr1 31883243 31883243 G A SERINC2 Nonsynonymous SNV M4I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 227152 chr1 32667580 32667580 C T rs370768930 CCDC28B Nonsynonymous SNV A15V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 227153 chr1 32834086 32834088 CCT - BSDC1 E312del 0 0.003 0 0 0 1 0 0 0 0 0 0 227154 chr1 33836151 33836151 G T rs374192129 PHC2 Synonymous SNV L149L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.28 227155 chr1 33836152 33836152 A T rs377675352 PHC2 Nonsynonymous SNV L149H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 227156 chr4 70465059 70465059 G A rs138827969 UGT2A1, UGT2A2 Stop gain R266X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 227157 chr17 73238530 73238530 T C GGA3 Nonsynonymous SNV T90A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 227158 chr3 120489583 120489583 C T rs763768180 GTF2E1 Nonsynonymous SNV R153C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 227159 chr4 74735228 74735228 G A CXCL1 Nonsynonymous SNV R14Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 227160 chr12 66639044 66639044 T A rs527788920 IRAK3 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.7 227161 chr12 10658958 10658958 G C EIF2S3B Nonsynonymous SNV D153H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 227162 chr17 73626918 73626918 - TG rs142406301 RECQL5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 227163 chr3 121415722 121415722 G A GOLGB1 Synonymous SNV D1136D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.351 227164 chr11 1018352 1018352 G C MUC6 Synonymous SNV T1483T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 227165 chr12 7045903 7045903 - CAG ATN1 Q502_H503insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 227166 chr1 40323052 40323052 G C TRIT1 Nonsynonymous SNV S71C 0 0.003 0 0 0 1 0 0 0 0 0 0 26 227167 chr1 40771827 40771827 G A rs138882727 COL9A2 Synonymous SNV G347G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.17 227168 chr11 102663336 102663336 C T rs751094664 MMP1 Nonsynonymous SNV G279R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 227169 chr11 104868121 104868121 T C rs757545547 CASP5 Nonsynonymous SNV I257V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 227170 chr17 75478374 75478374 G A rs746630761 SEPTIN9 Synonymous SNV R178R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 227171 chr11 107729387 107729387 G A rs760597780 SLC35F2 Nonsynonymous SNV T36I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 227172 chr12 11420621 11420621 G A rs201837572 PRB3 Nonsynonymous SNV P188S 0 0.005 0 0 0 2 0 0 0 0 0 0 13.08 227173 chr4 8869978 8869978 T G rs373760055 HMX1 Nonsynonymous SNV E163A 0 0 0.01 0 0 0 0 3 0 0 1 0 23 227174 chr3 129140412 129140412 A G rs371476230 EFCAB12 Nonsynonymous SNV I95T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.407 227175 chr1 46073773 46073773 C T rs764555404 NASP Nonsynonymous SNV S333F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 227176 chr4 94690445 94690445 G A rs749214409 GRID2 Synonymous SNV S720S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.72 227177 chr1 47840592 47840592 A G rs6656779 CMPK1 Synonymous SNV E112E 0.002 0.003 0 0 2 1 0 0 1 0 0 0 4.966 227178 chr1 48460192 48460192 G A rs4531328 TRABD2B Synonymous SNV P60P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.266 227179 chr1 53323311 53323311 G A ZYG11A Nonsynonymous SNV D300N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 227180 chr1 241907753 241907753 A G rs774629417 WDR64 Nonsynonymous SNV N510S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.128 227181 chr12 96284640 96284640 C T CCDC38 Nonsynonymous SNV E281K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 227182 chr5 112478967 112478967 C T rs200082888 MCC Nonsynonymous SNV V88I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 227183 chr12 98938113 98938113 A G TMPO Nonsynonymous SNV T257A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 227184 chr12 9994493 9994493 T C KLRF1 Synonymous SNV Y90Y 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.016 227185 chr5 126113362 126113362 G A LMNB1 Synonymous SNV E54E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 227186 chr1 65684540 65684540 C G AK4 Synonymous SNV L71L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 227187 chr3 158399957 158399957 A T rs199739357 GFM1 X592L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 3.817 227188 chr13 114058351 114058351 - GAGCCCGTTCCTGAGCTCCTTTCTGGGCCTGTTCCC LOC101928841 A1384_Q1385insREQAQKGAQERA 0.002 0 0 0 2 0 0 0 0 0 0 0 227189 chr12 13715943 13715943 G A rs779830552 GRIN2B Nonsynonymous SNV T1410M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 20.5 227190 chr12 13716491 13716491 C T rs758736358 GRIN2B Synonymous SNV T1227T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.72 227191 chr13 21955582 21955582 C T rs185661667 ZDHHC20 Nonsynonymous SNV V288I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.852 227192 chr3 169546683 169546683 A G LRRIQ4 Nonsynonymous SNV K386R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.487 227193 chr1 82447513 82447513 C T rs267598734 ADGRL2 Synonymous SNV F1028F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.562 227194 chr18 28919845 28919845 A G rs770350552 DSG1 Nonsynonymous SNV Y515C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 227195 chr18 33557545 33557545 G T C18orf21 Nonsynonymous SNV S70I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 227196 chr12 2968619 2968619 A G FOXM1 Nonsynonymous SNV S478P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.53 227197 chr5 141335103 141335103 T A PCDH12 Stop gain K772X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 227198 chr5 147582715 147582715 C T rs146625765 SPINK6 Nonsynonymous SNV T19I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 227199 chr3 185252641 185252641 C T rs370653261 LIPH Nonsynonymous SNV R110Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24 227200 chr5 149225352 149225352 G A rs372006030 PPARGC1B Nonsynonymous SNV R910Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 227201 chr3 186395473 186395473 G A rs148716747 HRG Nonsynonymous SNV R460Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.15 227202 chr5 149677247 149677247 C A rs745663592 ARSI Nonsynonymous SNV A414S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 227203 chr5 149786458 149786458 C G rs11548083 CD74 Nonsynonymous SNV A122P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.983 227204 chr12 48272839 48272839 C T rs375156114 VDR Nonsynonymous SNV V20M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 227205 chr13 61985948 61985948 A G PCDH20 Nonsynonymous SNV S762P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 227206 chr7 138265337 138265337 C G rs61751967 TRIM24 Nonsynonymous SNV D838E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 25 227207 chr2 37255079 37255079 A T HEATR5B Synonymous SNV L1280L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.612 227208 chr3 196754648 196754648 G T rs200232424 MELTF Nonsynonymous SNV D61E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.094 227209 chr11 32637504 32637504 C G rs375600920 CCDC73 Nonsynonymous SNV E453Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 227210 chr1 114515951 114515962 CACTTTGGTGCA - HIPK1 T757_H760del 0 0.003 0 0 0 1 0 0 0 0 0 0 227211 chr5 169535386 169535386 G A rs773527333 FOXI1 Nonsynonymous SNV G303E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 227212 chr1 118477235 118477235 A G rs60920480 WDR3 Nonsynonymous SNV N104S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.515 227213 chr1 118483499 118483499 C T WDR3 Nonsynonymous SNV P242L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.5 227214 chr3 36779825 36779825 G C rs537884828 DCLK3 Nonsynonymous SNV P109R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 227215 chr7 149499202 149499202 C T rs372760849 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 227216 chr7 150325146 150325146 G C rs139277843 GIMAP6 Synonymous SNV T250T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 227217 chr1 152080334 152080357 GCTGTTCCTCCCTCTCCTGGCGGA - rs750788841 TCHH L1779_Q1786del 0 0.003 0 0 0 1 0 0 0 0 0 0 227218 chr1 152083940 152084026 TCTCCTCCTCGCGCTTCAGCAGCTGATCGCGCCTCTCCTCCTGCTCGCGCTTCAGCCGCTGCTCTCGCCTCTCCTGCTCGAGCCTCT - TCHH K556_E584del 0 0.003 0 0 0 1 0 0 0 0 0 0 227219 chr5 180432756 180432756 A T rs777796457 BTNL3 Nonsynonymous SNV I429F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 227220 chr3 44684413 44684413 A G rs369843769 ZNF197, ZNF660-ZNF197 Synonymous SNV K384K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 227221 chr14 21811213 21811213 A G rs137853911 RPGRIP1 Nonsynonymous SNV I1120V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 227222 chr5 1880250 1880250 G A IRX4 Nonsynonymous SNV R139W 0 0 0.003 0 0 0 0 1 0 0 0 0 5.599 227223 chr2 80529520 80529520 C T LRRTM1 Synonymous SNV Q475Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.969 227224 chr5 38886293 38886293 G A rs778711157 OSMR, OSMR Nonsynonymous SNV G331D 0 0 0.003 0 0 0 0 1 0 0 0 0 26 227225 chr14 24035060 24035060 C T rs138395869 AP1G2 Nonsynonymous SNV E132K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 227226 chr1 156354611 156354611 G A rs369241790 RHBG Nonsynonymous SNV V451M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.722 227227 chr5 43280480 43280480 G A rs55770078 NIM1K Nonsynonymous SNV M320I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.91 227228 chr14 24780503 24780503 C T rs201679119 LTB4R2 Synonymous SNV A211A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.69 227229 chr19 14752418 14752418 G A ADGRE3 Nonsynonymous SNV P228L 0 0.003 0 0 0 1 0 0 0 0 0 0 21 227230 chr3 48447172 48447172 G A rs150634780 PLXNB1 Synonymous SNV L2088L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.639 227231 chr3 48454306 48454306 C T rs377141484 PLXNB1 Nonsynonymous SNV D1567N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 227232 chr3 49136794 49136794 T C QARS1 Nonsynonymous SNV N522D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 227233 chr1 156639502 156639502 G A NES Nonsynonymous SNV A1493V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 227234 chr2 95846965 95846965 A G rs754930900 ZNF2 Nonsynonymous SNV N51S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.007 227235 chr1 156714027 156714027 C G rs146838771 HDGF Synonymous SNV L155L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.927 227236 chr11 4881374 4881374 C T rs774389435 OR51H1 Nonsynonymous SNV D141N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.699 227237 chr3 49897309 49897309 A G rs149222654 CAMKV Synonymous SNV A316A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.066 227238 chr5 55081168 55081168 A G rs754207044 DDX4 Synonymous SNV G189G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.884 227239 chr3 50599167 50599167 G A rs142695114 C3orf18 Synonymous SNV I82I 0.008 0 0 3 9 0 0.008 0 1 0 0 0 12.9 227240 chr3 50614990 50614990 T G rs2232251 HEMK1 Nonsynonymous SNV H200Q 0.008 0 0 3 9 0 0.008 0 1 0 0 0 0.444 227241 chr14 38725222 38725222 C T CLEC14A Synonymous SNV R2R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 227242 chr5 66460769 66460769 G A rs766236453 MAST4 Nonsynonymous SNV R1660K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.79 227243 chr14 45667962 45667962 G T rs201017015 FANCM Nonsynonymous SNV L1918F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 227244 chr1 159802773 159802773 G A rs368997999 SLAMF8 Nonsynonymous SNV E50K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 227245 chr5 72383911 72383911 T C rs754056046 FCHO2 Synonymous SNV D776D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.715 227246 chr5 73153979 73153979 C T rs61739928 ARHGEF28 Nonsynonymous SNV S348F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.9 227247 chr12 7805185 7805185 G T APOBEC1 Synonymous SNV S52S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.986 227248 chr3 58178480 58178480 T C rs759238109 DNASE1L3 Synonymous SNV S254S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.881 227249 chr5 74981083 74981083 A G POC5 Synonymous SNV P427P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 227250 chr3 63264392 63264392 C T rs201880233 SYNPR Nonsynonymous SNV L20F 0 0 0 3 0 0 0.008 0 0 0 0 0 32 227251 chr11 550169 550169 A G LRRC56 Nonsynonymous SNV D174G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 17.71 227252 chr3 64635449 64635449 C T rs147650040 ADAMTS9 Nonsynonymous SNV G462D 0 0 0 2 0 0 0.005 0 0 0 0 0 33 227253 chr3 65346993 65346993 T A rs748965783 MAGI1 Nonsynonymous SNV E1172V 0 0 0 1 0 0 0.003 0 0 0 0 0 32 227254 chr11 55406429 55406429 C T rs749533521 OR4P4 Nonsynonymous SNV A199V 0.001 0.005 0 0 1 2 0 0 0 1 0 0 5.159 227255 chr5 79030000 79030000 G C rs200707794 CMYA5 Nonsynonymous SNV Q1804H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 227256 chr2 135075146 135075146 C T rs756885520 MGAT5 Synonymous SNV D151D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 16.74 227257 chr1 175053064 175053064 C T rs202160182 TNN Synonymous SNV D409D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 227258 chr5 86628334 86628334 A G RASA1 Nonsynonymous SNV M235V 0 0 0.007 0 0 0 0 2 0 0 1 0 7.896 227259 chr14 65208145 65208145 G A rs776806212 PLEKHG3 Nonsynonymous SNV R637Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 227260 chr1 179609135 179609135 C T rs777816085 TDRD5 Nonsynonymous SNV P116L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 227261 chr13 110804812 110804812 C T rs146638269 COL4A1 Synonymous SNV A1599A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 14.19 227262 chr4 107249275 107249275 A G rs202131629 AIMP1 Nonsynonymous SNV N89S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.011 227263 chr4 111539394 111539394 G A rs139401187 PITX2 Synonymous SNV L288L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.418 227264 chr6 110012665 110012665 C T rs141040807 FIG4 Synonymous SNV I9I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 14.43 227265 chr6 110083391 110083391 A G FIG4 Nonsynonymous SNV I457V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.529 227266 chr11 57077319 57077319 C T rs556509857 TNKS1BP1 Nonsynonymous SNV A956T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.33 227267 chr4 120240755 120240755 T C FABP2 Nonsynonymous SNV K95R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.526 227268 chr7 91924430 91924430 C T ANKIB1 Synonymous SNV H46H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.36 227269 chr7 93106924 93106924 C G CALCR Nonsynonymous SNV G88R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 227270 chr2 176996334 176996334 A G HOXD8 Synonymous SNV T288T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 227271 chr4 126329896 126329896 A G FAT4 Nonsynonymous SNV N1956S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.65 227272 chr1 203138144 203138144 A G rs772827472 MYBPH Nonsynonymous SNV V436A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 227273 chr8 101541861 101541861 G A rs777512732 ANKRD46 Synonymous SNV F67F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 12.43 227274 chr4 141396060 141396060 A G rs895556653 MGAT4D Synonymous SNV N144N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.56 227275 chr6 139202128 139202128 G A rs200797197 ECT2L Nonsynonymous SNV R567Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 227276 chr6 143792114 143792114 T C rs760092536 PEX3 Synonymous SNV T116T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.418 227277 chr14 96811669 96811669 A G rs368533260 ATG2B Synonymous SNV L127L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.324 227278 chr14 96848730 96848730 A G rs772300147 GSKIP Nonsynonymous SNV N49S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 227279 chr6 144869897 144869897 C T rs775749891 UTRN Synonymous SNV A2239A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 227280 chr1 207498984 207498984 C T rs924315999 CD55 Nonsynonymous SNV P166S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 227281 chr8 110406662 110406662 G A rs1015941466 PKHD1L1 Nonsynonymous SNV M253I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.67 227282 chr2 196581438 196581438 C T SLC39A10 Nonsynonymous SNV P592S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 227283 chr8 114449064 114449064 C T CSMD3 Nonsynonymous SNV G7E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 227284 chr19 39915651 39915651 G A rs200571314 PLEKHG2 Nonsynonymous SNV R1293Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 227285 chr6 152563453 152563453 A T rs776418227 SYNE1 Synonymous SNV G6534G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.823 227286 chr4 159592949 159592949 G A C4orf46 Nonsynonymous SNV A2V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 227287 chr2 204037481 204037481 G A rs199575214 NBEAL1 Synonymous SNV S2047S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.38 227288 chr2 204150391 204150391 T C rs140016439 CYP20A1 Nonsynonymous SNV Y136H 0.003 0 0 0 4 0 0 0 0 0 0 0 0.131 227289 chr6 155597309 155597309 T G rs760480130 CLDN20 Synonymous SNV V152V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.794 227290 chr11 63994278 63994278 C T NUDT22 Stop gain Q52X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 227291 chr2 207174969 207174969 T C rs370571485 ZDBF2 Nonsynonymous SNV I1906T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.001 227292 chr4 169589472 169589472 C T rs150711066 PALLD Nonsynonymous SNV T347M 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 227293 chr11 64674213 64674213 G A rs112366297 ATG2A Synonymous SNV S961S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.892 227294 chr1 227923010 227923010 C A JMJD4 Nonsynonymous SNV V35L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22 227295 chr1 228401190 228401192 AGA - rs762250692 OBSCN K347del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 227296 chr19 44418081 44418081 C T rs765816598 ZNF45 Nonsynonymous SNV E503K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 227297 chr6 24503585 24503585 T C rs375773360 ALDH5A1 Nonsynonymous SNV I178T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 227298 chr1 228557697 228557697 C G rs200703788 OBSCN Nonsynonymous SNV N6674K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 17.08 227299 chr1 229438621 229438621 C T rs184851755 RAB4A Nonsynonymous SNV P80L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24 227300 chr19 44833513 44833513 C A rs750115847 ZNF112 Nonsynonymous SNV S205I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 227301 chr8 144671203 144671203 G A EEF1D Nonsynonymous SNV P350L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 227302 chr4 27024219 27024219 C T rs760252545 STIM2 Synonymous SNV L614L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.05 227303 chr1 232943694 232943694 A G rs189565787 MAP10 Synonymous SNV T975T 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 0.002 227304 chr1 233353654 233353654 T C rs369656226 PCNX2 Synonymous SNV S894S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.11 227305 chr1 236416750 236416750 T C rs147983087 ERO1B Nonsynonymous SNV K93R 0.001 0.005 0 0 1 2 0 0 0 1 0 0 10.62 227306 chr15 51250833 51250833 G A rs764876431 AP4E1 Nonsynonymous SNV A490T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 227307 chr11 69589559 69589559 C A rs199745821 FGF4 Synonymous SNV A98A 0.003 0 0 0 4 0 0 0 0 0 0 0 21.9 227308 chr6 32605283 32605283 C T rs41551712 HLA-DQA1 Synonymous SNV T16T 0 0 0.003 5 0 0 0.013 1 0 0 0 2 11.51 227309 chr8 144946588 144946588 C T rs373854477 EPPK1 Synonymous SNV R278R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.649 227310 chr15 56152759 56152759 A G rs758322702 NEDD4 Nonsynonymous SNV I616T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 227311 chr11 73814376 73814376 T G rs372587472 C2CD3 Nonsynonymous SNV T794P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.749 227312 chr15 62212775 62212775 T G VPS13C Synonymous SNV A2335A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.89 227313 chr14 23282152 23282152 G A rs8016634 SLC7A7 Synonymous SNV F152F 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 2.637 227314 chr15 63040620 63040620 G A TLN2 Nonsynonymous SNV D1366N 0.001 0 0 0 1 0 0 0 0 0 0 0 35 227315 chr2 234217899 234217899 C T rs367731825 SAG Nonsynonymous SNV R22W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 227316 chr15 65425742 65425742 C G PDCD7 Synonymous SNV P126P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 227317 chr2 234591343 234591343 C T rs201879946 UGT1A7 Stop gain R254X 0.003 0 0 1 4 0 0.003 0 0 0 0 0 35 227318 chr8 146068360 146068360 G A rs150360233 ZNF7 Nonsynonymous SNV S527N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.544 227319 chr2 234669469 234669469 T G UGT1A1 Nonsynonymous SNV L179R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 227320 chr8 1626578 1626578 T C rs747838557 DLGAP2 Synonymous SNV Y829Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 227321 chr6 42832562 42832562 T G rs144252837 BICRAL Nonsynonymous SNV M873R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.182 227322 chr11 8435130 8435130 G A rs145552076 STK33 Nonsynonymous SNV P232L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.195 227323 chr2 3816956 3816956 C T rs201032770 DCDC2C Synonymous SNV D169D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.787 227324 chr11 85437405 85437405 T C rs115240923 SYTL2 Nonsynonymous SNV D999G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.089 227325 chr11 86665923 86665923 G A rs80358282 FZD4 Nonsynonymous SNV H69Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 227326 chr10 102753191 102753191 C T rs571312130 TWNK Nonsynonymous SNV T206M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.057 227327 chr4 74702553 74702553 C T CXCL6 Nonsynonymous SNV T29M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 227328 chr4 74964798 74964798 G C rs747593102 CXCL2 Nonsynonymous SNV R14G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.22 227329 chr2 19553075 19553075 C T rs201130400 OSR1 Synonymous SNV R164R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.22 227330 chr6 56496723 56496723 T C DST Synonymous SNV R770R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.387 227331 chr10 106974328 106974328 C T SORCS3 Nonsynonymous SNV A835V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 227332 chr2 21232911 21232911 C G rs768940377 APOB Nonsynonymous SNV D2277H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 227333 chr6 70890356 70890356 G A COL19A1 Nonsynonymous SNV E906K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 227334 chr4 8221141 8221141 C T rs41266529 SH3TC1 Synonymous SNV I256I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.49 227335 chr2 27447215 27447218 AGAG - rs755714281 CAD R371Sfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 227336 chr10 116702475 116702475 C G TRUB1 Nonsynonymous SNV L120V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 227337 chr6 7862715 7862715 G T rs201606023 BMP6 Synonymous SNV R396R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.824 227338 chr6 83849733 83849733 C T DOP1A Nonsynonymous SNV A1703V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 227339 chr2 31572974 31572974 C A rs1009900673 XDH Nonsynonymous SNV G916V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 227340 chr14 71199530 71199530 G A rs770665797 MAP3K9 Synonymous SNV S585S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.37 227341 chr10 125805592 125805592 C T rs201960331 CHST15 Nonsynonymous SNV R46H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 227342 chr2 44032304 44032304 G A rs374668170 DYNC2LI1 Synonymous SNV T305T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.954 227343 chr2 44539792 44539792 T A rs121912691 SLC3A1 Nonsynonymous SNV M467K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 227344 chr2 55191184 55191184 G A EML6 Synonymous SNV G1740G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.976 227345 chr2 55889149 55889149 C T rs200016391 PNPT1 Nonsynonymous SNV V397I 0 0.003 0 0 0 1 0 0 0 0 0 0 34 227346 chr3 42251578 42251586 GGAGGAGGA - TRAK1 E622_E624del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 227347 chr16 1392545 1392545 C T BAIAP3 Synonymous SNV G325G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.45 227348 chr3 42251586 42251586 - GGA TRAK1 E624_G625insE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 227349 chr8 95550566 95550566 G T VIRMA Nonsynonymous SNV S63Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.5 227350 chr8 95550567 95550567 A T VIRMA Nonsynonymous SNV S63T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.4 227351 chr3 43344716 43344716 G T rs17075517 SNRK Synonymous SNV G7G 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 Benign 7.418 227352 chr3 43345107 43345107 A C rs17075521 SNRK Synonymous SNV R138R 0.003 0.01 0.003 2 4 4 0.005 1 0 0 0 0 Benign 0.016 227353 chr10 134996985 134996985 G T rs373692082 KNDC1 Synonymous SNV P166P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.343 227354 chr14 86088515 86088515 G C rs149714285 FLRT2 Nonsynonymous SNV K219N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.63 227355 chr16 1961881 1961881 C T HS3ST6 Nonsynonymous SNV V247I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 227356 chr2 74691827 74691827 G C rs369972550 MOGS Synonymous SNV G125G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 3.206 227357 chr2 85361053 85361053 G A rs770866169 TCF7L1 Synonymous SNV S82S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.43 227358 chr2 85361468 85361468 G A rs759377447 TCF7L1 Synonymous SNV A112A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 227359 chr3 49698463 49698463 A G rs1034617560 BSN Nonsynonymous SNV Q3062R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.757 227360 chr9 115806187 115806187 G C ZFP37 Nonsynonymous SNV S252R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.906 227361 chr16 23619192 23619192 C A PALB2 Nonsynonymous SNV A1115S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 227362 chr10 30638067 30638067 A G rs147352132 MTPAP Synonymous SNV P46P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.975 227363 chr2 102964472 102964472 G C IL1RL1 Synonymous SNV L346L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.096 227364 chr3 52847501 52847501 C T rs113454148 ITIH4 Nonsynonymous SNV R880H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.83 227365 chr10 430544 430544 C T rs138724204 DIP2C Synonymous SNV P566P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.22 227366 chr7 134871743 134871743 G A WDR91 Nonsynonymous SNV T713I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 227367 chr16 31393801 31393801 C T rs867175699 ITGAX Nonsynonymous SNV P1165L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.666 227368 chr3 58728202 58728202 G A rs377287824 C3orf67 Synonymous SNV Y755Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.675 227369 chr3 58834909 58834909 G C rs758560928 C3orf67 Nonsynonymous SNV P552R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.672 227370 chr3 58835038 58835038 C T rs564809505 C3orf67 Nonsynonymous SNV R509Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.072 227371 chr10 50038886 50038886 C T WDFY4 Nonsynonymous SNV P2161L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 227372 chr7 141635697 141635697 A T rs782806201 CLEC5A Nonsynonymous SNV S65T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 227373 chr16 4165163 4165163 T C rs139324997 ADCY9 Nonsynonymous SNV K94R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.74 227374 chr9 130207014 130207014 C T rs373770489 ZNF79 Synonymous SNV C211C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.62 227375 chr9 130219669 130219669 C G rs2243906 LRSAM1 Nonsynonymous SNV I83M 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 227376 chr16 4519449 4519449 C T rs77934295 NMRAL1 Nonsynonymous SNV V20M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 227377 chr7 144245654 144245654 A G TPK1 Synonymous SNV D75D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.205 227378 chr7 1481833 1481833 G A rs772769115 MICALL2 Nonsynonymous SNV T569M 0 0 0.007 0 0 0 0 2 0 0 1 0 0.134 227379 chr16 4723540 4723540 G C MGRN1 Synonymous SNV V279V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.77 227380 chr12 42512955 42512955 C T rs373776226 GXYLT1 Synonymous SNV Q80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 227381 chr3 98620092 98620092 A T rs202241867 DCBLD2 Nonsynonymous SNV W27R 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 0.008 227382 chr9 131767600 131767600 C T rs750370208 NUP188 Nonsynonymous SNV L1510F 0 0 0 2 0 0 0.005 0 0 0 0 0 19.32 227383 chr9 131885336 131885336 C T rs778381560 PTPA Synonymous SNV Y10Y 0 0 0 2 0 0 0.005 0 0 0 0 0 13.36 227384 chr16 55361504 55361504 C T rs146328122 IRX6 Synonymous SNV G140G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 227385 chr10 69991242 69991242 T C rs111699024 ATOH7 Nonsynonymous SNV R65G 0.001 0 0 0 1 0 0 0 0 0 0 0 22 227386 chr2 160755565 160755570 CATTAG - rs371868980 LY75, LY75-CD302 A32_N33del 0 0.003 0 0 0 1 0 0 0 0 0 0 227387 chr2 160889476 160889476 T C rs965290 PLA2R1 Nonsynonymous SNV I279V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.332 227388 chr12 49230436 49230436 G T DDX23 Synonymous SNV G384G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.53 227389 chr12 49919853 49919853 G C rs142325466 SPATS2 Nonsynonymous SNV G485R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 227390 chr9 135458505 135458505 A G BARHL1 Synonymous SNV P107P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.21 227391 chr9 135862715 135862715 A G GFI1B Synonymous SNV L49L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.105 227392 chr16 57796075 57796075 C T rs201079642 KIFC3 Synonymous SNV A473A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.64 227393 chr5 176317647 176317647 G A rs139900925 HK3 Nonsynonymous SNV R207W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 227394 chr10 73571190 73571190 C T CDH23 Stop gain Q826X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 227395 chr10 75185804 75185804 A T rs201323413 MSS51 Synonymous SNV T278T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.374 227396 chr3 122001037 122001037 C T rs193922428 CASR Synonymous SNV C562C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.44 227397 chr10 75855442 75855442 C T rs138566234 VCL Synonymous SNV A524A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 20.5 227398 chr9 138454220 138454220 C T rs377751143 PAEP Synonymous SNV V37V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.604 227399 chr7 27135309 27135317 GGTGGCGAT - rs544314279 HOXA1 H72_H74del 0 0 0.003 0 0 0 0 1 0 0 0 0 227400 chr12 53164929 53164929 C T rs748543410 KRT76 Synonymous SNV K446K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 227401 chr16 69333637 69333637 G A rs199532963 SNTB2 Nonsynonymous SNV R497Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 227402 chr7 29689817 29689817 G A LOC646762 0 0 0.003 0 0 0 0 1 0 0 0 0 4.234 227403 chr7 30693218 30693218 T G rs753606266 CRHR2 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 227404 chr12 53491531 53491531 G A rs17123156 IGFBP6 Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.967 227405 chr16 71660549 71660549 G A MARVELD3 Synonymous SNV E139E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 227406 chr9 139915289 139915289 C A rs762073704 ABCA2 Synonymous SNV G374G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.19 227407 chr7 30951705 30951705 G A rs753051699 AQP1 Nonsynonymous SNV A61T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 227408 chr2 179593104 179593104 A G rs373750655 TTN Nonsynonymous SNV F5239L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.7 227409 chr16 72821431 72821431 T G rs763183937 ZFHX3 Nonsynonymous SNV S2668R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 227410 chr10 91098746 91098746 G C rs773224626 IFIT3 Nonsynonymous SNV D112H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 227411 chr16 75513726 75513732 TGCTGAC - rs773100046 CHST6 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 227412 chr5 19612573 19612573 C T CDH18 Nonsynonymous SNV V261I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 227413 chr9 140289755 140289755 C T EXD3 Nonsynonymous SNV G19S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 227414 chr12 57037227 57037227 A G rs138308594 ATP5F1B Nonsynonymous SNV I251T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 227415 chr7 43909081 43909081 A G rs569584505 MRPS24 Nonsynonymous SNV V5A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 227416 chr2 186656923 186656923 T C rs189613387 FSIP2 Nonsynonymous SNV L1687S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 227417 chr16 81965129 81965129 A G rs764507005 PLCG2 Nonsynonymous SNV K870R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 227418 chr7 45123097 45123097 C T rs61740885 NACAD Synonymous SNV S894S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 227419 chr9 32632710 32632710 G A rs140546243 TAF1L Synonymous SNV A956A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.88 227420 chr9 33246710 33246710 C T rs151312668 SPINK4 Nonsynonymous SNV L67F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 227421 chr9 34256320 34256320 T G rs772027955 KIF24 Synonymous SNV P1095P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.683 227422 chr9 35044310 35044310 C T C9orf131 Nonsynonymous SNV L527F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.617 227423 chr9 35561027 35561027 C T rs201389638 RUSC2 Nonsynonymous SNV R550W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.7 227424 chr3 151164292 151164292 G A rs145350083 IGSF10 Synonymous SNV N1159N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 3.147 227425 chr5 55168173 55168173 C G rs371072143 IL31RA Nonsynonymous SNV F97L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 227426 chr16 88781121 88781121 G C rs536542259 CTU2 Nonsynonymous SNV R356P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.203 227427 chr16 89017399 89017399 T G rs201833787 LOC100129697 Synonymous SNV L291L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 227428 chr7 75614912 75614912 G C rs72557946 POR Nonsynonymous SNV V472L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 227429 chr16 89352026 89352026 G A rs373627320 ANKRD11 Synonymous SNV F308F 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.24 227430 chr7 76054543 76054543 G T rs140647241 ZP3 Nonsynonymous SNV D88Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.1 227431 chr13 73342922 73342922 C T DIS3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.4 227432 chr3 183524712 183524712 A G rs145482556 YEATS2 Synonymous SNV Q1281Q 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.86 227433 chr5 72378614 72378614 G T FCHO2 Nonsynonymous SNV W703L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 227434 chr7 80300353 80300353 T C rs188717259 CD36 Synonymous SNV F254F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.648 227435 chr2 219677004 219677004 C A rs59443548 CYP27A1 Nonsynonymous SNV A169E 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 15.13 227436 chr17 11778271 11778271 - A DNAH9 Frameshift insertion I3417Nfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 227437 chr9 85863069 85863069 G A rs190298518 FRMD3 Nonsynonymous SNV R177W 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 227438 chr9 88234196 88234196 C A AGTPBP1 Nonsynonymous SNV G759V 0 0 0 2 0 0 0.005 0 0 0 0 0 20.6 227439 chr16 11781805 11781805 A G rs757036120 TXNDC11 Synonymous SNV Y235Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 227440 chr5 77523350 77523350 T C rs758062316 AP3B1 Nonsynonymous SNV N79D 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 227441 chr9 96209957 96209957 T C rs113476650 FAM120AOS Nonsynonymous SNV N54S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 3.251 227442 chr12 96437153 96437153 T C rs988014835 LTA4H Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.568 227443 chr7 95775900 95775900 C T rs554809009 SLC25A13 Nonsynonymous SNV V475M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 227444 chr7 99145422 99145422 C T rs200085607 FAM200A Stop gain W203X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 36 227445 chr2 225717117 225717117 C T rs200829813 DOCK10 Nonsynonymous SNV E701K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 227446 chrX 106116878 106116878 A C rs147571776 TBC1D8B Nonsynonymous SNV I1016L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 227447 chr17 1961638 1961638 C A rs373992938 HIC1 Synonymous SNV R571R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 227448 chr11 117109603 117109603 A G RNF214 Nonsynonymous SNV T132A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 227449 chr2 233409103 233409103 G C CHRNG Synonymous SNV L354L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.536 227450 chr16 19468177 19468177 T C rs138611900 TMC5 Nonsynonymous SNV I50T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.334 227451 chrX 130215721 130215721 T C rs375021065 ARHGAP36 Nonsynonymous SNV F28L 0 0 0 3 0 0 0.008 0 0 0 0 1 3.672 227452 chr8 120940769 120940769 G A rs765007914 DEPTOR Synonymous SNV T84T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 227453 chr2 237032671 237032671 C T rs140144664 AGAP1 Nonsynonymous SNV P774S 0 0.01 0 0 0 4 0 0 0 0 0 0 27.7 227454 chr6 107955548 107955548 G T rs372926482 SOBP Synonymous SNV P500P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.022 227455 chr17 26901197 26901197 G A rs138076634 ALDOC Synonymous SNV L229L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.472 227456 chr17 26951321 26951321 C T rs150805907 KIAA0100 Nonsynonymous SNV C1418Y 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23 227457 chr17 27086659 27086659 T C rs557183977 FAM222B Synonymous SNV K106K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.758 227458 chr17 27286753 27286753 G C rs201821795 SEZ6 Nonsynonymous SNV H578Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.048 227459 chr4 3447965 3447965 C T rs185455355 HGFAC Synonymous SNV A433A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.575 227460 chr17 27904687 27904687 C T rs138661474 GIT1 Synonymous SNV P319P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 227461 chr6 111887758 111887758 G A rs200213270 TRAF3IP2 Synonymous SNV T454T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 15 227462 chr16 24942385 24942385 A G rs757500687 ARHGAP17 Synonymous SNV H667H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.355 227463 chr4 5500682 5500682 C T STK32B Stop gain Q343X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 42 227464 chr17 29758897 29758897 C T rs765390391 RAB11FIP4 Nonsynonymous SNV R76W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 227465 chr16 256089 256089 G A LUC7L Stop gain Q142X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 227466 chr2 239164350 239164350 G A rs773761088 PER2 Synonymous SNV S756S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 227467 chrX 154194942 154194942 T G rs782395704 F8 Nonsynonymous SNV K344Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.175 227468 chr17 34857022 34857022 G C rs761777875 MYO19 Nonsynonymous SNV L512V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 227469 chr4 8608538 8608538 C T rs137864072 CPZ Synonymous SNV D316D 0.002 0 0 6 2 0 0.015 0 0 0 0 0 11.36 227470 chr4 9828045 9828045 A C SLC2A9 Nonsynonymous SNV D533E 0.002 0 0 6 2 0 0.015 0 0 0 0 0 0.002 227471 chr8 144295786 144295788 GAG - GPIHBP1 E50del 0 0 0.003 0 0 0 0 1 0 0 0 0 227472 chrX 40539272 40539272 T C MED14 Synonymous SNV P908P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 227473 chrX 50378342 50378342 T C rs142189648 SHROOM4 Nonsynonymous SNV N244S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.001 227474 chrX 51639546 51639546 G C MAGED1 Nonsynonymous SNV Q265H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.9 227475 chr1 175355212 175355212 C T TNR Nonsynonymous SNV R245Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 227476 chrX 53611216 53611216 T C rs149893977 HUWE1 Synonymous SNV G1697G 0.001 0.016 0 2 1 6 0.005 0 0 2 0 0 Conflicting interpretations of pathogenicity 2.255 227477 chrX 54497828 54497828 G A rs758037401 FGD1 Nonsynonymous SNV R134C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 227478 chr6 143092744 143092744 T C rs763316102 HIVEP2 Synonymous SNV P1044P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.597 227479 chr6 143832701 143832701 G A rs747612030 FUCA2 Nonsynonymous SNV P24L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 227480 chr8 144998085 144998085 C G rs782708058 PLEC Synonymous SNV R1990R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 227481 chr8 145003296 145003296 T C PLEC Nonsynonymous SNV S1065G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 227482 chr4 37445867 37445867 C T rs202105367 NWD2 Nonsynonymous SNV R753C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 227483 chr6 150038851 150038851 G C LOC645967 0 0 0 1 0 0 0.003 0 0 0 0 0 13.34 227484 chr14 53119900 53119900 A G rs753676845 ERO1A Synonymous SNV A314A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.547 227485 chr3 32030765 32030765 T C rs763340372 ZNF860 Nonsynonymous SNV I65T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.612 227486 chr1 181740452 181740452 C T rs183065185 CACNA1E Synonymous SNV D1616D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 16.87 227487 chr8 17104849 17104849 G C rs199577037 VPS37A Synonymous SNV L32L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.422 227488 chr14 60212912 60212912 C T rs35864480 RTN1 Nonsynonymous SNV E177K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 227489 chr16 56924211 56924211 G A rs780742761 SLC12A3 Nonsynonymous SNV V771M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 227490 chr6 153292308 153292308 C T rs144773049 FBXO5 Nonsynonymous SNV R399Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 227491 chr16 57717889 57717889 C T rs73554921 ADGRG3 Synonymous SNV H189H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.54 227492 chr14 64463864 64463864 C T rs369667178 SYNE2 Nonsynonymous SNV T1047M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 227493 chr6 158483148 158483148 A C SYNJ2 Nonsynonymous SNV H123P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 227494 chr14 65253490 65253490 C T SPTB Nonsynonymous SNV A1065T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 227495 chr8 23058065 23058065 G - rs754367469 TNFRSF10A P251Rfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 227496 chr4 70810709 70810709 A G rs201198342 CSN1S1 Nonsynonymous SNV M173V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 227497 chr1 190067196 190067196 G T rs781131758 BRINP3 Synonymous SNV A649A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.281 227498 chr16 67000652 67000652 G A rs766268033 CES3 Nonsynonymous SNV V316I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 227499 chr1 19282719 19282719 C T IFFO2 Synonymous SNV G36G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.671 227500 chr16 677584 677584 C A RAB40C Nonsynonymous SNV P270T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 227501 chr8 26441387 26441387 C T rs560847160 DPYSL2 Synonymous SNV P172P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 227502 chr16 72845843 72845843 C A rs140481719 ZFHX3 Synonymous SNV S294S 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 17.59 227503 chr8 39564310 39564310 T A rs141828875 ADAM18 Nonsynonymous SNV I611K 0.004 0 0.007 0 5 0 0 2 0 0 0 0 24.6 227504 chr6 17764996 17764996 C T rs184686655 KIF13A Nonsynonymous SNV R1540H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 227505 chr8 42587331 42587331 C T CHRNB3 Nonsynonymous SNV P294L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 227506 chr3 48626213 48626213 T C rs147017402 COL7A1 Nonsynonymous SNV M817V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.846 227507 chr16 75298301 75298301 C A rs140007108 BCAR1 Nonsynonymous SNV C33F 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.132 227508 chr3 49716364 49716364 G A rs146708014 APEH Synonymous SNV S380S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 227509 chr3 50214207 50214207 A G rs144445925 SEMA3F Nonsynonymous SNV I87V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.017 227510 chr3 50330890 50330890 G C rs143380417 HYAL3 Nonsynonymous SNV I317M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.2 227511 chr6 26091097 26091097 G C HFE Nonsynonymous SNV M35I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 227512 chr6 26225645 26225645 C T H3C6 Nonsynonymous SNV S88F 0.005 0 0 2 6 0 0.005 0 0 0 0 0 25.1 227513 chr8 67064613 67064613 A G rs4434604 TRIM55 Synonymous SNV E329E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.438 227514 chr8 67428218 67428218 C T rs16932952 VXN Synonymous SNV C177C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.727 227515 chr8 6783553 6783553 C T rs75695501 DEFA6 Nonsynonymous SNV R2K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 227516 chr8 6794249 6794249 C A rs151046855 DEFA4 0 0 0.003 0 0 0 0 1 0 0 0 0 9.704 227517 chr8 6794399 6794399 G A rs28488529 DEFA4 Nonsynonymous SNV A8V 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 13.14 227518 chr8 6794400 6794400 C G rs28661751 DEFA4 Nonsynonymous SNV A8P 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 13.57 227519 chr16 84043407 84043407 C T rs372266076 SLC38A8 Synonymous SNV A430A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 227520 chr16 84212907 84212907 G C rs747175449 TAF1C Synonymous SNV P418P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.319 227521 chr14 24877498 24877498 C T rs374698906 NYNRIN Nonsynonymous SNV R208C 0.002 0 0 0 2 0 0 0 0 0 0 0 18 227522 chr17 55195773 55195773 C T AKAP1 Synonymous SNV A844A 0.002 0 0 0 2 0 0 0 0 0 0 0 22 227523 chr3 73433570 73433570 C G PDZRN3 Nonsynonymous SNV R414P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 227524 chr8 99148925 99148925 A G rs146559376 POP1 Synonymous SNV L409L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 227525 chr3 99569591 99569591 A G rs920270478 FILIP1L Nonsynonymous SNV M70T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.736 227526 chr15 31197145 31197145 C T rs749562915 FAN1 Synonymous SNV T93T 0.001 0.005 0.003 0 1 2 0 1 0 1 0 0 6.325 227527 chr10 21805804 21805804 - GCC SKIDA1 A318_G319insA 0 0 0 1 0 0 0.003 0 0 0 0 0 227528 chr9 1056568 1056568 C T rs371344054 DMRT2 Synonymous SNV S153S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 227529 chr6 42957392 42957392 C T rs770645870 PPP2R5D Nonsynonymous SNV S24L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.7 227530 chr17 674602 674602 T C rs141456440 GLOD4 Nonsynonymous SNV E113G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.53 227531 chr6 43029290 43029290 C G KLC4 Nonsynonymous SNV R73G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 227532 chr17 11671866 11671866 G A rs757516746 DNAH9 Nonsynonymous SNV D2423N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 227533 chr3 121178909 121178909 C T rs759454983 POLQ Synonymous SNV Q2380Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.31 227534 chr9 117124101 117124101 G A rs145136346 AKNA Synonymous SNV P550P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 9.474 227535 chr10 38241233 38241233 T A rs758284706 ZNF25 Nonsynonymous SNV Y398F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.19 227536 chr3 122632841 122632841 C A rs774913829 SEMA5B Nonsynonymous SNV A608S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 227537 chr9 124910517 124910517 A G NDUFA8 Synonymous SNV Y85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.742 227538 chr17 17897710 17897710 G T DRC3 Nonsynonymous SNV R230L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.539 227539 chr17 18053783 18053783 G C MYO15A Nonsynonymous SNV G2418A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 227540 chr6 56716296 56716296 T C rs755317929 DST Nonsynonymous SNV D37G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 227541 chr3 129252528 129252528 C T rs144211117 RHO Synonymous SNV S338S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 227542 chr9 131554806 131554806 G A rs7046372 TBC1D13 Synonymous SNV T112T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 227543 chr6 7231667 7231669 CCA - rs769732144 RREB1 T1114del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 227544 chr17 26671467 26671467 C A TNFAIP1 Nonsynonymous SNV N264K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 15.9 227545 chr9 135374141 135374141 T C rs370653556 CFAP77 Synonymous SNV Y85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 227546 chr17 30190389 30190389 C T rs1022754946 UTP6 Nonsynonymous SNV G595S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 28.5 227547 chr3 142122746 142122746 A G rs780177871 XRN1 Nonsynonymous SNV C657R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.41 227548 chr9 136028977 136028977 C G GBGT1 Nonsynonymous SNV C327S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.714 227549 chr5 34008025 34008025 C G rs377618695 AMACR Nonsynonymous SNV V34L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.3 227550 chr9 138678061 138678061 G A rs553389226 KCNT1 Nonsynonymous SNV V1021M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.143 227551 chr6 99831610 99831610 G A rs149717575 COQ3 Nonsynonymous SNV T66M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 227552 chr7 100174987 100174987 G A LRCH4 Nonsynonymous SNV R402W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 227553 chr17 79892846 79892846 G C rs752381854 PYCR1 Nonsynonymous SNV L166V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 227554 chr9 139656653 139656653 C - rs746254115 LCN15 M169Ifs*77 0 0 0.003 0 0 0 0 1 0 0 0 0 227555 chr5 41843682 41843682 T C rs4957429 OXCT1 Star tloss M2del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.431 227556 chr9 139840552 139840552 G A C8G Nonsynonymous SNV G121E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 227557 chr9 140115273 140115273 G A rs527888934 RNF208 Nonsynonymous SNV A131V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.578 227558 chr17 8132512 8132512 G A rs376349076 CTC1 Nonsynonymous SNV R1057C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 227559 chr15 40062729 40062729 T A FSIP1 Nonsynonymous SNV D70V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.7 227560 chr10 91162173 91162173 C T rs149743791 IFIT1 Synonymous SNV D47D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 7.112 227561 chr17 909328 909328 C T rs751168415 ABR Nonsynonymous SNV D309N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 227562 chr9 18777056 18777056 C T rs762111267 ADAMTSL1 Synonymous SNV G943G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 227563 chr11 62494682 62494682 C T HNRNPUL2-BSCL2 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.25 227564 chr18 12366980 12366980 T C rs368594369 AFG3L2 Nonsynonymous SNV Y179C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.8 227565 chr18 20548813 20548813 A G rs146649234 RBBP8 Nonsynonymous SNV H98R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 227566 chr3 193374903 193374903 G A rs542540811 OPA1 Nonsynonymous SNV R647H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 227567 chr11 64428311 64428311 C T rs373695786 NRXN2 Nonsynonymous SNV R669H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 227568 chr11 6461428 6461428 G T rs750058239 HPX Nonsynonymous SNV F101L 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 227569 chr7 105195533 105195533 G A rs777841156 RINT1 Synonymous SNV K169K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.5 227570 chr4 941587 941587 C A rs142678768 TMEM175 Synonymous SNV G20G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.545 227571 chr17 39672205 39672205 T C KRT15 Nonsynonymous SNV T320A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 227572 chr7 110764108 110764108 G A rs140070228 LRRN3 Nonsynonymous SNV S427N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 227573 chr9 712123 712123 A G rs144580853 KANK1 Nonsynonymous SNV K295E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 227574 chr17 40880868 40880868 C T rs760277636 EZH1 Nonsynonymous SNV R37Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 227575 chr9 79321769 79321769 C T rs765504205 PRUNE2 Synonymous SNV S1807S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.903 227576 chr7 127725799 127725799 C G rs141233912 SND1 Synonymous SNV A757A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.88 227577 chr9 80430552 80430552 T C rs200924131 GNAQ Synonymous SNV Q152Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.651 227578 chr9 96305746 96305746 G A rs201011345 FAM120A Nonsynonymous SNV V717I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 227579 chrX 110971431 110971431 A G rs748648454 ALG13 Nonsynonymous SNV T594A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.1 227580 chr11 76257090 76257090 C T EMSY Nonsynonymous SNV L1176F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 227581 chr11 113684631 113684631 C T rs184261650 USP28 Nonsynonymous SNV M240I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 227582 chr5 135587503 135587503 C G rs1043087601 TRPC7 Nonsynonymous SNV W355C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 227583 chrX 122755180 122755180 G A rs187919564 THOC2 Synonymous SNV N1348N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 227584 chrX 124097592 124097592 G C TENM1 Nonsynonymous SNV T4S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 227585 chrX 128895216 128895216 G A XPNPEP2 Nonsynonymous SNV G523S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 227586 chr11 76825382 76825382 G A rs782281851 CAPN5 Nonsynonymous SNV E201K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.93 227587 chr7 143036387 143036387 C A CLCN1 Stop gain C481X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 227588 chr4 25674770 25674770 A G SLC34A2 Nonsynonymous SNV I369M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 227589 chrX 138529334 138529334 C T rs17002116 SRD5A1P1 0 0 0.037 0 0 0 0 11 0 0 4 0 6.781 227590 chr7 143771577 143771577 A G rs199712223 OR2A25 Nonsynonymous SNV K89E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.72 227591 chrX 139795853 139795853 G A LINC00632 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 227592 chr11 118886576 118886576 T A RPS25 Synonymous SNV P119P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.06 227593 chrX 153051394 153051394 G A IDH3G Nonsynonymous SNV T372I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 227594 chrX 17819475 17819475 G T rs1018081035 RAI2 Nonsynonymous SNV S219Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.58 227595 chr7 1535838 1535838 C T rs3735659 INTS1 Synonymous SNV A555A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 19.17 227596 chr19 1047508 1047514 GGAGCAG - rs547447016 ABCA7 E709Afs*86 0.003 0 0 0 3 0 0 0 0 0 0 0 227597 chrX 37527667 37527667 A G rs149183932 LANCL3 Nonsynonymous SNV R384G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.011 227598 chr17 65052245 65052245 A G rs144606776 CACNG1 Nonsynonymous SNV Y176C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 227599 chr17 66364750 66364750 G A rs144631983 ARSG Nonsynonymous SNV V240M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.363 227600 chrX 54949233 54949233 C T rs965736575 TRO Nonsynonymous SNV P90S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 227601 chrX 69456972 69456972 G A rs765416872 AWAT1 Nonsynonymous SNV A112T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 227602 chrX 71131125 71131125 G A rs187743092 NHSL2 Nonsynonymous SNV R63H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 227603 chr19 12866725 12866725 C T rs137957583 BEST2 Synonymous SNV N308N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 227604 chrX 73046891 73046891 C T rs777507155 TSIX, XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 227605 chr19 14044214 14044214 C T rs146550820 PODNL1 Synonymous SNV V190V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.965 227606 chrX 79277859 79277859 G C rs761364666 TBX22 Nonsynonymous SNV E31Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 227607 chr19 14523404 14523404 C T DDX39A Nonsynonymous SNV V99M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 227608 chrX 83588765 83588765 A G HDX 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 227609 chrX 85156183 85156183 T C rs140093046 CHM Nonsynonymous SNV I419V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.069 227610 chr17 73045411 73045411 T C rs767906344 KCTD2 Synonymous SNV L146L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.061 227611 chr7 33644548 33644548 A G rs143963391 BBS9 Nonsynonymous SNV T708A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 10.98 227612 chr10 111893189 111893189 G A rs200035328 ADD3 Nonsynonymous SNV R613Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 22.2 227613 chr10 112838558 112838575 GGGCCCCGAGCGCAGCGC - rs780389097 ADRA2A E271_P276del 0 0 0.003 0 0 0 0 1 0 0 0 0 227614 chr17 74673721 74673721 G C rs146981546 MXRA7 Synonymous SNV G188G 0 0.008 0 2 0 3 0.005 0 0 0 0 0 12.56 227615 chr17 74684530 74684530 C G rs1034617987 MXRA7 Nonsynonymous SNV G67A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 5.184 227616 chr4 106156935 106156935 T - TET2 L615Sfs*24 0 0.003 0 0 0 1 0 0 0 0 0 0 227617 chr19 17692167 17692167 C T rs754846924 COLGALT1 Nonsynonymous SNV R595W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 227618 chr17 76117686 76117686 G A rs148585370 TMC6 Nonsynonymous SNV A445V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.101 227619 chr7 44191899 44191899 C T rs568894624 GCK Nonsynonymous SNV E112K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 227620 chr10 11805334 11805334 C T rs199630653 ECHDC3 Nonsynonymous SNV R235W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 227621 chr4 115544699 115544699 G T rs754186990 UGT8 Nonsynonymous SNV K221N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 227622 chr4 123167847 123167847 T C rs75923324 KIAA1109 Nonsynonymous SNV C1732R 0 0.003 0 0 0 1 0 0 0 0 0 0 28 227623 chr16 20352584 20352584 G A rs143583842 UMOD Nonsynonymous SNV T469M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 227624 chr19 19737792 19737792 A G rs757813231 LPAR2 Nonsynonymous SNV L101P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.008 227625 chr7 48278997 48278997 - GGTA rs748634549 ABCA13 Stop gain Q353Rfs*2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 227626 chr19 20229146 20229146 T C ZNF90 Synonymous SNV D261D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 227627 chr4 141446677 141446677 A G rs537745308 ELMOD2 Nonsynonymous SNV Q32R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 227628 chr16 22256045 22256045 G A rs774362191 EEF2K Nonsynonymous SNV R114Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 227629 chr16 23695367 23695367 C A PLK1 Nonsynonymous SNV S331R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 227630 chr16 25251241 25251241 G A rs772217177 ZKSCAN2 Nonsynonymous SNV R934W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 227631 chr19 30934733 30934733 G A rs143675889 ZNF536 Synonymous SNV L88L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.007 227632 chr12 133365853 133365853 G A rs187167998 GOLGA3 Synonymous SNV R857R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 227633 chr4 155720597 155720597 A G rs145773267 RBM46 Nonsynonymous SNV Y428C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 227634 chr4 156294480 156294480 A G rs145507132 MAP9 Nonsynonymous SNV S97P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 227635 chr17 80196817 80196817 G A rs145651525 SLC16A3 Nonsynonymous SNV G455R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 227636 chr17 80209276 80209276 G A rs148622760 CSNK1D Synonymous SNV F288F 0 0.003 0.01 0 0 1 0 3 0 0 0 0 16.24 227637 chr17 80763803 80763803 G A rs905024253 TBCD Nonsynonymous SNV G335S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.005 227638 chr19 34887208 34887208 C T rs141579625 GPI Synonymous SNV G327G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 227639 chr19 34924277 34924277 C T rs140463684 UBA2 Synonymous SNV F106F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 227640 chr17 80790036 80790036 C T rs145679392 ZNF750 Nonsynonymous SNV D99N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 13.8 227641 chr16 3024120 3024120 C T rs145047506 PKMYT1 Synonymous SNV L328L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.709 227642 chr10 1405543 1405543 G T ADARB2 Synonymous SNV R253R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 227643 chr19 36124035 36124035 C T RBM42 Nonsynonymous SNV H160Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 227644 chr7 73932637 73932637 G A rs782196005 GTF2IRD1 Nonsynonymous SNV R229H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 227645 chr16 31213511 31213511 C T PYCARD Synonymous SNV A96A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 227646 chr16 3165484 3165484 G A rs144841352 ZNF205 Synonymous SNV S62S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.189 227647 chr10 27499787 27499787 C T ACBD5 Nonsynonymous SNV R210Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 227648 chr10 28897336 28897336 G A rs771021206 WAC Nonsynonymous SNV V278M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 227649 chr16 3707066 3707066 C T rs150933932 DNASE1 Nonsynonymous SNV A168V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 227650 chr7 92733037 92733037 C T rs147587391 SAMD9 Nonsynonymous SNV V792I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 227651 chr7 97862244 97862244 C A rs369426783 TECPR1 Synonymous SNV T571T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.79 227652 chr6 33644809 33644809 G - rs773134340 ITPR3 G1156Afs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 227653 chr16 53488753 53488757 AGGTG - rs755985698 RBL2 K393Ifs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 227654 chr5 7861268 7861268 - ACTT rs772742420 FASTKD3 Frameshift insertion V627Sfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 227655 chr8 10465514 10465540 CACCTTCTGACTTTGGCTGGGCCTCTA - RP1L1 V2023_G2031del 0 0 0 1 0 0 0.003 0 0 0 0 0 227656 chr5 13820457 13820457 G C DNAH5 Nonsynonymous SNV T2280R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 227657 chr5 13891201 13891201 T C rs138346465 DNAH5 Nonsynonymous SNV N821D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 227658 chr19 41094686 41094686 G A rs766943570 SHKBP1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 227659 chr8 10470791 10470791 G A rs767430743 RP1L1 Nonsynonymous SNV R273W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 227660 chr8 104922575 104922575 A G rs778457742 RIMS2 Nonsynonymous SNV T359A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.93 227661 chr12 49168789 49168789 G T rs77913913 ADCY6 Nonsynonymous SNV L677M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.7 227662 chr8 105503760 105503760 A C LRP12 Nonsynonymous SNV V555G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 227663 chr19 42861029 42861029 G A rs771000965 MEGF8 Nonsynonymous SNV A1509T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 227664 chr12 50189568 50189568 G A rs2720299 NCKAP5L Nonsynonymous SNV T692I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.57 227665 chr10 60148538 60148538 A C TFAM Nonsynonymous SNV M134L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 227666 chr12 50749595 50749595 T G FAM186A Synonymous SNV L340L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.502 227667 chr12 51072591 51072591 C G rs58366731 DIP2B Nonsynonymous SNV T349S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.59 227668 chr12 51354842 51354843 GA - rs554369152 HIGD1C R63Sfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 227669 chr8 125094653 125094653 T C rs755112732 FER1L6 Nonsynonymous SNV Y1449H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 227670 chr10 70719812 70719812 A G rs141331906 DDX21 Nonsynonymous SNV K45R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 227671 chr16 68013589 68013589 C T DPEP3 Nonsynonymous SNV G123S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.708 227672 chr16 70187365 70187365 C T rs201643448 PDPR Synonymous SNV Y608Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.57 227673 chr16 70284990 70284990 G A rs149061783 EXOSC6 Nonsynonymous SNV P272S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 227674 chr6 49426868 49426868 G - rs1064793768 MMUT W105Gfs*75 0.002 0 0 0 2 0 0 0 0 0 0 0 227675 chr16 70285102 70285102 T G rs11859730 EXOSC6 Synonymous SNV T234T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.118 227676 chr16 70285135 70285135 G T rs144728576 EXOSC6 Synonymous SNV A223A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.11 227677 chr19 45176140 45176140 C T rs146626366 CEACAM19 Nonsynonymous SNV R110C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 227678 chr16 72992196 72992196 C T rs111320371 ZFHX3 Nonsynonymous SNV V617I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.673 227679 chr16 74670291 74670291 C G rs545140006 RFWD3 Nonsynonymous SNV S182T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 227680 chr16 75263827 75263827 C T rs762714764 BCAR1 Nonsynonymous SNV R522Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.254 227681 chr19 45781855 45781855 G A MARK4 Nonsynonymous SNV G330R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 227682 chr6 55147083 55147083 G A rs759921794 HCRTR2 Nonsynonymous SNV R389H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 227683 chr10 85944516 85944516 G T rs76221724 C10orf99 Nonsynonymous SNV Q80H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 227684 chr19 45976012 45976012 C A rs151110067 FOSB Nonsynonymous SNV S217R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 227685 chr10 86259658 86259658 C T rs192826139 CCSER2 Nonsynonymous SNV P212S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.58 227686 chr19 47422792 47422792 A G rs200029653 ARHGAP35 Nonsynonymous SNV N287S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.921 227687 chr8 144671279 144671279 C T rs146696971 EEF1D Nonsynonymous SNV A325T 0 0 0 1 0 0 0.003 0 0 0 0 0 26 227688 chr19 48048307 48048307 G A rs553061792 ZNF541 Synonymous SNV S493S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 3.83 227689 chr8 144993519 144993519 C T rs367771138 PLEC Synonymous SNV Q3476Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.34 227690 chr21 36042712 36042712 C G CLIC6 Nonsynonymous SNV S342C 0 0.005 0 0 0 2 0 0 0 1 0 0 7.45 227691 chr16 85694881 85694881 G A GSE1 Synonymous SNV L486L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.17 227692 chr5 90106991 90106991 A G rs752282559 ADGRV1 Nonsynonymous SNV D5305G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 227693 chr19 49378964 49378964 C T rs538298636 PPP1R15A Nonsynonymous SNV R587W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 227694 chr8 145772901 145772901 G A rs770006544 ARHGAP39 Synonymous SNV A523A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.042 227695 chr19 49814310 49814310 C T rs144293339 SLC6A16 Nonsynonymous SNV V99I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.009 227696 chr5 107006239 107006239 T C EFNA5 Nonsynonymous SNV K26E 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 227697 chr19 50001018 50001018 C T rs375390423 SNORD35B 0.001 0 0 0 1 0 0 0 0 0 0 0 8.189 227698 chr5 112399863 112399863 T C rs766224201 MCC Synonymous SNV G487G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 227699 chr12 69645076 69645076 T C rs141570992 CPSF6 Synonymous SNV Y76Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.086 227700 chr8 2063855 2063855 G A MYOM2 Nonsynonymous SNV G1095E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 227701 chr19 50971029 50971029 G A rs140370774 FAM71E1 Synonymous SNV L199L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.388 227702 chr5 118485985 118485985 T G DMXL1 Nonsynonymous SNV V1488G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 227703 chr11 10503771 10503771 A G AMPD3 Synonymous SNV P37P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 227704 chr19 1533968 1533968 C T rs967384597 PLK5 Synonymous SNV P251P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.416 227705 chr19 1567694 1567694 C G MEX3D Nonsynonymous SNV G122R 0 0.003 0 0 0 1 0 0 0 0 0 0 22 227706 chr5 131877798 131877798 C T IL5 Nonsynonymous SNV G72D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.587 227707 chr11 10875370 10875370 A G rs199792950 ZBED5 Nonsynonymous SNV Y375H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.913 227708 chr11 111943878 111943878 A G PIH1D2 Synonymous SNV G7G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.35 227709 chr5 138727945 138727945 G A rs372561851 PROB1 Synonymous SNV P942P 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.31 227710 chr11 6414455 6414455 G C SMPD1 Synonymous SNV G367G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 9.392 227711 chr5 140264055 140264055 G A PCDHA13 Synonymous SNV P734P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.929 227712 chr6 152644695 152644695 G A rs747989712 SYNE1 Nonsynonymous SNV L5208F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.09 227713 chr11 120349059 120349059 G A ARHGEF12 Nonsynonymous SNV V1224I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 227714 chr17 19316635 19316635 C T rs749018409 RNF112 Synonymous SNV L211L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.087 227715 chr8 67873811 67873811 T C rs780872336 TCF24 Nonsynonymous SNV T64A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 227716 chr17 19648336 19648336 A T rs777415702 ALDH3A1 Nonsynonymous SNV L36Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 227717 chr19 55539209 55539209 A C GP6 Nonsynonymous SNV L116R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 227718 chr5 149374943 149374943 T A rs750176600 TIGD6 Nonsynonymous SNV K323N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 227719 chr8 87242492 87242492 C G SLC7A13 Nonsynonymous SNV E5D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.11 227720 chr19 24270112 24270112 G T ZNF254 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 227721 chr17 21319151 21319151 C - KCNJ12, KCNJ18 I167Sfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 227722 chr6 161174067 161174067 A G PLG Nonsynonymous SNV I803V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 227723 chr17 27183302 27183302 G C rs780960133 ERAL1 Nonsynonymous SNV V102L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.954 227724 chr11 6942934 6942934 T C rs150886951 OR2D3 Synonymous SNV Y234Y 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 0.001 227725 chr5 158747440 158747440 C G rs753481336 IL12B Nonsynonymous SNV V191L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 227726 chr9 104356815 104356815 T G rs771888538 PPP3R2 Nonsynonymous SNV Q130P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 227727 chr5 170305138 170305138 A G rs35072614 RANBP17 Nonsynonymous SNV Y19C 0 0.005 0 0 0 2 0 0 0 1 0 0 26 227728 chr19 58324694 58324694 G A rs748850603 ZNF552 Nonsynonymous SNV T43M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 227729 chr17 36666504 36666504 C T ARHGAP23 Nonsynonymous SNV R1258C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 227730 chr9 116029710 116029710 T C rs182199537 CDC26 Nonsynonymous SNV K31E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 227731 chr19 38780769 38780769 C T rs376894698 SPINT2 Synonymous SNV T77T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.68 227732 chr19 39589775 39589775 C A rs199766686 ACP7 Synonymous SNV L166L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.43 227733 chr6 13281302 13281302 C T rs565204912 LOC100130357 0 0.003 0 0 0 1 0 0 0 0 0 0 6.082 227734 chr11 36615615 36615615 C G rs148508754 RAG2 Nonsynonymous SNV G35A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24 227735 chr11 92577352 92577352 G A rs200032318 FAT3 Nonsynonymous SNV A3607T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 227736 chr11 4566513 4566513 C A rs11032738 OR52M1 Synonymous SNV I31I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 227737 chr11 46529899 46529899 G A rs143880001 AMBRA1 Synonymous SNV Y608Y 0 0 0.01 0 0 0 0 3 0 0 0 0 8.654 227738 chr6 26505363 26505363 C A rs368233152 BTN1A1 Nonsynonymous SNV A213E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.24 227739 chr11 47183073 47183073 C T rs11551406 C11orf49 Synonymous SNV L285L 0 0 0.014 0 0 0 0 4 0 0 0 0 16.65 227740 chr6 27114569 27114569 T C rs764224999 H2BC12 Synonymous SNV E3E 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 1.383 227741 chr11 47371569 47371569 G A rs397516054 MYBPC3 Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.53 227742 chr6 28251908 28251908 A G rs756605934 PGBD1 Synonymous SNV T106T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.031 227743 chr12 102147249 102147249 A C GNPTAB Nonsynonymous SNV L1168R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.7 227744 chr6 36762419 36762419 C A CPNE5 Nonsynonymous SNV A138S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 227745 chr17 42455111 42455111 C A rs760027064 ITGA2B Nonsynonymous SNV R714S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 227746 chr12 108011971 108011971 G A rs56296886 BTBD11 Synonymous SNV K293K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.09 227747 chr6 41613867 41613867 A G MDFI Nonsynonymous SNV Q27R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.69 227748 chr6 43168540 43168540 C A rs2841640 CUL9 Synonymous SNV I1205I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.18 227749 chr6 43523589 43523589 A G rs6916623 XPO5 Synonymous SNV D475D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 4.002 227750 chr6 43581898 43581898 G A rs766352550 POLH Synonymous SNV S458S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.977 227751 chr6 43642963 43642963 G C rs35480020 MRPS18A Nonsynonymous SNV P141R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 227752 chr6 44310926 44310926 C G rs776569375 SPATS1 Nonsynonymous SNV P32A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.842 227753 chr14 23597331 23597331 C T rs149192477 SLC7A8 Synonymous SNV P222P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.03 227754 chr2 152320364 152320364 C T rs762145294 RIF1 Nonsynonymous SNV R1444C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 227755 chr14 23995073 23995073 G C rs566304076 ZFHX2 Nonsynonymous SNV Q1360E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24 227756 chr17 49043642 49043642 G A rs148354979 SPAG9 Synonymous SNV G1175G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.117 227757 chr6 49439858 49439858 C G rs200031253 CENPQ Synonymous SNV T80T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.731 227758 chr7 99757557 99757557 G A rs748183670 GAL3ST4 Synonymous SNV S485S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.669 227759 chr2 162762161 162762161 G A rs760953228 SLC4A10 Synonymous SNV G508G 0 0.003 0 0 0 1 0 0 0 0 0 0 11 227760 chr9 140147585 140147585 C A rs200997177 STPG3 Nonsynonymous SNV A272D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.25 227761 chr17 56435154 56435154 G A rs371820221 RNF43 Synonymous SNV S534S 0.004 0 0 0 5 0 0 0 0 0 0 0 8.049 227762 chr17 56604313 56604313 C T rs200161032 SEPTIN4 Synonymous SNV T21T 0.004 0 0 0 5 0 0 0 0 0 0 0 13.65 227763 chr1 116675881 116675881 C T rs139611442 MAB21L3 Synonymous SNV F328F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.27 227764 chr14 47120870 47120870 G T rs141953926 RPL10L Synonymous SNV R24R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.135 227765 chr9 14797613 14797615 TCA - rs748112976 FREM1 D1241del 0 0 0 1 0 0 0.003 0 0 0 0 0 227766 chr17 63149548 63149548 G A rs369684625 RGS9 Synonymous SNV A22A 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 11.55 227767 chr2 175326216 175326216 G A rs1040797683 GPR155 Nonsynonymous SNV P464S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28 227768 chr6 90364025 90364025 A G rs772282039 MDN1 Synonymous SNV S5173S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.121 227769 chr1 1254745 1254745 G A rs1015038108 INTS11 Synonymous SNV F120F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 227770 chr6 90453376 90453376 G A rs757919469 MDN1 Synonymous SNV Y1412Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.824 227771 chr14 58036580 58036580 G T SLC35F4 Nonsynonymous SNV T350N 0.001 0 0 0 1 0 0 0 0 0 0 0 27 227772 chr6 90566895 90566895 A G rs767371851 CASP8AP2 Synonymous SNV E131E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.54 227773 chr6 105573420 105573420 G A rs2275289 BVES Nonsynonymous SNV R129W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 34 227774 chr6 107955092 107955092 A C rs373732245 SOBP Synonymous SNV P348P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 227775 chr17 67215791 67215791 A T rs777272556 ABCA10 Nonsynonymous SNV V142D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 227776 chr2 179604912 179604912 C T rs781206839 TTN Nonsynonymous SNV V3987M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.288 227777 chr9 35811616 35811616 A G rs141970160 SPAG8 Nonsynonymous SNV S143P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.042 227778 chr2 179610805 179610805 C T rs776175211 TTN Nonsynonymous SNV R5441Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.007 227779 chr18 54363517 54363517 A G rs750295159 WDR7 Nonsynonymous SNV T468A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 227780 chr11 6048771 6048771 G T OR56A1 Nonsynonymous SNV T55N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 227781 chr9 72064634 72064634 C T APBA1 Nonsynonymous SNV V683M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 227782 chr9 79117730 79117730 A G rs373599348 GCNT1 Nonsynonymous SNV M145V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 227783 chr18 61463523 61463523 A G rs35672333 SERPINB7 Synonymous SNV K103K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.175 227784 chr14 74825122 74825122 A G VRTN Nonsynonymous SNV S546G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 227785 chr11 62378910 62378910 G A rs199907407 EML3 Nonsynonymous SNV P61S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 227786 chr11 63072301 63072301 T C SLC22A10 Nonsynonymous SNV F513S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 227787 chr9 97912237 97912237 C T rs754705988 FANCC Synonymous SNV E218E 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.16 227788 chr6 151055068 151055068 A G rs749448324 PLEKHG1 Nonsynonymous SNV E143G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.961 227789 chr7 139415925 139415925 T G rs770775967 HIPK2 Synonymous SNV P303P 0.004 0 0 1 5 0 0.003 0 0 0 0 0 1.015 227790 chr18 9359989 9359989 C T rs201465680 TWSG1 Nonsynonymous SNV P48L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 227791 chr11 65269313 65269313 G A rs960180578 MALAT1, TALAM1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.731 227792 chrX 115590017 115590017 T C SLC6A14 Nonsynonymous SNV Y609H 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 227793 chr6 157099231 157099231 C G rs555625059 ARID1B Synonymous SNV G56G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.981 227794 chr11 65546138 65546138 C T rs745969436 AP5B1 Nonsynonymous SNV R609H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 227795 chrX 119007305 119007305 G C rs140064980 NDUFA1 Synonymous SNV L47L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 4.707 227796 chr11 6565416 6565416 G A rs763229999 DNHD1 Nonsynonymous SNV E1232K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 227797 chr11 6565453 6565453 G A DNHD1 Stop gain W1244X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 227798 chr6 160484514 160484514 C T rs545952906 IGF2R Synonymous SNV N1246N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.08 227799 chr11 6790182 6790182 G - rs757107512 OR2AG2 L3Sfs*16 0 0 0.007 0 0 0 0 2 0 0 0 0 227800 chr17 79082774 79082774 C T rs142856268 BAIAP2 Synonymous SNV S514S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 227801 chr15 29428680 29428680 C T rs781245557 FAM189A1 Synonymous SNV P272P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.38 227802 chr19 5827966 5827966 C T NRTN Synonymous SNV L126L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.3 227803 chrX 152818698 152818698 G A rs781901998 ATP2B3 Nonsynonymous SNV V677M 0.002 0 0 1 2 0 0.003 0 1 0 0 0 Uncertain significance 32 227804 chr19 14091448 14091448 C T rs780581115 RFX1 Synonymous SNV T225T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.43 227805 chr19 58867724 58867724 - CTGCCGCGGAAGGCCTTGCCGCATTCTGCGCAGGCGAAGGGTCGCTCTCCCGTGTGCGAAAGCCGGTGGTGCGCCAGGCCGGAA ZNF497 S427_E428insGLAHHRLSHTGERPFACAECGKAFRGSS 0 0.003 0 0 0 1 0 0 0 0 0 0 227806 chrX 153174622 153174622 G C rs781857099 ARHGAP4 Nonsynonymous SNV P837A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.497 227807 chr19 6187702 6187702 C T rs533945405 ACSBG2 Synonymous SNV T591T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 227808 chr11 73811643 73811643 C T rs117535770 C2CD3 Nonsynonymous SNV V887M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 23.1 227809 chr7 4008969 4008969 G A rs140446821 SDK1 Nonsynonymous SNV V543I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 227810 chr1 17322756 17322756 C T rs774585729 ATP13A2 Nonsynonymous SNV R444Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 227811 chr19 6746168 6746168 G A rs767414808 TRIP10 Synonymous SNV P371P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 227812 chr19 7075696 7075696 G A rs200899402 ZNF557 Nonsynonymous SNV R21Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.983 227813 chr11 7631653 7631653 G A PPFIBP2 Synonymous SNV E63E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 227814 chr1 17597646 17597646 C T rs143396189 PADI3 Synonymous SNV A340A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.03 227815 chr8 10467652 10467652 G A rs4840501 RP1L1 Nonsynonymous SNV A1319V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.797 227816 chr11 77921055 77921055 G T USP35 Nonsynonymous SNV K718N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.951 227817 chr7 15725607 15725607 C T rs148170403 MEOX2 Nonsynonymous SNV G141R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 227818 chr2 239040154 239040154 C T rs138171057 ESPNL Synonymous SNV P565P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.693 227819 chrX 48759727 48759727 G A rs782103312 PQBP1 Synonymous SNV R70R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.32 227820 chr2 23914667 23914667 G A rs575107369 KLHL29 Synonymous SNV S401S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.15 227821 chrX 49069236 49069236 C T rs782330306 CACNA1F Nonsynonymous SNV R1278H 0 0 0 3 0 0 0.008 0 0 0 0 1 Uncertain significance 26.3 227822 chrX 51150033 51150033 G C rs782633330 EZHIP Synonymous SNV S55S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.846 227823 chr7 20784975 20784975 G A ABCB5 Nonsynonymous SNV D670N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 227824 chr11 88033702 88033702 G A rs903905604 CTSC Synonymous SNV N251N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 227825 chr7 21892155 21892155 G A rs765797284 DNAH11 Nonsynonymous SNV R3656H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 227826 chr1 183525366 183525366 - TGA NCF2 0.003 0 0 0 3 0 0 0 0 0 0 0 227827 chr18 29099850 29099850 G A rs121913013 DSG2 Nonsynonymous SNV V56M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 227828 chr11 9596026 9596026 G C rs544177586 WEE1 Synonymous SNV L182L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.439 227829 chr18 3449634 3449634 C T rs973121303 TGIF1 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 227830 chr7 37780586 37780586 G T GPR141 Nonsynonymous SNV L197F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.73 227831 chr12 103352584 103352584 G C ASCL1 Nonsynonymous SNV V188L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 227832 chr18 47310279 47310279 C G rs142211915 ACAA2 Nonsynonymous SNV V378L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 227833 chr7 42972054 42972054 C G rs542987844 MRPL32 Stop gain Y23X 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 227834 chr18 47812536 47812536 C G CXXC1 Nonsynonymous SNV E105D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 227835 chr7 44092513 44092513 C T rs368574883 DBNL Synonymous SNV H100H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.96 227836 chr1 20141245 20141245 G A rs148594830 RNF186 Nonsynonymous SNV S117L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 227837 chr7 45125444 45125444 G A rs528438032 NACAD Nonsynonymous SNV P112L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 227838 chr12 10999785 10999785 T C rs779631523 PRR4 Synonymous SNV P94P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 227839 chr7 48391861 48391861 C T rs376643039 ABCA13 Nonsynonymous SNV R3489W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 227840 chr1 20490613 20490615 GCA - rs768390796 PLA2G2C C105del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 227841 chr7 64167793 64167793 C T rs770912619 ZNF107 Nonsynonymous SNV L408F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 227842 chr18 63530059 63530059 A G CDH7 Synonymous SNV V590V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.137 227843 chr7 73085497 73085497 C T VPS37D Nonsynonymous SNV P183S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 227844 chr12 98909594 98909594 C T rs370309699 TMPO-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 12 227845 chr12 99020163 99020163 C T rs61753343 IKBIP Nonsynonymous SNV V227I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.13 227846 chr1 117576550 117576550 G A rs12097758 CD101 Nonsynonymous SNV V965I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.204 227847 chr1 117576619 117576619 C T rs12067543 CD101 Nonsynonymous SNV R988C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 227848 chr8 110520472 110520472 G A rs200522870 PKHD1L1 Nonsynonymous SNV G3792S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 227849 chr7 87839427 87839427 T C rs779760808 SRI Nonsynonymous SNV M90V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 227850 chr7 92143238 92143238 G A rs376883207 PEX1 Nonsynonymous SNV A428V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.4 227851 chr1 225190524 225190524 G C DNAH14 Nonsynonymous SNV L290F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 227852 chr13 20763341 20763341 C T rs111033196 GJB2 Nonsynonymous SNV R127H 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 227853 chr19 10677942 10677942 G A CDKN2D Nonsynonymous SNV A98V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28 227854 chr12 1963157 1963157 T C rs773004518 CACNA2D4 Nonsynonymous SNV M736V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 227855 chr1 150482145 150482145 G A rs145971597 ECM1 Nonsynonymous SNV A44T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 31 227856 chr1 150974941 150974941 C T rs368665287 MINDY1 Synonymous SNV E99E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.418 227857 chr1 151239681 151239681 C T rs1802788 PSMD4 Synonymous SNV P335P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.07 227858 chr12 2964508 2964508 G C TEX52 Synonymous SNV A59A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.826 227859 chr19 41893501 41893501 C T rs201468947 EXOSC5 Nonsynonymous SNV R178Q 0 0.005 0 0 0 2 0 0 0 0 0 0 24.6 227860 chr1 235543444 235543444 G A rs981054162 TBCE Nonsynonymous SNV G27D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 227861 chr1 154842202 154842202 - GCTGCTGCTGCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 227862 chr19 42410098 42410098 C T rs144745694 ARHGEF1 Synonymous SNV T771T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 227863 chr19 42584213 42584213 A G rs373910901 ZNF574 Synonymous SNV Q575Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.252 227864 chr19 42813876 42813876 T A rs774297291 PRR19 Nonsynonymous SNV V47E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.94 227865 chr19 16338405 16338405 G C AP1M1 Nonsynonymous SNV Q240H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.7 227866 chr12 48189731 48189731 G C rs575150995 HDAC7 Synonymous SNV S271S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.228 227867 chr13 49841826 49841826 G A CDADC1 Nonsynonymous SNV D211N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 227868 chr13 52345553 52345555 ATT - rs760151168 DHRS12 I212del 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 227869 chr12 49319104 49319104 C G FKBP11 Synonymous SNV R36R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 227870 chr12 49933251 49933251 A G KCNH3 Nonsynonymous SNV I18V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 227871 chr12 49998306 49998306 G C FAM186B Nonsynonymous SNV L38V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 227872 chr9 5656624 5656624 A G rs774405584 RIC1 Synonymous SNV S62S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.04 227873 chr12 52565493 52565493 C T rs764644847 KRT80 Nonsynonymous SNV D395N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 227874 chr7 100880689 100880689 G A rs372695231 CLDN15 Synonymous SNV G58G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.48 227875 chr19 19308409 19308409 C T rs755182393 RFXANK Synonymous SNV T116T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 8.048 227876 chr7 107600969 107600969 G A rs539713485 LAMB1 Synonymous SNV S745S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.73 227877 chr14 102548151 102548151 A G rs11547523 HSP90AA1 Synonymous SNV D699D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.33 227878 chr14 102700117 102700117 G C rs3818664 MOK Synonymous SNV P95P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.272 227879 chr7 123276982 123276982 T C rs369545174 ASB15 Nonsynonymous SNV Y572H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 227880 chr7 127013421 127013421 T A rs374406949 ZNF800 Nonsynonymous SNV S657C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 227881 chr3 129324703 129324703 G C rs139286065 PLXND1 Synonymous SNV S260S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.42 227882 chr19 22271925 22271925 C T rs186838066 ZNF257 Nonsynonymous SNV P382L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.61 227883 chr12 55027002 55027002 T G LACRT Nonsynonymous SNV D25A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 227884 chr19 23329114 23329114 C T rs541136842 ZNF730 Nonsynonymous SNV P423L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 227885 chr14 104145809 104145809 A G rs775102527 KLC1 Nonsynonymous SNV N526S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.248 227886 chr3 131220550 131220550 G A rs79534309 MRPL3 Synonymous SNV I34I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.55 227887 chr9 35295744 35295744 G A UNC13B Nonsynonymous SNV S193N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.4 227888 chr12 56295707 56295707 T C rs116976028 PYM1 Synonymous SNV A187A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.55 227889 chr7 133689803 133689803 C T rs142139612 EXOC4 Synonymous SNV S829S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 227890 chr12 57606021 57606021 G C rs142605462 LRP1 Nonsynonymous SNV D4491H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 227891 chr7 138595985 138595985 T A rs185695096 KIAA1549 Nonsynonymous SNV I1018L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.54 227892 chr12 57869363 57869363 G C ARHGAP9 Synonymous SNV G138G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 227893 chr7 139225107 139225107 G A rs374364700 CLEC2L Synonymous SNV E77E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 227894 chr9 74324335 74324335 A G rs368538401 CEMIP2 Nonsynonymous SNV M879T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.6 227895 chr7 139726099 139726099 G A rs774606630 PARP12 Nonsynonymous SNV R560W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 227896 chr12 6422856 6422856 G A rs373567911 PLEKHG6 Nonsynonymous SNV R35Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 227897 chr7 140395580 140395580 A G NDUFB2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.605 227898 chr7 141341613 141341613 C A rs139547145 AGK Nonsynonymous SNV L294I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.77 227899 chr7 141730208 141730208 T C rs781818371 MGAM Nonsynonymous SNV F423S 0 0.003 0 0 0 1 0 0 0 0 0 0 30 227900 chr12 6636063 6636063 C T rs141629311 NCAPD2 Nonsynonymous SNV S914F 0 0 0.007 1 0 0 0.003 2 0 0 0 0 20.3 227901 chr1 32674792 32674792 T C DCDC2B Nonsynonymous SNV F33S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 227902 chr1 32674793 32674793 C T rs749183467 DCDC2B Synonymous SNV F33F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.996 227903 chr12 70072550 70072550 C A BEST3 Nonsynonymous SNV R40I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 227904 chr1 3334514 3334514 G A rs140540302 PRDM16 Synonymous SNV T938T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.65 227905 chr7 148963613 148963613 C T rs747397135 ZNF783 Nonsynonymous SNV T71M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 227906 chr1 3670691 3670691 A G rs75854782 CCDC27 Nonsynonymous SNV K110E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 227907 chr3 16475422 16475422 G T RFTN1 Nonsynonymous SNV H90N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 227908 chr7 150776726 150776726 G A rs77616482 FASTK Synonymous SNV G122G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.805 227909 chr14 24766073 24766073 C T rs756858078 DHRS1 Synonymous SNV G55G 0 0 0 2 0 0 0.005 0 0 0 0 0 16.21 227910 chr1 183196786 183196786 G A rs148065050 LAMC2 Synonymous SNV P474P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 227911 chr14 31598080 31598083 ATTA - HECTD1 N1499Kfs*19 0 0 0 1 0 0 0.003 0 0 0 0 0 227912 chr12 98925578 98925578 G C rs762703950 TMPO Nonsynonymous SNV G176A 0 0 0.003 0 0 0 0 1 0 0 0 0 26 227913 chr19 52888473 52888473 C T rs528378258 ZNF880 Nonsynonymous SNV P547L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 227914 chr1 45241578 45241578 C T rs745782061 SNORD55 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 227915 chr1 46499589 46499589 G A rs368597708 MAST2 Nonsynonymous SNV R1218H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 227916 chr1 196973860 196973860 T C CFHR5 Nonsynonymous SNV V467A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.013 227917 chr9 117359899 117359899 A G rs145627791 ATP6V1G1 Nonsynonymous SNV Q78R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.22 227918 chr1 47685444 47685444 C A rs753933857 TAL1 Nonsynonymous SNV R156L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 227919 chr13 111294847 111294847 C G rs192532265 CARS2 Nonsynonymous SNV E480Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 0.074 227920 chr9 123605126 123605126 T C rs2297575 PSMD5 Nonsynonymous SNV E21G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.2 227921 chr8 11167040 11167040 C T rs753050669 MTMR9 Nonsynonymous SNV H272Y 0 0.003 0 0 0 1 0 0 0 0 0 0 19.96 227922 chr3 20027675 20027675 C T rs115393665 PP2D1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.6 227923 chr19 55790886 55790886 - GCCGCCGCCGCCGCCGCC HSPBP1 G76_S77insGGGGGG 0 0.003 0 0 0 1 0 0 0 0 0 0 227924 chr19 55828185 55828187 GAG - rs781228192 TMEM150B L158del 0 0.003 0 0 0 1 0 0 0 0 0 0 227925 chr1 6228236 6228236 A G CHD5 Nonsynonymous SNV C61R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 227926 chr8 20110364 20110364 C G rs150068489 LZTS1 Nonsynonymous SNV E360Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.6 227927 chr1 207134379 207134379 C T FCAMR Nonsynonymous SNV R281K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.606 227928 chr8 21995966 21995966 G A rs375689261 REEP4 Nonsynonymous SNV A218V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.823 227929 chr8 22398232 22398232 G A rs558233561 PPP3CC Nonsynonymous SNV A476T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 227930 chr19 45322109 45322109 C T rs150798131 BCAM Nonsynonymous SNV R436C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 227931 chr1 68591980 68591980 T C rs749937551 WLS Nonsynonymous SNV T428A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 227932 chr8 27145270 27145270 G A rs533921646 TRIM35 Nonsynonymous SNV R427C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 227933 chr13 50050805 50050805 A G SETDB2, SETDB2-PHF11 Nonsynonymous SNV K167E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 227934 chr1 215345445 215345445 A G KCNK2 Nonsynonymous SNV I244V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.7 227935 chr19 57325509 57325509 C T rs55939376 PEG3 Nonsynonymous SNV G1279E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 227936 chr13 73491230 73491230 G A rs765799731 PIBF1 Synonymous SNV E552E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.451 227937 chr19 58046613 58046613 G A rs767554571 ZNF549 Synonymous SNV E45E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.97 227938 chr13 95275361 95275362 AG - GPR180 0 0 0.003 0 0 0 0 1 0 0 0 0 227939 chr1 89658671 89658671 G A rs759400322 GBP4 Nonsynonymous SNV R196W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 227940 chr14 102510304 102510304 A G rs745717505 DYNC1H1 Synonymous SNV S4202S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.084 227941 chr1 9098073 9098073 G A rs866854858 SLC2A5 Synonymous SNV P248P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.382 227942 chr1 226178976 226178976 T C rs754840412 SDE2 Synonymous SNV R203R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.085 227943 chr1 92709807 92709807 G A rs564970621 C1orf146 Nonsynonymous SNV C65Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 227944 chr8 73944279 73944279 C T rs1034294837 TERF1 Nonsynonymous SNV S297F 0 0.003 0 0 0 1 0 0 0 0 0 0 23 227945 chr1 94057859 94057859 C T rs768094406 BCAR3 Nonsynonymous SNV R59H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 227946 chr8 77690628 77690628 A G rs751293238 ZFHX4 Nonsynonymous SNV N1093S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.57 227947 chr14 105617016 105617016 G A rs374509372 JAG2 Synonymous SNV S471S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 227948 chr14 105642983 105642983 C T rs138979378 NUDT14 Nonsynonymous SNV G106S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 227949 chr14 105688184 105688184 G A BRF1 Synonymous SNV A134A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.15 227950 chr1 94884101 94884101 C G rs747232088 ABCD3 Nonsynonymous SNV L23V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.689 227951 chr9 139757833 139757833 C T EDF1 Synonymous SNV E66E 0.001 0 0 6 1 0 0.015 0 0 0 0 0 15.68 227952 chr8 100443797 100443797 A G rs758412930 VPS13B Nonsynonymous SNV M1039V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 227953 chr9 140706020 140706020 C T rs765865626 EHMT1 Synonymous SNV D933D 0.001 0 0.003 6 1 0 0.015 1 0 0 0 0 13.41 227954 chr14 21546379 21546379 C T rs765572415 ARHGEF40 Nonsynonymous SNV S693L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 227955 chr1 23191508 23191508 G A rs141626076 EPHB2 Nonsynonymous SNV R369Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 25.4 227956 chr3 56763596 56763596 G A rs138677398 ARHGEF3 Nonsynonymous SNV S434L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 227957 chr3 57135313 57135313 C T rs199540136 IL17RD Nonsynonymous SNV R353Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.3 227958 chr1 23417894 23417894 T C rs147463811 LUZP1 Nonsynonymous SNV Q954R 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 18.98 227959 chr20 19972927 19972927 G A rs754028614 RIN2 Synonymous SNV S728S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.26 227960 chr14 23846474 23846474 G A rs376601940 CMTM5 Nonsynonymous SNV R5Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 227961 chr1 236195888 236195888 G A rs758428860 NID1 Synonymous SNV P450P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.138 227962 chr14 24408954 24408954 A G rs1885811 DHRS4-AS1 0 0 0.014 0 0 0 0 4 0 0 2 0 0.498 227963 chr1 236738141 236738141 G C rs138699782 HEATR1 Synonymous SNV P1049P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.949 227964 chr14 34985706 34985706 G A rs76176562 EAPP Nonsynonymous SNV S223L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 227965 chr8 139890183 139890183 G C rs766709365 COL22A1 Nonsynonymous SNV D156E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.72 227966 chr8 142185477 142185477 C T rs146645728 DENND3 Synonymous SNV I818I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.31 227967 chr14 44974729 44974729 G C rs369651441 FSCB Nonsynonymous SNV P488A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 227968 chr14 50074638 50074638 T C rs771415885 LRR1 Nonsynonymous SNV I268T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 227969 chr10 24508671 24508671 A C KIAA1217 Nonsynonymous SNV I63L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 227970 chr14 50100405 50100405 C T rs200121200 DNAAF2 Nonsynonymous SNV G488E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 227971 chr20 3214768 3214768 T C rs190362136 SLC4A11 Nonsynonymous SNV M178V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 227972 chr20 32856921 32856921 G A ASIP Nonsynonymous SNV C116Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29 227973 chr20 33328244 33328244 C T rs200759781 NCOA6 Nonsynonymous SNV G1939D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 227974 chr14 53100263 53100263 A G rs746121239 GPR137C Nonsynonymous SNV I295V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 227975 chr20 3842126 3842126 C G rs45563035 MAVS Nonsynonymous SNV T6S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.6 227976 chr1 110280187 110280187 G A rs200802262 GSTM3 Synonymous SNV L157L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.51 227977 chr8 144998793 144998793 C T rs186670912 PLEC Synonymous SNV L1754L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign/Likely benign 8.751 227978 chr15 59064125 59064125 G A MINDY2 Synonymous SNV E177E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.64 227979 chr8 145640683 145640683 A G rs141199511 SLC39A4 Synonymous SNV L174L 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 0.145 227980 chr19 56717371 56717371 C T rs183089836 ZSCAN5C Nonsynonymous SNV A30V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 227981 chr15 66629354 66629354 A G rs201129710 TIPIN Nonsynonymous SNV F182S 0.001 0 0 5 1 0 0.013 0 0 0 0 0 7.648 227982 chr1 26511089 26511089 G A rs146265932 CNKSR1 Nonsynonymous SNV R381Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.4 227983 chr1 26671778 26671778 G - CRYBG2 F458Lfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 227984 chr20 56082828 56082828 C T rs1026548573 CTCFL Synonymous SNV S421S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.919 227985 chr9 8465663 8465663 T G rs561964160 PTPRD Nonsynonymous SNV I752L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 227986 chr20 57288497 57288497 G A rs752344898 NPEPL1 Synonymous SNV T341T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 227987 chr9 16552696 16552696 G A rs143821778 BNC2 Synonymous SNV V125V 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 12.69 227988 chr20 58494553 58494553 G A rs555024308 SYCP2 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.922 227989 chr15 74481536 74481536 A T STRA6 Nonsynonymous SNV L337Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 227990 chr1 29585279 29585279 T - PTPRU N156Kfs*21 0 0.003 0 0 0 1 0 0 0 0 0 0 227991 chr15 75651087 75651087 T C rs202052221 MAN2C1 Nonsynonymous SNV Y636C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 227992 chr14 92471564 92471564 A G rs201417947 TRIP11 Nonsynonymous SNV I918T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.964 227993 chr9 35706334 35706334 C T rs28664652 TLN1 Synonymous SNV P1740P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 13.63 227994 chr1 152326436 152326436 T A FLG2 Nonsynonymous SNV S1276C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 227995 chr1 152733472 152733472 C T rs141557248 KPRP Nonsynonymous SNV P470S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 227996 chr4 175899076 175899076 - GAGTCATCCTCAGTTGACGCCTTCCCAGAGTCAACCTCCTGTGACG ADAM29 Frameshift insertion P801Efs*74 0 0.003 0 0 0 1 0 0 0 0 0 0 227997 chr15 102192550 102192550 C A rs754468977 TM2D3 Synonymous SNV V5V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 227998 chr15 23890145 23890145 C A rs781054761 MAGEL2 Nonsynonymous SNV E915D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.682 227999 chr21 27347394 27347394 C G APP Nonsynonymous SNV V352L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 228000 chr1 156347160 156347160 G A rs200069134 RHBG Nonsynonymous SNV G86S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.5 228001 chr15 28263554 28263554 G A rs33929465 OCA2 Nonsynonymous SNV R266W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 18.24 228002 chr15 90784953 90784953 C G rs148271561 GDPGP1 Nonsynonymous SNV S271R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.003 228003 chr9 97718221 97718221 G T rs969813227 AOPEP Nonsynonymous SNV R500I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.24 228004 chr10 99211562 99211562 G T rs143990692 ZDHHC16 Nonsynonymous SNV V44F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.06 228005 chr15 40326538 40326538 T A rs770773012 EIF2AK4 Nonsynonymous SNV D1595E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.74 228006 chr15 40863867 40863867 G A rs556912818 RPUSD2 Nonsynonymous SNV R163H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 228007 chr15 41043719 41043719 C T rs7171451 RMDN3 Synonymous SNV P143P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.2 228008 chr15 41137177 41137177 C G rs12323939 SPINT1 Nonsynonymous SNV T142R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.31 228009 chr19 9213017 9213017 C A rs749404680 OR7G2 Nonsynonymous SNV L322F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.27 228010 chr15 42113922 42113922 G A rs141865866 MAPKBP1 Synonymous SNV P953P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 8.166 228011 chr15 42143533 42143533 T A rs1197665 SPTBN5 Nonsynonymous SNV N3564I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.06 228012 chr15 43018533 43018533 A C rs906185429 CDAN1 Nonsynonymous SNV L1060R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 228013 chr1 10523653 10523653 C T rs750823360 DFFA Nonsynonymous SNV D156N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 228014 chr9 116778978 116778978 C T ZNF618 Nonsynonymous SNV T221I 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 228015 chr9 116930796 116930796 C T rs781383926 COL27A1 Nonsynonymous SNV P321S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.716 228016 chr9 117099539 117099539 C T rs752928987 AKNA Stop gain W1253X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 228017 chr10 118719701 118719701 G A SHTN1 Synonymous SNV N11N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.15 228018 chr15 52186062 52186062 C G rs143809392 TMOD3 Nonsynonymous SNV P183A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 228019 chr15 54306580 54306580 A G rs771839902 UNC13C Nonsynonymous SNV K494E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 228020 chr21 46604922 46604922 G A rs201477864 ADARB1 Nonsynonymous SNV R494H 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.3 228021 chr21 46642103 46642103 C T rs371097171 ADARB1 Synonymous SNV L699L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 228022 chr1 11298552 11298552 T C rs138066958 MTOR Nonsynonymous SNV I637V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.053 228023 chr21 47539001 47539001 G A rs762490709 COL6A2 Nonsynonymous SNV G413R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.99 228024 chr1 79095537 79095537 T C rs776264141 IFI44L Synonymous SNV I220I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.94 228025 chr1 174976264 174976264 T C rs150909890 CACYBP Synonymous SNV N78N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.677 228026 chr1 115454144 115454144 A G SYCP1 Synonymous SNV T490T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 228027 chr1 175130120 175130120 A G rs954339947 KIAA0040 Synonymous SNV S10S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 228028 chr9 125923323 125923323 G A rs142444657 STRBP Nonsynonymous SNV P173L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 228029 chr9 126132549 126132549 C T rs34802652 CRB2 Nonsynonymous SNV P406L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.6 228030 chr9 127999251 127999251 C T rs777998455 HSPA5 Nonsynonymous SNV D529N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 228031 chr15 66257427 66257427 C T rs759126291 MEGF11 Nonsynonymous SNV G311S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 228032 chr9 129458637 129458637 C T rs750636039 LMX1B Synonymous SNV F376F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.62 228033 chr15 66850220 66850220 A T rs34672663 LCTL Synonymous SNV G81G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 1.83 228034 chr15 66995735 66995735 C T rs368960350 SMAD6 Nonsynonymous SNV P47S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.88 228035 chr4 74313220 74313220 G A rs147848862 AFP Synonymous SNV L295L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 2.434 228036 chr9 131020744 131020744 C T rs779736665 GOLGA2 Nonsynonymous SNV R721Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.463 228037 chr15 72455632 72455632 G A rs141361666 GRAMD2A Nonsynonymous SNV R311W 0 0 0.003 0 0 0 0 1 0 0 0 0 24 228038 chr15 77322864 77322864 T C rs771232034 PSTPIP1 Nonsynonymous SNV I195T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.424 228039 chr15 83357205 83357205 G A rs954026560 AP3B2 Nonsynonymous SNV R136W 0 0 0.003 0 0 0 0 1 0 0 0 0 0.362 228040 chr22 35478570 35478570 C G rs549935545 ISX Nonsynonymous SNV L97V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 228041 chr9 139752659 139752659 G A rs529080884 MAMDC4 Nonsynonymous SNV A869T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.353 228042 chr20 21492653 21492653 G A rs145819196 NKX2-2 Nonsynonymous SNV H244Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 25.4 228043 chr15 90137741 90137741 G A rs200319520 TICRR Nonsynonymous SNV R545H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 228044 chr11 1256549 1256549 A C rs140885000 MUC5B Nonsynonymous SNV N929T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 0.008 228045 chr9 140373538 140373538 G A rs769607734 PNPLA7 Synonymous SNV R886R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.944 228046 chr9 140414451 140414451 G A rs79362013 PNPLA7 Synonymous SNV A309A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.395 228047 chr9 140611263 140611263 A T rs144949902 EHMT1 Nonsynonymous SNV I60L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.56 228048 chr15 90931609 90931609 G C rs376149465 IQGAP1 Synonymous SNV V12V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.284 228049 chr1 157490296 157490296 C T rs1051334871 FCRL5 Nonsynonymous SNV A853T 0.003 0 0 0 4 0 0 0 0 0 0 0 2.406 228050 chr20 31023863 31023863 G A rs754054210 ASXL1 Synonymous SNV L1055L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.984 228051 chr1 160321978 160321978 G A NCSTN Nonsynonymous SNV M326I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 228052 chr1 16054610 16054610 C T rs150750784 PLEKHM2 Synonymous SNV H599H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.36 228053 chr1 160811597 160811597 T C rs145231927 CD244 Synonymous SNV A52A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.025 228054 chr17 80048811 80048811 C T rs202040392 FASN Nonsynonymous SNV E543K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.8 228055 chr5 134023925 134023925 C G SEC24A Nonsynonymous SNV I553M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 228056 chr16 129528 129528 G T rs139761076 MPG Synonymous SNV S43S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.105 228057 chr10 23728498 23728498 C A OTUD1 Nonsynonymous SNV P38T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 228058 chr16 83998718 83998718 G A rs111436159 OSGIN1 Synonymous SNV R180R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.328 228059 chr16 83998999 83998999 C A OSGIN1 Nonsynonymous SNV A274D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.118 228060 chr16 17232374 17232374 C T rs138560456 XYLT1 Synonymous SNV T534T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.36 228061 chr16 84035430 84035430 G A rs61745010 NECAB2 Synonymous SNV R329R 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 8.33 228062 chr16 84094320 84094320 C T rs763530636 MBTPS1 Nonsynonymous SNV G891R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.15 228063 chr22 50662847 50662847 G A rs774338870 TUBGCP6 Nonsynonymous SNV R690W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 228064 chr20 45239120 45239120 C T rs752990690 SLC13A3 Nonsynonymous SNV R169Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.235 228065 chr16 85689351 85689351 C T rs781355030 GSE1 Synonymous SNV L169L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.88 228066 chr16 22166965 22166965 C T rs187418728 VWA3A Synonymous SNV L1161L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.55 228067 chr1 179077415 179077415 G C rs28913890 ABL2 Nonsynonymous SNV P975R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 228068 chr2 111721220 111721220 G A rs139505303 ACOXL Nonsynonymous SNV R360Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.48 228069 chr16 8862067 8862067 C T ABAT Synonymous SNV D207D 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 12.69 228070 chr18 32409427 32409427 C T rs559493183 DTNA Synonymous SNV Y65Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.79 228071 chr18 32834305 32834305 T C rs149834015 ZNF397, ZSCAN30 Synonymous SNV Q11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.998 228072 chr16 2903942 2903942 C T rs142215382 PRSS22 Nonsynonymous SNV R214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 228073 chr2 113763653 113763653 G A rs202001688 IL36A Nonsynonymous SNV R38H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 228074 chr20 57429191 57429193 CCT - rs764891068 GNAS L231del 0 0.003 0 0 0 1 0 0 0 0 0 0 228075 chr10 50678671 50678671 T A ERCC6 Nonsynonymous SNV N1112I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.445 228076 chr16 3100073 3100073 C T rs762543693 MMP25 Nonsynonymous SNV A99V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 228077 chr10 61832483 61832483 C G rs202192255 ANK3 Nonsynonymous SNV R2719T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 228078 chr1 184787941 184787941 G A rs369137062 NIBAN1 Nonsynonymous SNV A335V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 228079 chr18 50866122 50866122 G T rs768507327 DCC Nonsynonymous SNV R735M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 228080 chr2 128610553 128610553 T C rs142734461 POLR2D Nonsynonymous SNV Y67C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 228081 chr17 10402399 10402399 T A rs748698824 MYH1 Synonymous SNV S1292S 0 0 0 3 0 0 0.008 0 0 0 0 0 10.95 228082 chr1 18809440 18809440 G A KLHDC7A Synonymous SNV Q655Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.533 228083 chr2 133887630 133887630 G A rs374217179 NCKAP5 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 228084 chr20 62191282 62191282 G A rs114090481 HELZ2 Synonymous SNV I2039I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 228085 chr2 136575048 136575048 C T rs145926114 LCT Nonsynonymous SNV A524T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 228086 chr2 136630358 136630358 G T rs139460893 MCM6 Nonsynonymous SNV R55S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.5 228087 chr2 143746420 143746420 G A rs376799457 KYNU Synonymous SNV S303S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.188 228088 chr10 75559047 75559047 C T rs373791095 ZSWIM8 Synonymous SNV P1483P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 228089 chr1 200974448 200974448 G A KIF21B Synonymous SNV T240T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.251 228090 chr16 50112668 50112668 A G rs779553766 HEATR3 Synonymous SNV L29L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.669 228091 chr10 75834597 75834597 A C rs745549651 VCL Nonsynonymous SNV E240A 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 228092 chr2 167266316 167266316 T A rs201499912 SCN7A Nonsynonymous SNV I1281F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.434 228093 chr16 58077186 58077186 T C rs201800162 MMP15 Nonsynonymous SNV L459P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 228094 chr10 92617213 92617213 T C HTR7 Synonymous SNV E72E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 228095 chr10 94389974 94389974 G A KIF11 Synonymous SNV Q449Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.919 228096 chr10 94822580 94822580 C G rs202086264 CYP26C1 Nonsynonymous SNV P178R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 228097 chr1 20474779 20474779 G A rs144660370 PLA2G2F Nonsynonymous SNV R131H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 228098 chr1 204926875 204926875 C T rs374961734 NFASC Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 228099 chr11 44626657 44626657 G A rs34170190 CD82 Synonymous SNV V62V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.69 228100 chr19 10476556 10476556 C T rs142642403 TYK2 Synonymous SNV P216P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.1 228101 chr16 74725174 74725174 C T rs144019045 MLKL 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 228102 chr10 100148157 100148157 T C rs140685973 PYROXD2 Synonymous SNV G467G 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 3.321 228103 chr16 75269107 75269107 C T rs376696491 BCAR1 Nonsynonymous SNV A354T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.436 228104 chr1 3391283 3391283 C T rs771979612 ARHGEF16 Synonymous SNV L439L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.943 228105 chr17 34340348 34340348 G A CCL23 Synonymous SNV I101I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.028 228106 chr17 36482499 36482499 A G rs765067426 GPR179 Nonsynonymous SNV L2318P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.539 228107 chr16 84224947 84224947 C G rs565246438 ADAD2 Synonymous SNV A37A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.752 228108 chr16 84492909 84492909 C T ATP2C2 Synonymous SNV S599S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 228109 chr19 14266309 14266309 C T ADGRL1 Synonymous SNV L1052L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 228110 chr16 863762 863762 G A PRR25 Synonymous SNV G370G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.878 228111 chr11 48388015 48388015 C T rs770663655 OR4C5 Star tloss M1? 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.084 228112 chr2 196688988 196688988 T C rs751580833 DNAH7 Synonymous SNV T3094T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 228113 chr17 38925270 38925270 C T rs149383385 KRT26 Nonsynonymous SNV G350R 0 0 0 2 0 0 0.005 0 0 0 0 0 18.48 228114 chr10 124036346 124036346 A G rs201541214 BTBD16 Nonsynonymous SNV N21S 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.1 228115 chr10 124608783 124608783 C T rs142923367 FAM24B Nonsynonymous SNV D89N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.56 228116 chr10 126686573 126686573 C T rs777985668 CTBP2 Synonymous SNV A243A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.47 228117 chr10 128150060 128150060 C A rs61746086 C10orf90 Synonymous SNV S543S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.6 228118 chr19 16918704 16918704 C T rs61735363 NWD1 Synonymous SNV P1142P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 228119 chr10 129207417 129207417 C T rs35539144 DOCK1 Synonymous SNV D1413D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 228120 chr19 17213218 17213218 G A rs376402468 MYO9B Nonsynonymous SNV V231M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 228121 chr10 129213442 129213442 T C rs35788582 DOCK1 Synonymous SNV Y1485Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.042 228122 chr10 129213451 129213451 A C rs34722874 DOCK1 Synonymous SNV A1488A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 228123 chr2 207175177 207175177 A G rs149538903 ZDBF2 Synonymous SNV L1975L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.165 228124 chr12 234929 234929 C T rs201602741 IQSEC3 Nonsynonymous SNV R252W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.2 228125 chr2 207631483 207631483 C A FASTKD2 Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 228126 chr22 24210819 24210819 C T rs147655616 SLC2A11 Nonsynonymous SNV T91M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 7.201 228127 chr2 210558808 210558808 C A MAP2 Nonsynonymous SNV S634R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 228128 chr17 11584201 11584201 G T rs192673174 DNAH9 Synonymous SNV P1246P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 228129 chr17 11607740 11607740 C T rs562664594 DNAH9 Nonsynonymous SNV A1791V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 228130 chr17 41341751 41341751 C T NBR1 Synonymous SNV N188N 0 0 0 2 0 0 0.005 0 0 0 0 0 10.72 228131 chr10 135186756 135186756 C A rs772023125 ECHS1 Nonsynonymous SNV A28S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 228132 chr2 217285189 217285189 G A rs370663120 SMARCAL1 Nonsynonymous SNV E344K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 228133 chr2 217526721 217526721 G A rs756176893 IGFBP2 Synonymous SNV Q271Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 228134 chr17 4448567 4448567 A C MYBBP1A Nonsynonymous SNV L716R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.682 228135 chr11 499944 499944 G A rs117254759 RNH1 Nonsynonymous SNV R110C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 228136 chr17 18907237 18907237 C A FAM83G Nonsynonymous SNV A40S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 228137 chr17 1939369 1939369 C T rs187856930 DPH1 Synonymous SNV Y133Y 0 0 0.007 0 0 0 0 2 0 0 1 0 9.195 228138 chr17 19645878 19645878 T G ALDH3A1 Nonsynonymous SNV I154L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.239 228139 chr11 621640 621640 G A rs61877859 CDHR5 Synonymous SNV V143V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.204 228140 chr11 1013992 1013992 C T rs148815783 MUC6 Nonsynonymous SNV S2350N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.76 228141 chr17 4722861 4722861 C T rs150535605 PLD2 Nonsynonymous SNV R816W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 228142 chr22 43447837 43447837 G A rs756215079 TTLL1 Synonymous SNV I316I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 228143 chr17 26961735 26961735 G A rs118181996 KIAA0100 Nonsynonymous SNV T814I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 228144 chr2 236403349 236403349 C T rs776177884 AGAP1 Synonymous SNV L7L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.42 228145 chr1 248224643 248224643 T C rs373221683 OR2L3 Synonymous SNV V220V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 228146 chr1 248224688 248224688 A G rs751729451 OR2L3 Synonymous SNV K235K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 228147 chr1 248224740 248224740 C A rs368310262 OR2L3 Nonsynonymous SNV P253T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.429 228148 chr17 35902503 35902503 T C rs139057703 SYNRG Nonsynonymous SNV I719V 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.001 228149 chr11 65733571 65733571 T C SART1 Nonsynonymous SNV V288A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 228150 chr11 1606280 1606280 C G rs139668171 KRTAP5-1 Nonsynonymous SNV G67A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 228151 chr11 66114864 66114864 C T B4GAT1 Synonymous SNV P51P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 228152 chr17 37933923 37933923 T C rs149002717 IKZF3 Synonymous SNV S22S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.506 228153 chr22 50926160 50926160 G A rs756320260 MIOX Nonsynonymous SNV V56I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 228154 chr1 26520316 26520316 G T rs185314400 CATSPER4 Synonymous SNV V132V 0.006 0.003 0.003 1 7 1 0.003 1 0 0 0 0 6.848 228155 chr11 67266089 67266089 C T rs781614059 PITPNM1 Nonsynonymous SNV A488T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 228156 chr11 3239215 3239215 G C rs1011062500 MRGPRG Nonsynonymous SNV L277V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 228157 chr19 39664433 39664433 G A rs912928720 PAK4 Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 228158 chr17 7106623 7106623 G A rs201944473 DLG4 Synonymous SNV G117G 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 14.31 228159 chr2 242812030 242812030 G A rs369440965 RTP5 Nonsynonymous SNV G41D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 228160 chr11 71725149 71725149 G C NUMA1 Nonsynonymous SNV Q1134E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.407 228161 chr17 72839204 72839204 G A rs561172508 GRIN2C Synonymous SNV P1024P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.01 228162 chr11 75280174 75280174 C T SERPINH1 Synonymous SNV I304I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.24 228163 chr2 27440833 27440833 C T rs766519749 CAD Synonymous SNV I57I 0.001 0 0 0 1 0 0 0 0 0 0 0 22 228164 chr17 40913148 40913148 C A rs569857021 RAMP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 228165 chr17 41123636 41123636 T A rs926496978 PTGES3L, PTGES3L-AARSD1 Nonsynonymous SNV E132D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.802 228166 chr1 39384719 39384719 C T rs760049850 RHBDL2 Nonsynonymous SNV E136K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 228167 chr1 39844882 39844882 G A rs750275025 MACF1 Synonymous SNV T2366T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 228168 chr12 76424712 76424712 C G rs778866940 PHLDA1 Nonsynonymous SNV Q270H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 228169 chr19 4446316 4446316 G A UBXN6 Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.576 228170 chr17 42266473 42266473 C T rs982154843 TMUB2 Nonsynonymous SNV A20V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 228171 chr1 40766969 40766969 G C rs919105938 COL9A2 Nonsynonymous SNV P652R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 228172 chr1 42619153 42619153 C T GUCA2B Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.066 228173 chr11 95712979 95712979 C T MAML2 Synonymous SNV G868G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 228174 chr17 76400143 76400143 C A rs758500915 PGS1 Synonymous SNV R459R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.83 228175 chr20 36979309 36979309 T A rs138570528 LBP Nonsynonymous SNV V112D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 228176 chr19 4511539 4511539 C T rs111868968 PLIN4 Synonymous SNV K811K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.303 228177 chr11 7064626 7064626 G - rs772006340 NLRP14 V457Sfs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 228178 chr19 45851418 45851418 G A rs527867937 KLC3 Nonsynonymous SNV R260Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 228179 chr17 4877700 4877700 G A rs774647893 CAMTA2 Nonsynonymous SNV P668S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.513 228180 chr1 54477880 54477880 G A rs771493383 LDLRAD1 Nonsynonymous SNV P39L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 228181 chr11 8940889 8940889 G C rs528909729 AKIP1 Nonsynonymous SNV E111D 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 20.1 228182 chr20 47628611 47628611 A G rs199964803 ARFGEF2 Nonsynonymous SNV E1303G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 228183 chr17 58422886 58422886 T C rs746813664 USP32 Nonsynonymous SNV I48V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 228184 chr20 50408820 50408820 G A rs202087308 SALL4 Nonsynonymous SNV R68W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.3 228185 chr19 48833559 48833559 C G rs887803710 EMP3 Nonsynonymous SNV S108R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 228186 chr11 17470143 17470143 A G rs67254669 ABCC8 Nonsynonymous SNV C418R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 228187 chr2 175346487 175346487 T C rs370610270 GPR155 Synonymous SNV T66T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.843 228188 chr20 6032842 6032842 G A LRRN4 Nonsynonymous SNV P202S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 228189 chr13 114795287 114795287 C T rs374146859 RASA3 Nonsynonymous SNV R118H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.1 228190 chr19 50099907 50099907 A T rs201499347 PRR12 Nonsynonymous SNV Q772L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 9.026 228191 chr17 6945445 6945445 G T rs762205310 SLC16A11 Nonsynonymous SNV S328R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.08 228192 chr17 7077587 7077587 G A rs139511614 ASGR1 Nonsynonymous SNV P116L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 228193 chr2 97506161 97506161 G A rs781137462 ANKRD23 Stop gain R173X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 228194 chr11 34912099 34912099 G A rs371620212 APIP Synonymous SNV G53G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 228195 chr1 85551595 85551595 G C rs201473686 WDR63 Nonsynonymous SNV D208H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 228196 chr1 85656261 85656263 TTC - rs749806221 SYDE2 K307del 0.001 0 0 0 1 0 0 0 0 0 0 0 228197 chr17 7359120 7359120 C G rs202144045 CHRNB1 Nonsynonymous SNV P409A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.05 228198 chr19 52568503 52568503 T C rs568439483 ZNF841 Nonsynonymous SNV K762E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 228199 chr17 74470468 74470468 C T rs763605935 RHBDF2 Nonsynonymous SNV R484Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.39 228200 chr18 33846722 33846722 C T MOCOS Nonsynonymous SNV P807L 0 0 0 2 0 0 0.005 0 0 0 0 0 27.5 228201 chr17 7479901 7479901 C T rs550885428 EIF4A1 Synonymous SNV I135I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 228202 chr17 7481018 7481018 C A rs780057605 EIF4A1 Synonymous SNV S300S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 228203 chr17 7534044 7534044 - T rs771082957 SHBG Frameshift insertion Y86Lfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 228204 chr2 202494084 202494084 C T rs199947989 TMEM237 Synonymous SNV V246V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.13 228205 chr2 202939804 202939804 C G rs769900669 KIAA2012 Nonsynonymous SNV P92R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 228206 chr17 7720921 7720921 G A rs137983416 DNAH2 Nonsynonymous SNV D3355N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 17.6 228207 chr2 21236341 21236341 C G APOB Nonsynonymous SNV G1303R 0 0.003 0 0 0 1 0 0 0 0 0 0 29 228208 chr17 79663439 79663439 G A rs377520640 HGS Synonymous SNV G482G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.268 228209 chr20 16352344 16352344 C T rs75989969 KIF16B Nonsynonymous SNV S1087N 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 0.03 228210 chr2 214215338 214215338 C T rs528853880 SPAG16 Nonsynonymous SNV T244I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.66 228211 chr17 79899377 79899377 G A rs566307177 MYADML2 Nonsynonymous SNV R81W 0 0 0.007 0 0 0 0 2 0 0 0 0 29.1 228212 chr2 217340102 217340102 C T rs560510661 SMARCAL1 Synonymous SNV T785T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.64 228213 chr17 80422248 80422248 G A rs889062434 NARF Nonsynonymous SNV G6E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.58 228214 chr19 55708532 55708532 T G rs536366807 PTPRH Nonsynonymous SNV E470A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 228215 chr21 45649954 45649954 G A rs186459476 ICOSLG, LOC102723996 Nonsynonymous SNV P177L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.89 228216 chr17 80617489 80617489 G A rs561361288 RAB40B Synonymous SNV D103D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.085 228217 chr11 55563737 55563737 C T rs145440752 OR5D14 Nonsynonymous SNV R236C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.1 228218 chr18 10784822 10784822 G A rs927599746 PIEZO2 Nonsynonymous SNV L818F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 228219 chr12 12318144 12318144 T C rs781332733 LRP6 Nonsynonymous SNV Y544C 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.6 228220 chr2 220417319 220417320 CC - rs771851567 OBSL1 G1749Afs*29 0 0.003 0.003 0 0 1 0 1 0 0 0 0 228221 chr21 47966860 47966860 C T rs368275560 DIP2A Synonymous SNV D766D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.46 228222 chr19 57325545 57325545 G C rs56237501 PEG3 Nonsynonymous SNV A1267G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.4 228223 chr18 29848391 29848391 C T rs185952633 GAREM1 Nonsynonymous SNV V692I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.088 228224 chr3 138664494 138664494 A G rs146709691 FOXL2 Synonymous SNV H357H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 1.909 228225 chr3 139297833 139297833 G A rs61733265 NMNAT3 Synonymous SNV L58L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 228226 chr3 141272711 141272711 C T rs148503095 RASA2 Synonymous SNV C180C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.25 228227 chr3 141272778 141272778 T G rs541055479 RASA2 Nonsynonymous SNV S203A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.58 228228 chr20 33330533 33330533 G A NCOA6 Nonsynonymous SNV T1176I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 228229 chr18 43252904 43252904 G A rs142459777 SLC14A2 Nonsynonymous SNV G757S 0.002 0 0.02 0 2 0 0 6 0 0 1 0 26.5 228230 chr19 58453887 58453887 G A ZNF256 Nonsynonymous SNV P97S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 228231 chr14 23395919 23395919 C T rs759956527 PRMT5 Synonymous SNV T124T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 228232 chr19 59074652 59074652 A T rs374145510 MZF1 Nonsynonymous SNV I331N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 228233 chr14 23944783 23944783 G A rs148302816 NGDN Nonsynonymous SNV R100H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 228234 chr19 6442082 6442082 C G rs145831204 SLC25A23 Synonymous SNV G437G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.4 228235 chr3 159604046 159604046 G A IQCJ-SCHIP1, SCHIP1 Nonsynonymous SNV S78N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 228236 chr3 167402116 167402116 T A PDCD10 Nonsynonymous SNV T207S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 228237 chr2 23865578 23865578 G A rs563727400 KLHL29 Synonymous SNV P266P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.83 228238 chr11 57088178 57088178 G A rs138554689 TNKS1BP1 Nonsynonymous SNV R35W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 228239 chr19 7626401 7626401 C T rs370033046 PNPLA6 Stop gain R1351X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 228240 chr14 37283181 37283181 C T rs118130312 SLC25A21 Nonsynonymous SNV D49N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25 228241 chr3 179460080 179460080 G A rs35132005 USP13 Synonymous SNV T492T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.3 228242 chr18 64172442 64172442 A G CDH19 Synonymous SNV D642D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.443 228243 chr2 240033391 240033391 C T rs148813865 HDAC4 Synonymous SNV E598E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.53 228244 chr11 58346907 58346907 G A rs928368230 ZFP91 Synonymous SNV R51R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.241 228245 chr20 50048887 50048887 G A rs368015813 NFATC2 Synonymous SNV Y793Y 0.003 0 0 0 4 0 0 0 0 0 0 0 0.024 228246 chr20 50408611 50408611 G C rs201560082 SALL4 Synonymous SNV G137G 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 3.274 228247 chr20 52192844 52192844 G A rs145426629 ZNF217 Nonsynonymous SNV S820F 0.004 0 0 0 5 0 0 0 0 0 0 0 18.69 228248 chr19 885997 885997 T C rs768176167 MED16 Nonsynonymous SNV I218V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.57 228249 chr18 70532471 70532471 C T rs146855996 NETO1 Nonsynonymous SNV A12T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.09 228250 chr11 59426364 59426364 C T PATL1 Nonsynonymous SNV R134Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 228251 chr18 72185872 72185872 A G rs147167524 CNDP2 Nonsynonymous SNV T319A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.407 228252 chr12 53447242 53447242 G A rs199865868 LOC283335 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.796 228253 chr18 8813046 8813046 A C rs11874468 MTCL1 Nonsynonymous SNV K892Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 228254 chr18 908295 908295 C T rs146950918 ADCYAP1 Nonsynonymous SNV A91V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 228255 chr12 55846605 55846605 T C OR6C2 Nonsynonymous SNV F203S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 228256 chr19 10205607 10205607 G A rs145558307 ANGPTL6 Nonsynonymous SNV P197L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 228257 chr20 60886347 60886347 C T rs764879372 LAMA5 Nonsynonymous SNV R3320H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.5 228258 chr11 62434029 62434029 C G CSKMT Nonsynonymous SNV L77V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.449 228259 chr19 10265372 10265372 C T rs140376680 DNMT1 Synonymous SNV V558V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.48 228260 chr19 9066991 9066991 T C MUC16 Nonsynonymous SNV T6819A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 228261 chr11 64453181 64453181 G A rs145225716 NRXN2 Synonymous SNV P339P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.19 228262 chr11 64506922 64506922 G A RASGRP2 Synonymous SNV N241N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 228263 chr19 1270084 1270086 CTC - rs557394984 CIRBP-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 228264 chr3 38050025 38050025 C T rs146357368 PLCD1 Nonsynonymous SNV R630Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 228265 chr2 48808755 48808755 G A STON1, STON1-GTF2A1L Nonsynonymous SNV C328Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23 228266 chr22 50547183 50547183 G A rs200767181 MOV10L1 Nonsynonymous SNV R218Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 228267 chr2 55080845 55080845 A G rs199689214 EML6 Nonsynonymous SNV K504E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.5 228268 chr11 67190854 67190854 C T rs770711185 CARNS1 Synonymous SNV L422L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 228269 chr3 39229357 39229357 C T rs143212757 XIRP1 Nonsynonymous SNV S527N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.307 228270 chr19 33696202 33696202 G A rs768884022 LRP3 Nonsynonymous SNV G176S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 228271 chr19 17040046 17040046 T G rs755022510 CPAMD8 Nonsynonymous SNV R950S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 228272 chr1 112033316 112033316 A G rs746300533 TMIGD3 Nonsynonymous SNV M59T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 228273 chr2 71175460 71175460 C T rs189140041 ATP6V1B1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 8.584 228274 chr12 108169245 108169245 C A rs759360120 ASCL4 Synonymous SNV R85R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 228275 chr2 74699704 74699704 T C rs150483763 MRPL53 Synonymous SNV E28E 0 0.008 0 0 0 3 0 0 0 0 0 0 7.043 228276 chr19 2115383 2115383 C T rs2240654 AP3D1 Synonymous SNV E728E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 14.1 228277 chr12 120653026 120653026 C T rs778906052 PXN Synonymous SNV P342P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.13 228278 chr19 24309495 24309495 T G rs144936863 ZNF254 Nonsynonymous SNV I146M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 228279 chr2 98475853 98475853 G T rs202224948 TMEM131 Nonsynonymous SNV H133N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.4 228280 chr11 100844017 100844017 T C rs201630857 ARHGAP42 Synonymous SNV I554I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 228281 chr1 150939240 150939240 C G CERS2 Synonymous SNV L280L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 228282 chr3 52556865 52556865 G A rs146384846 STAB1 Synonymous SNV A2273A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.136 228283 chr19 35250553 35250553 G C rs138633003 ZNF599 Nonsynonymous SNV H385D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 228284 chr3 56807782 56807782 C T rs116241564 ARHGEF3 Synonymous SNV P59P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.73 228285 chr12 124359816 124359816 G A DNAH10 Synonymous SNV L2541L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.313 228286 chr3 57301800 57301800 A T APPL1 Nonsynonymous SNV I625L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 228287 chr3 63981655 63981655 C T rs377376951 ATXN7 Synonymous SNV S574S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.839 228288 chr1 154474125 154474125 C T SHE Synonymous SNV T126T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.803 228289 chr11 111179083 111179083 G A COLCA2 Nonsynonymous SNV C129Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 228290 chr3 65342451 65342451 G A rs759490528 MAGI1 Nonsynonymous SNV R1331C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 228291 chr3 112198496 112198496 G A BTLA Nonsynonymous SNV T70I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 228292 chr1 155178730 155178730 G A MTX1 Synonymous SNV E45E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.065 228293 chr3 73618353 73618353 C T LOC101927296 0.001 0 0 0 1 0 0 0 0 0 0 0 4.672 228294 chr1 155735951 155735951 G A rs760003004 GON4L Nonsynonymous SNV L1105F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 228295 chr3 8579013 8579013 C T rs534848078 LMCD1 Nonsynonymous SNV R19W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 228296 chr12 133381547 133381547 G A rs201755855 GOLGA3 Nonsynonymous SNV A451V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.86 228297 chr13 19751134 19751134 G A rs113780307 TUBA3C Nonsynonymous SNV A330V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.2 228298 chr3 9807494 9807494 G A CAMK1, OGG1 Nonsynonymous SNV A55V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 228299 chr22 30415666 30415666 C T rs143645340 MTMR3 Nonsynonymous SNV P673L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.548 228300 chr19 38877628 38877628 C T rs909672285 GGN Nonsynonymous SNV A92T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 228301 chr11 121039401 121039401 A G rs149602974 TECTA Synonymous SNV T1922T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.063 228302 chr19 39876915 39876915 C T rs776690401 PAF1 Nonsynonymous SNV E438K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 228303 chr4 104066348 104066348 G A rs17033437 CENPE Synonymous SNV L1547L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.305 228304 chr22 32111827 32111827 C T rs201323737 PRR14L Synonymous SNV L666L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.961 228305 chr19 40420002 40420002 C T rs375027924 FCGBP Nonsynonymous SNV A998T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 228306 chr11 123886364 123886364 T A OR10G4 Nonsynonymous SNV I28N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 228307 chr19 41009810 41009810 C T rs750512662 SPTBN4 Nonsynonymous SNV A479V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 228308 chr1 160302299 160302299 G A rs906358012 COPA Synonymous SNV P145P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.263 228309 chr19 46973525 46973525 G A rs116692630 PNMA8A Synonymous SNV P256P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.431 228310 chr19 47858540 47858540 C T rs146283382 DHX34 Nonsynonymous SNV S317L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 228311 chr3 128969537 128969537 A G rs773136279 COPG1 Nonsynonymous SNV N17S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 228312 chr19 4359219 4359219 G A rs778105582 MPND Stop gain W412X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 228313 chr22 39714491 39714491 G A rs147933419 RPL3 Nonsynonymous SNV P37L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 228314 chr22 40367043 40367043 G A rs141239398 GRAP2 Synonymous SNV K203K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 228315 chr19 44352663 44352664 CT - rs758959264 ZNF283 T498Mfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 228316 chr11 134115400 134115400 C T rs757619929 VPS26B Synonymous SNV I309I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.72 228317 chr11 134121027 134121027 C T rs752280501 THYN1 Synonymous SNV V73V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.09 228318 chr11 134126505 134126505 G A rs749474432 ACAD8 Nonsynonymous SNV R58Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.78 228319 chr11 134131676 134131676 C T rs766640729 ACAD8 Synonymous SNV A328A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.23 228320 chr22 44333033 44333033 C T rs753306590 PNPLA3 Nonsynonymous SNV P287L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.201 228321 chr13 77900815 77900815 C A rs754294977 MYCBP2 Synonymous SNV P32P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.7 228322 chr12 1042191 1042191 G A rs766945254 RAD52 Nonsynonymous SNV R12C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.33 228323 chr4 141317067 141317067 C G CLGN Nonsynonymous SNV R352P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 228324 chr4 149357910 149357910 C G rs141860706 NR3C2 Nonsynonymous SNV E35Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 22.8 228325 chr1 17322969 17322969 G T rs796629683 ATP13A2 Synonymous SNV G401G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.479 228326 chr19 45165036 45165036 G A rs201504280 PVR Synonymous SNV E351E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.221 228327 chr19 45368910 45368910 A G rs34777587 NECTIN2 Synonymous SNV R157R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.472 228328 chr19 50117816 50117816 C A PRR12 Synonymous SNV P1600P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.59 228329 chr12 6484669 6484669 A G rs772498945 SCNN1A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.63 228330 chr19 45923617 45923617 A G rs56148539 ERCC1 Synonymous SNV Y130Y 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 0.157 228331 chr19 4682984 4682984 A G rs569066359 DPP9-AS1 Synonymous SNV Q38Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.094 228332 chr12 6804790 6804790 T C rs762552814 PIANP Synonymous SNV R211R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.072 228333 chr2 206580923 206580923 C T rs367901430 NRP2 Synonymous SNV D86D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 228334 chr22 50885799 50885799 C T rs372974901 SBF1 Synonymous SNV T1820T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.6 228335 chr4 169189073 169189073 C T rs111248534 DDX60 Nonsynonymous SNV A950T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.62 228336 chr13 114504660 114504660 G A rs149213526 TMEM255B Nonsynonymous SNV G182S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 228337 chr2 21230599 21230599 C T rs773353449 APOB Synonymous SNV T3047T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.596 228338 chr4 184182244 184182244 C T rs73872306 WWC2 Synonymous SNV L490L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.12 228339 chr2 111551688 111551688 - A rs755405366 ACOXL Frameshift insertion R95Kfs*17 0.004 0.005 0 0 5 2 0 0 0 0 0 0 228340 chr1 197160903 197160903 T C rs375517703 ZBTB41 Nonsynonymous SNV E416G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 228341 chr19 51052082 51052082 C T rs200927578 LRRC4B Nonsynonymous SNV R5H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 228342 chr1 197889108 197889108 C T rs752652822 LHX9 Nonsynonymous SNV P61S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 228343 chr1 20005512 20005512 G A rs779462275 HTR6 Nonsynonymous SNV R325Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 228344 chr14 23853716 23853716 G A rs137923514 MYH6 Nonsynonymous SNV R1834C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 33 228345 chr3 186503713 186503713 C T EIF4A2 Synonymous SNV A130A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.2 228346 chr1 202287399 202287399 G A rs138433750 LGR6 Synonymous SNV S517S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.169 228347 chr3 189838301 189838301 G A P3H2 Nonsynonymous SNV H74Y 0 0.003 0 0 0 1 0 0 0 0 0 0 16.67 228348 chr14 24878024 24878024 G A NYNRIN Nonsynonymous SNV G342S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.958 228349 chr4 36345325 36345325 G A DTHD1 Nonsynonymous SNV R577H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 228350 chr2 141135830 141135830 A G rs764874597 LRP1B Synonymous SNV D3519D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.059 228351 chr2 1499871 1499871 T C rs550778466 TPO Nonsynonymous SNV M533T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 228352 chr4 41648150 41648150 G A rs542134097 LIMCH1 Nonsynonymous SNV R204H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 228353 chr3 20027025 20027025 A G PP2D1 Synonymous SNV N580N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.088 228354 chr19 53856365 53856365 C T rs185841540 ZNF845 Nonsynonymous SNV R813C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 228355 chr12 49227146 49227146 T C DDX23 Nonsynonymous SNV S573G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 228356 chr14 55169117 55169117 C T SAMD4A Synonymous SNV H178H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.782 228357 chr19 55445904 55445904 C A NLRP7 Nonsynonymous SNV L808F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 228358 chr4 5810018 5810018 G T EVC Nonsynonymous SNV M884I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.82 228359 chr3 38592526 38592526 C T rs41311121 SCN5A Synonymous SNV T1761T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.772 228360 chr3 39179162 39179162 C T rs373405962 TTC21A Synonymous SNV L1171L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.451 228361 chr3 39225835 39225835 A G rs144145444 XIRP1 Nonsynonymous SNV L384P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.33 228362 chr4 70592915 70592915 G A rs11569729 SULT1B1 Nonsynonymous SNV T261M 0.002 0 0 0 2 0 0 0 0 0 0 0 3.35 228363 chr12 53451835 53451835 G A rs940442796 TNS2 Synonymous SNV Q358Q 0 0.005 0 0 0 2 0 0 0 1 0 0 8.793 228364 chr19 56720052 56720052 C T rs144342026 ZSCAN5C Nonsynonymous SNV P325L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.944 228365 chr19 5696152 5696152 C T rs367852351 LONP1 Synonymous SNV T446T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 228366 chr19 56972068 56972068 C A rs59536407 ZNF667 Synonymous SNV L50L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 228367 chr19 57089835 57089835 A G rs34863160 ZNF470 Nonsynonymous SNV K680E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 228368 chr16 23494276 23494276 G A rs144247430 GGA2 Nonsynonymous SNV A283V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 228369 chr14 86088177 86088177 C A rs117507441 FLRT2 Nonsynonymous SNV L107I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.5 228370 chr19 603785 603785 G A HCN2 Nonsynonymous SNV V292M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 228371 chr3 48602864 48602864 C T COL7A1 Nonsynonymous SNV V2836I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 228372 chr19 6458261 6458261 C T rs1015441111 SLC25A23 Synonymous SNV E77E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 228373 chr12 85450685 85450685 A T rs141045877 LRRIQ1 Nonsynonymous SNV K705I 0 0.005 0 0 0 2 0 0 0 1 0 0 8.371 228374 chr12 92387187 92387187 G A LINC01619 0 0.005 0 0 0 2 0 0 0 1 0 0 3.986 228375 chr3 49831132 49831132 A G rs751528055 CDHR4 Synonymous SNV L503L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.086 228376 chr19 8121307 8121307 G A rs181196755 CCL25 Synonymous SNV V83V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.906 228377 chr4 983178 983178 C A rs187110381 SLC26A1 Nonsynonymous SNV G517W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 228378 chr3 51749585 51749585 A G GRM2 Nonsynonymous SNV K221R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 228379 chr19 8555078 8555078 G A rs181508170 PRAM1 Nonsynonymous SNV R670W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.3 228380 chr14 99924684 99924684 T C rs200956499 SETD3 Nonsynonymous SNV I203V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.931 228381 chr12 110032889 110032889 T A rs201216490 MVK Synonymous SNV S262S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.008 228382 chr12 111886074 111886074 C T rs72650662 SH2B3 Nonsynonymous SNV R364W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 228383 chr1 100133217 100133217 A C rs143698526 PALMD Nonsynonymous SNV K49T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.4 228384 chr3 58067436 58067436 C T rs111433950 FLNB Synonymous SNV A240A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.87 228385 chr15 31776718 31776718 G A OTUD7A Synonymous SNV F520F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.614 228386 chr1 10687385 10687385 C T rs751362894 PEX14 Synonymous SNV S214S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 228387 chr5 137903348 137903348 G A rs199715716 HSPA9 Nonsynonymous SNV S200L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 228388 chr4 10089957 10089957 G A rs781406373 WDR1 Nonsynonymous SNV A86V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.44 228389 chr15 41991134 41991134 A G rs201748568 MGA Nonsynonymous SNV D696G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.9 228390 chr4 114280052 114280052 A G rs1003497414 ANK2 Synonymous SNV L3426L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 2.068 228391 chr1 32950786 32950786 G A rs543001566 ZBTB8B Nonsynonymous SNV G419R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 228392 chr1 145698967 145698967 A G CD160 Nonsynonymous SNV L175P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 228393 chr1 150445514 150445514 C T rs190593461 RPRD2 Nonsynonymous SNV R1338C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 228394 chr5 149429925 149429925 G A rs372272843 HMGXB3 Synonymous SNV T938T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.9 228395 chr1 150530009 150530009 C T rs115937511 ADAMTSL4 Nonsynonymous SNV S696L 0.003 0 0 1 3 0 0.003 0 1 0 0 0 Benign 34 228396 chr13 30097576 30097576 C T rs34941634 SLC7A1 Synonymous SNV A292A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.71 228397 chr1 151015609 151015609 A T rs752461407 BNIPL Nonsynonymous SNV H122L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 228398 chr16 85105419 85105419 G A rs761653280 KIAA0513 Synonymous SNV K120K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 228399 chr13 33591262 33591262 C A rs151050969 KL Synonymous SNV G228G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 228400 chr1 40544268 40544268 G A PPT1 Synonymous SNV F127F 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.754 228401 chr1 40758172 40758172 C G rs200751802 ZMPSTE24 Nonsynonymous SNV A420G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.8 228402 chr5 150923775 150923775 G A rs200330283 FAT2 Nonsynonymous SNV R2305C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 228403 chr16 88498473 88498473 G A rs911235059 ZNF469 Nonsynonymous SNV R1532Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.065 228404 chr16 88499349 88499349 G A ZNF469 Nonsynonymous SNV G1824D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.245 228405 chr3 130103779 130103779 A G rs906509187 COL6A5 Nonsynonymous SNV K478R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.28 228406 chr4 15565077 15565077 T C rs781371086 CC2D2A Synonymous SNV D1038D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.292 228407 chr3 133099761 133099761 G A rs755518271 TMEM108 Synonymous SNV E402E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.993 228408 chr5 157170774 157170774 C T rs566098761 LSM11 Nonsynonymous SNV R6W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 228409 chr1 155152130 155152130 C T TRIM46 Synonymous SNV D310D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 228410 chr1 155239292 155239292 C T CLK2 Nonsynonymous SNV S129N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 228411 chr15 66274657 66274657 C T rs994734148 MEGF11 Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 228412 chr1 156046453 156046453 T G MEX3A Nonsynonymous SNV E492A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 228413 chr1 156146703 156146703 A G SEMA4A Nonsynonymous SNV Q602R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.148 228414 chr1 156100408 156100408 C T rs41313880 LMNA Synonymous SNV C7C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.29 228415 chr13 60384960 60384960 C T rs200189161 DIAPH3 Nonsynonymous SNV R779H 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 35 228416 chr1 156256257 156256257 G A rs139893518 TMEM79 Nonsynonymous SNV V322I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.262 228417 chr13 77626026 77626026 C T rs758088962 MYCBP2 Nonsynonymous SNV D4559N 0 0.003 0 0 0 1 0 0 0 0 0 0 35 228418 chr15 70957106 70957106 A G rs78551559 UACA Synonymous SNV N1323N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.65 228419 chr15 70959576 70959576 C T rs61746327 UACA Synonymous SNV V1136V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.999 228420 chr15 70959803 70959803 C A rs61729919 UACA Nonsynonymous SNV D1061Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 228421 chr15 70960422 70960422 C T rs61742861 UACA Synonymous SNV E854E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.382 228422 chr15 70968850 70968850 A G rs61741196 UACA Synonymous SNV N358N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.488 228423 chr15 71128691 71128691 G A rs78188777 LARP6 Synonymous SNV H118H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 11.71 228424 chr15 74239477 74239477 C T rs763234312 LOXL1 Synonymous SNV A473A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 228425 chr3 151129194 151129194 C A rs778921097 MED12L Nonsynonymous SNV N1978K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 228426 chr3 151156129 151156129 A G IGSF10 Synonymous SNV L101L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 228427 chr3 160818940 160818940 G A rs558556676 B3GALNT1 Nonsynonymous SNV T65I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.231 228428 chr1 159898158 159898158 C T rs201522235 IGSF9 Nonsynonymous SNV R1007Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 228429 chr5 32098661 32098661 C T rs201822397 PDZD2 Synonymous SNV P2713P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.58 228430 chr1 167973207 167973207 G A rs370291307 DCAF6 Nonsynonymous SNV R335Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.4 228431 chr5 39390630 39390630 A G rs372578582 DAB2 Synonymous SNV R126R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.353 228432 chr1 173155961 173155961 C T rs139594528 TNFSF4 Synonymous SNV E32E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 228433 chr3 184922528 184922528 G A rs202051821 EHHADH Nonsynonymous SNV R100C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 228434 chr14 20925517 20925517 T C rs1065749 APEX1 Synonymous SNV Y269Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.002 228435 chr1 175365686 175365686 C T TNR Nonsynonymous SNV A79T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 228436 chr4 41983864 41983864 G A rs140204766 DCAF4L1 Nonsynonymous SNV A19T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.46 228437 chr15 91827262 91827262 C T rs908557347 SV2B Nonsynonymous SNV H396Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.22 228438 chr4 514984 514984 G A rs139518242 PIGG Synonymous SNV T285T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 6.945 228439 chr14 24529960 24529960 C T rs754544491 CARMIL3 Nonsynonymous SNV R729W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 228440 chr1 90399692 90399692 C A rs961316298 LRRC8D Synonymous SNV T355T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 228441 chr14 24724259 24724259 G A rs781709502 TGM1 Nonsynonymous SNV L616F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 228442 chr1 19564513 19564513 G A rs144713581 EMC1 Nonsynonymous SNV R382W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 228443 chr2 97035209 97035209 G A rs201695911 NCAPH Nonsynonymous SNV A577T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 228444 chr1 19566473 19566473 C G EMC1 Nonsynonymous SNV D243H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 228445 chr14 38194110 38194110 C T TTC6 Nonsynonymous SNV A590V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 228446 chr1 200555289 200555289 T C rs200285592 KIF14 Nonsynonymous SNV I570V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 228447 chr4 70823081 70823081 G A rs115451626 CSN2 Nonsynonymous SNV L195F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 228448 chr16 1259312 1259312 G A rs370838298 CACNA1H Nonsynonymous SNV R1215H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.338 228449 chr4 70823090 70823090 C T rs116775276 CSN2 Nonsynonymous SNV V192I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 228450 chr4 70865507 70865507 G A rs181619166 STATH Nonsynonymous SNV R28H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.59 228451 chr20 13763568 13763568 G T rs748310039 ESF1 Nonsynonymous SNV D73E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 228452 chr3 10312646 10312646 A G TATDN2 Nonsynonymous SNV M594V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 228453 chr4 72397884 72397884 G C rs140846842 SLC4A4 Nonsynonymous SNV E714Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.7 228454 chr16 1537699 1537699 C T PTX4 Synonymous SNV R133R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.208 228455 chr14 51489624 51489624 T C TRIM9 Nonsynonymous SNV I324V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.09 228456 chr1 201752885 201752885 C T rs117467804 NAV1 Synonymous SNV P512P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 228457 chr20 17208117 17208117 G A rs746184772 PCSK2 Nonsynonymous SNV G56E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.23 228458 chr1 202795262 202795262 G A rs41270973 MGAT4EP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.707 228459 chr20 17928145 17928145 C T rs139196479 SNX5 Nonsynonymous SNV E250K 0.003 0 0 0 3 0 0 0 0 0 0 0 25 228460 chr1 203317150 203317150 T C rs143745268 FMOD Synonymous SNV P83P 0 0 0.01 0 0 0 0 3 0 0 0 0 1.174 228461 chr16 2764218 2764218 G A rs372721406 PRSS27 Nonsynonymous SNV T17M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 228462 chr1 198723439 198723439 A C rs762923302 PTPRC Nonsynonymous SNV N1023T 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Uncertain significance 23.8 228463 chr1 198725169 198725169 T C rs1058191 PTPRC Synonymous SNV N1099N 0.004 0 0 4 5 0 0.01 0 0 0 0 0 Benign 0.069 228464 chr1 206653866 206653866 G A rs782741977 IKBKE Nonsynonymous SNV G388R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 228465 chr14 61788973 61788973 G A rs148375974 PRKCH Nonsynonymous SNV V52M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 228466 chr14 64453273 64453273 G T rs773172045 SYNE2 Nonsynonymous SNV A751S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.59 228467 chr6 109471440 109471440 C T rs150095944 CEP57L1 Stop gain Q16X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 228468 chr6 110714254 110714254 A G DDO Synonymous SNV N137N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.642 228469 chr4 85634326 85634326 C T rs150169644 WDFY3 Synonymous SNV T2676T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.43 228470 chr6 111896863 111896863 T C rs139767840 TRAF3IP2 Nonsynonymous SNV N395S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 21.5 228471 chr20 3128854 3128854 A G rs2422857 FASTKD5 Nonsynonymous SNV I288T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 228472 chr4 87643478 87643478 G C rs61757789 PTPN13 Nonsynonymous SNV R500P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 26.5 228473 chr6 116381177 116381177 T C rs34704018 FRK Nonsynonymous SNV I100V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.65 228474 chr6 117824974 117824974 A G DCBLD1 Nonsynonymous SNV M53V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 228475 chr1 221057651 221057651 G C HLX Nonsynonymous SNV A358P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.253 228476 chr1 22186165 22186165 G A rs777294243 HSPG2 Synonymous SNV S1730S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 228477 chr6 129621928 129621928 C T rs145420388 LAMA2 Stop gain R1029X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 40 228478 chr14 78709961 78709961 A G rs770253903 NRXN3 Synonymous SNV L175L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.463 228479 chr14 79432622 79432622 C T rs142477942 NRXN3 Nonsynonymous SNV L511F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 228480 chr20 3784111 3784111 G A rs760051246 CDC25B Nonsynonymous SNV A281T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.201 228481 chr6 132643925 132643925 G A rs752440623 MOXD1 Nonsynonymous SNV R400C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 228482 chr1 227920222 227920222 G A JMJD4 Synonymous SNV I405I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.613 228483 chr3 12977414 12977414 T C IQSEC1 Nonsynonymous SNV I368V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 228484 chr6 139048627 139048627 G C rs760027999 GVQW2 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 228485 chr14 92088086 92088086 C T rs140842196 CATSPERB Nonsynonymous SNV R709Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.09 228486 chr14 93125680 93125680 C T rs763204263 RIN3 Nonsynonymous SNV P659L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 228487 chr6 144508380 144508380 G A rs145347140 STX11 Nonsynonymous SNV E206K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 228488 chr16 29802129 29802140 GCTTCAGCGGCG - rs762787353 KIF22 S18_A21del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 228489 chr6 148711344 148711344 G A rs369830961 SASH1 Synonymous SNV V32V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.51 228490 chr5 123983773 123983773 C A rs748882975 ZNF608 Synonymous SNV L768L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.12 228491 chr3 135745856 135745856 A G rs149963125 PPP2R3A Synonymous SNV E105E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 7.089 228492 chr1 233122081 233122081 C T rs200739197 PCNX2 Synonymous SNV P1999P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 228493 chr16 31196415 31196423 GGCGGCGGT - rs767564995 FUS G228_G230del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 228494 chr1 235860437 235860437 T C LYST Nonsynonymous SNV I3504V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.25 228495 chr6 154735456 154735456 C A rs143936148 CNKSR3 Synonymous SNV P174P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.08 228496 chr16 50187683 50187683 A G rs934424686 TENT4B Nonsynonymous SNV S51G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.597 228497 chr6 155126533 155126533 C A rs755596424 SCAF8 Synonymous SNV S298S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.17 228498 chr3 142103483 142103483 A G XRN1 Nonsynonymous SNV V795A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 228499 chr14 101349785 101349785 G A RTL1 Synonymous SNV Y447Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.056 228500 chr6 157963705 157963705 A G ZDHHC14 Nonsynonymous SNV T112A 0.003 0 0 0 4 0 0 0 0 0 0 0 23.5 228501 chr6 158484870 158484870 G A rs138792733 SYNJ2 Nonsynonymous SNV R155Q 0.003 0 0.007 0 4 0 0 2 0 0 0 0 34 228502 chr3 9991657 9991657 T C PRRT3 Nonsynonymous SNV K48R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.068 228503 chr6 158567834 158567834 G A rs528155939 SERAC1 Nonsynonymous SNV S156L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 228504 chr20 55841143 55841143 G C rs1021408170 BMP7 Nonsynonymous SNV H12Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.18 228505 chr5 137536863 137536863 G C CDC23 Nonsynonymous SNV T196S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 228506 chr16 57110758 57110758 C T rs113401504 NLRC5 Synonymous SNV V1564V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.56 228507 chr1 241797586 241797586 A G CHML Nonsynonymous SNV C495R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 228508 chr5 140073175 140073175 G - rs753879089 HARS2 0 0.003 0 0 0 1 0 0 0 0 0 0 228509 chr6 161469998 161469998 T C rs759572040 MAP3K4 Synonymous SNV L232L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.38 228510 chr5 140433491 140433491 G T PCDHB1 Nonsynonymous SNV Q812H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 228511 chr20 60908460 60908460 G A rs372093652 LAMA5 Synonymous SNV Y1033Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.233 228512 chr6 167440092 167440092 C T rs746735007 FGFR1OP Nonsynonymous SNV S279L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 228513 chr15 34653660 34653660 T C LPCAT4 Nonsynonymous SNV R362G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.71 228514 chr6 18264180 18264180 G C rs149922043 DEK Synonymous SNV T13T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.095 228515 chr15 41804341 41804341 C A rs753287594 LTK Nonsynonymous SNV G161V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 228516 chr17 74276118 74276118 G A rs750903928 QRICH2 Nonsynonymous SNV R1416W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 228517 chr10 13699143 13699151 CGCCCCCCG - FRMD4A A507_G509del 0.001 0 0 0 1 0 0 0 0 0 0 0 228518 chr1 28800530 28800530 C T rs200781337 PHACTR4 Nonsynonymous SNV P440S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.4 228519 chr10 17147496 17147496 T C rs140397272 CUBN Nonsynonymous SNV N397S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.171 228520 chr15 43620674 43620674 G A LCMT2 Nonsynonymous SNV P672S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.79 228521 chr6 33756717 33756717 C G LEMD2 Nonsynonymous SNV E59D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.828 228522 chr1 3413269 3413269 G A rs753892111 MEGF6 Nonsynonymous SNV T1231M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 228523 chr15 45707879 45707879 G T SPATA5L1 Nonsynonymous SNV C580F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 228524 chr1 3649625 3649625 G A rs556745030 TP73 Synonymous SNV T501T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.686 228525 chr1 36785700 36785700 C A rs749677503 SH3D21 Nonsynonymous SNV A368D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 228526 chr6 37427439 37427439 C T rs777409300 CMTR1 Synonymous SNV V358V 0.001 0 0 0 1 0 0 0 0 0 0 0 17 228527 chr6 393359 393359 G C rs74746812 IRF4 Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 228528 chr6 42824891 42824891 G A rs200962323 BICRAL Nonsynonymous SNV R724Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 228529 chr15 59191890 59191890 G A SLTM Nonsynonymous SNV P261L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 228530 chr21 45557072 45557072 G A rs750218346 GATD3A, GATD3B Nonsynonymous SNV E22K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 228531 chr15 60758806 60758806 C T rs761991924 ICE2 Nonsynonymous SNV R35H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 228532 chr1 43898013 43898013 C T rs138028425 SZT2 Nonsynonymous SNV A1725V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 228533 chr6 44145138 44145138 T C rs528547877 CAPN11 Nonsynonymous SNV I466T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 228534 chr1 46496298 46496298 G A rs199702861 MAST2 Nonsynonymous SNV R858Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 228535 chr1 47124392 47124392 T C rs759221069 ATPAF1 Synonymous SNV K154K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.81 228536 chr1 47717563 47717563 T C STIL Nonsynonymous SNV I1038V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 228537 chr15 67457359 67457359 C T rs762612490 SMAD3 Synonymous SNV F6F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.31 228538 chr4 3076610 3076618 CAGCAGCAG - HTT Q36_Q38del 0 0.003 0 0 0 1 0 0 0 0 0 0 228539 chr1 29486900 29486900 G A rs771063725 SRSF4 Synonymous SNV Y79Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.545 228540 chr1 32134404 32134404 G A rs570570828 COL16A1 Nonsynonymous SNV P1083L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.3 228541 chr1 32946622 32946622 C T rs774509172 ZBTB8B Synonymous SNV C374C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.44 228542 chr6 56504772 56504772 A C DST Synonymous SNV A321A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 228543 chr1 3648052 3648052 A G TP73 Nonsynonymous SNV N359D 0 0 0 4 0 0 0.01 0 0 0 0 0 23.3 228544 chr10 72291143 72291143 A C rs780187026 PALD1 Nonsynonymous SNV H189P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 228545 chr15 80137578 80137578 G C MTHFS, ST20-MTHFS Nonsynonymous SNV L139V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 228546 chr10 72358561 72358561 C T rs763002067 PRF1 Nonsynonymous SNV G306S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 228547 chr1 67559105 67559105 A T rs139714797 C1orf141 Synonymous SNV S262S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 228548 chr5 64036991 64036991 C T SREK1IP1 Nonsynonymous SNV R33Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 228549 chr1 70801784 70801784 - A rs780661947 ANKRD13C 0 0 0.003 0 0 0 0 1 0 0 0 0 228550 chr6 89868066 89868066 A - PM20D2 H312Lfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 228551 chr3 58512332 58512332 G C ACOX2 Nonsynonymous SNV Q403E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.005 228552 chr6 90418221 90418221 - CAGCTGATT MDN1 A2630_A2631insESA 0.001 0 0 0 1 0 0 0 0 0 0 0 228553 chr22 36537671 36537671 T G rs132619 APOL3 Synonymous SNV R262R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.13 228554 chr10 88418377 88418377 G A rs374126353 OPN4 Synonymous SNV A187A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.797 228555 chr1 84948653 84948653 C A rs150021810 RPF1 Nonsynonymous SNV T114N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 31 228556 chr15 89862203 89862203 A G POLG Nonsynonymous SNV C1078R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.5 228557 chr5 71756990 71756990 G A rs149603735 ZNF366 Nonsynonymous SNV L112F 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 2.008 228558 chr15 90171769 90171769 G C rs756750505 KIF7 Nonsynonymous SNV R1305G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 228559 chr15 90801452 90801452 T A rs200331496 TTLL13P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.1 228560 chr3 8983237 8983237 C A RAD18 Nonsynonymous SNV R173L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 228561 chr1 89480240 89480240 C T rs756860450 GBP3 Nonsynonymous SNV D140N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.6 228562 chr1 52253070 52253070 T A rs748052295 OSBPL9 Nonsynonymous SNV D504E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.96 228563 chr5 79027923 79027923 A G rs201246764 CMYA5 Nonsynonymous SNV K1112R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.56 228564 chr15 100821497 100821497 G A rs753943670 ADAMTS17 Synonymous SNV A242A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.6 228565 chr10 99350151 99350151 A C rs750889147 C10orf62 Nonsynonymous SNV E166A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 228566 chr10 99376053 99376053 G A rs372240575 MORN4 Synonymous SNV S136S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.67 228567 chr11 100847118 100847118 G A rs971680970 ARHGAP42 Nonsynonymous SNV G729E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.487 228568 chr20 13763433 13763433 C T ESF1 Synonymous SNV K118K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.212 228569 chr1 6479397 6479397 A T HES2 Nonsynonymous SNV S49T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 228570 chr7 100647963 100647963 C T rs778652108 MUC12 Nonsynonymous SNV R4707C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 228571 chr16 2050177 2050177 G C rs770605589 ZNF598 Nonsynonymous SNV T458S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 228572 chr16 2521896 2521896 G C NTN3 Nonsynonymous SNV R65P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.74 228573 chr6 110300598 110300598 G A GPR6 Nonsynonymous SNV A95T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 228574 chr5 111570400 111570400 G A rs200139281 EPB41L4A Nonsynonymous SNV P340S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 228575 chr19 1073673 1073673 A G ARHGAP45 Synonymous SNV T100T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.43 228576 chr16 3293442 3293442 A G MEFV Nonsynonymous SNV L682P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 228577 chr1 8422892 8422892 G A RERE Nonsynonymous SNV R31C 0 0 0 4 0 0 0.01 0 0 0 0 0 35 228578 chr11 103039644 103039644 T C rs376188702 DYNC2H1 Synonymous SNV C1641C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.35 228579 chr11 103194649 103194649 C T rs370818346 DYNC2H1 Synonymous SNV D3990D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 16.66 228580 chr20 31238424 31238424 C A C20orf203 Nonsynonymous SNV R132L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.228 228581 chr19 1453018 1453018 G A rs755548912 APC2 Synonymous SNV A6A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.2 228582 chr19 1487258 1487258 C T rs139666108 PCSK4 Nonsynonymous SNV S246N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 228583 chr20 34096808 34096808 A G rs114001563 CEP250 Nonsynonymous SNV M1683V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 228584 chr11 108577483 108577483 A C DDX10 Nonsynonymous SNV E414A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.5 228585 chr16 11141178 11141178 A G CLEC16A Synonymous SNV E597E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.144 228586 chr7 128845088 128845088 A G rs56334250 SMO Synonymous SNV E194E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.308 228587 chr11 111631646 111631646 G A rs200931226 PPP2R1B Nonsynonymous SNV R82C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 228588 chr1 915440 915440 A G rs780403874 PERM1 Nonsynonymous SNV S324P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.066 228589 chr20 44005966 44005966 G A TP53TG5 Nonsynonymous SNV S47L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 228590 chr17 40001505 40001505 T C rs141860514 KLHL10 Nonsynonymous SNV M183T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.595 228591 chr7 139281465 139281465 G T HIPK2 Synonymous SNV T878T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 228592 chr20 45085974 45085974 C T ZNF663P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.647 228593 chr16 23722262 23722262 T A rs55780778 ERN2 Synonymous SNV T57T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.67 228594 chr4 178283557 178283557 G A NEIL3 Nonsynonymous SNV E584K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 228595 chr20 13846091 13846091 C T rs754764779 SEL1L2 Nonsynonymous SNV D492N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.67 228596 chr17 42981902 42981902 G A rs753202902 FAM187A Synonymous SNV L235L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.591 228597 chr20 50407735 50407735 A C rs143818932 SALL4 Nonsynonymous SNV F429L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.1 228598 chr20 52779338 52779338 C G rs76747058 CYP24A1 Nonsynonymous SNV C303S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.21 228599 chr16 31473751 31473751 C T rs763400694 ARMC5 Nonsynonymous SNV R295W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 228600 chr7 149523594 149523594 C T SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 228601 chr20 57430226 57430226 G T rs753626817 GNAS Nonsynonymous SNV R573S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 228602 chr16 49669736 49669736 C T rs113531514 ZNF423 Synonymous SNV P992P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.09 228603 chr16 50707375 50707375 C T SNX20 Nonsynonymous SNV R298K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.082 228604 chr16 50745143 50745143 G A rs104895432 NOD2 Nonsynonymous SNV E414K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.68 228605 chr4 26483599 26483599 G A rs202200466 CCKAR Synonymous SNV I316I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 228606 chr20 6078277 6078277 T C FERMT1 Nonsynonymous SNV Y284C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 228607 chr6 168377051 168377051 - T rs766552740 HGC6.3 Frameshift insertion H95Pfs*49 0 0.003 0 0 0 1 0 0 0 0 0 0 228608 chr4 367246 367247 AT - rs782523331 ZNF141 Stop gain C265* 0.001 0 0 0 1 0 0 0 0 0 0 0 228609 chr2 170401300 170401300 A G rs781422946 FASTKD1 Synonymous SNV L560L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.363 228610 chr16 68002555 68002555 C T rs561348331 SLC12A4 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 228611 chr20 32031206 32031206 G A rs572545726 SNTA1 Nonsynonymous SNV P74L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.45 228612 chr16 69390938 69390938 C T rs150757154 TERF2 Nonsynonymous SNV E498K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 228613 chr11 134104883 134104883 G A rs184697812 VPS26B Nonsynonymous SNV D106N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 228614 chr4 47593308 47593308 C T rs770055783 ATP10D Synonymous SNV N1397N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 228615 chr2 179455352 179455352 C T rs141973925 TTN Nonsynonymous SNV R11302Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 228616 chr21 28212803 28212803 C T rs758702908 ADAMTS1 Nonsynonymous SNV R486Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 228617 chr6 26246998 26246998 C T rs778092220 H4C7 Nonsynonymous SNV A70T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 228618 chr2 179611809 179611809 - TATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG rs397517815 TTN E5112_A5113insTLERYSTPPGE 0.001 0 0 0 1 0 0 0 0 0 0 0 228619 chr2 179614949 179614949 C T rs770870896 TTN Nonsynonymous SNV A4060T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.488 228620 chr20 3765827 3765829 TCC - rs745612729 CENPB E435del 0 0 0 2 0 0 0.005 0 0 0 0 0 228621 chr6 26392755 26392755 G A rs780036037 BTN2A2 Nonsynonymous SNV A168T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.403 228622 chr11 17741548 17741548 G A rs373565128 MYOD1 Synonymous SNV P73P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 5 228623 chr21 31964907 31964907 G T rs75088048 KRTAP6-3 Nonsynonymous SNV G48V 0.002 0.003 0.01 1 2 1 0.003 3 0 0 0 0 Benign 6.958 228624 chr4 6043925 6043925 G A rs113514072 JAKMIP1 Synonymous SNV A686A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 10.61 228625 chr16 81324140 81324140 G C BCO1 Nonsynonymous SNV Q534H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.469 228626 chr17 73058226 73058226 C G KCTD2 Nonsynonymous SNV I216M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 228627 chr17 73214323 73214323 T C rs373493294 NUP85 Synonymous SNV H127H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.133 228628 chr2 186611490 186611490 C T rs190877383 FSIP2 Nonsynonymous SNV R238W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 228629 chr17 73736932 73736932 G A rs764264157 ITGB4 Nonsynonymous SNV R870Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 228630 chr6 33660634 33660634 A G rs145811622 ITPR3 Nonsynonymous SNV K2530E 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 228631 chr2 188343466 188343466 G A rs6722616 TFPI Synonymous SNV N231N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.14 228632 chr2 191064594 191064594 G C rs180825808 C2orf88 Nonsynonymous SNV C3S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 228633 chr21 43325926 43325926 T C rs754792076 C2CD2 Nonsynonymous SNV I292V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 228634 chr16 88555484 88555484 G A rs373396723 ZFPM1 Nonsynonymous SNV G64D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.047 228635 chr21 43528567 43528567 C T rs148304938 UMODL1-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 5.312 228636 chr2 19553373 19553373 G A rs375985128 OSR1 Nonsynonymous SNV P65L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 228637 chr21 43531589 43531589 G C rs548802761 UMODL1 Nonsynonymous SNV D681H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 228638 chr20 56078504 56078504 C T rs142170954 CTCFL Nonsynonymous SNV A348T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.63 228639 chr7 4830329 4830329 C T rs61750324 AP5Z1 Nonsynonymous SNV S499L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 26.2 228640 chr4 82126123 82126123 G A rs187350442 PRKG2 Nonsynonymous SNV R27W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 228641 chr20 57415434 57415434 A C GNAS Synonymous SNV A91A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.106 228642 chr21 45945537 45945537 T C rs200789378 TSPEAR Synonymous SNV E445E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.08 228643 chr6 46658892 46658892 A T rs9381471 TDRD6 Synonymous SNV A1009A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.002 228644 chr19 43093655 43093655 G C rs144009826 CEACAM8 Nonsynonymous SNV N219K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 228645 chr6 49518515 49518515 C G C6orf141 Nonsynonymous SNV P4A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.811 228646 chr5 101774329 101774329 G A rs146187374 SLCO6A1 Nonsynonymous SNV T361I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 228647 chr17 3379656 3379656 - G ASPA Frameshift insertion D68Efs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 228648 chr7 77885284 77885284 T C rs760890102 MAGI2 Nonsynonymous SNV T675A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 228649 chr20 62374119 62374119 C T rs750648891 SLC2A4RG Nonsynonymous SNV S343F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 228650 chr5 76349814 76349814 G A rs138589794 AGGF1 Nonsynonymous SNV V498I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.56 228651 chr22 24041158 24041165 ACCAGGGA - rs752336308 RGL4 Q535Hfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 228652 chr2 219498367 219498367 G A rs773968756 PLCD4 Nonsynonymous SNV V497I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 228653 chr22 24622068 24622078 GCCACGGCGCT - GGT5 S322Cfs*111 0 0 0.003 0 0 0 0 1 0 0 0 0 228654 chr22 25119143 25119143 G C rs754500300 PIWIL3 Nonsynonymous SNV P780A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 228655 chr22 26224809 26224809 C T rs769985379 MYO18B Synonymous SNV N951N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 228656 chr17 4803768 4803768 A G rs746035995 C17orf107 Synonymous SNV Q171Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.167 228657 chr17 4871068 4871068 G C rs747967498 SPAG7 Nonsynonymous SNV S11C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 228658 chr21 31538416 31538416 C G rs148072252 CLDN17 Nonsynonymous SNV V174L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.054 228659 chr18 7036022 7036022 G A rs111267165 LAMA1 Synonymous SNV D601D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 4.578 228660 chr2 224463209 224463209 C T rs770954298 SCG2 Synonymous SNV E264E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.971 228661 chr22 31284281 31284281 G T rs142260765 OSBP2 Nonsynonymous SNV D3Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 228662 chr8 103293729 103293729 G A UBR5 Synonymous SNV S1905S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 228663 chr2 227967908 227967908 T C COL4A4 Nonsynonymous SNV I274M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.34 228664 chr22 32111397 32111397 T C PRR14L Nonsynonymous SNV S810G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.694 228665 chr5 135692835 135692835 C A rs777935954 TRPC7 Nonsynonymous SNV A81S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 228666 chr17 7951161 7951161 C T rs762065277 ALOX15B Synonymous SNV T519T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 228667 chr2 231327185 231327185 G A rs371672997 SP100 Nonsynonymous SNV V312I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.889 228668 chr5 140012238 140012238 G C CD14 Nonsynonymous SNV R111G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 228669 chr17 9680527 9680527 A C rs746506555 DHRS7C Nonsynonymous SNV I185S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 228670 chr17 9862554 9862554 G T rs916695252 GAS7 Nonsynonymous SNV P24T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.7 228671 chr2 233834949 233834949 T C rs746103889 NGEF Nonsynonymous SNV T120A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 228672 chr18 29797053 29797053 C T rs926275796 MEP1B Nonsynonymous SNV T620I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.33 228673 chr17 10543084 10543084 G A rs746972140 MYH3 Synonymous SNV C906C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.678 228674 chr22 40697170 40697170 G T TNRC6B Nonsynonymous SNV S1208I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 228675 chr22 41790196 41790196 T C rs762053285 TEF Nonsynonymous SNV V161A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.974 228676 chr21 45475736 45475736 G C rs760489413 TRAPPC10 Nonsynonymous SNV E214Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 228677 chr18 34232736 34232736 G A rs1021403581 FHOD3 Nonsynonymous SNV R497Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.472 228678 chr11 56128051 56128051 C T rs768285352 OR8J1 Nonsynonymous SNV S110L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.96 228679 chr21 46930005 46930006 CT - rs398122391 COL18A1 L1352Vfs*72 0.001 0 0 2 1 0 0.005 0 0 0 0 0 228680 chr17 20107657 20107657 A T rs140199646 SPECC1 Nonsynonymous SNV T18S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 228681 chr18 59768322 59768322 C G PIGN Nonsynonymous SNV S688T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 228682 chr8 142367220 142367220 G A rs201980539 GPR20 Synonymous SNV P268P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.839 228683 chr17 25936346 25936346 G A rs779694982 KSR1 Nonsynonymous SNV R739Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.44 228684 chr17 26715534 26715534 T C SARM1 Synonymous SNV H632H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.362 228685 chr17 26726686 26726686 G A rs186143284 SLC46A1 Nonsynonymous SNV P428S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 11.21 228686 chr17 26906171 26906171 G A SPAG5 Synonymous SNV C1035C 0 0.003 0 0 0 1 0 0 0 0 0 0 6.76 228687 chr17 27239841 27239841 C T rs141726505 PHF12 Nonsynonymous SNV R583Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.9 228688 chr18 72999410 72999410 C T rs148177355 TSHZ1 Nonsynonymous SNV T683M 0.003 0 0 2 4 0 0.005 0 0 0 0 0 0.07 228689 chr11 57480238 57480238 - CCA TMX2 T51_Q52insT 0.001 0 0 1 1 0 0.003 0 0 0 0 0 228690 chr7 116166651 116166651 G A rs941817089 CAV1 Nonsynonymous SNV E4K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 228691 chr19 373509 373509 G C rs148972809 THEG Nonsynonymous SNV R152G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 228692 chr8 145095062 145095062 G A rs138478557 SPATC1 Nonsynonymous SNV S155N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.112 228693 chr2 113496575 113496575 C T rs750251080 CKAP2L Nonsynonymous SNV R523Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 228694 chr2 118575259 118575267 AAGAAAAAG - rs551150792 DDX18 K112_K114del 0 0 0.003 0 0 0 0 1 0 0 0 0 228695 chr2 120194788 120194788 C T rs201717565 TMEM37 Synonymous SNV C115C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.444 228696 chr19 1084331 1084331 C T rs781150380 ARHGAP45 Nonsynonymous SNV A652V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 228697 chr2 136567034 136567034 G A rs140994860 LCT Synonymous SNV A961A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.47 228698 chr2 1544450 1544450 C T rs141684908 TPO Synonymous SNV A857A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.24 228699 chr22 38696843 38696843 C T CSNK1E, TPTEP2-CSNK1E Nonsynonymous SNV G151S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 228700 chr2 55122149 55122149 C T rs374969726 EML6 Nonsynonymous SNV S947L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 228701 chr11 63531235 63531235 A C C11orf95 Synonymous SNV P564P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.007 228702 chr11 637335 637335 G C rs189482961 DRD4 Nonsynonymous SNV G11R 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 15.46 228703 chr17 40274901 40274901 G A rs782758187 HSPB9 Synonymous SNV E11E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.718 228704 chr2 166234112 166234112 G C SCN2A Synonymous SNV T1420T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 228705 chr17 40832419 40832419 G C rs781087741 CCR10 Nonsynonymous SNV L81V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 228706 chr11 64606213 64606213 C T rs749101098 CDC42BPG Synonymous SNV A346A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.416 228707 chr2 70923455 70923455 G A rs376988741 ADD2 Synonymous SNV L148L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 228708 chr19 6734050 6734050 G A rs201148371 GPR108 Nonsynonymous SNV A172V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.013 228709 chr2 172291647 172291647 T C DCAF17 Nonsynonymous SNV Y61H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 228710 chr2 73652023 73652023 T C ALMS1 Synonymous SNV Y410Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 228711 chr8 52321802 52321802 G A rs369170887 PXDNL Synonymous SNV T794T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.917 228712 chr22 50599434 50599434 C T rs773896738 MOV10L1 Synonymous SNV N295N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.727 228713 chr17 47297657 47297657 C G rs141746983 ABI3 Synonymous SNV P251P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.713 228714 chr22 50960002 50960002 C T rs138253876 NCAPH2 Nonsynonymous SNV P322S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29.8 228715 chr2 95943263 95943263 A G rs139763415 PROM2 Synonymous SNV A308A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.3 228716 chr2 100015265 100015265 G A rs775154291 EIF5B Nonsynonymous SNV V1150I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.79 228717 chr17 48687291 48687291 C A rs758840349 CACNA1G Nonsynonymous SNV A1528E 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 228718 chr11 67021069 67021069 G A rs371429379 KDM2A Synonymous SNV P587P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.07 228719 chr11 67203608 67203608 C T rs61731772 PTPRCAP Nonsynonymous SNV A73T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.4 228720 chr2 101609899 101609899 G A rs772318572 NPAS2 Synonymous SNV Q734Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.696 228721 chr19 8922044 8922044 T G ZNF558 Nonsynonymous SNV K303N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 228722 chr8 87414340 87414340 A G rs372903662 WWP1 Nonsynonymous SNV D211G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 20.2 228723 chr2 186661744 186661744 T C FSIP2 Nonsynonymous SNV M3294T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 228724 chr8 87563314 87563316 CCT - rs542894016 CPNE3 P353del 0.001 0 0 0 1 0 0 0 0 0 0 0 228725 chr8 95262766 95262766 A G GEM Synonymous SNV S221S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 228726 chr2 196548483 196548483 A G SLC39A10 Nonsynonymous SNV T357A 0 0 0.007 0 0 0 0 2 0 0 1 0 12.15 228727 chr17 60768014 60768014 G A rs151096596 MRC2 Nonsynonymous SNV V1302I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.18 228728 chr19 9024995 9024995 G A rs375977247 MUC16 Synonymous SNV P12289P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.53 228729 chr2 114493370 114493370 A G SLC35F5 Synonymous SNV I266I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.252 228730 chr11 74800437 74800437 G T rs139499548 OR2AT4 Nonsynonymous SNV L108I 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 23.5 228731 chr2 207025380 207025380 G A EEF1B2 Nonsynonymous SNV C50Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 228732 chr9 111909339 111909339 T G rs763406191 FRRS1L Nonsynonymous SNV K203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.9 228733 chr2 128262841 128262841 C A rs374766966 IWS1 Nonsynonymous SNV S213I 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.31 228734 chr19 11347107 11347107 G T rs527383547 DOCK6 Synonymous SNV P769P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 228735 chr19 992106 992106 G A rs199993467 WDR18 Synonymous SNV L361L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.14 228736 chr6 105581331 105581331 T A BVES Nonsynonymous SNV H41L 0.001 0 0 0 1 0 0 0 0 0 0 0 29 228737 chr11 7960835 7960835 G A rs150971423 OR10A3 Nonsynonymous SNV T78M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.039 228738 chr2 220088887 220088887 C T rs762204626 ATG9A Synonymous SNV L402L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.35 228739 chr3 12616304 12616304 C T rs772958057 MKRN2 Nonsynonymous SNV T176M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 228740 chr7 56022813 56022813 C T rs144949580 MRPS17 Nonsynonymous SNV S112L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.588 228741 chr17 74721590 74721590 G A rs200613423 JMJD6 Synonymous SNV D159D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 6.007 228742 chr2 220405177 220405177 C T rs145738935 CHPF Nonsynonymous SNV R257Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.544 228743 chr17 74740465 74740465 A G rs77026620 MFSD11 Synonymous SNV L134L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.95 228744 chr2 220422292 220422292 C T rs77287119 OBSL1 Nonsynonymous SNV R1280Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 25.3 228745 chr6 116972787 116972787 C A rs765027534 ZUP1 Nonsynonymous SNV A226S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 228746 chr2 220477910 220477910 C T rs370366394 STK11IP Nonsynonymous SNV R834C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25 228747 chr6 117248611 117248611 G A rs773030566 RFX6 Nonsynonymous SNV M769I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 228748 chr6 119252879 119252879 C T rs760884661 MCM9 Nonsynonymous SNV D4N 0.003 0 0 0 3 0 0 0 0 0 0 0 28 228749 chr9 130939930 130939930 G A rs12334 CIZ1 Nonsynonymous SNV S477F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.86 228750 chr9 131185250 131185250 G A rs139960136 CERCAM Nonsynonymous SNV E23K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 228751 chr12 102043117 102043117 A G rs376678077 MYBPC1 Nonsynonymous SNV I375V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.035 228752 chr9 131191073 131191073 T G rs140184468 CERCAM Synonymous SNV T230T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 228753 chr9 131193519 131193519 G A rs3174220 CERCAM Synonymous SNV S302S 0.003 0 0 0 3 0 0 0 1 0 0 0 11.29 228754 chr2 233735045 233735045 G A rs766255599 SNORC Synonymous SNV P22P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.65 228755 chr19 17370469 17370469 G A rs201874448 USHBP1 Nonsynonymous SNV L217F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.79 228756 chr2 234343037 234343037 A G DGKD Synonymous SNV P76P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.383 228757 chr12 105445974 105445974 C T rs140095224 ALDH1L2 Nonsynonymous SNV A477T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 228758 chr6 139189297 139189297 C T rs202079003 ECT2L Nonsynonymous SNV A511V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 not provided 12.78 228759 chr12 107048103 107048103 C A rs375950761 RFX4 Nonsynonymous SNV P106T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 228760 chr17 79872024 79872024 C T rs199686652 SIRT7 Nonsynonymous SNV R279H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.78 228761 chr12 108145312 108145312 C T rs770570837 PRDM4 Nonsynonymous SNV V336I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.4 228762 chr2 238647938 238647938 C T rs763535203 LRRFIP1 Nonsynonymous SNV R207W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.23 228763 chr18 580412 580412 G A rs115842359 CETN1 Nonsynonymous SNV A2T 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 22.8 228764 chr9 136031315 136031315 T C rs117595304 GBGT1 Nonsynonymous SNV Y49C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.6 228765 chr9 136200584 136200584 C T rs371147361 SURF6 Synonymous SNV L121L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 228766 chr19 19017849 19017849 G A rs1028566823 COPE Synonymous SNV L121L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.561 228767 chr6 157100024 157100026 GGA - rs754500538 ARID1B G328del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 228768 chr18 11897252 11897252 G A rs201990376 MPPE1 Synonymous SNV I4I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.251 228769 chr18 12702489 12702489 C T rs937735448 CEP76 Nonsynonymous SNV S20N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.87 228770 chr8 109462056 109462057 GA - EMC2 Stop gain D17* 0 0.003 0 0 0 1 0 0 0 0 0 0 228771 chr12 123472883 123472883 G A rs139418911 PITPNM2 Synonymous SNV D959D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.183 228772 chr12 124409718 124409721 TGAC - DNAH10 D3847Mfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 228773 chr7 100682862 100682862 C T rs760051515 MUC17 Nonsynonymous SNV P2722L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.253 228774 chr12 125348255 125348255 G A rs2070242 SCARB1 Synonymous SNV S4S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.97 228775 chr7 100686101 100686101 A G rs770663948 MUC17 Nonsynonymous SNV T3802A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.193 228776 chr12 125441323 125441323 T G rs115567271 DHX37 Synonymous SNV A789A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 0.17 228777 chr2 32734845 32734845 A G rs146442505 BIRC6 Nonsynonymous SNV I3341V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 228778 chr12 125561118 125561118 C A rs77474358 AACS Synonymous SNV R107R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.5 228779 chr18 39617742 39617742 T G PIK3C3 Synonymous SNV R579R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.397 228780 chr19 36113831 36113831 C A HAUS5 Nonsynonymous SNV S613Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 228781 chr2 3469449 3469449 G A rs111556571 TRAPPC12 Nonsynonymous SNV G587S 0 0 0.007 0 0 0 0 2 0 0 0 0 35 228782 chr19 36113841 36113841 G A rs200240183 HAUS5 Synonymous SNV Q616Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.345 228783 chr12 129293993 129293993 C T SLC15A4 Nonsynonymous SNV S346N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 228784 chr18 43577793 43577793 G A PSTPIP2 Synonymous SNV D188D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.285 228785 chr18 44063622 44063622 C T rs760286647 LOXHD1 Nonsynonymous SNV R329Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 27.1 228786 chr18 46448236 46448236 C T rs770834918 SMAD7 Nonsynonymous SNV V75M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 228787 chr12 133198160 133198160 G A rs199514327 P2RX2 Nonsynonymous SNV G366R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.322 228788 chr6 24847835 24847835 G A rs866169985 RIPOR2 Nonsynonymous SNV R388C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 228789 chr2 53943803 53943803 C T rs140678678 ASB3, GPR75-ASB3 Nonsynonymous SNV V155M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 31 228790 chr9 35906595 35906595 A C rs58509439 HRCT1 Nonsynonymous SNV H104P 0.004 0 0 0 5 0 0 0 1 0 0 0 9.286 228791 chr8 144621340 144621340 T C rs745500359 ZC3H3 Nonsynonymous SNV H66R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.256 228792 chr2 70223948 70223948 G A rs561188950 PCBP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.167 228793 chr18 76757212 76757212 A G SALL3 Nonsynonymous SNV T1265A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.176 228794 chr12 27553662 27553662 T C rs147385471 ARNTL2 Nonsynonymous SNV I335T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 228795 chr8 144943429 144943429 G C EPPK1 Stop gain Y1331X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 228796 chr2 220493937 220493937 C T rs200688220 SLC4A3 Nonsynonymous SNV R97W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 228797 chr9 77684824 77684824 G C rs146012983 NMRK1 Nonsynonymous SNV L102V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 228798 chr2 74643191 74643191 C T rs1012992677 C2orf81 Nonsynonymous SNV D69N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 228799 chr19 44039217 44039217 C T ZNF575 Nonsynonymous SNV S39L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.627 228800 chr19 44039313 44039313 C T rs774613560 ZNF575 Nonsynonymous SNV A71V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 228801 chr12 32137866 32137866 A T rs368576980 RESF1 Nonsynonymous SNV H1326L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 228802 chr12 4459003 4459003 G T TIGAR Stop gain E71X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 228803 chr2 88874534 88874534 T C rs374540128 EIF2AK3 Nonsynonymous SNV K672E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.336 228804 chr8 16012590 16012590 C T rs41440349 MSR1 Nonsynonymous SNV G312E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.2 228805 chr6 43418453 43418453 A T rs41281806 DLK2 Nonsynonymous SNV L289M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 228806 chr9 99086410 99086410 T C rs753448649 SLC35D2 Nonsynonymous SNV N177S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 228807 chr9 99404131 99404131 C A rs140240239 PRXL2C Nonsynonymous SNV R197S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 228808 chr3 100527056 100527056 G A rs1017009769 ABI3BP Nonsynonymous SNV P541S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 228809 chr19 45150618 45150618 G A rs758071838 PVR Nonsynonymous SNV R68Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 228810 chr12 50561058 50561058 G A CERS5 Nonsynonymous SNV P8L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.483 228811 chr19 4157147 4157147 C T rs537344264 CREB3L3 Synonymous SNV S103S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 228812 chr12 520988 520988 G A CCDC77 Synonymous SNV E6E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.614 228813 chr2 241404914 241404914 C T rs2228329 GPC1 Synonymous SNV D431D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 12.85 228814 chr2 241508198 241508198 G A rs151335116 RNPEPL1 Synonymous SNV L65L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.97 228815 chr2 241905405 241905405 C A rs547225878 CROCC2 Nonsynonymous SNV T1319N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.468 228816 chr2 241905406 241905406 C G rs565863475 CROCC2 Synonymous SNV T1319T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 3.977 228817 chr19 6222200 6222200 G A rs748081218 MLLT1 Nonsynonymous SNV R348W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 228818 chr12 53242537 53242537 C T rs146219664 KRT78 Nonsynonymous SNV G60S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.8 228819 chr2 242743508 242743508 A G GAL3ST2 Nonsynonymous SNV Q375R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 228820 chr1 197390605 197390605 T C rs62636283 CRB1 Synonymous SNV N437N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 228821 chr6 80912832 80912832 G A rs761827220 BCKDHB Nonsynonymous SNV R285Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 228822 chr6 90385272 90385272 C T MDN1 Synonymous SNV R4224R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 228823 chr19 9084098 9084098 A G MUC16 Nonsynonymous SNV S2573P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.96 228824 chr12 6483946 6483946 - CATGAGACCTGGTATGGGCTGCAGAGGTCTAGGGTCCTGCTCCTCCAGCTTGTTCCCCTT SCNN1A M60_E61insKGNKLEEQDPRPLQPIPGLM 0.001 0 0 0 1 0 0 0 0 0 0 0 228825 chr3 142987786 142987786 C T rs61750363 SLC9A9 Synonymous SNV P547P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.77 228826 chr3 148781251 148781251 C T rs111239765 HLTF Nonsynonymous SNV R376H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.33 228827 chr19 9269581 9269581 G A rs144190667 ZNF317 Synonymous SNV T123T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.926 228828 chr3 148782649 148782649 T C rs74820266 HLTF Nonsynonymous SNV Y332C 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.59 228829 chr3 148919962 148919962 A G rs34237139 CP Synonymous SNV Y425Y 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 3.594 228830 chr1 207760857 207760857 C T rs1018251912 CR1 Nonsynonymous SNV S1436F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 228831 chr19 9965006 9965006 G A rs768436512 OLFM2 Synonymous SNV D329D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.43 228832 chr2 53955861 53955861 G A ASB3, GPR75-ASB3 Nonsynonymous SNV L125F 0 0 0 1 0 0 0.003 0 0 0 0 0 28 228833 chr12 69264171 69264171 T C rs140860259 CPM Nonsynonymous SNV Y147C 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 8.563 228834 chr3 154002603 154002603 C T rs140951576 DHX36 Synonymous SNV L721L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 228835 chr3 158539805 158539805 C T rs758585554 MFSD1 Nonsynonymous SNV P279L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 228836 chr3 159744575 159744575 C - rs79395791 LINC01100 0 0 0.02 0 0 0 0 6 0 0 0 0 228837 chr12 7639315 7639315 G A rs147727599 CD163 Synonymous SNV D746D 0.004 0.005 0.007 0 5 2 0 2 0 0 0 0 7.106 228838 chr7 1027921 1027921 C T rs148421167 CYP2W1 Synonymous SNV P384P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 11.38 228839 chr19 14589279 14589279 G A rs142041396 GIPC1 Synonymous SNV F220F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 228840 chr12 88484561 88484561 G T rs776053422 CEP290 Nonsynonymous SNV Q1173K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 228841 chr2 96688858 96688858 A G GPAT2 Nonsynonymous SNV I718T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.376 228842 chr3 190578581 190578581 T C GMNC Nonsynonymous SNV T24A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 228843 chr7 91779998 91779998 T C LRRD1 Nonsynonymous SNV T710A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 228844 chr4 154471253 154471253 G A TMEM131L Nonsynonymous SNV G90S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 228845 chr19 17648194 17648194 C T NIBAN3 Nonsynonymous SNV T146I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.918 228846 chr19 17741071 17741071 T C rs191186164 UNC13A Synonymous SNV L1184L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.159 228847 chr8 101154182 101154182 G A rs779396084 FBXO43 Synonymous SNV G100G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.216 228848 chr13 113730378 113730378 C G MCF2L Nonsynonymous SNV I431M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.2 228849 chr4 169799318 169799318 A C rs863224385 PALLD Synonymous SNV P92P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.526 228850 chr19 23041021 23041023 ATA - ZNF723 H443_K444delinsQ 0 0.003 0 0 0 1 0 0 0 0 0 0 228851 chr3 44816862 44816862 G A rs199683472 KIF15 Nonsynonymous SNV R60Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 228852 chr20 10632306 10632306 C T rs200227737 JAG1 Nonsynonymous SNV R348K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 228853 chr7 151573604 151573604 G C rs1057522970 PRKAG2 Synonymous SNV R34R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.01 228854 chr19 36322639 36322639 A T NPHS1 Synonymous SNV P1064P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 228855 chr19 36430950 36430950 G A rs759676327 LRFN3 Nonsynonymous SNV R208Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 228856 chr20 22563682 22563682 C T rs146538183 FOXA2 Synonymous SNV A66A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.27 228857 chr3 50356405 50356405 C T rs149454549 HYAL2 Synonymous SNV A331A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 228858 chr20 24940338 24940338 G A rs753423813 CST7 Nonsynonymous SNV R143H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.221 228859 chr3 52366300 52366300 C T rs767304557 DNAH1 Synonymous SNV N392N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.44 228860 chr1 248201786 248201786 A C rs752972575 OR2L2 Nonsynonymous SNV I73L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 228861 chr3 52551990 52551990 G A rs376669647 STAB1 Nonsynonymous SNV G1578S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 228862 chr19 38572964 38572964 C A SIPA1L3 Synonymous SNV G253G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.594 228863 chr13 96553083 96553083 A G UGGT2 Nonsynonymous SNV M871T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.57 228864 chr4 39868528 39868528 T C PDS5A Synonymous SNV S865S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.083 228865 chr19 40366423 40366423 G A rs779909369 FCGBP Nonsynonymous SNV A4604V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 228866 chr19 40521151 40521151 T A rs150842478 ZNF546 Synonymous SNV I632I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 228867 chr19 40720043 40720043 C T rs377628789 MAP3K10 Synonymous SNV C819C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.792 228868 chr3 77617519 77617519 A C ROBO2 Synonymous SNV G635G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.087 228869 chr19 41893451 41893451 A G EXOSC5 Nonsynonymous SNV S195P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 228870 chr7 42005320 42005320 C T rs368061722 GLI3 Synonymous SNV P1117P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 8.36 228871 chr1 3379818 3379818 C T ARHGEF16 Nonsynonymous SNV P57L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.36 228872 chr14 20344799 20344799 G A rs199718838 OR4K2 Nonsynonymous SNV A125T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.4 228873 chr7 4285395 4285395 C G rs530887928 SDK1 Nonsynonymous SNV S600R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.7 228874 chr1 3411028 3411028 G A rs539461847 MEGF6 Synonymous SNV L1346L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.273 228875 chr7 43635583 43635583 A G rs138232263 STK17A Nonsynonymous SNV K97R 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 22.9 228876 chr3 99913008 99913008 A G rs146242419 TMEM30CP 0 0 0.007 0 0 0 0 2 0 0 0 0 0.202 228877 chr1 67195076 67195076 C G SGIP1 Synonymous SNV V427V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.76 228878 chr3 184064800 184064800 T C rs377119457 CLCN2 Nonsynonymous SNV I765V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.51 228879 chr1 43212476 43212476 T G P3H1 Nonsynonymous SNV E701D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.33 228880 chr19 47774833 47774833 T G rs148346378 CCDC9 Synonymous SNV P498P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.149 228881 chr3 185329499 185329499 C T rs150471029 SENP2 Synonymous SNV H261H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.38 228882 chr4 122853730 122853730 G C TRPC3 Nonsynonymous SNV T155R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 228883 chr7 6694050 6694050 C A ZNF316 Synonymous SNV T941T 0.003 0 0 3 3 0 0.008 0 0 0 0 0 4.103 228884 chr9 8436607 8436607 A C rs757743320 PTPRD Nonsynonymous SNV F950L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 228885 chr14 33525171 33525171 C T rs184013307 NPAS3 Synonymous SNV D37D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.42 228886 chr7 75612845 75612845 G A rs781866008 POR Nonsynonymous SNV D280N 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 228887 chr4 88400666 88400666 T C rs151251968 SPARCL1 Nonsynonymous SNV T503A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 228888 chr9 95482891 95482891 G A rs533852054 BICD2 Synonymous SNV R251R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.63 228889 chr4 140272738 140272738 A G NAA15 Synonymous SNV L329L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.753 228890 chr20 62192178 62192178 G A rs373402164 HELZ2 Synonymous SNV D1848D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.614 228891 chr7 7712942 7712959 AGCAGCAGCAGCAGCAGC - UMAD1 0.002 0 0 0 2 0 0 0 0 0 0 0 228892 chr1 52851594 52851594 C T rs150059660 ORC1 Nonsynonymous SNV A471T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.379 228893 chr4 153896182 153896182 G C rs367588756 FHDC1 Nonsynonymous SNV R580P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 228894 chr4 154502675 154502675 T C rs756455779 TMEM131L Synonymous SNV S285S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.395 228895 chrX 106221350 106221350 C T MORC4 Nonsynonymous SNV R339Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 228896 chr5 108521932 108521932 C T rs55876507 FER Synonymous SNV S376S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.83 228897 chr5 108714452 108714452 T C rs140050875 PJA2 Nonsynonymous SNV T246A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 228898 chr5 108714661 108714661 T C rs35224970 PJA2 Nonsynonymous SNV E176G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 228899 chr5 109152989 109152989 T C rs60646246 MAN2A1 Synonymous SNV Y653Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.072 228900 chrX 114425390 114425390 C T RBMXL3 Synonymous SNV S462S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.37 228901 chr8 71646219 71646219 G A rs748073249 XKR9 Nonsynonymous SNV V228I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 228902 chr14 58690342 58690342 C T rs199506195 ACTR10 Nonsynonymous SNV R213C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 228903 chr4 1657303 1657303 G A rs780771071 FAM53A Nonsynonymous SNV A95V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 228904 chr14 58955436 58955436 G C KIAA0586 Nonsynonymous SNV G1069R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.04 228905 chr14 59835514 59835514 A G DAAM1 Synonymous SNV K1048K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.668 228906 chr8 94797538 94797538 A T rs777641401 TMEM67 Nonsynonymous SNV H407L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.01 228907 chr19 52471863 52471863 A G rs4987042 ZNF350 Nonsynonymous SNV I69T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.001 228908 chr8 10467229 10467229 G A rs375792018 RP1L1 Nonsynonymous SNV T1460M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.984 228909 chr4 1806663 1806663 C T rs764488842 FGFR3 Nonsynonymous SNV P348L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 228910 chr8 96166360 96166360 A G PLEKHF2 Nonsynonymous SNV T30A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.275 228911 chr8 106814597 106814597 G A rs117908591 ZFPM2 Nonsynonymous SNV V710I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 11.67 228912 chr8 107782026 107782026 G A rs147263625 ABRA Synonymous SNV Y131Y 0.004 0.008 0 0 5 3 0 0 0 0 0 0 0.641 228913 chr8 11615894 11615894 C T rs761007335 GATA4 Synonymous SNV P414P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Likely benign 11.48 228914 chr8 11705312 11705312 G C CTSB Nonsynonymous SNV I60M 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.7 228915 chr19 53572226 53572226 G A rs769856276 ZNF160 Nonsynonymous SNV R521C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 228916 chr19 53612472 53612472 C G rs766404018 ZNF415 Nonsynonymous SNV E46Q 0 0.005 0 0 0 2 0 0 0 0 0 0 17.94 228917 chr8 124985696 124985696 G A rs370406374 FER1L6 Nonsynonymous SNV G157E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.5 228918 chr14 75537335 75537335 A T rs201007492 ZC2HC1C Nonsynonymous SNV N20I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 228919 chr14 75537346 75537346 G C rs202071124 ZC2HC1C Nonsynonymous SNV A24P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 228920 chr1 150444238 150444238 C T rs376327131 RPRD2 Synonymous SNV F912F 0.001 0.008 0 0 1 3 0 0 0 0 0 0 7.223 228921 chr9 114332436 114332436 C T rs777882674 PTGR1 Nonsynonymous SNV V272I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.97 228922 chr8 12879483 12879483 G A rs376890488 TRMT9B Nonsynonymous SNV R306H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.206 228923 chr5 140176402 140176402 C G PCDHA2 Nonsynonymous SNV A618G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 228924 chr4 41628963 41628963 A G rs977776100 LIMCH1 Nonsynonymous SNV K322E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.887 228925 chr1 155736258 155736258 C T rs61745601 GON4L Synonymous SNV K1002K 0 0.005 0 0 0 2 0 0 0 0 0 0 9.082 228926 chrX 67943646 67943646 G A rs201005000 STARD8 Nonsynonymous SNV S913N 0.003 0.003 0 0 3 1 0 0 1 0 0 0 18.2 228927 chr4 55129932 55129932 G A rs760631068 PDGFRA Nonsynonymous SNV E156K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.314 228928 chr14 96809461 96809461 G A rs61978568 ATG2B Nonsynonymous SNV P247S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.41 228929 chr5 149504384 149504384 G A rs199649903 PDGFRB Synonymous SNV L542L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.79 228930 chr14 99924727 99924727 G A rs115281851 SETD3 Synonymous SNV Y188Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 3.6 228931 chr14 99932071 99932071 T C rs34435718 SETD3 Synonymous SNV E24E 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 7.429 228932 chr19 58042444 58042444 A G ZNF549 Nonsynonymous SNV M14V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 228933 chr20 368860 368860 G T rs1016761523 TRIB3 Nonsynonymous SNV G69V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 228934 chr1 1563470 1563470 C T rs767997965 MIB2 Synonymous SNV V634V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.412 228935 chr4 71510453 71510453 C A rs114751362 ENAM Nonsynonymous SNV Q886K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 19.43 228936 chr8 145771119 145771119 C G ARHGAP39 Nonsynonymous SNV V679L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 228937 chr15 40093448 40093448 G C rs201005643 GPR176 Nonsynonymous SNV P433R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.2 228938 chr1 6324752 6324752 C T ACOT7 Nonsynonymous SNV E340K 0.001 0 0 0 1 0 0 0 0 0 0 0 24 228939 chr1 6532670 6532670 G A rs148232621 PLEKHG5 Nonsynonymous SNV R333W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.3 228940 chr8 21996475 21996475 G T REEP4 Nonsynonymous SNV L173M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 228941 chr22 38340246 38340246 C T rs144803714 C22orf23 Nonsynonymous SNV R176Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.4 228942 chr4 88535073 88535073 T C rs191967636 DSPP Nonsynonymous SNV V420A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.002 228943 chr15 42978999 42978999 C T rs1011502460 STARD9 Synonymous SNV P1741P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.242 228944 chr15 43552630 43552630 C A TGM5 Nonsynonymous SNV G53V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.18 228945 chr15 43577047 43577047 G A TGM7 Synonymous SNV A323A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.65 228946 chr20 10030704 10030704 T A rs140725218 ANKEF1 Nonsynonymous SNV I496N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 228947 chr15 45408863 45408863 A C rs374021597 DUOXA2 Nonsynonymous SNV S164R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.29 228948 chr22 43227577 43227577 T C rs145915372 ARFGAP3 Synonymous SNV E137E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.084 228949 chr5 10387154 10387154 C T rs745896413 MARCHF6 Nonsynonymous SNV T23M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 228950 chr4 119273752 119273752 G A PRSS12 Nonsynonymous SNV H42Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.373 228951 chr1 16256232 16256232 C G SPEN Nonsynonymous SNV T1166R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 228952 chr5 112175624 112175624 A G rs587780597 APC Nonsynonymous SNV T1427A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.077 228953 chr8 2967841 2967841 G A rs753995950 CSMD1 Synonymous SNV N2149N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.611 228954 chr20 25371321 25371321 G A rs1042378735 ABHD12 Nonsynonymous SNV P7S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.054 228955 chr20 30432954 30432954 C T rs41305797 FOXS1 Nonsynonymous SNV R131H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.44 228956 chr5 37121878 37121878 A G CPLANE1 Nonsynonymous SNV L2955P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 228957 chr20 31022625 31022625 G A rs151317625 ASXL1 Nonsynonymous SNV G643R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 24.8 228958 chr20 40790160 40790160 A G rs35071062 PTPRT Synonymous SNV L838L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.896 228959 chr15 57837841 57837841 G A CGNL1 Synonymous SNV K1184K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.17 228960 chr8 37702686 37702686 C T rs34191549 BRF2 Synonymous SNV V194V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.02 228961 chr20 32255791 32255791 T C rs769910610 ACTL10 Nonsynonymous SNV V163A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 228962 chr5 127595408 127595408 C G FBN2 Nonsynonymous SNV Q2826H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 228963 chr1 20880116 20880116 T C FAM43B Nonsynonymous SNV V217A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.179 228964 chr9 14775883 14775883 C T FREM1 Synonymous SNV Q123Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.195 228965 chr5 132270418 132270418 G A rs143884299 AFF4 Synonymous SNV P113P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.755 228966 chr20 37182629 37182629 G A rs769037416 RALGAPB Synonymous SNV T1094T 0 0.003 0 0 0 1 0 0 0 0 0 0 15 228967 chr20 37518261 37518261 G A rs763743444 PPP1R16B Nonsynonymous SNV V92I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 228968 chr4 153897866 153897866 A G FHDC1 Synonymous SNV L1141L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.83 228969 chr20 43132587 43132587 T A rs745780995 SERINC3 Synonymous SNV A308A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.43 228970 chr4 158059974 158059974 T C rs200824493 GLRB Synonymous SNV T208T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 5.027 228971 chrX 34148498 34148498 G A rs367549615 FAM47A Nonsynonymous SNV P633L 0.002 0 0 4 2 0 0.01 0 1 0 0 2 5.225 228972 chr5 140503920 140503920 G A rs144682616 PCDHB4 Synonymous SNV R780R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.182 228973 chr5 140745356 140745356 G T rs200109132 PCDHGA5 Nonsynonymous SNV V487F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.08 228974 chr1 27873916 27873916 G A rs763976609 AHDC1 Nonsynonymous SNV P1571S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 228975 chr1 29344821 29344821 T C EPB41 Nonsynonymous SNV Y296H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 228976 chr1 29527037 29527037 C T rs140895510 MECR Nonsynonymous SNV R198Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 228977 chr9 100843305 100843305 C T rs145067627 NANS Nonsynonymous SNV R271C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 228978 chrX 83129444 83129444 G A rs746666783 CYLC1 Synonymous SNV K576K 0.002 0 0 2 2 0 0.005 0 1 0 0 1 3.754 228979 chr20 52192387 52192387 G T rs373059588 ZNF217 Nonsynonymous SNV F972L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.65 228980 chr5 14488153 14488153 C T rs777943419 TRIO Synonymous SNV P2472P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 228981 chr15 81173334 81173334 G A rs72740115 CEMIP Synonymous SNV K158K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.812 228982 chr15 81235444 81235444 G C CEMIP 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.3 228983 chr4 185038946 185038946 T C ENPP6 Nonsynonymous SNV D214G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.6 228984 chr1 36553599 36553599 C A TEKT2 Nonsynonymous SNV H369N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 228985 chr15 85400350 85400350 T C ALPK3 Nonsynonymous SNV L794P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.428 228986 chr5 148689617 148689617 C T rs139614291 AFAP1L1 Synonymous SNV H249H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.4 228987 chr5 148980676 148980676 G T rs568489670 ARHGEF37 Synonymous SNV P64P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.873 228988 chr5 149311672 149311672 G A rs151083814 LOC644762 0 0 0.003 0 0 0 0 1 0 0 0 0 2.751 228989 chr9 109688284 109688284 C T rs766141979 ZNF462 Synonymous SNV D697D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.441 228990 chrX 119742206 119742206 C T MCTS1 Nonsynonymous SNV T131I 0.003 0 0 0 3 0 0 0 1 0 0 0 25.2 228991 chr1 39876476 39876476 G T rs971434041 KIAA0754 Nonsynonymous SNV G180V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 228992 chr4 265948 265948 G A ZNF732 Nonsynonymous SNV T233I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.906 228993 chr4 2833665 2833665 T C rs145949614 SH3BP2 Nonsynonymous SNV S456P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 23.3 228994 chr15 90188287 90188287 G A rs748726975 KIF7 Synonymous SNV N716N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.23 228995 chr1 228346768 228346768 G A GJC2 Nonsynonymous SNV V437M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 228996 chr15 90634851 90634851 C T rs145802942 IDH2 Synonymous SNV A47A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 17.38 228997 chr5 94044295 94044295 T C rs116314114 MCTP1 Synonymous SNV K643K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.195 228998 chr5 94956783 94956783 G A rs116554559 GPR150 Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.927 228999 chr1 45807641 45807641 T C rs145706522 TOE1 Synonymous SNV A118A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.378 229000 chr15 91496413 91496413 A G UNC45A Nonsynonymous SNV N672S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.34 229001 chr5 96253281 96253281 T C rs73152140 ERAP2 Nonsynonymous SNV L907P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 229002 chr5 96443086 96443086 T C LIX1 Nonsynonymous SNV Q122R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 229003 chr21 15974379 15974379 A C rs370454293 LOC388813 Nonsynonymous SNV Y94D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.006 229004 chr1 53974843 53974843 G A rs370061053 GLIS1 Nonsynonymous SNV P552L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 229005 chr1 54298250 54298250 G A NDC1 Synonymous SNV L65L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.597 229006 chr10 1063108 1063108 A G rs769766576 GTPBP4 Nonsynonymous SNV M616V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.83 229007 chr4 517674 517674 C T rs899791968 PIGG Nonsynonymous SNV R548W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 32 229008 chr21 32639158 32639158 G A rs374787879 TIAM1 Nonsynonymous SNV S44L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 229009 chr5 177673421 177673421 A G COL23A1 Nonsynonymous SNV S444P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.028 229010 chr21 35469440 35469440 C T rs141529022 SLC5A3 Nonsynonymous SNV T648M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.414 229011 chr16 1398114 1398114 C T rs144679706 BAIAP3 Nonsynonymous SNV A1020V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.22 229012 chr5 179442308 179442308 T C rs764426930 MIR340 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 229013 chr16 15155724 15155724 G A rs781410197 RRN3 Synonymous SNV G581G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.87 229014 chr21 40619680 40619680 G T rs140156148 BRWD1 Nonsynonymous SNV R810S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.675 229015 chr5 31302270 31302270 C A CDH6 Synonymous SNV G288G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 229016 chr16 1573873 1573873 C T rs773620301 IFT140 Nonsynonymous SNV E1076K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.9 229017 chr6 129612764 129612764 C T rs138018456 LAMA2 Nonsynonymous SNV R919C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 229018 chr5 34863072 34863072 C T rs34566695 TTC23L Nonsynonymous SNV T159M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.296 229019 chr5 34863080 34863080 A G rs35769440 TTC23L Nonsynonymous SNV N162D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 229020 chr16 19085283 19085283 A G rs184471591 COQ7 Nonsynonymous SNV N60S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.172 229021 chr5 35876524 35876524 C G rs148931962 IL7R Nonsynonymous SNV T439S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.959 229022 chr21 44450037 44450037 C T rs367682347 PKNOX1 Synonymous SNV N262N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.02 229023 chr16 2051089 2051089 G A rs576212579 ZNF598 Nonsynonymous SNV P373S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.019 229024 chr5 41005008 41005008 T C MROH2B Synonymous SNV P1293P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.045 229025 chr10 126448981 126448981 C T EEF1AKMT2 Nonsynonymous SNV M158I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 229026 chr6 135360773 135360773 T C HBS1L Nonsynonymous SNV D81G 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 229027 chr10 126523262 126523262 C T rs752407314 ABRAXAS2 Nonsynonymous SNV R324C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 229028 chr10 126523296 126523296 A C rs373282824 ABRAXAS2 Nonsynonymous SNV Q335P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 229029 chr5 434123 434123 C T rs770793264 AHRR Nonsynonymous SNV P427L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.687 229030 chr21 45924665 45924665 G A rs587663747 TSPEAR Synonymous SNV Y618Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.64 229031 chr5 475041 475041 G A SLC9A3 Nonsynonymous SNV P811S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.219 229032 chr21 46950864 46950864 G A rs200647386 SLC19A1 Nonsynonymous SNV A284V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 229033 chr4 80329070 80329070 T G GK2 Nonsynonymous SNV E95D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 229034 chr4 80329071 80329071 T G GK2 Nonsynonymous SNV E95A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 229035 chr22 18374328 18374328 G A rs199659825 MICAL3 Synonymous SNV N539N 0.002 0.008 0 0 2 3 0 0 0 0 0 0 11.87 229036 chr1 90152042 90152042 G A rs751573376 LRRC8C Nonsynonymous SNV V4M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 229037 chr16 3026940 3026940 C T rs780893716 PKMYT1 Nonsynonymous SNV A26T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 229038 chr5 73045761 73045761 A G rs200289106 ARHGEF28 Nonsynonymous SNV M45V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 229039 chr5 74892942 74892942 A G rs774246488 POLK Synonymous SNV Q742Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.334 229040 chr1 93987687 93987687 G A rs199520245 FNBP1L Synonymous SNV E63E 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.92 229041 chr6 155743853 155743853 G A rs950994262 NOX3 Nonsynonymous SNV A428V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 229042 chr5 79855346 79855346 G T rs150879351 ANKRD34B Nonsynonymous SNV Q165K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 229043 chr22 24891453 24891453 G A rs141896929 UPB1 Nonsynonymous SNV V28I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.587 229044 chr9 19324405 19324405 T G rs745949702 DENND4C Nonsynonymous SNV L618R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.33 229045 chr5 87963197 87963197 A - rs147719390 LINC00461 0 0 0.02 0 0 0 0 6 0 0 0 0 229046 chr5 93076440 93076440 A G rs747828510 POU5F2 Nonsynonymous SNV I277T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 229047 chr22 28194933 28194933 T C rs45480998 MN1 Synonymous SNV Q533Q 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.001 229048 chr22 29709524 29709524 C T RASL10A Synonymous SNV V126V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 229049 chr10 106152086 106152086 A T CFAP58 Nonsynonymous SNV Q487H 0 0.005 0 0 0 2 0 0 0 0 0 0 24.2 229050 chr1 115276661 115276661 T C CSDE1 Synonymous SNV L189L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.644 229051 chr1 116244010 116244010 T C rs200899037 CASQ2 Nonsynonymous SNV D351G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 229052 chr5 128994428 128994428 C G rs768067850 ADAMTS19 Nonsynonymous SNV A808G 0 0 0 2 0 0 0.005 0 0 0 0 0 24 229053 chr1 145492366 145492366 A G LIX1L Synonymous SNV A196A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 229054 chr22 32788248 32788248 T A rs13110 RTCB Synonymous SNV S463S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 229055 chr22 32795626 32795626 T C rs57526188 RTCB Synonymous SNV K206K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.155 229056 chr22 32802680 32802680 A G rs35003092 RTCB Synonymous SNV D103D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.57 229057 chr5 131052285 131052285 C T rs138285216 FNIP1 Nonsynonymous SNV V154I 0 0 0.003 3 0 0 0.008 1 0 0 0 0 16.36 229058 chr22 32831837 32831837 C T rs146292752 BPIFC Nonsynonymous SNV D260N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 229059 chr1 146751846 146751846 A G rs782126374 CHD1L Nonsynonymous SNV R359G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.23 229060 chr10 118451866 118451866 T G HSPA12A Nonsynonymous SNV Y220S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 229061 chr16 66948139 66948139 A G rs775588031 CDH16 Nonsynonymous SNV Y157H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.3 229062 chr16 67236417 67236417 C T ELMO3 Nonsynonymous SNV T460I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.7 229063 chr1 151107660 151107660 G A rs148525450 SEMA6C Nonsynonymous SNV A480V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 229064 chr6 125230092 125230092 T C rs529004988 RNF217-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.689 229065 chr10 55570399 55570399 G A rs371717912 PCDH15 Nonsynonymous SNV R1465C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 229066 chr6 125230110 125230110 T C rs548959267 RNF217-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.968 229067 chr22 38934374 38934374 C A DMC1 Nonsynonymous SNV S179I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 229068 chr6 131540870 131540870 T A rs200644883 AKAP7 Nonsynonymous SNV Y258N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 229069 chr6 133769311 133769311 G T EYA4 Nonsynonymous SNV A91S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 229070 chr22 42296337 42296337 C T rs774978975 SREBF2 Synonymous SNV S914S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 229071 chr16 72984722 72984722 C T rs755083262 ZFHX3 Synonymous SNV T40T 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 15.09 229072 chr6 138642291 138642291 C T rs754438695 ARFGEF3 Synonymous SNV L1565L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.912 229073 chr5 140780066 140780066 G A PCDHGB5 Nonsynonymous SNV S791N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.8 229074 chr5 140798080 140798080 G T rs377653202 PCDHGB7 Synonymous SNV G218G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.033 229075 chr5 140801055 140801055 G C PCDHGA11 Synonymous SNV T87T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.208 229076 chr22 44083432 44083432 T C rs369021857 EFCAB6 Nonsynonymous SNV N202S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.648 229077 chr16 783400 783400 C T rs144124774 CIAO3 Nonsynonymous SNV V241I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.18 229078 chr10 73537481 73537481 C T rs377519065 CDH23 Synonymous SNV N1630N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 7.184 229079 chr10 75013675 75013675 - T DNAJC9-AS1 0.003 0 0 1 4 0 0.003 0 0 0 0 0 229080 chr10 75532730 75532730 T G rs755234385 FUT11 Stop gain Y213X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 229081 chr6 152725360 152725360 C T rs138911730 SYNE1 Synonymous SNV P2278P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.03 229082 chr1 160313257 160313257 G A rs530941300 NCSTN Nonsynonymous SNV C24Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 229083 chr5 149435632 149435632 G A rs758314616 CSF1R Synonymous SNV D837D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 229084 chr6 158492751 158492751 G T rs114458065 SYNJ2 Synonymous SNV L449L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.16 229085 chr10 79686034 79686034 A C DLG5 Nonsynonymous SNV L82R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.3 229086 chr22 51144512 51144512 C G SHANK3 Nonsynonymous SNV P742R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 229087 chr10 81701236 81701236 T C rs114100256 SFTPD Synonymous SNV P195P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.943 229088 chr10 20357116 20357116 C T rs7912840 PLXDC2 Synonymous SNV F114F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.97 229089 chr6 160113501 160113501 C A SOD2 Nonsynonymous SNV V140F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.563 229090 chr16 86602052 86602052 G A FOXC2 Nonsynonymous SNV A371T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.144 229091 chr1 169694916 169694916 C T rs373765962 SELE Nonsynonymous SNV G601E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 229092 chr10 88853704 88853704 A C rs755199262 GLUD1 Nonsynonymous SNV V11G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.362 229093 chrX 46322646 46322646 G A rs150462512 KRBOX4 Synonymous SNV A52A 0 0.005 0 0 0 2 0 0 0 0 0 0 8.791 229094 chr5 156712440 156712440 C T rs752822676 CYFIP2 Synonymous SNV P23P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.82 229095 chr10 94836955 94836955 G A rs774387193 CYP26A1 Nonsynonymous SNV C463Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 229096 chr6 170169780 170169780 G A rs571271480 ERMARD Nonsynonymous SNV V276I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 229097 chrX 153219845 153219845 G A HCFC1 Synonymous SNV T1335T 0.001 0.005 0 0 1 2 0 0 0 1 0 0 1.914 229098 chr10 96609795 96609795 A G rs766739784 CYP2C19 Nonsynonymous SNV Y424C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 229099 chr5 167849100 167849100 A G rs374942942 WWC1 Synonymous SNV K424K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.916 229100 chr1 177001621 177001621 T C rs774078717 ASTN1 Nonsynonymous SNV N279S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 229101 chrX 153578198 153578198 C T rs782747934 FLNA Synonymous SNV A2449A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 11.32 229102 chr6 55739268 55739268 C T BMP5 Synonymous SNV T132T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 229103 chr16 89350577 89350577 C T rs138267414 ANKRD11 Synonymous SNV K791K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.607 229104 chr5 175992392 175992392 C T rs151045084 CDHR2 Synonymous SNV A13A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.462 229105 chr5 176011468 176011468 G A rs199744196 CDHR2 Nonsynonymous SNV R729H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 229106 chr17 10265541 10265541 C T rs772143298 MYH13 Synonymous SNV P133P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.184 229107 chr5 176638797 176638797 A G rs886060441 NSD1 Nonsynonymous SNV K1133E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.215 229108 chr11 100846832 100846832 A G rs1042246990 ARHGAP42 Nonsynonymous SNV I634V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.686 229109 chrX 100242470 100242470 G T rs199879177 ARL13A Nonsynonymous SNV C193F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 229110 chr1 186010178 186010178 A G HMCN1 Nonsynonymous SNV S2072G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 229111 chr5 178035455 178035455 T A rs35272416 CLK4 Nonsynonymous SNV L352F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.5 229112 chr1 186106733 186106733 C G rs780809105 HMCN1 Synonymous SNV A4562A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.97 229113 chr6 79711803 79711803 T G rs781578453 PHIP Synonymous SNV P564P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.054 229114 chr17 15406467 15406467 G A rs140682517 TVP23C Nonsynonymous SNV A181V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.91 229115 chr5 179251277 179251279 TCC - rs747274001 SQSTM1 P211del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 229116 chr1 202129898 202129898 C A rs377709499 PTPN7 Nonsynonymous SNV G13V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 229117 chr6 36343727 36343727 C T rs149881845 ETV7 Nonsynonymous SNV G4R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 229118 chr5 36241836 36241836 G T NADK2 Nonsynonymous SNV A22E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.2 229119 chr6 41565582 41565582 G A rs141279563 FOXP4 Nonsynonymous SNV A597T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 16.29 229120 chr11 104912339 104912339 A T rs61754511 CARD16 Nonsynonymous SNV L128M 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 4.389 229121 chr17 2187015 2187015 G A rs142112792 SMG6 Synonymous SNV D784D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.82 229122 chr6 42797817 42797817 T C BICRAL Synonymous SNV S582S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 229123 chr17 2598568 2598568 C T rs370270067 CLUH Nonsynonymous SNV G851S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.2 229124 chr10 74828736 74828736 T C rs143139888 P4HA1 Nonsynonymous SNV I111V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 17.11 229125 chr10 75135899 75135899 G A rs150742908 ANXA7 Nonsynonymous SNV T412M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 33 229126 chr10 75519912 75519912 C T rs141529584 SEC24C Synonymous SNV A206A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 14.22 229127 chr11 113295296 113295296 G A rs200272626 DRD2 Synonymous SNV D26D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.915 229128 chr1 213224842 213224842 C T rs1056528953 RPS6KC1 Synonymous SNV V32V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 229129 chr6 47254252 47254252 C T rs765519597 TNFRSF21 Nonsynonymous SNV R59H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 229130 chr10 7755234 7755234 G A rs141925309 ITIH2 Synonymous SNV T151T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.821 229131 chr17 30538147 30538147 A T RHOT1 Nonsynonymous SNV L584F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.28 229132 chr6 51523917 51523917 C T rs142855690 PKHD1 Synonymous SNV S3669S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.69 229133 chr10 88419700 88419700 G T rs145634412 OPN4 Nonsynonymous SNV W283C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.8 229134 chr17 34937916 34937916 A T rs769374057 GGNBP2 Nonsynonymous SNV D388V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 229135 chr1 9783300 9783300 C T rs144576067 PIK3CD Synonymous SNV A819A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.28 229136 chr1 11150673 11150673 G A rs746223864 EXOSC10 Synonymous SNV D232D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 229137 chr17 3619993 3619993 T C rs151074270 ITGAE Nonsynonymous SNV I1145V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.686 229138 chr17 3628239 3628239 G C rs140396274 HASPIN Nonsynonymous SNV S337T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.024 229139 chr10 95993931 95993931 A T rs147203844 PLCE1 Synonymous SNV T384T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.002 229140 chr2 210714234 210714234 G A rs201318495 UNC80 Nonsynonymous SNV V1172M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 229141 chr17 3728315 3728315 C T rs218719 NCBP3 Synonymous SNV E239E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.95 229142 chr6 74496994 74496994 T G rs79433097 CD109 Nonsynonymous SNV I715S 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 229143 chr6 76602402 76602402 G C rs775169264 MYO6 Synonymous SNV L1034L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.044 229144 chr6 8064583 8064583 A T rs368860770 BLOC1S5 Synonymous SNV P9P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.833 229145 chr1 16058475 16058475 C T PLEKHM2 Synonymous SNV L853L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.92 229146 chr7 129912971 129912971 T C rs1033234221 CPA2 Nonsynonymous SNV V147A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 229147 chr2 202737029 202737029 C A CDK15 Nonsynonymous SNV S346R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.84 229148 chr1 17322972 17322972 C T rs763507619 ATP13A2 Synonymous SNV G400G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.72 229149 chr6 97562259 97562259 C T rs141921333 KLHL32 Nonsynonymous SNV R274C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 229150 chr1 19549251 19549251 G A rs141218180 EMC1 Synonymous SNV N796N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.945 229151 chr11 126318939 126318939 C T KIRREL3 Nonsynonymous SNV G321D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 229152 chr1 247614645 247614645 G A rs138984792 OR2B11 Nonsynonymous SNV P214S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 229153 chr1 20971155 20971155 G A rs200949139 PINK1 Nonsynonymous SNV V317I 0 0 0 2 0 0 0.005 0 0 0 0 0 33 229154 chr1 21890632 21890632 G A rs121918007 ALPL Nonsynonymous SNV E114K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Pathogenic/Likely pathogenic 29.2 229155 chr6 10764813 10764813 G A rs199594233 MAK Nonsynonymous SNV R542W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.2 229156 chr1 23380286 23380286 G A rs759831302 KDM1A Synonymous SNV Q228Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.72 229157 chr1 248028122 248028122 C T rs144144752 TRIM58 Nonsynonymous SNV T211M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 229158 chr1 23885795 23885795 C G rs142720912 ID3 Synonymous SNV L41L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.14 229159 chr17 41368743 41368743 C T rs768889319 TMEM106A Nonsynonymous SNV R153W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.21 229160 chr7 100694949 100694949 G A rs775538912 MUC17 Synonymous SNV Q4310Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.903 229161 chr7 102585016 102585016 G A rs764007775 LRRC17 Nonsynonymous SNV A430T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 229162 chr11 114401627 114401627 A - rs746763195 NXPE1 W35Gfs*4 0 0.005 0 0 0 2 0 0 0 0 0 0 229163 chr6 142400029 142400029 A G rs747163063 NMBR Nonsynonymous SNV I145T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.3 229164 chr11 118220540 118220540 A C rs377057336 CD3G Synonymous SNV T54T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 229165 chr1 33799805 33799805 G A rs1027333109 PHC2 Synonymous SNV A13A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.58 229166 chr10 5815860 5815860 A T rs761818808 GDI2 Nonsynonymous SNV I210N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 229167 chr7 11676110 11676110 C A THSD7A Synonymous SNV A223A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 229168 chr6 148865606 148865606 C T rs777837295 SASH1 Synonymous SNV L761L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.208 229169 chr1 36826908 36826908 C T rs199672018 STK40 Nonsynonymous SNV G9E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 229170 chr1 38155488 38155488 T C rs148859861 C1orf109 Nonsynonymous SNV E84G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 229171 chr2 24345305 24345305 G A rs747162835 PFN4 Nonsynonymous SNV A34V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 229172 chr17 526800 526800 G A rs61099969 VPS53 Synonymous SNV S334S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 13.44 229173 chr11 31811464 31811464 T - PAX6 K244Rfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 229174 chr1 38330042 38330042 C T rs761321485 INPP5B Synonymous SNV A692A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.96 229175 chr7 127361430 127361430 G A rs750167911 SND1 Synonymous SNV P376P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.146 229176 chr2 27480847 27480847 C A SLC30A3 Synonymous SNV L155L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 229177 chr17 57058177 57058177 C T rs150938883 PPM1E Nonsynonymous SNV P685S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 22.9 229178 chr11 377166 377166 C T B4GALNT4 Synonymous SNV D681D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 229179 chr1 44605708 44605708 C A rs143070808 KLF18 Nonsynonymous SNV M532I 0 0 0 3 0 0 0.008 0 0 0 0 0 2.932 229180 chr2 32640173 32640173 A G rs146405716 BIRC6 Nonsynonymous SNV Q605R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 229181 chr2 33518295 33518295 A G rs576251562 LTBP1 Nonsynonymous SNV M735V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.38 229182 chr6 160670319 160670319 G A rs147817271 SLC22A2 Synonymous SNV Y257Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.182 229183 chr7 141844721 141844721 T C rs559628362 MGAM2 Synonymous SNV L498L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.22 229184 chr2 42557239 42557239 C T rs141197930 EML4 Synonymous SNV S888S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 229185 chr17 66881456 66881456 C T rs143548476 ABCA8 Nonsynonymous SNV V1104I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.106 229186 chr1 53559144 53559144 C A SLC1A7 Synonymous SNV A190A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 229187 chr17 71165932 71165932 G A rs371381814 SSTR2 Synonymous SNV T158T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.599 229188 chr7 149129476 149129476 G A rs377235647 ZNF777 Synonymous SNV G629G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.448 229189 chr1 55224194 55224194 G C PARS2 Nonsynonymous SNV S214C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 229190 chr7 149490509 149490509 C T rs200294984 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 8.062 229191 chr1 57333360 57333360 G A rs202216337 C8A Synonymous SNV P52P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.95 229192 chr7 150068383 150068383 G A rs369321053 REPIN1 Nonsynonymous SNV R18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 229193 chr6 170871047 170871070 CAGCAGCAGCAGCAGCAGCAGCAG - TBP Q68_Q75del 0.004 0 0 3 5 0 0.008 0 0 0 0 0 229194 chr7 150935384 150935384 C G CHPF2 Nonsynonymous SNV P646A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 229195 chr7 155532469 155532510 CAGCCCCCGCCACAGCACCAGCCTCCGCACCAGCCCCCGCAC - RBM33 H609_P622del 0 0 0.003 0 0 0 0 1 0 0 0 0 229196 chr1 74667050 74667050 A G rs554642678 FPGT, FPGT-TNNI3K Nonsynonymous SNV Y113C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 229197 chr1 82456107 82456107 G C rs72719419 ADGRL2 Nonsynonymous SNV A1164P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 229198 chr7 86811652 86811652 A G rs902561580 DMTF1 Synonymous SNV T185T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 229199 chr1 85537681 85537681 A G rs373932758 WDR63 Synonymous SNV V19V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.76 229200 chr1 85589819 85589819 G T rs755832945 WDR63 Nonsynonymous SNV S627I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.174 229201 chr6 33657894 33657894 C T rs147985768 ITPR3 Synonymous SNV D2317D 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 13.14 229202 chr11 101833008 101833008 A G rs373938848 CEP126 Synonymous SNV T414T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 229203 chr11 101937316 101937316 T C rs372973997 CFAP300 Synonymous SNV S123S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.839 229204 chr2 97369980 97369980 C A rs377065295 FER1L5 Synonymous SNV R1944R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.378 229205 chr11 32954724 32954724 G A rs372947649 QSER1 Synonymous SNV Q640Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.254 229206 chr2 98422079 98422079 C A rs200043262 TMEM131 Nonsynonymous SNV V715L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.66 229207 chr6 37616808 37616808 C A rs1005643073 MDGA1 Nonsynonymous SNV C615F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 229208 chr7 31692358 31692360 CTT - rs758619091 ITPRID1 S1020del 0 0 0.003 0 0 0 0 1 0 0 0 0 229209 chr11 104822726 104822726 G A rs370992892 CASP4 Nonsynonymous SNV P90L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 229210 chr17 7910798 7910798 C T rs779132852 GUCY2D Synonymous SNV T506T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.73 229211 chr7 44104567 44104567 G A rs143809043 PGAM2 Synonymous SNV C153C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.28 229212 chr7 44153697 44153720 TGGAGCCCGAGTTTGAGACCCAGT - rs773774440 AEBP1 T1119_E1126del 0 0 0.003 0 0 0 0 1 0 0 0 0 229213 chr7 45662327 45662327 C T rs143472730 ADCY1 Synonymous SNV F335F 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 16.46 229214 chr2 113993077 113993077 G A rs552812059 PAX8 Nonsynonymous SNV P301L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.79 229215 chr17 80333178 80333178 G A rs530213170 UTS2R Synonymous SNV L326L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.897 229216 chr7 5104384 5104384 G A rs761910993 RBAK Nonsynonymous SNV E433K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 229217 chr2 131096697 131096697 G A rs140831651 CCDC115 Nonsynonymous SNV A175V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 229218 chr7 72850020 72850020 C T rs115751996 FZD9 Synonymous SNV Y561Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.34 229219 chr7 73115064 73115064 C T rs202064998 STX1A Nonsynonymous SNV A247T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 229220 chr7 76828632 76828632 T C rs756621142 FGL2 Nonsynonymous SNV K160R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 229221 chr2 157435677 157435677 G A GPD2 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 229222 chr1 150444574 150444574 C T rs780844562 RPRD2 Synonymous SNV T1024T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.221 229223 chr7 76959676 76959676 G A GSAP Synonymous SNV S303S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 229224 chr1 150526134 150526134 A T rs147803174 ADAMTSL4 Nonsynonymous SNV T223S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 229225 chr18 2922056 2922056 G A rs145270447 LPIN2 Synonymous SNV S772S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.84 229226 chr2 168106976 168106976 C T rs749218918 XIRP2 Nonsynonymous SNV S2803F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.348 229227 chr18 3168943 3168943 T G MYOM1 Nonsynonymous SNV E404A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 229228 chr7 91793414 91793414 A T LRRD1 Nonsynonymous SNV I368N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 229229 chr1 153580610 153580610 C T rs527930830 S100A16 Synonymous SNV T6T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.9 229230 chr11 60497152 60497152 C T rs76194929 MS4A18 Nonsynonymous SNV P122S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 229231 chr6 88854286 88854286 C T rs577054667 CNR1 Synonymous SNV A236A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.605 229232 chr7 98895579 98895579 G A rs186263161 MYH16 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 229233 chr11 60714198 60714198 C T rs749670306 SLC15A3 Synonymous SNV A218A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.05 229234 chr1 155161724 155161724 C T rs762050210 MUC1 Nonsynonymous SNV G137S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 229235 chr8 100990159 100990159 C T rs368573670 RGS22 Nonsynonymous SNV E988K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 229236 chr11 61081645 61081645 T C rs780477242 DDB1 Nonsynonymous SNV I543V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 229237 chr8 105503667 105503667 C T rs375217183 LRP12 Nonsynonymous SNV R586H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 229238 chr2 179599440 179599440 T C rs777480345 TTN Nonsynonymous SNV I3827V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.678 229239 chr11 62455885 62455885 C T rs138082938 LRRN4CL Synonymous SNV E32E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.25 229240 chr11 62760925 62760925 C A SLC22A8 Nonsynonymous SNV L377F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 229241 chr11 17632254 17632254 C T OTOG Nonsynonymous SNV P1815S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 229242 chr1 158653206 158653206 C T rs200343758 SPTA1 Synonymous SNV R115R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.929 229243 chr3 128126968 128126968 C T rs375322409 EEFSEC Nonsynonymous SNV R553W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 229244 chr11 64052185 64052185 A - rs748056064 GPR137 N37Tfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 229245 chr1 159799909 159799909 C T rs113551009 SLAMF8 Synonymous SNV S98S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.46 229246 chr11 64375394 64375394 C T NRXN2 Synonymous SNV P425P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 229247 chr1 162344056 162344056 G A rs373299557 SPATA46 Nonsynonymous SNV R190C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 229248 chr8 133141666 133141666 T C rs118192254 KCNQ3 Nonsynonymous SNV N701S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 229249 chr2 190339044 190339044 C T rs776626331 WDR75 Nonsynonymous SNV P728S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 229250 chr2 202899591 202899591 C G rs547303593 FZD7 Nonsynonymous SNV T74R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.44 229251 chr2 203421236 203421236 G C BMPR2 Nonsynonymous SNV D950H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 229252 chr7 103183217 103183217 C T rs374088118 RELN Nonsynonymous SNV R2211H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 35 229253 chr8 144660034 144660034 G A NAPRT Synonymous SNV S102S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.47 229254 chr11 67810298 67810298 G A rs1052401866 TCIRG1 Nonsynonymous SNV A129T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.807 229255 chr19 10943889 10943889 C T TMED1 Nonsynonymous SNV E156K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 229256 chr1 186026415 186026415 G A rs746013470 HMCN1 Synonymous SNV V2398V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 229257 chr7 117251649 117251649 T G rs150212784 CFTR Nonsynonymous SNV F1052V 0 0 0.01 2 0 0 0.005 3 0 0 0 0 drug response 31 229258 chr3 151154872 151154872 T C rs147096769 IGSF10 Nonsynonymous SNV I520V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.4 229259 chr7 123303052 123303052 G A rs61745020 LMOD2 Nonsynonymous SNV R471Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.67 229260 chr19 12807315 12807315 G T rs151118454 FBXW9 Nonsynonymous SNV D27E 0.004 0 0.003 3 5 0 0.008 1 0 0 0 0 25.5 229261 chr1 201012596 201012596 C T rs756066219 CACNA1S Nonsynonymous SNV V1621I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.02 229262 chr3 16216952 16216952 C T rs11923725 GALNT15 Synonymous SNV A98A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.77 229263 chr8 145750017 145750017 G A rs926639009 LRRC24 Synonymous SNV H82H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.563 229264 chr8 1808270 1808270 C T rs151080025 ARHGEF10 Nonsynonymous SNV A134V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 229265 chr19 15221486 15221486 C T rs373972188 SYDE1 Synonymous SNV P343P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.98 229266 chr19 16640639 16640639 G A rs183319111 CHERP Nonsynonymous SNV L317F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 229267 chr3 18391052 18391052 T C rs61733672 SATB1 Synonymous SNV P562P 0 0 0.003 4 0 0 0.01 1 0 0 0 0 0.029 229268 chr19 17394113 17394113 G A rs373723762 ANKLE1 Synonymous SNV R169R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.225 229269 chr1 212799470 212799470 T C rs146602855 FAM71A Synonymous SNV A417A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.534 229270 chr7 142637630 142637630 C T rs551888986 LLCFC1 Nonsynonymous SNV R134W 0 0 0 2 0 0 0.005 0 0 0 0 0 19.65 229271 chr11 8734140 8734140 C T rs112354780 DENND2B Synonymous SNV S290S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.63 229272 chr1 216251507 216251507 C T rs146585940 USH2A Synonymous SNV V1832V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.74 229273 chr8 31024727 31024727 A G WRN Nonsynonymous SNV E1391G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 229274 chr9 112963321 112963321 C - C9orf152 R209Sfs*69 0.003 0 0 0 3 0 0 0 0 0 0 0 229275 chr11 93796747 93796747 C T rs779255939 HEPHL1 Synonymous SNV T163T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 229276 chr19 20727617 20727617 C T rs143567096 ZNF737 Synonymous SNV S464S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.48 229277 chr2 237253266 237253266 G A rs181962483 IQCA1 Synonymous SNV P589P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 229278 chr11 94759726 94759726 C T rs76354273 KDM4E Synonymous SNV H335H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.755 229279 chr2 238283472 238283472 T G rs11896521 COL6A3 Nonsynonymous SNV K481Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.96 229280 chr2 238287288 238287288 C A rs77181645 COL6A3 Nonsynonymous SNV A423S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.32 229281 chr2 238287357 238287357 C T rs113155945 COL6A3 Nonsynonymous SNV A400T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.37 229282 chr1 226923706 226923706 G A rs766298121 ITPKB Nonsynonymous SNV A485V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 229283 chr7 150554484 150554484 G C rs200005221 AOC1 Nonsynonymous SNV R309P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 26.5 229284 chr8 56708566 56708566 G T rs570318131 TGS1 Nonsynonymous SNV R373L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 229285 chr8 61777712 61777712 G A rs199570256 CHD7 Synonymous SNV T689T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.09 229286 chr1 231557467 231557467 G A rs750205790 EGLN1 Synonymous SNV L56L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 229287 chr7 1586617 1586617 G A rs200106285 TMEM184A Nonsynonymous SNV R405W 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 23.9 229288 chr2 242684260 242684260 C T rs781751387 D2HGDH Nonsynonymous SNV P140L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.2 229289 chr19 33701385 33701385 G A SLC7A10 Synonymous SNV H417H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.918 229290 chr11 73022534 73022534 C T rs113911296 ARHGEF17 Nonsynonymous SNV R951W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 229291 chr3 8578934 8578934 C T rs35113439 LMCD1 Synonymous SNV D65D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 229292 chr11 76507643 76507643 G C rs890129397 TSKU Nonsynonymous SNV R328T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.99 229293 chr8 98736854 98736854 C T rs929674164 MTDH Nonsynonymous SNV P514S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 229294 chr7 27213228 27213228 G A rs201915532 HOXA10 Nonsynonymous SNV A233V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.16 229295 chr9 101797345 101797345 A T COL15A1 Nonsynonymous SNV Q710L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.8 229296 chr3 18427972 18427972 G A rs780193373 SATB1 Synonymous SNV D374D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.607 229297 chr9 114365282 114365282 C T rs763762258 LRRC37A5P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.483 229298 chr4 90856410 90856410 T C rs531141286 MMRN1 Nonsynonymous SNV S527P 0 0.008 0 0 0 3 0 0 0 0 0 0 0.042 229299 chr19 3852583 3852583 A T rs201408938 ZFR2 Nonsynonymous SNV L28H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.454 229300 chr4 96025667 96025667 G A rs200035802 BMPR1B Nonsynonymous SNV R31H 0 0.008 0 0 0 3 0 0 0 0 0 0 Benign 21.1 229301 chr12 133697947 133697947 C T ZNF891 Synonymous SNV E186E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.337 229302 chr2 20870838 20870838 G T GDF7 Nonsynonymous SNV G336C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 229303 chr2 20870839 20870839 G T GDF7 Nonsynonymous SNV G336V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 229304 chr9 125861814 125861814 A G RABGAP1 Nonsynonymous SNV I959V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.97 229305 chr12 20874926 20874926 C A rs1041020324 SLCO1C1 Nonsynonymous SNV H204N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 229306 chr9 140147920 140147920 C T STPG3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.271 229307 chr9 128069737 128069737 G A rs778163868 GAPVD1 Nonsynonymous SNV V388M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 229308 chr12 108920122 108920122 G C SART3 Synonymous SNV V708V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.938 229309 chr2 27438350 27438350 A G ATRAID Nonsynonymous SNV Q101R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 229310 chr12 111311658 111311658 - A rs778868812 CCDC63 Frameshift insertion I52Nfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 229311 chr19 44832913 44832913 T A rs771730790 ZNF112 Nonsynonymous SNV K405I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.68 229312 chr9 132903788 132903788 G A rs201398559 GPRACR 0 0 0.003 0 0 0 0 1 0 0 0 0 1.132 229313 chr9 134183459 134183459 T A PLPP7 Nonsynonymous SNV S201T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 229314 chr2 38177494 38177494 T G rs568797413 RMDN2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 1.872 229315 chr9 136320574 136320574 G T rs782724202 ADAMTS13 Synonymous SNV V1139V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.442 229316 chr19 46281018 46281018 C A rs754630789 DMPK Synonymous SNV A174A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.8 229317 chr9 136915655 136915655 G A rs61733941 BRD3 Synonymous SNV S185S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 229318 chr12 121712161 121712161 C T rs201430481 CAMKK2 Nonsynonymous SNV E57K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 229319 chr19 46800338 46800338 C T HIF3A Nonsynonymous SNV A2V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.3 229320 chr7 94915580 94915580 A T rs1009773986 PPP1R9A Nonsynonymous SNV L940F 0 0 0 2 0 0 0.005 0 0 0 0 0 19.65 229321 chr9 140250769 140250769 C T rs369860371 EXD3 Synonymous SNV A236A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 229322 chr3 97593782 97593782 A G CRYBG3 Synonymous SNV P1248P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.052 229323 chr2 72359386 72359386 C A rs202200784 CYP26B1 Nonsynonymous SNV E428D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 229324 chr19 50393212 50393212 A G IL4I1 Synonymous SNV Y473Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.658 229325 chr12 18891687 18891687 C A rs145563800 CAPZA3 Nonsynonymous SNV T162K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.51 229326 chr9 712382 712382 G C rs202212356 KANK1 Nonsynonymous SNV G381A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 229327 chr9 71992355 71992355 C T rs143765985 FAM189A2 Nonsynonymous SNV R108C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 229328 chr12 56998559 56998559 C T rs201075316 BAZ2A Nonsynonymous SNV V925M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.3 229329 chr9 77377843 77377843 T G rs371871373 TRPM6 Nonsynonymous SNV K1243N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 229330 chr2 101624596 101624596 G A rs752796494 TBC1D8 Nonsynonymous SNV S1037F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 229331 chr8 143623561 143623561 C T rs369644974 ADGRB1 Synonymous SNV D1322D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.73 229332 chr12 46765020 46765020 G A SLC38A2 Synonymous SNV S19S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.74 229333 chr19 5455809 5455809 G A rs374979065 ZNRF4 Nonsynonymous SNV V103M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.127 229334 chr8 144801224 144801224 G A rs782145185 MAPK15 Nonsynonymous SNV R160H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.2 229335 chr19 54649672 54649672 C G rs769899630 CNOT3 Nonsynonymous SNV P244A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.728 229336 chr12 50136027 50136027 C T rs752987462 TMBIM6 Synonymous SNV G36G 0.002 0.005 0 0 2 2 0 0 0 1 0 0 14.03 229337 chrX 153657458 153657458 A G rs74526112 ATP6AP1 Nonsynonymous SNV T76A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.328 229338 chrUn_gl000220 124803 124803 A G LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 229339 chr8 145006338 145006338 C G PLEC Nonsynonymous SNV R667P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25 229340 chr2 133540148 133540148 G A rs201604728 NCKAP5 Synonymous SNV R1412R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 229341 chr2 133542508 133542508 A G rs201000665 NCKAP5 Nonsynonymous SNV S626P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.962 229342 chr3 134322975 134322975 C T rs780346117 KY Nonsynonymous SNV G462R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 229343 chr19 5591797 5591797 C T rs529098214 SAFB2 Nonsynonymous SNV G786S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.1 229344 chr2 141113965 141113965 A G LRP1B Nonsynonymous SNV F3826L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.78 229345 chr8 145734786 145734786 G A rs750505146 MFSD3 Nonsynonymous SNV G24S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.63 229346 chr12 81111289 81111289 G T rs141800220 MYF5 Synonymous SNV P149P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 229347 chr2 149247043 149247043 C T rs145475623 MBD5 Nonsynonymous SNV T1048I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17 229348 chrX 132160273 132160273 G A rs145695346 USP26 Nonsynonymous SNV T659M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.078 229349 chr3 142103423 142103423 C T rs146549582 XRN1 Nonsynonymous SNV R815H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 229350 chr12 88533333 88533333 A G rs996908777 CEP290 Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.858 229351 chr2 152520209 152520209 C T rs368371414 NEB Synonymous SNV P1872P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 229352 chr3 142389909 142389909 T G rs148556280 PLS1 Synonymous SNV T103T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 229353 chr8 17163275 17163275 C T rs781567821 MTMR7 Nonsynonymous SNV R448Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.83 229354 chr12 53896883 53896883 G A rs1029867627 TARBP2 Nonsynonymous SNV S78N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.893 229355 chrX 14027089 14027089 G A rs145493823 GEMIN8 Synonymous SNV D224D 0 0 0.007 0 0 0 0 2 0 0 0 0 6.564 229356 chr12 93196194 93196194 C T rs145270378 EEA1 Nonsynonymous SNV A886T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 229357 chrX 151092191 151092191 C G rs147367105 MAGEA4 Nonsynonymous SNV Q19E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 229358 chr3 155199509 155199509 G T PLCH1 Nonsynonymous SNV H1436N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.475 229359 chr12 98987790 98987790 A C SLC25A3 Nonsynonymous SNV N12H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.6 229360 chrX 153591145 153591145 A G FLNA Nonsynonymous SNV V763A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 229361 chrX 153699622 153699622 C T rs199507126 PLXNA3 Synonymous SNV Y1777Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 229362 chrX 18942243 18942243 C T rs757718008 PHKA2 Nonsynonymous SNV G575D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 229363 chrX 23398013 23398013 C T rs144982584 PTCHD1 Synonymous SNV N219N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.082 229364 chr3 172016572 172016572 T C rs200343938 FNDC3B Synonymous SNV H352H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.912 229365 chr8 24181516 24181516 C T rs182434720 ADAM28 Nonsynonymous SNV T297I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 229366 chr1 1231433 1231433 C T ACAP3 Synonymous SNV E488E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.207 229367 chr12 129467603 129467603 A C GLT1D1 Nonsynonymous SNV I201L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.204 229368 chr1 1325896 1325896 A G CCNL2 Synonymous SNV T47T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 229369 chr12 130926499 130926499 G C RIMBP2 Synonymous SNV A449A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.836 229370 chrX 44950061 44950061 T C rs770933595 KDM6A Nonsynonymous SNV M1198T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 229371 chrX 47072555 47072555 A G rs782120956 UBA1 Nonsynonymous SNV E938G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 229372 chr8 27310672 27310672 G A rs753976890 PTK2B Nonsynonymous SNV A822T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.74 229373 chr5 126770432 126770432 G A rs561610841 MEGF10 Nonsynonymous SNV V632I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.7 229374 chr19 621289 621289 G A rs573161095 POLRMT Synonymous SNV R803R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.63 229375 chr2 176996334 176996334 A T rs191736932 HOXD8 Synonymous SNV T288T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 229376 chr3 183823927 183823927 G A rs765687998 HTR3E Nonsynonymous SNV A339T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 229377 chrX 48340102 48340102 C T rs141084617 FTSJ1 Synonymous SNV Y81Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.553 229378 chr2 179404549 179404549 C T rs397517775 TTN Nonsynonymous SNV R23683H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 229379 chrX 49022516 49022516 G A rs368516817 MAGIX Synonymous SNV T185T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.379 229380 chr2 179444687 179444687 G A TTN Nonsynonymous SNV R13378C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 229381 chr3 184588523 184588523 A G VPS8 Nonsynonymous SNV H542R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 229382 chr8 30717534 30717534 C A TEX15 Nonsynonymous SNV D194Y 0 0 0 1 0 0 0.003 0 0 0 0 0 16.6 229383 chrX 64770898 64770898 G A rs746509 FRMD8P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.659 229384 chr13 21013744 21013744 G A rs139115740 CRYL1 Synonymous SNV I142I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.007 229385 chr13 21148610 21148610 T C rs201009750 IFT88 Nonsynonymous SNV I29T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.882 229386 chr2 180810067 180810067 C T rs200967500 CWC22 Nonsynonymous SNV R839Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.69 229387 chr13 21557531 21557531 T C rs113758453 LATS2 Nonsynonymous SNV I772V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.85 229388 chr2 182376480 182376480 T A rs35322532 ITGA4 Nonsynonymous SNV S634T 0 0.005 0.007 1 0 2 0.003 2 0 0 0 0 Benign 21.4 229389 chr1 3545021 3545024 AAAG - TPRG1L E226Afs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 229390 chr2 182423378 182423378 C G rs140898616 CERKL Synonymous SNV L227L 0.001 0.005 0.007 1 1 2 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.331 229391 chr19 805158 805158 C T rs147259741 PTBP1 Nonsynonymous SNV S288L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.55 229392 chrX 77268444 77268444 C T rs781928652 ATP7A Synonymous SNV D747D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.56 229393 chrX 91518124 91518124 A G rs773960934 PCDH11X Synonymous SNV E1042E 0 0 0.01 0 0 0 0 3 0 0 1 0 0.024 229394 chr1 6662830 6662830 C T rs998648005 KLHL21 Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 229395 chr8 61654834 61654834 A G rs764411605 CHD7 Synonymous SNV Q281Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.029 229396 chr2 197002219 197002219 A G rs752170351 STK17B Synonymous SNV D357D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.213 229397 chr3 197417978 197417978 C T rs760665551 RUBCN Nonsynonymous SNV G624R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 229398 chr13 42876938 42876938 A G rs370055807 AKAP11 Nonsynonymous SNV I1352M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 229399 chr2 202173898 202173898 G A FLACC1 Stop gain R251X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 229400 chr12 40041611 40041611 A G rs766497647 C12orf40 Synonymous SNV S134S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.933 229401 chr12 8991782 8991782 C A A2ML1 Nonsynonymous SNV S348R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 229402 chr2 202588160 202588160 C T rs41309046 ALS2 Nonsynonymous SNV E1173K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 33 229403 chr8 76456167 76456167 G A HNF4G Synonymous SNV K80K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 229404 chr12 4479611 4479611 C G rs369035509 FGF23 Synonymous SNV P218P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.337 229405 chr8 91031328 91031328 G A rs779605523 DECR1 Synonymous SNV Q115Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.426 229406 chr19 9063485 9063485 G A MUC16 Synonymous SNV S7987S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.855 229407 chr4 5458560 5458560 G A STK32B Synonymous SNV T201T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 229408 chr10 120810177 120810177 T G rs145288541 EIF3A Nonsynonymous SNV K777Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 229409 chr10 121212317 121212317 C T rs200305868 GRK5 Synonymous SNV N513N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 7.813 229410 chr13 79951566 79951566 C G rs375209835 RBM26 Nonsynonymous SNV S92T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 229411 chr13 95131222 95131222 C T rs753777021 DCT Synonymous SNV K96K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 229412 chr12 98927236 98927236 C T rs773389005 TMPO Nonsynonymous SNV P401S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.523 229413 chr13 97639595 97639595 C G rs772643646 OXGR1 Nonsynonymous SNV S140T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 229414 chr9 101585687 101585687 T C rs138795909 GALNT12 Nonsynonymous SNV V174A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 26 229415 chr12 50745893 50745893 G T rs752154476 FAM186A Synonymous SNV A1574A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.038 229416 chr12 50745894 50745894 G T rs762593533 FAM186A Nonsynonymous SNV A1574D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.016 229417 chr12 50745899 50745899 G C rs34996916 FAM186A Synonymous SNV A1572A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.013 229418 chr10 124648071 124648071 C G rs546247986 LOC399815 0 0 0.003 0 0 0 0 1 0 0 0 0 3.28 229419 chr14 102891391 102891391 C T rs141078176 TECPR2 Synonymous SNV P238P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.66 229420 chr13 113333592 113333592 G A rs532070406 ATP11AUN 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.16 229421 chr13 113893834 113893834 C T rs140870191 CUL4A Nonsynonymous SNV A335V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.94 229422 chr12 53242595 53242595 G A rs61754161 KRT78 Synonymous SNV S40S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.48 229423 chr1 24421427 24421427 C A rs781161391 MYOM3 Nonsynonymous SNV A282S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 229424 chr4 38690619 38690619 C T rs748527189 KLF3 Synonymous SNV Y157Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.934 229425 chr4 40936691 40936691 G A rs745592709 APBB2 Nonsynonymous SNV P356L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 229426 chr4 41951387 41951387 G A TMEM33 Nonsynonymous SNV R200K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 229427 chr10 21463740 21463740 C T rs145215398 NEBL-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 9.427 229428 chr10 21940659 21940659 C T rs757463451 MLLT10 Nonsynonymous SNV P253S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 229429 chr4 47514595 47514595 G A rs111932778 ATP10D Nonsynonymous SNV R13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 229430 chr1 114226103 114226103 G A MAGI3 Nonsynonymous SNV E1305K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.468 229431 chr10 26792144 26792144 G A rs113442503 APBB1IP Nonsynonymous SNV A158T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.5 229432 chr10 27529358 27529358 C A rs779034551 ACBD5 Nonsynonymous SNV R22I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 229433 chr10 27687492 27687492 A G rs370492754 PTCHD3 Nonsynonymous SNV C679R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 229434 chr1 117484431 117484431 T C rs34531926 PTGFRN Synonymous SNV Y48Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.521 229435 chr10 28024177 28024177 C T rs34806745 MKX Nonsynonymous SNV V159I 0.001 0 0.01 0 1 0 0 3 0 0 0 0 12.3 229436 chr1 32936652 32936675 GCGGCGGCTGCAGCGGCGGCAGCA - rs759106678 ZBTB8B A146_A153del 0.001 0 0 0 1 0 0 0 0 0 0 0 229437 chr13 36886499 36886499 A G SPART Synonymous SNV S533S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.18 229438 chr12 57441501 57441501 C A rs147101055 MYO1A Nonsynonymous SNV A79S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Likely benign 26.3 229439 chr1 118539348 118539348 T C rs757454476 SPAG17 Nonsynonymous SNV I1599V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 229440 chr9 126144262 126144262 G A rs116352541 DENND1A Nonsynonymous SNV P838S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.074 229441 chr1 12089933 12089933 C T rs758965693 MIIP Nonsynonymous SNV A276V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.739 229442 chr1 1246396 1246396 A G PUSL1 Synonymous SNV T292T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.008 229443 chr13 48939097 48939097 G A rs200844292 RB1 Nonsynonymous SNV G310E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.57 229444 chr10 49763526 49763526 G C ARHGAP22 Nonsynonymous SNV L102V 0 0 0.007 0 0 0 0 2 0 0 1 0 21.3 229445 chr2 242066492 242066492 T C rs146219306 PASK Nonsynonymous SNV Y613C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.207 229446 chr1 151090499 151090499 C T rs752198302 GABPB2 Stop gain R294X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 229447 chr13 70681709 70681709 G A rs141447437 KLHL1 Synonymous SNV D41D 0 0.005 0 0 0 2 0 0 0 0 0 0 5.755 229448 chr5 147477440 147477440 G A rs201879958 SPINK5 Nonsynonymous SNV S298N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.92 229449 chr2 242813886 242813886 C T rs76064495 RTP5 Nonsynonymous SNV P60L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.469 229450 chr12 71286606 71286606 G A rs149684669 PTPRR Synonymous SNV S70S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.205 229451 chr3 3888176 3888176 C T rs751942395 LRRN1 Synonymous SNV A617A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.136 229452 chr13 77672598 77672598 C T rs150009936 MYCBP2 Synonymous SNV T2897T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 229453 chr10 6368584 6368584 C A rs184437755 LINC02649 0 0 0.007 0 0 0 0 2 0 0 0 0 5.759 229454 chr14 47120934 47120934 C A rs202082945 RPL10L Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 229455 chr10 64973343 64973343 T C rs376361926 JMJD1C Nonsynonymous SNV I643V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 229456 chr10 69770367 69770367 G A rs781716875 POU5F1P5 0 0 0.003 0 0 0 0 1 0 0 0 0 2.78 229457 chr12 88513896 88513896 C T rs866571949 CEP290 Nonsynonymous SNV R506H 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 Uncertain significance 24.9 229458 chr9 137686949 137686949 C T rs144985214 COL5A1 Nonsynonymous SNV P908S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.2 229459 chr9 137804954 137804954 - CCCC rs538359735 FCN1 Frameshift insertion Y126Gfs*23 0.001 0 0 1 1 0 0.003 0 0 0 0 0 229460 chr1 156508667 156508667 T C rs201814035 IQGAP3 Nonsynonymous SNV H1072R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.41 229461 chr10 77167426 77167426 T C rs138087948 ZNF503-AS2 0 0 0.014 0 0 0 0 4 0 0 0 0 6.05 229462 chr1 156821785 156821785 C T rs768816866 INSRR Nonsynonymous SNV R279H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.658 229463 chr13 100637587 100637587 C T ZIC2 Nonsynonymous SNV S417F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 229464 chr10 95326793 95326793 C T rs752353852 FFAR4 Synonymous SNV L106L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 229465 chr4 140640804 140640804 C T rs199535969 MAML3 Nonsynonymous SNV M1030I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 229466 chr1 78390892 78390892 C T rs530346055 NEXN Nonsynonymous SNV T92M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 229467 chr1 78958893 78958893 G A rs116802591 PTGFR Nonsynonymous SNV M155I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.97 229468 chr4 146651099 146651099 G A rs200202941 C4orf51 Synonymous SNV G161G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.599 229469 chr9 14812915 14812915 T C rs771396927 FREM1 Nonsynonymous SNV I930V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 7.414 229470 chr13 113833316 113833316 G A rs371416495 PCID2 Synonymous SNV D358D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.713 229471 chr9 19063081 19063081 A T rs199958062 HAUS6 Nonsynonymous SNV S483R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.727 229472 chr14 77844416 77844416 G A rs117026335 SAMD15 Nonsynonymous SNV E219K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 229473 chr14 24619909 24619909 C T rs766059067 RNF31 Nonsynonymous SNV R283W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 229474 chr3 47958135 47958135 C G rs753269640 MAP4 Nonsynonymous SNV K394N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.63 229475 chr3 48265856 48265856 G T rs747793782 CAMP Nonsynonymous SNV D72Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 229476 chr3 48453990 48453990 G A rs145054344 PLXNB1 Nonsynonymous SNV R1632W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 229477 chr14 94674852 94674852 G C PPP4R4 Nonsynonymous SNV L81F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 229478 chr9 37857331 37857331 G C rs201789974 DCAF10 Nonsynonymous SNV R210P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.9 229479 chr1 104616100 104616100 C G LOC100129138 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.215 229480 chr11 104817814 104817814 C T rs56008239 CASP4 Nonsynonymous SNV R344Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 229481 chr11 107200681 107200681 A G rs60957044 CWF19L2 Nonsynonymous SNV I835T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 229482 chr11 107396311 107396311 A C rs61743188 ALKBH8 Nonsynonymous SNV C299G 0 0 0.003 0 0 0 0 1 0 0 0 0 21 229483 chr11 107422535 107422535 T G rs73553694 ALKBH8 Nonsynonymous SNV Q236H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.482 229484 chr15 100589154 100589154 C T rs117133620 ADAMTS17 Synonymous SNV K833K 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 15.87 229485 chr11 107424685 107424685 C T rs60477330 ALKBH8 Synonymous SNV R132R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 229486 chr11 107427622 107427622 G C rs78396710 ALKBH8 Nonsynonymous SNV N82K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 229487 chr6 80717711 80717711 T C TTK Nonsynonymous SNV F109L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 229488 chr9 78784693 78784693 G A rs145509473 PCSK5 Nonsynonymous SNV A565T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.16 229489 chr9 78911715 78911715 C T PCSK5 Synonymous SNV L1153L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 229490 chr4 188924088 188924088 G C ZFP42 Nonsynonymous SNV V43L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.096 229491 chr1 17588696 17588696 T C PADI3 Synonymous SNV C114C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.095 229492 chr14 55168990 55168990 C T rs760281497 SAMD4A Nonsynonymous SNV S136L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 229493 chr3 58303463 58303463 C T rs532417550 HTD2 Synonymous SNV R41R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.11 229494 chr1 112999346 112999346 G A rs763467939 CTTNBP2NL Nonsynonymous SNV S411N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.31 229495 chr14 58934629 58934629 C T KIAA0586 Nonsynonymous SNV L671F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 229496 chr11 118851416 118851416 C A FOXR1 Synonymous SNV I276I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 229497 chr11 118983058 118983058 G A rs375253280 C2CD2L Nonsynonymous SNV R347Q 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 229498 chr9 99413975 99413975 A G rs775551566 PRXL2C Nonsynonymous SNV I94T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 229499 chr11 120983810 120983810 C G rs758801148 TECTA Synonymous SNV S172S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 229500 chr1 150960630 150960630 A T ANXA9 Nonsynonymous SNV H254L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 229501 chr14 69792736 69792736 G A rs571403849 GALNT16 Nonsynonymous SNV R187Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.17 229502 chr1 151142995 151142995 G A rs146592769 TMOD4 Nonsynonymous SNV R339C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 229503 chr1 1890600 1890600 C T rs373079784 CFAP74 Nonsynonymous SNV E604K 0.003 0 0 0 3 0 0 0 0 0 0 0 16.04 229504 chr1 151237353 151237353 A G rs777675118 PSMD4 Nonsynonymous SNV I110V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 229505 chr14 104206598 104206598 C T rs775061683 PPP1R13B Nonsynonymous SNV G719R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 229506 chr11 123893984 123893984 A C rs11219412 OR10G9 Synonymous SNV R89R 0 0 0.02 0 0 0 0 6 0 0 1 0 0.002 229507 chr11 123893988 123893988 C T rs11535718 OR10G9 Nonsynonymous SNV A90V 0 0 0.02 0 0 0 0 6 0 0 1 0 Benign 0.206 229508 chr3 113789574 113789574 C T rs538295776 QTRT2 Synonymous SNV S39S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.69 229509 chrX 151092736 151092736 A G rs61741057 MAGEA4 Synonymous SNV T200T 0.003 0.005 0.003 4 4 2 0.01 1 1 1 0 2 0.021 229510 chr15 52652164 52652164 C T MYO5A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 229511 chrX 18925165 18925165 C A rs141034910 PHKA2 Synonymous SNV P856P 0.001 0 0 2 1 0 0.005 0 0 0 0 1 Likely benign 13.11 229512 chr6 109583130 109583130 G A CCDC162P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.694 229513 chr3 124728586 124728586 C T rs147058155 HEG1 Synonymous SNV P1052P 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 229514 chr15 60656676 60656676 A T ANXA2 Nonsynonymous SNV N83K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 229515 chr15 100672251 100672251 G A rs140998386 ADAMTS17 Nonsynonymous SNV T561M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.8 229516 chr3 133119021 133119023 TCA - BFSP2 S35del 0 0 0 1 0 0 0.003 0 0 0 0 0 229517 chr15 23892252 23892281 GGAGGATGAGCCATCGGTGTCCCCGGAGGG - rs758291032 MAGEL2 H221_A230del 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 229518 chr1 2160299 2160299 C T SKI Synonymous SNV L32L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.418 229519 chr14 38061295 38061295 C T rs752702606 FOXA1 Nonsynonymous SNV A232T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 26.4 229520 chr6 136562787 136562787 C T rs561236270 MTFR2 Synonymous SNV E103E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.91 229521 chr11 28116342 28116342 C A rs200415552 KIF18A Nonsynonymous SNV A111S 0 0 0.007 0 0 0 0 2 0 0 0 0 32 229522 chr11 290074 290074 A G PGGHG Synonymous SNV T86T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 229523 chr3 140785349 140785349 A T rs201830688 SPSB4 Nonsynonymous SNV S135C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 229524 chr3 143708593 143708593 G A rs755349514 DIPK2A Synonymous SNV E192E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.997 229525 chr11 34492951 34492951 T C rs559641444 CAT Synonymous SNV L519L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 229526 chr6 149340342 149340342 C T rs777030313 UST Nonsynonymous SNV P250L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 229527 chr5 111530291 111530291 A G EPB41L4A Synonymous SNV N492N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 229528 chr11 404543 404543 C T rs188028709 PKP3 Nonsynonymous SNV R790W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 229529 chr10 11363213 11363213 G A rs61759503 CELF2 Synonymous SNV T145T 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.07 229530 chr14 58033205 58033205 G A rs201899051 SLC35F4 Nonsynonymous SNV P401S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 29.8 229531 chr7 6550663 6550663 C T rs752498238 GRID2IP Synonymous SNV P477P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.85 229532 chr5 134018085 134018085 C T rs199640839 SEC24A Synonymous SNV N468N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 229533 chr6 159653218 159653218 C A FNDC1 Nonsynonymous SNV D558E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.029 229534 chr15 43483801 43483801 C T rs367701381 CCNDBP1 Nonsynonymous SNV A263V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 229535 chr15 90208997 90208997 G A rs569394554 PLIN1 Synonymous SNV P462P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.77 229536 chr3 187086348 187086348 A G RTP4 Nonsynonymous SNV Q40R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 229537 chr3 189612062 189612062 G A rs142981128 TP63 Nonsynonymous SNV R426Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 229538 chr15 48936908 48936908 T C rs201309310 FBN1 Nonsynonymous SNV Y20C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.2 229539 chr3 194170909 194170909 T C rs534704705 ATP13A3 Nonsynonymous SNV N312S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.405 229540 chr16 11118703 11118703 G A CLEC16A Nonsynonymous SNV A470T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 229541 chr1 241904951 241904951 T C WDR64 Synonymous SNV S485S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.375 229542 chr10 134673954 134673954 A C CFAP46 Stop gain L1722X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 229543 chr3 197410199 197410199 C T rs367708706 RUBCN Synonymous SNV P653P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.43 229544 chr15 56388189 56388189 C T rs372457778 RFX7 Synonymous SNV L482L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.506 229545 chr16 1417745 1417745 C G UNKL Nonsynonymous SNV G66A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.126 229546 chr16 15149771 15149771 C T NTAN1 Nonsynonymous SNV V20I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 229547 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQQQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 229548 chr4 3237038 3237038 C T rs760075328 HTT Synonymous SNV H2828H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.09 229549 chr4 3237074 3237074 T A rs201724113 HTT Synonymous SNV I2840I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.72 229550 chr4 3517926 3517926 C T LRPAP1 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 229551 chr16 1840696 1840696 C T rs776272184 IGFALS Nonsynonymous SNV A613T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 229552 chr16 2025681 2025681 C T rs148031957 TBL3 Synonymous SNV Y319Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.179 229553 chr4 7736018 7736018 C T rs137867289 SORCS2 Synonymous SNV G1076G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.15 229554 chr1 2540829 2540829 G T MMEL1 Synonymous SNV R162R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.101 229555 chr1 27648782 27648782 A G rs750967920 TMEM222 Nonsynonymous SNV T32A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.19 229556 chr5 176825075 176825075 C A rs144700897 SLC34A1 Nonsynonymous SNV P570T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 229557 chr4 15992851 15992851 G A rs149028760 PROM1 Synonymous SNV N650N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.568 229558 chr11 57080450 57080450 G A rs370520637 TNKS1BP1 Nonsynonymous SNV P571L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 229559 chr5 177031265 177031265 C T rs748963969 B4GALT7 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 229560 chr6 41010728 41010728 C T rs780504651 TSPO2 Nonsynonymous SNV R2W 0 0 0 3 0 0 0.008 0 0 0 0 0 23.3 229561 chr5 177649561 177649561 C A rs779108954 PHYKPL Nonsynonymous SNV G200V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 229562 chr16 29818630 29818630 C G rs780466757 MAZ Nonsynonymous SNV P175R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 229563 chr5 178454485 178454485 G A rs1005998652 ZNF879 Synonymous SNV T15T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 229564 chr5 178506816 178506816 T A rs756470509 ZNF354C Synonymous SNV I461I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.076 229565 chr4 36318049 36318049 G C rs542659542 DTHD1 Nonsynonymous SNV V471L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.001 229566 chr4 37636680 37636680 G A rs202234057 RELL1 Nonsynonymous SNV T170M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 229567 chr16 30913769 30913769 T C rs892483374 CTF1 Nonsynonymous SNV V171A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.56 229568 chr11 59210866 59210866 C - rs746083169 OR5A1 Y76Tfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 229569 chr11 59225338 59225338 A G OR4D6 Nonsynonymous SNV Q302R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 229570 chr7 99725518 99725518 C T rs934479206 MBLAC1 Nonsynonymous SNV P167L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 229571 chr1 233297026 233297026 C T rs116509531 PCNX2 Synonymous SNV L1119L 0.003 0 0 0 4 0 0 0 0 0 0 0 16.84 229572 chr7 100284046 100284046 G A rs372651318 GIGYF1 Synonymous SNV P235P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.482 229573 chr6 3129287 3129287 G A rs145702455 BPHL Synonymous SNV K129K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 229574 chr16 3706722 3706722 C T DNASE1 Nonsynonymous SNV P135L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 229575 chr6 7240700 7240700 G A rs746611471 RREB1 Nonsynonymous SNV D1280N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 229576 chr4 55976887 55976887 G A rs779163827 KDR Nonsynonymous SNV A342V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.17 229577 chr11 615275 615275 C T rs368180035 IRF7 Nonsynonymous SNV R15Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 14.21 229578 chr10 6540406 6540406 G C rs201313286 PRKCQ Nonsynonymous SNV T40S 0 0 0 1 0 0 0.003 0 0 0 0 0 28 229579 chr1 41481695 41481695 A C SLFNL1-AS1 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.694 229580 chr16 4557975 4557975 C T rs774801525 HMOX2 Nonsynonymous SNV R127C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 229581 chr6 10557005 10557005 A G rs546942401 GCNT2 Nonsynonymous SNV M117V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 229582 chr4 57777018 57777018 C A rs377080732 REST Nonsynonymous SNV Q72K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 229583 chr11 6221137 6221137 T C rs753614040 OR52W1 Synonymous SNV H228H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.091 229584 chr4 68459036 68459036 A C rs749627899 STAP1 Nonsynonymous SNV N263T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.07 229585 chr1 247654976 247654976 G A rs140009076 OR2W5 Nonsynonymous SNV A183T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.649 229586 chr16 53262977 53262977 T A rs78343231 CHD9 Nonsynonymous SNV L751M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 229587 chr1 247835768 247835768 A G rs61997172 OR13G1 Synonymous SNV N192N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.763 229588 chr1 247835961 247835961 T C rs76372161 OR13G1 Nonsynonymous SNV H128R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 229589 chr4 74702531 74702531 C T CXCL6 Nonsynonymous SNV L22F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 229590 chr1 247978942 247978942 C G rs79307181 OR14A16 Nonsynonymous SNV L30F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 229591 chr16 57054712 57054712 G A rs569522024 NLRC5 Nonsynonymous SNV A30T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.434 229592 chr1 248309038 248309038 A G rs200416647 OR2M5 Nonsynonymous SNV K197E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.026 229593 chr1 248309044 248309044 C A rs146509158 OR2M5 Nonsynonymous SNV L199I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.026 229594 chr1 248309068 248309068 A C rs147727887 OR2M5 Nonsynonymous SNV I207L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 229595 chr1 248309076 248309076 T C rs146909155 OR2M5 Synonymous SNV F209F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 229596 chr11 65374880 65374880 T C MAP3K11 Synonymous SNV L450L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.303 229597 chr16 2013029 2013031 GAG - rs755634841 SNORA64 0.001 0.003 0 0 1 1 0 0 0 0 0 0 229598 chr16 66432453 66432453 C T rs376258137 CDH5 Nonsynonymous SNV T527M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 229599 chr16 66638798 66638798 G A CMTM3 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.918 229600 chr16 67916971 67916971 G A rs774525692 EDC4 Nonsynonymous SNV R1247H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 229601 chr16 67978795 67978795 C T rs146713633 SLC12A4 Nonsynonymous SNV R1071Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 229602 chr4 96141186 96141186 G A rs202087388 UNC5C Nonsynonymous SNV S417L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 229603 chr16 2140494 2140494 G A PKD1 Nonsynonymous SNV S4078F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 229604 chr11 6736093 6736093 C A rs183092933 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.794 229605 chr16 70698204 70698204 A C MTSS2 Synonymous SNV A540A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 229606 chr1 63063668 63063671 AACT - rs398122987 ANGPTL3 Stop gain N147* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 229607 chr6 35837283 35837283 G C rs186925364 SRPK1 Nonsynonymous SNV H463D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 229608 chr16 732963 732963 C T rs757714720 JMJD8 Nonsynonymous SNV R205Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.79 229609 chr4 113187833 113187833 G A rs761705111 AP1AR Nonsynonymous SNV D169N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 229610 chr16 74694907 74694907 C T RFWD3 Synonymous SNV G147G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 229611 chr16 28846504 28846504 T C rs556772605 ATXN2L Synonymous SNV L859L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.661 229612 chr11 71150037 71150037 T C rs148609143 DHCR7 Nonsynonymous SNV N240S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.9 229613 chr6 42937678 42937678 G A rs771717513 PEX6 Nonsynonymous SNV P393L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.81 229614 chr11 74716515 74716515 C T rs201872634 NEU3 Nonsynonymous SNV P51L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.2 229615 chr11 1017085 1017085 G A rs200257435 MUC6 Nonsynonymous SNV P1906S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 229616 chr1 85422123 85422123 C A MCOLN2 Nonsynonymous SNV V186F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.53 229617 chr6 44272462 44272489 GGAGGCCACAGCGCTGGCCTTTCCCCAC - rs780639922 AARS2 V549Sfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 229618 chr16 84255934 84255934 T C rs80291182 KCNG4 Synonymous SNV P483P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.111 229619 chr16 84256004 84256004 G C rs113062863 KCNG4 Nonsynonymous SNV S460C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 229620 chr16 84256030 84256030 C T rs113215329 KCNG4 Synonymous SNV T451T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.72 229621 chr11 82644918 82644918 C T DDIAS Synonymous SNV D846D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.593 229622 chr4 151749473 151749473 T C rs17027133 LRBA Nonsynonymous SNV N1677S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 229623 chr16 88494463 88494463 C G rs896312288 ZNF469 Nonsynonymous SNV N195K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 229624 chr16 4625656 4625656 G A rs548069395 C16orf96 Nonsynonymous SNV R392H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 229625 chr4 155156706 155156706 G A rs144095333 DCHS2 Nonsynonymous SNV T3033I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.781 229626 chr16 88502477 88502477 G A rs745468033 ZNF469 Nonsynonymous SNV G2867S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 229627 chr16 4926889 4926889 T A rs375321855 UBN1 Synonymous SNV T1014T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.33 229628 chr16 88723987 88723987 C T rs200100993 MVD Nonsynonymous SNV R87H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 229629 chr16 49669752 49669752 A G ZNF423 Nonsynonymous SNV V987A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.51 229630 chr11 9442178 9442178 A G rs182612241 IPO7 Nonsynonymous SNV N280S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 229631 chr1 94485239 94485239 G A ABCA4 Nonsynonymous SNV L1699F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.5 229632 chr6 72889423 72889423 G A rs756083640 RIMS1 Nonsynonymous SNV R206K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 229633 chr7 11581199 11581199 C T rs374390277 THSD7A Nonsynonymous SNV G557R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 229634 chr12 10150966 10150966 G A rs958475583 CLEC1B Synonymous SNV S26S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.087 229635 chr16 89651953 89651953 C T rs150443459 CPNE7 Nonsynonymous SNV P225S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 229636 chr12 104156142 104156142 C T rs201240497 STAB2 Nonsynonymous SNV R2484W 0 0 0.003 0 0 0 0 1 0 0 0 0 30 229637 chr6 89899960 89899961 TG - GABRR1 T176Sfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 229638 chr6 90374257 90374257 T C rs761645202 MDN1 Nonsynonymous SNV M4729V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 229639 chr11 116728702 116728702 T A rs370240592 SIK3 Nonsynonymous SNV K1052M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.3 229640 chr6 90398545 90398545 C T rs369699528 LOC101929057 0.001 0 0 0 1 0 0 0 0 0 0 0 0.141 229641 chr16 15931766 15931766 T C MYH11 Nonsynonymous SNV Y115C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 229642 chr2 73441436 73441436 C T rs752531568 SMYD5 Synonymous SNV G14G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 229643 chr6 90578448 90578448 A G CASP8AP2 Synonymous SNV K1813K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.19 229644 chr17 11924249 11924249 A G MAP2K4 Nonsynonymous SNV S16G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 229645 chr17 12832337 12832337 G A rs773242952 ARHGAP44 Nonsynonymous SNV A186T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 229646 chr2 74044019 74044019 G A rs748756915 C2orf78 Nonsynonymous SNV R890H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 229647 chr11 119213348 119213348 C T rs139725672 MFRP Nonsynonymous SNV G449S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 8.193 229648 chr5 666106 666106 C T rs146377171 TPPP Synonymous SNV A148A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.48 229649 chr5 1483578 1483578 C T rs140048874 LPCAT1 Nonsynonymous SNV V231I 0 0 0 1 0 0 0.003 0 0 0 0 0 26 229650 chr17 17700187 17700187 G C RAI1 Nonsynonymous SNV A1309P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.35 229651 chr16 21288824 21288824 G A CRYM Synonymous SNV G84G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.75 229652 chr12 121600322 121600322 C T rs199996415 P2RX7 Nonsynonymous SNV R178W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 229653 chr16 28074517 28074517 - GGCGGT rs769658739 GSG1L A76_S77insTA 0.001 0.005 0 0 1 2 0 0 0 0 0 0 229654 chr5 33549411 33549411 C T rs77799285 ADAMTS12 Synonymous SNV R1316R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 229655 chr20 33578849 33578849 A G MYH7B Nonsynonymous SNV N745S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 229656 chr2 109099531 109099531 C G rs112971525 GCC2 Nonsynonymous SNV T1120S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 19.94 229657 chr12 123214593 123214593 G C HCAR1 Nonsynonymous SNV N98K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 229658 chr16 84203533 84203533 G A rs763129355 DNAAF1 Nonsynonymous SNV G131R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.033 229659 chr2 109546682 109546682 G A rs760731007 EDAR Nonsynonymous SNV S23L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.46 229660 chr7 1539980 1539980 A C INTS1 Nonsynonymous SNV D124E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 229661 chr16 85838751 85838751 C T rs780067773 COX4I1 Nonsynonymous SNV S19L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.024 229662 chr20 44044818 44044818 G C rs569386009 PIGT Nonsynonymous SNV A8P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.895 229663 chr2 128317303 128317303 G A rs189648068 MYO7B Synonymous SNV S2S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.173 229664 chr16 3486736 3486736 G A rs34461484 ZNF597 Synonymous SNV D321D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 0.051 229665 chr16 3556398 3556398 G T rs34115694 CLUAP1 Nonsynonymous SNV A68S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 19.98 229666 chr12 133435778 133435778 C T rs148618944 CHFR Nonsynonymous SNV A183T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.761 229667 chr16 3707262 3707262 G A rs8176920 DNASE1 Synonymous SNV L208L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 7.404 229668 chr6 152453279 152453279 C T rs753533241 SYNE1 Nonsynonymous SNV S869N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 229669 chr20 47881382 47881382 C T rs147430984 ZNFX1 Synonymous SNV K674K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.65 229670 chr16 4626169 4626169 G A rs148700678 C16orf96 Nonsynonymous SNV R563Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 20.6 229671 chr17 34263830 34263830 C T rs767370964 LYZL6 Synonymous SNV L102L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.971 229672 chr6 157521868 157521868 C T rs377021700 ARID1B Synonymous SNV Y670Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.78 229673 chr2 149679717 149679717 A G rs560119808 KIF5C Synonymous SNV P46P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 229674 chr5 72419272 72419274 CTT - rs763830819 TMEM171 F26del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 229675 chr5 72874874 72874874 G A rs779638552 UTP15 Synonymous SNV T203T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.02 229676 chr7 27134289 27134289 C T rs200421049 HOXA1 Nonsynonymous SNV V260M 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 Uncertain significance 27.9 229677 chr12 250102 250102 T C rs78464347 LOC574538 0 0 0.031 0 0 0 0 9 0 0 0 0 0.895 229678 chr16 89703085 89703085 C T rs149167696 DPEP1 Nonsynonymous SNV T172M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 229679 chr5 74892338 74892338 A T POLK Nonsynonymous SNV N541I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.236 229680 chr2 159481530 159481530 G A rs79534754 PKP4 Synonymous SNV P248P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.402 229681 chr2 160721408 160721408 C - rs755902185 LY75, LY75-CD302 G714Vfs*2 0.001 0 0 1 1 0 0.003 0 0 0 0 0 229682 chr2 160983033 160983033 C T rs201047218 ITGB6 Synonymous SNV T485T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.85 229683 chr12 49434379 49434379 G A rs887990238 KMT2D Nonsynonymous SNV P2392S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.64 229684 chr16 67354670 67354670 T A rs150077027 KCTD19 Nonsynonymous SNV K41I 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 28.7 229685 chr7 1276304 1276304 G A rs556900316 UNCX Synonymous SNV S429S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.5 229686 chr17 18060524 18060524 G A rs761180573 MYO15A Nonsynonymous SNV R2923Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 20.5 229687 chr16 67919928 67919928 G A rs149800685 NRN1L Synonymous SNV P88P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 12.36 229688 chr7 2771031 2771031 G C GNA12 Nonsynonymous SNV I234M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 229689 chr20 62193308 62193308 T C rs369662922 HELZ2 Nonsynonymous SNV I1618V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 229690 chr2 183703144 183703144 G A rs185490352 FRZB Nonsynonymous SNV R264C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 229691 chr17 40497609 40497609 G A rs964892419 STAT3 Nonsynonymous SNV R114C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 229692 chr16 70590228 70590228 G A rs759215588 SF3B3 Synonymous SNV L619L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 12.31 229693 chr17 21319388 21319388 C T rs140875968 KCNJ12, KCNJ18 Nonsynonymous SNV P245L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 229694 chr16 71787737 71787737 G A rs376608642 AP1G1 Nonsynonymous SNV T428M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 229695 chr17 41958698 41958698 C T MPP2 Nonsynonymous SNV G267D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 229696 chr12 53803227 53803227 C T rs61754167 SP1 Synonymous SNV H594H 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 14.07 229697 chr12 56118208 56118208 C T RDH5 Nonsynonymous SNV T279I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 229698 chr12 56528164 56528164 G A rs79645834 ESYT1 Synonymous SNV A538A 0 0 0.014 0 0 0 0 4 0 0 0 0 Benign 13.64 229699 chr16 81730188 81730188 G C CMIP Synonymous SNV V424V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.15 229700 chr17 33331489 33331489 A G LIG3 Synonymous SNV A998A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.12 229701 chr2 207345997 207345997 C T rs141683172 ADAM23 Synonymous SNV F158F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.75 229702 chr17 46940327 46940327 A G rs997039140 CALCOCO2 Nonsynonymous SNV K392R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 229703 chr5 137654977 137654977 T C rs199842341 CDC25C Synonymous SNV L109L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.14 229704 chr7 30721569 30721569 C A rs766065967 CRHR2 Nonsynonymous SNV C64F 0.001 0 0 0 1 0 0 0 0 0 0 0 34 229705 chr12 62996546 62996546 - G rs571279660 LINC01465 0 0 0.003 0 0 0 0 1 0 0 0 0 229706 chr2 210860150 210860150 C T rs778403850 UNC80 Nonsynonymous SNV P3179L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 229707 chr17 34958461 34958461 C A MRM1 Synonymous SNV L74L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.62 229708 chr17 35536241 35536241 C T ACACA Nonsynonymous SNV G1585D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 229709 chr17 35928962 35928962 T C rs142860061 SYNRG Nonsynonymous SNV D310G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 229710 chr12 6636189 6636189 G A rs764641749 NCAPD2 Nonsynonymous SNV R956Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.004 229711 chr7 37960978 37960978 A G EPDR1 Nonsynonymous SNV D4G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.322 229712 chr17 36485972 36485972 G A rs766603105 GPR179 Synonymous SNV H1160H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.018 229713 chr17 36487396 36487396 A T rs752961925 GPR179 Nonsynonymous SNV Y686N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 229714 chr21 43339030 43339030 T C C2CD2 Nonsynonymous SNV I23V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 229715 chr7 42063130 42063130 A G GLI3 Synonymous SNV Y478Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.703 229716 chr12 70986141 70986141 G A rs762603921 PTPRB Synonymous SNV V349V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.786 229717 chr21 46281170 46281170 G C rs144668992 PTTG1IP Nonsynonymous SNV T62S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Benign 4.071 229718 chr21 46380065 46380065 C T rs369865339 FAM207A Nonsynonymous SNV R112C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.7 229719 chr2 220502348 220502348 G A rs1050271986 SLC4A3 Nonsynonymous SNV A888T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 229720 chr5 149588999 149588999 G A rs763019254 SLC6A7 Nonsynonymous SNV D578N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 229721 chr5 149755884 149755884 C T rs369582082 TCOF1 Synonymous SNV T634T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.89 229722 chr17 67190065 67190065 T C rs755644044 ABCA10 Nonsynonymous SNV I471V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.994 229723 chr17 1486567 1486567 G A SLC43A2 Synonymous SNV A290A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.9 229724 chr7 73474255 73474290 TGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCT - rs782689674 ELN L416_G427del 0.001 0 0 0 1 0 0 0 0 0 0 0 229725 chr17 39890797 39890797 T C rs377471011 HAP1 Synonymous SNV S30S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.46 229726 chr13 103381815 103381815 C T rs191736113 CCDC168 Nonsynonymous SNV V7078I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.559 229727 chr22 22287801 22287801 G A rs144678508 PPM1F Nonsynonymous SNV R237C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 229728 chr13 103419644 103419644 T C TEX30 Synonymous SNV S120S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.032 229729 chr13 103524647 103524647 C G rs9518857 BIVM-ERCC5, ERCC5 Synonymous SNV G926G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.75 229730 chr17 43138761 43138766 GGGAAC - NMT1 N25_G26del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 229731 chr13 110861199 110861199 G A rs149688210 COL4A1 Synonymous SNV D230D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.854 229732 chr5 168139381 168139381 G A rs200851663 LOC101927969 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.415 229733 chr22 23956322 23956322 G A rs74953418 DRICH1 Synonymous SNV H207H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 229734 chr13 20356646 20356646 G A rs199904532 PSPC1 Synonymous SNV L84L 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 0.759 229735 chr17 73816140 73816140 T C rs375773531 UNK Synonymous SNV S596S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.789 229736 chr5 176665277 176665277 G A rs953238743 NSD1 Nonsynonymous SNV G1321S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.02 229737 chr13 25265257 25265257 G A ATP12A Nonsynonymous SNV V319M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 229738 chr13 25370403 25370403 C T rs149938778 RNF17 Nonsynonymous SNV H457Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.824 229739 chr5 176764372 176764372 G A rs150993917 LMAN2 Nonsynonymous SNV R223C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 229740 chr5 176910876 176910876 C T rs753710422 PDLIM7 Nonsynonymous SNV V427I 0 0 0 1 0 0 0.003 0 0 0 0 0 24 229741 chr17 2577500 2577500 G A rs794729199 PAFAH1B1 Nonsynonymous SNV R273Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely pathogenic 27.7 229742 chr9 73426132 73426132 G A rs139374950 TRPM3 Synonymous SNV S181S 0.001 0.01 0.003 0 1 4 0 1 0 0 0 0 22.4 229743 chr2 242695322 242695322 A G rs138598929 D2HGDH Nonsynonymous SNV Y266C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.4 229744 chr5 179739451 179739451 G C GFPT2 Nonsynonymous SNV R509G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 229745 chr6 2890674 2890674 C T rs762501030 SERPINB9 Nonsynonymous SNV R285Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.394 229746 chr17 7752544 7752546 CAG - rs147815183 KDM6B Q980del 0.001 0 0 0 1 0 0 0 0 0 0 0 229747 chr6 7231022 7231022 A G rs139625876 RREB1 Nonsynonymous SNV N897S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.6 229748 chr6 12124192 12124192 C T rs371406056 HIVEP1 Synonymous SNV F1388F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.344 229749 chr17 3527481 3527481 G A rs144071313 SHPK Stop gain R119X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Affects 23.8 229750 chr6 17649425 17649425 G A rs149046438 NUP153 Nonsynonymous SNV P501L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 229751 chr17 62512882 62512882 C T CEP95 Nonsynonymous SNV R137C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.65 229752 chr9 103109034 103109034 T C rs138695808 TEX10 Nonsynonymous SNV I282V 0 0.008 0.007 1 0 3 0.003 2 0 0 0 0 1.563 229753 chr6 24848287 24848287 G A rs201901775 RIPOR2 Nonsynonymous SNV P377L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 229754 chr14 101393745 101393745 G T rs201762721 SNORD113-2 0 0 0.01 0 0 0 0 3 0 0 0 0 3.089 229755 chr14 102675578 102675578 T C rs538378806 WDR20 Synonymous SNV S296S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.252 229756 chr14 102900806 102900806 A G rs778600439 TECPR2 Nonsynonymous SNV E551G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.74 229757 chr17 80863833 80863833 T G rs372610438 TBCD Nonsynonymous SNV M609R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.608 229758 chr17 65908923 65908923 C T rs141710319 BPTF Synonymous SNV G1641G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.49 229759 chr17 8161213 8161213 A G rs765753310 PFAS Synonymous SNV G388G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.714 229760 chr6 28219564 28219564 C T rs766462128 ZKSCAN4 Synonymous SNV A65A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.01 229761 chr6 28251650 28251650 G A PGBD1 Synonymous SNV K20K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 229762 chr17 3916826 3916826 C T rs145180691 ZZEF1 Synonymous SNV V2832V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.61 229763 chr17 9631280 9631280 A G USP43 Nonsynonymous SNV E777G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 229764 chr17 9684816 9684816 C T rs573118389 DHRS7C Nonsynonymous SNV V84M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 229765 chr11 63398812 63398812 - T rs765984279 ATL3 Stop gain Y395* 0.001 0 0 4 1 0 0.01 0 0 0 0 0 229766 chr11 63883777 63883777 C G rs139768227 FLRT1 Nonsynonymous SNV T13R 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Uncertain significance 7.677 229767 chr7 128484133 128484133 G A rs202039743 FLNC Nonsynonymous SNV R1002Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 229768 chr11 64108435 64108435 C T CCDC88B Nonsynonymous SNV A88V 0.001 0 0 4 1 0 0.01 0 0 0 0 0 10.19 229769 chr14 21270133 21270133 C T rs148221178 RNASE1 Nonsynonymous SNV R32Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.632 229770 chr11 64884560 64884560 G A rs371992814 ZNHIT2 Nonsynonymous SNV T189M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.205 229771 chr6 39398929 39398929 C T rs751271999 KIF6 Nonsynonymous SNV E3K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 229772 chr11 64950331 64950331 G A rs17880800 CAPN1 Synonymous SNV G53G 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign 9.591 229773 chr6 39836606 39836606 T G DAAM2 Nonsynonymous SNV L257R 0 0 0 1 0 0 0.003 0 0 0 0 0 26 229774 chr14 22038540 22038540 C T rs139555105 OR10G3 Synonymous SNV Q112Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.766 229775 chr18 29426719 29426719 C T rs201697808 TRAPPC8 Nonsynonymous SNV R1266H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 229776 chr11 65684963 65684963 C A rs756291525 C11orf68 Synonymous SNV V283V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 13.17 229777 chr6 43323227 43323227 G A rs139144966 ZNF318 Synonymous SNV T615T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.182 229778 chr11 66411333 66411333 C G RBM14-RBM4, RBM4 Nonsynonymous SNV H250Q 0.001 0 0 4 1 0 0.01 0 0 0 0 0 15.08 229779 chr18 43247916 43247916 C T SLC14A2 Synonymous SNV P612P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 229780 chr11 67188594 67188594 G A rs12277001 CARNS1 Synonymous SNV A387A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.22 229781 chr6 46623653 46623653 C T rs186905204 SLC25A27 Synonymous SNV D60D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.84 229782 chr7 143175689 143175689 C T rs200985152 TAS2R41 Nonsynonymous SNV L242F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.6 229783 chr6 46726553 46726553 G A rs375684650 ANKRD66 Synonymous SNV R217R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.04 229784 chr18 47364071 47364071 A T rs201466306 MYO5B Nonsynonymous SNV Y1652N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 229785 chr11 67352161 67352161 C T rs8191448 GSTP1 Synonymous SNV Y50Y 0.003 0 0 4 3 0 0.01 0 0 0 0 0 6.333 229786 chr11 67377890 67377890 C G rs10896187 NDUFV1 Synonymous SNV G174G 0.002 0 0 4 2 0 0.01 0 0 0 0 0 Benign 12.57 229787 chr11 67400566 67400566 G A rs11227870 TBX10 Synonymous SNV L186L 0.002 0 0 5 2 0 0.013 0 0 0 0 0 10.49 229788 chr18 51809364 51809364 G C rs35830201 POLI Synonymous SNV V197V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.492 229789 chr6 52874337 52874337 C T rs745489472 CILK1 Synonymous SNV S507S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.09 229790 chr6 70981768 70981768 A G rs781437818 COL9A1 Synonymous SNV P120P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 229791 chr9 135702719 135702719 C T rs765851631 AK8 Synonymous SNV R5R 0 0.005 0 0 0 2 0 0 0 0 0 0 5.881 229792 chr3 58129242 58129242 T C FLNB Nonsynonymous SNV I1752T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 29 229793 chr6 75950956 75950956 G A rs750678578 COX7A2 Nonsynonymous SNV T15M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 229794 chr2 120848026 120848026 G A rs543802150 EPB41L5 Nonsynonymous SNV R326Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 229795 chr2 128389834 128389834 C T rs530176026 MYO7B Nonsynonymous SNV R1729W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 229796 chr6 88315691 88315691 A G rs143881974 ORC3 Nonsynonymous SNV N127D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.409 229797 chr6 90397749 90397749 T C LOC101929057 0 0 0 1 0 0 0.003 0 0 0 0 0 6.783 229798 chr14 64692115 64692115 - CTG rs759060023 SYNE2 L393_A394insL 0 0 0.003 0 0 0 0 1 0 0 0 0 229799 chr3 97467457 97467457 T A rs200120931 EPHA6 Nonsynonymous SNV L1102H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 229800 chr8 10480211 10480211 T C rs79329877 RP1L1 Synonymous SNV T167T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.047 229801 chr9 139925577 139925577 G A FUT7 Nonsynonymous SNV A205V 0 0.005 0 0 0 2 0 0 0 0 0 0 16.31 229802 chr8 10532237 10532237 C A rs186803488 C8orf74 Nonsynonymous SNV L44M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 229803 chr8 10555301 10555301 G T rs77073793 C8orf74 Nonsynonymous SNV C145F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 229804 chr9 140001888 140001888 G A rs150734795 MAN1B1 Nonsynonymous SNV V585M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 11.36 229805 chr14 74125590 74125590 T G DNAL1 Nonsynonymous SNV I28R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 229806 chr6 109768429 109768429 C T rs143283451 MICAL1 Nonsynonymous SNV G606S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 229807 chr9 140127734 140127734 G A rs754447323 SLC34A3 Nonsynonymous SNV A212T 0 0.005 0 0 0 2 0 0 0 0 0 0 20.2 229808 chr2 15557679 15557679 A G rs751853971 NBAS Nonsynonymous SNV I912T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 229809 chr6 110734651 110734651 C T rs370690467 DDO Synonymous SNV R5R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.701 229810 chr9 140146552 140146552 C G STPG3 Nonsynonymous SNV P123R 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 229811 chr14 75078172 75078172 G A rs201089990 LTBP2 Nonsynonymous SNV P159L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 229812 chr9 140250776 140250776 G A rs368890121 EXD3 Nonsynonymous SNV P234L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 229813 chr14 75514519 75514519 G - MLH3 Q614Kfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 229814 chr14 75514521 75514528 ACTACATG - MLH3 H611Tfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 229815 chr8 17510780 17510780 T C rs201830393 MTUS1 Nonsynonymous SNV N172S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 229816 chr19 1059055 1059055 C T rs746810662 ABCA7 Nonsynonymous SNV R1812C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 229817 chr14 81743284 81743284 T G rs199521890 STON2 Nonsynonymous SNV I791L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 229818 chr6 126080915 126080915 C T rs139845453 HEY2 Synonymous SNV Y327Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.904 229819 chr6 129581874 129581874 T G rs149753273 LAMA2 Synonymous SNV L705L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.464 229820 chr9 123421721 123421721 T G MEGF9 Nonsynonymous SNV N245T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.78 229821 chr19 11039755 11039755 A - TIMM29 R54Gfs*194 0.001 0 0 0 1 0 0 0 0 0 0 0 229822 chr19 1109305 1109305 G A rs779768771 SBNO2 Nonsynonymous SNV R1055C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 229823 chr19 11107037 11107037 A G rs765139835 SMARCA4 Nonsynonymous SNV K581R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 229824 chr12 10224012 10224012 A T rs747130047 CLEC1A Nonsynonymous SNV C163S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.71 229825 chr14 93299601 93299601 A G rs79947836 GOLGA5 Synonymous SNV Q618Q 0 0 0.007 0 0 0 0 2 0 0 0 0 1.217 229826 chr6 133834093 133834093 G T rs146977269 EYA4 Nonsynonymous SNV G419V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 229827 chr12 10313426 10313426 A C OLR1 Nonsynonymous SNV L175V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 229828 chr2 173883428 173883428 C T rs368051118 RAPGEF4 Nonsynonymous SNV R465W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 229829 chr18 32418752 32418752 C T rs139872140 DTNA Nonsynonymous SNV H115Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 229830 chr6 138754212 138754212 C A rs368681633 NHSL1 Nonsynonymous SNV V428F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 229831 chr6 142691655 142691655 G C rs111589388 ADGRG6 Nonsynonymous SNV G265A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 22.3 229832 chr6 144768382 144768382 G C rs114697618 UTRN Nonsynonymous SNV E550D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 229833 chr8 25279138 25279138 C T rs765242446 GNRH1 Nonsynonymous SNV C67Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 229834 chr19 12985318 12985318 G T rs371185312 MAST1 Synonymous SNV V1449V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.006 229835 chr18 40323610 40323610 A T RIT2 Nonsynonymous SNV F168I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.38 229836 chr2 179431380 179431380 A G TTN Synonymous SNV N17428N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.502 229837 chr14 99983482 99983482 G T rs534603051 CCDC85C Synonymous SNV P338P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.155 229838 chr8 27462725 27462725 C T rs201670453 CLU Nonsynonymous SNV R182H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 229839 chr2 179571644 179571644 C T rs372997298 TTN Synonymous SNV A8449A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.51 229840 chr19 14854326 14854326 C T ADGRE2 Nonsynonymous SNV G732E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 229841 chr15 102389633 102389633 C G rs1018821001 OR4F13P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.264 229842 chr6 151687037 151687037 C T rs373959660 ZBTB2 Synonymous SNV K388K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.94 229843 chr15 24924316 24924316 G A rs146375975 NPAP1 Nonsynonymous SNV G1101D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.057 229844 chr3 129151333 129151333 G C rs764602863 MBD4 Nonsynonymous SNV P560A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.632 229845 chr19 15289863 15289863 G A rs201680145 NOTCH3 Nonsynonymous SNV R1231C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 229846 chr8 52232455 52232455 C T rs369513519 PXDNL Nonsynonymous SNV R1463H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 229847 chr12 11339357 11339357 G T rs137988425 TAS2R42 Nonsynonymous SNV L63M 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 4.975 229848 chr8 52287186 52287186 G A rs755322056 PXDNL Synonymous SNV T1221T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.854 229849 chr8 66647054 66647054 A G PDE7A Nonsynonymous SNV M224T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 229850 chr8 75171672 75171672 G A rs374337935 JPH1 Synonymous SNV C402C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 229851 chr15 42127826 42127826 G A rs146308669 JMJD7, JMJD7-PLA2G4B Synonymous SNV A171A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 229852 chr6 166872948 166872948 C T rs367918929 RPS6KA2 Nonsynonymous SNV R257Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 229853 chr15 42143286 42143286 G A rs367924416 SPTBN5 Synonymous SNV R3602R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.721 229854 chr3 151163972 151163972 G C rs114582530 IGSF10 Nonsynonymous SNV T1266S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.908 229855 chr15 42293394 42293394 C T rs143966595 PLA2G4E Nonsynonymous SNV V212I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 229856 chr17 78055825 78055825 A C CCDC40 Nonsynonymous SNV I653L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 229857 chr15 43016769 43016769 C T rs368759902 CDAN1 Nonsynonymous SNV E1202K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 229858 chr15 43019869 43019869 C T rs369116219 CDAN1 Nonsynonymous SNV A1016T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 229859 chr15 43622591 43622591 C T rs374230415 LCMT2 Nonsynonymous SNV V33M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 229860 chr15 43818186 43818186 T G rs377400769 MAP1A Nonsynonymous SNV S1505R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.316 229861 chr7 1097866 1097866 G A rs200125664 GPR146 Nonsynonymous SNV V239M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 229862 chr15 45464510 45464510 A G rs145838450 SHF Nonsynonymous SNV F285S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.3 229863 chr19 19330110 19330110 C G rs750535585 NCAN Nonsynonymous SNV P154A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 229864 chr15 50884348 50884348 G A rs199732064 TRPM7 Nonsynonymous SNV P1362S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 229865 chr8 110588094 110588094 G A rs199845687 SYBU Nonsynonymous SNV R215W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.5 229866 chr19 21948538 21948538 A C rs749232573 ZNF100 Synonymous SNV P18P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 229867 chr19 22270783 22270783 G C ZNF257 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.007 229868 chr19 22270793 22270793 A T ZNF257 Nonsynonymous SNV I5F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 229869 chr2 215645471 215645471 G A rs587782333 BARD1 Nonsynonymous SNV S357L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.098 229870 chr15 52575064 52575064 G A rs200628146 MYO5C Nonsynonymous SNV P18L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 229871 chr19 22270982 22270982 A C ZNF257 Nonsynonymous SNV M68L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 229872 chr19 22270984 22270984 G T ZNF257 Nonsynonymous SNV M68I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 229873 chr19 22270985 22270985 T C ZNF257 Nonsynonymous SNV Y69H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.278 229874 chr12 133146731 133146731 C A FBRSL1 Nonsynonymous SNV P304Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.492 229875 chr19 22270994 22270994 G A ZNF257 Nonsynonymous SNV D72N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 229876 chr19 22270997 22270997 A G ZNF257 Nonsynonymous SNV K73E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 229877 chr19 23041085 23041085 A G ZNF723 Synonymous SNV Q464Q 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 0.01 229878 chr15 56683506 56683506 A G rs145215116 TEX9 Nonsynonymous SNV D79G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 229879 chr15 56723585 56723585 C G MNS1 Nonsynonymous SNV G461R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 229880 chr8 124157009 124157009 C T rs757546759 TBC1D31 Nonsynonymous SNV S762F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 229881 chr7 20418858 20418858 C T rs61753133 ITGB8 Synonymous SNV Y191Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.969 229882 chr2 220023049 220023049 T C rs138515231 NHEJ1 Synonymous SNV P12P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.442 229883 chr7 24749889 24749889 C T rs144907090 GSDME Synonymous SNV A108A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 229884 chr19 33793150 33793150 C G CEBPA Nonsynonymous SNV E92D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 8.458 229885 chr19 35486963 35486963 C T GRAMD1A Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.387 229886 chr15 72523303 72523304 TC - PKM E9Tfs*32 0 0 0.003 0 0 0 0 1 0 0 0 0 229887 chr8 143832547 143832547 C T LYPD2 Nonsynonymous SNV V34M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 229888 chr8 144649794 144649794 G C MROH6 Nonsynonymous SNV D640E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 229889 chr8 144651746 144651746 G C MROH6 Synonymous SNV G447G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.533 229890 chr15 76301577 76301577 C A rs201119503 NRG4 Nonsynonymous SNV C23F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 229891 chr15 77407188 77407188 T C rs143178260 PEAK1 Synonymous SNV L1517L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 229892 chr19 36545955 36545955 C T rs200283315 WDR62 Nonsynonymous SNV R28W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 33 229893 chr2 232393025 232393025 G A rs373556272 NMUR1 Nonsynonymous SNV A236V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.7 229894 chr8 145001795 145001795 C A PLEC Nonsynonymous SNV R1166L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 229895 chr9 5720302 5720302 A G RIC1 Synonymous SNV S187S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.373 229896 chr8 145581422 145581422 C T FBXL6 Stop gain W147X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 229897 chr8 145621587 145621587 G A rs144605838 CPSF1 Synonymous SNV R985R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.748 229898 chr12 48596842 48596842 G A rs980488875 OR10AD1 Synonymous SNV T78T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.266 229899 chr15 86283494 86283494 C T rs116625624 AKAP13 Synonymous SNV S1154S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 229900 chr8 145726667 145726667 C T PPP1R16A Nonsynonymous SNV P398L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.124 229901 chr2 237395536 237395536 C T rs756793780 IQCA1 Nonsynonymous SNV R219Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 229902 chr15 89386648 89386648 C T rs369870175 ACAN Nonsynonymous SNV R274W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.5 229903 chr15 89869919 89869919 G A rs2307447 POLG Nonsynonymous SNV R546C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 26.6 229904 chr19 38991552 38991552 C T rs368560744 RYR1 Synonymous SNV I2512I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.04 229905 chr15 90246213 90246213 C A rs16974173 WDR93 Synonymous SNV S112S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 229906 chr15 90281348 90281348 C T rs35004736 WDR93 Synonymous SNV A586A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 229907 chr19 1785597 1785597 G A rs762605815 ATP8B3 Synonymous SNV T1051T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.065 229908 chr9 93650120 93650120 - T SYK Frameshift insertion G536Wfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 229909 chr2 242066606 242066606 C T rs373515430 PASK Nonsynonymous SNV R575Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.096 229910 chr9 21077522 21077522 A T IFNB1 Nonsynonymous SNV I116K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.099 229911 chr7 81637025 81637025 G A rs771969809 CACNA2D1 Synonymous SNV T470T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.38 229912 chr7 82582767 82582767 T A PCLO Nonsynonymous SNV H2501L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.14 229913 chr2 24344081 24344081 T C PFN4 Synonymous SNV K69K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.322 229914 chr19 4199690 4199690 - C ANKRD24 Frameshift insertion T18Hfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 229915 chr9 32631196 32631196 C T rs777816674 TAF1L Nonsynonymous SNV R1461Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 229916 chr9 33466700 33466700 C G rs770387061 NOL6 Nonsynonymous SNV S653T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 229917 chr19 21948589 21948589 - A ZNF100 0 0.003 0 0 0 1 0 0 0 0 0 0 229918 chr19 21948590 21948590 - TTCTAGGCTTCTAGGGGGTCCTGGCGTCTTAGCTGTGGATCTCCCAATAGCTGCAGGTCAGAGGGCC ZNF100 0 0.003 0 0 0 1 0 0 0 0 0 0 229919 chr12 56818860 56818860 C T rs376768006 TIMELESS Nonsynonymous SNV S551N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.626 229920 chr9 37919860 37919860 C T rs369304644 SHB Synonymous SNV E496E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.37 229921 chr7 99768886 99768886 G A GPC2 Nonsynonymous SNV A495V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.129 229922 chr19 3162907 3162907 C T rs1028072297 GNA15 Nonsynonymous SNV L339F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 229923 chr12 57488470 57488470 G T NAB2 Nonsynonymous SNV S451I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 229924 chr16 1877764 1877764 G T rs754205563 FAHD1 Nonsynonymous SNV K178N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 229925 chr9 73151304 73151304 C T rs138910787 TRPM3 Synonymous SNV A1400A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.195 229926 chr19 44681795 44681795 G T rs201830106 ZNF226 Stop gain E794X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 41 229927 chr2 3691583 3691583 G A rs201597655 COLEC11 Nonsynonymous SNV G157S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 229928 chr16 2147409 2147409 C T rs138546384 PKD1 Nonsynonymous SNV R3438Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 229929 chr19 4512779 4512779 C T PLIN4 Nonsynonymous SNV G398D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 229930 chr19 45259587 45259587 A G rs772518779 BCL3 Nonsynonymous SNV N170S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 229931 chr16 2820429 2820429 C T rs116681042 SRRM2 Nonsynonymous SNV R2700C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.42 229932 chr16 28331630 28331630 G A rs774112761 SBK1 Synonymous SNV Q221Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.747 229933 chr9 97563194 97563194 C T AOPEP Nonsynonymous SNV S425L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 229934 chr12 72022708 72022708 T C rs193064257 ZFC3H1 Synonymous SNV P1312P 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 Benign 6.815 229935 chr16 30581469 30581469 C G rs755574792 ZNF688 Nonsynonymous SNV S186T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 229936 chr4 71275677 71275677 G A rs369329579 OPRPN Nonsynonymous SNV R211H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.11 229937 chrX 43603382 43603382 C T rs762042526 MAOA Synonymous SNV T467T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.78 229938 chr2 64806670 64806670 C T rs139710782 AFTPH Synonymous SNV N815N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.06 229939 chr4 77660170 77660170 C T rs776605073 SHROOM3 Nonsynonymous SNV R282C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.23 229940 chrX 66765167 66765167 - GCAGCA AR Q80_E81insQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 229941 chr16 3729770 3729770 G C rs151231225 TRAP1 Nonsynonymous SNV Q112E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.56 229942 chr16 4557780 4557780 C G HMOX2 Nonsynonymous SNV H62D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 229943 chr7 107756519 107756519 G A rs140462508 LAMB4 Nonsynonymous SNV T41M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 229944 chr2 71365670 71365670 G A rs756617224 MPHOSPH10 Synonymous SNV P383P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.56 229945 chr9 113490981 113490981 C T rs781602891 MUSK Synonymous SNV P214P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 229946 chr2 71740907 71740907 C T DYSF Synonymous SNV F174F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 229947 chr9 114820950 114820950 C T SUSD1 Nonsynonymous SNV V623M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 229948 chr7 117359689 117359689 A G rs144520488 CTTNBP2 Nonsynonymous SNV S1487P 0 0 0 1 0 0 0.003 0 0 0 0 0 22 229949 chr19 50311700 50311700 G T rs118120813 FUZ Nonsynonymous SNV T299N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.82 229950 chr16 4908002 4908002 G A UBN1 Synonymous SNV L87L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 229951 chr16 4933875 4933875 C T rs140342271 PPL Nonsynonymous SNV R1594Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.998 229952 chr2 74709054 74709054 T C rs138040614 CCDC142 Nonsynonymous SNV Q304R 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 16.16 229953 chr19 50666070 50666070 T A rs781453956 IZUMO2 Nonsynonymous SNV E78V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 229954 chr19 40875909 40875909 C T rs780604999 PLD3 Nonsynonymous SNV A175V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.96 229955 chr7 127223283 127223283 G A rs75885260 GCC1 Synonymous SNV S371S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.283 229956 chr7 127231302 127231302 A C rs77229708 ARF5 Synonymous SNV T164T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.034 229957 chr7 127235865 127235865 A G rs79861974 FSCN3 Nonsynonymous SNV M217V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.6 229958 chr16 55360443 55360443 G A rs375788024 IRX6 Nonsynonymous SNV A81T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 229959 chr19 16860480 16860480 C T rs769386699 NWD1 Nonsynonymous SNV P137S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.404 229960 chr7 128482965 128482965 C A rs199652368 FLNC Nonsynonymous SNV P836Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25.4 229961 chr10 102783774 102783774 G A rs757518712 PDZD7 Nonsynonymous SNV P93L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.16 229962 chr19 42838350 42838350 C T rs776522130 MEGF8 Synonymous SNV H181H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 10.75 229963 chr9 125377798 125377798 G A rs368242898 OR1Q1 Nonsynonymous SNV R261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 229964 chr7 133502299 133502299 T C EXOC4 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 229965 chr16 58071456 58071456 G A rs377011147 MMP15 Synonymous SNV S81S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.711 229966 chr16 601326 601326 C T rs146637756 CAPN15 Synonymous SNV G697G 0 0 0.01 2 0 0 0.005 3 0 0 0 0 10.97 229967 chr4 115891618 115891618 C G rs146914576 NDST4 Nonsynonymous SNV E397Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 229968 chr16 68269586 68269586 C T rs767266315 ESRP2 Nonsynonymous SNV S93N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 229969 chr19 17988553 17988553 C T SLC5A5 Synonymous SNV S240S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 13.2 229970 chr19 52537973 52537973 C G ZNF432 Nonsynonymous SNV S320T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 229971 chr19 52729000 52729000 A G rs138066943 PPP2R1A Synonymous SNV L385L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.725 229972 chr19 53085647 53085647 T C rs564420037 ZNF701 Nonsynonymous SNV L112P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 229973 chr13 21303226 21303226 C A rs751788873 EEF1AKMT1 Nonsynonymous SNV G213V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 229974 chr7 141424854 141424854 T C rs746796839 WEE2 Nonsynonymous SNV I417T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 229975 chr19 53086675 53086675 C T rs444172 ZNF701 Nonsynonymous SNV R455C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.595 229976 chr9 131030410 131030410 G A rs768416244 GOLGA2 Synonymous SNV L102L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.78 229977 chr16 72055159 72055159 C T rs779915805 DHODH Synonymous SNV A218A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 229978 chr16 72057530 72057530 G A DHODH Synonymous SNV L377L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 229979 chr10 120907359 120907359 G A rs747282264 SFXN4 Nonsynonymous SNV T249M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 229980 chr9 131745252 131745252 T C rs61749217 NUP188 Nonsynonymous SNV S581P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 229981 chr9 132374629 132374629 C T rs148611877 C9orf50 Synonymous SNV R431R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.43 229982 chr3 112358473 112358473 G A rs771667652 CCDC80 Nonsynonymous SNV R94C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.81 229983 chr9 132571697 132571697 A G rs758275865 TOR1B Synonymous SNV R282R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.787 229984 chr4 152049462 152049462 G A SH3D19 Nonsynonymous SNV T614I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 229985 chr4 153691316 153691316 G A rs34696355 TIGD4 Stop gain R281X 0.002 0 0.007 0 2 0 0 2 0 0 0 0 35 229986 chr19 45349784 45349784 T C NECTIN2 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 229987 chr10 124921868 124921868 T C BUB3 Synonymous SNV I231I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.16 229988 chr9 134396854 134396854 C T POMT1 Nonsynonymous SNV P455L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 229989 chr10 126205785 126205785 G A rs538187592 LHPP Nonsynonymous SNV G221S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 32 229990 chr7 150094100 150094100 C G rs371575884 ZNF775 Nonsynonymous SNV H177Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.7 229991 chr4 164272465 164272465 T C NPY5R Nonsynonymous SNV V347A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 229992 chr19 55481530 55481530 G A rs200815567 NLRP2 Synonymous SNV K49K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.202 229993 chr4 169633039 169633039 T C PALLD Synonymous SNV T261T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.281 229994 chr9 137666727 137666727 C T rs760539229 COL5A1 Nonsynonymous SNV P785L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 229995 chr16 86601568 86601568 G A rs199935844 FOXC2 Synonymous SNV K209K 0 0 0.007 0 0 0 0 2 0 0 0 0 1.228 229996 chr19 55828220 55828220 C T rs773129407 TMEM150B Nonsynonymous SNV G147R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 229997 chr19 49166741 49166741 T C rs150324611 NTN5 Nonsynonymous SNV R362G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.9 229998 chr8 399990 399990 C G rs192055132 FBXO25 Nonsynonymous SNV L61V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 229999 chr3 126261356 126261356 G A rs766098235 CHST13 Nonsynonymous SNV D321N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 230000 chr10 16979593 16979593 G A rs41289303 CUBN Nonsynonymous SNV P1975L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 21.6 230001 chr9 139409775 139409775 C T rs201077220 NOTCH1 Nonsynonymous SNV G661S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 Uncertain significance 22.6 230002 chr19 49842024 49842024 C T rs767573534 CD37 Nonsynonymous SNV S104L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 230003 chr3 128720659 128720659 T C EFCC1 Nonsynonymous SNV F63S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 230004 chr5 7773086 7773086 C T rs373885666 ADCY2 Synonymous SNV S752S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.49 230005 chr13 95886945 95886945 T C rs139097120 ABCC4 Nonsynonymous SNV I150M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.252 230006 chr19 57065936 57065936 C T rs61734808 ZFP28 Synonymous SNV C594C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.999 230007 chr19 57157089 57157089 C G rs751266644 SMIM17 Synonymous SNV T18T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.865 230008 chr9 140352211 140352211 G C NSMF Synonymous SNV P92P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.084 230009 chr19 39915394 39915394 T C rs142315103 PLEKHG2 Synonymous SNV H1148H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.01 230010 chr10 15255130 15255130 C T rs777042970 FAM171A1 Synonymous SNV G819G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.181 230011 chr10 15614231 15614231 A G rs369447612 ITGA8 Synonymous SNV N857N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.027 230012 chr3 149093499 149093499 A G rs142060157 TM4SF1 Nonsynonymous SNV C79R 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 22.4 230013 chr10 17110148 17110148 C T rs199835213 CUBN Nonsynonymous SNV E975K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 230014 chr3 14942550 14942550 C T rs569480097 FGD5 Synonymous SNV N1082N 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 19.08 230015 chr10 23408293 23408293 G A rs370027554 MSRB2 Synonymous SNV T119T 0.003 0 0 0 4 0 0 0 0 0 0 0 14.99 230016 chr10 24832638 24832638 T C KIAA1217 Nonsynonymous SNV I1480T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 230017 chr19 7509127 7509127 C G rs769911618 ARHGEF18 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 230018 chr3 167006715 167006715 C G ZBBX Nonsynonymous SNV V646L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.92 230019 chr17 26972059 26972061 AGA - rs779578927 KIAA0100 F5del 0 0 0.003 0 0 0 0 1 0 0 0 0 230020 chr8 33230240 33230240 C T rs185056122 FUT10 Nonsynonymous SNV R432Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.479 230021 chr17 28295926 28295926 A T EFCAB5 Nonsynonymous SNV E47V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 230022 chr19 54967291 54967291 G T LENG8 Nonsynonymous SNV G391C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 31 230023 chr17 29231277 29231277 T G TEFM Nonsynonymous SNV E101A 0 0 0.003 0 0 0 0 1 0 0 0 0 12 230024 chr19 55045040 55045040 C T rs372931579 KIR3DX1 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 23.6 230025 chr17 32614186 32614186 A G rs140141523 CCL11 Nonsynonymous SNV R50G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 230026 chr8 39442190 39442190 C T rs374893239 ADAM18 Nonsynonymous SNV H17Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.073 230027 chr11 30034200 30034200 T C KCNA4 Nonsynonymous SNV E9G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 230028 chr10 45430157 45430157 A G rs769005475 TMEM72 Nonsynonymous SNV K17E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 230029 chr8 41507943 41507943 C T NKX6-3 Synonymous SNV K23K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.57 230030 chr8 52811617 52811617 C A rs1015740614 PCMTD1 Nonsynonymous SNV G19W 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 230031 chr14 23853739 23853739 C T rs200260229 MYH6 Nonsynonymous SNV G1826D 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 13.14 230032 chr14 23853740 23853740 C T rs202141059 MYH6 Nonsynonymous SNV G1826S 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 10.38 230033 chr3 184144765 184144765 G A LINC02054 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.356 230034 chr10 49931602 49931602 T C rs1019279683 WDFY4 Nonsynonymous SNV M194T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 230035 chr3 184429223 184429223 A G rs765656586 MAGEF1 Synonymous SNV F129F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.8 230036 chr5 89938743 89938743 G A rs370189682 ADGRV1 Nonsynonymous SNV R813Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.833 230037 chr8 74169278 74169279 TT - C8orf89 S71Cfs*10 0 0 0.003 1 0 0 0.003 1 0 0 0 0 230038 chr17 38975307 38975307 - TCC KRT10 G493_S494insG 0 0 0.003 0 0 0 0 1 0 0 0 0 230039 chr10 55587287 55587287 C G PCDH15 Nonsynonymous SNV K1340N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 230040 chr17 38991390 38991390 G C rs780507280 TMEM99 0 0 0.003 0 0 0 0 1 0 0 0 0 0.176 230041 chr5 98204280 98204280 A G rs140515271 CHD1 Synonymous SNV A1389A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 230042 chr10 63957903 63957903 T C rs200719773 RTKN2 Nonsynonymous SNV K532E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 230043 chr17 39506788 39506788 C T rs142389197 KRT33A Nonsynonymous SNV E78K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 230044 chr8 120606025 120606025 G A rs369796903 ENPP2 Nonsynonymous SNV R350W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 230045 chr17 39728051 39728055 CCTCC - KRT9 G64Rfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 230046 chr1 109242044 109242044 A C PRPF38B Nonsynonymous SNV D203A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 230047 chr3 38156511 38156511 C T rs373803738 DLEC1 Stop gain R1278X 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 36 230048 chr8 142264834 142264834 G A rs1010938412 LOC105375787 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.561 230049 chr3 40457524 40457524 G A rs34266806 ENTPD3 Nonsynonymous SNV R264Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.7 230050 chr3 42700747 42700749 GGA - rs558162168 ZBTB47 E307del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 230051 chr10 95552573 95552573 G A LGI1 Nonsynonymous SNV A145T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 230052 chr19 50771555 50771555 C T MYH14 Synonymous SNV R947R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.9 230053 chr17 48431174 48431174 C T rs776115404 XYLT2 Nonsynonymous SNV R107W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 230054 chr10 100177960 100177960 T C rs61873899 HPS1 Nonsynonymous SNV I518V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.341 230055 chr8 144991362 144991362 G A rs372573622 PLEC Synonymous SNV I4195I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.569 230056 chr17 54978811 54978811 G A rs61731984 TRIM25 Synonymous SNV I352I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 12.59 230057 chr8 145583449 145583449 G C rs782591841 SLC52A2 Nonsynonymous SNV W99C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.1 230058 chr10 103908151 103908151 C T rs374050781 PPRC1 Nonsynonymous SNV R1211C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 230059 chr17 55926650 55926650 C T rs149290593 MRPS23 Nonsynonymous SNV A56T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 230060 chr17 56270431 56270431 C A rs147790482 EPX Synonymous SNV R37R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 230061 chr3 47456136 47456136 G A rs779316145 SCAP Nonsynonymous SNV R849C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 35 230062 chr3 48720411 48720411 C T rs368902568 NCKIPSD Nonsynonymous SNV R69Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 230063 chr1 151259119 151259119 G C ZNF687 Nonsynonymous SNV V118L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 230064 chr19 9085960 9085960 G T MUC16 Nonsynonymous SNV T1952N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.173 230065 chr3 49933270 49933270 C T rs750752822 MST1R Nonsynonymous SNV R841Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.827 230066 chr17 6499498 6499498 G T rs73342622 KIAA0753 Nonsynonymous SNV R481S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 230067 chr3 51672202 51672202 A G RAD54L2 Synonymous SNV E575E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.37 230068 chr10 116602741 116602741 A T rs200034948 FAM160B1 Nonsynonymous SNV E191V 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.79 230069 chr3 52181036 52181036 C T rs745977339 POC1A Synonymous SNV R177R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.41 230070 chr11 113286207 113286207 C T rs557036496 DRD2 Nonsynonymous SNV R220H 0.003 0.005 0 0 3 2 0 0 0 0 0 0 35 230071 chr1 154026821 154026821 G A rs748307584 NUP210L Synonymous SNV T1122T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 230072 chr11 116706882 116706882 T G APOA1 Nonsynonymous SNV E149A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 230073 chr9 35076755 35076755 G A rs2237857 FANCG Nonsynonymous SNV T297I 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 Benign/Likely benign 17.84 230074 chr1 155920887 155920887 C T rs373698653 ARHGEF2 Synonymous SNV A812A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 230075 chr1 156220446 156220446 C T rs769289830 SMG5 Nonsynonymous SNV A942T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 230076 chr10 129242461 129242461 G A rs34381953 DOCK1 Synonymous SNV S1777S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.578 230077 chr17 73110836 73110836 G - ARMC7 R83Pfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 230078 chr17 73110837 73110837 C A rs990366541 ARMC7 Synonymous SNV R83R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.649 230079 chr9 37541368 37541368 C T rs752526134 FBXO10 Nonsynonymous SNV R133Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 230080 chr3 66413289 66413289 C G SLC25A26 Synonymous SNV L80L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.511 230081 chr10 134161546 134161546 G T LRRC27 Nonsynonymous SNV L77F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 230082 chr3 70014307 70014307 G A MITF Nonsynonymous SNV D390N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.6 230083 chr10 134699380 134699380 C T rs531957997 CFAP46 Nonsynonymous SNV G1130S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 230084 chr15 42106923 42106923 G A rs75869993 MAPKBP1 Nonsynonymous SNV V386I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 25.2 230085 chr1 114445409 114445409 G A AP4B1 Synonymous SNV V63V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.711 230086 chr15 42134468 42134468 G A rs141857655 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV T233T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.36 230087 chr11 123676367 123676367 G C rs778170262 OR6M1 Nonsynonymous SNV R231G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 230088 chr1 158639278 158639278 G T rs368469337 SPTA1 Nonsynonymous SNV Q585K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 230089 chr17 75190986 75190986 C G SEC14L1 Synonymous SNV T200T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 230090 chr11 123908839 123908839 T C rs143478590 OR10G7 Synonymous SNV R290R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 230091 chr15 42622786 42622791 GCAGAA - GANC A553_E554del 0 0 0 1 0 0 0.003 0 0 0 0 0 230092 chr15 42652165 42652165 C T rs527776745 CAPN3 Synonymous SNV I54I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.24 230093 chr1 158735945 158735945 G A rs138618527 OR6N1 Synonymous SNV H176H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.916 230094 chr9 87635198 87635198 C T rs369724047 NTRK2 Synonymous SNV S722S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 230095 chr9 93650908 93650908 G A rs761206068 SYK Nonsynonymous SNV D589N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 230096 chr9 96024211 96024211 C T rs773337451 WNK2 Nonsynonymous SNV A1061V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.533 230097 chr1 161092201 161092201 C T DEDD Synonymous SNV Q231Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.783 230098 chr11 558168 558168 G T LMNTD2 Nonsynonymous SNV A131D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 230099 chr4 1016143 1016143 C T rs760242543 FGFRL1 Nonsynonymous SNV R78C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 230100 chr1 12463915 12463915 A G VPS13D Synonymous SNV T3948T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.708 230101 chr1 162343972 162343972 - G rs768281832 SPATA46 Frameshift insertion K218Qfs*28 0.001 0 0.003 0 1 0 0 1 0 0 0 0 230102 chr6 16327882 16327882 - TGC ATXN1 Q225_H226insQ 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 230103 chr6 17629284 17629284 T C rs150448927 NUP153 Nonsynonymous SNV N1007S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 230104 chr9 101765841 101765841 C T rs10988532 COL15A1 Nonsynonymous SNV T391M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.615 230105 chr17 79966911 79966925 AGCCCGTGGACCGGG - rs372283666 ASPSCR1 P235Sfs*32 0 0 0.003 0 0 0 0 1 0 0 0 0 230106 chr1 167944083 167944083 C T rs543895185 DCAF6 Nonsynonymous SNV R59C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 230107 chr17 80046064 80046064 G C rs748146850 FASN Nonsynonymous SNV L905V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 230108 chr9 107560784 107560784 C T rs150125857 ABCA1 Nonsynonymous SNV R1680Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 35 230109 chr11 88911521 88911521 T - TYR F135Lfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 230110 chr6 26235128 26235128 G A rs376631713 H1-3 Nonsynonymous SNV P12S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 230111 chr17 8167533 8167533 G A rs751345596 PFAS Nonsynonymous SNV V599M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 230112 chr17 8192277 8192277 C T rs3809740 RANGRF Synonymous SNV D27D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.07 230113 chr17 8222199 8222199 C T rs142705439 ARHGEF15 Synonymous SNV S668S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.84 230114 chr15 66599203 66599203 A G rs371307637 DIS3L Nonsynonymous SNV H112R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.34 230115 chr18 12115415 12115415 G A rs139193046 ANKRD62 Synonymous SNV T374T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.516 230116 chr18 21530075 21530075 C T rs879842580 LAMA3 Synonymous SNV I1533I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 230117 chr18 21946887 21946887 G A rs574476197 OSBPL1A Nonsynonymous SNV P84L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 230118 chr4 139937263 139937263 C T rs936098728 NOCT Nonsynonymous SNV S43F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.23 230119 chr4 144620896 144620896 G A rs183228561 FREM3 Synonymous SNV A311A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.24 230120 chr19 8161825 8161825 C T rs149549572 FBN3 Nonsynonymous SNV G1785S 0.006 0.003 0 0 7 1 0 0 0 0 0 0 Likely benign 27.8 230121 chr18 28991222 28991222 G A rs74755361 DSG4 Synonymous SNV G741G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.118 230122 chr11 1491427 1491427 G A rs200771049 MOB2 Nonsynonymous SNV A261V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 230123 chr18 29055856 29055856 G T rs199891567 DSG3 Nonsynonymous SNV G878V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.67 230124 chr11 1769021 1769021 G A rs924564375 IFITM10 Nonsynonymous SNV T138M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 230125 chr4 154510043 154510043 A G rs142747090 TMEM131L Synonymous SNV G518G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.16 230126 chr4 155156272 155156272 C G DCHS2 Nonsynonymous SNV A3178P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 230127 chr19 8668698 8668698 C T rs151257275 ADAMTS10 Nonsynonymous SNV R169Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 13.18 230128 chr6 39159416 39159416 C A KCNK5 Synonymous SNV V250V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 230129 chr11 25004813 25004813 C G rs145329776 LUZP2 Nonsynonymous SNV L205V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 230130 chr1 186324848 186324848 T C rs41308409 TPR Synonymous SNV T647T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.476 230131 chr18 47811422 47811422 G A rs1010668074 CXXC1 Nonsynonymous SNV P288S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 230132 chr11 32955936 32955936 T C rs139756945 QSER1 Synonymous SNV N1044N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.894 230133 chr11 4944998 4944998 C A OR51G1 Nonsynonymous SNV C191F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 230134 chr18 55315732 55315732 G T rs2271771 ATP8B1 Synonymous SNV T1198T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.591 230135 chr18 55317653 55317653 G A rs117182648 ATP8B1 Synonymous SNV P1109P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.49 230136 chr1 192779314 192779314 C T rs753347945 RGS2 Synonymous SNV T43T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 230137 chr18 55342156 55342156 T C rs3745078 ATP8B1 Nonsynonymous SNV I527V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.217 230138 chr9 131117727 131117727 A G SLC27A4 Nonsynonymous SNV T505A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 230139 chr18 55373767 55373767 G C rs3745079 ATP8B1 Nonsynonymous SNV H78Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 230140 chr6 50740480 50740480 C T rs376933913 TFAP2D Nonsynonymous SNV A421V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.81 230141 chr9 132381848 132381848 G A rs76476617 C9orf50 Nonsynonymous SNV P223S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 230142 chr18 61026985 61026985 G C rs376059349 KDSR Nonsynonymous SNV S80C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.3 230143 chr9 134074183 134074183 A G rs776277309 NUP214 Nonsynonymous SNV S594G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 230144 chr6 65767617 65767617 G A rs199944222 EYS Nonsynonymous SNV T676M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.131 230145 chr18 72168607 72168607 C T rs151185140 CNDP2 Nonsynonymous SNV P35L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23.4 230146 chr1 203134340 203134340 C T rs139893335 ADORA1 Nonsynonymous SNV S30L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.559 230147 chr4 2701799 2701799 C T rs142901602 FAM193A Synonymous SNV V1009V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.652 230148 chr16 14676087 14676087 G A rs978508693 PARN Synonymous SNV Y335Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.981 230149 chr9 138594195 138594195 G T KCNT1 Nonsynonymous SNV D31Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23 230150 chr9 139272274 139272274 - C rs756034307 SNAPC4 Frameshift insertion E1336Rfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 230151 chr16 15703406 15703406 A G rs904400546 MARF1 Nonsynonymous SNV F1310L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 230152 chr9 139699990 139699990 G A CCDC183-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.652 230153 chr1 208206738 208206738 C T rs141503079 PLXNA2 Nonsynonymous SNV G1661S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 230154 chr11 7950088 7950088 C T rs775367089 OR10A6 Nonsynonymous SNV G41E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 230155 chr11 8948552 8948552 G C rs368696678 C11orf16 Nonsynonymous SNV P165R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 230156 chr16 21995768 21995768 G A rs762292445 PDZD9 Synonymous SNV D145D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.552 230157 chr10 1060247 1060247 G A rs371086898 GTPBP4 Nonsynonymous SNV D535N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.43 230158 chr19 11508197 11508197 G A rs750883806 RGL3 Nonsynonymous SNV A608V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 230159 chr4 52926666 52926666 A T rs146015590 SPATA18 Nonsynonymous SNV I57F 0.005 0 0 1 6 0 0.003 0 0 0 0 0 25.8 230160 chr19 12792507 12792507 G A rs752294892 DHPS Nonsynonymous SNV P25L 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 230161 chr4 53728794 53728794 C A rs371815568 RASL11B Synonymous SNV G40G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 230162 chr19 13011382 13011382 G A SYCE2 Synonymous SNV L129L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.17 230163 chr19 13183905 13183905 A G rs772764812 NFIX Nonsynonymous SNV I201V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 230164 chr10 7780654 7780654 C G rs146607033 ITIH2 Synonymous SNV P676P 0 0 0 2 0 0 0.005 0 0 0 0 0 7.883 230165 chr10 7844359 7844359 C T rs769626270 ATP5F1C Nonsynonymous SNV T208I 0 0 0 1 0 0 0.003 0 0 0 0 0 25 230166 chr16 29675705 29675705 G T rs375589202 SPN Nonsynonymous SNV S219I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 230167 chr19 15272376 15272376 C G NOTCH3 Synonymous SNV V2021V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.938 230168 chr10 13698703 13698703 G A rs370459275 FRMD4A Synonymous SNV S653S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.903 230169 chr1 228456256 228456256 G A rs532836722 OBSCN Synonymous SNV E1629E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.59 230170 chr1 200968527 200968527 G A rs779310643 KIF21B Nonsynonymous SNV S612L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 230171 chr6 144782448 144782448 C A rs371957813 UTRN Synonymous SNV A941A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 230172 chr10 17632422 17632422 T C HACD1 Nonsynonymous SNV M270V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 230173 chr19 1621153 1621153 G A rs372150270 TCF3 Synonymous SNV A331A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.707 230174 chr19 1621905 1621905 G T rs368778918 TCF3 Nonsynonymous SNV A296D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 230175 chr1 231131554 231131554 G A rs773231288 ARV1 Nonsynonymous SNV R166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.611 230176 chr19 16514569 16514569 T C rs149545861 EPS15L1 Nonsynonymous SNV K534R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.987 230177 chr16 31341210 31341210 A G ITGAM Nonsynonymous SNV Q987R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 230178 chr4 71555166 71555166 C T rs760321355 UTP3 Nonsynonymous SNV P258S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.349 230179 chr6 151687197 151687197 G A rs146906788 ZBTB2 Nonsynonymous SNV S335L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.7 230180 chr19 17311515 17311515 G T MYO9B Synonymous SNV G1480G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.372 230181 chr1 153520821 153520821 C T rs774205228 S100A3 Synonymous SNV P47P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.66 230182 chr10 27529249 27529249 A G ACBD5 Synonymous SNV N58N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.17 230183 chr19 17837465 17837465 C T rs374990186 MAP1S Synonymous SNV G398G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 8.507 230184 chr1 23857189 23857189 T C rs35749763 E2F2 Nonsynonymous SNV S33G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.35 230185 chr1 240071655 240071655 C T rs200967479 CHRM3 Nonsynonymous SNV R302C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 230186 chr1 240492387 240492387 A G FMN2 Synonymous SNV S716S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.795 230187 chr1 154995909 154995909 C T rs147505393 DCST2 Nonsynonymous SNV R632H 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 23.7 230188 chr6 157714018 157714018 C T rs782818794 TMEM242 Nonsynonymous SNV R114Q 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.7 230189 chr1 155218028 155218028 C T FAM189B Nonsynonymous SNV R453Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.9 230190 chr11 47397200 47397200 A G rs189217391 SPI1 Synonymous SNV D43D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.263 230191 chr10 43615532 43615532 G A rs145170911 RET Nonsynonymous SNV V617I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28 230192 chr19 22783074 22783074 C T rs149586798 GOLGA2P9 0 0 0.024 0 0 0 0 7 0 0 0 0 4.654 230193 chr19 24115268 24115268 G A rs577176051 ZNF726 Nonsynonymous SNV C117Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 230194 chr16 58550552 58550552 T G SETD6 Nonsynonymous SNV L216R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 230195 chr10 61832585 61832585 C T rs750585326 ANK3 Nonsynonymous SNV S2685N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 230196 chr5 114860088 114860088 C T FEM1C Nonsynonymous SNV A591T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 230197 chr10 73044596 73044596 C T rs141063931 UNC5B Nonsynonymous SNV R142C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 230198 chr10 73111532 73111532 G A rs16928737 SLC29A3 Synonymous SNV Q199Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 1.788 230199 chr5 126860224 126860224 G A rs369163850 PRRC1 Synonymous SNV A35A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.15 230200 chr1 3550050 3550050 G A rs759565731 WRAP73 Synonymous SNV A278A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 230201 chr19 3980643 3980643 G A rs143237258 EEF2 Synonymous SNV S405S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.08 230202 chr10 91477466 91477466 A G rs139360783 KIF20B Nonsynonymous SNV S420G 0 0 0 1 0 0 0.003 0 0 0 0 0 25 230203 chr10 100179890 100179890 C T rs762120872 HPS1 Nonsynonymous SNV R470H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 230204 chr19 44470177 44470177 T C rs145791771 ZNF221 Nonsynonymous SNV C175R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 230205 chr10 101639731 101639731 G A rs147752816 DNMBP Nonsynonymous SNV T1094M 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 230206 chr1 1897960 1897960 G A rs61734009 CFAP74 Synonymous SNV Y417Y 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 0.041 230207 chr1 190067768 190067768 T C rs779877749 BRINP3 Nonsynonymous SNV K459E 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.3 230208 chr16 89256832 89256832 G C rs745707106 CDH15 Nonsynonymous SNV G387A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.3 230209 chr16 89347363 89347363 C A ANKRD11 Nonsynonymous SNV D1863Y 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 24 230210 chr10 103454358 103454360 CCT - rs780365225 FBXW4 E168del 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 230211 chr1 19505623 19505623 C T rs774960335 UBR4 Nonsynonymous SNV R759H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.8 230212 chr1 46654920 46654920 C T rs374145749 POMGNT1 Nonsynonymous SNV G660E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 230213 chr5 14488224 14488224 G T rs375694147 TRIO Nonsynonymous SNV R2496L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.33 230214 chr10 105330852 105330852 C T rs148226017 NEURL1 Synonymous SNV Y103Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.15 230215 chr11 64662633 64662633 G A ATG2A Nonsynonymous SNV H1869Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 230216 chr10 112572188 112572188 A C RBM20 Nonsynonymous SNV H678P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.95 230217 chr19 45381749 45381751 GAG - rs558397688 NECTIN2 E445del 0 0 0.003 0 0 0 0 1 0 0 0 0 230218 chr19 45852121 45852121 G A rs534721284 KLC3 Nonsynonymous SNV R304H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 230219 chr11 71152379 71152379 A C rs886044698 DHCR7 Nonsynonymous SNV F174V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 17.09 230220 chr1 55183258 55183258 A G rs746300832 TTC4 Nonsynonymous SNV K108R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 230221 chr7 73638987 73638987 C T rs202072541 LAT2 Nonsynonymous SNV A216V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 21.1 230222 chr10 120900817 120900817 A G SFXN4 Synonymous SNV S317S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 230223 chr1 203452553 203452553 C T rs150506217 PRELP Nonsynonymous SNV P81S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.401 230224 chr1 203741217 203741217 T C rs139441918 LAX1 Nonsynonymous SNV M95T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.002 230225 chr19 4839264 4839264 C T rs200264546 PLIN3 Synonymous SNV T414T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 230226 chr17 21102036 21102036 A G rs201549323 TMEM11 Synonymous SNV I60I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2 230227 chr10 127548438 127548438 C G rs368470851 DHX32 Nonsynonymous SNV D195H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 230228 chr10 127753439 127753439 G A rs139774996 ADAM12 Synonymous SNV D515D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.818 230229 chr1 66083694 66083694 G A rs150936702 LEPR Nonsynonymous SNV V754M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.9 230230 chr1 207504537 207504537 C T rs566298946 CD55 Nonsynonymous SNV T250M 0.005 0.005 0 0 6 2 0 0 0 0 0 0 23.3 230231 chr1 67838446 67838446 A G rs779532305 IL12RB2 Nonsynonymous SNV N566S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 230232 chr1 208390803 208390803 C T rs757405819 PLXNA2 Synonymous SNV K155K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.1 230233 chr10 134161525 134161525 C A rs148321836 LRRC27 Synonymous SNV L70L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.24 230234 chr10 134188717 134188717 G A LRRC27 Nonsynonymous SNV E522K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 230235 chr10 134686302 134686302 G A rs950640282 CFAP46 Synonymous SNV H1463H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.898 230236 chr5 176965035 176965037 GAG - FAM193B S185del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 230237 chr1 220387198 220387198 G A rs368861572 RAB3GAP2 Nonsynonymous SNV P102S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.66 230238 chr10 135170187 135170187 A G rs149237884 FUOM Nonsynonymous SNV V71A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 230239 chr12 124297973 124297973 G A rs138151312 DNAH10 Nonsynonymous SNV C1018Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Likely benign 9.991 230240 chr17 31618738 31618738 G T rs200451820 ASIC2 Synonymous SNV A132A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.19 230241 chr12 124416650 124416650 T C rs144503939 DNAH10 Synonymous SNV L4313L 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 0.144 230242 chr1 40874328 40874328 A T SMAP2 Star tloss M51L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 230243 chr11 89177399 89177399 G C rs761703750 NOX4 Synonymous SNV G92G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 230244 chr17 34171987 34171987 C G TAF15 Nonsynonymous SNV R559G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.62 230245 chr11 626932 626932 G A SCT Synonymous SNV G43G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.336 230246 chr1 225562529 225562529 T C rs199565083 DNAH14 Nonsynonymous SNV L4153P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 26 230247 chr19 52327584 52327584 A T rs763510705 FPR3 Nonsynonymous SNV I195F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.539 230248 chr12 101711431 101711431 G A UTP20 Nonsynonymous SNV A910T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 230249 chr12 103249093 103249093 C A rs74486803 PAH Nonsynonymous SNV R176L 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 23.8 230250 chr11 101953818 101953818 G A rs544475974 CFAP300 Nonsynonymous SNV C207Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 230251 chr1 94337637 94337637 C A DNTTIP2 Nonsynonymous SNV K686N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 230252 chr1 228346058 228346058 G A rs747380067 GJC2 Nonsynonymous SNV G200E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 23.2 230253 chr17 38182541 38182541 A T MED24 Nonsynonymous SNV V605E 0 0 0 1 0 0 0.003 0 0 0 0 0 31 230254 chr1 228437866 228437866 G A rs773358809 OBSCN Nonsynonymous SNV A1412T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 230255 chr1 985075 985075 C T rs752280977 AGRN Synonymous SNV C1548C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 230256 chr19 54485440 54485440 C T rs200934814 CACNG8 Synonymous SNV S205S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 230257 chr19 54600443 54600443 C G OSCAR Nonsynonymous SNV A16P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 230258 chr7 100681126 100681126 T C rs376685170 MUC17 Synonymous SNV P2143P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.091 230259 chr19 55497522 55497522 C A NLRP2 Nonsynonymous SNV F713L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.887 230260 chr11 117062667 117062667 C T rs150999695 SIDT2 Synonymous SNV N603N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.02 230261 chr1 233489625 233489625 T G rs138487434 MAP3K21 Synonymous SNV A353A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.286 230262 chr5 65473431 65473431 G A rs764951345 SREK1 Nonsynonymous SNV S557N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 230263 chr12 1137529 1137529 C T ERC1 Synonymous SNV L154L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.828 230264 chr1 235969473 235969473 C T rs150953050 LYST Nonsynonymous SNV R988Q 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Uncertain significance 1.747 230265 chr12 121598715 121598715 G A rs201668926 P2RX7 Nonsynonymous SNV R125H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 25.4 230266 chr19 56424323 56424323 A C rs147819247 NLRP13 Nonsynonymous SNV L287W 0 0 0.003 0 0 0 0 1 0 0 0 0 1.759 230267 chr1 237802343 237802343 C T rs768367111 RYR2 Synonymous SNV V2319V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Likely benign 13.61 230268 chr17 42335104 42335104 C T rs773546206 SLC4A1 Nonsynonymous SNV A452T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 230269 chr17 42338094 42338096 CTC - rs774121522 SLC4A1 E86del 0 0 0 1 0 0 0.003 0 0 0 0 0 230270 chr17 42478610 42478610 C T rs199499631 GPATCH8 Nonsynonymous SNV A201T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.355 230271 chr1 2436408 2436408 G A rs374511532 PLCH2 Nonsynonymous SNV R1336Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.759 230272 chr7 138487701 138487701 G A rs201459325 TMEM213 Nonsynonymous SNV G71S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 33 230273 chr17 43003847 43003847 C A KIF18B Nonsynonymous SNV R808L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 230274 chr17 43010136 43010136 G A rs374158047 KIF18B Synonymous SNV A381A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.944 230275 chr5 79028015 79028015 A G rs764310921 CMYA5 Nonsynonymous SNV S1143G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.075 230276 chr19 579549 579549 C T rs369839342 BSG Synonymous SNV L39L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.983 230277 chr5 79968573 79968573 A T rs746243211 MSH3 Nonsynonymous SNV K308M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 230278 chr19 58864192 58864192 G A rs908267408 A1BG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.79 230279 chr20 33502162 33502162 C T rs61014667 ACSS2 Synonymous SNV H252H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.81 230280 chr11 128838936 128838936 C T rs112106627 ARHGAP32 Nonsynonymous SNV G1695S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.63 230281 chr5 89692309 89692309 C G CETN3 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.637 230282 chr11 5424248 5424248 C G rs141205183 OR51J1 Nonsynonymous SNV T141S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 230283 chr19 758201 758201 C T rs149461817 MISP Nonsynonymous SNV R419C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 230284 chr7 151478508 151478508 G A rs764915841 PRKAG2 Nonsynonymous SNV P22S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.47 230285 chr12 6680171 6680171 C T rs763763367 CHD4 Nonsynonymous SNV S1855N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 230286 chr17 55752389 55752389 G A rs116924898 MSI2 Nonsynonymous SNV A279T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 230287 chr6 117198661 117198661 G C rs201996097 RFX6 Nonsynonymous SNV E75Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 22.8 230288 chr11 6291958 6291958 T C rs936879432 CCKBR Nonsynonymous SNV Y162H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 230289 chr19 9024839 9024839 - CTGTTC rs751862709 MUC16 N12340_S12341insRN 0 0 0.003 0 0 0 0 1 0 0 0 0 230290 chr6 121600355 121600355 T C rs753257342 TBC1D32 Nonsynonymous SNV I549V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.894 230291 chr12 10066275 10066275 C G rs115598241 CLEC2A Nonsynonymous SNV E139Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.734 230292 chr19 9065791 9065791 C A rs766622637 MUC16 Stop gain E7219X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 230293 chr19 9065796 9065796 G A rs139839363 MUC16 Nonsynonymous SNV T7217I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 230294 chr20 54934202 54934202 C G FAM210B Nonsynonymous SNV D47E 0.002 0 0 0 2 0 0 0 1 0 0 0 15.83 230295 chr12 10271133 10271133 A C rs16910527 CLEC7A Nonsynonymous SNV D137E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.2 230296 chr20 54934216 54934216 G A FAM210B Nonsynonymous SNV R52H 0.002 0 0 0 2 0 0 0 1 0 0 0 23 230297 chr1 33799862 33799862 G A rs370099521 PHC2 Synonymous SNV T501T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.75 230298 chr12 10978038 10978038 T C rs540722048 TAS2R10 Synonymous SNV L277L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.552 230299 chr11 7091517 7091517 G A rs768515567 NLRP14 Synonymous SNV G992G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 230300 chr1 34006276 34006276 C T rs143264756 CSMD2 Synonymous SNV P3016P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.35 230301 chr11 7570760 7570760 G A rs752182193 PPFIBP2 Synonymous SNV G18G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.79 230302 chr20 58381195 58381195 G T PHACTR3 Nonsynonymous SNV R314M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 230303 chr12 45429860 45429860 G C DBX2 Nonsynonymous SNV F147L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 230304 chr11 9113011 9113011 A G SCUBE2 Nonsynonymous SNV L22P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 230305 chr8 19813362 19813362 G A rs140986245 LPL Synonymous SNV Q262Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.327 230306 chr8 19813515 19813515 G C LPL Synonymous SNV L313L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.12 230307 chr1 103412452 103412452 G T rs144562769 COL11A1 Nonsynonymous SNV P961T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 22.9 230308 chr8 21954013 21954046 AGGCCGAGGTGGGAGGCCCTCTGCGCGCTGGGCC - rs577506980 FAM160B2 K97Ifs*78 0.002 0 0 0 2 0 0 0 0 0 0 0 230309 chr12 20522502 20522502 C T rs759276196 PDE3A Nonsynonymous SNV A95V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 230310 chr1 108185292 108185292 G A rs142820345 VAV3 Synonymous SNV A61A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.875 230311 chr6 147637538 147637538 T C rs148372399 STXBP5 Synonymous SNV C599C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.082 230312 chr20 60967525 60967525 G A rs143762219 CABLES2 Synonymous SNV P337P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 230313 chr11 12371449 12371449 T C rs761628931 MICALCL Synonymous SNV N598N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.316 230314 chr17 72340965 72340965 G A rs34914485 KIF19 Synonymous SNV T216T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.77 230315 chr20 62305397 62305397 G A rs200099775 RTEL1 Synonymous SNV A67A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.548 230316 chr20 62493733 62493733 G T rs200630434 ABHD16B Synonymous SNV L280L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.134 230317 chr20 62595500 62595500 G A rs148117690 ZNF512B Synonymous SNV D468D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.609 230318 chr11 19246275 19246275 T C rs137938238 E2F8 Nonsynonymous SNV N845S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.015 230319 chr1 45293540 45293540 G A rs752642110 PTCH2 Nonsynonymous SNV P678L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 230320 chr12 32135321 32135321 A G rs375195856 RESF1 Nonsynonymous SNV T478A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.913 230321 chr1 45961125 45961125 T C CCDC163 Nonsynonymous SNV T119A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.759 230322 chr8 29923657 29923657 - ATTGCTGCCAAACAAATATCCTAGTATTCCACCAGTTCCCAAGCCTGTCCAGAACCC SARAF 0.001 0 0 0 1 0 0 0 0 0 0 0 230323 chr12 40044126 40044126 G A rs200733049 C12orf40 Nonsynonymous SNV R219Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 230324 chr21 15599518 15599518 A G rs777933611 RBM11 Synonymous SNV Q257Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.77 230325 chr20 3730670 3730670 G A rs867453305 HSPA12B Nonsynonymous SNV R280H 0 0.003 0 0 0 1 0 0 0 0 0 0 26 230326 chr6 162683616 162683616 C G rs144001694 PRKN Nonsynonymous SNV G118A 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Uncertain significance 22.9 230327 chr11 44959782 44959782 G A rs564424905 TP53I11 Nonsynonymous SNV T2M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 230328 chr1 150230578 150230578 G T rs140320147 CA14 Nonsynonymous SNV G19C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 230329 chr20 45797830 45797830 A G rs143610627 EYA2 Nonsynonymous SNV N341S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.8 230330 chr11 48238919 48238919 C T rs750620521 OR4B1 Synonymous SNV A186A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.054 230331 chr1 151110878 151110878 G A SEMA6C Nonsynonymous SNV T154I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 230332 chr12 62972282 62972282 C T rs143056389 MON2 Synonymous SNV V1518V 0 0.005 0 0 0 2 0 0 0 0 0 0 17.02 230333 chr8 104943592 104943592 T C rs764362460 RIMS2 Synonymous SNV Y621Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.373 230334 chr1 155449212 155449212 G C rs371551723 ASH1L Nonsynonymous SNV A1150G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 230335 chr21 46945824 46945824 G A rs149270420 SLC19A1 Synonymous SNV F360F 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.108 230336 chr1 15616150 15616150 G A rs201921509 FHAD1 Nonsynonymous SNV V186I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 230337 chr1 156255322 156255323 CT - rs765174981 TMEM79 P102Rfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 230338 chr12 7288886 7288886 C T CLSTN3 Nonsynonymous SNV P276L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 230339 chr1 158389793 158389793 C T rs137874220 OR10K2 Nonsynonymous SNV M288I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.247 230340 chr12 57486901 57486901 A G rs147286767 NAB2 Nonsynonymous SNV Y400C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 230341 chr1 158390380 158390380 A G rs150834362 OR10K2 Nonsynonymous SNV S93P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24 230342 chr22 18314823 18314823 G A MICAL3 Nonsynonymous SNV P951L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 230343 chr1 158549152 158549152 A G rs16840360 OR10X1 Nonsynonymous SNV F180L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.2 230344 chr1 158622299 158622299 A G rs767718631 SPTA1 Synonymous SNV D1111D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.711 230345 chr22 19967369 19967369 G A rs368928750 ARVCF Synonymous SNV R431R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.489 230346 chr1 158669977 158669977 G C rs423141 OR6K2 Nonsynonymous SNV L156V 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 18.37 230347 chr1 158670426 158670426 C T rs413029 OR6K2 Nonsynonymous SNV R6Q 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 0.272 230348 chr1 158687308 158687308 C T rs151330882 OR6K3 Nonsynonymous SNV V200M 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 25.1 230349 chr12 64178771 64178771 T C rs200213991 RXYLT1 Nonsynonymous SNV I116T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 230350 chr6 38781871 38781871 T C rs764655921 DNAH8 Nonsynonymous SNV I883T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 230351 chr20 62366621 62366621 G C ZGPAT Nonsynonymous SNV G368R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.377 230352 chr12 66346207 66346207 T C rs74097833 HMGA2 Synonymous SNV T118T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.098 230353 chr8 144332512 144332512 G A rs371461508 ZFP41 Nonsynonymous SNV G167R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 230354 chr14 102446219 102446219 A G DYNC1H1 Nonsynonymous SNV K228E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 230355 chr18 3083803 3083803 C T rs749284571 MYOM1 Nonsynonymous SNV V1394I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 230356 chr22 30639774 30639774 A G rs765125614 LIF Nonsynonymous SNV Y159H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 230357 chr21 34922352 34922352 T C SON Nonsynonymous SNV M272T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.881 230358 chr18 44109190 44109190 G A rs201587138 LOXHD1 Stop gain R287X 0 0 0 4 0 0 0.01 0 0 0 0 0 Pathogenic/Likely pathogenic 38 230359 chr22 31740575 31740575 G A rs892631731 PATZ1 Synonymous SNV I338I 0.003 0 0 0 3 0 0 0 0 0 0 0 8.668 230360 chr20 16347916 16347916 C A KIF16B Nonsynonymous SNV V1352F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 16.66 230361 chr8 145701125 145701125 G A rs374587860 FOXH1 Synonymous SNV S5S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.56 230362 chr1 17682598 17682598 C T rs988556909 PADI4 Synonymous SNV S477S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 230363 chr8 146076501 146076501 C T rs369531136 COMMD5 Nonsynonymous SNV A75T 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.571 230364 chr6 56480503 56480503 G A rs1045015924 DST Nonsynonymous SNV L2588F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 230365 chr12 113587667 113587667 C T rs61748300 CFAP73 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 230366 chr11 58979745 58979745 C G rs771122220 MPEG1 Synonymous SNV V198V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.919 230367 chr12 113906124 113906124 C G rs1034481256 LHX5 Synonymous SNV S161S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 230368 chr11 59211136 59211136 C A rs747945792 OR5A1 Synonymous SNV S165S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.307 230369 chr20 2638935 2638935 G C NOP56 Nonsynonymous SNV D594H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 230370 chr18 72593020 72593020 C T rs760124972 ZNF407 Synonymous SNV C1691C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.76 230371 chr13 32811652 32811652 T C FRY Nonsynonymous SNV S1983P 0 0.003 0 0 0 1 0 0 0 0 0 0 28 230372 chr21 47545888 47545888 G A rs145140058 COL6A2 Nonsynonymous SNV R720H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 27.7 230373 chr20 30672225 30672225 G A rs147876395 HCK Synonymous SNV S217S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.88 230374 chr12 121125215 121125215 C T rs375755832 MLEC Nonsynonymous SNV A39V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.76 230375 chr22 45970446 45970446 G A rs755919374 FBLN1 Nonsynonymous SNV D585N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 230376 chr1 200944009 200944009 G A rs150039989 KIF21B Synonymous SNV C1536C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 230377 chr11 60886924 60886924 C T rs372299142 CD5 Nonsynonymous SNV R171W 0 0 0 1 0 0 0.003 0 0 0 0 0 7.259 230378 chr22 19124926 19124926 C G ESS2 Nonsynonymous SNV M315I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 230379 chr1 201355885 201355885 T A LAD1 Nonsynonymous SNV I202F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 230380 chr12 124362343 124362343 T C rs777895410 DNAH10 Nonsynonymous SNV Y2636H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 230381 chr1 202565978 202565978 G A rs373155359 SYT2 Synonymous SNV S389S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.56 230382 chr20 36640975 36640975 A G rs140453382 TTI1 Nonsynonymous SNV I415T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.4 230383 chr11 63594450 63594450 C T rs201274430 SPINDOC Nonsynonymous SNV R329W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 230384 chr22 50942014 50942014 T C LMF2 Nonsynonymous SNV M619V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 230385 chr20 37634883 37634883 A G rs766377118 DHX35 Nonsynonymous SNV N338S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 230386 chr12 132401606 132401606 C T rs146595642 ULK1 Synonymous SNV I727I 0.003 0 0 0 4 0 0 0 0 0 0 0 5.563 230387 chr1 206648217 206648217 C T rs149591181 IKBKE Nonsynonymous SNV R80W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 230388 chr22 26164192 26164192 C G rs150178966 MYO18B Nonsynonymous SNV D103E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.041 230389 chr22 26181397 26181397 C T rs112900389 MYO18B Nonsynonymous SNV T772M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 33 230390 chr1 20982019 20982019 G C DDOST Synonymous SNV L172L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.686 230391 chr22 26224835 26224835 C T rs147134820 MYO18B Nonsynonymous SNV A960V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 34 230392 chr15 62237983 62237983 G A rs138165411 VPS13C Synonymous SNV D1650D 0 0.005 0.003 0 0 2 0 1 0 0 0 0 8.138 230393 chr11 65733672 65733672 G A rs923170569 SART1 Nonsynonymous SNV V322M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 230394 chr14 102793047 102793047 C T rs75766619 ZNF839 Synonymous SNV H222H 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 11.62 230395 chr11 66052910 66052910 C T rs145901576 YIF1A Nonsynonymous SNV V195M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.9 230396 chr2 113317133 113317133 G T POLR1B Nonsynonymous SNV A321S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.176 230397 chr7 103844599 103844599 T A rs2307413 ORC5 Nonsynonymous SNV K52N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.23 230398 chr1 21585264 21585264 G A rs753317579 ECE1 Synonymous SNV T216T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 230399 chr1 216363647 216363647 C A rs776039417 USH2A Nonsynonymous SNV R1438S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 230400 chr13 32783240 32783240 G A rs372531058 FRY Synonymous SNV T1423T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 230401 chr20 57769446 57769446 G A rs150212573 ZNF831 Synonymous SNV P1124P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.205 230402 chr1 22188531 22188531 C T rs773614903 HSPG2 Synonymous SNV T1607T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 230403 chr7 112126980 112126980 C T LSMEM1 Synonymous SNV L44L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.37 230404 chr22 36745275 36745275 G C rs56200894 MYH9 Nonsynonymous SNV Q3E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 13.5 230405 chr2 122522721 122522722 TG - TSN C129Sfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 230406 chr11 70281831 70281831 G A rs202066566 CTTN Nonsynonymous SNV V587M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 230407 chr14 20779872 20779872 C T CCNB1IP1 Nonsynonymous SNV R224Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.83 230408 chr22 38477120 38477120 G A SLC16A8 Synonymous SNV L309L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.93 230409 chr22 39907867 39907867 C A MIEF1 Nonsynonymous SNV A53E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 230410 chr11 75442274 75442274 C T rs140336718 MOGAT2 Synonymous SNV F316F 0 0 0 3 0 0 0.008 0 0 0 0 0 18.97 230411 chr2 149835462 149835462 G A rs377714519 KIF5C Synonymous SNV Q440Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.96 230412 chr22 40367029 40367029 C T rs147808667 GRAP2 Nonsynonymous SNV R199C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 230413 chr13 96375508 96375508 A G rs148990795 DNAJC3 Nonsynonymous SNV D69G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 230414 chr1 229768155 229768155 A G rs369255316 URB2 Nonsynonymous SNV N89S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.095 230415 chr1 230468613 230468613 T C PGBD5 Nonsynonymous SNV N417S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 230416 chr13 99498191 99498191 G A DOCK9 Synonymous SNV L1395L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.915 230417 chr7 134618474 134618476 GGA - rs573221724 CALD1 E321del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 230418 chr7 138946018 138946018 A G UBN2 Nonsynonymous SNV H309R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.7 230419 chr13 109707457 109707457 A G rs146716803 MYO16 Nonsynonymous SNV I1038V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.307 230420 chr11 94759057 94759057 C A KDM4E Nonsynonymous SNV H112Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 230421 chr13 113893835 113893835 G A rs138821614 CUL4A Synonymous SNV A335A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.74 230422 chr21 34956917 34956917 T C DONSON Nonsynonymous SNV Q255R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24 230423 chr7 150732813 150732813 G T ABCB8 Nonsynonymous SNV R216L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 230424 chr11 113266129 113266129 A G rs367585993 ANKK1 Synonymous SNV S227S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.63 230425 chr16 541208 541208 A G RAB11FIP3 Nonsynonymous SNV H447R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 230426 chr16 1129599 1129599 G A rs147919076 SSTR5 Nonsynonymous SNV R244Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 230427 chr9 135983625 135983625 T C rs753240581 RALGDS Nonsynonymous SNV Q261R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 230428 chr7 151842339 151842339 G A rs151023183 KMT2C Synonymous SNV Y4691Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.321 230429 chr14 21990897 21990897 A G rs142138768 SALL2 Nonsynonymous SNV S987P 0.006 0.003 0 0 7 1 0 0 1 0 0 0 23 230430 chr9 136277507 136277507 G A rs782780392 REXO4 Synonymous SNV C137C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.601 230431 chr14 23448194 23448194 G C rs182119710 AJUBA Nonsynonymous SNV S353C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.102 230432 chr21 44433325 44433325 C T PKNOX1 Nonsynonymous SNV P50S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 24.6 230433 chr11 119025549 119025549 G A rs774335112 ABCG4 Nonsynonymous SNV G204R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 230434 chr2 128263168 128263168 G A rs771639119 IWS1 Nonsynonymous SNV P104L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23 230435 chr14 24769849 24769849 - GAGGAGGAGGAG NOP9 E169_D170insEEEE 0.001 0 0 0 1 0 0 0 0 0 0 0 230436 chr7 23300127 23300127 C A GPNMB Synonymous SNV S251S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.48 230437 chr11 123887107 123887107 A G rs112431396 OR10G4 Nonsynonymous SNV T276A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.29 230438 chr2 20166666 20166666 C A WDR35 Nonsynonymous SNV G338V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 230439 chr14 39650850 39650850 A G PNN Nonsynonymous SNV H646R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.512 230440 chr2 202357478 202357478 T C C2CD6 Nonsynonymous SNV S1196G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 230441 chr2 202545622 202545622 G C MPP4 Nonsynonymous SNV R290G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 230442 chr2 203964405 203964405 C T rs772574709 NBEAL1 Synonymous SNV T384T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 230443 chr22 21330808 21330808 C T AIFM3 Synonymous SNV V337V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 14.01 230444 chr22 23401884 23401884 G A rs140606064 RSPH14 Nonsynonymous SNV A268V 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 28.3 230445 chr1 39715723 39715723 G A rs370298136 MACF1 Nonsynonymous SNV R107Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 230446 chr2 21236276 21236276 C A rs775070656 APOB Nonsynonymous SNV K1324N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 10.17 230447 chr1 41327400 41327400 C T CITED4 Nonsynonymous SNV A134T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.5 230448 chr1 43688640 43688640 A C rs1051361795 CFAP57 Nonsynonymous SNV K893T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 230449 chr7 4854985 4854985 G A rs1001524151 RADIL Nonsynonymous SNV A688V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.723 230450 chr14 95599776 95599776 T C rs117358479 DICER1 Nonsynonymous SNV Q7R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 3.877 230451 chr14 70826293 70826293 G C rs763418434 COX16 Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 230452 chr14 73753917 73753917 G A rs774977378 NUMB Nonsynonymous SNV R175W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 230453 chr12 7982478 7982478 C T rs755077699 SLC2A14 Nonsynonymous SNV G47R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 230454 chr2 220417258 220417258 C A rs748642255 OBSL1 Nonsynonymous SNV G1770W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 230455 chr10 31137821 31137821 G C ZNF438 Nonsynonymous SNV P505A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.96 230456 chr19 44661482 44661482 G A rs376364041 ZNF234 Nonsynonymous SNV R438H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 230457 chr1 57378141 57378141 C A rs777141218 C8A Nonsynonymous SNV N482K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 230458 chr1 59004880 59004880 G A OMA1 Synonymous SNV N29N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.606 230459 chr15 29393937 29393937 G A APBA2 Nonsynonymous SNV E184K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 230460 chr7 69064767 69064767 C T rs945733678 AUTS2 Nonsynonymous SNV T43I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 230461 chr2 232209787 232209787 G A rs201289966 ARMC9 Nonsynonymous SNV R627K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.8 230462 chr2 233351093 233351093 C T ECEL1 Nonsynonymous SNV G91S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.908 230463 chr19 45923661 45923661 C T rs200459924 ERCC1 Nonsynonymous SNV V116M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 230464 chr19 46173930 46173930 A T rs751598933 GIPR Nonsynonymous SNV Q37L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 230465 chr19 46357748 46357748 C T SYMPK Synonymous SNV A2A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.26 230466 chr19 47225321 47225321 C A rs1013166253 STRN4 Nonsynonymous SNV V679L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 230467 chr14 94510350 94510350 C T OTUB2 Synonymous SNV D84D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 230468 chr2 186670440 186670440 G T rs769494599 FSIP2 Nonsynonymous SNV M5469I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 230469 chr1 85511008 85511008 G A rs540694302 MCOLN3 Synonymous SNV S12S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 230470 chr2 238277247 238277247 G A rs746947010 COL6A3 Nonsynonymous SNV P1013L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 230471 chr2 241696841 241696855 TCCTCCTCCTCCTCC - KIF1A E913_E917del 0.001 0 0 0 1 0 0 0 0 0 0 0 230472 chr2 241696853 241696855 TCC - KIF1A E917del 0.001 0 0 0 1 0 0 0 0 0 0 0 230473 chr19 48946247 48946247 G A GRIN2D Nonsynonymous SNV G1022S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.77 230474 chr2 201438493 201438493 A G rs1022914887 SGO2 Nonsynonymous SNV I1142V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 230475 chr2 242157774 242157774 G A rs371748155 ANO7 Nonsynonymous SNV A767T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.57 230476 chr8 100729424 100729424 A C VPS13B Synonymous SNV L2185L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.022 230477 chr2 202082452 202082452 A G rs747642517 CASP10 Synonymous SNV A452A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.101 230478 chr2 242658937 242658937 G A rs764259126 ING5 Synonymous SNV S176S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.144 230479 chr1 98511778 98511778 - CCG MIR137HG 0 0 0.003 0 0 0 0 1 0 0 0 0 230480 chr1 98511784 98511784 - CTGCTA MIR137HG 0 0 0.003 0 0 0 0 1 0 0 0 0 230481 chr2 26151896 26151896 G C rs13030360 KIF3C Nonsynonymous SNV S778C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 230482 chr12 49689719 49689719 T A LOC101927267 0 0 0 1 0 0 0.003 0 0 0 0 0 9.382 230483 chr2 26818079 26818079 G A rs373745287 CIB4 Nonsynonymous SNV P98L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 230484 chr19 50783569 50783569 C T rs535145284 MYH14 Nonsynonymous SNV R1366C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 30 230485 chr10 79745739 79745739 C T rs139665002 POLR3A Nonsynonymous SNV R998H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 22.9 230486 chr19 50925740 50925740 G A rs200555920 SPIB Nonsynonymous SNV A2T 0.005 0 0 2 6 0 0.005 0 0 0 0 0 Likely benign 23.2 230487 chr12 50043310 50043310 G C rs767494449 FMNL3 Synonymous SNV A698A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 230488 chr2 27700144 27700144 T C IFT172 Nonsynonymous SNV Y422C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 230489 chr19 51228346 51228346 - GCGGCGCAGGC rs765429884 CLEC11A Frameshift insertion C204Rfs*205 0 0 0 1 0 0 0.003 0 0 0 0 0 230490 chr12 51068409 51068409 G A rs73093419 DIP2B Nonsynonymous SNV D265N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 22.7 230491 chr2 28854945 28854945 C T rs143020142 PLB1 Nonsynonymous SNV R1303C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 230492 chr20 23016462 23016462 C A SSTR4 Nonsynonymous SNV F114L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 230493 chr12 51445978 51445978 G A rs759584012 LETMD1 Synonymous SNV E70E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.53 230494 chr2 29258439 29258439 - TCCGG rs747462412 TOGARAM2 Frameshift insertion R591Gfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 230495 chr8 124810452 124810452 C T rs755737414 FAM91A1 Nonsynonymous SNV R270W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.6 230496 chr2 120003393 120003393 G A rs374403064 STEAP3 Synonymous SNV A107A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.109 230497 chr2 120358904 120358904 C T rs868568368 CFAP221 Nonsynonymous SNV P248S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 24.1 230498 chr20 33169410 33169410 T C rs767458163 PIGU Synonymous SNV T331T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 230499 chr2 135107388 135107388 A G rs754950531 MGAT5 Synonymous SNV R375R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.609 230500 chr20 3683932 3683932 G A rs780394345 SIGLEC1 Synonymous SNV A380A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.294 230501 chr12 53453549 53453549 G T rs752335956 TNS2 Synonymous SNV R718R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.999 230502 chr2 43958714 43958714 G C rs375101312 PLEKHH2 Synonymous SNV L972L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.449 230503 chr15 72120240 72120240 T C rs2291280 MYO9A Nonsynonymous SNV I2390V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 230504 chr8 144407665 144407665 G A rs369984830 TOP1MT Synonymous SNV F76F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.47 230505 chr15 74177199 74177199 C T rs2053959 TBC1D21 Synonymous SNV L113L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 230506 chr20 44238755 44238755 C T WFDC9 Synonymous SNV L22L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.329 230507 chr15 75499329 75499329 G A rs768229397 C15orf39 Nonsynonymous SNV G314R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 230508 chr20 44590715 44590715 C T rs760596502 ZNF335 Nonsynonymous SNV R547Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 230509 chr20 44640954 44640954 T C rs762346550 MMP9 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 230510 chr8 144945211 144945211 G A rs782675374 EPPK1 Synonymous SNV R737R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.03 230511 chr19 55505686 55505686 C G rs145736130 NLRP2 Nonsynonymous SNV L898V 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 8.637 230512 chr12 57389535 57389535 C T rs774040016 GPR182 Nonsynonymous SNV S181L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 230513 chr10 112541506 112541506 G A rs777080028 RBM20 Nonsynonymous SNV R380Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.8 230514 chr2 236839506 236839506 A G rs151254117 AGAP1 Synonymous SNV S474S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.388 230515 chr15 62232916 62232916 C T rs773059978 VPS13C Nonsynonymous SNV R1801Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 230516 chr20 51870840 51870840 C A rs754714953 TSHZ2 Synonymous SNV G278G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 230517 chr15 62360088 62360088 A G rs761132649 C2CD4A Synonymous SNV S92S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.808 230518 chr20 55111285 55111285 - A rs773286254 FAM209B Frameshift insertion N104Kfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 230519 chr2 240029841 240029841 T C HDAC4 Nonsynonymous SNV T668A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.71 230520 chr20 57266787 57266787 A G rs543837489 STX16-NPEPL1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.755 230521 chr10 122612080 122612080 T A WDR11 Nonsynonymous SNV V44E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 230522 chr20 6069736 6069736 C T FERMT1 Synonymous SNV R380R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 230523 chr10 129902197 129902197 G A rs143309375 MKI67 Nonsynonymous SNV P2276L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.12 230524 chr3 101540356 101540356 G A rs779031147 NXPE3 Nonsynonymous SNV R344H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 230525 chr20 62366616 62366616 G C rs759532004 ZGPAT Nonsynonymous SNV R366T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.174 230526 chr20 62839435 62839440 GAGGAA - rs537698482 MYT1 E305_E306del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 230527 chr12 104025453 104025453 G A rs1009296948 STAB2 Nonsynonymous SNV G189S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 230528 chr3 111805288 111805288 G C rs764787339 C3orf52 Nonsynonymous SNV E12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 230529 chr19 58946389 58946389 G A ZNF132 Nonsynonymous SNV P141L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.062 230530 chr2 31409328 31409328 T C rs371139161 CAPN14 Synonymous SNV Q537Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.044 230531 chr8 37971720 37971720 C G ASH2L Nonsynonymous SNV P60R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.8 230532 chr15 86284471 86284471 C T rs764098592 AKAP13 Synonymous SNV R1222R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 230533 chr21 34120990 34120990 G A rs140333561 PAXBP1 Synonymous SNV S581S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 230534 chr16 1396895 1396895 C T rs777868343 BAIAP3 Nonsynonymous SNV A861V 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 230535 chr21 38597878 38597878 C T rs111365234 VPS26C Synonymous SNV T162T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.74 230536 chr8 67428245 67428245 G A rs373696105 VXN Nonsynonymous SNV M186I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 230537 chr15 91017358 91017358 G A rs370020634 IQGAP1 Synonymous SNV K856K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.76 230538 chr21 42813706 42813706 G A rs145851733 MX1 Nonsynonymous SNV R265Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.513 230539 chr2 54150471 54150471 C T rs377452212 PSME4 Nonsynonymous SNV R632H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 230540 chr3 123385148 123385148 C T rs139817477 MYLK Nonsynonymous SNV R1074H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 32 230541 chr21 43412415 43412415 T C ZBTB21 Nonsynonymous SNV Q597R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 230542 chr12 122247620 122247620 G A SETD1B Nonsynonymous SNV A257T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.44 230543 chr2 61508321 61508321 C T rs4645002 USP34 Synonymous SNV L1685L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.77 230544 chr12 123466218 123466218 T C rs756079577 ARL6IP4 Synonymous SNV S263S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 230545 chr21 46032087 46032087 G A rs111668637 KRTAP10-8 Nonsynonymous SNV V24M 0 0 0.01 0 0 0 0 3 0 0 1 0 7.436 230546 chr16 2143701 2143701 C T PKD1 Synonymous SNV K3619K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.21 230547 chr12 124887058 124887058 - GCGGCT NCOR2 Q509_P510insQP 0 0 0 1 0 0 0.003 0 0 0 0 0 230548 chr3 12858357 12858357 A C rs372298312 CAND2 Synonymous SNV L549L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 230549 chr21 46841242 46841242 C T rs377462704 COL18A1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 6.648 230550 chr21 46876437 46876437 C T rs373848921 COL18A1 Synonymous SNV A331A 0 0 0.007 0 0 0 0 2 0 0 1 0 7.875 230551 chr21 47407541 47407541 G A rs61735854 COL6A1 Synonymous SNV P259P 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 13.71 230552 chr9 100080780 100080780 C T rs200586749 CCDC180 Nonsynonymous SNV P376L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 230553 chr2 71576909 71576909 C T rs148484922 ZNF638 Synonymous SNV P275P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.122 230554 chr16 711944 711944 C G WDR90 Synonymous SNV L1306L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.856 230555 chr12 132195981 132195981 C T rs746902427 SFSWAP Synonymous SNV I69I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.42 230556 chr16 727799 727799 G T RHBDL1 Nonsynonymous SNV R215L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 230557 chr12 132396575 132396575 G C rs765830327 ULK1 Nonsynonymous SNV G346A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.16 230558 chr22 18301334 18301334 A G MICAL3 Nonsynonymous SNV S1365P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.784 230559 chr12 133209279 133209279 T A rs751818136 POLE Nonsynonymous SNV E2036V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22 230560 chr2 219494262 219494262 G A rs561847468 PLCD4 Nonsynonymous SNV R332H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 230561 chr22 19839453 19839453 G A rs144744793 RTL10 Nonsynonymous SNV P111L 0.003 0.005 0.003 3 3 2 0.008 1 0 0 0 0 23.6 230562 chr9 105767683 105767683 C T rs369079750 CYLC2 Nonsynonymous SNV S257L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.685 230563 chr3 1369231 1369231 T A rs775187238 CNTN6 Nonsynonymous SNV Y288N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 230564 chr9 112151519 112151519 T C rs763753688 PTPN3 Synonymous SNV R417R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.833 230565 chr16 2813276 2813276 A G rs200521800 SRRM2 Nonsynonymous SNV Q916R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.614 230566 chr22 26164222 26164222 C T rs778844679 MYO18B Synonymous SNV R113R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.531 230567 chr3 146311916 146311916 - ATCACTAATGATC PLSCR5 Stop gain T82Dfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 230568 chr22 26688382 26688382 C A rs201233214 SEZ6L Synonymous SNV P35P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 230569 chr22 26838450 26838450 G C rs763491039 ASPHD2 Nonsynonymous SNV E304D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 230570 chr13 32906593 32906593 C A rs28897706 BRCA2 Nonsynonymous SNV S326R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.66 230571 chr2 228566892 228566892 C A rs768551143 SLC19A3 Nonsynonymous SNV S48I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.428 230572 chr17 40369269 40369269 C T rs757544937 STAT5B Nonsynonymous SNV R430H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 230573 chr9 117430511 117430511 A G rs761273255 TEX48 Synonymous SNV T78T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.33 230574 chr9 119124875 119124875 T C rs117752286 PAPPA Nonsynonymous SNV L1451P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.235 230575 chr13 42793408 42793408 C T DGKH Nonsynonymous SNV H841Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 230576 chr13 43180727 43180727 T C TNFSF11 Synonymous SNV N209N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.168 230577 chr22 35734759 35734759 C T rs765762993 TOM1 Nonsynonymous SNV A356V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 230578 chr16 52473457 52473457 G A TOX3 Stop gain Q471X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 230579 chr11 5510439 5510439 G A rs199921119 OR52D1 Nonsynonymous SNV R168Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 230580 chr1 11345960 11345960 A G UBIAD1 Synonymous SNV T263T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.694 230581 chr13 50042073 50042073 C T SETDB2, SETDB2-PHF11 Synonymous SNV S94S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.76 230582 chr22 40058383 40058383 C A CACNA1I Synonymous SNV V1070V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 230583 chr1 1181944 1181944 - G rs571313759 C1QTNF12 Frameshift insertion N43Qfs*25 0.002 0 0 5 2 0 0.013 0 0 0 0 0 230584 chr13 75936239 75936239 G A TBC1D4 Nonsynonymous SNV P335S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.412 230585 chr13 76397703 76397703 G A LMO7 Nonsynonymous SNV M554I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 230586 chr16 67234409 67234409 G A rs376353251 ELMO3 Nonsynonymous SNV G157S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 230587 chr13 77671628 77671628 C T MYCBP2 Nonsynonymous SNV G3221S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 230588 chr16 68014081 68014081 C A DPEP3 Nonsynonymous SNV G68V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.095 230589 chr16 683468 683468 G A rs751410634 WFIKKN1 Nonsynonymous SNV R353H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.64 230590 chr16 69681107 69681107 A G rs148886916 NFAT5 Nonsynonymous SNV S126G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 0.49 230591 chr22 44373792 44373794 AAG - SAMM50 E298del 0 0 0.003 0 0 0 0 1 0 0 0 0 230592 chr1 1247671 1247671 G A rs556901913 INTS11 Synonymous SNV R416R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 13.54 230593 chr16 70298925 70298925 C G rs80257731 AARS1 Synonymous SNV R476R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 9.809 230594 chr3 121720683 121720683 C T rs376552654 ILDR1 Nonsynonymous SNV M136I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 230595 chr13 99948314 99948314 G A rs200374704 GPR183 Nonsynonymous SNV T29M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.02 230596 chr22 46068044 46068044 A G rs974261765 ATXN10 Nonsynonymous SNV K34R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 230597 chr13 103387532 103387532 G A rs374443273 CCDC168 Nonsynonymous SNV T5172M 0 0 0.003 3 0 0 0.008 1 0 0 0 0 14.65 230598 chr2 242741335 242741335 G A rs769371859 GAL3ST2 Nonsynonymous SNV G87S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.6 230599 chr3 126151996 126151996 G C CFAP100 Synonymous SNV L457L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.877 230600 chr3 12650270 12650270 T C rs148759910 RAF1 Synonymous SNV Q111Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.423 230601 chr22 50682351 50682351 G T rs143957857 TUBGCP6 Nonsynonymous SNV Q180K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.6 230602 chr16 30794092 30794092 G A rs763257315 ZNF629 Synonymous SNV C519C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.526 230603 chr3 3189654 3189654 T A rs767919151 TRNT1 Nonsynonymous SNV L354H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 230604 chr3 32031067 32031067 C T rs145325915 ZNF860 Nonsynonymous SNV L166F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 230605 chr3 32433459 32433459 G C rs11717165 CMTM7 Nonsynonymous SNV G21R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.9 230606 chr16 46761264 46761264 G A rs202097167 MYLK3 Nonsynonymous SNV R259W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 230607 chr2 101645994 101645994 G A rs747420091 TBC1D8 Synonymous SNV C712C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.106 230608 chr16 50828286 50828286 A T rs1039611515 CYLD Nonsynonymous SNV Y875F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 230609 chr16 53319511 53319511 C T CHD9 Synonymous SNV D1657D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 230610 chr3 132075572 132075572 C T ACP3 Synonymous SNV H304H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.06 230611 chr16 56438865 56438865 G A AMFR Nonsynonymous SNV L266F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 230612 chr16 56459052 56459052 G C AMFR Nonsynonymous SNV P63R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 230613 chr3 13370299 13370299 T C rs138343116 NUP210 Nonsynonymous SNV S1420G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 230614 chr9 139847466 139847466 G T LCN12 Nonsynonymous SNV W79C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.709 230615 chr2 111556243 111556243 C T rs187576230 ACOXL Synonymous SNV A134A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.3 230616 chr3 140397286 140397286 A G TRIM42 Nonsynonymous SNV N72S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 230617 chr3 42917123 42917123 G T CYP8B1 Synonymous SNV T62T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.027 230618 chr16 66803909 66803909 G A rs781103890 TERB1 Nonsynonymous SNV H526Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.337 230619 chr16 66919556 66919556 C G rs373445113 PDP2 Nonsynonymous SNV Q457E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.214 230620 chr2 11725912 11725912 C T rs149950879 GREB1 Nonsynonymous SNV P347L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.5 230621 chr16 66919668 66919668 C T rs775681823 PDP2 Nonsynonymous SNV A494V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 230622 chr3 44867917 44867917 A G rs201701864 KIF15 Synonymous SNV S917S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.4 230623 chr3 150128822 150128822 C G rs142100582 TSC22D2 Nonsynonymous SNV A562G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.755 230624 chr2 54482476 54482476 G A rs777341981 TSPYL6 Synonymous SNV A271A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.491 230625 chr16 69355125 69355125 T C rs775613522 VPS4A Synonymous SNV S341S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.097 230626 chr14 31109055 31109055 C T SCFD1 Nonsynonymous SNV L78F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 230627 chr14 31795517 31795517 C T rs374850340 HEATR5A Synonymous SNV G1133G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.28 230628 chr9 20414311 20414319 CTGCTGCTG - rs759912196 MLLT3 S185_S187del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 230629 chr14 33068630 33068630 T A AKAP6 Nonsynonymous SNV N828K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 230630 chr3 160395261 160395261 C T rs187614470 ARL14 Nonsynonymous SNV P43S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 230631 chr16 71885683 71885683 C A rs753863887 ATXN1L Synonymous SNV S680S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 230632 chr3 164905751 164905751 T C SLITRK3 Synonymous SNV L956L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.18 230633 chr3 49459834 49459834 G A AMT Nonsynonymous SNV A17V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.17 230634 chr16 75563353 75563353 G A rs146332168 CHST5 Synonymous SNV Y310Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.957 230635 chr14 50176542 50176542 C T KLHDC1 Stop gain R95X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 230636 chr14 50583103 50583103 G A rs750825263 VCPKMT Synonymous SNV P56P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.08 230637 chr14 50807939 50807939 C T rs564675572 CDKL1 Nonsynonymous SNV D157N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 230638 chr9 35737376 35737376 C T rs145866042 GBA2 Synonymous SNV L858L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 14.49 230639 chr9 35957933 35957933 G A rs772336106 OR2S2 Nonsynonymous SNV R55C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.9 230640 chr3 52246348 52246348 C A rs142835980 ALAS1 Synonymous SNV I558I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.04 230641 chr14 53020177 53020177 C T rs200851420 GPR137C Synonymous SNV F104F 0 0 0 2 0 0 0.005 0 0 0 0 0 4.259 230642 chr2 162362343 162362343 T C AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.854 230643 chr2 162362364 162362364 G A rs557873760 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.879 230644 chr2 162877156 162877156 A G DPP4 Nonsynonymous SNV F371L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 230645 chr2 163027426 163027426 A G rs1042135 LOC101929532 0 0 0.003 0 0 0 0 1 0 0 0 0 3.298 230646 chr3 186338624 186338624 C T rs747609503 AHSG Nonsynonymous SNV R309W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 230647 chr16 85100714 85100714 G A rs139487660 KIAA0513 Nonsynonymous SNV D13N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 230648 chr9 88257837 88257837 T A AGTPBP1 Nonsynonymous SNV I455F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 230649 chr2 179425438 179425438 C T rs754356257 TTN Nonsynonymous SNV R19409H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23 230650 chr2 179612921 179612921 G A rs770663802 TTN Nonsynonymous SNV L4736F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.913 230651 chr14 75376285 75376285 G A rs201677862 RPS6KL1 Nonsynonymous SNV R411W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 230652 chr3 9911908 9911908 T C CIDEC Synonymous SNV A28A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.085 230653 chr3 99567661 99567663 GGA - rs530923384 FILIP1L S713del 0.001 0 0 0 1 0 0 0 0 0 0 0 230654 chr17 32955627 32955627 G T TMEM132E Synonymous SNV R348R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.053 230655 chr17 1557262 1557262 C A PRPF8 Synonymous SNV L2012L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 230656 chr4 103455018 103455018 T C NFKB1 Synonymous SNV L44L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.364 230657 chr2 198593237 198593237 G C rs372757808 BOLL Nonsynonymous SNV S325C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 230658 chr11 57004131 57004131 G A rs150922621 APLNR Synonymous SNV S116S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.518 230659 chr14 91763654 91763654 A G CCDC88C Nonsynonymous SNV C1321R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 230660 chr2 20194109 20194109 C T rs767173418 MATN3 Synonymous SNV L452L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 230661 chr2 201943669 201943669 T C rs142609245 NDUFB3 Nonsynonymous SNV W22R 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 26.9 230662 chr2 202400933 202400933 G A rs201501497 C2CD6 Synonymous SNV P439P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.403 230663 chrX 149895700 149895700 G A rs370265905 MTMR1 Nonsynonymous SNV M114I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 230664 chr2 207011753 207011753 A G rs148544177 NDUFS1 Nonsynonymous SNV M93T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.5 230665 chr4 122782829 122782829 C T rs144525608 BBS7 Synonymous SNV V57V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.85 230666 chr4 123304992 123304992 G A rs754513934 ADAD1 Nonsynonymous SNV V134M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 230667 chrX 153052960 153052960 G A rs782207526 IDH3G Synonymous SNV S211S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.33 230668 chr3 46620850 46620850 C - TDGF1 Q57Sfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 230669 chr2 210940415 210940415 T C rs750298927 KANSL1L Nonsynonymous SNV K539R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 230670 chrX 15540599 15540599 C T rs139052738 BMX Nonsynonymous SNV A214V 0.009 0 0 5 10 0 0.013 0 2 0 0 2 Benign 8.205 230671 chr2 21255283 21255283 A G rs371145776 APOB Nonsynonymous SNV M432T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.413 230672 chr17 5353717 5353717 T A DHX33 Nonsynonymous SNV M339L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.77 230673 chr14 100069510 100069510 G A CCDC85C Synonymous SNV L263L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.105 230674 chr11 60899340 60899340 A C VPS37C Synonymous SNV P340P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 230675 chr4 140394078 140394078 C T RAB33B Nonsynonymous SNV A163V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 230676 chr3 49680150 49680150 G A rs201569483 BSN Synonymous SNV A361A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.53 230677 chr4 149356633 149356633 A T rs149589666 NR3C2 Nonsynonymous SNV F460L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.93 230678 chrX 32398710 32398710 C A rs749732729 DMD Nonsynonymous SNV A247S 0.001 0 0 2 1 0 0.005 0 0 0 0 1 Likely benign 24.4 230679 chr4 152069087 152069087 T C SH3D19 Nonsynonymous SNV Y374C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 230680 chr3 51747075 51747075 G A rs200432452 GRM2 Nonsynonymous SNV R346H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 230681 chr3 52557692 52557692 C T rs145640449 STAB1 Nonsynonymous SNV R2439C 0 0.003 0 0 0 1 0 0 0 0 0 0 22 230682 chr14 105399142 105399142 G - rs748390507 PLD4 V463Wfs*106 0 0 0 1 0 0 0.003 0 0 0 0 0 230683 chr2 220408194 220408194 C T CHPF Nonsynonymous SNV G23S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 230684 chr3 62189420 62189420 G A rs761975908 PTPRG Nonsynonymous SNV V651I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 230685 chr2 231867501 231867501 C T SPATA3 Synonymous SNV H192H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.443 230686 chrX 85769366 85769366 C T DACH2 Synonymous SNV L191L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12 230687 chrX 96203936 96203936 C T rs143029608 DIAPH2 Synonymous SNV F504F 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 Benign 14.72 230688 chr10 100013356 100013356 G A rs761221673 LOXL4 Nonsynonymous SNV R597C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 230689 chr2 234217847 234217847 C T SAG Synonymous SNV S4S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 230690 chr3 164766944 164766944 A G rs763063946 SI Synonymous SNV Y562Y 0.005 0.003 0.003 1 6 1 0.003 1 0 0 0 0 1.095 230691 chr15 41388414 41388414 T G INO80 Nonsynonymous SNV D32A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 230692 chr15 41804345 41804345 C - LTK V160Wfs*81 0 0 0 1 0 0 0.003 0 0 0 0 0 230693 chr3 17226601 17226601 C G rs149215404 TBC1D5 Nonsynonymous SNV V482L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.948 230694 chr11 71148959 71148959 C T rs565893436 DHCR7 Nonsynonymous SNV E288K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 230695 chr2 239070292 239070292 G C ERFE Nonsynonymous SNV V86L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.44 230696 chr10 105837224 105837224 T C rs758926317 COL17A1 Nonsynonymous SNV E53G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 230697 chr11 71724076 71724076 C T NUMA1 Synonymous SNV L1491L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.488 230698 chr17 19451354 19451354 C G rs150187761 SLC47A1 Synonymous SNV L121L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.181 230699 chr11 74414408 74414408 G A rs369568362 CHRDL2 Synonymous SNV T231T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.397 230700 chr15 42983973 42983973 C T rs376018737 STARD9 Synonymous SNV H3399H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.382 230701 chr1 228399980 228399980 G A rs555146765 OBSCN Nonsynonymous SNV A166T 0 0 0 3 0 0 0.008 0 0 0 0 0 10.15 230702 chr2 24930262 24930262 C T rs41281515 NCOA1 Synonymous SNV A641A 0 0 0.01 0 0 0 0 3 0 0 0 0 15.23 230703 chr15 45399150 45399150 G A DUOX2 Nonsynonymous SNV P571S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 230704 chr17 5319958 5319958 G T NUP88 Synonymous SNV V114V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.593 230705 chr2 28772910 28772910 A G PLB1 Nonsynonymous SNV N359D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 230706 chr15 50831019 50831019 G A rs375174335 USP50 Synonymous SNV D230D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.42 230707 chr11 101341931 101341931 C G rs201522744 TRPC6 Nonsynonymous SNV D798H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 230708 chr11 101832532 101832532 C T CEP126 Nonsynonymous SNV L256F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 230709 chr2 3691065 3691065 G A rs34351135 COLEC11 Synonymous SNV K46K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.969 230710 chr4 52951089 52951089 C T rs145325813 SPATA18 Nonsynonymous SNV S271L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 230711 chr2 3751507 3751507 G T rs114180540 DCDC2C Nonsynonymous SNV V56F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.7 230712 chr4 55594062 55594062 G A rs148853099 KIT Synonymous SNV A616A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.592 230713 chr4 55956225 55956225 C T rs36114464 KDR Synonymous SNV A1030A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.4 230714 chr11 105880687 105880687 C T rs149361431 MSANTD4 Nonsynonymous SNV V205I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.944 230715 chr4 56819279 56819279 C T rs202084972 CEP135 Nonsynonymous SNV R48W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 34 230716 chr11 110036420 110036420 C A rs143182695 ZC3H12C Synonymous SNV L870L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 230717 chr11 111166910 111166910 G A rs76116005 COLCA1 Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.032 230718 chr15 65425390 65425390 G A PDCD7 Nonsynonymous SNV R244C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 230719 chr2 44570901 44570901 G A rs369303884 PREPL Nonsynonymous SNV P200L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 230720 chr2 61749813 61749813 A G rs771521851 XPO1 Synonymous SNV Y78Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 230721 chr15 73566160 73566160 A C rs140996696 NEO1 Nonsynonymous SNV I992L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.2 230722 chr10 15255056 15255056 G A rs140008436 FAM171A1 Nonsynonymous SNV S844L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.637 230723 chr3 42678377 42678377 C T NKTR Nonsynonymous SNV S394L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 230724 chr15 75913324 75913324 G A rs137948730 SNUPN Synonymous SNV A23A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 230725 chr17 7231165 7231165 T C rs200967110 NEURL4 Synonymous SNV T107T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.436 230726 chr17 72436761 72436761 C T rs201915748 GPRC5C Synonymous SNV I282I 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 12.95 230727 chr2 72359636 72359636 G C rs7568553 CYP26B1 Nonsynonymous SNV A345G 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 Benign/Likely benign 15.63 230728 chr10 23393091 23393091 A G rs2296466 MSRB2 Nonsynonymous SNV E46G 0.003 0 0 0 3 0 0 0 0 0 0 0 19.1 230729 chr10 27040603 27040603 C T ABI1 Synonymous SNV E246E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 230730 chr4 84347243 84347243 A G rs144287404 HELQ Synonymous SNV F826F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.518 230731 chr15 89442723 89442723 T A rs147286834 MFGE8 Nonsynonymous SNV N304I 0.002 0 0 3 2 0 0.008 0 0 0 0 0 29.4 230732 chr3 100438892 100438892 G T rs150620449 TFG Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.83 230733 chr17 76480955 76480955 C A rs868637875 DNAH17 Synonymous SNV R2548R 0 0.005 0 2 0 2 0.005 0 0 0 0 0 14.91 230734 chr4 265195 265195 A C rs201614981 ZNF732 Stop gain L484X 0 0.005 0 0 0 2 0 0 0 0 0 0 34 230735 chr17 48618931 48618931 C G rs201917992 EPN3 Nonsynonymous SNV S487R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.099 230736 chr4 2951973 2951973 G A NOP14-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.043 230737 chr4 89397092 89397092 T C HERC5 Nonsynonymous SNV M498T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.53 230738 chr19 14938868 14938868 G A rs866796294 OR7A5 Synonymous SNV F62F 0 0.003 0 0 0 1 0 0 0 0 0 0 5.068 230739 chr17 77042695 77042695 C T rs566478936 C1QTNF1 Nonsynonymous SNV R72W 0 0.005 0 2 0 2 0.005 0 0 0 0 0 22.9 230740 chr4 3318370 3318370 C T rs151175716 RGS12 Nonsynonymous SNV A158V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.11 230741 chr4 90816641 90816641 C T rs61741915 MMRN1 Synonymous SNV G173G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.91 230742 chr4 36118723 36118723 T C rs778707056 ARAP2 Nonsynonymous SNV Y1333C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 230743 chr3 111603967 111603972 CCTGTG - rs562210962 PHLDB2 C349_A350del 0.007 0 0.017 4 8 0 0.01 5 0 0 0 0 230744 chr17 56395700 56395700 A G TSPOAP1 Nonsynonymous SNV S545P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 230745 chr3 112358265 112358265 T C CCDC80 Nonsynonymous SNV Y163C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 230746 chr15 94983416 94983416 C T rs117414141 MCTP2 Synonymous SNV I699I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.84 230747 chr3 57545349 57545349 G A PDE12 Nonsynonymous SNV C483Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 230748 chr15 99768807 99768807 T C rs146591202 TTC23 Synonymous SNV L37L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.114 230749 chr3 69230153 69230153 C T rs370212737 FRMD4B Synonymous SNV P916P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.42 230750 chr17 61914871 61914871 T C rs751654320 SMARCD2 Nonsynonymous SNV M111V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 230751 chr5 112177817 112177817 T C rs183468041 APC Synonymous SNV L2158L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.221 230752 chr5 112899641 112899641 A T YTHDC2 Nonsynonymous SNV K543I 0.002 0 0 0 2 0 0 0 0 0 0 0 31 230753 chr3 121500676 121500676 C A rs780327292 IQCB1 Nonsynonymous SNV A309S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 230754 chr3 97595315 97595315 A C CRYBG3 Synonymous SNV A1759A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.462 230755 chr5 114916351 114916351 T G rs7705473 TICAM2, TMED7-TICAM2 Synonymous SNV G201G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.54 230756 chr5 114916763 114916763 C T rs113049216 TICAM2, TMED7-TICAM2 Nonsynonymous SNV S64N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.855 230757 chr3 121650572 121650578 TTATTAC - SLC15A2 N556Pfs*53 0 0 0.003 0 0 0 0 1 0 0 0 0 230758 chr3 97852238 97852238 G T OR5H1 Nonsynonymous SNV G233C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 230759 chr16 1254361 1254361 A T rs28365117 CACNA1H Nonsynonymous SNV K785M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.2 230760 chr5 122751721 122751721 C T rs370142490 CEP120 Nonsynonymous SNV A76T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 230761 chr16 1821500 1821500 G T rs780844739 NME3 Synonymous SNV L12L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.298 230762 chr12 12633195 12633195 G A DUSP16 Synonymous SNV I259I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 230763 chr5 131008212 131008212 C T rs148128836 FNIP1 Nonsynonymous SNV G614E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.263 230764 chr3 126207102 126207102 C T rs773916999 UROC1 Nonsynonymous SNV V577M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 230765 chr4 106155727 106155727 - GTGCTACA TET2 Frameshift insertion S214Lfs*39 0.001 0 0 0 1 0 0 0 0 0 0 0 230766 chr17 73625315 73625315 T C rs201026890 RECQL5 Nonsynonymous SNV K730E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.59 230767 chr10 74684396 74684396 G A rs142355615 OIT3 Nonsynonymous SNV R454Q 0.003 0 0 0 3 0 0 0 0 0 0 0 3.868 230768 chr12 18889224 18889224 T G rs775392782 PLCZ1 Nonsynonymous SNV E22D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.255 230769 chr12 18891215 18891215 G A rs201041077 CAPZA3 Nonsynonymous SNV V5M 0.002 0 0 0 2 0 0 0 0 0 0 0 8.641 230770 chr16 2812970 2812970 G A rs375822528 SRRM2 Nonsynonymous SNV R814H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.859 230771 chr16 3117545 3117545 C T rs993441075 IL32 Synonymous SNV L61L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.197 230772 chr3 132440732 132440732 G A NPHP3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.844 230773 chr4 7738890 7738890 G A rs150313747 SORCS2 Nonsynonymous SNV A1136T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.384 230774 chr3 142277509 142277509 G A rs376207579 ATR Synonymous SNV A550A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 230775 chr3 142681867 142681867 C G rs145977421 PAQR9 Synonymous SNV L104L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 230776 chr3 151112618 151112618 G A rs761647557 MED12L Nonsynonymous SNV R1893Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 230777 chr10 96709023 96709023 C T rs149158426 CYP2C9 Synonymous SNV F267F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.43 230778 chr5 146889115 146889115 G A DPYSL3 Nonsynonymous SNV P103S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.161 230779 chr12 50501857 50501857 G A GPD1 Synonymous SNV G276G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 230780 chr4 155287493 155287493 T A rs754285751 DCHS2 Nonsynonymous SNV D782V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.54 230781 chr16 20682892 20682892 T C rs767533533 ACSM1 Nonsynonymous SNV H238R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 230782 chr3 167045759 167045759 T C rs78885988 ZBBX Nonsynonymous SNV K278R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.365 230783 chr1 86200509 86200509 C T rs143597403 COL24A1 Nonsynonymous SNV G941S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 16.19 230784 chr3 169846764 169846764 T C rs754948305 PHC3 Nonsynonymous SNV Q487R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 230785 chr1 887874 887874 G A rs200380211 NOC2L Nonsynonymous SNV P370L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.19 230786 chr18 56936541 56936541 C G rs758557521 RAX Nonsynonymous SNV G246R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 230787 chr16 29908298 29908298 G A rs747268371 SEZ6L2 Nonsynonymous SNV A75V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.74 230788 chr16 30007664 30007664 - A rs34220380 INO80E Frameshift insertion Y15Ifs*51 0 0 0 1 0 0 0.003 0 0 0 0 0 230789 chr16 50707436 50707436 A G SNX20 Nonsynonymous SNV Y278H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 230790 chr16 52498096 52498096 G A rs371907581 TOX3 Nonsynonymous SNV T53I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 230791 chr16 55539312 55539312 C T rs112831239 MMP2 Synonymous SNV S597S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.97 230792 chr18 10675248 10675248 G A rs139155435 PIEZO2 Nonsynonymous SNV P2594S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 230793 chr3 195491972 195491972 C T rs746671610 MUC4 Nonsynonymous SNV R320K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 230794 chr5 170236728 170236728 G T GABRP Nonsynonymous SNV S330I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 230795 chr5 170819951 170819953 GAC - rs762739342 NPM1 D70del 0.001 0 0 0 1 0 0 0 0 0 0 0 230796 chr5 172196125 172196125 C G DUSP1 Nonsynonymous SNV K248N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 230797 chr5 175824615 175824615 T C rs150871711 CLTB Nonsynonymous SNV N86D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 230798 chr3 196054399 196054399 G A TM4SF19 Synonymous SNV S21S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 230799 chr3 19975454 19975454 C T rs769324206 EFHB Synonymous SNV R19R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 230800 chr5 137754750 137754750 G A rs768304416 KDM3B Nonsynonymous SNV D1182N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 230801 chr16 66436638 66436638 C T CDH5 Stop gain Q641X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 230802 chr18 28654762 28654762 G A rs140232809 DSC2 Nonsynonymous SNV A592V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.759 230803 chr3 27473082 27473082 G A SLC4A7 Nonsynonymous SNV P286L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 230804 chr18 28968394 28968394 G A rs551522777 DSG4 Nonsynonymous SNV R94Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 230805 chr3 32586499 32586499 A G rs116075738 DYNC1LI1 Nonsynonymous SNV V146A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 230806 chr18 30350519 30350519 G A rs763516391 KLHL14 Synonymous SNV D12D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.403 230807 chr12 58007272 58007274 AGA - rs764007893 ARHGEF25 K156del 0.002 0 0 0 2 0 0 0 0 0 0 0 230808 chr3 36902601 36902601 C T rs776665952 TRANK1 Nonsynonymous SNV V387I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.738 230809 chr12 58209772 58209772 C T rs753181730 AVIL Nonsynonymous SNV V18I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 230810 chr16 70507058 70507058 C T FCSK Nonsynonymous SNV R527C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 230811 chr16 70578415 70578415 A G rs376181305 SF3B3 Synonymous SNV R436R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.244 230812 chr5 141334838 141334838 C T rs143534629 PCDH12 Nonsynonymous SNV R860Q 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 Benign 27.7 230813 chr5 21752133 21752133 A G rs756967818 CDH12 Synonymous SNV L476L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.294 230814 chr18 46476561 46476561 T C rs536465216 SMAD7 Synonymous SNV P78P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.739 230815 chr19 10668481 10668481 C T rs140962586 KRI1 Nonsynonymous SNV A484T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.8 230816 chr16 74708886 74708886 A G rs28674093 MLKL Synonymous SNV H243H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.13 230817 chr16 74955903 74955903 G A WDR59 Synonymous SNV H276H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.838 230818 chr19 11098397 11098397 G A rs149573400 SMARCA4 Synonymous SNV P305P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.15 230819 chr20 2845817 2845817 C T rs149911458 VPS16 Synonymous SNV L532L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.03 230820 chr3 45152297 45152297 C G rs139531917 CDCP1 Nonsynonymous SNV G231A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 230821 chr5 36985955 36985955 C T rs376637245 NIPBL Synonymous SNV D891D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.225 230822 chr3 4704872 4704872 A G rs35047189 ITPR1 Synonymous SNV E497E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 8.224 230823 chr20 3329180 3329180 C T rs776998454 C20orf194 Nonsynonymous SNV A261T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 230824 chr5 154320697 154320697 G A rs145681843 MRPL22 Synonymous SNV L9L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.46 230825 chr18 72775174 72775174 C T rs563049323 ZNF407 Nonsynonymous SNV P1833S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 230826 chr5 167674964 167674964 C T rs760426380 TENM2 Synonymous SNV N2101N 0.003 0.005 0 0 4 2 0 0 0 0 0 0 5.381 230827 chr5 55851972 55851972 T C C5orf67 0.001 0 0 0 1 0 0 0 0 0 0 0 0.338 230828 chr11 1262175 1262175 C T rs772157360 MUC5B Synonymous SNV G1355G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 230829 chr11 1298434 1298434 C T rs150577484 TOLLIP Nonsynonymous SNV R78Q 0.003 0 0 0 4 0 0 0 0 0 0 0 12.44 230830 chr3 63981348 63981348 C T rs778679866 ATXN7 Nonsynonymous SNV S472L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 230831 chr20 44639253 44639253 T C MMP9 Nonsynonymous SNV I168T 0 0 0 2 0 0 0.005 0 0 0 0 0 29.1 230832 chr19 1011467 1011467 G A rs371140781 TMEM259 Synonymous SNV N372N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 230833 chr17 263748 263748 G A rs782392734 C17orf97 Nonsynonymous SNV E372K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.58 230834 chr5 76355468 76355468 T G rs138152040 AGGF1 Nonsynonymous SNV L582V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.63 230835 chr3 97887992 97887992 T C OR5H15 Nonsynonymous SNV I150T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 230836 chr5 7885819 7885819 A G rs747851597 MTRR Synonymous SNV T303T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.978 230837 chr3 98541179 98541179 C T rs199596311 DCBLD2 Synonymous SNV V241V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 230838 chr12 123650020 123650020 G A rs747612987 MPHOSPH9 Nonsynonymous SNV R866C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 230839 chr19 19774131 19774131 G A rs201103157 ATP13A1 Synonymous SNV V115V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 230840 chr11 19954844 19954844 G A rs61751935 NAV2 Nonsynonymous SNV G288S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.036 230841 chr4 103557077 103557077 G C rs2866413 MANBA Nonsynonymous SNV T701R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.538 230842 chr17 3658554 3658554 C T rs758069079 ITGAE Nonsynonymous SNV R414Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.17 230843 chr19 3827508 3827508 G A rs376526209 ZFR2 Synonymous SNV D332D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.127 230844 chr4 110791645 110791645 A G LRIT3 Synonymous SNV Q580Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.153 230845 chr17 4624249 4624249 C T rs142394302 ARRB2 Nonsynonymous SNV T190I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 230846 chr17 5461731 5461731 C T rs201522159 NLRP1 Nonsynonymous SNV R762H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.133 230847 chr4 1244606 1244606 C G rs144239349 CTBP1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 2.364 230848 chr17 7222389 7222389 C T rs370056380 NEURL4 Nonsynonymous SNV V1220I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.97 230849 chr4 139153538 139153538 - A rs113451557 SLC7A11 0 0 0.003 0 0 0 0 1 0 0 0 0 230850 chr13 32653064 32653064 A G rs777808672 FRY Nonsynonymous SNV N55S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.294 230851 chr19 3612188 3612188 G A CACTIN Synonymous SNV P670P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.032 230852 chr17 8141512 8141512 G A rs367666200 CTC1 Nonsynonymous SNV R162C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.21 230853 chr17 8701222 8701222 G A rs140109819 MFSD6L Nonsynonymous SNV S406L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 230854 chr4 166021848 166021848 C T rs200827928 TMEM192 Nonsynonymous SNV R124Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.63 230855 chr6 13592017 13592017 C T rs140792341 SIRT5 Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 230856 chr17 10323402 10323402 G A rs146669648 MYH8 Nonsynonymous SNV S48F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 230857 chr17 10538701 10538701 T C rs58343499 MYH3 Synonymous SNV E1385E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 3.032 230858 chr17 10539089 10539089 G A rs35230241 MYH3 Nonsynonymous SNV T1313I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 13.85 230859 chr5 82808164 82808164 C G VCAN Nonsynonymous SNV Q331E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 230860 chr13 92051316 92051316 T C rs201807103 GPC5 Nonsynonymous SNV W6R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 230861 chr5 145439661 145439661 G A rs778666297 SH3RF2 Synonymous SNV A596A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.405 230862 chr17 17698965 17698973 GGAGGAGGT - rs778226432 RAI1 E905_V907del 0 0 0 1 0 0 0.003 0 0 0 0 0 230863 chr17 17880919 17880919 C A DRC3 Nonsynonymous SNV Q3K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 230864 chr17 20916239 20916239 T C rs201217885 USP22 Nonsynonymous SNV N283S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.274 230865 chr6 154763251 154763251 G A rs149586390 CNKSR3 Synonymous SNV A136A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.433 230866 chr6 155465795 155465795 T G TIAM2 Nonsynonymous SNV S562R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.222 230867 chr19 9090795 9090795 G A rs778792098 MUC16 Synonymous SNV A340A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.13 230868 chr6 155606338 155606338 C T rs141542593 TFB1M Nonsynonymous SNV R207Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 230869 chr13 109550464 109550464 A G MYO16 Nonsynonymous SNV K587R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.746 230870 chr6 158565416 158565416 G A rs536508664 SERAC1 Nonsynonymous SNV P175L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.958 230871 chr4 2944050 2944050 C T rs77265212 NOP14 Synonymous SNV A640A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 230872 chr4 2954121 2954121 C T rs61740845 NOP14 Nonsynonymous SNV D251N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 230873 chr6 10874689 10874689 T C rs61734278 GCM2 Nonsynonymous SNV M354V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 0.001 230874 chr19 4338749 4338749 A T rs776307012 STAP2 Star tloss M1? 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.1 230875 chr19 11118597 11118597 C T rs747463080 SMARCA4 Nonsynonymous SNV P674L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.9 230876 chr4 39236493 39236493 C T rs200133722 WDR19 Synonymous SNV F627F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.89 230877 chr6 117127629 117127629 A G rs147927713 GPRC6A Synonymous SNV H413H 0 0.008 0 0 0 3 0 0 0 0 0 0 0.585 230878 chr4 40752866 40752866 C T rs751935928 NSUN7 Synonymous SNV N52N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 230879 chr6 168376929 168376929 - AGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGG HGC6.3 Stop gain F135Sfs*23 0.002 0 0 0 2 0 0 0 0 0 0 0 230880 chr19 13226148 13226148 T G TRMT1 Nonsynonymous SNV N196H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 230881 chr17 31091923 31091923 G A rs749952966 MYO1D Synonymous SNV A336A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.39 230882 chr6 169053717 169053718 GA - SMOC2 D366Hfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 230883 chr19 14749131 14749131 C T rs146799017 ADGRE3 Nonsynonymous SNV G298S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 230884 chr19 14829757 14829757 G A rs147710084 ZNF333 Nonsynonymous SNV G309S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 230885 chr17 33592182 33592182 G A SLFN5 Nonsynonymous SNV A651T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 230886 chr6 127836829 127836829 T C rs568688010 SOGA3 Nonsynonymous SNV M311V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.183 230887 chr6 128134406 128134406 C G rs141905910 THEMIS Nonsynonymous SNV K460N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 230888 chr17 33802228 33802228 T C rs200292758 SLFN12L Nonsynonymous SNV Q494R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 230889 chr5 172336688 172336688 C T rs146725470 ERGIC1 Synonymous SNV V58V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.33 230890 chr17 34252627 34252627 G C rs146673855 RDM1 Synonymous SNV T74T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.044 230891 chr6 131943094 131943094 A G MED23 Nonsynonymous SNV I141T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 230892 chr4 57180576 57180576 - CGAGCGGAGGGAGCGGAG KIAA1211 R308_E309insRERRER 0 0 0.003 0 0 0 0 1 0 0 0 0 230893 chr20 34204196 34204196 T G SPAG4 Nonsynonymous SNV L20R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.09 230894 chr6 136512948 136512948 G C rs374387209 PDE7B Nonsynonymous SNV E441D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 1.246 230895 chr6 26107858 26107858 T G rs137926997 H1-6 Nonsynonymous SNV K155T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 230896 chr17 37822316 37822316 G A rs149585781 TCAP Nonsynonymous SNV R153H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 230897 chr6 26108076 26108076 G A rs764461398 H1-6 Synonymous SNV S82S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.809 230898 chr6 138763218 138763218 C T rs759564075 NHSL1 Nonsynonymous SNV R189Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.98 230899 chr14 23511526 23511526 G A rs372195981 PSMB11 Nonsynonymous SNV R31Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 230900 chr6 139202112 139202112 G A rs772772800 ECT2L Nonsynonymous SNV D562N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.8 230901 chr6 26412955 26412955 G T BTN3A1 Nonsynonymous SNV R347S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.901 230902 chr17 38498850 38498850 G T rs902863788 RARA-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 14.08 230903 chr19 4694754 4694754 C T rs527299096 DPP9 Nonsynonymous SNV G479S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 230904 chr17 39137127 39137127 C T rs369156729 KRT40 Synonymous SNV A295A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 230905 chr6 151220016 151220016 C T MTHFD1L Stop gain Q222X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.056 230906 chr19 17627068 17627068 C G rs45597532 PGLS Nonsynonymous SNV D125E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.4 230907 chr4 76797597 76797597 C T rs140029551 PPEF2 Nonsynonymous SNV R388Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.9 230908 chr19 48800491 48800491 G A rs138562401 CCDC114 Synonymous SNV H585H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 3.812 230909 chr4 79350274 79350274 G A rs373137263 FRAS1 Synonymous SNV P1579P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.886 230910 chr5 35968144 35968144 G C rs763542182 UGT3A1 Stop gain Y96X 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 26.9 230911 chr20 49493052 49493052 C T rs149433489 BCAS4 Stop gain R206X 0 0.008 0 0 0 3 0 0 0 0 0 0 27.4 230912 chr6 159407455 159407455 T C rs142800871 RSPH3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 21.9 230913 chr6 159420718 159420718 G A rs549752682 RSPH3 Synonymous SNV P97P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 4.954 230914 chr4 83772585 83772585 T C SEC31A Nonsynonymous SNV Q737R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 230915 chr4 84200245 84200245 T C rs778926946 COQ2 Synonymous SNV P92P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.108 230916 chr6 407576 407576 G A rs756602021 IRF4 Nonsynonymous SNV R444H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 230917 chr4 87754474 87754474 G A rs374917571 SLC10A6 Nonsynonymous SNV P161S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 230918 chr4 88048234 88048234 C T rs758932525 AFF1 Synonymous SNV N587N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.518 230919 chr19 50548467 50548467 C T rs76128611 ZNF473 Nonsynonymous SNV P244L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 21.9 230920 chr17 42475361 42475361 G C rs370643934 GPATCH8 Nonsynonymous SNV Q1284E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 230921 chr6 161469770 161469770 G T rs745336443 MAP3K4 Nonsynonymous SNV D156Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27 230922 chr22 37693653 37693653 G A rs141741741 CYTH4 Nonsynonymous SNV D38N 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 21.8 230923 chr4 961765 961765 A C rs946051286 DGKQ Synonymous SNV R238R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 230924 chr22 39413827 39413827 C T rs201615015 APOBEC3C Synonymous SNV D77D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.08 230925 chr17 46971760 46971760 C G ATP5MC1 Nonsynonymous SNV I22M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.13 230926 chr17 48734503 48734503 A G ABCC3 Nonsynonymous SNV I149V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.056 230927 chr22 43275112 43275112 C T rs1062913 PACSIN2 Nonsynonymous SNV V324I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 230928 chr5 115151978 115151978 G A rs151045498 CDO1 Synonymous SNV A39A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 230929 chr14 72202102 72202102 A G rs766184659 SIPA1L1 Nonsynonymous SNV Y1706C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 230930 chr6 56347559 56347559 C T DST Synonymous SNV Q4485Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 230931 chr14 75278420 75278420 G A YLPM1 Nonsynonymous SNV E1776K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 230932 chr19 37619819 37619819 A G rs766813561 ZNF420 Synonymous SNV P571P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.022 230933 chr17 61554493 61554493 - GCTGCC rs532691783 ACE L18_L19insPL 0 0 0 1 0 0 0.003 0 0 0 0 0 230934 chr17 61562724 61562724 C A rs148491967 ACE Nonsynonymous SNV S109R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.66 230935 chr19 38798272 38798272 G A YIF1B Synonymous SNV I205I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.315 230936 chr17 63049718 63049718 C G rs141288232 GNA13 Nonsynonymous SNV E43Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.1 230937 chr5 138658658 138658658 - GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA MATR3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 230938 chr19 38959722 38959722 G C rs546323484 RYR1 Nonsynonymous SNV E1166D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.2 230939 chr19 38993270 38993270 G A rs758009575 RYR1 Nonsynonymous SNV D2580N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 230940 chr6 82923952 82923952 C G rs770294791 IBTK Nonsynonymous SNV L732F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.3 230941 chr6 86324567 86324567 T C rs777441295 SYNCRIP Synonymous SNV Q558Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 230942 chr19 40895494 40895494 C T rs34434715 HIPK4 Nonsynonymous SNV A106T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 230943 chr6 88763678 88763678 G C rs756940501 SPACA1 Nonsynonymous SNV V75L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.681 230944 chr17 71747492 71747492 T C rs554993709 LOC100134391 0 0 0 1 0 0 0.003 0 0 0 0 0 0.489 230945 chr6 91261811 91261811 G C rs750338877 MAP3K7 Nonsynonymous SNV P275R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 230946 chr19 42856391 42856391 G A rs756780589 MEGF8 Nonsynonymous SNV G978S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 230947 chr6 4069133 4069133 T A rs10485172 FAM217A Nonsynonymous SNV M442L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.043 230948 chr5 142586856 142586856 C T rs151153991 ARHGAP26 Synonymous SNV S694S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 230949 chr19 55777350 55777350 C T rs144372487 HSPBP1 Nonsynonymous SNV G312E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.62 230950 chr7 100417438 100417438 G T rs781490021 EPHB4 Synonymous SNV P346P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.155 230951 chr17 72959994 72959994 C G HID1 Nonsynonymous SNV K76N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 230952 chr5 148610217 148610217 G A rs376872688 ABLIM3 Nonsynonymous SNV E255K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 230953 chr19 45322009 45322009 C G rs556188971 BCAM Synonymous SNV P402P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.06 230954 chr17 76117744 76117744 C T rs61744921 TMC6 Nonsynonymous SNV G426R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.733 230955 chr17 76128092 76128092 G A rs201749146 TMC8 Synonymous SNV G93G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.237 230956 chr2 11817795 11817795 C T rs571047329 LPIN1 Nonsynonymous SNV R8C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.713 230957 chr19 45996512 45996512 - G rs778609489 RTN2 Frameshift insertion T314Yfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 230958 chr19 57325625 57325625 A G rs146296181 PEG3 Synonymous SNV A1240A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.265 230959 chr5 160114831 160114831 C T rs200273307 ATP10B Nonsynonymous SNV R128Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.37 230960 chr5 16672861 16672861 C T MYO10 Nonsynonymous SNV G1749D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 230961 chr6 127796573 127796573 C T SOGA3 Synonymous SNV R866R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.32 230962 chr19 57911114 57911114 A G rs76679836 ZNF548 Nonsynonymous SNV I487V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.751 230963 chr6 131927643 131927643 G C MED23 Nonsynonymous SNV P448R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.6 230964 chr5 176449836 176449836 G A ZNF346 Nonsynonymous SNV G33R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 230965 chr17 79994865 79994865 C T rs779141749 DCXR Nonsynonymous SNV V57M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 230966 chr5 179331768 179331768 G A rs769557594 TBC1D9B Nonsynonymous SNV R55C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 230967 chr19 757819 757819 G A rs145697605 MISP Synonymous SNV T291T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.92 230968 chr19 7585735 7585735 C A rs149057092 ZNF358 Nonsynonymous SNV P536H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 230969 chr19 7589886 7589886 C A rs141168886 MCOLN1 Nonsynonymous SNV T24N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 230970 chr19 7975204 7975204 C T rs28395773 MAP2K7 Synonymous SNV C131C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 15.45 230971 chr5 180651500 180651500 C G rs149437703 TRIM41 Synonymous SNV P167P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 230972 chr19 813519 813519 C T rs745307419 PLPPR3 Nonsynonymous SNV R431H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 230973 chr5 23977940 23977940 A G rs150191360 C5orf17 0 0 0.007 0 0 0 0 2 0 0 0 0 0.608 230974 chr7 123594292 123594292 A G rs774996576 SPAM1 Nonsynonymous SNV D223G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 230975 chr19 8196595 8196595 G A rs34408601 FBN3 Synonymous SNV C611C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.149 230976 chr5 32233899 32233899 G A rs766708987 MTMR12 Nonsynonymous SNV R552W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 230977 chr18 6992711 6992711 C T rs762036854 LAMA1 Nonsynonymous SNV E1673K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.45 230978 chr15 49031268 49031269 TT - CEP152 K1381Rfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 230979 chr19 8841461 8841461 G A rs61746162 OR2Z1 Nonsynonymous SNV R24H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 230980 chr15 57730496 57730496 A G CGNL1 Nonsynonymous SNV E100G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.081 230981 chr19 9045991 9045991 G T rs61746383 MUC16 Synonymous SNV T11880T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.302 230982 chr19 9048563 9048563 T C rs146750749 MUC16 Nonsynonymous SNV H11023R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 230983 chr12 112237687 112237687 C T rs139552439 MIR6761 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.07 230984 chr19 9049521 9049521 G T rs61742962 MUC16 Nonsynonymous SNV H10704N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.045 230985 chr19 9056756 9056756 G C rs61732918 MUC16 Synonymous SNV P10230P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.939 230986 chr19 9083821 9083821 A G rs115267382 MUC16 Nonsynonymous SNV F2665S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.65 230987 chr19 9084578 9084578 G T rs114419918 MUC16 Nonsynonymous SNV P2413T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 230988 chr19 9090383 9090383 G A rs115351589 MUC16 Nonsynonymous SNV H478Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.003 230989 chr19 9090544 9090544 G A rs115398015 MUC16 Nonsynonymous SNV T424M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 230990 chr12 114839705 114839705 C T rs745834660 TBX5 Synonymous SNV V6V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 230991 chr18 33048595 33048595 C A rs144256450 INO80C Nonsynonymous SNV A132S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 230992 chr19 9213212 9213212 T G rs138946014 OR7G2 Nonsynonymous SNV K257N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 230993 chr19 9213621 9213621 T C rs142283806 OR7G2 Nonsynonymous SNV Q121R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 230994 chr7 143701640 143701640 T C rs199897758 OR6B1 Nonsynonymous SNV V184A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 230995 chr19 55481626 55481626 A C NLRP2 Synonymous SNV R81R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 230996 chr19 9296801 9296801 T C rs141625717 OR7D2 Nonsynonymous SNV L115P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 230997 chr19 9868371 9868371 C G rs56872664 ZNF846 Nonsynonymous SNV R332P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.435 230998 chr1 100340787 100340787 G A rs17121464 AGL Nonsynonymous SNV R387Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.03 230999 chr7 149480638 149480638 C T rs188731977 SSPO 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 18.67 231000 chr5 76171301 76171301 G A rs143395167 S100Z Synonymous SNV Q39Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.615 231001 chr5 76171302 76171302 C T rs148288662 S100Z Stop gain R40X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 231002 chr7 150779621 150779621 C T rs773317576 TMUB1 Synonymous SNV E10E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 231003 chr19 56614487 56614487 G A ZNF787 Nonsynonymous SNV P34S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.297 231004 chr15 84651708 84651708 G A rs146998252 ADAMTSL3 Nonsynonymous SNV G1110R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.698 231005 chr18 72999832 72999832 G A rs149224107 TSHZ1 Nonsynonymous SNV V824M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 231006 chr2 209271774 209271774 C A rs142146558 PTH2R Synonymous SNV A2A 0.001 0 0.01 2 1 0 0.005 3 0 0 0 0 Benign 18.93 231007 chr2 210860221 210860221 G A rs199783352 UNC80 Nonsynonymous SNV E3203K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 231008 chr19 58863653 58863653 C T A1BG Synonymous SNV E203E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.346 231009 chr7 24902859 24902859 C T rs61756568 OSBPL3 Nonsynonymous SNV R277Q 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 28.1 231010 chrX 123199768 123199768 A G STAG2 Nonsynonymous SNV T690A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 231011 chr6 110300574 110300574 G A rs757587850 GPR6 Nonsynonymous SNV A87T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 231012 chr6 111680068 111680068 T C rs141654602 REV3L Synonymous SNV T2343T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.445 231013 chr7 141311071 141311071 A G AGK Nonsynonymous SNV D125G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.7 231014 chr1 1290071 1290071 G C rs112004810 MXRA8 Nonsynonymous SNV P213A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.133 231015 chr2 220344716 220344716 G A rs61743627 SPEG Synonymous SNV A1732A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.74 231016 chr7 141727421 141727421 G T MGAM Synonymous SNV R369R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.69 231017 chr2 220354359 220354359 G A rs192326487 SPEG Synonymous SNV K2873K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.335 231018 chr12 29670494 29670494 C T rs144452904 TMTC1 Nonsynonymous SNV V679M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 231019 chr19 2807595 2807595 C T rs755256017 THOP1 Nonsynonymous SNV R348C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 231020 chr7 43916422 43916422 G A rs746563483 URGCP Synonymous SNV G871G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 231021 chr6 127607878 127607878 T C rs142435817 RNF146 Synonymous SNV C40C 0 0 0.007 0 0 0 0 2 0 0 0 0 0.024 231022 chr7 44155467 44155467 C T rs756163235 POLD2 Nonsynonymous SNV V349M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 231023 chr7 44800052 44800052 G C ZMIZ2 Nonsynonymous SNV S341T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 231024 chr15 101718396 101718396 T A CHSY1 Nonsynonymous SNV I536L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 231025 chr1 153303401 153303422 CTGCAGCATTGGGTGGTATACC - PGLYRP4 G315_A321del 0 0.003 0 0 0 1 0 0 0 0 0 0 231026 chr6 138751866 138751866 G C rs924803038 NHSL1 Nonsynonymous SNV P1210A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 231027 chr10 104359254 104359254 A G rs1045258578 SUFU Synonymous SNV P325P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.65 231028 chr7 48312246 48312246 A T ABCA13 Nonsynonymous SNV I995F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 231029 chr1 154842200 154842214 GCTGCTGCTGCTGCT - KCNN3 Q76_Q80del 0 0.003 0 0 0 1 0 0 0 0 0 0 231030 chr1 154842214 154842214 - GCTGCTGCT KCNN3 Q80_P81insQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 231031 chr2 233899194 233899194 G A rs534031078 NEU2 Synonymous SNV P190P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.69 231032 chr7 154379725 154379725 G A rs145851911 DPP6 Synonymous SNV S331S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.138 231033 chr1 156051391 156051391 C T rs550056832 MEX3A Synonymous SNV T133T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 231034 chr7 155757331 155757331 G A rs754606652 LOC389602 Nonsynonymous SNV C211Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.417 231035 chr6 151161142 151161142 A G rs773455130 PLEKHG1 Nonsynonymous SNV S1051G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 231036 chr16 2017283 2017283 G A RNF151 Synonymous SNV G4G 0.003 0 0 0 4 0 0 0 0 0 0 0 10.55 231037 chr19 6828453 6828453 G A rs61750001 VAV1 Synonymous SNV E317E 0.004 0.005 0 3 5 2 0.008 0 0 0 0 0 Benign 3.188 231038 chr1 157068580 157068580 C T rs577101931 ETV3L Nonsynonymous SNV R135Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 231039 chr10 116060317 116060317 A T rs62641717 AFAP1L2 Nonsynonymous SNV S559T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.712 231040 chr19 7445851 7445851 G A rs895340367 ARHGEF18 Synonymous SNV S231S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.001 231041 chr6 15496915 15496915 A G rs142532617 JARID2 Nonsynonymous SNV K315E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 231042 chr7 21813584 21813584 C T rs375713138 DNAH11 Synonymous SNV N3101N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.734 231043 chr6 158923146 158923146 A G rs746525139 TULP4 Synonymous SNV A817A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 231044 chr10 120354198 120354198 A G PRLHR Nonsynonymous SNV S187P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 231045 chr19 7964875 7964875 C T rs372842190 LRRC8E Nonsynonymous SNV R361C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 231046 chr6 159188042 159188042 G A rs138347820 EZR Synonymous SNV N555N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 231047 chr2 241708576 241708576 T C KIF1A Nonsynonymous SNV T482A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.98 231048 chr19 7986920 7986920 G A rs975739511 SNAPC2 Nonsynonymous SNV V125M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 231049 chr7 751100 751100 G A PRKAR1B Synonymous SNV L15L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.082 231050 chr2 241903027 241903027 C T rs574882618 CROCC2 Nonsynonymous SNV R1048C 0 0 0 1 0 0 0.003 0 0 0 0 0 26 231051 chr2 241905146 241905146 G A rs773453809 CROCC2 Nonsynonymous SNV A1233T 0 0 0 2 0 0 0.005 0 0 0 0 0 4.434 231052 chr20 34827961 34827961 C T rs530167050 AAR2 Synonymous SNV F57F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 231053 chr6 161582525 161582525 A G rs142220296 AGPAT4-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.546 231054 chr12 53910821 53910821 T A rs562551383 LOC100652999 0.001 0 0 0 1 0 0 0 0 0 0 0 7.878 231055 chr12 53946332 53946332 G C ATF7, ATF7-NPFF Nonsynonymous SNV I46M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 231056 chr20 44050134 44050134 C T rs769570009 PIGT Nonsynonymous SNV P280L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 231057 chr2 26537347 26537347 C T rs143974124 ADGRF3 Nonsynonymous SNV S157N 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 231058 chr16 11940646 11940646 G A rs778990926 RSL1D1 Nonsynonymous SNV R147C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 231059 chr10 129923867 129923867 A - MKI67 L22Rfs*50 0.001 0 0 1 1 0 0.003 0 0 0 0 0 231060 chr19 9047006 9047006 A G rs747500492 MUC16 Nonsynonymous SNV M11542T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.003 231061 chr2 27911621 27911621 C G rs372818357 SLC4A1AP Nonsynonymous SNV P753R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.5 231062 chr6 24450118 24450118 G A rs61733858 GPLD1 Nonsynonymous SNV R449W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 231063 chr7 99159543 99159543 C T rs200204015 ZNF655 Nonsynonymous SNV R57C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 231064 chr16 20329654 20329654 A G GP2 Nonsynonymous SNV V222A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 231065 chr10 134712599 134712599 G A rs541348416 CFAP46 Nonsynonymous SNV A1028V 0.003 0 0 0 4 0 0 0 0 0 0 0 13.77 231066 chr20 49508584 49508584 A T rs750568080 ADNP Nonsynonymous SNV S889R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.44 231067 chr12 57181011 57181011 G A rs748272603 HSD17B6 Nonsynonymous SNV R280Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.7 231068 chr8 101020676 101020676 T C rs201745883 RGS22 Nonsynonymous SNV E582G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 231069 chr6 26033562 26033562 T G HIST1H2AB Nonsynonymous SNV I79L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 231070 chr7 44571712 44571712 G C rs143681066 NPC1L1 Synonymous SNV P838P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.496 231071 chr2 31420124 31420124 C A rs746998908 CAPN14 Nonsynonymous SNV W289L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 231072 chr7 4722008 4722008 A C rs112998729 FOXK1 Synonymous SNV P23P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 231073 chr20 55949674 55949674 C T rs374583497 RAE1 Synonymous SNV I279I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.73 231074 chr12 6167016 6167016 C A rs150146744 VWF Nonsynonymous SNV M576I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.77 231075 chr2 36787970 36787970 A T FEZ2 Nonsynonymous SNV N314K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 231076 chr1 175087805 175087805 C A rs767050328 TNN Nonsynonymous SNV T832K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 231077 chr2 37121057 37121057 G A rs150380250 STRN Synonymous SNV G305G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.432 231078 chr12 6426509 6426509 G A rs776235753 PLEKHG6 Nonsynonymous SNV R234Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 231079 chr6 32627763 32627763 A T rs1049219 HLA-DQB1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.403 231080 chr20 57766896 57766896 C A rs770614203 ZNF831 Synonymous SNV A274A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.161 231081 chr12 65633728 65633728 C T LEMD3 Synonymous SNV V646V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.9 231082 chr12 66245350 66245350 A G rs557471785 HMGA2-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 3.562 231083 chr12 66531907 66531907 C T rs765685858 TMBIM4 Nonsynonymous SNV A153T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 231084 chr10 21178804 21178804 A G rs1057523090 NEBL Synonymous SNV H76H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 1.618 231085 chr6 345905 345905 C T rs144845390 DUSP22 Synonymous SNV R80R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 231086 chr6 35260352 35260352 C T rs141883824 ZNF76 Nonsynonymous SNV T318M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 231087 chr20 61525165 61525165 C T rs115976084 DIDO1 Nonsynonymous SNV R985H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 231088 chr12 7559213 7559213 A G rs763646989 CD163L1 Synonymous SNV N344N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.586 231089 chr1 182763515 182763515 C T NPL Synonymous SNV F3F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.7 231090 chr7 73152746 73152746 G C rs782192308 ABHD11 Nonsynonymous SNV P67R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.3 231091 chr8 125094618 125094618 T C rs774793379 FER1L6 Nonsynonymous SNV I1437T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 231092 chr7 73153100 73153100 T C rs782222712 ABHD11 Nonsynonymous SNV M10V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.4 231093 chr6 39311116 39311116 C T rs564822623 KIF6 Nonsynonymous SNV R293H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.102 231094 chr6 39688530 39688530 G T rs538661685 KIF6 Nonsynonymous SNV R42S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 231095 chr6 41652709 41652709 T C TFEB Synonymous SNV E268E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 231096 chr16 57764895 57764895 C T rs115337501 DRC7 Nonsynonymous SNV T750M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.4 231097 chr8 135614688 135614688 A - ZFAT V363Afs*104 0.001 0 0 0 1 0 0 0 0 0 0 0 231098 chr21 32007713 32007713 G A KRTAP20-2 Nonsynonymous SNV G44D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 231099 chr8 143425747 143425747 G T rs760943727 TSNARE1 Nonsynonymous SNV P109T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 231100 chr7 134871776 134871776 G A rs770020249 WDR91 Nonsynonymous SNV S702L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 34 231101 chr7 135322793 135322793 C T NUP205 Synonymous SNV L1393L 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 12.22 231102 chr10 48390156 48390156 T A rs782211857 RBP3 Nonsynonymous SNV D241V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 231103 chr19 17337521 17337521 C G rs761673169 OCEL1 Nonsynonymous SNV P30R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 231104 chr6 52334254 52334254 C T rs144389178 EFHC1 Nonsynonymous SNV R421C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 231105 chr7 92764068 92764068 C T rs73710964 SAMD9L Nonsynonymous SNV R406Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.9 231106 chr19 17534540 17534540 G T rs147706400 MVB12A Nonsynonymous SNV G191V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 231107 chr7 98256589 98256589 C T NPTX2 Nonsynonymous SNV T334I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 231108 chr7 98506417 98506417 C T rs782137481 TRRAP Synonymous SNV D394D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.82 231109 chr7 141450138 141450138 C T rs553258138 SSBP1 Nonsynonymous SNV T144M 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 19.44 231110 chr8 144941495 144941495 G A rs782399863 EPPK1 Nonsynonymous SNV T1976M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 231111 chr21 43281849 43281849 G - rs754962919 PRDM15 F238Lfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 231112 chr10 58118399 58118399 T C rs749415741 ZWINT Nonsynonymous SNV D190G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 231113 chr21 43864694 43864694 C T rs200166504 UBASH3A Nonsynonymous SNV R559W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 231114 chr8 145582087 145582087 C G rs782602801 FBXL6 Synonymous SNV R7R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.24 231115 chr21 45483548 45483548 G A rs775859051 TRAPPC10 Nonsynonymous SNV R307H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 231116 chr6 88109361 88109361 T G rs112629837 LINC01590 0 0 0.017 0 0 0 0 5 0 0 0 0 0.497 231117 chr21 46876411 46876411 C T rs946925859 COL18A1 Nonsynonymous SNV L323F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.062 231118 chr21 47421968 47421968 G A rs138312247 COL6A1 Nonsynonymous SNV V684M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.423 231119 chr8 120854130 120854130 T G rs1023720262 DSCC1 Synonymous SNV L276L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.579 231120 chr21 47552176 47552176 G A rs771749652 COL6A2 Nonsynonymous SNV A924T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 231121 chr8 121383418 121383418 C A rs144764837 COL14A1 Nonsynonymous SNV T1780N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.7 231122 chr8 124195099 124195099 G A rs759954523 FAM83A Star tloss M1? 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.9 231123 chr10 73476058 73476058 C T C10orf105 Nonsynonymous SNV A13T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 231124 chr7 156469155 156469155 C T RNF32 Nonsynonymous SNV P299S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 231125 chr10 77806999 77806999 C T rs199857233 LRMDA Synonymous SNV N84N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.67 231126 chr10 82191847 82191847 A G rs753278261 PRXL2A Nonsynonymous SNV K228E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.72 231127 chr22 20785502 20785502 C G SCARF2 Synonymous SNV S219S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 231128 chr10 93778652 93778652 A G rs149366400 BTAF1 Nonsynonymous SNV H1608R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 231129 chr19 38385855 38385855 A G WDR87 Nonsynonymous SNV M163T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.76 231130 chr7 100633923 100633923 A T MUC12 Nonsynonymous SNV N27Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 231131 chr7 30492103 30492103 G C rs138903958 NOD1 Synonymous SNV P310P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.024 231132 chr22 25243727 25243727 G A rs201677185 SGSM1 Nonsynonymous SNV R89H 0.002 0 0 0 2 0 0 0 0 0 0 0 19.92 231133 chr10 97976458 97976458 A G rs145614752 BLNK Synonymous SNV D186D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.981 231134 chr7 107412529 107412529 T C SLC26A3 Nonsynonymous SNV K678E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 231135 chr8 54900721 54900721 A G rs757921440 TCEA1 Nonsynonymous SNV V119A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 231136 chr17 3119609 3119609 G A rs117976322 OR1A1 Nonsynonymous SNV G232D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21 231137 chr7 117304758 117304758 T C CFTR Nonsynonymous SNV V1327A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 231138 chr7 120935525 120935525 A C CPED1 Nonsynonymous SNV N967T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 231139 chr17 3967931 3967931 G A rs760938201 ZZEF1 Nonsynonymous SNV P1481L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.269 231140 chr7 128486412 128486412 G A rs149641783 FLNC Nonsynonymous SNV R1341Q 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 231141 chr8 86180715 86180715 A G rs767501880 CA13 Synonymous SNV R176R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.937 231142 chr22 34046575 34046575 G C rs535793068 LARGE1 Synonymous SNV R62R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.627 231143 chr17 4795793 4795793 G A rs754454987 MINK1 Synonymous SNV P708P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 231144 chr7 131913187 131913187 C T rs190791576 PLXNA4 Nonsynonymous SNV R549H 0 0 0.003 0 0 0 0 1 0 0 0 0 25 231145 chr19 44352653 44352653 A G rs187545887 ZNF283 Nonsynonymous SNV K495E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 231146 chr19 44384224 44384224 G A rs192710212 ZNF404 Nonsynonymous SNV S22L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.1 231147 chr19 44470613 44470613 G A rs140615014 ZNF221 Nonsynonymous SNV R320H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 231148 chr8 98289578 98289578 A C rs199697186 TSPYL5 Synonymous SNV G165G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.366 231149 chr19 44612136 44612136 C T rs138412513 ZNF224 Nonsynonymous SNV S608F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.5 231150 chr14 20823075 20823075 G C rs371220029 PARP2 Nonsynonymous SNV E291Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.67 231151 chr22 39146955 39146955 G A rs369299247 SUN2 Synonymous SNV T124T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 231152 chr9 104171804 104171804 A G rs143854569 ZNF189 Nonsynonymous SNV N571S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.247 231153 chr7 143013442 143013442 T C CLCN1 Nonsynonymous SNV L46P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 231154 chr19 45026848 45026848 G A rs374925599 CEACAM20 Nonsynonymous SNV A189V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.137 231155 chr7 143093510 143093510 G A rs200499248 EPHA1 Nonsynonymous SNV A622V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 231156 chr22 42180689 42180689 G T MEI1 Nonsynonymous SNV A1083S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 231157 chr11 1097834 1097834 G A rs370493404 MUC2 Synonymous SNV P2309P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.423 231158 chr19 47287400 47287400 T A rs748007457 SLC1A5 Nonsynonymous SNV Y2F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.405 231159 chr22 44892937 44892937 T C rs764076282 RTL6 Nonsynonymous SNV Q167R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 231160 chr14 24546515 24546515 C T rs200457089 CPNE6 Synonymous SNV G484G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.41 231161 chr7 150776054 150776054 C T rs761778464 FASTK Nonsynonymous SNV R46H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24 231162 chr14 24738142 24738142 G A RABGGTA Nonsynonymous SNV T258I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 231163 chr9 115969523 115969523 G A rs201405437 FKBP15 Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.226 231164 chr22 46739183 46739183 A G TRMU Synonymous SNV K91K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.972 231165 chr7 155251100 155251100 G C rs193264681 EN2 Nonsynonymous SNV E10Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 231166 chr22 46930647 46930647 G A CELSR1 Synonymous SNV S807S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.499 231167 chr22 46932455 46932455 C T CELSR1 Nonsynonymous SNV A205T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 231168 chr19 49079307 49079307 G A rs146090633 SULT2B1 Nonsynonymous SNV D46N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 231169 chr7 158697891 158697891 G A rs146718513 WDR60 Nonsynonymous SNV G9D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.025 231170 chr11 118963868 118963868 C T rs757873631 HMBS Nonsynonymous SNV R281C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 231171 chr7 98257841 98257841 C T rs553029244 NPTX2 Nonsynonymous SNV P399L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 24 231172 chr22 50941840 50941840 T G rs774758677 LMF2 Nonsynonymous SNV T677P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.481 231173 chr19 49641602 49641602 C T PPFIA3 Nonsynonymous SNV A665V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 231174 chr14 39703406 39703406 A - rs773988942 MIA2 K31Nfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 231175 chr11 121016709 121016709 A T rs772358158 TECTA Nonsynonymous SNV D1330V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 231176 chr7 2606777 2606777 T C rs868763422 IQCE Nonsynonymous SNV F22L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 231177 chr19 50139090 50139090 - AA rs760978291 RRAS Frameshift insertion S158Ffs*77 0 0 0 1 0 0 0.003 0 0 0 0 0 231178 chr19 50249923 50249958 CCTCCGGCTTCTGCTTCTCCTCCGGCTCCTGCTTCT - TSKS E254_E265del 0 0 0 1 0 0 0.003 0 0 0 0 0 231179 chr19 50354304 50354304 C G rs569405067 PTOV1 Nonsynonymous SNV P56R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.958 231180 chr3 197430455 197430455 G C RUBCN Nonsynonymous SNV N118K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.8 231181 chr19 50902153 50902153 A G rs761783892 POLD1 Synonymous SNV P15P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 3.364 231182 chrX 24225943 24225943 A G rs200720278 ZFX Nonsynonymous SNV N75S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.793 231183 chr19 51135688 51135688 C T rs141570463 SYT3 Nonsynonymous SNV A177T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.62 231184 chrX 30254959 30254959 G T rs138581582 MAGEB3 Nonsynonymous SNV W306C 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign 8.66 231185 chr9 127631690 127631690 C G rs1028817036 ARPC5L Nonsynonymous SNV P41A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.36 231186 chr7 36445826 36445826 C T rs148482760 ANLN Nonsynonymous SNV P175L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.6 231187 chrX 34148918 34148918 G A rs190486831 FAM47A Nonsynonymous SNV S493L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.069 231188 chr8 77776033 77776033 C T rs140816473 ZFHX4 Synonymous SNV N3361N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.758 231189 chr9 130224605 130224605 G A rs946372444 LRSAM1 Nonsynonymous SNV E161K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 231190 chrX 47307297 47307297 C T rs778701269 ZNF41 Synonymous SNV A538A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 231191 chr9 131196403 131196403 G A rs147009468 CERCAM Nonsynonymous SNV R331Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.227 231192 chr7 44685069 44685069 G C OGDH Nonsynonymous SNV K122N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 231193 chr11 126306731 126306731 A T rs775091341 KIRREL3 Synonymous SNV T509T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 231194 chr9 133787183 133787183 C T rs757075901 FIBCD1 Stop gain W314X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 231195 chr19 52719112 52719112 C T rs756949044 PPP2R1A Synonymous SNV A117A 0 0 0 1 0 0 0.003 0 0 0 0 0 21 231196 chr19 52793572 52793572 A G rs142890475 ZNF766 Synonymous SNV Q176Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 231197 chr19 52793580 52793580 A G rs146089184 ZNF766 Nonsynonymous SNV K179R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.07 231198 chr19 52869431 52869431 A G rs142300380 ZNF610 Nonsynonymous SNV K224R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 231199 chr19 52869648 52869648 G A rs139516691 ZNF610 Synonymous SNV T296T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.92 231200 chr19 52869997 52869997 C T rs141782780 ZNF610 Synonymous SNV L413L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.779 231201 chrX 84526516 84526516 A G rs138675194 ZNF711 Synonymous SNV T656T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.679 231202 chr19 52887601 52887603 ACG - rs148392772 ZNF880 R257del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 231203 chr19 52938364 52938364 C T rs188321362 ZNF534 Nonsynonymous SNV S30F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.377 231204 chrX 125686471 125686471 T C DCAF12L1 Nonsynonymous SNV R41G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 231205 chrX 135326861 135326861 C T rs62640387 MAP7D3 Nonsynonymous SNV R98Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.824 231206 chr7 6452463 6452463 G A rs138781757 DAGLB Synonymous SNV V387V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.744 231207 chr9 137778320 137778320 T C FCN2 Nonsynonymous SNV Y164H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 231208 chr14 78288812 78288812 T C rs142005080 ADCK1 Nonsynonymous SNV L57P 0.003 0 0 0 3 0 0 0 0 0 0 0 29 231209 chr11 2005796 2005796 C G rs771976887 MRPL23-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.104 231210 chrX 147014220 147014220 A G rs139029212 FMR1 Nonsynonymous SNV K273R 0.003 0 0 0 4 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 16.81 231211 chr9 139244140 139244140 C T rs375726077 GPSM1 Synonymous SNV D460D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 231212 chrX 148072763 148072763 G A rs61743576 AFF2 Synonymous SNV T920T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.413 231213 chr9 139348604 139348604 C G SEC16A Nonsynonymous SNV Q2011H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.777 231214 chr11 2424655 2424655 G A rs770505214 TSSC4 Synonymous SNV G264G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.289 231215 chr11 2426767 2426767 G A rs781163168 TRPM5 Synonymous SNV G1127G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.015 231216 chrX 153296526 153296526 G A rs63582063 MECP2 Synonymous SNV P263P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.66 231217 chr10 101464232 101464232 G A rs745552200 ENTPD7 Nonsynonymous SNV R536Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 231218 chr11 3150304 3150304 G A rs912459589 OSBPL5 Synonymous SNV P25P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.522 231219 chr9 125486516 125486516 T - OR1L4 L83Rfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 231220 chr10 102743882 102743882 T C rs149579572 SEMA4G Synonymous SNV S842S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.037 231221 chr10 102763357 102763357 C T rs141407617 LZTS2 Nonsynonymous SNV R168W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 231222 chr10 102766528 102766528 G A LZTS2 Nonsynonymous SNV R318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 231223 chr10 103345097 103345097 T C POLL Synonymous SNV K183K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.43 231224 chr9 127619878 127619878 C G rs372311355 WDR38 Nonsynonymous SNV T257R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.756 231225 chr15 32972028 32972028 A G ARHGAP11A-SCG5, SCG5 Synonymous SNV A96A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.158 231226 chr10 112641216 112641216 C T PDCD4 Nonsynonymous SNV T76I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 231227 chr8 10389018 10389018 C G rs377217136 PRSS55 Synonymous SNV R187R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.657 231228 chr11 45672039 45672039 G T CHST1 Nonsynonymous SNV N145K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 231229 chr9 32784670 32784670 C T rs771281712 TMEM215 Synonymous SNV D163D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 231230 chr9 131772399 131772399 G A rs11537525 SH3GLB2 Synonymous SNV H225H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.4 231231 chr19 58453599 58453599 T C ZNF256 Nonsynonymous SNV K193E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 231232 chr8 110984838 110984838 C T rs765741797 KCNV1 Nonsynonymous SNV V214I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.266 231233 chr10 117884951 117884951 T C rs139984974 GFRA1 Nonsynonymous SNV N63S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.352 231234 chr17 48735816 48735816 C T rs191757325 ABCC3 Synonymous SNV S211S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 231235 chr11 48285448 48285448 C T rs372952391 OR4X1 Synonymous SNV F12F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.533 231236 chr15 41672323 41672323 G A rs370147837 NUSAP1 Nonsynonymous SNV R359Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 231237 chr8 120577150 120577150 G A rs16892767 ENPP2 Nonsynonymous SNV S726L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.5 231238 chr8 120608106 120608106 G A rs142695308 ENPP2 Nonsynonymous SNV A370V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 231239 chr10 121662519 121662519 C T SEC23IP Nonsynonymous SNV S302L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 231240 chr8 123963780 123963780 A G rs146817834 ZHX2 Synonymous SNV P10P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.415 231241 chr9 4662477 4662477 C A rs369535277 PLPP6 Synonymous SNV G34G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 231242 chr8 12957172 12957172 C T DLC1 Nonsynonymous SNV G381R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 231243 chr8 133101840 133101840 G A HHLA1 Nonsynonymous SNV T152I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 231244 chr10 129903303 129903303 G A MKI67 Synonymous SNV D1907D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.35 231245 chr10 129904838 129904838 T C rs140039189 MKI67 Nonsynonymous SNV K1396E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 231246 chr11 489952 489952 C T rs150531471 PTDSS2 Synonymous SNV I186I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 231247 chr10 134165159 134165159 G A rs147065829 LRRC27 Nonsynonymous SNV R357H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.178 231248 chr20 9560968 9560968 A G rs767757338 PAK5 Nonsynonymous SNV Y272H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.61 231249 chr11 5067928 5067928 G A rs112206544 OR52J3 Nonsynonymous SNV R58Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 231250 chr9 91617077 91617077 G C rs138065168 S1PR3 Nonsynonymous SNV R321P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.386 231251 chr8 42175186 42175186 C A IKBKB Synonymous SNV G377G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 17.28 231252 chr9 95237024 95237024 - TCCTCATCATCA ASPN D50_E51insDDDE 0.003 0 0 1 3 0 0.003 0 0 0 0 0 231253 chr8 144680851 144680851 G A TIGD5 Nonsynonymous SNV D260N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 231254 chr10 15174924 15174924 C T rs149229412 NMT2 Nonsynonymous SNV R204H 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 34 231255 chr8 67786673 67786673 T A MCMDC2 Synonymous SNV A69A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.45 231256 chr8 144943383 144943383 C G rs370944860 EPPK1 Nonsynonymous SNV V1347L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.51 231257 chr8 71050459 71050459 G A rs373466036 NCOA2 Nonsynonymous SNV A977V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.2 231258 chr8 145052238 145052238 C T PARP10 Synonymous SNV V868V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.183 231259 chr15 69238320 69238320 G A rs139121625 SPESP1 Synonymous SNV P149P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.043 231260 chr11 5566109 5566109 G A rs773336622 OR52H1 Synonymous SNV V215V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.549 231261 chr8 145659526 145659526 C T rs781952840 TONSL Synonymous SNV E1074E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 231262 chr15 74625126 74625126 G A rs780711984 CCDC33 Synonymous SNV T219T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.47 231263 chr20 34240741 34240752 GGGCCGGGGCCG - rs746941434 RBM12 G834_P837del 0 0 0 1 0 0 0.003 0 0 0 0 0 231264 chr20 35517692 35517692 G A rs371243226 TLDC2 Nonsynonymous SNV R152H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.04 231265 chrX 135594087 135594087 G A rs201025173 HTATSF1 Nonsynonymous SNV G728D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 231266 chr20 42965886 42965886 C T rs757636233 R3HDML Nonsynonymous SNV T30I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 231267 chr20 43355856 43355856 C T rs755640038 CCN5 Nonsynonymous SNV R221C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 231268 chr20 44050056 44050056 G A rs139366969 PIGT Nonsynonymous SNV R254Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 231269 chr10 43701439 43701439 A G rs774912639 RASGEF1A Synonymous SNV D50D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.3 231270 chr8 21955672 21955672 G A rs200255721 FAM160B2 Nonsynonymous SNV D207N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.955 231271 chr10 45499437 45499437 C T rs1050233994 ZNF22 Synonymous SNV H207H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.542 231272 chr10 46967346 46967346 G A LOC101927699 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 231273 chrX 153040003 153040003 G C PLXNB3 Synonymous SNV V1269V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.232 231274 chr8 22438128 22438128 C T rs746852754 PDLIM2 Nonsynonymous SNV T4M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 231275 chr20 48256313 48256313 G A rs16994757 B4GALT5 Synonymous SNV G273G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.56 231276 chr8 27168732 27168732 C T TRIM35 Synonymous SNV V7V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 231277 chr10 52103723 52103723 C A SGMS1 Nonsynonymous SNV R51L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 231278 chrX 47466549 47466549 T C rs145911562 SYN1 Synonymous SNV K142K 0.002 0 0 2 2 0 0.005 0 0 0 0 1 Benign/Likely benign 6.631 231279 chr11 563316 563316 A G rs199651457 RASSF7 Nonsynonymous SNV Q317R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 231280 chr8 38125423 38125423 G A PLPP5 Nonsynonymous SNV R148C 0 0 0.007 0 0 0 0 2 0 0 1 0 13.13 231281 chr8 38126330 38126330 G C rs10102847 PLPP5 Nonsynonymous SNV H85D 0 0 0.007 0 0 0 0 2 0 0 1 0 1.37 231282 chr8 38260136 38260136 G A rs111985311 LETM2 Nonsynonymous SNV E312K 0 0 0.007 0 0 0 0 2 0 0 1 0 21.7 231283 chr20 60885139 60885139 - GGAGGGGTAGGAAG rs762469320 LAMA5 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 231284 chr20 60886573 60886573 C T rs199737407 LAMA5 Nonsynonymous SNV V3276I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 231285 chr10 61012568 61012568 T G FAM13C Nonsynonymous SNV E410A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 231286 chr9 95411803 95411803 G C IPPK Nonsynonymous SNV P116A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 231287 chr20 60904277 60904277 G A rs753734706 LAMA5 Synonymous SNV Y1384Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.575 231288 chr8 59404101 59404101 C T rs201171633 CYP7A1 Nonsynonymous SNV R483Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 231289 chr18 10540031 10540031 C A rs781604699 NAPG Nonsynonymous SNV Q139K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 231290 chr11 5701261 5701261 G T rs768816295 TRIM5 Nonsynonymous SNV D49E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 231291 chrX 71360185 71360185 C T rs41306117 NHSL2 Synonymous SNV P929P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.096 231292 chr8 62626879 62626879 - GCCGCTGCTGCTGCTGTT rs781622171 ASPH G17_S18insNSSSSG 0.001 0 0.003 0 1 0 0 1 0 0 0 0 231293 chr10 70426849 70426849 G C rs147704664 TET1 Synonymous SNV R1503R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.432 231294 chr20 60509227 60509227 G A rs143526387 CDH4 Synonymous SNV P794P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.506 231295 chrX 112022604 112022604 - GCAGCAGCAGCAGCTGGAGCAGCAGCA AMOT A926_P927insAAAPAAAAA 0.003 0.005 0 0 3 2 0 0 1 1 0 0 231296 chr10 72489961 72489961 A G rs755031904 ADAMTS14 Nonsynonymous SNV H353R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 231297 chr9 129458721 129458721 C T rs372183654 LMX1B Synonymous SNV F404F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 16.55 231298 chr8 73993350 73993350 G A rs371826794 SBSPON Nonsynonymous SNV P105S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 231299 chr8 75460831 75460831 G A MIR5681A, MIR5681B 0 0 0.003 0 0 0 0 1 0 0 0 0 2.604 231300 chr9 130251728 130251728 G A rs535634291 LRSAM1 Synonymous SNV A451A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign/Likely benign 10.25 231301 chr16 1497533 1497533 G A rs375281048 CLCN7 Nonsynonymous SNV R680W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 231302 chr8 86049708 86049708 T C rs147274148 LRRCC1 Nonsynonymous SNV L401P 0.001 0 0.01 0 1 0 0 3 0 0 0 0 25.1 231303 chr21 18933708 18933708 T C CXADR Synonymous SNV A249A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.452 231304 chr16 2018834 2018834 G A RNF151 Nonsynonymous SNV G216S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.02 231305 chr11 60708627 60708627 T A rs757946800 SLC15A3 Nonsynonymous SNV M415L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 231306 chr9 104433179 104433179 G A rs373293493 GRIN3A Synonymous SNV T505T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.784 231307 chr18 50734069 50734069 A G rs148819965 DCC Synonymous SNV L581L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.518 231308 chr10 91198558 91198558 A C rs777482453 SLC16A12 Nonsynonymous SNV F277L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 231309 chrX 53231138 53231138 C T rs61733871 KDM5C Synonymous SNV Q521Q 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Benign/Likely benign 10.87 231310 chrX 67941383 67941383 C T rs751854019 STARD8 Nonsynonymous SNV P672S 0.001 0.005 0 0 1 2 0 0 0 1 0 0 24.2 231311 chr9 117038047 117038047 G A rs148109242 COL27A1 Nonsynonymous SNV R1239Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 27.2 231312 chrX 92928126 92928126 - GCC rs757028815 NAP1L3 G59_S60insG 0.001 0.005 0 0 1 2 0 0 0 1 0 0 231313 chr21 37650528 37650528 C T rs750168856 DOP1B Synonymous SNV F1948F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.14 231314 chr16 3274106 3274106 C T rs139114447 ZNF200 Nonsynonymous SNV R324H 0.002 0 0 0 2 0 0 0 0 0 0 0 26 231315 chr4 83277965 83277965 A C HNRNPD Synonymous SNV A260A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.916 231316 chr4 83406763 83406763 A G TMEM150C Synonymous SNV H217H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.845 231317 chr21 47551990 47551990 C T rs777822883 COL6A2 Nonsynonymous SNV R862W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28 231318 chr18 77894642 77894642 - TCCTGCAGGCCAGATGAC rs757290275 ADNP2 G464_V465insQMTPAG 0.002 0.008 0.003 0 2 3 0 1 0 0 0 0 231319 chr19 694837 694837 C G rs143020154 PRSS57 Synonymous SNV S70S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.978 231320 chr9 126135826 126135826 C T rs777926255 CRB2 Synonymous SNV L1006L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.989 231321 chr11 66062305 66062305 G C TMEM151A Synonymous SNV S196S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.378 231322 chr9 130258261 130258261 C A rs150882646 LRSAM1 Nonsynonymous SNV Q573K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 231323 chr9 130271327 130271327 G A rs368130118 NIBAN2 Synonymous SNV D402D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 231324 chr11 6645367 6645367 T C rs751381319 DCHS1 Nonsynonymous SNV S2514G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.954 231325 chr9 130570837 130570837 T G FPGS Nonsynonymous SNV C249G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 231326 chr11 66638595 66638595 G A rs145333590 PC Synonymous SNV Y187Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 9.754 231327 chr19 1490222 1490222 C T PCSK4 Nonsynonymous SNV V42M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 231328 chr5 112437464 112437464 C T rs762280280 MCC Nonsynonymous SNV R267Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 231329 chr11 10647847 10647847 G A rs371956442 MRVI1 Nonsynonymous SNV P30L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.86 231330 chr10 123596282 123596282 T C rs148135505 ATE1 Nonsynonymous SNV Y307C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.4 231331 chr11 73602220 73602220 A G rs940330259 PAAF1 Nonsynonymous SNV T87A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 231332 chr22 26862194 26862194 T C rs150166679 HPS4 Nonsynonymous SNV H230R 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 231333 chr10 127697001 127697001 G A rs139642438 FANK1 Nonsynonymous SNV G238E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 16.84 231334 chr9 7013986 7013986 G A rs142903318 KDM4C Nonsynonymous SNV V468I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 23 231335 chr9 139257508 139257508 G A rs145299967 DNLZ Nonsynonymous SNV P101S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 231336 chr9 139652947 139652947 C T rs888930320 LCN8 Nonsynonymous SNV A17T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.746 231337 chr5 1335270 1335270 G T CLPTM1L Nonsynonymous SNV T233N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 231338 chr11 792011 792011 C T rs146300431 SLC25A22 Synonymous SNV A292A 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.65 231339 chr11 7960583 7960583 C A rs79575648 OR10A3 Nonsynonymous SNV W162L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 231340 chr11 800007 800007 C T rs367921253 PIDD1 Nonsynonymous SNV R761Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 231341 chr9 140174374 140174374 C T rs369157401 TOR4A Synonymous SNV T411T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.679 231342 chr9 140218283 140218283 C T rs200104609 EXD3 Nonsynonymous SNV R693H 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 24.4 231343 chr11 8251991 8251991 C T rs760736132 LMO1 Nonsynonymous SNV R28H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 231344 chr11 118764604 118764604 G A rs750797549 CXCR5 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.939 231345 chr22 26688727 26688727 G A rs150393362 SEZ6L Synonymous SNV A150A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.99 231346 chr19 5594116 5594116 G A SAFB2 Nonsynonymous SNV R665W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 231347 chr9 82242320 82242320 G A TLE4 Nonsynonymous SNV R99Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 231348 chr11 82909685 82909685 G T rs751759449 ANKRD42 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 231349 chr19 6452431 6452431 G A rs140701489 SLC25A23 Synonymous SNV C321C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.9 231350 chr9 90499982 90499982 C T rs142031925 SPATA31E1 Nonsynonymous SNV P194S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 231351 chr22 37485753 37485753 G A TMPRSS6 Nonsynonymous SNV S234F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 231352 chr22 37485754 37485754 A T TMPRSS6 Nonsynonymous SNV S234T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 231353 chr19 6751219 6751219 T C rs757366187 TRIP10 Nonsynonymous SNV I555T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.481 231354 chr9 24545500 24545500 G A rs781627831 IZUMO3 Synonymous SNV L50L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.411 231355 chr9 32427396 32427396 A G rs35370505 ACO1 Synonymous SNV L482L 0.003 0 0.014 0 3 0 0 4 0 0 0 0 7.404 231356 chr9 32635093 32635093 G A rs146968712 TAF1L Nonsynonymous SNV P162L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 231357 chr10 23729129 23729129 G T OTUD1 Nonsynonymous SNV G248V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.79 231358 chr11 9113011 9113011 - GCA SCUBE2 L22_P23insL 0.001 0 0 0 1 0 0 0 0 0 0 0 231359 chr19 8174519 8174519 G A FBN3 Synonymous SNV C1484C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.98 231360 chr22 41926710 41926710 T G rs772639191 POLR3H Nonsynonymous SNV E152A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.51 231361 chr22 42321479 42321479 C T rs746050423 TNFRSF13C Synonymous SNV G149G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.37 231362 chr22 42610929 42610929 T C rs748499160 TCF20 Nonsynonymous SNV N128S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 231363 chr5 14316775 14316775 G A TRIO Nonsynonymous SNV E552K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 231364 chr5 145862172 145862172 A T TCERG1 Nonsynonymous SNV D614V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 231365 chr11 124189178 124189178 T C rs763157502 OR8D2 Nonsynonymous SNV R306G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.874 231366 chr9 72501775 72501775 A C rs138837310 C9orf135 Synonymous SNV S58S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 231367 chr11 124748669 124748669 G A rs760546344 ROBO3 Nonsynonymous SNV M219I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 231368 chr16 88804171 88804171 G A rs145579632 PIEZO1 Synonymous SNV L358L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.43 231369 chr16 88808809 88808809 C T PIEZO1 Nonsynonymous SNV R61Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.95 231370 chr22 46671145 46671145 G A TTC38 Synonymous SNV G122G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 231371 chr11 126215263 126215263 C T rs146794173 DCPS Nonsynonymous SNV R264W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 231372 chr22 50487741 50487741 A C rs777393871 TTLL8 Nonsynonymous SNV C103W 0 0 0 1 0 0 0.003 0 0 0 0 0 2.659 231373 chr16 89655108 89655108 A T CPNE7 Nonsynonymous SNV N318I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 231374 chr16 89724227 89724227 T G SPATA33 Synonymous SNV A6A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.895 231375 chr9 90500111 90500111 C G rs529538067 SPATA31E1 Nonsynonymous SNV Q237E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 231376 chr16 89877386 89877386 G C rs139160837 FANCA Nonsynonymous SNV T126R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.694 231377 chr10 49951271 49951271 G A WDFY4 Nonsynonymous SNV E713K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 231378 chr17 10728591 10728591 C T rs139070814 PIRT Synonymous SNV S124S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.558 231379 chrUn_gl000220 122155 122155 - CTCCTT LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 231380 chr22 45312254 45312254 G A rs771019989 PHF21B Nonsynonymous SNV P145L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.6 231381 chr17 1183552 1183552 C A rs372635148 TRARG1 Nonsynonymous SNV A86E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 231382 chrX 105199550 105199550 A G rs369253049 NRK Synonymous SNV T1569T 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 0.005 231383 chr22 46655434 46655434 G A rs139403219 PKDREJ Synonymous SNV D1262D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 3.487 231384 chrX 114425732 114425732 C T rs191708687 RBMXL3 Synonymous SNV H576H 0 0 0.007 0 0 0 0 2 0 0 1 0 8.911 231385 chrX 32509493 32509493 T C rs748655300 DMD Synonymous SNV Q833Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.908 231386 chr19 11097136 11097136 G A SMARCA4 Synonymous SNV P209P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.74 231387 chrX 128605229 128605229 T C SMARCA1 Synonymous SNV E827E 0 0 0.007 0 0 0 0 2 0 0 1 0 2.47 231388 chr11 19970312 19970312 G A NAV2 Synonymous SNV R713R 0.001 0 0 0 1 0 0 0 0 0 0 0 12 231389 chr22 50636878 50636878 C T rs374252679 TRABD Nonsynonymous SNV A358V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.78 231390 chrX 140994276 140994276 A G rs58707730 MAGEC1 Synonymous SNV Q362Q 0 0.003 0.007 2 0 1 0.005 2 0 0 1 1 0.002 231391 chr10 69672605 69672605 A C rs747447296 SIRT1 Nonsynonymous SNV K275Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.33 231392 chr17 17696848 17696848 G A rs775499267 RAI1 Nonsynonymous SNV D196N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.8 231393 chr12 122340955 122340955 A G rs149556654 PSMD9 Nonsynonymous SNV N61S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.5 231394 chr10 70947478 70947478 C T rs374901378 SUPV3L1 Nonsynonymous SNV R49C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 35 231395 chrX 153218275 153218275 C T rs782758331 HCFC1 Synonymous SNV P1544P 0 0 0.007 0 0 0 0 2 0 0 1 0 12.48 231396 chr17 19188998 19188998 C T EPN2 Stop gain Q221X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 231397 chrX 21996100 21996100 A G rs144587141 SMS Synonymous SNV A123A 0.002 0 0.007 0 2 0 0 2 1 0 1 0 5.189 231398 chr17 20911279 20911279 G A rs773331562 USP22 Synonymous SNV S378S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.95 231399 chrX 75003544 75003544 C T rs145296701 MAGEE2 Nonsynonymous SNV R448H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 231400 chrX 75648778 75648813 TGCCGCCCACCGCCTCTGAGGTACCGAGCACCTCCC - rs782674320 MAGEE1 A156_T167del 0 0 0 1 0 0 0.003 0 0 0 0 0 231401 chr12 124256170 124256170 C T rs371494368 DNAH10 Synonymous SNV T107T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.88 231402 chr12 124421774 124421774 T C rs775158461 CCDC92 Nonsynonymous SNV Q259R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.424 231403 chr19 15220065 15220065 T C rs768472992 SYDE1 Nonsynonymous SNV L96S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 231404 chrX 99944903 99944903 C A SYTL4 Nonsynonymous SNV G288C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 231405 chr11 32956472 32956472 A G QSER1 Nonsynonymous SNV K1223R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 231406 chr10 75560100 75560100 C T rs764695907 ZSWIM8 Synonymous SNV A1627A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 231407 chrX 108718965 108718965 A C rs756024210 GUCY2F Nonsynonymous SNV F67L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 231408 chrX 71351055 71351055 G T rs199597770 RTL5 Nonsynonymous SNV S112R 0 0 0.007 2 0 0 0.005 2 0 0 1 1 16.75 231409 chrX 114541046 114541066 CACTCAGAGAGATCTCATGGT - rs782177187 LUZP4 E141_S147del 0 0 0 3 0 0 0.008 0 0 0 0 1 231410 chrX 117676910 117676910 C T rs45590139 DOCK11 Nonsynonymous SNV R81C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 231411 chrX 117770336 117770336 T C DOCK11 Nonsynonymous SNV V1305A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.72 231412 chr11 433389 433389 G T rs751366227 ANO9 Nonsynonymous SNV T92N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.057 231413 chr17 28407853 28407853 C T rs374387593 EFCAB5 Nonsynonymous SNV R1094C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 231414 chrY 6955390 6955390 G C rs376644298 TBL1Y Nonsynonymous SNV V455L 0 0 0.007 0 0 0 0 2 0 0 1 0 22.5 231415 chr19 17397353 17397353 C G rs137870697 ANKLE1 Nonsynonymous SNV R577G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 231416 chrX 132352090 132352090 T C TFDP3 Synonymous SNV A66A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.068 231417 chr11 46564513 46564513 G C rs753885370 AMBRA1 Nonsynonymous SNV P352A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 231418 chr17 32905987 32905987 G T rs146470032 C17orf102 0.002 0 0 0 2 0 0 0 0 0 0 0 0.763 231419 chr17 32906003 32906003 G T rs139866316 C17orf102 0.002 0 0 0 2 0 0 0 0 0 0 0 2.731 231420 chr10 103892846 103892846 G T PPRC1 Synonymous SNV R7R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.931 231421 chr2 128431254 128431254 - CA rs140836565 LIMS2 Frameshift insertion W25Cfs*90 0.001 0.008 0 0 1 3 0 0 0 0 0 0 231422 chr1 16070782 16070782 T G rs374481924 TMEM82 Nonsynonymous SNV L155R 0.003 0 0 0 3 0 0 0 0 0 0 0 28.7 231423 chr10 105428385 105428385 C T rs774400760 SH3PXD2A Synonymous SNV S151S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 231424 chr5 5457580 5457580 A G rs199994721 ICE1 Nonsynonymous SNV D276G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.21 231425 chrX 152686924 152686924 A T rs782229436 ZFP92 Synonymous SNV L363L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.402 231426 chr10 108336986 108336986 T - SORCS1 N1197Mfs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 231427 chr19 20045193 20045193 G A ZNF93 Nonsynonymous SNV G477R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 231428 chr10 114046111 114046111 G C rs372919237 TECTB Nonsynonymous SNV G149R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 231429 chr1 19209648 19209648 G A rs139340058 ALDH4A1 Synonymous SNV G156G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.95 231430 chr1 19415439 19415439 C T rs16862517 UBR4 Synonymous SNV L4748L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.08 231431 chr1 19638590 19638590 - AGACTACGCGAGACGCGGC rs548103097 AKR7A2 Frameshift insertion S10Cfs*114 0.001 0 0.003 0 1 0 0 1 0 0 0 0 231432 chr1 20027268 20027268 A G rs199915761 TMCO4 Nonsynonymous SNV Y459H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 231433 chr19 33098700 33098700 G A rs559038018 ANKRD27 Synonymous SNV N738N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.96 231434 chr17 38100723 38100723 C T rs896101329 LRRC3C Synonymous SNV G188G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.996 231435 chr12 4554435 4554435 A G FGF6 Nonsynonymous SNV L101P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 231436 chr19 35786746 35786746 G A MAG Nonsynonymous SNV G68R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 231437 chr19 35828831 35828831 G A rs138089449 CD22 Nonsynonymous SNV E126K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 231438 chr2 171638858 171638858 A C ERICH2 Nonsynonymous SNV Q276P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 12.64 231439 chr1 6273202 6273202 C T rs12063931 RNF207 Synonymous SNV Y537Y 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 13.4 231440 chr11 5461887 5461887 T A rs748141347 OR51I1 Synonymous SNV P286P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.064 231441 chr19 36357352 36357352 C T rs776516629 KIRREL2 Synonymous SNV A645A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.926 231442 chr11 55432990 55432990 G C rs775174807 OR4C6 Nonsynonymous SNV M116I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 231443 chr17 40998159 40998159 C T rs541434931 AOC2 Nonsynonymous SNV R506C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 231444 chr11 113295221 113295221 G T rs80030508 DRD2 Synonymous SNV G51G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.069 231445 chr19 38376968 38376968 G A rs577327467 WDR87 Nonsynonymous SNV P2448L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.231 231446 chr19 38379453 38379453 G A rs200964341 WDR87 Stop gain R1620X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 231447 chr10 24833389 24833389 G C rs144231647 KIAA1217 Synonymous SNV S1730S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.74 231448 chr10 25314048 25314048 T C THNSL1 Synonymous SNV Y632Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 231449 chr12 52994871 52994871 G A rs113036210 KRT72 Synonymous SNV R122R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.33 231450 chr12 53009982 53009982 G A rs116369374 KRT73 Synonymous SNV S210S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.368 231451 chr12 53162566 53162566 A G rs143013218 KRT76 Synonymous SNV G616G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.951 231452 chr1 12082188 12082188 A G rs767762811 MIIP Nonsynonymous SNV T51A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.911 231453 chr10 28233185 28233185 C T rs140569195 ARMC4 Nonsynonymous SNV R95Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.5 231454 chr10 3189817 3189817 G A rs570447323 PITRM1 Nonsynonymous SNV R630W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 231455 chr17 4446000 4446000 C T rs772181337 MYBBP1A Nonsynonymous SNV V977M 0.002 0 0 0 2 0 0 0 0 0 0 0 7.507 231456 chr12 53452903 53452903 C G rs142183380 TNS2 Nonsynonymous SNV T503S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.841 231457 chr2 196729215 196729215 C T rs200945065 DNAH7 Synonymous SNV A2388A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.533 231458 chr19 40719932 40719932 G C MAP3K10 Synonymous SNV A782A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.639 231459 chr10 44873213 44873213 G T rs17883898 CXCL12 Nonsynonymous SNV S136Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 231460 chr1 45800164 45800164 C T rs587780081 MUTYH Nonsynonymous SNV R19Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 23 231461 chr10 49986669 49986669 G A rs749784981 WDFY4 Synonymous SNV P1063P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.267 231462 chr2 206874440 206874440 G C INO80D Nonsynonymous SNV P541A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.9 231463 chr11 56757119 56757119 A G rs770773851 OR5AK2 Nonsynonymous SNV H244R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 231464 chr17 48941025 48941027 ATT - rs770720222 TOB1 N118del 0.002 0 0 0 2 0 0 0 0 0 0 0 231465 chr11 57996004 57996004 T A OR10Q1 Nonsynonymous SNV D115V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 231466 chr1 22166034 22166034 G A rs62642505 HSPG2 Nonsynonymous SNV A3241V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 7.408 231467 chr1 22202132 22202132 C T rs2501264 HSPG2 Nonsynonymous SNV A1099T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 8.454 231468 chr17 56357309 56357309 C T rs138269172 MPO Synonymous SNV P105P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.83 231469 chr1 24393559 24393559 C T rs369424736 MYOM3 Synonymous SNV P1125P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 231470 chr10 71060524 71060524 G A rs57118523 HK1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.682 231471 chr12 6782402 6782402 G C rs61762992 ZNF384 Synonymous SNV S242S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.316 231472 chr11 5968850 5968850 G A OR56A3 Nonsynonymous SNV D92N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.55 231473 chr19 46280768 46280768 C T rs150617093 DMPK Synonymous SNV P232P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 15.45 231474 chr19 46289485 46289485 C T DMWD Synonymous SNV K423K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.968 231475 chr19 46319172 46319172 A T SYMPK Nonsynonymous SNV D1208E 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.07 231476 chr17 61623246 61623246 G A KCNH6 Nonsynonymous SNV G954R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.62 231477 chr19 46733038 46733038 C T rs199745938 IGFL1 Nonsynonymous SNV P3S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.053 231478 chr11 134072765 134072765 C T rs768045090 NCAPD3 Nonsynonymous SNV E383K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.343 231479 chr19 47570220 47570220 G A rs758335179 ZC3H4 Nonsynonymous SNV A1102V 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 0.164 231480 chr19 47823601 47823601 C T rs200347626 C5AR1 Synonymous SNV G189G 0.003 0.003 0 5 3 1 0.013 0 0 0 0 0 12.99 231481 chr10 76287560 76287560 A C rs756344974 LOC102723439 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 0.981 231482 chr10 76287561 76287561 G C rs766579047 LOC102723439 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 1.638 231483 chr11 60776039 60776039 G A CD6 Nonsynonymous SNV G168D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.774 231484 chr10 81154101 81154101 G A rs73295299 ZCCHC24 Synonymous SNV S181S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.09 231485 chr12 79611338 79611338 G A rs374005304 SYT1 Synonymous SNV P13P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.593 231486 chr12 80749632 80749632 G A rs145653077 OTOGL Nonsynonymous SNV D1895N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.48 231487 chr11 61111639 61111639 G A TKFC Synonymous SNV L378L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.75 231488 chr6 158507892 158507892 G A rs201667755 SYNJ2 Nonsynonymous SNV A835T 0 0 0 2 0 0 0.005 0 0 0 0 0 21.8 231489 chr12 81007513 81007513 T C rs186848048 PTPRQ Synonymous SNV P1515P 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 5.672 231490 chr1 86342812 86342812 C A COL24A1 Nonsynonymous SNV G308V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 231491 chr11 62124593 62124593 T C rs762183576 ASRGL1 Synonymous SNV G156G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 231492 chr11 62297517 62297517 A G rs752517237 AHNAK Synonymous SNV L1458L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 231493 chr19 49797224 49797224 G A rs752269225 SLC6A16 Nonsynonymous SNV P493L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 4.645 231494 chr10 95849125 95849125 G C PLCE1 Nonsynonymous SNV E92Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 231495 chr1 34383736 34383736 G A rs146472405 CSMD2 Synonymous SNV Y293Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.388 231496 chr1 35227266 35227266 C T rs80358206 GJB4 Synonymous SNV F137F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.62 231497 chr10 97960791 97960791 T C rs368853735 BLNK Nonsynonymous SNV T215A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.734 231498 chr10 98744448 98744448 A G LCOR Nonsynonymous SNV K1411E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 231499 chr12 96181085 96181085 G A rs34114770 NTN4 Nonsynonymous SNV R73W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 231500 chr19 50905173 50905173 C T rs41563714 POLD1 Nonsynonymous SNV A152V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 231501 chr6 168369805 168369805 T C AFDN Nonsynonymous SNV Y1669H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.171 231502 chr11 290555 290555 G A rs765406788 PGGHG Nonsynonymous SNV S142N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 231503 chr13 103383208 103383208 T G rs936770499 CCDC168 Nonsynonymous SNV Q6613H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 231504 chr1 101004781 101004781 C A GPR88 Nonsynonymous SNV Q87K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 231505 chr11 65373428 65373428 G A rs765724275 MAP3K11 Synonymous SNV A576A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 231506 chr19 52909161 52909161 G A ZNF528 Nonsynonymous SNV G6E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.831 231507 chr17 74563620 74563621 TT - ST6GALNAC2 K291Vfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 231508 chr1 228487694 228487694 G A rs372219048 OBSCN Nonsynonymous SNV G4529E 0 0.005 0 0 0 2 0 0 0 0 0 0 24.3 231509 chr11 1017822 1017822 T A MUC6 Nonsynonymous SNV K1660M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.912 231510 chr19 52941176 52941176 G A ZNF534 Nonsynonymous SNV V127I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.128 231511 chr19 53116335 53116335 G A rs138103035 ZNF83 Nonsynonymous SNV R495C 0.002 0 0 0 2 0 0 0 0 0 0 0 18.83 231512 chr1 229584878 229584878 T G NUP133 Nonsynonymous SNV R1080S 0 0.005 0 0 0 2 0 0 0 0 0 0 29 231513 chr1 234744246 234744246 G A rs779898463 IRF2BP2 Nonsynonymous SNV T332I 0 0.005 0 0 0 2 0 0 0 0 0 0 17.41 231514 chr11 102825189 102825189 T G rs145243532 MMP13 Nonsynonymous SNV K170T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.09 231515 chr1 53320240 53320240 C T rs577232431 ZYG11A Nonsynonymous SNV P65L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.82 231516 chr1 54605242 54605242 G A rs41294792 CDCP2 Nonsynonymous SNV T434M 0 0.005 0 0 0 2 0 0 0 0 0 0 11.64 231517 chr1 54605271 54605271 T C rs144631287 CDCP2 Synonymous SNV P424P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.088 231518 chr11 115049380 115049380 A G rs146666877 CADM1 Synonymous SNV Y370Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 231519 chr11 117352729 117352729 C A rs140172597 DSCAML1 Synonymous SNV R836R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 231520 chr11 802850 802850 G A PIDD1 Nonsynonymous SNV L251F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 231521 chr19 57133248 57133248 G A rs780191454 ZNF71 Nonsynonymous SNV R198H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 231522 chr2 54081160 54081160 T A rs200854358 GPR75 Nonsynonymous SNV D245V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 231523 chr11 85445042 85445042 G A SYTL2 Nonsynonymous SNV P443S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 231524 chr11 540850 540850 C T rs372922076 LRRC56 Nonsynonymous SNV P56S 0.001 0 0 0 1 0 0 0 0 0 0 0 26 231525 chr12 1005845 1005845 G C rs768768919 WNK1 Nonsynonymous SNV E1816D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.533 231526 chr18 29122577 29122577 G T rs727504770 DSG2 Nonsynonymous SNV S699I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21 231527 chr1 94495152 94495152 G A ABCA4 Nonsynonymous SNV T1463I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.44 231528 chr1 94497487 94497487 C T rs146548044 ABCA4 Synonymous SNV P1325P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.86 231529 chr1 167381432 167381432 G A rs768456089 POU2F1 Nonsynonymous SNV A535T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 231530 chr14 105407646 105407646 G C rs753272855 AHNAK2 Synonymous SNV T4614T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.336 231531 chr18 43490486 43490486 C T rs749547713 EPG5 Nonsynonymous SNV R1402K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 231532 chr11 18637489 18637489 G A SPTY2D1 Nonsynonymous SNV T111I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.864 231533 chr12 109644612 109644612 C T rs772558737 ACACB Nonsynonymous SNV T1004I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 231534 chr11 19968000 19968000 C A rs148513005 NAV2 Synonymous SNV R670R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 231535 chr12 11138969 11138969 C T rs144926896 TAS2R50 Nonsynonymous SNV G164E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.305 231536 chr12 11149883 11149883 A G rs143389700 TAS2R20 Synonymous SNV L198L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.192 231537 chr11 31263006 31263006 A G DCDC1 Synonymous SNV Y404Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 231538 chr18 60025481 60025481 T C rs757239013 TNFRSF11A Nonsynonymous SNV L143S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 231539 chr12 121164847 121164847 G T rs774970155 ACADS Nonsynonymous SNV W22L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 231540 chr11 33563387 33563387 A G KIAA1549L Nonsynonymous SNV E93G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.408 231541 chr11 33563406 33563406 A G KIAA1549L Synonymous SNV K99K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 231542 chr18 61585272 61585272 A G rs765364852 SERPINB10 Nonsynonymous SNV N103S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 231543 chr1 146673043 146673043 G A rs143729816 FMO5 Nonsynonymous SNV R292C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 231544 chr14 24550572 24550572 G A NRL Nonsynonymous SNV A196V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 231545 chr11 36631654 36631654 A G C11orf74 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 231546 chr1 201020144 201020144 A G CACNA1S Nonsynonymous SNV F1361L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 30 231547 chr11 400614 400614 G C PKP3 Nonsynonymous SNV R549P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 231548 chr20 31427576 31427576 G A rs374092179 MAPRE1 Nonsynonymous SNV A171T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.43 231549 chr11 43919619 43919621 AAG - rs34844726 SEC14L1P1 0 0 0.037 0 0 0 0 11 0 0 0 0 231550 chr11 43920053 43920053 C T rs115010557 SEC14L1P1 0 0 0.01 0 0 0 0 3 0 0 0 0 3.423 231551 chr7 100647911 100647911 C T rs375954025 MUC12 Synonymous SNV S4689S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.874 231552 chr12 124811994 124811994 C T rs201513599 NCOR2 Nonsynonymous SNV A2372T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 231553 chr14 34269417 34269417 G A rs756566026 NPAS3 Nonsynonymous SNV R605Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 231554 chr20 31828147 31828147 C T BPIFA1 Synonymous SNV D179D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 231555 chr1 201437548 201437548 C G PHLDA3 Nonsynonymous SNV G123R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 231556 chr11 46408076 46408076 G C rs750526872 CHRM4 Nonsynonymous SNV S11W 0 0 0.003 0 0 0 0 1 0 0 0 0 7.756 231557 chr11 46727072 46727072 C T rs760644029 ZNF408 Nonsynonymous SNV R600C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 231558 chr20 35663768 35663768 T C rs769641293 RBL1 Nonsynonymous SNV I256V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.52 231559 chr11 48118377 48118377 A G MIR3161 0 0 0.003 0 0 0 0 1 0 0 0 0 1.078 231560 chr12 13242169 13242169 G A rs1023413065 GSG1 Nonsynonymous SNV R136W 0.001 0 0 0 1 0 0 0 0 0 0 0 12 231561 chr20 37546998 37546998 G A rs142971409 PPP1R16B Nonsynonymous SNV A423T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.345 231562 chr1 204429697 204429697 C A rs145468935 PIK3C2B Nonsynonymous SNV R468L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 231563 chr1 155979369 155979369 T G SSR2 Nonsynonymous SNV K172Q 0 0.005 0 0 0 2 0 0 0 0 0 0 28.8 231564 chr7 123595056 123595056 A G rs758393044 SPAM1 Synonymous SNV E320E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.679 231565 chr20 44470518 44470518 C T rs141643903 ACOT8 Nonsynonymous SNV V307M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 231566 chr14 58730455 58730455 G A rs17852654 PSMA3 Synonymous SNV R170R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15 231567 chr20 44841724 44841724 G A CDH22 Synonymous SNV Y314Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.667 231568 chr12 18891538 18891538 T C CAPZA3 Synonymous SNV N112N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 231569 chr1 156879552 156879552 G A rs76880868 PEAR1 Nonsynonymous SNV R474H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 231570 chr14 62462851 62462851 G T rs752082025 SYT16 Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.599 231571 chr7 132069973 132069973 G A PLXNA4 Synonymous SNV L485L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.276 231572 chr11 4944753 4944753 C T rs565245626 OR51G1 Nonsynonymous SNV V273I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 231573 chr14 64586304 64586304 C G rs374108464 SYNE2 Nonsynonymous SNV Q4334E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 231574 chr11 64602820 64602820 C T rs779735159 CDC42BPG Nonsynonymous SNV R651Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 231575 chr7 138603986 138603986 G A rs201427037 KIAA1549 Nonsynonymous SNV T129I 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.1 231576 chr1 223991029 223991029 G A rs778352020 TP53BP2 Nonsynonymous SNV H259Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.575 231577 chr7 141720785 141720785 C T rs191137461 MGAM Nonsynonymous SNV R154W 0 0 0 1 0 0 0.003 0 0 0 0 0 19.7 231578 chr7 141803232 141803232 C T rs538845634 MGAM Nonsynonymous SNV T1830M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.52 231579 chr1 161719839 161719839 T C DUSP12 Nonsynonymous SNV L83P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 231580 chr12 39724566 39724566 G T rs377193734 KIF21A Nonsynonymous SNV L1065I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 231581 chr1 165513878 165513878 G C rs149047999 LRRC52 Synonymous SNV S115S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.077 231582 chr11 66616790 66616790 C T rs527559823 PC Nonsynonymous SNV D1067N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 231583 chr14 77327104 77327104 C T rs562849581 LRRC74A Synonymous SNV D391D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.49 231584 chr1 228407071 228407071 G A OBSCN Synonymous SNV V900V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.452 231585 chr11 67165006 67165006 G A rs769388790 RAD9A Synonymous SNV A308A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 231586 chr12 42839864 42839881 GCAGGCCCCGCAGCCCCC - rs746897861 PPHLN1 P377Gfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 231587 chr12 4553351 4553351 A C rs752875740 FGF6 Nonsynonymous SNV V133G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 231588 chr11 67817214 67817214 C T rs769231419 TCIRG1 Nonsynonymous SNV R442C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 231589 chr12 48131824 48131824 C T rs746022894 RAPGEF3 Synonymous SNV Q836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 231590 chr12 48375126 48375126 C T rs769766820 COL2A1 Synonymous SNV P752P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.09 231591 chr14 91925172 91925172 T A rs200723204 PPP4R3A Nonsynonymous SNV E572D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 231592 chr1 172061982 172061982 T C rs377283187 DNM3 Synonymous SNV S504S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.782 231593 chr19 17716869 17716869 C A UNC13A Synonymous SNV A1702A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 231594 chr14 93650559 93650559 C G MOAP1 Nonsynonymous SNV C10S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 231595 chr1 175306758 175306758 G A rs61731114 TNR Nonsynonymous SNV T814I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.9 231596 chr12 50599845 50599845 G A rs199735854 LIMA1 Nonsynonymous SNV R53W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 231597 chr19 17985507 17985507 C T rs374215257 SLC5A5 Synonymous SNV S170S 0.002 0 0 0 2 0 0 0 0 0 0 0 12 231598 chr3 17109463 17109463 A G PLCL2 Nonsynonymous SNV E911G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 231599 chr1 178412029 178412029 G A RASAL2 Nonsynonymous SNV V235M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.62 231600 chr7 156802900 156802900 C T MNX1 Nonsynonymous SNV G49R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 231601 chr11 57077981 57077981 G A rs149275251 TNKS1BP1 Nonsynonymous SNV T735I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.94 231602 chr11 57511642 57511642 G A rs370477173 BTBD18 Synonymous SNV S701S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.777 231603 chr11 57512690 57512690 T C rs201912857 BTBD18 Nonsynonymous SNV E352G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 231604 chr19 19035739 19035739 C T rs543975170 DDX49 Synonymous SNV P326P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.73 231605 chr19 19770591 19770591 C T rs144224381 ATP13A1 Nonsynonymous SNV G166R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.3 231606 chr3 18427951 18427951 A G SATB1 Synonymous SNV N381N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.77 231607 chr15 23811997 23811997 G A MKRN3 Synonymous SNV R356R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.671 231608 chr11 59419950 59419950 G A rs767659762 PATL1 Synonymous SNV H471H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.42 231609 chr12 53225280 53225280 C T rs144814890 KRT79 Nonsynonymous SNV R203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 231610 chr11 6023849 6023849 C T rs183652867 OR56A4 Nonsynonymous SNV R125H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 231611 chr7 27213446 27213446 C A rs751339741 HOXA10 Synonymous SNV A160A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.95 231612 chr11 60703539 60703539 G A rs745704124 TMEM132A Synonymous SNV P745P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.445 231613 chr21 45223463 45223463 C T rs757958283 RRP1 Synonymous SNV A398A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 231614 chr21 45671138 45671138 G A rs532707874 DNMT3L-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 231615 chr7 34014335 34014335 A G BMPER Nonsynonymous SNV Q172R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 231616 chr1 249142475 249142475 G A rs541528988 ZNF672 Synonymous SNV T334T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 231617 chr1 202536943 202536943 T A rs770174106 PPP1R12B Nonsynonymous SNV L136Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 231618 chr11 62297175 62297175 T C rs115693058 AHNAK Nonsynonymous SNV M1572V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 7.87 231619 chr11 62364280 62364280 G A rs149598501 MTA2 Synonymous SNV T64T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.57 231620 chr11 62521139 62521139 T A rs149727586 ZBTB3 Nonsynonymous SNV T50S 0 0 0.01 0 0 0 0 3 0 0 0 0 0.724 231621 chr11 94245704 94245704 G A C11orf97 Nonsynonymous SNV E4K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.325 231622 chr1 204513724 204513724 T C rs372940927 MDM4 Nonsynonymous SNV V147A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.51 231623 chr1 204944417 204944417 G A rs184503324 NFASC Nonsynonymous SNV R537Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 231624 chr7 44104748 44104748 G A rs530105632 PGAM2 Synonymous SNV D127D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.695 231625 chr1 205628589 205628589 C T rs760168590 SLC45A3 Nonsynonymous SNV E479K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 231626 chr12 101769433 101769433 A G UTP20 Nonsynonymous SNV D2432G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 231627 chr11 64789222 64789222 C T rs61736632 ARL2 Synonymous SNV H123H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.23 231628 chr15 42858878 42858878 G A rs777814162 HAUS2 Nonsynonymous SNV R160H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 231629 chr12 102813337 102813337 C T rs151098426 IGF1 Nonsynonymous SNV A118T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 231630 chr15 43438733 43438733 C T rs758752965 TMEM62 Synonymous SNV V41V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.12 231631 chr15 43478405 43478405 T A CCNDBP1 Nonsynonymous SNV S75T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 231632 chr15 43478406 43478406 C T CCNDBP1 Nonsynonymous SNV S75F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 231633 chr19 36632024 36632024 G A rs550053789 CAPNS1 Synonymous SNV G37G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 231634 chr1 209824275 209824275 G A rs140470350 LAMB3 Synonymous SNV F5F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.71 231635 chr11 65357609 65357609 G A rs747427475 EHBP1L1 Nonsynonymous SNV E613K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 231636 chr11 65360583 65360583 C T rs781529350 KCNK7 Nonsynonymous SNV G273S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 231637 chr12 66700220 66700220 T A rs113022875 HELB Nonsynonymous SNV S235T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.184 231638 chr12 107372056 107372056 T C MTERF2 Nonsynonymous SNV Q146R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 231639 chr12 67688835 67688835 A G rs139902665 CAND1 Synonymous SNV V130V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.12 231640 chr22 24581145 24581145 C T rs370908368 SUSD2 Nonsynonymous SNV A289V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 231641 chr12 6952837 6952837 G A rs782054708 GNB3 Nonsynonymous SNV V158M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 231642 chr12 6969363 6969363 A G rs141933928 USP5 Synonymous SNV V393V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.667 231643 chr1 216166497 216166497 C A rs149553844 USH2A Nonsynonymous SNV G2224C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 30 231644 chr2 27566287 27566287 T C GTF3C2 Synonymous SNV A45A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.647 231645 chr11 65827271 65827271 G A SF3B2 Nonsynonymous SNV V474I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 231646 chr3 46415247 46415247 T C CCR5 Nonsynonymous SNV L285P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 231647 chr1 220970095 220970095 T A rs17850677 MTARC1 Nonsynonymous SNV M187K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 24 231648 chr19 38778569 38778569 C T rs141683432 SPINT2 Nonsynonymous SNV P54S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.36 231649 chr12 76786377 76786377 T G OSBPL8 Nonsynonymous SNV S280R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 231650 chr19 38827888 38827888 C T rs139891538 CATSPERG Nonsynonymous SNV A5V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.77 231651 chr11 67056944 67056944 G T ANKRD13D Nonsynonymous SNV G5C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 231652 chr7 64291965 64291965 T G rs147588810 ZNF138 Nonsynonymous SNV D89E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.36 231653 chr2 29451889 29451889 G A rs138668699 ALK Synonymous SNV A892A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.96 231654 chr2 38975266 38975266 A G rs377417351 SRSF7 Synonymous SNV S165S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.863 231655 chr12 92814805 92814805 T C rs181565725 CLLU1OS 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 231656 chr1 227504790 227504790 G A CDC42BPA Synonymous SNV L32L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.31 231657 chr11 73021410 73021410 C G ARHGEF17 Nonsynonymous SNV P576R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.005 231658 chr15 71549025 71549025 G T rs200521592 THSD4 Nonsynonymous SNV R329L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 231659 chr11 75439930 75439930 G A rs542149062 MOGAT2 Nonsynonymous SNV R249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.23 231660 chr22 39476965 39476965 G A rs967653451 APOBEC3G Nonsynonymous SNV E56K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 231661 chr11 76391348 76391348 C T rs980151277 GUCY2EP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.421 231662 chr1 228505745 228505745 C T rs762117147 OBSCN Nonsynonymous SNV R4668W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 231663 chr13 101710337 101710337 G A rs78817184 NALCN Synonymous SNV D1630D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 1.485 231664 chr11 77066762 77066762 C T rs199910150 PAK1 Synonymous SNV K241K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 231665 chr19 4432123 4432123 G A rs45499793 CHAF1A Nonsynonymous SNV A708T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.238 231666 chr22 42300962 42300962 G A rs150711654 SREBF2 Synonymous SNV T1063T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.415 231667 chr2 55561827 55561827 T C CCDC88A Synonymous SNV V710V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.158 231668 chr11 78565192 78565192 G A rs372323028 TENM4 Synonymous SNV D546D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.921 231669 chr15 78770658 78770658 C T rs147732146 IREB2 Synonymous SNV L155L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.77 231670 chr15 81187408 81187408 C T rs375239994 CEMIP Synonymous SNV Y388Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.928 231671 chr1 235922341 235922341 T C rs112601869 LYST Nonsynonymous SNV D2271G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.8 231672 chr2 69034515 69034515 C T rs3749130 ARHGAP25 Nonsynonymous SNV R186W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.4 231673 chr15 83932492 83932492 G A rs189311441 BNC1 Nonsynonymous SNV T497M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 231674 chr1 236722377 236722377 T C rs754814133 HEATR1 Nonsynonymous SNV N1610S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 231675 chr13 22178263 22178263 C G rs760995961 MICU2 Nonsynonymous SNV A9P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 231676 chr12 2055401 2055401 T A rs140587731 DCP1B Nonsynonymous SNV T609S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.36 231677 chr12 2058493 2058493 G A rs148983350 DCP1B Nonsynonymous SNV S511L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 231678 chr13 25480590 25480590 G C rs202058504 CENPJ Stop gain S529X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 28.8 231679 chr1 247607348 247607348 C T rs765925466 NLRP3 Nonsynonymous SNV T801M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 18.75 231680 chr2 85628792 85628792 G A rs145160691 CAPG Nonsynonymous SNV R71W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 231681 chr8 110631139 110631139 A G rs746478978 SYBU Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 8.609 231682 chr12 101368649 101368649 G A rs778988665 ANO4 Nonsynonymous SNV R195H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 231683 chr8 116617112 116617112 C T rs757182048 TRPS1 Nonsynonymous SNV E353K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 231684 chr12 101720979 101720979 G T UTP20 Nonsynonymous SNV Q1054H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 231685 chr12 27623573 27623573 C T rs758995977 SMCO2 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.332 231686 chr13 32906669 32906669 T C rs542343726 BRCA2 Nonsynonymous SNV Y352H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.001 231687 chr13 33247445 33247445 T C rs372050413 PDS5B Synonymous SNV D266D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.831 231688 chr12 104337574 104337574 G C HSP90B1 Nonsynonymous SNV S650T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 231689 chr12 32764077 32764077 C T rs750265200 FGD4 Synonymous SNV L216L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.64 231690 chr12 109670544 109670544 G A rs546114684 ACACB Nonsynonymous SNV G1358S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 231691 chr4 114254240 114254240 G T rs56173868 ANK2 Synonymous SNV A261A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.3 231692 chr19 49840457 49840457 C T rs201639028 CD37 Synonymous SNV L39L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 231693 chrX 41555918 41555918 A T rs745544205 GPR34 Nonsynonymous SNV R344S 0.002 0 0 0 2 0 0 0 1 0 0 0 14.92 231694 chr16 11650453 11650453 G A rs565009015 LITAF Nonsynonymous SNV T45M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 231695 chr19 50105169 50105169 C T rs991519777 PRR12 Synonymous SNV S1589S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 231696 chr19 50164060 50164060 G A rs764660394 IRF3 Nonsynonymous SNV R342W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.651 231697 chr13 51417610 51417610 C T rs142725081 DLEU7 Nonsynonymous SNV R58Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 231698 chr13 51796679 51796679 C A rs1038018253 FAM124A Stop gain C14X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 231699 chr4 123664102 123664102 A G rs767068756 BBS12 Nonsynonymous SNV Q352R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 231700 chr2 112922601 112922601 C G rs35747528 FBLN7 Nonsynonymous SNV P87A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.3 231701 chr19 50368466 50368466 C T rs34472250 PNKP Nonsynonymous SNV R139H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.58 231702 chr12 119617202 119617202 C A rs748320300 HSPB8 Nonsynonymous SNV R29S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 231703 chr8 139856381 139856381 G T COL22A1 Nonsynonymous SNV R227S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.44 231704 chr12 12037416 12037416 T C ETV6 Synonymous SNV L349L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.426 231705 chr2 1657512 1657512 C T rs200009119 PXDN Synonymous SNV P664P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.88 231706 chr3 25611331 25611331 G A RARB Synonymous SNV L177L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 231707 chr12 120602281 120602281 C T rs773227382 GCN1 Synonymous SNV L569L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 231708 chr19 50905071 50905071 C T rs780604625 POLD1 Nonsynonymous SNV S118F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.46 231709 chrX 83320106 83320106 T C rs149201069 RPS6KA6 Nonsynonymous SNV H662R 0.004 0 0.007 0 5 0 0 2 2 0 1 0 13.04 231710 chr19 5137348 5137348 C T rs761139604 KDM4B Nonsynonymous SNV A795V 0.003 0 0 0 4 0 0 0 0 0 0 0 26 231711 chr12 123333135 123333135 C T rs267603357 HIP1R Nonsynonymous SNV L94F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 231712 chr12 12483206 12483206 T C MANSC1 Nonsynonymous SNV M351V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 231713 chr2 20867309 20867309 C G GDF7 Nonsynonymous SNV P104A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.84 231714 chr2 21233425 21233425 A T rs769837347 APOB Nonsynonymous SNV D2105E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.555 231715 chr12 130831581 130831581 G A PIWIL1 Synonymous SNV L209L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 231716 chr2 25344562 25344562 C T rs1002045895 EFR3B Synonymous SNV I93I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 231717 chr12 132547070 132547093 CAGCAGCAGCAGCAGCAGCAACAA - rs752959637 EP400 Q2741_Q2748del 0 0 0.003 0 0 0 0 1 0 0 0 0 231718 chr2 152385774 152385774 C G rs201979610 NEB Nonsynonymous SNV D5528H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 231719 chr12 133249340 133249340 T G POLE Nonsynonymous SNV Q520P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 231720 chr2 152487261 152487261 A G NEB Synonymous SNV L2988L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 231721 chr19 53086467 53086467 T G ZNF701 Nonsynonymous SNV N385K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.636 231722 chr19 53117162 53117162 T C ZNF83 Nonsynonymous SNV H219R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.182 231723 chr16 2809646 2809646 G A rs200535115 SRRM2 Nonsynonymous SNV D273N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 231724 chr12 18891318 18891318 G A rs117330813 CAPZA3 Nonsynonymous SNV R39H 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22.3 231725 chr12 2022196 2022196 G C rs202054008 CACNA2D4 Nonsynonymous SNV A140G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 231726 chr12 22643116 22643116 C T rs775889125 C2CD5 Synonymous SNV A433A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 231727 chr14 21499194 21499194 C T TPPP2 Nonsynonymous SNV T66M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 231728 chr8 21980090 21980090 C G HR Nonsynonymous SNV Q679H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 25.3 231729 chr14 21789488 21789496 CAGAGACCA - rs753345079 RPGRIP1 E514_T516del 0.001 0 0 0 1 0 0 0 0 0 0 0 231730 chr2 33505176 33505176 G T rs148622840 LTBP1 Nonsynonymous SNV Q695H 0 0.005 0 0 0 2 0 0 0 0 0 0 15.82 231731 chr14 22038001 22038001 C T rs80295194 OR10G3 Nonsynonymous SNV R292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 231732 chr16 314169 314169 C T rs751322019 FAM234A Nonsynonymous SNV T448M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 231733 chr16 31473321 31473321 C T rs759469105 ARMC5 Nonsynonymous SNV P185L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 231734 chr2 175436685 175436685 G C rs369736015 WIPF1 Nonsynonymous SNV P283R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.53 231735 chr12 33003706 33003706 T C rs199571473 PKP2 Nonsynonymous SNV I458V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 231736 chr12 333238 333238 G A rs201579126 SLC6A13 Nonsynonymous SNV R319C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 231737 chr14 23817824 23817824 C G rs747309659 SLC22A17 Nonsynonymous SNV V195L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 231738 chr14 23867953 23867953 G A rs146591697 MYH6 Synonymous SNV Y625Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.112 231739 chr12 41967530 41967530 G T rs779652687 PDZRN4 Nonsynonymous SNV K725N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 231740 chr2 42931383 42931383 G T rs371772169 MTA3 Nonsynonymous SNV A295S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.978 231741 chr4 2460484 2460484 G A rs540601763 CFAP99 Nonsynonymous SNV R399Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 231742 chr12 65268990 65268990 C T TBC1D30 Stop gain R546X 0.003 0 0 0 4 0 0 0 0 0 0 0 44 231743 chr2 54482772 54482772 C T rs371422603 TSPYL6 Nonsynonymous SNV V173M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.203 231744 chr14 34269091 34269099 CGACAGCGA - rs911824014 NPAS3 D499_S501del 0.001 0 0 0 1 0 0 0 0 0 0 0 231745 chr14 35343797 35343797 T A rs145210630 BAZ1A Nonsynonymous SNV H5L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 231746 chr12 50745513 50745513 G A rs201296648 FAM186A Nonsynonymous SNV S1701L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.123 231747 chr19 5679396 5679396 A T MICOS13 Synonymous SNV P95P 0.003 0 0 0 4 0 0 0 0 0 0 0 3.618 231748 chr10 126136419 126136419 G A rs770935783 NKX1-2 Nonsynonymous SNV T171I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 231749 chr16 56906617 56906617 C T SLC12A3 Synonymous SNV G338G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 231750 chr10 13375927 13375927 G A rs143333501 SEPHS1 Synonymous SNV D83D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 231751 chr2 71190437 71190437 A G rs766481835 ATP6V1B1 Nonsynonymous SNV N352S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.24 231752 chr2 71650459 71650459 C T rs746573438 ZNF638 Nonsynonymous SNV S1272L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 231753 chr19 58905907 58905907 G A rs564673381 RPS5 Nonsynonymous SNV R164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 231754 chr16 67236671 67236671 G A rs774884707 ELMO3 Nonsynonymous SNV G514S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 231755 chr16 67469656 67469656 C T rs781425510 HSD11B2 Nonsynonymous SNV R131C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 231756 chr16 67841045 67841045 C G TSNAXIP1 Synonymous SNV P21P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.937 231757 chr2 72406471 72406471 T C rs188707447 EXOC6B Nonsynonymous SNV H765R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.45 231758 chr2 73486118 73486118 C T rs199625082 FBXO41 Nonsynonymous SNV G874S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 26.7 231759 chr16 68056469 68056469 G C rs772520804 DDX28 Nonsynonymous SNV R213G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 231760 chr16 69187560 69187560 G A rs200662372 UTP4 Nonsynonymous SNV R276Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 231761 chr12 55820958 55820958 - A rs769942775 OR6C76 Frameshift insertion H312Tfs*2 0 0.003 0.007 0 0 1 0 2 0 0 0 0 231762 chr10 14941289 14941289 A T rs1001946357 DCLRE1C Nonsynonymous SNV L487Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 231763 chr14 65220354 65220354 G A rs191850273 SPTB Nonsynonymous SNV T2168M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 231764 chr12 57351011 57351011 G A rs760481504 RDH16 Nonsynonymous SNV T79M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 231765 chr2 96955677 96955677 T C rs149616320 SNRNP200 Nonsynonymous SNV T934A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 9.753 231766 chr10 27702950 27702950 - G rs777000681 PTCHD3 Frameshift insertion R77Pfs*258 0.002 0 0 0 2 0 0 0 0 0 0 0 231767 chr14 74411436 74411436 C T rs997993404 FAM161B Nonsynonymous SNV R176H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.445 231768 chr12 6421519 6421519 T A rs112557734 PLEKHG6 Nonsynonymous SNV Y43N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 231769 chr19 831742 831742 C T rs774343181 AZU1 Synonymous SNV C207C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.99 231770 chr2 219305463 219305463 G C rs142335723 VIL1 Nonsynonymous SNV V750L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 231771 chr16 80718786 80718786 G C rs373182913 CDYL2 Nonsynonymous SNV L89V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 231772 chr16 81051383 81051383 G C CENPN Nonsynonymous SNV D80H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 231773 chr12 64854085 64854085 C G TBK1 Synonymous SNV V68V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 231774 chr2 102476215 102476215 G A rs186857052 MAP4K4 Synonymous SNV P531P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.43 231775 chr2 110065838 110065838 A C SH3RF3 Nonsynonymous SNV S681R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 231776 chr12 7053317 7053317 G C rs782168213 C12orf57 Nonsynonymous SNV L11F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 231777 chr2 220419288 220419304 CGGTGACGGTGGCCGTC - OBSL1 D1590Tfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 231778 chr16 843199 843199 G T rs199722031 CHTF18 Nonsynonymous SNV R576L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.993 231779 chr4 83978500 83978500 C T rs771914503 COPS4 Synonymous SNV H218H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.05 231780 chr13 25743791 25743791 C T rs369844022 AMER2 Nonsynonymous SNV G656E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 231781 chr9 115652463 115652463 C T rs61742087 SLC46A2 Nonsynonymous SNV G167S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.16 231782 chr2 120194737 120194737 C T rs376850578 TMEM37 Synonymous SNV A98A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.43 231783 chr12 82870423 82870423 C T rs772771362 METTL25 Synonymous SNV L438L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.831 231784 chr2 127657561 127657561 C G TEX51 Nonsynonymous SNV H120Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.627 231785 chr10 50533935 50533935 C T C10orf71 Synonymous SNV H1115H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 231786 chr16 88497125 88497125 G A rs773405012 ZNF469 Nonsynonymous SNV G1083R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.126 231787 chr12 86374181 86374181 A C MGAT4C Nonsynonymous SNV V108G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 231788 chr9 117063988 117063988 C T rs142505089 COL27A1 Synonymous SNV P1612P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.16 231789 chr16 88500536 88500536 A G ZNF469 Nonsynonymous SNV S2220G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 231790 chr12 89918265 89918265 G A rs200087000 GALNT4 Nonsynonymous SNV A21V 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 231791 chr16 88744891 88744891 G A rs150467929 SNAI3 Nonsynonymous SNV R282W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 231792 chr9 123924448 123924448 G C rs576226225 CNTRL Nonsynonymous SNV E1222D 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.4 231793 chr19 9226220 9226220 T A OR7G1 Nonsynonymous SNV T74S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 231794 chr9 124526082 124526082 G A rs141706892 DAB2IP Nonsynonymous SNV A338T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 231795 chr14 99723869 99723869 G A rs757013819 BCL11B Synonymous SNV D121D 0.003 0 0 0 4 0 0 0 0 0 0 0 3.023 231796 chr13 44456406 44456406 C T LACC1 Synonymous SNV S216S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 231797 chr2 136873047 136873047 A G rs747963649 CXCR4 Synonymous SNV L155L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.852 231798 chr10 5948352 5948352 G A rs138692839 FBH1 Synonymous SNV T96T 0.003 0.005 0 0 4 2 0 0 0 0 0 0 8.484 231799 chr12 97330558 97330558 A G rs1055191483 NEDD1 Nonsynonymous SNV I208V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 231800 chr1 103352454 103352454 G A rs768263147 COL11A1 Synonymous SNV D1473D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.463 231801 chr1 10684484 10684484 C G rs147706488 PEX14 Nonsynonymous SNV A192G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.14 231802 chr13 50656668 50656668 C T DLEU1 0.002 0 0 0 2 0 0 0 0 0 0 0 7.592 231803 chr5 118482976 118482976 G T rs773033523 DMXL1 Nonsynonymous SNV V908F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.223 231804 chr5 118532132 118532132 C T rs774495023 DMXL1 Synonymous SNV F2508F 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 11.62 231805 chr13 108862525 108862525 A G rs754406950 LIG4 Synonymous SNV Y364Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 231806 chr13 111077188 111077188 C T rs370490372 COL4A2 Synonymous SNV P96P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 231807 chr1 110882077 110882077 G T rs770679512 RBM15 Nonsynonymous SNV R17L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 231808 chr13 114303693 114303693 T A rs138269602 ATP4B Nonsynonymous SNV K291M 0 0 0.007 0 0 0 0 2 0 0 0 0 25.3 231809 chr10 75302838 75302838 C T rs774886535 USP54 Nonsynonymous SNV D143N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 231810 chr9 134388668 134388668 C T rs35242383 POMT1 Synonymous SNV H223H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 7.879 231811 chr15 42117539 42117539 G T rs771984211 MAPKBP1 Nonsynonymous SNV G1201W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 231812 chr17 19284541 19284541 C T rs927355456 MAPK7 Nonsynonymous SNV A201V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 231813 chr2 174086170 174086170 G C rs1046382746 MAP3K20 Nonsynonymous SNV G427A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.08 231814 chr3 12586909 12586909 A T rs564772547 MKRN2OS Nonsynonymous SNV Y19N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 231815 chr3 13361332 13361332 C T rs139592362 NUP210 Nonsynonymous SNV V1772M 0.002 0 0 0 2 0 0 0 0 0 0 0 7.278 231816 chr15 43512935 43512935 C T rs149249456 EPB42 Nonsynonymous SNV S30N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.622 231817 chr15 43571925 43571925 C T rs780733471 TGM7 Nonsynonymous SNV G526R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 231818 chr15 43622174 43622174 G A rs374787628 LCMT2 Synonymous SNV L172L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 231819 chr1 12064067 12064067 G C rs12069578 MFN2 Nonsynonymous SNV M393I 0.001 0 0 0 1 0 0 0 0 0 0 0 15 231820 chr10 99140576 99140576 C T rs141282535 RRP12 Nonsynonymous SNV A405T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.59 231821 chr2 179753265 179753265 A - CCDC141 Y466Tfs*33 0 0.003 0 0 0 1 0 0 0 0 0 0 231822 chr2 179753267 179753267 C G rs763250535 CCDC141 Nonsynonymous SNV G465A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 231823 chr10 99342085 99342085 C T rs145093754 ANKRD2 Nonsynonymous SNV P336L 0.001 0 0 0 1 0 0 0 0 0 0 0 30 231824 chr1 147091706 147091706 C T BCL9 Nonsynonymous SNV A582V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 231825 chr13 74420073 74420073 G A rs150481048 KLF12 Synonymous SNV P187P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 231826 chr15 52517110 52517110 T G rs764837998 MYO5C Nonsynonymous SNV K1145T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 231827 chr15 52545601 52545601 C T rs551086561 MYO5C Synonymous SNV T483T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.95 231828 chr15 58284966 58284966 C T rs144628261 ALDH1A2 Synonymous SNV T149T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 231829 chr2 190592797 190592797 A G ANKAR Nonsynonymous SNV T951A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.293 231830 chr5 150925448 150925448 T C rs757834219 FAT2 Nonsynonymous SNV D1747G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 231831 chr17 34869538 34869538 G C MYO19 Nonsynonymous SNV L251V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 231832 chr2 197645351 197645351 C T rs200627790 GTF3C3 Nonsynonymous SNV V384M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 231833 chr15 65226377 65226377 G A rs141471183 ANKDD1A Synonymous SNV S270S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.302 231834 chr17 35986106 35986106 A G DDX52 Nonsynonymous SNV F324S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 231835 chr5 156671389 156671389 G C ITK Nonsynonymous SNV Q450H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.62 231836 chr3 44762771 44762771 T G ZNF502 Synonymous SNV S154S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.116 231837 chr17 37790254 37790254 A G PPP1R1B Synonymous SNV E84E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.888 231838 chr3 46477720 46477720 - TA rs770569791 LTF Frameshift insertion P656Lfs*77 0.001 0 0 0 1 0 0 0 0 0 0 0 231839 chr15 72581503 72581503 T G rs138555565 CELF6 Nonsynonymous SNV N220H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 14.06 231840 chr9 35811856 35811856 - TGCAGTAGCTGCAGCAGCTGA rs761460140 SPAG8 A62_A63insSAAAATA 0 0 0 1 0 0 0.003 0 0 0 0 0 231841 chr9 35906575 35906575 - CACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTC HRCT1 H103_H104insLHHLHHHLHHLHHH 0 0 0 1 0 0 0.003 0 0 0 0 0 231842 chr15 73566157 73566157 A G rs752835933 NEO1 Nonsynonymous SNV I991V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 231843 chr3 48630625 48630625 C T rs147177277 COL7A1 Nonsynonymous SNV V198I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Uncertain significance 18.08 231844 chr1 156883194 156883194 G A rs141857901 PEAR1 Synonymous SNV P841P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.485 231845 chr1 156890742 156890742 G T LRRC71 Nonsynonymous SNV E49D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 231846 chr2 210560430 210560430 T C MAP2 Nonsynonymous SNV V1175A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 231847 chr1 157736673 157736673 C T rs34445670 FCRL2 Synonymous SNV L417L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.115 231848 chr15 74481467 74481467 C A rs886051475 STRA6 Nonsynonymous SNV W360L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 231849 chr2 214204970 214204970 A G rs752382481 SPAG16 Nonsynonymous SNV N207S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 231850 chr14 23025868 23025868 T C rs75311372 LINC02332 0 0 0.003 0 0 0 0 1 0 0 0 0 2.05 231851 chr14 23075366 23075366 C - rs565680365 ABHD4 R227Afs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 231852 chr15 75500868 75500868 C A rs149317889 C15orf39 Nonsynonymous SNV R827S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.682 231853 chr3 49939856 49939856 C T rs781591594 MST1R Nonsynonymous SNV R396Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 231854 chr3 50225353 50225353 C A SEMA3F Synonymous SNV G622G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.537 231855 chr9 6536172 6536172 C T rs144937031 GLDC Synonymous SNV S910S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.12 231856 chr14 23389990 23389990 A C rs1045688894 PRMT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.141 231857 chr14 23457191 23457191 C T rs758103437 C14orf93 Nonsynonymous SNV R373H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 231858 chr11 111625233 111625233 G A rs201214975 PPP2R1B Nonsynonymous SNV P213L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 231859 chr1 159283467 159283467 A G rs143276088 OR10J3 Nonsynonymous SNV M328T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.43 231860 chr3 52562075 52562075 G A rs775427316 NT5DC2 Synonymous SNV D262D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 231861 chr1 160063588 160063588 G A rs113700625 IGSF8 Synonymous SNV A272A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.73 231862 chr14 35249467 35249467 C T rs200120822 BAZ1A Nonsynonymous SNV E689K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 231863 chr14 36302204 36302204 G A rs200116011 BRMS1L Nonsynonymous SNV S85N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 231864 chr17 40314299 40314299 C T rs77381258 KCNH4 Synonymous SNV E875E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.35 231865 chr17 40342279 40342279 G A rs138138681 GHDC Nonsynonymous SNV R463W 0.002 0 0 0 2 0 0 0 0 0 0 0 5.469 231866 chr3 58260425 58260425 C T rs201196765 ABHD6 Synonymous SNV L188L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 231867 chr5 39202249 39202249 C A rs61734281 FYB1 Nonsynonymous SNV G282C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 231868 chr17 40831590 40831590 C G rs140554625 CCR10 Nonsynonymous SNV S357T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.18 231869 chr14 73712419 73712419 G A rs374976977 LOC101928123 0.001 0 0 0 1 0 0 0 0 0 0 0 6.852 231870 chr17 41958856 41958856 G A rs76832034 MPP2 Synonymous SNV I250I 0.003 0 0 0 3 0 0 0 0 0 0 0 16.98 231871 chr14 50649223 50649223 A G rs35396088 SOS2 Synonymous SNV S272S 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 Benign 10.91 231872 chr15 89392823 89392823 C T rs756126577 ACAN Synonymous SNV D629D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.42 231873 chr17 42327874 42327874 A G rs45497993 SLC4A1 Synonymous SNV D896D 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 2.377 231874 chr17 42328598 42328598 C T rs5026 SLC4A1 Nonsynonymous SNV V862I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 13.77 231875 chr17 42331968 42331968 G A rs5021 SLC4A1 Synonymous SNV H651H 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.2 231876 chr14 75329370 75329370 A G rs372314878 PROX2 Synonymous SNV L390L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.699 231877 chr2 233208117 233208117 T C rs142369101 DIS3L2 Synonymous SNV D548D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.127 231878 chr14 75580954 75580954 G A NEK9 Synonymous SNV S275S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 231879 chr11 122848495 122848495 G A rs759077853 BSX Synonymous SNV S188S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.268 231880 chr14 58332289 58332289 G T rs77375107 SLC35F4 Synonymous SNV P28P 0 0 0.01 0 0 0 0 3 0 0 0 0 7.744 231881 chr2 234698579 234698579 G A rs746390899 MROH2A Nonsynonymous SNV E164K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.6 231882 chr14 81658933 81658938 TCTTCA - rs766671193 GTF2A1 D286_E287del 0.001 0 0 0 1 0 0 0 0 0 0 0 231883 chr1 175293513 175293513 G A rs61756251 TNR Synonymous SNV Y979Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.412 231884 chrX 128948720 128948720 T G ZDHHC9 Nonsynonymous SNV N180T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.6 231885 chr2 237300662 237300662 C T rs773270449 IQCA1 Nonsynonymous SNV R416K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 231886 chr14 65220298 65220298 G A rs199938084 SPTB Nonsynonymous SNV R2187C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 231887 chr16 1129073 1129073 G A rs142579686 SSTR5 Nonsynonymous SNV A69T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.559 231888 chr14 65521381 65521381 G A rs762695149 CHURC1-FNTB, FNTB Nonsynonymous SNV V386I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 231889 chr14 93708871 93708871 G A rs145129249 BTBD7 Synonymous SNV T698T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.23 231890 chr16 114922 114922 G A rs768349876 RHBDF1 Nonsynonymous SNV T31M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.792 231891 chr17 48267382 48267382 C G COL1A1 Nonsynonymous SNV A847P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 231892 chr14 74185606 74185606 G A rs762534747 ELMSAN1 Synonymous SNV A1080A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.72 231893 chr2 241660421 241660421 G A rs200902828 KIF1A Nonsynonymous SNV P1492L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 231894 chrX 15540517 15540517 T C rs202245028 BMX Nonsynonymous SNV S187P 0 0 0 2 0 0 0.005 0 0 0 0 1 8.66 231895 chr14 77705950 77705950 C T rs144979575 TMEM63C Nonsynonymous SNV H271Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 231896 chr16 1552072 1552072 C T TELO2 Synonymous SNV D499D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 231897 chr16 1706279 1706279 C T rs201633864 CRAMP1 Synonymous SNV D507D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.016 231898 chr11 16068114 16068114 G A rs369713124 SOX6 Synonymous SNV D496D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.76 231899 chr3 5257572 5257572 G A rs146217902 EDEM1 Nonsynonymous SNV R648Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 231900 chr11 17333643 17333643 A C rs963583455 NUCB2 Nonsynonymous SNV R296S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 231901 chr15 33300268 33300268 C G rs746704055 FMN1 Nonsynonymous SNV A501P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 231902 chr17 61555453 61555453 G A ACE Synonymous SNV R137R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 231903 chr14 93649611 93649611 A C rs368748632 MOAP1 Nonsynonymous SNV L326W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 231904 chr3 9987989 9987989 C G rs374355414 PRRT3 Synonymous SNV G956G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.385 231905 chr16 2126533 2126533 C T rs45517267 TSC2 Synonymous SNV P728P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.84 231906 chr14 94756290 94756290 C T rs145668993 SERPINA10 Nonsynonymous SNV R214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.603 231907 chr17 62050068 62050068 A G SCN4A Nonsynonymous SNV M45T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.976 231908 chrX 69646306 69646306 G A rs147569276 GDPD2 Nonsynonymous SNV R71H 0.002 0.005 0 4 2 2 0.01 0 0 1 0 1 11.87 231909 chr3 126723842 126723842 C T rs368596147 PLXNA1 Synonymous SNV S578S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.89 231910 chr4 144435341 144435341 C T SMARCA5-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 8.472 231911 chr14 98435688 98435688 T A rs541518375 LINC01550 0 0 0.01 0 0 0 0 3 0 0 0 0 8.412 231912 chr15 100269687 100269687 C T rs180886521 LYSMD4 Nonsynonymous SNV E117K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 231913 chr1 203743706 203743706 T C rs201987851 LAX1 Nonsynonymous SNV M349T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 231914 chr11 2608803 2608803 G A rs756571615 KCNQ1 Nonsynonymous SNV A378T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 231915 chr15 42278046 42278046 G A rs751010290 PLA2G4E Synonymous SNV S731S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 231916 chr6 110110847 110110847 G A rs758496638 FIG4 Nonsynonymous SNV R716H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 231917 chr3 20027369 20027369 C T rs754417260 PP2D1 Nonsynonymous SNV V466I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 231918 chr16 30978349 30978349 C T rs754972133 SETD1A Synonymous SNV L884L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.19 231919 chr11 3249116 3249116 C T rs779850836 MRGPRE Nonsynonymous SNV R305Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 231920 chr15 33261557 33261557 T A rs376503929 FMN1 Nonsynonymous SNV E559V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 231921 chr3 141299252 141299252 A G RASA2 Nonsynonymous SNV I545V 0.002 0 0 0 2 0 0 0 0 0 0 0 24 231922 chr17 72205355 72205355 G A rs949286588 RPL38 Nonsynonymous SNV V32M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 231923 chr15 33825550 33825550 C A rs183923528 RYR3 Nonsynonymous SNV D131E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 231924 chr16 3349792 3349792 G A rs150368295 TIGD7 Stop gain R275X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 231925 chr16 3714450 3714450 G T rs200472693 TRAP1 Nonsynonymous SNV A412E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 231926 chr11 400577 400577 C G rs369216125 PKP3 Nonsynonymous SNV R537G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 231927 chr11 43413087 43413087 A G TTC17 Synonymous SNV L164L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.171 231928 chr15 48493739 48493739 C T rs190880430 CTXN2 Nonsynonymous SNV A81V 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 31 231929 chr17 72999642 72999642 G A CDR2L Nonsynonymous SNV G291S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 231930 chr3 39373950 39373950 G C rs140996751 CCR8 Nonsynonymous SNV C43S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.072 231931 chr3 40442418 40442418 A G rs753967078 ENTPD3 Nonsynonymous SNV T68A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27 231932 chr3 40503519 40503521 TAC - rs111899316 RPL14 T149del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 231933 chr11 46689338 46689338 C T rs201643926 ATG13 Synonymous SNV T235T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 231934 chr3 41959979 41959979 A G rs199942847 ULK4 Nonsynonymous SNV C233R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 231935 chr15 42169008 42169030 TGTGTGCAGCTGGGTGCTGGCTC - rs571677827 SPTBN5 Q1276Hfs*21 0 0 0.007 0 0 0 0 2 0 0 0 0 231936 chr16 48250161 48250161 A C rs748399124 ABCC11 Nonsynonymous SNV F272C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 231937 chr17 74014188 74014188 G A rs140728093 EVPL Stop gain R531X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.16 231938 chr16 5110380 5110380 G T rs373894585 C16orf89 Nonsynonymous SNV T139N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.3 231939 chr6 146720262 146720262 G A rs746003735 GRM1 Nonsynonymous SNV R696Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 231940 chr15 45387258 45387258 C T rs748461702 DUOX2 Nonsynonymous SNV R1424H 0 0 0.01 0 0 0 0 3 0 0 0 0 29.3 231941 chr15 45398748 45398748 T G rs759558827 DUOX2 Nonsynonymous SNV E641D 0 0 0.01 0 0 0 0 3 0 0 0 0 7.627 231942 chr1 224495853 224495853 C T rs61729123 NVL Nonsynonymous SNV R46Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 231943 chr15 50751261 50751261 C T rs114541731 USP8 Synonymous SNV L57L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.34 231944 chr15 52252137 52252137 T G LEO1 Nonsynonymous SNV L373F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 231945 chr6 151779522 151779522 G A rs756810057 ARMT1 Synonymous SNV L69L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 231946 chr15 55664144 55664144 C T rs35101262 CCPG1 Nonsynonymous SNV V185I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.24 231947 chr15 70348693 70348693 G A TLE3 Synonymous SNV P354P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.21 231948 chr16 67237030 67237030 T A ELMO3 Nonsynonymous SNV W562R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 231949 chr3 49158953 49158953 G C rs763346168 LAMB2 Nonsynonymous SNV L1725V 0 0.003 0 3 0 1 0.008 0 0 0 0 0 13.13 231950 chr17 7756620 7756620 C T KDM6B Synonymous SNV S1610S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 231951 chr16 68055505 68055505 T C rs368049595 DDX28 Nonsynonymous SNV E534G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 231952 chr3 49694958 49694958 A G rs748267504 BSN Nonsynonymous SNV T2657A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.001 231953 chr15 59064074 59064074 T G rs757733869 MINDY2 Nonsynonymous SNV S160R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 231954 chr16 68835746 68835746 A G rs876661106 CDH1 Nonsynonymous SNV K113E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.93 231955 chr16 69177278 69177278 A G UTP4 Nonsynonymous SNV I159V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 231956 chr16 69727218 69727218 C T rs779138756 NFAT5 Nonsynonymous SNV P939S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.173 231957 chr3 50006072 50006072 A C rs150438582 RBM6 Nonsynonymous SNV E405A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24.9 231958 chr17 7840531 7840531 A G rs149069306 CNTROB Nonsynonymous SNV N293S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.442 231959 chr1 229599359 229599359 C A NUP133 Nonsynonymous SNV L872F 0.002 0 0 0 2 0 0 0 0 0 0 0 27 231960 chr1 22973979 22973979 G A rs146206456 C1QC Synonymous SNV P58P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.889 231961 chr16 72048378 72048378 A G rs751532422 DHODH Nonsynonymous SNV R81G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 231962 chr6 159655405 159655405 T C rs201264869 FNDC1 Synonymous SNV P1287P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.052 231963 chr3 52817048 52817048 C T rs199643330 ITIH1 Stop gain R48X 0 0.003 0 0 0 1 0 0 0 0 0 0 33 231964 chr3 52842592 52842592 G A rs748258137 ITIH3 Synonymous SNV K856K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.653 231965 chr15 69733207 69733207 C G rs776197989 KIF23 Nonsynonymous SNV A613G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 231966 chr6 166862307 166862307 C T rs201444480 RPS6KA2 Nonsynonymous SNV D315N 0 0.005 0 0 0 2 0 0 0 0 0 0 27.1 231967 chr17 8167886 8167886 C T rs369217509 PFAS Synonymous SNV P672P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 231968 chr3 58520135 58520135 C T rs201784206 ACOX2 Nonsynonymous SNV R92Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.554 231969 chr6 168443308 168443308 G C rs746748822 KIF25 Synonymous SNV L299L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.278 231970 chr15 77763364 77763364 A G HMG20A Nonsynonymous SNV K188R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.95 231971 chr3 65425584 65425584 - CTGCTC rs773650078 MAGI1 Q413_Q414insEQ 0 0.003 0 0 0 1 0 0 0 0 0 0 231972 chr3 71803405 71803405 C G GPR27 Nonsynonymous SNV L69V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 231973 chr1 247978793 247978793 A C rs367893985 OR14A16 Nonsynonymous SNV I80S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 231974 chr15 85326421 85326421 C T rs151234929 ZNF592 Nonsynonymous SNV P172L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 231975 chr15 85400192 85400192 C T rs138935453 ALPK3 Synonymous SNV L943L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.063 231976 chr18 24128232 24128324 TCCTCGTCCTCCTCCAGCCCCCCACCTCCGTCCTCCTCCTCCTCCTCGTCCCCCGTTATCTGCACCTCCTGGATCTCGTCCTCCTCCTCCTCT - KCTD1 D64_E94del 0.001 0 0 0 1 0 0 0 0 0 0 0 231977 chr16 88495349 88495349 G A rs117555121 ZNF469 Nonsynonymous SNV A491T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 231978 chr3 105470408 105470408 A C CBLB Nonsynonymous SNV I158M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 231979 chr18 28935152 28935152 G A rs750974492 DSG1 Nonsynonymous SNV G998D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 231980 chr4 13545931 13545931 G A rs200291862 NKX3-2 Synonymous SNV P36P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.18 231981 chr3 111794172 111794172 C T rs753434148 TMPRSS7 Synonymous SNV C470C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 231982 chr15 89867082 89867082 G T rs755502359 POLG Nonsynonymous SNV N707K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.125 231983 chr16 1144827 1144827 C T rs149525134 C1QTNF8 Synonymous SNV P32P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.17 231984 chr1 26158590 26158590 G C rs751310706 AUNIP Nonsynonymous SNV H369D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.522 231985 chr1 26161677 26161677 C T rs764073268 AUNIP Nonsynonymous SNV G294D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 231986 chr18 3456458 3456458 C T rs138292737 TGIF1 Synonymous SNV N44N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.523 231987 chr16 89347679 89347679 G A ANKRD11 Synonymous SNV S1757S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.377 231988 chr16 14755897 14755897 G T BFAR Nonsynonymous SNV G186V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 231989 chr17 10209864 10209864 G A rs773006118 MYH13 Nonsynonymous SNV T1793M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 231990 chr1 28059155 28059155 A G rs369804232 FAM76A Nonsynonymous SNV Q63R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 231991 chr17 10541495 10541495 C T rs139978727 MYH3 Synonymous SNV A1198A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.908 231992 chr18 48723254 48723254 G A MEX3C Nonsynonymous SNV P146L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 231993 chr3 123003557 123003557 C T rs141058563 ADCY5 Synonymous SNV L878L 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 14.35 231994 chr16 2050254 2050254 G A rs199702127 ZNF598 Synonymous SNV A432A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.682 231995 chr16 1575323 1575323 C T rs368922367 IFT140 Nonsynonymous SNV E925K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 33 231996 chr18 59972657 59972657 A G rs766217020 RELCH Nonsynonymous SNV N1157S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 231997 chr1 35334450 35334450 G A rs11587343 DLGAP3 Synonymous SNV Y747Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.699 231998 chr4 70460370 70460370 C A rs371155907 UGT2A1, UGT2A2 Nonsynonymous SNV G342W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 231999 chr16 19547534 19547534 T C CCP110 Synonymous SNV H181H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 232000 chr1 38172657 38172657 G A rs187658080 CDCA8 Nonsynonymous SNV R240Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 232001 chr18 65180318 65180318 G A rs779379001 DSEL Stop gain Q510X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 232002 chr3 127872616 127872616 C G rs200775259 EEFSEC Nonsynonymous SNV T89R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 232003 chr4 73935428 73935428 G A rs953544512 COX18 Synonymous SNV L17L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.939 232004 chr18 6974948 6974948 C A rs149080936 LAMA1 Nonsynonymous SNV D2193Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 232005 chr17 19583274 19583274 G C SLC47A2 Nonsynonymous SNV L491V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 232006 chr18 72775956 72775956 G C rs192780750 ZNF407 Synonymous SNV A2093A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.144 232007 chr11 619849 619849 C T rs746973014 CDHR5 Synonymous SNV V337V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.933 232008 chr16 30100038 30100038 G A rs140666098 TBX6 Synonymous SNV S248S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 11.28 232009 chr18 76753890 76753890 C T rs752932292 SALL3 Synonymous SNV S633S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.672 232010 chr16 24570859 24570859 T C rs755557428 RBBP6 Synonymous SNV P236P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.151 232011 chr16 25232886 25232886 C T rs146177689 AQP8 Synonymous SNV L123L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 232012 chr5 140798736 140798736 C T rs746258255 PCDHGB7 Nonsynonymous SNV T437I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 232013 chr11 62543291 62543291 C A rs111246317 TAF6L Synonymous SNV I12I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 232014 chr18 8784387 8784387 C T rs140267953 MTCL1 Nonsynonymous SNV S426L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.5 232015 chr16 2983208 2983208 C T rs373284442 FLYWCH1 Nonsynonymous SNV R292W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 232016 chr19 10224807 10224807 C T rs746112495 P2RY11, PPAN-P2RY11 Nonsynonymous SNV P173L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 232017 chr3 139181087 139181087 G A rs376845118 RBP2 Nonsynonymous SNV T40M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 232018 chr16 30012275 30012275 G T rs149544726 INO80E Nonsynonymous SNV A104S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.496 232019 chr16 3072999 3072999 C T rs775913131 HCFC1R1 Synonymous SNV R75R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.567 232020 chr16 30793639 30793639 G C ZNF629 Nonsynonymous SNV S670R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 232021 chr1 47650745 47650745 G A rs138001097 PDZK1IP1 Synonymous SNV T67T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.102 232022 chr3 150396254 150396254 T C ERICH6 Nonsynonymous SNV Q254R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 232023 chr16 4861236 4861236 G A rs776189438 GLYR1 Nonsynonymous SNV R421C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 232024 chr3 155200793 155200793 G A rs774779319 PLCH1 Nonsynonymous SNV P1008S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.042 232025 chr16 3900313 3900313 T C rs765217547 CREBBP Synonymous SNV A261A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.338 232026 chr16 50664197 50664197 C T rs150377756 NKD1 Nonsynonymous SNV A188V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 232027 chr16 50733664 50733664 C T rs138889062 NOD2 Synonymous SNV D86D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.347 232028 chr16 50745596 50745596 G A rs148683734 NOD2 Nonsynonymous SNV V565M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.003 232029 chr3 157160435 157160435 C T rs144589446 PTX3 Synonymous SNV C271C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 232030 chr3 170797335 170797335 G A TNIK Synonymous SNV D1048D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 232031 chr3 170811733 170811733 G A rs371972774 TNIK Synonymous SNV N780N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.15 232032 chr16 53706885 53706885 T C RPGRIP1L Nonsynonymous SNV N309S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 232033 chr3 178745289 178745289 G A rs150264119 ZMAT3 Nonsynonymous SNV R194W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 232034 chr17 36499526 36499526 C A GPR179 Nonsynonymous SNV M49I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 232035 chr16 56913524 56913524 C T rs139743444 SLC12A3 Nonsynonymous SNV A469V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 232036 chr16 602499 602499 G A CAPN15 Synonymous SNV G902G 0.003 0 0 0 4 0 0 0 0 0 0 0 0.024 232037 chr3 183665155 183665155 A T rs201309685 ABCC5 Nonsynonymous SNV I652N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.9 232038 chr16 57687239 57687239 C T rs147495708 ADGRG1 Synonymous SNV P209P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.05 232039 chr3 183772521 183772521 C - HTR3C A27Vfs*59 0 0.003 0 0 0 1 0 0 0 0 0 0 232040 chr7 100203313 100203313 C G rs140195402 PCOLCE Synonymous SNV T201T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 232041 chr17 38510701 38510701 C T rs371856851 RARA Synonymous SNV L222L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 232042 chr19 16636384 16636384 G A rs771976544 CHERP Synonymous SNV P470P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.289 232043 chr19 16640580 16640580 - TGC rs757237200 CHERP Q341_L342insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 232044 chr16 67034858 67034858 T A rs573165595 CES4A Nonsynonymous SNV F69L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 232045 chr16 67034859 67034859 C A rs542028870 CES4A Nonsynonymous SNV L70M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 232046 chr16 68349940 68349940 G T rs199531794 PRMT7 Stop gain E20X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 232047 chr16 68349943 68349943 G A rs200800825 PRMT7 Nonsynonymous SNV D21N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 232048 chr11 72408404 72408404 T A rs764769172 ARAP1 Nonsynonymous SNV I667F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 232049 chr3 192125856 192125856 G A rs776055050 FGF12 Nonsynonymous SNV R53C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 232050 chr11 73101629 73101629 A G rs183341439 RELT Nonsynonymous SNV T27A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.635 232051 chr16 71894293 71894293 G A rs144936410 ZNF821 Synonymous SNV T247T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.508 232052 chr3 194081671 194081671 G A rs769178697 LRRC15 Synonymous SNV A34A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.672 232053 chr4 170327836 170327836 G A rs140408058 NEK1 Synonymous SNV P998P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.651 232054 chr16 79628390 79628390 C T rs149118803 MAF Synonymous SNV Q393Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 232055 chr3 196735743 196735743 T C rs371944729 MELTF Nonsynonymous SNV Q540R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.234 232056 chr19 2041150 2041150 G A rs555906753 MKNK2 Synonymous SNV D333D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.026 232057 chr17 4074085 4074085 G A rs199727847 ANKFY1 Synonymous SNV L1112L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 232058 chr11 797927 797927 G C PANO1 Nonsynonymous SNV R101P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.694 232059 chr16 81979814 81979814 C T rs773778524 PLCG2 Synonymous SNV S1172S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.47 232060 chr11 823556 823556 C T rs144220751 PNPLA2 Synonymous SNV Y242Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.31 232061 chr7 101259534 101259534 C G rs548990601 MYL10 Nonsynonymous SNV D167H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 232062 chr16 84691113 84691113 A G KLHL36 Nonsynonymous SNV N234D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.34 232063 chr16 84906600 84906600 G A rs779433800 CRISPLD2 Synonymous SNV S328S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.115 232064 chr7 11416264 11416264 C A THSD7A Nonsynonymous SNV V1608F 0 0.003 0 0 0 1 0 0 0 0 0 0 27 232065 chr5 10403641 10403641 A G rs143228471 MARCHF6 Synonymous SNV L335L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.584 232066 chr11 9321180 9321180 C A TMEM41B Nonsynonymous SNV A64S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 232067 chr4 5633588 5633588 C T EVC2 Nonsynonymous SNV A468T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 232068 chr7 123302291 123302291 T G LMOD2 Nonsynonymous SNV N217K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 232069 chr16 88958851 88958851 G A rs143862946 CBFA2T3 Nonsynonymous SNV A55V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 232070 chr16 89703694 89703694 A T rs769332649 DPEP1 Nonsynonymous SNV Q225L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.837 232071 chr17 47656115 47656115 C T rs571014368 NXPH3 Nonsynonymous SNV P71L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 232072 chr4 8239331 8239331 C T rs374279230 SH3TC1 Synonymous SNV D1153D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.52 232073 chr19 36365667 36365667 C T rs149513227 APLP1 Nonsynonymous SNV R414W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 232074 chr20 30231233 30231233 T A rs144038959 COX4I2 Nonsynonymous SNV F92I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 232075 chr12 106903279 106903279 G T rs781580610 POLR3B Nonsynonymous SNV Q1060H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 232076 chr17 1174014 1174014 G A rs780663863 BHLHA9 Nonsynonymous SNV A53T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 232077 chr19 3747920 3747920 G A rs140609409 TJP3 Synonymous SNV T817T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.935 232078 chr20 31606541 31606541 C T rs373815604 BPIFB2 Synonymous SNV T256T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 232079 chr12 110206097 110206097 C T rs200236100 FAM222A Synonymous SNV P121P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.529 232080 chr12 11149608 11149608 G A TAS2R20 Synonymous SNV T289T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.164 232081 chr17 57105778 57105778 T C TRIM37 Nonsynonymous SNV N598S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 232082 chr20 34268725 34268725 G A rs138646150 NFS1 Nonsynonymous SNV L191F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 232083 chr4 38775112 38775112 A C rs938007979 TLR10 Nonsynonymous SNV F700L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 232084 chr20 35929696 35929696 G A rs144903215 MANBAL Synonymous SNV P10P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 232085 chr17 1783946 1783946 C T RPA1 Nonsynonymous SNV A388V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.07 232086 chr17 18156942 18156942 C T rs547560301 FLII Synonymous SNV Q203Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.995 232087 chr12 113612943 113612943 C T rs367918878 DDX54 Nonsynonymous SNV A258T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 232088 chr19 4101275 4101275 G A MAP2K2 Nonsynonymous SNV L178F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 232089 chr5 77334914 77334914 T C rs753810749 AP3B1 Nonsynonymous SNV E872G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.1 232090 chr12 120960102 120960102 A G rs142784328 COQ5 Synonymous SNV G89G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.301 232091 chr12 121093911 121093911 C G rs144243264 CABP1 Nonsynonymous SNV Q21E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 232092 chr4 44720426 44720426 C T GNPDA2 Synonymous SNV G42G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.54 232093 chr5 79028949 79028949 T C rs766828925 CMYA5 Nonsynonymous SNV I1454T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 232094 chr19 4216910 4216924 GAGGCCACGGGAGCT - rs769811045 ANKRD24 E590_A594del 0.001 0 0 0 1 0 0 0 0 0 0 0 232095 chr12 121877790 121877790 G C rs782054563 KDM2B Nonsynonymous SNV I1164M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 232096 chr12 122247909 122247909 C T rs751321721 SETD1B Nonsynonymous SNV P353L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.72 232097 chr4 54967999 54967999 C G rs775274640 GSX2 Synonymous SNV V275V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.81 232098 chr20 44692147 44692147 C T rs746125953 NCOA5 Synonymous SNV V229V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.082 232099 chr17 6945404 6945404 C G SLC16A11 Nonsynonymous SNV G342A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 232100 chr20 47612359 47612359 C T rs772292207 ARFGEF2 Nonsynonymous SNV A1054V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 232101 chr20 47626902 47626902 A G rs762641248 ARFGEF2 Nonsynonymous SNV I1240V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 232102 chr19 4453475 4453475 C T rs146778894 UBXN6 Nonsynonymous SNV E45K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 232103 chr12 12939904 12939904 G C rs1044897676 APOLD1 Nonsynonymous SNV G53A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 232104 chr11 33738954 33738954 C A rs975525889 CD59 Nonsynonymous SNV C44F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 232105 chr19 44934324 44934324 G A rs61744740 ZNF229 Nonsynonymous SNV T205I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.748 232106 chr12 133182784 133182786 CAG - rs754899546 LRCOL1 L18del 0.002 0.003 0.014 0 2 1 0 4 0 0 0 0 232107 chr12 133319741 133319741 T C ANKLE2 Nonsynonymous SNV D451G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 232108 chr20 5943985 5943985 G A rs35102646 MCM8 Synonymous SNV T285T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.901 232109 chr20 5958591 5958591 G C MCM8 Nonsynonymous SNV V442L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 232110 chr20 6031477 6031477 C T rs34360701 LRRN4 Nonsynonymous SNV A270T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.07 232111 chr19 45790805 45790805 C T MARK4 Synonymous SNV C459C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.807 232112 chr20 6033131 6033131 G T rs116064748 LRRN4 Synonymous SNV T105T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.608 232113 chr11 46723109 46723109 G A rs752381910 ZNF408 Synonymous SNV Q63Q 0 0 0 2 0 0 0.005 0 0 0 0 0 8.796 232114 chr17 73728048 73728048 C T rs930708845 ITGB4 Synonymous SNV C457C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 232115 chr19 45992238 45992238 G A RTN2 Synonymous SNV Y76Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 232116 chr12 16392699 16392699 G C SLC15A5 Nonsynonymous SNV L360V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 232117 chr17 38911185 38911185 G A rs150885868 KRT25 Synonymous SNV G113G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.322 232118 chr20 60908493 60908493 G A rs139992490 LAMA5 Synonymous SNV L1022L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.866 232119 chr12 2022191 2022191 G A rs776189698 CACNA2D4 Stop gain Q142X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 232120 chr4 88372833 88372833 G A rs778061331 NUDT9 Synonymous SNV E213E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.546 232121 chr19 46998336 46998336 G A rs201169835 PNMA8B Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.113 232122 chr5 132149446 132149446 G A rs1013188144 SOWAHA Nonsynonymous SNV A45T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 232123 chr20 61981128 61981128 C T rs121912283 CHRNA4 Synonymous SNV T545T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.281 232124 chr20 62328680 62328680 G A TNFRSF6B 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 232125 chr7 45932640 45932640 G A rs141120529 IGFBP1 Nonsynonymous SNV E244K 0 0.003 0 0 0 1 0 0 0 0 0 0 24 232126 chr7 48311481 48311481 T C rs776893226 ABCA13 Nonsynonymous SNV F740L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 232127 chr17 39619283 39619283 G A rs16966929 KRT32 Nonsynonymous SNV T339M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 232128 chr4 108581192 108581192 C A PAPSS1 Stop gain E236X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 232129 chr5 140475115 140475115 G A PCDHB2 Synonymous SNV L247L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.964 232130 chr17 78319115 78319115 A G rs750618954 RNF213 Nonsynonymous SNV N2327S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 232131 chr21 32598135 32598135 C T TIAM1 Synonymous SNV Q572Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 232132 chr17 422455 422455 G A rs768263237 VPS53 Synonymous SNV S804S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.563 232133 chr12 49942718 49942718 C T rs774538655 KCNH3 Synonymous SNV Y350Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 232134 chr17 79504090 79504090 C T rs752007056 FSCN2 Nonsynonymous SNV A512V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 Uncertain significance 29.8 232135 chr17 79526312 79526312 G A rs199791293 NPLOC4 Synonymous SNV C605C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.99 232136 chr21 40177923 40177923 C T ETS2 Nonsynonymous SNV A100V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.04 232137 chr21 40190374 40190374 T C ETS2 Synonymous SNV Y205Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 232138 chr4 123333754 123333754 A C rs762101029 ADAD1 Nonsynonymous SNV I336L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.613 232139 chr19 519207 519207 G A rs754092154 TPGS1 Synonymous SNV Q219Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.024 232140 chr17 8048250 8048250 G A rs766555914 PER1 Synonymous SNV P760P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 232141 chr11 56019678 56019678 G A rs201128456 OR5T3 Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 0 1.039 232142 chr17 43045291 43045291 G A rs767909747 C1QL1 Synonymous SNV A42A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 232143 chr17 8166297 8166297 G A rs34939404 PFAS Nonsynonymous SNV A466T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 31 232144 chr4 143081690 143081690 T C rs781600296 INPP4B Nonsynonymous SNV K462E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 232145 chr19 52942222 52942222 C - rs558006603 ZNF534 R476Vfs*128 0.001 0 0 0 1 0 0 0 0 0 0 0 232146 chr19 53611882 53611882 T C rs770695015 ZNF415 Synonymous SNV Q242Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.016 232147 chr17 47299997 47299997 T A rs889485846 ABI3 Nonsynonymous SNV Y335N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 232148 chr5 159992493 159992493 G T rs748889915 ATP10B Nonsynonymous SNV S1451R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 232149 chr17 48703472 48703472 G A CACNA1G Nonsynonymous SNV R2038Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 232150 chr12 56995393 56995393 C T rs372432526 BAZ2A Synonymous SNV P1336P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 232151 chr18 29055684 29055684 G A rs148716637 DSG3 Nonsynonymous SNV A821T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 232152 chr17 61767033 61767033 G A rs754533496 MAP3K3 Nonsynonymous SNV R330H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 232153 chr12 57114474 57114474 A G rs374589645 NACA Synonymous SNV T280T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.907 232154 chr5 171532679 171532679 C G rs202191993 STK10 Nonsynonymous SNV S284T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.94 232155 chr4 184932049 184932049 C T rs112717934 STOX2 Synonymous SNV A686A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.19 232156 chr19 55873966 55873966 G A FAM71E2 Synonymous SNV C95C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.423 232157 chr18 3452281 3452281 G A TGIF1 Nonsynonymous SNV A102T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.069 232158 chr11 57449909 57449909 C T rs776812550 ZDHHC5 Synonymous SNV S40S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.98 232159 chr18 43668207 43668207 T C rs77958705 ATP5F1A Nonsynonymous SNV I173V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.52 232160 chr4 187525704 187525704 C T rs199593181 FAT1 Nonsynonymous SNV V3459M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 232161 chr17 57682970 57682970 G A DHX40 Nonsynonymous SNV R635Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 232162 chr7 27239522 27239522 G C rs747262113 HOXA13 Nonsynonymous SNV P59A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.29 232163 chr19 57326940 57326940 A G PEG3 Nonsynonymous SNV F802S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.031 232164 chr19 57839151 57839151 A G rs115018934 ZNF543 Synonymous SNV Q107Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.181 232165 chr19 57931830 57931830 C G rs199771810 ZNF17 Nonsynonymous SNV H324D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 232166 chr6 3019779 3019779 G T rs144055532 NQO2 Nonsynonymous SNV A158S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.55 232167 chr18 57134097 57134097 C G CCBE1 Nonsynonymous SNV G143R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 232168 chr19 58131588 58131588 T G rs199570382 ZNF134 Nonsynonymous SNV V34G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 232169 chr19 5824184 5824184 G A NRTN Nonsynonymous SNV R3H 0.001 0 0 0 1 0 0 0 0 0 0 0 29 232170 chr19 58805981 58805981 C T rs762713712 ZNF8 Synonymous SNV N269N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 232171 chr22 29629610 29629610 T - EMID1 P307Lfs*14 0.002 0 0 0 2 0 0 0 0 0 0 0 232172 chr12 8800767 8800767 G A rs148770543 MFAP5 Nonsynonymous SNV P84S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 27.9 232173 chr18 64211432 64211432 G A rs371022067 CDH19 Synonymous SNV Y330Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.791 232174 chr12 90049659 90049659 C T rs756475314 ATP2B1 Nonsynonymous SNV G2D 0.001 0 0 0 1 0 0 0 0 0 0 0 27 232175 chr8 130789824 130789824 T C rs115551816 GSDMC Nonsynonymous SNV M4V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 232176 chr18 67866727 67866728 CA - RTTN V167Efs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 232177 chr19 6534904 6534904 G T rs770740467 TNFSF9 Nonsynonymous SNV G198C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 232178 chr19 7677714 7677714 C T rs370407145 CAMSAP3 Nonsynonymous SNV R779C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 232179 chr18 9221869 9221869 G A rs757301244 ANKRD12 Nonsynonymous SNV R249H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 232180 chr19 8146309 8146309 C A rs150192643 FBN3 Synonymous SNV T2423T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.58 232181 chr5 43649350 43649350 G A rs367558397 NNT Nonsynonymous SNV V385I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 232182 chr17 7667275 7667275 C T rs267605085 DNAH2 Synonymous SNV F1035F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 232183 chr17 73487805 73487805 C T TMEM94 Synonymous SNV L484L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.57 232184 chr17 78013851 78013851 A G rs201709592 CCDC40 Nonsynonymous SNV T112A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 232185 chr17 78157740 78157740 G A rs138552007 CARD14 Synonymous SNV E126E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.02 232186 chr11 64882209 64882209 A C rs748516890 TM7SF2 Nonsynonymous SNV M210L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 232187 chr17 78397345 78397345 C T rs370252560 ENDOV Synonymous SNV G98G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 232188 chr13 113729439 113729439 C T rs142444839 MCF2L Nonsynonymous SNV A377V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 232189 chr13 113777177 113777177 G A rs1026200798 F10 Nonsynonymous SNV R3H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.7 232190 chr19 9019623 9019623 C T rs146299695 MUC16 Nonsynonymous SNV R12508Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 232191 chr5 70848973 70848973 A G rs189468594 BDP1 Synonymous SNV Q2342Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.517 232192 chr19 9049663 9049663 G A MUC16 Synonymous SNV V10656V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.049 232193 chr22 45719052 45719052 G A FAM118A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.244 232194 chr19 12222914 12222914 A G rs765054921 ZNF788P Synonymous SNV R184R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.011 232195 chr5 73048867 73048867 G T rs191563093 ARHGEF28 Synonymous SNV T105T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 4.005 232196 chr22 46787108 46787108 C T rs546943922 CELSR1 Synonymous SNV A2075A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.4 232197 chr22 50487740 50487740 C T rs200850321 TTLL8 Nonsynonymous SNV A104T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.937 232198 chr17 9604888 9604888 G A rs146934288 USP43 Nonsynonymous SNV A628T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.077 232199 chr13 29600040 29600040 C A rs73441370 MTUS2 Nonsynonymous SNV S402Y 0.003 0 0.014 1 3 0 0.003 4 0 0 0 0 19.67 232200 chr19 14083650 14083650 C T rs960634966 RFX1 Nonsynonymous SNV G407S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 232201 chr19 14772903 14772903 C T rs767833404 ADGRE3 Nonsynonymous SNV S76N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 232202 chr1 109637138 109637138 G T TMEM167B Nonsynonymous SNV K101N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.084 232203 chr13 42874363 42874363 G A AKAP11 Nonsynonymous SNV S494N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 232204 chr2 102003668 102003668 G A CREG2 Synonymous SNV H84H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 232205 chr19 16593359 16593359 C T rs12459238 CALR3 Nonsynonymous SNV V274I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 2.695 232206 chr1 110032693 110032693 C T rs765633159 ATXN7L2 Synonymous SNV D425D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.678 232207 chr17 80053200 80053200 G A rs568118566 FASN Synonymous SNV D92D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.602 232208 chr17 80369346 80369346 G A OGFOD3 Nonsynonymous SNV A122V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 232209 chr17 80400126 80400126 G A rs761843087 HEXD Nonsynonymous SNV V351M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 232210 chr19 17058017 17058017 A G rs534147242 CPAMD8 Synonymous SNV V843V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.5 232211 chr13 49833660 49833660 G A rs764271518 CDADC1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 232212 chr8 29194924 29194924 G A rs146191698 DUSP4 Synonymous SNV A268A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.36 232213 chr17 80789895 80789895 C T rs760490074 ZNF750 Nonsynonymous SNV A146T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.225 232214 chr1 110768794 110768794 C T rs200184574 KCNC4 Nonsynonymous SNV R605W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 232215 chr13 50586537 50586537 G A TRIM13 Nonsynonymous SNV R154Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 232216 chr8 33247054 33247054 C T rs28727521 FUT10 Synonymous SNV P213P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.527 232217 chr13 52511731 52511731 C A rs769484789 ATP7B Nonsynonymous SNV V1055F 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 28.9 232218 chr5 98192114 98192114 C T rs755815607 CHD1 Synonymous SNV P1701P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.77 232219 chr13 52598528 52598528 C A rs142637770 ALG11 Nonsynonymous SNV A221D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 232220 chr8 37690573 37690573 G A ADGRA2 Synonymous SNV L381L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.12 232221 chr18 44656670 44656670 C T rs988452424 HDHD2 Nonsynonymous SNV V24I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 232222 chr19 17652979 17652979 C T rs199734357 NIBAN3 Nonsynonymous SNV A159V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 232223 chr18 48446857 48446857 G A ME2 Nonsynonymous SNV D256N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 232224 chr8 42025216 42025216 A G AP3M2 Synonymous SNV P348P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.408 232225 chr1 114354776 114354776 G A RSBN1 Nonsynonymous SNV R87W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 232226 chr5 112824049 112824051 GCC - rs780898825 MCC G21del 0 0.003 0 0 0 1 0 0 0 0 0 0 232227 chr5 112824051 112824051 - GCC MCC G21_S22insG 0 0.003 0 0 0 1 0 0 0 0 0 0 232228 chr19 18120729 18120729 G A rs8110271 ARRDC2 Nonsynonymous SNV A239T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.642 232229 chr19 18120760 18120760 C T rs8111135 ARRDC2 Nonsynonymous SNV A249V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.9 232230 chr19 18121514 18121514 C T rs77039320 ARRDC2 Synonymous SNV Y377Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.17 232231 chr5 115813578 115813578 T C rs56912727 SEMA6A Nonsynonymous SNV E538G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24 232232 chr1 11772462 11772462 G C DRAXIN Nonsynonymous SNV D275H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 232233 chr14 100792127 100792127 G A rs574817448 SLC25A47 Nonsynonymous SNV V11I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.098 232234 chr14 102551276 102551278 TTT - rs3832931 HSP90AA1 K241del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 232235 chr18 5891326 5891326 G T TMEM200C Nonsynonymous SNV P246Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 232236 chr1 120165923 120165923 G A ZNF697 Nonsynonymous SNV A348V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.84 232237 chr2 131803695 131803695 C G ARHGEF4 Nonsynonymous SNV A1855G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 232238 chr14 103593737 103593737 G A rs780474670 TNFAIP2 Nonsynonymous SNV E211K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 232239 chr14 103871496 103871496 C T rs774825585 MARK3 Synonymous SNV S45S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 232240 chr19 19038783 19038783 G A DDX49 Nonsynonymous SNV A401T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 232241 chr1 14068614 14068614 C T rs367581374 PRDM2 Synonymous SNV L116L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 232242 chr6 112382222 112382222 C T rs149609367 CCN6 Nonsynonymous SNV P26L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 2.098 232243 chr6 112382236 112382236 C A rs145590972 CCN6 Nonsynonymous SNV P31T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.427 232244 chr5 133944192 133944192 G C SAR1B Stop gain S117X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 232245 chr2 141816487 141816487 C G rs371869246 LRP1B Nonsynonymous SNV G458A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.134 232246 chr2 152235859 152235859 G T rs376529447 LOC101929319 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.103 232247 chr5 135692539 135692539 G A rs368538016 TRPC7 Synonymous SNV I179I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.61 232248 chr2 152317792 152317792 C T RIF1 Synonymous SNV L1072L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.88 232249 chr5 137519212 137519212 G A rs753766129 KIF20A Nonsynonymous SNV V361M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.03 232250 chr19 281472 281472 C T PLPP2 Synonymous SNV L261L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 232251 chr1 151384135 151384135 C A POGZ Nonsynonymous SNV G536V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 232252 chr12 106723130 106723130 C T rs951145596 TCP11L2 Synonymous SNV A265A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.572 232253 chr6 139694484 139694489 TGCCGC - rs531316452 CITED2 S198_G199del 0.001 0 0 0 1 0 0 0 0 0 0 0 232254 chr1 153303392 153303392 C T rs146118434 PGLYRP4 Nonsynonymous SNV A325T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 232255 chr1 153946394 153946394 G A CREB3L4 Synonymous SNV L347L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.637 232256 chr2 166911171 166911171 G A rs116478064 SCN1A Synonymous SNV L193L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.58 232257 chr19 10477217 10477217 C T rs778545468 TYK2 Nonsynonymous SNV E169K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 232258 chr19 10678067 10678067 G A rs745421966 CDKN2D Synonymous SNV I56I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 232259 chr1 155904155 155904155 C T rs752213474 KHDC4 Nonsynonymous SNV G4R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 232260 chr19 36297438 36297438 C T rs148473605 PRODH2 Nonsynonymous SNV G375R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 232261 chr1 156374372 156374372 G A rs369792612 C1orf61 Nonsynonymous SNV S76L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.017 232262 chr18 61654254 61654254 C T rs373624835 SERPINB8 Synonymous SNV I109I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 232263 chr2 175618388 175618388 G A rs74533173 CHRNA1 Synonymous SNV S207S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.02 232264 chr2 176805732 176805732 T C rs148493448 LNPK Synonymous SNV Q261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.935 232265 chr2 176964853 176964853 G A rs140276133 HOXD12 Synonymous SNV G108G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.696 232266 chr19 37368057 37368057 C G rs138039193 ZNF345 Nonsynonymous SNV Q109E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 232267 chr2 178988319 178988319 G A rs146044729 RBM45 Synonymous SNV Q308Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.934 232268 chr2 179431540 179431540 C T rs56044609 TTN Nonsynonymous SNV R17375H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 23 232269 chr2 179479127 179479127 A G rs139962165 TTN-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 232270 chr1 158390354 158390354 C T rs753601074 OR10K2 Nonsynonymous SNV M101I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 232271 chr5 149276063 149276063 T G rs17711594 PDE6A Nonsynonymous SNV Q492H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.62 232272 chr14 37149866 37149866 C A rs17104991 SLC25A21, SLC25A21 Nonsynonymous SNV W299C 0.002 0 0.01 0 2 0 0 3 0 0 0 0 35 232273 chr2 179809378 179809378 C G rs61738855 CCDC141 Nonsynonymous SNV V261L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 27.2 232274 chr2 180014052 180014052 C T rs145174802 SESTD1 Nonsynonymous SNV D185N 0.002 0 0 0 2 0 0 0 0 0 0 0 23 232275 chr5 150886792 150886792 C G rs146563944 FAT2 Nonsynonymous SNV R4147T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.79 232276 chr19 16925863 16925863 T C NWD1 Nonsynonymous SNV V1267A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 232277 chr19 17169626 17169626 C T rs767278527 HAUS8 Nonsynonymous SNV V160I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.006 232278 chr14 55510931 55510931 A G rs776121374 SOCS4 Nonsynonymous SNV H391R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 232279 chr7 1026828 1026828 C T CYP2W1 Nonsynonymous SNV S302L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 232280 chr19 41950078 41950078 C G rs782540249 ERICH4 Nonsynonymous SNV H114Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 232281 chr19 17397491 17397491 G T rs878979432 ANKLE1 Synonymous SNV V587V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.458 232282 chr7 4169503 4169503 G A rs2079398 LOC105375131 0.001 0 0 0 1 0 0 0 0 0 0 0 4.203 232283 chr19 44085417 44085417 T C rs200138666 PINLYP Nonsynonymous SNV Y81H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.486 232284 chr2 201467019 201467019 G A rs540242322 AOX1 Nonsynonymous SNV R150H 0.002 0 0 0 2 0 0 0 0 0 0 0 26 232285 chr5 175998300 175998300 C T rs376213561 CDHR2 Synonymous SNV N134N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 8.152 232286 chr19 1924157 1924157 G A rs377518680 SCAMP4 Synonymous SNV T144T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 232287 chr19 19605132 19605132 C T rs146134903 GATAD2A Synonymous SNV T188T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.02 232288 chr2 204064101 204064101 G A NBEAL1 Stop gain W2361X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 232289 chr19 14231300 14231300 G T ASF1B Nonsynonymous SNV L194I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.17 232290 chr19 15376268 15376268 G A rs536634033 BRD4 Nonsynonymous SNV T249M 0.003 0 0 0 3 0 0 0 0 0 0 0 17.96 232291 chr2 211018948 211018948 T G rs745766970 KANSL1L Nonsynonymous SNV Q120P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 232292 chr19 3178905 3178905 G C S1PR4 Nonsynonymous SNV G39R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.216 232293 chr14 74974770 74974770 C T rs368214877 LTBP2 Synonymous SNV P1227P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 232294 chr5 179740875 179740875 T C rs148353512 GFPT2 Nonsynonymous SNV I455V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 232295 chr19 47177933 47177933 G C PRKD2 Nonsynonymous SNV I671M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 232296 chr12 46316358 46316358 T C rs1015143382 SCAF11 Nonsynonymous SNV Q1378R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 232297 chr19 47883026 47883026 C G rs139995746 DHX34 Synonymous SNV A922A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 232298 chr9 139750041 139750041 T C rs199522336 MAMDC4 Nonsynonymous SNV C481R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.2 232299 chr19 36727441 36727441 G A rs139468503 ZNF146 Synonymous SNV E33E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.795 232300 chr19 37064319 37064319 C T rs529055418 ZNF529-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.358 232301 chr19 37117081 37117081 A C rs189191111 ZNF382 Nonsynonymous SNV Q93H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 232302 chr9 140139106 140139106 G A rs62584882 FAM166A Synonymous SNV F245F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 9.307 232303 chr12 49087547 49087547 T C CCNT1 Nonsynonymous SNV I484V 0 0 0 3 0 0 0.008 0 0 0 0 0 17.03 232304 chr12 49421655 49421655 C T rs562830182 KMT2D Synonymous SNV K4858K 0 0 0 3 0 0 0.008 0 0 0 0 0 14.75 232305 chr6 13365029 13365029 G A GFOD1 Synonymous SNV P270P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.043 232306 chr19 37488326 37488326 T - rs548615062 ZNF568 V515Ffs*108 0 0 0.003 0 0 0 0 1 0 0 0 0 232307 chr19 38160776 38160776 G A rs143682843 ZNF781 Synonymous SNV L92L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.733 232308 chr1 19630788 19630788 C T rs200545006 AKR7A2 Synonymous SNV P302P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 232309 chr9 19379506 19379506 G A rs766005931 RPS6 Synonymous SNV D39D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.45 232310 chr19 3907734 3907734 G A rs371914915 ATCAY Nonsynonymous SNV D121N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 232311 chr2 227920788 227920788 G A rs772517977 COL4A4 Synonymous SNV P863P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.538 232312 chr19 39597659 39597659 G A ACP7 Nonsynonymous SNV G396R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 232313 chr6 25820126 25820126 C A rs149708935 SLC17A1 Nonsynonymous SNV W75C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 232314 chr19 40151081 40151081 C T rs559317635 LGALS16 Nonsynonymous SNV P117L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 232315 chr15 102359023 102359023 G C OR4F15 Nonsynonymous SNV V212L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 232316 chr19 40366458 40366458 A G rs148970533 FCGBP Synonymous SNV D4592D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 232317 chr19 20735297 20735297 C T ZNF737 Nonsynonymous SNV M70I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 232318 chr6 26197288 26197288 C G H3C4 Nonsynonymous SNV R64P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 232319 chr12 53007375 53007375 A C rs568733320 KRT73-AS1 0 0.005 0 3 0 2 0.008 0 0 0 0 0 3.23 232320 chr9 37541185 37541185 T C FBXO10 Nonsynonymous SNV Y194C 0 0.003 0 0 0 1 0 0 0 0 0 0 24 232321 chr1 204124159 204124159 G A rs777391884 REN Synonymous SNV F402F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 232322 chr15 38794557 38794557 A T rs756619659 RASGRP1 Synonymous SNV I463I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.492 232323 chr6 34003561 34003561 C T rs745427399 GRM4 Nonsynonymous SNV G660S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 232324 chr7 80299306 80299327 GGTATTGCAGTTCTTTTCTTCT - rs754365623 CD36 V108Ifs*16 0.002 0 0 1 2 0 0.003 0 0 0 0 0 232325 chr6 34511830 34511830 C T rs146713427 SPDEF Nonsynonymous SNV E135K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 232326 chr19 4446845 4446845 C T rs78035520 UBXN6 Nonsynonymous SNV A177T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.165 232327 chr15 40574025 40574025 G A ANKRD63 Nonsynonymous SNV R255W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 232328 chr1 208061091 208061091 C T rs768640209 CD34 Nonsynonymous SNV E384K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 232329 chr19 45317999 45317999 C A rs532679625 BCAM Nonsynonymous SNV L354M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 232330 chr1 214819739 214819739 T G rs141620633 CENPF Nonsynonymous SNV C2276G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 232331 chr15 43044618 43044618 G A rs781516018 TTBK2 Synonymous SNV H942H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.862 232332 chr12 62783437 62783437 A T USP15 Nonsynonymous SNV D288V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 232333 chr1 22154901 22154901 G A rs146179360 HSPG2 Nonsynonymous SNV R4087W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 34 232334 chr12 6560623 6560623 G A rs547361999 CD27-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.054 232335 chr19 547372 547372 C T rs140327613 GZMM Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.013 232336 chr12 6761856 6761856 C G rs764644678 ING4 Nonsynonymous SNV A134P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 19.74 232337 chr15 51790789 51790789 - G DMXL2 Stop gain S1545* 0.001 0 0 0 1 0 0 0 0 0 0 0 232338 chr2 27598416 27598416 G A rs150158436 SNX17 Nonsynonymous SNV R248H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 232339 chr2 27799835 27799835 T C rs778167714 C2orf16 Synonymous SNV Y132Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 232340 chr12 72083393 72083393 G A rs146789654 TMEM19 Synonymous SNV P51P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 232341 chr12 7288024 7288024 G A CLSTN3 Nonsynonymous SNV R162H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 19.81 232342 chr19 55870810 55870810 G C rs989423626 FAM71E2 Nonsynonymous SNV P476A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.384 232343 chr19 50100078 50100078 G A rs200621235 PRR12 Nonsynonymous SNV R829H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 232344 chr15 60907148 60907148 C A rs754542623 RORA Nonsynonymous SNV K72N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.838 232345 chr6 64395207 64395207 G A rs199651363 PHF3 Synonymous SNV V440V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 4.318 232346 chr19 50386145 50386145 C T rs775563779 TBC1D17 Nonsynonymous SNV S275L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 232347 chr2 3749130 3749130 T C rs376380795 ALLC Synonymous SNV D293D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.105 232348 chr19 41173397 41173397 T C rs149044373 NUMBL Synonymous SNV Q561Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 232349 chr15 65242126 65242126 G A rs764687622 ANKDD1A Synonymous SNV T472T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 232350 chr19 56424145 56424145 G A rs146309568 NLRP13 Synonymous SNV H346H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.28 232351 chr1 228560607 228560607 G A rs771370431 OBSCN Synonymous SNV A7376A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.007 232352 chr6 88346204 88346204 G C ORC3 Nonsynonymous SNV R318T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 232353 chr15 71146304 71146304 C G rs369653791 LARP6 Nonsynonymous SNV G42R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.1 232354 chr1 233313619 233313619 G C PCNX2 Nonsynonymous SNV P1068A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 232355 chr2 54114505 54114505 T C PSME4 Synonymous SNV K1540K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.347 232356 chr15 72837221 72837221 A G ARIH1 Synonymous SNV K168K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.379 232357 chr6 99365361 99365361 A T rs138206466 FBXL4 Nonsynonymous SNV D249E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.002 232358 chr2 61412976 61412977 AG - rs758479460 AHSA2P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 232359 chr19 58058740 58058740 T C rs534898048 ZNF550 Nonsynonymous SNV Q291R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 232360 chr15 75013077 75013077 C T rs746078945 CYP1A1 Nonsynonymous SNV R402Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 232361 chr2 64126660 64126660 A G VPS54 Nonsynonymous SNV M882T 0.002 0 0 0 2 0 0 0 0 0 0 0 27 232362 chrX 49067820 49067820 C T rs782741094 CACNA1F Nonsynonymous SNV A1408T 0 0.005 0 2 0 2 0.005 0 0 1 0 1 Uncertain significance 22.8 232363 chr15 76673956 76673956 C T rs199859385 SCAPER Synonymous SNV R910R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 232364 chr6 107070726 107070726 C G RTN4IP1 Synonymous SNV G31G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 232365 chr6 109283300 109283300 G A rs146571005 ARMC2 Nonsynonymous SNV D543N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 232366 chr19 54103438 54103438 A T rs16985063 LOC284379 0 0 0.01 0 0 0 0 3 0 0 0 0 0.697 232367 chr7 130025117 130025117 C G CPA1 Nonsynonymous SNV H306Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 232368 chr2 73184193 73184193 C G SFXN5 Nonsynonymous SNV G329R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.428 232369 chr2 73496521 73496521 G C FBXO41 Nonsynonymous SNV R80G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.1 232370 chr19 7542128 7542128 G A rs376621423 PEX11G Nonsynonymous SNV A168V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 232371 chr19 55221901 55221901 G C rs117696142 LILRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 232372 chr19 55221909 55221909 T G rs1051034019 LILRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 2.387 232373 chr19 55221934 55221934 C A rs910937719 LILRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 7.474 232374 chr19 45375302 45375302 C T NECTIN2 Nonsynonymous SNV T224I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 232375 chr2 74641660 74641660 C T C2orf81 Synonymous SNV P453P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.11 232376 chr15 86312449 86312449 G A rs763666698 KLHL25 Nonsynonymous SNV S198L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 232377 chr19 46267340 46267340 C T BHMG1 Synonymous SNV A627A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 232378 chr19 55595013 55595013 G A rs776170568 EPS8L1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 232379 chr19 55805412 55805412 G A rs138020752 BRSK1 Synonymous SNV L162L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 232380 chr19 8654444 8654444 C T rs542904700 ADAMTS10 Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 232381 chr15 89424834 89424834 G A rs760490810 HAPLN3 Nonsynonymous SNV R83C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 232382 chr7 142583275 142583275 G A TRPV6 Nonsynonymous SNV P36L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 232383 chr19 56241346 56241346 C A NLRP9 Nonsynonymous SNV K615N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 232384 chr15 90903987 90903987 G A rs369362537 ZNF774 Synonymous SNV K308K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.095 232385 chr13 42876103 42876103 C T rs61756566 AKAP11 Nonsynonymous SNV S1074F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.1 232386 chr3 100583699 100583699 T C rs146526992 ABI3BP Synonymous SNV L354L 0.003 0 0 0 3 0 0 0 0 0 0 0 2.291 232387 chr13 43174896 43174896 A G rs34151971 TNFSF11 Synonymous SNV Q132Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.99 232388 chr15 91553071 91553071 A G rs149733667 VPS33B Synonymous SNV Y94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.8 232389 chr15 99434813 99434813 C T IGF1R Synonymous SNV D300D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 232390 chr19 50102913 50102913 C T rs765575058 PRR12 Synonymous SNV L1355L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.74 232391 chr7 150939023 150939023 C T SMARCD3 Synonymous SNV Q239Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.102 232392 chr19 50265430 50265430 G A rs148077032 TSKS Nonsynonymous SNV S77L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 232393 chr6 152784008 152784008 C T SYNE1 Synonymous SNV E712E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 232394 chr7 155538218 155538218 C T rs201397408 RBM33 Synonymous SNV V967V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.14 232395 chr6 155597015 155597015 T C rs201831727 CLDN20 Synonymous SNV C54C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.101 232396 chr1 109294904 109294904 C A STXBP3 Nonsynonymous SNV D25E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 232397 chr19 51527342 51527342 C T KLK11 Nonsynonymous SNV S141N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.506 232398 chr19 51656523 51656526 TTGT - rs759972757 LOC101928517 0.001 0 0 0 1 0 0 0 0 0 0 0 232399 chr16 19460888 19460888 G A rs16972013 TMC5 Nonsynonymous SNV S328N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.044 232400 chr16 19547727 19547727 C T rs775264049 CCP110 Nonsynonymous SNV R246C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.1 232401 chr16 20043268 20043268 A G GPR139 Nonsynonymous SNV L284P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 232402 chr1 112269820 112269820 G C rs768843965 INKA2 Nonsynonymous SNV R222G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 232403 chr3 124351542 124351542 G A rs768175968 KALRN Nonsynonymous SNV A121T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 232404 chr3 124627007 124627007 C T rs61730148 MUC13 Nonsynonymous SNV R508H 0.002 0 0 0 2 0 0 0 0 0 0 0 17 232405 chr1 114354867 114354867 C G rs141450686 RSBN1 Synonymous SNV V56V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.584 232406 chr1 40928744 40928744 A G rs146396152 ZFP69B Nonsynonymous SNV Y363C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 232407 chr3 130116917 130116917 - AATG COL6A5 Frameshift insertion L1320Nfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 232408 chr19 54660603 54660603 C T LENG1 Nonsynonymous SNV R158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 232409 chr19 929581 929581 G A rs763786581 ARID3A Nonsynonymous SNV R18H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 232410 chr7 5410460 5410460 C T TNRC18 Synonymous SNV V1255V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.06 232411 chr7 5545216 5545216 T C FBXL18 Nonsynonymous SNV M22V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 232412 chr1 104113283 104113283 G A ACTG1P4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 232413 chr1 1361554 1361554 G A TMEM88B Nonsynonymous SNV G16D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.051 232414 chr1 14107964 14107964 A T PRDM2 Nonsynonymous SNV E1024V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 232415 chr16 3297166 3297166 G C rs104895083 MEFV Nonsynonymous SNV F268L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 232416 chr1 51613388 51613388 T A C1orf185 Nonsynonymous SNV L182Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 232417 chr3 137850019 137850019 G A A4GNT Nonsynonymous SNV S27F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 232418 chr16 335329 335329 C T rs374179213 PDIA2 Synonymous SNV F271F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.81 232419 chr16 4029164 4029164 G A rs116402482 ADCY9 Synonymous SNV L878L 0.003 0.008 0 2 3 3 0.005 0 0 0 0 0 Benign 3.011 232420 chr8 27824041 27824041 C G SCARA5 Nonsynonymous SNV R44P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 232421 chr1 111824309 111824309 C T rs41281396 CHIAP2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.553 232422 chr14 34269919 34269919 G C rs547699337 NPAS3 Synonymous SNV V772V 0.002 0.003 0 4 2 1 0.01 0 0 0 0 0 0.079 232423 chr14 35742684 35742684 C T rs762794607 PRORP Nonsynonymous SNV S183L 0 0.003 0 4 0 1 0.01 0 0 0 0 0 35 232424 chr1 152127563 152127563 G A rs761009742 RPTN Nonsynonymous SNV P671L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 232425 chr16 50332824 50332824 T A ADCY7 Nonsynonymous SNV C320S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 232426 chr7 27186967 27186967 G A rs147820248 HOXA6 Synonymous SNV S134S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.468 232427 chr1 15438832 15438839 TGTGTGTG - TMEM51-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 232428 chr16 569782 569782 A G RAB11FIP3 Nonsynonymous SNV E274G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 232429 chr1 154987589 154987589 G A rs199717216 ZBTB7B Synonymous SNV P151P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.503 232430 chr1 155007146 155007146 G A rs201911650 DCST1 Nonsynonymous SNV V69M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 232431 chr16 57188396 57188396 C T PSME3IP1 Nonsynonymous SNV G191R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 232432 chr8 87081671 87081671 - AAGG PSKH2 Frameshift insertion A61Pfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 232433 chr7 40174081 40174081 C T rs565833937 MPLKIP Nonsynonymous SNV G29E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 232434 chr14 60433367 60433367 C T rs144928182 LRRC9 Synonymous SNV Y424Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.06 232435 chr19 6467966 6467966 G A rs202155397 DENND1C Nonsynonymous SNV T608M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.539 232436 chr8 101251617 101251617 A T rs148883126 SPAG1 Nonsynonymous SNV K755N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.2 232437 chr1 153945520 153945520 C T CREB3L4 Nonsynonymous SNV R237W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 232438 chr1 154226478 154226478 C T rs752946273 UBAP2L Synonymous SNV G589G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 232439 chr8 109796644 109796644 C G rs148272291 TMEM74 Synonymous SNV L228L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.851 232440 chr1 90399620 90399620 C T rs1028365112 LRRC8D Synonymous SNV N331N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.616 232441 chr16 775878 775878 G C rs140761899 CCDC78 Nonsynonymous SNV I61M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 232442 chr1 158298743 158298743 C G CD1B Nonsynonymous SNV L316F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.94 232443 chr1 67861573 67861575 ATG - IL12RB2 D712del 0.001 0 0 0 1 0 0 0 0 0 0 0 232444 chr1 16528300 16528300 T C ARHGEF19 Nonsynonymous SNV K708R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.9 232445 chr1 94528142 94528142 A C rs61754024 ABCA4 Nonsynonymous SNV V643G 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 232446 chr8 142151365 142151365 G A DENND3 Nonsynonymous SNV A189T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 232447 chr20 1212233 1212233 A G rs996877208 RAD21L1 Nonsynonymous SNV E113G 0.001 0 0 0 1 0 0 0 0 0 0 0 29 232448 chr1 17282035 17282035 G A CROCC Nonsynonymous SNV E1232K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 232449 chr16 88501374 88501374 C T rs1015197481 ZNF469 Nonsynonymous SNV P2499L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.749 232450 chr7 94915600 94915600 C A PPP1R9A Nonsynonymous SNV P947Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 232451 chr3 38591914 38591914 G A rs397517957 SCN5A Synonymous SNV A1965A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.547 232452 chr1 168215778 168215778 A G rs56206841 ANKRD36BP1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.301 232453 chr1 175097739 175097739 C T rs567019332 TNN Nonsynonymous SNV R1063C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 232454 chr7 97821136 97821136 C T LMTK2 Synonymous SNV D453D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 232455 chr8 144891019 144891019 A G rs771994279 SCRIB Synonymous SNV V625V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.202 232456 chr7 99751553 99751553 G A rs751559189 LAMTOR4 Nonsynonymous SNV R62K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 232457 chr1 92846306 92846306 A G rs751854870 RPAP2 Nonsynonymous SNV K572E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 232458 chr7 100030929 100030929 A G rs754142254 MEPCE Nonsynonymous SNV E645G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 232459 chr1 178433539 178433539 G A rs776644971 RASAL2 Nonsynonymous SNV A986T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 232460 chr1 171118875 171118875 C T FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 232461 chr1 93736073 93736073 G A rs189445050 CCDC18 Nonsynonymous SNV R1351H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.2 232462 chr1 172502364 172502364 C T SUCO Nonsynonymous SNV S125F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 232463 chr1 95699811 95699811 C T rs201020669 RWDD3 Nonsynonymous SNV L9F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 232464 chr16 89930269 89930269 G C SPIRE2 Nonsynonymous SNV R593T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 232465 chr8 145170737 145170737 T C WDR97 Nonsynonymous SNV V1524A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 232466 chr8 145533221 145533221 T A rs202242509 HSF1 Nonsynonymous SNV C103S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23 232467 chr1 17738633 17738633 C T rs759309869 RCC2 Synonymous SNV P457P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 232468 chr20 35390900 35390900 T C rs199975771 DSN1 Nonsynonymous SNV D78G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 232469 chr1 19525064 19525064 C T UBR4 Nonsynonymous SNV A207T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.62 232470 chr3 49395699 49395699 G A GPX1 Nonsynonymous SNV R5W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 232471 chr1 197094290 197094290 C T rs142537154 ASPM Nonsynonymous SNV D990N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.018 232472 chr1 201044636 201044636 G A rs550584336 CACNA1S Synonymous SNV F645F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 13.17 232473 chr3 52549467 52549467 G A rs765231140 STAB1 Nonsynonymous SNV R1298Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 232474 chr3 52858458 52858458 C T rs773848439 ITIH4 Nonsynonymous SNV V334M 0.002 0 0 0 2 0 0 0 0 0 0 0 19.59 232475 chr7 100647646 100647646 A G rs111352779 MUC12 Nonsynonymous SNV E4601G 0.002 0.005 0.027 0 2 2 0 8 0 0 4 0 0.216 232476 chr3 53898806 53898806 C T rs150506112 IL17RB Nonsynonymous SNV T327I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.655 232477 chr1 145517309 145517309 G A rs782445606 PEX11B Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 232478 chr1 20072025 20072025 G A rs199727655 TMCO4 Nonsynonymous SNV R293C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 232479 chr9 32491339 32491339 T C rs770573153 DDX58 Synonymous SNV P217P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.317 232480 chr1 147096679 147096679 G A BCL9 Nonsynonymous SNV M1400I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 232481 chr7 106509146 106509146 A T PIK3CG Synonymous SNV T380T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 232482 chr1 12445407 12445407 A T rs142270656 VPS13D Nonsynonymous SNV N3795I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 25.8 232483 chr1 1246414 1246414 C T rs566981480 PUSL1 Synonymous SNV H298H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.093 232484 chr7 107743598 107743598 G A rs373050835 LAMB4 Synonymous SNV G357G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.35 232485 chr3 62253141 62253141 G A rs200045412 PTPRG Nonsynonymous SNV D905N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 232486 chr7 107790526 107790526 T C rs62001038 NRCAM Synonymous SNV K1111K 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 0.013 232487 chr7 108524090 108524090 A G rs77025226 C7orf66 Nonsynonymous SNV S108P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 232488 chr20 47849905 47849905 G A rs749215203 DDX27 Nonsynonymous SNV R396H 0.003 0 0 0 4 0 0 0 0 0 0 0 34 232489 chr9 35740559 35740559 C T rs201219745 GBA2 Nonsynonymous SNV D365N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 232490 chr1 204923448 204923448 T C NFASC Synonymous SNV Y110Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.31 232491 chr17 27031041 27031041 G T PROCA1 Nonsynonymous SNV D66E 0.001 0 0 0 1 0 0 0 0 0 0 0 24 232492 chr17 27043941 27043941 C T RAB34 Nonsynonymous SNV A190T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 232493 chr7 116403190 116403190 C G MET Synonymous SNV T387T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.186 232494 chr1 203669437 203669437 C A rs144182897 ATP2B4 Nonsynonymous SNV D251E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 232495 chr3 97592277 97592277 G C rs554785329 CRYBG3 Nonsynonymous SNV G747R 0.003 0 0 0 4 0 0 0 0 0 0 0 18.74 232496 chr1 206650059 206650059 C T rs781852259 IKBKE Synonymous SNV P108P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 232497 chr3 97852456 97852456 A - rs750155763 OR5H1 K307Nfs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 232498 chr1 2075740 2075740 G A rs142085528 PRKCZ Nonsynonymous SNV R67H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 232499 chr3 98189012 98189012 G A rs139481579 OR5K1 Nonsynonymous SNV V198I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.273 232500 chr1 207990648 207990648 T C rs901381644 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 8.95 232501 chr1 156563834 156563834 G A rs138714790 NAXE Synonymous SNV L275L 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.72 232502 chr9 80921300 80921300 G A rs200962308 PSAT1 Synonymous SNV T156T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 2.585 232503 chr1 154227351 154227351 A G UBAP2L Nonsynonymous SNV T632A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 232504 chr4 100479348 100479348 C T rs147815779 TRMT10A Nonsynonymous SNV R69H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 24.1 232505 chr7 138603265 138603265 C T rs370830770 KIAA1549 Synonymous SNV A369A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.71 232506 chr20 61595615 61595615 G T SLC17A9 Synonymous SNV A286A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.32 232507 chr9 99580383 99580383 G A ZNF782 Nonsynonymous SNV T617I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 232508 chr20 62178562 62178562 G A rs143856117 SRMS Synonymous SNV G85G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.145 232509 chr7 141618868 141618868 C G rs782224162 OR9A4 Nonsynonymous SNV L65V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 232510 chr9 106901521 106901521 A G rs73665520 SMC2 Synonymous SNV Q1173Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.594 232511 chr20 744420 744420 G T SLC52A3 Synonymous SNV I265I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.32 232512 chr1 227171487 227171487 C T rs139133094 COQ8A Synonymous SNV D396D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.68 232513 chr1 227954668 227954668 C G rs182307106 SNAP47 Nonsynonymous SNV L333V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 232514 chr17 39412033 39412033 A G rs553345208 KRTAP9-9 Synonymous SNV G132G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.047 232515 chr9 113459690 113459690 T G MUSK Nonsynonymous SNV V191G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 232516 chr7 148525912 148525912 T C rs746465165 EZH2 Nonsynonymous SNV N143S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.085 232517 chr9 114825282 114825282 C T rs778638896 SUSD1 Synonymous SNV T595T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 232518 chr21 31802795 31802795 C A rs149698885 KRTAP13-4 Nonsynonymous SNV P68T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 232519 chr21 32090989 32090989 C T rs760518532 KRTAP21-3 Nonsynonymous SNV C30Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 232520 chr15 85327460 85327460 A G rs61742397 ZNF592 Synonymous SNV S518S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.091 232521 chr15 85342439 85342439 C T rs61746436 ZNF592 Synonymous SNV C1045C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 232522 chr21 34861360 34861360 T G rs147509336 DNAJC28 Nonsynonymous SNV Q114P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.243 232523 chr1 234565890 234565890 A C rs747763271 TARBP1 Nonsynonymous SNV L851R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 232524 chr15 85438616 85438616 A G rs151297638 SLC28A1 Nonsynonymous SNV R157G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.785 232525 chr7 150490365 150490365 A T rs757915168 TMEM176B Synonymous SNV A100A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 232526 chr1 235827874 235827874 C T rs147221131 LYST Nonsynonymous SNV V3696I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 19.77 232527 chr1 22915508 22915508 G A rs201818748 EPHA8 Nonsynonymous SNV R375H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 232528 chr1 229772068 229772068 T G URB2 Nonsynonymous SNV C570G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 232529 chr1 230193815 230193815 T C GALNT2 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 2.566 232530 chr7 150706640 150706640 G A rs3918232 NOS3 Nonsynonymous SNV V827M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.1 232531 chr1 232551271 232551271 G C rs199868955 SIPA1L2 Synonymous SNV T1577T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.96 232532 chr17 42429813 42429813 C T rs768852944 GRN Synonymous SNV T506T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.95 232533 chr1 244869041 244869041 G A rs776627228 DESI2 Nonsynonymous SNV V146M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.525 232534 chr17 45890973 45890973 C T rs888913478 OSBPL7 Nonsynonymous SNV A527T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 232535 chr1 2410006 2410006 C T rs754782284 PLCH2 Synonymous SNV D45D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 232536 chr1 247201301 247201301 T C rs371336738 ZNF670 Nonsynonymous SNV N206S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 232537 chr21 45709592 45709592 G A rs145255118 AIRE Synonymous SNV K235K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 4.221 232538 chr4 186336905 186336905 G A rs746849602 UFSP2 Synonymous SNV V150V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 232539 chr9 134073858 134073858 G C NUP214 Nonsynonymous SNV Q485H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 232540 chr4 38829815 38829815 A G rs5743815 TLR6 Nonsynonymous SNV V427A 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 0.003 232541 chr1 27176901 27176901 C T rs766302100 ZDHHC18 Synonymous SNV F252F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.51 232542 chr8 25149562 25149562 G T rs764175983 DOCK5 Nonsynonymous SNV R115L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 232543 chr1 29069036 29069036 A T rs202034293 YTHDF2 Nonsynonymous SNV Y35F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 232544 chr22 24581256 24581256 G A rs546807667 SUSD2 Nonsynonymous SNV R326H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 232545 chr17 65116589 65116589 G T rs199823239 HELZ Nonsynonymous SNV P1258Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 232546 chr1 32741263 32741263 G C LCK Nonsynonymous SNV E157D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 232547 chr17 67152981 67152981 T C rs141937290 ABCA10 Synonymous SNV P1149P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.769 232548 chr8 28575546 28575546 A G rs770842408 EXTL3 Nonsynonymous SNV N657S 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 22 232549 chr1 34006739 34006739 C T rs139840174 CSMD2 Nonsynonymous SNV V3006I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 232550 chr1 226186901 226186901 T C SDE2 Nonsynonymous SNV Q38R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 232551 chr1 36060056 36060056 C T rs201962301 TFAP2E Nonsynonymous SNV R370C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 232552 chr9 140374926 140374926 G A rs375136543 PNPLA7 Synonymous SNV H781H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.328 232553 chr9 140441298 140441298 C T rs777428356 PNPLA7 Nonsynonymous SNV R61Q 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 232554 chr9 140509285 140509285 A G ARRDC1 Nonsynonymous SNV E357G 0.003 0 0 0 3 0 0 0 0 0 0 0 1.173 232555 chr1 35260426 35260426 G A rs140270702 GJA4 Synonymous SNV T204T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.332 232556 chr8 42233236 42233236 C T rs758663008 DKK4 Nonsynonymous SNV R75Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 232557 chr16 30129470 30129470 G A rs769437533 MAPK3 Synonymous SNV G186G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.318 232558 chr8 53555133 53555133 G C rs889627101 RB1CC1 Nonsynonymous SNV S1372C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 232559 chr16 30749342 30749342 G A rs576461942 SRCAP Nonsynonymous SNV D2661N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.64 232560 chr16 30991363 30991363 G C rs781047239 SETD1A Nonsynonymous SNV S1419T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 232561 chr16 31098059 31098059 C T rs368376464 PRSS53 Nonsynonymous SNV A135T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.337 232562 chr1 38512281 38512281 C T POU3F1 Synonymous SNV A45A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 232563 chr1 206231125 206231125 G T rs376759800 AVPR1B Stop gain E420X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 232564 chr22 36723530 36723530 C T rs576081279 MYH9 Nonsynonymous SNV R165Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 232565 chr1 41976665 41976665 G A rs137918317 HIVEP3 Synonymous SNV S2225S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.56 232566 chr17 73996233 73996233 G A rs201043191 TEN1 Nonsynonymous SNV V88M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.102 232567 chr10 15655661 15655661 G A rs769890128 ITGA8 Synonymous SNV A502A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.311 232568 chr1 211840541 211840541 G A rs374240174 NEK2 Synonymous SNV L340L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 232569 chr1 53580463 53580463 A T rs985546249 SLC1A7 Nonsynonymous SNV M133K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 232570 chr1 215777621 215777621 T C KCTD3 Nonsynonymous SNV L429P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 232571 chr8 100160206 100160206 G A rs149334616 VPS13B Nonsynonymous SNV D661N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.75 232572 chr17 76457764 76457764 C A rs746129508 DNAH17 Synonymous SNV A3067A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.23 232573 chr1 55148455 55148455 C T rs375161664 MROH7 Synonymous SNV I354I 0 0 0.007 0 0 0 0 2 0 0 0 0 11.4 232574 chr8 105361646 105361646 A G rs935641995 DCSTAMP Nonsynonymous SNV E289G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 232575 chr8 107705055 107705055 T C OXR1 Nonsynonymous SNV F202L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.48 232576 chr22 43870737 43870737 G A rs375444166 MPPED1 Synonymous SNV L176L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.504 232577 chr16 56438923 56438923 G A rs533111682 AMFR Synonymous SNV H246H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.622 232578 chr8 110424563 110424563 C T rs145408242 PKHD1L1 Nonsynonymous SNV P719S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 232579 chr8 110467034 110467034 A G rs761128271 PKHD1L1 Nonsynonymous SNV Y2276C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 232580 chr1 55252635 55252635 C T rs554450298 TTC22 Nonsynonymous SNV G285S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 232581 chr8 124219571 124219571 T C FAM83A Synonymous SNV N260N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.021 232582 chr8 124748023 124748023 C T rs201094354 ANXA13 Nonsynonymous SNV R37Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13 232583 chr16 68071976 68071976 C - DUS2 P18Qfs*5 0.002 0 0 1 2 0 0.003 0 0 0 0 0 232584 chr5 107717269 107717269 G C rs754258862 FBXL17 Nonsynonymous SNV P42A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.171 232585 chr17 79650776 79650776 A C rs543953971 ARL16 Nonsynonymous SNV L27R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 232586 chr1 75072441 75072441 T C ERICH3 Nonsynonymous SNV I445V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 232587 chr17 79781151 79781151 C T MCRIP1 Nonsynonymous SNV R55Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 232588 chr16 70504305 70504305 C G rs17880985 FCSK Synonymous SNV A348A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 14.55 232589 chr1 8419848 8419848 - CGCTCT rs769497707 RERE E647_A648insRE 0 0 0.003 0 0 0 0 1 0 0 0 0 232590 chr1 231401508 231401508 T C rs202033127 GNPAT Synonymous SNV S188S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.529 232591 chr16 81213280 81213280 G A rs74949724 PKD1L2 Nonsynonymous SNV R59W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.702 232592 chr1 85491878 85491878 T C rs771367266 MCOLN3 Nonsynonymous SNV I252V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 232593 chr1 85595760 85595760 A C WDR63 Nonsynonymous SNV K794Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.992 232594 chr2 113487266 113487266 C G rs572963233 NT5DC4 Synonymous SNV L411L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.557 232595 chr18 22030772 22030772 C T IMPACT Synonymous SNV N308N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 232596 chr18 2796462 2796462 C T rs747322089 SMCHD1 Nonsynonymous SNV T1979M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 232597 chr1 94490566 94490566 C T rs138831474 ABCA4 Synonymous SNV T1526T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.08 232598 chr8 144997024 144997024 G A rs782367691 PLEC Nonsynonymous SNV A2344V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.486 232599 chr1 949615 949615 G A ISG15 Synonymous SNV L85L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 232600 chr1 2436312 2436312 G A rs749192490 PLCH2 Nonsynonymous SNV R1304H 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 7.511 232601 chr5 13864741 13864741 C T rs542708170 DNAH5 Nonsynonymous SNV R1454Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 232602 chr1 9101939 9101939 C T rs61737428 SLC2A5 Nonsynonymous SNV R12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 232603 chr1 981984 981984 C T rs751987634 AGRN Nonsynonymous SNV T1040M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 232604 chr20 1162184 1162184 A G TMEM74B Nonsynonymous SNV S3P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 232605 chr20 1905429 1905429 A G rs375872863 SIRPA Synonymous SNV E369E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.021 232606 chr18 50936935 50936935 A G rs984274 DCC Nonsynonymous SNV M1017V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.17 232607 chr20 1558986 1558986 C T rs201638914 SIRPB1 Nonsynonymous SNV R144H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.348 232608 chr9 5361760 5361760 A G PLGRKT Synonymous SNV A70A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.86 232609 chr1 249211053 249211053 T A rs773260258 PGBD2 Nonsynonymous SNV N90K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 232610 chr5 14488245 14488245 C T rs770760244 TRIO Nonsynonymous SNV P2503L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 232611 chr20 257762 257762 T A rs775014541 C20orf96 Nonsynonymous SNV M249L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 232612 chr18 5890931 5890931 C T TMEM200C Nonsynonymous SNV A378T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 232613 chr2 61622362 61622362 A G USP34 Nonsynonymous SNV S187P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 232614 chr2 170094762 170094762 C T rs772588594 LRP2 Nonsynonymous SNV D1449N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 232615 chr9 35548049 35548049 C T rs142635607 RUSC2 Synonymous SNV L511L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.193 232616 chr1 36603504 36603504 T C rs780808695 TRAPPC3 Nonsynonymous SNV I40V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.94 232617 chr1 36935271 36935271 T C rs767301627 CSF3R Nonsynonymous SNV T486A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.452 232618 chr18 8786006 8786020 CGAGCCGCGCGGGAG - rs569097168 MTCL1 R602_E606del 0.002 0 0 0 2 0 0 0 0 0 0 0 232619 chr20 43538889 43538889 C T PABPC1L Synonymous SNV G35G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 232620 chr20 33586714 33586714 G A rs768728148 MYH7B Nonsynonymous SNV A1438T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 232621 chr20 33587623 33587623 G A rs185140784 MYH7B Synonymous SNV T1607T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 232622 chr20 34241281 34241281 G A rs150406619 RBM12 Nonsynonymous SNV A655V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 8.26 232623 chr20 34242408 34242408 C A rs140930448 RBM12 Synonymous SNV P279P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 232624 chr20 44420707 44420707 G A DNTTIP1 Nonsynonymous SNV E22K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 232625 chr9 75538953 75538953 G C ALDH1A1 Synonymous SNV A243A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.84 232626 chr10 112572426 112572426 C T RBM20 Synonymous SNV D757D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.113 232627 chr9 77567341 77567341 T G C9orf40 Nonsynonymous SNV M63L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.53 232628 chr5 167993171 167993171 T C rs766659565 PANK3 Nonsynonymous SNV Y161C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 232629 chr20 47886780 47886780 C T ZNFX1 Synonymous SNV Q523Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.246 232630 chr20 40730915 40730915 C T rs753788938 PTPRT Nonsynonymous SNV R1188H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 232631 chr9 84230946 84230946 G A rs777351562 TLE1 Nonsynonymous SNV T300M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 232632 chr9 95013027 95013027 G C rs139226776 IARS1 Synonymous SNV L771L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.88 232633 chr20 45174632 45174632 A G rs184507425 OCSTAMP Synonymous SNV T127T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.95 232634 chr20 57782005 57782005 T C rs995037651 ZNF831 Synonymous SNV S1307S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.268 232635 chr9 96209960 96209960 A G FAM120AOS Nonsynonymous SNV V53A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.721 232636 chr19 11513143 11513143 C T rs745637604 RGL3 Synonymous SNV P439P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.48 232637 chr20 61525339 61525339 G A rs759008770 DIDO1 Nonsynonymous SNV T927M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.74 232638 chr5 37182940 37182940 T A rs73750949 CPLANE1 Synonymous SNV T1781T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.73 232639 chr5 37244669 37244669 C T rs73750958 CPLANE1 Synonymous SNV G126G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.32 232640 chr5 37245935 37245935 C T rs73750959 CPLANE1 Nonsynonymous SNV V32I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.8 232641 chr1 6253019 6253019 G C rs200101942 RPL22 Synonymous SNV T71T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.79 232642 chr5 37299007 37299007 G A rs216400 NUP155 Synonymous SNV G1188G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.41 232643 chr5 37310765 37310765 A G rs53429 NUP155 Synonymous SNV A780A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.25 232644 chr2 207631480 207631480 G A rs201816518 FASTKD2 Synonymous SNV A21A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 232645 chr9 114155137 114155137 C T rs368735269 ECPAS Synonymous SNV K1001K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 232646 chr20 61467586 61467586 C T rs151056612 COL9A3 Synonymous SNV N483N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.56 232647 chr1 64027454 64027454 C G rs144850202 EFCAB7 Nonsynonymous SNV R475G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 232648 chr19 16006315 16006315 C T rs1015884828 CYP4F2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 232649 chr19 16192806 16192806 G C rs535782808 TPM4 Synonymous SNV T72T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.97 232650 chr2 210806081 210806081 G A rs746042765 UNC80 Synonymous SNV G2195G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.01 232651 chr9 117139036 117139036 G A AKNA Nonsynonymous SNV R232W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 232652 chr19 16980360 16980360 C T rs149058304 SIN3B Synonymous SNV D222D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 232653 chr5 54277973 54277973 G T rs759714558 ESM1 Nonsynonymous SNV D101E 0.003 0 0 0 3 0 0 0 0 0 0 0 10.42 232654 chr20 62598870 62598870 G A rs770288716 ZNF512B Nonsynonymous SNV P43L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 232655 chr1 68954160 68954160 G A rs747223046 DEPDC1 Synonymous SNV S206S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 232656 chr19 17373744 17373744 - T rs765584692 USHBP1 Frameshift insertion V23Sfs*103 0.002 0 0 0 2 0 0 0 0 0 0 0 232657 chr2 219374729 219374729 G A rs144252089 USP37 Nonsynonymous SNV S333F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 232658 chr5 68417611 68417611 A G rs35242104 SLC30A5 Nonsynonymous SNV S554G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 232659 chr21 31914057 31914057 A C rs560100335 KRTAP19-6 Stop gain Y32X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 232660 chr2 220313208 220313208 G C rs770193963 SPEG Nonsynonymous SNV R443P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 232661 chr5 70806131 70806131 G C rs75859503 BDP1 Nonsynonymous SNV S1071T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 232662 chr21 43524191 43524191 G A rs544936734 UMODL1 Nonsynonymous SNV V505M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 232663 chr5 70840943 70840943 C G rs755711065 BDP1 Nonsynonymous SNV P2214R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 232664 chr19 18391277 18391277 G A rs762248914 JUND Nonsynonymous SNV P297S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 232665 chr5 71493877 71493877 A T rs2227917 MAP1B Synonymous SNV P1439P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 232666 chr21 43543057 43543057 C T rs757477018 UMODL1 Nonsynonymous SNV R1038W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 232667 chr2 220405062 220405062 C T rs775044196 CHPF Synonymous SNV P295P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 232668 chr19 19338339 19338339 G A rs761188774 NCAN Nonsynonymous SNV R637H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 232669 chr2 220423116 220423116 G A rs768636811 OBSL1 Nonsynonymous SNV R1098C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 232670 chr21 45506743 45506743 C T rs139545421 TRAPPC10 Nonsynonymous SNV T347M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 232671 chr2 222428584 222428584 T C rs956121769 EPHA4 Synonymous SNV R179R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.097 232672 chr19 20230005 20230005 C T rs782627502 ZNF90 Nonsynonymous SNV R548C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 232673 chr5 77334990 77334990 C T AP3B1 Nonsynonymous SNV G847S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 232674 chr9 131600022 131600022 T A KYAT1 Nonsynonymous SNV K120I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 232675 chr21 43246364 43246364 G A PRDM15 Synonymous SNV N564N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 232676 chr21 47552040 47552040 G A rs143749884 COL6A2 Synonymous SNV A878A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.317 232677 chr19 2917344 2917345 AT - rs751564165 ZNF57 H210Rfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 232678 chr21 45707413 45707413 G A AIRE Synonymous SNV K159K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.472 232679 chr9 136029264 136029264 A G GBGT1 Nonsynonymous SNV L242P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.832 232680 chr5 98236576 98236576 A G CHD1 Synonymous SNV P266P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.21 232681 chr19 36002407 36002421 CCACTGCTGCTGCCA - rs754628949 DMKN G271_G275del 0.001 0 0 0 1 0 0 0 0 0 0 0 232682 chr21 47717509 47717509 G A rs760839063 YBEY Synonymous SNV R112R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.808 232683 chr6 106764059 106764059 G A ATG5 Stop gain R9X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 232684 chr22 23605358 23605358 G A rs565099970 FBXW4P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.23 232685 chr9 137658307 137658307 C T rs142313124 COL5A1 Nonsynonymous SNV T699M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 232686 chr19 36362933 36362933 G A APLP1 Nonsynonymous SNV G282D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 232687 chr2 206418054 206418054 G A rs865895511 PARD3B Nonsynonymous SNV G994R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 232688 chr9 139258682 139258682 G A CARD9 0 0.003 0 0 0 1 0 0 0 0 0 0 4.724 232689 chr20 3027079 3027079 G A rs9006 MRPS26 Synonymous SNV A91A 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 13.17 232690 chr20 30497663 30497663 G A rs776756851 TTLL9 Nonsynonymous SNV E148K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 232691 chr2 26416543 26416543 C T rs190409957 HADHA Synonymous SNV A596A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.07 232692 chr22 31522977 31522977 G A rs200813209 INPP5J Nonsynonymous SNV R87Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 232693 chr19 38572881 38572881 C T rs147366609 SIPA1L3 Nonsynonymous SNV R226C 0.001 0 0.01 0 1 0 0 3 0 0 0 0 33 232694 chr2 218712362 218712362 G A rs367588026 TNS1 Nonsynonymous SNV P835S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 232695 chr22 32666003 32666003 C T rs7290281 SLC5A4-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.221 232696 chr22 32666945 32666945 C T rs62241071 SLC5A4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.468 232697 chr19 38755578 38755578 C T rs367656580 SPINT2 Synonymous SNV L16L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.45 232698 chr2 27373015 27373015 G A rs762601345 TCF23 Nonsynonymous SNV A83T 0.001 0 0 0 1 0 0 0 0 0 0 0 28 232699 chr19 38901634 38901634 G A rs564169913 RASGRP4 Synonymous SNV S430S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 232700 chr19 38969139 38969139 C T rs752736122 RYR1 Nonsynonymous SNV R1507W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 232701 chr2 27886683 27886683 G C SLC4A1AP Nonsynonymous SNV D22H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 232702 chr22 38468515 38468515 G T PICK1 Synonymous SNV V196V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 232703 chr20 3673687 3673687 G A rs763372403 SIGLEC1 Synonymous SNV P1200P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.591 232704 chr22 40803471 40803471 G A rs140993538 SGSM3 Nonsynonymous SNV V412M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 232705 chr20 36841934 36841934 C T rs775747625 KIAA1755 Nonsynonymous SNV R689Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.942 232706 chr17 72733229 72733229 G T RAB37 Synonymous SNV R27R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.224 232707 chr6 143784081 143784081 G A rs760054177 PEX3 Synonymous SNV E78E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 232708 chr20 389393 389393 C A rs140276089 RBCK1 Nonsynonymous SNV A4D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.2 232709 chr6 150211985 150211985 A G rs756811360 RAET1E Nonsynonymous SNV L18P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 232710 chr2 39249864 39249864 G C rs200786705 SOS1 Nonsynonymous SNV L569V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.21 232711 chr22 37603811 37603811 G A rs759139510 SSTR3 Nonsynonymous SNV T11M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 232712 chr2 44041679 44041679 A G ABCG5 Nonsynonymous SNV F567L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 232713 chr11 11374475 11374475 T A CSNK2A3 Nonsynonymous SNV K64N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 232714 chr10 17363184 17363184 A T rs369039122 ST8SIA6 Nonsynonymous SNV L297Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 232715 chr22 41926859 41926859 G A rs140901049 POLR3H Synonymous SNV Y102Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.526 232716 chr22 50573036 50573036 A G rs3736689 MOV10L1 Nonsynonymous SNV S683G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 232717 chr22 50616461 50616461 G T rs769937375 PANX2 Synonymous SNV P440P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.855 232718 chr22 50897939 50897939 A C rs568299948 SBF1 Synonymous SNV G1217G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 232719 chr2 70780315 70780315 C - TGFA 0.001 0 0 0 1 0 0 0 0 0 0 0 232720 chr10 29820983 29820983 C T rs373027844 SVIL Nonsynonymous SNV E653K 0 0.003 0 0 0 1 0 0 0 0 0 0 31 232721 chr10 31810705 31810705 C T rs200125768 ZEB1 Synonymous SNV I740I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.85 232722 chr20 60894763 60894763 C T rs145203663 LAMA5 Nonsynonymous SNV R2283Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.268 232723 chr6 167721344 167721344 G A rs185968029 UNC93A Nonsynonymous SNV V310I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.22 232724 chr19 45570817 45570817 G A rs768100074 CLASRP Synonymous SNV P482P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 232725 chr2 73519061 73519061 C A rs546250227 EGR4 Nonsynonymous SNV V329L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 232726 chr2 73718005 73718005 G A rs116854981 ALMS1 Synonymous SNV A2972A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 4.516 232727 chr2 74803705 74803705 T C rs143537845 M1AP Synonymous SNV P270P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 232728 chr17 79095570 79095570 C T AATK Synonymous SNV G619G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.513 232729 chr2 109545767 109545767 T C rs145518416 EDAR Synonymous SNV K81K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.355 232730 chr2 79350290 79350290 G A rs144307810 REG1A Synonymous SNV K150K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.684 232731 chr2 85923136 85923136 C T rs755303248 GNLY Nonsynonymous SNV T71M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 232732 chr19 4817223 4817223 T A rs1003883000 TICAM1 Synonymous SNV S389S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.719 232733 chr22 50633411 50633411 C T rs370601549 TRABD Nonsynonymous SNV T121M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 232734 chr20 62173672 62173672 T C rs199959982 SRMS Nonsynonymous SNV N264D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.182 232735 chr2 9543397 9543397 G A ASAP2 Nonsynonymous SNV G943R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 232736 chr17 80040450 80040450 C T rs145688025 FASN Nonsynonymous SNV E1958K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.9 232737 chr19 48807329 48807329 A G rs760357218 CCDC114 Nonsynonymous SNV M208T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 232738 chr6 27115219 27115219 G T H2AC12 Synonymous SNV A104A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.71 232739 chr19 49001898 49001898 C G rs759643958 LMTK3 Nonsynonymous SNV G839R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 232740 chr20 62421540 62421540 C T rs200051086 ZBTB46 Nonsynonymous SNV D191N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 232741 chr2 97166490 97166490 C T rs748531566 NEURL3 Nonsynonymous SNV R67Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.418 232742 chr17 80544072 80544072 C G rs111240743 FOXK2 Synonymous SNV V524V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.976 232743 chr6 3259370 3259370 C T rs184127704 PSMG4 Synonymous SNV F38F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 232744 chr2 141773439 141773439 G A rs148061725 LRP1B Synonymous SNV S672S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.19 232745 chr10 69684903 69684903 C T rs61755667 HERC4 Synonymous SNV T705T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.64 232746 chr10 70105531 70105531 C T rs201984496 RUFY2 Synonymous SNV L605L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.66 232747 chr19 50203950 50203950 A C rs150291550 CPT1C Nonsynonymous SNV Q97H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.482 232748 chr3 17208318 17208318 C T rs754841258 TBC1D5 Nonsynonymous SNV G543S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 232749 chr10 70928331 70928331 T A VPS26A Nonsynonymous SNV Y161N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 232750 chr3 112326054 112326054 A C CCDC80 Synonymous SNV V825V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.454 232751 chr6 4117647 4117647 C T rs12557 ECI2 Synonymous SNV A278A 0.003 0 0 0 3 0 0 0 0 0 0 0 19.43 232752 chr6 4119492 4119492 T C rs10708 ECI2 Synonymous SNV P241P 0.003 0 0 0 4 0 0 0 0 0 0 0 9.751 232753 chr3 32491015 32491015 - A CMTM7 Stop gain Y135* 0.001 0 0 0 1 0 0 0 0 0 0 0 232754 chr2 160755336 160755336 C T rs147937065 LY75, LY75-CD302 Nonsynonymous SNV C110Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 232755 chr2 162849856 162849856 T C rs139836605 DPP4 Synonymous SNV T746T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.648 232756 chr6 43306378 43306378 C T ZNF318 Synonymous SNV K1786K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.219 232757 chr12 11420534 11420534 C G rs200117404 PRB3 Nonsynonymous SNV G217R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.588 232758 chr6 43596813 43596813 C G rs746923660 GTPBP2 Synonymous SNV G29G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 232759 chr2 11943068 11943068 G A rs145021638 LPIN1 Nonsynonymous SNV R605H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.73 232760 chr2 11944602 11944602 G T rs369684215 LPIN1 Synonymous SNV T653T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.12 232761 chr10 74937677 74937677 T C rs201708327 FAM149B1 Nonsynonymous SNV Y76H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 232762 chr10 75549297 75549297 C T rs149927357 ZSWIM8 Synonymous SNV N210N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.96 232763 chr2 169952127 169952127 C T rs535171120 DHRS9 Synonymous SNV H270H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 232764 chr3 121410740 121410740 G A GOLGB1 Stop gain R2411X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 232765 chr10 76789953 76789953 A G KAT6B Nonsynonymous SNV N1010D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 232766 chr10 81319069 81319069 T C rs370451782 SFTPA2 Synonymous SNV P67P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 232767 chr2 121746158 121746158 C A rs775833166 GLI2 Synonymous SNV R748R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 232768 chr21 43711655 43711655 G A rs143952824 ABCG1 Synonymous SNV S526S 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 6.34 232769 chr2 179395063 179395063 G T TTN Nonsynonymous SNV Q26362K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 232770 chr3 44673666 44673666 T C ZNF197, ZNF660-ZNF197 Nonsynonymous SNV M207T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.85 232771 chr21 45533705 45533705 G A rs751363481 LOC102724159, PWP2 Nonsynonymous SNV R68H 0.003 0 0 0 3 0 0 0 0 0 0 0 13.23 232772 chr21 45817630 45817630 A G rs760954093 TRPM2 Nonsynonymous SNV S645G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 232773 chr3 126185112 126185112 C T rs368301123 ZXDC Nonsynonymous SNV V443M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 21.7 232774 chr2 182780475 182780475 G T ITPRID2 Nonsynonymous SNV C550F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.374 232775 chr21 47407548 47407548 C T rs752259110 COL6A1 Nonsynonymous SNV R262W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.6 232776 chr21 47423790 47423790 C T rs568039462 COL6A1 Nonsynonymous SNV R984C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 232777 chr2 153405580 153405580 C G rs189416564 FMNL2 Nonsynonymous SNV L110V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.3 232778 chr19 54653385 54653385 A G CNOT3 Synonymous SNV P499P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.227 232779 chr21 47831307 47831307 G A rs201709021 PCNT Nonsynonymous SNV E1656K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 232780 chr6 73934045 73934045 T G KHDC1L Nonsynonymous SNV I47L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 232781 chr2 167108345 167108345 C A rs200160858 SCN9A Nonsynonymous SNV L1134F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.89 232782 chr6 82904358 82904358 G A rs191661846 IBTK Nonsynonymous SNV A1044V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.787 232783 chr2 167143122 167143122 C T rs200065104 SCN9A Synonymous SNV A442A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.1 232784 chr2 204305273 204305273 A G rs149975027 RAPH1 Synonymous SNV S880S 0 0 0.007 0 0 0 0 2 0 0 0 0 3.658 232785 chr6 88315721 88315721 C A ORC3 Nonsynonymous SNV Q137K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.22 232786 chr7 100403169 100403169 T C EPHB4 Nonsynonymous SNV I878V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 232787 chr7 100454560 100454560 G C rs759021504 SLC12A9 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.012 232788 chr19 56718559 56718559 G C rs772010951 ZSCAN5C Nonsynonymous SNV M172I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 232789 chr2 179614103 179614103 T C TTN Nonsynonymous SNV R4342G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.268 232790 chr10 116046066 116046066 C T rs141860499 VWA2 Nonsynonymous SNV H456Y 0 0.005 0.014 0 0 2 0 4 0 0 1 0 7.415 232791 chr3 101080690 101080690 A G SENP7 Nonsynonymous SNV C334R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.6 232792 chr10 123976247 123976247 A G rs150404273 TACC2 Nonsynonymous SNV M562V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 232793 chr19 10930742 10930742 C T rs766274376 DNM2 Synonymous SNV F582F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 16.8 232794 chr2 190526333 190526333 C T rs187165993 ASDURF Synonymous SNV S29S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 9.564 232795 chr3 114058008 114058008 G T rs139619357 ZBTB20 Synonymous SNV T690T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.198 232796 chr19 11364347 11364347 G C rs201065561 DOCK6 Nonsynonymous SNV H34D 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 0.022 232797 chr2 191161631 191161631 T C HIBCH Nonsynonymous SNV K43E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.4 232798 chr19 11660176 11660176 G A rs200230865 CNN1 Synonymous SNV T180T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 232799 chr3 121207083 121207083 C A rs3218639 POLQ Nonsynonymous SNV Q1565H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 232800 chr2 198631305 198631305 G T BOLL Nonsynonymous SNV P59H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 232801 chr19 12692455 12692455 G A rs201284248 ZNF490 Nonsynonymous SNV T145M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.042 232802 chr19 12769276 12769276 A G MAN2B1 Nonsynonymous SNV Y359H 0 0 0 1 0 0 0.003 0 0 0 0 0 29 232803 chr19 12781625 12781625 A C rs758059252 WDR83 Nonsynonymous SNV I166L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 232804 chr10 134495359 134495359 C G INPP5A Synonymous SNV T6T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.125 232805 chr19 13030066 13030066 C G SYCE2 Nonsynonymous SNV E2D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 232806 chr3 184040997 184040997 G T rs112019125 EIF4G1 Nonsynonymous SNV G490C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 232807 chr3 122296663 122296663 C T rs59971113 PARP15 Nonsynonymous SNV A50V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.33 232808 chr2 234386099 234386099 G A rs375600870 USP40 Nonsynonymous SNV T1216M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 232809 chr19 6937559 6937559 G A rs140342957 ADGRE1 Nonsynonymous SNV R711Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 232810 chr2 202625670 202625670 T C ALS2 Synonymous SNV L349L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.774 232811 chr3 186572558 186572558 C T rs4068 ADIPOQ-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.927 232812 chr3 19384185 19384185 G T rs139868334 KCNH8 Nonsynonymous SNV K183N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 232813 chr3 127439979 127439979 C T rs200703589 MGLL Nonsynonymous SNV A133T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 232814 chr7 112424829 112424829 T A rs111821592 TMEM168 Nonsynonymous SNV T18S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21 232815 chr11 377277 377277 C T B4GALNT4 Synonymous SNV A718A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 232816 chr19 16435806 16435806 G A rs774160068 KLF2 Synonymous SNV Q24Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.831 232817 chr2 216272871 216272871 T G rs760580867 FN1 Synonymous SNV S826S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.858 232818 chr19 8974102 8974102 C A rs781110266 MUC16 Nonsynonymous SNV G14190V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 232819 chr2 218712887 218712895 GCTGCTGCT - rs776847274 TNS1 Q657_Q659del 0.001 0 0 0 1 0 0 0 0 0 0 0 232820 chr2 218937134 218937134 G A rs185526282 RUFY4 Nonsynonymous SNV R64Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.5 232821 chr2 242755779 242755779 G A NEU4 Nonsynonymous SNV G46E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.927 232822 chr2 24431162 24431162 G A rs371101764 ITSN2 Nonsynonymous SNV A1501V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 232823 chr2 26534693 26534693 C A rs139789678 ADGRF3 Nonsynonymous SNV A436S 0 0 0.003 3 0 0 0.008 1 0 0 0 0 18.61 232824 chr19 17838742 17838742 C T rs150761669 MAP1S Nonsynonymous SNV P824L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 18.05 232825 chr2 220094985 220094985 G A rs368799905 ANKZF1 Synonymous SNV S2S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 232826 chr2 220115579 220115579 G A rs766703407 TUBA4A Nonsynonymous SNV A266V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 232827 chr2 27248599 27248599 C T rs139273861 MAPRE3 Synonymous SNV N206N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 232828 chr2 220309413 220309413 G C rs370248588 SPEG Nonsynonymous SNV G143R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 232829 chr11 108381046 108381046 C G EXPH5 Nonsynonymous SNV G1542R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 232830 chr19 9071721 9071721 G A rs547852014 MUC16 Nonsynonymous SNV T5242I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.549 232831 chr2 33468761 33468761 C G rs545248487 LTBP1 Nonsynonymous SNV P311A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 232832 chr2 33952895 33952895 C T MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 3.983 232833 chr19 2137789 2137789 G A rs372842836 AP3D1 Synonymous SNV Y70Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 3.346 232834 chr11 117244490 117244490 G T CEP164 Nonsynonymous SNV M392I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.357 232835 chr19 9968134 9968134 G T rs774367778 OLFM2 Nonsynonymous SNV L51M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 232836 chr19 23543700 23543700 G C rs201816805 ZNF91 Nonsynonymous SNV T662S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.141 232837 chr3 4358849 4358849 G C rs369137030 SETMAR Synonymous SNV T370T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.486 232838 chr2 113330201 113330201 C T rs770019612 POLR1B Nonsynonymous SNV R502C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 232839 chr2 234255472 234255472 G A rs200602069 SAG Nonsynonymous SNV V378I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.6 232840 chr2 11348524 11348524 C G rs201820613 ROCK2 Nonsynonymous SNV E665D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 232841 chr7 150174538 150174538 T G rs138896947 GIMAP8 Nonsynonymous SNV F556L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.049 232842 chr2 61415193 61415193 G C rs373240678 AHSA2P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 232843 chr2 64819028 64819028 G A rs201280244 AFTPH Synonymous SNV P862P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.856 232844 chr19 33428552 33428552 G A rs142183812 CEP89 Nonsynonymous SNV P218S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 232845 chr19 33696337 33696337 G A rs375403587 LRP3 Nonsynonymous SNV G221R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 232846 chr19 34983954 34983954 G A rs370840550 WTIP Nonsynonymous SNV R261H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 232847 chr19 35250451 35250451 C T rs200075847 ZNF599 Nonsynonymous SNV G419R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 232848 chr2 122519074 122519074 G T TSN Nonsynonymous SNV R116L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 232849 chr3 46620831 46620831 T C rs202030566 TDGF1 Synonymous SNV R50R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 232850 chr19 3548026 3548026 G A rs372718189 MFSD12 Synonymous SNV N210N 0 0 0 2 0 0 0.005 0 0 0 0 0 10.38 232851 chr2 129076063 129076063 C G rs370007456 HS6ST1 Synonymous SNV S25S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.27 232852 chr7 156756646 156756646 A G rs10267297 NOM1 Synonymous SNV T654T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 232853 chr2 74454178 74454178 C T rs756558917 SLC4A5 Nonsynonymous SNV R1015H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 232854 chr3 193272439 193272444 GTGCGT - ATP13A4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 232855 chr1 1139796 1139796 G A rs374537135 TNFRSF18 Synonymous SNV H127H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.324 232856 chr2 135749135 135749135 T C rs750106892 MAP3K19 Nonsynonymous SNV H84R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.821 232857 chr11 126135039 126135039 A C rs766669851 SRPRA Nonsynonymous SNV F419C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.7 232858 chr2 241685586 241685586 G C rs73102625 KIF1A Synonymous SNV S923S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.444 232859 chr2 241858294 241858294 G A CROCC2 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 232860 chr3 50214260 50214260 C T rs375227432 SEMA3F Synonymous SNV Y104Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 232861 chr2 97359422 97359422 T G rs61745438 FER1L5 Nonsynonymous SNV W1158G 0 0 0.01 2 0 0 0.005 3 0 0 0 0 0.856 232862 chr2 149519351 149519351 A G EPC2 Nonsynonymous SNV N223D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 232863 chr2 98263883 98263883 A G rs75630766 COX5B Nonsynonymous SNV N85S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.35 232864 chr2 98306727 98306727 A G rs17028771 C2orf92 Nonsynonymous SNV I114V 0 0 0.02 0 0 0 0 6 0 0 0 0 3.987 232865 chr2 98317665 98317665 A T rs17029878 C2orf92 Nonsynonymous SNV Q188L 0 0 0.017 0 0 0 0 5 0 0 0 0 5.212 232866 chr2 98319203 98319203 A - rs143227941 C2orf92 N248Ifs*12 0 0 0.017 0 0 0 0 5 0 0 0 0 232867 chr12 675126 675126 G A rs147647834 NINJ2 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.347 232868 chr12 987455 987455 G A rs752232272 WNK1 Synonymous SNV E766E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 232869 chr2 99907785 99907785 G A rs150060674 LYG1 Nonsynonymous SNV P83L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 232870 chr12 2760794 2760794 G A rs41276706 CACNA1C Nonsynonymous SNV D1334N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.82 232871 chr3 105243322 105243322 T C rs558809274 ALCAM Nonsynonymous SNV F122L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.24 232872 chr3 57310740 57310740 T C ASB14 Synonymous SNV L249L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.687 232873 chr3 58140624 58140624 G A rs143400214 FLNB Synonymous SNV S2223S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 14.19 232874 chr1 149903250 149903250 G C MTMR11 Nonsynonymous SNV R326G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 232875 chr2 170022537 170022537 C T rs77686710 LRP2 Nonsynonymous SNV R3888H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 232876 chr3 119962914 119962914 C G rs758592635 GPR156 Nonsynonymous SNV C11S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 232877 chr3 97669703 97669703 A G rs750869465 RIOX2 Nonsynonymous SNV I272T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 232878 chr3 122060397 122060397 G A rs200394711 CSTA Nonsynonymous SNV E94K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 232879 chr1 152692417 152692417 C T rs376518806 C1orf68 Synonymous SNV C140C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.044 232880 chr3 123453036 123453036 T - MYLK D94Mfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 232881 chr1 153932933 153932933 G A SLC39A1 Nonsynonymous SNV R206W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 232882 chr19 42912195 42912195 A C LIPE Nonsynonymous SNV I530S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.5 232883 chr2 47710049 47710049 T C rs55859129 MSH2 Synonymous SNV F922F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.1 232884 chr12 12247856 12247856 G A rs779419708 BCL2L14 Nonsynonymous SNV G313S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 232885 chr2 54131273 54131273 T C rs376278306 PSME4 Synonymous SNV Q988Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.019 232886 chr2 55155452 55155452 A T rs61910689 EML6 Synonymous SNV G1226G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.349 232887 chr2 65543978 65543978 C T rs201899929 SPRED2 Nonsynonymous SNV E157K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 232888 chr2 182786968 182786968 A G ITPRID2 Synonymous SNV T993T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.637 232889 chr19 44537053 44537053 G A rs141160266 ZNF222 Nonsynonymous SNV R449Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.772 232890 chr4 113353022 113353022 C T rs55964656 ALPK1 Synonymous SNV G695G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.1 232891 chr11 10508903 10508903 G T rs117706710 AMPD3 Nonsynonymous SNV V152L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 232892 chr11 12280068 12280068 C T rs765537821 MICAL2 Nonsynonymous SNV R819W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 232893 chr2 73680013 73680013 A G rs745919138 ALMS1 Nonsynonymous SNV K2119R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 232894 chr2 74058054 74058054 C T STAMBP Nonsynonymous SNV A24V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 232895 chr19 46345660 46345660 G A SYMPK Nonsynonymous SNV P312L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 232896 chr3 15115355 15115355 C T RBSN Synonymous SNV E763E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 232897 chr7 892547 892547 C T rs779110018 SUN1 Synonymous SNV D234D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.31 232898 chr4 153332876 153332876 T C rs1019191519 FBXW7 Nonsynonymous SNV Q27R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 232899 chr19 47920087 47920087 C T rs147730599 MEIS3 Nonsynonymous SNV E107K 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 26.3 232900 chr12 50745642 50745642 A G FAM186A Nonsynonymous SNV V1658A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 232901 chr19 49106961 49106961 G A rs754452296 FAM83E Synonymous SNV P322P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.907 232902 chr7 99247799 99247799 C - CYP3A5 G437Dfs*8 0.002 0 0 0 2 0 0 0 0 0 0 0 232903 chr11 32622355 32622355 A T rs142909545 EIF3M Nonsynonymous SNV D175V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 232904 chr3 107492381 107492381 A G rs775081033 BBX Nonsynonymous SNV T605A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 232905 chr3 180349320 180349320 C A rs1030308648 CCDC39 Synonymous SNV L645L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.68 232906 chr11 45265669 45265669 G A rs151134010 SYT13 Synonymous SNV S405S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.95 232907 chr11 46563795 46563795 T C rs151187650 AMBRA1 Nonsynonymous SNV Y591C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 232908 chr3 185367233 185367233 G C IGF2BP2 Synonymous SNV P411P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.664 232909 chr3 186954137 186954137 C T rs369388819 MASP1 Nonsynonymous SNV V508M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.8 232910 chr11 47644289 47644289 C A rs72909882 MTCH2 Synonymous SNV T254T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.3 232911 chr2 219525911 219525911 C T rs142540289 BCS1L Synonymous SNV L67L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.218 232912 chr19 51329149 51329149 C T KLK15 Stop gain W224X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 38 232913 chr8 123964081 123964081 G A rs142031452 ZHX2 Nonsynonymous SNV V111M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 232914 chr3 195597009 195597009 G A rs35759128 TNK2 Nonsynonymous SNV P531S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.601 232915 chr4 23815878 23815878 G T rs34514918 PPARGC1A Nonsynonymous SNV L283I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.71 232916 chr3 122864397 122864397 G A rs150501199 PDIA5 Synonymous SNV P313P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 232917 chr1 183849761 183849761 C T RGL1 Nonsynonymous SNV S144F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 232918 chr3 32995652 32995652 C T rs147951720 CCR4 Synonymous SNV A246A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 232919 chr1 186158691 186158691 G A rs755194738 HMCN1 Nonsynonymous SNV S5530N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 232920 chr3 37337613 37337613 G A rs137896398 GOLGA4 Synonymous SNV P239P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 232921 chr3 38674553 38674553 G T rs747643709 SCN5A Nonsynonymous SNV D82E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 232922 chr3 38912947 38912947 G A rs758235543 SCN11A Synonymous SNV L1250L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 232923 chr3 39374179 39374179 C T rs756282666 CCR8 Synonymous SNV S119S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 232924 chr3 40529556 40529556 C T rs773799014 ZNF619 Nonsynonymous SNV P475S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.352 232925 chr1 198505831 198505831 G A rs76330087 ATP6V1G3 Stop gain R36X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.174 232926 chr1 20005421 20005421 G C rs200365256 HTR6 Nonsynonymous SNV D295H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 232927 chr3 130285987 130285987 C G rs753437253 COL6A6 Nonsynonymous SNV A575G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 232928 chr3 432433 432433 A C rs141032064 CHL1 Synonymous SNV T840T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 232929 chr3 46449923 46449923 C T rs749278347 CCRL2 Nonsynonymous SNV T130I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 232930 chr3 46713032 46713032 C G rs146989129 ALS2CL Nonsynonymous SNV M909I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 232931 chr11 56237125 56237125 C A rs201079940 OR5M3 Nonsynonymous SNV L283F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.91 232932 chr8 144940957 144940957 C T rs202161343 EPPK1 Synonymous SNV A2155A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.06 232933 chr4 5733336 5733336 G T rs113002470 EVC Nonsynonymous SNV R190L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 33 232934 chr3 48559433 48559433 G A rs560145811 PFKFB4 Nonsynonymous SNV R411W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 232935 chr1 204970378 204970378 G A rs561269545 NFASC Nonsynonymous SNV G1034R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 232936 chr8 145535493 145535493 G A HSF1 Nonsynonymous SNV M277I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.49 232937 chr3 52360156 52360156 T C DNAH1 Nonsynonymous SNV V136A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.737 232938 chr8 145698287 145698287 G A rs766014611 KIFC2 Synonymous SNV Q657Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.06 232939 chr8 145737788 145737790 GTG - RECQL4 H1014del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 232940 chr3 169555273 169555273 G T rs200900869 LRRIQ4 Nonsynonymous SNV A513S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.66 232941 chr2 28785937 28785937 G A rs185327924 PLB1 Nonsynonymous SNV V404I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 232942 chr11 60703480 60703480 G A rs376877652 TMEM132A Nonsynonymous SNV G726R 0 0.005 0 0 0 2 0 0 0 0 0 0 15.67 232943 chr4 76522328 76522328 T C CDKL2 Synonymous SNV R371R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.218 232944 chr3 67546327 67546327 G A rs368002457 SUCLG2 Synonymous SNV I319I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 232945 chr19 5914970 5914970 G A rs375700493 CAPS Nonsynonymous SNV R94Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 232946 chr11 60781419 60781419 C T CD6 Synonymous SNV H440H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 232947 chr1 216420433 216420433 C T USH2A Nonsynonymous SNV C768Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 232948 chr5 3600128 3600128 G A rs754557120 IRX1 Nonsynonymous SNV A356T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 232949 chr8 2092745 2092745 C A MYOM2 Stop gain S1413X 0.002 0 0 0 2 0 0 0 0 0 0 0 51 232950 chr1 220310231 220310231 A G rs771124236 IARS2 Nonsynonymous SNV D676G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 232951 chr2 32656002 32656002 T G BIRC6 Nonsynonymous SNV F1031C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 232952 chr2 36668567 36668567 G A rs148742611 CRIM1 Synonymous SNV P224P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.79 232953 chr3 99514324 99514324 C T COL8A1 Nonsynonymous SNV P527S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 232954 chr2 42284509 42284509 G T rs142135371 PKDCC Synonymous SNV V457V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.983 232955 chr11 64034865 64034865 C T rs776004312 PLCB3 Nonsynonymous SNV A1114V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 232956 chr19 8982193 8982193 G T rs188781394 MUC16 Nonsynonymous SNV P14028T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.68 232957 chr8 37794355 37794355 A G rs369438333 GOT1L1 Nonsynonymous SNV C216R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 232958 chr1 228494606 228494606 G A rs192938081 OBSCN Synonymous SNV A3977A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.012 232959 chr1 228552736 228552736 C T OBSCN Nonsynonymous SNV P6299L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.173 232960 chr13 28143320 28143320 T G rs142333614 LNX2 Synonymous SNV L167L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.611 232961 chr13 28494281 28494281 C T rs146936598 PDX1 Synonymous SNV N2N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 18.07 232962 chr11 66294183 66294183 T G rs777838678 BBS1 Nonsynonymous SNV V415G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.832 232963 chr19 9059409 9059409 G A rs574413975 MUC16 Nonsynonymous SNV S9346F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.417 232964 chr4 126371044 126371044 G A rs961185884 FAT4 Nonsynonymous SNV R2960Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 232965 chr11 67191297 67191297 A G CARNS1 Nonsynonymous SNV Q570R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 232966 chr13 33741692 33741692 A G rs2296394 STARD13 Synonymous SNV Y71Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.046 232967 chr3 3209371 3209371 G A CRBN Nonsynonymous SNV P211S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 232968 chr3 32433539 32433539 G C rs780949461 CMTM7 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.209 232969 chr8 66651825 66651825 A G rs762819204 PDE7A Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.867 232970 chr5 11364881 11364881 A G CTNND2 Synonymous SNV P96P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.904 232971 chr4 141560566 141560566 C A rs368140121 TBC1D9 Nonsynonymous SNV R785L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 232972 chr8 70744856 70744856 G A rs61730155 SLCO5A1 Nonsynonymous SNV P18L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.002 232973 chr13 43358302 43358302 G A FAM216B Synonymous SNV K33K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.67 232974 chr4 151829932 151829932 G A LRBA Synonymous SNV L413L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.877 232975 chr11 70178158 70178158 G T PPFIA1 Nonsynonymous SNV E390D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 232976 chr2 75107424 75107424 G A rs368353026 HK2 Nonsynonymous SNV R433Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 232977 chr2 79313564 79313564 C T rs761296098 REG1B Nonsynonymous SNV V84M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 232978 chr2 85827019 85827019 A G TMEM150A Nonsynonymous SNV F131L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 232979 chr11 75776799 75776799 T C rs759965892 UVRAG Synonymous SNV Y424Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.153 232980 chr4 165878311 165878311 C T rs114687448 FAM218A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 232981 chr4 165878380 165878394 TCCAACAGCGGTCGC - rs145488590 FAM218A 0 0 0.003 0 0 0 0 1 0 0 0 0 232982 chr5 132197798 132197798 T C rs141440305 GDF9 Nonsynonymous SNV Y283C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 232983 chr2 9621442 9621442 T G rs151051276 IAH1 Nonsynonymous SNV L104R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 232984 chr1 245018897 245018897 A C HNRNPU Synonymous SNV R708R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.141 232985 chr5 136448202 136448202 A G SPOCK1 Synonymous SNV N132N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.998 232986 chr2 99804643 99804643 G A rs202061207 MRPL30 Nonsynonymous SNV V19M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.602 232987 chr5 138209474 138209474 T A rs953182037 LRRTM2 Nonsynonymous SNV D259V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 232988 chr4 1806162 1806162 C T rs747694886 FGFR3 Nonsynonymous SNV T394M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.4 232989 chr1 1148421 1148421 G T TNFRSF4 Stop gain C107X 0 0 0 1 0 0 0.003 0 0 0 0 0 33 232990 chr5 13902177 13902177 A C rs137878131 DNAH5 Nonsynonymous SNV L572W 0.007 0 0.003 0 8 0 0 1 0 0 0 0 Uncertain significance 27.7 232991 chr3 47286392 47286392 C T KIF9 Nonsynonymous SNV G468D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 232992 chr4 185724602 185724602 G T rs1054480669 ACSL1 Nonsynonymous SNV R23S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 232993 chr11 92715081 92715081 G A rs8192553 MTNR1B Nonsynonymous SNV R231H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.5 232994 chr13 103401291 103401291 C G rs750786583 CCDC168 Nonsynonymous SNV E586Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.06 232995 chr3 48465575 48465575 G T rs779841900 PLXNB1 Nonsynonymous SNV A149E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.825 232996 chr3 48712174 48712174 T C rs141045366 NCKIPSD Nonsynonymous SNV M658V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 232997 chr3 49053427 49053427 G A rs373458866 DALRD3 Nonsynonymous SNV H466Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 232998 chr3 49141340 49141340 A C QARS1 Nonsynonymous SNV C100G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 232999 chr3 52242249 52242249 T C rs376963140 ALAS1 Nonsynonymous SNV I439T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 233000 chr5 141019843 141019843 C T RELL2 Nonsynonymous SNV P287L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 233001 chr4 3526685 3526685 C T rs11549511 LRPAP1 Nonsynonymous SNV G100S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 233002 chr11 103191811 103191811 T C DYNC2H1 Nonsynonymous SNV Y3927H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 233003 chr4 37432292 37432292 G A rs184375612 NWD2 Synonymous SNV L152L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.87 233004 chr1 14149672 14149672 A G rs202013308 PRDM2 Nonsynonymous SNV N225S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.64 233005 chr1 29447886 29447886 A G rs199917380 TMEM200B Nonsynonymous SNV L152P 0.003 0 0 0 3 0 0 0 0 0 0 0 26 233006 chr5 135601994 135601994 G T rs766284820 TRPC7 Nonsynonymous SNV T304N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 20.9 233007 chr1 147131817 147131817 - CAGCTAG rs782265407 ACP6 Frameshift insertion G98Afs*17 0 0 0 1 0 0 0.003 0 0 0 0 0 233008 chr1 149880790 149880790 G A rs781828594 SV2A Nonsynonymous SNV R445C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 233009 chr4 436444 436444 C G ZNF721 Nonsynonymous SNV K604N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 233010 chr3 122145910 122145910 A G rs147574538 KPNA1 Synonymous SNV I513I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.786 233011 chr3 73453314 73453314 T C rs751116291 PDZRN3 Nonsynonymous SNV Y82C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 233012 chr4 56262558 56262558 G C TMEM165 Nonsynonymous SNV V68L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.684 233013 chr11 117647608 117647608 T C rs562436797 DSCAML1 Star tloss M137V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.98 233014 chr11 117869553 117869553 G A IL10RA Nonsynonymous SNV D312N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 233015 chr1 37337879 37337879 C T rs141315852 GRIK3 Synonymous SNV S214S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 233016 chr3 98251107 98251107 C - GPR15 S78Lfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 233017 chr1 154313456 154313456 G C rs772962965 ATP8B2 Nonsynonymous SNV E406D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 233018 chr5 140802201 140802201 T C PCDHGA11 Synonymous SNV G469G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.015 233019 chr14 23994130 23994130 C T rs374175851 ZFHX2 Nonsynonymous SNV R1674H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 233020 chr1 155025205 155025205 C T ADAM15 Nonsynonymous SNV P56L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.63 233021 chr1 39879530 39879530 C T rs779000788 KIAA0754 Nonsynonymous SNV P1198L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 233022 chr1 155257945 155257945 C T rs775700824 HCN3 Synonymous SNV P672P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 233023 chr11 120317731 120317731 G A rs138160103 ARHGEF12 Nonsynonymous SNV R490Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 233024 chr14 24879267 24879267 C T rs774825048 NYNRIN Nonsynonymous SNV P756L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 233025 chr14 24885509 24885509 G A NYNRIN Synonymous SNV K1518K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.44 233026 chr5 172096819 172096819 C T NEURL1B Synonymous SNV T21T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 233027 chr14 31872141 31872141 T C HEATR5A Nonsynonymous SNV Y14C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.295 233028 chr4 106924998 106924998 G A LOC101929577 0.001 0 0 0 1 0 0 0 0 0 0 0 0.211 233029 chr4 110603892 110603892 T A rs3733612 MCUB Synonymous SNV L202L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 233030 chr3 13364826 13364826 C G NUP210 Nonsynonymous SNV R1584T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 233031 chr4 7820873 7820873 C T rs746517292 AFAP1 Nonsynonymous SNV C251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 233032 chr5 179546443 179546443 G A rs758058828 RASGEF1C Synonymous SNV A270A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 233033 chr9 136555617 136555617 C T rs576697215 SARDH Nonsynonymous SNV V652M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 233034 chr5 180277445 180277445 A G rs545594795 ZFP62 Synonymous SNV S350S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 233035 chr9 138391622 138391622 C T rs759605833 C9orf116 Nonsynonymous SNV D26N 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 233036 chr4 88231480 88231480 C T rs141435392 HSD17B13 Nonsynonymous SNV V207I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 233037 chr11 132016193 132016193 G A rs773299029 NTM Nonsynonymous SNV R62Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26 233038 chr4 130032885 130032885 T G rs758719511 C4orf33 Nonsynonymous SNV L180R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 233039 chr11 133790149 133790149 C T IGSF9B Synonymous SNV A1157A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 233040 chr4 140262067 140262067 T C rs747601631 NAA15 Synonymous SNV C82C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 233041 chr5 168212965 168212965 C T rs138428716 SLIT3 Synonymous SNV K366K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 233042 chr9 139301708 139301708 A T rs201614946 ENTR1 Nonsynonymous SNV D163E 0.003 0.003 0 3 4 1 0.008 0 0 0 0 0 0.353 233043 chr3 150874054 150874054 A G MED12L Synonymous SNV P221P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.794 233044 chr4 148605073 148605073 G C rs368827182 PRMT9 Nonsynonymous SNV D22E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 233045 chr5 37294496 37294496 T C rs148603108 NUP155 Nonsynonymous SNV M1225V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 233046 chr5 37875527 37875527 G A rs996722025 GDNF-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.854 233047 chr14 65543292 65543292 T C MAX Nonsynonymous SNV S120G 0.002 0 0 0 2 0 0 0 0 0 0 0 11 233048 chr9 139847479 139847479 C T rs201611998 LCN12 Stop gain R84X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 233049 chr3 160804448 160804448 A G B3GALNT1 Nonsynonymous SNV V32A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 233050 chr14 72055388 72055388 T C SIPA1L1 Nonsynonymous SNV S267P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.926 233051 chr3 169485360 169485360 T C rs762343708 ACTRT3 Nonsynonymous SNV I327V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.287 233052 chr5 1212554 1212554 C T rs748579288 SLC6A19 Synonymous SNV S206S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.994 233053 chr1 65306948 65306948 T G rs565648053 JAK1 Synonymous SNV R877R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 233054 chr9 140417262 140417262 C T rs374189651 PNPLA7 Synonymous SNV P240P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.24 233055 chr3 172070667 172070667 C T rs746098174 FNDC3B Synonymous SNV P863P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.19 233056 chr5 126860550 126860550 G A rs147277611 PRRC1 Nonsynonymous SNV G144E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 233057 chr1 177899689 177899689 C A rs183770097 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV Q693H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 233058 chr4 173873255 173873255 A G rs75539306 GALNTL6 Nonsynonymous SNV E406G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 233059 chr9 20946728 20946728 G A rs148685443 FOCAD Nonsynonymous SNV C1195Y 0.003 0 0 0 4 0 0 0 0 0 0 0 27.4 233060 chr5 132202654 132202654 T C rs368396020 UQCRQ Synonymous SNV Y27Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.009 233061 chr1 84610146 84610146 T C PRKACB Synonymous SNV S34S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.321 233062 chr1 183105709 183105709 G A rs150421474 LAMC1 Nonsynonymous SNV A1435T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.66 233063 chr5 74444403 74444403 T C ANKRD31 Nonsynonymous SNV K635E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 233064 chr4 187070767 187070767 G C rs750194412 FAM149A Nonsynonymous SNV G233A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.195 233065 chr3 186917867 186917874 GGTTGGGC - LOC101929106 0.001 0 0 0 1 0 0 0 0 0 0 0 233066 chr3 186917876 186917876 C G LOC101929106 0.001 0 0 0 1 0 0 0 0 0 0 0 4.976 233067 chr4 187454849 187454849 G A rs531643260 MTNR1A Synonymous SNV S349S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.123 233068 chr4 187530344 187530344 C T rs775447002 FAT1 Nonsynonymous SNV R3400Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 233069 chr14 95572080 95572080 T C DICER1 Nonsynonymous SNV K1010E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 233070 chr6 26017453 26017453 T C H1-1 Nonsynonymous SNV K170E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 233071 chr5 140908385 140908385 G A rs777195456 DIAPH1 Nonsynonymous SNV R959C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 233072 chr12 21377774 21377774 G A rs200994482 SLCO1B1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 233073 chr4 2932963 2932965 CGA - MFSD10 V384del 0.001 0 0 0 1 0 0 0 0 0 0 0 233074 chr1 201180109 201180109 G T IGFN1 Nonsynonymous SNV D2030Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.854 233075 chr4 3502051 3502055 CATCC - rs974939458 DOK7 I395Rfs*139 0.001 0 0 0 1 0 0 0 0 0 0 0 233076 chr6 33543078 33543078 G C BAK1 Nonsynonymous SNV T116S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 233077 chr1 99387567 99387567 C T PLPPR5 Synonymous SNV K223K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 233078 chr14 105353123 105353123 G A rs754507829 CEP170B Synonymous SNV R779R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.135 233079 chr5 153144168 153144168 A G GRIA1 Synonymous SNV A586A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.037 233080 chr6 36983606 36983606 G A FGD2 Synonymous SNV V364V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 233081 chr6 111409207 111409207 G A rs145655903 SLC16A10 Synonymous SNV V84V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 15.08 233082 chr4 54930416 54930416 G A rs34128887 CHIC2 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 233083 chr4 5710115 5710115 G A rs781009014 EVC2 Synonymous SNV L42L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.72 233084 chr6 39283133 39283133 G T rs763012865 KCNK16 Nonsynonymous SNV P246T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 233085 chr5 167553867 167553867 G A rs974255013 TENM2 Nonsynonymous SNV R541H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 233086 chr5 167689698 167689698 C T rs373979082 TENM2 Synonymous SNV T2497T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.319 233087 chr5 169805858 169805858 G T KCNMB1 Nonsynonymous SNV N142K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.843 233088 chr5 171752304 171752304 G A rs778156008 SH3PXD2B Synonymous SNV H423H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.059 233089 chr12 52448555 52448555 C T rs201397879 NR4A1 Nonsynonymous SNV P148L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 233090 chr5 180056986 180056986 T C rs34117331 FLT4 Synonymous SNV G211G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.044 233091 chr6 46659544 46659544 T C TDRD6 Synonymous SNV L1227L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 233092 chr5 180057249 180057249 G A rs75516704 FLT4 Synonymous SNV P163P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.592 233093 chr20 30527019 30527019 G A rs116660552 TTLL9 Nonsynonymous SNV G300E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.226 233094 chr12 53045579 53045579 G A rs145263416 KRT2 Synonymous SNV G116G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.576 233095 chr20 31375045 31375045 C T rs745506485 DNMT3B Nonsynonymous SNV R72W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 233096 chr5 180622167 180622167 C G rs148602621 TRIM7 X330S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 233097 chr5 180626899 180626899 G C rs61737740 TRIM7 Nonsynonymous SNV S85R 0 0 0.003 0 0 0 0 1 0 0 0 0 18 233098 chr5 180627027 180627027 C T rs61743096 TRIM7 Nonsynonymous SNV A43T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 233099 chr5 180651184 180651184 A G rs73365903 TRIM41 Nonsynonymous SNV E62G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 233100 chr5 180665123 180665123 G A rs11540200 RACK1 Synonymous SNV A251A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 233101 chr6 145157498 145157498 G A rs367577548 UTRN Nonsynonymous SNV G3296S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.359 233102 chr1 225155191 225155191 C G rs775282606 DNAH14 Nonsynonymous SNV S136C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.8 233103 chrX 32717332 32717332 A G rs753509616 DMD Nonsynonymous SNV V235A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 24.6 233104 chr5 33546278 33546278 C T rs199556581 ADAMTS12 Synonymous SNV Q1359Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 233105 chr4 77979666 77979666 G A rs370598344 CCNI Synonymous SNV T65T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 233106 chr20 32664891 32664896 GCGGTG - rs377408088 RALY G226_G227del 0.001 0 0 0 1 0 0 0 0 0 0 0 233107 chr6 52762706 52762706 G A rs370835749 GSTA3 Nonsynonymous SNV R105W 0.002 0 0 0 2 0 0 0 0 0 0 0 23 233108 chr5 34008095 34008095 C T AMACR Synonymous SNV E10E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.739 233109 chr12 53454467 53454467 G A rs533324165 TNS2 Nonsynonymous SNV R936Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 233110 chr12 53679896 53679896 T C ESPL1 Nonsynonymous SNV S1126P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 233111 chrX 48544175 48544175 G A rs139265251 WAS Nonsynonymous SNV R138Q 0.003 0 0.007 9 4 0 0.023 2 2 0 1 4 Benign 9.73 233112 chr20 34060651 34060651 G T CEP250 Nonsynonymous SNV V402L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 233113 chr20 34220583 34220583 G A CPNE1 Synonymous SNV S55S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 233114 chr12 55039020 55039020 - T rs538180888 DCD Frameshift insertion A76Sfs*21 0 0.003 0 0 0 1 0 0 0 0 0 0 233115 chr20 36687803 36687803 A G RPRD1B Nonsynonymous SNV E179G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 233116 chr20 3675022 3675022 G A rs551720638 SIGLEC1 Synonymous SNV P1034P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.025 233117 chr4 84205738 84205738 - GCGGACAAACTGAGCTG COQ2 Frameshift insertion A61Sfs*67 0.001 0 0 0 1 0 0 0 0 0 0 0 233118 chr4 84240556 84240556 T C HPSE Nonsynonymous SNV Q147R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 233119 chr6 154411050 154411050 G C OPRM1 Nonsynonymous SNV S27T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 233120 chr5 473051 473051 G A rs751938284 PP7080 0 0 0.007 0 0 0 0 2 0 0 0 0 7.995 233121 chr20 37278413 37278413 G A ARHGAP40 Synonymous SNV L649L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 233122 chr6 157099519 157099519 C A ARID1B Synonymous SNV P152P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 233123 chr12 56625114 56625114 T C rs147572362 SLC39A5 Nonsynonymous SNV L19S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 12.14 233124 chr20 39980543 39980543 G A rs139441146 LPIN3 Synonymous SNV A396A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 233125 chr12 57577872 57577872 C T rs34398639 LRP1 Synonymous SNV N1978N 0 0.008 0 0 0 3 0 0 0 0 0 0 15.14 233126 chr6 90408644 90408644 G A rs938481921 MDN1 Synonymous SNV N3036N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.476 233127 chr5 60628342 60628342 G T rs553592342 ZSWIM6 Synonymous SNV A81A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.213 233128 chr20 44469833 44469833 C T rs769888676 SNX21 Nonsynonymous SNV R335C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 233129 chr5 68558068 68558068 G A rs759307878 CDK7 Synonymous SNV R131R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 233130 chr5 68805491 68805491 G T rs774350266 OCLN Nonsynonymous SNV V192F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 233131 chr6 16327913 16327915 TGA - rs751377396 ATXN1 H209del 0.003 0 0 3 4 0 0.008 0 0 0 0 0 233132 chr12 63544601 63544601 C T rs2228154 AVPR1A Nonsynonymous SNV G6S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.16 233133 chr5 71493377 71493377 C T rs776226079 MAP1B Nonsynonymous SNV R1273C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 233134 chr12 65268797 65268797 C G rs1037099728 TBC1D30 Synonymous SNV T391T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 233135 chr3 69336940 69336940 T C rs375330667 FRMD4B Nonsynonymous SNV E155G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 233136 chr15 72104373 72104373 C T rs776742417 NR2E3 Nonsynonymous SNV P143L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.675 233137 chr6 25727338 25727338 G A rs146343091 H2BC1 Nonsynonymous SNV V68I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.85 233138 chr20 58533810 58533810 - GCTGCTGCTGCTTCTAGT rs780283905 CDH26 L19_W20insLLVLLL 0.001 0 0 0 1 0 0 0 0 0 0 0 233139 chr5 132097169 132097169 C T rs778048728 SEPTIN8 Nonsynonymous SNV G315S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 233140 chr5 82940204 82940204 G A rs141242336 HAPLN1 Synonymous SNV F251F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.73 233141 chr6 2766020 2766020 A C WRNIP1 Nonsynonymous SNV H55P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.857 233142 chr5 89705983 89705985 AGA - rs544531981 LOC731157 0 0 0.01 0 0 0 0 3 0 0 0 0 233143 chr6 27833261 27833261 G A H2AC16 Synonymous SNV R43R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 233144 chr5 89986846 89986846 G A rs201009629 ADGRV1 Synonymous SNV P2313P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Uncertain significance 12.84 233145 chr5 140202161 140202161 T C PCDHA5 Synonymous SNV D267D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.869 233146 chr6 109080697 109080697 G A rs148250378 LINC00222 0 0 0.007 0 0 0 0 2 0 0 0 0 3.525 233147 chr20 62630980 62630980 C T rs41278234 PRPF6 Synonymous SNV L297L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.88 233148 chr20 861821 861821 G A rs62641666 ANGPT4 Nonsynonymous SNV P315L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 233149 chr1 27677290 27677290 C T rs115175073 SYTL1 Synonymous SNV S337S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12 233150 chr6 126211907 126211907 G A rs376913669 NCOA7 Nonsynonymous SNV G568S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 233151 chr12 120615504 120615504 G A rs141984580 GCN1 Nonsynonymous SNV P238S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 233152 chr5 149998269 149998269 G C rs558809889 SYNPO Nonsynonymous SNV G114R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 233153 chr12 123335398 123335398 C T rs151322438 HIP1R Nonsynonymous SNV A152V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 233154 chr12 123340138 123340138 A G rs149504879 HIP1R Nonsynonymous SNV N345S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 233155 chr12 123741524 123741524 G A C12orf65 Synonymous SNV L149L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.452 233156 chr12 124366351 124366351 C A DNAH10 Synonymous SNV A2820A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.206 233157 chr12 124887050 124887050 G A rs376621472 NCOR2 Nonsynonymous SNV R513C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 233158 chr6 151161707 151161707 A G rs545832518 PLEKHG1 Nonsynonymous SNV D1239G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 233159 chr12 130184483 130184483 G A rs755207617 TMEM132D Synonymous SNV S280S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.763 233160 chr7 888196 888196 A G rs114165930 SUN1 Nonsynonymous SNV H217R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 233161 chr12 132398898 132398898 C T rs758686407 ULK1 Nonsynonymous SNV R417W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 233162 chr7 2472730 2472730 G A rs61754096 CHST12 Synonymous SNV S152S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.74 233163 chr7 2987249 2987249 C A rs117016854 CARD11 Synonymous SNV V60V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.9 233164 chr6 74155261 74155261 G A rs372713930 CGAS Synonymous SNV N289N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.381 233165 chr10 48383890 48383890 C A RBP3 Synonymous SNV R1114R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 233166 chr6 76527355 76527355 A G rs775035511 MYO6 Nonsynonymous SNV I31V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 233167 chr16 2819118 2819118 - TCCTCC rs764161342 SRRM2 S2648_P2649insSS 0.001 0 0 0 1 0 0 0 0 0 0 0 233168 chr5 176812798 176812798 G A rs765766600 SLC34A1 Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.527 233169 chr10 60146023 60146023 T C TFAM Nonsynonymous SNV C49R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.846 233170 chr7 12420256 12420256 G A rs1001704421 VWDE Synonymous SNV P215P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.74 233171 chr7 14517801 14517801 T C DGKB Nonsynonymous SNV E589G 0.001 0 0 0 1 0 0 0 0 0 0 0 30 233172 chr13 32914814 32914814 C T rs55794205 BRCA2 Nonsynonymous SNV R2108C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 20.5 233173 chr6 24797806 24797806 A G ARMH2 Synonymous SNV C175C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.606 233174 chr17 10541680 10541680 G A rs12941197 MYH3 Nonsynonymous SNV R1137C 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 24 233175 chr17 11659916 11659916 C T rs141540643 DNAH9 Nonsynonymous SNV P2257L 0 0.005 0 0 0 2 0 0 0 0 0 0 29.3 233176 chr5 179393867 179393867 T C rs10060093 RNF130 Synonymous SNV S363S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 4.295 233177 chr22 21800629 21800629 G C HIC2 Nonsynonymous SNV G482A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 233178 chr10 72434674 72434674 C T rs140711390 ADAMTS14 Nonsynonymous SNV R149W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 233179 chr6 2854299 2854299 C T rs67030829 MIR4645 0 0 0.017 0 0 0 0 5 0 0 0 0 3.563 233180 chr5 19591344 19591344 T G rs565566548 CDH18 Nonsynonymous SNV Q274P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 233181 chr22 24034573 24034573 C T rs147860727 RGL4 Synonymous SNV Y77Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.139 233182 chr4 39839585 39839585 C T rs115575413 PDS5A Nonsynonymous SNV V1301M 0.002 0 0 0 2 0 0 0 0 0 0 0 6.572 233183 chr6 35473529 35473529 G A rs139648130 TULP1 Synonymous SNV I314I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 233184 chr10 73827480 73827480 G A rs760125050 SPOCK2 Synonymous SNV T200T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.731 233185 chr5 33649798 33649798 C T rs760997244 ADAMTS12 Nonsynonymous SNV G399S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 233186 chr6 36672063 36672063 - CGG rs765038305 RAB44 R20_Q21insR 0 0 0.003 0 0 0 0 1 0 0 0 0 233187 chr4 437293 437293 A G rs553150364 ZNF721 Synonymous SNV Y321Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 233188 chr5 35910624 35910624 G A rs75736388 CAPSL Synonymous SNV D53D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.33 233189 chr22 29915090 29915090 T C THOC5 Nonsynonymous SNV H465R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 233190 chr22 30864520 30864520 T G SEC14L3 Nonsynonymous SNV H133P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 233191 chr13 79939801 79939801 A G RBM26 Synonymous SNV T448T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.506 233192 chr6 42162409 42162409 G A rs142428974 GUCA1B Synonymous SNV D50D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.598 233193 chr16 28509008 28509008 G A rs369226323 APOBR Synonymous SNV T882T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.76 233194 chr6 43306966 43306983 CTTAGTCTCAGGGGCCCC - rs560879967 ZNF318 G1585_K1590del 0 0 0.007 0 0 0 0 2 0 0 0 0 233195 chr6 43323232 43323232 G A ZNF318 Nonsynonymous SNV R614C 0 0 0.003 0 0 0 0 1 0 0 0 0 30 233196 chr6 43400850 43400850 G A rs150124239 ABCC10 Nonsynonymous SNV G335R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.9 233197 chr1 84356134 84356134 T A rs190219125 TTLL7 Nonsynonymous SNV T720S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.02 233198 chr13 103394170 103394170 T A CCDC168 Nonsynonymous SNV E2959D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.049 233199 chr13 103514758 103514758 G A rs143667470 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R420H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.188 233200 chr5 54603898 54603898 T G rs16884049 MTREX Synonymous SNV T19T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.797 233201 chr7 103801562 103801562 G A rs368883549 ORC5 Synonymous SNV I369I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 233202 chr4 7062796 7062796 G A rs144375092 GRPEL1 Synonymous SNV V149V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.455 233203 chr17 34199372 34199372 C A rs761396978 CCL5 Nonsynonymous SNV V123F 0 0.005 0 0 0 2 0 0 0 0 0 0 14.59 233204 chr13 111102698 111102698 C T rs200132987 COL4A2 Synonymous SNV I412I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.5 233205 chr16 31473304 31473304 G A rs368904562 ARMC5 Synonymous SNV G179G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 6.671 233206 chr5 61714879 61714879 T C rs191585136 IPO11 Synonymous SNV Y13Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 233207 chr5 64913953 64913953 G A rs771639235 TRIM23 Nonsynonymous SNV R71C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 233208 chr22 39123310 39123310 C T rs771976065 GTPBP1 Synonymous SNV V498V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.54 233209 chr16 50348314 50348314 G A rs199665164 ADCY7 Nonsynonymous SNV V990I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 233210 chr7 117120175 117120175 C T CFTR Synonymous SNV A9A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 233211 chr7 121698951 121698953 AAG - PTPRZ1 E1344del 0.001 0 0 0 1 0 0 0 0 0 0 0 233212 chr17 38251914 38251914 T G rs145435357 NR1D1 Nonsynonymous SNV N344T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.4 233213 chr6 71104670 71104670 G A rs6936550 EVADR 0 0 0.007 0 0 0 0 2 0 0 1 0 5.413 233214 chr22 44495932 44495934 GAG - rs748653684 PARVB E31Gfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 233215 chr6 75828814 75828814 C A rs35551395 COL12A1 Synonymous SNV T1269T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.17 233216 chr6 75839819 75839819 T G rs34619869 COL12A1 Synonymous SNV P902P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.483 233217 chr6 90365556 90365556 C T MDN1 Synonymous SNV Q5139Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 233218 chr17 39596785 39596785 G A rs753649036 KRT38 Nonsynonymous SNV A130V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.2 233219 chr16 72828431 72828431 C T ZFHX3 Nonsynonymous SNV R1803K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 233220 chr16 72831030 72831030 G T ZFHX3 Nonsynonymous SNV P937T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 233221 chr22 50716058 50716058 T C PLXNB2 Nonsynonymous SNV M1720V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 233222 chr22 50942805 50942805 C T rs149509833 LMF2 Nonsynonymous SNV R536H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.2 233223 chr14 23855609 23855609 T C rs776765616 MYH6 Nonsynonymous SNV N1625S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 23.8 233224 chr14 24572929 24572929 G A rs144284959 PCK2 Nonsynonymous SNV R426Q 0.002 0.003 0.007 3 2 1 0.008 2 0 0 0 0 Uncertain significance 29.2 233225 chr17 40821454 40821454 G A rs755991194 PLEKHH3 Synonymous SNV S733S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.42 233226 chr14 24624374 24624374 C T rs773511210 RNF31 Synonymous SNV A562A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.76 233227 chr7 140373540 140373540 C T rs61737092 ADCK2 Nonsynonymous SNV A137V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 233228 chr5 108714598 108714598 A G PJA2 Nonsynonymous SNV L197S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.23 233229 chr6 100395721 100395721 C T rs138925190 MCHR2 Synonymous SNV G103G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.865 233230 chr6 10410148 10410148 T C rs751678511 TFAP2A Nonsynonymous SNV I150V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 233231 chr14 35074822 35074822 C T rs201641876 SNX6 Synonymous SNV K87K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.03 233232 chr11 118963174 118963174 C T HMBS Synonymous SNV L238L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.05 233233 chr11 119029283 119029283 G A rs149710791 ABCG4 Nonsynonymous SNV R395Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 233234 chr2 112751921 112751921 G A rs148833587 MERTK Nonsynonymous SNV V464I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.014 233235 chr17 46620727 46620727 C G rs756529478 HOXB2 Synonymous SNV A258A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.15 233236 chr6 110679201 110679201 G C rs555527864 METTL24 Nonsynonymous SNV P92R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.2 233237 chr17 48072232 48072232 C T DLX3 Nonsynonymous SNV S44N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 233238 chr14 51192740 51192740 T C NIN Nonsynonymous SNV I1328M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.87 233239 chr2 11802128 11802128 C T rs577111587 NTSR2 Nonsynonymous SNV R288Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 233240 chr2 118582611 118582611 T C rs61732821 DDX18 Synonymous SNV S434S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.409 233241 chr2 118587032 118587032 C T rs34228045 DDX18 Synonymous SNV F620F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.43 233242 chr2 118735600 118735600 A G rs35236047 CCDC93 Synonymous SNV Y209Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 233243 chr2 118864756 118864756 A G rs17047763 INSIG2 Synonymous SNV Q101Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 2.134 233244 chr7 150644920 150644920 C T rs776097223 KCNH2 Synonymous SNV A573A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.3 233245 chr2 128050307 128050307 T C rs1805161 ERCC3 Nonsynonymous SNV K117R 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 10.75 233246 chr2 128341757 128341757 C T MYO7B Synonymous SNV H468H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 233247 chr7 157178290 157178290 T G DNAJB6 Nonsynonymous SNV S226A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 233248 chr7 102669067 102669067 T A rs777182810 FBXL13 Nonsynonymous SNV D66V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 233249 chr7 158486086 158486086 A G rs187542564 NCAPG2 Nonsynonymous SNV V61A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.621 233250 chr14 62462858 62462858 A C rs199691174 SYT16 Nonsynonymous SNV N41H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.077 233251 chr2 137990645 137990645 A G THSD7B Nonsynonymous SNV I698V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 233252 chr5 140588480 140588480 A G rs782328795 PCDHB12 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 233253 chr6 132910778 132910778 G A rs147135761 TAAR5 Synonymous SNV F16F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.476 233254 chr6 13711696 13711696 - TGC rs756019328 RANBP9 Q18_L19insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 233255 chr6 137245735 137245735 G C rs200380943 SLC35D3 Synonymous SNV S384S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 233256 chr17 1840388 1840388 G A rs187193472 RTN4RL1 Nonsynonymous SNV P243L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.562 233257 chr7 27135311 27135316 TGGCGA - rs767586523 HOXA1 R73_H74del 0.001 0 0 0 1 0 0 0 0 0 0 0 233258 chr7 27135322 27135322 G A rs199620262 HOXA1 Synonymous SNV H70H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.233 233259 chr2 15415892 15415892 A G rs141034921 NBAS Synonymous SNV L1814L 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 7.389 233260 chr11 129724560 129724560 G A rs373324042 TMEM45B Synonymous SNV E78E 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.774 233261 chr14 69259681 69259681 C T rs139683444 ZFP36L1 Nonsynonymous SNV R61H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.17 233262 chr14 73425503 73425503 C T rs372573738 DCAF4 Nonsynonymous SNV S433F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 233263 chr7 141537834 141537834 C T rs546310407 PRSS37 Nonsynonymous SNV V86I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 233264 chr7 31124446 31124446 T G rs746811640 ADCYAP1R1 Nonsynonymous SNV F157C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 233265 chr11 16838596 16838596 C T rs199887803 PLEKHA7 Synonymous SNV A539A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.759 233266 chr6 152651051 152651051 T C rs141057568 SYNE1 Synonymous SNV E4852E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.571 233267 chr7 143175776 143175776 G A rs201939849 TAS2R41 Nonsynonymous SNV A271T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 233268 chr6 152738131 152738131 T C rs557081125 SYNE1 Nonsynonymous SNV E1821G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.56 233269 chr17 4799305 4799305 C T rs374714718 MINK1 Synonymous SNV Y1087Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.07 233270 chr11 18054853 18054853 T A rs184973363 TPH1 Nonsynonymous SNV M124L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 233271 chr7 149500151 149500151 C T rs759746049 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 7.084 233272 chr14 78174190 78174190 C T rs532582760 ALKBH1 Nonsynonymous SNV R53H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.09 233273 chr2 176866914 176866914 C T rs745956591 LNPK Synonymous SNV P35P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.67 233274 chr7 150324811 150324811 A G GIMAP6 Nonsynonymous SNV L362P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 233275 chr7 144101658 144101658 G C NOBOX Synonymous SNV T67T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 233276 chr6 159672342 159672342 G A rs777702412 FNDC1 Nonsynonymous SNV V1615M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 233277 chr7 150647235 150647235 - GGGGGGGGGGGGGGGGGGGGGGGGGGGGG KCNH2 Frameshift insertion T467Pfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 233278 chr7 150934565 150934565 C T rs150038258 CHPF2 Synonymous SNV L373L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.549 233279 chr20 61288446 61288446 G A rs184112176 SLCO4A1 Nonsynonymous SNV A214T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.003 233280 chr2 179644006 179644006 C A rs199889888 TTN Nonsynonymous SNV G1259W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 233281 chr14 92347724 92347724 G T rs377360782 FBLN5 Nonsynonymous SNV L301M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.85 233282 chr6 165712941 165712941 T C rs778798590 C6orf118 Synonymous SNV A309A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.104 233283 chr20 61951391 61951391 G A rs555823823 COL20A1 Nonsynonymous SNV V973M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 233284 chr14 94505330 94505330 G A rs34574381 OTUB2 Nonsynonymous SNV A41T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.92 233285 chr20 62839534 62839534 C T rs757146104 MYT1 Nonsynonymous SNV R329W 0 0 0.003 2 0 0 0.005 1 0 0 0 0 26.2 233286 chr14 95058508 95058508 A C SERPINA5 Nonsynonymous SNV N385H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 233287 chr2 187605045 187605045 C T rs149594249 FAM171B Nonsynonymous SNV T110M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 233288 chr14 99865109 99865109 C T SETD3 Synonymous SNV R564R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.06 233289 chr7 26578192 26578192 C T rs763658667 KIAA0087, LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 6.836 233290 chr7 6185865 6185865 G T USP42 Synonymous SNV V406V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.792 233291 chr7 27182747 27182747 C G HOXA5 Synonymous SNV A160A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 233292 chr2 197066067 197066067 G C HECW2 Synonymous SNV S1195S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.874 233293 chr21 30949413 30949413 C T rs142518822 GRIK1 Synonymous SNV T528T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.4 233294 chr14 103188750 103188750 C G rs767226955 RCOR1 Nonsynonymous SNV D472E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.56 233295 chr6 26104484 26104484 C G H4C3 Synonymous SNV G103G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.196 233296 chr14 103438335 103438335 T C rs776505275 CDC42BPB Nonsynonymous SNV E602G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 233297 chr17 12639599 12639599 G A rs79512286 MYOCD Synonymous SNV P179P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 7.187 233298 chr7 30638451 30638451 C G rs201728920 GARS Nonsynonymous SNV Q34E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.25 233299 chr7 30795096 30795096 T A INMT Nonsynonymous SNV C140S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 233300 chr2 201728858 201728858 C T rs140874256 CLK1 Nonsynonymous SNV R31H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 233301 chr7 6692856 6692856 C T ZNF316 Synonymous SNV G543G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 233302 chr5 36208748 36208750 CTT - NADK2 R138del 0.001 0 0 0 1 0 0 0 0 0 0 0 233303 chr14 105404855 105404855 G A rs184901284 AHNAK2 Nonsynonymous SNV L5545F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.66 233304 chr7 42012130 42012130 G A rs371617666 GLI3 Nonsynonymous SNV H637Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 233305 chr7 44157316 44157316 C T rs151209101 POLD2 Nonsynonymous SNV R123Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 233306 chr17 26655726 26655726 T C rs782096680 IFT20 Synonymous SNV V117V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.328 233307 chr7 45932563 45932563 A T rs117054298 IGFBP1 Nonsynonymous SNV E218V 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 233308 chr2 211539682 211539682 C G CPS1 Nonsynonymous SNV F1386L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 233309 chr2 21231513 21231513 G C rs777302365 APOB Nonsynonymous SNV L2743V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 233310 chr17 27052357 27052357 G C rs200322353 TLCD1 Nonsynonymous SNV R62G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.51 233311 chr7 91771779 91771779 G A rs1003469767 CYP51A1-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.807 233312 chr2 216300472 216300472 C G rs149268490 FN1 Synonymous SNV G18G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 10.96 233313 chr7 4845298 4845298 T C RADIL Nonsynonymous SNV Q730R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.3 233314 chr7 98997979 98997979 T C rs372764083 PDAP1 Synonymous SNV K94K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.505 233315 chr7 99091823 99091823 T C ZNF394 Nonsynonymous SNV S339G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 233316 chr7 5399066 5399066 C A rs1047849345 TNRC18 Nonsynonymous SNV W1599L 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 233317 chr6 42989414 42989425 GCCGGGGCCGGG - rs761824164 RRP36 G13_A16del 0.001 0 0 0 1 0 0 0 0 0 0 0 233318 chr7 99661928 99661928 C T rs369446597 ZSCAN21 Nonsynonymous SNV A336V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 233319 chr6 43014656 43014656 G A rs140769382 CUL7 Nonsynonymous SNV R871C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 233320 chr2 219824989 219824989 C A CDK5R2 Synonymous SNV G149G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 233321 chr6 43183955 43183955 C G rs775813149 CUL9 Nonsynonymous SNV P1999R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 233322 chr6 43418547 43418547 C T DLK2 Synonymous SNV V257V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 233323 chr6 43571704 43571704 G C rs775915240 POLH Nonsynonymous SNV Q156H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 233324 chr8 102589725 102589725 G A rs368774126 GRHL2 Synonymous SNV A311A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.235 233325 chr8 103323641 103323641 A G rs367672960 UBR5 Synonymous SNV D834D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.707 233326 chr8 36721956 36721956 G A rs747446576 KCNU1 Synonymous SNV K642K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.793 233327 chr7 76021308 76021308 G A rs139442730 SSC4D Nonsynonymous SNV R462W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.7 233328 chr7 86468750 86468750 C T rs17161027 GRM3 Synonymous SNV I640I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 9.54 233329 chr2 227660154 227660154 A G rs747491337 IRS1 Nonsynonymous SNV S1101P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 233330 chr6 55266589 55266589 A G rs768259426 GFRAL Nonsynonymous SNV T375A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.349 233331 chr15 48818413 48818413 C A rs142888621 FBN1 Nonsynonymous SNV G301V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.21 233332 chr6 56919367 56919367 A G rs769584994 KIAA1586 Nonsynonymous SNV I663M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.2 233333 chr8 87241909 87241909 C T rs772733947 SLC7A13 Nonsynonymous SNV E200K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 233334 chr6 64431417 64431417 A G rs751610535 EYS Nonsynonymous SNV I2837T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.573 233335 chr7 95221351 95221351 A T rs749173253 PDK4 Nonsynonymous SNV C215S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 233336 chr15 58471342 58471342 A C rs754639376 AQP9 Nonsynonymous SNV I106L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.064 233337 chr2 238249780 238249780 G A rs144249704 COL6A3 Synonymous SNV I1986I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.14 233338 chr15 62942342 62942342 G A rs140857185 TLN2 Nonsynonymous SNV A66T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 233339 chr15 62942343 62942343 C A rs143610133 TLN2 Nonsynonymous SNV A66E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 233340 chr8 10467086 10467086 A T rs375158974 RP1L1 Nonsynonymous SNV C1508S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 233341 chr8 10469071 10469071 C A rs752603161 RP1L1 Nonsynonymous SNV S846I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.384 233342 chr6 90604777 90604777 C T rs201885767 GJA10 Nonsynonymous SNV A197V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.57 233343 chr8 11606580 11606580 C T rs368091578 GATA4 Nonsynonymous SNV P258S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 233344 chr6 123824837 123824837 C T rs189106156 TRDN Nonsynonymous SNV G274R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.29 233345 chr8 12878671 12878671 C T rs34057798 TRMT9B Synonymous SNV N35N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.871 233346 chr15 72338438 72338438 T C rs190194477 MYO9A Nonsynonymous SNV D156G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 233347 chr8 130765029 130765029 C T rs79763318 GSDMC Synonymous SNV A253A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.47 233348 chr8 130789674 130789674 C T rs35919954 GSDMC Nonsynonymous SNV D54N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 233349 chr8 133925497 133925497 C T rs57453794 TG Synonymous SNV D1455D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.86 233350 chr17 49825110 49825110 G A rs746658958 CA10 Synonymous SNV N116N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.087 233351 chr17 53798315 53798315 C G TMEM100 Nonsynonymous SNV E39D 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 233352 chr8 143746035 143746035 C T rs374056562 JRK Nonsynonymous SNV E481K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 233353 chr11 58892376 58892376 - A rs762510876 FAM111B Frameshift insertion A243Sfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 233354 chr11 58920536 58920536 T C rs780052713 FAM111A Synonymous SNV L465L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.361 233355 chr8 144406174 144406174 C T rs143769145 TOP1MT Nonsynonymous SNV D221N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26 233356 chr6 151151895 151151895 C A rs150050788 PLEKHG1 Nonsynonymous SNV Q511K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 233357 chr8 144680952 144680952 C T rs200439426 TIGD5 Synonymous SNV V293V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 233358 chr8 144733414 144733415 CC - ZNF623 P458Lfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 233359 chr8 18257609 18257609 C T rs750811489 NAT2 Synonymous SNV I32I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 233360 chr22 43204883 43204883 G A rs150358440 ARFGAP3 Nonsynonymous SNV R360C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 233361 chr22 43460304 43460304 G A rs773683360 TTLL1 Nonsynonymous SNV A177V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 233362 chr22 43520091 43520091 C T rs780165379 BIK Synonymous SNV L21L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 8.378 233363 chr2 45767 45767 G C rs756027611 FAM110C Nonsynonymous SNV R207G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 233364 chr8 144997578 144997578 G C rs782289515 PLEC Nonsynonymous SNV F2159L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 233365 chr15 85400995 85400995 G C ALPK3 Nonsynonymous SNV R1009P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 233366 chr9 214453 214453 - T rs900156336 DOCK8-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 233367 chr6 154731503 154731503 G A rs139168826 CNKSR3 Nonsynonymous SNV A273V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 233368 chr2 48132691 48132699 GCTGCTGCT - rs1038500469 FBXO11 Q54_Q56del 0.001 0 0 0 1 0 0 0 0 0 0 0 233369 chr2 48845016 48845016 G A GTF2A1L Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 233370 chr9 2192727 2192727 G A rs146702999 SMARCA2 Synonymous SNV T245T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign/Likely benign 11.59 233371 chr7 107703333 107703333 G A rs142621710 LAMB4 Synonymous SNV V1056V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 1.791 233372 chr22 46929892 46929892 A G CELSR1 Nonsynonymous SNV M1059T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.57 233373 chr22 46931457 46931457 C T rs374986132 CELSR1 Synonymous SNV Q537Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.109 233374 chr8 145738483 145738483 G A rs751755789 RECQL4 Synonymous SNV A834A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.027 233375 chr15 89385003 89385003 A G rs746056428 ACAN Nonsynonymous SNV Y221C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 233376 chr2 61711211 61711211 C T rs13385575 XPO1 Synonymous SNV T846T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 16.89 233377 chr8 25346073 25346073 G C rs117565806 CDCA2 Nonsynonymous SNV L498F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 233378 chr7 122338104 122338104 T C rs141599691 RNF133 Nonsynonymous SNV H290R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.217 233379 chr22 50900410 50900410 G A rs576829341 SBF1 Synonymous SNV S846S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.041 233380 chr15 90611388 90611388 C T rs776439547 ZNF710 Nonsynonymous SNV T340M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 233381 chr15 90766863 90766863 C T rs370045975 SEMA4B Nonsynonymous SNV R156W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 233382 chr15 90785289 90785289 A G rs144486644 GDPGP1 Synonymous SNV E383E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.995 233383 chr2 71896835 71896835 G A rs115013641 DYSF Nonsynonymous SNV D1862N 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign/Likely benign 26.2 233384 chr2 73052998 73052998 T G rs748214828 EXOC6B Synonymous SNV T14T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 233385 chr17 74621483 74621483 G A rs867272064 ST6GALNAC1 Nonsynonymous SNV R578W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 233386 chr7 128865070 128865070 G C AHCYL2 Nonsynonymous SNV E51D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 233387 chr7 129821552 129821552 T C rs117369236 TMEM209 Nonsynonymous SNV N344S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.08 233388 chr17 76046849 76046849 C T rs200406635 TNRC6C Nonsynonymous SNV P569L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 233389 chr11 65168286 65168286 G T rs772945431 FRMD8 Nonsynonymous SNV G284V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 233390 chr2 80782858 80782858 C T CTNNA2 Synonymous SNV A206A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 233391 chr2 84846931 84846931 T G rs557920996 DNAH6 Nonsynonymous SNV M1232R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 233392 chr8 26623625 26623625 C T ADRA1A Synonymous SNV E437E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.448 233393 chr2 86075102 86075102 C T rs373571836 ST3GAL5 Nonsynonymous SNV D54N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.58 233394 chr8 55539478 55539478 G C rs373971446 RP1 Synonymous SNV L1012L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.833 233395 chr8 55539482 55539482 G C rs200186332 RP1 Nonsynonymous SNV D1014H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 233396 chr8 61764609 61764609 C G rs528130317 CHD7 Synonymous SNV G1899G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 233397 chr11 66610488 66610488 C T C11orf80 Nonsynonymous SNV A473V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 233398 chr9 74671756 74671756 A G rs200976346 C9orf57 Nonsynonymous SNV L6P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 233399 chr8 35541235 35541235 T C UNC5D Synonymous SNV V242V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.308 233400 chr8 38173457 38173457 G A rs764548951 NSD3 Synonymous SNV S653S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 233401 chr11 67287377 67287377 C T CABP2 Nonsynonymous SNV G181D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 233402 chr16 747322 747322 G A rs372597497 FBXL16 Synonymous SNV N28N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 2.361 233403 chr8 56699251 56699251 C T rs61754800 TGS1 Nonsynonymous SNV S172L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.07 233404 chr9 90321673 90321673 G T rs376368602 DAPK1 Synonymous SNV G1229G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 233405 chr9 93606315 93606315 C T rs201774526 SYK Synonymous SNV R45R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 233406 chr6 36695446 36695446 G A rs562296224 RAB44 Nonsynonymous SNV R925H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 233407 chr6 37250668 37250668 G A TBC1D22B Synonymous SNV R204R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.01 233408 chr8 68028252 68028252 C G rs146431326 CSPP1 Nonsynonymous SNV S165C 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign/Likely benign 26.3 233409 chr8 68071241 68071243 GAA - rs773946059 CSPP1 E454del 0 0 0.003 0 0 0 0 1 0 0 0 0 233410 chr17 80680732 80680732 C T rs146131242 FN3KRP Synonymous SNV D146D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.69 233411 chr2 138373879 138373879 T A rs148820327 THSD7B Nonsynonymous SNV N1186K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 233412 chr3 113077688 113077688 A G CFAP44 Nonsynonymous SNV M990T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.937 233413 chr7 155592840 155592840 A G rs922444647 SHH Nonsynonymous SNV V134A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.344 233414 chr7 155755754 155755754 C T rs563891858 LOC389602 Synonymous SNV S77S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.329 233415 chr7 156967643 156967643 A G rs150362446 UBE3C Nonsynonymous SNV S125G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 233416 chr16 2549882 2549882 T C rs776176742 TBC1D24 Nonsynonymous SNV F412S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.162 233417 chr9 104133486 104133486 T A BAAT Synonymous SNV G67G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.171 233418 chr9 111688822 111688822 A G rs775602185 ELP1 Synonymous SNV H35H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.293 233419 chr8 99040034 99040034 G A MATN2 Stop gain W737X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 233420 chr16 3647422 3647422 C T rs200497436 SLX4 Synonymous SNV T547T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.14 233421 chr9 113704074 113704074 C T rs773510551 LPAR1 Synonymous SNV L140L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.864 233422 chr11 86157403 86157403 C G ME3 Nonsynonymous SNV G503R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.8 233423 chr3 124567186 124567186 G A rs146524690 ITGB5 Nonsynonymous SNV A86V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 233424 chr9 117072849 117072849 T A COL27A1 Nonsynonymous SNV H1819Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21 233425 chr6 5085788 5085788 G A rs996695453 PPP1R3G Synonymous SNV P23P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 233426 chr7 30962218 30962218 T A AQP1 Nonsynonymous SNV F197I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 233427 chr11 95825384 95825386 TGC - MAML2 Q621del 0.001 0 0 0 1 0 0 0 0 0 0 0 233428 chr18 43418758 43418758 G A SIGLEC15 Nonsynonymous SNV G191E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 233429 chr16 19603133 19603133 A G rs200709240 VPS35L Nonsynonymous SNV T221A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.31 233430 chr7 3991529 3991529 C G SDK1 Nonsynonymous SNV A376G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 233431 chr3 132360829 132360829 T C ACAD11 Nonsynonymous SNV Y175C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 233432 chr7 4002385 4002385 G A rs375595635 SDK1 Nonsynonymous SNV R444H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 233433 chr9 125145985 125145985 C G rs145581212 PTGS1 Synonymous SNV P272P 0 0 0.01 0 0 0 0 3 0 0 0 0 11.44 233434 chr6 7574938 7574938 C T rs139071827 DSP Synonymous SNV D782D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.18 233435 chr9 129856136 129856136 G A rs574838038 ANGPTL2 Nonsynonymous SNV P296L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 233436 chr9 125627864 125627864 G C rs749091485 RC3H2 Nonsynonymous SNV N466K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 233437 chr9 130705503 130705503 C T rs145965684 FAM102A Nonsynonymous SNV V233I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.7 233438 chr9 130911830 130911830 G T rs147787222 LCN2 Nonsynonymous SNV G9V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 20.7 233439 chr7 45717648 45717648 G A rs147187783 ADCY1 Nonsynonymous SNV E596K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.1 233440 chr16 29853236 29853236 C T rs145249252 MVP Synonymous SNV R479R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.55 233441 chr2 189599221 189599221 C T rs568793323 DIRC1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.872 233442 chr2 189599386 189599386 A C rs147413407 DIRC1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 233443 chr6 91254277 91254277 T C rs748938590 MAP3K7 Nonsynonymous SNV I429V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.29 233444 chr16 30793609 30793609 A G ZNF629 Synonymous SNV H680H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.012 233445 chr7 48352818 48352818 A G rs771243635 ABCA13 Nonsynonymous SNV D3224G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.752 233446 chr3 151012541 151012541 C T rs114483579 GPR87 Nonsynonymous SNV V165I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 233447 chr7 48427508 48427508 T C rs778793934 ABCA13 Nonsynonymous SNV F3809L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 233448 chr7 48451972 48451972 A T rs74448198 ABCA13 Nonsynonymous SNV D4084V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 233449 chr3 151474873 151474873 C T rs77715518 AADACL2 Stop gain R233X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 233450 chr3 152880935 152880935 C T rs138892831 RAP2B Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 233451 chr3 164735764 164735764 C G SI Nonsynonymous SNV A1172P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 233452 chr9 137777163 137777163 G A rs575801515 FCN2 Nonsynonymous SNV R89Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 233453 chr3 178916781 178916781 C G PIK3CA Stop gain Y56X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 233454 chr12 122966097 122966097 A G ZCCHC8 Synonymous SNV N253N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.16 233455 chr12 12301951 12301951 T A rs775619699 LRP6 Nonsynonymous SNV D1044V 0.001 0 0 0 1 0 0 0 0 0 0 0 29 233456 chr12 123482030 123482030 G A rs139851645 PITPNM2 Synonymous SNV G438G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 233457 chr16 58559256 58559256 T C rs149535222 CNOT1 Nonsynonymous SNV N2199S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.3 233458 chr9 137741203 137741203 - ATCACACCTCCCAGGAACCACGAG MIR3689C 0 0 0.003 0 0 0 0 1 0 0 0 0 233459 chr9 139617893 139617893 C T rs373548863 DIPK1B Synonymous SNV P321P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 233460 chr9 138395903 138395903 G A rs111392067 MRPS2 Nonsynonymous SNV R272H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 233461 chr9 138516381 138516381 C T rs374809649 GLT6D1 Synonymous SNV T131T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 233462 chr7 7613289 7613289 C T rs776980828 MIOS Nonsynonymous SNV R395C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 233463 chr9 138683677 138683677 C T rs149927148 KCNT1 Synonymous SNV Y1155Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.134 233464 chr9 139734856 139734856 G A rs201833067 RABL6 Nonsynonymous SNV R692Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 233465 chr16 67578316 67578316 C G RIPOR1 Nonsynonymous SNV H909Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 233466 chr3 184429557 184429557 - C rs544302047 MAGEF1 Frameshift insertion E18Gfs*7 0.001 0 0 1 1 0 0.003 0 0 0 0 0 233467 chr7 80091602 80091602 C A rs367567711 GNAT3 Synonymous SNV L249L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.81 233468 chr19 1226537 1226537 C T rs768058962 STK11 Nonsynonymous SNV A398V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.82 233469 chr2 219206778 219206778 A G PNKD Nonsynonymous SNV Q207R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 233470 chr19 3053952 3053952 C T rs772506069 TLE5 Synonymous SNV S153S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 233471 chr16 72139421 72139421 A G rs754843567 DHX38 Synonymous SNV P795P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.706 233472 chr7 103138555 103138555 C T rs754156411 RELN Nonsynonymous SNV V2938I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 233473 chr3 194338398 194338398 G A rs373287099 TMEM44 Synonymous SNV A240A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.764 233474 chr9 15920268 15920268 G T rs199759185 CCDC171 Nonsynonymous SNV A1209S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.995 233475 chr7 99436401 99436401 G C CYP3A43 Synonymous SNV S89S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 233476 chr10 7290523 7290523 G A rs755947896 SFMBT2 Nonsynonymous SNV A320V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 233477 chr9 21305100 21305100 G A rs568144733 IFNA5 Synonymous SNV C52C 0 0 0.007 0 0 0 0 2 0 0 0 0 0.401 233478 chr3 24003783 24003783 G A rs369397783 NR1D2 Nonsynonymous SNV S203N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 233479 chr9 26995580 26995580 T A rs41271181 LRRC19 Nonsynonymous SNV D351V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 233480 chr8 110424563 110424563 C A rs145408242 PKHD1L1 Nonsynonymous SNV P719T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 233481 chr19 6374520 6374520 C A ALKBH7 Nonsynonymous SNV S141R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.8 233482 chr3 37323579 37323579 C T GOLGA4 Nonsynonymous SNV S98F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 233483 chr8 117954812 117954812 C T rs546958590 AARD Stop gain Q114X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 233484 chr8 124085668 124085668 G A TBC1D31 Nonsynonymous SNV G15D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.691 233485 chr2 234368442 234368442 G A DGKD Nonsynonymous SNV V868M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 233486 chr7 135387630 135387630 C T SLC13A4, SLC13A4 Nonsynonymous SNV R199K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 233487 chr10 27964310 27964310 T C MKX Nonsynonymous SNV T303A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 233488 chr7 138921767 138921767 C G UBN2 Nonsynonymous SNV T162R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 233489 chr9 79007347 79007347 G A rs752946979 RFK Nonsynonymous SNV T74M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.59 233490 chr9 8500930 8500930 G T rs747273613 PTPRD Nonsynonymous SNV A651E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 233491 chr8 140744333 140744333 C T rs138778665 TRAPPC9 Synonymous SNV G1047G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.66 233492 chr8 141716294 141716294 G A rs774124653 PTK2 Nonsynonymous SNV P28L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 233493 chr3 46496853 46496853 C T rs138961010 LTF Synonymous SNV A149A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.49 233494 chr17 183017 183017 G A rs139440693 LOC100506388 0 0.003 0 0 0 1 0 0 0 0 0 0 1.372 233495 chr2 241872188 241872188 C T rs926970099 CROCC2 Nonsynonymous SNV R372C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.08 233496 chr9 90500535 90500535 G A rs772966146 SPATA31E1 Stop gain W378X 0.001 0 0 0 1 0 0 0 0 0 0 0 25 233497 chr10 49450214 49450214 G A FRMPD2 Nonsynonymous SNV T162I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 233498 chr9 97063277 97063277 A G rs773938562 ZNF169 Synonymous SNV T288T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.727 233499 chr17 695210 695210 C T rs150450629 MRM3 Synonymous SNV S192S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.26 233500 chr17 900476 900476 C T rs112076795 TIMM22 Synonymous SNV L32L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 233501 chr17 902110 902110 T G rs112899927 TIMM22 Synonymous SNV T110T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.714 233502 chr9 99408308 99408308 T C rs148879665 PRXL2C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 233503 chrM 1049 1049 A G RNR1 0 0 0.014 0 0 0 0 4 0 0 2 0 233504 chr17 1554204 1554204 G A rs141762321 PRPF8 Synonymous SNV N2300N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.222 233505 chr17 1556958 1556958 G A rs34341522 PRPF8 Synonymous SNV L2083L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.687 233506 chr17 2577375 2577375 A T rs2228614 PAFAH1B1 Synonymous SNV T231T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.1 233507 chr17 2614863 2614863 G A rs188228093 CLUH Synonymous SNV G31G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.22 233508 chrX 105449803 105449803 C T rs375392432 PWWP3B Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.881 233509 chrX 105876250 105876250 A - RADX E394Kfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 233510 chr2 27527873 27527873 G A rs369278043 TRIM54 Nonsynonymous SNV R187H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 233511 chrX 150154544 150154544 A G HMGB3 Synonymous SNV K57K 0 0 0.007 0 0 0 0 2 0 0 1 0 10.16 233512 chrX 12735823 12735823 G A rs138299368 FRMPD4 Nonsynonymous SNV A920T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.001 233513 chr19 10798096 10798096 G A rs746150437 ILF3 Nonsynonymous SNV G712S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 233514 chr8 145659015 145659015 C A rs200834102 TONSL Nonsynonymous SNV S1172I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.2 233515 chr7 21893952 21893952 A T rs528354205 DNAH11 Nonsynonymous SNV N3694I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 31 233516 chr19 11609119 11609119 C A rs761510118 ZNF653 Nonsynonymous SNV R112L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 233517 chr10 73573062 73573062 G A rs771985391 CDH23 Nonsynonymous SNV R129Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 233518 chr2 38179345 38179345 G A rs201107537 RMDN2 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 19.09 233519 chr12 56331295 56331295 G A rs757461125 DGKA Nonsynonymous SNV G81D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 233520 chr8 146033673 146033673 G T rs373001972 ZNF517 Nonsynonymous SNV G451W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 233521 chr8 1649385 1649385 A C DLGAP2 Nonsynonymous SNV K994T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 233522 chr10 79579722 79579722 C T rs762393694 DLG5 Nonsynonymous SNV A1153T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.128 233523 chr19 14077528 14077528 C T rs151266260 RFX1 Nonsynonymous SNV D590N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 233524 chr17 5114137 5114137 C T rs201961696 SCIMP Nonsynonymous SNV D126N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 233525 chr2 43956881 43956881 C A rs372438174 PLEKHH2 Nonsynonymous SNV P943T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 233526 chrX 51150623 51150623 A G EZHIP Nonsynonymous SNV H252R 0 0 0.007 0 0 0 0 2 0 0 1 0 0.001 233527 chr17 5991337 5991337 A C rs60209570 WSCD1 Nonsynonymous SNV D152A 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 10.48 233528 chrX 55033715 55033715 C T APEX2 Synonymous SNV L297L 0 0 0.007 0 0 0 0 2 0 0 1 0 10.05 233529 chrX 153282018 153282018 C T rs145385375 IRAK1 Nonsynonymous SNV G369E 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 233530 chr7 36324354 36324354 G A rs757410837 EEPD1 Synonymous SNV A367A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.401 233531 chrX 9693868 9693868 C T rs150992924 GPR143 Nonsynonymous SNV S378N 0 0 0.017 1 0 0 0.003 5 0 0 2 0 Benign 21.6 233532 chr19 16024709 16024709 C T rs146897508 CYP4F11 Nonsynonymous SNV G470R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 233533 chr12 6631204 6631204 G A rs149296057 NCAPD2 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 27.9 233534 chr7 41729843 41729843 C T rs138819536 INHBA Nonsynonymous SNV R229Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 233535 chr17 7835124 7835124 C G rs752278706 TRAPPC1 Synonymous SNV L8L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 233536 chr4 110612144 110612144 C T rs753243548 CASP6 Nonsynonymous SNV D80N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 233537 chrX 68725573 68725573 T C rs778657309 FAM155B Synonymous SNV L150L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 233538 chr8 33230163 33230163 T C FUT10 Nonsynonymous SNV R458G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 233539 chr17 10408208 10408208 G A MYH1 Synonymous SNV T870T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 233540 chr4 126238305 126238305 C T rs191329848 FAT4 Nonsynonymous SNV P247S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 233541 chr10 11653526 11653526 - GCGGCGGCG LOC107984208 0 0 0.007 0 0 0 0 2 0 0 1 0 233542 chr10 105762143 105762143 G A rs200759996 SLK Nonsynonymous SNV D403N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.664 233543 chr19 19680275 19680275 C T rs200171479 PBX4 Nonsynonymous SNV G251S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.7 233544 chr19 19765421 19765421 C T rs200199358 ATP13A1 Nonsynonymous SNV D582N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 233545 chr10 121436653 121436653 C G BAG3 Synonymous SNV A529A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 233546 chr4 147431082 147431082 G A rs192774484 SLC10A7 Synonymous SNV N101N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 233547 chr7 65546958 65546958 G T rs764555326 ASL Nonsynonymous SNV D61Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 233548 chr4 151788952 151788952 C T rs138956153 LRBA Synonymous SNV K879K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.39 233549 chr8 6588323 6588323 A G rs115348738 AGPAT5 Synonymous SNV P127P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.815 233550 chr17 18219259 18219259 G C rs202100652 SMCR8 Nonsynonymous SNV K52N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 233551 chr10 124896817 124896817 G A rs45492702 HMX3 Nonsynonymous SNV G215D 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 16.8 233552 chr10 116213168 116213168 C T rs777212178 ABLIM1 Nonsynonymous SNV A164T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 233553 chr17 19285262 19285262 G C rs56388327 MAPK7 Nonsynonymous SNV G410A 0 0.005 0 0 0 2 0 0 0 0 0 0 6.928 233554 chr10 118357366 118357366 G A rs200926030 PNLIPRP1 Nonsynonymous SNV E201K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 233555 chr10 129903654 129903654 T C rs781162937 MKI67 Synonymous SNV P1790P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.326 233556 chr17 27055853 27055853 C G rs199621354 NEK8 Nonsynonymous SNV R8G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 233557 chr4 173961101 173961101 T A GALNTL6 Nonsynonymous SNV H552Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 233558 chr10 15296844 15296844 T G rs141312276 FAM171A1 Nonsynonymous SNV R151S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 233559 chr4 177116566 177116566 G A SPATA4 Nonsynonymous SNV R50C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 233560 chr4 177136860 177136860 T A ASB5 Nonsynonymous SNV Y294F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 233561 chr9 104125045 104125045 G T rs774616224 BAAT Nonsynonymous SNV Q308K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.677 233562 chr10 18828378 18828378 C G rs151274272 CACNB2 Nonsynonymous SNV P515A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.027 233563 chr3 122274865 122274865 C T rs146677229 PARP9 Synonymous SNV Q86Q 0 0 0 2 0 0 0.005 0 0 0 0 0 4.576 233564 chr9 107588062 107588062 T C rs145582736 ABCA1 Nonsynonymous SNV E815G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 233565 chr19 38742032 38742032 G A rs140507040 PPP1R14A Nonsynonymous SNV L97F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 233566 chr10 30602680 30602680 G C rs147174746 MTPAP Nonsynonymous SNV P536R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 233567 chr9 116034711 116034711 A G rs761300226 CDC26 Nonsynonymous SNV L26P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 233568 chr19 40832311 40832311 G A rs768031239 C19orf47 Synonymous SNV Y211Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 233569 chr17 38142869 38142869 G A rs113755444 PSMD3 Synonymous SNV T151T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.9 233570 chr9 123476303 123476303 A C rs7861158 MEGF9 Nonsynonymous SNV S112A 0.003 0 0 0 4 0 0 0 1 0 0 0 0.001 233571 chr9 123671613 123671613 C T rs112060909 TRAF1 Synonymous SNV L187L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.13 233572 chr13 77759391 77759391 A G rs61753810 MYCBP2 Synonymous SNV N1522N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 6.969 233573 chr9 123751967 123751967 C G rs150096192 C5 Nonsynonymous SNV E1017D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.4 233574 chr10 55582072 55582072 G A rs114137983 PCDH15 Nonsynonymous SNV P1765L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.9 233575 chr10 61831663 61831663 T C rs756823894 ANK3 Synonymous SNV Q2992Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 233576 chr19 45185851 45185851 C G rs112109648 CEACAM19 Nonsynonymous SNV P269A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 233577 chr3 13860563 13860563 C T WNT7A Nonsynonymous SNV G310R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 233578 chr10 69881254 69881254 A G rs140148105 MYPN Nonsynonymous SNV Y20C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 233579 chr3 141163806 141163806 T A rs905671192 ZBTB38 Nonsynonymous SNV F859Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 233580 chr10 70191683 70191683 G A DNA2 Nonsynonymous SNV S640L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 34 233581 chr19 46269851 46269851 G A rs569540038 SIX5 Nonsynonymous SNV L456F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 233582 chr19 46281385 46281385 C T rs143006643 DMPK Synonymous SNV T136T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 233583 chr19 46526073 46526073 G A rs779389451 PGLYRP1 Synonymous SNV T69T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.163 233584 chr4 56348917 56348917 C T rs777172478 CLOCK Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 233585 chr10 72505051 72505051 C T ADAMTS14 Nonsynonymous SNV P751L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 233586 chr9 128001307 128001307 A G HSPA5 Synonymous SNV H303H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.362 233587 chr8 144162507 144162507 C T rs764322760 LY6L Synonymous SNV L13L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 5.911 233588 chr4 5991122 5991122 G A rs542243666 C4orf50 Nonsynonymous SNV T705M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.048 233589 chr4 62936143 62936143 G A rs375355903 ADGRL3 Synonymous SNV S1282S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.524 233590 chr4 6611575 6611575 A G MAN2B2 Nonsynonymous SNV H635R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 233591 chr17 42437419 42437419 C T rs191662436 FAM171A2 Nonsynonymous SNV R67Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 233592 chr10 83635850 83635858 TCCTCTTCT - rs764580983 NRG3 S258_S260del 0 0 0.003 0 0 0 0 1 0 0 0 0 233593 chr10 86018269 86018269 C A rs748553756 RGR Synonymous SNV P212P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 233594 chr10 88416964 88416964 T G rs41297165 OPN4 Synonymous SNV R101R 0 0.005 0.007 0 0 2 0 2 0 0 0 0 0.49 233595 chr10 88417867 88417867 G - rs571378526 OPN4 A124Pfs*35 0 0.005 0.007 0 0 2 0 2 0 0 0 0 233596 chr9 131940044 131940044 G A rs568379257 IER5L Synonymous SNV G96G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.32 233597 chr10 88681353 88681353 G A rs140592056 BMPR1A Nonsynonymous SNV E415K 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 233598 chr10 90332662 90332662 G A rs748097942 RNLS Nonsynonymous SNV T175I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 233599 chr17 44060807 44060807 G A rs76375268 MAPT Nonsynonymous SNV G213R 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Benign 11.71 233600 chr14 21162159 21162159 C T rs539098577 ANG Nonsynonymous SNV R146C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 233601 chr9 134136377 134136377 G A rs772377784 FAM78A Synonymous SNV R228R 0.001 0 0 0 1 0 0 0 0 0 0 0 8 233602 chr4 73179445 73179445 C T rs141374503 ADAMTS3 Nonsynonymous SNV R565Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 35 233603 chr20 60640253 60640253 A G TAF4 Nonsynonymous SNV L205P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.111 233604 chr8 145661563 145661563 G A rs756871428 TONSL Synonymous SNV G751G 0.003 0 0 0 4 0 0 0 0 0 0 0 4.844 233605 chr17 46878731 46878731 G A rs532435543 TTLL6 Nonsynonymous SNV P166L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 32 233606 chr9 135554942 135554942 G C rs368103877 GTF3C4 Nonsynonymous SNV E646Q 0.002 0 0 0 2 0 0 0 0 0 0 0 2.477 233607 chr14 23390272 23390272 G A rs765511242 PRMT5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 233608 chr14 23495427 23495427 T C PSMB5 Synonymous SNV Q118Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.536 233609 chr14 23523440 23523440 C T rs147423144 CDH24 Nonsynonymous SNV M294I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.8 233610 chr8 1905367 1905367 C T rs35095003 ARHGEF10 Nonsynonymous SNV P1287S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.033 233611 chr9 138518046 138518046 G A GLT6D1 Synonymous SNV R42R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.682 233612 chr17 53016293 53016293 C T rs770583334 TOM1L1 Nonsynonymous SNV L271F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.534 233613 chr19 51827069 51827069 C T rs200284848 IGLON5 Synonymous SNV L104L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.11 233614 chr8 2044094 2044094 G A rs34141835 MYOM2 Synonymous SNV P711P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.217 233615 chr9 139390954 139390954 G A rs375679294 NOTCH1 Nonsynonymous SNV P2413S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 233616 chr8 2063829 2063829 G A rs145361700 MYOM2 Synonymous SNV G1086G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.733 233617 chr4 82368691 82368691 C T rs775163018 RASGEF1B Synonymous SNV A190A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 233618 chr9 140055515 140055515 C G GRIN1 Nonsynonymous SNV T402R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 233619 chr4 89601275 89601275 C T rs146347188 HERC3 Nonsynonymous SNV A625V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 233620 chr10 73831956 73831956 A G rs41307524 SPOCK2 Nonsynonymous SNV I102T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 23.3 233621 chr17 65185800 65185800 T C rs200311859 HELZ Nonsynonymous SNV I257V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 233622 chr11 1078658 1078658 C T rs375545427 MUC2 Nonsynonymous SNV T289M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.29 233623 chr11 1092813 1092813 C T rs12577898 MUC2 Synonymous SNV T1544T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.63 233624 chr11 113699945 113699945 C T rs774912383 USP28 Nonsynonymous SNV D12N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 233625 chr11 117222685 117222685 - C rs747914869 CEP164 Frameshift insertion K128Qfs*77 0 0 0.003 1 0 0 0.003 1 0 0 0 0 233626 chr5 126168433 126168433 - GAG rs747030039 LMNB1 E349_A350insE 0.003 0 0.003 0 3 0 0 1 0 0 0 0 233627 chr8 67988805 67988805 G C rs752873157 CSPP1 Nonsynonymous SNV R63T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.218 233628 chr9 38396723 38396723 C T rs746866232 ALDH1B1 Synonymous SNV F326F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.286 233629 chr10 98823988 98823988 T G SLIT1 Nonsynonymous SNV N189T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 233630 chr11 118772613 118772613 C A BCL9L Synonymous SNV G613G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 233631 chr9 71836115 71836115 C T rs750631073 TJP2 Nonsynonymous SNV R223W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 233632 chr11 119053903 119053903 C T rs149852877 NLRX1 Nonsynonymous SNV R895W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 233633 chr5 132209419 132209419 G T rs146102648 LEAP2 Nonsynonymous SNV M11I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.974 233634 chr17 73754308 73754308 C T rs374566360 GALK1 Nonsynonymous SNV A364T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.72 233635 chr11 120292558 120292558 C G ARHGEF12 Nonsynonymous SNV I96M 0 0 0.007 0 0 0 0 2 0 0 1 0 26.2 233636 chr3 39307236 39307236 C T rs55975803 CX3CR1 Synonymous SNV T255T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 12.5 233637 chr11 121036081 121036081 C A rs754213928 TECTA Nonsynonymous SNV P1791H 0 0 0.007 0 0 0 0 2 0 0 1 0 23.3 233638 chr17 74078687 74078687 G A rs558659991 ZACN Nonsynonymous SNV A398T 0 0.003 0 0 0 1 0 0 0 0 0 0 24 233639 chr9 79322609 79322609 C T rs372689476 PRUNE2 Synonymous SNV S1527S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 233640 chr9 79983002 79983002 C G VPS13A Nonsynonymous SNV H2796D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 233641 chr11 126551745 126551745 G A LOC101929427 0 0 0.007 0 0 0 0 2 0 0 1 0 1.015 233642 chr9 111625501 111625501 G A rs770642928 ACTL7A Nonsynonymous SNV R300H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.535 233643 chr17 77984347 77984347 G A rs778214302 TBC1D16 Nonsynonymous SNV R131W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 233644 chr9 96436037 96436037 G A rs41276200 PHF2 Nonsynonymous SNV S840N 0.006 0 0.003 1 7 0 0.003 1 0 0 0 0 8.693 233645 chr9 111714557 111714557 C G rs536377756 CTNNAL1 Nonsynonymous SNV Q589H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 233646 chr11 16362593 16362593 C T rs142511858 SOX6 Nonsynonymous SNV D68N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.8 233647 chrX 107431169 107431169 C T rs142508831 COL4A6 Nonsynonymous SNV R559Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.288 233648 chr15 102263299 102263299 G A rs142596036 TARS3 Synonymous SNV S122S 0.003 0 0 0 4 0 0 0 0 0 0 0 6.906 233649 chr11 2321956 2321956 G A rs764918800 C11orf21 Nonsynonymous SNV A50V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 233650 chr9 117187295 117187295 G A rs200276167 WHRN Synonymous SNV G41G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.115 233651 chr15 29385312 29385312 C T rs142834940 APBA2 Synonymous SNV D72D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.62 233652 chr17 80320049 80320049 G A rs143841873 TEX19 Nonsynonymous SNV R8Q 0 0.005 0 0 0 2 0 0 0 0 0 0 17.13 233653 chr9 120476906 120476906 C A rs5030724 TLR4 Nonsynonymous SNV Q634K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.243 233654 chr17 80439061 80439061 G A rs375187791 NARF Nonsynonymous SNV R200Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 233655 chr17 80617502 80617502 C A RAB40B Nonsynonymous SNV R99L 0 0.005 0 0 0 2 0 0 0 0 0 0 35 233656 chr5 150276531 150276531 C T rs140184420 ZNF300 Synonymous SNV R54R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 233657 chr17 80851487 80851487 C T TBCD Nonsynonymous SNV S543F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 233658 chr3 55984460 55984460 T G rs376662259 ERC2 Nonsynonymous SNV H797P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 233659 chr11 32676492 32676492 - A rs769749623 CCDC73 Frameshift insertion L224Ffs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 233660 chrX 153780338 153780338 C G rs782030098 IKBKG Nonsynonymous SNV L109V 0.005 0.013 0 2 6 5 0.005 0 1 2 0 1 2.99 233661 chrX 154007461 154007461 C G MPP1 Nonsynonymous SNV W447C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 233662 chr18 8825248 8825248 G A rs576687365 MTCL1 Nonsynonymous SNV R1247Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 233663 chr3 81698142 81698142 A G rs761041809 GBE1 Nonsynonymous SNV F186L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 233664 chr15 42041643 42041643 G A MGA Synonymous SNV L1737L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.734 233665 chrX 2876351 2876351 A G rs774620797 ARSL Nonsynonymous SNV I50T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 233666 chr5 160047777 160047777 C T ATP10B Nonsynonymous SNV D665N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.959 233667 chr20 25434234 25434234 G A rs200042917 NINL Synonymous SNV Y985Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.764 233668 chr11 46717533 46717533 G C rs535881239 ARHGAP1 Nonsynonymous SNV P42R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 233669 chrX 36317259 36317259 C T CFAP47 Synonymous SNV S2618S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.702 233670 chr20 31024033 31024033 T C rs768239600 ASXL1 Nonsynonymous SNV L1112S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.896 233671 chrX 57358191 57358191 C A rs771556131 FAAH2 Synonymous SNV G191G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.018 233672 chrX 67292998 67292998 G A rs368803937 OPHN1 Synonymous SNV S610S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.66 233673 chr18 44157825 44157825 G A rs201388780 LOXHD1 Synonymous SNV D605D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.827 233674 chr20 42972120 42972120 G A rs112634290 R3HDML Nonsynonymous SNV D162N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.358 233675 chr5 180432379 180432379 T A rs369608700 BTNL3 Nonsynonymous SNV V303D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 233676 chr18 56149216 56149216 G A rs368005415 ALPK2 Synonymous SNV L2118L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.957 233677 chr1 1685603 1685603 C T rs750455546 NADK Nonsynonymous SNV A298T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 233678 chr5 34944993 34944995 AAA - DNAJC21 K337del 0.001 0 0 0 1 0 0 0 0 0 0 0 233679 chr1 2103506 2103506 C G rs2280272 PRKCZ Synonymous SNV A175A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.68 233680 chr1 2130262 2130262 C G rs144802031 FAAP20 Nonsynonymous SNV G56R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.013 233681 chr20 49354420 49354420 G A rs75953522 PARD6B Synonymous SNV S31S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 233682 chr20 50049153 50049153 T C NFATC2 Nonsynonymous SNV M705V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.44 233683 chr9 139835893 139835893 C T rs771841749 FBXW5 Nonsynonymous SNV A423T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 233684 chr18 60052231 60052231 G A TNFRSF11A Synonymous SNV S288S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 233685 chr1 6188992 6188992 G A rs116762924 CHD5 Synonymous SNV P1175P 0.003 0 0 0 4 0 0 0 0 0 0 0 11.12 233686 chrX 74520815 74520815 A C rs768375040 UPRT Synonymous SNV R280R 0 0.005 0 0 0 2 0 0 0 1 0 0 2.671 233687 chr11 22759285 22759285 T C GAS2 Synonymous SNV C148C 0 0.003 0 0 0 1 0 0 0 0 0 0 3.587 233688 chr18 74728775 74728775 C T rs143800468 MBP Nonsynonymous SNV E197K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.5 233689 chr18 77096701 77096701 A G ATP9B Nonsynonymous SNV Q701R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 233690 chr18 77170944 77170944 C T rs375731796 NFATC1 Synonymous SNV R223R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 233691 chr9 20360754 20360754 T A rs749879055 MLLT3 Nonsynonymous SNV T470S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 233692 chr4 169382888 169382888 T C rs961769350 DDX60L Nonsynonymous SNV M190V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 233693 chr19 622650 622650 T C rs749238791 POLRMT Nonsynonymous SNV S520G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.766 233694 chrX 140994096 140994200 TCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCT - MAGEC1 V307_P341del 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 233695 chr4 175897252 175897252 C A rs367723910 ADAM29 Synonymous SNV G192G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.588 233696 chr4 17813921 17813921 A G rs141900948 NCAPG Synonymous SNV P63P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.205 233697 chr5 75858326 75858326 G A rs773595191 IQGAP2 Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 233698 chr21 34003563 34003563 C T rs146425050 SYNJ1 Synonymous SNV E1441E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 11.87 233699 chr19 2137025 2137025 G A rs991353636 AP3D1 Synonymous SNV T113T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 233700 chr11 60620501 60620501 C A rs760275552 PTGDR2 Nonsynonymous SNV R232L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.625 233701 chr11 6129628 6129628 T C OR56B4 Nonsynonymous SNV M207T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.335 233702 chr16 14015978 14015978 G A ERCC4 Nonsynonymous SNV V100I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 233703 chr5 96237384 96237384 A G rs755035442 ERAP2 Nonsynonymous SNV R538G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.305 233704 chr5 96432554 96432554 C T rs200283867 LIX1 Nonsynonymous SNV G174E 0.003 0 0 0 3 0 0 0 0 0 0 0 33 233705 chr6 105800950 105800950 T C PREP Synonymous SNV L240L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 233706 chr11 93844764 93844764 A G rs184946138 HEPHL1 Synonymous SNV P1090P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.871 233707 chr21 47845881 47845881 C T rs141561546 PCNT Nonsynonymous SNV T2321M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.713 233708 chr4 57180576 57180576 - GGAGCGGAG CRACD R308_E309insRER 0 0 0 1 0 0 0.003 0 0 0 0 0 233709 chr16 20792122 20792122 C T rs137879235 ACSM3 Nonsynonymous SNV P242L 0.001 0 0 0 1 0 0 0 0 0 0 0 29 233710 chr16 21051256 21051256 G A rs141534193 DNAH3 Nonsynonymous SNV R1504W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 233711 chr11 65319752 65319752 C T rs368676768 LTBP3 Nonsynonymous SNV A438T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 233712 chrX 132092478 132092478 G A rs764448811 HS6ST2 Synonymous SNV R51R 0.002 0 0 0 2 0 0 0 1 0 0 0 6.421 233713 chr16 23497372 23497372 C G rs201102052 GGA2 Nonsynonymous SNV R254S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 233714 chr11 65653071 65653071 C G rs767516518 FIBP Nonsynonymous SNV Q192H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 233715 chr6 127767568 127767568 C T rs17054684 KIAA0408 Synonymous SNV P632P 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 14.48 233716 chr6 127767904 127767904 T A rs17054687 KIAA0408 Synonymous SNV L520L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 10.56 233717 chr6 128150821 128150821 T C rs141326956 THEMIS Nonsynonymous SNV E170G 0.001 0 0 0 1 0 0 0 0 0 0 0 27 233718 chr11 66456292 66456292 A C rs748137168 SPTBN2 Nonsynonymous SNV D2021E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 233719 chr11 67225908 67225908 G A rs200006745 CABP4 Nonsynonymous SNV G135R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 233720 chr11 68192723 68192723 C T rs769592327 LRP5 Synonymous SNV D549D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.33 233721 chr11 70269062 70269062 C T rs190841561 CTTN Synonymous SNV F269F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 233722 chr19 9008324 9008324 G T rs79709975 MUC16 Synonymous SNV A13076A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.48 233723 chr22 28193097 28193097 C T rs45471598 MN1 Synonymous SNV P1145P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.12 233724 chr22 28194747 28194747 C T rs45554336 MN1 Synonymous SNV V595V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 9.209 233725 chrX 54950960 54950960 C T rs200640045 TRO Nonsynonymous SNV P41L 0.004 0.005 0 0 5 2 0 0 2 1 0 0 21.4 233726 chrX 57313305 57313305 C A rs141576226 FAAH2 Nonsynonymous SNV A16E 0.005 0 0 0 6 0 0 0 3 0 0 0 10.3 233727 chr1 52520740 52520740 G A rs142456533 TXNDC12 Nonsynonymous SNV T10I 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.7 233728 chr16 3361818 3361818 C T rs931942491 ZNF75A Synonymous SNV F158F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.064 233729 chr22 30824621 30824621 A T rs114347202 MTFP1 Nonsynonymous SNV D123V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.694 233730 chrX 71428260 71428260 T C rs901022791 ERCC6L Nonsynonymous SNV I119M 0.006 0.003 0 0 7 1 0 0 2 0 0 0 18.72 233731 chrX 74291490 74291490 T C ABCB7 Nonsynonymous SNV Q314R 0.006 0.003 0 0 7 1 0 0 2 0 0 0 14.12 233732 chr6 155750167 155750167 G A rs200010606 NOX3 Synonymous SNV P302P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.313 233733 chr6 157099402 157099402 - CAGCAGCAG ARID1B Q131_H132insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 233734 chr22 31663875 31663875 G A rs114531016 LIMK2 Synonymous SNV K393K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.29 233735 chr22 31998700 31998702 CCA - rs201148493 SFI1 H525del 0.001 0 0 0 1 0 0 0 0 0 0 0 233736 chr11 82644559 82644560 TT - DDIAS F727Hfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 233737 chr11 864473 864473 G A rs148008576 TSPAN4 Nonsynonymous SNV A98T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 233738 chr6 160510205 160510205 T C rs55987511 IGF2R Synonymous SNV P2129P 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 Benign 1.406 233739 chr19 10402932 10402932 C A ICAM5 Nonsynonymous SNV Q299K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 233740 chr19 10403307 10403307 G C ICAM5 Synonymous SNV L327L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 233741 chr11 57100974 57100974 C T rs377522214 SSRP1 Nonsynonymous SNV R94H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 233742 chr1 70618150 70618150 A G rs371514782 LRRC40 Nonsynonymous SNV C469R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 233743 chr19 12978673 12978673 G A rs199760021 MAST1 Synonymous SNV E816E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.02 233744 chr12 102589975 102589975 G T PARPBP Nonsynonymous SNV G468V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.893 233745 chr12 104067803 104067803 T C rs778276547 STAB2 Synonymous SNV C830C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.255 233746 chr12 104254975 104254975 C G rs74651613 TTC41P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.66 233747 chr22 44681501 44681501 C T SHISAL1 Nonsynonymous SNV G136S 0.001 0 0 0 1 0 0 0 0 0 0 0 26 233748 chr11 6023800 6023800 G A OR56A4 Synonymous SNV D141D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.207 233749 chr19 15132241 15132241 C G rs750573444 CCDC105 Nonsynonymous SNV N317K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 233750 chr6 27107360 27107360 C G rs570548268 H4C9 Synonymous SNV L91L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.644 233751 chr12 110475345 110475345 C T rs769677196 ANKRD13A Nonsynonymous SNV L587F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 233752 chr5 137426606 137426606 G T rs765965616 WNT8A Nonsynonymous SNV Q318H 0.007 0 0 2 8 0 0.005 0 0 0 0 0 12.24 233753 chr5 137518669 137518669 C T rs748238660 KIF20A Synonymous SNV S274S 0.007 0 0 2 8 0 0.005 0 0 0 0 0 7.431 233754 chr6 33647853 33647853 C T rs111882381 ITPR3 Synonymous SNV S1389S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.74 233755 chr6 33647871 33647871 C T rs41271253 ITPR3 Synonymous SNV D1395D 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.15 233756 chr19 16957912 16957912 C T rs540045496 SIN3B Synonymous SNV A238A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.86 233757 chr12 113748055 113748055 G A SLC8B1 Nonsynonymous SNV P358L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 233758 chr12 11061283 11061283 - A TAS2R13 Frameshift insertion Q206Afs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 233759 chr11 64064397 64064397 G A rs371707971 KCNK4 Synonymous SNV S79S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.65 233760 chr11 64067900 64067900 G A rs376331366 CATSPERZ Synonymous SNV S6S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.13 233761 chr19 17628640 17628640 G A rs533662223 PGLS Nonsynonymous SNV G207D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 233762 chr1 112539182 112539182 G A rs184702027 LINC01750 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.276 233763 chr19 17953355 17953355 T G rs56269787 JAK3 Synonymous SNV R211R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 9.629 233764 chr11 65397080 65397080 C T rs750527263 PCNX3 Nonsynonymous SNV R1364C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 233765 chr11 65545878 65545878 G A rs762220636 AP5B1 Nonsynonymous SNV R696C 0 0.003 0 0 0 1 0 0 0 0 0 0 29 233766 chrX 53453272 53453272 C T rs144461098 RIBC1 Synonymous SNV I16I 0.005 0.005 0 0 6 2 0 0 2 1 0 0 13.99 233767 chr11 6568716 6568716 G C rs746897064 DNHD1 Nonsynonymous SNV E2183Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 233768 chr12 133149142 133149142 G A rs377581541 FBRSL1 Synonymous SNV P506P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 233769 chr12 41337835 41337835 A G rs547675934 CNTN1 Nonsynonymous SNV I505V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 233770 chr11 66083049 66083049 C T rs141408995 CD248 Nonsynonymous SNV V484M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.955 233771 chr11 66393040 66393040 G T RBM14 Nonsynonymous SNV A565S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 233772 chr11 66468666 66468666 C T rs143948660 SPTBN2 Synonymous SNV T968T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 14.42 233773 chr11 67186470 67186470 C T rs759036449 CARNS1 Nonsynonymous SNV S80L 0 0.003 0 0 0 1 0 0 0 0 0 0 29 233774 chr5 1477578 1477578 A G LPCAT1 Synonymous SNV S280S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.053 233775 chr12 1675943 1675943 C T rs145116646 FBXL14 Nonsynonymous SNV V410M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 233776 chr12 21229494 21229494 C T rs138097461 SLCO1B3-SLCO1B7, SLCO1B7 Nonsynonymous SNV T572I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.552 233777 chr11 7092425 7092425 T C NLRP14 Synonymous SNV D1056D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.994 233778 chr12 3048537 3048537 A C TULP3 Nonsynonymous SNV N419T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 233779 chr6 56458982 56458982 C T rs774002432 DST Nonsynonymous SNV E1446K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 233780 chrX 132160512 132160512 C T rs138385391 USP26 Nonsynonymous SNV M579I 0.003 0.003 0 3 3 1 0.008 0 0 0 0 1 Benign 0.117 233781 chrX 135482093 135482093 C G ADGRG4 Nonsynonymous SNV S2798C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 233782 chrX 138679648 138679648 T C MCF2 Nonsynonymous SNV M637V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 233783 chr19 36278341 36278341 C T rs766996032 ARHGAP33 Synonymous SNV H822H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.007 233784 chr11 74715388 74715388 C A NEU3 Nonsynonymous SNV N115K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.74 233785 chr12 53002200 53002200 G C rs150852133 KRT73 Nonsynonymous SNV T468R 0.004 0.005 0.01 0 5 2 0 3 0 0 0 0 5.969 233786 chr12 4639094 4639094 A G rs199562466 C12orf4 Synonymous SNV F149F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.381 233787 chr1 158064826 158064826 C T rs201178816 KIRREL1 Synonymous SNV Y630Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 233788 chr1 158298724 158298724 A G rs370669453 CD1B Nonsynonymous SNV Y323H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.961 233789 chr6 74490182 74490185 TTAT - rs774874375 CD109 Stop gain Y545* 0.001 0 0 0 1 0 0 0 0 0 0 0 233790 chr19 38190206 38190206 - ATGA rs763033506 ZNF607 Frameshift insertion T275Sfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 233791 chr19 38692611 38692611 G A rs144475976 SIPA1L3 Synonymous SNV P1698P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 233792 chr12 49487997 49487997 G C rs373175837 DHH Nonsynonymous SNV T100S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 233793 chr12 49743397 49743397 G A rs146992631 DNAJC22 Nonsynonymous SNV G248R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 20.3 233794 chr19 39370116 39370116 G A rs192567608 SIRT2 Synonymous SNV C287C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.71 233795 chr1 160305044 160305044 C T rs77097084 COPA Synonymous SNV T99T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.57 233796 chr6 97063639 97063639 T A rs748562049 FHL5 Synonymous SNV T282T 0.003 0 0 0 3 0 0 0 0 0 0 0 6.821 233797 chr12 53169383 53169383 G A rs145628518 KRT76 Nonsynonymous SNV R202W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 233798 chr19 42490109 42490109 G A rs782560151 ATP1A3 Synonymous SNV N182N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.9 233799 chr19 44057054 44057054 C A XRCC1 Stop gain E240X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 233800 chr11 94862194 94862194 A G rs371941104 ENDOD1 Synonymous SNV P318P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.617 233801 chr1 176054921 176054921 G A rs138406127 COP1 Nonsynonymous SNV R138C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 233802 chr12 57578933 57578933 C T rs779310829 LRP1 Synonymous SNV T2136T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.23 233803 chr1 180159632 180159632 G A QSOX1 Nonsynonymous SNV G402D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 233804 chr19 44661653 44661653 G C ZNF234 Nonsynonymous SNV R495P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 233805 chr12 102164267 102164267 G A GNPTAB Nonsynonymous SNV R344W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 233806 chr12 58010124 58010124 G A rs116051216 ARHGEF25 Nonsynonymous SNV R463Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 233807 chr12 66522840 66522840 T C rs764231196 LLPH Nonsynonymous SNV E16G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 233808 chr1 186363110 186363110 C T ODR4 Nonsynonymous SNV T216I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 233809 chr12 6756497 6756497 G T rs149102167 ACRBP Synonymous SNV L12L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.282 233810 chr12 100720492 100720492 A G rs374841479 SCYL2 Synonymous SNV Q534Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.107 233811 chr12 71182610 71182610 A G rs900432965 PTPRR Nonsynonymous SNV S3P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.488 233812 chr12 71533545 71533545 C G rs746874333 TSPAN8 Synonymous SNV L69L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.903 233813 chr12 111162569 111162569 - ATTCATCATAAAATCCATAAATT PPP1CC Stop gain C140* 0 0.005 0 0 0 2 0 0 0 0 0 0 233814 chr12 112673417 112673417 G C rs370128307 HECTD4 Synonymous SNV P1882P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 5.451 233815 chr12 113416542 113416542 C T OAS2 Synonymous SNV D43D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.7 233816 chr12 113596869 113596869 C T rs143647024 DDX54 Nonsynonymous SNV R821H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 22.1 233817 chr7 111368461 111368461 C T rs570677862 DOCK4 Nonsynonymous SNV V1924I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 233818 chr5 76732117 76732117 C T rs527296105 WDR41 Nonsynonymous SNV G399E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 233819 chr12 93157851 93157851 C T rs374518779 PLEKHG7 Nonsynonymous SNV P272L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 233820 chr12 120611568 120611568 T C rs761702392 GCN1 Nonsynonymous SNV M419V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 233821 chr12 121880461 121880461 T A rs368013325 KDM2B Nonsynonymous SNV E859V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.7 233822 chr12 122625581 122625581 G A rs369378159 MLXIP Synonymous SNV T863T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.762 233823 chr12 123087422 123087422 G A KNTC1 Synonymous SNV S1624S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.11 233824 chr12 123950408 123950408 A G rs28728202 SNRNP35 Synonymous SNV K107K 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 2.695 233825 chr13 100622668 100622685 GGCGGCGGCGGCGGCGGC - rs879255428 ZIC5 P419_P424del 0 0 0.003 0 0 0 0 1 0 0 0 0 233826 chr12 124172643 124172643 C T rs144567556 TCTN2 Synonymous SNV D269D 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.486 233827 chr19 50789815 50789815 G T MYH14 Nonsynonymous SNV R1498L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 233828 chr7 133749149 133749149 G T EXOC4 Synonymous SNV L931L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 233829 chr10 33545258 33545258 C T rs113722704 NRP1 Nonsynonymous SNV S267N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.6 233830 chr10 43606727 43606727 G C rs115423919 RET Nonsynonymous SNV G192R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 6.811 233831 chr13 113536207 113536207 C T rs368676585 ATP11A Synonymous SNV S1135S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 233832 chr7 138329491 138329491 G A rs571787686 SVOPL Nonsynonymous SNV P102S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 233833 chr10 46122370 46122370 T C rs116776522 ZFAND4 Nonsynonymous SNV T301A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 233834 chr7 1476437 1476437 G A rs199958280 MICALL2 Synonymous SNV Y844Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.778 233835 chr6 111696320 111696320 G A rs749366823 REV3L Nonsynonymous SNV R1080W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 233836 chr19 54407897 54407897 C T rs556667568 PRKCG Synonymous SNV F555F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.22 233837 chr10 61005253 61005253 G A rs926700554 PHYHIPL Nonsynonymous SNV V319M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.8 233838 chr19 55396838 55396838 G A rs761292534 FCAR Nonsynonymous SNV D76N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 233839 chr12 48369250 48369250 C T rs147569641 COL2A1 Nonsynonymous SNV G1177S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.571 233840 chr13 46287804 46287804 C G rs190401944 CBY2 Nonsynonymous SNV P188R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.735 233841 chr7 27285774 27285774 G A rs940359898 EVX1 Synonymous SNV P136P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 233842 chr14 104638113 104638113 G A rs368528336 KIF26A Synonymous SNV E389E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 233843 chr14 105609075 105609075 G A rs587606450 JAG2 Nonsynonymous SNV A1187V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.266 233844 chr7 36450127 36450127 A G rs141441175 ANLN Synonymous SNV G367G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 10.3 233845 chr19 58806122 58806122 C T rs367701613 ZNF8 Synonymous SNV A316A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 233846 chr17 7330713 7330713 G A rs749541208 SPEM2 Nonsynonymous SNV R468Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 233847 chr19 58982999 58982999 C T ZNF324 Synonymous SNV R380R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 233848 chr19 58989026 58989026 A G ZNF446 Nonsynonymous SNV Q122R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 233849 chr13 113917866 113917866 C T CUL4A Synonymous SNV D750D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 233850 chr6 166571999 166571999 A G rs375108148 TBXT Nonsynonymous SNV L313P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 233851 chr14 24710917 24710917 C G rs747931728 TINF2 Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 233852 chr20 2398109 2398109 G A rs201204278 TGM6 Nonsynonymous SNV R523Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.249 233853 chr20 2464072 2464072 T C rs149316989 ZNF343 Nonsynonymous SNV Q422R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 233854 chr2 24494783 24494783 T A ITSN2 Nonsynonymous SNV L676F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 233855 chr14 36946256 36946256 C G rs755963471 SFTA3 0 0 0.003 0 0 0 0 1 0 0 0 0 7.149 233856 chr14 39646803 39646803 T C PNN Synonymous SNV L112L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.146 233857 chr20 9561392 9561392 C T rs199607339 PAK5 Synonymous SNV Q130Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.807 233858 chr14 45650662 45650662 G A FANCM Nonsynonymous SNV E1392K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 233859 chr6 33665518 33665518 T A UQCC2 Nonsynonymous SNV E98V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 233860 chr20 21349188 21349188 G A rs149896399 XRN2 Synonymous SNV P926P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 233861 chr17 7950699 7950699 T G rs752057948 ALOX15B 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 233862 chr14 60938347 60938347 T C rs746772601 C14orf39 Nonsynonymous SNV H145R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 233863 chr11 105924593 105924593 T C rs370568304 KBTBD3 Nonsynonymous SNV I196V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 233864 chr7 91732040 91732040 G T rs200327385 AKAP9 Nonsynonymous SNV G3744W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 233865 chr14 64593458 64593458 C T rs148582250 SYNE2 Nonsynonymous SNV T4617I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.88 233866 chr14 65197874 65197874 C T rs764926223 PLEKHG3 Nonsynonymous SNV A279V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 233867 chr7 99445157 99445157 A C rs901592494 CYP3A43 Nonsynonymous SNV E122A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 233868 chr14 45566100 45566100 G A rs41307100 PRPF39 Nonsynonymous SNV R154Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 233869 chr14 45571811 45571811 A G rs45500394 PRPF39 Nonsynonymous SNV N217D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 233870 chr7 99655364 99655364 - A ZSCAN21 Frameshift insertion S149Ifs*37 0.001 0.003 0 0 1 1 0 0 0 0 0 0 233871 chr14 70634076 70634076 C A rs141396102 SLC8A3 Nonsynonymous SNV R355L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 233872 chr20 33586591 33586593 GAG - rs768316733 MYH7B E1399del 0 0.003 0 0 0 1 0 0 0 0 0 0 233873 chr2 61719527 61719527 T C rs149134432 XPO1 Synonymous SNV P552P 0.005 0 0 0 6 0 0 0 0 0 0 0 2.386 233874 chr14 72202098 72202098 C A SIPA1L1 Nonsynonymous SNV P1705T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 233875 chr14 50117066 50117066 A G rs34000915 POLE2 Nonsynonymous SNV Y446H 0.003 0 0.007 0 4 0 0 2 0 0 0 0 Benign 28.9 233876 chr14 74428063 74428063 G A rs367817034 COQ6 Nonsynonymous SNV R360Q 0 0 0.003 0 0 0 0 1 0 0 0 0 30 233877 chr14 74527398 74527398 C T ALDH6A1 Nonsynonymous SNV E506K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 233878 chr11 62010767 62010767 C T SCGB1D2 Nonsynonymous SNV A21V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 233879 chr20 37267979 37267979 C T rs141476666 ARHGAP40 Nonsynonymous SNV P409L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 233880 chr20 39609434 39609434 A G rs7273973 LOC100128988 0 0.003 0 0 0 1 0 0 0 0 0 0 9.618 233881 chr20 40040825 40040825 C G rs61292917 CHD6 Nonsynonymous SNV E2404Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 31 233882 chr14 55429541 55429541 T C WDHD1 Synonymous SNV Q731Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.677 233883 chr20 42788626 42788626 T C JPH2 Synonymous SNV G267G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 233884 chr2 73447303 73447303 C - SMYD5 C111Vfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 233885 chr13 103400847 103400847 C A rs771846407 CCDC168 Stop gain E734X 0 0.003 0 0 0 1 0 0 0 0 0 0 4.261 233886 chr14 95932568 95932568 C T rs1039805777 SYNE3 Synonymous SNV E109E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 233887 chr14 64989133 64989133 G A ZBTB1 Nonsynonymous SNV S304N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.925 233888 chr20 47587694 47587694 C T rs145564478 ARFGEF2 Synonymous SNV L410L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 233889 chr15 100890264 100890264 C T rs146174812 SPATA41 0 0 0.02 0 0 0 0 6 0 0 0 0 8.819 233890 chr2 88885526 88885526 G T rs765173142 EIF2AK3 Nonsynonymous SNV Q344K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 233891 chr8 133107789 133107789 T C rs192253377 HHLA1 Nonsynonymous SNV N142S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.596 233892 chr15 24921835 24921835 A G rs200204213 NPAP1 Nonsynonymous SNV Q274R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 233893 chr15 25436496 25436496 C T rs1039164609 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.393 233894 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGT SKA3 0 0.003 0 0 0 1 0 0 0 0 0 0 233895 chr2 101898375 101898375 G A rs537008842 RNF149 Nonsynonymous SNV P369S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.378 233896 chr8 143618370 143618370 G A rs538717434 ADGRB1 Nonsynonymous SNV R1198H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 233897 chr15 40565665 40565665 G A rs148062077 BUB1B-PAK6, PAK6 Nonsynonymous SNV D537N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 233898 chr20 60928119 60928119 C T LAMA5-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.724 233899 chr11 1260785 1260785 C G MUC5B Nonsynonymous SNV P1191R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.54 233900 chr11 1260786 1260786 T G MUC5B Synonymous SNV P1191P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.721 233901 chr15 41819100 41819100 C T rs147818852 RPAP1 Nonsynonymous SNV R638Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 233902 chr2 128627036 128627036 T G rs144161324 AMMECR1L Nonsynonymous SNV K239T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.97 233903 chr15 43026167 43026167 C T CDAN1 Nonsynonymous SNV D446N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 233904 chr21 16340085 16340085 C A rs779828629 NRIP1 Nonsynonymous SNV R143S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 233905 chr14 99988551 99988551 C T rs775711049 CCDC85C Synonymous SNV T298T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 233906 chr21 31692092 31692092 C T rs139698291 KRTAP26-1 Nonsynonymous SNV V88M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.2 233907 chr11 19735212 19735212 G C rs554420610 LOC100126784 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.2 233908 chr2 160688254 160688254 A T LY75, LY75-CD302 Nonsynonymous SNV N1295K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 233909 chr19 1059056 1059056 G A rs114782266 ABCA7 Nonsynonymous SNV R1812H 0.004 0 0 1 5 0 0.003 0 0 0 0 0 21.8 233910 chr15 65883973 65883973 T C rs535975601 INTS14 Synonymous SNV P282P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.927 233911 chr11 27401856 27401856 C G rs138266389 LGR4 Nonsynonymous SNV Q287H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.83 233912 chr14 105174055 105174055 G A rs201323100 INF2 Nonsynonymous SNV C484Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.983 233913 chr15 66793813 66793813 G A rs763591992 RPL4 Synonymous SNV G192G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 233914 chr15 67709328 67709328 G A rs200883833 IQCH Synonymous SNV Q312Q 0 0 0.007 0 0 0 0 2 0 0 0 0 6.413 233915 chr8 22458457 22458457 C G rs145988500 C8orf58 Nonsynonymous SNV R35G 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 27.1 233916 chr15 67813744 67813744 T C rs187386601 C15orf61 Nonsynonymous SNV V53A 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 233917 chr21 41559844 41559844 C T rs764201209 DSCAM Nonsynonymous SNV R875H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 233918 chr15 71146292 71146292 G A rs550545328 LARP6 Nonsynonymous SNV P46S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 233919 chr19 1122190 1122190 C T SBNO2 Nonsynonymous SNV R309H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 233920 chr15 71535077 71535077 C T rs200233214 THSD4 Nonsynonymous SNV T185M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.73 233921 chr8 26722295 26722295 G A rs139291747 ADRA1A Synonymous SNV Y64Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.057 233922 chr19 13323215 13323215 T C CACNA1A Nonsynonymous SNV S2059G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.72 233923 chr19 13325090 13325090 C T rs199886234 CACNA1A Nonsynonymous SNV R1967Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 233924 chr15 75932364 75932364 T A IMP3 Nonsynonymous SNV N49I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 233925 chr19 1506219 1506219 C T rs78485538 ADAMTSL5 Nonsynonymous SNV R404Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 233926 chr19 15758045 15758045 C T rs777644178 CYP4F3 Nonsynonymous SNV R146C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 233927 chr15 91455446 91455446 C T rs745905771 MAN2A2 Synonymous SNV S761S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 233928 chr16 10032264 10032264 C T rs751692867 GRIN2A Nonsynonymous SNV V187I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 9.357 233929 chr16 10775849 10775849 C T rs748580746 TEKT5 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 233930 chr16 111419 111419 G A rs540050211 RHBDF1 Synonymous SNV Y453Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.667 233931 chr16 11913774 11913774 C A BCAR4 0 0 0.003 0 0 0 0 1 0 0 0 0 6.568 233932 chr8 97256208 97256208 G A rs762448558 MTERF3 Nonsynonymous SNV T333M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 233933 chr8 99042781 99042781 T C MATN2 Synonymous SNV Y775Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.835 233934 chr16 1435247 1435247 G A rs550441093 UNKL Nonsynonymous SNV P409L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 233935 chr22 32009730 32009730 G A rs202212374 SFI1 Nonsynonymous SNV R907H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.037 233936 chr22 32831830 32831830 G C rs73884913 BPIFC Nonsynonymous SNV P262R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.2 233937 chr22 32894260 32894260 C T rs757568839 FBXO7 Nonsynonymous SNV R359C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.5 233938 chr9 113169797 113169797 G T SVEP1 Nonsynonymous SNV P2695T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 233939 chr7 158835783 158835783 G A rs141543624 VIPR2 Synonymous SNV D164D 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.395 233940 chr16 28507258 28507258 A C rs73533478 APOBR Nonsynonymous SNV E299A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.465 233941 chr16 28834769 28834769 C T rs1140131 ATXN2L Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 233942 chr16 28912085 28912085 G A rs74573581 ATP2A1 Nonsynonymous SNV D525N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.7 233943 chr22 42608254 42608254 G A rs771718874 TCF20 Nonsynonymous SNV P1020S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 233944 chr16 29810471 29810471 G A rs550717370 KIF22 Nonsynonymous SNV R174H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 233945 chr16 30016663 30016663 C T rs369781536 INO80E Nonsynonymous SNV T173M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 233946 chr16 30196569 30196569 C T rs746458724 CORO1A Synonymous SNV H13H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 233947 chr16 30673774 30673774 G A rs138939046 FBRS Nonsynonymous SNV V247I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 233948 chr16 30727482 30727482 G A rs151062043 SRCAP Synonymous SNV K863K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.01 233949 chr16 30793169 30793169 T A rs61741652 ZNF629 Nonsynonymous SNV H827L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.14 233950 chr9 123298741 123298741 G A CDK5RAP2 Nonsynonymous SNV L191F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 233951 chr7 27195930 27195930 T C rs760595034 HOXA7 Nonsynonymous SNV N79D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 233952 chr14 77580082 77580082 T C rs775635738 CIPC Synonymous SNV A207A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.058 233953 chr16 31341129 31341129 T C rs771233707 ITGAM Nonsynonymous SNV L960P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 233954 chr16 3293447 3293447 C G rs28940580 MEFV Nonsynonymous SNV M680I 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 0.002 233955 chr14 89338773 89338773 A T TTC8 Nonsynonymous SNV M402L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 233956 chr2 238274488 238274488 C T rs762064645 COL6A3 Synonymous SNV P1290P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.127 233957 chr14 90764624 90764624 C A NRDE2 Nonsynonymous SNV G549V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 233958 chr22 50169770 50169770 G A rs9628129 BRD1 Synonymous SNV A1048A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 2.55 233959 chr9 128103476 128103476 C T rs11794365 GAPVD1 Synonymous SNV S945S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 20.8 233960 chr22 50279941 50279941 C T rs115601990 ZBED4 Synonymous SNV Y877Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.18 233961 chr22 50470164 50470164 G T TTLL8 Nonsynonymous SNV A569D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 233962 chr22 50484329 50484329 C T rs17013076 TTLL8 Nonsynonymous SNV R191H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 233963 chr22 50487683 50487683 C T rs113127908 TTLL8 Nonsynonymous SNV V123M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 233964 chr22 50537980 50537980 G A rs140532446 MOV10L1 Nonsynonymous SNV A131T 0.003 0.008 0.007 0 4 3 0 2 0 0 0 0 10.16 233965 chr16 48232148 48232148 A G rs199946345 ABCC11 Synonymous SNV N707N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.067 233966 chr9 130863590 130863590 C T rs35473740 SLC25A25 Nonsynonymous SNV R131C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 233967 chr22 50682879 50682879 T C rs61736756 TUBGCP6 Nonsynonymous SNV I4V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.8 233968 chr9 131183226 131183226 G A rs561749416 CERCAM Nonsynonymous SNV G24S 0.003 0 0 0 3 0 0 0 0 0 0 0 3.955 233969 chr22 50944529 50944529 T C rs147692032 LMF2 Nonsynonymous SNV I212V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.23 233970 chr22 50987990 50987990 G A rs77297390 KLHDC7B Synonymous SNV R1106R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 233971 chr16 57597830 57597830 A G ADGRG5 Nonsynonymous SNV K123R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 233972 chr16 57693376 57693376 C T rs7198790 ADGRG1 Synonymous SNV A451A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.1 233973 chrX 9900348 9900348 C T rs200219705 SHROOM2 Nonsynonymous SNV R1009W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 233974 chr9 134343107 134343107 C T PRRC2B Synonymous SNV P626P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 233975 chr15 28431807 28431807 C T rs566182373 HERC2 Nonsynonymous SNV R2914H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 233976 chr9 135202076 135202076 C T SETX Nonsynonymous SNV V1637I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.823 233977 chrX 20030470 20030470 A T rs764596048 MAP7D2 Nonsynonymous SNV V604E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 233978 chr16 66918317 66918317 C T rs1015202166 PDP2 Nonsynonymous SNV R44W 0 0 0.003 0 0 0 0 1 0 0 0 0 6.278 233979 chrX 31089749 31089749 C G FTHL17 Nonsynonymous SNV E108Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 233980 chr16 67984590 67984590 C T SLC12A4 Nonsynonymous SNV G476D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 233981 chr9 139409969 139409969 G A rs376726823 NOTCH1 Synonymous SNV N623N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.71 233982 chr3 33195264 33195264 C T rs75287757 SUSD5 Nonsynonymous SNV R287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.884 233983 chr19 4511029 4511029 G A rs533249881 PLIN4 Synonymous SNV T981T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.164 233984 chr16 71674430 71674430 G A rs200541338 MARVELD3 Nonsynonymous SNV E245K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 233985 chr16 77822786 77822786 C G rs765991842 VAT1L Synonymous SNV G69G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 233986 chr19 46476550 46476550 G C NOVA2 Synonymous SNV V20V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 233987 chr16 4384817 4384817 C T rs769466452 GLIS2 Nonsynonymous SNV R121C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 233988 chr9 17166890 17166890 G T rs911547363 CNTLN Nonsynonymous SNV C175F 0.002 0 0 0 2 0 0 0 0 0 0 0 1.812 233989 chr16 5097882 5097882 G A rs148712817 C16orf89 Nonsynonymous SNV P318S 0.006 0.005 0 0 7 2 0 0 0 0 0 0 1.935 233990 chr16 5105306 5105306 C T rs201761749 C16orf89 Nonsynonymous SNV R270Q 0.006 0.005 0 0 7 2 0 0 0 0 0 0 21.4 233991 chr15 54307600 54307600 C T rs372140182 UNC13C Nonsynonymous SNV R834W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 233992 chr15 58840586 58840586 C T rs121912502 LIPC Nonsynonymous SNV S289F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.5 233993 chrX 140995209 140995209 A G rs765392024 MAGEC1 Synonymous SNV Q673Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 233994 chr19 50309441 50309441 G A rs771697349 AP2A1 Synonymous SNV A907A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 233995 chr15 65780053 65780053 T C rs142093539 DPP8 Synonymous SNV A310A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.396 233996 chrX 153689036 153689036 C T rs140484283 PLXNA3 Synonymous SNV V171V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.685 233997 chr16 89350994 89350994 C T ANKRD11 Synonymous SNV L652L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.28 233998 chr16 9916146 9916146 C T GRIN2A Nonsynonymous SNV D715N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 233999 chr9 79117703 79117703 C T rs150529677 GCNT1 Nonsynonymous SNV L136F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.782 234000 chr8 130777995 130777995 C T rs16904151 GSDMC Nonsynonymous SNV R150K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.001 234001 chr17 1375260 1375260 G A rs780167120 MYO1C Synonymous SNV N654N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 234002 chr3 58260447 58260447 G A rs764884963 ABHD6 Nonsynonymous SNV A196T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.784 234003 chr17 17069734 17069734 C T MPRIP Nonsynonymous SNV A1642V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.289 234004 chr17 17699009 17699009 C T RAI1 Nonsynonymous SNV S916F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 234005 chr1 7895885 7895885 G T PER3 Nonsynonymous SNV G1093V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 234006 chr17 18025592 18025592 C T rs533897442 MYO15A Nonsynonymous SNV R1160W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 234007 chr1 9427513 9427513 C T rs771430034 SPSB1 Nonsynonymous SNV P234L 0.002 0 0 0 2 0 0 0 0 0 0 0 35 234008 chr3 97852301 97852304 CCCC - OR5H1 P254Ffs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 234009 chr3 97852304 97852304 - GGGG OR5H1 Frameshift insertion L255Rfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 234010 chr1 11346186 11346186 T A rs754534104 UBIAD1 X339K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 234011 chr1 11806255 11806255 G A rs376864804 AGTRAP Nonsynonymous SNV R45Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.808 234012 chrX 10102554 10102554 G A rs140383059 WWC3 Nonsynonymous SNV R894Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 234013 chr15 89836024 89836024 G A rs199615501 FANCI Nonsynonymous SNV E700K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.8 234014 chrX 124455321 124455321 G A rs182081365 TEX13C Synonymous SNV E451E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.926 234015 chr17 2598161 2598161 C T rs374551796 CLUH Nonsynonymous SNV D948N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.053 234016 chrX 129349807 129349807 C A ZNF280C Nonsynonymous SNV R599L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 234017 chr8 144993982 144993982 G A rs199950917 PLEC Nonsynonymous SNV T3322M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.2 234018 chrX 139586239 139586239 G A SOX3 Synonymous SNV A329A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.574 234019 chr17 29421443 29421443 C T rs17885221 MIR4733 0 0 0.014 0 0 0 0 4 0 0 0 0 10.27 234020 chr8 145114921 145114921 C T OPLAH Synonymous SNV E5E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.893 234021 chr17 31618972 31618972 G A rs200384167 ASIC2 Synonymous SNV A54A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.644 234022 chr19 56372807 56372807 G A rs143589259 NLRP4 Nonsynonymous SNV G638R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.624 234023 chrX 153694088 153694088 A G PLXNA3 Synonymous SNV S810S 0.001 0 0.007 0 1 0 0 2 0 0 1 0 3.722 234024 chrX 153716733 153716733 C T rs782131870 SLC10A3 Nonsynonymous SNV D183N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 234025 chrX 15373305 15373305 A G VEGFD Nonsynonymous SNV I203T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 234026 chr8 15531276 15531276 - A TUSC3 Frameshift insertion S244Ifs*16 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 234027 chr8 15531278 15531280 CTG - TUSC3 S244_G245delinsC 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 234028 chr17 3627659 3627659 G C rs768907270 HASPIN Nonsynonymous SNV G144R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 234029 chrX 19606876 19606876 C T rs149782443 SH3KBP1 Nonsynonymous SNV V157I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 234030 chr19 5727309 5727309 C T rs78781569 CATSPERD Nonsynonymous SNV R53C 0.003 0 0 0 3 0 0 0 0 0 0 0 16.84 234031 chr19 57642610 57642610 A G rs117302403 USP29 Nonsynonymous SNV Y856C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.5 234032 chr17 37872145 37872145 C T rs142456637 ERBB2 Nonsynonymous SNV P489L 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Uncertain significance 34 234033 chr16 19184784 19184784 G A rs199613222 SYT17 Synonymous SNV L18L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.346 234034 chr16 19553259 19553259 G T rs201715206 CCP110 Synonymous SNV A700A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.309 234035 chr19 5827770 5827770 C G rs143772327 NRTN Synonymous SNV L60L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.836 234036 chr19 5827779 5827779 G C rs151082251 NRTN Synonymous SNV G63G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.472 234037 chr16 85132160 85132160 G A FAM92B Nonsynonymous SNV T294I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.448 234038 chr3 129195644 129195644 G A IFT122 Nonsynonymous SNV V272I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 234039 chrX 48650391 48650391 G A rs200509606 GATA1 Nonsynonymous SNV V121M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.398 234040 chr8 23049343 23049343 G A rs145301145 TNFRSF10A Nonsynonymous SNV S424L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 234041 chr19 618538 618538 G T rs144932030 POLRMT Synonymous SNV I1124I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.334 234042 chr19 621784 621784 C T rs766877795 POLRMT Synonymous SNV T638T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 234043 chr19 6230662 6230662 G A rs2233189 MLLT1 Synonymous SNV P113P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.985 234044 chr17 39506965 39506965 G A rs143678209 KRT33A Nonsynonymous SNV R19W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 234045 chr19 6418791 6418791 G T rs75538556 KHSRP Synonymous SNV T234T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.957 234046 chr8 25181402 25181402 G C DOCK5 Nonsynonymous SNV V552L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 234047 chrX 71380032 71380032 C T FLJ44635 Nonsynonymous SNV P118L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 234048 chr16 29675097 29675097 C T rs556201400 SPN Synonymous SNV D16D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.6 234049 chr3 137717787 137717787 G T CLDN18 Nonsynonymous SNV C26F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 234050 chr17 40688462 40688462 G C NAGLU Nonsynonymous SNV A58P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 234051 chr10 101089247 101089247 C T rs527685732 CNNM1 Nonsynonymous SNV P35S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 234052 chr12 132471159 132471159 G T rs774393657 EP400 Nonsynonymous SNV G677V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 22.4 234053 chr12 132633394 132633394 G A rs367672862 NOC4L Synonymous SNV A285A 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 5.177 234054 chr16 31388554 31388554 G A rs144021451 ITGAX Synonymous SNV P919P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.326 234055 chr8 42958842 42958842 G C POMK Nonsynonymous SNV D51H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.574 234056 chr17 43011347 43011347 C T rs778597095 KIF18B Nonsynonymous SNV E336K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 29 234057 chr17 44846055 44846055 G A rs1056020035 WNT3 Synonymous SNV F233F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.111 234058 chr3 164735623 164735623 T C rs773362089 SI Nonsynonymous SNV T1187A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 234059 chr17 4841129 4841129 C T rs566786695 SLC25A11 Synonymous SNV P233P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 234060 chr17 48595029 48595029 G A MYCBPAP Synonymous SNV K161K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 234061 chr17 4904556 4904556 C T rs201085674 KIF1C Nonsynonymous SNV R75W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 234062 chr1 50887044 50887044 T C rs534136697 DMRTA2 Synonymous SNV P55P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.894 234063 chr19 918632 918632 C T rs142810073 KISS1R Synonymous SNV G111G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.33 234064 chr16 67200235 67200235 C T rs375017943 HSF4 Synonymous SNV I166I 0 0.005 0 0 0 2 0 0 0 0 0 0 16.8 234065 chr19 9578460 9578460 G A rs146030501 ZNF560 Nonsynonymous SNV P282L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 234066 chr16 68598493 68598493 A C ZFP90 Nonsynonymous SNV R601S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 234067 chr17 7851279 7851279 C T CNTROB Synonymous SNV L731L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.527 234068 chr17 655919 655919 C G DBIL5P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.489 234069 chr16 81208497 81208497 A C rs769156083 PKD1L2 Nonsynonymous SNV V184G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.15 234070 chr17 10543440 10543440 G A rs763698464 MYH3 Nonsynonymous SNV T852I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 234071 chr1 114948210 114948210 T C rs115508967 TRIM33 Nonsynonymous SNV I864V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.778 234072 chr17 16526349 16526349 G A rs767446176 ZNF624 Synonymous SNV C617C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.372 234073 chr1 116280882 116280902 GATGTAGTCTTCAATGCGTTC - CASQ2 E159_I165del 0.001 0 0 0 1 0 0 0 0 0 0 0 234074 chr17 19610041 19610041 G A rs150225670 SLC47A2 Nonsynonymous SNV P254L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 234075 chr1 12318098 12318098 G A VPS13D Nonsynonymous SNV V350I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.035 234076 chr1 99418806 99418806 C T PLPPR5 Synonymous SNV L147L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.11 234077 chr1 101196776 101196776 C T rs749566790 VCAM1 Synonymous SNV I317I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.17 234078 chr17 7556811 7556811 G A rs375583930 ATP1B2 Nonsynonymous SNV A78T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 234079 chr9 130830650 130830650 G A SLC25A25 Nonsynonymous SNV A18T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 234080 chr17 76421506 76421509 GACA - rs760598333 DNAH17 V4354Rfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 234081 chr17 76563241 76563241 T G rs572113565 DNAH17 Nonsynonymous SNV Y431S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 234082 chr17 78023948 78023948 A G rs201057426 CCDC40 Nonsynonymous SNV Q342R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 234083 chr17 34073191 34073191 G T rs144556689 GAS2L2 Nonsynonymous SNV A442D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 234084 chr1 117307158 117307158 C T rs376275078 CD2 Synonymous SNV L248L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.032 234085 chr17 79827380 79827380 - GGGGCCGCCCGGACCCCC rs764293700 ARHGDIA G105_G106insVRAAPG 0 0 0.003 0 0 0 0 1 0 0 0 0 234086 chr4 57221392 57221392 C T rs183686598 AASDH Nonsynonymous SNV R12Q 0.003 0 0 0 3 0 0 0 0 0 0 0 15.24 234087 chr10 61829940 61829940 A G rs755295217 ANK3 Nonsynonymous SNV F3567L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 234088 chr9 138774741 138774741 G A rs200053266 CAMSAP1 Nonsynonymous SNV S115F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.6 234089 chr1 157667552 157667552 A G rs957725667 FCRL3 Synonymous SNV N152N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 234090 chr17 8411891 8411891 C T rs900287249 MYH10 Synonymous SNV V1034V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 234091 chr17 8638536 8638536 T A rs780725519 CCDC42 Stop gain K177X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 234092 chr18 10455020 10455020 G A APCDD1 Synonymous SNV P14P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 234093 chr1 159175551 159175551 C T ACKR1 Nonsynonymous SNV L110F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 234094 chr18 30977173 30977173 C T rs761995920 CCDC178 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 234095 chr1 16256215 16256215 C T rs148562896 SPEN Synonymous SNV G1160G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.33 234096 chr1 156514261 156514261 G A rs1078890 IQGAP3 Nonsynonymous SNV H770Y 0.002 0 0 0 2 0 0 0 0 0 0 0 6.953 234097 chr17 27903134 27903134 C T GIT1 Nonsynonymous SNV A543T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.09 234098 chr18 5397409 5397409 G A rs771374021 EPB41L3 Nonsynonymous SNV T608M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 234099 chr17 29203493 29203493 T C rs555255925 ATAD5 Synonymous SNV L1237L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 3.034 234100 chr17 32964969 32964969 C T rs375307089 TMEM132E Synonymous SNV S981S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.28 234101 chr18 66348343 66348343 A G TMX3 Synonymous SNV L163L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 234102 chr18 66504207 66504207 T C rs371049398 CCDC102B Synonymous SNV I69I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.504 234103 chr9 35906583 35906583 - CCACCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPHHTPHHLHHHHHHHPH 0 0 0 1 0 0 0.003 0 0 0 0 0 234104 chr1 161145829 161145829 G A rs369059528 B4GALT3 Nonsynonymous SNV R8W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 234105 chr17 36909444 36909444 G A rs151259265 PSMB3 Synonymous SNV K15K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.86 234106 chr1 17764763 17764763 A G rs200660338 RCC2 Nonsynonymous SNV V83A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 234107 chr18 8784246 8784246 C T rs746035252 MTCL1 Nonsynonymous SNV A379V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 234108 chr1 166818939 166818939 C T POGK Nonsynonymous SNV R257W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 234109 chr17 38445690 38445690 C A rs143031736 CDC6 Synonymous SNV S6S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.27 234110 chr17 39620632 39620632 G A rs147094229 KRT32 Nonsynonymous SNV P258S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 234111 chr1 19166997 19166997 G A rs199701205 TAS1R2 Nonsynonymous SNV P539L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 234112 chr17 72588217 72588217 C T rs68124408 C17orf77 Nonsynonymous SNV T11I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.42 234113 chr17 72608861 72608861 G A rs148834619 CD300E Synonymous SNV P183P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.189 234114 chr17 39967797 39967797 G A rs370335745 P3H4 Nonsynonymous SNV P124L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 234115 chr17 40557149 40557149 C G rs150258613 CAVIN1 Nonsynonymous SNV K243N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 234116 chr17 40761279 40761279 G A rs145518918 RETREG3 Nonsynonymous SNV R22C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 234117 chr17 40815420 40815420 T C rs143138901 TUBG2 Nonsynonymous SNV Y169H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 234118 chr17 43213918 43213918 A C rs768835046 ACBD4 Nonsynonymous SNV K47T 0 0.003 0 0 0 1 0 0 0 0 0 0 26 234119 chr11 113146082 113146082 G C rs377426912 NCAM1 Nonsynonymous SNV Q840H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.08 234120 chr13 95114265 95114265 T A rs201520554 DCT Nonsynonymous SNV R37W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 234121 chr1 201180865 201180865 G A rs780791835 IGFN1 Nonsynonymous SNV D2282N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.137 234122 chr17 47246107 47246107 G C rs749638537 B4GALNT2 Nonsynonymous SNV G387A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.7 234123 chr19 17945495 17945495 C T rs149207170 JAK3 Synonymous SNV P745P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.14 234124 chr19 18378161 18378161 C T IQCN Synonymous SNV E63E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.832 234125 chr19 1854544 1854544 T C rs932044433 KLF16 Nonsynonymous SNV T225A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 234126 chr19 21476341 21476341 T C rs150636088 ZNF708 Nonsynonymous SNV Y412C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.8 234127 chrX 34149611 34149611 C G rs761415324 FAM47A Nonsynonymous SNV R262P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.07 234128 chr5 35771780 35771780 A C SPEF2 Nonsynonymous SNV K1291Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 234129 chr14 105404980 105404980 C T AHNAK2 Nonsynonymous SNV C5503Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 234130 chr17 79667828 79667828 A C HGS Nonsynonymous SNV Q707P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 234131 chr17 80022819 80022819 G A DUS1L Synonymous SNV H39H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.62 234132 chr1 215972337 215972337 A G rs777030678 USH2A Synonymous SNV H3290H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.585 234133 chr5 43492896 43492896 C T rs762173212 C5orf34 Nonsynonymous SNV V471I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 234134 chr5 50683550 50683550 C G rs772015386 ISL1 Nonsynonymous SNV P149A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 234135 chr1 218520279 218520279 A G rs371241859 TGFB2 Nonsynonymous SNV Q79R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.64 234136 chrX 70836318 70836318 C T CXCR3 Nonsynonymous SNV R382H 0 0 0 1 0 0 0.003 0 0 0 0 0 22 234137 chr18 6171870 6171870 G A rs369477616 L3MBTL4 Synonymous SNV I351I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 234138 chr19 35435542 35435542 C T ZNF30 Nonsynonymous SNV H559Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 234139 chr17 65362585 65362585 C T rs753148472 PSMD12 Synonymous SNV E17E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.81 234140 chr14 23945352 23945352 G A rs762752866 NGDN Nonsynonymous SNV V179I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 234141 chr1 228511143 228511143 G A OBSCN Nonsynonymous SNV G5163E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 234142 chr18 20965016 20965016 G T rs900596161 TMEM241 Nonsynonymous SNV L99I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 234143 chr1 229661718 229661718 T C ABCB10 Nonsynonymous SNV N624S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.49 234144 chr18 24128182 24128182 G A rs745733313 KCTD1 Nonsynonymous SNV P107S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.1 234145 chr19 38189389 38189389 A G rs145573052 ZNF607 Nonsynonymous SNV L547P 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 234146 chr19 38910633 38910633 C G rs754222225 RASGRP4 Nonsynonymous SNV G177A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 234147 chr10 112661331 112661331 A G BBIP1 Nonsynonymous SNV V4A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.327 234148 chr11 20112541 20112541 C T rs772740145 NAV2 Nonsynonymous SNV R941W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 234149 chr10 118638853 118638853 A T rs200148824 ENO4 Nonsynonymous SNV D530V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 234150 chr1 2435632 2435632 C T rs559308611 PLCH2 Synonymous SNV D1077D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.775 234151 chr19 42874440 42874440 A G rs142042363 MEGF8 Nonsynonymous SNV I2245V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.004 234152 chr10 124897153 124897153 C G rs939257736 HMX3 Nonsynonymous SNV P327R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 234153 chr19 44932910 44932910 - T rs560495393 ZNF229 Frameshift insertion P677Afs*5 0 0 0.007 1 0 0 0.003 2 0 0 0 0 234154 chr5 137213210 137213210 G A rs150293853 MYOT Nonsynonymous SNV R178H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 234155 chr19 45575134 45575134 C T rs148109367 ZNF296 Nonsynonymous SNV G385R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 234156 chr5 137727232 137727232 C T rs750140516 KDM3B Synonymous SNV F637F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.758 234157 chr5 138209514 138209514 A G rs540627474 LRRTM2 Nonsynonymous SNV C246R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 234158 chr19 47126807 47126807 G T rs138619017 PTGIR Nonsynonymous SNV P226T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 234159 chr17 79096125 79096125 G A rs769544119 AATK Synonymous SNV A434A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.47 234160 chr5 140203285 140203285 C T rs144257451 PCDHA5 Nonsynonymous SNV P642L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.67 234161 chr2 24240390 24240390 G A rs200479309 MFSD2B Nonsynonymous SNV G205S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.079 234162 chr5 140736053 140736053 C T rs978605314 PCDHGA4 Nonsynonymous SNV T460I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.206 234163 chr5 140755333 140755333 G T rs754916018 PCDHGA6 Nonsynonymous SNV E561D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.31 234164 chr17 79662204 79662204 C T rs374793793 HGS Nonsynonymous SNV P377L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 234165 chr5 141053350 141053350 G T rs201192030 ARAP3 Synonymous SNV R242R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.19 234166 chr19 48806032 48806032 T C rs764915470 CCDC114 Nonsynonymous SNV M350V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 234167 chr1 29481221 29481221 G T rs754976488 SRSF4 Synonymous SNV R189R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 234168 chr17 80544054 80544054 - GGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGG FOXK2 Frameshift insertion V526Gfs*129 0 0.003 0 0 0 1 0 0 0 0 0 0 234169 chr10 412302 412302 C T rs747326178 DIP2C Synonymous SNV T727T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 11.83 234170 chr19 50165361 50165361 G A rs566321486 IRF3 Nonsynonymous SNV R130W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 234171 chr1 36921847 36921847 G C rs201522148 MRPS15 Nonsynonymous SNV P193A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 234172 chr1 37346428 37346428 A G rs550250 GRIK3 Synonymous SNV N119N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.556 234173 chr19 50918150 50918150 C T rs376946722 POLD1 Nonsynonymous SNV R849C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 234174 chr19 51485689 51485689 C T rs62115740 KLK7 Nonsynonymous SNV A32T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.382 234175 chr10 50678695 50678695 T C rs558274645 ERCC6 Nonsynonymous SNV N1104S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 234176 chr19 52249375 52249375 G A FPR1 Synonymous SNV F291F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 234177 chr18 32834324 32834324 T C rs747107824 ZNF397, ZSCAN30 Nonsynonymous SNV K5R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.098 234178 chr2 61304280 61304280 G A rs776752192 KIAA1841 Synonymous SNV E73E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.51 234179 chr5 175957643 175957643 C T rs143954446 RNF44 Synonymous SNV P247P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.62 234180 chr5 176520484 176520484 C T FGFR4 Nonsynonymous SNV P392L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.42 234181 chr16 22358780 22358780 G A CDR2 Synonymous SNV L291L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.332 234182 chr18 45566811 45566811 C T rs148093158 ZBTB7C Nonsynonymous SNV R223Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 234183 chr10 70645791 70645791 G A rs542531760 STOX1 Nonsynonymous SNV D747N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.68 234184 chr19 54940519 54940519 A G TTYH1 Nonsynonymous SNV S257G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 234185 chr2 71788954 71788954 C T rs938112009 DYSF Synonymous SNV T731T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.57 234186 chr10 71905346 71905346 C A TYSND1 Nonsynonymous SNV G333C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.19 234187 chr16 2849494 2849494 C T rs374323400 PRSS41 Synonymous SNV I168I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.853 234188 chr2 74689711 74689711 A G rs772354380 MOGS Nonsynonymous SNV I402T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.6 234189 chr19 55870487 55870487 T C rs566160762 FAM71E2 Synonymous SNV G583G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.007 234190 chr2 86364653 86364653 A G rs2241433 PTCD3 Nonsynonymous SNV S681G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.9 234191 chr19 56133298 56133298 G T rs149184723 ZNF784 Nonsynonymous SNV S264Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 234192 chr19 56133299 56133299 A T rs142467111 ZNF784 Nonsynonymous SNV S264T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 234193 chr2 86400791 86400791 T C rs59649940 IMMT Nonsynonymous SNV T135A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 234194 chr19 5684055 5684055 C T rs1054173078 HSD11B1L Synonymous SNV L4L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.674 234195 chr19 56901781 56901781 G A rs377653896 ZNF582 Synonymous SNV D64D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 234196 chr2 97276544 97276544 G T rs748810614 KANSL3 Nonsynonymous SNV P185H 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 234197 chr2 98349463 98349463 C T rs200278286 ZAP70 Synonymous SNV T227T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.04 234198 chr19 58880090 58880090 C T rs535336284 ZNF837 Nonsynonymous SNV E204K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.914 234199 chr6 27861465 27861465 T G rs139246004 H2BC17 Synonymous SNV A75A 0.006 0 0 0 7 0 0 0 0 0 0 0 2.513 234200 chr6 27861468 27861468 C T rs142034002 H2BC17 Synonymous SNV G76G 0.006 0 0 0 7 0 0 0 0 0 0 0 11.83 234201 chr19 651671 651671 C T rs773633393 RNF126 Nonsynonymous SNV R128H 0 0 0.007 0 0 0 0 2 0 0 0 0 35 234202 chr15 65917782 65917782 T C rs1020832314 SLC24A1 Nonsynonymous SNV V455A 0 0.003 0 0 0 1 0 0 0 0 0 0 23 234203 chr19 10625520 10625520 G T S1PR5 Synonymous SNV A56A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.516 234204 chr2 135711292 135711292 A C rs756574366 CCNT2 Nonsynonymous SNV I423L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.033 234205 chr2 136566543 136566543 C T rs768360615 LCT Nonsynonymous SNV S1125N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.035 234206 chr19 12146500 12146500 C A rs184413618 ZNF433-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 9.86 234207 chr11 637334 637334 C T rs12720386 DRD4 Synonymous SNV D10D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.54 234208 chr19 12769110 12769110 C T rs112829030 MAN2B1 Synonymous SNV Q386Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.44 234209 chr6 44229546 44229546 C T rs766668854 NFKBIE Nonsynonymous SNV A170T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 234210 chr19 14104534 14104534 G A rs547715748 RFX1 Nonsynonymous SNV P41L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.05 234211 chr19 14507976 14507976 G A rs141404743 ADGRE5 Nonsynonymous SNV R189H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 234212 chr19 9226278 9226278 G T OR7G1 Nonsynonymous SNV H54Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 234213 chr19 15052711 15052711 C T rs201572109 OR7C2 Synonymous SNV N137N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.036 234214 chr11 108057293 108057293 T C NPAT Synonymous SNV E214E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.288 234215 chr6 51921714 51921714 T C rs142608481 PKHD1 Nonsynonymous SNV I526V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.157 234216 chr20 33330186 33330186 T C rs775658709 NCOA6 Nonsynonymous SNV M1292V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 234217 chr19 17622733 17622733 C T PGLS Synonymous SNV P84P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 234218 chr19 22155388 22155388 C T rs373773330 ZNF208 Synonymous SNV K816K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.295 234219 chr19 17834940 17834940 C T rs369085181 MAP1S Nonsynonymous SNV R50W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 234220 chr11 121031032 121031032 C T rs151056317 TECTA Synonymous SNV N1626N 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 13.22 234221 chr1 119683263 119683263 G A WARS2 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234222 chr2 187558934 187558934 C G FAM171B Nonsynonymous SNV L12V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 234223 chr1 12198375 12198375 G T rs755207420 TNFRSF8 Synonymous SNV V363V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.699 234224 chr11 71932527 71932527 C T rs749508992 FOLR2 Synonymous SNV C163C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 234225 chr11 72945745 72945745 G A rs143651403 P2RY2 Nonsynonymous SNV V181I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 234226 chr19 35514165 35514165 G A rs750870899 GRAMD1A Nonsynonymous SNV V616I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.74 234227 chr19 19655932 19655932 C G rs764549556 CILP2 Nonsynonymous SNV R860G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 234228 chr19 2249682 2249682 - CTGGGGGCCTGGCTGCGGGACC AMH Frameshift insertion Q128Lfs*53 0 0.003 0 0 0 1 0 0 0 0 0 0 234229 chr1 150258862 150258862 T A CIART Nonsynonymous SNV S218R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.016 234230 chr19 36602194 36602194 C T rs978607917 OVOL3 Synonymous SNV I30I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 234231 chr20 52789534 52789534 G C rs750735792 CYP24A1 Synonymous SNV T121T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.27 234232 chr2 207620126 207620126 C T MDH1B Nonsynonymous SNV A75T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.006 234233 chr1 152944398 152944398 A G rs371393508 SPRR4 Nonsynonymous SNV Q11R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.121 234234 chr19 33697045 33697045 C A LRP3 Nonsynonymous SNV P457T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 234235 chr19 39299582 39299582 G A rs140167180 LGALS4 Synonymous SNV F47F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 234236 chr1 155159990 155159990 C T rs373081136 MUC1 Nonsynonymous SNV A96T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234237 chr19 41074098 41074098 T C rs780183624 SPTBN4 Nonsynonymous SNV M2289T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 234238 chr6 147006901 147006901 C T ADGB Synonymous SNV V416V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 234239 chr1 162325085 162325085 G A rs780159734 NOS1AP Nonsynonymous SNV R230Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 234240 chr12 109522830 109522830 C T rs200633278 USP30 Nonsynonymous SNV T414M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 234241 chr19 46294256 46294256 G A rs763669029 DMWD Synonymous SNV T177T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 234242 chr16 50359764 50359764 G T rs893253395 BRD7 Nonsynonymous SNV S409Y 0 0.003 0 0 0 1 0 0 0 0 0 0 32 234243 chr19 41239111 41239111 C T rs139491097 ITPKC Nonsynonymous SNV P506S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 234244 chr2 238275732 238275732 T C rs775672241 COL6A3 Nonsynonymous SNV R1093G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.58 234245 chr1 173836843 173836844 CT - rs747926353 SNORD74 0 0 0.003 0 0 0 0 1 0 0 0 0 234246 chr1 175086212 175086212 G A rs764497307 TNN Nonsynonymous SNV V753I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.144 234247 chr19 42373111 42373111 G A rs782727047 RPS19 Nonsynonymous SNV A66T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.89 234248 chr12 120151401 120151401 G A rs769742796 CIT Synonymous SNV C1411C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.055 234249 chr1 176668562 176668562 T C rs373007309 PAPPA2 Nonsynonymous SNV F1025L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 234250 chr19 43093827 43093827 G A rs369717621 CEACAM8 Nonsynonymous SNV A162V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.759 234251 chr2 241872663 241872663 G A rs746931364 CROCC2 Nonsynonymous SNV R456Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.072 234252 chr2 242617882 242617882 C T rs150300178 DTYMK Synonymous SNV T128T 0.003 0 0 0 4 0 0 0 0 0 0 0 10.01 234253 chr21 46914467 46914467 G T rs371966493 COL18A1 Synonymous SNV P967P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 234254 chr21 46925294 46925294 G A rs370656151 COL18A1 Synonymous SNV P1189P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.25 234255 chr16 67970649 67970649 G C PSMB10 Nonsynonymous SNV L2V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 234256 chr16 705847 705847 C T rs765991637 WDR90 Nonsynonymous SNV R642W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 234257 chr1 19186113 19186113 G A rs750642439 TAS1R2 Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.549 234258 chr1 19201069 19201069 G C rs377587520 ALDH4A1 Synonymous SNV V438V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.91 234259 chr12 130184625 130184625 C G rs765486372 TMEM132D Nonsynonymous SNV G233A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 234260 chr12 13065050 13065050 C T rs754495155 GPRC5A Nonsynonymous SNV P319S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 234261 chr3 13421196 13421196 G A rs767772331 NUP210 Synonymous SNV Y281Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.847 234262 chr16 74922130 74922130 T C rs138261959 WDR59 Synonymous SNV L761L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.585 234263 chr12 133430112 133430112 G A rs374229656 CHFR Nonsynonymous SNV A346V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.018 234264 chr19 48244377 48244377 C T rs78985505 EHD2 Synonymous SNV D440D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 234265 chr19 48607879 48607879 C T rs149438480 PLA2G4C Nonsynonymous SNV V85I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 234266 chr1 20879923 20879923 G C rs527705374 FAM43B Nonsynonymous SNV G153R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 234267 chr1 210006582 210006582 G A rs762147245 UTP25 Synonymous SNV P147P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.09 234268 chr1 213303178 213303178 G A rs147945661 RPS6KC1 Nonsynonymous SNV A249T 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 234269 chr1 222838797 222838797 T C MIA3 Nonsynonymous SNV F732L 0 0 0.007 0 0 0 0 2 0 0 1 0 22.6 234270 chr19 51920896 51920896 T C rs545322681 LOC100129083 0 0.003 0 0 0 1 0 0 0 0 0 0 3.478 234271 chr12 48393848 48393848 G A rs774081386 COL2A1 Nonsynonymous SNV P49L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 234272 chr7 73450902 73450902 C T ELN Nonsynonymous SNV L51F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 234273 chr7 84628798 84628798 A G rs774472808 SEMA3D Synonymous SNV H764H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 234274 chr1 23238949 23238949 G A rs201578620 EPHB2 Synonymous SNV P845P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 234275 chr12 50410489 50410489 T C rs140219914 RACGAP1 Nonsynonymous SNV M4V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.609 234276 chr11 5809525 5809525 G A rs749958918 OR52N1 Synonymous SNV N174N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.037 234277 chr19 53116713 53116713 C T rs768797381 ZNF83 Nonsynonymous SNV G369S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 234278 chr1 236907983 236907983 G A rs747534491 ACTN2 Nonsynonymous SNV R438Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 234279 chr7 93519978 93519978 G A TFPI2 Nonsynonymous SNV R5C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 234280 chr1 24447698 24447698 A T rs569903098 IL22RA1 Nonsynonymous SNV M441K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 234281 chr20 590772 590772 G A TCF15 Nonsynonymous SNV S37L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 234282 chr3 78735014 78735014 G A rs200759888 ROBO1 Synonymous SNV S372S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.004 234283 chr22 50192287 50192287 C T rs750979921 BRD1 Synonymous SNV T568T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 234284 chr11 62362051 62362051 G A rs150943840 MTA2 Synonymous SNV N370N 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 2.229 234285 chr3 111638003 111638003 G A rs765870551 PHLDB2 Nonsynonymous SNV E602K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.4 234286 chr1 25679404 25679404 G - TMEM50A M102Ifs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 234287 chr1 26488183 26488183 G A FAM110D Nonsynonymous SNV G134E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 234288 chr1 26527517 26527517 G A CATSPER4 Nonsynonymous SNV R395Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 234289 chr11 6459609 6459609 G A HPX Nonsynonymous SNV A156V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.959 234290 chr20 9495454 9495454 C A rs55905271 LAMP5-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.8 234291 chr12 6437037 6437037 G A rs370286788 PLEKHG6 Nonsynonymous SNV R731Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 234292 chr11 65366990 65366990 - GGGAAGGGGGCGGCTCGGTCGGGC rs746165183 MAP3K11 S693_P694insRPTEPPPS 0 0 0 1 0 0 0.003 0 0 0 0 0 234293 chr7 100696407 100696407 G A rs374087771 MUC17 Nonsynonymous SNV R4415H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.379 234294 chr7 100806654 100806654 C T rs777985669 VGF Nonsynonymous SNV V491M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 234295 chr11 6559989 6559989 A T DNHD1 Stop gain K1092X 0 0 0 2 0 0 0.005 0 0 0 0 0 38 234296 chr3 123652586 123652586 T C rs752302949 CCDC14 Nonsynonymous SNV N302D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 234297 chr7 105142976 105142976 G A rs376821001 PUS7 Synonymous SNV I207I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.63 234298 chr7 105669000 105669000 C T rs368556227 CDHR3 Nonsynonymous SNV T671M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.83 234299 chr1 38511231 38511231 C T rs145557249 POU3F1 Synonymous SNV K395K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 234300 chr11 6589052 6589052 C T DNHD1 Synonymous SNV L4105L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.19 234301 chr1 40125067 40125067 T G NT5C1A Nonsynonymous SNV Y278S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 234302 chr2 133403085 133403085 C G rs61757692 GPR39 Nonsynonymous SNV S423C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.1 234303 chr11 66617921 66617921 G A rs141730205 PC Nonsynonymous SNV R830C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 234304 chr20 36151226 36151226 G A NNAT Synonymous SNV R102R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.861 234305 chr1 46193362 46193362 T C rs756898715 IPP Nonsynonymous SNV H330R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 234306 chr1 46496300 46496300 C T rs760306259 MAST2 Nonsynonymous SNV L859F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 234307 chr1 46685493 46685493 C T rs566362961 LURAP1 Synonymous SNV L107L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 234308 chr12 88471554 88471554 T C rs11104729 CEP290 Nonsynonymous SNV I1836V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.722 234309 chr1 46751533 46751533 T C LRRC41 Synonymous SNV T332T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.498 234310 chr2 157370007 157370007 C T rs115712695 GPD2 Synonymous SNV D220D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 234311 chr11 74204305 74204305 G T LIPT2 Nonsynonymous SNV D148E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.736 234312 chr12 9256972 9256972 C T rs200364039 A2M Nonsynonymous SNV V227I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 234313 chr2 160619497 160619497 G A rs752817372 MARCHF7 Nonsynonymous SNV R611H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 234314 chr2 16080280 16080280 C T MYCNOS 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 234315 chr20 47570300 47570300 C G rs143570842 ARFGEF2 Nonsynonymous SNV P271A 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 234316 chr1 57169713 57169713 C T rs775647745 PRKAA2 Synonymous SNV N286N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 234317 chr1 6021908 6021908 G A rs765514910 NPHP4 Synonymous SNV L207L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.23 234318 chr2 170912004 170912004 C T rs763992066 UBR3 Synonymous SNV T1565T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 234319 chr2 170912077 170912077 G A rs140078278 UBR3 Nonsynonymous SNV A1590T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.9 234320 chr1 70385270 70385270 G A rs188409633 PIN1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.629 234321 chr7 150932139 150932139 G T rs145208514 CHPF2 Nonsynonymous SNV R90L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 234322 chr7 151860720 151860720 C A rs146378338 KMT2C Nonsynonymous SNV Q3314H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 234323 chr3 190999876 190999876 C T rs79929179 UTS2B Nonsynonymous SNV G35R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 234324 chr2 182780390 182780390 G T ITPRID2 Nonsynonymous SNV D522Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 234325 chr13 32360573 32360573 T C RXFP2 Nonsynonymous SNV L304S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 234326 chr1 9324281 9324281 C T rs760218420 H6PD Stop gain R588X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 234327 chr1 9324837 9324837 G A rs368809830 H6PD Nonsynonymous SNV G773D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 234328 chr1 94054588 94054588 G A rs765911755 BCAR3 Nonsynonymous SNV T201I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 234329 chr1 11766487 11766487 C A DRAXIN Nonsynonymous SNV R58S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 234330 chr20 14307322 14307322 A G rs149124349 FLRT3 Synonymous SNV D277D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.006 234331 chr21 37612210 37612210 C T rs904278308 DOP1B Synonymous SNV T1008T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 234332 chr20 18470612 18470612 C T RBBP9 Synonymous SNV Q119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 234333 chr1 12640558 12640558 C T rs780452213 DHRS3 Nonsynonymous SNV R26Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 234334 chr13 78320958 78320958 C T rs750204366 SLAIN1 Nonsynonymous SNV T123I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 234335 chr20 25450645 25450645 C T NINL Nonsynonymous SNV S763N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.807 234336 chr8 24200677 24200677 A T rs376050372 ADAM28 Stop gain K632X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 49 234337 chr21 43508450 43508450 A G rs557106721 UMODL1 Nonsynonymous SNV H217R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.171 234338 chr2 211481201 211481201 A G rs147062907 CPS1 Nonsynonymous SNV K875E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25 234339 chr21 43539379 43539379 C T rs757010125 UMODL1 Synonymous SNV T934T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.02 234340 chr1 149916791 149916791 T C OTUD7B Synonymous SNV A499A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.342 234341 chr2 217347600 217347600 T C rs200431186 SMARCAL1 Nonsynonymous SNV M922T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Uncertain significance 0.006 234342 chr1 152681681 152681681 - GCTCTGGGGGCTGCTGTG LCE4A C48_G49insCGSGGC 0 0.003 0 0 0 1 0 0 0 0 0 0 234343 chr20 36869101 36869101 C T rs200570038 KIAA1755 Nonsynonymous SNV G478R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 234344 chr20 43052755 43052755 G A rs140146223 HNF4A Synonymous SNV S330S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 234345 chr22 18383754 18383754 C T rs746149838 MICAL3 Nonsynonymous SNV R234Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 234346 chr8 69104722 69104722 C T rs61753705 PREX2 Synonymous SNV G1522G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.55 234347 chr17 73888472 73888472 G A rs140138977 TRIM65 Nonsynonymous SNV T207M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 234348 chr20 51870967 51870967 G A rs138844500 TSHZ2 Nonsynonymous SNV V321I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 9.731 234349 chr12 29597086 29597086 A G OVCH1 Synonymous SNV T1038T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.074 234350 chr20 5282976 5282976 C T PROKR2 Nonsynonymous SNV A289T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 234351 chr8 95523664 95523664 T C VIRMA Nonsynonymous SNV I1047V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.61 234352 chr8 101190144 101190144 C T rs934869420 SPAG1 Nonsynonymous SNV S134L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 234353 chr22 24125609 24125609 T G rs1028546972 MMP11 Nonsynonymous SNV F449V 0.001 0 0 0 1 0 0 0 0 0 0 0 30 234354 chr8 103373428 103373428 G T UBR5 Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.412 234355 chr4 75147165 75147165 G A rs756790647 MTHFD2L Nonsynonymous SNV D277N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 234356 chr17 77080651 77080651 A G rs201114454 ENGASE Nonsynonymous SNV K492E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.63 234357 chr22 26164819 26164819 A G rs76453531 MYO18B Synonymous SNV Q312Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 234358 chr22 26849367 26849367 A G rs202120615 HPS4 Nonsynonymous SNV C573R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 0.114 234359 chr22 26902838 26902838 G A rs561422389 TFIP11 Nonsynonymous SNV A58V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.1 234360 chr1 161007670 161007670 C T rs770814857 TSTD1 Synonymous SNV X110X 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 234361 chr20 61288014 61288014 C T rs200054451 SLCO4A1 Nonsynonymous SNV R70W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 234362 chr14 39817984 39817984 A G rs746569910 MIA2 Nonsynonymous SNV N586S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 234363 chr8 125568562 125568562 C T rs570817732 MTSS1 Nonsynonymous SNV G374R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 234364 chr2 241658494 241658494 C T rs766569322 KIF1A Nonsynonymous SNV V1614M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 234365 chr12 51203362 51203362 C T rs534424376 ATF1 Synonymous SNV S106S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.95 234366 chr22 36537913 36537913 T C APOL3 Nonsynonymous SNV R182G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 234367 chr12 518565 518565 A G rs771402642 CCDC77 Nonsynonymous SNV T6A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 234368 chr22 37334376 37334376 G A rs75527703 CSF2RB Synonymous SNV P842P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.538 234369 chr21 19715911 19715911 A G rs78070123 TMPRSS15 Nonsynonymous SNV M447T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 234370 chr21 28306962 28306962 C T rs978356720 ADAMTS5 Synonymous SNV E504E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 234371 chr4 103571725 103571725 C T rs377540450 MANBA Nonsynonymous SNV R613H 0.003 0 0 0 4 0 0 0 0 0 0 0 16.65 234372 chr22 38204010 38204010 C G rs984346161 GCAT Nonsynonymous SNV F12L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.348 234373 chr21 31933597 31933597 G A rs151076773 KRTAP19-7 Synonymous SNV S4S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 7.797 234374 chr14 59988370 59988370 T C CCDC175 Nonsynonymous SNV I674V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.485 234375 chr1 176998820 176998820 G T ASTN1 Nonsynonymous SNV P357H 0 0.005 0 0 0 2 0 0 0 0 0 0 25.1 234376 chr4 118005694 118005694 C T TRAM1L1 Nonsynonymous SNV A286T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.414 234377 chr21 37442255 37442285 GGCGGGGCCTGCGCCTGCGCGCTCAGCGGCC - rs536395967 LOC100133286 0 0 0.014 0 0 0 0 4 0 0 1 0 234378 chr14 65009461 65009461 G A HSPA2 Nonsynonymous SNV G632R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 234379 chr4 126370757 126370757 G A rs111758803 FAT4 Synonymous SNV V2864V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.558 234380 chr4 126372056 126372056 G A rs139704889 FAT4 Synonymous SNV V3297V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 2.288 234381 chr4 126384737 126384737 A G rs17009721 FAT4 Synonymous SNV S3940S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.2 234382 chr4 128564902 128564902 C T INTU Nonsynonymous SNV P125S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.37 234383 chr4 128635177 128635177 G A INTU Synonymous SNV L882L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.88 234384 chr8 145016572 145016572 G C rs782274378 PLEC Nonsynonymous SNV L38V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 234385 chr4 152626365 152626365 C T rs753425035 GATB Nonsynonymous SNV E312K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 234386 chr21 45833788 45833788 C T TRPM2 Nonsynonymous SNV P993S 0 0 0.007 0 0 0 0 2 0 0 1 0 22.8 234387 chr21 45978278 45978278 T A rs587713314 KRTAP10-3 Synonymous SNV P107P 0 0 0.007 0 0 0 0 2 0 0 1 0 3.977 234388 chr2 42275851 42275851 G A PKDCC Nonsynonymous SNV S171N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 234389 chr21 45978280 45978280 G T rs782218072 KRTAP10-3 Nonsynonymous SNV P107T 0 0 0.007 0 0 0 0 2 0 0 1 0 13.07 234390 chr9 744589 744589 G A rs115382946 KANK1 Synonymous SNV P1076P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 234391 chr21 47822356 47822356 G C rs113342730 PCNT Nonsynonymous SNV V1574L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.002 234392 chr9 17236489 17236489 G A rs762556408 CNTLN Nonsynonymous SNV S251N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.456 234393 chr4 184210563 184210563 C G WWC2 Synonymous SNV V1053V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.06 234394 chrX 32716069 32716069 T C DMD Nonsynonymous SNV K285R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 234395 chrX 47272838 47272838 C T rs780874457 ZNF157 Nonsynonymous SNV R456C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 234396 chr22 25119120 25119120 A G rs79268195 PIWIL3 Synonymous SNV D787D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 234397 chr22 25151792 25151792 C T rs113993349 PIWIL3 Synonymous SNV T217T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 234398 chr12 80722458 80722458 T C rs114661503 OTOGL Synonymous SNV L1396L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 4.78 234399 chr22 25294346 25294346 C T rs60417847 SGSM1 Synonymous SNV D749D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.087 234400 chr12 80749520 80749520 C T rs61734095 OTOGL Synonymous SNV C1857C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 13.23 234401 chrX 54955553 54955553 A C rs61732500 TRO Nonsynonymous SNV H330P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 234402 chrX 54955656 54955656 C T rs61732503 TRO Synonymous SNV G364G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.495 234403 chr19 54974603 54974603 G C rs538247982 LENG9 Nonsynonymous SNV A36G 0.002 0 0 0 2 0 0 0 0 0 0 0 24 234404 chrX 55035620 55035620 T A rs139596860 ALAS2 Nonsynonymous SNV Y549F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.412 234405 chr14 97321633 97321633 C G rs924108390 VRK1 Nonsynonymous SNV P217A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 234406 chrX 57515207 57515207 G A rs746661194 FAAH2 Nonsynonymous SNV G441S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 234407 chr22 28381259 28381259 G C TTC28 Synonymous SNV L1931L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 234408 chr22 33376640 33376640 C T rs546569507 SYN3 Nonsynonymous SNV R120Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 234409 chrX 118220586 118220586 G C KIAA1210 Nonsynonymous SNV S1536C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 234410 chr5 37309350 37309350 C T rs144016077 NUP155 Nonsynonymous SNV R819H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 234411 chr22 38477668 38477668 T C SLC16A8 Nonsynonymous SNV N126S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 234412 chr5 38950749 38950749 A T rs748717640 RICTOR Nonsynonymous SNV D1067E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.642 234413 chr22 38610455 38610455 C T MAFF Nonsynonymous SNV P22L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 234414 chr22 39125517 39125517 T G rs752498177 GTPBP1 Nonsynonymous SNV I589M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 234415 chr1 222696978 222696978 G A rs760894667 HHIPL2 Nonsynonymous SNV R622W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 234416 chr9 99150630 99150630 G A rs756633856 ZNF367 Synonymous SNV D314D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 234417 chr22 42473403 42473403 C G PHETA2 Nonsynonymous SNV P36A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.216 234418 chrX 138680624 138680624 G T MCF2 Nonsynonymous SNV L585M 0.001 0 0 3 1 0 0.008 0 0 0 0 1 24.1 234419 chr1 225495167 225495167 C T rs770222940 DNAH14 Nonsynonymous SNV R3004C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 234420 chr22 44028035 44028035 C T rs144171212 EFCAB6 Nonsynonymous SNV A576T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 234421 chr13 114434238 114434238 C T rs777306236 GRK1 Synonymous SNV S372S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.65 234422 chr5 57750544 57750544 G C rs375742702 PLK2 Nonsynonymous SNV L642V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 234423 chr9 109687259 109687259 C T ZNF462 Synonymous SNV L356L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.439 234424 chr22 48023221 48023221 G A rs202209690 LINC00898 0 0 0.01 0 0 0 0 3 0 0 0 0 4.185 234425 chr9 113496568 113496568 T C rs56044404 MUSK Synonymous SNV N222N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.997 234426 chr1 228494831 228494831 G A rs749375526 OBSCN Synonymous SNV T4052T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.785 234427 chr15 50152449 50152449 C T rs115284127 ATP8B4 Nonsynonymous SNV C1174Y 0.004 0 0 0 5 0 0 0 0 0 0 0 23.8 234428 chr2 106729216 106729216 G A rs180732763 UXS1 Synonymous SNV G82G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.1 234429 chr2 111425423 111425423 A C rs760051153 BUB1 Nonsynonymous SNV S171A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 234430 chr2 11295805 11295805 G C rs774944665 SLC66A3 Nonsynonymous SNV E45Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 234431 chr10 113921461 113921461 G A rs756664631 GPAM Synonymous SNV H486H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.13 234432 chr1 241933925 241933925 - ATCAAGTCAGGATTCC WDR64 Frameshift insertion C736Kfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 234433 chr2 121748226 121748226 G A rs759715103 GLI2 Nonsynonymous SNV S1579N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 234434 chr2 135740902 135740902 C T rs781499979 MAP3K19 0 0 0.003 0 0 0 0 1 0 0 0 0 8.367 234435 chr10 125622179 125622179 G A rs146535848 CPXM2 Nonsynonymous SNV T155M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 234436 chr5 129520771 129520771 C T rs199888569 CHSY3 Nonsynonymous SNV L646F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 234437 chr14 102717256 102717256 G C MOK Stop gain Y56X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 234438 chr5 132561447 132561447 T C rs373489833 FSTL4 Synonymous SNV L360L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.382 234439 chr1 248487541 248487541 G A rs146253805 OR2M7 Synonymous SNV S110S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.274 234440 chr19 3179051 3179051 C G rs144002553 S1PR4 Nonsynonymous SNV N87K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 234441 chr9 137706723 137706723 C T rs770802769 COL5A1 Synonymous SNV P1329P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.67 234442 chr9 138387385 138387385 T C rs757703135 C9orf116 Nonsynonymous SNV N100S 0.006 0.003 0 3 7 1 0.008 0 0 0 0 0 22.9 234443 chr3 146309522 146309522 G A rs370414280 PLSCR5 Synonymous SNV G200G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.6 234444 chr2 176957802 176957819 GCGGCGGCTGCGGCGGCG - rs769098325 HOXD13 A66_A71del 0 0 0.003 0 0 0 0 1 0 0 0 0 234445 chr5 149501473 149501473 T G PDGFRB Nonsynonymous SNV M708L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.4 234446 chr19 3760166 3760166 G C APBA3 Nonsynonymous SNV P33A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 234447 chr14 24527060 24527060 A T rs756480831 CARMIL3 Nonsynonymous SNV N397Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 234448 chr10 34806051 34806051 C T rs766247927 PARD3 Nonsynonymous SNV G87R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 234449 chr1 43894107 43894107 G A SZT2 Nonsynonymous SNV M1315I 0 0.003 0 0 0 1 0 0 0 0 0 0 1.495 234450 chr2 208841752 208841752 A G rs764212411 PLEKHM3 Nonsynonymous SNV M390T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 234451 chr2 210777308 210777308 A C rs1023477727 UNC80 Nonsynonymous SNV T1537P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 234452 chr19 41939196 41939196 C T rs144637709 DMAC2 Nonsynonymous SNV A166T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 234453 chr2 216251466 216251466 C T rs201469351 FN1 Nonsynonymous SNV V1429I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.033 234454 chr10 71103605 71103605 T C rs1014528063 HK1 Star tloss M29T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.2 234455 chr10 64573471 64573473 GGC - rs754873661 EGR2 A309del 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 234456 chr10 70190312 70190312 A G DNA2 Synonymous SNV L697L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.588 234457 chr2 228398451 228398451 A G AGFG1 Nonsynonymous SNV D294G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 234458 chr1 64643492 64643492 G A rs374512783 ROR1 Nonsynonymous SNV G590R 0 0.003 0 0 0 1 0 0 0 0 0 0 21 234459 chr10 75408319 75408319 G A rs138501611 SYNPO2L Nonsynonymous SNV A140V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.709 234460 chr1 6638786 6638786 T C rs144028640 TAS1R1 Synonymous SNV T302T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 234461 chr19 45284517 45284517 T G rs200445340 CBLC Nonsynonymous SNV V185G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 234462 chr19 45885875 45885875 G C rs370015920 PPP1R13L Synonymous SNV T786T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.61 234463 chr19 47225557 47225557 C T STRN4 Synonymous SNV Q656Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.797 234464 chr10 79397331 79397331 T G KCNMA1 Synonymous SNV R24R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.982 234465 chr10 79579203 79579203 T C rs776169473 DLG5 Nonsynonymous SNV T1183A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.236 234466 chr16 4935538 4935538 C T rs147570722 PPL Nonsynonymous SNV A1040T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 234467 chr2 239355089 239355089 G A rs749333203 ASB1 Synonymous SNV R214R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 234468 chr10 93221018 93221018 G A rs61754655 HECTD2 Nonsynonymous SNV V139I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.353 234469 chr2 241534613 241534613 G A rs41266977 CAPN10 Synonymous SNV A390A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.259 234470 chr10 83635336 83635336 G A rs200386386 NRG3 Synonymous SNV G80G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.48 234471 chr2 241627839 241627839 G A LOC285191 0 0 0.003 0 0 0 0 1 0 0 0 0 0.464 234472 chr6 33703208 33703208 C T rs140402994 IP6K3 Nonsynonymous SNV V16M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 234473 chr6 35923133 35923133 C G rs143407739 SLC26A8 Nonsynonymous SNV Q571H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 234474 chr2 27263611 27263611 A T rs746804824 TMEM214 Nonsynonymous SNV Q614L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 234475 chr2 27277663 27277663 C T rs763726002 AGBL5 Synonymous SNV F239F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.97 234476 chr2 27324916 27324916 A G rs545795860 CGREF1 Nonsynonymous SNV W85R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.618 234477 chr2 27802111 27802111 C T rs781084498 C2orf16 Nonsynonymous SNV T891I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 234478 chr2 32422894 32422894 A G SLC30A6 Nonsynonymous SNV N25D 0 0 0.003 0 0 0 0 1 0 0 0 0 21 234479 chr6 42978988 42978988 G A rs146155532 PPP2R5D Synonymous SNV A485A 0.003 0 0 0 3 0 0 0 1 0 0 0 3.21 234480 chr1 9982355 9982355 G T rs17034429 LZIC Synonymous SNV V192V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.056 234481 chr6 43191017 43191017 G A rs61743530 CUL9 Nonsynonymous SNV R2389Q 0.003 0.003 0 0 3 1 0 0 1 0 0 0 21.5 234482 chr2 42556105 42556105 C T rs147700887 EML4 Synonymous SNV A749A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 21.2 234483 chr16 78466628 78466628 G A rs189695070 WWOX Synonymous SNV A232A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 14.2 234484 chr10 114154743 114154743 G A rs138653304 ACSL5 Synonymous SNV P69P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 234485 chr2 54952385 54952385 G A EML6 Nonsynonymous SNV D63N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234486 chr15 40763595 40763595 G C CHST14 Nonsynonymous SNV E61D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 234487 chr15 41862898 41862898 - AGAGTTTGGTTCAGTGCGGGAGGCCCAGC rs746533465 TYRO3 0 0 0.003 1 0 0 0.003 1 0 0 0 0 234488 chr16 83999107 83999107 C T rs138963538 OSGIN1 Nonsynonymous SNV P310L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.9 234489 chr11 10615766 10615766 G C MRVI1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 11.87 234490 chr6 74192255 74192255 G A rs139608228 MTO1 Nonsynonymous SNV V517M 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 21.6 234491 chr6 74331606 74331606 G A rs142553916 SLC17A5 Nonsynonymous SNV S300F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 234492 chr2 70098882 70098882 G A rs142658350 GMCL1 Nonsynonymous SNV R457H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 234493 chr16 84360509 84360509 C T rs143905770 WFDC1 Nonsynonymous SNV A209V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 234494 chr15 42371911 42371911 G C PLA2G4D Nonsynonymous SNV L381V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 234495 chr10 123847428 123847428 G A rs776005771 TACC2 Nonsynonymous SNV D1805N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 234496 chr2 71187190 71187190 C T rs112442277 ATP6V1B1 Synonymous SNV A189A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 234497 chr16 86544836 86544836 G C FOXF1 Nonsynonymous SNV G221R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 234498 chr2 71780968 71780968 C T rs199565036 DYSF Synonymous SNV N640N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.04 234499 chr6 90368379 90368379 C T rs770320485 MDN1 Nonsynonymous SNV D4991N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 234500 chr2 95976267 95976267 A T KCNIP3 Synonymous SNV S60S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.63 234501 chr15 54305560 54305560 A G rs201347376 UNC13C Nonsynonymous SNV R154G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 234502 chr15 56126311 56126311 C T rs140800682 NEDD4 Synonymous SNV V1132V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 12.86 234503 chr15 56161779 56161779 C G rs200302839 NEDD4 Nonsynonymous SNV E571Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 21.1 234504 chr2 98409342 98409342 C T rs775148824 TMEM131 Synonymous SNV S1217S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 234505 chr15 56704567 56704567 T G rs138888960 TEX9 Nonsynonymous SNV L224W 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 28.6 234506 chr4 138451631 138451631 C A PCDH18 Nonsynonymous SNV V538L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 234507 chr3 100515254 100515254 A G rs186649663 ABI3BP Synonymous SNV P602P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 234508 chr11 397312 397312 G A rs767775391 PKP3 Nonsynonymous SNV V271I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 234509 chr16 9185931 9185931 C T rs375834133 C16orf72 Synonymous SNV A10A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 234510 chr4 151749543 151749543 T A rs911056357 LRBA Nonsynonymous SNV T1654S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.09 234511 chr4 152069109 152069109 G A rs146287053 SH3D19 Nonsynonymous SNV P367S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 234512 chr3 108147474 108147474 T C rs368557464 MYH15 Synonymous SNV A1209A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 234513 chr11 821978 821978 C T PNPLA2 Synonymous SNV F147F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.81 234514 chr4 15632371 15632371 A G FBXL5 Synonymous SNV P269P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.114 234515 chr3 113374812 113374812 A C USF3 Nonsynonymous SNV I1906S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 234516 chr6 138582769 138582769 C T ARFGEF3 Nonsynonymous SNV L404F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 234517 chr3 119347611 119347611 C A rs56163046 PLA1A Nonsynonymous SNV N222K 0 0 0.003 2 0 0 0.005 1 0 0 0 0 4.493 234518 chr17 17480287 17480287 T G rs745433638 PEMT Nonsynonymous SNV S29R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.25 234519 chr3 12046236 12046236 T C SYN2 0 0 0.007 0 0 0 0 2 0 0 1 0 6.079 234520 chr6 145161969 145161969 G A rs141700678 UTRN 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 234521 chr3 122133905 122133905 T C rs780602489 WDR5B Synonymous SNV G157G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 234522 chr3 124731777 124731777 C T rs147690345 HEG1 Synonymous SNV S882S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 234523 chr3 131100893 131100893 C G rs527720651 NUDT16 Nonsynonymous SNV Q2E 0 0 0.003 0 0 0 0 1 0 0 0 0 25 234524 chr21 28337871 28337871 C A rs151274956 ADAMTS5 Synonymous SNV A280A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.6 234525 chr3 140407294 140407294 C - rs769007621 TRIM42 H591Tfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 234526 chr3 142682026 142682026 G A rs769252879 PAQR9 Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 234527 chr21 34925223 34925223 - TTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGAC SON T1247_V1248insYSVSASDPSVLVSEAAVT 0 0.003 0 0 0 1 0 0 0 0 0 0 234528 chr1 10713985 10713985 A G rs954167525 CASZ1 Nonsynonymous SNV L710P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 234529 chr3 158450083 158450083 C G RARRES1 Nonsynonymous SNV G41A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.585 234530 chr21 42866436 42866436 - A rs758190152 TMPRSS2 Frameshift insertion Q66Sfs*54 0 0.003 0 0 0 1 0 0 0 0 0 0 234531 chr1 110593630 110593630 A G rs547443433 STRIP1 Nonsynonymous SNV N575S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 234532 chr3 170150353 170150353 G A rs549752354 CLDN11 Nonsynonymous SNV A61T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 234533 chr11 45832871 45832871 C T rs749987181 SLC35C1 Synonymous SNV S360S 0 0 0 2 0 0 0.005 0 0 0 0 0 4.872 234534 chr3 182631701 182631701 C A rs138385809 ATP11B Nonsynonymous SNV P1124Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 234535 chr4 68360896 68360896 G C rs370777522 CENPC Nonsynonymous SNV N722K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.954 234536 chr17 39538436 39538436 G A rs374587752 KRT34 Synonymous SNV C63C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.363 234537 chr3 183957821 183957821 C T rs201807371 VWA5B2 Nonsynonymous SNV R695W 0.003 0 0.007 0 3 0 0 2 0 0 0 0 17.96 234538 chr11 48328024 48328024 T A OR4S1 Nonsynonymous SNV F84I 0 0 0 2 0 0 0.005 0 0 0 0 0 8.407 234539 chr3 186953620 186953620 A G rs759735292 MASP1 Nonsynonymous SNV V680A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.895 234540 chr16 2141602 2141602 C A rs763279854 LOC105371049 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.659 234541 chr17 42248242 42248303 CGGCGGGCGGCTGCCCAGCAGTGCCGGAGCCGCAGGTGCCCGTCAAGTCCCCGGGCCCGACT - ASB16 R29Hfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 234542 chr3 194344271 194344271 G T rs756752263 TMEM44 Nonsynonymous SNV A171E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 234543 chr22 20920885 20920885 G A rs201812389 MED15 Synonymous SNV P203P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.06 234544 chr3 196159134 196159134 - CGGGGCAG rs754611849 UBXN7-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 234545 chr16 27268767 27268767 T C rs937153015 NSMCE1 Nonsynonymous SNV K42R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.29 234546 chr4 85694076 85694076 C T rs757924553 WDFY3 Synonymous SNV G1587G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 234547 chr3 31621354 31621354 A G rs139496568 STT3B Synonymous SNV T159T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 4.866 234548 chr4 88733051 88733051 C A IBSP Nonsynonymous SNV H315N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 234549 chr16 3080722 3080722 G A rs764724643 BICDL2 Nonsynonymous SNV T197M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 234550 chr7 47834994 47834994 C T rs993962316 C7orf69 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.438 234551 chr7 48083181 48083181 G T rs202142299 C7orf57 Nonsynonymous SNV Q115H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.77 234552 chr22 28194750 28194750 C T MN1 Synonymous SNV P594P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.72 234553 chr3 40192588 40192588 C T rs199884040 MYRIP Nonsynonymous SNV R128C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 35 234554 chr5 112162877 112162877 G A APC Nonsynonymous SNV S476N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.02 234555 chr7 75609779 75609779 C T rs369026313 POR Synonymous SNV D163D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 234556 chr17 61611245 61611245 A G rs139301538 KCNH6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 234557 chr16 53279675 53279675 A G CHD9 Nonsynonymous SNV K1123E 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 234558 chr7 87056220 87056220 A T rs202167250 ABCB4 Nonsynonymous SNV I637N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.015 234559 chr3 46485000 46485000 G A rs139298219 LTF Synonymous SNV D485D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.431 234560 chr17 636409 636409 T G TLCD3A Nonsynonymous SNV V65G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 234561 chr3 48457821 48457821 G A rs773535435 PLXNB1 Synonymous SNV A1138A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 234562 chr7 92732566 92732566 C A rs151038564 SAMD9 Nonsynonymous SNV A949S 0.003 0 0 0 3 0 0 0 0 0 0 0 3.26 234563 chr22 40257799 40257799 A C rs756490695 ENTHD1 Nonsynonymous SNV L188R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 234564 chr22 40814829 40814829 G A rs764365801 MRTFA Nonsynonymous SNV T538M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 234565 chr3 51864709 51864709 C A rs199520259 IQCF3 Nonsynonymous SNV F119L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.994 234566 chr11 57076876 57076876 G A rs771407102 TNKS1BP1 Synonymous SNV S1103S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.677 234567 chr17 7131299 7131299 G C rs145282702 DVL2 Nonsynonymous SNV R367G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 234568 chr3 52835156 52835156 G A rs376951671 ITIH3 Synonymous SNV Q459Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.296 234569 chr3 52864581 52864581 A G rs769137058 ITIH4 Synonymous SNV T26T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.114 234570 chr22 44585006 44585006 C T rs138075453 PARVG Nonsynonymous SNV A87V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.87 234571 chr3 58135695 58135695 C T rs538937637 FLNB Synonymous SNV I2046I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.51 234572 chr3 58413816 58413816 G C rs777056005 PDHB Nonsynonymous SNV S324C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 234573 chr3 64608147 64608147 G A rs142920929 ADAMTS9 Synonymous SNV A807A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.02 234574 chr3 68802132 68802132 G A rs201978822 TAFA4 Synonymous SNV V56V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 234575 chr3 69988298 69988298 G T MITF Nonsynonymous SNV G104V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 234576 chr17 73658614 73658614 T C rs372882936 RECQL5 Nonsynonymous SNV Y239C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 234577 chr11 59950657 59950657 C G MS4A6A Nonsynonymous SNV E8Q 0 0 0 2 0 0 0.005 0 0 0 0 0 18.14 234578 chr1 17548899 17548899 G A rs41265069 PADI1 Synonymous SNV P69P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.456 234579 chr4 10447327 10447327 G A rs199541568 ZNF518B Nonsynonymous SNV T209M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 234580 chr16 85143924 85143924 C T rs141444139 FAM92B Nonsynonymous SNV D55N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 16.99 234581 chr1 18807826 18807826 C T KLHDC7A Synonymous SNV P117P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 10.64 234582 chr17 76989726 76989726 G A rs372631124 CANT1 Nonsynonymous SNV A371V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 29.4 234583 chr7 115890473 115890473 C T rs188977232 TES Nonsynonymous SNV P209S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.596 234584 chr7 117230411 117230411 G A rs1800097 CFTR Nonsynonymous SNV V562I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 234585 chr17 78319718 78319718 G A rs202143169 RNF213 Nonsynonymous SNV R2528Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.8 234586 chr7 124404017 124404017 G A rs540473140 GPR37 Synonymous SNV P338P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.735 234587 chr5 159776312 159776312 G C C1QTNF2 Nonsynonymous SNV L241V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 234588 chr4 153691348 153691348 C T rs757895789 TIGD4 Nonsynonymous SNV R270Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.845 234589 chr4 15444273 15444273 G T rs550036426 C1QTNF7 Nonsynonymous SNV Q247H 0 0 0.003 0 0 0 0 1 0 0 0 0 22 234590 chr4 155161947 155161948 AT - rs746954309 DCHS2 H2367Rfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 234591 chr7 139661973 139661973 A G TBXAS1 Nonsynonymous SNV T298A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 234592 chr7 140501349 140501349 C T rs369182143 BRAF Synonymous SNV T241T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.53 234593 chr7 141864800 141864800 G A rs756992949 MGAM2 Nonsynonymous SNV V877I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 234594 chr4 166022035 166022035 C T rs369304766 TMEM192 Nonsynonymous SNV V62I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 234595 chr11 64726843 64726843 T C rs778045629 MAJIN Nonsynonymous SNV E12G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 234596 chr17 1704178 1704178 T C rs58309758 SMYD4 Synonymous SNV E170E 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.155 234597 chr7 142750009 142750009 G A rs190503522 OR6V1 Nonsynonymous SNV R191H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.432 234598 chr1 208315692 208315692 G A rs149871348 PLXNA2 Synonymous SNV Y496Y 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Benign 0.948 234599 chr4 1719150 1719150 C T rs781325125 TMEM129 Stop gain W229X 0 0 0.003 0 0 0 0 1 0 0 0 0 7.532 234600 chr1 20964621 20964621 C T rs770984783 PINK1 Nonsynonymous SNV S225L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 234601 chr17 18881970 18881970 C T rs201626154 FAM83G Nonsynonymous SNV A337T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.04 234602 chr7 148768644 148768644 C T rs62507486 ZNF786 Nonsynonymous SNV R407H 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 10.96 234603 chr7 148802334 148802334 C T rs147910083 ZNF425 Nonsynonymous SNV R210Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 234604 chr7 148947862 148947862 G A rs76516730 ZNF212 Nonsynonymous SNV V169M 0.003 0 0.007 1 4 0 0.003 2 0 0 0 0 31 234605 chr11 66103864 66103864 G A rs759907058 RIN1 Nonsynonymous SNV P4S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 234606 chr1 212965281 212965281 A T TATDN3 Synonymous SNV V6V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.162 234607 chr20 39833062 39833062 C T ZHX3 Synonymous SNV A165A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 234608 chr4 185941698 185941698 C T rs200667795 HELT Synonymous SNV F167F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.61 234609 chr4 186541240 186541240 T C rs144963020 SORBS2 Nonsynonymous SNV R761G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 234610 chr11 67203282 67203282 G A rs759590400 PTPRCAP Synonymous SNV H181H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 234611 chr4 187209600 187209600 G A rs778179698 F11-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.247 234612 chr1 21890673 21890673 C T rs141448778 ALPL Synonymous SNV I127I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.3 234613 chr18 32949499 32949499 C T ZNF396 Nonsynonymous SNV G230R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.018 234614 chr1 22172740 22172740 G A rs142011049 HSPG2 Synonymous SNV G2776G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 6.127 234615 chr4 189026407 189026407 C T TRIML2 Nonsynonymous SNV S39N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.837 234616 chr1 222700374 222700374 G A rs201770026 HHIPL2 Nonsynonymous SNV A581V 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 26.8 234617 chr18 33785083 33785083 G A rs141361512 MOCOS Synonymous SNV Q354Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 1.888 234618 chr7 158552801 158552801 T C rs745762154 ESYT2 Nonsynonymous SNV H424R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.36 234619 chr17 28320335 28320335 C A rs199836040 EFCAB5 Stop gain S251X 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 234620 chr8 1842706 1842706 G A rs201694611 ARHGEF10 Nonsynonymous SNV V432M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 234621 chr2 179605912 179605912 C T rs528996964 TTN Nonsynonymous SNV M3653I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.988 234622 chr11 798233 798233 - CCGCGCTCGCCTGCCCGCC PANO1 Frameshift insertion A213Pfs*118 0 0 0 1 0 0 0.003 0 0 0 0 0 234623 chr2 182521577 182521577 C T rs141389059 CERKL Nonsynonymous SNV E53K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 234624 chr4 38775957 38775957 A G rs370130444 TLR10 Nonsynonymous SNV W419R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26.1 234625 chr18 5433985 5433985 G A rs200327567 EPB41L3 Synonymous SNV S247S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.149 234626 chr1 227935421 227935421 C T rs150812885 SNAP47 Nonsynonymous SNV T40I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 234627 chr4 40119617 40119617 C T rs140402064 N4BP2 Nonsynonymous SNV A598V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.62 234628 chr8 12957605 12957605 C T rs150342076 DLC1 Synonymous SNV S236S 0.004 0 0 0 5 0 0 0 0 0 0 0 12.74 234629 chr2 190660536 190660536 G T rs143323454 PMS1 Synonymous SNV G58G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.299 234630 chr2 190660537 190660537 G A rs143265397 PMS1 Nonsynonymous SNV E59K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 18.46 234631 chr5 72185768 72185768 A G rs765305082 TNPO1 Nonsynonymous SNV H512R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 234632 chr5 74017524 74017524 G A GFM2 Stop gain Q719X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 43 234633 chr5 74325372 74325372 T C rs116322669 GCNT4 Nonsynonymous SNV Y164C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 234634 chr1 233121959 233121959 C A PCNX2 Nonsynonymous SNV S2040I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 234635 chr2 202498136 202498136 G A TMEM237 Nonsynonymous SNV T98I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.41 234636 chr12 1023069 1023069 G A rs112677599 RAD52 Nonsynonymous SNV R319C 0.002 0 0 3 2 0 0.008 0 0 0 0 0 15.38 234637 chr1 24140723 24140723 C T rs146306707 HMGCL Nonsynonymous SNV A152T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 234638 chr11 115375014 115375014 G T rs146611678 CADM1 Nonsynonymous SNV F33L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.094 234639 chr1 24417440 24417440 C T rs200218911 MYOM3 Nonsynonymous SNV G427R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.82 234640 chr1 245775202 245775202 C T rs373882982 KIF26B Synonymous SNV D674D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.75 234641 chr11 119057315 119057315 C T PDZD3 Synonymous SNV T82T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.21 234642 chr4 85696083 85696083 C T rs148627620 WDFY3 Synonymous SNV K1548K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 234643 chr4 88537439 88537456 GACAGCAGTGACAGCAGC - rs762882128 DSPP S1226_S1231del 0 0 0.003 0 0 0 0 1 0 0 0 0 234644 chr8 74917098 74917098 A G rs750965347 LY96 Synonymous SNV L60L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.324 234645 chr8 77895682 77895682 C T rs112108739 PEX2 Nonsynonymous SNV A245T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 14.44 234646 chr19 11979092 11979092 C T rs765577466 ZNF439 Nonsynonymous SNV T267I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.804 234647 chr11 126137205 126137205 G A rs558045090 SRPRA Nonsynonymous SNV R103C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 234648 chr11 130332547 130332547 G A rs201237546 ADAMTS15 Nonsynonymous SNV G472R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 234649 chr1 31194552 31194552 G A rs757416393 MATN1 Synonymous SNV D47D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.56 234650 chr19 15540782 15540782 G A rs189657005 WIZ Synonymous SNV G89G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 234651 chr5 132270351 132270351 T G rs34527550 AFF4 Nonsynonymous SNV T136P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.886 234652 chr5 132388026 132388026 T C HSPA4 Synonymous SNV N28N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.709 234653 chr5 133861425 133861425 - G rs746853043 JADE2 Frameshift insertion M17Dfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 234654 chr12 6219666 6219666 A G VWF Nonsynonymous SNV F136L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 234655 chr12 6219683 6219683 G A VWF Nonsynonymous SNV S130F 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 234656 chr5 140174684 140174684 G T rs782271998 PCDHA2 Synonymous SNV V45V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.78 234657 chr12 8670869 8670869 A C rs768155447 CLEC4D Nonsynonymous SNV E77D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 234658 chr5 149312294 149312294 C T rs142100463 LOC644762 0 0 0.003 0 0 0 0 1 0 0 0 0 4.58 234659 chr2 27559243 27559243 T C rs372672191 GTF3C2 Nonsynonymous SNV T393A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.73 234660 chr8 145559746 145559746 C T rs200494214 SCRT1 Nonsynonymous SNV S29N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 234661 chr19 2405456 2405456 C T rs117767265 TMPRSS9 Nonsynonymous SNV A218V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.677 234662 chr5 159781947 159781947 G C rs148493891 C1QTNF2 Synonymous SNV R24R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.649 234663 chr9 4625399 4625399 C T rs777343071 SPATA6L Synonymous SNV Q108Q 0.003 0 0 0 4 0 0 0 0 0 0 0 4.719 234664 chr5 172750235 172750235 A G rs147265120 STC2 Synonymous SNV L165L 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.823 234665 chr5 176004508 176004508 G A rs755178887 CDHR2 Nonsynonymous SNV V435I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 234666 chr5 176522616 176522616 C T rs374918004 FGFR4 Synonymous SNV D531D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.094 234667 chr5 177614106 177614106 G A rs560704677 GMCL2 Synonymous SNV D65D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.41 234668 chr9 20821057 20821057 A G FOCAD Nonsynonymous SNV I594V 0.003 0 0 0 4 0 0 0 0 0 0 0 14.77 234669 chr12 44124468 44124468 G A rs751809286 PUS7L Nonsynonymous SNV P293L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 234670 chr17 76471897 76471897 A C DNAH17 Nonsynonymous SNV L2725V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 234671 chr12 44537360 44537360 G A rs145821678 TMEM117 Nonsynonymous SNV R4Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 234672 chr5 33984478 33984478 T C rs146913714 SLC45A2 Nonsynonymous SNV S71G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 234673 chr12 49162803 49162803 G A rs546108808 ADCY6 Nonsynonymous SNV R1100W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 234674 chr12 53722217 53722217 G A rs779183180 SP7 Nonsynonymous SNV R337C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 234675 chr5 36984875 36984875 G A rs760769176 NIPBL Synonymous SNV T531T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.991 234676 chr6 42236281 42236281 A G rs144939636 TRERF1 Nonsynonymous SNV S350P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.411 234677 chr5 37333644 37333644 T A NUP155 Nonsynonymous SNV H480L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.7 234678 chr19 40895407 40895407 C T HIPK4 Nonsynonymous SNV A135T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 234679 chr19 41025695 41025695 C T SPTBN4 Synonymous SNV L1097L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 234680 chr5 66445400 66445400 C T MAST4 Nonsynonymous SNV S899F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 234681 chr12 53187985 53187985 C T rs199804632 KRT3 Nonsynonymous SNV R259Q 0.004 0 0 0 5 0 0 0 0 0 0 0 23.6 234682 chr17 8644873 8644873 C T CCDC42 Synonymous SNV L137L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.419 234683 chr2 98804579 98804579 C T rs200956872 VWA3B Nonsynonymous SNV R142W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 234684 chr19 42912536 42912536 C T rs1057203268 LOC101930071 0.001 0 0 0 1 0 0 0 0 0 0 0 8.624 234685 chr5 76264662 76264662 A G CRHBP Synonymous SNV E307E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.616 234686 chr12 54803091 54803091 T C ITGA5 Nonsynonymous SNV S170G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.736 234687 chr12 55356888 55356888 G A rs938614689 TESPA1 Nonsynonymous SNV P56L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 234688 chr9 109690639 109690639 G A rs762976605 ZNF462 Synonymous SNV L1482L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.81 234689 chr12 7803647 7803647 T C APOBEC1 Nonsynonymous SNV Y133C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 234690 chr5 86410766 86410766 C G rs116213678 MIR4280 0 0 0.017 0 0 0 0 5 0 0 0 0 6.245 234691 chr12 89885745 89885745 C T rs140400217 POC1B Synonymous SNV L98L 0.001 0 0 9 1 0 0.023 0 0 0 0 0 9.845 234692 chr12 64485068 64485068 - C SRGAP1 Stop gain K486* 0.001 0 0 0 1 0 0 0 0 0 0 0 234693 chr12 64664370 64664370 C T rs202117720 C12orf56 Nonsynonymous SNV R410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.305 234694 chr20 20016979 20016979 - AA CRNKL1 Frameshift insertion D642Lfs*62 0 0.003 0 0 0 1 0 0 0 0 0 0 234695 chr6 107110855 107110855 A C rs150607276 QRSL1 Nonsynonymous SNV E387D 0.003 0 0.01 0 3 0 0 3 0 0 0 0 11.54 234696 chr9 123779665 123779665 C T C5 Nonsynonymous SNV R620K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 234697 chr6 116966956 116966956 C T rs758411743 ZUP1 Nonsynonymous SNV R341Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234698 chr6 127771401 127771401 T A rs201162848 KIAA0408 Nonsynonymous SNV I78L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 234699 chr20 33586876 33586876 G A rs373986285 MYH7B Nonsynonymous SNV R1445Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 234700 chr19 48977561 48977561 G A rs753332499 CYTH2 Nonsynonymous SNV G224R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 234701 chr19 49132492 49132492 G A rs139969917 SPHK2 Nonsynonymous SNV G440D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 234702 chr6 135644432 135644432 G A rs780163791 AHI1 Stop gain R1066X 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 43 234703 chr6 136494940 136494940 G A rs1046199290 PDE7B Nonsynonymous SNV M239I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 234704 chr19 49458982 49458982 C T rs763971444 BAX Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.296 234705 chr19 49611493 49611493 - CGTGAC rs372534575 SNRNP70 R367_E368insDR 0.001 0 0 0 1 0 0 0 0 0 0 0 234706 chr12 105601955 105601955 T C rs751682998 APPL2 Synonymous SNV L132L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.501 234707 chr19 49838981 49838981 G A rs367788780 CD37 Nonsynonymous SNV S27N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 234708 chr20 43585096 43585096 A G rs753018840 TOMM34 Nonsynonymous SNV L53P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 234709 chr12 110206601 110206601 G A rs139486750 FAM222A Synonymous SNV P289P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.12 234710 chr6 151672379 151672379 T C rs755477991 AKAP12 Synonymous SNV T846T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.071 234711 chr6 151673637 151673637 A C AKAP12 Nonsynonymous SNV S1266R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 234712 chr3 140407257 140407257 G A TRIM42 Nonsynonymous SNV G578E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.196 234713 chr20 47865496 47865496 G A rs547994891 ZNFX1 Synonymous SNV C1355C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 2.324 234714 chr13 33635376 33635376 T A KL Nonsynonymous SNV H720Q 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 0.001 234715 chr13 34410408 34410408 T C RFC3 Synonymous SNV D349D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.524 234716 chr19 1007866 1007866 C A rs148406831 GRIN3B Nonsynonymous SNV P737H 0 0 0.01 3 0 0 0.008 3 0 0 0 0 25.6 234717 chr6 160496982 160496982 A G rs760407124 IGF2R Nonsynonymous SNV N1757S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 234718 chr9 139912010 139912010 G A rs572400385 ABCA2 Synonymous SNV H782H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.188 234719 chr19 1052285 1052285 G A rs769611040 ABCA7 Nonsynonymous SNV G1074S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.603 234720 chr9 140007546 140007546 G A rs141137828 DPP7 Synonymous SNV F243F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.141 234721 chr7 124493124 124493124 T A rs762679439 POT1 Synonymous SNV T126T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.36 234722 chr19 1114397 1114397 T C rs375403976 SBNO2 Nonsynonymous SNV K580R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 234723 chr6 168910643 168910643 G A rs147685249 SMOC2 Nonsynonymous SNV A45T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.301 234724 chr6 169641991 169641991 C T rs142711993 THBS2 Nonsynonymous SNV E253K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 234725 chr13 61987762 61987762 C T rs761861612 PCDH20 Nonsynonymous SNV G157D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.8 234726 chr12 132426339 132426339 C T rs145061048 PUS1 Synonymous SNV N321N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.3 234727 chr19 54314055 54314055 G A rs145171629 NLRP12 Synonymous SNV P286P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.838 234728 chr6 25916068 25916068 A G SLC17A2 Nonsynonymous SNV I320T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.2 234729 chr7 141424954 141424954 C T rs45535636 WEE2 Synonymous SNV D450D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 234730 chr6 34512162 34512162 G A rs370099797 SPDEF Nonsynonymous SNV S24L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.644 234731 chr6 35046396 35046396 G A rs200009772 ANKS1A Nonsynonymous SNV R749Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234732 chr19 15227014 15227014 T C ILVBL Nonsynonymous SNV T474A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 234733 chr7 143701992 143701992 A G rs371033260 OR6B1 Synonymous SNV K301K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.519 234734 chr7 1484300 1484300 G A rs538883284 MICALL2 Nonsynonymous SNV P469L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.048 234735 chr6 36642405 36642405 C - rs58916511 PANDAR 0 0 0.034 0 0 0 0 10 0 0 1 0 234736 chr21 33719989 33719989 A G rs1001514702 URB1 Synonymous SNV F1048F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.271 234737 chr14 21052249 21052249 G A rs149762779 RNASE11 Nonsynonymous SNV R129C 0 0 0 2 0 0 0.005 0 0 0 0 0 11.89 234738 chr7 16725651 16725651 G C rs369538600 BZW2 Nonsynonymous SNV S176T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.14 234739 chr14 23044116 23044124 TCTGTATTC - DAD1 R74_Q76del 0 0 0 1 0 0 0.003 0 0 0 0 0 234740 chr6 52883250 52883250 T C rs201632235 ICK Nonsynonymous SNV I181V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 234741 chr6 53660116 53660116 A G rs774479774 LRRC1 Nonsynonymous SNV H21R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 234742 chr13 76140980 76140980 G A UCHL3 Nonsynonymous SNV M75I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.29 234743 chr6 56476390 56476390 G A DST Nonsynonymous SNV S1151F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 234744 chr19 58967265 58967265 C T rs139456933 ZNF324B Synonymous SNV C318C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 234745 chr6 70873274 70873274 G A rs147345076 COL19A1 Nonsynonymous SNV A796T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 234746 chr3 46016784 46016784 G A FYCO1 Synonymous SNV H114H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.874 234747 chr6 78471236 78471236 T C MEI4 Nonsynonymous SNV F208L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 234748 chr3 47162897 47162897 T C rs114719990 SETD2 Nonsynonymous SNV T1033A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.6 234749 chr6 88776026 88776026 T C rs201091472 SPACA1 Synonymous SNV D286D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.48 234750 chr3 49137079 49137079 G A rs141072684 QARS1 Nonsynonymous SNV R453C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 234751 chr14 20404502 20404502 G A rs755426984 OR4K1 Nonsynonymous SNV R226Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 234752 chr10 75035131 75035131 G A rs548024299 DNAJC9-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 3.197 234753 chr10 75276815 75276815 G C rs760667801 USP54 Synonymous SNV P1066P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.787 234754 chr3 51664332 51664332 C T rs201148857 RAD54L2 Nonsynonymous SNV R176W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 234755 chr3 5236918 5236918 A C EDEM1 Synonymous SNV V178V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.106 234756 chr3 52813513 52813513 C T rs755550027 ITIH1 Nonsynonymous SNV T17M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 234757 chr14 24842498 24842498 C T rs149390527 NFATC4 Nonsynonymous SNV T494M 0.003 0 0 0 3 0 0 0 0 0 0 0 29.8 234758 chr7 102553659 102553659 G A rs74375893 FBXL13 Synonymous SNV H294H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.514 234759 chr14 31061628 31061628 A G rs145527124 G2E3 Nonsynonymous SNV I67V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 234760 chr7 102665562 102665562 T C rs115378784 FBXL13 Nonsynonymous SNV D148G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 234761 chr7 102665571 102665571 A G rs79161863 FBXL13 Nonsynonymous SNV F145S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 234762 chr7 102732933 102732933 A G rs146105958 ARMC10 Nonsynonymous SNV S145G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 234763 chr7 102782050 102782050 T C rs7795941 RPL19P12 0 0 0.003 0 0 0 0 1 0 0 0 0 4.434 234764 chr22 39496302 39496302 G - rs760113060 APOBEC3H E7Kfs*28 0.001 0.003 0 0 1 1 0 0 0 0 0 0 234765 chr7 103130238 103130238 G A rs78218774 RELN Synonymous SNV H3238H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.45 234766 chr10 102045873 102045873 G T rs144731392 BLOC1S2 Stop gain Y8X 0.002 0 0 0 2 0 0 0 0 0 0 0 41 234767 chr7 105254169 105254169 G A rs73717205 ATXN7L1 Nonsynonymous SNV P655L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 234768 chr22 41650492 41650492 G A rs200379863 RANGAP1 Synonymous SNV D360D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.552 234769 chr1 109813643 109813643 G A rs546808630 CELSR2 Synonymous SNV P2526P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.02 234770 chr3 9877151 9877151 C T rs199961665 TTLL3 Nonsynonymous SNV P909L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.07 234771 chr3 9988118 9988118 C T rs746276060 PRRT3 Synonymous SNV K913K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 234772 chr7 127342511 127342511 C T rs201003399 SND1 Synonymous SNV D204D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.12 234773 chr4 103236963 103236963 A T SLC39A8 Nonsynonymous SNV S15T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.53 234774 chr4 103455036 103455036 T C rs761203958 NFKB1 Synonymous SNV P50P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.328 234775 chr19 44273595 44273595 C T rs200425698 KCNN4 Nonsynonymous SNV A350T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 234776 chr7 142760301 142760301 T C OR6W1P 0 0 0.007 0 0 0 0 2 0 0 1 0 4.294 234777 chr14 68141095 68141095 T A rs531152724 VTI1B Nonsynonymous SNV T38S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.358 234778 chr7 148709288 148709288 T C rs752950039 PDIA4 Nonsynonymous SNV K260R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 234779 chr14 71199567 71199567 A G rs767662014 MAP3K9 Nonsynonymous SNV I573T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 234780 chr14 71443826 71443826 G A rs151313378 PCNX1 Nonsynonymous SNV A258T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 234781 chr22 50903686 50903686 G A rs369261069 SBF1 Synonymous SNV H388H 0 0.005 0 2 0 2 0.005 0 0 0 0 0 7.199 234782 chr7 150094934 150094934 C T rs369956053 ZNF775 Synonymous SNV F455F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 234783 chr19 45912181 45912181 G A rs143443617 CD3EAP Nonsynonymous SNV E321K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 234784 chr15 40099429 40099429 C T rs377756503 GPR176 Nonsynonymous SNV R23H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.6 234785 chr7 150878338 150878338 G A rs138546100 ASB10 Synonymous SNV T264T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.2 234786 chr7 151110062 151110062 A G rs190505535 WDR86-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 234787 chr10 129905822 129905822 C T rs199813600 MKI67 Nonsynonymous SNV D1068N 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 234788 chr1 151260146 151260146 C T ZNF687 Nonsynonymous SNV T460I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.213 234789 chr4 156631947 156631947 C T rs138687424 GUCY1A1 Synonymous SNV T210T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 234790 chr1 152080071 152080082 CTGGCGACGTTT - rs990671148 TCHH K1871_Q1874del 0.001 0 0 0 1 0 0 0 0 0 0 0 234791 chr7 19184732 19184732 C A rs74366495 FERD3L Nonsynonymous SNV G85V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.17 234792 chr1 152692532 152692532 G A C1orf68 Nonsynonymous SNV G179R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 234793 chr14 89089058 89089058 T G rs760450441 EML5 Nonsynonymous SNV K1635Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 234794 chr8 139601612 139601612 G T rs139658465 COL22A1 Nonsynonymous SNV P1589T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 234795 chr10 135369308 135369308 C T rs150742469 SYCE1 Nonsynonymous SNV R232H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 234796 chr14 92790196 92790196 C T SLC24A4 Nonsynonymous SNV R8W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 234797 chr15 50540483 50540483 G A rs143418383 HDC Nonsynonymous SNV R367W 0.001 0 0 3 1 0 0.008 0 0 0 0 0 35 234798 chr7 27140349 27140349 T C HOXA2 Nonsynonymous SNV Y376C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 234799 chr7 27282909 27282909 C T rs546856629 EVX1 Nonsynonymous SNV A87V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.355 234800 chr15 52876984 52876984 C T rs759467569 FAM214A Nonsynonymous SNV R1019Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 18.45 234801 chr7 38502634 38502634 G A rs144982032 AMPH Nonsynonymous SNV P277S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 234802 chr8 144998547 144998547 C T rs782693268 PLEC Synonymous SNV T1836T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 234803 chr14 104639674 104639674 A G rs745737089 KIF26A Nonsynonymous SNV N564S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 234804 chr7 44150782 44150782 G T rs746781450 AEBP1 Nonsynonymous SNV V554L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 234805 chr2 238483662 238483662 C G RAB17 X213Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.33 234806 chr14 105518007 105518007 C T rs763911047 GPR132 Nonsynonymous SNV R147Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.449 234807 chr8 146278151 146278151 T C rs770989713 C8orf33 Synonymous SNV D62D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 234808 chr1 160616725 160616725 T C SLAMF1 Nonsynonymous SNV K4R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.427 234809 chr1 161010096 161010096 C T USF1 Nonsynonymous SNV A247T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 234810 chr7 552059 552059 G C rs375368814 PDGFA Nonsynonymous SNV A65G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.264 234811 chr15 34648389 34648389 A G NUTM1 Nonsynonymous SNV Q717R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.97 234812 chr7 6623017 6623017 T C rs144937586 ZDHHC4 Nonsynonymous SNV C151R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 234813 chr19 53352365 53352365 C T rs763480093 ZNF468 Synonymous SNV E39E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.2 234814 chr7 75187504 75187504 C T rs150253964 HIP1 Synonymous SNV E477E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 234815 chr15 40917497 40917497 A G KNL1 Nonsynonymous SNV T1679A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.901 234816 chr7 81358956 81358956 G A rs757186641 HGF Synonymous SNV H335H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 234817 chr7 90001472 90001472 C T rs564427153 GTPBP10 Synonymous SNV F77F 0 0 0.007 0 0 0 0 2 0 0 0 0 15.04 234818 chr15 89401825 89401825 T C rs35676128 ACAN Synonymous SNV Y2003Y 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 0.001 234819 chr1 17596862 17596862 G A rs769692697 PADI3 Nonsynonymous SNV G263R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 234820 chr7 94539857 94539857 G T PPP1R9A Nonsynonymous SNV K144N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 234821 chr4 70360984 70360984 G A UGT2B4 Nonsynonymous SNV S199L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 234822 chr7 94897945 94897945 C T rs150722853 PPP1R9A Nonsynonymous SNV R895C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 32 234823 chr11 4881165 4881165 C A OR51H1 Synonymous SNV G210G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 234824 chr7 98881562 98881562 G C rs928933151 MYH16 0 0 0.003 0 0 0 0 1 0 0 0 0 15.91 234825 chr15 50931675 50931675 G A rs372320968 TRPM7 Synonymous SNV I202I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 234826 chr15 55520874 55520874 A G rs376589113 RAB27A Synonymous SNV A92A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.786 234827 chr8 105503097 105503097 A G rs142053596 LRP12 Nonsynonymous SNV L776P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 234828 chr1 186648215 186648215 A G rs201906674 PTGS2 Synonymous SNV N96N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.58 234829 chr8 120650707 120650707 G C rs138726849 ENPP2 Nonsynonymous SNV R32G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 234830 chr8 121530338 121530338 C T rs888408209 MTBP Nonsynonymous SNV R832W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 234831 chr1 19505618 19505618 G A UBR4 Synonymous SNV L761L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.73 234832 chr19 57867618 57867618 G A rs146002273 ZNF304 Synonymous SNV S127S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 8.134 234833 chr19 58453794 58453794 G - rs768499228 ZNF256 Q128Nfs*29 0.001 0 0 2 1 0 0.005 0 0 0 0 0 234834 chr16 1825093 1825093 C T rs370196251 EME2 Nonsynonymous SNV R177W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 234835 chr19 58549511 58549511 C T rs147014137 ZSCAN1 Nonsynonymous SNV P103S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 234836 chr8 129061462 129061462 A G rs148236411 MIR1207 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 234837 chr15 72767215 72767223 GGCGGCGGC - rs761777712 ARIH1 G88_G90del 0.002 0 0 0 2 0 0 0 0 0 0 0 234838 chr19 58826141 58826141 G C rs544759744 ERVK3-1, ZNF8-ERVK3-1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.601 234839 chr11 6578493 6578493 C T rs754715223 DNHD1 Synonymous SNV C2656C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 234840 chr5 101631717 101631717 C T SLCO4C1 Nonsynonymous SNV E84K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 234841 chr5 101631718 101631718 A T SLCO4C1 Nonsynonymous SNV F83L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 234842 chr9 111714727 111714727 A G rs759774317 CTNNAL1 Synonymous SNV S559S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 234843 chr16 2140711 2140711 C T rs768370459 PKD1 Synonymous SNV V4033V 0 0 0 2 0 0 0.005 0 0 0 0 0 8.971 234844 chr5 110439910 110439910 T C WDR36 Synonymous SNV C311C 0 0.003 0 0 0 1 0 0 0 0 0 0 3.502 234845 chr19 804178 804178 C T PTBP1 Synonymous SNV T86T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.72 234846 chr8 144917849 144917849 G A rs540839087 NRBP2 Nonsynonymous SNV R497C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 234847 chr5 121188306 121188306 G T rs150109305 FTMT Synonymous SNV V216V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.205 234848 chr19 871087 871087 C T rs376802874 MED16 Synonymous SNV A755A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.86 234849 chr8 145583380 145583380 C T rs111588500 SLC52A2 Synonymous SNV D76D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.01 234850 chr16 348128 348128 G A rs748975424 AXIN1 Nonsynonymous SNV R460W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 234851 chr8 19362848 19362848 G T CSGALNACT1 Nonsynonymous SNV H166Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 234852 chr1 228345951 228345951 C T rs745407861 GJC2 Synonymous SNV G164G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 9.245 234853 chr1 1022932 1022932 C T rs370958516 C1orf159 Nonsynonymous SNV R65H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.087 234854 chr1 10231294 10231294 C T rs1056832345 UBE4B Synonymous SNV Y1015Y 0 0 0 2 0 0 0.005 0 0 0 0 0 14.3 234855 chr8 27373840 27373840 C T EPHX2 Nonsynonymous SNV P213S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 234856 chr8 28210738 28210738 G A rs766882746 ZNF395 Synonymous SNV T257T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 234857 chr16 57597845 57597845 A T ADGRG5 Nonsynonymous SNV E128V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 234858 chr16 57784797 57784797 C T rs34213816 KATNB1 Synonymous SNV Y116Y 0 0.003 0.003 3 0 1 0.008 1 0 0 0 0 11.39 234859 chr8 3165948 3165948 C A rs373923214 CSMD1 Nonsynonymous SNV D1237Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 234860 chr5 145719752 145719752 G A POU4F3 Synonymous SNV E254E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.777 234861 chr1 230810855 230810855 C T rs375093888 COG2 Synonymous SNV P337P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.823 234862 chr1 110944184 110944184 G A rs745585389 LAMTOR5 Synonymous SNV H161H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.02 234863 chr8 39312996 39312996 C G rs201472802 ADAM3A 0 0 0.01 0 0 0 0 3 0 0 1 0 0.25 234864 chr16 2051096 2051096 G A rs184444814 ZNF598 Synonymous SNV G370G 0.003 0 0 0 3 0 0 0 0 0 0 0 5.056 234865 chr16 2278494 2278494 C G rs146632512 E4F1 Synonymous SNV T93T 0.003 0 0 0 3 0 0 0 0 0 0 0 4.912 234866 chr5 149914574 149914574 G A NDST1 Synonymous SNV K414K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 234867 chr8 61655044 61655044 A G rs199880694 CHD7 Synonymous SNV V351V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 0.385 234868 chr16 4431593 4431593 C T rs778738863 VASN Nonsynonymous SNV R239W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 234869 chr16 74537573 74537573 G A GLG1 Synonymous SNV N199N 0 0 0 1 0 0 0.003 0 0 0 0 0 11 234870 chr1 23845566 23845566 G A rs139052092 E2F2 Nonsynonymous SNV T265I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 234871 chr8 91057089 91057089 C T rs762163418 DECR1 Nonsynonymous SNV R251C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 234872 chr16 8870225 8870225 C T rs2229158 ABAT Synonymous SNV L383L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.79 234873 chr16 10850632 10850632 A C NUBP1 Nonsynonymous SNV K138T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 234874 chr8 95650970 95650974 TAAAC - rs563925669 LOC100288748 0 0 0.024 0 0 0 0 7 0 0 3 0 234875 chr16 11145471 11145471 G A rs74163621 CLEC16A Synonymous SNV P638P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.46 234876 chr1 14107853 14107853 G T PRDM2 Nonsynonymous SNV G987V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 234877 chr1 14109209 14109209 A G rs999424937 PRDM2 Nonsynonymous SNV K1439R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.036 234878 chr5 172659671 172659671 G A NKX2-5 Synonymous SNV F292F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 234879 chr9 100080754 100080754 G A rs538935903 CCDC180 Nonsynonymous SNV M367I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 234880 chr9 100092876 100092876 G A rs746140918 CCDC180 Nonsynonymous SNV E745K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 234881 chr2 44436395 44436395 C T rs369307616 PPM1B Nonsynonymous SNV A11V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 234882 chr16 84050215 84050215 C G rs777086258 SLC38A8 Synonymous SNV V357V 0 0 0 3 0 0 0.008 0 0 0 0 0 1.423 234883 chr9 100857303 100857303 C T rs140240091 TRIM14 Synonymous SNV T182T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 234884 chr16 84203734 84203734 G A rs117114021 DNAAF1 Nonsynonymous SNV G198R 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.681 234885 chr9 104314989 104314989 C T rs139776458 RNF20 Nonsynonymous SNV R619W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234886 chr2 61259122 61259122 C G rs192034592 PEX13 Nonsynonymous SNV L221V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.32 234887 chr16 20966369 20966369 T G rs756758916 DNAH3 Nonsynonymous SNV T3567P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 234888 chr9 112189243 112189243 G A rs370526852 PTPN3 Nonsynonymous SNV R43W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 234889 chr9 114365255 114365255 C T LRRC37A5P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.452 234890 chr16 88666210 88666210 A G rs977988462 ZC3H18 Synonymous SNV K314K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.179 234891 chr5 32090821 32090821 C T PDZD2 Synonymous SNV L2423L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.25 234892 chr9 116224037 116224037 G A rs371153692 RGS3 Nonsynonymous SNV R44H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.675 234893 chr9 117110160 117110160 T C rs145218351 AKNA Nonsynonymous SNV Q962R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.8 234894 chr9 117129921 117129921 G C rs62640865 AKNA Nonsynonymous SNV L425V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 2.832 234895 chr9 6645368 6645368 G T GLDC Nonsynonymous SNV S44R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 234896 chr9 123550466 123550466 T C rs200594240 FBXW2 Nonsynonymous SNV Q24R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 234897 chr1 3428618 3428618 C T rs186311246 MEGF6 Nonsynonymous SNV V310M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 234898 chr9 124043861 124043861 A - rs141389312 GSN-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 234899 chr1 3670738 3670738 A G CCDC27 Synonymous SNV R125R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 234900 chr11 62656028 62656028 A T SLC3A2 Nonsynonymous SNV S485C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 234901 chr5 5464228 5464228 C G ICE1 Nonsynonymous SNV T1594R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.271 234902 chr1 160394031 160394031 G A rs139931744 VANGL2 Synonymous SNV L421L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 234903 chr16 67319386 67319386 C T rs756196555 PLEKHG4 Synonymous SNV L716L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 234904 chr16 67964673 67964673 G A rs764183944 CTRL Stop gain R92X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 234905 chr17 17697102 17697105 GCAG - rs775735568 RAI1 Q280Hfs*83 0.002 0 0 2 2 0 0.005 0 0 0 0 0 234906 chr17 17880924 17880924 G A rs373716910 DRC3 Synonymous SNV P4P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.063 234907 chr3 101568585 101568585 C T rs946224747 NFKBIZ Nonsynonymous SNV A38V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 234908 chr16 70305763 70305763 G A rs753033177 AARS1 Nonsynonymous SNV R198W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 234909 chr4 25819889 25819889 T G SEL1L3 Nonsynonymous SNV N444H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 234910 chr16 72156879 72156879 T C rs764958223 PMFBP1 Nonsynonymous SNV N901S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 234911 chr9 134360466 134360466 C T rs767565858 PRRC2B Synonymous SNV F1899F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.24 234912 chr11 66626094 66626094 G A LRFN4 Synonymous SNV L293L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.107 234913 chrX 15277041 15277041 G T ASB9 Nonsynonymous SNV H41N 0.002 0 0 0 2 0 0 0 1 0 0 0 23.8 234914 chr16 81241125 81241125 G C rs367547497 PKD1L2 Nonsynonymous SNV D292E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 234915 chr1 53608106 53608106 T C rs922045390 SLC1A7 Nonsynonymous SNV I6V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 234916 chr1 17609491 17609491 C T rs143886979 PADI3 Nonsynonymous SNV H638Y 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 234917 chr5 89769717 89769717 G C rs577351111 MBLAC2 Synonymous SNV P131P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.52 234918 chr1 55591172 55591172 T C rs200881564 USP24 Nonsynonymous SNV T1261A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 234919 chr9 139917197 139917197 A G ABCA2 Synonymous SNV S132S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.092 234920 chr9 140331381 140331381 C - rs556579838 ENTPD8 Q166Rfs*88 0.002 0 0.003 0 2 0 0 1 0 0 0 0 234921 chr16 88782074 88782074 T C rs34830861 PIEZO1 Nonsynonymous SNV K2502R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 25.6 234922 chr17 33747314 33747314 G A rs200992312 SLFN12 Nonsynonymous SNV R376W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 234923 chr1 182852302 182852302 C T DHX9 Synonymous SNV N981N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.51 234924 chr1 6520074 6520074 A G ESPN Synonymous SNV R811R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 234925 chr11 86152328 86152328 G C ME3 Nonsynonymous SNV T603R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.07 234926 chr9 32630140 32630140 A G TAF1L Nonsynonymous SNV L1813P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.82 234927 chr17 36666740 36666740 C T rs550175865 ARHGAP23 Synonymous SNV G1336G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.25 234928 chr1 197404064 197404064 C G CRB1 Nonsynonymous SNV T912R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 234929 chr1 200583451 200583451 G C rs770457124 KIF14 Nonsynonymous SNV Q484E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.65 234930 chr9 72047508 72047508 C T rs770422025 APBA1 Nonsynonymous SNV V796I 0 0 0.003 0 0 0 0 1 0 0 0 0 34 234931 chr1 201175345 201175345 G A IGFN1 Nonsynonymous SNV G442R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.907 234932 chr1 201180299 201180299 G T rs1043933260 IGFN1 Nonsynonymous SNV G2093V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.46 234933 chr9 77703643 77703643 G A OSTF1 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 234934 chr3 142521067 142521067 T G rs761343174 TRPC1 Synonymous SNV L512L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.018 234935 chr3 148897393 148897393 C T rs529607771 CP Nonsynonymous SNV D871N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 234936 chr1 204237433 204237433 C T rs778725986 PLEKHA6 Nonsynonymous SNV R37H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 32 234937 chr3 150876573 150876573 C A rs540093937 MED12L Nonsynonymous SNV P275Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 234938 chr9 88287476 88287476 T C rs367716084 AGTPBP1 Nonsynonymous SNV Y238C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 234939 chr4 996560 996560 C A rs115790973 IDUA Synonymous SNV T278T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 16.6 234940 chr3 153202355 153202355 T C C3orf79 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.49 234941 chr11 119050556 119050556 G A rs578051884 NLRX1 Nonsynonymous SNV R609H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 234942 chr11 119183355 119183355 G A rs185936018 MCAM Nonsynonymous SNV P248L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 234943 chr11 120328462 120328462 G A rs192719576 ARHGEF12 Nonsynonymous SNV R722Q 0.002 0 0 0 2 0 0 0 0 0 0 0 33 234944 chr9 98240378 98240378 C T rs142274954 PTCH1 Nonsynonymous SNV D436N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 234945 chrUn_gl000220 122141 122141 - TCGTCCTCC LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 234946 chrX 103495145 103495171 GCGCCATGGGCGGCCCGGGTGGCACAG - ESX1 P320_A328del 0 0 0.024 1 0 0 0.003 7 0 0 3 0 234947 chrX 117758569 117758569 G A rs769063811 DOCK11 Nonsynonymous SNV R1180Q 0 0 0.007 0 0 0 0 2 0 0 1 0 24.3 234948 chr17 7319004 7319004 C T rs770829525 NLGN2 Synonymous SNV S404S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 234949 chr1 17685879 17685879 G A rs776194576 PADI4 Synonymous SNV K578K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.105 234950 chrX 138668562 138668562 C T rs142128026 MCF2 Synonymous SNV A869A 0 0 0.007 0 0 0 0 2 0 0 1 0 12.78 234951 chr20 18449617 18449617 A C POLR3F Nonsynonymous SNV H31P 0.005 0.005 0 0 6 2 0 0 0 0 0 0 19.57 234952 chr17 7751435 7751435 C T KDM6B Nonsynonymous SNV P610L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.2 234953 chr3 184157066 184157066 G A LINC02054 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.059 234954 chr1 215749309 215749309 A C rs1033376217 KCTD3 Synonymous SNV L83L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.949 234955 chr1 216680397 216680397 G A ESRRG Synonymous SNV L170L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.133 234956 chr1 22180733 22180733 G C HSPG2 Nonsynonymous SNV T2132S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 234957 chr11 134153709 134153709 C T rs368280586 GLB1L3 Synonymous SNV D202D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 234958 chrX 37883200 37883200 A G rs73463468 MIR548AJ2 0 0 0.027 0 0 0 0 8 0 0 4 0 0.401 234959 chr20 30408142 30408142 G A rs115398036 MYLK2 Nonsynonymous SNV G89D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23 234960 chr12 2777988 2777988 T G CACNA1C-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 6.788 234961 chr1 24687371 24687371 C T rs138744711 STPG1 Nonsynonymous SNV A253T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.421 234962 chr17 16455252 16455252 C T rs543649828 ZNF287 Nonsynonymous SNV R687H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 234963 chr17 57262837 57262837 C T rs757814514 PRR11 Nonsynonymous SNV R106C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 234964 chr1 26670898 26670898 T C rs541946151 CRYBG2 Nonsynonymous SNV T751A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.465 234965 chrY 6958216 6958216 C T rs749192067 TBL1Y Synonymous SNV S511S 0 0 0.007 0 0 0 0 2 0 0 1 0 11.96 234966 chr17 61568577 61568577 C T rs3730043 ACE Nonsynonymous SNV T342M 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Benign/Likely benign 28.8 234967 chr17 19319260 19319260 C A RNF112 Synonymous SNV A556A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 234968 chr10 101981878 101981878 T A rs34427437 CHUK Nonsynonymous SNV S126C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 234969 chr6 3273314 3273314 G A SLC22A23 Nonsynonymous SNV T398M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 234970 chr20 3652365 3652365 T C rs55687415 ADAM33 Nonsynonymous SNV M590V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.036 234971 chr10 103826594 103826594 T C rs144777687 HPS6 Synonymous SNV L455L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 234972 chr10 1046643 1046643 C T rs753752140 GTPBP4 Synonymous SNV D227D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 234973 chr1 2316501 2316501 G A rs772157368 MORN1 Synonymous SNV N151N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.21 234974 chr3 39185166 39185166 G A rs769413886 CSRNP1 Nonsynonymous SNV P404S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.551 234975 chr17 26969924 26969924 T G KIAA0100 Nonsynonymous SNV S17R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 234976 chr17 33344621 33344621 T C rs201522952 RFFL Nonsynonymous SNV N199S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.979 234977 chr17 33747355 33747355 G T rs780046876 SLFN12 Stop gain S362X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 234978 chr1 43907730 43907730 G A rs757425191 SZT2 Nonsynonymous SNV R2544H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 13.75 234979 chr10 123239120 123239120 G A FGFR2 Nonsynonymous SNV P700L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 234980 chr12 18800862 18800862 T C rs200346918 PIK3C2G Nonsynonymous SNV V1413A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 234981 chr3 49897306 49897306 G A CAMKV Synonymous SNV V317V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.467 234982 chr12 46758242 46758242 A C SLC38A2 Nonsynonymous SNV V168G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.15 234983 chr1 62228777 62228777 T C PATJ Nonsynonymous SNV Y39H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.25 234984 chr3 50971444 50971444 C T DOCK3 Nonsynonymous SNV S84F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 234985 chr3 52469913 52469913 C T rs763946717 SEMA3G Synonymous SNV P685P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 234986 chr12 50347968 50347968 G A rs753295442 AQP2 Nonsynonymous SNV V131M 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 20.9 234987 chr12 50746000 50746000 A G rs776982407 FAM186A Synonymous SNV L1539L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.044 234988 chr6 90411763 90411763 C T rs777419093 MDN1 Synonymous SNV R2722R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.36 234989 chr12 51696488 51696488 C T BIN2 Synonymous SNV E72E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.696 234990 chr10 30654838 30654838 C G rs148079201 GOLGA2P6 0 0 0.003 0 0 0 0 1 0 0 0 0 2.359 234991 chr17 48741115 48741115 C G ABCC3 Nonsynonymous SNV L358V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 234992 chr10 32575890 32575890 A G EPC1 Synonymous SNV F402F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.504 234993 chr17 51902156 51902156 C T rs200509620 KIF2B Stop gain Q588X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 234994 chr17 56343597 56343597 C T rs372987674 LPO Nonsynonymous SNV R452C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 234995 chr1 36381002 36381002 A T AGO1 Synonymous SNV V554V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.1 234996 chr10 47087829 47087829 C T rs782743638 NPY4R, NPY4R2 Nonsynonymous SNV S349L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.208 234997 chr12 54379565 54379565 C T HOXC10 Synonymous SNV F174F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 234998 chr10 49393631 49393631 C T rs373060544 FRMPD2 Nonsynonymous SNV R750H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.816 234999 chr17 65574314 65574314 C T PITPNC1 Nonsynonymous SNV P103S 0.001 0 0 0 1 0 0 0 0 0 0 0 27 235000 chr18 21057049 21057049 A G RIOK3 Nonsynonymous SNV K402R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 235001 chr12 57589067 57589067 C T rs1800142 LRP1 Synonymous SNV C2774C 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 18.32 235002 chr12 57910632 57910632 C T rs141272899 DDIT3 Nonsynonymous SNV R180Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.2 235003 chr7 101840350 101840350 T G rs373780588 CUX1 Synonymous SNV T564T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.111 235004 chr1 118629566 118629566 C T rs138880128 SPAG17 Synonymous SNV G475G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.84 235005 chr10 75551201 75551201 C G ZSWIM8 Nonsynonymous SNV D421E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 235006 chr12 78334159 78334159 G A NAV3 Nonsynonymous SNV D102N 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 235007 chr18 47777192 47777192 A T CFAP53 Nonsynonymous SNV M311K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 235008 chr4 140188013 140188013 C T rs200237506 MGARP Nonsynonymous SNV E155K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.1 235009 chr17 76113354 76113354 C T TMC6 Nonsynonymous SNV S758N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.28 235010 chr1 151131692 151131692 C T rs148681307 TNFAIP8L2 Synonymous SNV D173D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.9 235011 chr6 116783522 116783522 C A rs534984948 CALHM6 Nonsynonymous SNV R144S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.607 235012 chr1 59812068 59812068 G A rs372475252 FGGY Nonsynonymous SNV E43K 0.004 0.003 0 3 5 1 0.008 0 0 0 0 0 23.5 235013 chr12 103872179 103872180 TG - rs775815137 C12orf42 Q9Kfs*34 0.002 0 0 2 2 0 0.005 0 0 0 0 0 235014 chr10 95517984 95517984 C T rs760266576 LGI1 Nonsynonymous SNV A28V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.338 235015 chr4 166981214 166981214 C T TLL1 Synonymous SNV G627G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.838 235016 chr10 98714729 98714729 C G rs61752726 LCOR Nonsynonymous SNV Q118E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.44 235017 chr22 29727818 29727818 C T rs757462238 AP1B1 Synonymous SNV T772T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 235018 chr1 65684544 65684544 C T rs780251417 AK4 Nonsynonymous SNV R73C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 28.1 235019 chr5 139201549 139201549 G A rs147817555 PSD2 Nonsynonymous SNV R390H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 235020 chr1 75038927 75038927 C T rs142960625 ERICH3 Nonsynonymous SNV E823K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 235021 chr18 6983146 6983146 C T rs745905632 LAMA1 Synonymous SNV S1916S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.22 235022 chr7 149571191 149571191 T C rs567839401 ATP6V0E2 Nonsynonymous SNV F62L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 235023 chr18 11752452 11752452 A G rs769324807 GNAL Nonsynonymous SNV N7S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 235024 chr11 102984849 102984849 A G DYNC2H1 Synonymous SNV R128R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.534 235025 chr11 104761095 104761095 A T rs142534265 CASP12 0 0 0.003 0 0 0 0 1 0 0 0 0 7.914 235026 chr11 104761921 104761921 T C rs115100183 CASP12 Nonsynonymous SNV I215V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 235027 chr11 104761987 104761987 C T rs140309344 CASP12 Nonsynonymous SNV D193N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 235028 chr11 104869651 104869651 C T rs45619739 CASP5 Nonsynonymous SNV E211K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.66 235029 chr7 158380257 158380257 C T rs758225793 PTPRN2 Synonymous SNV G35G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 235030 chr7 158380258 158380258 C T rs777546174 PTPRN2 Nonsynonymous SNV G35E 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 235031 chr18 29205594 29205594 G C rs770351981 B4GALT6 Nonsynonymous SNV P339A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 235032 chr11 1093311 1093311 - CCTACACCCACCGGCACACAGACCCCAACATCGACACCCATCAGCAACACCACTACGGTGACGCCAACA MUC2 T1720_P1721insSTPISNTTTVTPTPTPTGTQTPT 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 235033 chr1 93128401 93128401 C G EVI5 Nonsynonymous SNV E423Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.49 235034 chr18 43253782 43253782 G A rs200270182 SLC14A2 Nonsynonymous SNV A838T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 235035 chr11 121440946 121440946 G A rs781196070 SORL1 Nonsynonymous SNV D1102N 0 0 0.003 0 0 0 0 1 0 0 0 0 29 235036 chr13 45841403 45841403 G A rs139410191 GTF2F2 Synonymous SNV K174K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 13.88 235037 chr11 130289018 130289018 T C ADAMTS8 Nonsynonymous SNV Q297R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 235038 chr19 334454 334454 G A rs138495133 MIER2 Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.779 235039 chr7 55270367 55270367 A - rs17337514 EGFR H1062Pfs*40 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 235040 chr19 2222188 2222188 C T DOT1L Nonsynonymous SNV S1007F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 235041 chr19 868109 868109 G A rs151170454 MED16 Nonsynonymous SNV R876C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 235042 chr11 19735393 19735393 C T rs777730014 NAV2 Nonsynonymous SNV T51I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 235043 chr11 1977616 1977616 G C MRPL23 Nonsynonymous SNV R143P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 235044 chr7 73803434 73803434 G A rs782562882 CLIP2 Synonymous SNV A820A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.157 235045 chr2 1271270 1271270 A C SNTG2 Nonsynonymous SNV E404A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 235046 chr11 3063473 3063473 A C rs752811700 CARS Synonymous SNV R13R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 235047 chr11 30938566 30938566 G A rs756831734 DCDC1 Synonymous SNV H208H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.868 235048 chr11 32460296 32460296 T C rs768750893 WT1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 8.115 235049 chr5 118502365 118502365 G T rs148468898 DMXL1 Nonsynonymous SNV E1675D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 6.699 235050 chr5 126383530 126383530 A G rs146434018 C5orf63 Synonymous SNV A83A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.558 235051 chr5 126746209 126746209 G A rs78847357 MEGF10 Nonsynonymous SNV R349H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 235052 chr7 99691871 99691871 C G rs149624106 MCM7 Nonsynonymous SNV E415D 0 0.008 0 1 0 3 0.003 0 0 0 0 0 Likely benign 12.07 235053 chr7 99758040 99758040 G A rs140652132 GAL3ST4 Synonymous SNV D324D 0 0.008 0 1 0 3 0.003 0 0 0 0 0 Benign 8.382 235054 chr2 160673358 160673358 G A rs201441966 LY75, LY75-CD302 Nonsynonymous SNV R1447C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 235055 chr11 46782263 46782263 T C CKAP5 Synonymous SNV P1431P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.752 235056 chr19 38706883 38706883 G A rs561390958 DPF1 Synonymous SNV D248D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.21 235057 chr19 39804679 39804679 A C rs774866461 LRFN1 Nonsynonymous SNV L433R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 235058 chr19 40828037 40828037 C T rs757108966 C19orf47 Nonsynonymous SNV E341K 0 0 0 2 0 0 0.005 0 0 0 0 0 19.42 235059 chr14 51225309 51225309 T C rs557800080 NIN Synonymous SNV Q813Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.035 235060 chr8 12879466 12879466 G T rs772273235 TRMT9B Nonsynonymous SNV E300D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.567 235061 chr14 64519034 64519034 C T rs189676726 SYNE2 Synonymous SNV G2801G 0.003 0 0 0 4 0 0 0 0 0 0 0 11.38 235062 chr5 149498325 149498325 G A rs139623802 PDGFRB Synonymous SNV G899G 0.001 0.005 0.007 0 1 2 0 2 0 0 0 0 Benign 14.94 235063 chr8 143746192 143746192 G A rs781857287 JRK Nonsynonymous SNV P429L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.045 235064 chr11 556338 556338 C T LMNTD2 Nonsynonymous SNV E371K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 235065 chr19 9434880 9434880 C A ZNF559 Nonsynonymous SNV T9K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.508 235066 chr14 73413869 73413869 C T DCAF4 Nonsynonymous SNV A172V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 235067 chr19 4511639 4511639 T G PLIN4 Nonsynonymous SNV K778T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 235068 chr2 191905825 191905825 T G STAT4 Nonsynonymous SNV Q434P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 235069 chr19 11460335 11460335 C T rs536736427 CCDC159 Synonymous SNV P9P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.941 235070 chr19 12298365 12298365 C T ZNF136 Nonsynonymous SNV P325L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28 235071 chr19 12984568 12984568 C T MAST1 Synonymous SNV A1199A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 235072 chr19 14272401 14272401 T C ADGRL1 Synonymous SNV T411T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.874 235073 chr21 43708015 43708015 C T rs764757332 ABCG1 Synonymous SNV S330S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 235074 chr21 43711671 43711671 G A rs748557431 ABCG1 Nonsynonymous SNV V532M 0 0 0 1 0 0 0.003 0 0 0 0 0 17.48 235075 chr14 77845408 77845408 A T SAMD15 Nonsynonymous SNV E549D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.26 235076 chr19 48964925 48964925 A G rs374988223 KCNJ14 0 0 0 1 0 0 0.003 0 0 0 0 0 2.207 235077 chr11 607979 607979 C T rs764439874 PHRF1 Synonymous SNV S841S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 235078 chr14 95088735 95088735 C T rs372600839 SERPINA3 Synonymous SNV N325N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 235079 chr11 61106544 61106544 T C rs74878556 TKFC Nonsynonymous SNV I67T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 235080 chr11 61630518 61630518 C G FADS2 Synonymous SNV A297A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 235081 chr5 37231122 37231122 G A rs373704405 CPLANE1 Nonsynonymous SNV T323M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 235082 chr11 62744275 62744275 A G SLC22A6 Synonymous SNV N561N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.871 235083 chr11 62871750 62871750 C T rs753049206 SLC22A24 Nonsynonymous SNV R284Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 235084 chr2 220405338 220405338 C A rs546260513 CHPF Synonymous SNV L203L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.74 235085 chr11 63965390 63965390 T C rs778994563 STIP1 Nonsynonymous SNV Y370H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 235086 chr8 35406958 35406958 C T UNC5D Synonymous SNV F79F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 235087 chr2 73496660 73496660 G A FBXO41 Synonymous SNV H33H 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 4.825 235088 chr19 33289268 33289268 G A rs113739220 TDRD12 Nonsynonymous SNV S562N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 235089 chr19 33355542 33355542 C G rs34310174 SLC7A9 Synonymous SNV A76A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.871 235090 chr19 33406327 33406327 C T rs112339858 CEP89 Nonsynonymous SNV R494H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.602 235091 chr8 54754149 54754149 T C rs780902939 ATP6V1H Synonymous SNV Q34Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.213 235092 chr15 32929683 32929683 G A rs76126135 ARHGAP11A Synonymous SNV Q714Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.056 235093 chr19 33703794 33703794 G A rs143654746 SLC7A10 Synonymous SNV P157P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.334 235094 chr19 33793410 33793410 G A rs900736074 CEBPA Stop gain R6X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.198 235095 chr11 65628247 65628247 G A MUS81 Nonsynonymous SNV G8D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 235096 chr15 33916122 33916122 C T RYR3 Synonymous SNV V824V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.49 235097 chr2 86677040 86677040 A G rs758498958 KDM3A Synonymous SNV R99R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.072 235098 chr2 95719167 95719167 G A rs116607248 MAL Synonymous SNV A45A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.104 235099 chr2 232952240 232952240 A G rs201733073 DIS3L2 Nonsynonymous SNV Y137C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.53 235100 chr15 40328559 40328559 G A SRP14 Nonsynonymous SNV T129I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.872 235101 chr2 99013684 99013684 G A rs755545093 CNGA3 Nonsynonymous SNV G666E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.191 235102 chr11 67075192 67075192 A G rs373944304 SSH3 Nonsynonymous SNV S259G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 235103 chr15 41860522 41860522 C A TYRO3 Nonsynonymous SNV P312T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 235104 chr15 42453959 42453959 G A VPS39 Nonsynonymous SNV R825W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 235105 chr15 42984673 42984673 A G STARD9 Nonsynonymous SNV T3633A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 235106 chr22 40816532 40816532 G A rs920571135 MRTFA Synonymous SNV S310S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.718 235107 chr11 73068342 73068342 C T rs142639824 ARHGEF17 Synonymous SNV L1353L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 235108 chr22 41548328 41548328 C T rs770254783 EP300 Nonsynonymous SNV P1013L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 235109 chr19 38797565 38797565 A C rs534842925 YIF1B Synonymous SNV G282G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.028 235110 chr22 42276825 42276825 G A rs2229440 SREBF2 Nonsynonymous SNV V623M 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 22.8 235111 chr22 42342462 42342462 C T rs34730141 CENPM Synonymous SNV A32A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 21.5 235112 chr19 38948850 38948850 T G RYR1 Synonymous SNV P695P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.749 235113 chr11 7618597 7618597 C G PPFIBP2 Nonsynonymous SNV P10R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.128 235114 chr19 56600112 56600112 G A rs201036541 ZNF787 Synonymous SNV I143I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.691 235115 chr19 39664498 39664498 G A rs143998317 PAK4 Nonsynonymous SNV D163N 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 23.1 235116 chr11 76890902 76890902 G A rs371029653 MYO7A Nonsynonymous SNV R830H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 235117 chr2 25457190 25457190 G A rs61758432 DNMT3A Synonymous SNV R747R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Likely benign 7.751 235118 chr2 25471032 25471032 G A rs777100141 DNMT3A Synonymous SNV S91S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.36 235119 chr19 39994863 39994863 G A rs139297205 DLL3 Nonsynonymous SNV G269R 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.43 235120 chr19 40880477 40880477 C T rs369989744 PLD3 Synonymous SNV Y323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 235121 chr11 8060547 8060547 C T rs375735347 TUB Nonsynonymous SNV P43S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 235122 chr2 32530639 32530639 A G rs145264226 YIPF4 Nonsynonymous SNV I227V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.88 235123 chr2 33359852 33359852 G T rs147454469 LTBP1 Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 235124 chr11 89943737 89943737 A G rs201505675 CHORDC1 Synonymous SNV I134I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 235125 chr11 9202364 9202364 T C rs987102271 DENND5A Nonsynonymous SNV I445V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 235126 chr15 65494312 65494312 C T CILP Nonsynonymous SNV V362M 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 235127 chr11 94192599 94192599 G T rs61749249 MRE11 Nonsynonymous SNV A492D 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 235128 chr19 7692251 7692251 C G XAB2 Nonsynonymous SNV D134H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.3 235129 chr6 117662474 117662474 C A ROS1 Nonsynonymous SNV V1635F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 235130 chr9 123605096 123605096 G C rs151222283 PSMD5 Nonsynonymous SNV A31G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 235131 chr12 100904875 100904875 A G rs769153921 NR1H4 Synonymous SNV R143R 0 0 0.007 0 0 0 0 2 0 0 0 0 1.253 235132 chr12 101017908 101017908 C G rs367939035 GAS2L3 Nonsynonymous SNV P442R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 235133 chr2 55155572 55155572 G C EML6 Nonsynonymous SNV W1266C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 235134 chr12 101790200 101790200 G A rs375864214 ARL1 Synonymous SNV T118T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 235135 chr15 74707018 74707018 C T rs201055563 SEMA7A Synonymous SNV A374A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.43 235136 chr2 60688418 60688418 C G BCL11A Synonymous SNV L509L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 235137 chr2 64148362 64148362 T C rs774324244 VPS54 Nonsynonymous SNV K604R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 235138 chr9 126125202 126125202 C T rs759815636 CRB2 Synonymous SNV T51T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.54 235139 chr2 173825951 173825951 A G rs35955389 RAPGEF4 Synonymous SNV T11T 0.003 0 0.007 4 3 0 0.01 2 0 0 0 0 Benign 1.266 235140 chr2 175111506 175111506 G A rs557878124 OLA1 Nonsynonymous SNV P13L 0.003 0 0 3 3 0 0.008 0 0 0 0 0 21.7 235141 chr9 130166037 130166037 C T rs201517284 SLC2A8 Synonymous SNV A111A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 235142 chr19 48025222 48025222 A G ZNF541 Synonymous SNV V1200V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.165 235143 chr6 147637532 147637532 A G rs543888569 STXBP5 Synonymous SNV V597V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.39 235144 chr12 112337362 112337362 C T rs9971746 ADAM1A 0 0 0.02 0 0 0 0 6 0 0 2 0 8.791 235145 chr9 131745202 131745202 G A rs752755128 NUP188 Nonsynonymous SNV R564Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 235146 chr19 48848478 48848478 G A rs201136034 TMEM143 Nonsynonymous SNV P133L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.566 235147 chr2 86426629 86426629 T G rs34804805 MRPL35 Nonsynonymous SNV F6V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 235148 chr12 116446715 116446715 T C rs538329234 MED13L Synonymous SNV Q501Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.007 235149 chr2 122038810 122038810 G A TFCP2L1 Nonsynonymous SNV P34S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.85 235150 chr6 153365116 153365116 G A rs765155327 RGS17 Nonsynonymous SNV P13L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.1 235151 chr2 133489552 133489552 G C NCKAP5 Nonsynonymous SNV S415W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.9 235152 chr1 101004670 101004670 G A rs781204817 GPR88 Nonsynonymous SNV G50S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.2 235153 chr12 124914216 124914216 C T rs766925596 NCOR2 Synonymous SNV S363S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 235154 chr12 125561050 125561050 C T rs200646490 AACS Nonsynonymous SNV S84L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 235155 chr2 15607894 15607894 T C rs147552737 NBAS Nonsynonymous SNV I638V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 235156 chr12 13197352 13197352 G C rs778726610 FAM234B Synonymous SNV L5L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 235157 chr12 132623837 132623837 G A rs367943590 DDX51 Nonsynonymous SNV R661C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 235158 chr16 700103 700103 T C WDR90 Nonsynonymous SNV L72P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 235159 chr3 119373389 119373389 C T rs144241265 POPDC2 Stop gain W188X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 235160 chr9 15486882 15486884 TTC - rs762691462 PSIP1 E112del 0 0.003 0 0 0 1 0 0 0 0 0 0 235161 chr12 29625986 29625986 A G rs375585726 OVCH1 Nonsynonymous SNV S586P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 235162 chr3 126202272 126202272 G A rs545914298 UROC1 Synonymous SNV D610D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.108 235163 chr12 43837671 43837673 ACA - rs750333625 ADAMTS20 V738del 0 0 0.003 0 0 0 0 1 0 0 0 0 235164 chr2 179549423 179549423 T C TTN Nonsynonymous SNV I9626V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.371 235165 chr16 8952240 8952240 T A rs146191032 CARHSP1 Nonsynonymous SNV D83V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 235166 chr12 52600297 52600297 C T rs145158327 C12orf80 0 0 0.02 0 0 0 0 6 0 0 0 0 16.93 235167 chr12 52711539 52711539 G A rs192947508 KRT83 Nonsynonymous SNV R226C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 26.1 235168 chr2 189599203 189599203 A G rs187011988 DIRC1 0 0 0 1 0 0 0.003 0 0 0 0 0 1.742 235169 chr2 191859935 191859935 C T rs41473544 STAT1 Nonsynonymous SNV V266I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.027 235170 chr12 54379678 54379678 A G rs78002127 HOXC10 Nonsynonymous SNV N212S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.002 235171 chr19 59011968 59011968 C T rs772494992 SLC27A5 Nonsynonymous SNV E346K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 235172 chr20 371939 371939 C T rs745664460 TRIB3 Synonymous SNV P100P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 235173 chr3 165547980 165547980 G C BCHE Nonsynonymous SNV S281C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.212 235174 chr12 56077730 56077730 A G rs113734960 METTL7B Nonsynonymous SNV D211G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 235175 chr2 204261660 204261660 C A rs575221108 ABI2 Nonsynonymous SNV P329T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.76 235176 chrX 123517716 123517716 G A TENM1 Synonymous SNV D2348D 0 0.01 0 0 0 4 0 0 0 2 0 0 0.186 235177 chr3 3179091 3179091 G A TRNT1 Nonsynonymous SNV R99Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 235178 chr3 182871471 182871471 G A rs760759246 LAMP3 Nonsynonymous SNV S253L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 235179 chr2 211464184 211464184 A G rs764789960 CPS1 Nonsynonymous SNV Y483C 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 235180 chr16 56438922 56438922 C T rs149927445 AMFR Nonsynonymous SNV E247K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 235181 chrX 149639713 149639713 G A rs145175147 MAMLD1 Nonsynonymous SNV R598H 0.002 0.005 0 0 2 2 0 0 1 1 0 0 26.5 235182 chr12 69199075 69199075 C T rs548189692 LOC100130075 0 0 0.003 0 0 0 0 1 0 0 0 0 9.246 235183 chr16 57689386 57689386 G C rs146704802 ADGRG1 Nonsynonymous SNV G287R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.381 235184 chr12 6935419 6935419 C G GPR162 Nonsynonymous SNV N88K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.571 235185 chrX 153296295 153296295 G A rs61751442 MECP2 Synonymous SNV L340L 0 0.005 0.007 0 0 2 0 2 0 1 1 0 Benign 1.537 235186 chr12 6993650 6993650 A G RPL13P5 0 0 0.003 0 0 0 0 1 0 0 0 0 7.377 235187 chr12 72013858 72013858 G C rs747031844 ZFC3H1 Nonsynonymous SNV P1633A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 235188 chr3 25660250 25660250 C T rs776314891 TOP2B Nonsynonymous SNV G1047S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 19.04 235189 chr16 67997452 67997452 G C rs138697349 SLC12A4 Nonsynonymous SNV N42K 0.002 0 0 0 2 0 0 0 0 0 0 0 18.9 235190 chr20 21377712 21377712 C G rs201962740 NKX2-4 Nonsynonymous SNV S109T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.25 235191 chr16 71602181 71602181 C G rs772064635 TAT Nonsynonymous SNV E411Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.15 235192 chr12 85450846 85450846 A C LRRIQ1 Nonsynonymous SNV N759H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.287 235193 chrX 49963340 49963340 G C rs782114976 AKAP4 Nonsynonymous SNV P31A 0.001 0.005 0 0 1 2 0 0 0 1 0 0 20.7 235194 chr16 75203150 75203150 G A rs376111231 ZFP1 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 235195 chr12 93398323 93398323 G A rs148962626 LOC643339 0 0 0.003 0 0 0 0 1 0 0 0 0 3.486 235196 chrX 9679802 9679802 A G TBL1X Nonsynonymous SNV I480V 0 0.005 0 0 0 2 0 0 0 1 0 0 21.8 235197 chr2 228680275 228680275 A G rs148327362 CCL20 Nonsynonymous SNV N60S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.96 235198 chr2 231090591 231090591 C G rs757920279 SP140 Nonsynonymous SNV A11G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23 235199 chr3 38039120 38039120 C T rs767058360 VILL Synonymous SNV A66A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 235200 chr16 86545040 86545040 C T rs745948015 FOXF1 Nonsynonymous SNV P289S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.86 235201 chr13 111642786 111642786 T C rs3783096 LINC00431 0 0 0.037 0 0 0 0 11 0 0 5 0 0.905 235202 chr13 114434253 114434253 C T rs768880180 GRK1 Synonymous SNV A377A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 235203 chr10 112595706 112595706 C T RBM20 Synonymous SNV I1218I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.63 235204 chr13 114792886 114792886 G A rs143090287 RASA3 Synonymous SNV F162F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 235205 chr16 88793487 88793487 G A rs756869715 PIEZO1 Nonsynonymous SNV R1139W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 235206 chr16 89016665 89016665 - TCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGA LOC100129697 Frameshift insertion G69Dfs*367 0.001 0 0 0 1 0 0 0 0 0 0 0 235207 chr10 119799800 119799800 T C rs138817258 RAB11FIP2 Synonymous SNV K210K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.07 235208 chr2 241974087 241974087 G A SNED1 Nonsynonymous SNV G249R 0 0 0 1 0 0 0.003 0 0 0 0 0 32 235209 chr2 242079959 242079959 T C rs149007060 PASK Nonsynonymous SNV T136A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 235210 chr10 123670610 123670610 T C ATE1 Nonsynonymous SNV N36D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.2 235211 chr13 40268845 40268845 T G rs886050227 COG6 Nonsynonymous SNV F383L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.3 235212 chr10 127462404 127462404 C G MMP21 Synonymous SNV G231G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.636 235213 chr3 47452890 47452890 C T rs200392155 PTPN23 Nonsynonymous SNV A1075V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23 235214 chr3 88202512 88202512 A C rs146391714 C3orf38 Nonsynonymous SNV H89P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.646 235215 chr3 48682975 48682975 G T rs572778464 CELSR3 Nonsynonymous SNV S2566R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 235216 chr17 3195672 3195672 G A rs771085179 OR3A1 Synonymous SNV L69L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.119 235217 chr2 32475770 32475770 C T rs565573487 NLRC4 Nonsynonymous SNV R388Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.276 235218 chr2 38156445 38156445 T C rs61743792 RMDN2 Synonymous SNV L9L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.69 235219 chr21 28337981 28337981 G A rs115293689 ADAMTS5 Nonsynonymous SNV L244F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.001 235220 chr17 4496444 4496444 G A rs141235426 SMTNL2 Synonymous SNV T236T 0.004 0 0 0 5 0 0 0 0 0 0 0 14.07 235221 chr14 102018853 102018863 GGGGAGGGGTA - rs373257292 DIO3OS 0 0 0.003 0 0 0 0 1 0 0 0 0 235222 chr14 102024318 102024318 - G rs561267781 DIO3OS 0 0 0.003 0 0 0 0 1 0 0 0 0 235223 chr14 102698912 102698912 C T rs370359047 MOK Nonsynonymous SNV A42T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 235224 chr3 55513454 55513454 G A rs369759520 WNT5A Synonymous SNV I78I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.07 235225 chr14 102964041 102964041 G A rs753581977 TECPR2 Nonsynonymous SNV V1356M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 235226 chr14 103395123 103395123 C T rs7140429 AMN Synonymous SNV D108D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.16 235227 chr3 57494119 57494119 T C rs7629743 DNAH12 Nonsynonymous SNV T231A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.43 235228 chr3 57640484 57640484 C A rs115323610 PDE12 Nonsynonymous SNV N507K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.722 235229 chr3 58134488 58134488 T C rs140926445 FLNB Synonymous SNV G1976G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.277 235230 chr14 104605487 104605487 T G rs7146218 KIF26A Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.492 235231 chr14 104643709 104643709 C T rs61741213 KIF26A Synonymous SNV G1528G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 235232 chr14 105878015 105878015 G C TEX22 Nonsynonymous SNV A100P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 235233 chr21 37617740 37617740 G A rs140264197 DOP1B Synonymous SNV A1154A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.19 235234 chr17 7680184 7680184 C T rs763080669 DNAH2 Nonsynonymous SNV L1679F 0.002 0 0 0 2 0 0 0 0 0 0 0 31 235235 chr21 41385175 41385175 A C rs560448697 DSCAM Nonsynonymous SNV V1924G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 235236 chr3 9792102 9792102 T C rs777130697 OGG1 Synonymous SNV S44S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.596 235237 chr3 9792744 9792744 G T rs17050550 OGG1 Nonsynonymous SNV A85S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 235238 chr17 8248783 8248783 T C rs745908466 ODF4 Nonsynonymous SNV Y78H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.774 235239 chr14 21555544 21555544 C T rs369244074 ARHGEF40 Nonsynonymous SNV L723F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 235240 chr14 21827763 21827763 G A rs116488615 SUPT16H Synonymous SNV A727A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.58 235241 chr17 10360875 10360875 C T rs745672744 MYH4 Nonsynonymous SNV G587S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 235242 chr17 10363560 10363560 A T rs142060534 MYH4 Nonsynonymous SNV V409D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 235243 chr17 10416998 10416998 G A MYH1 Synonymous SNV F250F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 235244 chr17 15212021 15212021 G A rs191608987 TEKT3 Nonsynonymous SNV R406W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 235245 chr17 18087698 18087698 C T ALKBH5 Synonymous SNV A47A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 235246 chr17 18221201 18221201 G A rs137890085 SMCR8 Nonsynonymous SNV D700N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 235247 chr14 33005009 33005009 G A AKAP6 Nonsynonymous SNV E192K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 235248 chr4 128605577 128605577 C T rs769527789 INTU Nonsynonymous SNV R399C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 235249 chr17 27909030 27909030 T C GIT1 Nonsynonymous SNV T180A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.59 235250 chr10 74914086 74914086 T C rs765766023 ECD Synonymous SNV L237L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.226 235251 chr22 28394739 28394739 G C TTC28 Nonsynonymous SNV D1636E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 235252 chr22 28692253 28692253 T C rs1013913402 TTC28 Nonsynonymous SNV N289S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.339 235253 chr1 248487054 248487054 T G OR2M7 Nonsynonymous SNV M273L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.29 235254 chr14 71137799 71137799 A G rs201118902 TTC9 Nonsynonymous SNV N199S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 235255 chr10 95987180 95987180 G T rs61886330 PLCE1 Nonsynonymous SNV A335S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 235256 chr10 98744607 98744607 G A rs752013833 LCOR Nonsynonymous SNV A1464T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.025 235257 chr1 28212428 28212428 A G rs200671746 THEMIS2 Nonsynonymous SNV I643V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.007 235258 chr1 28857060 28857060 C G rs745575203 RCC1 Synonymous SNV R33R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 235259 chr1 28862424 28862424 G T RCC1 Stop gain G235X 0 0 0 1 0 0 0.003 0 0 0 0 0 41 235260 chr14 93720030 93720030 C T rs759339337 BTBD7 Nonsynonymous SNV R221H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 235261 chr14 95028106 95028106 G A rs374982587 SERPINA4 Synonymous SNV A18A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.261 235262 chr15 101112192 101112192 G A rs202005410 LINS1 Nonsynonymous SNV P434L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.694 235263 chr1 39341753 39341753 G A rs766850745 GJA9 Synonymous SNV L6L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.637 235264 chr8 104948899 104948899 C G rs542654985 RIMS2 Synonymous SNV T671T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 235265 chr15 25328619 25328619 G A rs541741391 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.854 235266 chr15 25496085 25496085 C T SNORD115-44 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 235267 chr1 42925448 42925448 C T rs375090300 PPCS Stop gain R90X 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 39 235268 chr1 43890466 43890466 C A SZT2 Nonsynonymous SNV S828Y 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 26.3 235269 chr1 45516839 45516839 C T rs374083273 ZSWIM5 Nonsynonymous SNV D447N 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 24.3 235270 chr3 16237349 16237349 C A rs144320995 GALNT15 Nonsynonymous SNV L208M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 235271 chr15 41342243 41342243 G A rs763517504 INO80 Synonymous SNV L778L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.986 235272 chr15 42147755 42147755 G A SPTBN5 Synonymous SNV N3070N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.032 235273 chr17 61417550 61417550 G A rs200481329 TANC2 Nonsynonymous SNV R481H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 235274 chr15 43299476 43299476 T C rs145695710 UBR1 Synonymous SNV P1072P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.012 235275 chr15 44058990 44058990 C T rs770010677 PDIA3 Nonsynonymous SNV R304C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 235276 chr1 6209076 6209076 G A rs768912722 CHD5 Synonymous SNV G407G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 235277 chr15 49308787 49308787 T C rs758339206 SECISBP2L Nonsynonymous SNV I466V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 235278 chr3 186507827 186507827 A G rs1015908427 RFC4 Synonymous SNV G341G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.192 235279 chr15 51790751 51790751 G A rs765137113 DMXL2 Nonsynonymous SNV S1557L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 235280 chr15 52472297 52472297 G C rs72734919 CERNA1 0 0 0.01 0 0 0 0 3 0 0 0 0 8.468 235281 chr15 57731454 57731454 C G CGNL1 Synonymous SNV L419L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 235282 chr15 57924640 57924640 G A rs764903264 GCOM1, MYZAP Synonymous SNV S229S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 235283 chrX 63411958 63411958 A G AMER1 Synonymous SNV D403D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 235284 chrX 63412463 63412463 G A AMER1 Nonsynonymous SNV P235L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 235285 chr15 65868677 65868677 G A rs200829921 HACD3 Nonsynonymous SNV R350H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 235286 chr15 65892262 65892262 G A INTS14 Synonymous SNV V33V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 235287 chr1 85039997 85039997 C T rs545745384 CTBS Synonymous SNV R34R 0.001 0.003 0 4 1 1 0.01 0 0 0 0 0 Benign 11.65 235288 chr17 75471906 75471906 C T SEPTIN9 Synonymous SNV V102V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.249 235289 chr17 76355052 76355052 T C rs771414561 SOCS3 Nonsynonymous SNV Q42R 0.003 0 0 0 3 0 0 0 0 0 0 0 14.18 235290 chr15 72638945 72638945 G C rs201471936 HEXA Nonsynonymous SNV A418G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 235291 chr17 76557926 76557928 GCC - rs756061425 DNAH17 A569del 0.002 0 0 0 2 0 0 0 0 0 0 0 235292 chr17 79073850 79073850 G A rs111402402 BAIAP2 Synonymous SNV V204V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.945 235293 chr17 79095009 79095009 C T rs74802646 AATK Synonymous SNV P806P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.91 235294 chr17 79225309 79225309 C T rs371648908 SLC38A10 Synonymous SNV A683A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.11 235295 chr15 83660739 83660739 G A rs554777687 C15orf40 Synonymous SNV P142P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.46 235296 chrX 153691986 153691986 C T PLXNA3 Synonymous SNV C500C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.086 235297 chrX 154091435 154091435 C T rs782217392 F8 Nonsynonymous SNV R31Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 235298 chr10 101716409 101716409 C T rs369854167 DNMBP Synonymous SNV A274A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.59 235299 chr10 103868024 103868024 G A rs145583738 LDB1 Synonymous SNV D354D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.602 235300 chr10 104129998 104129998 T C GBF1 Nonsynonymous SNV M1136T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 235301 chr20 17639917 17639917 - GCCTTTTTGCCCTGGTTCTGGGCACCCTCA RRBP1 K471_V472insAEGAQNQGKK 0 0 0 1 0 0 0.003 0 0 0 0 0 235302 chr4 119952896 119952896 C T SYNPO2 Nonsynonymous SNV P989L 0 0 0 1 0 0 0.003 0 0 0 0 0 14 235303 chr15 89849409 89849409 C G rs757106031 FANCI Nonsynonymous SNV T1114R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 235304 chr15 90170309 90170309 G A TICRR Nonsynonymous SNV D1908N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.455 235305 chr4 123663069 123663069 G A BBS12 Nonsynonymous SNV V8I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.419 235306 chr10 106075175 106075175 A G rs760582928 ITPRIP Nonsynonymous SNV V212A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25 235307 chr4 139100407 139100407 A G rs748428954 SLC7A11 Nonsynonymous SNV W470R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25 235308 chr18 13069737 13069737 G A rs202073683 CEP192 Nonsynonymous SNV V1686I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.64 235309 chr15 97940960 97940960 C T rs754718407 LINC02254 0 0 0.003 0 0 0 0 1 0 0 0 0 8.402 235310 chr18 25583117 25583117 G A rs750197887 CDH2 Synonymous SNV T257T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.02 235311 chr5 140572513 140572513 G T rs147241878 PCDHB10 Nonsynonymous SNV A130S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.045 235312 chr5 140779597 140779597 C T rs201599536 PCDHGB5 Nonsynonymous SNV R635C 0.002 0 0 0 2 0 0 0 0 0 0 0 10.78 235313 chr4 166418725 166418725 A G rs140816537 CPE Nonsynonymous SNV E465G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25 235314 chr3 73433599 73433599 G A PDZRN3 Synonymous SNV H404H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.839 235315 chr18 47376071 47376071 G A rs770071787 SNHG22 0.003 0 0 0 3 0 0 0 0 0 0 0 2.04 235316 chr3 9793574 9793574 G A rs768571461 OGG1 Nonsynonymous SNV R169Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.43 235317 chr16 27236494 27236494 C A rs888675127 NSMCE1 Nonsynonymous SNV R262L 0 0 0.007 0 0 0 0 2 0 0 0 0 28.6 235318 chr16 2812537 2812537 C T rs369700013 SRRM2 Nonsynonymous SNV R670C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 235319 chr16 2848546 2848546 C T rs756773582 PRSS41 Nonsynonymous SNV P21S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.077 235320 chr20 56082683 56082683 C T CTCFL Nonsynonymous SNV G470S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.858 235321 chr16 2946476 2946476 A C rs762626220 FLYWCH2 Nonsynonymous SNV Q9P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 235322 chr9 116750631 116750631 C G rs149113651 ZNF618 Synonymous SNV T36T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.39 235323 chr9 117138957 117138957 C T rs369113500 AKNA Nonsynonymous SNV R258H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.82 235324 chr10 21806187 21806187 A G rs377557900 SKIDA1 Nonsynonymous SNV C189R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.071 235325 chr10 22896940 22896940 C T rs144285441 PIP4K2A Synonymous SNV P26P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.43 235326 chr11 5444137 5444137 G A rs141547549 OR51Q1 Nonsynonymous SNV R236Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.5 235327 chr18 77664006 77664006 G T SLC66A2 Synonymous SNV A244A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.226 235328 chr5 14387740 14387740 C T rs201215276 TRIO Nonsynonymous SNV S1255L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 235329 chr16 4432512 4432512 A C rs974963282 VASN Nonsynonymous SNV E545A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.298 235330 chr5 176520291 176520291 G C FGFR4 Nonsynonymous SNV A404P 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.486 235331 chr5 176520294 176520294 A C FGFR4 Nonsynonymous SNV T405P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 235332 chr5 176520296 176520296 T C FGFR4 Synonymous SNV T405T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 235333 chr20 61944548 61944548 C T rs377187630 COL20A1 Nonsynonymous SNV A719V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 235334 chr20 61992509 61992509 T C rs80075498 CHRNA4 Synonymous SNV L3L 0.003 0 0 1 3 0 0.003 0 1 0 0 0 Benign/Likely benign 0.389 235335 chr20 62046362 62046362 G A rs370155790 KCNQ2 Synonymous SNV L445L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign/Likely benign 10.05 235336 chr16 53468540 53468540 G T rs531817868 RBL2 Nonsynonymous SNV E24D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 235337 chr20 62577958 62577958 A C rs375439635 UCKL1 Nonsynonymous SNV V36G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.34 235338 chr19 2078446 2078446 C T rs774857735 MOB3A Synonymous SNV S38S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 235339 chr16 57795009 57795009 C T rs17854090 KIFC3 Synonymous SNV A547A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 235340 chr19 2934240 2934240 C T rs376957532 ZNF77 Synonymous SNV P295P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.9 235341 chr5 32711988 32711988 G C rs781759315 NPR3 Nonsynonymous SNV A36P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.795 235342 chr19 3623964 3623964 C G CACTIN Nonsynonymous SNV G122R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.305 235343 chr4 166300436 166300436 G T rs896963496 CPE Nonsynonymous SNV W21C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 235344 chr21 37833694 37833694 G A rs113350364 CLDN14 Synonymous SNV I100I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.085 235345 chr1 86954802 86954802 G A CLCA1 Nonsynonymous SNV A436T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 235346 chr9 137717708 137717708 C G rs560774273 COL5A1 Synonymous SNV A1675A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.74 235347 chr5 56778405 56778405 C T rs145144528 ACTBL2 Nonsynonymous SNV V44I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.56 235348 chr16 83065752 83065752 C T rs201332621 CDH13 Nonsynonymous SNV R99W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 235349 chr5 94918825 94918825 C T ARSK Nonsynonymous SNV H208Y 0 0 0 1 0 0 0.003 0 0 0 0 0 31 235350 chr11 59283067 59283067 C G rs146561258 OR4D9 Nonsynonymous SNV H228D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23 235351 chr16 84493082 84493082 G T rs750091438 ATP2C2-AS1 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.725 235352 chr19 8160362 8160362 C T rs769344190 FBN3 Synonymous SNV V1894V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.515 235353 chr9 140509209 140509209 G A rs151308611 ARRDC1 Nonsynonymous SNV V332I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.4 235354 chr16 88494841 88494841 C T rs758193918 ZNF469 Synonymous SNV G321G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.504 235355 chr16 8862747 8862747 A G rs775296444 ABAT Nonsynonymous SNV I245V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 235356 chr19 8999438 8999438 A G MUC16 Synonymous SNV T13579T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 235357 chr19 8999499 8999500 CT - MUC16 S13559Pfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 235358 chr19 8999503 8999503 - AGA MUC16 P13557_K13558insS 0.001 0 0 0 1 0 0 0 0 0 0 0 235359 chr19 8999507 8999507 A - MUC16 S13559Afs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 235360 chr16 88781288 88781288 T C rs764094808 CTU2 Nonsynonymous SNV I371T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 235361 chr19 8999519 8999519 G A MUC16 Synonymous SNV T13552T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.514 235362 chr10 96541583 96541583 C G rs576823729 CYP2C19 Nonsynonymous SNV C216W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 235363 chr5 125820103 125820103 C T rs763010079 GRAMD2B Nonsynonymous SNV A182V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 235364 chr22 19132139 19132139 G A ESS2 Synonymous SNV G5G 0 0 0 3 0 0 0.008 0 0 0 0 0 8.383 235365 chr19 9028306 9028306 C G rs117101489 MUC16 Synonymous SNV L12162L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.653 235366 chr5 132052030 132052030 C T rs145922811 KIF3A Synonymous SNV L287L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.12 235367 chr16 89960263 89960263 C T rs138375994 TCF25 Synonymous SNV I275I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 235368 chr16 90095597 90095597 - GGGGCAGGCTGC rs71137702 GAS8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 235369 chr17 10538823 10538823 G A rs199851477 MYH3 Nonsynonymous SNV R1345W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 235370 chr19 10433379 10433379 T C rs150673789 RAVER1 Nonsynonymous SNV N372S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.002 235371 chr17 1613414 1613414 G A rs775012925 TLCD2 Synonymous SNV N41N 0 0 0.007 0 0 0 0 2 0 0 0 0 1.699 235372 chr17 1615641 1615641 C T rs377016022 MIR22HG 0 0 0.007 0 0 0 0 2 0 0 0 0 5.965 235373 chr17 1630389 1630389 G A rs543853235 WDR81 Synonymous SNV G712G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.154 235374 chr17 1630507 1630507 C T rs200781463 WDR81 Nonsynonymous SNV P752S 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.053 235375 chr17 1631124 1631124 T C rs369322431 WDR81 Synonymous SNV N957N 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.036 235376 chr17 1657516 1657516 G A rs150688695 SERPINF2 Synonymous SNV E324E 0.003 0.003 0.01 0 3 1 0 3 0 0 0 0 Benign 1.1 235377 chr19 11333684 11333684 C T rs369415057 DOCK6 Synonymous SNV R1018R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 16.22 235378 chr11 66590084 66590084 T C C11orf80 Nonsynonymous SNV M338T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.09 235379 chr17 19582191 19582191 G A rs373867315 SLC47A2 Synonymous SNV T503T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.427 235380 chr11 68579994 68579994 G A rs142691028 CPT1A Synonymous SNV I64I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 18.9 235381 chr11 68582838 68582838 T C CPT1A Synonymous SNV G35G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 8.353 235382 chr4 77252511 77252511 A G rs754208793 CCDC158 Synonymous SNV S972S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.463 235383 chr17 2268585 2268587 CCA - rs748630050 SGSM2 T414del 0 0 0.003 0 0 0 0 1 0 0 0 0 235384 chr19 16552749 16552749 G A rs773070641 EPS15L1 Nonsynonymous SNV A40V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 235385 chr19 16631200 16631200 G A rs201289066 CHERP Nonsynonymous SNV R774C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 235386 chr17 27380056 27380056 C T rs770496182 PIPOX Nonsynonymous SNV R128C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 235387 chr1 160104978 160104978 A G ATP1A2 Nonsynonymous SNV M670V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.1 235388 chr17 33343516 33343516 C A rs759610023 RFFL Synonymous SNV L253L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 235389 chr11 12246239 12246239 C A rs551546075 MICAL2 Nonsynonymous SNV S520R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 235390 chr11 12246240 12246240 A G rs571399686 MICAL2 Nonsynonymous SNV K521E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 235391 chr17 36666694 36666694 G A rs533687185 ARHGAP23 Nonsynonymous SNV R1321H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 235392 chr22 44285223 44285223 G T rs773920705 PNPLA5 Nonsynonymous SNV P116T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 235393 chr19 19407960 19407960 G A SUGP1 Nonsynonymous SNV P361S 0.003 0 0 0 3 0 0 0 0 0 0 0 6.421 235394 chr4 967075 967075 C T DGKQ Nonsynonymous SNV V66M 0 0 0 1 0 0 0.003 0 0 0 0 0 25 235395 chr5 10260908 10260908 A T rs148752621 CCT5 Nonsynonymous SNV K238I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.8 235396 chr11 92577262 92577262 G C FAT3 Nonsynonymous SNV D3577H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 235397 chr5 131729466 131729466 C T rs200479243 SLC22A5 Nonsynonymous SNV L517F 0 0 0 1 0 0 0.003 0 0 0 0 0 33 235398 chr19 36340152 36340152 G A rs201881730 NPHS1 Synonymous SNV L276L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.188 235399 chr17 42284701 42284703 TCG - rs777305639 UBTF D697del 0 0 0.003 0 0 0 0 1 0 0 0 0 235400 chr6 24418387 24418387 C T rs981110178 MRS2 Synonymous SNV D254D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 235401 chr5 138209977 138209977 G A rs746671869 LRRTM2 Synonymous SNV H91H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 235402 chr12 105605026 105605026 G A rs138491961 APPL2 Stop gain R119X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 39 235403 chr6 25726598 25726598 G A rs375336327 H2AC1 Nonsynonymous SNV A53V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 235404 chr12 10659320 10659320 C A rs61753453 EIF2S3B Nonsynonymous SNV D273E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.1 235405 chr5 139715520 139715520 G A rs757339236 HBEGF Nonsynonymous SNV A164V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 235406 chr12 10783884 10783884 T C rs6650202 STYK1 Nonsynonymous SNV R71G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.467 235407 chr12 10853951 10853951 G C rs78265782 YBX3 Nonsynonymous SNV A283G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 235408 chr12 10862631 10862631 G A rs145577602 YBX3 Nonsynonymous SNV A219V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 235409 chr2 113819815 113819815 C T rs372880215 IL36RN Nonsynonymous SNV T77I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.227 235410 chr12 10862632 10862632 C A rs148867879 YBX3 Nonsynonymous SNV A219S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.45 235411 chr5 140073855 140073855 A G rs763261995 HARS2 Nonsynonymous SNV Y105C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 235412 chr19 38384344 38384344 G A rs757520130 WDR87 Stop gain Q667X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 235413 chr19 38572622 38572622 C A SIPA1L3 Nonsynonymous SNV H139Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.562 235414 chr17 4796839 4796839 G C rs182818413 MINK1 Nonsynonymous SNV E800D 0 0 0.007 2 0 0 0.005 2 0 0 0 0 11.56 235415 chr17 4802097 4802097 G A rs145456588 CHRNE Synonymous SNV L472L 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.23 235416 chr17 4803426 4803426 - C rs758329067 C17orf107 Frameshift insertion T89Hfs*154 0 0 0.007 2 0 0 0.005 2 0 0 0 0 235417 chr17 4803765 4803765 G C rs184464124 C17orf107 Synonymous SNV S170S 0 0 0.007 2 0 0 0.005 2 0 0 0 0 5.77 235418 chr17 4841132 4841132 C T rs145172608 SLC25A11 Synonymous SNV T232T 0 0 0.007 2 0 0 0.005 2 0 0 0 0 12.98 235419 chr17 4846748 4846748 C T rs369830039 RNF167 Nonsynonymous SNV R167W 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 235420 chr19 40541450 40541450 T A rs200251305 ZNF780B Nonsynonymous SNV H439L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 235421 chr17 4875702 4875702 T C rs149983655 CAMTA2 Nonsynonymous SNV D880G 0 0 0.007 2 0 0 0.005 2 0 0 0 0 12.51 235422 chr5 140720669 140720669 T C rs775144187 PCDHGA2 Synonymous SNV L711L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 235423 chr11 247392 247392 C T PSMD13 Nonsynonymous SNV S173F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 235424 chr10 71640273 71640273 C T rs368265883 COL13A1 Synonymous SNV D129D 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 16.85 235425 chr19 44515558 44515558 G A rs141922155 ZNF230 Nonsynonymous SNV R456H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 235426 chr6 41558043 41558043 C T rs34992960 FOXP4 Synonymous SNV A464A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 235427 chr10 73983698 73983698 C T rs11553570 ANAPC16 Nonsynonymous SNV S9L 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 23.7 235428 chr19 45762283 45762283 G T rs200047371 MARK4 Nonsynonymous SNV G30C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 235429 chr11 3797146 3797146 G A NUP98 Nonsynonymous SNV T154I 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 235430 chr10 127540927 127540927 A G DHX32 Nonsynonymous SNV M429T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.57 235431 chr17 71205858 71205858 A C rs906444768 FAM104A Nonsynonymous SNV S91A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 235432 chr6 4937871 4937871 G A rs145710209 CDYL Nonsynonymous SNV V106I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 235433 chr5 159659158 159659158 G T FABP6 Nonsynonymous SNV V41L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.2 235434 chr5 16465351 16465351 T C rs763516769 ZNF622 Nonsynonymous SNV M142V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.592 235435 chr11 47362731 47362731 C T rs200352299 MYBPC3 Nonsynonymous SNV E619K 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 235436 chr17 7251496 7251496 C T rs148344170 ACAP1 Synonymous SNV R488R 0 0 0.007 0 0 0 0 2 0 0 0 0 19.28 235437 chr6 56394554 56394554 T C rs1024051641 DST Nonsynonymous SNV I3140V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.5 235438 chr6 64499106 64499106 C T rs140594243 EYS Nonsynonymous SNV D2475N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 235439 chr12 1940646 1940646 A G rs764481501 LRTM2 Nonsynonymous SNV N205D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 235440 chr12 2016626 2016626 C A rs763468551 CACNA2D4 Nonsynonymous SNV G254V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 235441 chr1 235634256 235634256 C T rs761979457 B3GALNT2 Nonsynonymous SNV V224M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 235442 chr19 50154597 50154597 C T rs370259405 SCAF1 Synonymous SNV D317D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.52 235443 chr17 74557777 74557777 C T rs137955606 SNORD1A 0 0 0.014 0 0 0 0 4 0 0 0 0 17.5 235444 chr19 50249932 50249932 - CTGCTTCTCCTCCGGCTC rs764015789 TSKS Q262_K263insEPEEKQ 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 235445 chr17 75478338 75478338 C T rs753009286 SEPTIN9 Synonymous SNV Y166Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 235446 chr17 7637838 7637838 G C rs200250816 DNAH2 Nonsynonymous SNV E264Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 235447 chr17 76425269 76425269 G A rs142758365 DNAH17 Nonsynonymous SNV T4113M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 235448 chr6 90400519 90400519 A G rs369806749 MDN1 Nonsynonymous SNV I3541T 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 9.501 235449 chr5 32053911 32053911 A G rs149253876 PDZD2 Nonsynonymous SNV I608V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.7 235450 chr5 36608540 36608540 T C rs143791614 SLC1A3 Synonymous SNV N5N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 5.816 235451 chr17 78081424 78081424 C T rs577915581 GAA Nonsynonymous SNV S254L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 235452 chr5 39202605 39202605 G A rs773877131 FYB1 Nonsynonymous SNV P163L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 235453 chr19 52376460 52376460 C T rs151106273 ZNF577 Synonymous SNV Q261Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.567 235454 chr17 78280264 78280264 C T rs74455936 RNF213 Nonsynonymous SNV T808M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.078 235455 chr12 49491853 49491853 G A rs751914613 LMBR1L Nonsynonymous SNV R368C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 235456 chr17 78319554 78319554 C T rs139873121 RNF213 Synonymous SNV A2473A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.854 235457 chr17 78328237 78328237 A G rs116007874 RNF213-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.515 235458 chr2 198436771 198436771 A C rs138820115 RFTN2 Nonsynonymous SNV F489L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.48 235459 chr17 78367235 78367235 C T rs61745927 RNF213 Synonymous SNV L5187L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.83 235460 chr12 50745791 50745791 - ACCTGCTGAGGGGTGAGAGAGATCCCCAGAGCCTGGGCCTGCTGAGGGGTGAGAGGGATACCCAGGGCCTGG FAM186A A1610_Q1611insLGIPLTPQQAQALGISLTPQQVQA 0.004 0.003 0 0 5 1 0 0 0 0 0 0 235461 chr5 44813243 44813243 A G rs759097657 MRPS30 Nonsynonymous SNV T297A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25 235462 chr12 5153928 5153928 G C rs12720443 KCNA5 Synonymous SNV L205L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.855 235463 chr12 5154463 5154463 G A rs76708779 KCNA5 Nonsynonymous SNV G384R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 22.2 235464 chr11 55904404 55904404 G A rs143365733 OR8J3 Nonsynonymous SNV T264I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.9 235465 chr19 54678077 54678077 C T rs78453964 MBOAT7 Synonymous SNV P287P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 235466 chr2 211082797 211082797 T - rs776002734 ACADL E88Gfs*74 0.001 0 0 2 1 0 0.005 0 0 0 0 0 235467 chr11 113560972 113560972 C T rs775703954 TMPRSS5 Nonsynonymous SNV G283E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 235468 chr18 12264432 12264432 A G rs780412930 CIDEA Nonsynonymous SNV K104E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 235469 chr11 117242066 117242066 G A CEP164 Nonsynonymous SNV E346K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.68 235470 chr12 55759622 55759622 T A rs760024759 OR6C75 Nonsynonymous SNV M243K 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 235471 chr11 117281577 117281577 C T rs146456836 CEP164 Nonsynonymous SNV P1372L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 235472 chr18 21508191 21508191 C T rs144549206 LAMA3 Nonsynonymous SNV S1096L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 235473 chr12 56214080 56214080 T A rs145457304 ORMDL2 Synonymous SNV A121A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.892 235474 chr19 56515446 56515446 C T rs201123213 NLRP5 Nonsynonymous SNV R143W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 235475 chr11 57155258 57155258 G A rs145790323 PRG2 Synonymous SNV R182R 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 9.875 235476 chr19 57157102 57157102 C T rs893761533 SMIM17 Nonsynonymous SNV P23S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 235477 chr19 57174993 57174993 C G rs76494233 ZNF835 Nonsynonymous SNV G525A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 235478 chr12 66707928 66707928 A G rs140308412 HELB Nonsynonymous SNV K615E 0.002 0 0 0 2 0 0 0 0 0 0 0 31 235479 chr6 10556705 10556707 ATT - rs781422504 GCNT2 I18del 0 0 0 1 0 0 0.003 0 0 0 0 0 235480 chr10 89504848 89504848 C T PAPSS2 Synonymous SNV T522T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 235481 chr10 90512404 90512404 A G rs376668447 LIPK Nonsynonymous SNV Y364C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 235482 chr6 10989941 10989941 C T rs148461943 ELOVL2 Nonsynonymous SNV V254I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.063 235483 chr7 140395544 140395544 C T NDUFB2-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.722 235484 chr11 64032867 64032867 G A rs147676019 PLCB3 Synonymous SNV E909E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.19 235485 chr12 9230343 9230343 T C rs369348927 A2M Nonsynonymous SNV N927S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.65 235486 chr12 94975816 94975816 G A rs138922300 TMCC3 Nonsynonymous SNV L162F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.99 235487 chr12 95604081 95604081 G A rs138823345 FGD6 Nonsynonymous SNV R327C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.8 235488 chr20 18143066 18143066 A G KAT14 Nonsynonymous SNV E383G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 235489 chr11 65401704 65401704 G A rs754400451 PCNX3 Synonymous SNV S1526S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.248 235490 chr13 103391555 103391555 C T rs751132070 CCDC168 Nonsynonymous SNV R3831Q 0.002 0 0 0 2 0 0 0 0 0 0 0 2.271 235491 chr11 66000487 66000487 C T rs757234054 PACS1 Synonymous SNV T596T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.01 235492 chr11 66053171 66053171 C A rs779694835 YIF1A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.2 235493 chr19 12061011 12061011 G A rs760076476 ZNF700 Synonymous SNV R727R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.669 235494 chr19 14752384 14752384 G A rs761392728 ADGRE3 Synonymous SNV S239S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 235495 chr7 1586785 1586785 C T rs771892842 TMEM184A Nonsynonymous SNV G349S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 235496 chr20 37275611 37275611 G C ARHGAP40 Synonymous SNV V573V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.496 235497 chr19 15272378 15272378 C T rs199620476 NOTCH3 Nonsynonymous SNV V2021M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 235498 chr6 152683347 152683347 A G rs147631683 SYNE1 Synonymous SNV H3426H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.111 235499 chr20 39798903 39798903 C T rs34183705 PLCG1 Synonymous SNV D934D 0.003 0 0 0 3 0 0 0 0 0 0 0 16.76 235500 chr20 40049594 40049594 G A rs375183782 CHD6 Nonsynonymous SNV T1894M 0.002 0 0 0 2 0 0 0 0 0 0 0 9.859 235501 chr7 21956482 21956482 C T rs749525504 CDCA7L Nonsynonymous SNV A19T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 235502 chr20 44879785 44879785 C G rs767644336 CDH22 Nonsynonymous SNV R50P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 235503 chr19 17212561 17212561 C T rs754792692 MYO9B Nonsynonymous SNV R12W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.82 235504 chr13 32813924 32813924 C T rs779340624 FRY Nonsynonymous SNV T2198M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 235505 chr13 33635247 33635247 C T rs368108025 KL Synonymous SNV L677L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.993 235506 chr6 16327916 16327927 TGCTGCTGCTGC - ATXN1 Q205_Q208del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 235507 chr11 118899943 118899943 T C rs782754055 SLC37A4 Nonsynonymous SNV K46R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 235508 chr7 50175699 50175699 T C rs766810988 SPATA48 Synonymous SNV V291V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.651 235509 chr13 39430321 39430321 C T rs139998201 FREM2 Synonymous SNV D2328D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.66 235510 chr6 168468074 168468074 T C rs150186687 FRMD1 Synonymous SNV S51S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.228 235511 chr6 168468127 168468127 C T rs147885454 FRMD1 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 235512 chr11 82893488 82893488 A G rs144555497 PCF11 Synonymous SNV E1588E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.173 235513 chr20 60887567 60887567 G A rs182957711 LAMA5 Synonymous SNV T3083T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.844 235514 chr2 74777387 74777388 AC - LOXL3 C134Yfs*4 0.001 0 0 1 1 0 0.003 0 0 0 0 0 235515 chr13 96675975 96675975 C T rs938385242 UGGT2 Nonsynonymous SNV A94T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.2 235516 chr20 62203493 62203493 G C HELZ2 Synonymous SNV P82P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 235517 chr7 50673014 50673014 T C rs770996715 GRB10 Synonymous SNV A408A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.063 235518 chr19 34302194 34302194 C T KCTD15 Stop gain Q144X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 235519 chr14 103342855 103342855 C T rs763088249 TRAF3 Nonsynonymous SNV A188V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.46 235520 chr19 34843577 34843577 C T rs151176246 KIAA0355 Nonsynonymous SNV P977L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 235521 chr3 100593743 100593743 A G rs775441615 ABI3BP Synonymous SNV T291T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.666 235522 chr20 62851197 62851197 C G rs746955478 MYT1 Synonymous SNV S701S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 235523 chr12 101693483 101693483 C A rs200955631 UTP20 Nonsynonymous SNV T485N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.766 235524 chr12 10171010 10171010 G A rs973906758 CLEC12B Nonsynonymous SNV R254H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 235525 chr14 104441786 104441786 G C rs147103471 TDRD9 Nonsynonymous SNV V303L 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 21.4 235526 chr3 108175728 108175728 T C rs201634509 MYH15 Nonsynonymous SNV I695V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 235527 chr19 36278755 36278755 C T rs554040009 ARHGAP33 Synonymous SNV P932P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.627 235528 chr6 34008431 34008431 G A rs372608829 GRM4 Synonymous SNV H305H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 235529 chr7 72857109 72857109 T C BAZ1B Nonsynonymous SNV K1347R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.77 235530 chr21 34926666 34926666 C T SON Nonsynonymous SNV P1710L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.064 235531 chr6 35705044 35705044 C T rs139422699 ARMC12 Synonymous SNV I53I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.34 235532 chr3 114018536 114018536 G A rs147577671 TIGIT Nonsynonymous SNV A162T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.141 235533 chr19 38377308 38377308 T C rs779171523 WDR87 Nonsynonymous SNV K2335E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.418 235534 chr19 38797617 38797617 G A rs568224834 YIF1B Nonsynonymous SNV P265L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.548 235535 chr19 38800114 38800114 C T rs149031198 YIF1B Synonymous SNV P61P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 235536 chr19 40721090 40721090 C T MAP3K10 Nonsynonymous SNV P919L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 235537 chr3 123452836 123452836 G A rs35912339 MYLK Nonsynonymous SNV P160L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 11.12 235538 chr19 42847638 42847638 C T rs555480088 MEGF8 Nonsynonymous SNV A508V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 235539 chr19 43998913 43998913 C T PHLDB3 Nonsynonymous SNV A364T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.842 235540 chr6 46659849 46659849 A G rs138944304 TDRD6 Synonymous SNV E1328E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.016 235541 chr19 44051043 44051043 G A rs199761694 XRCC1 Nonsynonymous SNV P429L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.96 235542 chr6 46851374 46851374 T C rs767085691 ADGRF5 Synonymous SNV L178L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.642 235543 chr19 44116708 44116708 A G rs200590643 SRRM5 Nonsynonymous SNV I145M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 235544 chr12 123343686 123343686 G A rs371380314 HIP1R Nonsynonymous SNV R746Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.506 235545 chr7 116139980 116139980 - TCA rs752153131 CAV2 L36_K37insI 0 0.003 0 1 0 1 0.003 0 0 0 0 0 235546 chr8 10411468 10411468 A T rs149281069 PRSS55 Nonsynonymous SNV T253S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 235547 chr19 44981575 44981575 G C ZNF180 Nonsynonymous SNV H350D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 235548 chr7 123508985 123508985 T C rs377039523 HYAL4 Nonsynonymous SNV Y220H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 235549 chr3 133358832 133358832 T C rs770264504 TOPBP1 Nonsynonymous SNV H730R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 235550 chr3 133496032 133496032 G A rs121918677 TF Nonsynonymous SNV G544E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 28.9 235551 chr6 71235887 71235887 G A rs200049324 FAM135A Nonsynonymous SNV V805I 0 0 0 1 0 0 0.003 0 0 0 0 0 24 235552 chr22 19471492 19471492 G A CDC45 Synonymous SNV G104G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.6 235553 chr19 46997028 46997028 T G PNMA8B Synonymous SNV R565R 0 0 0.014 0 0 0 0 4 0 0 0 0 7.29 235554 chr19 46997045 46997045 T G PNMA8B Nonsynonymous SNV T560P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.913 235555 chr7 100033025 100033025 G A PPP1R35 Synonymous SNV D240D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.95 235556 chr12 25311489 25311489 G A rs10842496 CASC1 Nonsynonymous SNV R33C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 235557 chr22 29661549 29661549 G A rs143615836 RHBDD3 Synonymous SNV L23L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.231 235558 chr19 50369666 50369666 G A rs3739173 PNKP Nonsynonymous SNV A63V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 235559 chr3 171969142 171969142 G A FNDC3B Nonsynonymous SNV D201N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 235560 chr7 149521731 149521731 C T rs369545096 SSPO 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.27 235561 chr3 172607454 172607454 T C rs774019703 SPATA16 Nonsynonymous SNV Q539R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 235562 chr12 31604857 31604857 A C rs191727932 DENND5B Nonsynonymous SNV V372G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.104 235563 chr11 5424065 5424065 C T OR51J1 Nonsynonymous SNV T80I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.3 235564 chr22 32014388 32014388 G A rs776906445 SFI1 Nonsynonymous SNV R1183Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 235565 chr19 51917008 51917008 C T rs61741687 SIGLEC10 Synonymous SNV T350T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.05 235566 chr8 145101643 145101643 A G SPATC1 Nonsynonymous SNV H521R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 235567 chr7 155596077 155596077 C T SHH Synonymous SNV R302R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.271 235568 chr19 52468868 52468868 G A rs951464830 ZNF350 Nonsynonymous SNV H280Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 235569 chr19 52887297 52887297 C T rs939622310 ZNF880 Nonsynonymous SNV S155F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 235570 chr7 100552314 100552314 A G MUC3A Synonymous SNV P965P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.494 235571 chr8 21767083 21767083 G A rs748947055 DOK2 Synonymous SNV A172A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.72 235572 chr22 44287088 44287088 C A rs746234508 PNPLA5 Stop gain E94X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 235573 chr19 54611471 54611471 C T rs202010949 TFPT Synonymous SNV P159P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.87 235574 chr19 54672348 54672350 AAG - rs746618661 TMC4 L173del 0 0 0.003 0 0 0 0 1 0 0 0 0 235575 chr8 12957545 12957545 C T rs376046492 DLC1 Synonymous SNV A256A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.79 235576 chr15 25653765 25653765 A G UBE3A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.7 235577 chr11 5717482 5717482 T C rs200816458 TRIM22 Nonsynonymous SNV V7A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.037 235578 chr7 128633936 128633936 C T TNPO3 Synonymous SNV G397G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.5 235579 chr8 39847306 39847306 C T rs199869245 IDO2 Stop gain R219X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 235580 chr12 56662967 56662967 G T COQ10A Nonsynonymous SNV V104F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 235581 chr3 42251584 42251586 GGA - TRAK1 E624del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 235582 chrX 18668528 18668528 A C CDKL5 0.002 0 0 0 2 0 0 0 0 0 0 0 0.291 235583 chr11 59554518 59554518 A T rs1001410379 STX3 Nonsynonymous SNV E41D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.46 235584 chr11 59560588 59560588 C T rs199519154 STX3 Synonymous SNV T161T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 16.97 235585 chr12 58113980 58113980 C G rs200597761 OS9 Nonsynonymous SNV P552A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 235586 chr19 58058447 58058447 G A rs200419118 ZNF550 Nonsynonymous SNV H389Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 235587 chr15 44914523 44914525 TTT - SPG11 K779del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 235588 chrX 48650369 48650369 C T rs147681544 GATA1 Synonymous SNV R113R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.94 235589 chrX 64955287 64955287 G A rs770882351 MSN Nonsynonymous SNV M318I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.39 235590 chr3 47163746 47163746 A G SETD2 Nonsynonymous SNV Y750H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.7 235591 chr8 55541177 55541177 T G rs200860068 RP1 Nonsynonymous SNV L1579V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.96 235592 chr8 55541984 55541984 G A rs779241117 RP1 Nonsynonymous SNV A1848T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.501 235593 chr8 59059420 59059420 C A FAM110B Nonsynonymous SNV P211T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 235594 chr3 48623628 48623628 C T rs189206728 COL7A1 Nonsynonymous SNV R1201H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24 235595 chr19 7542106 7542106 G A rs376573452 PEX11G Synonymous SNV A175A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.898 235596 chr3 46492067 46492067 G A rs761821470 LTF Nonsynonymous SNV A223V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 235597 chr11 640157 640157 C A rs752533625 DRD4 Nonsynonymous SNV P303Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.228 235598 chrX 106172046 106172046 T G rs200850588 CLDN2 Nonsynonymous SNV D196E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.003 235599 chr3 48455455 48455455 G A PLXNB1 Nonsynonymous SNV S1412F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 235600 chr15 59960328 59960328 T G BNIP2 Nonsynonymous SNV E257D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.59 235601 chr3 49043565 49043565 C G P4HTM Synonymous SNV V472V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.12 235602 chr15 62276049 62276049 C A VPS13C Nonsynonymous SNV Q585H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.05 235603 chr15 63421686 63421686 A T rs146546670 LACTB, LACTB Nonsynonymous SNV S319C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 235604 chrX 128881671 128881671 A C XPNPEP2 Synonymous SNV G193G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.591 235605 chr19 9046305 9046305 T G rs199805467 MUC16 Nonsynonymous SNV T11776P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.68 235606 chr3 52395778 52395778 A G DNAH1 Nonsynonymous SNV Q1659R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.95 235607 chr15 65890703 65890703 A T INTS14 Nonsynonymous SNV V156D 0.003 0 0 0 4 0 0 0 0 0 0 0 21.2 235608 chr12 102190521 102190521 C T rs117566084 GNPTAB Nonsynonymous SNV R46Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign/Likely benign 23.9 235609 chr19 9071401 9071401 G A rs182936649 MUC16 Nonsynonymous SNV P5349S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.043 235610 chr15 68065044 68065044 G A MAP2K5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 235611 chr11 65766152 65766152 T C EIF1AD Nonsynonymous SNV D139G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 235612 chr15 69652439 69652439 C G rs115675417 PAQR5 Nonsynonymous SNV P7R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 235613 chr7 21678659 21678659 C T rs746563330 DNAH11 Synonymous SNV L1640L 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.14 235614 chr9 117113154 117113154 G A rs201422989 AKNA Nonsynonymous SNV T950I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 235615 chrX 149919308 149919308 T C MTMR1 Nonsynonymous SNV F456S 0.003 0 0 0 3 0 0 0 0 0 0 0 11.02 235616 chr19 9086327 9086327 A T MUC16 Nonsynonymous SNV W1830R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 235617 chr9 117359937 117359939 AAC - ATP6V1G1 N91del 0.001 0 0 0 1 0 0 0 0 0 0 0 235618 chr9 117359942 117359957 GGATGAAGTCTTGGAC - ATP6V1G1 D93Tfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 235619 chr7 2260551 2260551 G A rs114013751 MAD1L1 Nonsynonymous SNV R55W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.115 235620 chr11 6704515 6704515 C T MRPL17 Nonsynonymous SNV V5I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.508 235621 chr9 119094683 119094683 G A rs79136957 PAPPA Synonymous SNV G1111G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 235622 chr7 2578947 2578947 C A rs34656552 BRAT1 Nonsynonymous SNV V371L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23 235623 chr7 2581776 2581776 C T rs76646873 BRAT1 Synonymous SNV T156T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.905 235624 chr3 69087848 69087848 G A TMF1 Nonsynonymous SNV A676V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.8 235625 chr7 2625966 2625966 C T rs78104931 IQCE Nonsynonymous SNV R252C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 33 235626 chr3 69168719 69168719 T C LMOD3 Nonsynonymous SNV I263V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 21.1 235627 chr3 71743046 71743047 AA - EIF4E3 F151Hfs*8 0 0 0 2 0 0 0.005 0 0 0 0 0 235628 chrX 153594713 153594713 G A rs200048692 FLNA Synonymous SNV I397I 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.07 235629 chrX 153717037 153717037 G A rs201722705 SLC10A3 Synonymous SNV D81D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.513 235630 chr13 111110489 111110489 C T rs749924628 COL4A2-AS2 Nonsynonymous SNV G73R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.428 235631 chr8 135614250 135614250 G A ZFAT Nonsynonymous SNV A509V 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 1.081 235632 chr7 31378291 31378291 G A rs140721811 NEUROD6 Nonsynonymous SNV H198Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.25 235633 chr3 98240239 98240239 T C rs765530436 CLDND1 Synonymous SNV V10V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.073 235634 chr13 113487286 113487286 T G rs143634322 ATP11A Nonsynonymous SNV V503G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 11.18 235635 chr1 110741057 110741057 G A rs201989744 SLC6A17 Synonymous SNV S725S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 13.86 235636 chr11 71810262 71810262 G A LAMTOR1 Nonsynonymous SNV P28L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 235637 chr1 114255919 114255919 A T rs529721504 PHTF1 Nonsynonymous SNV D255E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 235638 chr1 1986954 1986954 G A rs35271800 PRKCZ Nonsynonymous SNV R49H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 13.94 235639 chr1 2434257 2434257 G C PLCH2 Nonsynonymous SNV C1096S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.72 235640 chr15 85164942 85164942 G A rs200037418 ZSCAN2 Nonsynonymous SNV E506K 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.8 235641 chr7 42949240 42949240 T C C7orf25 Synonymous SNV E478E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 235642 chr4 102783816 102783816 C T BANK1 Nonsynonymous SNV A120V 0 0 0 2 0 0 0.005 0 0 0 0 0 32 235643 chr12 121861194 121861194 G A rs782650665 RNF34 Nonsynonymous SNV E120K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 235644 chr15 86814928 86814928 G A rs757373166 AGBL1 Nonsynonymous SNV C689Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 235645 chr13 25744072 25744072 C T rs137997477 AMER2 Synonymous SNV P562P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.17 235646 chr1 120300054 120300054 G A rs1992376 HMGCS2 Synonymous SNV S244S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.312 235647 chr3 119232506 119232506 T G rs752068330 TIMMDC1 Nonsynonymous SNV F179C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 235648 chr7 48313657 48313657 A T ABCA13 Nonsynonymous SNV D1465V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.57 235649 chr1 1322693 1322693 C T rs775543411 CCNL2 Nonsynonymous SNV R272Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 235650 chr8 145583705 145583705 C G rs550938660 SLC52A2 Nonsynonymous SNV L185V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 235651 chr1 151265424 151265424 C T rs138180526 PI4KB Synonymous SNV L453L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 235652 chr12 100897268 100897268 G A rs766734563 NR1H4 Nonsynonymous SNV A35T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 235653 chr7 73246155 73246155 C T rs72466476 CLDN4 Synonymous SNV Y208Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.46 235654 chr9 6007455 6007455 C T rs375936731 KIAA2026 Synonymous SNV A111A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 16.38 235655 chr1 154402966 154402966 C T rs143961356 IL6R Synonymous SNV P114P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.38 235656 chr12 15777209 15777209 G A rs150904526 EPS8 Nonsynonymous SNV T726I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.39 235657 chr16 1391986 1391986 G C BAIAP3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 235658 chr16 14346354 14346354 C A rs145792320 MRTFB Nonsynonymous SNV P889T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.64 235659 chr1 155159741 155159741 T C MUC1 Nonsynonymous SNV Y113C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 235660 chr9 15474050 15474050 G A PSIP1 Nonsynonymous SNV T272I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.3 235661 chr7 83643549 83643549 G A rs34652029 SEMA3A Synonymous SNV H262H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.269 235662 chr9 20414344 20414346 CTG - rs754957290 MLLT3 S187del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 235663 chr1 22163370 22163370 C T rs142939330 HSPG2 Nonsynonymous SNV R3428Q 0.003 0 0 2 3 0 0.005 0 0 0 0 1 Conflicting interpretations of pathogenicity 9.708 235664 chr1 23111268 23111268 C T rs61732489 EPHB2 Synonymous SNV S170S 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 13.52 235665 chr12 335578 335578 G C rs76709380 SLC6A13 Synonymous SNV P254P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.116 235666 chr16 19710946 19710946 C T rs748928470 VPS35L Synonymous SNV H830H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.84 235667 chr1 25890207 25890207 C T rs41291054 LDLRAP1 Synonymous SNV S224S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.57 235668 chr7 98985799 98985799 C T ARPC1B Nonsynonymous SNV R103C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 235669 chr14 105394131 105394131 C G rs951273330 PLD4 Nonsynonymous SNV S78C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 235670 chr16 21658472 21658472 T G rs376880564 IGSF6 Nonsynonymous SNV T137P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 235671 chr8 103300435 103300435 G A rs200315433 UBR5 Synonymous SNV H1591H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 235672 chr1 16069638 16069638 G A rs542386715 TMEM82 Synonymous SNV V95V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 235673 chr16 24105581 24105581 G A PRKCB Nonsynonymous SNV G262R 0.002 0 0 0 2 0 0 0 0 0 0 0 32 235674 chr9 434872 434872 C T rs376049301 DOCK8 Nonsynonymous SNV T1559M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 235675 chr1 37947368 37947368 A G rs139293932 ZC3H12A Synonymous SNV Q250Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.189 235676 chr9 5919943 5919943 G C KIAA2026 Nonsynonymous SNV S2018C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 235677 chr1 167844413 167844413 A G rs142478979 ADCY10 Nonsynonymous SNV M320T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.663 235678 chr9 712096 712096 A G KANK1 Nonsynonymous SNV M286V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 235679 chr14 21560701 21560706 GGCTCC - rs370417468 ZNF219 P252_E253del 0 0.003 0 0 0 1 0 0 0 0 0 0 235680 chr1 169513640 169513640 G A rs766714365 F5 Synonymous SNV T623T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 235681 chr3 193272449 193272450 GT - ATP13A4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 235682 chr14 23634589 23634589 A G SLC7A8 Nonsynonymous SNV I138T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 235683 chr4 42145488 42145488 T C rs1006906035 BEND4 Synonymous SNV Q337Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 235684 chr1 176640235 176640235 C T rs34429842 PAPPA2 Synonymous SNV D707D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.88 235685 chr1 177249695 177249695 C T rs199990562 BRINP2 Synonymous SNV G461G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.302 235686 chr14 24807190 24807190 A C RIPK3 Nonsynonymous SNV S241A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 235687 chr1 46998686 46998686 G A rs546020419 TMEM275 Nonsynonymous SNV R172W 0 0 0 1 0 0 0.003 0 0 0 0 0 11.31 235688 chr9 95773532 95773532 C T FGD3 Nonsynonymous SNV S338F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 235689 chr4 515844 515844 C T rs13136656 PIGG Nonsynonymous SNV R561C 0 0 0 2 0 0 0.005 0 0 0 0 0 3.766 235690 chr16 4310235 4310235 A T TFAP4 Synonymous SNV P226P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.791 235691 chr14 35565967 35565967 T G rs765718696 PPP2R3C Nonsynonymous SNV K127T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 235692 chrX 105183948 105183948 G A rs56141600 NRK Synonymous SNV R1294R 0.001 0.005 0.007 0 1 2 0 2 0 1 1 0 11.27 235693 chr4 1801174 1801174 C T rs371715444 FGFR3 Synonymous SNV H101H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.46 235694 chr12 58158245 58158245 A C rs537825066 CYP27B1 Nonsynonymous SNV L351R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.2 235695 chrX 118221506 118221506 T C KIAA1210 Synonymous SNV L1229L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 0.034 235696 chr1 18618416 18618416 C T rs781002165 IGSF21 Synonymous SNV S80S 0 0 0.003 0 0 0 0 1 0 0 0 0 15 235697 chr12 27573415 27573415 G T rs200156111 ARNTL2 Nonsynonymous SNV G584W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 235698 chr1 197169445 197169445 T A rs199720512 ZBTB41 Nonsynonymous SNV E53D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 235699 chr12 7050714 7050714 A G ATN1 Nonsynonymous SNV Y1179C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 235700 chrX 151303808 151303808 C T rs139926957 MAGEA10 Synonymous SNV S95S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.985 235701 chr14 61747774 61747774 G A TMEM30B Nonsynonymous SNV S31L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 235702 chr1 201969253 201969253 G A ELF3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.777 235703 chr1 84679969 84679969 C T rs143624941 PRKACB Nonsynonymous SNV T287M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 235704 chr8 145101719 145101719 C T rs149191984 SPATC1 Synonymous SNV G546G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.534 235705 chr1 202936023 202936023 G A rs143624135 CYB5R1 Nonsynonymous SNV P7S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.24 235706 chr1 203800886 203800886 C A rs141612045 ZC3H11A Synonymous SNV L266L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 235707 chr8 145741473 145741473 G A rs768850000 RECQL4 Nonsynonymous SNV R344W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 19.37 235708 chr4 88036146 88036146 C T rs147629221 AFF1 Nonsynonymous SNV H352Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.241 235709 chr1 205353468 205353468 G A rs2274703 LEMD1 Nonsynonymous SNV R58C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 235710 chr14 73727878 73727878 C T rs61745818 PAPLN Synonymous SNV H707H 0 0.005 0 0 0 2 0 0 0 0 0 0 7.356 235711 chr14 75515397 75515397 A G rs1004768761 MLH3 Nonsynonymous SNV M321T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.7 235712 chr1 93583965 93583965 A G rs200173529 MTF2 Synonymous SNV Q130Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.878 235713 chr16 816918 816918 C T rs373919537 MSLN Synonymous SNV D477D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.192 235714 chr8 19297418 19297418 C A rs745690948 CSGALNACT1 Synonymous SNV G292G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.32 235715 chr1 212218051 212218051 T C DTL Synonymous SNV V34V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.656 235716 chr1 2161033 2161033 C T rs761525189 SKI Synonymous SNV F276F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 235717 chr8 22442660 22442660 C T rs150252291 PDLIM2 Nonsynonymous SNV A149V 0 0 0 2 0 0 0.005 0 0 0 0 0 3.027 235718 chr8 23160832 23160832 C T rs776067973 LOXL2 Synonymous SNV K653K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.02 235719 chr4 71114793 71114793 C A rs150281469 CSN3 Nonsynonymous SNV P56T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.79 235720 chr14 96848635 96848635 A G rs139307095 GSKIP Synonymous SNV E17E 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.28 235721 chr14 99983516 99983516 G A rs747601740 CCDC85C Nonsynonymous SNV P327L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 235722 chr14 99988470 99988470 G A rs746236862 CCDC85C Synonymous SNV N325N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 235723 chr10 104230819 104230819 C T rs573568143 MFSD13A Nonsynonymous SNV R217W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.8 235724 chr1 228403487 228403487 C T rs112046759 OBSCN Synonymous SNV F684F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.05 235725 chr1 228465000 228465000 C T rs112265836 OBSCN Nonsynonymous SNV S2247F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.4 235726 chr1 228470764 228470764 C T rs113447751 OBSCN Nonsynonymous SNV A2839V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.325 235727 chr1 228470780 228470780 G A rs112403932 OBSCN Synonymous SNV V2844V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.553 235728 chr1 228476522 228476522 G A rs111402242 OBSCN Synonymous SNV V3424V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.533 235729 chr1 228492945 228492945 C T rs112897466 OBSCN Synonymous SNV T4796T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 235730 chr1 228496855 228496855 G A rs111731636 OBSCN Synonymous SNV Q4265Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.236 235731 chr1 150795792 150795792 A G rs587605136 ARNT Synonymous SNV S409S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.207 235732 chr1 228559729 228559729 C A rs111553305 OBSCN Nonsynonymous SNV P7084T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.52 235733 chr1 228595950 228595950 C T rs113940247 TRIM17 Synonymous SNV K462K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 235734 chr10 112581692 112581692 G C RBM20 Synonymous SNV P1105P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.366 235735 chr1 231472535 231472537 TTC - rs778746897 EXOC8 E319del 0 0 0.003 0 0 0 0 1 0 0 0 0 235736 chr1 23191545 23191545 C T rs375578940 EPHB2 Synonymous SNV Y381Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.05 235737 chr1 154319204 154319204 G C rs187911863 ATP8B2 Nonsynonymous SNV D1064H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.5 235738 chr1 155449825 155449825 C G ASH1L Nonsynonymous SNV D946H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.7 235739 chr1 156047082 156047082 C T MEX3A Synonymous SNV E282E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.75 235740 chr1 241295638 241295638 T C MIR3123 0 0 0.003 0 0 0 0 1 0 0 0 0 1.742 235741 chr1 2447004 2447004 G A rs773341503 PANK4 Synonymous SNV D457D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.258 235742 chr1 247275497 247275497 G C rs772166347 C1orf229 Synonymous SNV G10G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.149 235743 chr1 158819011 158819011 C T rs147701010 MNDA Nonsynonymous SNV P403L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 235744 chr13 77699499 77699499 G A rs147976490 MYCBP2 Synonymous SNV G2663G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11.33 235745 chr12 94976071 94976071 C T rs202112740 TMCC3 Nonsynonymous SNV A77T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 235746 chr1 248154402 248154402 C - rs771320027 OR2L1P 0 0 0.003 0 0 0 0 1 0 0 0 0 235747 chr1 165398110 165398110 G A RXRG Nonsynonymous SNV T48I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 235748 chr17 2264932 2264932 T C rs753742746 SGSM2 Synonymous SNV G45G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.043 235749 chr17 27910510 27910510 C T rs141157150 GIT1 Synonymous SNV T59T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 235750 chr1 27690792 27690792 C A rs41291098 MAP3K6 Nonsynonymous SNV D192Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 235751 chr1 27875325 27875325 T C AHDC1 Nonsynonymous SNV Q1101R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.379 235752 chr1 28282259 28282259 G A rs144208397 SMPDL3B Nonsynonymous SNV R252Q 0 0 0.007 0 0 0 0 2 0 0 0 0 14.87 235753 chr9 116184859 116184859 G A rs781566022 C9orf43 Synonymous SNV S159S 0.002 0 0 4 2 0 0.01 0 0 0 0 0 9.644 235754 chr1 35370948 35370948 G A rs377135837 DLGAP3 Nonsynonymous SNV R13C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 235755 chr1 36019970 36019970 G A rs550851202 KIAA0319L Synonymous SNV S41S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 235756 chr1 182442910 182442910 G A rs201581081 RGSL1 Nonsynonymous SNV V222I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 235757 chr1 182827345 182827345 C T DHX9 Synonymous SNV S260S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.85 235758 chr13 28885810 28885810 G A rs55673217 FLT1 Synonymous SNV Y1184Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 7.886 235759 chr1 183556041 183556041 G T NCF2 Stop gain Y82X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 235760 chr15 72193547 72193547 T C rs143746439 MYO9A Synonymous SNV A1045A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.676 235761 chr1 40097208 40097208 G A rs754936352 HEYL Nonsynonymous SNV S64F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 235762 chr14 23072371 23072371 C T rs148360958 ABHD4 Synonymous SNV P63P 0.003 0 0 0 3 0 0 0 0 0 0 0 15.76 235763 chr15 75113500 75113500 C T rs769712922 LMAN1L Nonsynonymous SNV A331V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 235764 chr10 76788510 76788510 G C rs201959220 KAT6B Nonsynonymous SNV E529Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.04 235765 chr15 75651094 75651094 G A rs146675988 MAN2C1 Nonsynonymous SNV P634S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.9 235766 chr5 32230027 32230027 G A rs140836761 MTMR12 Nonsynonymous SNV R591C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 235767 chr1 200583529 200583529 T C rs144792145 KIF14 Nonsynonymous SNV M458V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 235768 chr5 34840841 34840844 ATAT - rs773689853 TTC23L H31Rfs*38 0 0 0.003 7 0 0 0.018 1 0 0 0 0 235769 chr1 44463334 44463336 GGG - SLC6A9 P530del 0 0 0.003 0 0 0 0 1 0 0 0 0 235770 chr13 46549755 46549755 G A rs780201744 ZC3H13 Nonsynonymous SNV R711C 0 0.003 0 0 0 1 0 0 0 0 0 0 24 235771 chr9 131077876 131077876 G A rs150975370 TRUB2 Synonymous SNV L72L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.22 235772 chr1 48231631 48231631 G A rs757389354 TRABD2B Synonymous SNV P499P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.429 235773 chr13 52639654 52639654 G A rs760410706 NEK5 Synonymous SNV A647A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.707 235774 chr5 14610321 14610321 C T rs895204926 OTULINL Synonymous SNV S323S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.74 235775 chr10 65225168 65225168 G A JMJD1C-AS1 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.881 235776 chr1 204949561 204949561 C T rs200482080 NFASC Nonsynonymous SNV T758M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 235777 chr1 205028267 205028267 G A rs145237574 CNTN2 Synonymous SNV G181G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 235778 chr5 54320564 54320564 C T rs34170848 GZMK Synonymous SNV G47G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.34 235779 chr10 97733890 97733890 A C rs190166673 CC2D2B Nonsynonymous SNV Q640H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.1 235780 chr10 97741780 97741780 C T rs146883214 CC2D2B Synonymous SNV L664L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.585 235781 chr5 55212501 55212502 CT - IL31RA S598Cfs*16 0 0 0 1 0 0 0.003 0 0 0 0 0 235782 chr5 41058267 41058267 G A rs560216450 MROH2B Synonymous SNV S218S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.91 235783 chr17 41179272 41179272 T A RND2 Nonsynonymous SNV I88N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 235784 chr5 43299048 43299048 A G HMGCS1 Nonsynonymous SNV L7S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.32 235785 chr10 102289176 102289176 C A rs777566917 NDUFB8 Nonsynonymous SNV R58L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.2 235786 chr17 42266401 42266401 C - rs764393441 TMUB2 S17Afs*20 0.002 0.003 0 0 2 1 0 0 0 0 0 0 235787 chr17 42849796 42849796 G T rs199564907 ADAM11 Nonsynonymous SNV G15V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.671 235788 chr17 43323301 43323301 C T rs200394335 FMNL1 Synonymous SNV G1017G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.98 235789 chr1 215777638 215777638 G T KCTD3 Nonsynonymous SNV V435L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 235790 chr5 70945927 70945927 C T MCCC2 Nonsynonymous SNV R431C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 235791 chr5 56226525 56226525 G A rs201366452 MIER3 Synonymous SNV I270I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.65 235792 chr17 4644187 4644187 G A rs780014016 ZMYND15 Nonsynonymous SNV G115E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.858 235793 chr1 8419855 8419860 CGCTCC - rs768294126 RERE R646_E647del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 235794 chr1 84373276 84373276 G A rs34313577 TTLL7 Nonsynonymous SNV R592C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 235795 chr1 226179063 226179063 A G SDE2 Synonymous SNV G174G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.5 235796 chr14 73718474 73718474 G T rs141960540 PAPLN Nonsynonymous SNV G258V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 235797 chr14 21490339 21490339 T C rs144106083 NDRG2 Nonsynonymous SNV K72E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 235798 chr1 89418744 89418744 A C rs200550194 KYAT3 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 235799 chr17 48704077 48704077 G A rs772947233 CACNA1G Nonsynonymous SNV G2240S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.39 235800 chr1 228495857 228495857 C T rs778801081 OBSCN Nonsynonymous SNV T4171M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.293 235801 chr14 76957977 76957977 G A rs899007798 ESRRB Synonymous SNV L325L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.045 235802 chr1 228548292 228548292 T C rs760239735 OBSCN Nonsynonymous SNV W6567R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.307 235803 chr5 92920966 92920966 G C rs199844882 NR2F1 Nonsynonymous SNV Q79H 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Likely benign 24.2 235804 chr10 124096188 124096188 - A rs560247372 BTBD16 Frameshift insertion S484Kfs*48 0 0.003 0 1 0 1 0.003 0 0 0 0 0 235805 chr1 91841121 91841121 A C HFM1 Nonsynonymous SNV V520G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 235806 chr14 80130246 80130246 C T rs139723044 NRXN3 Synonymous SNV A185A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.01 235807 chr1 233297017 233297017 T G rs201916550 PCNX2 Synonymous SNV R1122R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.22 235808 chr9 22447627 22447627 C T rs774066479 DMRTA1 Nonsynonymous SNV P188L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.636 235809 chr1 234744409 234744409 C T IRF2BP2 Nonsynonymous SNV G278R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 235810 chr14 30066842 30066842 A C PRKD1 Synonymous SNV S763S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.368 235811 chr14 90455401 90455401 G A TDP1 Synonymous SNV K428K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.466 235812 chr1 235972270 235972270 G A rs376259384 LYST Synonymous SNV N616N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.349 235813 chr1 978992 978992 G A rs761396188 AGRN Nonsynonymous SNV V560M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 235814 chr1 236689413 236689413 C T rs757335009 LGALS8 Nonsynonymous SNV P15S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 235815 chr1 9811674 9811674 T C rs756176905 CLSTN1 Nonsynonymous SNV Y159C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 235816 chr1 236746117 236746117 G C rs776445716 HEATR1 Nonsynonymous SNV H827Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.909 235817 chr1 237754020 237754020 C A rs373721253 RYR2 Nonsynonymous SNV N1296K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.105 235818 chr14 94844953 94844953 T C rs201318727 SERPINA1 Nonsynonymous SNV I364V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.023 235819 chr1 238051752 238051752 T C rs148344660 ZP4 Synonymous SNV P153P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 235820 chr20 1610890 1610890 G T SIRPG Nonsynonymous SNV P165T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 235821 chr14 96157122 96157122 G A rs766229714 TCL1B Nonsynonymous SNV R71Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.423 235822 chr17 650114 650114 G A rs140155001 GEMIN4 Nonsynonymous SNV T390M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.1 235823 chr1 247265411 247265411 G A rs747473406 ZNF669 Nonsynonymous SNV S3L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 235824 chr20 18576801 18576801 G A rs11545148 DTD1 Nonsynonymous SNV A96T 0 0 0.007 0 0 0 0 2 0 0 0 0 32 235825 chr20 2083799 2083799 G C rs774459010 STK35 Nonsynonymous SNV R227P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 235826 chr9 4849455 4849455 C T rs771521644 RCL1 Synonymous SNV C106C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.08 235827 chr14 55369257 55369257 G C GCH1 Nonsynonymous SNV P42R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.555 235828 chr20 25058429 25058429 C G VSX1 Nonsynonymous SNV E234Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 235829 chr17 7011218 7011218 C T rs377144273 ASGR2 Nonsynonymous SNV V102M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.54 235830 chr16 334921 334921 - GGACGCCCT rs770944366 PDIA2 D199_M200insALD 0 0.003 0 0 0 1 0 0 0 0 0 0 235831 chr20 2777066 2777088 CCACGTAGCGCACCTCAGGCTCC - CPXM1 E350Wfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 235832 chr20 33297884 33297884 G C rs547430361 TP53INP2 Nonsynonymous SNV E146Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 235833 chr20 34190041 34190041 G A rs57391522 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 235834 chr20 34535456 34535456 G A rs61339761 PHF20 Synonymous SNV P982P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.491 235835 chr20 3564612 3564612 C T rs750953662 ATRN Synonymous SNV S828S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 235836 chr16 56226264 56226264 C G rs747565910 GNAO1 Synonymous SNV L39L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 235837 chr9 95285135 95285135 A G ECM2 Nonsynonymous SNV V5A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 235838 chr11 117109349 117109349 C T rs199853953 RNF214 Nonsynonymous SNV S47L 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.47 235839 chr16 57600571 57600571 G C rs140617670 ADGRG5 Nonsynonymous SNV G203R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.87 235840 chr20 39990609 39990609 C T rs149785434 EMILIN3 Nonsynonymous SNV V534M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.072 235841 chrX 106116883 106116883 T C rs140391999 TBC1D8B Synonymous SNV A1017A 0 0 0.003 2 0 0 0.005 1 0 0 0 1 5.951 235842 chr6 152647526 152647526 G A rs370314344 SYNE1 Synonymous SNV T4995T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.11 235843 chr2 24432888 24432888 G A rs757180870 ITSN2 Synonymous SNV N1384N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.567 235844 chr20 44637640 44637640 G A rs749857186 MMP9 Synonymous SNV Q25Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.469 235845 chr16 68406037 68406037 C T rs533626243 SMPD3 Synonymous SNV L16L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.13 235846 chr14 89172724 89172724 A G EML5 Synonymous SNV N568N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.092 235847 chr6 159465050 159465050 T C rs762723607 TAGAP Nonsynonymous SNV N14S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.464 235848 chr15 55976030 55976032 ATG - PRTG I166del 0.001 0 0 0 1 0 0 0 0 0 0 0 235849 chr2 27907914 27907914 C G rs772898260 SLC4A1AP Nonsynonymous SNV P629R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 235850 chr16 72991509 72991509 G A rs141276031 ZFHX3 Nonsynonymous SNV R846C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 235851 chr16 74729357 74729357 T C rs140587704 MLKL Nonsynonymous SNV D100G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 235852 chr15 65219114 65219114 G A rs554342619 ANKDD1A Synonymous SNV A162A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 235853 chrX 17746117 17746117 C T rs761463158 NHS Synonymous SNV D1099D 0 0 0 2 0 0 0.005 0 0 0 0 1 Uncertain significance 6.652 235854 chr15 65490700 65490700 G C rs374037707 CILP Nonsynonymous SNV L642V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.397 235855 chr16 81211541 81211541 C T PKD1L2 Nonsynonymous SNV V85M 0 0.003 0 0 0 1 0 0 0 0 0 0 6.897 235856 chr11 1272555 1272555 G A rs367833762 MUC5B Synonymous SNV T4815T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.149 235857 chr6 26091703 26091703 G C rs146519482 HFE Nonsynonymous SNV E80Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24 235858 chr6 26373128 26373128 C T rs142279595 BTN3A2 Nonsynonymous SNV P240L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.1 235859 chr5 176941956 176941956 T C DDX41 Synonymous SNV S127S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.009 235860 chr20 62312070 62312070 C G rs150285674 RTEL1 Nonsynonymous SNV Q174E 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 24.2 235861 chr2 55077318 55077318 T C rs747661567 EML6 Synonymous SNV N469N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.726 235862 chr20 62422066 62422066 C A rs146003063 ZBTB46 Synonymous SNV R15R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 235863 chr16 84520334 84520334 A G MEAK7 Synonymous SNV T287T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.984 235864 chr16 84691466 84691466 C T rs150040885 KLHL36 Synonymous SNV G351G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.48 235865 chr15 77021027 77021027 A G SCAPER Synonymous SNV L446L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.366 235866 chr2 64779676 64779676 A G rs144984827 AFTPH Synonymous SNV E356E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 235867 chr21 17222127 17222127 T C rs544902388 USP25 Nonsynonymous SNV I790T 0 0 0.003 0 0 0 0 1 0 0 0 0 21 235868 chr18 11881047 11881047 C T rs563746937 GNAL Synonymous SNV A146A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 235869 chr15 41798132 41798132 G A rs770053745 LTK Nonsynonymous SNV P477L 0 0.003 0 0 0 1 0 0 0 0 0 0 28 235870 chr21 32589953 32589953 C T rs141214847 TIAM1 Synonymous SNV A686A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 235871 chr21 33719447 33719447 G A URB1 Nonsynonymous SNV A1229V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.668 235872 chr15 83345261 83345261 C A AP3B2 Synonymous SNV L507L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 235873 chr15 42133450 42133450 C T rs144317980 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV L138L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.97 235874 chr15 42143101 42143101 C T rs369869947 SPTBN5 Synonymous SNV P3624P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.92 235875 chr2 73677903 73677903 C T rs199615803 ALMS1 Nonsynonymous SNV R1416W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 235876 chr10 104156046 104156046 T C NFKB2 Synonymous SNV L20L 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 8.191 235877 chr10 104572819 104572819 G A WBP1L Nonsynonymous SNV V275M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 24.3 235878 chr15 42152885 42152885 C T rs372584402 SPTBN5 Synonymous SNV A2629A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 235879 chr6 37606352 37606352 C T rs746410221 MDGA1 Synonymous SNV Q876Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 235880 chr15 42439369 42439369 G A rs138573512 PLA2G4F Nonsynonymous SNV L458F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.282 235881 chr21 40574434 40574434 T C rs144295288 BRWD1 Nonsynonymous SNV I1468V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 235882 chr10 105906086 105906086 G A rs148204337 CFAP43 Nonsynonymous SNV R1264W 0 0 0 3 0 0 0.008 0 0 0 0 0 27.8 235883 chr15 43819399 43819399 C T rs764432579 MAP1A Nonsynonymous SNV R1910C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 235884 chr21 43411224 43411224 G A ZBTB21 Nonsynonymous SNV P994L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 235885 chr21 43531345 43531345 G A rs76618631 UMODL1 Synonymous SNV A599A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.83 235886 chr21 43543098 43543098 C T rs58867895 UMODL1 Synonymous SNV I1051I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 16.02 235887 chr21 43621797 43621797 G A rs200084430 ABCG1 Synonymous SNV T4T 0 0 0.007 0 0 0 0 2 0 0 0 0 7.636 235888 chr21 45483497 45483497 T C rs545410290 TRAPPC10 Nonsynonymous SNV M290T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 235889 chr17 1174016 1174016 G C rs938084244 BHLHA9 Synonymous SNV A53A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.04 235890 chr2 106710560 106710560 G A rs79415522 UXS1 Synonymous SNV L227L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.923 235891 chr2 111423850 111423850 T A rs766345681 BUB1 Nonsynonymous SNV E296V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.563 235892 chr21 47766871 47766871 G A rs373209200 PCNT Nonsynonymous SNV R194Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 235893 chr2 113999254 113999254 G A rs750259369 PAX8 Synonymous SNV S217S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.57 235894 chr21 47851538 47851538 G A rs772195074 PCNT Synonymous SNV K2602K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 235895 chr21 47856968 47856968 G A rs771386469 PCNT Nonsynonymous SNV D2828N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 235896 chr10 127782637 127782637 C G rs148749883 ADAM12 Synonymous SNV G354G 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 11.03 235897 chr17 18154176 18154176 G A rs144463561 FLII Synonymous SNV G529G 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 14.65 235898 chr22 19207479 19207479 C T rs36077768 CLTCL1 Nonsynonymous SNV R945H 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 25.7 235899 chr22 19710136 19710136 C T rs73377942 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 18.61 235900 chr6 38810234 38810234 T G rs1013901694 DNAH8 Nonsynonymous SNV D1302E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.976 235901 chr22 21347994 21347994 G A LZTR1 Nonsynonymous SNV R435Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 235902 chr11 19256459 19256459 T G E2F8 Nonsynonymous SNV N200H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.7 235903 chr10 134219733 134219733 G A rs971536848 PWWP2B Nonsynonymous SNV V577M 0 0 0 4 0 0 0.01 0 0 0 0 0 17.71 235904 chr2 138414685 138414685 G A rs371759413 THSD7B Nonsynonymous SNV E1444K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 235905 chr16 15725310 15725310 C T MARF1 Nonsynonymous SNV D427N 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 28.2 235906 chr2 152300147 152300147 A G rs143852417 RIF1 Nonsynonymous SNV K637R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 235907 chr22 24810646 24810646 C T rs561186241 SPECC1L-ADORA2A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.504 235908 chr18 74208660 74208660 G A rs186613376 C18orf65 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.523 235909 chr18 74639368 74639368 A C rs147362673 ZNF236 Nonsynonymous SNV I1437L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 19.63 235910 chr11 28057992 28057992 A G rs142656842 KIF18A Nonsynonymous SNV M723T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.185 235911 chr11 31099470 31099470 T C rs201036016 DCDC1 Nonsynonymous SNV H747R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.011 235912 chr11 33569388 33569388 T C rs751518184 KIAA1549L Nonsynonymous SNV L1155S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.9 235913 chr15 77241485 77241485 G A rs199624474 RCN2 Synonymous SNV P292P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 235914 chr22 28293859 28293859 C T PITPNB Synonymous SNV R73R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 235915 chr17 28407957 28407957 C A rs143114099 EFCAB5 Nonsynonymous SNV H1128Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.529 235916 chr22 29709365 29709365 C T rs1039567934 RASL10A Synonymous SNV L179L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 235917 chr18 9256405 9256405 C A rs151012938 ANKRD12 Nonsynonymous SNV S1024Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 235918 chr18 9256617 9256617 C T rs138287524 ANKRD12 Nonsynonymous SNV L1095F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 235919 chr2 162868339 162868339 C T rs746219215 DPP4 Nonsynonymous SNV G599E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 235920 chr17 33267611 33267611 A G rs774006298 CCT6B Synonymous SNV L268L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.807 235921 chr22 30887668 30887668 C G rs115178857 SEC14L4 Nonsynonymous SNV G325R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 235922 chr22 30887825 30887825 G A rs149720232 SEC14L4 Nonsynonymous SNV L303F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 235923 chr22 30891400 30891400 A G rs80195131 SEC14L4 Synonymous SNV L88L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.621 235924 chr2 163253394 163253394 T C rs767300191 KCNH7 Synonymous SNV A823A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.195 235925 chr16 22134409 22134409 G A rs768783324 VWA3A Nonsynonymous SNV A454T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.47 235926 chr22 30921651 30921651 G A rs199773465 SEC14L6 Synonymous SNV R286R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.607 235927 chr17 33460367 33460367 G A rs2306511 NLE1 Synonymous SNV H163H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.071 235928 chr16 22339833 22339833 T C rs200740325 POLR3E Synonymous SNV F587F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 10.43 235929 chr22 31487159 31487159 C T rs139187830 SMTN Nonsynonymous SNV R440W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 235930 chr22 32666595 32666595 C G rs544526276 SLC5A4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.202 235931 chr16 24873990 24873990 G A rs147549055 SLC5A11 Stop gain W4X 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 38 235932 chr22 36537866 36537866 G C APOL3 Synonymous SNV A197A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.626 235933 chr19 10664873 10664873 G C rs142040324 KRI1 Nonsynonymous SNV S622R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.263 235934 chr22 38620702 38620702 C G rs59711879 SNORA92 0 0 0.003 0 0 0 0 1 0 0 0 0 6.198 235935 chr2 175304662 175304662 C T rs745614550 GPR155 Nonsynonymous SNV R731H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 235936 chr22 40081856 40081856 G T rs771105041 CACNA1I Nonsynonymous SNV D2005Y 0 0 0.01 0 0 0 0 3 0 0 0 0 29.4 235937 chr19 12059543 12059543 G A rs111342482 ZNF700 Nonsynonymous SNV S238N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.921 235938 chr19 12060786 12060786 A G rs111677828 ZNF700 Synonymous SNV E652E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.803 235939 chr19 12087882 12087882 G A rs111399037 ZNF763 Synonymous SNV V14V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 3.875 235940 chr10 49430359 49430359 C T rs147558703 FRMPD2 Synonymous SNV K460K 0 0 0 2 0 0 0.005 0 0 0 0 0 14.96 235941 chr19 14165200 14165200 C T rs376406824 PALM3 Synonymous SNV G362G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.049 235942 chr10 50531716 50531716 C A rs182247538 C10orf71 Nonsynonymous SNV P376T 0.003 0.008 0.01 3 4 3 0.008 3 0 0 0 0 0.002 235943 chr22 45128145 45128145 G A rs137965452 PRR5 Synonymous SNV S48S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.17 235944 chr10 51582831 51582831 C T rs782003592 NCOA4 Synonymous SNV S202S 0 0 0 3 0 0 0.008 0 0 0 0 0 11.85 235945 chr22 50943936 50943936 G A LMF2 Nonsynonymous SNV S291L 0 0 0.003 0 0 0 0 1 0 0 0 0 22 235946 chr10 69934018 69934018 G A rs149357638 MYPN Synonymous SNV P723P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 12.85 235947 chr7 107748128 107748128 T A rs367676810 LAMB4 Nonsynonymous SNV D180V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26.5 235948 chr2 203055098 203055098 A G KIAA2012 Nonsynonymous SNV K898R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 235949 chr7 11581218 11581218 A G rs997023057 THSD7A Synonymous SNV T550T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.318 235950 chr17 41957295 41957295 G A MPP2 Nonsynonymous SNV S392F 0 0.003 0 0 0 1 0 0 0 0 0 0 26 235951 chr10 73475790 73475790 C A C10orf105 Nonsynonymous SNV S102I 0 0 0 2 0 0 0.005 0 0 0 0 0 32 235952 chr2 108622522 108622522 A G rs372145153 SLC5A7 Synonymous SNV P148P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.323 235953 chr19 1816330 1816330 G A rs139590793 REXO1 Synonymous SNV T1157T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.82 235954 chr2 210559148 210559148 G T rs142338628 MAP2 Nonsynonymous SNV A748S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 235955 chr19 18332983 18332983 C T rs375157070 PDE4C Synonymous SNV S99S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.6 235956 chr2 11361483 11361483 G A rs369959149 ROCK2 Nonsynonymous SNV T281M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 235957 chr19 1923104 1923104 G A SCAMP4 Nonsynonymous SNV S100N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 235958 chr2 220162770 220162770 C T rs200004871 PTPRN Nonsynonymous SNV R546H 0 0 0 2 0 0 0.005 0 0 0 0 1 22.1 235959 chr2 122182729 122182729 T C rs115822315 CLASP1 Nonsynonymous SNV N733S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.547 235960 chr10 91203609 91203609 A - SLC16A12 S70Qfs*25 0 0 0 3 0 0 0.008 0 0 0 0 0 235961 chr2 145162431 145162431 C T rs747482254 ZEB2 Synonymous SNV T164T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.63 235962 chr7 142583164 142583164 C T rs151059940 TRPV6 Nonsynonymous SNV R73Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.06 235963 chr19 32845409 32845409 A G ZNF507 Nonsynonymous SNV N558S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.935 235964 chr2 153535879 153535879 A C rs747272164 PRPF40A Synonymous SNV L230L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.311 235965 chr11 100845333 100845333 T C rs375723100 ARHGAP42 Synonymous SNV D618D 0 0 0 4 0 0 0.01 0 0 0 0 0 0.008 235966 chr17 56058102 56058102 T C VEZF1 Nonsynonymous SNV M280V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 235967 chr17 565133 565133 C T VPS53 Synonymous SNV A96A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.92 235968 chr16 49670483 49670483 G A ZNF423 Synonymous SNV G743G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.314 235969 chr7 2883604 2883604 G A rs370411084 GNA12 Synonymous SNV G64G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.61 235970 chr16 50765663 50765663 G T rs5743295 NOD2 Nonsynonymous SNV R992L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 31 235971 chr2 241969921 241969921 A G SNED1 Nonsynonymous SNV N145S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 235972 chr7 5410498 5410498 G A rs61743883 TNRC18 Synonymous SNV L1243L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.179 235973 chr19 3751311 3751311 C T rs148643624 APBA3 Nonsynonymous SNV R511H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.3 235974 chr19 37677067 37677067 G A rs150349013 ZNF585B Stop gain R458X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 235975 chr3 3080652 3080652 G A rs764296959 CNTN4 Nonsynonymous SNV G381R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 235976 chr16 57012067 57012067 C A rs752298084 CETP Nonsynonymous SNV S289Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 20.5 235977 chr17 6946818 6946818 G A rs9906057 SLC16A11 Synonymous SNV P5P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.06 235978 chr2 190592697 190592697 A T ANKAR Nonsynonymous SNV K917N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 235979 chr7 16621061 16621061 C T rs917742875 LRRC72 Nonsynonymous SNV L271F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.82 235980 chr11 68571528 68571528 G A rs139789100 CPT1A Synonymous SNV Y165Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.924 235981 chr2 192265111 192265111 C G MYO1B Nonsynonymous SNV R767G 0 0 0.003 0 0 0 0 1 0 0 0 0 34 235982 chr2 202712127 202712127 A T rs187005870 CDK15 Nonsynonymous SNV E292V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 235983 chr17 12656083 12656083 C T rs774155323 MYOCD Nonsynonymous SNV T493M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 235984 chr2 207169918 207169918 C A rs200044367 ZDBF2 Nonsynonymous SNV N222K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 235985 chr2 207634892 207634892 T C rs752584843 FASTKD2 Synonymous SNV N285N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.422 235986 chr11 85438188 85438188 C G rs199940366 SYTL2 Nonsynonymous SNV G738A 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 2.842 235987 chr3 27393959 27393959 T C rs772405007 NEK10 Synonymous SNV Q43Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.908 235988 chr2 21230292 21230292 A G rs185224477 APOB Nonsynonymous SNV F3150L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 21.9 235989 chr2 21232646 21232646 G A rs200034452 APOB Nonsynonymous SNV A2365V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.038 235990 chr19 42461028 42461028 G A rs112047575 RABAC1 Synonymous SNV D176D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.07 235991 chr19 42794832 42794832 G C CIC Nonsynonymous SNV E638Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 235992 chr3 33633913 33633913 C T rs554149266 CLASP2 Nonsynonymous SNV R448Q 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 235993 chr19 436628 436628 A G SHC2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 235994 chr3 37034545 37034545 G A EPM2AIP1 Synonymous SNV S8S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.211 235995 chr2 218999614 218999614 C T rs142762038 CXCR2 Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.2 235996 chr2 219128427 219128427 T C rs201528234 GPBAR1 Nonsynonymous SNV L327P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 235997 chr2 219529127 219529127 C T rs768255952 RNF25 Synonymous SNV A311A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 235998 chr3 38936328 38936328 C T rs753346948 SCN11A Nonsynonymous SNV C844Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.006 235999 chr17 74622467 74622467 C T rs192529976 ST6GALNAC1 Nonsynonymous SNV R440H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 236000 chr3 40192589 40192589 G A rs780253855 MYRIP Nonsynonymous SNV R128H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 236001 chr2 220479894 220479894 C A rs111452619 STK11IP Nonsynonymous SNV P983Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 236002 chr17 76535879 76535879 A G DNAH17 Synonymous SNV D872D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 236003 chr11 111941856 111941856 G T PIH1D2 Synonymous SNV T151T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.003 236004 chr11 124670356 124670356 G A rs898100972 LOC100507283 0 0 0 1 0 0 0.003 0 0 0 0 0 14.85 236005 chr2 227661097 227661097 A G rs137866175 IRS1 Synonymous SNV H786H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.038 236006 chr2 227663056 227663056 C T IRS1 Synonymous SNV G133G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.247 236007 chr17 27009997 27009997 C T rs145911750 SUPT6H Nonsynonymous SNV R589C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 236008 chr11 93911692 93911692 C T rs371181159 PANX1 Nonsynonymous SNV A160V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.056 236009 chr17 27958790 27958790 G C rs61737984 SSH2 Nonsynonymous SNV A1114G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.009 236010 chr17 29119649 29119649 C T rs182825471 SUZ12P1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.26 236011 chr3 47165978 47165978 C T rs191985301 SETD2 Nonsynonymous SNV A6T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.6 236012 chr2 235962253 235962253 G A rs199919152 SH3BP4 Synonymous SNV A895A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.39 236013 chr11 122848401 122848401 T G BSX Nonsynonymous SNV I220L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 236014 chr19 49119368 49119368 G A rs751285320 RPL18 Nonsynonymous SNV S101F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 236015 chr3 52783785 52783785 G A rs559819855 NEK4 Nonsynonymous SNV R388C 0 0 0 1 0 0 0.003 0 0 0 0 0 6.272 236016 chr3 62259442 62259442 A C rs141205324 PTPRG Nonsynonymous SNV N1130H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.89 236017 chr18 11888700 11888700 G A rs143153789 MPPE1 Synonymous SNV S179S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 5.25 236018 chr12 116421284 116421284 G A rs138774472 MED13L Synonymous SNV T1531T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign 12.11 236019 chr3 77681728 77681728 C T rs553805908 ROBO2 Synonymous SNV S1292S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.38 236020 chr18 13645443 13645443 C G rs758124746 LDLRAD4 Synonymous SNV G181G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.637 236021 chr2 27680599 27680599 T A IFT172 Synonymous SNV L1045L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.376 236022 chr2 27729673 27729673 C T rs548780141 GCKR Synonymous SNV H329H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.05 236023 chr11 134152000 134152000 C T GLB1L3 Synonymous SNV L171L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 236024 chr11 2439507 2439507 G A rs200637642 TRPM5 Synonymous SNV L266L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.426 236025 chr3 101293069 101293069 G A PCNP Nonsynonymous SNV G4R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 236026 chr19 51875296 51875296 T C rs34131521 NKG7 Nonsynonymous SNV T113A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.5 236027 chr19 51875394 51875394 A C rs116564530 NKG7 Nonsynonymous SNV W74G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.885 236028 chr2 31489097 31489097 C T rs147087074 EHD3 Synonymous SNV L379L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 236029 chr19 52272290 52272290 G C rs75905426 FPR2 Nonsynonymous SNV V127L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.3 236030 chr7 102108195 102108195 C G rs34048535 LRWD1 Synonymous SNV A49A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.58 236031 chr8 131073268 131073268 G A rs140559309 ASAP1 Nonsynonymous SNV P860S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.75 236032 chr18 44660977 44660977 A G HDHD2 Nonsynonymous SNV I67T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 236033 chr11 3844218 3844218 C T PGAP2 Nonsynonymous SNV P72S 0 0 0 2 0 0 0.005 0 0 0 0 0 4.002 236034 chr17 45376783 45376783 G A rs139884210 ITGB3 Synonymous SNV L600L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.14 236035 chr2 65309695 65309695 C T rs370298053 CEP68 Synonymous SNV I710I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.16 236036 chr12 15091367 15091367 C T rs754660698 ERP27 Nonsynonymous SNV E26K 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 22.4 236037 chr18 60029014 60029014 A G rs148185533 TNFRSF11A Nonsynonymous SNV K240E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 28.4 236038 chr3 132277729 132277729 C T rs1011772602 NPHP3-ACAD11 0 0 0 2 0 0 0.005 0 0 0 0 1 2.839 236039 chr2 73747074 73747074 C T rs201252375 ALMS1 Nonsynonymous SNV R3237C 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 236040 chr2 79364314 79364314 G A rs551323906 REG1CP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 236041 chr2 85921559 85921559 C T GNLY Synonymous SNV L6L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.341 236042 chr2 97364456 97364456 C A rs866819675 FER1L5 Nonsynonymous SNV P1469T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 236043 chr7 142562179 142562179 C T rs143064665 EPHB6 Synonymous SNV R207R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.73 236044 chr7 142566731 142566731 G A rs148701267 EPHB6 Nonsynonymous SNV R471Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 236045 chr8 145731287 145731287 C G rs150447348 GPT Nonsynonymous SNV R266G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 10.96 236046 chr18 8819233 8819233 G A MTCL1 Synonymous SNV R1044R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 236047 chr8 146032714 146032714 A T rs10093836 ZNF517 Nonsynonymous SNV H131L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 236048 chr3 169550836 169550836 C T rs767481838 LRRIQ4 Synonymous SNV S465S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 236049 chr3 179095136 179095136 C T MFN1 Nonsynonymous SNV S410L 0 0 0 2 0 0 0.005 0 0 0 0 1 32 236050 chr3 112648129 112648129 C T rs144544564 CD200R1 Nonsynonymous SNV R120H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.95 236051 chr3 113207891 113207891 C T rs540518167 SPICE1 Nonsynonymous SNV G171D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.222 236052 chr3 119347569 119347569 G A rs759577229 PLA1A Synonymous SNV G208G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.816 236053 chr17 72560373 72560373 C T rs8075296 CD300H, LOC100130520 Nonsynonymous SNV V35M 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 7.846 236054 chr12 51597912 51597912 G A POU6F1 Synonymous SNV C96C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.038 236055 chr12 52824446 52824446 A - KRT75 V305Gfs*66 0.001 0 0 2 1 0 0.005 0 0 0 0 0 236056 chr3 123046468 123046468 C A ADCY5 Nonsynonymous SNV K298N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 236057 chr17 47583842 47583842 G A rs146439856 NGFR Synonymous SNV A130A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.79 236058 chr17 74080610 74080610 C G EXOC7 Nonsynonymous SNV Q557H 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 24.9 236059 chr17 74133946 74133946 G A FOXJ1 Nonsynonymous SNV R252W 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 24.2 236060 chr8 8234868 8234868 - GCCGCTGCCGCT rs150979349 PRAG1, PRAG1 G350_A351insSGSG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236061 chr4 155509 155509 G A rs782056700 ZNF718 Nonsynonymous SNV G345E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.874 236062 chr17 7530703 7530703 A G SAT2 Synonymous SNV D111D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.882 236063 chr19 880081 880081 G A rs117097731 MED16 Synonymous SNV A403A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 15.83 236064 chr11 56230347 56230347 A C rs750016652 OR5M9 Nonsynonymous SNV C177W 0 0 0 3 0 0 0.008 0 0 0 0 0 25.1 236065 chr19 9003615 9003615 C T rs200286056 MUC16 Nonsynonymous SNV R13342H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.025 236066 chr19 9003640 9003640 G T rs76660617 MUC16 Nonsynonymous SNV L13334M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.26 236067 chr4 1801204 1801204 G A FGFR3 Synonymous SNV Q111Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.582 236068 chr8 54891686 54891686 T C TCEA1 Nonsynonymous SNV K221E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 236069 chr19 1619427 1619427 C T rs201296678 TCF3 Nonsynonymous SNV R405H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 236070 chr4 2254162 2254162 G A rs2233039 MXD4 Synonymous SNV L94L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.38 236071 chr19 16535975 16535975 G A EPS15L1 Synonymous SNV R237R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 236072 chr4 2444955 2444955 C T rs777376101 CFAP99 Synonymous SNV I150I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.899 236073 chr17 55195761 55195761 G A rs7212834 AKAP1 Synonymous SNV P840P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.31 236074 chr12 56536668 56536668 T C ESYT1 Nonsynonymous SNV W990R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 236075 chr19 9213396 9213396 G A rs7247751 OR7G2 Nonsynonymous SNV P196L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.41 236076 chr8 6669832 6669832 G A XKR5 Synonymous SNV S316S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.949 236077 chr19 9297078 9297078 C T rs61743116 OR7D2 Synonymous SNV G207G 0.003 0.005 0 0 3 2 0 0 0 1 0 0 11.09 236078 chr19 9361854 9361854 C T rs185784976 OR7E24 Synonymous SNV L45L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.988 236079 chr19 9407518 9407518 T C rs114007535 ZNF699 Nonsynonymous SNV R188G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.23 236080 chr11 57577619 57577619 T C rs556628331 CTNND1 Nonsynonymous SNV V718A 0 0 0 2 0 0 0.005 0 0 0 0 0 22.1 236081 chr19 17622693 17622693 C T PGLS Nonsynonymous SNV A71V 0 0.003 0 0 0 1 0 0 0 0 0 0 26 236082 chr8 77767065 77767065 T C rs774611620 ZFHX4 Synonymous SNV D2636D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 236083 chr3 138191662 138191662 C T rs200613499 ESYT3 Nonsynonymous SNV S733F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 236084 chr11 57958799 57958799 G A rs146168200 OR9Q2 Synonymous SNV T279T 0 0 0 2 0 0 0.005 0 0 0 0 0 6.514 236085 chr19 17692043 17692043 G A rs142585342 COLGALT1 Synonymous SNV P553P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.135 236086 chr3 140123598 140123598 C T rs113602686 CLSTN2 Synonymous SNV I209I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 236087 chr11 58189814 58189814 T A rs76369042 OR5B2 Nonsynonymous SNV K307N 0 0 0 2 0 0 0.005 0 0 0 0 0 2.749 236088 chr4 8221220 8221220 C T rs138612545 SH3TC1 Nonsynonymous SNV R283W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 236089 chr11 59132486 59132486 G A rs73480618 OR5AN1 Synonymous SNV L185L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.294 236090 chr11 59132671 59132671 C A rs115089921 OR5AN1 Nonsynonymous SNV T247K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 236091 chr3 146246480 146246494 ACTGGCTGATTATAT - rs560058273 PLSCR1 Y67_V71del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 236092 chr4 8582758 8582758 G C rs765831521 GPR78 Nonsynonymous SNV A17P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.96 236093 chr11 59224693 59224693 C T rs116338722 OR4D6 Nonsynonymous SNV S87L 0 0 0 2 0 0 0.005 0 0 0 0 0 17.71 236094 chr17 79892197 79892200 CCCA - PYCR1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 236095 chr11 59245483 59245483 T C rs115103216 OR4D10 Nonsynonymous SNV I194T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.027 236096 chr19 18468230 18468230 C G rs143326827 PGPEP1 Nonsynonymous SNV T4R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 236097 chr11 59564822 59564822 T C rs34753750 STX3 Nonsynonymous SNV S285P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 10.79 236098 chr11 59577364 59577364 C T rs7122468 MRPL16 Nonsynonymous SNV G29S 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 236099 chr11 59611361 59611361 C T rs115964827 CBLIF Nonsynonymous SNV D83N 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 10.38 236100 chr11 59611416 59611416 G A rs1011636376 CBLIF Synonymous SNV A64A 0 0 0 2 0 0 0.005 0 0 0 0 0 5.615 236101 chr11 59626644 59626644 C A rs75927196 TCN1 Nonsynonymous SNV S218I 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 10.23 236102 chr3 157154727 157154727 A G rs775311371 PTX3 Nonsynonymous SNV H2R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 236103 chr12 7290573 7290573 G A rs143159646 CLSTN3 Synonymous SNV S411S 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 10.94 236104 chr11 60215178 60215178 T C rs75338981 MS4A5 Synonymous SNV P183P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 236105 chr4 20619178 20619178 C T rs143417693 SLIT2 Nonsynonymous SNV A1414V 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Likely benign 22.5 236106 chr8 37695259 37695259 C T rs376654554 ADGRA2 Synonymous SNV G687G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.66 236107 chr4 25672373 25672373 T C SLC34A2 Nonsynonymous SNV V281A 0 0 0 1 0 0 0.003 0 0 0 0 0 22 236108 chr1 114438630 114438630 C T AP4B1 Nonsynonymous SNV R346Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 236109 chr12 102542124 102542124 C T rs374160614 PARPBP Synonymous SNV D90D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.02 236110 chr8 57026430 57026430 C T rs770409554 MOS Nonsynonymous SNV A38T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.955 236111 chr4 41628878 41628878 A G LIMCH1 Synonymous SNV A293A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.253 236112 chr1 12262195 12262195 G A TNFRSF1B Nonsynonymous SNV A358T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.056 236113 chr19 36277904 36277904 C G ARHGAP33 Synonymous SNV A708A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.52 236114 chr8 104337497 104337497 C A rs142694816 FZD6 Nonsynonymous SNV A83D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.9 236115 chr3 197238950 197238950 T A rs140040785 BDH1 Nonsynonymous SNV K283M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 236116 chr9 129973015 129973015 T G RALGPS1 Nonsynonymous SNV V360G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 236117 chr1 152185576 152185576 C A rs377441785 HRNR Nonsynonymous SNV E2843D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.85 236118 chr4 76836110 76836110 C T rs199930989 NAAA Nonsynonymous SNV A343T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 236119 chr9 131589313 131589313 G C rs370340839 SPOUT1 Synonymous SNV A122A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.67 236120 chr9 132374714 132374714 C T rs146484870 C9orf50 Nonsynonymous SNV R403Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 236121 chr1 154987911 154987911 G A rs200937964 ZBTB7B Nonsynonymous SNV G259R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 236122 chr4 83795820 83795820 C A rs534068962 SEC31A Nonsynonymous SNV V190L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 236123 chr4 83795821 83795821 A T rs554009914 SEC31A Synonymous SNV T189T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.564 236124 chr9 132637681 132637681 G A rs769143727 USP20 Nonsynonymous SNV R714H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 236125 chr12 132396623 132396623 C T rs61731338 ULK1 Nonsynonymous SNV A362V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 236126 chr1 155177643 155177643 C A rs202082439 THBS3 Nonsynonymous SNV A9S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.2 236127 chr11 7021385 7021385 C T rs148609230 ZNF214 Nonsynonymous SNV R510H 0 0 0 3 0 0 0.008 0 0 0 0 0 24.2 236128 chr4 94750360 94750360 C T rs200577041 ATOH1 Nonsynonymous SNV P95S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.22 236129 chr18 61570473 61570473 T C rs571180676 SERPINB2 Synonymous SNV F394F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.078 236130 chr4 100534247 100534247 G A rs371023325 MTTP Nonsynonymous SNV D750N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 236131 chr19 4345798 4345798 C T rs749222856 MPND Synonymous SNV T117T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.157 236132 chr4 110394257 110394257 A G rs377611429 SEC24B Synonymous SNV S325S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.452 236133 chr18 74639936 74639936 G A rs369649712 ZNF236 Nonsynonymous SNV G1490S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.793 236134 chr4 110605767 110605767 A G rs79405119 MCUB Nonsynonymous SNV M261V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.2 236135 chr4 110791669 110791669 C G LRIT3 Synonymous SNV T588T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.682 236136 chr11 773631 773631 T A GATD1 0 0 0 3 0 0 0.008 0 0 0 0 0 24.9 236137 chr19 44377105 44377105 T C rs755617673 ZNF404 Nonsynonymous SNV S418G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.008 236138 chr18 77917972 77917972 G C rs200614747 PARD6G Nonsynonymous SNV D271E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.03 236139 chr4 119273820 119273820 A G rs772331683 PRSS12 Nonsynonymous SNV V19A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.347 236140 chr4 119951584 119951584 A C SYNPO2 Nonsynonymous SNV K552Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.183 236141 chr1 160327006 160327006 G A rs17854508 NCSTN Nonsynonymous SNV R519H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 236142 chr3 49832767 49832767 G A rs568795114 CDHR4 Nonsynonymous SNV T298I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.117 236143 chr3 50378063 50378063 C - RASSF1 A60Pfs*93 0 0 0.003 0 0 0 0 1 0 0 0 0 236144 chr3 52820400 52820400 C T rs773732229 ITIH1 Synonymous SNV H273H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.36 236145 chr8 145694131 145694131 C T KIFC2 Synonymous SNV L343L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.5 236146 chr3 52855085 52855085 T C rs760260451 ITIH4 Nonsynonymous SNV Q534R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 236147 chr4 148463676 148463676 C T rs775518063 EDNRA Nonsynonymous SNV S288L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 236148 chr3 53912418 53912418 T C rs143290220 ACTR8 Nonsynonymous SNV N124S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 236149 chr1 1689828 1689828 G A rs774626473 NADK Nonsynonymous SNV T48M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.07 236150 chr9 12695719 12695719 A G rs751943375 TYRP1 Nonsynonymous SNV K197R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.133 236151 chr4 156618222 156618222 G A rs148621325 GUCY1A1 Nonsynonymous SNV R68Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 236152 chr3 68802082 68802082 G A rs201735936 TAFA4 Nonsynonymous SNV T73M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 236153 chr18 48723015 48723015 G A MEX3C Nonsynonymous SNV R226W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 236154 chr4 165878150 165878150 G C rs538308363 FAM218A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.956 236155 chr4 166131323 166131323 T G KLHL2 Nonsynonymous SNV I10S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.607 236156 chr3 8981246 8981246 G A RAD18 Synonymous SNV S232S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 236157 chr3 97541112 97541112 C T rs1005314707 CRYBG3 Nonsynonymous SNV P21L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 236158 chr1 176525784 176525784 C T rs199877001 PAPPA2 Nonsynonymous SNV P109L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 236159 chr9 34972494 34972494 C T PHF24 Nonsynonymous SNV A177V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 236160 chr9 35042279 35042279 G C C9orf131 Nonsynonymous SNV G10R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 236161 chr9 35093123 35093123 C T PIGO Synonymous SNV G341G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.012 236162 chr1 17714911 17714911 C T rs752290325 PADI6 Nonsynonymous SNV P239S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.23 236163 chr9 35546542 35546542 T G RUSC2 Synonymous SNV T8T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.493 236164 chr4 100232705 100232705 G A rs760179023 ADH1B Nonsynonymous SNV R313C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.5 236165 chr12 108919995 108919995 C T SART3 Nonsynonymous SNV V751M 0 0 0 2 0 0 0.005 0 0 0 0 0 27.7 236166 chr14 20692353 20692353 T C rs146076639 OR11H6 Nonsynonymous SNV L162P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.9 236167 chr12 109182939 109182939 C T rs138286846 SSH1 Nonsynonymous SNV G659R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 0.187 236168 chr9 35906563 35906595 CCGCCACACCCCTCACCACCTCCACCACCACCA - rs770122813 HRCT1 R94_H104del 0 0 0 2 0 0 0.005 0 0 0 0 0 236169 chr9 36112460 36112460 - A rs935356864 RECK Frameshift insertion N685Kfs*16 0 0 0 2 0 0 0.005 0 0 0 0 0 236170 chr9 36222809 36222809 C T rs201808007 GNE Nonsynonymous SNV G423E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 29.8 236171 chr19 49206784 49206784 C T rs187897549 FUT2 Nonsynonymous SNV R191W 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 236172 chr12 109693958 109693958 G A rs748417042 ACACB Synonymous SNV T2060T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.78 236173 chr1 179961313 179961313 A G rs779205155 CEP350 Nonsynonymous SNV K118E 0.005 0.003 0 0 6 1 0 0 1 0 0 0 25.1 236174 chr12 111321908 111321908 C A rs151096735 CCDC63 Nonsynonymous SNV L231M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.5 236175 chr1 183109600 183109600 G A rs183296150 LAMC1 Nonsynonymous SNV S1512N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.51 236176 chr9 73736268 73736268 C A rs377070124 TRPM3 Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 236177 chr4 115589357 115589357 A G UGT8 Nonsynonymous SNV M387V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 236178 chr4 115898360 115898360 C G rs145141232 NDST4 Nonsynonymous SNV G350A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 27.9 236179 chr5 1219692 1219692 T A rs905741990 SLC6A19 Nonsynonymous SNV L484Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 236180 chr5 2749776 2749776 G A IRX2 Synonymous SNV A125A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.98 236181 chr1 198498227 198498227 C T ATP6V1G3 Nonsynonymous SNV R56Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.16 236182 chr12 122261385 122261385 G A rs760923776 SETD1B Nonsynonymous SNV E1634K 0 0 0 2 0 0 0.005 0 0 0 0 0 20.6 236183 chr14 36211597 36211597 C G rs147632848 RALGAPA1 Nonsynonymous SNV E476Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.26 236184 chr1 203014606 203014606 C T rs145044394 PPFIA4 Synonymous SNV L259L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.44 236185 chr1 203017419 203017419 A G rs569413753 PPFIA4 Nonsynonymous SNV K402R 0.002 0 0 0 2 0 0 0 0 0 0 0 23 236186 chr4 166307424 166307424 G C rs200005096 MIR578 0 0 0.003 0 0 0 0 1 0 0 0 0 0.478 236187 chr9 113212459 113212459 C T rs200519868 SVEP1 Nonsynonymous SNV G1328E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.25 236188 chr5 55082439 55082439 C T rs776152217 DDX4 Nonsynonymous SNV P171S 0 0 0 1 0 0 0.003 0 0 0 0 0 30 236189 chr12 14766211 14766211 C T rs118078831 GUCY2C Nonsynonymous SNV R1021H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.8 236190 chr1 20991117 20991117 C T rs377443985 KIF17 Nonsynonymous SNV R1016H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 236191 chr9 123206019 123206019 A G rs374650359 CDK5RAP2 Synonymous SNV A779A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.77 236192 chr4 187557781 187557781 C T rs570920893 FAT1 Synonymous SNV S1310S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 236193 chr9 124584923 124584923 G A rs778063545 TTLL11 Synonymous SNV P782P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.123 236194 chr14 68301914 68301914 G A RAD51B 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 26.9 236195 chr4 2930043 2930043 C A ADD1 Nonsynonymous SNV S669R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.596 236196 chr4 3514737 3514737 G A rs758357054 LRPAP1 Synonymous SNV S346S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 236197 chr9 130098500 130098500 C T rs553861706 GARNL3 Nonsynonymous SNV R323C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 236198 chr12 40629444 40629444 C T rs41286468 LRRK2 Synonymous SNV L122L 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 13.8 236199 chr1 228506752 228506752 C T rs369823285 OBSCN Nonsynonymous SNV R4767C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 236200 chr9 131885400 131885400 G A rs997211806 PTPA Nonsynonymous SNV E32K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.5 236201 chr19 18546955 18546955 C T rs374356733 ISYNA1 Nonsynonymous SNV A160T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 236202 chr19 58863460 58863460 T - rs72108114 A1BG-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 236203 chr19 58863753 58863753 G A rs115704323 A1BG Nonsynonymous SNV A170V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.37 236204 chr19 58867843 58867843 C T rs61732979 ZNF497 Nonsynonymous SNV A387T 0 0.005 0 0 0 2 0 0 0 0 0 0 16.88 236205 chr4 48993995 48993995 T C rs766301982 CWH43 Synonymous SNV L106L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.66 236206 chr1 230468760 230468760 G A rs889200747 PGBD5 Nonsynonymous SNV A368V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 236207 chr19 19431719 19431719 G T MAU2 Synonymous SNV A17A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.11 236208 chr9 133907461 133907461 C T rs138847934 LAMC3 Synonymous SNV I236I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16.79 236209 chr14 81744662 81744662 G A rs773301204 STON2 Synonymous SNV F331F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.604 236210 chr19 58982699 58982699 C T rs61186597 ZNF324 Synonymous SNV T280T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 236211 chr10 105945842 105945842 C T rs17116635 CFAP43 Nonsynonymous SNV V634I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.123 236212 chr19 42132120 42132120 G A rs370823147 CEACAM4 Synonymous SNV A93A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.073 236213 chr10 112655815 112655815 C T PDCD4 Nonsynonymous SNV S426F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 236214 chr4 6081998 6081998 G A rs148653247 JAKMIP1 Synonymous SNV T216T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 236215 chr1 234528239 234528243 GATGG - rs754169343 TARBP1 T1539Nfs*19 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236216 chr1 234528246 234528251 TAACCT - rs758207258 TARBP1 E1536_Y1538delinsD 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236217 chr19 42821963 42821963 C G TMEM145 Nonsynonymous SNV L349V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15 236218 chr5 135283044 135283044 C T rs755344880 LECT2 Synonymous SNV S144S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 236219 chr4 6863742 6863742 A G rs73796359 KIAA0232 Nonsynonymous SNV T545A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 236220 chr19 44235757 44235757 C T rs186184452 SMG9 Synonymous SNV L518L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.05 236221 chr4 70359415 70359415 G A rs376958181 UGT2B4 Nonsynonymous SNV P289L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 236222 chr5 139908938 139908938 G A rs542858619 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV R2136Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 236223 chr1 237774155 237774155 C T RYR2 Nonsynonymous SNV H1593Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 236224 chr5 140012063 140012063 T C rs761857292 CD14 Nonsynonymous SNV K169R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 236225 chr19 33696396 33696396 C T rs771245785 LRP3 Synonymous SNV C240C 0 0.003 0 0 0 1 0 0 0 0 0 0 6.765 236226 chr10 120467061 120467061 T C rs756532829 CACUL1 Nonsynonymous SNV I212M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.68 236227 chr4 755186 755186 C T rs34100269 PCGF3 Synonymous SNV N194N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.011 236228 chr14 99641544 99641546 CTC - rs776243488 BCL11B E471del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 236229 chr5 140307358 140307358 A G rs143568645 PCDHAC1 Nonsynonymous SNV Q294R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 236230 chr4 774992 774992 G A LOC100129917 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 236231 chr4 7774504 7774504 C G rs60282676 AFAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.908 236232 chr10 124712515 124712515 G T C10orf88 Nonsynonymous SNV N66K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.035 236233 chr4 79512732 79512732 C T rs140470799 ANXA3 Synonymous SNV S146S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.94 236234 chr4 80246729 80246729 G A rs61747710 NAA11 Synonymous SNV N101N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.736 236235 chr12 55726162 55726162 G A rs371374392 OR6C3 Synonymous SNV P226P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.164 236236 chr19 45209134 45209134 C T rs775440282 CEACAM16 Synonymous SNV L312L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.41 236237 chr4 8390958 8390958 G A rs113402127 ACOX3 Synonymous SNV P493P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.611 236238 chr12 57167654 57167654 G A rs529002460 HSD17B6 Synonymous SNV A6A 0 0 0 2 0 0 0.005 0 0 0 0 0 12.78 236239 chr10 133769287 133769287 G T PPP2R2D Synonymous SNV P229P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.216 236240 chr10 134258713 134258713 G T C10orf91 0 0 0 1 0 0 0.003 0 0 0 0 0 0.665 236241 chr4 951619 951619 A G rs139228186 TMEM175 Nonsynonymous SNV N202D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 236242 chr15 41769476 41769476 C T rs532902807 RTF1 Synonymous SNV S558S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.09 236243 chr15 22990122 22990122 T C CYFIP1 Synonymous SNV F483F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.553 236244 chr12 64174879 64174879 A G rs745327804 RXYLT1 Nonsynonymous SNV S84G 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.669 236245 chr15 42115695 42115695 C T rs140507811 MAPKBP1 Nonsynonymous SNV R1217W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.7 236246 chr12 6457144 6457144 T - SCNN1A A695Pfs*2 0.001 0 0 3 1 0 0.008 0 0 0 0 0 236247 chr5 10387118 10387118 A G rs762685475 MARCHF6 Nonsynonymous SNV K11R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 236248 chr15 40457322 40457322 G C BUB1B Nonsynonymous SNV G35A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.9 236249 chr10 19641228 19641228 T C MALRD1 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 236250 chr12 78225412 78225412 G A rs781007186 NAV3 Synonymous SNV A57A 0 0 0 2 0 0 0.005 0 0 0 0 0 6.981 236251 chr15 42032353 42032353 C T rs779785984 MGA Nonsynonymous SNV R1513C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 31 236252 chr5 130769257 130769257 A C rs756755201 RAPGEF6 Synonymous SNV S1280S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.136 236253 chr5 131729934 131729934 G A SLC22A5 Synonymous SNV R548R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.698 236254 chr5 176863407 176863407 A T GRK6 Nonsynonymous SNV D217V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 236255 chr5 135277049 135277049 C T rs138643043 FBXL21P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.229 236256 chr1 111061188 111061188 - G KCNA10 Frameshift insertion G75Rfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 236257 chr10 32310054 32310054 A G rs200095666 KIF5B Synonymous SNV A700A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.414 236258 chr10 323280 323280 C T rs780129035 DIP2C Synonymous SNV V1552V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 236259 chr5 179228570 179228570 G C rs771619076 MGAT4B Synonymous SNV G151G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.82 236260 chr5 179263548 179263548 G A rs143977783 SQSTM1 Synonymous SNV A426A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.39 236261 chr15 65931990 65931990 C T rs200758853 SLC24A1 Nonsynonymous SNV R650C 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Uncertain significance 27.9 236262 chr15 71055678 71055678 G A rs773521027 UACA Synonymous SNV A23A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.36 236263 chr6 5404833 5404833 C T FARS2 Nonsynonymous SNV S224F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 236264 chr19 45649186 45649186 G A rs769789688 PPP1R37 Synonymous SNV P624P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.294 236265 chr6 12125755 12125755 C A rs199541253 HIVEP1 Synonymous SNV I1909I 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 10.88 236266 chr15 78337304 78337304 G A rs376116577 TBC1D2B Synonymous SNV P207P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.679 236267 chr5 150501738 150501738 G A rs372417182 ANXA6 Synonymous SNV Y407Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.154 236268 chr6 18215335 18215335 C T rs200223055 KDM1B Nonsynonymous SNV T504M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 236269 chr15 80263051 80263051 G A rs147879852 BCL2A1 Synonymous SNV N137N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.556 236270 chr13 115047195 115047195 G A UPF3A Synonymous SNV S27S 0 0 0 2 0 0 0.005 0 0 0 0 0 12.53 236271 chr15 82422872 82422872 T C rs756494164 EFL1 Nonsynonymous SNV T1018A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.8 236272 chr13 21165140 21165140 C G rs758439682 IFT88 Nonsynonymous SNV P63R 0 0 0.003 4 0 0 0.01 1 0 0 0 0 17.22 236273 chr5 160076224 160076224 C T rs751050963 ATP10B Nonsynonymous SNV V211M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 236274 chr13 23906691 23906691 C G SACS Nonsynonymous SNV S3628T 0 0 0 3 0 0 0.008 0 0 0 0 0 23.3 236275 chr10 72326394 72326394 - T PALD1 Frameshift insertion E826Vfs*66 0 0 0 1 0 0 0.003 0 0 0 0 0 236276 chr15 86312804 86312804 G A rs199550414 KLHL25 Nonsynonymous SNV R80W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 28.3 236277 chr5 171303477 171303477 A G rs10052973 FBXW11 Synonymous SNV L290L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.488 236278 chr1 63789275 63789275 C T rs370359586 FOXD3 Synonymous SNV F182F 0.003 0 0 0 3 0 0 0 0 0 0 0 18.05 236279 chr5 176295234 176295234 G A rs761492284 UNC5A Synonymous SNV S132S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 236280 chr13 33111070 33111070 G A rs187538494 N4BP2L2 Nonsynonymous SNV S32L 0 0 0 3 0 0 0.008 0 0 0 0 0 0.086 236281 chr1 155247583 155247583 C T rs931272117 HCN3 Nonsynonymous SNV H68Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 236282 chr10 75567372 75567372 G C rs553139353 NDST2 Nonsynonymous SNV R259G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.4 236283 chr13 36700176 36700176 C G rs754667282 DCLK1 Synonymous SNV P33P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.96 236284 chr5 177651480 177651480 A C rs772711899 PHYKPL Nonsynonymous SNV V155G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.3 236285 chr1 6662570 6662570 C A rs764228027 KLHL21 Nonsynonymous SNV G103V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.16 236286 chr10 95093661 95093661 G A rs201634420 MYOF Nonsynonymous SNV R1512W 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Likely benign 26.9 236287 chr19 56701280 56701280 T C rs772921867 ZSCAN5B Synonymous SNV K468K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.034 236288 chr6 35438350 35438350 C T rs187631484 MIR7111 0 0 0 1 0 0 0.003 0 0 0 0 0 5.039 236289 chr19 57166522 57166522 G T rs554436759 SMIM17 Nonsynonymous SNV V100L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 236290 chr1 158262133 158262133 G A CD1C Synonymous SNV G196G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.485 236291 chr1 158517823 158517823 G A rs765815161 OR6Y1 Stop gain R25X 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 236292 chr5 32053922 32053922 G A rs10940998 PDZD2 Synonymous SNV Q611Q 0.001 0.005 0.01 0 1 2 0 3 0 0 0 0 9.036 236293 chr19 58152703 58152703 G A rs555827295 ZNF211 Synonymous SNV R222R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.02 236294 chr13 77651500 77651500 A G rs560162668 MYCBP2 Nonsynonymous SNV I3836T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 18.83 236295 chr6 43100374 43100374 G A rs114969849 PTK7 Nonsynonymous SNV A401T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 33 236296 chr1 159170735 159170735 C T rs754717989 CADM3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 13.42 236297 chr10 98144369 98144369 G A rs142069970 TLL2 Synonymous SNV R723R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 236298 chr6 44279918 44279918 A T AARS2 Nonsynonymous SNV V109E 0 0 0 1 0 0 0.003 0 0 0 0 0 31 236299 chr10 99473695 99473695 G C rs187491162 MARVELD1 Nonsynonymous SNV R21P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 236300 chr14 102498769 102498769 C T DYNC1H1 Synonymous SNV I3348I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.37 236301 chr1 92979403 92979403 T C rs201450382 EVI5 Nonsynonymous SNV N748S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 2.093 236302 chr16 2025083 2025083 G A TBL3 Nonsynonymous SNV G207S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.6 236303 chr6 57012986 57012986 T G rs111264601 ZNF451 Synonymous SNV T701T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.521 236304 chr5 67588186 67588186 C T PIK3R1 Nonsynonymous SNV S69L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 236305 chr11 1024065 1024065 G A rs370450681 MUC6 Synonymous SNV D1088D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.357 236306 chr6 78173013 78173013 C T rs146099882 HTR1B Synonymous SNV K36K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.84 236307 chr16 2983910 2983910 C G FLYWCH1 Synonymous SNV P481P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.62 236308 chr11 104820442 104820442 T C rs200347004 CASP4 Synonymous SNV T203T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 236309 chr20 20023121 20023121 G A rs577483196 CRNKL1 Nonsynonymous SNV R338C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 236310 chr5 74807027 74807027 C T rs138699646 CERT1 Synonymous SNV S2S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.4 236311 chr20 23029962 23029962 C T THBD Nonsynonymous SNV M60I 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 236312 chr16 30764586 30764586 A G rs149163610 PHKG2 Synonymous SNV T120T 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.917 236313 chr14 21798479 21798479 C T rs201838837 RPGRIP1 Synonymous SNV H1057H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.703 236314 chr11 111779583 111779583 C T rs781852612 CRYAB Nonsynonymous SNV V78M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 236315 chr6 105821363 105821363 T C rs188426588 PREP Nonsynonymous SNV D159G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 236316 chr6 106967584 106967584 C G rs145099379 CRYBG1 Nonsynonymous SNV T426R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.743 236317 chr5 79646933 79646933 G T rs35606070 CRSP8P 0 0 0.017 0 0 0 0 5 0 0 1 0 2.968 236318 chr16 31508213 31508213 C T rs368993746 C16orf58 Nonsynonymous SNV R220Q 0.006 0.005 0 1 7 2 0.003 0 0 0 0 0 24.7 236319 chr14 23885010 23885010 C T rs370328209 MYH7 Nonsynonymous SNV R1662H 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 20.3 236320 chr6 111587079 111587079 G T rs200070624 MFSD4B Nonsynonymous SNV G105V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 236321 chr1 186901984 186901984 A T rs778448553 PLA2G4A Synonymous SNV G156G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.388 236322 chr11 117052799 117052799 A G rs145158897 SIDT2 Nonsynonymous SNV N165S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.228 236323 chr16 3533474 3533474 A G NAA60 Nonsynonymous SNV Y85C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.8 236324 chr11 117712732 117712732 C G rs140774309 FXYD6, FXYD6-FXYD2 Nonsynonymous SNV E24Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 236325 chr11 118261438 118261438 A G rs142299294 UBE4A Synonymous SNV A945A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 8.837 236326 chr6 107390076 107390076 G A rs782444942 BEND3 Synonymous SNV D773D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.2 236327 chr11 119045631 119045631 G A rs147565919 NLRX1 Nonsynonymous SNV R440H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 236328 chr11 119053932 119053932 G A rs144763958 NLRX1 Synonymous SNV T904T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.842 236329 chr6 114379268 114379268 C T rs373398789 HS3ST5 Nonsynonymous SNV R65H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 236330 chr1 1139130 1139130 G A TNFRSF18 Synonymous SNV A203A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.487 236331 chr20 44567696 44567696 C T PCIF1 Nonsynonymous SNV P20S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21 236332 chr6 13327077 13327077 C A TBC1D7, TBC1D7-LOC100130357 Synonymous SNV G18G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.55 236333 chr6 139094447 139094465 GGTCGCTGAACAGAATCAC - rs143411071 GVQW2 0 0 0.007 0 0 0 0 2 0 0 0 0 236334 chr6 144207881 144207881 G A ZC2HC1B Nonsynonymous SNV R91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 236335 chr1 208205081 208205081 G A rs767094642 PLXNA2 Synonymous SNV D1693D 0 0.005 0.003 0 0 2 0 1 0 0 0 0 5.908 236336 chr1 12025561 12025561 C T rs149124387 PLOD1 Nonsynonymous SNV R499W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.5 236337 chr14 68108942 68108942 C T ARG2 Nonsynonymous SNV P75L 0 0 0 3 0 0 0.008 0 0 0 0 0 21.9 236338 chr1 12061483 12061483 G C rs147136530 MFN2 Nonsynonymous SNV C281S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 236339 chr14 68331504 68331504 G A RAD51B 0 0 0 2 0 0 0.005 0 0 0 0 0 1.841 236340 chr1 12309344 12309344 C G rs767410275 VPS13D Nonsynonymous SNV A171G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 236341 chr11 129812450 129812450 C T rs145098486 PRDM10 Synonymous SNV T193T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.046 236342 chr16 72829786 72829786 A G ZFHX3 Synonymous SNV A1351A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.194 236343 chr6 151673522 151673522 C T rs142473808 AKAP12 Synonymous SNV P1227P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 236344 chr1 212900502 212900502 - AG rs764386110 NSL1 Stop gain A174* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236345 chr6 152457837 152457837 C T rs776288515 SYNE1 Synonymous SNV S703S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.17 236346 chr6 170002384 170002384 G A rs111265134 WDR27 Synonymous SNV R594R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.059 236347 chr6 170116174 170116174 T C PHF10 Synonymous SNV A140A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.252 236348 chr20 60909375 60909375 G A rs777718683 LAMA5 Nonsynonymous SNV P869L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 236349 chr16 57775719 57775719 A G rs781861902 KATNB1 Nonsynonymous SNV N54S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 236350 chr6 161021963 161021963 G T rs781099520 LPA Nonsynonymous SNV A1038D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.355 236351 chr7 4830898 4830898 C G rs757790495 AP5Z1 Nonsynonymous SNV T613R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 236352 chr1 223947130 223947130 C T rs201955876 CAPN2 Synonymous SNV N414N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 236353 chr11 22296135 22296135 G A rs144048656 ANO5 Synonymous SNV T751T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.99 236354 chr6 22287729 22287729 A G rs774305153 PRL Nonsynonymous SNV Y196H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 236355 chr20 62703286 62703286 C T rs542069801 TCEA2 Nonsynonymous SNV R295C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 236356 chr6 24583881 24583881 G A rs200254558 KIAA0319 Synonymous SNV P303P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 236357 chr16 71784207 71784207 A G AP1G1 Nonsynonymous SNV V438A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 236358 chr16 72821598 72821618 CCGCCGCCGCCGCCGCCGCCA - rs781609559 ZFHX3 G2607_G2613del 0 0 0 1 0 0 0.003 0 0 0 0 0 236359 chr1 228538597 228538597 C T rs377306477 OBSCN Synonymous SNV D6124D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.03 236360 chr1 228559075 228559075 C T rs751265264 OBSCN Nonsynonymous SNV R6866W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 236361 chr1 228560779 228560779 G A rs199507775 OBSCN Nonsynonymous SNV E7434K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 236362 chr15 23811486 23811486 A G MKRN3 Nonsynonymous SNV N186S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.002 236363 chr11 36596726 36596726 T A RAG1 Synonymous SNV R624R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 236364 chr21 34721474 34721474 C T rs141681155 IFNAR1 Nonsynonymous SNV T289I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 236365 chr15 34130548 34130548 G A rs114374205 RYR3 Nonsynonymous SNV V4118M 0 0 0 3 0 0 0.008 0 0 0 0 0 0.007 236366 chr21 35468700 35468700 C T rs535716171 SLC5A3 Synonymous SNV S401S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 10.03 236367 chr11 47460447 47460447 G A rs376829572 RAPSN Synonymous SNV S275S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 236368 chr15 40920815 40920815 G A rs201880719 KNL1 Nonsynonymous SNV R1841H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 12.42 236369 chr21 42823125 42823125 G A rs548016085 MX1 Synonymous SNV S488S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.859 236370 chr7 44556928 44556928 G T rs531074780 NPC1L1 Synonymous SNV P1055P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.933 236371 chr1 241755439 241755439 A G rs149872365 KMO Nonsynonymous SNV N482S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 236372 chr21 43557617 43557617 G A rs757886870 UMODL1 Nonsynonymous SNV V1338M 0.003 0 0 0 3 0 0 0 0 0 0 0 19.08 236373 chr6 42797661 42797661 G A rs371702663 BICRAL Synonymous SNV S530S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.946 236374 chr7 50198732 50198732 C T SPATA48 Synonymous SNV F428F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.434 236375 chr7 50513946 50513946 T C FIGNL1 Nonsynonymous SNV Q347R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.867 236376 chr11 12278434 12278434 C G MICAL2 Nonsynonymous SNV H773D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 236377 chr7 65546939 65546939 C T rs140221164 ASL Synonymous SNV L54L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 14.51 236378 chr17 1538361 1538361 G C rs777343516 SCARF1 Nonsynonymous SNV I728M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.4 236379 chr11 5153821 5153821 C T rs145258281 OR52A5 Nonsynonymous SNV G18R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 236380 chr7 82581852 82581854 TAA - PCLO Y2806del 0 0 0 1 0 0 0.003 0 0 0 0 0 236381 chr7 82581856 82581856 - G PCLO Frameshift insertion S2805Qfs*29 0 0 0 1 0 0 0.003 0 0 0 0 0 236382 chr7 82581858 82581858 - CA PCLO Frameshift insertion A2804Vfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 236383 chr7 87473077 87473077 A G SLC25A40 Nonsynonymous SNV S245P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 236384 chr22 19754255 19754255 T C rs367711718 TBX1 Synonymous SNV H451H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 0.006 236385 chr7 97862147 97862147 C T rs756769793 TECPR1 Nonsynonymous SNV V604M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 236386 chr1 27632864 27632864 G A rs756128356 WDTC1 Nonsynonymous SNV R675Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 236387 chr7 99631181 99631181 G A rs151037516 ZKSCAN1 Synonymous SNV G138G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.998 236388 chr22 24108451 24108451 G A rs773772416 CHCHD10 Synonymous SNV P98P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.326 236389 chr22 30518024 30518024 G A HORMAD2 Nonsynonymous SNV E126K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 236390 chr1 3703491 3703491 C T rs780560893 LRRC47 Synonymous SNV R333R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.94 236391 chr1 198671621 198671621 C A rs527641821 PTPRC Nonsynonymous SNV A182E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 236392 chr1 39893675 39893675 C G rs191687628 MACF1 Nonsynonymous SNV Q3445E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.23 236393 chr1 201178957 201178957 A G IGFN1 Nonsynonymous SNV K1646E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 236394 chr1 20249135 20249135 G A PLA2G2E Nonsynonymous SNV H52Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 236395 chr7 107749644 107749644 C T rs759831307 LAMB4 Nonsynonymous SNV R125Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.25 236396 chr7 100648051 100648051 C T rs749821689 MUC12 Nonsynonymous SNV A4736V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.46 236397 chr22 40755022 40755022 G A ADSL Nonsynonymous SNV E213K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 236398 chr11 58949243 58949243 C T rs370390470 DTX4 Synonymous SNV Y81Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.853 236399 chr7 111958290 111958290 C T rs533665192 ZNF277 Synonymous SNV G173G 0 0 0 1 0 0 0.003 0 0 0 0 0 19 236400 chr17 15903221 15903221 G A TTC19 Nonsynonymous SNV R20Q 0 0 0 2 0 0 0.005 0 0 0 0 0 19.46 236401 chr17 17061761 17061761 A G MPRIP Synonymous SNV E647E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.814 236402 chr7 101266291 101266291 G C rs144539367 MYL10 Nonsynonymous SNV T112S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 236403 chr17 17797007 17797007 T C rs767575657 TOM1L2 Nonsynonymous SNV I112V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14 236404 chr17 18137328 18137328 G A rs115399906 LLGL1 Nonsynonymous SNV V185M 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 19.03 236405 chr11 60235786 60235786 G A rs747237808 MS4A1 Nonsynonymous SNV V247I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.14 236406 chr17 18881523 18881523 C T rs150972768 FAM83G Nonsynonymous SNV G486S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.006 236407 chr11 60635063 60635063 G T ZP1 Nonsynonymous SNV G10V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.624 236408 chr1 54554343 54554343 G C rs751194630 TCEANC2 Nonsynonymous SNV E106D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.665 236409 chr1 54690866 54690866 C T rs148857454 MRPL37 Synonymous SNV D421D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.771 236410 chr7 107626740 107626740 T G rs759586137 LAMB1 Nonsynonymous SNV R164S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 236411 chr7 107703279 107703279 G T rs148368044 LAMB4 Synonymous SNV G1074G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.563 236412 chr7 129691085 129691085 G A ZC3HC1 Nonsynonymous SNV P5S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 236413 chr1 55277794 55277794 C T rs778325351 LEXM Nonsynonymous SNV R232C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 236414 chr1 214557189 214557189 G A rs143968043 PTPN14 Nonsynonymous SNV T670M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.6 236415 chr11 61665796 61665796 T C rs150700132 RAB3IL1 Nonsynonymous SNV K342R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.18 236416 chr11 62066438 62066438 G C rs552294907 SCGB1D4 Nonsynonymous SNV C15W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 236417 chr22 50588062 50588062 C T rs151046863 MOV10L1 Synonymous SNV H9H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.79 236418 chr7 128446906 128446906 T A rs756351863 CCDC136 Nonsynonymous SNV N471K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 236419 chr17 27240155 27240155 G C PHF12 Synonymous SNV T478T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.592 236420 chr17 28548798 28548798 C T rs748936504 SLC6A4 Nonsynonymous SNV R60Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.502 236421 chr11 62603451 62603451 C T WDR74 Synonymous SNV K117K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.988 236422 chr11 60565968 60565968 C A rs200806408 MS4A10 Nonsynonymous SNV Q235K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.84 236423 chr16 1823279 1823279 - CGGGGA rs763978801 EME2 G21_G22insRG 0 0 0 2 0 0 0.005 0 0 0 0 0 236424 chr17 56386722 56386722 C T rs142234067 TSPOAP1 Nonsynonymous SNV C1244Y 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Likely benign 20.3 236425 chr16 19867829 19867829 G A rs761503397 IQCK Nonsynonymous SNV D187N 0 0 0 3 0 0 0.008 0 0 0 0 0 21.3 236426 chr7 140069468 140069468 G C SLC37A3 Nonsynonymous SNV N71K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 236427 chr7 140156549 140156549 G T MKRN1 Nonsynonymous SNV R297S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 236428 chr11 63398600 63398600 A G rs773136140 ATL3 Nonsynonymous SNV L466P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Uncertain significance 27.6 236429 chr7 151127194 151127194 C T rs113286563 CRYGN Synonymous SNV P163P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 236430 chr7 151849981 151849981 C A rs780029434 KMT2C Nonsynonymous SNV S4112I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 34 236431 chr7 154735799 154735799 G T rs186131982 PAXIP1-AS2 0 0 0 1 0 0 0.003 0 0 0 0 0 6.422 236432 chr7 157449123 157449123 G A rs1047290785 PTPRN2 Nonsynonymous SNV R670C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 236433 chr2 120723144 120723144 G A rs746299442 PTPN4 Synonymous SNV S827S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 236434 chr11 66008922 66008922 C T rs142615271 PACS1 Synonymous SNV D818D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.16 236435 chr11 66238791 66238791 C T rs752411611 PELI3 Synonymous SNV N77N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 236436 chr8 2005571 2005571 C T rs142361368 MYOM2 Synonymous SNV R123R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.324 236437 chr16 28842344 28842344 G A rs766756824 ATXN2L Synonymous SNV S424S 0 0 0 3 0 0 0.008 0 0 0 0 0 13.43 236438 chr2 128393453 128393453 C T rs181858311 MYO7B Nonsynonymous SNV R1967C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 236439 chr8 8176165 8176165 C A PRAG1 Synonymous SNV V1240V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.13 236440 chr7 151849914 151849914 C T rs766473977 KMT2C Synonymous SNV P4134P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 236441 chr8 8234945 8234945 G A rs770135113 PRAG1 Nonsynonymous SNV P325L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 236442 chr2 135625288 135625288 T C rs752537884 CCNT2-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.172 236443 chr1 92709910 92709910 A G rs769658360 C1orf146 Synonymous SNV E99E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.937 236444 chr11 65983613 65983613 C T rs548594376 PACS1 Synonymous SNV G228G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 16.01 236445 chr11 68835023 68835023 A G rs148467810 TPCN2 Nonsynonymous SNV E260G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 236446 chr17 43333270 43333270 C T rs766233960 SPATA32 Synonymous SNV S93S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 10.81 236447 chr8 15601046 15601046 G T TUSC3 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 236448 chr8 17067922 17067922 A G rs2904682 ZDHHC2 Nonsynonymous SNV T250A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 236449 chr11 71208647 71208647 C - NADSYN1 P629Rfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 236450 chr7 23387327 23387327 G A rs202212306 IGF2BP3 Nonsynonymous SNV A237V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 236451 chr17 73752903 73752903 C T rs777825472 ITGB4 Synonymous SNV V1655V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.96 236452 chr11 76506912 76506912 G A TSKU Synonymous SNV T84T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.182 236453 chr7 31117646 31117646 C T rs7804302 ADCYAP1R1 Synonymous SNV P66P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.98 236454 chr7 35707128 35707128 G T rs759056775 HERPUD2 Nonsynonymous SNV S137Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 236455 chr16 56660410 56660410 T A rs138690474 MT1E Nonsynonymous SNV C21S 0 0 0 3 0 0 0.008 0 0 0 0 0 23.3 236456 chr8 27294657 27294657 G T PTK2B Nonsynonymous SNV V454L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 236457 chr11 85342774 85342774 C T rs143403924 TMEM126B Nonsynonymous SNV S42F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.083 236458 chr7 45222793 45222793 G A rs149640539 RAMP3 Nonsynonymous SNV A77T 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.835 236459 chr8 39781009 39781009 G C IDO1 Nonsynonymous SNV A187P 0 0 0 1 0 0 0.003 0 0 0 0 0 24 236460 chr8 39782754 39782754 C T rs778828448 IDO1 Synonymous SNV N240N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.37 236461 chr7 47897385 47897385 G A rs199549399 PKD1L1 Nonsynonymous SNV R1470W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.55 236462 chr12 102046518 102046518 C T MYBPC1 Nonsynonymous SNV P479L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 236463 chr8 100779104 100779104 G A VPS13B Nonsynonymous SNV D2410N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 236464 chr8 104342243 104342243 C T rs768646873 FZD6 Synonymous SNV D329D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 236465 chr8 110476631 110476631 G C rs747359745 PKHD1L1 Nonsynonymous SNV G2524R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 236466 chr7 8267294 8267294 C T rs748769685 ICA1 Nonsynonymous SNV R3H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.696 236467 chr11 121000804 121000804 G A rs774867371 TECTA Nonsynonymous SNV R942H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 236468 chr17 76472719 76472719 C T rs181398151 DNAH17 Nonsynonymous SNV V2697I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.65 236469 chr16 846012 846012 C T rs114461038 CHTF18 Synonymous SNV L797L 0 0 0 5 0 0 0.013 0 0 0 0 0 Benign 11.91 236470 chr17 77758268 77758268 C T rs782120588 CBX2 Synonymous SNV G342G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.803 236471 chr16 87339489 87339489 G A C16orf95 Nonsynonymous SNV A118V 0 0 0 3 0 0 0.008 0 0 0 0 0 15.44 236472 chr7 97821008 97821008 C T rs561329062 LMTK2 Nonsynonymous SNV R411W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 236473 chr2 215645882 215645882 A T rs200359745 BARD1 Nonsynonymous SNV L220Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 236474 chr20 60884483 60884483 C T rs77172131 LAMA5 Nonsynonymous SNV R3666K 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 Benign 18.59 236475 chr8 10690474 10690474 T C rs189959562 PINX1 Synonymous SNV Q50Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.535 236476 chr20 60912714 60912714 C T rs761703934 LAMA5 Nonsynonymous SNV R699Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 236477 chr17 80115642 80115642 G A CCDC57 Synonymous SNV A249A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.996 236478 chr8 110503229 110503229 G C rs373637495 PKHD1L1 Nonsynonymous SNV R3338P 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 236479 chr8 113933928 113933928 C A rs140758499 CSMD3 Nonsynonymous SNV A391S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.94 236480 chr20 61050086 61050086 C G rs111633561 GATA5 Synonymous SNV L164L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.93 236481 chr8 11412860 11412860 C T rs779263158 BLK Synonymous SNV C142C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.403 236482 chr16 89813015 89813015 G A FANCA Nonsynonymous SNV P1164S 0 0 0 3 0 0 0.008 0 0 0 0 0 24.4 236483 chr12 124911179 124911179 G A rs374569179 NCOR2 Synonymous SNV T438T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 236484 chr18 3149196 3149196 C T rs183893490 MYOM1 Nonsynonymous SNV R616H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.23 236485 chr12 129822360 129822360 G A TMEM132D Nonsynonymous SNV A373V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 236486 chr12 132625543 132625543 G A rs368940949 DDX51 Synonymous SNV L425L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.376 236487 chr8 133837554 133837554 A G rs202207817 PHF20L1 Nonsynonymous SNV K535R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.189 236488 chr12 7045903 7045903 - CAGCAG ATN1 Q502_H503insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 236489 chr2 231941862 231941862 C T rs140570911 PSMD1 Synonymous SNV L353L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.47 236490 chr1 876556 876556 G A SAMD11 Nonsynonymous SNV A247T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.14 236491 chr21 30380587 30380587 C T rs145317909 RWDD2B Synonymous SNV P112P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.56 236492 chr18 24497023 24497023 G A rs778268195 CHST9 Stop gain R178X 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 38 236493 chr9 22008744 22008744 C T rs368328782 CDKN2B Nonsynonymous SNV R70Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.98 236494 chr2 235950705 235950705 A G rs201491979 SH3BP4 Nonsynonymous SNV N431S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 236495 chr8 145106695 145106695 G A rs373169020 OPLAH Synonymous SNV L1219L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 2.89 236496 chr9 32481422 32481422 T C rs550979992 DDX58 Synonymous SNV K518K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.027 236497 chr2 238303649 238303649 C T rs201249839 COL6A3 Nonsynonymous SNV R97H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.67 236498 chr8 145163591 145163591 C T rs751675817 WDR97 Nonsynonymous SNV L208F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 236499 chr8 145166898 145166898 C G rs566971224 WDR97 Nonsynonymous SNV R916G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.51 236500 chr17 2232741 2232741 C T rs190016032 TSR1 Nonsynonymous SNV R600H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 32 236501 chr8 145246734 145246734 C T rs371731460 MROH1 Synonymous SNV H277H 0 0 0.007 0 0 0 0 2 0 0 0 0 9.048 236502 chr9 34990774 34990774 T G rs762294145 DNAJB5 Synonymous SNV L49L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 3.138 236503 chr12 42717844 42717844 G - ZCRB1 Stop gain L21* 0 0 0 1 0 0 0.003 0 0 0 0 0 236504 chr9 37126417 37126417 G A rs769206290 ZCCHC7 Nonsynonymous SNV E30K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 236505 chr1 9795967 9795967 G A rs543279640 CLSTN1 Synonymous SNV L551L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.932 236506 chr12 46757510 46757510 G A rs144317440 SLC38A2 Synonymous SNV Y251Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.642 236507 chr12 4677163 4677163 T A rs572869549 DYRK4 Synonymous SNV T27T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.074 236508 chr9 38413247 38413247 G A rs199933591 IGFBPL1 Nonsynonymous SNV T225M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 236509 chr2 241888456 241888456 G T CROCC2 Synonymous SNV L808L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.221 236510 chr20 13273099 13273099 T C rs748810536 ISM1 Nonsynonymous SNV L289P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.9 236511 chr19 11470366 11470366 C T rs779235701 PLPPR2 Synonymous SNV Y50Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.011 236512 chr17 30815128 30815128 T A CDK5R1 Nonsynonymous SNV Y164N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 236513 chr9 78936357 78936357 G A rs200790987 PCSK5 Nonsynonymous SNV G1275S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.554 236514 chr12 50367335 50367335 C T rs139985595 AQP6 Stop gain R127X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 236515 chr21 47404305 47404305 T C rs138899581 COL6A1 Nonsynonymous SNV V117A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.35 236516 chr2 27462631 27462631 C T rs947537947 CAD Nonsynonymous SNV P1758S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.536 236517 chr9 96847041 96847041 G A rs368281877 PTPDC1 Nonsynonymous SNV E77K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 236518 chr19 15271785 15271785 G A rs528209250 NOTCH3 Synonymous SNV G2218G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Benign 11.03 236519 chr8 27362526 27362526 G A EPHX2 Nonsynonymous SNV D68N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.599 236520 chr1 74506926 74506926 C A rs202192042 LRRIQ3 Nonsynonymous SNV K563N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 236521 chr8 28384825 28384825 G A rs755633908 FZD3 Nonsynonymous SNV R183H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 236522 chr9 100447310 100447310 A C rs555812588 XPA Nonsynonymous SNV S190A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.853 236523 chr20 2819008 2819008 A G rs760457622 PCED1A Synonymous SNV H186H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.769 236524 chr17 39305732 39305746 GCAGCAGGTGGTCCT - rs756068707 KRTAP4-5 R92_C96del 0.003 0 0 2 3 0 0.005 0 0 0 0 0 236525 chr9 108510418 108510418 A G rs775922310 TMEM38B Nonsynonymous SNV I203V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.668 236526 chr22 24106827 24106827 G A rs566868267 C22orf15 Nonsynonymous SNV R86K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.871 236527 chr8 62577831 62577831 A G rs149774162 ASPH Synonymous SNV N204N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.82 236528 chr22 24621319 24621319 C T rs1026801373 GGT5 Nonsynonymous SNV R390H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 236529 chr12 56334435 56334435 G A rs776782356 DGKA Nonsynonymous SNV G316S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.98 236530 chr17 40123938 40123938 G C rs199706471 CNP Nonsynonymous SNV K215N 0 0 0 3 0 0 0.008 0 0 0 0 0 23.9 236531 chr9 117848441 117848441 G A rs776360535 TNC Synonymous SNV T523T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.111 236532 chr9 119460921 119460921 A G rs756141939 TRIM32 Synonymous SNV T300T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 236533 chr8 8559962 8559962 C T rs749617569 CLDN23 Synonymous SNV L18L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 236534 chr19 4501328 4501328 G A rs200105993 HDGFL2 Nonsynonymous SNV D639N 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.1 236535 chr8 90983432 90983432 C T rs199845467 NBN Nonsynonymous SNV G224E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 236536 chr2 73429876 73429876 C G rs199642782 NOTO Nonsynonymous SNV P28A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.069 236537 chr12 6749670 6749670 G A rs761778569 ACRBP Nonsynonymous SNV R366W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 236538 chr12 69980082 69980082 T C rs111309939 CCT2 Synonymous SNV F12F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.517 236539 chr19 24116677 24116677 C A ZNF726 Nonsynonymous SNV H587N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 236540 chr9 102713445 102713445 C T rs141654021 STX17 Nonsynonymous SNV A98V 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 21.9 236541 chr20 57769295 57769295 G A rs200337383 ZNF831 Nonsynonymous SNV R1074H 0.003 0 0 0 4 0 0 0 0 0 0 0 8.924 236542 chr9 131476892 131476892 C A rs369666203 PKN3 Synonymous SNV P511P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 236543 chr20 60892782 60892782 T G rs76350903 LAMA5 Nonsynonymous SNV H2431P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.851 236544 chr9 131864767 131864767 C T rs768159322 CRAT Nonsynonymous SNV R181Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.6 236545 chr20 60899224 60899224 G A rs141989486 LAMA5 Nonsynonymous SNV R1894C 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 27 236546 chr12 77158103 77158103 C G rs754913402 ZDHHC17 Nonsynonymous SNV H19Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 236547 chr12 77423685 77423685 C G E2F7 Nonsynonymous SNV E604Q 0 0 0 4 0 0 0.01 0 0 0 0 0 9.138 236548 chr9 134503415 134503415 C T rs371503343 RAPGEF1 Synonymous SNV S362S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 236549 chr22 44373767 44373767 A G SAMM50 Nonsynonymous SNV T289A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.81 236550 chr19 36223017 36223017 T C KMT2B Synonymous SNV F1882F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.07 236551 chr9 137809712 137809712 C T FCN1 Synonymous SNV E2E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.549 236552 chr19 36595687 36595687 G A rs771131709 WDR62 Synonymous SNV Q1443Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 0.099 236553 chr12 99065417 99065417 G A rs755872148 APAF1 Synonymous SNV P560P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.06 236554 chr12 100796473 100796473 - TGG rs769092356 SLC17A8 I335delinsMV 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236555 chr9 127990237 127990237 C G rs369057277 RABEPK Nonsynonymous SNV P141R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 236556 chr17 61898941 61898941 C T rs779699383 FTSJ3 Synonymous SNV L553L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.117 236557 chr13 113735583 113735583 G A MCF2L Nonsynonymous SNV C584Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 236558 chr9 131418853 131418853 C T rs766499526 WDR34 Synonymous SNV Q51Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 236559 chr20 50407897 50407897 G A rs781154947 SALL4 Synonymous SNV D375D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 236560 chr17 66391264 66391264 C T ARSG Nonsynonymous SNV P365L 0 0 0 2 0 0 0.005 0 0 0 0 0 24 236561 chr10 3201124 3201124 T A rs202029537 PITRM1 Nonsynonymous SNV D341V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 32 236562 chr17 67092428 67092428 G A rs763645493 ABCA6 Nonsynonymous SNV R1121C 0 0 0 2 0 0 0.005 0 0 0 0 0 24 236563 chr2 110065725 110065725 G T SH3RF3 Nonsynonymous SNV R643M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 236564 chr19 12939482 12939482 G A rs758865500 RTBDN Synonymous SNV L118L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.93 236565 chr9 136029280 136029280 C T rs143563851 GBGT1 Nonsynonymous SNV R226H 0.002 0 0.017 1 2 0 0.003 5 0 0 0 0 33 236566 chr9 136509351 136509351 C T rs3025400 DBH Synonymous SNV Y311Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.454 236567 chr9 136536757 136536757 C T rs143904989 SARDH Synonymous SNV A742A 0 0 0.014 1 0 0 0.003 4 0 0 0 0 Likely benign 14.17 236568 chr2 120194746 120194746 C T rs376824861 TMEM37 Synonymous SNV A101A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.66 236569 chr13 39433503 39433503 G A rs746001237 FREM2 Nonsynonymous SNV R2432Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.623 236570 chr19 15375528 15375528 A C rs202135404 BRD4 Nonsynonymous SNV I300S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 17.67 236571 chr19 15648718 15648718 C A rs772155840 CYP4F22 Synonymous SNV V195V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.17 236572 chr9 139286448 139286448 C T rs746122865 SNAPC4 Synonymous SNV A307A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 236573 chr9 139368934 139368934 G A rs771965714 SEC16A Nonsynonymous SNV T1045M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.459 236574 chr3 132390995 132390995 T C UBA5 Synonymous SNV A172A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.703 236575 chr13 45147968 45147968 T C rs756814793 TSC22D1 Nonsynonymous SNV Q748R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 236576 chr9 139904459 139904459 C G rs772474988 ABCA2 Synonymous SNV G2157G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 236577 chr20 62193479 62193479 C T HELZ2 Nonsynonymous SNV V1590M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.484 236578 chr9 140083567 140083567 G A rs201244865 SSNA1 Synonymous SNV Q34Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 236579 chr9 140120486 140120486 G A rs1035626294 CYSRT1 Nonsynonymous SNV C138Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 236580 chr19 17369154 17369154 G A rs377574461 USHBP1 Nonsynonymous SNV R299W 0 0.005 0 1 0 2 0.003 0 0 0 0 0 14.17 236581 chr17 76445558 76445558 A G rs748553565 DNAH17 Nonsynonymous SNV Y3717H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.5 236582 chr9 32541418 32541418 T C TOPORS Synonymous SNV S970S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.848 236583 chr14 100364627 100364627 G A rs369951654 EML1 Synonymous SNV S295S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 236584 chr3 155200264 155200264 G A rs768535202 PLCH1 Nonsynonymous SNV P1184L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.79 236585 chr19 21132074 21132074 C T ZNF85 Nonsynonymous SNV H188Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.23 236586 chr17 76851923 76851923 C T rs749621400 TIMP2 Synonymous SNV P163P 0 0 0 3 0 0 0.008 0 0 0 0 0 8.67 236587 chr19 21133087 21133087 C T rs531362574 ZNF85 Synonymous SNV T525T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.903 236588 chr17 77081713 77081713 T G rs775258028 ENGASE Nonsynonymous SNV V571G 0 0 0 3 0 0 0.008 0 0 0 0 0 24.5 236589 chr10 50820381 50820381 G A rs374783600 SLC18A3 Nonsynonymous SNV S532N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 236590 chr3 16216696 16216696 G C rs1036841132 GALNT15 Nonsynonymous SNV R13T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 236591 chr17 77808466 77808466 G C CBX4 Synonymous SNV P325P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 1.654 236592 chr10 61905734 61905734 G A rs753914355 ANK3 Nonsynonymous SNV T870M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.57 236593 chr9 71628388 71628392 GGCCA - PRKACG L206Pfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 236594 chr2 172604339 172604339 A T rs369898794 DYNC1I2 Synonymous SNV A611A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.58 236595 chr14 105352958 105352958 C T rs201937375 CEP170B Synonymous SNV P724P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.892 236596 chr17 79516337 79516337 C T FAAP100 Nonsynonymous SNV S433N 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.151 236597 chr3 183439891 183439891 C T rs148763192 YEATS2 Synonymous SNV N168N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.898 236598 chr9 78973444 78973444 G A rs141281372 PCSK5 Nonsynonymous SNV R1730Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.899 236599 chr22 31301902 31301902 C A OSBP2 Synonymous SNV T362T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.93 236600 chr3 184005662 184005662 C T rs200653424 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV T405M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 236601 chr19 36368708 36368708 G C rs373063120 APLP1 Nonsynonymous SNV Q511H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 236602 chr14 21623970 21623970 G T rs202234533 OR5AU1 Nonsynonymous SNV P21H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 236603 chr2 186664503 186664503 C T rs200741240 FSIP2 Synonymous SNV Y3490Y 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 4.126 236604 chr9 96021700 96021700 C T rs780336076 WNK2 Nonsynonymous SNV P957L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 236605 chr9 97572244 97572244 G A rs356125 MIR2278 0 0 0.024 0 0 0 0 7 0 0 0 0 0.558 236606 chr9 98268864 98268864 C G PTCH1 Synonymous SNV R73R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 236607 chr14 23344857 23344857 G A rs371755191 LRP10 Nonsynonymous SNV V234M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 236608 chr9 990904 990904 G A rs375561407 DMRT3 Nonsynonymous SNV D440N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 236609 chr17 9763353 9763353 C T rs145296340 GLP2R Nonsynonymous SNV T287M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.9 236610 chr14 23420782 23420782 T C rs45600640 HAUS4 Synonymous SNV E149E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.222 236611 chrX 103294658 103294658 C T rs782059704 H2BW2 Stop gain R39X 0.001 0 0.007 0 1 0 0 2 0 0 1 0 25.3 236612 chrX 103294712 103294712 G A rs782618057 H2BW2 Nonsynonymous SNV G57R 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.003 236613 chr10 91465059 91465059 C A KIF20B Nonsynonymous SNV S3Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 236614 chrX 107430367 107430367 T C COL4A6 Nonsynonymous SNV K637R 0 0 0.007 0 0 0 0 2 0 0 1 0 0.034 236615 chr14 24033254 24033254 C T rs76134284 AP1G2 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 236616 chr2 191301679 191301679 C T rs748158792 MFSD6 Synonymous SNV I308I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.21 236617 chr13 99947547 99947547 A C rs766105400 GPR183 Nonsynonymous SNV S285A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.027 236618 chr3 195460047 195460047 G A rs776579696 MUC20 Synonymous SNV A696A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.07 236619 chr22 17601499 17601499 G A TMEM121B Synonymous SNV C173C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.069 236620 chrX 119077519 119077519 G C rs766236927 NKAP Nonsynonymous SNV S17W 0 0 0.007 0 0 0 0 2 0 0 1 0 23.4 236621 chr18 21338433 21338433 C T rs552223605 LAMA3 Nonsynonymous SNV R341C 0 0 0 3 0 0 0.008 0 0 0 0 0 27.1 236622 chr22 40662682 40662682 G T rs756106910 TNRC6B Nonsynonymous SNV W816C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 236623 chr2 201438536 201438536 G A rs371539494 SGO2 Nonsynonymous SNV R1156H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 236624 chr2 202074097 202074097 C T rs371401141 CASP10 Synonymous SNV S342S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.19 236625 chr3 196674223 196674223 C T PIGZ Stop gain W515X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 236626 chr10 98336454 98336454 T C TM9SF3 Nonsynonymous SNV T79A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 236627 chr10 98741293 98741293 A G rs11188980 LCOR Nonsynonymous SNV N359S 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.001 236628 chr22 42607194 42607194 G A rs148859074 TCF20 Nonsynonymous SNV A1373V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 236629 chr3 20161160 20161160 C T rs371334162 KAT2B Synonymous SNV N407N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.29 236630 chr3 27363710 27363710 C A rs141505128 NEK10 Synonymous SNV V135V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.58 236631 chr18 30350156 30350156 G A rs139808282 KLHL14 Synonymous SNV I133I 0 0 0 2 0 0 0.005 0 0 0 0 0 12.2 236632 chr22 44073970 44073970 G T rs200192772 EFCAB6 Stop gain S290X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 236633 chr3 38591859 38591859 C T rs771018427 SCN5A Nonsynonymous SNV A1984T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 10.61 236634 chrX 41025143 41025143 T A rs200518903 USP9X Synonymous SNV G668G 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 8.314 236635 chr10 105110649 105110649 A G rs764418443 PCGF6 Nonsynonymous SNV S59P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 236636 chrX 48822664 48822664 C T rs202044005 KCND1 Nonsynonymous SNV V506I 0 0 0.007 0 0 0 0 2 0 0 1 0 13.96 236637 chr14 52735290 52735290 C G rs144706723 PTGDR Nonsynonymous SNV A253G 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 11.83 236638 chr22 47022757 47022757 C T rs367882036 GRAMD4 Synonymous SNV L47L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.48 236639 chr14 52936777 52936777 T C rs767406312 TXNDC16 Synonymous SNV L527L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 236640 chr19 44982140 44982140 A G rs140482674 ZNF180 Synonymous SNV H161H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.057 236641 chrX 64772236 64772236 A G FRMD8P1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.074 236642 chrX 69772051 69772051 C T rs376114732 TEX11 Synonymous SNV A815A 0 0 0.007 0 0 0 0 2 0 0 1 0 10.83 236643 chr14 57092112 57092112 G A rs113277637 TMEM260 Nonsynonymous SNV E471K 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 Likely benign 15.32 236644 chr2 218757722 218757722 C T rs767538088 TNS1 Nonsynonymous SNV R119K 0 0.003 0 0 0 1 0 0 0 0 0 0 32 236645 chr19 45867742 45867742 G T rs375055722 ERCC2 Nonsynonymous SNV L196M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 20.1 236646 chr2 220034006 220034006 C A rs761449281 SLC23A3 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 236647 chr19 46321323 46321323 C G rs748351881 SYMPK Nonsynonymous SNV S992T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.08 236648 chr19 46393972 46393972 G C rs764832787 MYPOP Nonsynonymous SNV P370R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.216 236649 chr22 31534700 31534700 G T rs145639390 PLA2G3 Synonymous SNV I200I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.94 236650 chr3 44847432 44847432 G A rs572406117 KIF15 Nonsynonymous SNV R642Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 236651 chr14 64473776 64473776 C A rs377423642 SYNE2 Synonymous SNV I1471I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 236652 chr19 47424163 47424163 G A rs764408614 ARHGAP35 Nonsynonymous SNV R744H 0.002 0 0 3 2 0 0.008 0 0 0 0 0 23.3 236653 chr2 220419448 220419448 C A rs781382065 OBSL1 Nonsynonymous SNV V1542L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 236654 chr14 24040307 24040307 C G rs376601947 JPH4 Nonsynonymous SNV E545Q 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 25.8 236655 chr19 48205001 48205001 G C BICRA Nonsynonymous SNV A1338P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.457 236656 chr10 123976306 123976306 C G rs769356942 TACC2 Synonymous SNV T581T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.8 236657 chr3 47894380 47894380 C T rs149929003 MAP4 Nonsynonymous SNV D1104N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 236658 chr10 111878998 111878998 A C rs370227323 ADD3 Synonymous SNV P249P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 236659 chr10 126172802 126172802 G A rs770219935 LHPP Nonsynonymous SNV D74N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 236660 chr10 114059370 114059370 T G rs772730794 MIR6715A, MIR6715B 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 236661 chr14 31762673 31762674 AG - HEATR5A S1993Cfs*3 0.002 0.003 0 0 2 1 0 0 0 0 0 0 236662 chr3 49764967 49764967 C T rs868616498 IP6K1 Nonsynonymous SNV R140H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 236663 chr10 118327272 118327272 G T rs148560679 PNLIP Nonsynonymous SNV V454F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 236664 chr14 39870946 39870946 G A rs141687934 FBXO33 Nonsynonymous SNV A277V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 236665 chr19 6684423 6684423 G T rs139100972 C3 Nonsynonymous SNV T1383N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.351 236666 chr14 86088722 86088722 G A FLRT2 Synonymous SNV L288L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.436 236667 chr14 90770499 90770499 G A rs183085971 NRDE2 Nonsynonymous SNV A262V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.035 236668 chr2 234750102 234750102 G A rs141866486 HJURP Nonsynonymous SNV H357Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.889 236669 chr2 128744456 128744456 C T rs749113764 SAP130 Nonsynonymous SNV V647M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 236670 chr3 52833035 52833035 T C rs370787925 ITIH3 Synonymous SNV C239C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.677 236671 chr2 133543014 133543014 A C rs200637605 NCKAP5 Nonsynonymous SNV L457R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 236672 chr11 284304 284304 C T rs369355458 NLRP6 Nonsynonymous SNV T758M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.16 236673 chr11 377255 377255 T G B4GALNT4 Nonsynonymous SNV L711R 0 0 0 1 0 0 0.003 0 0 0 0 0 23 236674 chr19 10446011 10446011 G A ICAM3 Nonsynonymous SNV P146L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 236675 chr2 152319943 152319943 G C rs72860281 RIF1 Nonsynonymous SNV K1303N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.92 236676 chr19 10694295 10694295 T C rs34276903 AP1M2 Nonsynonymous SNV Y85C 0.001 0 0 6 1 0 0.015 0 0 0 0 0 23.4 236677 chr3 73112038 73112038 G A rs182369994 EBLN2 Nonsynonymous SNV R269H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.845 236678 chr2 242066859 242066859 T G PASK Nonsynonymous SNV N491H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 236679 chr14 64746714 64746714 T C ESR2 Nonsynonymous SNV K174E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 236680 chr10 21806053 21806053 A G rs868442911 SKIDA1 Synonymous SNV A233A 0 0 0.01 0 0 0 0 3 0 0 0 0 0.71 236681 chr2 170083067 170083067 T C rs142018283 LRP2 Synonymous SNV Q1753Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.447 236682 chr2 176987959 176987959 G C rs191379716 HOXD9 Nonsynonymous SNV G155R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 25.9 236683 chr10 3188139 3188139 C T rs143859416 PITRM1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.616 236684 chr10 44874130 44874130 G A rs766294067 CXCL12 Nonsynonymous SNV P74L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 236685 chr19 17330118 17330118 G A rs146686764 USE1 Synonymous SNV A173A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.61 236686 chr19 56372777 56372777 C T rs148448492 NLRP4 Nonsynonymous SNV H628Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.035 236687 chr15 50881789 50881789 G A rs200429162 TRPM7 Synonymous SNV S1463S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.699 236688 chr15 51291333 51291333 A G rs767786324 AP4E1 Nonsynonymous SNV Y915C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 236689 chr10 68688019 68688019 A G rs139383106 LRRTM3 Nonsynonymous SNV M449V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.37 236690 chr14 104618579 104618579 C T rs749354692 KIF26A Synonymous SNV D172D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.442 236691 chr10 71973265 71973265 T C rs61741009 PPA1 Synonymous SNV K155K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.931 236692 chr15 65347484 65347484 C T rs371824215 RASL12 Nonsynonymous SNV R166Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 236693 chr2 179397670 179397670 G A rs745743825 TTN Nonsynonymous SNV R25493C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 236694 chr19 33792934 33792934 G C rs1060504477 CEBPA Synonymous SNV P10P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 6.358 236695 chr19 35617608 35617608 C G LGI4 Nonsynonymous SNV G289R 0 0 0 4 0 0 0.01 0 0 0 0 0 25.8 236696 chr4 184932174 184932174 C T rs546961149 STOX2 Nonsynonymous SNV P728L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 236697 chr19 3624013 3624013 G A rs111701712 CACTIN Synonymous SNV R105R 0 0 0 2 0 0 0.005 0 0 0 0 0 2.029 236698 chr15 40685706 40685706 G A rs775588585 KNSTRN Nonsynonymous SNV V287I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.963 236699 chr15 77407293 77407293 A T PEAK1 Nonsynonymous SNV H1482Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 236700 chr15 79750184 79750184 C G MINAR1 Synonymous SNV T565T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.042 236701 chr2 219856827 219856827 G A rs112876753 CRYBA2 Synonymous SNV C100C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.81 236702 chr10 96827430 96827430 G C rs777455799 CYP2C8 Nonsynonymous SNV P63A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 236703 chr3 113377150 113377150 C A rs190594852 USF3 Nonsynonymous SNV V1127L 0 0.003 0 0 0 1 0 0 0 0 0 0 23 236704 chr10 99186195 99186195 C T PGAM1 Nonsynonymous SNV A44V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 236705 chr15 85669567 85669567 G A rs762837628 PDE8A Nonsynonymous SNV E693K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 236706 chr2 220421402 220421402 A G rs761577295 OBSL1 Synonymous SNV T1370T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.057 236707 chr1 156347270 156347270 C T rs370872115 RHBG Synonymous SNV G122G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 14.22 236708 chr2 191937906 191937906 T A rs140675301 STAT4 Nonsynonymous SNV E128V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 236709 chr11 20065336 20065336 T A rs185922626 NAV2-AS2 0 0 0 1 0 0 0.003 0 0 0 0 0 5.093 236710 chr11 20529892 20529892 A G rs74772442 PRMT3 Nonsynonymous SNV K448R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.7 236711 chr19 40886331 40886331 A G rs202073264 HIPK4 Nonsynonymous SNV W523R 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 23 236712 chr4 44685277 44685277 A T GUF1 Nonsynonymous SNV E204V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 236713 chr11 105009544 105009544 T G CARD18 Nonsynonymous SNV H90P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 236714 chr4 56770583 56770583 T C rs778980807 EXOC1 Synonymous SNV Y854Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.468 236715 chr4 5754651 5754651 G A rs542667023 EVC Nonsynonymous SNV R396Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.3 236716 chr11 1092947 1092947 C A rs111219026 MUC2 Nonsynonymous SNV T1589N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.959 236717 chr11 1092975 1092975 C A MUC2 Synonymous SNV P1598P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.367 236718 chr11 1092986 1092986 A C MUC2 Nonsynonymous SNV Q1602P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 236719 chr11 1092989 1092989 C G rs771986482 MUC2 Nonsynonymous SNV T1603S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 236720 chr11 1092990 1092990 C T rs773202605 MUC2 Synonymous SNV T1603T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.298 236721 chr11 1092991 1092991 C A rs746955921 MUC2 Nonsynonymous SNV P1604T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 236722 chr4 5803694 5803694 G C rs150373930 EVC Synonymous SNV A774A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.446 236723 chr11 1092997 1092997 A C rs12574944 MUC2 Nonsynonymous SNV T1606P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 236724 chr11 1092998 1092998 C T rs199740586 MUC2 Nonsynonymous SNV T1606M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.14 236725 chr11 1093020 1093020 T C rs11822749 MUC2 Synonymous SNV T1613T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 236726 chr11 1093057 1093057 A G rs11245947 MUC2 Nonsynonymous SNV T1626A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 236727 chr2 235950105 235950105 C T rs147385268 SH3BP4 Nonsynonymous SNV P231L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.36 236728 chr3 130107805 130107805 T C COL6A5 Synonymous SNV A748A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.074 236729 chr11 47833772 47833772 C G NUP160 Nonsynonymous SNV Q695H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.91 236730 chr16 1250370 1250370 C T rs57468015 CACNA1H Synonymous SNV P306P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 10.9 236731 chr20 57036605 57036605 G A APCDD1L Synonymous SNV H249H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.745 236732 chr3 133167480 133167480 C T rs376911067 BFSP2 Synonymous SNV N240N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.85 236733 chr4 68930409 68930409 C G TMPRSS11F Nonsynonymous SNV D337H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 236734 chr2 219875545 219875545 G A rs777874341 CFAP65 Synonymous SNV I1377I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.32 236735 chr16 17228544 17228544 T A rs770446499 XYLT1 Nonsynonymous SNV N605Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.4 236736 chr11 120201040 120201040 T C TLCD5 Nonsynonymous SNV V84A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.68 236737 chr11 121175165 121175165 C T SC5D Synonymous SNV Y102Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.929 236738 chr19 47778519 47778519 - GCCGCT INAFM1 R116_Y117insCR 0 0 0 2 0 0 0.005 0 0 0 0 0 236739 chr2 27804258 27804258 C T rs546590454 C2orf16 Nonsynonymous SNV R1607C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 236740 chr16 27374726 27374726 A G IL4R Nonsynonymous SNV K685E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.936 236741 chr19 48800721 48800721 C T rs114111020 CCDC114 Nonsynonymous SNV A509T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 8.015 236742 chr16 30129088 30129088 G A rs149920658 MAPK3 Synonymous SNV I226I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.94 236743 chr16 30997074 30997074 G A rs200826725 HSD3B7 Nonsynonymous SNV R32Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.5 236744 chr11 16077444 16077444 G A rs756350296 SOX6 Nonsynonymous SNV L328F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 236745 chr1 197060077 197060077 T G rs193251130 ASPM Nonsynonymous SNV Q1595P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 236746 chr11 57155259 57155259 C T rs749818783 PRG2 Nonsynonymous SNV R182H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.645 236747 chr11 57177428 57177428 G A rs35150411 SLC43A3 Synonymous SNV N409N 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 3.645 236748 chr1 198676013 198676013 C T rs369888892 PTPRC Nonsynonymous SNV A118V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.013 236749 chr19 51381793 51381793 A C rs60268688 KLK2 Nonsynonymous SNV D153A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.68 236750 chr3 195800916 195800916 G A rs769424131 TFRC Nonsynonymous SNV P26S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 236751 chr11 3243185 3243185 G A MRGPRG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.545 236752 chr11 33631413 33631413 C G rs377459851 KIAA1549L Nonsynonymous SNV T1727S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.103 236753 chr5 129243952 129243952 A G rs752938410 CHSY3 Nonsynonymous SNV I329V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 236754 chr11 408142 408142 C T rs779810175 SIGIRR Nonsynonymous SNV E91K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 236755 chr11 63065055 63065055 C G rs766486377 SLC22A10 Nonsynonymous SNV S229C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.58 236756 chr11 45793188 45793188 G A rs151186673 LINC02716 0 0 0.01 0 0 0 0 3 0 0 0 0 15.62 236757 chr11 47308065 47308065 C G rs143586888 MADD Nonsynonymous SNV T835R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 236758 chr16 69921985 69921985 C T rs13329778 WWP2 Synonymous SNV S133S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.7 236759 chr19 54599085 54599085 G T OSCAR Nonsynonymous SNV P225Q 0 0 0 4 0 0 0.01 0 0 0 0 0 6.978 236760 chr16 70507154 70507154 C A rs567507852 FCSK Synonymous SNV R559R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 236761 chr22 23630288 23630288 A G BCR Nonsynonymous SNV Y844C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 236762 chr16 71610224 71610224 C T rs890124917 TAT Nonsynonymous SNV G32E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.87 236763 chr11 65387009 65387009 G A rs755148770 PCNX3 Synonymous SNV A569A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.739 236764 chr22 25263123 25263123 G A rs5996779 SGSM1 Synonymous SNV Q330Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.968 236765 chr16 75203845 75203845 A G rs138435995 ZFP1 Synonymous SNV Q246Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.082 236766 chr19 55817790 55817790 C T BRSK1 Synonymous SNV I687I 0 0 0 3 0 0 0.008 0 0 0 0 0 14.39 236767 chr22 29456410 29456410 A T C22orf31 Nonsynonymous SNV I142N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.52 236768 chr19 56104668 56104668 G A rs546515126 FIZ1 Synonymous SNV R213R 0 0 0 2 0 0 0.005 0 0 0 0 0 9.998 236769 chr22 31011674 31011674 T C rs79999752 TCN2 Synonymous SNV D280D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.072 236770 chr22 31042989 31042989 C T rs115570083 SLC35E4 Nonsynonymous SNV R342W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.8 236771 chr3 120495445 120495445 G A rs200335600 GTF2E1 Nonsynonymous SNV E276K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.9 236772 chr22 32828375 32828375 G A rs117216213 BPIFC Synonymous SNV I378I 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 16.57 236773 chr19 57910504 57910504 C T rs989412880 ZNF548 Synonymous SNV C283C 0.003 0 0 3 4 0 0.008 0 0 0 0 0 9.245 236774 chr22 37868488 37868488 G T MFNG Nonsynonymous SNV P284T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.8 236775 chr11 76829219 76829219 G A rs782459893 CAPN5 Nonsynonymous SNV V330M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.223 236776 chr11 55595291 55595291 G C rs112845939 OR5L2 Synonymous SNV L199L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 236777 chr11 85396997 85396997 C G rs145917794 CCDC89 Nonsynonymous SNV E59D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 236778 chr22 40812994 40812994 G A rs141926991 MRTFA Synonymous SNV S758S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 14.86 236779 chr11 89182686 89182686 T C rs56061986 NOX4 Nonsynonymous SNV S66G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.26 236780 chr11 92577673 92577673 A G rs376024212 FAT3 Nonsynonymous SNV K3714E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 236781 chr3 57314446 57314446 T G rs201206359 ASB14 Synonymous SNV A257A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.031 236782 chr3 66433559 66433559 C T rs529341271 LRIG1 Nonsynonymous SNV V780I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.176 236783 chr17 12883493 12883493 - CCAGCC rs557213565 ARHGAP44 S427_Q428insPS 0 0 0 2 0 0 0.005 0 0 0 0 0 236784 chr17 12901770 12901770 C G rs140335642 ELAC2 Synonymous SNV P453P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 13.89 236785 chr3 89156950 89156950 A C EPHA3 Nonsynonymous SNV S18R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.02 236786 chr17 1582971 1582971 G A rs374996889 PRPF8 Synonymous SNV A407A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.99 236787 chr17 16525936 16525936 T A rs772671623 ZNF624 Nonsynonymous SNV D755V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 236788 chr3 98251402 98251402 G A rs375053855 GPR15 Synonymous SNV T175T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.57 236789 chr17 18042172 18042172 C T rs201026034 MYO15A Synonymous SNV A1685A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.55 236790 chr11 114182850 114182850 T G rs769948100 NNMT Nonsynonymous SNV L149R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 236791 chr17 18219418 18219418 C T rs201100615 SMCR8 Synonymous SNV G105G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.529 236792 chr5 52240775 52240775 A G rs143105379 ITGA1 Synonymous SNV S1096S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.453 236793 chr11 121456991 121456991 G A SORL1 Nonsynonymous SNV C1256Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 236794 chrX 23928481 23928481 A G rs149951169 CXorf58 Nonsynonymous SNV Q21R 0.002 0.003 0 3 2 1 0.008 0 1 0 0 1 0.001 236795 chr1 100618020 100618020 G A rs142353174 LRRC39 Synonymous SNV G291G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.761 236796 chr11 63488357 63488357 C T rs201862583 RTN3 Nonsynonymous SNV R683C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 25.4 236797 chr3 179051184 179051184 G A rs182333632 ZNF639 Synonymous SNV V144V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.358 236798 chr17 27308950 27308950 C T rs61737975 SEZ6 Nonsynonymous SNV V55I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.926 236799 chr11 64065101 64065101 G A rs200599852 KCNK4 Nonsynonymous SNV V213M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 236800 chr4 126240894 126240894 G A rs377275274 FAT4 Nonsynonymous SNV E1110K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.49 236801 chr11 64111275 64111275 G A CCDC88B Synonymous SNV S448S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.628 236802 chr3 134369686 134369686 C G rs748047746 KY Synonymous SNV S39S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 11.53 236803 chr17 30185803 30185803 C T COPRS Nonsynonymous SNV A13T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 236804 chr3 183882636 183882636 T C rs202225705 DVL3 Synonymous SNV G172G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.671 236805 chr3 183885732 183885732 G A rs201946541 DVL3 Synonymous SNV T459T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12 236806 chr1 32568191 32568191 C T rs993343861 TMEM39B Synonymous SNV L267L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.676 236807 chr11 130060514 130060514 C A rs762807258 ST14 Nonsynonymous SNV S267Y 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 236808 chr1 111965551 111965551 T G rs756580479 OVGP1 Synonymous SNV G202G 0 0 0 2 0 0 0.005 0 0 0 0 0 6.668 236809 chr11 66136079 66136079 C G rs764592046 SLC29A2 Nonsynonymous SNV S160T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 236810 chr11 66472746 66472746 G A rs767441529 SPTBN2 Synonymous SNV A667A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.65 236811 chr4 15938177 15938177 - T rs770791152 FGFBP1 Frameshift insertion V27Sfs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 236812 chr11 67817243 67817243 C T rs750821386 TCIRG1 Synonymous SNV P451P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 236813 chr3 195517563 195517563 G A MUC4 Synonymous SNV A296A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.327 236814 chrX 153588206 153588206 C A FLNA Synonymous SNV P1291P 0 0.003 0 2 0 1 0.005 0 0 0 0 1 13.22 236815 chr12 6806601 6806601 G A rs760903001 PIANP Synonymous SNV P125P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 236816 chr12 8043719 8043719 T G rs920266444 SLC2A14 Nonsynonymous SNV Q2P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.813 236817 chr11 74209115 74209115 C T rs554623669 LOC100287896 Synonymous SNV L389L 0 0 0.01 0 0 0 0 3 0 0 0 0 3.06 236818 chr6 109575835 109575835 G C CCDC162P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.087 236819 chr1 153661766 153661766 G A rs146236347 NPR1 Synonymous SNV S889S 0 0 0.007 2 0 0 0.005 2 0 0 0 0 12.97 236820 chr11 7982076 7982076 G A NLRP10 Synonymous SNV C361C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.633 236821 chr1 154223758 154223758 G T rs762838324 UBAP2L Synonymous SNV L485L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.36 236822 chr11 85431914 85431914 T G rs768976590 SYTL2 Synonymous SNV S516S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 236823 chr3 45988498 45988498 C T rs61757198 CXCR6 Synonymous SNV L175L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.288 236824 chr12 25157539 25157539 G A LOC645177 Synonymous SNV S88S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.324 236825 chr1 64643455 64643455 T C ROR1 Synonymous SNV S577S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 0.009 236826 chr3 46486841 46486841 C A rs147094293 LTF Nonsynonymous SNV V438L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.3 236827 chr12 25671800 25671800 T C rs148632702 LMNTD1 Nonsynonymous SNV N289S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 236828 chr11 93462789 93462789 G A rs748809577 CEP295 Nonsynonymous SNV R2470H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.334 236829 chr17 46136759 46136759 A C NFE2L1 Nonsynonymous SNV D662A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 236830 chr3 47374699 47374699 C T rs138465345 KLHL18 Nonsynonymous SNV P218L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 236831 chr12 101012346 101012346 A G rs753510332 GAS2L3 Nonsynonymous SNV H210R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 236832 chr6 148789688 148789688 C G rs143701801 SASH1 Nonsynonymous SNV L87V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 236833 chr12 40646786 40646786 C T rs34594498 LRRK2 Nonsynonymous SNV A419V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 24.3 236834 chr17 48433184 48433184 C T rs200978138 XYLT2 Synonymous SNV C377C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.93 236835 chr1 7858731 7858731 A G rs572740633 PER3 Nonsynonymous SNV E264G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.4 236836 chr3 50005101 50005101 G A rs182256104 RBM6 Synonymous SNV P81P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.625 236837 chr1 159799955 159799955 A G SLAMF8 Nonsynonymous SNV T114A 0 0 0 2 0 0 0.005 0 0 0 0 0 17.77 236838 chr4 48140954 48140954 G A rs376411203 TEC Nonsynonymous SNV R541C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 236839 chr12 105622918 105622918 G A rs137856640 APPL2 Synonymous SNV R46R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 236840 chr17 48757261 48757261 G T ABCC3 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 236841 chr12 108600092 108600092 G A WSCD2 Nonsynonymous SNV D137N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.53 236842 chr1 16069642 16069642 C G TMEM82 Nonsynonymous SNV L97V 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 25.3 236843 chr12 49390666 49390666 T G DDN Nonsynonymous SNV S665R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.83 236844 chr12 50467753 50467753 C T rs183395256 ASIC1 Nonsynonymous SNV T129M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.16 236845 chr12 112229136 112229136 C T ALDH2 Synonymous SNV N189N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 236846 chr12 53073859 53073859 C A KRT1 Nonsynonymous SNV G92C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.3 236847 chr17 63532456 63532456 G A rs587780123 AXIN2 Nonsynonymous SNV S643L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.4 236848 chr17 6531919 6531919 A G rs201379908 KIAA0753 Nonsynonymous SNV V79A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.003 236849 chr3 4816949 4816949 C A ITPR1 Nonsynonymous SNV N1938K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 236850 chr12 122821231 122821231 A G rs765723192 CLIP1 Nonsynonymous SNV L793S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 236851 chr1 172629254 172629254 C T rs200113302 FASLG Nonsynonymous SNV T123I 0 0 0 3 0 0 0.008 0 0 0 0 0 2.642 236852 chr20 17462335 17462335 G A PCSK2 Nonsynonymous SNV V478I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 236853 chr12 131306278 131306278 T C rs7301926 STX2 Nonsynonymous SNV K54R 0.002 0 0.02 2 2 0 0.005 6 0 0 1 0 22.5 236854 chr17 72209734 72209734 C G rs150005146 TTYH2 Nonsynonymous SNV A3G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 236855 chr12 57572235 57572235 G A rs200750193 LRP1 Synonymous SNV T1485T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.7 236856 chr4 110890153 110890153 G A rs140682556 EGF Synonymous SNV K492K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign 11.18 236857 chr1 184787958 184787958 C T rs201730264 NIBAN1 Synonymous SNV A329A 0 0 0 3 0 0 0.008 0 0 0 0 0 10.71 236858 chr12 1940139 1940139 C T LRTM2 Nonsynonymous SNV L36F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.158 236859 chr12 19489459 19489459 G A rs763223331 PLEKHA5 Nonsynonymous SNV R636Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 236860 chr17 73624763 73624763 G A rs778498749 RECQL5 Stop gain R857X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 236861 chr12 21727234 21727234 A G rs763671258 GYS2 Synonymous SNV Y174Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 236862 chr17 40273171 40273171 G A KAT2A Nonsynonymous SNV A51V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 236863 chr17 74289347 74289347 T G rs149339101 QRICH2 Synonymous SNV P321P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.314 236864 chr12 30882246 30882246 C T rs146283389 CAPRIN2 Nonsynonymous SNV R40H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 236865 chr17 76160180 76160180 A G rs370571213 C17orf99 Synonymous SNV P125P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.101 236866 chr1 197704714 197704714 A G DENND1B 0 0 0 3 0 0 0.008 0 0 0 0 0 2.098 236867 chr1 200860782 200860782 G A rs561120720 INAVA Synonymous SNV E38E 0 0 0 3 0 0 0.008 0 0 0 0 0 11.26 236868 chr12 3409245 3409245 G C LOC100128253 0 0 0.003 0 0 0 0 1 0 0 0 0 8.546 236869 chr12 3805977 3805977 A C rs144314920 CRACR2A Nonsynonymous SNV D63E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 236870 chr17 76522749 76522749 T C DNAH17 Nonsynonymous SNV Y1232C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 236871 chr20 37570652 37570652 C A rs1045179335 FAM83D Nonsynonymous SNV D178E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 29.8 236872 chr6 41754853 41754853 T G rs777646423 PRICKLE4 Nonsynonymous SNV C381G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 236873 chr5 126770437 126770437 C T MEGF10 Synonymous SNV H633H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 236874 chr12 49462899 49462899 G A RHEBL1 Nonsynonymous SNV L13F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 236875 chr12 50357903 50357903 C G rs772153691 AQP5 Nonsynonymous SNV P186R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 236876 chr12 109947514 109947514 T C rs137958276 UBE3B Nonsynonymous SNV I579T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 236877 chr17 79166597 79166597 G A rs200824605 CEP131 Nonsynonymous SNV R793W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 236878 chr1 207078467 207078467 G A rs41304091 FCMR Nonsynonymous SNV A245V 0.002 0 0 4 2 0 0.01 0 0 0 0 0 5.07 236879 chr6 46977644 46977644 A G rs202087361 ADGRF1 Synonymous SNV V509V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.108 236880 chr12 120589023 120589023 G A rs1010571973 GCN1 Nonsynonymous SNV S1412L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 236881 chr17 80211007 80211007 G A rs201710093 CSNK1D Synonymous SNV F150F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 236882 chr17 59934529 59934540 CATGCACAACAA - rs730881648 BRIP1 C87_C90del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236883 chr6 50803973 50803973 C T rs199498777 TFAP2B Synonymous SNV L267L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.3 236884 chr12 122064780 122064780 C T ORAI1 Nonsynonymous SNV P45S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.058 236885 chr17 8198059 8198059 C T rs766356675 SLC25A35 Nonsynonymous SNV V23M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 236886 chr1 86909626 86909626 T C rs555813478 CLCA2 Nonsynonymous SNV Y549H 0 0 0 3 0 0 0.008 0 0 0 0 0 0.453 236887 chr12 124094632 124094632 G A rs775990868 DDX55 Nonsynonymous SNV S233N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.449 236888 chr6 56999580 56999580 A G rs867049921 ZNF451 Nonsynonymous SNV H205R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.778 236889 chr12 125284750 125284750 C T SCARB1 Nonsynonymous SNV A350T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 236890 chr12 125396584 125396584 A G rs11537766 UBC Synonymous SNV A578A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 236891 chr6 65300987 65300987 C T EYS Synonymous SNV A1591A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.74 236892 chr6 65596611 65596611 G A rs201819948 EYS Nonsynonymous SNV L991F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.975 236893 chr12 57066755 57066755 T C rs372802021 PTGES3 Nonsynonymous SNV K33E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 236894 chr18 13762094 13762094 G C rs1056963667 RNMT Nonsynonymous SNV A484P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.355 236895 chr6 7189398 7189398 A G rs73374662 RREB1 Nonsynonymous SNV T90A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.67 236896 chr18 21118573 21118573 C T rs80358254 NPC1 Nonsynonymous SNV G992R 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 26.4 236897 chr12 57975698 57975698 C T rs202074843 KIF5A Synonymous SNV G896G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 236898 chr18 21148862 21148862 C T rs768728943 NPC1 Nonsynonymous SNV V130I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.69 236899 chr4 2746147 2746147 G A rs148171406 TNIP2 Synonymous SNV V248V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.955 236900 chr12 133313557 133313557 G A rs760441563 ANKLE2 Synonymous SNV H505H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.861 236901 chr6 84665165 84665165 A G CYB5R4 Nonsynonymous SNV T499A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.6 236902 chr12 6939177 6939177 T C P3H3 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 236903 chr12 70954546 70954546 C T rs372152134 PTPRB Nonsynonymous SNV R1138Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 236904 chr12 71003584 71003584 T C rs202134984 PTPRB Nonsynonymous SNV H4R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 236905 chr12 7525970 7525970 G T CD163L1 Nonsynonymous SNV P1236T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 236906 chr18 44159662 44159662 A G LOXHD1 Synonymous SNV D580D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.042 236907 chr12 81072458 81072458 T C PTPRQ Synonymous SNV V2100V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.945 236908 chr13 41507587 41507587 C T rs147878914 ELF1 Nonsynonymous SNV E588K 0 0 0 2 0 0 0.005 0 0 0 0 1 25.9 236909 chr12 91363873 91363873 A T rs150809530 EPYC Stop gain L249X 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 44 236910 chr13 42161718 42161718 C T rs754519395 VWA8 Nonsynonymous SNV R1734Q 0 0 0 2 0 0 0.005 0 0 0 0 1 33 236911 chr18 56010160 56010160 G A rs781089843 NEDD4L Nonsynonymous SNV R326H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.9 236912 chr4 184367324 184367324 G A rs200639211 CDKN2AIP Nonsynonymous SNV A163T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.8 236913 chr17 78272268 78272268 C G rs201599942 RNF213 Synonymous SNV A720A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.701 236914 chr13 48669200 48669200 C G rs147349121 MED4 Synonymous SNV S5S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.25 236915 chr1 231398486 231398486 G C GNPAT Nonsynonymous SNV Q91H 0 0 0 3 0 0 0.008 0 0 0 0 0 27.6 236916 chr12 98850409 98850409 C T rs138528234 SLC9A7P1 0 0 0.014 0 0 0 0 4 0 0 0 0 8.858 236917 chr17 79495822 79495822 C T rs782187587 FSCN2 Nonsynonymous SNV R89C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.1 236918 chr4 187158019 187158019 A T KLKB1 Nonsynonymous SNV Q138L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 236919 chr18 61234003 61234003 C T rs999616133 SERPINB12 Nonsynonymous SNV T346M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 236920 chr17 80332893 80332893 C T rs772597650 UTS2R Synonymous SNV Y231Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.187 236921 chr5 2755160 2755160 A G C5orf38 Synonymous SNV R117R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.153 236922 chr21 45815425 45815425 C G rs150484698 TRPM2 Nonsynonymous SNV I641M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 26.1 236923 chr13 114453342 114453342 A G LINC00552 0 0 0.003 0 0 0 0 1 0 0 0 0 7.698 236924 chr13 103395538 103395538 C T CCDC168 Synonymous SNV K2503K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.304 236925 chr21 45845699 45845699 G A rs150071509 TRPM2 Nonsynonymous SNV V1262M 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 27.4 236926 chr13 21296049 21296049 G A rs146971986 IL17D Nonsynonymous SNV A189T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.262 236927 chr18 77918000 77918000 G A PARD6G Nonsynonymous SNV A262V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.53 236928 chr7 1022877 1022877 C T rs138178506 CYP2W1 Synonymous SNV G10G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.548 236929 chr1 155296547 155296547 G A rs139448048 RUSC1 Nonsynonymous SNV A205T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.32 236930 chr18 9570592 9570592 A G rs189164747 PPP4R1 Nonsynonymous SNV L379P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 16.31 236931 chr1 156130806 156130806 G T SEMA4A Nonsynonymous SNV A134S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 236932 chr13 114009642 114009642 C T rs371557832 GRTP1 Synonymous SNV R112R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.94 236933 chr7 113519997 113519997 C T rs533705714 PPP1R3A Nonsynonymous SNV V384I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.49 236934 chr19 10248655 10248655 C T rs184125970 DNMT1 Synonymous SNV T1366T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 15.51 236935 chr4 845686 845686 C G rs55801437 GAK Nonsynonymous SNV Q1041H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24 236936 chr13 33344847 33344847 G A PDS5B Nonsynonymous SNV G1374R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 236937 chr19 10426612 10426612 C T FDX2 Nonsynonymous SNV G24S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.91 236938 chr7 12420201 12420201 C A rs200611733 VWDE Stop gain E234X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 38 236939 chr7 127894621 127894621 C T rs28954113 LEP Synonymous SNV N103N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 4.31 236940 chr13 44463062 44463062 A G rs770273270 LACC1 Synonymous SNV A359A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.646 236941 chr5 60448762 60448762 G - rs1064793214 NDUFAF2 G164Afs*25 0.001 0.003 0 0 1 1 0 0 0 0 0 0 236942 chr19 11541831 11541831 C T rs143192349 CCDC151 Nonsynonymous SNV R31Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 32 236943 chr13 52539048 52539048 G A rs368381292 ATP7B Nonsynonymous SNV P610L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25 236944 chr1 2525260 2525260 G A rs571161601 MMEL1 Synonymous SNV D620D 0 0 0 2 0 0 0.005 0 0 0 0 0 4.372 236945 chr13 67800536 67800536 C T rs184620034 PCDH9 Synonymous SNV P679P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 236946 chr18 47799757 47799757 G A rs376324401 MBD1 Nonsynonymous SNV P432S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 236947 chr5 112349109 112349109 C T rs149633478 DCP2 Synonymous SNV F362F 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 16.38 236948 chr7 141401705 141401705 G C DENND11 Synonymous SNV V83V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.12 236949 chr14 24654752 24654752 C A rs367677423 IPO4 Nonsynonymous SNV Q397H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.7 236950 chr19 15271933 15271933 G C rs886054252 NOTCH3 Nonsynonymous SNV P2169R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.7 236951 chr19 1578405 1578405 G A rs142398380 MBD3 Synonymous SNV D270D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.241 236952 chr14 105346714 105346714 G A rs373618030 CEP170B Nonsynonymous SNV E72K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 236953 chr1 3410588 3410588 G A rs765642734 MEGF6 Synonymous SNV A1410A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.367 236954 chr5 94882802 94882802 C G TTC37 Nonsynonymous SNV R18T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 236955 chr19 17132868 17132868 C T rs182405923 CPAMD8 Synonymous SNV P72P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.965 236956 chr6 10626753 10626753 C T GCNT2 Synonymous SNV P372P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.06 236957 chr22 37325774 37325774 C T rs539880950 CSF2RB Nonsynonymous SNV R215C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.6 236958 chr14 21249963 21249963 A G rs776150435 RNASE6 Synonymous SNV E35E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.785 236959 chr14 21469446 21469446 G A rs145056031 SLC39A2 Nonsynonymous SNV R213Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 236960 chr22 37770790 37770790 G T rs6000698 ELFN2 Nonsynonymous SNV S262Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 1.719 236961 chr22 37770822 37770822 G A rs746476382 ELFN2 Synonymous SNV P251P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.018 236962 chr14 22134009 22134009 C T rs773654400 OR4E2 Nonsynonymous SNV S238F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 236963 chr7 156974228 156974228 A G rs148597222 UBE3C Synonymous SNV L211L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.545 236964 chr14 64408807 64408807 T C rs376281752 SYNE2 Synonymous SNV D118D 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 1.072 236965 chr5 107716436 107716436 T C rs933200617 FBXL17 Synonymous SNV P319P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.369 236966 chr14 23995150 23995150 C T rs763967062 ZFHX2 Nonsynonymous SNV R1334Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 236967 chr19 19645843 19645843 G A rs372652738 YJEFN3 Nonsynonymous SNV A57T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.9 236968 chr7 21470199 21470199 A G rs374938863 SP4 Synonymous SNV V455V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.65 236969 chr19 20308438 20308438 G A rs201703128 ZNF486 Nonsynonymous SNV A307T 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 13.09 236970 chr6 117683931 117683931 - G ROS1 Stop gain K1073* 0 0.003 0 0 0 1 0 0 0 0 0 0 236971 chr14 29247416 29247416 C T rs72669758 LINC01551 0 0 0.003 0 0 0 0 1 0 0 0 0 7.641 236972 chr14 74961660 74961660 A T rs375133115 ISCA2 Nonsynonymous SNV Q141L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 236973 chr5 149773110 149773110 A G TCOF1 Nonsynonymous SNV K1182R 0.002 0.008 0 0 2 3 0 0 0 0 0 0 25.1 236974 chr5 127276891 127276891 G - CCDC192 F205Sfs*17 0 0.003 0 0 0 1 0 0 0 0 0 0 236975 chr19 30199201 30199201 G A C19orf12 Synonymous SNV F51F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.322 236976 chr1 54605623 54605623 G T rs146704826 CDCP2 Nonsynonymous SNV P307H 0.004 0.003 0 6 5 1 0.015 0 0 0 0 0 23.9 236977 chr6 136932472 136932472 G A rs763688676 MAP3K5 Synonymous SNV F823F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.42 236978 chr19 3282465 3282465 C T rs151174290 CELF5 Synonymous SNV T311T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.16 236979 chr19 35434451 35434451 A T ZNF30 Nonsynonymous SNV H195L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 236980 chr5 160047528 160047528 C A rs192890224 ATP10B Nonsynonymous SNV V748L 0.004 0 0.007 0 5 0 0 2 0 0 0 0 32 236981 chr14 92472108 92472108 T G rs772906406 TRIP11 Nonsynonymous SNV K737Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.034 236982 chr14 92958551 92958551 C T rs750676867 SLC24A4 Synonymous SNV S561S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.95 236983 chr14 96797845 96797845 A T ATG2B Nonsynonymous SNV L533H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.802 236984 chr1 6700001 6700001 C T rs781252102 DNAJC11 Nonsynonymous SNV R405H 0 0 0 2 0 0 0.005 0 0 0 0 0 28.7 236985 chr2 101670762 101670762 C T rs200227901 TBC1D8 Nonsynonymous SNV E132K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.2 236986 chr14 102900808 102900808 G T TECPR2 Nonsynonymous SNV V552L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.773 236987 chr1 75072513 75072513 C T rs144402838 ERICH3 Nonsynonymous SNV G421R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.066 236988 chr7 53103370 53103370 C T rs760554465 POM121L12 Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 236989 chr14 74876266 74876266 T C SYNDIG1L Nonsynonymous SNV Q61R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 236990 chr19 38896202 38896202 G A rs756709692 FAM98C Nonsynonymous SNV R200H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 236991 chr14 75538025 75538025 C T rs750135264 ZC2HC1C Nonsynonymous SNV T250M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 236992 chr6 170169738 170169738 A T ERMARD Nonsynonymous SNV N262Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 236993 chr7 73152033 73152033 G C rs201564905 ABHD11 Nonsynonymous SNV D107E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.66 236994 chr15 25953148 25953148 G A rs147632954 ATP10A Synonymous SNV R850R 0 0 0 2 0 0 0.005 0 0 0 0 1 13.86 236995 chr1 231830452 231830452 G A DISC1 Synonymous SNV G316G 0 0 0 2 0 0 0.005 0 0 0 0 0 2.961 236996 chr5 34913603 34913603 T C rs141639726 RAD1 Synonymous SNV L93L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.68 236997 chr5 39202436 39202436 G A FYB1 Synonymous SNV S219S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.027 236998 chr19 42599837 42599837 A G rs775430957 POU2F2 Nonsynonymous SNV S272P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 236999 chr2 131487115 131487115 G A rs764014596 GPR148 Nonsynonymous SNV A131T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.047 237000 chr5 483546 483546 C T rs778569549 SLC9A3 Synonymous SNV S328S 0.003 0.005 0 0 4 2 0 0 0 0 0 0 17.27 237001 chr15 101109680 101109682 TGA - LINS1 S679del 0 0 0.003 0 0 0 0 1 0 0 0 0 237002 chr20 11871563 11871563 C G rs182782561 BTBD3 Nonsynonymous SNV R50G 0.003 0.003 0.007 1 3 1 0.003 2 1 0 0 0 8.921 237003 chr19 44602035 44602035 G A rs141989511 ZNF224 Synonymous SNV T3T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.882 237004 chr15 42109205 42109205 A G rs920183451 MAPKBP1 Synonymous SNV S561S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.66 237005 chr6 35444118 35444118 C T rs774744184 TEAD3 Synonymous SNV E229E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 237006 chr15 42371953 42371953 T C rs781443451 PLA2G4D Nonsynonymous SNV M367V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.4 237007 chr15 37385803 37385803 G A rs150470779 MEIS2 Synonymous SNV S193S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.09 237008 chr15 42987460 42987460 G A rs757659249 STARD9 Nonsynonymous SNV R4362Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 237009 chr15 48764866 48764866 A G rs759712586 FBN1 Synonymous SNV D1406D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.01 237010 chr8 110418675 110418675 A T PKHD1L1 Nonsynonymous SNV Y594F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.015 237011 chr15 50830940 50830940 T C USP50 Nonsynonymous SNV K257E 0 0 0 1 0 0 0.003 0 0 0 0 0 25 237012 chr5 75591697 75591697 T A SV2C Nonsynonymous SNV Y478N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 237013 chr20 20037441 20037441 G C rs200491292 CFAP61 0 0 0 3 0 0 0.008 0 0 0 0 0 25.8 237014 chr15 42694005 42694005 C T rs370231427 CAPN3 Synonymous SNV Y459Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.738 237015 chr20 238421 238421 T A rs188183503 DEFB132 Star tloss M1? 0 0 0 3 0 0 0.008 0 0 0 0 0 22.2 237016 chr15 59377888 59377888 A G rs76979606 RNF111 Synonymous SNV A827A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.62 237017 chr19 49002387 49002389 CCT - rs751490115 LMTK3 E675del 0 0 0 1 0 0 0.003 0 0 0 0 0 237018 chr20 31688278 31688278 T A rs201605125 BPIFB4 Nonsynonymous SNV M539K 0 0 0 3 0 0 0.008 0 0 0 0 0 7.964 237019 chr20 32000149 32000149 G A rs143309917 SNTA1 Synonymous SNV R331R 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.462 237020 chr20 34099360 34099360 C A rs369255727 CEP250 Nonsynonymous SNV R1780S 0 0 0 3 0 0 0.008 0 0 0 0 0 28.1 237021 chr20 35128712 35128712 C A DLGAP4 Nonsynonymous SNV T30N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.1 237022 chr5 39382827 39382827 C T rs147429919 DAB2 Nonsynonymous SNV V391I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.21 237023 chr6 56480431 56480431 A T rs146838373 DST Nonsynonymous SNV L2612M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 237024 chr20 372180 372180 C T rs149447454 TRIB3 Nonsynonymous SNV R181C 0 0 0 2 0 0 0.005 0 0 0 0 0 34 237025 chr20 42168853 42168853 C T rs144951279 L3MBTL1 Nonsynonymous SNV R656C 0 0 0 3 0 0 0.008 0 0 0 0 0 29.7 237026 chr15 75652326 75652326 G C rs146507376 MAN2C1 Synonymous SNV L471L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.218 237027 chr15 75969053 75969053 T C rs137981794 CSPG4 Nonsynonymous SNV D1936G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.559 237028 chr15 71272452 71272452 C T rs754131524 LRRC49 Nonsynonymous SNV R317C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 237029 chr6 76640807 76640807 G A rs752746597 IMPG1 Synonymous SNV N624N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.22 237030 chr15 74473189 74473189 G A STRA6 Stop gain Q592X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 237031 chr15 75647055 75647055 A G NEIL1 Nonsynonymous SNV K419R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.133 237032 chr19 52469187 52469187 A T rs760833275 ZNF350 Nonsynonymous SNV H173Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.08 237033 chr19 52538303 52538303 C T rs150578448 ZNF432 Nonsynonymous SNV C210Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.7 237034 chr2 201303931 201303931 C A SPATS2L Nonsynonymous SNV Q118K 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.9 237035 chr19 54973856 54973856 C G rs199881375 LENG9 Nonsynonymous SNV R307T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.121 237036 chr19 36207494 36207494 C T rs202219173 ZBTB32 Nonsynonymous SNV A103V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 237037 chr20 60990269 60990269 G A RBBP8NL Synonymous SNV A234A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.974 237038 chr15 90892222 90892222 G A rs558452207 GABARAPL3 0 0 0.003 0 0 0 0 1 0 0 0 0 8.932 237039 chr20 61584197 61584197 A G SLC17A9 Synonymous SNV P5P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.42 237040 chr15 92647531 92647531 C T rs77093002 SLCO3A1 Synonymous SNV D256D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 237041 chr20 62199827 62199827 G A rs940427052 HELZ2 Synonymous SNV P538P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.55 237042 chr15 102346514 102346514 A T OR4F6 Nonsynonymous SNV M198L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 237043 chr20 62715037 62715037 T A rs950309128 LKAAEAR1 Nonsynonymous SNV I142F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 237044 chr19 39410451 39410451 A T rs773149708 SARS2 Nonsynonymous SNV L237H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 237045 chr19 57641897 57641897 T C rs780370092 USP29 Synonymous SNV H618H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 237046 chr16 14312679 14312679 G T MRTFB Nonsynonymous SNV V162F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 237047 chr6 161512509 161512509 A G rs141172376 MAP3K4 Synonymous SNV E1024E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.511 237048 chr16 15758652 15758652 A G rs778153855 NDE1 Nonsynonymous SNV K6R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.278 237049 chr16 1997006 1997006 C T rs370640499 RPL3L Nonsynonymous SNV R261H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.08 237050 chr16 16292039 16292039 C G ABCC6 Nonsynonymous SNV V393L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 237051 chr2 100027304 100027304 A T REV1 Nonsynonymous SNV L732Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 237052 chr7 105733468 105733468 G A rs751263092 SYPL1 Nonsynonymous SNV P173L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 237053 chr2 100209721 100209721 G A rs897323624 AFF3 Nonsynonymous SNV P826L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.024 237054 chr16 1877586 1877586 G A rs138540253 FAHD1 Stop gain W119X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 237055 chr16 18809360 18809360 G A rs367581150 ARL6IP1 Synonymous SNV I30I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.69 237056 chr8 57878801 57878801 C T rs747764009 IMPAD1 Nonsynonymous SNV A253T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 237057 chr16 2814382 2814382 G T SRRM2 Nonsynonymous SNV D1285Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.59 237058 chr21 33716886 33716886 G A URB1 Nonsynonymous SNV A1417V 0 0 0 2 0 0 0.005 0 0 0 0 0 16.2 237059 chr21 33727279 33727279 A G URB1 Nonsynonymous SNV Y712H 0 0 0 3 0 0 0.008 0 0 0 0 0 17.27 237060 chr19 6182889 6182889 C T ACSBG2 Nonsynonymous SNV A345V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.384 237061 chr16 20373806 20373806 C T rs11648131 PDILT Nonsynonymous SNV D446N 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 26 237062 chr19 6312418 6312418 G C rs771772919 ACER1 Synonymous SNV V62V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.046 237063 chr16 3705400 3705400 C T rs945564930 DNASE1 Nonsynonymous SNV A9V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 237064 chr19 6713419 6713419 G A rs866613328 C3 Nonsynonymous SNV P292L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 237065 chr19 42906023 42906023 C G rs771970424 LIPE Nonsynonymous SNV G1058R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Likely benign 1.789 237066 chr16 21156689 21156689 T C rs149545921 DNAH3 Synonymous SNV Q87Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.195 237067 chr16 2141018 2141018 C T rs536586062 PKD1 Nonsynonymous SNV G3956D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 22 237068 chr16 2282904 2282904 G A rs751372530 E4F1 Nonsynonymous SNV R293H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.53 237069 chr19 7075115 7075115 C T rs199839153 ZNF557 Synonymous SNV A10A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.88 237070 chr8 77763303 77763303 A T rs779410741 ZFHX4 Nonsynonymous SNV Q1382H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.826 237071 chr2 110053509 110053509 G A SH3RF3 Nonsynonymous SNV A579T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.17 237072 chr16 4934622 4934622 C T rs200703896 PPL Nonsynonymous SNV R1345Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.208 237073 chr2 113404461 113404461 T G rs773006725 SLC20A1 Nonsynonymous SNV V19G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.007 237074 chr16 10996005 10996005 G A rs148279688 CIITA Nonsynonymous SNV G198S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.002 237075 chr16 28995180 28995180 T C rs201490940 SPNS1 Nonsynonymous SNV M391T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 237076 chr2 234704367 234704367 C A MROH2A Synonymous SNV T345T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.24 237077 chr19 812857 812857 G A rs778417733 PLPPR3 Synonymous SNV L652L 0 0 0 2 0 0 0.005 0 0 0 0 0 3.49 237078 chr2 121991702 121991702 T C rs139334996 TFCP2L1 Nonsynonymous SNV Q388R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.45 237079 chr2 128263160 128263160 C T IWS1 Nonsynonymous SNV D107N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 237080 chr2 131522032 131522032 G T AMER3 Nonsynonymous SNV R796L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.775 237081 chr16 3712004 3712004 G C rs929207704 TRAP1 Nonsynonymous SNV L589V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 237082 chr21 47660995 47660995 G T MCM3AP-AS1 0 0 0 4 0 0 0.01 0 0 0 0 0 1.74 237083 chr6 38957816 38957816 C T rs770419203 DNAH8 Nonsynonymous SNV P4144L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 237084 chr9 107602697 107602697 C T rs148416294 ABCA1 Nonsynonymous SNV R306H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.9 237085 chr19 48660360 48660360 C T rs41549918 LIG1 Nonsynonymous SNV R64H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.05 237086 chr21 47863842 47863842 T - rs767150246 PCNT S3077Pfs*16 0 0 0 4 0 0 0.01 0 0 0 0 0 237087 chr16 46771873 46771873 G A MYLK3 Nonsynonymous SNV P251S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.802 237088 chr9 112015789 112015789 C T EPB41L4B Nonsynonymous SNV R404Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 237089 chr22 19455503 19455503 T C rs1033857176 UFD1 Synonymous SNV E105E 0 0 0 3 0 0 0.008 0 0 0 0 0 3.539 237090 chr22 19494914 19494914 G A rs145642842 CDC45 Nonsynonymous SNV R231H 0 0 0 3 0 0 0.008 0 0 0 0 0 23.5 237091 chr16 30122809 30122809 G A rs201638108 GDPD3 Stop gain R203X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 237092 chr16 30664156 30664156 C A rs199988594 PRR14 Nonsynonymous SNV Q103K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.505 237093 chr2 160761136 160761136 A G rs35284483 LY75, LY75-CD302 Nonsynonymous SNV W20R 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.002 237094 chr19 9639665 9639665 A T ZNF426 Nonsynonymous SNV S314R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.414 237095 chr2 162813669 162813669 C T rs61752557 SLC4A10 Synonymous SNV L825L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 14.12 237096 chr2 163374612 163374612 A G rs773582013 KCNH7 Nonsynonymous SNV S174P 0 0 0 2 0 0 0.005 0 0 0 0 0 24 237097 chr16 48382184 48382184 A C rs148065079 LONP2 Synonymous SNV R730R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.296 237098 chr6 46849841 46849841 G A rs373642796 ADGRF5 Nonsynonymous SNV R206W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 237099 chr16 66638811 66638811 G T rs746392593 CMTM3 Nonsynonymous SNV A35S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.235 237100 chr6 166736375 166736375 C T SFT2D1 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 237101 chr16 67300058 67300058 G A rs61744117 SLC9A5 Synonymous SNV K615K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 237102 chr16 67325652 67325652 C T KCTD19 Synonymous SNV V769V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 237103 chr16 67983745 67983745 A G rs62059925 SLC12A4 Nonsynonymous SNV I571T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 237104 chr1 109439703 109439703 G A rs747080388 GPSM2 Nonsynonymous SNV A92T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 237105 chr2 45235945 45235945 G A SIX2 Nonsynonymous SNV P102L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.7 237106 chr16 74750363 74750363 G A rs149698079 FA2H Synonymous SNV G307G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 237107 chr9 129870426 129870426 C A rs759968104 ANGPTL2 Nonsynonymous SNV E195D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.9 237108 chr16 75269095 75269095 C T rs79704652 BCAR1 Nonsynonymous SNV G358S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.63 237109 chr16 76486623 76486623 G C rs8055272 CNTNAP4 Synonymous SNV S301S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 237110 chr1 113266594 113266594 G A rs41283082 TAFA3 Nonsynonymous SNV R98H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.532 237111 chr6 26107839 26107841 AGG - H1-6 P161del 0 0.003 0 0 0 1 0 0 0 0 0 0 237112 chr6 26107847 26107847 - CGC H1-6 A158_T159insA 0 0.003 0 0 0 1 0 0 0 0 0 0 237113 chr16 78466521 78466521 C T rs193001955 WWOX Nonsynonymous SNV R197C 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 34 237114 chr9 131088143 131088143 C T rs139770523 COQ4 Nonsynonymous SNV R129C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 26.2 237115 chr1 11733828 11733828 - C rs762928966 FBXO6 Frameshift insertion E269Rfs*68 0 0 0 2 0 0 0.005 0 0 0 0 0 237116 chr1 11733831 11733831 G A rs752377794 FBXO6 Nonsynonymous SNV E269K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.562 237117 chr16 75338995 75338995 G A rs771336487 CFDP1 Synonymous SNV L246L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.16 237118 chr9 132636887 132636887 C A rs374930544 USP20 Nonsynonymous SNV H591Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 237119 chr9 134070656 134070656 G A rs141249502 NUP214 Synonymous SNV P58P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.44 237120 chr1 12336924 12336924 G A rs144696813 VPS13D Synonymous SNV S1093S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.42 237121 chr22 39126701 39126701 G A rs367588109 GTPBP1 Nonsynonymous SNV G668S 0 0 0 3 0 0 0.008 0 0 0 0 0 25 237122 chr9 134367636 134367636 A G rs376770973 PRRC2B Synonymous SNV P2154P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.867 237123 chr1 12837493 12837493 C T rs143030822 PRAMEF12 Synonymous SNV V401V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 237124 chr22 41914531 41914531 C T rs140823998 ACO2 Synonymous SNV D329D 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Likely benign 15.25 237125 chr16 84651135 84651135 C T rs764533632 COTL1 Synonymous SNV E44E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 237126 chr2 206882440 206882440 A G rs185379040 INO80D Synonymous SNV H502H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 5.788 237127 chr16 88505381 88505381 G A rs574550673 ZNF469 Nonsynonymous SNV G3835R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 237128 chr1 150115084 150115084 G C VPS45 Nonsynonymous SNV S460T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.035 237129 chr9 136905305 136905307 CTC - BRD3 E498del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 237130 chr9 138651612 138651612 C T rs144766991 KCNT1 Synonymous SNV T269T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.99 237131 chr7 44112896 44112896 G A rs146318307 POLM Nonsynonymous SNV T431M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.86 237132 chr7 44746906 44746906 C T rs748835257 OGDH Synonymous SNV T901T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.5 237133 chr16 89264945 89264945 C G rs559281721 SLC22A31 Synonymous SNV L186L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.069 237134 chr2 216230238 216230238 C A FN1 Nonsynonymous SNV K2172N 0 0 0 2 0 0 0.005 0 0 0 0 0 28 237135 chr16 88873499 88873499 C T rs773673217 CDT1 Nonsynonymous SNV A388V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.768 237136 chr16 88873512 88873512 C T rs143599393 CDT1 Synonymous SNV P392P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.79 237137 chr1 153520966 153520966 A T rs375847324 LOC101928034 0 0 0 1 0 0 0.003 0 0 0 0 0 2.827 237138 chr17 10350433 10350433 A G rs372233194 MYH4 Nonsynonymous SNV V1689A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 237139 chr16 89199605 89199605 G C rs137995833 ACSF3 Nonsynonymous SNV R169P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.6 237140 chr6 46977492 46977492 G A rs144411523 ADGRF1 Nonsynonymous SNV T560M 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 237141 chr17 12877578 12877578 G A rs906465155 ARHGAP44 Nonsynonymous SNV A366T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 237142 chr16 89920928 89920928 C T SPIRE2 Nonsynonymous SNV R254C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 237143 chr1 155179092 155179092 C G MTX1 Nonsynonymous SNV P166R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 237144 chr16 90038237 90038237 G A rs367596729 CENPBD1 Stop gain R32X 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 237145 chr6 54002092 54002092 C A MLIP Nonsynonymous SNV P398T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.801 237146 chr17 17070075 17070075 A G rs561188836 MPRIP Nonsynonymous SNV M1756V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 237147 chr1 156851325 156851325 G A rs201891311 NTRK1 Nonsynonymous SNV R755Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 237148 chr17 18025254 18025254 C G rs77565048 MYO15A Nonsynonymous SNV P1047R 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 Conflicting interpretations of pathogenicity 10.71 237149 chr17 18193904 18193904 C T TOP3A Nonsynonymous SNV D427N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 237150 chr1 158225803 158225803 A G CD1A Nonsynonymous SNV E101G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 237151 chr17 2323565 2323565 G A METTL16 Nonsynonymous SNV T463M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 237152 chr17 3716522 3716522 G A rs150823884 NCBP3 Nonsynonymous SNV T560M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.01 237153 chr17 3839726 3839732 GGGCTTC - ATP2A3 Stop gain E785* 0 0 0 1 0 0 0.003 0 0 0 0 0 237154 chr3 121345540 121345540 A G FBXO40 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.2 237155 chr7 87022075 87022075 C T rs371451136 CROT Nonsynonymous SNV L512F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 237156 chr17 26554486 26554486 C G rs768941042 PYY2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.835 237157 chr2 121712984 121712984 C T rs767227926 GLI2 Synonymous SNV H82H 0 0 0 3 0 0 0.008 0 0 0 0 0 15 237158 chr7 88423504 88423504 T A rs111812085 TEX47 Synonymous SNV S251S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.188 237159 chr17 4721822 4721822 G A PLD2 Synonymous SNV L681L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.01 237160 chr17 27015219 27015219 G A rs779522195 SUPT6H Synonymous SNV T1039T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 237161 chr7 91752476 91752476 T C rs149276890 CYP51A1 Synonymous SNV K348K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.25 237162 chr7 91843242 91843242 T C rs145605400 KRIT1 Synonymous SNV A546A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.859 237163 chr1 161205674 161205674 C G rs755856811 NR1I3 Nonsynonymous SNV R38S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 237164 chr2 239039435 239039435 C A ESPNL Nonsynonymous SNV P326T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.349 237165 chr1 161476161 161476161 G A rs553243113 FCGR2A Synonymous SNV P48P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.92 237166 chr17 5292191 5292191 G A rs1806229 NUP88 Nonsynonymous SNV T525I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.3 237167 chr17 5292275 5292275 G A rs1806230 NUP88 Nonsynonymous SNV T497I 0 0 0 1 0 0 0.003 0 0 0 0 0 28 237168 chr3 124281690 124281690 C T rs186739814 KALRN Nonsynonymous SNV L1644F 0.003 0.005 0.003 1 4 2 0.003 1 0 0 0 0 24.1 237169 chr17 5456828 5456828 G A rs144773865 NLRP1 Synonymous SNV S802S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.07 237170 chr17 3214299 3214299 G A rs61734049 OR3A4P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.685 237171 chr17 32647346 32647346 C T CCL8 Synonymous SNV I45I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.021 237172 chr17 6515452 6515452 A G rs114740991 KIAA0753 Synonymous SNV D145D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.014 237173 chr1 165175261 165175261 G A LMX1A Synonymous SNV N276N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.582 237174 chr17 6901839 6901839 G C rs145526271 ALOX12 Nonsynonymous SNV G117R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.43 237175 chr9 79320918 79320918 G A rs184351514 PRUNE2 Nonsynonymous SNV T2091M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.7 237176 chr17 6904998 6904998 A C rs140313041 ALOX12 Synonymous SNV A343A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.923 237177 chr9 8437199 8437199 T G rs190764618 PTPRD Synonymous SNV S922S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.37 237178 chr3 126707765 126707765 G A rs151164953 PLXNA1 Nonsynonymous SNV S110N 0.005 0.005 0.003 0 6 2 0 1 0 0 0 0 0.225 237179 chr17 7160183 7160183 C T rs149682847 ELP5 Synonymous SNV S155S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.611 237180 chr17 7416501 7416521 TCACCCAGCTATTCGCCAACG - rs766964491 POLR2A S1740_P1746del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 237181 chr17 7416682 7416682 - GCCG rs763682654 POLR2A Frameshift insertion S1703Dfs*72 0.001 0 0 1 1 0 0.003 0 0 0 0 0 237182 chr2 158156126 158156126 C G GALNT5 Stop gain Y688X 0 0 0 3 0 0 0.008 0 0 0 0 0 36 237183 chr17 7646363 7646363 A G rs199776217 DNAH2 Nonsynonymous SNV T603A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.5 237184 chr9 990869 990869 G A rs534413749 DMRT3 Nonsynonymous SNV R428H 0.002 0 0 0 2 0 0 0 0 0 0 0 26 237185 chr3 132403464 132403464 T C rs371505908 NPHP3 Synonymous SNV A1168A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.062 237186 chr20 44856232 44856232 C T rs201047090 CDH22 Synonymous SNV A195A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.88 237187 chr3 12977267 12977267 G C rs753189267 IQSEC1 Nonsynonymous SNV P417A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 237188 chr2 170060647 170060647 C T rs534858438 LRP2 Nonsynonymous SNV R2617Q 0 0 0 3 0 0 0.008 0 0 0 0 0 34 237189 chr3 138417750 138417750 T A rs749726636 PIK3CB Nonsynonymous SNV Q102L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 31 237190 chr1 179989425 179989425 T C rs780210944 CEP350 Nonsynonymous SNV I839T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 237191 chr17 39383086 39383086 C A rs533247129 KRTAP9-2 Synonymous SNV T60T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 237192 chr1 180905459 180905459 G C KIAA1614 Nonsynonymous SNV G805A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 237193 chr17 17062065 17062065 C G rs138508481 MPRIP Nonsynonymous SNV L749V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.529 237194 chr1 181689974 181689974 A G CACNA1E Nonsynonymous SNV I647V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 237195 chrX 153031719 153031719 G A rs12009053 PLXNB3 Synonymous SNV L18L 0.005 0 0 2 6 0 0.005 0 2 0 0 1 1.443 237196 chrX 153032699 153032699 G A rs111247447 PLXNB3 Synonymous SNV V139V 0.005 0 0 2 6 0 0.005 0 2 0 0 1 Benign 4.959 237197 chrX 153032762 153032762 C T rs112274376 PLXNB3 Synonymous SNV D160D 0.005 0 0 2 6 0 0.005 0 2 0 0 1 Benign 12.1 237198 chrX 153036971 153036971 C T rs138935872 PLXNB3 Nonsynonymous SNV P793L 0.007 0 0.003 2 8 0 0.005 1 3 0 0 1 Benign 22 237199 chr7 151873595 151873595 A G rs150519030 KMT2C Synonymous SNV H2981H 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 0.033 237200 chrX 153069060 153069060 G A PDZD4 Synonymous SNV I577I 0.004 0 0 0 5 0 0 0 2 0 0 0 0.217 237201 chr3 149245631 149245631 G A WWTR1 Synonymous SNV F299F 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 12.98 237202 chr17 18137391 18137391 C T rs774743121 LLGL1 Nonsynonymous SNV R206W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 237203 chr2 179593312 179593312 - A TTN Frameshift insertion M5204Nfs*15 0 0 0 3 0 0 0.008 0 0 0 0 0 237204 chrX 153689942 153689942 C T rs782760823 PLXNA3 Synonymous SNV P366P 0.007 0 0.003 0 8 0 0 1 3 0 0 0 9.548 237205 chr17 39672184 39672184 G A rs149918613 KRT15 Nonsynonymous SNV R327C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 237206 chr17 19480808 19480808 G A rs201778540 SLC47A1 Nonsynonymous SNV G552E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.51 237207 chr1 186275969 186275992 CTGCACCCACCACCCCCAAGGAGC - PRG4 P244_T251del 0 0 0 1 0 0 0.003 0 0 0 0 0 237208 chr17 40001580 40001580 T C rs61752339 KLHL10 Nonsynonymous SNV I208T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 237209 chr2 182757376 182757376 C G rs376832280 ITPRID2 Synonymous SNV L82L 0 0 0 3 0 0 0.008 0 0 0 0 0 13.12 237210 chr17 41977878 41977878 A T rs761572315 MPP2 Nonsynonymous SNV S15T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 237211 chr3 171087468 171087468 C T rs1047874623 TNIK Nonsynonymous SNV A22T 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.9 237212 chr7 119914884 119914884 A T KCND2 Synonymous SNV L66L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 237213 chrX 49845262 49845262 C T rs782050861 CLCN5 Synonymous SNV A135A 0.003 0 0 0 3 0 0 0 1 0 0 0 16.79 237214 chrX 51638306 51638306 C T rs782818810 MAGED1 Nonsynonymous SNV S68L 0.003 0 0 0 3 0 0 0 1 0 0 0 14.06 237215 chr17 43318972 43318972 C T FMNL1 Nonsynonymous SNV P519L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 237216 chr17 27620990 27620992 GCT - rs779422167 NUFIP2 Q29del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 237217 chrX 67940246 67940246 G A rs141112921 STARD8 Nonsynonymous SNV R597H 0.005 0 0.007 0 6 0 0 2 1 0 1 0 25.8 237218 chr7 123516943 123516943 G A rs139736892 HYAL4 Nonsynonymous SNV A394T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 3.039 237219 chr2 197791275 197791275 G C PGAP1 Synonymous SNV T22T 0 0 0 3 0 0 0.008 0 0 0 0 0 6.947 237220 chr1 201177306 201177306 A C rs563169996 IGFN1 Synonymous SNV G1095G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.051 237221 chr8 144733623 144733623 A G ZNF623 Synonymous SNV V527V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.091 237222 chr17 33259409 33259409 C A rs138240030 CCT6B Nonsynonymous SNV D405Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 237223 chrX 77150921 77150921 C T rs374235131 MAGT1 Nonsynonymous SNV G28E 0.003 0 0 0 3 0 0 0 1 0 0 0 8.123 237224 chr1 201282402 201282402 G A rs200423351 PKP1 Nonsynonymous SNV G139S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.105 237225 chr2 202357871 202357871 C T rs199715740 C2CD6 Nonsynonymous SNV E1065K 0 0 0 3 0 0 0.008 0 0 0 0 0 0.875 237226 chr2 203624054 203624054 G A FAM117B Nonsynonymous SNV V477I 0 0 0 3 0 0 0.008 0 0 0 0 0 25.7 237227 chr1 203453233 203453233 C T rs370818372 PRELP Synonymous SNV P307P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.579 237228 chr7 4002399 4002399 C T rs371065564 SDK1 Nonsynonymous SNV R449C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 237229 chr17 48696099 48696099 G A rs375464264 CACNA1G Synonymous SNV T1803T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 237230 chr1 204394809 204394809 G A rs546949370 PIK3C2B Nonsynonymous SNV P1550S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 237231 chr17 37886503 37886503 C G rs150225861 MIEN1 Nonsynonymous SNV S44T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 20.9 237232 chr17 38062509 38062509 G A rs141418331 GSDMB Nonsynonymous SNV S226L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 8.226 237233 chr7 44555421 44555421 G A rs115281590 NPC1L1 Synonymous SNV P1259P 0.003 0 0 3 3 0 0.008 0 0 0 0 0 9.354 237234 chr17 38638644 38638644 C T rs140998686 TNS4 Nonsynonymous SNV R509Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 237235 chr1 20641002 20641002 G T rs61743876 VWA5B1 Nonsynonymous SNV R160S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.83 237236 chr17 56429722 56429722 C T TSPOAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.908 237237 chr3 194146087 194146087 T G ATP13A3 Nonsynonymous SNV Q1099H 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 24.9 237238 chr3 194331662 194331662 T C TMEM44 Nonsynonymous SNV I334V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.96 237239 chr17 62144222 62144222 C T rs16947420 ERN1 Synonymous SNV L217L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 237240 chr17 64026113 64026113 C T rs369403378 CEP112 Nonsynonymous SNV R374H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 237241 chr1 22207001 22207001 G C rs746782811 HSPG2 Nonsynonymous SNV Q685E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 237242 chr1 222705379 222705379 G A rs139893102 HHIPL2 Nonsynonymous SNV T551M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.794 237243 chr17 41106905 41106905 A G rs150010039 AARSD1, PTGES3L-AARSD1 Nonsynonymous SNV V314A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.07 237244 chr8 23538779 23538779 G C NKX3-1 Stop gain Y220X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 237245 chr8 23540204 23540204 T C NKX3-1 Nonsynonymous SNV S67G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.068 237246 chr2 227860226 227860226 C T rs543937511 RHBDD1 Synonymous SNV F312F 0 0 0 2 0 0 0.005 0 0 0 0 0 14.5 237247 chr17 41959849 41959849 G A MPP2 Synonymous SNV L151L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.62 237248 chr17 41977887 41977887 C T MPP2 Nonsynonymous SNV E12K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 237249 chr17 72339209 72339209 C T rs145969437 KIF19 Synonymous SNV G122G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.811 237250 chr17 42293034 42293034 C T rs375532870 UBTF Synonymous SNV P154P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.71 237251 chr8 27987111 27987111 C A rs752263926 ELP3 Nonsynonymous SNV T118N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.13 237252 chr17 72999480 72999480 - TGGAGGCCTGTCGCCTGCGTGTGCAGGAGC CDR2L A249_E250insCRLRVQELEA 0 0 0.003 0 0 0 0 1 0 0 0 0 237253 chr17 73000034 73000034 C G rs118188471 CDR2L Nonsynonymous SNV H421Q 0 0 0.01 0 0 0 0 3 0 0 0 0 11.07 237254 chr8 28907724 28907724 - A HMBOX1 Frameshift insertion T377Nfs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 237255 chr8 28908632 28908632 G A rs764468972 HMBOX1 Nonsynonymous SNV G408E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.619 237256 chr8 30695152 30695152 G A TEX15 Nonsynonymous SNV T2883I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.29 237257 chr17 48194779 48194779 T A rs754793877 SAMD14 Nonsynonymous SNV H164L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.09 237258 chr17 48678432 48678432 G A rs780733290 CACNA1G Nonsynonymous SNV R1248Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 237259 chr8 441647 441647 A G rs976952279 TDRP Synonymous SNV F174F 0 0.005 0 0 0 2 0 0 0 0 0 0 1.031 237260 chr2 238973029 238973029 C G rs750919280 SCLY Nonsynonymous SNV P41A 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 24.4 237261 chr17 7556705 7556705 C T rs749987809 ATP1B2 Synonymous SNV L42L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 237262 chr17 76267943 76267943 A C rs529539548 LINC01993 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 237263 chr1 235505415 235505415 A G rs745839509 GGPS1 Synonymous SNV P23P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.619 237264 chr17 77914767 77914767 G A rs753499717 TBC1D16 Nonsynonymous SNV S357L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 237265 chr10 21805481 21805481 - CCTCCTCCTCCTCCTCTC rs749971978 SKIDA1 E423_E424insGEEEEE 0.001 0.003 0 0 1 1 0 0 0 0 0 0 237266 chr17 78336970 78336970 G A RNF213 Synonymous SNV E3808E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.345 237267 chr22 30733787 30733787 C T rs750172653 SF3A1 Nonsynonymous SNV A615T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 237268 chr7 45003667 45003667 C T rs370778515 MYO1G Nonsynonymous SNV R909Q 0 0.003 0 0 0 1 0 0 0 0 0 0 30 237269 chr17 72764759 72764759 C G rs200658339 SLC9A3R1 Nonsynonymous SNV D347E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 237270 chr3 56601014 56601014 T C rs762818632 CCDC66 Synonymous SNV T216T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.11 237271 chr17 73043519 73043519 T A rs765885772 KCTD2 Synonymous SNV G58G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.748 237272 chr17 73495017 73495017 G A rs143232832 TMEM94 Synonymous SNV T1294T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.84 237273 chr17 73499045 73499045 G A rs199789376 CASKIN2 Nonsynonymous SNV R622C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 237274 chr2 32289031 32289031 C T rs121908515 SPAST Nonsynonymous SNV S44L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign/Likely benign 23.3 237275 chr9 113212346 113212346 T A rs753263716 SVEP1 Nonsynonymous SNV S1366C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 237276 chr1 248402315 248402315 T A rs998146422 OR2M4 Nonsynonymous SNV S29T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.101 237277 chr2 48026120 48026120 C T rs587781983 MSH6 Nonsynonymous SNV T203I 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 237278 chr3 169896726 169896726 T C PHC3 Synonymous SNV E5E 0 0 0 4 0 0 0.01 0 0 0 0 0 7.815 237279 chr3 170078892 170078892 C G rs201881800 SKIL Nonsynonymous SNV T258S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 11.27 237280 chr2 54895523 54895523 C T rs147084588 SPTBN1 Synonymous SNV S2304S 0 0 0 6 0 0 0.015 0 0 0 0 0 7.374 237281 chr8 144695386 144695386 C T rs781536733 TSTA3 Nonsynonymous SNV R303Q 0.002 0 0 0 2 0 0 0 0 0 0 0 16.42 237282 chr1 32150155 32150155 A T COL16A1 Nonsynonymous SNV V710D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.19 237283 chr2 62066947 62066947 G A FAM161A Synonymous SNV L398L 0 0 0.003 3 0 0 0.008 1 0 0 0 0 3.998 237284 chr18 47463680 47463680 C T rs191746501 MYO5B Nonsynonymous SNV V614I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.378 237285 chr2 70906007 70906007 G A rs782798999 ADD2 Synonymous SNV V420V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.2 237286 chr17 79517314 79517314 G A rs139369012 FAAP100 Synonymous SNV C402C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.913 237287 chr17 80282656 80282656 G A rs201556369 SECTM1 Nonsynonymous SNV R69C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.153 237288 chr9 130698883 130698883 A T rs755055369 DPM2 Nonsynonymous SNV Y49N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.9 237289 chr10 86008800 86008800 G A rs548051515 RGR 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.1 237290 chr18 57105354 57105354 T C CCBE1 Nonsynonymous SNV R326G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 237291 chr2 9552522 9552522 T C ITGB1BP1 Nonsynonymous SNV N11S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 237292 chr18 77401923 77401923 C T rs73972703 LOC284241 0 0 0.007 0 0 0 0 2 0 0 0 0 3.889 237293 chr1 47653089 47653089 G T rs200901884 PDZK1IP1 Nonsynonymous SNV N26K 0 0 0 1 0 0 0.003 0 0 0 0 0 3.413 237294 chr1 47717040 47717040 A T STIL Stop gain L1212X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 237295 chr2 98341557 98341557 C T rs199864362 ZAP70 Synonymous SNV G135G 0 0 0 3 0 0 0.008 0 0 0 0 0 12.77 237296 chr9 137674564 137674564 C T rs185912761 COL5A1 Nonsynonymous SNV R828W 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 28 237297 chr18 21526195 21526195 A G LAMA3 Nonsynonymous SNV I1435V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 237298 chr3 113010591 113010591 T C rs555914198 CFAP44 Nonsynonymous SNV N1793S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.15 237299 chr4 5586543 5586543 C T rs145786485 EVC2 Nonsynonymous SNV R875Q 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 11.99 237300 chr18 42533227 42533227 A G SETBP1 Nonsynonymous SNV T1308A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.25 237301 chr19 11462650 11462650 G T CCDC159 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 237302 chr19 1231139 1231139 G A CBARP Nonsynonymous SNV P372L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 237303 chr19 12799098 12799098 C T rs760053064 GNG14 Nonsynonymous SNV T79M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.114 237304 chr3 121388135 121388135 C T rs114155768 GOLGB1 Nonsynonymous SNV R3002H 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24.1 237305 chr1 66713207 66713207 G A rs751520439 PDE4B Nonsynonymous SNV A101T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 237306 chr4 23815410 23815410 G A rs58772979 PPARGC1A Nonsynonymous SNV R439C 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign 23.1 237307 chr8 72987631 72987631 A G rs573376656 TRPA1 Nonsynonymous SNV L5P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 237308 chr4 23815793 23815793 A G rs35437002 PPARGC1A Nonsynonymous SNV L311S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Benign 0.001 237309 chr1 74936883 74936883 - G LRRC53 Frameshift insertion L808Pfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 237310 chr9 34893128 34893128 T G FAM205C Nonsynonymous SNV E91D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.7 237311 chr8 94746804 94746804 C T rs748632742 RBM12B Nonsynonymous SNV R612K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 237312 chr4 25750137 25750137 C T rs17855083 SEL1L3 Synonymous SNV T1068T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.61 237313 chr19 17389740 17389740 G A BABAM1 Synonymous SNV L216L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 237314 chr19 17389741 17389741 C T BABAM1 Nonsynonymous SNV H217Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 237315 chr3 129292562 129292562 G A rs57901044 PLXND1 Synonymous SNV D904D 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 6.99 237316 chr9 5185381 5185381 G C rs114386854 INSL6 Synonymous SNV A74A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.036 237317 chr19 17844022 17844022 G A rs115190271 MAP1S Nonsynonymous SNV G911R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 237318 chr19 1784823 1784823 C T rs745356280 ATP8B3 Nonsynonymous SNV A1182T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.348 237319 chr9 5770253 5770253 C A rs74764359 RIC1 Synonymous SNV A1160A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.28 237320 chr3 133362063 133362063 C T TOPBP1 Nonsynonymous SNV A663T 0 0 0 4 0 0 0.01 0 0 0 0 0 31 237321 chr1 89729439 89729439 C T rs143662900 GBP5 Nonsynonymous SNV E448K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.16 237322 chr19 18547278 18547278 G A ISYNA1 Synonymous SNV I79I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 237323 chr1 9085041 9085041 C T rs149907833 SLC2A7 Synonymous SNV P48P 0 0 0 2 0 0 0.005 0 0 0 0 0 16.61 237324 chr9 75533691 75533691 C T rs780724154 ALDH1A1 Synonymous SNV R265R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.09 237325 chr11 11977548 11977548 G A USP47 Nonsynonymous SNV G1224E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.24 237326 chr19 20229662 20229662 C T rs782544300 ZNF90 Synonymous SNV V433V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.645 237327 chr11 123598290 123598290 G A rs757176580 ZNF202 Synonymous SNV P58P 0 0.005 0 0 0 2 0 0 0 0 0 0 9.558 237328 chr19 2253655 2253655 C T rs201363415 JSRP1 Nonsynonymous SNV V134M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 237329 chr19 33268067 33268067 G C TDRD12 Nonsynonymous SNV Q351H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 237330 chr9 96024371 96024371 G A rs55705104 WNK2 Synonymous SNV T1114T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.52 237331 chr9 96051839 96051839 C A rs7855532 WNK2 Nonsynonymous SNV D1601E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.675 237332 chr10 121203194 121203194 G A rs143962659 GRK5 Nonsynonymous SNV R399H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 237333 chr9 97365733 97365733 G A rs770871660 FBP1 Nonsynonymous SNV P316L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 237334 chr19 34263171 34263171 A G rs745508330 CHST8 Nonsynonymous SNV M160V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 237335 chrX 100748324 100748324 G C rs149021828 ARMCX4 Nonsynonymous SNV G1583A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.829 237336 chrX 106110034 106110034 G A rs142730643 TBC1D8B Nonsynonymous SNV M890I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 237337 chr19 35622887 35622887 G A rs528007373 LGI4 Nonsynonymous SNV S125L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 237338 chr20 19981393 19981393 A T rs183141566 RIN2 Nonsynonymous SNV Y834F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 237339 chr19 4216640 4216640 G A rs373345481 ANKRD24 Nonsynonymous SNV E495K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 237340 chrX 118151619 118151619 G A LONRF3 Nonsynonymous SNV R708Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 237341 chr3 172477960 172477960 A C rs200619925 ECT2 Synonymous SNV T166T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.821 237342 chr11 128354767 128354767 T C rs776012398 ETS1 Synonymous SNV K227K 0 0.005 0 0 0 2 0 0 0 0 0 0 1.156 237343 chr8 35541225 35541225 C T UNC5D Nonsynonymous SNV S239L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.2 237344 chrX 129813680 129813680 T C ENOX2 Nonsynonymous SNV K99R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 237345 chr19 4548164 4548164 G A rs543932524 SEMA6B Synonymous SNV G492G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.61 237346 chr11 14990521 14990521 G A rs118030281 CALCA Nonsynonymous SNV R84W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 237347 chr19 37734073 37734073 G A rs142759373 ZNF383 Nonsynonymous SNV C312Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27 237348 chr19 37974920 37974920 G C rs769245268 ZNF570 Nonsynonymous SNV E90D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 237349 chr4 103971449 103971449 C T rs145720714 SLC9B2 Nonsynonymous SNV S121N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 15.23 237350 chr19 38386087 38386087 A G rs753787315 WDR87 Nonsynonymous SNV W86R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 237351 chr20 31549174 31549174 C T EFCAB8 Nonsynonymous SNV A1209V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 237352 chr3 186390615 186390615 G T rs116004251 HRG Nonsynonymous SNV V200L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 13.01 237353 chr3 186395046 186395046 C T rs115876426 HRG Nonsynonymous SNV P318S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 15.67 237354 chr3 186395145 186395145 C A rs115242562 HRG Nonsynonymous SNV P351T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign 8.609 237355 chr10 14867608 14867608 T C rs755477168 CDNF Synonymous SNV L85L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.73 237356 chrX 152815655 152815655 G A ATP2B3 Synonymous SNV S578S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 237357 chr19 40520372 40520372 T C ZNF546 Nonsynonymous SNV Y373H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 237358 chr19 7680378 7680378 C A CAMSAP3 Nonsynonymous SNV A962D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 237359 chr19 7807996 7807996 C A rs11465393 CD209 Nonsynonymous SNV A246S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.131 237360 chr19 7987377 7987377 C G rs749386262 SNAPC2 Nonsynonymous SNV P245A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 237361 chr4 84518623 84518623 G A rs142007951 GPAT3 Synonymous SNV K317K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.86 237362 chr9 134350178 134350178 C T rs373198606 PRRC2B Nonsynonymous SNV R888W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.81 237363 chrX 15841153 15841153 A G rs766869777 ZRSR2 Nonsynonymous SNV K413E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.97 237364 chr20 36992702 36992702 G A rs2232601 LBP Nonsynonymous SNV M242I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.377 237365 chr20 37252022 37252022 G A rs78155085 ARHGAP40 Nonsynonymous SNV R53Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.943 237366 chr19 44378127 44378127 T C rs765795518 ZNF404 Nonsynonymous SNV N77S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 237367 chr4 140196466 140196466 T C rs145457392 MGARP Nonsynonymous SNV T55A 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 237368 chr20 43438859 43438859 G T RIMS4 Synonymous SNV A18A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.11 237369 chr4 144457813 144457813 C T SMARCA5 Nonsynonymous SNV P493S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 237370 chr19 45916903 45916903 C T rs116640350 ERCC1 Stop gain W268X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.7 237371 chr20 48552973 48552973 C T rs747764546 RNF114 Synonymous SNV C8C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 237372 chr10 50732604 50732604 T C ERCC6 Nonsynonymous SNV N291S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 237373 chr20 57035955 57035955 G A rs138379271 APCDD1L Nonsynonymous SNV P466L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.487 237374 chr10 52071170 52071170 G A rs148009940 SGMS1 Synonymous SNV F249F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 237375 chr19 48342845 48342845 C T rs771028537 CRX Nonsynonymous SNV A174V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.65 237376 chr5 132159004 132159004 G A SHROOM1 Nonsynonymous SNV R722C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 35 237377 chr10 103827009 103827009 C G HPS6 Nonsynonymous SNV P593R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 237378 chr5 134191091 134191091 G C C5orf24 Nonsynonymous SNV M167I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.619 237379 chr19 10403781 10403781 C G ICAM5 Nonsynonymous SNV H442D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 237380 chr20 61511206 61511206 C T DIDO1 Synonymous SNV P2034P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.74 237381 chr20 61513649 61513649 G A rs6011441 DIDO1 Nonsynonymous SNV P1220L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.903 237382 chr20 61909549 61909549 A G rs752737317 ARFGAP1 Nonsynonymous SNV Y122C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 237383 chr19 14557323 14557323 C T rs759249010 PKN1 Nonsynonymous SNV A187V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 237384 chr3 52415732 52415732 T A rs762646019 DNAH1 Nonsynonymous SNV M2562K 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 237385 chr21 30699452 30699452 C T rs199690512 BACH1 Nonsynonymous SNV P436L 0 0 0 2 0 0 0.005 0 0 0 0 0 31 237386 chr10 126716082 126716082 T C rs147041812 CTBP2 Nonsynonymous SNV K83E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 237387 chr21 33719530 33719530 G A rs762521147 URB1 Synonymous SNV L1201L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.043 237388 chr10 129537020 129537020 T G FOXI2 Nonsynonymous SNV S250A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.24 237389 chr9 88937353 88937353 C T TUT7 Nonsynonymous SNV G972D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 30 237390 chr3 57232812 57232812 C T rs768165720 HESX1 Nonsynonymous SNV R109Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 27.5 237391 chr3 57994565 57994565 A G rs62622011 FLNB Nonsynonymous SNV I92V 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 23.2 237392 chr10 129911817 129911817 C A MKI67 Synonymous SNV G150G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 237393 chr9 94486082 94486082 C G rs141070315 ROR2 Nonsynonymous SNV Q898H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.005 237394 chr9 135271868 135271868 A G rs149329370 TTF1 Nonsynonymous SNV I88T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 237395 chr21 37650373 37650373 G A rs143714922 DOP1B Nonsynonymous SNV R1938H 0.002 0 0 1 2 0 0.003 0 1 0 0 0 Benign 34 237396 chr3 73453408 73453408 G A PDZRN3 Synonymous SNV L51L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.105 237397 chr10 134942875 134942875 C T rs372629527 ADGRA1 Nonsynonymous SNV R418W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 237398 chr5 156635998 156635998 G A rs201403794 ITK Synonymous SNV P79P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.55 237399 chr3 97852297 97852297 T C rs778837535 OR5H1 Synonymous SNV Y252Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 237400 chr21 43259907 43259907 G A rs780888132 PRDM15 Synonymous SNV S269S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.716 237401 chr19 18871035 18871035 C A CRTC1 Nonsynonymous SNV Q295K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 237402 chr19 55685954 55685954 G C rs202177638 SYT5 Nonsynonymous SNV I293M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.8 237403 chr19 55756874 55756874 G A rs202168596 PPP6R1 Nonsynonymous SNV R134C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 237404 chr5 171533653 171533653 G C rs150004028 STK10 Nonsynonymous SNV D253E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 237405 chr21 46930107 46930107 C T rs374880663 COL18A1 Nonsynonymous SNV R1386C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 237406 chr21 46935641 46935641 A G rs140055382 SLC19A1 Synonymous SNV H529H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.154 237407 chr21 47565839 47565839 - C rs398124234 FTCD Frameshift insertion P331Afs*2 0 0.005 0 1 0 2 0.003 0 0 0 0 0 237408 chr11 56468055 56468055 T A rs370123148 OR9G1, OR9G9 Nonsynonymous SNV N64K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.05 237409 chr10 3189776 3189776 G A rs191395257 PITRM1 Synonymous SNV S643S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.206 237410 chr5 178392689 178392689 C T rs753312933 ZNF454 Synonymous SNV A428A 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 4.286 237411 chr22 19217422 19217422 C T rs45489597 CLTCL1 Nonsynonymous SNV R574H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.5 237412 chr19 58198223 58198223 C T rs756885710 ZNF551 Nonsynonymous SNV L166F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 237413 chr11 10552296 10552296 G A rs771510261 RNF141 Nonsynonymous SNV T49M 0 0.005 0 2 0 2 0.005 0 0 0 0 0 25.2 237414 chr9 19296091 19296091 C T rs751736187 DENND4C Nonsynonymous SNV T296M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 237415 chr22 19885591 19885591 G A rs557142042 TXNRD2 Nonsynonymous SNV R249C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.3 237416 chr22 20100254 20100254 T C TRMT2A Synonymous SNV A588A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.924 237417 chrX 51637442 51637442 C T rs781867459 MAGED1 Synonymous SNV F14F 0.004 0.003 0 0 5 1 0 0 2 0 0 0 15.66 237418 chr19 59060780 59060780 C T rs765499008 TRIM28 Nonsynonymous SNV A582V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.87 237419 chr19 36602334 36602334 C T rs781201742 OVOL3 Nonsynonymous SNV A53V 0 0 0 2 0 0 0.005 0 0 0 0 0 9.988 237420 chr4 13603378 13603380 TCA - rs567563291 BOD1L1 M1715del 0 0 0 2 0 0 0.005 0 0 0 0 0 237421 chr19 6953127 6953127 A G rs73490639 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.33 237422 chr19 7447680 7447680 G A rs545108657 ARHGEF18 Nonsynonymous SNV S242N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 237423 chr19 37880145 37880145 T C rs753957918 ZNF527 Synonymous SNV S398S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.82 237424 chr19 37975627 37975627 G A ZNF570 Nonsynonymous SNV S326N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 237425 chr4 143081652 143081652 G A rs139889427 INPP4B Synonymous SNV Y474Y 0 0 0 3 0 0 0.008 0 0 0 0 0 0.126 237426 chr19 38573333 38573333 C T rs61729132 SIPA1L3 Synonymous SNV S376S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.59 237427 chr19 38865389 38865389 C T rs575111246 PSMD8 Nonsynonymous SNV R50C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 237428 chr22 27456268 27456268 C T LOC284898 Synonymous SNV A17A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 237429 chr22 29121051 29121051 A G CHEK2 Nonsynonymous SNV F169S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.7 237430 chr10 102737423 102737423 G A rs749056930 SEMA4G Nonsynonymous SNV R124Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.3 237431 chr22 30144473 30144473 G A rs778718599 ZMAT5 Nonsynonymous SNV R21C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 237432 chr11 118343383 118343383 G C rs374716873 KMT2A Synonymous SNV R503R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 237433 chr11 118373862 118373862 G A rs782181274 KMT2A Nonsynonymous SNV E2419K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 237434 chr19 39915602 39915602 C G PLEKHG2 Nonsynonymous SNV L1277V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 237435 chr11 118498834 118498834 G A rs141245340 PHLDB1 Nonsynonymous SNV G432E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.01 237436 chr19 40520217 40520217 A C rs115050037 ZNF546 Nonsynonymous SNV H321P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 237437 chr19 40541604 40541604 G T rs114702355 ZNF780B Nonsynonymous SNV P388T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.57 237438 chr4 15842075 15842075 A G CD38 Synonymous SNV R251R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.052 237439 chr19 41072100 41072100 G A rs113875755 SPTBN4 Synonymous SNV A2057A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.75 237440 chr10 61833684 61833684 C T rs140463162 ANK3 Nonsynonymous SNV D2319N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 28.2 237441 chr19 41765575 41765575 C T rs61737386 AXL Synonymous SNV D549D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.26 237442 chr19 9057936 9057936 G A rs192043112 MUC16 Nonsynonymous SNV T9837I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.324 237443 chr22 39908345 39908345 G A rs777054252 MIEF1 Nonsynonymous SNV R144Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 237444 chrX 100658816 100658816 G A rs148158093 GLA Nonsynonymous SNV R118C 0 0.005 0 2 0 2 0.005 0 0 1 0 1 Conflicting interpretations of pathogenicity 28.4 237445 chr11 124955869 124955869 A G rs754301045 SLC37A2 Nonsynonymous SNV Y482C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 237446 chr4 187075773 187075773 G A rs771218181 FAM149A Nonsynonymous SNV A122T 0 0 0 2 0 0 0.005 0 0 0 0 0 29.2 237447 chr5 74931613 74931613 G A ANKDD1B Nonsynonymous SNV G235E 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 23 237448 chr1 1007567 1007567 G A rs757668544 RNF223 Nonsynonymous SNV A127V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.438 237449 chr11 125708294 125708294 G A rs199545061 PATE4 Nonsynonymous SNV C90Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.487 237450 chr4 187175812 187175812 C T rs768849619 KLKB1 Nonsynonymous SNV P462S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.248 237451 chr4 187539783 187539783 C T rs200149452 FAT1 Nonsynonymous SNV G2653S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 237452 chr4 187542754 187542754 G A rs367779643 FAT1 Synonymous SNV N1662N 0 0 0 2 0 0 0.005 0 0 0 0 0 5.773 237453 chr22 44031067 44031067 G A rs781536986 EFCAB6 Synonymous SNV D519D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.467 237454 chr10 124399645 124399645 C T rs147956447 DMBT1 Synonymous SNV H1587H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.3 237455 chr19 46308214 46308214 C T rs532215300 RSPH6A Nonsynonymous SNV G317S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 237456 chr1 109857384 109857384 G T rs770388154 SORT1 Nonsynonymous SNV S619Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 237457 chr10 86259632 86259632 G A CCSER2 Nonsynonymous SNV G203D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 237458 chrX 135313943 135313943 T C rs201910412 MAP7D3 Synonymous SNV E356E 0 0.005 0.003 0 0 2 0 1 0 1 0 0 0.02 237459 chr22 46654730 46654730 A C PKDREJ Nonsynonymous SNV V1497G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.603 237460 chr11 67021058 67021058 C G KDM2A Nonsynonymous SNV L584V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 237461 chr1 112020013 112020013 A T rs556216779 C1orf162 Synonymous SNV I55I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 237462 chr19 48807210 48807210 C T rs147718607 CCDC114 Nonsynonymous SNV A248T 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 11.54 237463 chr1 115252280 115252280 C T rs143020946 NRAS Synonymous SNV L120L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.14 237464 chr10 98408570 98408570 G A rs776888722 PIK3AP1 Nonsynonymous SNV A344V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 237465 chr1 118642320 118642320 G A rs201908158 SPAG17 Synonymous SNV S246S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 237466 chr10 99640110 99640110 C T rs144857552 CRTAC1 Nonsynonymous SNV R572Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 237467 chr19 50265297 50265297 G A rs1043242051 TSKS Synonymous SNV P121P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.582 237468 chr1 150526860 150526860 C A rs773514905 ADAMTSL4 Nonsynonymous SNV P384Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 237469 chr1 151502436 151502436 G T rs764933240 CGN Nonsynonymous SNV A720S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 237470 chr5 160018113 160018113 C A ATP10B Nonsynonymous SNV V1200L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 237471 chr5 160049404 160049404 - T ATP10B Frameshift insertion R604Efs*41 0.001 0 0 2 1 0 0.005 0 0 0 0 0 237472 chr4 62598959 62598959 C T rs368860035 ADGRL3 Synonymous SNV T289T 0 0 0 3 0 0 0.008 0 0 0 0 0 9.163 237473 chr5 167995694 167995694 G T PANK3 Nonsynonymous SNV A113D 0 0 0 2 0 0 0.005 0 0 0 0 0 29.8 237474 chr6 127768072 127768072 G C rs200170150 KIAA0408 Nonsynonymous SNV S464R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.47 237475 chr19 52660667 52660667 T C ZNF836 Nonsynonymous SNV E90G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.78 237476 chr4 68504710 68504710 C T UBA6 Nonsynonymous SNV V563I 0 0 0 2 0 0 0.005 0 0 0 0 0 9.124 237477 chr1 154931669 154931671 AGT - rs755505209 PYGO2 T269del 0 0 0.003 0 0 0 0 1 0 0 0 0 237478 chr2 121995230 121995230 C T rs772260501 TFCP2L1 Synonymous SNV S324S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.92 237479 chr11 85396990 85396990 C T rs776756785 CCDC89 Nonsynonymous SNV E62K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 237480 chr1 156047018 156047018 A G rs867759747 MEX3A Nonsynonymous SNV F304L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 237481 chr19 53311226 53311226 A C rs780594494 ZNF28 Nonsynonymous SNV V59G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.609 237482 chr10 105141492 105141492 G C rs143908412 TAF5 Synonymous SNV V476V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.92 237483 chr1 156552023 156552023 G A rs757423705 TTC24 Nonsynonymous SNV G236E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 237484 chr11 108106547 108106547 A C rs587780625 ATM Nonsynonymous SNV Q161P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.01 237485 chr11 108384547 108384547 T C rs763248592 EXPH5 Nonsynonymous SNV M375V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 237486 chr1 156821756 156821756 G A rs780742282 INSRR Nonsynonymous SNV R289C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 237487 chr11 46329485 46329485 G A rs369868337 CREB3L1 Synonymous SNV A150A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.29 237488 chr19 53856771 53856771 G A rs755514979 ZNF845 Nonsynonymous SNV C948Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24 237489 chr11 110451272 110451272 C T ARHGAP20 Nonsynonymous SNV A777T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.15 237490 chr10 47087094 47087094 T A NPY4R, NPY4R2 Nonsynonymous SNV M104K 0 0.005 0 0 0 2 0 0 0 0 0 0 25 237491 chr19 54974728 54974728 C A LENG9 Synonymous SNV A16A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.66 237492 chr4 80898851 80898851 C T rs761016397 ANTXR2 Nonsynonymous SNV R451H 0 0 0 3 0 0 0.008 0 0 0 0 0 26.7 237493 chr4 83381222 83381222 C T rs771253652 ENOPH1 Synonymous SNV Y157Y 0 0 0 2 0 0 0.005 0 0 0 0 0 13.36 237494 chr4 84337923 84337923 T A rs752466353 HELQ Nonsynonymous SNV L986F 0 0 0 3 0 0 0.008 0 0 0 0 0 19.26 237495 chr1 160262284 160262284 T A COPA Nonsynonymous SNV N993Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 237496 chr2 16080806 16080806 C T rs188129461 MYCN Nonsynonymous SNV P33L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 16.62 237497 chr11 117985577 117985577 A G TMPRSS4 Nonsynonymous SNV D275G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 237498 chr11 119215379 119215379 G A rs140710522 MFRP Synonymous SNV D287D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.924 237499 chr2 168106144 168106144 T A rs200038241 XIRP2 Nonsynonymous SNV Y2526N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.539 237500 chr2 170387180 170387180 G T rs1043527812 FASTKD1 Nonsynonymous SNV L721I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 237501 chr10 70892743 70892743 T C rs61741958 VPS26A Synonymous SNV T31T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.325 237502 chr10 70940314 70940314 C T rs35392688 SUPV3L1 Synonymous SNV D89D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.27 237503 chr10 70962261 70962261 C T rs35591164 SUPV3L1 Synonymous SNV L200L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.75 237504 chr11 123596907 123596907 T C ZNF202 Nonsynonymous SNV K358R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.824 237505 chr2 172379181 172379181 G T CYBRD1 Synonymous SNV G42G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.331 237506 chr19 57175128 57175128 C T ZNF835 Nonsynonymous SNV G480E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 237507 chr19 57328017 57328017 C T rs767339103 PEG3 Nonsynonymous SNV R443H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.07 237508 chr2 175201181 175201181 C G SP9 Nonsynonymous SNV S123C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 237509 chr19 57743438 57743438 C - rs397515619 AURKC L49Wfs*23 0 0 0 2 0 0 0.005 0 0 0 0 0 237510 chr2 178096283 178096283 T G rs779519592 NFE2L2 Nonsynonymous SNV T320P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.71 237511 chr2 179399237 179399237 A T rs370647845 TTN Nonsynonymous SNV D24970E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.34 237512 chr2 179443798 179443798 A T rs72646877 TTN Nonsynonymous SNV F13588L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 237513 chr2 179453287 179453287 C T rs72646852 TTN Synonymous SNV P11990P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.6 237514 chr2 179486733 179486733 A T rs373390402 TTN Synonymous SNV V5907V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.15 237515 chr11 125324086 125324086 G C rs139178115 FEZ1 Nonsynonymous SNV I320M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 237516 chr19 58850333 58850333 G T rs148862613 ZSCAN22 Nonsynonymous SNV V373L 0 0 0 3 0 0 0.008 0 0 0 0 0 23.3 237517 chr2 180842959 180842959 A C rs201915208 CWC22 Nonsynonymous SNV I180S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 237518 chr1 179886999 179886999 A G TOR1AIP1 Synonymous SNV L460L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.723 237519 chr11 126110933 126110933 C T rs12280636 FAM118B Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.357 237520 chr11 1263741 1263741 T C rs367928700 MUC5B Synonymous SNV L1877L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 237521 chr1 184023541 184023541 G A rs138058406 TSEN15 Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 237522 chr11 130343528 130343528 G A rs772873762 ADAMTS15 Nonsynonymous SNV A889T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.297 237523 chr6 26234571 26234571 C G H1-3 Nonsynonymous SNV K197N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.22 237524 chr5 131722826 131722826 A G rs77300588 SLC22A5 Nonsynonymous SNV I312V 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.02 237525 chr11 134086908 134086908 T G rs200432850 NCAPD3 Nonsynonymous SNV K102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.492 237526 chr10 26856028 26856028 G A APBB1IP Nonsynonymous SNV A538T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 237527 chr11 17741391 17741391 G C rs141150723 MYOD1 Nonsynonymous SNV C21S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 237528 chr2 1946896 1946896 G A rs977030395 MYT1L Synonymous SNV D121D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.16 237529 chr5 137295355 137295355 C T rs143039826 FAM13B Nonsynonymous SNV S346N 0 0 0 2 0 0 0.005 0 0 0 0 0 11.41 237530 chr10 30315915 30315915 G A rs747184647 JCAD Synonymous SNV T1054T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.66 237531 chr1 201178758 201178758 G C rs113788027 IGFN1 Synonymous SNV G1579G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.359 237532 chr11 20429574 20429574 A T rs144295044 PRMT3 Nonsynonymous SNV I235L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 237533 chr10 45938964 45938964 A T rs761032132 ALOX5 Nonsynonymous SNV M518L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.4 237534 chr2 211301100 211301100 T A rs147390013 LANCL1 Nonsynonymous SNV K297M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 237535 chr5 140768676 140768676 G A rs144915863 PCDHGB4 Nonsynonymous SNV D409N 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 26.4 237536 chr11 3239177 3239177 T C MRGPRG Synonymous SNV L289L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 237537 chr2 216189977 216189977 A C ATIC Nonsynonymous SNV N102H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 237538 chr2 217279767 217279767 C G rs202031614 SMARCAL1 Nonsynonymous SNV R114G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.371 237539 chr20 33449288 33449288 G C GGT7 Nonsynonymous SNV A212G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.12 237540 chr11 56237578 56237578 A G rs61902881 OR5M3 Synonymous SNV S132S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.013 237541 chr5 1432686 1432686 G A rs28364996 SLC6A3 Synonymous SNV N182N 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 7.827 237542 chr6 84630830 84630830 T C rs141934862 CYB5R4 Synonymous SNV D198D 0 0 0 2 0 0 0.005 0 0 0 0 0 3.576 237543 chr1 215844615 215844615 G A rs376077079 USH2A Nonsynonymous SNV A4611V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 237544 chr11 397054 397054 C T rs151265573 PKP3 Nonsynonymous SNV R185W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 237545 chr20 36767958 36767958 C T rs370820498 TGM2 Nonsynonymous SNV D319N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 237546 chr5 148386588 148386588 G A rs747405272 SH3TC2 Synonymous SNV Y1177Y 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 1.824 237547 chr10 70332891 70332891 C A TET1 Nonsynonymous SNV P266T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 237548 chr20 43093852 43093852 G T rs41282032 LINC01620 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 237549 chr11 46880580 46880580 G A rs372637156 LRP4 Nonsynonymous SNV T1891M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 237550 chr5 149677245 149677245 G A rs148519839 ARSI Synonymous SNV A414A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 5.636 237551 chr20 43723631 43723631 G A rs576896465 KCNS1 Synonymous SNV S487S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.735 237552 chr20 43837068 43837068 A C SEMG1 Nonsynonymous SNV Q377P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 237553 chr2 223168886 223168886 G A rs143457102 CCDC140 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 237554 chr1 226829794 226829794 C T rs200031424 ITPKB Nonsynonymous SNV R760Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 237555 chr1 228460994 228460994 A G OBSCN Nonsynonymous SNV K2003R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 237556 chr20 50048783 50048783 G C NFATC2 Nonsynonymous SNV P828R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 237557 chr1 228471287 228471287 C A rs773033634 OBSCN Nonsynonymous SNV H2941N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.131 237558 chr1 231155818 231155818 C G rs201780778 FAM89A Nonsynonymous SNV E116Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 237559 chr5 161927 161927 G A rs116463546 PLEKHG4B Synonymous SNV A839A 0 0 0 3 0 0 0.008 0 0 0 0 0 9.73 237560 chr10 88478536 88478536 C T rs141569007 LDB3 Nonsynonymous SNV A574V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 237561 chr5 16701497 16701497 C T rs72750543 MYO10 Nonsynonymous SNV A1003T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 237562 chr11 118133166 118133166 G A rs370925743 MPZL2 Synonymous SNV S141S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.54 237563 chr11 118869272 118869272 C T CCDC84 Synonymous SNV L85L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 237564 chr20 60903041 60903041 G A rs80097864 LAMA5 Nonsynonymous SNV R1560C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 33 237565 chr5 169015554 169015554 G T rs567074058 SPDL1 Nonsynonymous SNV R45L 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 237566 chr6 90661503 90661503 C T BACH2 Nonsynonymous SNV E108K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 32 237567 chr10 94669195 94669195 C A EXOC6 Nonsynonymous SNV A157D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 237568 chr5 176314204 176314204 G A HK3 Stop gain Q579X 0 0 0 3 0 0 0.008 0 0 0 0 0 36 237569 chr20 62195815 62195815 G A rs145167312 HELZ2 Nonsynonymous SNV R885C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 237570 chr5 176863243 176863243 C A rs774743489 GRK6 Synonymous SNV S199S 0 0 0 3 0 0 0.008 0 0 0 0 0 14.38 237571 chr11 123847992 123847992 C T rs199683540 OR10S1 Nonsynonymous SNV R136H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 237572 chr5 179260701 179260701 G A rs535932454 SQSTM1 Nonsynonymous SNV E362K 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.2 237573 chr2 26688693 26688693 G T OTOF Nonsynonymous SNV A859D 0 0 0 1 0 0 0.003 0 0 0 0 0 32 237574 chr12 57548340 57548340 C T rs147797119 LRP1 Synonymous SNV L361L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.33 237575 chr21 33719498 33719498 G A rs763609132 URB1 Nonsynonymous SNV P1212L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.69 237576 chr2 27448587 27448587 T A CAD Synonymous SNV A545A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 237577 chr2 27804524 27804571 CAGTCCCTCTCAGAGGAGCCATCGTGGTCCCTCTGAGAGAAGACATCA - C2orf16 Q1699_S1714del 0 0 0 1 0 0 0.003 0 0 0 0 0 237578 chr2 27804591 27804686 CATCGCAGTCCCGCTCGGAGGAGCCATCGCAGTCCCTCAGAGAGAAGCCATCACAGTCCCTCTGAGAGAAGCCATCACAGTCCCTCTGAGAGAAGA - C2orf16 R1719_H1750del 0 0 0 1 0 0 0.003 0 0 0 0 0 237579 chr1 2573220 2573220 G C rs561866095 TTC34 Nonsynonymous SNV R943G 0 0 0.007 0 0 0 0 2 0 0 0 0 24 237580 chr1 28833912 28833912 G A rs774966450 SNORA73A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.49 237581 chr11 56185571 56185571 A C OR5R1 Nonsynonymous SNV I46M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 237582 chr2 40656392 40656392 C T rs368593834 SLC8A1 Synonymous SNV E343E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.909 237583 chr2 42515414 42515414 G A EML4 Nonsynonymous SNV M332I 0 0 0 1 0 0 0.003 0 0 0 0 0 23 237584 chr11 111420409 111420409 G A rs74926127 LAYN Synonymous SNV S6S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.46 237585 chr5 5465286 5465286 G A rs772431538 ICE1 Nonsynonymous SNV V1947I 0 0 0 3 0 0 0.008 0 0 0 0 0 24.9 237586 chr21 47538572 47538572 C T rs140027285 COL6A2 Synonymous SNV I387I 0.001 0 0 2 1 0 0.005 0 0 0 0 1 Benign/Likely benign 12.18 237587 chr11 2434114 2434114 T G rs762040638 TRPM5 Nonsynonymous SNV Y742S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 237588 chr2 55130197 55130197 C G EML6 Synonymous SNV A1047A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.56 237589 chr1 38328030 38328030 T G rs561088456 INPP5B Nonsynonymous SNV K736T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 237590 chr1 38328031 38328031 T C rs529874480 INPP5B Nonsynonymous SNV K736E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 237591 chr7 127253521 127253521 G C PAX4 Nonsynonymous SNV P210A 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 24.6 237592 chr2 56420029 56420029 G A CCDC85A Nonsynonymous SNV G232S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 237593 chr11 117781445 117781445 C T rs200978657 TMPRSS13 Nonsynonymous SNV R273Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.776 237594 chr11 2943681 2943681 G A rs148838489 SLC22A18 Nonsynonymous SNV V230I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.17 237595 chr2 62449883 62449883 G C B3GNT2 Synonymous SNV V176V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.891 237596 chr22 21385867 21385867 C T rs374571651 SLC7A4 Nonsynonymous SNV A79T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 237597 chr22 21990767 21990767 C T CCDC116 Nonsynonymous SNV S417F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 237598 chr2 69330047 69330047 C T rs777732873 ANTXR1 Synonymous SNV F259F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 237599 chr22 24087086 24087086 G A rs770635536 ZNF70 Nonsynonymous SNV P81L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.28 237600 chr11 121000760 121000760 T C rs142903119 TECTA Synonymous SNV H927H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.228 237601 chr1 45671593 45671593 C T ZSWIM5 Nonsynonymous SNV G144R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 237602 chr13 103498674 103498674 G A rs761699560 ERCC5 Nonsynonymous SNV E20K 0 0.005 0 0 0 2 0 0 0 0 0 0 33 237603 chr7 31862854 31862854 C T rs751346816 PDE1C Nonsynonymous SNV S472N 0 0 0 2 0 0 0.005 0 0 0 0 0 14.74 237604 chr11 123351544 123351544 A C GRAMD1B Nonsynonymous SNV Q16P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 237605 chr1 52975288 52975288 G A TUT4 Stop gain R327X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 237606 chr1 53358487 53358487 A G ZYG11A Nonsynonymous SNV E371G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.322 237607 chr11 124761368 124761368 C T rs143995311 ROBO4 Nonsynonymous SNV S447N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.509 237608 chr11 124955354 124955354 G A SLC37A2 Nonsynonymous SNV G438S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 237609 chr5 95998172 95998172 C G CAST Nonsynonymous SNV R16G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 237610 chr22 32111197 32111197 C G rs17821493 PRR14L Nonsynonymous SNV M876I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.147 237611 chr11 62416204 62416204 C T rs762228684 INTS5 Nonsynonymous SNV V450I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 237612 chr1 59126851 59126851 A G rs376987710 MYSM1 Synonymous SNV C773C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.305 237613 chr22 32788273 32788273 A G rs145947916 RTCB Nonsynonymous SNV M455T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 237614 chr22 36538053 36538053 G A rs6000152 APOL3 Nonsynonymous SNV A135V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.002 237615 chr11 63992308 63992308 G A rs117480910 TRPT1 Nonsynonymous SNV L98F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.259 237616 chr12 103352180 103352180 - GCA ASCL1 Q62_A63insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 237617 chr3 100119749 100119749 A C rs370075553 TOMM70 Synonymous SNV A15A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 237618 chr6 108067907 108067907 C T rs142985964 SCML4 Nonsynonymous SNV G100D 0 0 0 3 0 0 0.008 0 0 0 0 0 32 237619 chr6 108193025 108193025 C T SEC63 Synonymous SNV V722V 0 0 0 3 0 0 0.008 0 0 0 0 0 12.4 237620 chr22 37678626 37678626 C A rs201176804 CYTH4 Nonsynonymous SNV P6T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 237621 chr1 65310468 65310468 G A rs548872770 JAK1 Synonymous SNV P740P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 237622 chr12 106633570 106633570 G A rs150112073 CKAP4 Synonymous SNV L347L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.01 237623 chr22 38201761 38201761 G A rs150162329 H1-0 Synonymous SNV L70L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.19 237624 chr22 38251649 38251649 A G rs201545819 EIF3L Nonsynonymous SNV N124S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.27 237625 chr11 64880061 64880061 C T rs371186990 TM7SF2 Nonsynonymous SNV R43C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 237626 chr1 67635321 67635321 T G IL23R Nonsynonymous SNV Y123D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 237627 chr1 68904721 68904721 T C rs201075875 RPE65 Nonsynonymous SNV N301S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.885 237628 chr11 16810679 16810679 G A PLEKHA7 Synonymous SNV R1107R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 237629 chr11 65480920 65480920 G A KAT5 Synonymous SNV E162E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.677 237630 chr3 112710005 112710005 A C GTPBP8 Nonsynonymous SNV E53D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.17 237631 chr11 65545471 65545471 T C rs78564889 AP5B1 Synonymous SNV A831A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.647 237632 chr11 65545972 65545972 T C rs115862115 AP5B1 Synonymous SNV V664V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 237633 chr11 65546557 65546557 C T rs79181038 AP5B1 Synonymous SNV S469S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 237634 chr11 65546944 65546944 T C rs75389431 AP5B1 Synonymous SNV T340T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.085 237635 chr11 65562626 65562626 G A rs111316258 OVOL1 Synonymous SNV K206K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.517 237636 chr11 18555876 18555876 C T rs200269677 UEVLD 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 237637 chr7 75221825 75221825 T C HIP1 Nonsynonymous SNV I64M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 237638 chr3 118647521 118647521 G A rs764460197 IGSF11 Nonsynonymous SNV R87W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 237639 chr11 19854068 19854068 C T rs767268073 NAV2 Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 237640 chr3 119379078 119379078 C T rs200871576 POPDC2 Nonsynonymous SNV V65M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 237641 chr11 66297299 66297299 G A rs77298332 BBS1 Nonsynonymous SNV R450Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.8 237642 chr11 66824445 66824445 C T rs774961671 RHOD Synonymous SNV G24G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 237643 chr6 126210596 126210596 G A rs149505195 NCOA7 Nonsynonymous SNV A351T 0 0 0 3 0 0 0.008 0 0 0 0 0 0.004 237644 chr1 91742205 91742205 G A rs145403079 HFM1 Nonsynonymous SNV P1190S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 237645 chr11 68181377 68181377 C G rs143539498 LRP5 Nonsynonymous SNV H327Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.012 237646 chr6 133034987 133034987 G A rs45500693 VNN1 Nonsynonymous SNV A63V 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 26 237647 chr3 123667820 123667820 G A rs146994424 CCDC14 Nonsynonymous SNV S19L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 237648 chr11 3249484 3249484 C T rs985166450 MRGPRE Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 237649 chr20 10620296 10620296 C G rs138452567 JAG1 Synonymous SNV R1169R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.895 237650 chr12 124349240 124349240 G A rs748343428 DNAH10 Nonsynonymous SNV R2218H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 34 237651 chr11 72406046 72406046 C T rs143644813 ARAP1 Nonsynonymous SNV V919I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 237652 chr3 129130068 129130068 C T rs369185688 EFCAB12 Nonsynonymous SNV R323Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 237653 chrX 9859131 9859131 C T rs369952785 SHROOM2 Synonymous SNV S144S 0 0 0 2 0 0 0.005 0 0 0 0 1 8.951 237654 chrX 20033365 20033365 C T rs373578003 MAP7D2 Synonymous SNV E489E 0 0 0 2 0 0 0.005 0 0 0 0 1 13.8 237655 chr3 130286987 130286987 A G rs200001966 COL6A6 Nonsynonymous SNV N647S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 237656 chr14 105421456 105421456 G A rs375125941 AHNAK2 Synonymous SNV T63T 0 0.005 0 0 0 2 0 0 0 0 0 0 8.218 237657 chr3 134080517 134080517 C A rs759434423 AMOTL2 Nonsynonymous SNV R529L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 237658 chrX 55028786 55028786 A G APEX2 Nonsynonymous SNV N115S 0 0 0 2 0 0 0.005 0 0 0 0 1 10.23 237659 chrX 106846512 106846512 C T FRMPD3 Nonsynonymous SNV A1781V 0 0 0 2 0 0 0.005 0 0 0 0 1 0.334 237660 chr11 87032273 87032273 T A rs146982299 TMEM135 Nonsynonymous SNV D403E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 237661 chr7 107684274 107684274 C A rs73424723 LAMB4 Nonsynonymous SNV G1465V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 1.189 237662 chr7 107732826 107732826 C T rs34137471 LAMB4 Synonymous SNV G502G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 14.57 237663 chr11 92523203 92523203 C T rs375548582 FAT3 Nonsynonymous SNV T1477M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 237664 chrX 152105044 152105044 C T ZNF185 Nonsynonymous SNV P372S 0 0 0 2 0 0 0.005 0 0 0 0 1 7.143 237665 chr20 43353580 43353580 A T rs761762161 CCN5 Nonsynonymous SNV E160V 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 237666 chr6 24596145 24596145 C T KIAA0319 Nonsynonymous SNV A208T 0 0 0 3 0 0 0.008 0 0 0 0 0 7.636 237667 chrX 152986328 152986328 G A rs782139553 BCAP31 Synonymous SNV I64I 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 9.566 237668 chrX 153032830 153032830 G A rs781934370 PLXNB3 Nonsynonymous SNV R183Q 0 0 0 2 0 0 0.005 0 0 0 0 1 6.947 237669 chrX 153629178 153629178 C A RPL10 Synonymous SNV G155G 0 0 0 2 0 0 0.005 0 0 0 0 1 19.38 237670 chr12 101736803 101736803 A G UTP20 Nonsynonymous SNV K1461E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 237671 chr3 183474412 183474412 A G rs35139586 YEATS2 Nonsynonymous SNV N496S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.118 237672 chr6 28053598 28053598 C T rs367910241 ZNF165 Nonsynonymous SNV P114S 0 0 0 3 0 0 0.008 0 0 0 0 0 26.3 237673 chr6 28053605 28053605 G C rs374707152 ZNF165 Nonsynonymous SNV S116T 0 0 0 3 0 0 0.008 0 0 0 0 0 12.64 237674 chr3 184769781 184769781 - AGCTCATTCCTCCACCTGT rs768257793 VPS8 Frameshift insertion T1413Afs*8 0 0 0.003 1 0 0 0.003 1 0 0 0 0 237675 chr11 62376241 62376241 C T rs371593370 EML3 Synonymous SNV S323S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.48 237676 chr1 2461365 2461365 A C rs754633773 HES5 Nonsynonymous SNV F47C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 237677 chr1 5925220 5925220 C G rs560944258 NPHP4 Nonsynonymous SNV R741P 0 0 0 1 0 0 0.003 0 0 0 0 0 34 237678 chr12 112121110 112121110 G A rs377363924 BRAP Synonymous SNV A28A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.75 237679 chr12 112182760 112182760 A G rs201272990 ACAD10 Synonymous SNV Q676Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.13 237680 chr12 52145259 52145259 T C SCN8A Nonsynonymous SNV M751T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 237681 chr11 64665815 64665815 T A rs144122454 ATG2A Nonsynonymous SNV H1556L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 237682 chr6 38828302 38828302 G T DNAH8 Nonsynonymous SNV D1793Y 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 237683 chr20 61432426 61432426 C T rs41298350 OGFR-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.246 237684 chr6 40360339 40360339 G A rs765518454 LRFN2 Synonymous SNV A571A 0 0 0 3 0 0 0.008 0 0 0 0 0 2.182 237685 chr20 61910326 61910326 C T rs775007952 ARFGAP1 Synonymous SNV N149N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.07 237686 chr6 42200585 42200585 C T rs778977000 TRERF1 Nonsynonymous SNV G1058R 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 23.2 237687 chr7 150932172 150932172 G A rs756693105 CHPF2 Nonsynonymous SNV R101Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.8 237688 chr3 33175705 33175705 T G CRTAP Nonsynonymous SNV L367R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.95 237689 chr1 15361284 15361284 C T rs764798499 KAZN Nonsynonymous SNV T59I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 237690 chr1 15701092 15701092 C T rs200167745 FHAD1 Nonsynonymous SNV A1159V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.454 237691 chr20 62705654 62705654 C T rs761434660 RGS19 Nonsynonymous SNV S102N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.069 237692 chr12 122261248 122261248 C G rs773927878 SETD1B Nonsynonymous SNV P1588R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 237693 chr8 142148158 142148158 C T rs146488694 DENND3 Synonymous SNV C141C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.13 237694 chr21 30909620 30909620 C T rs73897668 GRIK1 Synonymous SNV G759G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 237695 chr3 43122374 43122374 C T rs368791726 POMGNT2 Nonsynonymous SNV G184S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.1 237696 chr12 57453776 57453776 C T rs146251337 NEMP1 Synonymous SNV E334E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.4 237697 chr21 33370891 33370891 G C rs148050790 HUNK Synonymous SNV V513V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.681 237698 chr8 11412318 11412318 G A rs144781247 BLK Nonsynonymous SNV R109H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 237699 chr3 47890241 47890241 G A DHX30 Synonymous SNV V901V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.347 237700 chr1 23232520 23232520 C T rs560378330 EPHB2 Synonymous SNV Y544Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.993 237701 chr12 13716629 13716629 G A rs866476716 GRIN2B Synonymous SNV H1181H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 237702 chr12 14019091 14019091 C T rs201094029 GRIN2B Nonsynonymous SNV V18I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.46 237703 chr11 56344801 56344801 T G rs763334712 OR5M10 Nonsynonymous SNV S133R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.325 237704 chr1 25554616 25554616 T C rs202213932 SYF2 Synonymous SNV G81G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 237705 chr21 43259813 43259813 T C rs1001155513 PRDM15 Nonsynonymous SNV K301E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 237706 chr3 49700317 49700317 C T rs144428272 BSN Synonymous SNV L3576L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.42 237707 chr14 96772054 96772054 G A rs748996774 ATG2B Synonymous SNV S1535S 0 0.005 0 0 0 2 0 0 0 0 0 0 6.732 237708 chr12 7045909 7045909 - CAGCAG ATN1 Q502_H503insQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 237709 chr8 23305393 23305393 A C rs559565286 ENTPD4 Nonsynonymous SNV L71R 0 0 0 2 0 0 0.005 0 0 0 0 0 27.1 237710 chr8 146033100 146033100 G A rs773343403 ZNF517 Nonsynonymous SNV G260S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.9 237711 chr1 36785430 36785430 C T rs769827529 SH3D21 Nonsynonymous SNV T278I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.63 237712 chr12 44130255 44130255 C T PUS7L Nonsynonymous SNV A239T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 237713 chr22 21138440 21138440 T C rs199499153 SERPIND1 Nonsynonymous SNV I357T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 237714 chr11 60642431 60642431 C T rs762797599 ZP1 Nonsynonymous SNV A533V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.301 237715 chr12 994534 994534 G A rs146861951 WNK1 Nonsynonymous SNV V1275M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.31 237716 chr3 9982648 9982648 G A rs201866563 CRELD1 Nonsynonymous SNV C192Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.2 237717 chr11 61912680 61912680 C T INCENP Synonymous SNV R581R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 237718 chr4 102791708 102791708 C T rs139390646 BANK1 Synonymous SNV I137I 0 0 0 2 0 0 0.005 0 0 0 0 0 13.71 237719 chr1 51613212 51613212 C T rs41286536 C1orf185 Synonymous SNV S123S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.596 237720 chr11 62554668 62554668 C T TAF6L Nonsynonymous SNV P590L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 237721 chr13 115090652 115090652 A T CHAMP1 Synonymous SNV S445S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 237722 chr4 110790934 110790934 G T rs199943498 LRIT3 Synonymous SNV V343V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.056 237723 chr22 31338163 31338163 C T rs779685773 MORC2 Synonymous SNV K174K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 237724 chr7 100806400 100806420 GTGGCGCGAAGGCGGCAAGGC - rs750790296 VGF A569_H575del 0 0 0 3 0 0 0.008 0 0 0 0 0 237725 chr7 100877665 100877665 G A rs149596550 CLDN15 Synonymous SNV G92G 0 0 0 3 0 0 0.008 0 0 0 0 0 13.25 237726 chr4 118005926 118005926 A G TRAM1L1 Synonymous SNV T208T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.063 237727 chr22 36055097 36055097 C T rs149874077 APOL6 Synonymous SNV D162D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.784 237728 chr7 104809686 104809686 C T rs754639769 SRPK2 Nonsynonymous SNV D75N 0 0 0 3 0 0 0.008 0 0 0 0 0 33 237729 chr11 64875465 64875465 C G rs377335542 VPS51 Synonymous SNV R232R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.898 237730 chr11 64875466 64875466 C A rs201701443 VPS51 Nonsynonymous SNV L233M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 237731 chr11 64875762 64875762 G A rs370063968 VPS51 Synonymous SNV L273L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.942 237732 chr7 111381600 111381600 G A rs757450490 DOCK4 Nonsynonymous SNV R1630C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 35 237733 chr13 31713181 31713181 C T HSPH1 Nonsynonymous SNV D606N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 237734 chr22 39966771 39966771 C T CACNA1I Nonsynonymous SNV A5V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 237735 chr4 144620193 144620193 C A rs188813179 FREM3 Nonsynonymous SNV V546F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 237736 chr9 100107890 100107890 G - CCDC180 A876Hfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 237737 chr11 66626081 66626098 GCCTCTGGGTGCTGGAAG - LRFN4 L290_G295del 0.001 0 0 0 1 0 0 0 0 0 0 0 237738 chr22 43618708 43618708 C A rs141718672 SCUBE1 Synonymous SNV G456G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 237739 chr4 155219558 155219561 ACTC - DCHS2 E1969Ifs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 237740 chr1 91977470 91977470 C T rs539320135 CDC7 Nonsynonymous SNV R188C 0 0 0 1 0 0 0.003 0 0 0 0 0 24 237741 chr22 46327112 46327112 C T WNT7B Nonsynonymous SNV G146S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 237742 chr15 74554870 74554870 A G CCDC33 Nonsynonymous SNV D92G 0 0.005 0 0 0 2 0 0 0 0 0 0 26.7 237743 chr11 68848935 68848935 T C TPCN2 Nonsynonymous SNV F553L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 237744 chr12 132237744 132237744 A T rs373511794 SFSWAP Synonymous SNV G386G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.5 237745 chr1 94577045 94577045 - TTTG rs1005271380 ABCA4 Frameshift insertion S84Tfs*16 0 0 0 1 0 0 0.003 0 0 0 0 0 237746 chr15 75941666 75941666 G T SNX33 Nonsynonymous SNV A75S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.007 237747 chr13 76374871 76374871 G A rs774821080 LMO7 Nonsynonymous SNV G130S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.05 237748 chr12 133331371 133331371 G A rs185977448 ANKLE2 Nonsynonymous SNV S177L 0.004 0.003 0.003 2 5 1 0.005 1 0 0 0 0 Likely benign 14.27 237749 chr7 140107542 140107542 T C rs375341613 RAB19 Synonymous SNV C32C 0 0 0 2 0 0 0.005 0 0 0 0 0 2.023 237750 chr11 75501729 75501729 C T rs765829063 DGAT2 Stop gain R85X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 237751 chr1 116670844 116670844 G T rs149122915 MAB21L3 Stop gain E247X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 237752 chr11 85422216 85422216 C G rs117681965 SYTL2 Nonsynonymous SNV K21N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 32 237753 chr4 2701499 2701499 T G rs767666139 FAM193A Nonsynonymous SNV D909E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 237754 chr11 8660219 8660219 A T rs757168438 TRIM66 Synonymous SNV S619S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.778 237755 chr11 8660286 8660286 G C rs548842543 TRIM66 Nonsynonymous SNV P597R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 237756 chr7 151875066 151875066 G A rs367803873 KMT2C Nonsynonymous SNV T2491I 0 0 0 4 0 0 0.01 0 0 0 0 0 13.76 237757 chr2 121223007 121223007 C A rs115152764 LINC01101 0 0 0.017 0 0 0 0 5 0 0 1 0 7 237758 chr1 151337114 151337114 A T SELENBP1 Nonsynonymous SNV F380I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 237759 chr14 23346546 23346546 T C LRP10 Nonsynonymous SNV L651S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 237760 chr1 152883842 152883842 G A rs374478812 IVL Synonymous SNV L523L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 2.416 237761 chr7 18914134 18914134 T C rs541187784 HDAC9 Synonymous SNV D862D 0 0 0 3 0 0 0.008 0 0 0 0 0 1.763 237762 chr2 141597620 141597620 T A rs760663303 LRP1B Nonsynonymous SNV M1717L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 237763 chr12 10215654 10215654 C G rs11831360 CLEC9A Nonsynonymous SNV A107G 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 0.227 237764 chr14 31344483 31344483 C T rs1124180 COCH Synonymous SNV L86L 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 9.833 237765 chr13 25272966 25272966 C T rs559369271 ATP12A Synonymous SNV G567G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.28 237766 chr1 156639545 156639545 C T rs76112179 NES Nonsynonymous SNV G1479S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 14.35 237767 chr2 160253889 160253889 C A rs572458606 BAZ2B Nonsynonymous SNV M956I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.57 237768 chr1 156779464 156779464 C T rs376035537 SH2D2A Nonsynonymous SNV G207R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.526 237769 chr4 677487 677487 C T rs747766916 SLC49A3 Nonsynonymous SNV G184S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.793 237770 chr1 160064697 160064697 C T rs200550632 IGSF8 Nonsynonymous SNV R135H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 237771 chr2 175742721 175742721 T C rs373885236 CHN1 Synonymous SNV E132E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.462 237772 chr12 112605307 112605307 G A rs757203424 HECTD4 Synonymous SNV Y4126Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.246 237773 chr2 177465724 177465724 T C MIR1246 0 0 0.003 0 0 0 0 1 0 0 0 0 4.264 237774 chr1 160721990 160721990 G A rs570311439 SLAMF7 Nonsynonymous SNV G131R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.167 237775 chr16 23391981 23391981 G A rs13306628 SCNN1B Synonymous SNV T594T 0 0.008 0 0 0 3 0 0 0 0 0 0 Benign/Likely benign 5.611 237776 chr2 179438755 179438755 A T rs759861907 TTN Nonsynonymous SNV F14970Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.2 237777 chr12 113729711 113729711 C T rs140224137 TPCN1 Synonymous SNV L619L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 17.38 237778 chr13 51417648 51417648 G A DLEU7 Synonymous SNV H45H 0.003 0 0 0 3 0 0 0 0 0 0 0 10.62 237779 chr2 179698994 179698994 C A rs199532854 CCDC141 Nonsynonymous SNV G1500V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 237780 chr2 17998243 17998243 C A MSGN1 Nonsynonymous SNV P153H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 237781 chr1 167358825 167358825 - CAGCAACCCCAACACGCACAATAG POU2F1 P220_I221insTRTIAATP 0 0 0 1 0 0 0.003 0 0 0 0 0 237782 chr16 28843610 28843610 C T rs145394539 ATXN2L Nonsynonymous SNV S475L 0 0.005 0 0 0 2 0 0 0 0 0 0 23.9 237783 chr4 8230154 8230154 C G SH3TC1 Synonymous SNV A835A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.761 237784 chr16 31154929 31154929 T C rs780649943 PRSS36 Nonsynonymous SNV N317S 0 0.005 0 0 0 2 0 0 0 0 0 0 23 237785 chr4 87689000 87689000 T C rs200245497 PTPN13 Nonsynonymous SNV S1263P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.522 237786 chr16 31408683 31408683 C T rs150915570 ITGAD Synonymous SNV L47L 0 0.005 0 0 0 2 0 0 0 0 0 0 17.31 237787 chr14 101348489 101348489 G A rs547892982 RTL1 Synonymous SNV T879T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.58 237788 chr7 5112063 5112063 C G rs764379985 RBAK-RBAKDN Synonymous SNV P103P 0 0 0 3 0 0 0.008 0 0 0 0 0 7.017 237789 chr9 32631593 32631593 T G TAF1L Nonsynonymous SNV N1329H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.4 237790 chr16 3304567 3304567 C G rs104895079 MEFV Nonsynonymous SNV E167D 0.001 0.008 0 2 1 3 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.93 237791 chr12 66531799 66531799 C A rs746994595 TMBIM4 Nonsynonymous SNV D189Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 34 237792 chr4 89022447 89022447 C A rs781367109 ABCG2 Synonymous SNV T434T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.76 237793 chr4 89357006 89357006 T C HERC6 Synonymous SNV L758L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.777 237794 chr14 102973777 102973777 C T ANKRD9 Synonymous SNV R150R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.2 237795 chr14 103059366 103059366 G C rs951051909 RCOR1 Nonsynonymous SNV G48A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.738 237796 chr1 180907823 180907823 G C KIAA1614 Nonsynonymous SNV G965A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 237797 chr12 12871129 12871129 T C rs142833529 CDKN1B Nonsynonymous SNV I119T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.679 237798 chr2 206921354 206921354 G A rs773913914 INO80D Nonsynonymous SNV R178W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 237799 chr7 6661877 6661877 G A rs775989861 ZNF853 Nonsynonymous SNV A404T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 237800 chr2 210560149 210560149 G T MAP2 Synonymous SNV P1081P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.772 237801 chr1 190423818 190423818 C A rs200159768 BRINP3 Nonsynonymous SNV G30C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 237802 chr9 126133161 126133161 G T rs144365725 CRB2 Nonsynonymous SNV R610L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.16 237803 chr5 118969993 118969993 G A rs191422780 FAM170A Nonsynonymous SNV D137N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 237804 chr2 217525287 217525287 C T rs184687974 IGFBP2 Synonymous SNV G150G 0 0 0.007 0 0 0 0 2 0 0 0 0 12.83 237805 chr14 20711593 20711593 C T rs773214490 OR11H4 Nonsynonymous SNV L215F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.617 237806 chr5 125912806 125912806 G A rs369380330 ALDH7A1 Synonymous SNV N205N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.012 237807 chr2 219516686 219516686 A G ZNF142 Synonymous SNV D206D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 237808 chr9 131397025 131397025 A G WDR34 Nonsynonymous SNV F386S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.6 237809 chr16 57790771 57790771 C T rs782233520 KATNB1 Synonymous SNV S627S 0 0.005 0 0 0 2 0 0 0 0 0 0 17.84 237810 chr5 132160930 132160930 G A rs143694487 SHROOM1 Synonymous SNV A301A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.101 237811 chr5 132161589 132161589 A T rs13179709 SHROOM1 Nonsynonymous SNV S82T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 237812 chr16 58577400 58577400 A C rs201759057 CNOT1 Nonsynonymous SNV N1515K 0 0.005 0 0 0 2 0 0 0 0 0 0 3.288 237813 chr1 204379706 204379706 C G PPP1R15B Synonymous SNV S278S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.6 237814 chr1 205083951 205083951 T C RBBP5 Nonsynonymous SNV I62V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.07 237815 chr12 309921 309921 T C rs143648821 SLC6A12 Nonsynonymous SNV I203V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 237816 chr5 138160362 138160362 A C rs201899693 CTNNA1 Synonymous SNV I141I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.559 237817 chr2 228137706 228137706 T A COL4A3 Nonsynonymous SNV D600E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.07 237818 chr12 31841986 31841986 G A AMN1 Nonsynonymous SNV P220S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 237819 chr12 32138033 32138033 G A rs762498738 RESF1 Nonsynonymous SNV V1382I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 237820 chr9 135464870 135464870 C A rs550911455 BARHL1 Synonymous SNV P315P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.56 237821 chr1 208391034 208391034 G A rs73082013 PLXNA2 Synonymous SNV T78T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.832 237822 chr2 232141482 232141482 A G rs746859897 ARMC9 Nonsynonymous SNV S457G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 237823 chr14 38218299 38218299 G A rs76442677 TTC6 Nonsynonymous SNV R856Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.605 237824 chr5 140720474 140720474 A G rs148082357 PCDHGA2 Nonsynonymous SNV I646V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 237825 chr5 142526905 142526905 C T rs61749638 ARHGAP26 Synonymous SNV D649D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.86 237826 chr2 237489835 237489835 A G rs754326839 ACKR3 Nonsynonymous SNV S243G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 237827 chr8 110471982 110471982 T C PKHD1L1 Nonsynonymous SNV L2388P 0 0 0 3 0 0 0.008 0 0 0 0 0 27 237828 chr2 238244878 238244878 G A rs199936838 COL6A3 Synonymous SNV P2348P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.712 237829 chr2 238402139 238402139 C A MLPH Synonymous SNV R24R 0 0 0.003 0 0 0 0 1 0 0 0 0 22 237830 chr5 146793195 146793195 C T DPYSL3 Nonsynonymous SNV M282I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 237831 chr1 223567527 223567527 G A CCDC185 Nonsynonymous SNV S237N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.076 237832 chr1 223991025 223991025 T C rs565984206 TP53BP2 Nonsynonymous SNV H260R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.8 237833 chr2 239039232 239039232 A G ESPNL Nonsynonymous SNV Q258R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 237834 chr1 225688725 225688725 G A rs141150172 ENAH Nonsynonymous SNV T529M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 237835 chr2 241404523 241404523 C T rs755771573 GPC1 Synonymous SNV D388D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 237836 chr14 55611982 55611982 T A LGALS3 Nonsynonymous SNV M249K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 237837 chr13 28841534 28841534 G T rs773169905 PAN3 Nonsynonymous SNV K596N 0 0.003 0 0 0 1 0 0 0 0 0 0 24 237838 chr12 53298579 53298579 T C rs59536457 KRT8 Nonsynonymous SNV I63V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23.5 237839 chr1 230810835 230810835 C G COG2 Nonsynonymous SNV L331V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 237840 chr2 28755043 28755043 G A rs78168838 PLB1 Synonymous SNV L179L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.52 237841 chr8 142228883 142228883 C T rs756263729 SLC45A4 Nonsynonymous SNV E235K 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 237842 chr12 53822788 53822788 C T rs750721972 AMHR2 Stop gain Q321X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 237843 chr16 89629390 89629390 C T rs144229587 RPL13 Synonymous SNV F192F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.3 237844 chr8 144523150 144523150 G A rs553942477 ZC3H3 Synonymous SNV S816S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.94 237845 chr12 55688653 55688653 C A rs201844969 OR6C6 Nonsynonymous SNV V122F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 237846 chr16 90094105 90094105 C T GAS8 Nonsynonymous SNV A22V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 237847 chr1 236917313 236917313 G A rs780431842 ACTN2 Nonsynonymous SNV E636K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 237848 chr15 61521336 61521336 C G rs749032388 RORA Nonsynonymous SNV E28Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 22.1 237849 chr5 176731648 176731648 A T rs147067833 PRELID1 Nonsynonymous SNV I39L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 237850 chr2 43657415 43657415 C T rs749886006 THADA Nonsynonymous SNV R1288H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 237851 chr14 75329356 75329356 C G rs767898623 PROX2 Nonsynonymous SNV Q394H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.865 237852 chr2 44539781 44539781 C T rs200800682 SLC3A1 Synonymous SNV N463N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.34 237853 chr1 247615118 247615118 T C rs773577111 OR2B11 Nonsynonymous SNV D56G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 237854 chr12 6421421 6421421 G C PLEKHG6 Nonsynonymous SNV G10A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.955 237855 chr14 94395378 94395378 C T rs200855077 FAM181A Synonymous SNV P249P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.462 237856 chr5 35876430 35876430 C T IL7R Nonsynonymous SNV L408F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.132 237857 chr2 1805491 1805491 C T rs1002238903 MYT1L Nonsynonymous SNV D1085N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 237858 chr2 9770522 9770522 G C rs770667690 YWHAQ Nonsynonymous SNV D20E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.73 237859 chr14 21499276 21499276 C A rs148606055 TPPP2 Nonsynonymous SNV N93K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.063 237860 chr2 85032849 85032849 G A rs77179930 DNAH6 Nonsynonymous SNV G3848S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.96 237861 chr2 85043125 85043125 A G rs146806296 DNAH6 Synonymous SNV Q4097Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.394 237862 chr17 25630529 25630529 G T rs369959782 WSB1 Nonsynonymous SNV G116W 0 0.005 0 0 0 2 0 0 0 0 0 0 31 237863 chr5 476625 476625 G A rs769199001 SLC9A3-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.108 237864 chr15 85327915 85327915 C T rs139025399 ZNF592 Nonsynonymous SNV T670M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 237865 chr2 85922101 85922101 T C rs145130201 GNLY Nonsynonymous SNV W39R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 237866 chr15 31360279 31360279 T C TRPM1 Nonsynonymous SNV Y116C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 18.66 237867 chr2 18768239 18768239 G A rs761570036 NT5C1B Synonymous SNV T107T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.886 237868 chr5 5457849 5457849 G T rs548839388 ICE1 Nonsynonymous SNV A366S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.33 237869 chr17 30625174 30625174 G A rs145659720 RHBDL3 Synonymous SNV V183V 0 0.005 0 0 0 2 0 0 0 0 0 0 12.38 237870 chr8 27290937 27290937 G A MIR6842 0 0 0 2 0 0 0.005 0 0 0 0 0 2.689 237871 chr15 39882091 39882091 A G THBS1 Nonsynonymous SNV D671G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 237872 chr12 96894717 96894717 A G rs558673753 CFAP54 Synonymous SNV K141K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 237873 chr12 96900825 96900825 C T rs190544245 CFAP54 Synonymous SNV L229L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 237874 chr12 96934699 96934699 A G rs575480246 CFAP54 Nonsynonymous SNV T671A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.907 237875 chr12 9751103 9751103 C T rs775171276 KLRB1 Nonsynonymous SNV D136N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.46 237876 chr2 27803182 27803182 C G rs529133459 C2orf16 Nonsynonymous SNV T1248S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 237877 chr3 111312513 111312513 C T rs138334089 ZBED2 Nonsynonymous SNV R179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 237878 chr15 90432315 90432315 C T rs1042552233 AP3S2, ARPIN-AP3S2 Nonsynonymous SNV D43N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 237879 chr13 100623815 100623815 A C rs181282662 ZIC5 Nonsynonymous SNV L39V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.7 237880 chr17 34958431 34958431 C T rs964713300 MRM1 Synonymous SNV A64A 0 0.005 0 0 0 2 0 0 0 0 0 0 17.98 237881 chr13 102235663 102235663 C A ITGBL1 Nonsynonymous SNV D134E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.21 237882 chr2 29249738 29249738 C T rs755063375 TOGARAM2 Nonsynonymous SNV R434W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 237883 chr15 90997731 90997731 A T rs927632974 IQGAP1 Nonsynonymous SNV D520V 0 0.003 0 0 0 1 0 0 0 0 0 0 29 237884 chr5 74433709 74433709 T G ANKRD31 Nonsynonymous SNV H1226P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 237885 chr5 75505705 75505705 G A rs372729641 SV2C Synonymous SNV P302P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 237886 chr2 31595165 31595165 G A rs140066757 XDH Synonymous SNV D595D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.811 237887 chr2 32733181 32733181 T G BIRC6 Nonsynonymous SNV C3279G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 237888 chr15 42364080 42364080 C A rs72489212 PLA2G4D Nonsynonymous SNV G489C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 237889 chr15 42364087 42364087 A G rs77427109 PLA2G4D Synonymous SNV Y486Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 237890 chr15 42379598 42379598 G A rs74977904 PLA2G4D Nonsynonymous SNV S52L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 237891 chr2 33810471 33810471 T C rs748132600 FAM98A Nonsynonymous SNV N115S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.331 237892 chr13 110833729 110833729 G A rs561116319 COL4A1 Synonymous SNV D701D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 4.93 237893 chr2 37268312 37268312 C T HEATR5B Synonymous SNV L940L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.59 237894 chr14 45658197 45658197 G A FANCM Nonsynonymous SNV A1632T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.427 237895 chr15 42978426 42978426 T A rs117842035 STARD9 Nonsynonymous SNV H1550Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.64 237896 chr15 42982124 42982124 A G rs77096807 STARD9 Nonsynonymous SNV H2783R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.08 237897 chr8 68536413 68536413 T G rs998666598 CPA6 Nonsynonymous SNV K64Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 8.194 237898 chr5 80631635 80631635 C T rs576654714 ACOT12 Nonsynonymous SNV R405H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.278 237899 chr2 54159082 54159082 C T rs145702580 PSME4 Synonymous SNV Q402Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.2 237900 chr2 54164528 54164528 T C rs144541179 PSME4 Nonsynonymous SNV K232R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 237901 chr15 56958658 56958658 G A rs750731956 ZNF280D Synonymous SNV Y630Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.155 237902 chr2 54587451 54587451 A G rs185297941 C2orf73 Nonsynonymous SNV K85E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.39 237903 chr3 129695820 129695820 C G TRH Nonsynonymous SNV Q164E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 237904 chr15 58855712 58855712 G T LIPC Nonsynonymous SNV G393V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.89 237905 chr2 65309804 65309804 A C rs918838217 CEP68 Nonsynonymous SNV M747L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.444 237906 chr13 31722575 31722575 C T rs745636453 HSPH1 Nonsynonymous SNV V318I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 237907 chr15 65157812 65157812 C A rs139634648 PLEKHO2 Synonymous SNV R350R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 237908 chr16 2327929 2327929 T C rs540282149 ABCA3 Synonymous SNV Q1620Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 237909 chr6 116265414 116265414 A C FRK Nonsynonymous SNV V378G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 237910 chr3 148858274 148858274 G A rs748904322 HPS3 Nonsynonymous SNV R234Q 0 0 0.01 0 0 0 0 3 0 0 0 0 6.064 237911 chr15 73616079 73616079 G A rs554689537 HCN4 Synonymous SNV A785A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.574 237912 chr15 74836439 74836439 C T rs533375558 ARID3B Synonymous SNV S54S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.847 237913 chr16 27231782 27231782 G A rs202035405 KDM8 Synonymous SNV T392T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.144 237914 chr3 150873986 150873986 T C MED12L Synonymous SNV L199L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.734 237915 chr9 114693638 114693638 G A UGCG 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 237916 chr3 15604955 15604955 G A rs186020952 HACL1 Synonymous SNV L456L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.629 237917 chr16 28993866 28993866 T C SPNS1 Synonymous SNV Y311Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 237918 chr3 157082200 157082200 T C rs759356110 VEPH1 Nonsynonymous SNV Q410R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 237919 chr15 78486949 78486949 C T rs781258189 ACSBG1 Nonsynonymous SNV D118N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.568 237920 chr2 97427103 97427103 G A CNNM4 Nonsynonymous SNV V123M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.29 237921 chr2 98382697 98382697 G C rs756072439 TMEM131 Nonsynonymous SNV P1535A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.059 237922 chr17 45822288 45822288 G A TBX21 Synonymous SNV G388G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.637 237923 chr16 30007698 30007698 A G rs528387389 INO80E Nonsynonymous SNV K23E 0 0.003 0 0 0 1 0 0 0 0 0 0 32 237924 chr3 167000063 167000063 A G ZBBX Synonymous SNV N671N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 237925 chr16 30998176 30998176 C T HSD3B7 Nonsynonymous SNV P183S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 237926 chr15 82443867 82443867 T C rs900621884 EFL1 Synonymous SNV K925K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.962 237927 chr3 182590172 182590172 A G rs780818177 ATP11B Nonsynonymous SNV Y632C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 237928 chr14 96001630 96001630 C T rs71431696 GLRX5 Synonymous SNV G68G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 15.21 237929 chr15 89386869 89386869 C G ACAN Nonsynonymous SNV I347M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 237930 chr11 406431 406431 G T SIGIRR Nonsynonymous SNV D329E 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.2 237931 chr15 89422259 89422259 G A rs377332400 HAPLN3 Synonymous SNV Y245Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.838 237932 chr16 4790410 4790410 A T rs375159391 C16orf71 Nonsynonymous SNV E178V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.5 237933 chr3 189455533 189455533 G A rs144315591 TP63 Nonsynonymous SNV V23I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 237934 chr2 128918038 128918038 T C rs200448927 UGGT1 Nonsynonymous SNV M856T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 237935 chr14 105939798 105939798 G A CRIP2 Nonsynonymous SNV G72R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 11.33 237936 chr9 130207383 130207383 A G rs56295336 ZNF79 Synonymous SNV T334T 0.001 0.003 0.003 3 1 1 0.008 1 0 0 0 0 0.124 237937 chr14 105965215 105965215 C T rs117715376 TEDC1 Nonsynonymous SNV R372W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 237938 chr16 56920314 56920314 G A rs121909380 SLC12A3 Nonsynonymous SNV R655H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 237939 chr2 160755527 160755527 G A rs138795888 LY75, LY75-CD302 Synonymous SNV C46C 0 0 0 2 0 0 0.005 0 0 0 0 0 8.573 237940 chr2 160876704 160876704 G A rs200663101 PLA2R1 Synonymous SNV D455D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.369 237941 chr6 16327897 16327897 - TGATGCTGA ATXN1 Q214_Q215insHQH 0 0 0 1 0 0 0.003 0 0 0 0 0 237942 chr3 31725336 31725336 G A rs373888777 OSBPL10 Nonsynonymous SNV R442C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 237943 chr16 66423267 66423267 T C CDH5 Nonsynonymous SNV I208T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 237944 chr16 68293208 68293208 G A rs138261353 PLA2G15 Nonsynonymous SNV R296H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.123 237945 chr2 167168190 167168190 C G rs111404258 SCN9A Nonsynonymous SNV R26P 0 0 0 1 0 0 0.003 0 0 0 0 0 34 237946 chr16 1400973 1400973 C T rs575767980 TSR3 Nonsynonymous SNV V121I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 237947 chr14 23240238 23240238 G T rs143046719 OXA1L Nonsynonymous SNV M317I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.36 237948 chr15 41191710 41191710 A T VPS18 Nonsynonymous SNV I232L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.26 237949 chr15 41769452 41769452 C T rs769536143 RTF1 Synonymous SNV D550D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.23 237950 chr3 38941470 38941470 C T SCN11A Nonsynonymous SNV S646N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 237951 chr2 173333922 173333922 C T ITGA6 Nonsynonymous SNV R153W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 237952 chr16 17232195 17232195 - CATGAGAAAGT rs777788182 LOC102723692 0.001 0 0 0 1 0 0 0 0 0 0 0 237953 chr16 1842154 1842154 C A rs573461860 IGFALS Nonsynonymous SNV V127F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 237954 chr16 74694972 74694972 C T rs201999750 RFWD3 Nonsynonymous SNV G126R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 237955 chr16 19087046 19087046 C T rs763027324 COQ7 Nonsynonymous SNV A86V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 237956 chr3 42633094 42633094 - T rs779293538 SS18L2 0 0 0.003 0 0 0 0 1 0 0 0 0 237957 chr2 179457531 179457531 G A rs72646840 TTN Nonsynonymous SNV P10707L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 21.1 237958 chr2 179460495 179460495 G C rs397517630 TTN Nonsynonymous SNV L10131V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.19 237959 chr2 179639725 179639725 G A rs201284459 TTN Nonsynonymous SNV T2192M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.09 237960 chr2 179647684 179647684 G A rs56310516 TTN Synonymous SNV I937I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 13.7 237961 chr9 139371027 139371027 C T rs758472995 SEC16A Synonymous SNV T347T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.9 237962 chr16 2142147 2142147 G A rs757584312 PKD1 Nonsynonymous SNV S3770L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 237963 chr15 51012137 51012137 C G rs182926903 SPPL2A Nonsynonymous SNV Q496H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 237964 chr9 139873752 139873752 G A rs761604673 PTGDS 0 0 0.003 2 0 0 0.005 1 0 0 0 0 25.5 237965 chr15 52427912 52427912 G A rs372832401 GNB5 Synonymous SNV D181D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.59 237966 chr3 4687340 4687340 C T rs542591284 ITPR1 Synonymous SNV H261H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 237967 chr3 48336566 48336566 C T rs199720464 NME6 Nonsynonymous SNV R126Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 237968 chr14 55369067 55369067 G A rs775944523 GCH1 Synonymous SNV F105F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 237969 chr3 49897312 49897312 C T rs368734709 CAMKV Synonymous SNV K315K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 237970 chr2 191301845 191301845 G A rs760269189 MFSD6 Nonsynonymous SNV E364K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 237971 chr14 59789730 59789730 G A rs750637290 DAAM1 Synonymous SNV A187A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.65 237972 chr9 21141559 21141559 A G rs771257881 IFNW1 Nonsynonymous SNV L4P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.439 237973 chr2 201462174 201462174 C T rs142194948 AOX1 Synonymous SNV A85A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 237974 chr2 202000950 202000950 G A CFLAR Nonsynonymous SNV A185T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.048 237975 chr16 30762583 30762583 C T rs568221601 PHKG2 Synonymous SNV V84V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 237976 chr6 44189409 44189409 C T SLC29A1 Nonsynonymous SNV P58L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.446 237977 chr6 45405766 45405766 A G rs115763613 RUNX2 Synonymous SNV V207V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.803 237978 chr14 70527644 70527644 C A SLC8A3 Nonsynonymous SNV R599S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.8 237979 chr3 65479192 65479192 T C rs61742800 MAGI1 Nonsynonymous SNV Y182C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 237980 chr16 4164208 4164208 G A rs73492586 ADCY9 Synonymous SNV A412A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.814 237981 chr16 4164738 4164738 T C rs61731442 ADCY9 Nonsynonymous SNV T236A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 237982 chr16 4649359 4649359 T C rs974753446 C16orf96 Nonsynonymous SNV C1068R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 237983 chr16 53528057 53528057 C T rs118126947 AKTIP Nonsynonymous SNV A235T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.6 237984 chr9 8492902 8492902 A T rs12346849 PTPRD Synonymous SNV G809G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.445 237985 chr11 1651229 1651229 G A rs553119014 KRTAP5-5 Synonymous SNV A53A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.376 237986 chr11 1651241 1651241 A C rs754353217 KRTAP5-5 Synonymous SNV G57G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 237987 chr18 19065658 19065658 C G GREB1L Nonsynonymous SNV S878R 0 0.005 0 0 0 2 0 0 0 0 0 0 24 237988 chr2 226447641 226447641 G A rs138500026 NYAP2 Nonsynonymous SNV R503Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 237989 chr4 123130998 123130998 G T rs201634837 KIAA1109 Nonsynonymous SNV V653F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 237990 chr15 90610810 90610810 C T rs201986890 ZNF710 Synonymous SNV C147C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.335 237991 chr16 12061673 12061673 C T rs371163866 TNFRSF17 Nonsynonymous SNV T175M 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 other 10.46 237992 chr2 237395520 237395520 A T rs141660240 IQCA1 Synonymous SNV R224R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.008 237993 chr16 84075729 84075729 G A rs780388997 SLC38A8 Nonsynonymous SNV P12S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 237994 chr16 1420228 1420228 C T rs370295644 UNKL Synonymous SNV P496P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.243 237995 chrX 19560182 19560182 C G SH3KBP1 Nonsynonymous SNV A304P 0 0 0 3 0 0 0.008 0 0 0 0 1 23.9 237996 chr16 842727 842727 G A rs552756954 CHTF18 Synonymous SNV P496P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.739 237997 chr16 1838997 1838997 G A NUBP2 Nonsynonymous SNV A218T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.801 237998 chr4 169206030 169206030 T C rs764319785 DDX60 Nonsynonymous SNV H501R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.91 237999 chr7 100551640 100551640 A G rs779743908 MUC3A Nonsynonymous SNV T741A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.005 238000 chr2 242615588 242615588 G A rs376658417 DTYMK Nonsynonymous SNV A155V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.776 238001 chr16 2260615 2260615 C T rs755471927 BRICD5 Nonsynonymous SNV V30M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.54 238002 chr4 185623558 185623558 C T rs34007339 CENPU Nonsynonymous SNV A279T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 238003 chr4 186380597 186380597 G T rs9999097 CCDC110 Nonsynonymous SNV L345M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 238004 chr4 186425703 186425703 C T rs61734674 PDLIM3 Synonymous SNV P110P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.43 238005 chr4 186456547 186456547 G A rs116775669 PDLIM3 Synonymous SNV G14G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 16.59 238006 chr16 2813690 2813690 C T SRRM2 Nonsynonymous SNV S1054F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.224 238007 chr17 38556161 38556161 G A TOP2A Synonymous SNV R1053R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.484 238008 chr7 102108246 102108246 A G rs139828148 LRWD1 Synonymous SNV E66E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.474 238009 chr7 1027150 1027150 G A rs201612311 CYP2W1 Nonsynonymous SNV G376S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 238010 chr3 12977721 12977721 G A rs113261173 IQSEC1 Synonymous SNV T265T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 0.524 238011 chr3 25832713 25832713 G A rs202016313 OXSM Nonsynonymous SNV G68R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.014 238012 chr4 39505591 39505591 T - UGDH E359Dfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 238013 chr7 129680830 129680830 G A ZC3HC1 Nonsynonymous SNV L124F 0 0 0 1 0 0 0.003 0 0 0 0 0 30 238014 chr4 47465645 47465645 G C COMMD8 Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 238015 chr17 19284642 19284642 C T rs767185851 MAPK7 Nonsynonymous SNV R235W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 238016 chr17 19459175 19459175 T C rs145720500 SLC47A1 Nonsynonymous SNV M269T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 238017 chr15 68480127 68480127 C T rs773939264 PIAS1 Nonsynonymous SNV T637M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.6 238018 chr3 39161501 39161501 T C rs773342375 TTC21A Nonsynonymous SNV V256A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.85 238019 chr11 56310717 56310717 C A OR5M11 Nonsynonymous SNV G6V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.087 238020 chr17 42433802 42433802 G A rs61742030 FAM171A2 Synonymous SNV S198S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.165 238021 chr7 135418936 135418936 G A rs200277074 FAM180A Synonymous SNV D103D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.072 238022 chr4 677471 677471 C T rs139230183 SLC49A3 Nonsynonymous SNV R189Q 0.001 0 0.014 0 1 0 0 4 0 0 0 0 25.8 238023 chr3 44881921 44881921 G A KIF15 Synonymous SNV V1131V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.91 238024 chr15 76630750 76630750 G A rs762891048 ISL2 Nonsynonymous SNV E136K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.9 238025 chr7 142638356 142638356 G A rs775361976 KEL Nonsynonymous SNV R728C 0 0 0 1 0 0 0.003 0 0 0 0 0 29 238026 chr7 142640389 142640389 - CG KEL Frameshift insertion E582Afs*31 0 0 0 1 0 0 0.003 0 0 0 0 0 238027 chr3 45559498 45559498 G A LARS2 Synonymous SNV L716L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 238028 chr19 1399840 1399840 G A rs144630886 GAMT Synonymous SNV D93D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 11.73 238029 chr17 27370291 27370291 G T rs34642085 PIPOX Synonymous SNV G16G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.75 238030 chr4 74282006 74282006 C A rs75946332 ALB Nonsynonymous SNV Q409K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 238031 chr17 28811768 28811768 C T rs572805501 GOSR1 Nonsynonymous SNV R45W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 238032 chr10 13380719 13380719 C T rs776217380 SEPHS1 Nonsynonymous SNV D28N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 238033 chr10 134022578 134022578 C T rs370561981 STK32C Nonsynonymous SNV D440N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 238034 chr3 48451079 48451079 C T rs764450956 PLXNB1 Nonsynonymous SNV V1947M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 238035 chr7 150698912 150698912 C T NOS3 Synonymous SNV A502A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 238036 chr19 15754840 15754840 C T rs537769366 CYP4F3 Nonsynonymous SNV R108W 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 238037 chr3 49698760 49698760 A G BSN Nonsynonymous SNV Y3161C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.15 238038 chr17 34171647 34171647 A G TAF15 Synonymous SNV G445G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.345 238039 chr3 51733426 51733426 G A rs761097253 TEX264 Nonsynonymous SNV R88Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 238040 chr4 8307714 8307714 G C rs141050955 HTRA3 Nonsynonymous SNV G405R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 238041 chr4 83765643 83765643 G A rs35579207 SEC31A Nonsynonymous SNV P802L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 24 238042 chr3 52548828 52548828 C A rs772563301 STAB1 Nonsynonymous SNV H1264N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 238043 chr7 157000597 157000597 A G rs148761004 UBE3C Nonsynonymous SNV M593V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 8.023 238044 chr7 195589 195589 C A rs201436002 FAM20C Nonsynonymous SNV S214Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.35 238045 chr15 91452594 91452594 C T rs142925505 MAN2A2 Stop gain Q412X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 238046 chr16 84066949 84066949 A C SLC38A8 Nonsynonymous SNV F172V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.42 238047 chr3 63996349 63996349 - ATTA rs758868081 PSMD6 Stop gain M351* 0 0 0 1 0 0 0.003 0 0 0 0 0 238048 chr4 96137342 96137342 C T rs774698598 UNC5C Nonsynonymous SNV A556T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 238049 chr7 23293913 23293913 G C GPNMB Nonsynonymous SNV E117Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 238050 chr17 6599254 6599254 T A SLC13A5 Nonsynonymous SNV K239N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 238051 chr5 111755990 111755990 C A rs181869449 EPB41L4A-DT 0 0 0.01 0 0 0 0 3 0 0 0 0 15.4 238052 chr3 97669669 97669669 G A rs201634045 RIOX2 Synonymous SNV D283D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.184 238053 chr16 8738455 8738455 C G rs370005826 METTL22 Nonsynonymous SNV A351G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 238054 chr5 112479049 112479049 C G rs138719533 MCC Nonsynonymous SNV Q60H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 238055 chr16 87446350 87446350 G A ZCCHC14 Synonymous SNV D659D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.075 238056 chr5 118485746 118485746 A T rs772794493 DMXL1 Nonsynonymous SNV L1408F 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 238057 chr19 2250985 2250985 A G rs201324658 AMH Nonsynonymous SNV T268A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.08 238058 chr19 32930765 32930765 A G rs141942381 DPY19L3 Synonymous SNV Q268Q 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 1.044 238059 chr7 41729706 41729706 C G INHBA Nonsynonymous SNV G275R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 238060 chr3 119276569 119276569 G A CD80 Nonsynonymous SNV H3Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 238061 chr10 5254672 5254674 CAA - rs781921844 AKR1C4 Q222del 0 0 0 1 0 0 0.003 0 0 0 0 0 238062 chr16 27472704 27472704 G A rs767473711 GTF3C1 Synonymous SNV H2074H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.49 238063 chr5 141243552 141243552 G A rs756654044 PCDH1 Nonsynonymous SNV R403W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 238064 chr19 36364547 36364547 C G APLP1 Nonsynonymous SNV R330G 0 0.005 0 0 0 2 0 0 0 0 0 0 31 238065 chr3 123988027 123988027 C T rs146360002 KALRN Synonymous SNV H296H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.694 238066 chr17 19552312 19552312 C G rs72547554 ALDH3A2 Nonsynonymous SNV Q10E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 238067 chr16 31500039 31500039 T C SLC5A2 Nonsynonymous SNV I409T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 238068 chr5 148709323 148709323 G A rs140900950 AFAP1L1 Synonymous SNV T602T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.86 238069 chr5 149677673 149677673 C T ARSI Nonsynonymous SNV E272K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 238070 chr7 72849516 72849516 G A rs61749862 FZD9 Synonymous SNV T393T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.023 238071 chr7 73151300 73151300 C A rs139322195 ABHD11 Synonymous SNV G201G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.56 238072 chr19 38590759 38590759 C T rs139605109 SIPA1L3 Nonsynonymous SNV T608M 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 34 238073 chr17 77082024 77082024 G T ENGASE Nonsynonymous SNV A609S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 238074 chr19 3909608 3909608 G C rs762664911 ATCAY Nonsynonymous SNV D258H 0 0.003 0 0 0 1 0 0 0 0 0 0 28 238075 chr17 263286 263286 G A rs71356791 C17orf97 Nonsynonymous SNV D218N 0 0.005 0 0 0 2 0 0 0 0 0 0 0.047 238076 chr17 56386359 56386359 C T rs755176883 TSPOAP1 Nonsynonymous SNV R1365Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 238077 chr3 135870806 135870806 A G rs371573341 MSL2 Nonsynonymous SNV L232P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.54 238078 chr10 8115836 8115836 C T rs149351039 GATA3 Synonymous SNV A395A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 238079 chr17 56569155 56569155 G A rs201618118 MTMR4 Nonsynonymous SNV P1153S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 238080 chr5 156957839 156957839 G A rs765350393 ADAM19 Nonsynonymous SNV T128M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 238081 chr3 139065779 139065779 A G rs200542439 MRPS22 Nonsynonymous SNV I37V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.53 238082 chr3 140997262 140997262 C T rs139938375 PXYLP1 Nonsynonymous SNV T53M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 238083 chr7 82785497 82785497 G C PCLO Nonsynonymous SNV P154A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 238084 chr3 149485791 149485791 C T rs201965685 ANKUB1 Nonsynonymous SNV E220K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 238085 chr16 57598957 57598957 C T rs761923326 ADGRG5 Synonymous SNV N147N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 238086 chr19 4200001 4200001 G A ANKRD24 Nonsynonymous SNV A85T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 238087 chr3 157823587 157823607 CCTCCGCCTCCTCCGCCGCCG - rs773977997 SHOX2 G71_G77del 0 0 0 1 0 0 0.003 0 0 0 0 0 238088 chr17 6589582 6589582 T C SLC13A5 Nonsynonymous SNV I505V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.128 238089 chr16 66946696 66946696 C T rs145669990 CDH16 Nonsynonymous SNV G288R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 238090 chr7 97872860 97872860 G A rs763791700 TECPR1 Synonymous SNV N192N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.59 238091 chr17 66982422 66982422 A G rs374638994 ABCA9 Nonsynonymous SNV L1364P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 238092 chr3 169846894 169846894 C T rs746848610 PHC3 Nonsynonymous SNV V444M 0 0 0 1 0 0 0.003 0 0 0 0 0 19.83 238093 chr18 21494725 21494725 C T rs145460785 LAMA3 Synonymous SNV P850P 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.956 238094 chr3 186504466 186504466 C T MIR1248, SNORA81 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 238095 chr3 186760725 186760725 C T rs377645864 ST6GAL1 Synonymous SNV L78L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.058 238096 chr16 70500137 70500137 C T rs373016439 FCSK Synonymous SNV L130L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 238097 chr11 126306786 126306786 G A rs778151336 KIRREL3 Nonsynonymous SNV A491V 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 22.8 238098 chr11 126316750 126316750 G T KIRREL3 Synonymous SNV S343S 0 0.005 0.003 3 0 2 0.008 1 0 0 0 0 4.396 238099 chr5 434679 434679 G A AHRR Synonymous SNV L612L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.904 238100 chr3 194118947 194118947 G A rs779182714 GP5 Nonsynonymous SNV P22L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 238101 chr8 119945254 119945254 C T rs746791412 TNFRSF11B Nonsynonymous SNV E106K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 238102 chr8 124382185 124382185 G A rs113160199 ATAD2 Synonymous SNV D269D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.08 238103 chr8 124382188 124382188 - TCG rs774121432 ATAD2 D277_E278insD 0 0 0 1 0 0 0.003 0 0 0 0 0 238104 chr16 780942 780942 C T rs147538611 CIAO3 Nonsynonymous SNV A365T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 238105 chr5 58652665 58652665 A G rs779751420 PDE4D Nonsynonymous SNV F3S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 238106 chr17 7484811 7484811 C T rs150041207 CD68 Synonymous SNV S322S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 238107 chr11 1085791 1085791 C T rs41527753 MUC2 Synonymous SNV T904T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.12 238108 chr19 49131505 49131505 G A rs532706673 SPHK2 Synonymous SNV A245A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.35 238109 chr8 141449194 141449194 C T rs776317177 TRAPPC9 Synonymous SNV S229S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.12 238110 chr16 84691058 84691058 G C KLHL36 Synonymous SNV L215L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.543 238111 chr18 56939622 56939622 T C RAX Nonsynonymous SNV K172E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.9 238112 chr16 85141686 85141686 T C FAM92B Nonsynonymous SNV K92R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 238113 chr8 143746398 143746398 G A rs150926040 JRK Synonymous SNV N360N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.438 238114 chr18 60646154 60646154 C T rs748230117 PHLPP1 Synonymous SNV D1548D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.803 238115 chr8 143832587 143832587 C T rs114021931 LYPD2 Synonymous SNV A20A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.236 238116 chr4 6279314 6279314 C A rs754346893 WFS1 Synonymous SNV P44P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.13 238117 chr4 7435875 7435875 C T rs182795537 PSAPL1 Synonymous SNV P244P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.28 238118 chr4 7436415 7436415 G A rs202190989 PSAPL1 Synonymous SNV C64C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.337 238119 chr11 118980852 118980852 C T rs761346580 C2CD2L Synonymous SNV L131L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 238120 chr19 50982322 50982322 G A rs750637693 EMC10 Nonsynonymous SNV R99Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 238121 chr19 51295012 51295012 C T rs149222498 ACP4 Nonsynonymous SNV R135C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.26 238122 chr16 88804648 88804648 C T rs188815734 PIEZO1 Nonsynonymous SNV G279S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 12.39 238123 chr16 88952423 88952423 G T rs143704547 CBFA2T3 Nonsynonymous SNV S194Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 238124 chr16 88952424 88952424 A C rs561624190 CBFA2T3 Nonsynonymous SNV S194A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.88 238125 chr18 77797480 77797480 T G RBFA Nonsynonymous SNV Y118D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 238126 chr4 26483637 26483637 T G rs201121639 CCKAR Nonsynonymous SNV N304H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 238127 chr6 107955777 107955777 C T rs200685194 SOBP Nonsynonymous SNV P577S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.647 238128 chr17 80195391 80195391 G A rs766909690 SLC16A3 Nonsynonymous SNV V249M 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 238129 chr17 80352258 80352258 C T OGFOD3 Nonsynonymous SNV A329T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 238130 chr6 109702720 109702720 C T CD164 Synonymous SNV K20K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.332 238131 chr19 52888074 52888074 - ATCATGAGGTCAGGAGATCGAGAC rs779596445 ZNF880 Stop gain K415_R577delinsS 0 0.003 0 0 0 1 0 0 0 0 0 0 238132 chr4 44626638 44626638 G A rs80199883 YIPF7 Synonymous SNV C220C 0 0 0 1 0 0 0.003 0 0 0 0 0 5.671 238133 chr4 47839958 47839958 - T rs199972616 CORIN Frameshift insertion S4Vfs*23 0 0 0 1 0 0 0.003 0 0 0 0 0 238134 chr17 1555070 1555070 G A rs138076455 PRPF8 Synonymous SNV L2128L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 5.668 238135 chr17 1640868 1640868 G A rs1033699843 WDR81 Synonymous SNV T702T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.399 238136 chr6 132171220 132171220 A G ENPP1 Nonsynonymous SNV D135G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 238137 chr19 54967857 54967857 G A rs369638873 LENG8 Synonymous SNV A496A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.29 238138 chr11 1606175 1606175 C T KRTAP5-1 Nonsynonymous SNV C102Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.408 238139 chr17 1840060 1840060 C T rs142643050 RTN4RL1 Synonymous SNV P352P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.358 238140 chr17 19241062 19241062 C G rs73980009 B9D1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 2.255 238141 chr17 19246676 19246676 G T B9D1 Nonsynonymous SNV Q191K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.156 238142 chr18 31319057 31319057 T G rs139696328 ASXL3 Synonymous SNV T563T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 238143 chr17 21101780 21101780 G A rs9906188 TMEM11 Synonymous SNV L146L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.316 238144 chr17 67023513 67023513 A - ABCA9 N623Kfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 238145 chr8 42611757 42611757 C T rs769005774 CHRNA6 Synonymous SNV V180V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.676 238146 chr12 52709755 52709755 T A rs769731414 KRT83 Nonsynonymous SNV Q395L 0 0 0 2 0 0 0.005 0 0 0 0 0 30 238147 chr4 81188221 81188221 G T rs112475347 FGF5 Nonsynonymous SNV W81C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 29.5 238148 chr8 55538611 55538611 A G rs764332705 RP1 Synonymous SNV G723G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.026 238149 chr4 83791494 83791494 T C rs143960227 SEC31A Nonsynonymous SNV N284S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 238150 chr4 85656251 85656251 G A rs754220010 WDFY3 Nonsynonymous SNV T2313I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 238151 chr17 26817882 26817882 G A rs782774839 SLC13A2 Nonsynonymous SNV E227K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 238152 chr17 72832530 72832530 G A rs138591374 TMEM104 Nonsynonymous SNV V399M 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 28.3 238153 chr8 70744422 70744422 T G rs1021092205 SLCO5A1 Nonsynonymous SNV K163Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 238154 chr11 2466535 2466535 G T rs587781009 KCNQ1 Synonymous SNV A69A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 7.424 238155 chr17 2866085 2866085 C T rs555349659 LOC101927911 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.118 238156 chr6 161575256 161575256 C T rs148294390 AGPAT4 Synonymous SNV S145S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 238157 chr8 77617490 77617490 G C rs775211934 ZFHX4 Synonymous SNV S389S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.012 238158 chr8 77618838 77618838 C T ZFHX4 Nonsynonymous SNV P839S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 238159 chr4 99807682 99807682 T C rs201302296 EIF4E Nonsynonymous SNV M139V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.001 238160 chr17 73498561 73498561 C T rs752399507 CASKIN2 Nonsynonymous SNV R783H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.4 238161 chr18 57136732 57136732 G A rs147208835 CCBE1 Nonsynonymous SNV R125W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 238162 chr12 29446442 29446442 C - rs752696750 LOC100506606 0.003 0 0 0 3 0 0 0 0 0 0 0 238163 chr4 100463166 100463166 C G rs371476916 C4orf17 Nonsynonymous SNV T327S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.05 238164 chr17 73751175 73751175 C T rs140501692 ITGB4 Nonsynonymous SNV P1463L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.66 238165 chr6 168227347 168227347 G A rs138026004 AFDN-DT 0 0 0.014 0 0 0 0 4 0 0 0 0 9.337 238166 chr4 100543977 100543977 C T rs144600401 MTTP Nonsynonymous SNV P913L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 238167 chr4 100571531 100571531 T C rs79445642 C4orf54 Synonymous SNV S1425S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.034 238168 chr8 8749555 8749555 G A rs375992541 MFHAS1 Synonymous SNV I338I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.67 238169 chr6 170697478 170697478 C T rs148860500 FAM120B Nonsynonymous SNV T128M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.619 238170 chr8 88363926 88363926 T A CNBD1 Nonsynonymous SNV S352R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 238171 chr8 94746897 94746897 - GCCTGAAGTCCTCTGGGGAGT rs774362274 RBM12B R580_R581insHSPEDFR 0 0 0 1 0 0 0.003 0 0 0 0 0 238172 chr6 24447166 24447166 C T rs140138874 GPLD1 Nonsynonymous SNV E574K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 238173 chr12 39701512 39701512 G A KIF21A Nonsynonymous SNV L1396F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.9 238174 chr18 6958610 6958610 G T rs374593621 LAMA1 Synonymous SNV G2610G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.08 238175 chr17 75208130 75208130 G A rs202169419 SEC14L1 Synonymous SNV S536S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.417 238176 chr6 26056587 26056587 C T rs201637343 HIST1H1C Nonsynonymous SNV A24T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 238177 chr17 76109659 76109659 T C TMC6 Nonsynonymous SNV Y775C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 26.9 238178 chr6 2766630 2766630 C G rs78197478 WRNIP1 Synonymous SNV T258T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 2.878 238179 chr4 123542165 123542165 A G IL21 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.84 238180 chr9 109691020 109691020 C T rs199737173 ZNF462 Synonymous SNV S1609S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.435 238181 chr6 35088309 35088309 T C rs371115731 TCP11 Nonsynonymous SNV N136S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 238182 chr17 78024061 78024061 G A rs199564182 CCDC40 Nonsynonymous SNV A380T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.19 238183 chr4 141543416 141543416 T C TBC1D9 Nonsynonymous SNV N1245S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.234 238184 chr17 39150213 39150213 G A rs202056314 KRTAP3-3 Nonsynonymous SNV T46I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 238185 chr6 36260882 36260882 C T PNPLA1 Synonymous SNV I66I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 238186 chr17 78358889 78358889 A C RNF213 Nonsynonymous SNV Q4791H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 238187 chr9 116122824 116122824 G A rs749516228 BSPRY Nonsynonymous SNV R113Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 238188 chr9 116279879 116279879 A G rs775479162 RGS3 Nonsynonymous SNV Y297C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 238189 chr9 117118256 117118256 G A rs555086524 AKNA Nonsynonymous SNV R884W 0 0 0 1 0 0 0.003 0 0 0 0 0 15.18 238190 chr17 79095756 79095756 G A rs55881512 AATK Synonymous SNV G557G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.624 238191 chr9 117138803 117138803 C T rs748410703 AKNA Synonymous SNV R309R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 238192 chr9 117808796 117808796 C T rs753076076 TNC Nonsynonymous SNV R1673H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 238193 chr19 13051402 13051402 C G rs144562269 CALR Synonymous SNV P250P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.91 238194 chr19 14674826 14674826 C T TECR Synonymous SNV F100F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 238195 chr17 42453072 42453072 G T rs149468422 ITGA2B Nonsynonymous SNV L872M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.7 238196 chr17 42457495 42457495 G A rs143967758 ITGA2B Nonsynonymous SNV R543W 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.5 238197 chr19 9213246 9213246 A G rs140942340 OR7G2 Nonsynonymous SNV V246A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.5 238198 chr9 127644180 127644180 C G GOLGA1 Nonsynonymous SNV E673D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 238199 chr4 186560165 186560165 G T SORBS2 Nonsynonymous SNV P323T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.86 238200 chr4 187026258 187026259 TC - rs536692165 FAM149A L12Gfs*88 0 0 0.003 1 0 0 0.003 1 0 0 0 0 238201 chr6 52874266 52874266 G T ICK Nonsynonymous SNV T531K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 238202 chr6 52874267 52874267 T C ICK Nonsynonymous SNV T531A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.618 238203 chr6 53141824 53141824 C T rs528783993 MIR5685 0 0 0.003 0 0 0 0 1 0 0 0 0 3.798 238204 chr6 53141845 53141845 A T MIR5685 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 238205 chr12 111070357 111070357 C A rs752181429 TCTN1 Nonsynonymous SNV N235K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 29.1 238206 chr12 56822046 56822046 G A rs780609439 TIMELESS Nonsynonymous SNV R517W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 238207 chr6 56919090 56919090 T A KIAA1586 Nonsynonymous SNV F571Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 238208 chr17 4622647 4622647 G C rs760586057 ARRB2 Synonymous SNV R91R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.296 238209 chr9 131076103 131076103 T C rs375919560 TRUB2 Synonymous SNV V104V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.732 238210 chr6 6267039 6267039 C T rs145761347 F13A1 Nonsynonymous SNV R108H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 238211 chr6 72984129 72984129 A G rs992250775 RIMS1 Nonsynonymous SNV N547S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 238212 chr19 17394746 17394746 G A ANKLE1 Synonymous SNV Q391Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.649 238213 chr6 74161679 74161679 C T rs987846250 CGAS Nonsynonymous SNV A76T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 238214 chr6 76022611 76022611 G C FILIP1 Synonymous SNV S979S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.36 238215 chr9 133995669 133995669 T C rs112778089 AIF1L Nonsynonymous SNV V138A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 238216 chr12 121764971 121764971 C T rs116227311 ANAPC5 Synonymous SNV A344A 0 0 0 2 0 0 0.005 0 0 0 0 0 15.55 238217 chr6 83847032 83847032 A G rs374062903 DOP1A Nonsynonymous SNV M1082V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.418 238218 chr17 55075755 55075755 G A SCPEP1 Nonsynonymous SNV C297Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 238219 chr9 136325223 136325223 C T CACFD1 Nonsynonymous SNV A12V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.618 238220 chr17 56682363 56682363 T C rs141909757 TEX14 Nonsynonymous SNV M444V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 238221 chr7 100084686 100084686 G A NYAP1 Nonsynonymous SNV G104D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 238222 chr1 11718896 11718896 A G rs924300706 FBXO44 Nonsynonymous SNV H156R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.8 238223 chr5 37167274 37167274 C T rs137899908 CPLANE1 Synonymous SNV A2425A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 19.22 238224 chr5 38338807 38338807 A G rs184744980 EGFLAM Nonsynonymous SNV Y72C 0 0 0.007 1 0 0 0.003 2 0 0 0 0 25.5 238225 chr5 40853556 40853556 C G rs139926562 CARD6 Nonsynonymous SNV Q708E 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.001 238226 chr19 21607521 21607521 G T ZNF493 Nonsynonymous SNV C559F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 238227 chr9 140277779 140277779 G A rs576047959 EXD3 Nonsynonymous SNV R36W 0 0 0 1 0 0 0.003 0 0 0 0 0 22 238228 chr9 140328778 140328778 G A rs76775006 NOXA1 Nonsynonymous SNV R417H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.072 238229 chr5 64824970 64824970 A G rs145897680 CENPK Synonymous SNV N115N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.976 238230 chr5 65084210 65084210 G A rs144525812 NLN Nonsynonymous SNV M408I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.26 238231 chr9 20781895 20781895 A G rs774335670 FOCAD Nonsynonymous SNV I388M 0 0 0 1 0 0 0.003 0 0 0 0 0 19.53 238232 chr9 21350748 21350748 T C rs190705153 IFNA6 Nonsynonymous SNV I47V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.386 238233 chr5 74921711 74921711 C A rs961020199 ANKDD1B Nonsynonymous SNV S177R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.24 238234 chr13 103388591 103388591 C T rs545394796 CCDC168 Nonsynonymous SNV R4819H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.231 238235 chr13 36220467 36220467 G A rs370207947 NBEA Synonymous SNV R356R 0 0 0 5 0 0 0.013 0 0 0 0 0 7.79 238236 chr9 32632775 32632775 C T rs147439010 TAF1L Nonsynonymous SNV E935K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 238237 chr9 32633225 32633225 G T TAF1L Synonymous SNV R785R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.21 238238 chr5 86627241 86627241 A G rs752280214 RASA1 Nonsynonymous SNV I206V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 238239 chr11 59406664 59406664 C T PATL1 Synonymous SNV E716E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.54 238240 chr19 36643306 36643306 G A COX7A1 Stop gain Q2X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 238241 chr19 36643307 36643307 C A COX7A1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 238242 chr5 89986659 89986659 C T rs781279499 ADGRV1 Nonsynonymous SNV S2251L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 238243 chr17 73625839 73625839 C - RECQL5 E632Dfs*41 0.001 0.003 0 0 1 1 0 0 0 0 0 0 238244 chr19 12222470 12222470 C T ZNF788P Synonymous SNV N36N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 2.171 238245 chr17 74010537 74010537 G A rs139911166 EVPL Synonymous SNV S803S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.52 238246 chr1 156507022 156507022 T C rs768238598 IQGAP3 Nonsynonymous SNV M1125V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.006 238247 chr11 61254082 61254082 A G PPP1R32 Synonymous SNV R258R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.604 238248 chr19 1460259 1460259 G A rs375117780 APC2 Synonymous SNV A460A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.313 238249 chr5 96498904 96498904 C T rs34555783 RIOK2 Nonsynonymous SNV R507H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 34 238250 chr11 61730555 61730555 G A rs371205126 BEST1 Synonymous SNV S537S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.66 238251 chr5 101755720 101755720 C A rs780055987 SLCO6A1 Nonsynonymous SNV V366F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 238252 chr19 15354069 15354069 C T rs374518582 BRD4 Synonymous SNV K937K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.28 238253 chr7 134617927 134617927 G A rs75358773 CALD1 Nonsynonymous SNV R130K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.41 238254 chr19 41209688 41209688 C T rs116013644 COQ8B Nonsynonymous SNV A176T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 238255 chr7 14188788 14188788 C T rs78008037 DGKB Nonsynonymous SNV V776I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.79 238256 chr1 161093687 161093687 A G rs772691525 DEDD Synonymous SNV Y125Y 0 0.005 0 0 0 2 0 0 0 0 0 0 0.016 238257 chr5 132223218 132223218 T C rs141975451 AFF4 Synonymous SNV V1000V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.906 238258 chr11 65361147 65361147 G A rs758293278 KCNK7 Nonsynonymous SNV A173V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.281 238259 chrX 107976158 107976158 C A rs777547295 IRS4 Synonymous SNV A1139A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.6 238260 chr5 135394784 135394784 G A rs760789364 TGFBI Nonsynonymous SNV A562T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 238261 chr17 79875988 79875988 C T rs765331941 SIRT7 Nonsynonymous SNV S7N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 238262 chr1 162824753 162824753 G A rs201168794 CCDC190 Synonymous SNV F237F 0 0.005 0 0 0 2 0 0 0 0 0 0 8.167 238263 chr5 137715354 137715354 A G rs780079738 KDM3B Nonsynonymous SNV H221R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.195 238264 chr14 20711524 20711524 G C rs142588807 OR11H4 Nonsynonymous SNV D192H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 238265 chrX 123025125 123025125 A G rs779388079 XIAP Nonsynonymous SNV I339V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.524 238266 chrX 12734553 12734553 G A rs760858730 FRMPD4 Nonsynonymous SNV A619T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.28 238267 chr7 151097210 151097210 C T rs757842380 WDR86 Nonsynonymous SNV R94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 238268 chr17 8064956 8064956 G A rs764319250 VAMP2 Synonymous SNV L86L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.341 238269 chrX 12937237 12937237 C T rs5744078 TLR8 Synonymous SNV A26A 0 0 0.007 1 0 0 0.003 2 0 0 1 0 11.4 238270 chrX 12939246 12939246 G A rs368213008 TLR8 Nonsynonymous SNV R696H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 238271 chr7 1519140 1519140 C T rs761392257 INTS1 Nonsynonymous SNV G1419S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 238272 chr19 18502878 18502878 A G rs374413035 LRRC25 Synonymous SNV A279A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.31 238273 chr19 18677944 18677944 C T rs778930671 KXD1 Nonsynonymous SNV T86M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.65 238274 chr5 140348950 140348950 C T rs190730712 PCDHAC2 Nonsynonymous SNV H867Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.641 238275 chr5 140433190 140433190 T C rs31738 PCDHB1 Nonsynonymous SNV I712T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.12 238276 chr19 2046649 2046649 G A rs919109829 MKNK2 Synonymous SNV P31P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 238277 chr1 173450586 173450586 A G rs370697515 PRDX6 Nonsynonymous SNV I73V 0 0.005 0 0 0 2 0 0 0 0 0 0 2.226 238278 chr19 4523861 4523861 G A rs117277377 PLIN5 Synonymous SNV C357C 0.002 0 0 0 2 0 0 0 0 0 0 0 9.505 238279 chr5 141248176 141248176 G A rs113377459 PCDH1 Synonymous SNV A303A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14 238280 chrX 153925413 153925413 A G rs200524211 GAB3 Nonsynonymous SNV V474A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.44 238281 chr18 21483061 21483061 C T rs763137413 LAMA3 Nonsynonymous SNV A432V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.896 238282 chrX 19413308 19413308 G A rs76689000 MAP3K15 Synonymous SNV H695H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.589 238283 chrX 19482342 19482342 G A rs55807380 MAP3K15 Synonymous SNV H236H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 238284 chr5 147040754 147040754 T G JAKMIP2 Nonsynonymous SNV K86N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 238285 chr5 147499901 147499918 AGGAGCAATACAGGAGAA - rs554634510 SPINK5 T838_N843del 0 0 0 1 0 0 0.003 0 0 0 0 0 238286 chrX 30326659 30326659 G C rs753734546 NR0B1 Nonsynonymous SNV C274W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 238287 chr11 763399 763399 G C TALDO1 Nonsynonymous SNV A173P 0 0 0 1 0 0 0.003 0 0 0 0 0 27 238288 chr19 3544710 3544710 A C rs895371255 MFSD12 X472G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.094 238289 chrX 47058934 47058934 G A rs782237056 UBA1 Nonsynonymous SNV R134H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 238290 chr7 41729529 41729529 C T rs138538132 INHBA Nonsynonymous SNV G334S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 238291 chr7 4213951 4213951 C T rs140602039 SDK1 Nonsynonymous SNV T120M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.594 238292 chr11 792579 792579 G A rs77117049 SLC25A22 Synonymous SNV Y187Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.03 238293 chr1 18808559 18808559 C A rs199774980 KLHDC7A Synonymous SNV R362R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.998 238294 chr19 57640233 57640233 C T rs759804630 USP29 Nonsynonymous SNV H64Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 238295 chr7 45744137 45744137 C T rs138777362 ADCY1 Synonymous SNV Y913Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.73 238296 chr7 45753521 45753521 C T ADCY1 Nonsynonymous SNV S1096L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 238297 chr5 154396547 154396547 A G rs771863385 KIF4B Nonsynonymous SNV D1043G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.13 238298 chr5 155771510 155771510 G C rs549319429 SGCD Nonsynonymous SNV E4D 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 22.3 238299 chr11 840474 840474 C T rs111499136 POLR2L Synonymous SNV A34A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 238300 chrX 72433663 72433663 - TCC rs754402246 NAP1L2 E221_D222insE 0 0 0 1 0 0 0.003 0 0 0 0 0 238301 chrX 77268415 77268415 G A rs782389012 ATP7A Nonsynonymous SNV A738T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 238302 chr5 161576318 161576318 C T GABRG2 Nonsynonymous SNV P376L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 238303 chr7 4959821 4959821 A G rs370505260 MMD2 Nonsynonymous SNV W91R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 238304 chr18 60985715 60985715 G A rs747696230 BCL2 Nonsynonymous SNV S62F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.952 238305 chr10 102789904 102789904 G A PDZD7 Nonsynonymous SNV L25F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 238306 chr7 73245629 73245629 C T rs564064512 CLDN4 Nonsynonymous SNV T33M 0 0 0.007 0 0 0 0 2 0 0 0 0 29.6 238307 chr1 205493437 205493437 C T rs372964346 CDK18 Synonymous SNV S117S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.48 238308 chr18 74153833 74153833 G A rs779119734 ZNF516 Nonsynonymous SNV A393V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.018 238309 chr19 43965794 43965794 G A rs202244672 LYPD3 Synonymous SNV A250A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.737 238310 chr19 44048318 44048318 G A rs766315993 XRCC1 Stop gain R564X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 238311 chr1 2116395 2116395 G A rs144015632 PRKCZ Nonsynonymous SNV E393K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 25.4 238312 chr10 116620633 116620633 C T rs140699007 FAM160B1 Synonymous SNV F691F 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 17.69 238313 chr7 96635364 96635366 GCA - rs748226556 DLX6 Q44del 0 0 0.003 0 0 0 0 1 0 0 0 0 238314 chr7 98460998 98460998 G A rs141390323 TMEM130 Synonymous SNV T37T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.53 238315 chr6 13616710 13616710 C T rs150690716 NOL7 Nonsynonymous SNV P115S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 238316 chr8 103220392 103220392 T C RRM2B Nonsynonymous SNV D290G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 238317 chr8 105456622 105456622 C T rs144263358 DPYS Nonsynonymous SNV G216D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 238318 chr1 225266922 225266922 C G DNAH14 Stop gain S813X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 238319 chr19 55648559 55648559 G A rs780372739 TNNT1 Nonsynonymous SNV R164W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 33 238320 chr8 11710202 11710202 G A rs149724176 CTSB Synonymous SNV A43A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.36 238321 chr19 48867165 48867165 G T rs199932734 TMEM143 Nonsynonymous SNV L5I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 238322 chr19 15226199 15226199 A T rs145234551 ILVBL Nonsynonymous SNV L588Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 238323 chr8 139606406 139606406 G A rs138310793 COL22A1 Nonsynonymous SNV A1490V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.65 238324 chr6 42892962 42892962 G A rs199980862 PTCRA Nonsynonymous SNV G145R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.602 238325 chr10 13523026 13523026 A G rs868449745 BEND7 Synonymous SNV F273F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.721 238326 chr6 43188511 43188511 T C rs41274934 CUL9 Synonymous SNV Y2150Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.441 238327 chr8 143695045 143695045 C A ARC Synonymous SNV P196P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.816 238328 chr19 17305967 17305967 G A rs753361032 MYO9B Nonsynonymous SNV R1244K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 238329 chr19 51525816 51525816 C T rs146244352 KLK11 Synonymous SNV T246T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 238330 chr19 6374526 6374526 G A ALKBH7 Nonsynonymous SNV M143I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 238331 chr8 145694925 145694925 G T rs146293846 KIFC2 Synonymous SNV V425V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.451 238332 chr12 25157394 25157394 A C rs144965784 LOC645177 Nonsynonymous SNV K40T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.219 238333 chr8 145694926 145694926 A C rs138218609 KIFC2 Nonsynonymous SNV S426R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.47 238334 chr19 6746545 6746545 G A rs200472405 TRIP10 Nonsynonymous SNV R356H 0.001 0 0 0 1 0 0 0 0 0 0 0 30 238335 chr8 146107479 146107479 C T rs146692139 ZNF250 Synonymous SNV T347T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.7 238336 chr8 19681436 19681436 G T rs190252104 INTS10 Nonsynonymous SNV K10N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 238337 chr8 22865106 22865106 C T rs369779273 RHOBTB2 Nonsynonymous SNV H457Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 238338 chr12 45429866 45429866 C T rs933265525 DBX2 Synonymous SNV P145P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.46 238339 chr6 107100153 107100153 A G QRSL1 Synonymous SNV K209K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.239 238340 chr6 108768460 108768460 G A rs748534709 AFG1L Nonsynonymous SNV R284Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 238341 chr8 27309026 27309026 C T rs41276293 PTK2B Synonymous SNV L808L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.199 238342 chr10 58120962 58120962 G T rs765373792 ZWINT Synonymous SNV A12A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.59 238343 chr19 9012778 9012778 C A MUC16 Nonsynonymous SNV G12889V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 238344 chr10 64565137 64565137 C G rs775630587 ADO Synonymous SNV G106G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 238345 chr19 36211907 36211907 A G rs750985731 KMT2B Nonsynonymous SNV K553R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 238346 chr10 71160840 71160840 C T rs777452969 HK1 Synonymous SNV A869A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 238347 chr15 72668147 72668147 G A rs955535343 HEXA Nonsynonymous SNV P56L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 238348 chr1 29586468 29586468 G A PTPRU Synonymous SNV V254V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.14 238349 chr8 67039580 67039580 G A TRIM55 Nonsynonymous SNV C26Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 238350 chr6 132938853 132938853 T C rs201800311 TAAR2 Synonymous SNV L119L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 238351 chr1 10719934 10719934 C A rs145422074 CASZ1 Nonsynonymous SNV V389F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 238352 chr6 139222140 139222140 G A rs779930385 ECT2L Nonsynonymous SNV V824I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 238353 chr10 73521404 73521404 G A rs781273917 VSIR Synonymous SNV H154H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.918 238354 chr1 109656921 109656921 C T rs748215550 KIAA1324 Nonsynonymous SNV T39I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 238355 chr12 53693962 53693969 CCGAAAAA - C12orf10 E83Rfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 238356 chr12 53693970 53693970 - TT C12orf10 Frameshift insertion A86Sfs*32 0 0 0 1 0 0 0.003 0 0 0 0 0 238357 chr15 80450470 80450470 T C rs186471906 FAH Synonymous SNV F50F 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.921 238358 chr6 152728322 152728322 T C rs765343767 SYNE1 Nonsynonymous SNV K2191E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.5 238359 chr9 101599421 101599421 T C rs140977555 GALNT12 Synonymous SNV R401R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.984 238360 chr9 103014608 103014608 G A rs140255233 INVS Synonymous SNV K48K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.46 238361 chr15 72582287 72582290 GTCC - CELF6 R83Pfs*42 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 238362 chr6 160189589 160189589 T A rs751109778 ACAT2 Nonsynonymous SNV M169K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.637 238363 chr15 75503449 75503449 C T C15orf39 Nonsynonymous SNV H1046Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 19.35 238364 chr6 161016564 161016564 G A rs369590867 LPA Synonymous SNV G1097G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.92 238365 chr15 78526817 78526817 G A rs146159531 ACSBG1 Synonymous SNV Y9Y 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.282 238366 chr10 98405371 98405371 C T rs760007926 PIK3AP1 Nonsynonymous SNV G412R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.8 238367 chr19 4324178 4324178 C T rs766001944 STAP2 Synonymous SNV T388T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 238368 chr19 7764262 7764262 C T rs566821189 FCER2 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 9.705 238369 chr7 4799148 4799148 C T FOXK1 Nonsynonymous SNV L540F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 238370 chr12 81004358 81004358 A G PTPRQ Synonymous SNV V1452V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.144 238371 chr11 10514930 10514930 A G rs147246880 AMPD3 Nonsynonymous SNV N166S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 16.36 238372 chr15 98504229 98504229 G A rs200108685 ARRDC4 Synonymous SNV A46A 0.003 0.003 0.003 2 4 1 0.005 1 0 0 0 0 12.9 238373 chr9 131197975 131197975 T G rs753075107 CERCAM Nonsynonymous SNV F449V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 238374 chr9 131197976 131197976 T C rs758697542 CERCAM Nonsynonymous SNV F449S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 238375 chr9 131395579 131395579 A G SPTAN1 Nonsynonymous SNV Y2442C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 238376 chr11 117162378 117162378 T G rs756577849 BACE1-AS 0 0 0 1 0 0 0.003 0 0 0 0 0 8.277 238377 chr7 33185959 33185959 A G rs766448677 BBS9 Nonsynonymous SNV N32S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 238378 chr16 19775403 19775403 A C rs149444739 IQCK Nonsynonymous SNV I104L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 27.9 238379 chr1 9322230 9322230 G A rs772800106 H6PD Synonymous SNV A297A 0 0.005 0 0 0 2 0 0 0 0 0 0 11.96 238380 chr16 16272676 16272676 A G ABCC6 Synonymous SNV P798P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.018 238381 chr13 21746609 21746609 A G rs148733266 SKA3 Nonsynonymous SNV L67S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.95 238382 chr1 166816799 166816799 G A rs778039222 POGK Nonsynonymous SNV E110K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 238383 chr16 24816407 24816407 - AA TNRC6A Frameshift insertion P1305Nfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 238384 chr1 169500173 169500173 C T rs201556325 F5 Nonsynonymous SNV E1687K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 238385 chr7 55238219 55238219 G A rs778870778 EGFR Synonymous SNV T700T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.167 238386 chr19 52249809 52249809 T C rs183314714 FPR1 Nonsynonymous SNV I147V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.001 238387 chr16 30035198 30035198 T C rs184570205 C16orf92 Nonsynonymous SNV I72T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 238388 chr1 169816883 169816883 G A rs146693956 C1orf112 Nonsynonymous SNV R343H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 238389 chr16 30544291 30544291 G T rs753272254 ZNF747 Synonymous SNV V175V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.634 238390 chr9 27949556 27949556 T G LINGO2 Nonsynonymous SNV T372P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 238391 chr1 222803240 222803240 G T MIA3 Nonsynonymous SNV G893V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 238392 chr16 31089030 31089030 A T rs368875748 ZNF646 Nonsynonymous SNV H462L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.41 238393 chr9 33463255 33463255 G A rs116537880 NOL6 Nonsynonymous SNV T1060M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 238394 chr9 33466952 33466952 A G rs78087543 NOL6 Synonymous SNV Y636Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 1.793 238395 chr9 33467469 33467469 G C rs116483202 NOL6 Nonsynonymous SNV L550V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.53 238396 chr11 14504655 14504655 C T rs777777654 COPB1 Nonsynonymous SNV D294N 0 0 0 1 0 0 0.003 0 0 0 0 0 35 238397 chr16 31475877 31475877 C T rs775473200 ARMC5 Synonymous SNV P511P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.5 238398 chr1 150531458 150531458 G A rs150680122 ADAMTSL4 Synonymous SNV T860T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 13.52 238399 chr9 35399659 35399659 G A rs185611344 UNC13B Nonsynonymous SNV R971Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 238400 chr9 35724273 35724273 C T rs374398737 TLN1 Synonymous SNV T190T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 238401 chr1 227335084 227335084 T C rs56311356 CDC42BPA Synonymous SNV T290T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 4.11 238402 chr9 71836378 71836378 C T rs374523970 TJP2 Synonymous SNV I310I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.63 238403 chr11 20005785 20005785 C T rs143699420 NAV2 Synonymous SNV D856D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.86 238404 chr19 55536615 55536615 A G GP6 Nonsynonymous SNV L212S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 238405 chr1 155152203 155152203 C T rs749788284 TRIM46 Nonsynonymous SNV H335Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 238406 chr19 55872469 55872469 C T FAM71E2 Synonymous SNV A219A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.276 238407 chr19 56011335 56011335 G T rs926973579 SSC5D Nonsynonymous SNV A620S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 238408 chr14 103148281 103148281 C A RCOR1 Synonymous SNV V137V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.36 238409 chrM 1346 1346 T C RNR1 0 0 0.003 0 0 0 0 1 0 0 0 0 238410 chrM 2444 2444 T C RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 238411 chrM 829 829 A G RNR1 0 0 0.014 0 0 0 0 4 0 0 2 0 238412 chr1 235840467 235840467 C T LYST Synonymous SNV L3654L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.49 238413 chrX 100745080 100745080 G A rs782351023 ARMCX4 Nonsynonymous SNV E502K 0 0 0.01 2 0 0 0.005 3 0 0 1 1 23.7 238414 chrX 106843820 106843820 C T FRMPD3 Nonsynonymous SNV P884S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.444 238415 chr20 43726354 43726354 G C rs779459871 KCNS1 Synonymous SNV L353L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.191 238416 chr16 70534916 70534916 C A rs151063921 COG4 Nonsynonymous SNV R376S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 238417 chrX 129147642 129147642 G A rs752016473 BCORL1 Synonymous SNV S298S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.68 238418 chr19 58551868 58551868 G A rs147981030 ZSCAN1 Nonsynonymous SNV E141K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 238419 chr19 5918537 5918537 C A RANBP3 Nonsynonymous SNV E408D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 238420 chr11 45992855 45992855 T G PHF21A Nonsynonymous SNV T142P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 238421 chrX 138689859 138689859 A G rs775477554 MCF2 Nonsynonymous SNV V455A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.901 238422 chrX 139174240 139174240 C G rs5955386 LOC389895 Synonymous SNV V113V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.012 238423 chr19 6441996 6441996 G A rs753323405 SLC25A23 Nonsynonymous SNV T466M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 238424 chr1 204198114 204198114 C T rs141091321 PLEKHA6 Nonsynonymous SNV R901H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 238425 chr19 6665335 6665335 C T rs760409786 TNFSF14 Nonsynonymous SNV G73R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.59 238426 chrX 152137992 152137992 A G rs782034375 ZNF185 Synonymous SNV E283E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 238427 chrX 153032826 153032826 G A rs868950741 PLXNB3 Nonsynonymous SNV G182S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.937 238428 chr1 205631064 205631064 G T SLC45A3 Synonymous SNV A383A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.08 238429 chr7 126883133 126883133 C T GRM8 Synonymous SNV V42V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.714 238430 chr1 167666696 167666696 G A rs774069655 RCSD1 Nonsynonymous SNV E225K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.204 238431 chrX 2994676 2994676 C T rs189174750 ARSF Synonymous SNV S83S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 238432 chrX 40691240 40691240 G T rs188117767 LOC100132831 0 0 0.003 0 0 0 0 1 0 0 0 0 4.242 238433 chrX 40691663 40691663 C A rs149110072 LOC100132831 0 0 0.003 0 0 0 0 1 0 0 0 0 8.477 238434 chrX 40691761 40691761 G C rs5963871 LOC100132831 0 0 0.003 0 0 0 0 1 0 0 0 0 0.819 238435 chr20 61940004 61940004 G A rs758363929 COL20A1 Nonsynonymous SNV V296M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 238436 chr20 61981253 61981253 C T rs201244483 CHRNA4 Nonsynonymous SNV G504S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 3.743 238437 chr7 140394599 140394599 C T rs55922126 ADCK2 Nonsynonymous SNV P626L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.5 238438 chr16 89294191 89294191 C T ZNF778 Nonsynonymous SNV H471Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 26 238439 chrX 69665355 69665355 G A rs11797456 DLG3 Nonsynonymous SNV G102S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.36 238440 chr16 89294850 89294850 A G ZNF778 Synonymous SNV E690E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.396 238441 chr1 21924522 21924522 A C RAP1GAP Nonsynonymous SNV L703V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 238442 chr11 5363926 5363926 C T rs757159468 OR51B5 Nonsynonymous SNV A277T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.63 238443 chr7 142573547 142573547 G A TRPV6 Synonymous SNV S331S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 238444 chrX 84310840 84310840 T C rs752654146 APOOL Synonymous SNV Y101Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.097 238445 chr1 32120423 32120423 T C rs200496074 COL16A1 Nonsynonymous SNV I1443V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 238446 chr1 222801120 222801120 A G MIA3 Synonymous SNV S186S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.224 238447 chr17 1540136 1540136 G A rs142542545 SCARF1 Synonymous SNV D500D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 1.28 238448 chr7 148876081 148876081 G A rs141689743 ZNF398 Nonsynonymous SNV A373T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.37 238449 chr1 36432593 36432593 A G rs765564285 AGO3 Nonsynonymous SNV T77A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.33 238450 chr7 153584814 153584814 G A DPP6 Nonsynonymous SNV V16M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 238451 chr8 1497026 1497026 C T rs776439807 DLGAP2 Nonsynonymous SNV S136L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 238452 chr17 4805262 4805262 G A rs139625105 CHRNE Synonymous SNV F155F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 11 238453 chr1 228538635 228538635 C T rs140996408 OBSCN Nonsynonymous SNV P6137L 0.005 0 0 1 6 0 0.003 0 0 0 0 0 29.7 238454 chr8 2967757 2967757 C T rs898513 CSMD1 Synonymous SNV T2177T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.64 238455 chr10 116719498 116719498 T C rs62623677 TRUB1 Nonsynonymous SNV I152T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.458 238456 chr10 122358342 122358342 G C rs4752442 LINC01561 0 0 0.007 0 0 0 0 2 0 0 1 0 0.566 238457 chr8 10480131 10480131 T C rs780322768 RP1L1 Nonsynonymous SNV K194R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.6 238458 chr21 45651265 45651265 C T ICOSLG, LOC102723996 Nonsynonymous SNV A137T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.866 238459 chr1 115319062 115319062 C G rs141025380 SIKE1 Nonsynonymous SNV D147H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 238460 chr10 124802675 124802675 C T rs150619709 ACADSB Synonymous SNV F163F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.41 238461 chr8 17612948 17612948 G C MTUS1 Synonymous SNV S123S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.508 238462 chr8 17797225 17797225 G A rs200080883 PCM1 Nonsynonymous SNV R213H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 28.7 238463 chr8 21981255 21981255 A G rs751904888 HR Nonsynonymous SNV F608L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 238464 chr10 134732881 134732881 G A rs746193737 CFAP46 Nonsynonymous SNV T599M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 238465 chr1 58946724 58946724 C T rs772858754 OMA1 Synonymous SNV T496T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.767 238466 chr11 58919968 58919968 C G FAM111A Nonsynonymous SNV A276G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.362 238467 chr17 27909970 27909970 C T GIT1 Nonsynonymous SNV R91H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 238468 chr17 32483027 32483027 C T rs775527566 ASIC2 Synonymous SNV G175G 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.76 238469 chr11 59623354 59623354 C T rs72550758 TCN1 Nonsynonymous SNV V309I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 23 238470 chr10 16996516 16996516 C T rs201923548 CUBN Nonsynonymous SNV R1576H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 238471 chr22 21213632 21213632 C G rs144160898 SNAP29 Synonymous SNV S78S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 10.99 238472 chr22 21983893 21983893 G A rs377651393 YDJC Stop gain Q108X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 238473 chr10 27035322 27035322 G A rs771476505 PDSS1 Nonsynonymous SNV E220K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.8 238474 chr8 30705168 30705168 G A rs147204143 TEX15 Synonymous SNV L839L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.545 238475 chr8 37729386 37729386 G A rs202069601 RAB11FIP1 Synonymous SNV D978D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.289 238476 chr1 15287271 15287271 G A rs149192185 KAZN Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.007 238477 chr8 38832227 38832227 T C rs774014608 HTRA4 Nonsynonymous SNV W149R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.056 238478 chr1 153271638 153271638 A G rs35460167 PGLYRP3 Synonymous SNV Y266Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.768 238479 chr11 62334373 62334373 C G rs367830508 EEF1G Synonymous SNV A254A 0.003 0.005 0 3 3 2 0.008 0 0 0 0 0 11.13 238480 chr8 61655020 61655020 C T rs570815501 CHD7 Synonymous SNV S343S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.18 238481 chr8 61734587 61734587 G A rs768481542 CHD7 Nonsynonymous SNV R947Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 238482 chr11 62435132 62435134 TCT - rs566996567 LBHD1 E159del 0.001 0 0 3 1 0 0.008 0 0 0 0 0 238483 chr1 29475231 29475231 C G SRSF4 Nonsynonymous SNV K392N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 238484 chr1 29644364 29644364 C A rs149742017 PTPRU Nonsynonymous SNV D1203E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 238485 chr1 22928164 22928164 A T rs199735359 EPHA8 Nonsynonymous SNV K983M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 238486 chr10 50531050 50531050 G A rs527554528 C10orf71 Nonsynonymous SNV E154K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 238487 chr1 34663081 34663081 C T rs371920776 C1orf94 Synonymous SNV P192P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 238488 chr8 99169903 99169903 C T rs138030882 POP1 Nonsynonymous SNV R827W 0 0 0 1 0 0 0.003 0 0 0 0 0 23 238489 chr1 3649347 3649347 A G TP73 Nonsynonymous SNV M409V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 238490 chr22 37870548 37870548 A - rs748225901 MFNG 0 0.003 0 0 0 1 0 0 0 0 0 0 238491 chr10 5926001 5926001 G A rs201932053 ANKRD16 Synonymous SNV V206V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.001 238492 chr11 65547474 65547474 G C AP5B1 Nonsynonymous SNV L164V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.57 238493 chr22 38234580 38234580 C T rs117191799 ANKRD54 Synonymous SNV A69A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 238494 chr10 64927840 64927840 G T rs751636933 JMJD1C Nonsynonymous SNV H2311N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 238495 chr15 42977618 42977635 TCCAACCCCATTGTGAGC - rs762481813 STARD9 L1299_E1304del 0 0 0 1 0 0 0.003 0 0 0 0 0 238496 chr10 70645261 70645261 C T STOX1 Nonsynonymous SNV T570I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.894 238497 chr22 40803846 40803846 - GGTGGGGTCCTTGGTCTGCTC SGSM3 G464_W465insGVLGLLG 0 0.003 0 0 0 1 0 0 0 0 0 0 238498 chr8 125989981 125989981 G A rs764912008 ZNF572 Nonsynonymous SNV V491I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 238499 chr10 71876464 71876464 G A rs200979202 AIFM2 Nonsynonymous SNV T228M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 238500 chr11 6645422 6645422 C A rs376200643 DCHS1 Synonymous SNV L2495L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.307 238501 chr1 44463295 44463295 C G rs780735850 SLC6A9 Nonsynonymous SNV Q543H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 238502 chr10 73082782 73082782 G A rs772093728 SLC29A3 Nonsynonymous SNV G91R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.659 238503 chr22 43821085 43821085 G A MPPED1 Nonsynonymous SNV V32M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 238504 chr11 73067352 73067352 C T rs768622437 ARHGEF17 Nonsynonymous SNV R1266C 0 0 0 2 0 0 0.005 0 0 0 0 0 34 238505 chr11 74638466 74638466 G A rs200079394 XRRA1 Synonymous SNV Y156Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.82 238506 chr11 74717222 74717222 G A rs374973319 NEU3 Synonymous SNV P357P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.422 238507 chr8 145001034 145001034 G A rs782146862 PLEC Nonsynonymous SNV T1307M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.6 238508 chr17 58332609 58332609 A G USP32 Nonsynonymous SNV L334P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 238509 chr1 26514745 26514745 C T rs549438667 CNKSR1 Nonsynonymous SNV T499I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 238510 chr1 26517171 26517171 T C rs764210384 CATSPER4 Nonsynonymous SNV L18P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.831 238511 chr10 99400525 99400525 C T rs146171100 PI4K2A Nonsynonymous SNV S9F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 238512 chr11 100126612 100126612 G T rs201856589 CNTN5 Nonsynonymous SNV R635L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 238513 chr11 100556217 100556217 G A rs117978112 LOC100128386 0 0 0.003 0 0 0 0 1 0 0 0 0 3.493 238514 chr8 145750035 145750035 C T LRRC24 Synonymous SNV L76L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 238515 chr1 67855727 67855727 A G rs144707037 IL12RB2 Synonymous SNV L568L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.194 238516 chr9 2718197 2718197 G A rs746257061 KCNV2 Nonsynonymous SNV R153H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 238517 chr9 2718750 2718750 G A rs968707552 KCNV2 Synonymous SNV L337L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.474 238518 chr11 88242624 88242624 C G rs756131199 GRM5 Synonymous SNV R893R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.76 238519 chr9 32784218 32784218 G A rs148075631 TMEM215 Nonsynonymous SNV V13M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 238520 chr17 71334907 71334907 G T rs138505292 SDK2 Nonsynonymous SNV T2113N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.538 238521 chr2 131520144 131520144 C T AMER3 Nonsynonymous SNV R167W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.9 238522 chr11 1090361 1090361 C T rs545617497 MUC2 Synonymous SNV V1219V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.987 238523 chr12 109217065 109217065 C T SSH1 Synonymous SNV Q72Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.1 238524 chr15 94927296 94927296 T C MCTP2 Nonsynonymous SNV L131P 0 0 0 1 0 0 0.003 0 0 0 0 0 31 238525 chr11 117267892 117267892 C T rs149875085 CEP164 Nonsynonymous SNV R1125C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.2 238526 chr12 11091643 11091643 C T rs140400917 TAS2R14 Nonsynonymous SNV R55Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 238527 chr11 118890941 118890941 - C TRAPPC4 Frameshift insertion H145Pfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 238528 chr1 50884775 50884775 - GCA DMRTA2 A397_G398insA 0 0.003 0 0 0 1 0 0 0 0 0 0 238529 chr1 50884797 50884797 G T DMRTA2 Nonsynonymous SNV A390D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 238530 chr1 205779496 205779496 G A SLC41A1 Nonsynonymous SNV S25L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.53 238531 chr20 1099527 1099527 C A PSMF1 Synonymous SNV G37G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 238532 chr1 206822242 206822242 G A DYRK3 Nonsynonymous SNV A567T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 238533 chr9 87338511 87338511 G A rs117250170 NTRK2 Nonsynonymous SNV A47T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 238534 chr9 100079357 100079357 A G rs762205664 CCDC180 Nonsynonymous SNV Y313C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 238535 chr9 100258015 100258015 G A TDRD7 Synonymous SNV L975L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.071 238536 chr11 124761206 124761206 T C rs369176966 ROBO4 Nonsynonymous SNV K501R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 238537 chr9 104124958 104124958 C T rs200963286 BAAT Nonsynonymous SNV A337T 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 25.8 238538 chr9 104171882 104171882 G A rs151018933 ZNF189 Nonsynonymous SNV R597H 0 0 0 2 0 0 0.005 0 0 0 0 0 10.89 238539 chr12 123105120 123105120 A G rs767556658 KNTC1 Nonsynonymous SNV M2082V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 238540 chr17 78343574 78343574 G A rs781324421 RNF213 Nonsynonymous SNV C4111Y 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 12.16 238541 chr12 123806211 123806211 C T SBNO1 Nonsynonymous SNV D732N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 238542 chr1 220320867 220320867 - T IARS2 Frameshift insertion I978Nfs*52 0.001 0 0 0 1 0 0 0 0 0 0 0 238543 chr11 128840026 128840026 G A rs183293077 ARHGAP32 Synonymous SNV P1331P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.347 238544 chr9 113173543 113173543 G C rs375954172 SVEP1 Nonsynonymous SNV P2150A 0 0 0 1 0 0 0.003 0 0 0 0 0 23 238545 chr12 125453141 125453141 C T DHX37 Synonymous SNV L449L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 238546 chr2 179641137 179641137 T C TTN Synonymous SNV E1772E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.327 238547 chr1 225211435 225211435 T A DNAH14 Nonsynonymous SNV M409K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.441 238548 chr1 226784552 226784552 C T rs146333541 STUM Synonymous SNV L84L 0.003 0.005 0.003 1 3 2 0.003 1 0 1 0 0 13.64 238549 chr1 228346209 228346209 C G GJC2 Nonsynonymous SNV C250W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 238550 chr11 2426173 2426173 G A rs117079101 TRPM5 Synonymous SNV D1164D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 238551 chr11 2439556 2439556 C T rs2074235 TRPM5 Synonymous SNV P249P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 238552 chr1 228879387 228879387 C T rs751348972 RHOU Nonsynonymous SNV S226L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 238553 chr2 201994794 201994794 A G CFLAR Nonsynonymous SNV K69R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 238554 chr9 127119011 127119011 G A rs142665596 LOC100129034 0 0 0 1 0 0 0.003 0 0 0 0 0 3.832 238555 chr11 31824197 31824197 C T rs571151963 PAX6 Nonsynonymous SNV A66T 0 0 0.007 0 0 0 0 2 0 0 0 0 15.22 238556 chr16 427726 427726 G A rs894101381 PGAP6 Nonsynonymous SNV L82F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 238557 chr9 132637700 132637700 C T rs180684899 USP20 Synonymous SNV F720F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.71 238558 chr16 4949081 4949081 A G rs1003927032 PPL Nonsynonymous SNV I270T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 238559 chr11 45939023 45939025 TCG - rs754825517 PEX16 H44_E45delinsQ 0 0 0.003 0 0 0 0 1 0 0 0 0 238560 chr12 46355599 46355599 A G rs778363779 SCAF11 Nonsynonymous SNV Y35H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 238561 chr11 47202080 47202080 C T PACSIN3 Nonsynonymous SNV G125S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 238562 chr1 242122205 242122205 G C BECN2 Nonsynonymous SNV Q379H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.838 238563 chr16 57787043 57787043 C T rs900019824 KATNB1 Nonsynonymous SNV R304C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 238564 chr9 136230447 136230447 C T rs587757875 SURF4 Synonymous SNV S127S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.71 238565 chr16 58288060 58288060 C T rs148705207 CCDC113 Synonymous SNV H129H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.69 238566 chr9 137630360 137630360 C T rs763650548 COL5A1 Nonsynonymous SNV A477V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.4 238567 chr9 138838153 138838153 A T rs968727472 UBAC1 Nonsynonymous SNV L169Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 238568 chr9 139231458 139231458 C T rs72775742 GPSM1 Synonymous SNV N169N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.667 238569 chr1 248028107 248028107 C T rs767483764 TRIM58 Nonsynonymous SNV A206V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 238570 chr22 26747205 26747205 C T rs200098200 SEZ6L Synonymous SNV C865C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.01 238571 chr20 62198553 62198553 G C rs200878475 HELZ2 Nonsynonymous SNV L151V 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 238572 chr1 248367306 248367306 T A rs41304018 OR2M3 X313R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.188 238573 chr11 5263432 5263432 C T rs150292763 HBBP1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.704 238574 chr9 139835553 139835553 C T FBXW5 Nonsynonymous SNV E510K 0 0 0 1 0 0 0.003 0 0 0 0 0 23 238575 chr20 62369683 62369683 C T rs143622346 LIME1 Nonsynonymous SNV A139V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 238576 chr9 140674102 140674102 C T rs751915940 EHMT1 Synonymous SNV R705R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.43 238577 chr2 236877181 236877181 C G rs143511786 AGAP1 Nonsynonymous SNV P467R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 27.4 238578 chr21 34059327 34059327 T C rs145522240 SYNJ1 Synonymous SNV G303G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.47 238579 chr21 34621056 34621056 A G rs549962048 IFNAR2 Nonsynonymous SNV N146S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.743 238580 chr21 40778000 40778000 A G rs200434082 LCA5L Synonymous SNV Y607Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 238581 chr10 24722073 24722073 T G KIAA1217 Nonsynonymous SNV Y235D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 238582 chr2 27355119 27355119 A G rs764375541 PREB Nonsynonymous SNV V230A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 238583 chr21 45676026 45676026 A C DNMT3L Synonymous SNV L176L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 238584 chr11 59344358 59344358 G A rs768805720 OSBP Nonsynonymous SNV A734V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 238585 chr1 45251274 45251274 G A rs35968184 BEST4 Synonymous SNV T237T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.71 238586 chr1 45808659 45808659 C T rs150174457 TOE1 Synonymous SNV I299I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 8.201 238587 chr1 45809220 45809220 C T rs149059377 TOE1 Nonsynonymous SNV P460L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 12.06 238588 chr21 47329313 47329313 C G PCBP3 Synonymous SNV P128P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 238589 chr1 46088446 46088446 C T rs141786275 CCDC17 Synonymous SNV P239P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.83 238590 chr20 6091122 6091122 A G rs751558324 FERMT1 Nonsynonymous SNV I190T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.002 238591 chr21 47976861 47976861 G A rs772086266 DIP2A Nonsynonymous SNV A1166T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.66 238592 chr22 17468875 17468875 C T rs200236379 GAB4 Nonsynonymous SNV A221T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.2 238593 chr2 36744619 36744619 G A CRIM1 Nonsynonymous SNV V714M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 238594 chr12 85285855 85285855 A T SLC6A15 Nonsynonymous SNV D15E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 238595 chr20 61951549 61951549 G A rs201660444 COL20A1 Synonymous SNV A1025A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.984 238596 chr22 20230563 20230563 G A rs775822288 RTN4R Synonymous SNV C31C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.237 238597 chr19 17448921 17448932 CCAGCGGCCCCG - rs758576361 GTPBP3 P56_G59del 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 238598 chr1 55073630 55073630 C T rs78753605 ACOT11 Synonymous SNV I506I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 20.6 238599 chr11 62494273 62494273 A G rs931643251 HNRNPUL2 Nonsynonymous SNV M119T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 238600 chr17 1940245 1940245 C T rs192822710 DPH1 Synonymous SNV A90A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.08 238601 chr1 59787387 59787387 G A rs773705363 FGGY Nonsynonymous SNV E56K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 238602 chr10 72468469 72468469 G A rs147652549 ADAMTS14 Nonsynonymous SNV D269N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.2 238603 chr13 101020787 101020787 G A rs779935866 PCCA Nonsynonymous SNV V495I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.88 238604 chr11 65269730 65269731 GT - rs556776206 MALAT1, TALAM1 0 0 0.014 0 0 0 0 4 0 0 0 0 238605 chr11 6532559 6532559 A G rs139730836 DNHD1 Nonsynonymous SNV Y431C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 238606 chr11 65340824 65340824 T C FAM89B Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 238607 chr10 74994956 74994956 C T rs188430728 FAM149B1 Synonymous SNV P494P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.51 238608 chr10 75186438 75186438 G A rs148506399 MSS51 Synonymous SNV P143P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.97 238609 chr10 85974252 85974252 A G rs747960015 CDHR1 Nonsynonymous SNV T819A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 238610 chr13 113140310 113140310 C T rs368588007 TUBGCP3 Synonymous SNV T897T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.8 238611 chr19 13318673 13318699 CTGCTGCTGCTGCTGCTGCTGCTGCTG - CACNA1A Q2317_Q2325del 0 0 0 1 0 0 0.003 0 0 0 0 0 238612 chr22 36538085 36538085 G A rs147312987 APOL3 Synonymous SNV Y124Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.231 238613 chr11 67187006 67187006 C T rs887962861 CARNS1 Nonsynonymous SNV R178C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 238614 chr1 79093957 79093957 G A rs758143695 IFI44L Synonymous SNV T119T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.478 238615 chr19 34922792 34922792 T G UBA2 Nonsynonymous SNV F83L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 20.5 238616 chr19 35610272 35610272 C T rs768737517 FXYD3 Nonsynonymous SNV R55C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.98 238617 chr11 68475812 68475812 G A rs746230729 TESMIN Synonymous SNV H497H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.894 238618 chr22 38151139 38151139 G A rs376340052 TRIOBP Nonsynonymous SNV R127H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 238619 chr21 43852290 43852290 C T rs757982575 UBASH3A Stop gain Q379X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 40 238620 chr17 3568068 3568068 G A rs143502151 TAX1BP3 Nonsynonymous SNV R22C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 238621 chr11 7021720 7021720 G A ZNF214 Synonymous SNV S398S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 238622 chr21 45679394 45679394 G A rs534705692 DNMT3L Synonymous SNV D90D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.285 238623 chr17 3634411 3634411 C G ITGAE Nonsynonymous SNV V941L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 238624 chr22 40076984 40076984 C T rs753621012 CACNA1I Nonsynonymous SNV S1829L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 238625 chr21 45929119 45929119 G A rs782676148 TSPEAR Stop gain Q573X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 238626 chr21 45929122 45929126 CGGTC - rs781844421 TSPEAR T571Afs*121 0 0.003 0 0 0 1 0 0 0 0 0 0 238627 chr21 45929128 45929128 C G rs372331971 TSPEAR Nonsynonymous SNV V570L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 238628 chr22 40804845 40804845 G A rs137920402 SGSM3 Nonsynonymous SNV R545Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 238629 chr22 40816443 40816443 G A rs150562993 MRTFA Nonsynonymous SNV P340L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 238630 chr1 898556 898556 C T rs760787918 KLHL17 Synonymous SNV H370H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 238631 chr13 32367036 32367036 C A RXFP2 Nonsynonymous SNV P509T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 238632 chr22 41257958 41257958 G A DNAJB7 Nonsynonymous SNV A14V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 238633 chr22 42180687 42180687 G A rs759807806 MEI1 Nonsynonymous SNV G1082E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 238634 chr22 43045313 43045313 G A CYB5R3 Synonymous SNV A3A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.26 238635 chr13 37439849 37439849 G A rs142675092 SMAD9 Synonymous SNV V239V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.35 238636 chr19 37383023 37383023 T C rs376947168 ZNF829 Nonsynonymous SNV S224G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 238637 chr22 43459908 43459908 G A TTLL1 Nonsynonymous SNV R220W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 238638 chr21 47423633 47423633 G A rs148561616 COL6A1 Synonymous SNV S931S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.012 238639 chr13 39266540 39266540 G T rs148965852 FREM2 Stop gain E1687X 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 42 238640 chr13 39266541 39266541 A C rs143708269 FREM2 Nonsynonymous SNV E1687A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.14 238641 chr21 47666564 47666564 G A rs137885318 MCM3AP Synonymous SNV A1509A 0 0.005 0 0 0 2 0 0 0 0 0 0 11.43 238642 chr13 40293839 40293839 G A rs200410517 COG6 Nonsynonymous SNV V487I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.61 238643 chr1 94998715 94998715 G C rs200192517 F3 Nonsynonymous SNV S174R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 238644 chr11 8008918 8008918 C T rs200048982 EIF3F Nonsynonymous SNV P7S 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 0.053 238645 chr13 52523907 52523907 C T rs574579593 ATP7B Nonsynonymous SNV R835Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.8 238646 chr17 39550322 39550322 G A rs780139483 KRT31 Synonymous SNV C399C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.175 238647 chr11 87025573 87025573 C T rs143158578 TMEM135 Nonsynonymous SNV A332V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 238648 chr10 116698133 116698147 GCCGCGGTGGTTGCG - rs757047914 TRUB1 V43_A47del 0 0 0 1 0 0 0.003 0 0 0 0 0 238649 chr10 118646011 118646011 T G SHTN1 Synonymous SNV V520V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.05 238650 chr2 100210258 100210258 G A rs774534077 AFF3 Nonsynonymous SNV P647L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 238651 chr14 100404236 100404236 A G rs745359199 EML1 Synonymous SNV G726G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.97 238652 chr3 123634548 123634548 A G CCDC14 Nonsynonymous SNV M447T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 23.6 238653 chr12 100707222 100707222 C A SCYL2 Stop gain S292X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 238654 chr12 10104092 10104092 C G rs773925192 CLEC12A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.82 238655 chr3 125874261 125874261 T A ALDH1L1 Nonsynonymous SNV K215M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 238656 chr19 36207621 36207621 C T ZBTB32 Synonymous SNV T145T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.21 238657 chr10 135013907 135013907 G A rs746019009 KNDC1 Nonsynonymous SNV E978K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 238658 chr22 32620322 32620322 G A rs145450509 SLC5A4 Nonsynonymous SNV L533F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 238659 chr12 109577276 109577276 C T ACACB Synonymous SNV I22I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 238660 chr22 37465360 37465360 G T TMPRSS6 Synonymous SNV T622T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.866 238661 chr20 3687309 3687309 C T SIGLEC1 Nonsynonymous SNV V32M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 238662 chr22 37603351 37603351 G A rs34713826 SSTR3 Synonymous SNV S164S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.373 238663 chr20 37198582 37198582 C T rs142678293 RALGAPB Nonsynonymous SNV P1336S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 238664 chr11 726676 726676 G A rs142626405 EPS8L2 Synonymous SNV E664E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 238665 chr11 792168 792168 G A rs772170781 SLC25A22 Synonymous SNV T264T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.742 238666 chr14 21490307 21490307 C T rs374914691 NDRG2 Synonymous SNV E82E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 238667 chr20 43739370 43739370 C T rs114264609 WFDC5 Synonymous SNV S44S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 15.4 238668 chr2 143643006 143643006 C T rs141597680 KYNU Nonsynonymous SNV P24S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.2 238669 chr12 120580323 120580323 T C rs7300790 GCN1 Synonymous SNV A1939A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 7.646 238670 chr20 47736537 47736537 T G STAU1 Synonymous SNV A290A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.442 238671 chr14 23869560 23869560 C T rs761085263 MYH6 Nonsynonymous SNV V496M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 33 238672 chr12 122359452 122359452 G A rs1007720103 WDR66 Nonsynonymous SNV A81T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 238673 chr14 23946550 23946551 TG - NGDN V286Sfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 238674 chr14 24035543 24035543 G C rs764461327 AP1G2 Nonsynonymous SNV L10V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 238675 chr14 24521398 24521398 G A rs376165345 CARMIL3 Synonymous SNV L12L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 238676 chr20 48479559 48479559 T C rs199521924 SLC9A8 Synonymous SNV F285F 0.002 0 0 0 2 0 0 0 0 0 0 0 5.765 238677 chr3 157160340 157160340 C G rs1002005370 PTX3 Nonsynonymous SNV L240V 0 0.005 0 0 0 2 0 0 0 0 0 0 25.3 238678 chr14 24731416 24731416 C T rs756287272 TGM1 Nonsynonymous SNV C48Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 238679 chr20 5090075 5090075 A G rs141394228 TMEM230 Star tloss M2del 0.002 0 0 0 2 0 0 0 0 0 0 0 17.63 238680 chr22 46319013 46319013 C T rs748420070 WNT7B Nonsynonymous SNV R258H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 238681 chr22 46653593 46653593 T C PKDREJ Nonsynonymous SNV Y1876C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 238682 chr12 124236890 124236890 G A rs777130500 ATP6V0A2 Nonsynonymous SNV D706N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 238683 chr12 124366332 124366332 G A DNAH10 Nonsynonymous SNV R2814K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.423 238684 chr3 167507060 167507060 C A rs776746623 SERPINI1 Nonsynonymous SNV F48L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 238685 chr12 126942760 126942760 T A rs538801266 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 6.016 238686 chr2 10045021 10045021 A G rs773917356 TAF1B Nonsynonymous SNV T26A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.295 238687 chr3 183858505 183858505 C T rs748745866 EIF2B5 Synonymous SNV P381P 0 0.005 0 0 0 2 0 0 0 0 0 0 14.91 238688 chr20 61943853 61943853 C T rs746763283 COL20A1 Nonsynonymous SNV L629F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.146 238689 chr14 55836496 55836496 A G rs368966934 ATG14 Synonymous SNV S440S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.26 238690 chr19 51410258 51410258 C T rs140350753 KLK4 Nonsynonymous SNV V138M 0.004 0.005 0 1 5 2 0.003 0 0 0 0 0 6.475 238691 chr11 2435976 2435976 C A rs746094271 TRPM5 Synonymous SNV T571T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 15.13 238692 chr20 62187307 62187307 C T rs148446846 FNDC11 Synonymous SNV S97S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.41 238693 chr12 22063874 22063874 G A rs143373045 ABCC9 Synonymous SNV N350N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.318 238694 chr12 22078910 22078910 A G rs377384557 ABCC9 Synonymous SNV N124N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.267 238695 chr20 62370231 62370231 - CCTCCCTG rs561268653 LIME1 *296delinsPCPEHSRTCAPSSRVRPVPRPAPPHS* 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 238696 chr12 32137436 32137438 GAA - RESF1 E1183del 0 0 0.003 0 0 0 0 1 0 0 0 0 238697 chr12 42787459 42787459 G C rs753464595 PPHLN1 Nonsynonymous SNV E126Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 238698 chr2 189899679 189899679 A G rs754240060 COL5A2 Nonsynonymous SNV I1439T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 238699 chr2 196753059 196753059 T C rs370741288 DNAH7 Nonsynonymous SNV I1777V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 238700 chr2 24949471 24949471 G A NCOA1 Synonymous SNV L871L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 238701 chr14 75515101 75515101 C T rs28756982 MLH3 Nonsynonymous SNV V420I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 0.02 238702 chr14 75558163 75558163 G A rs112467144 NEK9 Nonsynonymous SNV P763L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.9 238703 chr2 25384048 25384048 G C rs28932472 POMC Nonsynonymous SNV R236G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 238704 chr14 75746751 75746751 G C rs757058965 FOS Nonsynonymous SNV A105P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 238705 chr21 35899035 35899035 T A RCAN1 Nonsynonymous SNV N5Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 238706 chr17 76565576 76565576 - CA rs749758037 DNAH17 Stop gain K360* 0 0 0 1 0 0 0.003 0 0 0 0 0 238707 chr14 78227294 78227294 G A rs571338774 C14orf178 0 0 0 1 0 0 0.003 0 0 0 0 0 11.49 238708 chr14 80328067 80328067 G T rs766551508 NRXN3 Synonymous SNV S558S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.089 238709 chr12 52400758 52400758 C T rs1022379581 GRASP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 238710 chr14 88477492 88477492 A G rs780853135 GPR65 Nonsynonymous SNV S101G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 238711 chr19 53410706 53410706 C T rs186635114 ZNF888 Nonsynonymous SNV R290K 0 0 0 2 0 0 0.005 0 0 0 0 0 4.097 238712 chr21 43716453 43716453 G A rs919514504 ABCG1 Nonsynonymous SNV R663H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 238713 chr14 91787644 91787644 G A rs958331518 CCDC88C Synonymous SNV S449S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.59 238714 chr11 6566216 6566216 C A rs982052172 DNHD1 Synonymous SNV L1349L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.82 238715 chr17 8216353 8216353 C A ARHGEF15 Nonsynonymous SNV R239S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.532 238716 chr12 57929594 57929594 A G rs1048332098 DCTN2 Nonsynonymous SNV I49T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 238717 chr2 225630550 225630550 G A rs143379060 DOCK10 Nonsynonymous SNV T2144M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.643 238718 chr11 19177390 19177390 A T ZDHHC13 Synonymous SNV G177G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.632 238719 chr18 21484535 21484535 C A rs149747693 LAMA3 Nonsynonymous SNV S499R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 238720 chr2 228197306 228197306 - TGGCAGACTAAAAAGAGAGCGGTCTATGAGTGAA MFF 0.002 0 0 0 2 0 0 0 0 0 0 0 238721 chr15 40917260 40917260 G C rs370659986 KNL1 Nonsynonymous SNV V1600L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.337 238722 chr12 7362387 7362387 C T PEX5 Nonsynonymous SNV R549W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 238723 chr12 7528089 7528089 T C CD163L1 Nonsynonymous SNV D940G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.846 238724 chr15 41820508 41820508 C G rs373402866 RPAP1 Synonymous SNV L395L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.6 238725 chr18 31323545 31323545 A G rs201740316 ASXL3 Nonsynonymous SNV I1245V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.105 238726 chr2 88405880 88405880 G A rs771710072 SMYD1 Nonsynonymous SNV E327K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 238727 chr18 34205560 34205560 C T rs137982690 FHOD3 Synonymous SNV S348S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.04 238728 chr2 97427448 97427448 A G rs762874791 CNNM4 Nonsynonymous SNV K238E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 238729 chr12 9312589 9312589 C A rs775967434 PZP Nonsynonymous SNV D1028Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 238730 chr3 101060607 101060607 G A rs370228070 SENP7 Nonsynonymous SNV A544V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.733 238731 chr11 47074028 47074028 G A rs565223985 C11orf49 Nonsynonymous SNV R71Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 238732 chr18 45566840 45566840 A T ZBTB7C Synonymous SNV A213A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.075 238733 chr15 52676367 52676367 C T MYO5A Synonymous SNV V635V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.89 238734 chr20 2380347 2380347 C T rs777192798 TGM6 Synonymous SNV Y271Y 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.67 238735 chr22 36054693 36054693 G A rs764855542 APOL6 Nonsynonymous SNV V28M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.511 238736 chr18 51818324 51818324 A G rs776034909 POLI Synonymous SNV A319A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.118 238737 chr4 100470359 100470359 C T TRMT10A Synonymous SNV S302S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.05 238738 chr3 113342475 113342475 C T rs922045651 SIDT1 Synonymous SNV R677R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 238739 chr13 110845188 110845188 G A rs142177702 COL4A1 Nonsynonymous SNV P485L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 238740 chr13 114782808 114782808 G T rs781295846 RASA3 Synonymous SNV R339R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 238741 chr2 27304984 27304984 A G EMILIN1 Nonsynonymous SNV E182G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 238742 chr15 67496392 67496395 CTTT - AAGAB Stop gain E162* 0 0 0 1 0 0 0.003 0 0 0 0 0 238743 chr15 68595447 68595447 T G ITGA11 Synonymous SNV R1173R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.35 238744 chr13 21965960 21965960 C T rs561900037 ZDHHC20 Nonsynonymous SNV V147I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 238745 chr15 70352943 70352943 G C TLE3 Nonsynonymous SNV H158D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 238746 chr13 24871668 24871668 G C SPATA13 Synonymous SNV R361R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.49 238747 chr15 72069692 72069692 G A rs769558478 THSD4 Synonymous SNV T652T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 238748 chr15 73564831 73564831 A T rs983909806 NEO1 Nonsynonymous SNV S965C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.6 238749 chr22 46653254 46653254 T C rs1012618890 PKDREJ Nonsynonymous SNV E1989G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 238750 chr13 28542940 28542940 C T CDX2 Synonymous SNV A68A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 238751 chr13 32835887 32835887 G T rs144509680 FRY Nonsynonymous SNV E2517D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 238752 chr3 12531323 12531323 C G rs749188000 TSEN2 Synonymous SNV A8A 0 0.003 0 4 0 1 0.01 0 0 0 0 0 15.25 238753 chr13 33110685 33110685 T C rs142460591 N4BP2L2 Synonymous SNV K160K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.206 238754 chr3 126723793 126723793 A G PLXNA1 Nonsynonymous SNV Q562R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.91 238755 chr3 126723794 126723794 G A PLXNA1 Synonymous SNV Q562Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.157 238756 chr13 39425967 39425967 C T rs574967663 FREM2 Nonsynonymous SNV S2296L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 238757 chr15 79755466 79755466 G A MINAR1 Nonsynonymous SNV G786S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.66 238758 chr15 81605656 81605656 G A rs138188091 STARD5 Nonsynonymous SNV R195C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 238759 chr2 234231 234231 T C rs35622134 SH3YL1 Synonymous SNV V111V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.228 238760 chr3 130454764 130454764 A C PIK3R4 Nonsynonymous SNV F272L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 238761 chr4 156135902 156135902 G T rs369993579 NPY2R Nonsynonymous SNV V271L 0 0.005 0 0 0 2 0 0 0 0 0 0 18.63 238762 chr2 101869816 101869816 G C rs779450607 CNOT11 Synonymous SNV L130L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.497 238763 chr13 61083925 61083925 C T rs758407063 TDRD3 Nonsynonymous SNV T296M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 238764 chr4 164087801 164087801 G T rs765655091 NAF1 Nonsynonymous SNV P27T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.015 238765 chr19 12154920 12154920 A G rs368785232 ZNF878 Synonymous SNV F432F 0 0 0 1 0 0 0.003 0 0 0 0 0 1.122 238766 chr15 89403605 89403605 A C rs370618858 ACAN Nonsynonymous SNV K2294T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.24 238767 chr4 170477098 170477098 C T rs371400202 NEK1 Nonsynonymous SNV R447Q 0 0.005 0 0 0 2 0 0 0 0 0 0 12.42 238768 chr14 100406407 100406407 G A rs756064646 EML1 Synonymous SNV T802T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.28 238769 chr2 68521129 68521129 C A CNRIP1 Synonymous SNV V91V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 238770 chr3 141161284 141161284 G A ZBTB38 Synonymous SNV T18T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 238771 chr14 101412041 101412041 A G rs779664575 SNORD113-9 0 0 0.003 0 0 0 0 1 0 0 0 0 0.391 238772 chr4 17711140 17711140 C A FAM184B Nonsynonymous SNV G90V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 238773 chr19 1387827 1387827 T G NDUFS7 Nonsynonymous SNV F12V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.274 238774 chr15 93015488 93015488 G A C15orf32 0 0 0 1 0 0 0.003 0 0 0 0 0 1.364 238775 chr2 121712924 121712924 C T rs141574408 GLI2 Synonymous SNV P62P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.18 238776 chr4 185033921 185033921 G A rs200617400 ENPP6 Synonymous SNV Y299Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.095 238777 chr15 98504397 98504397 C T ARRDC4 Synonymous SNV A102A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.58 238778 chr19 14938537 14938537 C T rs56284724 OR7A5 Nonsynonymous SNV E173K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.11 238779 chr14 105995632 105995632 - GCTGGACCT TMEM121 D162_M163insLLD 0 0 0.003 0 0 0 0 1 0 0 0 0 238780 chr2 27276903 27276903 C T rs142859717 AGBL5 Nonsynonymous SNV P176L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.57 238781 chr4 25806279 25806279 T C rs16877591 SEL1L3 Nonsynonymous SNV I519V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.777 238782 chr16 1493525 1493525 G A rs762893526 CCDC154 Synonymous SNV P132P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.859 238783 chr4 25848983 25848983 A G rs16877658 SEL1L3 Synonymous SNV L187L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 3.702 238784 chr16 1706309 1706309 G T rs770493494 CRAMP1 Nonsynonymous SNV Q517H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 238785 chr16 1709935 1709935 G A rs200608756 CRAMP1 Nonsynonymous SNV E762K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 238786 chr2 157184995 157184995 G A rs201103933 NR4A2 Synonymous SNV C305C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.41 238787 chr2 158272560 158272560 G A rs538136043 CYTIP Nonsynonymous SNV R237W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 238788 chr16 18858867 18858867 T C rs762868925 SMG1 Synonymous SNV G1968G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.945 238789 chr4 38830062 38830062 G A rs5743813 TLR6 Nonsynonymous SNV H345Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 238790 chr14 23770838 23770843 GGCGGG - PPP1R3E P215_P216del 0 0 0.003 0 0 0 0 1 0 0 0 0 238791 chr3 111697987 111697987 C T rs147373641 ABHD10 Nonsynonymous SNV P27S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.331 238792 chr14 24540220 24540220 C T rs993849560 CPNE6 Nonsynonymous SNV T10I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.012 238793 chr14 24546847 24546847 C A rs150792296 CPNE6 Synonymous SNV R528R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 238794 chr11 66082933 66082933 C T rs764637156 CD248 Synonymous SNV P522P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.4 238795 chr2 44508562 44508562 C T rs369641941 SLC3A1 Nonsynonymous SNV T216M 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 33 238796 chr4 47939403 47939403 C T rs758625358 CNGA1 Nonsynonymous SNV V439M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.6 238797 chr11 67046987 67046987 G A rs112675049 GRK2 Synonymous SNV S121S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.49 238798 chr4 5448418 5448418 T A STK32B Nonsynonymous SNV V164E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 238799 chr21 32525032 32525032 T C rs200088088 TIAM1 Synonymous SNV V129V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.65 238800 chr1 156893796 156893796 G A LRRC71 Synonymous SNV R72R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.321 238801 chr21 36078336 36078336 T G rs945472343 CLIC6 Synonymous SNV T462T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 3.308 238802 chr16 28965904 28965904 C A NFATC2IP Stop gain S160X 0 0 0 1 0 0 0.003 0 0 0 0 0 33 238803 chr3 121500704 121500704 C A rs761109901 IQCB1 Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 238804 chr19 23328829 23328829 C A ZNF730 Nonsynonymous SNV T328K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 238805 chr16 29818204 29818204 G A MAZ Nonsynonymous SNV S61N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 238806 chr11 74554923 74554923 G A rs776334769 XRRA1 Nonsynonymous SNV R426W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 238807 chr2 179977567 179977567 C A rs369892806 SESTD1 Nonsynonymous SNV L615F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 238808 chr21 42839671 42839671 C T rs572530227 TMPRSS2 Nonsynonymous SNV R523Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.335 238809 chr11 76883864 76883864 G A rs111033416 MYO7A Nonsynonymous SNV R623H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 34 238810 chr14 58831774 58831774 T A ARID4A Synonymous SNV V989V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.999 238811 chr16 31371659 31371659 G A ITGAX Nonsynonymous SNV A246T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 238812 chr14 59931780 59931780 C T rs543882151 GPR135 Synonymous SNV L55L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 238813 chr21 45539395 45539395 C T rs757349457 LOC102724159, PWP2 Synonymous SNV D393D 0 0 0 2 0 0 0.005 0 0 0 0 0 9.652 238814 chr16 3613544 3613544 G A NLRC3 Nonsynonymous SNV A465V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 238815 chr16 3900385 3900385 G A rs146049063 CREBBP Synonymous SNV S237S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.955 238816 chr14 65194559 65194559 C T rs551678656 PLEKHG3 Synonymous SNV N70N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.322 238817 chr16 4625982 4625982 G T rs867339747 C16orf96 Nonsynonymous SNV D501Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 238818 chr14 75052663 75052663 G C LTBP2 Nonsynonymous SNV R242G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.818 238819 chr14 75277002 75277002 A G rs765687237 YLPM1 Nonsynonymous SNV I1703V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 238820 chr2 209345847 209345847 G T rs151296979 PTH2R Nonsynonymous SNV W234L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 238821 chr3 145797013 145797013 C T rs755519565 PLOD2 Nonsynonymous SNV V464M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 238822 chr14 90397956 90397956 C G rs146572823 EFCAB11 Nonsynonymous SNV L113F 0 0 0.003 0 0 0 0 1 0 0 0 0 22 238823 chr3 150460051 150460051 A G rs930533027 SIAH2 Synonymous SNV H284H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 238824 chr22 24988858 24988858 - CGCGCTCCGGCCGCCGCT LRRC75B R49_A50insERRPER 0 0 0 1 0 0 0.003 0 0 0 0 0 238825 chr11 118133799 118133799 T - rs752672077 MPZL2 I24Mfs*22 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 238826 chr5 110456731 110456731 T G WDR36 Nonsynonymous SNV D736E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.29 238827 chr16 66600674 66600674 C T rs747785103 CMTM1 Synonymous SNV P86P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 238828 chr3 164732990 164732990 G A rs779254184 SI Nonsynonymous SNV T1307I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 238829 chr3 51315157 51315157 G A DOCK3 Nonsynonymous SNV R932Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 238830 chr19 4217464 4217464 C T ANKRD24 Synonymous SNV R769R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.737 238831 chr16 71606275 71606275 G T rs200046708 TAT-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.089 238832 chr11 123625142 123625142 T C rs200389452 OR6X1 Nonsynonymous SNV I29V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.875 238833 chr16 71957188 71957191 CAGT - IST1 S106Qfs*32 0 0 0 1 0 0 0.003 0 0 0 0 0 238834 chr3 171321009 171321009 T C rs75970900 PLD1 Synonymous SNV E990E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.352 238835 chr19 4329980 4329980 G A rs199745580 STAP2 Nonsynonymous SNV R145C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 238836 chr16 774105 774105 C T rs774507863 CCDC78 0 0 0 1 0 0 0.003 0 0 0 0 0 10.23 238837 chr3 74419072 74419072 C T rs776282929 CNTN3 Synonymous SNV S243S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.04 238838 chr11 124621411 124621411 G A rs148492253 VSIG2 Synonymous SNV L43L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.43 238839 chr11 125769988 125769988 G A rs374261603 HYLS1 Nonsynonymous SNV R242Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 33 238840 chr5 140166348 140166348 C A rs116278913 PCDHA1 Nonsynonymous SNV A158D 0 0.005 0 0 0 2 0 0 0 0 0 0 14.53 238841 chr11 128840992 128840992 C T rs773365931 ARHGAP32 Synonymous SNV A1009A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.77 238842 chr3 9970062 9970062 C T rs151110374 IL17RC Synonymous SNV D277D 0.004 0.008 0 4 5 3 0.01 0 0 0 0 0 Benign 10.5 238843 chr3 9975139 9975139 G A rs189013166 IL17RC Synonymous SNV G622G 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Benign 5.059 238844 chr3 9985673 9985673 T C rs73118372 CRELD1 Nonsynonymous SNV M383T 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 Benign 0.001 238845 chr3 9988868 9988868 C G rs200215469 PRRT3 Synonymous SNV P663P 0.004 0.005 0 4 5 2 0.01 0 0 0 0 0 10.75 238846 chr15 42107868 42107868 - G MAPKBP1 Frameshift insertion D456Gfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 238847 chr3 194362924 194362924 G A rs771409056 LSG1 Nonsynonymous SNV P617L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 238848 chr15 45392428 45392428 T C rs371960046 DUOX2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 238849 chr19 47569881 47569881 T A rs753155059 ZC3H4 Nonsynonymous SNV Y1215F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.07 238850 chr5 141033783 141033783 C A ARAP3 Nonsynonymous SNV G1457C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 238851 chr16 88802618 88802618 C T rs530486445 PIEZO1 Nonsynonymous SNV V499I 0 0 0 3 0 0 0.008 0 0 0 0 0 17.26 238852 chr16 8890426 8890426 G A rs561925238 TMEM186 Nonsynonymous SNV R9C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 238853 chr3 30819722 30819722 C T rs149175162 GADL1 Synonymous SNV P447P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 238854 chr16 89261311 89261311 C T rs780699760 CDH15 Synonymous SNV Y731Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.73 238855 chr3 32933167 32933167 A G rs780093797 TRIM71 Nonsynonymous SNV N824S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 238856 chr3 33135151 33135151 G A rs61734781 TMPPE Synonymous SNV A179A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.312 238857 chr19 4891443 4891443 G A rs199680732 ARRDC5 Nonsynonymous SNV T201I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 238858 chr15 55972333 55972333 G C PRTG Nonsynonymous SNV H298D 0 0 0.007 0 0 0 0 2 0 0 0 0 27.1 238859 chr3 33166010 33166010 C T rs149119710 CRTAP Synonymous SNV L244L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.49 238860 chr3 33171525 33171525 C T rs13637 CRTAP Synonymous SNV T296T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.28 238861 chr15 56388731 56388731 T A rs370670660 RFX7 Nonsynonymous SNV T302S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.4 238862 chr12 7356036 7356036 C T rs766412744 PEX5 Synonymous SNV V248V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.41 238863 chr3 151155951 151155951 T G rs747583871 IGSF10 Nonsynonymous SNV H160P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 238864 chr2 27462250 27462250 G A rs756249018 CAD Nonsynonymous SNV A1706T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 238865 chr15 63111803 63111803 C T rs761771648 TLN2 Nonsynonymous SNV A2287V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 238866 chrX 7894036 7894036 G A rs556432031 PNPLA4 Nonsynonymous SNV A42V 0.002 0 0 3 2 0 0.008 0 1 0 0 1 25.5 238867 chr17 14205168 14205168 G A rs62636622 HS3ST3B1 Synonymous SNV P111P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.63 238868 chr4 15005162 15005162 G T CPEB2 Nonsynonymous SNV G289C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.08 238869 chr17 1631595 1631595 C T rs373042741 WDR81 Synonymous SNV T1114T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 238870 chr17 1631760 1631760 G T WDR81 Nonsynonymous SNV E1169D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.63 238871 chr17 16340136 16340136 C T TRPV2 Nonsynonymous SNV P743L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.69 238872 chr19 50902240 50902240 G A rs757575448 POLD1 Nonsynonymous SNV M44I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.72 238873 chr17 1637421 1637421 G T WDR81 Nonsynonymous SNV R494L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 238874 chr3 42674173 42674173 T G NKTR Nonsynonymous SNV S211A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 238875 chrX 47004861 47004861 T C rs5952419 RBM10 Nonsynonymous SNV S6P 0 0.003 0 2 0 1 0.005 0 0 0 0 1 17.52 238876 chrX 47070261 47070261 G A rs2230147 UBA1 Synonymous SNV P740P 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 Benign 0.915 238877 chrX 47082520 47082520 A G rs5953015 CDK16 Nonsynonymous SNV D9G 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 0.002 238878 chrX 47084037 47084037 A G rs5952422 CDK16 Synonymous SNV S193S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 1 0.012 238879 chrX 47842759 47842759 T C rs61249955 ZNF182 Nonsynonymous SNV Q23R 0.001 0 0 3 1 0 0.008 0 0 0 0 1 7.158 238880 chr5 158697564 158697564 A C rs149294973 UBLCP1 Synonymous SNV R121R 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 0.07 238881 chr3 43640160 43640160 T G ANO10 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 238882 chrX 47918621 47918621 C T rs73493249 ZNF630 Nonsynonymous SNV E404K 0.001 0 0 3 1 0 0.008 0 0 0 0 1 9.041 238883 chr17 17697101 17697105 AGCAG ACAG RAI1 Q280Hfs*84 0 0 0 1 0 0 0.003 0 0 0 0 0 238884 chr15 74738566 74738566 G A UBL7 Synonymous SNV S336S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.89 238885 chr3 45030679 45030679 C T rs537011383 EXOSC7 Synonymous SNV V35V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 238886 chrX 54982660 54982660 C A rs146170729 PFKFB1 Nonsynonymous SNV K123N 0 0 0 3 0 0 0.008 0 0 0 0 1 19.43 238887 chr17 18152508 18152508 G A rs201233040 FLII Nonsynonymous SNV R568C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24 238888 chr5 167689250 167689250 G A rs3208478 TENM2 Nonsynonymous SNV S2348N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.417 238889 chr17 18872658 18872658 G A SLC5A10 Nonsynonymous SNV G188D 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 238890 chr15 76161328 76161330 GAA - rs778655956 UBE2Q2 E111del 0 0 0.003 0 0 0 0 1 0 0 0 0 238891 chr4 159894312 159894312 C T rs371994683 C4orf45 Synonymous SNV E72E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.14 238892 chr5 167913514 167913514 T A RARS1 Nonsynonymous SNV L4Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.95 238893 chrX 103294635 103294635 C T rs373863467 H2BW2 Nonsynonymous SNV T31M 0.001 0 0 3 1 0 0.008 0 0 0 0 1 1.289 238894 chrX 106846471 106846471 A G rs751122993 FRMPD3 Synonymous SNV Q1767Q 0.001 0 0 3 1 0 0.008 0 0 0 0 1 0.002 238895 chrX 106846474 106846474 A G rs756947055 FRMPD3 Synonymous SNV Q1768Q 0.001 0 0 3 1 0 0.008 0 0 0 0 1 0.006 238896 chrX 107782983 107782983 A G rs150305490 COL4A5 Nonsynonymous SNV Y30C 0.001 0 0 3 1 0 0.008 0 0 0 0 1 Conflicting interpretations of pathogenicity 21.2 238897 chr3 49049385 49049385 C G rs375164885 WDR6 Nonsynonymous SNV L114V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 238898 chr2 61310293 61310293 A G rs775107015 KIAA1841 Nonsynonymous SNV E99G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 238899 chr3 49690963 49690963 C G rs574877656 BSN Nonsynonymous SNV T1325S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.665 238900 chr3 49897213 49897213 G A rs371059995 CAMKV Synonymous SNV P348P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.506 238901 chr2 63086357 63086357 G A rs143488686 EHBP1 Nonsynonymous SNV V230M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.86 238902 chr12 40076674 40076674 G T rs1003966007 C12orf40 Nonsynonymous SNV K316N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.207 238903 chr3 50683574 50683574 T C MAPKAPK3 Synonymous SNV L236L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.968 238904 chr3 52183948 52183948 G A rs377711159 POC1A Synonymous SNV R53R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.76 238905 chr2 6980746 6980746 C A rs762796568 CMPK2 Synonymous SNV G352G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 238906 chr3 52727742 52727742 G A GNL3 Synonymous SNV L473L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 238907 chr3 52834639 52834639 C T ITIH3 Synonymous SNV T387T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 238908 chr15 93007426 93007426 C T rs146070898 ST8SIA2 Synonymous SNV Y292Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.377 238909 chr17 34073416 34073416 G T rs782487976 GAS2L2 Nonsynonymous SNV S367Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.153 238910 chr10 101128420 101128420 C T rs752636588 CNNM1 Nonsynonymous SNV S741F 0.004 0 0 1 5 0 0.003 0 1 0 0 0 22.2 238911 chr4 3076613 3076624 CAGCAGCAGCAG - HTT Q35_Q38del 0 0.005 0 0 0 2 0 0 0 0 0 0 238912 chr1 247835523 247835523 A G rs757137122 OR13G1 Nonsynonymous SNV L274P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 238913 chr16 1143695 1143695 C A rs756390863 C1QTNF8 Nonsynonymous SNV A189S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.814 238914 chr16 12060199 12060199 G T rs561569626 TNFRSF17 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 238915 chr16 135416 135416 C T rs773939189 MPG Synonymous SNV V174V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 238916 chr16 1420257 1420257 C T rs374643122 UNKL Nonsynonymous SNV G487S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.258 238917 chr16 1536557 1536557 C T rs367574902 PTX4 Nonsynonymous SNV V269I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.416 238918 chr12 52913699 52913699 C T rs267607657 KRT5 Nonsynonymous SNV G128S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 238919 chr19 56538370 56538370 T C rs112918376 NLRP5 Synonymous SNV A257A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.065 238920 chr16 15788084 15788084 A G rs144060849 NDE1 Nonsynonymous SNV I256V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 238921 chr16 15813130 15813130 C T rs147582612 MYH11 Synonymous SNV A1706A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 238922 chr17 39137273 39137273 C T rs747456416 KRT40 Nonsynonymous SNV R273H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 238923 chr19 5727283 5727283 G A rs182825334 CATSPERD Nonsynonymous SNV R44H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 238924 chr12 53445640 53445640 C T rs769496652 TNS2 Nonsynonymous SNV P36L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 238925 chr16 20818317 20818317 G T rs755146835 REXO5 Nonsynonymous SNV K14N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 238926 chr16 2139762 2139762 C T rs781282665 PKD1 Nonsynonymous SNV R4292Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 238927 chr17 39553492 39553492 G A rs755982013 KRT31 Synonymous SNV C100C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.034 238928 chr10 123847110 123847110 G T rs138754206 TACC2 Nonsynonymous SNV A1699S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 238929 chr17 39637280 39637280 C T rs761563340 KRT35 Nonsynonymous SNV G24S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 238930 chr12 56629356 56629356 C T rs149930882 SLC39A5 Nonsynonymous SNV R273W 0 0 0 1 0 0 0.003 0 0 0 0 0 9.391 238931 chr17 3967762 3967762 - GAGAGCAGCCGGAGTCGCCCTCGGGT ZZEF1 Frameshift insertion F1538Pfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 238932 chr16 27454345 27454345 C T rs146177564 IL21R Nonsynonymous SNV R139C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.37 238933 chr4 6610945 6610945 C T MAN2B2 Synonymous SNV A591A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.46 238934 chr10 128153382 128153382 G A rs777794117 C10orf90 Nonsynonymous SNV H473Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 238935 chr19 651650 651650 C T rs559561153 RNF126 Nonsynonymous SNV R135Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 238936 chr12 59268094 59268094 C G LRIG3 Nonsynonymous SNV R893T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 238937 chr12 64697466 64697466 T A rs772854525 C12orf56 Nonsynonymous SNV E194D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 238938 chr4 126239565 126239565 C T FAT4 Nonsynonymous SNV P667S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 238939 chr16 314068 314068 G A rs373250620 FAM234A Synonymous SNV P414P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.56 238940 chr12 70049488 70049488 G A rs115474368 BEST3 Synonymous SNV H189H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.896 238941 chr12 70948986 70948986 G C rs17108335 PTPRB Synonymous SNV T1391T 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 10.32 238942 chr12 71029674 71029674 G A rs368000189 PTPRB Synonymous SNV R76R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.396 238943 chr12 72288109 72288109 G A rs140141653 TBC1D15 Nonsynonymous SNV G221E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.31 238944 chr12 75741436 75741436 C G rs115736666 GLIPR1L1 Nonsynonymous SNV A152G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 238945 chr16 336690 336690 C T rs367916352 PDIA2 Synonymous SNV H459H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.313 238946 chr4 13606476 13606476 G A BOD1L1 Nonsynonymous SNV S683L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 238947 chr17 44061083 44061083 G A rs755437552 MAPT Nonsynonymous SNV V305M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 238948 chr16 3707899 3707912 GCCTGCAGGCCCAA - DNASE1 Q269_A270del 0 0 0.003 0 0 0 0 1 0 0 0 0 238949 chr4 148786098 148786098 T C ARHGAP10 Synonymous SNV F196F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.653 238950 chr4 15539703 15539703 C T rs201884883 CC2D2A Nonsynonymous SNV T649M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.781 238951 chr17 4721317 4721317 C T rs758370941 PLD2 Synonymous SNV R612R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.96 238952 chr12 100660842 100660842 C A rs138334644 DEPDC4 Stop gain E5X 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 238953 chr16 56700822 56700822 C T rs758840134 MT1G Nonsynonymous SNV G53E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 238954 chr16 56852644 56852644 G A rs35687281 NUP93 Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 238955 chr3 9868894 9868894 C T rs142298876 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV T506M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 33 238956 chr12 109186492 109186492 G A rs773831319 SSH1 Nonsynonymous SNV P499L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 238957 chr12 109505330 109505330 C A rs145382338 USP30 Synonymous SNV A126A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 17.87 238958 chr16 66976028 66976028 T C rs755453667 CES2 Synonymous SNV G386G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 238959 chr12 111758290 111758290 G A rs903333940 CUX2 Nonsynonymous SNV R764H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 238960 chr16 720533 720533 C G rs144553369 RHOT2 Synonymous SNV P154P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.812 238961 chr16 72173218 72173218 G A PMFBP1 Synonymous SNV S296S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.491 238962 chr3 154884692 154884692 C T rs200693058 MME Synonymous SNV V554V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 238963 chr5 1246013 1246013 C T rs956393739 SLC6A18 Synonymous SNV A569A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 238964 chr5 132158553 132158553 T G rs770289301 SHROOM1 Nonsynonymous SNV S827R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.48 238965 chr12 124265719 124265719 A G rs373979430 DNAH10 Synonymous SNV E238E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.064 238966 chr10 55582900 55582900 T C rs151309770 PCDH15 Nonsynonymous SNV Y1489C 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23 238967 chr17 66447018 66447018 T C WIPI1 Nonsynonymous SNV I62V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 238968 chr10 56424006 56424006 T C PCDH15 Nonsynonymous SNV Y6C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.834 238969 chr12 124798944 124798944 C T rs146197980 RFLNA, ZNF664-RFLNA Nonsynonymous SNV A175V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 238970 chr12 124887059 124887070 GCTGCTGCTGCT - NCOR2 Q506_Q509del 0 0 0 1 0 0 0.003 0 0 0 0 0 238971 chr12 124887070 124887070 - GCT NCOR2 Q509_P510insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 238972 chr6 147631298 147631298 G A rs760345294 STXBP5 Synonymous SNV G332G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.61 238973 chr12 125465270 125465272 CTC - rs376470858 DHX37 E168del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 238974 chr12 129100752 129100752 A G rs377425440 TMEM132C Nonsynonymous SNV S393G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 238975 chr17 6733677 6733677 G A rs201163916 TEKT1 Nonsynonymous SNV P7S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 238976 chr12 129178467 129178467 G A rs142939493 TMEM132C Nonsynonymous SNV A515T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 238977 chr12 130184920 130184920 G A rs138159153 TMEM132D Nonsynonymous SNV R135W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 238978 chr12 132397779 132397779 C T rs757096675 ULK1 Nonsynonymous SNV P378L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.07 238979 chr5 140168222 140168222 T G rs138990368 PCDHA1 Nonsynonymous SNV S783A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.001 238980 chr3 185783729 185783729 T C rs116785841 ETV5 Synonymous SNV G261G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.761 238981 chr1 118644374 118644374 T C rs150821682 SPAG17 Nonsynonymous SNV N208S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 238982 chr16 88504075 88504075 G A rs1021576165 ZNF469 Synonymous SNV T3399T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.536 238983 chr13 20346429 20346429 T C rs368714209 PSPC1 Synonymous SNV A209A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.998 238984 chr3 186974548 186974548 G A rs776925228 MASP1 Synonymous SNV I216I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 238985 chr13 23928709 23928711 GAG - rs764516069 SACS S535del 0 0 0 1 0 0 0.003 0 0 0 0 0 238986 chr5 141335044 141335044 G A rs551542192 PCDH12 Synonymous SNV V791V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.07 238987 chr4 56262471 56262471 C T TMEM165 Nonsynonymous SNV L39F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.975 238988 chr3 193409899 193409899 C T OPA1 Nonsynonymous SNV L920F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 238989 chr17 73627323 73627323 G A rs35273978 RECQL5 Synonymous SNV D485D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.289 238990 chr1 150444354 150444354 C T rs747119137 RPRD2 Nonsynonymous SNV P951L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 238991 chr17 74324862 74324862 G A rs138912060 PRPSAP1 Synonymous SNV D136D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.406 238992 chr17 11572497 11572497 G A DNAH9 Nonsynonymous SNV E950K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.54 238993 chr10 87484409 87484409 T G rs752035238 GRID1 Nonsynonymous SNV I520L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 238994 chr17 14248405 14248405 C T rs768468445 HS3ST3B1 Synonymous SNV F205F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 238995 chr10 909704 909704 G C rs780986495 LARP4B Nonsynonymous SNV L137V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.216 238996 chr4 185612499 185612499 G T rs575560096 PRIMPOL Nonsynonymous SNV R210L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.093 238997 chr10 95134589 95134589 G A rs141523035 MYOF Synonymous SNV A731A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.89 238998 chr3 35781028 35781028 C - ARPP21 S604Hfs*70 0.001 0.003 0 0 1 1 0 0 0 0 0 0 238999 chr3 35781030 35781030 C G ARPP21 Synonymous SNV P603P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.27 239000 chr13 51825626 51825626 G A rs575014208 FAM124A Synonymous SNV A41A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 239001 chr4 187455101 187455101 G A rs142480247 MTNR1A Synonymous SNV P265P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.361 239002 chr4 81952703 81952703 C A BMP3 Synonymous SNV R89R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 239003 chr10 99531566 99531566 C G rs763975540 SFRP5 Nonsynonymous SNV G9R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.85 239004 chr3 40085729 40085729 A T rs78333608 MYRIP Nonsynonymous SNV K100M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 239005 chr13 102946330 102946330 T C rs59147558 FGF14 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 0.536 239006 chr17 2323493 2323493 G C METTL16 Nonsynonymous SNV A487G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.71 239007 chr17 80020788 80020788 C T rs138365909 DUS1L Synonymous SNV E153E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.52 239008 chr17 80022900 80022900 G A rs142203947 DUS1L Synonymous SNV R12R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.279 239009 chr17 80049539 80049539 C T rs775308391 FASN Nonsynonymous SNV G351R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.4 239010 chr6 37443932 37443932 C T rs139170430 CMTR1 Synonymous SNV A689A 0 0.005 0 0 0 2 0 0 0 0 0 0 17.38 239011 chr5 177658496 177658496 C G rs201799075 PHYKPL Nonsynonymous SNV D30H 0 0.003 0 0 0 1 0 0 0 0 0 0 27 239012 chr17 27958874 27958874 T A rs117660666 SSH2 Nonsynonymous SNV H1086L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.721 239013 chr17 8221905 8221905 C T ARHGEF15 Synonymous SNV S599S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.45 239014 chr5 10260945 10260945 C T rs199781336 CCT5 Synonymous SNV G250G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.31 239015 chr17 29325882 29325882 C G rs758480776 RNF135 Nonsynonymous SNV H324Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 239016 chr17 30326003 30326003 G T SUZ12 Nonsynonymous SNV S711I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 239017 chr18 22804594 22804594 G A rs148321586 ZNF521 Synonymous SNV C876C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.339 239018 chr11 10631339 10631339 C T MRVI1 Nonsynonymous SNV V188I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 239019 chr6 4995504 4995504 G A rs373716513 RPP40 Synonymous SNV Y277Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 7.246 239020 chr5 41154084 41154084 C T rs375320778 C6 Synonymous SNV K706K 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 12.84 239021 chr3 57326033 57326033 A G rs146006190 ASB14 Nonsynonymous SNV I10T 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 239022 chr1 175355352 175355352 G A rs375626142 TNR Synonymous SNV V198V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 239023 chr17 38904565 38904565 C G rs764991038 KRT25 Nonsynonymous SNV R439S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 239024 chr3 62358199 62358199 G C rs556316506 FEZF2 Synonymous SNV G115G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.129 239025 chr18 34298277 34298277 A C rs751843910 FHOD3 Nonsynonymous SNV I814L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 239026 chr14 24785547 24785547 C A LTB4R Nonsynonymous SNV F230L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 239027 chr11 118771962 118771962 G A rs780336341 BCL9L Synonymous SNV G830G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.846 239028 chr5 66479737 66479737 C A rs373024946 CD180 Nonsynonymous SNV G312W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 239029 chr14 24843056 24843056 C T NFATC4 Nonsynonymous SNV S572L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 239030 chr1 185985120 185985120 C T rs775412545 HMCN1 Nonsynonymous SNV T1647M 0 0 0 1 0 0 0.003 0 0 0 0 0 3.022 239031 chr1 18808160 18808160 A G rs756755993 KLHDC7A Nonsynonymous SNV I229V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 239032 chr14 35036971 35036971 A G rs142172227 SNX6 Nonsynonymous SNV I326T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.9 239033 chr17 42266704 42266704 G A rs752137509 TMUB2 Nonsynonymous SNV R97Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.75 239034 chr5 141027015 141027015 C T rs376436093 FCHSD1 Nonsynonymous SNV A260T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 239035 chr11 123814145 123814145 G T rs145832379 OR6T1 Nonsynonymous SNV T134N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.44 239036 chr1 201044632 201044632 A G CACNA1S Nonsynonymous SNV C647R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 239037 chr20 61299238 61299238 G A rs373388330 SLCO4A1 Synonymous SNV T538T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.391 239038 chr17 4461361 4461361 G A GGT6 Synonymous SNV H445H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.431 239039 chr4 88035715 88035715 C A AFF1 Nonsynonymous SNV A208D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.18 239040 chr14 51288551 51288551 G A rs116619609 LOC105370489 0 0 0 1 0 0 0.003 0 0 0 0 0 5.314 239041 chr17 4644036 4644036 C T rs147132596 ZMYND15 Nonsynonymous SNV H65Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.56 239042 chr17 46670532 46670532 C A rs753371278 HOXB5 Synonymous SNV G171G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 239043 chr4 89300127 89300127 G A rs61997163 HERC6 Synonymous SNV A18A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.77 239044 chr18 7038884 7038884 G T rs781121049 LAMA1 Nonsynonymous SNV N496K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 239045 chr18 72343718 72343718 T C ZNF407 Nonsynonymous SNV L248P 0 0 0 1 0 0 0.003 0 0 0 0 0 25 239046 chr11 1274130 1274130 A G rs369321121 MUC5B Nonsynonymous SNV N5046S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.196 239047 chr18 77464814 77464814 G A rs146831211 CTDP1 Synonymous SNV T104T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.46 239048 chr18 9550086 9550086 C T PPP4R1 Synonymous SNV K837K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.96 239049 chr17 559085 559085 A C rs777900088 VPS53 Nonsynonymous SNV S132A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.52 239050 chr14 65017661 65017661 T A rs142499430 PPP1R36 Nonsynonymous SNV M31K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.95 239051 chr5 121488180 121488180 G C rs115272628 ZNF474 Synonymous SNV L165L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.108 239052 chr19 10220803 10220803 G A rs746369048 PPAN, PPAN-P2RY11 Nonsynonymous SNV A182T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 239053 chr19 10334679 10334679 C T rs149865919 S1PR2 Synonymous SNV R301R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 11.45 239054 chr14 74370739 74370739 C G rs372362861 ZNF410 Stop gain S33X 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 239055 chr11 1861657 1861657 C A TNNI2 Nonsynonymous SNV R14S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 239056 chr19 10745729 10745729 A G rs35362308 SLC44A2 Synonymous SNV A343A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.101 239057 chr19 10745923 10745923 C T rs7255431 SLC44A2 Synonymous SNV S378S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.28 239058 chr19 10753983 10753983 G A rs34625417 SLC44A2 Synonymous SNV S679S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.3 239059 chr14 75283937 75283937 G T rs761297660 YLPM1 Nonsynonymous SNV G1968V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 239060 chr19 11238745 11238745 C T rs751216643 LDLR Synonymous SNV S623S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.51 239061 chr4 156276938 156276938 T C MAP9 Nonsynonymous SNV D407G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 239062 chr4 15720540 15720540 G A rs34163939 BST1 Nonsynonymous SNV G239R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 27.5 239063 chr5 176636885 176636885 T C rs762139163 NSD1 Synonymous SNV A495A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.843 239064 chr19 11527680 11527680 C T rs138349530 RGL3 Synonymous SNV R67R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.47 239065 chr19 11557117 11557117 G A rs141514451 PRKCSH Synonymous SNV P238P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.22 239066 chr19 11917766 11917766 G C rs146374297 ZNF491 Nonsynonymous SNV G333A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 239067 chr19 11976987 11976987 C T rs10421552 ZNF439 Nonsynonymous SNV P6S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.021 239068 chr19 11977147 11977147 G A rs10420385 ZNF439 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.84 239069 chr5 176952101 176952101 C T rs201231555 FAM193B Nonsynonymous SNV D461N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.1 239070 chr5 176952178 176952178 T G rs185300146 FAM193B Nonsynonymous SNV E435A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.38 239071 chr4 16020052 16020052 C T rs748149698 PROM1 Nonsynonymous SNV R290Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.52 239072 chr5 177019285 177019285 A T rs139247267 TMED9 Nonsynonymous SNV T24S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 239073 chr1 22222726 22222726 G C HSPG2 Synonymous SNV R47R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.617 239074 chr19 12876810 12876810 T C rs755271014 HOOK2 Synonymous SNV L510L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.703 239075 chr7 117365121 117365121 G T rs148829510 CTTNBP2 Nonsynonymous SNV P1398T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.8 239076 chr11 27384562 27384562 G A rs745933893 CCDC34 Synonymous SNV S60S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 239077 chr17 7157990 7157990 G A ELP5 Nonsynonymous SNV A109T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 239078 chr1 225533815 225533815 C T rs774347696 DNAH14 Synonymous SNV G3610G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.84 239079 chr11 30925153 30925153 G T rs763363858 DCDC1 Synonymous SNV I569I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.236 239080 chr1 226032993 226032993 C T rs771188836 EPHX1 Nonsynonymous SNV P438L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.1 239081 chr19 15366403 15366403 G A rs759383572 BRD4 Synonymous SNV S584S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.01 239082 chr19 1555892 1555892 G A rs543107043 MEX3D Synonymous SNV S542S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.296 239083 chr14 96706965 96706965 C T rs200395926 BDKRB2 Synonymous SNV A100A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.09 239084 chr11 3680927 3680927 G A ART1 Nonsynonymous SNV A60T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.959 239085 chr19 16025192 16025192 G A rs753047210 CYP4F11 Synonymous SNV Y440Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.216 239086 chr19 16060690 16060690 T C OR10H4 Synonymous SNV I291I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.383 239087 chr19 16593329 16593329 C T rs10404156 CALR3 Nonsynonymous SNV D284N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 8.647 239088 chr19 16855279 16855279 C T rs376899915 NWD1 Synonymous SNV I82I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 239089 chr14 102484914 102484914 G A rs77113510 DYNC1H1 Synonymous SNV P2768P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 14.64 239090 chr11 4411552 4411552 C T rs751244449 TRIM21 Nonsynonymous SNV E30K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 239091 chr11 45274257 45274257 G A rs200476352 SYT13 Synonymous SNV H187H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.153 239092 chr11 46354914 46354914 G C DGKZ Nonsynonymous SNV C30S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 239093 chr11 47204035 47204035 G C rs145307845 PACSIN3 Nonsynonymous SNV Q44E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 239094 chr1 2340246 2340246 G A rs762111818 PEX10 Nonsynonymous SNV S82L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 239095 chr14 105196496 105196496 C T ADSS1 Synonymous SNV T89T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 6.927 239096 chr11 47611780 47611780 C G rs748080430 C1QTNF4 Nonsynonymous SNV G195R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.371 239097 chr19 17487939 17487939 G A rs142410285 PLVAP Synonymous SNV H53H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.778 239098 chr19 1754096 1754096 G A rs148506212 ONECUT3 Synonymous SNV P145P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.497 239099 chr19 17566530 17566530 - CACGCGGTACTTGTGGCGGCGCAGG rs771965648 NXNL1 Frameshift insertion E189Pfs*36 0 0 0 1 0 0 0.003 0 0 0 0 0 239100 chr19 18120606 18120606 G A rs151273577 ARRDC2 Nonsynonymous SNV V198I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 239101 chr19 18235490 18235490 G A rs368862013 MAST3 Synonymous SNV A299A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.67 239102 chr19 18245506 18245506 G A rs16982210 MAST3 Synonymous SNV E534E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 5.126 239103 chr17 78063989 78063989 G T CCDC40 Nonsynonymous SNV G962W 0 0 0.003 0 0 0 0 1 0 0 0 0 2.66 239104 chr4 42154022 42154022 C T BEND4 Nonsynonymous SNV V47M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 239105 chr17 7907383 7907383 C A GUCY2D Nonsynonymous SNV T312K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 239106 chr17 79077726 79077726 G A rs779998520 BAIAP2 Nonsynonymous SNV S295N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 239107 chr19 19165122 19165122 G A rs141835342 ARMC6 Nonsynonymous SNV G314S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 239108 chr15 40916205 40916205 A T rs763866856 KNL1 Nonsynonymous SNV H1248L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.71 239109 chr15 41029855 41029855 C T rs745401087 RMDN3 Nonsynonymous SNV V399M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 239110 chr15 41105942 41105942 G A rs34516375 ZFYVE19 Nonsynonymous SNV S313N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 29 239111 chr15 41191372 41191372 C A VPS18 Nonsynonymous SNV T119K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 239112 chr15 41245824 41245824 C G CHAC1 Nonsynonymous SNV Q15E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.933 239113 chr17 79870429 79870429 T C rs752696094 SIRT7 Nonsynonymous SNV S356G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 239114 chr17 79913273 79913273 G A rs764419336 NOTUM Nonsynonymous SNV P379L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 239115 chr15 42109829 42109829 G A MAPKBP1 Synonymous SNV Q600Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.623 239116 chr15 42111111 42111111 G A MAPKBP1 Synonymous SNV K749K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.873 239117 chr17 81052067 81052067 G A rs199638541 METRNL Nonsynonymous SNV R228H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.67 239118 chr5 82834005 82834005 A C rs769603372 VCAN Nonsynonymous SNV E741A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.44 239119 chr4 657979 657979 T A rs149880099 PDE6B Nonsynonymous SNV S315T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 239120 chr17 8218891 8218891 C T rs562206017 ARHGEF15 Nonsynonymous SNV R474W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 239121 chr15 48431269 48431269 T C rs752402074 SLC24A5 Synonymous SNV C325C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.288 239122 chr15 48623959 48623959 C T DUT Nonsynonymous SNV P83S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.587 239123 chr5 96328807 96328807 A G rs754811117 LNPEP Nonsynonymous SNV Y407C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 239124 chr18 19080075 19080075 C T rs368823549 GREB1L Synonymous SNV H1259H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 239125 chr19 35786682 35786682 G A rs199750254 MAG Synonymous SNV P46P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.771 239126 chr18 32887924 32887924 C T rs905102174 ZNF271P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.233 239127 chr1 28286666 28286666 C T rs201643190 XKR8 Nonsynonymous SNV T29I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.76 239128 chr15 58855810 58855810 T A LIPC Nonsynonymous SNV W426R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 239129 chr18 3457439 3457439 A T rs28939693 TGIF1 Nonsynonymous SNV Q110L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.7 239130 chr18 48723279 48723279 G C rs778807101 MEX3C Nonsynonymous SNV R138G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 239131 chr19 3834861 3834861 A G rs375872214 ZFR2 Synonymous SNV G58G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.194 239132 chr19 40885506 40885506 G A rs200607293 HIPK4 Synonymous SNV T613T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.364 239133 chr18 70532430 70532430 T C rs143784766 NETO1 Synonymous SNV K25K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.515 239134 chr6 13794147 13794147 C T rs3823247 MCUR1 Synonymous SNV L296L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.93 239135 chr1 43675676 43675676 C G CFAP57 Nonsynonymous SNV S673C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.11 239136 chr1 43825035 43825035 A T CDC20 Nonsynonymous SNV H50L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.838 239137 chr18 76753419 76753419 C T SALL3 Synonymous SNV H476H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.349 239138 chr18 76953239 76953239 C T rs201699459 ATP9B Synonymous SNV H310H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.74 239139 chr19 42863271 42863271 G C MEGF8 Nonsynonymous SNV A1722P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 239140 chr15 86311589 86311589 T C KLHL25 Nonsynonymous SNV T485A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.13 239141 chr2 112990866 112990866 G A ZC3H8 Nonsynonymous SNV T235I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.2 239142 chr19 10369392 10369392 G A rs753720611 MRPL4 Nonsynonymous SNV R257H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.299 239143 chr6 15452273 15452273 T G JARID2 Synonymous SNV S120S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.126 239144 chr6 157527809 157527809 G A rs374035954 ARID1B Nonsynonymous SNV R1135H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 239145 chr19 10439724 10439724 C T rs199975670 RAVER1 Nonsynonymous SNV R117H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 239146 chr19 1046934 1046934 C T rs768028295 ABCA7 Nonsynonymous SNV L586F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 239147 chr5 95765014 95765014 G A rs756287752 PCSK1 Nonsynonymous SNV S63L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 239148 chr15 90335786 90335786 C T rs1803098 ANPEP Nonsynonymous SNV E753K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 239149 chr19 12865432 12865432 C T rs770565791 BEST2 Nonsynonymous SNV A105V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 239150 chr19 45864873 45864873 C G rs372468267 ERCC2 Synonymous SNV L358L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.963 239151 chr7 97736523 97736523 C T LMTK2 Synonymous SNV L12L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.696 239152 chr7 100212496 100212496 G T rs148593773 MOSPD3 Nonsynonymous SNV R163L 0 0.005 0 0 0 2 0 0 0 0 0 0 11.63 239153 chr19 14520133 14520133 C G rs151091447 DDX39A Synonymous SNV S367S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 239154 chr19 14584869 14584869 G A rs200091128 PTGER1 Synonymous SNV H88H 0 0 0.007 0 0 0 0 2 0 0 0 0 6.661 239155 chr19 46997198 46997198 C T PNMA8B Nonsynonymous SNV E509K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 239156 chr19 47571021 47571021 G A ZC3H4 Nonsynonymous SNV S835L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.445 239157 chr16 707099 707099 G A rs199932886 WDR90 Nonsynonymous SNV R784Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.736 239158 chr6 17426846 17426846 T C rs59744718 CAP2 Synonymous SNV F49F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 8.912 239159 chr19 15880483 15880483 T C rs551491377 CYP4F24P 0 0 0.01 0 0 0 0 3 0 0 0 0 1.628 239160 chr1 75606695 75606695 G A rs764744913 LHX8 Nonsynonymous SNV R88Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 239161 chr16 1838620 1838620 G A rs561470787 NUBP2 Nonsynonymous SNV R92Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.07 239162 chr19 49573692 49573692 G A rs147370499 KCNA7 Synonymous SNV A333A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.78 239163 chr19 49636616 49636616 G A rs147018094 PPFIA3 Synonymous SNV A383A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 239164 chr5 149460544 149460544 G A rs41424646 CSF1R Synonymous SNV V31V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.729 239165 chr19 1810622 1810622 T C rs768337670 ATP8B3 Synonymous SNV S50S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.814 239166 chr16 3706696 3706696 C T rs780408465 DNASE1 Synonymous SNV C126C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.64 239167 chr19 18186560 18186560 A - IL12RB1 E234Kfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 239168 chr7 100634134 100634134 C T rs1020728381 MUC12 Nonsynonymous SNV P97L 0 0.005 0 0 0 2 0 0 0 0 0 0 15.49 239169 chr19 18391813 18391813 G A JUND Nonsynonymous SNV A118V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.091 239170 chr1 909859 909859 C T rs144540961 PLEKHN1 Synonymous SNV Y545Y 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.525 239171 chr16 5094794 5094794 G A rs543991283 C16orf89 Synonymous SNV L333L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.374 239172 chr7 102109430 102109430 C G LRWD1 Nonsynonymous SNV F231L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.37 239173 chr7 103197446 103197446 T C rs2711866 RELN Synonymous SNV R1925R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.703 239174 chr5 16572211 16572211 C A rs200065908 RETREG1 Nonsynonymous SNV W107C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 239175 chr11 67816374 67816374 G C rs555362865 TCIRG1 Nonsynonymous SNV S312T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.183 239176 chr16 14042070 14042070 A G rs2020957 ERCC4 Nonsynonymous SNV I873V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 13.12 239177 chr16 15609262 15609262 C T rs114099173 BMERB1 Synonymous SNV R52R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.82 239178 chr16 15711345 15711345 G A rs368220990 MARF1 Nonsynonymous SNV T923M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.44 239179 chr19 52091449 52091449 A G rs746283244 ZNF175 Nonsynonymous SNV K622R 0 0 0 1 0 0 0.003 0 0 0 0 0 14 239180 chr19 52129355 52129355 C T rs757275164 SIGLEC5 Nonsynonymous SNV R465H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.772 239181 chr11 68846381 68846381 G T TPCN2 Nonsynonymous SNV V478L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 239182 chr5 171218001 171218001 G C rs146713808 SMIM23 Nonsynonymous SNV S143T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.762 239183 chr19 32844430 32844430 G T rs138584868 ZNF507 Nonsynonymous SNV A232S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 239184 chr8 144652793 144652793 G A rs756571004 MROH6 Nonsynonymous SNV S252L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.3 239185 chr19 52569232 52569232 T C rs533229085 ZNF841 Nonsynonymous SNV S519G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.31 239186 chr19 52919563 52919563 T A rs138189799 ZNF528 Synonymous SNV I486I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.989 239187 chr6 160999587 160999587 G A rs768808174 LPA Nonsynonymous SNV P1480L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.41 239188 chr6 161771219 161771219 G A rs149953814 PRKN Nonsynonymous SNV P288L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 239189 chr19 35719430 35719430 A C rs777692077 FAM187B Nonsynonymous SNV Y52D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 239190 chr16 23646744 23646744 G A rs373298267 PALB2 Synonymous SNV L375L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.365 239191 chr16 23700665 23700665 T C rs138696434 PLK1 Synonymous SNV T459T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.046 239192 chr6 167711491 167711491 C A UNC93A Synonymous SNV T186T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.709 239193 chr11 75133786 75133786 G A rs781149653 KLHL35 Synonymous SNV D530D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 239194 chr2 196722153 196722153 T C DNAH7 Nonsynonymous SNV T2788A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.11 239195 chr11 76256954 76256954 A T rs770203344 EMSY Synonymous SNV T1130T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.005 239196 chr19 36536753 36536753 C T rs937756700 LOC101927572 Synonymous SNV A114A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.805 239197 chr16 28506743 28506743 C T rs747438091 APOBR Synonymous SNV A127A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.996 239198 chr8 145649410 145649412 GGA - rs782134512 VPS28 L187del 0 0.003 0 0 0 1 0 0 0 0 0 0 239199 chr5 26906886 26906886 G C rs201744856 CDH9 Synonymous SNV A195A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.67 239200 chr8 145665802 145665802 C T rs781444785 TONSL Nonsynonymous SNV E408K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 239201 chr19 38850180 38850180 T A rs779553878 CATSPERG Nonsynonymous SNV S483T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 239202 chr19 55046930 55046930 A G rs564853193 KIR3DX1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 239203 chr19 3959458 3959458 C T rs537660810 DAPK3 Nonsynonymous SNV E336K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 239204 chr16 50136320 50136320 G C rs149086832 HEATR3 Nonsynonymous SNV E401Q 0 0 0 3 0 0 0.008 0 0 0 0 0 20.3 239205 chr20 30432948 30432948 G T FOXS1 Nonsynonymous SNV P133H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 239206 chr19 41040016 41040016 C T rs761593172 SPTBN4 Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 239207 chr16 57935274 57935274 G A rs543509332 CNGB1 Synonymous SNV N980N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.56 239208 chr5 52360743 52360743 G A ITGA2 Nonsynonymous SNV G535D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 239209 chr6 83904171 83904171 A G rs758566524 RWDD2A Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 239210 chr16 67440235 67440235 G A rs769358583 ZDHHC1 Synonymous SNV R40R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 239211 chr16 68679303 68679303 T C CDH3 Synonymous SNV P7P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.92 239212 chr12 104698662 104698662 T C EID3 Nonsynonymous SNV I317T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 239213 chr19 5680471 5680471 C T rs748992582 MICOS13 Nonsynonymous SNV M9I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 239214 chr5 640564 640564 G C CEP72 Nonsynonymous SNV A462P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.88 239215 chr6 37250068 37250068 C G rs149035515 TBC1D22B Nonsynonymous SNV P177A 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 10.33 239216 chr16 70500069 70500069 C A rs775584717 FCSK Nonsynonymous SNV A107D 0 0 0 1 0 0 0.003 0 0 0 0 0 32 239217 chr5 66461583 66461583 C T rs56201012 MAST4 Synonymous SNV H1931H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.18 239218 chr19 44833869 44833869 T G rs376310657 ZNF112 Nonsynonymous SNV E86D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 239219 chr5 66479383 66479383 T C rs2230523 CD180 Nonsynonymous SNV T430A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 239220 chr16 71956524 71956535 ATGCCCATGCCT - rs767293996 IST1 M88_P91del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 239221 chr19 45406342 45406342 C G TOMM40 Synonymous SNV P334P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 239222 chr16 84203639 84203639 A T rs144034147 DNAAF1 Nonsynonymous SNV E166V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 8.064 239223 chr12 116445345 116445345 T C MED13L Synonymous SNV Q703Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 239224 chr20 5924232 5924232 G A rs76084941 TRMT6 Synonymous SNV L44L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.492 239225 chr20 6011982 6011982 T C rs202046329 CRLS1 Nonsynonymous SNV V110A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 239226 chr20 6022851 6022851 C T rs150930367 LRRN4 Nonsynonymous SNV G347D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 239227 chr19 6750049 6750049 G T TRIP10 Nonsynonymous SNV R400L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 239228 chr19 49129476 49129476 G A SPHK2 Nonsynonymous SNV G87D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 239229 chr16 84495503 84495503 G A rs913187374 ATP2C2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.121 239230 chr19 49224120 49224120 C T rs34800326 RASIP1 Nonsynonymous SNV D943N 0 0 0.007 0 0 0 0 2 0 0 0 0 29.4 239231 chr16 87445759 87445759 G A rs748624012 ZCCHC14 Synonymous SNV N856N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.026 239232 chr16 88496309 88496309 C T rs751453279 ZNF469 Nonsynonymous SNV P811S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 239233 chr5 90106575 90106575 G A rs745385503 ADGRV1 Synonymous SNV T5166T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.006 239234 chr16 88666261 88666261 G A rs115553208 ZC3H18 Synonymous SNV T331T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.32 239235 chr19 50028775 50028775 G T FCGRT Synonymous SNV T311T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.182 239236 chr19 50188067 50188067 G A rs143994257 PRMT1 Synonymous SNV E186E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 239237 chr19 50193127 50193127 C T ADM5 Synonymous SNV L11L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.66 239238 chr19 50982309 50982309 C T rs764238587 EMC10 Nonsynonymous SNV R95W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 239239 chr2 241685184 241685184 G C rs370286749 KIF1A Synonymous SNV A1014A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.878 239240 chr7 100648136 100648136 A G rs941316059 MUC12 Synonymous SNV G4764G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.433 239241 chr6 100390875 100390875 G A rs139619654 MCHR2 Synonymous SNV D179D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.135 239242 chr7 48018064 48018064 T C rs1051302184 HUS1 Nonsynonymous SNV I82V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 239243 chr20 62839095 62839095 G A MYT1 Synonymous SNV E182E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.072 239244 chr7 103207048 103207048 C T RELN Nonsynonymous SNV G1583R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 239245 chr17 1374429 1374429 G A rs766761529 MYO1C Synonymous SNV F716F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.72 239246 chr6 112508755 112508755 G C rs150084275 LAMA4 Nonsynonymous SNV A288G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.98 239247 chr7 55606308 55606308 G A rs745834315 VOPP1 Stop gain Q15X 0 0.003 0 0 0 1 0 0 0 0 0 0 4.263 239248 chr6 90457088 90457088 G A rs370668260 MDN1 Synonymous SNV T1288T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.267 239249 chr19 9073088 9073088 G C MUC16 Synonymous SNV T4786T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.894 239250 chr7 100282741 100282741 G A rs146520591 GIGYF1 Synonymous SNV P407P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.18 239251 chr19 9727815 9727815 G C rs765101062 ZNF561 Nonsynonymous SNV D49E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 239252 chr21 38884549 38884549 C T DYRK1A Synonymous SNV S631S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.6 239253 chr17 3788649 3788649 G T rs188928267 CAMKK1 Synonymous SNV S111S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.165 239254 chr6 127836007 127836007 G T SOGA3 Synonymous SNV I429I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.55 239255 chr17 3924566 3924566 C T rs781861 ZZEF1 Nonsynonymous SNV A2421T 0 0 0.01 1 0 0 0.003 3 0 0 0 0 13.96 239256 chr19 54652124 54652124 C G rs184037221 CNOT3 Nonsynonymous SNV A379G 0 0 0.01 0 0 0 0 3 0 0 0 0 0.989 239257 chr1 1022530 1022530 C G rs144168476 C1orf159 Nonsynonymous SNV R100P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.327 239258 chr6 1313299 1313299 C G FOXQ1 Synonymous SNV P120P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.05 239259 chr1 108309117 108309117 T A VAV3 Nonsynonymous SNV N258I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 239260 chr7 134643019 134643019 A T CALD1 Nonsynonymous SNV E419V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 239261 chr17 4803248 4803248 G T rs753823312 C17orf107 Synonymous SNV P28P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.04 239262 chr7 100550488 100550488 A G MUC3A Nonsynonymous SNV M357V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.972 239263 chr2 44586645 44586645 G C PREPL Nonsynonymous SNV F70L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 22.7 239264 chr7 138824711 138824711 C T rs200364043 TTC26 Nonsynonymous SNV L73F 0.001 0 0 0 1 0 0 0 0 0 0 0 29 239265 chr2 54844824 54844824 C T SPTBN1 Nonsynonymous SNV R203W 0.003 0.005 0 0 4 2 0 0 0 0 0 0 35 239266 chr19 56090918 56090918 G A rs538559720 ZNF579 Nonsynonymous SNV R30C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 239267 chr17 7126527 7126527 C T rs745832866 ACADVL Nonsynonymous SNV R363W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 239268 chr7 142612727 142612727 C A TRPV5 Nonsynonymous SNV E378D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.518 239269 chr7 142723562 142723562 T C rs747510651 OR9A2 Nonsynonymous SNV T220A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 239270 chr21 47552207 47552207 G A rs767571185 COL6A2 Nonsynonymous SNV G934D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 239271 chr2 68882456 68882456 C G rs147273197 PROKR1 Nonsynonymous SNV F310L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.5 239272 chr2 68882507 68882507 C T rs146739408 PROKR1 Synonymous SNV V327V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.54 239273 chr7 99091797 99091797 C T rs977831559 ZNF394 Synonymous SNV E347E 0 0.005 0 0 0 2 0 0 0 0 0 0 10.59 239274 chr2 70387834 70387834 C T C2orf42 Nonsynonymous SNV S480N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.46 239275 chr1 114269189 114269189 T C rs371219060 PHTF1 Synonymous SNV A113A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 239276 chr7 99697373 99697373 G A rs139618259 MCM7 Nonsynonymous SNV R39W 0 0.005 0 0 0 2 0 0 0 0 0 0 23.5 239277 chr1 114454136 114454136 G A rs764707652 DCLRE1B Nonsynonymous SNV D182N 0 0 0 1 0 0 0.003 0 0 0 0 0 21 239278 chr12 50036040 50036040 G A rs145307949 PRPF40B Nonsynonymous SNV R614Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 239279 chr6 159028307 159028307 C T TMEM181 Nonsynonymous SNV S339F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 239280 chr1 116243903 116243903 C T CASQ2 Nonsynonymous SNV E387K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 239281 chr1 117620635 117620635 G A rs753668079 TTF2 Synonymous SNV T557T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.644 239282 chr6 160205084 160205084 A T TCP1 Nonsynonymous SNV I74N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 239283 chr7 103294611 103294611 T C rs150850005 RELN Nonsynonymous SNV I495V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 0.012 239284 chr7 107642030 107642030 T C rs760227968 LAMB1 Synonymous SNV E62E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.94 239285 chr8 106810991 106810991 G A rs200834568 ZFPM2 Nonsynonymous SNV R207Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Pathogenic 34 239286 chr17 11550431 11550431 A G rs141159135 DNAH9 Synonymous SNV S671S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.36 239287 chr1 120438333 120438333 T G ADAM30 Synonymous SNV L209L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.197 239288 chr6 163735907 163735907 T C rs147721579 PACRG Nonsynonymous SNV I221T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.1 239289 chr17 17041350 17041350 C T rs149713040 MPRIP Nonsynonymous SNV P318L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.58 239290 chr19 6374475 6374475 G T rs374948258 ALKBH7 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 239291 chr8 121222054 121222054 G C rs376624185 COL14A1 Nonsynonymous SNV V461L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.82 239292 chr2 9475233 9475233 C G ASAP2 Synonymous SNV A258A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 14.02 239293 chr1 149871744 149871744 G A rs139304680 BOLA1 Synonymous SNV L44L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.43 239294 chr1 149906991 149906991 C T rs62621238 MTMR11 Nonsynonymous SNV R47H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.2 239295 chr19 7688664 7688664 G A XAB2 Nonsynonymous SNV H358Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 239296 chr19 808736 808736 G A rs376291058 PTBP1 Synonymous SNV S453S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.22 239297 chr1 152648574 152648574 G A LCE2C Nonsynonymous SNV C28Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.996 239298 chr17 26692142 26692142 C T rs201480805 SEBOX 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.58 239299 chr1 153751646 153751646 A G rs141869816 SLC27A3 Nonsynonymous SNV D568G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 239300 chr8 139209815 139209815 C T rs200240655 FAM135B Nonsynonymous SNV R256H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.23 239301 chr17 27085337 27085337 - CGGGGGCTCGGTTGC rs773596184 FAM222B P546_D547insGNRAP 0 0 0 2 0 0 0.005 0 0 0 0 0 239302 chr1 155150509 155150509 C T rs200101692 TRIM46 Nonsynonymous SNV S188L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 239303 chr7 33644816 33644816 C G BBS9 Nonsynonymous SNV P724R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 239304 chr6 35248957 35248957 C A rs554687025 ZNF76 Nonsynonymous SNV T10N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 239305 chr9 19346426 19346426 T C rs199739824 DENND4C Nonsynonymous SNV L1171S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 239306 chr17 38416827 38416827 G A rs142659099 WIPF2 Nonsynonymous SNV R35Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.9 239307 chr6 36263171 36263171 G A rs45524833 PNPLA1 Nonsynonymous SNV E163K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 16.34 239308 chr6 36291148 36291148 C G BNIP5 Nonsynonymous SNV E465Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 239309 chr1 158532694 158532694 C T rs77302108 OR6P1 Nonsynonymous SNV R234H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 239310 chr1 158533017 158533017 G A rs10489837 OR6P1 Synonymous SNV I126I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.841 239311 chr1 158576687 158576687 C A rs148998855 OR10Z1 Stop gain Y153X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 239312 chr1 158626382 158626382 G A rs34706737 SPTA1 Nonsynonymous SNV A957V 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign/Likely benign 23.3 239313 chr8 145737698 145737698 C A RECQL4 Nonsynonymous SNV R1022L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 9.484 239314 chr1 158746955 158746955 A T rs114399082 OR6N2 Synonymous SNV I157I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.359 239315 chr12 863093 863093 G T WNK1 Nonsynonymous SNV R121L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.27 239316 chr6 41752730 41752730 G A rs140175299 PRICKLE4 Nonsynonymous SNV A100T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 239317 chr17 39406231 39406231 G T rs142016041 KRTAP9-4 Nonsynonymous SNV G87W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.27 239318 chr1 110734758 110734758 G A rs749859472 SLC6A17 Synonymous SNV T343T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.84 239319 chr1 159858278 159858278 G T rs145722573 CFAP45 Nonsynonymous SNV T94K 0 0 0 1 0 0 0.003 0 0 0 0 0 4.909 239320 chr1 160109707 160109707 C T rs138826759 ATP1A2 Synonymous SNV F989F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 17.13 239321 chr1 160121885 160121885 C A rs146860131 ATP1A4 Synonymous SNV R19R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.64 239322 chr1 1139240 1139240 C T rs756672746 TNFRSF18 Nonsynonymous SNV E167K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 239323 chr3 133647336 133647336 - G rs745767152 C3orf36 0.002 0.003 0 0 2 1 0 0 0 0 0 0 239324 chr1 11590016 11590016 G A rs200382527 DISP3 Synonymous SNV P1034P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 239325 chr3 133692599 133692599 C T SLCO2A1 Nonsynonymous SNV G102D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.8 239326 chr6 43538688 43538688 G A rs370633103 XPO5 Nonsynonymous SNV A115V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.76 239327 chr13 100622676 100622676 - GGC ZIC5 P424_A425insP 0.001 0 0 0 1 0 0 0 0 0 0 0 239328 chr17 41165677 41165677 G A rs374153933 IFI35 Nonsynonymous SNV G187E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 239329 chr7 72849713 72849713 C G rs373097291 FZD9 Nonsynonymous SNV A459G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 239330 chr17 41245700 41245702 AGA - rs80358329 BRCA1 S569del 0 0 0 1 0 0 0.003 0 0 0 0 0 239331 chr7 73151578 73151578 C T rs369931991 ABHD11 Synonymous SNV A89A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.84 239332 chr1 119683022 119683022 C G WARS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.351 239333 chr1 1274801 1274801 A C DVL1 Nonsynonymous SNV I358S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 239334 chr6 4935849 4935849 C G CDYL Nonsynonymous SNV D29E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 239335 chr1 13839861 13839863 GAA - LRRC38 F76del 0 0 0.007 0 0 0 0 2 0 0 0 0 239336 chr17 43924263 43924263 C T rs372066181 SPPL2C Nonsynonymous SNV A664V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.067 239337 chr9 90582519 90582519 A G rs894292510 CDK20 Nonsynonymous SNV C238R 0 0.005 0 0 0 2 0 0 0 0 0 0 29.1 239338 chr1 145528004 145528004 G A rs782165178 ITGA10 Nonsynonymous SNV A81T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.386 239339 chr17 45915239 45915239 C T SCRN2 Nonsynonymous SNV V417M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 239340 chr1 145562503 145562503 G A rs146166584 ANKRD35 Nonsynonymous SNV A641T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.363 239341 chr17 46196069 46196069 T C rs749690341 SNX11 Synonymous SNV P70P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.01 239342 chr17 46628480 46628512 CCGCCCCCGCTGCCACCACTGCCTCCGCCGCCG - HOXB3 S165_G175del 0 0 0 1 0 0 0.003 0 0 0 0 0 239343 chr1 150530548 150530548 C G rs56228576 ADAMTSL4 Nonsynonymous SNV L769V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 26.7 239344 chr1 150599891 150599891 G A rs779309902 ENSA Stop gain R79X 0 0 0.003 0 0 0 0 1 0 0 0 0 3.665 239345 chr13 19748273 19748273 C T rs1052370 TUBA3C Synonymous SNV T361T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 239346 chr13 20763452 20763452 A G rs80338945 GJB2 Nonsynonymous SNV L90P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 239347 chr7 92028215 92028215 A G rs760790650 ANKIB1 Synonymous SNV Q1074Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 239348 chr17 48917435 48917435 C T rs529248966 WFIKKN2 Synonymous SNV G169G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.45 239349 chr1 153533931 153533931 C A rs758414937 S100A2 Nonsynonymous SNV C60F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 239350 chr17 51901486 51901486 G C KIF2B Synonymous SNV V364V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.602 239351 chr13 28004071 28004071 C T rs930496484 GTF3A Nonsynonymous SNV R123C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 239352 chr1 181767511 181767511 C T rs370456526 CACNA1E Synonymous SNV P2099P 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Likely benign 13.97 239353 chr3 178785414 178785414 C G ZMAT3 Nonsynonymous SNV A43P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.52 239354 chr1 182517955 182517955 A G rs778131453 RGSL1 Nonsynonymous SNV K977E 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 239355 chr7 44113783 44113783 C T rs764966448 POLM Nonsynonymous SNV E340K 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 26.2 239356 chr1 155290884 155290884 G A rs754865207 RUSC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.852 239357 chr17 56688635 56688635 G T rs751314059 TEX14 Synonymous SNV A363A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.615 239358 chr6 83748145 83748145 G A rs759881450 UBE3D Synonymous SNV T32T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.07 239359 chr1 156617472 156617472 G A BCAN Synonymous SNV V213V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 239360 chr13 41949623 41949623 G C NAA16 Nonsynonymous SNV C827S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 239361 chrX 150912051 150912051 T C rs752243694 CNGA2 Nonsynonymous SNV I359T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.98 239362 chr17 72227033 72227033 G A rs150112430 TTYH2 Synonymous SNV A82A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.69 239363 chr8 125987898 125987898 A G ZNF572 Nonsynonymous SNV K6E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 239364 chr7 73085589 73085589 C G VPS37D Nonsynonymous SNV S213R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.55 239365 chr1 169272413 169272413 T C rs201587017 NME7 Nonsynonymous SNV H137R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 239366 chr1 169484808 169484808 C T rs144486119 F5 Synonymous SNV T2134T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.48 239367 chr2 171702071 171702071 G A rs34100397 GAD1 Synonymous SNV P269P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.45 239368 chr14 100070165 100070165 G T CCDC85C Synonymous SNV G44G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.121 239369 chr2 171705849 171705849 C T rs34856125 GAD1 Synonymous SNV N391N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.06 239370 chr2 171709290 171709290 C T rs35426017 GAD1 Synonymous SNV L417L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.95 239371 chr2 171709291 171709291 G T rs143058194 GAD1 Nonsynonymous SNV V418F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.3 239372 chr17 73898142 73898142 C T rs147331508 MRPL38 Nonsynonymous SNV R114Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.58 239373 chr14 100795260 100795260 G A rs113077591 SLC25A47 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.536 239374 chrX 41029728 41029728 T C rs34739511 USP9X Synonymous SNV I961I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.802 239375 chr7 82784833 82784833 T G rs928532393 PCLO Nonsynonymous SNV Q375P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.098 239376 chr2 178990780 178990780 T C rs145011008 RBM45 Synonymous SNV D434D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 6.983 239377 chr14 103571116 103571116 G A rs1010328086 EXOC3L4 Synonymous SNV A442A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 239378 chr2 179578857 179578857 G A rs72648990 TTN Nonsynonymous SNV T7599M 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 239379 chr14 104407769 104407769 T C RD3L Synonymous SNV Q88Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 239380 chr1 179064145 179064145 T C rs138598531 TOR3A Nonsynonymous SNV I329T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 239381 chr7 94056951 94056951 C T rs781292351 COL1A2 Nonsynonymous SNV P1094S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.69 239382 chr7 100732156 100732156 C G TRIM56 Nonsynonymous SNV I521M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 239383 chr7 99704437 99704437 G A rs751435731 AP4M1 Nonsynonymous SNV G439S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 12.77 239384 chr1 186147704 186147704 A G rs538747084 HMCN1 Nonsynonymous SNV Y5367C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 239385 chr1 21890710 21890710 G A rs749544042 ALPL 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 24.7 239386 chr17 79660609 79660609 C G rs145607073 HGS Nonsynonymous SNV Q247E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Likely benign 24.4 239387 chr9 126777632 126777632 C T rs757898602 LHX2 Synonymous SNV D185D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.111 239388 chr9 126783408 126783408 A T rs748107648 LHX2 Nonsynonymous SNV H253L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 239389 chr2 196891630 196891630 G A rs771603013 DNAH7 Nonsynonymous SNV T174I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 239390 chr14 21967946 21967946 C T rs201264595 METTL3 Synonymous SNV R435R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 239391 chr1 201180815 201180815 A C IGFN1 Nonsynonymous SNV Y2265S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.696 239392 chr7 128846412 128846412 C G rs199960351 SMO Synonymous SNV G416G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.62 239393 chr18 5956349 5956349 G A rs746405971 L3MBTL4 Nonsynonymous SNV T572M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 239394 chr18 5969473 5969473 G A rs372242423 L3MBTL4 Synonymous SNV L511L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 10.23 239395 chr2 206872126 206872126 C T rs116331438 INO80D Synonymous SNV P600P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.58 239396 chr8 2033497 2033497 A G rs760507288 MYOM2 Nonsynonymous SNV D540G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 239397 chr1 203677179 203677179 G A rs199804431 ATP2B4 Nonsynonymous SNV D502N 0 0 0.007 0 0 0 0 2 0 0 0 0 22.2 239398 chr18 18586412 18586412 A C rs112165707 ROCK1 Synonymous SNV S595S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 2.034 239399 chr2 212248347 212248347 A G ERBB4 Nonsynonymous SNV V1291A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 239400 chr1 228509911 228509911 C T rs368401317 OBSCN Synonymous SNV D5123D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 239401 chr8 27097502 27097502 G T rs764508091 STMN4 Synonymous SNV R157R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 239402 chr3 55508420 55508420 G A WNT5A Nonsynonymous SNV S195F 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 24.5 239403 chr8 2820757 2820757 G T rs370048118 CSMD1 Synonymous SNV I3147I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.935 239404 chr18 30928852 30928852 A G rs140419270 CCDC178 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.3 239405 chr3 62153793 62153793 T G PTPRG Nonsynonymous SNV M330R 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 18.57 239406 chr18 33848509 33848509 T C rs77657002 MOCOS Nonsynonymous SNV M843T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.4 239407 chr1 215955490 215955490 C T rs375978706 USH2A Nonsynonymous SNV R3545Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 239408 chr8 39587450 39587450 G A ADAM18 Synonymous SNV V713V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.862 239409 chr8 41575151 41575151 G A rs575994670 ANK1 Nonsynonymous SNV R426W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 239410 chr1 220156135 220156135 T C rs547984260 EPRS Nonsynonymous SNV I1118V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 239411 chr18 55221538 55221538 G A FECH Nonsynonymous SNV T311M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 239412 chr1 222823647 222823647 A C rs975413561 MIA3 Nonsynonymous SNV Q93H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 239413 chr7 151574222 151574222 C T PRKAG2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.034 239414 chr9 140150847 140150847 C T rs140521390 NELFB Synonymous SNV P159P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.03 239415 chr1 240656482 240656482 G A rs143137000 GREM2 Synonymous SNV Y98Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.888 239416 chr14 64688397 64688397 T C SYNE2 Nonsynonymous SNV L244P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 239417 chr8 6599202 6599202 A G rs145160561 AGPAT5 Synonymous SNV P172P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.649 239418 chr7 155150497 155150497 C G rs940958868 BLACE 0.001 0 0 0 1 0 0 0 0 0 0 0 0.244 239419 chr8 68074131 68074131 T C rs751572039 CSPP1 Nonsynonymous SNV I525T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 239420 chr1 226822380 226822380 G C rs41268733 ITPKB Nonsynonymous SNV L945V 0 0 0.007 0 0 0 0 2 0 0 0 0 21.4 239421 chr1 246021881 246021881 G A rs9662980 SMYD3 Synonymous SNV L331L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 239422 chr1 247058005 247058005 G A rs141831225 AHCTF1 Nonsynonymous SNV T587M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 239423 chr9 27229223 27229223 C G TEK Nonsynonymous SNV A975G 0 0.003 0 0 0 1 0 0 0 0 0 0 34 239424 chr1 228786774 228786774 C T rs927941453 DUSP5P1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.142 239425 chr7 23757107 23757107 A G rs113382775 STK31 Nonsynonymous SNV N30S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 239426 chr1 22970685 22970685 A C rs780418859 C1QC Nonsynonymous SNV K57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 239427 chr18 72168684 72168684 C T CNDP2 Synonymous SNV L61L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 239428 chr8 93904304 93904304 T G rs935755498 TRIQK 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.6 239429 chr18 72343485 72343485 G A rs368077796 ZNF407 Synonymous SNV P170P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.02 239430 chr8 21769858 21769858 C T rs552782288 DOK2 Nonsynonymous SNV S76N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.79 239431 chr2 235950610 235950610 C T rs144733038 SH3BP4 Synonymous SNV A399A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.863 239432 chr1 248112816 248112816 G C OR2L8 Nonsynonymous SNV Q219H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 239433 chr1 248845270 248845270 G A rs757750424 OR14I1 Synonymous SNV F112F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.247 239434 chr14 89075729 89075729 G A rs181607926 ZC3H14 Nonsynonymous SNV V234I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.191 239435 chr14 90650957 90650957 C T KCNK13 Synonymous SNV I279I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 239436 chr19 1054190 1054190 A G rs376824416 ABCA7 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.18 239437 chr19 1068688 1068688 C T rs202246041 ARHGAP45 Synonymous SNV D138D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.17 239438 chr9 79936623 79936623 A G rs770628177 VPS13A Nonsynonymous SNV M1892V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 239439 chr19 1969840 1969840 G C rs770881032 CSNK1G2 Synonymous SNV G23G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.205 239440 chr15 24923698 24923698 C T NPAP1 Nonsynonymous SNV S895F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.576 239441 chr1 34238289 34238289 C T rs747186209 CSMD2 Nonsynonymous SNV R576Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26 239442 chr1 36039778 36039778 C T TFAP2E Nonsynonymous SNV P93L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 239443 chr19 3011030 3011030 C T rs34595211 TLE2 Synonymous SNV T212T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 239444 chr19 3739073 3739073 G A rs751271240 TJP3 Synonymous SNV A524A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 239445 chr19 3746608 3746608 G C TJP3 Nonsynonymous SNV W712C 0 0 0 1 0 0 0.003 0 0 0 0 0 28 239446 chr15 34150031 34150031 G T rs377333580 RYR3 Synonymous SNV V4681V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.735 239447 chr1 2488100 2488100 A T rs755398488 TNFRSF14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.06 239448 chr19 3885838 3885838 C T ATCAY Nonsynonymous SNV P25S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 239449 chr2 29296933 29296933 C G rs369928868 PCARE Nonsynonymous SNV R65S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 4.246 239450 chr1 38265659 38265659 G A rs551774902 MANEAL Synonymous SNV T164T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 239451 chr1 26672614 26672614 G A rs369572103 CRYBG2 Nonsynonymous SNV R179W 0 0 0.003 0 0 0 0 1 0 0 0 0 9.403 239452 chr15 40616464 40616464 G T rs537506734 INAFM2 Nonsynonymous SNV G70W 0.003 0 0 0 3 0 0 0 0 0 0 0 9.647 239453 chr9 125639836 125639836 A C RC3H2 Synonymous SNV T413T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.673 239454 chr9 125681599 125681599 A G ZBTB26 Synonymous SNV S205S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.475 239455 chr15 41815101 41815101 G T rs150273751 RPAP1 Synonymous SNV P868P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.995 239456 chr15 41829267 41829267 A C rs142505884 RPAP1 Nonsynonymous SNV S19R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.14 239457 chrX 119419490 119419490 G T TMEM255A Nonsynonymous SNV A162E 0 0.008 0 0 0 3 0 0 0 0 0 0 15.43 239458 chr15 42107498 42107498 C T MAPKBP1 Synonymous SNV P404P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 239459 chr7 7413089 7413089 G T COL28A1 Synonymous SNV I816I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 239460 chr9 13121827 13121827 T C rs182389570 MPDZ Synonymous SNV P1681P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.616 239461 chr9 131597652 131597652 C T rs199760544 KYAT1 Nonsynonymous SNV V308M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.16 239462 chr1 46662507 46662507 G A POMGNT1 Nonsynonymous SNV R62C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.7 239463 chr1 46726433 46726433 G A rs145441107 RAD54L Nonsynonymous SNV R171Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 239464 chr1 46726562 46726562 C A RAD54L Nonsynonymous SNV A34E 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 239465 chr1 46740337 46740337 G A rs374574941 RAD54L Nonsynonymous SNV R426Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 239466 chr1 39384726 39384726 C T rs141835559 RHBDL2 Nonsynonymous SNV M133I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 239467 chr9 111812877 111812877 T C rs191001473 TMEM245 Synonymous SNV T650T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.455 239468 chr2 63282866 63282866 C G OTX1 Nonsynonymous SNV N160K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.17 239469 chr7 97841653 97841653 G A rs746181529 BHLHA15 Nonsynonymous SNV R11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 239470 chr7 98574675 98574675 C T rs148332844 TRRAP Synonymous SNV Y2762Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.23 239471 chr1 45272015 45272015 C T rs749529570 TCTEX1D4 Nonsynonymous SNV R109H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 239472 chr11 100999762 100999762 C A rs760920621 PGR Nonsynonymous SNV V14L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 239473 chr1 46500549 46500549 A G rs371299564 MAST2 Nonsynonymous SNV K1402R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 239474 chrX 36254075 36254075 A G CFAP47 Nonsynonymous SNV T2347A 0 0.005 0 0 0 2 0 0 0 0 0 0 6.723 239475 chr1 47655567 47655567 G A rs11552560 PDZK1IP1 Nonsynonymous SNV T13M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.763 239476 chr2 73800415 73800415 G C rs201028172 ALMS1 Nonsynonymous SNV R3803T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.8 239477 chrX 44120523 44120523 C T rs201560745 EFHC2 Nonsynonymous SNV R135Q 0.004 0.003 0 1 5 1 0.003 0 2 0 0 0 Uncertain significance 32 239478 chr19 9067739 9067739 G C rs192277439 MUC16 Synonymous SNV T6569T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.091 239479 chr1 53569119 53569119 G A rs760538869 SLC1A7 Nonsynonymous SNV A127V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.29 239480 chr15 63128236 63128236 G C TLN2 Nonsynonymous SNV K2446N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 239481 chr9 125288887 125288887 C T rs137935717 OR1N1 Nonsynonymous SNV R229H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 19.79 239482 chr1 54427995 54427995 C T rs35818146 LRRC42 Synonymous SNV L280L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.17 239483 chr1 54433353 54433353 G T rs35123335 LRRC42 Nonsynonymous SNV R343L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.5 239484 chr9 125316351 125316351 G A rs139561323 OR1N2 Synonymous SNV T287T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.27 239485 chr9 139879412 139879412 C T rs368086182 LCNL1 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 239486 chr9 140201615 140201615 G A rs558615597 EXD3 Synonymous SNV A806A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 239487 chr1 67148013 67148013 C T SGIP1 Nonsynonymous SNV P430S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 239488 chr2 9576411 9576411 C T rs144480741 CPSF3 Synonymous SNV H190H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.65 239489 chr8 124382159 124382164 TCATCA - rs757527760 ATAD2 D276_D277del 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 239490 chr2 97493930 97493930 C T rs200295176 CNNM3 Nonsynonymous SNV S547L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 239491 chr2 98844729 98844729 A G VWA3B Nonsynonymous SNV Q352R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 239492 chr15 69737358 69737358 A C rs748504424 KIF23 Nonsynonymous SNV E766A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 239493 chr3 101284025 101284025 A T TRMT10C Stop gain K134X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 239494 chr1 935211 935211 C T HES4 Nonsynonymous SNV G48E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.804 239495 chr19 12969229 12969229 C G MAST1 Nonsynonymous SNV I377M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 239496 chr19 13869786 13869786 G T rs142208784 CCDC130 Nonsynonymous SNV R72L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 239497 chr15 74564053 74564053 C T rs201603982 CCDC33 Nonsynonymous SNV R186W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 239498 chr19 14034570 14034570 G A rs753071087 CC2D1A Nonsynonymous SNV R629Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24 239499 chr1 1190745 1190745 G A rs3829743 UBE2J2 Synonymous SNV N154N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.254 239500 chr9 27055616 27055616 G A rs200923828 IFT74 Nonsynonymous SNV R448H 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 23 239501 chr1 74671462 74671462 A G rs943195384 FPGT Nonsynonymous SNV I590M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.643 239502 chr15 76196878 76196878 C T rs150157752 FBXO22 Nonsynonymous SNV H63Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 239503 chr1 89476699 89476699 T C rs377247959 GBP3 Nonsynonymous SNV E283G 0 0 0.01 2 0 0 0.005 3 0 0 1 1 23.1 239504 chr9 35075528 35075528 T A rs148808709 FANCG Nonsynonymous SNV H456L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24 239505 chr1 898511 898511 C A rs147826915 KLHL17 Synonymous SNV I355I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.7 239506 chr1 82456527 82456527 G A ADGRL2 Nonsynonymous SNV E1304K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 239507 chr1 91382455 91382455 C T rs142786693 ZNF644 Nonsynonymous SNV R73Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 239508 chr1 3390045 3390045 C T rs140335574 ARHGEF16 Nonsynonymous SNV L422F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 239509 chr15 83698968 83698968 G A rs116584930 BTBD1 Synonymous SNV L325L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 239510 chr1 3551739 3551739 C T rs115982402 WRAP73 Synonymous SNV G241G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.49 239511 chr1 94374626 94374626 G C GCLM Nonsynonymous SNV R32G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 239512 chr9 5756369 5756369 A G rs753403564 RIC1 Nonsynonymous SNV D580G 0.001 0 0 0 1 0 0 0 0 0 0 0 22 239513 chr1 89729465 89729466 TC - rs575024461 GBP5 E439Rfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 239514 chr15 89007949 89007949 G A rs141301857 MRPL46 Synonymous SNV L192L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.904 239515 chr9 74313012 74313012 G A CEMIP2 Synonymous SNV D1099D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 239516 chr1 9064814 9064814 G C rs116662431 SLC2A7 Nonsynonymous SNV I439M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.679 239517 chr19 18245656 18245656 C T rs369144029 MAST3 Synonymous SNV P549P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.89 239518 chr15 90167006 90167006 G T rs200586089 TICRR Nonsynonymous SNV E1154D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.153 239519 chr1 9633433 9633433 A C SLC25A33 Nonsynonymous SNV I149L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 239520 chr1 94474407 94474407 T C rs974288771 ABCA4 Nonsynonymous SNV E1912G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 239521 chr9 139879216 139879216 C T rs199948531 LCNL1 Nonsynonymous SNV A83V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.8 239522 chr20 168723 168723 G T rs374917383 DEFB128 Nonsynonymous SNV T29K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 239523 chr20 18296011 18296011 G A ZNF133 Synonymous SNV R153R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.513 239524 chr1 12175684 12175684 G A rs199906292 TNFRSF8 Nonsynonymous SNV E171K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 239525 chr15 91509814 91509814 T G rs1041828773 PRC1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 239526 chr15 92647711 92647711 C T rs148565039 SLCO3A1 Synonymous SNV N316N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.59 239527 chr9 95887312 95887312 C T rs755546683 NINJ1 Nonsynonymous SNV A113T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 239528 chr15 94910954 94910954 C T rs35416438 MCTP2 Synonymous SNV S62S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.75 239529 chr9 98229390 98229390 C T rs201541845 LOC100507346 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 4.655 239530 chr19 24116156 24116156 C A rs746071554 ZNF726 Nonsynonymous SNV T413N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.95 239531 chr19 24116157 24116157 T G rs770248032 ZNF726 Synonymous SNV T413T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.445 239532 chr1 16256142 16256142 T C rs184914524 SPEN Nonsynonymous SNV L1136P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 239533 chr16 1143885 1143885 C T C1QTNF8 Synonymous SNV E125E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.452 239534 chr19 33409144 33409144 T C CEP89 Nonsynonymous SNV E457G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 239535 chrX 107978897 107978897 C T rs772712067 IRS4 Synonymous SNV A226A 0.002 0 0 0 2 0 0 0 1 0 0 0 16.65 239536 chr8 22034561 22034561 C T rs201380519 BMP1 Synonymous SNV H213H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 239537 chr20 30433190 30433190 G A rs770536761 FOXS1 Synonymous SNV F52F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.29 239538 chr20 3128237 3128237 G C rs145181106 FASTKD5 Nonsynonymous SNV L494V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 239539 chr3 130437346 130437346 G A rs375991665 PIK3R4 Nonsynonymous SNV R672C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 239540 chr1 17681163 17681163 G A rs772704328 PADI4 Nonsynonymous SNV G431R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 239541 chr19 35791267 35791267 C A MAG Synonymous SNV A285A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.452 239542 chr20 2443360 2443360 T C rs771983255 SNRPB Nonsynonymous SNV M203V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12 239543 chr19 35940737 35940737 C T FFAR2 Nonsynonymous SNV P41S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 239544 chr20 33004965 33004965 C T rs1007090684 ITCH Nonsynonymous SNV A173V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.052 239545 chr20 33298050 33298050 G C rs750147581 TP53INP2 Nonsynonymous SNV R201P 0 0 0 1 0 0 0.003 0 0 0 0 0 34 239546 chr20 25493542 25493542 G A rs201112687 NINL Synonymous SNV R126R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.02 239547 chr1 21071434 21071434 G C rs146223622 HP1BP3 Synonymous SNV A506A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.607 239548 chr19 36515463 36515463 C T rs147384278 CLIP3 Synonymous SNV A251A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.61 239549 chr20 30606899 30606899 G T CCM2L Nonsynonymous SNV W207L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 239550 chrX 149671615 149671615 G A rs186596666 MAMLD1 Synonymous SNV P679P 0.002 0 0 0 2 0 0 0 1 0 0 0 16.16 239551 chr20 30898944 30898944 G A rs775512060 KIF3B Nonsynonymous SNV R455Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 239552 chr19 37038340 37038340 C A rs369693393 ZNF529 Nonsynonymous SNV A356S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.95 239553 chrX 151123845 151123845 G A rs769047265 GABRE Nonsynonymous SNV R378C 0.002 0 0 0 2 0 0 0 1 0 0 0 25.4 239554 chr1 22447788 22447788 C T rs760572908 WNT4 Synonymous SNV S168S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 239555 chr20 31812208 31812208 C A rs113989803 BPIFA3 Stop gain S109X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 239556 chr20 31813012 31813012 C A rs116819024 BPIFA3 Stop gain C129X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 239557 chr20 3251124 3251124 G A rs756037652 C20orf194 Nonsynonymous SNV A912V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 239558 chr16 23080723 23080723 C T USP31 Synonymous SNV E901E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 239559 chrX 24024739 24024739 C A KLHL15 Synonymous SNV L24L 0.002 0 0 2 2 0 0.005 0 1 0 0 1 12.26 239560 chr20 35060511 35060511 G A rs200570655 DLGAP4 Nonsynonymous SNV A131T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 239561 chr20 40084590 40084590 C T rs774453443 CHD6 Synonymous SNV E953E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.78 239562 chr20 36488723 36488723 A G CTNNBL1 Nonsynonymous SNV K527R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 239563 chr11 18537704 18537704 G A rs374013951 TSG101 Synonymous SNV N45N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.59 239564 chr1 26107494 26107494 T A rs369268605 MAN1C1 Nonsynonymous SNV L514Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 239565 chr20 368735 368735 C T rs56092421 TRIB3 Synonymous SNV T27T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.49 239566 chr20 39609425 39609427 CCT - LOC100128988 0 0 0.003 0 0 0 0 1 0 0 0 0 239567 chr20 43129822 43129822 C T rs146451210 SERINC3 Nonsynonymous SNV R392Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 239568 chr1 27106482 27106482 T C rs374525953 ARID1A Synonymous SNV Y2031Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 239569 chr1 27685959 27685959 C T rs369175337 MAP3K6 Nonsynonymous SNV G784S 0.001 0 0 0 1 0 0 0 0 0 0 0 35 239570 chr1 27692824 27692824 G A rs757649927 MAP3K6 Nonsynonymous SNV P89S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 239571 chr16 30536818 30536818 G A rs376531475 ZNF768 Nonsynonymous SNV P215S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 239572 chr20 44839166 44839166 C T rs200925211 CDH22 Nonsynonymous SNV V356M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 239573 chr1 29644339 29644339 G A rs374166275 PTPRU Nonsynonymous SNV R1195H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 239574 chr16 3108953 3108953 C T rs201420558 MMP25 Nonsynonymous SNV P515S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 239575 chr20 47989770 47989770 T C rs756982426 KCNB1 Nonsynonymous SNV K776R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.989 239576 chr11 24518837 24518837 G A rs148514687 LUZP2 Synonymous SNV L16L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.14 239577 chr1 34123652 34123652 T C rs773454288 CSMD2 Synonymous SNV T1447T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.091 239578 chr11 280403 280403 G C rs141755467 NLRP6 Nonsynonymous SNV K223N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.6 239579 chr20 57430118 57430118 C G rs74897360 GNAS Nonsynonymous SNV R600G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 13.83 239580 chr20 57876663 57876663 C A rs142051051 EDN3 Nonsynonymous SNV A84E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 239581 chr20 60348151 60348151 G A CDH4 Synonymous SNV G126G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.871 239582 chr16 4786618 4786618 C T rs138915039 C16orf71 Nonsynonymous SNV P35S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 239583 chr20 60774277 60774277 G A rs768368919 MTG2 Nonsynonymous SNV G264R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 239584 chr8 97263180 97263180 T G rs112357919 MTERF3 Nonsynonymous SNV K211Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 239585 chr8 97343279 97343279 C A rs7835798 PTDSS1 Nonsynonymous SNV T277N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.2 239586 chr16 4933917 4933917 C T rs202076806 PPL Nonsynonymous SNV R1580Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 239587 chr19 45024764 45024764 G A rs201619802 CEACAM20 Synonymous SNV V258V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.82 239588 chr20 60913353 60913353 A C LAMA5 Nonsynonymous SNV V564G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 239589 chr1 5935109 5935109 C T rs772593921 NPHP4 Nonsynonymous SNV A445T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 239590 chr1 6279316 6279316 C T rs200882245 RNF207 Nonsynonymous SNV P585L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 239591 chr20 62196908 62196908 G A rs767273485 HELZ2 Synonymous SNV V520V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.1 239592 chr9 113149673 113149673 C A SVEP1 Stop gain G3318X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 239593 chr9 113245956 113245956 T C SVEP1 Nonsynonymous SNV I650V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 239594 chr19 49167957 49167957 G A rs371501834 NTN5 Synonymous SNV G233G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.21 239595 chr21 17443706 17443706 A T rs547235305 MIR99AHG 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 239596 chr21 17222178 17222178 C G USP25 Nonsynonymous SNV A807G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 239597 chr21 18976532 18976532 G A rs770143908 BTG3 Nonsynonymous SNV P125L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 239598 chr1 11159772 11159772 A T rs183414871 EXOSC10-AS1 0.002 0.005 0.007 1 2 2 0.003 2 0 0 0 0 7.549 239599 chrX 69478973 69478973 C T rs1152186 P2RY4 Nonsynonymous SNV V168M 0.001 0.01 0 0 1 4 0 0 0 2 0 0 21.6 239600 chrX 70320831 70320831 G A rs201044486 FOXO4 Nonsynonymous SNV D251N 0.001 0.01 0 0 1 4 0 0 0 2 0 0 25.5 239601 chrX 75648697 75648697 G A rs146995693 MAGEE1 Nonsynonymous SNV C125Y 0.001 0.01 0.007 0 1 4 0 2 0 2 1 0 Benign 0.013 239602 chr16 70398533 70398533 A G rs61755352 DDX19A Synonymous SNV S127S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.978 239603 chr9 123476274 123476274 G A rs764032008 MEGF9 Synonymous SNV G121G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.904 239604 chr1 62267311 62267311 A G rs145977945 PATJ Synonymous SNV P473P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.483 239605 chr19 50216107 50216107 G A rs766484159 CPT1C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 239606 chr1 15956959 15956959 C G rs151141668 DDI2 Synonymous SNV A136A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.11 239607 chr16 72923830 72923830 C T rs746902281 ZFHX3 Nonsynonymous SNV G169D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 239608 chr16 75148097 75148097 G A LDHD Nonsynonymous SNV A222V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 239609 chr16 75682005 75682005 G C rs766032372 TERF2IP Synonymous SNV S75S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 239610 chr1 18809548 18809548 C G rs148144311 KLHDC7A Synonymous SNV A691A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.479 239611 chr1 79403661 79403661 G A rs535245969 ADGRL4 Synonymous SNV T197T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.48 239612 chr21 41719841 41719841 C G rs761507914 DSCAM Nonsynonymous SNV K322N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.6 239613 chr3 43621951 43621951 G A rs34829628 ANO10 Synonymous SNV L51L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.06 239614 chr21 44338885 44338885 C G ERVH48-1 Nonsynonymous SNV E78Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.381 239615 chr21 42830468 42830468 G A rs140570072 MX1 Nonsynonymous SNV R591H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 239616 chr1 85331691 85331691 G T LPAR3 Nonsynonymous SNV T38K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 239617 chr1 20009745 20009745 G A rs200750033 TMCO4 Nonsynonymous SNV P565S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.17 239618 chr21 45540298 45540298 G A rs765751883 LOC102724159, PWP2 Nonsynonymous SNV G420S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 239619 chr21 45732905 45732905 A G rs150801043 PFKL Nonsynonymous SNV I158V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 239620 chr19 52570236 52570236 C T rs773921003 ZNF841 Nonsynonymous SNV R184Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.571 239621 chr21 46841119 46841119 C T rs13050115 COL18A1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.354 239622 chr21 46876223 46876223 G A rs899510965 COL18A1 Nonsynonymous SNV R260H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.534 239623 chr16 84482262 84482262 G A rs376849149 ATP2C2 Nonsynonymous SNV E392K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 239624 chr1 23191446 23191446 C T rs561374198 EPHB2 Synonymous SNV R348R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.9 239625 chr3 47453380 47453380 C A PTPN23 Synonymous SNV R1206R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.95 239626 chr16 86588338 86588338 G A rs780433157 MTHFSD Synonymous SNV D12D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.65 239627 chr3 48730590 48730590 T C rs138179394 IP6K2 Synonymous SNV E75E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 239628 chr1 26380423 26380423 C A rs145591989 TRIM63 Nonsynonymous SNV D338Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 239629 chr3 49949366 49949366 G A MON1A Nonsynonymous SNV S166F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 239630 chr21 47406461 47406461 T C COL6A1 Synonymous SNV N150N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.842 239631 chr1 27092742 27092742 G A rs566622718 ARID1A Synonymous SNV G921G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.488 239632 chr3 51929115 51929115 T G rs201302777 IQCF1 Nonsynonymous SNV M137L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 239633 chr16 88780820 88780820 G A rs61730419 CTU2 Nonsynonymous SNV R289Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.47 239634 chr1 110031015 110031015 C T rs773402570 ATXN7L2 Synonymous SNV C269C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 239635 chr9 139273196 139273196 G A rs763764154 SNAPC4 Nonsynonymous SNV A1028V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 239636 chr16 88958785 88958785 T C rs148437643 CBFA2T3 Nonsynonymous SNV Q77R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 239637 chr1 33945026 33945026 G A rs202112104 ZSCAN20 Nonsynonymous SNV G46D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.918 239638 chr22 24037626 24037628 CTG - rs144531389 GUSBP11 0 0 0.01 0 0 0 0 3 0 0 1 0 239639 chr10 133954065 133954065 G A rs752161665 JAKMIP3 Synonymous SNV P413P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.706 239640 chr19 56028795 56028795 C A SSC5D Nonsynonymous SNV T1051N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.17 239641 chr17 10298626 10298626 C T rs61730807 MYH8 Nonsynonymous SNV V1596I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 14.67 239642 chr22 21800714 21800714 C T rs749751090 HIC2 Synonymous SNV C510C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 239643 chr17 12901819 12901819 C T ELAC2 Nonsynonymous SNV R437K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.414 239644 chr3 72937456 72937456 C G rs566749857 GXYLT2 Synonymous SNV S24S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.84 239645 chr19 57641621 57641621 C T rs112352747 USP29 Synonymous SNV N526N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.812 239646 chr22 32616986 32616986 A T rs760133865 SLC5A4 Synonymous SNV L563L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 239647 chr9 21141323 21141323 T C rs139776106 IFNW1 Nonsynonymous SNV M83V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 11.46 239648 chr17 18205278 18205278 C A rs775029558 TOP3A Nonsynonymous SNV G184V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 239649 chr1 44605045 44605045 T G KLF18 Synonymous SNV G753G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.1 239650 chr19 59074062 59074062 G A MZF1 Synonymous SNV L528L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.735 239651 chr4 100572339 100572339 T C rs543085623 C4orf54 Nonsynonymous SNV Q1156R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 239652 chr22 39120358 39120358 G A rs376086055 GTPBP1 Nonsynonymous SNV V339M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 239653 chr4 1018269 1018269 G A rs532080560 FGFRL1 Nonsynonymous SNV D297N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 239654 chr20 826216 826218 GAG - rs774840303 FAM110A E258del 0 0 0 1 0 0 0.003 0 0 0 0 0 239655 chr22 31621770 31621770 G A LIMK2 Synonymous SNV R27R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.777 239656 chr1 153995642 153995642 C G NUP210L Nonsynonymous SNV E1418D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 239657 chr22 33777944 33777944 G A rs144216539 LARGE1 Synonymous SNV T364T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.62 239658 chr20 2376049 2376049 G A rs757415452 TGM6 Nonsynonymous SNV E131K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.4 239659 chr20 2775185 2775185 G A rs144417990 CPXM1 Nonsynonymous SNV T580M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 239660 chr17 2278822 2278822 C - SGSM2 Q669Rfs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 239661 chr1 155258039 155258039 C T rs753181610 HCN3 Nonsynonymous SNV R704W 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 24.2 239662 chr17 2601855 2601855 G A rs372695831 CLUH Synonymous SNV T432T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 239663 chr22 45132680 45132680 G A rs149767702 PRR5 Synonymous SNV S145S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 239664 chr17 26108191 26108191 G A rs201758824 NOS2 Synonymous SNV T245T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 239665 chr1 54605322 54605322 - A CDCP2 Frameshift insertion M409Hfs*45 0 0.003 0 0 0 1 0 0 0 0 0 0 239666 chr22 38119272 38119272 C T rs144995033 TRIOBP Nonsynonymous SNV R237W 0 0 0 1 0 0 0.003 0 0 0 0 0 14.31 239667 chr22 50181307 50181307 G A rs1021297717 BRD1 Nonsynonymous SNV P858L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 239668 chr1 156641746 156641746 C G rs140652000 NES Nonsynonymous SNV R745T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 22.6 239669 chr1 156845315 156845315 C T rs202108805 NTRK1 Nonsynonymous SNV P447L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 239670 chr22 41918981 41918981 G A rs779185723 ACO2 Nonsynonymous SNV R429Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 239671 chr22 50962138 50962138 C T rs777327176 SCO2 Nonsynonymous SNV G235S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 239672 chr22 43565507 43565507 T C rs757433882 TTLL12 Nonsynonymous SNV Q548R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 239673 chr9 91978808 91978808 A T SEMA4D Nonsynonymous SNV V647D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 239674 chr9 95004492 95004492 A C rs747054053 IARS Nonsynonymous SNV L1041V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.7 239675 chr9 95228797 95228797 G A rs569274142 ASPN Synonymous SNV T147T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.818 239676 chr1 159409910 159409910 C T rs76241483 OR10J1 Nonsynonymous SNV T110I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.76 239677 chr2 101656793 101656793 C T rs772867470 TBC1D8 Synonymous SNV P294P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 239678 chr2 102959558 102959558 G A rs146105446 IL1RL1 Nonsynonymous SNV V132I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.761 239679 chr9 96429454 96429454 G A rs374331864 PHF2 Synonymous SNV S760S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.05 239680 chr20 30064558 30064558 C A REM1 Nonsynonymous SNV Q104K 0 0 0 1 0 0 0.003 0 0 0 0 0 21 239681 chr20 30533647 30533647 T C rs149510387 PDRG1 Nonsynonymous SNV D122G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 239682 chr1 162729634 162729634 C T rs141801107 DDR2 Synonymous SNV D240D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.68 239683 chr22 46835276 46835276 G A rs45551035 CELSR1 Nonsynonymous SNV R1406C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 239684 chrX 105199518 105199518 C T rs201279660 NRK Nonsynonymous SNV R1559C 0.002 0 0 0 2 0 0 0 1 0 0 0 25.9 239685 chrX 10535359 10535359 C T rs143416243 MID1 Nonsynonymous SNV V77I 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 25.2 239686 chrX 11139777 11139777 C T rs775880525 HCCS Synonymous SNV C218C 0.002 0 0 0 2 0 0 0 1 0 0 0 16.02 239687 chr1 82434893 82434893 C G ADGRL2 Nonsynonymous SNV T835R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 239688 chr1 167522911 167522911 G A CREG1 Nonsynonymous SNV A23V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.102 239689 chr20 37175023 37175023 A G RALGAPB Nonsynonymous SNV D951G 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 239690 chr1 171505241 171505241 C A rs138658625 PRRC2C Nonsynonymous SNV P704Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 239691 chr17 38907295 38907295 C T rs1052381980 KRT25 Nonsynonymous SNV G290R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 239692 chrX 138864841 138864841 T A rs149608378 ATP11C Nonsynonymous SNV D609V 0.002 0.005 0 0 2 2 0 0 1 1 0 0 22.8 239693 chrX 139586495 139586515 GCGGCCGCGGCAGCGGCGGCG - rs776775669 SOX3 A242_A248del 0.002 0 0 0 2 0 0 0 1 0 0 0 239694 chr1 90399515 90399515 C T LRRC8D Synonymous SNV A296A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 239695 chr1 91859656 91859656 C T rs202217676 HFM1 Nonsynonymous SNV R163Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.25 239696 chr1 92327034 92327034 T C rs147586574 TGFBR3 Nonsynonymous SNV T19A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 0.048 239697 chr2 102018907 102018907 C T rs200668088 RFX8 Nonsynonymous SNV M241I 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 22.6 239698 chrX 150869405 150869405 C A rs370678504 PRRG3 Nonsynonymous SNV A199E 0.002 0 0 0 2 0 0 0 1 0 0 0 27.7 239699 chr2 102855692 102855692 G A rs145527439 IL1RL2 Synonymous SNV T431T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.752 239700 chr20 44598172 44598172 G A rs979717225 ZNF335 Synonymous SNV S120S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.43 239701 chr1 176998869 176998869 C T rs61758727 ASTN1 Nonsynonymous SNV A341T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 239702 chr20 46291906 46291906 T G rs149155853 SULF2 Nonsynonymous SNV M760L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.211 239703 chr2 152236045 152236045 - A rs753982588 TNFAIP6 X278delinsX 0 0 0.003 0 0 0 0 1 0 0 0 0 239704 chr2 152483522 152483522 C T rs370053963 NEB Nonsynonymous SNV M3204I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 239705 chr2 112779846 112779846 C T MERTK Synonymous SNV G787G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.18 239706 chr2 113420573 113420573 A G rs151199405 SLC20A1 Nonsynonymous SNV I671V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 239707 chr1 109731769 109731769 A C KIAA1324 Nonsynonymous SNV E96A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 239708 chr1 185089203 185089203 A G rs143307217 TRMT1L Nonsynonymous SNV V561A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 239709 chr2 113541307 113541307 C G rs150033245 IL1A Nonsynonymous SNV C14S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 239710 chrX 37670051 37670051 A G CYBB Nonsynonymous SNV I532V 0.002 0 0 0 2 0 0 0 1 0 0 0 8.182 239711 chr17 40812220 40812220 G A rs750453423 TUBG2 Synonymous SNV R72R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.71 239712 chrX 38182131 38182131 G A rs143521661 RPGR Synonymous SNV A74A 0.003 0 0 0 4 0 0 0 2 0 0 0 Benign 1.64 239713 chr2 162081209 162081209 G T TANK Nonsynonymous SNV A158S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 239714 chr2 162361899 162361899 A G rs17243975 AHCTF1P1 0 0 0.02 0 0 0 0 6 0 0 0 0 1.327 239715 chr10 95148826 95148826 C T rs769883324 MYOF Synonymous SNV T501T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.85 239716 chr2 162362263 162362263 G A rs150535383 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 239717 chr2 163123826 163123826 C A rs74162090 IFIH1 Nonsynonymous SNV V988L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 32 239718 chr2 120439210 120439210 C T rs114786834 TMEM177 Nonsynonymous SNV R261C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 239719 chrX 49099589 49099589 G A rs369264021 CCDC22 Synonymous SNV S158S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 3.921 239720 chr10 96112156 96112156 C T rs752273305 NOC3L Nonsynonymous SNV R288Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.1 239721 chr10 97442457 97442457 G A rs140103426 TCTN3 Nonsynonymous SNV A320V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.2 239722 chr2 131102232 131102232 G A rs34815785 IMP4 Nonsynonymous SNV R48Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.23 239723 chr1 202097399 202097399 C A rs146419443 GPR37L1 Synonymous SNV T387T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 239724 chr4 3319630 3319630 A G RGS12 Nonsynonymous SNV K578R 0 0 0 1 0 0 0.003 0 0 0 0 0 23 239725 chr20 61340732 61340732 C T rs34257083 NTSR1 Nonsynonymous SNV T58I 0 0 0.007 4 0 0 0.01 2 0 0 0 0 Benign 27 239726 chr2 171570769 171570769 G A rs187247030 LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 9.601 239727 chr1 144916675 144916675 C T rs376326304 PDE4DIP Stop gain W723X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 239728 chr2 173855612 173855612 G A RAPGEF4 Synonymous SNV G263G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.7 239729 chr1 144930998 144930998 C T rs141727891 PDE4DIP Synonymous SNV T237T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.354 239730 chr2 152534230 152534230 A G rs201141958 NEB Nonsynonymous SNV I1208T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.73 239731 chr1 207103701 207103701 C T rs781672177 PIGR Nonsynonymous SNV V753M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.02 239732 chr1 151378273 151378273 G T rs982427900 POGZ Nonsynonymous SNV H985N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.051 239733 chr20 62221867 62221867 C G GMEB2 Nonsynonymous SNV V390L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.817 239734 chr1 212619249 212619249 C T rs150678715 NENF Synonymous SNV V140V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 239735 chr1 152636796 152636796 G C rs148290788 LCE2D Nonsynonymous SNV C72S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.296 239736 chr20 62657357 62657357 C T rs11553191 PRPF6 Synonymous SNV Y658Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.11 239737 chr21 17163899 17163899 C T rs61760220 USP25 Synonymous SNV N157N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.3 239738 chr6 39847095 39847095 G T rs767664729 DAAM2 Nonsynonymous SNV G563W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 239739 chr2 192701377 192701377 C T rs766471635 CAVIN2 Nonsynonymous SNV E184K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 239740 chr10 118633594 118633594 G C ENO4 Nonsynonymous SNV G408A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.24 239741 chr2 175289215 175289215 G A rs199860076 SCRN3 Synonymous SNV K303K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.42 239742 chr2 175622715 175622715 C T rs756593848 CHRNA1 Nonsynonymous SNV V90M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.45 239743 chr17 61619672 61619672 G T rs370740991 KCNH6 Synonymous SNV R675R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.325 239744 chr2 204324651 204324651 A G rs145877365 RAPH1 Synonymous SNV Y357Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.431 239745 chr11 108121636 108121636 A C rs202173660 ATM Nonsynonymous SNV K482Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.59 239746 chr17 63221481 63221481 G C rs768330480 RGS9 Nonsynonymous SNV C587S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 239747 chr17 649143 649143 G T rs201006353 GEMIN4 Nonsynonymous SNV L714I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 239748 chr10 128147749 128147749 C T rs142447656 C10orf90 Nonsynonymous SNV R586H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 239749 chr6 5086638 5086638 C T rs747852897 PPP1R3G Nonsynonymous SNV P307S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25 239750 chr2 185800917 185800917 C T rs758497479 ZNF804A Nonsynonymous SNV T265I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 239751 chr2 185803442 185803462 GCTGCAGCTGCTGCAGCTGCA - rs778162567 ZNF804A A1113_A1119del 0 0 0 1 0 0 0.003 0 0 0 0 0 239752 chr2 21233715 21233715 G A APOB Nonsynonymous SNV L2009F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 239753 chr21 45110194 45110194 T C rs61737068 RRP1B Nonsynonymous SNV L631P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.44 239754 chr2 190626338 190626338 A C OSGEPL1 Nonsynonymous SNV V21G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.969 239755 chr2 191524211 191524211 A T rs140537913 NAB1 Synonymous SNV S103S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.017 239756 chr1 166890573 166890573 C G rs201507661 ILDR2 Nonsynonymous SNV A419P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 239757 chr2 220362509 220362509 T C rs571432139 SPEGNB Synonymous SNV T168T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 239758 chr17 72365620 72365620 G A rs76896732 GPR142 Nonsynonymous SNV R86H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 239759 chr1 170967508 170967508 G A rs760386229 MROH9 Synonymous SNV L563L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.822 239760 chr1 174606602 174606602 A G rs61747504 RABGAP1L Synonymous SNV Q600Q 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 5.12 239761 chr1 245006460 245006460 C T rs141561272 COX20 Synonymous SNV N68N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.01 239762 chr11 12278417 12278417 G A rs61877173 MICAL2 Nonsynonymous SNV R767Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 239763 chr2 206305303 206305303 G A rs144091803 PARD3B Nonsynonymous SNV R915Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 239764 chr21 47831844 47831844 C T rs540929476 PCNT Nonsynonymous SNV R1835C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 239765 chr2 228159228 228159228 T G COL4A3 Nonsynonymous SNV D1120E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.776 239766 chr21 48022207 48022207 A C S100B Nonsynonymous SNV L41R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 239767 chr17 73738489 73738489 C T rs145644205 ITGB4 Nonsynonymous SNV L901F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.8 239768 chr17 73824940 73824940 C T rs776703437 UNC13D Nonsynonymous SNV G1027R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28 239769 chr22 18369986 18369986 T C rs181026231 MICAL3 Nonsynonymous SNV K673E 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 20.6 239770 chr17 73887318 73887318 C T rs9892938 TRIM65 Nonsynonymous SNV G344S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.15 239771 chr2 231740439 231740439 C T rs149190613 ITM2C Synonymous SNV L75L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.09 239772 chr1 181058963 181058963 T C rs777823916 IER5 Nonsynonymous SNV C309R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 239773 chr22 21350398 21350398 C T rs762991620 LZTR1 Nonsynonymous SNV S739L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 239774 chr12 125396266 125396266 - C rs757811605 UBC Frameshift insertion V685Cfs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 239775 chr1 183495841 183495841 G A rs778492165 SMG7 Synonymous SNV K99K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 239776 chr1 185959505 185959505 G A rs762631011 HMCN1 Nonsynonymous SNV V1103M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 239777 chr10 43977270 43977270 C A ZNF487 Nonsynonymous SNV T179N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 239778 chr17 74733168 74733168 G A rs61742084 SRSF2 Synonymous SNV T25T 0.004 0 0 0 5 0 0 0 0 0 0 0 11.68 239779 chr17 74772548 74772548 C T rs78943901 MFSD11 Synonymous SNV T318T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.84 239780 chr10 45956757 45956757 G A MARCHF8 Synonymous SNV I115I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 239781 chr22 22892686 22892686 T C rs763485169 PRAME Nonsynonymous SNV N123D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 239782 chr2 238233441 238233441 T C COL6A3 Synonymous SNV G2563G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 239783 chr2 219222804 219222804 G A CATIP Nonsynonymous SNV D133N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 239784 chr17 76488773 76488773 G A rs377510490 DNAH17 Synonymous SNV A2161A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 239785 chr11 128844811 128844811 G A rs527740214 ARHGAP32 Nonsynonymous SNV R398C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 239786 chr2 241865240 241865240 G A rs142405642 CROCC2 Synonymous SNV T196T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.917 239787 chr22 29876355 29876355 G A rs1000986394 NEFH Nonsynonymous SNV G35D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 239788 chr22 29876356 29876356 C A rs763701632 NEFH Synonymous SNV G35G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 239789 chr22 30766535 30766535 T C rs140214029 CCDC157 Nonsynonymous SNV I214T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.628 239790 chr17 78064145 78064145 A C rs74672482 CCDC40 Synonymous SNV R1014R 0.002 0 0 0 2 0 0 0 1 0 0 0 0.258 239791 chr10 55780122 55780122 C T rs142512524 PCDH15 Nonsynonymous SNV V790M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.1 239792 chr2 21232986 21232986 C T rs758442604 APOB Nonsynonymous SNV V2252M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11 239793 chr2 25258397 25258397 T C rs10445939 DNAJC27-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 239794 chr2 27277659 27277659 G A rs200002074 AGBL5 Nonsynonymous SNV R238H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 239795 chr11 18955679 18955679 A G rs748158634 MRGPRX1 Nonsynonymous SNV I218T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 239796 chr2 27445792 27445792 C T rs267599313 CAD Synonymous SNV V232V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.29 239797 chr2 26686413 26686413 C T rs756209139 OTOF Nonsynonymous SNV M1020I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 239798 chr2 231683326 231683326 C T rs143207616 CAB39 Synonymous SNV N311N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 239799 chr17 80153150 80153150 G A rs191938919 CCDC57 Nonsynonymous SNV R203W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 239800 chr2 28812878 28812878 C G rs751363350 PLB1 Nonsynonymous SNV P664A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 239801 chr2 32602786 32602786 T G rs370417433 BIRC6 Synonymous SNV T152T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.453 239802 chr1 214507613 214507613 C T rs367808431 SMYD2 Synonymous SNV L395L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.75 239803 chr2 33952995 33952995 C G rs77056394 MYADML 0 0 0.007 0 0 0 0 2 0 0 0 0 3.137 239804 chr2 37208734 37208734 C T rs142274487 HEATR5B Nonsynonymous SNV V2039I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 239805 chr22 40417823 40417823 C T rs371478429 FAM83F Nonsynonymous SNV R437C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 239806 chr7 116918397 116918397 G A rs148046128 WNT2 Nonsynonymous SNV R299W 0.007 0.003 0.003 1 8 1 0.003 1 0 0 0 0 33 239807 chr12 48442741 48442741 T C rs541773271 SENP1 Nonsynonymous SNV I528V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 239808 chr10 79759751 79759751 C T rs142834115 POLR3A Synonymous SNV T868T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.34 239809 chr2 42990087 42990087 G A rs79735204 OXER1 Synonymous SNV G411G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.801 239810 chr2 42990680 42990680 C T rs199695846 OXER1 Nonsynonymous SNV G214R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 239811 chr2 61019359 61019359 T A PAPOLG Nonsynonymous SNV D538E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 239812 chr2 241722019 241722019 G A rs781227878 KIF1A Synonymous SNV S290S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.03 239813 chr18 224148 224148 G A rs947264802 THOC1 Nonsynonymous SNV R414W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 239814 chr2 242402786 242402786 C T FARP2 Nonsynonymous SNV P572S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 239815 chr2 71159903 71159903 G A VAX2 Nonsynonymous SNV V148I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 239816 chr22 47433074 47433074 C T rs781476335 TBC1D22A Nonsynonymous SNV R359C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 239817 chr2 71838708 71838708 C A rs976126934 DYSF Nonsynonymous SNV N1359K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 239818 chr2 74328317 74328317 G A rs200199642 TET3 Nonsynonymous SNV V1375I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 239819 chr10 98742892 98742892 C T LCOR Nonsynonymous SNV P892L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.21 239820 chr2 84896579 84896579 A G rs759289250 DNAH6 Nonsynonymous SNV K2084R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.21 239821 chr7 141921604 141921604 G A rs761580802 MGAM2 Synonymous SNV T2431T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 8.094 239822 chr18 46448087 46448087 C T rs1044271651 SMAD7 Synonymous SNV K124K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.972 239823 chr5 171626488 171626488 G A rs200030817 EFCAB9 Nonsynonymous SNV D80N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.305 239824 chr2 29297042 29297042 C A PCARE Nonsynonymous SNV R29L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.956 239825 chr2 97527057 97527057 A T rs201854875 SEMA4C Nonsynonymous SNV F603Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.489 239826 chr2 29551218 29551218 C T ALK Nonsynonymous SNV C471Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 239827 chr12 53709178 53709178 C T AAAS Nonsynonymous SNV A114T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.92 239828 chr12 54676365 54676365 G A rs769315031 HNRNPA1 Nonsynonymous SNV G198S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 239829 chr5 177658416 177658416 A G PHYKPL Synonymous SNV N15N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.481 239830 chr2 95976190 95976190 C T rs373425399 KCNIP3 Nonsynonymous SNV P35S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 239831 chr2 40657208 40657208 A G rs369628597 SLC8A1 Synonymous SNV F71F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.276 239832 chrX 49087706 49087706 G T rs371293383 CACNA1F Synonymous SNV I113I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.687 239833 chr3 111604140 111604140 C T PHLDB2 Stop gain Q406X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 239834 chrX 55478850 55478850 G A rs759482870 MAGEH1 Nonsynonymous SNV A15T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 239835 chr2 99439044 99439044 G A rs771962678 KIAA1211L Synonymous SNV G564G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 239836 chr2 44586636 44586636 C A rs199854790 PREPL Nonsynonymous SNV K73N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23 239837 chr18 641471 641471 G A CLUL1 Nonsynonymous SNV G380E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 239838 chr3 113380166 113380166 C T rs377451529 USF3 Synonymous SNV P121P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.65 239839 chr7 15725804 15725806 TGG - MEOX2 H80del 0.002 0 0 0 2 0 0 0 0 0 0 0 239840 chr3 118949025 118949029 GATTG - B4GALT4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 239841 chr3 118949031 118949031 G - B4GALT4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 239842 chr5 2755471 2755471 G A rs543401518 C5orf38 Nonsynonymous SNV G221D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.036 239843 chr2 54886356 54886356 C T rs199692018 SPTBN1 Synonymous SNV P2090P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.19 239844 chr11 5080576 5080576 G T rs201001738 OR52E2 Synonymous SNV I94I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 239845 chr5 32088191 32088191 C T rs141823346 PDZD2 Nonsynonymous SNV P1546L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.74 239846 chr3 121412702 121412702 G A rs56162367 GOLGB1 Nonsynonymous SNV A2143V 0.005 0.003 0.014 2 6 1 0.005 4 0 0 0 0 24 239847 chr2 109067548 109067548 A G rs199533705 GCC2 Nonsynonymous SNV K43R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 239848 chr2 61333761 61333761 - A KIAA1841 Frameshift insertion T380Nfs*40 0 0 0 1 0 0 0.003 0 0 0 0 0 239849 chr2 61344623 61344623 G A rs759573468 KIAA1841 Synonymous SNV K483K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.03 239850 chrX 114874786 114874786 C T rs137917062 PLS3 Nonsynonymous SNV R320W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 239851 chr19 1000490 1000490 G A rs530938555 GRIN3B Synonymous SNV G18G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.616 239852 chr2 121726323 121726323 G C GLI2 Nonsynonymous SNV R101P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 239853 chrX 132670290 132670290 C T rs767097459 GPC3 Synonymous SNV A481A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.33 239854 chrX 134125243 134125243 G A rs781564498 SMIM10 Nonsynonymous SNV G40S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.228 239855 chr3 127387397 127387397 C T rs765022325 PODXL2 Synonymous SNV S440S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 239856 chr2 128047803 128047803 T C rs775263112 ERCC3 Nonsynonymous SNV N173S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 239857 chr19 10224523 10224523 C T rs139458920 P2RY11, PPAN-P2RY11 Nonsynonymous SNV A519V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.67 239858 chr2 71795174 71795174 C A rs752223785 DYSF Nonsynonymous SNV Q855K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 239859 chr2 25498374 25498374 T C rs779804580 DNMT3A Nonsynonymous SNV M163V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.44 239860 chr3 12983212 12983212 C T rs372159791 IQSEC1 Synonymous SNV P59P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 239861 chr2 26663347 26663347 C T rs149344139 DRC1 Synonymous SNV S330S 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Likely benign 14.21 239862 chrX 151092675 151092675 T G MAGEA4 Nonsynonymous SNV V180G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 239863 chr2 143742696 143742696 T C rs376794557 KYNU Nonsynonymous SNV V258A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 239864 chrX 153175200 153175200 G A rs374821227 ARHGAP4 Synonymous SNV P803P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.758 239865 chr7 44163117 44163117 C G rs909249395 POLD2 Synonymous SNV A14A 0.005 0.008 0 1 6 3 0.003 0 0 0 0 0 14.22 239866 chrX 153220928 153220928 C T HCFC1 Synonymous SNV V974V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.87 239867 chr3 13670755 13670755 C T rs370876078 FBLN2 Synonymous SNV A888A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 239868 chr19 14048757 14048757 G A rs149482400 PODNL1 Synonymous SNV D27D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.163 239869 chr2 33540231 33540231 C T rs375695717 LTBP1 Nonsynonymous SNV P883S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 239870 chr2 96961258 96961258 T G SNRNP200 Nonsynonymous SNV T604P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 239871 chr2 97315989 97315989 C T rs377426781 FER1L5 Nonsynonymous SNV A156V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.047 239872 chr12 96381983 96381983 - A rs529944094 HAL Frameshift insertion L89Ffs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 239873 chr2 43787426 43787426 T C rs769836348 THADA Nonsynonymous SNV I804V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.049 239874 chr2 169787278 169787278 A G ABCB11 Nonsynonymous SNV I1103T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.1 239875 chr3 155481704 155481704 C T rs374247931 C3orf33 Nonsynonymous SNV G163R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.514 239876 chr2 48030669 48030669 C T rs376243329 MSH6 Nonsynonymous SNV R965C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 239877 chr3 108214631 108214631 C T rs201981854 MYH15 Nonsynonymous SNV R256H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 239878 chr11 125864831 125864831 T C rs772521968 CDON Nonsynonymous SNV I827V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 239879 chr3 108626995 108626995 A C rs774254004 GUCA1C Nonsynonymous SNV C182G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 239880 chr2 171371468 171371468 C T rs191454380 MYO3B Synonymous SNV P1109P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 239881 chr19 16060352 16060352 T C rs147935606 OR10H4 Nonsynonymous SNV F179L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 239882 chr3 164908238 164908238 T C rs138378955 SLITRK3 Synonymous SNV L127L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.004 239883 chr3 170204131 170204131 G C rs190070175 SLC7A14 Nonsynonymous SNV F262L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 239884 chr13 111340111 111340111 A G rs759194567 CARS2 Synonymous SNV I176I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.5 239885 chr3 182988623 182988623 A G B3GNT5 Nonsynonymous SNV K346R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 239886 chr19 17581433 17581433 G A rs755169869 SLC27A1 Synonymous SNV A28A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.319 239887 chr2 179636164 179636164 G A rs144247127 TTN Synonymous SNV T2584T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 239888 chr2 73675923 73675923 C T rs200827630 ALMS1 Nonsynonymous SNV P756S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.6 239889 chr3 186281991 186281991 C T rs747483253 TBCCD1 Nonsynonymous SNV R43Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 239890 chr19 18543953 18543953 C T rs748671816 SSBP4 Synonymous SNV L285L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.445 239891 chr10 124214483 124214483 C A rs1038924810 ARMS2 Nonsynonymous SNV F80L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 239892 chr3 194309366 194309366 C T rs746122825 TMEM44 Stop gain W393X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 239893 chr2 88405951 88405951 C T rs747794822 SMYD1 Synonymous SNV Y350Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 239894 chr19 2222006 2222006 C T rs774067551 DOT1L Synonymous SNV S946S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 239895 chr2 88485575 88485575 T C THNSL2 Nonsynonymous SNV M463T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.313 239896 chr6 116691276 116691278 AGG - LOC100287467 0 0 0 1 0 0 0.003 0 0 0 0 0 239897 chr3 195515769 195515769 G T rs772681112 MUC4 Synonymous SNV P894P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.399 239898 chr2 97465375 97465375 G A rs373899399 CNNM4 Synonymous SNV S646S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.36 239899 chr3 126730840 126730840 C - PLXNA1 P718Qfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 239900 chr6 117250084 117250084 C T rs201522681 RFX6 Nonsynonymous SNV S854L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 239901 chr6 123126106 123126106 T G rs111976561 SMPDL3A Nonsynonymous SNV I133S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.106 239902 chr3 21447735 21447735 C T rs138058311 VENTXP7 0 0 0.007 0 0 0 0 2 0 0 0 0 5.847 239903 chr2 203155896 203155896 A C rs147158311 NOP58 Nonsynonymous SNV E228A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 239904 chr3 33174069 33174069 C T rs1011445335 CRTAP Synonymous SNV A315A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 239905 chr19 35801013 35801013 G A rs202083530 MAG Nonsynonymous SNV A465T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 239906 chr2 211471498 211471498 C T rs143913650 CPS1 Synonymous SNV A675A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.76 239907 chr10 19498447 19498447 C T rs917656379 MALRD1 Synonymous SNV F943F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 239908 chr3 43593077 43593077 T G rs199995786 ANO10 Nonsynonymous SNV I558L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.743 239909 chr2 219503435 219503435 G C rs770886397 ZNF142 Nonsynonymous SNV A1564G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 239910 chr11 6579437 6579437 C T rs748289314 DNHD1 Nonsynonymous SNV T2971I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 239911 chr6 152737573 152737573 C T rs149146258 SYNE1 Nonsynonymous SNV R2007K 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.86 239912 chr2 220283627 220283627 C A DES Nonsynonymous SNV P148Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 239913 chr11 46903348 46903348 C A LRP4 Nonsynonymous SNV G907W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 239914 chr11 67177175 67177175 C - rs768392133 TBC1D10C R332Gfs*121 0.001 0 0 0 1 0 0 0 0 0 0 0 239915 chr2 220471854 220471854 C T rs369050835 STK11IP Nonsynonymous SNV P405L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 239916 chr3 47361228 47361228 T G KLHL18 Nonsynonymous SNV M72R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 239917 chr2 159523065 159523065 G A rs746429083 PKP4 Synonymous SNV K906K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 239918 chr2 228855801 228855801 C T rs749321237 SPHKAP Nonsynonymous SNV R1596Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 239919 chr3 49848477 49848477 A G UBA7 Synonymous SNV D390D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.917 239920 chr3 172163128 172163128 G C rs145560801 GHSR Synonymous SNV S308S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.28 239921 chr6 168462625 168462625 C T rs111259626 FRMD1 Nonsynonymous SNV A235T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.41 239922 chr19 42409930 42409930 C T ARHGEF1 Synonymous SNV L752L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.92 239923 chr3 183882141 183882141 G C DVL3 Synonymous SNV T106T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.945 239924 chr3 183951435 183951435 G A VWA5B2 Nonsynonymous SNV R201Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 239925 chr6 25653678 25653678 G T rs146743002 SCGN Nonsynonymous SNV D51Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 239926 chr19 44377564 44377564 C T rs753020979 ZNF404 Nonsynonymous SNV V265M 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 23.5 239927 chr3 66550643 66550643 G A rs754762977 LRIG1 Synonymous SNV P63P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 239928 chr6 26247056 26247056 G A rs139325038 H4C7 Synonymous SNV L50L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.453 239929 chr3 73433400 73433400 T G rs200132960 PDZRN3 Nonsynonymous SNV I471L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.749 239930 chr2 179400418 179400418 A C rs774270109 TTN Nonsynonymous SNV Y24577D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.52 239931 chr6 28402381 28402381 C T rs61730236 ZSCAN23 Nonsynonymous SNV R344Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 239932 chr10 69682733 69682733 T C rs201499570 HERC4 Synonymous SNV K780K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 1.947 239933 chr4 100480347 100480347 T A rs140061690 TRMT10A Nonsynonymous SNV K50I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 27.4 239934 chr10 71392701 71392701 T A rs145356439 FAM241B Nonsynonymous SNV H84Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.13 239935 chr4 103579045 103579045 G A rs763576266 MANBA Nonsynonymous SNV R500C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 239936 chr6 38548062 38548062 G A rs183919850 BTBD9 Synonymous SNV I263I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.86 239937 chr11 94310564 94310564 G A PIWIL4 Nonsynonymous SNV R140K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 239938 chr2 186665826 186665826 C T rs748883565 FSIP2 Synonymous SNV N3931N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.67 239939 chr19 48260368 48260368 G C rs987296064 NOP53-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.881 239940 chr19 48832635 48832635 A T rs779411673 EMP3 Nonsynonymous SNV M70L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 239941 chr4 122765152 122765152 T C rs111442398 BBS7 Nonsynonymous SNV D412G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 239942 chr8 41566470 41566470 G A rs144904116 ANK1 Synonymous SNV I608I 0.003 0.008 0 0 4 3 0 0 0 0 0 0 Uncertain significance 15.4 239943 chr4 125631226 125631226 T C rs146282193 ANKRD50 Synonymous SNV L147L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 239944 chr3 27758730 27758730 T C rs374923878 EOMES Nonsynonymous SNV N650S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 239945 chr2 207175057 207175057 T G ZDBF2 Synonymous SNV S1935S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.119 239946 chr4 126411061 126411061 T G rs945534823 FAT4 Nonsynonymous SNV F4363V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 239947 chr3 32398997 32398997 A G rs138508355 CMTM8 Nonsynonymous SNV M94V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.623 239948 chr12 109017668 109017668 G A rs377406736 SELPLG Nonsynonymous SNV T155M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.558 239949 chr3 37034184 37034184 G A rs4647203 EPM2AIP1 Synonymous SNV L129L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.274 239950 chr3 37092025 37092025 C T rs2020873 MLH1 Nonsynonymous SNV H360Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 29 239951 chr3 37323459 37323459 C T rs60600531 GOLGA4 Nonsynonymous SNV T58I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.3 239952 chr3 37368032 37368032 A G rs9840779 GOLGA4 Nonsynonymous SNV N1552S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 239953 chr3 37512606 37512606 C A rs17036383 ITGA9 Synonymous SNV T98T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.1 239954 chr3 37774225 37774225 A G rs142726080 ITGA9 Nonsynonymous SNV E697G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.2 239955 chr11 57089266 57089266 C T rs148840217 TNKS1BP1 Nonsynonymous SNV G32S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 239956 chr4 1397527 1397527 G A NKX1-1 Synonymous SNV H180H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.913 239957 chr4 140640527 140640527 G A rs61743025 MAML3 Nonsynonymous SNV P1123S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 239958 chr3 38462794 38462794 G A rs186566428 XYLB Nonsynonymous SNV A542T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.295 239959 chr4 15005508 15005508 A T CPEB2 Nonsynonymous SNV Q404L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 239960 chr2 219754948 219754948 G C WNT10A Nonsynonymous SNV D207H 0 0.003 0 0 0 1 0 0 0 0 0 0 27 239961 chr3 47459716 47459716 G A rs758618019 SCAP Synonymous SNV D530D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.71 239962 chr3 48694528 48694528 A C rs909084567 CELSR3 Synonymous SNV A1334A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.981 239963 chr2 225379385 225379385 T C rs202244378 CUL3 Synonymous SNV L95L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.994 239964 chr3 49831157 49831157 T C CDHR4 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 239965 chr3 49928845 49928845 C T rs775857732 MST1R Nonsynonymous SNV R1068H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 239966 chr3 49569270 49569270 C T rs776887760 DAG1 Synonymous SNV T442T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.241 239967 chr3 49700582 49700582 G A rs140013456 BSN Nonsynonymous SNV R3664Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 22.5 239968 chr3 50334513 50334513 G A rs782256777 NAA80 Nonsynonymous SNV R128W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 239969 chr3 52821071 52821071 C T rs892554181 ITIH1 Nonsynonymous SNV A327V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.869 239970 chr4 187454863 187454863 C T rs200192631 MTNR1A Nonsynonymous SNV V345I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.188 239971 chr4 187524750 187524750 C T rs199663111 FAT1 Nonsynonymous SNV A3644T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 239972 chr12 126068402 126068402 C T rs375674308 TMEM132B Synonymous SNV T433T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 239973 chr3 53783357 53783357 T C CACNA1D Nonsynonymous SNV V1126A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 239974 chr3 56207514 56207514 G A rs1036923249 ERC2 Nonsynonymous SNV P370L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 239975 chr4 23815739 23815739 T C PPARGC1A Nonsynonymous SNV Q329R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 239976 chr12 13208768 13208768 C T rs200550925 FAM234B Synonymous SNV F107F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 239977 chr19 55401039 55401039 C T rs754594457 FCAR Nonsynonymous SNV T117M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 239978 chr15 100252712 100252712 - CAG MEF2A Q352_P353insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 239979 chr3 62189315 62189315 G A rs534149617 PTPRG Nonsynonymous SNV E616K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.32 239980 chr2 241420464 241420464 C T rs374206181 ANKMY1 Nonsynonymous SNV R669H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 239981 chr3 89448530 89448530 C A rs144696297 EPHA3 Nonsynonymous SNV S498R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 239982 chr19 55824402 55824402 G A rs779463242 TMEM150B Nonsynonymous SNV S176L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 239983 chr12 2074822 2074822 T C rs148356523 DCP1B Nonsynonymous SNV T142A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.006 239984 chr19 55879605 55879605 G T rs1005633961 IL11 Nonsynonymous SNV D55E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.27 239985 chr3 9959637 9959637 T A rs761652113 IL17RC Nonsynonymous SNV I53N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.22 239986 chr3 99891196 99891196 G A rs761411275 CMSS1 Nonsynonymous SNV V188M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 239987 chr3 100378671 100378671 A G ADGRG7 Nonsynonymous SNV N360D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 239988 chr4 100356249 100356249 C T ADH7 Nonsynonymous SNV V5M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.074 239989 chr9 125512758 125512758 C T OR1L6 Nonsynonymous SNV P211L 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 27.8 239990 chr19 56459551 56459551 C T rs145469757 NLRP8 Stop gain R95X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 239991 chr9 126143987 126143987 C A DENND1A Synonymous SNV P929P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 8.998 239992 chr15 40099275 40099275 G A rs145962508 GPR176 Synonymous SNV V74V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.19 239993 chr19 579610 579610 G A rs2229662 BSG Nonsynonymous SNV V60M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.9 239994 chr3 14703201 14703201 C T rs145180886 CCDC174 Nonsynonymous SNV P158S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 239995 chr15 42178008 42178008 C T rs199807959 SPTBN5 Nonsynonymous SNV R482H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 239996 chr7 107572729 107572729 G A LAMB1 Nonsynonymous SNV P1428S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 239997 chr4 7043204 7043204 G A CCDC96 Synonymous SNV L488L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 239998 chr3 121208810 121208810 T C POLQ Nonsynonymous SNV K990E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 239999 chr4 71068511 71068511 G A rs772214289 ODAM Synonymous SNV A229A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.904 240000 chr3 121413239 121413239 T G rs75383249 GOLGB1 Nonsynonymous SNV E1964A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 240001 chr3 20216139 20216143 TTCTC - rs772727794 SGO1 E294Kfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 240002 chr3 121500697 121500697 G A rs11920543 IQCB1 Nonsynonymous SNV R302C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 29.4 240003 chr19 6156452 6156452 G A ACSBG2 Nonsynonymous SNV V133I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 240004 chr4 128724786 128724786 C G HSPA4L Synonymous SNV V181V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.13 240005 chr19 6432100 6432100 G A rs201491851 SLC25A41 Nonsynonymous SNV T108M 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 240006 chr11 1275341 1275341 C T rs760224555 MUC5B Synonymous SNV G5079G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 240007 chr3 125831633 125831633 G C rs150562024 ALDH1L1 Nonsynonymous SNV R624G 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.4 240008 chr7 128851986 128851986 G A rs751203355 SMO Synonymous SNV A686A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.15 240009 chr4 79793914 79793914 G A rs116781249 BMP2K Synonymous SNV Q585Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.871 240010 chr3 128890540 128890540 T C rs140065732 CNBP Nonsynonymous SNV T21A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.95 240011 chr19 7681486 7681486 G A rs748924614 CAMSAP3 Nonsynonymous SNV G1064R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 240012 chr4 153253766 153253766 C G FBXW7 Nonsynonymous SNV E205Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 240013 chr4 155156247 155156247 G A rs61738813 DCHS2 Nonsynonymous SNV T3186I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.22 240014 chr4 155157730 155157730 G A rs61746061 DCHS2 Nonsynonymous SNV R2692C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.449 240015 chr4 88536362 88536362 G A rs111205174 DSPP Nonsynonymous SNV G850S 0 0 0.007 0 0 0 0 2 0 0 1 0 11.75 240016 chr4 88536457 88536457 - AGTAGTGAC rs141186173 DSPP S885_N886insSDS 0 0 0.007 0 0 0 0 2 0 0 1 0 240017 chr15 57809043 57809043 C T rs200873553 CGNL1 Synonymous SNV R823R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 240018 chr11 9074370 9074370 C A SCUBE2 Nonsynonymous SNV G486V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 240019 chr3 137843240 137843240 C T rs200109290 A4GNT Nonsynonymous SNV G297R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 240020 chr3 142284987 142284987 G A rs28897763 ATR Nonsynonymous SNV H90Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 12.6 240021 chr4 99978948 99978948 A G rs369134352 METAP1 Nonsynonymous SNV I326V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 240022 chr4 169342940 169342940 C T rs375977740 DDX60L Nonsynonymous SNV G789R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 240023 chr5 10258341 10258341 G A rs201804455 CCT5 Nonsynonymous SNV G162S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 240024 chr7 142750163 142750163 C T OR6V1 Synonymous SNV H242H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 240025 chr15 68624754 68624754 A G rs752031111 ITGA11 Synonymous SNV D496D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.247 240026 chr3 155571460 155571460 T C rs74578336 SLC33A1 Synonymous SNV Q109Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.218 240027 chr3 155652807 155652807 T C rs139844459 GMPS Synonymous SNV F593F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.683 240028 chr3 167371187 167371187 C T WDR49 Synonymous SNV E9E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.425 240029 chr12 58131119 58131119 G A rs202224105 AGAP2 Nonsynonymous SNV A304V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.36 240030 chr19 9076628 9076628 A G rs202073283 MUC16 Synonymous SNV S3606S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.493 240031 chr12 58174308 58174308 - GACA rs776222085 EEF1AKMT3 Frameshift insertion E189Dfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 240032 chr12 113346540 113346540 G A OAS1 Nonsynonymous SNV G127D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 240033 chr19 9236904 9236904 G A rs143566600 OR7G3 Synonymous SNV C241C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.383 240034 chr3 183521930 183521930 C T rs192649831 YEATS2 Synonymous SNV D1246D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 240035 chr4 187510037 187510037 A C rs199927785 FAT1 Nonsynonymous SNV N4492K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 240036 chr3 183665190 183665190 G C rs28365020 ABCC5 Synonymous SNV T640T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.989 240037 chr9 4118596 4118596 G C GLIS3 Nonsynonymous SNV H139Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.46 240038 chr4 1986606 1986606 G A rs369737355 NELFA Nonsynonymous SNV T322M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 240039 chr3 183904370 183904370 A G ABCF3 Nonsynonymous SNV E50G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 240040 chr1 1022560 1022560 G A rs751051055 C1orf159 Nonsynonymous SNV P90L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 240041 chr4 2240724 2240724 C T rs139798656 HAUS3 Nonsynonymous SNV S319N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.841 240042 chr12 116457159 116457159 C T rs140586744 MED13L Synonymous SNV P293P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.46 240043 chr3 184429133 184429133 - TCCTCC rs34995413 MAGEF1 E158_D159insEE 0.002 0 0 0 2 0 0 0 0 0 0 0 240044 chr3 184429411 184429411 A C rs6770319 MAGEF1 Nonsynonymous SNV L67V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 240045 chr11 4615462 4615462 G C rs200837036 OR52I1 Nonsynonymous SNV C65S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 240046 chr1 109649661 109649661 C A rs201295988 C1orf194 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 240047 chr4 36286048 36286048 G A DTHD1 Nonsynonymous SNV G241D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 240048 chr7 27827211 27827211 A G TAX1BP1 Nonsynonymous SNV T186A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 240049 chr5 140807512 140807512 A G rs747625541 PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.853 240050 chr1 11298591 11298591 G A rs780398729 MTOR Nonsynonymous SNV R624C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 30 240051 chr1 113153536 113153536 T C rs35364712 ST7L Synonymous SNV T126T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.042 240052 chr1 113257803 113257803 C T PPM1J Nonsynonymous SNV E41K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 240053 chr1 114380280 114380280 T C rs200849500 PTPN22 Nonsynonymous SNV H526R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.02 240054 chr3 196236406 196236406 G A rs987006207 SMCO1 Nonsynonymous SNV A62V 0.001 0 0 0 1 0 0 0 0 0 0 0 30 240055 chr3 113172551 113172551 G C SPICE1 Nonsynonymous SNV T635S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 240056 chr4 467899 467899 G C rs543717350 ABCA11P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.427 240057 chr1 11562925 11562925 C T rs758373719 DISP3 Synonymous SNV Y429Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 240058 chr7 44266147 44266147 G A rs771967423 CAMK2B Nonsynonymous SNV S522F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.267 240059 chr7 44578712 44578712 C A rs768226054 NPC1L1 Synonymous SNV G428G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.04 240060 chr1 120438577 120438577 G A rs147294252 ADAM30 Nonsynonymous SNV T128I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 23.9 240061 chr4 3449630 3449630 C T rs201196516 HGFAC Nonsynonymous SNV R502W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 240062 chr13 103498672 103498672 C T rs34291397 ERCC5 Nonsynonymous SNV P19L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 240063 chr4 3526650 3526650 G A LRPAP1 Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.205 240064 chr4 5624468 5624468 C A rs149854557 EVC2 Nonsynonymous SNV R686L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 240065 chr4 5696215 5696215 A C rs780711879 EVC2 Synonymous SNV L19L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.138 240066 chr5 160111979 160111979 A G rs770978871 ATP10B Synonymous SNV N83N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 240067 chr4 7045474 7045474 C G TADA2B Synonymous SNV G56G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 240068 chr4 71388513 71388513 T C rs145073103 AMTN Synonymous SNV A31A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 240069 chr4 72429587 72429587 C T rs139191615 SLC4A4 Synonymous SNV S1015S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.39 240070 chr16 1756547 1756547 G A rs755200082 MAPK8IP3 Synonymous SNV V69V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.302 240071 chr1 151680393 151680393 C T CELF3 Nonsynonymous SNV V122M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 240072 chr5 178017114 178017114 T C rs763565486 COL23A1 Nonsynonymous SNV T29A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 240073 chr4 24801667 24801667 G A rs373731075 SOD3 Nonsynonymous SNV G175D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 240074 chr16 2229802 2229802 C T rs368096806 CASKIN1 Synonymous SNV P1189P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.702 240075 chr7 65447024 65447024 G A rs375940373 GUSB Synonymous SNV A49A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 240076 chr3 148577627 148577627 C T rs754387731 CPB1 Synonymous SNV D364D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 240077 chr4 84511413 84511413 T C rs202176842 GPAT3 Synonymous SNV L236L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.293 240078 chr16 23712017 23712017 C T rs149574502 ERN2 Synonymous SNV P404P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.34 240079 chr5 33459810 33459810 G C TARS Nonsynonymous SNV R365T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 240080 chr7 76940694 76940694 G A rs997595271 GSAP Nonsynonymous SNV A602V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.61 240081 chr3 155485345 155485345 G A rs374827619 C3orf33 Nonsynonymous SNV L146F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 240082 chr13 46055367 46055367 G A rs186358969 COG3 Synonymous SNV S184S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 240083 chr4 46388101 46388101 T G rs200153605 GABRA2 Nonsynonymous SNV Q27P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.816 240084 chrX 66766368 66766368 - GGC AR G473_E474insG 0.001 0 0 0 1 0 0 0 0 0 0 0 240085 chr4 47663854 47663854 T C CORIN Nonsynonymous SNV K433E 0.001 0 0 0 1 0 0 0 0 0 0 0 24 240086 chr5 37180253 37180253 A G rs762090006 CPLANE1 Nonsynonymous SNV I1868T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 240087 chr3 167507139 167507139 T G rs780407275 SERPINI1 Nonsynonymous SNV S75A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.729 240088 chr12 5153788 5153788 C T KCNA5 Synonymous SNV L159L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.383 240089 chr5 10461336 10461336 C T rs200043905 ROPN1L Nonsynonymous SNV T153M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 240090 chr1 158746826 158746826 A G OR6N2 Synonymous SNV F200F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.245 240091 chr4 70355241 70355241 C T rs754560734 UGT2B4 Synonymous SNV V306V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.846 240092 chr5 112418603 112418603 C T rs142795218 MCC Nonsynonymous SNV E390K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 240093 chr1 160313194 160313194 C T NCSTN Nonsynonymous SNV T3M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 240094 chr4 71841019 71841019 G T rs545117405 MOB1B Nonsynonymous SNV C142F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.533 240095 chr5 118324051 118324051 C T DTWD2 Synonymous SNV A52A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.24 240096 chr14 102461010 102461010 G A DYNC1H1 Nonsynonymous SNV V1053I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 240097 chr14 104027194 104027194 G C rs375395190 BAG5 Nonsynonymous SNV S103C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 240098 chr1 16272752 16272752 G A rs147654293 ZBTB17 Synonymous SNV T62T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.692 240099 chr5 128320937 128320937 G - rs756866935 SLC27A6 S198Tfs*38 0 0 0 1 0 0 0.003 0 0 0 0 0 240100 chr3 190999910 190999910 - A rs755099806 UTS2B Frameshift insertion L23Ffs*15 0.001 0.003 0 0 1 1 0 0 0 0 0 0 240101 chr4 88986593 88986593 T A rs569788968 PKD2 Nonsynonymous SNV L729Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.5 240102 chr4 89378567 89378567 G C rs765985959 HERC5 Nonsynonymous SNV R49S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.729 240103 chr8 121561097 121561097 A G rs764361263 SNTB1 Nonsynonymous SNV F413S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 240104 chr5 13841066 13841066 G A rs6880264 DNAH5 Synonymous SNV Y1886Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 1.112 240105 chr14 20851403 20851403 C G TEP1 Nonsynonymous SNV R1218P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 240106 chr8 125131181 125131181 C A rs370341864 FER1L6 Nonsynonymous SNV P1796T 0 0 0 2 0 0 0.005 0 0 0 0 0 33 240107 chr1 17592187 17592187 G A rs146573703 PADI3 Nonsynonymous SNV G127E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 240108 chr4 110682718 110682718 C G CFI Nonsynonymous SNV G205R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 240109 chr5 96315434 96315434 A G LNPEP Synonymous SNV T204T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.459 240110 chr4 110908934 110908934 G T EGF Nonsynonymous SNV M800I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 240111 chr4 113299020 113299020 G A rs202167520 ALPK1 Nonsynonymous SNV R3Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.742 240112 chr4 113578399 113578402 TTAG - rs778909076 LARP7 0.001 0 0 0 1 0 0 0 0 0 0 0 240113 chr4 1801510 1801510 A C rs376268669 FGFR3 Nonsynonymous SNV D139A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 240114 chr6 106536189 106536189 T C rs767384683 PRDM1 Synonymous SNV A52A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.866 240115 chr12 68720635 68720635 C G rs140388999 MDM1 Nonsynonymous SNV K100N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.076 240116 chr5 141694585 141694585 C T rs759316507 SPRY4 Nonsynonymous SNV R30Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 240117 chr5 146775156 146775156 C T rs200227942 DPYSL3 Synonymous SNV V644V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.22 240118 chr5 14693030 14693030 A G rs9312870 OTULIN Nonsynonymous SNV N311S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 10.03 240119 chr6 11538587 11538587 C T TMEM170B Nonsynonymous SNV T26M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 240120 chr4 129793236 129793236 G A rs778587937 JADE1 Nonsynonymous SNV R771Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 240121 chr1 1888208 1888208 C T rs778413808 CFAP74 Nonsynonymous SNV E623K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 240122 chr6 118804980 118804980 T C rs200669850 CEP85L Synonymous SNV K493K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.29 240123 chr6 12164224 12164224 G A rs138251849 HIVEP1 Nonsynonymous SNV V2563I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.357 240124 chr12 81101677 81101677 A G MYF6 Nonsynonymous SNV E60G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 240125 chr4 154669901 154669901 G A rs200438202 RNF175 Nonsynonymous SNV H48Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 240126 chr4 155163819 155163819 G A DCHS2 Synonymous SNV P2349P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.089 240127 chr8 145661403 145661403 G A rs373583717 TONSL Nonsynonymous SNV R805W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 240128 chr16 85697193 85697193 A G rs745443907 GSE1 Nonsynonymous SNV T769A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 240129 chr5 154181666 154181666 G T rs150837134 LARP1 Nonsynonymous SNV D334Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 240130 chr6 13599325 13599325 C T rs200168262 SIRT5 Synonymous SNV L209L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 240131 chr6 138656236 138656236 G C ARFGEF3 Nonsynonymous SNV E2085Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28 240132 chr10 27333121 27333121 - AA rs749880815 ANKRD26 0 0.003 0.003 0 0 1 0 1 0 0 0 0 240133 chr6 139238707 139238707 T C rs553814177 REPS1 Nonsynonymous SNV N502S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.2 240134 chr1 202894316 202894316 T C KLHL12 Nonsynonymous SNV H30R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.994 240135 chr5 161324133 161324133 A T GABRA1 Nonsynonymous SNV D359V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 240136 chr1 203044784 203044784 T C rs200298818 PPFIA4 Nonsynonymous SNV M1149T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 240137 chr5 16617063 16617063 A C rs773314283 RETREG1 Synonymous SNV P6P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.137 240138 chr5 16668440 16668440 C T rs376568357 MYO10 Synonymous SNV A2007A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.36 240139 chr4 25673284 25673284 C T rs79450009 SLC34A2 Nonsynonymous SNV T329M 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 240140 chr6 147124428 147124428 T G rs182941191 KATNBL1P6 0 0 0.003 0 0 0 0 1 0 0 0 0 5.313 240141 chr16 88798202 88798202 G A PIEZO1 Synonymous SNV R1036R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 240142 chr16 88804762 88804762 T C PIEZO1 Nonsynonymous SNV S241G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.214 240143 chr4 38800059 38800059 A C rs141970382 TLR1 Nonsynonymous SNV C132G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 240144 chr1 206858675 206858675 - GCC rs782607822 MAPKAPK2 P40_Q41insP 0.003 0 0 0 3 0 0 0 0 0 0 0 240145 chr6 152469496 152469496 G A rs150811468 SYNE1 Synonymous SNV H375H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.18 240146 chr4 186548011 186548011 A T rs1802262 SORBS2 Synonymous SNV S203S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.945 240147 chr4 186570698 186570698 C T rs7663605 SORBS2 Synonymous SNV A68A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 240148 chr6 152652248 152652248 G A rs111511993 SYNE1 Synonymous SNV V4453V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.207 240149 chr6 152655373 152655373 G A rs141202420 SYNE1 Synonymous SNV S4117S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.384 240150 chr5 177690212 177690212 - G COL23A1 Frameshift insertion A213Sfs*24 0 0 0 1 0 0 0.003 0 0 0 0 0 240151 chr1 211462689 211462689 A T rs370617252 RCOR3 Nonsynonymous SNV N239I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 240152 chr6 159183113 159183113 G A rs6929012 SYTL3 Nonsynonymous SNV D268N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.58 240153 chr5 178585753 178585753 C T rs146441575 ADAMTS2 Nonsynonymous SNV R368Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 240154 chr14 74489815 74489815 C A rs182496407 BBOF1 Nonsynonymous SNV L85M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 240155 chr10 50186393 50186393 C T rs188521712 WDFY4 Nonsynonymous SNV R3111W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 20.2 240156 chr10 50533054 50533054 T G rs200614820 C10orf71 Nonsynonymous SNV F822V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.216 240157 chr6 161135933 161135933 T C rs151092364 PLG Nonsynonymous SNV Y219H 0 0 0.003 0 0 0 0 1 0 0 0 0 29 240158 chr10 50679045 50679045 T C rs774293345 ERCC6 Nonsynonymous SNV T1016A 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 27.1 240159 chr4 69101871 69101871 T C rs376428535 TMPRSS11B Nonsynonymous SNV K80E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 240160 chr14 77797486 77797486 A C rs772218894 GSTZ1 Nonsynonymous SNV Q158P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.63 240161 chr10 64573574 64573574 C T EGR2 Nonsynonymous SNV G275D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 240162 chr6 170871045 170871045 - GC TBP Frameshift insertion Q55Hfs*70 0 0 0.003 0 0 0 0 1 0 0 0 0 240163 chr6 170871046 170871046 - GCAG TBP Frameshift insertion Q55Afs*104 0 0 0.003 0 0 0 0 1 0 0 0 0 240164 chr5 37181085 37181085 C T CPLANE1 Nonsynonymous SNV G1815E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 240165 chr5 37605340 37605340 T C rs147436961 WDR70 Synonymous SNV T342T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.94 240166 chr14 89656767 89656767 T C rs760503996 FOXN3 Nonsynonymous SNV M258V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 240167 chr5 464446 464446 G A EXOC3 Synonymous SNV G565G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.933 240168 chr5 41064608 41064608 G T MROH2B Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 240169 chr1 228879267 228879267 A T rs940386739 RHOU Nonsynonymous SNV E186V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 240170 chr11 94554798 94554798 G A rs370986721 AMOTL1 Synonymous SNV P358P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.872 240171 chr6 26430773 26430773 C T BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.201 240172 chr6 27327000 27327000 C T rs72839477 ZNF204P 0 0 0.024 0 0 0 0 7 0 0 0 0 16.39 240173 chr6 27730082 27730082 C T rs72847313 LOC100131289 0 0 0.024 0 0 0 0 7 0 0 0 0 7.803 240174 chr6 27730334 27730334 T C rs17750747 LOC100131289 0 0 0.024 0 0 0 0 7 0 0 0 0 1.017 240175 chr1 232941031 232941031 C G MAP10 Nonsynonymous SNV Q88E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 240176 chr6 28058949 28058949 G C rs35902873 ZSCAN12P1 0 0 0.024 0 0 0 0 7 0 0 0 0 1.388 240177 chr5 58273132 58273132 T C PDE4D Synonymous SNV L307L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.109 240178 chr13 52603752 52603754 AGA - UTP14C K272del 0.001 0 0 0 1 0 0 0 0 0 0 0 240179 chr4 105412465 105412467 GCC - rs757791031 CXXC4 G165del 0 0.003 0 0 0 1 0 0 0 0 0 0 240180 chr6 2989881 2989881 T G rs1018890077 LINC01011 0 0 0.003 0 0 0 0 1 0 0 0 0 5.202 240181 chr1 236645619 236645619 G A EDARADD Synonymous SNV L96L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.856 240182 chr5 74054696 74054696 G A rs745682210 GFM2 Synonymous SNV S94S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.17 240183 chr12 109880034 109880034 T C MYO1H Nonsynonymous SNV I866T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 240184 chr1 24394835 24394835 C G rs145156576 MYOM3 Nonsynonymous SNV R1058P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 240185 chr6 4069459 4069459 G T FAM217A Nonsynonymous SNV P333Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 240186 chr14 103336727 103336727 G A rs142350527 TRAF3 Synonymous SNV P63P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 7.792 240187 chr5 79473783 79473783 C G rs55928876 SERINC5 Nonsynonymous SNV C100S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.8 240188 chr14 103804758 103804758 A G rs753234530 EIF5 Synonymous SNV T178T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.012 240189 chr14 103804759 103804759 C A EIF5 Nonsynonymous SNV P179T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.959 240190 chr5 79034604 79034604 C A rs932864869 CMYA5 Nonsynonymous SNV A3339E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 240191 chr6 42832495 42832495 A C rs555680694 BICRAL Nonsynonymous SNV S851R 0 0 0.01 0 0 0 0 3 0 0 0 0 22.6 240192 chr14 105176005 105176005 G A rs772557416 INF2 Nonsynonymous SNV A701T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 240193 chr5 90107079 90107079 C T ADGRV1 Synonymous SNV N5334N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 240194 chr15 42145506 42145506 G A rs201119789 SPTBN5 Nonsynonymous SNV R3374W 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 240195 chr12 120750421 120750421 C T rs61761941 SIRT4 Synonymous SNV C220C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 240196 chr5 90079091 90079091 A G rs182698253 ADGRV1 Nonsynonymous SNV H4461R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.69 240197 chr12 121678632 121678632 G A CAMKK2 Nonsynonymous SNV P489S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 240198 chr5 9629470 9629470 G A rs2234234 TAS2R1 Synonymous SNV S225S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.757 240199 chr6 49519051 49519051 C A rs749932101 C6orf141 Synonymous SNV T182T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.96 240200 chr17 39296467 39296467 T C rs775289644 KRTAP4-6 Synonymous SNV R91R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.719 240201 chr15 48780628 48780628 C T rs778181932 FBN1 Nonsynonymous SNV G1049S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 240202 chr6 51484077 51484077 G C rs143616240 PKHD1 Stop gain Y4009X 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 49 240203 chr5 101834305 101834305 C A rs748994119 SLCO6A1 Nonsynonymous SNV D82Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 240204 chr9 125281962 125281962 T C OR1J4 Synonymous SNV L181L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 240205 chr17 39383156 39383156 C A rs34024914 KRTAP9-2 Nonsynonymous SNV P84T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.374 240206 chr15 51350102 51350102 C T rs752931999 TNFAIP8L3 Synonymous SNV K197K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 240207 chr5 110560252 110560252 G A rs199721159 CAMK4 Nonsynonymous SNV G24E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 240208 chr5 112770341 112770341 T C rs143941919 TSSK1B Nonsynonymous SNV M66V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.17 240209 chr6 74304933 74304933 G C rs202005821 SLC17A5 Nonsynonymous SNV T452S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 240210 chr12 132426313 132426313 G A rs142624501 PUS1 Nonsynonymous SNV E313K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 240211 chr6 76023650 76023650 G A FILIP1 Nonsynonymous SNV T633I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 240212 chr5 131080348 131080348 C T FNIP1 Nonsynonymous SNV R43Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 240213 chr6 7988394 7988394 T G rs144480836 PIP5K1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.822 240214 chr14 26917789 26917789 A G rs377035962 NOVA1 Synonymous SNV F239F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.111 240215 chr12 1675968 1675968 T C rs74058766 FBXL14 Synonymous SNV R401R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 240216 chr1 3691958 3691958 C T rs758237481 SMIM1 Synonymous SNV H7H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 240217 chr12 25308336 25308336 C T CASC1 Nonsynonymous SNV R5K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 240218 chr9 136226908 136226908 C A rs144144547 SURF2 Nonsynonymous SNV D140E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.219 240219 chr6 148854103 148854103 - TATC rs748834543 SASH1 0 0 0 1 0 0 0.003 0 0 0 0 0 240220 chr6 149924421 149924421 T C KATNA1 Nonsynonymous SNV I238V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 240221 chr15 78305251 78305251 G A rs770231051 TBC1D2B Synonymous SNV T728T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.664 240222 chr7 100550612 100550612 G A rs933357132 MUC3A Nonsynonymous SNV S398N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.958 240223 chr5 140762483 140762483 G A PCDHGA7 Nonsynonymous SNV R6K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 240224 chr6 151936718 151936718 G A rs369370048 CCDC170 Synonymous SNV E617E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.18 240225 chr5 142513564 142513564 C A rs769121957 ARHGAP26 Synonymous SNV T577T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 240226 chr14 61449242 61449242 G C rs767975089 SLC38A6 Nonsynonymous SNV R41P 0.002 0 0 0 2 0 0 0 0 0 0 0 23 240227 chr6 155486535 155486535 A G rs62621836 TIAM2 Nonsynonymous SNV I785V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.566 240228 chr1 46179923 46179923 C T rs755236274 IPP Nonsynonymous SNV E509K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 240229 chr6 158923607 158923607 G T TULP4 Nonsynonymous SNV G971V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.52 240230 chr1 47279899 47279899 G A rs138537119 CYP4B1 Nonsynonymous SNV R102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 240231 chr17 61611614 61611614 T C rs150701807 KCNH6 Nonsynonymous SNV I348T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 240232 chr5 73181701 73181701 C T rs201386583 ARHGEF28 Nonsynonymous SNV R715C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.4 240233 chr5 73190227 73190227 C G rs772543205 ARHGEF28 Nonsynonymous SNV T910S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.723 240234 chr12 49431290 49431290 - TGC rs758215754 KMT2D Q3282_H3283insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 240235 chr12 49958635 49958635 G A MCRS1 Nonsynonymous SNV P124L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 240236 chr5 159520323 159520323 T G rs200115226 PWWP2A Nonsynonymous SNV E445A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.707 240237 chr5 162917489 162917489 T G rs754457684 HMMR Nonsynonymous SNV F599V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 240238 chr9 2718645 2718645 G A rs924690645 KCNV2 Synonymous SNV L302L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.749 240239 chr7 117432025 117432025 T C CTTNBP2 Nonsynonymous SNV T391A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 240240 chr5 167913509 167913509 C T rs759568277 RARS1 Synonymous SNV D2D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 240241 chr7 123672487 123672487 G A TMEM229A Stop gain Q191X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 240242 chr5 175956813 175956813 C T RNF44 Nonsynonymous SNV M311I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 240243 chr1 65690524 65690524 C T rs768280167 AK4 Synonymous SNV D124D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 240244 chr16 11010269 11010269 G A rs764664500 CIITA Synonymous SNV S421S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.46 240245 chr5 176798195 176798195 G C RGS14 Synonymous SNV G429G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 240246 chr1 67327944 67327944 C A WDR78 Nonsynonymous SNV A328S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.598 240247 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAAAAAA 0.002 0 0 0 2 0 0 0 0 0 0 0 240248 chr6 3010344 3010344 C T rs140179949 NQO2 Synonymous SNV S31S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 240249 chr7 130135237 130135237 C T MEST Synonymous SNV L19L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.64 240250 chr9 5463051 5463051 T C rs994086465 CD274 Synonymous SNV N90N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.037 240251 chr16 1417190 1417190 G A rs761276866 UNKL Nonsynonymous SNV P146L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.298 240252 chr9 72459532 72459532 T A C9orf135 Nonsynonymous SNV D84E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 240253 chr1 86916312 86916312 G C rs775666804 CLCA2 Nonsynonymous SNV R684T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 240254 chr9 95411756 95411756 C T rs142275465 IPPK Synonymous SNV P131P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.998 240255 chr16 2053032 2053032 T C ZNF598 Nonsynonymous SNV H142R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 240256 chr1 914769 914769 C T rs572625775 PERM1 Synonymous SNV G547G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.312 240257 chr6 42073339 42073339 G T C6orf132 Nonsynonymous SNV P771T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 240258 chr7 149463018 149463018 C G rs866365936 ZNF467 Synonymous SNV P191P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.81 240259 chr7 149498967 149498967 C T rs369207711 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 240260 chr7 149523176 149523176 C T rs367965824 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 240261 chr15 31319119 31319119 C T rs201141648 TRPM1 Synonymous SNV L1182L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 10.99 240262 chr15 32928725 32928725 T A ARHGAP11A Nonsynonymous SNV L395H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 240263 chr9 99521784 99521784 T C rs139940378 ZNF510 Nonsynonymous SNV Q381R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 240264 chr9 99800275 99800275 A T rs139219617 CTSV Synonymous SNV A17A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.262 240265 chr12 64697426 64697426 G C C12orf56 Nonsynonymous SNV L208V 0.003 0 0 0 3 0 0 0 0 0 0 0 26 240266 chr17 76993698 76993698 C T rs748217733 CANT1 Nonsynonymous SNV V3M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 240267 chr6 43487122 43487122 A G rs141471029 POLR1C Nonsynonymous SNV M65V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 240268 chr7 151110051 151110053 CTT - rs142551907 WDR86-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 240269 chr12 662962 662962 G A rs748102597 B4GALNT3 Nonsynonymous SNV V625I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.975 240270 chr6 44249884 44249884 A C rs150797230 TCTE1 Nonsynonymous SNV L420R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 240271 chrX 103499025 103499025 G A rs782300648 ESX1 Synonymous SNV L106L 0.002 0 0 3 2 0 0.008 0 0 0 0 1 7.793 240272 chr6 25819762 25819762 C T rs148635037 SLC17A1 Nonsynonymous SNV R169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 240273 chr16 2546198 2546198 G A rs757359393 TBC1D24 Nonsynonymous SNV A17T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.552 240274 chr16 27474869 27474869 G A rs149533099 GTF3C1 Nonsynonymous SNV R1948W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 240275 chr15 40488855 40488857 GAG - rs1060499943 BUB1B E391del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 240276 chr7 155556664 155556664 T C rs754435306 RBM33 Synonymous SNV P1046P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.313 240277 chrX 114424061 114424061 C T rs782631665 RBMXL3 Synonymous SNV T19T 0 0 0 3 0 0 0.008 0 0 0 0 1 11.1 240278 chrX 118239021 118239021 G A rs777342247 KIAA1210 Synonymous SNV L334L 0 0 0 3 0 0 0.008 0 0 0 0 1 3.82 240279 chr11 45955694 45955694 C T rs370627435 PHF21A Nonsynonymous SNV R623H 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.1 240280 chr12 77423802 77423802 G T rs376507921 E2F7 Nonsynonymous SNV P565T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 240281 chr7 21630592 21630592 A G DNAH11 Nonsynonymous SNV I742M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 240282 chr6 54095704 54095704 G A rs145131028 MLIP Nonsynonymous SNV A436T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.029 240283 chr5 143853560 143853560 A G rs201201619 KCTD16 Synonymous SNV S390S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 240284 chr7 27141799 27141799 G C rs754968761 HOXA2 Synonymous SNV T107T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.799 240285 chr7 2958153 2958153 C A CARD11 Nonsynonymous SNV G860V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 240286 chr6 71562322 71562322 G A rs148456598 SMAP1 Synonymous SNV P221P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 240287 chr20 21377990 21377990 G A rs757117256 NKX2-4 Synonymous SNV I16I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 240288 chr20 3003464 3003464 A G rs780782587 PTPRA Synonymous SNV Q477Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.273 240289 chr13 103381837 103381837 C T rs780191779 CCDC168 Synonymous SNV S7070S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 240290 chr16 49430525 49430525 A C C16orf78 Nonsynonymous SNV K196Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 240291 chr6 43487078 43487078 G A rs368486399 POLR1C Nonsynonymous SNV R50H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 240292 chr5 154395190 154395190 C A rs755011320 KIF4B Nonsynonymous SNV Q591K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.22 240293 chr20 3546021 3546021 A G rs750962662 ATRN Nonsynonymous SNV R489G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 240294 chrX 48337087 48337087 A G FTSJ1 Nonsynonymous SNV I92V 0 0 0 1 0 0 0.003 0 0 0 0 0 25 240295 chr6 99860482 99860482 T C rs199561395 PNISR Synonymous SNV P74P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.817 240296 chr7 47969075 47969075 T G rs781044180 PKD1L1 Synonymous SNV A262A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.04 240297 chr5 172110736 172110736 G C rs760509255 NEURL1B Nonsynonymous SNV V116L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 240298 chr7 48411787 48411787 A C rs78147863 ABCA13 Nonsynonymous SNV H3609P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.7 240299 chr13 19751480 19751480 G A rs757305289 TUBA3C Nonsynonymous SNV R215C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 240300 chr20 3888748 3888748 C T rs572915908 PANK2 Synonymous SNV L268L 0.006 0 0 2 7 0 0.005 0 0 0 0 0 15.18 240301 chr20 39830749 39830749 C T rs767257062 ZHX3 Synonymous SNV E936E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.935 240302 chr16 677371 677371 G A RAB40C Nonsynonymous SNV A199T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 240303 chrX 76938028 76938028 C T rs143413618 ATRX Nonsynonymous SNV R869Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.058 240304 chrX 86877239 86877239 A G KLHL4 Nonsynonymous SNV Q318R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 240305 chr20 44259582 44259582 A G rs141343026 WFDC10A Synonymous SNV E55E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.115 240306 chr5 179149910 179149910 A G CANX Nonsynonymous SNV T322A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 240307 chr20 44534955 44534955 G A PLTP Synonymous SNV L124L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 240308 chr7 73649883 73649883 G A RFC2 Synonymous SNV Y208Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.223 240309 chr6 76331308 76331308 A G rs34451237 SENP6 Nonsynonymous SNV H38R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.9 240310 chr20 46307535 46307535 C T rs61730620 SULF2 Nonsynonymous SNV V360I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 240311 chr6 83075906 83075906 A G rs141642142 TPBG Nonsynonymous SNV R410G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 240312 chr6 83947435 83947435 C A rs756193497 ME1 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 240313 chr6 88854190 88854190 G A CNR1 Synonymous SNV F268F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.105 240314 chr6 90393043 90393043 G C MDN1 Synonymous SNV L3970L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 240315 chr6 90397896 90397896 C G LOC101929057 0.001 0 0 0 1 0 0 0 0 0 0 0 2.472 240316 chr16 75146374 75146374 G A LDHD Synonymous SNV I468I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 240317 chr7 92825188 92825188 C T rs145244580 HEPACAM2 Nonsynonymous SNV G398R 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 34 240318 chr11 56229974 56229974 C T rs201424323 OR5M9 Nonsynonymous SNV A302T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.41 240319 chr20 58514669 58514669 G C rs369153560 PPP1R3D Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.135 240320 chr7 99565877 99565877 G T rs781225199 AZGP1 Nonsynonymous SNV P172T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.967 240321 chr15 90142679 90142679 A G rs776034024 TICRR Synonymous SNV L674L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.413 240322 chr7 101918630 101918630 C T rs199822336 CUX1 Synonymous SNV A505A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 240323 chr10 116048730 116048730 T C rs781146365 VWA2 Nonsynonymous SNV M535T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.38 240324 chr10 116307495 116307495 C T rs191468888 ABLIM1 Synonymous SNV A178A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.91 240325 chr6 108798471 108798471 C T AFG1L Synonymous SNV C346C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.91 240326 chr15 90904060 90904060 C T ZNF774 Nonsynonymous SNV H333Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 240327 chr15 91428765 91428765 C T rs770735267 FES Nonsynonymous SNV R113C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 240328 chr13 99061690 99061690 G A rs142356955 FARP1 Nonsynonymous SNV D505N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 240329 chr15 91479669 91479669 C T rs199831896 UNC45A Synonymous SNV I120I 0.003 0 0.007 0 4 0 0 2 0 0 0 0 16.46 240330 chr15 93510675 93510675 A G CHD2 Synonymous SNV K707K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.945 240331 chr8 110476965 110476965 C T rs182056196 PKHD1L1 Nonsynonymous SNV T2635M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 240332 chr15 99511735 99511735 G A rs771531915 PGPEP1L Nonsynonymous SNV T188I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.892 240333 chr10 124345664 124345664 C A rs201816514 DMBT1 Synonymous SNV G506G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.87 240334 chr14 103442046 103442046 G A rs377142500 CDC42BPB Synonymous SNV I494I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.97 240335 chr6 28240525 28240525 C T rs187327081 ZSCAN26 Nonsynonymous SNV R32W 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 10.48 240336 chr7 127014287 127014287 T C rs766659403 ZNF800 Nonsynonymous SNV Y368C 0 0 0 1 0 0 0.003 0 0 0 0 0 24 240337 chr8 125326267 125326267 T C rs150069873 TMEM65 Synonymous SNV L219L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.782 240338 chr6 135784390 135784390 T G rs35528530 AHI1 Synonymous SNV S268S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.797 240339 chr7 129691124 129691124 G T rs145290627 ZC3HC1 Nonsynonymous SNV T28N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 240340 chr6 146865021 146865021 G A rs762312390 RAB32 Nonsynonymous SNV G5E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 240341 chr21 32185425 32185425 C T rs755058041 KRTAP8-1 Synonymous SNV V38V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 240342 chr7 134896225 134896225 C T rs149902997 WDR91 Synonymous SNV E10E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.58 240343 chr11 61508693 61508693 G A DAGLA Synonymous SNV V681V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.33 240344 chr7 140221713 140221713 C T rs368264444 DENND2A Synonymous SNV E951E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.85 240345 chr10 15296787 15296787 C T rs778309261 FAM171A1 Synonymous SNV T170T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.88 240346 chr21 37444970 37444970 C T rs145472382 CBR1 Synonymous SNV H208H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.6 240347 chr6 152675841 152675841 G A rs149712464 SYNE1 Nonsynonymous SNV R3627C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 240348 chr21 37618281 37618281 C A DOP1B Nonsynonymous SNV H1335N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 240349 chr17 10352031 10352031 G A rs61745309 MYH4 Nonsynonymous SNV R1479C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 240350 chr7 142637601 142637601 T C rs148010864 LLCFC1 Nonsynonymous SNV V124A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.74 240351 chr7 143095987 143095987 A G EPHA1 Nonsynonymous SNV L348P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 240352 chr7 143140796 143140796 C T rs150444005 TAS2R60 Nonsynonymous SNV P84L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.71 240353 chr7 143141230 143141230 C A rs139329687 TAS2R60 Nonsynonymous SNV L229I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.182 240354 chr7 143208114 143208114 C G rs750634457 OR10AC1 Nonsynonymous SNV R297P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 240355 chr21 42824742 42824742 G A rs138132937 MX1 Synonymous SNV S568S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.206 240356 chr8 144940692 144940694 TCA - rs782586059 EPPK1 M2243del 0 0 0.007 0 0 0 0 2 0 0 0 0 240357 chr7 1479589 1479589 G T rs370534746 MICALL2 Synonymous SNV R646R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.567 240358 chr7 149482278 149482278 G C rs376904859 SSPO 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.02 240359 chr17 1650357 1650357 G A rs186432737 SERPINF2 Nonsynonymous SNV A74T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.523 240360 chr11 64402898 64402898 C T rs141426534 NRXN2 Nonsynonymous SNV G98R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 240361 chr21 44182287 44182287 G A rs140836666 PDE9A Nonsynonymous SNV A177T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.2 240362 chr10 3146053 3146053 C T rs61760977 PFKP Synonymous SNV C152C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 11.62 240363 chr21 44274679 44274679 A T rs765431906 WDR4 Nonsynonymous SNV C261S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.576 240364 chr8 145583397 145583397 G A rs377110942 SLC52A2 Nonsynonymous SNV R82Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 240365 chr6 52137108 52137108 G A MCM3 Synonymous SNV D325D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.202 240366 chr8 146033280 146033280 A C rs200252349 ZNF517 Nonsynonymous SNV I320L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.095 240367 chr21 45709676 45709676 C T rs138066507 AIRE Synonymous SNV G263G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.63 240368 chr21 45855079 45855079 C T rs45589233 TRPM2 Nonsynonymous SNV T28M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.36 240369 chr21 45877190 45877190 C T rs145587545 LRRC3 Synonymous SNV Y221Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.958 240370 chr7 157159204 157159204 C T rs886043038 DNAJB6 Nonsynonymous SNV R62W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 240371 chr11 65374192 65374192 G C MAP3K11 Nonsynonymous SNV P525A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.7 240372 chr11 65385906 65385906 C T rs371461184 PCNX3 Nonsynonymous SNV T358M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 240373 chr14 45473502 45473502 A G rs769249015 TOGARAM1 Synonymous SNV L859L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.689 240374 chr21 47359946 47359946 A G rs370531045 PCBP3 Synonymous SNV L278L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 240375 chr8 20022595 20022595 A T rs200999134 SLC18A1 Nonsynonymous SNV F294L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 240376 chr21 47552449 47552449 A C rs11910483 COL6A2 Nonsynonymous SNV I1015L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.9 240377 chr21 47565780 47565780 G C rs138803850 FTCD Synonymous SNV R350R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.177 240378 chr21 47571810 47571810 T A rs116089237 FTCD Nonsynonymous SNV K151M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.6 240379 chr7 21657265 21657265 G A rs151018293 DNAH11 Nonsynonymous SNV R1375H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 240380 chr7 21856109 21856109 C G DNAH11 Nonsynonymous SNV L3453V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.53 240381 chr6 83848556 83848556 A G rs776152802 DOP1A Nonsynonymous SNV I1590V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.98 240382 chr7 23508147 23508147 G T IGF2BP3 Nonsynonymous SNV H64N 0 0 0 1 0 0 0.003 0 0 0 0 0 23 240383 chr7 23682569 23682569 T C rs150112348 CCDC126 Synonymous SNV I86I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.281 240384 chr7 5410365 5410365 G A rs61745241 TNRC18 Nonsynonymous SNV S1287F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 240385 chr10 50690883 50690883 C T rs535929212 ERCC6 Synonymous SNV L673L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 18.17 240386 chr7 27170088 27170088 G A rs762404049 HOXA4 Synonymous SNV L89L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.51 240387 chr21 47974505 47974505 G A rs760104702 DIP2A Nonsynonymous SNV A1054T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 240388 chr21 47985694 47985694 C T rs16979409 DIP2A Synonymous SNV A1407A 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 14.96 240389 chr7 6476161 6476161 G C rs145491977 DAGLB Nonsynonymous SNV T84R 0.002 0 0.01 0 2 0 0 3 0 0 1 0 29.9 240390 chr10 53458033 53458033 T G CSTF2T Nonsynonymous SNV E426A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.942 240391 chr7 6566278 6566278 T G GRID2IP Nonsynonymous SNV E236A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 240392 chr10 5979234 5979234 C T rs137963663 FBH1 Synonymous SNV L1041L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.21 240393 chr22 18912653 18912653 C T rs199907923 LOC102724788, PRODH Nonsynonymous SNV G85D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.11 240394 chr7 30821706 30821706 A T MINDY4 Synonymous SNV S99S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 240395 chr14 60592536 60592536 A G rs761237141 PCNX4 Nonsynonymous SNV N854D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 240396 chr17 30621385 30621385 A C rs767315929 RHBDL3 Nonsynonymous SNV K137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 240397 chr8 37823028 37823028 G C rs769696486 ADRB3 Synonymous SNV P320P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 240398 chr16 57552150 57552150 G A CCDC102A Nonsynonymous SNV R360C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 240399 chr14 65198169 65198169 G A rs561314884 PLEKHG3 Nonsynonymous SNV V314M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 240400 chr19 2834679 2834679 C T rs145336515 ZNF554 Synonymous SNV H482H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 240401 chr7 43917465 43917465 G A rs7807549 URGCP Synonymous SNV L524L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.822 240402 chr7 44104913 44104913 G A rs111656877 PGAM2 Synonymous SNV D72D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.043 240403 chr14 69061228 69061228 G A rs61758785 RAD51B Nonsynonymous SNV A355T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.995 240404 chr7 44116207 44116207 C A rs28382653 POLM Nonsynonymous SNV V246F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 240405 chr7 44157548 44157548 G A rs144958436 POLD2 Synonymous SNV S112S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 240406 chr16 67968814 67968814 G A rs775524615 PSMB10 Nonsynonymous SNV T199I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 240407 chr16 68014268 68014268 G A rs766402220 DPEP3 Nonsynonymous SNV R6C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 240408 chr22 25294345 25294345 A G SGSM1 Nonsynonymous SNV D749G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 240409 chr8 56364493 56364493 G A rs947032947 SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.888 240410 chr17 36830259 36830259 G A rs909967648 EPOP Nonsynonymous SNV L164F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 240411 chr8 6299672 6299672 G A MCPH1 Nonsynonymous SNV C174Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.567 240412 chr10 74167727 74167727 T C rs562566048 MICU1 Synonymous SNV A182A 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 8.242 240413 chr8 63831044 63831044 C T NKAIN3 Synonymous SNV I168I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 240414 chr22 29533536 29533536 G A rs146915661 KREMEN1 Nonsynonymous SNV V280I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 240415 chr7 39379340 39379340 - CCCGCAACCAGCC POU6F2 Frameshift insertion Q239Afs*72 0.001 0 0 0 1 0 0 0 0 0 0 0 240416 chr8 70744412 70744412 T A rs373889949 SLCO5A1 Nonsynonymous SNV E166V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 240417 chr7 48520677 48520677 C G rs201866395 ABCA13 Nonsynonymous SNV H4340Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.48 240418 chr7 53103445 53103445 C A rs201720958 POM121L12 Nonsynonymous SNV D27E 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 240419 chr7 5427374 5427374 C G rs369115613 TNRC18 Nonsynonymous SNV S694T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 240420 chr7 5540144 5540144 G A rs770102401 FBXL18 Nonsynonymous SNV H586Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 240421 chr7 56144541 56144541 T C rs756416356 SUMF2 Nonsynonymous SNV W169R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.3 240422 chr14 89077209 89077209 C T rs139980286 ZC3H14 Nonsynonymous SNV P280L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 240423 chr22 37967873 37967873 G A rs369355155 LGALS2 Synonymous SNV I24I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.879 240424 chr22 38111796 38111796 G A rs368119524 TRIOBP Synonymous SNV E161E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.903 240425 chr7 51095939 51095939 C G rs139783292 COBL Nonsynonymous SNV G952R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 240426 chr11 93911601 93911601 G A rs201108551 PANX1 Nonsynonymous SNV A130T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.3 240427 chr7 73030481 73030481 T C rs782673073 MLXIPL Nonsynonymous SNV K107R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 240428 chr9 101235458 101235458 G A rs745748763 GABBR2 Synonymous SNV S323S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 240429 chr11 95825234 95825254 TGTTGTTGCTGCTGCTGCTGC - rs746909008 MAML2 Q659_Q665del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 240430 chr10 99527542 99527542 T A rs61751503 SFRP5 Nonsynonymous SNV K228M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 240431 chr10 99527543 99527543 T G rs148730945 SFRP5 Nonsynonymous SNV K228Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 240432 chr19 38958382 38958382 C T rs149096607 RYR1 Nonsynonymous SNV A1104V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.3 240433 chr6 159197440 159197440 A C rs147363431 EZR Synonymous SNV P265P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.98 240434 chr7 73530287 73530287 C T rs139614064 LIMK1 Synonymous SNV N488N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.765 240435 chr19 39669177 39669177 T C PAK4 Synonymous SNV P425P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.018 240436 chr12 103352226 103352226 G A ASCL1 Synonymous SNV P68P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.91 240437 chr6 160543262 160543262 G A rs535669545 SLC22A1 Nonsynonymous SNV A99T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.559 240438 chr17 40735593 40735593 G A rs765041342 RETREG3 Nonsynonymous SNV R245C 0.003 0 0 0 4 0 0 0 0 0 0 0 26.9 240439 chr12 104033908 104033908 - C STAB2 Frameshift insertion E306Rfs*3 0.001 0.005 0 0 1 2 0 0 0 0 0 0 240440 chr7 84666304 84666304 G A rs149139295 SEMA3D Synonymous SNV D364D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.86 240441 chr16 88802585 88802585 G A PIEZO1 Nonsynonymous SNV R510C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 240442 chr9 116116523 116116523 A G rs202215549 BSPRY Nonsynonymous SNV K69E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 240443 chr6 170105313 170105313 G A rs138138680 PHF10 Nonsynonymous SNV H443Y 0 0.003 0 0 0 1 0 0 0 0 0 0 17.6 240444 chr7 92763104 92763104 C T SAMD9L Synonymous SNV E727E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.388 240445 chr9 123292350 123292350 T C rs199670126 CDK5RAP2 Nonsynonymous SNV K244R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.33 240446 chr7 99022700 99022700 G A rs369540728 ATP5MF-PTCD1, PTCD1 Synonymous SNV P485P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.852 240447 chr7 995004 995004 G T rs147829246 ADAP1 Nonsynonymous SNV P14T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.245 240448 chr12 110246264 110246264 C T rs114101785 TRPV4 Synonymous SNV P132P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 14.97 240449 chr11 103055732 103055732 A T rs776961320 DYNC2H1 Synonymous SNV G2195G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.478 240450 chr7 100033023 100033023 G C rs771432089 PPP1R35 Nonsynonymous SNV T241S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 240451 chr7 100414843 100414843 T C EPHB4 Nonsynonymous SNV Q520R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 240452 chr7 100463958 100463958 G A SLC12A9 Nonsynonymous SNV G683R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 240453 chr19 44590634 44590634 A G rs373145363 ZNF284 Nonsynonymous SNV M335V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 0.018 240454 chr7 100486624 100486624 A C UFSP1 Nonsynonymous SNV L90W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 240455 chr17 4717774 4717774 G T rs191478800 PLD2 Stop gain E358X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 240456 chr9 126139333 126139333 C T CRB2 Nonsynonymous SNV L1284F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 240457 chr8 105479023 105479023 G A DPYS Synonymous SNV P42P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.689 240458 chr11 106888565 106888565 - GGCAGC rs775134077 GUCY1A2 A72_T73insAA 0 0 0 1 0 0 0.003 0 0 0 0 0 240459 chr19 44739278 44739278 G A rs749804935 ZNF227 Nonsynonymous SNV G153D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 11.72 240460 chr11 108216546 108216546 G A rs529296539 ATM Nonsynonymous SNV R2832H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24 240461 chr7 5410178 5410178 C T rs180705972 TNRC18 Synonymous SNV A1349A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.84 240462 chr9 130206487 130206487 C T rs369295000 ZNF79 Nonsynonymous SNV R36C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 240463 chr7 5428966 5428966 G A rs769320930 TNRC18 Synonymous SNV D163D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.2 240464 chr2 103040381 103040381 C G IL18RAP Nonsynonymous SNV R61G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.883 240465 chr11 112014328 112014328 G A rs5744290 IL18 Synonymous SNV N187N 0 0.003 0.007 3 0 1 0.008 2 0 0 0 0 3.39 240466 chr8 116632015 116632015 G A rs200964070 TRPS1 Nonsynonymous SNV P95S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.29 240467 chr15 42456594 42456594 T C rs200646811 VPS39 Nonsynonymous SNV Y663C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 240468 chr7 7529064 7529064 G A COL28A1 Nonsynonymous SNV P374S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.8 240469 chr9 131600010 131600010 C A KYAT1 Nonsynonymous SNV R124L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 240470 chr2 1094059 1094060 CC - SNTG2 P97Cfs*13 0.001 0.003 0 0 1 1 0 0 0 0 0 0 240471 chr19 45648155 45648155 C T PPP1R37 Nonsynonymous SNV P344L 0.003 0 0 0 4 0 0 0 0 0 0 0 24.1 240472 chr9 132084683 132084683 A G rs755361737 C9orf106 0 0 0.003 0 0 0 0 1 0 0 0 0 0.964 240473 chr2 111423873 111423873 A G BUB1 Synonymous SNV H288H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.717 240474 chr17 18157836 18157836 G A rs370401968 FLII Nonsynonymous SNV R181W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 240475 chr7 12620782 12620782 C G rs767190677 SCIN Nonsynonymous SNV T151R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 240476 chr19 46388552 46388552 A G IRF2BP1 Synonymous SNV L161L 0.003 0 0 0 4 0 0 0 0 0 0 0 1.032 240477 chr19 4682715 4682715 G A DPP9 Nonsynonymous SNV P823S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 240478 chr2 113877676 113877676 G A IL1RN Nonsynonymous SNV G15E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.763 240479 chr9 134501432 134501432 T C RAPGEF1 Nonsynonymous SNV I527V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 240480 chr11 118916345 118916345 G A rs373526795 HYOU1 Nonsynonymous SNV S987L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.78 240481 chr9 135704084 135704084 C T rs199956942 AK8 Synonymous SNV T144T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 240482 chr8 133112324 133112324 G A rs372820713 HHLA1 Nonsynonymous SNV T66M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 240483 chr7 25176115 25176115 T C rs145041453 C7orf31 Nonsynonymous SNV T417A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 240484 chr2 121746507 121746507 G A GLI2 Nonsynonymous SNV G864D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.816 240485 chr9 136340569 136340569 C T rs149329547 SLC2A6 Nonsynonymous SNV D243N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.58 240486 chr7 100856430 100856430 G A rs149684440 PLOD3 Synonymous SNV Y245Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.327 240487 chr7 101740648 101740648 C T CUX1 Synonymous SNV P86P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 240488 chr7 103205778 103205778 C T rs144388452 RELN Synonymous SNV S1719S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 240489 chr2 135743552 135743552 C A MAP3K19 Stop gain E851X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 240490 chr7 103275961 103275961 A G rs398124191 RELN Synonymous SNV G792G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.518 240491 chr9 139272805 139272805 G A rs140262570 SNAPC4 Synonymous SNV H1158H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.13 240492 chr17 67025343 67025343 C T rs148542361 ABCA9 Nonsynonymous SNV A491T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.524 240493 chr11 124056820 124056820 A G rs760886316 OR10D3 Nonsynonymous SNV M282V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 240494 chr9 139902389 139902389 G A rs529532466 ABCA2 Nonsynonymous SNV L2435F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 240495 chr2 1481040 1481040 G C rs781491056 TPO Synonymous SNV P334P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.121 240496 chr9 139927607 139927607 G A rs138230192 C9orf139 Nonsynonymous SNV R31H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 240497 chr12 13717364 13717364 C T rs77493389 GRIN2B Synonymous SNV E936E 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 3.7 240498 chr9 140094495 140094495 G A rs1040744873 TPRN Synonymous SNV N223N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.2 240499 chr11 124495574 124495574 C T rs759915508 TBRG1 Synonymous SNV L77L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 240500 chr11 124496839 124496839 A T rs780117402 TBRG1 Nonsynonymous SNV I211F 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 240501 chr7 122338930 122338930 A T rs74327836 RNF133 Nonsynonymous SNV S15T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.324 240502 chr2 152563428 152563428 C T rs200914626 NEB Synonymous SNV R373R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.26 240503 chr15 69237985 69237985 C A SPESP1 Nonsynonymous SNV Q38K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 240504 chr15 69341310 69341310 C G NOX5 Nonsynonymous SNV I609M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 240505 chr2 160104975 160104975 C T rs148800045 WDSUB1 Nonsynonymous SNV R271K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 240506 chr7 132069999 132069999 T G PLXNA4 Nonsynonymous SNV H476P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.546 240507 chr2 169547547 169547547 C T rs34110122 CERS6 Nonsynonymous SNV P157S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 240508 chr9 34254384 34254384 C T rs146882840 KIF24 Synonymous SNV P1367P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 240509 chr11 14665759 14665759 C T rs766237369 PDE3B Synonymous SNV G46G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 240510 chr9 37529139 37529139 T C FBXO10 Nonsynonymous SNV H563R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 240511 chr9 5921155 5921155 T C rs763927477 KIAA2026 Nonsynonymous SNV Y1614C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.65 240512 chr8 196100 196100 C T ZNF596 Nonsynonymous SNV P418L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 240513 chr7 148802353 148802353 C T rs147026650 ZNF425 Nonsynonymous SNV D204N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 240514 chr15 86810252 86810252 C T rs369016709 AGBL1 Nonsynonymous SNV R595W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 240515 chr2 179453458 179453458 G A rs375006117 TTN Synonymous SNV Y11933Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.164 240516 chr9 77376672 77376672 C A rs149067218 TRPM6 Nonsynonymous SNV M1570I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 240517 chr17 7663221 7663221 G T rs372631936 DNAH2 Nonsynonymous SNV R917L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 240518 chr8 23002143 23002143 A G rs148758492 TNFRSF10D Synonymous SNV L258L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 240519 chr17 77758598 77758598 G A rs199566347 CBX2 Synonymous SNV A452A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.823 240520 chr17 78327887 78327887 C G RNF213 Nonsynonymous SNV D3549E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 240521 chr11 2683185 2683185 C T rs759714698 KCNQ1OT1 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.61 240522 chr9 98231460 98231460 A T rs777301513 LOC100507346 0 0 0.003 0 0 0 0 1 0 0 0 0 3.232 240523 chr8 2033399 2033399 C T rs148507317 MYOM2 Synonymous SNV D507D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.504 240524 chr8 42260930 42260930 G A rs751469875 VDAC3 Nonsynonymous SNV R219H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 240525 chrX 12904970 12904970 C T rs5743781 TLR7 Nonsynonymous SNV A448V 0.001 0.003 0.007 0 1 1 0 2 0 0 1 0 Benign 6.076 240526 chr16 11362728 11362728 C T rs200067174 TNP2 Nonsynonymous SNV R131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 240527 chr17 46002453 46002453 A G SP2 Nonsynonymous SNV E514G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 240528 chr8 55538921 55538921 G C rs770102852 RP1 Nonsynonymous SNV E827Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 240529 chr2 188332572 188332572 A G rs764350848 TFPI Nonsynonymous SNV I239T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 240530 chrX 149013341 149013341 C T MAGEA8 Nonsynonymous SNV P99S 0 0 0.007 0 0 0 0 2 0 0 1 0 10.31 240531 chr2 190437572 190437572 G A rs11568344 SLC40A1 Synonymous SNV L129L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 14.11 240532 chr11 4388855 4388855 A G rs779701505 OR52B4 Nonsynonymous SNV L224P 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 240533 chr8 10467571 10467571 C A RP1L1 Nonsynonymous SNV G1346V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.37 240534 chr19 56720433 56720433 A G rs762622132 ZSCAN5C Nonsynonymous SNV K452R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 240535 chr19 56720434 56720434 - GGGA rs764653634 ZSCAN5C Frameshift insertion A453Gfs*46 0.003 0 0 0 3 0 0 0 0 0 0 0 240536 chr19 56720437 56720440 AAAT - rs752291738 ZSCAN5C Stop gain N454* 0.003 0 0 0 3 0 0 0 0 0 0 0 240537 chr8 10755778 10755778 C T rs766971738 XKR6 Nonsynonymous SNV R537Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 240538 chrX 22051205 22051205 G A rs760556268 PHEX Nonsynonymous SNV G28S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.77 240539 chrX 35985827 35985827 A G rs201900093 CFAP47 Synonymous SNV Q564Q 0 0 0.007 0 0 0 0 2 0 0 1 0 0.033 240540 chr8 8560427 8560427 C A CLDN23 Synonymous SNV G173G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.98 240541 chr18 20833860 20833860 G A CABLES1 Nonsynonymous SNV G574E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 240542 chr8 17406189 17406189 C G rs747561709 SLC7A2 Nonsynonymous SNV L179V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 240543 chr2 202619365 202619365 G A rs766279865 ALS2 Nonsynonymous SNV R501W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 240544 chr16 22376328 22376328 T C rs755937707 CDR2 Synonymous SNV Q29Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.517 240545 chr17 56665311 56665311 G C rs749291306 TEX14 Stop gain S889X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 240546 chr16 24788310 24788310 G A rs369935611 TNRC6A Nonsynonymous SNV G74S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 240547 chr9 104124958 104124958 C A rs200963286 BAAT Nonsynonymous SNV A337S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 240548 chr10 101841326 101841326 G C CPN1 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.332 240549 chr2 215798851 215798851 G A rs146834697 ABCA12 Nonsynonymous SNV T2226I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 240550 chr17 62506289 62506289 A G CEP95 0.002 0 0 0 2 0 0 0 0 0 0 0 17.56 240551 chr8 25149612 25149612 C T rs748741297 DOCK5 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 240552 chr7 103969285 103969285 G A rs760321856 LHFPL3 Nonsynonymous SNV E20K 0 0.003 0 0 0 1 0 0 0 0 0 0 29 240553 chr16 30100381 30100381 C T rs139029506 TBX6 Synonymous SNV L168L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.121 240554 chr12 7303251 7303251 A G rs746373123 CLSTN3 Nonsynonymous SNV N786S 0 0.005 0 0 0 2 0 0 0 0 0 0 26 240555 chr17 65955798 65955798 C T BPTF Nonsynonymous SNV P2690S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.34 240556 chr12 7649548 7649548 G A rs138251842 CD163 Synonymous SNV N320N 0 0.005 0 0 0 2 0 0 0 0 0 0 5.893 240557 chr16 31097763 31097763 T C rs770056908 PRSS53 Synonymous SNV T186T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 240558 chr7 121624109 121624109 A C PTPRZ1 Nonsynonymous SNV Q289P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 240559 chr8 41566368 41566368 G A rs534680895 ANK1 Synonymous SNV A642A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.62 240560 chr2 225709490 225709490 C T DOCK10 Nonsynonymous SNV V844I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.519 240561 chr10 120863662 120863662 C A DENND10 Nonsynonymous SNV A3E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 240562 chr8 68140335 68140335 T C rs781692371 ARFGEF1 Nonsynonymous SNV M1152V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.501 240563 chr9 124118408 124118408 A G STOM Nonsynonymous SNV C30R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 240564 chr8 69032460 69032460 G T rs150704622 PREX2 Synonymous SNV G1178G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 240565 chr10 126136638 126136638 G C rs747180737 NKX1-2 Nonsynonymous SNV P98R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.035 240566 chr8 87242233 87242233 C A rs913031510 SLC7A13 Nonsynonymous SNV V92F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.062 240567 chr7 138525007 138525007 G A rs565452410 KIAA1549 Synonymous SNV H1823H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.6 240568 chr19 9086983 9086983 G T rs186319266 MUC16 Nonsynonymous SNV T1611K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.902 240569 chr17 7517800 7517800 C T FXR2 Synonymous SNV E17E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.22 240570 chr16 58043981 58043981 G A USB1 Synonymous SNV V138V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 240571 chr10 135011941 135011941 G A rs760314836 KNDC1 Synonymous SNV A669A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.616 240572 chr16 67315735 67315735 C T PLEKHG4 Stop gain R253X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 240573 chr9 132861783 132861783 C T rs41279172 GPR107 Nonsynonymous SNV T304I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 240574 chr8 124054270 124054270 G A DERL1 Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.718 240575 chr10 21178862 21178862 T C NEBL Nonsynonymous SNV E57G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 240576 chr1 11139828 11139828 C T rs774820562 EXOSC10 Synonymous SNV R563R 0.002 0 0 0 2 0 0 0 0 0 0 0 18 240577 chr7 154561189 154561189 G A DPP6 Nonsynonymous SNV A209T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 240578 chr2 24535238 24535238 T C rs373623979 ITSN2 Synonymous SNV L65L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.217 240579 chr13 28942737 28942739 GAT - rs371573097 FLT1 S733del 0.008 0.008 0 2 9 3 0.005 0 0 0 0 0 240580 chr8 125562065 125562065 C G rs148402231 NDUFB9 Nonsynonymous SNV R102G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 240581 chr8 131070318 131070318 T C rs754527590 ASAP1 Nonsynonymous SNV K1009R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 240582 chr9 135703430 135703430 A G rs370949050 AK8 Synonymous SNV L131L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 240583 chr9 136029512 136029512 T C rs147921910 GBGT1 Nonsynonymous SNV S149G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 240584 chr10 29698503 29698503 C A SVIL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.063 240585 chr10 31146609 31146609 T C ZNF438 Nonsynonymous SNV S3G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 240586 chr8 139691910 139691910 C T rs147847724 COL22A1 Nonsynonymous SNV G1008R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.507 240587 chr9 137726842 137726842 A G COL5A1 Nonsynonymous SNV N1721S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.45 240588 chr19 1468955 1468955 C T rs370778311 APC2 Synonymous SNV P1884P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 16.63 240589 chr8 6614685 6614685 A G rs147047494 AGPAT5 Nonsynonymous SNV M291V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 240590 chr2 29117627 29117627 C T WDR43 Synonymous SNV F21F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 240591 chr9 139259650 139259650 C T rs759571184 CARD9 Synonymous SNV G459G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.567 240592 chr8 10467581 10467581 - TTTAGTCCCCTCTAACTGCACCCCTTCTTCTTGCAGCCCTTCTTCTGT RP1L1 K1342_E1343insTEEGLQEEGVQLEGTK 0 0.003 0 0 0 1 0 0 0 0 0 0 240593 chr8 10467588 10467588 - CCC rs764951251 RP1L1 E1340_T1341insG 0 0.003 0 0 0 1 0 0 0 0 0 0 240594 chr8 10467589 10467589 - CTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC RP1L1 E1339_E1340insGTKVIEGLQEERVQL 0 0.003 0 0 0 1 0 0 0 0 0 0 240595 chr13 46705032 46705032 G A rs139573215 LCP1 Synonymous SNV I556I 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 15.65 240596 chr10 49420076 49420076 C T rs201886245 FRMPD2 Nonsynonymous SNV R486Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.733 240597 chr9 139657838 139657838 C A rs766564600 LCN15 Nonsynonymous SNV G130V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 240598 chr18 19070081 19070081 A G rs201325892 GREB1L Synonymous SNV T933T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.81 240599 chr11 6007200 6007200 C T rs182469194 OR52L1 Nonsynonymous SNV V321M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 240600 chr9 140123410 140123410 G A rs757764517 RNF224 Nonsynonymous SNV A115T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 240601 chr9 140327704 140327704 G A rs771279656 NOXA1 Nonsynonymous SNV A244T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.786 240602 chr8 22864732 22864732 A G rs201146480 RHOBTB2 Nonsynonymous SNV Q332R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.864 240603 chr8 145133661 145133661 G C rs779541092 EXOSC4 Nonsynonymous SNV Q10H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 240604 chr14 104624118 104624118 G A rs200755561 KIF26A Synonymous SNV A254A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.05 240605 chr11 619171 619171 G T rs767454065 CDHR5 Nonsynonymous SNV P463Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.12 240606 chr9 34257273 34257275 GGA - rs746386969 KIF24 L777del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 240607 chr9 34489414 34489414 C T rs370391949 DNAI1 Nonsynonymous SNV R119W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 34 240608 chr9 36217445 36217445 C A rs121908627 GNE Nonsynonymous SNV V586L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 240609 chr9 2718605 2718605 C G rs569992163 KCNV2 Nonsynonymous SNV S289W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 240610 chr9 38068557 38068557 T G SHB Nonsynonymous SNV E29A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 240611 chr17 1640706 1640706 G A WDR81 Synonymous SNV L648L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 240612 chr8 53548616 53548616 T C rs138520283 RB1CC1 Nonsynonymous SNV M1451V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.806 240613 chr11 65352516 65352516 C T EHBP1L1 Synonymous SNV I371I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 240614 chr9 77280435 77280435 C T RORB Synonymous SNV C319C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 240615 chr9 33472311 33472311 G A rs10971523 NOL6 Nonsynonymous SNV P52S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 240616 chr8 90967602 90967602 A G rs375885975 NBN Synonymous SNV L436L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 3.907 240617 chr11 6585844 6585844 G T DNHD1 Nonsynonymous SNV Q3522H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 240618 chr9 34311061 34311061 C T rs772997925 KIF24 Nonsynonymous SNV R95H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 240619 chr9 34380935 34380935 G A rs773598149 C9orf24 Nonsynonymous SNV R88C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 240620 chr8 94827660 94827660 A C rs16916221 TMEM67 Synonymous SNV T964T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.412 240621 chr2 98274712 98274712 G T rs769045495 ACTR1B Nonsynonymous SNV T242K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.1 240622 chr9 35370321 35370321 C T rs138697622 UNC13B Synonymous SNV A37A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 240623 chr8 95800137 95800137 T G rs146246430 DPY19L4 Nonsynonymous SNV S622A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.63 240624 chr9 89561453 89561453 C T GAS1 Nonsynonymous SNV G81E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 240625 chr10 99003804 99003804 G A rs141595671 ARHGAP19 Nonsynonymous SNV T340M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 240626 chr9 94495616 94495616 C T rs756285939 ROR2 Nonsynonymous SNV R242H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 240627 chr9 95068059 95068059 T C rs201153044 NOL8 Nonsynonymous SNV K922R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 240628 chr9 72520929 72520929 G A rs141342918 C9orf135 Synonymous SNV T90T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 240629 chr9 96320233 96320233 C T rs140826080 FAM120A Nonsynonymous SNV A869V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 240630 chrX 108638614 108638614 C T rs35726803 GUCY2F Nonsynonymous SNV E794K 0 0 0.01 2 0 0 0.005 3 0 0 0 1 33 240631 chr17 31324504 31324504 A G rs62068261 SPACA3 Nonsynonymous SNV M79V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 240632 chr1 167096337 167096337 A G rs144006881 DUSP27 Nonsynonymous SNV I657V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.83 240633 chr1 167097026 167097026 T A rs146541645 DUSP27 Nonsynonymous SNV D886E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.278 240634 chr11 7110870 7110870 C T rs559147307 RBMXL2 Synonymous SNV S173S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.185 240635 chr9 95256381 95256381 G T ECM2 Nonsynonymous SNV A639D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.683 240636 chr17 33738463 33738463 A G rs139010072 SLFN12 Nonsynonymous SNV L544P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 240637 chr8 126015418 126015418 C T rs188087180 SQLE Nonsynonymous SNV R98C 0 0.005 0 0 0 2 0 0 0 0 0 0 17.51 240638 chr8 134042188 134042188 G A TG Nonsynonymous SNV G2387S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.97 240639 chr9 97897654 97897654 C T rs143181565 FANCC Nonsynonymous SNV E273K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 240640 chr8 139164362 139164362 C T rs780676102 FAM135B Nonsynonymous SNV A786T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 240641 chr11 103191883 103191883 T A DYNC2H1 Nonsynonymous SNV S3951T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 240642 chr11 103191884 103191884 C A DYNC2H1 Stop gain S3951X 0 0 0.003 0 0 0 0 1 0 0 0 0 49 240643 chrX 140996148 140996148 G T rs188004514 MAGEC1 Synonymous SNV G986G 0 0 0 2 0 0 0.005 0 0 0 0 1 0.529 240644 chrX 14708912 14708912 G A rs139404975 GLRA2 Synonymous SNV A337A 0 0 0 2 0 0 0.005 0 0 0 0 1 11.56 240645 chr11 111365897 111365897 C T rs544902747 BTG4 Nonsynonymous SNV R218Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 240646 chr11 112050205 112050205 A C BCO2 Nonsynonymous SNV K64T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 240647 chr11 112832171 112832171 G T rs201971024 LOC101928847 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 240648 chr3 126724057 126724057 G A rs748705785 PLXNA1 Nonsynonymous SNV R623Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 240649 chr11 113725011 113725011 T C rs143026130 USP28 Nonsynonymous SNV Q35R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.3 240650 chr9 114538169 114538169 A T rs148914231 SHOC1 Nonsynonymous SNV V51E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 240651 chr9 116930157 116930157 C T rs201093507 COL27A1 Nonsynonymous SNV R108W 0.001 0 0 0 1 0 0 0 0 0 0 0 28 240652 chr11 119158632 119158632 A G rs760168148 CBL Nonsynonymous SNV N671S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 240653 chr3 133647422 133647422 C T rs752264285 C3orf36 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 240654 chr11 120929151 120929151 C T rs35380371 TBCEL Synonymous SNV T270T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.45 240655 chr19 16630096 16630096 G A rs61729416 CHERP Synonymous SNV D875D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.69 240656 chr11 12277214 12277214 G A rs147838643 MICAL2 Nonsynonymous SNV G768R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 240657 chr19 16884009 16884009 G C rs149897388 NWD1 Nonsynonymous SNV G622A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 24.9 240658 chr11 94554772 94554772 G A rs377110840 AMOTL1 Nonsynonymous SNV G350R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 240659 chr19 17000796 17000796 C T F2RL3 Synonymous SNV R174R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.26 240660 chr19 17036138 17036138 G T rs370777148 CPAMD8 Synonymous SNV R1139R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.84 240661 chr3 140265422 140265422 C T rs776997183 CLSTN2 Nonsynonymous SNV R525C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 240662 chr3 142180882 142180882 T C rs1018327125 ATR Synonymous SNV T2300T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.542 240663 chrX 9864435 9864435 G A rs778477756 SHROOM2 Synonymous SNV P829P 0 0 0 2 0 0 0.005 0 0 0 0 1 1.213 240664 chrX 9914835 9914835 A G SHROOM2 Nonsynonymous SNV E405G 0 0 0 2 0 0 0.005 0 0 0 0 1 25.7 240665 chrY 15362900 15362900 T C UTY Synonymous SNV T1255T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.945 240666 chr3 145788840 145788840 C T rs140079753 PLOD2 Nonsynonymous SNV E683K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 14.81 240667 chr11 125325762 125325762 C T rs559483840 FEZ1 Nonsynonymous SNV R303Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 240668 chr10 102005593 102005593 G C CWF19L1 Nonsynonymous SNV S172R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 240669 chr10 102058348 102058348 T - PKD2L1 Q187Hfs*85 0 0 0 1 0 0 0.003 0 0 0 0 0 240670 chr10 102247513 102247513 G A rs146717788 SEC31B Stop gain R1134X 0 0 0 1 0 0 0.003 0 0 0 0 0 44 240671 chr12 106466573 106466573 G C rs753998943 NUAK1 Nonsynonymous SNV Q210E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 240672 chr10 104163153 104163153 C T rs148732359 PSD Nonsynonymous SNV R960Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 240673 chr9 130869718 130869718 C T rs936575026 SLC25A25 Nonsynonymous SNV R503W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 240674 chr12 109629559 109629559 G A ACACB Synonymous SNV E762E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.314 240675 chr12 109629565 109629565 G A ACACB Synonymous SNV V764V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.72 240676 chr9 131600509 131600509 G A rs199904104 KYAT1 Synonymous SNV D113D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.704 240677 chr3 164714422 164714422 A G rs779692980 SI Synonymous SNV C1531C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.603 240678 chr9 21974813 21974813 G T CDKN2A Nonsynonymous SNV A5E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.806 240679 chr17 46685445 46685445 T C rs753094787 HOXB7 Nonsynonymous SNV K138R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 240680 chr3 176769428 176769428 T C rs61750379 TBL1XR1 Synonymous SNV Q10Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.547 240681 chr11 1857989 1857989 G T rs143303623 SYT8 Stop gain E245X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 37 240682 chr12 116460307 116460307 A G rs11067880 MED13L Synonymous SNV N193N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 7.175 240683 chr9 135203422 135203422 G T rs569695031 SETX Nonsynonymous SNV T1188N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 240684 chr10 1230824 1230824 G A rs137892593 ADARB2 Nonsynonymous SNV R674W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 240685 chr9 137979247 137979247 C A rs4604524 OLFM1 Nonsynonymous SNV R10S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.872 240686 chr12 122263206 122263206 G A SETD1B Synonymous SNV K1757K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.36 240687 chr12 122332696 122332696 C T rs146859499 PSMD9 Nonsynonymous SNV R64W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 240688 chr17 59821830 59821830 C A rs45589637 BRIP1 Nonsynonymous SNV Q740H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 240689 chr11 2950193 2950228 GGGTGCGGCGGCCGCGGCAGCCACGGCGTCCTCGGC - PHLDA2 A123_P134del 0 0 0.003 0 0 0 0 1 0 0 0 0 240690 chr11 3128545 3128545 G A rs373988366 OSBPL5 Nonsynonymous SNV P268L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 240691 chr9 139391525 139391525 C T rs202229687 NOTCH1 Synonymous SNV P2222P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.888 240692 chr3 195490949 195490949 C G MUC4 Nonsynonymous SNV V384L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.545 240693 chr17 62492721 62492721 C A rs781925329 POLG2 Nonsynonymous SNV R122S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.4 240694 chr12 124848243 124848243 C T rs201973229 NCOR2 Synonymous SNV A952A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.2 240695 chr9 94487056 94487056 C A rs140579674 ROR2 Nonsynonymous SNV V574L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 240696 chr9 140130678 140130678 G A rs146757110 SLC34A3 Nonsynonymous SNV R537H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.018 240697 chr11 43920109 43920109 G A rs62621391 SEC14L1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.643 240698 chr12 133159776 133159776 G A FBRSL1 Synonymous SNV A850A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 240699 chr3 33427019 33427019 C T rs754280378 FBXL2 Synonymous SNV H313H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 240700 chr3 36875237 36875237 C T rs372589106 TRANK1 Nonsynonymous SNV R1902Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 240701 chr12 133372612 133372612 C T rs757532397 GOLGA3 Synonymous SNV E765E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.69 240702 chr3 37458839 37458839 T G C3orf35 Nonsynonymous SNV C28G 0.001 0 0 0 1 0 0 0 0 0 0 0 18 240703 chr17 71257913 71257913 G A rs190105269 CPSF4L Synonymous SNV F15F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.732 240704 chr10 23326273 23326273 G A rs148054960 ARMC3 Nonsynonymous SNV M565I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.334 240705 chr10 25464446 25464446 G T GPR158 Nonsynonymous SNV D33Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 240706 chr17 72937602 72937602 C T rs762486784 OTOP3 Nonsynonymous SNV P45L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.108 240707 chr12 39701374 39701374 G C rs755587423 KIF21A Nonsynonymous SNV L1442V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.6 240708 chr1 242253166 242253166 C T rs147065464 PLD5 Nonsynonymous SNV R326Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.182 240709 chr3 47378132 47378132 G A rs753894234 KLHL18 Nonsynonymous SNV G336R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 240710 chr3 47454021 47454021 C T PTPN23 Synonymous SNV C1319C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 240711 chr3 48680242 48680242 C T rs146259597 CELSR3 Nonsynonymous SNV V2828I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 240712 chr9 126135806 126135806 C T rs763539330 CRB2 Nonsynonymous SNV P999L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 240713 chr12 48192630 48192630 G A rs201344787 HDAC7 Nonsynonymous SNV R49C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 240714 chr12 48358069 48358069 A C rs200250774 TMEM106C Nonsynonymous SNV K17T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.515 240715 chr17 76888319 76888319 G A rs72851220 CEP295NL Synonymous SNV G89G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.725 240716 chr17 7751170 7751170 C T rs768893856 KDM6B Nonsynonymous SNV R522C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 240717 chr15 75500994 75500994 C T C15orf39 Nonsynonymous SNV H869Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 240718 chr12 51639804 51639804 G T SMAGP Nonsynonymous SNV T72K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 240719 chr10 6063567 6063567 C T rs201188114 IL2RA Nonsynonymous SNV V153I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.001 240720 chr11 56408975 56408975 T C rs751896286 OR5AP2 Nonsynonymous SNV H314R 0 0 0.007 0 0 0 0 2 0 0 0 0 2.757 240721 chr12 52824440 52824440 G A rs758168793 KRT75 Nonsynonymous SNV S307F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.2 240722 chr19 6364479 6364479 G A rs376053962 CLPP Synonymous SNV A128A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 240723 chr10 70334002 70334002 C A TET1 Nonsynonymous SNV P636H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 240724 chr12 53069000 53069000 T C rs140098565 KRT1 Nonsynonymous SNV T638A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 18.26 240725 chr11 57512184 57512184 C G rs752241282 BTBD18 Nonsynonymous SNV G521R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 240726 chr11 59132638 59132638 C G OR5AN1 Nonsynonymous SNV S236C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 240727 chr19 8651584 8651584 G A rs142353301 ADAMTS10 Nonsynonymous SNV S241F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.5 240728 chr19 8656994 8656994 G C rs11882422 ADAMTS10 Nonsynonymous SNV P18R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.197 240729 chr19 5150405 5150405 C T rs148375932 KDM4B Nonsynonymous SNV R1020C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 240730 chr1 43738862 43738862 T G TMEM125 Nonsynonymous SNV L157V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 240731 chr12 56865289 56865289 G A rs142929613 GLS2 Synonymous SNV N332N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.402 240732 chr9 140508136 140508136 C T rs140006356 ARRDC1 Nonsynonymous SNV T117M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 240733 chr18 14124364 14124364 T G rs192743927 ZNF519 Nonsynonymous SNV N39H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.68 240734 chr12 57828848 57828848 G A rs142770750 INHBC Nonsynonymous SNV R60H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 240735 chr4 119951227 119951227 T A rs200146493 SYNPO2 Nonsynonymous SNV C433S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 240736 chr11 62382196 62382196 G A rs368502798 ROM1 Nonsynonymous SNV G314E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 240737 chr4 123252683 123252683 A G rs200815655 KIAA1109 Nonsynonymous SNV I3818V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.25 240738 chr11 62931317 62931317 A G rs753057186 SLC22A25 Synonymous SNV P541P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.255 240739 chr12 6637163 6637163 C G rs766817718 NCAPD2 Nonsynonymous SNV L1017V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 240740 chr11 63988044 63988044 C T rs561391251 FERMT3 Nonsynonymous SNV P483L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 240741 chr10 13336485 13336485 C T rs145263836 PHYH Synonymous SNV T19T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 240742 chr10 100995502 100995502 - G rs778121647 HPSE2 Frameshift insertion A20Rfs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 240743 chr4 148575068 148575068 T C PRMT9 Nonsynonymous SNV I355M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 240744 chr19 54652472 54652472 G C rs748576550 CNOT3 Nonsynonymous SNV S467T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.27 240745 chr1 55253434 55253434 G A rs753225414 TTC22 Nonsynonymous SNV T230M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 240746 chr10 24820896 24820896 G A rs145209815 KIAA1217 Nonsynonymous SNV G757S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.809 240747 chr10 27458904 27458904 T A rs144503451 MASTL Nonsynonymous SNV M339K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.153 240748 chr4 158242658 158242658 G A rs34909207 GRIA2 Synonymous SNV V263V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.19 240749 chr4 159836437 159836437 A G rs201167295 C4orf45 Nonsynonymous SNV F144S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 240750 chr12 89885773 89885773 A G rs780961965 POC1B Nonsynonymous SNV M89T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.92 240751 chr1 6341183 6341183 C A rs761328381 ACOT7 Synonymous SNV S331S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 240752 chr11 67176903 67176903 G T TBC1D10C Nonsynonymous SNV R239L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 240753 chr16 2987289 2987289 G A rs117763371 FLYWCH1 Nonsynonymous SNV V561I 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 24 240754 chr10 123985965 123985965 C G rs188626786 TACC2 Nonsynonymous SNV R643G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 240755 chr13 101184421 101184421 G A rs61747479 GGACT Nonsynonymous SNV P142L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.38 240756 chr19 5749119 5749119 T C rs200979286 CATSPERD Synonymous SNV N304N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.013 240757 chr10 126694313 126694313 C T rs199944812 CTBP2 Nonsynonymous SNV S22N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.278 240758 chr10 126715118 126715118 C T rs185994757 CTBP2 Nonsynonymous SNV R404H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 240759 chr4 186570648 186570648 C T rs757943320 SORBS2 Nonsynonymous SNV R85Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 240760 chr13 103438653 103438653 G A rs755276952 POGLUT2 Stop gain R474X 0 0 0 1 0 0 0.003 0 0 0 0 0 47 240761 chr19 5783514 5783514 C T rs143206357 PRR22 Synonymous SNV P248P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.789 240762 chr16 3297136 3297136 C T rs61732424 MEFV Synonymous SNV Q278Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign/Likely benign 0.344 240763 chr13 103718253 103718253 G A rs201133082 SLC10A2 Nonsynonymous SNV A116V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 22.6 240764 chr19 57967428 57967428 T C rs775403015 VN1R1 Nonsynonymous SNV N143D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.3 240765 chr11 111796706 111796706 C T rs781852399 C11orf52 Nonsynonymous SNV T52M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.579 240766 chr11 111796926 111796926 G A rs782058385 HSPB2-C11orf52 0 0 0 1 0 0 0.003 0 0 0 0 0 3.514 240767 chr13 111329353 111329353 C T rs149601283 CARS2 Synonymous SNV P251P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.53 240768 chr11 78600910 78600910 T C rs531838713 TENM4 Nonsynonymous SNV K335R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 240769 chr16 4625672 4625672 A T rs755063359 C16orf96 Nonsynonymous SNV Q397H 0 0.005 0 0 0 2 0 0 0 0 0 0 11.18 240770 chr11 113560566 113560566 C T rs753218506 TMPRSS5 Nonsynonymous SNV R314H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.04 240771 chr1 12254079 12254079 C A rs201648206 TNFRSF1B Synonymous SNV T285T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 240772 chr19 7687537 7687537 G A rs367588563 XAB2 Nonsynonymous SNV A461V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 240773 chr13 30077217 30077217 G A rs7986532 MTUS2 Synonymous SNV E307E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.148 240774 chr10 73767820 73767820 A G rs777739643 CHST3 Nonsynonymous SNV N344S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 240775 chr16 602672 602672 C T rs79942802 CAPN15 Synonymous SNV Y935Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.104 240776 chr12 101689333 101689333 C T UTP20 Synonymous SNV L443L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 240777 chr12 102517751 102517751 A G PARPBP Nonsynonymous SNV T29A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 240778 chr12 10282631 10282631 T C rs757257685 CLEC7A Synonymous SNV Q17Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.433 240779 chr19 1465448 1465448 C G rs545754702 APC2 Synonymous SNV P715P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.723 240780 chr16 67282964 67282964 C G SLC9A5 Nonsynonymous SNV A16G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.93 240781 chr1 15541635 15541635 G A rs777441847 TMEM51 Nonsynonymous SNV G18S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 240782 chr13 45517619 45517619 C T rs776967467 NUFIP1 Synonymous SNV T443T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.48 240783 chr13 46357652 46357652 C T SIAH3 Nonsynonymous SNV D226N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 240784 chr12 109577344 109577344 A G rs139767464 ACACB Nonsynonymous SNV Q45R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.073 240785 chr16 70699378 70699378 G T rs774129929 MTSS2 Synonymous SNV S373S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.27 240786 chr16 71220702 71220702 T C rs75357093 HYDIN Nonsynonymous SNV S60G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.74 240787 chr19 9066083 9066083 G C rs114436811 MUC16 Synonymous SNV S7121S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 240788 chr20 20340872 20340872 A G rs75487354 CFAP61 Nonsynonymous SNV I1178V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.045 240789 chr13 58207460 58207460 A G rs142476974 PCDH17 Synonymous SNV T260T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 240790 chr12 113532644 113532644 C T DTX1 Synonymous SNV G426G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 240791 chr19 1753906 1753906 G A rs776318280 ONECUT3 Nonsynonymous SNV G82E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.912 240792 chr13 86369006 86369006 G A rs200014932 SLITRK6 Synonymous SNV C546C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.003 240793 chr10 103587638 103587638 C T KCNIP2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 240794 chr10 103826383 103826383 T C rs200681093 HPS6 Synonymous SNV F384F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.094 240795 chr13 99947473 99947473 G A rs771384072 GPR183 Synonymous SNV F309F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.945 240796 chr20 31878794 31878794 A T rs202131157 BPIFB1 Nonsynonymous SNV M133L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 240797 chr11 134131678 134131678 C T rs372521286 ACAD8 Nonsynonymous SNV A329V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.7 240798 chr19 18288033 18288033 C T rs368965492 IFI30 Synonymous SNV H189H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 240799 chr1 109815544 109815544 G A rs768781547 CELSR2 Nonsynonymous SNV E2745K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 240800 chr11 17630717 17630717 C T OTOG Synonymous SNV L1451L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 240801 chr12 132326281 132326281 G A rs76305475 MMP17 Synonymous SNV P273P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.054 240802 chr11 18637114 18637114 T C SPTY2D1 Nonsynonymous SNV E236G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.2 240803 chr4 88535500 88535500 T C rs769091294 DSPP Synonymous SNV D562D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 240804 chr4 89385062 89385062 A G rs751272883 HERC5 Synonymous SNV S279S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 240805 chr12 133808183 133808183 G A rs780403556 ANHX Synonymous SNV N99N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 240806 chr16 87637896 87637896 - CTGCTGCTG JPH3 A157_V158insAAA 0 0.003 0 0 0 1 0 0 0 0 0 0 240807 chr14 20586509 20586509 C T rs748536763 OR4K17 Nonsynonymous SNV P287L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 240808 chr19 32083728 32083728 C T rs763496336 THEG5 Nonsynonymous SNV P77L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 240809 chr16 88803089 88803089 G A rs775374625 PIEZO1 Synonymous SNV L418L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.004 240810 chr10 124895865 124895865 C A HMX3 Nonsynonymous SNV A100E 0 0.003 0 0 0 1 0 0 0 0 0 0 31 240811 chr10 127569348 127569348 G A rs150040675 DHX32 Nonsynonymous SNV R16C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.2 240812 chr1 1396197 1396197 G A rs201260974 ATAD3C Nonsynonymous SNV V294M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 240813 chr12 32875562 32875562 G A rs371660963 DNM1L Synonymous SNV S155S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 240814 chr19 35434572 35434572 C T rs369399040 ZNF30 Synonymous SNV C235C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.354 240815 chr12 40645328 40645328 T C rs751266778 LRRK2 Nonsynonymous SNV I388T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 240816 chr20 48497544 48497544 G A SLC9A8 Synonymous SNV P430P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 240817 chr1 145581564 145581564 G T PIAS3 Nonsynonymous SNV G382V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 240818 chr19 35790554 35790554 G T rs200640485 MAG Nonsynonymous SNV E146D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.353 240819 chr11 34188905 34188905 A C rs779069664 ABTB2 Synonymous SNV V552V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.72 240820 chr14 24035548 24035548 C T rs150816856 AP1G2 Nonsynonymous SNV R8Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.4 240821 chr10 135086871 135086871 C T rs776867006 ADAM8 Nonsynonymous SNV V115M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.006 240822 chr1 151502428 151502428 G A rs767053366 CGN Nonsynonymous SNV R717Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 240823 chr12 49047936 49047936 T A rs199824957 KANSL2 Nonsynonymous SNV D457V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 240824 chr19 36431259 36431259 G A rs201546784 LRFN3 Nonsynonymous SNV R311Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 240825 chr20 57485006 57485006 A G GNAS Synonymous SNV R265R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 240826 chr1 153277491 153277491 A G rs145310495 PGLYRP3 Nonsynonymous SNV I103T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.501 240827 chr17 15995222 15995222 T C rs200816750 NCOR1 Nonsynonymous SNV T898A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.075 240828 chr1 154987839 154987839 G A ZBTB7B Nonsynonymous SNV E235K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 240829 chr19 37917251 37917251 G A rs374033929 ZNF569 Synonymous SNV I15I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 240830 chr19 38055908 38055908 A G rs370472937 ZNF571 Synonymous SNV Y474Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.556 240831 chr1 155169837 155169837 G A rs146879343 THBS3 Synonymous SNV D472D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.936 240832 chr11 4790682 4790682 C T rs74052100 OR51F1 Nonsynonymous SNV V163I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.001 240833 chr14 50074820 50074820 C T rs140364791 LRR1 Stop gain R329X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 38 240834 chr1 19203999 19203999 C A rs142969512 ALDH4A1 Nonsynonymous SNV A290S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.6 240835 chr1 19510596 19510596 C T rs146261737 UBR4 Nonsynonymous SNV R671Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 23.4 240836 chr5 140788064 140788066 AGA - rs566994950 PCDHGB6 R101del 0.003 0.005 0 0 4 2 0 0 0 0 0 0 240837 chr1 197071664 197071664 C G rs147100928 ASPM Synonymous SNV L2239L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.992 240838 chr1 19992269 19992269 C T rs762619989 HTR6 Nonsynonymous SNV T8I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.627 240839 chr1 20005587 20005587 C T rs201409930 HTR6 Nonsynonymous SNV S350L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 240840 chr1 20005744 20005744 C T rs199504026 HTR6 Synonymous SNV G402G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 240841 chr1 20005854 20005854 C T rs61733142 HTR6 Nonsynonymous SNV T439M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.09 240842 chr11 17580144 17580144 C T rs780285643 OTOG Synonymous SNV Y364Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 240843 chr12 53804725 53804725 G T SP1 Nonsynonymous SNV A639S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 240844 chr12 54403466 54403466 C T rs765067304 HOXC8 Nonsynonymous SNV S133L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 240845 chr12 54686983 54686983 A G rs777833794 NFE2 Synonymous SNV Y99Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.051 240846 chr11 19077740 19077740 G A rs757306575 MRGPRX2 Synonymous SNV S70S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.563 240847 chr14 59113014 59113014 A G DACT1 Nonsynonymous SNV Q521R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.797 240848 chr12 57113680 57113680 G C rs779248908 NACA Nonsynonymous SNV S545C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 240849 chr14 64428315 64428315 A T SYNE2 Nonsynonymous SNV D287V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 12.95 240850 chr11 4881079 4881079 G A rs74054606 OR51H1 Nonsynonymous SNV T239I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.4 240851 chr11 4929186 4929186 T C rs7108654 OR51A7 Nonsynonymous SNV V196A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.678 240852 chr11 4929448 4929448 G A rs7119629 OR51A7 Synonymous SNV P283P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.077 240853 chr11 4936721 4936721 C T rs60718970 OR51G2 Nonsynonymous SNV R58H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 20.6 240854 chr11 5010937 5010937 A G rs78462092 MMP26 Synonymous SNV T53T 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 0.048 240855 chr11 5020241 5020241 T C rs113317534 OR51L1 Nonsynonymous SNV V10A 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.002 240856 chr11 5020707 5020707 G A rs113206396 OR51L1 Synonymous SNV L165L 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 5.253 240857 chr11 5020824 5020824 A C rs767969723 OR51L1 Synonymous SNV V204V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.002 240858 chr12 64472759 64472759 T C SRGAP1 Nonsynonymous SNV Y396H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 240859 chr21 34113882 34113882 - T rs531037686 PAXBP1 Frameshift insertion E796Rfs*58 0.002 0 0 0 2 0 0 0 0 0 0 0 240860 chr12 6602122 6602122 G A MRPL51 Synonymous SNV I32I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.953 240861 chr14 65259742 65259742 A T rs770698912 SPTB Nonsynonymous SNV L880Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 240862 chr1 204923406 204923406 C A rs147387188 NFASC Nonsynonymous SNV D96E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 240863 chr5 156378763 156378763 G A rs138383727 TIMD4 Nonsynonymous SNV R147C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 240864 chr12 6837472 6837472 G A rs758306221 COPS7A Nonsynonymous SNV V108I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 240865 chr5 156675967 156675967 C T rs34482255 ITK Nonsynonymous SNV R581W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 240866 chr11 1651124 1651124 C A KRTAP5-5 Synonymous SNV G18G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.795 240867 chr12 7088721 7088721 C T LPCAT3 Nonsynonymous SNV R233H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 240868 chr5 161128639 161128639 T A GABRA6 Nonsynonymous SNV S408T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 240869 chr11 47605895 47605895 G A rs377323760 NDUFS3 Synonymous SNV V219V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.88 240870 chr19 45028231 45028231 G A rs36053277 CEACAM20 Nonsynonymous SNV T87I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.75 240871 chr5 175306904 175306904 G A CPLX2 Synonymous SNV E87E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 240872 chr21 44838257 44838257 G C SIK1, SIK1B Nonsynonymous SNV L543V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 240873 chr19 45567387 45567387 - GCCGCTGCT CLASRP A286_S287insAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 240874 chr12 89917131 89917131 G A GALNT4, POC1B-GALNT4 Nonsynonymous SNV P399L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 240875 chr14 78374211 78374211 G T ADCK1 Synonymous SNV G201G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.76 240876 chr14 90450886 90450886 G A rs34452707 TDP1 Nonsynonymous SNV R304Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.5 240877 chr1 220808814 220808814 C T rs56109453 MARK1 Synonymous SNV L385L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 240878 chr5 179298496 179298496 A G TBC1D9B Nonsynonymous SNV I817T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 240879 chr13 100955204 100955204 A G rs41281120 PCCA Synonymous SNV P338P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.126 240880 chr1 223568115 223568115 G A rs560005249 CCDC185 Nonsynonymous SNV R433Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 240881 chr14 94722866 94722866 T C rs144855984 PPP4R4 Synonymous SNV L564L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.135 240882 chr13 103382224 103382224 T C rs190867203 CCDC168 Synonymous SNV Q6941Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 240883 chr1 179981078 179981078 A G CEP350 Nonsynonymous SNV I421V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 240884 chr15 100272052 100272052 C G LYSMD4 Nonsynonymous SNV G22A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.32 240885 chr19 49398279 49398279 C T rs373254271 TULP2 Nonsynonymous SNV G164S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 240886 chr17 4027271 4027271 G A rs115351587 ZZEF1 Synonymous SNV S143S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 240887 chr17 4060358 4060358 A G rs138389686 CYB5D2 Synonymous SNV T147T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.68 240888 chr22 19956103 19956103 C T rs769932706 COMT Synonymous SNV N170N 0.003 0 0 0 4 0 0 0 0 0 0 0 13.46 240889 chr15 30012613 30012613 T G rs202084418 TJP1 Synonymous SNV P904P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 4.209 240890 chr15 31453136 31453136 G A rs367857294 TRPM1 Synonymous SNV L9L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.84 240891 chr11 5758650 5758650 C T rs145949953 OR56B1 Nonsynonymous SNV L302F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.16 240892 chr15 33916190 33916190 C T RYR3 Nonsynonymous SNV A847V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 240893 chr15 40398106 40398106 C T rs767140552 BMF Nonsynonymous SNV R61Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 240894 chr11 57511976 57511976 C T rs751365973 BTBD18 Nonsynonymous SNV R590H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 240895 chr11 60233623 60233635 TGTTCTTGGTAAG - rs751782943 MS4A1 L189Rfs*22 0 0 0 3 0 0 0.008 0 0 0 0 0 240896 chr11 6023475 6023475 G C rs141151096 OR56A4 Nonsynonymous SNV L250V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.2 240897 chr11 60511311 60511311 C G rs768562339 MS4A18 Synonymous SNV V347V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.859 240898 chr11 10624695 10624695 C T rs373962690 MRVI1 Nonsynonymous SNV R301Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 240899 chr1 245850988 245850988 C T rs200000695 KIF26B Nonsynonymous SNV S1568L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.154 240900 chr17 48940455 48940455 A G TOB1 Synonymous SNV D169D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 240901 chr11 61914308 61914308 G A rs745473433 INCENP Nonsynonymous SNV R709H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 240902 chr11 17136001 17136001 T C rs763747840 PIK3C2A Synonymous SNV Q696Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.791 240903 chr14 100801259 100801259 C G WARS Nonsynonymous SNV V416L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 240904 chr11 62751983 62751983 G A rs11568630 SLC22A6 Synonymous SNV N60N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.417 240905 chr14 101438440 101438440 T G rs753402819 SNORD114-14 0 0 0.003 0 0 0 0 1 0 0 0 0 5.378 240906 chr1 207791422 207791422 C T CR1 Nonsynonymous SNV P1849L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.33 240907 chr1 208225712 208225712 C T rs371995694 PLXNA2 Nonsynonymous SNV V985M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 240908 chr15 52404762 52404782 GGCGGCCGCGGAGCGCAGCAC - BCL2L10 V48_A54del 0 0 0 1 0 0 0.003 0 0 0 0 0 240909 chr11 17742912 17742912 G A rs761412112 MYOD1 Nonsynonymous SNV V274M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.83 240910 chr11 63766457 63766457 G T rs369497656 MACROD1 Synonymous SNV R315R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 240911 chr11 64035016 64035016 C T rs558208019 PLCB3 Synonymous SNV N1164N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 240912 chr5 89981750 89981750 C T rs775107694 ADGRV1 Nonsynonymous SNV T2143I 0.001 0 0 0 1 0 0 0 0 0 0 0 22 240913 chr11 27384706 27384706 G A rs140982527 CCDC34 Synonymous SNV P12P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.391 240914 chr11 65061709 65061709 G A rs191375625 POLA2 Nonsynonymous SNV D444N 0 0 0 1 0 0 0.003 0 0 0 0 0 23 240915 chr11 65321820 65321820 G A rs752022340 LTBP3 Synonymous SNV G121G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.22 240916 chr11 65350903 65350903 G C rs770611619 EHBP1L1 Nonsynonymous SNV E920D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.61 240917 chr11 66475741 66475741 G A rs143596433 SPTBN2 Synonymous SNV H407H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.371 240918 chr11 6567971 6567971 G A DNHD1 Synonymous SNV A1934A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.323 240919 chr11 67079303 67079303 G A rs151267958 SSH3 Nonsynonymous SNV R642Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 240920 chr14 21511619 21511619 T C rs774892324 RNASE7 Synonymous SNV L156L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.263 240921 chr6 109775434 109775434 G C MICAL1 Nonsynonymous SNV S8C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.841 240922 chr11 66138775 66138775 G A rs200329495 SLC29A2 Synonymous SNV S17S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.33 240923 chr11 66190320 66190320 - CCTGGC rs773380693 NPAS4 L36_P37insAL 0 0 0 1 0 0 0.003 0 0 0 0 0 240924 chr11 66475260 66475260 G A rs529823815 SPTBN2 Synonymous SNV V460V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 240925 chr11 66627488 66627488 C T rs201187828 LRFN4 Nonsynonymous SNV P577L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 240926 chr17 7129590 7129590 C T DVL2 Nonsynonymous SNV G602E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 240927 chr1 228109528 228109528 C T rs201645372 WNT9A Synonymous SNV E263E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.755 240928 chr11 67159676 67159676 C T RAD9A Nonsynonymous SNV L27F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.7 240929 chr11 70332535 70332535 C T SHANK2 Nonsynonymous SNV R700Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 240930 chr15 75113011 75113011 C T rs140910102 LMAN1L Synonymous SNV L270L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.932 240931 chr11 67400531 67400531 A G rs774736258 TBX10 Nonsynonymous SNV V198A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 240932 chr11 71948779 71948779 G A rs200679872 INPPL1 Nonsynonymous SNV R1164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 240933 chr11 72983407 72983407 C T rs955574458 P2RY6 Synonymous SNV R55R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.43 240934 chr11 68115486 68115486 A G rs78219242 LRP5 Nonsynonymous SNV K88R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.78 240935 chr11 68115682 68115682 G A rs78844574 LRP5 Synonymous SNV P153P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 12.26 240936 chr14 24788347 24788347 G A rs149547221 ADCY4 Synonymous SNV D971D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 240937 chr1 228560535 228560535 G A rs770154815 OBSCN Synonymous SNV T7352T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.08 240938 chr15 79254524 79254524 C T rs138085895 RASGRF1 Nonsynonymous SNV E478K 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 240939 chr19 59059519 59059519 A C rs61738781 TRIM28 Nonsynonymous SNV N358T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 240940 chr19 6452462 6452462 C T rs932350093 SLC25A23 Nonsynonymous SNV R311Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 240941 chr11 70279775 70279775 C T rs138763797 CTTN Synonymous SNV Y452Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.27 240942 chr11 70319533 70319533 A G rs150857128 SHANK2 Nonsynonymous SNV I1076T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.19 240943 chr2 103053770 103053770 G A rs750300218 IL18RAP Synonymous SNV S226S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.03 240944 chr1 39924880 39924880 C T rs774326766 MACF1 Nonsynonymous SNV R5048W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 240945 chr6 1390276 1390276 - CCG FOXF2 A41_P42insA 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 240946 chr15 86278308 86278308 C T rs369617568 AKAP13 Synonymous SNV V1077V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 240947 chr11 74648064 74648064 G T XRRA1 Synonymous SNV P48P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.175 240948 chr11 76944163 76944163 C T GDPD4 Stop gain W432X 0 0 0 1 0 0 0.003 0 0 0 0 0 46 240949 chr1 45307534 45307534 G C rs755258246 PTCH2 Nonsynonymous SNV Q84E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 240950 chr6 151055039 151055039 G C rs147707807 PLEKHG1 Synonymous SNV T133T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.805 240951 chr14 55226977 55226977 C T rs781468660 SAMD4A Synonymous SNV P16P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 240952 chr14 57938093 57938093 C A rs201407662 CCDC198 Stop gain E290X 0 0 0.007 0 0 0 0 2 0 0 0 0 40 240953 chr2 127864490 127864490 C T rs35535012 BIN1 Synonymous SNV T10T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 240954 chr1 242042399 242042399 G A rs183863413 EXO1 Synonymous SNV T621T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 6.744 240955 chr6 152621818 152621818 G A rs144418713 SYNE1 Synonymous SNV R5809R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.6 240956 chr15 91455380 91455380 C T rs143769441 MAN2A2 Synonymous SNV H739H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.18 240957 chr14 64656876 64656876 T C rs772035517 SYNE2 Nonsynonymous SNV S5987P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 240958 chr11 86106448 86106448 T C rs756302629 CCDC81 Nonsynonymous SNV F120L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.54 240959 chr14 65520053 65520053 G A rs775704394 CHURC1-FNTB, FNTB Synonymous SNV L351L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 240960 chr15 99715333 99715333 G A TTC23 Nonsynonymous SNV P263S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 240961 chr16 1129190 1129190 G A rs752059474 SSTR5 Nonsynonymous SNV G108S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 240962 chr11 93463232 93463232 C A CEP295 Nonsynonymous SNV A2562D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 240963 chr11 118134842 118134842 C T rs754716119 MPZL2 Synonymous SNV A9A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 240964 chr16 1270753 1270753 G C CACNA1H Nonsynonymous SNV G2268A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.4 240965 chr11 118897689 118897689 G A rs781784543 SLC37A4 Stop gain Q248X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 38 240966 chr6 167549983 167549983 G A rs138813075 CCR6 Nonsynonymous SNV A89T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 240967 chr11 119065687 119065687 C T rs377011525 CCDC153 Nonsynonymous SNV E28K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 240968 chr11 120980007 120980007 G C rs138646574 TECTA Nonsynonymous SNV V96L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 240969 chr19 9929224 9929224 G A FBXL12 Synonymous SNV Y52Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.341 240970 chr14 81380743 81380743 G A rs943488981 CEP128 Nonsynonymous SNV R53W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 240971 chr18 10714830 10714830 G A rs191626967 PIEZO2 Synonymous SNV P1727P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 6.031 240972 chr16 1608118 1608121 TCTG - IFT140 D738Efs*47 0 0 0 1 0 0 0.003 0 0 0 0 0 240973 chr1 6646792 6646792 G A rs368975120 ZBTB48 Nonsynonymous SNV R361Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 240974 chr16 20329667 20329667 C T GP2 Nonsynonymous SNV E218K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 240975 chr1 76378572 76378572 A G rs777625147 MSH4 Synonymous SNV X937X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.111 240976 chr14 95108208 95108208 C T rs760183352 SERPINA13P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.566 240977 chr16 21636270 21636270 A G rs146761227 METTL9 Synonymous SNV E195E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.107 240978 chr14 96781906 96781906 C T rs910782602 ATG2B Nonsynonymous SNV V1126M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 240979 chr14 98218125 98218125 C A LINC02312 0 0 0.003 0 0 0 0 1 0 0 0 0 7.62 240980 chr1 878744 878744 G C rs138897766 SAMD11 Nonsynonymous SNV G559A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 240981 chr16 2546485 2546485 G A TBC1D24 Synonymous SNV G112G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.027 240982 chr11 134018708 134018708 G A rs748905480 JAM3 Nonsynonymous SNV E247K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 240983 chr16 28912072 28912072 C T rs754620899 ATP2A1 Synonymous SNV N520N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.36 240984 chr15 25231044 25231044 C T rs767084045 PWAR5 0 0 0.003 0 0 0 0 1 0 0 0 0 6.56 240985 chr15 27125993 27125993 C T rs200114860 GABRA5 Synonymous SNV G29G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 240986 chr2 186657138 186657138 G A FSIP2 Nonsynonymous SNV E1759K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 240987 chr12 5153915 5153915 G A rs765380398 KCNA5 Nonsynonymous SNV R201H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 240988 chr12 5744454 5744454 G A rs370127571 ANO2 Synonymous SNV A560A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 240989 chr1 14107467 14107467 C T rs771661818 PRDM2 Synonymous SNV S858S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.269 240990 chr12 121426790 121426790 G A rs201095611 HNF1A Nonsynonymous SNV A161T 0 0 0.01 1 0 0 0.003 3 0 0 0 0 Uncertain significance 31 240991 chr15 40586468 40586468 G A rs200020289 PLCB2 Nonsynonymous SNV T683M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 240992 chr16 3634793 3634793 C T rs372472816 SLX4 Synonymous SNV P1572P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 16.56 240993 chr6 43571679 43571679 T C rs147712217 POLH Nonsynonymous SNV I148T 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.1 240994 chr16 3646167 3646167 C T rs200013924 SLX4 Synonymous SNV S637S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.485 240995 chr16 3707257 3707257 C T rs148373909 DNASE1 Nonsynonymous SNV R207C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 35 240996 chr15 41280073 41280073 G A rs375440319 INO80 Nonsynonymous SNV L1224F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 240997 chr1 45476652 45476652 C T rs765354435 HECTD3 Nonsynonymous SNV R93H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 240998 chr6 46107595 46107595 C T rs77776444 ENPP4 Nonsynonymous SNV S92F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 240999 chr16 4455501 4455501 C T rs753464714 CORO7, CORO7-PAM16 Synonymous SNV T100T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.27 241000 chr15 42143053 42143053 T C rs778711994 SPTBN5 Synonymous SNV A3640A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.331 241001 chr16 461367 461367 C G DECR2 Nonsynonymous SNV P223R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.095 241002 chr15 43654069 43654069 C A rs138731321 ZSCAN29 Nonsynonymous SNV R587S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.16 241003 chr12 132326314 132326314 C T rs73162905 MMP17 Synonymous SNV Y284Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.426 241004 chr15 43827353 43827353 G A rs190919087 PPIP5K1 Nonsynonymous SNV A1207V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.754 241005 chr15 44084282 44084282 A C rs6493090 SERF2-C15ORF63 0 0 0.02 0 0 0 0 6 0 0 3 0 18.56 241006 chr12 132633431 132633431 T C NOC4L Nonsynonymous SNV C298R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 241007 chr15 48063857 48063857 A T rs778995863 SEMA6D Nonsynonymous SNV S971C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 241008 chr15 48427135 48427135 A G rs201321591 SLC24A5 Nonsynonymous SNV S182G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 241009 chr16 57761258 57761258 A G DRC7 Synonymous SNV T646T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.002 241010 chr16 57954424 57954424 C T rs200720590 CNGB1 Synonymous SNV T550T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.61 241011 chr16 57996478 57996478 - GGGCCTCAA rs756431055 CNGB1 A149_Q150insLEA 0 0 0 1 0 0 0.003 0 0 0 0 0 241012 chr15 51503075 51503075 G A rs763421146 CYP19A1 Nonsynonymous SNV P481L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 241013 chr6 71003977 71003977 - A COL9A1 Stop gain D197* 0.001 0 0 0 1 0 0 0 0 0 0 0 241014 chr6 7369026 7369026 G A rs774184495 CAGE1 Synonymous SNV I497I 0.002 0 0 0 2 0 0 0 1 0 0 0 11.65 241015 chr6 7575014 7575014 C T rs150339369 DSP Nonsynonymous SNV R808C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 241016 chr20 31024288 31024288 C T rs971677757 ASXL1 Nonsynonymous SNV A1197V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 241017 chr6 76024033 76024033 G A rs773928620 FILIP1 Synonymous SNV T505T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.907 241018 chr6 7606411 7606411 G C rs139179081 SNRNP48 Synonymous SNV S318S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 241019 chr6 76731868 76731868 C T rs140678692 IMPG1 Nonsynonymous SNV D133N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.873 241020 chr15 58983312 58983312 G A HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.494 241021 chr11 93486909 93486909 A - rs779420019 C11orf54 N54Tfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 241022 chr15 59373425 59373425 C T rs780195378 RNF111 Nonsynonymous SNV P747S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 241023 chr15 60641395 60641395 C A ANXA2 Nonsynonymous SNV G298V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 241024 chr15 62204133 62204133 A G rs775999642 VPS13C Nonsynonymous SNV I2831T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 241025 chr19 10403724 10403724 G C ICAM5 Nonsynonymous SNV E423Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 32 241026 chr15 63414366 63414366 C G LACTB Nonsynonymous SNV P99R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.86 241027 chr20 39990580 39990580 C T rs151073469 EMILIN3 Synonymous SNV R543R 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 9.582 241028 chr7 100205564 100205564 C G rs140161433 PCOLCE Synonymous SNV V396V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 241029 chr15 70961364 70961364 A G rs141625629 UACA Synonymous SNV Y540Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 241030 chr11 112126251 112126251 A G rs777140482 PLET1 Synonymous SNV S82S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 241031 chr19 13876925 13876925 G T MRI1 Nonsynonymous SNV G177C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 241032 chr1 9324214 9324214 G A rs369428059 H6PD Synonymous SNV P565P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.399 241033 chr15 89821929 89821929 G A FANCI Nonsynonymous SNV M435I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 241034 chr12 53876404 53876404 G C rs746487486 MAP3K12 Nonsynonymous SNV S728C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 241035 chr15 91434222 91434222 C T rs34086251 FES Nonsynonymous SNV P386L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 241036 chr12 55968408 55968408 C T rs771688785 OR2AP1 Synonymous SNV S70S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 241037 chr12 55968427 55968427 C T rs770288943 OR2AP1 Nonsynonymous SNV P77S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 241038 chr16 1115161 1115161 G A rs189929309 SSTR5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.065 241039 chr12 56558390 56558390 G A rs989944014 SMARCC2 Nonsynonymous SNV P1089S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 241040 chr7 122809230 122809230 T C rs140031525 SLC13A1 Synonymous SNV G175G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.142 241041 chr7 123672179 123672179 C T rs115281203 TMEM229A Synonymous SNV K293K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 241042 chr11 133800880 133800880 G A rs200080271 IGSF9B Synonymous SNV I506I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 241043 chr17 15938174 15938174 G A rs779636265 NCOR1 Nonsynonymous SNV T2244M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 241044 chr7 128431577 128431577 A C rs373318421 CCDC136 Synonymous SNV G10G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 16.82 241045 chr12 989129 989129 A G rs921761535 WNK1 Nonsynonymous SNV M922V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.668 241046 chr12 64868099 64868099 A T rs201336522 TBK1 Synonymous SNV T210T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 241047 chr12 2774000 2774000 C T rs773062528 CACNA1C Synonymous SNV T1403T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.77 241048 chr7 131128278 131128278 T C rs760634368 MKLN1 Synonymous SNV F197F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.14 241049 chr16 19056695 19056695 C T rs137989665 TMC7 Synonymous SNV Y154Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 241050 chr17 17700437 17700437 C T RAI1 Nonsynonymous SNV P1392L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.028 241051 chr7 138603714 138603714 C G rs79731548 KIAA1549 Nonsynonymous SNV A220P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.488 241052 chr1 201751792 201751792 C A rs138136059 NAV1 Nonsynonymous SNV P327T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 241053 chr17 263285 263285 - AACCCCGAGGCCCTCAAGGGCTTCCACCCT rs782549573 C17orf97 P217_D218insNPEALKGFHP 0.001 0 0 1 1 0 0.003 0 0 0 0 0 241054 chr16 30676659 30676659 G T FBRS Synonymous SNV G547G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.974 241055 chr16 30934573 30934573 C T rs571622704 FBXL19-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 241056 chr12 10954919 10954919 A G rs144677090 TAS2R7 Nonsynonymous SNV I84T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.427 241057 chr21 42861462 42861462 C T rs762943835 TMPRSS2 Synonymous SNV A136A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 241058 chr2 71577294 71577294 A T ZNF638 Nonsynonymous SNV M404L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 241059 chr17 3352351 3352351 T C rs200080475 SPATA22 Nonsynonymous SNV D98G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.633 241060 chr12 108910815 108910815 C G rs371618378 FICD Nonsynonymous SNV S22R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 241061 chr20 47585765 47585765 C T ARFGEF2 Synonymous SNV L381L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.2 241062 chr16 4802501 4802501 G A rs554614033 ZNF500 Nonsynonymous SNV P440L 0 0 0.007 0 0 0 0 2 0 0 0 0 17.05 241063 chr16 4851558 4851558 C T rs748232812 ROGDI Nonsynonymous SNV G49D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.29 241064 chr20 50051779 50051779 C T rs561066890 NFATC2 Nonsynonymous SNV V640I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 241065 chr12 19489470 19489470 G C rs202088864 PLEKHA5 Nonsynonymous SNV E640Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 241066 chr17 34942584 34942586 AAA - rs528475310 GGNBP2 K538del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 241067 chr12 112082023 112082023 G A rs1057006610 BRAP Nonsynonymous SNV R587C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 241068 chr7 15601393 15601393 A G rs59147126 AGMO Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.903 241069 chr2 88427471 88427471 G A rs144343680 FABP1 Synonymous SNV I22I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.247 241070 chr12 26348668 26348668 C G rs200655450 SSPN Synonymous SNV A21A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.73 241071 chr17 38324554 38324554 C T rs41283419 CASC3 Nonsynonymous SNV L617F 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 33 241072 chr7 22179708 22179708 A T RAPGEF5 Nonsynonymous SNV S435T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 241073 chr16 66957425 66957425 C T rs752370080 RRAD Nonsynonymous SNV V215M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 241074 chr16 67320811 67320811 C T rs80024062 PLEKHG4 Nonsynonymous SNV R891C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.3 241075 chr13 109793327 109793327 C A rs750724202 MYO16 Synonymous SNV A1589A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.45 241076 chr12 123055479 123055479 G A KNTC1 Synonymous SNV K639K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 241077 chr20 60895715 60895715 C A rs150944918 LAMA5 Nonsynonymous SNV R2220L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 241078 chr16 70497537 70497537 C T rs779016102 FCSK Nonsynonymous SNV R32W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 241079 chr22 19951299 19951299 C T rs368145153 MIR4761 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.217 241080 chr16 70789074 70789074 C T rs115213258 VAC14-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.007 241081 chr13 111368231 111368231 C T rs201913595 ING1 Synonymous SNV G147G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.26 241082 chr12 124829247 124829247 C T NCOR2 Nonsynonymous SNV R1527Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 241083 chr16 74752985 74752985 G A rs748364155 FA2H Synonymous SNV I229I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 241084 chr12 125587298 125587298 A G rs755979712 AACS Nonsynonymous SNV K215R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 241085 chr1 232575000 232575000 C G SIPA1L2 Nonsynonymous SNV E1295D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 241086 chr7 39379473 39379473 C T rs749129641 POU6F2 Synonymous SNV P277P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 241087 chr16 81388341 81388341 A G rs146320394 GAN Nonsynonymous SNV H205R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 241088 chr12 133220454 133220454 G A rs41561818 POLE Nonsynonymous SNV A1420V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 22.3 241089 chr16 83992975 83992975 G A OSGIN1 Nonsynonymous SNV A60T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.692 241090 chr12 51445921 51445921 G A rs754373384 LETMD1 Synonymous SNV K51K 0 0.003 0 0 0 1 0 0 0 0 0 0 14 241091 chr12 51458237 51458237 A G rs767756747 CSRNP2 Synonymous SNV S308S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.326 241092 chr20 9560883 9560883 C T PAK5 Nonsynonymous SNV G300E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 241093 chr13 20413088 20413088 A C rs151010468 ZMYM5 Nonsynonymous SNV N208K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 241094 chr17 43311439 43311439 G A rs142930756 FMNL1 Synonymous SNV T162T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 17.87 241095 chr16 84358031 84358031 G A rs138921876 WFDC1 Nonsynonymous SNV R190Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 241096 chr13 43469169 43469169 C T rs747349556 EPSTI1 Stop gain W170X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 241097 chr1 245849108 245849108 G A KIF26B Synonymous SNV E941E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.515 241098 chr13 25743781 25743781 G C rs2282406 AMER2 Nonsynonymous SNV I659M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.472 241099 chr1 247200759 247200759 T C rs145519575 ZNF670 Nonsynonymous SNV M387V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.966 241100 chr13 29598933 29598933 G A rs778030715 MTUS2 Nonsynonymous SNV G33E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 241101 chr13 31211882 31211882 T C USPL1 Synonymous SNV D109D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.872 241102 chr17 47656125 47656125 G C NXPH3 Nonsynonymous SNV E74D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.504 241103 chr16 8949064 8949064 C T rs778202120 CARHSP1 Nonsynonymous SNV G134D 0 0 0.003 0 0 0 0 1 0 0 0 0 21 241104 chr13 39618244 39618244 C T rs141331513 NHLRC3 Synonymous SNV L135L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.53 241105 chr19 47773827 47773827 C T rs200778283 CCDC9 Nonsynonymous SNV R323W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 241106 chr16 90095949 90095949 C T rs79367624 GAS8-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 8.54 241107 chr16 90109342 90109342 T A rs974914611 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 5.747 241108 chr16 984393 984393 C T rs150569640 LMF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.015 241109 chr7 82430857 82430857 C T PCLO Nonsynonymous SNV G4995E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 241110 chr7 8268292 8268292 T G rs77256293 ICA1 Synonymous SNV S65S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.523 241111 chr17 10619377 10619377 T C rs404399 MAGOH2P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.567 241112 chr3 137822558 137822558 C A rs142726001 DZIP1L Nonsynonymous SNV V86L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 241113 chr14 103416227 103416227 C T rs181346338 CDC42BPB Synonymous SNV T1108T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.6 241114 chr12 66522741 66522741 G A LLPH Nonsynonymous SNV T49I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 241115 chr17 16326889 16326889 G A rs772255545 TRPV2 Synonymous SNV Q244Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.477 241116 chr7 91870433 91870433 T C rs138431665 KRIT1 Nonsynonymous SNV K46E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.47 241117 chr13 61989210 61989210 T C PCDH20 Nonsynonymous SNV M28V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 241118 chr17 18054836 18054836 C A rs756119154 MYO15A Synonymous SNV A2594A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 241119 chr22 50487692 50487692 T C rs374142103 TTLL8 Nonsynonymous SNV I120V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.065 241120 chr8 100847471 100847471 A G rs756048204 VPS13B Nonsynonymous SNV T3246A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 241121 chr1 33160912 33160912 G A rs41265855 SYNC Nonsynonymous SNV R263C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 241122 chr12 89919904 89919904 G A rs777965001 POC1B-GALNT4 Nonsynonymous SNV P10L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.971 241123 chr12 91552180 91552180 A G DCN Nonsynonymous SNV L144S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 241124 chr1 35579162 35579162 A G ZMYM1 Synonymous SNV S502S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 241125 chr22 17590599 17590599 C T rs3804060 IL17RA Synonymous SNV P796P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.605 241126 chr17 65720275 65720275 T C rs755268196 NOL11 Synonymous SNV S28S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.166 241127 chr17 65733648 65733648 G A rs750244318 NOL11 Nonsynonymous SNV V233I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.63 241128 chr17 65908752 65908752 C G rs146204055 BPTF Synonymous SNV V1584V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.766 241129 chr17 66430721 66430721 T C rs73359910 WIPI1 Nonsynonymous SNV Y141C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.94 241130 chr19 5131322 5131322 G A rs59794955 KDM4B Synonymous SNV E517E 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 8.397 241131 chr17 66914220 66914220 G C rs76430844 ABCA8 Nonsynonymous SNV T632S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 241132 chr12 105425613 105425613 A G rs115446211 ALDH1L2 Nonsynonymous SNV Y782H 0 0.005 0 0 0 2 0 0 0 0 0 0 28.2 241133 chr2 10917819 10917822 AGAG - rs752793952 ATP6V1C2 E315Vfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 241134 chr14 21991122 21991122 C T rs768176595 SALL2 Nonsynonymous SNV E912K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 241135 chr8 121237452 121237452 C T rs145708206 COL14A1 Synonymous SNV T621T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.182 241136 chr8 124117536 124117536 G A rs150391599 TBC1D31 Synonymous SNV P242P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.238 241137 chr8 124154646 124154646 A C rs141224192 TBC1D31 Synonymous SNV R793R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.721 241138 chr3 182605459 182605459 A C rs200531169 ATP11B Nonsynonymous SNV H934P 0.003 0 0 0 4 0 0 0 0 0 0 0 23.6 241139 chr17 32953756 32953756 G C TMEM132E Nonsynonymous SNV E226D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 241140 chr12 109186186 109186186 G T SSH1 Nonsynonymous SNV T601K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.63 241141 chr14 23239436 23239436 - A rs749098584 OXA1L Frameshift insertion H209Tfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 241142 chr14 23240341 23240341 C G rs778852380 OXA1L Nonsynonymous SNV L352V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.17 241143 chr19 52544774 52544774 C T rs201899023 ZNF432 Nonsynonymous SNV R34Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 241144 chr22 24237338 24237338 C G MIF-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 2.194 241145 chr12 110467373 110467373 T C rs372319311 ANKRD13A Synonymous SNV S389S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.02 241146 chr8 133053873 133053873 A G OC90 Synonymous SNV N81N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.898 241147 chr12 111891572 111891572 G A rs367732782 ATXN2 Synonymous SNV P967P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 10.73 241148 chr12 112460400 112460400 A G rs752403892 ERP29 Nonsynonymous SNV S244G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 241149 chr8 133945846 133945846 C T rs370476341 TG Synonymous SNV S1619S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.626 241150 chr8 134107411 134107411 C T rs201444172 TG Nonsynonymous SNV R2455C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 241151 chr2 125232360 125232360 T A CNTNAP5 Nonsynonymous SNV F321L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 241152 chr19 536245 536245 G A rs16990556 CDC34 Synonymous SNV T89T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.433 241153 chr12 117693814 117693814 G A rs762431074 NOS1 Nonsynonymous SNV R854C 0 0.003 0 0 0 1 0 0 0 0 0 0 30 241154 chr14 29236974 29236974 C T rs375378714 FOXG1 Synonymous SNV G163G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 13.5 241155 chr14 34419896 34419896 G A rs778862221 EGLN3 Synonymous SNV P21P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 241156 chr3 19492838 19492838 C T rs757099767 KCNH8 Synonymous SNV Y589Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.792 241157 chr22 31484014 31484014 C T rs200834727 SMTN Nonsynonymous SNV R95W 0.004 0.003 0 4 5 1 0.01 0 0 0 0 0 34 241158 chr14 23889417 23889417 C G rs886041113 MYH7 Nonsynonymous SNV E1121D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 241159 chr12 122625577 122625577 G A rs201761019 MLXIP Nonsynonymous SNV R862Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.176 241160 chr1 6634816 6634816 G A TAS1R1 Stop gain W208X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 241161 chr1 6637055 6637055 C G rs61740593 TAS1R1 Nonsynonymous SNV R253G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 241162 chr17 41570201 41570201 A G DHX8 Nonsynonymous SNV K128R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.507 241163 chr14 52781343 52781343 C G rs767948522 PTGER2 Nonsynonymous SNV A26G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 241164 chr14 53619365 53619365 - GGCCGCCA DDHD1 Frameshift insertion P151Lfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 241165 chr14 64514839 64514839 C T SYNE2 Nonsynonymous SNV T2448I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.149 241166 chr17 42453714 42453714 G A rs1043739041 ITGA2B Synonymous SNV D770D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.482 241167 chr14 59988372 59988372 T C rs75578137 CCDC175 Nonsynonymous SNV N673S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.525 241168 chr19 5867690 5867690 C G FUT5 Nonsynonymous SNV C16S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.259 241169 chr19 58945182 58945182 G A rs199698210 ZNF132 Synonymous SNV Y543Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.931 241170 chr13 31736118 31736118 C G rs568930034 HSPH1 0 0.003 0 0 0 1 0 0 0 0 0 0 19.09 241171 chr1 86965385 86965385 A G rs376108919 CLCA1 Nonsynonymous SNV D801G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 241172 chr13 32890659 32890659 A G rs397507367 BRCA2 Nonsynonymous SNV K21R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.04 241173 chr14 75276683 75276683 T G rs368738834 YLPM1 Synonymous SNV P1670P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.281 241174 chr14 75348683 75348683 T C rs755094737 DLST Synonymous SNV S9S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.142 241175 chr14 75348684 75348684 C T rs765595175 DLST Nonsynonymous SNV R10W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 241176 chr2 183731238 183731238 C A FRZB Nonsynonymous SNV G15W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 241177 chr14 71374618 71374618 C T rs371986953 PCNX1 Synonymous SNV L17L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 241178 chr17 48823124 48823124 G C rs146274793 LUC7L3 Nonsynonymous SNV R246P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 241179 chr2 100020162 100020162 T C rs752929205 REV1 Synonymous SNV A1053A 0.003 0 0 0 3 0 0 0 0 0 0 0 5.244 241180 chr8 2965294 2965294 G C rs190894161 CSMD1 Nonsynonymous SNV P2261A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.6 241181 chr14 93404831 93404831 G A ITPK1 Synonymous SNV D314D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.514 241182 chr17 60642382 60642382 G A rs535539692 TLK2 Synonymous SNV A252A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 241183 chr14 79423649 79423649 G T NRXN3 Synonymous SNV R407R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.882 241184 chr17 60813807 60813807 T G MARCHF10 Synonymous SNV A474A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.672 241185 chr13 72049312 72049312 G A rs200697835 DACH1 Nonsynonymous SNV R480C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 241186 chr14 94844832 94844832 T G rs754885222 SERPINA1 Nonsynonymous SNV K404T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.499 241187 chr13 76395444 76395444 A G rs145591276 LMO7 Nonsynonymous SNV E453G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.75 241188 chr13 77581645 77581645 T C rs780103627 FBXL3 Nonsynonymous SNV I308V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.727 241189 chr2 201721427 201721427 A G CLK1 Synonymous SNV Y387Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.009 241190 chr18 29055956 29055956 C T rs553912530 DSG3 Synonymous SNV S911S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.813 241191 chr14 96783591 96783591 C T rs753600576 ATG2B Nonsynonymous SNV R1034H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 241192 chr14 92268640 92268640 G A rs143829621 TC2N Nonsynonymous SNV R143C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 241193 chr13 99907722 99907722 C A rs143171650 GPR18 Synonymous SNV T135T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.15 241194 chr17 67252314 67252314 C G rs977846185 ABCA5 Nonsynonymous SNV C1281S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 241195 chr14 94526552 94526552 C T rs139827915 DDX24 Nonsynonymous SNV R602H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 241196 chr3 66023956 66023956 G T rs141809711 MAGI1 Nonsynonymous SNV H10N 0.003 0.003 0.003 2 3 1 0.005 1 0 0 0 0 26.7 241197 chr13 103421818 103421818 T C rs772701933 TEX30 Nonsynonymous SNV Y30C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 241198 chr13 103459712 103459712 C G BIVM, BIVM-ERCC5 Nonsynonymous SNV A32G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 241199 chr15 102245932 102245932 G C TARS3 Nonsynonymous SNV R317G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 241200 chr2 20838277 20838277 G A rs144903305 HS1BP3 Nonsynonymous SNV P181L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.246 241201 chr15 24922932 24922932 G A rs144839857 NPAP1 Nonsynonymous SNV G640R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 241202 chr14 96001640 96001640 G T GLRX5 Nonsynonymous SNV A72S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 241203 chr8 75227140 75227140 C A rs754248893 JPH1 Nonsynonymous SNV R365S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 241204 chr8 81577150 81577150 G C rs140769308 ZNF704 Nonsynonymous SNV T276R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 241205 chr17 72613378 72613378 C T rs899226887 CD300E Synonymous SNV V89V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.959 241206 chr17 72694519 72694519 T G rs1032015009 CD300LF Nonsynonymous SNV Y198S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.977 241207 chr14 103573995 103573995 G A rs759676549 EXOC3L4 Nonsynonymous SNV V577M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 241208 chr3 9970303 9970303 C G rs773903331 IL17RC Nonsynonymous SNV L327V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.15 241209 chr14 20837854 20837854 T C rs79167882 TEP1 Nonsynonymous SNV T2360A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26 241210 chr17 73499940 73499940 G A CASKIN2 Nonsynonymous SNV T442I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 241211 chr14 21024967 21024967 T C rs374132625 RNASE9 Nonsynonymous SNV M88V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 241212 chr9 100070360 100070360 G A rs777322484 CCDC180 Synonymous SNV G49G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 241213 chr9 100616406 100616406 C G rs538551156 FOXE1 Synonymous SNV P70P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 241214 chr17 7365909 7365909 G A rs142195496 ZBTB4 Nonsynonymous SNV P798S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 241215 chr17 73844704 73844704 G A WBP2 Nonsynonymous SNV T115M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 241216 chr2 219757626 219757626 G A WNT10A Nonsynonymous SNV R296H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 241217 chr14 21623218 21623218 G A rs754311632 OR5AU1 Nonsynonymous SNV R272C 0.005 0.003 0 0 6 1 0 0 1 0 0 0 18.44 241218 chr9 101831981 101831981 C T rs756415921 COL15A1 Nonsynonymous SNV S1327F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 241219 chr14 105419906 105419906 G A rs780570580 AHNAK2 Nonsynonymous SNV R528C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 241220 chr18 61647170 61647170 C T rs150067519 SERPINB8 Nonsynonymous SNV P102S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.17 241221 chr17 74150148 74150148 C T rs754707 RNF157-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 8.111 241222 chr15 22925888 22925888 C G CYFIP1 Nonsynonymous SNV L70V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 241223 chr1 109242232 109242232 C T rs141761638 PRPF38B Nonsynonymous SNV R266W 0.002 0.01 0 0 2 4 0 0 0 0 0 0 24.9 241224 chr14 23354149 23354149 G A rs143212029 REM2 Nonsynonymous SNV G124S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.2 241225 chr17 75878046 75878046 T G rs148379576 LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 241226 chr17 76134676 76134676 C T rs142857824 TMC8 Synonymous SNV C562C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.38 241227 chr18 72124412 72124412 A C rs772257154 DIPK1C Nonsynonymous SNV F28C 0 0 0 1 0 0 0.003 0 0 0 0 0 5.701 241228 chr17 76267702 76267702 G C rs1002127980 LINC01993 0 0 0.003 0 0 0 0 1 0 0 0 0 0.244 241229 chr15 42985987 42985987 C T rs763890809 STARD9 Nonsynonymous SNV R4071C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.32 241230 chr17 76799863 76799863 G A rs756686721 USP36 Nonsynonymous SNV P805L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.802 241231 chr20 43739069 43739069 G A rs145123781 WFDC5 Synonymous SNV C113C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.34 241232 chr15 40916770 40916770 C G KNL1 Nonsynonymous SNV D1436E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 241233 chr17 78346840 78346840 G A rs141329059 RNF213 Nonsynonymous SNV D4273N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 29.5 241234 chr15 40917126 40917126 A G rs752901392 KNL1 Nonsynonymous SNV H1555R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 241235 chr15 41222224 41222224 G A rs1025548919 DLL4 Synonymous SNV P82P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.86 241236 chr20 45874788 45874788 T C rs975347101 ZMYND8 Nonsynonymous SNV K678E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 241237 chr19 10107313 10107313 G A rs776820444 COL5A3 Nonsynonymous SNV P439L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 241238 chr15 42116193 42116193 C G MAPKBP1 Nonsynonymous SNV P1383A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 241239 chr15 52069184 52069184 C T TMOD2 Synonymous SNV A154A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.82 241240 chr14 45430101 45430101 C A rs532180695 KLHL28 Nonsynonymous SNV A11S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.365 241241 chr14 45432343 45432343 T C rs775091625 TOGARAM1 Nonsynonymous SNV I240T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 241242 chr19 1051471 1051471 G A rs201861165 ABCA7 Nonsynonymous SNV V950M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 241243 chr15 44865872 44865872 A C rs951282815 SPG11 Synonymous SNV S2026S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.098 241244 chr2 238267692 238267692 T A rs750889657 COL6A3 Nonsynonymous SNV N1525Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.58 241245 chr17 8052069 8052069 T C rs552612674 PER1 Nonsynonymous SNV Q314R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 241246 chr2 179997067 179997067 T C rs771815005 SESTD1 Synonymous SNV L312L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.537 241247 chr19 11409005 11409005 C T rs375132195 TSPAN16 Nonsynonymous SNV T86M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 241248 chr15 58855865 58855865 G A rs376117349 LIPC Nonsynonymous SNV R444H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.571 241249 chr15 59191785 59191785 C A rs142696944 SLTM Nonsynonymous SNV G296V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 241250 chr17 8167250 8167250 G A rs142452570 PFAS Nonsynonymous SNV R596Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 241251 chr17 8170769 8170769 A G rs149801741 PFAS Synonymous SNV L1085L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.054 241252 chr2 186653655 186653655 C T rs762635982 FSIP2 Nonsynonymous SNV P598S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.9 241253 chr14 55817612 55817612 G A rs781247507 FBXO34 Synonymous SNV R168R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.03 241254 chr19 11833871 11833871 C T rs190608914 ZNF823 Nonsynonymous SNV G116R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 241255 chr9 125612053 125612053 T G rs761231075 RC3H2 Synonymous SNV P1086P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.212 241256 chr19 12691840 12691840 C T ZNF490 Nonsynonymous SNV R350Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.465 241257 chr15 65110197 65110197 C T rs769338439 PIF1 Nonsynonymous SNV R541Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 241258 chr15 65257667 65257667 A G SPG21 Synonymous SNV Y241Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.727 241259 chr19 13049524 13049524 C T rs770160684 CALR Nonsynonymous SNV L11F 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 241260 chr9 130656861 130656861 C T rs374857817 ST6GALNAC6 Nonsynonymous SNV R42H 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 3.1 241261 chr15 68623375 68623375 A T rs892808443 ITGA11 Nonsynonymous SNV N615K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 241262 chr18 28725713 28725713 G C rs1012997757 DSC1 Nonsynonymous SNV T267R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 241263 chr15 71124549 71124549 C T rs137980277 LARP6 Nonsynonymous SNV E256K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 241264 chr14 68352587 68352587 C T rs374601187 RAD51B Synonymous SNV L152L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 241265 chr19 15354258 15354258 G A rs761755028 BRD4 Synonymous SNV S874S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.3 241266 chr18 42643553 42643553 G A SETBP1 Nonsynonymous SNV A1561T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 241267 chr15 77287782 77287782 T C PSTPIP1 Synonymous SNV V21V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.77 241268 chr9 134361526 134361526 G A rs747822258 PRRC2B Nonsynonymous SNV R1938Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 241269 chr15 78465948 78465948 C T rs74894991 ACSBG1 Synonymous SNV S688S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.891 241270 chr9 135073856 135073856 C T rs566856061 NTNG2 Synonymous SNV S239S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.86 241271 chr2 33037578 33037578 A G rs138466700 TTC27 Nonsynonymous SNV Q685R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 241272 chr15 81274463 81274463 C A MESD Nonsynonymous SNV D92Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.7 241273 chr15 75113077 75113077 T A LMAN1L Synonymous SNV T292T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.656 241274 chr21 31023528 31023528 A G GRIK1 Synonymous SNV P146P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.774 241275 chr21 33706533 33706533 C T rs749271715 URB1 Nonsynonymous SNV R1599Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 241276 chr14 81380675 81380675 C T rs181432069 CEP128 Synonymous SNV A75A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 241277 chr14 86088586 86088586 C G rs777515859 FLRT2 Nonsynonymous SNV S243C 0 0.005 0 2 0 2 0.005 0 0 0 0 0 22.3 241278 chr18 60562347 60562347 A G rs774317972 PHLPP1 Nonsynonymous SNV N724D 0 0 0.003 0 0 0 0 1 0 0 0 0 30 241279 chr14 91766410 91766410 C T rs183646530 CCDC88C Nonsynonymous SNV G1214S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.388 241280 chr14 92102871 92102871 T C CATSPERB Nonsynonymous SNV D547G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.098 241281 chr15 82335785 82335785 T C MEX3B Nonsynonymous SNV N476D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 241282 chr2 47357378 47357378 - C rs758601743 STPG4 Frameshift insertion Q141Afs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 241283 chr2 47389467 47389467 G A rs141298844 CALM2 Synonymous SNV D45D 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 8.894 241284 chr18 6511542 6511542 G A rs181418978 LINC01387 0 0 0.003 0 0 0 0 1 0 0 0 0 7.841 241285 chr18 66505955 66505955 G T rs201428626 CCDC102B Nonsynonymous SNV V207F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 241286 chr15 85326008 85326008 T C rs748045427 ZNF592 Synonymous SNV S34S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 241287 chr18 7012025 7012025 C G LAMA1 Nonsynonymous SNV C1159S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 241288 chr1 160162633 160162633 G A rs745480864 CASQ1 Synonymous SNV G107G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.14 241289 chr1 161068590 161068590 G C KLHDC9 Nonsynonymous SNV G89R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 241290 chr18 74208334 74208334 T C rs3813100 C18orf65 Nonsynonymous SNV C60R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 241291 chr15 91423363 91423363 C T rs145625143 FURIN Synonymous SNV T472T 0 0 0.003 4 0 0 0.01 1 0 0 0 0 6.666 241292 chr21 43161842 43161842 T C rs372327761 RIPK4 Nonsynonymous SNV Q504R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.4 241293 chr14 94964264 94964264 A G SERPINA12 Synonymous SNV F157F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 241294 chr1 161138868 161138868 G A PPOX Synonymous SNV E201E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.116 241295 chr18 77679195 77679195 C T rs768269773 SLC66A2 Synonymous SNV T181T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 241296 chr21 43983960 43983960 A T rs757553257 SLC37A1 Nonsynonymous SNV T370S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 241297 chr14 100705692 100705692 G T YY1 Nonsynonymous SNV E37D 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 241298 chr16 11000693 11000693 C A rs372566990 CIITA Synonymous SNV V448V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.543 241299 chr19 10166332 10166332 T C rs754733126 C3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.655 241300 chr2 75101515 75101515 G A rs141419754 HK2 Nonsynonymous SNV D272N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 241301 chr4 6107596 6107596 C T JAKMIP1 Synonymous SNV L76L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.18 241302 chr21 46596381 46596381 C T rs766542655 ADARB1 Synonymous SNV S304S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.85 241303 chr19 33792919 33792919 C T rs752254340 CEBPA Synonymous SNV A15A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.21 241304 chr19 1109349 1109349 T C rs1029929911 SBNO2 Nonsynonymous SNV N1040S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 241305 chr19 3618902 3618902 C T rs373966903 CACTIN Nonsynonymous SNV R378H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 241306 chr19 36342218 36342218 G A rs756755401 NPHS1 Nonsynonymous SNV R115C 0 0 0 1 0 0 0.003 0 0 0 0 0 28 241307 chr2 98382713 98382713 T C TMEM131 Synonymous SNV L1529L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.361 241308 chr2 238976708 238976708 A G rs143106489 SCLY Nonsynonymous SNV R69G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.323 241309 chr16 1260811 1260811 G A rs747715176 CACNA1H Nonsynonymous SNV G1355S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.1 241310 chr3 10865053 10865053 C T SLC6A11 Nonsynonymous SNV T200I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 241311 chr2 241895264 241895264 C T rs555857918 LOC200772 0.001 0 0 0 1 0 0 0 0 0 0 0 4.072 241312 chr3 111261100 111261100 - G rs752956934 CD96 Frameshift insertion K3Efs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 241313 chr16 1574608 1574608 G A rs757852837 IFT140 Nonsynonymous SNV A1029V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 241314 chr16 1604914 1604914 A G TMEM204 Nonsynonymous SNV I190V 0.002 0 0 0 2 0 0 0 0 0 0 0 7.038 241315 chr16 27518208 27518208 G A rs749815172 GTF3C1 Synonymous SNV L504L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.267 241316 chr16 28518122 28518122 G A rs749773830 IL27 Nonsynonymous SNV T4M 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 0.005 241317 chr15 42144468 42144468 C T SPTBN5 Nonsynonymous SNV R3499K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 241318 chr19 39340499 39340499 C T HNRNPL Synonymous SNV A36A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.38 241319 chr9 95846838 95846838 A T rs753351184 SUSD3 Nonsynonymous SNV S86C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 241320 chr16 2287922 2287922 G T DNASE1L2 Nonsynonymous SNV R249L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 241321 chr2 29295657 29295657 C T rs528670230 PCARE Nonsynonymous SNV E491K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.1 241322 chr19 40928963 40928963 C G rs148598399 SERTAD1 Nonsynonymous SNV C164S 0 0 0 2 0 0 0.005 0 0 0 0 0 23 241323 chr19 41097056 41097056 C T rs768569466 SHKBP1 Synonymous SNV S689S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 241324 chr19 19166680 19166680 C T rs142757655 ARMC6 Synonymous SNV G387G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.775 241325 chr19 19312499 19312499 A G rs761097826 RFXANK Nonsynonymous SNV S229G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 241326 chrX 106846209 106846209 A G rs765358190 FRMPD3 Nonsynonymous SNV N1680S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 241327 chr1 202097223 202097223 C G GPR37L1 Nonsynonymous SNV Q329E 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 22.5 241328 chr19 21606605 21606605 T C rs140782684 ZNF493 Nonsynonymous SNV C254R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 241329 chrX 124455931 124455931 G A rs758581723 TEX13C Nonsynonymous SNV V655M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.517 241330 chr19 44056330 44056330 T C rs770605769 XRCC1 Synonymous SNV R307R 0 0 0 2 0 0 0.005 0 0 0 0 0 3.698 241331 chr16 11220044 11220044 T C rs368393518 CLEC16A Synonymous SNV H876H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.572 241332 chr19 2630762 2630762 C A MIR7850 0 0 0.003 0 0 0 0 1 0 0 0 0 3.572 241333 chr19 3207685 3207685 G A NCLN Synonymous SNV X563X 0 0 0.003 0 0 0 0 1 0 0 0 0 9.352 241334 chr16 15790602 15790602 G A rs199730431 NDE1 Nonsynonymous SNV V278M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 241335 chr16 15833924 15833924 T A MYH11 Nonsynonymous SNV N994I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 241336 chr16 18861321 18861321 C T rs368061527 SMG1 Nonsynonymous SNV R1804Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 241337 chr19 34843731 34843731 C T rs368576883 KIAA0355 Synonymous SNV A1028A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.781 241338 chr15 65625731 65625731 C T rs748990951 IGDCC3 Synonymous SNV E282E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.2 241339 chr15 68489794 68489794 C G rs780923053 CALML4 Nonsynonymous SNV K44N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 241340 chr16 57394420 57394420 G A rs748315767 CCL22 Nonsynonymous SNV V49M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.037 241341 chr19 36317455 36317455 G A rs116744687 NPHS1 Synonymous SNV P1229P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.594 241342 chr16 68857469 68857469 G A rs149127230 CDH1 Nonsynonymous SNV E641K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.8 241343 chr16 28997041 28997041 C T rs138690406 LAT Synonymous SNV Y36Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.075 241344 chr16 30389773 30389773 C G rs373881495 SEPTIN1 Nonsynonymous SNV E367D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 241345 chr16 30770719 30770719 C T rs143239070 CCDC189 Nonsynonymous SNV V201M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 241346 chr15 78921343 78921343 G A rs56317523 CHRNB4 Nonsynonymous SNV A435V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 28.2 241347 chrX 38031152 38031152 G A rs375318852 SRPX Nonsynonymous SNV R150W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 241348 chr22 50904872 50904872 G A rs751288163 SBF1 Nonsynonymous SNV T233M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 241349 chr15 81650560 81650560 G A rs772703677 TMC3 Nonsynonymous SNV R225W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 241350 chr3 155861029 155861029 C T rs773733120 KCNAB1 Nonsynonymous SNV S21F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 241351 chr3 155861030 155861030 C T rs763329200 KCNAB1 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 241352 chr15 85326944 85326944 G A rs771968057 ZNF592 Synonymous SNV S346S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.334 241353 chr2 96993147 96993147 C T rs115597301 ITPRIPL1 Nonsynonymous SNV R268C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 241354 chr19 39882141 39882141 G A rs764475211 MED29 Nonsynonymous SNV G27S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 241355 chr1 227222428 227222428 A - CDC42BPA L1072Pfs*21 0.002 0.005 0 0 2 2 0 0 0 0 0 0 241356 chr19 40901532 40901532 G A rs61735546 PRX Synonymous SNV P909P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.904 241357 chr2 10581771 10581771 G A rs371443385 ODC1 Nonsynonymous SNV R240C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 241358 chr19 40902242 40902242 T C rs61735531 PRX Nonsynonymous SNV M673V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.057 241359 chrX 71426357 71426357 G C ERCC6L Nonsynonymous SNV P754A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 241360 chrX 73749271 73749271 T C SLC16A2 Nonsynonymous SNV I465T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 241361 chrX 74725668 74725668 G C ZDHHC15 Nonsynonymous SNV P51A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 241362 chr19 41787146 41787146 A G HNRNPUL1 Nonsynonymous SNV K233R 0 0 0.003 0 0 0 0 1 0 0 0 0 21 241363 chr19 42224118 42224118 G A rs61735249 CEACAM5 Nonsynonymous SNV D588N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 241364 chr16 68021826 68021826 C G rs766824465 DPEP2 Nonsynonymous SNV G221R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 241365 chr19 42753160 42753160 A G rs76105803 ERF Synonymous SNV S293S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.255 241366 chr3 113672859 113672859 G A rs762373839 ZDHHC23 Synonymous SNV Q158Q 0.004 0 0 0 5 0 0 0 0 0 0 0 7.773 241367 chr19 44039525 44039525 - C ZNF575 Frameshift insertion P143Tfs*126 0 0 0.003 0 0 0 0 1 0 0 0 0 241368 chr16 84229172 84229172 G A rs150649614 ADAD2 Synonymous SNV G307G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.145 241369 chr16 84256182 84256182 C T rs754289551 KCNG4 Nonsynonymous SNV E401K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 241370 chr19 50193464 50193464 T C rs764258441 ADM5 Nonsynonymous SNV L59P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.66 241371 chr16 72821604 72821642 CCGCCGCCGCCGCCACCGCCGCCGCCGCCGCCACTGCCA - rs774872876 ZFHX3 S2599_G2611del 0.002 0 0 0 2 0 0 0 0 0 0 0 241372 chr16 76389300 76389300 G A CNTNAP4 Synonymous SNV V69V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.249 241373 chr10 114045835 114045835 C A rs147615429 TECTB Nonsynonymous SNV P92T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 241374 chr1 237057793 237057793 A G rs769629619 MTR Nonsynonymous SNV Y1063C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.4 241375 chr16 78148952 78148952 C T rs750226191 WWOX Nonsynonymous SNV R104W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 241376 chr15 101567971 101567971 C T rs41535348 LRRK1 Synonymous SNV N885N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 12.42 241377 chr3 126708256 126708256 G A rs369940054 PLXNA1 Nonsynonymous SNV G274S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 241378 chr10 118357378 118357378 G A rs782187986 PNLIPRP1 Nonsynonymous SNV E205K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 241379 chr19 46997022 46997022 T G PNMA8B Synonymous SNV R567R 0 0.003 0.014 0 0 1 0 4 0 0 0 0 8.634 241380 chr10 121596513 121596513 G A MCMBP Synonymous SNV N479N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 241381 chr19 47217229 47217229 G A rs368113347 PRKD2 Synonymous SNV Y90Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 241382 chr10 122114639 122114639 A G rs376557852 RPL21 Synonymous SNV F19F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 241383 chr10 124390711 124390711 C T rs183604937 DMBT1 Nonsynonymous SNV T1330M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 241384 chr16 1492913 1492913 C T rs758172770 CCDC154 Synonymous SNV E173E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.952 241385 chr3 132440754 132440754 G A rs779161723 NPHP3-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 8.297 241386 chr10 126370638 126370638 G A rs148943049 FAM53B Synonymous SNV S148S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.959 241387 chr17 10440569 10440569 C T rs745410499 MYH2 Synonymous SNV G626G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.07 241388 chr10 133109575 133109575 G T TCERG1L Nonsynonymous SNV F108L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 241389 chr16 2550333 2550333 C T rs200641000 TBC1D24 Nonsynonymous SNV P450L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 6.12 241390 chr10 134218335 134218335 G A rs763902882 PWWP2B Nonsynonymous SNV A111T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.827 241391 chr3 3887238 3887238 C T rs141825989 LRRN1 Nonsynonymous SNV R305C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 241392 chr10 134664663 134664663 C T rs140935676 CFAP46 Synonymous SNV A1907A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.078 241393 chr10 134996891 134996891 A T rs373389738 KNDC1 Nonsynonymous SNV E135V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 241394 chr10 135012457 135012457 C T rs560932020 KNDC1 Synonymous SNV A815A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 241395 chr3 142542415 142542415 C T rs147612568 PCOLCE2 Nonsynonymous SNV R303Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 35 241396 chr1 2573220 2573220 G A rs561866095 TTC34 Nonsynonymous SNV R943W 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 25.6 241397 chr17 17480273 17480273 G A rs11554365 PEMT Synonymous SNV A33A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.4 241398 chr16 89877474 89877474 C G rs754659196 FANCA Nonsynonymous SNV A97P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 241399 chr10 15290670 15290670 T C rs932463110 FAM171A1 Nonsynonymous SNV Y241C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 241400 chr17 18054071 18054071 G A rs868696664 MYO15A Nonsynonymous SNV V2463M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.02 241401 chr2 179478643 179478643 C T rs768914789 TTN Nonsynonymous SNV R7391H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 241402 chr10 17153023 17153023 C T rs78201384 CUBN Nonsynonymous SNV E304K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.84 241403 chr3 15455433 15455433 G A rs116028124 METTL6 Stop gain R213X 0.002 0 0 0 2 0 0 0 0 0 0 0 0.278 241404 chr3 15677088 15677088 A G rs114092911 BTD Nonsynonymous SNV I48V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.006 241405 chr10 24669876 24669876 G A rs369848932 KIAA1217 Nonsynonymous SNV A145T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 241406 chr2 186665849 186665849 C A FSIP2 Nonsynonymous SNV S3939Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.089 241407 chr3 169540562 169540562 C T LRRIQ4 Nonsynonymous SNV L285F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 241408 chr3 48613083 48613083 G A rs772739066 COL7A1 Synonymous SNV G1985G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.197 241409 chr3 178748766 178748766 G A rs368631631 ZMAT3 Nonsynonymous SNV L98F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.3 241410 chr3 49337915 49337915 G A rs777351532 USP4 Synonymous SNV H452H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.33 241411 chr17 260248 260248 C T rs374291590 C17orf97 Nonsynonymous SNV R39C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 241412 chr19 53384715 53384715 A G ZNF320 Nonsynonymous SNV C222R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 241413 chr19 53644650 53644650 T G rs763894156 ZNF347 Synonymous SNV L478L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.915 241414 chr2 191524403 191524403 T G rs765916629 NAB1 Synonymous SNV T167T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 241415 chr5 6600043 6600043 C T rs140673211 NSUN2 Nonsynonymous SNV R732Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 241416 chr3 184096135 184096135 C T rs564420961 THPO Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 5.899 241417 chr19 57910334 57910334 T G rs761576701 ZNF548 Nonsynonymous SNV C227G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 241418 chr19 54849689 54849689 G A rs780278788 LILRA4 Synonymous SNV D111D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.197 241419 chr19 58213957 58213957 G A rs373496825 ZNF154 Synonymous SNV S120S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.954 241420 chr3 190993084 190993084 G A rs756234868 UTS2B Synonymous SNV S97S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.066 241421 chr2 203948140 203948140 C T NBEAL1 Synonymous SNV L295L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 241422 chr16 48180287 48180287 G A rs41280929 ABCC12 Nonsynonymous SNV R17W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.4 241423 chr2 206892841 206892841 C T INO80D Nonsynonymous SNV R431Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 241424 chr10 49448401 49448401 A G rs754048848 FRMPD2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 241425 chr19 59010524 59010524 C T rs77807864 SLC27A5 Synonymous SNV L493L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 15.98 241426 chr19 55870177 55870177 G A FAM71E2 Nonsynonymous SNV H687Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 241427 chr19 56369040 56369040 G C rs139677225 NLRP4 Nonsynonymous SNV G94A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.154 241428 chr17 36959083 36959083 G A rs199944848 CWC25 Nonsynonymous SNV R345W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 241429 chr2 21231742 21231742 T C rs1042006 APOB Synonymous SNV V2666V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.35 241430 chr3 3118275 3118275 A G IL5RA Nonsynonymous SNV V344A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.81 241431 chr16 58752439 58752439 C T rs149988435 GOT2 Nonsynonymous SNV D154N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.2 241432 chr19 56733968 56733968 T C ZSCAN5A Nonsynonymous SNV K127R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 241433 chr19 56925798 56925798 G A ZNF583 Nonsynonymous SNV G74D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.771 241434 chr16 67866437 67866437 G T rs199950856 CENPT Nonsynonymous SNV A41D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 241435 chr19 57839538 57839538 T C rs138441500 ZNF543 Synonymous SNV F236F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 6.918 241436 chr16 70694048 70694048 G A rs192356278 IL34 Synonymous SNV S228S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.945 241437 chr16 71318994 71318994 A G CMTR2 Nonsynonymous SNV F277S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 241438 chr10 70968361 70968361 G A rs202133775 SUPV3L1 Nonsynonymous SNV R315Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 241439 chr10 71000446 71000446 C T rs149856737 HKDC1 Synonymous SNV T210T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 241440 chr2 220342447 220342447 A T rs200647535 SPEG Nonsynonymous SNV D1589V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 241441 chr19 6479049 6479049 G A rs369564716 DENND1C Synonymous SNV A21A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 241442 chr10 72300885 72300885 C T rs117803924 PALD1 Nonsynonymous SNV R646W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 241443 chr16 77859356 77859356 G A rs765788361 VAT1L Nonsynonymous SNV V193M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 241444 chr10 75554319 75554319 C T rs189787233 ZSWIM8 Nonsynonymous SNV R939W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 241445 chr10 81109425 81109425 C T rs373717153 PPIF Synonymous SNV N77N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 241446 chr10 8115758 8115758 G A GATA3 Nonsynonymous SNV M369I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 241447 chr19 8320764 8320764 - T rs763946019 CERS4 0 0 0.003 0 0 0 0 1 0 0 0 0 241448 chr17 19237487 19237487 A G rs116449635 EPN2 Nonsynonymous SNV M331V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 241449 chr2 232099940 232099940 T C rs16827883 ARMC9 Nonsynonymous SNV I209T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.017 241450 chr19 8976313 8976313 C T MUC16 Nonsynonymous SNV G14172D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 241451 chr10 86007463 86007463 A C rs104894187 RGR Nonsynonymous SNV S66R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 241452 chr2 237076431 237076431 G A GBX2 Nonsynonymous SNV P62S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 241453 chr4 154625563 154625563 C A rs759728260 TLR2 Nonsynonymous SNV L502I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 241454 chr6 139232424 139232424 G A rs144226246 REPS1 Nonsynonymous SNV P595S 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Likely benign 19.69 241455 chr17 28407911 28407911 T G rs371574641 EFCAB5 Nonsynonymous SNV M1113R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 241456 chr19 9226016 9226016 C T rs766182497 OR7G1 Nonsynonymous SNV G142S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.984 241457 chr1 109870149 109870149 C T rs752486193 SORT1 Synonymous SNV P345P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.75 241458 chr16 89724239 89724239 C T rs559303642 SPATA33 Synonymous SNV T10T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.414 241459 chr6 148865351 148865351 C A rs141159728 SASH1 Synonymous SNV I676I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 241460 chr17 4797588 4797588 G A rs200556864 MINK1 Synonymous SNV S893S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 11.4 241461 chr1 95530528 95530528 T C rs138996965 ALG14 Nonsynonymous SNV N61S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.001 241462 chr1 11250000 11250000 C T ANGPTL7 Stop gain Q122X 0 0 0 2 0 0 0.005 0 0 0 0 0 38 241463 chr17 48774319 48774319 G A rs3815378 ANKRD40 Synonymous SNV P314P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.1 241464 chr17 48777220 48777220 - TCA rs138572332 ANKRD40 D106_N107insD 0 0 0.003 1 0 0 0.003 1 0 0 0 0 241465 chr3 8672554 8672554 T C SSUH2 Synonymous SNV Q154Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.213 241466 chr1 116931559 116931559 C T ATP1A1 Synonymous SNV P224P 0 0 0 1 0 0 0.003 0 0 0 0 0 19.86 241467 chr17 38975328 38975339 GGCCGCCGCCGG - rs761400509 KRT10 S483_H487delinsY 0.001 0.003 0 0 1 1 0 0 0 0 0 0 241468 chr17 38975342 38975344 CTT - rs778345104 KRT10 S483del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 241469 chr1 111826769 111826769 C T rs185015381 CHIAP2 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 241470 chr1 112020272 112020272 G A C1orf162 0 0 0.003 0 0 0 0 1 0 0 0 0 9.012 241471 chr20 21689981 21689981 C T rs767129610 PAX1 Nonsynonymous SNV P394L 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 32 241472 chr1 113134192 113134192 G A rs115475725 ST7L Nonsynonymous SNV P36L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 241473 chr17 5998511 5998511 G A rs138877695 WSCD1 Nonsynonymous SNV V273M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 241474 chr1 113657145 113657145 G A rs774407744 LRIG2 Nonsynonymous SNV R726H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 241475 chr1 12089881 12089881 C T MIIP Nonsynonymous SNV P259S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 241476 chr1 115527364 115527364 C T rs150731809 SYCP1 Nonsynonymous SNV P835S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 241477 chr1 1244474 1244474 C T rs747688345 PUSL1 Synonymous SNV A48A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 241478 chr1 12820859 12820859 G C rs750241731 C1orf158 Nonsynonymous SNV R149P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 241479 chr2 40392120 40392120 T A rs769786310 SLC8A1 Nonsynonymous SNV E645D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.809 241480 chr11 103033797 103033797 T C DYNC2H1 Nonsynonymous SNV L1511S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 241481 chr17 650797 650797 G A rs61753061 GEMIN4 Synonymous SNV D162D 0.003 0 0 1 4 0 0.003 0 0 0 0 0 5.87 241482 chr1 12316529 12316529 A G rs758540489 VPS13D Nonsynonymous SNV Q270R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 241483 chr17 40345559 40345559 - GCA rs780669323 GHDC L13_P14insL 0.001 0 0 0 1 0 0 0 0 0 0 0 241484 chr1 1267205 1267205 G A rs780598354 TAS1R3 Nonsynonymous SNV A127T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 241485 chr11 108186610 108186610 G A rs11212587 ATM Nonsynonymous SNV G2023R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 241486 chr17 7124270 7124270 G A rs560912181 ACADVL Nonsynonymous SNV A102T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.789 241487 chr11 1092388 1092388 - CTACCACTCCCAGCCCTCCACCTACCACTCCCAGCCCTCCAC MUC2 T1411_S1412insTPSPPPTTPSPPPT 0.001 0 0 0 1 0 0 0 0 0 0 0 241488 chr11 111635624 111635624 T C rs372351210 PPP2R1B Nonsynonymous SNV I71V 0.001 0 0.007 0 1 0 0 2 0 0 1 0 11.29 241489 chr1 145415455 145415455 C A HJV Nonsynonymous SNV R92S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 241490 chr11 113085211 113085211 G A rs568391383 NCAM1 Nonsynonymous SNV R346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 241491 chr1 152692050 152692050 C T rs553642846 C1orf68 Nonsynonymous SNV S18L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.78 241492 chr11 113561605 113561605 G T rs367586238 TMPRSS5 Synonymous SNV R228R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 241493 chr17 8167851 8167851 G A rs145526163 PFAS Nonsynonymous SNV V661M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.8 241494 chr1 153330771 153330771 A G rs752433720 S100A9 Synonymous SNV K4K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.082 241495 chr17 72368690 72368690 C T rs544945480 GPR142 Nonsynonymous SNV A359V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 241496 chr1 154166214 154166214 - A rs557062636 MIR190B 0 0 0.014 0 0 0 0 4 0 0 0 0 241497 chr17 10416983 10416983 G A rs565550881 MYH1 Synonymous SNV F255F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.33 241498 chr1 156244462 156244462 A C rs202211627 SMG5 Nonsynonymous SNV V157G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.1 241499 chr11 120008203 120008203 G C rs140801392 TRIM29 Nonsynonymous SNV N179K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 241500 chr2 74842232 74842232 T C rs776327626 M1AP Synonymous SNV E95E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.624 241501 chr17 57247126 57247126 A C rs772279880 PRR11 Nonsynonymous SNV K5Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.42 241502 chr20 48522801 48522801 G A rs765401441 SPATA2 Synonymous SNV H306H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.083 241503 chr17 18167133 18167133 C G rs750854608 MIEF2 Nonsynonymous SNV H116D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.404 241504 chr17 18922757 18922757 C T rs769210868 SLC5A10 Synonymous SNV I394I 0 0.005 0 0 0 2 0 0 0 0 0 0 16.59 241505 chr17 19641758 19641758 C T rs763270082 ALDH3A1 Nonsynonymous SNV G409S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 33 241506 chr6 39285728 39285728 C T rs768612699 KCNK16 Nonsynonymous SNV G110E 0.003 0 0 0 4 0 0 0 0 0 0 0 29.3 241507 chr2 98853148 98853148 T C VWA3B Synonymous SNV Y533Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 241508 chr17 67193216 67193216 T A ABCA10 Nonsynonymous SNV E408V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 241509 chr11 124858006 124858006 C T rs59550486 CCDC15 Synonymous SNV D628D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 241510 chr1 160160612 160160612 T A CASQ1 Nonsynonymous SNV V24E 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 241511 chr17 21319251 21319251 C G KCNJ12, KCNJ18 Nonsynonymous SNV N199K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.75 241512 chr11 125703313 125703313 G C rs911441857 PATE4 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 241513 chr1 161953831 161953831 T C rs752972010 OLFML2B Synonymous SNV L630L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.945 241514 chr11 125831662 125831662 G A rs140895899 CDON Synonymous SNV D1196D 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 8.271 241515 chr17 7750186 7750186 - ACC KDM6B P264_L265insP 0 0 0 1 0 0 0.003 0 0 0 0 0 241516 chr17 77808548 77808548 G A rs199853951 CBX4 Nonsynonymous SNV A298V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 8.896 241517 chr11 1262312 1262312 G A rs10835639 MUC5B Nonsynonymous SNV R1401H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 241518 chr11 1276327 1276327 G A rs3829224 MUC5B Nonsynonymous SNV A5241T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.299 241519 chr1 167343435 167343435 G A rs774001310 POU2F1 Nonsynonymous SNV A154T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 241520 chr17 34257233 34257233 C G rs769890154 RDM1 Nonsynonymous SNV Q18H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 241521 chr1 169695924 169695924 A G rs140148143 SELE Synonymous SNV L557L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.084 241522 chr1 17354304 17354306 CTT - SDHB K160del 0 0 0.003 0 0 0 0 1 0 0 0 0 241523 chr1 17743142 17743142 C T RCC2 Nonsynonymous SNV G287E 0 0 0.003 0 0 0 0 1 0 0 0 0 34 241524 chr5 10410374 10410374 C T rs142403172 MARCHF6 Synonymous SNV T454T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.71 241525 chr1 183616912 183616912 C T rs149833216 APOBEC4 Synonymous SNV R335R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.431 241526 chr4 38830027 38830027 C T rs535127887 TLR6 Synonymous SNV K356K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.637 241527 chr1 185173856 185173856 A G rs199654861 SWT1 Nonsynonymous SNV Y565C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 241528 chr5 122426094 122426094 G C PRDM6 Nonsynonymous SNV A129P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 241529 chr17 79204412 79204412 G A rs781165082 TEPSIN Nonsynonymous SNV R321C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 241530 chr1 19524520 19524520 C T UBR4 Synonymous SNV Q224Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 241531 chr3 130095614 130095614 A G COL6A5 Nonsynonymous SNV N201S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.391 241532 chr17 79663741 79663741 C T rs374480236 HGS Synonymous SNV R557R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 241533 chr4 56876009 56876009 C A rs370949834 CEP135 Synonymous SNV I815I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.57 241534 chr5 132648345 132648345 C T rs1039239148 FSTL4 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 241535 chr1 201181974 201181974 C A rs137917527 IGFN1 Synonymous SNV S2651S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 241536 chr17 40557338 40557338 C T rs143511306 CAVIN1 Synonymous SNV E180E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.15 241537 chr5 137321017 137321017 C T FAM13B Nonsynonymous SNV V252M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 241538 chr17 42427099 42427099 G A rs375439809 GRN Nonsynonymous SNV R110Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 0.155 241539 chr11 4112897 4112897 C T rs779108452 STIM1 Nonsynonymous SNV R749C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 241540 chr11 43702476 43702476 C T rs371485299 HSD17B12 Synonymous SNV A33A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 241541 chr18 47373601 47373601 C A rs373704566 MYO5B Synonymous SNV T1458T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.99 241542 chr18 47406796 47406796 A G rs370015773 MYO5B Synonymous SNV A1025A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.35 241543 chr11 44148425 44148425 T C rs61733300 EXT2 Synonymous SNV D366D 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 0.418 241544 chr21 46950716 46950716 G A rs200398944 SLC19A1 Synonymous SNV R333R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.87 241545 chr4 70505137 70505137 G A rs893017433 UGT2A1, UGT2A2 Synonymous SNV P74P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.015 241546 chr11 47264405 47264405 G A rs146415412 ACP2 Nonsynonymous SNV A273V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 241547 chr17 48272974 48272974 C T rs750756697 COL1A1 Nonsynonymous SNV R370H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.2 241548 chr18 19752073 19752078 ACCACC - rs1017227591 GATA6 H332_H333del 0.001 0 0 0 1 0 0 0 0 0 0 0 241549 chr1 212151668 212151668 C A INTS7 Nonsynonymous SNV M423I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 241550 chr1 213031449 213031449 G A FLVCR1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 5.684 241551 chr18 29622161 29622161 G A RNF125 Nonsynonymous SNV R113K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 241552 chr5 148389867 148389867 G A rs199514987 SH3TC2 Nonsynonymous SNV T1098I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 241553 chr18 34664112 34664112 G T rs921531626 KIAA1328 Nonsynonymous SNV K311N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.738 241554 chr18 40853588 40853588 C T rs765872177 SYT4 Nonsynonymous SNV G269E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 241555 chr1 207110576 207110576 G A rs139956478 PIGR Synonymous SNV D303D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.026 241556 chr18 43479527 43479527 C T EPG5 Nonsynonymous SNV A1551T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 241557 chr17 61910349 61910349 C T rs181910740 SMARCD2 Synonymous SNV V515V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.2 241558 chr4 87695572 87695572 T C rs765367977 PTPN13 Nonsynonymous SNV L1608P 0.003 0 0 0 3 0 0 0 0 0 0 0 29.5 241559 chr1 226058783 226058783 G A rs377388952 TMEM63A Nonsynonymous SNV R122C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 241560 chr11 498117 498117 G A rs148207047 RNH1 Synonymous SNV A327A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 241561 chr17 65908229 65908229 A G rs745437922 BPTF Nonsynonymous SNV K1410R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 241562 chr5 157221972 157221972 C T CLINT1 Nonsynonymous SNV A341T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 241563 chr1 228524804 228524804 T C OBSCN Nonsynonymous SNV M5546T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 241564 chr5 161281185 161281185 A G rs76224028 GABRA1 Synonymous SNV Q32Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.404 241565 chr1 229772107 229772107 C G rs139168122 URB2 Nonsynonymous SNV L583V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 241566 chr1 229783300 229783300 C T URB2 Nonsynonymous SNV T1317I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.722 241567 chr1 230846188 230846188 T C rs138340265 AGT Nonsynonymous SNV T137A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 241568 chr18 59824976 59824976 G C rs761973204 PIGN Nonsynonymous SNV P96R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 241569 chr1 222717092 222717092 G T rs757212251 HHIPL2 Nonsynonymous SNV P254H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.7 241570 chr22 32791045 32791045 G A RTCB Nonsynonymous SNV P383S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 241571 chr22 35660939 35660939 G T rs41282603 HMGXB4 Nonsynonymous SNV E77D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 241572 chr1 225580110 225580110 T A rs778691345 DNAH14 Nonsynonymous SNV V4483E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.907 241573 chr1 237777484 237777484 C T rs752684338 RYR2 Nonsynonymous SNV L1686F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 241574 chr5 176520283 176520283 G C rs760787865 FGFR4 Nonsynonymous SNV R401P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 241575 chr22 37602607 37602607 C T SSTR3 Synonymous SNV T412T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.075 241576 chr5 1235669 1235669 C T rs377248815 SLC6A18 Synonymous SNV A171A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 241577 chr1 228003879 228003879 C T rs112241411 PRSS38 Synonymous SNV Y79Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 11.25 241578 chr1 2434167 2434167 C T rs760026809 PLCH2 Nonsynonymous SNV P1066L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 241579 chr18 77875491 77875491 T G ADNP2 Nonsynonymous SNV I22M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 241580 chr19 13220618 13220618 T G TRMT1 Nonsynonymous SNV T352P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.08 241581 chr1 247655088 247655088 G A rs144597938 OR2W5 Nonsynonymous SNV R220H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.596 241582 chr1 248004544 248004544 C T OR11L1 Nonsynonymous SNV V219I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 241583 chr19 14193300 14193300 C T rs750529685 C19orf67 Nonsynonymous SNV E295K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.06 241584 chr19 14199968 14199968 C G SAMD1 Nonsynonymous SNV Q281H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 241585 chr22 44237766 44237766 A T SULT4A1 Synonymous SNV A72A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.003 241586 chr5 13885260 13885260 C T rs370080157 DNAH5 Nonsynonymous SNV V941I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 241587 chr19 15303033 15303033 A G rs760836384 NOTCH3 Synonymous SNV D139D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.042 241588 chr7 150269376 150269376 G T rs199558404 GIMAP4 Nonsynonymous SNV S87I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.162 241589 chr3 40574543 40574543 T C rs376049138 ZNF621 Nonsynonymous SNV S428P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 241590 chr11 562366 562366 C T rs191057277 RASSF7 Nonsynonymous SNV R138C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.121 241591 chr19 1487303 1487303 A T rs140050266 PCSK4 Nonsynonymous SNV M231K 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.6 241592 chr5 37816052 37816052 C T GDNF Nonsynonymous SNV G113S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 241593 chr22 50662665 50662665 C T rs145698752 TUBGCP6 Synonymous SNV Q725Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 13.68 241594 chr22 50720110 50720110 C T rs377737626 PLXNB2 Nonsynonymous SNV R1136H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23.4 241595 chr19 3613405 3613405 C A rs749800704 CACTIN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.708 241596 chr11 57081362 57081362 A G rs755713637 TNKS1BP1 Nonsynonymous SNV I267T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.937 241597 chr7 193763 193763 C G rs761779092 FAM20C Nonsynonymous SNV S188R 0.006 0 0 0 7 0 0 0 0 0 0 0 20.4 241598 chr17 80972333 80972333 C T rs140255493 B3GNTL1 Synonymous SNV S135S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.04 241599 chr1 33282837 33282837 G A YARS Synonymous SNV D3D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 241600 chr2 103040814 103040814 T C rs767996095 IL18RAP Synonymous SNV I173I 0.002 0.008 0 4 2 3 0.01 0 0 0 0 0 2.208 241601 chr19 1792068 1792068 C T rs376979893 ATP8B3 Nonsynonymous SNV E661K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.283 241602 chr1 35370802 35370802 C T rs777237381 DLGAP3 Synonymous SNV G61G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.698 241603 chr3 50326035 50326035 C A IFRD2 Synonymous SNV S441S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.02 241604 chr19 18684104 18684104 C T rs150652049 UBA52 Synonymous SNV D5D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.21 241605 chr19 19680320 19680320 G C rs778805645 PBX4 Nonsynonymous SNV P236A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 241606 chr11 60696362 60696362 C T rs140281492 TMEM132A Nonsynonymous SNV R266W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 241607 chr5 75596649 75596649 A G SV2C Nonsynonymous SNV S578G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 241608 chr2 120385362 120385362 G A rs764150377 CFAP221 Synonymous SNV L550L 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 7.681 241609 chr11 61110265 61110265 - T TKFC Frameshift insertion S273Vfs*49 0.001 0 0 0 1 0 0 0 0 0 0 0 241610 chr19 7584662 7584662 G A ZNF358 Synonymous SNV P178P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 241611 chr5 160059168 160059168 A G rs745441912 ATP10B Nonsynonymous SNV S530P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.48 241612 chr11 61551764 61551764 C T rs370887875 MYRF Synonymous SNV P1029P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 18.81 241613 chr3 57301815 57301815 G C rs142229340 APPL1 Nonsynonymous SNV E630Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 241614 chr18 32392011 32392011 G A rs11877640 DTNA Synonymous SNV T179T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.3 241615 chr3 58156370 58156370 G A rs759652781 FLNB Nonsynonymous SNV V2540I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.53 241616 chr19 8564646 8564646 G C PRAM1 Nonsynonymous SNV R16G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.6 241617 chr11 63141254 63141254 A G rs17654567 SLC22A9 Synonymous SNV T215T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 241618 chr5 96065335 96065335 A C rs778768610 CAST Nonsynonymous SNV Q28P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.849 241619 chr11 637355 637355 G A rs534204857 DRD4 Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.884 241620 chr1 57257734 57257734 G A rs746631780 FYB2 Nonsynonymous SNV A251V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 241621 chr1 33235683 33235683 G T KIAA1522 Synonymous SNV R242R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.321 241622 chr1 35250840 35250840 G A rs61732640 GJB3 Synonymous SNV P159P 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 Benign 0.071 241623 chr11 64756916 64756916 C T rs145280751 BATF2 Synonymous SNV L146L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 241624 chr1 6272006 6272006 G A rs375305088 RNF207 Nonsynonymous SNV V397I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 241625 chr11 64877215 64877215 A G rs771430049 VPS51 Synonymous SNV A566A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.795 241626 chr1 65047890 65047890 C T rs765213692 CACHD1 Nonsynonymous SNV R105W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 241627 chr11 6519561 6519561 A G rs140872512 DNHD1 Nonsynonymous SNV Q39R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 10.16 241628 chr1 39910399 39910399 C T rs369814070 MACF1 Synonymous SNV L4440L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.73 241629 chr4 10084678 10084678 C T rs375965539 WDR1 Synonymous SNV V248V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 15.03 241630 chr2 169721346 169721346 G A rs189095191 NOSTRIN Nonsynonymous SNV D435N 0.001 0.005 0.003 1 1 2 0.003 1 0 0 0 0 26.2 241631 chr18 67406278 67406278 C T rs150709681 DOK6 Nonsynonymous SNV A226V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 241632 chr2 170103481 170103481 T C LRP2 Nonsynonymous SNV N975S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.011 241633 chr1 43692730 43692730 A G rs1020162464 CFAP57 Nonsynonymous SNV K981R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 241634 chr4 108954341 108954341 C G HADH Nonsynonymous SNV S244C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 241635 chr11 6654716 6654716 C G rs369091875 DCHS1 Nonsynonymous SNV Q794H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.89 241636 chr1 45797347 45797347 T C rs984795084 MUTYH Nonsynonymous SNV Q248R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.84 241637 chr19 11558343 11558343 - GAGGAGGAG PRKCSH E325_A326insEEE 0.001 0.003 0 0 1 1 0 0 0 0 0 0 241638 chr11 6942860 6942860 A G rs575282671 OR2D3 Nonsynonymous SNV S210G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 241639 chr11 6976971 6976971 A G rs534474348 ZNF215 Nonsynonymous SNV R17G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 241640 chr19 12866265 12866265 A G rs759214860 BEST2 Nonsynonymous SNV T237A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 241641 chr1 93989872 93989872 A G FNBP1L Nonsynonymous SNV M133V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 241642 chr1 53323191 53323191 C T rs1038468348 ZYG11A Nonsynonymous SNV H260Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 241643 chr19 1045160 1045160 C G rs200410518 ABCA7 Nonsynonymous SNV P459A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.422 241644 chr20 17639846 17639846 T G rs62207199 RRBP1 Nonsynonymous SNV Q436P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.923 241645 chr11 799340 799340 C T rs144262676 PIDD1 Synonymous SNV S900S 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.12 241646 chr19 16666143 16666143 G C SLC35E1 Synonymous SNV A274A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.251 241647 chr20 19981410 19981410 G A rs188424417 RIN2 Nonsynonymous SNV V840I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.88 241648 chr20 22563032 22563032 G T FOXA2 Nonsynonymous SNV A283D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 241649 chr4 169305871 169305871 T C DDX60L Synonymous SNV A1336A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.145 241650 chr20 25442190 25442190 G C rs139278158 NINL Nonsynonymous SNV L873V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 241651 chr19 45028253 45028253 T C rs908712411 CEACAM20 Nonsynonymous SNV I80V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.318 241652 chr20 3103162 3103162 G A UBOX5 Synonymous SNV F41F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.492 241653 chr20 3146679 3146679 T C LZTS3 Nonsynonymous SNV S263G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 241654 chr19 45810826 45810826 - GGTTGGATG rs745487202 CKM N286_L287insPSN 0 0 0 1 0 0 0.003 0 0 0 0 0 241655 chr8 133885342 133885342 C T rs146797579 TG Nonsynonymous SNV L172F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 241656 chr20 33330692 33330692 C G rs140114422 NCOA6 Nonsynonymous SNV S1123T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.271 241657 chr19 7125334 7125334 T C rs748022366 INSR Nonsynonymous SNV N1061S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 241658 chr20 3732439 3732439 G C HSPA12B Nonsynonymous SNV V477L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 241659 chr20 37591040 37591040 C T DHX35 Synonymous SNV F10F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.19 241660 chr20 43115285 43115285 G A TTPAL Nonsynonymous SNV R230Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 241661 chr19 8564430 8564430 C A rs879354850 PRAM1 Nonsynonymous SNV V88F 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 0.027 241662 chr19 8564433 8564454 CAGGCGGCGGGGGCTTCTTGGG - rs751896897 PRAM1 P80Rfs*38 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 241663 chr19 8564459 8564466 TCAGTGAC - rs770285896 PRAM1 V76Pfs*9 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 241664 chr19 8564469 8564474 CAGGCG - rs778454590 PRAM1 P73_E75delinsQ 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 241665 chr19 49657469 49657469 - GCA rs759878242 HRC D342_H343insA 0 0 0 1 0 0 0.003 0 0 0 0 0 241666 chr6 129781361 129781361 G A rs142164767 LAMA2 Nonsynonymous SNV R2295H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 241667 chr4 46258285 46258285 G A rs537466683 GABRA2 Nonsynonymous SNV P334L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 241668 chr6 131602819 131602819 G A rs34796711 AKAP7 Nonsynonymous SNV E67K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 12.85 241669 chr20 10394156 10394156 G A rs779042065 MKKS Nonsynonymous SNV R3C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 28 241670 chr20 55027368 55027368 A G rs771526401 CASS4 Nonsynonymous SNV H325R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 241671 chr19 50393736 50393736 C A IL4I1 Nonsynonymous SNV V299L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 241672 chr19 36259423 36259423 T G rs754215541 PROSER3 Nonsynonymous SNV D473E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 241673 chr19 36275174 36275174 G A rs535794132 ARHGAP33 Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 241674 chr12 120111850 120111850 C T rs142228541 PRKAB1 Synonymous SNV H135H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 241675 chr6 13807172 13807172 A G rs144321128 MCUR1 Synonymous SNV L174L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.199 241676 chr6 38743717 38743717 A G rs375668014 DNAH8 Nonsynonymous SNV N434S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.041 241677 chr19 507762 507762 G A rs920593248 TPGS1 Nonsynonymous SNV E86K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 241678 chr20 57288531 57288531 G A rs368087584 NPEPL1 Nonsynonymous SNV V353M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 241679 chr20 18131481 18131481 T C rs762837697 KAT14 Nonsynonymous SNV M132T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 241680 chr6 41121645 41121645 C T rs372842295 TREML1 Nonsynonymous SNV R76H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 241681 chr6 148865088 148865088 C T rs147972493 SASH1 Nonsynonymous SNV P589S 0.003 0 0 0 3 0 0 0 0 0 0 0 21.8 241682 chr6 150039235 150039235 G A rs531551359 LOC645967 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 241683 chr6 151055053 151055053 C T rs114094417 PLEKHG1 Nonsynonymous SNV A138V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.568 241684 chr6 42204000 42204000 C T rs769705277 TRERF1 Synonymous SNV L1023L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 241685 chr19 5218533 5218533 C T PTPRS Nonsynonymous SNV D885N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 241686 chr2 239049624 239049624 C A rs375615704 KLHL30 Synonymous SNV R77R 0 0.005 0 0 0 2 0 0 0 0 0 0 12.89 241687 chr20 30432756 30432756 G A rs201187679 FOXS1 Nonsynonymous SNV T197M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.691 241688 chr20 62293966 62293966 A G rs762388949 RTEL1 Nonsynonymous SNV S155G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 241689 chr19 40741982 40741982 G A rs188710541 AKT2 Synonymous SNV A287A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 241690 chr4 70512724 70512724 G T UGT2A1 Nonsynonymous SNV F213L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 241691 chr19 53117444 53117444 A G rs919180122 ZNF83 Nonsynonymous SNV I125T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.29 241692 chr6 47847435 47847435 A G rs760436255 PTCHD4 Nonsynonymous SNV I382T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 241693 chr2 24245734 24245734 C T rs771718312 MFSD2B Stop gain Q341X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 241694 chr19 13211887 13211887 C T rs374243329 LYL1 Synonymous SNV K33K 0 0.005 0 0 0 2 0 0 0 0 0 0 7.268 241695 chr19 53518458 53518458 C T rs540326579 ERVV-1 Nonsynonymous SNV A372V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.91 241696 chr12 15095524 15095524 C T rs759500495 ARHGDIB Nonsynonymous SNV D180N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 241697 chr20 35125338 35125338 G A rs373871163 DLGAP4 Nonsynonymous SNV A88T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.746 241698 chr4 76878745 76878745 T A rs750048402 SDAD1 Nonsynonymous SNV R528S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 241699 chr20 35865074 35865074 G A rs148965319 RPN2 Synonymous SNV L458L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.23 241700 chr4 77230937 77230937 T C STBD1 Synonymous SNV H287H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 241701 chr19 54308565 54308565 G A rs762384329 NLRP12 Nonsynonymous SNV R796W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.2 241702 chr12 21965037 21965037 C T rs730880035 ABCC9 Nonsynonymous SNV R1386H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 241703 chr2 27360534 27360534 G A rs3739097 PRR30 Nonsynonymous SNV R222C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 241704 chr12 22354651 22354651 C A rs35306551 ST8SIA1 Nonsynonymous SNV M159I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.32 241705 chr6 64430761 64430761 T C rs757350552 EYS Nonsynonymous SNV I3056V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 241706 chr20 43532651 43532651 T C rs747947370 YWHAB Synonymous SNV Y106Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.56 241707 chr19 45322377 45322377 C T rs28399631 BCAM Synonymous SNV D467D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 241708 chr20 43804672 43804672 G T rs780306943 PI3 Nonsynonymous SNV A84S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.46 241709 chr2 29294710 29294710 G A rs189042259 PCARE Synonymous SNV P806P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.642 241710 chr4 85562068 85562068 A G rs750228683 CDS1 Synonymous SNV T319T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 241711 chr2 32409346 32409346 A G rs143705604 SLC30A6 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 8.181 241712 chr4 87643424 87643424 G A rs781154444 PTPN13 Nonsynonymous SNV R482Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 241713 chr6 84563879 84563879 A T rs201419367 RIPPLY2 Stop gain R80X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 36 241714 chr6 28097670 28097670 G A rs376563405 ZSCAN16 Nonsynonymous SNV R330Q 0.003 0 0 0 4 0 0 0 0 0 0 0 24.8 241715 chr19 47858517 47858517 C T rs774630959 DHX34 Synonymous SNV L309L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.34 241716 chr21 43704706 43704706 G A rs150720995 ABCG1 Synonymous SNV S257S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.98 241717 chr20 49509694 49509694 T C ADNP Synonymous SNV S519S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.07 241718 chr6 90331712 90331712 G A rs372813986 ANKRD6 Synonymous SNV Q229Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.721 241719 chr20 50273554 50273554 C T rs962973080 ATP9A Nonsynonymous SNV G477S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 241720 chr21 45166002 45166002 C T rs77734576 PDXK Nonsynonymous SNV S85L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 241721 chr21 45929149 45929149 A G rs782813421 TSPEAR Nonsynonymous SNV S563P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 241722 chr12 48105506 48105506 T C rs546409433 ENDOU Nonsynonymous SNV Y279C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 241723 chr5 10256095 10256095 G A rs140826112 CCT5 Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 241724 chr19 49575612 49575612 C G KCNA7 Synonymous SNV R77R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 241725 chr12 48596765 48596765 A G rs149225928 OR10AD1 Nonsynonymous SNV F104S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.717 241726 chr12 48962908 48962908 G T rs557923939 LALBA Nonsynonymous SNV S83R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.009 241727 chr2 55570887 55570887 T C rs550950241 CCDC88A Synonymous SNV E410E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 1.854 241728 chr20 60887273 60887273 G A rs755574658 LAMA5 Nonsynonymous SNV H3154Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.7 241729 chr2 58366956 58366956 A G rs552864455 VRK2 Nonsynonymous SNV N220D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.045 241730 chr6 38994438 38994438 C G rs145951114 DNAH8 Nonsynonymous SNV P4394A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 241731 chr6 39158941 39158941 C A KCNK5 Nonsynonymous SNV D409Y 0.002 0 0 0 2 0 0 0 0 0 0 0 32 241732 chr6 39158969 39158969 G A rs111478137 KCNK5 Synonymous SNV S399S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.684 241733 chr12 50747483 50747483 C T rs141648802 FAM186A Synonymous SNV E1044E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.95 241734 chr5 122729109 122729109 T C CEP120 Nonsynonymous SNV N206S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 241735 chr6 41774185 41774185 C T rs756328300 USP49 Synonymous SNV E179E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.237 241736 chr22 18347642 18347642 G A rs186699018 MICAL3 Synonymous SNV G1000G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 241737 chr22 18347687 18347687 G C rs61745410 MICAL3 Synonymous SNV A861A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.077 241738 chr22 19137380 19137380 A G rs531770236 GSC2 Synonymous SNV S103S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.422 241739 chr22 19418979 19418979 G A rs574089166 HIRA Synonymous SNV T7T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.12 241740 chr22 19431831 19431831 G - rs56867241 C22orf39 P129Lfs*77 0 0 0.003 0 0 0 0 1 0 0 0 0 241741 chr22 19504134 19504134 A G rs144764074 CDC45 Nonsynonymous SNV I463V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 241742 chr22 19706150 19706150 C G rs73377941 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 9.734 241743 chr20 61909516 61909516 T G rs762173346 ARFGAP1 Nonsynonymous SNV F111C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.4 241744 chr20 61957026 61957026 C G rs199703564 COL20A1 Nonsynonymous SNV P1119A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.3 241745 chr19 35523454 35523454 C T rs200339565 SCN1B Synonymous SNV C21C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 13.89 241746 chr20 62196535 62196535 G A rs185816655 HELZ2 Nonsynonymous SNV R645C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 241747 chr22 21363407 21363407 C T rs182725803 THAP7-AS1, TUBA3FP 0 0 0.01 0 0 0 0 3 0 0 0 0 6.109 241748 chr5 137045492 137045492 G A KLHL3 Nonsynonymous SNV A31V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 241749 chr12 53008345 53008345 G T rs11170199 KRT73-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.301 241750 chr2 74682640 74682640 G C rs1039168458 INO80B Nonsynonymous SNV D56H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 241751 chr2 74718465 74718465 C T TTC31 Nonsynonymous SNV P216L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.6 241752 chr22 24057339 24057339 C T rs926887764 GUSBP11 0 0 0.003 0 0 0 0 1 0 0 0 0 4.418 241753 chr22 26771570 26771570 G A rs199913295 SEZ6L Nonsynonymous SNV E878K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 241754 chr5 140076811 140076811 A G rs776442890 HARS2 Synonymous SNV A195A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.307 241755 chr22 29694841 29694841 A T rs375087308 EWSR1 Synonymous SNV G456G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.694 241756 chr12 55820094 55820094 G T rs562370919 OR6C76 Synonymous SNV P19P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.061 241757 chr21 31768468 31768468 C T rs549129208 KRTAP13-1 Nonsynonymous SNV P22S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 241758 chr5 140741752 140741752 C T rs779283904 PCDHGB2 Nonsynonymous SNV P684S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.103 241759 chr22 30891403 30891403 A C rs777818809 SEC14L4 Synonymous SNV G87G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 241760 chr6 54025545 54025545 C G rs141526731 MLIP Nonsynonymous SNV S281C 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 24.1 241761 chr6 56006732 56006732 A G rs35583895 COL21A1 Nonsynonymous SNV I492T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 241762 chr22 32767243 32767243 G A rs5998462 RFPL3S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.263 241763 chr6 56426242 56426242 T C rs78484087 DST Nonsynonymous SNV K2102R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.468 241764 chr22 32887147 32887147 C T FBXO7 Nonsynonymous SNV L237F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 241765 chr6 56492845 56492845 A C rs35014998 DST Nonsynonymous SNV N993K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.51 241766 chr5 141384677 141384677 G A rs202180877 GNPDA1 Synonymous SNV I138I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 241767 chr6 56600032 56600032 G A rs113032229 DST Synonymous SNV L49L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 241768 chr12 57324035 57324035 C T rs373500587 SDR9C7 Nonsynonymous SNV V179I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 241769 chr6 56919168 56919168 A G rs767022634 KIAA1586 Nonsynonymous SNV H597R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 241770 chr12 57850242 57850242 A C rs772819150 INHBE Nonsynonymous SNV K222Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.014 241771 chr22 36715672 36715672 G A rs759123154 MYH9 Nonsynonymous SNV R341W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 241772 chr12 58019033 58019033 A G SLC26A10 Nonsynonymous SNV R465G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 241773 chr19 39944002 39944002 G A rs751592720 SUPT5H Nonsynonymous SNV E28K 0.004 0.003 0 0 5 1 0 0 0 0 0 0 21.6 241774 chr12 58126703 58126703 C T rs141167177 AGAP2 Nonsynonymous SNV A537T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 241775 chr12 58159173 58159173 C G rs8176344 CYP27B1 Nonsynonymous SNV V166L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 7.764 241776 chr12 58194954 58194954 A G rs111647711 AVIL Synonymous SNV D731D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.037 241777 chr22 38025495 38025495 G T rs372506535 GGA1 Nonsynonymous SNV G287C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 241778 chr22 38121788 38121788 - C rs768625959 TRIOBP Frameshift insertion R1078Pfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 241779 chr5 149206414 149206414 C T rs559196017 PPARGC1B Nonsynonymous SNV S144L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.433 241780 chr22 38153647 38153647 G A TRIOBP Synonymous SNV A192A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.849 241781 chr5 150436423 150436423 G A rs376731584 TNIP1 Synonymous SNV H124H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.671 241782 chr22 41631324 41631324 C A rs184291323 CHADL Nonsynonymous SNV R696L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.3 241783 chr12 6666740 6666740 T G rs745997812 NOP2 Nonsynonymous SNV S616R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 241784 chr22 41980573 41980573 G A rs140192526 PMM1 Synonymous SNV N80N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 241785 chr12 6859407 6859407 T C rs143195113 MLF2 Nonsynonymous SNV N112S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.96 241786 chr21 45745914 45745914 C T rs756346688 PFKL Nonsynonymous SNV S687L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 241787 chr12 70249140 70249140 T G rs564577444 MYRFL Nonsynonymous SNV L43V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 241788 chr5 153760024 153760024 C G rs540856217 GALNT10 Nonsynonymous SNV N257K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 241789 chr7 142563360 142563360 C T rs372003411 EPHB6 Synonymous SNV S67S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.82 241790 chr22 50316882 50316882 - TGTGGACGAGTG rs573259488 CRELD2 C234_A235insVDEC 0.002 0 0.003 0 2 0 0 1 0 0 0 0 241791 chr5 16668542 16668542 C T rs368812404 MYO10 Synonymous SNV L1973L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 241792 chr5 167545476 167545476 G A rs371610632 TENM2 Nonsynonymous SNV E433K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 241793 chr22 50903740 50903740 C T rs374854877 SBF1 Synonymous SNV A370A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.383 241794 chr19 46027908 46027908 G C VASP Nonsynonymous SNV R346T 0.005 0.003 0 0 6 1 0 0 0 0 0 0 27.7 241795 chr22 51144506 51144506 C T SHANK3 Nonsynonymous SNV P665L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 241796 chr2 101627954 101627955 AG - rs778496824 TBC1D8 L944Vfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 241797 chr1 11252357 11252357 A G rs200058074 ANGPTL7 Nonsynonymous SNV Q136R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 241798 chr2 102818156 102818156 T C rs376417306 IL1RL2 Synonymous SNV N93N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.739 241799 chr19 47422004 47422004 C T rs375605717 ARHGAP35 Synonymous SNV T24T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.731 241800 chr1 113459911 113459911 C T rs200802632 SLC16A1 Nonsynonymous SNV V373I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.72 241801 chr19 47615776 47615776 C T rs776992857 ZC3H4 Synonymous SNV P22P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.17 241802 chr19 48204586 48204586 C G rs751945717 BICRA Nonsynonymous SNV D1199E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 241803 chr19 48229243 48229243 C T rs367574070 EHD2 Nonsynonymous SNV T226M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 241804 chr1 117487396 117487396 G A rs368166849 PTGFRN Nonsynonymous SNV A172T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.36 241805 chr12 96379915 96379915 G A rs569319488 HAL Nonsynonymous SNV R151C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 241806 chr20 3677477 3677477 A G rs146803954 SIGLEC1 Synonymous SNV A813A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 241807 chr20 3804760 3804760 G A rs7269911 AP5S1 Nonsynonymous SNV R140Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 241808 chr12 99020174 99020176 TCT - rs745976866 IKBIP E222del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 241809 chr7 100675332 100675332 G T rs775993341 MUC17 Nonsynonymous SNV S212I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.963 241810 chr5 180278254 180278254 T C rs192511596 ZFP62 Nonsynonymous SNV I81V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 241811 chr9 140245550 140245550 G A rs534532752 EXD3 Synonymous SNV A478A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.571 241812 chr5 32089745 32089746 AC - PDZD2 T2065Sfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 241813 chr13 113980007 113980007 C T rs556818909 GRTP1 Nonsynonymous SNV S297N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.568 241814 chr13 114059772 114059772 G A rs139448172 LOC101928841 Synonymous SNV S911S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.102 241815 chr3 150460129 150460129 G A rs746804822 SIAH2 Synonymous SNV A258A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.13 241816 chr13 114193812 114193812 C T rs147612090 TMCO3 Nonsynonymous SNV R395C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 241817 chr13 21189940 21189940 T A rs200168455 IFT88 Nonsynonymous SNV M355K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.01 241818 chr13 21245174 21245174 C T rs202072254 IFT88 Synonymous SNV S698S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.01 241819 chr7 31682749 31682749 G A rs765198145 ITPRID1 Nonsynonymous SNV V589M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 241820 chr2 152363469 152363469 G A rs370108917 NEB Nonsynonymous SNV T6136M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 241821 chr2 153494185 153494185 T C rs772893968 FMNL2 Synonymous SNV Y981Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.285 241822 chr9 35906601 35906601 - CCGCCACACCCCTCACCACCTCCA HRCT1 P106_H107insRHTPHHLH 0.001 0 0 0 1 0 0 0 0 0 0 0 241823 chr22 39136283 39136283 C G rs117350165 SUN2 Nonsynonymous SNV V470L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.01 241824 chr20 34130291 34130291 G A rs202156592 ERGIC3 Synonymous SNV S63S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 241825 chr13 37011870 37011870 G A rs779594513 CCNA1 Synonymous SNV G133G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.172 241826 chr13 39263661 39263661 G A rs201714905 FREM2 Nonsynonymous SNV R727H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 19.17 241827 chr7 45109433 45109433 G A CCM2 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.947 241828 chr22 42611080 42611080 C G rs753309503 TCF20 Nonsynonymous SNV G78R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 241829 chr7 47342710 47342710 G A rs185351500 TNS3 Nonsynonymous SNV P1099S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.5 241830 chr19 53473288 53473288 T C ZNF702P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.803 241831 chr20 43851059 43851059 A G SEMG2 Synonymous SNV V262V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.316 241832 chr3 189692471 189692471 C - rs778079243 P3H2 G262Vfs*17 0 0.003 0 0 0 1 0 0 0 0 0 0 241833 chr2 179440044 179440044 C T rs55847238 TTN Synonymous SNV V14540V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.4 241834 chr2 179528377 179528377 T A rs200840285 TTN Nonsynonymous SNV E12170V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.1 241835 chr13 61986063 61986063 G A rs537037637 PCDH20 Synonymous SNV S723S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 241836 chr20 47244093 47244093 C T PREX1 Nonsynonymous SNV A1644T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 241837 chr13 76178877 76178877 C T rs200478502 LMO7-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.13 241838 chr13 77838127 77838127 A T rs143069733 MYCBP2 Synonymous SNV T456T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 241839 chr22 50688909 50688909 T C rs148308549 HDAC10 Nonsynonymous SNV K80E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 241840 chr3 24004005 24004006 AA - NR1D2 R278Sfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 241841 chr7 73462020 73462020 C T rs201012726 ELN Nonsynonymous SNV P176L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 241842 chr2 186654168 186654168 G A FSIP2 Nonsynonymous SNV A769T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 241843 chr3 3139610 3139610 G A IL5RA Nonsynonymous SNV S218F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.6 241844 chr22 50959425 50959425 G A rs141411669 NCAPH2 Nonsynonymous SNV R298Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25 241845 chr5 79031589 79031589 C T rs750887444 CMYA5 Nonsynonymous SNV T2334I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 241846 chr7 155556702 155556702 C T rs73502343 RBM33 Nonsynonymous SNV P1059L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 241847 chr20 60854310 60854310 C T rs764391114 OSBPL2 Nonsynonymous SNV H105Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 241848 chr2 190313540 190313540 C A WDR75 Nonsynonymous SNV H2N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.466 241849 chr14 105865710 105865710 G A rs148294225 TEX22 Synonymous SNV K11K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.944 241850 chr14 105936300 105936300 C T rs147974087 MTA1 Synonymous SNV D656D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 241851 chr14 105962276 105962278 CTT - rs368673553 TEDC1 F249del 0.001 0 0 0 1 0 0 0 0 0 0 0 241852 chr14 105995534 105995534 G A rs79790529 TMEM121 Synonymous SNV V121V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.154 241853 chr14 105996119 105996119 C T rs79647036 TMEM121 Synonymous SNV P316P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.395 241854 chr2 105892101 105892101 T C TGFBRAP1 Synonymous SNV E527E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 241855 chr1 173517661 173517661 A G rs781602982 SLC9C2 Nonsynonymous SNV M443T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.83 241856 chr2 203942509 203942509 T G NBEAL1 Nonsynonymous SNV S211R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 241857 chr2 204002961 204002961 G A rs781147771 NBEAL1 Nonsynonymous SNV A1519T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 241858 chr6 101847216 101847216 C T GRIK2 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 241859 chr2 113067569 113067569 C T rs758806203 ZC3H6 Synonymous SNV F148F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.68 241860 chr20 62679713 62679713 C T rs200668348 SOX18 Nonsynonymous SNV D321N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 241861 chr6 107780420 107780420 A G PDSS2 Nonsynonymous SNV W24R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.471 241862 chr2 119750858 119750858 C T rs201844248 MARCO Synonymous SNV L471L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.396 241863 chr7 37780569 37780569 G A rs139160883 GPR141 Nonsynonymous SNV V192I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 241864 chr2 219886503 219886503 G A rs777131235 CFAP65 Synonymous SNV L1043L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.408 241865 chr14 24569343 24569343 C T rs564021964 PCK2 Synonymous SNV G385G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.12 241866 chr20 2297721 2297721 G A rs146227949 TGM3 Nonsynonymous SNV S226N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 241867 chr14 24679661 24679661 A G rs761084506 CHMP4A Nonsynonymous SNV L168P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 241868 chr14 24725217 24725217 T C rs121918724 TGM1 Nonsynonymous SNV D490G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 241869 chr2 220166408 220166408 G A rs139651840 PTPRN Nonsynonymous SNV A343V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 241870 chr2 136873341 136873341 T G rs56400844 CXCR4 Nonsynonymous SNV I57L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 23.2 241871 chr14 24878422 24878422 G A rs746482703 NYNRIN Synonymous SNV S474S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.889 241872 chr1 196648873 196648873 G A CFH Nonsynonymous SNV G247E 0 0 0 1 0 0 0.003 0 0 0 0 0 23 241873 chr2 149501197 149501197 A G EPC2 Nonsynonymous SNV N107S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.177 241874 chr6 136882779 136882779 A G rs781698490 MAP3K5 Synonymous SNV I1293I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.625 241875 chr14 36005025 36005025 C A rs150396167 INSM2 Nonsynonymous SNV Q523K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 241876 chr2 152506778 152506778 C T rs373589529 NEB Nonsynonymous SNV R2448H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 241877 chr20 6017765 6017765 T C rs149380663 CRLS1 Synonymous SNV Y190Y 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 0.035 241878 chr2 230724251 230724251 T C rs754406587 TRIP12 Synonymous SNV P46P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.119 241879 chr14 45579875 45579875 A G rs201073023 PRPF39 Nonsynonymous SNV H476R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.278 241880 chr14 50177028 50177028 G - rs765625964 KLHDC1 I113Sfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 241881 chr20 17623759 17623759 G A rs142618268 RRBP1 Synonymous SNV A642A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 241882 chr14 50750645 50750645 T C rs574500803 L2HGDH Nonsynonymous SNV N216S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.001 241883 chr8 139737673 139737673 C T rs781158584 COL22A1 Nonsynonymous SNV G717E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 241884 chr14 52477614 52477614 G A NID2 Synonymous SNV I1234I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 241885 chr2 235943675 235943675 A G rs200491683 SH3BP4 Nonsynonymous SNV N10S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 241886 chr1 205687603 205687603 C T rs140739406 NUCKS1 Synonymous SNV T179T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 241887 chr2 239184521 239184521 T G rs777381972 PER2 Nonsynonymous SNV K104T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 241888 chr14 59950825 59950825 T C rs760043517 L3HYPDH Synonymous SNV R70R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.122 241889 chr14 59950826 59950826 C A rs767937010 L3HYPDH Nonsynonymous SNV R70L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 241890 chr1 207134107 207134107 C - rs780060252 FCAMR V372Sfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 241891 chr6 157100023 157100023 - GGAGGAGGAGGAGGA ARID1B G328_A329insGGGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 241892 chr2 176957787 176957810 GCGGCGGCGGCGGCAGCGGCGGCT - rs756844068 HOXD13 A64_A71del 0 0 0 1 0 0 0.003 0 0 0 0 0 241893 chr22 18570833 18570833 C T rs772069004 PEX26 Nonsynonymous SNV R304C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 241894 chr2 241862057 241862057 G C CROCC2 Nonsynonymous SNV E161D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 241895 chr22 20761111 20761111 C T rs569785100 ZNF74 Synonymous SNV Y525Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.254 241896 chr22 20761112 20761112 T A rs199810912 ZNF74 Nonsynonymous SNV Y526N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 241897 chr2 179658145 179658145 C T rs547496340 TTN Nonsynonymous SNV V508I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.84 241898 chr14 64988665 64988665 C T ZBTB1 Nonsynonymous SNV T148I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 241899 chr7 92099619 92099619 C T rs776180083 ERVW-1 Nonsynonymous SNV R26H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 241900 chr14 69805448 69805448 C T rs376166666 GALNT16 Nonsynonymous SNV R350W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 241901 chr7 99753395 99753395 C T rs146291519 MAP11 Nonsynonymous SNV V163I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.92 241902 chr14 72961938 72961938 C T rs139840364 RGS6 Synonymous SNV S276S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.17 241903 chr22 24837364 24837364 C T rs57136652 ADORA2A Synonymous SNV D382D 0.003 0 0 0 3 0 0 0 0 0 0 0 9.782 241904 chr22 25115459 25115459 T G rs150288142 PIWIL3 Nonsynonymous SNV T877P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 241905 chr6 166779540 166779540 C T rs201142077 MPC1 Nonsynonymous SNV R33Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 241906 chr2 27597979 27597979 C T rs770828684 SNX17 Nonsynonymous SNV R220W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 241907 chr6 168377010 168377010 G T rs9364374 HGC6.3 Nonsynonymous SNV P108Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.644 241908 chr4 113189496 113189496 T A AP1AR Nonsynonymous SNV F247L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 241909 chr2 29297025 29297025 C T rs187178339 PCARE Nonsynonymous SNV G35R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.989 241910 chr8 17159718 17159718 A G rs117739013 MTMR7 Nonsynonymous SNV M522T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 241911 chr1 220089133 220089133 A C SLC30A10 Nonsynonymous SNV H372Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 241912 chr2 31010108 31010108 G A rs138389561 CAPN13 Synonymous SNV C28C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.618 241913 chr4 120166517 120166517 G A rs932374125 USP53 Nonsynonymous SNV R57Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 241914 chr22 30069341 30069341 C T rs137953976 NF2 Synonymous SNV A319A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.16 241915 chr8 11412934 11412934 G A rs141865425 BLK Nonsynonymous SNV R167Q 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 33 241916 chr2 3727464 3727464 G T rs374089815 ALLC Nonsynonymous SNV D60Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 241917 chr1 2235524 2235524 T C SKI Nonsynonymous SNV V486A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.04 241918 chr14 79111584 79111584 C T rs369075241 NRXN3 Synonymous SNV N293N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 241919 chr20 56993342 56993342 A G VAPB Nonsynonymous SNV K45R 0 0.003 0 0 0 1 0 0 0 0 0 0 28 241920 chr14 89154666 89154666 T C rs777111206 EML5 Synonymous SNV K897K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.516 241921 chr20 57470728 57470728 G A rs375763287 GNAS Synonymous SNV G67G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.09 241922 chr1 227078995 227078995 G T rs6426553 PSEN2 Synonymous SNV T301T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 11.52 241923 chr6 3015830 3015830 G A NQO2 Nonsynonymous SNV G124S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.9 241924 chr8 24257709 24257709 T G rs139397711 ADAMDEC1 Synonymous SNV L267L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.605 241925 chr14 94394909 94394909 G C rs533878313 FAM181A Nonsynonymous SNV G93A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.487 241926 chr2 55177810 55177810 T C rs190613764 EML6 Synonymous SNV F1369F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.901 241927 chr6 33648356 33648356 G A rs755225284 ITPR3 Nonsynonymous SNV V1459M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 241928 chr8 27507233 27507233 G A rs201265256 SCARA3 Nonsynonymous SNV G8S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.15 241929 chr2 65559158 65559158 T C SPRED2 Nonsynonymous SNV H131R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 241930 chr6 35773765 35773765 C T rs555687906 LHFPL5 Synonymous SNV F106F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 241931 chr6 36196724 36196724 G A rs945964518 BRPF3 Nonsynonymous SNV V1109I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 241932 chr1 229771555 229771555 A T URB2 Nonsynonymous SNV N399Y 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 241933 chr8 142200408 142200408 G A rs761083003 DENND3 Nonsynonymous SNV G1091S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 241934 chr22 41613206 41613206 C T rs779290651 L3MBTL2 Synonymous SNV H200H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 241935 chr15 102192517 102192517 G T rs368849859 TM2D3 Synonymous SNV R16R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.443 241936 chr15 22851039 22851039 C G rs770033949 TUBGCP5 Nonsynonymous SNV S434C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 241937 chr6 38738237 38738237 A G rs1032074595 DNAH8 Nonsynonymous SNV R339G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 241938 chr2 219257775 219257775 C T rs765250211 SLC11A1 Synonymous SNV T412T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.02 241939 chr2 73226111 73226111 G A rs769606252 SFXN5 Nonsynonymous SNV T24I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.884 241940 chr20 62863586 62863586 C T rs140949231 MYT1 Synonymous SNV S915S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.89 241941 chr22 43996057 43996057 G C rs370218773 EFCAB6 Nonsynonymous SNV P771R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 241942 chr15 33445929 33445929 G A rs200088104 FMN1 Nonsynonymous SNV S396L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.979 241943 chr15 33952475 33952475 C T rs61996324 RYR3 Synonymous SNV D1491D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.25 241944 chr15 40226505 40226505 G A EIF2AK4 Nonsynonymous SNV D37N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28 241945 chr15 40308822 40308822 A C EIF2AK4 Nonsynonymous SNV K1293N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 241946 chr1 2411637 2411637 G A rs769610458 PLCH2 Synonymous SNV T150T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.284 241947 chr22 47569260 47569260 C T rs148728745 TBC1D22A Synonymous SNV Y437Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 241948 chr1 36297049 36297049 C T rs572012909 AGO4 Synonymous SNV N290N 0 0.005 0 0 0 2 0 0 0 0 0 0 11.71 241949 chr2 9661345 9661345 T C ADAM17 Nonsynonymous SNV K315R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 241950 chr8 87460433 87460433 T C rs139392205 WWP1 Synonymous SNV R685R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.802 241951 chr21 43979167 43979167 G A rs201802080 SLC37A1 Nonsynonymous SNV A317T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 241952 chr21 44324046 44324046 G A rs192664588 NDUFV3 Synonymous SNV A308A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.052 241953 chr15 45448081 45448081 G A rs138894830 DUOX1 Nonsynonymous SNV R1219Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 241954 chr21 46308800 46308800 C T rs2230531 ITGB2 Nonsynonymous SNV E630K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 29.6 241955 chrX 40496395 40496395 C T rs376500009 CXorf38 Nonsynonymous SNV R43H 0.002 0 0 0 2 0 0 0 1 0 0 0 34 241956 chr3 122284883 122284883 A G rs768963281 DTX3L Nonsynonymous SNV H122R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 241957 chr2 239056541 239056541 G T rs371270006 KLHL30 Nonsynonymous SNV S406I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 241958 chr15 52510748 52510748 G T rs201307143 MYO5C Nonsynonymous SNV Q1308K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 241959 chr21 47422230 47422230 G A rs758242849 COL6A1 Nonsynonymous SNV R722H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 241960 chr15 52529717 52529717 C T rs199903966 MYO5C Nonsynonymous SNV E944K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 241961 chr2 241511938 241511938 C T rs559472405 RNPEPL1 Synonymous SNV F209F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.981 241962 chrX 54777770 54777770 C T rs917219668 ITIH6 Synonymous SNV P1132P 0.002 0 0 0 2 0 0 0 1 0 0 0 15.39 241963 chr1 26665917 26665917 A G CRYBG2 Nonsynonymous SNV Y1070H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 241964 chr8 25193781 25193781 A G rs141305711 DOCK5 Nonsynonymous SNV Y740C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 241965 chr3 124456653 124456653 C T rs913514809 UMPS Synonymous SNV L183L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 241966 chr15 56208141 56208141 G A NEDD4 Nonsynonymous SNV H297Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 241967 chr7 100086658 100086658 G A NYAP1 Synonymous SNV A438A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.446 241968 chr7 100463812 100463812 C T rs778633195 SLC12A9 Nonsynonymous SNV A634V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 241969 chr2 25851164 25851164 G A rs773276883 DTNB Nonsynonymous SNV R23C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 241970 chr8 30704783 30704783 G A rs367731089 TEX15 Nonsynonymous SNV T967M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 241971 chr8 4494917 4494917 A G rs201167722 CSMD1 Synonymous SNV F83F 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 9.149 241972 chr2 27870748 27870748 G A rs563707015 GPN1 Nonsynonymous SNV R231Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 241973 chr8 55047855 55047855 - T MRPL15 Frameshift insertion L5Ffs*43 0.002 0 0 1 2 0 0.003 0 0 0 0 0 241974 chr3 134327503 134327503 T A rs189059675 KY Nonsynonymous SNV M318L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.007 241975 chr3 136708282 136708282 G A rs189636171 IL20RB 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 241976 chr2 31587093 31587093 A G rs746770781 XDH Synonymous SNV T854T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.997 241977 chrX 153051902 153051902 A C IDH3G Synonymous SNV A309A 0.002 0 0 0 2 0 0 0 1 0 0 0 7.326 241978 chr4 73434423 73434423 T C rs151177298 ADAMTS3 Synonymous SNV S19S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.097 241979 chr3 145796925 145796925 A T rs780359513 PLOD2 Nonsynonymous SNV L493H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 241980 chr15 74707189 74707189 C T rs143621767 SEMA7A Nonsynonymous SNV R348Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 241981 chr2 39156123 39156123 G A ARHGEF33 Nonsynonymous SNV E51K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 241982 chr7 100859735 100859735 C T rs779966878 PLOD3 Synonymous SNV E98E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.21 241983 chr8 81400006 81400006 G A rs199498627 ZBTB10 Nonsynonymous SNV A321T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25 241984 chr3 153909148 153909148 A G ARHGEF26 Nonsynonymous SNV M571V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 241985 chr9 134366902 134366902 G A rs141505870 PRRC2B Nonsynonymous SNV V2106I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 241986 chr8 95390587 95390587 T C RAD54B Nonsynonymous SNV Y595C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.2 241987 chr15 81224350 81224350 C T rs371824221 CEMIP Synonymous SNV N921N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 241988 chr15 81440818 81440818 C T rs2279997 CFAP161 Nonsynonymous SNV P284S 0.004 0 0 0 5 0 0 0 0 0 0 0 23.2 241989 chr22 37261097 37261097 C A rs112306225 NCF4 Nonsynonymous SNV T85N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 7.586 241990 chr22 37266366 37266366 G A rs190569542 NCF4-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.948 241991 chr15 81625593 81625593 C T rs140203489 TMC3 Nonsynonymous SNV G824S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.312 241992 chr4 8411989 8411989 G A rs747645442 ACOX3 Synonymous SNV L213L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.616 241993 chr2 5833738 5833738 C G SOX11 Nonsynonymous SNV D295E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.92 241994 chr1 54605318 54605318 - GCG CDCP2 P408_M409insR 0.001 0 0 2 1 0 0.005 0 0 0 0 0 241995 chr15 85384116 85384116 C T rs560231523 ALPK3 Nonsynonymous SNV R536W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 241996 chr15 86790990 86790990 C T rs79994825 AGBL1 Synonymous SNV N205N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 241997 chr15 86838537 86838537 C T rs545196930 AGBL1 Nonsynonymous SNV R758W 0.004 0 0 0 5 0 0 0 0 0 0 0 34 241998 chr1 62149188 62149188 T A rs769747621 TM2D1 Nonsynonymous SNV I182F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 241999 chr15 89173292 89173292 G A rs372899718 AEN Nonsynonymous SNV G249S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 242000 chr15 89173480 89173480 C T rs369014614 AEN Synonymous SNV H311H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.758 242001 chr15 89198722 89198722 G A rs370675181 ISG20 Nonsynonymous SNV R158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 242002 chr3 184064491 184064491 G A rs778127158 CLCN2 Nonsynonymous SNV T823M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26 242003 chr22 41556667 41556667 T C rs758126148 EP300 Synonymous SNV C1178C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.047 242004 chr2 71626704 71626704 A G rs148370960 ZNF638 Nonsynonymous SNV K839R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.5 242005 chr3 185766544 185766544 A C ETV5 Nonsynonymous SNV C473G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.955 242006 chr2 71709050 71709050 C A DYSF Synonymous SNV G63G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.75 242007 chr3 188956579 188956579 C G rs757735288 TPRG1 Synonymous SNV L120L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 242008 chr15 90347148 90347148 G C rs144282919 ANPEP Nonsynonymous SNV A422G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 26 242009 chr15 90348434 90348434 G T rs146926671 ANPEP Nonsynonymous SNV L258I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 0.07 242010 chr2 74787285 74787285 G A rs200875527 M1AP Nonsynonymous SNV P472L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 242011 chr3 194169223 194169223 G A rs185170011 ATP13A3 Synonymous SNV Y371Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.402 242012 chr22 46655929 46655929 A T rs780227940 PKDREJ Synonymous SNV I1097I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.052 242013 chr9 18777826 18777826 T C ADAMTSL1 Nonsynonymous SNV L1200P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 242014 chr3 20027067 20027067 T C rs1043971708 PP2D1 Synonymous SNV K566K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.976 242015 chr22 50921078 50921078 G A ADM2 Nonsynonymous SNV A65T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 242016 chr2 99439940 99439940 C T rs557905657 KIAA1211L Nonsynonymous SNV E266K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 242017 chr16 1256259 1256259 C T rs59052554 CACNA1H Nonsynonymous SNV T920M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.5 242018 chr16 1268337 1268337 T C rs762026113 CACNA1H Nonsynonymous SNV V1852A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 242019 chr9 33113553 33113553 T A rs377678566 B4GALT1 Nonsynonymous SNV M366L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.68 242020 chr16 15812241 15812241 C G rs144421849 MYH11 Nonsynonymous SNV E1742D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 242021 chr16 15826541 15826541 C T rs149980738 MYH11 Synonymous SNV T1177T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.36 242022 chr3 38770259 38770259 C A rs779733116 SCN10A Nonsynonymous SNV G707V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 32 242023 chrX 14748509 14748509 A G rs200619146 GLRA2 Nonsynonymous SNV I421V 0 0.005 0 0 0 2 0 0 0 1 0 0 4.209 242024 chr3 39230720 39230720 C T rs149108228 XIRP1 Nonsynonymous SNV V73M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 242025 chr3 40468925 40468925 G T ENTPD3 Nonsynonymous SNV A506S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.39 242026 chr1 91781392 91781392 T G rs142253234 HFM1 Synonymous SNV V1040V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.897 242027 chr16 1825385 1825385 C T EME2 Synonymous SNV A213A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 242028 chr9 131105469 131105469 C G rs374100993 SLC27A4 Nonsynonymous SNV L20V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.54 242029 chr9 5968745 5968745 T C rs768216570 KIAA2026 Nonsynonymous SNV I496V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 242030 chr3 115395430 115395430 G A rs201586033 GAP43 Nonsynonymous SNV E201K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 242031 chrX 38525530 38525530 T C rs7049247 TSPAN7 Synonymous SNV A79A 0.001 0.005 0.007 0 1 2 0 2 0 1 1 0 Benign 7.55 242032 chrX 41586467 41586467 T - rs775090649 GPR82 V64Cfs*8 0 0.005 0 0 0 2 0 0 0 1 0 0 242033 chrX 48887955 48887955 C A rs782619958 TFE3 Nonsynonymous SNV G376V 0 0.005 0 0 0 2 0 0 0 1 0 0 23.4 242034 chrX 51151329 51151329 G A EZHIP Synonymous SNV E487E 0 0.005 0 0 0 2 0 0 0 1 0 0 4.528 242035 chr7 23224772 23224772 - G rs758695627 NUP42 Frameshift insertion S72Qfs*13 0.001 0 0 1 1 0 0.003 0 0 0 0 0 242036 chrX 71904428 71904428 G C PHKA1 Nonsynonymous SNV L153V 0 0.005 0 0 0 2 0 0 0 1 0 0 25.1 242037 chrX 76764054 76764054 G A rs782527659 ATRX Synonymous SNV Y2380Y 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign 0.036 242038 chr16 24788387 24788387 G A rs377447808 TNRC6A Synonymous SNV Q99Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.47 242039 chr9 87338515 87338515 C A rs139913267 NTRK2 Nonsynonymous SNV P48H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 242040 chr3 46874680 46874680 C T PRSS42P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 242041 chr3 47038485 47038485 T C NBEAL2 Synonymous SNV H832H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.933 242042 chr16 24950724 24950724 G A rs140774879 ARHGAP17 Nonsynonymous SNV A562V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 242043 chr9 90584111 90584111 T C rs372790696 CDK20 Nonsynonymous SNV K260E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.334 242044 chr3 123167154 123167156 TCG - rs754577305 ADCY5 D80del 0 0 0 1 0 0 0.003 0 0 0 0 0 242045 chrX 104463843 104463843 A G rs377104623 TEX13A Nonsynonymous SNV S345P 0 0.005 0 0 0 2 0 0 0 1 0 0 23.2 242046 chr16 27689314 27689314 A - rs773853289 KIAA0556 S270Vfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 242047 chr16 27761463 27761463 C - KIAA0556 I1062Lfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 242048 chrX 107431780 107431780 G A rs369767156 COL4A6 Synonymous SNV G518G 0 0.005 0 0 0 2 0 0 0 1 0 0 6.554 242049 chrX 114425130 114425130 G A RBMXL3 Nonsynonymous SNV G376S 0 0.005 0 0 0 2 0 0 0 1 0 0 0.002 242050 chr3 49053108 49053108 G A DALRD3 Nonsynonymous SNV R507C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 242051 chr7 33060899 33060899 G A NT5C3A Nonsynonymous SNV P109L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 242052 chr9 136596517 136596517 G A rs151244454 SARDH Synonymous SNV Y200Y 0.005 0 0 0 6 0 0 0 0 0 0 0 4.842 242053 chr16 30748905 30748905 C T rs746031226 SRCAP Nonsynonymous SNV P2515L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.919 242054 chr3 51430559 51430559 C A rs372043035 RBM15B Nonsynonymous SNV R577S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 242055 chrX 139586556 139586556 A G SOX3 Nonsynonymous SNV S224P 0 0.005 0 0 0 2 0 0 0 1 0 0 12.95 242056 chr3 51989779 51989779 C G GPR62 Synonymous SNV V37V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 242057 chr3 52551107 52551107 G A rs757159557 STAB1 Nonsynonymous SNV D1491N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 242058 chr3 52840342 52840342 C T rs199731246 ITIH3 Nonsynonymous SNV P659L 0 0 0.003 0 0 0 0 1 0 0 0 0 26 242059 chr3 53880666 53880666 C T rs766750420 IL17RB Synonymous SNV P17P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 242060 chr16 48209298 48209298 C T rs137950991 ABCC11 Nonsynonymous SNV R1190H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 242061 chr16 48256632 48256632 C G rs373583860 ABCC11 Synonymous SNV L218L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.4 242062 chr5 175926081 175926081 C T rs143992325 FAF2 Nonsynonymous SNV R336W 0.002 0.008 0 1 2 3 0.003 0 0 0 0 0 29.1 242063 chr16 56864512 56864512 G A rs145578512 NUP93 Nonsynonymous SNV A211T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 242064 chr9 26892486 26892486 C G rs199844079 CAAP1 Synonymous SNV G76G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.633 242065 chr16 57075962 57075962 C A rs117840561 NLRC5 Nonsynonymous SNV A1033D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 242066 chr16 57504998 57504998 C T rs370789808 POLR2C Synonymous SNV H265H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 242067 chr3 99567289 99567289 A G rs372920695 FILIP1L Synonymous SNV P837P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 242068 chr20 37580833 37580833 G A FAM83D Synonymous SNV K476K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 242069 chr4 100458840 100458840 C G rs34271979 C4orf17 Synonymous SNV L187L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.63 242070 chr3 158541971 158541971 C G rs372091495 MFSD1 Nonsynonymous SNV L373V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.827 242071 chrX 48681556 48681556 G T rs200111431 HDAC6 Nonsynonymous SNV G916V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.07 242072 chrX 49075820 49075820 G A CACNA1F Nonsynonymous SNV A878V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 242073 chrX 53573716 53573716 A G rs150358853 HUWE1 Synonymous SNV F3569F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.645 242074 chr7 80418701 80418701 A C rs755717781 SEMA3C Synonymous SNV T443T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.538 242075 chrX 63444712 63444712 G T rs141374514 ASB12 Synonymous SNV A273A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.762 242076 chr4 113567760 113567760 C T rs200393300 LARP7 Nonsynonymous SNV T107I 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 23 242077 chr20 47845262 47845262 C T rs238166 DDX27 Synonymous SNV A270A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.2 242078 chr20 47864757 47864757 G A rs181137609 ZNFX1 Nonsynonymous SNV R1602C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 242079 chrX 74649030 74649030 A G rs762749423 ZDHHC15 Synonymous SNV V153V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.971 242080 chr16 75563732 75563732 C T rs201072221 CHST5 Nonsynonymous SNV R184Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 242081 chr4 122747022 122747022 G T rs775478831 BBS7 Nonsynonymous SNV A714E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 242082 chr4 128595336 128595336 C G INTU Nonsynonymous SNV D383E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 242083 chr16 81045604 81045604 A G rs942140005 CENPN Synonymous SNV E20E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.762 242084 chr1 17594456 17594456 C T rs142357785 PADI3 Synonymous SNV C217C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.612 242085 chr4 130003525 130003525 C T rs375916585 SCLT1 Nonsynonymous SNV R13Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 242086 chr16 83991244 83991244 G C OSGIN1 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 242087 chr16 84203631 84203631 G A rs775507447 DNAAF1 Synonymous SNV P163P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 4.868 242088 chr20 60907463 60907463 C T rs780809601 LAMA5 Nonsynonymous SNV V1173M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 242089 chr3 195516736 195516736 C T MUC4 Nonsynonymous SNV G572E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.37 242090 chr8 113253974 113253974 C A rs149077281 CSMD3 Synonymous SNV L3281L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 242091 chr3 196674832 196674832 G A rs61729254 PIGZ Synonymous SNV H312H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 242092 chr8 120795669 120795669 C T TAF2 Synonymous SNV E688E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 242093 chr4 166976307 166976307 G A rs200511852 TLL1 Nonsynonymous SNV R535H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 242094 chr3 25835862 25835862 A G rs755494005 OXSM Synonymous SNV E419E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.316 242095 chr1 25883729 25883729 - A rs750383461 LDLRAP1 Frameshift insertion H144Qfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 242096 chr16 88781637 88781637 A G rs773387253 CTU2 Nonsynonymous SNV D422G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 242097 chr3 33175725 33175725 T C rs761475787 CRTAP Nonsynonymous SNV F374L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 242098 chr4 177142702 177142702 G A rs143450675 ASB5 Nonsynonymous SNV S145F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.4 242099 chr16 88805244 88805244 C T LOC100289580 0.001 0 0 0 1 0 0 0 0 0 0 0 6.06 242100 chrX 150906999 150906999 A C rs142562634 CNGA2 Nonsynonymous SNV N15T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.035 242101 chr16 88893182 88893182 G A rs1017572961 GALNS Nonsynonymous SNV T171M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.13 242102 chr21 22696803 22696803 C T rs372783673 NCAM2 Synonymous SNV P98P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.57 242103 chr1 27995021 27995021 C T rs775188955 IFI6 Synonymous SNV S32S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 242104 chr16 8952230 8952230 G A rs141833541 CARHSP1 Synonymous SNV P86P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.46 242105 chr3 39188053 39188053 G A rs150285879 CSRNP1 Nonsynonymous SNV R61C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 23.9 242106 chr5 90059213 90059213 G A rs202190568 ADGRV1 Nonsynonymous SNV R4071Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.56 242107 chr21 33651095 33651095 C A MIS18A Nonsynonymous SNV E77D 0 0 0 1 0 0 0.003 0 0 0 0 0 22 242108 chr17 10354723 10354723 T G MYH4 Nonsynonymous SNV E1262A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 242109 chr4 25398369 25398369 A G rs148354654 ANAPC4 Nonsynonymous SNV D382G 0 0 0.003 0 0 0 0 1 0 0 0 0 31 242110 chr17 12920185 12920185 A C rs200893345 ELAC2 Nonsynonymous SNV L121V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 242111 chr8 144403510 144403510 T C TOP1MT Nonsynonymous SNV D238G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 242112 chr17 1382774 1382774 G A rs565274883 MYO1C Nonsynonymous SNV T348M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 242113 chrX 48545204 48545204 G A rs376545922 WAS Synonymous SNV A198A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.54 242114 chrX 50381178 50381178 T C rs782034859 SHROOM4 Nonsynonymous SNV T134A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.96 242115 chr4 39308293 39308293 A G rs141794416 RFC1 Synonymous SNV D612D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 242116 chr8 145095307 145095307 G A rs78691068 SPATC1 Nonsynonymous SNV G237R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 242117 chr10 16553050 16553050 G A rs145578951 PTER Nonsynonymous SNV R133H 0.003 0.005 0.003 1 3 2 0.003 1 0 0 0 0 19.77 242118 chr17 18149264 18149264 G T rs746481063 FLII Nonsynonymous SNV T1072N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.83 242119 chr3 48690599 48690599 C T rs141484230 CELSR3 Nonsynonymous SNV V1824M 0 0 0 1 0 0 0.003 0 0 0 0 0 17.98 242120 chrX 76856021 76856021 T C rs45439799 ATRX Nonsynonymous SNV N1822S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.241 242121 chr17 19319211 19319211 C T rs544808951 RNF112 Nonsynonymous SNV T540M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.6 242122 chr1 45292411 45292411 G C PTCH2 Nonsynonymous SNV Q909E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 242123 chr3 51697367 51697367 C T rs370181135 RAD54L2 Synonymous SNV A1445A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.01 242124 chr8 146278070 146278070 C T C8orf33 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 242125 chr21 47545959 47545959 T G COL6A2 Nonsynonymous SNV L744V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 242126 chr1 52704474 52704474 T A rs747056667 ZFYVE9 Nonsynonymous SNV F462Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 242127 chr17 2237873 2237873 C T rs542045027 TSR1 Nonsynonymous SNV V292I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.197 242128 chr17 2598569 2598569 G A rs372976014 CLUH Synonymous SNV I850I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.31 242129 chr6 138613087 138613087 C T rs1030633854 ARFGEF3 Nonsynonymous SNV R1089W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 242130 chr17 27031822 27031822 T A rs916044523 PROCA1 Nonsynonymous SNV K18M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 242131 chr17 27076442 27076442 A G rs370893083 TRAF4 Synonymous SNV P420P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 242132 chr3 62739313 62739313 C G CADPS Nonsynonymous SNV E231Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 242133 chr1 6528465 6528465 G A rs538561788 PLEKHG5 Nonsynonymous SNV R811C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 31 242134 chr2 16082867 16082867 C T rs768404232 MYCN Synonymous SNV A227A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 12.5 242135 chr2 17697216 17697216 C T rs200839059 RAD51AP2 Nonsynonymous SNV E823K 0.006 0.008 0.003 0 7 3 0 1 0 0 0 0 19.91 242136 chr22 24122785 24122785 G A rs199597366 MMP11 Nonsynonymous SNV D167N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.1 242137 chr4 8079385 8079385 A G rs202211361 ABLIM2 Synonymous SNV C215C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.575 242138 chr8 28385354 28385354 C T rs371916844 FZD3 Synonymous SNV G359G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 242139 chr22 25152631 25152631 G C PIWIL3 Nonsynonymous SNV R133G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 242140 chr2 26357828 26357828 A C RAB10 Nonsynonymous SNV S181R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.22 242141 chr17 35300305 35300305 C T rs75973369 LHX1 Synonymous SNV H366H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.875 242142 chr4 85419292 85419292 C T rs765489962 NKX6-1 Synonymous SNV E30E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 242143 chr4 87691004 87691004 G A rs368544994 PTPN13 Synonymous SNV E1333E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.061 242144 chr2 27535641 27535641 T G MPV17 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 242145 chr4 104512680 104512680 A G rs779352098 TACR3 Nonsynonymous SNV M350T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.6 242146 chr8 59750709 59750709 G A rs759507736 TOX Synonymous SNV N285N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.942 242147 chr10 70332694 70332694 A T rs138243324 TET1 Nonsynonymous SNV K200M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.3 242148 chr5 10450200 10450200 C T rs199968007 ROPN1L Nonsynonymous SNV A131V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 242149 chr4 113359752 113359752 G A rs61163026 ALPK1 Nonsynonymous SNV E1023K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 242150 chr22 32992674 32992674 C T rs139005191 SYN3 Nonsynonymous SNV A254T 0 0 0 1 0 0 0.003 0 0 0 0 0 27 242151 chr5 115813826 115813826 G C rs931729884 SEMA6A Nonsynonymous SNV D484E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 242152 chr17 39635632 39635632 C A rs769141481 KRT35 Nonsynonymous SNV E226D 0.002 0 0 0 2 0 0 0 1 0 0 0 24.9 242153 chr4 125631394 125631394 T C rs142377143 ANKRD50 Synonymous SNV L91L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.797 242154 chr17 39959660 39959660 C T rs140569813 P3H4 Synonymous SNV P390P 0.002 0 0 0 2 0 0 0 1 0 0 0 12.89 242155 chr1 109200109 109200109 G A rs111789685 HENMT1 Synonymous SNV F38F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.02 242156 chr1 109238329 109238329 G A rs140358618 PRPF38B Synonymous SNV T94T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.78 242157 chr2 48874007 48874007 T C rs61755886 GTF2A1L, STON1-GTF2A1L Synonymous SNV A234A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.107 242158 chr1 109794393 109794393 G A CELSR2 Synonymous SNV V564V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.214 242159 chr22 41632541 41632541 G A rs1055665907 CHADL Synonymous SNV I670I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.93 242160 chr2 55254296 55254296 G A rs765849064 RTN4 Synonymous SNV A107A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.492 242161 chr17 42254454 42254454 C A rs564483576 ASB16 Stop gain Y306X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 242162 chr17 42336694 42336694 T A rs571740084 SLC4A1 Nonsynonymous SNV E238V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 242163 chr1 26513710 26513710 G A rs770174021 CNKSR1 Nonsynonymous SNV G461R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 242164 chr17 4449228 4449228 C T rs78265875 MYBBP1A Nonsynonymous SNV E612K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 242165 chr1 116206407 116206407 C T rs41275546 VANGL1 Synonymous SNV Y108Y 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Benign/Likely benign 9.791 242166 chr1 119958097 119958097 G A rs143169543 HSD3B2 Nonsynonymous SNV V19I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 242167 chr22 50192736 50192736 T G rs925977074 BRD1 Nonsynonymous SNV K519T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 242168 chr4 162307395 162307395 G A rs1016322607 FSTL5 Nonsynonymous SNV T673I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 242169 chr1 33292168 33292168 T C S100PBP Synonymous SNV C156C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.148 242170 chr2 73613037 73613037 - GGAGGAGGAGGA ALMS1 E28_A29insEEEE 0 0.003 0 0 0 1 0 0 0 0 0 0 242171 chr17 48545887 48545887 G T CHAD Synonymous SNV R96R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 242172 chr17 48560034 48560034 T C rs139217297 RSAD1 Nonsynonymous SNV W291R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 242173 chr17 48618917 48618917 C T rs577533916 EPN3 Synonymous SNV L483L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 242174 chr4 18023312 18023312 - GCGGCGGCGGCGGCGGCAGCA LCORL A22_Q23insAAAAAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 242175 chr17 56620297 56620297 G A rs540880360 SEPTIN4 Synonymous SNV S417S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 242176 chr17 58740529 58740529 C T rs146477590 PPM1D Synonymous SNV C478C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.1 242177 chr5 150905447 150905447 G A rs758888520 FAT2 Nonsynonymous SNV S3463L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 242178 chr1 154956520 154956520 T C rs751960963 FLAD1 Nonsynonymous SNV I117T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 242179 chr1 155920739 155920739 C T rs759637676 ARHGEF2 Nonsynonymous SNV A862T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 242180 chr17 61916032 61916032 G C rs536024292 SMARCD2 Nonsynonymous SNV R4G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.931 242181 chr9 131397174 131397174 G A rs146077746 WDR34 Synonymous SNV G336G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.89 242182 chr2 119604132 119604132 C T EN1 Synonymous SNV A204A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 16.01 242183 chr5 16781911 16781911 C T rs746491243 MYO10 Synonymous SNV A210A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 242184 chr1 156811572 156811572 G A rs751031490 INSRR Nonsynonymous SNV R1138W 0.003 0 0 0 3 0 0 0 0 0 0 0 33 242185 chr1 158226717 158226717 G C rs140268166 CD1A Nonsynonymous SNV R238P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 19.07 242186 chr5 172517663 172517663 T C CREBRF Nonsynonymous SNV F161L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.043 242187 chr5 173359493 173359493 G C CPEB4 Synonymous SNV L34L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.038 242188 chr17 66538153 66538153 C T rs769508290 FAM20A Nonsynonymous SNV R361H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 242189 chr1 158670028 158670028 G A rs747638330 OR6K2 Synonymous SNV L139L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.885 242190 chr5 177613290 177613290 T G rs540252519 GMCL2 Nonsynonymous SNV Q337H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.645 242191 chr1 159169649 159169649 A G rs199545197 CADM3 Nonsynonymous SNV Y354C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 242192 chr17 7124983 7124983 C G ACADVL Nonsynonymous SNV L180V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 242193 chr17 71386547 71386547 G T rs371257799 SDK2 Synonymous SNV A1357A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.364 242194 chr5 179745799 179745799 T G GFPT2 Nonsynonymous SNV M318L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 242195 chr17 72368202 72368202 T C rs140870134 GPR142 Synonymous SNV S196S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 242196 chr1 165173246 165173246 G A rs767622092 LMX1A Synonymous SNV S340S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 242197 chr4 57180481 57180481 G A CRACD Synonymous SNV E271E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 242198 chr5 37196098 37196098 T C CPLANE1 Nonsynonymous SNV I1225V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 242199 chr4 6304142 6304142 G A rs200775335 WFS1 Nonsynonymous SNV A874T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 29.9 242200 chr4 677438 677438 C G rs764331180 SLC49A3 Nonsynonymous SNV G200A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.446 242201 chr5 54424290 54424290 C T rs367682262 CDC20B Nonsynonymous SNV G285R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 242202 chr9 16436189 16436189 T C rs141312504 BNC2 Nonsynonymous SNV N626S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 242203 chr17 76171164 76171164 G T rs147289705 TK1 Synonymous SNV A160A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 242204 chr5 6337320 6337320 C A rs72716059 LINC02145 0 0 0.007 0 0 0 0 2 0 0 0 0 7.343 242205 chr4 7533341 7533341 G A rs372434484 SORCS2 Synonymous SNV P211P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 242206 chr5 66459834 66459834 G A rs754879098 MAST4 Synonymous SNV K1348K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 242207 chr5 66480123 66480123 T C CD180 Nonsynonymous SNV N183S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 242208 chr1 186024631 186024631 A G rs756832292 HMCN1 Synonymous SNV T2323T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 242209 chr17 7736178 7736178 G A rs751795451 DNAH2 Nonsynonymous SNV V4304M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 242210 chr17 7750643 7750643 C T rs575929747 KDM6B Nonsynonymous SNV A377V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 242211 chr17 77752103 77752103 C A rs575428786 CBX2 Synonymous SNV R23R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 242212 chr9 35563318 35563318 A G rs770536033 FAM166B Nonsynonymous SNV L44P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 242213 chr9 35906565 35906565 - CCACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCCCCA HRCT1 H105_P106insHHHHPHHTPHHLHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 242214 chr1 201180093 201180093 A G rs11803068 IGFN1 Synonymous SNV E2024E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 242215 chr1 201180100 201180100 C G rs4915223 IGFN1 Nonsynonymous SNV R2027G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.534 242216 chr2 190571797 190571797 A G rs147390101 ANKAR Nonsynonymous SNV T682A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 4.763 242217 chr11 17655322 17655322 C T rs1029912817 OTOG Nonsynonymous SNV P2402S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.71 242218 chr17 79892280 79892280 T C rs776083661 PYCR1 Nonsynonymous SNV H209R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 242219 chr1 117659275 117659275 C T rs201840024 TRIM45 Nonsynonymous SNV V421I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.045 242220 chr1 145531015 145531015 A G rs149782072 ITGA10 Nonsynonymous SNV I106M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 242221 chr2 198511302 198511302 G A rs772986528 RFTN2 Synonymous SNV V76V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.89 242222 chr2 198570172 198570172 G A rs145171191 MARS2 Nonsynonymous SNV A15T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.7 242223 chr9 79933461 79933461 A G rs758036205 VPS13A Nonsynonymous SNV K1717R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 242224 chr9 79980387 79980387 T C rs774454191 VPS13A Synonymous SNV F2702F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.662 242225 chr2 201436860 201436860 T G SGO2 Synonymous SNV T597T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.208 242226 chr2 202025486 202025486 G A rs151223777 CFLAR Synonymous SNV V130V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.43 242227 chr17 8701624 8701624 T C MFSD6L Nonsynonymous SNV Y272C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 242228 chr1 151260360 151260360 C A rs142842127 ZNF687 Synonymous SNV T531T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.08 242229 chr2 203500041 203500043 AGC - rs757397128 FAM117B Q50del 0 0 0 1 0 0 0.003 0 0 0 0 0 242230 chr6 109315740 109315740 C G rs1048535718 SESN1 Nonsynonymous SNV E290Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 242231 chr2 204591699 204591699 T C rs775306622 CD28 Synonymous SNV I132I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.32 242232 chr18 13099529 13099529 A G rs768327883 CEP192 Synonymous SNV S2204S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.667 242233 chr1 152324138 152324138 C A rs575262399 FLG2 Nonsynonymous SNV V2042F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.014 242234 chr9 96392279 96392279 G A rs780698722 PHF2 Synonymous SNV A42A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 242235 chr6 110759998 110759998 G A rs138030296 SLC22A16 Synonymous SNV V412V 0 0 0.007 0 0 0 0 2 0 0 0 0 6.48 242236 chr7 128492926 128492926 G A rs1019545678 FLNC Nonsynonymous SNV V1984M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 242237 chr7 129756367 129756367 A C rs761205643 KLHDC10 Synonymous SNV P112P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.684 242238 chr7 132192420 132192420 G A rs115629766 PLXNA4 Nonsynonymous SNV R345W 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 28.6 242239 chr1 155224554 155224554 G - rs775727686 FAM189B L39Wfs*98 0.002 0.003 0 0 2 1 0 0 0 0 0 0 242240 chr1 155224555 155224555 C A rs764066013 FAM189B Synonymous SNV G38G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.45 242241 chr6 122733538 122733538 C T rs200401812 HSF2 Synonymous SNV V38V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 242242 chr5 131409569 131409569 C T rs761384799 CSF2 Nonsynonymous SNV A18V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 242243 chr2 220136174 220136174 G A rs61749295 TUBA4B Nonsynonymous SNV R160H 0.001 0.01 0 0 1 4 0 0 0 0 0 0 11.29 242244 chr18 3084014 3084014 G C rs876657917 MYOM1 Nonsynonymous SNV L1355V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.55 242245 chr2 217347563 217347563 A C SMARCAL1 Nonsynonymous SNV S910R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 242246 chr5 133477985 133477985 G A rs143237515 TCF7 Nonsynonymous SNV D109N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 242247 chr2 219511010 219511010 G C ZNF142 Synonymous SNV S445S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.083 242248 chr2 220082505 220082505 G A rs149202834 ABCB6 Nonsynonymous SNV R192W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Affects 34 242249 chr6 138754803 138754803 G C NHSL1 Nonsynonymous SNV Q231E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.38 242250 chr1 228404368 228404368 G A rs144514297 OBSCN Nonsynonymous SNV R781H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.666 242251 chr2 220396560 220396560 C T rs1003328239 ASIC4 Synonymous SNV G348G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.52 242252 chr6 146755630 146755632 GAC - rs750936487 GRM1 D1099del 0 0 0.003 0 0 0 0 1 0 0 0 0 242253 chr18 55024457 55024457 A G rs201567031 ST8SIA3 Nonsynonymous SNV N206D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 242254 chr2 224828570 224828570 A G rs151141775 MRPL44 Nonsynonymous SNV N249S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.69 242255 chr7 151053275 151053275 C A NUB1 Synonymous SNV G244G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.8 242256 chr1 236347189 236347189 A C rs147232381 GPR137B Nonsynonymous SNV N317H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 242257 chr18 60985773 60985773 C T rs1800477 BCL2 Nonsynonymous SNV A43T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.72 242258 chr2 232320838 232320838 T C NCL Nonsynonymous SNV K572R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 242259 chr2 233498458 233498458 G A EFHD1 Nonsynonymous SNV R15Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 242260 chr2 234704850 234704850 C A MROH2A Synonymous SNV R381R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.88 242261 chr18 6999629 6999629 G A rs777290788 LAMA1 Nonsynonymous SNV S1493L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.526 242262 chr18 77659746 77659746 C T rs370780046 KCNG2 Nonsynonymous SNV S444L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 242263 chr6 169648723 169648723 G C rs36088849 THBS2 Nonsynonymous SNV T133S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.002 242264 chrX 82764198 82764198 T C rs191066633 POU3F4 Nonsynonymous SNV V289A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 242265 chr2 242155622 242155622 T G rs756769650 ANO7 Nonsynonymous SNV C647W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.18 242266 chr19 10131440 10131440 C T rs146669959 RDH8 Synonymous SNV F166F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 242267 chr6 25771174 25771174 A G rs766046244 SLC17A4 Nonsynonymous SNV I214V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.185 242268 chr19 10221808 10221808 G A rs189917838 PPAN Synonymous SNV R410R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.049 242269 chr1 186092265 186092265 G C rs781554552 HMCN1 Nonsynonymous SNV V4138L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.95 242270 chr1 200870139 200870139 G A INAVA Synonymous SNV L124L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.6 242271 chr2 3598010 3598010 T C RNASEH1 Synonymous SNV R128R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 242272 chr19 11304452 11304452 A G rs140879864 KANK2 Nonsynonymous SNV Y102H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 23.6 242273 chr19 11347526 11347526 G A rs372208548 DOCK6 Synonymous SNV D701D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.953 242274 chr12 103352172 103352183 GCAGCAGCAGCA - rs886038540 ASCL1 Q59_Q62del 0.001 0 0 0 1 0 0 0 0 0 0 0 242275 chr2 11924022 11924022 A G LPIN1 Synonymous SNV E408E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.702 242276 chr19 12996241 12996241 C A rs199685739 KLF1 Nonsynonymous SNV R268L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 242277 chr19 13246609 13246609 C T rs758066919 NACC1 Synonymous SNV G196G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.796 242278 chr10 11504927 11504927 G C USP6NL Nonsynonymous SNV S684C 0.003 0 0 0 4 0 0 0 0 0 0 0 24.6 242279 chr19 14000529 14000529 G A rs761440547 C19orf57 Synonymous SNV H262H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.406 242280 chr19 14196135 14196135 G A C19orf67 Nonsynonymous SNV A102V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 242281 chr1 203198743 203198743 C T rs748820225 CHIT1 Nonsynonymous SNV A8T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 4.802 242282 chr5 179135309 179135309 G A rs763918161 CANX Nonsynonymous SNV R17Q 0 0.005 0 1 0 2 0.003 0 0 1 0 0 24.2 242283 chr7 51095425 51095425 T C COBL Nonsynonymous SNV K1123R 0 0.005 0 0 0 2 0 0 0 0 0 0 10.91 242284 chr2 38298043 38298043 G C rs369311647 CYP1B1 Nonsynonymous SNV S485C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 242285 chr5 191963 191963 C T LRRC14B Nonsynonymous SNV R104C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 242286 chr5 21765178 21765178 A G rs12108814 CDH12 Nonsynonymous SNV I251T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 23.8 242287 chr5 21842304 21842304 G A rs76592602 CDH12 Synonymous SNV T36T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 11.03 242288 chr2 43804171 43804171 A C rs771805446 THADA Nonsynonymous SNV L343V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 242289 chr6 36927113 36927113 C A rs144353254 PI16 Nonsynonymous SNV P122T 0 0 0.007 0 0 0 0 2 0 0 0 0 16.49 242290 chr2 48027540 48027540 C T rs770992427 MSH6 Synonymous SNV S676S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.27 242291 chr5 36962301 36962301 G A rs142923613 NIPBL Nonsynonymous SNV A179T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 18.54 242292 chr2 33172810 33172810 G A rs774381137 LTBP1 Nonsynonymous SNV R140H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 242293 chr19 17396582 17396582 C T rs370950297 ANKLE1 Synonymous SNV V506V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 242294 chr6 42179526 42179526 T C rs144077141 MRPS10 Nonsynonymous SNV I106V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.711 242295 chr19 1754193 1754193 C G rs551369904 ONECUT3 Nonsynonymous SNV L178V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.535 242296 chr2 64779756 64779756 C T AFTPH Nonsynonymous SNV P383L 0 0 0 1 0 0 0.003 0 0 0 0 0 21 242297 chr2 42483711 42483711 A G rs149776472 EML4 Synonymous SNV P93P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.222 242298 chr6 43418855 43418855 C T rs751519195 DLK2 Nonsynonymous SNV G155S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 242299 chr2 44115792 44115792 T C rs149693840 LRPPRC Nonsynonymous SNV S1378G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 242300 chr2 48573695 48573695 A G rs894511663 FOXN2 Synonymous SNV P114P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.529 242301 chr19 19337554 19337554 G T rs746337800 NCAN Synonymous SNV G444G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.609 242302 chr5 64960075 64960075 T C rs199661889 TRAPPC13 Nonsynonymous SNV M175T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 242303 chr2 73493768 73493768 C T rs781382924 FBXO41 Synonymous SNV A316A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.46 242304 chr6 51512840 51512840 G A rs757605574 PKHD1 Nonsynonymous SNV S3796L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 242305 chr6 52880896 52880896 T A rs868057037 ICK Synonymous SNV R272R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.55 242306 chr7 97933515 97933515 G A rs144083350 BAIAP2L1 Nonsynonymous SNV A472V 0.001 0.008 0 0 1 3 0 0 0 0 0 0 10.31 242307 chr19 21366721 21366721 C G rs766089089 ZNF431 Nonsynonymous SNV P540A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 242308 chr2 75891858 75891858 A C rs138507763 GCFC2 Nonsynonymous SNV N591K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 21.4 242309 chr8 100733202 100733202 G A rs61754113 VPS13B Nonsynonymous SNV R2351Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 26.4 242310 chr19 2236192 2236192 G A rs572154067 PLEKHJ1 Nonsynonymous SNV A19V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 242311 chr2 69409751 69409751 C T rs144438225 ANTXR1 Nonsynonymous SNV R438C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 242312 chr2 71780276 71780276 C T DYSF Nonsynonymous SNV P616S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 242313 chr19 33263727 33263727 C T TDRD12 Nonsynonymous SNV H312Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 242314 chr2 98810930 98810930 C G VWA3B Nonsynonymous SNV A228G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 242315 chr6 84862515 84862515 G A rs745559104 CEP162 Synonymous SNV G1050G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.74 242316 chr6 84862516 84862516 C G rs771584753 CEP162 Nonsynonymous SNV G1050A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.891 242317 chr8 121290815 121290815 A G rs202010522 COL14A1 Nonsynonymous SNV D1160G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 18.26 242318 chr6 89974270 89974270 G A rs756791995 GABRR2 Nonsynonymous SNV P316L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 242319 chr8 124340787 124340787 T C rs201123136 ATAD2 Nonsynonymous SNV N1171D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 242320 chr6 90397930 90397930 C T rs774635667 LOC101929057 0 0 0.003 0 0 0 0 1 0 0 0 0 3.224 242321 chr2 96959245 96959245 A C SNRNP200 Nonsynonymous SNV D615E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 242322 chr2 97482306 97482306 C T CNNM3 Nonsynonymous SNV R98C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 242323 chr6 99849010 99849012 TCG - rs563673748 PNISR R590del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 242324 chr6 10529383 10529383 G A rs77950633 GCNT2 Nonsynonymous SNV R80Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.104 242325 chr6 108616323 108616323 T G rs34455016 AFG1L Nonsynonymous SNV L14V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.012 242326 chr6 112382217 112382217 T C rs1230346 CCN6 Synonymous SNV T42T 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Likely benign 0.079 242327 chr19 3819135 3819135 G A rs189769729 ZFR2 Synonymous SNV A613A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 242328 chr6 112440464 112440464 G A rs35679345 LAMA4 Synonymous SNV L1572L 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 Benign 11.3 242329 chr6 116691011 116691011 G A rs766671428 LOC100287467 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.133 242330 chr3 122160912 122160912 A T rs749702718 KPNA1 Synonymous SNV I323I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.165 242331 chr6 117114264 117114264 C T rs370629591 GPRC6A Nonsynonymous SNV V537I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.486 242332 chr19 38837153 38837153 G A rs758453597 CATSPERG Nonsynonymous SNV D245N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 242333 chr19 38955362 38955362 C T rs201827275 RYR1 Nonsynonymous SNV T957M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.3 242334 chr19 39016009 39016009 G A rs529215921 RYR1 Nonsynonymous SNV R3493H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 242335 chr19 39025828 39025828 A T RYR1 Nonsynonymous SNV I3798F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 242336 chr3 129279254 129279254 C T rs200333536 PLXND1 Synonymous SNV A1684A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.31 242337 chr7 105401847 105401847 C G ATXN7L1 Nonsynonymous SNV A140P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 242338 chr3 130098791 130098791 G A rs775778509 COL6A5 Nonsynonymous SNV A400T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.01 242339 chr2 152474872 152474872 G A rs766254214 NEB Nonsynonymous SNV R3422C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 242340 chr2 153520255 153520255 T C PRPF40A Nonsynonymous SNV T696A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 242341 chr11 77920656 77920656 C T rs373989662 USP35 Synonymous SNV N585N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.16 242342 chr19 42795865 42795865 C T rs772334813 CIC Nonsynonymous SNV P952S 0.001 0 0 0 1 0 0 0 0 0 0 0 26 242343 chr6 149826728 149826728 C T rs146098079 PPIL4 Nonsynonymous SNV R447Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 242344 chr7 127222605 127222605 G C rs774860737 GCC1 Synonymous SNV T597T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 242345 chr19 4409184 4409184 C T rs141725942 CHAF1A Nonsynonymous SNV L130F 0.003 0 0 0 4 0 0 0 0 0 0 0 13.12 242346 chr3 148597629 148597629 G A rs192487183 CPA3 Nonsynonymous SNV A177T 0 0 0 1 0 0 0.003 0 0 0 0 0 34 242347 chr3 150128839 150128839 G T rs151080920 TSC22D2 Nonsynonymous SNV A568S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 242348 chr6 159178390 159178390 C T rs139194153 SYTL3 Nonsynonymous SNV R223C 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.063 242349 chr2 176964834 176964834 C A rs139519037 HOXD12 Nonsynonymous SNV A102E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.78 242350 chr19 45730940 45730940 G A rs765138235 EXOC3L2 Synonymous SNV V128V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 242351 chr8 33230217 33230217 G A rs143828192 FUT10 Stop gain R440X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 38 242352 chr12 102043085 102043085 G A rs147400257 MYBPC1 Nonsynonymous SNV R364Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.42 242353 chr19 46842798 46842798 G T rs137925824 HIF3A Synonymous SNV L574L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.174 242354 chr19 47291166 47291166 G A rs536865689 SLC1A5 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.306 242355 chr19 47575223 47575223 G T rs148480867 ZC3H4 Nonsynonymous SNV P653Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 242356 chr19 47597685 47597685 C T rs528876933 ZC3H4 Synonymous SNV E114E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 242357 chr19 47918039 47918039 G A rs750236177 MEIS3 Nonsynonymous SNV R161W 0.001 0 0 0 1 0 0 0 0 0 0 0 29 242358 chr7 155090262 155090262 C T rs758401252 INSIG1 Synonymous SNV L89L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 242359 chr7 155503923 155503923 G A rs751252763 RBM33 Synonymous SNV P325P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 6.758 242360 chr6 26104445 26104445 C T rs137946858 H4C3 Synonymous SNV A90A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 242361 chr6 26108040 26108040 C T rs141494120 H1-6 Synonymous SNV K94K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.31 242362 chr8 68950396 68950396 G A rs777895978 PREX2 Synonymous SNV G236G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.88 242363 chr6 26234773 26234773 - TAG rs112515836 HIST1H1D P129_R130insT 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 242364 chr2 208631711 208631711 C T rs971407718 FZD5 Nonsynonymous SNV V585M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 242365 chr19 49610889 49610889 C T rs200330610 SNRNP70 Synonymous SNV G195G 0.001 0 0 0 1 0 0 0 0 0 0 0 14 242366 chr2 209153535 209153535 C T PIKFYVE Stop gain R205X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 242367 chr7 29980332 29980332 G A rs143901036 SCRN1 Synonymous SNV C167C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.996 242368 chr3 196229971 196229971 T C rs772738872 RNF168 Nonsynonymous SNV E25G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.6 242369 chr3 196229972 196229972 C T rs775903846 RNF168 Nonsynonymous SNV E25K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.1 242370 chr19 50810310 50810310 C T rs200485394 MYH14 Nonsynonymous SNV R1854C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 242371 chr7 30695255 30695255 C T CRHR2 Nonsynonymous SNV E331K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 242372 chr2 219136225 219136225 T C rs146100906 PNKD Synonymous SNV I63I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.265 242373 chr2 220022916 220022916 G A NHEJ1 Stop gain R57X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 242374 chr2 220043208 220043208 C T RETREG2 Nonsynonymous SNV T45M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 242375 chr7 36588262 36588262 G A rs140177976 AOAH Synonymous SNV P331P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.759 242376 chr2 109106441 109106442 TG - rs771577824 GCC2 S1402Qfs*22 0.001 0.003 0 0 1 1 0 0 0 0 0 0 242377 chr6 36689656 36689656 C T rs569928527 RAB44 Nonsynonymous SNV P582L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.251 242378 chr7 43664316 43664316 A T STK17A Nonsynonymous SNV T374S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 242379 chr3 37584011 37584011 G A rs372765459 ITGA9 Nonsynonymous SNV V542I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.944 242380 chr2 118701620 118701620 A G rs17047557 CCDC93 Nonsynonymous SNV Y465H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 242381 chr9 116185765 116185765 G T C9orf43 Nonsynonymous SNV D215Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.6 242382 chr3 39230715 39230715 G A rs138097055 XIRP1 Synonymous SNV A74A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.976 242383 chr6 41889472 41889472 A G rs746643048 BYSL Nonsynonymous SNV I58V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 242384 chr6 42073556 42073556 C T rs181548689 C6orf132 Synonymous SNV L698L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.77 242385 chr9 123476548 123476548 - CGGCGGCGGCGGCGG MEGF9 A31_V32insAAAAA 0 0.003 0 0 0 1 0 0 0 0 0 0 242386 chr7 51261223 51261223 A G rs754716784 COBL Synonymous SNV H103H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.462 242387 chr19 54299219 54299219 G T rs770386298 NLRP12 Nonsynonymous SNV Q941K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.23 242388 chr7 6056619 6056619 G A rs1860459 SNORA80D 0 0 0.007 0 0 0 0 2 0 0 0 0 6.164 242389 chr19 54577265 54577265 C T rs587722980 TARM1 Nonsynonymous SNV G189S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 0.104 242390 chr11 134130976 134130976 C T rs374459415 ACAD8 Synonymous SNV F248F 0.002 0 0 0 2 0 0 0 0 0 0 0 18.09 242391 chr2 238277612 238277612 C T rs374885393 COL6A3 Synonymous SNV P891P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.81 242392 chr11 134238603 134238603 G A rs138130138 GLB1L2 Nonsynonymous SNV G319R 0.002 0 0 0 2 0 0 0 0 0 0 0 34 242393 chr7 73183979 73183979 G A rs139191328 CLDN3 Nonsynonymous SNV P134L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 33 242394 chr7 73932488 73932488 C G rs112098981 GTF2IRD1 Synonymous SNV A179A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.272 242395 chr7 75168668 75168668 A G rs61737122 HIP1 Synonymous SNV A961A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.356 242396 chr4 48492896 48492896 G T rs139073114 ZAR1 Synonymous SNV G196G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.045 242397 chr4 48544099 48544099 T C rs7670111 FRYL Nonsynonymous SNV I1878V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 3.327 242398 chr4 53610151 53610151 G A rs4132835 ERVMER34-1 Nonsynonymous SNV R513C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 242399 chr3 50137309 50137309 A - RBM5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 242400 chr2 163228404 163228404 G A rs370636080 KCNH7 Synonymous SNV L1176L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.812 242401 chr4 62758586 62758586 A G rs775138320 ADGRL3 Nonsynonymous SNV S492G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19 242402 chr7 86823343 86823345 AGA - rs527420097 DMTF1 E566del 0 0 0.003 0 0 0 0 1 0 0 0 0 242403 chr2 242509697 242509697 C T rs781154517 BOK Synonymous SNV G169G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 242404 chr2 170366992 170366992 A G rs777511235 KLHL41 Nonsynonymous SNV H235R 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 9.638 242405 chr3 8671392 8671392 C A rs369013128 SSUH2 Synonymous SNV G182G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 242406 chr6 7727800 7727800 G A rs183103360 BMP6 Synonymous SNV Q204Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.391 242407 chr3 10331498 10331498 C T rs567867101 GHRL Nonsynonymous SNV R46H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 242408 chr7 99694931 99694931 C T rs61752703 MCM7 Synonymous SNV A222A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 242409 chr8 101083726 101083726 G A rs373383696 RGS22 Synonymous SNV S155S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 242410 chr2 179614004 179614004 C A rs72647902 TTN Nonsynonymous SNV A4375S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.49 242411 chr19 57705314 57705314 G A rs375323588 ZNF264 Synonymous SNV Q35Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.541 242412 chr6 89967533 89967533 G A rs370972483 GABRR2 Synonymous SNV N418N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.31 242413 chr19 58049002 58049002 A T rs61736502 ZNF549 Synonymous SNV A197A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.167 242414 chr19 58050110 58050110 A G rs757948973 ZNF549 Nonsynonymous SNV S567G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 242415 chr11 33083248 33083253 CCACCT - rs752913947 TCP11L1 H317_L318del 0.002 0 0 0 2 0 0 0 0 0 0 0 242416 chr19 58087237 58087237 T A ZNF416 Nonsynonymous SNV D46V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 242417 chr19 58118371 58118371 G A rs78803667 ZNF530 Nonsynonymous SNV C493Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 242418 chr6 99374443 99374443 T C FBXL4 Nonsynonymous SNV H141R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.601 242419 chr3 16242262 16242262 C A GALNT15 Nonsynonymous SNV F281L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 242420 chr3 16242278 16242278 G T GALNT15 Stop gain E287X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 242421 chr19 58189694 58189694 C T rs551517361 ZSCAN4 Synonymous SNV Y241Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 242422 chr8 11629059 11629059 G A rs139439505 NEIL2 Nonsynonymous SNV A35T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.966 242423 chr8 11705288 11705288 G A rs146220622 CTSB Synonymous SNV N68N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 13.63 242424 chr3 31789464 31789475 AGGCACTCCCCA - OSBPL10 G226_L229del 0.001 0 0 0 1 0 0 0 0 0 0 0 242425 chr3 36898210 36898210 C T rs752577997 TRANK1 Synonymous SNV E957E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.022 242426 chr3 37365556 37365556 G C GOLGA4 Nonsynonymous SNV E727Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 242427 chr19 6309743 6309743 C T rs761949285 ACER1 Synonymous SNV L151L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.309 242428 chr3 38404496 38404496 C T rs201491303 XYLB Synonymous SNV S93S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 242429 chr11 47869852 47869852 G C rs138245542 NUP160 Nonsynonymous SNV L41V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.173 242430 chr9 15214160 15214160 G A rs150108215 TTC39B Synonymous SNV D153D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.22 242431 chr4 109667685 109667685 C A ETNPPL Nonsynonymous SNV K333N 0 0 0 1 0 0 0.003 0 0 0 0 0 25 242432 chr19 7606904 7606904 C A rs546470199 PNPLA6 Synonymous SNV P401P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 242433 chr19 7830800 7830800 G A rs11465376 CLEC4M Nonsynonymous SNV R143Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 242434 chr19 7833833 7833833 T C rs201740080 CLEC4M Nonsynonymous SNV W251R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 242435 chr9 27566980 27566980 G A rs181815263 C9orf72 Nonsynonymous SNV P47S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 242436 chr2 209189639 209189639 T C rs754728736 PIKFYVE Nonsynonymous SNV V779A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 242437 chr8 144416940 144416940 G A rs766465072 TOP1MT Nonsynonymous SNV S31L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.402 242438 chr3 45637341 45637341 G C rs779477658 LIMD1 Nonsynonymous SNV G324R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 242439 chr19 877133 877133 C T MED16 Synonymous SNV V467V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.347 242440 chr19 8922236 8922236 G A rs115410276 ZNF558 Synonymous SNV H239H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.121 242441 chr3 47451702 47451702 C T PTPN23 Nonsynonymous SNV P679L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 242442 chr9 71538291 71538291 A G rs201747635 PIP5K1B Nonsynonymous SNV K397R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.79 242443 chr3 49166460 49166460 C T rs61729152 LAMB2 Nonsynonymous SNV R575Q 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 1.345 242444 chr9 75527009 75527009 A G rs759138771 ALDH1A1 Synonymous SNV L355L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.5 242445 chr3 52384594 52384594 A G rs61734644 DNAH1 Nonsynonymous SNV D906G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24.5 242446 chr3 53219959 53219959 C T rs546426559 PRKCD Synonymous SNV Y353Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.81 242447 chr19 9529224 9529224 G A rs200763039 ZNF266 Synonymous SNV Y64Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 242448 chr9 91930085 91930085 G C rs138496821 CKS2 Synonymous SNV R20R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.9 242449 chr9 93624608 93624608 G T SYK Nonsynonymous SNV K233N 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24 242450 chr19 9965295 9965295 T G rs763408064 OLFM2 Nonsynonymous SNV N233T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 242451 chr7 129944354 129944354 C G CPA4 Nonsynonymous SNV P108A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 242452 chr7 130038877 130038877 C A rs782387467 CEP41 Nonsynonymous SNV R238L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.9 242453 chr1 11115061 11115061 G A rs11540046 SRM Synonymous SNV D282D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 242454 chr7 140179092 140179092 G C rs199946433 MKRN1 Nonsynonymous SNV A18G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 242455 chr1 11134043 11134043 C T rs117771172 EXOSC10 Nonsynonymous SNV R702H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.777 242456 chr1 11158105 11158105 C T rs62623443 EXOSC10 Nonsynonymous SNV E74K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 242457 chr1 111726838 111726838 G A rs778057254 CEPT1 Nonsynonymous SNV R386H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 242458 chr8 31000145 31000145 G A rs11574345 WRN Synonymous SNV S1079S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.972 242459 chr1 11190730 11190730 G A rs17848553 MTOR Synonymous SNV A1823A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.759 242460 chr1 11249789 11249789 G C rs28990992 ANGPTL7 Nonsynonymous SNV E51D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 242461 chr1 11272468 11272468 C G rs17036536 MTOR Synonymous SNV R1154R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.06 242462 chr8 36776349 36776349 C G KCNU1 Nonsynonymous SNV P844A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 242463 chr1 113616086 113616086 G C rs760798444 LRIG2 Nonsynonymous SNV V20L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 242464 chr1 114354843 114354843 C A rs145084242 RSBN1 Synonymous SNV A64A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 242465 chr7 142626156 142626156 T C TRPV5 Nonsynonymous SNV I183V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.69 242466 chr4 187535479 187535479 A G rs34805028 FAT1 Nonsynonymous SNV I3032T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 not provided 23.3 242467 chr8 42841856 42841856 T G rs199832300 HOOK3 Nonsynonymous SNV S484A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 242468 chr4 22389732 22389732 T C ADGRA3 Nonsynonymous SNV R1188G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.82 242469 chr7 144096925 144096925 C T rs199538689 NOBOX Nonsynonymous SNV R360Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 34 242470 chr1 117568359 117568359 G A rs780745846 CD101 Nonsynonymous SNV R886H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 242471 chr8 53062405 53062405 T C rs150534855 ST18 Nonsynonymous SNV T647A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.166 242472 chr8 55539409 55539409 G A RP1 Synonymous SNV E989E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.304 242473 chr3 113376119 113376119 - TGCTGCTGC USF3 Q1478_A1479insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 242474 chr1 11826033 11826033 C G rs577967430 C1orf167 Nonsynonymous SNV L64V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 242475 chr8 56699080 56699080 G A TGS1 Nonsynonymous SNV G115E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.84 242476 chr8 61139459 61139459 A G CA8 Synonymous SNV T151T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 242477 chr1 12321082 12321082 G A rs149663017 VPS13D Synonymous SNV L430L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 242478 chr7 150915734 150915734 T C ABCF2, LOC114483834 Synonymous SNV T380T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.506 242479 chr7 1515637 1515637 C T rs372736624 INTS1 Nonsynonymous SNV V1817M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.65 242480 chr8 74207615 74207615 G C RDH10 Nonsynonymous SNV E31Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 242481 chr11 58274702 58274702 C T rs142077191 OR5B21 Nonsynonymous SNV E293K 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 242482 chr11 58978434 58978434 C A rs180770562 MPEG1 Synonymous SNV P635P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.553 242483 chr7 156755781 156755781 G A rs61740219 NOM1 Nonsynonymous SNV R609H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 242484 chr7 16348244 16348244 G T rs770257307 CRPPA Nonsynonymous SNV D181E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 16.03 242485 chr8 9590811 9590811 G T TNKS Nonsynonymous SNV A724S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 242486 chr3 127323609 127323609 G A rs201216288 MCM2 Nonsynonymous SNV R132H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 242487 chr1 152692295 152692295 G A rs762165554 C1orf68 Nonsynonymous SNV V100I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 242488 chr4 55133806 55133806 G A rs77524207 PDGFRA Nonsynonymous SNV R340Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.23 242489 chr13 96743677 96743677 C T rs146403850 HS6ST3 Synonymous SNV H187H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.57 242490 chr13 98865519 98865519 C T rs9300466 FARP1 Nonsynonymous SNV P8L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.5 242491 chr1 154461655 154461655 C A rs776441697 SHE Nonsynonymous SNV G299V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 242492 chr9 109687621 109687621 G A rs201191200 ZNF462 Synonymous SNV P476P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.068 242493 chr1 155004050 155004050 G A rs138461125 DCST2 Synonymous SNV L247L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 242494 chr1 155160749 155160749 C T rs770126594 MUC1 Nonsynonymous SNV V67I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 242495 chr4 70361504 70361504 C T UGT2B4 Nonsynonymous SNV V26M 0 0 0 3 0 0 0.008 0 0 0 0 0 24.1 242496 chr3 145924403 145924403 A G rs141496111 PLSCR4 Synonymous SNV Y73Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 242497 chr3 150176214 150176214 T C rs374237645 TSC22D2 Synonymous SNV L688L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 242498 chr1 157557076 157557076 G T rs767614914 FCRL4 Synonymous SNV I279I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.489 242499 chr1 157557090 157557090 G T rs763126889 FCRL4 Nonsynonymous SNV P275T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 242500 chr5 115238690 115238690 - CTGGCT rs779073678 AP3S1 0 0.003 0 0 0 1 0 0 0 0 0 0 242501 chr4 77996627 77996627 - CTCCTCCTCTTCCTCCTC CCNI E23_K24insEEEEEE 0 0 0 1 0 0 0.003 0 0 0 0 0 242502 chr1 160133955 160133955 G A rs76528638 ATP1A4 Nonsynonymous SNV R263Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 242503 chr5 131927059 131927059 A G rs535683239 RAD50 Synonymous SNV T532T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.055 242504 chr5 132209716 132209716 G C rs139417726 LEAP2 Synonymous SNV G44G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.919 242505 chr9 130939933 130939933 G A rs780188256 CIZ1 Nonsynonymous SNV S476F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.717 242506 chr7 5460845 5460845 G A rs778837430 TNRC18 Synonymous SNV S11S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15 242507 chr3 184099757 184099757 C T CHRD Synonymous SNV S216S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 242508 chr11 68566746 68566746 G A rs775908039 CPT1A Synonymous SNV V211V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.743 242509 chr3 184910477 184910477 C T rs151323332 EHHADH Nonsynonymous SNV R474Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 242510 chr3 185191447 185191447 G A rs114503110 MAP3K13 Synonymous SNV T569T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.35 242511 chr3 185766515 185766515 C T rs116523688 ETV5 Synonymous SNV P482P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.036 242512 chr3 186915414 186915414 G A rs144679380 RTP1 Nonsynonymous SNV M37I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 242513 chr1 170985351 170985351 T C MROH9 Synonymous SNV L594L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.566 242514 chr7 72992619 72992619 C T TBL2 0 0 0 1 0 0 0.003 0 0 0 0 0 9.008 242515 chr3 193384960 193384960 T C rs773500478 OPA1 Synonymous SNV V867V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 242516 chr3 194147859 194147859 C T rs199767870 ATP13A3 Nonsynonymous SNV G1024S 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 25.6 242517 chr7 73929751 73929751 G A rs138159923 GTF2IRD1 Synonymous SNV S114S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.059 242518 chr1 173010794 173010794 A T rs147104298 TNFSF18 Nonsynonymous SNV S105T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 242519 chr9 136037790 136037790 G A rs373488826 GBGT1 Nonsynonymous SNV R4W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 242520 chr9 136319651 136319651 G A rs200349242 ADAMTS13 Synonymous SNV A1053A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.215 242521 chr9 136910454 136910454 G C rs764917808 BRD3 Synonymous SNV P392P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.482 242522 chr1 17592198 17592198 A G PADI3 Nonsynonymous SNV R131G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 242523 chr7 77824376 77824376 A G rs567980199 MAGI2 Nonsynonymous SNV M695T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.89 242524 chr1 176740239 176740239 C T rs771160984 PAPPA2 Synonymous SNV H1546H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 242525 chr5 115142153 115142153 A T rs146759585 CDO1 Nonsynonymous SNV L155M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 242526 chr1 17928654 17928654 C A rs140059332 ARHGEF10L Nonsynonymous SNV A97E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 242527 chr4 853459 853459 C G rs147175932 GAK Nonsynonymous SNV S994T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.68 242528 chr5 118835195 118835195 A C HSD17B4 Nonsynonymous SNV M368L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 242529 chr9 139396828 139396828 G A rs779107901 NOTCH1 Synonymous SNV R1760R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.929 242530 chr1 180914583 180914583 C T rs750845986 KIAA1614 Synonymous SNV F1144F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 242531 chr14 55203851 55203851 C T SAMD4A Synonymous SNV D275D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.72 242532 chr4 1806182 1806182 C G rs762705505 FGFR3 Nonsynonymous SNV P401A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.502 242533 chr3 72957621 72957621 A T GXYLT2 Nonsynonymous SNV M127L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 242534 chr9 140250808 140250808 C T rs76472430 EXD3 Synonymous SNV E223E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.033 242535 chr3 79174619 79174619 C T rs139237706 ROBO1 Synonymous SNV S53S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 16.43 242536 chr9 140907686 140907686 G A rs200762767 CACNA1B Nonsynonymous SNV A756T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 242537 chr8 100866441 100866441 C T rs114818249 VPS13B Synonymous SNV H3633H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 14.54 242538 chr4 4322794 4322794 G A rs200510294 ZBTB49 Synonymous SNV Q683Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.106 242539 chr1 192992124 192992124 T C rs1027291966 UCHL5 Nonsynonymous SNV I259V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 242540 chr9 22451420 22451420 G A rs891099294 DMRTA1 Nonsynonymous SNV R342H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 242541 chr1 19557412 19557412 C T EMC1 Nonsynonymous SNV E642K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 242542 chr1 201177616 201177616 G A rs757869019 IGFN1 Nonsynonymous SNV A1199T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.2 242543 chr12 104152932 104152932 G A rs141041254 STAB2 Nonsynonymous SNV E2377K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 242544 chr1 202777266 202777266 G A rs150129345 KDM5B Synonymous SNV A56A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 242545 chr8 125463992 125463992 G C rs946622341 TRMT12 Nonsynonymous SNV R275T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.19 242546 chr5 145524042 145524042 G A rs146199705 LARS1 Synonymous SNV L504L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 242547 chr8 12879422 12879422 T C TRMT9B Nonsynonymous SNV Y286H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 242548 chr12 108686166 108686167 TG - CMKLR1 N191Kfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 242549 chr8 133142163 133142163 C T rs367587987 KCNQ3 Synonymous SNV T535T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.952 242550 chr8 133882026 133882026 G A rs142698837 TG Nonsynonymous SNV G77S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 242551 chr9 86894235 86894235 T C rs138805274 SLC28A3 Nonsynonymous SNV T632A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.653 242552 chrX 108636151 108636151 G A rs781268860 GUCY2F Nonsynonymous SNV T853M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 242553 chr5 167956838 167956838 T C rs756247730 FBLL1 Nonsynonymous SNV I110T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 242554 chr3 133524731 133524731 C T SRPRB Synonymous SNV G13G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.97 242555 chr8 145583645 145583645 C G SLC52A2 Nonsynonymous SNV Q165E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 242556 chr12 122208844 122208844 G A rs368861780 TMEM120B Nonsynonymous SNV V195I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.22 242557 chr1 2237568 2237568 A T rs774106502 SKI Nonsynonymous SNV K626M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 242558 chr5 176518037 176518037 A G rs55675160 FGFR4 Nonsynonymous SNV T179A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.029 242559 chr5 176520430 176520430 C T rs201812753 FGFR4 Nonsynonymous SNV P374L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.92 242560 chr8 1581185 1581185 A T rs139590326 DLGAP2 Nonsynonymous SNV I595F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.206 242561 chr5 176824901 176824901 C T rs758454383 SLC34A1 Nonsynonymous SNV R512C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 242562 chr8 1616658 1616658 C T rs199785303 DLGAP2 Synonymous SNV R658R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.66 242563 chr12 123741386 123741386 G A rs573747271 C12orf65 Synonymous SNV Q103Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.234 242564 chr4 83763292 83763292 C A rs78735860 SEC31A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 242565 chr12 124401152 124401152 G A rs375217171 DNAH10 Nonsynonymous SNV R3506Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 242566 chr4 87694002 87694002 C G rs377036483 PTPN13 Nonsynonymous SNV S1556C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 242567 chrX 27481349 27481349 A C rs942581322 PPP4R3C Nonsynonymous SNV L22R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.414 242568 chrX 38016206 38016206 A G rs774622598 SRPX Synonymous SNV I324I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.152 242569 chr1 228495983 228495983 G A rs56306215 OBSCN Nonsynonymous SNV R4213H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.37 242570 chrX 41555895 41555895 A G rs770431124 GPR34 Nonsynonymous SNV I337V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.131 242571 chr12 132593175 132593175 A G rs773922006 EP400P1 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24 242572 chr1 228547506 228547506 G T OBSCN Nonsynonymous SNV V6305L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.748 242573 chr4 100340236 100340236 C T rs370741519 ADH7 Nonsynonymous SNV V302M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 242574 chr1 228558952 228558952 T G rs113876855 OBSCN Nonsynonymous SNV F6825V 0.005 0 0 0 6 0 0 0 0 0 0 0 18.11 242575 chrX 53565839 53565839 G A rs781901197 HUWE1 Synonymous SNV S3945S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.26 242576 chrX 55514142 55514142 T C rs764404400 USP51 Nonsynonymous SNV M411V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.03 242577 chr5 39308430 39308430 A T C9 Nonsynonymous SNV L381H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 242578 chr1 231902965 231902965 G A rs149233802 DISC1 Nonsynonymous SNV V100M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 242579 chr8 2966174 2966174 C A rs373833616 CSMD1 Nonsynonymous SNV K2235N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 242580 chr1 232942028 232942028 A G rs61739198 MAP10 Nonsynonymous SNV N420S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 242581 chr1 232943513 232943513 A T rs61735509 MAP10 Nonsynonymous SNV H915L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 242582 chr5 41051120 41051120 C T MROH2B Nonsynonymous SNV V435I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.27 242583 chr8 33451072 33451072 G A rs376826832 DUSP26 Nonsynonymous SNV R139W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 242584 chr1 235922677 235922677 C T rs564946092 LYST Nonsynonymous SNV G2159D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 242585 chr6 43197153 43197153 C T rs369710271 DNPH1 Synonymous SNV E14E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 242586 chr4 146046148 146046148 A T rs761729172 ABCE1 Nonsynonymous SNV Q549H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 242587 chr10 1066743 1066743 C A rs148678096 IDI2 Nonsynonymous SNV R110S 0 0 0.007 0 0 0 0 2 0 0 0 0 23 242588 chr4 152638087 152638088 CT - rs565910322 GATB S194Wfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 242589 chr10 115609269 115609269 G A rs200449329 DCLRE1A Nonsynonymous SNV P532L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 242590 chr10 121336239 121336239 T C rs78990900 TIAL1 Synonymous SNV Q312Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.097 242591 chr9 107267262 107267262 C A OR13F1 Nonsynonymous SNV T240K 0 0 0 1 0 0 0.003 0 0 0 0 0 31 242592 chr5 89781408 89781408 A C POLR3G Synonymous SNV G8G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.397 242593 chr10 13213009 13213009 T C MCM10 Nonsynonymous SNV L32S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 242594 chr4 187510186 187510186 G A rs1053261493 FAT1 Nonsynonymous SNV P4443S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.79 242595 chr9 112900626 112900626 C T rs370870911 PALM2AKAP2 Synonymous SNV D792D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.69 242596 chr12 52822194 52822194 G A rs768161259 KRT75 Nonsynonymous SNV R410W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 242597 chr1 28167560 28167560 C T PPP1R8 Nonsynonymous SNV P103S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 242598 chr10 135085349 135085349 C T rs377448438 ADAM8 Nonsynonymous SNV R317H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 242599 chr10 1568896 1568896 C A rs561761269 ADARB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.892 242600 chr1 33992852 33992852 C T rs148437366 CSMD2 Nonsynonymous SNV R3249Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 242601 chr10 21463492 21463494 CCT - rs149620381 NEBL-AS1 0 0 0.024 0 0 0 0 7 0 0 0 0 242602 chr12 55523686 55523686 G A rs370254104 OR9K2 Nonsynonymous SNV R45H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.01 242603 chr1 36230284 36230284 C T rs143701108 CLSPN Synonymous SNV K55K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.49 242604 chr1 36563797 36563797 C T rs35495320 COL8A2 Synonymous SNV G430G 0.003 0 0.003 0 3 0 0 1 1 0 0 0 7.366 242605 chr1 36824371 36824371 C T rs147659167 STK40 Synonymous SNV R60R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.31 242606 chr15 91455349 91455349 C T rs138188731 MAN2A2 Nonsynonymous SNV T729M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 242607 chr1 37948752 37948752 T G rs769037913 ZC3H12A Nonsynonymous SNV M447R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 242608 chr1 38197183 38197183 C T rs371509086 EPHA10 Synonymous SNV P521P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 242609 chr12 56995526 56995526 G A rs752541395 BAZ2A Nonsynonymous SNV P1292L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.1 242610 chr1 40546153 40546153 C T rs374121503 PPT1 Synonymous SNV V78V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.597 242611 chr1 41223864 41223864 C T rs369100160 NFYC Synonymous SNV T115T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 242612 chr1 41483084 41483084 C T rs548959885 SLFNL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.074 242613 chr4 44684380 44684380 C T GUF1 Synonymous SNV F179F 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.14 242614 chr1 43316819 43316819 C T rs372439271 ZNF691 Nonsynonymous SNV R64W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 242615 chr9 132988750 132988750 A G NCS1 Nonsynonymous SNV Y168C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 242616 chr1 43688544 43688544 A T rs569774728 CFAP57 Nonsynonymous SNV K861M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 242617 chr1 43812255 43812255 A G rs190983971 MPL Nonsynonymous SNV T374A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.376 242618 chr1 43892438 43892438 C T rs147008168 SZT2 Synonymous SNV V1032V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.92 242619 chr1 43908158 43908158 T C rs187106999 SZT2 Synonymous SNV L2617L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.04 242620 chr1 43913762 43913762 C T rs138585463 SZT2 Synonymous SNV F3135F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.23 242621 chr1 43917083 43917083 C T rs117454252 HYI Nonsynonymous SNV R253Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 242622 chr16 1492889 1492889 G A CCDC154 Synonymous SNV A181A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.688 242623 chr5 54442472 54442472 T C rs150714957 CDC20B Synonymous SNV K113K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 242624 chr6 146720157 146720157 G A rs200495057 GRM1 Nonsynonymous SNV R661H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 242625 chr1 46812706 46812706 C T NSUN4 Nonsynonymous SNV P135L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 242626 chr9 135865074 135865074 C T rs1009272733 GFI1B Synonymous SNV A220A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 242627 chr1 47748093 47748093 T C rs545797279 STIL Nonsynonymous SNV H391R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.002 242628 chr5 66460279 66460279 C T rs202199042 MAST4 Nonsynonymous SNV L1497F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 242629 chr9 136310073 136310073 G T ADAMTS13 Nonsynonymous SNV G837V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 242630 chr10 5782076 5782076 C A rs371512643 TASOR2 Nonsynonymous SNV S567Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 242631 chr1 54610154 54610154 C T rs202105423 CDCP2 Nonsynonymous SNV A138T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 242632 chr1 55181650 55181650 C T rs144220243 TTC4 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 242633 chr1 55464986 55464986 G A rs34561376 BSND Nonsynonymous SNV V43I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.045 242634 chr6 157099016 157099016 C T ARID1B Synonymous SNV L68L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.773 242635 chr10 70411627 70411627 G A TET1 Nonsynonymous SNV G1434D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 242636 chr10 70507151 70507151 A G rs770194485 CCAR1 Synonymous SNV P203P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 242637 chr1 57395196 57395196 T C rs764821136 C8B Nonsynonymous SNV N553D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.793 242638 chr9 139902879 139902879 C T rs995611977 ABCA2 Nonsynonymous SNV E2422K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.7 242639 chr9 139944856 139944856 C G ENTPD2 Synonymous SNV G303G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.635 242640 chr9 140611578 140611578 G A rs768398355 EHMT1 Nonsynonymous SNV A165T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 0.035 242641 chr10 75553720 75553720 C A rs759912286 ZSWIM8 Nonsynonymous SNV P848Q 0 0 0.007 0 0 0 0 2 0 0 0 0 10.77 242642 chr1 6653515 6653515 C T rs557224878 KLHL21 Synonymous SNV S568S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 242643 chr13 100755177 100755177 G A rs570674073 PCCA Nonsynonymous SNV R49H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 242644 chr10 81113494 81113494 G T rs763787349 PPIF Nonsynonymous SNV V174F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 242645 chr10 81929003 81929003 - G rs759677084 ANXA11 Frameshift insertion S95Lfs*102 0 0 0.003 0 0 0 0 1 0 0 0 0 242646 chr5 93752919 93752919 T C rs374504963 KIAA0825 Synonymous SNV L883L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.263 242647 chr5 94872571 94872571 G A rs767456366 TTC37 Nonsynonymous SNV P234L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 242648 chr10 90366597 90366597 T C rs762374926 LIPJ Nonsynonymous SNV L345S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 242649 chr5 95297347 95297347 T C rs754440751 ELL2 Nonsynonymous SNV I27V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.96 242650 chr1 75097402 75097402 T C ERICH3 Nonsynonymous SNV T272A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 242651 chr1 75097406 75097415 AAGAGGTTCT - ERICH3 L267Ffs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 242652 chr6 17616405 17616405 C T NUP153 Nonsynonymous SNV G1409R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 242653 chr10 94821975 94821975 A G CYP26C1 Nonsynonymous SNV H138R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 242654 chr1 78511960 78511960 C T rs17101180 GIPC2 Nonsynonymous SNV S61F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 242655 chr1 8420238 8420238 G T rs762952257 RERE Nonsynonymous SNV P556Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 242656 chr1 84880418 84880418 G A rs146223730 DNASE2B Nonsynonymous SNV R110H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 242657 chr5 111611082 111611082 C - EPB41L4A L92Ffs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 242658 chr9 36344859 36344859 T C rs770655510 RNF38 Nonsynonymous SNV N402S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 242659 chr6 25862564 25862564 A C rs765112090 SLC17A3 Nonsynonymous SNV V67G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 242660 chr9 404995 404995 G C rs138810908 DOCK8 Nonsynonymous SNV E1004D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 23.4 242661 chr1 89654393 89654393 G T rs762130331 GBP4 Nonsynonymous SNV L428I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 242662 chr5 134364600 134364600 T C rs528345689 PITX1 Nonsynonymous SNV S272G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.65 242663 chr13 36367595 36367595 C T DCLK1 Nonsynonymous SNV E349K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 242664 chr9 79875096 79875096 C T rs771670332 VPS13A Nonsynonymous SNV P795S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 242665 chr5 139941295 139941295 G A rs185656846 APBB3 Synonymous SNV A215A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.036 242666 chr1 9649055 9649055 A T TMEM201 Nonsynonymous SNV T23S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 242667 chr13 42874186 42874186 G A AKAP11 Nonsynonymous SNV R435H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 242668 chr11 105782631 105782631 T C rs116000289 GRIA4 Synonymous SNV N433N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 242669 chr4 165878112 165878112 G C FAM218A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.419 242670 chr9 96398704 96398704 C T rs368630398 PHF2 Nonsynonymous SNV R66W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 242671 chr4 170043254 170043254 C T SH3RF1 Nonsynonymous SNV S448N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 242672 chr6 42897363 42897363 C T CNPY3, CNPY3-GNMT Synonymous SNV L19L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 242673 chr11 118367007 118367007 G T rs565762131 KMT2A Nonsynonymous SNV E1863D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.4 242674 chr11 118373571 118373571 T A rs9332837 KMT2A Nonsynonymous SNV S2322T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 19.04 242675 chr13 99378650 99378650 G A rs763694231 SLC15A1 Synonymous SNV C25C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.584 242676 chr11 118919544 118919544 C T rs782328296 HYOU1 Nonsynonymous SNV G683R 0 0 0.003 0 0 0 0 1 0 0 0 0 21 242677 chr5 149361113 149361113 T A rs104893924 SLC26A2 Nonsynonymous SNV C653S 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 24.8 242678 chr11 120096375 120096375 G A OAF Synonymous SNV V79V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 242679 chr20 2375889 2375889 G A rs139331856 TGM6 Synonymous SNV S77S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.428 242680 chr11 123814286 123814286 G A rs149662320 OR6T1 Nonsynonymous SNV T87M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.94 242681 chr14 104618594 104618594 G A rs370775087 KIF26A Synonymous SNV A177A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.206 242682 chr6 55924005 55924005 C T rs115079907 COL21A1 Nonsynonymous SNV G280R 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.3 242683 chr11 1252678 1252678 G A MUC5B Synonymous SNV S522S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.414 242684 chr5 168112909 168112909 G A rs146512576 SLIT3 Nonsynonymous SNV P1120L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 242685 chr6 7379143 7379143 C T rs779176539 CAGE1 Nonsynonymous SNV A132T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.714 242686 chrX 38546885 38546885 C T TSPAN7 Synonymous SNV S238S 0 0 0 2 0 0 0.005 0 0 0 0 1 17.71 242687 chr5 171765603 171765603 T G SH3PXD2B Synonymous SNV R836R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 242688 chr5 172185294 172185294 C T rs536036871 LOC101928093 0.001 0 0 0 1 0 0 0 0 0 0 0 8.412 242689 chrX 54776463 54776463 A T rs758280845 ITIH6 Nonsynonymous SNV D1269E 0 0 0 2 0 0 0.005 0 0 0 0 1 0.004 242690 chr5 176887456 176887456 G A rs201548561 DBN1 Nonsynonymous SNV P43L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 242691 chr5 176911090 176911090 G A rs371472586 PDLIM7 Synonymous SNV G384G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 242692 chr5 179290933 179290933 C T rs147706585 TBC1D9B Nonsynonymous SNV E1073K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.617 242693 chr20 44184443 44184443 G C WFDC8 Nonsynonymous SNV D114E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 242694 chr20 44314696 44314696 C T rs548751948 WFDC10B 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 242695 chr20 44582466 44582466 G A rs564168844 ZNF335 Nonsynonymous SNV A855V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.004 242696 chr20 44699068 44699068 C T rs376779498 NCOA5 Nonsynonymous SNV R49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 242697 chr20 45354421 45354421 A G rs531533787 SLC2A10 Nonsynonymous SNV N249S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 242698 chr11 22261169 22261169 C T rs772929002 ANO5 Nonsynonymous SNV L272F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.9 242699 chr20 47851481 47851481 C T rs757770676 DDX27 Nonsynonymous SNV T459M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 242700 chr20 51872655 51872655 T G rs144361614 TSHZ2 Synonymous SNV S883S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.384 242701 chr11 284563 284563 G A rs150898666 NLRP6 Nonsynonymous SNV G820S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 242702 chr20 55967345 55967345 T C rs555264688 LOC100291105 0.001 0 0 0 1 0 0 0 0 0 0 0 4.786 242703 chr11 2920923 2920923 T C SLC22A18AS Synonymous SNV E3E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 242704 chr11 31149015 31149015 C A DCDC1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 242705 chr20 56929290 56929290 G A rs377712985 RAB22A Synonymous SNV A152A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 242706 chr20 60773737 60773737 C G rs758190421 MTG2 Nonsynonymous SNV D172E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 242707 chr7 107315493 107315493 A G rs752485540 SLC26A4 Nonsynonymous SNV Q235R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 242708 chr11 3838605 3838605 C T rs141195165 PGAP2 Nonsynonymous SNV S63F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 242709 chr11 46724746 46724746 A G ZNF408 Nonsynonymous SNV Q194R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.702 242710 chr10 124337325 124337325 A G rs200051753 DMBT1 0 0 0 3 0 0 0.008 0 0 0 0 0 9.111 242711 chr10 124457422 124457422 G T rs61978644 C10orf120 Nonsynonymous SNV L279I 0 0 0 3 0 0 0.008 0 0 0 0 0 12.81 242712 chr10 124598725 124598725 C T rs145145827 CUZD1 Nonsynonymous SNV E86K 0 0 0 3 0 0 0.008 0 0 0 0 0 18.6 242713 chr10 124671176 124671176 C T rs143764952 FAM24A Nonsynonymous SNV T9M 0 0 0 3 0 0 0.008 0 0 0 0 0 25.2 242714 chr7 100844119 100844119 G A rs141091754 MOGAT3 Nonsynonymous SNV T6I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.823 242715 chr20 62038287 62038287 G A rs748400155 KCNQ2 Nonsynonymous SNV P749S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 242716 chr6 37280744 37280744 C A rs116200452 TBC1D22B Synonymous SNV R345R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 242717 chr20 644342 644342 C T SCRT2 Synonymous SNV P299P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 242718 chr17 67092835 67092835 C T rs577092050 ABCA6 Nonsynonymous SNV M1076I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.296 242719 chr21 27124500 27124500 C T rs201578633 GABPA Synonymous SNV L170L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.59 242720 chr6 52764784 52764784 A G GSTA3 Nonsynonymous SNV I71T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.932 242721 chr7 139106986 139106986 G A FMC1-LUC7L2, LUC7L2 Nonsynonymous SNV R360H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 242722 chr21 43531703 43531703 T C rs553631324 UMODL1 Nonsynonymous SNV S719P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.32 242723 chr21 43815444 43815444 G A rs137882698 TMPRSS3 Nonsynonymous SNV P28L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 242724 chr7 140373787 140373787 C A rs371985645 ADCK2 Synonymous SNV A219A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.22 242725 chr11 55927263 55927263 A C rs200083825 OR8K5 Nonsynonymous SNV F177L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 242726 chr21 47661001 47661001 A G rs545694980 MCM3AP-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.067 242727 chr6 108489348 108489348 C T rs908745747 NR2E1 Synonymous SNV L40L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.897 242728 chr22 19961238 19961238 C G ARVCF Nonsynonymous SNV D723H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 242729 chr11 5758623 5758623 C G rs137956225 OR56B1 Nonsynonymous SNV P293A 0 0 0.007 0 0 0 0 2 0 0 0 0 19.05 242730 chr5 172110975 172110975 G C rs145984019 NEURL1B Synonymous SNV V195V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.942 242731 chr22 26747096 26747096 C T rs760443816 SEZ6L Nonsynonymous SNV T829I 0.003 0 0 0 3 0 0 0 1 0 0 0 25.2 242732 chr11 608349 608349 G C rs771064175 PHRF1 Nonsynonymous SNV V965L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.674 242733 chr22 30769395 30769395 G A rs538385735 KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 3.032 242734 chr7 27194811 27194811 T C rs982907728 HOXA7 Nonsynonymous SNV Y137C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 242735 chr22 31008932 31008932 C T rs528481728 TCN2 Synonymous SNV L110L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.09 242736 chr22 31336755 31336755 T C rs562612569 MORC2 Synonymous SNV V298V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.797 242737 chr6 146755605 146755605 G A GRM1 Synonymous SNV G1086G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.46 242738 chr7 31691564 31691564 A G rs143151561 ITPRID1 Nonsynonymous SNV E908G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 242739 chr22 32828456 32828456 T C rs552712677 BPIFC Synonymous SNV L351L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 242740 chr22 35782824 35782824 C T rs201495169 HMOX1 Synonymous SNV Y97Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.02 242741 chr22 37098459 37098459 C G CACNG2 Nonsynonymous SNV E55Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 242742 chr22 37273751 37273751 C T rs567611718 NCF4 Synonymous SNV D302D 0.002 0 0 0 2 0 0 0 1 0 0 0 9.715 242743 chr11 63138704 63138704 C T rs981863759 SLC22A9 Nonsynonymous SNV S167L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 242744 chr11 63283050 63283050 G A rs769572149 LGALS12 Synonymous SNV L173L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.222 242745 chr22 38478794 38478794 G A rs775322586 SLC16A8 Synonymous SNV T29T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 242746 chr22 38483172 38483172 G T rs539447143 BAIAP2L2 Synonymous SNV S406S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.392 242747 chr11 64668016 64668016 C A rs762895413 ATG2A Nonsynonymous SNV G1464W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 242748 chr22 38483180 38483180 A G rs111783779 BAIAP2L2 Nonsynonymous SNV S404P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.285 242749 chr22 38483183 38483183 T A rs200520591 BAIAP2L2 Nonsynonymous SNV T403S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 242750 chr11 65271779 65271779 - T rs113635851 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 242751 chr6 160829841 160829841 T G SLC22A3 Nonsynonymous SNV F249V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 242752 chr22 43464475 43464475 G A rs145162777 TTLL1 Synonymous SNV I148I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 242753 chr6 165706912 165706912 C T rs79123849 C6orf118 Synonymous SNV K370K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 242754 chr6 165711513 165711513 C T rs61733403 C6orf118 Synonymous SNV L338L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.637 242755 chr22 44681464 44681464 C T rs574698559 SHISAL1 Nonsynonymous SNV R148Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 242756 chr22 45726577 45726577 G A rs372276519 FAM118A Nonsynonymous SNV G132R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 242757 chr11 66191329 66191329 G A rs751922807 NPAS4 Nonsynonymous SNV R113H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 242758 chr6 168709242 168709242 - GGCACCCCTGCT DACT2 A228_G229insSRGA 0.001 0 0 0 1 0 0 0 0 0 0 0 242759 chr7 64168841 64168841 A G rs201069644 ZNF107 Nonsynonymous SNV Y757C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 242760 chr11 67353934 67353934 G A rs567508164 GSTP1 Synonymous SNV A173A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.79 242761 chr11 6736435 6736435 G A rs533324985 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.758 242762 chr11 67371857 67371857 C T rs145334653 C11orf72 0 0 0.003 0 0 0 0 1 0 0 0 0 34 242763 chr22 50616721 50616721 C T rs767962601 PANX2 Nonsynonymous SNV A527V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 242764 chr11 68772754 68772754 C T rs559672912 MRGPRF Nonsynonymous SNV A342T 0 0 0.003 0 0 0 0 1 0 0 0 0 18 242765 chr11 68848939 68848939 G A rs148079137 TPCN2 Nonsynonymous SNV R554H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 242766 chr2 100006844 100006844 C T rs529370326 EIF5B Synonymous SNV L856L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 242767 chr7 77326168 77326168 C T RSBN1L Synonymous SNV L128L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 242768 chr11 70319250 70319250 C T rs200232277 SHANK2 Synonymous SNV A1170A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 242769 chr11 7064790 7064790 G T rs11041151 NLRP14 Nonsynonymous SNV L511F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.888 242770 chr7 16685180 16685180 C G rs374338307 ANKMY2 Nonsynonymous SNV G7R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 242771 chr2 111419353 111419353 T C rs200740694 BUB1 Synonymous SNV P321P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.074 242772 chr7 97933528 97933528 T C BAIAP2L1 Nonsynonymous SNV K468E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.411 242773 chr8 100844638 100844638 A G VPS13B Synonymous SNV P3149P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.239 242774 chr8 144895168 144895168 C T rs200654758 MIR937 0 0.003 0 0 0 1 0 0 0 0 0 0 7.268 242775 chr2 122485855 122485855 C T rs143446873 NIFK-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.498 242776 chr7 33148877 33148877 - CGC RP9 R36_H37insR 0.001 0 0 0 1 0 0 0 0 0 0 0 242777 chr8 118159253 118159253 G T rs143592691 SLC30A8 Nonsynonymous SNV E44D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.641 242778 chr17 79668155 79668207 CCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCAGGGCACCCTC - HGS Stop gain Y739* 0 0.003 0 0 0 1 0 0 0 0 0 0 242779 chr11 9117224 9117224 G A KRT8P41 0 0 0.003 0 0 0 0 1 0 0 0 0 1.185 242780 chr12 100552813 100552813 C T rs17030005 GOLGA2P5 0 0 0.02 0 0 0 0 6 0 0 0 0 5.717 242781 chr11 119148971 119148971 A G rs761630653 CBL Synonymous SNV G397G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.996 242782 chr2 165557069 165557069 T C rs141900576 COBLL1 Nonsynonymous SNV M475V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.34 242783 chr11 12241939 12241939 G A rs373393131 MICAL2 Synonymous SNV A380A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.99 242784 chr2 166904176 166904176 T G rs114137271 SCN1A Synonymous SNV R377R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.01 242785 chr7 64453247 64453247 C G ERV3-1 Nonsynonymous SNV C53S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 242786 chr16 1867186 1867186 G A rs148679753 HAGH Nonsynonymous SNV R210W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.2 242787 chr12 109185988 109185988 G - SSH1 S667Lfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 242788 chr2 172945105 172945105 A T rs200773279 METAP1D Nonsynonymous SNV I209F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 242789 chr16 2086366 2086366 C T SLC9A3R2 Synonymous SNV C41C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.739 242790 chr7 82580339 82580339 C T rs549114733 PCLO Nonsynonymous SNV E3189K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 242791 chr12 112338614 112338614 A - rs772207504 ADAM1A 0 0 0.01 0 0 0 0 3 0 0 0 0 242792 chr7 92028028 92028028 A G rs200594136 ANKIB1 Nonsynonymous SNV K1012R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.617 242793 chr8 144942058 144942058 C T rs782647892 EPPK1 Synonymous SNV R1788R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 242794 chr16 30750931 30750931 T C SRCAP Synonymous SNV R3190R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.015 242795 chr12 122618391 122618391 G A rs375116116 MLXIP Nonsynonymous SNV R530Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 242796 chr6 126288117 126288117 T C rs762735911 HINT3 Nonsynonymous SNV C96R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.5 242797 chr12 124192186 124192186 C T rs748210114 TCTN2 Synonymous SNV L673L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 242798 chr8 145247214 145247214 C T MROH1 Synonymous SNV S286S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.19 242799 chr8 145948709 145948709 T C rs182201470 ZNF251 Synonymous SNV E112E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.048 242800 chr11 17139185 17139185 A G rs140813992 PIK3C2A Synonymous SNV F643F 0 0 0 1 0 0 0.003 0 0 0 0 0 5.009 242801 chr2 201757065 201757065 G A rs751235894 NIF3L1 Synonymous SNV A133A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 242802 chr2 20205772 20205772 T G rs370381391 MATN3 Nonsynonymous SNV T175P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.46 242803 chr9 116132277 116132277 G A rs199976191 BSPRY Nonsynonymous SNV G360D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 242804 chr11 218845 218845 C T rs200203977 SIRT3 Nonsynonymous SNV R165Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.31 242805 chr7 100647901 100647901 C G MUC12 Nonsynonymous SNV S4686C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 242806 chr16 57764923 57764923 C T rs142387530 DRC7 Synonymous SNV Y759Y 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 3.199 242807 chr16 57789110 57789110 G A rs543243892 KATNB1 Nonsynonymous SNV R459Q 0.004 0 0 0 5 0 0 0 0 0 0 0 25.3 242808 chr7 100817868 100817868 T C rs199835653 NAT16 Nonsynonymous SNV Y74C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 242809 chr7 100850117 100850117 G A rs374560741 PLOD3 Synonymous SNV H668H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.376 242810 chr12 32135077 32135077 T C rs201773138 RESF1 Synonymous SNV D396D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.3 242811 chr12 32490718 32490718 C T rs774047311 BICD1 Synonymous SNV N846N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.506 242812 chr2 219029302 219029302 G T rs142076386 CXCR1 Nonsynonymous SNV F211L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 20.8 242813 chr11 294670 294670 C T rs75932067 PGGHG Nonsynonymous SNV P712L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.012 242814 chr2 219222421 219222421 T A rs145097529 CATIP Nonsynonymous SNV F106I 0.002 0 0 0 2 0 0 0 0 0 0 0 3.902 242815 chr12 48578411 48578411 G C rs759097956 CCDC184 Nonsynonymous SNV G169A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 242816 chr7 124404387 124404387 G A rs776021648 GPR37 Nonsynonymous SNV P215L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 242817 chr12 49425349 49425349 G A rs771853264 KMT2D Nonsynonymous SNV P4380L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.13 242818 chr12 49743161 49743161 A G DNAJC22 Nonsynonymous SNV Y169C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 242819 chr16 720484 720484 C G RHOT2 Stop gain S138X 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 35 242820 chr11 44074620 44074620 - A rs757943397 ACCSL 0 0 0 2 0 0 0.005 0 0 0 0 0 242821 chr2 226378358 226378358 A G NYAP2 Nonsynonymous SNV K165E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 242822 chr11 45265721 45265721 C T rs755428724 SYT13 Nonsynonymous SNV C388Y 0.001 0 0 5 1 0 0.013 0 0 0 0 0 5.22 242823 chr2 230135744 230135744 T C rs564647280 PID1 Nonsynonymous SNV T6A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 242824 chr2 233128020 233128020 C T rs377321022 DIS3L2 Nonsynonymous SNV A510V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.77 242825 chr12 54367325 54367325 G T rs762087299 HOXC11 Nonsynonymous SNV M100I 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 242826 chr9 138457350 138457350 A G rs200107494 PAEP Synonymous SNV K150K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 242827 chr2 238253473 238253473 G A COL6A3 Synonymous SNV C1789C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 242828 chr12 56101398 56101398 G A rs146932796 ITGA7 Synonymous SNV L23L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.35 242829 chr7 149486404 149486404 C T rs200595080 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.167 242830 chr7 23385603 23385603 A C IGF2BP3 Synonymous SNV L299L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.582 242831 chr12 58209760 58209760 C T rs762902632 AVIL Nonsynonymous SNV E22K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 242832 chr9 108226586 108226586 C G FSD1L Nonsynonymous SNV L29V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 242833 chr7 27880482 27880482 G A rs142184731 JAZF1 Synonymous SNV S130S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 3.359 242834 chr7 150730709 150730709 G A rs528488908 ABCB8 Nonsynonymous SNV R38H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.741 242835 chr12 66638939 66638939 A G IRAK3 Nonsynonymous SNV D343G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 242836 chr12 69113390 69113390 T C rs142470451 NUP107 Nonsynonymous SNV Y374H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.75 242837 chr2 25972737 25972737 G A rs912424018 ASXL2 Nonsynonymous SNV P303L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 242838 chr2 26806678 26806678 G A rs374597478 CIB4 Synonymous SNV L139L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.58 242839 chr9 116823849 116823849 C T rs891561603 AMBP Synonymous SNV S236S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.99 242840 chr2 27670413 27670413 G A rs571220836 IFT172 Nonsynonymous SNV T1543M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.8 242841 chr12 7637700 7637700 G A CD163 Nonsynonymous SNV T924I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 242842 chr8 6302476 6302476 A G rs201026769 MCPH1 Synonymous SNV S363S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.784 242843 chr9 119625872 119625872 G A rs56153291 ASTN2 Nonsynonymous SNV S626L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 27.3 242844 chr9 125133478 125133478 C T rs201575416 PTGS1 Synonymous SNV L7L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.059 242845 chr11 56113721 56113721 T C rs779914918 OR8K1 Synonymous SNV L69L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.135 242846 chr12 89865413 89865413 G C rs368667227 POC1B Nonsynonymous SNV N176K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 242847 chr2 3425729 3425729 C T rs1132171 TRAPPC12 Synonymous SNV S414S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.55 242848 chr12 9089920 9089920 C T rs372044180 PHC1 Nonsynonymous SNV R876W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.7 242849 chr12 93100784 93100784 C T C12orf74 Nonsynonymous SNV T126I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.789 242850 chr10 22171227 22171227 C T rs191455803 DNAJC1 Nonsynonymous SNV R321Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25 242851 chr2 42720603 42720603 C G rs556346669 KCNG3 Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.326 242852 chr2 43906038 43906038 C T rs768444412 PLEKHH2 Nonsynonymous SNV R54C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 242853 chr12 98850807 98850818 CAGCAGCAGCGG - rs566158981 SLC9A7P1 0 0 0.007 0 0 0 0 2 0 0 0 0 242854 chr13 101726897 101726897 A G rs749740539 NALCN Synonymous SNV F1328F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.672 242855 chr2 44539876 44539876 A G SLC3A1 Nonsynonymous SNV N495S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 242856 chr9 13143471 13143471 G A rs376910378 MPDZ Synonymous SNV A1278A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.05 242857 chr13 110436463 110436463 G A rs150566914 IRS2 Synonymous SNV N646N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 242858 chr2 54155362 54155362 G A rs779442018 PSME4 Synonymous SNV R465R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 242859 chr17 19232159 19232159 C T rs143806164 EPN2 Nonsynonymous SNV A143V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.2 242860 chr9 132641860 132641860 G A rs753881618 USP20 Nonsynonymous SNV G841R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 242861 chr13 113201924 113201924 C A TUBGCP3 Nonsynonymous SNV R393L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.357 242862 chr9 134346255 134346258 CCCC - PRRC2B P665Rfs*10 0.001 0 0 1 1 0 0.003 0 0 0 0 0 242863 chr9 134346261 134346271 GATGTTGGGCT - PRRC2B Q666Hfs*53 0.001 0 0 1 1 0 0.003 0 0 0 0 0 242864 chr11 57137405 57137405 C T rs748221834 P2RX3 Nonsynonymous SNV P377S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.12 242865 chr2 68873073 68873073 C T rs762282213 PROKR1 Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.83 242866 chr13 23911577 23911577 A C SACS Nonsynonymous SNV I1999M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 242867 chr9 136215834 136215834 A C rs782113166 RPL7A Nonsynonymous SNV K21Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.325 242868 chr13 25338346 25338346 C T RNF17 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 242869 chr9 136513082 136513082 G A rs77984399 DBH Nonsynonymous SNV R380Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 5.589 242870 chr7 94993342 94993342 C - rs760777457 PON3 Q176Hfs*20 0.001 0.003 0 0 1 1 0 0 0 0 0 0 242871 chr8 55538828 55538828 G A rs202031905 RP1 Nonsynonymous SNV G796S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.005 242872 chr8 61655366 61655366 C T rs753953205 CHD7 Nonsynonymous SNV R459C 0.003 0.003 0.007 2 3 1 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 242873 chr2 74702231 74702231 G C CCDC142 Nonsynonymous SNV A603G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 242874 chr11 60170535 60170535 G A rs761343775 MS4A14 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 242875 chr2 84949830 84949830 C T rs770893158 DNAH6 Nonsynonymous SNV R3292C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 242876 chr13 45589192 45589192 A G rs143717761 GPALPP1 Nonsynonymous SNV K172E 0 0 0.007 0 0 0 0 2 0 0 0 0 28.8 242877 chr13 46104893 46104893 T C rs371985919 COG3 Nonsynonymous SNV I812T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 242878 chr13 47315893 47315893 C T rs747826327 LRCH1 Synonymous SNV R699R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 242879 chr8 87076696 87076696 T C PSKH2 Nonsynonymous SNV H117R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 242880 chr13 50059779 50059779 C T rs756764008 SETDB2, SETDB2-PHF11 Nonsynonymous SNV S499L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 242881 chr2 88327755 88327755 A C rs534583673 KRCC1 Nonsynonymous SNV C110G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 242882 chr13 51943320 51943320 A G rs146070799 INTS6 Nonsynonymous SNV L744S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.936 242883 chr17 34910696 34910696 C T rs140552410 GGNBP2 Synonymous SNV L43L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.89 242884 chr2 95941792 95941792 G A rs534610509 PROM2 Nonsynonymous SNV G137R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 242885 chr2 96810790 96810790 G A rs202128160 DUSP2 Nonsynonymous SNV R102W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.8 242886 chr2 96951002 96951002 T A rs547112938 SNRNP200 Synonymous SNV A1360A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.87 242887 chr2 99180040 99180040 G A rs184582905 INPP4A Synonymous SNV A606A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 242888 chr9 15486058 15486058 A G rs139433616 PSIP1 Synonymous SNV T134T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.88 242889 chr14 100069577 100069577 T C rs577211458 CCDC85C Synonymous SNV A240A 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.035 242890 chr14 100589878 100589878 C A rs141817237 EVL Nonsynonymous SNV P119T 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 242891 chr8 110499005 110499005 C T rs189682035 PKHD1L1 Nonsynonymous SNV R3279C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 242892 chr3 108780892 108780892 C T rs565178155 MORC1 Synonymous SNV L303L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.759 242893 chr3 112989724 112989724 T C rs772157582 BOC Synonymous SNV C200C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.174 242894 chr14 104492452 104492452 A G TDRD9 Synonymous SNV Q1000Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.224 242895 chr3 116163732 116163732 G A rs757612681 LSAMP Synonymous SNV A49A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.14 242896 chr3 119188757 119188757 - TGTCATAGAAGAGGATCTAACTCCTTTCCGAGGAGGCATCTCCAGGAAGATGATGGCAGAGGTAGTCAGAC POGLUT1 Frameshift insertion R83Lfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 242897 chr3 119199021 119199021 - CAGCAGCACAGTGGCCATGGAAAAAGAAAAACTCTACAGCATATTTCCG POGLUT1 0.001 0 0 0 1 0 0 0 0 0 0 0 242898 chr3 119316828 119316828 G T rs1128293 PLA1A Nonsynonymous SNV S23I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 242899 chr11 65734016 65734016 C T rs763211856 SART1 Nonsynonymous SNV P393S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.07 242900 chr19 46274999 46275010 CCCGGCCCCGGC - rs372053831 DM1-AS 0 0.003 0 0 0 1 0 0 0 0 0 0 242901 chr19 46319246 46319246 G A rs148068166 SYMPK Nonsynonymous SNV P1184S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.497 242902 chr8 141840574 141840574 G A rs148611560 PTK2 Synonymous SNV V81V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.73 242903 chr7 129663526 129663526 C T rs756680606 ZC3HC1 Nonsynonymous SNV R310Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 242904 chr3 124117649 124117649 G A rs560939156 KALRN Synonymous SNV L757L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 242905 chr14 22887705 22887705 T G rs61974571 LOC105370401 0 0 0.024 0 0 0 0 7 0 0 0 0 4.057 242906 chr9 75369742 75369742 C A TMC1 Nonsynonymous SNV T228N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 242907 chr8 144893367 144893367 G A SCRIB Nonsynonymous SNV P352L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 242908 chr14 24034396 24034396 G - rs754678227 AP1G2 R180Vfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 242909 chr14 24034830 24034830 G C AP1G2 Nonsynonymous SNV S170R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 242910 chr14 24034831 24034831 C T AP1G2 Nonsynonymous SNV S170N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 242911 chr3 128634256 128634256 C T rs542814388 KIAA1257 Nonsynonymous SNV D732N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 242912 chr3 128654103 128654103 C T rs761454786 KIAA1257 Nonsynonymous SNV R482H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.577 242913 chr3 129280733 129280733 G A rs753265632 PLXND1 Synonymous SNV S1613S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 242914 chr11 747488 747488 A C rs754266881 TALDO1 Nonsynonymous SNV S3R 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.19 242915 chr11 76164419 76164419 A G EMSY Nonsynonymous SNV T78A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 242916 chr3 130435316 130435316 C A rs774080288 PIK3R4 Nonsynonymous SNV R752L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 242917 chr7 149500661 149500661 G T rs768913661 SSPO 0.003 0.005 0 0 3 2 0 0 0 0 0 0 4.948 242918 chr7 149558835 149558835 C A rs768472454 ZNF862 Synonymous SNV I862I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 15.96 242919 chr9 713322 713322 C T rs149371668 KANK1 Synonymous SNV F694F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.32 242920 chr14 50583219 50583219 G C rs751175717 VCPKMT Nonsynonymous SNV R18G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 242921 chr3 136574037 136574037 C G rs574752739 SLC35G2 Nonsynonymous SNV D245E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 242922 chr11 800213 800213 C T rs140671377 PIDD1 Nonsynonymous SNV R731Q 0.002 0 0 3 2 0 0.008 0 0 0 0 0 11.58 242923 chr7 150704070 150704070 T C rs762478543 NOS3 Synonymous SNV S638S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 4.339 242924 chr3 138186414 138186414 G A rs565978929 ESYT3 Nonsynonymous SNV C394Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 242925 chr3 140139977 140139977 G A rs541510853 CLSTN2 Synonymous SNV R216R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.281 242926 chr3 140277551 140277551 C T rs187880483 CLSTN2 Synonymous SNV I631I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 242927 chr9 8465634 8465634 A G rs570130168 PTPRD Synonymous SNV Y761Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.459 242928 chr9 8484298 8484298 C A rs7869444 PTPRD Nonsynonymous SNV E657D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 242929 chr14 57710894 57710894 T C rs759871538 EXOC5 Nonsynonymous SNV N152D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 242930 chr7 157449126 157449126 C T rs200948674 PTPRN2 Nonsynonymous SNV A669T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 242931 chr3 151474954 151474954 C T rs35709499 AADACL2 Nonsynonymous SNV L260F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.16 242932 chr14 68238845 68238845 C T rs369952104 ZFYVE26 Synonymous SNV A1801A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.64 242933 chrX 152915736 152915736 C T rs375976650 DUSP9 Synonymous SNV G377G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.782 242934 chr3 160965104 160965104 A G rs764650083 NMD3 Nonsynonymous SNV R397G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 242935 chr3 16250068 16250068 C G rs12634179 GALNT15 Nonsynonymous SNV P324A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.613 242936 chr3 16252712 16252712 G T GALNT15 Synonymous SNV S387S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.64 242937 chrX 153296853 153296853 G A rs61748397 MECP2 Synonymous SNV F154F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.833 242938 chrX 154563711 154563730 TGAGTGCCGGGCCGCAGGCC - CLIC2 G3Sfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 242939 chr14 74411251 74411251 C G rs192290829 FAM161B Nonsynonymous SNV E238Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 242940 chr3 169802120 169802120 T C rs371080313 GPR160 Synonymous SNV Y120Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 242941 chr8 11660266 11660266 A G rs1002447670 FDFT1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.855 242942 chr3 17520882 17520882 C A rs79519626 TBC1D5 Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.355 242943 chr3 180372580 180372580 A T rs201684898 CCDC39 Nonsynonymous SNV H300Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 242944 chr17 7227737 7227737 C T rs779639318 NEURL4 Nonsynonymous SNV G626R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 242945 chr3 182871853 182871853 C T rs115430414 LAMP3 Nonsynonymous SNV G126S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 242946 chr3 183960348 183960348 G A rs79144888 ALG3 Nonsynonymous SNV P376L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.67 242947 chr14 88892932 88892932 C T rs151338404 SPATA7 Synonymous SNV R211R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.17 242948 chr9 95610058 95610058 A G rs530651544 ZNF484 Synonymous SNV F301F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.035 242949 chr14 93673375 93673375 A - GON7 L3Rfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 242950 chr12 110771945 110771945 C T ATP2A2 Synonymous SNV N472N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.18 242951 chr14 96552995 96552995 G A rs761906862 C14orf132 Nonsynonymous SNV V59I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 242952 chr3 194081299 194081299 G A rs555692155 LRRC15 Synonymous SNV G158G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.027 242953 chr3 194337833 194337833 G C rs149267668 TMEM44 Nonsynonymous SNV L260V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 242954 chr15 101099298 101099298 C T rs146957865 PRKXP1 0 0 0.02 0 0 0 0 6 0 0 0 0 0.936 242955 chr3 195498542 195498542 C T rs376312999 MUC4 Nonsynonymous SNV R121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.219 242956 chr15 101432638 101432638 A G rs577964714 LOC101927751 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 242957 chr9 114090198 114090198 G A rs762999569 OR2K2 Synonymous SNV L172L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.249 242958 chr17 7606143 7606143 G A WRAP53 Nonsynonymous SNV R416H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 242959 chr3 196454974 196454974 A G rs771213420 PIGX Nonsynonymous SNV N167D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 242960 chr15 25231061 25231061 A - rs776241357 PWAR5 0 0 0.003 0 0 0 0 1 0 0 0 0 242961 chr15 25231062 25231062 A C rs976809371 PWAR5 0 0 0.003 0 0 0 0 1 0 0 0 0 0.666 242962 chr8 72756258 72756258 G T rs201988301 MSC Synonymous SNV P52P 0.002 0.005 0.003 4 2 2 0.01 1 0 0 0 0 15.48 242963 chr10 112837853 112837853 G T rs756491012 ADRA2A Synonymous SNV A33A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.44 242964 chr10 112838818 112838818 C T rs762870842 ADRA2A Nonsynonymous SNV T355M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.917 242965 chr3 33557544 33557544 A G rs779181045 CLASP2 Synonymous SNV L1149L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 242966 chr9 119380746 119380746 C T rs760878265 ASTN2 Nonsynonymous SNV R123Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 242967 chr19 58908045 58908045 G A RNF225 Nonsynonymous SNV V197I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.4 242968 chr8 75272532 75272532 T G rs886293648 GDAP1 Synonymous SNV T48T 0.002 0.005 0 3 2 2 0.008 0 0 0 0 0 Uncertain significance 5.578 242969 chr3 38180452 38180452 C T rs373382593 MYD88 Synonymous SNV G87G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.98 242970 chr9 123932039 123932039 C A rs72760254 CNTRL Nonsynonymous SNV A1522D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 21.4 242971 chr15 40656724 40656724 C T rs72733418 DISP2 Synonymous SNV P194P 0.003 0 0.007 0 3 0 0 2 0 0 0 0 Benign 14.47 242972 chr3 38406710 38406710 G T rs770232604 XYLB Nonsynonymous SNV W104C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 242973 chr12 132402007 132402007 G A rs34936984 ULK1 Nonsynonymous SNV G745D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 242974 chr17 79205850 79205850 C - rs758607425 LOC105371925 0.003 0 0 0 3 0 0 0 0 0 0 0 242975 chr9 127566560 127566560 A C rs879618683 OLFML2A Synonymous SNV P155P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 242976 chr3 44929195 44929195 A G rs200171778 TGM4 Nonsynonymous SNV I70V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 242977 chr3 45441864 45441864 A G rs200681375 LARS2 Nonsynonymous SNV Q121R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 242978 chr9 131469236 131469236 G A rs138499881 PKN3 Synonymous SNV E195E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.662 242979 chr9 132640641 132640641 G A rs747301277 USP20 Nonsynonymous SNV E812K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 242980 chr8 133008725 133008725 A G rs140029725 EFR3A Nonsynonymous SNV N677S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.114 242981 chr17 97003 97003 C A rs568520768 RPH3AL Nonsynonymous SNV R142L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.6 242982 chr18 10691255 10691255 G A rs754942478 PIEZO2 Synonymous SNV S2326S 0.005 0 0 0 6 0 0 0 0 0 0 0 10.73 242983 chr3 48351395 48351395 C T rs372152504 SPINK8 Nonsynonymous SNV C94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 242984 chr15 63637727 63637727 A G rs758007430 CA12 Synonymous SNV N66N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.5 242985 chr15 63972927 63972927 C G rs757959093 HERC1 Nonsynonymous SNV V2092L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 242986 chr8 141549512 141549512 G A rs150811622 AGO2 Synonymous SNV I692I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.86 242987 chr3 49210481 49210481 G A rs556212641 KLHDC8B Synonymous SNV P93P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 242988 chr15 66996277 66996277 C T SMAD6 Synonymous SNV G227G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 242989 chr9 136901257 136901257 G A rs369709520 BRD3 Synonymous SNV P611P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.207 242990 chr3 50369184 50369184 C T rs751478417 RASSF1 Nonsynonymous SNV R38Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 242991 chr3 51977545 51977545 C T rs536768535 PARP3 Synonymous SNV P65P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.863 242992 chr3 52256643 52256643 G A rs35133926 TLR9 Synonymous SNV G563G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.22 242993 chr3 52835028 52835028 G A ITIH3 Nonsynonymous SNV G417R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.435 242994 chr3 52931416 52931416 G A rs748220024 STIMATE, STIMATE-MUSTN1 Synonymous SNV P17P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 242995 chr3 53220658 53220658 G A rs200890839 PRKCD Synonymous SNV G452G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.56 242996 chr3 58135889 58135889 G A rs758173602 FLNB Nonsynonymous SNV R2077H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 242997 chr15 82335926 82335926 G T rs377464451 MEX3B Nonsynonymous SNV H429N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.454 242998 chr3 64507857 64507857 C T rs17070905 ADAMTS9 Nonsynonymous SNV R1905Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 242999 chr3 64527275 64527275 T C rs17070967 ADAMTS9 Nonsynonymous SNV K1712R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.306 243000 chr3 64580068 64580068 C T rs77982452 ADAMTS9 Nonsynonymous SNV V1380I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.34 243001 chr10 858980 858980 G A LARP4B Synonymous SNV S736S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.238 243002 chr10 5091025 5091025 T C rs555779924 AKR1C3 Synonymous SNV L8L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.131 243003 chr3 97595537 97595537 T G CRYBG3 Nonsynonymous SNV I1833M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.76 243004 chr3 9970110 9970110 G A rs768254244 IL17RC Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.668 243005 chr3 9979713 9979713 C G rs2302787 CRELD1 Nonsynonymous SNV P128R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.5 243006 chr3 9988425 9988425 T C rs80190226 PRRT3 Nonsynonymous SNV N811S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 243007 chr10 13838510 13838510 T A FRMD4A Nonsynonymous SNV L111F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 243008 chr15 99740221 99740221 C T rs149191017 TTC23 Nonsynonymous SNV G221D 0 0 0.007 0 0 0 0 2 0 0 0 0 20.5 243009 chr4 106816846 106816846 C T rs761623783 NPNT Nonsynonymous SNV L13F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 243010 chr12 56119359 56119359 A G CD63 Nonsynonymous SNV Y235H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 243011 chr10 5141541 5141541 C A rs370932816 AKR1C3 Nonsynonymous SNV A157E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.94 243012 chr16 1260904 1260904 G A rs766694151 CACNA1H Nonsynonymous SNV A1386T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 243013 chr9 35906583 35906583 - CCACCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPHHTPHHLHHHHHHHHHPH 0.002 0 0 0 2 0 0 0 1 0 0 0 243014 chr4 122749822 122749822 G A BBS7 Nonsynonymous SNV L580F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 243015 chr4 128627938 128627938 G A rs548278763 INTU Synonymous SNV T695T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.57 243016 chr4 128724955 128724955 G A rs200996353 HSPA4L Nonsynonymous SNV A238T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 243017 chr10 43696213 43696213 G A RASGEF1A Nonsynonymous SNV P203S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.266 243018 chr16 20976519 20976519 C T rs748512714 DNAH3 Nonsynonymous SNV R2850H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 29.5 243019 chr16 21060917 21060917 C T rs546341139 DNAH3 Synonymous SNV A1432A 0 0 0.007 0 0 0 0 2 0 0 0 0 18.3 243020 chr16 21156612 21156612 T G rs746030014 DNAH3 Nonsynonymous SNV N113T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 23.8 243021 chr16 2258234 2258234 G C rs776234505 MLST8 Synonymous SNV L133L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.655 243022 chr9 90313608 90313608 C T rs530923657 DAPK1 Synonymous SNV V883V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.39 243023 chr16 23481366 23481366 G A rs756592274 GGA2 Nonsynonymous SNV T524M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 243024 chr10 50678692 50678692 T G rs757873730 ERCC6 Nonsynonymous SNV D1105A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 243025 chr12 82748339 82748339 T G rs143136847 CCDC59 Nonsynonymous SNV T167P 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 25.8 243026 chr16 29828085 29828085 C T PAGR1 Nonsynonymous SNV A80V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.54 243027 chr19 14568857 14568857 G A rs749809942 PKN1 Nonsynonymous SNV V394M 0.004 0 0 0 5 0 0 0 0 0 0 0 31 243028 chr4 1742638 1742638 C T rs749461763 TACC3 Synonymous SNV N716N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 243029 chr10 71008261 71008261 C T rs189455888 HKDC1 Synonymous SNV S449S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 243030 chr19 14865929 14865929 G A rs373173364 ADGRE2 Nonsynonymous SNV P476L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.31 243031 chr4 175899075 175899075 C T rs140568401 ADAM29 Nonsynonymous SNV T800I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.375 243032 chr4 175899076 175899076 A G rs61744599 ADAM29 Synonymous SNV T800T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 243033 chr4 175899079 175899079 C T rs151310201 ADAM29 Synonymous SNV P801P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.914 243034 chr4 175899088 175899088 G T rs146933346 ADAM29 Nonsynonymous SNV R804S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 243035 chr10 73765708 73765708 C G rs77124584 CHST3 Synonymous SNV V36V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.31 243036 chr10 73767350 73767350 G C rs147804585 CHST3 Synonymous SNV V187V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.927 243037 chr10 73767962 73767962 C A rs115579748 CHST3 Synonymous SNV I391I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.86 243038 chr13 108955834 108955834 A G rs535010433 TNFSF13B Synonymous SNV G190G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.905 243039 chr10 77160058 77160058 G A rs72807457 ZNF503 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 243040 chr10 85970906 85970906 C T rs150577739 CDHR1 Synonymous SNV S490S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 16.3 243041 chr13 111870214 111870214 G A ARHGEF7 Synonymous SNV E62E 0 0 0 3 0 0 0.008 0 0 0 0 0 10.99 243042 chr9 117266720 117266720 G T rs549584611 WHRN Nonsynonymous SNV P121H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.17 243043 chr13 113508683 113508683 C T rs142442696 ATP11A Synonymous SNV A694A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.51 243044 chr4 37636545 37636545 C T rs201116768 RELL1 Nonsynonymous SNV R215Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 243045 chr11 1017903 1017903 G T MUC6 Nonsynonymous SNV T1633N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.06 243046 chr1 166890139 166890139 G A rs748366899 ILDR2 Synonymous SNV A563A 0 0.003 0 3 0 1 0.008 0 0 0 0 0 12.4 243047 chr16 68087557 68087557 T A DUS2 Nonsynonymous SNV M88K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 243048 chr10 96827040 96827040 T C rs781440953 CYP2C8 Nonsynonymous SNV M34V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 243049 chr16 70516652 70516652 C T rs772560552 COG4 Nonsynonymous SNV V609I 0 0 0.003 0 0 0 0 1 0 0 0 0 21 243050 chr4 435883 435883 C G rs371250652 ZNF721 Synonymous SNV T791T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 243051 chr4 435903 435903 C G rs201461396 ZNF721 Nonsynonymous SNV E785Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 243052 chr4 44176958 44176958 T C KCTD8 Nonsynonymous SNV N424S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.656 243053 chr10 101294745 101294745 G T rs563597346 NKX2-3 Nonsynonymous SNV S121I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 243054 chr11 10552284 10552284 G A RNF141 Nonsynonymous SNV A53V 0 0 0 1 0 0 0.003 0 0 0 0 0 22 243055 chr10 102676953 102676953 A G SLF2 Nonsynonymous SNV S271G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 243056 chr16 72992728 72992728 T C rs775939875 ZFHX3 Synonymous SNV A439A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 243057 chr16 73127604 73127604 T C HCCAT5 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 243058 chr11 108143537 108143537 A G rs368111672 ATM Nonsynonymous SNV N1081S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.037 243059 chr4 5633752 5633752 A G rs202210260 EVC2 Nonsynonymous SNV V413A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.007 243060 chr16 75263551 75263551 C T rs748287374 BCAR1 Nonsynonymous SNV R614H 0 0 0.007 0 0 0 0 2 0 0 0 0 33 243061 chr10 105128142 105128142 C A rs746038944 TAF5 Synonymous SNV A132A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.17 243062 chr10 105209433 105209433 C T rs766614483 CALHM2 Nonsynonymous SNV R89Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 243063 chr10 111628424 111628424 A C rs762032818 XPNPEP1 Nonsynonymous SNV L493W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 243064 chr16 81232327 81232327 G C rs745348901 PKD1L2 Nonsynonymous SNV H495D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 243065 chr10 113935425 113935425 G C GPAM Nonsynonymous SNV Q116E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.7 243066 chr13 60485888 60485888 G C rs762976893 DIAPH3 Nonsynonymous SNV P520R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 243067 chr11 67223136 67223136 C T rs148140510 CABP4 Nonsynonymous SNV A81V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.061 243068 chr10 115614648 115614648 G C NHLRC2 Nonsynonymous SNV G6A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 243069 chr9 135251349 135251349 C T rs538111562 TTF1 Nonsynonymous SNV A376T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.474 243070 chr10 118957137 118957137 C T rs149711267 KCNK18 Synonymous SNV D46D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.056 243071 chr16 86580180 86580180 C T rs954477348 MTHFSD Nonsynonymous SNV A143T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 243072 chr4 71509714 71509714 A G rs1031118238 ENAM Synonymous SNV P639P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.013 243073 chr4 71555264 71555264 C A rs146828085 UTP3 Synonymous SNV V290V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 243074 chr14 100125836 100125836 C T HHIPL1 Nonsynonymous SNV P373L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 243075 chr10 123325039 123325039 C T rs372430349 FGFR2 Nonsynonymous SNV A97T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 243076 chr4 76481300 76481300 G A rs200345295 ODAPH Nonsynonymous SNV R3H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.37 243077 chr16 88786263 88786263 G A rs776666199 PIEZO1 Synonymous SNV L2090L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.606 243078 chr16 89735893 89735893 T C rs144990515 SPATA33 Synonymous SNV H106H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 243079 chr16 89986614 89986614 C T rs151318945 MC1R Synonymous SNV S316S 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 7.51 243080 chr16 90095559 90095559 T G rs138059586 GAS8-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 0.651 243081 chr14 105181018 105181018 C G rs767075044 INF2 Nonsynonymous SNV D1173E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 8.389 243082 chr11 124757306 124757306 G A ROBO4 Nonsynonymous SNV P571S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.32 243083 chr17 15968887 15968887 T C rs7210057 NCOR1 Synonymous SNV Q1637Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.599 243084 chr17 16001756 16001756 G A rs79413281 NCOR1 Synonymous SNV L822L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.8 243085 chr10 135209680 135209680 G C rs147934877 MTG1 Nonsynonymous SNV G64A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 243086 chr17 16892335 16892335 G A rs61745512 LINC02090 0 0 0.007 0 0 0 0 2 0 0 0 0 3.295 243087 chr17 17041403 17041403 G A rs779116299 MPRIP Nonsynonymous SNV E336K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 243088 chr11 197374 197374 A G ODF3 Nonsynonymous SNV S24G 0.003 0 0 0 3 0 0 0 0 0 0 0 9.151 243089 chr5 1035006 1035006 C G rs780433973 NKD2 Nonsynonymous SNV P188A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 243090 chr17 17697306 17697306 C T rs142316059 RAI1 Synonymous SNV R348R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.496 243091 chr17 18149109 18149109 T G FLII Nonsynonymous SNV Q1096P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 243092 chr5 112920091 112920091 G A rs761351976 YTHDC2 Nonsynonymous SNV R947Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 243093 chr5 115249153 115249153 G A rs3803703 AP3S1 Nonsynonymous SNV S115N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.343 243094 chr11 17548863 17548863 C T rs145013633 USH1C Nonsynonymous SNV V135I 0.005 0 0 4 6 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 243095 chr11 837529 837529 - GTGGCCGT CD151 Frameshift insertion V180Afs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 243096 chr5 123983471 123983471 G A rs142166126 ZNF608 Nonsynonymous SNV S869L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 243097 chr5 128301929 128301929 C T rs779715866 SLC27A6 Synonymous SNV F33F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 243098 chr14 24653538 24653538 C T rs780298284 IPO4 Nonsynonymous SNV D575N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.51 243099 chr5 130834170 130834170 A G rs748347202 RAPGEF6 Nonsynonymous SNV L462S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 243100 chr5 131649405 131649405 T A rs147297796 SLC22A4 Stop gain L199X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 243101 chr5 132537677 132537677 C T FSTL4 Nonsynonymous SNV G592R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 243102 chr10 28149764 28149764 T G ARMC4 Nonsynonymous SNV K462N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 22.8 243103 chr17 28645928 28645928 T A rs747068032 TMIGD1 Nonsynonymous SNV K215I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 243104 chr17 28788324 28788324 G T CPD Nonsynonymous SNV V962L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 243105 chr17 30469470 30469470 - CCG LOC105371730 0 0 0.003 0 0 0 0 1 0 0 0 0 243106 chr5 13708284 13708284 C T rs61744047 DNAH5 Nonsynonymous SNV R4429Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 243107 chr19 4513152 4513152 C G rs773022422 PLIN4 Nonsynonymous SNV G274R 0.004 0 0 1 5 0 0.003 0 0 0 0 0 23.8 243108 chr5 13727716 13727716 G A rs753473802 DNAH5 Nonsynonymous SNV P3978L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243109 chr5 137354729 137354729 T C FAM13B Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.072 243110 chr11 28104484 28104484 T C rs558049660 KIF18A Nonsynonymous SNV Y394C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 243111 chr11 31703579 31703579 G A rs748647111 ELP4 Nonsynonymous SNV R463H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.168 243112 chr17 3680937 3680937 C T rs201123134 ITGAE Nonsynonymous SNV A18T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 243113 chr5 140699023 140699023 G A rs759791725 TAF7 Synonymous SNV L197L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.958 243114 chr17 38506170 38506170 C T rs763751907 RARA Synonymous SNV S149S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 243115 chr17 38975793 38975793 C T rs756736481 KRT10 Nonsynonymous SNV R450H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 243116 chr11 47189731 47189731 G A ARFGAP2 Nonsynonymous SNV S310F 0 0 0 1 0 0 0.003 0 0 0 0 0 31 243117 chr14 65208362 65208362 C G PLEKHG3 Synonymous SNV L709L 0 0 0 3 0 0 0.008 0 0 0 0 0 0.618 243118 chr17 41454969 41454969 C T rs747738754 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 9.875 243119 chr5 156525904 156525904 G A rs778542518 HAVCR2 Stop gain Q163X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 243120 chr5 156566228 156566228 A T rs748521096 MED7 Nonsynonymous SNV F72Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.14 243121 chr1 244580929 244580929 C T rs748168597 ADSS2 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 243122 chr5 158134595 158134595 C T EBF1 Synonymous SNV P539P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 243123 chr5 167675001 167675001 C T rs370796607 TENM2 Nonsynonymous SNV H2114Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 243124 chr11 6024001 6024001 G C rs141110808 OR56A4 Nonsynonymous SNV I74M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 243125 chr17 4712641 4712641 C T rs138074240 PLD2 Nonsynonymous SNV R180C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 243126 chr5 176638730 176638730 C T rs541077303 NSD1 Synonymous SNV F1110F 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 9.299 243127 chr5 176765522 176765522 C T rs141477421 LMAN2 Nonsynonymous SNV A134T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243128 chr11 5462038 5462038 C T rs137878267 OR51I1 Nonsynonymous SNV R236Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 243129 chr11 5603007 5603007 G A rs199859558 OR52B6 Nonsynonymous SNV V301I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.78 243130 chr15 23889971 23889971 C T rs544938560 MAGEL2 Synonymous SNV P973P 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 5.259 243131 chr5 31541450 31541450 C T rs142007850 C5orf22 Synonymous SNV F311F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.7 243132 chr1 29606000 29606000 G A rs146208154 PTPRU Synonymous SNV P532P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 14.78 243133 chr19 56090573 56090573 C T ZNF579 Nonsynonymous SNV G145S 0.005 0 0 0 6 0 0 0 0 0 0 0 11.39 243134 chr17 63957663 63957663 T G rs375839037 CEP112 Nonsynonymous SNV Q555P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 243135 chr17 65850650 65850650 T A BPTF Nonsynonymous SNV L403H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 243136 chr15 38545412 38545412 A T rs200157475 SPRED1 Nonsynonymous SNV D9V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.95 243137 chr1 3649370 3649370 G A rs768495559 TP73 Synonymous SNV Q416Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.745 243138 chr1 3750567 3750567 C A CEP104 Nonsynonymous SNV M506I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 243139 chr11 22747923 22747923 C A rs760338425 GAS2 Nonsynonymous SNV S118Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 243140 chr17 72694613 72694613 G A CD300LF Nonsynonymous SNV L167F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 243141 chr17 72860456 72860456 C T rs763488904 FDXR Synonymous SNV P232P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.042 243142 chr11 35232826 35232826 C G rs911532913 CD44 Nonsynonymous SNV P234R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.251 243143 chr11 45926732 45926732 C T rs758091837 MAPK8IP1 Synonymous SNV A665A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 243144 chr17 73916165 73916165 C T rs759108333 FBF1 Synonymous SNV R618R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.87 243145 chr17 73998492 73998492 C G rs753726718 CDK3 Nonsynonymous SNV T160S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 243146 chr17 74015027 74015027 C T rs368754327 EVPL Nonsynonymous SNV V418M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 243147 chr5 77334976 77334976 G A rs756834284 AP3B1 Synonymous SNV V851V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.28 243148 chr11 6048550 6048550 G A rs150942884 OR56A1 Nonsynonymous SNV R129C 0 0 0 2 0 0 0.005 0 0 0 0 0 16.58 243149 chr17 76267738 76267738 T C rs182632561 LINC01993 0 0 0.007 0 0 0 0 2 0 0 0 0 1.056 243150 chr5 79089379 79089379 G T CMYA5 Nonsynonymous SNV G3970V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 243151 chr5 80063847 80063847 G A rs144019582 MSH3 Synonymous SNV Q664Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.334 243152 chr15 56208227 56208227 A G rs138346814 NEDD4 Nonsynonymous SNV I268T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 243153 chr11 794491 794491 C T rs150242281 SLC25A22 Nonsynonymous SNV V57I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 9.753 243154 chr17 7793908 7793908 G A rs756074044 CHD3 Nonsynonymous SNV G137D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 243155 chr11 6291535 6291535 T C rs1805003 CCKBR Synonymous SNV H123H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.554 243156 chr17 78357601 78357601 A C rs148776624 RNF213 Nonsynonymous SNV K4732T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.418 243157 chr11 6340567 6340567 G A rs144522181 CAVIN3 Synonymous SNV P204P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.36 243158 chr6 108042001 108042001 G A rs768433594 SCML4 Synonymous SNV S51S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.548 243159 chr17 79353654 79353654 G A LOC100130370 Nonsynonymous SNV P44L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.888 243160 chr17 7983177 7983177 G A rs371049079 ALOX12B Synonymous SNV R279R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 243161 chr17 7983178 7983178 C T ALOX12B Nonsynonymous SNV R279H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 243162 chr17 80014615 80014615 C T GPS1 Synonymous SNV I409I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.022 243163 chr17 80540667 80540667 G A rs140638658 FOXK2 Synonymous SNV P320P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.963 243164 chr1 11024211 11024211 C A C1orf127 Nonsynonymous SNV V25F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 243165 chr1 94502755 94502755 C T rs147884766 ABCA4 Synonymous SNV T1253T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.52 243166 chr18 44435559 44435559 T C PIAS2 Nonsynonymous SNV R202G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 243167 chr11 7689017 7689017 C T rs140835426 CYB5R2 Nonsynonymous SNV R167H 0 0 0 2 0 0 0.005 0 0 0 0 0 35 243168 chr11 8671327 8671327 G A rs1003804871 TRIM66 Synonymous SNV P39P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.652 243169 chr16 14041952 14041952 A C ERCC4 Synonymous SNV A833A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.873 243170 chr11 61584139 61584139 C T FADS1, FADS2 Nonsynonymous SNV H29Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.265 243171 chr18 74721842 74721842 - GAGAGGG MBP Frameshift insertion H73Pfs*40 0 0 0.003 0 0 0 0 1 0 0 0 0 243172 chr6 168710977 168710977 G A rs371504350 DACT2 Nonsynonymous SNV R7W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 243173 chr6 170036572 170036572 T C rs182986174 WDR27 Nonsynonymous SNV Q442R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 243174 chr19 10402765 10402765 C G rs758190772 ICAM5 Nonsynonymous SNV S243W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 243175 chr6 26043730 26043730 G A rs768195915 HIST1H2BB Synonymous SNV D52D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.266 243176 chr6 26107831 26107832 AC - rs775955569 HIST1H1T Stop gain V164* 0.001 0 0.003 0 1 0 0 1 0 0 0 0 243177 chr6 26412970 26412970 A G rs766709909 BTN3A1 Synonymous SNV K352K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.404 243178 chr11 65363236 65363236 C T rs750742058 KCNK7 Nonsynonymous SNV G3D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.914 243179 chr11 65635806 65635806 T C rs148410446 EFEMP2 Nonsynonymous SNV T312A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.279 243180 chr11 65650821 65650821 T A rs141691755 CTSW Nonsynonymous SNV S316T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.805 243181 chr6 3019888 3019888 A C rs1003967429 NQO2 X194S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.234 243182 chr19 11888518 11888518 G C rs7248102 ZNF441 Synonymous SNV V32V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.1 243183 chr20 47865967 47865967 C T rs146287599 ZNFX1 Synonymous SNV S1198S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.93 243184 chr6 33659456 33659456 G A ITPR3 Nonsynonymous SNV M2430I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 243185 chr6 34826653 34826653 C T rs748818933 UHRF1BP1 Synonymous SNV R840R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 243186 chr19 15473043 15473043 C T AKAP8 Nonsynonymous SNV V394I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 243187 chr16 3139535 3139535 A G rs765435136 ZSCAN10 Nonsynonymous SNV C240R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 243188 chr12 113629240 113629240 C T rs150414529 RITA1 Nonsynonymous SNV T167M 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 25.1 243189 chr19 15791299 15791299 G T rs141478890 CYP4F12 Synonymous SNV T165T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.403 243190 chr11 74415574 74415574 G A rs538183788 CHRDL2 Synonymous SNV G171G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.373 243191 chr13 76457358 76457358 C T LMO7DN 0 0.003 0 2 0 1 0.005 0 0 0 0 1 1.224 243192 chr11 27389537 27389540 TTCA - LGR4 D886Efs*47 0.001 0.003 0 0 1 1 0 0 0 0 0 0 243193 chr6 41555167 41555167 C T rs146299057 FOXP4 Synonymous SNV A263A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 243194 chr11 76867986 76867986 G A rs781913730 MYO7A Nonsynonymous SNV R224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 243195 chr6 43022138 43022138 G C rs111832004 MRPL2 Synonymous SNV R264R 0.003 0 0 0 3 0 0 0 0 0 0 0 10.46 243196 chr6 43173917 43173917 G A rs146958034 CUL9 Nonsynonymous SNV D1656N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 243197 chr19 17918772 17918772 - GCCCCCCCCC B3GNT3 Frameshift insertion P53Afs*53 0 0 0.003 0 0 0 0 1 0 0 0 0 243198 chr6 44413493 44413493 C T rs371452371 CDC5L Synonymous SNV L731L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 243199 chr11 48142568 48142568 G A PTPRJ Synonymous SNV V122V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.434 243200 chr12 12509948 12509948 C T LOH12CR2 0 0 0 1 0 0 0.003 0 0 0 0 0 17.13 243201 chr19 19735185 19735185 G A rs144833106 LPAR2 Synonymous SNV C312C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.554 243202 chr11 101342034 101342034 G A rs200640958 TRPC6 Synonymous SNV P763P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.602 243203 chr6 52962574 52962574 C A rs375935034 FBXO9 Synonymous SNV P430P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.91 243204 chr12 132547094 132547102 CAGCAGCAG - EP400 Q2746_Q2748del 0 0 0 1 0 0 0.003 0 0 0 0 0 243205 chr12 132547102 132547102 - CAGCAGCAG EP400 Q2748_T2749insQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 243206 chr6 54003062 54003062 G C rs753112976 MLIP Nonsynonymous SNV G721A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.52 243207 chr19 22780200 22780200 G C rs11085537 GOLGA2P9 0 0 0.007 0 0 0 0 2 0 0 0 0 8.146 243208 chr6 56044911 56044911 C T rs375243994 COL21A1 Synonymous SNV P35P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.46 243209 chr19 24345359 24345359 A G rs188695249 HAVCR1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.981 243210 chr6 64394036 64394036 T C rs143991288 PHF3 Nonsynonymous SNV V50A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 243211 chr11 55681149 55681149 - T OR5W2 Frameshift insertion L304Tfs*4 0.002 0.003 0 0 2 1 0 0 0 0 0 0 243212 chr19 33904511 33904511 C T rs577079343 PEPD Nonsynonymous SNV R196H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 243213 chr11 114276434 114276434 C T rs373135280 RBM7 Synonymous SNV Y118Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 243214 chr19 35250911 35250911 T A rs146968235 ZNF599 Nonsynonymous SNV K265N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.96 243215 chr19 35761439 35761439 C T rs756872144 USF2 Synonymous SNV S106S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 243216 chr19 35829322 35829322 C T rs61743666 CD22 Synonymous SNV L241L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.47 243217 chr6 75843594 75843594 C T rs757943935 COL12A1 Nonsynonymous SNV A718T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 243218 chr6 7727783 7727783 C G rs551211683 BMP6 Nonsynonymous SNV P199A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 243219 chr12 40034796 40034796 G - C12orf40 E22Nfs*8 0.002 0.008 0 2 2 3 0.005 0 0 0 0 0 243220 chr6 90428865 90428865 T C rs771046337 MDN1 Nonsynonymous SNV Y2016C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.68 243221 chr19 37005511 37005511 A G ZNF260 Synonymous SNV H210H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.292 243222 chr19 3765267 3765267 C T rs34107656 MRPL54 Synonymous SNV G74G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.98 243223 chr7 100088653 100088653 G A rs149781579 NYAP1 Nonsynonymous SNV G735R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 243224 chr19 3831446 3831446 G A rs766516856 ZFR2 Nonsynonymous SNV P236L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 243225 chr16 84230299 84230299 C T rs113320776 ADAD2 Nonsynonymous SNV R525W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.758 243226 chr19 38817899 38817899 G A rs144968555 KCNK6 Synonymous SNV T266T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 243227 chr21 47423549 47423549 C T rs139018148 COL6A1 Synonymous SNV A903A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.776 243228 chr19 38976629 38976629 G A rs35566549 RYR1 Synonymous SNV S1778S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.2 243229 chr7 100549891 100549891 A G rs753071309 MUC3A Nonsynonymous SNV T158A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.408 243230 chr11 124412705 124412705 G T rs149461306 OR8B12 Synonymous SNV P282P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.461 243231 chr19 39691087 39691087 G A rs768983205 NCCRP1 Nonsynonymous SNV R217Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 243232 chr12 49221494 49221494 C T rs111729272 CACNB3 Nonsynonymous SNV R382C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 243233 chr22 17640087 17640087 G T rs186763825 HDHD5 Synonymous SNV R19R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.691 243234 chr7 100552025 100552025 C G rs765613676 MUC3A Nonsynonymous SNV T869S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 243235 chr14 68086704 68086704 A T rs143988405 ARG2 Nonsynonymous SNV R4W 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 23.4 243236 chr11 63276427 63276427 C T LGALS12 Synonymous SNV F73F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.07 243237 chr7 100675761 100675761 C T rs150423564 MUC17 Nonsynonymous SNV S355L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 243238 chr19 44590380 44590380 G A rs200659383 ZNF284 Nonsynonymous SNV C250Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.75 243239 chr12 6172211 6172211 C T rs772554807 VWF Nonsynonymous SNV R481H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 243240 chr19 44676340 44676340 G A rs199602003 ZNF226 Nonsynonymous SNV E39K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 243241 chr14 74876348 74876348 A C SYNDIG1L Nonsynonymous SNV C34G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.804 243242 chr7 122526314 122526314 G A rs548984807 CADPS2 Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 243243 chr17 17891413 17891413 G A rs745637558 DRC3 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.4 243244 chr17 19287787 19287787 G A rs770020158 MFAP4 Synonymous SNV I276I 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.362 243245 chr19 49357313 49357313 C T rs532724867 PLEKHA4 Nonsynonymous SNV R351Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27 243246 chr7 140225578 140225578 G A rs61737086 DENND2A Synonymous SNV D840D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.61 243247 chr7 140227274 140227274 G A rs376819636 DENND2A Synonymous SNV H783H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.69 243248 chr19 51171588 51171588 G T rs774770529 SHANK1 Nonsynonymous SNV S1210Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 243249 chr12 76784233 76784233 G C rs375384946 OSBPL8 Synonymous SNV T353T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.9 243250 chr12 82752408 82752408 G A rs749709750 METTL25 Nonsynonymous SNV G22R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 243251 chr12 32908443 32908443 C G YARS2 Synonymous SNV P122P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.74 243252 chr12 39047754 39047754 C T rs145635815 CPNE8 Nonsynonymous SNV R542Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 243253 chr7 148288063 148288063 A G rs770845401 C7orf33 Nonsynonymous SNV R16G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 243254 chr17 35549234 35549234 G A ACACA Nonsynonymous SNV R1310C 0 0 0 4 0 0 0.01 0 0 0 0 0 34 243255 chr19 53518667 53518667 A G ERVV-1 Nonsynonymous SNV I442V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 243256 chr19 53761683 53761683 G A rs201135902 VN1R2 Nonsynonymous SNV A19T 0 0 0.007 0 0 0 0 2 0 0 0 0 9.035 243257 chr17 37374384 37374384 G A rs143497706 STAC2 Stop gain R45X 0 0 0 3 0 0 0.008 0 0 0 0 0 37 243258 chr19 54290947 54290947 G C rs1034874198 MIR371A, MIR371B 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 243259 chr7 151065037 151065037 T C rs762332598 NUB1 Nonsynonymous SNV Y384H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.514 243260 chr7 1515926 1515926 C T rs200824374 INTS1 Nonsynonymous SNV D1773N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.379 243261 chr2 100194833 100194833 G A rs372813543 AFF3 Synonymous SNV N983N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.83 243262 chr19 55175308 55175308 G A LILRB4 Nonsynonymous SNV R85Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.864 243263 chr7 156967663 156967663 G A rs576218768 UBE3C Synonymous SNV Q131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.816 243264 chr19 55568176 55568176 C T RDH13 Nonsynonymous SNV G62E 0 0 0.003 0 0 0 0 1 0 0 0 0 31 243265 chr2 102632407 102632407 T C IL1R2 Nonsynonymous SNV I136T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 243266 chr19 5593912 5593912 C T SAFB2 Nonsynonymous SNV D733N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 243267 chr11 116692557 116692557 C T rs757539189 APOA4 Nonsynonymous SNV A73T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.468 243268 chr11 117109486 117109486 T C rs375427383 RNF214 Synonymous SNV L93L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.329 243269 chr12 53237977 53237977 T G rs746370723 KRT78 Nonsynonymous SNV Q206P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 243270 chr1 27697399 27697399 C T FCN3 Nonsynonymous SNV G142D 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 243271 chr7 24789307 24789307 A T rs148370267 GSDME Nonsynonymous SNV D29E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.1 243272 chr1 32149589 32149589 G A COL16A1 Nonsynonymous SNV P767S 0.003 0 0 0 4 0 0 0 0 0 0 0 22.3 243273 chr12 56638161 56638161 C T rs770726982 ANKRD52 Synonymous SNV T927T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 243274 chr19 58058546 58058546 A G ZNF550 Nonsynonymous SNV S356P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 243275 chr7 3678679 3678679 C T rs376569849 SDK1 Nonsynonymous SNV R168C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 243276 chr7 3681647 3681647 C G rs150788248 SDK1 Nonsynonymous SNV A208G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 243277 chr12 57397690 57397690 G A rs141443423 ZBTB39 Nonsynonymous SNV R338W 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 27.2 243278 chr7 39491260 39491260 C T rs150437987 POU6F2 Synonymous SNV S483S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.6 243279 chr7 40228132 40228132 G T rs913673123 SUGCT Nonsynonymous SNV V96F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 243280 chr12 57924533 57924533 A G DCTN2 Nonsynonymous SNV L384P 0.001 0 0 0 1 0 0 0 0 0 0 0 27 243281 chr19 59074083 59074083 G A rs767108912 MZF1 Nonsynonymous SNV R521C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 243282 chr12 70273139 70273139 G A rs566639800 MYRFL Nonsynonymous SNV A124T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 243283 chr19 7964384 7964384 C A rs370392318 LRRC8E Nonsynonymous SNV T197N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 243284 chr19 8161366 8161366 C T rs149009479 FBN3 Nonsynonymous SNV R1834H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 243285 chr19 8186236 8186236 G A rs373183692 FBN3 Synonymous SNV C1039C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.997 243286 chr7 4876141 4876141 A G RADIL Synonymous SNV L211L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 243287 chr7 50023050 50023050 T C rs777752341 ZPBP Synonymous SNV Q282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 243288 chr19 855653 855653 G A rs200599820 ELANE Synonymous SNV L152L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.247 243289 chr1 47148999 47148999 A T rs1035742704 EFCAB14 Nonsynonymous SNV S429T 0.003 0 0 0 4 0 0 0 0 0 0 0 15.48 243290 chr7 5266829 5266829 C T rs146017204 WIPI2 Synonymous SNV T230T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 243291 chr1 52841222 52841222 C T rs139719426 ORC1 Nonsynonymous SNV R728H 0.003 0 0 0 4 0 0 0 0 0 0 0 35 243292 chr1 53250554 53250554 G A rs771578467 ZYG11B Synonymous SNV V366V 0.003 0 0 0 4 0 0 0 0 0 0 0 10.29 243293 chr7 6566237 6566237 C G GRID2IP Nonsynonymous SNV A250P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 243294 chr1 54640295 54640295 G C CYB5RL Nonsynonymous SNV F236L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.3 243295 chr19 9071387 9071387 T A rs138695554 MUC16 Synonymous SNV T5353T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.586 243296 chr1 55470706 55470706 C T rs144505461 BSND Synonymous SNV V63V 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign/Likely benign 14.37 243297 chr7 82531995 82531995 T G rs529372667 PCLO Synonymous SNV T4500T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 243298 chr1 104615715 104615715 G A rs141938920 LOC100129138 0 0 0.007 0 0 0 0 2 0 0 0 0 6.797 243299 chr7 91503524 91503524 C T rs200438840 MTERF1 Nonsynonymous SNV R175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 243300 chr2 190597871 190597871 G A ANKAR Synonymous SNV G1113G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.739 243301 chr14 20929350 20929350 G A rs953667398 PIP4P1 Synonymous SNV Y45Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.588 243302 chr7 92055770 92055770 G C rs538169936 TMBIM7P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.611 243303 chr7 92764590 92764590 C T rs574472008 SAMD9L Nonsynonymous SNV R232H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 243304 chr7 98254242 98254242 G A rs778350750 NPTX2 Nonsynonymous SNV A218T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 243305 chr7 98785958 98785958 C G rs191355534 KPNA7 Nonsynonymous SNV V289L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 243306 chr12 122674757 122674757 G A rs372790097 LRRC43 Nonsynonymous SNV R248Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 243307 chr1 113244325 113244325 C T rs147557411 RHOC Nonsynonymous SNV R140Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 243308 chr1 114952870 114952870 G A rs752816848 TRIM33 Synonymous SNV P710P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 243309 chr14 23511635 23511635 G A rs201918029 PSMB11 Synonymous SNV T67T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.06 243310 chr1 1168510 1168510 G A B3GALT6 Synonymous SNV E284E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.39 243311 chr8 110631085 110631085 C G rs372309010 SYBU Nonsynonymous SNV G19A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 243312 chr12 132512070 132512070 G A rs116870851 EP400 Synonymous SNV P1701P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign 11.64 243313 chr8 117954810 117954810 T C rs114091176 AARD Nonsynonymous SNV F113S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 243314 chr8 118533208 118533208 G T rs199797593 MED30 Synonymous SNV A31A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 243315 chr8 124140521 124140521 T G rs570441854 TBC1D31 Nonsynonymous SNV F129V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 243316 chr8 124157071 124157071 - A rs747284173 TBC1D31 Frameshift insertion H783Qfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 243317 chr13 25370332 25370332 G A rs779391952 RNF17 Nonsynonymous SNV R433Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 243318 chr12 48533132 48533132 G A rs187131358 PFKM Nonsynonymous SNV R376Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 243319 chr8 128751200 128751200 C G rs545330879 MYC Nonsynonymous SNV P245R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 243320 chr14 57749893 57749893 G A rs1001591112 AP5M1 Nonsynonymous SNV S413N 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 8.663 243321 chr1 153984832 153984832 T G rs757540856 NUP210L Synonymous SNV A1556A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 243322 chr1 154918182 154918182 G C rs185906873 PBXIP1 Nonsynonymous SNV F501L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 243323 chr13 43491691 43491691 C T EPSTI1 Nonsynonymous SNV E116K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 243324 chr20 18167960 18167960 G A rs370726181 KAT14 Nonsynonymous SNV V736I 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 243325 chr8 144403546 144403546 C G TOP1MT Nonsynonymous SNV R226T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 243326 chr14 65381168 65381168 G C rs201273158 CHURC1, CHURC1-FNTB Synonymous SNV S12S 0.001 0.005 0.003 2 1 2 0.005 1 0 0 0 0 16.09 243327 chr1 156836719 156836719 C A rs539589077 NTRK1 Nonsynonymous SNV A126D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 243328 chr20 2083482 2083482 G A rs774584261 STK35 Synonymous SNV R121R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.579 243329 chr8 144788904 144788904 T C rs190740424 CCDC166 Nonsynonymous SNV N427S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 243330 chr8 144941136 144941136 C T rs532157702 EPPK1 Nonsynonymous SNV D2096N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 243331 chr1 160062202 160062202 G A rs748292059 IGSF8 Synonymous SNV H532H 0 0 0.007 0 0 0 0 2 0 0 0 0 6.305 243332 chr13 100634359 100634359 T C ZIC2 Nonsynonymous SNV V14A 0.001 0 0 0 1 0 0 0 0 0 0 0 26 243333 chr1 160523243 160523243 C T rs201878319 CD84 Nonsynonymous SNV V115M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 243334 chr8 145559796 145559796 A C rs373685084 SCRT1 Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.593 243335 chr17 8170349 8170349 C T rs199941998 PFAS Nonsynonymous SNV R991W 0 0 0 2 0 0 0.005 0 0 0 0 0 29.6 243336 chr1 167064161 167064161 G A DUSP27 Synonymous SNV V25V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 243337 chr20 33879708 33879708 C T rs35162625 FAM83C Nonsynonymous SNV E134K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 243338 chr1 169696631 169696631 T C SELE Nonsynonymous SNV I502V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 243339 chr1 171509205 171509205 A C PRRC2C Nonsynonymous SNV E865A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 243340 chr1 17550898 17550898 A T rs56319324 PADI1 Nonsynonymous SNV K128M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.2 243341 chr8 20004824 20004824 A G rs200509773 SLC18A1 Nonsynonymous SNV V438A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 243342 chr1 179401479 179401491 TAAGACTTTTTAA - AXDND1 0 0 0.003 0 0 0 0 1 0 0 0 0 243343 chr2 27256990 27256990 G T TMEM214 Nonsynonymous SNV K69N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 243344 chr8 22451372 22451372 G A rs529093963 PDLIM2 Synonymous SNV K336K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 243345 chr8 22488027 22488027 G A rs542000407 BIN3 Synonymous SNV D27D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.591 243346 chr15 101549217 101549217 A G rs762350334 LRRK1 Nonsynonymous SNV H313R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 243347 chr1 185259904 185259904 G T SWT1 Nonsynonymous SNV W891L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 243348 chr15 27772700 27772700 C T rs772138833 GABRG3 Synonymous SNV A329A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.48 243349 chr18 5416239 5416239 G A EPB41L3 Nonsynonymous SNV H549Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.163 243350 chr16 67220521 67220521 C T rs932022385 EXOC3L1 Nonsynonymous SNV E442K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18 243351 chr16 67662323 67662323 C T rs761420338 CTCF Synonymous SNV Y195Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.62 243352 chr15 40678681 40678681 G A KNSTRN Synonymous SNV L141L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.352 243353 chr8 41522422 41522422 G T rs145094714 ANK1 Synonymous SNV I40I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.84 243354 chr8 42977576 42977576 C T rs567303957 POMK Synonymous SNV C203C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.94 243355 chr16 69369183 69369183 G A COG8 Synonymous SNV T218T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.803 243356 chr8 52320716 52320716 G T rs144719769 PXDNL Nonsynonymous SNV F1156L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 243357 chr16 71319020 71319020 G A rs755781989 CMTR2 Synonymous SNV N268N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.167 243358 chr16 71319287 71319287 T C rs759417396 CMTR2 Synonymous SNV E179E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 243359 chr16 71319503 71319503 A G CMTR2 Synonymous SNV N107N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.209 243360 chr16 71884510 71884510 C T ATXN1L Synonymous SNV S289S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.505 243361 chr12 113617042 113617042 C T rs201119519 DDX54 Nonsynonymous SNV R157Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 243362 chr8 66659949 66659949 G A rs771947064 PDE7A Nonsynonymous SNV R125C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243363 chr8 68128856 68128856 G T rs142098461 ARFGEF1 Nonsynonymous SNV P1552Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.214 243364 chr15 43552404 43552404 G C rs144607106 TGM5 Synonymous SNV T94T 0.001 0.005 0 2 1 2 0.005 0 0 0 0 0 Benign/Likely benign 0.172 243365 chr14 58832862 58832862 C T rs201425263 ARID4A Nonsynonymous SNV P1146L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243366 chr8 92355599 92355599 C T rs113085952 SLC26A7 Nonsynonymous SNV L48F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.9 243367 chr1 215259862 215259862 C T KCNK2 Synonymous SNV F62F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 243368 chr8 9912143 9912156 CCGGAAGGAACAGA - rs762775228 MSRA R40Pfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 243369 chr9 100975453 100975453 C T rs558789918 TBC1D2 Synonymous SNV E14E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 243370 chr12 129189681 129189681 C T rs753837106 TMEM132C Nonsynonymous SNV T723M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.56 243371 chr2 97483198 97483198 A G rs372431096 CNNM3 Nonsynonymous SNV N395S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.21 243372 chr1 228109381 228109381 C A rs144400080 WNT9A Nonsynonymous SNV R312S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 243373 chr1 228109506 228109506 G A rs148384382 WNT9A Nonsynonymous SNV R271W 0 0 0.003 0 0 0 0 1 0 0 0 0 24 243374 chr1 22837809 22837809 G T rs745312859 ZBTB40 Synonymous SNV L545L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 243375 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTT SKA3 0.001 0 0 0 1 0 0 0 0 0 0 0 243376 chr14 77492318 77492318 A G IRF2BPL Synonymous SNV H606H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 243377 chr1 228562449 228562449 G A OBSCN Synonymous SNV K7553K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 243378 chr14 81862362 81862362 G A rs148311461 STON2 Synonymous SNV S83S 0.004 0 0 2 5 0 0.005 0 0 0 0 0 11.04 243379 chr1 231906607 231906607 G A DISC1 Synonymous SNV R125R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 243380 chr19 15648393 15648393 C T rs761196649 CYP4F22 Nonsynonymous SNV R157C 0 0 0 3 0 0 0.008 0 0 0 0 0 34 243381 chr9 123580228 123580228 A C rs778231981 PSMD5 Nonsynonymous SNV Y448D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 243382 chr13 35733155 35733155 C T rs377632016 NBEA Synonymous SNV V949V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.69 243383 chr15 77426013 77426013 T C rs528175387 PEAK1 Synonymous SNV G1137G 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.002 243384 chr14 93178279 93178279 T G rs143914416 LGMN Nonsynonymous SNV N211T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 243385 chr9 124440960 124440960 C T rs377594976 DAB2IP Nonsynonymous SNV S15L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 243386 chr9 124855423 124855423 C T TTLL11 Nonsynonymous SNV R92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 243387 chr9 125140732 125140732 C T rs181947887 PTGS1 Nonsynonymous SNV R78W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243388 chr1 23695670 23695670 G T rs142620463 ZNF436-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.262 243389 chr1 241798866 241798866 A G rs754659272 CHML Nonsynonymous SNV I68T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 243390 chr9 125562507 125562507 T A rs773507010 OR1K1 Nonsynonymous SNV Y36N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 243391 chr19 17679355 17679355 G A rs200477437 COLGALT1 Nonsynonymous SNV R221H 0 0 0 3 0 0 0.008 0 0 0 0 0 28.9 243392 chr14 102792851 102792851 C T rs199677123 ZNF839 Nonsynonymous SNV A157V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243393 chr9 130474122 130474122 G A rs762649918 CFAP157 Synonymous SNV K293K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 243394 chr9 130570947 130570947 G A rs764029343 FPGS Synonymous SNV Q285Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.445 243395 chr19 1825845 1825845 C T rs148840948 REXO1 Nonsynonymous SNV G670D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 28.1 243396 chr17 6913336 6913336 C A rs41359946 ALOX12 Nonsynonymous SNV T568N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.63 243397 chr19 18502875 18502875 G C rs764416810 LRRC25 Synonymous SNV S280S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.073 243398 chr17 6945017 6945017 G A rs765904625 SLC16A11 Nonsynonymous SNV T442I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.584 243399 chr1 2488087 2488087 C T rs200028156 TNFRSF14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.196 243400 chr13 113815282 113815282 T C rs3024723 PROZ Synonymous SNV Y85Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 0.003 243401 chr13 113826164 113826164 G A rs3024774 PROZ Synonymous SNV T316T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 9.413 243402 chr13 113845248 113845248 C A rs61743295 PCID2 Synonymous SNV G135G 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 18.62 243403 chr1 27995030 27995030 C T rs146317021 IFI6 Synonymous SNV S29S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 243404 chr16 111228 111228 G C RHBDF1 Nonsynonymous SNV P483A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.027 243405 chr1 31192149 31192149 G A rs558839274 MATN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.576 243406 chr16 1271955 1271955 G A rs181691054 TPSG1 Nonsynonymous SNV R267C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 243407 chr9 139730277 139730277 G A rs1031701534 RABL6 Synonymous SNV T264T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 243408 chr15 42211680 42211680 G A rs576091991 EHD4 Nonsynonymous SNV R218C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 243409 chr9 140064375 140064375 C T rs573593614 LRRC26 Synonymous SNV S7S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 243410 chr1 204418360 204418360 G A rs756141349 PIK3C2B Nonsynonymous SNV R767C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 243411 chr16 1797122 1797122 C T MAPK8IP3 Synonymous SNV S279S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.63 243412 chr1 40431654 40431654 C T rs754745190 MFSD2A Nonsynonymous SNV H72Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 243413 chr16 1838700 1838700 C T rs71385716 NUBP2 Nonsynonymous SNV R119C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 243414 chr22 39041583 39041583 C T rs368702090 FAM227A Synonymous SNV P70P 0.004 0 0 0 5 0 0 0 0 0 0 0 8.764 243415 chr1 43891151 43891151 G A rs138653257 SZT2 Synonymous SNV S884S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.5 243416 chr1 43900876 43900876 G C rs151260299 SZT2 Synonymous SNV L1913L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 7.782 243417 chr1 43905632 43905632 C T rs761487760 SZT2 Stop gain R2318X 0 0 0.003 0 0 0 0 1 0 0 0 0 47 243418 chr1 44056971 44056971 C T rs556161672 PTPRF Synonymous SNV S426S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 243419 chr15 49170384 49170384 T C rs778966585 EID1 Nonsynonymous SNV M4T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 243420 chr1 44170127 44170127 C A rs1022502089 KDM4A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.298 243421 chr14 24901796 24901796 C T rs145331670 KHNYN Synonymous SNV D484D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.38 243422 chr1 44468029 44468029 G A rs138394765 SLC6A9 Synonymous SNV L241L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 243423 chr3 183493747 183493749 GGA - YEATS2 G814del 0 0.003 0 0 0 1 0 0 0 0 0 0 243424 chr9 22008791 22008791 A C rs544085281 CDKN2B Synonymous SNV A54A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 243425 chr15 56285724 56285724 C T rs371166391 NEDD4 Synonymous SNV G10G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 243426 chr9 2811557 2811557 C T rs2270889 PUM3 Nonsynonymous SNV R480Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 243427 chr15 57744337 57744337 A G rs748292460 CGNL1 0.001 0 0 0 1 0 0 0 0 0 0 0 24 243428 chr22 44221962 44221962 G A rs147048849 SULT4A1 Synonymous SNV T258T 0.004 0 0.003 0 5 0 0 1 0 0 0 0 8.256 243429 chr19 38379879 38379879 C T rs773055198 WDR87 Nonsynonymous SNV E1478K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.902 243430 chr9 34557903 34557903 G A rs78417898 CNTFR Synonymous SNV T133T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.011 243431 chr9 35906544 35906544 - CCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCA HRCT1 H105_P106insHPRHTPHHLHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 243432 chr9 36170121 36170121 C T rs569235631 CCIN Nonsynonymous SNV R208W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 243433 chr9 36170682 36170682 C G rs148954505 CCIN Nonsynonymous SNV R395G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 243434 chr22 46653138 46653138 G A rs776577048 PKDREJ Nonsynonymous SNV R2028W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 243435 chr16 3079305 3079305 C T rs536415472 BICDL2 Synonymous SNV V361V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.42 243436 chr22 46704767 46704767 A C GTSE1 Nonsynonymous SNV K230T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.3 243437 chr19 40225017 40225017 C T rs776652982 CLC Nonsynonymous SNV G70E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.19 243438 chr1 63113884 63113884 T C DOCK7 Nonsynonymous SNV N209D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 243439 chr16 3293438 3293438 C A MEFV Synonymous SNV S683S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.05 243440 chr16 3349365 3349365 T C TIGD7 Nonsynonymous SNV H417R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 243441 chr15 72455986 72455989 CTGT - rs556977354 GRAMD2A D237Vfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 243442 chr14 62551035 62551035 C T rs777540095 SYT16 Nonsynonymous SNV T338M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 243443 chr9 78943111 78943111 C T rs550842839 PCSK5 Nonsynonymous SNV A1482V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 243444 chr22 50944741 50944741 G A rs369957226 LMF2 Nonsynonymous SNV R165C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 243445 chr9 86258398 86258398 G A rs368574543 IDNK Synonymous SNV T89T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 243446 chr15 75499062 75499062 T G rs148131261 C15orf39 Nonsynonymous SNV F225V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 243447 chr9 88203317 88203317 C T AGTPBP1 Synonymous SNV T985T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 243448 chr15 77328269 77328269 C T rs34908107 PSTPIP1 Nonsynonymous SNV T352I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.566 243449 chr15 77906692 77906692 G A rs61737307 LINGO1 Synonymous SNV P519P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.142 243450 chr3 38048121 38048121 T C rs555785707 VILL Nonsynonymous SNV L593P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 243451 chr3 38149077 38149077 A G DLEC1 Nonsynonymous SNV Y956C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 243452 chr15 78782973 78782973 A T rs8032410 IREB2 Nonsynonymous SNV I482F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 243453 chr15 78917573 78917573 T C rs61737502 CHRNB4 Nonsynonymous SNV M467V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.463 243454 chr3 38639246 38639246 C T rs199473582 SCN5A Nonsynonymous SNV E746K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 243455 chr15 80215947 80215947 C G ST20, ST20-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 243456 chrX 100177878 100177878 G A rs778346997 XKRX Nonsynonymous SNV R170C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 243457 chr16 56924267 56924267 C G rs777228913 SLC12A3 Nonsynonymous SNV H789Q 0 0 0 2 0 0 0.005 0 0 0 0 0 11.63 243458 chrX 118920652 118920652 G A rs61733485 RPL39 Synonymous SNV L51L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.56 243459 chr15 89382008 89382008 C A rs200239326 ACAN Nonsynonymous SNV T62N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.8 243460 chr1 9809676 9809676 C T rs35261177 CLSTN1 Synonymous SNV P266P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.75 243461 chr3 45266671 45266671 - GCA TMEM158 A292_V293insA 0 0.003 0 0 0 1 0 0 0 0 0 0 243462 chr16 58752478 58752478 G A GOT2 Nonsynonymous SNV P141S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 243463 chr20 10620230 10620230 T C JAG1 Synonymous SNV T1191T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.013 243464 chrX 135430311 135430311 C A ADGRG4 Synonymous SNV S1482S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 243465 chr15 90245107 90245107 G A rs773430642 WDR93 Nonsynonymous SNV V44M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.655 243466 chr16 698128 698128 C T MCRIP2 Nonsynonymous SNV P55S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 243467 chrX 148582542 148582542 A C rs146846763 IDS Nonsynonymous SNV S149A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.49 243468 chr20 18395036 18395036 T C DZANK1 Nonsynonymous SNV R227G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.146 243469 chrX 153248052 153248052 G A rs141589321 TMEM187 Nonsynonymous SNV R180H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.758 243470 chrX 153696164 153696164 C T rs782762047 PLXNA3 Nonsynonymous SNV R1214W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 243471 chrX 18231907 18231907 C T rs45563640 BEND2 Synonymous SNV T121T 0.002 0 0 0 2 0 0 0 1 0 0 0 10.31 243472 chr15 102194872 102194872 A C TARS3 Nonsynonymous SNV I774M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 243473 chr20 30408119 30408119 C G rs138517155 MYLK2 Nonsynonymous SNV D81E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 243474 chr16 719559 719559 G A rs780236395 RHOT2 Nonsynonymous SNV V77M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 243475 chr16 817463 817463 C T rs150095532 MSLN Nonsynonymous SNV A538V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.16 243476 chr3 53276175 53276175 C T rs141616327 TKT Nonsynonymous SNV R64Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 243477 chrX 41048621 41048621 A G rs761786011 USP9X Synonymous SNV E1290E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.843 243478 chrX 47487668 47487668 C T rs761962858 CFP Nonsynonymous SNV R79Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.794 243479 chrX 50377939 50377939 G A SHROOM4 Synonymous SNV S378S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 243480 chrX 5810949 5810949 G A rs4995611 NLGN4X Nonsynonymous SNV T787M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.77 243481 chr16 84531617 84531617 G A rs141293001 MEAK7 Stop gain Q26X 0 0 0 1 0 0 0.003 0 0 0 0 0 6.494 243482 chr20 39989918 39989918 T G rs199725822 EMILIN3 Nonsynonymous SNV Q764P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 243483 chr20 44587944 44587944 G A rs769795182 ZNF335 Nonsynonymous SNV P717S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 243484 chr10 103826617 103826617 C - HPS6 R463Efs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 243485 chr20 46265008 46265008 C G rs144957405 NCOA3 Synonymous SNV T626T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.909 243486 chr20 47611060 47611060 G C rs149644732 ARFGEF2 Nonsynonymous SNV G1016R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 243487 chr20 47989992 47989992 G A rs144379782 KCNB1 Nonsynonymous SNV A702V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.68 243488 chr19 52825177 52825177 A C rs769271635 ZNF480 Nonsynonymous SNV H182P 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 243489 chr20 48503390 48503390 C T rs375508701 SLC9A8 Synonymous SNV D547D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 243490 chr20 49209710 49209710 C T rs189986569 RIPOR3 Nonsynonymous SNV V746M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 243491 chr10 121586814 121586814 T C rs143001578 INPP5F Nonsynonymous SNV L364P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.146 243492 chr10 121586968 121586968 T A rs139834150 INPP5F Nonsynonymous SNV F415L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.187 243493 chr10 121587250 121587250 A G rs144822204 INPP5F Synonymous SNV K509K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.049 243494 chr16 20826252 20826252 G A rs201728796 REXO5 Stop gain W85X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 243495 chr10 127524762 127524762 G A rs762750322 BCCIP Synonymous SNV T288T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 243496 chr16 50746086 50746086 C T rs61747625 NOD2 Nonsynonymous SNV A728V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.4 243497 chr21 33065686 33065686 A G rs77488564 SCAF4 Synonymous SNV S463S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.49 243498 chr21 34072192 34072192 C T rs151248057 SYNJ1 Synonymous SNV A145A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.29 243499 chr21 35237458 35237458 G A rs750401025 ITSN1 Synonymous SNV A1293A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 243500 chr16 57738918 57738918 G A rs116668060 DRC7 Nonsynonymous SNV R212Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.851 243501 chr21 40550510 40550510 C T rs751864587 PSMG1 Nonsynonymous SNV D153N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 243502 chr19 58850028 58850028 G A rs570677592 ZSCAN22 Nonsynonymous SNV R271H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.914 243503 chr18 31320333 31320333 C G rs190659120 ASXL3 Nonsynonymous SNV R989G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 243504 chr21 45855045 45855045 C T rs143528384 TRPM2 Nonsynonymous SNV R17C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 243505 chr21 46906809 46906809 G A rs1042525677 COL18A1 Nonsynonymous SNV R759H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 243506 chr2 238283464 238283464 G A rs113781746 COL6A3 Synonymous SNV D483D 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.321 243507 chr10 49430452 49430452 T G FRMPD2 Nonsynonymous SNV K429N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.6 243508 chr10 50863191 50863191 T C CHAT Nonsynonymous SNV F444S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 243509 chr15 95001383 95001383 G A MCTP2 Synonymous SNV G701G 0.003 0.008 0 0 3 3 0 0 0 0 0 0 9.311 243510 chr22 21356528 21356528 C G rs541374222 THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.28 243511 chr22 21975957 21975957 A G rs753016215 UBE2L3 Synonymous SNV X123X 0 0 0.003 0 0 0 0 1 0 0 0 0 8.697 243512 chr22 22892726 22892726 C - PRAME K110Rfs*30 0 0 0.003 0 0 0 0 1 0 0 0 0 243513 chr22 24122846 24122846 G A rs767691945 MMP11 Nonsynonymous SNV R187Q 0 0 0.007 0 0 0 0 2 0 0 0 0 32 243514 chr10 61043151 61043151 G A rs147149862 FAM13C Synonymous SNV S188S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.201 243515 chr18 72343285 72343285 G C rs376621360 ZNF407 Nonsynonymous SNV G104R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.782 243516 chr10 64973240 64973240 A G rs779423910 JMJD1C Nonsynonymous SNV L677S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 243517 chr16 331774 331774 G C rs377627632 ARHGDIG Synonymous SNV P34P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.445 243518 chr10 70066533 70066533 A G PBLD Synonymous SNV V23V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.307 243519 chr16 88783494 88783494 G T PIEZO1 Synonymous SNV S2199S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.339 243520 chr2 27261042 27261042 C T rs200292649 TMEM214 Nonsynonymous SNV T349M 0.003 0 0 0 3 0 0 0 0 0 0 0 11.07 243521 chr16 88805055 88805055 G A rs115481622 PIEZO1 Synonymous SNV A185A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 11.11 243522 chr22 30769743 30769743 G C rs376030866 CCDC157 Nonsynonymous SNV R498T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.079 243523 chr2 27430161 27430161 C T rs150524685 SLC5A6 Nonsynonymous SNV V120I 0.003 0 0 0 3 0 0 0 0 0 0 0 2.731 243524 chr17 40822646 40822646 A C PLEKHH3 Nonsynonymous SNV L500R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.3 243525 chr10 75264810 75264810 A G rs1002175236 PPP3CB-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 243526 chr19 1000665 1000665 G A rs144440136 GRIN3B Nonsynonymous SNV A77T 0 0.005 0 1 0 2 0.003 0 0 1 0 0 8.313 243527 chr22 35660775 35660775 G A rs756498233 HMGXB4 Nonsynonymous SNV E23K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.8 243528 chr10 77159777 77159777 G A rs768379247 ZNF503 Nonsynonymous SNV P224L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 243529 chr17 45234412 45234412 A T CDC27 Nonsynonymous SNV S134T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.09 243530 chr17 1538669 1538669 C A SCARF1 Nonsynonymous SNV G626C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 243531 chr16 2287491 2287491 G C rs770170745 DNASE1L2 Synonymous SNV P144P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.29 243532 chr19 1226475 1226475 C T STK11 Synonymous SNV A377A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.32 243533 chr20 30155895 30155895 C T rs766126425 HM13 Nonsynonymous SNV A350V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 243534 chr10 90341967 90341967 T - rs765347248 RNLS K72Nfs*10 0.004 0 0 2 5 0 0.005 0 1 0 0 0 243535 chr10 90341968 90341968 T A rs199960560 RNLS Nonsynonymous SNV K72I 0.004 0 0 2 5 0 0.005 0 1 0 0 0 11.81 243536 chr19 1827132 1827132 G C rs990558690 REXO1 Synonymous SNV S552S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.265 243537 chr17 47230176 47230176 G A rs34942161 B4GALNT2 Nonsynonymous SNV R123H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 243538 chr10 94828322 94828322 C T CYP26C1 Synonymous SNV T479T 0.003 0 0 0 3 0 0 0 0 0 0 0 20.5 243539 chr17 2239698 2239698 - GGGCCGGGGCGGT TSR1 Frameshift insertion L9Pfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 243540 chr17 3195786 3195786 A G rs140478420 OR3A1 Nonsynonymous SNV F31L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 243541 chr10 96540331 96540331 G A rs140278421 CYP2C19 Nonsynonymous SNV R186H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.65 243542 chr1 114267481 114267481 G A rs747286651 PHTF1 Stop gain R175X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 37 243543 chr10 96702036 96702036 G A rs775512303 CYP2C9 Nonsynonymous SNV S140N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 18.19 243544 chr17 48676844 48676844 G A CACNA1G Nonsynonymous SNV S1082N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 243545 chr19 3643375 3643375 C T rs143219762 PIP5K1C Synonymous SNV R505R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.28 243546 chr17 3912990 3912990 C T rs566419498 ZZEF1 Nonsynonymous SNV G2881S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 243547 chr16 8890113 8890113 G T rs202170837 TMEM186 Nonsynonymous SNV A113D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 243548 chr22 47062746 47062746 C T rs375236476 GRAMD4 Synonymous SNV I304I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 243549 chr22 50279086 50279086 G A rs142674632 ZBED4 Synonymous SNV P592P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.699 243550 chr2 71817352 71817352 T C rs749405808 DYSF Nonsynonymous SNV Y1138H 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 28.9 243551 chr2 74881550 74881550 C G SEMA4F Nonsynonymous SNV T16R 0.007 0 0 0 8 0 0 0 0 0 0 0 7.059 243552 chr2 75347803 75347803 G A TACR1 Synonymous SNV L161L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.792 243553 chr17 64800112 64800112 T C rs753589948 PRKCA Nonsynonymous SNV V659A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 243554 chr2 113081960 113081960 A C rs375781985 ZC3H6 Nonsynonymous SNV E524D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 243555 chr2 113500024 113500024 C T NT5DC4 Synonymous SNV I428I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.346 243556 chr17 7480985 7480985 C G rs143683973 EIF4A1 Synonymous SNV T289T 0.002 0 0 0 2 0 0 0 0 0 0 0 12 243557 chr2 113514006 113514006 A C rs747573709 CKAP2L Nonsynonymous SNV N149K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.89 243558 chr2 120003194 120003194 G A rs200164081 STEAP3 Nonsynonymous SNV R41H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 243559 chr11 104762117 104762117 T G rs866320801 CASP12 Synonymous SNV A149A 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.175 243560 chr2 96809677 96809677 C T rs141345431 DUSP2 Nonsynonymous SNV R277H 0.006 0 0 0 7 0 0 0 0 0 0 0 27.5 243561 chr2 128408330 128408330 T A GPR17 Synonymous SNV A7A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.002 243562 chr11 108122729 108122729 T C rs61734356 ATM Synonymous SNV N591N 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign/Likely benign 0.12 243563 chr2 98351075 98351075 A G ZAP70 Nonsynonymous SNV K21E 0.006 0 0 0 7 0 0 0 0 0 0 0 23.5 243564 chr3 108754213 108754213 - TGGCT MORC1 Frameshift insertion M478Kfs*51 0.003 0 0 0 3 0 0 0 0 0 0 0 243565 chr2 152410513 152410513 C T rs182847302 NEB Synonymous SNV K4784K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.47 243566 chr2 153573840 153573840 C A PRPF40A Synonymous SNV S38S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 243567 chr3 113138962 113138962 T C rs757908791 CFAP44 Nonsynonymous SNV I158V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 243568 chr2 160084384 160084384 C T TANC1 Nonsynonymous SNV P1119S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 243569 chr2 166872192 166872192 T C rs765483880 SCN1A Nonsynonymous SNV I1159V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 243570 chr11 123489856 123489856 C T rs148264959 GRAMD1B Nonsynonymous SNV S644F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.8 243571 chr17 29203442 29203442 C T rs145425613 ATAD5 Nonsynonymous SNV P1220S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 243572 chr11 124487360 124487360 A G rs187147069 PANX3 Nonsynonymous SNV Y172C 0.002 0 0 0 2 0 0 0 0 0 0 0 10.36 243573 chr11 124624235 124624235 C T rs116478728 ESAM Synonymous SNV G244G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.799 243574 chr11 124950640 124950640 G A rs34649502 SLC37A2 Nonsynonymous SNV V220I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 243575 chr17 34869230 34869230 G A rs778389089 MYO19 Synonymous SNV D312D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.311 243576 chr2 179495655 179495655 A C TTN Nonsynonymous SNV L5612R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 243577 chr11 125853787 125853787 C T rs148664368 CDON Nonsynonymous SNV R992H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.9 243578 chr17 37809839 37809839 G A rs200603860 STARD3 Nonsynonymous SNV V19M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 243579 chr17 78184916 78184916 A C rs966125156 SGSH Nonsynonymous SNV I340M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.937 243580 chr2 179642420 179642420 A G LOC101927055 0 0 0.003 0 0 0 0 1 0 0 0 0 0.392 243581 chr2 179650715 179650715 C T rs144639994 TTN Nonsynonymous SNV A698T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.634 243582 chr2 179981517 179981517 C A SESTD1 Nonsynonymous SNV A509S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 243583 chr16 87678575 87678575 G A rs375201712 JPH3 Nonsynonymous SNV R365H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 243584 chr2 196723434 196723434 C T rs200187568 DNAH7 Nonsynonymous SNV A2611T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 243585 chr2 201499572 201499572 C T rs201577079 AOX1 Synonymous SNV V760V 0.002 0.005 0.007 0 2 2 0 2 0 0 0 0 17.39 243586 chr18 20606167 20606167 A G rs142117391 RBBP8 Nonsynonymous SNV Q854R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.244 243587 chr11 2185482 2185482 G A rs201219944 TH Nonsynonymous SNV A492V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 26 243588 chr11 27395540 27395540 A C rs370534114 LGR4 Nonsynonymous SNV L388R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 29.8 243589 chr17 46867456 46867457 GA - TTLL6 P106Kfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 243590 chr18 31599530 31599530 T C rs752401674 NOL4 Nonsynonymous SNV T270A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.69 243591 chr2 215910573 215910573 C T rs193145048 ABCA12 Nonsynonymous SNV R287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 243592 chr2 218925526 218925526 G C rs149209947 CXCR2P1 0 0 0.02 0 0 0 0 6 0 0 0 0 0.019 243593 chr2 219411780 219411780 T G USP37 Nonsynonymous SNV D155A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 243594 chr3 182871543 182871543 T C LAMP3 Nonsynonymous SNV Q229R 0.003 0 0 0 4 0 0 0 0 0 0 0 0.03 243595 chr18 45566486 45566486 G A rs73953657 ZBTB7C Synonymous SNV Y331Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.68 243596 chr11 45268002 45268002 C T rs753970325 SYT13 Nonsynonymous SNV R303H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 243597 chr6 1611803 1611811 GGCGGCGGC - rs767238802 FOXC1 G378_G380del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 243598 chr2 228157923 228157923 C T rs200984988 COL4A3 Nonsynonymous SNV P1076L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 243599 chr17 6979294 6979294 C T CLEC10A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.16 243600 chr17 67012505 67012505 A G rs773454569 ABCA9 Synonymous SNV N976N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 243601 chr2 231307780 231307780 G A SP100 Nonsynonymous SNV R54H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 243602 chr17 7231123 7231123 C T rs1009795189 NEURL4 Synonymous SNV T121T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.2 243603 chr17 7293688 7293688 C T rs202149802 TMEM256-PLSCR3 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.35 243604 chr17 72363751 72363751 A C rs375474290 GPR142 Nonsynonymous SNV K36T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 243605 chr17 7909683 7909683 C G GUCY2D Synonymous SNV V343V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.14 243606 chr5 72798811 72798811 C T BTF3 Nonsynonymous SNV A129V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 243607 chr17 8455461 8455461 G A MYH10 Synonymous SNV Y264Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.3 243608 chr1 21186999 21186999 T C rs1023899703 EIF4G3 Synonymous SNV V985V 0 0 0 3 0 0 0.008 0 0 0 0 0 9.622 243609 chr2 241508520 241508520 G A RNPEPL1 Nonsynonymous SNV D173N 0 0 0.007 0 0 0 0 2 0 0 0 0 12.58 243610 chr2 241570294 241570294 G A rs764380323 GPR35 Nonsynonymous SNV A309T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 243611 chr3 38316584 38316584 C T rs762458286 SLC22A13 Nonsynonymous SNV R248C 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 243612 chr3 38359688 38359688 G A rs929538848 SLC22A14 0.003 0 0 0 4 0 0 0 0 0 0 0 3.816 243613 chr2 24260860 24260860 G A rs147244110 WDCP Nonsynonymous SNV P502L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.26 243614 chr19 10395650 10395650 C T rs150121537 ICAM1 Nonsynonymous SNV R458W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.7 243615 chr17 76993562 76993562 G A rs758613354 CANT1 Nonsynonymous SNV T48M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.275 243616 chr3 44346690 44346690 G T TOPAZ1 Nonsynonymous SNV V1306L 0.005 0 0 0 6 0 0 0 0 0 0 0 22.3 243617 chr1 227153013 227153013 - A rs778247643 COQ8A Frameshift insertion H164Qfs*16 0.001 0 0 1 1 0 0.003 0 0 0 0 0 243618 chr2 33045980 33045980 G T rs149074934 TTC27 Nonsynonymous SNV S786I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.14 243619 chr1 228033217 228033217 G A rs61741627 PRSS38 Synonymous SNV L210L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.544 243620 chr1 228285579 228285579 C T rs143463838 ARF1 Synonymous SNV A137A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 243621 chr1 228430966 228430966 C T rs373806868 OBSCN Synonymous SNV C1004C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 8.557 243622 chr1 228492862 228492862 G A rs373209802 OBSCN Nonsynonymous SNV E4769K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.74 243623 chr2 38177585 38177585 G T RMDN2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.77 243624 chr2 42530333 42530333 A G rs764277425 EML4 Synonymous SNV R519R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.892 243625 chr3 48965212 48965212 A T ARIH2 Nonsynonymous SNV N74I 0.003 0 0 0 4 0 0 0 0 0 0 0 19.31 243626 chr17 80887084 80887084 A G rs775950678 TBCD Nonsynonymous SNV H930R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 243627 chr17 31039099 31039099 C T rs147907960 MYO1D Synonymous SNV K676K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.66 243628 chr3 49699836 49699836 C T rs772061633 BSN Nonsynonymous SNV P3520S 0.005 0 0 0 6 0 0 0 0 0 0 0 3.03 243629 chr3 49700581 49700581 C T rs760610824 BSN Nonsynonymous SNV R3664W 0.005 0 0 0 6 0 0 0 0 0 0 0 22.9 243630 chr3 51661631 51661631 C T rs186743098 RAD54L2 Nonsynonymous SNV P68S 0.009 0 0 2 10 0 0.005 0 1 0 0 0 22.9 243631 chr3 51751760 51751760 C T rs61729076 GRM2 Synonymous SNV N446N 0.009 0 0 2 10 0 0.005 0 1 0 0 0 Benign 15.21 243632 chr3 53700373 53700373 A G rs33970402 CACNA1D Synonymous SNV V309V 0.005 0 0 0 6 0 0 0 0 0 0 0 Benign 9.282 243633 chr17 36909492 36909492 G A rs766622126 PSMB3 Synonymous SNV Q31Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.555 243634 chr17 37071324 37071324 G A rs16968526 LASP1 Synonymous SNV V123V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.87 243635 chr2 71778842 71778842 C T rs149386446 DYSF Nonsynonymous SNV R568W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 243636 chr19 19042182 19042182 G A rs58183423 HOMER3 Synonymous SNV R246R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.329 243637 chr19 19042387 19042387 A G rs57792670 HOMER3 Synonymous SNV G210G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.332 243638 chr19 19042805 19042805 C A rs76696102 HOMER3 Nonsynonymous SNV A188S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 243639 chr19 19231965 19231965 A G TMEM161A Nonsynonymous SNV S206P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 243640 chr11 59210646 59210646 C T rs138097107 OR5A1 Nonsynonymous SNV S2F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.911 243641 chr19 19767484 19767484 G A rs61756675 ATP13A1 Synonymous SNV S356S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.161 243642 chr19 19822256 19822256 C A rs557337383 ZNF14 Stop gain E612X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 243643 chr19 19823253 19823253 G A rs61751038 ZNF14 Synonymous SNV Y279Y 0 0 0 2 0 0 0.005 0 0 0 0 0 2.203 243644 chr2 98914484 98914484 C T rs377632797 VWA3B Nonsynonymous SNV P748L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 243645 chr2 99438803 99438803 C A KIAA1211L Nonsynonymous SNV A645S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 243646 chr2 99439533 99439533 C A rs767360786 KIAA1211L Synonymous SNV P401P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.34 243647 chr18 44773782 44773782 C G rs765582228 SKOR2 Synonymous SNV G591G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.578 243648 chr11 610657 610657 C T PHRF1 Synonymous SNV L1525L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.404 243649 chr3 112188649 112188649 T C rs144502753 BTLA Nonsynonymous SNV K136E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.828 243650 chr1 27708311 27708311 G A rs755402984 CD164L2 Nonsynonymous SNV A111V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.99 243651 chr3 113138873 113138873 G A rs141154769 CFAP44 Synonymous SNV G187G 0 0 0.007 0 0 0 0 2 0 0 0 0 13.57 243652 chr3 113672669 113672669 C T rs760179050 ZDHHC23 Nonsynonymous SNV P95L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 243653 chr11 62293096 62293096 G A rs377182257 AHNAK Synonymous SNV D2931D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.53 243654 chr3 121340643 121340643 G A rs34751480 FBXO40 Nonsynonymous SNV E123K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 243655 chr17 47219498 47219498 C T rs781473343 B4GALNT2 Nonsynonymous SNV A106V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.82 243656 chr11 64480502 64480502 G A rs772811573 NRXN2 Nonsynonymous SNV P224S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 12.07 243657 chr3 125898999 125898999 A C ALDH1L1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.971 243658 chr11 64981836 64981836 G C rs753095902 SLC22A20P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.412 243659 chr11 65349036 65349036 C T EHBP1L1 Nonsynonymous SNV T298M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.69 243660 chr11 65387301 65387301 G A rs375121529 PCNX3 Nonsynonymous SNV A636T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.5 243661 chr11 66102377 66102377 G C rs143733163 RIN1 Nonsynonymous SNV P270R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24 243662 chr3 13432720 13432720 T C rs375248021 NUP210 Nonsynonymous SNV N175S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.592 243663 chr1 53723093 53723093 C T rs199523318 LRP8 Synonymous SNV T581T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.93 243664 chr3 151474908 151474908 T A AADACL2 Nonsynonymous SNV D244E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 243665 chr3 15762444 15762444 T C rs372312590 ANKRD28 Nonsynonymous SNV N141S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 243666 chr3 157823519 157823519 T A rs375389609 SHOX2 Nonsynonymous SNV M99L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.64 243667 chr6 43019172 43019172 C T rs151210822 CUL7 Nonsynonymous SNV R340Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 24.8 243668 chr3 179306725 179306725 T G rs368089471 MRPL47 Nonsynonymous SNV K120Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 243669 chr19 6467575 6467575 T C DENND1C Synonymous SNV Q738Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 243670 chr19 4524042 4524042 G A rs922414878 PLIN5 Nonsynonymous SNV T297M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 243671 chr4 2831434 2831434 C T rs114926004 SH3BP2 Synonymous SNV C267C 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.915 243672 chr3 184297617 184297617 T C rs61730730 EPHB3 Synonymous SNV F689F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.431 243673 chr4 3475160 3475160 A T rs778174005 DOK7 Nonsynonymous SNV D43V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 243674 chr4 3494991 3494991 C T rs139468087 DOK7 Synonymous SNV P116P 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.518 243675 chr4 3501991 3501991 C G rs573164406 DOK7 Synonymous SNV P374P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.324 243676 chr4 3502036 3502036 G A rs115742102 DOK7 Synonymous SNV S389S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.084 243677 chr11 821810 821810 G A rs377534825 PNPLA2 Nonsynonymous SNV G124S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 243678 chr4 37650988 37650988 C T rs772433786 RELL1 Nonsynonymous SNV V75I 0.004 0 0 0 5 0 0 0 0 0 0 0 15.22 243679 chr19 4705968 4705968 T A rs368332608 DPP9 Nonsynonymous SNV S110C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 243680 chr19 7975685 7975729 GGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGA - rs751112873 MAP2K7 A225Lfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 243681 chr19 48257888 48257888 G A NOP53 Synonymous SNV Q290Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.633 243682 chr17 79792647 79792647 G C rs372484438 PPP1R27 Nonsynonymous SNV H61Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.306 243683 chr17 79803092 79803092 G A rs142269995 P4HB Synonymous SNV N458N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.761 243684 chr19 48901993 48901993 T C rs757989014 GRIN2D Nonsynonymous SNV V115A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 243685 chr11 93129484 93129484 A T rs12282288 DEUP1 Nonsynonymous SNV E440V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.087 243686 chr20 25456754 25456754 A G rs368559880 NINL Nonsynonymous SNV M1058T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.888 243687 chr3 197518405 197518405 C T rs756042466 LRCH3 Nonsynonymous SNV R86W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 243688 chr3 21448176 21448176 A - VENTXP7 0 0 0.01 0 0 0 0 3 0 0 1 0 243689 chr3 27161285 27161285 G A rs148975819 NEK10 Synonymous SNV S411S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.244 243690 chr19 9066151 9066151 G A rs373449510 MUC16 Synonymous SNV L7099L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.641 243691 chr19 50040387 50040387 G A rs79559204 RCN3 Synonymous SNV S181S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 243692 chr19 9225781 9225781 T G rs144698189 OR7G1 Nonsynonymous SNV Q220P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 243693 chr19 10270557 10270557 G A rs760064256 DNMT1 Synonymous SNV D361D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.27 243694 chr12 108913073 108913073 T C rs148414018 FICD Nonsynonymous SNV Y400H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 243695 chr3 39425233 39425233 T G rs139033679 SLC25A38 Synonymous SNV R6R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.951 243696 chr19 51955840 51955840 A C rs114809409 SIGLEC8 Synonymous SNV P338P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.007 243697 chr19 12766648 12766648 G A MAN2B1 Synonymous SNV L564L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.69 243698 chr12 111078920 111078920 - A TCTN1 Frameshift insertion L358Tfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 243699 chr20 21376674 21376674 C T rs759444663 NKX2-4 Nonsynonymous SNV E314K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.6 243700 chr19 14515351 14515351 C T ADGRE5 Nonsynonymous SNV L443F 0.003 0 0 0 3 0 0 0 0 0 0 0 27.9 243701 chr12 113614644 113614644 C T DDX54 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 243702 chr19 15272172 15272172 C T rs577303432 NOTCH3 Synonymous SNV P2089P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 243703 chr19 53079193 53079193 G A rs200388968 ZNF701 Nonsynonymous SNV E21K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 243704 chr19 17000695 17000695 C A rs556720084 F2RL3 Nonsynonymous SNV R141S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 243705 chr19 54387449 54387449 A G PRKCG Synonymous SNV E79E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.419 243706 chr3 52556203 52556203 G A rs769523493 STAB1 Nonsynonymous SNV R2141H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 243707 chr3 52977413 52977413 A G SFMBT1 Nonsynonymous SNV I107T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 243708 chr3 55717882 55717882 G A rs570345623 ERC2 Synonymous SNV D949D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.549 243709 chr18 60384130 60384130 C T rs778653099 PHLPP1 Nonsynonymous SNV P405L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.3 243710 chr19 17643088 17643088 G A rs140354498 NIBAN3 Nonsynonymous SNV R68H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 243711 chr3 69112637 69112637 A T rs750636724 UBA3 Nonsynonymous SNV C123S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 243712 chr3 73432927 73432927 C T rs201279261 PDZRN3 Synonymous SNV T628T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 243713 chr20 43723614 43723614 G A rs141241786 KCNS1 Nonsynonymous SNV S493L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 243714 chr3 9787381 9787381 G A rs766950626 BRPF1 Nonsynonymous SNV V964M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 243715 chr12 133197918 133197918 T C rs139357505 P2RX2 Nonsynonymous SNV I256T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.1 243716 chr12 133363096 133363096 G A GOLGA3 Synonymous SNV D984D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 6.818 243717 chr20 46318901 46318901 A C rs115048626 SULF2 Nonsynonymous SNV S236A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.31 243718 chr19 758239 758239 C T rs200924033 MISP Synonymous SNV P431P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.06 243719 chr19 32955688 32955688 A G rs200027601 DPY19L3 Nonsynonymous SNV K538E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 243720 chr20 56139224 56139224 G C rs773173117 PCK1 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 243721 chr19 34832554 34832554 G C rs189296760 KIAA0355 Nonsynonymous SNV G572A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.27 243722 chr4 114294537 114294537 G A rs45454496 ANK2 Nonsynonymous SNV E1022K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign/Likely benign 25.4 243723 chr19 2121765 2121765 G A rs370176164 AP3D1 Nonsynonymous SNV R357W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 243724 chr19 36332686 36332686 C A rs138173172 NPHS1 Nonsynonymous SNV A916S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 243725 chr20 60921795 60921795 G A rs142876888 LAMA5 Synonymous SNV R378R 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 6.118 243726 chr19 5923214 5923214 A G rs199908115 RANBP3 Synonymous SNV N327N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.109 243727 chr12 46246255 46246255 G A rs139806958 ARID2 Nonsynonymous SNV G1450E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 26 243728 chr20 61167756 61167756 A G rs377507794 MIR1-1HG Nonsynonymous SNV S76G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.007 243729 chr19 6586260 6586260 G A rs141875251 CD70 Nonsynonymous SNV T118M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.18 243730 chr19 6733292 6733292 G T GPR108 Nonsynonymous SNV N248K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 243731 chr20 61588933 61588933 G A rs780499281 SLC17A9 0.003 0 0 3 3 0 0.008 0 0 0 0 0 25 243732 chr19 38379229 38379229 C T rs188055814 WDR87 Synonymous SNV A1694A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 243733 chr19 7911527 7911527 T C rs923066394 EVI5L Synonymous SNV D33D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.077 243734 chr4 154548781 154548781 C T rs368336070 TMEM131L Synonymous SNV Y1383Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.737 243735 chr7 158664120 158664120 G A rs557538074 WDR60 Synonymous SNV K73K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 13.84 243736 chr19 39018303 39018303 C G RYR1 Nonsynonymous SNV S3563C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 243737 chr4 155467330 155467330 T G rs142024820 PLRG1 Nonsynonymous SNV M108L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 243738 chr19 5238940 5238940 C T rs201769934 PTPRS Synonymous SNV T600T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.13 243739 chr19 40364065 40364065 G A rs140593694 FCGBP Synonymous SNV N4859N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.641 243740 chr19 41066084 41066084 G T rs749766994 SPTBN4 Nonsynonymous SNV G573V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 20.9 243741 chr4 170557102 170557102 A T rs766254279 CLCN3 Nonsynonymous SNV H8L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 243742 chr19 41807593 41807593 G A rs768611706 HNRNPUL1 Synonymous SNV A468A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 243743 chr21 33726303 33726303 C T rs200555493 URB1 Synonymous SNV A785A 0 0 0 3 0 0 0.008 0 0 0 0 0 18.17 243744 chr19 44537116 44537116 G T rs760233440 ZNF222 Nonsynonymous SNV C470F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 243745 chr21 39671666 39671666 C T rs201416013 KCNJ15 Synonymous SNV T161T 0 0 0 3 0 0 0.008 0 0 0 0 0 1.533 243746 chr5 160097491 160097491 G A rs780389036 ATP10B Synonymous SNV V190V 0.005 0 0 0 6 0 0 0 0 0 0 0 6.875 243747 chr19 45321822 45321822 A G rs141978868 BCAM Synonymous SNV L374L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.087 243748 chr5 16783463 16783463 G A rs961927741 MYO10 Stop gain R195X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 243749 chr12 56345847 56345847 T G rs147403326 DGKA Nonsynonymous SNV I185S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 243750 chr19 46328579 46328579 T G rs764395185 SYMPK Synonymous SNV A780A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.384 243751 chr5 176311091 176311091 G A rs114856191 HK3 Synonymous SNV C634C 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 1.184 243752 chr12 57490865 57490865 G A rs143155467 STAT6 Synonymous SNV D627D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.335 243753 chr12 58217439 58217439 C T rs200753070 CTDSP2 Synonymous SNV E254E 0.003 0 0 6 3 0 0.015 0 0 0 0 0 13.93 243754 chr12 64174881 64174881 C T rs141095352 RXYLT1 Synonymous SNV S84S 0.003 0 0 4 3 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.77 243755 chr4 420075 420075 C T rs939575363 ABCA11P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.289 243756 chr7 6621734 6621734 C G ZDHHC4 Synonymous SNV V74V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.54 243757 chr7 6662100 6662100 G T ZNF853 Nonsynonymous SNV G478V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 243758 chr12 68051665 68051665 C T rs368077874 DYRK2 Synonymous SNV R253R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.985 243759 chr4 515739 515739 G C rs188737876 PIGG Synonymous SNV T452T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.313 243760 chr4 54853044 54853044 G C rs144622074 RPL21P44 0 0 0.003 0 0 0 0 1 0 0 0 0 3.754 243761 chr4 55981151 55981151 T C KDR Nonsynonymous SNV K183R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.664 243762 chr19 49714087 49714087 G T TRPM4 Nonsynonymous SNV R796L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 31 243763 chr19 49962317 49962317 C T ALDH16A1 Synonymous SNV G98G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.24 243764 chr19 50358277 50358279 CAC - PTOV1 T168del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 243765 chr4 672487 672487 G A rs777777538 MYL5 Nonsynonymous SNV R15Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 243766 chr22 24095221 24095221 G A rs140601102 VPREB3 Nonsynonymous SNV R72C 0 0 0 3 0 0 0.008 0 0 0 0 0 22.5 243767 chr22 24452804 24452804 A G rs201495297 CABIN1 Nonsynonymous SNV M365V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.412 243768 chr22 24509535 24509535 C T rs367709185 CABIN1 Stop gain R1324X 0 0 0 2 0 0 0.005 0 0 0 0 0 46 243769 chr4 77230751 77230751 G A rs375151280 STBD1 Synonymous SNV V225V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.548 243770 chr4 77660186 77660186 A G SHROOM3 Nonsynonymous SNV D287G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 243771 chr4 8305986 8305986 G A rs367686402 HTRA3 Synonymous SNV A392A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.835 243772 chr4 8469657 8469657 A T TRMT44 Nonsynonymous SNV K263I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 243773 chr13 103443715 103443715 G T rs755219229 POGLUT2 Synonymous SNV S246S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.135 243774 chr4 86893303 86893303 C T rs759553413 ARHGAP24 Synonymous SNV L45L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 243775 chr4 87770067 87770067 T C rs767539347 SLC10A6 Nonsynonymous SNV I68V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 243776 chr13 109831945 109831945 G A rs371399500 MYO16 Synonymous SNV S1793S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.531 243777 chr22 35741754 35741754 G A rs770767021 TOM1 Nonsynonymous SNV E376K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 243778 chr4 90169843 90169843 G C rs144264956 GPRIN3 Nonsynonymous SNV I473M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.851 243779 chr4 94031978 94031978 C T GRID2 Synonymous SNV N108N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 243780 chr13 111642443 111642443 C T rs749262324 LINC00431 0.002 0 0 0 2 0 0 0 0 0 0 0 8.61 243781 chr5 111496598 111496598 G T rs17134162 EPB41L4A-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 6.35 243782 chr1 155264149 155264149 G A rs138476691 PKLR Synonymous SNV D331D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.21 243783 chr19 55594866 55594866 G A rs772550043 EPS8L1 Synonymous SNV Q318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 243784 chr13 23949400 23949400 G A SACS Nonsynonymous SNV P10L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 243785 chr22 39477173 39477173 G T rs151002479 APOBEC3G Nonsynonymous SNV R69L 0 0 0 2 0 0 0.005 0 0 0 0 0 21.6 243786 chr22 39709887 39709887 C G SNORD83B 0 0 0 3 0 0 0.008 0 0 0 0 0 17.72 243787 chr5 121515293 121515293 C T rs10058225 LOC100505841 Nonsynonymous SNV R28C 0.001 0 0.014 0 1 0 0 4 0 0 0 0 17.16 243788 chr22 40082304 40082304 C A CACNA1I Nonsynonymous SNV P2154H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.174 243789 chr22 41573908 41573908 C T rs377556812 EP300 Synonymous SNV L2039L 0 0 0 3 0 0 0.008 0 0 0 0 0 6.768 243790 chr1 156918209 156918209 G A rs962497593 ARHGEF11 Synonymous SNV N629N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.536 243791 chr5 131978052 131978052 A G rs758732036 RAD50 Nonsynonymous SNV H1312R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 243792 chr19 56467345 56467345 G T rs765601672 NLRP8 Stop gain E641X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 243793 chr22 44287073 44287073 G A rs191810922 PNPLA5 Stop gain Q99X 0 0 0 3 0 0 0.008 0 0 0 0 0 27.2 243794 chr19 38931453 38931453 C T rs150794120 RYR1 Synonymous SNV A38A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.86 243795 chr5 140237297 140237297 T C rs781941638 PCDHA10 Nonsynonymous SNV L555P 0 0 0.003 0 0 0 0 1 0 0 0 0 25 243796 chr1 163044231 163044231 C T rs990630119 RGS4 Nonsynonymous SNV R149C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 243797 chrX 147743594 147743594 C T AFF2 Nonsynonymous SNV P112S 0 0.003 0 3 0 1 0.008 0 0 0 0 1 19.59 243798 chr20 334026 334026 C T rs372170951 NRSN2 Nonsynonymous SNV A121V 0.003 0 0 0 4 0 0 0 0 0 0 0 4.02 243799 chr2 105859369 105859369 C A GPR45 Synonymous SNV R352R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 243800 chr5 147861098 147861098 - T rs770443161 HTR4 Frameshift insertion A391Sfs*6 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 243801 chr19 42794426 42794426 C T rs144699696 CIC Synonymous SNV S502S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.56 243802 chr1 985923 985923 G A rs551658645 AGRN Nonsynonymous SNV R1698H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 243803 chr20 4864428 4864428 G A SLC23A2 Synonymous SNV V228V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 243804 chr2 122522793 122522793 C T TSN Synonymous SNV S179S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.64 243805 chr19 47548597 47548597 G A rs142357211 NPAS1 Synonymous SNV P487P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 8.863 243806 chr1 186034371 186034371 G T rs41317479 HMCN1 Synonymous SNV G2505G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.96 243807 chr14 21552151 21552151 G A rs143693692 ARHGEF40 Nonsynonymous SNV R530Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.2 243808 chr19 47969604 47969604 G A rs373604353 SLC8A2 Synonymous SNV S19S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 9.511 243809 chr5 176764523 176764523 G A rs140530570 LMAN2 Synonymous SNV R172R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.35 243810 chr20 31996632 31996632 A G rs772600822 SNTA1 Nonsynonymous SNV W434R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 17.81 243811 chr20 36766580 36766580 T C rs772974736 TGM2 Nonsynonymous SNV N436S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.9 243812 chr8 43047493 43047493 A G rs371469177 HGSNAT Nonsynonymous SNV N369D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 21.9 243813 chr1 201190774 201190774 G A rs145906767 IGFN1 Synonymous SNV R3367R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.332 243814 chr1 201194958 201194958 C T rs375512984 IGFN1 Nonsynonymous SNV P3498L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.7 243815 chr2 164466173 164466173 G A rs3748918 FIGN Synonymous SNV P712P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.71 243816 chr5 35705911 35705911 G A SPEF2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 243817 chr20 49492562 49492562 G A rs7273412 BCAS4 Nonsynonymous SNV R173H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.096 243818 chr5 36105254 36105254 C T rs139248479 LMBRD2 Nonsynonymous SNV R648Q 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 24.7 243819 chr19 50763923 50763923 A G rs562423876 MYH14 Nonsynonymous SNV N751S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.32 243820 chr14 31771575 31771575 G A rs750591092 HEATR5A Nonsynonymous SNV A1797V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.82 243821 chr5 39153643 39153643 G A rs746531540 FYB1 Nonsynonymous SNV P410L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 243822 chr1 207195568 207195568 A G rs11799966 C1orf116 Nonsynonymous SNV F268S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 243823 chr20 58564164 58564164 G A rs756230761 CDH26 Nonsynonymous SNV R410K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 243824 chr2 176995145 176995145 - GCGGCG HOXD8 A23_G24insAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 243825 chr6 26406320 26406320 G A rs150905778 BTN3A1 Nonsynonymous SNV S90N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.691 243826 chr14 52167865 52167865 C T rs773843809 FRMD6 Synonymous SNV Y94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 243827 chr5 58285727 58285727 G C rs761671224 PDE4D Nonsynonymous SNV T212R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 243828 chr1 26299205 26299205 T C rs763394415 PAFAH2 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 243829 chr1 212216434 212216434 C T rs566858701 DTL Nonsynonymous SNV P51L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 243830 chr5 65349678 65349678 T A rs202028376 ERBIN Synonymous SNV S844S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 243831 chr20 61442850 61442850 G C OGFR Nonsynonymous SNV V168L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 243832 chr5 66480095 66480095 G A rs201705119 CD180 Synonymous SNV D192D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 243833 chr20 61524300 61524300 C T rs201837878 DIDO1 Nonsynonymous SNV R1039H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 243834 chr1 215802311 215802311 A G rs111033402 USH2A Nonsynonymous SNV C5122R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 10.28 243835 chr1 27685045 27685045 C T MAP3K6 Nonsynonymous SNV A873T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 243836 chr5 76344782 76344782 T A AGGF1 Synonymous SNV T445T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 243837 chr19 53741393 53741393 T C ZNF677 Nonsynonymous SNV Q196R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.862 243838 chr2 186658806 186658806 T A rs761208103 FSIP2 Nonsynonymous SNV S2315T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.132 243839 chr21 28217246 28217246 C T ADAMTS1 Nonsynonymous SNV G10R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.149 243840 chr1 224377388 224377388 G T rs759581225 DEGS1 Nonsynonymous SNV L64F 0 0 0 1 0 0 0.003 0 0 0 0 0 15 243841 chr9 35906601 35906601 - CCACCACACCCCTCACCACACCCCTCACCACCACCA HRCT1 H107_R108insHTPHHTPHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 243842 chr1 40775610 40775610 C T rs746692571 COL9A2 Synonymous SNV E282E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.2 243843 chr5 98208216 98208216 T C CHD1 Synonymous SNV S1205S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.001 243844 chr1 228328023 228328023 C G rs956279669 GUK1 Nonsynonymous SNV A7G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 243845 chr2 204034484 204034484 A G NBEAL1 Nonsynonymous SNV I1975M 0 0 0 3 0 0 0.008 0 0 0 0 0 22.4 243846 chr1 46501062 46501062 A G rs202151517 MAST2 Nonsynonymous SNV E1573G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.654 243847 chr1 52823573 52823573 G C rs139282085 CC2D1B Nonsynonymous SNV Q493E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.08 243848 chr1 52870547 52870547 T C rs142380332 PRPF38A Synonymous SNV L42L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.06 243849 chr1 54060107 54060107 A G rs34961060 GLIS1 Nonsynonymous SNV F157L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.29 243850 chr6 133076999 133076999 C T rs142626186 VNN2 Nonsynonymous SNV V174M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 243851 chr21 47966924 47966924 G A rs765372886 DIP2A Nonsynonymous SNV V788M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 243852 chr15 33446078 33446078 C T FMN1 Synonymous SNV T346T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.49 243853 chr1 76216186 76216186 C T rs17097429 ACADM Synonymous SNV T111T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.4 243854 chr1 76345810 76345810 T C rs560549914 MSH4 Synonymous SNV L585L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.604 243855 chr6 158924019 158924019 C G rs774051910 TULP4 Synonymous SNV P1108P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 243856 chr1 86172151 86172151 A G ZNHIT6 Synonymous SNV C232C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.289 243857 chr22 26830424 26830424 G A rs139661732 ASPHD2 Synonymous SNV T281T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 243858 chr6 160448262 160448262 G A rs8191753 IGF2R Nonsynonymous SNV G231D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 243859 chr6 160888608 160888608 T A rs16891631 LPAL2 0 0 0.003 0 0 0 0 1 0 0 0 0 4.361 243860 chr9 15172088 15172088 A C TTC39B Nonsynonymous SNV S591A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 243861 chr2 234754456 234754456 G A rs570419914 HJURP Nonsynonymous SNV P84L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 243862 chr6 168842110 168842110 C G rs553730194 SMOC2 Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 243863 chr6 170667322 170667322 G A rs150094606 FAM120B Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 243864 chr20 17511900 17511900 G C rs768926369 BFSP1 Synonymous SNV A25A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.24 243865 chr15 45814546 45814546 C T rs777800512 SLC30A4 Nonsynonymous SNV G3S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 243866 chr22 38643800 38643800 C T rs35589210 TMEM184B Synonymous SNV T56T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.37 243867 chr22 42463261 42463261 C T rs749506008 NAGA Nonsynonymous SNV A120T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.6 243868 chr6 26370752 26370752 C T rs559179512 BTN3A2 Synonymous SNV G212G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 243869 chr1 109806738 109806738 A C rs377023561 CELSR2 Synonymous SNV T1680T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.031 243870 chr1 40092671 40092671 C T rs41264503 HEYL Synonymous SNV T165T 0 0 0.007 2 0 0 0.005 2 0 0 0 0 11.1 243871 chr6 28121641 28121641 A G rs767307348 ZKSCAN8 Nonsynonymous SNV N341S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.642 243872 chr15 64701926 64701926 A G rs534991947 TRIP4 Synonymous SNV R84R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.351 243873 chr6 33555183 33555183 T C rs146778888 LINC00336 0 0 0.01 0 0 0 0 3 0 0 0 0 0.538 243874 chr15 64972469 64972469 C T ZNF609 Synonymous SNV S1285S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.21 243875 chr6 34512084 34512084 G A rs747037762 SPDEF Nonsynonymous SNV T50M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 243876 chr15 71302212 71302212 C T rs148375487 LRRC49 Nonsynonymous SNV R497C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 243877 chr9 89561231 89561231 - CGC rs529361078 GAS1 G154_A155insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 243878 chr9 91628367 91628367 G C SHC3 Nonsynonymous SNV Q594E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.727 243879 chr6 43029309 43029309 A T rs138990023 KLC4 Nonsynonymous SNV E79V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 243880 chr15 77473531 77473531 C T rs55741944 PEAK1 Synonymous SNV E246E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.902 243881 chr2 43991404 43991404 C A PLEKHH2 Nonsynonymous SNV T1399N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 243882 chrX 25031554 25031554 C A rs748764628 ARX Synonymous SNV P186P 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 16.47 243883 chr6 56879996 56879996 G C BEND6 Nonsynonymous SNV G122R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 243884 chr7 149522894 149522894 C T rs202198776 SSPO 0.004 0.003 0 0 5 1 0 0 1 0 0 0 19.8 243885 chr2 74044086 74044086 G A rs766473401 C2orf78 Nonsynonymous SNV M912I 0 0 0 3 0 0 0.008 0 0 0 0 0 20.8 243886 chrX 117742311 117742311 T A rs144182048 DOCK11 Nonsynonymous SNV L957M 0.004 0 0 0 5 0 0 0 1 0 0 0 13.32 243887 chr15 90610535 90610535 A G rs148835918 ZNF710 Nonsynonymous SNV M56V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.001 243888 chr6 90371159 90371159 C G MDN1 Nonsynonymous SNV E4902Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 243889 chr15 90768544 90768544 T A rs200485188 SEMA4B Nonsynonymous SNV V341E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 243890 chr15 90784473 90784473 C T rs143711779 GDPGP1 Synonymous SNV T111T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.877 243891 chr20 62560854 62560854 C T rs776598152 DNAJC5 Synonymous SNV F99F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.27 243892 chrX 135313744 135313744 T C rs769399621 MAP7D3 Nonsynonymous SNV M423V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 243893 chr7 100028310 100028310 G A MEPCE Synonymous SNV G223G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.719 243894 chr1 84878130 84878130 G A DNASE2B Nonsynonymous SNV A8T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.651 243895 chr16 10855255 10855255 A T rs765734724 NUBP1 Nonsynonymous SNV N203I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 243896 chr7 158109594 158109594 G A rs753877997 PTPRN2 Nonsynonymous SNV P48L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.9 243897 chrX 47308368 47308368 C T rs370856827 ZNF41 Synonymous SNV E181E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.482 243898 chr1 89582680 89582680 C T GBP2 Nonsynonymous SNV G288E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 243899 chrX 154159447 154159447 C T F8 Nonsynonymous SNV G873D 0.003 0 0 0 3 0 0 0 1 0 0 0 0.002 243900 chr1 89735081 89735081 T A rs61732483 GBP5 Nonsynonymous SNV Y53F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.5 243901 chr21 37665675 37665675 C T rs368780975 DOP1B Nonsynonymous SNV H2235Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.84 243902 chr1 1223108 1223108 G A rs138787219 SCNN1D Synonymous SNV T485T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.902 243903 chr10 24809137 24809137 G T rs755318277 KIAA1217 Nonsynonymous SNV A438S 0 0.005 0 0 0 2 0 0 0 0 0 0 26.2 243904 chr1 177899699 177899699 T C rs77277070 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV N690S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 26.6 243905 chrX 83128911 83128911 G C rs12008888 CYLC1 Nonsynonymous SNV D399H 0.003 0.003 0 1 3 1 0.003 0 1 0 0 0 7.929 243906 chrX 83591879 83591879 T C rs77791258 HDX Nonsynonymous SNV N499S 0.002 0.003 0 1 2 1 0.003 0 1 0 0 0 0.002 243907 chr16 1838934 1838934 G A rs1025979600 NUBP2 Nonsynonymous SNV V197M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.219 243908 chr1 3413673 3413673 G A rs75138604 MEGF6 Synonymous SNV P1164P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.208 243909 chr10 102676822 102676822 C T rs147132029 SLF2 Nonsynonymous SNV P227L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.35 243910 chr7 107323677 107323677 G A rs138462416 SLC26A4 Nonsynonymous SNV D266N 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.916 243911 chr7 107566658 107566658 A G rs369476969 LAMB1 Synonymous SNV T1678T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.07 243912 chr7 107664505 107664505 T - rs568834649 LAMB4 K1755Nfs*11 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 243913 chr21 45750579 45750611 GGCCCTGTGAGGCTCCATGCTCCCTCCCCACGG - rs770389083 CFAP410 P245_G255del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 243914 chr1 186135999 186135999 A G rs201241621 HMCN1 Nonsynonymous SNV T5167A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 243915 chr7 42977137 42977137 C T rs142529352 MRPL32 Stop gain R177X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 43 243916 chr1 9803994 9803994 G A rs141634052 CLSTN1 Nonsynonymous SNV P425L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 243917 chr7 44611209 44611209 G A rs766456412 DDX56 Nonsynonymous SNV R258W 0.004 0 0 1 5 0 0.003 0 0 0 0 0 34 243918 chr7 123236475 123236475 C T rs185248872 NDUFA5 Nonsynonymous SNV V6I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 4.573 243919 chr1 201165085 201165085 C T IGFN1 Synonymous SNV G82G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.66 243920 chr7 12680036 12680036 T G rs186847510 SCIN Nonsynonymous SNV I245S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 243921 chr7 128446757 128446757 C T rs763374154 CCDC136 Synonymous SNV L422L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 243922 chr16 3021896 3021896 G A rs142699591 PAQR4 Nonsynonymous SNV G183S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 243923 chr7 132070051 132070051 G T rs767146699 PLXNA4 Nonsynonymous SNV P459T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.12 243924 chr20 25485580 25485580 C G rs117522200 NINL Nonsynonymous SNV E218Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.225 243925 chr7 138239470 138239470 G A rs768095910 TRIM24 Nonsynonymous SNV S430N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 243926 chr10 123845452 123845452 C T TACC2 Nonsynonymous SNV A1146V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 22 243927 chr10 124050604 124050604 C T rs141937724 BTBD16 Nonsynonymous SNV T163M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.82 243928 chr3 138189719 138189719 G C rs199856688 ESYT3 Nonsynonymous SNV V531L 0 0 0 3 0 0 0.008 0 0 0 0 0 26.5 243929 chr10 127456130 127456130 T C rs142532761 MMP21 Nonsynonymous SNV K461E 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.091 243930 chr16 50259112 50259112 G A rs781627663 TENT4B Synonymous SNV S572S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.47 243931 chr7 148767621 148767621 G A ZNF786 Nonsynonymous SNV A748V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 243932 chr22 31011644 31011644 G T rs61748898 TCN2 Synonymous SNV A270A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.641 243933 chr7 150174628 150174628 C T rs73726142 GIMAP8 Synonymous SNV A586A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.47 243934 chr1 27023653 27023653 C G rs747694475 ARID1A Synonymous SNV P253P 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 7.405 243935 chr7 155503926 155503926 G A rs369707880 RBM33 Synonymous SNV P326P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 243936 chr1 226346915 226346915 C T rs180969293 ACBD3 Synonymous SNV Q291Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.62 243937 chr7 1590591 1590591 C T rs140383367 TMEM184A Nonsynonymous SNV V83M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 243938 chr10 21177128 21177128 G C rs147622517 NEBL Stop gain Y89X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 243939 chr20 57042171 57042171 C G rs148291923 APCDD1L Nonsynonymous SNV Q244H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 243940 chr1 231004138 231004138 T C rs369977427 C1orf198 Nonsynonymous SNV R41G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 243941 chr22 41513420 41513420 C T rs138876937 EP300 Synonymous SNV A108A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 13.61 243942 chr3 187416468 187416468 T A RTP2 Stop gain K166X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 243943 chr1 233353810 233353810 G A PCNX2 Synonymous SNV L875L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.33 243944 chr10 34558646 34558646 T C rs552137828 PARD3 Nonsynonymous SNV M1011V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.564 243945 chr16 75258767 75258767 C A rs933448450 CTRB1 Nonsynonymous SNV P221T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.112 243946 chr1 236914853 236914853 C T rs3738546 ACTN2 Synonymous SNV N580N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.82 243947 chr7 33380507 33380507 A G BBS9 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 243948 chr7 47336711 47336711 G A rs765369218 TNS3 Synonymous SNV P1215P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.375 243949 chr16 84209747 84209747 G A rs773443425 DNAAF1 Nonsynonymous SNV R400Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.006 243950 chr3 36880144 36880144 C A rs752191682 TRANK1 Nonsynonymous SNV D1738Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.441 243951 chr16 846824 846824 G A rs199791627 CHTF18 Nonsynonymous SNV R855Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 243952 chr7 51261195 51261195 G T COBL Nonsynonymous SNV Q113K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 243953 chr3 38406756 38406756 C T rs939020492 XYLB Nonsynonymous SNV R120W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 243954 chr10 60549508 60549508 C G rs776671241 BICC1 Nonsynonymous SNV Q288E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.3 243955 chr3 38651415 38651415 C T rs45453395 SCN5A Synonymous SNV K248K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.18 243956 chr3 38968409 38968409 - AGTGAAGA rs780673867 SCN11A Frameshift insertion G168Sfs*11 0 0 0.003 1 0 0 0.003 1 0 0 0 0 243957 chr1 54704725 54704725 G A rs779503595 SSBP3-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.81 243958 chr10 63957788 63957788 A C RTKN2 Stop gain L570X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 35 243959 chr7 5792585 5792585 G C RNF216 Synonymous SNV P31P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.54 243960 chr3 41860954 41860954 C G rs969183936 ULK4 Nonsynonymous SNV L301F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.11 243961 chr3 42735114 42735114 T C rs913859313 HHATL Nonsynonymous SNV I415V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.986 243962 chr3 43122561 43122561 G A rs200345083 POMGNT2 Synonymous SNV T121T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.509 243963 chr7 75211420 75211420 G A rs781942028 HIP1 Synonymous SNV D171D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 243964 chr2 20162080 20162080 G A rs142103808 WDR35 Synonymous SNV N401N 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.61 243965 chr10 75286478 75286478 C T rs376148269 USP54 Synonymous SNV S650S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.7 243966 chr3 47079245 47079245 T C rs76132393 SETD2 Nonsynonymous SNV T2377A 0 0 0 3 0 0 0.008 0 0 0 0 0 23.5 243967 chr10 7771927 7771927 T G rs1052321397 ITIH2 Nonsynonymous SNV L431R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 243968 chr10 81917424 81917424 G A ANXA11 Synonymous SNV Y477Y 0.003 0.005 0 0 3 2 0 0 0 0 0 0 11.08 243969 chr21 44299594 44299594 - GAGCCCGCCATGTAC WDR4 S4_V5insYMAGS 0 0 0 1 0 0 0.003 0 0 0 0 0 243970 chr3 49394921 49394921 G A rs752729622 GPX1 Nonsynonymous SNV P125L 0 0 0 3 0 0 0.008 0 0 0 0 0 19.83 243971 chr10 90580002 90580002 G T LIPM Nonsynonymous SNV R339M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.58 243972 chr1 86820474 86820474 C T rs113495905 ODF2L Synonymous SNV K447K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 243973 chr10 93260327 93260327 G A rs114532589 HECTD2 Synonymous SNV Q566Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.388 243974 chr3 52662918 52662918 C T rs745324755 PBRM1 Nonsynonymous SNV V479I 0 0 0 2 0 0 0.005 0 0 0 0 0 15.65 243975 chr21 47676721 47676721 A C MCM3AP Nonsynonymous SNV L1305W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 243976 chr10 101989194 101989194 G A rs778234451 CHUK Synonymous SNV Y32Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.455 243977 chr3 66436685 66436685 G T rs149185220 LRIG1 Synonymous SNV T503T 0 0 0 3 0 0 0.008 0 0 0 0 0 0.148 243978 chr3 8665254 8665254 C G rs149593163 SSUH2 Nonsynonymous SNV R321P 0 0 0.003 3 0 0 0.008 1 0 0 0 0 23.4 243979 chr1 113058826 113058826 C T rs116923670 WNT2B Synonymous SNV R64R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 243980 chr8 125384256 125384256 G C TMEM65 Nonsynonymous SNV P48R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 243981 chr17 30611721 30611721 G A rs201683603 RHBDL3 Nonsynonymous SNV R52Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23 243982 chr22 24483468 24483468 C A rs138002515 CABIN1 Synonymous SNV S1059S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.41 243983 chr8 69009302 69009302 C G rs200498074 PREX2 Nonsynonymous SNV H807D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 243984 chr11 1102138 1102138 G A MUC2 Nonsynonymous SNV D2592N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.315 243985 chr11 18741265 18741265 C A rs372001002 IGSF22 Stop gain E232X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 243986 chr8 144732063 144732063 T G rs914199511 ZNF623 Synonymous SNV V7V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 243987 chr4 122735043 122735043 A C rs533678536 EXOSC9 Nonsynonymous SNV T333P 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 19.62 243988 chr8 144996423 144996423 G A rs372843420 PLEC Synonymous SNV D2508D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.295 243989 chr8 145697763 145697763 C G rs755184983 KIFC2 Nonsynonymous SNV P543A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 243990 chr22 40140015 40140015 G T ENTHD1 Nonsynonymous SNV S498Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 243991 chr11 119052986 119052986 T C rs1041102933 NLRX1 Synonymous SNV G846G 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 6.319 243992 chr11 119181086 119181086 G A MCAM Synonymous SNV S628S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.57 243993 chr9 109690863 109690863 A C ZNF462 Nonsynonymous SNV D1557A 0.004 0 0 0 5 0 0 0 0 0 0 0 24.7 243994 chr17 39616453 39616453 G A rs146527191 KRT32 Nonsynonymous SNV T419I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.836 243995 chr8 22273369 22273369 G A rs111637707 SLC39A14 Nonsynonymous SNV G280R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 243996 chr2 167138314 167138314 G A rs200965749 SCN9A Nonsynonymous SNV T660M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.34 243997 chr11 133795685 133795685 G A rs371970596 IGSF9B Synonymous SNV D661D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.623 243998 chr11 1605979 1605979 A G rs59646474 KRTAP5-1 Synonymous SNV C167C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.008 243999 chr4 2709933 2709933 A G rs1013934189 FAM193A Nonsynonymous SNV N1187S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 244000 chr4 3076606 3076606 - CAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 244001 chr8 68102960 68102960 A G rs201629827 CSPP1 Nonsynonymous SNV E749G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28 244002 chr1 181767495 181767495 G A rs373527839 CACNA1E Nonsynonymous SNV R2094H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 244003 chr2 179438501 179438501 G A rs372309164 TTN Nonsynonymous SNV L15055F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.65 244004 chr2 179578780 179578780 C T rs375373507 TTN Nonsynonymous SNV E7625K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.3 244005 chr10 70451273 70451273 G A TET1 Nonsynonymous SNV R2038H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 244006 chr2 120439283 120439283 G A rs149638082 TMEM177 Nonsynonymous SNV R285Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26 244007 chr2 179654748 179654748 C T rs150231219 TTN Nonsynonymous SNV G586D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.85 244008 chr8 94935193 94935193 C T rs138488258 PDP1 Synonymous SNV D302D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 10.65 244009 chr17 59469432 59469432 G A rs143232884 BCAS3 Synonymous SNV P896P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.686 244010 chr17 59477672 59477672 C G TBX2 Synonymous SNV P45P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.402 244011 chr9 101832066 101832066 G A rs541907574 COL15A1 Synonymous SNV P1355P 0 0 0.003 0 0 0 0 1 0 0 0 0 12 244012 chr2 136627915 136627915 A G rs756125742 MCM6 Nonsynonymous SNV C91R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 244013 chr4 57861004 57861004 G C rs201474145 POLR2B Nonsynonymous SNV G108A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 244014 chr10 75560196 75560196 C T rs545207774 ZSWIM8 Synonymous SNV H1659H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.255 244015 chr11 34219014 34219014 G A rs747631967 ABTB2 Nonsynonymous SNV R368C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 244016 chr2 201334715 201334715 G A rs34526345 SPATS2L Nonsynonymous SNV A277T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.29 244017 chr2 201354955 201354955 C G rs16833583 KCTD18 Synonymous SNV P383P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.355 244018 chr9 112900782 112900782 A G rs746629234 PALM2-AKAP2 Synonymous SNV P844P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.172 244019 chr2 202899375 202899375 G A rs61754568 FZD7 Nonsynonymous SNV R2Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 244020 chr2 160194061 160194061 A G rs201605818 BAZ2B Synonymous SNV L1839L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.35 244021 chr9 114904748 114904748 T C rs777201300 SUSD1 Synonymous SNV P186P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.787 244022 chr10 90591737 90591737 C T rs559515763 ANKRD22 Nonsynonymous SNV R23Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 244023 chr10 90694822 90694822 C T rs367977687 ACTA2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.916 244024 chr17 71348657 71348657 C T rs772978916 SDK2 Nonsynonymous SNV D1905N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 244025 chr10 93812005 93812005 G A rs144703731 CPEB3 Synonymous SNV G673G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.044 244026 chr17 72324624 72324624 G A rs753949157 KIF19 Nonsynonymous SNV A34T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.4 244027 chr10 95418703 95418703 G A rs150112560 PDE6C Nonsynonymous SNV M694I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.6 244028 chr10 96979656 96979656 C G ACSM6 Synonymous SNV L376L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 244029 chr9 123936008 123936008 G C rs764334541 CNTRL Nonsynonymous SNV R1648P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 244030 chr17 73234428 73234428 C - GGA3 E580Sfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 244031 chr17 73234431 73234431 C G GGA3 Nonsynonymous SNV G579R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 244032 chr2 171573566 171573566 C T rs774320324 SP5 Synonymous SNV G283G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.28 244033 chr17 73499062 73499062 T A rs372520423 CASKIN2 Nonsynonymous SNV Q616L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 244034 chr10 98945347 98945347 G A SLIT1 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.832 244035 chr4 8295820 8295820 G A rs200313791 HTRA3 Nonsynonymous SNV E315K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 244036 chr10 99350119 99350119 A G C10orf62 Synonymous SNV S155S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.158 244037 chr9 126129531 126129531 C T rs562401090 CRB2 Nonsynonymous SNV R279C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 244038 chr17 74005078 74005078 C T rs761584250 EVPL Nonsynonymous SNV R1425H 0.003 0 0 0 3 0 0 0 0 0 0 0 31 244039 chr2 182468732 182468732 G A rs149078111 CERKL Nonsynonymous SNV R105W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 244040 chr17 74721657 74721657 T C JMJD6 Nonsynonymous SNV Y137C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 244041 chr11 6007383 6007383 C T rs749536395 OR52L1 Nonsynonymous SNV G260S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 244042 chr2 230312210 230312210 C T rs140453968 DNER Synonymous SNV S436S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.08 244043 chr5 113831756 113831756 C T rs80303410 KCNN2 Synonymous SNV F191F 0 0 0 2 0 0 0.005 0 0 0 0 0 8.67 244044 chr11 108382464 108382464 G A rs575650631 EXPH5 Nonsynonymous SNV P1069L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 27.8 244045 chr11 6415712 6415712 C T rs375570126 SMPD1 Nonsynonymous SNV R547C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 244046 chr9 140129170 140129170 T G SLC34A3 Nonsynonymous SNV L441R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 244047 chr2 210787063 210787063 G A rs1051195562 UNC80 Nonsynonymous SNV R1807H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.2 244048 chr2 242758174 242758174 T C NEU4 Nonsynonymous SNV Y432H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 244049 chrX 134426270 134426270 G A rs144267096 ZNF75D Nonsynonymous SNV R181W 0.008 0.003 0 1 9 1 0.003 0 3 0 0 0 15.35 244050 chr11 56310573 56310573 C T rs774371020 OR5M11 Nonsynonymous SNV R54H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.11 244051 chr9 21481503 21481503 T G rs755808208 IFNE Nonsynonymous SNV Q64P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 244052 chr9 32488009 32488009 C T rs151092988 DDX58 Synonymous SNV P382P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.06 244053 chr9 34241456 34241456 C G UBAP1 Nonsynonymous SNV L209V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 244054 chr3 12950807 12950807 C T rs141751322 IQSEC1 Synonymous SNV A848A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.46 244055 chr3 14183242 14183242 C G rs193922706 TMEM43 Nonsynonymous SNV L384V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.198 244056 chr9 5919697 5919697 C G rs980393738 KIAA2026 Nonsynonymous SNV R2100T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.433 244057 chr5 141050159 141050159 C A rs374649374 ARAP3 Nonsynonymous SNV R676L 0 0 0 3 0 0 0.008 0 0 0 0 0 24.3 244058 chr9 79319711 79319711 A G PRUNE2 Synonymous SNV D2493D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.09 244059 chr3 38417645 38417645 A G rs2234622 XYLB Nonsynonymous SNV N211D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.015 244060 chr9 79323853 79323853 C T rs200875180 PRUNE2 Nonsynonymous SNV D1113N 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 244061 chr9 89699065 89699065 G A rs558790762 LOC494127 0 0 0.003 0 0 0 0 1 0 0 0 0 5.483 244062 chr11 61547004 61547004 G A rs370427239 MYRF Nonsynonymous SNV V737I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 244063 chr9 94486299 94486299 G T ROR2 Nonsynonymous SNV P826Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 244064 chr9 97522436 97522436 G A rs779855707 AOPEP Nonsynonymous SNV G124E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.345 244065 chr2 239009232 239009232 C T rs752090591 ESPNL Nonsynonymous SNV R58W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 244066 chr10 105495491 105495491 C T rs143409187 SH3PXD2A Nonsynonymous SNV R102Q 0.006 0 0 3 7 0 0.008 0 0 0 0 0 35 244067 chr2 239072916 239072916 G C rs139530631 ERFE Nonsynonymous SNV G268R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.352 244068 chrX 133680693 133680693 T C MIR424 0 0 0.007 0 0 0 0 2 0 0 1 0 22.8 244069 chr2 24929985 24929985 A G rs541293975 NCOA1 Nonsynonymous SNV N549S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.447 244070 chr3 51743096 51743096 G A rs200623206 GRM2 Nonsynonymous SNV V33M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.1 244071 chrX 32613958 32613958 C A rs755456119 DMD Nonsynonymous SNV R498S 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 24 244072 chr3 52255618 52255618 C T rs376675219 TLR9 Nonsynonymous SNV R905H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 244073 chrX 49127168 49127168 G A rs782769164 PPP1R3F Nonsynonymous SNV R279H 0 0 0.007 0 0 0 0 2 0 0 1 0 27.2 244074 chr2 32289034 32289034 C A rs121908517 SPAST Nonsynonymous SNV P45Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.18 244075 chr11 68181411 68181411 A G LRP5 Nonsynonymous SNV I339V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 244076 chr2 74725437 74725437 C G rs184278980 LBX2 Nonsynonymous SNV G68R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 244077 chr10 102275926 102275926 C T rs747139486 SEC31B Nonsynonymous SNV E44K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 244078 chr2 39250079 39250079 C T rs371314838 SOS1 Nonsynonymous SNV R497Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.1 244079 chr2 44023869 44023869 G A rs768786748 DYNC2LI1 Nonsynonymous SNV E198K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 244080 chr11 70279238 70279238 A G rs762002845 CTTN Nonsynonymous SNV Y396C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.267 244081 chr2 88327387 88327387 A G rs12999878 KRCC1 Synonymous SNV R232R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.402 244082 chr10 11535159 11535159 T C rs367965067 USP6NL Synonymous SNV T168T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.767 244083 chr11 73361600 73361600 T G rs990412832 PLEKHB1 Nonsynonymous SNV S14A 0 0.005 0 0 0 2 0 0 0 0 0 0 18.26 244084 chr5 61690420 61690420 A G rs147688707 DIMT1 Star tloss M154T 0 0 0 2 0 0 0.005 0 0 0 0 0 27.3 244085 chr2 99634748 99634748 T G rs148816283 TSGA10 Nonsynonymous SNV T554P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.119 244086 chr19 1465442 1465442 C T rs1008965530 APC2 Synonymous SNV C713C 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.79 244087 chr2 64779704 64779704 G A AFTPH Nonsynonymous SNV A366T 0 0 0 3 0 0 0.008 0 0 0 0 0 9.02 244088 chr10 118315007 118315007 G A rs62623373 PNLIP Nonsynonymous SNV G267R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 244089 chr10 124647973 124647973 C T rs9423288 LOC399815 0 0 0.01 0 0 0 0 3 0 0 0 0 5.734 244090 chr10 124648206 124648206 C T rs11248323 LOC399815 0 0 0.01 0 0 0 0 3 0 0 0 0 6.597 244091 chr2 113820203 113820209 TGGTGGC - rs747464195 IL36RN G141Mfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 244092 chr11 85435210 85435210 T C SYTL2 Nonsynonymous SNV T1731A 0 0.005 0 0 0 2 0 0 0 0 0 0 2.6 244093 chr10 129859028 129859028 C T rs78189102 AS-PTPRE 0 0 0.017 0 0 0 0 5 0 0 1 0 5.652 244094 chr10 13234316 13234316 G A rs148826951 MCM10 Synonymous SNV T526T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 244095 chr10 133608078 133608078 G C rs181962694 LINC01164 0 0 0.003 0 0 0 0 1 0 0 0 0 0.433 244096 chr3 124103805 124103805 C T rs779697643 KALRN Synonymous SNV I626I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.92 244097 chr11 92564988 92564988 G A rs975595711 FAT3 Nonsynonymous SNV D3228N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 244098 chr12 15652456 15652456 G C PTPRO Nonsynonymous SNV E197Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 244099 chr3 130116722 130116722 G A rs143406770 COL6A5 Synonymous SNV R1288R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.05 244100 chr10 5144306 5144306 C G AKR1C3 Nonsynonymous SNV P195R 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 244101 chr12 27944686 27944686 C T rs772943373 KLHL42 Synonymous SNV I306I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.37 244102 chr3 136573848 136573848 T C rs372007327 SLC35G2 Synonymous SNV A182A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.113 244103 chr3 138665079 138665079 G C FOXL2 Synonymous SNV P162P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 244104 chr10 24834912 24834912 A T KIAA1217 Nonsynonymous SNV T949S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 244105 chr10 31001587 31001587 A T rs180943080 SVIL2P 0 0 0.007 0 0 0 0 2 0 0 0 0 3.113 244106 chr12 110451033 110451033 G C ANKRD13A Nonsynonymous SNV E111D 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 244107 chr12 113748112 113748112 A G SLC8B1 Nonsynonymous SNV V339A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.54 244108 chr12 114380174 114380174 C A rs140929347 RBM19 Synonymous SNV R564R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.31 244109 chr12 114386832 114386832 T - RBM19 Y361Sfs*78 0 0.005 0 0 0 2 0 0 0 0 0 0 244110 chr6 1390860 1390860 C T FOXF2 Synonymous SNV D226D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.99 244111 chr10 61718500 61718500 T C LINC01553 0 0 0.003 0 0 0 0 1 0 0 0 0 1.366 244112 chr19 3805965 3805965 G A rs537031459 ZFR2 Synonymous SNV G934G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.008 244113 chr19 3810831 3810831 C T rs767595355 ZFR2 Nonsynonymous SNV G784S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 244114 chr19 3852487 3852487 C T rs373835450 ZFR2 Nonsynonymous SNV C60Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.128 244115 chr10 79579215 79579215 G A DLG5 Nonsynonymous SNV P1179S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 244116 chr2 219206277 219206277 G A rs767210828 PNKD Nonsynonymous SNV R158H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 244117 chr11 107207354 107207354 T C rs149794929 CWF19L2 Nonsynonymous SNV Q763R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.097 244118 chr6 168910644 168910644 C T rs141002558 SMOC2 Nonsynonymous SNV A45V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.92 244119 chr6 168944310 168944310 G A rs760957656 SMOC2 Nonsynonymous SNV V157I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 244120 chr12 2788732 2788732 C T rs199538058 CACNA1C Synonymous SNV G1746G 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 14.75 244121 chr12 40646737 40646737 C T LRRK2 Nonsynonymous SNV L403F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 244122 chr10 99327714 99327714 C T rs756132422 UBTD1 Synonymous SNV S38S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 244123 chr12 46320036 46320036 C T rs574368929 SCAF11 Nonsynonymous SNV V1150M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 244124 chr11 100999109 100999109 C T PGR Synonymous SNV E231E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 244125 chr4 8621297 8621297 T C rs372696621 CPZ Nonsynonymous SNV F627L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.16 244126 chr11 120745869 120745869 G A rs760568696 GRIK4 Nonsynonymous SNV G361S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 244127 chr11 123493225 123493225 G A rs146845869 GRAMD1B Synonymous SNV S673S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 10.61 244128 chr11 1093575 1093575 G A rs201450769 MUC2 Synonymous SNV T1798T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.185 244129 chr11 72539987 72539987 T G ATG16L2 Nonsynonymous SNV V471G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.8 244130 chr12 53189286 53189286 G A KRT3 Stop gain Q181X 0 0.005 0 0 0 2 0 0 0 0 0 0 36 244131 chr19 50303356 50303356 C A rs756706797 AP2A1 Synonymous SNV I468I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.6 244132 chr4 56230323 56230323 C T rs904639792 SRD5A3 Synonymous SNV Y149Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.53 244133 chr4 71115008 71115008 T G rs200499713 CSN3 Nonsynonymous SNV D127E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.108 244134 chr13 25875958 25875958 C T rs764554700 NUP58 Nonsynonymous SNV T16I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 244135 chr19 5245971 5245971 G A rs2230607 PTPRS Synonymous SNV A255A 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 13.22 244136 chr12 59268009 59268009 G A rs140112794 LRIG3 Synonymous SNV C921C 0 0.005 0 0 0 2 0 0 0 0 0 0 5.141 244137 chr3 46722793 46722793 G A rs200066715 ALS2CL Nonsynonymous SNV T460M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 244138 chr12 64746730 64746730 T C rs748062874 C12orf56 Nonsynonymous SNV N120S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.002 244139 chr11 129744093 129744093 C T rs770552819 NFRKB Nonsynonymous SNV A757T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 244140 chr4 101342474 101342474 A C rs756728846 EMCN Nonsynonymous SNV V197G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 244141 chr11 130068213 130068213 C T rs140209483 ST14 Synonymous SNV A490A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.54 244142 chr11 134147635 134147635 G C rs765094431 GLB1L3 Nonsynonymous SNV R64P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 244143 chr3 38357960 38357960 C T rs745521792 SLC22A14 Nonsynonymous SNV P560S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 244144 chr12 7361766 7361766 T C rs140330381 PEX5 Synonymous SNV N512N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.05 244145 chr6 84300969 84300969 C A rs199865724 SNAP91 Nonsynonymous SNV A629S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 25.3 244146 chr11 18487255 18487255 C T rs370995438 LDHAL6A Nonsynonymous SNV R106C 0 0 0.007 0 0 0 0 2 0 0 0 0 32 244147 chr9 123476542 123476542 - CGGCGGCGGCGGCGG MEGF9 A31_V32insAAAAA 0 0.003 0 0 0 1 0 0 0 0 0 0 244148 chr11 19170854 19170854 A G rs376449624 ZDHHC13 Nonsynonymous SNV I35M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 244149 chr13 96601620 96601620 A G UGGT2 Nonsynonymous SNV V475A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.9 244150 chr6 97533122 97533122 C T rs79241754 KLHL32 Nonsynonymous SNV R109C 0 0 0 3 0 0 0.008 0 0 0 0 0 34 244151 chr19 56125165 56125165 - GCCCCC ZNF865 A61delinsGPP 0.001 0 0 0 1 0 0 0 0 0 0 0 244152 chr11 205581 205581 C A rs1046803037 BET1L Synonymous SNV V66V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.292 244153 chr7 100212647 100212647 C T rs147915432 MOSPD3 Synonymous SNV Y213Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.646 244154 chr11 2423919 2423919 C T rs199513736 TSSC4 Nonsynonymous SNV T19M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 244155 chr4 145659026 145659026 C G rs142555055 HHIP Nonsynonymous SNV R674G 0 0.005 0 0 0 2 0 0 0 0 0 0 30 244156 chr12 119631575 119631575 C T rs373049356 HSPB8 Nonsynonymous SNV A168V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 244157 chr4 152086764 152086764 C T rs771585389 SH3D19 Nonsynonymous SNV R260Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 244158 chr12 989017 989017 G A rs142528714 WNK1 Synonymous SNV A884A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.45 244159 chr14 105181034 105181034 A G rs778879482 INF2 Nonsynonymous SNV T1179A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.23 244160 chr12 121877739 121877739 G A rs35674891 KDM2B Synonymous SNV H1181H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 244161 chr12 121882313 121882313 G A rs34911648 KDM2B Synonymous SNV N679N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 244162 chr4 159754694 159754694 T G rs765724696 FNIP2 Nonsynonymous SNV F213C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 244163 chr12 124416303 124416303 T C DNAH10 Nonsynonymous SNV L4228P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 244164 chr13 113720409 113720409 T C MCF2L Nonsynonymous SNV L231P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 244165 chr11 4615815 4615815 T C rs139291466 OR52I1 Nonsynonymous SNV C183R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 25.5 244166 chr19 7166216 7166216 G A rs777486535 INSR Nonsynonymous SNV R604W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 244167 chr4 109862520 109862520 A G COL25A1 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 244168 chr19 7711172 7711172 G A rs771732155 STXBP2 Nonsynonymous SNV R462H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.5 244169 chr11 47469631 47469631 G T rs104894299 RAPSN Nonsynonymous SNV N88K 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 244170 chr7 107808776 107808776 C T rs182113726 NRCAM Nonsynonymous SNV E1059K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.42 244171 chr4 120221862 120221862 C T C4orf3 Synonymous SNV E76E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.33 244172 chr13 28127429 28127429 G A rs146751050 LNX2 Nonsynonymous SNV A565V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.8 244173 chr7 123508364 123508364 G A rs377431401 HYAL4 Nonsynonymous SNV V13I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.006 244174 chr3 81627202 81627202 C T rs201758548 GBE1 Nonsynonymous SNV E498K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 34 244175 chr5 5489344 5489344 C T rs779755507 ICE1 Synonymous SNV I2234I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.55 244176 chr7 127224731 127224731 G A rs754945493 GCC1 Nonsynonymous SNV T169I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27 244177 chr3 97680442 97680442 A G rs774251927 RIOX2 Synonymous SNV D181D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.901 244178 chr7 128505444 128505444 C T rs202011602 ATP6V1F Nonsynonymous SNV R58W 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 34 244179 chr4 15009127 15009127 A G rs369334098 CPEB2 Nonsynonymous SNV T621A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.09 244180 chr3 111264012 111264012 G A rs150450686 CD96 Nonsynonymous SNV V61I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 12.8 244181 chr11 5424384 5424388 ATCTT - OR51J1 Y188Ifs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 244182 chr13 52650276 52650276 T A NEK5 Nonsynonymous SNV I526F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23 244183 chr7 139311475 139311475 C T rs765444198 HIPK2 Synonymous SNV R497R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.96 244184 chr1 10403302 10403302 G A rs147318592 KIF1B Synonymous SNV P1169P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign/Likely benign 7.684 244185 chr12 48369284 48369284 G T rs891008017 COL2A1 Nonsynonymous SNV D1165E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.93 244186 chr11 55746636 55746636 C T rs10897478 OR7E5P 0 0 0.014 0 0 0 0 4 0 0 0 0 1.93 244187 chr1 109944708 109944708 G C PSMA5 Nonsynonymous SNV A160G 0.002 0 0 0 2 0 0 0 0 0 0 0 25 244188 chr13 99037097 99037097 A G rs184642774 FARP1 Nonsynonymous SNV I204V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 1.252 244189 chr13 99907224 99907224 C T rs147474658 GPR18 Nonsynonymous SNV M301I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.694 244190 chr4 178359925 178359925 G A rs777637637 AGA Nonsynonymous SNV R161W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.9 244191 chr11 56237488 56237488 G A rs143720540 OR5M3 Synonymous SNV Y162Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 244192 chr11 562571 562571 G A rs182995401 RASSF7 Nonsynonymous SNV R206Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 244193 chr3 127642198 127642198 T A rs191035790 KBTBD12 Nonsynonymous SNV N98K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 244194 chr3 129324808 129324808 G C rs778962698 PLXND1 Synonymous SNV R225R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.735 244195 chr4 189068452 189068452 T A TRIML1 Nonsynonymous SNV F445I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.33 244196 chr7 15725820 15725821 GG - rs745896587 MEOX2 H69Qfs*134 0.001 0 0 3 1 0 0.008 0 0 0 0 0 244197 chr7 15725823 15725823 G - rs780233864 MEOX2 H69Tfs*147 0.001 0 0 3 1 0 0.008 0 0 0 0 0 244198 chr1 145541882 145541882 C G rs59254015 ITGA10 Synonymous SNV L992L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 244199 chr1 145595152 145595152 T G rs782169531 POLR3C Synonymous SNV S443S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 244200 chr1 147095976 147095976 C T rs139128167 BCL9 Nonsynonymous SNV P1166L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 244201 chr7 30795419 30795419 C T rs35221354 INMT Synonymous SNV A247A 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 10.49 244202 chr11 61533522 61533522 G A rs775076363 MYRF Nonsynonymous SNV S76N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 244203 chr14 24768168 24768168 G A rs749980818 DHRS1 Stop gain Q49X 0.003 0.005 0 0 3 2 0 0 0 0 0 0 35 244204 chr11 61897948 61897948 G A rs144514553 INCENP Nonsynonymous SNV V317I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.347 244205 chr4 5990491 5990491 G A C4orf50 Synonymous SNV R915R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.973 244206 chr11 62380846 62380846 T C ROM1 Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 244207 chr11 6260437 6260437 A G rs371032766 CNGA4 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.75 244208 chr11 63175599 63175599 G A rs144303933 SLC22A9 Nonsynonymous SNV R435H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 244209 chr11 64622174 64622174 G A rs776582961 EHD1 Synonymous SNV G412G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 244210 chr14 45645955 45645955 A C rs143681767 FANCM Nonsynonymous SNV Q1307P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.014 244211 chr1 158532447 158532447 C A rs200912715 OR6P1 Nonsynonymous SNV Q316H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.825 244212 chr11 6498396 6498396 T C rs748286505 ARFIP2 Nonsynonymous SNV I240V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.454 244213 chr11 66466507 66466507 G A rs148878156 SPTBN2 Nonsynonymous SNV R1275W 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 34 244214 chr14 52907441 52907441 G A rs777830716 TXNDC16 Nonsynonymous SNV P610L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 244215 chr11 6566070 6566070 A C DNHD1 Nonsynonymous SNV I1301L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 244216 chr14 56763743 56763743 G A rs112097284 PELI2 Synonymous SNV S374S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.18 244217 chr14 57858167 57858167 G T rs368481115 NAA30 Synonymous SNV A164A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 244218 chr11 6636773 6636773 C T rs121908199 TPP1 Nonsynonymous SNV G389E 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 28.4 244219 chr11 6638599 6638599 T C rs2555170 TPP1 Synonymous SNV E147E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.159 244220 chr11 6638938 6638938 T C rs1800746 TPP1 Nonsynonymous SNV Q100R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.057 244221 chr7 55493076 55493076 C T LANCL2 Nonsynonymous SNV L380F 0.002 0 0 3 2 0 0.008 0 0 0 0 0 32 244222 chr12 96387733 96387733 A G rs763555567 HAL Nonsynonymous SNV V152A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 244223 chr14 64540794 64540794 C T rs1048325951 SYNE2 Synonymous SNV T3602T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 244224 chr11 6898771 6898771 T C rs142568206 OR10A4 Nonsynonymous SNV V298A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 244225 chr11 6943127 6943127 - CAA rs764806873 OR2D3 P299_M300insT 0 0 0.003 0 0 0 0 1 0 0 0 0 244226 chr11 73717301 73717301 C T rs183714776 UCP3 Nonsynonymous SNV G84S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 34 244227 chr7 80302700 80302700 T C rs550279316 CD36 Nonsynonymous SNV I371T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 244228 chr14 75230817 75230819 TCC - YLPM1 S214del 0 0.005 0 0 0 2 0 0 0 0 0 0 244229 chr1 173883748 173883748 C T rs200810296 SERPINC1 Synonymous SNV T117T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.02 244230 chr11 77728059 77728059 C T KCTD14 Synonymous SNV K116K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.19 244231 chr4 7666181 7666181 G A rs772555808 SORCS2 Nonsynonymous SNV D352N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 244232 chr11 76371755 76371755 G A rs745885111 LRRC32 Synonymous SNV S184S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.303 244233 chr10 121602881 121602881 T C rs35484984 MCMBP Synonymous SNV R295R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.937 244234 chr10 121662395 121662395 C T rs35859163 SEC23IP Synonymous SNV L261L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.436 244235 chr5 150712818 150712818 T C SLC36A2 Synonymous SNV G270G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.965 244236 chr1 176668483 176668483 C T PAPPA2 Synonymous SNV P998P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 244237 chr14 77919676 77919676 C G rs200653382 VIPAS39 Synonymous SNV L54L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.58 244238 chr14 78374335 78374335 G A rs182512927 ADCK1 Nonsynonymous SNV V311M 0 0.005 0.003 0 0 2 0 1 0 0 0 0 3.095 244239 chr1 180842944 180842944 C T rs141109394 XPR1 Synonymous SNV Y493Y 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.941 244240 chr4 37592149 37592149 A G C4orf19 Nonsynonymous SNV M158V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 244241 chr10 134179039 134179039 C T rs373942485 LRRC27 Synonymous SNV A340A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 244242 chr15 100589111 100589111 G A rs752752402 ADAMTS17 Nonsynonymous SNV R848C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 244243 chr12 10103963 10103963 T G rs1039870011 CLEC12A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.88 244244 chr4 47559859 47559864 CAGCTT - rs761349102 ATP10D A669_S670del 0.001 0 0 0 1 0 0 0 0 0 0 0 244245 chr15 101586238 101586238 A G rs368618286 LRRK1 Nonsynonymous SNV M1006V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.03 244246 chr1 200008823 200008823 C T rs145778729 NR5A2 Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 244247 chr1 20005829 20005829 C T rs551569410 HTR6 Nonsynonymous SNV R431W 0.003 0 0 0 3 0 0 0 0 0 0 0 31 244248 chr12 10531209 10531209 C A rs147568901 KLRC4-KLRK1, KLRK1 Nonsynonymous SNV A125S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 244249 chr1 200817385 200817385 T C CAMSAP2 Synonymous SNV S480S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.081 244250 chr1 201860604 201860604 C A rs143779561 SHISA4 Nonsynonymous SNV A152E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 244251 chr13 75900510 75900510 G A rs56223054 TBC1D4 Nonsynonymous SNV P619L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 20.9 244252 chr1 202097648 202097648 G A rs116810937 GPR37L1 Synonymous SNV E470E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 244253 chr12 110231776 110231776 C A rs777901220 TRPV4 Nonsynonymous SNV V408F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.07 244254 chr12 110924420 110924420 A C rs149618288 FAM216A Nonsynonymous SNV Q173P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 244255 chr13 99087870 99087870 C T rs144530717 FARP1 Synonymous SNV H728H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 244256 chr10 30318519 30318519 C T rs757551308 JCAD Synonymous SNV L186L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.227 244257 chr15 41245959 41245959 T C rs143317285 CHAC1 Nonsynonymous SNV Y60H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 244258 chr12 116549315 116549315 C T rs548302905 MED13L Nonsynonymous SNV V105M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 244259 chr4 78647356 78647356 A G rs377046330 CNOT6L Synonymous SNV L474L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.068 244260 chr8 144163909 144163909 C T rs765073883 LY6L Synonymous SNV F86F 0 0 0 2 0 0 0.005 0 0 0 0 0 10.72 244261 chr4 83838339 83838339 T C rs141560028 THAP9 Nonsynonymous SNV M325T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.67 244262 chr8 144690264 144690264 C T rs34121654 PYCR3 Nonsynonymous SNV A42T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25 244263 chr15 44046051 44046051 A G rs760346730 PDIA3 Nonsynonymous SNV E66G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 32 244264 chr8 144991746 144991746 G A rs185022156 PLEC Synonymous SNV T4067T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.032 244265 chr10 49659155 49659155 G A rs75816016 ARHGAP22 Synonymous SNV T249T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.852 244266 chr6 26385503 26385503 G A rs577086730 BTN2A2 Nonsynonymous SNV V119I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.36 244267 chr1 214811243 214811243 A C CENPF Nonsynonymous SNV H494P 0.004 0 0 0 5 0 0 0 0 0 0 0 23.2 244268 chr12 125478382 125478390 CTGCTGCTG - rs758089880 BRI3BP L23_L25del 0 0 0.003 0 0 0 0 1 0 0 0 0 244269 chr6 27276846 27276846 T C POM121L2 Nonsynonymous SNV K1035R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 244270 chr15 49170888 49170888 A G rs767925390 EID1 Nonsynonymous SNV N172S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 244271 chr12 129190218 129190218 C A TMEM132C Nonsynonymous SNV P902H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 244272 chr12 129190777 129190777 C T rs148705796 TMEM132C Synonymous SNV D1088D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.925 244273 chr15 50867089 50867089 C T rs139291139 TRPM7 Nonsynonymous SNV S1659N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 17.98 244274 chr15 51758447 51758447 T C rs114516513 DMXL2 Nonsynonymous SNV D1848G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 24.3 244275 chr8 145168916 145168916 A G rs755090711 WDR97 Nonsynonymous SNV S1149G 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 0.003 244276 chr10 61432666 61432666 C T rs764031650 SLC16A9 Nonsynonymous SNV V68I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 244277 chr8 1649491 1649491 G A rs373924633 DLGAP2 Synonymous SNV A1029A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.38 244278 chr8 17486087 17486087 C T rs141210622 PDGFRL Synonymous SNV T199T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.19 244279 chr14 23821271 23821271 G C SLC22A17 Synonymous SNV V51V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 244280 chr10 6528026 6528026 C T rs754458441 PRKCQ Nonsynonymous SNV A166T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 244281 chr12 26784841 26784841 C T rs199942805 ITPR2 Synonymous SNV V964V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 244282 chr12 27461364 27461364 G C STK38L Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.248 244283 chr4 147560478 147560478 - GGC POU4F2 G68_R69insG 0.001 0 0 0 1 0 0 0 0 0 0 0 244284 chr8 22494441 22494441 A G rs200762212 BIN3 Nonsynonymous SNV F4L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 244285 chr4 151773714 151773714 C T LRBA Nonsynonymous SNV V1050I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 244286 chr15 69689744 69689744 C T rs752885283 LOC145694 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.255 244287 chr15 72146844 72146844 T A rs200455358 MYO9A Nonsynonymous SNV T2074S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.198 244288 chr16 23711984 23711984 C G rs374036976 ERN2 Synonymous SNV L415L 0 0.005 0 0 0 2 0 0 0 0 0 0 5.791 244289 chr12 40748288 40748288 A T rs200762374 LRRK2 Nonsynonymous SNV K2255M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 244290 chr12 48185738 48185738 G C HDAC7 Nonsynonymous SNV D539E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 244291 chr15 75969385 75969385 C T rs201004206 CSPG4 Synonymous SNV V1825V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.054 244292 chr8 28827939 28827939 A G rs773540676 HMBOX1 Nonsynonymous SNV T135A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.294 244293 chr15 77067429 77067429 C T rs368484203 SCAPER Nonsynonymous SNV V22I 0 0.005 0 0 0 2 0 0 0 0 0 0 31 244294 chr15 77329411 77329411 C T rs202205180 PSTPIP1 Nonsynonymous SNV A363V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 2.534 244295 chr15 80429928 80429928 A G rs750865747 ZFAND6 Synonymous SNV K157K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.354 244296 chr12 50847337 50847337 A C rs770883830 LARP4 Nonsynonymous SNV Q282P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.5 244297 chr4 184930447 184930447 A G rs970132880 STOX2 Synonymous SNV R152R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.576 244298 chr12 51773455 51773455 G A rs144049708 GALNT6 Synonymous SNV A37A 0.001 0.005 0.014 0 1 2 0 4 0 0 0 0 11.93 244299 chr12 52913777 52913777 C T rs539432563 KRT5 Nonsynonymous SNV G102S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.72 244300 chr14 65261215 65261215 C T rs61459051 SPTB Nonsynonymous SNV A589T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.01 244301 chr10 98743488 98743488 G A rs141096868 LCOR Nonsynonymous SNV V1091M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 244302 chr15 90633791 90633791 A G rs139512088 IDH2 Nonsynonymous SNV I46T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 26.2 244303 chr8 8175878 8175878 G A rs371899149 PRAG1 Nonsynonymous SNV P1336L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.94 244304 chr15 90996450 90996450 T C IQGAP1 Synonymous SNV D471D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.089 244305 chr12 56089355 56089355 C A rs372579627 ITGA7 Nonsynonymous SNV A204S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 20.6 244306 chr15 97328278 97328278 A G rs374577515 SPATA8 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.388 244307 chr15 98504207 98504207 C A ARRDC4 Nonsynonymous SNV A39D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24 244308 chr12 57989731 57989731 T G rs758470788 PIP4K2C Nonsynonymous SNV S144A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.5 244309 chr16 112625 112625 C T RHBDF1 Synonymous SNV A288A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.26 244310 chr16 11785558 11785558 T C TXNDC11 Synonymous SNV L44L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.788 244311 chr9 100961664 100961664 C T rs774560481 TBC1D2 Synonymous SNV X469X 0 0 0 3 0 0 0.008 0 0 0 0 0 13.95 244312 chr12 66638926 66638926 C G rs146120640 IRAK3 Nonsynonymous SNV L339V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.019 244313 chr14 92126237 92126237 T C rs76064147 CATSPERB Nonsynonymous SNV Y459C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 244314 chr6 109520882 109520882 C A CCDC162P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 244315 chr6 111587268 111587268 C G MFSD4B Nonsynonymous SNV A168G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.636 244316 chr14 93125541 93125541 C T RIN3 Synonymous SNV L613L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 244317 chr5 78426859 78426859 G A rs148233515 BHMT Nonsynonymous SNV E381K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 244318 chr14 93263878 93263878 C T rs140027628 GOLGA5 Synonymous SNV A32A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.628 244319 chr14 94526879 94526879 T C rs61737408 DDX24 Nonsynonymous SNV N493S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.982 244320 chr14 94545604 94545604 C T rs148489393 DDX24 Nonsynonymous SNV G162E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 244321 chr5 79095273 79095273 A G CMYA5 Nonsynonymous SNV Y4015C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 244322 chr14 94780771 94780771 A G rs199720892 SERPINA6 Nonsynonymous SNV M72T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.954 244323 chr6 117632282 117632283 TG - ROS1 0 0.003 0 0 0 1 0 0 0 0 0 0 244324 chr5 83362312 83362312 C G rs138920492 EDIL3 Nonsynonymous SNV K245N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.9 244325 chr5 54529072 54529072 C G rs1009890743 CCNO Nonsynonymous SNV D94H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 244326 chr5 56777770 56777770 G A ACTBL2 Synonymous SNV R255R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.071 244327 chr12 82828483 82828483 C T rs779378824 METTL25 Nonsynonymous SNV R375W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 244328 chr5 93077078 93077078 G A rs767493941 POU5F2 Synonymous SNV P64P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.192 244329 chr16 2334986 2334986 G A rs148473733 ABCA3 Nonsynonymous SNV A1166V 0 0.005 0 0 0 2 0 0 0 0 0 0 12.69 244330 chr5 71489915 71489915 A G MAP1B Nonsynonymous SNV I119V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12 244331 chr12 97051791 97051791 C T rs114864261 CFAP54 Synonymous SNV H1744H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 244332 chr11 117261817 117261817 G A CEP164 Synonymous SNV E726E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.342 244333 chr16 29690420 29690420 G - rs768444967 QPRT G2Afs*20 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 244334 chr16 30021558 30021558 T C rs373664334 DOC2A 0 0.005 0 0 0 2 0 0 0 0 0 0 17.93 244335 chr9 125486900 125486900 C T OR1L4 Nonsynonymous SNV P211L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.3 244336 chr6 158957787 158957787 C T rs769297253 TMEM181 Synonymous SNV A103A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.16 244337 chr13 114498187 114498187 G A rs374717495 TMEM255B Nonsynonymous SNV G107S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 244338 chr9 130258326 130258326 C T rs753979299 LRSAM1 Synonymous SNV R594R 0 0 0 2 0 0 0.005 0 0 0 0 0 17.55 244339 chr1 52703884 52703884 G A rs767011736 ZFYVE9 Synonymous SNV T265T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 244340 chr16 4475994 4475994 T A rs781745947 DNAJA3 Star tloss W38R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.051 244341 chr9 131772470 131772470 C T rs12554941 SH3GLB2 Nonsynonymous SNV V202M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 244342 chr11 124626167 124626167 G A rs139265422 ESAM Synonymous SNV P181P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 244343 chr13 31002160 31002160 T C rs140813882 UBE2L5 Synonymous SNV L11L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 244344 chr16 48220908 48220908 C G rs771985842 ABCC11 Synonymous SNV L1009L 0.003 0.005 0 4 3 2 0.01 0 0 0 0 0 10.99 244345 chr16 4944547 4944547 C T PPL Nonsynonymous SNV A439T 0 0.005 0 0 0 2 0 0 0 0 0 0 3.398 244346 chr7 5427815 5427815 G C TNRC18 Nonsynonymous SNV S547C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.13 244347 chr7 5540869 5540869 C T FBXL18 Nonsynonymous SNV S344N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 244348 chr13 49710673 49710673 A G rs141169070 FNDC3A Synonymous SNV T176T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.49 244349 chr11 14490932 14490932 G C rs768589584 COPB1 Nonsynonymous SNV L639V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 244350 chr9 138651531 138651531 C T rs750884338 KCNT1 Synonymous SNV C242C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.361 244351 chr13 53616105 53616105 C T rs200157912 OLFM4 Stop gain R140X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 244352 chr11 17653755 17653755 C T rs756364973 OTOG Nonsynonymous SNV R2364W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 244353 chr11 17663746 17663746 C T rs952407320 OTOG Nonsynonymous SNV R2802C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 244354 chr13 78273085 78273085 A T SLAIN1 Synonymous SNV R9R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.329 244355 chr7 20825331 20825331 G A rs771778506 SP8 Synonymous SNV S35S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 244356 chr14 100118744 100118744 C T rs148206009 HHIPL1 Nonsynonymous SNV R147C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 244357 chr14 100759010 100759010 - GC rs755310275 SLC25A29 Frameshift insertion T110Sfs*172 0 0 0.003 0 0 0 0 1 0 0 0 0 244358 chr16 77775724 77775724 G A rs373948761 NUDT7 Synonymous SNV L145L 0 0.005 0 0 0 2 0 0 0 0 0 0 2.792 244359 chr14 105688099 105688099 A T rs757884349 BRF1 Nonsynonymous SNV W163R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 244360 chr13 45147629 45147629 G C TSC22D1 Nonsynonymous SNV P861R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.04 244361 chr15 85400273 85400273 A T rs776562711 ALPK3 Nonsynonymous SNV K768N 0.003 0 0 0 4 0 0 0 0 0 0 0 10.88 244362 chr13 46288472 46288472 A G rs753917305 CBY2 Nonsynonymous SNV R411G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 244363 chr6 17292273 17292290 GCCGCTGCAGCAGCTGCT - rs754458228 RBM24 A171_A176del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 244364 chr9 35906586 35906586 - CCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPHHTPHHLHHHHHHPH 0 0 0 1 0 0 0.003 0 0 0 0 0 244365 chr1 94508441 94508441 T C rs749704079 ABCA4 Synonymous SNV R1068R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 3.464 244366 chr1 95322948 95322948 G A rs775049702 SLC44A3 Nonsynonymous SNV R341Q 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 17.61 244367 chr1 97915615 97915615 G C rs3918289 DPYD Nonsynonymous SNV N635K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 244368 chr1 99771270 99771270 C T rs41285712 PLPPR4 Synonymous SNV P274P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.506 244369 chr15 90119018 90119018 G T TICRR Nonsynonymous SNV E67D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 244370 chr16 84495442 84495442 C T rs777893489 ATP2C2-AS1 0.002 0.005 0 0 2 2 0 0 0 0 0 0 2.402 244371 chr9 73151521 73151521 G A rs766444608 TRPM3 Nonsynonymous SNV P1328L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.8 244372 chr11 47510546 47510546 G A CELF1 Synonymous SNV H7H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.49 244373 chr14 23842593 23842593 C G IL25 Nonsynonymous SNV P89R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 244374 chr16 88504534 88504534 G A rs191234581 ZNF469 Synonymous SNV P3552P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.834 244375 chr14 24568909 24568909 G A rs762300242 PCK2 Stop gain W332X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 244376 chr14 24642181 24642184 CTCT - REC8 L67Ifs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 244377 chr7 76019445 76019445 A G rs140682020 SSC4D Synonymous SNV S553S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.86 244378 chr6 35261571 35261571 T C ZNF76 Nonsynonymous SNV I458T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 244379 chr11 48387677 48387677 G A OR4C5 Nonsynonymous SNV S114F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 244380 chr14 44973973 44973973 G A rs777527806 FSCB Nonsynonymous SNV P740S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.21 244381 chr14 47770744 47770744 G A rs768977988 MDGA2 Nonsynonymous SNV T28M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 244382 chr11 4843033 4843033 A G rs753796848 OR51F2 Nonsynonymous SNV I128V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 244383 chr16 90086379 90086379 G A rs994326183 DBNDD1 Nonsynonymous SNV P50S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 244384 chr11 4870343 4870343 G A rs143178206 OR51S1 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.576 244385 chr11 4870361 4870361 T C rs775649547 OR51S1 Synonymous SNV P26P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 244386 chr20 2637642 2637642 T C SNORD57 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 244387 chr7 94913521 94913521 G A PPP1R9A Nonsynonymous SNV G1123E 0 0.003 0 0 0 1 0 0 0 0 0 0 24 244388 chr7 98453658 98453658 C T rs781989024 TMEM130 Nonsynonymous SNV A132T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 244389 chr17 1384104 1384104 G A MYO1C Nonsynonymous SNV R235W 0 0.005 0 0 0 2 0 0 0 0 0 0 33 244390 chrX 140994113 140994113 - CTC MAGEC1 S313_T314insS 0 0 0 1 0 0 0.003 0 0 0 0 0 244391 chr17 15341444 15341444 A G rs150395071 CDRT4 Synonymous SNV Y35Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.012 244392 chr17 18256994 18256994 C T rs368060897 SHMT1 Synonymous SNV P78P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.84 244393 chr17 18881062 18881062 G A rs371125554 FAM83G Synonymous SNV N639N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.795 244394 chr14 75348668 75348668 A G rs373129809 DLST Synonymous SNV R4R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.468 244395 chr16 30097968 30097968 T C TBX6 Nonsynonymous SNV E321G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.676 244396 chr16 30097989 30097989 G A TBX6 Nonsynonymous SNV T314I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 244397 chrX 54948725 54948725 G A rs939299265 TRO 0.001 0 0 6 1 0 0.015 0 0 0 0 3 22.7 244398 chr16 30723195 30723195 A G SRCAP Nonsynonymous SNV H511R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.136 244399 chr17 27041826 27041826 T C rs371761055 RAB34 Nonsynonymous SNV I233V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.82 244400 chr15 100889454 100889454 G A rs145967157 SPATA41 0 0 0.007 0 0 0 0 2 0 0 0 0 7.301 244401 chr15 25477572 25477572 G T SNORD115-21, SNORD115-34 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 244402 chr17 37373352 37373352 G A STAC2 Nonsynonymous SNV H16Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 244403 chr15 34049687 34049687 G A rs756412825 RYR3 Synonymous SNV P2865P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 244404 chr16 67203222 67203222 C T rs368325207 HSF4 Nonsynonymous SNV A432V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.76 244405 chr14 77270152 77270152 G T ANGEL1 Nonsynonymous SNV T495N 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 244406 chr16 67272119 67272119 C T rs140668109 FHOD1 Nonsynonymous SNV S178N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 244407 chr6 56504848 56504848 A G DST Nonsynonymous SNV L296P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 244408 chr17 39535254 39535254 A G KRT34 Nonsynonymous SNV C393R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.014 244409 chr7 149531014 149531014 A G SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 2.59 244410 chr15 42644320 42644320 G A GANC Nonsynonymous SNV E910K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 244411 chr15 42984923 42984923 A G STARD9 Nonsynonymous SNV D3716G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.837 244412 chr11 61110105 61110105 C A rs746419697 TKFC Nonsynonymous SNV N250K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.866 244413 chr11 61290538 61290538 C G rs753224245 SYT7 Synonymous SNV A468A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.023 244414 chr16 74339360 74339360 A G rs201421180 PSMD7 Nonsynonymous SNV N235S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 244415 chr7 150708030 150708030 A G NOS3 Synonymous SNV L980L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.77 244416 chr7 150839008 150839008 G T AGAP3 Nonsynonymous SNV V279L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.92 244417 chr16 775252 775252 G C CCDC78 Nonsynonymous SNV H159Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 244418 chr15 48058781 48058781 A T SEMA6D Nonsynonymous SNV T552S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 244419 chr11 62301164 62301164 G A rs141095416 AHNAK Nonsynonymous SNV S242L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 244420 chr21 41142993 41142993 T - IGSF5 P191Rfs*10 0.003 0 0 0 3 0 0 0 0 0 0 0 244421 chr11 62380977 62380977 G A rs747140028 ROM1 Nonsynonymous SNV G75D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 244422 chr15 52192436 52192436 G T rs778724165 TMOD3 Nonsynonymous SNV A274S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 244423 chr17 45364559 45364559 G T ITGB3 Nonsynonymous SNV V301F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.33 244424 chr11 64527223 64527223 G A rs116987552 PYGM Stop gain R50X 0.003 0 0 0 3 0 0 0 0 0 0 0 Pathogenic 35 244425 chr17 4718853 4718853 C T rs199737765 PLD2 Nonsynonymous SNV A419V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.93 244426 chr7 128477714 128477714 G T FLNC Nonsynonymous SNV V292L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 33 244427 chr17 4802544 4802544 G A rs140763858 CHRNE Nonsynonymous SNV R390W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 35 244428 chr21 47817307 47817307 C G rs139432601 PCNT Nonsynonymous SNV Q1331E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 12.43 244429 chr16 88503883 88503883 C T rs553175600 ZNF469 Synonymous SNV P3335P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 9.549 244430 chr16 88504673 88504673 G T rs199760004 ZNF469 Nonsynonymous SNV A3599S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign/Likely benign 0.305 244431 chr6 134350273 134350273 C T rs200959071 SLC2A12 Synonymous SNV E230E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.262 244432 chr15 69339822 69339822 G A rs188055665 NOX5 Nonsynonymous SNV G560R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 244433 chr16 88505155 88505155 C T rs372634401 ZNF469 Synonymous SNV S3759S 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.42 244434 chr16 88594507 88594507 G A rs141664744 ZFPM1 Synonymous SNV T191T 0.002 0.008 0 0 2 3 0 0 0 0 0 0 1.265 244435 chr11 65545800 65545800 G A rs573753103 AP5B1 Nonsynonymous SNV R722C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 244436 chr17 4883355 4883355 G A rs748416050 CAMTA2 Nonsynonymous SNV P423L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 244437 chr16 88747913 88747913 G A rs746319858 SNAI3 Nonsynonymous SNV R96W 0.002 0.008 0 0 2 3 0 0 0 0 0 0 10.19 244438 chr16 88778082 88778082 G C rs61738915 CTU2 Nonsynonymous SNV A21P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 Benign 0.363 244439 chr15 72543278 72543278 G C rs202165680 PARP6 Synonymous SNV T423T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.395 244440 chr15 40751845 40751845 G T BAHD1 Synonymous SNV S394S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.02 244441 chr15 73075733 73075733 C G rs886977414 ADPGK-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.358 244442 chr15 74631986 74631986 T A rs764270391 CYP11A1 Nonsynonymous SNV M367L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.427 244443 chr10 33619701 33619701 C T rs201182512 NRP1 Synonymous SNV P61P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.7 244444 chr16 88909447 88909447 G A rs75552025 GALNS Synonymous SNV G43G 0.002 0.008 0 0 2 3 0 0 0 0 0 0 0.813 244445 chr16 89017684 89017684 G A rs192045041 LOC100129697 Synonymous SNV P386P 0.002 0.008 0 0 2 3 0 0 0 0 0 0 2.934 244446 chr16 89262453 89262453 G A rs151127561 SLC22A31 Nonsynonymous SNV P414L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 3.444 244447 chr15 42361041 42361041 C A PLA2G4D Nonsynonymous SNV D777Y 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 244448 chr11 67132898 67132898 C G rs745851012 CLCF1 Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.499 244449 chr17 79792673 79792673 G A rs144464119 PPP1R27 Nonsynonymous SNV R53W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 244450 chr17 56676284 56676284 G T rs768769431 TEX14 Nonsynonymous SNV P814T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.512 244451 chr15 80215978 80215978 A G rs7176433 ST20, ST20-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.528 244452 chr15 80215987 80215987 C A rs7176586 ST20, ST20-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.012 244453 chr8 30945377 30945382 AAGAAG - rs781777438 WRN E509_E510del 0 0.003 0 0 0 1 0 0 0 0 0 0 244454 chr15 50540475 50540475 G A rs770618647 HDC Synonymous SNV F369F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.65 244455 chr11 72712131 72712131 T G FCHSD2 Synonymous SNV V97V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.935 244456 chr17 66920906 66920906 C T rs370110491 ABCA8 Nonsynonymous SNV D460N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.968 244457 chr15 89430478 89430478 G T rs760654586 HAPLN3 Nonsynonymous SNV L18M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 244458 chr7 193431 193431 G A FAM20C Nonsynonymous SNV G78S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.63 244459 chr10 72358845 72358845 G A rs368524364 PRF1 Nonsynonymous SNV A211V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign/Likely benign 0.122 244460 chr16 10729774 10729774 G A rs142647849 TEKT5 Nonsynonymous SNV T363M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 244461 chr17 73269230 73269230 A G LOC100287042 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.785 244462 chr17 7343037 7343037 G C rs777100094 FGF11 Nonsynonymous SNV R33P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27 244463 chr17 26944378 26944378 T A rs751399671 SPAG5-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 5.779 244464 chr8 110413805 110413805 A G PKHD1L1 Nonsynonymous SNV Q454R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 244465 chr16 1555451 1555451 G T TELO2 Nonsynonymous SNV C628F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.202 244466 chr7 11676040 11676040 C T rs756049301 THSD7A Nonsynonymous SNV E247K 0.003 0 0 0 3 0 0 0 0 0 0 0 6.994 244467 chr16 1706819 1706819 G A rs375947748 CRAMP1 Synonymous SNV T687T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 244468 chr10 91198678 91198678 C G SLC16A12 Nonsynonymous SNV E237D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.009 244469 chr12 100451443 100451443 T C rs145746040 UHRF1BP1L Synonymous SNV Q1110Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.052 244470 chr7 44113451 44113451 C T rs757030821 POLM Synonymous SNV V335V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11 244471 chr16 2229278 2229278 G A CASKIN1 Nonsynonymous SNV P1275L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 244472 chr10 99350023 99350023 G A rs565007098 C10orf62 Synonymous SNV T123T 0 0 0 2 0 0 0.005 0 0 0 0 0 13.74 244473 chr16 2285332 2285332 C T rs201928284 E4F1 Nonsynonymous SNV A528V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 244474 chr16 23619288 23619288 C T rs747785029 PALB2 Nonsynonymous SNV E1083K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 244475 chr17 78165139 78165139 C T rs767874623 CARD14 Synonymous SNV D132D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.08 244476 chr17 78350164 78350164 C T rs200435901 RNF213 Nonsynonymous SNV R4417C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.49 244477 chr16 30128306 30128306 C T rs1019644388 MAPK3 Nonsynonymous SNV R265Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 244478 chr16 30793161 30793161 C T rs747822488 ZNF629 Nonsynonymous SNV G830R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 244479 chr12 110019246 110019246 G A rs781108404 MVK Nonsynonymous SNV G140R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 244480 chr16 31383024 31383024 G T rs773401157 ITGAX Nonsynonymous SNV Q693H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.401 244481 chr17 80789536 80789536 C A rs375619355 ZNF750 Synonymous SNV S265S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.94 244482 chr7 70880914 70880914 G A GALNT17 Nonsynonymous SNV R210H 0 0 0 1 0 0 0.003 0 0 0 0 0 29 244483 chr16 4242560 4242560 C T rs372039109 SRL Nonsynonymous SNV R339Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 244484 chr7 75633171 75633171 A C STYXL1 Nonsynonymous SNV F105C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 244485 chr7 7622962 7622962 G A rs199517384 MIOS Nonsynonymous SNV R536Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 244486 chr16 1129959 1129959 T C rs368711005 SSTR5 Nonsynonymous SNV L364P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 244487 chr12 122691828 122691828 G C rs765978651 B3GNT4 Nonsynonymous SNV G319R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 244488 chr12 124163793 124163793 A C TCTN2 Nonsynonymous SNV N173T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 244489 chr16 1411902 1411902 A G rs775604993 GNPTG Nonsynonymous SNV N88S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 244490 chr12 125294817 125294817 C A rs201357313 SCARB1 Nonsynonymous SNV D249Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 244491 chr7 73477988 73477988 C T ELN Synonymous SNV V571V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.43 244492 chr16 57983274 57983274 - TCC rs374653770 CNGB1 E365_V366insE 0 0 0.003 0 0 0 0 1 0 0 0 0 244493 chr16 57996474 57996474 G A rs16959602 CNGB1 Synonymous SNV D151D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.124 244494 chr16 58031007 58031007 T C ZNF319 Nonsynonymous SNV Y388C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 244495 chr16 67578886 67578886 G A RIPOR1 Nonsynonymous SNV G970D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 244496 chr18 42532239 42532239 C T rs145566816 SETBP1 Synonymous SNV H978H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.582 244497 chr16 75682242 75682242 G A TERF2IP Synonymous SNV S154S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 244498 chr7 100004867 100004867 T C rs145418256 ZCWPW1 Nonsynonymous SNV H351R 0.003 0 0 0 3 0 0 0 0 0 0 0 18.8 244499 chr11 120776139 120776139 C T rs113906117 GRIK4 Synonymous SNV G471G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.9 244500 chr7 100244210 100244210 G A rs748227915 ACTL6B Synonymous SNV D359D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.655 244501 chr16 81990455 81990455 C A rs76506409 PLCG2 Synonymous SNV L1242L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.86 244502 chr16 2762785 2762785 C T rs141391282 PRSS27 Nonsynonymous SNV V135M 0.002 0 0 0 2 0 0 0 0 0 0 0 19 244503 chr17 48940886 48940886 G A TOB1 Nonsynonymous SNV P26S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 244504 chr17 51062995 51062995 A G C17orf112 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.427 244505 chr2 168108295 168108295 C A XIRP2 Nonsynonymous SNV H3243N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 244506 chr16 84216853 84216853 C T rs187518651 TAF1C Synonymous SNV A135A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.07 244507 chr12 26755417 26755417 C T rs61754416 ITPR2 Synonymous SNV R1188R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 244508 chr18 59739910 59739910 T C rs755462112 PIGN Nonsynonymous SNV T890A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 244509 chr2 170465182 170465182 C T rs76754479 PPIG Synonymous SNV D97D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.84 244510 chr8 126163473 126163473 G A rs377703235 NSMCE2 Nonsynonymous SNV R73Q 0 0 0 2 0 0 0.005 0 0 0 0 0 27.2 244511 chr18 67843964 67843964 T C rs368044623 RTTN Nonsynonymous SNV S475G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.46 244512 chr12 32793455 32793455 A G FGD4 Synonymous SNV K579K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.619 244513 chr9 94519706 94519706 T G ROR2 Nonsynonymous SNV Q104P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 244514 chr9 95477552 95477552 T C rs200341779 BICD2 Nonsynonymous SNV K818E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.9 244515 chr18 72343665 72343665 A G ZNF407 Synonymous SNV L230L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.015 244516 chr17 61497692 61497692 G A rs370919725 TANC2 Nonsynonymous SNV R1450Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 244517 chr18 74207693 74207693 C T rs920172468 C18orf65 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.7 244518 chr12 41312493 41312493 T C rs61754100 CNTN1 Synonymous SNV N38N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.074 244519 chr16 3658880 3658880 C T rs149117119 SLX4 Nonsynonymous SNV R29H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.517 244520 chr2 179633439 179633439 C A rs756542210 TTN Nonsynonymous SNV A2996S 0.003 0 0 0 3 0 0 0 0 0 0 0 23 244521 chr16 89235401 89235401 C T rs117156175 LINC02138 0 0 0.007 0 0 0 0 2 0 0 0 0 3.783 244522 chr16 89293518 89293518 G A ZNF778 Nonsynonymous SNV M246I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 244523 chr19 23545111 23545111 T C rs751528872 ZNF91 Nonsynonymous SNV T192A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.53 244524 chr17 10216032 10216032 C T rs747355746 MYH13 Synonymous SNV T1408T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.71 244525 chr12 49364277 49364277 C T rs373412829 WNT10B Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 244526 chr17 11502116 11502116 - T rs773305837 DNAH9 Frameshift insertion L104Pfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 244527 chr17 68128912 68128912 A T rs772716001 KCNJ16 Nonsynonymous SNV E263D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 244528 chr17 72350352 72350352 G A rs575641456 KIF19 Nonsynonymous SNV R787Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 244529 chr7 106508579 106508579 C T PIK3CG Synonymous SNV R191R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.569 244530 chr2 207575295 207575295 A G rs770968709 DYTN Nonsynonymous SNV I16T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 244531 chr16 67235524 67235524 G A rs779904982 ELMO3 Synonymous SNV T299T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.425 244532 chr17 2577526 2577526 A G rs752776848 PAFAH1B1 Nonsynonymous SNV I282V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.974 244533 chr12 55794977 55794977 C T rs768482538 OR6C65 Nonsynonymous SNV T222I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 244534 chr9 127167675 127167675 C A PSMB7 Synonymous SNV G144G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.67 244535 chr8 22459504 22459504 C T rs149466621 C8orf58 Nonsynonymous SNV S226L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 244536 chr12 57578876 57578876 C T rs761186365 LRP1 Synonymous SNV N2117N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.23 244537 chr17 30469471 30469482 CCGCCGCCGCCG - LOC105371730 0 0 0.007 0 0 0 0 2 0 0 1 0 244538 chr2 223553177 223553180 GGAG - MOGAT1 R70Nfs*43 0.002 0 0 0 2 0 0 0 0 0 0 0 244539 chr2 223553181 223553181 A C MOGAT1 Nonsynonymous SNV R71S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 244540 chr17 34236337 34236337 A T LRRC37A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.589 244541 chr17 34257723 34257723 C G rs374308964 RDM1 Nonsynonymous SNV E3D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.591 244542 chr16 774193 774193 G T rs148595483 CCDC78 Nonsynonymous SNV N322K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.928 244543 chr12 66788088 66788088 T G GRIP1 Nonsynonymous SNV K625Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20 244544 chr12 6709383 6709383 G A rs761570351 CHD4 Synonymous SNV C407C 0.003 0 0 0 3 0 0 0 0 0 0 0 12.62 244545 chr9 135554381 135554381 T C rs775131333 GTF3C4 Synonymous SNV L459L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.119 244546 chr17 79782428 79782428 C T MCRIP1 Synonymous SNV R6R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 244547 chr17 38499171 38499171 G T rs371890185 RARA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.663 244548 chr9 136384001 136384001 T G MYMK Nonsynonymous SNV K132Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 244549 chr17 38906817 38906817 G A KRT25 Synonymous SNV T330T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 244550 chr7 154774999 154774999 A T rs749879690 PAXIP1 Nonsynonymous SNV F123Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 244551 chr17 80443410 80443410 G A rs142485195 NARF Nonsynonymous SNV G289R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 244552 chr16 84651147 84651147 C T COTL1 Synonymous SNV E40E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.28 244553 chr9 139311456 139311456 C T rs148692854 PMPCA Synonymous SNV N98N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 244554 chr12 8075438 8075438 T A rs143309443 SLC2A3 Synonymous SNV G417G 0.003 0 0 0 3 0 0 0 0 0 0 0 9.054 244555 chr19 30433538 30433538 G A URI1 Synonymous SNV P28P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.303 244556 chr12 8212536 8212536 C A rs372993031 C3AR1 Nonsynonymous SNV L82F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 244557 chr12 85521699 85521699 C G LRRIQ1 Nonsynonymous SNV T1366R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.09 244558 chr18 10855551 10855551 C T rs8085615 PIEZO2 Synonymous SNV P239P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 18.62 244559 chr2 241531476 241531476 G T rs781528296 CAPN10 Nonsynonymous SNV R199S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 244560 chr17 40039467 40039467 A C rs79062040 ACLY Nonsynonymous SNV Y769D 0.001 0 0.01 0 1 0 0 3 0 0 0 0 33 244561 chr17 40282486 40282486 C T rs144263947 RAB5C Nonsynonymous SNV G12E 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 244562 chr17 45044053 45044053 G A rs866802744 GOSR2 Stop gain W246X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 244563 chr17 4586161 4586161 G A rs762848321 PELP1 Synonymous SNV F169F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 244564 chr18 34415328 34415328 G A rs910690307 KIAA1328 Nonsynonymous SNV V76I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 244565 chr19 3760215 3760215 C T rs200523433 APBA3 Nonsynonymous SNV M16I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.39 244566 chr13 110434870 110434870 C T rs962244862 IRS2 Synonymous SNV V1177V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.385 244567 chr19 37733746 37733746 G A rs770181072 ZNF383 Nonsynonymous SNV C203Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 244568 chr10 13222503 13222503 C T rs751840247 MCM10 Synonymous SNV L276L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.82 244569 chr17 48155469 48155469 G A rs773294963 ITGA3 Synonymous SNV Q733Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 244570 chr19 38817983 38817983 G A rs1034099967 KCNK6 Synonymous SNV P294P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.507 244571 chr17 48603323 48603323 G A MYCBPAP Nonsynonymous SNV A637T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.865 244572 chr17 48649300 48649300 G A rs755768954 CACNA1G Synonymous SNV L216L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 244573 chr13 21563165 21563165 G T LATS2 Nonsynonymous SNV H252N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 244574 chr17 48917663 48917663 C T rs201260988 WFIKKN2 Synonymous SNV G245G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.736 244575 chr13 25887086 25887086 T A rs140895987 NUP58 Nonsynonymous SNV S106T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 244576 chr13 28136773 28136773 C T rs1042027985 LNX2 Nonsynonymous SNV R334Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 244577 chr2 44428782 44428782 C T rs191533809 PPM1B Synonymous SNV N148N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Likely benign 9.688 244578 chr19 42355704 42355704 C T DMRTC2 Synonymous SNV S348S 0 0.005 0 0 0 2 0 0 0 0 0 0 15.18 244579 chr2 48809338 48809338 T G rs756968195 STON1, STON1-GTF2A1L Nonsynonymous SNV N522K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.001 244580 chr17 61838306 61838306 C T rs377741518 CCDC47 Nonsynonymous SNV A235T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 244581 chr17 27052966 27052966 G A rs772361503 TLCD1 Synonymous SNV V50V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.99 244582 chr17 6943206 6943206 C T rs140636283 SLC16A13 Synonymous SNV S402S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 244583 chr2 73438037 73438037 G A rs192237334 NOTO Nonsynonymous SNV E246K 0.009 0.003 0.003 1 11 1 0.003 1 0 0 0 0 21.5 244584 chr8 103317422 103317422 C T rs143820445 UBR5 Synonymous SNV Q906Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 244585 chr19 4511366 4511366 A T PLIN4 Nonsynonymous SNV V869E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 244586 chr17 72301474 72301474 C T rs1021470707 DNAI2 Synonymous SNV Y368Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.67 244587 chr17 72348067 72348067 T C rs113828430 KIF19 Nonsynonymous SNV L550P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 244588 chr14 101348596 101348596 A G RTL1 Nonsynonymous SNV Y844H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 244589 chr17 73625509 73625509 G A rs201916143 RECQL5 Nonsynonymous SNV P665L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.078 244590 chr14 103355963 103355963 G A rs200118821 TRAF3 Nonsynonymous SNV V240I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 19.52 244591 chr17 73886954 73886954 G C rs146962670 TRIM65 Nonsynonymous SNV P465R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 244592 chr17 73944473 73944473 C A rs79605652 ACOX1 Synonymous SNV L560L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.32 244593 chr14 103599744 103599744 A G rs367868359 TNFAIP2 Nonsynonymous SNV I531V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.08 244594 chr19 55708709 55708709 C G rs767906531 PTPRH Nonsynonymous SNV G411A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 244595 chr17 7536587 7536587 G A rs138612626 SHBG Nonsynonymous SNV D261N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 244596 chr17 75878458 75878458 T C rs117396405 LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 244597 chr19 49164982 49164982 G A rs760971006 NTN5 Synonymous SNV G474G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.271 244598 chr19 49167858 49167858 G T NTN5 Synonymous SNV I266I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 7.21 244599 chr19 1483902 1483904 ACC - PCSK4 V403del 0.001 0 0 0 1 0 0 0 0 0 0 0 244600 chr19 56465982 56465982 G A rs149337413 NLRP8 Synonymous SNV E186E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.81 244601 chr19 56544101 56544101 C T NLRP5 Synonymous SNV L801L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.695 244602 chr19 49438361 49438361 G A rs753654642 DHDH Synonymous SNV P65P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.61 244603 chr10 95394638 95394638 G A rs780401922 PDE6C Nonsynonymous SNV D415N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 244604 chr17 78093115 78093115 C T rs774656713 GAA Synonymous SNV L948L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 244605 chr14 21058608 21058608 G A rs189334969 RNASE12 Nonsynonymous SNV S92L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 244606 chr17 7819121 7819121 C T rs114450428 RNF227 Synonymous SNV A131A 0 0 0.01 0 0 0 0 3 0 0 0 0 4.978 244607 chr17 7819247 7819247 G T rs75956932 RNF227 Synonymous SNV G89G 0 0 0.007 0 0 0 0 2 0 0 0 0 3.992 244608 chr17 78269534 78269534 T G RNF213 Nonsynonymous SNV C645G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 244609 chr3 113658818 113658818 C T rs749133112 GRAMD1C Nonsynonymous SNV R388C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 244610 chr11 64974282 64974282 C T rs150244086 CAPN1 Nonsynonymous SNV P533S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 244611 chr17 7912879 7912879 C T rs28743021 GUCY2D Nonsynonymous SNV P575L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 25.1 244612 chr19 50918729 50918729 G A rs367680864 POLD1 Nonsynonymous SNV V893I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.96 244613 chr9 14824862 14824862 A T FREM1 Nonsynonymous SNV D670E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 244614 chr11 66029437 66029437 C A KLC2 Synonymous SNV S151S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.84 244615 chr9 20414298 20414298 A G rs143254940 MLLT3 Synonymous SNV S179S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.165 244616 chr9 21385159 21385159 T C rs73420190 IFNA2 Nonsynonymous SNV H57R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.004 244617 chr14 24842913 24842913 G A NFATC4 Synonymous SNV A524A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 244618 chr10 104486819 104486819 C T rs779270927 SFXN2 Synonymous SNV H79H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 244619 chr17 8791675 8791675 G A rs774252675 PIK3R5 Nonsynonymous SNV R91C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 244620 chr8 145999546 145999546 C G ZNF34 Nonsynonymous SNV S223T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 244621 chr17 9725086 9725086 G A rs549715077 GSG1L2 Synonymous SNV N101N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.991 244622 chr14 31817053 31817053 T C rs753369167 HEATR5A Synonymous SNV L923L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.708 244623 chr18 12794309 12794309 A T rs748317104 PTPN2 Nonsynonymous SNV W377R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 244624 chr10 112572197 112572197 A G rs372048968 RBM20 Nonsynonymous SNV Y681C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 244625 chr19 20229025 20229025 G T rs370810295 ZNF90 Nonsynonymous SNV R221I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.566 244626 chr3 129303006 129303006 G A rs368260922 PLXND1 Synonymous SNV Y700Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.917 244627 chr18 31319970 31319970 G A rs767340081 ASXL3 Nonsynonymous SNV V868I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 244628 chr18 31326207 31326207 A C rs371396698 ASXL3 Nonsynonymous SNV K2132T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 244629 chr14 58605804 58605804 C T ARMH4 Synonymous SNV S91S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.921 244630 chr3 135720636 135720636 G A rs750422274 PPP2R3A Nonsynonymous SNV R99K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 244631 chr18 44266172 44266172 G A rs143784819 ST8SIA5 Synonymous SNV C147C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 244632 chr19 55512174 55512174 G T NLRP2 Stop gain E1011X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 244633 chr9 37442194 37442194 A G rs767105528 ZBTB5 Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.216 244634 chr19 55591897 55591897 C A EPS8L1 Nonsynonymous SNV S12R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.49 244635 chr14 62212486 62212486 T C rs149019950 HIF1A Synonymous SNV S784S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.78 244636 chr18 56056337 56056337 T C NEDD4L Synonymous SNV G715G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.167 244637 chr14 68249531 68249531 T A rs765803190 ZFYVE26 Synonymous SNV I1446I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.342 244638 chr18 662312 662312 T C TYMS Nonsynonymous SNV M149T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.258 244639 chr3 158386891 158386891 G A rs59718588 LXN Nonsynonymous SNV T134M 0.003 0 0 0 3 0 0 0 0 0 0 0 13.04 244640 chr11 9838534 9838534 G C rs139522696 SBF2 Nonsynonymous SNV I1277M 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 19.44 244641 chr18 76757080 76757080 A C rs781275254 SALL3 Nonsynonymous SNV N1221H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 244642 chr18 77918419 77918419 A T PARD6G Synonymous SNV R122R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 244643 chr18 8784717 8784717 T C rs143118025 MTCL1 Nonsynonymous SNV I536T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.528 244644 chr14 79181420 79181420 G T NRXN3 Nonsynonymous SNV G288V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 244645 chr3 180669113 180669113 C T FXR1 Nonsynonymous SNV H220Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23 244646 chr14 92439151 92439151 G T rs148261539 TRIP11 Nonsynonymous SNV P1876T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.9 244647 chr3 184801186 184801186 G A rs750491088 C3orf70 Nonsynonymous SNV P121L 0.003 0 0 0 3 0 0 0 0 0 0 0 31 244648 chr12 108936826 108936826 T G SART3 Nonsynonymous SNV Y295S 0 0 0 2 0 0 0.005 0 0 0 0 0 20.2 244649 chr19 10961129 10961129 G A rs768742925 C19orf38 Nonsynonymous SNV G76S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.5 244650 chr19 1122671 1122671 C G rs1052610536 SBNO2 Synonymous SNV R243R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.422 244651 chr19 14288540 14288540 C G rs903412694 ADGRL1 Synonymous SNV G29G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 244652 chr19 14582530 14582530 G A rs572834898 PKN1 Synonymous SNV A921A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.379 244653 chr19 897519 897519 C T rs61745572 R3HDM4 Nonsynonymous SNV R242Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 25.5 244654 chr19 15133682 15133682 G C CCDC105 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 244655 chr10 100167357 100167357 G A rs147109339 PYROXD2 Synonymous SNV Y99Y 0.002 0.003 0.003 1 2 1 0.003 1 1 0 0 0 6.11 244656 chr19 15636256 15636256 C T rs200883622 CYP4F22 Nonsynonymous SNV R37C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 244657 chr17 76803620 76803620 G A rs201659148 USP36 Synonymous SNV N502N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.962 244658 chr3 33134932 33134932 G A rs145702176 TMPPE Synonymous SNV A252A 0.003 0 0 0 3 0 0 0 0 0 0 0 2.272 244659 chr10 103990421 103990421 G C PITX3 Synonymous SNV P253P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.791 244660 chr19 16646343 16646343 C T rs199553205 CHERP Nonsynonymous SNV A102T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 244661 chr10 105138089 105138089 G A TAF5 Nonsynonymous SNV D299N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.81 244662 chr15 41769401 41769401 A T rs778982983 RTF1 Nonsynonymous SNV K533N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 244663 chr10 106025864 106025864 C T rs116993524 GSTO1 Nonsynonymous SNV T130I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.59 244664 chr15 42160634 42160634 - CCCCCC rs753743823 SPTBN5 G2006_Q2007insGG 0.001 0 0.003 0 1 0 0 1 0 0 0 0 244665 chr12 13208546 13208546 C T rs142634999 FAM234B Synonymous SNV S33S 0 0 0 3 0 0 0.008 0 0 0 0 0 10.93 244666 chr10 117059645 117059645 C T rs782264447 ATRNL1 Synonymous SNV G839G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.49 244667 chr19 18976527 18976527 C T rs142907537 UPF1 Synonymous SNV I1070I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 244668 chr1 10384896 10384896 C T rs121908162 KIF1B Nonsynonymous SNV T827I 0.004 0.008 0 0 5 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.56 244669 chr15 44888284 44888284 G A SPG11 Synonymous SNV L1477L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.086 244670 chr1 108247636 108247636 T C VAV3 Nonsynonymous SNV K517R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.8 244671 chr3 46244895 46244895 C T rs199658624 CCR1 Nonsynonymous SNV V304I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.06 244672 chr15 48779530 48779530 G C rs140598 FBN1 Nonsynonymous SNV P1148A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.7 244673 chr19 24345696 24345696 G A HAVCR1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.294 244674 chr15 55929490 55929490 T C PRTG Nonsynonymous SNV D834G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 244675 chr19 31769146 31769146 C G rs367983553 TSHZ3 Nonsynonymous SNV G518A 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 244676 chr19 49573710 49573710 G A rs41275776 KCNA7 Synonymous SNV S327S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.799 244677 chr1 118483541 118483541 A G WDR3 Nonsynonymous SNV E256G 0 0.005 0 0 0 2 0 0 0 0 0 0 10.19 244678 chr19 35504555 35504555 C T rs751030324 GRAMD1A Nonsynonymous SNV T270M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 244679 chr19 35642367 35642367 C T rs138712887 FXYD7 Nonsynonymous SNV A54V 0 0 0.01 0 0 0 0 3 0 0 0 0 24 244680 chr15 65959868 65959868 T C rs199699639 DENND4A Synonymous SNV V1676V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.508 244681 chr1 12837169 12837169 C T rs187712933 PRAMEF12 Synonymous SNV P293P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.81 244682 chr11 8118858 8118858 G A TUB Synonymous SNV R257R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.91 244683 chr12 47471980 47471980 G A rs145725599 AMIGO2 Nonsynonymous SNV S269L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.06 244684 chr19 36536737 36536737 A G rs759676507 LOC101927572 Nonsynonymous SNV E109G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.017 244685 chr1 150234562 150234562 C T rs188993505 CA14 Nonsynonymous SNV L88F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 244686 chr3 65367689 65367689 C G rs201936743 MAGI1 Nonsynonymous SNV R855T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 31 244687 chr1 151502589 151502589 G A rs41272459 CGN Nonsynonymous SNV E771K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 27.4 244688 chr15 75185133 75185133 C T MPI Synonymous SNV T109T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 244689 chr19 37618286 37618286 A G rs145699727 ZNF420 Synonymous SNV R131R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 244690 chr19 38103485 38103485 G T rs377668016 ZNF540 Nonsynonymous SNV G403V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 244691 chr12 51584249 51584249 G A rs755891944 POU6F1 Synonymous SNV G539G 0 0 0 2 0 0 0.005 0 0 0 0 0 11.84 244692 chr19 39881469 39881469 C T PAF1 Synonymous SNV E12E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 244693 chr12 52713087 52713087 C T rs533080987 KRT83 Nonsynonymous SNV R149H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 244694 chr3 98311954 98311954 G A rs147219463 CPOX Nonsynonymous SNV A132V 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 244695 chr18 6032256 6032256 A T rs111748585 L3MBTL4 Nonsynonymous SNV M488K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.296 244696 chr1 155029709 155029709 G T rs139438555 ADAM15 Synonymous SNV L408L 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 9.936 244697 chr15 83345333 83345333 G T AP3B2 Synonymous SNV V483V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.051 244698 chr10 46999290 46999290 G A rs201537628 GPRIN2 Nonsynonymous SNV R137Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 244699 chr19 54967522 54967522 C T rs199822118 LENG8 Synonymous SNV S441S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.26 244700 chr1 158627462 158627462 C T rs776338491 SPTA1 Synonymous SNV V870V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.44 244701 chr1 159409979 159409979 T G rs74564875 OR10J1 Nonsynonymous SNV M133R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 244702 chr15 90281332 90281332 A G WDR93 Nonsynonymous SNV Y581C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 244703 chr19 44680253 44680253 C G rs371095140 ZNF226 Nonsynonymous SNV L280V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.019 244704 chr1 159796701 159796701 C A rs2494514 SLAMF8 Nonsynonymous SNV P5T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.342 244705 chr10 46999909 46999909 G A rs138030134 GPRIN2 Synonymous SNV A343A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.87 244706 chr10 60588560 60588560 A G rs7895817 BICC1 Nonsynonymous SNV N945S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.326 244707 chr1 160769652 160769652 C T rs142988998 LY9 Synonymous SNV V78V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.459 244708 chr19 45797693 45797693 A G rs959085024 MARK4 Synonymous SNV P527P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.472 244709 chr19 46260497 46260497 C T rs983551571 BHMG1 Nonsynonymous SNV P325L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 244710 chr19 5687516 5687516 C T rs200160626 HSD11B1L Nonsynonymous SNV P57L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 34 244711 chr19 47280631 47280631 C T rs748712989 SLC1A5 Nonsynonymous SNV V162M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 244712 chr4 146044229 146044229 A G rs767842601 ABCE1 Synonymous SNV Q440Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.303 244713 chr1 203767831 203767831 C T ZBED6 Nonsynonymous SNV A394V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 244714 chr16 1412483 1412483 G A rs139997459 GNPTG Nonsynonymous SNV R186Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 8.206 244715 chr10 73375284 73375284 C T rs727502918 CDH23 Synonymous SNV L286L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 15.5 244716 chr19 48923067 48923067 G A GRIN2D Nonsynonymous SNV R696H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 244717 chr10 75138692 75138692 G A rs376226180 ANXA7 Nonsynonymous SNV R379W 0 0 0 3 0 0 0.008 0 0 0 0 0 33 244718 chr19 11446354 11446354 C T rs771617294 RAB3D Nonsynonymous SNV A112T 0.002 0 0 0 2 0 0 0 0 0 0 0 34 244719 chr19 12297828 12297828 G A rs370384772 ZNF136 Nonsynonymous SNV R146Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.18 244720 chr19 49342514 49342514 C T rs139046967 PLEKHA4 Nonsynonymous SNV V638I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 244721 chr1 207109005 207109005 C T rs202022300 PIGR Nonsynonymous SNV E402K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 244722 chr1 207110653 207110653 T A rs764279486 PIGR Nonsynonymous SNV N278Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 244723 chr1 17599930 17599930 C A rs200523725 PADI3 Stop gain Y381X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 244724 chr16 2030986 2030986 C T rs774842697 NOXO1 Nonsynonymous SNV S34N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.56 244725 chr1 176833504 176833504 C T rs370985781 ASTN1 Synonymous SNV E1275E 0 0.005 0 0 0 2 0 0 0 0 0 0 14.32 244726 chr1 214171507 214171507 G A PROX1 Synonymous SNV P543P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.17 244727 chr19 7755105 7755105 A C FCER2 Nonsynonymous SNV L222R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 244728 chr16 23634322 23634322 T C rs777244673 PALB2 Synonymous SNV Q988Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.132 244729 chr16 27238129 27238129 C T rs376178703 NSMCE1 Nonsynonymous SNV R171Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 244730 chr10 90966725 90966725 G A rs201617007 CH25H Nonsynonymous SNV R109C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.87 244731 chr16 28842334 28842334 C G rs371700809 ATXN2L Nonsynonymous SNV T421S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 244732 chr10 93600437 93600437 A C TNKS2 Synonymous SNV G549G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.371 244733 chr19 52826051 52826051 T A rs201703428 ZNF480 Stop gain C473X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 244734 chr1 222803002 222803002 C T rs186697730 MIA3 Nonsynonymous SNV R814C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 244735 chr4 2958493 2958493 C T rs777356082 NOP14 Nonsynonymous SNV E126K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 244736 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQ 0.001 0.005 0 0 1 2 0 0 0 0 0 0 244737 chr19 53716665 53716665 G A rs144977310 ZNF818P 0 0 0.01 0 0 0 0 3 0 0 0 0 6.767 244738 chr19 18288678 18288678 G C rs779256288 IFI30 Nonsynonymous SNV C237S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 244739 chr4 39104989 39104989 C T rs200140121 KLHL5 Synonymous SNV F446F 0.002 0 0 2 2 0 0.005 0 0 0 0 0 18.66 244740 chr19 18368664 18368664 G A IQCN Stop gain Q1144X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 244741 chr1 228404818 228404818 G T rs200638282 OBSCN Nonsynonymous SNV V828L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 244742 chr16 4797437 4797437 G A rs151153820 C16orf71 Synonymous SNV A458A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.348 244743 chr13 23911920 23911920 G A rs551141655 SACS Nonsynonymous SNV S1885L 0 0 0 2 0 0 0.005 0 0 0 0 0 15.91 244744 chr13 23912304 23912304 G C rs758570844 SACS Nonsynonymous SNV T1757R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.3 244745 chr16 49670785 49670785 G A rs764927116 ZNF423 Nonsynonymous SNV R643C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.7 244746 chr16 50100421 50100421 C G HEATR3 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 244747 chr16 50348275 50348275 G A rs139814392 ADCY7 Nonsynonymous SNV G977S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 244748 chr1 202715288 202715288 G A rs144876400 KDM5B Nonsynonymous SNV P682L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.8 244749 chr19 22000726 22000726 G A rs777417618 ZNF43 Nonsynonymous SNV P74S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 244750 chr1 205312412 205312412 C T rs763430997 KLHDC8A Stop gain W107X 0 0.005 0 0 0 2 0 0 0 0 0 0 39 244751 chr11 102984419 102984419 G A rs747976646 DYNC2H1 Nonsynonymous SNV A117T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.6 244752 chr19 56701872 56701872 G A ZSCAN5B Nonsynonymous SNV P271L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.899 244753 chr19 57335793 57335793 C T rs760648993 PEG3 Synonymous SNV P77P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 244754 chr19 32873909 32873909 G A rs767864955 ZNF507 Nonsynonymous SNV D928N 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 244755 chr19 57641440 57641440 C G rs137993626 USP29 Nonsynonymous SNV P466R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 244756 chr4 73935462 73935462 G A COX18 Synonymous SNV P5P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.688 244757 chr16 68100284 68100284 C T rs560287191 DUS2 Nonsynonymous SNV S126L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 244758 chr19 58549416 58549416 C T ZSCAN1 Nonsynonymous SNV A71V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 244759 chr1 215781472 215781472 G A rs147195597 KCTD3 Nonsynonymous SNV E475K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.1 244760 chr1 245021547 245021547 C A rs201637304 HNRNPU Synonymous SNV S401S 0.003 0.008 0 0 3 3 0 0 0 0 0 0 19.21 244761 chr4 7705994 7705994 C T rs140414257 SORCS2 Synonymous SNV D617D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12 244762 chr19 58926908 58926908 T G ZNF584 Nonsynonymous SNV S55A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.257 244763 chr4 7787966 7787966 G A rs775520237 AFAP1 Synonymous SNV S495S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.68 244764 chr16 71318492 71318492 A G rs139275656 CMTR2 Synonymous SNV Y444Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.013 244765 chr1 22222779 22222779 C A HSPG2 Nonsynonymous SNV D30Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 244766 chr1 223177972 223177972 G A rs150111973 DISP1 Nonsynonymous SNV R1078H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 27.6 244767 chr19 7006104 7006104 A G rs574062364 FLJ25758 0 0 0.003 0 0 0 0 1 0 0 0 0 0.325 244768 chr1 2235415 2235415 A G SKI Nonsynonymous SNV T450A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 0.001 244769 chr4 8229927 8229927 G A rs140746956 SH3TC1 Nonsynonymous SNV V760M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 244770 chr4 8238009 8238009 G A rs138103889 SH3TC1 Nonsynonymous SNV R1061Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 22.2 244771 chr19 757590 757590 C T rs900655039 MISP Nonsynonymous SNV P215L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.389 244772 chr1 1219401 1219401 C T rs201680784 SCNN1D Nonsynonymous SNV P132L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 244773 chr10 135184189 135184189 C T rs375266808 ECHS1 Nonsynonymous SNV R54H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Pathogenic 34 244774 chr1 228431135 228431135 G T rs937807633 OBSCN Nonsynonymous SNV V1061F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.33 244775 chr4 89317170 89317170 G A rs756759258 HERC6 Nonsynonymous SNV G255R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29 244776 chr1 149859113 149859113 G T rs150148333 H2AC21 Synonymous SNV P118P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.547 244777 chr11 1255868 1255868 C T rs916166425 MUC5B Nonsynonymous SNV T863I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.954 244778 chr1 22928124 22928124 G A rs148692719 EPHA8 Nonsynonymous SNV V970M 0.001 0.008 0 0 1 3 0 0 0 0 0 0 23.4 244779 chr1 233515209 233515209 T C rs142593417 MAP3K21 Synonymous SNV D819D 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 0.107 244780 chr11 130284496 130284496 G A rs373125600 ADAMTS8 Nonsynonymous SNV T499M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 244781 chr11 130319363 130319363 G A rs775213753 ADAMTS15 Synonymous SNV G165G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.402 244782 chr5 112917269 112917269 A G rs374406127 YTHDC2 Synonymous SNV Q870Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.838 244783 chr11 133790276 133790276 G A rs201459911 IGSF9B Nonsynonymous SNV A1115V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.328 244784 chr11 134062586 134062586 C T rs781026682 NCAPD3 Synonymous SNV L543L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.913 244785 chr1 3431182 3431182 A G rs748411730 MEGF6 Nonsynonymous SNV V262A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.005 244786 chr19 9967573 9967573 G A rs139401452 OLFM2 Synonymous SNV T121T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.74 244787 chr14 23512200 23512200 C G PSMB11 Nonsynonymous SNV P256A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 244788 chr16 89782976 89782976 C T rs191271054 VPS9D1 Nonsynonymous SNV G109S 0.001 0.003 0.014 0 1 1 0 4 0 0 0 0 6.272 244789 chr1 158914683 158914683 C T PYHIN1 Stop gain Q404X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 244790 chr1 113266599 113266599 G C rs147603479 TAFA3 Nonsynonymous SNV D100H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.653 244791 chr17 1479917 1479917 C T SLC43A2 Nonsynonymous SNV G371S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 244792 chr11 20699524 20699524 C T rs140148541 NELL1 Synonymous SNV T34T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 244793 chr1 160251877 160251877 T C rs138837673 PEX19 Synonymous SNV L182L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.479 244794 chr1 161976214 161976214 A T OLFML2B Nonsynonymous SNV M199K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 244795 chr5 140810716 140810716 G A rs150692324 PCDHGA12 Synonymous SNV A130A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.435 244796 chr1 28887859 28887859 C T rs771703704 TRNAU1AP Nonsynonymous SNV A76V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.4 244797 chr1 150201478 150201478 C T rs144939904 ANP32E Synonymous SNV Q99Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 12.84 244798 chr11 4661220 4661220 G A rs138099428 OR51D1 Nonsynonymous SNV R67Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.81 244799 chr17 26708616 26708616 C T SARM1 Nonsynonymous SNV R288C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 244800 chr1 176993764 176993764 C T rs556443561 ASTN1 Nonsynonymous SNV V409I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 244801 chr1 153907306 153907306 T C rs2275483 DENND4B Synonymous SNV Q912Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.487 244802 chr1 153916821 153916821 C T rs372779027 DENND4B Synonymous SNV V21V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 244803 chr14 65240015 65240015 C T rs369208136 SPTB Nonsynonymous SNV D1701N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.9 244804 chr12 272668 272668 C T rs781785397 IQSEC3 Synonymous SNV S561S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 244805 chr12 2921777 2921777 T C ITFG2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 4.229 244806 chr17 3628493 3628493 A G rs7223226 HASPIN Nonsynonymous SNV N422D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 244807 chr17 3773125 3773125 G C rs147240137 CAMKK1 Synonymous SNV P394P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.705 244808 chr5 175916021 175916021 A G rs774634955 FAF2 Nonsynonymous SNV I113V 0.003 0 0 2 4 0 0.005 0 0 0 0 0 18.02 244809 chr5 176721514 176721514 C T rs148027433 NSD1 Nonsynonymous SNV T2382I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 18.2 244810 chr17 38324510 38324510 C A rs755202115 CASC3 Nonsynonymous SNV P602Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 244811 chr1 47138709 47138709 T G TEX38 Nonsynonymous SNV W68G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.8 244812 chr1 201038651 201038651 G A rs376863448 CACNA1S Synonymous SNV S813S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.56 244813 chr14 91948303 91948303 G A rs200456384 PPP4R3A Nonsynonymous SNV H178Y 0 0 0 2 0 0 0.005 0 0 0 0 0 23 244814 chr1 47904894 47904894 G A rs561988766 FOXD2 Nonsynonymous SNV A363T 0 0.005 0 0 0 2 0 0 0 0 0 0 17.33 244815 chr5 178416278 178416278 G A rs772521795 GRM6 Nonsynonymous SNV R381C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 244816 chr1 162560209 162560209 G A rs61743694 UAP1 Synonymous SNV R422R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.24 244817 chr14 94079150 94079150 A G UNC79 Synonymous SNV Q1254Q 0 0 0 2 0 0 0.005 0 0 0 0 0 1.042 244818 chr1 54433489 54433492 AAAG - LRRC42 K389Rfs*36 0 0.003 0 0 0 1 0 0 0 0 0 0 244819 chr1 54683919 54683919 G A rs139672507 MRPL37 Synonymous SNV A423A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 10.79 244820 chr5 180166834 180166834 G T rs61737915 OR2Y1 Synonymous SNV T75T 0.003 0 0.01 3 3 0 0.008 3 0 0 0 0 0.018 244821 chr1 55080475 55080475 C T rs150113940 FAM151A Nonsynonymous SNV R158Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23 244822 chr1 55166856 55166856 G A rs377123183 MROH7 Nonsynonymous SNV G567D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.6 244823 chr1 168066185 168066185 G C rs201970960 GPR161 Synonymous SNV R142R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.22 244824 chr17 39658664 39658664 G A rs751138953 KRT13 Synonymous SNV I402I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.36 244825 chr12 29650572 29650572 G A rs773277161 OVCH1 Synonymous SNV G16G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.077 244826 chr5 476420 476420 C T rs377627891 SLC9A3 Nonsynonymous SNV R646K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 244827 chr1 67436618 67436618 A C rs115270426 MIER1 Synonymous SNV G247G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.378 244828 chr1 70781218 70781218 T C ANKRD13C Synonymous SNV Q203Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.251 244829 chr1 182026104 182026104 A C rs139638702 ZNF648 Nonsynonymous SNV S348A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 244830 chr19 57036304 57036304 T C ZNF471 Nonsynonymous SNV Y216H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.8 244831 chr1 183090928 183090928 G A LAMC1 Synonymous SNV V687V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 244832 chr11 44072946 44072946 C T rs760056470 ACCSL Nonsynonymous SNV P233S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 244833 chr1 7724661 7724661 C T rs368013673 CAMTA1 Nonsynonymous SNV T655M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.51 244834 chr1 183105692 183105692 C T rs556295204 LAMC1 Nonsynonymous SNV A1429V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 244835 chr1 186276866 186276866 C T rs147683837 PRG4 Nonsynonymous SNV A538V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.11 244836 chr1 186280588 186280588 G A rs201785504 PRG4 Nonsynonymous SNV R1084H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 244837 chr1 1891449 1891450 AG - rs773892565 CFAP74 L572Vfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 244838 chr1 197391061 197391061 C G rs144436610 CRB1 Synonymous SNV P589P 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 3.243 244839 chr15 60297437 60297437 G A rs765331905 FOXB1 Nonsynonymous SNV S92N 0 0 0 2 0 0 0.005 0 0 0 0 0 18.26 244840 chr1 205028382 205028382 G A rs758068126 CNTN2 Nonsynonymous SNV V220I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 244841 chr20 45132983 45132983 T C rs374239816 ZNF334 Synonymous SNV Q32Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.72 244842 chr19 7987428 7987428 C T rs116635738 SNAPC2 Nonsynonymous SNV R262C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.8 244843 chr15 65298458 65298458 G A rs202082622 MTFMT Synonymous SNV V295V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 7.73 244844 chr17 64222200 64222200 A G APOH Nonsynonymous SNV V95A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 244845 chr15 73552790 73552790 C T rs764077519 NEO1 Synonymous SNV Y794Y 0 0 0 2 0 0 0.005 0 0 0 0 0 9.592 244846 chr11 62334364 62334364 A G rs199610030 EEF1G Synonymous SNV P257P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.634 244847 chr1 216462642 216462642 C T USH2A Nonsynonymous SNV G651S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 244848 chr1 22172954 22172954 G A HSPG2 Nonsynonymous SNV P2769L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 244849 chr15 77323535 77323535 A C rs139362350 PSTPIP1 Nonsynonymous SNV Q219H 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 23 244850 chr15 78566702 78566702 C T rs113791078 DNAJA4 Synonymous SNV C194C 0 0 0 2 0 0 0.005 0 0 0 0 0 15.31 244851 chr17 72367998 72367998 C T rs115408173 GPR142 Synonymous SNV L128L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.08 244852 chr20 31997974 31997974 G A rs373387978 SNTA1 Nonsynonymous SNV R402W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 34 244853 chr11 64954757 64954757 C T rs543604179 CAPN1 Synonymous SNV T277T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.9 244854 chr20 35431486 35431486 C T rs147601178 SOGA1 Nonsynonymous SNV A1038T 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 3.557 244855 chr20 7895057 7895057 G A HAO1 Nonsynonymous SNV S100F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 244856 chr20 37547042 37547042 G A rs762770453 PPP1R16B Synonymous SNV T437T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.03 244857 chr11 68197128 68197128 A G rs139554243 LRP5 Synonymous SNV P660P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 3.057 244858 chr1 241951320 241951322 ATA - rs763027641 WDR64 I959del 0 0 0.003 0 0 0 0 1 0 0 0 0 244859 chr1 3418479 3418479 G A rs756981059 MEGF6 Nonsynonymous SNV P732L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 244860 chr11 71668290 71668290 C T rs180995046 RNF121 Synonymous SNV L27L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 244861 chr6 158900962 158900962 C G rs199820718 TULP4 Synonymous SNV P402P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.61 244862 chr20 54978604 54978604 G A rs140557030 CSTF1 Nonsynonymous SNV E373K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 244863 chr11 72397200 72397200 C T rs2291288 ARAP1 Nonsynonymous SNV V1091M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.9 244864 chr20 56137901 56137901 G A rs11552146 PCK1 Nonsynonymous SNV D186N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.046 244865 chr20 5902989 5902989 G T rs147405530 CHGB Nonsynonymous SNV D67Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 244866 chr6 160494492 160494492 C T rs148177604 IGF2R Synonymous SNV C1646C 0.003 0 0 0 3 0 0 0 0 0 0 0 13.51 244867 chr1 1271580 1271580 C T rs376204834 DVL1 Nonsynonymous SNV R677H 0.003 0 0 0 3 0 0 0 0 0 0 0 29 244868 chr17 79660682 79660682 A G rs768456386 HGS 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 244869 chr16 20693743 20693743 T A rs200574024 ACSM1 Nonsynonymous SNV D149V 0 0 0 2 0 0 0.005 0 0 0 0 0 25 244870 chr1 248756314 248756314 A G rs758843051 OR2T10 Synonymous SNV Y252Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 244871 chr1 145533551 145533551 G C rs142042030 ITGA10 Nonsynonymous SNV Q335H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 244872 chr6 168315325 168315325 T C AFDN Nonsynonymous SNV Y713H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 244873 chr11 86152327 86152327 C T rs377472854 ME3 Synonymous SNV T603T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 244874 chr1 31349934 31349934 G A rs764498159 SDC3 Nonsynonymous SNV A112V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 244875 chr1 32050786 32050786 C T rs764938372 TINAGL1 Nonsynonymous SNV R267C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 244876 chr11 92534043 92534043 G T rs17615477 FAT3 Nonsynonymous SNV V2622F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 26.5 244877 chr20 896688 896688 G A rs144442482 ANGPT4 Nonsynonymous SNV P57L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 7.3 244878 chr16 31308971 31308971 G - rs772959879 ITGAM R500Gfs*25 0.001 0 0 2 1 0 0.005 0 0 0 0 0 244879 chr13 22069394 22069394 G C rs139691139 MICU2 Nonsynonymous SNV T369S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 244880 chr6 28120125 28120125 - A ZKSCAN8 Frameshift insertion N60Kfs*15 0.003 0 0 1 3 0 0.003 0 0 0 0 0 244881 chr6 28212933 28212933 A G rs200159390 ZKSCAN4 Synonymous SNV H378H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.69 244882 chr1 39325155 39325155 C G rs762473983 RRAGC Nonsynonymous SNV G55A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 244883 chr13 28794431 28794431 G A PAN3 Nonsynonymous SNV V306M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 244884 chr16 48385597 48385597 G A rs755154404 LONP2 Nonsynonymous SNV V771I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.25 244885 chr22 26317328 26317328 T C rs369223459 MYO18B Synonymous SNV D1824D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 1.519 244886 chr12 109644529 109644529 A T ACACB Synonymous SNV T976T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 244887 chr1 8420564 8420564 G A rs151126299 RERE Synonymous SNV P447P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.215 244888 chr21 46930068 46930068 G A rs755388454 COL18A1 Nonsynonymous SNV V1373M 0 0.005 0 0 0 2 0 0 0 0 0 0 16.85 244889 chr1 62120091 62120091 G A rs545086212 MGC34796 0 0 0.003 0 0 0 0 1 0 0 0 0 9.234 244890 chr1 62120567 62120567 T G MGC34796 0 0 0.003 0 0 0 0 1 0 0 0 0 5.319 244891 chr18 65178507 65178507 T C rs72954698 DSEL Nonsynonymous SNV I1113M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 244892 chr16 703358 703358 C T rs374649326 WDR90 Synonymous SNV D380D 0 0.005 0 3 0 2 0.008 0 0 0 0 0 10.39 244893 chr6 46839745 46839745 G C rs149458418 ADGRF5 Nonsynonymous SNV P416A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 244894 chr1 16263813 16263813 G C rs763691981 SPEN Synonymous SNV G3394G 0.003 0 0 0 3 0 0 0 0 0 0 0 4.489 244895 chr21 47704587 47704587 G C MCM3AP Stop gain S205X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 244896 chr16 722759 722759 C T rs200761692 RHOT2 Synonymous SNV D436D 0 0.005 0 3 0 2 0.008 0 0 0 0 0 10.2 244897 chr6 49663624 49663624 T C rs146991158 CRISP2 Nonsynonymous SNV N177D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.017 244898 chr12 123089951 123089951 A G rs755737986 KNTC1 Nonsynonymous SNV K1829E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.828 244899 chr6 52369427 52369427 G A rs199535862 TRAM2 Nonsynonymous SNV T334I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 4.334 244900 chr1 74665441 74665441 A C FPGT, FPGT-TNNI3K Nonsynonymous SNV E72A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 244901 chr1 7912992 7912992 A G rs145512502 UTS2 Synonymous SNV L24L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.822 244902 chr22 21107463 21107463 T C rs142927362 PI4KA Nonsynonymous SNV M911V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 244903 chr14 20404578 20404578 C T rs142429554 OR4K1 Synonymous SNV F251F 0 0.003 0 0 0 1 0 0 0 0 0 0 5.584 244904 chr1 86435955 86435955 C T rs766249152 COL24A1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 244905 chr14 20612158 20612158 G A rs28408764 OR4N5 Synonymous SNV E88E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.111 244906 chr14 20612267 20612267 G A rs74033809 OR4N5 Nonsynonymous SNV A125T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.4 244907 chr14 20612290 20612290 T C rs17308206 OR4N5 Synonymous SNV Y132Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 244908 chr14 20612465 20612465 A G rs10131326 OR4N5 Nonsynonymous SNV N191D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 244909 chr14 20612595 20612595 G C rs10140908 OR4N5 Nonsynonymous SNV S234T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.011 244910 chr14 20612605 20612605 T C rs10134379 OR4N5 Synonymous SNV I237I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.479 244911 chr14 20612672 20612672 T C rs10134472 OR4N5 Nonsynonymous SNV C260R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 244912 chr14 20612763 20612763 G A rs10141025 OR4N5 Nonsynonymous SNV R290H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 24 244913 chr12 132505816 132505816 C T rs771703326 EP400 Nonsynonymous SNV A1547V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.79 244914 chr11 134051068 134051068 C T rs146594556 NCAPD3 Synonymous SNV T683T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.54 244915 chr22 24584096 24584096 C - rs768201438 SUSD2 Q779Sfs*126 0.001 0.003 0 0 1 1 0 0 0 0 0 0 244916 chr14 20874518 20874518 G C rs148837253 TEP1 Synonymous SNV T203T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 244917 chr19 11200282 11200282 G A rs147509697 LDLR Nonsynonymous SNV G20R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.69 244918 chr6 84233775 84233775 G A rs764055591 PRSS35 Synonymous SNV R205R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.574 244919 chr22 26860053 26860053 A G rs148134252 HPS4 Nonsynonymous SNV C510R 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 Uncertain significance 0.001 244920 chr20 25259710 25259710 C T rs201804530 PYGB Synonymous SNV N339N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.49 244921 chr1 181725191 181725191 G T rs199667506 CACNA1E Synonymous SNV L1344L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.474 244922 chr20 25319967 25319967 C T rs768049980 ABHD12 Nonsynonymous SNV R71H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 244923 chr19 14263653 14263653 G A rs764583438 ADGRL1 Synonymous SNV H1122H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 244924 chr1 186062307 186062307 T C rs148265876 HMCN1 Nonsynonymous SNV L3310P 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 20.6 244925 chr12 2778044 2778044 G A rs189712469 CACNA1C-AS2 0 0 0 1 0 0 0.003 0 0 0 0 0 6.446 244926 chr1 186135989 186135989 C T rs142456335 HMCN1 Synonymous SNV D5163D 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 15.3 244927 chr12 283890 283890 G A rs569557609 IQSEC3 Synonymous SNV P1080P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.197 244928 chr20 16360725 16360725 C T rs747897403 KIF16B Nonsynonymous SNV R641H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 244929 chr22 32808081 32808081 C T rs146959368 RTCB Synonymous SNV R21R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.42 244930 chr20 34505456 34505456 G A rs139288054 PHF20 Nonsynonymous SNV D626N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 244931 chr20 3674873 3674873 G A rs780763473 SIGLEC1 Nonsynonymous SNV A1084V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 244932 chr20 2188045 2188045 C G rs1048429724 LOC388780 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.695 244933 chr22 38643898 38643898 C T rs141110992 TMEM184B Nonsynonymous SNV V24I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 244934 chr1 201178702 201178702 G A IGFN1 Nonsynonymous SNV V1561M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.268 244935 chr1 201178705 201178705 A G IGFN1 Nonsynonymous SNV N1562D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.926 244936 chr1 201178708 201178708 A G rs200427142 IGFN1 Nonsynonymous SNV K1563E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 244937 chr12 48238556 48238556 G A rs550308645 VDR Synonymous SNV L419L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 244938 chr22 41513309 41513309 A T EP300 Synonymous SNV V71V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.183 244939 chr12 4835893 4835893 A C GALNT8 Nonsynonymous SNV Q136P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 244940 chr22 41605890 41605890 T G L3MBTL2 Nonsynonymous SNV L72R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.87 244941 chr22 42032566 42032566 A G rs148220268 XRCC6 Synonymous SNV G77G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.572 244942 chr22 43289480 43289480 C T PACSIN2 Nonsynonymous SNV R26K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.7 244943 chr2 141356274 141356274 C T LRP1B Nonsynonymous SNV A2374T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 244944 chr20 31505108 31505108 T C EFCAB8 Nonsynonymous SNV F620L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.634 244945 chr12 49448709 49448709 C G KMT2D Nonsynonymous SNV R50S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.209 244946 chr14 55817930 55817930 C G rs34847946 FBXO34 Nonsynonymous SNV S274R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.43 244947 chr7 1026283 1026283 C T rs148926756 CYP2W1 Synonymous SNV L223L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.675 244948 chr20 3781136 3781136 G A rs61755298 CDC25B Synonymous SNV Q86Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.036 244949 chr7 111981006 111981006 T C rs574459797 ZNF277 Synonymous SNV H363H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.389 244950 chr7 116409704 116409704 T C MET Synonymous SNV N433N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.553 244951 chr14 65008972 65008972 C T rs767242911 HSPA2 Nonsynonymous SNV P469S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 244952 chr14 65249199 65249199 G A rs189656371 SPTB Nonsynonymous SNV R1359W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.2 244953 chr12 53517637 53517637 C T rs201315281 SOAT2 Nonsynonymous SNV R500W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 244954 chr12 54894379 54894379 C T rs138529525 NCKAP1L Synonymous SNV Y42Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.59 244955 chr1 212988367 212988367 C G TATDN3 Nonsynonymous SNV P211A 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 244956 chr2 100916297 100916297 A G LONRF2 Synonymous SNV D383D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.052 244957 chr12 56865934 56865934 C T rs116401557 GLS2 Synonymous SNV S254S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.05 244958 chr2 10917728 10917728 T C rs535219551 ATP6V1C2 Synonymous SNV A281A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.495 244959 chr7 138711478 138711478 G A ZC3HAV1L Stop gain Q288X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 244960 chr20 60898891 60898891 C T rs138911913 LAMA5 Synonymous SNV L1930L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.16 244961 chr12 6426498 6426498 G A rs141102293 PLEKHG6 Synonymous SNV Q230Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.977 244962 chr2 113953829 113953829 C A PSD4 Synonymous SNV T777T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.15 244963 chr2 11774413 11774413 C T rs199908531 GREB1 Synonymous SNV H1716H 0 0.005 0 0 0 2 0 0 0 0 0 0 16.21 244964 chr12 6833852 6833852 G A rs139143169 COPS7A Synonymous SNV Q10Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 244965 chr2 131130516 131130516 G T rs373527704 PTPN18 Synonymous SNV G330G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.854 244966 chr21 18933709 18933709 C G rs201624272 CXADR Nonsynonymous SNV L250V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 244967 chr21 35514779 35514779 T C rs760085209 MRPS6 Nonsynonymous SNV I86T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.014 244968 chr21 27124435 27124435 G A rs773825825 GABPA Nonsynonymous SNV G148D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 244969 chr14 103371608 103371608 C T rs151258452 TRAF3 Synonymous SNV R315R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.026 244970 chr12 78583972 78583972 T G rs748021898 NAV3 Synonymous SNV T2066T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.303 244971 chr7 158738289 158738289 C T rs377528954 WDR60 Nonsynonymous SNV A816V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.494 244972 chr1 237829825 237829825 C T rs765782802 RYR2 Nonsynonymous SNV A2817V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.2 244973 chr2 163302885 163302885 C T rs775414148 KCNH7 Synonymous SNV T392T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.07 244974 chr21 43132913 43132913 C T rs180675862 LINC00479 0 0 0.007 0 0 0 0 2 0 0 0 0 4.124 244975 chr7 2617912 2617912 A C IQCE Synonymous SNV R103R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.063 244976 chr7 29539520 29539520 C T rs760490626 CHN2 Synonymous SNV H123H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 244977 chr12 99100279 99100279 C T rs145807191 APAF1 Nonsynonymous SNV S817L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Likely benign 17.61 244978 chr2 172950655 172950655 A G rs141673847 DLX1 Nonsynonymous SNV I84V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.54 244979 chr19 44933000 44933000 G A rs189094366 ZNF229 Synonymous SNV G646G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.41 244980 chr1 248059724 248059724 A G OR2W3 Nonsynonymous SNV N279S 0.003 0 0 0 4 0 0 0 0 0 0 0 6.14 244981 chr2 220437223 220437223 C G rs12720060 INHA Nonsynonymous SNV P43A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.003 244982 chr7 36366373 36366373 A G KIAA0895 Nonsynonymous SNV I507T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 244983 chr22 19965563 19965563 C T rs16982871 ARVCF Nonsynonymous SNV R539Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 31 244984 chr13 114438251 114438254 CGGA - rs756235051 GRK1 D537Vfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 244985 chr19 4512205 4512205 T C rs111833260 PLIN4 Synonymous SNV T589T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 244986 chr22 19119629 19119629 G C rs562456158 TSSK2 Nonsynonymous SNV K239N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 244987 chr17 5271732 5271732 C G RABEP1 Nonsynonymous SNV S575C 0 0 0 2 0 0 0.005 0 0 0 0 0 21.3 244988 chr13 23910621 23910621 G A rs747676277 SACS Nonsynonymous SNV S2318L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.6 244989 chr19 47280293 47280293 G A rs760403808 SLC1A5 Nonsynonymous SNV L241F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 244990 chr13 25479700 25479700 A G CENPJ Nonsynonymous SNV Y826H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 244991 chr22 22142598 22142598 T C rs201257378 MAPK1 Synonymous SNV P268P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.325 244992 chr17 56247898 56247898 G A rs765844948 OR4D2 Nonsynonymous SNV M294I 0 0 0 2 0 0 0.005 0 0 0 0 0 15.42 244993 chr2 183989192 183989192 G T NUP35 Nonsynonymous SNV A3S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 244994 chr7 48315922 48315922 - G ABCA13 Frameshift insertion Q2221Sfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 244995 chr7 48315923 48315923 T C ABCA13 Synonymous SNV S2220S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 244996 chr17 58156138 58156138 G A HEATR6 Synonymous SNV S46S 0 0 0 2 0 0 0.005 0 0 0 0 0 15.88 244997 chr7 49815430 49815430 G C VWC2 Synonymous SNV P133P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.154 244998 chr22 24827402 24827402 T G rs201275567 ADORA2A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.119 244999 chr13 41341137 41341137 G A rs139126960 MRPS31 Nonsynonymous SNV T62I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 245000 chr7 55546213 55546213 C A rs767735398 VOPP1 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.416 245001 chr2 191233843 191233843 T G INPP1 Nonsynonymous SNV Y161D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28.6 245002 chr2 192288587 192288587 C T rs771482823 MYO1B Synonymous SNV D1046D 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.69 245003 chr1 34192171 34192171 G A rs1026786803 CSMD2 Synonymous SNV Y828Y 0.003 0 0 0 3 0 0 0 0 0 0 0 8.191 245004 chr1 36785986 36785986 T A rs752980466 SH3D21 Synonymous SNV P463P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.186 245005 chr2 25360365 25360365 T C rs148003430 EFR3B Synonymous SNV A537A 0.002 0.008 0 0 2 3 0 0 0 0 0 0 9.674 245006 chr22 35661225 35661225 C T rs752641529 HMGXB4 Nonsynonymous SNV L173F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 245007 chr2 202254143 202254143 G C TRAK2 Nonsynonymous SNV P426R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.6 245008 chr2 27327188 27327188 G A rs573946604 CGREF1 Nonsynonymous SNV T16M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.491 245009 chr13 76335140 76335152 GATCTACAGGATT - rs559563276 LMO7 D53Yfs*16 0.001 0 0 1 1 0 0.003 0 0 0 0 0 245010 chr7 86990729 86990729 T C rs561811108 CROT Synonymous SNV V88V 0.003 0 0 3 4 0 0.008 0 0 0 0 0 4.085 245011 chr13 99549780 99549780 G A rs775660552 DOCK9 Synonymous SNV S558S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.08 245012 chr22 45098409 45098409 G A rs768460465 PRR5, PRR5-ARHGAP8 Nonsynonymous SNV G19S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 245013 chr22 45312348 45312348 G C rs750977416 PHF21B Nonsynonymous SNV P114A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 245014 chr22 42306541 42306541 T G rs867899192 SHISA8 Nonsynonymous SNV N228H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 245015 chr22 42608759 42608759 T C rs374741905 TCF20 Synonymous SNV S851S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 245016 chr14 103597437 103597437 G A rs149002647 TNFAIP2 Synonymous SNV T416T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.655 245017 chr22 43036074 43036074 T G rs745582457 ATP5MGL Synonymous SNV T69T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.679 245018 chr22 43089366 43089366 G A rs765662216 A4GALT Nonsynonymous SNV L198F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 245019 chr14 105353530 105353530 T C rs200470977 CEP170B Nonsynonymous SNV M915T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.532 245020 chr8 103293524 103293524 G A rs143552597 UBR5 Nonsynonymous SNV R1974C 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 245021 chr22 50728053 50728053 C T rs375153131 PLXNB2 Nonsynonymous SNV A321T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.902 245022 chr19 54314177 54314180 AATC - NLRP12 D245Ifs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 245023 chr1 53556423 53556423 G A rs779070123 SLC1A7 Nonsynonymous SNV R291W 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 29.3 245024 chr2 219920518 219920518 G A rs142245478 IHH Nonsynonymous SNV A216V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.86 245025 chr22 51117306 51117306 C T rs757845033 SHANK3 Synonymous SNV A261A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 245026 chr19 54930400 54930400 C T rs144710284 TTYH1 Synonymous SNV P75P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 245027 chr1 55076198 55076198 G A rs143721655 FAM151A Nonsynonymous SNV T324M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.3 245028 chr8 106815365 106815365 G T rs750342489 ZFPM2 Nonsynonymous SNV A966S 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 12.64 245029 chr13 97639365 97639365 A - OXGR1 C217Afs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 245030 chr2 10132255 10132255 A G rs767781089 GRHL1 Nonsynonymous SNV N481S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.254 245031 chr13 103392834 103392834 G A rs748003050 CCDC168 Nonsynonymous SNV H3405Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.477 245032 chr13 103392922 103392922 A G rs776318016 CCDC168 Synonymous SNV Y3375Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 245033 chr13 103394796 103394796 G A CCDC168 Nonsynonymous SNV P2751S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.504 245034 chr2 228119411 228119411 C T COL4A3 Nonsynonymous SNV P290S 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 245035 chr19 56369923 56369923 G A rs370158529 NLRP4 Synonymous SNV P388P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.661 245036 chr2 113483829 113483829 C G rs769419794 NT5DC4 Nonsynonymous SNV L358V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 245037 chr14 24646077 24646077 G C REC8 Synonymous SNV L197L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.698 245038 chr2 114512883 114512883 T C SLC35F5 Synonymous SNV R38R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 245039 chr14 24675309 24675309 G T rs772554013 TSSK4 Nonsynonymous SNV K60N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 245040 chr8 141468443 141468443 G T rs139214686 TRAPPC9 Nonsynonymous SNV A74E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.467 245041 chr2 128017002 128017002 A C rs201806429 ERCC3 Nonsynonymous SNV M696R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 245042 chr14 24780452 24780452 C T rs779308801 LTB4R2 Synonymous SNV F194F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.12 245043 chr2 85788015 85788015 G C rs201510718 GGCX Nonsynonymous SNV S46C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 245044 chr8 142228884 142228884 G A rs563329640 SLC45A4 Synonymous SNV D234D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.23 245045 chr14 24899923 24899923 T C rs776272666 KHNYN Nonsynonymous SNV L37P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 245046 chr2 128622710 128622710 G A rs142938193 AMMECR1L Synonymous SNV N297N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.144 245047 chr2 131520377 131520377 C T rs761235140 AMER3 Synonymous SNV F244F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.693 245048 chr17 8793371 8793371 C T rs372824405 PIK3R5 Nonsynonymous SNV G244R 0 0 0 2 0 0 0.005 0 0 0 0 0 10.35 245049 chr19 58880065 58880065 C A ZNF837 Nonsynonymous SNV R212L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.272 245050 chr18 11897066 11897066 A G rs150678490 MPPE1 Synonymous SNV R66R 0 0 0 2 0 0 0.005 0 0 0 0 0 1.199 245051 chr16 3073383 3073383 G C rs200334755 HCFC1R1 Synonymous SNV A42A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.19 245052 chr14 53342054 53342054 T C FERMT2 Nonsynonymous SNV I329V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 245053 chr2 242039209 242039209 C T rs367795757 MTERF4 Nonsynonymous SNV R41H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.83 245054 chr18 2697994 2697994 T C rs375376651 SMCHD1 Synonymous SNV L433L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.594 245055 chr2 25463598 25463598 A G DNMT3A Nonsynonymous SNV I543T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 245056 chr14 30396704 30396704 C T rs191667643 PRKD1 Synonymous SNV P5P 0.004 0.003 0.007 0 5 1 0 2 0 0 0 0 Likely benign 22 245057 chr19 7997758 7997758 G A rs772314361 TIMM44 Nonsynonymous SNV R277W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.9 245058 chr2 27121449 27121449 G A rs139435744 DPYSL5 Nonsynonymous SNV V28I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.7 245059 chr18 44126874 44126874 C G LOXHD1 Synonymous SNV L55L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.92 245060 chr2 179427758 179427758 C T TTN Nonsynonymous SNV G18636S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 245061 chr2 179484453 179484453 C T rs761815745 TTN Nonsynonymous SNV G6466R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.7 245062 chr2 32617131 32617131 C T BIRC6 Synonymous SNV N288N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 245063 chr18 48450526 48450526 G A rs777034618 ME2 Nonsynonymous SNV S372N 0 0 0 3 0 0 0.008 0 0 0 0 0 0.003 245064 chr2 179579858 179579858 G A rs727505250 TTN Synonymous SNV S7441S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.66 245065 chr8 22064973 22064973 G A rs145359380 BMP1 Nonsynonymous SNV R840H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 245066 chr2 42883396 42883396 A G MTA3 Nonsynonymous SNV S130G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 245067 chr14 75574047 75574047 A G rs143529818 NEK9 Synonymous SNV T442T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 245068 chr19 9058869 9058869 G A rs753120559 MUC16 Nonsynonymous SNV T9526I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 245069 chr8 24321397 24321397 A T rs200862896 ADAM7 Nonsynonymous SNV E79V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 245070 chr2 191364929 191364929 C T rs752166022 MFSD6 Synonymous SNV A787A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.99 245071 chr2 198570511 198570511 G T MARS2 Nonsynonymous SNV A128S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 245072 chr20 30432641 30432641 C T rs138702609 FOXS1 Synonymous SNV T235T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.675 245073 chr2 201887558 201887558 T C FAM126B Nonsynonymous SNV N50S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 245074 chr2 202252612 202252612 C T rs556634625 TRAK2 Nonsynonymous SNV A504T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 245075 chr2 203817374 203817374 G A rs756446783 CARF Synonymous SNV G45G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.87 245076 chr14 70040291 70040291 C T rs576968208 CCDC177 Nonsynonymous SNV D17N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.31 245077 chr2 202137478 202137478 G A CASP8 Nonsynonymous SNV D236N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.929 245078 chr2 204732740 204732740 G C rs16840275 CTLA4 Synonymous SNV L25L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.024 245079 chr1 100336331 100336331 T G rs771965730 AGL Nonsynonymous SNV I288M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 16.3 245080 chr2 207174869 207174869 A G rs746951501 ZDBF2 Nonsynonymous SNV K1873E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.56 245081 chr14 96001440 96001440 T C rs573438674 GLRX5 Nonsynonymous SNV L5P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 245082 chr1 109171316 109171316 A T rs371123641 FAM102B Nonsynonymous SNV D287V 0.002 0 0 0 2 0 0 0 0 0 0 0 27 245083 chr18 9937045 9937045 C G VAPA Synonymous SNV P133P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.01 245084 chr3 143100940 143100940 C T rs111291437 SLC9A9 Nonsynonymous SNV D496N 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 25.6 245085 chr15 101110118 101110118 C G LINS1 Nonsynonymous SNV K533N 0 0 0 1 0 0 0.003 0 0 0 0 0 26 245086 chr2 215593452 215593452 C T rs142155101 BARD1 Nonsynonymous SNV S248N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.62 245087 chr16 58031157 58031157 C T ZNF319 Nonsynonymous SNV S338N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.85 245088 chr2 85069058 85069058 G A rs769094685 TRABD2A Nonsynonymous SNV T248M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.274 245089 chr16 67577036 67577036 G A rs764877552 RIPOR1 Nonsynonymous SNV G787R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.686 245090 chr19 10654826 10654826 C T rs1032381638 ATG4D Synonymous SNV R20R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.1 245091 chr2 86255168 86255168 G A rs371340381 POLR1A Synonymous SNV I1634I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.92 245092 chr15 34094159 34094159 A G RYR3 Synonymous SNV S3336S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.699 245093 chr2 218682829 218682829 C T rs141992593 TNS1 Nonsynonymous SNV G1284E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 245094 chr2 220193959 220193959 C G rs951917172 RESP18 Nonsynonymous SNV V161L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.485 245095 chr2 9599740 9599744 AAGAA - CPSF3 K558Cfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 245096 chr1 11710780 11710782 GCG - rs571719627 FBXO2 A45del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 245097 chr19 13211735 13211735 C T rs760636016 LYL1 Nonsynonymous SNV R84Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 245098 chr3 100364806 100364806 G A rs376592781 ADGRG7 Nonsynonymous SNV G27S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 33 245099 chr1 1216632 1216632 C T SCNN1D Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 245100 chr1 1259966 1259966 G A rs781707807 INTS11 Nonsynonymous SNV P8L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 245101 chr2 234716081 234716081 C T rs769316897 MROH2A Nonsynonymous SNV R689W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 245102 chr2 231359131 231359131 - A rs755117277 SP100 Frameshift insertion R537Efs*4 0.003 0 0 0 3 0 0 0 0 0 0 0 245103 chr3 113302274 113302274 G A rs749283824 SIDT1 Nonsynonymous SNV E194K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.83 245104 chr3 113619974 113619974 A G rs567346678 GRAMD1C Nonsynonymous SNV I8V 0.003 0.005 0 0 3 2 0 0 0 0 0 0 0.969 245105 chr2 238296778 238296778 G A rs376087730 COL6A3 Synonymous SNV T47T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.63 245106 chr2 234457808 234457808 T C USP40 Nonsynonymous SNV Y302C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 245107 chr3 119232500 119232500 G A TIMMDC1 Nonsynonymous SNV S177N 0.003 0.005 0 0 3 2 0 0 0 0 0 0 29.5 245108 chr15 52418214 52418214 T C rs771695452 GNB5 Nonsynonymous SNV R272G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 245109 chr3 122329446 122329448 GAT - PARP15 D139del 0.003 0.005 0 0 3 2 0 0 0 0 0 0 245110 chr15 56735980 56735980 A C rs147361221 MNS1 Synonymous SNV A253A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.776 245111 chr9 123367886 123367886 A T rs201595180 MEGF9 Nonsynonymous SNV I464N 0.003 0 0.007 2 3 0 0.005 2 0 0 0 0 22.8 245112 chr9 123688318 123688318 G A rs745775007 TRAF1 Synonymous SNV A12A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.28 245113 chr2 27480187 27480187 G A rs142470130 SLC30A3 Synonymous SNV P191P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.522 245114 chr19 2098447 2098447 C G IZUMO4 Nonsynonymous SNV H178Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.2 245115 chr9 130854231 130854231 G A rs115942384 SLC25A25 Nonsynonymous SNV E28K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 245116 chr9 131038590 131038590 C A rs144191558 SWI5 Nonsynonymous SNV H56N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.153 245117 chr19 2917094 2917094 G C ZNF57 Nonsynonymous SNV V127L 0 0 0 2 0 0 0.005 0 0 0 0 0 6.089 245118 chr9 131847565 131847565 C T rs142682926 DOLPP1 Synonymous SNV S114S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.99 245119 chr3 45637706 45637706 T C rs749959224 LIMD1 Synonymous SNV A445A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.774 245120 chr2 43801657 43801657 C T rs374097298 THADA Nonsynonymous SNV S516N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.371 245121 chr1 16071052 16071052 C T rs145931526 TMEM82 Nonsynonymous SNV T245M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.3 245122 chr1 16265905 16265905 G A rs937683205 SPEN Nonsynonymous SNV V3660I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 245123 chr15 64017685 64017685 C T rs80203202 HERC1 Nonsynonymous SNV G1125D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 245124 chr2 64114565 64114565 A G rs752208825 UGP2 Synonymous SNV Q356Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.327 245125 chr2 7027123 7027123 T G rs148668582 RSAD2 Nonsynonymous SNV V189G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 245126 chr2 55130632 55130632 C T rs186736618 EML6 Synonymous SNV D1134D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 245127 chr2 61411857 61411857 G A rs373856736 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.789 245128 chr3 53326381 53326381 A T DCP1A Nonsynonymous SNV S208R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.49 245129 chr3 167371051 167371051 - A rs774116618 WDR49 Stop gain E55* 0.002 0.005 0 0 2 2 0 0 0 0 0 0 245130 chr2 70098914 70098914 A G rs151019719 GMCL1 Nonsynonymous SNV I468V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.879 245131 chr16 10788637 10788637 T C rs145065368 TEKT5 Nonsynonymous SNV I32V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 245132 chr15 75968316 75968316 C T rs947218450 CSPG4 Nonsynonymous SNV A2182T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.007 245133 chr1 179783203 179783203 A T rs145283628 FAM163A Nonsynonymous SNV Y128F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 245134 chr2 8930170 8930170 G A rs559831416 KIDINS220 Synonymous SNV A488A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.429 245135 chr1 179981147 179981147 G C rs745398810 CEP350 Nonsynonymous SNV E444Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 245136 chr2 96906149 96906151 CTC - rs139983876 STARD7-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 245137 chr3 184573560 184573560 A T VPS8 Nonsynonymous SNV N353I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 245138 chr9 19336397 19336397 G T rs780937841 DENND4C Nonsynonymous SNV V907F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 245139 chr9 25678275 25678275 C T rs1006428859 TUSC1 Synonymous SNV G15G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.62 245140 chr17 17697096 17697096 - CAGCAGCAGCAG RAI1 Q291_A292insQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 245141 chr3 190578509 190578509 C T rs577398682 GMNC Nonsynonymous SNV D48N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 245142 chr1 1873499 1873499 C A CFAP74 Synonymous SNV S861S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 245143 chr17 18061063 18061063 G A rs377389290 MYO15A Nonsynonymous SNV R2939H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 245144 chr9 2812282 2812282 A T rs142216382 PUM3 Nonsynonymous SNV D450E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.9 245145 chr22 29446765 29446765 C G rs750035248 ZNRF3 Nonsynonymous SNV P866A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.252 245146 chr3 108351881 108351881 T C rs980606928 DZIP3 Nonsynonymous SNV S260P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 245147 chr3 194349147 194349147 C T rs778752232 TMEM44 Nonsynonymous SNV V77I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 10.5 245148 chr22 30921870 30921870 G A rs775401242 SEC14L6 Synonymous SNV P238P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.001 245149 chr3 111831980 111831980 C T rs981659049 C3orf52 Nonsynonymous SNV L213F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 245150 chr3 196051184 196051184 T C rs200479407 TM4SF19 Nonsynonymous SNV Q110R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.44 245151 chr3 112968673 112968673 G A rs761706666 BOC Synonymous SNV A8A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 245152 chr3 113375772 113375772 C T rs189433320 USF3 Nonsynonymous SNV R1586Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.9 245153 chr9 5769125 5769125 G A RIC1 Nonsynonymous SNV R1061H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 34 245154 chr3 32776408 32776408 C T rs201984738 CNOT10 Nonsynonymous SNV A485V 0 0.005 0 0 0 2 0 0 0 0 0 0 23.7 245155 chr16 23080462 23080462 C G USP31 Nonsynonymous SNV Q988H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.055 245156 chr3 38158060 38158060 G A rs868475191 DLEC1 Nonsynonymous SNV V1328M 0 0.005 0 0 0 2 0 0 0 0 0 0 1.275 245157 chr16 2810454 2810454 A G rs144062317 SRRM2 Nonsynonymous SNV K329R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.633 245158 chr3 124385463 124385463 G A rs1028131001 KALRN Nonsynonymous SNV M441I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.87 245159 chr3 39230014 39230014 C T rs751411277 XIRP1 Nonsynonymous SNV R308H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 245160 chr16 30393130 30393130 T C rs201459018 SEPTIN1 Nonsynonymous SNV T91A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 245161 chr1 205696933 205696933 T C NUCKS1 Nonsynonymous SNV D23G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 245162 chr3 126707553 126707553 C A PLXNA1 Synonymous SNV P39P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.683 245163 chr1 207195626 207195626 G A rs774478480 C1orf116 Nonsynonymous SNV L249F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 245164 chr3 129158646 129158646 G A rs2307297 MBD4 Synonymous SNV L11L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.43 245165 chr3 43074924 43074924 T G GASK1A Nonsynonymous SNV L390W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 245166 chr1 209795923 209795923 G A rs368271817 LAMB3 Nonsynonymous SNV R887C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 245167 chr16 3283666 3283666 G C ZNF200 Nonsynonymous SNV D30E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.03 245168 chr1 212115210 212115210 G A INTS7 Nonsynonymous SNV P900S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 245169 chr22 46782315 46782315 G A rs553297616 CELSR1 Synonymous SNV I2241I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.51 245170 chr1 214557074 214557074 G A rs201009749 PTPN14 Synonymous SNV S708S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 245171 chrX 11783698 11783698 G A MSL3 Nonsynonymous SNV E192K 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 245172 chr3 142548640 142548640 G A rs41265487 PCOLCE2 Synonymous SNV D253D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.69 245173 chr3 49362465 49362465 G T rs564412761 USP4 Synonymous SNV I165I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.75 245174 chr3 50293656 50293656 G A rs781821436 GNAI2 Nonsynonymous SNV S85N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 245175 chr1 222803249 222803249 C T rs200683570 MIA3 Nonsynonymous SNV A896V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.32 245176 chr1 223442011 223442011 C T rs147477935 SUSD4 Nonsynonymous SNV R123H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 245177 chr3 154139126 154139126 T C GPR149 Nonsynonymous SNV Q442R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 245178 chr1 225533910 225533910 T C rs201079664 DNAH14 Nonsynonymous SNV V3642A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.57 245179 chr3 15711864 15711864 A G rs754542101 ANKRD28 Synonymous SNV Y871Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.288 245180 chr3 54913424 54913424 G A CACNA2D3 Synonymous SNV K610K 0 0.005 0 0 0 2 0 0 0 0 0 0 3.574 245181 chr16 67410679 67410679 G A LRRC36 Synonymous SNV Q449Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.881 245182 chr16 68048263 68048263 G A rs948902242 DPEP2NB Synonymous SNV Y40Y 0 0 0 2 0 0 0.005 0 0 0 0 0 9.719 245183 chr16 68896960 68896960 C G TANGO6 Nonsynonymous SNV P283R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.9 245184 chr16 69143727 69143727 C T rs752155032 HAS3 Synonymous SNV T143T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.963 245185 chr16 69352841 69352841 C T rs199768662 VPS4A Synonymous SNV F153F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.93 245186 chr16 69419801 69419801 G A rs749171225 TERF2 Nonsynonymous SNV P25L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.54 245187 chr16 70503161 70503161 C T rs200931948 FCSK Nonsynonymous SNV A297V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 245188 chr17 47921473 47921473 G A rs557779883 TAC4 Nonsynonymous SNV T51M 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 245189 chr3 167183441 167183441 A T rs200591704 SERPINI2 Nonsynonymous SNV S167T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 245190 chrX 49113966 49113966 C T FOXP3 Synonymous SNV E89E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.339 245191 chr16 734286 734286 C T rs755670298 JMJD8 Nonsynonymous SNV A12T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.23 245192 chrX 54950019 54950019 G A rs752513134 TRO Nonsynonymous SNV A352T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.072 245193 chr17 55079497 55079497 C T SCPEP1 Synonymous SNV S417S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.68 245194 chr3 99513603 99513603 G A COL8A1 Synonymous SNV L286L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.86 245195 chr3 9972602 9972602 G A rs147254895 IL17RC Synonymous SNV A422A 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 Benign 7.638 245196 chr16 28884870 28884870 C T rs774819489 SH2B1 Nonsynonymous SNV A667V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 24.2 245197 chr16 28997966 28997966 C T rs891741122 LAT Nonsynonymous SNV S139L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.224 245198 chrX 78426690 78426690 C G rs745446286 GPR174 Synonymous SNV A62A 0.002 0 0.007 0 2 0 0 2 0 0 1 0 6.104 245199 chr4 103949945 103949949 TCTTT - rs762326428 SLC9B2 E392Dfs*71 0.001 0.005 0 0 1 2 0 0 0 0 0 0 245200 chr1 242121447 242121447 G C rs565246581 BECN2 Nonsynonymous SNV E127Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.595 245201 chr1 245851849 245851849 C T KIF26B Nonsynonymous SNV T1855M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 245202 chr1 24669515 24669515 G A rs145677453 GRHL3 Synonymous SNV G427G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.414 245203 chr10 103921967 103921967 A G rs199843207 NOLC1 Nonsynonymous SNV S691G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 245204 chr4 120221566 120221566 T G rs772621094 C4orf3 Nonsynonymous SNV H42P 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 16.44 245205 chr3 42602642 42602642 T C rs201433247 SEC22C Nonsynonymous SNV M165V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.38 245206 chr16 88599914 88599914 C T rs537685735 ZFPM1 Synonymous SNV G516G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 245207 chr16 88800411 88800411 A G PIEZO1 Synonymous SNV H744H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.044 245208 chr16 88876211 88876211 C T APRT Synonymous SNV L146L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.812 245209 chr4 154624301 154624301 T C rs56303479 TLR2 Nonsynonymous SNV L81P 0 0.005 0 0 0 2 0 0 0 0 0 0 24.3 245210 chr16 89262430 89262430 C T SLC22A31 Nonsynonymous SNV G422S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.05 245211 chr3 47162236 47162236 C T rs370953553 SETD2 Nonsynonymous SNV R1253H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.004 245212 chr16 75146328 75146328 C T LDHD Nonsynonymous SNV G484S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 245213 chr16 75146592 75146592 C T LDHD Synonymous SNV V422V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.01 245214 chr4 156874911 156874911 G T rs866795763 CTSO Nonsynonymous SNV T30N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.006 245215 chr19 5909049 5909049 G A rs745704095 VMAC Nonsynonymous SNV G136S 0 0 0 3 0 0 0.008 0 0 0 0 0 1.505 245216 chr3 49019143 49019143 C T rs148828006 ARIH2 Nonsynonymous SNV P445L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 245217 chr19 6734014 6734014 A G rs202057537 GPR108 0 0 0 2 0 0 0.005 0 0 0 0 0 18.69 245218 chr3 50155826 50155826 C T rs139773311 RBM5 Synonymous SNV G795G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 245219 chr16 81703806 81703806 C T rs201681184 CMIP Synonymous SNV N201N 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Benign 17.37 245220 chr19 7447688 7447688 G A rs762227942 ARHGEF18 Nonsynonymous SNV G245S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.321 245221 chr1 34383723 34383723 C G CSMD2 Nonsynonymous SNV V298L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 245222 chr1 3555363 3555363 C A WRAP73 Nonsynonymous SNV L121F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 245223 chr3 52726974 52726974 C T rs534213572 GNL3 Nonsynonymous SNV A319V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 245224 chr17 21204200 21204200 C T rs568850558 MAP2K3 Synonymous SNV T69T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 245225 chr3 78987882 78987882 G A rs757469885 ROBO1 Nonsynonymous SNV P84L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 245226 chr16 88747623 88747623 G A rs754015883 SNAI3 Synonymous SNV Y192Y 0.002 0 0 0 2 0 0 0 0 0 0 0 8.128 245227 chr4 187560891 187560891 A G FAT1 Synonymous SNV D1209D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.37 245228 chr18 5890213 5890213 T C rs781561969 TMEM200C Nonsynonymous SNV E617G 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 245229 chr1 44083468 44083468 C T PTPRF Synonymous SNV A1115A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 245230 chr10 29136160 29136160 G A rs767079289 C10orf126 0.002 0 0 2 2 0 0.005 0 0 0 0 0 5.623 245231 chr3 9989413 9989413 A T PRRT3 Nonsynonymous SNV F482I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 245232 chr10 30728051 30728051 T G MAP3K8 Nonsynonymous SNV S62A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.8 245233 chr18 21061231 21061231 A G rs56387307 RIOK3 Synonymous SNV L500L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.413 245234 chr17 29622737 29622737 A G rs974507286 OMG Nonsynonymous SNV F205L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.295 245235 chr4 110673648 110673648 T C rs113273712 CFI Nonsynonymous SNV I299V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.292 245236 chr4 110920956 110920956 C T rs11569098 EGF Nonsynonymous SNV L920F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.96 245237 chr4 120213496 120213496 A C USP53 Nonsynonymous SNV H752P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 245238 chr4 120221838 120221838 T C C4orf3 Synonymous SNV R84R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.404 245239 chr10 49942048 49942048 T C rs376807701 WDFY4 Nonsynonymous SNV V552A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 2.691 245240 chr3 66430758 66430758 C T rs767736930 LRIG1 Nonsynonymous SNV E1071K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 245241 chr1 109465070 109465070 G C rs147906282 GPSM2 Nonsynonymous SNV G491A 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Uncertain significance 24 245242 chr1 60132971 60132971 T C rs545682763 FGGY Nonsynonymous SNV I139T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 245243 chr17 3773136 3773136 C T rs376135046 CAMKK1 Nonsynonymous SNV D391N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 245244 chr4 13578516 13578524 TCTTCCTCT - BOD1L1 E2993_E2995del 0 0 0.003 0 0 0 0 1 0 0 0 0 245245 chr2 233393582 233393582 - ATAC CHRND Frameshift insertion A161Yfs*27 0.003 0.003 0 0 4 1 0 0 0 0 0 0 245246 chr10 70940059 70940059 C G SUPV3L1 Synonymous SNV S4S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.06 245247 chr17 6329939 6329939 G A rs145304845 AIPL1 Synonymous SNV H197H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.657 245248 chr2 234702340 234702340 C T MROH2A Nonsynonymous SNV T231M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26 245249 chr4 159603570 159603570 G A ETFDH Synonymous SNV E72E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.66 245250 chr4 75675924 75675924 T C rs199618373 BTC Nonsynonymous SNV D96G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24 245251 chr4 165878157 165878157 C T rs763956945 FAM218A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.338 245252 chr19 617801 617801 T C rs745682275 POLRMT Synonymous SNV A1157A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 245253 chr4 170476983 170476983 G A NEK1 Nonsynonymous SNV R484C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 245254 chr19 814526 814526 C G rs146870799 PLPPR3 Nonsynonymous SNV V275L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 15.65 245255 chr1 878257 878257 G A rs773135934 SAMD11 Synonymous SNV S461S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.184 245256 chr4 8037939 8037939 G A rs763125239 ABLIM2 Synonymous SNV P85P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 13.33 245257 chr17 39978578 39978578 G A rs138281924 FKBP10 Nonsynonymous SNV R556H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.1 245258 chr4 8229164 8229164 G A rs201687536 SH3TC1 Synonymous SNV V505V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.888 245259 chr4 1843163 1843163 G A rs754980501 LETM1 Nonsynonymous SNV R169C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 245260 chr4 85605211 85605211 C T WDFY3 Nonsynonymous SNV S3204N 0 0.005 0 0 0 2 0 0 0 0 0 0 22.5 245261 chr4 88415432 88415432 G C rs756928892 SPARCL1 Nonsynonymous SNV Q49E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.289 245262 chr4 1977025 1977025 G A rs200130380 NSD2 Synonymous SNV T1173T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.3 245263 chr17 4837751 4837751 C T rs371909342 GP1BA Nonsynonymous SNV R618C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 245264 chr4 40439936 40439936 C T rs376524282 RBM47 Synonymous SNV S325S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.22 245265 chr19 5590343 5590343 C T rs773551661 SAFB2 Nonsynonymous SNV G824D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.5 245266 chr5 125696124 125696124 T A rs79046516 GRAMD2B Nonsynonymous SNV V34E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.803 245267 chr5 125696127 125696127 A G rs78682130 GRAMD2B Nonsynonymous SNV K35R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.4 245268 chr20 24930163 24930163 C T rs45470396 CST7 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.576 245269 chr4 47593163 47593163 A T rs200479028 ATP10D Nonsynonymous SNV K1349M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 245270 chr4 5683010 5683010 T C rs777206473 EVC2 Nonsynonymous SNV I203V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.608 245271 chr5 39341249 39341249 C T rs756265565 C9 Nonsynonymous SNV G159R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 245272 chr4 72215713 72215713 A G rs202023522 SLC4A4 Synonymous SNV L114L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.052 245273 chr20 39794451 39794451 A G PLCG1 Nonsynonymous SNV Y595C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 245274 chr17 67188732 67188732 G A rs200188638 ABCA10 Stop gain R615X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 245275 chr4 79443859 79443859 C T rs537642354 FRAS1 Nonsynonymous SNV P3569S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 245276 chr1 176853522 176853522 C T rs201593312 ASTN1 Nonsynonymous SNV R1060H 0 0 0 2 0 0 0.005 0 0 0 0 0 31 245277 chr5 149263074 149263074 C T rs121909835 PDE6A Nonsynonymous SNV V685M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Pathogenic 34 245278 chr4 8238041 8238041 C T rs144056490 SH3TC1 Nonsynonymous SNV R1072C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 245279 chr4 84516094 84516094 C T GPAT3 Stop gain R279X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 245280 chr4 8589022 8589022 C T rs577710912 GPR78 Nonsynonymous SNV R342C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 245281 chr1 181767497 181767497 C T rs749525291 CACNA1E Nonsynonymous SNV R2095W 0 0 0 2 0 0 0.005 0 0 0 0 0 33 245282 chr4 961119 961119 C T rs753823331 DGKQ Nonsynonymous SNV E340K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 245283 chr17 73759444 73759444 G A rs150323432 GALK1 Synonymous SNV S144S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 10.54 245284 chr17 73826490 73826490 C T rs113461073 UNC13D Nonsynonymous SNV R928H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 1.709 245285 chr20 5923074 5923076 ATA - TRMT6 Y172del 0.001 0 0 0 1 0 0 0 0 0 0 0 245286 chr17 74014257 74014257 G - rs753386949 EVPL R508Gfs*43 0 0 0.003 1 0 0 0.003 1 0 0 0 0 245287 chr17 74014259 74014260 AG - rs756826388 EVPL L507Sfs*19 0 0 0.003 1 0 0 0.003 1 0 0 0 0 245288 chr5 169018072 169018072 T C rs780728400 SPDL1 Synonymous SNV Y60Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.882 245289 chr5 121788645 121788645 T G rs764426626 SNCAIP Nonsynonymous SNV L561R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 245290 chr20 60927332 60927332 T C LAMA5 Nonsynonymous SNV E218G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 245291 chr5 131303656 131303656 A G ACSL6 Nonsynonymous SNV W425R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 245292 chr5 131930699 131930699 G A rs375978877 RAD50 Synonymous SNV R644R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.78 245293 chr5 134678933 134678933 C T rs61737517 C5orf66 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 245294 chr5 135207148 135207148 A G rs200164783 SLC25A48 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 245295 chr5 179745858 179745858 G A rs201454563 GFPT2 Nonsynonymous SNV S298L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22 245296 chr17 77808866 77808866 C T rs77181887 CBX4 Nonsynonymous SNV S192N 0 0 0.01 1 0 0 0.003 3 0 0 0 0 3.518 245297 chr17 7797141 7797141 G A rs746970749 CHD3 Nonsynonymous SNV R330Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 245298 chr17 78069134 78069134 G A rs778911324 CCDC40 Nonsynonymous SNV E969K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 245299 chr11 17569476 17569476 G A rs763492113 OTOG Nonsynonymous SNV A33T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.659 245300 chr17 79514647 79514647 G A rs367963184 FAAP100 Synonymous SNV N487N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.22 245301 chr5 37183490 37183490 G T rs147588579 CPLANE1 Nonsynonymous SNV T1598K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 245302 chr11 18727653 18727655 CTT - rs747048024 IGSF22 K1207del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 245303 chr6 133035090 133035090 C T rs372898370 VNN1 Nonsynonymous SNV V29I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 245304 chr5 146750292 146750292 C T rs752775183 STK32A Nonsynonymous SNV P246S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 245305 chr21 35821849 35821849 C T rs17173510 KCNE1, KCNE1B Synonymous SNV S28S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 11.97 245306 chr5 149375256 149375256 G A rs768843860 TIGD6 Nonsynonymous SNV S219L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 245307 chr1 220869971 220869971 C T rs199583660 C1orf115 Synonymous SNV I109I 0 0 0 2 0 0 0.005 0 0 0 0 0 13.83 245308 chr18 12358857 12358857 G A rs180989155 AFG3L2 Nonsynonymous SNV R280W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.5 245309 chr19 31768692 31768692 G A rs140467627 TSHZ3 Synonymous SNV N669N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 245310 chr18 19034437 19034437 G A GREB1L Nonsynonymous SNV G699S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 245311 chr3 135825123 135825123 G A rs779583751 PPP2R3A Synonymous SNV T360T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 12.92 245312 chr5 61875287 61875287 C T LRRC70 Synonymous SNV L8L 0 0.005 0 0 0 2 0 0 0 0 0 0 1.364 245313 chr5 167674715 167674715 C T rs377310392 TENM2 Synonymous SNV L2018L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.348 245314 chr21 44323322 44323322 T C rs747795631 NDUFV3 Nonsynonymous SNV L67P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.7 245315 chr11 373810 373810 G A rs147407526 B4GALNT4 Synonymous SNV S255S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.48 245316 chr21 45733563 45733563 C T rs143375812 PFKL Synonymous SNV C212C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 245317 chr18 3457456 3457456 C T rs775078421 TGIF1 Nonsynonymous SNV R116C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 245318 chr5 176638671 176638671 C A rs35597015 NSD1 Nonsynonymous SNV L1091I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.776 245319 chr5 176721164 176721164 C T rs148585227 NSD1 Synonymous SNV S2265S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 245320 chr5 7861279 7861279 C T rs139537580 FASTKD3 Nonsynonymous SNV G623S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.8 245321 chr21 46308705 46308705 G T rs532445449 ITGB2 Synonymous SNV T661T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.616 245322 chr1 228540686 228540686 C T rs777253012 OBSCN Nonsynonymous SNV A6195V 0 0 0 2 0 0 0.005 0 0 0 0 0 22 245323 chr1 230824279 230824279 G A rs34109129 COG2 Nonsynonymous SNV V588I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 19.16 245324 chr1 232650781 232650781 C T rs373717822 SIPA1L2 Nonsynonymous SNV R102Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14.76 245325 chr5 93987463 93987463 C A SLF1 Nonsynonymous SNV H265Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 245326 chr5 94852666 94852666 C T rs770649902 TTC37 Nonsynonymous SNV G797D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.32 245327 chr22 18324614 18324614 C T rs770521770 MICAL3 Synonymous SNV T925T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 245328 chr22 20759950 20759950 C T ZNF74 Synonymous SNV G138G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.469 245329 chr5 50124213 50124213 T C PARP8 Synonymous SNV L678L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.33 245330 chr5 149374781 149374781 G A rs201306160 TIGD6 Synonymous SNV I377I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.158 245331 chr5 149505054 149505054 C T rs56078873 PDGFRB Synonymous SNV L523L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 16.57 245332 chr5 55063716 55063716 T C DDX4 Synonymous SNV S15S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.375 245333 chr5 55076956 55076956 C A rs148485105 DDX4 Nonsynonymous SNV P54T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.742 245334 chr1 247264473 247264473 G A rs751826125 ZNF669 Nonsynonymous SNV R114C 0 0 0 2 0 0 0.005 0 0 0 0 0 7.019 245335 chr5 68408997 68408997 G A SLC30A5 Nonsynonymous SNV V160M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 245336 chr19 10206662 10206662 T C rs200836122 ANGPTL6 Nonsynonymous SNV Q193R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 245337 chr22 30771556 30771556 C T rs373775730 CCDC157 Synonymous SNV S587S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 245338 chr18 43418828 43418828 G A rs201159400 SIGLEC15 Synonymous SNV P214P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 7.16 245339 chr22 31946287 31946287 G A rs201319945 SFI1 Nonsynonymous SNV R84H 0.003 0 0 0 3 0 0 0 0 0 0 0 4.026 245340 chr5 75757407 75757407 A T rs148247178 IQGAP2 Nonsynonymous SNV D20V 0 0 0.003 0 0 0 0 1 0 0 0 0 30 245341 chr6 44250072 44250072 - G TCTE1 Frameshift insertion L358Sfs*20 0.001 0.003 0 0 1 1 0 0 0 0 0 0 245342 chr18 55328538 55328538 C T rs761625705 ATP8B1 Nonsynonymous SNV E809K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 245343 chr6 13295561 13295561 C T rs757381617 LOC100130357 0 0.003 0 0 0 1 0 0 0 0 0 0 6.525 245344 chr22 35820193 35820193 G A rs757467768 MCM5 Nonsynonymous SNV R717Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 245345 chr19 11552120 11552120 G A rs139991238 PRKCSH Nonsynonymous SNV R139H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27 245346 chr19 48967816 48967816 G A rs144271715 KCNJ14 Nonsynonymous SNV E365K 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 33 245347 chr22 42172131 42172131 A G rs369397468 MEI1 Nonsynonymous SNV D857G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 245348 chr22 42293114 42293114 G A rs367988610 SREBF2 Nonsynonymous SNV G852R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 245349 chr5 90074252 90074252 C T rs747049646 ADGRV1 Synonymous SNV N4225N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 245350 chr5 96430547 96430547 A G rs757711907 LIX1 Synonymous SNV L252L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.59 245351 chr19 51298160 51298160 G A rs200028535 ACP4 Synonymous SNV P368P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.135 245352 chr6 105526519 105526519 C T rs150452636 LIN28B Nonsynonymous SNV P205L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.651 245353 chr3 48419881 48419881 C T rs372841013 FBXW12 Synonymous SNV L141L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.5 245354 chr6 110531921 110531921 A G CDC40 Synonymous SNV K214K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.98 245355 chr5 36684013 36684013 C T SLC1A3 Nonsynonymous SNV A334V 0.001 0 0 0 1 0 0 0 0 0 0 0 35 245356 chr6 162622178 162622178 C T rs757533563 PRKN Synonymous SNV T173T 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 14.65 245357 chr6 89815205 89815205 T C rs752685727 SRSF12 Nonsynonymous SNV N72S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 245358 chr19 52941073 52941073 G C rs202068094 ZNF534 Nonsynonymous SNV W92C 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.257 245359 chr19 17836729 17836729 C T rs753073985 MAP1S Nonsynonymous SNV A153V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.817 245360 chr6 170162627 170162627 G A rs149649895 ERMARD Synonymous SNV E194E 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 14.74 245361 chr6 17608507 17608507 T C rs760188032 FAM8A1 Synonymous SNV H393H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.199 245362 chr3 52537830 52537830 A C rs969086775 STAB1 Nonsynonymous SNV N312H 0.002 0 0 0 2 0 0 0 0 0 0 0 9.295 245363 chr6 18121916 18121916 C A rs756683363 NHLRC1 Nonsynonymous SNV D308Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 245364 chr19 18376503 18376503 G C rs139728452 IQCN Nonsynonymous SNV T616R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 245365 chr6 129704300 129704300 G A rs373997222 LAMA2 Nonsynonymous SNV G1665R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 245366 chr6 25556962 25556962 C T rs193225623 CARMIL1 Nonsynonymous SNV P876S 0 0.005 0 0 0 2 0 0 0 0 0 0 12.54 245367 chr19 18726790 18726790 G T TMEM59L Nonsynonymous SNV K138N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.2 245368 chr19 1912651 1912651 G T ADAT3 Nonsynonymous SNV R186L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.113 245369 chr6 135517014 135517014 G A rs572834651 MYB Synonymous SNV A324A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 245370 chr6 26368980 26368984 ACCGT - BTN3A2 P92Sfs*27 0 0.005 0 0 0 2 0 0 0 0 0 0 245371 chr5 56777915 56777915 C G ACTBL2 Nonsynonymous SNV R207P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 245372 chr19 3178802 3178802 G A rs755933228 S1PR4 Synonymous SNV T4T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.949 245373 chr6 144749959 144749959 T A UTRN Synonymous SNV I208I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 245374 chr19 3192556 3192556 C T rs751195921 NCLN Synonymous SNV D91D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.54 245375 chr2 128744480 128744480 T C rs72841716 SAP130 Nonsynonymous SNV S639G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.9 245376 chr2 133531429 133531429 G A rs199705308 NCKAP5 Synonymous SNV D377D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.904 245377 chr6 159644575 159644575 A G rs201387402 FNDC1 Nonsynonymous SNV D261G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 245378 chr6 160448279 160448279 G C rs746902927 IGF2R Nonsynonymous SNV V237L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 245379 chr19 56701817 56701817 A G rs61742631 ZSCAN5B Synonymous SNV D289D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 245380 chr2 152292004 152292004 A G rs375433151 RIF1 Nonsynonymous SNV I369V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 245381 chr6 42832788 42832788 T C rs146816473 BICRAL Synonymous SNV D948D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.006 245382 chr2 159537101 159537101 C T rs199647676 PKP4 Nonsynonymous SNV S1121L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 245383 chr19 3633440 3633440 C T rs746445460 PIP5K1C Nonsynonymous SNV D667N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 245384 chr7 103130244 103130244 G A rs200370282 RELN Synonymous SNV S3236S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 14.63 245385 chr6 43323066 43323066 C T rs148372432 ZNF318 Nonsynonymous SNV R669H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.876 245386 chr6 18256686 18256686 C T rs903058409 DEK Nonsynonymous SNV V86M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 245387 chr1 70644596 70644596 G A rs141157410 LRRC40 Nonsynonymous SNV L248F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 245388 chr2 167141016 167141016 T A rs121908918 SCN9A Nonsynonymous SNV N641Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 245389 chr19 38610312 38610312 C G rs199695282 SIPA1L3 Nonsynonymous SNV I886M 0 0 0 2 0 0 0.005 0 0 0 0 0 4.047 245390 chr19 38904090 38904090 C - RASGRP4 E230Kfs*36 0 0 0 1 0 0 0.003 0 0 0 0 0 245391 chr2 170096141 170096141 A G LRP2 Nonsynonymous SNV L1397P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 245392 chr19 38933092 38933092 A C rs781387077 RYR1 Nonsynonymous SNV E90A 0 0 0 2 0 0 0.005 0 0 0 0 0 23 245393 chr6 49438694 49438695 AC - CENPQ T38Sfs*5 0 0.005 0 0 0 2 0 0 0 0 0 0 245394 chr6 11105265 11105265 A G ERVFRD-1 Synonymous SNV L93L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 245395 chr2 175711819 175711819 C A CHN1 Nonsynonymous SNV R14M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 245396 chr6 52878678 52878678 C T CILK1 Nonsynonymous SNV G312S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.52 245397 chr4 13600805 13600805 G A rs201095193 BOD1L1 Synonymous SNV G2573G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 245398 chr1 89729534 89729534 A G GBP5 Nonsynonymous SNV L416P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 245399 chr19 4217066 4217066 G A rs377136486 ANKRD24 Nonsynonymous SNV A637T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.757 245400 chr2 183731083 183731083 G T rs745442518 FRZB Synonymous SNV I66I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 245401 chr7 138546172 138546172 T G KIAA1549 Nonsynonymous SNV T1654P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 245402 chr6 3850940 3850940 G C FAM50B Nonsynonymous SNV E299Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 245403 chr19 4453484 4453484 C T rs764525926 UBXN6 Nonsynonymous SNV G42R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.29 245404 chr6 83900710 83900710 T C rs749320607 PGM3 Nonsynonymous SNV K8E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.107 245405 chr19 10260133 10260133 A G DNMT1 Nonsynonymous SNV M845T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.43 245406 chr6 87994467 87994467 C T rs946784627 GJB7 Nonsynonymous SNV S55N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.6 245407 chr2 196729156 196729156 A G rs374125048 DNAH7 Nonsynonymous SNV F2408S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 245408 chr6 43172186 43172186 G A rs143759620 CUL9 Synonymous SNV A1416A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 245409 chr20 17208072 17208072 G C rs143669642 PCSK2 Nonsynonymous SNV G41A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 245410 chr19 4512945 4512945 C T rs75031432 PLIN4 Nonsynonymous SNV G343S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.85 245411 chr19 4512946 4512946 A G rs79662071 PLIN4 Synonymous SNV T342T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.005 245412 chr6 46623683 46623683 A G rs59481745 SLC25A27 Synonymous SNV G70G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.029 245413 chr6 46679323 46679323 C G rs45454695 PLA2G7 Nonsynonymous SNV K191N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.03 245414 chr6 46847589 46847589 C T rs771289699 ADGRF5 Synonymous SNV K334K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.965 245415 chr2 203500000 203500000 C T rs769090465 FAM117B Synonymous SNV S30S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.13 245416 chr19 14200107 14200112 TCTTCA - rs374448790 SAMD1 D233_E234del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 245417 chr20 30408204 30408204 A C MYLK2 Nonsynonymous SNV K110Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.674 245418 chr19 46811994 46811994 C T rs568443364 HIF3A Nonsynonymous SNV R106C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 245419 chr11 92534624 92534624 A G rs768291816 FAT3 Synonymous SNV E2815E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.741 245420 chr2 209308116 209308116 G A rs149297616 PTH2R Nonsynonymous SNV V74M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 245421 chr19 47920571 47920571 C T rs61733746 MEIS3 Nonsynonymous SNV G17S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 245422 chr20 34571912 34571912 G A rs138045142 CNBD2 Nonsynonymous SNV R139H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 245423 chr19 48647171 48647171 C A LIG1 Nonsynonymous SNV V208L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.483 245424 chr6 7387238 7387238 T A rs200490702 CAGE1 Nonsynonymous SNV T57S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 245425 chr19 48800337 48800337 - GG CCDC114 Frameshift insertion D637Pfs*111 0 0 0 1 0 0 0.003 0 0 0 0 0 245426 chr19 48800338 48800338 - CGCTGTGCCTCCGCTCGAATCG CCDC114 Frameshift insertion L642Tfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 245427 chr19 48950010 48950010 A G rs140236860 GRWD1 Synonymous SNV E126E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.204 245428 chr19 49004605 49004605 G C rs200010155 LMTK3 Synonymous SNV P341P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 245429 chr19 49611532 49611532 G C SNRNP70 Nonsynonymous SNV E373D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.68 245430 chr6 86387036 86387036 - T rs753283093 SNORD50A 0 0 0.007 0 0 0 0 2 0 0 0 0 245431 chr19 17547678 17547678 G A TMEM221 Synonymous SNV S155S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 245432 chr7 100683425 100683425 C T MUC17 Nonsynonymous SNV P2910S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.01 245433 chr19 501786 501786 C A rs77264553 MADCAM1 Nonsynonymous SNV P262Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.15 245434 chr7 114563052 114563052 G A rs772227220 MDFIC Synonymous SNV R97R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.517 245435 chr6 27925790 27925790 G A rs144862596 OR2B6 Nonsynonymous SNV V258M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 245436 chr20 46279983 46279983 A G rs372630973 NCOA3 Synonymous SNV Q1302Q 0 0 0 2 0 0 0.005 0 0 0 0 0 1.244 245437 chr19 51857658 51857658 C T rs140608276 ETFB Nonsynonymous SNV V79I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.65 245438 chr4 7026960 7026960 A G rs770450733 TBC1D14 Nonsynonymous SNV M383V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 245439 chr19 52660688 52660688 A G ZNF836 Nonsynonymous SNV V83A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.047 245440 chr20 55917786 55917786 T C rs761756353 SPO11 Synonymous SNV L283L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.565 245441 chr7 109600137 109600137 A G rs148328277 EIF3IP1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.06 245442 chr7 11053477 11053477 T C PHF14 Synonymous SNV P383P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.248 245443 chr2 26671654 26671654 C G rs143980408 DRC1 Nonsynonymous SNV L498V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.6 245444 chr7 127017373 127017373 T C ZNF800 Synonymous SNV Q56Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.4 245445 chr6 43027069 43027069 G A rs566709410 MRPL2 Synonymous SNV P17P 0.004 0 0 0 5 0 0 0 0 0 0 0 6.266 245446 chr7 14775769 14775769 G C rs10238323 DGKB Synonymous SNV A66A 0 0.005 0 0 0 2 0 0 0 0 0 0 9.647 245447 chr7 127999417 127999417 A G PRRT4 Nonsynonymous SNV I210T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 245448 chr19 55495030 55495030 T C rs758785918 NLRP2 Nonsynonymous SNV L633P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 245449 chr6 43266453 43266453 C T rs374641067 SLC22A7 Synonymous SNV Y119Y 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 245450 chr2 29245046 29245046 C G TOGARAM2 Synonymous SNV L406L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.883 245451 chr20 62626796 62626796 C T rs745976215 PRPF6 Synonymous SNV G244G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.45 245452 chr6 4952583 4952583 C T rs150165899 CDYL Synonymous SNV P237P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 245453 chr5 102611894 102611894 C T rs375525063 C5orf30 Nonsynonymous SNV R92C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 245454 chr2 33809881 33809881 G C rs754171166 FAM98A Nonsynonymous SNV H312D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 245455 chr7 141427900 141427900 C T rs75495276 WEE2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.472 245456 chr7 141739966 141739966 G C MGAM Nonsynonymous SNV E790Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 245457 chr5 112178510 112178510 G A APC Nonsynonymous SNV G2389S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.025 245458 chr5 112336851 112336851 A G rs374882349 DCP2 Nonsynonymous SNV N168S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.3 245459 chr2 39029859 39029859 G C rs772315993 DHX57 Nonsynonymous SNV Q1237E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 245460 chr19 57051011 57051011 A G rs752944451 ZFP28 Nonsynonymous SNV T76A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 245461 chr12 300346 300346 C G SLC6A12 Nonsynonymous SNV S578T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.56 245462 chr7 143807178 143807178 G C OR2A2 Nonsynonymous SNV C168S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 245463 chr19 580774 580774 G A BSG Nonsynonymous SNV E82K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.558 245464 chr2 45826653 45826653 C T SRBD1 Nonsynonymous SNV V195I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 245465 chr12 43826434 43826434 G A rs370962484 ADAMTS20 Synonymous SNV F967F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 245466 chr19 46269755 46269755 G A rs200487992 SIX5 Nonsynonymous SNV P488S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 25.9 245467 chr2 70098907 70098907 A G GMCL1 Synonymous SNV G465G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.22 245468 chr7 16255781 16255781 T A rs368477537 CRPPA Nonsynonymous SNV K337N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.92 245469 chr7 17885249 17885249 A G rs779677883 SNX13 Synonymous SNV L378L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.736 245470 chr19 7830892 7830892 T C rs142166281 CLEC4M Synonymous SNV L174L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 245471 chr7 43548694 43548694 C T rs200822928 HECW1 Synonymous SNV S1297S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.46 245472 chr7 21788275 21788275 G C rs774841908 DNAH11 Nonsynonymous SNV S2863T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 245473 chr19 8028589 8028589 C T rs780701157 ELAVL1 Synonymous SNV Q253Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.812 245474 chr22 28194936 28194936 - TGC MN1 Q550_R551insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 245475 chr19 8159419 8159419 G T rs7245558 FBN3 Nonsynonymous SNV T1939N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.5 245476 chr19 8188777 8188777 G A rs34591995 FBN3 Synonymous SNV V949V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.062 245477 chr5 149509395 149509395 G A rs142992960 PDGFRB Nonsynonymous SNV R438W 0.005 0 0 0 6 0 0 0 0 0 0 0 Likely benign 25.1 245478 chr7 45743333 45743333 C T rs370710529 ADCY1 Synonymous SNV A902A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 245479 chr3 108746676 108746676 T C rs148923513 MORC1 Synonymous SNV P542P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 245480 chr7 48089487 48089487 C T rs61749572 C7orf57 Nonsynonymous SNV P51L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 245481 chr22 26736543 26736543 G A rs750551540 SEZ6L Synonymous SNV S719S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 14.53 245482 chr7 4841339 4841339 C T rs754192211 RADIL Synonymous SNV A929A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 245483 chr7 75612905 75612905 G A rs11540674 POR Nonsynonymous SNV E300K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 25.3 245484 chr3 120428752 120428752 T A RABL3 Nonsynonymous SNV H48L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 245485 chr22 32111992 32111992 T C rs765077953 PRR14L Synonymous SNV K611K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.015 245486 chr22 35789560 35789560 C T rs148193694 HMOX1 Nonsynonymous SNV A279V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 245487 chr8 145678763 145678763 C A rs150956710 CYHR1 Synonymous SNV T151T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 20.2 245488 chr8 145830992 145830992 T C ARHGAP39 Nonsynonymous SNV Q3R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 245489 chr7 99123884 99123884 C T rs758511690 ZKSCAN5 Synonymous SNV C334C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.02 245490 chr7 87011445 87011445 A G CROT Nonsynonymous SNV D373G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 245491 chr8 100779115 100779115 C T rs374136243 VPS13B Synonymous SNV L2413L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.84 245492 chr8 101076026 101076026 A G RGS22 Synonymous SNV L143L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 245493 chr12 75672704 75672704 A G rs750790834 CAPS2 Nonsynonymous SNV F467S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 245494 chr3 12545200 12545200 G A rs757172883 TSEN2 Nonsynonymous SNV D250N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.744 245495 chr1 116233765 116233765 C T rs148199776 VANGL1 Nonsynonymous SNV A445V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 245496 chr3 127379481 127379481 C T rs771019867 PODXL2 Nonsynonymous SNV R204C 0.003 0 0 0 3 0 0 0 0 0 0 0 18.1 245497 chr8 104432630 104432630 A G rs13272825 DCAF13 Nonsynonymous SNV N70S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.49 245498 chr1 117568217 117568217 G A rs17229382 CD101 Nonsynonymous SNV V839I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 1.557 245499 chr3 128712130 128712130 C T KIAA1257 Stop gain W6X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 245500 chr8 104898121 104898121 A G rs746233509 RIMS2 Nonsynonymous SNV S240G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 23.4 245501 chr8 105368354 105368354 T C rs71520881 DCSTAMP Nonsynonymous SNV F277S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 245502 chr12 94072798 94072798 G A CRADD Nonsynonymous SNV R83K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 245503 chr3 132322092 132322092 G C rs895015477 ACAD11 Synonymous SNV G534G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.178 245504 chr3 133099597 133099597 A G TMEM108 Nonsynonymous SNV T348A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 245505 chr7 142983233 142983233 G A rs765903986 TMEM139 Stop gain W61X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 245506 chr8 133090092 133090092 C T rs192941170 HHLA1 Nonsynonymous SNV R351H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.241 245507 chr13 103389696 103389698 CTT - rs748656020 CCDC168 E4450del 0.002 0 0 0 2 0 0 0 0 0 0 0 245508 chr1 151111117 151111117 G A rs145677368 SEMA6C Nonsynonymous SNV R149C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 245509 chr1 151395994 151395994 G A rs141026698 POGZ Synonymous SNV L424L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.5 245510 chr8 134052277 134052277 G A rs375750625 SLA Nonsynonymous SNV R168C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 245511 chr8 134144164 134144164 G C TG Nonsynonymous SNV Q2657H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 245512 chr8 142222347 142222347 C T SLC45A4 Synonymous SNV L699L 0 0.005 0 0 0 2 0 0 0 0 0 0 2.548 245513 chr7 150554423 150554423 G A rs765264205 AOC1 Nonsynonymous SNV G289R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 245514 chrX 105280505 105280505 T C SERPINA7 Nonsynonymous SNV K182R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.42 245515 chr8 144662251 144662251 C A rs138717476 EEF1D Nonsynonymous SNV Q222H 0 0.005 0.003 0 0 2 0 1 0 0 0 0 26.5 245516 chr1 1558958 1558958 C T rs369726730 MIB2 Synonymous SNV H100H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.29 245517 chr1 156622510 156622510 G T rs369853236 BCAN Nonsynonymous SNV G590C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 245518 chr1 156846336 156846336 C T rs781209572 NTRK1 Nonsynonymous SNV R587W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 245519 chr8 144990912 144990912 G A rs782380080 PLEC Synonymous SNV F4345F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.03 245520 chr1 157665852 157665852 C T rs138219281 FCRL3 Synonymous SNV T370T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.19 245521 chr2 131099471 131099471 G A CCDC115 Nonsynonymous SNV S48L 0 0 0 2 0 0 0.005 0 0 0 0 0 27.2 245522 chr8 145514978 145514978 T G BOP1 Nonsynonymous SNV E25D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 245523 chr2 136682043 136682043 C T rs141522501 DARS1 Nonsynonymous SNV R97H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 245524 chr8 146203273 146203273 G C ZNF252P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.413 245525 chr8 17916856 17916856 G T rs764889509 ASAH1 Nonsynonymous SNV S339R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.3 245526 chr3 196454940 196454940 G A rs547370958 PIGX Synonymous SNV P155P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 245527 chr7 37903982 37903982 G A NME8 Nonsynonymous SNV D163N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 245528 chr1 162381703 162381703 G T SH2D1B Stop gain S35X 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 39 245529 chr8 19316053 19316053 G A rs142456632 CSGALNACT1 Synonymous SNV F245F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 245530 chr1 6696232 6696232 G A rs139008319 DNAJC11 Synonymous SNV G533G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.42 245531 chr3 25833051 25833051 C T rs139719761 OXSM Synonymous SNV V180V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 245532 chr20 33297060 33297060 A G rs899215463 TP53INP2 Nonsynonymous SNV S49G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.47 245533 chr1 11190698 11190709 GTGGTGGCGGCA - rs571156267 MTOR T1834_T1837del 0.003 0 0 0 4 0 0 0 0 0 0 0 245534 chr2 167138288 167138288 G A rs200174262 SCN9A Nonsynonymous SNV R669C 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 245535 chr1 169822063 169822063 A G rs558935927 C1orf112 Nonsynonymous SNV M510V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 245536 chr3 38802222 38802222 A G SCN10A Synonymous SNV N300N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 245537 chr6 116442135 116442135 G A COL10A1 Nonsynonymous SNV P382S 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.04 245538 chr7 4917716 4917716 G A rs756369014 RADIL Nonsynonymous SNV R19W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 245539 chr8 2813120 2813120 C T CSMD1 Nonsynonymous SNV V3329M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 245540 chr8 28573810 28573810 C T rs200105783 EXTL3 Synonymous SNV H78H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.776 245541 chr8 32621688 32621688 G A rs376169851 NRG1 Nonsynonymous SNV S407N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.761 245542 chr3 44683978 44683978 A G rs139142373 ZNF197, ZNF660-ZNF197 Synonymous SNV K239K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.266 245543 chr8 31004607 31004607 C T rs139323683 WRN Nonsynonymous SNV S1141L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.281 245544 chr6 130370467 130370467 A G L3MBTL3 Nonsynonymous SNV D48G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 245545 chr7 64864426 64864426 A G rs143444213 ZNF92 Nonsynonymous SNV T391A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.023 245546 chr1 20417080 20417080 T C rs149833360 PLA2G5 Synonymous SNV H104H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 245547 chr1 20517551 20517551 G A rs780274676 UBXN10 Nonsynonymous SNV R166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 245548 chr3 48732733 48732733 C T rs200143726 IP6K2 Nonsynonymous SNV A53T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.17 245549 chr8 67341640 67341640 C T rs576594281 RRS1 Synonymous SNV L92L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 245550 chr8 68172098 68172098 T A ARFGEF1 Synonymous SNV T729T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.36 245551 chr8 688994 688994 - CGCCGC rs142461927 LOC401442 0 0 0.014 0 0 0 0 4 0 0 2 0 245552 chr3 49694230 49694230 G A rs148674638 BSN Nonsynonymous SNV R2414Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23 245553 chr1 186388180 186388180 G C rs182322254 ODR4 Nonsynonymous SNV G423A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.313 245554 chr8 80677963 80677963 C T rs149646861 HEY1 Synonymous SNV L35L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.96 245555 chr7 91747840 91747840 A C rs751231020 CYP51A1 Synonymous SNV T392T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.02 245556 chr1 26629342 26629342 G A rs117509001 UBXN11 Synonymous SNV T11T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 245557 chr7 99754100 99754100 G A rs773704978 MAP11 Synonymous SNV Y114Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.053 245558 chr1 27720470 27720470 C T rs137856818 GPR3 Synonymous SNV C56C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.586 245559 chr1 28075662 28075662 A G rs140736240 FAM76A Nonsynonymous SNV D199G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 245560 chr3 62240872 62240872 G C rs749688474 PTPRG Synonymous SNV G847G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.4 245561 chr2 20823720 20823720 C T rs369503300 HS1BP3 Nonsynonymous SNV A286T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.22 245562 chr3 73433242 73433242 G A PDZRN3 Synonymous SNV S523S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 245563 chr1 203667459 203667459 G A rs114358697 ATP2B4 Nonsynonymous SNV R123H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.35 245564 chr1 35227355 35227355 A G GJB4 Nonsynonymous SNV E167G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.002 245565 chr9 113496628 113496628 C A rs754228233 MUSK Synonymous SNV T242T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.27 245566 chr1 36026551 36026551 C T rs777301908 NCDN Nonsynonymous SNV R250C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 245567 chr9 112166809 112166809 C T rs371992176 PTPN3 Synonymous SNV P292P 0 0 0.007 0 0 0 0 2 0 0 0 0 15.86 245568 chr9 114176250 114176250 G A rs181657533 ECPAS Synonymous SNV Y668Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.716 245569 chr8 11628971 11628971 G A rs371873253 NEIL2 Synonymous SNV P5P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 245570 chr9 115935873 115935873 G C rs187714009 FKBP15 Nonsynonymous SNV Q798E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 245571 chr9 116812291 116812291 C T rs372771757 ZNF618 Synonymous SNV L870L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 245572 chr9 116824997 116824997 T - AMBP G217Vfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 245573 chr1 42880488 42880488 A G rs375462061 RIMKLA Nonsynonymous SNV Y340C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.97 245574 chr2 220473396 220473396 C T STK11IP Synonymous SNV H565H 0 0 0 2 0 0 0.005 0 0 0 0 0 16.54 245575 chr1 2116886 2116886 G A rs776004117 FAAP20 Nonsynonymous SNV A134V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.624 245576 chr21 45540264 45540264 C T rs139322288 LOC102724159, PWP2 Synonymous SNV F408F 0.003 0 0 0 3 0 0 0 0 0 0 0 15.93 245577 chr9 125551240 125551240 C T rs200687612 OR5C1 Nonsynonymous SNV A10V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.034 245578 chr1 45851627 45851627 A G rs79912007 TESK2 Nonsynonymous SNV M34T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 245579 chr1 22160001 22160001 C T rs112062179 HSPG2 Nonsynonymous SNV R3647H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 245580 chr9 71835817 71835817 C T rs753087955 TJP2 Synonymous SNV P123P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.8 245581 chr1 49100210 49100210 G C rs12091956 AGBL4 Synonymous SNV T314T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.209 245582 chr1 49128904 49128904 C T rs75333004 AGBL4 Nonsynonymous SNV R227Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 245583 chr1 52260190 52260190 G A rs377054780 NRDC Nonsynonymous SNV A910V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 245584 chr1 52299744 52299744 G A NRDC Nonsynonymous SNV R271C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 245585 chr1 53308588 53308588 C T ZYG11A Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 245586 chr9 131095786 131095786 A T rs145991065 COQ4 Synonymous SNV P220P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.743 245587 chr9 131193541 131193541 G A rs767230814 CERCAM Nonsynonymous SNV E310K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 245588 chr14 74527347 74527347 A T rs780217092 ALDH6A1 X523K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.52 245589 chr1 55100388 55100388 C T ACOT11 Nonsynonymous SNV L604F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.302 245590 chr1 57422472 57422472 G A rs150022116 C8B Stop gain R121X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 38 245591 chr9 135668064 135668064 C T rs769228074 AK8 Nonsynonymous SNV D156N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 245592 chr9 135772662 135772662 T C TSC1 Nonsynonymous SNV I911V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 11.27 245593 chr9 138236252 138236252 A - rs754125403 C9orf62 X153X 0 0 0.003 0 0 0 0 1 0 0 0 0 245594 chr8 145738493 145738493 T C rs754324912 RECQL4 Nonsynonymous SNV H831R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 245595 chr1 78338722 78338722 A G rs180835894 MIGA1 Nonsynonymous SNV I534V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 245596 chr22 30803097 30803097 G A rs774075947 SEC14L2 Nonsynonymous SNV R9Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 245597 chr1 85547050 85547050 C T rs12088304 WDR63 Synonymous SNV R79R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 1.915 245598 chr9 16215773 16215773 C A rs976611304 C9orf92 Nonsynonymous SNV A63S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 245599 chr22 39262381 39262381 A C CBX6 Nonsynonymous SNV W340G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 245600 chr1 100572547 100572547 T C rs765459209 SASS6 Synonymous SNV V276V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.396 245601 chr9 2811409 2811409 G A rs755513949 PUM3 Synonymous SNV I529I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 245602 chr1 111144731 111144731 T C KCNA2 Nonsynonymous SNV H319R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.596 245603 chr1 111492546 111492546 G C rs774989809 LRIF1 Nonsynonymous SNV S63C 0.002 0 0 0 2 0 0 0 0 0 0 0 18.91 245604 chr8 43053003 43053003 C T rs377050184 HGSNAT Nonsynonymous SNV T481M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 245605 chr15 43028556 43028556 G A CDAN1 Synonymous SNV N171N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.78 245606 chr9 35674139 35674139 C T rs377058222 CA9 Synonymous SNV G61G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.2 245607 chr9 35682117 35682117 C G TPM2 Nonsynonymous SNV Q272H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.1 245608 chr15 43351994 43351994 T C rs564328078 UBR1 Synonymous SNV P297P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 0.156 245609 chr9 78722196 78722196 G A rs41310061 PCSK5 Synonymous SNV T379T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.44 245610 chr9 79792644 79792644 G A rs143617269 VPS13A Synonymous SNV V8V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 245611 chr9 420563 420563 G T rs141863163 DOCK8 Nonsynonymous SNV V1235L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Uncertain significance 22.6 245612 chr9 4561535 4561535 A T rs767371718 SLC1A1 Nonsynonymous SNV I107F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 22.6 245613 chr9 713298 713298 C T rs921712165 KANK1 Synonymous SNV N686N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 245614 chr1 29605546 29605546 G A PTPRU Synonymous SNV E492E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.916 245615 chr9 96259804 96259804 G A rs747697022 FAM120A Nonsynonymous SNV V286I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 245616 chrM 1721 1721 G A RNR2 0 0 0.054 0 0 0 0 16 0 0 8 0 245617 chrUn_gl000219 56621 56621 - C LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 245618 chrUn_gl000219 56691 56691 T C LOC105379477, LOC283788 0 0 0.007 0 0 0 0 2 0 0 1 0 245619 chr1 153914711 153914711 G A rs754754997 DENND4B Synonymous SNV P265P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 245620 chrX 106841057 106841059 GAG - rs765779456 FRMPD3 E689del 0 0 0.003 0 0 0 0 1 0 0 0 0 245621 chr2 98275011 98275011 G C rs200965492 ACTR1B Nonsynonymous SNV S179C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 245622 chr1 3639946 3639946 C T TP73 Synonymous SNV I166I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 245623 chr1 155154360 155154360 G A rs763230919 TRIM46 Nonsynonymous SNV A415T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.814 245624 chr1 155932468 155932468 C T rs374240676 ARHGEF2 Synonymous SNV S339S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 245625 chr1 39466645 39466645 T G rs572114400 AKIRIN1 Synonymous SNV G121G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.55 245626 chrX 138827937 138827937 A G rs777164604 ATP11C Nonsynonymous SNV F973L 0 0 0.007 0 0 0 0 2 0 0 1 0 25.4 245627 chr9 111678494 111678494 C T rs148917889 ELP1 Synonymous SNV P202P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.32 245628 chrX 66765161 66765161 - GCAGCAGCAGCA AR Q80_E81insQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 245629 chr1 43308845 43308845 T C ERMAP Nonsynonymous SNV L457P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.15 245630 chrX 108708433 108708433 A G rs73248160 GUCY2F Nonsynonymous SNV Y324H 0.003 0.003 0 0 4 1 0 0 1 0 0 0 13.22 245631 chr1 44069771 44069771 C A PTPRF Nonsynonymous SNV T974N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 245632 chrX 16887688 16887688 A G rs965419417 RBBP7 Nonsynonymous SNV L26P 0.001 0 0.01 0 1 0 0 3 0 0 1 0 22.6 245633 chr1 44083222 44083222 T C rs776101253 PTPRF Nonsynonymous SNV I1089T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.3 245634 chr9 117124168 117124168 C T rs142298734 AKNA Nonsynonymous SNV R528H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 245635 chrX 2945389 2945389 C T rs146832237 ARSH Nonsynonymous SNV R358C 0 0.003 0.007 0 0 1 0 2 0 0 1 0 Benign 29.4 245636 chr1 45469207 45469207 T C HECTD3 Nonsynonymous SNV N848S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 245637 chr1 45501772 45501772 C T rs184232330 ZSWIM5 Synonymous SNV E698E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.14 245638 chr3 121168167 121168167 T C rs150364457 POLQ Nonsynonymous SNV Y2420C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.4 245639 chr1 161693162 161693162 C T rs761037865 FCRLB Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 245640 chr3 122880276 122880276 G T rs143043425 PDIA5 Nonsynonymous SNV A485S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.079 245641 chrX 140993961 140993961 G C rs143440588 MAGEC1 Nonsynonymous SNV Q257H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.316 245642 chrX 153171061 153171061 C T rs781991255 AVPR2 Nonsynonymous SNV P34L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.154 245643 chrX 153247641 153247641 C T rs781946877 TMEM187 Nonsynonymous SNV A43V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.274 245644 chr10 101829500 101829500 G A rs139640366 CPN1 Synonymous SNV L183L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.312 245645 chrX 151138729 151138729 G A rs769273711 GABRE Synonymous SNV L68L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.742 245646 chr10 104158042 104158042 T C rs199585223 NFKB2 Synonymous SNV D280D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.16 245647 chrX 35820598 35820598 T C MAGEB16 Synonymous SNV S95S 0.003 0.008 0 0 3 3 0 0 1 1 0 0 0.037 245648 chr1 64095143 64095143 T A rs777459281 PGM1 Synonymous SNV A116A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.74 245649 chrX 35971821 35971821 T G CFAP47 Nonsynonymous SNV Y387D 0.003 0.003 0 0 3 1 0 0 1 0 0 0 5.791 245650 chr3 13407528 13407528 G C rs776761192 NUP210 Nonsynonymous SNV S617C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 245651 chr5 130815276 130815276 C A RAPGEF6 Nonsynonymous SNV G671C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 245652 chr1 1309583 1309583 G A rs200538990 AURKAIP1 Stop gain Q99X 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 245653 chr1 1309584 1309584 C A rs369820135 AURKAIP1 Synonymous SNV P98P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 245654 chrX 67940136 67940136 G T STARD8 Nonsynonymous SNV K560N 0 0.008 0 0 0 3 0 0 0 1 0 0 26.3 245655 chr1 196977731 196977731 T A rs775126222 CFHR5 Nonsynonymous SNV F543Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 245656 chrX 71801001 71801001 T C rs201573707 PHKA1 Nonsynonymous SNV M1103V 0.001 0.008 0 0 1 3 0 0 0 1 0 0 Benign 12.81 245657 chrX 75648466 75648466 G C MAGEE1 Nonsynonymous SNV G48A 0.001 0.008 0 0 1 3 0 0 0 1 0 0 6.764 245658 chrX 77041472 77041472 T C rs782080475 ATRX Nonsynonymous SNV M6V 0.003 0.003 0 0 3 1 0 0 1 0 0 0 Uncertain significance 11.92 245659 chr5 136448205 136448205 C T rs144155642 SPOCK1 Synonymous SNV S131S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 245660 chrX 84363383 84363383 C A SATL1 Nonsynonymous SNV V198L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.003 245661 chrX 88008441 88008441 G T CPXCR1 Nonsynonymous SNV S9I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 245662 chr16 1569983 1569983 G C IFT140 Nonsynonymous SNV C1313W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 245663 chr16 1576667 1576667 C G rs768971224 IFT140 Nonsynonymous SNV E844Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.08 245664 chr16 1634347 1634347 C T rs199840711 IFT140 Synonymous SNV S410S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.4 245665 chr1 202935981 202935981 G A CYB5R1 Nonsynonymous SNV L21F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 245666 chr10 49658448 49658448 G A rs78120740 ARHGAP22 Nonsynonymous SNV A485V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.451 245667 chr1 203143658 203143658 A G MYBPH Synonymous SNV A136A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.831 245668 chr3 165548010 165548010 G A rs28933389 BCHE Nonsynonymous SNV T271M 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely pathogenic 25 245669 chr5 140263200 140263200 C T PCDHA13 Synonymous SNV N449N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 245670 chr1 92755766 92755766 G C rs781713538 GLMN Nonsynonymous SNV P128R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 245671 chr5 140741236 140741236 G C PCDHGB2 Nonsynonymous SNV G512R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 245672 chr1 94354636 94354636 C G rs79501187 GCLM Synonymous SNV L223L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 245673 chr10 115534690 115534690 A G rs148184240 PLEKHS1 Synonymous SNV S207S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.021 245674 chr10 115804008 115804008 C T rs371084372 ADRB1 Synonymous SNV P39P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.62 245675 chr1 222826363 222826363 T G rs776475579 MIA3 Nonsynonymous SNV I245S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 245676 chr20 18131563 18131563 T C rs2026022 KAT14 Synonymous SNV H159H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.485 245677 chr10 31134426 31134426 G A rs146555674 ZNF438 Nonsynonymous SNV R651C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 245678 chr1 19950076 19950076 A G rs756947310 MICOS10 Nonsynonymous SNV K58R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 245679 chr7 53103885 53103885 C T rs201563022 POM121L12 Nonsynonymous SNV T174I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.79 245680 chr10 124376760 124376760 T A rs200632336 DMBT1 Synonymous SNV S868S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.106 245681 chr10 124376762 124376762 G A rs148891350 DMBT1 Nonsynonymous SNV R869H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.018 245682 chr10 124746393 124746393 C T rs200929556 PSTK Synonymous SNV D264D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.771 245683 chr10 373069 373069 C T rs778739926 DIP2C Synonymous SNV A1267A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.724 245684 chr5 154092616 154092616 C T rs148235669 LARP1 Nonsynonymous SNV A44V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.36 245685 chr10 88419722 88419722 G A rs375395379 OPN4 Nonsynonymous SNV E291K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 245686 chr1 24448225 24448225 G A rs151301157 IL22RA1 Synonymous SNV N265N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.585 245687 chr16 4897249 4897249 C A rs550532519 GLYR1 Synonymous SNV L6L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.46 245688 chr9 85881968 85881968 C T rs747092578 FRMD3 Nonsynonymous SNV R42H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.3 245689 chr1 230916004 230916004 A G rs28359685 CAPN9 Synonymous SNV V335V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.389 245690 chr9 88692457 88692457 C T rs149085096 GOLM1 Nonsynonymous SNV R60K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29 245691 chr1 231362543 231362543 T C rs749350221 C1orf131 Nonsynonymous SNV K211R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 245692 chr10 50945890 50945890 T G rs41281971 OGDHL Synonymous SNV T635T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.139 245693 chr9 95022479 95022479 G T IARS1 Nonsynonymous SNV P609T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28 245694 chr10 55566853 55566853 C T rs762452325 PCDH15 Nonsynonymous SNV R1505Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 245695 chr10 55569202 55569202 T G rs16937769 PCDH15 Synonymous SNV T1534T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.184 245696 chr9 95840259 95840259 C T rs61755326 SUSD3 Nonsynonymous SNV R74W 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 26.9 245697 chr10 63450379 63450379 G A rs35796382 CABCOCO1 Synonymous SNV E96E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 245698 chr10 17087095 17087095 A G CUBN Synonymous SNV L1195L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 245699 chr20 3842058 3842058 G A rs571225647 MAVS Synonymous SNV A124A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.358 245700 chr5 178506725 178506740 GGAAAATTCATACTGG - ZNF354C I433Nfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 245701 chr1 34663203 34663203 A G rs983048738 C1orf94 Nonsynonymous SNV N233S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.112 245702 chr3 43122253 43122253 C - POMGNT2 G224Afs*48 0 0 0 2 0 0 0.005 0 0 0 0 0 245703 chr1 37267502 37267502 C T rs761141413 GRIK3 Nonsynonymous SNV G904S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 245704 chr10 74620221 74620221 C T rs148854509 MCU Synonymous SNV L144L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 245705 chr1 40363417 40363417 T G rs771327880 MYCL Nonsynonymous SNV D241A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.648 245706 chr1 40961562 40961562 G T ZFP69 Nonsynonymous SNV R472L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 245707 chr20 47307543 47307543 C G rs141690733 PREX1 Synonymous SNV T376T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.57 245708 chr10 82126470 82126470 G A rs377743136 DYDC2 Synonymous SNV T99T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.322 245709 chr5 32710833 32710833 G A NPR3 Nonsynonymous SNV G22D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 245710 chr20 48522167 48522167 C T rs147213348 SPATA2 Nonsynonymous SNV V518M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 245711 chr2 8931329 8931329 G A rs542165847 KIDINS220 Synonymous SNV D435D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.927 245712 chr20 55758879 55758879 A G rs765543990 BMP7 Nonsynonymous SNV V286A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 245713 chr11 101849177 101849177 G A rs776815069 CEP126 Nonsynonymous SNV S982N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.016 245714 chr11 1023530 1023530 C T rs150335826 MUC6 Nonsynonymous SNV V1169I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 245715 chr1 47882574 47882574 G C rs281865461 FOXE3 Nonsynonymous SNV G196A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 10.22 245716 chr2 15534355 15534355 G A rs768230462 NBAS Nonsynonymous SNV R1085W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 245717 chrX 154159249 154159249 G A F8 Nonsynonymous SNV T939I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 245718 chrX 17745136 17745136 G A rs771243823 NHS Synonymous SNV T772T 0.003 0 0 0 4 0 0 0 0 0 0 0 7.724 245719 chr16 843165 843165 C T rs200233056 CHTF18 Nonsynonymous SNV R565W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.2 245720 chr1 53930350 53930350 - GCCGCC rs766613980 DMRTB1 P270_L271insPP 0 0.003 0 0 0 1 0 0 0 0 0 0 245721 chr1 54605698 54605698 C T rs147725209 CDCP2 Nonsynonymous SNV R282H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 20.9 245722 chr1 55073718 55073718 C T rs769433160 ACOT11 Nonsynonymous SNV R536C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 245723 chr2 23865407 23865407 G A rs374545451 KLHL29 Synonymous SNV P209P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 245724 chr16 8736411 8736411 G A rs576514655 METTL22 Synonymous SNV S333S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.903 245725 chrX 54777667 54777667 G A ITIH6 Stop gain R1167X 0.002 0 0 0 2 0 0 0 0 0 0 0 34 245726 chr1 64095220 64095220 A G rs367689770 PGM1 Nonsynonymous SNV N142S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 245727 chr11 118502007 118502007 C T rs200220415 PHLDB1 Synonymous SNV P637P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 245728 chr1 68955219 68955219 G A DEPDC1 Synonymous SNV N129N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.055 245729 chr5 78293955 78293955 C T rs536965932 DMGDH Nonsynonymous SNV E851K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 245730 chr2 32422809 32422809 C T rs780041165 SLC30A6 Synonymous SNV I119I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.29 245731 chr1 899907 899907 G T KLHL17 Nonsynonymous SNV R566L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 245732 chr1 1250972 1250972 G A rs367722064 INTS11 Synonymous SNV A54A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 245733 chr4 106580227 106580227 G A ARHGEF38 Nonsynonymous SNV R417K 0 0 0 4 0 0 0.01 0 0 0 0 0 9.42 245734 chr2 47637246 47637246 A G rs17217772 MSH2 Nonsynonymous SNV N127S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 245735 chr17 16852186 16852186 C T rs72553879 TNFRSF13B Nonsynonymous SNV C104Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 28.7 245736 chr11 116718215 116718215 T G rs747970397 SIK3 Nonsynonymous SNV Q1202P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 245737 chr4 113539914 113539914 T C rs141297803 ZGRF1 Synonymous SNV L428L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.121 245738 chr11 119216506 119216506 C A rs748646897 MFRP Nonsynonymous SNV G135V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 245739 chr2 70528836 70528836 G A FAM136A Nonsynonymous SNV P103L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.252 245740 chr2 70933570 70933570 G C rs782480420 ADD2 Nonsynonymous SNV P7A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 245741 chr2 71192103 71192103 G A rs142905621 ATP6V1B1 Nonsynonymous SNV R465H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 245742 chr1 109837776 109837776 G A rs371838903 MYBPHL Synonymous SNV N337N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.555 245743 chr1 111059926 111059926 T G KCNA10 Nonsynonymous SNV D495A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.715 245744 chr2 84924796 84924796 C T rs183315670 DNAH6 Nonsynonymous SNV A2541V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 245745 chr2 84954855 84954855 A G rs192574147 DNAH6 Synonymous SNV V3345V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.358 245746 chr1 116577945 116577945 A C rs779904656 SLC22A15 Nonsynonymous SNV K361T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.65 245747 chr11 125864775 125864775 T C rs149843751 CDON Synonymous SNV L845L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.871 245748 chr1 117552805 117552805 C A rs150988152 CD101 Nonsynonymous SNV T126N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 245749 chr1 117564416 117564416 A G rs146628892 CD101 Nonsynonymous SNV R747G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 245750 chr1 117620657 117620657 G A rs374345000 TTF2 Nonsynonymous SNV G565R 0 0.005 0 0 0 2 0 0 0 0 0 0 33 245751 chr1 117654963 117654963 G A rs74899279 TRIM45 Synonymous SNV S551S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.814 245752 chr1 118623829 118623829 T C rs373068220 SPAG17 Nonsynonymous SNV M702V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 245753 chr1 119575837 119575837 C G rs1046483463 WARS2 Synonymous SNV S260S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.19 245754 chr1 119923724 119923724 T G rs2275607 HAO2 Nonsynonymous SNV L6V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 245755 chr1 119923751 119923751 G A rs34638261 HAO2 Nonsynonymous SNV E15K 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.113 245756 chr6 133072396 133072396 T G VNN2 Nonsynonymous SNV K363T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 245757 chr2 95941834 95941834 C T PROM2 Nonsynonymous SNV R151C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 245758 chr2 97514097 97514097 G A rs969362682 ANKRD39 Nonsynonymous SNV R165W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 245759 chr1 144930805 144930805 G C rs146236310 PDE4DIP Nonsynonymous SNV P302A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 245760 chr6 139694694 139694694 G A rs771034141 CITED2 Nonsynonymous SNV P130S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 245761 chr1 144946701 144946701 C T rs77741848 PDE4DIP Nonsynonymous SNV R187K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.011 245762 chr11 133768460 133768460 C T rs748950280 MIR4697, MIR4697HG 0 0 0.003 0 0 0 0 1 0 0 0 0 2.938 245763 chr1 145587453 145587453 G A rs142717400 NUDT17 Synonymous SNV S209S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.04 245764 chr11 14808098 14808098 G A PDE3B Nonsynonymous SNV S382N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 245765 chr22 19348835 19348835 C T rs376218801 HIRA Synonymous SNV E670E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 245766 chr1 150234971 150234971 G A rs74126633 CA14 Synonymous SNV E149E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 9.989 245767 chr1 150249038 150249038 C A rs782575298 C1orf54 Nonsynonymous SNV P72T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.161 245768 chr1 151261878 151261878 C T rs146722973 ZNF687 Synonymous SNV C832C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 245769 chr1 151262972 151262972 C T rs777180312 ZNF687 Nonsynonymous SNV R1048W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 245770 chr4 187510219 187510219 C T FAT1 Nonsynonymous SNV E4432K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.4 245771 chr22 22049735 22049737 AAG - rs749873803 PPIL2 K509del 0 0 0 1 0 0 0.003 0 0 0 0 0 245772 chr1 152275559 152275559 A G rs3126065 FLG Nonsynonymous SNV S3935P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.12 245773 chr1 152287307 152287307 C G rs3126082 FLG-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.276 245774 chr1 21582604 21582604 C T rs754787083 ECE1 Nonsynonymous SNV V274I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 245775 chr1 152671600 152671600 C T rs201971844 LCE2A Nonsynonymous SNV R75C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.5 245776 chr4 25366649 25366649 A G ZCCHC4 Nonsynonymous SNV I423V 0 0 0 2 0 0 0.005 0 0 0 0 0 12.01 245777 chr22 26291205 26291205 G A MYO18B Synonymous SNV R1543R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.12 245778 chr6 159084371 159084371 G A rs371220640 SYTL3 Nonsynonymous SNV R24Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 245779 chr11 2909502 2909502 G A rs928655203 SLC22A18AS Nonsynonymous SNV P121S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 245780 chr2 128394931 128394931 A G MYO7B Nonsynonymous SNV Q2097R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 245781 chr1 155018682 155018682 G C rs1021918610 DCST1 Nonsynonymous SNV E427Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 245782 chr6 159655281 159655281 C G rs114185167 FNDC1 Nonsynonymous SNV P1246R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 245783 chr1 28802729 28802731 AGA - rs759452288 PHACTR4 K522del 0.001 0 0 0 1 0 0 0 0 0 0 0 245784 chr11 40136897 40136897 T C LRRC4C Nonsynonymous SNV I316V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 245785 chr9 113171165 113171165 C T rs771664102 SVEP1 Nonsynonymous SNV G2239R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.1 245786 chr2 152553170 152553170 T C rs199710125 NEB Nonsynonymous SNV N517S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 245787 chr11 46726700 46726700 C T rs777516867 ZNF408 Nonsynonymous SNV R476W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 245788 chr2 158272220 158272220 C T rs117488425 CYTIP Nonsynonymous SNV R350H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 245789 chr2 159166135 159166135 T A rs145531516 CCDC148 Nonsynonymous SNV Y161F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 23.8 245790 chr2 159196772 159196772 G C rs137873189 CCDC148 Synonymous SNV S156S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.038 245791 chr6 170871016 170871016 - CAGCAGCAG TBP Q75_A76insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 245792 chr2 160080769 160080769 C T rs77560524 TANC1 Synonymous SNV A1034A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 245793 chr4 57840027 57840027 C T rs370816016 NOA1 Nonsynonymous SNV V436I 0 0 0 2 0 0 0.005 0 0 0 0 0 16.89 245794 chr1 160143425 160143425 G A rs765444294 ATP1A4 Nonsynonymous SNV V637M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 245795 chr1 161166599 161166599 A C rs997645411 ADAMTS4 Synonymous SNV G235G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 245796 chr1 40882507 40882507 C T rs746441096 SMAP2 Synonymous SNV P271P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.378 245797 chr6 26017691 26017691 C A rs756903690 H1-1 Synonymous SNV L90L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.64 245798 chr1 169510937 169510937 G A rs371564573 F5 Nonsynonymous SNV P1131S 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.579 245799 chr22 43831005 43831005 C T rs190477732 MPPED1 Synonymous SNV F92F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 245800 chr2 169707827 169707827 C T rs35477906 NOSTRIN Synonymous SNV D228D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.154 245801 chr2 169791843 169791843 C T rs201881755 ABCB11 Synonymous SNV K969K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.99 245802 chr9 125281780 125281780 G A rs116874912 OR1J4 Nonsynonymous SNV D121N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 245803 chr2 170030506 170030506 C T rs142549310 LRP2 Nonsynonymous SNV R3646H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.26 245804 chr9 125330021 125330021 G A rs117612088 OR1L8 Nonsynonymous SNV L246F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.3 245805 chr4 73944411 73944411 T C rs748148031 ANKRD17 Synonymous SNV T2201T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.633 245806 chr9 125551678 125551678 G A rs150938292 OR5C1 Nonsynonymous SNV G156E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 245807 chr2 176046092 176046092 G A rs200580954 ATP5MC3 Synonymous SNV T10T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 245808 chr2 177053754 177053754 G A rs780612181 HOXD1 Synonymous SNV P75P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 245809 chr1 47905210 47905210 G T rs377639207 FOXD2 Nonsynonymous SNV R468L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 245810 chr4 79240131 79240131 A C rs345512 FRAS1 Nonsynonymous SNV I710L 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.02 245811 chr4 80899204 80899204 G T rs751742912 ANTXR2 Nonsynonymous SNV P435H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.13 245812 chr1 180886990 180886990 G A rs201506771 KIAA1614 Nonsynonymous SNV R334Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.389 245813 chr2 100010998 100010998 G A rs780804669 EIF5B Synonymous SNV V1013V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.46 245814 chr6 37141856 37141856 C A rs36084391 PIM1 Nonsynonymous SNV P402T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 0.053 245815 chr1 59148011 59148011 T C rs767663219 MYSM1 Synonymous SNV Q235Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.344 245816 chr11 55746603 55746603 G A rs61896254 OR7E5P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.905 245817 chr4 89039333 89039333 T G ABCG2 Nonsynonymous SNV T257P 0 0 0 2 0 0 0.005 0 0 0 0 0 28.7 245818 chr1 62737154 62737154 C G KANK4 Nonsynonymous SNV G42R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 245819 chr6 41196219 41196219 C T rs144478385 TREML4 Synonymous SNV S18S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 245820 chr6 41196223 41196223 C - rs777257478 TREML4 P20Lfs*77 0.001 0 0 0 1 0 0 0 0 0 0 0 245821 chr6 41196226 41196226 C T rs137895893 TREML4 Stop gain Q21X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 245822 chr11 27078769 27078769 G A rs147348000 BBOX1 Nonsynonymous SNV E81K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.81 245823 chr1 78001652 78001652 C T rs144951885 AK5 Nonsynonymous SNV R491C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 245824 chr11 3723730 3723730 C T rs148101240 NUP98 Nonsynonymous SNV E1112K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.15 245825 chr11 4388879 4388879 A G rs61732898 OR52B4 Nonsynonymous SNV I216T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.57 245826 chr11 57317522 57317522 A G rs117673759 SMTNL1 Synonymous SNV T474T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.492 245827 chr2 219508199 219508199 C T rs201639604 ZNF142 Nonsynonymous SNV E1014K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.498 245828 chr11 58275364 58275364 G C OR5B21 Stop gain S72X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 245829 chr1 100382249 100382249 T G rs763400653 AGL Synonymous SNV V1481V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.6 245830 chr2 219694877 219694877 G T rs35050588 PRKAG3 Nonsynonymous SNV L153M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.949 245831 chr2 219868991 219868991 C T rs79858834 CFAP65 Synonymous SNV P1746P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.28 245832 chr5 13807706 13807706 C T rs369279743 DNAH5 Nonsynonymous SNV M2627I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 21.3 245833 chr2 220315883 220315883 C T rs762151370 SPEG Synonymous SNV S713S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 245834 chr11 59733091 59733091 G A OOSP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.083 245835 chr2 220348877 220348877 C A rs183551699 SPEG Nonsynonymous SNV P2231H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.01 245836 chr2 220361102 220361102 A T rs113498803 SPEGNB Nonsynonymous SNV K9M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.99 245837 chr2 220379827 220379827 A G rs36089490 ASIC4 Synonymous SNV A254A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.627 245838 chr2 220397072 220397072 C T rs34784127 ASIC4 Synonymous SNV R424R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.844 245839 chr2 220421395 220421395 C T rs140214067 OBSL1 Nonsynonymous SNV E1373K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 245840 chr11 60640854 60640854 C T rs201546163 ZP1 Nonsynonymous SNV T416I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 245841 chr2 220471484 220471484 A G rs190706143 STK11IP Synonymous SNV P346P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.619 245842 chr6 7584173 7584173 T A rs149070106 DSP Synonymous SNV G1627G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.286 245843 chr11 61094279 61094279 G A rs754810752 DDB1 Synonymous SNV V212V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 245844 chr2 169764220 169764220 G A rs144077223 G6PC2 Synonymous SNV L233L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.708 245845 chr2 170666922 170666922 G A SSB Nonsynonymous SNV G267R 0 0 0 1 0 0 0.003 0 0 0 0 0 32 245846 chr11 62290245 62290245 G C rs201212781 AHNAK Nonsynonymous SNV L3882V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.953 245847 chr1 115216695 115216695 C T rs771050676 AMPD1 Synonymous SNV V632V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 245848 chr2 231865158 231865158 G A rs370099747 SPATA3 Nonsynonymous SNV G127R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 245849 chr9 35846943 35846943 G C TMEM8B Nonsynonymous SNV R257P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 245850 chr11 62299311 62299311 C T rs200147726 AHNAK Nonsynonymous SNV D860N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.3 245851 chr11 62488794 62488794 C T rs200608017 HNRNPUL2 Synonymous SNV R528R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 245852 chr11 62530402 62530402 C T rs141251020 POLR2G Synonymous SNV G62G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 245853 chr6 99852483 99852483 C T rs148846721 PNISR Synonymous SNV T366T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.22 245854 chr2 234389917 234389919 ATC - rs10581559 USP40 D1176del 0.002 0 0 0 2 0 0 0 0 0 0 0 245855 chr2 179438523 179438523 T A TTN Nonsynonymous SNV K15047N 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.04 245856 chr2 179530128 179530128 C G rs761660130 TTN Nonsynonymous SNV E12007Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 1.038 245857 chr11 63979153 63979153 C T rs779359609 FERMT3 Synonymous SNV G240G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.97 245858 chr11 64415766 64415766 C T rs769064811 NRXN2 Nonsynonymous SNV V1070I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 245859 chr1 151747244 151747245 AG - rs756735981 TDRKH T525Rfs*27 0.001 0 0 1 1 0 0.003 0 0 0 0 0 245860 chr1 241823939 241823939 G A rs201050656 WDR64 Nonsynonymous SNV D85N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.47 245861 chr11 65381011 65381011 G A rs375370224 MAP3K11 Nonsynonymous SNV R73W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 245862 chr1 246754992 246754992 T C rs767148252 CNST Nonsynonymous SNV L43P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 245863 chr2 242012776 242012776 G A rs187815821 SNED1 Nonsynonymous SNV G1305R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 245864 chr11 6578614 6578616 GAG - rs757508939 DNHD1 E2703del 0 0 0.003 0 0 0 0 1 0 0 0 0 245865 chr9 95947604 95947604 C T rs770567793 WNK2 Synonymous SNV A131A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.38 245866 chr2 197008375 197008375 G A rs774087340 STK17B Synonymous SNV L172L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 245867 chr3 10188245 10188245 G A VHL Nonsynonymous SNV V130I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 245868 chr11 6806338 6806338 C T OR2AG1 Nonsynonymous SNV P24S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 245869 chr7 110762930 110762930 G A rs34662250 LRRN3 Synonymous SNV T34T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.279 245870 chr11 72408168 72408168 C T ARAP1 Nonsynonymous SNV R703Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 245871 chr11 73067276 73067276 G A rs151080372 ARHGEF17 Synonymous SNV A1240A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.27 245872 chr5 178770897 178770897 G A rs749177926 ADAMTS2 Synonymous SNV A135A 0 0 0 2 0 0 0.005 0 0 0 0 0 10.89 245873 chr2 17902496 17902496 C A rs922891802 SMC6 Nonsynonymous SNV E253D 0 0.003 0 0 0 1 0 0 0 0 0 0 22 245874 chr7 127326782 127326782 C T rs144637656 SND1 Nonsynonymous SNV A65V 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 12.27 245875 chr5 180582864 180582864 C T rs770132012 OR2V2 Nonsynonymous SNV R308C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.44 245876 chrX 148797708 148797708 A T MAGEA11 Nonsynonymous SNV I159F 0.003 0 0 0 4 0 0 0 1 0 0 0 2.193 245877 chr2 219129307 219129307 C T rs144370433 AAMP Synonymous SNV T418T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.73 245878 chr2 21228386 21228386 G A rs143710616 APOB Nonsynonymous SNV T3785I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.425 245879 chr11 784150 784150 G A LOC171391 0 0 0.003 0 0 0 0 1 0 0 0 0 0.682 245880 chr3 38888354 38888354 C A rs143852849 SCN11A Nonsynonymous SNV G1736V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.6 245881 chr11 802698 802698 G A rs373164089 PIDD1 Synonymous SNV D301D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.121 245882 chr2 25497847 25497847 C T rs779859478 DNMT3A Nonsynonymous SNV R201H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 245883 chr11 85346753 85346753 T C rs375039927 TMEM126B Nonsynonymous SNV I101T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 245884 chr1 171300785 171300785 A G rs368598997 FMO4 Nonsynonymous SNV H164R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 245885 chr11 92085904 92085904 C T rs775736738 FAT3 Nonsynonymous SNV T209M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.4 245886 chr7 141885826 141885826 G T rs79577921 MGAM2 Nonsynonymous SNV R1342L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 245887 chr11 93212182 93212182 G A rs148900515 SMCO4 Synonymous SNV T58T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.12 245888 chr7 142574553 142574553 A G rs772682691 TRPV6 Synonymous SNV S215S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.098 245889 chr11 608377 608377 C T rs763758710 PHRF1 Nonsynonymous SNV P974L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 245890 chr2 33042543 33042543 A G rs139134493 TTC27 Synonymous SNV K726K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.094 245891 chr12 100928739 100928739 G A rs781187353 NR1H4 Nonsynonymous SNV V230M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.845 245892 chr2 233322997 233322997 C T rs371818442 ALPI Synonymous SNV D354D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.75 245893 chrX 53228263 53228263 C T rs782489275 KDM5C Synonymous SNV T646T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.19 245894 chr7 149558144 149558144 C T rs772810053 ZNF862 Nonsynonymous SNV T632I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.75 245895 chr3 48699417 48699417 G A rs765563781 CELSR3 Synonymous SNV G217G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.794 245896 chr3 48884841 48884841 C A rs139959307 PRKAR2A Synonymous SNV P63P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 245897 chr3 49050727 49050727 G A rs780573025 WDR6 Nonsynonymous SNV R561H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 245898 chrX 68725699 68725699 C T rs759273141 FAM155B Nonsynonymous SNV R192W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 245899 chr12 108642020 108642020 C T rs768544893 WSCD2 Nonsynonymous SNV A533V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 245900 chr2 236706449 236706449 A G rs148389075 AGAP1 Nonsynonymous SNV I240M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.1 245901 chr7 150935315 150935315 T C CHPF2 Nonsynonymous SNV F623L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 245902 chr7 151135053 151135053 C T rs376098544 CRYGN Nonsynonymous SNV S100N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.713 245903 chr2 238274527 238274527 G A rs200285455 COL6A3 Synonymous SNV T1277T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.768 245904 chr19 10473033 10473033 C T rs758682935 TYK2 Nonsynonymous SNV V526I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.403 245905 chr12 111884618 111884618 G A rs149554298 SH2B3 Nonsynonymous SNV R63Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 245906 chr3 52853802 52853802 G A ITIH4 Nonsynonymous SNV S640F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 245907 chr2 241069425 241069425 G C rs568399162 COPS9 Nonsynonymous SNV T95R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 245908 chr19 10893795 10893795 A G DNM2 Nonsynonymous SNV Q283R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 245909 chr3 55733455 55733455 C T rs776187868 ERC2 Nonsynonymous SNV R931Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 245910 chr19 11233958 11233958 C T LDLR Nonsynonymous SNV S582F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 21.8 245911 chr7 21789969 21789969 G A rs370466246 DNAH11 Nonsynonymous SNV R2976Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 245912 chr1 203008305 203008305 C T rs372663056 PPFIA4 Nonsynonymous SNV R57W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 27.9 245913 chr2 71838720 71838720 C T DYSF Synonymous SNV N1363N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 245914 chr12 124090521 124090521 C T DDX55 Nonsynonymous SNV A51V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 245915 chr6 108218901 108218901 T C rs1038779969 SEC63 Synonymous SNV V464V 0.003 0 0 6 3 0 0.015 0 0 0 0 0 10.1 245916 chr7 31815286 31815286 G C PDE1C Nonsynonymous SNV T651R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 245917 chr12 124838675 124838675 C T rs556087059 NCOR2 Synonymous SNV S1209S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 245918 chr3 108724082 108724082 C T rs375849576 MORC1 Synonymous SNV A616A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 245919 chr1 213186553 213186553 C G ANGEL2 Nonsynonymous SNV Q89H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.52 245920 chr3 111831918 111831918 T C rs764919591 C3orf52 Nonsynonymous SNV L192P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 245921 chr3 111842415 111842415 G A rs776407613 GCSAM Stop gain R127X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 245922 chr3 112292737 112292737 C T rs891299935 SLC35A5 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 245923 chr7 42006036 42006036 C T rs137939155 GLI3 Nonsynonymous SNV A879T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.4 245924 chr3 113002436 113002436 C T rs202234634 BOC Synonymous SNV V871V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.46 245925 chr12 132824547 132824547 C T GALNT9 Synonymous SNV V331V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 245926 chr12 133374989 133374989 C T rs772916609 GOLGA3 Synonymous SNV T625T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 245927 chr19 16918647 16918647 C A rs143908337 NWD1 Synonymous SNV S1123S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.04 245928 chr19 17160761 17160761 G A HAUS8 Synonymous SNV S384S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.664 245929 chr12 1963173 1963173 C T rs200973567 CACNA2D4 Synonymous SNV A730A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.66 245930 chr3 121414916 121414916 T C rs748180198 GOLGB1 Nonsynonymous SNV Q1405R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 245931 chr7 48337984 48337984 T A rs117649711 ABCA13 Nonsynonymous SNV M3074K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 245932 chr2 45807037 45807037 G A rs140293219 SRBD1 Nonsynonymous SNV S350L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 245933 chr12 29630355 29630355 T C rs750174733 OVCH1 Nonsynonymous SNV M424V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 245934 chr3 124732494 124732494 C T rs114671759 HEG1 Synonymous SNV P643P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 245935 chr3 127327809 127327809 C T rs142512970 MCM2 Synonymous SNV T457T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 245936 chr3 130104182 130104182 C T rs116281207 COL6A5 Synonymous SNV V612V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 245937 chr7 75203189 75203189 T A HIP1 Nonsynonymous SNV M208L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 245938 chr3 130289687 130289687 C T rs59562634 COL6A6 Synonymous SNV D809D 0.004 0.003 0.003 0 5 1 0 1 0 0 0 0 9.397 245939 chr12 27628527 27628527 C T rs115667978 SMCO2 Synonymous SNV G125G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.209 245940 chr3 132438618 132438618 C T rs78527322 NPHP3 Synonymous SNV A150A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 17.23 245941 chr12 29460843 29460843 T C rs531373123 LOC100506606 0 0.003 0 0 0 1 0 0 0 0 0 0 2.046 245942 chr12 29614807 29614807 C T rs12305672 OVCH1 Nonsynonymous SNV G789R 0.001 0.003 0.007 1 1 1 0.003 2 0 0 1 0 22.6 245943 chr3 133666152 133666152 A G rs34566804 SLCO2A1 Synonymous SNV L415L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.11 245944 chr11 9442169 9442169 G A IPO7 Nonsynonymous SNV S277N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 245945 chr3 135870108 135870108 C T MSL2 Nonsynonymous SNV A465T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 245946 chr7 83016309 83016309 T C rs574901886 SEMA3E Synonymous SNV Q515Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.056 245947 chr2 167760317 167760317 C T rs370739648 XIRP2 Nonsynonymous SNV R109C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 245948 chr3 140282881 140282881 G A rs776165800 CLSTN2 Nonsynonymous SNV R854Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 245949 chr6 167343143 167343143 C T RNASET2 Nonsynonymous SNV S235N 0 0 0 2 0 0 0.005 0 0 0 0 0 4.101 245950 chr3 150690278 150690278 T C rs201008540 CLRN1 Nonsynonymous SNV Q73R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.9 245951 chr12 53186050 53186050 G C rs374548119 KRT3 Synonymous SNV A387A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.833 245952 chr12 105583842 105583842 C T rs562507472 APPL2 Nonsynonymous SNV A451T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 245953 chr7 95224435 95224435 G A rs139435831 PDK4 Stop gain R58X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 245954 chr8 101154177 101154177 G A rs201306425 FBXO43 Nonsynonymous SNV T102I 0.003 0 0 0 4 0 0 0 0 0 0 0 8.118 245955 chr12 109637345 109637345 C T rs759904403 ACACB Synonymous SNV Y922Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.05 245956 chr12 55715267 55715267 - CAAG OR6C1 Frameshift insertion F299Sfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 245957 chr8 10557965 10557965 C T rs61742897 C8orf74 Nonsynonymous SNV A290V 0.003 0 0 0 3 0 0 0 0 0 0 0 1.163 245958 chr3 182853646 182853646 C T rs748418817 LAMP3 Nonsynonymous SNV V326M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 245959 chr2 187693259 187693259 A G rs112628592 ZSWIM2 Synonymous SNV L452L 0 0.005 0 0 0 2 0 0 0 0 0 0 0.057 245960 chr2 187693287 187693287 A G rs111235088 ZSWIM2 Synonymous SNV P442P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.082 245961 chr2 187693439 187693439 G T rs112218201 ZSWIM2 Nonsynonymous SNV P392T 0 0.005 0 0 0 2 0 0 0 0 0 0 25.8 245962 chr2 187697899 187697899 C T rs112119737 ZSWIM2 Nonsynonymous SNV D297N 0 0.005 0 0 0 2 0 0 0 0 0 0 4.15 245963 chr3 108072348 108072348 A G HHLA2 Nonsynonymous SNV I47V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 245964 chr12 6161797 6161797 C G rs377672051 VWF Nonsynonymous SNV D700H 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 6.726 245965 chr8 11637219 11637219 C T rs867942520 NEIL2 Nonsynonymous SNV A23V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.068 245966 chr2 196573550 196573550 G T SLC39A10 Nonsynonymous SNV K519N 0 0.005 0 0 0 2 0 0 0 0 0 0 28.8 245967 chr12 64195897 64195897 C T RXYLT1 Nonsynonymous SNV P152L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 245968 chr3 184106391 184106391 C T rs774274671 CHRD Synonymous SNV H857H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.67 245969 chr12 6619811 6619811 C G rs367995556 NCAPD2 Synonymous SNV S93S 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 12.64 245970 chr12 7287982 7287982 G A CLSTN3 Nonsynonymous SNV R148Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 245971 chr12 8904609 8904609 A G rs200372425 RIMKLB Nonsynonymous SNV M155V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.81 245972 chr4 619635 619635 C T rs144590560 PDE6B Nonsynonymous SNV R74C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 245973 chr10 82363453 82363453 C T rs531609900 SH2D4B Synonymous SNV S205S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.27 245974 chr4 1087502 1087502 A T rs772842409 RNF212 Nonsynonymous SNV C183S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 245975 chr10 90492297 90492297 C T rs201296908 LIPK Stop gain R220X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 245976 chr2 44099257 44099257 C G rs774622976 ABCG8 Nonsynonymous SNV D369E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 245977 chr2 220334065 220334065 C A SPEG Nonsynonymous SNV R1227S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 245978 chr4 1978339 1978339 G A rs757155869 NSD2 Synonymous SNV L1253L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 245979 chr12 14822738 14822738 G A rs199636407 GUCY2C Synonymous SNV H400H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.699 245980 chr12 6078534 6078534 C T rs562305031 VWF Synonymous SNV P2524P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 245981 chr19 45381597 45381597 - GAG rs536746729 NECTIN2 R391_K392insR 0.002 0 0 1 2 0 0.003 0 0 0 0 0 245982 chr12 14976058 14976058 G A rs781661482 C12orf60 Nonsynonymous SNV M63I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 245983 chr2 220367115 220367115 G T GMPPA Synonymous SNV T147T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 245984 chr13 103443626 103443626 A G rs370434640 POGLUT2 Nonsynonymous SNV V276A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.74 245985 chr3 129120467 129120467 T C rs200434405 EFCAB12 Nonsynonymous SNV Y563C 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 245986 chr4 5630349 5630349 C T rs145693546 EVC2 Nonsynonymous SNV R528H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 245987 chr3 130283950 130283950 C A COL6A6 Synonymous SNV A258A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.18 245988 chr12 7045895 7045906 CAGCAGCAGCAG - ATN1 Q499_Q502del 0 0.003 0 0 0 1 0 0 0 0 0 0 245989 chr13 112722657 112722657 - CGCACC SOX1 H234_H235insPH 0 0 0.003 0 0 0 0 1 0 0 0 0 245990 chr2 63631285 63631285 C G rs61734466 WDPCP Nonsynonymous SNV A286P 0.003 0 0 2 4 0 0.005 0 0 0 0 0 Benign/Likely benign 23.7 245991 chr13 114503876 114503916 CCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACA - TMEM255B C168Qfs*32 0 0.003 0.007 0 0 1 0 2 0 0 0 0 245992 chr13 114507956 114507956 G A rs56032548 TMEM255B Synonymous SNV T256T 0 0.003 0.01 0 0 1 0 3 0 0 0 0 8.664 245993 chr4 7677851 7677851 C T rs202126160 SORCS2 Synonymous SNV Y412Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 245994 chr12 31820743 31820743 - GAA rs746577989 ETFBKMT K205_C206insK 0.002 0 0 0 2 0 0 0 0 0 0 0 245995 chr13 25280464 25280464 G A rs151141940 ATP12A Nonsynonymous SNV A684T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 245996 chr13 25459755 25459755 C T rs924920547 CENPJ Nonsynonymous SNV D1119N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 245997 chr13 28141972 28141972 T C rs773230569 LNX2 Synonymous SNV T220T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 245998 chr2 84831571 84831571 T G rs927839646 DNAH6 Nonsynonymous SNV L993V 0.002 0 0 0 2 0 0 0 0 0 0 0 25 245999 chr6 84569563 84569563 G C rs150617374 CYB5R4 Nonsynonymous SNV G21A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 1.087 246000 chr13 39263543 39263543 C G rs150928081 FREM2 Nonsynonymous SNV R688G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.4 246001 chr2 85889191 85889191 G A SFTPB Synonymous SNV T348T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.862 246002 chr12 46285824 46285824 G T ARID2 Nonsynonymous SNV A1698S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 246003 chr2 85981336 85981336 G A ATOH8 Synonymous SNV E8E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 246004 chr12 4645292 4645292 A C rs770600328 C12orf4 Nonsynonymous SNV S23R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.543 246005 chr3 151545936 151545936 T A rs751903143 AADAC Synonymous SNV I392I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 246006 chr19 51296993 51296993 C A ACP4 Nonsynonymous SNV T233N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 246007 chr2 97217586 97217586 C T ARID5A Synonymous SNV L277L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.761 246008 chr2 97544228 97544228 G C rs771036414 FAM178B Synonymous SNV A52A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.53 246009 chr7 100028872 100028872 C T rs972534929 MEPCE Nonsynonymous SNV R411C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 246010 chr19 52115551 52115551 G A rs202156967 SIGLEC5 Nonsynonymous SNV S530L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.593 246011 chr4 56304458 56304458 T C rs373162158 CLOCK Synonymous SNV Q784Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 246012 chr8 31497691 31497691 C T rs367543155 NRG1 Nonsynonymous SNV S64L 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 25.1 246013 chr13 99364788 99364788 C T rs746825904 SLC15A1 Synonymous SNV R258R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 246014 chr3 9426235 9426235 C T rs149283084 THUMPD3 Stop gain R463X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 246015 chr14 101489703 101489703 T C rs111906529 MIR411 0 0 0.007 0 0 0 0 2 0 0 0 0 14.6 246016 chr14 101526926 101526926 G A rs768441795 MIR496 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 246017 chr2 112847276 112847276 G C rs115636351 TMEM87B Nonsynonymous SNV G338A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 246018 chr14 103400084 103400084 G A CDC42BPB Nonsynonymous SNV L1701F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 246019 chr8 54669218 54669218 T C ATP6V1H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 246020 chr8 57079728 57079728 G A rs776318131 PLAG1 Nonsynonymous SNV R111W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 246021 chr8 59059274 59059274 C G rs372946396 FAM110B Nonsynonymous SNV S162C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 246022 chr14 104174906 104174906 A G XRCC3 Nonsynonymous SNV L49S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 246023 chr3 184070882 184070882 G A rs148009209 CLCN2 Synonymous SNV P650P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.28 246024 chr8 6588274 6588274 C T rs138829950 AGPAT5 Nonsynonymous SNV A111V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 246025 chr3 185393192 185393192 C T rs200326325 IGF2BP2 Synonymous SNV P185P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.74 246026 chr14 105995622 105995622 T C TMEM121 Nonsynonymous SNV F151L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 246027 chr19 54659529 54659529 C T rs147840420 LENG1 Nonsynonymous SNV R242Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 246028 chr14 20471160 20471160 A G rs974404838 OR4Q2 Nonsynonymous SNV M280V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.494 246029 chr19 55449589 55449589 G A rs763189688 NLRP7 Nonsynonymous SNV P651L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.577 246030 chr12 56559114 56559114 G C rs144685761 SMARCC2 Nonsynonymous SNV P1043A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 246031 chr3 32180099 32180099 C T rs377378878 GPD1L Synonymous SNV S82S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 13.21 246032 chr3 33155654 33155654 G C rs766784647 CRTAP Nonsynonymous SNV E29Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 246033 chr14 21109741 21109741 T C rs773947445 OR6S1 Nonsynonymous SNV Y37C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 246034 chr3 33602307 33602307 C A CLASP2 Nonsynonymous SNV V763F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 246035 chr14 21560441 21560441 C T ZNF219 Nonsynonymous SNV G339R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 246036 chr14 22038184 22038184 G A OR10G3 Nonsynonymous SNV T231I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 246037 chr2 152507106 152507106 A T rs778083630 NEB Synonymous SNV V2403V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.067 246038 chr3 39104615 39104615 A G rs756516149 WDR48 Synonymous SNV A41A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.652 246039 chr2 160050911 160050911 C T rs200783758 TANC1 Synonymous SNV D761D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 246040 chr7 123302836 123302836 C T LMOD2 Nonsynonymous SNV S399L 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 246041 chr3 39226743 39226743 G T rs745514449 XIRP1 Nonsynonymous SNV S81R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 246042 chr4 106890143 106890143 G A rs140913892 NPNT Nonsynonymous SNV R536H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 246043 chr3 40231828 40231828 G A rs139075612 MYRIP Synonymous SNV P326P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.931 246044 chr14 24029196 24029196 C T rs201878577 AP1G2 Nonsynonymous SNV R355Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.85 246045 chr4 113511003 113511003 T C rs375347159 ZGRF1 Nonsynonymous SNV T944A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 246046 chr14 31081427 31081427 A G rs766587754 G2E3 Synonymous SNV T459T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.524 246047 chr14 31570162 31570162 T C rs888537319 HECTD1 Nonsynonymous SNV M2603V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 246048 chr3 39433349 39433349 G A rs369980078 SLC25A38 Synonymous SNV G154G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.01 246049 chr3 45134814 45134814 C A rs199965821 CDCP1 Nonsynonymous SNV A528S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.485 246050 chr13 99537991 99537991 G C rs368366341 DOCK9 Nonsynonymous SNV T745R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.8 246051 chr4 122739985 122739985 T C rs149686084 CCNA2 Synonymous SNV L362L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.22 246052 chr3 42906509 42906509 C G rs150050911 ACKR2 Nonsynonymous SNV S172C 0 0 0.003 4 0 0 0.01 1 0 0 0 0 22.9 246053 chr4 126408706 126408706 T C rs146822665 FAT4 Synonymous SNV L4343L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.258 246054 chr4 128842718 128842718 G C rs145453022 MFSD8 Synonymous SNV S332S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 4.76 246055 chr4 128910908 128910908 T A ABHD18 Nonsynonymous SNV D70E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.261 246056 chr9 123583689 123583689 G A rs138098653 PSMD5 Nonsynonymous SNV P311S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.75 246057 chr3 48488370 48488370 G A ATRIP Nonsynonymous SNV A41T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.936 246058 chr12 85266484 85266484 G A rs12424429 SLC6A15 Nonsynonymous SNV A293V 0.005 0 0 0 6 0 0 0 0 0 0 0 8.609 246059 chr4 141555178 141555178 C T rs777183989 TBC1D9 Synonymous SNV L890L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.687 246060 chr7 142836267 142836267 G C rs200674410 PIP Nonsynonymous SNV D101H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 246061 chr3 50332800 50332800 G A rs137931173 HYAL3 Synonymous SNV L78L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.077 246062 chr3 52255596 52255596 G A rs139077606 TLR9 Synonymous SNV D912D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 246063 chr12 96275272 96275272 G A rs777956188 CCDC38 Synonymous SNV D327D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.083 246064 chr3 52817257 52817257 G A rs201221624 ITIH1 Nonsynonymous SNV R88Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 246065 chr4 159636737 159636737 C A PPID Nonsynonymous SNV D208Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246066 chr3 50340120 50340120 C T rs782416015 HYAL1 Nonsynonymous SNV E90K 0 0 0 1 0 0 0.003 0 0 0 0 0 22 246067 chr9 131117409 131117409 G A SLC27A4 Nonsynonymous SNV A468T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 246068 chr14 73029709 73029709 C T RGS6 Nonsynonymous SNV P649S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.529 246069 chr7 154519527 154519527 G A rs61736427 DPP6 Synonymous SNV Q164Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.505 246070 chr4 177046455 177046455 G C rs114620724 WDR17 Nonsynonymous SNV V247L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 246071 chr14 75553930 75553930 G T rs774587035 NEK9 Nonsynonymous SNV P882T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 246072 chr9 133329719 133329719 G A rs766880501 ASS1 Nonsynonymous SNV E45K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 246073 chr14 77493111 77493111 C T IRF2BPL Nonsynonymous SNV R342H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 246074 chr2 207175154 207175154 C A ZDBF2 Nonsynonymous SNV P1968T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 246075 chr11 45249140 45249140 G A rs757728348 PRDM11 Synonymous SNV V988V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 246076 chr2 209025602 209025602 A T CRYGA Nonsynonymous SNV Y151N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 246077 chr5 143292 143292 A C PLEKHG4B Synonymous SNV G536G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 246078 chr2 210517974 210517974 A G MAP2 Nonsynonymous SNV H27R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 246079 chr14 94471312 94471312 A T rs549153032 CCDC197 Nonsynonymous SNV I204F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.881 246080 chr11 47819336 47819336 C T rs150547235 NUP160 Nonsynonymous SNV R1095H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 246081 chr9 136672410 136672410 C T rs370308907 VAV2 Synonymous SNV A230A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 246082 chr5 5182252 5182252 G A rs370658225 ADAMTS16 Synonymous SNV S199S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.177 246083 chr5 5460774 5460774 G A rs142060357 ICE1 Nonsynonymous SNV E443K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.017 246084 chr3 9950964 9950964 G A IL17RE Nonsynonymous SNV A151T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 246085 chr5 7883315 7883315 G A rs115289458 MTRR Synonymous SNV V276V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.54 246086 chr7 44150512 44150512 A G rs746234188 AEBP1 Nonsynonymous SNV T496A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.1 246087 chr9 140437937 140437937 G A rs139510260 PNPLA7 Synonymous SNV D126D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 246088 chr15 31234179 31234179 A G rs377638176 MTMR10 Synonymous SNV L610L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.317 246089 chr15 34354951 34354951 C T rs75917306 CHRM5 Synonymous SNV T11T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.294 246090 chr13 76427479 76427479 G A rs372218694 LMO7 Nonsynonymous SNV S1212N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 246091 chr3 126194112 126194112 G A rs765929540 ZXDC Synonymous SNV H199H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.115 246092 chr13 77817986 77817986 T G rs1028629841 MYCBP2 Nonsynonymous SNV I828L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 246093 chr3 126445975 126445975 C T rs139974706 CHCHD6 Nonsynonymous SNV P48S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 0.017 246094 chr15 41804153 41804153 C T rs771688820 LTK Synonymous SNV P173P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 246095 chr15 41857252 41857252 C G TYRO3 Synonymous SNV T187T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 246096 chr1 116666937 116666937 G A rs774084784 MAB21L3 Nonsynonymous SNV R147Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.38 246097 chr15 42167249 42167249 T C rs62002142 SPTBN5 Synonymous SNV A1431A 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 0.025 246098 chr4 140811064 140811075 TGCTGCTGCTGC - rs774201781 MAML3 Q507_Q510del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 246099 chr4 140811070 140811075 TGCTGC - MAML3 Q509_Q510del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 246100 chr15 43621969 43621969 G A rs200675491 LCMT2 Nonsynonymous SNV S240F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 246101 chr15 45007814 45007814 C T B2M Synonymous SNV Y87Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.355 246102 chr5 71016370 71016370 G A rs34640770 CARTPT Synonymous SNV G93G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.576 246103 chr3 134322916 134322916 G A rs142832129 KY Synonymous SNV H481H 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Benign 1.541 246104 chr2 242402791 242402791 G A rs780095491 FARP2 Synonymous SNV A573A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.405 246105 chr1 144923763 144923763 G A rs146514590 PDE4DIP Nonsynonymous SNV T395I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 246106 chr9 738504 738504 G A rs775551364 KANK1 Nonsynonymous SNV D929N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 246107 chr9 75543928 75543928 A T rs201385375 ALDH1A1 Nonsynonymous SNV S108T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.762 246108 chr5 79027890 79027890 C T rs200355561 CMYA5 Nonsynonymous SNV T1101I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 246109 chr14 20711681 20711681 G A rs114526370 OR11H4 Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.857 246110 chr15 63881298 63881298 T C rs145019700 USP3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.153 246111 chr15 63966848 63966848 G A rs369950378 HERC1 Synonymous SNV L2513L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.081 246112 chr9 80144079 80144079 G A rs45466295 GNA14 Nonsynonymous SNV T72M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 246113 chr1 152324402 152324402 C T rs761649223 FLG2 Nonsynonymous SNV G1954S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.801 246114 chr1 152324408 152324408 C T FLG2 Nonsynonymous SNV G1952R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 246115 chr7 91708878 91708878 A G rs1026846410 AKAP9 Synonymous SNV L2477L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.065 246116 chr9 95064044 95064044 T G rs34224798 NOL8 Nonsynonymous SNV E950D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.23 246117 chr9 95796906 95796906 G T rs116496123 FGD3 Synonymous SNV V574V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 3.205 246118 chr15 72119371 72119371 G C MYO9A Synonymous SNV A2399A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 246119 chr4 186357255 186357255 G A rs61745989 C4orf47 Nonsynonymous SNV R25H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 246120 chr1 154407520 154407520 G A rs112354168 IL6R Nonsynonymous SNV R232H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 246121 chr15 74467764 74467764 G A rs370000092 ISLR Nonsynonymous SNV V189M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 246122 chr7 99711541 99711541 T G rs1003879299 TAF6 Nonsynonymous SNV K102Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.4 246123 chr1 155172646 155172646 G A THBS3 Nonsynonymous SNV P185L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 246124 chrX 106038863 106038863 A G rs754709329 RNF128 Nonsynonymous SNV I377V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.005 246125 chrX 107315932 107315932 C T rs144418706 VSIG1 Synonymous SNV S146S 0.002 0 0 0 2 0 0 0 1 0 0 0 16.49 246126 chr5 112439980 112439980 T C rs775766490 MCC Nonsynonymous SNV K177R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 246127 chr8 104388013 104388013 C T rs187299788 CTHRC1 Synonymous SNV D52D 0 0 0 2 0 0 0.005 0 0 0 0 0 15 246128 chrX 118809538 118809538 A T SEPTIN6 Nonsynonymous SNV C42S 0.002 0 0 0 2 0 0 0 1 0 0 0 6.939 246129 chr8 110460383 110460383 A G PKHD1L1 Nonsynonymous SNV T1930A 0 0 0 2 0 0 0.005 0 0 0 0 0 21.9 246130 chr8 110510972 110510972 T C rs183119483 PKHD1L1 Synonymous SNV N3600N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.026 246131 chr4 2940447 2940447 C T NOP14-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.877 246132 chr5 128368918 128368918 T C rs202193188 SLC27A6 Synonymous SNV Y601Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 246133 chr15 84324578 84324578 C G rs143133425 ADAMTSL3 Nonsynonymous SNV P22R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.216 246134 chr5 132096636 132096636 G A rs371228279 SEPTIN8 Nonsynonymous SNV R382C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246135 chr5 137593536 137593536 G A rs899942048 GFRA3 Nonsynonymous SNV R193C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 246136 chr15 89015608 89015608 G A rs11855217 MRPS11 Nonsynonymous SNV M107I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.836 246137 chr4 2238026 2238026 G A rs200225570 HAUS3 Nonsynonymous SNV R503W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 246138 chr5 140230425 140230425 C G PCDHA9 Nonsynonymous SNV S782C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 246139 chr3 47770560 47770560 T C rs780071497 SMARCC1 Nonsynonymous SNV K201E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.06 246140 chr3 48699584 48699584 C T CELSR3 Nonsynonymous SNV V162I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.013 246141 chr5 140810935 140810935 A G PCDHGA12 Synonymous SNV E203E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 246142 chr1 167042733 167042733 G A rs199696976 GPA33 Synonymous SNV D29D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.042 246143 chr15 98301740 98301740 A G rs12437740 LINC00923 0 0 0.017 0 0 0 0 5 0 0 0 0 4.862 246144 chr15 99798398 99798398 G T HSP90B2P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.024 246145 chr14 65543379 65543379 G A rs762084527 MAX Nonsynonymous SNV R91C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 246146 chr3 52524223 52524223 C T rs778657358 NISCH Nonsynonymous SNV R1197C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 246147 chr3 52727017 52727017 G A rs774912410 GNL3 Synonymous SNV P333P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.02 246148 chr16 11836353 11836353 G A rs186538335 TXNDC11 Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.88 246149 chrX 99934398 99934398 C T rs140740598 SYTL4 Nonsynonymous SNV E524K 0.003 0 0 0 3 0 0 0 1 0 0 0 22.5 246150 chr4 73149395 73149395 T C ADAMTS3 Nonsynonymous SNV I1026V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.1 246151 chr4 76890546 76890546 G A rs199503756 SDAD1 Nonsynonymous SNV A260V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 246152 chr10 102766630 102766630 G A rs867826330 LZTS2 Nonsynonymous SNV R352Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 246153 chr16 16248588 16248588 C T rs60285147 ABCC6 Nonsynonymous SNV E1369K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.4 246154 chr10 104416556 104416556 C T rs41300235 TRIM8 Synonymous SNV C335C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.855 246155 chr3 66455686 66455686 C T rs767551795 LRIG1 Nonsynonymous SNV E366K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 246156 chr5 168093556 168093556 C T rs148264566 SLIT3 Nonsynonymous SNV S1499N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 246157 chr10 105372688 105372688 C T rs771136503 SH3PXD2A Nonsynonymous SNV V275I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.094 246158 chr5 168135089 168135089 G A rs139041731 SLIT3 Synonymous SNV N919N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.65 246159 chr10 106207468 106207468 C A CFAP58 Nonsynonymous SNV L757I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 246160 chr3 97888349 97888349 G A rs140624782 OR5H15 Nonsynonymous SNV G269D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 246161 chr16 21328374 21328374 C T rs140207112 CRYM-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 246162 chr4 47514686 47514686 C T rs140350894 ATP10D Synonymous SNV T43T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.439 246163 chr14 92601773 92601773 T C CPSF2 Nonsynonymous SNV W7R 0.001 0 0 0 1 0 0 0 0 0 0 0 28 246164 chr8 17407842 17407842 A T rs374729310 SLC7A2 Nonsynonymous SNV Y244F 0 0 0 2 0 0 0.005 0 0 0 0 0 14.79 246165 chr4 47938465 47938465 C T rs73145999 CNGA1 Synonymous SNV A751A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 3.059 246166 chr5 176931828 176931828 G A rs367830993 DOK3 Synonymous SNV D85D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.089 246167 chr10 116056775 116056775 C T rs201700224 AFAP1L2 Nonsynonymous SNV V715M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 246168 chr4 88583448 88583448 G A rs747698893 DMP1 Nonsynonymous SNV R157Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.84 246169 chr16 27459633 27459633 G A rs3093383 IL21R-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 6.04 246170 chr16 2816555 2816555 G A rs202103463 SRRM2 Nonsynonymous SNV R2009Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 246171 chr10 11912170 11912170 C G PROSER2 Nonsynonymous SNV S358C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 246172 chr8 22476364 22476364 C T CCAR2 Nonsynonymous SNV P785L 0 0 0 2 0 0 0.005 0 0 0 0 0 21 246173 chr1 197094265 197094265 G A rs971453990 ASPM Nonsynonymous SNV P998L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 246174 chr4 99064212 99064212 G A rs138596856 STPG2 Synonymous SNV F30F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.694 246175 chr16 3086672 3086672 C T rs549188938 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 1.525 246176 chr15 83440921 83440921 G A rs758413724 FSD2 Stop gain R391X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 246177 chr6 7231723 7231723 G A rs577897131 RREB1 Nonsynonymous SNV A1131T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.785 246178 chr6 12122470 12122470 C T HIVEP1 Synonymous SNV F814F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.087 246179 chr6 16327886 16327909 TGCTGCTGCTGCTGCTGCTGCTGA - rs776143577 ATXN1 H211_Q218del 0.001 0 0 0 1 0 0 0 0 0 0 0 246180 chr6 20152916 20152916 C T rs376945347 MBOAT1 Nonsynonymous SNV D62N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.683 246181 chr16 50354590 50354590 T G rs772477059 BRD7 Nonsynonymous SNV E533D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.29 246182 chr4 100207977 100207977 C T rs934955691 LOC100507053 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 246183 chr15 42003121 42003121 G A MGA Synonymous SNV L886L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.393 246184 chr16 57760785 57760785 C T rs757937565 DRC7 Synonymous SNV Y607Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 246185 chr11 99931948 99931948 G C rs182344400 CNTN5 Nonsynonymous SNV V255L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 246186 chr6 28056970 28056970 C T rs145435110 ZNF165 Nonsynonymous SNV H394Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 246187 chr3 130452817 130452817 C T rs56295394 PIK3R4 Nonsynonymous SNV R342H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 246188 chr1 214832258 214832258 C T rs545308395 CENPF Nonsynonymous SNV R3010W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 246189 chr3 135871357 135871357 T C rs141804917 MSL2 Synonymous SNV A48A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 246190 chr4 113352391 113352391 G A rs771652027 ALPK1 Nonsynonymous SNV S485N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.188 246191 chr16 67223042 67223042 G A rs139069832 EXOC3L1 Nonsynonymous SNV R30W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 246192 chr6 35278314 35278314 G C rs202091466 DEF6 Nonsynonymous SNV D106H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 246193 chr16 67576036 67576036 C T rs183208454 RIPOR1 Synonymous SNV S453S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 246194 chr5 140746230 140746230 C T PCDHGA5 Nonsynonymous SNV T778M 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 246195 chr5 140755849 140755849 G C rs755455760 PCDHGA6 Synonymous SNV A733A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.136 246196 chr6 37427448 37427448 G T CMTR1 Synonymous SNV L361L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 246197 chr16 15865442 15865442 G A rs112161189 MYH11 Synonymous SNV S339S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.048 246198 chr10 35322199 35322199 C T rs61749171 CUL2 Nonsynonymous SNV M272I 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 246199 chr6 39883876 39883876 A C rs61732596 MOCS1 Nonsynonymous SNV S86R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 246200 chr5 146080626 146080626 T C rs140556908 PPP2R2B Nonsynonymous SNV I53M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 246201 chr6 42073204 42073204 A G C6orf132 Nonsynonymous SNV S816P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.183 246202 chr16 19729679 19729679 C G rs151262188 IQCK Nonsynonymous SNV S17R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.34 246203 chr5 147774426 147774426 T C rs77480566 FBXO38 Synonymous SNV Y29Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 0.888 246204 chr16 73126750 73126750 G A rs72795164 HCCAT5 0 0 0.01 0 0 0 0 3 0 0 0 0 13.36 246205 chr5 149240489 149240493 GCACC - PDE6A G850Nfs*50 0 0 0 1 0 0 0.003 0 0 0 0 0 246206 chr5 149677211 149677211 G A rs765592344 ARSI Synonymous SNV L426L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.459 246207 chr5 150072525 150072525 C T RBM22 Nonsynonymous SNV S355N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 246208 chr6 46659187 46659187 C G rs149251330 TDRD6 Nonsynonymous SNV P1108A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.3 246209 chr4 154544067 154544067 C T rs762414851 TMEM131L Nonsynonymous SNV P1293S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.436 246210 chr16 81222503 81222503 C T rs374247954 PKD1L2 Nonsynonymous SNV R591H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 246211 chr10 50819408 50819408 C G SLC18A3 Nonsynonymous SNV P208A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.494 246212 chr1 228596103 228596103 C T rs61756354 TRIM17 Synonymous SNV L411L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.468 246213 chr1 229730113 229730113 C T TAF5L Synonymous SNV L567L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 246214 chr16 84135355 84135355 C T rs773118504 MBTPS1 Nonsynonymous SNV V12M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 246215 chr16 84203774 84203774 C T rs755275918 DNAAF1 Nonsynonymous SNV P211L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.897 246216 chr6 64574095 64574095 T G EYS Synonymous SNV G2404G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.649 246217 chr5 167617527 167617527 C T rs778362854 TENM2 Nonsynonymous SNV P687S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 246218 chr5 167674967 167674967 G A rs190566254 TENM2 Synonymous SNV S2102S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.843 246219 chr4 183601422 183601422 G A rs373226740 TENM3 Nonsynonymous SNV R520Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 246220 chr6 70894769 70894769 A G rs773167315 COL19A1 Nonsynonymous SNV M940V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 246221 chr4 186294135 186294135 A G rs753357070 LRP2BP Synonymous SNV D226D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 246222 chr6 71004106 71004106 C G rs138583508 COL9A1 Nonsynonymous SNV V154L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.9 246223 chr1 240656528 240656528 C T rs750533945 GREM2 Nonsynonymous SNV S83N 0.001 0 0 0 1 0 0 0 0 0 0 0 18 246224 chr16 88931465 88931465 C T rs368444129 PABPN1L Synonymous SNV T177T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 246225 chr10 75849905 75849905 C A rs757541730 VCL Nonsynonymous SNV S434Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 246226 chr5 177637566 177637566 C T rs370560169 HNRNPAB Nonsynonymous SNV T267I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 246227 chr16 90066936 90066936 A C rs4785763 AFG3L1P 0 0 0.007 0 0 0 0 2 0 0 1 0 3.465 246228 chr17 10535272 10535272 G A rs781405511 MYH3 Nonsynonymous SNV A1673V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 246229 chr6 100841682 100841682 C T SIM1 Synonymous SNV P417P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 246230 chr4 1818563 1818563 A G rs532051187 LETM1 Synonymous SNV L608L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.8 246231 chr4 2749423 2749423 G T TNIP2 Nonsynonymous SNV Q69K 0.003 0 0 0 3 0 0 0 0 0 0 0 12.12 246232 chr17 17696872 17696872 C T rs138332224 RAI1 Nonsynonymous SNV P204S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.228 246233 chr17 18024536 18024536 C T rs763276546 MYO15A Nonsynonymous SNV P808S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 246234 chr10 98715097 98715097 T A rs748283363 LCOR Nonsynonymous SNV D240E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 246235 chr15 98509195 98509195 C T ARRDC4 Nonsynonymous SNV P149S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 246236 chr1 31230541 31230541 G A rs373172801 LAPTM5 Nonsynonymous SNV R18C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.1 246237 chr5 53814277 53814277 G C rs189018783 SNX18 Synonymous SNV A165A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Benign 0.092 246238 chr5 68660800 68660800 A G rs548057941 TAF9 Synonymous SNV D255D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 246239 chr1 33363729 33363729 C T rs751814809 TMEM54 Nonsynonymous SNV V70M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 246240 chr5 70858179 70858179 C T rs535538241 BDP1 Synonymous SNV V2525V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.904 246241 chr5 55086470 55086470 A T rs757557560 DDX4 Synonymous SNV V264V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.938 246242 chr17 27308783 27308783 C T SEZ6 Synonymous SNV L110L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 246243 chr17 27419968 27419968 G A rs754320950 MYO18A Nonsynonymous SNV R1623C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 246244 chr9 139699012 139699012 G A rs114617448 CCDC183 Nonsynonymous SNV R242Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 22.9 246245 chr5 60839615 60839615 G A rs192222164 ZSWIM6 Nonsynonymous SNV R1040H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 246246 chr4 36189124 36189124 A G rs754567256 ARAP2 Nonsynonymous SNV F543L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 246247 chr9 139943480 139943480 G T rs907248514 ENTPD2 Stop gain C399X 0 0 0 2 0 0 0.005 0 0 0 0 0 37 246248 chr9 140318119 140318119 C G rs563809302 NOXA1 Nonsynonymous SNV C46W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 246249 chr17 36093702 36093702 G A rs148713761 HNF1B Synonymous SNV S219S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 13.46 246250 chr11 108143316 108143316 C T rs773577455 ATM Synonymous SNV C1045C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.57 246251 chr4 54218858 54218858 T - rs777006424 SCFD2 N305Mfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 246252 chr17 36830237 36830237 G A rs568178963 EPOP Nonsynonymous SNV A171V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 246253 chr9 19286795 19286795 A G DENND4C Nonsynonymous SNV I112V 0 0 0 2 0 0 0.005 0 0 0 0 0 16.56 246254 chr11 113264333 113264333 C T rs776693749 ANKK1 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.846 246255 chr1 45296598 45296598 C G rs138577588 PTCH2 Nonsynonymous SNV Q245H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 18.01 246256 chr17 37331757 37331757 G A rs368695609 CACNB1 Nonsynonymous SNV R496C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 246257 chr16 2814800 2814802 CTC - rs749745739 SRRM2 P1425del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 246258 chr4 71347407 71347407 A G rs147182531 MUC7 Nonsynonymous SNV T316A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 246259 chr5 79031622 79031622 G A rs776699129 CMYA5 Nonsynonymous SNV R2345K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.214 246260 chr1 47157642 47157642 G A rs749210467 EFCAB14-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 6.566 246261 chr4 77228057 77228057 G A rs766688719 STBD1 Synonymous SNV G45G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.742 246262 chr11 118067537 118067537 C G rs141143931 JAML 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 246263 chr4 79531231 79531231 G A rs745511445 ANXA3 Nonsynonymous SNV E312K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.215 246264 chr9 4666216 4666216 C G SPATA6L Nonsynonymous SNV R12P 0 0 0 2 0 0 0.005 0 0 0 0 0 34 246265 chr9 5968690 5968690 C A KIAA2026 Nonsynonymous SNV C514F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 10.03 246266 chr11 12264259 12264259 G A rs779356456 MICAL2 Synonymous SNV K866K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 246267 chr7 2582933 2582933 G A rs758287252 BRAT1 Synonymous SNV D101D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.247 246268 chr5 98237017 98237017 A C CHD1 Nonsynonymous SNV S154A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.63 246269 chr17 40263478 40263478 C T rs143989971 DHX58 Nonsynonymous SNV R69H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 246270 chr6 107419792 107419792 G A BEND3 Nonsynonymous SNV S68F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.843 246271 chr6 10796514 10796514 C T MAK Nonsynonymous SNV G287D 0 0 0 1 0 0 0.003 0 0 0 0 0 33 246272 chr12 7069837 7069837 C A rs61753203 PTPN6 Nonsynonymous SNV S562Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.82 246273 chr4 115544139 115544139 A G rs759228056 UGT8 Nonsynonymous SNV M35V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.65 246274 chr4 123156084 123156084 A G rs201064789 KIAA1109 Synonymous SNV S1160S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.245 246275 chr7 26400657 26400657 C A rs968119159 SNX10 Stop gain Y26X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 246276 chr17 47230219 47230219 C A B4GALNT2 Stop gain Y137X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 246277 chr4 140058826 140058826 A G rs773788755 ELF2 Synonymous SNV G10G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.724 246278 chr17 48945507 48945508 TT - rs767085470 TOB1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 246279 chr17 55182923 55182923 T G rs147774257 AKAP1 Nonsynonymous SNV V33G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.72 246280 chrX 14930382 14930382 C T rs141915581 MOSPD2 Synonymous SNV T234T 0.003 0 0 3 4 0 0.008 0 1 0 0 1 Benign 15.82 246281 chr11 197576 197576 C T rs140013613 ODF3 Nonsynonymous SNV T42M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.8 246282 chr17 31260246 31260246 A G TMEM98 Synonymous SNV L62L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.466 246283 chr17 65736812 65736812 C T rs150579812 SNORA38B 0 0 0.003 0 0 0 0 1 0 0 0 0 8.671 246284 chr5 154135474 154135474 G T rs554446857 LARP1 Nonsynonymous SNV A53S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 246285 chr7 56155414 56155414 C T rs139265299 PHKG1 Nonsynonymous SNV A47T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 246286 chr4 186392717 186392717 G A LOC105377590 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 246287 chr13 113979931 113979931 C T rs757027100 GRTP1 Synonymous SNV P322P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.262 246288 chr11 3069170 3069170 G A rs374105235 CARS1 Synonymous SNV N29N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 246289 chr4 187630099 187630099 C T rs61733573 FAT1 Nonsynonymous SNV V295M 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 Likely benign 27.2 246290 chr11 34654157 34654157 - G rs144745038 EHF Frameshift insertion L9Ifs*9 0.001 0 0.003 0 1 0 0 1 0 0 0 0 246291 chr17 72301522 72301522 C T rs762652711 DNAI2 Synonymous SNV G384G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 246292 chrX 9863702 9863702 C T rs1030281994 SHROOM2 Nonsynonymous SNV P585L 0 0 0 3 0 0 0.008 0 0 0 0 1 28.5 246293 chr16 87868062 87868062 C A rs146583737 SLC7A5 Nonsynonymous SNV V476F 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.5 246294 chr17 38928088 38928088 C T rs185320223 KRT26 Nonsynonymous SNV R93H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 246295 chr17 73268373 73268373 G A rs72844596 LOC100287042 0 0 0.01 0 0 0 0 3 0 0 0 0 4.35 246296 chr10 103919738 103919738 G A rs143372447 NOLC1 Synonymous SNV K325K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.26 246297 chr7 97846728 97846728 C G rs747239497 TECPR1 Nonsynonymous SNV E1158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.479 246298 chr7 98460866 98460866 A G rs149260412 TMEM130 Synonymous SNV L81L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.398 246299 chr7 98507915 98507915 G A rs141794174 TRRAP Synonymous SNV K529K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 246300 chr7 98528420 98528420 A G rs113886181 TRRAP Synonymous SNV A1186A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.886 246301 chr7 98579511 98579511 C T rs140091431 TRRAP Synonymous SNV A2893A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 246302 chr7 98602856 98602856 C T rs779726223 TRRAP Synonymous SNV N3503N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 246303 chr7 98633092 98633092 C T rs138419887 LOC101927550 0.001 0 0 0 1 0 0 0 0 0 0 0 5.644 246304 chr7 98647290 98647290 C T rs146588100 SMURF1 Synonymous SNV P283P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 246305 chr17 74857717 74857717 G A rs185954844 LINC00868 0 0 0.007 0 0 0 0 2 0 0 0 0 3.115 246306 chr11 47869403 47869403 T C rs775486344 NUP160 Nonsynonymous SNV H104R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 246307 chr11 48142710 48142710 T C rs369765709 PTPRJ Nonsynonymous SNV W170R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 246308 chr10 106074331 106074331 G A rs147963751 ITPRIP Synonymous SNV A493A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.386 246309 chr10 11805302 11805302 T C rs775137140 ECHDC3 Nonsynonymous SNV V224A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 246310 chr6 32630011 32630011 T A rs765335255 HLA-DQB1 Nonsynonymous SNV T132S 0 0 0 2 0 0 0.005 0 0 0 0 1 14.47 246311 chr17 17077320 17077320 G A rs11551186 MPRIP Synonymous SNV A840A 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Benign 14.87 246312 chr17 17184450 17184450 A G rs138748869 COPS3 Synonymous SNV A17A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.333 246313 chr17 79496142 79496142 C T rs782453610 FSCN2 Synonymous SNV R195R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.043 246314 chr6 35705819 35705819 G A rs546106623 ARMC12 Nonsynonymous SNV R60Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 246315 chr14 102449567 102449567 A G rs17540735 DYNC1H1 Synonymous SNV Q391Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.908 246316 chr17 19437304 19437304 C T SLC47A1 Nonsynonymous SNV L18F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.755 246317 chr6 36104466 36104466 G A rs149860912 MAPK13 Nonsynonymous SNV A177T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 246318 chr17 80274216 80274216 G A rs149252844 CD7 Nonsynonymous SNV P156L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 246319 chr6 34004339 34004339 G A GRM4 Synonymous SNV P400P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.386 246320 chr6 39290152 39290152 C T rs138076469 KCNK16 Synonymous SNV L55L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 246321 chr5 78340141 78340141 T C rs146185647 DMGDH Nonsynonymous SNV N327S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.171 246322 chr6 35987424 35987424 A G rs184824016 SLC26A8 Nonsynonymous SNV F21L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 246323 chr6 41900170 41900170 A T rs371519197 BYSL Nonsynonymous SNV D347V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 246324 chr7 103194107 103194107 G C RELN Nonsynonymous SNV P1990R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 246325 chr6 39282961 39282961 G A KCNK16 Nonsynonymous SNV P303L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 246326 chr5 86703945 86703945 A G CCNH Nonsynonymous SNV F72L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 246327 chr7 121681018 121681018 T C rs746255679 PTPRZ1 Nonsynonymous SNV V1062A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 246328 chr5 95011140 95011140 C T rs776296440 SPATA9 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.361 246329 chr6 44797584 44797584 C T rs768935881 SUPT3H Nonsynonymous SNV R156H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 246330 chr18 23619364 23619364 C T rs753267000 SS18 Nonsynonymous SNV G222R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 246331 chr18 28721967 28721967 C G rs777877655 DSC1 Nonsynonymous SNV V419L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 246332 chr6 43015949 43015949 G A CUL7 Synonymous SNV L786L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 246333 chr5 108698676 108698676 T C rs139750867 PJA2 Nonsynonymous SNV N506S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 246334 chr6 52052585 52052585 C T rs138238811 IL17A Nonsynonymous SNV T71I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 246335 chr17 36061109 36061109 G A rs140781855 HNF1B Synonymous SNV P471P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.28 246336 chr18 43243857 43243857 C T rs374503319 SLC14A2 Nonsynonymous SNV R487W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 246337 chr18 48452240 48452240 C T rs140281750 ME2 Nonsynonymous SNV T429M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 246338 chr7 143141123 143141123 A G rs755540104 TAS2R60 Nonsynonymous SNV Y193C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.735 246339 chr5 135391462 135391462 A G rs188677757 TGFBI Nonsynonymous SNV M502V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.13 246340 chr6 74331548 74331548 G T rs147732875 SLC17A5 Synonymous SNV I319I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.553 246341 chr5 137726891 137726891 A T KDM3B Nonsynonymous SNV N524Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 246342 chr10 48389247 48389247 C T rs41284962 RBP3 Nonsynonymous SNV R544H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 246343 chr17 65574316 65574316 G A rs550357943 PITPNC1 Synonymous SNV P103P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.83 246344 chr7 150269710 150269710 C T rs61741801 GIMAP4 Synonymous SNV D198D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.528 246345 chr6 106975193 106975193 G A CRYBG1 Nonsynonymous SNV E1068K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 246346 chr17 41345457 41345457 A G rs1043002576 NBR1 Synonymous SNV V421V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.412 246347 chr10 69959174 69959174 C A rs71534278 MYPN Nonsynonymous SNV P1112H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 246348 chr5 149576289 149576289 C T rs2229414 SLC6A7 Synonymous SNV L76L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 246349 chr5 149585074 149585074 G A rs73279867 SLC6A7 Nonsynonymous SNV R530H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 246350 chr8 6338309 6338309 C T rs758318947 MCPH1 Nonsynonymous SNV T683M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 246351 chr17 42766921 42766921 G A rs956705314 CCDC43 Synonymous SNV F67F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 246352 chr17 42934506 42934506 G T rs774001446 EFTUD2 Nonsynonymous SNV T626K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 246353 chr17 43012283 43012283 A G rs370615966 KIF18B Synonymous SNV H164H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.909 246354 chr5 150675827 150675827 G A rs61729743 SLC36A3 Synonymous SNV V74V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.1 246355 chr17 43227224 43227224 G A rs552016551 HEXIM1 Nonsynonymous SNV G223S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 246356 chr6 116892771 116892771 G A rs371456042 RWDD1 Nonsynonymous SNV R9H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 246357 chr19 1122477 1122477 G A rs772178886 SBNO2 Nonsynonymous SNV A275V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 246358 chr17 46002738 46002738 G A rs78785116 SP2 Synonymous SNV K524K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.47 246359 chr10 75532721 75532721 G A rs762043359 FUT11 Synonymous SNV P210P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 246360 chr19 12298117 12298117 T C rs930764655 ZNF136 Synonymous SNV Y242Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.311 246361 chr10 75560157 75560157 G A rs369375036 ZSWIM8 Synonymous SNV P1646P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 246362 chr19 1271425 1271425 T G rs370839613 CIRBP Nonsynonymous SNV F103C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 246363 chr19 14079447 14079447 C T rs143903817 RFX1 Synonymous SNV A554A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 246364 chr17 48275339 48275339 G C rs72667032 COL1A1 Nonsynonymous SNV P205A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.88 246365 chr22 21983657 21983657 C T rs754407842 YDJC Nonsynonymous SNV E122K 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.4 246366 chr11 64118649 64118649 G A rs868401614 CCDC88B Synonymous SNV A960A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.023 246367 chr19 16687969 16687969 G A rs150780142 MED26 Synonymous SNV N224N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.142 246368 chr8 26371871 26371871 G A rs73678803 DPYSL2 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 246369 chr10 98064363 98064363 G C DNTT Nonsynonymous SNV V37L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.76 246370 chr10 98346564 98346564 A T TM9SF3 Nonsynonymous SNV V10E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 246371 chr17 59955403 59955403 T A rs777407819 INTS2 Synonymous SNV I767I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 246372 chr11 65983614 65983614 G A rs773415096 PACS1 Nonsynonymous SNV A229T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 246373 chr19 18279970 18279970 C T PIK3R2 Synonymous SNV L685L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 246374 chr17 62081026 62081026 G C rs748268418 ICAM2 Synonymous SNV A209A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.42 246375 chr6 2766290 2766290 C T WRNIP1 Nonsynonymous SNV A145V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 246376 chr19 18562392 18562392 G A rs78299636 ELL Synonymous SNV G312G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.331 246377 chr7 124387280 124387280 C T rs771385378 GPR37 Nonsynonymous SNV A381T 0 0 0 1 0 0 0.003 0 0 0 0 0 25 246378 chr7 128415166 128415166 C T rs201376061 OPN1SW Nonsynonymous SNV R132H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 246379 chr19 19946322 19946322 G A rs45447205 ZNF56 Nonsynonymous SNV V45M 0 0 0.007 0 0 0 0 2 0 0 0 0 8.347 246380 chr6 7247333 7247333 A G rs758092379 RREB1 Synonymous SNV P1495P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.505 246381 chr8 38700814 38700814 A C rs147356360 TACC1 Nonsynonymous SNV E300A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 246382 chr7 129824030 129824030 A C rs367630141 TMEM209 Nonsynonymous SNV F339L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 246383 chr8 39112033 39112033 T C rs77250406 ADAM32 Nonsynonymous SNV M569T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 246384 chr19 2121823 2121823 G A rs372250786 AP3D1 Synonymous SNV S337S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 246385 chr11 68701933 68701933 C A IGHMBP2 Synonymous SNV G513G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 246386 chr11 68747552 68747552 C A rs372338219 MRGPRD Stop gain E302X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 246387 chr8 59852017 59852017 G A rs75933966 TOX Synonymous SNV H85H 0.003 0 0 0 3 0 0 0 0 0 0 0 5.044 246388 chr19 2810750 2810750 G A THOP1 Synonymous SNV G585G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.425 246389 chr8 67428221 67428221 C T rs147854635 VXN Synonymous SNV G178G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.919 246390 chr7 4119168 4119168 A G rs1011359927 SDK1 Synonymous SNV P1092P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.635 246391 chr8 75157065 75157065 C T rs142421841 JPH1 Nonsynonymous SNV R535H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 246392 chr22 40817048 40817048 C T rs779215562 MRTFA Synonymous SNV E228E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.26 246393 chr7 142563912 142563912 G A rs199837644 EPHB6 Nonsynonymous SNV D142N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 246394 chr19 35550387 35550387 A - rs772537486 HPN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 246395 chr8 97978196 97978196 G A rs772782773 CPQ Nonsynonymous SNV D295N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 246396 chr7 19015480 19015480 T C rs376602616 HDAC9 Nonsynonymous SNV L981P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.6 246397 chr7 21695461 21695461 C G DNAH11 Nonsynonymous SNV H1652Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 246398 chr19 3730688 3730688 G A rs747125492 TJP3 Synonymous SNV K199K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.713 246399 chr22 50318040 50318040 G T CRELD2 Stop gain E241X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 36 246400 chr7 151845665 151845665 A G rs375171464 KMT2C Synonymous SNV N4449N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 246401 chr11 92534695 92534695 T C rs200241295 FAT3 Nonsynonymous SNV I2839T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 246402 chr7 29924092 29924092 C G rs145976937 WIPF3 Nonsynonymous SNV P328A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.408 246403 chr19 39086365 39086365 A C rs757172697 MAP4K1 Synonymous SNV S728S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.785 246404 chr8 139163863 139163863 C A rs200164132 FAM135B Nonsynonymous SNV G952V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.515 246405 chr2 100910801 100910801 C G LONRF2 Synonymous SNV T549T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.994 246406 chr18 67871437 67871437 C A rs199908033 RTTN Synonymous SNV R94R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.09 246407 chr17 78081664 78081664 C T rs370105640 GAA Synonymous SNV H308H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.87 246408 chr12 102020675 102020675 C T rs138170393 MYBPC1 Synonymous SNV S17S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.82 246409 chr8 142138902 142138902 C G rs777964497 DENND3 Synonymous SNV L32L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 246410 chr19 39914674 39914674 G A rs113732286 PLEKHG2 Synonymous SNV P908P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.402 246411 chr8 142186857 142186857 C T rs746440641 DENND3 Synonymous SNV H901H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 246412 chr19 40904647 40904647 G C rs760749713 PRX Synonymous SNV A87A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.68 246413 chr12 10774557 10774557 G C STYK1 Nonsynonymous SNV P328A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 246414 chr2 111551731 111551731 A G rs201529913 ACOXL Nonsynonymous SNV T109A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 246415 chr6 47846943 47846943 G A PTCHD4 Nonsynonymous SNV T546I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 246416 chr8 144942349 144942349 G A rs200293863 EPPK1 Synonymous SNV I1691I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.96 246417 chr6 56483777 56483777 A G rs2230864 DST Synonymous SNV N1685N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.324 246418 chr2 120776755 120776755 A G rs138231769 EPB41L5 Nonsynonymous SNV H32R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 246419 chr6 64394121 64394121 A G rs35294942 PHF3 Synonymous SNV V78V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.374 246420 chr6 64394320 64394320 G A rs114037821 PHF3 Nonsynonymous SNV G145R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.32 246421 chr6 64423229 64423229 G A rs115524485 PHF3 Synonymous SNV R1827R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.917 246422 chr19 44514710 44514710 T C ZNF230 Synonymous SNV C173C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.62 246423 chr12 116446415 116446415 G A rs148895195 MED13L Synonymous SNV L601L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.32 246424 chr15 76165795 76165795 G A rs139532885 UBE2Q2 Synonymous SNV E123E 0.003 0 0 0 3 0 0 0 0 0 0 0 13.11 246425 chr19 44778783 44778783 T C ZNF233 Nonsynonymous SNV F657S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 246426 chr7 87765323 87765323 C T rs376804868 ADAM22 Synonymous SNV S398S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.49 246427 chr19 46216144 46216144 C T rs375383163 FBXO46 Nonsynonymous SNV A204T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 246428 chr9 5522598 5522598 G C rs1037381642 PDCD1LG2 Nonsynonymous SNV A18P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 246429 chr7 47955167 47955167 A G rs17131941 PKD1L1 Synonymous SNV L364L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.189 246430 chr11 2005819 2005819 G A MRPL23-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.192 246431 chr7 94185016 94185016 - T rs777757305 CASD1 Frameshift insertion C509Lfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 246432 chr18 28651592 28651592 A G rs753742489 DSC2 Synonymous SNV L702L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.62 246433 chr19 47878911 47878911 C T rs201215124 DHX34 Synonymous SNV D751D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.397 246434 chr9 15591519 15591519 A G CCDC171 Nonsynonymous SNV M170V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.645 246435 chr7 99226819 99226819 G A rs886482616 ZSCAN25 Nonsynonymous SNV G271R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 246436 chr9 18574170 18574170 G A ADAMTSL1 Nonsynonymous SNV G127E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 246437 chr19 49303513 49303513 C T rs139406598 BCAT2 Synonymous SNV Q22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 246438 chr19 49425109 49425114 AGCAGC - rs767832500 NUCB1 Q406_Q407del 0 0 0.007 0 0 0 0 2 0 0 0 0 246439 chr15 90784688 90784688 C G GDPGP1 Nonsynonymous SNV P183R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.4 246440 chr9 35562556 35562556 A G rs369110341 FAM166B Nonsynonymous SNV V187A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 246441 chr9 35563276 35563276 C T rs780659260 FAM166B Nonsynonymous SNV R58H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 246442 chr18 44173724 44173724 C T LOXHD1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 246443 chr7 6693486 6693486 C T ZNF316 Synonymous SNV G753G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 246444 chr9 37745539 37745539 C T rs61170721 FRMPD1 Synonymous SNV T1170T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.48 246445 chr19 50862315 50862315 G A rs141646705 NAPSA Nonsynonymous SNV L330F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 246446 chr7 77552051 77552051 C G PHTF2 Nonsynonymous SNV R321G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 246447 chr12 21375289 21375289 C T rs71581941 SLCO1B1 Stop gain R580X 0.002 0.005 0.007 0 2 2 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 46 246448 chr9 80144051 80144051 G A rs146277431 GNA14 Synonymous SNV T81T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 246449 chr19 52004779 52004779 A C rs138976600 SIGLEC12 Nonsynonymous SNV V70G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 246450 chr9 90321133 90321133 G A rs992281100 DAPK1 Synonymous SNV L1049L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.057 246451 chr6 144898360 144898360 C A rs368195054 UTRN Nonsynonymous SNV A2472D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 246452 chr7 91708797 91708797 T A AKAP9 Nonsynonymous SNV S2450R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.37 246453 chr12 2659137 2659137 C T rs368065584 CACNA1C Synonymous SNV S473S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.77 246454 chr7 91752459 91752459 T A CYP51A1 Nonsynonymous SNV N354I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 246455 chr7 94174871 94174871 C G CASD1 Synonymous SNV L223L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.12 246456 chr19 52909200 52909200 A G rs370656674 ZNF528 Nonsynonymous SNV Q19R 0 0 0.01 0 0 0 0 3 0 0 0 0 11.24 246457 chr16 1841792 1841792 C G IGFALS Synonymous SNV L247L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.957 246458 chr9 98734472 98734472 T C ERCC6L2 Synonymous SNV T824T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.696 246459 chr7 98547356 98547356 G A rs373632999 TRRAP Nonsynonymous SNV R1651H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 246460 chr7 107580552 107580552 G A LAMB1 Nonsynonymous SNV P1215S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 246461 chr7 107703417 107703417 G A rs151001135 LAMB4 Synonymous SNV G1028G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.724 246462 chr19 35449760 35449760 G A rs2651080 ZNF792 Synonymous SNV T333T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.75 246463 chr19 54849211 54849211 C T rs565626810 LILRA4 Synonymous SNV V217V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.154 246464 chr2 203977990 203977990 A G NBEAL1 Nonsynonymous SNV I790V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.739 246465 chr19 3614429 3614429 G A rs189935091 CACTIN Synonymous SNV L441L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.96 246466 chr9 114089883 114089883 G A rs61748722 OR2K2 Synonymous SNV Y277Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.245 246467 chr9 114090277 114090277 G A rs73656223 OR2K2 Nonsynonymous SNV T146M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 246468 chr7 128434498 128434498 G A rs143537881 CCDC136 Nonsynonymous SNV G38D 0 0.003 0 0 0 1 0 0 0 0 0 0 26 246469 chr19 55752441 55752441 A G PPP6R1 Nonsynonymous SNV F390L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 246470 chr12 49221656 49221656 C T rs531076421 CACNB3 Nonsynonymous SNV R436W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246471 chr19 11150150 11150150 A T rs186823009 SMARCA4 Nonsynonymous SNV D1396V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.11 246472 chr2 215815603 215815603 C G rs757244082 ABCA12 Nonsynonymous SNV E1966D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.1 246473 chr12 5153493 5153493 G A rs376660949 KCNA5 Synonymous SNV A60A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 17.24 246474 chr19 56733357 56733357 C T rs368749222 ZSCAN5A Nonsynonymous SNV V243M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 246475 chr19 12779179 12779179 T C rs979674522 WDR83OS Synonymous SNV P105P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.126 246476 chr8 134256628 134256628 C T rs150101908 NDRG1 Synonymous SNV A221A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.43 246477 chr7 143053649 143053649 G A FAM131B Synonymous SNV N265N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.304 246478 chr2 220362486 220362486 A C SPEGNB Nonsynonymous SNV K161Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.7 246479 chr8 143832518 143832518 G A rs751395272 LYPD2 Synonymous SNV C43C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 246480 chr9 130206767 130206767 A G rs148968211 ZNF79 Nonsynonymous SNV N129S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.382 246481 chr19 6411778 6411778 A G rs765899116 LOC390877 Nonsynonymous SNV E72G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.701 246482 chr2 228754582 228754582 A G rs150347456 DAW1 Nonsynonymous SNV S42G 0.003 0 0 0 3 0 0 0 0 0 0 0 3.824 246483 chr19 7619527 7619528 CG - PNPLA6 P852Lfs*40 0 0 0.003 0 0 0 0 1 0 0 0 0 246484 chr19 7619530 7619530 - TT PNPLA6 Frameshift insertion W853Sfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 246485 chr19 17720896 17720896 T C rs753414273 UNC13A Nonsynonymous SNV N1555S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 246486 chr19 8137052 8137052 G A rs10420783 FBN3 Synonymous SNV P2656P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.812 246487 chr16 57760095 57760095 A G rs752790673 DRC7 Nonsynonymous SNV D560G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 246488 chr12 57589705 57589705 C T rs148336699 LRP1 Nonsynonymous SNV R2874C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246489 chr9 134390890 134390890 C T rs369651101 POMT1 Nonsynonymous SNV A266V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 246490 chr8 145739893 145739893 G C rs377298374 RECQL4 Nonsynonymous SNV P546R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.471 246491 chr7 36447449 36447449 C T rs564754015 ANLN Nonsynonymous SNV T327M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 246492 chr8 9912040 9912041 CC - rs772058587 MSRA R6Efs*65 0.001 0.003 0 0 1 1 0 0 0 0 0 0 246493 chr8 10389016 10389016 C T rs138866592 PRSS55 Nonsynonymous SNV R187C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 246494 chr7 44715768 44715768 G A rs373038693 OGDH Nonsynonymous SNV R409H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.645 246495 chr8 22476230 22476230 A T rs148552616 CCAR2 Nonsynonymous SNV E773V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 246496 chr1 100194164 100194164 C T rs894624543 FRRS1 Synonymous SNV A297A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 246497 chr8 2800104 2800104 G C CSMD1 Nonsynonymous SNV D3475E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 246498 chr1 107599887 107599889 CTC - rs777901002 PRMT6 L185del 0 0 0.003 0 0 0 0 1 0 0 0 0 246499 chr8 22865156 22865156 C T rs142549794 RHOBTB2 Synonymous SNV N473N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.41 246500 chr1 109325138 109325138 G C STXBP3 Nonsynonymous SNV E302Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 246501 chr8 30705385 30705385 C T rs751115105 TEX15 Synonymous SNV P766P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 246502 chr8 23429096 23429096 G A rs748500259 SLC25A37 Nonsynonymous SNV A98T 0 0.003 0 0 0 1 0 0 0 0 0 0 29 246503 chr7 79828617 79828617 T C rs35545354 GNAI1 Nonsynonymous SNV I75T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 246504 chr1 110467433 110467433 G A rs149031792 CSF1 Synonymous SNV L535L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.742 246505 chr7 91729033 91729033 C T rs575518454 AKAP9 Synonymous SNV G3582G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 246506 chr12 99119294 99119294 G A rs149589840 APAF1 Synonymous SNV T1090T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 246507 chr8 66617140 66617140 C G rs150643671 MTFR1 Nonsynonymous SNV Q132E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 246508 chr10 25887413 25887413 C T rs756016888 GPR158 Nonsynonymous SNV T953I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 246509 chr16 86612467 86612467 C A rs145237316 FOXL1 Synonymous SNV T46T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 13.31 246510 chr8 74858883 74858883 C T rs146901695 ELOC Synonymous SNV A91A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.41 246511 chr8 71039122 71039122 C T rs61754972 NCOA2 Nonsynonymous SNV G1212D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 246512 chr1 1248465 1248465 G A rs776534078 INTS11 Nonsynonymous SNV H263Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 246513 chr19 52002956 52002956 G A SIGLEC12 Nonsynonymous SNV P157S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 246514 chr8 90993743 90993745 TGT - NBN T60del 0 0.003 0 0 0 1 0 0 0 0 0 0 246515 chr8 90993746 90993746 T C rs758457183 NBN Synonymous SNV Q59Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.435 246516 chr10 49988006 49988006 G A rs984875077 WDFY4 Nonsynonymous SNV D1140N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 246517 chr13 33635285 33635285 C T rs146275953 KL Nonsynonymous SNV P690L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 246518 chr13 33684218 33684218 C T rs145329907 STARD13 Nonsynonymous SNV G829R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 246519 chr13 33703698 33703698 C A rs142906014 STARD13 Synonymous SNV G364G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.275 246520 chr1 152595558 152595558 G T rs772038159 LCE3A Nonsynonymous SNV Q8K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 246521 chr11 72408444 72408444 C T rs148257169 ARAP1 Synonymous SNV T653T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.08 246522 chr11 75167837 75167837 C T GDPD5 Nonsynonymous SNV V114M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 246523 chr13 49796481 49796481 G A rs141878008 MLNR Nonsynonymous SNV E403K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 246524 chr2 97526939 97526939 A C SEMA4C Synonymous SNV L642L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 246525 chr2 99685451 99685451 T C TSGA10 Nonsynonymous SNV K264R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 246526 chr9 125273133 125273133 C G rs749849611 OR1J2 Nonsynonymous SNV P18R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 246527 chr10 75185785 75185785 C T MSS51 Nonsynonymous SNV E285K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 246528 chr13 77838086 77838086 T C MYCBP2 Nonsynonymous SNV N470S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 246529 chr10 76781872 76781872 A G rs933289359 KAT6B Synonymous SNV E304E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 246530 chr10 76781875 76781875 A C rs754680177 KAT6B Nonsynonymous SNV E305D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 246531 chr10 76781881 76781881 A G rs551589427 KAT6B Synonymous SNV E307E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 246532 chr9 125552081 125552081 C A rs768524896 OR5C1 Nonsynonymous SNV N290K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 246533 chr1 160651003 160651003 G A CD48 Nonsynonymous SNV P214L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 246534 chr8 144991461 144991461 G A rs782543480 PLEC Synonymous SNV C4162C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.182 246535 chr14 104001110 104001110 C T rs991110329 TRMT61A Synonymous SNV A274A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.5 246536 chr11 94501697 94501697 G A rs373449240 AMOTL1 Nonsynonymous SNV R7H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 24.3 246537 chr9 131344973 131344973 C A SPTAN1 Nonsynonymous SNV L551M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 246538 chr10 95191191 95191191 G T MYOF Nonsynonymous SNV L107I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.42 246539 chr1 16344447 16344447 T C rs767941727 HSPB7 Synonymous SNV R4R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.67 246540 chr9 132375518 132375518 C A C9orf50 Nonsynonymous SNV K352N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.49 246541 chr10 96612522 96612522 C G rs192154563 CYP2C19 Nonsynonymous SNV R442G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 246542 chr10 97447094 97447094 T A TCTN3 Nonsynonymous SNV T216S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 246543 chr1 169578860 169578860 C T rs138017338 SELP Synonymous SNV A405A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 246544 chr10 99969219 99969219 A T rs148658183 R3HCC1L Nonsynonymous SNV S450C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 246545 chr17 36718008 36718008 - CGCCGTACAGCGGGCCGC SRCIN1 G463_D464insGGPLYG 0.001 0 0 0 1 0 0 0 0 0 0 0 246546 chr1 17666241 17666241 A G PADI4 Synonymous SNV T195T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 246547 chr9 19276282 19276282 C T rs542958751 DENND4C Nonsynonymous SNV T37I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 14.28 246548 chr19 7527187 7527187 G T rs777868782 ARHGEF18 Nonsynonymous SNV G626W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 246549 chr9 27048156 27048156 G A rs370969303 IFT74 Nonsynonymous SNV R406H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.85 246550 chr1 179095669 179095669 G A rs766361129 ABL2 Nonsynonymous SNV P156L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 246551 chr12 110238507 110238507 G C rs56217500 TRPV4 Nonsynonymous SNV L257V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23.8 246552 chr14 21623343 21623343 G A rs369017740 OR5AU1 Nonsynonymous SNV S230L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 246553 chr1 182026634 182026634 C T rs768331566 ZNF648 Nonsynonymous SNV G171E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.773 246554 chr14 23828960 23828960 C T EFS Nonsynonymous SNV G150R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 246555 chr10 108337238 108337238 T G rs116726701 SORCS1 Nonsynonymous SNV R1149S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.68 246556 chr17 3926093 3926093 A T rs202133620 ZZEF1 Synonymous SNV T2374T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.238 246557 chr1 183938565 183938565 A G rs200071236 COLGALT2 Nonsynonymous SNV W224R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.232 246558 chr1 184006377 184006377 C T rs147120459 COLGALT2 Nonsynonymous SNV G39R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.3 246559 chr1 186083991 186083991 G A HMCN1 Nonsynonymous SNV A3773T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.4 246560 chr1 186089268 186089268 A G rs200395622 HMCN1 Nonsynonymous SNV N4074D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 246561 chr9 140063984 140063984 T C rs149172628 LRRC26 Nonsynonymous SNV T138A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 246562 chr9 72755151 72755151 G A rs368297806 MAMDC2 Nonsynonymous SNV R362Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 246563 chr8 1998935 1998935 T C rs749553170 MYOM2 Nonsynonymous SNV S19P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 246564 chr10 120933271 120933271 G C rs202061531 PRDX3 Nonsynonymous SNV A142G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 246565 chr1 198665989 198665989 C T rs143702097 PTPRC Synonymous SNV T83T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 246566 chr10 124380808 124380808 G A rs369502206 DMBT1 Synonymous SNV G1083G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 246567 chr10 124380809 124380809 A C rs769699362 DMBT1 Nonsynonymous SNV N1084H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 246568 chr10 124380811 124380811 T C rs775118458 DMBT1 Synonymous SNV N1084N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 246569 chr10 124380817 124380817 C T rs763688822 DMBT1 Synonymous SNV S1086S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.125 246570 chr10 124380841 124380841 A T rs377489432 DMBT1 Nonsynonymous SNV K1094N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 246571 chr12 124393917 124393917 C G rs201747286 DNAH10 Nonsynonymous SNV P3191A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.62 246572 chr14 51230550 51230550 C T rs141061548 NIN Nonsynonymous SNV E590K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 246573 chr14 51238089 51238089 G A rs769471241 NIN Nonsynonymous SNV A360V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246574 chr14 52485937 52485937 C T rs146139281 NID2 Nonsynonymous SNV R957Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 246575 chr8 17137946 17137946 T C VPS37A Synonymous SNV L296L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.021 246576 chr14 57741362 57741362 T G AP5M1 Nonsynonymous SNV L159V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.644 246577 chr14 58332513 58332513 C A SLC35F4 Nonsynonymous SNV A11S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 246578 chr9 100364900 100364900 A C rs145024955 TSTD2 Nonsynonymous SNV S468A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.078 246579 chr12 132395342 132395342 G A rs757464419 ULK1 Synonymous SNV P315P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.49 246580 chr1 205238755 205238755 C T rs147757125 TMCC2 Synonymous SNV S250S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.822 246581 chr1 20662809 20662809 G A rs1007602102 VWA5B1 Nonsynonymous SNV R591Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.82 246582 chr1 20827258 20827258 G A rs148112540 MUL1 Synonymous SNV R328R 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 6.006 246583 chr1 20827270 20827270 G A rs558234273 MUL1 Synonymous SNV T324T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.717 246584 chr14 63174561 63174561 C T rs376837885 KCNH5 Nonsynonymous SNV A878T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 24.3 246585 chr14 64540834 64540834 G C rs778347960 SYNE2 Nonsynonymous SNV E3616Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.63 246586 chr12 15070220 15070220 G C rs200754170 ERP27 Nonsynonymous SNV F55L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 246587 chr9 114341159 114341159 C T rs201572502 PTGR1 Nonsynonymous SNV V190I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 246588 chr1 111061070 111061070 C T rs148190888 KCNA10 Nonsynonymous SNV D114N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.86 246589 chr11 373771 373771 C T rs549768400 B4GALNT4 Synonymous SNV Y242Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 246590 chr9 86616428 86616428 G A rs752835999 RMI1 Nonsynonymous SNV R176H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 246591 chr9 117113207 117113207 G A rs726891 AKNA Synonymous SNV A932A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.771 246592 chr17 55197664 55197664 C T AKAP1 Synonymous SNV D897D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 246593 chr17 56295979 56295979 A G rs375170572 MKS1 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 25.8 246594 chr19 58132333 58132333 C T ZNF134 Synonymous SNV H282H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 246595 chr9 91991796 91991796 G A rs753056223 SEMA4D Stop gain Q612X 0 0 0 1 0 0 0.003 0 0 0 0 0 15.66 246596 chr8 56717560 56717560 G A TGS1 Nonsynonymous SNV G610E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 246597 chr1 226109934 226109934 C T rs148023221 PYCR2 Synonymous SNV A96A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 17.96 246598 chr19 6430031 6430031 C T rs200631041 SLC25A41 Nonsynonymous SNV V169I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 246599 chrX 105193709 105193709 A G rs752164569 NRK Nonsynonymous SNV D1499G 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 23.8 246600 chr3 27216204 27216204 C T rs141419403 NEK10 Nonsynonymous SNV E188K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 246601 chrX 107412729 107412729 A G rs774057388 COL4A6 Synonymous SNV D1205D 0.002 0 0.003 1 2 0 0.003 1 1 0 0 0 0.055 246602 chrX 125954826 125954826 C A rs200229374 PRR32 Nonsynonymous SNV Q69K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.73 246603 chr11 1030604 1030604 C T rs760111082 MUC6 Synonymous SNV P287P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.206 246604 chr15 22963799 22963799 C T rs141801648 CYFIP1 Synonymous SNV R340R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 246605 chr11 2999567 2999567 G C rs201736247 NAP1L4 Stop gain S7X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 246606 chr8 124518695 124518695 G A rs34225633 FBXO32 Synonymous SNV H112H 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 7.333 246607 chr11 4471139 4471139 G A rs150771960 OR52K2 Synonymous SNV A190A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.755 246608 chr1 156532932 156532932 C T rs76102113 IQGAP3 Synonymous SNV R264R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.97 246609 chr17 74901289 74901289 G A rs578149493 MGAT5B Synonymous SNV L254L 0.003 0 0 0 4 0 0 0 0 0 0 0 10.98 246610 chr8 133645040 133645041 TT - rs397515424 LRRC6 K118Efs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 246611 chr1 156708212 156708212 T G rs1015581912 MRPL24 Nonsynonymous SNV K68Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 246612 chrX 50376657 50376657 G A rs373003318 SHROOM4 Nonsynonymous SNV P806S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.232 246613 chrX 50378384 50378384 C T rs200540216 SHROOM4 Nonsynonymous SNV R230Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 246614 chr15 41989039 41989039 C G rs982272047 MGA Nonsynonymous SNV P611A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.739 246615 chr11 5510117 5510117 C G rs199526639 OR52D1 Nonsynonymous SNV P61A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 246616 chrX 70357078 70357078 A G rs587778438 MED12 Nonsynonymous SNV M1865V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.835 246617 chrX 71425405 71425405 G T ERCC6L Nonsynonymous SNV P1071Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.837 246618 chr9 139973707 139973707 G A rs373465522 UAP1L1 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 246619 chr1 248512192 248512192 G A OR14C36 Nonsynonymous SNV G39E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 246620 chr15 43817548 43817548 T G rs746276467 MAP1A Nonsynonymous SNV F1293V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 246621 chrY 14952371 14952371 G A rs374339283 USP9Y Synonymous SNV E1973E 0 0 0 2 0 0 0.005 0 0 0 0 1 1.599 246622 chr11 5922299 5922299 C T OR52E5 Nonsynonymous SNV A102V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 246623 chr15 50494776 50494776 T C rs762705881 SLC27A2 Nonsynonymous SNV Y261H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 246624 chr15 52439669 52439669 C T rs900137380 GNB5 Nonsynonymous SNV A119T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 246625 chr1 27878453 27878453 G A rs759070023 AHDC1 Synonymous SNV S58S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 246626 chr1 28906118 28906118 A G rs201358420 SNHG12 0 0 0.003 0 0 0 0 1 0 0 0 0 6.14 246627 chr15 62241786 62241786 C G rs760460320 VPS13C Nonsynonymous SNV D1496H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.2 246628 chr15 62273580 62273580 T C rs769118498 VPS13C Synonymous SNV E666E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.683 246629 chr15 62273600 62273600 G C rs765303583 VPS13C Nonsynonymous SNV Q660E 0.003 0 0 0 3 0 0 0 0 0 0 0 9.825 246630 chr15 64019934 64019934 G C rs530606514 HERC1 Synonymous SNV L1086L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.63 246631 chr15 64967311 64967311 C T ZNF609 Nonsynonymous SNV A753V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.538 246632 chr1 172558213 172558213 T A rs76761114 SUCO Nonsynonymous SNV Y95N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Benign 1.929 246633 chr15 66613040 66613040 T C DIS3L Synonymous SNV S306S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.088 246634 chr12 9229986 9229986 C T rs113563450 A2M Nonsynonymous SNV A953T 0 0 0 1 0 0 0.003 0 0 0 0 0 34 246635 chr9 6814646 6814646 A G rs61750313 KDM4C Synonymous SNV R112R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.95 246636 chr9 12694017 12694017 C G rs148699209 TYRP1 Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.925 246637 chr1 39878991 39878991 T A KIAA0754 Synonymous SNV A1018A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.265 246638 chr15 74180821 74180821 C T TBC1D21 Synonymous SNV A279A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 246639 chr10 29822186 29822186 G A rs755075820 SVIL Synonymous SNV P370P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.61 246640 chr15 74337107 74337107 G A rs202062354 PML Nonsynonymous SNV V803M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 246641 chr11 17631682 17631682 G A rs189248390 OTOG Nonsynonymous SNV R1624H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.92 246642 chr9 24544206 24544206 A G rs1020094576 IZUMO3 Synonymous SNV Y155Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.059 246643 chr11 17633832 17633832 G A rs771001348 OTOG Nonsynonymous SNV V2095M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 246644 chr1 144930802 144930802 T A rs146001390 PDE4DIP Nonsynonymous SNV I303F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.48 246645 chr11 18472515 18472515 A G rs150687822 LDHC Synonymous SNV L280L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.396 246646 chr1 183184650 183184650 G C rs12065473 LAMC2 Nonsynonymous SNV A111P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign 17.89 246647 chr13 103387430 103387430 G A rs200433143 CCDC168 Nonsynonymous SNV S5206F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 246648 chr15 77134237 77134237 C T rs370733264 SCAPER Synonymous SNV T77T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 246649 chr15 78369650 78369650 G T rs932690270 TBC1D2B Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 246650 chr15 79292108 79292108 C T rs759233302 RASGRF1 Nonsynonymous SNV R140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 246651 chr9 36171081 36171081 T - CCIN F528Lfs*50 0.001 0 0 0 1 0 0 0 0 0 0 0 246652 chr9 71628318 71628318 C T PRKACG Nonsynonymous SNV E231K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 246653 chr1 51439912 51439912 C T rs2500450 CDKN2C Synonymous SNV N159N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 246654 chr1 51887614 51887614 G A rs570717866 EPS15 Synonymous SNV S5S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.85 246655 chr11 33731839 33731839 C T rs144931418 CD59 Nonsynonymous SNV D74N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 246656 chr1 53358589 53358589 T C rs549465781 ZYG11A Nonsynonymous SNV M405T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.869 246657 chr1 198505809 198505809 C T rs530571960 ATP6V1G3 Stop gain W43X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.658 246658 chr15 86122213 86122213 A G rs1002903243 AKAP13 Nonsynonymous SNV Q305R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 246659 chr11 35513645 35513645 C G rs146419823 PAMR1 Nonsynonymous SNV K109N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 246660 chr9 79318313 79318313 G A rs114619409 PRUNE2 Nonsynonymous SNV T2739M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.57 246661 chr1 55223593 55223593 G T rs201039511 PARS2 Synonymous SNV T414T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 246662 chr9 79320439 79320439 T G rs116030326 PRUNE2 Nonsynonymous SNV I2251L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 246663 chr9 79321308 79321319 TCCTGACACTGC - rs144828766 PRUNE2 E1957_Q1960del 0.001 0 0 0 1 0 0 0 0 0 0 0 246664 chr9 79322761 79322761 C T rs115567769 PRUNE2 Nonsynonymous SNV V1477M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.826 246665 chr1 201286736 201286736 C G rs150414253 PKP1 Nonsynonymous SNV L295V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.5 246666 chr11 48181504 48181504 C A rs765318766 PTPRJ Nonsynonymous SNV P1154H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 246667 chr11 48181505 48181505 C A rs750897831 PTPRJ Synonymous SNV P1154P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 246668 chr13 32912174 32912174 A G rs28897722 BRCA2 Nonsynonymous SNV N1228D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 17.81 246669 chr15 90800881 90800881 A G TTLL13P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 246670 chr1 6704634 6704634 C T rs767604148 DNAJC11 Nonsynonymous SNV V361I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 246671 chr1 67804320 67804320 - TTA rs578200723 IL12RB2 L325_D326insL 0 0 0.003 0 0 0 0 1 0 0 0 0 246672 chr10 73572583 73572583 C T rs111033536 CDH23 Nonsynonymous SNV A87V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 246673 chr10 73848038 73848038 C T rs139928182 SPOCK2 Nonsynonymous SNV A17T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.018 246674 chr10 75556427 75556427 G A ZSWIM8-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 246675 chr16 1255140 1255140 G A rs760796226 CACNA1H Synonymous SNV E826E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 246676 chr1 880464 880475 CCTCCTCCTCGT - rs368313199 NOC2L D702_E705del 0 0 0.003 0 0 0 0 1 0 0 0 0 246677 chr1 89477510 89477510 C T rs376564428 GBP3, GBP3 Nonsynonymous SNV V223I 0 0 0.007 0 0 0 0 2 0 0 1 0 3.507 246678 chr1 161203118 161203118 C T rs2307425 NR1I3 Synonymous SNV S54S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 246679 chr10 96305680 96305680 T C rs113154675 HELLS Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.24 246680 chr1 16258938 16258938 C A SPEN Nonsynonymous SNV A2068D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.966 246681 chr10 96740981 96740981 C T rs28371685 CYP2C9 Nonsynonymous SNV R335W 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign, drug response 27.5 246682 chr1 9324688 9324688 C T rs375067657 H6PD Synonymous SNV G723G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 246683 chr19 1085863 1085863 A G rs61734935 ARHGAP45 Nonsynonymous SNV E725G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.96 246684 chr16 19725706 19725708 TTT - KNOP1 K217del 0.001 0 0 0 1 0 0 0 0 0 0 0 246685 chr19 1114405 1114405 G T rs61238296 SBNO2 Synonymous SNV R577R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.597 246686 chr9 121929726 121929726 G A rs139063583 BRINP1 Nonsynonymous SNV S641L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 21.2 246687 chr4 24810155 24810155 C T rs527861291 CCDC149 Synonymous SNV P482P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.925 246688 chr10 99094124 99094124 A G rs561034462 FRAT2 Nonsynonymous SNV V69A 0 0.005 0 0 0 2 0 0 0 1 0 0 0.002 246689 chr9 125033245 125033245 C T rs147625854 MRRF Synonymous SNV P25P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.25 246690 chr20 11249243 11249243 A G rs575659219 LOC339593 0 0 0.003 0 0 0 0 1 0 0 0 0 1.472 246691 chr20 13867052 13867052 A C rs192491127 SEL1L2 Nonsynonymous SNV V261G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.48 246692 chr19 12996614 12996614 C T rs1015369830 KLF1 Nonsynonymous SNV A144T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.49 246693 chr16 22198097 22198097 G A rs950785814 SDR42E2 Synonymous SNV P536P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.122 246694 chr14 104643401 104643401 G A KIF26A Nonsynonymous SNV V1426I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.544 246695 chr16 23079465 23079465 G T rs764283970 USP31 Nonsynonymous SNV P1321T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 246696 chr16 25228569 25228569 C T rs142212512 AQP8 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.195 246697 chr14 105958447 105958447 T C TEDC1 Nonsynonymous SNV V77A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 246698 chr10 72195373 72195373 G A rs375466579 NODAL Nonsynonymous SNV P54L 0 0 0 3 0 0 0.008 0 0 0 0 0 7.322 246699 chr1 175097272 175097272 C A rs757566890 TNN Nonsynonymous SNV S1050R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 246700 chr19 1507608 1507608 G A rs144275092 ADAMTSL5 Synonymous SNV I212I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.58 246701 chr11 57479493 57479493 A G MED19 Synonymous SNV P70P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.875 246702 chr11 57799122 57799122 G A rs533557504 OR6Q1 Nonsynonymous SNV R233H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 246703 chr9 130690052 130690052 C T PIP5KL1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 246704 chr1 176740242 176740242 C T PAPPA2 Synonymous SNV D1547D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 246705 chr16 30537274 30537274 G A ZNF768 Nonsynonymous SNV P63S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 246706 chr9 131476916 131476916 C G rs539388542 PKN3 Synonymous SNV P519P 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 10.66 246707 chr19 17038831 17038831 C T rs372897642 CPAMD8 Nonsynonymous SNV A1120T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 246708 chr19 17169637 17169637 G A rs145277823 HAUS8 Nonsynonymous SNV T156M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 246709 chr9 134398462 134398462 A G rs1047346627 POMT1 Nonsynonymous SNV D564G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.2 246710 chr20 33320379 33320379 T C rs6060022 NCOA6 Nonsynonymous SNV I1002V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.077 246711 chr20 33329309 33329309 C T rs142540483 NCOA6 Nonsynonymous SNV S1584N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.8 246712 chr20 33507324 33507324 C T rs57092223 ACSS2 Synonymous SNV A212A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.02 246713 chr20 33565466 33565466 C T rs201494323 MYH7B Nonsynonymous SNV P13S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22.6 246714 chr16 3458763 3458763 C T ZNF174 Synonymous SNV C356C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.057 246715 chr20 33576026 33576026 C T rs183060273 MYH7B Synonymous SNV F558F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 17.2 246716 chr20 33596508 33596508 C T rs184368303 TRPC4AP Synonymous SNV L518L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.58 246717 chr20 33764041 33764041 C T rs186899359 PROCR Synonymous SNV F131F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.74 246718 chr19 17373499 17373499 G A rs374235282 USHBP1 Synonymous SNV S104S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.948 246719 chr20 33857655 33857655 C T rs111895945 MMP24 Synonymous SNV I429I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.41 246720 chr20 34064383 34064383 C T rs145878385 CEP250 Nonsynonymous SNV A609V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 30 246721 chr9 136333052 136333052 C T rs143531436 CACFD1 Synonymous SNV V68V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.19 246722 chr1 1905508 1905508 C G rs574241498 CFAP74 Nonsynonymous SNV Q210H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.014 246723 chr20 42891938 42891938 C G rs751590077 GDAP1L1 Nonsynonymous SNV P148A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 246724 chr16 55601329 55601329 C T rs187418648 CAPNS2 Nonsynonymous SNV R221C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 246725 chr19 18981039 18981039 C G rs768421187 GDF1 Synonymous SNV L26L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.624 246726 chr11 65639717 65639717 T G EFEMP2 Nonsynonymous SNV T37P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 246727 chr11 66105268 66105268 G A rs776707793 BRMS1 Synonymous SNV T248T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.419 246728 chr9 140328470 140328470 C T rs528619859 NOXA1 Synonymous SNV S355S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.97 246729 chr9 140344512 140344512 - ACGGGTCACCCAGTGGCAGGGT rs748327808 MIR7114 0.001 0 0 1 1 0 0.003 0 0 0 0 0 246730 chr1 20987850 20987850 C T DDOST Synonymous SNV R15R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.03 246731 chr11 74204351 74204351 T A LIPT2 Nonsynonymous SNV Q133L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.589 246732 chr11 74638486 74638486 T C rs61746074 XRRA1 Nonsynonymous SNV N150D 0.001 0 0 0 1 0 0 0 0 0 0 0 27 246733 chr11 1017464 1017467 TCTG - MUC6 R1779Pfs*69 0 0.003 0 0 0 1 0 0 0 0 0 0 246734 chr14 64935160 64935160 G C rs201096516 AKAP5 Nonsynonymous SNV K16N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.37 246735 chr20 62366520 62366520 G C rs774274621 ZGPAT Nonsynonymous SNV R334P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 246736 chr11 85435098 85435098 G A rs376050611 SYTL2 Nonsynonymous SNV A1768V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 246737 chr20 62378485 62378485 G A rs750893784 ZBTB46 Nonsynonymous SNV S523F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 246738 chr20 62421485 62421485 T C rs146183314 ZBTB46 Nonsynonymous SNV D209G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.209 246739 chr11 1093617 1093617 C T MUC2 Synonymous SNV T1812T 0 0 0 2 0 0 0.005 0 0 0 0 0 3.077 246740 chr11 86519296 86519296 G A rs149896148 PRSS23 Nonsynonymous SNV R204Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 246741 chr11 93779084 93779084 G A rs770260103 HEPHL1 0.001 0 0 0 1 0 0 0 0 0 0 0 26 246742 chr21 31744131 31744131 C T rs769180381 KRTAP13-2 Nonsynonymous SNV S134N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.476 246743 chr21 32492772 32492772 C T rs372955793 TIAM1 Nonsynonymous SNV G597R 0.003 0 0.003 0 4 0 0 1 0 0 0 0 23.7 246744 chr19 40197267 40197267 G A rs61737337 LGALS14 Nonsynonymous SNV V16I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 246745 chr11 102584569 102584569 A G rs570787443 MMP8 Nonsynonymous SNV F404L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.404 246746 chr21 36410559 36410559 G A rs564929578 RUNX1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.126 246747 chr11 3687749 3687749 G T rs200527798 CHRNA10 Nonsynonymous SNV A108E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 246748 chr11 108123621 108123621 T G rs546087885 ATM Nonsynonymous SNV F627C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.4 246749 chr21 41137563 41137563 C G rs61739655 IGSF5 Nonsynonymous SNV L68V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.7 246750 chr21 43134476 43134476 T C rs148172534 LINC00479 0 0 0.007 0 0 0 0 2 0 0 0 0 1.092 246751 chr1 23280209 23280209 - GCCGCAGGA LACTBL1 R355_P356insLLR 0.001 0 0 0 1 0 0 0 0 0 0 0 246752 chr11 114393716 114393718 GTT - rs768014323 NXPE1 N189del 0.001 0 0 0 1 0 0 0 0 0 0 0 246753 chr11 5373239 5373239 C T rs780108031 OR51B6 Stop gain R168X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 246754 chr1 48705008 48705008 C T SLC5A9 Synonymous SNV G492G 0 0.005 0 0 0 2 0 0 0 0 0 0 13.07 246755 chr5 140801897 140801897 C T rs200342957 PCDHGA11 Nonsynonymous SNV A368V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 246756 chr17 10267836 10267836 G A rs34042358 MYH13 Synonymous SNV D4D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 246757 chr1 53387316 53387316 G - rs772844017 ECHDC2 W11Gfs*36 0.001 0.003 0 0 1 1 0 0 0 0 0 0 246758 chr21 45745926 45745926 G T PFKL Nonsynonymous SNV R691L 0 0 0.007 0 0 0 0 2 0 0 0 0 19.28 246759 chr19 44932929 44932929 C T rs202091917 ZNF229 Nonsynonymous SNV R670Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 246760 chr11 120827602 120827602 T C rs778108247 GRIK4 Nonsynonymous SNV M605T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 246761 chr17 15983343 15983343 G T rs61753151 NCOR1 Synonymous SNV R1162R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 246762 chr21 47551986 47551986 G A rs146420786 COL6A2 Synonymous SNV A860A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.408 246763 chr11 120852871 120852871 G A rs377052814 GRIK4 Nonsynonymous SNV V818M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 246764 chr15 37002077 37002077 C T C15orf41 Nonsynonymous SNV H174Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 246765 chr17 17039568 17039573 CAGCAG - MPRIP S220_S221del 0.001 0 0 0 1 0 0 0 0 0 0 0 246766 chr17 17069139 17069139 C T rs201843718 MPRIP Nonsynonymous SNV R1444C 0.001 0 0 0 1 0 0 0 0 0 0 0 22 246767 chr17 17179452 17179452 T C COPS3 Nonsynonymous SNV I8V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 246768 chr17 17207065 17207065 C T rs769657400 NT5M Synonymous SNV I67I 0.001 0 0 0 1 0 0 0 0 0 0 0 21 246769 chr11 124747880 124747880 G T rs747584997 ROBO3 Nonsynonymous SNV A61S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.294 246770 chr11 124747881 124747881 C T rs754506440 ROBO3 Nonsynonymous SNV A61V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 246771 chr19 47575346 47575346 A G ZC3H4 Nonsynonymous SNV M612T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 246772 chr15 49429629 49429629 A G COPS2 Synonymous SNV D133D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.513 246773 chr11 8662007 8662007 C T rs183065153 TRIM66 Nonsynonymous SNV E494K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 246774 chr12 369000 369000 A - rs564810144 SLC6A13 V74Cfs*32 0.001 0 0.003 0 1 0 0 1 0 0 0 0 246775 chr22 29521313 29521313 C T rs753289945 KREMEN1 Synonymous SNV Y180Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.479 246776 chr11 18955611 18955611 A G MRGPRX1 Nonsynonymous SNV W241R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.54 246777 chr17 26941161 26941161 G A rs199620526 RSKR Nonsynonymous SNV R7W 0.001 0 0 0 1 0 0 0 0 0 0 0 30 246778 chr12 1995202 1995202 T G rs377754588 CACNA2D4 Nonsynonymous SNV N333H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 246779 chr19 49377749 49377749 C T rs147687948 PPP1R15A Nonsynonymous SNV A420V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.566 246780 chr22 31799127 31799127 C T rs549007416 DRG1 Synonymous SNV A93A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 246781 chr10 101982712 101982712 C A rs765869094 CHUK Nonsynonymous SNV A76S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 246782 chr11 17554843 17554843 T G rs914156135 USH1C Synonymous SNV A21A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.216 246783 chr22 37414608 37414608 C A rs778959201 TST Nonsynonymous SNV A56S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 246784 chr12 6861185 6861185 C T rs146304480 MLF2 Nonsynonymous SNV R29H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 246785 chr22 38121850 38121850 A G rs549764410 TRIOBP Nonsynonymous SNV H1096R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 246786 chr1 33333953 33333953 C T rs376090198 FNDC5 Nonsynonymous SNV V83M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29 246787 chr11 293829 293829 G A rs149481543 PGGHG 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 246788 chr10 105038015 105038015 C G rs377090897 INA Synonymous SNV A349A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.21 246789 chr1 35250961 35250961 G A rs61734064 GJB3 Nonsynonymous SNV V200I 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 11.22 246790 chr17 36666619 36666619 G A rs761606970 ARHGAP23 Nonsynonymous SNV G1296E 0.003 0 0 0 3 0 0 0 0 0 0 0 4.905 246791 chr22 40816952 40816952 G A MRTFA Synonymous SNV A260A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 246792 chr22 40816953 40816953 G A MRTFA Nonsynonymous SNV A260V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 246793 chr1 36564736 36564736 C A rs370355081 COL8A2 Synonymous SNV G117G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.635 246794 chr12 9231867 9231867 C T rs202210880 A2M Nonsynonymous SNV R881Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.191 246795 chr1 36643685 36643685 C A rs12563354 MAP7D1 Nonsynonymous SNV R494S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 246796 chr1 36643783 36643783 C T rs12563364 MAP7D1 Synonymous SNV P526P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.68 246797 chr17 38552666 38552666 C G rs183766786 TOP2A Nonsynonymous SNV G1197R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 21.7 246798 chr10 115366040 115366040 C T rs372123235 NRAP Nonsynonymous SNV R1199H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 246799 chr11 32632809 32632809 T C CCDC73 Nonsynonymous SNV T967A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.576 246800 chr12 10168082 10168082 C T rs925474725 LOC102724020 0.001 0 0 0 1 0 0 0 0 0 0 0 6.819 246801 chr1 39916836 39916836 G A rs768651809 MACF1 Nonsynonymous SNV V4732M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 246802 chr22 46402581 46402581 G A rs139371287 LOC730668 0 0 0.003 0 0 0 0 1 0 0 0 0 5.618 246803 chr1 41483301 41483301 G T SLFNL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.7 246804 chr17 39394501 39394501 C T rs1001119976 KRTAP9-8 Synonymous SNV C66C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.953 246805 chr22 50685131 50685131 C T rs577972478 HDAC10 Synonymous SNV R496R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 246806 chr20 30142613 30142613 T C rs781179178 HM13 Synonymous SNV L263L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.125 246807 chr12 21796938 21796938 A G LDHB Nonsynonymous SNV F118L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 246808 chr1 55223536 55223536 C T rs141040125 PARS2 Synonymous SNV V433V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 8.929 246809 chr1 55251302 55251302 T C rs147835207 TTC22 Nonsynonymous SNV M346V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.444 246810 chr10 134699337 134699337 G A rs367821376 CFAP46 Nonsynonymous SNV T1144M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.6 246811 chr12 32900216 32900216 T C rs148729348 YARS2 Synonymous SNV Q452Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 1.447 246812 chr17 42475869 42475869 C G rs201027635 GPATCH8 Nonsynonymous SNV Q1114H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 246813 chr2 113343886 113343886 C T rs79064914 CHCHD5 Nonsynonymous SNV R47C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 246814 chr17 42982208 42982208 G T rs369506071 FAM187A Synonymous SNV L337L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.366 246815 chr15 91523501 91523501 T G PRC1 Nonsynonymous SNV Q273P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 246816 chr12 46756804 46756804 T C SLC38A2 Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.613 246817 chr12 47629098 47629098 C T rs754847732 PCED1B Synonymous SNV S84S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 246818 chr19 56180944 56180944 G C rs762579830 U2AF2 Nonsynonymous SNV E389D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.186 246819 chr12 48596813 48596813 A C rs1024630795 OR10AD1 Nonsynonymous SNV V88G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 246820 chr5 78532684 78532684 G A rs1052279148 JMY Nonsynonymous SNV G71S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.142 246821 chr2 128382990 128382990 C T rs753901812 MYO7B Synonymous SNV L1339L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 246822 chr12 50136024 50136024 G C TMBIM6 Synonymous SNV R35R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.256 246823 chr5 80655779 80655779 G A rs780095623 ACOT12 Stop gain R147X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 246824 chr12 51384728 51384728 G A rs139057918 SLC11A2 Synonymous SNV G471G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 246825 chr1 7887404 7887404 C T rs35733104 PER3 Synonymous SNV Y805Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.118 246826 chr2 141457962 141457962 C T rs34694228 LRP1B Nonsynonymous SNV R2219H 0.002 0 0.01 0 2 0 0 3 0 0 0 0 22.3 246827 chr1 8418541 8418541 C T rs200525338 RERE Nonsynonymous SNV A798T 0.002 0 0 0 2 0 0 0 0 0 0 0 26 246828 chr17 56356983 56356983 T A rs146782684 MPO Nonsynonymous SNV N150I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.697 246829 chr12 53699992 53699992 A G rs141758687 C12orf10 Nonsynonymous SNV K218R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 246830 chr2 165424847 165424847 G A GRB14 Nonsynonymous SNV T14M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 246831 chr2 165772432 165772432 C T rs144572480 SLC38A11 Synonymous SNV A101A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 246832 chr2 166872146 166872146 G C rs121918799 SCN1A Nonsynonymous SNV T1174S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.43 246833 chr6 116938300 116938300 A G rs963891526 RSPH4A Nonsynonymous SNV K172E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 246834 chr12 55820578 55820578 T C rs752732475 OR6C76 Synonymous SNV L181L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.654 246835 chr17 63049698 63049698 T C rs41300618 GNA13 Synonymous SNV Q49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.937 246836 chr2 171627245 171627245 C T rs529003810 ERICH2 Synonymous SNV T18T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 246837 chr2 173830306 173830306 A C RAPGEF4 Nonsynonymous SNV T19P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 246838 chr20 61869311 61869311 C T rs565044697 BIRC7 Nonsynonymous SNV R136C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.95 246839 chr19 7680136 7680136 G C rs377310461 CAMSAP3 Nonsynonymous SNV R913P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.5 246840 chr12 58197124 58197124 T A rs778889853 AVIL Nonsynonymous SNV N623I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 246841 chr2 179447340 179447340 A C rs375373946 TTN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.115 246842 chr16 28844526 28844526 C T rs752711665 ATXN2L Synonymous SNV S608S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.5 246843 chr20 62372824 62372824 T A rs150827036 SLC2A4RG Nonsynonymous SNV F128Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.068 246844 chr20 1234933 1234933 G A RAD21L1 Nonsynonymous SNV M501I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 246845 chr21 33740772 33740772 C T rs375489185 URB1 Synonymous SNV T379T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 246846 chr21 34011249 34011249 C T rs778062243 SYNJ1 Nonsynonymous SNV S1248N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.96 246847 chr17 73727915 73727915 G A ITGB4 Nonsynonymous SNV R413Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 246848 chr2 202589099 202589099 G A rs574456456 ALS2 Nonsynonymous SNV T1144M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 246849 chr16 48174795 48174795 T C ABCC12 Nonsynonymous SNV R154G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.069 246850 chr17 73956375 73956375 C T rs762892394 ACOX1 Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 246851 chr12 104337632 104337632 G A rs142832694 HSP90B1 Synonymous SNV T669T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.263 246852 chr12 107914390 107914390 G A rs369384423 BTBD11 Nonsynonymous SNV R421H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246853 chr19 9088716 9088716 C T MUC16 Nonsynonymous SNV M1033I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.041 246854 chr12 108986044 108986044 G A rs187778697 TMEM119 Nonsynonymous SNV A39V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.722 246855 chr12 109959023 109959023 A G rs745711632 UBE3B Nonsynonymous SNV N716S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 246856 chr2 215876783 215876783 T C rs147218173 ABCA12 Nonsynonymous SNV N360S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 6.26 246857 chr2 215914365 215914365 G A ABCA12 Synonymous SNV N226N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.289 246858 chr2 217001871 217001871 A G rs115029702 XRCC5 Nonsynonymous SNV I392V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.537 246859 chr2 219888980 219888980 T C rs138825313 CFAP65 Synonymous SNV L784L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 246860 chr21 46945801 46945801 G A rs746105885 SLC19A1 Nonsynonymous SNV T368I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 246861 chr2 227731980 227731980 C G rs370274083 RHBDD1 Nonsynonymous SNV P171R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 246862 chr20 47249156 47249156 A G rs200234810 PREX1 Nonsynonymous SNV I1430T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 246863 chr11 12951868 12951868 T C rs747712383 TEAD1 Synonymous SNV L388L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.984 246864 chr12 132510291 132510291 C A EP400 Synonymous SNV G1652G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 246865 chr2 241468721 241468721 G A rs151321234 ANKMY1 Nonsynonymous SNV T140M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 246866 chr16 84270360 84270360 G A KCNG4 Synonymous SNV P244P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.797 246867 chr2 242572610 242572610 C T THAP4 Nonsynonymous SNV S321N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 246868 chr13 25881964 25881964 A G rs770583254 NUP58 Nonsynonymous SNV N43S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 246869 chr13 30351374 30351374 G A rs150248814 UBL3 Synonymous SNV S18S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 246870 chr11 7669736 7669736 T A rs149157151 PPFIBP2 Nonsynonymous SNV L446I 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.3 246871 chr16 88600727 88600727 C A rs551773012 ZFPM1 Synonymous SNV P787P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 246872 chr2 27359968 27359968 T C rs371665403 PRR30 Synonymous SNV S410S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 246873 chr20 61939985 61939985 C T rs773823579 COL20A1 Synonymous SNV D289D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 246874 chr2 29375618 29375618 T A CLIP4 Synonymous SNV P363P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.454 246875 chr18 3729160 3729162 GGT - rs560690735 DLGAP1 T220del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 246876 chr13 40273748 40273748 T C COG6 Nonsynonymous SNV M426T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 246877 chr13 42877472 42877472 T C rs576622909 AKAP11 Synonymous SNV Y1530Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 246878 chr13 42891722 42891722 G A rs767009021 AKAP11 Synonymous SNV T1821T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 246879 chr20 62493515 62493515 G A rs768773948 ABHD16B Nonsynonymous SNV G208S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 246880 chr2 38958946 38958946 G A rs545817619 GALM Synonymous SNV T282T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 246881 chr17 10359152 10359152 G A MYH4 Nonsynonymous SNV P679S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 246882 chr11 113803087 113803087 A G rs150009887 HTR3B Nonsynonymous SNV I138V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.58 246883 chr18 5397363 5397363 C T rs374267593 EPB41L3 Synonymous SNV P623P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 246884 chr11 116629879 116629879 G A rs767550000 BUD13 Nonsynonymous SNV S290F 0 0.003 0 0 0 1 0 0 0 0 0 0 34 246885 chr2 54087009 54087009 G - GPR75-ASB3 G20Dfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 246886 chr13 73636402 73636402 C T KLF5 Nonsynonymous SNV P131L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 246887 chr1 158436017 158436017 C A OR10K1 Synonymous SNV I222I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.75 246888 chr13 77653016 77653016 A G rs183420850 MYCBP2 Synonymous SNV V3809V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 246889 chr21 34442780 34442780 G C OLIG1 Synonymous SNV P76P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 246890 chr11 120350914 120350914 C T rs200873841 ARHGEF12 Nonsynonymous SNV R1319W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 246891 chr2 61597642 61597642 T C rs144284268 USP34 Synonymous SNV L383L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.419 246892 chr2 61726050 61726050 - A XPO1 0 0 0.003 0 0 0 0 1 0 0 0 0 246893 chr2 62067327 62067327 T C rs914743509 FAM161A Nonsynonymous SNV K271R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.986 246894 chr13 99134525 99134525 T C rs767655113 STK24 Synonymous SNV L108L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.276 246895 chr2 73519462 73519462 A T rs968610071 EGR4 Nonsynonymous SNV L195Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 246896 chr2 74687415 74687415 C G rs151042212 WBP1 Synonymous SNV P139P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 246897 chr13 111293895 111293895 - T rs575601185 CARS2 Frameshift insertion S562Ifs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 246898 chr2 74718459 74718459 C T rs199970023 TTC31 Nonsynonymous SNV S214F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 246899 chr2 86734675 86734675 G A CHMP3, RNF103-CHMP3 Synonymous SNV S84S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 246900 chr17 3030582 3030582 C G rs9892491 OR1G1 Nonsynonymous SNV Q88H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.85 246901 chr3 10044858 10044858 T C rs143996683 EMC3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.778 246902 chr17 3181677 3181677 G C rs73977611 OR3A2 Nonsynonymous SNV H185D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 246903 chr14 21511570 21511570 A C rs34429026 RNASE7 Nonsynonymous SNV K140T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 246904 chr12 123444565 123444565 G A rs202243167 ABCB9 Nonsynonymous SNV A73V 0 0 0 2 0 0 0.005 0 0 0 0 0 14.7 246905 chr17 3301246 3301246 G A rs11078447 OR1E1 Synonymous SNV T153T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.889 246906 chr2 10192393 10192393 A G rs767344976 KLF11 Nonsynonymous SNV K416R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 246907 chr14 22133410 22133410 G A rs187385131 OR4E2 Synonymous SNV T38T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 246908 chr19 1233553 1233553 G T rs61741979 CBARP Nonsynonymous SNV A284E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 246909 chr17 3658436 3658436 C T rs369774751 ITGAE Synonymous SNV A453A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 246910 chr3 119121029 119121029 C T rs200233879 ARHGAP31 Nonsynonymous SNV P477L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 246911 chr11 62554609 62554609 G C TAF6L Synonymous SNV G570G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.542 246912 chr2 120003463 120003463 G A rs181208641 STEAP3 Nonsynonymous SNV E131K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 246913 chr14 35492120 35492120 A G rs149533917 SRP54 Synonymous SNV L338L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.399 246914 chr14 38256773 38256773 T C TTC6 Synonymous SNV L1139L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 246915 chr3 125266417 125266417 C T OSBPL11 Synonymous SNV E558E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 246916 chr12 21445222 21445222 C G SLCO1A2 Nonsynonymous SNV V496L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.3 246917 chr14 53417221 53417221 G T rs139423085 FERMT2 Synonymous SNV V22V 0.001 0 0 0 1 0 0 0 0 0 0 0 11 246918 chr2 136594253 136594253 C T rs141337403 LCT Nonsynonymous SNV G163R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 246919 chr2 136873428 136873428 T C CXCR4 Nonsynonymous SNV M28V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 246920 chr3 129112566 129112566 C T rs955235576 RPL32P3 0 0 0.003 0 0 0 0 1 0 0 0 0 0.581 246921 chr17 4084577 4084577 C T rs1026640720 ANKFY1 Nonsynonymous SNV E780K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 246922 chr19 1754183 1754183 G A rs751694828 ONECUT3 Synonymous SNV E174E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 246923 chr14 59113376 59113376 T C rs200977826 DACT1 Nonsynonymous SNV W642R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.5 246924 chr12 27834595 27834595 C T rs201195756 PPFIBP1 Nonsynonymous SNV T524M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 246925 chr12 27869353 27869353 G A MRPS35 Nonsynonymous SNV V95M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 246926 chr7 127894804 127894804 C T rs200819049 LEP Synonymous SNV S164S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.6 246927 chr19 18368181 18368181 T A rs117511354 IQCN Nonsynonymous SNV T1305S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.26 246928 chr17 4462304 4462304 G A rs201922735 GGT6 Nonsynonymous SNV T131M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.109 246929 chr19 19764640 19764640 C T ATP13A1 Nonsynonymous SNV V685I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 246930 chr19 20003160 20003160 C A rs749481807 ZNF253 Stop gain Y292X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 246931 chr11 71949118 71949118 G T rs139343461 INPPL1 Synonymous SNV G1195G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 5.99 246932 chr3 148458807 148458807 G A rs138997091 AGTR1 Synonymous SNV S30S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.39 246933 chr14 74706514 74706514 C T VSX2 Nonsynonymous SNV L84F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 246934 chr14 75388208 75388208 C T rs202018004 RPS6KL1 Nonsynonymous SNV G13S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 246935 chr19 2877871 2877871 C T rs372439058 ZNF556 Synonymous SNV H304H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 246936 chr12 50232461 50232461 T C rs374623398 BCDIN3D Nonsynonymous SNV H191R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.888 246937 chr14 76156594 76156594 C T rs200596181 TTLL5 Nonsynonymous SNV T144I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.84 246938 chr3 167182992 167182992 A G rs759219890 SERPINI2 0 0 0.003 0 0 0 0 1 0 0 0 0 24 246939 chr12 51845945 51845945 C T rs143451528 SLC4A8 Synonymous SNV T105T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.82 246940 chr11 88300817 88300817 C T rs55933882 GRM5 Synonymous SNV K678K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.411 246941 chr17 53042198 53042198 C T rs750029639 COX11 Nonsynonymous SNV G128R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 34 246942 chr19 34291422 34291422 C A rs149613370 KCTD15 Synonymous SNV T21T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 246943 chr14 91760648 91760648 G A rs201259963 CCDC88C Synonymous SNV L1327L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.97 246944 chr11 102662148 102662148 G C rs773483749 MMP1 Nonsynonymous SNV P305R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 246945 chr3 185766491 185766491 G A rs151057501 ETV5 Synonymous SNV P490P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.048 246946 chr14 94423192 94423192 C T rs532067660 ASB2 Synonymous SNV S29S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.916 246947 chr3 191093002 191093002 G A rs779067352 CCDC50 Synonymous SNV S200S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.78 246948 chr12 53553451 53553451 G C CSAD Nonsynonymous SNV R189G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 246949 chr19 3738974 3738974 G A TJP3 Synonymous SNV P491P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.506 246950 chr7 157202503 157202503 G A rs556999563 DNAJB6 Nonsynonymous SNV D121N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.67 246951 chr11 108382697 108382697 T C EXPH5 Synonymous SNV Q991Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 246952 chr17 68129029 68129029 C T rs143575404 KCNJ16 Synonymous SNV D302D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.971 246953 chr3 27161344 27161344 G C rs112591494 NEK10 Nonsynonymous SNV P392A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 246954 chr11 118896693 118896693 G A rs202209699 SLC37A4 Nonsynonymous SNV T323I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 246955 chr17 71410819 71410819 G A rs143251430 SDK2 Synonymous SNV S816S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.32 246956 chr14 105178851 105178851 C T rs62640005 INF2 Synonymous SNV S857S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.63 246957 chr14 105179902 105179902 G A rs148541427 INF2 Nonsynonymous SNV S1000N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.998 246958 chr12 58018721 58018721 C T rs146389619 SLC26A10 Nonsynonymous SNV R434C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 246959 chr12 58019519 58019519 C T rs145592443 SLC26A10 Synonymous SNV C561C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.436 246960 chr12 58130915 58130915 G T AGAP2 Nonsynonymous SNV S372Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 246961 chr12 58152049 58152049 C T rs781454877 MARCHF9 Synonymous SNV Y224Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.846 246962 chr14 105268511 105268511 G A rs73350336 ZBTB42 Nonsynonymous SNV R326Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.6 246963 chr3 37323710 37323710 C T rs748183916 GOLGA4 Nonsynonymous SNV R142W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 246964 chr17 7225063 7225063 C T rs374139545 NEURL4 Nonsynonymous SNV R970Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 246965 chr3 37396615 37396615 C T rs778162890 GOLGA4 Synonymous SNV T2215T 0 0 0.003 0 0 0 0 1 0 0 0 0 14 246966 chr14 105814900 105814900 A T PACS2 Nonsynonymous SNV I64F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 246967 chr12 7045895 7045915 CAGCAGCAGCAGCAGCAGCAG - ATN1 Q496_Q502del 0 0 0 2 0 0 0.005 0 0 0 0 0 246968 chr3 42730192 42730192 C T rs766839036 KLHL40 Synonymous SNV G468G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 246969 chr2 216211528 216211528 G A rs747849021 ATIC Nonsynonymous SNV R456H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 246970 chr15 40583523 40583523 C A rs754922658 PLCB2 Nonsynonymous SNV G923V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.004 246971 chr7 45011790 45011790 T G rs145240682 MYO1G Nonsynonymous SNV E218A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.392 246972 chr15 40920400 40920400 T G KNL1 Nonsynonymous SNV F1837V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 246973 chr3 48520600 48520600 G A rs188057779 SHISA5 Synonymous SNV N93N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.394 246974 chr3 48615914 48615914 G C rs143037856 COL7A1 Nonsynonymous SNV P1820R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 6.863 246975 chr15 42136771 42136771 G A rs41277690 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV V328I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.539 246976 chr3 48699586 48699586 C G CELSR3 Nonsynonymous SNV G161A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 246977 chr12 102164274 102164274 T C rs750876420 GNPTAB Synonymous SNV P341P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 1.575 246978 chr3 50143100 50143100 G A rs374749250 RBM5 Synonymous SNV Q271Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 246979 chr15 42720256 42720256 G A rs766933029 ZNF106 Nonsynonymous SNV A815V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 246980 chr2 160732044 160732044 G A LY75, LY75-CD302 Nonsynonymous SNV P629S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 246981 chr3 50598392 50598392 C T rs142961797 C3orf18 Nonsynonymous SNV A122T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 246982 chr15 44166523 44166523 T C rs769686111 FRMD5 Nonsynonymous SNV S390G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 246983 chr3 52325089 52325089 G A rs151194709 GLYCTK Nonsynonymous SNV G164E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 246984 chr12 107974767 107974767 - T rs768494750 BTBD11 Frameshift insertion Y29Lfs*78 0 0.003 0.003 0 0 1 0 1 0 0 0 0 246985 chr3 52539722 52539722 C T STAB1 Synonymous SNV P540P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 246986 chr12 108923980 108923980 T C rs115707265 SART3 Synonymous SNV R618R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.206 246987 chr15 45884474 45884474 C T rs768978261 BLOC1S6 Nonsynonymous SNV T80I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 246988 chr15 48561944 48561944 C T rs772299383 SLC12A1 Synonymous SNV N795N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.961 246989 chr3 53326483 53326483 G A rs375827844 DCP1A Synonymous SNV P174P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.199 246990 chr15 51783863 51783863 C G DMXL2 Nonsynonymous SNV R986T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 246991 chr3 58118639 58118639 G A rs150445941 FLNB Nonsynonymous SNV D1499N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 246992 chr15 52877083 52877083 C T rs377630038 FAM214A Nonsynonymous SNV R986Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 246993 chr3 65415362 65415362 C G MAGI1 Nonsynonymous SNV R667T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 246994 chr2 175087768 175087768 A T rs200337544 OLA1 Nonsynonymous SNV H122Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 246995 chr2 176964805 176964805 C T HOXD12 Synonymous SNV D92D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 246996 chr2 178096529 178096529 C T rs34154613 NFE2L2 Nonsynonymous SNV V238M 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 10.72 246997 chr3 87289899 87289899 A G rs63750818 CHMP2B Nonsynonymous SNV I29V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.12 246998 chr19 48048381 48048381 C T ZNF541 Nonsynonymous SNV E469K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 246999 chr17 79826273 79826273 G A ARHGDIA Nonsynonymous SNV R328C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.457 247000 chr12 120785268 120785268 C T rs141481855 MSI1 Synonymous SNV A280A 0 0.005 0 0 0 2 0 0 0 0 0 0 14.68 247001 chr3 98072932 98072932 C T rs753235702 OR5K4 Nonsynonymous SNV P79S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 247002 chr17 80282636 80282636 G A rs969095167 SECTM1 Synonymous SNV S75S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.734 247003 chr19 49362814 49362814 T C PLEKHA4 Nonsynonymous SNV R202G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 247004 chr19 49477889 49477889 G A rs778728429 GYS1 Synonymous SNV A406A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.75 247005 chr19 49611286 49611291 GCGGGA - rs966533040 SNRNP70 E295_R296del 0.001 0 0 0 1 0 0 0 0 0 0 0 247006 chr17 8168670 8168670 C T rs144364753 PFAS Nonsynonymous SNV A782V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 247007 chr12 12871055 12871055 C T rs751288223 CDKN1B Synonymous SNV P94P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 11.54 247008 chr12 13062042 13062042 C T GPRC5A Stop gain Q287X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 247009 chr2 185803450 185803450 T C rs376180864 ZNF804A Synonymous SNV A1109A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 247010 chr19 50105097 50105097 C T rs368409811 PRR12 Synonymous SNV A1565A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 247011 chr1 3732062 3732062 G A rs757805931 CEP104 Synonymous SNV A894A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.922 247012 chr4 110409922 110409922 T C MIR576 0 0 0.003 0 0 0 0 1 0 0 0 0 9.366 247013 chr4 113505326 113505326 C T rs542798884 ZGRF1 Nonsynonymous SNV R1311H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 247014 chr19 50918847 50918847 G A POLD1 Nonsynonymous SNV R932K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 247015 chr2 190585451 190585451 A G rs978955847 ANKAR Nonsynonymous SNV Q858R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 247016 chr19 5111524 5111524 A C rs776061116 KDM4B Synonymous SNV L418L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.558 247017 chr15 81176568 81176568 A G CEMIP Nonsynonymous SNV N224D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.051 247018 chr4 119666133 119666133 T A rs375796795 SEC24D Nonsynonymous SNV D598V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 247019 chr13 20763380 20763380 T C rs2274083 GJB2 Nonsynonymous SNV E114G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.639 247020 chr2 200804833 200804833 - GAAGAA TYW5 S109_L110insSS 0.001 0 0 0 1 0 0 0 0 0 0 0 247021 chr2 203948208 203948208 G A rs529778977 NBEAL1 Synonymous SNV Q317Q 0.003 0 0 0 3 0 0 0 0 0 0 0 7.568 247022 chr18 33726225 33726225 - A ELP2 Frameshift insertion V267Sfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 247023 chr4 153457560 153457560 C T rs557761468 MIR4453HG 0 0 0.003 0 0 0 0 1 0 0 0 0 4.167 247024 chr1 48694606 48694609 GTAG - rs753979488 SLC5A9 G108Afs*33 0.003 0.003 0 0 4 1 0 0 0 0 0 0 247025 chr15 89876899 89876899 G A rs587781116 POLG Synonymous SNV S29S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.82 247026 chr1 52276000 52276000 T C rs41293259 NRDC Nonsynonymous SNV K619R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 13.8 247027 chr2 210559793 210559793 A G rs377222605 MAP2 Nonsynonymous SNV S963G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.298 247028 chr15 90320140 90320140 - GGGCAA MESP2 G205_R206insQG 0.001 0 0 0 1 0 0 0 0 0 0 0 247029 chr15 90320149 90320149 - CAAGGA MESP2 G205_R206insQG 0.001 0 0 0 1 0 0 0 0 0 0 0 247030 chr13 37596406 37596406 G A SUPT20H Nonsynonymous SNV T547I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.3 247031 chr8 124382170 124382170 A T rs774600107 ATAD2 Nonsynonymous SNV D274E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.201 247032 chr4 158091809 158091809 C A rs750759422 GLRB Nonsynonymous SNV L475I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 247033 chr4 15937654 15937654 G - rs538242492 FGFBP1 P201Qfs*28 0.001 0 0.003 0 1 0 0 1 0 0 0 0 247034 chr15 91433110 91433110 A G rs56296062 FES Nonsynonymous SNV M265V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 247035 chr12 51686049 51686049 G A rs143690157 BIN2 Nonsynonymous SNV P227S 0.003 0 0 0 3 0 0 0 0 0 0 0 5.656 247036 chr19 54664075 54664075 C T rs140744667 TMC4 Nonsynonymous SNV V703M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 247037 chr13 53418711 53418711 G A rs1046627341 PCDH8 Nonsynonymous SNV A1066V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 247038 chr13 76414584 76414584 C T rs372147235 LMO7 Nonsynonymous SNV R852W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 247039 chr16 597208 597208 G A rs763502904 CAPN15 Nonsynonymous SNV E124K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 247040 chr16 717551 717551 C T rs370037118 WDR90 Nonsynonymous SNV R1737C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 247041 chr16 1258031 1258031 T G CACNA1H Nonsynonymous SNV L1058R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 247042 chr16 1399480 1399480 C T rs201659974 TSR3 Synonymous SNV P299P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 247043 chr19 56459329 56459329 A C NLRP8 Nonsynonymous SNV S21R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.898 247044 chr18 77896389 77896389 C A ADNP2 Synonymous SNV V1031V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.427 247045 chr18 8387081 8387081 A G PTPRM Synonymous SNV G1339G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 247046 chr16 2237045 2237045 C T rs201639603 CASKIN1 Synonymous SNV A288A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.21 247047 chr19 56719987 56719987 C T rs182258045 ZSCAN5C Synonymous SNV D303D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.914 247048 chr19 56719991 56719991 A T rs575645142 ZSCAN5C Nonsynonymous SNV T305S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 247049 chr16 2522438 2522457 GCCACCGACCTCCAGGTGGG - rs753982931 NTN3 A246Rfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 247050 chr16 2522462 2522469 CGCTGCAA - rs762291621 NTN3 R254Vfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 247051 chr16 2522473 2522482 CAATGGACAT - rs765778027 NTN3 C257Wfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 247052 chr16 2522485 2522514 CTCACGGTGCCTGCTGGACACACAGGGCCA - rs758821300 NTN3 S262_H271del 0.001 0 0 0 1 0 0 0 0 0 0 0 247053 chr14 21769299 21769299 C T RPGRIP1 Synonymous SNV V131V 0 0 0 2 0 0 0.005 0 0 0 0 0 15.53 247054 chr16 3293438 3293438 C T rs104895092 MEFV Synonymous SNV S683S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.188 247055 chr19 58268299 58268299 C T rs148155310 ZNF776 Synonymous SNV C103C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.451 247056 chr1 902168 902168 C T PLEKHN1 Synonymous SNV H56H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.952 247057 chr2 240036889 240036889 C A rs753927060 HDAC4 Nonsynonymous SNV G546W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 247058 chr4 57976322 57976322 C G rs1026254259 IGFBP7 Nonsynonymous SNV G66R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 247059 chr16 18861689 18861689 A C SMG1 Nonsynonymous SNV L1718R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 247060 chr4 62936544 62936544 G T ADGRL3 Nonsynonymous SNV G1416V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 247061 chr4 6612816 6612816 A G rs371182314 MAN2B2 Nonsynonymous SNV M741V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 247062 chr4 68586197 68586197 C G rs139445314 UBA6-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.453 247063 chr19 827904 827904 G C AZU1 Nonsynonymous SNV G20R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.08 247064 chr14 24030824 24030824 - T rs774307981 AP1G2 Frameshift insertion M204Nfs*12 0 0.003 0.003 0 0 1 0 1 0 0 0 0 247065 chr2 27564869 27564869 T C rs149929981 GTF3C2 Synonymous SNV S267S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.037 247066 chr19 8650477 8650477 C A rs781952434 ADAMTS10 Nonsynonymous SNV V397L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 247067 chr2 30987127 30987127 A G CAPN13 Synonymous SNV D190D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.141 247068 chr2 33811636 33811636 C T rs377389251 FAM98A Nonsynonymous SNV R43K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 247069 chr16 31122035 31122035 T C rs554631884 BCKDK Synonymous SNV T223T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 1.534 247070 chr16 46958348 46958348 G A rs115072332 GPT2 Synonymous SNV T320T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.18 247071 chr4 8442685 8442685 C T TRMT44 Nonsynonymous SNV R46C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 247072 chr19 9086394 9086394 T C rs376237250 MUC16 Synonymous SNV G1807G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 247073 chr19 9237217 9237217 T C rs753677932 OR7G3 Nonsynonymous SNV N137S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 247074 chr19 9271095 9271095 C T ZNF317 Synonymous SNV A226A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 247075 chr19 9325273 9325273 T C OR7D4 Nonsynonymous SNV M81V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.563 247076 chr2 54365822 54365822 A G rs772087694 ACYP2 Nonsynonymous SNV K17R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.59 247077 chr16 57832129 57832129 G A KIFC3 Synonymous SNV N9N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 247078 chr1 103387125 103387125 C G COL11A1 Synonymous SNV G1103G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.144 247079 chr1 109268576 109268576 A G rs761735302 FNDC7 Nonsynonymous SNV Y354C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 247080 chr16 66527167 66527167 G - BEAN1 V152Ffs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 247081 chr16 66974211 66974211 G C CES2 Synonymous SNV V170V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.098 247082 chr19 19245598 19245598 G C TMEM161A Nonsynonymous SNV N34K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 247083 chr12 132505688 132505688 G A rs761352121 EP400 Synonymous SNV S1504S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.42 247084 chr5 112437465 112437465 G A rs780409318 MCC Nonsynonymous SNV R267W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 247085 chr5 11346514 11346514 G A rs201675268 CTNND2 Nonsynonymous SNV P196L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 247086 chr3 149216525 149216525 G A rs913245499 TM4SF4 Nonsynonymous SNV E140K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 247087 chr13 25745286 25745286 C G rs200352589 AMER2 Nonsynonymous SNV A158P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.6 247088 chr13 26138140 26138140 A C rs752444499 ATP8A2 Synonymous SNV R442R 0.003 0 0 0 3 0 0 0 0 0 0 0 2.343 247089 chr5 134223615 134223615 G T TXNDC15 Nonsynonymous SNV V44F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 247090 chr16 80718441 80718441 C T CDYL2 Nonsynonymous SNV G204R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 247091 chr5 134364723 134364723 G T rs769968771 PITX1 Nonsynonymous SNV P231T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 247092 chr9 104071653 104071653 T C rs139319180 PLPPR1 Synonymous SNV C182C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.526 247093 chr2 85981891 85981891 G A rs763289073 ATOH8 Synonymous SNV S193S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 247094 chr2 88387564 88387564 C G SMYD1 Nonsynonymous SNV S166R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 247095 chr5 136476288 136476288 G T rs199506446 SPOCK1 Nonsynonymous SNV R110S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.5 247096 chr20 49411584 49411584 A G BCAS4 Synonymous SNV P18P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.242 247097 chr20 51871774 51871774 C T rs746587508 TSHZ2 Nonsynonymous SNV H590Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.068 247098 chr16 82032745 82032745 G T rs200423929 SDR42E1 Nonsynonymous SNV L385M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 247099 chr13 33704299 33704299 G A rs752378877 STARD13 Nonsynonymous SNV P164L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.69 247100 chr19 3525882 3525882 G A rs202131921 FZR1 Nonsynonymous SNV R29Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 247101 chr15 23811411 23811411 C T rs200402711 MKRN3 Nonsynonymous SNV P161L 0 0 0 3 0 0 0.008 0 0 0 0 0 14.4 247102 chr16 85100797 85100797 C T rs145833831 KIAA0513 Synonymous SNV D40D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.302 247103 chr3 183778079 183778079 G A rs374888245 HTR3C Nonsynonymous SNV R428H 0 0.005 0 0 0 2 0 0 0 0 0 0 22.9 247104 chr16 87348666 87348666 G C C16orf95 Nonsynonymous SNV Q81E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 247105 chr14 94568276 94568276 G A rs200925095 IFI27L1 Nonsynonymous SNV G60S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 247106 chr19 36605287 36605287 C T POLR2I Nonsynonymous SNV A48T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 247107 chr3 188327469 188327469 A C LPP Nonsynonymous SNV Y317S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.67 247108 chr16 89348539 89348539 C A ANKRD11 Nonsynonymous SNV D1471Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25 247109 chr14 102973699 102973699 G A rs751232389 ANKRD9 Synonymous SNV F176F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.164 247110 chr5 153406881 153406881 G A rs189017746 FAM114A2 Nonsynonymous SNV A145V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 247111 chr19 39340472 39340480 GCCACCGCC - rs766698939 HNRNPL G43_G45del 0 0 0 1 0 0 0.003 0 0 0 0 0 247112 chr5 156590186 156590186 C T rs761435603 FAM71B Nonsynonymous SNV A364T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 247113 chr1 155300335 155300335 T C rs41264224 RUSC1 Synonymous SNV P419P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.134 247114 chr5 16682066 16682066 G A rs377512385 MYO10 Nonsynonymous SNV T1368M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 247115 chr19 41089532 41089532 G T rs114936133 SHKBP1 Nonsynonymous SNV M358I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.7 247116 chr15 25969083 25969083 G A rs138124007 ATP10A Synonymous SNV V355V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.56 247117 chr5 168199857 168199857 C T rs746573663 SLIT3 Nonsynonymous SNV R463H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 247118 chr1 15668286 15668286 C T rs546776394 FHAD1 Nonsynonymous SNV A654V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 247119 chr19 42213820 42213820 A G rs755587636 CEACAM5 Nonsynonymous SNV S96G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.25 247120 chr5 178413980 178413980 G A rs151126110 GRM6 Synonymous SNV S453S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.868 247121 chr21 43162110 43162110 C T rs55645753 RIPK4 Nonsynonymous SNV V415M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.497 247122 chr21 43710303 43710303 G C rs61735842 ABCG1 Synonymous SNV A468A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 5.367 247123 chr1 160260414 160260414 G A rs376400505 COPA Synonymous SNV D1170D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.29 247124 chr1 160261716 160261716 G C rs369330981 COPA Nonsynonymous SNV Q1060E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.38 247125 chr1 160523851 160523851 C G rs745636238 CD84 Nonsynonymous SNV E44D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.964 247126 chr17 7483627 7483627 A G rs368119336 CD68 Synonymous SNV T156T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.52 247127 chr1 168250417 168250417 G A rs780523079 TBX19 Nonsynonymous SNV G30E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 247128 chr14 24656890 24656890 G A rs61752845 IPO4 Nonsynonymous SNV H131Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.77 247129 chr15 45391637 45391637 T G DUOX2 Synonymous SNV S1153S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.658 247130 chr15 45401090 45401090 C T rs530736554 DUOX2 Nonsynonymous SNV R432H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 247131 chr1 171605235 171605235 C T rs572512491 MYOC Nonsynonymous SNV V449I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.285 247132 chr5 52096263 52096263 A G rs542925164 PELO Nonsynonymous SNV N12S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.667 247133 chr3 50365492 50365492 G A rs782806332 TUSC2 Synonymous SNV P13P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.15 247134 chr1 17312596 17312596 T A rs41273151 ATP13A2 Nonsynonymous SNV T1121S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 17.36 247135 chr15 52539699 52539699 T C rs145997599 MYO5C Nonsynonymous SNV I613V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.227 247136 chr5 55396075 55396075 G A rs139797482 ANKRD55 Stop gain R594X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 247137 chr17 11835402 11835402 G A rs147426771 DNAH9 Synonymous SNV A371A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.472 247138 chr15 56923819 56923821 ACT - rs758560764 ZNF280D S926del 0 0.003 0 0 0 1 0 0 0 0 0 0 247139 chr9 34269318 34269318 A T KIF24 Nonsynonymous SNV D460E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 247140 chr15 58957371 58957371 C G rs61751103 ADAM10 Nonsynonymous SNV Q170H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 risk factor 19.17 247141 chr3 53265494 53265494 A T TKT Nonsynonymous SNV I274N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 247142 chr3 172165495 172165495 T A rs199588904 GHSR Nonsynonymous SNV R237W 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 33 247143 chr5 70810935 70810935 A G rs751555636 BDP1 Synonymous SNV S1545S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.72 247144 chr17 18156870 18156870 G A FLII Synonymous SNV L227L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.42 247145 chr17 18181530 18181530 G A rs771787929 TOP3A Synonymous SNV P667P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.52 247146 chr19 49368798 49368798 T A rs201435984 PLEKHA4 Nonsynonymous SNV N52Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 247147 chr3 182987703 182987703 T C rs761160843 B3GNT5 Synonymous SNV I39I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.118 247148 chr15 65218337 65218337 C A rs61740365 ANKDD1A Nonsynonymous SNV L147M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 247149 chr15 65807994 65807994 C T DPP8 Nonsynonymous SNV G13R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 247150 chr19 50354313 50354313 A C rs771978575 PTOV1 Nonsynonymous SNV H59P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.264 247151 chr15 90785078 90785079 TG - rs780501406 GDPGP1 W314Gfs*12 0 0 0 2 0 0 0.005 0 0 0 0 0 247152 chr3 88039974 88039974 G T rs138692634 HTR1F Synonymous SNV L25L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.552 247153 chr1 186034533 186034533 G C rs139899015 HMCN1 Nonsynonymous SNV K2559N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 247154 chr17 27421999 27422013 CTTCTCCCGCTGCAG - rs764790285 MYO18A L1484_K1488del 0.001 0 0 0 1 0 0 0 0 0 0 0 247155 chr5 90087137 90087137 G T ADGRV1 Nonsynonymous SNV V4831L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 247156 chr15 73848702 73848702 C T rs201063024 REC114 Synonymous SNV D174D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.926 247157 chr14 70530637 70530637 A G rs140208080 SLC8A3 Synonymous SNV I598I 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19.05 247158 chr22 32894440 32894440 C T rs121918304 FBXO7 Stop gain R419X 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 47 247159 chr17 33464633 33464633 C T NLE1 Synonymous SNV G188G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 247160 chr9 95012147 95012147 A G rs757465898 IARS1 Nonsynonymous SNV I842T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28 247161 chr16 12009496 12009496 G C GSPT1 Nonsynonymous SNV P28A 0 0 0 1 0 0 0.003 0 0 0 0 0 23 247162 chr6 108246131 108246131 A G rs140251976 SEC63 Nonsynonymous SNV I77T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.09 247163 chr1 200550341 200550341 T C KIF14 Nonsynonymous SNV Y617C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 247164 chr17 36482977 36482977 T C rs181844178 GPR179 Nonsynonymous SNV K2159E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.802 247165 chr15 80215930 80215930 - AGGCCCCCGCATATAGCAGGGCC ST20, ST20-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 247166 chr6 110087949 110087949 A G rs749672655 FIG4 Nonsynonymous SNV Y534C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 247167 chr17 36887606 36887606 G A rs563305407 CISD3 Nonsynonymous SNV V40M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 247168 chr15 81624792 81624792 C G TMC3 Nonsynonymous SNV D1091H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 247169 chr17 38133172 38133172 C T rs752835991 GSDMA Nonsynonymous SNV T400M 0.001 0 0 0 1 0 0 0 0 0 0 0 27 247170 chr6 12122946 12122946 A T rs900272063 HIVEP1 Nonsynonymous SNV N973I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 247171 chr1 203141169 203141169 C T rs372208753 MYBPH 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 247172 chr1 203317204 203317204 G A rs779073728 FMOD Synonymous SNV Y65Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 247173 chrX 12939554 12939554 G T rs369919085 TLR8 Nonsynonymous SNV V799L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.251 247174 chr22 43606136 43606136 G A SCUBE1 Nonsynonymous SNV P832S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 247175 chr6 128134799 128134799 T G rs760383494 THEMIS Nonsynonymous SNV K329N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 247176 chr17 39388827 39388827 C T rs371122853 KRTAP9-3 Nonsynonymous SNV T25I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.472 247177 chr6 136554628 136554628 G A rs2274140 MTFR2 Synonymous SNV G293G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 247178 chr17 39537318 39537320 TTC - KRT34 K234del 0.001 0 0 0 1 0 0 0 0 0 0 0 247179 chr6 137482847 137482847 A C rs147016715 IL22RA2 Nonsynonymous SNV F14V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.497 247180 chr15 90630398 90630398 C T rs138800371 IDH2 Nonsynonymous SNV V175M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 247181 chr1 208201488 208201488 C T rs780393666 PLXNA2 Nonsynonymous SNV A1819T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 247182 chr1 208255832 208255832 T A rs143627584 PLXNA2 Nonsynonymous SNV I774F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 247183 chr6 146239297 146239297 C T rs367577101 SHPRH Synonymous SNV G1408G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.25 247184 chrX 19377103 19377103 G T PDHA1 Nonsynonymous SNV R292S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 247185 chr22 50695608 50695608 G T MAPK12 Nonsynonymous SNV P110Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 247186 chr1 210591554 210591554 G A rs751000967 HHAT Synonymous SNV G110G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.929 247187 chr17 40483490 40483490 T C STAT3 Nonsynonymous SNV K370R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 247188 chr1 211751479 211751479 - GGCCGT rs754738379 SLC30A1 G158_L159insHG 0.001 0 0 0 1 0 0 0 0 0 0 0 247189 chr19 56201314 56201314 G A EPN1 Nonsynonymous SNV E229K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 247190 chr17 42232778 42232778 A G HROB Nonsynonymous SNV K515R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 247191 chr1 21562397 21562397 T C ECE1 Nonsynonymous SNV I492M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 247192 chrX 48930125 48930125 T G PRAF2 Nonsynonymous SNV T122P 0.002 0.005 0 0 2 2 0 0 0 1 0 0 24.3 247193 chr16 555568 555568 G A rs148728201 RAB11FIP3 Synonymous SNV T170T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.245 247194 chr6 1611544 1611544 G A FOXC1 Synonymous SNV A288A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.601 247195 chr16 837732 837732 C T rs970430120 RPUSD1 Synonymous SNV E2E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.937 247196 chr16 847846 847846 G A rs371911391 CHTF18 Synonymous SNV T933T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.476 247197 chr15 34130020 34130020 G A rs201375567 RYR3 Nonsynonymous SNV A3942T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.8 247198 chr17 48823322 48823322 G A rs144725061 LUC7L3 Nonsynonymous SNV R312Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 247199 chr16 1391185 1391185 A G rs141276912 BAIAP3 Nonsynonymous SNV K175R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 247200 chr15 40018807 40018807 - A rs533786228 FSIP1 Stop gain E345* 0.001 0 0 0 1 0 0 0 0 0 0 0 247201 chr16 1551684 1551684 C A rs199748546 TELO2 Nonsynonymous SNV T461K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.796 247202 chr2 11773064 11773064 C G rs769582929 GREB1 Synonymous SNV L1622L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.27 247203 chr17 53828471 53828471 C T rs35116632 PCTP Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 247204 chr16 1719150 1719150 G A rs200957173 CRAMP1 Synonymous SNV S1161S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.868 247205 chr6 20781455 20781455 T G rs774750731 CDKAL1 Nonsynonymous SNV I199M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.43 247206 chr1 1221485 1221485 C T rs769617435 SCNN1D Synonymous SNV R246R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.48 247207 chr1 1326713 1326713 G C rs143065642 CCNL2 Nonsynonymous SNV A77G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.327 247208 chr16 2348510 2348510 G A rs777937901 ABCA3 Synonymous SNV Y591Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 247209 chr6 26056299 26056299 C T rs374082368 HIST1H1C Nonsynonymous SNV V120I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.153 247210 chr17 60813954 60813954 A G rs8068372 MARCHF10 Synonymous SNV I425I 0.003 0 0 0 3 0 0 0 0 0 0 0 4.32 247211 chr16 3063895 3063895 G A rs374732646 CLDN9 Nonsynonymous SNV G178R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 247212 chr15 42438359 42438359 G A rs377757066 PLA2G4F Synonymous SNV N500N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.87 247213 chr6 26423243 26423243 C A BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.718 247214 chr15 43527906 43527906 C T rs148534721 TGM5 Nonsynonymous SNV R410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 247215 chr16 3434671 3434671 G A ZSCAN32 Nonsynonymous SNV S52F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.51 247216 chr17 63052446 63052446 T C rs776632322 GNA13 Nonsynonymous SNV Y89C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 247217 chr16 58711314 58711314 A G SLC38A7 Nonsynonymous SNV V209A 0 0 0 2 0 0 0.005 0 0 0 0 0 23 247218 chr6 28358476 28358476 C A rs187082883 ZSCAN12 Nonsynonymous SNV G531W 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 31 247219 chr6 3017211 3017211 C T rs777543399 NQO2 Nonsynonymous SNV P133S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.5 247220 chr16 66783176 66783176 T C rs774047536 DYNC1LI2 Synonymous SNV L74L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.369 247221 chr6 33632984 33632984 A C rs769155997 ITPR3 Nonsynonymous SNV D468A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 247222 chr16 67860125 67860125 C T rs138622536 TSNAXIP1 Synonymous SNV D59D 0 0 0 2 0 0 0.005 0 0 0 0 0 12.29 247223 chr6 34511957 34511957 C T rs377537895 SPDEF Synonymous SNV Q92Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 247224 chr15 53081890 53081890 G A rs748705076 ONECUT1 Synonymous SNV G64G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.17 247225 chr6 38899654 38899654 C T rs765589828 DNAH8 Nonsynonymous SNV P3564L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 247226 chr6 38939412 38939412 C T rs150428096 DNAH8 Stop gain R3949X 0 0 0.003 0 0 0 0 1 0 0 0 0 48 247227 chr1 236735823 236735823 C T rs139560097 HEATR1 Nonsynonymous SNV V1199I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 247228 chr6 4099365 4099365 G T rs149222573 C6orf201 Nonsynonymous SNV G73W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 247229 chr15 56387489 56387489 T A rs777942315 RFX7 Nonsynonymous SNV I716F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 247230 chr16 14029409 14029409 G A rs769817145 ERCC4 Synonymous SNV S540S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 247231 chr15 57734575 57734575 A G rs145255148 CGNL1 Nonsynonymous SNV T568A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.021 247232 chr4 104512812 104512812 A G rs886058975 TACR3 Nonsynonymous SNV M306T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.87 247233 chr17 74005871 74005871 C T rs150391336 EVPL Nonsynonymous SNV V1161M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 247234 chr17 74143468 74143470 CAC - RNF157-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 247235 chr4 120221868 120221868 T C C4orf3 Synonymous SNV K74K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 247236 chr4 120221869 120221869 T C C4orf3 Nonsynonymous SNV K74R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 247237 chr17 74394400 74394400 C T rs759375922 UBE2O Nonsynonymous SNV R654H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 247238 chr17 74533508 74533508 C T rs780769869 CYGB Synonymous SNV E39E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 247239 chr4 68384063 68384063 A G CENPC Nonsynonymous SNV M214T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.049 247240 chr4 122085268 122085268 C A rs762720591 TNIP3 Nonsynonymous SNV V5L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.378 247241 chr2 174829162 174829162 C G rs745655065 SP3 Nonsynonymous SNV G43R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 247242 chr6 46632564 46632564 G A rs753660514 SLC25A27 Nonsynonymous SNV R187Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 247243 chr17 76456336 76456336 C T rs754934381 DNAH17 Nonsynonymous SNV V3115I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 247244 chr4 126389929 126389929 G T rs762007124 FAT4 Synonymous SNV V4056V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.482 247245 chr17 76973262 76973262 C T rs199499582 LGALS3BP Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 247246 chr15 73660438 73660438 G C HCN4 Synonymous SNV P58P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.81 247247 chr6 55300484 55300487 TACT - rs763100822 HMGCLL1 V230Hfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 247248 chr17 78388883 78388883 T C rs1027927672 RNF213-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.971 247249 chr1 110884068 110884068 C A rs137944396 RBM15 Synonymous SNV R681R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.49 247250 chr17 78449953 78449953 T C rs552577121 NPTX1 Synonymous SNV G98G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.13 247251 chr15 77471354 77471354 T C rs200955431 PEAK1 Nonsynonymous SNV H972R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.51 247252 chr2 185801080 185801080 T C ZNF804A Synonymous SNV S319S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.051 247253 chr1 111778356 111778356 T C rs769682705 CHI3L2 Synonymous SNV D182D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.959 247254 chr4 81123617 81123617 G A PRDM8 Nonsynonymous SNV G334D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.21 247255 chr16 56423146 56423146 G A rs775652347 AMFR Synonymous SNV A409A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 247256 chr16 56624774 56624774 G A rs764974356 MT3 Synonymous SNV A40A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.88 247257 chr1 114196521 114196521 G A rs143698690 MAGI3 Nonsynonymous SNV R837Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 247258 chr17 80403744 80403744 G A rs371573636 CYBC1 Synonymous SNV D84D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 247259 chr1 114514530 114514530 C T rs148680235 HIPK1 Nonsynonymous SNV A639V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.385 247260 chr1 32670842 32670842 C A rs200368399 CCDC28B Nonsynonymous SNV A199D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.64 247261 chr2 201437197 201437199 AAG - rs760093536 SGO2 K711del 0.002 0 0 0 2 0 0 0 0 0 0 0 247262 chr1 26349888 26349888 C T rs116675357 EXTL1 Nonsynonymous SNV R251C 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 247263 chr1 3380112 3380112 G A rs1031473979 ARHGEF16 Nonsynonymous SNV R155Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 247264 chr15 86284726 86284741 GGTAATGGGACTCCCT - AKAP13 V1308Ffs*8 0.002 0 0 0 2 0 0 0 0 0 0 0 247265 chr16 67226205 67226205 C T rs776775240 E2F4 Synonymous SNV L25L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 247266 chr16 68021508 68021508 G T DPEP2 Synonymous SNV A296A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.37 247267 chr1 35972724 35972724 C T KIAA0319L Nonsynonymous SNV S52N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 247268 chr18 8248168 8248168 A G rs527524261 PTPRM Nonsynonymous SNV I850V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.349 247269 chr1 36563961 36563961 C T COL8A2 Nonsynonymous SNV A376T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 247270 chr1 120277331 120277331 G T PHGDH Nonsynonymous SNV E195D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 247271 chr16 70765439 70765439 G A rs762141124 VAC14 Synonymous SNV S306S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 247272 chr1 38397372 38397372 C A rs371536609 INPP5B Nonsynonymous SNV A5S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 13.77 247273 chr1 33361284 33361284 C T rs764122807 TMEM54 Nonsynonymous SNV G91S 0 0 0 2 0 0 0.005 0 0 0 0 0 33 247274 chr1 12638814 12638814 C T rs560507056 DHRS3 Synonymous SNV P125P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.68 247275 chr18 21745091 21745091 A T rs376235956 OSBPL1A Synonymous SNV L383L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.709 247276 chr18 22007904 22007904 G A rs988983609 IMPACT Nonsynonymous SNV A20T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 247277 chr1 35250420 35250420 G A rs77186953 GJB3 Synonymous SNV A19A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.142 247278 chr16 75269491 75269491 G A rs750288671 BCAR1 Nonsynonymous SNV R226C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 247279 chr15 90784558 90784558 C T rs147221532 GDPGP1 Nonsynonymous SNV R140W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 247280 chr18 30825388 30825388 G A rs146565345 CCDC178 Nonsynonymous SNV R472W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 247281 chr4 187630302 187630302 C T rs376051210 FAT1 Nonsynonymous SNV R227H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 247282 chr15 99827476 99827476 A G LRRC28 Nonsynonymous SNV N75S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 247283 chr1 152084679 152084717 CTGCTGCTCGCGCCTCTCCTCCTGCTGCTCGCGCCTCTC - rs778502018 TCHH E326_Q338del 0 0 0 1 0 0 0.003 0 0 0 0 0 247284 chr4 25030200 25030200 C T LGI2 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 247285 chr1 153233535 153233535 - CGG rs770195151 LOR G41_S42insG 0 0 0 1 0 0 0.003 0 0 0 0 0 247286 chr1 46159014 46159014 A T rs535413409 TMEM69 Nonsynonymous SNV T61S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 247287 chr15 102346271 102346271 G A rs141569282 OR4F6 Nonsynonymous SNV A117T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.07 247288 chr4 2940429 2940429 C T rs10000927 NOP14-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 5.607 247289 chr7 100850184 100850184 G C rs368456141 PLOD3 Nonsynonymous SNV A646G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 247290 chr16 88494814 88494814 G A rs769026765 ZNF469 Synonymous SNV A312A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.945 247291 chr1 46099164 46099164 T C rs527981998 GPBP1L1 Synonymous SNV E347E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.852 247292 chr1 46120242 46120242 T C rs566826305 GPBP1L1 Synonymous SNV E150E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.973 247293 chr7 1027990 1027990 C T rs770923014 CYP2W1 Synonymous SNV P407P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.486 247294 chr1 53440504 53440504 C T SCP2 Nonsynonymous SNV P152L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 247295 chr18 58039278 58039278 A G rs121913559 MC4R Nonsynonymous SNV I102T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 247296 chr18 59936671 59936671 G A RELCH Nonsynonymous SNV E930K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.134 247297 chr1 156702216 156702216 G A rs118116867 RRNAD1 Nonsynonymous SNV R127Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 247298 chr4 4304437 4304437 G A rs142461013 ZBTB49 Nonsynonymous SNV A292T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.96 247299 chr1 156815552 156815552 T A INSRR Nonsynonymous SNV D678V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.631 247300 chr1 156815553 156815553 C T INSRR Nonsynonymous SNV D678N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 247301 chr4 4543541 4543541 T C rs36109375 STX18 Nonsynonymous SNV S51G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 247302 chr7 1197815 1197815 C - ZFAND2A E12Kfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 247303 chr7 123388690 123388690 G A rs532047540 WASL Synonymous SNV F33F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.587 247304 chr1 158225904 158225906 AAT - CD1A N135del 0 0 0 1 0 0 0.003 0 0 0 0 0 247305 chr18 66365209 66365209 C T rs201057152 TMX3 Nonsynonymous SNV R10H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 247306 chr1 6314783 6314783 G A rs374113239 GPR153 Synonymous SNV I61I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 247307 chr1 63270864 63270864 C T rs202024659 ATG4C Nonsynonymous SNV T33M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 247308 chr1 160063582 160063582 C G rs767974539 IGSF8 Nonsynonymous SNV E274D 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 247309 chr1 6453425 6453425 C T rs753105210 ACOT7 Nonsynonymous SNV G12D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 247310 chr16 7629802 7629802 G A rs372977736 RBFOX1 Synonymous SNV T118T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.42 247311 chr19 860919 860919 T C rs755261007 CFD Nonsynonymous SNV S98P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 247312 chr1 67804375 67804375 C T rs755553813 IL12RB2 Nonsynonymous SNV L343F 0.001 0 0 0 1 0 0 0 0 0 0 0 25 247313 chr1 68603465 68603465 T C rs764940216 WLS Nonsynonymous SNV N414S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 247314 chr1 68910339 68910339 G A rs61752877 RPE65 Stop gain R124X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 37 247315 chr1 74834711 74834711 G T rs764651286 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV A443S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 247316 chr1 74834712 74834712 C A rs774773030 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV A443E 0.002 0 0 0 2 0 0 0 0 0 0 0 32 247317 chr16 15967373 15967373 T A rs201020289 FOPNL Nonsynonymous SNV R75S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.348 247318 chr1 7798416 7798416 G A rs754566000 CAMTA1 Synonymous SNV Q395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.143 247319 chr7 1476397 1476397 G A rs145721481 MICALL2 Synonymous SNV L858L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.185 247320 chr7 148511123 148511123 A G rs774394372 EZH2 Synonymous SNV C537C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.961 247321 chr19 2222456 2222456 G A DOT1L Synonymous SNV T1096T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.647 247322 chr19 2807532 2807532 C G rs146411808 THOP1 Nonsynonymous SNV P327A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 247323 chr4 82096035 82096035 C T rs145769252 PRKG2 Nonsynonymous SNV M180I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.77 247324 chr16 29818501 29818509 CGCCCCCTC - rs762705565 MAZ P137_P139del 0.002 0 0 0 2 0 0 0 0 0 0 0 247325 chr19 4433151 4433151 G A rs115461571 CHAF1A Nonsynonymous SNV R763Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 247326 chr1 94955371 94955371 G A rs200036674 ABCD3 Synonymous SNV K416K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 247327 chr19 4902646 4902646 T A ARRDC5 Nonsynonymous SNV R64S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 247328 chr1 192779503 192779503 T C rs757727614 RGS2 Synonymous SNV P72P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.057 247329 chr7 2854558 2854558 G A rs183421822 GNA12 Nonsynonymous SNV R3W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.591 247330 chr19 5221124 5221124 G A rs73919783 PTPRS Synonymous SNV T683T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.11 247331 chr19 5456577 5456577 G C rs199956516 ZNRF4 Nonsynonymous SNV E359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.512 247332 chr19 5705792 5705792 G A rs780593199 LONP1 Nonsynonymous SNV S257L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 247333 chr17 9850286 9850286 C T rs34907720 GAS7 Synonymous SNV T40T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 14.04 247334 chr17 10247116 10247116 C A MYH13 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 247335 chr17 10296274 10296274 G A rs529647820 MYH8 Synonymous SNV S1779S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 247336 chr16 67976851 67976851 C T rs35673026 LCAT Nonsynonymous SNV V114M 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign 1.457 247337 chr19 6535050 6535050 C T rs61733920 TNFSF9 Synonymous SNV A246A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 247338 chr16 69149158 69149158 G A rs368360996 HAS3 Nonsynonymous SNV A551T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.8 247339 chr5 112769915 112769915 T G rs200685350 TSSK1B Nonsynonymous SNV I208L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 247340 chr7 4056853 4056853 G T rs750881714 SDK1 Nonsynonymous SNV S824I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 247341 chr19 8003021 8003021 T C rs117812409 TIMM44 Nonsynonymous SNV K68R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.94 247342 chr19 8028442 8028442 T A rs117307819 ELAVL1 Synonymous SNV I302I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.713 247343 chr16 74983687 74983687 G C WDR59 Nonsynonymous SNV D112E 0.002 0 0 0 2 0 0 0 0 0 0 0 27 247344 chr17 19316074 19316074 G A RNF112 Nonsynonymous SNV R120Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.67 247345 chr19 8168564 8168564 G A rs145344717 FBN3 Synonymous SNV D1607D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 247346 chr20 29978281 29978281 T - DEFB119 K2Nfs*13 0.002 0 0 0 2 0 0 0 0 0 0 0 247347 chr20 3025334 3025334 T - rs776864877 GNRH2 L55Rfs*50 0.001 0 0 0 1 0 0 0 0 0 0 0 247348 chr2 71060782 71060782 C T rs551434216 CD207 Nonsynonymous SNV R187Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.069 247349 chr7 47917120 47917120 G T rs145960512 PKD1L1 Synonymous SNV T1210T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.076 247350 chr7 4839089 4839089 C T rs373495982 RADIL Nonsynonymous SNV G1050R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 247351 chr5 1323922 1323922 G A rs375610957 CLPTM1L Synonymous SNV L420L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.982 247352 chr20 34241135 34241135 C G RBM12 Nonsynonymous SNV E704Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.06 247353 chr7 5410665 5410665 A G rs758034480 TNRC18 Nonsynonymous SNV M1187T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.172 247354 chr7 5428684 5428684 G C TNRC18 Synonymous SNV R257R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.313 247355 chr17 26888563 26888563 G A rs143746801 PIGS Nonsynonymous SNV R185C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 247356 chr5 13770861 13770861 T C DNAH5 Nonsynonymous SNV N3201S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 247357 chr17 27044237 27044237 C T rs143463372 RAB34 Nonsynonymous SNV A164T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.12 247358 chr20 36625309 36625309 C T rs572474788 TTI1 Nonsynonymous SNV R947Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 247359 chr16 87866625 87866625 G A rs144253961 SLC7A5 Nonsynonymous SNV T492M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.456 247360 chr17 65871133 65871133 G C BPTF Nonsynonymous SNV E621Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 247361 chr17 65871722 65871722 G A rs142682518 BPTF Nonsynonymous SNV D639N 0 0 0 2 0 0 0.005 0 0 0 0 0 16.06 247362 chr3 10183782 10183782 T C VHL Nonsynonymous SNV V84A 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Uncertain significance 20.7 247363 chr17 6945341 6945341 C T rs377215105 SLC16A11 Nonsynonymous SNV G363E 0 0 0 2 0 0 0.005 0 0 0 0 0 26.8 247364 chr1 155252286 155252286 G A rs115794670 HCN3 Synonymous SNV E121E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.155 247365 chr19 9324726 9324726 G C rs753458803 OR7D4 Nonsynonymous SNV A263G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 247366 chr5 140774309 140774309 G A rs752402821 PCDHGA8 Synonymous SNV V643V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.203 247367 chr19 9639153 9639153 T C ZNF426 Nonsynonymous SNV E485G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 247368 chr17 38555110 38555110 G A TOP2A Nonsynonymous SNV P1123L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 247369 chr7 91623988 91623988 C T AKAP9 Synonymous SNV L210L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 247370 chr17 7193301 7193301 C T rs933441056 YBX2 Synonymous SNV R278R 0 0 0 2 0 0 0.005 0 0 0 0 0 16.3 247371 chr1 156816461 156816461 G A rs56068937 INSRR Nonsynonymous SNV R554C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 33 247372 chr1 156821885 156821885 A G rs56377825 INSRR Nonsynonymous SNV C246R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 22.8 247373 chr19 11034315 11034315 G A YIPF2 Synonymous SNV L191L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.925 247374 chr16 89929944 89929944 C T rs142258282 SPIRE2 Nonsynonymous SNV R546C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 247375 chr16 89986065 89986065 C T rs201429598 MC1R Synonymous SNV C133C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 14.35 247376 chr16 89986119 89986119 C G rs201827012 MC1R Synonymous SNV R151R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 12.15 247377 chr20 50273570 50273570 G A rs150632110 ATP9A Synonymous SNV P471P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 247378 chr1 225548564 225548564 T C rs562577163 DNAH14 Synonymous SNV F3986F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.355 247379 chr19 14037647 14037647 A G rs749352209 CC2D1A Nonsynonymous SNV K696R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 247380 chr20 56227136 56227138 CTT - PMEPA1 K251del 0.001 0 0 0 1 0 0 0 0 0 0 0 247381 chr17 1840789 1840789 G A rs376642147 RTN4RL1 Synonymous SNV D109D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.14 247382 chr19 14884843 14884843 C T rs139612102 ADGRE2 Nonsynonymous SNV D36N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 247383 chr20 60551329 60551329 C T rs140373717 TAF4 Synonymous SNV T1051T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.559 247384 chr17 74474970 74474970 C T rs371840546 RHBDF2 Nonsynonymous SNV R197H 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 247385 chr8 11666130 11666130 C T FDFT1 Nonsynonymous SNV P35L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 247386 chr1 229773219 229773219 A G rs114289841 URB2 Synonymous SNV Q953Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.425 247387 chr20 60968561 60968561 C T rs143243918 CABLES2 Nonsynonymous SNV R272Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 247388 chr3 124459010 124459010 C T rs141569027 UMPS Synonymous SNV T374T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.3 247389 chr20 61448930 61448938 CCCCGGCCC - rs544133282 COL9A3 P39_G41del 0.002 0 0 0 2 0 0 0 0 0 0 0 247390 chr8 125103719 125103719 C A rs141164874 FER1L6 Nonsynonymous SNV L1483I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 247391 chr20 62187711 62187711 T G rs887004050 FNDC11 Nonsynonymous SNV I232S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.379 247392 chr17 48594690 48594690 C T rs141768814 MYCBPAP Nonsynonymous SNV R81C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.69 247393 chr8 133807058 133807058 A G rs764444506 PHF20L1 Nonsynonymous SNV K112R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 247394 chr1 173961892 173961892 C T RC3H1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 247395 chr19 18047270 18047270 C T rs368274987 CCDC124 Nonsynonymous SNV A14V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 247396 chr19 18191790 18191790 G A rs373545812 IL12RB1 Synonymous SNV C87C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.566 247397 chr19 18870998 18870998 G A rs112538945 CRTC1 Synonymous SNV A282A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.34 247398 chr21 22804429 22804429 C T rs199571975 NCAM2 Synonymous SNV D352D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.922 247399 chr19 20229637 20229637 A G rs782422559 ZNF90 Nonsynonymous SNV Y425C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 247400 chr6 133045817 133045817 C T rs752600681 VNN3 Synonymous SNV K85K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.643 247401 chr21 32638735 32638735 A G rs756487781 TIAM1 Nonsynonymous SNV L185P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 247402 chr21 34648943 34648943 G A IL10RB Synonymous SNV T72T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.18 247403 chr21 35144615 35144615 T C rs747085208 ITSN1 Synonymous SNV I431I 0.003 0 0 0 3 0 0 0 0 0 0 0 4.486 247404 chr8 144998498 144998498 G A rs201097276 PLEC Nonsynonymous SNV R1853W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 247405 chr21 38600095 38600095 C T VPS26C Nonsynonymous SNV G99D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 247406 chr8 145730700 145730700 C T rs144520970 GPT Synonymous SNV Y189Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.989 247407 chr8 145736086 145736086 C A rs35971959 MFSD3 Nonsynonymous SNV D312E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.383 247408 chr8 145737350 145737350 C G rs35101495 RECQL4 Nonsynonymous SNV G1113R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.619 247409 chr8 145737630 145737630 C T rs35348691 RECQL4 Nonsynonymous SNV A1045T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.12 247410 chr3 15507895 15507895 G A rs762151906 COLQ Nonsynonymous SNV P222L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 247411 chr8 145738649 145738649 G A rs34735741 RECQL4 Synonymous SNV A805A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.89 247412 chr21 42774040 42774040 C T rs752224352 MX2 Nonsynonymous SNV L520F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 247413 chr8 145748075 145748075 T G rs112652028 LRRC24 Synonymous SNV G442G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.756 247414 chr1 202119534 202119534 C T rs760653646 PTPN7 Synonymous SNV T298T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.56 247415 chr8 15978112 15978112 G A rs138987923 MSR1 Nonsynonymous SNV P364L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.067 247416 chr19 36230670 36230670 C G IGFLR1 Nonsynonymous SNV G53A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 247417 chr17 73106671 73106671 G A rs769760825 ARMC7 Nonsynonymous SNV E69K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 247418 chr17 73750690 73750690 - C ITGB4 Frameshift insertion S1384Qfs*171 0 0.003 0 0 0 1 0 0 0 0 0 0 247419 chr8 20068092 20068092 A G rs1035516813 ATP6V1B2 Nonsynonymous SNV N133S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 247420 chr21 46233824 46233824 G A SUMO3 Nonsynonymous SNV P73S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.218 247421 chr8 26722008 26722008 C G rs1037610094 ADRA1A Nonsynonymous SNV G160A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 247422 chr1 3413612 3413612 G C rs199684134 MEGF6 Nonsynonymous SNV H1185D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.04 247423 chr22 18301207 18301207 G A rs770089497 MICAL3 Nonsynonymous SNV P1407L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 247424 chr8 28575233 28575233 A T EXTL3 Nonsynonymous SNV I553F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 247425 chr5 74912693 74912693 G A ANKDD1B Synonymous SNV K86K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 247426 chr8 30699531 30699531 T C TEX15 Nonsynonymous SNV K2718E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 247427 chr17 27890043 27890043 G A rs150059487 ABHD15 Stop gain R315X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 247428 chr19 42383708 42383708 G A rs781984117 CD79A Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.813 247429 chr19 42585080 42585080 G A rs371599905 ZNF574 Synonymous SNV A864A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.631 247430 chr22 21799719 21799719 G A rs201841373 HIC2 Nonsynonymous SNV V179M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.204 247431 chr8 41906160 41906160 C G rs138399992 KAT6A Nonsynonymous SNV E112D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.14 247432 chr17 79164836 79164836 C T rs369909018 CEP131 Synonymous SNV E902E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.04 247433 chr17 79171959 79171959 G A rs150256277 CEP131 Nonsynonymous SNV R476C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.78 247434 chr17 79176142 79176142 A G rs111681839 CEP131 Nonsynonymous SNV L229P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.524 247435 chr17 79202800 79202800 T C rs372573540 TEPSIN Synonymous SNV T502T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.33 247436 chr8 56015551 56015551 T C XKR4 Nonsynonymous SNV V168A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 247437 chr8 56365608 56365608 C T rs111527620 SBF1P1 0 0 0.01 0 0 0 0 3 0 0 0 0 15.85 247438 chr3 195966523 195966523 A T rs755321658 PCYT1A Synonymous SNV V264V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.184 247439 chr8 62412077 62412077 C T rs144057634 CLVS1 Synonymous SNV T347T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.62 247440 chr19 44770421 44770421 A G rs748184386 ZNF233 Nonsynonymous SNV Q29R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 247441 chr17 36482709 36482709 C T rs777801317 GPR179 Nonsynonymous SNV G2248E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.87 247442 chr17 79687144 79687144 C T rs370799277 SLC25A10 Nonsynonymous SNV T273M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.178 247443 chr17 80194546 80194546 G A rs527618385 MIR6787 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.316 247444 chr8 71573316 71573316 G A rs72667708 LACTB2-AS1 0 0 0.017 0 0 0 0 5 0 0 0 0 15.88 247445 chr19 45900081 45900081 G T PPP1R13L Nonsynonymous SNV A145D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 247446 chr3 33134804 33134804 A G TMPPE Nonsynonymous SNV L295P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 247447 chr19 46198714 46198714 G A rs144811190 QPCTL Nonsynonymous SNV R124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 247448 chr8 94746470 94746470 G T RBM12B Nonsynonymous SNV F723L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 247449 chr19 48197376 48197376 C T rs951901580 BICRA Nonsynonymous SNV P763L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 247450 chr6 41038980 41038980 C T rs151298536 OARD1 Synonymous SNV P25P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.11 247451 chr6 43305068 43305068 A G rs151125945 ZNF318 Nonsynonymous SNV L2223P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.019 247452 chr6 117710897 117710897 C A rs41291920 ROS1 Nonsynonymous SNV A459S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 247453 chr9 107562234 107562234 G A rs747262706 ABCA1 Synonymous SNV S1603S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 247454 chr19 49469561 49469577 TAAAACCCCAGACGCCA - FTL K92Efs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 247455 chr9 112195403 112195403 G A rs377671421 PTPN3 Synonymous SNV S107S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.664 247456 chr18 29049087 29049087 C A rs772341357 DSG3 Nonsynonymous SNV P558T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.651 247457 chr19 50099959 50099959 C T rs369869295 PRR12 Synonymous SNV D789D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.46 247458 chr9 114904712 114904712 C T rs3780513 SUSD1 Synonymous SNV L198L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.51 247459 chr9 114911591 114911591 G A rs75423111 SUSD1 Synonymous SNV C102C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.68 247460 chr17 45216111 45216111 C T rs759973282 CDC27 Synonymous SNV S469S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.58 247461 chr1 6659277 6659277 C T rs760660606 KLHL21 Synonymous SNV A419A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.46 247462 chr19 51518730 51518730 G A rs61752340 KLK10 Synonymous SNV G207G 0.003 0.005 0 0 4 2 0 0 0 0 0 0 12.66 247463 chr9 123912646 123912646 A G rs771296962 CNTRL Nonsynonymous SNV Y731C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 247464 chr19 51827093 51827093 C T rs371414813 IGLON5 Synonymous SNV C112C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 11.82 247465 chr6 152129079 152129079 G A ESR1 Nonsynonymous SNV G11E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 247466 chr2 11751069 11751069 G T GREB1 Synonymous SNV L974L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.113 247467 chr17 55019472 55019472 G A COIL Nonsynonymous SNV P524L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 247468 chr18 61233859 61233859 A G rs534127193 SERPINB12 Nonsynonymous SNV Y298C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 247469 chr22 50657610 50657610 C T rs201406500 TUBGCP6 Nonsynonymous SNV D1505N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 247470 chr22 50722054 50722054 C T rs368198701 PLXNB2 Synonymous SNV P849P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 247471 chr17 61561246 61561246 T G ACE Nonsynonymous SNV H541Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25 247472 chr18 77037167 77037167 G A rs768544807 ATP9B Nonsynonymous SNV R461H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 247473 chr19 407399 407399 G A rs1053523311 C2CD4C Synonymous SNV R321R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.901 247474 chr9 135464660 135464660 G A rs756231019 BARHL1 Synonymous SNV A245A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 247475 chr2 105959451 105959451 C A C2orf49 Nonsynonymous SNV A138D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 247476 chr2 109109144 109109144 C T rs781045802 GCC2 Nonsynonymous SNV H1449Y 0.003 0 0 1 3 0 0.003 0 1 0 0 0 17.79 247477 chr9 136522317 136522317 T C rs201973877 DBH Nonsynonymous SNV M563T 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 247478 chr2 110259140 110259140 C T rs199571641 SH3RF3 Synonymous SNV G847G 0.003 0 0 1 4 0 0.003 0 1 0 0 0 19.42 247479 chr19 21719343 21719344 AC - ZNF429 Stop gain Y99* 0 0 0 2 0 0 0.005 0 0 0 0 0 247480 chr20 17623692 17623692 C T rs182919204 RRBP1 Nonsynonymous SNV G665S 0 0 0 1 0 0 0.003 0 0 0 0 0 27 247481 chr19 1093927 1093927 C T rs367830828 POLR2E Nonsynonymous SNV D70N 0 0.003 0 0 0 1 0 0 0 0 0 0 24 247482 chr19 56241332 56241332 C T rs150982652 NLRP9 Nonsynonymous SNV R620Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.166 247483 chr9 139396296 139396296 G A NOTCH1 Synonymous SNV L1848L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 247484 chr19 1912324 1912324 G C ADAT3 Nonsynonymous SNV R77P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 247485 chr19 2098294 2098294 C T rs143210384 IZUMO4 Nonsynonymous SNV A161V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.647 247486 chr19 2115317 2115317 C T rs778795157 AP3D1 Synonymous SNV E750E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.63 247487 chr19 2252458 2252458 C T rs767647456 JSRP1 Nonsynonymous SNV R289Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 247488 chr9 139849835 139849835 A G LCN12 Nonsynonymous SNV Q188R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 247489 chr19 56701450 56701450 T G rs16987048 ZSCAN5B Nonsynonymous SNV M412L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 247490 chr19 3179513 3179513 G A rs142607299 S1PR4 Synonymous SNV A241A 0 0 0 3 0 0 0.008 0 0 0 0 0 1.303 247491 chr19 2808418 2808418 - TCATGCACTTCTCAGGGTTCTCAGTGACTTCATAGGACT THOP1 Stop gain V478_C689delinsSCTSQGSQ 0 0.003 0 1 0 1 0.003 0 0 0 0 0 247492 chr19 3192514 3192514 G A rs535152024 NCLN Synonymous SNV A77A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.4 247493 chr9 140328429 140328429 C G rs189599937 NOXA1 Nonsynonymous SNV R342G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 247494 chr19 3586932 3586933 CG - GIPC3 R178Gfs*60 0 0.003 0 0 0 1 0 0 0 0 0 0 247495 chr19 57286435 57286435 C T rs149003066 ZIM2 Nonsynonymous SNV R402H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 247496 chr19 57647092 57647092 C T rs35202951 ZIM3 Nonsynonymous SNV G205R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.578 247497 chr19 57705281 57705281 C T rs7258170 ZNF264 Synonymous SNV T24T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 247498 chr19 57722962 57722962 G A rs61730301 ZNF264 Nonsynonymous SNV G166D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 247499 chr19 3525955 3525955 C T rs771167751 FZR1 Synonymous SNV A53A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.08 247500 chr19 57764519 57764519 A G rs61736506 ZNF805 Nonsynonymous SNV Q111R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 247501 chr19 57832228 57832228 G T rs770636534 ZNF543 Nonsynonymous SNV A3S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.922 247502 chr19 3821359 3821359 C T rs553934114 ZFR2 Nonsynonymous SNV R537Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 1 8.49 247503 chr19 57931352 57931352 A G rs150677685 ZNF17 Synonymous SNV Q164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.327 247504 chr19 3977504 3977504 T C rs777557385 EEF2 Synonymous SNV T724T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 1 0.126 247505 chr19 58213780 58213780 A G rs746618327 ZNF154 Synonymous SNV H179H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.1 247506 chr6 36343659 36343659 G A rs376778047 ETV7 Nonsynonymous SNV A18V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 247507 chr19 59022682 59022682 G A rs113904799 SLC27A5 Nonsynonymous SNV A214V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.434 247508 chr6 36685102 36685113 CTGGCAGGCAAC - rs908994827 RAB44 N186_G189del 0.001 0 0 0 1 0 0 0 0 0 0 0 247509 chr2 74709177 74709177 T C rs765188998 CCDC142 Nonsynonymous SNV Q263R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.61 247510 chr19 5687773 5687773 G A rs750820052 HSD11B1L Nonsynonymous SNV E115K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.328 247511 chr20 34782170 34782170 A G rs146290051 EPB41L1 Nonsynonymous SNV H384R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.99 247512 chr4 154315472 154315472 T C rs779971638 MND1 Nonsynonymous SNV I112T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 247513 chr17 80615794 80615794 C - RAB40B R261Pfs*91 0.002 0 0 0 2 0 0 0 0 0 0 0 247514 chr7 127669008 127669008 G A rs74330692 LRRC4 Synonymous SNV A562A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.784 247515 chr18 2567134 2567134 G C METTL4 Nonsynonymous SNV Q28E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.197 247516 chr20 2644573 2644573 G A rs962723373 IDH3B Stop gain Q39X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 247517 chr6 43970504 43970506 GCG - rs571541469 C6orf223 0.001 0 0 0 1 0 0 0 0 0 0 0 247518 chr9 85605317 85605317 C T rs768556412 RASEF Synonymous SNV L702L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 247519 chr20 3782972 3782972 C A rs775300673 CDC25B Synonymous SNV I189I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 247520 chr9 88655669 88655669 G A rs779822821 GOLM1 Synonymous SNV N194N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.042 247521 chr20 4680238 4680238 C G rs201423990 PRNP Synonymous SNV G124G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.43 247522 chr20 47700678 47700678 G A rs747670372 CSE1L Nonsynonymous SNV R477Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 247523 chr6 49399469 49399469 C T MMUT Nonsynonymous SNV C742Y 0.005 0 0 1 6 0 0.003 0 0 0 0 0 22.5 247524 chr20 13260457 13260457 C T rs377766422 ISM1 Synonymous SNV D185D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 247525 chrM 2261 2261 C T RNR2 0 0 0.014 0 0 0 0 4 0 0 2 0 247526 chrUn_gl000220 122142 122153 TCCTCCTCCTCC - LOC100507412 0 0 0.007 0 0 0 0 2 0 0 0 0 247527 chrX 100532609 100532609 C G TAF7L Nonsynonymous SNV G226R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 247528 chr20 17970828 17970828 A G MGME1 Synonymous SNV X253X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.919 247529 chrX 103495090 103495090 - GCGCCATGGGCGGCCCGGGTGGCAGAGGCGCCATGGGCGGCCCGGGTGGCACAC ESX1 A346_P347insRVPPGPPMAPLPPGPPMA 0 0 0.007 0 0 0 0 2 0 0 0 0 247530 chr20 56728609 56728609 T A rs61754559 C20orf85 Synonymous SNV R26R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.165 247531 chr6 75843667 75843667 G A COL12A1 Synonymous SNV T693T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.49 247532 chr2 131113681 131113681 A G rs1047417611 PTPN18 Star tloss M1? 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.5 247533 chrX 151821362 151821362 C T rs201961702 GABRQ Nonsynonymous SNV S506L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 247534 chr20 36936045 36936045 G C rs779087118 BPI Nonsynonymous SNV K69N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 247535 chr20 37214760 37214760 C T rs370872771 ADIG Synonymous SNV H71H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.766 247536 chrX 15270493 15270493 G A rs754500695 ASB9 Synonymous SNV L106L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.899 247537 chr2 196883957 196883957 T A rs200888883 DNAH7 Nonsynonymous SNV D269V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 247538 chr18 60191350 60191350 C G rs535474174 ZCCHC2 Synonymous SNV A231A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 247539 chr20 43850613 43850613 A G SEMG2 Nonsynonymous SNV R114G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 247540 chr2 203500141 203500141 - GGCGGC rs565502997 FAM117B G84_P85insGG 0.001 0 0 0 1 0 0 0 0 0 0 0 247541 chr19 14200109 14200109 T A rs8062 SAMD1 Nonsynonymous SNV E234D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 5.775 247542 chr19 14262285 14262285 G A rs149661276 ADGRL1 Synonymous SNV A1270A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.299 247543 chrX 47064817 47064817 C T rs5953007 INE1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.25 247544 chrX 47486643 47486643 G A rs367635632 CFP Synonymous SNV S221S 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Benign 3.148 247545 chrX 47519504 47519504 - CCTT rs764211703 UXT-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 247546 chrX 49645233 49645233 C T USP27X Nonsynonymous SNV S108F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 247547 chr20 49232571 49232571 G A rs147229572 RIPOR3 Nonsynonymous SNV R106C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 247548 chrX 50659132 50659132 A G rs104894765 BMP15 Nonsynonymous SNV Y235C 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 20.5 247549 chr19 14877182 14877182 A G rs149621907 ADGRE2 Nonsynonymous SNV C167R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 247550 chrX 54837466 54837466 C T rs920346291 MAGED2 Synonymous SNV A250A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.45 247551 chrX 63563559 63563559 C G MTMR8 Nonsynonymous SNV G303R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 247552 chr19 15166246 15166246 A G rs759729378 CASP14 Nonsynonymous SNV I176V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 247553 chr20 55966699 55966699 C T rs371553583 RBM38 Nonsynonymous SNV P21L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.78 247554 chr19 814969 814969 G A PLPPR3 Synonymous SNV L172L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.47 247555 chr21 37706000 37706000 A G MORC3 Synonymous SNV A32A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 247556 chr21 37833279 37833279 C T rs201218449 CLDN14 Nonsynonymous SNV V239M 0 0 0 1 0 0 0.003 0 0 0 0 0 29 247557 chrX 73041469 73041469 G C rs369772052 TSIX, XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 2.257 247558 chr4 68340622 68340622 C T rs201433526 CENPC Synonymous SNV S907S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 14.64 247559 chr20 58489174 58489174 T G SYCP2 Nonsynonymous SNV E256A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 247560 chr19 1004885 1004885 C T rs377106421 GRIN3B Nonsynonymous SNV A462V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.64 247561 chr2 216257772 216257772 G A rs763439987 FN1 Synonymous SNV D1317D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.638 247562 chr21 43164198 43164198 C T rs150480670 RIPK4 Nonsynonymous SNV V347I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.193 247563 chr10 101594248 101594248 A G rs775953981 ABCC2 Nonsynonymous SNV T1124A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 247564 chr10 102048760 102048760 G T PKD2L1 Nonsynonymous SNV D721E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.369 247565 chr20 61391383 61391383 T C rs143899545 NTSR1 Nonsynonymous SNV F341L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.8 247566 chr21 43533846 43533846 G A UMODL1 Synonymous SNV L812L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.643 247567 chr10 104596920 104596920 G A rs750853745 CYP17A1 Nonsynonymous SNV R67C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 247568 chr20 61595614 61595614 C T rs199653809 SLC17A9 Nonsynonymous SNV A286V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 247569 chr19 17611563 17611563 G A rs149049260 SLC27A1 Nonsynonymous SNV R505Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 247570 chr10 106401574 106401574 T C SORCS3 Synonymous SNV G163G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.965 247571 chr20 62293235 62293235 G A rs151214675 RTEL1 Nonsynonymous SNV A112T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.3 247572 chr10 112581138 112581138 A G rs397516608 RBM20 Nonsynonymous SNV I921V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 247573 chr20 62729244 62729244 G A rs760237912 OPRL1 Nonsynonymous SNV G103D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 247574 chr21 19687517 19687517 T G rs11088674 TMPRSS15 Nonsynonymous SNV N660H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.879 247575 chr21 19701577 19701577 A G rs77090664 TMPRSS15 Synonymous SNV N563N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.976 247576 chr4 845635 845635 C G GAK Synonymous SNV P1058P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.293 247577 chr21 32185461 32185461 G A KRTAP8-1 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 247578 chr21 34100287 34100298 CCGCAGCCGCCG - SYNJ1 G19_G22del 0.001 0 0 0 1 0 0 0 0 0 0 0 247579 chr19 4447598 4447598 G T rs376182636 UBXN6 Nonsynonymous SNV H135Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 247580 chr7 113518008 113518008 C A PPP1R3A Nonsynonymous SNV D1047Y 0.003 0 0 0 3 0 0 0 0 0 0 0 11.34 247581 chr4 955556 955556 G A DGKQ Synonymous SNV H794H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.352 247582 chr21 37572735 37572735 A G DOP1B Nonsynonymous SNV S143G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.432 247583 chr10 124812634 124812634 A G rs199963793 ACADSB Nonsynonymous SNV K294E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.2 247584 chr21 38524295 38524295 A G rs145450740 TTC3 Synonymous SNV R71R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.399 247585 chr21 42064779 42064779 G C DSCAM Nonsynonymous SNV I155M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 247586 chr19 36322018 36322018 G A rs143092783 NPHS1 Nonsynonymous SNV R1140C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely pathogenic 23.3 247587 chr10 134219226 134219226 G A PWWP2B Nonsynonymous SNV V408I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 247588 chr19 7083323 7083323 G A rs778315268 ZNF557 Synonymous SNV T287T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.052 247589 chr19 7506874 7506874 C T rs370517063 ARHGEF18 Synonymous SNV A190A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.45 247590 chr10 135082983 135082983 G A rs753231293 ADAM8 Synonymous SNV P573P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.037 247591 chr22 26887635 26887635 C T rs764574020 SRRD Synonymous SNV D339D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.628 247592 chr19 7965673 7965673 C T rs201931291 LRRC8E Nonsynonymous SNV R627C 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 247593 chr21 45928721 45928721 G A rs781799311 TSPEAR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.691 247594 chr10 15106413 15106413 A G rs540718634 OLAH Nonsynonymous SNV Y105C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 247595 chr5 127680185 127680185 C A rs774996980 FBN2 Nonsynonymous SNV A1079S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.8 247596 chr19 55738900 55738900 G A rs370734858 TMEM86B Synonymous SNV L109L 0.003 0 0 5 3 0 0.013 0 0 0 0 0 17.91 247597 chr19 39915591 39915591 A G rs748396149 PLEKHG2 Nonsynonymous SNV N1273S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 247598 chr7 140402753 140402753 C T rs147835245 NDUFB2 Synonymous SNV S62S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.603 247599 chr2 242430501 242430501 A T rs150786024 FARP2 Nonsynonymous SNV M844L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.663 247600 chr19 55877436 55877436 C G IL11 Nonsynonymous SNV G101A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 21.9 247601 chr19 55899521 55899521 C T rs759863825 RPL28 Synonymous SNV C143C 0.001 0 0 4 1 0 0.01 0 0 0 0 0 3.75 247602 chr10 21845738 21845738 C G MLLT10 Nonsynonymous SNV A136G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.262 247603 chr21 47552005 47552005 C T rs144484744 COL6A2 Nonsynonymous SNV R867W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.3 247604 chr19 40521557 40521557 C T rs146960996 ZNF546 Stop gain R768X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 247605 chr19 9008277 9008277 G A rs202222603 MUC16 Nonsynonymous SNV P13092L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.77 247606 chr5 137278721 137278721 C T FAM13B Nonsynonymous SNV E761K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 247607 chr22 19175102 19175102 C G CLTCL1 Nonsynonymous SNV V1525L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 247608 chr8 100866185 100866185 A G rs398124326 VPS13B Nonsynonymous SNV Y3548C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.2 247609 chr19 5700818 5700818 G A rs143449778 LONP1 Synonymous SNV D300D 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 13.45 247610 chr8 10467561 10467561 C A RP1L1 Nonsynonymous SNV Q1349H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.893 247611 chr10 45959729 45959729 A G rs146266174 MARCHF8 Nonsynonymous SNV F67S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 17.97 247612 chr19 9088633 9088633 G T rs753476303 MUC16 Nonsynonymous SNV T1061N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 247613 chr22 22285662 22285662 C T rs754710375 PPM1F Nonsynonymous SNV R250Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.3 247614 chr19 9491886 9491886 C A rs754076458 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV F293L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 247615 chr7 16445689 16445689 G A rs376195897 CRPPA Synonymous SNV H177H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.68 247616 chr2 38302377 38302377 G A rs201824781 CYP1B1 Nonsynonymous SNV P52L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.3 247617 chr10 50121868 50121868 G A rs41283295 LRRC18 Synonymous SNV N111N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.652 247618 chr10 5138714 5138714 G A rs35961894 AKR1C3 Nonsynonymous SNV R66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.921 247619 chr19 11031793 11031793 G C rs777860668 CARM1 Synonymous SNV L535L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.96 247620 chr10 62645902 62645902 C T rs9665346 RHOBTB1 Nonsynonymous SNV G395R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.6 247621 chr2 55155592 55155592 C T rs200306471 EML6 Nonsynonymous SNV T1273I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 247622 chr10 63170452 63170452 C T TMEM26 Synonymous SNV L245L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.305 247623 chr10 63170453 63170453 A T TMEM26 Nonsynonymous SNV L245Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 247624 chr19 46289538 46289538 C T rs781251907 DMWD Nonsynonymous SNV E406K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 247625 chr19 13080720 13080720 C A rs140253089 DAND5 Nonsynonymous SNV D82E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 247626 chr19 14041191 14041191 C T CC2D1A Stop gain Q947X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 43 247627 chr2 64148448 64148448 T C rs199773679 VPS54 Synonymous SNV L575L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.196 247628 chr19 47978705 47978705 C T rs753702331 KPTN Nonsynonymous SNV G371S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.05 247629 chr19 15132683 15132683 C - rs568917459 CCDC105 Q402Rfs*151 0.001 0 0 0 1 0 0 0 0 0 0 0 247630 chr10 74912070 74912070 T C rs142804992 ECD Nonsynonymous SNV H298R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 247631 chr10 81680240 81680240 G A MBL1P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.397 247632 chr10 82329934 82329934 G T rs779183262 SH2D4B Nonsynonymous SNV W21L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 247633 chr2 97017678 97017678 C T rs146970496 NCAPH Nonsynonymous SNV P141L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 247634 chr5 173534463 173534463 C T rs1039448386 NSG2 Synonymous SNV A157A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 247635 chr8 145735791 145735791 G A MFSD3 Nonsynonymous SNV G244D 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 247636 chr22 50686394 50686394 A C rs35491456 HDAC10 Nonsynonymous SNV I401S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 247637 chr2 128065243 128065243 C T MAP3K2 Nonsynonymous SNV R591Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 247638 chr3 33118726 33118726 G A rs143443859 GLB1 Stop gain R27X 0 0 0 2 0 0 0.005 0 0 0 0 0 6.742 247639 chr3 108070711 108070711 G C HHLA2 Nonsynonymous SNV E41Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.551 247640 chr19 19646433 19646433 G A rs377616847 YJEFN3 Synonymous SNV A163A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.35 247641 chrX 2836015 2836015 G A rs41302625 ARSD Synonymous SNV T231T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.062 247642 chr2 136528149 136528149 T C UBXN4 Synonymous SNV I222I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.549 247643 chrX 13651160 13651160 C T rs373698462 EGFL6 Synonymous SNV G537G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 247644 chr19 29703849 29703849 G C UQCRFS1 Synonymous SNV A59A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.638 247645 chr19 31025802 31025802 T C ZNF536 Nonsynonymous SNV L740P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 247646 chr19 33200254 33200254 C T rs184454636 NUDT19 Nonsynonymous SNV P293L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 27.5 247647 chr3 11404374 11404374 A T ATG7 Nonsynonymous SNV M552L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.69 247648 chr19 34895337 34895337 T C rs185898814 PDCD2L Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 247649 chr2 158300424 158300424 C T rs1042038 CYTIP Nonsynonymous SNV D37N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 247650 chr11 104820302 104820302 G C CASP4 Nonsynonymous SNV P250R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 247651 chrX 49034492 49034492 G A rs782286061 PRICKLE3 Nonsynonymous SNV R201C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 247652 chrX 54275715 54275715 G A rs782286947 WNK3 Synonymous SNV G1022G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.045 247653 chrX 54956895 54956895 C T rs756330817 TRO Synonymous SNV S777S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 247654 chr2 170068686 170068686 G T rs886055085 LRP2 Nonsynonymous SNV N2024K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.42 247655 chr3 124413233 124413233 C G KALRN Nonsynonymous SNV T789R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 247656 chr3 124632444 124632444 A T rs757646115 MUC13 Nonsynonymous SNV L349Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 247657 chr11 117042341 117042341 A G rs749147417 PAFAH1B2 Nonsynonymous SNV K139E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.066 247658 chr11 117988070 117988070 G A rs756771698 TMPRSS4 Synonymous SNV V361V 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.43 247659 chr8 37732178 37732178 C T RAB11FIP1 Nonsynonymous SNV A493T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.597 247660 chr11 118527514 118527514 A G PHLDB1 Nonsynonymous SNV Y1314C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 247661 chrX 107393449 107393449 G A rs34691372 ATG4A Synonymous SNV T232T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.85 247662 chrX 107406256 107406256 A G rs35363062 COL4A6 Nonsynonymous SNV L1304P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.414 247663 chrX 107408222 107408222 C T rs34132805 COL4A6 Synonymous SNV S1261S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.8 247664 chrX 107414052 107414052 G A rs35179844 COL4A6 Nonsynonymous SNV P1125S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.07 247665 chr19 38865386 38865386 C A rs767639175 PSMD8 Synonymous SNV R49R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.4 247666 chr8 105160995 105160995 C T rs376427500 RIMS2 Nonsynonymous SNV R1060C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 20.3 247667 chrX 107909790 107909790 T G rs61735627 COL4A5 Synonymous SNV G1173G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.2 247668 chr11 120082112 120082112 A G rs752703302 OAF Nonsynonymous SNV Q42R 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 16.37 247669 chr19 39421333 39421333 C G rs773524954 SARS2 Nonsynonymous SNV R15P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.12 247670 chr3 130383854 130383854 C A rs765569965 COL6A6 Synonymous SNV I2170I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 247671 chrX 123654395 123654395 C A rs151041633 TENM1 Nonsynonymous SNV Q1091H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 247672 chr19 41239251 41239251 C T rs141373108 ITPKC Synonymous SNV F552F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 247673 chr3 58084486 58084486 A G rs145673747 FLNB Nonsynonymous SNV K399R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.34 247674 chr8 6690412 6690412 G A rs764875375 XKR5 Synonymous SNV T23T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.046 247675 chr19 41763469 41763469 C T rs117626938 AXL Synonymous SNV S488S 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 19.73 247676 chr3 62467433 62467433 C T rs768228836 CADPS Synonymous SNV S1046S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.5 247677 chr3 64589767 64589773 TGGGTGT - rs757494136 ADAMTS9 0 0 0 2 0 0 0.005 0 0 0 0 0 247678 chr3 66433635 66433635 C A LRIG1 Synonymous SNV V754V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 247679 chr19 59011880 59011880 C T SLC27A5 Nonsynonymous SNV R375Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 247680 chrX 153296694 153296694 G T MECP2 Synonymous SNV G207G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 247681 chr3 98002228 98002228 T C OR5H2 Nonsynonymous SNV V166A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 247682 chr11 126081523 126081523 G A rs140399413 RPUSD4 Nonsynonymous SNV P4L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.191 247683 chr8 141570513 141570513 G T rs140423429 AGO2 Synonymous SNV S205S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.59 247684 chr20 1285916 1285916 G A rs376994362 SNPH Nonsynonymous SNV G235S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 247685 chr11 129321212 129321212 G A rs34520023 BARX2 Nonsynonymous SNV R252H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 9.415 247686 chr11 129784904 129784904 C T PRDM10 Nonsynonymous SNV V760I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 247687 chr8 143857099 143857099 G A LYNX1, LYNX1-SLURP2 Synonymous SNV D22D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.5 247688 chr3 155861039 155861039 G A rs112461499 KCNAB1 Synonymous SNV S24S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 247689 chr3 158376836 158376836 C T rs149949638 GFM1 Synonymous SNV A250A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.01 247690 chr3 158386886 158386886 C T rs147759114 LXN Nonsynonymous SNV V136I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 247691 chr3 158428637 158428637 T C rs141864364 RARRES1 Nonsynonymous SNV N142S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 247692 chr2 202591483 202591483 G C ALS2 Nonsynonymous SNV P1029R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 247693 chr3 161221267 161221267 A G rs115236250 OTOL1 Nonsynonymous SNV K324R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 247694 chr8 144776171 144776171 C T rs114664141 ZNF707 Nonsynonymous SNV T160M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 247695 chr20 2641132 2641132 C T rs114253155 IDH3B Synonymous SNV K212K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.681 247696 chr8 144808763 144808763 G A rs181099241 FAM83H Synonymous SNV S956S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.466 247697 chr8 144897537 144897537 G C SCRIB Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.956 247698 chr2 207169638 207169638 A G rs113954798 ZDBF2 Nonsynonymous SNV Q129R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 0.126 247699 chr3 113955440 113955440 A G rs762407180 ZNF80 Nonsynonymous SNV F161S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.899 247700 chr8 144943384 144943384 G A rs189024404 EPPK1 Synonymous SNV L1346L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.304 247701 chr8 144945535 144945535 G A rs73715515 EPPK1 Synonymous SNV A629A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.482 247702 chr8 144947062 144947062 C T rs7819087 EPPK1 Synonymous SNV T120T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.338 247703 chr8 144990421 144990421 G T rs782566104 PLEC Nonsynonymous SNV S4509Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 247704 chr3 119112368 119112368 T C rs200813566 ARHGAP31 Synonymous SNV R312R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 1.311 247705 chr9 114412066 114412066 A G rs576951424 DNAJC25 Nonsynonymous SNV K275E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.26 247706 chr6 107031270 107031270 C T rs763626749 RTN4IP1 Nonsynonymous SNV R239H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 247707 chr3 172165639 172165639 C G GHSR Nonsynonymous SNV G189R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 247708 chr3 121386989 121386989 T C rs755051134 GOLGB1 Nonsynonymous SNV D3033G 0 0 0 2 0 0 0.005 0 0 0 0 0 26 247709 chr11 2439523 2439523 G A rs772192123 TRPM5 Synonymous SNV A260A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.286 247710 chr9 116186597 116186597 G A rs757203921 C9orf43 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 247711 chr9 117139035 117139035 C T rs552700642 AKNA Nonsynonymous SNV R232Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 247712 chr2 215840714 215840714 G T rs141343754 ABCA12 Nonsynonymous SNV L1408M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.995 247713 chr20 19662505 19662505 T C rs150933787 SLC24A3 Synonymous SNV Y257Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 247714 chr19 50139978 50139978 G A rs374077706 RRAS Synonymous SNV N117N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.74 247715 chr2 220088369 220088369 C T rs199801466 ATG9A Nonsynonymous SNV V513I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.13 247716 chr3 129297255 129297255 T C rs112755880 PLXND1 Nonsynonymous SNV T755A 0.002 0.003 0.003 4 2 1 0.01 1 0 0 0 0 Likely benign 13.46 247717 chr3 129389217 129389217 C T rs146919661 TMCC1 Synonymous SNV R316R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.43 247718 chr20 33570263 33570263 G A rs760931526 MYH7B Nonsynonymous SNV G219R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 247719 chr3 130743327 130743327 T C rs139642078 ASTE1 Nonsynonymous SNV N275S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.049 247720 chr3 196050960 196050960 C T rs183370227 TM4SF19-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.226 247721 chr2 224831702 224831702 C T rs983989352 MRPL44 Nonsynonymous SNV S317F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 247722 chr3 196735571 196735571 G A rs559164450 MELTF Synonymous SNV D569D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.918 247723 chr3 133647587 133647587 C T C3orf36 0 0 0 2 0 0 0.005 0 0 0 0 0 17.44 247724 chr20 35828878 35828878 C T rs201366903 RPN2 Nonsynonymous SNV R170C 0 0.003 0 0 0 1 0 0 0 0 0 0 3.876 247725 chr19 52658965 52658965 - CGATGA rs766206132 ZNF836 R657_K658insHR 0.002 0 0 1 2 0 0.003 0 0 0 0 0 247726 chr2 231067305 231067305 C G rs7606916 SP110 Synonymous SNV S346S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.463 247727 chr20 37634873 37634873 C T rs199985100 DHX35 Stop gain R335X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 247728 chr3 3084733 3084733 A G CNTN4 Nonsynonymous SNV T533A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.179 247729 chr8 23386650 23386650 G C SLC25A37 Synonymous SNV V45V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.063 247730 chr2 233322818 233322818 C T rs371224192 ALPI Nonsynonymous SNV R323C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 247731 chr2 233407701 233407701 G T rs17838626 CHRNG Nonsynonymous SNV Q238H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25.6 247732 chr2 233671277 233671277 G A rs114498122 GIGYF2 Synonymous SNV A566A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 247733 chr2 234737275 234737275 G C rs52820200 MROH2A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.8 247734 chr19 54664754 54664754 G A rs756253894 TMC4 Nonsynonymous SNV L618F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.7 247735 chr20 47688957 47688957 A G rs61748374 CSE1L Synonymous SNV L301L 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 5.496 247736 chr2 234854506 234854506 T G TRPM8 Nonsynonymous SNV F236V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 247737 chr8 3072060 3072060 T C rs201547302 CSMD1 Nonsynonymous SNV D1609G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.5 247738 chr8 36703178 36703178 A C rs371296183 KCNU1 Nonsynonymous SNV D595A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 247739 chr19 56320272 56320272 A C rs778920516 NLRP11 Synonymous SNV V469V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 247740 chr3 46501224 46501224 C A rs996295966 LTF Nonsynonymous SNV R43S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.23 247741 chr3 49020380 49020380 A C ARIH2 Nonsynonymous SNV K318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29 247742 chr20 62196536 62196536 C T rs139795248 HELZ2 Synonymous SNV P644P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 247743 chr19 57642575 57642575 T C rs61757571 USP29 Synonymous SNV D844D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.414 247744 chr21 31964824 31964874 TGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTGTGGTTATGGCGGCTG - KRTAP6-3 C32_G48del 0 0.003 0 0 0 1 0 0 0 0 0 0 247745 chr3 56667246 56667246 T A rs140396487 TASOR Synonymous SNV T754T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.314 247746 chr2 42528414 42528414 A G rs143911025 EML4 Nonsynonymous SNV H450R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 247747 chr20 1629980 1629980 T C SIRPG Nonsynonymous SNV T50A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.81 247748 chr3 58519728 58519728 C T rs767919668 ACOX2 Synonymous SNV L156L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 247749 chr10 70967597 70967597 C T rs201773412 SUPV3L1 Nonsynonymous SNV R280C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 247750 chr10 72538394 72538394 T C rs200536888 TBATA 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 247751 chr11 5862457 5862457 T C rs147386444 OR52E6 Nonsynonymous SNV Y224C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 247752 chr11 5878167 5878167 A C rs144607247 OR52E8 Nonsynonymous SNV F256V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 247753 chr3 9974976 9974976 T C rs201296441 IL17RC Nonsynonymous SNV L568S 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 19.86 247754 chr11 5922791 5922791 G A rs112500834 OR52E5 Nonsynonymous SNV R266H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 247755 chr20 17639597 17639597 C T rs773900073 RRBP1 Nonsynonymous SNV G519D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.515 247756 chr20 19566128 19566128 G A rs751843327 SLC24A3 Synonymous SNV V184V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.25 247757 chr2 71825707 71825707 C T rs79899601 DYSF Synonymous SNV I1164I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.09 247758 chr11 61031992 61031992 G A rs60854777 VWCE Synonymous SNV L733L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.263 247759 chr11 61258034 61258034 - A rs141761611 PPP1R32 Frameshift insertion H404Qfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 247760 chr9 125673941 125673943 GTT - ZBTB6 N137del 0.001 0 0 0 1 0 0 0 0 0 0 0 247761 chr11 615193 615193 C T rs140293843 IRF7 Synonymous SNV G42G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.54 247762 chr9 126125364 126125364 C A rs149815227 CRB2 Stop gain C105X 0.004 0 0 0 5 0 0 0 0 0 0 0 33 247763 chr11 62289241 62289241 G T rs144527043 AHNAK Nonsynonymous SNV D4216E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 247764 chr4 122681474 122681474 G A rs753454519 TMEM155 Nonsynonymous SNV A97V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.7 247765 chr9 127994959 127994960 AT - rs777035658 RABEPK H203Rfs*30 0.004 0 0 0 5 0 0 0 0 0 0 0 247766 chrX 100169803 100169803 C T rs746378941 XKRX Nonsynonymous SNV G292S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 247767 chr9 130279434 130279434 C T rs942990871 NIBAN2 Nonsynonymous SNV R243Q 0.004 0 0 0 5 0 0 0 0 0 0 0 33 247768 chr9 130529474 130529474 G A rs775588115 SH2D3C Nonsynonymous SNV P6L 0.005 0 0 0 6 0 0 0 0 0 0 0 6.241 247769 chr6 82924124 82924124 T C rs745581307 IBTK Nonsynonymous SNV E675G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.683 247770 chr11 65272859 65272859 T G rs764957157 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.295 247771 chr4 48993491 48993491 G T rs375072228 CWH43 Nonsynonymous SNV A59S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25 247772 chr4 15005347 15005347 - GGCGGC rs528354251 CPEB2 G360_P361insGG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 247773 chr6 84925149 84925149 G A rs189673325 CEP162 Synonymous SNV L42L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.135 247774 chr20 45317777 45317777 G A rs763873209 TP53RK Nonsynonymous SNV R93C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 247775 chr22 24563054 24563059 GCCCCC - rs752261887 CABIN1 P1774_A1775del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 247776 chr7 100027928 100027928 G A MEPCE Nonsynonymous SNV G96E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 247777 chr20 49620927 49620927 G T rs200952881 KCNG1 Synonymous SNV V397V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.073 247778 chr22 29661495 29661495 G C rs375572088 RHBDD3 Nonsynonymous SNV P41A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 247779 chr11 69924735 69924735 C G rs757351269 ANO1 Nonsynonymous SNV S8W 0 0 0.007 0 0 0 0 2 0 0 0 0 30 247780 chrX 22291860 22291860 C T rs141246738 CBLL2 Nonsynonymous SNV A251V 0 0.008 0 0 0 3 0 0 0 1 0 0 3.182 247781 chr22 32206512 32206512 G A rs201394709 DEPDC5 Nonsynonymous SNV G416R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 23 247782 chr11 71783293 71783293 A C rs866223148 MIR3165 0 0 0.007 0 0 0 0 2 0 0 0 0 9.528 247783 chr11 73686548 73686548 G C rs45490393 UCP2 Nonsynonymous SNV A268G 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 24 247784 chr11 73687738 73687738 C T rs45600039 UCP2 Synonymous SNV L194L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.42 247785 chr11 73689041 73689041 C T rs45541732 UCP2 Nonsynonymous SNV R76Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 20.4 247786 chr11 108381304 108381304 G T rs773368892 EXPH5 Nonsynonymous SNV P1456T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.343 247787 chr11 7717257 7717257 C T rs3925028 OVCH2 Nonsynonymous SNV G381E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 247788 chrX 54824572 54824572 T A ITIH6 Synonymous SNV G24G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.189 247789 chrX 56590801 56590801 T A UBQLN2 Synonymous SNV S165S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 247790 chr11 78383261 78383261 C A rs753060104 TENM4 Synonymous SNV R1870R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 247791 chr4 1906080 1906080 C G rs138425616 NSD2 Synonymous SNV L245L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.25 247792 chr7 105254612 105254612 G A rs80023488 ATXN7L1 Synonymous SNV P599P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.989 247793 chr4 122254142 122254142 G C rs139685422 QRFPR Nonsynonymous SNV Q211E 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 17.78 247794 chr3 1427397 1427397 A G rs149631038 CNTN6 Nonsynonymous SNV I770V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.105 247795 chr4 152498752 152498752 G A FAM160A1 Nonsynonymous SNV G86R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 247796 chr12 105568139 105568139 C T rs149610989 APPL2 Nonsynonymous SNV D656N 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 14 247797 chr3 148768054 148768054 A G rs367890191 HLTF Synonymous SNV L527L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.022 247798 chr3 151154882 151154882 G A rs771272861 IGSF10 Synonymous SNV G516G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.811 247799 chrX 12904282 12904282 G A rs149314023 TLR7 Nonsynonymous SNV V219I 0.002 0.003 0 0 2 1 0 0 1 0 0 0 Benign 5.934 247800 chr12 109306353 109306353 G A rs117526594 SVOP Synonymous SNV H482H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.771 247801 chr9 8404590 8404590 T A PTPRD Nonsynonymous SNV Y979F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 247802 chr12 109874345 109874345 - A rs986844075 MYO1H Frameshift insertion R718Kfs*35 0 0 0.003 0 0 0 0 1 0 0 0 0 247803 chr9 91793048 91793048 C G rs867977331 SHC3 Nonsynonymous SNV G110R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.588 247804 chrX 23724798 23724798 G A rs149412949 ACOT9 Synonymous SNV S194S 0.002 0.003 0 0 2 1 0 0 1 0 0 0 12.08 247805 chrX 29414483 29414483 C T IL1RAPL1 Synonymous SNV S157S 0.002 0.003 0 0 2 1 0 0 1 0 0 0 11.28 247806 chr21 46876530 46876530 C T rs763605809 COL18A1 Synonymous SNV S362S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.519 247807 chr21 46929357 46929357 G A rs746120970 COL18A1 Nonsynonymous SNV A1290T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 247808 chrX 43656404 43656404 T C rs988819611 MAOB Nonsynonymous SNV T196A 0.002 0.003 0 0 2 1 0 0 1 0 0 0 0.013 247809 chrX 53448866 53448866 T G SMC1A Nonsynonymous SNV T8P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.554 247810 chr11 129746785 129746785 A G rs138523692 NFRKB Synonymous SNV R551R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.796 247811 chr11 129780494 129780494 A T rs147100201 PRDM10 Nonsynonymous SNV S881T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 15.64 247812 chrX 54956374 54956403 GTCAGCACCAGTGCCAGCTTCAGTGGTGCT - rs772638707 TRO S609_A618del 0 0.008 0 2 0 3 0.005 0 0 1 0 0 247813 chr12 122614501 122614501 T C rs754046093 MLXIP Nonsynonymous SNV L251P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.209 247814 chrX 144904780 144904780 C T rs144797253 SLITRK2 Synonymous SNV D279D 0.002 0 0.007 0 2 0 0 2 1 0 1 0 3.218 247815 chr11 17544812 17544812 A T rs769539248 USH1C Synonymous SNV A274A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.25 247816 chr4 8608509 8608509 A G CPZ Nonsynonymous SNV N307D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 247817 chr3 190993044 190993044 G A rs16866426 UTS2B Stop gain R111X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 37 247818 chr12 130184594 130184594 G A rs76591377 TMEM132D Synonymous SNV D243D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.11 247819 chr3 194373592 194373592 G A rs114485048 LSG1 Nonsynonymous SNV R347W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 23.7 247820 chr7 21600738 21600738 A G rs199579217 DNAH11 Nonsynonymous SNV Q311R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.335 247821 chr1 67447529 67447529 C G rs758337482 MIER1 Nonsynonymous SNV P380A 0 0 0 2 0 0 0.005 0 0 0 0 0 24 247822 chr12 1949941 1949941 C A rs756604812 CACNA2D4 Nonsynonymous SNV A839S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 247823 chr12 20868100 20868100 T G rs746148843 SLCO1C1 Nonsynonymous SNV M68R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 247824 chr12 27933451 27933451 G A rs768601735 KLHL42 Nonsynonymous SNV R63Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 247825 chr12 2912361 2912361 G T FKBP4 Nonsynonymous SNV E439D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 247826 chr5 1213581 1213581 G A rs747952308 SLC6A19 Nonsynonymous SNV V223M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 247827 chr1 879306 879306 C G SAMD11 Nonsynonymous SNV R607G 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 26.7 247828 chr1 89652045 89652045 G C GBP4 Nonsynonymous SNV H560D 0 0 0 2 0 0 0.005 0 0 0 0 0 11.27 247829 chr10 101165952 101165952 C T rs146049867 GOT1 Nonsynonymous SNV R160H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 247830 chr22 37540187 37540187 C T rs147593802 IL2RB Nonsynonymous SNV R9H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.535 247831 chr3 42251620 42251620 G A TRAK1 Synonymous SNV E628E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.57 247832 chr12 49427108 49427108 G A rs113997424 KMT2D Nonsynonymous SNV P3794S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.65 247833 chr3 45160089 45160089 C T rs777920511 CDCP1 Nonsynonymous SNV R36Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.967 247834 chr22 41077876 41077876 G A MCHR1 Nonsynonymous SNV A405T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.874 247835 chr22 42276857 42276857 G A rs142713090 SREBF2 Synonymous SNV L633L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 247836 chr20 13868479 13868479 C T rs755645284 SEL1L2 Synonymous SNV S227S 0 0 0 2 0 0 0.005 0 0 0 0 0 16.96 247837 chr3 46718197 46718197 C T ALS2CL Nonsynonymous SNV E655K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.12 247838 chr12 52680176 52680176 C T rs752055470 KRT81 Nonsynonymous SNV V461M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 247839 chr10 116605166 116605166 C T rs767925348 FAM160B1 Nonsynonymous SNV P352S 0.003 0 0 0 3 0 0 0 0 0 0 0 20.6 247840 chr10 116605167 116605167 C T rs750707601 FAM160B1 Nonsynonymous SNV P352L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 247841 chr22 45130967 45130967 A G PRR5 Nonsynonymous SNV K111E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 247842 chr1 9324559 9324559 C T rs138826806 H6PD Synonymous SNV G680G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 247843 chr10 118609118 118609118 G C rs555277881 ENO4 Nonsynonymous SNV R14T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 247844 chr7 75614132 75614132 G A rs150414675 POR Synonymous SNV T368T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.35 247845 chr12 53709559 53709559 C A rs766985003 AAAS Nonsynonymous SNV V87L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.51 247846 chr12 53709560 53709560 A T rs749899811 AAAS Nonsynonymous SNV D86E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.81 247847 chr5 150646302 150646302 T G rs143999954 GM2A Nonsynonymous SNV V85G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.07 247848 chr12 56119990 56119990 G A rs11574657 CD63 Nonsynonymous SNV S161L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 247849 chr10 129907305 129907305 C T MKI67 Synonymous SNV K573K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.02 247850 chr5 153429450 153429450 G A rs747977002 MFAP3 Synonymous SNV S56S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 247851 chr5 115831962 115831962 C A SEMA6A Nonsynonymous SNV M109I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 247852 chr12 58004404 58004404 C A rs201016615 ARHGEF25 Nonsynonymous SNV R51S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 247853 chrX 18198727 18198727 C T BEND2 Synonymous SNV T353T 0.003 0 0 0 3 0 0 0 1 0 0 0 9.922 247854 chr12 65139472 65139472 G A rs773419903 GNS Synonymous SNV H164H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.782 247855 chr3 9470634 9470634 A G rs373289671 SETD5 Synonymous SNV A4A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.2 247856 chr1 22055176 22055176 T C rs141036007 USP48 Nonsynonymous SNV K446R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.3 247857 chr3 9784769 9784769 G A rs375326393 BRPF1 Nonsynonymous SNV A715T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 247858 chr5 169141093 169141093 A G rs776981079 DOCK2 Nonsynonymous SNV H574R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 247859 chr5 171639123 171639123 A G UBTD2 Nonsynonymous SNV L139P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 247860 chr3 9982635 9982635 G A rs371891133 CRELD1 Nonsynonymous SNV G188R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.32 247861 chrX 71427590 71427590 C G rs200073614 ERCC6L Nonsynonymous SNV A343P 0.002 0 0 2 2 0 0.005 0 1 0 0 1 0.011 247862 chr10 3182914 3182914 G T PITRM1 Synonymous SNV L814L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.525 247863 chr12 91449949 91449949 A G rs377616201 KERA Nonsynonymous SNV I37T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 247864 chr12 94975829 94975829 C T rs149007412 TMCC3 Nonsynonymous SNV M157I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.297 247865 chr1 33149667 33149667 A C SYNC Nonsynonymous SNV L461R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.8 247866 chr1 33361228 33361228 A G rs79980208 TMEM54 Synonymous SNV A109A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.722 247867 chr1 33562416 33562416 G T rs16835244 AZIN2 Nonsynonymous SNV A193S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 29 247868 chrX 150842445 150842445 A G PASD1 Synonymous SNV P654P 0.003 0 0 0 3 0 0 0 1 0 0 0 0.016 247869 chr1 34123700 34123700 C T rs117484104 CSMD2 Synonymous SNV P1431P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.35 247870 chr5 36608592 36608592 C T rs11543905 SLC1A3 Nonsynonymous SNV R23C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 247871 chr8 144547950 144547950 G A rs534287410 ZC3H3 Synonymous SNV Y748Y 0.003 0 0 0 4 0 0 0 0 0 0 0 9.604 247872 chr13 109793156 109793156 C G MYO16 Synonymous SNV P1532P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.565 247873 chr10 5772809 5772809 G C TASOR2 Nonsynonymous SNV E283Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 247874 chr13 114203809 114203809 A G rs142845599 TMCO3 Nonsynonymous SNV N498S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.054 247875 chr8 144900059 144900059 C T PUF60 Nonsynonymous SNV G218S 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 247876 chr20 62197020 62197020 G A rs367562440 HELZ2 Nonsynonymous SNV T483M 0 0 0 2 0 0 0.005 0 0 0 0 0 18.77 247877 chr5 5464163 5464163 G A rs147523136 ICE1 Synonymous SNV A1572A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.976 247878 chr10 64565249 64565249 C T rs576932938 ADO Nonsynonymous SNV P144S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 247879 chr13 25281294 25281294 A G ATP12A Nonsynonymous SNV D774G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 247880 chr8 145001900 145001900 G A rs200672373 PLEC Nonsynonymous SNV T1131M 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 15.86 247881 chr13 25745704 25745704 T C rs752386259 AMER2 Synonymous SNV G18G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.139 247882 chr5 60831312 60831312 C T rs766905651 ZSWIM6 Synonymous SNV A749A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 247883 chr8 145060138 145060138 C T rs782039077 PARP10 Nonsynonymous SNV E75K 0.003 0 0 0 4 0 0 0 0 0 0 0 6.144 247884 chr13 31216885 31216885 A G USPL1 Nonsynonymous SNV Y39C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 247885 chr5 6737747 6737750 GTGA - rs778563360 TENT4A 0.001 0 0 0 1 0 0 0 0 0 0 0 247886 chr5 74325519 74325519 G C rs770451145 GCNT4 Nonsynonymous SNV T115S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 247887 chr10 75559817 75559817 C A rs755891613 ZSWIM8 Nonsynonymous SNV P1567T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.626 247888 chr13 46840896 46840896 A T LRRC63 Nonsynonymous SNV N447Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 247889 chr8 17872157 17872157 A T rs750348316 PCM1 Nonsynonymous SNV L1820F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 247890 chr13 49281337 49281337 C A rs764862659 CYSLTR2 Nonsynonymous SNV F128L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 247891 chr8 1824880 1824880 C T rs761105475 ARHGEF10 Nonsynonymous SNV R276C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 247892 chr10 8006793 8006793 G C rs201095393 TAF3 Synonymous SNV A440A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 247893 chr4 17841404 17841404 G A rs140475750 NCAPG Nonsynonymous SNV E858K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 247894 chr4 183594193 183594193 A G rs948817499 TENM3 Nonsynonymous SNV I383V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 247895 chr13 73320799 73320799 T C rs763728072 BORA Synonymous SNV Y293Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.447 247896 chr13 88328531 88328531 G A rs551991029 SLITRK5 Synonymous SNV P296P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.901 247897 chr4 187209733 187209733 G A rs202061241 F11 Nonsynonymous SNV V615M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.39 247898 chr6 26123989 26123989 C T rs61742483 H2BC4 Synonymous SNV Q48Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 2.907 247899 chr6 26157224 26157224 G A rs147799648 H1-4 Synonymous SNV K202K 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.394 247900 chr6 26234797 26234797 T C rs150694983 H1-3 Nonsynonymous SNV K122R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 9.037 247901 chr6 109771274 109771274 C A MICAL1 Synonymous SNV L316L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 247902 chr4 44684396 44684396 G A rs200347842 GUF1 Nonsynonymous SNV A185T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 247903 chr8 68419039 68419039 G C rs35993949 CPA6 Nonsynonymous SNV Q207E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 247904 chr8 77761840 77761840 C T rs61729526 ZFHX4 Synonymous SNV I1246I 0.001 0 0.017 0 1 0 0 5 0 0 0 0 Benign 15.23 247905 chr8 77766563 77766563 C T rs61729528 ZFHX4 Nonsynonymous SNV P2469L 0.001 0 0.017 0 1 0 0 5 0 0 0 0 Benign 24.4 247906 chr6 129775417 129775417 C T rs374815503 LAMA2 Nonsynonymous SNV R2231C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 247907 chr14 23547442 23547442 C G rs751261677 ACIN1 Nonsynonymous SNV E699Q 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22 247908 chr6 136871497 136871497 G A rs773537487 MAP7 Nonsynonymous SNV A17V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.967 247909 chr11 108043859 108043859 A G rs371916761 NPAT Nonsynonymous SNV S618P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 3.338 247910 chr6 143771708 143771708 T C rs748747895 ADAT2 Nonsynonymous SNV M30V 0.002 0.005 0 0 2 2 0 0 0 0 0 0 20.3 247911 chr10 47087456 47087456 C T NPY4R, NPY4R2 Nonsynonymous SNV L225F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.522 247912 chr11 108172459 108172459 G T rs748900588 ATM Nonsynonymous SNV K1754N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.4 247913 chr6 43018995 43018995 T C rs530536356 CUL7 Nonsynonymous SNV Q399R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 247914 chr6 150147438 150147438 C T rs747665356 LRP11 Nonsynonymous SNV G437D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.725 247915 chr11 93141542 93141542 C A rs542672676 DEUP1 Nonsynonymous SNV T491K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.408 247916 chr14 53119875 53119875 C T rs143610986 ERO1A Nonsynonymous SNV E323K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 247917 chr9 114982647 114982647 G A rs769727583 PTBP3 Synonymous SNV L483L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.937 247918 chr14 60622832 60622832 C G DHRS7 Nonsynonymous SNV A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 247919 chr4 8465768 8465768 C T rs749763146 TRMT44 Synonymous SNV I179I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 247920 chr6 51484160 51484160 A G PKHD1 Nonsynonymous SNV C3982R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 247921 chr9 124536601 124536601 C T rs138505036 DAB2IP Synonymous SNV N886N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 247922 chr6 55659078 55659078 A G BMP5 Synonymous SNV D277D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.95 247923 chr10 72293702 72293702 C T rs144523160 PALD1 Nonsynonymous SNV R299C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.11 247924 chr11 123810604 123810604 T C rs147571926 OR4D5 Nonsynonymous SNV F94S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 247925 chr10 79552204 79552204 C A rs148200124 DLG5 Synonymous SNV P1918P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 247926 chr1 155450713 155450713 G A rs200142426 ASH1L Nonsynonymous SNV L650F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 247927 chr10 79784351 79784351 T C rs377131755 POLR3A Nonsynonymous SNV I201V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.711 247928 chr6 74351518 74351518 A C SLC17A5 Nonsynonymous SNV F141V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.061 247929 chr12 11420589 11420589 T C rs11054205 PRB3 Synonymous SNV P198P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.03 247930 chr11 125769906 125769906 C T rs200189008 HYLS1 Nonsynonymous SNV R215W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 247931 chr6 20402594 20402594 - CGCCGC E2F3 A53_P54insAA 0.002 0 0 0 2 0 0 0 0 0 0 0 247932 chr22 50020526 50020526 A C C22orf34 Nonsynonymous SNV V6G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.316 247933 chr10 93021103 93021103 T C rs191760973 PCGF5 Synonymous SNV I165I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.337 247934 chr6 24600854 24600854 C T rs565463714 KIAA0319 Synonymous SNV P7P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.034 247935 chr11 130319035 130319035 A G rs370618159 ADAMTS15 Nonsynonymous SNV Q56R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.707 247936 chr5 125887819 125887819 C T rs771975420 ALDH7A1 Nonsynonymous SNV R340H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 247937 chr6 106960576 106960576 G T rs780462057 CRYBG1 Synonymous SNV P120P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.826 247938 chr1 159825770 159825770 C T rs754225537 VSIG8 Nonsynonymous SNV G292R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.05 247939 chr15 101094405 101094405 G A rs144201272 PRKXP1 0 0 0.024 0 0 0 0 7 0 0 0 0 4.992 247940 chr1 161129503 161129503 G T USP21 Nonsynonymous SNV G5W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.88 247941 chr15 101565017 101565017 G A rs201243082 LRRK1 Nonsynonymous SNV V693M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 247942 chr5 139928551 139928551 G A rs372215004 ANKHD1-EIF4EBP3, EIF4EBP3 Nonsynonymous SNV R55Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 247943 chr6 35763598 35763598 C T rs771885099 CLPS Synonymous SNV Q39Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 247944 chr15 33895331 33895331 C T RYR3 Nonsynonymous SNV P644S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 247945 chr6 39158873 39158873 G A rs144931567 KCNK5 Synonymous SNV D431D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.179 247946 chr6 41248858 41248858 G A rs369692442 TREM1 Nonsynonymous SNV S147F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 247947 chr5 140784619 140784619 C A rs182635391 PCDHGA9 Synonymous SNV V700V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.92 247948 chr11 34152973 34152973 C A rs146685334 NAT10 Nonsynonymous SNV A400D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 247949 chr6 43469295 43469295 C T rs138122245 TJAP1 Nonsynonymous SNV R54W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 247950 chr6 44329579 44329579 C T rs145942181 SPATS1 Nonsynonymous SNV R142C 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 35 247951 chr11 4389408 4389408 C T rs766592298 OR52B4 Nonsynonymous SNV A40T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.587 247952 chr15 43499536 43499536 A G EPB42 Synonymous SNV C423C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 247953 chr11 45241135 45241135 C G rs144135078 PRDM11 Nonsynonymous SNV S190C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 247954 chr1 197021818 197021818 A G rs1017078041 F13B Synonymous SNV L501L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.963 247955 chr1 201175299 201175299 G C rs1033175512 IGFN1 Synonymous SNV G426G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.148 247956 chr15 54008816 54008816 G T WDR72 Nonsynonymous SNV H109Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 247957 chr1 201779190 201779190 T G rs145643487 NAV1 Synonymous SNV P1112P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.502 247958 chr6 56484127 56484127 C A DST Nonsynonymous SNV A1569S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.577 247959 chr6 64395222 64395222 T C rs749766093 PHF3 Synonymous SNV D445D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.017 247960 chr6 70637913 70637913 A G rs749196978 COL19A1 Nonsynonymous SNV N127D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.84 247961 chr15 64005672 64005672 C T rs1034621276 HERC1 Nonsynonymous SNV R1448Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 247962 chr11 118502031 118502031 A G rs373419516 PHLDB1 Synonymous SNV A645A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.131 247963 chr15 67234307 67234307 C T rs147633426 LINC02206 0 0 0.01 0 0 0 0 3 0 0 0 0 6.996 247964 chr11 119291039 119291039 T C rs202221625 THY1 Nonsynonymous SNV Q32R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 247965 chr15 69238735 69238735 C T rs149824359 SPESP1 Stop gain R288X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 247966 chr9 8389328 8389328 T A rs117049052 PTPRD Synonymous SNV G1023G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.01 247967 chr15 72500970 72500970 C T rs757726621 PKM Synonymous SNV G202G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 247968 chr7 6476037 6476037 G C rs201822562 DAGLB Nonsynonymous SNV C125W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 247969 chr7 11487039 11487039 C T rs373283536 THSD7A Nonsynonymous SNV R873H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 247970 chr15 77025723 77025723 T C SCAPER Synonymous SNV V377V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 247971 chr9 98231108 98231108 G T PTCH1 Synonymous SNV P673P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.747 247972 chr7 14880851 14880851 G A rs747038198 DGKB Nonsynonymous SNV S13L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 247973 chr15 79186409 79186409 G C rs146848001 MORF4L1 Synonymous SNV A125A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 247974 chr15 79214493 79214493 G A rs374155645 CTSH Synonymous SNV S329S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.814 247975 chr15 79229691 79229691 G A rs144057694 CTSH Synonymous SNV N66N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.643 247976 chr1 223402609 223402609 G A rs778161171 SUSD4 Synonymous SNV S282S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 247977 chr11 134048539 134048539 G T NCAPD3 Synonymous SNV I786I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 247978 chr11 16807800 16807800 G A rs57827972 PLEKHA7 Synonymous SNV D1164D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.45 247979 chr11 55419073 55419073 C T rs114634058 OR4S2 Nonsynonymous SNV R232C 0.002 0 0 0 2 0 0 0 0 0 0 0 24 247980 chr5 36038054 36038054 C A rs749801006 UGT3A2 Nonsynonymous SNV Q346H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 247981 chr5 37108411 37108411 T C rs917196481 CPLANE1 Nonsynonymous SNV H3134R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.087 247982 chr15 91420785 91420785 G T FURIN Nonsynonymous SNV A203S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28 247983 chr1 235392565 235392565 T C rs35560967 ARID4B Nonsynonymous SNV D293G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 247984 chr16 10274209 10274209 A G rs367543130 GRIN2A Synonymous SNV G20G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.149 247985 chr7 100684798 100684798 C T MUC17 Synonymous SNV T3367T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.547 247986 chr7 102937989 102937989 G A rs749629917 PMPCB Nonsynonymous SNV R28Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 247987 chr5 66300831 66300831 T C MAST4 Nonsynonymous SNV S4P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 247988 chr16 1506165 1506165 C T CLCN7 Nonsynonymous SNV V265I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 247989 chr16 1822946 1822946 G T MRPS34 Nonsynonymous SNV R59S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 247990 chr7 76889503 76889503 C T rs374348160 CCDC146 Synonymous SNV V312V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.27 247991 chrX 48558908 48558908 G A rs138943174 SUV39H1 Nonsynonymous SNV A209T 0.003 0 0 0 3 0 0 0 1 0 0 0 14.64 247992 chr16 23698863 23698863 C T rs143460301 PLK1 Synonymous SNV V370V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 247993 chr5 79032826 79032826 G A rs199952708 CMYA5 Synonymous SNV V2746V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.409 247994 chr16 2550418 2550418 C T rs756651679 TBC1D24 Synonymous SNV A478A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.04 247995 chr16 2580902 2580902 G A rs757714540 CEMP1 Nonsynonymous SNV A58V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.024 247996 chr7 92000799 92000799 G A rs890179785 ANKIB1 Nonsynonymous SNV V499I 0 0 0 1 0 0 0.003 0 0 0 0 0 29 247997 chr2 8910846 8910846 T C rs774557577 KIDINS220 Nonsynonymous SNV T990A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 247998 chr5 82837270 82837270 A T rs377044108 VCAN Synonymous SNV T1829T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 247999 chr5 82837741 82837741 G T rs145612319 VCAN Nonsynonymous SNV Q1986H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.82 248000 chrX 85403662 85403662 C T rs770099868 DACH2 Nonsynonymous SNV S13F 0.003 0 0 0 3 0 0 0 1 0 0 0 26.3 248001 chr7 139257984 139257984 G A HIPK2 Nonsynonymous SNV L1069F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 248002 chr5 89999524 89999524 G T ADGRV1 Nonsynonymous SNV R2733L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.93 248003 chr7 13975400 13975400 G A rs376556632 ETV1 Nonsynonymous SNV R105W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 248004 chr16 309592 309592 G A rs535395081 FAM234A Nonsynonymous SNV D127N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 248005 chr16 31143758 31143758 C T rs768072440 PRSS8 Nonsynonymous SNV A233T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 248006 chr11 57003481 57003481 C A rs140133715 APLNR Nonsynonymous SNV G333V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 248007 chr16 31927221 31927221 A G rs772346336 ZNF267 Nonsynonymous SNV K551E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 248008 chr10 101982686 101982686 A C CHUK Nonsynonymous SNV N84K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.543 248009 chr7 142566772 142566772 C T EPHB6 Nonsynonymous SNV R485W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 248010 chr10 102783196 102783196 G A rs372004783 PDZD7 Nonsynonymous SNV T180M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 248011 chr2 21228298 21228298 G A rs72654408 APOB Synonymous SNV T3814T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.77 248012 chr16 46534199 46534199 G T rs556346941 ANKRD26P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.366 248013 chr16 46534652 46534652 C T rs112527425 ANKRD26P1 0 0 0.014 0 0 0 0 4 0 0 1 0 6.073 248014 chr7 143771772 143771772 T C rs372084976 OR2A25 Synonymous SNV L154L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 248015 chr16 50263067 50263067 G T rs768564784 TENT4B Nonsynonymous SNV G657V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 248016 chr2 26667779 26667779 C T rs77226260 DRC1 Synonymous SNV S453S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 9.211 248017 chr6 112508745 112508745 G A rs141611768 LAMA4 Synonymous SNV I291I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.474 248018 chr2 23916386 23916386 G A rs776198828 KLHL29 Synonymous SNV A510A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.84 248019 chr10 121598190 121598190 A G rs933462887 MCMBP Nonsynonymous SNV I422T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 248020 chr13 51929228 51929228 G A rs182389934 SERPINE3 Nonsynonymous SNV G317R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.3 248021 chr7 193625 193625 C T rs777933402 FAM20C Synonymous SNV D142D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.364 248022 chr16 70512462 70512462 G C rs370345204 FCSK Synonymous SNV L946L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.318 248023 chr2 42180351 42180351 C T rs547170116 C2orf91 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 248024 chr2 24261130 24261130 G A rs143333285 WDCP Nonsynonymous SNV T412I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 248025 chr6 131486354 131486354 A G AKAP7 Nonsynonymous SNV N142S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 248026 chr10 127422742 127422742 G A rs374630103 EDRF1 Nonsynonymous SNV R462K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 248027 chr7 102715805 102715805 G A ARMC10 Nonsynonymous SNV R29Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 248028 chr6 135715970 135715970 T G rs6940875 AHI1 Nonsynonymous SNV Q1018P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 22.9 248029 chr16 771807 771807 G C ANTKMT Nonsynonymous SNV A92P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 248030 chr16 81957106 81957106 A G rs142825971 PLCG2 Nonsynonymous SNV K775R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 248031 chr7 128369954 128369954 A G FAM71F1 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 248032 chr7 31912977 31912977 G A PDE1C Synonymous SNV A179A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.89 248033 chr2 73519676 73519676 A T rs141704795 EGR4 Nonsynonymous SNV S124T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 248034 chr16 87743146 87743146 T G rs774159926 KLHDC4 Nonsynonymous SNV E334A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 248035 chr11 67810963 67810963 C T rs372826788 TCIRG1 Nonsynonymous SNV T210M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 248036 chr2 74042973 74042973 C T rs373917345 C2orf78 Synonymous SNV S541S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.071 248037 chr6 155632452 155632452 C T rs747891843 TFB1M Nonsynonymous SNV G52D 0 0 0 1 0 0 0.003 0 0 0 0 0 32 248038 chr16 88500367 88500367 G A rs572299080 ZNF469 Synonymous SNV Q2163Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.209 248039 chr6 158569918 158569918 T A rs375547220 SERAC1 Nonsynonymous SNV I112L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.074 248040 chr7 140227202 140227202 G C rs764413244 DENND2A Synonymous SNV V807V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.209 248041 chr11 68355427 68355427 G A rs759764012 PPP6R3 Synonymous SNV T393T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 248042 chr11 57259320 57259320 C T rs141938667 SLC43A1 Nonsynonymous SNV R296H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.2 248043 chr16 88798859 88798859 C T rs770222800 PIEZO1 Nonsynonymous SNV A959T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12 248044 chr6 160517577 160517577 C T rs199651009 IGF2R Synonymous SNV D2254D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.26 248045 chr6 160963771 160963771 C A rs76062330 LPA Nonsynonymous SNV G1823V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 248046 chr11 7324406 7324406 C T SYT9 Synonymous SNV N94N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.776 248047 chr11 73795965 73795965 C T rs199813738 C2CD3 Nonsynonymous SNV V1321I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 248048 chr16 89986531 89986531 T C rs369542041 MC1R Nonsynonymous SNV C289R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 248049 chr16 90103770 90103770 A - rs909318705 GAS8 Q104Rfs*19 0.001 0 0.003 0 1 0 0 1 0 0 0 0 248050 chr2 102636247 102636247 A G rs139319473 IL1R2 Nonsynonymous SNV T221A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 248051 chr14 37132613 37132613 G A rs61734510 PAX9 Synonymous SNV K172K 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign/Likely benign 10.12 248052 chr11 62287497 62287497 G A rs148186265 AHNAK Nonsynonymous SNV P4798S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 248053 chr14 39769122 39769122 A C rs34761053 MIA2 Nonsynonymous SNV K163Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 16.87 248054 chr7 6628248 6628248 T A rs756151915 ZDHHC4 Nonsynonymous SNV Y248N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 248055 chr14 39790149 39790149 C G rs36060072 MIA2 Nonsynonymous SNV P441A 0.003 0.008 0 0 3 3 0 0 0 0 0 0 22.7 248056 chr10 62652590 62652590 G T rs748939630 RHOBTB1 Synonymous SNV R34R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.844 248057 chr7 83823820 83823820 T C rs146518409 SEMA3A Nonsynonymous SNV N28S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.408 248058 chr11 64681821 64681821 C T ATG2A Nonsynonymous SNV R108H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 248059 chr10 69676301 69676301 C G SIRT1 Nonsynonymous SNV S429C 0.003 0 0 0 4 0 0 0 0 0 0 0 18.35 248060 chr10 69714484 69714484 A G HERC4 Synonymous SNV V480V 0.003 0 0 0 4 0 0 0 0 0 0 0 9.379 248061 chr17 27233312 27233312 C T rs141686259 PHF12 Synonymous SNV A968A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 248062 chr17 27437499 27437499 C T rs759304856 MYO18A Synonymous SNV A1014A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 248063 chr10 75255544 75255544 G C rs372069711 PPP3CB-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 15.22 248064 chr14 65253480 65253480 T C rs371774042 SPTB Nonsynonymous SNV Q1068R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.949 248065 chr2 158977927 158977927 C T rs372476628 UPP2 Nonsynonymous SNV A154V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.201 248066 chr10 8051218 8051218 G A rs780376074 TAF3 Synonymous SNV P831P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 8.901 248067 chr14 71575522 71575522 G A rs757434829 PCNX1 Nonsynonymous SNV R2057Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 248068 chr2 166627190 166627190 T C GALNT3 Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.206 248069 chr8 11177223 11177223 G A MTMR9 Synonymous SNV T454T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 248070 chr10 91203545 91203545 T C SLC16A12 Nonsynonymous SNV H91R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 248071 chr8 124518735 124518735 C T rs774393385 FBXO32 Nonsynonymous SNV R99Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 248072 chr12 113407525 113407525 C T rs768175729 OAS3 Nonsynonymous SNV R1073W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 248073 chr12 113442801 113442801 C G OAS2 Nonsynonymous SNV F414L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 248074 chr12 113602003 113602003 G A rs769100374 DDX54 Nonsynonymous SNV R603C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 248075 chr12 113745603 113745603 G A rs748038619 SLC8B1 Nonsynonymous SNV A379V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 248076 chr17 38652465 38652465 C T rs752964787 TNS4 Synonymous SNV Q71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.64 248077 chr17 39115110 39115110 G A rs751328453 KRT39 Nonsynonymous SNV R407C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 248078 chr12 120750369 120750369 G A rs141365005 SIRT4 Nonsynonymous SNV G203D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 248079 chr8 142367127 142367127 G A rs138344493 GPR20 Synonymous SNV F299F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 248080 chr6 55300467 55300467 T G rs773981172 HMGCLL1 Nonsynonymous SNV N236T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 248081 chr14 94964427 94964427 T C SERPINA12 Nonsynonymous SNV N103S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.362 248082 chr8 143747023 143747023 C T rs201592742 JRK Nonsynonymous SNV S152N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.766 248083 chr8 144657027 144657027 C T rs1007354206 NAPRT Nonsynonymous SNV C506Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 248084 chr6 7231873 7231873 A G RREB1 Nonsynonymous SNV I1181V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.784 248085 chr17 42030500 42030500 G T rs781712657 PYY Synonymous SNV G82G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 248086 chr6 75833051 75833051 C T rs374405599 COL12A1 Nonsynonymous SNV R1150Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 248087 chr6 76072569 76072569 T C rs763897881 FILIP1 Nonsynonymous SNV H114R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 248088 chr3 14731523 14731523 C T rs187372155 C3orf20 Synonymous SNV S93S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.59 248089 chr17 43923969 43923969 G A rs150398987 SPPL2C Nonsynonymous SNV S566N 0.002 0 0.003 0 2 0 0 1 1 0 0 0 0.001 248090 chr17 4607200 4607200 G A rs200828786 PELP1 Synonymous SNV L69L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 248091 chr3 15469287 15469287 A G EAF1 Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 248092 chr12 100496585 100496585 G C rs746832433 UHRF1BP1L Nonsynonymous SNV S99R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 248093 chr17 48192944 48192944 T C rs762755447 SAMD14 Nonsynonymous SNV K269R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22 248094 chr11 10820791 10820791 C T EIF4G2 Synonymous SNV Q797Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.65 248095 chr11 112131158 112131158 T C rs556362630 PLET1 Nonsynonymous SNV H52R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 248096 chr17 55948691 55948691 C G CUEDC1 Nonsynonymous SNV S275T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 248097 chr17 58235742 58235742 C T CA4 Nonsynonymous SNV P227S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 248098 chr17 62034815 62034815 T C SCN4A Nonsynonymous SNV N695D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 25.5 248099 chr17 66416406 66416406 C T rs369772288 ARSG Synonymous SNV D460D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 248100 chr15 59406692 59406692 G T rs767834376 CCNB2 Nonsynonymous SNV C106F 0 0.003 0 0 0 1 0 0 0 0 0 0 31 248101 chr15 59406693 59406693 C G rs775189310 CCNB2 Nonsynonymous SNV C106W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 248102 chr2 233390160 233390160 G A rs1054994729 PRSS56 Nonsynonymous SNV E586K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 248103 chr11 124056479 124056479 A G rs749096070 OR10D3 Nonsynonymous SNV Y168C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 248104 chr2 234299122 234299122 G A rs374599565 DGKD Nonsynonymous SNV S70N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 248105 chr11 124739450 124739450 G A rs192622083 ROBO3 Nonsynonymous SNV V198M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.8 248106 chr12 122261569 122261569 G A rs373993063 SETD1B Nonsynonymous SNV R1695H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 248107 chr11 125324086 125324086 G A rs139178115 FEZ1 Synonymous SNV I320I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.85 248108 chr17 73500973 73500973 G C rs149155862 CASKIN2 Nonsynonymous SNV P289R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 248109 chr7 11446574 11446574 C T rs148939821 THSD7A Nonsynonymous SNV R1342Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 14.46 248110 chr12 124177214 124177214 C T rs564412882 TCTN2 Nonsynonymous SNV T347I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.72 248111 chr2 234959652 234959652 G A rs138848923 SPP2 Synonymous SNV R41R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.666 248112 chr15 68378727 68378727 A G rs375843928 PIAS1 Synonymous SNV E36E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.104 248113 chr7 123672945 123672945 G C rs905672349 TMEM229A Nonsynonymous SNV P38R 0 0 0 1 0 0 0.003 0 0 0 0 0 23 248114 chr12 53170660 53170660 C A KRT76 Nonsynonymous SNV S139I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 248115 chr17 75878352 75878352 G A rs142930552 LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 3.99 248116 chr8 72936062 72936062 T C TRPA1 Nonsynonymous SNV K1046E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 248117 chr17 76471808 76471808 G C rs200916759 DNAH17 Nonsynonymous SNV N2754K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.716 248118 chr17 7756738 7756738 C G KDM6B Nonsynonymous SNV L1650V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.076 248119 chr8 95399308 95399308 T A rs144828525 RAD54B Nonsynonymous SNV D446V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 248120 chr17 78082385 78082385 G A GAA Nonsynonymous SNV M391I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 248121 chr17 78180771 78180771 C T rs1045266295 CARD14 Synonymous SNV N898N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.948 248122 chr7 138145446 138145446 C T TRIM24 Synonymous SNV N51N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 248123 chr3 45988293 45988293 G A rs151224196 CXCR6 Nonsynonymous SNV G107D 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.5 248124 chr17 78942680 78942680 G A rs1005457480 LOC400627 0 0 0.003 0 0 0 0 1 0 0 0 0 0.965 248125 chr17 79006387 79006387 A C rs7405668 BAIAP2-DT 0 0 0.007 0 0 0 0 2 0 0 1 0 0.575 248126 chr9 100839202 100839202 G A rs143387431 NANS Nonsynonymous SNV M117I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 248127 chr17 79167832 79167832 C T rs145129622 CEP131 Nonsynonymous SNV E739K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 248128 chr3 46713421 46713421 G A ALS2CL Synonymous SNV P879P 0.003 0 0 2 3 0 0.005 0 0 0 0 0 13.08 248129 chr11 20691318 20691318 A G rs768562061 NELL1 Nonsynonymous SNV R17G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.35 248130 chr17 79596784 79596784 T C NPLOC4 Synonymous SNV T21T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.894 248131 chr17 79847170 79847170 C T rs201802675 ALYREF Synonymous SNV A142A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 248132 chr17 79898821 79898821 T C rs150154051 MYADML2 Nonsynonymous SNV N266S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 248133 chr3 47452841 47452841 C T PTPN23 Synonymous SNV L1059L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.675 248134 chr15 89758367 89758367 C A rs760022438 RLBP1 Nonsynonymous SNV S150I 0 0.008 0 0 0 3 0 0 0 0 0 0 22.6 248135 chr17 8926318 8926318 A G rs199674301 NTN1 Nonsynonymous SNV M210V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.116 248136 chr3 23963144 23963144 C T rs745489384 RPL15 Nonsynonymous SNV A139V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.823 248137 chr9 93637063 93637063 G A rs151053124 SYK Synonymous SNV T348T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.29 248138 chr9 114886635 114886635 C A rs774815840 SUSD1 Nonsynonymous SNV R263L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 248139 chr12 69967937 69967937 T C rs368152941 FRS2 Synonymous SNV L243L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 248140 chr3 36896769 36896769 G A rs371231862 TRANK1 Nonsynonymous SNV R1438C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 248141 chr18 2891037 2891037 G A rs371603279 EMILIN2 Synonymous SNV P304P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.965 248142 chr11 4621925 4621925 C T rs765249252 TRIM68 Nonsynonymous SNV V124I 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 248143 chr12 50027275 50027275 C T rs770061278 PRPF40B Synonymous SNV N153N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.805 248144 chr3 71019920 71019920 G A rs182266160 FOXP1 Synonymous SNV H463H 0 0 0 2 0 0 0.005 0 0 0 0 0 7.441 248145 chr16 1493606 1493606 G A rs555915700 CCDC154 Synonymous SNV L105L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.165 248146 chr18 44114362 44114362 G A rs7244681 LOXHD1 Nonsynonymous SNV T176M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.68 248147 chr11 48267442 48267442 G T rs137858399 OR4X2 Nonsynonymous SNV V263L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.704 248148 chr3 47046574 47046574 T G rs778279581 NBEAL2 Nonsynonymous SNV L2102R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 248149 chr3 47957885 47957885 T C MAP4 Nonsynonymous SNV M478V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.675 248150 chr18 56718752 56718752 C G rs183412392 OACYLP 0 0 0.003 0 0 0 0 1 0 0 0 0 8.694 248151 chr9 125424052 125424052 C T rs141530497 OR1L1 Stop gain R20X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.75 248152 chr9 125424277 125424277 A G rs70157 OR1L1 Nonsynonymous SNV S95G 0.003 0 0 3 3 0 0.008 0 0 0 0 0 0.039 248153 chr9 125424289 125424289 A G rs16912055 OR1L1 Nonsynonymous SNV T99A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.132 248154 chr9 125551732 125551732 G A rs144163074 OR5C1 Nonsynonymous SNV R174H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.159 248155 chr9 125552067 125552067 A G rs140865367 OR5C1 Nonsynonymous SNV I286V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 248156 chr13 113826090 113826090 C T rs140236962 PROZ Nonsynonymous SNV L292F 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.8 248157 chr9 126144522 126144522 G A rs141091713 DENND1A Nonsynonymous SNV T751M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.06 248158 chr3 52818447 52818447 G A rs767332893 ITIH1 Nonsynonymous SNV R166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 248159 chr16 28845909 28845909 G A rs142624994 ATXN2L Synonymous SNV P782P 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 13.64 248160 chr16 28883975 28883975 T C rs142515048 SH2B1 Nonsynonymous SNV S280P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20.6 248161 chr9 137300075 137300075 C T rs147223381 RXRA Synonymous SNV P23P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.99 248162 chr16 2983582 2983582 G A rs200725863 FLYWCH1 Synonymous SNV P416P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.97 248163 chr16 30012747 30012747 C T rs540928017 INO80E Nonsynonymous SNV R137C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.7 248164 chr16 30995203 30995203 G A rs766086848 SETD1A Synonymous SNV E1661E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 7.423 248165 chr3 65425636 65425636 C T rs768041548 MAGI1 Synonymous SNV R396R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 248166 chr16 4057521 4057521 C T rs758306629 ADCY9 Nonsynonymous SNV E578K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.9 248167 chr9 135114504 135114504 C T rs780762478 NTNG2 Synonymous SNV Y356Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.58 248168 chr19 11527625 11527625 G A rs149175134 RGL3 Nonsynonymous SNV R86C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 248169 chr19 1275772 1275772 A G rs1033073792 FAM174C Nonsynonymous SNV Y75C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 248170 chr19 12805630 12805630 A G rs765150171 FBXW9 Nonsynonymous SNV S178P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 248171 chr19 13067915 13067915 G T rs1032375762 GADD45GIP1 Synonymous SNV R38R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.005 248172 chr9 20413910 20413910 T C rs150329627 MLLT3 Nonsynonymous SNV S309G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.14 248173 chr9 20414308 20414310 CTA - rs773355057 MLLT3 S187del 0.001 0 0 0 1 0 0 0 0 0 0 0 248174 chr19 15349962 15349962 G A rs118000160 BRD4 Synonymous SNV A1230A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.984 248175 chr13 58207188 58207188 C T rs35287822 PCDH17 Synonymous SNV L170L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.511 248176 chr14 104618523 104618523 G A rs199541796 KIF26A Nonsynonymous SNV A154T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.9 248177 chr7 92760773 92760773 A C rs200615225 SAMD9L Nonsynonymous SNV N1504K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.537 248178 chr16 72821374 72821374 A G ZFHX3 Nonsynonymous SNV S2687P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.99 248179 chr19 19746457 19746457 G T rs141198269 GMIP Nonsynonymous SNV D467E 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.088 248180 chr19 20117389 20117389 T G ZNF682 Nonsynonymous SNV T276P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 248181 chr3 130124458 130124458 A G rs1001235175 COL6A5 Synonymous SNV Q1436Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.405 248182 chr7 99453277 99453277 T C CYP3A43 Nonsynonymous SNV V135A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.226 248183 chr11 56468339 56468339 C T rs767957699 OR9G1, OR9G9 Nonsynonymous SNV T159I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 248184 chr9 94495624 94495624 G A rs56302651 ROR2 Synonymous SNV C239C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.09 248185 chr16 77775617 77775617 G A rs201646279 NUDT7 Nonsynonymous SNV V110I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.435 248186 chr19 2807444 2807444 G A rs138224189 THOP1 Synonymous SNV E297E 0 0 0.007 0 0 0 0 2 0 0 0 0 5.454 248187 chr11 5664746 5664746 C A rs148404455 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV S425Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 248188 chr4 38016525 38016525 C T rs145326826 TBC1D1 Synonymous SNV N271N 0 0 0.003 3 0 0 0.008 1 0 0 0 1 11.78 248189 chr4 38928667 38928667 C T rs868738661 FAM114A1 Nonsynonymous SNV T422M 0 0 0 2 0 0 0.005 0 0 0 0 0 4.82 248190 chr19 35715941 35715941 G A rs200053810 FAM187B Synonymous SNV A299A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.62 248191 chrX 130419821 130419821 T C rs190917856 IGSF1 Nonsynonymous SNV N91S 0.002 0 0 0 2 0 0 0 1 0 0 0 6.621 248192 chr19 36230788 36230788 T G rs45459701 IGFLR1 Nonsynonymous SNV I182L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.002 248193 chr19 36243890 36243890 G A rs35556589 LIN37 Synonymous SNV P75P 0.003 0.003 0.014 0 3 1 0 4 0 0 0 0 12.4 248194 chr10 29169285 29169285 - GC rs770540670 C10orf126 0 0 0 1 0 0 0.003 0 0 0 0 0 248195 chrX 135067727 135067727 C G SLC9A6 Synonymous SNV R22R 0.002 0 0 0 2 0 0 0 1 0 0 0 2.883 248196 chr4 44638033 44638033 G A rs374178881 YIPF7 Synonymous SNV Y86Y 0 0 0 2 0 0 0.005 0 0 0 0 0 1.016 248197 chr19 36912694 36912694 C A rs906004576 LOC644189 0 0 0.003 0 0 0 0 1 0 0 0 0 9.389 248198 chr13 33704344 33704344 T C rs773488321 STARD13 Nonsynonymous SNV D149G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.57 248199 chr10 33491907 33491907 C T rs779842104 NRP1 Synonymous SNV P592P 0 0 0 2 0 0 0.005 0 0 0 0 0 17.07 248200 chr4 55592080 55592080 G A rs767079772 KIT Synonymous SNV P468P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 6.267 248201 chr13 41767536 41767536 G A rs768893444 KBTBD7 Synonymous SNV I286I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.85 248202 chrX 153128973 153128973 A G rs782791362 L1CAM Synonymous SNV S1158S 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 9.369 248203 chrX 19389602 19389602 A G rs143293364 MAP3K15 Nonsynonymous SNV I1052T 0.002 0 0 0 2 0 0 0 1 0 0 0 25.8 248204 chr14 31592174 31592174 T A rs374874773 HECTD1 Nonsynonymous SNV E1687D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 248205 chr10 47087739 47087739 C A rs782429881 NPY4R, NPY4R2 Nonsynonymous SNV P319Q 0 0 0 2 0 0 0.005 0 0 0 0 0 29.1 248206 chr3 183906909 183906909 C G ABCF3 Synonymous SNV A331A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.55 248207 chr19 39068668 39068668 G A rs201157293 RYR1 Synonymous SNV P4756P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.117 248208 chr19 39361769 39361769 C G rs200576310 RINL Nonsynonymous SNV E184Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.828 248209 chr3 184025755 184025755 C T PSMD2 Synonymous SNV A662A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.85 248210 chr19 3979372 3979372 G T rs2305111 EEF2 Synonymous SNV I556I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 12.61 248211 chrX 2928108 2928108 A G rs140568041 ARSH Nonsynonymous SNV R44G 0.003 0 0 0 3 0 0 0 1 0 0 0 19.33 248212 chr10 50828626 50828626 G C rs8178989 CHAT Nonsynonymous SNV R104P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 20.4 248213 chr19 40580618 40580618 T C rs779961382 ZNF780A Synonymous SNV K577K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 248214 chr19 40877716 40877716 G A rs754433990 PLD3 Nonsynonymous SNV R272H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 248215 chr3 184910206 184910206 C G rs201266244 EHHADH Nonsynonymous SNV K564N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.98 248216 chrX 46719522 46719522 C A RP2 Nonsynonymous SNV P290T 0.002 0 0 0 2 0 0 0 1 0 0 0 17.57 248217 chrX 47040953 47040953 G A RBM10 Nonsynonymous SNV A418T 0.002 0 0 0 2 0 0 0 1 0 0 0 12.05 248218 chr17 10633212 10633212 G T TMEM220-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.56 248219 chr8 144511869 144511869 C T rs374635558 MAFA Synonymous SNV S236S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.9 248220 chr19 4168437 4168437 C T rs74612303 CREB3L3 Synonymous SNV I267I 0 0 0.01 0 0 0 0 3 0 0 0 0 6.777 248221 chr8 144512184 144512184 G A rs75183115 MAFA Synonymous SNV L131L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.617 248222 chr19 41838090 41838090 G C rs201366321 TGFB1 Synonymous SNV A319A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.625 248223 chrX 55033807 55033807 G C rs758500844 APEX2 Nonsynonymous SNV R328P 0.002 0 0 0 2 0 0 0 1 0 0 0 11.95 248224 chr19 4333811 4333811 G C STAP2 Nonsynonymous SNV H59Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 248225 chr14 53190694 53190694 A G rs150366196 PSMC6 Nonsynonymous SNV I230V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 248226 chr8 144944616 144944616 G A rs373257586 EPPK1 Nonsynonymous SNV R936W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 248227 chr17 18052824 18052824 C T rs759757599 MYO15A Nonsynonymous SNV A2381V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 248228 chr10 72468447 72468447 C T rs145297650 ADAMTS14 Synonymous SNV I261I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 17.72 248229 chr14 60394696 60394699 TAAT - LRRC9 I13Kfs*29 0.003 0 0 0 3 0 0 0 0 0 0 0 248230 chr19 45021266 45021266 G A rs760861414 CEACAM20 Synonymous SNV H350H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.041 248231 chr10 74885196 74885196 G A rs144174919 NUDT13 Nonsynonymous SNV R14Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 248232 chr10 75519846 75519846 - GGCCAGGCTCCTCCCCTT rs757854314 SEC24C L190_S191insGQAPPL 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 248233 chr19 45579482 45579482 G T rs761618699 ZNF296 Synonymous SNV P50P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.803 248234 chr19 45596772 45596772 C T rs778466899 PPP1R37 Synonymous SNV D63D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 248235 chr11 6898477 6898477 C T OR10A4 Nonsynonymous SNV A200V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 248236 chr14 20854625 20854625 C T rs141172994 TEP1 Nonsynonymous SNV E840K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 248237 chr19 47823968 47823968 C T rs763510565 C5AR1 Nonsynonymous SNV R312W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 248238 chr10 90676486 90676486 C T rs140820995 STAMBPL1 Nonsynonymous SNV A318V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 248239 chr11 71155974 71155974 T A rs115595829 DHCR7 Nonsynonymous SNV I9F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 0.014 248240 chr11 71208537 71208537 G A rs35007971 NADSYN1 Nonsynonymous SNV M591I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 24.7 248241 chr8 22873237 22873237 C A RHOBTB2 Nonsynonymous SNV D656E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.14 248242 chr14 77685174 77685174 C T rs141518471 TMEM63C Synonymous SNV D6D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.126 248243 chr19 49651411 49651411 A G rs56188759 PPFIA3 Synonymous SNV Q969Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.816 248244 chr11 74408274 74408274 G A rs79893604 CHRDL2 Stop gain R312X 0.001 0 0 0 1 0 0 0 0 0 0 0 31 248245 chr11 74429777 74429777 A G CHRDL2 Synonymous SNV C41C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.076 248246 chr19 50796922 50796922 G A rs201923258 MYH14 Nonsynonymous SNV R1775H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.1 248247 chr4 17710631 17710631 C A rs746290653 FAM184B Nonsynonymous SNV V260F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 248248 chr19 50983882 50983882 C T rs760587429 EMC10 Synonymous SNV H149H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 248249 chr11 77937827 77937827 C T rs777024151 GAB2 Synonymous SNV T259T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.408 248250 chr4 25160708 25160708 A G SEPSECS Nonsynonymous SNV W46R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 248251 chr10 102743203 102743203 G A rs144727154 SEMA4G Nonsynonymous SNV R616H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 248252 chr8 38006227 38006227 C A rs141136662 STAR Nonsynonymous SNV R37L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 248253 chr4 38022269 38022269 G A rs758994457 TBC1D1 Nonsynonymous SNV G344S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 248254 chr17 38130531 38130531 G A rs200722398 GSDMA Nonsynonymous SNV V253I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.251 248255 chr4 38830071 38830071 G T rs749165469 TLR6 Nonsynonymous SNV P342T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 248256 chr10 104866438 104866438 G A rs139949315 NT5C2 Synonymous SNV S38S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.09 248257 chr4 42069181 42069181 C T SLC30A9 Synonymous SNV A408A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 248258 chr4 47593385 47593385 G A rs765003197 ATP10D Nonsynonymous SNV G1423D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.542 248259 chr17 39305514 39305514 G C rs557854026 KRTAP4-5 Nonsynonymous SNV T169S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.03 248260 chr19 52888506 52888506 C A ZNF880 Nonsynonymous SNV T558N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 248261 chr8 75272408 75272408 T G rs281865060 GDAP1 Nonsynonymous SNV M7R 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 17.48 248262 chr5 14664995 14664995 C T OTULIN Nonsynonymous SNV P21S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.074 248263 chr14 55475378 55475378 C A WDHD1 Nonsynonymous SNV G11V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 248264 chr8 87229737 87229737 G T SLC7A13 Synonymous SNV R381R 0 0.003 0 2 0 1 0.005 0 0 0 0 1 5.839 248265 chr8 87393767 87393767 A G rs148496362 WWP1 Synonymous SNV Q81Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.435 248266 chr4 73956734 73956734 C T rs567498090 ANKRD17 Nonsynonymous SNV S1953N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.418 248267 chr14 64935914 64935914 T C rs1028816046 AKAP5 Synonymous SNV L268L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 248268 chr12 106633589 106633589 G A rs553591002 CKAP4 Nonsynonymous SNV A341V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 248269 chr14 65266565 65266565 T C rs202239352 SPTB Nonsynonymous SNV I322V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.55 248270 chr4 82092935 82092935 C G rs566711398 PRKG2 Nonsynonymous SNV G218R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 248271 chr1 33631081 33631081 C T rs756823760 TRIM62 Synonymous SNV A44A 0.003 0 0 0 3 0 0 0 0 0 0 0 19.47 248272 chr19 56028812 56028812 C T SSC5D Nonsynonymous SNV R1057W 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 248273 chr1 35658330 35658330 G T rs72908998 SFPQ Synonymous SNV S107S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.357 248274 chr19 57955700 57955700 C T rs144605370 ZNF749 Nonsynonymous SNV S308F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 248275 chr1 42629251 42629251 C G rs1025010133 GUCA2A Nonsynonymous SNV V36L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.1 248276 chr19 58600108 58600108 G A rs556563026 ZSCAN18 Nonsynonymous SNV A32V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 248277 chr12 120984375 120984377 TCT - rs776207559 RNF10 S110del 0.002 0 0 0 2 0 0 0 0 0 0 0 248278 chr14 96773246 96773246 C G rs367689988 ATG2B Nonsynonymous SNV L1437F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.741 248279 chr4 146695709 146695709 C T rs149612560 ZNF827 Nonsynonymous SNV V937I 0.002 0 0 0 2 0 0 0 0 0 0 0 24 248280 chr15 78385085 78385085 T C SH2D7 Synonymous SNV H53H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.257 248281 chr15 24921084 24921084 G A NPAP1 Nonsynonymous SNV A24T 0.003 0 0 0 4 0 0 0 0 0 0 0 13.51 248282 chr1 67299302 67299302 T G rs201361281 WDR78 Nonsynonymous SNV Q660P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 248283 chr5 54398511 54398511 A G rs775487285 GZMA Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 248284 chr19 9082961 9082961 A G rs367857499 MUC16 Nonsynonymous SNV S2952P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.233 248285 chr1 75037668 75037668 C T rs371901779 ERICH3 Synonymous SNV E1242E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.62 248286 chr5 60628526 60628546 GGCGGCGGCGGCGCGGGCGGC - rs746096842 ZSWIM6 A147_G153del 0 0 0 2 0 0 0.005 0 0 0 0 0 248287 chr1 10067716 10067716 G A rs151267380 RBP7 Synonymous SNV T54T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 248288 chr1 76349349 76349349 G A rs149910287 MSH4 Stop gain W650X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 248289 chr9 138395926 138395926 G A rs201117985 MRPS2 Nonsynonymous SNV G280R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.819 248290 chr1 109741244 109741244 C T rs146869330 KIAA1324 Nonsynonymous SNV R479C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 248291 chr1 109811509 109811509 C T rs142255122 CELSR2 Synonymous SNV S2170S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.31 248292 chr1 11159929 11159929 C T rs138380338 EXOSC10-AS1 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.75 248293 chr1 91977371 91977371 C T rs375886193 CDC7 Nonsynonymous SNV R155W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 248294 chr1 111826751 111826751 A T rs78275388 CHIAP2 0 0 0.01 0 0 0 0 3 0 0 1 0 13.45 248295 chr1 92498085 92498085 T C EPHX4 Synonymous SNV Y85Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.262 248296 chr9 139749921 139749921 - CCCCAGCC MAMDC4 Frameshift insertion L447Pfs*99 0 0 0 1 0 0 0.003 0 0 0 0 0 248297 chr1 114243494 114243494 A T rs765872366 PHTF1 Synonymous SNV L370L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 248298 chr5 79439507 79439507 G A rs552728668 SERINC5 Synonymous SNV P455P 0 0 0.007 2 0 0 0.005 2 0 0 0 0 2.353 248299 chr15 51285593 51285593 T C AP4E1 Nonsynonymous SNV I631T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 248300 chr5 13870983 13870983 G C DNAH5 Nonsynonymous SNV L1243V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 248301 chr1 1254777 1254777 T C rs201613283 INTS11 Nonsynonymous SNV I110V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.82 248302 chr5 22078650 22078650 G A rs147080212 CDH12 Nonsynonymous SNV R46W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 248303 chr1 1267253 1267253 G A rs140582284 TAS1R3 Nonsynonymous SNV G143R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 248304 chr17 7673921 7673921 T G DNAH2 Nonsynonymous SNV I1382R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 248305 chr1 150940307 150940307 C T rs149315209 CERS2 Nonsynonymous SNV V153I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 248306 chr9 35717295 35717295 G A rs762079887 TLN1 Nonsynonymous SNV A769V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 248307 chr5 54591229 54591229 T C rs149543515 DHX29 Nonsynonymous SNV Y210C 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 4.224 248308 chr1 153733358 153733358 C G rs141536439 INTS3 Nonsynonymous SNV S458C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 248309 chr9 71866149 71866149 G T rs199892018 TJP2 Nonsynonymous SNV V956L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 5.49 248310 chr1 155490957 155490957 G A rs377594252 ASH1L Synonymous SNV H118H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.825 248311 chr6 132938606 132938606 G A rs147900465 TAAR2 Stop gain R202X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 248312 chr16 3075762 3075762 C T rs115250573 THOC6 Synonymous SNV S31S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 16.76 248313 chr16 30762458 30762458 C T rs202177461 PHKG2 Nonsynonymous SNV H43Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 248314 chr5 78076411 78076411 T C rs747202445 ARSB Nonsynonymous SNV T471A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 248315 chr15 85164689 85164689 C T ZSCAN2 Synonymous SNV S421S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.122 248316 chr1 158621253 158621253 C G SPTA1 Nonsynonymous SNV L1127F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 248317 chr18 19154337 19154337 T A ESCO1 Nonsynonymous SNV K156N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.81 248318 chr16 3860615 3860615 C T rs587778212 CREBBP Nonsynonymous SNV V322M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 248319 chr1 161011915 161011915 G A rs775826413 USF1 Synonymous SNV S89S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 248320 chr18 30969544 30969544 G A rs116856132 CCDC178 Synonymous SNV N56N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.292 248321 chrX 135741275 135741275 G A rs199914973 CD40LG Nonsynonymous SNV V163I 0 0.005 0 2 0 2 0.005 0 0 1 0 1 Benign 11.95 248322 chr15 90168205 90168205 G A rs753998548 TICRR Nonsynonymous SNV S1554N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.5 248323 chrX 13734687 13734687 G A rs200844691 TRAPPC2 Synonymous SNV N68N 0.003 0 0 2 4 0 0.005 0 1 0 0 1 13.36 248324 chr11 46564032 46564032 C T rs144724685 AMBRA1 Nonsynonymous SNV R512Q 0 0 0 2 0 0 0.005 0 0 0 0 0 33 248325 chr18 32917593 32917593 C A rs145935120 ZNF24 Nonsynonymous SNV G237V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 248326 chr5 102295683 102295683 T C rs769725394 PAM Nonsynonymous SNV M337T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.066 248327 chr11 47721008 47721008 T C rs144429450 AGBL2 Synonymous SNV Q228Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 2.174 248328 chr1 169256570 169256570 C G NME7 Nonsynonymous SNV C242S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 248329 chrX 18924659 18924659 G A rs764158778 PHKA2 Synonymous SNV I920I 0 0 0 2 0 0 0.005 0 0 0 0 1 Likely benign 14.02 248330 chr1 169665674 169665674 A G SELL 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 248331 chrX 19560059 19560059 T A rs199561036 SH3KBP1 Nonsynonymous SNV M345L 0 0 0 2 0 0 0.005 0 0 0 0 1 16.16 248332 chr18 55020110 55020110 T C rs146954800 ST8SIA3 Synonymous SNV S11S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.744 248333 chr5 127670952 127670952 C T rs759131544 FBN2 Nonsynonymous SNV D1295N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 248334 chr11 48387699 48387699 G A rs965153862 OR4C5 Nonsynonymous SNV L107F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.664 248335 chr16 68025977 68025977 G A rs150749878 DPEP2 Synonymous SNV T12T 0.003 0 0 0 4 0 0 0 0 0 0 0 10.3 248336 chrX 37312617 37312617 C G rs145751381 PRRG1 Nonsynonymous SNV P134A 0 0 0 2 0 0 0.005 0 0 0 0 1 2.252 248337 chr16 697812 697812 G A MCRIP2 Nonsynonymous SNV G28S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 248338 chr6 24533806 24533806 G A rs151294087 ALDH5A1 Nonsynonymous SNV V444I 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 17.16 248339 chr16 736998 736998 C T rs139820984 WDR24 Nonsynonymous SNV V360M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.67 248340 chr10 101717106 101717106 C A DNMBP-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.875 248341 chr13 27256837 27256837 C T rs146985044 WASF3 Synonymous SNV F356F 0.002 0 0 0 2 0 0 0 0 0 0 0 19.34 248342 chr1 200312245 200312245 G A rs574858386 LINC00862 0 0 0.003 0 0 0 0 1 0 0 0 0 3.907 248343 chr16 2503465 2503465 G A CCNF Nonsynonymous SNV D240N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.72 248344 chr16 27506809 27506809 G A rs770695770 GTF3C1 Synonymous SNV P785P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 248345 chr1 201337340 201337340 G A rs200754249 TNNT2 Nonsynonymous SNV A23V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.92 248346 chr13 33629393 33629393 C T rs3752472 KL Nonsynonymous SNV P514S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.7 248347 chr13 35731283 35731283 C G NBEA Nonsynonymous SNV S907C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 248348 chr1 202956039 202956039 T C rs562600194 LOC100506747 0 0 0.003 0 0 0 0 1 0 0 0 0 2.674 248349 chr1 204006687 204006687 G A rs73067708 LINC00303 0 0 0.01 0 0 0 0 3 0 0 1 0 3.104 248350 chr1 204587918 204587918 C T rs35322898 LRRN2 Synonymous SNV P401P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.28 248351 chr6 42797310 42797310 G A rs548907455 BICRAL Synonymous SNV S413S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.21 248352 chr16 88791483 88791483 C T PIEZO1 Nonsynonymous SNV D1390N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.47 248353 chr1 209791983 209791983 G A rs61753424 LAMB3 Nonsynonymous SNV T908I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.03 248354 chr16 89262636 89262636 C T rs559452735 SLC22A31 Nonsynonymous SNV R353Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.84 248355 chr1 211565281 211565281 A C LINC00467 0 0 0.003 0 0 0 0 1 0 0 0 0 5.447 248356 chr1 216062097 216062097 G C USH2A Nonsynonymous SNV L2632V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 248357 chr17 10558216 10558216 G C rs143973840 MYH3 Nonsynonymous SNV Q56E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.618 248358 chr17 12812219 12812219 G A ARHGAP44 Synonymous SNV K68K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 248359 chr1 226033035 226033035 T A rs45563137 EPHX1 Nonsynonymous SNV L452Q 0.005 0 0.003 1 6 0 0.003 1 0 0 0 0 16.55 248360 chr1 226180638 226180638 G A rs747897095 SDE2 Nonsynonymous SNV R102W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 248361 chr1 228334636 228334636 C A GUK1 Nonsynonymous SNV T104K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 248362 chr1 228444585 228444585 G A rs376879212 OBSCN Nonsynonymous SNV E1515K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 248363 chr17 17716705 17716705 C T rs564483083 SREBF1 Nonsynonymous SNV R1040Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 248364 chr1 228466900 228466900 G T OBSCN Nonsynonymous SNV G2384V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 248365 chr1 22927488 22927488 G A rs146856523 EPHA8 Nonsynonymous SNV R879Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 248366 chr1 22927529 22927529 G A rs544797559 EPHA8 Nonsynonymous SNV D893N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 248367 chr1 22974089 22974089 G A rs753779937 C1QC Nonsynonymous SNV R95H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.204 248368 chr6 89871896 89871896 - T PM20D2 Stop gain K411* 0 0 0 2 0 0 0.005 0 0 0 0 0 248369 chr6 90421877 90421877 A C MDN1 Nonsynonymous SNV I2510S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.1 248370 chr19 19674360 19674360 G A PBX4 Synonymous SNV A330A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.555 248371 chr1 240255668 240255668 G A rs764756141 FMN2 Nonsynonymous SNV G87R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 248372 chr1 240256668 240256668 A C rs146681532 FMN2 Nonsynonymous SNV K420T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 248373 chr10 27462087 27462087 C A rs748368433 MASTL Nonsynonymous SNV T722N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 248374 chr6 24786025 24786025 T C rs757538616 GMNN X210R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 248375 chr1 242159683 242159683 G A rs776473823 MAP1LC3C Nonsynonymous SNV R76C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 248376 chr14 24839012 24839012 T C NFATC4 Synonymous SNV D136D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.198 248377 chr19 31770210 31770210 C T rs762908534 TSHZ3 Synonymous SNV G163G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.771 248378 chr17 32483444 32483444 C A rs200791905 ASIC2 Synonymous SNV G36G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 248379 chr19 3543603 3543603 - CCCAGTACCAGGCC C19orf71 Frameshift insertion W134Pfs*88 0 0.003 0 0 0 1 0 0 0 0 0 0 248380 chr11 93554357 93554357 G A rs145563816 VSTM5 Nonsynonymous SNV T75M 0 0 0 2 0 0 0.005 0 0 0 0 0 0.08 248381 chr17 35413947 35413947 G A rs367770515 AATF Nonsynonymous SNV E556K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 248382 chr11 95825344 95825344 T C rs7109090 MAML2 Synonymous SNV Q617Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.051 248383 chr16 84695403 84695403 C T rs201446278 KLHL36 Synonymous SNV I442I 0.002 0 0 0 2 0 0 0 0 0 0 0 4.897 248384 chr14 45414623 45414623 G A KLHL28 Nonsynonymous SNV T184I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 248385 chr14 45523649 45523649 C T TOGARAM1 Nonsynonymous SNV P1433S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 248386 chr16 88497991 88497991 G A ZNF469 Synonymous SNV K1371K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.309 248387 chr16 88502584 88502584 G A rs767731436 ZNF469 Synonymous SNV T2902T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.315 248388 chr11 105948563 105948563 C T rs11553947 AASDHPPT Synonymous SNV P42P 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 21.8 248389 chr2 16080444 16080444 C G rs552404647 MYCNOS 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 248390 chr1 33490057 33490057 C T rs778547480 AK2 Nonsynonymous SNV D69N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 248391 chr7 104717792 104717792 G C KMT2E Nonsynonymous SNV D348H 0 0 0 2 0 0 0.005 0 0 0 0 0 27 248392 chr1 33820519 33820519 C T rs202093854 PHC2 Nonsynonymous SNV E409K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 248393 chr16 89017293 89017293 C T LOC100129697 Nonsynonymous SNV S256L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.841 248394 chr11 116732020 116732020 G C rs368729211 SIK3 Nonsynonymous SNV P751A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 248395 chr11 117857190 117857190 C A rs56008037 IL10RA Nonsynonymous SNV P3Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 12.69 248396 chr11 118404580 118404580 C T rs199815386 TMEM25 Nonsynonymous SNV R124W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 248397 chr11 119053000 119053000 C T rs147179534 NLRX1 Nonsynonymous SNV A851V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 248398 chr1 41012457 41012457 T C rs143540565 ZNF684 Synonymous SNV T154T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 248399 chr7 127222464 127222464 T C GCC1 Synonymous SNV Q644Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 248400 chr7 127991238 127991238 G T PRRT4 Nonsynonymous SNV S791Y 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 248401 chr7 128441492 128441492 G A rs185493260 CCDC136 Nonsynonymous SNV R200H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 29.4 248402 chr6 80718171 80718171 T C TTK Nonsynonymous SNV F144S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 248403 chr14 74086223 74086223 G A ACOT6 Nonsynonymous SNV V102M 0.002 0 0 0 2 0 0 0 0 0 0 0 19.97 248404 chr1 45292704 45292704 G A rs34245589 PTCH2 Synonymous SNV L855L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.438 248405 chr10 82111757 82111757 C T DYDC1 Nonsynonymous SNV R50K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 248406 chr1 46746857 46746857 G A rs143713818 LRRC41 Nonsynonymous SNV P566S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.1 248407 chr6 102513758 102513758 A G rs966374876 GRIK2 Synonymous SNV P883P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 248408 chr1 52385715 52385715 C T rs761379983 RAB3B Nonsynonymous SNV A182T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 248409 chr10 94372809 94372809 A G rs990681589 KIF11 Synonymous SNV S237S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.846 248410 chr6 114264560 114264560 C T HDAC2 Nonsynonymous SNV A445T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 248411 chr2 61147567 61147567 A G rs61748091 REL Synonymous SNV T324T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.029 248412 chr1 55564217 55564217 G T USP24 Nonsynonymous SNV D1795E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.471 248413 chr10 96798795 96798795 C T rs143386810 CYP2C8 Nonsynonymous SNV G282S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 26.1 248414 chr17 26902539 26902539 C T rs781213145 ALDOC Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.391 248415 chr1 63044499 63044499 T C DOCK7 Synonymous SNV T670T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.497 248416 chr17 27934852 27934852 G A rs148873780 ANKRD13B Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 248417 chr1 6521740 6521740 G A TNFRSF25 Synonymous SNV Y153Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.3 248418 chr14 96730470 96730470 C T rs202055275 BDKRB1 Nonsynonymous SNV R151W 0.002 0 0 0 2 0 0 0 0 0 0 0 23 248419 chr6 132891725 132891725 A T rs146517500 TAAR6 Nonsynonymous SNV S89C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 248420 chr12 5853353 5853353 C T rs755725535 ANO2 Nonsynonymous SNV V442I 0 0 0 2 0 0 0.005 0 0 0 0 0 31 248421 chr12 6632085 6632085 C T rs368606681 NCAPD2 Synonymous SNV I682I 0 0 0 3 0 0 0.008 0 0 0 0 0 15.79 248422 chr17 56345338 56345338 G A LPO Nonsynonymous SNV A625T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 248423 chr15 30000834 30000834 G A rs536664612 TJP1 Synonymous SNV F1513F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 248424 chr17 3476935 3476935 T A TRPV1 Stop gain K699X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 248425 chr6 152545711 152545711 A G rs140962690 SYNE1 Nonsynonymous SNV M7076T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.3 248426 chr15 40582967 40582967 C T rs201270122 PLCB2 Synonymous SNV S1021S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.48 248427 chr6 153323786 153323786 C A rs111897291 MTRF1L Nonsynonymous SNV W12L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.607 248428 chr11 103229013 103229013 G T rs202216852 DYNC2H1 Nonsynonymous SNV G4028C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 248429 chr19 49379179 49379179 C T PPP1R15A Synonymous SNV R658R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.148 248430 chr15 41809883 41809883 G A rs756204073 RPAP1 Nonsynonymous SNV R1347W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 248431 chr1 9416073 9416073 G A rs140636579 SPSB1 Synonymous SNV L41L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.067 248432 chr1 9804694 9804694 G A rs780250057 CLSTN1 Synonymous SNV A321A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 248433 chr11 110007485 110007485 A G rs766223495 ZC3H12C Nonsynonymous SNV H40R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.909 248434 chr11 110477362 110477362 A G rs139802740 ARHGAP20 Nonsynonymous SNV M273T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 248435 chr17 71223357 71223357 G T rs748940049 FAM104A Nonsynonymous SNV Q90K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 248436 chr17 39577231 39577231 A G KRT37 Nonsynonymous SNV C417R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 248437 chr6 170594140 170594140 G A rs757878599 DLL1 Synonymous SNV D372D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.572 248438 chr19 51330165 51330165 C G rs61751958 KLK15 Nonsynonymous SNV E149D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.345 248439 chr17 3966150 3966150 T C rs138097259 ZZEF1 Nonsynonymous SNV I1594V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.462 248440 chr2 135625072 135625072 G C CCNT2-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.717 248441 chr20 23065476 23065476 A T rs771384408 CD93 Nonsynonymous SNV C452S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 248442 chr17 7293731 7293731 G A rs370775245 PLSCR3 Synonymous SNV G118G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.952 248443 chr15 58001341 58001341 G A rs138355131 GCOM1, POLR2M Synonymous SNV A181A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.27 248444 chr12 45751146 45751146 G A rs777413788 ANO6 Nonsynonymous SNV A313T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 248445 chr15 64592624 64592624 G A rs769861488 CSNK1G1 Synonymous SNV C25C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.17 248446 chr19 52660241 52660241 C A rs372308657 ZNF836 Nonsynonymous SNV S232I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.13 248447 chr2 163174709 163174709 A G IFIH1 Nonsynonymous SNV F37L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 29.2 248448 chr19 53117316 53117316 G A rs143166499 ZNF83 Nonsynonymous SNV R168C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.6 248449 chr20 35724323 35724323 C T rs775786158 RBL1 Synonymous SNV E3E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 248450 chr12 51208120 51208120 T C rs532503300 ATF1 Nonsynonymous SNV L190P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.8 248451 chr7 24874133 24874133 G A rs767955948 OSBPL3 Nonsynonymous SNV A506V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 248452 chr20 39977308 39977308 T C LPIN3 Nonsynonymous SNV L113P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 248453 chr20 43251709 43251709 T G ADA Nonsynonymous SNV K71T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.326 248454 chr2 179413657 179413657 A G rs373727636 TTN Nonsynonymous SNV I21834T 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.35 248455 chr2 179431226 179431226 C T TTN Nonsynonymous SNV V17480I 0.003 0 0 0 3 0 0 0 0 0 0 0 20.2 248456 chr2 179431967 179431967 C T rs72648205 TTN Nonsynonymous SNV G17233R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 248457 chr2 179433654 179433654 C T rs55857909 TTN Synonymous SNV V16670V 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.614 248458 chr20 43936854 43936854 G A rs143342734 RBPJL Nonsynonymous SNV E32K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 248459 chr17 7907334 7907334 G C rs1005083528 GUCY2D Nonsynonymous SNV A296P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.18 248460 chr2 186661731 186661731 T C rs531868260 FSIP2 Nonsynonymous SNV S3290P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.89 248461 chr7 43506167 43506167 T C rs115118985 HECW1 Synonymous SNV Y937Y 0.003 0 0 0 3 0 0 0 0 0 0 0 7.073 248462 chr17 56233042 56233042 C A rs186834238 OR4D1 Nonsynonymous SNV N176K 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 24.3 248463 chr20 55108487 55108487 C T rs780571480 FAM209B Synonymous SNV S30S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.21 248464 chr19 56538442 56538442 G A rs199500921 NLRP5 Synonymous SNV T281T 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 Likely benign 4.807 248465 chr19 56538697 56538697 C G NLRP5 Nonsynonymous SNV D366E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.054 248466 chr2 196746617 196746617 T C rs750208839 DNAH7 Nonsynonymous SNV T1955A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 248467 chr12 56995907 56995907 G A rs202169462 BAZ2A Nonsynonymous SNV A1165V 0 0 0 2 0 0 0.005 0 0 0 0 0 1.115 248468 chr15 90349631 90349631 C A rs574341939 ANPEP Nonsynonymous SNV A62S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.027 248469 chr12 57397250 57397250 G C rs145214115 ZBTB39 Synonymous SNV V484V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.062 248470 chr19 57956458 57956458 T G rs775606695 ZNF749 Nonsynonymous SNV F561V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 248471 chr11 2466533 2466533 G C KCNQ1 Nonsynonymous SNV A69P 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 0.513 248472 chr17 67111579 67111579 T C rs138362778 ABCA6 Nonsynonymous SNV H515R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 248473 chr7 64863950 64863950 T C rs753209877 ZNF92 Nonsynonymous SNV M232T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 248474 chr7 64864166 64864166 A G rs749120595 ZNF92 Nonsynonymous SNV Q304R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 248475 chr17 71205859 71205867 TGCTGCTGC - rs780394888 FAM104A A88_A90del 0.001 0 0 0 1 0 0 0 0 0 0 0 248476 chr19 6534841 6534841 G A rs34989544 TNFSF9 Nonsynonymous SNV A177T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.875 248477 chr20 62658980 62658980 C G PRPF6 Nonsynonymous SNV P744A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 248478 chr2 218937209 218937209 G A rs189254591 RUFY4 Nonsynonymous SNV R89H 0.004 0 0 0 5 0 0 0 0 0 0 0 9.468 248479 chr11 46726844 46726844 G T rs997277064 ZNF408 Nonsynonymous SNV A524S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.71 248480 chr12 101767503 101767503 T C UTP20 Synonymous SNV D2363D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.728 248481 chr16 21212743 21212743 C T rs141607027 ZP2 Synonymous SNV A538A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.63 248482 chr2 222428653 222428653 T C EPHA4 Synonymous SNV T156T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.096 248483 chr16 22284975 22284975 T C EEF2K Nonsynonymous SNV F598S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 248484 chr8 144895144 144895145 AG - rs763967231 MIR937 0 0 0 2 0 0 0.005 0 0 0 0 0 248485 chr21 45753065 45753065 G A rs778987436 CFAP410 Nonsynonymous SNV P75L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 248486 chr12 113534582 113534582 C T DTX1 Synonymous SNV N567N 0 0 0 2 0 0 0.005 0 0 0 0 0 1.857 248487 chr12 113866966 113866966 G T SDSL Synonymous SNV G72G 0 0 0 2 0 0 0.005 0 0 0 0 0 2.658 248488 chr12 118673416 118673416 A C rs142649312 TAOK3 Nonsynonymous SNV F166L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.2 248489 chr12 120031838 120031838 T C TMEM233 Nonsynonymous SNV M62T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.3 248490 chr21 47423853 47423853 C T rs780139552 COL6A1 Nonsynonymous SNV R1005C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 248491 chr17 7838453 7838453 C T rs147273177 CNTROB Nonsynonymous SNV T195I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 248492 chr21 47786722 47786722 C T rs147358856 PCNT Nonsynonymous SNV R827C 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 27.2 248493 chr8 1857590 1857590 C G rs150639767 ARHGEF10 Synonymous SNV A661A 0 0 0 2 0 0 0.005 0 0 0 0 0 12.07 248494 chr19 10131965 10131965 G A rs142734308 RDH8 Nonsynonymous SNV E191K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 248495 chr22 21343111 21343111 G A rs151294009 LZTR1 Synonymous SNV T181T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.13 248496 chr22 21384206 21384206 T C rs141822648 SLC7A4 Nonsynonymous SNV S473G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.791 248497 chr19 11304709 11304709 C T KANK2 Nonsynonymous SNV G16D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 248498 chr22 24896073 24896073 A G rs138081800 UPB1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 248499 chr7 121651491 121651491 G A rs61758737 PTPRZ1 Synonymous SNV T797T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 248500 chr7 121659204 121659204 C T PTPRZ1 Nonsynonymous SNV R764C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 248501 chr3 12942758 12942758 G A rs534679416 IQSEC1 Synonymous SNV A1023A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.005 248502 chr19 14164427 14164427 G A rs138317110 PALM3 Nonsynonymous SNV A620V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.408 248503 chr7 131194284 131194284 G A rs769831427 PODXL Nonsynonymous SNV T256M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 248504 chr7 134719165 134719165 C T rs138670083 AGBL3 Nonsynonymous SNV R275C 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.5 248505 chr7 134878070 134878070 G A rs111965102 WDR91 Synonymous SNV D550D 0.003 0 0 0 3 0 0 0 0 0 0 0 10.13 248506 chr7 135080490 135080490 C T CNOT4 Nonsynonymous SNV R339H 0.003 0 0 0 3 0 0 0 0 0 0 0 34 248507 chr22 31971288 31971288 C T rs201900042 SFI1 Nonsynonymous SNV R250W 0 0 0.007 0 0 0 0 2 0 0 0 0 15.35 248508 chr3 31725513 31725513 C T rs754059421 OSBPL10 Nonsynonymous SNV A383T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 248509 chr22 36697083 36697083 C T MYH9 Synonymous SNV Q884Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 248510 chr13 39265966 39265966 C G rs768751567 FREM2 Nonsynonymous SNV I1495M 0 0 0 1 0 0 0.003 0 0 0 0 0 19.36 248511 chr22 39218822 39218822 C T rs371378883 NPTXR Nonsynonymous SNV R432Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28 248512 chr22 40760295 40760295 A C rs775475956 ADSL Nonsynonymous SNV I373L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.81 248513 chr22 40807752 40807752 C T rs759103928 MRTFA Nonsynonymous SNV R813H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 248514 chr13 42874595 42874595 A C rs63263761 AKAP11 Nonsynonymous SNV K571N 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 24.4 248515 chr13 42874596 42874596 G C rs74623853 AKAP11 Nonsynonymous SNV G572R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 26 248516 chr8 8176649 8176649 G T rs374751432 PRAG1 Nonsynonymous SNV P1079H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 248517 chr22 41075643 41075643 C T rs747397259 MCHR1 Nonsynonymous SNV T65I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 248518 chr7 143826393 143826394 CA - OR2A14 H64Pfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 248519 chr22 41634834 41634834 - C CHADL Frameshift insertion A81Gfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 248520 chr16 75203362 75203362 C G ZFP1 Nonsynonymous SNV D85E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.35 248521 chr19 17598313 17598313 A G rs750251580 SLC27A1 Nonsynonymous SNV K257E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 248522 chr3 46245013 46245013 G A rs764537530 CCR1 Synonymous SNV F264F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.414 248523 chr19 17883345 17883345 C T rs528053341 FCHO1 Nonsynonymous SNV T175M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 248524 chr16 79633367 79633367 C T rs550438083 MAF Nonsynonymous SNV G145S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.368 248525 chr3 48638124 48638124 C T rs371743809 UQCRC1 Synonymous SNV L372L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 248526 chr3 49050198 49050198 G A rs370199277 WDR6 Nonsynonymous SNV A385T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 248527 chr3 49690683 49690683 A G rs368220707 BSN Nonsynonymous SNV T1232A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 248528 chr8 1626719 1626719 C T rs556653998 DLGAP2 Synonymous SNV H876H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.84 248529 chr18 74639277 74639277 A G rs181512072 ZNF236 Synonymous SNV L1406L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 0.964 248530 chr16 87344838 87344838 C T rs148863765 C16orf95 Nonsynonymous SNV R132H 0.003 0 0 0 3 0 0 0 0 0 0 0 12.47 248531 chr18 76870415 76870415 A G rs750367921 ATP9B Synonymous SNV V118V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.933 248532 chr18 77097419 77097419 G A rs747253618 ATP9B Synonymous SNV T751T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.5 248533 chr19 23927522 23927522 G A rs138088158 ZNF681 Nonsynonymous SNV T277I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 248534 chr3 66313767 66313767 G T rs545353680 SLC25A26 Synonymous SNV G51G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.849 248535 chr16 88873761 88873761 C T rs139052420 CDT1 Nonsynonymous SNV R450C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.02 248536 chr2 119732136 119732136 A T rs778750279 MARCO Nonsynonymous SNV E203V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 248537 chr3 97852042 97852042 C G rs759391444 OR5H1 Synonymous SNV T167T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.143 248538 chr16 89257821 89257821 C T rs773978015 CDH15 Nonsynonymous SNV P439L 0.003 0 0 0 3 0 0 0 0 0 0 0 19.46 248539 chr3 99514829 99514829 G A rs150077356 COL8A1 Nonsynonymous SNV G695D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 248540 chr2 1263184 1263184 C T rs777711211 SNTG2 Nonsynonymous SNV L350F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 248541 chr11 62397965 62397965 C T rs150463377 GANAB Nonsynonymous SNV V353I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 248542 chr3 105266355 105266355 C T rs145462175 ALCAM Synonymous SNV S454S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 17.96 248543 chr11 62444381 62444381 C T rs773362881 UBXN1 Nonsynonymous SNV E191K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 248544 chr17 11583077 11583077 G A DNAH9 Synonymous SNV L1119L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.971 248545 chr2 148693116 148693116 A G rs766439109 ORC4 Nonsynonymous SNV V341A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 248546 chr14 23564251 23564251 G A ACIN1 Nonsynonymous SNV A82V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 248547 chr2 157427787 157427787 G T GPD2 Nonsynonymous SNV D584Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 248548 chr14 23993148 23993148 G A rs916472307 ZFHX2 Synonymous SNV P2001P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 248549 chr19 38800283 38800283 G A rs142047616 YIF1B Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 248550 chr19 38986960 38986960 C T rs149185729 RYR1 Synonymous SNV G2218G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.57 248551 chr19 40366565 40366565 C T rs200280608 FCGBP Nonsynonymous SNV G4557S 0.003 0 0 0 3 0 0 0 0 0 0 0 28.1 248552 chr14 36154153 36154153 C G rs747689843 RALGAPA1 Nonsynonymous SNV D1379H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 248553 chr2 170055416 170055416 G T rs140586887 LRP2 Nonsynonymous SNV R2820S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 248554 chr1 180061951 180061951 C G CEP350 Synonymous SNV A2237A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.168 248555 chr2 171570175 171570175 G C LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 0.091 248556 chr2 179470190 179470190 A G TTN Synonymous SNV G8879G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.544 248557 chr19 42221606 42221606 C T rs782418714 CEACAM5 Synonymous SNV N397N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.491 248558 chr3 133327424 133327424 G A rs779005084 TOPBP1 Synonymous SNV N1455N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.84 248559 chr19 42753211 42753211 C T rs186795992 ERF Synonymous SNV P276P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 248560 chr1 186072727 186072727 G A rs41317483 HMCN1 Nonsynonymous SNV G3566D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 33 248561 chr3 134264514 134264514 G A CEP63 Synonymous SNV E214E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.581 248562 chr14 55510164 55510164 A T SOCS4 Synonymous SNV P135P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.866 248563 chr8 86126805 86126805 G A rs200451411 RBIS Nonsynonymous SNV A57V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 27.6 248564 chr2 182322413 182322413 C T ITGA4 Nonsynonymous SNV P11L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 248565 chr17 26955334 26955334 G A rs780975893 KIAA0100 Nonsynonymous SNV R1372C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 248566 chr19 18377935 18377935 G A rs199691381 IQCN Nonsynonymous SNV R139C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 248567 chr2 190340114 190340114 A G rs764382373 WDR75 Nonsynonymous SNV I822V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.477 248568 chr17 3336376 3336376 G C rs746024879 OR1E2 Nonsynonymous SNV L254V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 248569 chr3 150299451 150299451 C T EIF2A Nonsynonymous SNV P454L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.66 248570 chr2 192700851 192700851 G A CAVIN2 Nonsynonymous SNV A359V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.027 248571 chr3 154027603 154027603 T C rs760885157 DHX36 Nonsynonymous SNV N218D 0.003 0 0 0 4 0 0 0 0 0 0 0 7.022 248572 chr17 3427529 3427529 A G rs1034133548 TRPV3 Nonsynonymous SNV F569S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 248573 chr2 204240742 204240742 T G ABI2 Nonsynonymous SNV F2V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.871 248574 chr3 169486084 169486084 C T rs750747641 ACTRT3 Stop gain W85X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 248575 chr17 3850927 3850927 C T rs772945851 ATP2A3 Nonsynonymous SNV G285S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 248576 chr1 205211131 205211131 G A rs146720283 TMCC2 Nonsynonymous SNV V158M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.55 248577 chr11 93462938 93462938 C T CEP295 Nonsynonymous SNV P2520S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.22 248578 chr3 185369926 185369926 C T rs762044576 IGF2BP2 Nonsynonymous SNV E367K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 248579 chr2 218925475 218925475 C T rs116124215 CXCR2P1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.047 248580 chr11 95718721 95718721 T C MAML2 Nonsynonymous SNV N810S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 248581 chr3 190374059 190374059 G A rs199794101 IL1RAP Nonsynonymous SNV R576H 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 248582 chr12 101603399 101603399 G T SLC5A8 Synonymous SNV S76S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.95 248583 chr19 49416447 49416447 C T NUCB1 Synonymous SNV N220N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 248584 chr2 227661390 227661390 C T rs141094678 IRS1 Nonsynonymous SNV V689I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.107 248585 chr17 40574688 40574688 G A rs747663663 CAVIN1 Nonsynonymous SNV A143V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 248586 chr19 37619879 37619879 G C ZNF420 Nonsynonymous SNV Q591H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 248587 chr19 50386135 50386135 C T rs144381223 TBC1D17 Nonsynonymous SNV R272W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 248588 chr17 40823060 40823060 G T PLEKHH3 Nonsynonymous SNV A458D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 248589 chr17 40997830 40997830 T C rs991122483 AOC2 Nonsynonymous SNV V396A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 248590 chr4 436752 436752 C T rs781813935 ZNF721 Nonsynonymous SNV E502K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 248591 chr4 679906 679906 T G SLC49A3 Synonymous SNV R160R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.775 248592 chr12 110456996 110456996 C T rs371318947 ANKRD13A Synonymous SNV T199T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.51 248593 chr19 51528853 51528853 G A KLK11 Nonsynonymous SNV A12V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.616 248594 chrX 107834411 107834411 C A rs142883891 COL4A5 Nonsynonymous SNV A430D 0.004 0 0 3 5 0 0.008 0 1 0 0 1 Benign/Likely benign 18.97 248595 chr17 4451462 4451462 G A rs139169505 MYBBP1A Nonsynonymous SNV A567V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.43 248596 chr17 45452030 45452030 C T rs199652774 EFCAB13 Nonsynonymous SNV S261F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.376 248597 chr15 28096565 28096565 C T rs566250675 OCA2 Synonymous SNV P743P 0 0 0 2 0 0 0.005 0 0 0 0 0 9.577 248598 chr17 48701860 48701860 C T CACNA1G Synonymous SNV S1996S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 248599 chr1 23757583 23757583 C T rs568988549 ASAP3 Nonsynonymous SNV R852Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 248600 chr2 31596747 31596747 G C rs758445731 XDH Nonsynonymous SNV L560V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 248601 chr9 36665367 36665367 A G MELK Synonymous SNV E268E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.158 248602 chr1 247471802 247471802 C T rs758755445 ZNF496 Synonymous SNV T327T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.38 248603 chr15 42631878 42631878 G A rs758930000 GANC Nonsynonymous SNV G619R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 248604 chr2 39184120 39184120 C T rs528687169 ARHGEF33 Synonymous SNV I434I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 248605 chrX 68058614 68058614 C T EFNB1 Nonsynonymous SNV P95S 0 0 0 4 0 0 0.01 0 0 0 0 1 22.8 248606 chr19 47546120 47546120 G A rs151177532 NPAS1 Nonsynonymous SNV R232H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 248607 chr4 57839372 57839372 T C NOA1 Nonsynonymous SNV Q486R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 248608 chr2 5833999 5833999 G T rs746249275 SOX11 Synonymous SNV G382G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.398 248609 chr19 58806675 58806675 C T rs199797045 ZNF8 Nonsynonymous SNV R501W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 248610 chr10 104597028 104597028 G A rs777270119 CYP17A1 Nonsynonymous SNV L31F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 248611 chr12 43925904 43925904 T A rs755587819 ADAMTS20 Nonsynonymous SNV H183L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25 248612 chr15 67814045 67814045 C T rs867858614 IQCH-AS1 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 7.899 248613 chr15 68609607 68609607 G A ITGA11 Nonsynonymous SNV A904V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 248614 chr12 46594936 46594936 G A rs148875371 SLC38A1 Synonymous SNV F316F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 248615 chr19 6375528 6375528 G A PSPN Nonsynonymous SNV A83V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 248616 chr4 85638109 85638109 T C rs377182667 WDFY3 Synonymous SNV T2605T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.377 248617 chr15 72050313 72050313 C T rs769013005 THSD4 Nonsynonymous SNV P470S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 248618 chr4 88035586 88035586 C T rs201993229 AFF1 Nonsynonymous SNV A165V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.025 248619 chr4 88052985 88052985 C T rs144598701 AFF1 Nonsynonymous SNV P679S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.337 248620 chr1 34128628 34128628 C G CSMD2 Nonsynonymous SNV V1373L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.33 248621 chr4 88534128 88534128 G T rs776955343 DSPP Nonsynonymous SNV D264Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 248622 chr4 88535087 88535087 G A DSPP Nonsynonymous SNV G425R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 248623 chr2 96958727 96958727 G A rs554284886 SNRNP200 Nonsynonymous SNV H715Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 248624 chr4 89408264 89408264 T C rs191975349 HERC5 Synonymous SNV F632F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.802 248625 chr1 35370254 35370254 C A DLGAP3 Nonsynonymous SNV S244I 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.2 248626 chr12 49484977 49484977 C T DHH Nonsynonymous SNV V167M 0 0 0 2 0 0 0.005 0 0 0 0 0 29 248627 chr12 50236716 50236716 G - BCDIN3D P52Rfs*29 0 0 0 2 0 0 0.005 0 0 0 0 0 248628 chr15 75652004 75652004 G A rs77942503 MAN2C1 Synonymous SNV I536I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.693 248629 chr15 75949451 75949451 C T rs142634432 SNX33 Synonymous SNV L540L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.45 248630 chr3 107642594 107642594 T A rs190419229 LINC00636 0 0 0.007 0 0 0 0 2 0 0 0 0 8.187 248631 chr4 100756843 100756843 C T rs554960188 DAPP1 Synonymous SNV D55D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 248632 chr19 52448423 52448423 A G rs139601103 ZNF613 Synonymous SNV V429V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 8.964 248633 chr3 111853816 111853816 G C rs1019404677 TBILA 0 0 0.003 0 0 0 0 1 0 0 0 0 0.596 248634 chr1 42049568 42049568 T G rs780642957 HIVEP3 Synonymous SNV R301R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 248635 chr9 124094757 124094757 C T rs759348434 GSN Nonsynonymous SNV T742M 0.001 0 0 0 1 0 0 0 0 0 0 0 35 248636 chr9 125273240 125273240 C T rs201194266 OR1J2 Nonsynonymous SNV H54Y 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.71 248637 chr15 84245410 84245410 G A rs149232982 SH3GL3 Nonsynonymous SNV E112K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 248638 chr10 129913245 129913245 G C rs761799390 MKI67 Nonsynonymous SNV S476C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.12 248639 chr19 9061831 9061831 G C rs368165248 MUC16 Nonsynonymous SNV L8539V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 248640 chr4 140439096 140439096 C G rs200291509 SETD7 Nonsynonymous SNV C288S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23.3 248641 chr10 14870251 14870251 G A rs770033243 CDNF Stop gain R46X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 248642 chr19 55888361 55888361 G A rs201520200 TMEM190 Nonsynonymous SNV G21R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 248643 chr3 128616475 128616475 T G rs781738719 ACAD9 Nonsynonymous SNV S185R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 248644 chr17 80963039 80963039 T A rs775247805 B3GNTL1 Synonymous SNV R152R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 248645 chr4 165798507 165798507 T C rs150754288 APELA Synonymous SNV F8F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.672 248646 chr1 109793894 109793894 A G rs200447397 CELSR2 Nonsynonymous SNV Q398R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 248647 chr4 183721190 183721190 G A TENM3 Nonsynonymous SNV V2596M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 248648 chr16 705350 705350 C T rs368933652 WDR90 Nonsynonymous SNV R534C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.7 248649 chr18 25727739 25727739 C G rs146386375 CDH2 Nonsynonymous SNV E24Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 248650 chr3 142074243 142074243 C A XRN1 Nonsynonymous SNV K1256N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 248651 chr18 29122716 29122716 G A rs759572082 DSG2 Synonymous SNV T745T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.644 248652 chr3 15298274 15298274 G A SH3BP5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.769 248653 chr9 140069894 140069894 G A rs774404371 ANAPC2 Nonsynonymous SNV A684V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.814 248654 chr12 85497795 85497795 G A rs146525952 LRRIQ1 Nonsynonymous SNV V1075I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.472 248655 chr3 155210631 155210631 G A rs773701811 PLCH1 Nonsynonymous SNV P720S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 248656 chr3 156864398 156864398 - A rs546580246 CCNL1 0 0 0.003 0 0 0 0 1 0 0 0 0 248657 chr18 3452093 3452093 A G TGIF1 Nonsynonymous SNV Q39R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.802 248658 chr5 1882003 1882003 G A IRX4 Synonymous SNV V72V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.73 248659 chr16 2546516 2546516 A T TBC1D24 Nonsynonymous SNV N123Y 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 248660 chr12 96386500 96386500 T C rs377384630 HAL Nonsynonymous SNV I17V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.75 248661 chr12 96641121 96641121 C T rs118124881 ELK3 Nonsynonymous SNV T204M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Likely benign 25.3 248662 chr5 24537649 24537649 C T rs751277074 CDH10 Synonymous SNV K122K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.04 248663 chr19 8399819 8399819 G A rs201921116 KANK3 Nonsynonymous SNV P298S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.846 248664 chr1 152058204 152058204 G A rs766149904 TCHHL1 Nonsynonymous SNV H652Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.67 248665 chr1 152325327 152325327 T A FLG2 Synonymous SNV T1645T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.037 248666 chr13 114088137 114088137 C T rs376266488 ADPRHL1 Nonsynonymous SNV R142Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 248667 chr3 194387187 194387187 G A rs368683979 LSG1 Nonsynonymous SNV P114L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 248668 chr5 41159190 41159190 T C C6 Nonsynonymous SNV E617G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.1 248669 chr18 64176415 64176415 A T CDH19 Nonsynonymous SNV S549T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.092 248670 chr3 195481111 195481111 G T rs73079395 MUC4 Nonsynonymous SNV L814M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.172 248671 chr3 195497121 195497121 T C rs79706438 MUC4 Nonsynonymous SNV N168S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.085 248672 chr16 19557783 19557783 C T CCP110 Nonsynonymous SNV P943S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 248673 chr3 195925188 195925188 T C rs73077068 ZDHHC19 Nonsynonymous SNV E303G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.393 248674 chr3 196236401 196236401 G A rs11926701 SMCO1 Nonsynonymous SNV R64W 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.4 248675 chr3 196236533 196236533 G A rs9869292 SMCO1 Nonsynonymous SNV H20Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.882 248676 chr5 55472090 55472090 A G rs146312133 ANKRD55 Synonymous SNV H67H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.061 248677 chr3 196921387 196921387 C G DLG1 Nonsynonymous SNV G131A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.954 248678 chr3 2944579 2944579 A C CNTN4 Nonsynonymous SNV Q38P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 248679 chr16 28167639 28167639 G A rs367627786 XPO6 Nonsynonymous SNV R285W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 248680 chr20 23402025 23402025 C G rs36106773 NAPB Synonymous SNV G5G 0 0.005 0 0 0 2 0 0 0 0 0 0 9.923 248681 chr10 89692927 89692927 A G rs144545031 PTEN Synonymous SNV A137A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.397 248682 chr16 30581715 30581715 G A rs1020544425 ZNF688 Nonsynonymous SNV P104L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.12 248683 chr16 30904259 30904259 C G BCL7C Nonsynonymous SNV R61P 0 0 0 2 0 0 0.005 0 0 0 0 0 34 248684 chr13 46543542 46543542 C T ZC3H13 Nonsynonymous SNV C1046Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 248685 chr10 96058299 96058299 C T rs770035869 PLCE1 Synonymous SNV T1469T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.7 248686 chr20 31044170 31044170 G C rs139616661 NOL4L Synonymous SNV G46G 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 7.445 248687 chr19 1066031 1066031 C - ARHGAP45 R3Gfs*82 0.002 0 0 0 2 0 0 0 0 0 0 0 248688 chr3 4358390 4358390 G T SETMAR Synonymous SNV R217R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.4 248689 chr20 34317288 34317288 C T RBM39 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 248690 chr13 75880609 75880609 T C TBC1D4 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 248691 chr19 11475312 11475312 C T rs372805400 PLPPR2 Synonymous SNV F410F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.99 248692 chr20 36850988 36850988 C A rs35524973 KIAA1755 Nonsynonymous SNV R411S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 248693 chr3 4759060 4759060 A G rs760338353 ITPR1 Nonsynonymous SNV I1690V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 248694 chr16 67006885 67006885 C T rs199839623 CES3 Nonsynonymous SNV T189M 0 0 0 2 0 0 0.005 0 0 0 0 0 21.4 248695 chr3 49700719 49700719 C G BSN Nonsynonymous SNV R3710G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 248696 chr19 15302326 15302326 G A rs116239440 NOTCH3 Synonymous SNV I315I 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.78 248697 chr3 52326883 52326883 C T rs758823918 GLYCTK Nonsynonymous SNV P438L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 248698 chr10 88423522 88423522 C T OPN4 Nonsynonymous SNV P454L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.944 248699 chr19 1611720 1611720 C T rs149962284 TCF3 Nonsynonymous SNV A648T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.927 248700 chr5 127597487 127597487 C T rs372206279 FBN2 Nonsynonymous SNV G2769S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 248701 chr5 127637089 127637089 C T FBN2 Nonsynonymous SNV G2011S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 248702 chr14 105353016 105353016 G A rs778731128 CEP170B Nonsynonymous SNV A744T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 248703 chr16 74946202 74946202 T C WDR59 Nonsynonymous SNV K428R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.62 248704 chr3 58520136 58520136 G A rs751580992 ACOX2 Nonsynonymous SNV R92W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 248705 chr14 20898061 20898061 G T rs199615190 KLHL33 Synonymous SNV A258A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.19 248706 chr3 77651644 77651644 T C rs868180675 ROBO2 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 248707 chr3 81691938 81691938 T C rs80338671 GBE1 Nonsynonymous SNV Y329C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 248708 chr16 84031872 84031872 C G rs148068586 NECAB2 Nonsynonymous SNV D286E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.005 248709 chr19 17922784 17922784 T G rs45462394 B3GNT3 Synonymous SNV A324A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.073 248710 chr5 140962814 140962814 G A rs202061556 DIAPH1 Synonymous SNV D184D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.96 248711 chr4 10027570 10027570 G A rs144215444 SLC2A9 Synonymous SNV D7D 0 0.005 0.003 0 0 2 0 1 0 0 0 0 9.318 248712 chr4 100571189 100571189 G A C4orf54 Synonymous SNV P1539P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 248713 chr4 100572974 100572974 G A C4orf54 Synonymous SNV F944F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.109 248714 chr20 61981898 61981898 G A rs201980705 CHRNA4 Synonymous SNV L289L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.914 248715 chr11 117109501 117109501 C G rs777014311 RNF214 Nonsynonymous SNV L98V 0 0 0 2 0 0 0.005 0 0 0 0 0 14.43 248716 chr5 148407812 148407812 T G SH3TC2 Nonsynonymous SNV T495P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 248717 chr19 2421968 2421968 C A TMPRSS9 Synonymous SNV R723R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.871 248718 chr1 197481033 197481033 T C rs527950252 DENND1B Nonsynonymous SNV Y547C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 248719 chr4 119952955 119952955 C G SYNPO2 Nonsynonymous SNV R1009G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.221 248720 chr21 30698748 30698748 C G rs147328273 BACH1 Nonsynonymous SNV D201E 0 0.005 0 0 0 2 0 0 0 0 0 0 22.9 248721 chr4 123270462 123270462 A G rs371625475 KIAA1109 Nonsynonymous SNV E4477G 0 0 0.003 0 0 0 0 1 0 0 0 0 29 248722 chr11 12278399 12278399 G A rs374602882 MICAL2 Nonsynonymous SNV R761H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 248723 chr17 1680008 1680008 C T rs115672275 SERPINF1 Synonymous SNV G136G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 20.3 248724 chr1 20224118 20224118 A G rs201938614 OTUD3 Nonsynonymous SNV N190S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.4 248725 chr4 13548579 13548579 G A rs140585762 LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 9.719 248726 chr10 124344791 124344791 G A rs376655390 DMBT1 Synonymous SNV T465T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.054 248727 chr10 124344809 124344809 A G rs374007159 DMBT1 Synonymous SNV L471L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.05 248728 chr1 206224735 206224735 C T rs781847029 AVPR1B Nonsynonymous SNV R99C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 32 248729 chr4 155529674 155529674 C A rs374053381 FGG Nonsynonymous SNV Q265H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 248730 chr5 176836522 176836522 C A F12 Nonsynonymous SNV A3S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 248731 chr4 160264503 160264503 C T rs188622665 RAPGEF2 Synonymous SNV H906H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 248732 chr5 178634716 178634716 C T rs201261427 ADAMTS2 Nonsynonymous SNV G230E 0.004 0.003 0 0 5 1 0 0 0 0 0 0 10.27 248733 chr10 135098662 135098662 C T rs752431597 TUBGCP2 Nonsynonymous SNV V521M 0.002 0 0 0 2 0 0 0 0 0 0 0 35 248734 chr4 17506024 17506024 G A rs181584528 QDPR Synonymous SNV A60A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.83 248735 chr1 2160359 2160359 G T SKI Nonsynonymous SNV A52S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 248736 chr6 12163724 12163724 A G rs201118758 HIVEP1 Nonsynonymous SNV Y2396C 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.9 248737 chr21 47722025 47722025 G C C21orf58 Nonsynonymous SNV P180R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 248738 chr4 3494884 3494884 G A rs144158112 DOK7 Nonsynonymous SNV G81R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 19.71 248739 chr4 38690423 38690423 C T rs368422949 KLF3 Nonsynonymous SNV S92L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 248740 chr4 39846408 39846408 C G PDS5A Nonsynonymous SNV G1139A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 248741 chr17 18077147 18077147 G A rs200456053 MYO15A Nonsynonymous SNV R3468Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 248742 chr17 18855616 18855616 C A rs200035118 SLC5A10 Nonsynonymous SNV A33D 0 0 0 2 0 0 0.005 0 0 0 0 0 32 248743 chr19 44933357 44933357 G A rs200963322 ZNF229 Synonymous SNV L527L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.739 248744 chr6 36978804 36978804 C T rs371671447 FGD2 Nonsynonymous SNV A119V 0.003 0 0 0 4 0 0 0 0 0 0 0 29 248745 chr11 1263245 1263245 C T rs374115377 MUC5B Nonsynonymous SNV S1712L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.454 248746 chr6 37611703 37611703 G A rs375230040 MDGA1 Synonymous SNV I806I 0.003 0 0 0 3 0 0 0 0 0 0 0 12.73 248747 chr17 25937156 25937156 C T rs369797872 KSR1 Synonymous SNV R763R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.78 248748 chr6 42231051 42231051 T C rs753336796 TRERF1 Nonsynonymous SNV M631V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.7 248749 chr6 42942689 42942689 C T rs201678533 PEX6 Nonsynonymous SNV E324K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 23.8 248750 chr4 76522389 76522389 T A rs182108470 CDKL2 Nonsynonymous SNV Y351F 0 0 0.007 0 0 0 0 2 0 0 0 0 9.393 248751 chr22 38119951 38119959 CCTCCAGAA - rs767219656 TRIOBP R465_S467del 0 0.003 0 0 0 1 0 0 0 0 0 0 248752 chr22 38119973 38120041 TAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAG - TRIOBP R478_P500del 0 0.003 0 0 0 1 0 0 0 0 0 0 248753 chr15 42058532 42058532 T C MGA Nonsynonymous SNV M2542T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 248754 chr15 42143309 42143309 G A rs199856702 SPTBN5 Nonsynonymous SNV R3595W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.3 248755 chr22 44067978 44067978 G T rs745593102 EFCAB6 Nonsynonymous SNV N353K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.162 248756 chr11 5080035 5080035 T C OR52E2 Nonsynonymous SNV I275V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 248757 chr19 50333181 50333181 C T rs147538736 MED25 Synonymous SNV L222L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.75 248758 chr15 48054446 48054446 C T rs76409605 SEMA6D Synonymous SNV A196A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.43 248759 chr1 2522472 2522472 C T rs199926063 MMEL1 Nonsynonymous SNV R766Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 248760 chr4 94750449 94750449 G A rs143419348 ATOH1 Synonymous SNV V124V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.356 248761 chr11 5410646 5410646 G A rs116535306 OR51M1 Synonymous SNV S6S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.755 248762 chr1 2706183 2706183 C G rs374752903 TTC34 Nonsynonymous SNV V505L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.937 248763 chr19 5222736 5222736 G T rs752821383 PTPRS Nonsynonymous SNV P1001T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 248764 chr17 42850722 42850722 G A ADAM11 Nonsynonymous SNV E107K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 248765 chr1 33955167 33955167 C G rs267598560 ZSCAN20 Nonsynonymous SNV P244R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 248766 chr15 73418768 73418768 G T rs751062730 NEO1 Synonymous SNV V245V 0 0 0 2 0 0 0.005 0 0 0 0 0 4.76 248767 chr5 138386706 138386706 G A rs149242794 SIL1 Nonsynonymous SNV R92W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.6 248768 chr6 116574371 116574371 C T rs199879512 TSPYL4 Nonsynonymous SNV M267I 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 248769 chr6 116720448 116720448 T A rs142885560 DSE Nonsynonymous SNV F12Y 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 26.4 248770 chr5 140176552 140176552 C A PCDHA2 Stop gain S668X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 248771 chr15 80452799 80452799 T C FAH Nonsynonymous SNV I121T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 248772 chr5 141336110 141336110 C T rs774340238 PCDH12 Nonsynonymous SNV G436E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 248773 chr5 14474112 14474112 G A rs114451941 TRIO Nonsynonymous SNV A1997T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 248774 chr1 52272551 52272551 C T rs757343623 NRDC Synonymous SNV P675P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 248775 chr15 86278227 86278227 G C rs148526775 AKAP13 Nonsynonymous SNV E1050D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.3 248776 chr6 158902251 158902251 C G rs746738630 TULP4 Synonymous SNV L472L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 248777 chr11 44129562 44129562 A G EXT2 Synonymous SNV P133P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.672 248778 chr15 91491922 91491922 G C rs571594435 UNC45A Synonymous SNV A447A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.158 248779 chr15 99192970 99192970 T C rs538618238 IRAIN 0 0 0 1 0 0 0.003 0 0 0 0 0 14.84 248780 chr2 168102176 168102176 T C rs923234845 XIRP2 Nonsynonymous SNV F1203S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 248781 chr5 167896012 167896012 A G rs748450559 WWC1 Nonsynonymous SNV D1117G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 248782 chr5 169506046 169506046 A C rs755807147 DOCK2 Nonsynonymous SNV S1688R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 248783 chr5 170139862 170139862 C T rs754975322 KCNIP1 Synonymous SNV I22I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 248784 chr5 171627586 171627586 A G rs760270558 EFCAB9 Nonsynonymous SNV Q101R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.198 248785 chr11 6432427 6432427 G A rs141737231 APBB1 Nonsynonymous SNV R51C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 29.1 248786 chr11 6458404 6458404 T C rs375903948 HPX Nonsynonymous SNV H236R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 248787 chr1 84376927 84376927 C G TTLL7 Nonsynonymous SNV E542D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.05 248788 chr19 815726 815726 G A rs370088177 PLPPR3 Synonymous SNV N67N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.29 248789 chr16 16208714 16208714 G A rs191017838 ABCC1 Synonymous SNV L1057L 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign 7.606 248790 chr7 6542665 6542665 T C GRID2IP Nonsynonymous SNV S1013G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 248791 chr5 2748931 2748931 G T rs764393112 IRX2 Nonsynonymous SNV S297R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.214 248792 chr2 182543002 182543002 G A NEUROD1 Synonymous SNV L196L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.582 248793 chr2 182543030 182543030 G A NEUROD1 Synonymous SNV G186G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.424 248794 chr5 32074518 32074518 G A rs150340042 PDZD2 Synonymous SNV G1102G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.459 248795 chr19 9061091 9061091 C T MUC16 Nonsynonymous SNV M8785I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.017 248796 chr5 38884091 38884091 A C rs895790017 OSMR Nonsynonymous SNV H194P 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.38 248797 chr7 30491220 30491220 G A rs5743345 NOD1 Nonsynonymous SNV R605W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 248798 chr20 10026255 10026255 G A rs145365860 ANKEF1 Nonsynonymous SNV V244M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 248799 chr16 28997527 28997527 C T LAT Nonsynonymous SNV L79F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 248800 chr18 7037601 7037601 G A rs142476912 LAMA1 Synonymous SNV A571A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.585 248801 chr16 30116260 30116260 A G rs538193424 GDPD3 Nonsynonymous SNV I297T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 248802 chr2 202400832 202400832 C T rs78719588 C2CD6 Nonsynonymous SNV R473K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.576 248803 chr5 68716110 68716110 T A rs72773422 MARVELD2 Nonsynonymous SNV L300M 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 248804 chr11 59271158 59271158 C T rs780308398 OR4D11 Nonsynonymous SNV T37M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 248805 chr11 76853784 76853784 G A rs781953738 MYO7A Synonymous SNV L16L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 10.34 248806 chr11 7981640 7981640 T C rs202121901 NLRP10 Nonsynonymous SNV N507D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 248807 chr11 61277313 61277313 C G rs1047666565 LRRC10B Nonsynonymous SNV F281L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 248808 chr7 55233123 55233123 A T EGFR Nonsynonymous SNV T358S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 248809 chr7 55468890 55468890 G A rs370026511 LANCL2 Synonymous SNV S234S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 248810 chr7 75401427 75401427 G A CCL26 Nonsynonymous SNV A23V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.33 248811 chr6 11105458 11105458 T G rs772185245 ERVFRD-1 Nonsynonymous SNV Q29P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 248812 chr6 111688911 111688911 G A rs147873857 REV3L Nonsynonymous SNV P2027L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 248813 chr6 111695133 111695133 C T rs897298063 REV3L Synonymous SNV K1475K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.028 248814 chr18 61654402 61654402 C T rs150328649 SERPINB8 Nonsynonymous SNV R159W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.2 248815 chr20 47307488 47307488 C T rs780215978 PREX1 Nonsynonymous SNV E395K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 248816 chr7 98449130 98449130 T G rs145989307 TMEM130 Nonsynonymous SNV D205A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 9.751 248817 chr20 50400989 50400989 C G rs138891224 SALL4 Nonsynonymous SNV G556R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 248818 chr2 236706448 236706448 T C rs752735364 AGAP1 Nonsynonymous SNV I240T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.3 248819 chr11 75136618 75136618 C T rs200249946 KLHL35 Synonymous SNV A398A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 248820 chr16 82131894 82131894 G A rs372570633 HSD17B2 Synonymous SNV T339T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.434 248821 chr2 240009260 240009260 C T rs143329672 HDAC4 Synonymous SNV T808T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 248822 chr6 144835787 144835787 G A rs201062311 UTRN Nonsynonymous SNV R1692H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 248823 chr1 15642942 15642942 A G FHAD1 Synonymous SNV K413K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 248824 chr11 77815467 77815467 G A rs146603801 ALG8 Nonsynonymous SNV S404L 0.004 0 0 0 5 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 248825 chr6 148761514 148761514 C T rs150780087 SASH1 Synonymous SNV S74S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 248826 chr6 149887586 149887586 G A rs11547034 GINM1 Synonymous SNV R12R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.288 248827 chr19 1090126 1090126 C G rs374965254 POLR2E Nonsynonymous SNV V57L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 248828 chr19 1362349 1362349 C T rs202235717 PWWP3A Synonymous SNV H336H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.043 248829 chr20 61869344 61869344 T G BIRC7 Nonsynonymous SNV W147G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 248830 chr19 1495501 1495501 C T rs778384637 REEP6 Synonymous SNV D81D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.6 248831 chr20 16496297 16496297 G C rs146744592 KIF16B Nonsynonymous SNV L82V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 248832 chr11 94759352 94759352 G A rs782695853 KDM4E Nonsynonymous SNV V211M 0.003 0 0 0 4 0 0 0 0 0 0 0 23.7 248833 chr21 28216629 28216629 G A ADAMTS1 Synonymous SNV D215D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.822 248834 chr16 89985718 89985718 C G rs776654211 MC1R Nonsynonymous SNV P18A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.15 248835 chr16 89985907 89985907 G C rs772286882 MC1R Nonsynonymous SNV A81P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26 248836 chr2 37041424 37041424 G A rs746344702 VIT Nonsynonymous SNV E632K 0 0.003 0 0 0 1 0 0 0 0 0 0 35 248837 chr21 35169761 35169761 C T rs768573236 ITSN1 Synonymous SNV H677H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 248838 chr2 37459249 37459249 C T rs562848214 NDUFAF7 Nonsynonymous SNV A19V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.762 248839 chr17 11711164 11711164 G A rs369263311 DNAH9 Nonsynonymous SNV V2846I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 248840 chr1 167666936 167666936 G A rs200248496 RCSD1 Nonsynonymous SNV G305R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.82 248841 chr12 15699637 15699637 C G rs201668779 PTPRO Nonsynonymous SNV L767V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 248842 chr1 169437899 169437899 T C SLC19A2 Synonymous SNV L201L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.053 248843 chr21 40569033 40569033 G C rs754539994 BRWD1 Nonsynonymous SNV P1988A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 248844 chr12 20905324 20905324 T A SLCO1C1 Nonsynonymous SNV L584I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 248845 chr19 6924811 6924811 C T rs376472997 ADGRE1 Synonymous SNV H497H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.846 248846 chr19 7083220 7083220 C T rs780584260 ZNF557 Nonsynonymous SNV P253L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.992 248847 chr6 21595901 21595901 C T SOX4 Nonsynonymous SNV S379F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 248848 chr19 7447991 7447991 G A rs147885114 ARHGEF18 Nonsynonymous SNV R290Q 0 0 0 2 0 0 0.005 0 0 0 0 0 19.45 248849 chr11 119142540 119142540 G A rs730880431 CBL Nonsynonymous SNV R180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 248850 chr19 7711153 7711153 C T rs142105943 STXBP2 Nonsynonymous SNV R456W 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.9 248851 chr1 175365878 175365878 C T rs182253674 TNR Nonsynonymous SNV G348R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 248852 chr20 44639170 44639170 C T rs201691413 MMP9 Synonymous SNV A140A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.24 248853 chr6 35210844 35210844 G C rs147173373 SCUBE3 Synonymous SNV L579L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.332 248854 chr6 36651933 36651933 C T rs769229553 CDKN1A Nonsynonymous SNV R19C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 248855 chr7 151859670 151859670 G T rs149510534 KMT2C Synonymous SNV V3664V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Likely benign 1.102 248856 chr22 25264724 25264724 C A rs761586162 SGSM1 Nonsynonymous SNV P398H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 248857 chr8 2855660 2855660 A G rs200307297 CSMD1 Synonymous SNV N2750N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 2.382 248858 chr12 52960906 52960906 C T rs747912595 KRT74 Synonymous SNV A479A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 248859 chr8 6669210 6669210 C T rs148339184 XKR5 Nonsynonymous SNV G524R 0.003 0 0 0 3 0 0 0 0 0 0 0 9.339 248860 chr22 26892177 26892177 G A rs778652797 TFIP11 Nonsynonymous SNV R540C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 248861 chr20 61477054 61477054 C A DPH3P1 Nonsynonymous SNV F13L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 248862 chr19 11685942 11685942 G A rs147115345 ACP5 Synonymous SNV D287D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 3.891 248863 chr6 46851982 46851982 A G rs143999232 ADGRF5 Nonsynonymous SNV W119R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 248864 chr8 11163738 11163738 G A MTMR9 Nonsynonymous SNV G211R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 248865 chr19 13256109 13256109 G A rs753018455 STX10 Nonsynonymous SNV T106I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.91 248866 chr19 13318681 13318681 - CTG CACNA1A Q2325_A2326insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 248867 chr20 62126215 62126215 C A EEF1A2 Synonymous SNV V188V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.92 248868 chr19 14578399 14578399 C T PKN1 Nonsynonymous SNV T585I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.022 248869 chr12 9074341 9074341 C A PHC1 Nonsynonymous SNV L151I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 248870 chr17 38975147 38975147 G T rs752817112 KRT10 Nonsynonymous SNV S547Y 0 0 0 1 0 0 0.003 0 0 0 0 0 2.626 248871 chr22 37499425 37499425 G A rs560232466 TMPRSS6 Synonymous SNV G11G 0.003 0 0 0 3 0 0 0 0 0 0 0 7.855 248872 chr1 20680398 20680398 C T rs796393832 VWA5B1 Nonsynonymous SNV P1097L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 248873 chr1 210006695 210006695 C A rs773290046 UTP25 Nonsynonymous SNV A185D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.043 248874 chr19 17892574 17892574 A G rs372256567 FCHO1 Nonsynonymous SNV I578V 0 0 0 2 0 0 0.005 0 0 0 0 0 1.184 248875 chr1 220091739 220091739 C T rs113370181 SLC30A10 Synonymous SNV P272P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.6 248876 chr1 22155553 22155553 G A rs16825967 HSPG2 Synonymous SNV S4005S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.43 248877 chr12 6838608 6838608 C A COPS7A Nonsynonymous SNV Q175K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 248878 chr1 22199175 22199175 G C rs10917058 HSPG2 Nonsynonymous SNV L1324V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.8 248879 chr6 90463887 90463887 G A rs765790060 MDN1 Nonsynonymous SNV P960L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 248880 chr19 18885742 18885742 C T rs148081057 CRTC1 Synonymous SNV D486D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 248881 chr1 22214082 22214082 C T rs142194150 HSPG2 Nonsynonymous SNV M263I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.296 248882 chr1 222825633 222825633 G C rs768738866 MIA3 Nonsynonymous SNV V227L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 248883 chr1 22456146 22456146 G A rs16826648 WNT4 Synonymous SNV L92L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.909 248884 chr21 44450006 44450006 T C PKNOX1 Nonsynonymous SNV V252A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.649 248885 chr8 72756191 72756191 G A MSC Nonsynonymous SNV P75S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.289 248886 chr1 227216479 227216479 T C rs199656326 CDC42BPA Synonymous SNV A1374A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.553 248887 chr21 45941776 45941777 TG - TSPEAR Q519Vfs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 248888 chr1 227968303 227968303 G A rs41303119 SNAP47 Nonsynonymous SNV V397I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.064 248889 chr8 77764394 77764394 C T rs753245273 ZFHX4 Nonsynonymous SNV T1746M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 248890 chr8 82615174 82615174 T C rs778797405 ZFAND1 Nonsynonymous SNV I222M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.136 248891 chr8 82626183 82626183 C T rs748856975 ZFAND1 Nonsynonymous SNV M150I 0.001 0 0 0 1 0 0 0 0 0 0 0 25 248892 chr3 13399848 13399848 A - NUP210 P735Lfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 248893 chr8 95677190 95677190 G A ESRP1 Nonsynonymous SNV R264Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 248894 chr19 35758296 35758296 C A rs199499157 LSR Nonsynonymous SNV P417T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.62 248895 chr19 35760373 35760373 G T rs200773644 USF2 Nonsynonymous SNV E29D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 248896 chr21 47695112 47695112 T C MCM3AP Synonymous SNV P662P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.094 248897 chr7 101891892 101891892 G T CUX1 Nonsynonymous SNV R1374L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 248898 chr1 235416099 235416099 T C ARID4B Synonymous SNV T100T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.98 248899 chr19 39226822 39226822 G T rs573400086 CAPN12 Nonsynonymous SNV P504Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 248900 chr2 11802178 11802178 G A rs138433349 NTSR2 Synonymous SNV T271T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.223 248901 chr3 168806898 168806898 T C rs774878202 MECOM Nonsynonymous SNV M963V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.57 248902 chr7 131196111 131196111 G C rs200314792 PODXL Nonsynonymous SNV A61G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.005 248903 chr7 134882810 134882810 G A rs895332762 WDR91 Nonsynonymous SNV R329W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 248904 chr8 143694760 143694760 C T rs148642757 ARC Synonymous SNV P291P 0.002 0.003 0.003 2 2 1 0.005 1 0 0 0 0 13.33 248905 chr7 138713621 138713621 G A rs778114236 ZC3HAV1L Nonsynonymous SNV S196F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 248906 chr22 31521798 31521798 G A rs201675306 INPP5J Nonsynonymous SNV R358H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.496 248907 chr19 42874895 42874895 G A rs73033442 MEGF8 Nonsynonymous SNV V2283M 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 16.71 248908 chr7 139257751 139257751 G A HIPK2 Synonymous SNV I1146I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.534 248909 chr12 85518236 85518236 G C rs760879565 LRRIQ1 Nonsynonymous SNV E1316Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.56 248910 chr1 25228880 25228880 C T rs775262487 RUNX3 Synonymous SNV P327P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 248911 chr22 36897383 36897383 T C rs35813894 FOXRED2 Nonsynonymous SNV K284R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.586 248912 chr7 14733733 14733733 C T rs779959280 DGKB Synonymous SNV T219T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 248913 chr7 14775769 14775769 G A rs10238323 DGKB Synonymous SNV A66A 0.004 0 0.007 0 5 0 0 2 0 0 1 0 12.99 248914 chr8 145095527 145095527 G A rs115434908 SPATC1 Synonymous SNV A275A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.557 248915 chr2 169997026 169997026 G C rs765875054 LRP2 Nonsynonymous SNV P4380A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.14 248916 chr7 150555983 150555983 G A rs370388971 AOC1 Nonsynonymous SNV R568H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 248917 chr7 150768209 150768209 G A rs570613259 SLC4A2 Synonymous SNV T591T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.982 248918 chr1 3392555 3392555 G A rs778489047 ARHGEF16 Nonsynonymous SNV G468R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 248919 chr3 27387625 27387625 C T rs766619923 NEK10 Nonsynonymous SNV R72Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 248920 chr3 27387643 27387643 G A rs201821707 NEK10 Nonsynonymous SNV A66V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.369 248921 chr1 3410962 3410962 C T rs760317014 MEGF6 Nonsynonymous SNV G1368S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 248922 chr9 2186224 2186224 C T rs77070978 SMARCA2 Synonymous SNV S188S 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign/Likely benign 11.97 248923 chr7 156979665 156979665 C T rs551689646 UBE3C Synonymous SNV S427S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 248924 chr9 3288151 3288151 T C rs748119365 RFX3 Synonymous SNV Q277Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.673 248925 chr3 39166975 39166975 C G TTC21A Stop gain Y407X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 248926 chr17 76887006 76887006 T C rs781569818 CEP295NL Nonsynonymous SNV D527G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.883 248927 chr7 26904014 26904014 G A rs137938529 SKAP2 Nonsynonymous SNV P12L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.2 248928 chr7 27284715 27284715 C A EVX1 Nonsynonymous SNV T159N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 248929 chr22 50943023 50943023 C G rs763397456 LMF2 Nonsynonymous SNV S499T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 248930 chr7 28858847 28858847 C T CREB5 Nonsynonymous SNV T354I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 248931 chr12 126138655 126138655 C T rs771932977 TMEM132B Nonsynonymous SNV P391L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 248932 chr7 41730075 41730075 G A rs748897120 INHBA Nonsynonymous SNV R152C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 248933 chr9 77257459 77257459 A G RORB Nonsynonymous SNV Y133C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.46 248934 chr1 52499273 52499273 C A KTI12 Nonsynonymous SNV R54L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 248935 chr17 8221919 8221919 G A rs143720339 ARHGEF15 Nonsynonymous SNV R604H 0 0 0 3 0 0 0.008 0 0 0 0 0 32 248936 chr19 53518160 53518160 A G ERVV-1 Nonsynonymous SNV I273V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.001 248937 chr3 50332590 50332590 G A rs782028192 HYAL3 Synonymous SNV A148A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.806 248938 chr3 51429526 51429526 C T rs782703085 RBM15B Synonymous SNV S232S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 248939 chr3 51749795 51749795 A C rs761059008 GRM2 Nonsynonymous SNV Q291P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 248940 chr19 54600195 54600195 C T rs761473915 OSCAR Synonymous SNV P98P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 248941 chr13 24864978 24864978 G A rs748574948 SPATA13 Synonymous SNV P247P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 248942 chr3 52443571 52443571 C T rs372586694 BAP1 Nonsynonymous SNV G41S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 248943 chr3 52474777 52474777 T C SEMA3G Nonsynonymous SNV T331A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 248944 chr9 99246883 99246883 G A rs760357328 HABP4 Nonsynonymous SNV V323M 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 248945 chr2 207173438 207173438 A G ZDBF2 Nonsynonymous SNV I1396V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 248946 chr7 73245726 73245726 G A rs372585037 CLDN4 Synonymous SNV K65K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.951 248947 chr2 144525582 144525582 C A ARHGAP15 Nonsynonymous SNV N423K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 248948 chr9 111853375 111853375 G T rs199515741 TMEM245 Nonsynonymous SNV P326H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 248949 chr7 83758441 83758441 G A rs763803325 SEMA3A Synonymous SNV L111L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.4 248950 chr7 912157 912157 G T rs200378884 SUN1 Synonymous SNV T630T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.543 248951 chr2 160994288 160994288 C T rs540945009 ITGB6 Synonymous SNV G344G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 248952 chr19 57036962 57036962 A T ZNF471 Nonsynonymous SNV H435L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 26.2 248953 chr8 101534971 101534971 G C rs771921223 ANKRD46 Nonsynonymous SNV P167A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 248954 chr2 170103475 170103475 G T rs766831061 LRP2 Nonsynonymous SNV P977H 0.003 0 0 0 4 0 0 0 0 0 0 0 19.8 248955 chr18 60242482 60242482 T C ZCCHC2 Synonymous SNV N1056N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.672 248956 chr18 61067818 61067818 G A rs35437748 VPS4B Synonymous SNV S201S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 248957 chr9 124929179 124929179 C T rs372895024 MORN5 Synonymous SNV N60N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.524 248958 chr19 58117099 58117099 G C rs151225498 ZNF530 Nonsynonymous SNV S69T 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 0.028 248959 chr2 178301595 178301595 G A AGPS Nonsynonymous SNV R182Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 248960 chr8 124369883 124369883 T A ATAD2 Synonymous SNV A492A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 248961 chr1 985614 985614 C T rs144586153 AGRN Synonymous SNV A1627A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.554 248962 chr9 130575627 130575627 C T rs772430355 FPGS Nonsynonymous SNV A477V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.22 248963 chr20 16360190 16360190 T C KIF16B Synonymous SNV E819E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 248964 chr4 140216894 140216894 G C NDUFC1 Nonsynonymous SNV P20R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.44 248965 chr8 139895406 139895406 G C rs201768836 COL22A1 Nonsynonymous SNV L4V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 248966 chr20 10620279 10620279 G A rs918046091 JAG1 Nonsynonymous SNV A1175V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 22.9 248967 chr9 135205593 135205593 T C rs144164119 SETX Synonymous SNV S464S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 5.107 248968 chr8 144464795 144464795 T A rs200767805 RHPN1 Nonsynonymous SNV S663T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.604 248969 chr15 100269654 100269654 C G rs200602575 LYSMD4 Nonsynonymous SNV E128Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.02 248970 chr9 136517391 136517391 C T rs779140579 DBH Synonymous SNV V453V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.769 248971 chr2 27263006 27263006 T C rs199916552 TMEM214 Synonymous SNV S532S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.045 248972 chr19 12384184 12384184 G - ZNF44 L264Ffs*33 0 0 0 2 0 0 0.005 0 0 0 0 0 248973 chr14 24725219 24725219 G A rs768561754 TGM1 Synonymous SNV Y489Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.306 248974 chr8 145001603 145001603 A C rs187648086 PLEC Nonsynonymous SNV V1230G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 248975 chr2 27802420 27802420 G C rs146586590 C2orf16 Nonsynonymous SNV R994T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 248976 chr19 13216320 13216320 G A rs149836806 TRMT1 Nonsynonymous SNV R533W 0.003 0 0 2 3 0 0.005 0 0 0 0 0 32 248977 chr14 31081445 31081445 G A rs769226899 G2E3 Synonymous SNV K465K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.085 248978 chr14 35050795 35050795 T C rs200656159 SNX6 Nonsynonymous SNV K232R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 248979 chr14 35062333 35062333 G A rs35447190 SNX6 Synonymous SNV H175H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 248980 chr14 35228045 35228045 C A rs150440809 BAZ1A Synonymous SNV S1385S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 248981 chr8 145533508 145533508 C T HSF1 Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 248982 chr14 39901118 39901118 C A rs563794460 FBXO33 Synonymous SNV L83L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.4 248983 chr14 45496503 45496503 C T rs375910485 TOGARAM1 Synonymous SNV G1110G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 248984 chr14 45564444 45564444 T C PRPF39 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 17.12 248985 chr19 15512068 15512068 G C rs753551404 AKAP8L Nonsynonymous SNV R176G 0 0 0 1 0 0 0.003 0 0 0 0 0 24 248986 chr14 45700442 45700442 C T rs189461933 MIS18BP1 Nonsynonymous SNV R499H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.769 248987 chr9 140249159 140249159 A G rs202071318 EXD3 Nonsynonymous SNV F275S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 248988 chr4 186544227 186544227 G T SORBS2 Nonsynonymous SNV P686T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.582 248989 chr9 140468804 140468804 T C rs935662027 DPH7 Nonsynonymous SNV S32G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 248990 chr14 52782103 52782103 T A PTGER2 Synonymous SNV P279P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.41 248991 chr8 22479010 22479010 G A rs187678910 BIN3 Synonymous SNV S181S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 248992 chr10 5144346 5144346 G A rs200129210 AKR1C3 Synonymous SNV S208S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.997 248993 chr20 43564101 43564101 C T rs369306725 PABPC1L Nonsynonymous SNV P510L 0.003 0 0 0 3 0 0 0 0 0 0 0 19.99 248994 chr10 5693279 5693279 G A rs775589907 ASB13 Synonymous SNV C93C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 248995 chr14 59112009 59112009 A G rs372350857 DACT1 Nonsynonymous SNV H223R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 248996 chr2 55408782 55408782 G T CLHC1 Nonsynonymous SNV L163I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 248997 chr15 42457919 42457919 A G VPS39 Synonymous SNV Y592Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 248998 chr14 60591507 60591507 A C rs756987064 PCNX4 Nonsynonymous SNV N639T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 248999 chr2 63175734 63175734 G A rs200523497 EHBP1 Nonsynonymous SNV G585R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 249000 chr19 18104359 18104359 C A KCNN1 Nonsynonymous SNV D456E 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 249001 chr19 18260209 18260209 G T rs568538034 MAST3 Synonymous SNV S1201S 0.002 0 0 3 2 0 0.008 0 0 0 0 0 2.682 249002 chr10 13696479 13696479 G T rs199934183 FRMD4A Nonsynonymous SNV P687Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 249003 chr10 15256333 15256333 G A FAM171A1 Synonymous SNV S418S 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 6.331 249004 chr14 65239547 65239547 G A rs145275995 SPTB Synonymous SNV I1768I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.579 249005 chr14 65266547 65266547 G A rs143293179 SPTB Nonsynonymous SNV R328C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 249006 chr15 56134297 56134297 C T rs200243140 NEDD4 Nonsynonymous SNV R905Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 249007 chr8 41507751 41507751 C A rs550433049 NKX6-3 Synonymous SNV G87G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.327 249008 chr8 41791936 41791936 G A rs769120352 KAT6A Nonsynonymous SNV P1268S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 249009 chr2 228883616 228883616 A T SPHKAP Nonsynonymous SNV S652T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 249010 chr20 60485639 60485639 C T rs78259850 CDH4 Synonymous SNV N413N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.86 249011 chr14 75514722 75514722 C A rs55725216 MLH3 Nonsynonymous SNV R546I 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 1.459 249012 chr14 75515522 75515522 G A rs149962294 MLH3 Synonymous SNV C279C 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.072 249013 chr2 233899471 233899471 C T rs753794485 NEU2 Nonsynonymous SNV R283C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 249014 chr8 69243718 69243718 G A C8orf34-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 249015 chr10 46121708 46121708 A G ZFAND4 Synonymous SNV S521S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 249016 chr4 71510279 71510279 C T ENAM Stop gain Q828X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 249017 chr21 31744496 31744498 GGA - rs772799331 KRTAP13-2 S12del 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 249018 chr20 62494224 62494224 G T rs200473920 ABHD16B Nonsynonymous SNV R444L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.77 249019 chr10 53893649 53893649 C T PRKG1 Nonsynonymous SNV L314F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 249020 chr10 61011272 61011272 C T FAM13C Nonsynonymous SNV S565N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.222 249021 chr14 96813537 96813537 A G ATG2B Nonsynonymous SNV F102L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 249022 chr14 100759082 100759082 G A SLC25A29 Synonymous SNV V84V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.488 249023 chr21 30329728 30329728 T A rs144146451 LTN1 Nonsynonymous SNV M926L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.404 249024 chr3 119328373 119328373 T C rs763712636 PLA1A Nonsynonymous SNV V155A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 249025 chr3 121414143 121414145 GGG - GOLGB1 T1662_L1663delinsI 0.001 0 0 0 1 0 0 0 0 0 0 0 249026 chr3 121414146 121414146 T C GOLGB1 Nonsynonymous SNV T1662A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.916 249027 chr14 105352992 105352992 G A rs200189762 CEP170B Nonsynonymous SNV A736T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.415 249028 chr10 76790504 76790504 G A rs780751688 KAT6B Synonymous SNV A1193A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.675 249029 chr9 119461202 119461202 G A rs121434447 TRIM32 Nonsynonymous SNV R394H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 249030 chr21 45929159 45929160 AT - rs781890406 TSPEAR Y559Cfs*134 0 0 0 1 0 0 0.003 0 0 0 0 0 249031 chr19 39057626 39057626 G C rs150396398 RYR1 Nonsynonymous SNV D4500H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 249032 chr9 124064372 124064372 C T rs774617795 GSN Synonymous SNV G92G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.67 249033 chr21 43259888 43259888 T C rs756335009 PRDM15 Nonsynonymous SNV K276E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 249034 chr10 86131378 86131378 G A rs61745697 CCSER2 Synonymous SNV A190A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.978 249035 chr2 40366763 40366763 C T rs771128762 SLC8A1 Nonsynonymous SNV D739N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 249036 chr21 43496357 43496357 G A rs748896479 UMODL1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 249037 chr21 47655305 47655305 C T MCM3AP Synonymous SNV E1940E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.46 249038 chr10 91143608 91143608 G A rs73369750 IFIT1B Nonsynonymous SNV G180R 0.003 0 0 0 4 0 0 0 1 0 0 0 24.2 249039 chr10 98742790 98742790 A C LCOR Nonsynonymous SNV K858T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 249040 chr9 133570891 133570891 G A rs550383127 EXOSC2 Synonymous SNV T45T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 249041 chr9 135201934 135201934 G C rs140116005 SETX Nonsynonymous SNV S1684C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.1 249042 chr9 136280046 136280046 T - REXO4 Q11Rfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 249043 chr10 105362017 105362017 C T rs762523731 SH3PXD2A Synonymous SNV P867P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.29 249044 chr22 17625983 17625983 G A rs150711823 HDHD5 Synonymous SNV T126T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 249045 chr5 137088928 137088928 - CCG rs750002989 HNRNPA0 G278_S279insG 0 0.003 0 0 0 1 0 0 0 0 0 0 249046 chr22 19511943 19511943 C T rs765505732 CLDN5 Nonsynonymous SNV G31S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.777 249047 chr22 20050876 20050876 G C rs199498849 TANGO2 Nonsynonymous SNV R94P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.45 249048 chr3 160146545 160146545 T C rs142674634 SMC4 Synonymous SNV Y870Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.488 249049 chr3 170108929 170108929 A G rs376055134 SKIL Nonsynonymous SNV M547V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 249050 chr9 140137144 140137144 G A rs143176276 TUBB4B Synonymous SNV E158E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.33 249051 chr5 141024438 141024438 G A rs372761136 FCHSD1 Synonymous SNV D504D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 249052 chr15 56686992 56686992 A G rs749706517 TEX9 Nonsynonymous SNV K188R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 249053 chr5 14690222 14690222 G A rs374063900 OTULIN Synonymous SNV A223A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.62 249054 chr16 31473726 31473726 C T rs373679116 ARMC5 Synonymous SNV L286L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 14.7 249055 chr15 63915038 63915038 G A HERC1 Nonsynonymous SNV A4555V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 249056 chr22 30079688 30079688 A G rs75296199 NF2 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.379 249057 chr22 30795660 30795660 C T rs746270735 SEC14L2 Nonsynonymous SNV P28L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 249058 chr9 35093900 35093900 G A rs752829826 PIGO Synonymous SNV I259I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.62 249059 chr10 135098611 135098611 G A rs138725290 TUBGCP2 Nonsynonymous SNV H538Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 249060 chr19 50376326 50376326 C T rs200711550 AKT1S1 Nonsynonymous SNV R76Q 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 23.1 249061 chr9 71538268 71538268 G A rs141108146 PIP5K1B Synonymous SNV K389K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 249062 chr16 48167610 48167610 G A rs756776112 ABCC12 Synonymous SNV L372L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.629 249063 chr22 36691696 36691696 A G rs200901330 MYH9 Nonsynonymous SNV S1114P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 249064 chr9 8485302 8485302 G A rs767745154 PTPRD Synonymous SNV V605V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.866 249065 chr9 90321802 90321802 G T rs56169226 DAPK1 Nonsynonymous SNV M1272I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 15.2 249066 chr9 95780440 95780441 AC - FGD3 T385Sfs*55 0 0 0.003 0 0 0 0 1 0 0 0 0 249067 chr19 52888042 52888042 G T rs75507701 ZNF880 Synonymous SNV T403T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.038 249068 chr19 52888049 52888049 C A rs75346003 ZNF880 Nonsynonymous SNV Q406K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.255 249069 chr22 50989806 50989806 G A SYCE3 Synonymous SNV D45D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.23 249070 chr19 52888050 52888050 A G rs76053634 ZNF880 Nonsynonymous SNV Q406R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.36 249071 chr9 99064248 99064248 T C rs191153391 HSD17B3 Nonsynonymous SNV M47V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 249072 chr3 126725013 126725013 C T rs61744428 PLXNA1 Synonymous SNV V663V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.95 249073 chr16 66945931 66945931 A C CDH16 Nonsynonymous SNV L457R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 249074 chrX 23898976 23898976 C T rs149224639 APOO Nonsynonymous SNV V35M 0 0 0 5 0 0 0.013 0 0 0 0 1 1.971 249075 chrX 102564607 102564607 T C rs150715509 BEX2 Nonsynonymous SNV R132G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 249076 chrX 107420240 107420240 T G COL4A6 Synonymous SNV G839G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 249077 chrX 112065522 112065522 A G rs968416865 AMOT Nonsynonymous SNV L278P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 249078 chr22 47370218 47370218 G A rs199657694 TBC1D22A Nonsynonymous SNV G272S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.624 249079 chr3 42679248 42679248 A T NKTR Nonsynonymous SNV R684S 0.003 0 0 0 3 0 0 0 0 0 0 0 20.9 249080 chrX 125685837 125685837 G A rs753668766 DCAF12L1 Nonsynonymous SNV A252V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.387 249081 chr22 50488628 50488628 C T rs201087187 TTLL8 Nonsynonymous SNV A70T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 249082 chr16 74709591 74709594 TCTG - rs561839347 MLKL D369Efs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 249083 chrX 75649428 75649428 C T rs782128323 MAGEE1 Nonsynonymous SNV P369S 0 0 0 3 0 0 0.008 0 0 0 0 1 3.998 249084 chrX 135098806 135098806 G A rs151178361 SLC9A6 Synonymous SNV L413L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.05 249085 chrX 153524218 153524218 G A rs150445227 TKTL1 Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.019 249086 chrX 30237004 30237004 A G rs7878409 MAGEB2 Nonsynonymous SNV T103A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.012 249087 chr2 109399185 109399185 G A rs532940205 RANBP2 Nonsynonymous SNV R3079Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 249088 chr3 49698198 49698198 G T rs753949712 BSN Nonsynonymous SNV A2974S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 249089 chr2 109746005 109746005 C T SH3RF3 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 249090 chr19 57286688 57286688 G A rs769372919 ZIM2 Nonsynonymous SNV P318S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.007 249091 chr3 51691609 51691609 T C rs754216593 RAD54L2 Synonymous SNV P1080P 0.003 0 0 0 3 0 0 0 0 0 0 0 5.886 249092 chrX 48675741 48675741 T C rs782073213 HDAC6 Synonymous SNV N600N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.241 249093 chr3 52427005 52427005 A G rs143443167 DNAH1 Nonsynonymous SNV I3480V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.6 249094 chr3 169802275 169802275 G A rs372339784 GPR160 Nonsynonymous SNV R172H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.416 249095 chr3 52557443 52557443 A G STAB1 Nonsynonymous SNV T2381A 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 249096 chrX 5811384 5811384 G T rs758237273 NLGN4X Nonsynonymous SNV T642N 0 0 0.01 0 0 0 0 3 0 0 1 0 1.303 249097 chrX 67943585 67943585 C T rs776252289 STARD8 Nonsynonymous SNV R893W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 249098 chrX 68424292 68424292 G T rs917115818 LINC00269 0 0 0.003 0 0 0 0 1 0 0 0 0 0.98 249099 chr2 128367445 128367445 G A MYO7B Nonsynonymous SNV V1016I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 249100 chr2 128409223 128409223 G A rs201452952 GPR17 Nonsynonymous SNV R305H 0.003 0 0.003 0 4 0 0 1 0 0 0 0 32 249101 chrX 77268551 77268551 C T ATP7A Nonsynonymous SNV T783I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 249102 chr2 131674684 131674684 C T ARHGEF4 Synonymous SNV S1055S 0.003 0 0 0 3 0 0 0 0 0 0 0 5.59 249103 chrX 9862710 9862710 C T rs372373323 SHROOM2 Synonymous SNV A254A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 249104 chr10 101578577 101578577 C T rs56199535 ABCC2 Nonsynonymous SNV R768W 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 34 249105 chr10 105176483 105176483 T A rs763424295 PDCD11 Nonsynonymous SNV V585D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 249106 chr3 190126178 190126178 A G rs201367228 CLDN16 Nonsynonymous SNV N223S 0.004 0 0.003 1 5 0 0.003 1 0 0 0 0 22.5 249107 chr10 112058550 112058550 - A rs771389351 SMNDC1 0 0 0.003 0 0 0 0 1 0 0 0 0 249108 chr16 4829770 4829770 G A rs147729577 SEPTIN12 Synonymous SNV A202A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.18 249109 chr19 804613 804613 G A rs150661031 PTBP1 Nonsynonymous SNV A173T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.83 249110 chr17 1399411 1399411 G C INPP5K Synonymous SNV L411L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.511 249111 chr3 195594456 195594456 C T rs148323328 TNK2 Nonsynonymous SNV V922M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.887 249112 chr10 118423536 118423536 G A rs781785558 C10orf82 Nonsynonymous SNV P196S 0 0 0.003 0 0 0 0 1 0 0 0 0 6 249113 chr4 103592537 103592537 C G rs762175890 MANBA Nonsynonymous SNV Q377H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 249114 chr17 17701628 17701628 G A rs368587743 RAI1 Nonsynonymous SNV R1789Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 249115 chr17 17754237 17754237 G A rs148693597 TOM1L2 Synonymous SNV D317D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.44 249116 chr10 123844501 123844501 A G TACC2 Nonsynonymous SNV H829R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 249117 chr16 20986639 20986639 C T rs201350642 DNAH3 Synonymous SNV T2679T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.716 249118 chr19 9001869 9001869 G A rs73493671 MUC16 Nonsynonymous SNV A13460V 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 17.39 249119 chr19 9003587 9003587 C T rs111616391 MUC16 Synonymous SNV T13351T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 13.75 249120 chr11 9850951 9850951 T C SBF2 Nonsynonymous SNV R1249G 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 17.73 249121 chr4 120214281 120214281 C T rs200613778 USP53 Nonsynonymous SNV T995M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 249122 chr11 13514070 13514070 G T rs201237944 PTH Nonsynonymous SNV A77D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.055 249123 chr11 17351747 17351747 A C rs778986801 NUCB2 Nonsynonymous SNV N329T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.997 249124 chr17 26107857 26107857 G A rs147847330 NOS2 Nonsynonymous SNV R314C 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 15.95 249125 chr2 179590266 179590266 T C rs373348905 TTN Nonsynonymous SNV K5645E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 249126 chr3 42251374 42251374 C T rs146401885 TRAK1 Synonymous SNV D546D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 249127 chr16 30116217 30116217 A T GDPD3 Nonsynonymous SNV H311Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 249128 chr16 30780617 30780617 C T rs758427239 RNF40 Synonymous SNV N686N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.635 249129 chr10 17113572 17113572 G T CUBN Synonymous SNV V826V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.306 249130 chr1 23419461 23419461 C G LUZP1 Nonsynonymous SNV A432P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 249131 chr19 9676890 9676890 T C ZNF121 Nonsynonymous SNV H300R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 249132 chr1 23419548 23419548 G A rs371689592 LUZP1 Nonsynonymous SNV R403W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 249133 chr1 10352105 10352105 A G KIF1B Synonymous SNV R459R 0 0 0 4 0 0 0.01 0 0 0 0 0 13.79 249134 chr4 147561684 147561684 C T POU4F2 Synonymous SNV I318I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 249135 chr10 3181119 3181119 G A rs375964432 PITRM1 Nonsynonymous SNV A867V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 249136 chr17 35902410 35902410 G A rs149247296 SYNRG Nonsynonymous SNV L750F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 249137 chr16 66785396 66785396 C T rs201898933 DYNC1LI2 Synonymous SNV Q33Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.48 249138 chr16 67968707 67968707 C T rs151231421 PSMB10 Nonsynonymous SNV V235M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.447 249139 chr2 196822038 196822038 G A rs371925699 DNAH7 Stop gain R1009X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 249140 chr2 197559839 197559839 A C rs199761560 CCDC150 Nonsynonymous SNV M195L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.679 249141 chr2 197631418 197631418 G T GTF3C3 Stop gain Y803X 0.002 0 0 2 2 0 0.005 0 0 0 0 0 41 249142 chr16 74662357 74662357 G A rs201418176 RFWD3 Synonymous SNV Y595Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.636 249143 chr2 20823675 20823675 C A HS1BP3 Nonsynonymous SNV A301S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.764 249144 chr16 81248621 81248621 C T PKD1L2 Synonymous SNV E214E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.478 249145 chr6 167752150 167752150 C T rs143689423 TTLL2 Synonymous SNV T21T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.523 249146 chr1 1396201 1396201 - G ATAD3C Frameshift insertion V296Gfs*20 0.001 0 0 1 1 0 0.003 0 0 0 0 0 249147 chr4 22517244 22517244 G A ADGRA3 Nonsynonymous SNV A55V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 249148 chr2 219513733 219513733 G A rs753676337 ZNF142 Nonsynonymous SNV R300C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 249149 chr6 26240791 26240791 C T rs749009605 H4C6 Synonymous SNV R46R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 249150 chr17 4437106 4437106 G A rs202104023 SPNS2 Synonymous SNV T434T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 249151 chr17 4461998 4461998 - GA rs746633607 GGT6 Frameshift insertion P233Lfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 249152 chr4 366758 366758 A C ZNF141 Nonsynonymous SNV K102Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 249153 chr10 8093218 8093218 C T rs372178049 GATA3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.807 249154 chr10 82036195 82036195 G A rs372757656 MAT1A Synonymous SNV Y235Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.69 249155 chr10 85973045 85973045 C T rs745676496 CDHR1 Nonsynonymous SNV R661W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 249156 chr17 183071 183071 C T rs547839985 LOC100506388 0.001 0 0 0 1 0 0 0 0 0 0 0 8.217 249157 chr10 95930983 95930983 A G rs371638668 PLCE1 Synonymous SNV S205S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.658 249158 chr10 99343370 99343370 A T rs141723621 ANKRD2 Nonsynonymous SNV Q291L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 249159 chr11 1016707 1016707 T C rs761256408 MUC6 Nonsynonymous SNV M2032V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.317 249160 chr17 3807313 3807313 G A rs769080014 P2RX1 Nonsynonymous SNV R145C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 249161 chr11 64029548 64029548 G A PLCB3 Nonsynonymous SNV D613N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 249162 chr1 16263753 16263753 C T rs151095742 SPEN Synonymous SNV L3374L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 249163 chr11 10626007 10626007 T C rs762271320 MRVI1 Nonsynonymous SNV N248S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 249164 chr2 242814588 242814588 G T rs371087280 RTP5 Nonsynonymous SNV G294V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 249165 chr11 1093419 1093487 CATCACCACCACCACCACGGTGACCCCAACCCCGACACCCACCGGCACACAGACCCCAACCACGGTACT - MUC2 V1753_T1775del 0 0 0.003 0 0 0 0 1 0 0 0 0 249166 chr11 1097727 1097727 C T rs758422363 MUC2 Nonsynonymous SNV P2274S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 249167 chr6 74189758 74189758 A G rs777554120 MTO1 Synonymous SNV P346P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.662 249168 chr11 65685010 65685011 AG - C11orf68 Stop gain Y268* 0.002 0 0 0 2 0 0 0 0 0 0 0 249169 chr4 90816482 90816482 C T rs142099842 MMRN1 Synonymous SNV N120N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 249170 chr11 118502154 118502154 T G PHLDB1 Nonsynonymous SNV N686K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 249171 chr11 66523864 66523864 C T rs746802405 C11orf80 Synonymous SNV G119G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 249172 chr1 112308639 112308639 G A rs17850758 DDX20 Synonymous SNV T531T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.39 249173 chr11 67219217 67219217 G C rs753147953 GPR152 Nonsynonymous SNV P327A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.117 249174 chr4 22414871 22414871 T A rs779952033 ADGRA3 Synonymous SNV I722I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 249175 chr1 17698749 17698749 C G PADI6 Nonsynonymous SNV S3R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.361 249176 chr2 43451901 43451901 C T rs767859947 ZFP36L2 Nonsynonymous SNV A348T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.9 249177 chr11 71727160 71727160 C G rs142208518 NUMA1 Nonsynonymous SNV Q463H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.84 249178 chr1 147094084 147094084 C G BCL9 Nonsynonymous SNV P972R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 249179 chr5 127518626 127518626 A G SLC12A2 Nonsynonymous SNV K1082E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 249180 chr1 1855221 1855221 - AG rs578234038 CFAP74 Frameshift insertion F1461Sfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 249181 chr17 77044095 77044095 C T rs542771055 C1QTNF1 Synonymous SNV N175N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 249182 chr1 186276836 186276836 A G PRG4 Nonsynonymous SNV E528G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.61 249183 chr17 29857478 29857478 G A rs747610392 RAB11FIP4 Synonymous SNV S336S 0.003 0 0 0 4 0 0 0 0 0 0 0 8.548 249184 chr17 78220437 78220437 G A rs767796154 SLC26A11 Stop gain W428X 0 0 0 1 0 0 0.003 0 0 0 0 0 45 249185 chr11 14666107 14666107 C T rs368832959 PDE3B Synonymous SNV Y162Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 249186 chr11 99715882 99715882 C T rs747847108 CNTN5 Synonymous SNV G81G 0.003 0 0.003 0 4 0 0 1 0 0 0 0 11.97 249187 chr1 155148429 155148429 C G rs147520018 TRIM46 Nonsynonymous SNV P5A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 249188 chr5 139781734 139781734 G A rs778108331 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV G61D 0.003 0 0 0 3 0 0 0 0 0 0 0 4.07 249189 chr2 72742187 72742187 T C rs200922200 EXOC6B Synonymous SNV Q215Q 0.002 0 0 0 2 0 0 0 0 0 0 0 2.427 249190 chr17 79982595 79982595 C T rs201106510 LRRC45 Synonymous SNV A103A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 249191 chr17 80038742 80038742 T A FASN Nonsynonymous SNV N2218Y 0 0 0 1 0 0 0.003 0 0 0 0 0 16.46 249192 chr1 156639615 156639615 C T rs760029425 NES Synonymous SNV G1455G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 249193 chr17 80918934 80918934 C G rs550306136 B3GNTL1 Nonsynonymous SNV E64Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 249194 chr1 158549370 158549370 C G rs145972190 OR10X1 Nonsynonymous SNV S107T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.006 249195 chr1 160616689 160616689 G A rs145666807 SLAMF1 Nonsynonymous SNV S16F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.436 249196 chr5 1466909 1466909 G A rs148166675 LPCAT1 Synonymous SNV L459L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.94 249197 chr1 161166039 161166039 C T rs376460245 ADAMTS4 Nonsynonymous SNV V338I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 249198 chr11 34184250 34184250 C T rs150199433 ABTB2 Synonymous SNV S697S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.267 249199 chr11 35684992 35684992 C G TRIM44 Nonsynonymous SNV S111R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 249200 chr11 45249177 45249177 C T rs556499026 PRDM11 Synonymous SNV L1001L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.926 249201 chr3 113376713 113376713 C T rs763408964 USF3 Synonymous SNV T1272T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.956 249202 chr1 173802530 173802530 G A rs759658461 DARS2 Nonsynonymous SNV R170Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29 249203 chr11 47612217 47612217 G A C1QTNF4 Nonsynonymous SNV T49I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 249204 chr11 4825247 4825247 C A rs772696869 OR52R1 Nonsynonymous SNV A122S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 249205 chr17 42744919 42744919 A G rs138599725 MEIOC Nonsynonymous SNV D547G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 249206 chr3 119325824 119325824 T A rs752718217 PLA1A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 249207 chr3 120357389 120357389 G A rs143556739 HGD Nonsynonymous SNV R307C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.2 249208 chr1 179815786 179815786 C A TOR1AIP2 Nonsynonymous SNV R278L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 249209 chr7 149493523 149493523 C T rs372414600 SSPO 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.82 249210 chr5 127664406 127664406 C T rs187786356 FBN2 Nonsynonymous SNV D1485N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.6 249211 chr3 126132953 126132953 C T CFAP100 Synonymous SNV N52N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.972 249212 chr17 55183660 55183660 C A rs369506994 AKAP1 Nonsynonymous SNV L279M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.603 249213 chr5 136975627 136975627 G A rs139964597 KLHL3 Nonsynonymous SNV R233C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 249214 chr17 58236630 58236630 C G rs769149664 CA4 Nonsynonymous SNV Q262E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.9 249215 chr12 6933716 6933716 A T GPR162 Stop gain R218X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 249216 chr12 6933718 6933718 A T GPR162 Nonsynonymous SNV R218S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.32 249217 chr5 353891 353891 C T rs755882103 AHRR Nonsynonymous SNV R41W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 249218 chr3 13670540 13670540 A G FBLN2 Nonsynonymous SNV K855R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.869 249219 chr3 140419738 140419738 A G rs202123806 TRIM42 Synonymous SNV T698T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.266 249220 chr5 140723695 140723695 G T rs747941691 PCDHGA3 Nonsynonymous SNV R32L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 249221 chr5 140768442 140768442 G T rs201053346 PCDHGB4 Nonsynonymous SNV V331L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 249222 chr1 207195610 207195610 T G rs61743516 C1orf116 Nonsynonymous SNV D254A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 249223 chr1 207196253 207196253 G A rs34858608 C1orf116 Nonsynonymous SNV P40S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 249224 chr1 207818658 207818658 T G rs115047031 CR1L Nonsynonymous SNV L27R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.775 249225 chr3 151155354 151155354 T G rs200423886 IGSF10 Nonsynonymous SNV E359A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 249226 chr1 24417427 24417427 C T rs192306602 MYOM3 Nonsynonymous SNV R431Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.8 249227 chr11 57155232 57155232 G A rs753831959 PRG2 Nonsynonymous SNV T191I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 249228 chr11 57369555 57369555 C T SERPING1 Nonsynonymous SNV P200S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 249229 chr3 17053469 17053469 C T rs140113907 PLCL2 Synonymous SNV H751H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 249230 chr11 58170046 58170046 G A rs376053061 OR5B3 Synonymous SNV V279V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.136 249231 chr12 21453447 21453447 A C rs775750567 SLCO1A2 Nonsynonymous SNV F249V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 249232 chr5 66448577 66448577 C A rs987417949 MAST4 Synonymous SNV A875A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.7 249233 chr3 184046721 184046721 G A rs751996924 EIF4G1 Synonymous SNV P1173P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.23 249234 chr12 47629405 47629405 A T rs776626698 PCED1B Nonsynonymous SNV T187S 0.004 0 0 0 5 0 0 0 0 0 0 0 0.001 249235 chr12 47629406 47629406 C T rs759651168 PCED1B Nonsynonymous SNV T187I 0.004 0 0 0 5 0 0 0 0 0 0 0 13.02 249236 chr11 6190844 6190844 T C OR52B2 Nonsynonymous SNV K238R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 249237 chr1 26581807 26581807 C T rs376383693 CEP85 Synonymous SNV L67L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.92 249238 chr5 79752286 79752286 C G rs540280891 ZFYVE16 Nonsynonymous SNV R1233G 0.002 0 0 0 2 0 0 0 0 0 0 0 33 249239 chr5 894942 894942 C T rs753514251 TRIP13 Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 249240 chr5 95128850 95128850 C A rs763493521 RHOBTB3 Nonsynonymous SNV S603Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 249241 chr5 180669174 180669174 G A rs749806666 RACK1 Nonsynonymous SNV T94M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 249242 chr18 3582017 3582017 G A rs151268879 DLGAP1 Synonymous SNV N305N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.718 249243 chr18 5397267 5397267 G A rs143155897 EPB41L3 Synonymous SNV S655S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 249244 chr1 38027220 38027220 C T rs561955832 DNALI1 Nonsynonymous SNV R154W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 249245 chr5 36171756 36171756 A G rs139756076 SKP2 Synonymous SNV V60V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.052 249246 chr11 66108507 66108507 C G BRMS1 Nonsynonymous SNV K123N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 249247 chr3 38833583 38833583 A G rs947179485 SCN10A Nonsynonymous SNV F116S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 249248 chr11 66488620 66488620 G A rs147766428 SPTBN2 Nonsynonymous SNV S31L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 249249 chr11 67069238 67069238 C T rs575807581 ANKRD13D Synonymous SNV P516P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 249250 chr6 111498730 111498730 C T SLC16A10 Synonymous SNV S268S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.84 249251 chr11 67232322 67232322 A C rs769569393 TMEM134 Nonsynonymous SNV S138A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 249252 chr5 43675730 43675730 A G rs139893206 NNT Nonsynonymous SNV I787V 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 4.268 249253 chr11 6739966 6739966 T C rs117889439 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.696 249254 chr5 473406 473406 C G rs540024518 SLC9A3-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 7.544 249255 chr18 29044311 29044311 G A rs191249015 DSG3 Nonsynonymous SNV D413N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 249256 chr3 42956765 42956765 T A ZNF662 Nonsynonymous SNV N426K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.35 249257 chr1 248084625 248084625 C G rs6692365 OR2T8 Synonymous SNV L102L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.144 249258 chr1 248084627 248084627 C T rs61857490 OR2T8 Nonsynonymous SNV P103L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 249259 chr1 248084631 248084631 A C rs28689982 OR2T8 Synonymous SNV T104T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 249260 chr8 101226144 101226144 C G SPAG1 Nonsynonymous SNV N511K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 249261 chr18 34647446 34647446 G A KIAA1328 Synonymous SNV Q282Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.916 249262 chr18 44057598 44057598 C T rs886053822 LOXHD1 Nonsynonymous SNV R459H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 19.27 249263 chr11 72578911 72578911 G A rs140557765 FCHSD2 Nonsynonymous SNV S436L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 249264 chr3 48508574 48508574 A G rs759481016 TREX1 Nonsynonymous SNV R164G 0.002 0 0 0 2 0 0 0 0 0 0 0 24 249265 chr3 48638411 48638411 G A rs373227178 UQCRC1 Synonymous SNV G321G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.83 249266 chr3 49842296 49842296 G A INKA1 Nonsynonymous SNV G218E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 249267 chr6 144081712 144081712 C T PHACTR2 Nonsynonymous SNV A210V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 249268 chr6 146126573 146126573 G A rs765335173 FBXO30 Synonymous SNV G323G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 249269 chr3 58095334 58095334 A G rs749520238 FLNB Nonsynonymous SNV K744R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 249270 chr3 58553012 58553012 T C rs762976325 FAM107A Nonsynonymous SNV K84E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 249271 chr11 94759986 94759986 G A rs782721546 KDM4E Nonsynonymous SNV G422E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.209 249272 chr12 109650725 109650725 G A rs373495005 ACACB Nonsynonymous SNV V1112M 0.003 0 0 0 3 0 0 0 0 0 0 0 32 249273 chr1 75037158 75037158 C G rs752395772 ERICH3 Synonymous SNV G1412G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.391 249274 chr12 113796514 113796514 G T rs775199853 PLBD2 Nonsynonymous SNV G37C 0.003 0 0 0 3 0 0 0 0 0 0 0 13.96 249275 chr8 144812315 144812315 G A rs779300653 FAM83H Synonymous SNV S146S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 249276 chr8 144922930 144922931 CT - NRBP2 S26Rfs*88 0 0.003 0 0 0 1 0 0 0 0 0 0 249277 chr8 145065579 145065579 C T GRINA Nonsynonymous SNV P63L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 249278 chr12 110813989 110813989 A G ANAPC7 Synonymous SNV L498L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.123 249279 chr12 112460376 112460376 G A rs377230317 ERP29 Nonsynonymous SNV G236R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.59 249280 chr12 113307812 113307812 G C rs147818920 RPH3A Nonsynonymous SNV G188A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 249281 chr4 107847035 107847035 C T rs780702553 DKK2 Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 249282 chr12 118457556 118457556 G C RFC5 Nonsynonymous SNV G84R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 249283 chr19 4409023 4409023 A G CHAF1A Nonsynonymous SNV E76G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 249284 chr4 122853906 122853906 C T rs200041218 TRPC3 Synonymous SNV K96K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.39 249285 chr19 5610083 5610083 G A rs369176219 SAFB2 Nonsynonymous SNV R407W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 249286 chr8 22675195 22675195 T C rs778277762 PEBP4 Synonymous SNV E104E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 249287 chr4 140188177 140188177 G C rs200850973 MGARP Nonsynonymous SNV A100G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.558 249288 chr19 50361856 50361856 C T rs7256094 PTOV1 Synonymous SNV F329F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.14 249289 chr8 37729870 37729870 G A rs147857729 RAB11FIP1 Nonsynonymous SNV T817M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.015 249290 chr19 50482480 50482480 C T rs15983 VRK3 Synonymous SNV L382L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.315 249291 chr19 50491733 50491733 G A rs73932268 VRK3 Synonymous SNV S321S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 14.23 249292 chr19 50491735 50491735 T C rs56407496 VRK3 Nonsynonymous SNV S321G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.9 249293 chr19 50498078 50498078 C T rs10409482 VRK3 Nonsynonymous SNV C238Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 17.14 249294 chr19 50498138 50498138 G A rs10410075 VRK3 Nonsynonymous SNV S218L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.6 249295 chr19 50504056 50504056 T C rs11879616 VRK3 Synonymous SNV S151S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.731 249296 chr19 50504097 50504097 T C rs11879620 VRK3 Nonsynonymous SNV T138A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.004 249297 chr19 50510862 50510862 A G rs11547883 VRK3 Nonsynonymous SNV F121L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.003 249298 chr19 50511060 50511060 G T rs11547882 VRK3 Nonsynonymous SNV P55T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.092 249299 chr19 50512606 50512606 G A rs2033262 VRK3 Nonsynonymous SNV S59F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24 249300 chr19 50545025 50545025 A G rs10419876 ZNF473 Nonsynonymous SNV S47G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.001 249301 chr19 50545070 50545070 A G rs10419911 ZNF473 Nonsynonymous SNV S62G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.061 249302 chr19 50547945 50547945 A G rs73932407 ZNF473 Nonsynonymous SNV N70S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.46 249303 chr19 50548191 50548191 C T rs16981705 ZNF473 Nonsynonymous SNV T152M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22 249304 chr19 50548367 50548367 C T rs61745068 ZNF473 Nonsynonymous SNV R211C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23 249305 chr19 50548443 50548443 G A rs61730172 ZNF473 Nonsynonymous SNV R236Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.23 249306 chr19 50548626 50548626 A G rs16981706 ZNF473 Nonsynonymous SNV E297G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16.88 249307 chr19 50548687 50548687 T C rs10419043 ZNF473 Synonymous SNV F317F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.099 249308 chr19 50548918 50548918 C T rs60764032 ZNF473 Synonymous SNV N394N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 13.03 249309 chr12 26568365 26568365 G A rs747657816 ITPR2 Nonsynonymous SNV R2393C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 249310 chr19 50549461 50549461 A G rs10424220 ZNF473 Synonymous SNV G575G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.052 249311 chr19 50549661 50549661 C T rs10424809 ZNF473 Nonsynonymous SNV T642I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.1 249312 chr19 50549684 50549684 T G rs10426374 ZNF473 Nonsynonymous SNV S650A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.03 249313 chr19 50550127 50550127 A G rs11881187 ZNF473 Synonymous SNV T797T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.023 249314 chr19 50735237 50735237 C G rs34498817 MYH14 Nonsynonymous SNV P334A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 9.471 249315 chr20 34241447 34241447 T C rs756850685 RBM12 Nonsynonymous SNV K600E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 249316 chr8 55540716 55540716 T C RP1 Nonsynonymous SNV L1425P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.158 249317 chr19 9061229 9061229 C T rs780855833 MUC16 Synonymous SNV K8739K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.533 249318 chr19 50979533 50979533 A G rs61744307 FAM71E1 Nonsynonymous SNV V38A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 249319 chr19 50984002 50984002 G A rs10410120 EMC10 Synonymous SNV P189P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.151 249320 chr12 30783819 30783819 A T rs752522016 IPO8 Nonsynonymous SNV F825Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 249321 chr19 51015030 51015030 G T rs113025783 ASPDH Nonsynonymous SNV A165D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.893 249322 chr12 30823947 30823947 G A rs770061285 IPO8 Synonymous SNV N126N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 249323 chr20 35242722 35242722 C G rs139719845 SLA2 Nonsynonymous SNV W217C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 249324 chr20 35944797 35944797 A G rs762967642 MANBAL Synonymous SNV K79K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.912 249325 chr12 32772641 32772641 A G rs201186597 FGD4 Nonsynonymous SNV M266V 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 22.9 249326 chr6 17606204 17606204 C T rs779440559 FAM8A1 Nonsynonymous SNV R353W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 249327 chr19 9090201 9090201 C A MUC16 Nonsynonymous SNV E538D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.61 249328 chr8 67578707 67578707 G A rs148295439 VCPIP1 Synonymous SNV L163L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.017 249329 chr12 39726713 39726713 G A rs149718388 KIF21A Nonsynonymous SNV P859L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.621 249330 chr12 42729742 42729742 C T rs201787242 PPHLN1 Nonsynonymous SNV P13L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 249331 chr12 44770496 44770496 T C rs117394252 TMEM117 Nonsynonymous SNV I192T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 249332 chr8 95444705 95444705 A T rs978889075 FSBP Nonsynonymous SNV V185E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.36 249333 chr13 99947834 99947834 T A rs369665605 GPR183 Nonsynonymous SNV E189V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.525 249334 chr12 49177040 49177040 G T ADCY6 Nonsynonymous SNV P60T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 249335 chr9 109687839 109687839 C T rs145644535 ZNF462 Nonsynonymous SNV P549L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 249336 chr12 57114719 57114719 G A NACA Nonsynonymous SNV P199S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.965 249337 chr2 178080732 178080732 A G rs189317226 HNRNPA3 Synonymous SNV L101L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.777 249338 chr19 17322932 17322932 G A rs780135957 MYO9B Nonsynonymous SNV R2096H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 249339 chr14 24031063 24031063 G A rs149095512 LOC102724814 0.002 0 0 0 2 0 0 0 0 0 0 0 8.285 249340 chr14 24035299 24035299 G C rs752099350 AP1G2 Nonsynonymous SNV A52G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.883 249341 chr20 746178 746178 C T rs546240059 SLC52A3 Nonsynonymous SNV V81M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.397 249342 chr12 71972593 71972593 G A rs80013431 LGR5 Synonymous SNV S406S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 249343 chr14 33014897 33014897 A G AKAP6 Synonymous SNV Q346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 249344 chr14 34269803 34269808 GGCGGG - rs765002537 NPAS3 G741_G742del 0.002 0 0 0 2 0 0 0 0 0 0 0 249345 chr6 629869 629869 G C rs752136385 EXOC2 Nonsynonymous SNV R130G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 249346 chr14 47342655 47342655 G A rs189825660 MDGA2 Synonymous SNV H842H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.913 249347 chr7 127990977 127990977 T C rs571493333 PRRT4 Nonsynonymous SNV E878G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 249348 chr19 35828773 35828773 C T rs118047424 CD22 Synonymous SNV S106S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 249349 chr19 35832256 35832256 A C rs570968940 CD22 Synonymous SNV R329R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.28 249350 chr4 81196107 81196107 C T rs201539600 FGF5 Stop gain R134X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 249351 chr19 36125167 36125167 C G rs145466071 RBM42 Nonsynonymous SNV P314A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 249352 chr7 137801395 137801395 A G rs781542563 AKR1D1 Nonsynonymous SNV H282R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.046 249353 chr21 43523902 43523902 A G rs376572326 UMODL1-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.546 249354 chr19 36832247 36832247 C G rs772861913 ZFP14 Nonsynonymous SNV E162Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.016 249355 chr19 37118182 37118182 A G rs766724243 ZNF382 Synonymous SNV E460E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 249356 chr2 209049701 209049701 G A rs377540865 C2orf80 Nonsynonymous SNV R33W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 249357 chr13 111290636 111290636 C T rs768705379 NAXD Nonsynonymous SNV T314I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 249358 chr9 137734092 137734092 C T rs768460206 COL5A1 Synonymous SNV F1820F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 19.91 249359 chr13 113772804 113772804 G T F7 Nonsynonymous SNV V211F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 249360 chr14 65268070 65268070 G A rs757412174 SPTB Synonymous SNV H232H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.462 249361 chr14 68123199 68123199 C A rs201178551 VTI1B Nonsynonymous SNV Q158H 0.002 0 0 0 2 0 0 0 0 0 0 0 22 249362 chr19 39899319 39899319 C T ZFP36 Nonsynonymous SNV R321C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 249363 chr19 39907205 39907205 C T PLEKHG2 Synonymous SNV D128D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.4 249364 chr19 40710459 40710459 G A rs373992417 MAP3K10 Nonsynonymous SNV V311M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 249365 chr2 220337052 220337052 C T rs769032357 SPEG Synonymous SNV I1313I 0 0 0 2 0 0 0.005 0 0 0 0 0 16.24 249366 chr2 220354319 220354319 C G SPEG Nonsynonymous SNV P2860R 0 0 0 2 0 0 0.005 0 0 0 0 0 13.51 249367 chr13 31822065 31822065 A G rs369251610 B3GLCT Nonsynonymous SNV K141E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 249368 chr19 41704707 41704707 C G rs773132133 CYP2S1 Nonsynonymous SNV R250G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.67 249369 chr13 37427699 37427699 C T rs140504903 SMAD9 Nonsynonymous SNV V336I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 249370 chr19 42729898 42729898 C G rs375365588 ZNF526 Nonsynonymous SNV S448C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 249371 chr5 113740296 113740296 C T rs752937345 KCNN2 Synonymous SNV S460S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.82 249372 chr22 18274069 18274083 TGCCGAGAGAACGCT - MICAL3 0 0 0 1 0 0 0.003 0 0 0 0 0 249373 chr13 39452356 39452356 A G rs144702001 FREM2 Synonymous SNV L2919L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.339 249374 chr7 151860599 151860599 T C rs567529073 KMT2C Nonsynonymous SNV I3355V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.001 249375 chr13 41523990 41523990 C A rs769633777 ELF1 Nonsynonymous SNV A137S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.237 249376 chr22 19197993 19197993 G C CLTCL1 Nonsynonymous SNV T1031S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 249377 chr5 1210668 1210668 C T rs756989097 SLC6A19 Synonymous SNV S151S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.99 249378 chr5 122718693 122718693 G A CEP120 Nonsynonymous SNV S590F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 249379 chr13 46716435 46716435 T A rs372830368 LCP1 Synonymous SNV L498L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.87 249380 chr14 93684999 93684999 A C UBR7 Nonsynonymous SNV Q243P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.254 249381 chr5 132232340 132232340 G C rs767370581 AFF4 Nonsynonymous SNV P661R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 249382 chr13 53616122 53616122 G T OLFM4 Nonsynonymous SNV E145D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.49 249383 chr13 58208882 58208882 C G PCDH17 Nonsynonymous SNV N734K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 249384 chr14 95080786 95080786 G A rs56871159 SERPINA3 Nonsynonymous SNV R3K 0.003 0 0 0 4 0 0 0 0 0 0 0 0.242 249385 chr5 135228155 135228155 G A rs371222135 IL9 Synonymous SNV N120N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.742 249386 chr13 77526655 77526655 A G rs570108577 ACOD1 Nonsynonymous SNV H15R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.55 249387 chr14 97313634 97313634 T G rs560242666 VRK1 Synonymous SNV G109G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.99 249388 chr7 27135357 27135357 C T HOXA1 Nonsynonymous SNV V59M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 249389 chr14 100141910 100141910 G A rs775070784 HHIPL1 Nonsynonymous SNV E766K 0 0 0.007 0 0 0 0 2 0 0 0 0 14.55 249390 chr14 101451163 101451163 G A rs186808777 SNORD114-24 0 0 0.003 0 0 0 0 1 0 0 0 0 2.591 249391 chr14 102918839 102918839 G A rs148647252 TECPR2 Nonsynonymous SNV R1172H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 249392 chr19 47991630 47991630 G C NAPA Nonsynonymous SNV S268C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 249393 chr5 140250299 140250299 C G PCDHA11 Synonymous SNV R537R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.35 249394 chr2 241402908 241402908 G T GPC1 Nonsynonymous SNV A288S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.02 249395 chr14 104205326 104205326 T C PPP1R13B Nonsynonymous SNV E876G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 249396 chr9 79244208 79244208 - A rs746210937 PRUNE2 0 0.003 0 0 0 1 0 0 0 0 0 0 249397 chr5 140782777 140782777 C T rs369033480 PCDHGA9 Synonymous SNV T86T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.891 249398 chr19 49248930 49248930 C T rs147003407 IZUMO1 Nonsynonymous SNV D63N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.425 249399 chr5 140953564 140953578 GGAGGAGGAGGAGGA - rs753696691 DIAPH1 P607_P611del 0.002 0 0 0 2 0 0 0 0 0 0 0 249400 chr5 141052396 141052396 C T rs373215839 ARAP3 Nonsynonymous SNV R397H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 249401 chr7 135073576 135073576 C T rs182850674 CNOT4 Synonymous SNV Q563Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 249402 chr14 23829883 23829883 C T rs199828925 EFS Nonsynonymous SNV A60T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 249403 chr14 24677312 24677312 A C rs149589610 TSSK4 Nonsynonymous SNV N326T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 249404 chr14 44975686 44975686 T C rs532380844 FSCB Nonsynonymous SNV R169G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 249405 chr14 50101452 50101452 T C rs761527467 DNAAF2 Nonsynonymous SNV Y139C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.63 249406 chr5 176318435 176318435 C T rs554647830 HK3 Synonymous SNV A71A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 9.235 249407 chrX 53615480 53615480 A G HUWE1 Synonymous SNV A1492A 0 0.005 0 0 0 2 0 0 0 1 0 0 8.761 249408 chr14 58047857 58047857 A G rs147425664 SLC35F4 Synonymous SNV A291A 0 0 0.01 0 0 0 0 3 0 0 0 0 9.063 249409 chrX 67941969 67941969 C T rs780574035 STARD8 Nonsynonymous SNV S767L 0 0.005 0 0 0 2 0 0 0 1 0 0 23.5 249410 chrX 99920312 99920312 G A rs200784551 SRPX2 Nonsynonymous SNV R202Q 0 0.005 0 0 0 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 19.76 249411 chr14 64989635 64989635 C T rs767300797 ZBTB1 Synonymous SNV G471G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.699 249412 chr15 72492820 72492820 T A rs772970021 PKM Nonsynonymous SNV N421I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.6 249413 chr2 120015050 120015050 T C rs760044050 STEAP3 Synonymous SNV S401S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.287 249414 chr7 29915501 29915501 T A WIPF3 Nonsynonymous SNV L49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 249415 chr15 74704323 74704323 G A rs145966521 SEMA7A Nonsynonymous SNV P428L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.47 249416 chr7 33376069 33376069 A G BBS9 Nonsynonymous SNV I223V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 249417 chr5 38904105 38904105 T C OSMR Synonymous SNV H371H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 249418 chr15 81295372 81295372 C G TLNRD1 Nonsynonymous SNV L254V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 249419 chr1 3751501 3751501 G A rs748424047 CEP104 Synonymous SNV D491D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.32 249420 chr7 44097845 44097845 T C rs201466446 DBNL Nonsynonymous SNV Y121H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 249421 chr14 93119289 93119289 C T rs747970987 RIN3 Nonsynonymous SNV A557V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 249422 chr14 93171041 93171041 C T rs773731547 LGMN Synonymous SNV A344A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 249423 chr8 134145833 134145833 A G rs116299430 TG Nonsynonymous SNV N2706S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.054 249424 chr1 10381868 10381868 G A rs189631845 KIF1B Nonsynonymous SNV V725M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 249425 chr20 741802 741802 G A rs139137879 SLC52A3 Synonymous SNV R426R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.81 249426 chr8 142367403 142367403 C T rs374224196 GPR20 Synonymous SNV L207L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.911 249427 chr15 90216512 90216512 T - PLIN1 K60Rfs*57 0.002 0 0 0 2 0 0 0 0 0 0 0 249428 chr15 90246370 90246370 A T rs757043957 WDR93 Nonsynonymous SNV M165L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.49 249429 chr3 73432564 73432564 C T rs150079299 PDZRN3 Synonymous SNV P749P 0.005 0 0 1 6 0 0.003 0 0 0 0 0 0.566 249430 chr3 99536721 99536721 C T rs566681976 HP09053 0 0 0 1 0 0 0.003 0 0 0 0 0 8.494 249431 chr15 34517773 34517773 G T rs371911554 EMC4 Synonymous SNV S41S 0 0 0.007 0 0 0 0 2 0 0 0 0 6.611 249432 chr1 20998592 20998592 G A rs752207289 KIF17 Nonsynonymous SNV S854F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.49 249433 chr8 145698680 145698680 A T rs143532599 KIFC2 Nonsynonymous SNV T762S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 6.363 249434 chr2 188349646 188349648 AAA - TFPI F142del 0 0 0 1 0 0 0.003 0 0 0 0 0 249435 chr1 22201197 22201197 G A rs767958264 HSPG2 Nonsynonymous SNV T1148M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 249436 chr1 24077853 24077853 G A rs141832703 ELOA Nonsynonymous SNV R279H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 249437 chr15 44168470 44168470 C T rs12442297 PIN4P1 0 0 0.014 0 0 0 0 4 0 0 2 0 5.584 249438 chr20 33345739 33345747 TGCTGCTGT - rs747481290 NCOA6 Q283_Q285del 0.001 0 0 0 1 0 0 0 0 0 0 0 249439 chr16 1550458 1550458 C T rs147383579 TELO2 Synonymous SNV L371L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.793 249440 chr16 1877343 1877343 T C rs1045424436 FAHD1 Nonsynonymous SNV V38A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.222 249441 chr8 22458760 22458760 C T rs202142296 C8orf58 Nonsynonymous SNV R136C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.9 249442 chr15 49285108 49285108 T C rs754443634 SECISBP2L Nonsynonymous SNV N835S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.324 249443 chr20 34773198 34773198 C T rs142551778 EPB41L1 Synonymous SNV F180F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15.73 249444 chr16 2283054 2283054 C T rs200965712 E4F1 Nonsynonymous SNV S309L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.17 249445 chr1 27685226 27685226 C T rs139507949 MAP3K6 Nonsynonymous SNV G845R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 249446 chr8 11637275 11637275 C T rs8191612 NEIL2 Nonsynonymous SNV R42W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.4 249447 chr8 11666158 11666158 C G rs138750911 FDFT1 Synonymous SNV A44A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.095 249448 chr6 116542332 116542332 T C rs200743137 NT5DC1 Synonymous SNV L215L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.997 249449 chr15 58306378 58306378 G C ALDH1A2 Nonsynonymous SNV D73E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 249450 chr2 210557565 210557565 C T rs144699107 MAP2 Nonsynonymous SNV A220V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.732 249451 chr1 2117559 2117559 G A rs552526038 FAAP20 Nonsynonymous SNV A31V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.484 249452 chr1 31351494 31351494 G C SDC3 Nonsynonymous SNV L78V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 249453 chr6 118887335 118887335 C G rs201125021 CEP85L Nonsynonymous SNV S126T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.746 249454 chr1 32797314 32797314 G A rs760852226 HDAC1 Nonsynonymous SNV A376T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 249455 chr1 33613101 33613101 G T rs201458914 TRIM62 Nonsynonymous SNV H248N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.24 249456 chr1 33772759 33772759 C T rs779032254 A3GALT2 Nonsynonymous SNV E211K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 249457 chr2 218745682 218745682 G A rs61745427 TNS1 Synonymous SNV D331D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.805 249458 chr6 127469931 127469931 C T rs761483287 RSPO3 Nonsynonymous SNV S79L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 249459 chr2 219266393 219266393 C T rs2227250 CTDSP1 Synonymous SNV S58S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.12 249460 chr2 219507309 219507309 G A rs200514966 ZNF142 Synonymous SNV P1310P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.861 249461 chr15 68695332 68695332 G A rs769431213 ITGA11 Nonsynonymous SNV P30L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 19.45 249462 chr2 219619016 219619016 G A rs115517150 TTLL4 Synonymous SNV T1168T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.91 249463 chr2 219867977 219867977 T C rs11893183 CFAP65 Nonsynonymous SNV N1858S 0.001 0.005 0 3 1 2 0.008 0 0 0 0 0 13.66 249464 chr2 219873809 219873809 C T rs75862278 CFAP65 Nonsynonymous SNV R1545Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 29 249465 chr8 42958849 42958849 C T rs926673143 POMK Nonsynonymous SNV T53I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.04 249466 chr15 73029202 73029202 A C rs749034070 BBS4 Nonsynonymous SNV T278P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.13 249467 chr2 220239719 220239719 G C rs200988234 DNPEP Nonsynonymous SNV P394R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 249468 chr15 74000727 74000730 CTGT - rs775920988 CD276 C258Sfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 249469 chr8 57025711 57025711 C T rs747742890 MOS Synonymous SNV A277A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.31 249470 chr2 220332018 220332018 C T rs114572727 SPEG Synonymous SNV L1002L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.696 249471 chr2 220361201 220361201 A G rs13386485 SPEGNB Nonsynonymous SNV H42R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 249472 chr1 42900959 42900959 T C ZMYND12 Nonsynonymous SNV N162S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.553 249473 chr1 43212427 43212427 G T P3H1 Nonsynonymous SNV P718T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.138 249474 chr2 220420988 220420988 A G rs78420199 OBSL1 Synonymous SNV L1455L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.18 249475 chr2 220423009 220423009 C T rs115915650 OBSL1 Synonymous SNV G1133G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.44 249476 chr2 220423125 220423125 C T rs186692362 OBSL1 Nonsynonymous SNV A1095T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.91 249477 chr1 43308523 43308523 C T rs771684891 ERMAP Nonsynonymous SNV R350C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 249478 chr2 220424014 220424014 G A rs115417324 OBSL1 Synonymous SNV P1053P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 8.636 249479 chr2 223289516 223289516 G T rs185535896 SGPP2 Synonymous SNV G65G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 6.279 249480 chr1 45407190 45407190 T C rs151056457 EIF2B3 Nonsynonymous SNV K148E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 249481 chr15 81598803 81598803 C T rs373629180 IL16 Nonsynonymous SNV S540L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 249482 chr3 169896635 169896637 TGG - rs778969283 PHC3 T23del 0 0 0 1 0 0 0.003 0 0 0 0 0 249483 chr3 182743573 182743573 C T rs377320336 MCCC1 Synonymous SNV T450T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.71 249484 chr8 144944807 144944807 G A rs192089443 EPPK1 Nonsynonymous SNV T872M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 249485 chr2 232100039 232100039 T C rs147777576 ARMC9 Nonsynonymous SNV I242T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 24.1 249486 chr1 53925361 53925361 G C rs749298992 DMRTB1 Nonsynonymous SNV G79R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.816 249487 chr15 90321328 90321328 G A rs752665246 MESP2 Synonymous SNV S319S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.711 249488 chr6 160505034 160505034 C A IGF2R Nonsynonymous SNV D1962E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 249489 chr9 107591325 107591325 T C rs936654977 ABCA1 Nonsynonymous SNV K663E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 249490 chr16 58538096 58538096 A G NDRG4 Star tloss M74V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 249491 chr2 239039668 239039668 G A rs769377014 ESPNL Synonymous SNV A403A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.389 249492 chr16 61891114 61891114 G A rs759267294 CDH8 Synonymous SNV T192T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.029 249493 chr16 1004476 1004476 C G rs115313199 LMF1 Nonsynonymous SNV L19F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 249494 chr2 23907308 23907308 C T rs749071317 KLHL29 Nonsynonymous SNV A327V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 249495 chr16 11370197 11370197 C T rs191601030 PRM2 Nonsynonymous SNV E11K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 249496 chr16 1143540 1143540 G C rs565955146 C1QTNF8 Synonymous SNV T240T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.585 249497 chr6 20781449 20781449 G A rs34113701 CDKAL1 Synonymous SNV P197P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.16 249498 chr1 78163134 78163134 T C USP33 Synonymous SNV E868E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.701 249499 chr1 79385965 79385965 A T rs750945729 ADGRL4 Nonsynonymous SNV I455N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 249500 chr16 1506123 1506123 C A CLCN7 Nonsynonymous SNV A279S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 249501 chr16 1560954 1560954 G A rs61749517 IFT140 Synonymous SNV D1460D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 2.828 249502 chr1 89237139 89237139 G A rs780960176 PKN2 Nonsynonymous SNV E63K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 249503 chr1 93070866 93070866 G A rs200192259 EVI5 Stop gain Q674X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 249504 chr16 84256489 84256489 G A rs374096501 KCNG4 Synonymous SNV I298I 0.003 0 0 0 3 0 0 0 0 0 0 0 12.15 249505 chr6 33653295 33653295 G A ITPR3 Nonsynonymous SNV D1823N 0.003 0 0 0 3 0 0 0 0 0 0 0 11.26 249506 chr16 27078762 27078762 A G rs758225169 C16orf82 Nonsynonymous SNV Q149R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.358 249507 chr16 87637896 87637896 - CTG JPH3 A157_V158insA 0.003 0 0 0 3 0 0 0 0 0 0 0 249508 chr2 37292929 37292929 G A rs758224927 HEATR5B Synonymous SNV T434T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.86 249509 chr2 37543577 37543577 T C rs377326066 PRKD3 Nonsynonymous SNV S31G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.54 249510 chr22 17447173 17447173 G A rs146770232 GAB4 Synonymous SNV L216L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.473 249511 chr16 3086391 3086391 G A rs551807255 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 249512 chr16 30913845 30913845 C G rs397516652 CTF1 Synonymous SNV P196P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Benign/Likely benign 11.68 249513 chr8 66619386 66619386 A G rs140868400 MTFR1 Nonsynonymous SNV N187S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 249514 chr16 3447309 3447309 C T rs1033303354 ZSCAN32 Synonymous SNV E83E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 249515 chr8 8235451 8235451 G C rs17668988 PRAG1 Synonymous SNV P156P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.883 249516 chr6 42934534 42934534 C - rs267608227 PEX6 I650Sfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 249517 chr1 118657950 118657950 G A rs140959339 SPAG17 Nonsynonymous SNV R144W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 28.6 249518 chr16 4650221 4650221 A G rs771696989 C16orf96 Nonsynonymous SNV D1110G 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 249519 chr9 103046871 103046871 C G INVS Nonsynonymous SNV S359C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 249520 chr22 30127267 30127267 G A rs760168004 ZMAT5 Nonsynonymous SNV R154W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 249521 chr6 53519556 53519556 C T rs903201035 KLHL31 Nonsynonymous SNV C172Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 249522 chr2 85554169 85554169 T C TGOLN2 Nonsynonymous SNV Q229R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 249523 chr1 153122555 153122555 G T rs776816347 SPRR2G Nonsynonymous SNV P11H 0.001 0 0 0 1 0 0 0 0 0 0 0 14 249524 chr16 67229693 67229693 G A rs746988034 E2F4 Nonsynonymous SNV G273S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.4 249525 chr16 67876824 67876838 CAGCAGCAGCAGCAG - THAP11 Q128_Q132del 0 0 0.003 0 0 0 0 1 0 0 0 0 249526 chr6 63990425 63990425 C T rs755041573 LGSN Stop gain W344X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 36 249527 chr16 70713774 70713774 C A rs139962217 MTSS2 Synonymous SNV L99L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 249528 chr16 70732615 70732615 G A rs200282045 VAC14 Synonymous SNV H353H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.605 249529 chr16 71605981 71605981 C T rs541765127 TAT-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.881 249530 chr16 72821390 72821390 G A rs972211127 ZFHX3 Synonymous SNV D2681D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.628 249531 chr22 38369822 38369822 C T rs770105416 SOX10 Nonsynonymous SNV A361T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 249532 chr16 77334293 77334293 C A rs114018664 ADAMTS18 Nonsynonymous SNV M675I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 249533 chr3 111264065 111264065 C T CD96 Synonymous SNV Y78Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.31 249534 chr17 7475701 7475702 AA - rs769240766 SENP3-EIF4A1 0.004 0 0 0 5 0 0 0 0 0 0 0 249535 chr17 7831135 7831135 C G rs764187033 KCNAB3 Synonymous SNV G84G 0.003 0 0 0 4 0 0 0 0 0 0 0 6.089 249536 chr16 84513555 84513555 G A MEAK7 Synonymous SNV H445H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.511 249537 chr4 106196288 106196288 C T TET2 Stop gain Q1541X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 249538 chr1 161198858 161198858 T C rs149811597 TOMM40L Synonymous SNV H235H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 249539 chr9 79322919 79322919 A G rs189966394 PRUNE2 Nonsynonymous SNV L1424P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 249540 chr9 79324184 79324184 G A rs141059513 PRUNE2 Synonymous SNV N1002N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.165 249541 chr9 79438638 79438638 T C rs147383247 PRUNE2 Synonymous SNV L222L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.729 249542 chr1 169555466 169555466 C T rs973743818 F5 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 249543 chr17 18010542 18010542 C A rs143553376 DRG2 Synonymous SNV I361I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.4 249544 chr9 95797673 95797673 G A rs375889528 FGD3 Synonymous SNV P611P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.433 249545 chr9 97372298 97372298 G A rs766005419 FBP1 Nonsynonymous SNV R158W 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 29.5 249546 chrX 106066595 106066595 T C rs775398836 TBC1D8B Synonymous SNV L242L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.817 249547 chrX 119509248 119509248 A G rs377649780 ATP1B4 Nonsynonymous SNV E195G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 249548 chr3 130743427 130743427 G T rs199663895 ASTE1 Nonsynonymous SNV P242T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 249549 chr17 29171026 29171026 A T rs149463497 ATAD5 Nonsynonymous SNV K779N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 249550 chr7 11053516 11053516 G A rs375628395 PHF14 Synonymous SNV K396K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 249551 chr9 140123289 140123289 G A rs138915839 RNF224 Synonymous SNV T74T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 249552 chr7 121652170 121652170 G C rs74821923 PTPRZ1 Nonsynonymous SNV V1024L 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 11.82 249553 chr7 121652338 121652338 A C rs76373682 PTPRZ1 Nonsynonymous SNV K1080Q 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Benign 13.67 249554 chr1 197872043 197872043 G C rs749121180 C1orf53 Synonymous SNV A88A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 249555 chr17 17069154 17069154 G A rs553534921 MPRIP Nonsynonymous SNV A1449T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 249556 chr17 18152710 18152710 C T rs142586846 FLII Nonsynonymous SNV D542N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 249557 chr3 14939506 14939506 C T rs60413292 FGD5 Synonymous SNV H990H 0 0.003 0.007 2 0 1 0.005 2 0 0 0 0 Benign 15.41 249558 chr3 14964034 14964034 T C rs61749461 FGD5 Synonymous SNV H1262H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 2.856 249559 chr3 150658308 150658308 T A rs567709615 CLRN1 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.29 249560 chr9 32571011 32571011 G A rs769852730 NDUFB6 Nonsynonymous SNV H74Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 249561 chr3 154146940 154146940 C T GPR149 Synonymous SNV L155L 0 0 0 2 0 0 0.005 0 0 0 0 0 2.757 249562 chrX 129203393 129203393 C T rs146601898 ELF4 Nonsynonymous SNV G357S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 249563 chr17 25757087 25757087 G A rs111809181 TBC1D3P5 0 0 0.003 0 0 0 0 1 0 0 0 0 3.311 249564 chrX 44401246 44401246 T C rs372120535 FUNDC1 Nonsynonymous SNV M44V 0.003 0 0 0 4 0 0 0 1 0 0 0 3.234 249565 chr1 207134397 207134397 G A rs940097389 FCAMR Nonsynonymous SNV T275I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 249566 chr17 27898960 27898960 G A rs755786614 TP53I13 Nonsynonymous SNV R90Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 249567 chr17 27940379 27940379 C G ANKRD13B Nonsynonymous SNV P554A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 249568 chr17 29315083 29315083 A T rs748694451 RNF135 Nonsynonymous SNV E213V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.02 249569 chr1 208204954 208204954 G A PLXNA2 Nonsynonymous SNV H1736Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 249570 chr7 143077052 143077052 C T LOC100507507 0.002 0 0 0 2 0 0 0 0 0 0 0 7.469 249571 chrX 152710726 152710726 G T TREX2 Synonymous SNV R55R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.469 249572 chr7 149477912 149477912 C T rs200495292 SSPO 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.11 249573 chrX 153761827 153761827 G A rs782820643 G6PD Synonymous SNV P306P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.89 249574 chrX 154157106 154157106 C T F8 Synonymous SNV R1653R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.661 249575 chr17 34945658 34945658 A G rs200569278 GGNBP2 Synonymous SNV S637S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.665 249576 chr9 79251427 79251427 A C rs541284855 PRUNE2 Nonsynonymous SNV F268V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 249577 chr9 79323077 79323077 A T rs549118916 PRUNE2 Synonymous SNV S1371S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 249578 chr1 1254769 1254769 T C INTS11 Synonymous SNV V112V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.736 249579 chr10 105794401 105794401 G A rs768977221 COL17A1 Synonymous SNV S1248S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.34 249580 chr1 2103820 2103820 G A PRKCZ Synonymous SNV E243E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.606 249581 chr17 56329674 56329674 G A rs762196293 LPO Synonymous SNV L221L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.827 249582 chr1 227171485 227171485 G A rs765825787 COQ8A Nonsynonymous SNV D396N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 249583 chr1 228400175 228400175 C A OBSCN Nonsynonymous SNV R231S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 249584 chr17 60106981 60106981 A G MED13 Nonsynonymous SNV C402R 0.003 0 0 0 3 0 0 0 0 0 0 0 10.88 249585 chr17 39883387 39883387 G A rs376195729 HAP1 Nonsynonymous SNV P412S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 249586 chr17 62290642 62290642 T G rs144153288 TEX2 Nonsynonymous SNV E312D 0.003 0 0 0 4 0 0 0 0 0 0 0 19.24 249587 chr1 229438622 229438622 A G rs774124881 RAB4A Synonymous SNV P80P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 249588 chr1 230810843 230810843 T C rs773545999 COG2 Synonymous SNV N333N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.433 249589 chr20 48130784 48130784 A T PTGIS Nonsynonymous SNV L335Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 249590 chr17 71201750 71201750 G A rs370730769 COG1 Nonsynonymous SNV R814H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.2 249591 chr7 30931593 30931593 C G MINDY4 Nonsynonymous SNV N749K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 249592 chr5 94619571 94619571 C G rs761207624 MCTP1 Nonsynonymous SNV G237R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.12 249593 chr10 128150015 128150015 G C rs146121361 C10orf90 Nonsynonymous SNV D558E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 249594 chr17 4802071 4802071 C A rs528584911 CHRNE Nonsynonymous SNV R481L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 249595 chr17 48047109 48047109 G C rs145736583 DLX4 Nonsynonymous SNV E93Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.393 249596 chr1 20442070 20442070 C T PLA2G2D Synonymous SNV L74L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 249597 chr1 20668965 20668965 A G VWA5B1 Nonsynonymous SNV K725R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.573 249598 chr17 5462129 5462129 G T rs149035689 NLRP1 Nonsynonymous SNV F629L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 29 249599 chr3 45972663 45972663 G C rs149783680 FYCO1 Nonsynonymous SNV A1384G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.3 249600 chr17 58123537 58123537 G C rs145565709 HEATR6 Synonymous SNV P941P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.868 249601 chr3 47452068 47452068 G A rs148096792 PTPN23 Nonsynonymous SNV G801E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.294 249602 chr17 61428705 61428705 G A rs376981394 TANC2 Synonymous SNV S560S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 249603 chr17 61623252 61623252 T A KCNH6 Nonsynonymous SNV W956R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 249604 chr3 48626306 48626306 C T rs141649838 COL7A1 Nonsynonymous SNV E813K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 249605 chr7 64453056 64453056 C T rs200872730 ERV3-1 Nonsynonymous SNV V117I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.103 249606 chr1 27621022 27621022 C A rs183153171 WDTC1 Nonsynonymous SNV L259I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 249607 chr17 71395388 71395388 G A rs370582581 SDK2 Synonymous SNV I1004I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.661 249608 chr17 72306176 72306176 C A DNAI2 Nonsynonymous SNV F456L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 249609 chr3 57489826 57489826 C T rs139148204 DNAH12 Nonsynonymous SNV D335N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.3 249610 chr7 894619 894619 G T rs375435638 SUN1 Synonymous SNV L339L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 1.119 249611 chr17 7340684 7340684 G T rs371928871 TMEM102 Synonymous SNV T462T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.195 249612 chr1 39878924 39878924 C T rs920730201 KIAA0754 Nonsynonymous SNV T996I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 249613 chr17 73497684 73497684 A G rs779926820 CASKIN2 Nonsynonymous SNV V1046A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.431 249614 chr3 9714411 9714411 C T rs747380620 MTMR14 Synonymous SNV A240A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 20.9 249615 chr17 74289155 74289155 C T rs150148211 QRICH2 Synonymous SNV V385V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 9.846 249616 chr2 30863437 30863437 C T rs761289211 LCLAT1 Synonymous SNV Y361Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.844 249617 chr1 44447064 44447064 G A rs148339623 B4GALT2 Nonsynonymous SNV G78R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.6 249618 chr17 7476135 7476135 C T rs778199590 SENP3-EIF4A1 0 0 0.003 0 0 0 0 1 0 0 0 0 19.17 249619 chr3 9948741 9948741 G A IL17RE Stop gain W92X 0 0.003 0 2 0 1 0.005 0 0 0 0 0 36 249620 chr2 33749595 33749595 C A rs201170179 RASGRP3 Nonsynonymous SNV L263I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 249621 chr1 46751711 46751711 C T rs939187238 LRRC41 Nonsynonymous SNV R273Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 249622 chr18 33557552 33557552 A G rs772091862 C18orf21 Synonymous SNV A72A 0.003 0 0 0 4 0 0 0 0 0 0 0 7.443 249623 chr2 39893351 39893351 G A TMEM178A Synonymous SNV P79P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 249624 chr1 51767302 51767302 T C rs767322899 TTC39A Nonsynonymous SNV Q333R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 249625 chr10 6521032 6521032 C T rs771135605 PRKCQ Synonymous SNV T300T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.63 249626 chr17 79206253 79206253 G A rs539927555 TEPSIN Nonsynonymous SNV R198C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 249627 chr1 58993001 58993001 A C rs771437585 OMA1 Nonsynonymous SNV F383V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 27.3 249628 chr5 179192799 179192799 C A MAML1 Nonsynonymous SNV P263H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 249629 chr17 80398951 80398951 G A rs370916176 HEXD Nonsynonymous SNV R262K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 249630 chr2 69092823 69092823 G A rs139675487 BMP10 Synonymous SNV G405G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.881 249631 chr17 8137858 8137858 G A rs757067280 CTC1 Nonsynonymous SNV A578V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.181 249632 chr2 71351522 71351522 A C rs765599114 MCEE Nonsynonymous SNV F64L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.155 249633 chr8 135614084 135614084 C T rs777603767 ZFAT Synonymous SNV T564T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.182 249634 chr4 13545948 13545948 C G rs772057670 NKX3-2 Nonsynonymous SNV E31Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 249635 chr4 139964337 139964337 G A rs61731324 NOCT Synonymous SNV E100E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 11.32 249636 chr4 139964455 139964455 C T rs2271777 NOCT Nonsynonymous SNV H140Y 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 20.4 249637 chr8 143746324 143746324 A G JRK Nonsynonymous SNV L385P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.46 249638 chr18 28604422 28604422 G A rs150281676 DSC3 Nonsynonymous SNV A223V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 249639 chr18 28923360 28923360 T A DSG1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.555 249640 chr4 153332568 153332568 C T FBXW7 Nonsynonymous SNV D130N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 249641 chr1 86964339 86964339 C T rs570837989 CLCA1 Nonsynonymous SNV S733L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 249642 chr1 87181533 87181533 T C SH3GLB1 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.868 249643 chr4 15444024 15444024 C T rs145116504 C1QTNF7 Synonymous SNV S164S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.47 249644 chr2 95815131 95815131 T G ZNF514 Nonsynonymous SNV T440P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 249645 chr2 99443591 99443591 G A rs748063103 KIAA1211L Synonymous SNV V194V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.211 249646 chr1 92801913 92801913 G T rs147117321 RPAP2 Synonymous SNV G516G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.541 249647 chr6 26392488 26392488 C T rs114402470 BTN2A2 Nonsynonymous SNV R246W 0 0 0 1 0 0 0.003 0 0 0 0 0 0.892 249648 chr6 27100494 27100494 T C rs61745028 H2BC11 Synonymous SNV K12K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 249649 chr6 27277650 27277650 G A rs61736083 POM121L2 Nonsynonymous SNV S767F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.862 249650 chr8 145578278 145578278 G A rs569096018 TMEM249 Synonymous SNV N50N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.568 249651 chr6 27806043 27806043 C T rs143955895 H2AC15 Synonymous SNV Q25Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.404 249652 chr6 27834795 27834795 C G rs35906036 H1-5 Synonymous SNV A171A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.667 249653 chr6 28093526 28093526 G A rs34879925 ZSCAN16 Nonsynonymous SNV R102H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 249654 chr8 145665776 145665776 T C rs144566958 TONSL Synonymous SNV K416K 0.004 0 0 0 5 0 0 0 0 0 0 0 0.201 249655 chr8 145739905 145739905 G A rs369852601 RECQL4 Nonsynonymous SNV S542F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.4 249656 chr8 17161958 17161958 A G MTMR7 Nonsynonymous SNV F475L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 25.2 249657 chr1 110026631 110026631 C G rs776804349 ATXN7L2 Nonsynonymous SNV P19R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 249658 chr2 109546656 109546656 C T rs201793571 EDAR Nonsynonymous SNV G32S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 249659 chr18 56936567 56936567 C T rs757339865 RAX Nonsynonymous SNV G237D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 249660 chr18 61234027 61234027 C T rs147331436 SERPINB12 Nonsynonymous SNV S354F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 249661 chr2 127808402 127808402 G A rs750869889 BIN1 Synonymous SNV D308D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.407 249662 chr2 131520968 131520968 C T rs151032832 AMER3 Synonymous SNV D441D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.683 249663 chr18 72020568 72020568 G A C18orf63 Nonsynonymous SNV A356T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.73 249664 chr19 5208355 5208355 C T rs145313091 PTPRS Synonymous SNV P1398P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.43 249665 chr4 30724454 30724454 C G rs141113369 PCDH7 Synonymous SNV L470L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.786 249666 chr8 30938660 30938660 G A WRN Nonsynonymous SNV G373R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.684 249667 chr4 39077738 39077738 C T rs151171232 KLHL5 Synonymous SNV V38V 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 16.69 249668 chr19 10416611 10416611 C T rs369657667 ZGLP1 Nonsynonymous SNV R172H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 249669 chr19 8509897 8509897 C T rs762082643 HNRNPM Synonymous SNV V5V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 249670 chr11 117304174 117304174 C T rs35399839 DSCAML1 Synonymous SNV L1630L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.94 249671 chr11 117321266 117321266 G A rs369803995 DSCAML1 Nonsynonymous SNV P1236L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 249672 chr11 118765121 118765121 G A rs769274153 CXCR5 Nonsynonymous SNV V245M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 249673 chr19 12256364 12256364 G A rs138615504 ZNF625 Synonymous SNV S289S 0 0 0.01 0 0 0 0 3 0 0 0 0 16.95 249674 chr19 12430643 12430643 G A rs769421017 ZNF563 Nonsynonymous SNV H66Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 249675 chr2 174224182 174224182 T G CDCA7 Nonsynonymous SNV F116C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 249676 chr19 12924257 12924257 C T RNASEH2A Synonymous SNV L293L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 249677 chr19 14201149 14201149 G A rs764640843 SAMD1 Synonymous SNV S28S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.758 249678 chr19 14952596 14952596 G A rs144180384 OR7A10 Synonymous SNV L32L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.384 249679 chr2 183106620 183106623 GTTT - rs570430138 PDE1A K7Yfs*7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 249680 chr6 76657182 76657182 C G rs759162476 IMPG1 Synonymous SNV G553G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.48 249681 chr4 7032111 7032111 C T rs544220021 TBC1D14 Stop gain R412X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 249682 chr19 1619821 1619821 G A rs767996769 TCF3 Synonymous SNV P375P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 249683 chr2 196544975 196544975 G A rs778580688 SLC39A10 Nonsynonymous SNV R70H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 249684 chr2 204260500 204260500 C G rs775798093 ABI2 Nonsynonymous SNV P277A 0.001 0 0 0 1 0 0 0 0 0 0 0 22 249685 chr4 80993624 80993624 G A ANTXR2 Synonymous SNV L31L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.94 249686 chr19 21712573 21712573 C G rs183631992 ZNF429 Nonsynonymous SNV N39K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 249687 chr19 22785278 22785278 G C rs141007327 GOLGA2P9 0 0 0.01 0 0 0 0 3 0 0 0 0 1.15 249688 chr19 13565990 13565990 C A CACNA1A Synonymous SNV A110A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.92 249689 chr19 14000506 14000506 G A rs577821812 C19orf57 Nonsynonymous SNV T270I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 249690 chr19 14677581 14677581 G A NDUFB7 Nonsynonymous SNV R93C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 249691 chr4 89318021 89318021 T A rs192005184 HERC6 Stop gain Y302X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 249692 chr19 14938277 14938277 G C rs201956812 OR7A5 Stop gain Y259X 0.001 0 0.007 0 1 0 0 2 0 0 0 0 35 249693 chr19 14952066 14952066 A T rs201248248 OR7A10 Synonymous SNV G208G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.704 249694 chr19 14952069 14952069 G A rs202116205 OR7A10 Synonymous SNV G207G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.861 249695 chr19 14952583 14952583 A G rs28540032 OR7A10 Nonsynonymous SNV L36P 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.4 249696 chr19 36246424 36246424 T A HSPB6 X161L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 249697 chr19 3626610 3626610 G T CACTIN Synonymous SNV R51R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 249698 chr9 126220094 126220094 G A rs147957932 DENND1A Nonsynonymous SNV T327I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.12 249699 chr5 137259119 137259119 T C PKD2L2 Nonsynonymous SNV L386S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 249700 chr9 133805171 133805171 T C rs778578356 FIBCD1 Nonsynonymous SNV Q112R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.97 249701 chr9 134073788 134073788 G A rs770402088 NUP214 Nonsynonymous SNV G462D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 249702 chr19 32844629 32844629 C T rs781067719 ZNF507 Nonsynonymous SNV A298V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.73 249703 chr19 43999474 43999474 G A rs376589950 PHLDB3 Synonymous SNV L323L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.581 249704 chr19 44116423 44116423 G A rs767525461 SRRM5 Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.818 249705 chr5 140731049 140731049 C A rs148748054 PCDHGB1 Synonymous SNV R408R 0 0 0 2 0 0 0.005 0 0 0 0 0 18.26 249706 chr5 140731059 140731059 C A rs62623563 PCDHGB1 Nonsynonymous SNV T411K 0 0 0 2 0 0 0.005 0 0 0 0 0 11.13 249707 chr19 44423767 44423767 G A rs145856119 ZNF45 Stop gain R34X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 249708 chr11 134073971 134073971 G A NCAPD3 Synonymous SNV A257A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 249709 chr5 140810842 140810842 C - rs767658803 PCDHGA12 S173Afs*24 0 0 0 2 0 0 0.005 0 0 0 0 0 249710 chr9 138590900 138590900 C T rs201287340 SOHLH1 Synonymous SNV T46T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.63 249711 chr3 9918818 9918818 C T rs150971509 CIDEC Nonsynonymous SNV V47I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26 249712 chr19 36501502 36501502 C T rs752864120 ALKBH6 Nonsynonymous SNV A156T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.748 249713 chr19 45910368 45910369 TT - CD3EAP C16Sfs*105 0 0 0.003 0 0 0 0 1 0 0 0 0 249714 chr19 48886556 48886556 C T rs145870798 KDELR1 Synonymous SNV P211P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.99 249715 chr9 20865966 20865966 T A FOCAD Synonymous SNV T699T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 249716 chr9 2718523 2718523 A G rs143012910 KCNV2 Nonsynonymous SNV I262V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.523 249717 chr9 2719038 2719038 G A rs759838750 KCNV2 Synonymous SNV E433E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 249718 chr9 27192522 27192522 C A TEK Nonsynonymous SNV P362T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 249719 chr19 50868815 50868815 A C rs73932472 NAPSA Nonsynonymous SNV S22A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 249720 chr19 50905042 50905042 G T rs20582 POLD1 Synonymous SNV A108A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.415 249721 chr19 50905604 50905604 C T rs778836055 POLD1 Synonymous SNV Y244Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.95 249722 chr5 176931659 176931659 G A rs767587761 DOK3 Synonymous SNV G216G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.803 249723 chr19 50985180 50985180 C T rs57237609 EMC10 Synonymous SNV P247P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 249724 chr19 51162213 51162213 C G rs576875269 C19orf81 Nonsynonymous SNV I137M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 249725 chr5 180482437 180482437 G T rs143224692 BTNL9 Nonsynonymous SNV K304N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.84 249726 chr19 52942175 52942175 C G rs758829376 ZNF534 Nonsynonymous SNV H460D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 249727 chr19 53571445 53571445 G A rs749609507 ZNF160 Nonsynonymous SNV A781V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 249728 chr2 241558376 241558376 G A rs760910190 GPR35 Nonsynonymous SNV R6Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.507 249729 chr5 34929930 34929930 G A rs762491366 DNAJC21 Synonymous SNV K2K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.29 249730 chr19 54103533 54103533 C T rs7256888 LOC284379 0 0 0.003 0 0 0 0 1 0 0 0 0 4.838 249731 chr19 54242645 54242645 G A rs199969520 MIR518A2 0 0 0.003 0 0 0 0 1 0 0 0 0 2.946 249732 chr19 47980181 47980181 C T KPTN Nonsynonymous SNV R237Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 249733 chr5 41159331 41159331 C T C6 Nonsynonymous SNV C570Y 0 0 0 1 0 0 0.003 0 0 0 0 0 32 249734 chr3 53694276 53694276 C T CACNA1D Nonsynonymous SNV P247L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 249735 chr19 56024402 56024402 C T SSC5D Nonsynonymous SNV P937L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 249736 chr19 56204365 56204365 G A rs200769683 EPN1 Nonsynonymous SNV R383Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 249737 chr2 27278916 27278916 T C AGBL5 Synonymous SNV S425S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.814 249738 chr19 56228145 56228145 G A rs541213750 NLRP9 Nonsynonymous SNV T760M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 249739 chr2 27293026 27293026 A G rs200219581 AGBL5 Synonymous SNV L852L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.049 249740 chr2 27308814 27308814 C G EMILIN1 Nonsynonymous SNV H994Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 249741 chr5 61887422 61887422 C A IPO11 Nonsynonymous SNV F907L 0 0 0 4 0 0 0.01 0 0 0 0 0 23.8 249742 chr3 58419524 58419524 A G rs200470565 PDHB Nonsynonymous SNV S5P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 249743 chr2 27684212 27684212 C T rs148237432 IFT172 Nonsynonymous SNV R789Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 249744 chr19 5696341 5696341 C T rs148812474 LONP1 Synonymous SNV S409S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 249745 chr19 57333026 57333026 C G rs138565582 PEG3, ZIM2 Nonsynonymous SNV R221P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 249746 chr2 33741704 33741704 C G rs74600205 RASGRP3 Nonsynonymous SNV L56V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 249747 chr2 38178879 38178879 A G rs575374530 RMDN2 Nonsynonymous SNV H174R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 249748 chr19 5867472 5867472 C T rs141356302 FUT5 Nonsynonymous SNV V89M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.649 249749 chr19 59083960 59083960 G C MZF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.687 249750 chr3 113184600 113184600 G T rs998500092 SPICE1 Nonsynonymous SNV T396K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 249751 chr5 80074556 80074556 G A rs199791286 MSH3 Nonsynonymous SNV R779H 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Uncertain significance 35 249752 chr19 8131090 8131090 A C FBN3 Nonsynonymous SNV S2715A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.424 249753 chr3 118621387 118621387 G A rs144520595 IGSF11 Nonsynonymous SNV R426W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 249754 chr11 608519 608519 G A rs375302987 PHRF1 Synonymous SNV T1021T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 5.888 249755 chr19 53625969 53625969 A G rs12462749 ZNF415 Synonymous SNV H33H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.929 249756 chr19 54486046 54486046 C T CACNG8 Synonymous SNV A407A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.828 249757 chr5 96314935 96314935 C G rs138619934 LNPEP Nonsynonymous SNV P38R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 25.6 249758 chr3 127358204 127358204 G A rs761347217 PODXL2 Nonsynonymous SNV E63K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 249759 chr3 129023535 129023535 T C HMCES Nonsynonymous SNV V269A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.107 249760 chr11 59225347 59225347 T G rs200237286 OR4D6 Nonsynonymous SNV L305R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.25 249761 chr2 86335490 86335490 C T PTCD3 Nonsynonymous SNV A41V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.195 249762 chr1 110294632 110294632 C T rs773021128 EPS8L3 Synonymous SNV Q410Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 249763 chr11 60695323 60695323 C T rs770668657 TMEM132A Nonsynonymous SNV R176C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 249764 chr19 56312981 56312981 G A rs199710418 NLRP11 Nonsynonymous SNV H611Y 0.002 0 0 0 2 0 0 0 0 0 0 0 4.725 249765 chr11 6643175 6643175 G T DCHS1 Synonymous SNV S3244S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.393 249766 chr3 142269003 142269003 C T rs537845660 ATR Nonsynonymous SNV D919N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 249767 chr7 156974840 156974840 C A rs760754064 UBE3C Nonsynonymous SNV A270E 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 249768 chr11 62287616 62287616 T C rs201059372 AHNAK Nonsynonymous SNV K4758R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 249769 chr3 114070130 114070130 T C rs755946458 ZBTB20 Synonymous SNV A265A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.071 249770 chr1 11848319 11848319 C T rs773668262 C1orf167 Nonsynonymous SNV P1321L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.842 249771 chr3 121414559 121414559 G T rs1013529172 GOLGB1 Nonsynonymous SNV A1524E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 249772 chr19 58118040 58118040 G C rs746550646 ZNF530 Nonsynonymous SNV E383Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 249773 chr6 147680295 147680295 T C rs755572870 STXBP5 Nonsynonymous SNV I758T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 249774 chr3 159943766 159943766 G A C3orf80 Nonsynonymous SNV R115H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 249775 chr1 150483954 150483954 T C ECM1 Nonsynonymous SNV F271L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 249776 chr1 152084394 152084394 C T rs769712251 TCHH Synonymous SNV R433R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 249777 chr1 152692031 152692031 C T rs887053764 C1orf68 Nonsynonymous SNV P12S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 249778 chr11 75153591 75153591 G A rs533870538 GDPD5 Synonymous SNV P190P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.912 249779 chr1 154960817 154960817 C T rs776874328 FLAD1 Synonymous SNV P203P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 249780 chr20 3175489 3175489 A T rs749068713 DDRGK1 Nonsynonymous SNV I220N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 249781 chr1 155448176 155448178 AGA - rs780886514 ASH1L S1495del 0 0 0.003 0 0 0 0 1 0 0 0 0 249782 chr11 802802 802802 G A rs200869254 PIDD1 Nonsynonymous SNV R267W 0.002 0.005 0 0 2 2 0 0 0 0 0 0 27.3 249783 chr3 135720831 135720831 A G rs757702925 PPP2R3A Nonsynonymous SNV H164R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.41 249784 chr20 10030791 10030791 A G ANKEF1 Nonsynonymous SNV Y525C 0.003 0 0 0 3 0 0 0 0 0 0 0 27 249785 chr6 168376847 168376847 - AGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGG HGC6.3 Stop gain T167Cfs*34 0 0 0 1 0 0 0.003 0 0 0 0 0 249786 chr11 71146795 71146795 G A rs80338860 DHCR7 Nonsynonymous SNV R352W 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 33 249787 chr11 8948619 8948619 T C rs567250730 C11orf16 Nonsynonymous SNV I143V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.601 249788 chr13 114058396 114058467 TCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC - LOC101928841 R1361_A1384del 0.002 0 0 0 2 0 0 0 0 0 0 0 249789 chr1 16060381 16060381 G C rs754312823 PLEKHM2 Synonymous SNV R1004R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.545 249790 chr1 161011945 161011945 G A rs145229157 USF1 Synonymous SNV G79G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.013 249791 chr4 1807564 1807564 C T rs989826317 FGFR3 Nonsynonymous SNV S466F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 249792 chr6 27100413 27100413 G A rs751383107 H2BC11 Synonymous SNV S39S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.963 249793 chr1 169578790 169578790 G A SELP Nonsynonymous SNV R429W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 249794 chr12 109182641 109182641 T A rs200922595 SSH1 Nonsynonymous SNV K758M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 249795 chr2 198570600 198570600 C T rs35544931 MARS2 Synonymous SNV R157R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.09 249796 chr2 201758033 201758033 C T rs371885073 NIF3L1 Synonymous SNV H167H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 249797 chr8 92083378 92083378 G A rs769112572 OTUD6B Nonsynonymous SNV G32D 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.5 249798 chr1 174516997 174516997 C A rs199836205 RABGAP1L Nonsynonymous SNV T541K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.681 249799 chr12 112616770 112616770 C T rs201363187 HECTD4 Synonymous SNV P3786P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.372 249800 chr20 53260024 53260024 G A rs143491762 DOK5 Nonsynonymous SNV A255T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 20.7 249801 chr12 120272000 120272000 C T rs756773129 CIT Synonymous SNV L183L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.16 249802 chr4 38134844 38134844 G A rs376683121 TBC1D1 Nonsynonymous SNV R103H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 249803 chr2 219526013 219526013 T G rs138756092 BCS1L Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.116 249804 chr1 196296011 196296011 T C rs374821104 KCNT2 Synonymous SNV Q654Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 249805 chr6 46638913 46638913 G A rs200844401 SLC25A27 Nonsynonymous SNV G283D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.99 249806 chr6 46660495 46660495 C T rs151245164 TDRD6 Nonsynonymous SNV L1544F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 249807 chr1 198222173 198222173 G T rs116247582 NEK7 Nonsynonymous SNV A21S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 249808 chr2 220336621 220336621 C T rs372261652 SPEG Synonymous SNV A1249A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.47 249809 chr4 52899745 52899745 A G SGCB Nonsynonymous SNV V32A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.642 249810 chr12 124419966 124419968 ACC - DNAH10 T4453del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 249811 chr2 220412348 220412348 C T rs201092352 TMEM198 Nonsynonymous SNV A96V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 249812 chr12 111336828 111336828 T C rs368550519 CCDC63 Nonsynonymous SNV V335A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 249813 chr2 225630539 225630539 C T rs111356042 DOCK10 Nonsynonymous SNV D2148N 0.001 0 0 0 1 0 0 0 0 0 0 0 22 249814 chr1 202097319 202097319 G A rs114687119 GPR37L1 Nonsynonymous SNV V361M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 249815 chr2 227663323 227663323 G A rs61734194 IRS1 Synonymous SNV L44L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.213 249816 chr6 5545522 5545522 C T rs41302855 FARS2 Synonymous SNV R338R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 15.12 249817 chr1 203768521 203768521 A G ZBED6 Nonsynonymous SNV Q624R 0 0 0.003 0 0 0 0 1 0 0 0 0 22 249818 chr6 71235993 71235993 C A rs2747700 FAM135A Nonsynonymous SNV T840N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.9 249819 chr12 120750503 120750503 A G rs140823540 SIRT4 Nonsynonymous SNV K248E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.282 249820 chr6 82461757 82461757 - CCGCCGAAGTCGCCG TENT5A G45_G46insDFGGG 0.001 0 0 1 1 0 0.003 0 0 0 0 0 249821 chr21 35895879 35895879 T C rs140515920 RCAN1 Nonsynonymous SNV K47E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 249822 chr21 38852972 38852972 A G rs370463929 DYRK1A Synonymous SNV Q82Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.39 249823 chr21 42694972 42694972 G C rs754894265 FAM3B Nonsynonymous SNV G48R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.5 249824 chr1 219347292 219347292 T C rs140183886 LYPLAL1 Synonymous SNV H20H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 249825 chr4 110737453 110737453 G A rs748054066 GAR1 Nonsynonymous SNV G45S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 249826 chr1 226568779 226568779 G - PARP1 S431Afs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 249827 chr21 45553639 45553639 C T rs148428690 GATD3A, GATD3B Synonymous SNV S20S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.86 249828 chr3 8809782 8809782 G A rs1015123659 OXTR Nonsynonymous SNV P31L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 249829 chr4 122749876 122749876 C T BBS7 Nonsynonymous SNV E562K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 249830 chr1 228492061 228492061 C T rs560328132 OBSCN Nonsynonymous SNV T4687M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.153 249831 chr21 47407078 47407078 G A rs557153744 COL6A1 Nonsynonymous SNV V243M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 249832 chr21 47707039 47707039 - A YBEY 0.001 0 0 0 1 0 0 0 0 0 0 0 249833 chr4 141543649 141543649 C T TBC1D9 Synonymous SNV V1167V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 249834 chr7 103969249 103969260 GCCGCCGCCGCC - rs745895032 LHFPL3 A11_A14del 0.001 0 0 2 1 0 0.005 0 0 0 0 0 249835 chr3 37090445 37090445 C T rs63749867 MLH1 Synonymous SNV C322C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.05 249836 chr4 169343783 169343783 G C rs772540117 DDX60L Nonsynonymous SNV D712E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.932 249837 chr22 24451580 24451580 C G rs201376301 CABIN1 Nonsynonymous SNV P301A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.38 249838 chr22 24891386 24891386 G A UPB1 Synonymous SNV E5E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.717 249839 chr4 177114113 177114113 G A rs144504100 SPATA4 Stop gain R155X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 249840 chr4 119649762 119649762 C A SEC24D Nonsynonymous SNV R972I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.2 249841 chr7 134632364 134632364 C G CALD1 Synonymous SNV T285T 0 0 0 2 0 0 0.005 0 0 0 0 0 7.026 249842 chr22 30866543 30866543 A - rs773067535 SEC14L3 P28Lfs*52 0.003 0 0 0 3 0 0 0 0 0 0 0 249843 chr7 134890779 134890779 A C rs780210501 WDR91 Nonsynonymous SNV L209R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 249844 chr4 125592798 125592798 C T rs200427768 ANKRD50 Nonsynonymous SNV G366E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 249845 chr5 1208935 1208935 G A rs757679627 SLC6A19 Nonsynonymous SNV G93R 0.001 0 0 0 1 0 0 0 0 0 0 0 28 249846 chr5 1225719 1225719 C G rs149753564 SLC6A18 Nonsynonymous SNV R43G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 249847 chr7 139102245 139102245 A G LOC100129148 0 0 0 1 0 0 0.003 0 0 0 0 0 4.872 249848 chr22 37491595 37491595 C T rs755738032 TMPRSS6 Synonymous SNV T209T 0.003 0 0 0 4 0 0 0 0 0 0 0 18.38 249849 chr22 37581466 37581466 G A rs12158739 C1QTNF6 Synonymous SNV P27P 0.003 0 0 0 4 0 0 0 0 0 0 0 8.991 249850 chr7 14188791 14188791 G C DGKB Nonsynonymous SNV L775V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.1 249851 chr3 51993975 51993975 G A rs142190169 PCBP4 Nonsynonymous SNV T151M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 249852 chr1 33772975 33772975 C T rs767554510 A3GALT2 Nonsynonymous SNV V139M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 249853 chr5 33455126 33455126 C T rs768297886 TARS1 Nonsynonymous SNV P177L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 249854 chr22 50468902 50468902 C T TTLL8 Synonymous SNV L736L 0.003 0 0 0 4 0 0 0 0 0 0 0 4.273 249855 chr1 43675636 43675636 C T rs144649635 CFAP57 Nonsynonymous SNV R660C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 249856 chr5 64013795 64013795 T A rs61742841 SHISAL2B Nonsynonymous SNV D143E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 249857 chr7 21655834 21655834 T A DNAH11 Nonsynonymous SNV I1340N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 249858 chrX 50350728 50350728 T C rs6614552 SHROOM4 Synonymous SNV E1138E 0.003 0 0.007 1 3 0 0.003 2 1 0 1 0 Benign 0.001 249859 chr4 24801209 24801209 - GACTCGGCGGAGCCCAACTCT rs769922248 SOD3 E33_W34insPNSDSAE 0 0 0 1 0 0 0.003 0 0 0 0 0 249860 chrX 54071315 54071315 C T PHF8 Synonymous SNV R3R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.948 249861 chr4 25678179 25678179 C G SLC34A2 Synonymous SNV R626R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.87 249862 chr13 103383330 103383330 A - rs764966760 CCDC168 Y6573Mfs*3 0.004 0.003 0 2 5 1 0.005 0 0 0 0 0 249863 chr1 54640399 54640399 G A rs773462054 CYB5RL Nonsynonymous SNV R202W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 249864 chr1 55175762 55175762 C T rs577302951 MROH7 Nonsynonymous SNV R810C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 249865 chr1 59125691 59125691 C A rs781391262 MYSM1 Nonsynonymous SNV C822F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 249866 chr13 103701789 103701789 T C SLC10A2 Nonsynonymous SNV T257A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 249867 chr1 62380259 62380259 G T rs144020059 PATJ Nonsynonymous SNV V1165F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 249868 chr9 139272551 139272551 C G SNAPC4 Nonsynonymous SNV R1243P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.49 249869 chr3 123458823 123458823 C A rs140148380 MYLK Nonsynonymous SNV Q133H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.88 249870 chr7 44152694 44152696 AAC - rs763140394 AEBP1 N893del 0 0 0 3 0 0 0.008 0 0 0 0 0 249871 chr13 20641473 20641473 A G rs754311550 ZMYM2 Synonymous SNV P1132P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.151 249872 chr13 20716908 20716908 C G rs928164571 GJA3 Nonsynonymous SNV E174Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.451 249873 chr4 49040187 49040188 GC - rs772121879 CWH43 G571Efs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 249874 chr1 8073351 8073351 T C rs772806732 ERRFI1 Synonymous SNV T436T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.933 249875 chr1 82450389 82450389 C A rs140169055 ADGRL2 Synonymous SNV G1118G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 249876 chr1 82456382 82456382 C T rs371321379 ADGRL2 Synonymous SNV S1255S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.524 249877 chr4 57267503 57267503 C T rs201692437 PPAT Nonsynonymous SNV M293I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.076 249878 chr5 109961058 109961058 C T rs763870664 TMEM232 Synonymous SNV S226S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.89 249879 chr13 31216867 31216867 C T rs528822246 USPL1 Nonsynonymous SNV S33L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 17.61 249880 chr1 87797734 87797734 G T rs368866009 LMO4 Synonymous SNV P12P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 249881 chr4 68527938 68527938 G C rs756011530 UBA6 Nonsynonymous SNV A358G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 249882 chr5 126887585 126887585 C T rs764193190 PRRC1 Nonsynonymous SNV R439C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 249883 chr4 7043854 7043854 C G rs750714848 CCDC96 Nonsynonymous SNV R271P 0 0 0 2 0 0 0.005 0 0 0 0 0 17.77 249884 chr4 73185180 73185180 C T rs145223158 ADAMTS3 Synonymous SNV E407E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.817 249885 chr3 169656188 169656188 C T rs138055938 SAMD7 Nonsynonymous SNV T412I 0.002 0 0 0 2 0 0 0 0 0 0 0 3.703 249886 chr13 42875413 42875413 C T AKAP11 Nonsynonymous SNV P844L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.806 249887 chr7 80290500 80290500 T C rs140968958 CD36 Nonsynonymous SNV F135L 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 10.82 249888 chr20 30777807 30777807 G A rs528211543 TSPY26P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.939 249889 chr5 148407813 148407813 G A rs200665714 SH3TC2 Synonymous SNV L494L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.103 249890 chr20 35317152 35317152 G A rs943571419 NDRG3 Synonymous SNV H31H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 249891 chr10 129905931 129905931 G A MKI67 Synonymous SNV P1031P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.938 249892 chr3 194991683 194991683 G A XXYLT1 Synonymous SNV V35V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 249893 chr20 39977318 39977318 C - LPIN3 S118Rfs*63 0 0 0.003 0 0 0 0 1 0 0 0 0 249894 chr8 104778486 104778486 A C rs749489963 RIMS2 Nonsynonymous SNV Q140P 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 249895 chr14 21025182 21025182 A - RNASE9 L16Cfs*62 0 0.003 0 0 0 1 0 0 0 0 0 0 249896 chr10 15256113 15256113 C T rs139429894 FAM171A1 Nonsynonymous SNV V492M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 249897 chr5 162901153 162901153 A - rs776499506 HMMR E245Dfs*48 0.003 0 0 0 3 0 0 0 0 0 0 0 249898 chr10 75071625 75071625 A C CFAP70 Synonymous SNV G255G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 249899 chr5 173043289 173043298 GCTGCGGGTC - BOD1 D48Sfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 249900 chr4 3768685 3768685 T A ADRA2C Nonsynonymous SNV Y118N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 249901 chr5 138861229 138861229 C T rs140011636 STING1 Nonsynonymous SNV A21T 0 0 0 4 0 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.05 249902 chr20 60897182 60897182 C A rs528255444 LAMA5 Nonsynonymous SNV R2130L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.83 249903 chr5 140745808 140745808 G A PCDHGA5 Synonymous SNV A637A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.901 249904 chr14 53327175 53327175 C T rs376113224 FERMT2 Synonymous SNV A537A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.12 249905 chr14 53619128 53619128 T A rs770689717 DDHD1 Nonsynonymous SNV D230V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.392 249906 chr14 53619129 53619129 C T rs147832037 DDHD1 Nonsynonymous SNV D230N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.45 249907 chr20 62593626 62593626 G A rs766563949 ZNF512B Synonymous SNV D755D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 249908 chr14 57752939 57752939 A G rs758486812 AP5M1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 249909 chr14 36004020 36004020 C T INSM2 Nonsynonymous SNV L188F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.13 249910 chr6 24667074 24667074 C G rs61760186 TDP2 Nonsynonymous SNV C6S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 249911 chr21 35773023 35773023 A G rs903507577 FAM243A, FAM243B Synonymous SNV Y116Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.567 249912 chr14 70459158 70459158 C T rs751662427 SMOC1 Nonsynonymous SNV T184M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 249913 chr4 75046532 75046536 TCCTG - rs778332609 MTHFD2L Stop gain C8* 0.001 0 0.003 0 1 0 0 1 0 0 0 0 249914 chr14 76432001 76432001 T C TGFB3 Synonymous SNV P228P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.026 249915 chr5 167894864 167894864 A G rs373701830 WWC1 Nonsynonymous SNV H1063R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 249916 chr6 33656083 33656083 C T rs758331142 ITPR3 Nonsynonymous SNV T2148M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 249917 chr10 121190925 121190925 G A rs55719738 GRK5 Synonymous SNV T208T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.851 249918 chr10 75034439 75034439 T C rs536056188 DNAJC9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 249919 chr21 46355551 46355551 C T LINC01547 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 249920 chr21 46689909 46689909 C A POFUT2 Nonsynonymous SNV G286V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 249921 chr14 88970771 88970771 G A rs149192499 PTPN21 Synonymous SNV Y195Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.1 249922 chr5 176017273 176017273 C T CDHR2 Nonsynonymous SNV L1099F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 249923 chr14 89878485 89878485 G A rs79125183 FOXN3 Synonymous SNV N112N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.722 249924 chr5 176449783 176449783 G T ZNF346 Nonsynonymous SNV G15V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.12 249925 chr21 47754549 47754549 G A rs61735823 PCNT Nonsynonymous SNV R51H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.65 249926 chr14 92959910 92959910 A G rs142019261 SLC24A4 Nonsynonymous SNV I603V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.601 249927 chr22 18069938 18069938 C G SLC25A18 Nonsynonymous SNV T149S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.247 249928 chr5 178996396 178996396 C T rs150352195 RUFY1 Synonymous SNV L158L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.42 249929 chr22 20918819 20918819 G A MED15 Synonymous SNV Q107Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.381 249930 chr22 21356949 21356949 C A rs61743040 THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.186 249931 chr5 180045918 180045920 CTC - rs746341092 FLT4 E951del 0 0 0 1 0 0 0.003 0 0 0 0 0 249932 chr8 38827254 38827254 G A PLEKHA2 Synonymous SNV P410P 0 0 0 2 0 0 0.005 0 0 0 0 0 9.681 249933 chr5 180278142 180278142 C T rs140539381 ZFP62 Nonsynonymous SNV R118H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.7 249934 chr5 180416061 180416061 C G rs79915597 BTNL3 Nonsynonymous SNV F11L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.041 249935 chr6 43612901 43612901 G A rs781745993 RSPH9 Synonymous SNV P22P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 249936 chr5 180424241 180424241 C T rs77077795 BTNL3 Synonymous SNV I142I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.82 249937 chr8 52321755 52321755 A G rs1005646430 PXDNL Nonsynonymous SNV L810P 0 0 0 1 0 0 0.003 0 0 0 0 0 23 249938 chr22 24057263 24057263 C T GUSBP11 0 0 0.003 0 0 0 0 1 0 0 0 0 6.204 249939 chr6 44272836 44272836 C G rs146512155 AARS2 Nonsynonymous SNV D512H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 249940 chr5 180661258 180661258 G A TRIM41 Nonsynonymous SNV R459Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 249941 chr6 46135720 46135720 C A rs138463479 ENPP5 Nonsynonymous SNV D94Y 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 249942 chr8 6293680 6293680 C G rs139607465 MCPH1 Nonsynonymous SNV L145V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 17.28 249943 chr15 22969225 22969225 G A rs562750082 CYFIP1 Synonymous SNV T386T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.9 249944 chr4 114286289 114286289 T C rs544195596 ANK2 Synonymous SNV S752S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.833 249945 chr22 28397392 28397392 A G TTC28 Synonymous SNV P1456P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.572 249946 chr22 29660140 29660140 G A rs374198036 RHBDD3 Synonymous SNV L72L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.699 249947 chr6 49753713 49753713 G A rs199596449 PGK2 Synonymous SNV G396G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.798 249948 chr6 51892967 51892967 T C rs746874144 PKHD1 Nonsynonymous SNV I1183V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.733 249949 chr15 32976764 32976764 A G ARHGAP11A-SCG5, SCG5 Nonsynonymous SNV D128G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 249950 chr4 122725789 122725789 C T rs760945140 EXOSC9 Nonsynonymous SNV R133C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 249951 chr5 40841509 40841509 G C rs375043068 CARD6 Nonsynonymous SNV E9Q 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 20.2 249952 chr8 82736175 82736175 A G SNX16 Synonymous SNV L126L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 249953 chr22 32665702 32665702 C T SLC5A4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.68 249954 chr6 64416621 64416621 C T PHF3 Nonsynonymous SNV P1101L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 249955 chr22 33254032 33254032 G A rs746811195 TIMP3 Synonymous SNV T115T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 249956 chr22 38470313 38470313 G C PICK1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 249957 chr22 38470318 38470318 T A PICK1 Nonsynonymous SNV L280Q 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 249958 chr4 155254512 155254512 C A rs76121430 DCHS2 Nonsynonymous SNV V950L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.3 249959 chr22 40663019 40663019 A G rs377513024 TNRC6B Nonsynonymous SNV M929V 0 0 0.007 0 0 0 0 2 0 0 0 0 2.798 249960 chr22 42564718 42564718 G A rs115095004 TCF20 Nonsynonymous SNV P1942S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.114 249961 chr6 90573678 90573678 G A rs1026226469 CASP8AP2 Synonymous SNV V750V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.474 249962 chr5 78375222 78375222 C T rs60158007 BHMT2 Nonsynonymous SNV A66V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 28.9 249963 chr15 52505468 52505468 G A rs112120821 MYO5C Nonsynonymous SNV S1353L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.13 249964 chr22 50885630 50885630 C T rs767709306 SBF1 Nonsynonymous SNV D1850N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 249965 chr15 56208943 56208943 G T rs115484917 NEDD4 Nonsynonymous SNV S29R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 20.1 249966 chr15 56387061 56387061 - GTGGGT rs756499810 RFX7 T868_S869insPT 0.003 0.003 0 0 4 1 0 0 0 0 0 0 249967 chr15 43815086 43815086 G A rs372755049 MAP1A Nonsynonymous SNV R472H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.8 249968 chr15 45436303 45436303 G A rs150755159 DUOX1 Nonsynonymous SNV R669H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.13 249969 chr9 124535597 124535597 C T DAB2IP Synonymous SNV A806A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.69 249970 chr9 125315994 125315994 C T rs751354919 OR1N2 Synonymous SNV R168R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.06 249971 chr9 125316168 125316168 G T rs749350377 OR1N2 Nonsynonymous SNV W226C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 249972 chr15 48493525 48493525 T C CTXN2 Nonsynonymous SNV S10P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.36 249973 chr15 48559808 48559808 A T SLC12A1 Nonsynonymous SNV K735N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 249974 chr6 130363848 130363848 A T rs749295047 L3MBTL3 Nonsynonymous SNV T2S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 249975 chr15 65676523 65676523 C T rs751661640 IGDCC4 Nonsynonymous SNV G1193R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.22 249976 chr15 56208221 56208221 G A rs147060928 NEDD4 Nonsynonymous SNV P270L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 249977 chr15 58724285 58724285 C G LIPC Nonsynonymous SNV I18M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 249978 chr15 73660549 73660549 G C HCN4 Synonymous SNV A21A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.378 249979 chr15 63111786 63111786 G T rs146565364 TLN2 Synonymous SNV V2281V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.794 249980 chr6 147022088 147022088 G C ADGB Nonsynonymous SNV R530P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.467 249981 chr5 37153928 37153928 C T rs200612080 CPLANE1 Nonsynonymous SNV E2709K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.82 249982 chr5 37310731 37310731 C T rs749163402 NUP155 Nonsynonymous SNV A792T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 249983 chr5 38950117 38950117 G C rs201165768 RICTOR Nonsynonymous SNV S1278C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 249984 chr9 134465308 134465308 C T rs376156893 RAPGEF1 Synonymous SNV T775T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.16 249985 chr6 152686044 152686044 C G SYNE1 Nonsynonymous SNV Q3368H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 249986 chr9 136216905 136216905 C T RPL7A Nonsynonymous SNV A138V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 249987 chr2 162362836 162362836 C T rs139591616 AHCTF1P1 0 0 0.017 0 0 0 0 5 0 0 0 0 10.61 249988 chr9 139571473 139571473 C T rs145964203 AGPAT2 Synonymous SNV Q144Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.52 249989 chr9 139649967 139649967 G T rs138807960 LCN8 Synonymous SNV G99G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 249990 chr9 139700518 139700518 C T rs574486749 CCDC183-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.046 249991 chr9 139836708 139836708 C T rs561473224 FBXW5 Nonsynonymous SNV A296T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.506 249992 chr2 173825868 173825868 C A rs201933844 RAPGEF4 Nonsynonymous SNV L33I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 249993 chr9 140115025 140115025 G A rs149582355 RNF208 Synonymous SNV L214L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.815 249994 chr2 173955825 173955825 C T rs147113074 MAP3K20 Synonymous SNV C22C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 249995 chr2 175618453 175618453 C A CHRNA1 Nonsynonymous SNV D186Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 249996 chr2 179422055 179422055 C T rs751754225 TTN Nonsynonymous SNV V20247M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 249997 chr2 179597207 179597207 G A rs373179717 TTN Synonymous SNV V4283V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.433 249998 chr2 179665163 179665163 C T rs72647843 TTN Nonsynonymous SNV S181N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19.81 249999 chr16 10032076 10032076 G A rs774169125 GRIN2A Synonymous SNV T249T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.55 250000 chr7 5413807 5413807 G A rs761230711 TNRC18 Synonymous SNV P1036P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.203 250001 chr2 186656248 186656248 G A FSIP2 Nonsynonymous SNV S1462N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 250002 chr9 20990283 20990283 C T rs527327370 FOCAD Synonymous SNV H1722H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.81 250003 chr2 191353448 191353448 C T rs752174884 MFSD6 Synonymous SNV L566L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 250004 chr2 196729497 196729497 C A DNAH7 Nonsynonymous SNV M2294I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.381 250005 chr6 166721344 166721464 GCCGGCCGGGGCGGGGCGCACGTGGCTGGGGCCCGCGCGCGGCTGGGCAAGGCCTGGGGGGAGACGCCCGGAGGGGCCGGCGGCTGCGTCCTGTCCAGGCCGGGGCCGCGCCGGGCCGGCG - PRR18 P56Qfs*42 0 0 0 1 0 0 0.003 0 0 0 0 0 250006 chr16 1825859 1825859 C T rs779686215 EME2 Nonsynonymous SNV P281S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.521 250007 chr7 23339042 23339042 - GGG rs759224620 MALSU1 G25_S26insG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 250008 chr9 6252907 6252907 T C rs780824666 IL33 Nonsynonymous SNV Y87H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 250009 chr11 46726810 46726810 G A ZNF408 Synonymous SNV G512G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.296 250010 chr16 2260200 2260200 C T rs145075016 BRICD5 Nonsynonymous SNV R88Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.02 250011 chr7 44684952 44684952 G A rs762456042 OGDH Synonymous SNV T83T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 250012 chr2 220246775 220246775 T A rs766640913 DNPEP Synonymous SNV T313T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.804 250013 chr7 48141431 48141431 T C rs772295940 UPP1 Nonsynonymous SNV V58A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 250014 chr5 141051787 141051787 G A rs149846650 ARAP3 Synonymous SNV Y489Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.865 250015 chr16 31471097 31471097 G T rs765712803 ARMC5 Synonymous SNV P84P 0 0.005 0 0 0 2 0 0 0 0 0 0 10.31 250016 chr2 227661469 227661469 G A rs138035227 IRS1 Synonymous SNV Y662Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.065 250017 chr16 30365925 30365925 C T CD2BP2 Synonymous SNV K26K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 250018 chr7 82435032 82435032 C G PCLO Nonsynonymous SNV E4969Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 250019 chrX 140994242 140994245 TGAG - rs765782162 MAGEC1 S352Ffs*34 0 0 0 2 0 0 0.005 0 0 0 0 1 250020 chr16 48265826 48265826 T C rs200128517 ABCC11 Nonsynonymous SNV R3G 0 0.008 0.003 0 0 3 0 1 0 0 0 0 27.2 250021 chr6 44244114 44244114 G A TMEM151B Synonymous SNV E517E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.81 250022 chr2 237032679 237032679 G A rs143254472 AGAP1 Synonymous SNV E776E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 2.139 250023 chrX 152482238 152482238 T G rs142315436 MAGEA1 Nonsynonymous SNV D258A 0 0 0 2 0 0 0.005 0 0 0 0 1 23 250024 chrX 153697410 153697410 C T rs782241687 PLXNA3 Synonymous SNV C1482C 0 0 0 2 0 0 0.005 0 0 0 0 1 6.918 250025 chr7 100174980 100174980 C T rs369763673 LRCH4 Nonsynonymous SNV R404H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 250026 chr2 24930446 24930446 A G NCOA1 Nonsynonymous SNV T703A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.022 250027 chr16 71668551 71668551 G C rs368906441 MARVELD3 Nonsynonymous SNV G351R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.555 250028 chr2 32605257 32605257 G A rs765777358 BIRC6 Nonsynonymous SNV D182N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 250029 chr5 180276227 180276227 G C rs986087075 ZFP62 Synonymous SNV P756P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 250030 chr6 2678562 2678562 G A rs151300027 MYLK4 Nonsynonymous SNV T311M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 250031 chr6 90039425 90039425 G A rs3822871 UBE2J1 Synonymous SNV N310N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.965 250032 chr6 90383870 90383870 G A rs78107975 MDN1 Synonymous SNV D4400D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.104 250033 chr6 90572298 90572298 A G rs3734656 CASP8AP2 Synonymous SNV K290K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 250034 chr7 100682216 100682216 A G rs200633454 MUC17 Nonsynonymous SNV I2507V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 250035 chr16 86601555 86601555 A G FOXC2 Nonsynonymous SNV K205R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.092 250036 chr16 78198153 78198153 G A rs143067173 WWOX Synonymous SNV A48A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 12.43 250037 chr2 54001471 54001471 - CACCT CHAC2 Frameshift insertion L124Hfs*49 0 0 0.003 0 0 0 0 1 0 0 0 0 250038 chr7 113519746 113519746 A G PPP1R3A Synonymous SNV N467N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.792 250039 chr6 33690941 33690941 G C rs149420602 IP6K3 Stop gain Y263X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 250040 chr17 11806164 11806164 G C rs200977350 DNAH9 Nonsynonymous SNV K157N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 250041 chr17 12666995 12666995 T C rs370729858 LOC100128006 0 0.003 0 0 0 1 0 0 0 0 0 0 1.995 250042 chr17 12877457 12877457 G C rs755390538 ARHGAP44 Synonymous SNV S325S 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.75 250043 chr2 97637985 97637985 G T rs527349442 FAM178B Nonsynonymous SNV Q73K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 250044 chr7 148702308 148702308 C T PDIA4 Nonsynonymous SNV G484R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 250045 chr7 150737710 150737710 C T rs760992069 ABCB8 Synonymous SNV N371N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 250046 chr7 150884727 150884727 C T rs866706086 ASB10 Nonsynonymous SNV R28K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.282 250047 chr7 151073746 151073746 C T rs370586827 NUB1 Synonymous SNV L530L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 250048 chr6 43402516 43402516 T C rs777133792 ABCC10 Nonsynonymous SNV L470P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 250049 chr3 119534232 119534232 C T NR1I2 Stop gain Q334X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 250050 chr7 127222603 127222603 T G rs35125522 GCC1 Nonsynonymous SNV E598A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 250051 chr6 44329574 44329574 G A rs149471682 SPATS1 Nonsynonymous SNV G140E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 250052 chr6 47682128 47682128 G A rs150432409 ADGRF4 Nonsynonymous SNV V383M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 250053 chr8 8185436 8185436 C G rs769008508 PRAG1 Nonsynonymous SNV K952N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 250054 chr17 30815436 30815436 C T rs34511797 CDK5R1 Synonymous SNV N266N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 9.455 250055 chr18 52924622 52924622 G A TCF4 Nonsynonymous SNV A197V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 250056 chr8 17739572 17739572 G T FGL1 Synonymous SNV V60V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.39 250057 chr11 71202892 71202892 G A rs182956982 NADSYN1 Synonymous SNV A569A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.408 250058 chr3 149093268 149093268 G A rs147261725 TM4SF1 Synonymous SNV L125L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.883 250059 chr3 154146982 154146982 C G GPR149 Nonsynonymous SNV Q141H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.391 250060 chr3 158980457 158980457 C T rs766893360 IQCJ, IQCJ-SCHIP1 Synonymous SNV S65S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 250061 chr11 78369500 78369500 C T rs114100394 TENM4 Nonsynonymous SNV R2638Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.33 250062 chr17 39502849 39502849 T G rs149308293 KRT33A Nonsynonymous SNV R316S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.021 250063 chr3 184293763 184293763 T C EPHB3 Synonymous SNV S334S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.36 250064 chr17 38938419 38938419 G A rs370850502 KRT27 Synonymous SNV N109N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.98 250065 chr6 131486330 131486330 A G rs138197745 AKAP7 Nonsynonymous SNV Q134R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 250066 chr8 81897571 81897571 C T rs554012924 PAG1 Nonsynonymous SNV E106K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250067 chr8 82598095 82598095 G C rs758988628 IMPA1 Nonsynonymous SNV A19G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 250068 chr17 40933192 40933192 A G rs373246842 WNK4 Nonsynonymous SNV D159G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 250069 chr3 194062922 194062922 A G CPN2 Synonymous SNV H170H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 250070 chr8 103287981 103287981 C T rs374159239 UBR5 Synonymous SNV L2195L 0.001 0 0 0 1 0 0 0 0 0 0 0 15 250071 chr3 196796090 196796090 G A rs74674649 DLG1 Nonsynonymous SNV R578C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 250072 chr12 102036350 102036350 G C MYBPC1 Nonsynonymous SNV E222D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 250073 chr12 107208970 107208970 C T rs537750493 RIC8B Nonsynonymous SNV S194L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 250074 chr3 37695208 37695208 G C rs765049517 ITGA9 Nonsynonymous SNV V615L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 250075 chr3 38307581 38307581 C T rs35346548 SLC22A13 Nonsynonymous SNV A77V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.41 250076 chr6 160555074 160555074 C G rs145679335 SLC22A1 Synonymous SNV T252T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 250077 chr17 44952720 44952720 C T rs201141085 WNT9B Synonymous SNV H196H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.08 250078 chr8 142202903 142202903 G T rs373450406 DENND3 Synonymous SNV T1259T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.313 250079 chr3 4358330 4358330 C T rs568390003 SETMAR Synonymous SNV N197N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 250080 chr8 143857371 143857371 G A rs780846630 LYNX1, LYNX1-SLURP2 Nonsynonymous SNV T2M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 250081 chr8 144671745 144671745 G A EEF1D Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.411 250082 chr3 46757103 46757103 C T rs749611912 PRSS50 Nonsynonymous SNV R131Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.317 250083 chr12 122248223 122248223 G A rs768454479 SETD1B Nonsynonymous SNV D458N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 250084 chr8 144995788 144995788 G A rs200202579 PLEC Nonsynonymous SNV A2720V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.7 250085 chr17 4906947 4906947 G C KIF1C Nonsynonymous SNV R254P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 250086 chr3 49881275 49881275 G A TRAIP Stop gain Q123X 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 250087 chr3 49946704 49946704 G C rs201362782 MON1A Nonsynonymous SNV N438K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 250088 chr3 50340339 50340339 C G rs148307635 HYAL1 Nonsynonymous SNV D17H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 5.599 250089 chr7 5541096 5541096 G A rs758498023 FBXL18 Synonymous SNV S268S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 250090 chr12 132475960 132475960 T G rs148977141 EP400 Nonsynonymous SNV L880V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.051 250091 chr12 132688125 132688125 G A rs199528726 GALNT9 Synonymous SNV N30N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.76 250092 chr12 132834344 132834344 C T rs577106610 GALNT9 Synonymous SNV T281T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.49 250093 chr3 57317221 57317221 C T ASB14 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 250094 chr9 6015127 6015127 G T rs751460407 RANBP6 Nonsynonymous SNV H161N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 250095 chr3 64536649 64536649 G A rs141827552 ADAMTS9 Synonymous SNV D1568D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 7.581 250096 chr3 69987113 69987113 C T MITF Synonymous SNV G58G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 250097 chr8 107718957 107718957 A G OXR1 Nonsynonymous SNV N396S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.373 250098 chr9 36840580 36840580 C T rs146173797 PAX5 Nonsynonymous SNV A214T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250099 chr17 7606314 7606314 C T rs367678596 WRAP53 Synonymous SNV T424T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.63 250100 chr4 10446072 10446072 A G rs148218965 ZNF518B Synonymous SNV T627T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.55 250101 chr4 107230058 107230058 T G rs775570874 TBCK Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.324 250102 chr9 79841426 79841426 T C rs151069489 VPS13A Synonymous SNV D423D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 2.75 250103 chr9 85677742 85677742 C A RASEF Nonsynonymous SNV R14L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 250104 chr9 101797372 101797372 C T rs201969771 COL15A1 Nonsynonymous SNV P719L 0.003 0 0 0 4 0 0 0 0 0 0 0 25.6 250105 chr18 10455000 10455000 C G rs752598200 APCDD1 Nonsynonymous SNV L8V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.7 250106 chr4 169099080 169099093 AAAACCATGCTGCA - rs753292576 ANXA10 K192Nfs*31 0.001 0 0.007 0 1 0 0 2 0 0 0 0 250107 chr4 169157475 169157475 C G DDX60 Nonsynonymous SNV L1487F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 250108 chr4 17649381 17649381 G C FAM184B Nonsynonymous SNV A742G 0 0 0.003 0 0 0 0 1 0 0 0 0 24 250109 chr9 117187337 117187337 A G rs754127686 WHRN Synonymous SNV N27N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.539 250110 chr4 187541372 187541372 T A FAT1 Nonsynonymous SNV H2123L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.4 250111 chr4 188924717 188924717 C T rs370321586 ZFP42 Synonymous SNV C252C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 250112 chr9 127115853 127115853 C T rs201255811 LOC100129034 0.001 0 0 0 1 0 0 0 0 0 0 0 5.984 250113 chr8 24254856 24254856 G A rs200134300 ADAMDEC1 Nonsynonymous SNV V93I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.125 250114 chr4 38016268 38016268 A T TBC1D1 Stop gain K186X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 250115 chr4 38091628 38091628 C G TBC1D1 Nonsynonymous SNV P709R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 250116 chr18 21427571 21427571 T G rs767046193 LAMA3 Nonsynonymous SNV S1359A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 250117 chr4 40810832 40810832 G A rs543071665 NSUN7 Nonsynonymous SNV R678H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 250118 chr4 56466708 56466708 C T rs556803269 NMU Nonsynonymous SNV R141Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 250119 chr9 139273290 139273290 C T rs138629142 SNAPC4 Nonsynonymous SNV E997K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.709 250120 chr4 68925155 68925155 T C rs149646570 TMPRSS11F Synonymous SNV R349R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.012 250121 chr18 44143128 44143128 C T rs750370059 LOXHD1 Nonsynonymous SNV R833Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 250122 chr4 71892397 71892397 T C rs368766396 DCK Synonymous SNV Y227Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 250123 chr7 133580445 133580445 G A rs201852656 EXOC4 Nonsynonymous SNV V610M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 250124 chr4 73205407 73205407 G A rs748402366 ADAMTS3 Nonsynonymous SNV S222L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 250125 chr8 76471052 76471052 C A HNF4G Nonsynonymous SNV S301R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.74 250126 chr18 61058268 61058268 G A VPS4B Synonymous SNV V425V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 250127 chr4 85742287 85742287 T C WDFY3 Nonsynonymous SNV H514R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.883 250128 chr4 86916249 86916249 C T rs147870358 ARHGAP24 Nonsynonymous SNV T288M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 250129 chr19 11979254 11979254 G A rs141562312 ZNF439 Nonsynonymous SNV R321H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.06 250130 chr19 14000061 14000061 C T rs1031464238 C19orf57 Synonymous SNV L418L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.889 250131 chr19 14040376 14040376 G A rs761438300 CC2D1A Synonymous SNV P871P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.41 250132 chr19 14184408 14184408 T A rs1043473513 MISP3 Nonsynonymous SNV L96Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 250133 chr19 14593518 14593518 G A rs146515353 GIPC1 Nonsynonymous SNV R91C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 250134 chr10 23633390 23633390 C T LOC105376453 0.001 0 0 0 1 0 0 0 0 0 0 0 8.39 250135 chr13 36382372 36382372 C T rs575565299 DCLK1 Nonsynonymous SNV D311N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 250136 chr19 16688172 16688172 C T rs765975570 MED26 Nonsynonymous SNV G157S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 250137 chr19 16890267 16890267 G A rs778568082 NWD1 Nonsynonymous SNV G702R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 250138 chr19 16986890 16986890 G A rs143316883 SIN3B Nonsynonymous SNV V463I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.567 250139 chr9 123292287 123292287 G A rs200985313 CDK5RAP2 Nonsynonymous SNV A265V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 250140 chr9 124088927 124088927 C T rs145051977 GSN Synonymous SNV R569R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.73 250141 chr9 125141057 125141057 G A rs754563323 PTGS1 Nonsynonymous SNV R10H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 250142 chr5 137519971 137519971 C T KIF20A Stop gain R466X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 250143 chr19 17716867 17716867 G A rs747578104 UNC13A Nonsynonymous SNV P1703L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 250144 chr5 138729658 138729658 C T rs757955665 PROB1 Synonymous SNV R371R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 250145 chr5 140073804 140073804 G T rs758738918 HARS2 Nonsynonymous SNV G88V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 250146 chr5 140256884 140256884 C A rs374061607 PCDHA12 Stop gain Y609X 0 0 0.007 0 0 0 0 2 0 0 0 0 29.7 250147 chr19 18502832 18502832 T C rs146270800 LRRC25 Nonsynonymous SNV M295V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 250148 chr5 140502471 140502471 G A rs375984500 PCDHB4 Synonymous SNV T297T 0 0 0.007 0 0 0 0 2 0 0 0 0 8.022 250149 chr19 18779743 18779743 C T rs776688679 KLHL26 Synonymous SNV A541A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.463 250150 chr5 140682535 140682535 C T rs562162894 SLC25A2 Nonsynonymous SNV A300T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 250151 chr8 17554863 17554863 G A rs774267428 MTUS1 Synonymous SNV S8S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 250152 chr13 114290332 114290332 C T rs148175670 TFDP1 Nonsynonymous SNV A243V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 250153 chr5 140856512 140856512 G A PCDHGC3 Nonsynonymous SNV G277S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 250154 chr19 2225414 2225414 C T rs372334546 DOT1L Synonymous SNV S1208S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.12 250155 chr5 14472733 14472733 G A rs780065387 TRIO Nonsynonymous SNV R1982H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 250156 chr11 640037 640037 C T DRD4 Nonsynonymous SNV A263V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 250157 chr5 145883082 145883082 T C TCERG1 Nonsynonymous SNV Y822H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 250158 chr5 149265921 149265921 C T rs77760924 PDE6A Nonsynonymous SNV R582H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 250159 chr5 149677642 149677642 T C ARSI Nonsynonymous SNV K282R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 250160 chr19 33183181 33183181 C G rs554570224 NUDT19 Synonymous SNV P105P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.3 250161 chr19 33350845 33350845 C T rs121908483 SLC7A9 Nonsynonymous SNV G259R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely pathogenic 31 250162 chr19 18194264 18194264 C T rs146978336 IL12RB1 Synonymous SNV P34P 0.005 0.003 0.007 0 6 1 0 2 0 0 0 0 Benign 13.58 250163 chr5 162898462 162898462 G A rs144523729 HMMR Nonsynonymous SNV G128R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 250164 chr10 89623742 89623742 - GCGGCGGCT PTEN A17_P18insAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 250165 chr19 36029225 36029225 C T rs375182770 GAPDHS Nonsynonymous SNV R88C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 35 250166 chr5 167303134 167303134 G A TENM2 Nonsynonymous SNV E64K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 250167 chr8 67576853 67576853 T C VCPIP1 Nonsynonymous SNV T781A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 250168 chr5 176813285 176813285 T C rs755488804 SLC34A1 Nonsynonymous SNV L108P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 250169 chr5 178016941 178016941 G A COL23A1 Synonymous SNV A86A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.832 250170 chr19 33240692 33240692 A G rs201268108 TDRD12 Nonsynonymous SNV T167A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.86 250171 chr10 101690215 101690215 A T DNMBP Nonsynonymous SNV S102R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.483 250172 chr10 105152137 105152137 A G ATP5MD Synonymous SNV G26G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.09 250173 chr19 35823514 35823514 C T rs183001623 CD22 Synonymous SNV Y33Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.99 250174 chr5 38370430 38370430 A G EGFLAM Nonsynonymous SNV H193R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.06 250175 chr10 105830198 105830198 G A rs756409986 COL17A1 Nonsynonymous SNV A198V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 250176 chr14 70252944 70252944 T C rs201932098 SLC10A1 Nonsynonymous SNV Y146C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.9 250177 chr14 52486894 52486894 C T rs138740135 NID2 Nonsynonymous SNV V893I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.594 250178 chr19 42132031 42132031 C A rs147125003 CEACAM4 Nonsynonymous SNV R123L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.75 250179 chr10 115970675 115970675 C T rs201263506 TDRD1 Nonsynonymous SNV R537C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 250180 chr14 55605038 55605038 C T rs78964872 LGALS3 Synonymous SNV T98T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.051 250181 chr14 55878366 55878366 C T rs57295720 ATG14 Nonsynonymous SNV V59I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.93 250182 chr14 75365199 75365199 G T DLST Nonsynonymous SNV A300S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 250183 chr14 57714397 57714397 G T rs199912312 EXOC5 Nonsynonymous SNV L21I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 250184 chr10 118425251 118425251 G A rs782308172 C10orf82 Nonsynonymous SNV R48C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 250185 chr10 122663609 122663609 T C rs762626322 WDR11 Synonymous SNV Y994Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.854 250186 chr10 123734492 123734492 G A NSMCE4A Synonymous SNV S63S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.87 250187 chr10 124380739 124380739 G T DMBT1 Synonymous SNV S1060S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 250188 chr19 44661675 44661675 T C rs368463448 ZNF234 Synonymous SNV H502H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.177 250189 chr10 127727913 127727913 G A rs56651369 ADAM12 Synonymous SNV T730T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 250190 chr10 129676576 129676576 G A rs201937344 CLRN3 Nonsynonymous SNV T173M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.721 250191 chr14 68191259 68191259 C T rs140371232 RDH12 Synonymous SNV G46G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.28 250192 chr14 69967628 69967628 C G PLEKHD1 Nonsynonymous SNV T125S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.983 250193 chr5 79026763 79026763 T C rs199584475 CMYA5 Synonymous SNV G725G 0 0.003 0.01 1 0 1 0.003 3 0 0 0 0 0.22 250194 chr19 45494534 45494534 C T rs150481529 CLPTM1 Synonymous SNV L472L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.54 250195 chr19 45579532 45579532 G A rs776581206 ZNF296 Nonsynonymous SNV L34F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.89 250196 chr14 75180205 75180208 AAGG - FCF1 R8Sfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 250197 chr5 89948189 89948189 G A rs200945405 ADGRV1 Nonsynonymous SNV G1148D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 250198 chr10 135126330 135126330 G A rs781561702 ZNF511 Nonsynonymous SNV R240Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 250199 chr12 109843753 109843753 C T MYO1H Synonymous SNV V276V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.79 250200 chrX 135496326 135496326 C A rs140250794 ADGRG4 Nonsynonymous SNV S3015R 0.003 0.005 0 3 3 2 0.008 0 1 1 0 1 19.54 250201 chrX 136112642 136112642 C T GPR101 Nonsynonymous SNV A398T 0.006 0.005 0 3 7 2 0.008 0 2 1 0 1 26.9 250202 chr12 111072248 111072248 G A rs199643775 TCTN1 Nonsynonymous SNV E254K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.196 250203 chr19 48800464 48800464 C T rs568161381 CCDC114 Synonymous SNV S594S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.4 250204 chr6 106899407 106899407 G A rs143656960 LOC105377924 0 0 0.007 0 0 0 0 2 0 0 0 0 2.519 250205 chr19 49174077 49174077 C T rs139133976 NTN5 Nonsynonymous SNV G56D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.002 250206 chr9 14824896 14824896 G T FREM1 Nonsynonymous SNV A659D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 250207 chr19 50100029 50100029 T C rs774005595 PRR12 Nonsynonymous SNV S813P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.28 250208 chr6 127771452 127771452 T A rs3734447 KIAA0408 Nonsynonymous SNV S61C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.041 250209 chr9 35364551 35364551 G A rs961569080 UNC13B Nonsynonymous SNV R765Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 250210 chr6 136732800 136732800 G A rs749630280 MAP7 Nonsynonymous SNV R90W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 250211 chr6 138628503 138628503 G A rs140836920 ARFGEF3 Nonsynonymous SNV M1314I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 250212 chr9 38396813 38396813 C T ALDH1B1 Synonymous SNV T356T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.173 250213 chr9 38414152 38414152 G A rs201192309 IGFBPL1 Nonsynonymous SNV A170V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 250214 chr6 143094843 143094843 T C rs141050437 HIVEP2 Nonsynonymous SNV I345V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.001 250215 chr12 132399762 132399762 C T rs55824543 ULK1 Nonsynonymous SNV T503M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.41 250216 chr11 2424288 2424288 G A rs780342193 TSSC4 Nonsynonymous SNV R142Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.614 250217 chr12 19592829 19592840 GGCGGCGGAGGC - rs558021601 AEBP2 G70_G73del 0 0 0 1 0 0 0.003 0 0 0 0 0 250218 chr11 4842840 4842840 T C rs757363176 OR51F2 Synonymous SNV Y63Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.001 250219 chr12 21918867 21918867 G T KCNJ8 Synonymous SNV A355A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.04 250220 chr6 158923778 158923778 C T rs199631281 TULP4 Nonsynonymous SNV A1028V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.721 250221 chr10 102265186 102265186 C T rs778023087 SEC31B Nonsynonymous SNV A371T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.7 250222 chr6 159420870 159420870 C T rs756954187 RSPH3 Nonsynonymous SNV D47N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.962 250223 chr6 159420874 159420874 A C rs764036988 RSPH3 Synonymous SNV P45P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 250224 chr6 161582294 161582294 C T rs753762484 AGPAT4-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.683 250225 chr19 51519399 51519399 G A KLK10 Stop gain R95X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 250226 chr15 62457051 62457051 G C rs780140786 C2CD4B Nonsynonymous SNV L45V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.712 250227 chr19 55889044 55889046 TGC - rs749843553 TMEM190 C61del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 250228 chr15 65257784 65257784 C T rs762934056 SPG21 Synonymous SNV A202A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 19.38 250229 chr19 52403502 52403502 T A rs527721875 ZNF649-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 9.511 250230 chr6 26020917 26020917 C T rs143364138 HIST1H3A Nonsynonymous SNV P67L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 250231 chr15 69320661 69320661 C T rs759200679 NOX5 Nonsynonymous SNV P94L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.89 250232 chr6 26240711 26240711 C T rs41266817 HIST1H4F Nonsynonymous SNV R20C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 250233 chr15 73615740 73615740 G A rs375169111 HCN4 Synonymous SNV G898G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.679 250234 chr10 125801888 125801888 G A rs376959811 CHST15 Nonsynonymous SNV A321V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 250235 chr9 125282339 125282339 G C OR1J4 Nonsynonymous SNV R307T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 250236 chr9 125438300 125438300 C T rs141596002 OR1L3 Nonsynonymous SNV R298W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 250237 chr10 129859105 129859105 G A AS-PTPRE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.77 250238 chr9 127176207 127176207 G A rs778715234 PSMB7 Synonymous SNV H78H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.21 250239 chr19 54973539 54973539 C T rs764496170 LENG9 Nonsynonymous SNV A413T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 250240 chr15 81650602 81650602 C T rs201198651 TMC3 Nonsynonymous SNV G211R 0.002 0 0 0 2 0 0 0 0 0 0 0 34 250241 chr11 10825912 10825912 T C rs147893651 EIF4G2 Synonymous SNV L135L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.264 250242 chr17 78064113 78064113 A C CCDC40 Nonsynonymous SNV N1003T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.477 250243 chr17 78064141 78064200 AACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAAC - CCDC40 R1014_T1027delinsQDTHSTCMNNTGHTQ 0.001 0 0 0 1 0 0 0 0 0 0 0 250244 chr10 16942699 16942699 G A CUBN Synonymous SNV L2779L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.728 250245 chr19 7964445 7964445 C T rs147820079 LRRC8E Synonymous SNV S217S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.68 250246 chr11 18359784 18359784 A G rs151079152 GTF2H1 Nonsynonymous SNV N159S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.087 250247 chr6 51609212 51609212 G A PKHD1 Nonsynonymous SNV A3376V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 250248 chr10 23633737 23633737 C T rs745836520 LOC105376453 0 0 0 1 0 0 0.003 0 0 0 0 0 8.787 250249 chr6 52138606 52138606 G A rs148636199 MCM3 Nonsynonymous SNV R214W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 250250 chr6 56989596 56989596 G A rs763095241 ZNF451 Nonsynonymous SNV R84H 0 0 0.007 0 0 0 0 2 0 0 0 0 34 250251 chr10 44065695 44065695 G A ZNF239 Synonymous SNV N17N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.15 250252 chr19 9049228 9049228 C T rs746940715 MUC16 Synonymous SNV A10801A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.8 250253 chr11 44099439 44099439 G T rs201529252 ACCS Nonsynonymous SNV K233N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 250254 chr11 44105036 44105036 G A rs758290087 ACCS Synonymous SNV K439K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.28 250255 chr6 80745100 80745100 T A TTK Nonsynonymous SNV N629K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 250256 chr6 85472423 85472423 C A rs188296060 TBX18 Synonymous SNV A112A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.91 250257 chr19 731135 731135 G A rs144513487 PALM Nonsynonymous SNV A104T 0.002 0.003 0 0 2 1 0 0 1 0 0 0 6.748 250258 chr10 1056447 1056447 C T GTPBP4 Nonsynonymous SNV P444L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250259 chr10 61828758 61828758 T C rs771016844 ANK3 Nonsynonymous SNV T3961A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.179 250260 chr10 70166523 70166523 G A rs200501110 RUFY2 Nonsynonymous SNV R33C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 250261 chr1 111060115 111060123 GGGGTGGTC - KCNA10 T430_P432del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 250262 chr10 71903617 71903617 G A rs142679995 TYSND1 Synonymous SNV P426P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.56 250263 chr10 72289648 72289648 C T rs373966854 PALD1 Nonsynonymous SNV R98C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 250264 chr10 72292530 72292530 A C rs748858432 PALD1 Nonsynonymous SNV T263P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.52 250265 chr10 19620493 19620493 G T MALRD1 Stop gain E1295X 0.001 0 0 0 1 0 0 0 0 0 0 0 52 250266 chr10 75533410 75533410 G A rs199728665 FUT11 Nonsynonymous SNV V391I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.4 250267 chr7 100732375 100732375 G A rs777737174 TRIM56 Synonymous SNV V594V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.764 250268 chr10 76789092 76789092 G A rs200393557 KAT6B Nonsynonymous SNV E723K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.01 250269 chr16 3335101 3335101 C G rs142722524 ZNF263 Nonsynonymous SNV P144A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.406 250270 chr10 81838681 81838681 G T rs181443659 TMEM254-AS1 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.763 250271 chr1 10205063 10205063 G A rs762423683 UBE4B Nonsynonymous SNV R681H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 250272 chr1 12423143 12423143 G A rs368255830 VPS13D Nonsynonymous SNV E3405K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 250273 chr7 138602716 138602716 G A rs113045455 KIAA1549 Synonymous SNV S552S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.338 250274 chr7 140380908 140380908 C T rs376435154 ADCK2 Nonsynonymous SNV R426W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 250275 chr1 152275523 152275523 G A rs141145933 FLG Nonsynonymous SNV R3947C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 250276 chr1 11835499 11835499 G A rs149098511 C1orf167 Nonsynonymous SNV G666R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.2 250277 chr10 63959567 63959567 G A rs373879136 RTKN2 Nonsynonymous SNV R414W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250278 chr7 143748231 143748231 G A OR2A5 Nonsynonymous SNV C246Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 250279 chr1 1248052 1248052 G A rs200438797 INTS11 Synonymous SNV G343G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.075 250280 chr7 150500841 150500841 G A TMEM176A Stop gain W159X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 250281 chr10 72517769 72517769 A C ADAMTS14 Nonsynonymous SNV T997P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 250282 chr11 59631466 59631466 A G rs145176701 TCN1 Nonsynonymous SNV V58A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 250283 chr7 150938647 150938647 A G SMARCD3 Synonymous SNV Y290Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 250284 chr1 151509316 151509316 T C CGN Synonymous SNV H1139H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.751 250285 chr1 151509331 151509331 G A CGN Synonymous SNV Q1144Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.367 250286 chr11 105881218 105881218 C T rs768513003 MSANTD4 Nonsynonymous SNV V143M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 250287 chr7 158325492 158325492 G A rs202194191 MIR595 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 250288 chr7 158545502 158545502 C G ESYT2 Nonsynonymous SNV L484F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.7 250289 chr1 160125859 160125859 G A rs41288133 ATP1A4 Nonsynonymous SNV V146I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.018 250290 chr7 2834726 2834726 A G rs145512130 GNA12 Nonsynonymous SNV Y121H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 250291 chr7 30638442 30638442 A G rs200294578 GARS Nonsynonymous SNV K31E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.4 250292 chr11 113725026 113725026 T C USP28 Nonsynonymous SNV E30G 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 250293 chr11 118184567 118184567 G A rs78373007 CD3E Synonymous SNV A166A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 8.252 250294 chr11 121038848 121038848 C T rs200977539 TECTA Nonsynonymous SNV T1891M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 250295 chr7 47906115 47906115 G A rs148086331 PKD1L1 Nonsynonymous SNV R1332C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24 250296 chr11 67274431 67274431 C T CDK2AP2 Synonymous SNV R67R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 250297 chr11 124908400 124908400 C G rs199594697 CCDC15 Nonsynonymous SNV P829A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.95 250298 chr1 17982383 17982383 G A rs1013769138 ARHGEF10L Nonsynonymous SNV G534R 0 0.005 0 0 0 2 0 0 0 0 0 0 16.65 250299 chr11 78780946 78780946 C T rs765061654 TENM4 Nonsynonymous SNV R15H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 250300 chr7 80286010 80286010 C G rs150037612 CD36 Nonsynonymous SNV T92R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 250301 chr11 13733582 13733582 C T rs375047765 FAR1 Synonymous SNV S292S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 19.01 250302 chr11 93822124 93822124 A G HEPHL1 Nonsynonymous SNV R762G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 250303 chr17 4798667 4798667 G A rs747366984 MINK1 Synonymous SNV T999T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.54 250304 chr11 18320376 18320376 G A rs764861032 HPS5 Nonsynonymous SNV T262I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.74 250305 chr11 112072817 112072817 C A BCO2 Synonymous SNV G293G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 250306 chr8 105510261 105510261 A G rs149858288 LRP12 Synonymous SNV C154C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 250307 chr1 20499370 20499370 G C rs370087234 PLA2G2C Nonsynonymous SNV S65C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 250308 chr8 110460588 110460588 C T rs201346176 PKHD1L1 Nonsynonymous SNV P1998L 0 0 0.003 0 0 0 0 1 0 0 0 0 21 250309 chr11 118344431 118344431 A G rs377739026 KMT2A Nonsynonymous SNV K853E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 250310 chr11 280241 280241 T C rs753473671 NLRP6 Synonymous SNV P169P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 250311 chr1 209605795 209605795 C T rs555676600 MIR205HG 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.974 250312 chr11 35227766 35227766 G C rs201442534 CD44 Nonsynonymous SNV G421R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 250313 chr17 15212099 15212099 C T rs144109538 TEKT3 Nonsynonymous SNV E380K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 250314 chr17 16137305 16137305 G C rs764862840 PIGL Nonsynonymous SNV E86Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.84 250315 chr1 214794075 214794075 C T rs201702404 CENPF Synonymous SNV F217F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.21 250316 chr17 18881399 18881399 A G rs748421854 FAM83G Nonsynonymous SNV L527P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 250317 chr11 125617307 125617307 G A rs370118013 PATE1 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 250318 chr11 1250476 1250476 C T rs376020643 MUC5B Synonymous SNV R351R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.294 250319 chr11 129245985 129245985 A G rs200866072 BARX2 Nonsynonymous SNV R19G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 250320 chr17 40665986 40665986 C T rs766528896 ATP6V0A1 Synonymous SNV L747L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.9 250321 chr17 40822362 40822362 G T PLEKHH3 Synonymous SNV P529P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.33 250322 chr17 40822363 40822363 G C PLEKHH3 Nonsynonymous SNV P529R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 250323 chr17 41006678 41006678 T C AOC3 Nonsynonymous SNV I605T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.1 250324 chr8 144943489 144943489 C T EPPK1 Synonymous SNV R1311R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 250325 chr8 145583577 145583577 G A rs560681538 SLC52A2 Nonsynonymous SNV R142H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 12.69 250326 chr1 228559191 228559191 C T rs765917634 OBSCN Synonymous SNV G6904G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.75 250327 chr1 229771085 229771085 G A rs773874122 URB2 Nonsynonymous SNV R242Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.081 250328 chr8 26505307 26505307 A C rs139163162 DPYSL2 Synonymous SNV T529T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.2 250329 chr1 226420830 226420830 T C rs778959811 LIN9 Nonsynonymous SNV D404G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 250330 chr11 55339685 55339685 - T rs757925718 OR4C16 Frameshift insertion L30Ffs*11 0.001 0 0 1 1 0 0.003 0 0 0 0 0 250331 chr11 55540923 55540923 T C rs535209299 OR5D13 Nonsynonymous SNV S4P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.183 250332 chr12 14613471 14613471 G A rs74069866 ATF7IP Nonsynonymous SNV S733N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.08 250333 chr8 38148165 38148165 C T rs769728648 NSD3 Synonymous SNV R982R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 250334 chr8 52359705 52359705 C G PXDNL Nonsynonymous SNV E462Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 250335 chr12 27915699 27915699 C T rs146148354 MANSC4 Nonsynonymous SNV R332H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.584 250336 chr11 12264293 12264293 A T rs148802800 MICAL2 Nonsynonymous SNV M878L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.047 250337 chr1 248525124 248525124 T A rs748273118 OR2T4 Nonsynonymous SNV I81K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 250338 chr11 13032022 13032022 A C rs763260519 RASSF10 Nonsynonymous SNV E300A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 250339 chr11 14907366 14907366 T G CYP2R1 Nonsynonymous SNV D108A 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 250340 chr11 17115874 17115874 G A rs144399985 PIK3C2A Nonsynonymous SNV T1082I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 250341 chr11 17408920 17408920 A G KCNJ11 Nonsynonymous SNV M240T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 250342 chr1 26608868 26608897 GGGACTGGGGCCGGGACCGGGACCGGGACA - rs752732935 UBXN11 C366_P375del 0 0.005 0 0 0 2 0 0 0 0 0 0 250343 chr1 26670253 26670253 G A rs774452827 CRYBG2 Synonymous SNV L966L 0.002 0.008 0 0 2 3 0 0 0 0 0 0 1.76 250344 chr1 26670966 26670966 G A rs760534732 CRYBG2 Nonsynonymous SNV T728I 0.002 0.008 0 0 2 3 0 0 0 0 0 0 7.96 250345 chr1 28607255 28607255 C T rs988053889 SESN2 Nonsynonymous SNV A462V 0 0.005 0 0 0 2 0 0 0 0 0 0 35 250346 chr9 107578618 107578618 C T rs143180998 ABCA1 Nonsynonymous SNV A1182T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.9 250347 chr11 59947306 59947306 A C MS4A6A Nonsynonymous SNV F122V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.493 250348 chr9 116053252 116053252 C T rs199753287 PRPF4 Nonsynonymous SNV T443I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 250349 chr15 85401258 85401258 C T rs769254376 ALPK3 Nonsynonymous SNV P1097S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 0.061 250350 chr9 116999294 116999294 C T rs535822192 COL27A1 Nonsynonymous SNV R885W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 250351 chr9 118969840 118969840 A C PAPPA Synonymous SNV V528V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.206 250352 chr11 62744676 62744676 C T rs369693725 SLC22A6 Synonymous SNV T515T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.75 250353 chr12 57962770 57962770 G C KIF5A Nonsynonymous SNV A158P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 250354 chr11 64120238 64120238 C T rs146372637 CCDC88B Nonsynonymous SNV R1127W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 250355 chr1 38489253 38489253 G A rs750177283 UTP11 Nonsynonymous SNV V239M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 250356 chr11 64985051 64985051 A G rs779249725 SLC22A20P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 250357 chr11 65793163 65793163 G A rs113202862 CATSPER1 Nonsynonymous SNV R230C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.01 250358 chr16 17353112 17353112 C T XYLT1 Nonsynonymous SNV V216M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.83 250359 chr16 17353241 17353241 G C rs771721270 XYLT1 Nonsynonymous SNV Q173E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 250360 chr9 137742628 137742628 G A MIR3689F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.514 250361 chr1 62593749 62593749 C T rs146406799 PATJ Nonsynonymous SNV R1717W 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 35 250362 chr9 138903608 138903608 G C rs752924990 NACC2 Nonsynonymous SNV I506M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.44 250363 chr9 139616386 139616386 G A rs772305344 DIPK1B Nonsynonymous SNV R71H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 250364 chr11 67377961 67377961 G A NDUFV1 Nonsynonymous SNV G198E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.9 250365 chr11 67799758 67799758 C T rs369602258 NDUFS8 Nonsynonymous SNV P22S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.981 250366 chr9 139915469 139915469 C T rs200632052 ABCA2 Synonymous SNV A314A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.13 250367 chr12 109055848 109055848 G A rs372909353 CORO1C Synonymous SNV I188I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 250368 chr11 71175180 71175180 G A rs926575716 NADSYN1 Synonymous SNV S133S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.597 250369 chr9 21481377 21481377 G A rs147289613 IFNE Nonsynonymous SNV T106M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.29 250370 chr11 73019782 73019782 G A rs770607033 ARHGEF17 Synonymous SNV T33T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.82 250371 chr9 22447144 22447144 C T rs774829612 DMRTA1 Nonsynonymous SNV A27V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 250372 chr18 8314846 8314846 T C PTPRM Synonymous SNV N957N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.105 250373 chr9 27204916 27204916 G A rs767259469 TEK Synonymous SNV A592A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.954 250374 chr12 124371714 124371714 G A rs371362994 DNAH10 Nonsynonymous SNV G2832D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 250375 chr9 5072561 5072561 G A rs139504737 JAK2 Nonsynonymous SNV G422S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 250376 chr12 132241165 132241165 G A rs763682971 SFSWAP Nonsynonymous SNV V566I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.786 250377 chr1 9996669 9996669 G A rs760621463 LZIC Synonymous SNV S3S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 11.6 250378 chr18 47801535 47801535 T C MBD1 Synonymous SNV P242P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 250379 chr11 99690483 99690483 - AACTGAGGAACCAGGCA rs766473062 CNTN5 Stop gain F89Nfs*2 0 0 0.003 1 0 0 0.003 1 0 0 0 0 250380 chr11 99690485 99690485 - ATTTTGTCGATAGATC rs749845332 CNTN5 Stop gain F89Lfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 250381 chr13 28130518 28130518 T C LNX2 Synonymous SNV K467K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.952 250382 chr1 89844154 89844154 G A rs144565821 GBP6 Nonsynonymous SNV A73T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 250383 chr19 10259613 10259613 G A rs199832007 DNMT1 Synonymous SNV Y873Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.2 250384 chr13 33338714 33338714 C T rs41292175 PDS5B Synonymous SNV D1202D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.59 250385 chr12 105451853 105451853 A C ALDH1L2 Nonsynonymous SNV Y429D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 250386 chrX 114874753 114874753 A G rs140968059 PLS3 Nonsynonymous SNV I309V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.38 250387 chr1 94342716 94342716 T C rs764729684 DNTTIP2 Nonsynonymous SNV N259D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 250388 chr13 42874149 42874149 C G AKAP11 Nonsynonymous SNV P423A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 250389 chrX 142121876 142121876 A T rs10482390 SPANXN4 Nonsynonymous SNV K48N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 250390 chr13 50586379 50586379 T C rs200321513 TRIM13 Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 250391 chr13 73329349 73329349 C A rs201254426 BORA Nonsynonymous SNV P508T 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 24 250392 chr19 13372317 13372317 C T CACNA1A Synonymous SNV K1400K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.5 250393 chr12 117423186 117423186 G A rs200154719 FBXW8 Synonymous SNV A271A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.09 250394 chrX 37850385 37850385 C T rs61737321 HYPM Nonsynonymous SNV A98V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 250395 chr20 25388499 25388499 C A GINS1 Nonsynonymous SNV R15S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 250396 chr13 103492133 103492133 C T rs139012037 BIVM, BIVM-ERCC5 Nonsynonymous SNV S255L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 250397 chr19 1047367 1047367 G A ABCA7 Nonsynonymous SNV R686H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.52 250398 chr20 32883248 32883248 C T rs751771176 AHCY Nonsynonymous SNV V58M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 250399 chr20 33572916 33572916 C T rs372654892 MYH7B Synonymous SNV S305S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.72 250400 chrX 77912720 77912720 G A rs376343340 RTL3 Nonsynonymous SNV P400S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 250401 chr12 12814781 12814781 A T GPR19 Nonsynonymous SNV F201Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 250402 chr12 129285446 129285446 G A SLC15A4 Nonsynonymous SNV P456L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 250403 chr14 20344597 20344597 T C rs74036119 OR4K2 Synonymous SNV S57S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 250404 chr14 20389204 20389204 A T rs775499743 OR4K5 Nonsynonymous SNV I147F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 250405 chr12 132426367 132426367 G T rs771290692 PUS1 Nonsynonymous SNV A331S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.743 250406 chr10 103543120 103543120 C A rs772953183 NPM3 Nonsynonymous SNV A10S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.94 250407 chr10 104162970 104162970 C T rs147203944 PSD Nonsynonymous SNV R1021Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 250408 chr10 104183604 104183604 G A rs190809867 CUEDC2 Nonsynonymous SNV R203C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 250409 chr10 104210754 104210754 G T C10orf95 Nonsynonymous SNV P33T 0 0 0.003 0 0 0 0 1 0 0 0 0 36 250410 chr10 105128106 105128106 C T rs374549931 TAF5 Synonymous SNV A120A 0 0 0.007 0 0 0 0 2 0 0 0 0 19.6 250411 chr19 1986848 1986848 G A rs750923797 BTBD2 Nonsynonymous SNV T466M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 250412 chr10 112838989 112838989 C T rs148162881 ADRA2A Nonsynonymous SNV T412M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.29 250413 chr19 23927677 23927677 C T rs376617845 ZNF681 Synonymous SNV S225S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 250414 chr19 6427485 6427485 G A rs780164998 SLC25A41 Nonsynonymous SNV R218W 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 22.7 250415 chr10 121341465 121341465 T C TIAL1 Nonsynonymous SNV K131E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 250416 chr14 24734933 24734933 G A rs201173826 RABGGTA Nonsynonymous SNV S531F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 250417 chr19 3157763 3157763 T C GNA15 Nonsynonymous SNV I261T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 250418 chr10 123734632 123734632 G A NSMCE4A Nonsynonymous SNV R17C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 250419 chr10 124594540 124594540 C T rs188322992 CUZD1 Nonsynonymous SNV R355H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 250420 chr19 8399665 8399665 G A rs917278312 KANK3 Nonsynonymous SNV A349V 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.437 250421 chr20 61048476 61048476 G A rs6061554 GATA5 Nonsynonymous SNV R228W 0 0.003 0.007 0 0 1 0 2 0 0 0 0 26.6 250422 chr14 52465255 52465255 T A rs35006177 RTRAF Synonymous SNV A110A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 250423 chr19 3760214 3760214 C G rs201096128 APBA3 Nonsynonymous SNV D17H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 250424 chr12 49446730 49446730 G A rs369427465 KMT2D Synonymous SNV S360S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.517 250425 chr10 135044737 135044737 C A rs749598849 UTF1 Nonsynonymous SNV P273T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.377 250426 chr11 130060376 130060376 G T rs371005131 ST14 Nonsynonymous SNV R221L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 250427 chr14 61190133 61190133 G T SIX4 Synonymous SNV I220I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 250428 chr19 39866326 39866326 G A rs749676087 SAMD4B Nonsynonymous SNV R235H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 250429 chr19 9226317 9226317 C T rs756428046 OR7G1 Synonymous SNV G41G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 5.227 250430 chr21 43979201 43979201 T G SLC37A1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.24 250431 chr19 40744863 40744863 G A rs371334732 AKT2 Synonymous SNV F157F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.02 250432 chr21 33684059 33684059 C A rs376465589 MRAP Nonsynonymous SNV Q32K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 3.716 250433 chr10 43883310 43883310 C A HNRNPF Nonsynonymous SNV G8V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 250434 chr19 13318673 13318681 CTGCTGCTG - rs752539801 CACNA1A Q2323_Q2325del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 250435 chr14 78353521 78353521 C T rs200983054 ADCK1 Nonsynonymous SNV R103W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 250436 chr21 48064382 48064382 C T rs144321816 PRMT2 Synonymous SNV F103F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.35 250437 chr12 57501993 57501993 G A rs772021515 STAT6 Synonymous SNV P23P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.41 250438 chr12 58090081 58090081 A G OS9 Synonymous SNV K109K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.976 250439 chr12 6076748 6076748 G A rs775574792 VWF Synonymous SNV I2597I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.14 250440 chr10 52384776 52384776 C A SGMS1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.529 250441 chr12 14613889 14613889 G A rs758954450 ATF7IP Synonymous SNV Q872Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.208 250442 chr10 61835454 61835454 A T ANK3 Nonsynonymous SNV S1729T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.48 250443 chr19 46265371 46265371 C G rs903995053 BHMG1 Nonsynonymous SNV P537A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 250444 chr12 6883143 6883143 C T LAG3 Nonsynonymous SNV R163C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 250445 chr19 46387482 46387482 C T rs751233070 IRF2BP1 Synonymous SNV Q517Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.777 250446 chr12 21998558 21998558 G A ABCC9 Synonymous SNV N1025N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.369 250447 chr19 47424887 47424887 A C rs375450853 ARHGAP35 Synonymous SNV S985S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.008 250448 chr12 27126968 27126968 C T rs35443576 TM7SF3 Nonsynonymous SNV R548Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 250449 chr22 30860869 30860869 C T rs192622540 SEC14L3 Nonsynonymous SNV G201D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 250450 chr10 7759622 7759622 G A rs779191283 ITIH2 Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.585 250451 chr22 30951036 30951036 G A rs200925610 GAL3ST1 Synonymous SNV R392R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.896 250452 chr22 31266669 31266669 C T rs200957023 OSBP2 Synonymous SNV N3N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.68 250453 chr12 40631873 40631873 G C rs199807643 LRRK2 Nonsynonymous SNV G180A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 250454 chr12 9001508 9001508 C T rs200503836 A2ML1 Nonsynonymous SNV R185W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23 250455 chr10 90353815 90353815 T A LIPJ Nonsynonymous SNV D81E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 250456 chr19 50086504 50086504 C T rs748490840 PRRG2 Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.967 250457 chr1 225453069 225453069 C T rs755940682 DNAH14 Nonsynonymous SNV R2470W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 250458 chr10 97023769 97023769 C T rs377056135 PDLIM1 Nonsynonymous SNV A129T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 250459 chr13 100962130 100962130 T C rs370549437 PCCA Nonsynonymous SNV M392T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 250460 chr19 5131473 5131473 A G rs764760814 KDM4B Nonsynonymous SNV M568V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.578 250461 chr15 41099843 41099843 G C rs201109162 ZFYVE19 Nonsynonymous SNV R19T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.711 250462 chr22 42609465 42609465 C T rs372882393 TCF20 Nonsynonymous SNV R616Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 250463 chr12 52774930 52774930 G A rs568031868 KRT84 Synonymous SNV N379N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 250464 chr13 113728825 113728825 C T rs555485471 MCF2L Nonsynonymous SNV A317V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 250465 chr22 32302466 32302466 C T rs766418499 DEPDC5 Nonsynonymous SNV H1499Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.7 250466 chr19 53117236 53117236 T G rs144975187 ZNF83 Nonsynonymous SNV Q194H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.316 250467 chr22 38038513 38038513 G A rs199799729 LOC101927051 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.612 250468 chr22 42114192 42114192 C T MEI1 Nonsynonymous SNV S216L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.34 250469 chr11 110035373 110035373 A G rs748852086 ZC3H12C Synonymous SNV L521L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.641 250470 chr12 56718182 56718182 A G rs770200553 PAN2 Synonymous SNV N608N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.07 250471 chr15 65425538 65425538 G A rs890531545 PDCD7 Synonymous SNV A194A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.931 250472 chr12 58124360 58124360 G C rs148450672 AGAP2 Synonymous SNV P782P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.675 250473 chr12 68647065 68647065 C T IL22 Nonsynonymous SNV R55H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 250474 chr13 50204594 50204594 T A rs201791650 ARL11 Nonsynonymous SNV V4E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 250475 chr15 78393851 78393851 A G rs748804919 SH2D7 Nonsynonymous SNV Y419C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 250476 chr11 124517301 124517301 T G rs757586703 SIAE Nonsynonymous SNV Q309P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 250477 chr19 47884093 47884093 G T rs138459267 DHX34 Synonymous SNV R1001R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.96 250478 chr14 103410425 103410425 T C rs141912208 CDC42BPB Nonsynonymous SNV Q1404R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.084 250479 chr11 128634713 128634713 C T rs532013590 FLI1 Nonsynonymous SNV A10V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 250480 chr14 104643758 104643758 G A KIF26A Nonsynonymous SNV G1545R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 250481 chr15 86311308 86311308 C T rs761827840 KLHL25 Synonymous SNV T578T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 250482 chr15 89402267 89402267 G A rs143156437 ACAN Nonsynonymous SNV G2151S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 250483 chr19 49496303 49496303 C T rs755528744 GYS1 Nonsynonymous SNV D23N 0 0 0 1 0 0 0.003 0 0 0 0 0 25 250484 chr12 109604793 109604793 G A rs146179662 ACACB Nonsynonymous SNV E261K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 250485 chr14 105959024 105959024 C T rs372232345 TEDC1 Nonsynonymous SNV R180C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 27.2 250486 chr2 15493744 15493744 G A rs759328164 NBAS Nonsynonymous SNV A1341V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 250487 chr12 111800782 111800782 C T rs772166451 PHETA1 Synonymous SNV P150P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.43 250488 chr12 112669319 112669319 T C HECTD4 Synonymous SNV A2076A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.624 250489 chr11 1888141 1888141 G A LSP1 Nonsynonymous SNV R146K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.363 250490 chr14 20823012 20823014 AAG - rs1014294597 PARP2 K271del 0 0 0 1 0 0 0.003 0 0 0 0 0 250491 chr19 7676612 7676612 T C rs200997585 CAMSAP3 Synonymous SNV F411F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.036 250492 chr14 20897245 20897245 A G KLHL33 Synonymous SNV H455H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 250493 chr15 99486219 99486219 C T rs147952910 IGF1R Synonymous SNV P1175P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 250494 chr11 34189512 34189512 C T rs139973706 ABTB2 Nonsynonymous SNV A531T 0 0 0.007 0 0 0 0 2 0 0 0 0 25.3 250495 chr11 36422743 36422743 G A rs532779202 PRR5L Synonymous SNV P24P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 250496 chr11 36595286 36595286 G A RAG1 Synonymous SNV K144K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.622 250497 chr16 815781 815781 G A rs145858389 MSLN Nonsynonymous SNV E296K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.93 250498 chr18 21333720 21333720 G A rs62093355 LAMA3 Synonymous SNV G297G 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 9.753 250499 chr18 21427556 21427556 G A rs34799994 LAMA3 Nonsynonymous SNV E1354K 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 20.7 250500 chr16 2305630 2305630 T G rs763900628 RNPS1 Synonymous SNV P235P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.391 250501 chr13 42795507 42795507 C T rs146220534 DGKH Nonsynonymous SNV H1048Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 250502 chr13 53039437 53039437 C T rs147773280 CKAP2 Nonsynonymous SNV P439L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 250503 chr16 11861387 11861387 A G ZC3H7A Nonsynonymous SNV C470R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 250504 chr16 11935849 11935849 C G rs373615839 RSL1D1 Nonsynonymous SNV R215P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 250505 chr13 79190500 79190500 A C OBI1 Nonsynonymous SNV F466V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 250506 chr14 77492255 77492255 G A rs142866521 IRF2BPL Synonymous SNV L627L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.826 250507 chr16 20360056 20360056 G C UMOD Stop gain Y189X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 250508 chr16 22182165 22182165 C T SDR42E2 Nonsynonymous SNV R340W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 250509 chr2 203972696 203972696 C T rs745854018 NBEAL1 Synonymous SNV P549P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.46 250510 chr16 23497406 23497406 T C rs751100341 GGA2 Nonsynonymous SNV K243R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 250511 chr13 103397861 103397861 G A rs553468665 CCDC168 Nonsynonymous SNV P1729L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.173 250512 chr13 109793139 109793139 G A MYO16 Nonsynonymous SNV A1527T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 250513 chr16 31123458 31123458 C T rs759040301 BCKDK Nonsynonymous SNV P371S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 250514 chr2 219507780 219507780 G C rs768106776 ZNF142 Nonsynonymous SNV H1153Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 250515 chr16 57760040 57760040 C T rs199828087 DRC7 Nonsynonymous SNV R542C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 250516 chr1 15656085 15656085 G A rs528819440 FHAD1-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.938 250517 chr2 228560795 228560795 C T rs764278369 SLC19A3 Nonsynonymous SNV A328T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 250518 chr16 67221160 67221160 G A rs28503242 EXOC3L1 Synonymous SNV A336A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.791 250519 chr16 67319361 67319361 C T rs376453451 PLEKHG4 Synonymous SNV F707F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.73 250520 chr16 67698929 67698929 C T rs114429940 ENKD1 Synonymous SNV K141K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.72 250521 chr16 67709850 67709850 G A rs146152087 GFOD2 Synonymous SNV N122N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.723 250522 chr16 67765426 67765426 T C rs143305413 RANBP10 Nonsynonymous SNV M163V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.491 250523 chr20 34828250 34828250 C G rs34390439 AAR2 Nonsynonymous SNV Q154E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 250524 chr16 67860371 67860371 G C rs200583228 TSNAXIP1 Nonsynonymous SNV R90P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 250525 chr2 242021710 242021710 G A rs577568792 SNED1 Nonsynonymous SNV R1351H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.854 250526 chr16 69189866 69189866 T C rs149792921 UTP4 Synonymous SNV N336N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.409 250527 chr16 69385519 69385519 G C rs138135925 TMED6 Nonsynonymous SNV I46M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 250528 chr16 69922032 69922032 C T rs78426175 WWP2 Nonsynonymous SNV P149L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.42 250529 chr2 27353480 27353480 G A rs147790643 ABHD1 Synonymous SNV L362L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.137 250530 chr2 27445144 27445144 T G rs138979522 CAD Synonymous SNV P145P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 8.653 250531 chr2 27448778 27448778 A G CAD Nonsynonymous SNV Y609C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.5 250532 chr15 42979456 42979456 T G rs76594962 STARD9 Nonsynonymous SNV C1894G 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.001 250533 chr15 42979733 42979733 G A rs115067542 STARD9 Nonsynonymous SNV R1986H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.391 250534 chr11 63258412 63258412 G C PLAAT5 Nonsynonymous SNV T32S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.046 250535 chr16 75269114 75269114 G A rs372888788 BCAR1 Synonymous SNV A351A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.039 250536 chr15 42985398 42985398 C T rs61746531 STARD9 Synonymous SNV S3874S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 8.529 250537 chr15 43020992 43020992 C G rs150657573 CDAN1 Nonsynonymous SNV D888H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.7 250538 chr15 43021523 43021523 G A rs114208791 CDAN1 Synonymous SNV G815G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.509 250539 chr15 43023162 43023162 G A rs61742992 CDAN1 Synonymous SNV T656T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 12.79 250540 chr11 63885621 63885621 C T rs369537394 FLRT1 Nonsynonymous SNV R628C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 250541 chr15 43038059 43038059 G A rs74398902 TTBK2 Synonymous SNV H1223H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 2.884 250542 chr15 43317108 43317108 G A rs760496286 UBR1 Synonymous SNV I886I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.53 250543 chr15 43720253 43720253 A G rs2230447 TP53BP1 Synonymous SNV Y1263Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.612 250544 chr15 43822341 43822341 A G rs146483216 MAP1A Synonymous SNV Q2777Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.12 250545 chr11 64525951 64525951 C T PYGM Nonsynonymous SNV E128K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 250546 chr11 65349496 65349496 C T rs745898424 EHBP1L1 Synonymous SNV C451C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 250547 chr15 51250706 51250706 C G rs78870657 AP4E1 Synonymous SNV S447S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 12.62 250548 chr14 64443306 64443306 A G rs201176149 SYNE2 Nonsynonymous SNV N385S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.48 250549 chr2 55277427 55277427 G T RTN4 Nonsynonymous SNV L4M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.304 250550 chr16 88764018 88764018 G A rs147327212 RNF166 Synonymous SNV A143A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 250551 chr16 88804765 88804765 T C rs114403731 PIEZO1 Nonsynonymous SNV I240V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.44 250552 chr16 88871253 88871253 G A rs3218731 CDT1 Synonymous SNV Q145Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.075 250553 chr16 88873780 88873780 A C rs3218729 CDT1 Nonsynonymous SNV E456A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 250554 chr16 88874655 88874655 C T rs3218721 CDT1 Nonsynonymous SNV A537V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.642 250555 chr16 88932905 88932905 T C rs199511105 PABPN1L Nonsynonymous SNV K37R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.632 250556 chr11 72005074 72005074 T G rs779976853 CLPB Nonsynonymous SNV K564Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 250557 chr11 73074293 73074293 C T rs200872476 ARHGEF17 Nonsynonymous SNV T1680I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 250558 chr1 186270783 186270783 G A rs767559777 PRG4 Nonsynonymous SNV D46N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.7 250559 chr14 77857411 77857411 A G rs746849584 SAMD15 Nonsynonymous SNV I617V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 250560 chr11 74414480 74414480 G A rs780156644 CHRDL2 Synonymous SNV F207F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 250561 chr2 55195349 55195349 C T EML6 Synonymous SNV L1895L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.71 250562 chr14 90756617 90756617 C T rs747482883 NRDE2 Nonsynonymous SNV G726D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 250563 chr2 55920837 55920837 C G rs140796438 PNPT1 Nonsynonymous SNV S41T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 3.902 250564 chr15 78819755 78819755 C T rs761538363 HYKK Nonsynonymous SNV R171W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 250565 chr14 92537342 92537342 C T rs768632002 ATXN3 Nonsynonymous SNV R27K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 250566 chr2 62066588 62066588 C A FAM161A Synonymous SNV T517T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.13 250567 chr11 836440 836440 C T rs548885427 CD151 Synonymous SNV L92L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.582 250568 chr15 84651866 84651866 G A rs111258897 ADAMTSL3 Synonymous SNV S1162S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.869 250569 chr15 85147258 85147258 A C rs369807520 ZSCAN2 Nonsynonymous SNV I34L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.72 250570 chr15 85411581 85411581 C T rs36002219 ALPK3 Nonsynonymous SNV A1671V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 11.21 250571 chr17 4575439 4575439 C A PELP1 Nonsynonymous SNV E949D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 250572 chr17 4578645 4578645 C G rs548052628 PELP1 Nonsynonymous SNV D361H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 250573 chr21 45671076 45671076 C A DNMT3L-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.438 250574 chr21 45949741 45949741 G A rs372173836 TSPEAR Nonsynonymous SNV R244W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 250575 chr11 95657103 95657103 T A rs377006678 MTMR2 Nonsynonymous SNV S6C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 250576 chr1 204214762 204214762 C T rs372758219 PLEKHA6 Synonymous SNV T671T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.98 250577 chr21 46308638 46308638 G A rs147238010 ITGB2 Nonsynonymous SNV R684C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.8 250578 chr1 20501575 20501575 G A rs374293732 PLA2G2C Nonsynonymous SNV A35V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 250579 chr3 111981888 111981888 A G rs143138818 SLC9C1 Synonymous SNV S312S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 9.089 250580 chr21 46876032 46876032 C G rs199717521 COL18A1 Synonymous SNV P196P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.992 250581 chr15 90245215 90245215 G A rs28727970 WDR93 Nonsynonymous SNV A80T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.145 250582 chr12 101442138 101442138 A G rs541493742 ANO4 Nonsynonymous SNV N424S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 250583 chr12 101723088 101723088 G A rs142628447 UTP20 Nonsynonymous SNV R1093H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 250584 chr15 91347407 91347407 T C BLM Nonsynonymous SNV M1190T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.25 250585 chr12 108912304 108912304 C T rs34353718 FICD Synonymous SNV L143L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.39 250586 chr12 108931932 108931932 G A rs34601661 SART3 Synonymous SNV R370R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.02 250587 chr12 108985707 108985707 A G rs7972096 TMEM119 Synonymous SNV S151S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.895 250588 chr12 109017442 109017471 AGTGGTCTGTGCTTCCATGGCTGCTGGTGC - rs751551658 SELPLG A221_T230del 0 0 0.003 0 0 0 0 1 0 0 0 0 250589 chr3 119459418 119459418 G A rs199894922 MAATS1 Nonsynonymous SNV R393Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 250590 chr12 109703305 109703305 G A rs144520667 ACACB Nonsynonymous SNV D2409N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 250591 chr3 121415769 121415769 C T GOLGB1 Nonsynonymous SNV E1121K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 250592 chr12 110383115 110383115 G C GIT2 Nonsynonymous SNV P510A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 250593 chr12 112844614 112844614 T G rs143273976 RPL6 Nonsynonymous SNV K139N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 13.69 250594 chr16 1263805 1263805 C T rs559982155 CACNA1H Synonymous SNV A1595A 0 0 0 2 0 0 0.005 0 0 0 0 0 16.01 250595 chr3 122645440 122645440 C T rs184302192 SEMA5B Nonsynonymous SNV R254H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 34 250596 chr12 118582582 118582582 C T rs370182002 PEBP1 Synonymous SNV L180L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.22 250597 chr12 119568494 119568494 G T SRRM4 Nonsynonymous SNV R209L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 250598 chr17 10440803 10440803 G A MYH2 Synonymous SNV D548D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.82 250599 chr17 11778431 11778431 C T DNAH9 Synonymous SNV L3470L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.1 250600 chr16 1705919 1705919 C T rs377278919 CRAMP1 Synonymous SNV S387S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.103 250601 chr12 124343736 124343736 C T rs376402035 DNAH10 Nonsynonymous SNV R2106C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 250602 chr12 125292453 125292453 T G SCARB1 Nonsynonymous SNV K288T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 250603 chr17 19645919 19645919 G A rs755608749 ALDH3A1 Nonsynonymous SNV S140L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250604 chr12 13154570 13154570 - C rs949253731 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 250605 chr16 2094740 2094740 G A rs756597137 NTHL1 Nonsynonymous SNV T29M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 250606 chr12 13238025 13238025 C T rs545591892 GSG1 Nonsynonymous SNV R213Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.741 250607 chr16 21968754 21968754 A G UQCRC2 Nonsynonymous SNV N45S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.73 250608 chr16 23456465 23456465 T G COG7 Nonsynonymous SNV Q113H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 250609 chr16 23711931 23711931 C A rs138973317 ERN2 Nonsynonymous SNV G433V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.837 250610 chr16 24920356 24920356 C T rs113296816 SLC5A11 Nonsynonymous SNV T460M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.17 250611 chr3 13670545 13670545 G T rs556004379 FBLN2 Nonsynonymous SNV V857L 0.003 0.005 0 0 3 2 0 0 0 0 0 0 29 250612 chr16 27375107 27375107 G A rs778603251 IL4R Nonsynonymous SNV V812M 0 0 0 1 0 0 0.003 0 0 0 0 0 3.329 250613 chr16 27561131 27561131 C A rs142351765 GTF3C1 Synonymous SNV R27R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.29 250614 chr16 27751798 27751798 A T rs139943989 KIAA0556 Nonsynonymous SNV H727L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.43 250615 chr3 141164787 141164787 T C ZBTB38 Nonsynonymous SNV I1186T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 250616 chr12 21176141 21176141 G A rs368745602 SLCO1B7 Nonsynonymous SNV G169E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 250617 chr12 21176220 21176220 G C rs142487269 SLCO1B7 Synonymous SNV L195L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.312 250618 chr3 145795679 145795679 C T rs760182639 PLOD2 Synonymous SNV P511P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.38 250619 chr16 30017583 30017583 G A rs34246709 DOC2A Nonsynonymous SNV P376L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.343 250620 chr17 33510511 33510511 G A UNC45B Synonymous SNV E734E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.631 250621 chr16 30594496 30594496 G C rs116446996 ZNF785 Synonymous SNV S201S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.801 250622 chr16 30596844 30596844 C G ZNF785 Nonsynonymous SNV S30T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.69 250623 chr3 149468532 149468532 G A rs200644162 COMMD2 Nonsynonymous SNV T112M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 250624 chr17 35545404 35545404 C T ACACA Nonsynonymous SNV R1435Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 250625 chr16 31477811 31477811 C T rs369927668 ARMC5 Synonymous SNV V803V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 250626 chr12 33031180 33031180 G A rs766379716 PKP2 Nonsynonymous SNV R212C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.5 250627 chr12 39726761 39726761 T A rs747977668 KIF21A Nonsynonymous SNV Q843L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 250628 chr3 160000299 160000299 G A rs369779153 IFT80 Stop gain R358X 0.003 0.005 0 0 3 2 0 0 0 0 0 0 41 250629 chr17 38073390 38073390 G T rs150941805 GSDMB Nonsynonymous SNV D60E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 250630 chr17 38560449 38560449 T C rs754251319 TOP2A Synonymous SNV Q746Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.63 250631 chr17 38936588 38936588 A G KRT27 Synonymous SNV S216S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.881 250632 chr3 140282952 140282952 G A CLSTN2 Nonsynonymous SNV D878N 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22.8 250633 chr12 48104665 48104665 G A rs201391618 ENDOU Nonsynonymous SNV R322W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 250634 chr16 47727405 47727405 A T rs371541668 PHKB Nonsynonymous SNV K961M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.9 250635 chr12 48962982 48962982 - T rs771488350 LALBA Frameshift insertion A59Sfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 250636 chr16 48390620 48390620 T C rs1054948652 LONP2 Nonsynonymous SNV M867T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.494 250637 chr3 176769391 176769391 C G TBL1XR1 Nonsynonymous SNV A23P 0.003 0.005 0 0 3 2 0 0 0 0 0 0 14.68 250638 chr16 52473411 52473411 A T rs905036216 TOX3 Nonsynonymous SNV M486K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 250639 chr17 39394660 39394660 G C rs753404081 KRTAP9-8 Nonsynonymous SNV Q119H 0.001 0 0 0 1 0 0 0 0 0 0 0 21 250640 chr17 39406329 39406329 G C KRTAP9-4 Nonsynonymous SNV Q119H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 250641 chr3 158261981 158261981 G A rs140479858 RSRC1 Nonsynonymous SNV E250K 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 34 250642 chr16 57250928 57250928 G T RSPRY1 Nonsynonymous SNV Q294H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 250643 chr3 158970516 158970516 T G rs147630966 IQCJ, IQCJ-SCHIP1 Nonsynonymous SNV N25K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 250644 chr15 83428158 83428158 G A rs567939519 FSD2 Nonsynonymous SNV P686L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.3 250645 chr17 39988691 39988691 G T rs138949240 NT5C3B Synonymous SNV I89I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.41 250646 chr3 172232780 172232780 G T rs16845759 TNFSF10 Nonsynonymous SNV D47E 0 0.003 0 3 0 1 0.008 0 0 0 0 0 0.299 250647 chr17 41365199 41365199 C A rs147796920 TMEM106A Nonsynonymous SNV P47T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 250648 chr15 89849413 89849413 C A rs114810692 FANCI Synonymous SNV A1115A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.37 250649 chr17 42170155 42170155 A G rs567769945 HDAC5 Synonymous SNV L222L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.691 250650 chr12 56233375 56233375 C T rs143467015 MMP19 Nonsynonymous SNV R224Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 250651 chr12 56717137 56717137 C T rs202247521 PAN2 Nonsynonymous SNV G772D 0 0 0.007 0 0 0 0 2 0 0 0 0 20.6 250652 chr3 33093485 33093485 T C rs777079631 GLB1 Synonymous SNV E137E 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 11.24 250653 chr3 38049548 38049548 G C rs985108155 PLCD1 Nonsynonymous SNV D735E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 250654 chr3 38151670 38151670 G C rs368500201 DLEC1 Nonsynonymous SNV R1117P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 28 250655 chr12 65445190 65445190 G A rs201508016 WIF1 Nonsynonymous SNV T360M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 250656 chr17 56284555 56284555 G A rs755841031 MKS1 Nonsynonymous SNV T230M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 250657 chr12 6690266 6690266 A G rs756243539 CHD4 Nonsynonymous SNV V1611A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 250658 chr16 81129869 81129869 C G GCSH Synonymous SNV V5V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 250659 chr12 7526232 7526232 G A rs368402880 CD163L1 Synonymous SNV F1148F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 250660 chrX 107170187 107170187 C T rs1031363231 MID2 Synonymous SNV L698L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.011 250661 chr19 5914469 5914469 C T rs749937081 CAPS Nonsynonymous SNV R18C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.4 250662 chr12 78592405 78592405 T C NAV3 Nonsynonymous SNV M2134T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 250663 chr12 78604293 78604293 T C rs202141197 NAV3 Nonsynonymous SNV L2363P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 250664 chr3 28365619 28365619 T A rs201609649 AZI2 Nonsynonymous SNV T365S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.829 250665 chr3 44905727 44905727 G A TMEM42 Nonsynonymous SNV M77I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 250666 chr17 67082866 67082866 A C ABCA6 Nonsynonymous SNV I1277R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 250667 chr17 72436059 72436059 G A rs767530166 GPRC5C Synonymous SNV A48A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.355 250668 chr3 49153016 49153016 G A rs369802491 USP19 Synonymous SNV S467S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 6.78 250669 chr17 73235467 73235467 G A rs146451191 GGA3 Nonsynonymous SNV S468L 0.002 0 0 0 2 0 0 0 0 0 0 0 35 250670 chr5 139228078 139228078 T C rs185375193 NRG2 Synonymous SNV G593G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 250671 chr13 100623633 100623633 C A rs545605629 ZIC5 Synonymous SNV A99A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 250672 chr3 50381237 50381237 C T rs767736273 ZMYND10 Synonymous SNV K82K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.52 250673 chr13 103402638 103402638 A G rs183325459 CCDC168 Nonsynonymous SNV W137R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.962 250674 chr13 110827592 110827592 T C COL4A1 Nonsynonymous SNV I1057M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 250675 chr1 1132926 1132926 C T rs955973593 TTLL10 Nonsynonymous SNV P574L 0 0 0 5 0 0 0.013 0 0 0 0 0 8.618 250676 chr17 74383625 74383625 C A SPHK1 Nonsynonymous SNV S371R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 250677 chr16 19514806 19514806 C T rs34137361 GDE1 Nonsynonymous SNV E297K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 250678 chr1 74492559 74492559 T G rs773139355 LRRIQ3 Nonsynonymous SNV T605P 0.003 0 0 0 3 0 0 0 0 0 0 0 12.17 250679 chr1 74507423 74507423 T C rs17094779 LRRIQ3 Nonsynonymous SNV I398V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.002 250680 chr16 22268146 22268146 C T rs764213188 EEF2K Synonymous SNV I232I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 250681 chr17 17698206 17698206 C T rs750279070 RAI1 Synonymous SNV A648A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.679 250682 chr17 78269571 78269571 A C RNF213 Nonsynonymous SNV E657A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 250683 chr19 9084489 9084489 A G rs775539334 MUC16 Synonymous SNV N2442N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 250684 chr17 78360595 78360595 G A rs773954576 RNF213 Synonymous SNV E4942E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 250685 chr3 97669728 97669728 A G rs778859632 RIOX2 Nonsynonymous SNV W264R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.6 250686 chr3 98072818 98072818 G T OR5K4 Nonsynonymous SNV G41W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 250687 chr16 30034990 30034990 C T rs192016794 C16orf92 Stop gain R25X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 250688 chr1 100327153 100327153 A G AGL Synonymous SNV R59R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.055 250689 chr1 110527690 110527690 G T rs778606933 AHCYL1 Nonsynonymous SNV A6S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21 250690 chr13 95768241 95768241 G A rs199702034 ABCC4 Nonsynonymous SNV R777C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 250691 chr17 27085903 27085903 G A rs772532734 FAM222B Synonymous SNV S358S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.675 250692 chr4 114294536 114294536 C T rs45517840 ANK2 Synonymous SNV I1021I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 21.1 250693 chr1 114128124 114128124 G A rs35955172 MAGI3 Synonymous SNV T223T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 13.81 250694 chr1 114226153 114226153 C T rs61742852 MAGI3 Synonymous SNV G1321G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Benign 9.616 250695 chr14 101510613 101510613 G A rs11844707 MIR1185-2 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 250696 chr1 114267482 114267482 G A rs116732089 PHTF1 Synonymous SNV S174S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.8 250697 chr16 67688790 67688790 G T CARMIL2 Nonsynonymous SNV G1231V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 250698 chr17 33454198 33454198 G T rs147725468 FNDC8 Nonsynonymous SNV G116V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 250699 chr18 19154142 19154142 C T rs140469229 ESCO1 Synonymous SNV T221T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.314 250700 chr17 3480471 3480471 G C rs751335667 TRPV1 Nonsynonymous SNV L577V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 250701 chr14 105395256 105395256 C G rs201959593 PLD4 Nonsynonymous SNV S159W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.2 250702 chr18 28577016 28577016 T C rs145045316 DSC3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 250703 chr16 72830384 72830384 G A rs754624764 ZFHX3 Nonsynonymous SNV A1152V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 250704 chr17 36490972 36490972 C T rs371905233 GPR179 Nonsynonymous SNV S530N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 10.74 250705 chr17 36623411 36623411 C T rs970174099 ARHGAP23 Nonsynonymous SNV P496L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 250706 chr16 75512694 75512694 C T rs528292322 CHST6 Nonsynonymous SNV V345M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 250707 chr18 31187603 31187603 T C ASXL3 Synonymous SNV L34L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.387 250708 chr20 18470623 18470623 G A rs145407527 RBBP9 Nonsynonymous SNV R116C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250709 chr17 37343766 37343766 G T rs756466042 CACNB1 Nonsynonymous SNV T127N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 15.74 250710 chr16 78466584 78466584 A T rs999552633 WWOX Nonsynonymous SNV I218F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.419 250711 chr18 43311038 43311038 G A SLC14A1 Synonymous SNV V126V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 250712 chr14 21868646 21868646 T G CHD8 Nonsynonymous SNV N1499T 0 0 0.007 0 0 0 0 2 0 0 0 0 23 250713 chr17 39032654 39032654 C A rs758535549 KRT20 Nonsynonymous SNV V412F 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24.2 250714 chr14 23312940 23312940 C A rs764286622 MMP14 Nonsynonymous SNV T291N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 250715 chr1 26603134 26603134 C T rs765352554 CEP85 Nonsynonymous SNV L103F 0 0 0 3 0 0 0.008 0 0 0 0 0 8.293 250716 chr1 151156885 151156885 C T rs773423049 VPS72 Nonsynonymous SNV R157Q 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 25.8 250717 chr14 24802144 24802144 G A rs373646083 ADCY4 Synonymous SNV G70G 0 0 0.003 0 0 0 0 1 0 0 0 0 24 250718 chr4 175899091 175899091 A T rs199709256 ADAM29 Nonsynonymous SNV Q805H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.211 250719 chr1 152128018 152128018 C G rs749927255 RPTN Nonsynonymous SNV Q519H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 14.5 250720 chr18 56205096 56205096 A G rs146152799 ALPK2 Nonsynonymous SNV S775P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 250721 chr20 31890203 31890203 G A rs774641798 BPIFB1 Synonymous SNV G322G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.286 250722 chr20 33334653 33334653 T C rs750103639 NCOA6 Nonsynonymous SNV N958D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 250723 chr16 87743247 87743247 G T rs144095618 KLHDC4 Synonymous SNV R300R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.604 250724 chr16 88496175 88496175 G A rs144492145 ZNF469 Nonsynonymous SNV R766Q 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.115 250725 chr4 185606793 185606793 G A rs138103333 PRIMPOL Nonsynonymous SNV R333Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 250726 chr14 37641765 37641765 G T rs45449092 SLC25A21-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.861 250727 chr16 88599208 88599208 A G ZFPM1 Nonsynonymous SNV S352G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.76 250728 chr14 45481187 45481187 A G rs761767787 TOGARAM1 Nonsynonymous SNV I1049M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 250729 chr16 88747898 88747898 C T rs150415240 SNAI3 Nonsynonymous SNV A101T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 250730 chr16 88947745 88947745 C T rs201612351 CBFA2T3 Synonymous SNV A366A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 250731 chr20 39832800 39832800 C T rs368477337 ZHX3 Nonsynonymous SNV A253T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.107 250732 chr17 42457993 42457993 C T rs375195998 ITGA2B Nonsynonymous SNV G472R 0 0.008 0 1 0 3 0.003 0 0 0 0 0 26.7 250733 chr16 89758866 89758866 A C rs558859177 CDK10 Nonsynonymous SNV I72L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 250734 chr14 57052477 57052477 A G TMEM260 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 250735 chr17 650570 650570 C T rs375583565 GEMIN4 Nonsynonymous SNV C238Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 250736 chr17 1198917 1198917 G A rs757527314 TRARG1 Nonsynonymous SNV V174I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.72 250737 chr4 3495158 3495158 C A DOK7 Nonsynonymous SNV A172E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 14.68 250738 chr17 45892693 45892693 C T rs773617002 OSBPL7 Nonsynonymous SNV R382H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 250739 chr14 68758628 68758628 C G rs376183330 RAD51B Nonsynonymous SNV H262D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 250740 chr14 70170305 70170305 C A SUSD6 Nonsynonymous SNV N105K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.64 250741 chr14 70234336 70234336 G A rs78313839 LOC100289511 0 0 0.003 0 0 0 0 1 0 0 0 0 3.068 250742 chr14 72171948 72171948 G T rs756249981 SIPA1L1 Nonsynonymous SNV C1219F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 250743 chr1 53676980 53676980 A C rs17848485 CPT2 Nonsynonymous SNV E545A 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 250744 chr14 75276106 75276106 C G rs112597398 YLPM1 Synonymous SNV P1515P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.85 250745 chr4 5754671 5754671 G C EVC Nonsynonymous SNV G403R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.86 250746 chr4 5990115 5990115 C T rs377181553 C4orf50 Nonsynonymous SNV A1041T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 9.028 250747 chr17 5421188 5421188 C T rs765377790 NLRP1 Nonsynonymous SNV R1238Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 250748 chr14 81528523 81528523 C T rs142063461 TSHR Nonsynonymous SNV P68S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24 250749 chr1 173616118 173616118 A - ANKRD45 R122Vfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 250750 chr20 62595519 62595519 T G ZNF512B Nonsynonymous SNV E462A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 250751 chr4 77700071 77700071 A G rs749382171 SHROOM3 Nonsynonymous SNV N1911S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.059 250752 chr1 85725081 85725084 TGTT - rs778112933 C1orf52 K78Rfs*2 0 0 0 2 0 0 0.005 0 0 0 0 0 250753 chr15 101593579 101593579 C T rs772075108 LRRK1 Synonymous SNV L1336L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.1 250754 chr17 68128300 68128300 C T KCNJ16 Synonymous SNV H59H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.464 250755 chr15 25430672 25430672 G A rs547186789 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.321 250756 chr15 34134195 34134195 A G rs142108245 RYR3 Nonsynonymous SNV N4385D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.01 250757 chr19 8326949 8326949 C T rs777261835 CERS4 Nonsynonymous SNV R381W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 250758 chr1 19478158 19478158 C T rs55848569 UBR4 Nonsynonymous SNV D2398N 0 0 0 2 0 0 0.005 0 0 0 0 0 32 250759 chr1 19553823 19553823 C T EMC1 Nonsynonymous SNV R707H 0 0 0 2 0 0 0.005 0 0 0 0 0 35 250760 chr1 100606564 100606564 A C rs765141854 TRMT13 Nonsynonymous SNV T220P 0 0 0 2 0 0 0.005 0 0 0 0 0 25 250761 chr15 40662410 40662410 G A rs370474908 DISP2 Nonsynonymous SNV R1366Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 250762 chr15 41518773 41518773 T A EXD1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 250763 chr4 983130 983130 G T rs143915071 SLC26A1 Nonsynonymous SNV P533T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.189 250764 chr4 985465 985465 C G rs150233366 SLC26A1 Nonsynonymous SNV Q9H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.242 250765 chr15 44055384 44055384 C T rs145283989 PDIA3 Synonymous SNV N194N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 250766 chr1 110950295 110950295 C A rs147214807 LAMTOR5 Nonsynonymous SNV G65V 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 13.93 250767 chr15 45394046 45394046 G A rs141644475 DUOX2 Synonymous SNV D932D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.609 250768 chr15 45394048 45394048 C T rs147047438 DUOX2 Nonsynonymous SNV D932N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 250769 chr15 45394049 45394049 A G rs138306055 DUOX2 Synonymous SNV H931H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.997 250770 chr19 9069050 9069050 G A MUC16 Synonymous SNV D6132D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.703 250771 chr15 55710672 55710672 T C C15orf65 Synonymous SNV H90H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 250772 chr15 55790477 55790477 G A rs757474659 DNAAF4 Synonymous SNV V17V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 250773 chr1 120277945 120277945 A G PHGDH Nonsynonymous SNV Q224R 0 0 0 3 0 0 0.008 0 0 0 0 0 15.92 250774 chr17 76457626 76457626 C A rs781490851 DNAH17 Nonsynonymous SNV K3113N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.93 250775 chr15 59911603 59911603 - T rs769042934 GCNT3 Frameshift insertion I390Yfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 250776 chr17 36508662 36508662 - AGCAGC rs547838143 SOCS7 Q251_P252insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 250777 chr1 150128275 150128275 A T rs781863904 PLEKHO1 Nonsynonymous SNV N65Y 0 0 0 3 0 0 0.008 0 0 0 0 0 25.8 250778 chr19 10220494 10220494 C T rs746277045 SNORD105B 0.001 0 0 0 1 0 0 0 0 0 0 0 9.424 250779 chr15 65152191 65152191 C T rs761115067 PLEKHO2 Synonymous SNV F76F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 250780 chr19 10600042 10600042 C T rs148641376 KEAP1 Nonsynonymous SNV V512I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 250781 chr19 11097235 11097235 C T rs578260605 SMARCA4 Synonymous SNV P242P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.917 250782 chr22 18121595 18121595 C G rs189051470 BCL2L13 Nonsynonymous SNV R46G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.908 250783 chr17 78165123 78165123 C T rs141698692 CARD14 Nonsynonymous SNV A127V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 28.2 250784 chr17 78326937 78326937 G C rs1009897229 RNF213-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.22 250785 chr19 11568932 11568932 G A rs375398140 ELAVL3 Synonymous SNV Y219Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.084 250786 chr22 19471407 19471407 A G rs149459036 CDC45 Nonsynonymous SNV D76G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23 250787 chr22 19898906 19898906 C G rs199510610 TXNRD2 Nonsynonymous SNV G219A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.1 250788 chr15 74420796 74420796 C T rs79925446 LOC283731 0 0 0.01 0 0 0 0 3 0 0 0 0 17.76 250789 chr15 74963884 74963884 C T rs200931517 EDC3 Synonymous SNV P132P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 250790 chr19 14910410 14910410 T A OR7C1 Nonsynonymous SNV D180V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 250791 chr17 80049347 80049347 C T rs376821046 FASN Nonsynonymous SNV A415T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.299 250792 chr1 224621757 224621757 - CCG rs746750261 WDR26 G25_Q26insG 0.002 0 0 1 2 0 0.003 0 0 0 0 0 250793 chr15 83932218 83932218 T C rs141284419 BNC1 Synonymous SNV S588S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 250794 chr19 16268239 16268239 G A rs547179739 HSH2D Synonymous SNV S206S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.256 250795 chr1 23232532 23232532 C T rs137975389 EPHB2 Synonymous SNV N548N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.88 250796 chr18 216552 216552 G A rs769645270 THOC1 Synonymous SNV N512N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.833 250797 chr15 90892246 90892246 G C rs61754952 GABARAPL3 0 0 0.003 0 0 0 0 1 0 0 0 0 3.479 250798 chr15 90892412 90892412 C T rs61190836 GABARAPL3 0 0 0.003 0 0 0 0 1 0 0 0 0 7.935 250799 chr18 24436222 24436222 C T rs1046619582 AQP4 Nonsynonymous SNV E282K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 250800 chr18 24436230 24436230 C T rs577742718 AQP4 Nonsynonymous SNV R279Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 250801 chr16 110481 110481 C T rs528865754 RHBDF1 Synonymous SNV A538A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 250802 chr1 24393550 24393550 C G MYOM3 Nonsynonymous SNV W1128C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.9 250803 chr16 1536197 1536197 C T rs755605970 PTX4 Nonsynonymous SNV E389K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 250804 chr18 44660920 44660920 T C HDHD2 Nonsynonymous SNV K86R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 250805 chr17 61568395 61568395 G A rs747159428 ACE Nonsynonymous SNV E334K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 250806 chr18 50918194 50918194 G A rs200708034 DCC Synonymous SNV T875T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.586 250807 chr16 2052356 2052356 G A rs369964206 ZNF598 Nonsynonymous SNV T249M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 250808 chr17 66982355 66982355 G A rs150905357 ABCA9 Synonymous SNV Y1386Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.812 250809 chr16 21033412 21033412 A G rs778465490 DNAH3 Nonsynonymous SNV M1840T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 250810 chr18 61160223 61160223 C T rs770435771 SERPINB5 Synonymous SNV N154N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 250811 chr16 2279580 2279580 G A E4F1 Nonsynonymous SNV A107T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.112 250812 chr18 61654177 61654177 G T rs199920013 SERPINB8 Nonsynonymous SNV V84F 0 0 0 1 0 0 0.003 0 0 0 0 0 25 250813 chr16 24582766 24582766 G A rs143040546 RBBP6 Nonsynonymous SNV R1426H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 250814 chr16 24675168 24675168 A G rs74013289 LINC01567 0 0 0.01 0 0 0 0 3 0 0 0 0 3.375 250815 chr18 65181607 65181607 C T rs374792922 DSEL Nonsynonymous SNV R80H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.06 250816 chr18 6908976 6908976 G A rs116232392 ARHGAP28 Nonsynonymous SNV C524Y 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 Benign 20.1 250817 chr2 106498240 106498240 C T NCK2 Nonsynonymous SNV P228L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 250818 chr18 691231 691231 C G rs377711094 ENOSF1 Nonsynonymous SNV D75H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 250819 chr16 28925680 28925680 - CT RABEP2 Frameshift insertion S257Rfs*65 0 0 0.003 0 0 0 0 1 0 0 0 0 250820 chr1 27609910 27609910 G A rs746581790 WDTC1 Synonymous SNV T87T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.15 250821 chr16 2988207 2988207 C G rs571469602 FLYWCH1 Nonsynonymous SNV F600L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 250822 chr1 27684061 27684061 G T rs748830946 MAP3K6 Nonsynonymous SNV R1022S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.712 250823 chr17 73946915 73946915 T C rs190909019 ACOX1 Nonsynonymous SNV N375S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 250824 chr17 74155621 74155621 C T rs781601742 RNF157 Nonsynonymous SNV V367I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 250825 chr16 31131513 31131513 C T KAT8 Nonsynonymous SNV A73V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 250826 chr16 3533408 3533408 C T NAA60 Nonsynonymous SNV A63V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 250827 chr16 3706745 3706745 C T rs374554105 DNASE1 Nonsynonymous SNV R143W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 250828 chr2 128944290 128944290 A G rs762351628 UGGT1 Nonsynonymous SNV I1465V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 250829 chr5 37125346 37125346 T C rs138495618 CPLANE1 Synonymous SNV P2932P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.572 250830 chr2 135756466 135756466 C T rs147043490 MAP3K19 Nonsynonymous SNV R139Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 250831 chr16 50349415 50349415 G A rs758149111 ADCY7 Synonymous SNV X1081X 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 250832 chr5 476422 476422 G T SLC9A3 Nonsynonymous SNV H645Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.411 250833 chr19 11097098 11097098 C T rs200664441 SMARCA4 Nonsynonymous SNV P197S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 24.9 250834 chr16 52473513 52473515 TGC - rs546327959 TOX3 Q455del 0 0 0.003 0 0 0 0 1 0 0 0 0 250835 chr19 45864832 45864832 G A rs778436682 ERCC2 Nonsynonymous SNV P372L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 250836 chr16 597356 597356 C T rs768148367 CAPN15 Nonsynonymous SNV S173L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 250837 chr5 80169002 80169002 G A rs776035988 MSH3 Synonymous SNV R1066R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.96 250838 chr19 15131436 15131436 C T rs202195475 CCDC105 Nonsynonymous SNV T280M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 250839 chr5 9054313 9054313 C T rs146447120 SEMA5A Nonsynonymous SNV G859S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 21.6 250840 chr16 70697856 70697856 G A rs772453635 MTSS2 Synonymous SNV P656P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.817 250841 chr16 70806339 70806339 G C rs62048011 VAC14-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.815 250842 chr19 15483812 15483812 C T rs368979758 AKAP8 Synonymous SNV G237G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 10.55 250843 chr5 9629567 9629567 G T rs185412063 TAS2R1 Nonsynonymous SNV A193D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 250844 chr16 74725354 74725354 T G rs753217034 MLKL Synonymous SNV P181P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.952 250845 chr16 75579385 75579385 C T rs767681013 TMEM231 Synonymous SNV A202A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.26 250846 chr16 76569549 76569549 C G rs780692129 CNTNAP4 Nonsynonymous SNV Q826E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.455 250847 chr16 81228608 81228608 C G rs375354612 PKD1L2 Synonymous SNV L522L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.452 250848 chr18 29038448 29038448 G A rs138945214 DSG3 Nonsynonymous SNV R86Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 250849 chr19 17448856 17448856 C T rs577197743 GTPBP3 Synonymous SNV G31G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 10.26 250850 chr19 17622492 17622492 C G PGLS Nonsynonymous SNV P4R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 250851 chr2 180815253 180815253 T C rs201120324 CWC22 Nonsynonymous SNV H709R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.789 250852 chr19 19822602 19822602 T C ZNF14 Synonymous SNV T496T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.218 250853 chr1 78325760 78325760 C T rs114142553 MIGA1 Synonymous SNV L408L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.13 250854 chr16 88793254 88793254 G A rs991895210 PIEZO1 Synonymous SNV L1190L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.81 250855 chr19 3494035 3494035 G A rs11551227 DOHH Synonymous SNV P114P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.773 250856 chr19 35085089 35085089 T C rs141214650 SCGB2B2 Synonymous SNV S79S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.141 250857 chr19 35249975 35249975 C T rs61730325 ZNF599 Synonymous SNV S577S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 250858 chr19 35258224 35258224 C T rs74834692 ZNF599 Nonsynonymous SNV A80T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.006 250859 chr19 35424570 35424570 G A rs149521067 ZNF30 Nonsynonymous SNV E68K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.13 250860 chr19 54822819 54822819 C T LILRA5 Nonsynonymous SNV G181R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 250861 chr6 129775394 129775394 C T LAMA2 Nonsynonymous SNV T2223I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 250862 chr19 35836491 35836491 C T rs758780358 MIR5196 0 0 0 1 0 0 0.003 0 0 0 0 0 6.118 250863 chr6 130762064 130762064 C T rs761390006 TMEM200A Nonsynonymous SNV T166I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 250864 chr20 10627742 10627742 C T JAG1 Nonsynonymous SNV S577N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 250865 chr6 136495009 136495009 T C rs73555079 PDE7B Synonymous SNV H262H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 1.133 250866 chr19 36594768 36594768 A C rs761588541 WDR62 Synonymous SNV P1346P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 250867 chr2 27445127 27445127 C A CAD Nonsynonymous SNV Q140K 0 0 0 3 0 0 0.008 0 0 0 0 0 19.69 250868 chr6 151187058 151187069 GGCGGCGGCGGA - MTHFD1L G39_G42del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 250869 chr19 57089190 57089190 C T rs756542332 ZNF470 Nonsynonymous SNV R465C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 250870 chr6 159654775 159654775 C T FNDC1 Synonymous SNV G1077G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 250871 chr19 41081456 41081456 C A SPTBN4 Nonsynonymous SNV A2559D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 250872 chr17 29283411 29283411 T C rs199800075 ADAP2, ADAP2 Synonymous SNV S351S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.613 250873 chr19 3977461 3977461 G A EEF2 Nonsynonymous SNV R739C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 250874 chr19 58596583 58596583 G A rs762322010 ZSCAN18 Synonymous SNV D198D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.546 250875 chr6 161508969 161508969 A G rs771918006 MAP3K4 Nonsynonymous SNV T936A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 250876 chr4 119626949 119626949 T C METTL14 Nonsynonymous SNV F347L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 250877 chr17 3402281 3402281 G A rs141858640 ASPA Nonsynonymous SNV V281M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 250878 chr17 3594942 3594942 G T rs539386358 P2RX5 Nonsynonymous SNV A95D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 250879 chr19 5789506 5789506 C T DUS3L Synonymous SNV P204P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 250880 chr19 5866718 5866718 C T rs139123543 FUT5 Nonsynonymous SNV R340Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 250881 chr17 3664325 3664325 - GTCTTCCTCCTCCTCCTT rs770375864 ITGAE D193_E194insKEEEED 0 0 0.003 0 0 0 0 1 0 0 0 0 250882 chr2 69046285 69046285 T G rs143413666 ARHGAP25 Nonsynonymous SNV M338R 0 0 0 4 0 0 0.01 0 0 0 0 0 23.7 250883 chr17 3806568 3806568 G A rs200190306 P2RX1 Synonymous SNV P225P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.485 250884 chr19 44635286 44635286 G A rs370995668 ZNF225 Synonymous SNV E173E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.828 250885 chr2 71627630 71627630 G A rs35743342 ZNF638 Synonymous SNV E893E 0.001 0 0 4 1 0 0.01 0 0 0 0 0 5.296 250886 chr19 7964821 7964821 G A rs374531923 LRRC8E Nonsynonymous SNV A343T 0.001 0 0 0 1 0 0 0 0 0 0 0 12 250887 chr19 44932484 44932484 A C ZNF229 Stop gain Y818X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 250888 chr19 45494145 45494145 G A rs772411056 CLPTM1 Nonsynonymous SNV R440H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 250889 chr20 19662595 19662595 C G rs748758766 SLC24A3 Nonsynonymous SNV D287E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 250890 chr19 46275970 46275970 C T rs780897613 DMPK Nonsynonymous SNV A336T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 250891 chr20 23065371 23065371 C T rs767372352 CD93 Nonsynonymous SNV G487R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 250892 chr19 47204136 47204136 G A rs78646827 PRKD2 Synonymous SNV S190S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 12.01 250893 chr20 24523990 24523990 G A rs143609255 SYNDIG1 Nonsynonymous SNV R86H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.855 250894 chr19 48543962 48543962 C A rs753886961 CABP5 Synonymous SNV G46G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 20.9 250895 chr17 4428377 4428377 T G rs150893268 SPNS2 Synonymous SNV A154A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.31 250896 chr6 64004909 64004909 G A rs145376798 LGSN Synonymous SNV S24S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.886 250897 chr19 49931883 49931883 T C GFY Synonymous SNV H455H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.47 250898 chr19 9869066 9869066 C G ZNF846 Nonsynonymous SNV K100N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 250899 chr19 10108061 10108061 C T rs140286940 COL5A3 Nonsynonymous SNV D417N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 250900 chr19 50862806 50862806 C T rs143284959 NAPSA Nonsynonymous SNV R297Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.09 250901 chr6 75797325 75797325 G T COL12A1 Nonsynonymous SNV A1886D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 250902 chr2 55119682 55119682 A G rs375432919 EML6 Synonymous SNV L877L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.886 250903 chr20 44650308 44650308 G A rs561211237 SLC12A5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.07 250904 chr6 90039441 90039441 C T UBE2J1 Nonsynonymous SNV R305Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 250905 chr20 50140075 50140075 G T NFATC2 Nonsynonymous SNV H215Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 250906 chr20 51871596 51871596 C T rs61758129 TSHZ2 Synonymous SNV N530N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.612 250907 chr7 100282454 100282454 C T GIGYF1 Nonsynonymous SNV A452T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.94 250908 chr20 60504734 60504734 C T rs6061902 CDH4 Synonymous SNV I654I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.06 250909 chr2 74274658 74274658 C A TET3 Synonymous SNV L445L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.089 250910 chr20 60908483 60908483 G A rs555213911 LAMA5 Nonsynonymous SNV R1026W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 250911 chr19 53553836 53553836 G A rs767342293 ERVV-2 Stop gain W444X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 250912 chr20 61459327 61459327 C T COL9A3 Nonsynonymous SNV P300L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 250913 chr2 85626342 85626342 G A rs199588471 CAPG Synonymous SNV L195L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 250914 chr2 85824225 85824225 A - rs768245817 RNF181 0.002 0 0 0 2 0 0 0 0 0 0 0 250915 chr20 61958112 61958112 G A rs181405962 COL20A1 Synonymous SNV Q1155Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.429 250916 chr20 62153135 62153135 C T rs145566461 PPDPF Nonsynonymous SNV P71S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 250917 chr19 17611628 17611628 G A rs138631017 SLC27A1 Nonsynonymous SNV V527M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 250918 chr2 95944847 95944847 G C rs369103674 PROM2 Nonsynonymous SNV S410T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 250919 chr2 9621492 9621492 G A rs773373098 IAH1 Nonsynonymous SNV V8M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 250920 chr20 62200870 62200870 C T rs377344395 HELZ2 Nonsynonymous SNV R240H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.808 250921 chr19 17999220 17999220 C T rs368563694 SLC5A5 Nonsynonymous SNV T536M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 250922 chr20 62324579 62324579 C T rs144034326 RTEL1 Nonsynonymous SNV R756W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 250923 chr17 72522106 72522106 G A rs139180365 CD300LB Stop gain R51X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 250924 chr17 74288261 74288261 - CGC rs750305582 QRICH2 H683delinsQR 0 0 0.003 0 0 0 0 1 0 0 0 0 250925 chr17 74288262 74288262 - GAACTGCACCAGGTTGAACCAAACCAC QRICH2 Q682_H683insRGLVQPGAV 0 0 0.003 0 0 0 0 1 0 0 0 0 250926 chr17 74288282 74288282 G A rs755220200 QRICH2 Synonymous SNV V676V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.977 250927 chr3 119325712 119325712 C G PLA1A Synonymous SNV L55L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.909 250928 chr17 77040200 77040200 C T rs768824429 C1QTNF1 Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 250929 chr2 206364736 206364736 C G rs770002976 PARD3B Nonsynonymous SNV S985C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.27 250930 chr19 36362814 36362814 C T rs148987065 APLP1 Synonymous SNV D242D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 250931 chr17 7810506 7810506 G A CHD3 Nonsynonymous SNV E1636K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 250932 chr17 7827736 7827736 G T rs145774275 KCNAB3 Synonymous SNV I236I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.854 250933 chr21 46066822 46066822 C T rs587737672 KRTAP10-11 Synonymous SNV P149P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 250934 chr7 138588410 138588410 T C rs144488000 KIAA1549 Nonsynonymous SNV Q1198R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.8 250935 chr2 215862512 215862512 A G rs951534800 ABCA12 Synonymous SNV Y749Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.705 250936 chr17 79913345 79913345 G A rs140627736 NOTUM Nonsynonymous SNV P355L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 250937 chr17 80043506 80043506 G A rs150915750 FASN Nonsynonymous SNV P1325L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 17.62 250938 chr2 219878616 219878616 C A rs148715298 CFAP65 Nonsynonymous SNV Q1251H 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 250939 chr2 219878810 219878810 G A rs146323870 LOC100129175 0 0 0 2 0 0 0.005 0 0 0 0 0 6.503 250940 chr17 8051133 8051133 G A rs370025276 PER1 Nonsynonymous SNV A416V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 250941 chr2 219892569 219892569 C T rs13403802 CFAP65 Nonsynonymous SNV V607I 0 0 0 2 0 0 0.005 0 0 0 0 0 6.092 250942 chr19 7676880 7676880 C G CAMSAP3 Nonsynonymous SNV L501V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.128 250943 chr19 39663724 39663724 C T rs1052399906 PAK4 Nonsynonymous SNV T124M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.778 250944 chr19 39905778 39905778 C T rs142140091 PLEKHG2 Nonsynonymous SNV R86C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.9 250945 chr22 19127507 19127507 G A rs773132543 ESS2 Nonsynonymous SNV P144L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.158 250946 chr7 1481903 1481903 C T rs141206892 MICALL2 Nonsynonymous SNV G546S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.084 250947 chr22 19704992 19704992 G T rs752253163 SEPT5-GP1BB 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.438 250948 chr7 149519158 149519158 G A rs748606099 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.64 250949 chr19 41749535 41749535 C T rs773912722 AXL Nonsynonymous SNV P219L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 250950 chr18 22804420 22804420 C G ZNF521 Nonsynonymous SNV Q934H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.77 250951 chr18 2566966 2566966 G A rs746873629 METTL4 Stop gain R84X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 250952 chr22 26422501 26422501 A T rs73154187 MYO18B Synonymous SNV S2188S 0.002 0.005 0.003 2 2 2 0.005 1 0 0 0 0 Benign 0.004 250953 chr18 29055953 29055953 G T rs759088792 DSG3 Nonsynonymous SNV L910F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.557 250954 chr22 26692955 26692955 G A rs200005508 SEZ6L Synonymous SNV G357G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.339 250955 chr22 43950826 43950826 T C rs199642952 EFCAB6 Nonsynonymous SNV M1039V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.052 250956 chr22 30690082 30690082 G A rs79347350 TBC1D10A Synonymous SNV D248D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.797 250957 chr18 44140215 44140215 - GAGGACTCCTCTGATGAG rs759237437 LOXHD1 S965_E966insSEESSS 0 0 0.003 0 0 0 0 1 0 0 0 0 250958 chr18 47811510 47811510 C T CXXC1 Synonymous SNV E258E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.636 250959 chr18 48241485 48241485 C T rs532503517 MAPK4 Nonsynonymous SNV R195C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 250960 chr19 46094606 46094606 G T rs768578403 GPR4 Synonymous SNV P173P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.77 250961 chr18 5489117 5489117 C T EPB41L3 Synonymous SNV A22A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 250962 chr2 239161767 239161767 C T rs148312343 PER2 Nonsynonymous SNV R966Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.585 250963 chr7 36435892 36435892 C T rs762482968 ANLN Synonymous SNV T12T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.17 250964 chr22 38482410 38482410 G A rs767564093 BAIAP2L2 Nonsynonymous SNV R436W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 250965 chr19 49110604 49110604 G A rs142048567 SPACA4 Synonymous SNV L123L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.907 250966 chr3 2908437 2908437 G T CNTN4 Nonsynonymous SNV E152D 0 0 0 2 0 0 0.005 0 0 0 0 0 11.95 250967 chr7 43477739 43477739 C T HECW1 Synonymous SNV A313A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.29 250968 chr19 49218110 49218110 G A rs766102582 MAMSTR Nonsynonymous SNV P58S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.3 250969 chr18 72264687 72264687 G C rs144370261 LINC00909 0 0 0.007 0 0 0 0 2 0 0 0 0 3.576 250970 chr7 149489759 149489759 A T rs752850687 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13 250971 chr7 149516949 149516949 C T rs555334256 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 250972 chr7 150027505 150027505 C T rs148839182 ZBED6CL Synonymous SNV R4R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 250973 chr1 117624489 117624489 C T rs749221941 TTF2 Nonsynonymous SNV A608V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 250974 chr22 47307998 47307998 C A TBC1D22A Nonsynonymous SNV A232E 0.001 0 0 0 1 0 0 0 0 0 0 0 34 250975 chr1 120298113 120298113 G C rs151328418 HMGCS2 Nonsynonymous SNV S333C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 24.6 250976 chr19 52469199 52469199 A G ZNF350 Synonymous SNV H169H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 250977 chr22 50693705 50693705 G A rs45606035 MAPK12 Synonymous SNV H305H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.025 250978 chr19 13910701 13910701 C T rs763027786 ZSWIM4 Synonymous SNV L107L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 250979 chr7 75612845 75612845 G C rs781866008 POR Nonsynonymous SNV D280H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 250980 chr7 2418350 2418350 C T rs149152140 EIF3B Synonymous SNV Y727Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.441 250981 chr7 75959020 75959020 G A rs374125541 YWHAG Synonymous SNV A206A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.912 250982 chr7 80290432 80290433 TC - rs760505238 CD36 S113Ffs*20 0.001 0.003 0 0 1 1 0 0 0 0 0 0 250983 chr7 80300417 80300417 - A rs70961716 CD36 Frameshift insertion I278Nfs*36 0.001 0.003 0 0 1 1 0 0 0 0 0 0 250984 chr1 152081132 152081132 C T rs958353917 TCHH Nonsynonymous SNV E1521K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.7 250985 chrX 9866249 9866249 G A rs147695083 SHROOM2 Nonsynonymous SNV R937Q 0.004 0 0 0 5 0 0 0 2 0 0 0 11.51 250986 chrX 13645309 13645309 C T EGFL6 Synonymous SNV L490L 0.002 0 0 0 2 0 0 0 1 0 0 0 13.29 250987 chrX 20081643 20081643 G A rs184432892 MAP7D2 Synonymous SNV Y87Y 0.002 0 0 0 2 0 0 0 1 0 0 0 9.391 250988 chr1 153934788 153934788 C T rs781141959 SLC39A1 Nonsynonymous SNV A76T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 250989 chr19 1625585 1625585 G A rs144538098 TCF3 Synonymous SNV D163D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.89 250990 chr1 155161740 155161740 G A rs752051467 MUC1 Synonymous SNV T131T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.769 250991 chr1 157095752 157095752 T C rs763221676 ETV3 Synonymous SNV A140A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.238 250992 chr1 157559075 157559075 C T rs62640946 FCRL4 Nonsynonymous SNV E76K 0 0 0 1 0 0 0.003 0 0 0 0 0 3.956 250993 chr19 18391470 18391470 C A rs144161574 JUND Synonymous SNV R232R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 18.87 250994 chrX 117043848 117043848 G C rs141912385 KLHL13 Nonsynonymous SNV T255S 0.002 0 0 0 2 0 0 0 1 0 0 0 17.81 250995 chr19 19206959 19206959 C T rs117940121 SLC25A42 Nonsynonymous SNV P9L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 250996 chr8 121290451 121290451 C T rs147146394 COL14A1 Synonymous SNV Y1105Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.36 250997 chrX 139587163 139587163 C A rs370357436 SOX3 Synonymous SNV A21A 0.002 0 0 0 2 0 0 0 1 0 0 0 16.2 250998 chr19 2324172 2324172 C T rs750219615 LSM7 Nonsynonymous SNV D41N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 250999 chrX 152663930 152663930 G A PNMA6E Synonymous SNV G126G 0.002 0 0 0 2 0 0 0 1 0 0 0 2.217 251000 chr19 30433521 30433521 G C rs753819220 URI1 Nonsynonymous SNV V23L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.255 251001 chr19 31770543 31770543 G A rs774598254 TSHZ3 Synonymous SNV L52L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 251002 chr3 7620315 7620315 C T rs763131797 GRM7 Synonymous SNV T574T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 4.135 251003 chr1 162381791 162381791 A G SH2D1B Nonsynonymous SNV Y6H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 251004 chr19 33792603 33792603 C T CEBPA Nonsynonymous SNV A121T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.596 251005 chr1 1691295 1691295 C T rs578188645 NADK Nonsynonymous SNV V104I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 251006 chr7 7612728 7612728 C G rs774401601 MIOS Nonsynonymous SNV L208V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 251007 chr8 144590022 144590022 T C ZC3H3 Nonsynonymous SNV K537E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.8 251008 chr1 171530218 171530218 G A rs148244294 PRRC2C Synonymous SNV S2029S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.78 251009 chr19 37904970 37904970 T C rs761494365 ZNF569 Nonsynonymous SNV Q38R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 251010 chr8 144804265 144804265 G A rs369868387 MAPK15 Synonymous SNV P493P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.556 251011 chr19 39997881 39997881 G A rs751762334 DLL3 Synonymous SNV P432P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.71 251012 chr10 120789503 120789503 G A NANOS1 Nonsynonymous SNV G64S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.054 251013 chr19 41811636 41811636 C A HNRNPUL1 Nonsynonymous SNV A684D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 251014 chr8 10383150 10383150 G C PRSS55 Nonsynonymous SNV G19R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.352 251015 chr19 42187815 42187815 G A CEACAM7 Synonymous SNV L203L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.812 251016 chr19 42848642 42848642 A G MEGF8 Nonsynonymous SNV Q613R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 251017 chr9 35906595 35906595 - CCACCACCACCACCC HRCT1 H105_P106insHHHPH 0.001 0 0 0 1 0 0 0 0 0 0 0 251018 chr19 44112249 44112249 A G rs749623133 ZNF428 Synonymous SNV H29H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.002 251019 chr20 37384672 37384672 G T ACTR5 Nonsynonymous SNV S389I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 251020 chr10 129902969 129902969 G A rs748434685 MKI67 Stop gain R2019X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 251021 chr10 131506161 131506161 C T rs753839323 MGMT Nonsynonymous SNV A43V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 251022 chr3 129233296 129233296 G A rs762203286 IFT122 Nonsynonymous SNV A908T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.7 251023 chr8 1949527 1949527 G C KBTBD11 Nonsynonymous SNV A57P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.54 251024 chr8 2017443 2017443 G A MYOM2 Nonsynonymous SNV A234T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.452 251025 chr1 202097576 202097576 T C rs778049527 GPR37L1 Synonymous SNV S446S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 251026 chr19 45574075 45574075 G C rs201698145 CLASRP Nonsynonymous SNV R604P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 251027 chr8 24177775 24177775 A C rs199883797 ADAM28 Nonsynonymous SNV E201D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.036 251028 chr1 203024711 203024711 G A rs750892408 PPFIA4 Nonsynonymous SNV A661T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.13 251029 chr1 204380525 204380525 T C rs752213533 PPP1R15B Synonymous SNV T5T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.48 251030 chr8 28574677 28574677 G T rs757634700 EXTL3 Nonsynonymous SNV M367I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.183 251031 chr19 47876057 47876057 C T rs151030783 DHX34 Synonymous SNV S613S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 17.63 251032 chr19 49207114 49207114 G A rs144269088 FUT2 Nonsynonymous SNV G301R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 251033 chrX 118533500 118533500 T C rs963243651 SLC25A43 Nonsynonymous SNV V45A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 251034 chrX 118602345 118602345 T C rs745824830 SLC25A5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 251035 chr8 56656080 56656080 G A rs376346908 TMEM68 Nonsynonymous SNV P169L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.6 251036 chr10 3189710 3189711 CT - rs543058667 PITRM1-AS1 0.003 0.003 0 0 4 1 0 0 0 0 0 0 251037 chr19 49488748 49488748 C T rs138606563 GYS1 Nonsynonymous SNV E201K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 251038 chr8 59509965 59509965 A G rs746291985 NSMAF Synonymous SNV A622A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.77 251039 chr8 59510048 59510048 G C rs757270938 NSMAF Nonsynonymous SNV P595A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 251040 chr19 49573682 49573682 G A rs138686305 KCNA7 Nonsynonymous SNV R337W 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 251041 chr8 623520 623520 T G rs1042524004 ERICH1 Nonsynonymous SNV I278L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.015 251042 chr1 214814140 214814140 A G rs755108813 CENPF Nonsynonymous SNV Q820R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.276 251043 chr2 27599214 27599214 G C SNX17 Nonsynonymous SNV R381P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 22.1 251044 chr10 50121714 50121714 T G rs145385330 LRRC18 Nonsynonymous SNV I163L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.271 251045 chr8 8748700 8748700 G C rs201372453 MFHAS1 Synonymous SNV P623P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 251046 chr19 53116787 53116787 G A ZNF83 Nonsynonymous SNV P344L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 251047 chr1 229771018 229771018 G A rs761670602 URB2 Nonsynonymous SNV A220T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.064 251048 chr4 1377625 1377625 A G rs201318732 UVSSA Nonsynonymous SNV S645G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 251049 chr9 111674716 111674716 G T rs56053149 ELP1 Nonsynonymous SNV S225R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 23.6 251050 chr9 111705107 111705107 A C rs28361182 CTNNAL1 Nonsynonymous SNV M716R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.77 251051 chr9 111739272 111739272 G A rs28361141 CTNNAL1 Synonymous SNV I386I 0.003 0.005 0 0 3 2 0 0 0 0 0 0 12.2 251052 chr9 111761406 111761406 T G rs28361109 CTNNAL1 Nonsynonymous SNV N91T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 18.74 251053 chr9 111929571 111929571 T A rs527415212 FRRS1L Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 19.11 251054 chr21 45670791 45670791 G A rs532813958 DNMT3L Nonsynonymous SNV R271W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 251055 chr8 38853939 38853939 G A rs750181557 TM2D2 Nonsynonymous SNV P7L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 251056 chr4 79860289 79860289 C T rs150501146 PAQR3 Synonymous SNV L30L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 13.98 251057 chr19 56181037 56181037 C T rs753369576 U2AF2 Synonymous SNV V420V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 251058 chr19 56203143 56203143 C T rs373830625 EPN1 Synonymous SNV D237D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.9 251059 chr19 57089692 57089692 A G rs199812524 ZNF470 Nonsynonymous SNV H632R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.578 251060 chr19 58048770 58048770 C T rs148639985 ZNF549 Nonsynonymous SNV T120M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.856 251061 chr10 112541047 112541047 G T rs202238753 RBM20 Nonsynonymous SNV G227V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 251062 chr9 130207468 130207468 G A rs372512264 ZNF79 Nonsynonymous SNV G363R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 251063 chr19 58773233 58773233 T C ZNF544 Nonsynonymous SNV S393P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 251064 chr19 6374840 6374840 C T rs776739906 ALKBH7 Synonymous SNV D174D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 251065 chr22 30776167 30776167 G A rs145777306 RNF215 Nonsynonymous SNV R298W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 251066 chr5 122522836 122522836 C T PRDM6 Nonsynonymous SNV R577W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 251067 chr19 6981112 6981112 G A ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.398 251068 chr19 813488 813488 C T rs367679158 PLPPR3 Synonymous SNV Q441Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.068 251069 chr19 813697 813697 T A rs571102633 PLPPR3 Nonsynonymous SNV T372S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.226 251070 chr19 8176045 8176045 G A rs142576414 FBN3 Synonymous SNV N1369N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.228 251071 chr22 35947950 35947950 G C rs937199637 RASD2 Nonsynonymous SNV E224D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.657 251072 chr10 131506286 131506286 C T rs199734815 MGMT Nonsynonymous SNV H85Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 251073 chr10 13154495 13154495 C A OPTN Nonsynonymous SNV Q138K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.63 251074 chr19 9026256 9026256 C T rs371709616 MUC16 Nonsynonymous SNV E12244K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 251075 chr22 42475786 42475786 C T rs776628036 SMDT1 Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 251076 chr9 125377122 125377122 G A rs142735888 OR1Q1 Nonsynonymous SNV A36T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.36 251077 chr1 38059394 38059394 G A GNL2 Nonsynonymous SNV R40C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 251078 chr19 9086684 9086684 C G MUC16 Nonsynonymous SNV G1711R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.647 251079 chr10 18270385 18270385 G A SLC39A12 Nonsynonymous SNV A223T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.001 251080 chr10 26463125 26463125 C G rs146693681 MYO3A Nonsynonymous SNV T1311S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.7 251081 chr9 131107806 131107806 C G rs149776553 SLC27A4 Synonymous SNV V178V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 8.945 251082 chr22 50943684 50943684 G C LMF2 Synonymous SNV V352V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 251083 chr1 110299734 110299734 G T rs761865020 EPS8L3 Synonymous SNV L308L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.784 251084 chr9 131743596 131743596 G A NUP188 Synonymous SNV K481K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.53 251085 chr22 50959439 50959439 G T rs777314831 NCAPH2 Nonsynonymous SNV A303S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.559 251086 chr9 32633519 32633519 G A rs1036421849 TAF1L Nonsynonymous SNV P687S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.66 251087 chr1 49224898 49224898 G A BEND5 Nonsynonymous SNV A140V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 251088 chr10 45936022 45936022 T A rs759303080 ALOX5 Nonsynonymous SNV S376T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.5 251089 chr4 122078304 122078304 T G rs764856539 TNIP3 Nonsynonymous SNV Q103P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.661 251090 chr5 156381533 156381533 G A rs769812788 TIMD4 Nonsynonymous SNV T98I 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 251091 chr5 156635911 156635911 G A rs61743239 ITK Synonymous SNV T50T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.63 251092 chr1 63282263 63282263 C T rs201187530 ATG4C Nonsynonymous SNV P60S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 251093 chr5 177681982 177681982 C G COL23A1 Nonsynonymous SNV D310H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.2 251094 chr1 153591508 153591508 C T rs2230918 S100A13 Nonsynonymous SNV G54S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 251095 chr10 71392725 71392725 C T rs141324225 FAM241B Synonymous SNV I92I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 251096 chrX 149638772 149638772 G A rs782260093 MAMLD1 Synonymous SNV A284A 0.002 0 0 0 2 0 0 0 1 0 0 0 1.26 251097 chrX 150565795 150565795 T G rs765120199 VMA21 Nonsynonymous SNV D5E 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 0.925 251098 chr1 155005630 155005630 C G DCST2 Nonsynonymous SNV A127P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 251099 chr1 155161053 155161053 G - MUC1 T159Pfs*165 0 0 0.003 0 0 0 0 1 0 0 0 0 251100 chr1 155161055 155161113 CACCATGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG - MUC1 A155_G157del 0 0 0.003 0 0 0 0 1 0 0 0 0 251101 chr4 186263145 186263145 G C rs1037421603 SNX25 Nonsynonymous SNV G524R 0 0 0 2 0 0 0.005 0 0 0 0 0 26.3 251102 chrX 153670468 153670468 G A rs781846403 GDI1 Synonymous SNV V334V 0.002 0 0 0 2 0 0 0 1 0 0 0 7.307 251103 chr1 90486433 90486433 T C ZNF326 Synonymous SNV S213S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.054 251104 chr10 88703471 88703471 G A rs147017508 MMRN2 Nonsynonymous SNV T357M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.498 251105 chr5 2749539 2749539 G C rs61748183 IRX2 Synonymous SNV P204P 0.001 0 0 4 1 0 0.01 0 0 0 0 0 0.203 251106 chrX 153927655 153927655 G A GAB3 Nonsynonymous SNV S420L 0.001 0.005 0 0 1 2 0 0 0 1 0 0 23.1 251107 chrX 154741370 154741370 C T rs201701235 TMLHE Nonsynonymous SNV R241Q 0.001 0.005 0 0 1 2 0 0 0 1 0 0 24.9 251108 chr10 91177152 91177152 C G rs143399526 IFIT5 Nonsynonymous SNV Q66E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 251109 chr1 161967953 161967953 G A rs145215702 OLFML2B Nonsynonymous SNV S380L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.61 251110 chr1 163039145 163039145 A G RGS4 Synonymous SNV L54L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.12 251111 chr20 1532548 1532548 T A SIRPD Synonymous SNV P70P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 251112 chr10 96961909 96961909 A G rs371778473 ACSM6 Synonymous SNV P120P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.223 251113 chrX 34148838 34148848 CCGAGCGGAGA - rs769307446 FAM47A S516Rfs*78 0.001 0.005 0 0 1 2 0 0 0 1 0 0 251114 chrX 34148851 34148878 GGACGTCCGACGAGTCTTGGGAGGCTCC - rs755129393 FAM47A E507Vfs*65 0.001 0.005 0 0 1 2 0 0 0 1 0 0 251115 chr1 167778994 167778994 A G rs201210676 ADCY10 Nonsynonymous SNV V1432A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.482 251116 chr10 99371359 99371359 G A HOGA1 Synonymous SNV L146L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.28 251117 chr20 17950605 17950605 T A rs777352316 MGME1 Nonsynonymous SNV C35S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.81 251118 chrX 53111758 53111758 - CCG rs781884842 TSPYL2 P33_L34insP 0.001 0.008 0 0 1 3 0 0 0 1 0 0 251119 chr1 170015919 170015919 T C rs747417372 KIFAP3 Nonsynonymous SNV K41E 0 0 0.01 0 0 0 0 3 0 0 0 0 26 251120 chr5 61874621 61874621 A - IPO11-LRRC70 0.001 0 0 0 1 0 0 0 0 0 0 0 251121 chr1 171115645 171115645 G A rs11812061 FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.598 251122 chrX 67937777 67937777 C T rs777610643 STARD8 Nonsynonymous SNV R261C 0.001 0.008 0 0 1 3 0 0 0 1 0 0 24.2 251123 chr20 3102750 3102750 G A UBOX5 Nonsynonymous SNV H179Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.321 251124 chr11 102248416 102248416 C G rs762837911 BIRC2 Nonsynonymous SNV A519G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.2 251125 chr1 186106654 186106654 C G HMCN1 Nonsynonymous SNV S4536C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 251126 chr10 114920423 114920423 G A rs148050954 TCF7L2 Nonsynonymous SNV R432Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.78 251127 chr1 1887195 1887195 G T rs201687693 CFAP74 Nonsynonymous SNV A704E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.647 251128 chr1 19487588 19487588 C T rs144209595 UBR4 Synonymous SNV S1743S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.05 251129 chr20 33516667 33516667 C T rs765311167 GSS Synonymous SNV A463A 0 0 0 1 0 0 0.003 0 0 0 0 0 21 251130 chr20 34092808 34092808 G A rs188311566 CEP250 Nonsynonymous SNV R1572Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.3 251131 chr1 22204974 22204974 C T rs770438141 HSPG2 Nonsynonymous SNV G858R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 251132 chr1 20107121 20107121 G A rs769423306 TMCO4 Nonsynonymous SNV A44V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 251133 chr6 10529356 10529356 A C rs369482334 GCNT2 Nonsynonymous SNV E71A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.393 251134 chr20 37168514 37168514 C T rs369041854 RALGAPB Synonymous SNV H825H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.509 251135 chr10 123244914 123244914 G A rs55637244 FGFR2 Synonymous SNV N618N 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.12 251136 chr6 116600614 116600614 C T TSPYL1 Nonsynonymous SNV G127D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.277 251137 chr10 132944897 132944897 C T rs145173247 TCERG1L Nonsynonymous SNV R354Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 251138 chr5 113698871 113698871 G T rs748037041 KCNN2 Synonymous SNV R345R 0.001 0 0 5 1 0 0.013 0 0 0 0 0 7.363 251139 chr6 136871542 136871542 G T rs374838540 MAP7 Nonsynonymous SNV A2E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 251140 chr20 57466799 57466799 C T rs543390941 GNAS Synonymous SNV N6N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.32 251141 chr1 22157978 22157978 C T rs780318514 HSPG2 Synonymous SNV A3811A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 251142 chr10 22015236 22015236 A G rs41277386 MLLT10 Nonsynonymous SNV N648D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.54 251143 chr11 128628210 128628210 G A FLI1 Nonsynonymous SNV M73I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.58 251144 chr20 61450599 61450599 C T rs143307835 COL9A3 Nonsynonymous SNV P70L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.3 251145 chr1 223395537 223395537 G T rs377141491 SUSD4 Synonymous SNV P490P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 4.347 251146 chr6 152651249 152651249 C T SYNE1 Synonymous SNV Q4786Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.102 251147 chr1 226109723 226109723 A C PYCR2 Synonymous SNV P125P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.176 251148 chr1 234566008 234566008 T C rs555089732 TARBP1 Nonsynonymous SNV M812V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 251149 chr5 147862826 147862826 C A HTR4 Nonsynonymous SNV E369D 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24 251150 chr5 150050090 150050090 C T rs61740113 MYOZ3 Synonymous SNV L36L 0 0 0 3 0 0 0.008 0 0 0 0 0 13.15 251151 chr1 24175273 24175273 A C rs771696380 FUCA1 Synonymous SNV T342T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.084 251152 chr11 35685300 35685300 C T TRIM44 Nonsynonymous SNV T214I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 251153 chr6 26234948 26234948 A G H1-3 Nonsynonymous SNV Y72H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 251154 chr6 27218525 27218525 C T rs757371789 PRSS16 Synonymous SNV S177S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.84 251155 chr11 626986 626986 G A rs201753953 SCT Synonymous SNV A25A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.33 251156 chr21 46275142 46275144 TCA - rs767058645 PTTG1IP D159del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 251157 chr10 75562458 75562458 G A rs751788226 NDST2 Nonsynonymous SNV R834W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 251158 chr4 187541130 187541130 C G FAT1 Nonsynonymous SNV V2204L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.39 251159 chr22 19220768 19220768 C T rs116398959 CLTCL1 Nonsynonymous SNV R481Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 251160 chr1 32120960 32120960 C T rs34811700 COL16A1 Synonymous SNV P1415P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 251161 chr1 3417266 3417266 C T MEGF6 Nonsynonymous SNV G880R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 251162 chr6 46661911 46661911 G A TDRD6 Nonsynonymous SNV A2016T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 251163 chr22 25603026 25603026 T C rs751211538 CRYBB3 Synonymous SNV Y161Y 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.271 251164 chr1 36096923 36096923 T G rs778061230 PSMB2 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 251165 chr1 36474546 36474546 G A rs753247568 AGO3 Synonymous SNV A76A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.65 251166 chr6 50791149 50791149 C G rs757111502 TFAP2B Nonsynonymous SNV S37R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.352 251167 chr22 32014112 32014112 G A rs200277066 SFI1 Nonsynonymous SNV R1120Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 251168 chr11 72423490 72423490 C T rs200340609 ARAP1 Nonsynonymous SNV V46I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.698 251169 chr6 71569922 71569922 G A SMAP1 Stop gain W432X 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 251170 chr22 38020988 38020988 A G GGA1 Nonsynonymous SNV Q282R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 251171 chr6 72975206 72975206 G A rs377746076 RIMS1 Nonsynonymous SNV S576N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 251172 chr22 41077844 41077844 C T rs199555247 MCHR1 Nonsynonymous SNV S394L 0 0 0 1 0 0 0.003 0 0 0 0 0 25 251173 chr1 50887109 50887109 - CGCCACCGA DMRTA2 A33_A34insSVA 0 0 0.003 0 0 0 0 1 0 0 0 0 251174 chr6 36645537 36645537 C A DINOL 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.831 251175 chr22 41631163 41631163 A C CHADL Nonsynonymous SNV C750G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 251176 chr1 6211190 6211190 G A CHD5 Nonsynonymous SNV S299L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 251177 chr22 45970490 45970490 C T rs536349408 FBLN1 Synonymous SNV T599T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 251178 chr22 46683037 46683037 G A rs199850063 TTC38 Nonsynonymous SNV R301H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 251179 chr22 50277814 50277814 G T rs768717087 ZBED4 Synonymous SNV V168V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.752 251180 chr22 50278225 50278225 C G rs770426696 ZBED4 Synonymous SNV V305V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.18 251181 chr22 50280127 50280127 C T ZBED4 Synonymous SNV P939P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.262 251182 chr11 57946999 57946999 T G rs149361937 OR9Q1 Nonsynonymous SNV F28C 0 0.003 0 0 0 1 0 0 0 0 0 0 26 251183 chr1 6713977 6713977 G T DNAJC11 Synonymous SNV S167S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.077 251184 chr1 70504300 70504300 A G rs564079288 LRRC7 Synonymous SNV P932P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 251185 chr11 59574190 59574190 T C rs369099009 MRPL16 Nonsynonymous SNV K129R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 251186 chr4 957006 957006 G A DGKQ Stop gain R603X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 251187 chr2 110373243 110373243 C G rs764163690 SOWAHC Nonsynonymous SNV L393V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 251188 chr12 108043041 108043041 A C rs1047321246 BTBD11 Nonsynonymous SNV E531A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 251189 chr7 100683723 100683723 G C rs147678819 MUC17 Nonsynonymous SNV R3009T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 251190 chr11 61646921 61646921 C T rs200333847 FADS3 Nonsynonymous SNV D129N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 251191 chr2 121732563 121732563 G A rs766171973 GLI2 Nonsynonymous SNV D274N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 25.3 251192 chr1 91784884 91784884 T C HFM1 Synonymous SNV A882A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 251193 chr1 91980455 91980455 T C rs201201344 CDC7 Nonsynonymous SNV M333T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 251194 chr2 128046416 128046416 G A rs145201970 ERCC3 Nonsynonymous SNV R283C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 34 251195 chr1 186105949 186105949 G A rs146552651 HMCN1 Nonsynonymous SNV V4488M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 3.734 251196 chr2 131688719 131688719 C T rs143550033 ARHGEF4 Synonymous SNV P1249P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 251197 chr1 97564155 97564155 G A rs147545709 DPYD Nonsynonymous SNV R886C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 251198 chr12 120635188 120635188 G A rs775971868 RPLP0 Synonymous SNV N243N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 251199 chr12 121164943 121164943 T C rs749775207 ACADS Nonsynonymous SNV F54S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.831 251200 chr20 13260504 13260504 C T rs370716668 ISM1 Nonsynonymous SNV P201L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 251201 chr11 64662622 64662622 C T rs755698096 ATG2A Synonymous SNV K1872K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 11.41 251202 chr11 65057296 65057296 A G rs770163623 POLA2 Synonymous SNV E399E 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.13 251203 chr11 65488115 65488115 C A rs773527127 RNASEH2C Nonsynonymous SNV D39Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 23.1 251204 chr12 124820052 124820052 C T rs202085856 NCOR2 Nonsynonymous SNV G2071E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 251205 chr2 163002050 163002050 T A GCG Nonsynonymous SNV D131V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.7 251206 chr11 66455120 66455120 - G rs761325731 SPTBN2 0 0.003 0 0 0 1 0 0 0 0 0 0 251207 chr11 66611808 66611808 C T RCE1 Synonymous SNV L38L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 251208 chr11 67074433 67074433 G C SSH3 Nonsynonymous SNV S155T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.79 251209 chr20 30064250 30064250 T G rs369712963 REM1 Star tloss M1R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 251210 chr20 30605657 30605657 G C rs143281413 CCM2L Nonsynonymous SNV E85Q 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 32 251211 chr2 171822546 171822546 C T GORASP2 Nonsynonymous SNV P354L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.21 251212 chr20 34020830 34020830 G A rs949221462 GDF5OS 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 251213 chr7 144364933 144364933 T C TPK1 Nonsynonymous SNV N19S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.505 251214 chr20 35457478 35457478 C T rs934886142 SOGA1 Synonymous SNV T350T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 251215 chr20 35689623 35689623 C T rs201498053 RBL1 Nonsynonymous SNV R378Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 251216 chr7 149511632 149511632 G A rs373472412 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 251217 chr20 39830907 39830907 C A ZHX3 Nonsynonymous SNV A884S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 251218 chr11 7507166 7507166 - C OLFML1 Frameshift insertion P23Afs*58 0 0.003 0 0 0 1 0 0 0 0 0 0 251219 chr7 150699008 150699008 C T rs370755105 NOS3 Synonymous SNV Y534Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 251220 chr7 150774283 150774283 G A rs149426387 FASTK Synonymous SNV P303P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 251221 chr7 151082277 151082277 C T rs113224092 WDR86 Nonsynonymous SNV G275R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.82 251222 chr11 77921554 77921554 G A USP35 Nonsynonymous SNV E885K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 251223 chr2 191934456 191934456 G A rs199940585 STAT4 Synonymous SNV D169D 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Likely benign 4.925 251224 chr20 46262254 46262254 A G rs1028191152 NCOA3 Nonsynonymous SNV I280V 0 0 0.007 0 0 0 0 2 0 0 0 0 23 251225 chr12 45173776 45173776 C T NELL2 Nonsynonymous SNV R122Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 35 251226 chr2 202483841 202483841 G A rs750770254 C2CD6 Stop gain Q5X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.93 251227 chr20 55777606 55777606 T C rs746092842 BMP7 Nonsynonymous SNV T229A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 251228 chr20 57042377 57042377 G A rs6128351 APCDD1L Synonymous SNV L176L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.127 251229 chr2 206874395 206874395 G A rs368082888 INO80D Nonsynonymous SNV R556C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 251230 chr2 21228679 21228679 G T APOB Nonsynonymous SNV F3687L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.09 251231 chr2 21228680 21228680 A T APOB Nonsynonymous SNV F3687Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.1 251232 chr12 51739625 51739625 C T rs74336876 CELA1 Nonsynonymous SNV R18H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 34 251233 chr1 248084589 248084589 C T rs41305969 OR2T8 Synonymous SNV I90I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.175 251234 chr12 101436218 101436218 G A rs116925463 ANO4 Nonsynonymous SNV V376I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.92 251235 chr2 217498528 217498528 G T rs930386998 IGFBP2 Nonsynonymous SNV E94D 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 251236 chr2 219555173 219555173 C G rs185745664 STK36 Nonsynonymous SNV S553R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 251237 chr7 23810708 23810708 G A rs55796076 STK31 Nonsynonymous SNV A577T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.64 251238 chr2 223168857 223168857 G A rs760651380 CCDC140 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.09 251239 chr7 35709911 35709911 C T rs200034926 HERPUD2 Nonsynonymous SNV V85I 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 251240 chr7 6537825 6537825 G A rs1010698514 GRID2IP Nonsynonymous SNV A1145V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 251241 chr2 27317469 27317469 T C rs201650300 KHK Nonsynonymous SNV Y112H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 11.77 251242 chr21 45540924 45540924 G A rs780728991 LOC102724159, PWP2 Nonsynonymous SNV R526H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 251243 chr7 73467491 73467491 A T rs782498716 ELN 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 251244 chr21 47355186 47355186 G A rs576585779 PCBP3 Synonymous SNV P266P 0 0 0.003 0 0 0 0 1 0 0 0 0 11 251245 chr12 125270862 125270862 G A rs377702101 SCARB1 Nonsynonymous SNV S481L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.113 251246 chr21 48022236 48022236 G A rs564547722 S100B Synonymous SNV S31S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.258 251247 chr22 19137261 19137261 G A rs373129961 GSC2 Nonsynonymous SNV A143V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 251248 chr2 241569847 241569847 G A rs955459358 GPR35 Nonsynonymous SNV G160S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.85 251249 chr22 19950166 19950166 C T rs74745580 COMT Synonymous SNV N39N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.75 251250 chr12 132549332 132549332 G A rs780924450 EP400 Synonymous SNV P2818P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 251251 chr22 21989248 21989248 G A rs28488831 CCDC116 Nonsynonymous SNV R299H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.559 251252 chr5 89975443 89975443 C T rs367621359 ADGRV1 Nonsynonymous SNV R1841C 0 0 0 1 0 0 0.003 0 0 0 0 0 26 251253 chr22 22277485 22277485 G C rs74525416 PPM1F Nonsynonymous SNV Q449E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 251254 chr22 22293944 22293944 C T rs61736973 PPM1F Synonymous SNV E105E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.9 251255 chr7 99032677 99032677 C T rs114565866 ATP5MF-PTCD1, PTCD1 Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.03 251256 chr22 24034335 24034335 G C rs751576772 RGL4 Nonsynonymous SNV V40L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.975 251257 chr2 27306022 27306022 G A rs371170446 EMILIN1 Nonsynonymous SNV R528Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 8.81 251258 chr22 26231294 26231294 A G rs566408951 MYO18B Nonsynonymous SNV D1032G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 251259 chr8 10467635 10467635 - CCCCTCTAACTGCACCCCCTC RP1L1 E1324_T1325insEGVQLEG 0.001 0 0 0 1 0 0 0 0 0 0 0 251260 chr8 10467637 10467637 - CTTGCAGCCCTTCTTCTGTTTTAGTCC RP1L1 E1323_E1324insGTKTEEGLQ 0.001 0 0 0 1 0 0 0 0 0 0 0 251261 chr12 97178579 97178579 A T rs774475237 CFAP54 Nonsynonymous SNV K2789M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 251262 chr8 107763108 107763108 G A rs200966082 OXR1 Nonsynonymous SNV R197H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.67 251263 chr2 31598338 31598338 T C XDH Nonsynonymous SNV M504V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 251264 chr2 71043568 71043568 A G rs782113627 CLEC4F Synonymous SNV A315A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.488 251265 chr22 32791155 32791155 T C rs752823228 RTCB Nonsynonymous SNV H346R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 251266 chr2 38302350 38302350 C T rs28936700 CYP1B1 Nonsynonymous SNV G61E 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 24.5 251267 chr10 103792927 103792927 C G ARMH3 Synonymous SNV V54V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 251268 chr2 43903006 43903006 T C C1GALT1C1L Synonymous SNV L152L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.818 251269 chr2 85818916 85818916 C T rs370157833 VAMP5 Synonymous SNV F24F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 251270 chr22 40078529 40078529 G A rs373676044 CACNA1I Nonsynonymous SNV R1863H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.545 251271 chr2 54873519 54873519 G A rs766190844 SPTBN1 Synonymous SNV A1578A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.64 251272 chr2 55126912 55126912 C G EML6 Synonymous SNV L1039L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 251273 chr22 41573154 41573154 C T rs753891817 EP300 Synonymous SNV L1787L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.093 251274 chr12 49724555 49724555 G C TROAP Nonsynonymous SNV A643P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.11 251275 chr12 50236778 50236778 G A rs138733708 BCDIN3D Synonymous SNV F31F 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 17.51 251276 chr10 114194127 114194127 C T rs370954630 ZDHHC6 Synonymous SNV T273T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.38 251277 chr8 141381088 141381088 C T rs145960296 TRAPPC9 Synonymous SNV S433S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.23 251278 chr2 71762217 71762217 A G rs141818764 DYSF Nonsynonymous SNV M452V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 251279 chr7 113559020 113559020 C T rs764688600 PPP1R3A Nonsynonymous SNV S11N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 251280 chr2 121747651 121747651 T G rs756887433 GLI2 Synonymous SNV R1245R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 251281 chr2 86073631 86073631 T G ST3GAL5 Nonsynonymous SNV I112L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 251282 chr12 56222284 56222284 G A DNAJC14 Synonymous SNV L53L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 5.844 251283 chr2 107460386 107460386 T A rs553369616 ST6GAL2 Synonymous SNV I16I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.6 251284 chr12 56867350 56867350 G T GLS2 Stop gain S153X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 251285 chr2 97400231 97400231 C T rs199689213 LMAN2L Synonymous SNV V113V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.31 251286 chr3 10084246 10084246 C T rs200471133 FANCD2 Nonsynonymous SNV R263C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 251287 chr3 100964694 100964694 G T rs143635399 IMPG2 Nonsynonymous SNV P499T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.82 251288 chr12 58024986 58024986 G A rs141063083 B4GALNT1 Nonsynonymous SNV S127L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 251289 chr2 121732593 121732593 T C GLI2 Nonsynonymous SNV C426R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 251290 chr8 1998928 1998928 C T rs750894734 MYOM2 Synonymous SNV F16F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.623 251291 chr11 76905527 76905527 G A rs185607254 MYO7A Synonymous SNV T1427T 0 0.005 0 2 0 2 0.005 0 0 0 0 0 Likely benign 14.18 251292 chr2 131521931 131521931 A G rs749568100 AMER3 Synonymous SNV L762L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 251293 chr2 131797653 131797653 A C ARHGEF4 Nonsynonymous SNV E1457A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.218 251294 chr8 21985108 21985108 G A rs138592607 HR Nonsynonymous SNV P283S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.142 251295 chr2 137928321 137928321 G A rs867645142 THSD7B Synonymous SNV T512T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.719 251296 chr12 7065653 7065653 C G rs372072330 PTPN6 Synonymous SNV V332V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.64 251297 chr2 141739781 141739781 C A rs372192772 LRP1B Synonymous SNV L945L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 251298 chr7 151093210 151093210 C T rs773917055 WDR86 Synonymous SNV K126K 0 0 0 2 0 0 0.005 0 0 0 0 0 6.633 251299 chr8 27922114 27922114 G A rs376017614 NUGGC Synonymous SNV I282I 0.003 0 0 0 3 0 0 0 0 0 0 0 11.38 251300 chr7 155596343 155596343 G A SHH Synonymous SNV L214L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.874 251301 chr2 162851832 162851832 G A rs201467059 DPP4 Synonymous SNV L701L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.524 251302 chr10 34671623 34671623 A G rs140098714 PARD3 Nonsynonymous SNV I371T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.238 251303 chr8 37702030 37702030 G A rs375795488 BRF2 Nonsynonymous SNV T413M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.325 251304 chr2 1695771 1695771 C T rs200915485 PXDN Synonymous SNV L91L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 16.38 251305 chr8 40554909 40554909 G A rs149820458 ZMAT4 Synonymous SNV A68A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.337 251306 chr8 6673344 6673344 C G rs199970175 XKR5 Synonymous SNV L301L 0 0 0 3 0 0 0.008 0 0 0 0 0 12.52 251307 chr11 71717148 71717148 G C rs779273672 NUMA1 Synonymous SNV G1861G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.635 251308 chr8 8750485 8750485 G A rs757961778 MFHAS1 Synonymous SNV N28N 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.13 251309 chr12 989949 989949 C T rs138446333 WNK1 Synonymous SNV N1225N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.24 251310 chr2 179447039 179447039 A C rs980906933 TTN Nonsynonymous SNV I12983M 0 0 0.007 0 0 0 0 2 0 0 0 0 14.38 251311 chr2 179589217 179589217 C T rs531296995 TTN Nonsynonymous SNV G5718E 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 251312 chr2 198436852 198436852 C T rs929085688 RFTN2 Synonymous SNV E462E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 251313 chr8 73921284 73921295 GAGGAGGAGGAG - TERF1 E59_E62del 0.002 0 0 0 2 0 0 0 0 0 0 0 251314 chr2 201438239 201438239 C G rs781736907 SGO2 Nonsynonymous SNV P1057R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 251315 chr13 109753167 109753167 A C MYO16 Nonsynonymous SNV K1124Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 251316 chr13 111371709 111371709 G T ING1 Nonsynonymous SNV Q73H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 251317 chr2 206041197 206041197 A G rs368676695 PARD3B Nonsynonymous SNV K545R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.81 251318 chr12 110240892 110240892 G A rs200497189 TRPV4 Nonsynonymous SNV R206C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 251319 chr8 22548277 22548277 C T rs570108728 EGR3 Synonymous SNV E253E 0 0 0 3 0 0 0.008 0 0 0 0 0 8.145 251320 chr14 50081022 50081022 G A rs144330020 LRR1 Nonsynonymous SNV G111R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 251321 chr2 202072897 202072897 A G rs149912574 CASP10 Nonsynonymous SNV K262E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 21.3 251322 chr3 140178404 140178404 G A rs375272859 CLSTN2 Nonsynonymous SNV A339T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.481 251323 chr2 210940376 210940376 G C rs575813060 KANSL1L Nonsynonymous SNV S552C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 251324 chr2 20701077 20701077 C T rs570352483 LOC107985856 0 0 0.003 0 0 0 0 1 0 0 0 0 1.181 251325 chr2 20701083 20701083 C T rs535642758 LOC107985856 0 0 0.003 0 0 0 0 1 0 0 0 0 6.204 251326 chr3 150391828 150391828 C A rs781452740 ERICH6 Nonsynonymous SNV V274F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.86 251327 chr13 32811818 32811818 C T rs370930391 FRY Nonsynonymous SNV T2038I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.82 251328 chr13 36822782 36822782 A G CCDC169, CCDC169-SOHLH2 Nonsynonymous SNV V69A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.3 251329 chr9 114456586 114456586 G A SHOC1 Synonymous SNV D977D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.895 251330 chr2 218947843 218947843 G A rs200129236 RUFY4 Nonsynonymous SNV E456K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 251331 chr2 219232463 219232463 C T rs150944493 CATIP Nonsynonymous SNV H325Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 251332 chr9 116136203 116136203 G T rs142394276 HDHD3 Synonymous SNV I144I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.096 251333 chr2 219824708 219824708 C A rs144368604 CDK5R2 Synonymous SNV R56R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 251334 chr2 219846693 219846693 G C rs766366402 FEV Nonsynonymous SNV P138R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 251335 chr13 45517681 45517681 G C rs376727786 NUFIP1 Nonsynonymous SNV R423G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.153 251336 chr3 167034889 167034889 C T rs201975475 ZBBX Synonymous SNV E366E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.111 251337 chr9 117124100 117124100 C T rs148417221 AKNA Nonsynonymous SNV G551R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.305 251338 chr9 117139417 117139417 C T rs147177737 AKNA Nonsynonymous SNV D105N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 251339 chr8 59059173 59059173 C G rs138169488 FAM110B Synonymous SNV S128S 0 0 0 3 0 0 0.008 0 0 0 0 0 12.08 251340 chr9 117840359 117840359 C T rs201633665 TNC Nonsynonymous SNV R846H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 251341 chr14 74388791 74388791 T C rs142729287 ZNF410 Synonymous SNV S311S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.279 251342 chr12 109971297 109971297 G A rs763894625 UBE3B Synonymous SNV P983P 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.39 251343 chr2 228121089 228121089 T C COL4A3 Synonymous SNV L322L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 251344 chr13 99047692 99047692 C T FARP1 Nonsynonymous SNV T459I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 251345 chr13 99100506 99100506 C T rs143527821 FARP1 Nonsynonymous SNV R1025C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 251346 chr12 21967618 21967618 C T rs145005748 ABCC9 Synonymous SNV S1354S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.39 251347 chr2 234368480 234368480 G A rs202198525 DGKD Synonymous SNV P880P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 251348 chr3 194379740 194379740 C T rs148852854 LSG1 Synonymous SNV K235K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.99 251349 chr8 120430385 120430385 G A CCN3 Nonsynonymous SNV C133Y 0 0 0 3 0 0 0.008 0 0 0 0 0 28.3 251350 chr2 234727324 234727324 C G MROH2A Nonsynonymous SNV P1038A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 251351 chr2 234847725 234847725 G A TRPM8 Synonymous SNV L144L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.067 251352 chr9 131584720 131584720 T C rs146032272 ENDOG Nonsynonymous SNV I242T 0.003 0 0 0 4 0 0 0 0 0 0 0 23.2 251353 chr2 238475690 238475690 G A rs147108124 PRLH Nonsynonymous SNV G46R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 6.238 251354 chr3 197616569 197616569 C T rs775824967 IQCG Nonsynonymous SNV R405Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 251355 chr12 319147 319147 G A rs148930832 SLC6A12 Synonymous SNV D2D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.986 251356 chr2 242256951 242256953 TTT - SEPTIN2 F42del 0 0.003 0 0 0 1 0 0 0 0 0 0 251357 chr12 3788200 3788200 G A CRACR2A Synonymous SNV R135R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.68 251358 chr14 20845843 20845843 G C rs769720913 TEP1 Nonsynonymous SNV L1823V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 251359 chr3 33155989 33155989 G A rs773473218 CRTAP Synonymous SNV A140A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.96 251360 chr3 36779144 36779144 C T rs202070330 DCLK3 Nonsynonymous SNV R336Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 251361 chr11 104877890 104877890 G C rs572097980 CASP5 Nonsynonymous SNV S60C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 251362 chr2 24305773 24305773 G A rs143715832 TP53I3 Stop gain Q130X 0.003 0.005 0.003 0 3 2 0 1 0 0 0 0 38 251363 chr9 139250261 139250261 C T rs368172740 GPSM1 Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 251364 chr9 139257458 139257458 C T rs751687775 DNLZ Synonymous SNV S117S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.602 251365 chr2 27276407 27276407 G A rs200969045 AGBL5 Nonsynonymous SNV R118H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 251366 chr3 42699926 42699926 G A rs770284677 ZBTB47 Nonsynonymous SNV V27I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 251367 chr2 32768358 32768358 C T rs765299896 BIRC6 Synonymous SNV S4114S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 251368 chr3 4508872 4508872 G C SUMF1 Nonsynonymous SNV L20V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 251369 chr9 140473213 140473213 G T DPH7 Nonsynonymous SNV A6D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.198 251370 chr3 45988999 45988999 A G CXCR6 Synonymous SNV L342L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.446 251371 chr11 118368654 118368654 G T KMT2A Nonsynonymous SNV A1890S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 251372 chr3 46751074 46751082 AAGAAGAAG - rs876657426 TMIE K76_K78del 0 0 0 1 0 0 0.003 0 0 0 0 0 251373 chr3 46751080 46751082 AAG - TMIE K78del 0 0 0 1 0 0 0.003 0 0 0 0 0 251374 chr3 46784504 46784504 T A rs377053516 PRSS45P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 251375 chr2 45171847 45171847 C T rs201922529 SIX3 Nonsynonymous SNV T316I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 251376 chr2 47300892 47300892 C T rs374843304 TTC7A Nonsynonymous SNV R449C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 251377 chr2 47600655 47600655 C T rs1008677622 EPCAM Nonsynonymous SNV R44C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 251378 chr2 48808838 48808838 - A STON1, STON1-GTF2A1L Frameshift insertion R358Kfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 251379 chr3 49293942 49293942 G A rs200632800 CCDC36 Nonsynonymous SNV A338T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.471 251380 chr9 34649050 34649050 G A rs1055607 GALT Synonymous SNV T183T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.82 251381 chr9 34649447 34649447 T C rs61735982 GALT Synonymous SNV H206H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.661 251382 chr9 35068298 35068298 T C rs140913250 VCP Nonsynonymous SNV I27V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.523 251383 chr9 35091718 35091718 C G rs147101825 PIGO Synonymous SNV A722A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.228 251384 chr2 64778990 64778990 A G rs753376491 AFTPH Nonsynonymous SNV M128V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 251385 chr3 51864501 51864501 G A rs200518397 IQCF3 Nonsynonymous SNV R50H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 251386 chr9 37436754 37436754 C T rs142356700 GRHPR Nonsynonymous SNV P321L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 27.6 251387 chr3 52526207 52526207 C T rs767215130 NISCH Synonymous SNV D1408D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.45 251388 chr9 37537892 37537892 G T rs7044561 FBXO10 Nonsynonymous SNV H212N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.98 251389 chr14 55818929 55818929 T C rs200207283 FBXO34 Synonymous SNV F607F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.386 251390 chr11 125764082 125764082 T A PUS3 Synonymous SNV L140L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.961 251391 chr2 74329066 74329066 G A rs201890863 TET3 Synonymous SNV A1624A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.47 251392 chr2 86459814 86459814 G A rs144874997 REEP1 Nonsynonymous SNV R150W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 251393 chr2 88895060 88895060 T C rs145470505 EIF2AK3 Nonsynonymous SNV K36R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 251394 chr12 62960181 62960181 C T rs757413896 MON2 Nonsynonymous SNV A1419V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 251395 chr3 73673533 73673533 T C rs6803430 PDZRN3 Synonymous SNV L148L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 0.259 251396 chr15 71185931 71185931 C T rs562967881 LRRC49 Synonymous SNV C19C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 251397 chr11 129993542 129993542 C T rs750314819 APLP2 Nonsynonymous SNV R320W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 251398 chr2 98797670 98797670 A G rs758349219 VWA3B Nonsynonymous SNV S93G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 251399 chr15 73566261 73566261 C T rs535801174 NEO1 Synonymous SNV D1025D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 251400 chr15 74277809 74277809 G A rs373693671 STOML1 Nonsynonymous SNV R164C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 251401 chr2 99294861 99294861 T G MGAT4A Synonymous SNV S56S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.843 251402 chr3 101038449 101038449 C T rs201599949 IMPG2 Nonsynonymous SNV V105M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 251403 chr12 66531937 66531937 A - rs754390908 TMBIM4 L162Yfs*66 0 0.003 0 0 0 1 0 0 0 0 0 0 251404 chr3 9852033 9852033 C T rs763495165 TTLL3 Nonsynonymous SNV L115F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.408 251405 chr15 75968945 75968945 C T rs757976865 CSPG4 Nonsynonymous SNV R1972Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 251406 chr12 6753684 6753684 C G ACRBP Nonsynonymous SNV G188A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 251407 chr9 91934704 91934704 A G rs138380737 SECISBP2 Nonsynonymous SNV S26G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.916 251408 chr3 111764731 111764731 G A rs376478648 TMPRSS7 Nonsynonymous SNV R74Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28 251409 chr3 111936342 111936342 T - rs769928785 SLC9C1 K531Nfs*29 0 0 0.007 0 0 0 0 2 0 0 0 0 251410 chrX 101858458 101858458 C A rs753200471 ARMCX5 Nonsynonymous SNV H463Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 251411 chr3 113125825 113125825 G A rs201564695 CFAP44 Synonymous SNV G318G 0 0 0.007 0 0 0 0 2 0 0 0 0 11.22 251412 chr4 106744216 106744216 G A GSTCD Nonsynonymous SNV C449Y 0 0 0 1 0 0 0.003 0 0 0 0 0 32 251413 chr3 118623512 118623514 TTC - rs559291245 IGSF11 E279del 0 0 0.003 0 0 0 0 1 0 0 0 0 251414 chr3 119534216 119534216 C T rs2229856 NR1I2 Synonymous SNV Y328Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 251415 chr4 123197145 123197145 A G rs1025686191 KIAA1109 Synonymous SNV T2853T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.714 251416 chr15 101717650 101717650 T C rs201612305 CHSY1 Synonymous SNV K784K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 251417 chr4 1369218 1369218 A G UVSSA Nonsynonymous SNV E452G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 251418 chr13 100622686 100622688 GGC - ZIC5 P424del 0 0.003 0 0 0 1 0 0 0 0 0 0 251419 chr15 101718674 101718674 T C rs75034086 CHSY1 Nonsynonymous SNV Y443C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.94 251420 chr4 146572236 146572236 T C rs781124654 MMAA Synonymous SNV A252A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.32 251421 chr4 159629589 159629589 T C rs141180629 ETFDH Synonymous SNV H527H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.556 251422 chr4 162841700 162841700 A G rs368695376 FSTL5 Nonsynonymous SNV C88R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 251423 chr15 41379765 41379765 A T INO80 Nonsynonymous SNV L218H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 251424 chr15 42839724 42839724 A G LRRC57 Nonsynonymous SNV V76A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.542 251425 chr3 169664498 169664498 G C LOC100128164 0 0 0.003 0 0 0 0 1 0 0 0 0 1.39 251426 chr3 178543526 178543526 C T rs201902716 KCNMB2 Synonymous SNV L69L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 251427 chr13 39613322 39613322 T G rs115821169 NHLRC3 Nonsynonymous SNV L45R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.13 251428 chr3 179472553 179472553 T C USP13 Nonsynonymous SNV I611T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 251429 chr3 183882383 183882383 G C rs1687252 DVL3 Nonsynonymous SNV E153Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.959 251430 chr9 135374126 135374126 C A CFAP77 Synonymous SNV G80G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.12 251431 chr4 2641568 2641568 C T rs199976101 FAM193A Nonsynonymous SNV A91V 0 0 0 1 0 0 0.003 0 0 0 0 0 25 251432 chr3 183953996 183953996 C G VWA5B2 Synonymous SNV A167A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 251433 chr9 135977123 135977123 G A rs146190679 RALGDS Synonymous SNV S691S 0 0 0 4 0 0 0.01 0 0 0 0 0 Likely benign 0.2 251434 chr4 2824689 2824689 A G rs750149186 SH3BP2 Nonsynonymous SNV K55R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.61 251435 chr16 29982835 29982835 G A rs761299676 TMEM219 Nonsynonymous SNV R231Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 251436 chr16 30419465 30419467 GAG - rs748325281 ZNF771 E32del 0.001 0 0 0 1 0 0 0 0 0 0 0 251437 chr3 185390343 185390343 A T IGF2BP2 Nonsynonymous SNV Y260N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 251438 chr3 187896883 187896884 AG - rs151265768 FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 251439 chr13 84454907 84454907 T C SLITRK1 Nonsynonymous SNV R246G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 251440 chr16 334569 334569 C T rs367938749 PDIA2 Nonsynonymous SNV R128C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 251441 chr14 100123430 100123430 T C rs370762467 HHIPL1 Synonymous SNV D332D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.114 251442 chr3 195638855 195638855 C T rs73208009 TNK2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.588 251443 chr15 65421377 65421377 C T rs766294661 PDCD7 Synonymous SNV A334A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.82 251444 chr15 65676670 65676670 C T rs552095729 IGDCC4 Nonsynonymous SNV G1144R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 251445 chr16 48167672 48167672 T C rs138096651 ABCC12 Nonsynonymous SNV I352V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 251446 chr4 56310805 56310805 G T CLOCK Nonsynonymous SNV L563M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 251447 chr3 33194429 33194429 G A rs759669811 SUSD5 Synonymous SNV D565D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.861 251448 chr3 36873851 36873851 C T rs762140557 TRANK1 Nonsynonymous SNV R2364Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 251449 chr3 38158514 38158514 A G rs758659719 DLEC1 Nonsynonymous SNV M1413V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 251450 chr15 74707274 74707274 C T rs200229481 SEMA7A Nonsynonymous SNV V320I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 251451 chr16 56871622 56871622 C T NUP93 Nonsynonymous SNV L545F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 251452 chr3 38945389 38945389 G A rs763761315 SCN11A Synonymous SNV A603A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.792 251453 chr3 39159656 39159656 G C TTC21A Nonsynonymous SNV L271F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 251454 chr14 105858077 105858077 G T PACS2 Synonymous SNV S653S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.27 251455 chr8 124657999 124657999 G A rs758719041 KLHL38 Nonsynonymous SNV R576C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.9 251456 chr15 80412782 80412782 A G rs147450412 ZFAND6 Synonymous SNV V32V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.443 251457 chr16 67997835 67997835 C T rs554810950 SLC12A4 Synonymous SNV L32L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.375 251458 chr14 105221996 105221996 G A rs141296448 SIVA1 Nonsynonymous SNV A50T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 251459 chr4 77184964 77184964 A - FAM47E, FAM47E-STBD1 K178Nfs*57 0 0 0 1 0 0 0.003 0 0 0 0 0 251460 chr16 69143736 69143736 C A rs773716953 HAS3 Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 251461 chr10 19884353 19884353 G A rs544863574 MALRD1 Nonsynonymous SNV D1971N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 251462 chr3 47823212 47823212 C A rs760287479 SMARCC1 Nonsynonymous SNV A26S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.236 251463 chr3 49154754 49154754 C T rs186556853 USP19 Nonsynonymous SNV R216Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 251464 chr11 57506480 57506480 G A TMX2 Nonsynonymous SNV D157N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 251465 chr3 49548179 49548179 C A rs142572135 DAG1 Nonsynonymous SNV T71K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 251466 chr3 49691434 49691434 C T rs145880557 BSN Nonsynonymous SNV P1482L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 251467 chr14 24705318 24705318 G - rs769533866 GMPR2 K165Sfs*14 0.001 0.003 0 0 1 1 0 0 0 0 0 0 251468 chr16 74339523 74339523 A C rs753976961 PSMD7 Nonsynonymous SNV E289D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 14.43 251469 chr3 51418842 51418842 T G rs201401537 DOCK3 Nonsynonymous SNV L1982R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 251470 chr3 51429129 51429129 C T RBM15B Nonsynonymous SNV S100L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 251471 chr3 51968509 51968509 G A RRP9 Synonymous SNV D413D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 251472 chr15 90216641 90216649 TGCTCCTGG - rs754284928 PLIN1 E16Gfs*28 0 0.003 0 0 0 1 0 0 0 0 0 0 251473 chr3 52430697 52430697 C T rs200962458 DNAH1 Nonsynonymous SNV H3832Y 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 23.2 251474 chr4 89628051 89628051 G C rs139751765 HERC3 Nonsynonymous SNV E913D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 251475 chr4 90169309 90169309 T C rs144260171 GPRIN3 Synonymous SNV A651A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.057 251476 chr16 78064533 78064533 T C rs141510764 CLEC3A Nonsynonymous SNV L130P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 28.8 251477 chr11 59622246 59622246 T C rs142805308 TCN1 Nonsynonymous SNV I334V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 22.7 251478 chr14 36158540 36158540 T A rs996423557 RALGAPA1 Nonsynonymous SNV D979V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.199 251479 chr10 48389777 48389777 A T rs782725888 RBP3 Nonsynonymous SNV D367E 0 0 0 3 0 0 0.008 0 0 0 0 0 0.012 251480 chr10 48370643 48370643 C T rs782141329 ZNF488 Synonymous SNV S37S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.7 251481 chr14 55818297 55818297 G A rs375077319 FBXO34 Nonsynonymous SNV V397M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 251482 chr3 97593097 97593097 C A rs912203334 CRYBG3 Nonsynonymous SNV S1020Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.058 251483 chr16 15808920 15808920 T G rs761693939 MYH11 Synonymous SNV R1878R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.244 251484 chr3 98304319 98304319 G C rs201231166 CPOX Nonsynonymous SNV Q380E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.518 251485 chr14 60977837 60977837 G A rs201991012 SIX6 Nonsynonymous SNV R203Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 251486 chr5 132342493 132342493 T C rs368628799 ZCCHC10 Nonsynonymous SNV K54R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 251487 chr14 65415222 65415222 C A rs372193087 RAB15 Nonsynonymous SNV R207L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.01 251488 chr4 108926051 108926051 G C rs535303944 HADH Nonsynonymous SNV S41T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.01 251489 chr14 71205071 71205071 C T rs372484455 MAP3K9 Nonsynonymous SNV V321I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.854 251490 chr11 6566520 6566520 C A DNHD1 Nonsynonymous SNV L1451M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 251491 chr4 123161370 123161370 G C KIAA1109 Nonsynonymous SNV Q1511H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.856 251492 chr16 23672494 23672494 T A rs61752330 DCTN5 Synonymous SNV V80V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.79 251493 chr16 28509476 28509476 - C APOBR Frameshift insertion R1011Pfs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 251494 chr17 15212029 15212029 C T rs780320381 TEKT3 Nonsynonymous SNV R403H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 251495 chr4 140810631 140810631 - GGT rs777873701 MAML3 P654_Q655insP 0 0 0.003 0 0 0 0 1 0 0 0 0 251496 chr4 140810638 140810638 G T rs894435919 MAML3 Nonsynonymous SNV P651Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.402 251497 chr10 85974343 85974345 AGA - rs150926842 CDHR1 K851del 0.002 0 0 0 2 0 0 0 0 0 0 0 251498 chr4 151153569 151153569 A G rs916716637 DCLK2 Synonymous SNV E460E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.915 251499 chr14 93172835 93172835 G C rs138973517 LGMN Nonsynonymous SNV S395C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.55 251500 chr16 31384637 31384637 G A ITGAX Nonsynonymous SNV E812K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 251501 chr8 37707277 37707277 C T rs138763430 BRF2 Nonsynonymous SNV D9N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 251502 chr8 37732086 37732086 C T rs772011693 RAB11FIP1 Synonymous SNV P523P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.86 251503 chr4 159573088 159573088 T C rs750713154 RXFP1 Nonsynonymous SNV W671R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 251504 chr16 3645673 3645673 C G SLX4 Nonsynonymous SNV G649A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.705 251505 chr16 3721786 3721786 A G rs11541713 TRAP1 Nonsynonymous SNV V338A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 251506 chr14 95081321 95081321 C T rs767709123 SERPINA3 Synonymous SNV N181N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.394 251507 chr10 102891470 102891470 G C TLX1 Nonsynonymous SNV G58R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.17 251508 chr10 98192659 98192659 G C TLL2 Nonsynonymous SNV T142S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 251509 chr10 105139644 105139644 C A rs777626714 TAF5 Synonymous SNV I427I 0 0 0 2 0 0 0.005 0 0 0 0 0 20.9 251510 chr5 156770481 156770481 G A rs148040523 FNDC9 Nonsynonymous SNV P22S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.62 251511 chr4 1985157 1985157 C T rs372612873 NELFA Synonymous SNV A492A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 251512 chr4 22438260 22438260 G A rs764372193 ADGRA3 Nonsynonymous SNV P364S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 251513 chr10 119044118 119044118 C T rs150645978 PDZD8 Nonsynonymous SNV R709K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.409 251514 chr5 16794777 16794777 C G MYO10 Nonsynonymous SNV D149H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 251515 chr4 2628159 2628159 C T rs946537728 FAM193A Nonsynonymous SNV R163W 0 0 0.003 0 0 0 0 1 0 0 0 0 9.677 251516 chr4 3424705 3424705 G A rs776126809 RGS12 Nonsynonymous SNV R388Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 251517 chr11 9047294 9047294 C T SCUBE2 Nonsynonymous SNV G716R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 251518 chr5 171493 171493 C G PLEKHG4B Synonymous SNV V1328V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.313 251519 chr16 67912977 67912977 C T rs761665865 EDC4 Nonsynonymous SNV R469C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 251520 chr5 175749284 175749284 T G rs374074121 SIMC1 Nonsynonymous SNV I75S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 251521 chr5 176958509 176958509 G A FAM193B Nonsynonymous SNV P317L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.76 251522 chr11 95712643 95712643 C A rs147042613 MAML2 Synonymous SNV T980T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.464 251523 chr11 1030599 1030599 C T rs377413633 MUC6 Nonsynonymous SNV R289H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 251524 chr12 102113928 102113928 A T rs144773874 CHPT1 Nonsynonymous SNV I226F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.22 251525 chr12 102271679 102271679 C T DRAM1 Nonsynonymous SNV P38S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 251526 chr5 180052965 180052965 G A rs367879842 FLT4 Nonsynonymous SNV A442V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 251527 chr11 111784442 111784442 T G rs201135642 HSPB2 Synonymous SNV P124P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.316 251528 chr5 33453407 33453407 G A rs145788981 TARS1 Nonsynonymous SNV D115N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 251529 chr11 117860304 117860304 C T rs192749274 IL10RA Synonymous SNV T112T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.16 251530 chr11 721979 721979 G A rs995750956 EPS8L2 Synonymous SNV A324A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.23 251531 chr17 40849591 40849591 G A rs142952244 CNTNAP1 Synonymous SNV P1196P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.02 251532 chr15 65804820 65804820 A G rs202246475 DPP8 Synonymous SNV I24I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.036 251533 chr15 66791920 66791920 G A rs746341624 RPL4 Nonsynonymous SNV A370V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.975 251534 chr17 43012650 43012650 C T rs768395034 KIF18B Nonsynonymous SNV E150K 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 251535 chr11 124761385 124761385 G T rs111626453 ROBO4 Synonymous SNV I441I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 251536 chr4 83788319 83788319 G C rs142883890 SEC31A Nonsynonymous SNV Q340E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 251537 chr4 8417612 8417612 C T rs371825392 ACOX3 Nonsynonymous SNV E87K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 251538 chr5 67591135 67591135 G A rs149090706 PIK3R1 Synonymous SNV T213T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.12 251539 chr12 12814987 12814987 C T rs146630448 GPR19 Synonymous SNV T132T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.5 251540 chr4 88537069 88537069 - GATAGCAGC DSPP S1091_N1092insDSS 0 0 0.01 0 0 0 0 3 0 0 1 0 251541 chr12 130845763 130845763 C T rs151261790 PIWIL1 Synonymous SNV Y568Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 251542 chr12 132198713 132198713 A G rs939484208 SFSWAP Nonsynonymous SNV I106V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.531 251543 chr11 129739572 129739572 C T rs144952739 NFRKB Synonymous SNV S1141S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.76 251544 chr11 1263529 1263529 G C MUC5B Nonsynonymous SNV D1807H 0 0 0 2 0 0 0.005 0 0 0 0 0 12.18 251545 chr17 18137223 18137223 C T rs751755671 LLGL1 Nonsynonymous SNV T175M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 251546 chr5 122727009 122727009 T A rs766586380 CEP120 Nonsynonymous SNV Q252L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 251547 chr17 21188268 21188268 G A rs778416374 MAP2K3 Nonsynonymous SNV M12I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.78 251548 chr17 56358094 56358098 AGAGA - MPO S8Qfs*38 0.002 0 0 0 2 0 0 0 0 0 0 0 251549 chr5 90073736 90073736 C T rs200957385 ADGRV1 Nonsynonymous SNV P4181L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.4 251550 chr5 90136464 90136464 A G ADGRV1 Nonsynonymous SNV I5561V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.67 251551 chr12 21926411 21926411 T A KCNJ8 Nonsynonymous SNV H47L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 251552 chr5 132160900 132160900 G A rs774635428 SHROOM1 Synonymous SNV V311V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.042 251553 chr5 96064890 96064890 G A rs147364817 CAST Nonsynonymous SNV G33R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.88 251554 chr15 91499994 91499994 C A RCCD1 Nonsynonymous SNV F10L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 251555 chr5 96121571 96121574 CAGT - rs566514039 ERAP1 T621Afs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 251556 chr9 20948896 20948896 C T FOCAD Nonsynonymous SNV A1282V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 251557 chr5 140784943 140784943 G A rs567557596 PCDHGA9 Synonymous SNV P808P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.491 251558 chr9 35906544 35906544 - CCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPRHTPHHLHHHHHPH 0 0 0 2 0 0 0.005 0 0 0 0 1 251559 chr12 50724450 50724450 A T rs80144666 FAM186A Nonsynonymous SNV W2314R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 251560 chr12 50748055 50748055 A G rs77002718 FAM186A Nonsynonymous SNV Y854H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 251561 chr12 50748884 50748884 C G rs78724690 FAM186A Nonsynonymous SNV E577D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 251562 chr17 73484855 73484855 G A rs747589886 TMEM94 Nonsynonymous SNV V220I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 251563 chr12 52452690 52452690 A G rs771431553 NR4A1 Nonsynonymous SNV I587V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.16 251564 chr5 151783974 151783974 A G NMUR2 Nonsynonymous SNV V234A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 251565 chr6 147885562 147885562 G A rs374796274 SAMD5 Nonsynonymous SNV M164I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.04 251566 chr6 151671537 151671537 C T rs771936289 AKAP12 Nonsynonymous SNV R566C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 251567 chr5 156522339 156522339 G T HAVCR2 Synonymous SNV I218I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.927 251568 chr16 30097588 30097588 C T rs762073759 TBX6 Synonymous SNV A423A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.6 251569 chr9 97221598 97221598 G A rs149931359 MFSD14B Synonymous SNV R475R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.701 251570 chr12 58109655 58109655 C A OS9 Nonsynonymous SNV P198H 0.002 0 0 0 2 0 0 0 0 0 0 0 32 251571 chr17 4442989 4442989 G A rs138002559 MYBBP1A Synonymous SNV G1236G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.324 251572 chr5 36955707 36955707 C G rs146033170 NIPBL Synonymous SNV V66V 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign/Likely benign 10.23 251573 chr5 36976221 36976221 C T rs80358349 NIPBL Synonymous SNV P404P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.62 251574 chr17 8051504 8051504 A G PER1 Synonymous SNV D374D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.612 251575 chr5 38523523 38523523 A G LIFR Synonymous SNV L187L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 251576 chrX 19369498 19369498 G A rs764303926 PDHA1 Nonsynonymous SNV V131I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 251577 chrX 24605407 24605407 C A rs34701484 PCYT1B Synonymous SNV P154P 0 0 0.003 3 0 0 0.008 1 0 0 0 1 19.81 251578 chr17 48913410 48913410 A G rs140367331 WFIKKN2 Nonsynonymous SNV I38V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.149 251579 chr17 5331467 5331467 A G rs142766814 RPAIN Nonsynonymous SNV H189R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.35 251580 chr16 72992883 72992883 C T rs770677747 ZFHX3 Nonsynonymous SNV E388K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.77 251581 chr5 66458538 66458538 C T MAST4 Nonsynonymous SNV L1036F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 251582 chr6 40400142 40400142 A G rs143720308 LRFN2 Synonymous SNV F237F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.585 251583 chr6 42643926 42643926 A G rs111273100 UBR2 Nonsynonymous SNV T1462A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.56 251584 chr6 43016101 43016101 T C rs532372101 CUL7 Nonsynonymous SNV T762A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 251585 chr13 103394195 103394195 G C rs372782680 CCDC168 Nonsynonymous SNV A2951G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.115 251586 chr18 43450595 43450595 C T rs368651243 EPG5 Synonymous SNV T2054T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.02 251587 chr11 58893108 58893108 C T rs139496218 FAM111B Nonsynonymous SNV A483V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.882 251588 chr13 103718282 103718282 G T rs370438426 SLC10A2 Stop gain C106X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 251589 chr18 47379870 47379870 C T MYO5B Synonymous SNV Q1390Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 251590 chr5 79647088 79647088 T C rs116822866 CRSP8P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.019 251591 chr5 82836170 82836170 G A rs768753163 VCAN Nonsynonymous SNV A1463T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 251592 chr13 114058649 114058649 C T LOC101928841 Nonsynonymous SNV E1286K 0.002 0 0 0 2 0 0 0 0 0 0 0 2.278 251593 chr16 88721183 88721183 G A rs746760132 MVD Synonymous SNV A310A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.97 251594 chr17 72342594 72342594 C T rs150952955 KIF19 Synonymous SNV N285N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.952 251595 chr18 60190749 60190749 C T rs1015613321 ZCCHC2 Nonsynonymous SNV A31V 0.002 0 0 0 2 0 0 0 1 0 0 0 10.48 251596 chr18 67687966 67687966 C A rs145976466 RTTN Nonsynonymous SNV C1101F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign/Likely benign 21.1 251597 chr16 8953150 8953150 G C rs140448527 CARHSP1 Synonymous SNV P12P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.809 251598 chr11 57427495 57427495 C T CLP1 Nonsynonymous SNV P183S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 251599 chr17 73843931 73843931 C T rs202022024 WBP2 Nonsynonymous SNV A160T 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 22.9 251600 chr6 111922720 111922720 A G rs13210247 TRAF3IP2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 6.931 251601 chr6 75892785 75892785 C T COL12A1 Synonymous SNV L624L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.15 251602 chr6 116446506 116446506 A T rs142411445 COL10A1 Nonsynonymous SNV S50R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 10.18 251603 chr6 116600912 116600912 G T TSPYL1 Nonsynonymous SNV Q28K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.961 251604 chr18 74980669 74980669 C T rs557561459 GALR1 Synonymous SNV T287T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.52 251605 chr6 116866637 116866637 A G TRAPPC3L Nonsynonymous SNV I14T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 251606 chr11 64601090 64601090 T C CDC42BPG Synonymous SNV T869T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.052 251607 chr13 45149572 45149572 C G rs750082035 TSC22D1 Synonymous SNV G213G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.949 251608 chr6 129204490 129204490 C T rs374090280 LAMA2 Nonsynonymous SNV H34Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 251609 chr6 129581891 129581891 A G rs201122410 LAMA2 Nonsynonymous SNV Y711C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 251610 chr17 17717007 17717007 G C rs757634010 SREBF1 Nonsynonymous SNV P969R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 251611 chr13 52971420 52971420 C T rs763406181 THSD1 Nonsynonymous SNV S323N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.64 251612 chr13 53420840 53420840 G A PCDH8 Nonsynonymous SNV R578C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 251613 chr11 65780796 65780796 C T rs771335355 CST6 Synonymous SNV R125R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.54 251614 chr13 74420256 74420256 G A rs745984287 KLF12 Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.135 251615 chr17 7751859 7751867 CACCACCAC - rs770804294 KDM6B T760_T762del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 251616 chr11 65113746 65113746 C A DPF2 Synonymous SNV P311P 0 0 0 2 0 0 0.005 0 0 0 0 0 20.2 251617 chr17 80333292 80333292 A G UTS2R Synonymous SNV P364P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.309 251618 chr6 160932113 160932113 G C rs549799170 LPAL2 0 0 0.007 0 0 0 0 2 0 0 0 0 0.614 251619 chr6 160932114 160932114 C A rs569981808 LPAL2 0 0 0.007 0 0 0 0 2 0 0 0 0 5.395 251620 chr17 34091040 34091040 T A rs200805689 C17orf50 Nonsynonymous SNV L10M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 251621 chr6 169064783 169064783 A G rs118133242 SMOC2 Nonsynonymous SNV N439D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.45 251622 chr7 106526714 106526714 A G rs139918549 PIK3CG Nonsynonymous SNV S1003G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.5 251623 chr18 211262 211262 T A rs367551785 USP14 Nonsynonymous SNV M453K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.21 251624 chr11 74413950 74413950 G C CHRDL2 Nonsynonymous SNV R272G 0 0 0 2 0 0 0.005 0 0 0 0 0 7.857 251625 chr7 114563119 114563119 G A MDFIC Nonsynonymous SNV G11R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.836 251626 chr6 25973403 25973403 G A rs753646980 TRIM38 Nonsynonymous SNV S255N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 251627 chr7 121733191 121733191 G A rs898296705 AASS Synonymous SNV H559H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.431 251628 chr14 24033813 24033813 T C AP1G2 Synonymous SNV T221T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.059 251629 chr14 24723929 24723929 C T rs758380663 TGM1 Nonsynonymous SNV G677R 0.002 0 0 0 2 0 0 0 0 0 0 0 25 251630 chr7 130040582 130040582 C T rs782303641 CEP41 Synonymous SNV E225E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 251631 chr19 19212622 19212622 G C rs532906962 SLC25A42 Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.422 251632 chr17 33592090 33592090 G A rs753790585 SLFN5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 251633 chr11 93400849 93400849 G A rs370856142 CEP295 Nonsynonymous SNV R62H 0.002 0 0 0 2 0 0 0 0 0 0 0 15.59 251634 chr19 23542278 23542278 G C ZNF91 Nonsynonymous SNV A1136G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.576 251635 chr6 37180750 37180750 T A TMEM217 Nonsynonymous SNV I210L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.423 251636 chr6 40360251 40360251 T C LRFN2 Nonsynonymous SNV K601E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.701 251637 chr6 4073691 4073691 C G rs149760129 FAM217A Synonymous SNV S70S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.546 251638 chr14 50267269 50267269 G A rs760029795 NEMF Synonymous SNV S726S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 251639 chr14 51196359 51196359 G A rs147630726 NIN Nonsynonymous SNV P1274L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 251640 chr7 149516902 149516902 C G rs201793349 SSPO 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.34 251641 chr11 117161213 117161213 C T rs930570652 BACE1 Nonsynonymous SNV A319T 0 0 0 3 0 0 0.008 0 0 0 0 0 16.65 251642 chr18 74092132 74092132 G A rs202236090 ZNF516 Synonymous SNV I646I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 251643 chr7 150693582 150693582 G A NOS3 Nonsynonymous SNV E121K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 251644 chr18 77703344 77703344 G A rs36097147 SLC66A2 Nonsynonymous SNV R108C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 32 251645 chr7 150839256 150839256 C T rs200901285 AGAP3 Synonymous SNV L325L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.35 251646 chr14 64580063 64580063 C T rs376207235 SYNE2 Nonsynonymous SNV T4205I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.47 251647 chr7 1516007 1516007 G A rs746167496 INTS1 Nonsynonymous SNV R1746W 0 0 0 1 0 0 0.003 0 0 0 0 0 24 251648 chr6 52130093 52130093 G A rs546506544 MCM3 Synonymous SNV Y773Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.706 251649 chr7 1520512 1520512 G C rs368859306 INTS1 Nonsynonymous SNV T1303S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.8 251650 chr10 91162971 91162971 G A rs41284946 IFIT1 Synonymous SNV Q313Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.742 251651 chr7 21939012 21939012 C A rs746738432 DNAH11 Nonsynonymous SNV L4370I 0 0 0 1 0 0 0.003 0 0 0 0 0 28 251652 chr6 80020388 80020388 A T rs190703037 LCAL1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.75 251653 chr17 42478484 42478484 C T GPATCH8 Nonsynonymous SNV D243N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 251654 chr17 60814415 60814415 G A rs201044118 MARCHF10 Stop gain R272X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 251655 chr12 131623788 131623788 G A rs377434309 ADGRD1 Nonsynonymous SNV V869I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.267 251656 chr7 6449512 6449512 C T rs116243689 DAGLB Nonsynonymous SNV V530I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 2.419 251657 chr7 6548905 6548905 C T rs115919919 GRID2IP Nonsynonymous SNV R604Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.4 251658 chr7 56151928 56151928 G C rs776449640 PHKG1 Nonsynonymous SNV D109E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 251659 chr15 40294963 40294963 C G rs189498985 EIF2AK4 Nonsynonymous SNV T1070S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 251660 chr7 114269916 114269916 - CAGCAGCAGCAGCAA FOXP2 Q191_H192insQQQQQ 0 0 0.003 0 0 0 0 1 0 0 0 0 251661 chr19 2810714 2810714 C T rs150480995 THOP1 Synonymous SNV A573A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.93 251662 chr19 47876145 47876145 T C rs754103639 DHX34 Nonsynonymous SNV F643L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 251663 chr12 27908368 27908368 A G rs61415492 MRPS35 Synonymous SNV L319L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.511 251664 chr7 135279402 135279402 A G rs933706344 NUP205 Synonymous SNV L288L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.409 251665 chr15 51827960 51827960 C T DMXL2 Nonsynonymous SNV S779N 0.002 0 0 0 2 0 0 0 0 0 0 0 31 251666 chr8 102631911 102631911 G A rs3779617 GRHL2 Nonsynonymous SNV V399I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26.4 251667 chr19 50771455 50771455 G A rs576611342 MYH14 Nonsynonymous SNV R914Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 14.95 251668 chr7 142759986 142759986 C T rs142285387 OR6W1P 0 0 0.014 0 0 0 0 4 0 0 0 0 6.708 251669 chr17 79618706 79618706 G A rs117011954 PDE6G Synonymous SNV D52D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 7.656 251670 chr15 58001440 58001440 T C GCOM1, POLR2M Synonymous SNV S57S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.132 251671 chr8 11706668 11706668 G A rs762162520 CTSB Synonymous SNV F111F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.374 251672 chr15 65209596 65209596 G A rs918639869 ANKDD1A Synonymous SNV V50V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 251673 chr8 121463265 121463265 T C rs140587550 MTBP Synonymous SNV P74P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.779 251674 chr7 150655457 150655457 G A KCNH2 Synonymous SNV P202P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 251675 chr8 124162363 124162363 C T rs145832961 TBC1D31 Nonsynonymous SNV T820I 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 15.41 251676 chr7 150746303 150746303 G A rs372587470 ASIC3 Nonsynonymous SNV G111R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 251677 chr8 124408475 124408475 C A rs778890197 ATAD2 Synonymous SNV S41S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 20.4 251678 chr11 16077331 16077331 T C rs146022326 SOX6 Synonymous SNV E365E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.032 251679 chr8 124701169 124701170 TA - rs771567427 ANXA13 I220Rfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 251680 chr7 20199711 20199711 A G rs374943454 MACC1 Synonymous SNV N91N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.009 251681 chr15 75183746 75183746 G A MPI Synonymous SNV G7G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.38 251682 chr7 23624837 23624837 T G rs752308519 CLK2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.122 251683 chr17 79504064 79504064 C T rs759804681 FSCN2 Synonymous SNV A503A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Likely benign 18.52 251684 chr15 77907403 77907403 G A rs755551605 LINGO1 Synonymous SNV A282A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.76 251685 chr7 2552806 2552806 G C rs139214722 LFNG Nonsynonymous SNV W21C 0 0 0.007 0 0 0 0 2 0 0 0 0 11.84 251686 chr7 2577960 2577960 G A rs60152725 BRAT1 Nonsynonymous SNV R562W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.77 251687 chr7 2578285 2578285 G A rs142346283 BRAT1 Synonymous SNV A453A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.326 251688 chr7 2581047 2581047 G A rs7807895 BRAT1 Synonymous SNV D227D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.309 251689 chr11 2432985 2432985 C T rs148442419 TRPM5 Synonymous SNV S829S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.8 251690 chr7 2583352 2583352 G A rs139443843 BRAT1 Synonymous SNV F50F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.772 251691 chr7 2611890 2611890 C T rs61736333 IQCE Synonymous SNV G43G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.09 251692 chr7 2625896 2625896 C T rs61736928 IQCE Synonymous SNV A228A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.59 251693 chr7 2629660 2629660 G A rs79515981 IQCE Synonymous SNV K323K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.396 251694 chr7 2644589 2644589 C T rs74809904 IQCE Synonymous SNV G504G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.452 251695 chr7 2695764 2695764 G A rs2109350 TTYH3 Synonymous SNV T353T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 251696 chr11 2688201 2688201 G A rs536499927 KCNQ1OT1 0.002 0 0 0 2 0 0 0 0 0 0 0 6.471 251697 chr7 27185478 27185478 T C HOXA6 Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.972 251698 chr19 55658051 55658053 TCC - rs760264736 TNNT1 E24del 0.001 0 0 0 1 0 0 0 0 0 0 0 251699 chr19 44571253 44571253 A G rs183080513 ZNF223 Synonymous SNV R424R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.041 251700 chr12 81331494 81331494 T C rs753563774 LIN7A Nonsynonymous SNV K3R 0.003 0 0 0 3 0 0 0 0 0 0 0 18.52 251701 chr15 85403097 85403097 C T rs144613098 ALPK3 Synonymous SNV H1352H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.21 251702 chr11 33566365 33566365 G A rs200865285 KIAA1549L Synonymous SNV L942L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.245 251703 chr8 144895089 144895089 C T SCRIB Nonsynonymous SNV E229K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 251704 chr19 55828196 55828196 G A rs770190658 TMEM150B Nonsynonymous SNV R155C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 251705 chr12 88568450 88568450 C A TMTC3 Nonsynonymous SNV F191L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.27 251706 chr8 145151499 145151499 G A rs3211463 CYC1 Synonymous SNV E208E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.687 251707 chr7 36450271 36450271 C T rs11976268 ANLN Synonymous SNV D415D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 251708 chr7 36633956 36633956 G A rs34628993 AOAH Synonymous SNV D277D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.241 251709 chr19 45184582 45184582 C T rs774484383 CEACAM19 Nonsynonymous SNV R264W 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 251710 chr19 45419476 45419476 G A rs72654455 APOC1 Nonsynonymous SNV V30I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.582 251711 chr8 145738446 145738446 G A RECQL4 Stop gain Q847X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 37 251712 chr19 45810181 45810181 C T rs747014280 CKM Nonsynonymous SNV V325M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 251713 chr19 45854575 45854575 G A rs201702505 KLC3 Nonsynonymous SNV R492Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 251714 chr8 145770922 145770922 G A rs144121067 ARHGAP39 Synonymous SNV C744C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.886 251715 chr19 56901434 56901434 G A rs147410977 ZNF582 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 251716 chr18 56377243 56377243 C T rs766584932 MALT1 Synonymous SNV Y288Y 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.31 251717 chr8 1808302 1808302 G A rs533580747 ARHGEF10 Nonsynonymous SNV A145T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.1 251718 chr13 111109209 111109209 G A rs561182370 COL4A2-AS2 Nonsynonymous SNV T288M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.45 251719 chr8 23112782 23112782 G A rs377356281 CHMP7 Nonsynonymous SNV R55H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 251720 chr18 74208486 74208486 - G C18orf65 0.001 0.003 0 0 1 1 0 0 0 0 0 0 251721 chr7 6071017 6071017 T C ANKRD61 Nonsynonymous SNV I4T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 251722 chr13 114060002 114060002 C T rs564735904 LOC101928841 Nonsynonymous SNV V835I 0.003 0 0 0 3 0 0 0 0 0 0 0 4.611 251723 chr7 72849467 72849467 G A rs373485212 FZD9 Nonsynonymous SNV R377H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 251724 chr7 72985522 72985522 C T rs185080024 TBL2 Nonsynonymous SNV R127Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 251725 chr19 50779365 50779365 G A rs368190437 MYH14 Synonymous SNV A1154A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.42 251726 chr16 15917199 15917199 C T rs745609580 MYH11 Nonsynonymous SNV V139I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.93 251727 chr7 7677573 7677573 C G rs770251303 RPA3 Nonsynonymous SNV V69L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 251728 chr12 116446355 116446355 A G rs61748071 MED13L Synonymous SNV I621I 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 4.692 251729 chr19 10398827 10398827 A G rs141101411 ICAM4 Synonymous SNV K262K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.958 251730 chr13 31495157 31495157 C A rs138327988 MEDAG Nonsynonymous SNV T132K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 251731 chr16 19548793 19548793 C T rs200731280 CCP110 Nonsynonymous SNV P601L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.6 251732 chr19 8175995 8175995 C T rs769711401 FBN3 Nonsynonymous SNV R1386H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 251733 chr16 19559318 19559318 G A rs759872553 CCP110 Nonsynonymous SNV R961K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 251734 chr19 830860 830860 C T rs141614223 AZU1 Synonymous SNV N171N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.971 251735 chr8 55372366 55372366 C G rs373883191 SOX17 Synonymous SNV A352A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.98 251736 chr8 63831043 63831043 T A NKAIN3 Nonsynonymous SNV I168N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 251737 chr8 63831047 63831047 T A NKAIN3 Nonsynonymous SNV S169R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 251738 chr8 63831056 63831056 G T NKAIN3 Nonsynonymous SNV M172I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 251739 chr7 98882531 98882531 G A rs542936258 MYH16 0 0 0.007 0 0 0 0 2 0 0 0 0 8.225 251740 chr16 2285098 2285098 C T rs781587768 E4F1 Nonsynonymous SNV A474V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 251741 chr19 13041058 13041058 T C FARSA Nonsynonymous SNV K161R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 19.06 251742 chr13 45914856 45914856 C T rs145908479 TPT1 Synonymous SNV V31V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.35 251743 chr16 2329071 2329071 G A rs146709251 ABCA3 Nonsynonymous SNV R1474W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 24.3 251744 chr8 101190156 101190156 T C rs141605537 SPAG1 Nonsynonymous SNV L138P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.85 251745 chr19 1417508 1417508 C T rs138047480 DAZAP1 Synonymous SNV F13F 0 0.005 0 0 0 2 0 0 0 1 0 0 13.22 251746 chr19 14765837 14765837 T G rs781052118 ADGRE3 Nonsynonymous SNV K126N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 251747 chr16 28508094 28508094 G A rs201285042 APOBR Nonsynonymous SNV E578K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 251748 chr8 98656894 98656894 G A rs140652237 MTDH Nonsynonymous SNV V54M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 23.9 251749 chr8 121554058 121554058 C T rs760827755 SNTB1 Nonsynonymous SNV G506R 0 0 0.007 0 0 0 0 2 0 0 0 0 33 251750 chr8 124440262 124440262 T C rs200770421 WDYHV1 Star tloss M1? 0 0 0.007 0 0 0 0 2 0 0 0 0 12.42 251751 chr19 16973790 16973790 G T SIN3B Synonymous SNV G454G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.634 251752 chr16 31201645 31201645 C T rs770828154 FUS Synonymous SNV G405G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 251753 chr8 124706012 124706012 C T rs376084774 ANXA13 Nonsynonymous SNV R160H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 251754 chr16 3639782 3639782 G A rs149011965 SLX4 Nonsynonymous SNV A1286V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.996 251755 chr11 57077274 57077274 C G rs978778299 TNKS1BP1 Nonsynonymous SNV D971H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.48 251756 chr8 133879305 133879305 T C rs140030312 TG Synonymous SNV N20N 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Benign 0.023 251757 chr16 4731756 4731756 C T rs758808663 MGRN1 Nonsynonymous SNV P424L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 251758 chr8 13959930 13959930 C G rs142136870 SGCZ Nonsynonymous SNV K199N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 251759 chr9 115759746 115759746 T C rs767808373 ZNF883 Nonsynonymous SNV Y265C 0 0 0 1 0 0 0.003 0 0 0 0 0 3.094 251760 chr8 143425516 143425516 G A TSNARE1 Nonsynonymous SNV H186Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 251761 chr19 18642994 18642994 G A rs200681860 FKBP8 Synonymous SNV I408I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 251762 chr16 56458988 56458988 C T rs761497043 AMFR Synonymous SNV V84V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 251763 chr16 56623842 56623842 A G rs147656753 MT3 Nonsynonymous SNV K31R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 251764 chr8 144691660 144691660 G A rs995840038 PYCR3 Nonsynonymous SNV A20V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 251765 chr8 144732441 144732441 G A rs530519666 ZNF623 Synonymous SNV T133T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.65 251766 chr19 21358275 21358275 C A rs533022361 ZNF431 Nonsynonymous SNV A15E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.948 251767 chr19 58117463 58117463 C T rs904154275 ZNF530 Synonymous SNV P190P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.129 251768 chr16 67241597 67241597 C T rs778879029 LRRC29 Nonsynonymous SNV A195T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 251769 chr16 67271435 67271435 C T FHOD1 Synonymous SNV E264E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 251770 chr8 145701127 145701127 T A rs774860387 FOXH1 Nonsynonymous SNV S5C 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 24.1 251771 chr16 69744927 69744927 G A rs762495795 NQO1 Synonymous SNV H187H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.418 251772 chr9 130586621 130586621 C T rs1800956 ENG Nonsynonymous SNV D366N 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.6 251773 chr9 132510955 132510955 G T rs763655674 PTGES Nonsynonymous SNV P63H 0.003 0 0 2 3 0 0.005 0 0 0 0 0 19.39 251774 chr8 1950495 1950495 C T KBTBD11 Synonymous SNV S379S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.244 251775 chr16 81236214 81236214 G A rs777728393 PKD1L2 Nonsynonymous SNV T345M 0.002 0 0 0 2 0 0 0 0 0 0 0 1.473 251776 chr8 75276531 75276531 G T rs140811185 GDAP1 Nonsynonymous SNV A278S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.1 251777 chr13 111109293 111109293 G A rs752952473 COL4A2-AS2 Nonsynonymous SNV T260M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.563 251778 chr8 24771324 24771324 C T rs148476258 NEFM Synonymous SNV D6D 0 0 0.007 0 0 0 0 2 0 0 0 0 17.23 251779 chr19 18723788 18723788 - GCC rs756039506 TMEM59L P10_L11insP 0.002 0.003 0 0 2 1 0 0 0 0 0 0 251780 chr9 135771712 135771712 T C rs568004490 TSC1 Synonymous SNV L1084L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 Benign/Likely benign 1.488 251781 chr8 97172897 97172897 G C rs369859861 GDF6 Synonymous SNV L8L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 251782 chr13 114290420 114290420 C T rs150730789 TFDP1 Synonymous SNV I272I 0 0 0 3 0 0 0.008 0 0 0 0 0 18.48 251783 chr16 863641 863641 T C rs759509394 PRR25 Nonsynonymous SNV I330T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.77 251784 chr8 3205643 3205643 T C CSMD1 Synonymous SNV L1115L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.881 251785 chr11 66813338 66813338 T C rs377573920 SYT12 Nonsynonymous SNV I246T 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 12.33 251786 chr9 139244192 139244192 G A rs182017963 GPSM1 Nonsynonymous SNV V478I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.66 251787 chr8 36703348 36703348 G C rs752729560 KCNU1 Nonsynonymous SNV D608H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 251788 chr14 66190865 66190865 A G rs143783144 FUT8 Synonymous SNV G198G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.826 251789 chr14 69521751 69521751 C T rs749335199 DCAF5 Nonsynonymous SNV R550Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 251790 chr16 89293220 89293220 C G ZNF778 Nonsynonymous SNV S147C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.2 251791 chr11 70507838 70507838 G A rs200832832 SHANK2 Nonsynonymous SNV A12V 0.005 0 0 1 6 0 0.003 0 0 0 0 0 17.87 251792 chr14 71502789 71502789 G A rs144988847 PCNX1 Nonsynonymous SNV R1150Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 251793 chr8 61878874 61878874 G A rs11986939 LOC100130298 0 0 0.003 0 0 0 0 1 0 0 0 0 2.288 251794 chr8 70517095 70517095 G A rs765486147 SULF1 Synonymous SNV L435L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 251795 chr17 10546195 10546195 G A MYH3 Nonsynonymous SNV T510M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.66 251796 chr14 77491943 77491943 A C rs930258948 IRF2BPL Synonymous SNV P731P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 251797 chr9 20874730 20874730 T C rs1027609541 FOCAD Synonymous SNV V747V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 251798 chr17 16525669 16525669 G A ZNF624 Nonsynonymous SNV A844V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.4 251799 chr14 91155948 91155948 G A rs746226489 TTC7B Nonsynonymous SNV R296C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.3 251800 chr8 99205219 99205219 T G rs968218993 NIPAL2 Nonsynonymous SNV K380T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 251801 chr1 11576093 11576093 C T rs374610106 DISP3 Nonsynonymous SNV R542C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 251802 chr19 47544304 47544304 C T rs758940170 NPAS1 Nonsynonymous SNV A188V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.909 251803 chr9 112172592 112172592 C T rs141350094 PTPN3 Nonsynonymous SNV V141I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.64 251804 chr1 117492174 117492174 G T rs766320592 PTGFRN Nonsynonymous SNV G398V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.84 251805 chr9 386329 386329 A C rs776399238 DOCK8 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 23 251806 chr9 116116588 116116588 C T rs557164626 BSPRY Synonymous SNV D90D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.198 251807 chr1 177899031 177899031 G A rs377206654 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R708C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 251808 chr9 74561924 74561927 AATT - rs533403716 C9orf85 I36Mfs*20 0.002 0 0 1 2 0 0.003 0 0 0 0 0 251809 chr9 75780123 75780123 G A rs753484642 ANXA1 Nonsynonymous SNV R235K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 251810 chr9 77339576 77339576 C G TRPM6 Nonsynonymous SNV A2003P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 251811 chr1 179089347 179089347 A C ABL2 Nonsynonymous SNV H320Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 251812 chr12 102160052 102160052 A C rs145586576 GNPTAB Nonsynonymous SNV Y477D 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Uncertain significance 22.8 251813 chr12 102179861 102179861 A T rs143907628 GNPTAB Nonsynonymous SNV I167N 0.004 0 0.007 1 5 0 0.003 2 0 0 0 0 Uncertain significance 20.6 251814 chr9 125563347 125563347 T G rs56032401 OR1K1 Nonsynonymous SNV S316A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 251815 chr1 152059912 152059912 G T rs761146376 TCHHL1 Nonsynonymous SNV N82K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.76 251816 chr15 41021778 41021778 C G rs188331342 RAD51 Synonymous SNV A241A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.97 251817 chr1 19474492 19474492 G A UBR4 Nonsynonymous SNV H2542Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 251818 chr19 51870438 51870438 C A rs185510103 CLDND2 Nonsynonymous SNV M154I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.83 251819 chr15 42114423 42114423 A C rs144729646 MAPKBP1 Nonsynonymous SNV D1011A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 251820 chr12 110841475 110841475 G A rs750459818 ANAPC7 Synonymous SNV F20F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.51 251821 chrX 11312926 11312926 A G rs757235287 AMELX Synonymous SNV L6L 0 0 0 2 0 0 0.005 0 0 0 0 1 5.82 251822 chr1 154223688 154223688 C T rs774812504 UBAP2L Nonsynonymous SNV S462L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 251823 chr1 154934566 154934566 G C rs988001084 LOC101928120 Nonsynonymous SNV G160R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.362 251824 chr9 133948073 133948073 G T rs374180120 LAMC3 Nonsynonymous SNV A1090S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 251825 chr1 202273698 202273698 G A rs111928234 LGR6 Nonsynonymous SNV R198H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 27.1 251826 chr9 136412285 136412285 A G rs766816510 ADAMTSL2 Nonsynonymous SNV I297V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.97 251827 chr1 156737569 156737569 G A rs766072065 PRCC Synonymous SNV S2S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 251828 chr1 205813294 205813294 C T rs572366251 PM20D1 Nonsynonymous SNV V210I 0.001 0 0 0 1 0 0 0 0 0 0 0 21 251829 chr1 20639400 20639400 G A rs532220674 VWA5B1 Nonsynonymous SNV V71M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 251830 chr15 58840764 58840764 C A rs984634041 LIPC Synonymous SNV P348P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.58 251831 chr15 59064173 59064173 T A MINDY2 Nonsynonymous SNV S193R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 251832 chr1 207195529 207195529 C T rs146846282 C1orf116 Nonsynonymous SNV R281Q 0.003 0 0 3 4 0 0.008 0 0 0 0 0 34 251833 chr1 159824625 159824625 G - VSIG8 P388Rfs*70 0.001 0.003 0 0 1 1 0 0 0 0 0 0 251834 chr9 140145308 140145308 G A rs9696356 STPG3-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 2.168 251835 chr9 15307133 15307133 C A rs761341121 TTC39B Nonsynonymous SNV Q63H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.449 251836 chrX 54334415 54334415 T C WNK3 Synonymous SNV T343T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.042 251837 chr17 40939348 40939348 T C rs531680448 WNK4 Nonsynonymous SNV V174A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 251838 chr9 311975 311975 G A rs143461644 DOCK8 Nonsynonymous SNV V116M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.64 251839 chr15 74836563 74836563 G A rs61733842 ARID3B Nonsynonymous SNV G96R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 251840 chr15 74918245 74918245 C T rs144212195 CLK3 Synonymous SNV N399N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 251841 chr15 75014027 75014027 A G rs4987133 CYP1A1 Nonsynonymous SNV I286T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.2 251842 chr15 75014727 75014727 G A rs61747605 CYP1A1 Nonsynonymous SNV P238S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.2 251843 chr1 171753414 171753414 C T rs376893557 EEF1AKNMT Stop gain Q144X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 251844 chr9 35841612 35841612 G T rs151064858 TMEM8B Nonsynonymous SNV R377L 0 0 0.01 0 0 0 0 3 0 0 0 0 16.22 251845 chr15 41193068 41193068 G A VPS18 Synonymous SNV E684E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.262 251846 chr9 72091019 72091019 G A rs201849958 APBA1 Nonsynonymous SNV S414L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 251847 chr17 47486479 47486479 C G rs544336705 PHB Synonymous SNV L145L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 251848 chr9 72962939 72962939 C G rs372756291 SMC5 Synonymous SNV L958L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.982 251849 chr9 79259658 79259658 C T rs772474129 PRUNE2 Nonsynonymous SNV G173R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 251850 chr1 228506817 228506817 G A rs374085426 OBSCN Synonymous SNV T4788T 0.006 0 0 2 7 0 0.005 0 0 0 0 0 11.45 251851 chr17 51901007 51901007 G C rs144963921 KIF2B Nonsynonymous SNV V205L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 251852 chr17 51901338 51901338 G A rs143310670 KIF2B Nonsynonymous SNV G315E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 251853 chr9 88248029 88248029 T C rs35531424 AGTPBP1 Synonymous SNV S573S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.213 251854 chr19 621260 621260 A C rs764267382 POLRMT Nonsynonymous SNV F813C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 251855 chr15 51741295 51741295 C T DMXL2 Synonymous SNV Q2363Q 0 0 0 2 0 0 0.005 0 0 0 0 0 8.433 251856 chr15 90185542 90185542 G T rs779180324 KIF7 Synonymous SNV G762G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.346 251857 chrX 100496743 100496743 A G rs749587463 DRP2 Nonsynonymous SNV T138A 0 0 0.007 2 0 0 0.005 2 0 0 1 1 22.2 251858 chrX 105153184 105153184 A G NRK Synonymous SNV P517P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.036 251859 chr19 7535030 7535030 C T rs768494322 ARHGEF18 Nonsynonymous SNV P1069L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 251860 chr19 7694385 7694385 G T rs745944962 XAB2 Nonsynonymous SNV P10H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 251861 chr15 58724288 58724288 A G LIPC Synonymous SNV Q19Q 0 0 0 2 0 0 0.005 0 0 0 0 0 8.169 251862 chr15 93482864 93482864 A G rs117844037 CHD2 Nonsynonymous SNV K203R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.197 251863 chr1 200973896 200973896 G A rs768781897 KIF21B Synonymous SNV L300L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.37 251864 chr17 65052175 65052175 G A rs747450818 CACNG1 Nonsynonymous SNV V153I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 251865 chr15 65308849 65308855 AGCAGAA - MTFMT I244Mfs*6 0 0 0 2 0 0 0.005 0 0 0 0 0 251866 chr1 202205115 202205115 A T LGR6 Nonsynonymous SNV Q141L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 251867 chr1 247024399 247024399 T C rs41305967 AHCTF1 Nonsynonymous SNV I1312V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 251868 chr15 69011837 69011837 T C rs144539309 CORO2B Synonymous SNV V414V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 4.287 251869 chrX 154327635 154327635 C T rs782154929 BRCC3 Synonymous SNV I198I 0 0 0.007 0 0 0 0 2 0 0 1 0 15.08 251870 chr1 247587555 247587555 G A NLRP3 Synonymous SNV R270R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 251871 chr1 247615133 247615133 A G OR2B11 Nonsynonymous SNV L51P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 251872 chrX 35970066 35970066 T C rs138543281 CFAP47 Synonymous SNV F344F 0 0 0.007 0 0 0 0 2 0 0 1 0 1.687 251873 chrX 53253972 53253972 T C KDM5C Nonsynonymous SNV I34V 0 0 0.007 0 0 0 0 2 0 0 1 0 23.9 251874 chr16 1961966 1961966 T C rs780433573 HS3ST6 Synonymous SNV T218T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 251875 chr1 20975135 20975135 G A rs192131551 PINK1-AS 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.894 251876 chr16 2144117 2144117 G C rs751730287 PKD1 Nonsynonymous SNV Q3531E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.131 251877 chr1 2116075 2116075 C T rs554637318 PRKCZ Synonymous SNV Y360Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.575 251878 chr12 64587853 64587853 C T rs146776139 C12orf66 Synonymous SNV T369T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.06 251879 chr1 220356104 220356104 A T rs150643803 RAB3GAP2 Nonsynonymous SNV V723E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.173 251880 chr15 86813225 86813225 C T rs373491857 AGBL1 Synonymous SNV S638S 0 0 0 2 0 0 0.005 0 0 0 0 0 11.08 251881 chr1 110009509 110009509 C G rs866856572 SYPL2 Nonsynonymous SNV P15R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 251882 chr1 222838660 222838660 T C rs201946654 MIA3 Nonsynonymous SNV M686T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.775 251883 chr10 115385869 115385869 G A NRAP Synonymous SNV F692F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 251884 chr1 11562895 11562895 G C DISP3 Synonymous SNV R419R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.133 251885 chr16 3642792 3642792 G A rs75184268 SLX4 Synonymous SNV T745T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.343 251886 chr10 118969065 118969066 CT - rs869025175 KCNK18 F139Wfs*25 0 0 0.003 1 0 0 0.003 1 0 0 0 0 251887 chr1 228505163 228505163 A C rs771092865 OBSCN 0 0.003 0 0 0 1 0 0 0 0 0 0 18.44 251888 chr1 228550292 228550292 G A rs750338780 OBSCN Nonsynonymous SNV R6226Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.229 251889 chr1 230410239 230410239 C G rs149595757 GALNT2 Nonsynonymous SNV L459V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 251890 chr16 4810584 4810584 G A rs142352672 ZNF500 Synonymous SNV P223P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.987 251891 chr1 40929018 40929018 A G rs1014440963 ZFP69B Synonymous SNV K454K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.546 251892 chr10 123600630 123600630 G A ATE1 Nonsynonymous SNV S279L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 251893 chr1 231349591 231349591 C T rs200465476 TRIM67 Synonymous SNV T718T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 251894 chr1 12262188 12262188 C A rs758217163 TNFRSF1B Synonymous SNV A355A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.52 251895 chr1 12359379 12359379 T C VPS13D Synonymous SNV L2052L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.506 251896 chr1 234509172 234509172 T G rs896974155 COA6-AS1 0 0.005 0 0 0 2 0 0 0 0 0 0 3.366 251897 chr17 8139591 8139591 C T rs201553464 CTC1 Nonsynonymous SNV V288M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 251898 chr1 236711379 236711379 A C LGALS8 Nonsynonymous SNV K291T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 251899 chr10 131565096 131565096 A G rs757148901 MGMT Synonymous SNV G153G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.626 251900 chr1 51439929 51439929 C T rs148188896 CDKN2C Nonsynonymous SNV T165I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 251901 chr18 20815859 20815859 A G rs200376656 CABLES1 Nonsynonymous SNV T396A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 251902 chr1 54432047 54432047 C T rs139161536 LRRC42 Nonsynonymous SNV R336C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 251903 chr10 135122927 135122927 G A rs752611124 ZNF511 Nonsynonymous SNV D63N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 251904 chr10 135204872 135204872 C G rs146088141 PAOX Nonsynonymous SNV R431G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.3 251905 chr10 135272754 135272754 C T SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.197 251906 chr10 77161106 77161106 - CCGCCTCCGCCT ZNF503 G27_A28insGGGG 0.002 0 0 1 2 0 0.003 0 0 0 0 0 251907 chr18 31319710 31319710 C T rs201776257 ASXL3 Nonsynonymous SNV P781L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 23 251908 chr13 24797358 24797358 G A SPATA13 Synonymous SNV G97G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.162 251909 chr1 65306997 65306997 T G rs202179869 JAK1 Nonsynonymous SNV K860N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 251910 chr10 3181120 3181120 C A rs534536142 PITRM1 Nonsynonymous SNV A867S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 251911 chr10 3183907 3183907 C G rs748697442 PITRM1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.158 251912 chr10 35842009 35842009 G T rs373219386 CCNY Synonymous SNV R81R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.852 251913 chr13 45149851 45149851 C T rs760938493 TSC22D1 Synonymous SNV Q120Q 0.003 0 0 1 4 0 0.003 0 0 0 0 0 1.019 251914 chr18 51800431 51800431 G A rs759745970 POLI Nonsynonymous SNV R84H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 251915 chr1 27023256 27023256 - CGG rs951330386 ARID1A G127_S128insG 0 0.003 0 0 0 1 0 0 0 0 0 0 251916 chr18 55247314 55247314 G C rs150830931 FECH Nonsynonymous SNV P62R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.165 251917 chr16 19085331 19085331 T C rs376073960 COQ7 Nonsynonymous SNV L76S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 24.5 251918 chr18 57136795 57136795 C T rs139165727 CCBE1 Nonsynonymous SNV D104N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 251919 chr1 160323019 160323019 C T rs151131279 NCSTN Nonsynonymous SNV R253W 0 0.003 0 0 0 1 0 0 0 0 0 0 23 251920 chr10 60544789 60544789 A G rs372045739 BICC1 Synonymous SNV K112K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.127 251921 chr16 29912484 29912484 C T ASPHD1 Synonymous SNV A64A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 251922 chr16 89346838 89346838 T C rs200724087 ANKRD11 Nonsynonymous SNV K2038E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.67 251923 chr16 89628066 89628066 C A rs767866411 RPL13 Synonymous SNV S109S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 251924 chr1 169555582 169555582 C T rs9332485 F5 Nonsynonymous SNV G15S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 29.2 251925 chr16 31230822 31230822 G A rs117500936 TRIM72 Synonymous SNV P233P 0.001 0 0.003 4 1 0 0.01 1 0 0 0 0 11.37 251926 chr17 10356472 10356472 G A rs11868518 MYH4 Synonymous SNV D1036D 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 0.032 251927 chr18 9887599 9887599 C T rs771939779 TXNDC2 Nonsynonymous SNV P375S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 251928 chr10 75541920 75541920 A C CHCHD1 Synonymous SNV L29L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.978 251929 chr1 17281359 17281359 C T rs201779747 CROCC Nonsynonymous SNV S1151F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 251930 chr17 16346905 16346905 C T rs572491761 LRRC75A Synonymous SNV T344T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.97 251931 chr1 179076964 179076964 G A ABL2 Synonymous SNV S1125S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.163 251932 chr1 53559204 53559204 G A SLC1A7 Synonymous SNV S170S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.257 251933 chr19 12244669 12244669 C G rs777830510 ZNF20 Nonsynonymous SNV G108A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.08 251934 chr11 101375435 101375435 - AAACATGTATGC rs778276152 TRPC6 F88_S89insAYMF 0 0 0.003 0 0 0 0 1 0 0 0 0 251935 chr14 31771596 31771596 A G HEATR5A Nonsynonymous SNV L1790S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 251936 chr20 3766159 3766159 C T rs764715058 CENPB Synonymous SNV P324P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.54 251937 chr1 72076786 72076786 G A rs766797101 NEGR1 Synonymous SNV P237P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.804 251938 chr11 105950254 105950254 A T AASDHPPT Nonsynonymous SNV I82F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 251939 chr11 107880095 107880095 A G rs765326718 CUL5 Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.145 251940 chr19 17838759 17838759 A G MAP1S Nonsynonymous SNV T830A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.539 251941 chr11 111404530 111404530 G A rs61764071 C11orf88 Synonymous SNV S133S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 251942 chr14 56128266 56128266 G A rs139593506 KTN1 Nonsynonymous SNV S1009N 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 22.6 251943 chr19 19407973 19407973 C T rs377757146 SUGP1 Synonymous SNV S356S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 251944 chr20 57768203 57768203 A G ZNF831 Nonsynonymous SNV H710R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.6 251945 chr11 117310112 117310112 C T DSCAML1 Synonymous SNV G1338G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 251946 chr11 118754668 118754668 G C rs373785028 CXCR5 Synonymous SNV T6T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.097 251947 chr11 118771749 118771749 G A rs762143602 BCL9L Synonymous SNV T901T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.054 251948 chr16 89652120 89652120 G A rs969756587 CPNE7 Nonsynonymous SNV R236Q 0 0.003 0 3 0 1 0.008 0 0 0 0 0 28.3 251949 chr20 62065169 62065169 T C rs1038643289 KCNQ2 Nonsynonymous SNV M371V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.81 251950 chr11 124294219 124294219 G C rs771688571 OR8B4 Synonymous SNV L183L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.67 251951 chr11 124440160 124440160 A G OR8A1 Nonsynonymous SNV I49V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 251952 chr1 22816985 22816985 G T ZBTB40 Nonsynonymous SNV V182F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.42 251953 chr1 22903139 22903139 C T EPHA8 Nonsynonymous SNV L197F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.1 251954 chr15 101110321 101110321 C T LINS1 Nonsynonymous SNV G466R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.701 251955 chr20 34828371 34828371 G A rs201316006 AAR2 Nonsynonymous SNV R194Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.9 251956 chr1 245862248 245862248 C T rs201847058 KIF26B Synonymous SNV A2029A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.39 251957 chr17 56271130 56271130 C T rs148153010 EPX Synonymous SNV L134L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.973 251958 chr15 40247947 40247947 G T rs1047058357 EIF2AK4 Nonsynonymous SNV A241S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.036 251959 chr20 43726859 43726859 G C KCNS1 Nonsynonymous SNV S185C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 251960 chr11 45949502 45949502 C T rs11038713 LARGE2 Nonsynonymous SNV R546W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 251961 chr11 46679136 46679136 A G ATG13 Nonsynonymous SNV Y141C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 251962 chr20 50721693 50721693 G C ZFP64 Synonymous SNV A28A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.3 251963 chr11 47611870 47611870 G A rs920788819 C1QTNF4 Nonsynonymous SNV P165S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.466 251964 chr1 26662666 26662666 G A CRYBG2 Synonymous SNV G1368G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.86 251965 chr1 26662667 26662667 C A CRYBG2 Nonsynonymous SNV G1368V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 251966 chr1 26662854 26662854 T A CRYBG2 Nonsynonymous SNV E1349V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 251967 chr19 4511555 4511555 G A PLIN4 Nonsynonymous SNV A806V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 251968 chr19 46215471 46215471 G A rs769284170 FBXO46 Nonsynonymous SNV P428L 0.003 0 0 0 3 0 0 0 0 0 0 0 15.13 251969 chr17 72839659 72839659 G A rs1035269712 GRIN2C Nonsynonymous SNV L873F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 251970 chr1 40092192 40092192 A C HEYL Nonsynonymous SNV I325S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 251971 chr22 32257400 32257400 C T rs79027628 DEPDC5 Nonsynonymous SNV S1026L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 251972 chr1 247050628 247050628 G A AHCTF1 Nonsynonymous SNV S786F 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.9 251973 chr15 75130090 75130090 A C rs766513914 ULK3 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 251974 chr17 76415678 76415678 G A rs779345585 PGS1 Nonsynonymous SNV E535K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.94 251975 chr15 75969020 75969020 C T rs200474643 CSPG4 Nonsynonymous SNV R1947Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.086 251976 chr17 76497471 76497471 G C DNAH17-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.098 251977 chr11 56431691 56431691 T A rs150455002 OR5AR1 Nonsynonymous SNV F177Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 251978 chr17 78064048 78064048 A - CCDC40 T982Hfs*60 0.001 0.005 0 0 1 2 0 0 0 1 0 0 251979 chr17 78064051 78064081 ACGGGACGCGCGCGGGCACGTGCACGAACAA - CCDC40 R983Tfs*49 0.001 0.005 0 0 1 2 0 0 0 1 0 0 251980 chr1 54607008 54607008 G A rs747760888 CDCP2 Nonsynonymous SNV R176W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 251981 chr17 7918177 7918177 G T rs112372281 GUCY2D Synonymous SNV P859P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 2.103 251982 chr19 52130926 52130926 G A rs770315173 SIGLEC5 Synonymous SNV A357A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.433 251983 chr19 52147100 52147100 C G SIGLEC14 Nonsynonymous SNV G315A 0.002 0 0 0 2 0 0 0 0 0 0 0 23 251984 chr21 45213248 45213248 C T rs760895439 RRP1 Nonsynonymous SNV T108M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 251985 chr17 79660799 79660799 G A rs770884862 MIR6786 0.002 0 0 0 2 0 0 0 0 0 0 0 6.496 251986 chr17 80042462 80042462 C T rs778360804 FASN Synonymous SNV T1565T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.63 251987 chr1 60370655 60370655 G A rs764645502 CYP2J2 Nonsynonymous SNV P360L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 251988 chr21 46935755 46935755 C T rs758254807 SLC19A1 Synonymous SNV P491P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 251989 chr19 53086284 53086286 ACC - ZNF701 K324_P325delinsN 0.002 0 0 0 2 0 0 0 0 0 0 0 251990 chr19 53086288 53086292 TACAA - ZNF701 Y326Mfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 251991 chr19 53086293 53086293 A G rs977058170 ZNF701 Synonymous SNV K327K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.219 251992 chr1 3551839 3551839 G A WRAP73 Nonsynonymous SNV S208L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 251993 chr22 50765402 50765402 C T DENND6B Nonsynonymous SNV G6S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 251994 chr11 62558148 62558148 A G rs751224145 TMEM223 Nonsynonymous SNV F186L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 251995 chr1 8074145 8074145 C T ERRFI1 Nonsynonymous SNV E172K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 251996 chr11 64569572 64569572 C G rs35107642 MAP4K2 Nonsynonymous SNV R111P 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 251997 chr1 87025982 87025983 AC - rs770283490 CLCA4 I131Sfs*5 0 0.008 0 0 0 3 0 0 0 0 0 0 251998 chr1 881554 881554 C T rs147322750 NOC2L Nonsynonymous SNV R639Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 251999 chr16 1827851 1827851 G C rs1020238054 SPSB3 Nonsynonymous SNV D206E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 19.52 252000 chr11 65350742 65350742 C T rs370190023 EHBP1L1 Nonsynonymous SNV R867C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 252001 chr17 66972282 66972282 - A rs779274342 ABCA9 Frameshift insertion E1591Gfs*15 0 0 0 3 0 0 0.008 0 0 0 0 0 252002 chr11 65735217 65735217 G A rs114758666 SART1 Synonymous SNV L499L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 252003 chr11 66083082 66083082 G A rs369094926 CD248 Nonsynonymous SNV H473Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 252004 chr11 66392434 66392434 T G rs148119991 RBM14 Nonsynonymous SNV S363A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.312 252005 chr11 66468196 66468196 C T rs375601930 SPTBN2 Nonsynonymous SNV R1125Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.6 252006 chr16 2230315 2230315 C G rs1048192545 CASKIN1 Synonymous SNV R1018R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.097 252007 chr11 68193589 68193589 A G LRP5 Nonsynonymous SNV I610V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 252008 chr19 58067703 58067703 A G rs139899284 ZNF550 Nonsynonymous SNV V17A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 252009 chr16 28502855 28502855 G T rs752737552 CLN3 Nonsynonymous SNV L25I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.296 252010 chr2 152112185 152112185 G C RBM43 Nonsynonymous SNV L26V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 252011 chr2 157186202 157186202 C T NR4A2 Nonsynonymous SNV R166K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 252012 chr11 76255737 76255737 A G rs371340876 EMSY Synonymous SNV A1049A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.258 252013 chr11 76922892 76922892 C T rs188278264 MYO7A Synonymous SNV H2088H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.3 252014 chr16 3799643 3799643 G A rs771768342 CREBBP Nonsynonymous SNV T1236I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 252015 chr22 50671850 50671850 G A rs368083408 TUBGCP6 Synonymous SNV G337G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 252016 chr16 5083828 5083828 A G NAGPA-AS1, NAGPA 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.4 252017 chr11 92495148 92495148 C T rs529470178 FAT3 Nonsynonymous SNV R1266C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252018 chr16 57005908 57005908 C A rs201438792 CETP Nonsynonymous SNV S221R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 2.081 252019 chr19 12766585 12766585 G A rs764543590 MAN2B1 Nonsynonymous SNV R585C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.36 252020 chr12 101711347 101711347 G A rs766147135 UTP20 Nonsynonymous SNV E882K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.402 252021 chr12 104118804 104118804 - A rs748600213 STAB2 Frameshift insertion R1580Kfs*62 0 0 0.003 0 0 0 0 1 0 0 0 0 252022 chr1 977479 977479 T C rs746008311 AGRN Nonsynonymous SNV W441R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 18.29 252023 chr12 105531708 105531708 A G WASHC4 Synonymous SNV T458T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.645 252024 chr20 44472972 44472972 T C rs146722391 ACOT8 Synonymous SNV P192P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.11 252025 chr12 107114548 107114548 G A rs73391388 RFX4 Synonymous SNV K321K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.8 252026 chr11 100558591 100558591 A T rs777093736 LOC100128386 0 0.003 0 0 0 1 0 0 0 0 0 0 0.33 252027 chr20 49571818 49571818 T C rs778063616 DPM1 Nonsynonymous SNV I56V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.668 252028 chr2 196786839 196786839 A T DNAH7 Nonsynonymous SNV I1303N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 252029 chr2 197629315 197629315 G A rs143599816 GTF3C3 Nonsynonymous SNV T878M 0.002 0 0 0 2 0 0 0 0 0 0 0 6.203 252030 chr19 17836832 17836832 C T rs202224843 MAP1S Synonymous SNV Y187Y 0.002 0 0 0 2 0 0 0 0 0 0 0 6.167 252031 chr2 202939808 202939808 C T KIAA2012 Synonymous SNV Y93Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 252032 chr12 121125141 121125141 C T rs181506797 MLEC Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.53 252033 chr20 57829316 57829316 C T rs369224247 ZNF831 Stop gain Q1518X 0 0.003 0 0 0 1 0 0 0 0 0 0 33 252034 chr2 203167738 203167738 A G rs372235374 NOP58 Synonymous SNV E499E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 252035 chr2 141816551 141816551 C T rs145931578 LRP1B Nonsynonymous SNV V437I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.52 252036 chr12 123344732 123344732 A G rs992978126 HIP1R Nonsynonymous SNV Q845R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 252037 chr16 818461 818461 G A rs547730247 MSLN Nonsynonymous SNV R568Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 19.44 252038 chr12 123983261 123983261 G A RILPL1 Nonsynonymous SNV R211W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252039 chr12 124097762 124097762 C T rs148148585 DDX55 Nonsynonymous SNV R263C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27 252040 chr20 61537181 61537181 A C rs139422855 DIDO1 Nonsynonymous SNV I549S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.033 252041 chr12 127229630 127229630 C T rs545752098 LINC00943 0 0 0.003 0 0 0 0 1 0 0 0 0 3.824 252042 chr2 167288968 167288968 C A rs142836858 SCN7A Nonsynonymous SNV A818S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.84 252043 chr20 31660568 31660568 A G rs200749582 BPIFB3 Nonsynonymous SNV N457S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.451 252044 chr12 132633186 132633186 C G NOC4L Synonymous SNV L257L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.722 252045 chr2 170147401 170147401 G A rs201503356 LRP2 Synonymous SNV C292C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 6.03 252046 chr11 122850089 122850089 G A BSX Synonymous SNV A113A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 252047 chr12 133312095 133312095 C G ANKLE2 Nonsynonymous SNV E533Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 252048 chr1 14105110 14105110 G A PRDM2 Nonsynonymous SNV E73K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 252049 chr18 72997855 72997861 GTCAGCA - TSHZ1 V165Pfs*95 0 0 0 2 0 0 0.005 0 0 0 0 0 252050 chr18 74153703 74153703 G A rs775995560 ZNF516 Synonymous SNV Y436Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.965 252051 chr18 77477972 77477972 - CCCTCCAGCT CTDP1 Frameshift insertion P678Qfs*25 0 0 0 2 0 0 0.005 0 0 0 0 0 252052 chr12 21030827 21030827 G A rs149072672 SLCO1B3, SLCO1B3-SLCO1B7 Synonymous SNV E336E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.215 252053 chr1 150526378 150526378 C T rs773510504 ADAMTSL4 Nonsynonymous SNV S304L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.746 252054 chr11 124623814 124623814 A T rs770296401 ESAM Nonsynonymous SNV S301T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 252055 chr2 179621227 179621227 G A rs745878715 TTN Nonsynonymous SNV A3488V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.629 252056 chr12 29649589 29649589 C T rs201067443 OVCH1 Nonsynonymous SNV R28H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.057 252057 chr2 179699056 179699057 AT - CCDC141 Y1479Cfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 252058 chr20 43251681 43251681 G A rs748671151 ADA Synonymous SNV A80A 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Likely benign 8.371 252059 chr11 129321213 129321213 T C rs759249365 BARX2 Synonymous SNV R252R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.031 252060 chr12 369144 369144 C T SLC6A13 Synonymous SNV E25E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.194 252061 chr2 186672146 186672146 A G rs199575342 FSIP2 Nonsynonymous SNV D6038G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 252062 chr12 48134728 48134728 G A rs148525602 RAPGEF3 Synonymous SNV H631H 0 0 0.007 0 0 0 0 2 0 0 0 0 5.162 252063 chr2 190719309 190719309 G A rs55726197 PMS1 Synonymous SNV Q261Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 252064 chr21 43783512 43783512 C T rs377111345 TFF1 Synonymous SNV T30T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.947 252065 chr2 200710833 200710833 G C FTCDNL1 Stop gain S59X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 252066 chr19 40331335 40331335 C T FBL Nonsynonymous SNV G35S 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 252067 chr2 209198209 209198209 G A rs760133678 PIKFYVE Synonymous SNV A1378A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.74 252068 chr1 160811635 160811635 G T rs776754632 CD244 Nonsynonymous SNV Q40K 0.002 0 0 0 2 0 0 0 0 0 0 0 2.748 252069 chr19 44271739 44271739 G T KCNN4 Nonsynonymous SNV L414M 0.003 0 0 0 3 0 0 0 0 0 0 0 17.41 252070 chr2 27356180 27356180 T C rs148227174 PREB Synonymous SNV Q45Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.113 252071 chr22 23237752 23237752 G A rs201956362 IGLL5 Nonsynonymous SNV A100T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.511 252072 chr12 6103274 6103274 G A rs200719767 VWF Nonsynonymous SNV R2118W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 252073 chr17 37686861 37686863 TCC - rs761267090 CDK12 P1257del 0.001 0 0 0 1 0 0 0 0 0 0 0 252074 chr12 71286499 71286499 A T rs142559906 PTPRR Nonsynonymous SNV V106E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 252075 chr12 72028081 72028081 A T rs138119893 ZFC3H1 Synonymous SNV R788R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.36 252076 chr19 47569691 47569691 G T rs142249528 ZC3H4 Synonymous SNV R1278R 0.003 0 0 0 3 0 0 0 0 0 0 0 5.539 252077 chr12 72090284 72090284 T A rs143199994 TMEM19 Nonsynonymous SNV L105M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.2 252078 chr19 47935524 47935524 G A rs150808359 SLC8A2 Synonymous SNV T763T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.99 252079 chr1 180804066 180804066 G A rs149200588 XPR1 Synonymous SNV A397A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.04 252080 chr22 37524662 37524662 G C rs149497090 IL2RB Nonsynonymous SNV A377G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 252081 chr2 56420369 56420369 G T rs200423664 CCDC85A Nonsynonymous SNV G345V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 252082 chr2 60773269 60773269 G A rs764771964 BCL11A Synonymous SNV S74S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 7.224 252083 chr2 234749377 234749377 G C rs17868365 HJURP Synonymous SNV P598P 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 3.705 252084 chr12 92382917 92382917 C T rs184735718 LINC01619 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 4.85 252085 chr12 52772023 52772023 C A rs143783083 KRT84 Nonsynonymous SNV S533I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 252086 chr2 238280504 238280504 C T rs146092501 COL6A3 Nonsynonymous SNV E779K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 252087 chr12 96350649 96350649 G A rs763890532 AMDHD1 Nonsynonymous SNV E166K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252088 chr19 50028785 50028785 G A rs748189145 FCGRT Nonsynonymous SNV V315I 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 4.54 252089 chr19 51009702 51009702 C T rs369537414 JOSD2 Nonsynonymous SNV G92S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 252090 chr2 242054538 242054538 C T rs756661701 PASK Nonsynonymous SNV G1085S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 252091 chr19 51512589 51512589 C A rs752120360 KLK9 Nonsynonymous SNV G17V 0.003 0 0 0 3 0 0 0 0 0 0 0 13.81 252092 chr2 242650884 242650884 C T rs142180451 ING5 Synonymous SNV S123S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 252093 chr13 111287922 111287922 C G rs750379005 NAXD Synonymous SNV S143S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.079 252094 chr1 201837828 201837828 T C rs200854878 IPO9 Synonymous SNV I636I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.09 252095 chr13 114545703 114545703 T C rs528591365 GAS6-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.38 252096 chr13 20763361 20763363 CTC - rs80338947 GJB2 E120del 0 0 0.003 0 0 0 0 1 0 0 0 0 252097 chr13 23471573 23471573 G C BASP1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.567 252098 chr2 38523647 38523647 T C ATL2 Nonsynonymous SNV N407S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.283 252099 chr13 32930688 32930688 G C rs80358982 BRCA2 Nonsynonymous SNV R2520P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 252100 chr3 111805346 111805346 C T rs377543671 C3orf52 Nonsynonymous SNV A31V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 252101 chr2 47643513 47643513 C G rs748115066 MSH2 Nonsynonymous SNV L341V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.7 252102 chr2 55539578 55539578 T C rs142831465 CCDC88A Synonymous SNV R1356R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.827 252103 chr13 50123750 50123750 T A RCBTB1 Nonsynonymous SNV T297S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.7 252104 chr2 62069343 62069343 T - FAM161A K112Nfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 252105 chr2 62081126 62081126 G C FAM161A Synonymous SNV T17T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.064 252106 chr13 76393582 76393582 G - LMO7 E382Kfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 252107 chr2 70528063 70528063 G A rs148232572 FAM136A Nonsynonymous SNV S153F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.9 252108 chr2 135206256 135206256 G A rs748894740 MGAT5 Synonymous SNV K688K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.63 252109 chr22 46932653 46932653 A G rs759467955 CELSR1 Nonsynonymous SNV C139R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.055 252110 chr14 104173473 104173473 C T XRCC3 Synonymous SNV A91A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 252111 chr2 74643011 74643011 T A rs375582922 C2orf81 Nonsynonymous SNV Q3L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 252112 chr2 152484260 152484260 A G rs764261051 NEB Nonsynonymous SNV M3064T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 252113 chr19 35757431 35757431 C T rs745538204 LSR Synonymous SNV S256S 0 0.003 0 3 0 1 0.008 0 0 0 0 0 10.41 252114 chr19 5785400 5785400 C T rs780921432 DUS3L Nonsynonymous SNV R383H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 252115 chr1 228550393 228550393 G A OBSCN Nonsynonymous SNV G6260R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.395 252116 chr2 97363468 97363468 G A FER1L5 Synonymous SNV K1402K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.174 252117 chr3 100058048 100058048 C T rs189197057 NIT2 Nonsynonymous SNV P42L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 252118 chr3 100535582 100535582 C T rs949304072 ABI3BP Nonsynonymous SNV R926H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 252119 chr1 235973822 235973822 G A rs781295135 LYST Nonsynonymous SNV P99L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23 252120 chr19 7122701 7122701 G A rs748762376 INSR Synonymous SNV N1139N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.393 252121 chr2 178097304 178097304 G A rs763097686 NFE2L2 Nonsynonymous SNV S107L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 252122 chr1 236917337 236917337 G A rs146164600 ACTN2 Nonsynonymous SNV A644T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.7 252123 chr17 7752307 7752307 C T rs764195526 KDM6B Nonsynonymous SNV P901S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.09 252124 chr3 120352100 120352117 CCCCCTGGCAGGAACCCA - HGD F357_G362del 0 0.003 0 0 0 1 0 0 0 0 0 0 252125 chr14 38061517 38061517 C G rs771653601 FOXA1 Nonsynonymous SNV D158H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 252126 chr19 42852513 42852513 G A MEGF8 Nonsynonymous SNV M729I 0 0.003 0 3 0 1 0.008 0 0 0 0 0 20.2 252127 chr14 39584119 39584119 T G GEMIN2 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 252128 chr14 50177082 50177082 C T KLHDC1 Synonymous SNV C129C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 252129 chr14 58953837 58953837 C T rs772256006 KIAA0586 Nonsynonymous SNV S946L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252130 chr19 45322432 45322432 A G rs199600463 BCAM Nonsynonymous SNV S486G 0 0.003 0 3 0 1 0.008 0 0 0 0 0 24.8 252131 chr13 47243186 47243186 G A rs564905243 LRCH1 Synonymous SNV L158L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.13 252132 chr14 61517275 61517275 C T SLC38A6 Nonsynonymous SNV S324L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 252133 chr14 63269249 63269249 T C rs115435938 KCNH5 Synonymous SNV L540L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 7.233 252134 chr1 100624961 100624961 G A rs201723295 LRRC39 Nonsynonymous SNV S77F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 252135 chr14 69701469 69701469 T C EXD2 Nonsynonymous SNV L132P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 252136 chr14 74972877 74972877 G A LTBP2 Nonsynonymous SNV L1351F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 252137 chr14 75022294 75022294 A G LTBP2 Synonymous SNV S311S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.709 252138 chr14 75538198 75538198 C T rs200485258 ZC2HC1C Nonsynonymous SNV R308W 0 0 0.003 0 0 0 0 1 0 0 0 0 8.07 252139 chr2 21237438 21237438 A T rs200261177 APOB Nonsynonymous SNV S1242T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.006 252140 chr2 214013321 214013321 C T rs143973365 IKZF2 Synonymous SNV T11T 0 0.003 0 3 0 1 0.008 0 0 0 0 0 16.98 252141 chr19 49965243 49965243 G C ALDH16A1 Nonsynonymous SNV D288H 0 0 0 4 0 0 0.01 0 0 0 0 0 24.9 252142 chr1 3712440 3712440 G A rs773814809 LRRC47 Synonymous SNV L201L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.363 252143 chr19 50265282 50265282 G A rs371583588 TSKS Synonymous SNV D126D 0 0 0 4 0 0 0.01 0 0 0 0 0 6.692 252144 chr1 114442885 114442885 A G rs141417436 AP4B1 Nonsynonymous SNV V84A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.21 252145 chr1 114948193 114948193 G A TRIM33 Synonymous SNV H869H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.327 252146 chr1 11718390 11718390 G A rs138412784 FBXO44 Nonsynonymous SNV R111Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.34 252147 chr2 220043687 220043687 G A RETREG2 Nonsynonymous SNV V109I 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 10.44 252148 chr14 96730072 96730072 T C rs372076696 BDKRB1 Nonsynonymous SNV L18P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 252149 chr1 45115360 45115360 G A rs112706024 RNF220 Synonymous SNV T278T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.47 252150 chr1 45223255 45223255 A G rs117192754 KIF2C Synonymous SNV T294T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.073 252151 chr1 45225012 45225012 C T rs79264556 KIF2C Synonymous SNV S412S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 252152 chr1 45266592 45266592 C T rs41311199 PLK3 Synonymous SNV R97R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 252153 chr1 45295676 45295676 A G rs147627670 PTCH2 Synonymous SNV S280S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.007 252154 chr1 45475886 45475886 C T rs41269097 HECTD3 Nonsynonymous SNV V204I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 252155 chr1 45476368 45476368 G C rs200038150 HECTD3 Nonsynonymous SNV A127G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 252156 chr1 45479439 45479439 G A rs2234479 UROD Synonymous SNV P150P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.77 252157 chr1 1326155 1326155 C T rs931374562 CCNL2 Synonymous SNV R28R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 252158 chr15 102389754 102389754 C T rs201009662 OR4F13P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.422 252159 chr15 23890185 23890185 G C MAGEL2 Nonsynonymous SNV T902R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.405 252160 chr15 25330619 25330619 G T rs768424347 SNORD116-18 0 0 0.003 0 0 0 0 1 0 0 0 0 6.685 252161 chr1 150432636 150432636 A G rs781879488 RPRD2 Synonymous SNV P392P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.477 252162 chr1 150971898 150971898 C T rs751532553 MINDY1 Nonsynonymous SNV E168K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 252163 chr3 193132381 193132381 C T rs116128694 ATP13A4 Nonsynonymous SNV V1001M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.882 252164 chr19 55179463 55179463 T C LILRB4 Nonsynonymous SNV I477T 0 0 0 3 0 0 0.008 0 0 0 0 0 19.5 252165 chr15 41643273 41643273 A G rs750550611 NUSAP1 Nonsynonymous SNV K109E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 252166 chr14 50307447 50307447 A G rs765272272 NEMF Synonymous SNV L165L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.894 252167 chr15 42442833 42442833 C G rs749775491 PLA2G4F Nonsynonymous SNV E248D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.617 252168 chr15 42695123 42695123 C T rs199884116 CAPN3 Synonymous SNV I44I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.04 252169 chr3 196387875 196387875 G C rs148343478 NRROS Nonsynonymous SNV S454T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 252170 chr15 48802327 48802327 T C FBN1 Nonsynonymous SNV N543S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 252171 chr15 50916399 50916399 G C TRPM7 Nonsynonymous SNV F468L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 252172 chr2 27292982 27292982 C T rs778181585 AGBL5 Nonsynonymous SNV R838W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 252173 chr3 66436481 66436481 G A rs772760175 LRIG1 Synonymous SNV H571H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.367 252174 chr3 39141983 39141983 C T rs746576942 GORASP1 Nonsynonymous SNV G98D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 252175 chr3 8609274 8609274 A C rs750765610 LMCD1 Nonsynonymous SNV K290T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.887 252176 chr15 66621343 66621343 C T rs774385116 DIS3L Nonsynonymous SNV A620V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 252177 chr1 160143962 160143962 G C rs144428770 ATP1A4 Nonsynonymous SNV D685H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.2 252178 chr15 72186069 72186069 T C rs150726107 MYO9A Nonsynonymous SNV D1698G 0 0.005 0.01 0 0 2 0 3 0 0 0 0 Pathogenic 9.8 252179 chr15 72189894 72189894 A C rs537565783 MYO9A Synonymous SNV T1650T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 252180 chr2 48713784 48713784 T C rs372144463 PPP1R21 Nonsynonymous SNV Y445H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 28.7 252181 chr15 75042108 75042108 C T rs372412769 CYP1A2 Nonsynonymous SNV S10L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 252182 chr20 10279970 10279970 C T rs201639889 SNAP25 Synonymous SNV S154S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.29 252183 chr2 238249708 238249708 G A COL6A3 Synonymous SNV D2010D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 8.507 252184 chr14 81251792 81251792 C T rs147770238 CEP128 Nonsynonymous SNV R553H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 252185 chr15 78921939 78921939 G A rs78159111 CHRNB4 Synonymous SNV T236T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.251 252186 chr15 79229745 79229745 C T rs9806439 CTSH Synonymous SNV T48T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.28 252187 chr3 49067965 49067965 C T QRICH1 Nonsynonymous SNV G751R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 252188 chr15 79284083 79284083 C T rs772888177 RASGRF1 Synonymous SNV A259A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 252189 chr14 90756838 90756838 A G NRDE2 Synonymous SNV P652P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.461 252190 chr1 169437890 169437890 C T rs61049753 SLC19A2 Synonymous SNV T204T 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 Benign/Likely benign 13.41 252191 chr20 6751045 6751045 G T BMP2 Nonsynonymous SNV G91V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.1 252192 chr15 88678363 88678363 G A rs192499700 NTRK3 Synonymous SNV I391I 0 0 0.007 0 0 0 0 2 0 0 0 0 11.64 252193 chr15 89400507 89400527 CTGACCTCAGTGGGCTTCCTT - rs563535889 ACAN D1565_S1571del 0 0 0.003 0 0 0 0 1 0 0 0 0 252194 chr2 74902299 74902299 A G SEMA4F Nonsynonymous SNV N232S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 252195 chr19 21240116 21240116 A G rs377093249 ZNF430 Synonymous SNV T333T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.04 252196 chr3 69151026 69151026 C T ARL6IP5 Synonymous SNV I71I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.48 252197 chr19 3057713 3057713 G A TLE5 Synonymous SNV A51A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.05 252198 chr20 34085845 34085845 G A rs143620499 CEP250 Nonsynonymous SNV E570K 0.002 0 0 0 2 0 0 0 0 0 0 0 33 252199 chr20 34085846 34085846 A T rs143997480 CEP250 Nonsynonymous SNV E570V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 252200 chr4 155157977 155157977 A G rs141221497 DCHS2 Synonymous SNV Y2609Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.002 252201 chr16 14766479 14766479 C T rs140187592 PLA2G10 Synonymous SNV S161S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 252202 chr3 111603493 111603493 C T rs148748786 PHLDB2 Nonsynonymous SNV P190L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.164 252203 chr4 159790352 159790352 C G rs148397580 FNIP2 Nonsynonymous SNV P501R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.038 252204 chr3 113327301 113327301 C T rs149502056 SIDT1 Synonymous SNV Y484Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.15 252205 chr16 2087937 2087937 G A rs200378795 SLC9A3R2 Synonymous SNV A211A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.454 252206 chr1 201465426 201465426 C T rs754308439 CSRP1 Synonymous SNV P2P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.11 252207 chr4 1825441 1825441 A G rs748715518 LETM1 Nonsynonymous SNV M421T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 252208 chr16 27460020 27460020 G A rs56148525 IL21R Nonsynonymous SNV G345S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.398 252209 chr16 2764281 2764281 G A rs151003597 PRSS27 Nonsynonymous SNV P98L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 252210 chr16 3023184 3023184 C T rs756537778 PKMYT1 Nonsynonymous SNV R379Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 252211 chr19 38573442 38573442 C G SIPA1L3 Nonsynonymous SNV Q413E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.866 252212 chr20 57766887 57766887 C T rs369672507 ZNF831 Synonymous SNV S271S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.688 252213 chr19 39056181 39056181 G A rs1051206491 RYR1 Nonsynonymous SNV A4398T 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Uncertain significance 18.12 252214 chr16 3139420 3139420 C T rs762381484 ZSCAN10 Nonsynonymous SNV R278H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 252215 chr4 148594177 148594177 C T rs73853975 PRMT9 Nonsynonymous SNV E113K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 252216 chr3 126137966 126137966 G A rs78086677 CFAP100 Nonsynonymous SNV R233Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.98 252217 chr3 126193959 126193959 A G rs371979552 ZXDC Synonymous SNV T250T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.163 252218 chr4 2939802 2939802 G A rs183430079 NOP14-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.723 252219 chr16 4385294 4385294 C T rs368985225 GLIS2 Synonymous SNV H225H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.08 252220 chr4 154508940 154508940 A C rs199974231 TMEM131L Nonsynonymous SNV Y510S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 252221 chr19 41066112 41066112 G A rs143517137 SPTBN4 Synonymous SNV A582A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.02 252222 chr3 12977088 12977088 C T rs3732685 IQSEC1 Synonymous SNV S476S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.96 252223 chr16 4911079 4911079 G A rs140546289 UBN1 Synonymous SNV E362E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 252224 chr16 50750505 50750505 G A rs61755272 NOD2 Nonsynonymous SNV D797N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 15.76 252225 chr4 16010652 16010652 T C PROM1 Synonymous SNV S398S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.428 252226 chr4 47574973 47574973 C T rs778911658 ATP10D Nonsynonymous SNV R1109W 0.001 0 0 0 1 0 0 0 0 0 0 0 30 252227 chr21 17135220 17135220 C G rs144168951 USP25 Nonsynonymous SNV T19R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 252228 chr15 73415080 73415080 C T rs148761830 NEO1 Synonymous SNV C221C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 11.22 252229 chr15 75499974 75499976 TCT - rs752015110 C15orf39 S529del 0 0.003 0 0 0 1 0 0 0 0 0 0 252230 chr15 75499978 75499995 CCACAGCTGAGCCTGACT - rs755456527 C15orf39 T531_S536del 0 0.003 0 0 0 1 0 0 0 0 0 0 252231 chr15 75702498 75702498 G A rs139503359 SIN3A Synonymous SNV L380L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.34 252232 chr16 66995239 66995239 G C CES3 Nonsynonymous SNV G10A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 252233 chr16 67380262 67380262 A C rs142897451 LRRC36 Nonsynonymous SNV E101A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 252234 chr3 148857965 148857965 C T rs577273287 HPS3 Nonsynonymous SNV P131L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 32 252235 chr16 67472476 67472476 G A rs778946445 ATP6V0D1 Synonymous SNV A337A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.47 252236 chr16 67691339 67691339 C G rs779617633 CARMIL2 Nonsynonymous SNV P1409R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.93 252237 chr15 81565448 81565448 C T rs771036402 IL16 Synonymous SNV I231I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.29 252238 chr3 153840816 153840816 A G ARHGEF26 Synonymous SNV K345K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.211 252239 chr3 156411939 156411939 T C TIPARP Nonsynonymous SNV F350L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 252240 chr16 70789961 70789961 C T VAC14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.733 252241 chr1 23219414 23219414 C T EPHB2 Nonsynonymous SNV P489L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 252242 chr4 74864214 74864214 - CAG rs773853710 CXCL5 L28_T29insL 0.001 0 0 0 1 0 0 0 0 0 0 0 252243 chr16 75203329 75203329 C T rs369812291 ZFP1 Synonymous SNV D74D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.288 252244 chr4 7731382 7731382 G C rs765005151 SORCS2 Synonymous SNV L1017L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.126 252245 chr3 183490222 183490222 G T rs116616592 YEATS2 Nonsynonymous SNV V693L 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 10.11 252246 chr4 37636666 37636666 C T rs763387307 RELL1 Nonsynonymous SNV V175I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.033 252247 chr4 38053604 38053604 C T rs546203555 TBC1D1 Synonymous SNV S665S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.71 252248 chr16 816790 816790 C T rs368019459 MSLN Synonymous SNV S459S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 252249 chr16 83998952 83998952 C T rs142802229 OSGIN1 Synonymous SNV P258P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 252250 chr16 84270897 84270897 C G rs142596437 KCNG4 Synonymous SNV V65V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.434 252251 chr21 47423713 47423713 C A rs763228065 COL6A1 Nonsynonymous SNV A958D 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 Uncertain significance 24.4 252252 chr21 46951373 46951373 G A rs760788584 SLC19A1 Synonymous SNV N253N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.77 252253 chr16 84797768 84797768 G T USP10 Nonsynonymous SNV E577D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 252254 chr16 85696615 85696615 C T rs146498039 GSE1 Synonymous SNV Y659Y 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.684 252255 chr16 87764228 87764228 G A rs367777769 KLHDC4 Nonsynonymous SNV R120W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 252256 chr3 193032088 193032088 A C ATP13A5-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 3.54 252257 chr1 247464289 247464291 CTC - rs758879840 ZNF496 E432del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 252258 chr4 956280 956280 C T rs140127004 DGKQ Synonymous SNV L719L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.04 252259 chr22 21384111 21384111 G A rs188843445 SLC7A4 Synonymous SNV H504H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.897 252260 chr22 21384276 21384276 G A rs559055973 SLC7A4 Synonymous SNV H449H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 252261 chr22 21384318 21384318 C A rs147415362 SLC7A4 Nonsynonymous SNV Q435H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.634 252262 chr22 21384334 21384348 GGGCCAGGGCTGGCT - rs376677130 SLC7A4 A426_P430del 0.001 0 0 0 1 0 0 0 0 0 0 0 252263 chr16 89712464 89712464 C T rs368448623 CHMP1A Nonsynonymous SNV R194H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.266 252264 chr16 89777196 89777196 C A VPS9D1 Synonymous SNV T352T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 252265 chr16 89784287 89784290 CACG - VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 252266 chr16 89784292 89784320 CCAGGGGCTCCCCCGACCTCTGTGATCCC - VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 252267 chr16 89784431 89784431 G C rs4012954 VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 252268 chr16 89882977 89882977 C T rs908258968 FANCA Nonsynonymous SNV G16E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 252269 chr22 26423579 26423579 G C rs117042106 MYO18B Nonsynonymous SNV E2548Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.7 252270 chr22 29736660 29736660 A G rs2228323 AP1B1 Synonymous SNV G661G 0.003 0 0.007 0 3 0 0 2 0 0 1 0 14.26 252271 chr22 31521132 31521132 C T rs949456313 INPP5J Nonsynonymous SNV T136M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 252272 chr17 1953287 1953287 G A rs754533031 MIR132 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 252273 chr17 19823371 19823371 T C AKAP10 Synonymous SNV E546E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.081 252274 chr1 3380217 3380217 G A rs187419731 ARHGEF16 Nonsynonymous SNV R190Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.76 252275 chr4 89711752 89711752 A T rs766524177 FAM13A Nonsynonymous SNV V19E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 252276 chr17 2280030 2280030 C T rs140563173 SGSM2 Synonymous SNV Y826Y 0.002 0 0.007 2 2 0 0.005 2 0 0 0 0 16.8 252277 chr22 42793921 42793921 G A rs765391255 NFAM1 Nonsynonymous SNV P165S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.836 252278 chr1 43212992 43212992 C T rs578161008 P3H1 Nonsynonymous SNV R669H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 35 252279 chr17 33266229 33266229 G A rs755333614 CCT6B Nonsynonymous SNV R359C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 252280 chr1 43805093 43805093 T C rs17572791 MPL Synonymous SNV G181G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 0.49 252281 chr1 43894042 43894042 T C rs72883814 SZT2 Nonsynonymous SNV W1294R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 4.099 252282 chr1 44132744 44132744 C T rs78418435 KDM4A Synonymous SNV Y299Y 0.003 0 0 0 3 0 0 0 0 0 0 0 14.71 252283 chr1 44422367 44422367 A G rs36061711 IPO13 Synonymous SNV T366T 0.004 0 0 0 5 0 0 0 0 0 0 0 0.004 252284 chr5 114598516 114598516 C T rs367555256 PGGT1B Synonymous SNV G11G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 252285 chr1 46027477 46027477 C T rs61733010 AKR1A1 Nonsynonymous SNV S4F 0.003 0 0 0 3 0 0 0 0 0 0 0 24 252286 chr1 46086588 46086588 T C rs16832629 CCDC17 Nonsynonymous SNV N529S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 252287 chr17 3475525 3475525 C A TRPV1 Nonsynonymous SNV D708Y 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252288 chr5 149755293 149755293 T C rs111705180 TCOF1 Synonymous SNV L495L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.148 252289 chr17 34951609 34951609 A G rs772013706 DHRS11 Nonsynonymous SNV N119S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 252290 chr1 46650045 46650045 T G rs35000902 TSPAN1 Synonymous SNV T80T 0.003 0 0 0 3 0 0 0 0 0 0 0 4.951 252291 chr1 47134060 47134060 C T rs562789171 ATPAF1 Nonsynonymous SNV E2K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 252292 chr22 50727462 50727462 G A rs758310101 PLXNB2 Nonsynonymous SNV T393M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 252293 chr22 50961304 50961304 C T rs751567124 NCAPH2 Nonsynonymous SNV R495C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 252294 chr5 154291442 154291442 C T rs375067739 GEMIN5 Nonsynonymous SNV R670Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.02 252295 chr5 131877752 131877752 T C IL5 Synonymous SNV L87L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.235 252296 chr5 132440030 132440030 C A rs758859168 HSPA4 Nonsynonymous SNV Q809K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 252297 chr5 134669769 134669769 G A rs536881569 C5orf66 0 0.003 0 0 0 1 0 0 0 0 0 0 6.658 252298 chr3 65365008 65365008 G A MAGI1 Nonsynonymous SNV R975C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 252299 chr1 6166518 6166518 G A CHD5 Nonsynonymous SNV R1932W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 252300 chr3 7620341 7620341 A T GRM7 Nonsynonymous SNV K583I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.1 252301 chr16 67331547 67331547 G A rs750253554 KCTD19 Nonsynonymous SNV R336W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 252302 chr5 179044809 179044809 G A HNRNPH1 Synonymous SNV D252D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.14 252303 chr2 122485389 122485389 G A rs540898996 NIFK Stop gain Q265X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 252304 chr16 71604727 71604727 G A rs199774720 TAT Nonsynonymous SNV S256L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 252305 chrX 48546778 48546778 T C rs781855402 WAS Synonymous SNV L289L 0 0 0 3 0 0 0.008 0 0 0 0 1 Likely benign 2.312 252306 chrX 48924736 48924736 G A rs782090494 CCDC120 Synonymous SNV Q362Q 0 0 0 3 0 0 0.008 0 0 0 0 1 0.679 252307 chrX 49063300 49063300 C T CACNA1F Nonsynonymous SNV E1750K 0 0 0 3 0 0 0.008 0 0 0 0 1 Uncertain significance 20.5 252308 chr1 84876531 84876531 G A rs755032129 DNASE2B Synonymous SNV L132L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.24 252309 chr1 85031526 85031526 G A rs757159462 CTBS Nonsynonymous SNV T232I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.33 252310 chr17 4642141 4642141 C T rs371670800 CXCL16 Nonsynonymous SNV V71I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 252311 chrX 74670583 74670583 C A rs764335966 ZDHHC15 Nonsynonymous SNV A136S 0 0 0 3 0 0 0.008 0 0 0 0 1 6.61 252312 chr17 48540537 48540537 G A ACSF2 Synonymous SNV K111K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 252313 chr17 5117461 5117461 C T rs114709609 LOC100130950 0 0 0.003 0 0 0 0 1 0 0 0 0 4.564 252314 chr17 5291230 5291230 A C NUP88 Nonsynonymous SNV F562L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.538 252315 chr17 53852169 53852169 C T rs201740174 PCTP Synonymous SNV F104F 0 0 0.003 0 0 0 0 1 0 0 0 0 18 252316 chr4 145640064 145640064 C T rs201351386 HHIP Synonymous SNV T572T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.92 252317 chr17 60043929 60043929 T C rs76432344 MED13 Synonymous SNV K1425K 0 0 0.007 0 0 0 0 2 0 0 0 0 7.792 252318 chr2 176972314 176972314 C T HOXD11 Synonymous SNV G77G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.6 252319 chr2 17906608 17906608 C T rs144198428 SMC6 Synonymous SNV T214T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 252320 chr2 179528787 179528787 C T rs750767047 TTN Nonsynonymous SNV V12107M 0.002 0 0 0 2 0 0 0 0 0 0 0 8.609 252321 chr4 169611851 169611851 G A rs201816881 PALLD Nonsynonymous SNV G96E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26 252322 chr17 6903765 6903765 G A ALOX12 Synonymous SNV E306E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.941 252323 chr17 72346712 72346712 C T rs147238299 KIF19 Synonymous SNV A462A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.573 252324 chr4 186381190 186381192 ATT - rs758955633 CCDC110 I148del 0 0.003 0 0 0 1 0 0 0 0 0 0 252325 chr20 31627196 31627196 T C BPIFB6 Nonsynonymous SNV I315T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 252326 chr17 73502433 73502433 C T rs781650363 CASKIN2 Nonsynonymous SNV E145K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 252327 chr5 59189324 59189324 C A rs368880986 PDE4D Synonymous SNV P42P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.68 252328 chr20 33583244 33583246 GAG - rs757776254 MYH7B E980del 0.002 0 0 0 2 0 0 0 0 0 0 0 252329 chr1 12032953 12032953 G A rs149425237 PLOD1 Nonsynonymous SNV V643I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 252330 chr17 5015306 5015306 G T rs1003618734 LOC101928000 0 0 0 2 0 0 0.005 0 0 0 0 1 6.91 252331 chr6 129833538 129833538 T C rs139863980 LAMA2 Nonsynonymous SNV L2959P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 252332 chr1 15545982 15545982 G T TMEM51 Stop gain E169X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 252333 chr6 132206094 132206094 A C rs1805138 ENPP1 Nonsynonymous SNV T779P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 252334 chr2 215910585 215910585 A G rs543778192 ABCA12 Nonsynonymous SNV F283S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 252335 chr4 493184 493184 C T PIGG Synonymous SNV I20I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.61 252336 chr5 80553637 80553637 A C CKMT2 Nonsynonymous SNV K281Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.59 252337 chr4 53610150 53610150 C T rs769662089 ERVMER34-1 Nonsynonymous SNV R513H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.91 252338 chr4 54362332 54362332 T C rs112295046 LNX1 Nonsynonymous SNV E307G 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.3 252339 chr1 17312585 17312585 C A rs755686764 ATP13A2 Synonymous SNV P1124P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.337 252340 chr17 8138526 8138526 G A rs751503167 CTC1 Synonymous SNV A428A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 252341 chr5 96103633 96103633 C G rs747618954 CAST Nonsynonymous SNV P596R 0 0.005 0 0 0 2 0 0 0 0 0 0 28 252342 chr6 152652490 152652490 G A SYNE1 Stop gain R4373X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 252343 chr4 70823145 70823145 G A rs753335299 CSN2 Synonymous SNV P173P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.463 252344 chr18 3188908 3188908 - GTGGACTGCTTGGATGCC MYOM1 S211_R212insKQSTAS 0 0 0.003 0 0 0 0 1 0 0 0 0 252345 chr20 62196448 62196448 G A rs201050184 HELZ2 Nonsynonymous SNV R674W 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 252346 chr18 43417747 43417747 C A SIGLEC15 Nonsynonymous SNV R128S 0 0 0.003 0 0 0 0 1 0 0 0 0 27 252347 chr18 47016848 47016848 G A rs201480007 RPL17, RPL17-C18orf32 Synonymous SNV N59N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 252348 chr18 54814579 54814579 G T rs1042038255 BOD1L2 Synonymous SNV A12A 0 0 0.007 1 0 0 0.003 2 0 0 0 0 6.809 252349 chr4 845577 845577 C T rs777823118 GAK Nonsynonymous SNV G1078R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 252350 chr21 19715897 19715897 A T rs778779258 TMPRSS15 Nonsynonymous SNV F452I 0.001 0 0 0 1 0 0 0 0 0 0 0 27 252351 chr17 37816710 37816710 C T rs202071810 STARD3 Synonymous SNV L277L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.96 252352 chr18 65181360 65181360 A G rs754587980 DSEL Synonymous SNV N162N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.134 252353 chr1 39920689 39920689 G T MACF1 Stop gain E4940X 0 0 0 1 0 0 0.003 0 0 0 0 0 58 252354 chr4 998118 998118 G A rs546148833 IDUA Synonymous SNV S501S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.961 252355 chr5 100231379 100231379 G A rs866022278 ST8SIA4 Nonsynonymous SNV S75F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 252356 chr18 72114389 72114389 C T rs766582622 DIPK1C Nonsynonymous SNV G110S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 31 252357 chr2 25474870 25474870 C T rs1053461527 DNMT3A Nonsynonymous SNV E32K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.08 252358 chr17 39464437 39464437 G T rs72828116 KRTAP16-1 Nonsynonymous SNV L357I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.05 252359 chr18 72264750 72264750 T C rs117766951 LINC00909 0 0 0.003 0 0 0 0 1 0 0 0 0 9.735 252360 chr6 33740487 33740487 G A rs138593836 LEMD2 Nonsynonymous SNV T175M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 252361 chr21 42845313 42845313 C T rs142446494 TMPRSS2 Nonsynonymous SNV V317M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 252362 chr18 77474654 77474654 C T rs372982303 CTDP1 Synonymous SNV P279P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.2 252363 chr17 40695415 40695415 G A rs377282648 NAGLU Nonsynonymous SNV R464Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 252364 chr2 31588406 31588406 C T rs765777817 XDH Nonsynonymous SNV G821S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 252365 chr2 3481491 3481491 A C TRAPPC12 Nonsynonymous SNV K601T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.87 252366 chr6 41903738 41903738 G A rs760015142 CCND3 Synonymous SNV S201S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.744 252367 chr17 45369543 45369543 C T rs200857868 ITGB3 Synonymous SNV P433P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.77 252368 chr19 11216089 11216089 C T rs146354103 LDLR Synonymous SNV N128N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.88 252369 chr19 11510766 11510766 T C RGL3 Synonymous SNV K533K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 252370 chr19 12461689 12461689 T C rs138150810 ZNF442 Nonsynonymous SNV Y168C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 252371 chr19 1360599 1360599 T A PWWP3A Nonsynonymous SNV L159M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.827 252372 chr2 48030631 48030631 C T rs191109849 MSH6 Nonsynonymous SNV P952L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 252373 chr6 170628128 170628128 T C FAM120B Synonymous SNV P562P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.301 252374 chr6 46135579 46135579 C T rs140311004 ENPP5 Nonsynonymous SNV G47R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 252375 chr19 15484672 15484672 C T rs780425403 AKAP8 Nonsynonymous SNV R99H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 252376 chr17 61497609 61497609 T C rs752370195 TANC2 Synonymous SNV N1422N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.174 252377 chr17 61566435 61566435 C T rs143699430 ACE Synonymous SNV H287H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.87 252378 chr6 27368331 27368331 A G rs201938722 ZNF391 Nonsynonymous SNV E61G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 252379 chr22 24096540 24096540 C T rs150757200 VPREB3 Nonsynonymous SNV R4Q 0.002 0 0 0 2 0 0 0 0 0 0 0 2.243 252380 chr22 24615980 24615980 G A rs138700165 GGT5 Synonymous SNV A497A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.311 252381 chr19 18174820 18174820 T C rs773049771 IL12RB1 Nonsynonymous SNV E495G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 252382 chr17 72832792 72832792 C T rs748911816 TMEM104 Nonsynonymous SNV T486M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 252383 chr1 205027164 205027164 C T rs762058787 CNTN2 Synonymous SNV R62R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 15.55 252384 chr1 91406308 91406308 A G ZNF644 Synonymous SNV G201G 0 0 0 2 0 0 0.005 0 0 0 0 0 8.857 252385 chr19 19241076 19241076 C T rs145831295 TMEM161A Nonsynonymous SNV E162K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 252386 chr22 30891296 30891296 T C SEC14L4 Nonsynonymous SNV K123R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.605 252387 chr1 92763542 92763542 T G GLMN Nonsynonymous SNV E5D 0 0 0 2 0 0 0.005 0 0 0 0 0 14.32 252388 chr22 31524263 31524263 G A rs370023356 INPP5J Nonsynonymous SNV A220T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 252389 chr19 2290362 2290362 G A LINGO3 Nonsynonymous SNV P472S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 252390 chr6 39881568 39881568 C T rs377241570 MOCS1 Nonsynonymous SNV V112I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 252391 chr6 40360268 40360268 G A rs776519359 LRFN2 Nonsynonymous SNV P595L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.562 252392 chr1 103381192 103381192 C A rs150669855 COL11A1 Nonsynonymous SNV V1155L 0.001 0 0 4 1 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.012 252393 chr6 4052317 4052317 C T rs200298572 PRPF4B Synonymous SNV F767F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 252394 chr5 170669803 170669803 T C rs144503439 RANBP17 Nonsynonymous SNV S919P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 252395 chr5 176315434 176315434 G T rs745620616 HK3 Synonymous SNV A401A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.778 252396 chr5 176885097 176885097 G A rs767964096 DBN1 Synonymous SNV L312L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.998 252397 chr5 177580507 177580507 T C NHP2 Nonsynonymous SNV N72S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.5 252398 chr19 36497553 36497553 C T rs760598089 SYNE4 Synonymous SNV T100T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.198 252399 chr5 149200067 149200067 C T rs568098888 PPARGC1B Synonymous SNV S50S 0.005 0.005 0 0 6 2 0 0 0 0 0 0 18.88 252400 chr5 149221874 149221874 A T rs780219234 PPARGC1B Nonsynonymous SNV E878V 0.005 0.005 0 0 6 2 0 0 0 0 0 0 29.2 252401 chr5 149583313 149583313 A G SLC6A7 Nonsynonymous SNV M391V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 25.5 252402 chr5 195179 195179 G A rs201956987 LRRC14B Nonsynonymous SNV R419H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.041 252403 chr6 53517128 53517128 T C rs149664884 KLHL31 Synonymous SNV R391R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.107 252404 chr19 3770891 3770891 C G RAX2 Nonsynonymous SNV V141L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.663 252405 chr3 125741740 125741740 T G rs200870325 SLC41A3 Nonsynonymous SNV K176Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.5 252406 chr7 116339709 116339709 C T MET Nonsynonymous SNV R191W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 26.4 252407 chr7 117003695 117003695 G T rs144678473 ASZ1 Nonsynonymous SNV F253L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.12 252408 chr3 129324285 129324285 T C PLXND1 Nonsynonymous SNV I400V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.009 252409 chr3 12977631 12977631 C T rs151018442 IQSEC1 Synonymous SNV E295E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.202 252410 chr3 130289688 130289688 G A rs768507381 COL6A6 Nonsynonymous SNV V810I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.16 252411 chr19 4283143 4283143 C T SHD Nonsynonymous SNV R166W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252412 chr19 42880560 42880560 C T MEGF8 Nonsynonymous SNV A2657V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.06 252413 chr6 87969321 87969321 T C rs200457425 ZNF292 Nonsynonymous SNV S1992P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.88 252414 chr2 103353256 103353256 C A rs137924322 MFSD9 Nonsynonymous SNV G5V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.02 252415 chr3 134323141 134323141 G A rs376295684 KY Synonymous SNV S406S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.741 252416 chr5 178408698 178408698 G A rs768472470 GRM6 Nonsynonymous SNV A865V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.95 252417 chr2 106729102 106729102 C T rs200927199 UXS1 Synonymous SNV T120T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 252418 chr19 44792105 44792105 C G rs377265887 ZNF235 Nonsynonymous SNV G495R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 252419 chr2 119914383 119914383 C T C1QL2 Nonsynonymous SNV D287N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 252420 chr7 141952372 141952372 G A rs146814209 PRSS58 Nonsynonymous SNV R166C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 252421 chr2 120124941 120124941 G A rs574884810 DBI Nonsynonymous SNV G10E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.984 252422 chr19 45648891 45648891 C T rs754432016 PPP1R37 Nonsynonymous SNV T526I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 252423 chr19 45853905 45853905 C T rs201950695 KLC3 Nonsynonymous SNV R427C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 252424 chr7 148963481 148963481 A G rs187646530 ZNF783 Nonsynonymous SNV Q27R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.609 252425 chr19 46800339 46800339 G C HIF3A Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 252426 chr5 79366195 79366195 G A rs138775049 THBS4 Nonsynonymous SNV D381N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 252427 chr19 48543978 48543978 T C rs758878064 CABP5 Nonsynonymous SNV D41G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.7 252428 chr5 82834311 82834311 C T rs141725839 VCAN Nonsynonymous SNV S843F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.04 252429 chr19 48565512 48565512 T C PLA2G4C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.232 252430 chr5 86708505 86708505 G C CCNH Nonsynonymous SNV A36G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 252431 chr1 172376915 172376915 G T DNM3 Synonymous SNV R838R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.693 252432 chr19 49173663 49173663 C T rs111252193 NTN5 Nonsynonymous SNV R194Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 24 252433 chr19 49206862 49206862 G C rs146094646 FUT2 Nonsynonymous SNV V217L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.25 252434 chr5 93752964 93752964 G C KIAA0825 Nonsynonymous SNV N868K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 252435 chr3 184043515 184043515 G A rs781173152 SNORD66 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 252436 chr2 164466298 164466298 C T rs772366924 FIGN Nonsynonymous SNV V671I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 252437 chr7 102960283 102960283 A G DNAJC2 Synonymous SNV N290N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.598 252438 chr7 103155722 103155722 C T rs747571208 RELN Nonsynonymous SNV A2677T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.4 252439 chr7 105254802 105254804 GAG - rs150182467 ATXN7L1 S537del 0 0.003 0 0 0 1 0 0 0 0 0 0 252440 chr7 23183608 23183608 A G KLHL7 Nonsynonymous SNV I253V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 252441 chr7 112095897 112095897 C T rs753754718 IFRD1 Synonymous SNV S8S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 252442 chr7 27867375 27867375 A G rs202210451 TAX1BP1 Nonsynonymous SNV T595A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.568 252443 chr1 201180136 201180136 G T rs547571764 IGFN1 Nonsynonymous SNV G2039W 0 0 0 1 0 0 0.003 0 0 0 0 0 15.53 252444 chr2 179548796 179548796 C T rs368838709 TTN Synonymous SNV P9668P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 252445 chr19 52394614 52394614 C G rs149982418 ZNF649 Nonsynonymous SNV E259Q 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 22 252446 chr7 42949773 42949773 C T rs138139143 C7orf25 Nonsynonymous SNV D301N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.8 252447 chr2 182521502 182521502 G A CERKL Nonsynonymous SNV P78S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 252448 chr6 131277575 131277575 C T rs2297852 EPB41L2 Synonymous SNV Q17Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 252449 chr7 44806209 44806209 A G rs749486711 ZMIZ2 Nonsynonymous SNV M842V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.852 252450 chr7 137531322 137531322 G A rs769151879 DGKI Nonsynonymous SNV A96V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 252451 chr19 54711425 54711425 C T rs774690405 RPS9 Synonymous SNV D148D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 252452 chr19 54711428 54711428 C T rs142681896 RPS9 Synonymous SNV D149D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 252453 chr6 146269481 146269481 C A rs758841786 SHPRH Nonsynonymous SNV A330S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 252454 chr7 48391777 48391777 G T ABCA13 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 252455 chr2 198948665 198948665 C G rs147528074 PLCL1 Nonsynonymous SNV Q142E 0.003 0 0 0 4 0 0 0 0 0 0 0 15.58 252456 chr19 55396818 55396818 C A rs587594959 FCAR Nonsynonymous SNV T69N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 252457 chr7 50143960 50143960 C T rs773612283 SPATA48 Nonsynonymous SNV R202C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.774 252458 chr2 202580418 202580418 G C ALS2 Synonymous SNV T1327T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.417 252459 chr19 7184508 7184508 C T rs767903268 INSR Nonsynonymous SNV V265M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 252460 chr6 158927666 158927666 G A rs144381668 TULP4 Synonymous SNV P1524P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 252461 chr6 158957499 158957499 C A rs547569348 TMEM181 Synonymous SNV P7P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 252462 chr7 150691009 150691009 C T rs764652925 NOS3 Nonsynonymous SNV R40W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 252463 chr2 210558198 210558198 T G MAP2 Nonsynonymous SNV L431R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.7 252464 chr7 151878263 151878263 T C rs754966385 KMT2C Nonsynonymous SNV R2228G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.93 252465 chr19 5778533 5778533 G A rs114675826 CATSPERD Nonsynonymous SNV R748H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.207 252466 chr19 57839494 57839494 A G rs374127433 ZNF543 Nonsynonymous SNV T222A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 252467 chr3 49331946 49331946 T C USP4 Nonsynonymous SNV S546G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.202 252468 chr19 58515846 58515846 T C LOC100128398 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 252469 chr19 58868891 58868891 G A rs751535949 ZNF497 Synonymous SNV G37G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.546 252470 chr19 58908320 58908320 C G rs776707526 RNF225 Synonymous SNV G288G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.1 252471 chr19 58928526 58928526 A G rs149429599 ZNF584 Nonsynonymous SNV H169R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 252472 chr7 2054242 2054242 G A rs552851020 MAD1L1 Synonymous SNV Y326Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.118 252473 chr2 219883837 219883837 A G rs200240886 CFAP65 Nonsynonymous SNV F1180L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.867 252474 chr19 9002670 9002670 A T rs762495214 MUC16 Synonymous SNV P13382P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 252475 chr6 24178818 24178818 C T rs183480366 DCDC2 Nonsynonymous SNV A356T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.29 252476 chr2 224623445 224623445 T C rs750601010 AP1S3 Nonsynonymous SNV K151R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.52 252477 chr3 57232956 57232956 T C HESX1 Nonsynonymous SNV H61R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 252478 chr2 228680280 228680280 A G rs374526713 CCL20 Nonsynonymous SNV I62V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 252479 chr6 2749565 2749565 G A rs763935636 MYLK4 Synonymous SNV H44H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.022 252480 chr6 35854517 35854517 T C rs376053592 SRPK1 Synonymous SNV S154S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.845 252481 chr2 234704625 234704625 G A rs200513254 MROH2A Nonsynonymous SNV A358T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 252482 chr3 99885200 99885200 A G rs111259484 CMSS1 Nonsynonymous SNV N108S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 24.1 252483 chr2 238285919 238285919 G A rs1039764953 COL6A3 Nonsynonymous SNV R249C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 252484 chr19 9492181 9492181 - GAGAGAAGCC ZNF177, ZNF559-ZNF177 Frameshift insertion Y396Rfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 252485 chr1 104113217 104113217 C T rs563225470 ACTG1P4 0 0 0.003 0 0 0 0 1 0 0 0 0 5.758 252486 chr4 110610565 110610565 C T CASP6 Nonsynonymous SNV S179N 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 9.5 252487 chr1 109792784 109792784 C T rs201372895 CELSR2 Nonsynonymous SNV P28L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 252488 chr20 17929607 17929607 C T rs777316494 SNX5 Nonsynonymous SNV R177Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 252489 chr2 242079350 242079350 C T rs374134139 PASK Nonsynonymous SNV E184K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 252490 chr2 24046263 24046263 G A ATAD2B Nonsynonymous SNV R666C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 252491 chr7 73117192 73117192 T C rs781827788 STX1A Nonsynonymous SNV M221V 0 0.005 0 0 0 2 0 0 0 0 0 0 22.8 252492 chr1 114399309 114399309 G C rs898646656 AP4B1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.598 252493 chr4 13602618 13602618 G T BOD1L1 Nonsynonymous SNV T1969K 0.003 0 0 0 4 0 0 0 0 0 0 0 22 252494 chr4 154216828 154216828 C T TRIM2 Synonymous SNV L357L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.61 252495 chr7 91682225 91682225 G A AKAP9 Nonsynonymous SNV A1852T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.3 252496 chr7 938895 938895 C T ADAP1 Nonsynonymous SNV A196T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 252497 chr7 94248211 94248211 A G rs752764608 SGCE Nonsynonymous SNV M133T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 252498 chr1 147119276 147119276 G A rs368117336 ACP6 Synonymous SNV Y412Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.204 252499 chr4 15597719 15597719 T C rs780298185 CC2D2A Synonymous SNV N1442N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.57 252500 chr19 23544725 23544808 ACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTATGTTTAGCAAGGGTTGAAGAACGGCTAAAAGCTTTGCCACATTCTTC - ZNF91 E293_C320del 0 0.003 0 0 0 1 0 0 0 0 0 0 252501 chr1 150550794 150550794 C G MCL1 Nonsynonymous SNV E288Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 252502 chr1 152659646 152659646 C T rs138022689 LCE2B Synonymous SNV C109C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.239 252503 chr6 89890050 89890050 G T rs768348668 GABRR1 Synonymous SNV T352T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.976 252504 chr20 56071405 56071405 T C rs972160069 CTCFL Synonymous SNV T668T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.017 252505 chr8 124268023 124268023 G A rs749892729 ZHX1 Nonsynonymous SNV S55F 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 252506 chr20 57768972 57768972 T C rs753606645 ZNF831 Synonymous SNV S966S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.016 252507 chr8 126015543 126015543 A G rs753091806 SQLE Synonymous SNV A139A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.954 252508 chr1 158582673 158582673 T G rs78598639 SPTA1 Nonsynonymous SNV E2356D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.61 252509 chr1 158624407 158624407 G A rs753292055 SPTA1 Synonymous SNV I1010I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 252510 chr4 26661221 26661221 A G TBC1D19 Synonymous SNV V96V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.64 252511 chr1 159283699 159283699 T C rs747019979 OR10J3 Nonsynonymous SNV I251V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 252512 chr1 159858244 159858244 G T rs751542206 CFAP45 Nonsynonymous SNV S105R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 252513 chr1 160063586 160063586 G T rs200042857 IGSF8 Nonsynonymous SNV A273D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 252514 chr1 160063587 160063587 C A rs142411779 IGSF8 Nonsynonymous SNV A273S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 252515 chr1 160264593 160264593 C T rs143115096 COPA Nonsynonymous SNV G853D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.3 252516 chr1 160917792 160917792 C T rs149869952 ITLN2 Nonsynonymous SNV R251Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 252517 chr4 39313100 39313100 T G rs754480413 RFC1 Nonsynonymous SNV K459Q 0.003 0 0 0 4 0 0 0 0 0 0 0 22.6 252518 chr1 16532554 16532554 C T rs150306829 ARHGEF19 Synonymous SNV R441R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 252519 chr3 11070965 11070965 G A rs191293931 SLC6A1 Nonsynonymous SNV R239H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.7 252520 chr7 107432300 107432300 G A rs73419912 SLC26A3 Synonymous SNV F119F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.552 252521 chr1 17657512 17657512 G T PADI4 Synonymous SNV G47G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 252522 chr7 112423896 112423896 C T rs768623124 TMEM168 Nonsynonymous SNV V329I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.34 252523 chr1 177906633 177906633 T G rs201888749 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV Q399P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 252524 chr1 178062924 178062924 - CCGCCA RASAL2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 252525 chr1 178846699 178846699 A G rs35161510 RALGPS2 Nonsynonymous SNV N225S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.591 252526 chr1 178866804 178866804 A T rs61758795 RALGPS2 Synonymous SNV A453A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.526 252527 chr4 6303731 6303731 G A rs147834269 WFS1 Nonsynonymous SNV E737K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 252528 chr9 107289363 107289363 C T rs149541772 OR13C4 Nonsynonymous SNV G43D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 252529 chr9 109771874 109771874 G A rs199563340 ZNF462 Nonsynonymous SNV R1548H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 252530 chr19 46997020 46997020 C G PNMA8B Nonsynonymous SNV G568A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.17 252531 chr8 1950946 1950946 C T rs113555643 KBTBD11 Synonymous SNV L530L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.777 252532 chr8 27379995 27379995 A T EPHX2 Nonsynonymous SNV Y277F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.977 252533 chr3 130162327 130162327 C T rs768738382 COL6A5 Synonymous SNV F2165F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.71 252534 chr21 46308610 46308610 C G rs200335681 ITGB2 Nonsynonymous SNV R693P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.8 252535 chr2 179470083 179470083 T C rs72646812 TTN-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 0.361 252536 chr7 149521613 149521613 C A rs112967723 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 2.473 252537 chr2 179616241 179616241 T - rs767871066 TTN D3629Vfs*3 0 0 0 2 0 0 0.005 0 0 0 0 0 252538 chr8 42026513 42026513 A G rs118114913 AP3M2 Synonymous SNV E397E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.628 252539 chr1 205426029 205426029 C T rs1054167945 LEMD1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 252540 chr1 205492413 205492413 C T rs200256810 CDK18 Nonsynonymous SNV R40W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 252541 chr22 19431886 19431886 G A rs373255364 C22orf39 Stop gain R111X 0.003 0 0 1 3 0 0.003 0 0 0 0 0 36 252542 chr22 20043530 20043530 A G rs756155779 TANGO2 Nonsynonymous SNV T51A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.019 252543 chr1 21053548 21053548 G A rs374527008 SH2D5 Synonymous SNV A63A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.899 252544 chr1 211749548 211749548 C T SLC30A1 Nonsynonymous SNV E236K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.666 252545 chr3 16305682 16305682 T C rs763811482 DPH3 Nonsynonymous SNV I55V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 252546 chr7 2296615 2296615 G A SNX8 Nonsynonymous SNV S393F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 252547 chr8 95768341 95768341 C T rs150195982 DPY19L4 Nonsynonymous SNV A230V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 252548 chr7 23391090 23391090 C A rs149743260 IGF2BP3 Nonsynonymous SNV G173W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 252549 chr8 96166668 96166668 T C rs111601825 PLEKHF2 Synonymous SNV D132D 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 0.15 252550 chr7 2644613 2644613 C T rs777924707 IQCE Synonymous SNV G512G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 252551 chr5 133478444 133478444 A C rs140491009 TCF7 Nonsynonymous SNV E123A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 28.9 252552 chr1 228464912 228464912 G A rs752586730 OBSCN Nonsynonymous SNV A2218T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 252553 chr7 39991039 39991039 A G CDK13 Nonsynonymous SNV S267G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.78 252554 chr1 228494866 228494866 G A rs371821947 OBSCN Nonsynonymous SNV R4064H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 252555 chr9 123550480 123550480 A G rs758528830 FBXW2 Synonymous SNV S19S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 252556 chr22 42999093 42999093 T C rs780089261 POLDIP3 Nonsynonymous SNV T45A 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.001 252557 chr22 42999103 42999103 G A POLDIP3 Synonymous SNV L41L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.253 252558 chr19 56671272 56671272 - CCCCGGCAG rs555942669 ZNF444 G236_P237insSPG 0 0.003 0.003 0 0 1 0 1 0 0 0 0 252559 chr7 51092976 51092976 G A rs201787564 COBL Nonsynonymous SNV L1200F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.89 252560 chr9 2039776 2039776 A G rs13296987 SMARCA2 Synonymous SNV Q222Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.991 252561 chr9 2039779 2039779 G A rs62639301 SMARCA2 Synonymous SNV Q223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.61 252562 chr7 5112853 5112853 G C rs73316654 RBAKDN 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.735 252563 chr3 20027585 20027587 TTC - rs560913423 PP2D1 R393del 0.001 0 0 0 1 0 0 0 0 0 0 0 252564 chr7 5410684 5410684 G A rs61738601 TNRC18 Synonymous SNV L1181L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.192 252565 chr22 46765591 46765591 T C CELSR1 Nonsynonymous SNV I2624V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.002 252566 chr22 46793607 46793607 C T rs200619489 CELSR1 Nonsynonymous SNV D1889N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.36 252567 chr22 50181478 50181478 G A rs928765024 BRD1 Nonsynonymous SNV S801L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.23 252568 chr9 35750930 35750930 G A rs375678615 RGP1 Nonsynonymous SNV R144H 0.001 0 0 0 1 0 0 0 0 0 0 0 30 252569 chr1 247751881 247751881 C T rs142325527 OR2G2 Nonsynonymous SNV R74C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 252570 chr9 131480838 131480838 T A PKN3 Nonsynonymous SNV L687M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 252571 chr1 181058599 181058599 T A IER5 Synonymous SNV G187G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 252572 chr22 51159989 51159989 A C SHANK3 Nonsynonymous SNV Q1304P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 252573 chr9 134955082 134955082 C T rs1019231604 MED27 Synonymous SNV K50K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.91 252574 chr9 136266913 136266913 C T rs150926353 STKLD1 Synonymous SNV I415I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.614 252575 chr9 136310108 136310108 G A rs140639242 ADAMTS13 Nonsynonymous SNV V849I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.369 252576 chr3 48491500 48491500 A G ATRIP Nonsynonymous SNV N9S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.109 252577 chr9 88611322 88611322 A G rs141991899 NAA35 Nonsynonymous SNV I296V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.218 252578 chr3 49138089 49138089 A T QARS1 Nonsynonymous SNV F288I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 252579 chr1 33236824 33236824 C T rs199566536 KIAA1522 Nonsynonymous SNV P623S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.519 252580 chr9 139657898 139657898 C T rs774201615 LCN15 Nonsynonymous SNV R110H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 252581 chr2 119604136 119604136 G T EN1 Nonsynonymous SNV A203E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 252582 chr3 50220181 50220181 C T SEMA3F Nonsynonymous SNV P191S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 252583 chr3 52245363 52245363 G C rs771754612 ALAS1 Synonymous SNV R465R 0.003 0 0 0 3 0 0 0 0 0 0 0 4.582 252584 chr9 140317996 140317996 G A rs761437751 NOXA1 Synonymous SNV G5G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.451 252585 chr20 19956013 19956013 G C rs781480608 RIN2 Nonsynonymous SNV M448I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.61 252586 chr1 39775958 39775958 G A MACF1 Synonymous SNV K991K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 252587 chr20 21376763 21376763 C T NKX2-4 Nonsynonymous SNV G284D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 252588 chr5 38482130 38482130 A G rs753405023 LIFR Nonsynonymous SNV I954T 0.003 0 0 0 3 0 0 0 0 0 0 0 22 252589 chr8 110504158 110504158 G A rs200902521 PKHD1L1 Nonsynonymous SNV V3391I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.5 252590 chr1 43903310 43903310 C T rs746338306 SZT2 Nonsynonymous SNV A2055V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.134 252591 chr7 81593605 81593605 A G rs760765395 CACNA2D1 Nonsynonymous SNV F882S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.81 252592 chr9 27192562 27192562 G A rs138894008 TEK Nonsynonymous SNV R375H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 252593 chrX 140993827 140993827 - TTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTC MAGEC1 R220_T221insSQRTSEGFAQSPLQIPVSSSSSSTLLSLFQSSPER 0.002 0 0 0 2 0 0 0 1 0 0 0 252594 chr8 12594460 12594460 G T LONRF1 Nonsynonymous SNV Q435K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.86 252595 chr7 90042355 90042355 T A rs146056566 CLDN12 Nonsynonymous SNV L122Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 17.05 252596 chr1 49224768 49224768 A G rs900615772 BEND5 Synonymous SNV Y14Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.121 252597 chr20 37146212 37146212 A C rs369117744 RALGAPB Nonsynonymous SNV Q372P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.39 252598 chr9 37126514 37126514 C T rs140974537 ZCCHC7 Nonsynonymous SNV S62L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.21 252599 chr20 40161798 40161798 C T CHD6 Nonsynonymous SNV D149N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 252600 chr9 38396877 38396877 C T rs142427338 ALDH1B1 Stop gain Q378X 0 0.003 0.003 0 0 1 0 1 0 0 0 0 36 252601 chr20 44048224 44048224 T C rs147475258 PIGT Synonymous SNV V123V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 5.73 252602 chr9 6504668 6504668 G C rs371458124 UHRF2 Nonsynonymous SNV E747Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.4 252603 chr5 76709086 76709086 C T rs762032512 PDE8B Synonymous SNV A524A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.83 252604 chr2 179398591 179398591 T C rs56173891 TTN Nonsynonymous SNV M25186V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.532 252605 chr9 96055096 96055096 C T rs376339913 WNK2 Synonymous SNV D1783D 0 0.005 0 0 0 2 0 0 0 0 0 0 6.704 252606 chr2 179433388 179433388 C T rs376051922 TTN Nonsynonymous SNV R16759H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 23.1 252607 chr9 98212185 98212185 C T rs113663584 PTCH1 Nonsynonymous SNV G1111S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 26.7 252608 chr10 106074920 106074920 G A rs139815130 ITPRIP Nonsynonymous SNV T297M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.091 252609 chr6 105563607 105563607 G A rs777632841 BVES Synonymous SNV D304D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.74 252610 chr1 86920926 86920926 C T rs774453909 CLCA2 Nonsynonymous SNV H850Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.382 252611 chr1 87029431 87029431 - A rs763472408 CLCA4 Frameshift insertion I182Nfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 252612 chr8 17533807 17533807 T C rs752148118 MTUS1 Nonsynonymous SNV Y11C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.5 252613 chr1 93667456 93667456 C T rs200045120 CCDC18 Stop gain R236X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 252614 chr21 30325565 30325565 C T rs745718495 LTN1 Synonymous SNV S1057S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.35 252615 chr20 10621456 10621456 C T JAG1 Synonymous SNV Q1058Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 252616 chr10 126523198 126523198 G A rs144062723 ABRAXAS2 Synonymous SNV S302S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.91 252617 chr20 1161999 1161999 A C rs757291193 TMEM74B Synonymous SNV P64P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 252618 chr10 126715116 126715116 G A CTBP2 Nonsynonymous SNV R405C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 252619 chr10 128973584 128973584 T C INSYN2A Nonsynonymous SNV K359R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 252620 chrX 9900358 9900358 C T rs200564339 SHROOM2 Nonsynonymous SNV A1012V 0 0.005 0 0 0 2 0 0 0 1 0 0 22.9 252621 chr20 25457332 25457332 A G NINL Synonymous SNV D865D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.214 252622 chr4 187525662 187525662 C T rs774876401 FAT1 Nonsynonymous SNV G3473S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 252623 chr20 31035580 31035580 G A rs761283119 NOL4L Nonsynonymous SNV T377I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 252624 chr2 219300026 219300026 C T rs142048006 VIL1 Synonymous SNV D565D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.3 252625 chr1 1149502 1149502 G A rs202161001 TNFRSF4 Synonymous SNV C2C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.889 252626 chr21 46893834 46893834 G A rs201095161 COL18A1 Nonsynonymous SNV R406H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.84 252627 chr1 1269399 1269399 C T rs571862161 TAS1R3 Nonsynonymous SNV P705L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 252628 chr8 67809086 67809086 C G MCMDC2 Synonymous SNV P506P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 252629 chr2 220405179 220405179 G C CHPF Nonsynonymous SNV D256E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.061 252630 chr8 72123470 72123470 C G EYA1 Nonsynonymous SNV R540T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 252631 chr8 86245784 86245784 A G rs746402143 CA1 Synonymous SNV D27D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.547 252632 chr8 93004030 93004030 G A rs143607818 RUNX1T1 Synonymous SNV Y239Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 4.431 252633 chr20 60293723 60293723 G A rs190522990 LOC100128310 0 0 0.003 0 0 0 0 1 0 0 0 0 6.132 252634 chr20 6065890 6065890 C T rs148992845 FERMT1 Synonymous SNV S472S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.63 252635 chr20 60927368 60927368 C T rs373447954 LAMA5 Nonsynonymous SNV R206H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.7 252636 chr10 63851141 63851141 A G rs150157555 ARID5B Nonsynonymous SNV N397S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 252637 chr20 61340774 61340774 C T rs11698783 NTSR1 Nonsynonymous SNV A72V 0.001 0 0.007 4 1 0 0.01 2 0 0 0 0 Benign 13.5 252638 chr4 71508539 71508539 G A rs148712673 ENAM Nonsynonymous SNV V248I 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.162 252639 chr9 116812114 116812114 C T rs62640055 ZNF618 Synonymous SNV A811A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.43 252640 chr6 4130684 4130684 A C rs969392819 ECI2 Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 252641 chr10 75541957 75541957 G - rs763278697 CHCHD1 E42Rfs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 252642 chr4 83423926 83423926 A C rs760676583 TMEM150C Synonymous SNV P63P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.859 252643 chr21 34537775 34537776 AT - LINC01548 0 0 0.003 0 0 0 0 1 0 0 0 0 252644 chr10 91177957 91177957 A G rs137961574 IFIT5 Nonsynonymous SNV D334G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 17.32 252645 chr4 952040 952040 C T rs142744759 TMEM175 Nonsynonymous SNV A342V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 252646 chr10 95069777 95069777 C T rs200131714 MYOF Synonymous SNV P2036P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 252647 chr3 196386790 196386790 C T rs772814671 NRROS Synonymous SNV H92H 0 0 0 2 0 0 0.005 0 0 0 0 0 7.228 252648 chr3 196678780 196678780 G T PIGZ Synonymous SNV L41L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.523 252649 chr21 42540358 42540358 C A BACE2 Nonsynonymous SNV H56Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 252650 chr5 102343242 102343242 G A rs774512034 PAM Nonsynonymous SNV C592Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 252651 chr4 1808929 1808929 C T rs754239704 FGFR3 Nonsynonymous SNV R765C 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 15.58 252652 chr21 45838409 45838409 C T rs141037341 TRPM2 Synonymous SNV P1144P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 252653 chr21 46233975 46233975 G A rs146445149 SUMO3 Synonymous SNV A22A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 252654 chr6 75840675 75840675 C T rs201827443 COL12A1 Nonsynonymous SNV R823H 0.002 0 0 0 2 0 0 0 0 0 0 0 15.96 252655 chr6 79695121 79695121 C A PHIP Nonsynonymous SNV G829C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 252656 chr5 129520368 129520368 G A CHSY3 Synonymous SNV K511K 0.003 0 0 0 3 0 0 0 0 0 0 0 7.83 252657 chr4 5798850 5798850 G A rs372089496 EVC Nonsynonymous SNV R663Q 0 0 0 2 0 0 0.005 0 0 0 0 0 33 252658 chr22 17444659 17444659 T G rs748653350 GAB4 Nonsynonymous SNV T360P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 252659 chr6 90605554 90605554 C T rs757332409 GJA10 Nonsynonymous SNV S456F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 252660 chr22 20043482 20043482 G A rs145876553 TANGO2 Nonsynonymous SNV V35I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 252661 chr22 20760415 20760415 G T ZNF74 Nonsynonymous SNV E293D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 252662 chr22 21356410 21356410 G A rs142646512 THAP7-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 17.29 252663 chr22 21356412 21356412 G A rs187788395 THAP7-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 15.22 252664 chr22 22324605 22324605 C T rs116048331 TOP3B Synonymous SNV L186L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.49 252665 chr2 80101282 80101282 G T rs202210209 CTNNA2 Synonymous SNV T222T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 4.883 252666 chr22 24181092 24181092 G A DERL3 Nonsynonymous SNV T28I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 252667 chr22 26228896 26228896 G A rs745750330 MYO18B Nonsynonymous SNV V998M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 252668 chr4 25678353 25678353 C T rs903673840 SLC34A2 Synonymous SNV T684T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.9 252669 chr22 28378313 28378313 C T rs373854784 TTC28 Nonsynonymous SNV A2448T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.7 252670 chr22 29193101 29193101 C T rs143559198 XBP1 Nonsynonymous SNV M139I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 252671 chr7 100608348 100608348 A G rs980093549 MUC3A Nonsynonymous SNV S1305G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.64 252672 chr4 66356238 66356238 C A EPHA5 Nonsynonymous SNV G420V 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 252673 chr22 39239570 39239570 C G rs867634449 NPTXR Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 252674 chr9 140330259 140330259 G A rs181530826 ENTPD8 Nonsynonymous SNV T358I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 26.7 252675 chr22 42085002 42085002 A C rs73161345 C22orf46 0 0 0.014 0 0 0 0 4 0 0 0 0 2.989 252676 chr4 71555623 71555623 C T rs149552771 UTP3 Nonsynonymous SNV A410V 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 252677 chr3 123167305 123167305 A G ADCY5 Nonsynonymous SNV S30P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.78 252678 chr22 44028110 44028110 T C rs777310863 EFCAB6 Nonsynonymous SNV M551V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 252679 chr7 128493415 128493415 A G rs577750085 FLNC-AS1 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.088 252680 chr3 126236523 126236523 G A rs147828466 UROC1 Nonsynonymous SNV R14W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 19.4 252681 chr22 47189678 47189678 C A rs112995262 TBC1D22A Nonsynonymous SNV P115T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 252682 chr3 128181559 128181559 G A rs374250309 DNAJB8 Nonsynonymous SNV S177L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.5 252683 chr1 9164630 9164630 C T rs767167550 GPR157 Nonsynonymous SNV V286I 0 0.003 0 0 0 1 0 0 0 0 0 0 1.342 252684 chrX 114541041 114541041 A C rs782712614 LUZP4 Nonsynonymous SNV H123P 0.001 0.005 0.007 0 1 2 0 2 0 1 1 0 10.33 252685 chr11 15247367 15247367 G A rs774475104 INSC Nonsynonymous SNV R346Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 252686 chr1 112533489 112533489 G A rs973396354 LINC01750 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 252687 chr5 176951392 176951392 C T rs369712230 FAM193B Nonsynonymous SNV R697Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 252688 chr2 105708915 105708915 T G rs758794450 MRPS9 Synonymous SNV A236A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.561 252689 chrX 14877419 14877419 A G rs200161949 FANCB Nonsynonymous SNV I330T 0 0.005 0 0 0 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 21.3 252690 chr5 1878107 1878107 G C rs956319404 IRX4 Synonymous SNV A512A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.773 252691 chr7 149487423 149487423 G T rs771454271 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 18.33 252692 chr3 142037536 142037536 C T rs150145962 XRN1 Nonsynonymous SNV G1507S 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 18.92 252693 chr3 142388326 142388326 T C rs200069650 PLS1 Synonymous SNV I55I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.393 252694 chr7 150217135 150217135 G A rs1026187186 GIMAP7 Nonsynonymous SNV A25T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 252695 chr11 20178664 20178664 C T rs201030070 DBX1 Synonymous SNV E197E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 252696 chr3 149485308 149485308 T C ANKUB1 Nonsynonymous SNV S381G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.022 252697 chr4 123192529 123192529 G A rs772902979 KIAA1109 Nonsynonymous SNV R2617H 0 0 0 3 0 0 0.008 0 0 0 0 0 27.5 252698 chr2 121103965 121103965 C G rs749128493 INHBB Synonymous SNV L67L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 252699 chr2 127821523 127821523 C T rs778962397 BIN1 Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 252700 chr3 151161330 151161330 T A rs35736581 IGSF10 Nonsynonymous SNV D1802V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Likely benign 23.2 252701 chr1 19440493 19440493 T C rs113775530 UBR4 Synonymous SNV P3758P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.79 252702 chr2 131673224 131673224 G A rs200268770 ARHGEF4 Nonsynonymous SNV E569K 0 0 0.007 0 0 0 0 2 0 0 0 0 6.508 252703 chr7 15725773 15725773 - TGC rs753233317 MEOX2 Q84_H85insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 252704 chr2 135626589 135626589 T C rs142477803 CCNT2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.545 252705 chr2 149854983 149854983 G A KIF5C Nonsynonymous SNV E724K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252706 chr11 33369177 33369177 G A HIPK3 Synonymous SNV T674T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.873 252707 chr3 172351370 172351370 C T rs61744197 NCEH1 Synonymous SNV E241E 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 10.82 252708 chr7 24905035 24905035 G - OSBPL3 S200Yfs*35 0.002 0 0 0 2 0 0 0 0 0 0 0 252709 chr2 160087449 160087449 A G rs201176314 TANC1 Nonsynonymous SNV I1637V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 252710 chrX 140994136 140994136 T C rs78484597 MAGEC1 Synonymous SNV L316L 0.004 0.016 0 0 5 6 0 0 0 3 0 0 0.017 252711 chr2 163204107 163204107 A G rs767400119 GCA Nonsynonymous SNV Q42R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 252712 chr7 27835823 27835823 T C rs766320940 TAX1BP1 Synonymous SNV C384C 0.002 0 0 0 2 0 0 0 0 0 0 0 7.626 252713 chr2 165544206 165544206 C T rs148298503 SNORA70F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.364 252714 chr3 184040191 184040191 C T rs371549303 EIF4G1 Synonymous SNV L325L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.85 252715 chr2 169759006 169759006 C T rs750324729 G6PC2 Synonymous SNV Y90Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 252716 chr1 28858817 28858817 A C rs74891018 RCC1 Synonymous SNV A132A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.61 252717 chr1 29139114 29139114 C T OPRD1 Synonymous SNV G73G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.24 252718 chr2 175711647 175711647 G A rs146313212 CHN1 Synonymous SNV N71N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.994 252719 chr2 179255871 179255871 C T rs751819144 OSBPL6 Synonymous SNV Y760Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 252720 chr3 187447625 187447625 T C rs374814697 BCL6 Nonsynonymous SNV T190A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.617 252721 chr2 179419353 179419353 C T rs111727915 TTN Nonsynonymous SNV R20509H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 252722 chr2 179433046 179433046 C G rs186681106 TTN Nonsynonymous SNV W16873S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.94 252723 chr2 179438480 179438480 C T rs149763294 TTN Nonsynonymous SNV E15062K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 252724 chr2 179448393 179448393 G A rs55948748 TTN Nonsynonymous SNV A12774V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.3 252725 chrX 54955724 54955724 C T rs201064205 TRO Nonsynonymous SNV T387M 0.004 0.01 0.007 0 5 4 0 2 1 2 1 0 11.87 252726 chr2 179480396 179480396 A G rs776643336 TTN Synonymous SNV D7079D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.068 252727 chr2 179482649 179482649 G A rs748816848 TTN Nonsynonymous SNV T6745I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.4 252728 chr2 179556748 179556748 G T rs200459347 TTN Nonsynonymous SNV P9342Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.67 252729 chr2 179580437 179580437 C T rs150544093 TTN Synonymous SNV R7324R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.68 252730 chr2 179587955 179587955 G T rs187925021 TTN Nonsynonymous SNV S6016Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.8 252731 chr2 179588159 179588159 C T rs138853909 TTN Nonsynonymous SNV R5979H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.1 252732 chr2 179600302 179600302 G T rs779268926 TTN Synonymous SNV T3713T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.302 252733 chr2 179606288 179606288 G A rs148164929 TTN Nonsynonymous SNV T3528I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.58 252734 chr2 185801817 185801817 A G rs768563916 ZNF804A Nonsynonymous SNV K565R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 252735 chr3 20017589 20017589 A G rs145181037 RAB5A Synonymous SNV A108A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.65 252736 chr2 187532418 187532418 T C rs200258394 ITGAV Nonsynonymous SNV V747A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 252737 chr10 103827456 103827456 A G HPS6 Nonsynonymous SNV Q742R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.696 252738 chr5 98212135 98212135 T C rs146805381 CHD1 Nonsynonymous SNV N1122S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.547 252739 chr6 100898212 100898212 G A rs145361258 SIM1 Synonymous SNV F93F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.6 252740 chr10 114900987 114900987 C T rs756968140 TCF7L2 Synonymous SNV P56P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.07 252741 chr2 204305520 204305520 A T rs142211303 RAPH1 Nonsynonymous SNV V798E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 252742 chr10 128830491 128830491 G A rs749635446 DOCK1 Nonsynonymous SNV G607S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 252743 chr1 52805801 52805801 C T rs373689197 ZFYVE9 Synonymous SNV V1220V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 252744 chr5 38881736 38881736 T C OSMR Synonymous SNV H96H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.658 252745 chr7 73101341 73101341 A G BUD23 Nonsynonymous SNV D93G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 252746 chr10 120923666 120923666 G C rs148315682 SFXN4 Nonsynonymous SNV P52A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 252747 chr5 43616017 43616017 C T rs775681133 NNT Nonsynonymous SNV T19M 0 0 0 2 0 0 0.005 0 0 0 0 0 33 252748 chr11 56086055 56086055 A C OR8K3 Synonymous SNV I91I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 252749 chr2 218925215 218925215 A G rs59564632 CXCR2P1 0 0 0.01 0 0 0 0 3 0 0 1 0 8.434 252750 chr2 218925283 218925283 G A rs3181380 CXCR2P1 0 0 0.01 0 0 0 0 3 0 0 1 0 2.677 252751 chr2 218925553 218925553 A C rs60743553 CXCR2P1 0 0 0.01 0 0 0 0 3 0 0 1 0 11.63 252752 chr2 218925572 218925572 T C rs16858606 CXCR2P1 0 0 0.01 0 0 0 0 3 0 0 1 0 0.124 252753 chr2 219695612 219695612 A G rs756777551 PRKAG3 Nonsynonymous SNV L29P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 252754 chr6 13592000 13592000 G A rs146470521 SIRT5 Nonsynonymous SNV G9R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 252755 chr1 70504367 70504367 C A rs780524150 LRRC7 Nonsynonymous SNV P955T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 252756 chr10 22094937 22094937 G A rs779614978 DNAJC1 Nonsynonymous SNV A357V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 252757 chr2 227523438 227523438 T A rs186688157 MIR5702 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 252758 chr2 228131179 228131179 A T rs377373374 COL4A3 Synonymous SNV P454P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.35 252759 chr7 99755280 99755280 C T rs149225624 MAP11 Nonsynonymous SNV E205K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 252760 chr2 233321740 233321740 C T rs371502607 ALPI Synonymous SNV R144R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 252761 chr8 116631983 116631983 C T rs200131404 TRPS1 Synonymous SNV P105P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 252762 chr2 234750482 234750482 C T rs374823793 HJURP Nonsynonymous SNV R230H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 252763 chr8 120759174 120759174 C T TAF2 Nonsynonymous SNV G960D 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 252764 chr2 237028983 237028983 C T rs138222964 AGAP1 Synonymous SNV H701H 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 14.6 252765 chr2 238727600 238727600 G C RBM44 Nonsynonymous SNV E579D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 252766 chr2 239007705 239007705 G A rs142900735 UBE2F-SCLY 0 0 0.003 0 0 0 0 1 0 0 0 0 5.803 252767 chr2 239186355 239186355 G A rs1050250530 PER2 Nonsynonymous SNV R75C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 252768 chr8 12957852 12957852 C A rs369369638 DLC1 Nonsynonymous SNV R154L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 252769 chr11 59564824 59564824 C T rs749753576 STX3 Synonymous SNV S285S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 252770 chr2 242498429 242498429 G A rs556250935 BOK-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 11.1 252771 chr2 242743540 242743540 C G GAL3ST2 Nonsynonymous SNV P386A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 252772 chr6 17800313 17800313 C T rs373766807 KIF13A Nonsynonymous SNV R829H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 252773 chr11 61110130 61110130 G A rs139629573 TKFC Nonsynonymous SNV G259S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 252774 chr11 61541545 61541545 A G rs146348968 MYRF Nonsynonymous SNV I408V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 252775 chr6 24475410 24475410 G A rs143874618 GPLD1 Nonsynonymous SNV A127V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.95 252776 chr8 144642909 144642909 C T rs754998794 GSDMD Nonsynonymous SNV R183W 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 252777 chr6 26156815 26156815 T C H1-4 Nonsynonymous SNV L66P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 252778 chr1 120480611 120480611 C T rs146014987 NOTCH2 Nonsynonymous SNV R1069Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.715 252779 chr11 63676517 63676517 C T rs320106 MARK2 Synonymous SNV S646S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.69 252780 chr11 63676562 63676562 G A rs320107 MARK2 Synonymous SNV P661P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.92 252781 chr11 63742174 63742174 C T rs7130187 COX8A Synonymous SNV L8L 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 14.33 252782 chr2 33952234 33952234 G A rs62147525 MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 7.545 252783 chr2 37506951 37506951 C T PRKD3 Nonsynonymous SNV M370I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 252784 chr4 1165077 1165077 G C rs201135079 SPON2 Nonsynonymous SNV L140V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.4 252785 chr2 39006208 39006208 G C GEMIN6 Nonsynonymous SNV E26Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 252786 chr8 145746739 145746739 T C rs756263564 LRRC14 Synonymous SNV N453N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 252787 chr2 55077276 55077276 G A rs368680107 EML6 Synonymous SNV T455T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 252788 chr8 17797667 17797667 G A rs567914745 PCM1 Synonymous SNV T300T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 252789 chr6 36922655 36922657 ACA - PI16 N41del 0.002 0 0 0 2 0 0 0 0 0 0 0 252790 chr11 66261019 66261019 A C DPP3 Nonsynonymous SNV Y405S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 252791 chr11 6643025 6643025 C T rs763186035 DCHS1 Synonymous SNV T3294T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 252792 chr11 6647209 6647209 T C rs745665964 DCHS1 Nonsynonymous SNV T2225A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.111 252793 chr5 149546735 149546735 G T CDX1 Nonsynonymous SNV S99I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 252794 chr10 97976472 97976472 C T rs141021727 BLNK Nonsynonymous SNV V182M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.8 252795 chr6 42074712 42074712 G A C6orf132 Nonsynonymous SNV S313L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 252796 chr6 42074907 42074907 C T rs755603011 C6orf132 Nonsynonymous SNV R248H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.422 252797 chr2 74657761 74657761 C A rs138243834 RTKN Nonsynonymous SNV G119C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 252798 chr6 44243851 44243851 C A TMEM151B Synonymous SNV R430R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 252799 chr11 71712308 71712308 C T rs747140268 IL18BP Synonymous SNV Y99Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 252800 chr11 73019803 73019803 A G rs762902771 ARHGEF17 Synonymous SNV R40R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 252801 chr2 98340829 98340829 G A ZAP70 Synonymous SNV P110P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.742 252802 chr8 41572500 41572500 G A rs987458909 ANK1 Synonymous SNV A565A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.996 252803 chr3 111700740 111700740 T C rs148066846 ABHD10 Synonymous SNV Y84Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.113 252804 chr3 119133086 119133086 A G ARHGAP31 Synonymous SNV E770E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.409 252805 chr3 119263485 119263485 G A rs759136851 CD80 Synonymous SNV D110D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.868 252806 chr11 94861862 94861862 A G rs75384502 ENDOD1 Nonsynonymous SNV R208G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.39 252807 chr8 8750151 8750151 G C rs763349846 MFHAS1 Nonsynonymous SNV L140V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 252808 chr12 10279284 10279284 T - CLEC7A S76Afs*25 0 0.003 0 0 0 1 0 0 0 0 0 0 252809 chr12 106995113 106995113 G A rs755800811 RFX4 Nonsynonymous SNV R20H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.2 252810 chr12 10772831 10772831 T C STYK1 Nonsynonymous SNV Q394R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 252811 chr3 135871057 135871057 A G MSL2 Synonymous SNV N148N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 252812 chr3 13649581 13649581 C T FBLN2 Synonymous SNV I442I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.02 252813 chr9 113163268 113163268 G T rs16914992 SVEP1 Nonsynonymous SNV P3230T 0.003 0 0.007 0 4 0 0 2 0 0 0 0 5.789 252814 chr6 27419171 27419171 C T rs201499940 ZNF184 Nonsynonymous SNV E723K 0.001 0 0 3 1 0 0.008 0 0 0 0 0 24.1 252815 chr12 111744743 111744743 C G CUX2 Nonsynonymous SNV L231V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.046 252816 chr1 204423857 204423857 - GG PIK3C2B Frameshift insertion L669Pfs*29 0 0.003 0 0 0 1 0 0 0 0 0 0 252817 chr4 5754589 5754589 G A rs372787652 EVC Synonymous SNV R375R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.007 252818 chr9 116857510 116857510 C T rs147618581 KIF12 Nonsynonymous SNV R195H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 252819 chr12 113745501 113745501 A G SLC8B1 Nonsynonymous SNV I413T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 252820 chr3 151055905 151055905 A T rs769573028 P2RY12 Synonymous SNV A243A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 252821 chr6 34738118 34738118 C A SNRPC Nonsynonymous SNV P101T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 252822 chr6 34802128 34802128 A G rs199768762 UHRF1BP1 Nonsynonymous SNV N158S 0.003 0 0 3 3 0 0.008 0 0 0 0 0 2.798 252823 chr3 15253636 15253636 C G CAPN7 Nonsynonymous SNV A43G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 252824 chr3 154802118 154802118 T C MME 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 23.1 252825 chr3 165504095 165504095 G T rs1028387606 BCHE Nonsynonymous SNV P508T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 252826 chr3 167045741 167045741 G A rs150765050 ZBBX Nonsynonymous SNV A284V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.47 252827 chr3 168833463 168833463 G A rs2276719 MECOM Synonymous SNV L545L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 252828 chr3 168845664 168845664 C T rs16853210 MECOM Synonymous SNV K78K 0 0 0.007 0 0 0 0 2 0 0 0 0 14.92 252829 chr12 124826544 124826544 G A rs201769852 NCOR2 Synonymous SNV R1661R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 252830 chr3 183273416 183273416 G C rs201944986 KLHL6 Nonsynonymous SNV A9G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.523 252831 chr9 134003022 134003022 G A rs754496000 NUP214 Nonsynonymous SNV A53T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 252832 chr1 227259982 227259982 C T CDC42BPA Synonymous SNV E837E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.76 252833 chr12 132514660 132514660 C T EP400 Nonsynonymous SNV T1904I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 252834 chr12 133780064 133780064 C T rs886720646 ZNF268 Stop gain Q598X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 252835 chr4 88766636 88766636 A G rs115322331 MEPE Nonsynonymous SNV S206G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 252836 chr9 138011772 138011772 C T rs3180564 OLFM1 Synonymous SNV A402A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 252837 chr3 194373728 194373728 A G rs773338278 LSG1 Synonymous SNV D301D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.893 252838 chr3 195460044 195460044 C T rs536626783 MUC20 Synonymous SNV H695H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.19 252839 chr12 234981 234981 C G rs376118139 IQSEC3 Nonsynonymous SNV S269C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 252840 chr5 10650218 10650218 G A rs770550326 ANKRD33B Nonsynonymous SNV R493K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.39 252841 chr3 197559073 197559073 A G rs143788297 LRCH3 Synonymous SNV T329T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.623 252842 chr12 29813776 29813776 C A rs201029987 TMTC1 Nonsynonymous SNV M327I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 252843 chr11 4123237 4123237 C T RRM1 Stop gain R12X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 252844 chr9 139907942 139907942 G A rs750511784 ABCA2 Synonymous SNV P1507P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 252845 chr1 247614723 247614723 C T rs147839044 OR2B11 Nonsynonymous SNV V188M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.626 252846 chr12 3692304 3692304 C T rs199853675 PRMT8 Synonymous SNV Y294Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.62 252847 chr12 417010 417010 G A rs148769146 KDM5A Synonymous SNV C1180C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.779 252848 chr12 422357 422357 C G rs144276601 KDM5A Synonymous SNV P967P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.557 252849 chr7 148963610 148963610 G A rs199642262 ZNF783 Nonsynonymous SNV R70H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 252850 chr1 248128981 248128981 G A rs74153216 OR2AK2 Synonymous SNV T116T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.618 252851 chr1 248487572 248487572 T C OR2M7 Nonsynonymous SNV Q100R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 252852 chr9 20923667 20923667 C T rs200166806 FOCAD Nonsynonymous SNV P954L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 252853 chr9 23704938 23704938 A G rs746168167 ELAVL2 Synonymous SNV R155R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 3.855 252854 chr9 24545431 24545431 G A IZUMO3 Nonsynonymous SNV R73W 0.002 0 0 0 2 0 0 0 0 0 0 0 31 252855 chr3 46574281 46574281 T C rs772994897 LRRC2 Synonymous SNV L203L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.466 252856 chr9 37302203 37302203 G T ZCCHC7 Nonsynonymous SNV W210L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 252857 chr12 52827666 52827666 G A rs200334341 KRT75 Synonymous SNV T141T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.251 252858 chr9 37740711 37740711 G A rs533810256 FRMPD1 Nonsynonymous SNV R729Q 0.003 0 0 0 3 0 0 0 1 0 0 0 21.7 252859 chr3 48726065 48726065 G C IP6K2 Nonsynonymous SNV L308V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 252860 chr3 49049871 49049871 C T rs535256576 WDR6 Nonsynonymous SNV R276W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 252861 chr3 49212214 49212214 C G KLHDC8B Nonsynonymous SNV A194G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.96 252862 chr9 5919748 5919748 G C rs755917200 KIAA2026 Nonsynonymous SNV P2083R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 252863 chr2 27165526 27165526 G A DPYSL5 Nonsynonymous SNV G450S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 252864 chr3 49753312 49753312 G A rs908056299 RNF123 Nonsynonymous SNV V1070I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.07 252865 chr12 53088536 53088536 G A rs201038307 KRT77 Synonymous SNV N318N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.806 252866 chr12 53169231 53169231 C T KRT76 Synonymous SNV R252R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 252867 chr3 50231609 50231609 G C GNAT1 Synonymous SNV A221A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 252868 chr2 25966814 25966814 T C rs192200822 ASXL2 Nonsynonymous SNV I538V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.002 252869 chr7 36589065 36589065 G A rs759991483 AOAH Synonymous SNV N314N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.946 252870 chr2 26671580 26671580 C T rs199574440 DRC1 Nonsynonymous SNV A473V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.26 252871 chr12 53776722 53776722 A G rs768936995 SP1 Nonsynonymous SNV T283A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.61 252872 chr12 53898188 53898188 C G rs139126157 TARBP2 Nonsynonymous SNV P123A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.644 252873 chr9 92220066 92220066 C T rs751083768 GADD45G Synonymous SNV D10D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 252874 chr3 54912868 54912868 A G CACNA2D3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 252875 chr2 29294539 29294539 C G PCARE Nonsynonymous SNV Q863H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 252876 chr3 64084699 64084699 C G rs771124563 PRICKLE2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.262 252877 chr7 51095949 51095949 G A rs762333403 COBL Synonymous SNV A948A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.205 252878 chr7 51097237 51097237 T C rs200382652 COBL Nonsynonymous SNV H519R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 252879 chr3 98309553 98309553 G A CPOX Nonsynonymous SNV S245F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 252880 chr6 167753665 167753665 G T TTLL2 Stop gain E93X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 252881 chr2 56420007 56420007 C T CCDC85A Synonymous SNV H224H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.967 252882 chr2 61447465 61447465 T C USP34 Nonsynonymous SNV N2676S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.83 252883 chrX 152830495 152830495 T C rs5986910 ATP2B3 Synonymous SNV H1092H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.359 252884 chr4 114277299 114277299 C T rs199591964 ANK2 Synonymous SNV L2509L 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 252885 chr4 114286206 114286206 G A rs143228029 ANK2 Nonsynonymous SNV V725I 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 11.88 252886 chr7 84710870 84710870 C T rs201113218 SEMA3D Nonsynonymous SNV R113Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 252887 chr7 87145885 87145885 G T rs200944013 ABCB1 Synonymous SNV I1008I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.18 252888 chr4 1210903 1210903 T C rs556928905 CTBP1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 2.328 252889 chrX 153693790 153693790 T G rs199982509 PLXNA3 Nonsynonymous SNV H756Q 0.003 0 0.007 0 3 0 0 2 1 0 1 0 9.635 252890 chr12 8988156 8988156 C T A2ML1 Synonymous SNV G179G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.83 252891 chrX 2928130 2928130 C G ARSH Nonsynonymous SNV A51G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 252892 chr4 13370254 13370254 A C rs183586599 RAB28 Nonsynonymous SNV I198M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 252893 chrX 31747750 31747750 C T rs764127932 DMD Nonsynonymous SNV R93Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 252894 chrX 44929509 44929509 T G KDM6A Nonsynonymous SNV L791R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 252895 chr13 101707629 101707629 A G rs200310713 NALCN-AS1 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 5.288 252896 chr2 98852911 98852911 G A rs781556820 VWA3B Synonymous SNV T486T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.008 252897 chrX 53561048 53561048 G A rs782813587 HUWE1 Synonymous SNV L4314L 0.003 0 0 0 3 0 0 0 1 0 0 0 9.318 252898 chr5 35712920 35712920 C T rs749580348 SPEF2 Nonsynonymous SNV P949L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.771 252899 chrX 62875470 62875470 T C rs56110425 ARHGEF9 Nonsynonymous SNV I349V 0.003 0 0 0 3 0 0 0 1 0 0 0 Likely benign 0.082 252900 chr5 39342243 39342243 T A rs41271047 C9 Nonsynonymous SNV M45L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 9.639 252901 chrX 71825392 71825392 T C PHKA1 Nonsynonymous SNV Q836R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 252902 chrX 79698867 79698867 C A rs908650103 TENT5D Nonsynonymous SNV Q277K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 252903 chr2 110303096 110303096 - GTTCG rs759008463 SEPTIN10 Frameshift insertion L458Pfs*48 0 0.003 0 0 0 1 0 0 0 0 0 0 252904 chr4 1719390 1719390 A C rs61741140 TMEM129 Synonymous SNV T231T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.001 252905 chr4 17709379 17709379 C T rs746797150 FAM184B Nonsynonymous SNV R308Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 252906 chr13 20763744 20763744 T G rs201895089 GJB2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 9.133 252907 chr4 187026361 187026361 C A rs550383428 FAM149A Nonsynonymous SNV A44E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 252908 chr5 624608 624608 C T rs375775432 CEP72 Synonymous SNV S142S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.56 252909 chr5 63986553 63986553 T C SHISAL2B Nonsynonymous SNV Y35H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.3 252910 chr13 28494571 28494571 C A rs764870332 PDX1 Nonsynonymous SNV P99H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 252911 chr13 28964209 28964209 T C rs369686634 FLT1 Nonsynonymous SNV K565E 0 0.003 0 0 0 1 0 0 0 0 0 0 18.72 252912 chr4 25125665 25125665 C T rs115959591 SEPSECS Nonsynonymous SNV R465Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.82 252913 chr4 25156687 25156687 G C rs202043298 SEPSECS Nonsynonymous SNV L212V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 252914 chr13 32913947 32913947 C T rs80358768 BRCA2 Nonsynonymous SNV P1819S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.201 252915 chr5 71496006 71496006 C T rs150487096 MAP1B Nonsynonymous SNV A2149V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.495 252916 chr2 152487306 152487306 C G NEB Nonsynonymous SNV D2973H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 252917 chr13 49884993 49884993 T C rs144245337 CAB39L Nonsynonymous SNV Y324C 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 252918 chr4 48343991 48343991 C T SLAIN2 Nonsynonymous SNV P79S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.201 252919 chr4 56284013 56284013 C T rs147314282 TMEM165 Nonsynonymous SNV T218M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 252920 chr13 77459827 77459827 C T rs947400098 KCTD12 Nonsynonymous SNV G153S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.77 252921 chr2 173885372 173885372 G A rs775819213 RAPGEF4 Nonsynonymous SNV V508I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.43 252922 chr2 179247226 179247226 C T rs963803569 OSBPL6 Nonsynonymous SNV S507F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 252923 chr8 17814242 17814242 A G PCM1 Synonymous SNV E534E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 252924 chr8 22438998 22438998 G A PDLIM2 Nonsynonymous SNV S67N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.97 252925 chr11 71720125 71720125 C T rs762537230 NUMA1 Nonsynonymous SNV R1635Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 252926 chr4 88537433 88537558 AGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAATGAAAGCAGCGACAGCAGTGACAGCAGCGATAGCAGTGACAGCAGCAAC - DSPP S1220_S1261del 0 0 0.003 0 0 0 0 1 0 0 0 0 252927 chr4 90844346 90844346 C T MMRN1 Nonsynonymous SNV T293I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 252928 chr5 102894685 102894685 C T rs376881102 NUDT12 Nonsynonymous SNV G213S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.34 252929 chr14 23862144 23862144 C G MYH6 Synonymous SNV L1076L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.89 252930 chr11 82644702 82644702 A G rs751481505 DDIAS Synonymous SNV S774S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.938 252931 chr5 123982685 123982685 C G rs138281065 ZNF608 Nonsynonymous SNV S1131T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.97 252932 chr2 219301894 219301894 C T rs34509505 VIL1 Synonymous SNV A673A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.42 252933 chr5 128320839 128320839 G A rs148544932 SLC27A6 Synonymous SNV T165T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 252934 chr3 108698418 108698418 C T rs543158461 MORC1 Synonymous SNV A807A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 252935 chr2 219920307 219920307 C T rs146055831 IHH Synonymous SNV P286P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 10.47 252936 chr14 39650773 39650773 T C rs577413396 PNN Synonymous SNV D620D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 252937 chr3 112357674 112357674 G C rs776432238 CCDC80 Nonsynonymous SNV T360R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.519 252938 chr8 72952029 72952029 T C rs201271758 TRPA1 Nonsynonymous SNV M689V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 252939 chr12 113593082 113593082 G A CFAP73 Synonymous SNV Q236Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.738 252940 chr5 140175800 140175800 C A rs782215868 PCDHA2 Nonsynonymous SNV S417R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.281 252941 chr14 55615329 55615329 C T rs531474267 DLGAP5 Nonsynonymous SNV R831Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.077 252942 chr12 104341206 104341206 A C rs753493088 HSP90B1 Nonsynonymous SNV K794Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.71 252943 chr14 58958880 58958880 G A KIAA0586 Nonsynonymous SNV E1153K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 252944 chr2 232458606 232458606 G A rs139694852 TEX44 Nonsynonymous SNV S315N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.777 252945 chr2 233712210 233712233 CAGCAGCAGCAGCTGCCACAGCAG - rs760580898 GIGYF2 L1203_Q1210del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 252946 chr5 1432617 1432617 G A rs764540812 SLC6A3 Synonymous SNV N205N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.222 252947 chr2 234243670 234243670 A G rs754349570 SAG Nonsynonymous SNV N290S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 252948 chr3 127642468 127642468 A G rs779298064 KBTBD12 Nonsynonymous SNV I188M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 252949 chr3 129034357 129034357 G A H1-10 Nonsynonymous SNV A130V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 252950 chr12 111757847 111757847 C G CUX2 Nonsynonymous SNV S616R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.162 252951 chr5 149754952 149754952 C T rs779629697 TCOF1 Synonymous SNV G436G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.18 252952 chr12 111885301 111885301 C T rs762026350 SH2B3 Nonsynonymous SNV R195W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 252953 chr12 112150408 112150408 C T rs145407775 ACAD10 Nonsynonymous SNV P266L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 252954 chr14 74874301 74874301 G A rs757137726 SYNDIG1L Synonymous SNV A218A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 252955 chr14 76427349 76427349 C T TGFB3 Nonsynonymous SNV V333I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.21 252956 chr3 138289925 138289927 ATG - rs777079626 CEP70 S58del 0.001 0 0 0 1 0 0 0 0 0 0 0 252957 chr12 120512253 120512253 C T BICDL1 Nonsynonymous SNV R439W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 252958 chr5 168093513 168093513 C T rs558199905 SLIT3 Synonymous SNV S1513S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 252959 chr5 171785832 171785832 C T rs138884377 SH3PXD2B Synonymous SNV T204T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.23 252960 chr5 172382133 172382135 TTT - LOC100268168 0 0 0.02 0 0 0 0 6 0 0 1 0 252961 chr12 123345885 123345885 G A rs376560982 HIP1R Nonsynonymous SNV E995K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.9 252962 chr14 99697835 99697835 G A BCL11B Nonsynonymous SNV H162Y 0 0.003 0 0 0 1 0 0 0 0 0 0 19.8 252963 chr15 39909950 39909950 T C FSIP1 Nonsynonymous SNV E562G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 252964 chr5 40832793 40832793 A G rs368803984 SNORD72 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 252965 chr3 42799803 42799803 C T rs777222114 CCDC13 Nonsynonymous SNV R12Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 252966 chr5 434210 434210 C T rs61757545 AHRR Nonsynonymous SNV P456L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 252967 chr3 44541524 44541524 C A rs773815745 ZNF852 Nonsynonymous SNV A249S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 252968 chr9 139836132 139836132 G C rs1052568634 FBXW5 Nonsynonymous SNV I367M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 252969 chr12 53775999 53775999 A G rs747502519 SP1 Nonsynonymous SNV T83A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.199 252970 chr9 140086964 140086964 G A rs762070323 TPRN Synonymous SNV P635P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.951 252971 chr15 49800496 49800496 G T rs73400279 FAM227B Synonymous SNV L274L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.414 252972 chr15 50158557 50158557 T A rs61731575 ATP8B4 Nonsynonymous SNV Q1051L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 252973 chr15 50474833 50474833 C T rs62623668 SLC27A2 Nonsynonymous SNV P70L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 252974 chr5 72427553 72427553 C T rs751210399 TMEM171 Nonsynonymous SNV P323L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 252975 chr15 52188672 52188672 T C TMOD3 Synonymous SNV H228H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.057 252976 chr15 52258440 52258440 T G rs781194468 LEO1 Nonsynonymous SNV H107P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.7 252977 chr3 51737936 51737936 G A TEX264 Synonymous SNV G208G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.831 252978 chr3 52264081 52264081 C T rs768839683 TWF2 Synonymous SNV L205L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 252979 chr3 53906528 53906528 G A rs374523447 ACTR8 Synonymous SNV P395P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.324 252980 chr5 80419506 80419506 C A rs61759866 RASGRF2 Nonsynonymous SNV S839Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.33 252981 chr15 63950869 63950869 C T HERC1 Nonsynonymous SNV G3158E 0 0.003 0 0 0 1 0 0 0 0 0 0 33 252982 chr15 65113692 65113692 G T rs142761824 PIF1 Nonsynonymous SNV A282D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.23 252983 chr15 65226376 65226376 C T rs148267097 ANKDD1A Nonsynonymous SNV S270L 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 20.2 252984 chr3 58855170 58855170 G T rs752355741 C3orf67 Nonsynonymous SNV S245Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.97 252985 chr3 71247192 71247192 T G FOXP1 Synonymous SNV R70R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.038 252986 chr5 96077005 96077005 G C CAST Nonsynonymous SNV L181F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 252987 chr6 107390913 107390913 C T rs542682427 BEND3 Synonymous SNV P494P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.275 252988 chr15 73996231 73996231 A G CD276 Nonsynonymous SNV N176S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 252989 chr9 79234255 79234255 - T PRUNE2 0.001 0 0 0 1 0 0 0 0 0 0 0 252990 chr15 81295134 81295134 C G rs554668980 TLNRD1 Nonsynonymous SNV D174E 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.52 252991 chr15 81517990 81517990 G T rs370711144 IL16 Nonsynonymous SNV A84S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.046 252992 chr12 5672719 5672719 G A rs201870276 ANO2 Synonymous SNV L915L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.674 252993 chr6 126661586 126661586 G A rs777804656 CENPW Nonsynonymous SNV G56E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.191 252994 chr8 144810498 144810498 - GCGAGAGCG FAM83H S377_R378insPLS 0 0 0 1 0 0 0.003 0 0 0 0 0 252995 chr15 89021148 89021148 A G rs149376629 MRPS11 Nonsynonymous SNV I142V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 252996 chrX 134713832 134713832 C G INTS6L Nonsynonymous SNV P710A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 252997 chr13 113750702 113750702 G T rs758716883 MCF2L Synonymous SNV T993T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.081 252998 chr15 93015426 93015426 G A rs147517428 C15orf32 0 0.003 0 0 0 1 0 0 0 0 0 0 1.564 252999 chr6 152419976 152419976 C T rs754403698 ESR1 Nonsynonymous SNV R555C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 253000 chrX 18183282 18183282 C T rs150252640 BEND2 Synonymous SNV S749S 0.002 0 0 0 2 0 0 0 1 0 0 0 15.07 253001 chr6 157505478 157505478 G A rs61745451 ARID1B Synonymous SNV E443E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.27 253002 chr12 88553961 88553961 A G TMTC3 Synonymous SNV T120T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.361 253003 chr6 159653641 159653641 G A rs200527903 FNDC1 Synonymous SNV R699R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.884 253004 chr3 145824401 145824401 C T rs143513488 PLOD2 Nonsynonymous SNV R178H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.8 253005 chr6 160183205 160183205 C T SOD2-OT1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.57 253006 chr6 160201521 160201523 CTT - rs746657080 TCP1 E195del 0 0 0.003 0 0 0 0 1 0 0 0 0 253007 chrX 49021310 49021310 G A rs187713478 MAGIX Nonsynonymous SNV R130H 0.003 0 0.003 0 4 0 0 1 1 0 0 0 24.7 253008 chrX 50037913 50037913 T C rs185845142 CCNB3 Synonymous SNV F85F 0.003 0 0 0 4 0 0 0 1 0 0 0 0.003 253009 chrX 70674678 70674678 C G rs776273169 TAF1 Nonsynonymous SNV P1637A 0.003 0 0 0 4 0 0 0 1 0 0 0 23.5 253010 chrX 71425298 71425298 C T rs772332054 ERCC6L Nonsynonymous SNV V1107M 0.003 0 0 0 4 0 0 0 1 0 0 0 23 253011 chr16 1825321 1825321 G A rs141898850 EME2 Nonsynonymous SNV R192H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 253012 chr6 2117775 2117775 G T GMDS Synonymous SNV R25R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 253013 chr6 22294813 22294813 C T rs769964165 PRL Nonsynonymous SNV G10E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 253014 chr16 21048162 21048162 T C rs147656718 DNAH3 Nonsynonymous SNV I1607M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 253015 chr6 26413678 26413678 G A rs201679795 BTN3A1 Nonsynonymous SNV G382R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 253016 chr16 216075 216075 G A rs150873041 HBM Nonsynonymous SNV E27K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 253017 chr16 2222573 2222573 A G TRAF7 Nonsynonymous SNV H256R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 253018 chr6 2836181 2836181 C T rs144562805 SERPINB1 Nonsynonymous SNV R215H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 253019 chr13 20426168 20426168 C T rs115485106 ZMYM5 Synonymous SNV V51V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.581 253020 chr16 24802143 24802143 C G TNRC6A Nonsynonymous SNV P727R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 253021 chr7 27168888 27168888 G A rs753922042 HOXA4 Nonsynonymous SNV H307Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.92 253022 chr6 3456405 3456405 C T rs954566589 SLC22A23 Nonsynonymous SNV G130E 0 0 0.003 0 0 0 0 1 0 0 0 0 17 253023 chr16 30664051 30664051 G A rs764135927 PRR14 Nonsynonymous SNV V68M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.433 253024 chr16 3293407 3293407 T C rs61752717 MEFV Nonsynonymous SNV M694V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 253025 chr6 36953716 36953716 G A rs775912363 MTCH1 Synonymous SNV A78A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.034 253026 chr4 2252824 2252824 G T rs202142366 MXD4 Nonsynonymous SNV D153E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 253027 chr6 44233262 44233262 G A rs28385697 NFKBIE Nonsynonymous SNV A80V 0 0 0.01 0 0 0 0 3 0 0 0 0 21.3 253028 chr6 52138549 52138549 C T rs41273732 MCM3 Nonsynonymous SNV D233N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.2 253029 chr16 66551711 66551711 G A rs143378852 TK2 Synonymous SNV D148D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.998 253030 chr14 103406281 103406281 G A rs202016085 CDC42BPB Nonsynonymous SNV A1532V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 253031 chr6 56323894 56323894 C A DST Nonsynonymous SNV G5142V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 253032 chr7 72873939 72873939 C T rs781987381 BAZ1B Nonsynonymous SNV R1120K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.57 253033 chr6 64499063 64499063 T C rs781576158 EYS Nonsynonymous SNV Y2489C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 253034 chr4 26426005 26426005 C T rs148972743 RBPJ Synonymous SNV L158L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.46 253035 chr16 72822564 72822572 TGCTGCTGC - rs772042347 ZFHX3 Q2288_Q2290del 0 0.003 0 0 0 1 0 0 0 0 0 0 253036 chr16 74708882 74708882 G A rs940763334 MLKL Nonsynonymous SNV P245S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 253037 chr11 62343264 62343264 G C rs761919342 TUT1 Nonsynonymous SNV R643G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 253038 chr5 173035297 173035297 - TAGGAAGTGTCCTGGGATGGAGCTGG rs770073389 BOD1 0 0 0 1 0 0 0.003 0 0 0 0 0 253039 chr16 841874 841874 G C rs367916369 CHTF18 Synonymous SNV P376P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.51 253040 chr16 84215974 84215974 C T rs34495611 TAF1C Synonymous SNV S185S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 253041 chr16 84224955 84224955 A C rs202112181 ADAD2 Nonsynonymous SNV Q40P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.092 253042 chr16 84229430 84229430 C A rs148466418 ADAD2 Synonymous SNV P354P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.115 253043 chr4 71347207 71347207 T C rs78564790 MUC7 Nonsynonymous SNV L249P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 253044 chr4 71554620 71554625 GAGGAG - rs756216791 UTP3 E80_E81del 0 0.003 0 0 0 1 0 0 0 0 0 0 253045 chr16 87678456 87678456 C T rs747066238 JPH3 Synonymous SNV C325C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.74 253046 chr14 89016626 89016626 G A PTPN21 Stop gain Q46X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 36 253047 chr14 34145542 34145542 C T rs141006794 NPAS3 Synonymous SNV D198D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.154 253048 chr10 70056677 70056677 G A rs61729368 PBLD Synonymous SNV I50I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 253049 chr10 70987096 70987096 C T rs74138158 HKDC1 Nonsynonymous SNV T66I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 253050 chr11 6579219 6579219 C T DNHD1 Synonymous SNV H2898H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.114 253051 chr7 102782135 102782135 T C rs542253565 RPL19P12 0 0 0.003 0 0 0 0 1 0 0 0 0 6.28 253052 chr10 696271 696271 C T PRR26 Nonsynonymous SNV A74V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.05 253053 chr10 72291176 72291176 G A rs760183959 PALD1 Nonsynonymous SNV R200Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 253054 chr10 72360577 72360577 G A rs141660796 PRF1 Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 253055 chr14 52922087 52922087 T G rs750295072 TXNDC16 Synonymous SNV A594A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.294 253056 chr7 113518880 113518880 G A rs151310594 PPP1R3A Nonsynonymous SNV P756L 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 27 253057 chr7 115897433 115897433 G T TES Nonsynonymous SNV C388F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 253058 chr16 89857842 89857842 G C rs367733447 FANCA Nonsynonymous SNV S443C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.1 253059 chr10 73461883 73461883 C T rs55918133 CDH23 Synonymous SNV R834R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.27 253060 chr7 121651086 121651086 A G rs768670668 PTPRZ1 Synonymous SNV A662A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 253061 chr7 122338081 122338081 A G rs761393608 RNF133 Nonsynonymous SNV C298R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 253062 chr10 79397367 79397367 - GCTGCCGCCGCCGCC KCNMA1 S11_S12insGGGGS 0.001 0 0 0 1 0 0 0 0 0 0 0 253063 chr17 11696895 11696895 C A rs760609171 DNAH9 Synonymous SNV R2713R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 253064 chr17 12901743 12901743 T C rs962470752 ELAC2 Synonymous SNV T462T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.205 253065 chr17 15234703 15234703 G A rs138232646 TEKT3 Nonsynonymous SNV P67L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 253066 chr7 131815309 131815309 C T rs772611297 PLXNA4 Nonsynonymous SNV D1872N 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 253067 chr17 18188555 18188555 T G TOP3A Nonsynonymous SNV K498T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 253068 chr17 19641709 19641709 C T rs368634302 ALDH3A1 Nonsynonymous SNV R425H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 253069 chr4 141317054 141317054 A G rs200382827 CLGN Synonymous SNV G356G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.043 253070 chr7 148801378 148801378 C T rs61753417 ZNF425 Nonsynonymous SNV A529T 0 0 0.007 0 0 0 0 2 0 0 0 0 3.805 253071 chr17 263096 263096 C A C17orf97 Synonymous SNV P154P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.88 253072 chr7 149255765 149255765 G A rs577905887 ZNF767P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.744 253073 chr7 149480006 149480006 G A SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 1.84 253074 chr17 26732944 26732944 C A rs41297071 SLC46A1 Nonsynonymous SNV R63S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.85 253075 chr7 1525071 1525071 C G rs200828819 INTS1 Nonsynonymous SNV R1004P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 253076 chr15 55653038 55653038 T A CCPG1 Nonsynonymous SNV R311S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.2 253077 chr7 155599414 155599414 G A rs4716913 SHH Synonymous SNV P10P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.855 253078 chr15 57731302 57731302 A G rs61745351 CGNL1 Nonsynonymous SNV R369G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.2 253079 chr7 157202657 157202657 G A rs368078459 DNAJB6 Nonsynonymous SNV R172Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.06 253080 chr15 101448649 101448649 A G ALDH1A3 Synonymous SNV P369P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.507 253081 chr17 3634458 3634458 C T ITGAE Stop gain W925X 0 0.003 0 0 0 1 0 0 0 0 0 0 49 253082 chr12 107372146 107372146 C G rs1019908661 MTERF2 Nonsynonymous SNV R116T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 253083 chr7 2697987 2697987 C T rs776602745 TTYH3 Nonsynonymous SNV R440C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 253084 chr7 27135445 27135445 G C rs370896322 HOXA1 Synonymous SNV P29P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.515 253085 chr7 27192627 27192627 A C rs907413799 HOXA-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 3.428 253086 chr6 16145329 16145329 C T rs757600935 MYLIP Synonymous SNV N343N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 253087 chr7 34888228 34888228 C T rs139125527 NPSR1 Synonymous SNV N260N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.06 253088 chr8 62412073 62412073 A C rs775052625 CLVS1 Nonsynonymous SNV N346T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.97 253089 chr15 76225164 76225164 G C rs150887253 FBXO22 Synonymous SNV A311A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.99 253090 chr7 40134407 40134407 A C rs778302577 CDK13 Nonsynonymous SNV K1456T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 253091 chr8 70971040 70971040 C T rs118009321 PRDM14 Synonymous SNV K407K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 12.06 253092 chr15 42727599 42727599 G A rs112069903 ZNF106 Nonsynonymous SNV R784C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 253093 chr5 42711343 42711343 A G rs762344584 GHR Nonsynonymous SNV Y196C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 253094 chr17 40481662 40481662 G C rs143571879 STAT3 Synonymous SNV S381S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.85 253095 chr7 5415812 5415812 G T rs764968026 TNRC18 Synonymous SNV A884A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.489 253096 chr7 54636899 54636899 C T VSTM2A Nonsynonymous SNV P237L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 253097 chr12 130922974 130922974 G A rs755352610 RIMBP2 Nonsynonymous SNV T514M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 253098 chr5 68410263 68410263 C G rs147340422 SLC30A5 Nonsynonymous SNV D184E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 253099 chr11 123908971 123908971 C T rs142080661 OR10G7 Synonymous SNV V246V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.907 253100 chr9 105767917 105767917 C T rs142695278 CYLC2 Nonsynonymous SNV A335V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.202 253101 chr7 75614426 75614426 C A POR Synonymous SNV I433I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 253102 chr12 18876450 18876450 T C PLCZ1 Synonymous SNV R54R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.699 253103 chr17 46620685 46620685 C A rs377569271 HOXB2 Synonymous SNV A272A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.15 253104 chr10 118357410 118357410 C T rs781937436 PNLIPRP1 Synonymous SNV D215D 0 0 0 2 0 0 0.005 0 0 0 0 0 12.1 253105 chr17 48050588 48050588 C G rs769369952 DLX4 Synonymous SNV P73P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.05 253106 chr5 81601230 81601230 T C rs72778536 ATP6AP1L Nonsynonymous SNV W4R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 253107 chr16 1143577 1143577 T C rs140306414 C1QTNF8 Nonsynonymous SNV N228S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.86 253108 chr6 54214634 54214634 C A rs780197348 TINAG Nonsynonymous SNV N340K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 253109 chr7 98479282 98479282 A T rs149626867 MIR3609 0 0 0.007 0 0 0 0 2 0 0 0 0 3.905 253110 chr7 99023199 99023199 C T rs1025806354 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R319Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 253111 chr5 90101248 90101248 G T rs930892473 ADGRV1 Nonsynonymous SNV V4937F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.8 253112 chr17 4876185 4876185 C T CAMTA2 Synonymous SNV L796L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.48 253113 chr5 90136423 90136423 G A rs200907244 ADGRV1 Nonsynonymous SNV R5547H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24 253114 chr5 94957045 94957045 C T rs185804545 GPR150 Stop gain Q356X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 40 253115 chr11 16838758 16838758 C T rs35497498 PLEKHA7 Synonymous SNV S485S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.89 253116 chr16 1394022 1394022 G A BAIAP3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 253117 chr9 123794427 123794427 T C C5 Nonsynonymous SNV T217A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.1 253118 chr9 124535668 124535668 C G DAB2IP Nonsynonymous SNV A830G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.17 253119 chr11 17631990 17631990 A G OTOG Nonsynonymous SNV R1727G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.029 253120 chr9 125288826 125288826 G A rs758553387 OR1N1 Synonymous SNV F249F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.85 253121 chr16 1576739 1576739 C T IFT140 Nonsynonymous SNV A820T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 253122 chr17 56643108 56643108 C A TEX14 Nonsynonymous SNV D1322Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 253123 chr6 80222971 80222971 A C rs199824951 LCA5 Synonymous SNV V226V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.07 253124 chr17 60042569 60042569 T C rs140673828 MED13 Nonsynonymous SNV S1548G 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Benign 12.17 253125 chr15 79603760 79603760 G A rs141194056 TMED3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 253126 chr8 117887699 117887699 A G rs16889209 RAD21-AS1 0 0 0.014 0 0 0 0 4 0 0 1 0 0.662 253127 chr6 90371234 90371234 C T rs147212241 MDN1 Nonsynonymous SNV E4877K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 253128 chr16 2124203 2124203 C T rs372834284 TSC2 Synonymous SNV R586R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.34 253129 chr8 125565768 125565768 C T rs183644518 MTSS1 Nonsynonymous SNV G513E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 253130 chr5 125887798 125887798 G A rs780233639 ALDH7A1 Nonsynonymous SNV P347L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 253131 chr17 66871845 66871845 G A rs182925368 ABCA8 Nonsynonymous SNV T1427M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 253132 chr15 88670431 88670431 T C NTRK3 Nonsynonymous SNV I419V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.75 253133 chr8 144873362 144873362 G A rs374881903 SCRIB Nonsynonymous SNV R1622C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 253134 chr12 53647353 53647353 C T rs149660360 MFSD5 Nonsynonymous SNV S352L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 253135 chr11 45248101 45248101 G A rs769005959 PRDM11 Nonsynonymous SNV R642Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 253136 chr6 135518250 135518250 A G rs370481986 MYB Nonsynonymous SNV N452S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 253137 chr16 347873 347873 G A rs199666954 AXIN1 Nonsynonymous SNV R545W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 253138 chr8 145660978 145660978 C T MIR6893 0 0 0.003 0 0 0 0 1 0 0 0 0 5.334 253139 chr8 17731586 17731586 G A FGL1 Synonymous SNV V148V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 253140 chr8 17830028 17830028 G C PCM1 Nonsynonymous SNV E1259Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 253141 chr16 1831467 1831467 C T rs201090527 SPSB3 Synonymous SNV R6R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.26 253142 chr17 76803141 76803141 G A rs748601527 USP36 Nonsynonymous SNV T662M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 253143 chr16 2043019 2043019 C T rs370351437 SYNGR3 Synonymous SNV P212P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.43 253144 chr8 32505719 32505719 G A rs751382559 NRG1 Synonymous SNV K161K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 253145 chr8 37797497 37797497 C T GOT1L1 Synonymous SNV E17E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 253146 chr7 635796 635796 C T rs200069843 PRKAR1B Nonsynonymous SNV R232Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 253147 chr11 5536764 5536764 A C rs201997389 UBQLNL Nonsynonymous SNV L303R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 253148 chr17 80280056 80280056 G A rs145723287 SECTM1 Nonsynonymous SNV P243L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 253149 chr8 6338338 6338338 C T rs376996626 MCPH1 Nonsynonymous SNV R693C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 253150 chr8 6479160 6479160 C A MCPH1 Stop gain Y707X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 253151 chr8 65536983 65536983 T G rs372624152 CYP7B1 Nonsynonymous SNV D79A 0 0 0.007 0 0 0 0 2 0 0 0 0 28.7 253152 chr17 8393828 8393828 C T rs200997387 MYH10 Nonsynonymous SNV V1541M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 253153 chr8 71553143 71553145 AAT - LACTB2 I245del 0 0 0.003 0 0 0 0 1 0 0 0 0 253154 chr8 72973872 72973872 G T rs561796522 TRPA1 Nonsynonymous SNV T311N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.8 253155 chr8 86376468 86376468 G C rs1044656742 CA3-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.828 253156 chr8 8749785 8749785 G A rs201843715 MFHAS1 Synonymous SNV L262L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.237 253157 chr6 13625942 13625942 G C rs758773635 RANBP9 Nonsynonymous SNV Q668E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 253158 chr18 29412105 29412105 A C rs150996649 TRAPPC8 Nonsynonymous SNV S1339A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 253159 chr18 33271133 33271133 A G rs774392647 GALNT1 Nonsynonymous SNV N379S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 253160 chr6 24839479 24839479 T C rs755820397 RIPOR2 Nonsynonymous SNV S627G 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 253161 chr6 26199441 26199441 C T rs201905916 H2AC7 Nonsynonymous SNV A11T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.84 253162 chr13 113333910 113333910 C A rs138886345 ATP11AUN 0.001 0 0 0 1 0 0 0 0 0 0 0 3.933 253163 chr9 109685734 109685734 C G ZNF462 Nonsynonymous SNV Q24E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 253164 chr9 109691590 109691590 C T rs761807857 ZNF462 Synonymous SNV H1799H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.272 253165 chr18 46476735 46476735 G A SMAD7 Synonymous SNV G20G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 253166 chr18 47788478 47788478 G A rs550993731 CFAP53 Nonsynonymous SNV R61C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 253167 chr9 115759421 115759421 T C rs774651731 ZNF883 Synonymous SNV R373R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.338 253168 chr16 67976321 67976321 G A rs778180616 LCAT Synonymous SNV I231I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.35 253169 chr9 116823784 116823784 G A AMBP Nonsynonymous SNV T258I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.083 253170 chr18 56196382 56196382 A G rs370550387 ALPK2 Synonymous SNV H1814H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.131 253171 chrX 139174351 139174351 C G rs1052016619 LOC389895 Synonymous SNV P150P 0.003 0 0 2 4 0 0.005 0 1 0 0 1 4.363 253172 chr9 123778599 123778599 G C rs56371452 C5 Synonymous SNV A649A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.335 253173 chrX 150840226 150840226 A G rs758863642 PASD1 Nonsynonymous SNV Q471R 0.002 0 0 2 2 0 0.005 0 0 0 0 1 11.58 253174 chr18 61151697 61151697 C T rs2292294 SERPINB5 Synonymous SNV A12A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.11 253175 chr9 125047527 125047527 G A rs372875280 MRRF Synonymous SNV S88S 0 0 0.003 0 0 0 0 1 0 0 0 0 14 253176 chr11 21596539 21596539 G A rs201257099 NELL1 Nonsynonymous SNV V745M 0 0.005 0 2 0 2 0.005 0 0 0 0 0 28.3 253177 chr11 60620259 60620259 G A rs371953294 PTGDR2 Nonsynonymous SNV R313C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 253178 chr6 45459830 45459830 C G RUNX2 Nonsynonymous SNV Q266E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 253179 chr13 42874688 42874688 G C rs771119718 AKAP11 Nonsynonymous SNV Q602H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 253180 chr11 35016535 35016535 C T rs750513249 PDHX Nonsynonymous SNV A214V 0 0 0 2 0 0 0.005 0 0 0 0 0 31 253181 chrX 41469223 41469223 G A CASK Synonymous SNV C357C 0.003 0 0 2 3 0 0.005 0 0 0 0 1 9.433 253182 chrX 43639594 43639594 C T MAOB Synonymous SNV E358E 0.002 0 0 2 2 0 0.005 0 0 0 0 1 12.96 253183 chrX 47107238 47107238 G A rs765036191 USP11 Nonsynonymous SNV R891Q 0.002 0 0 2 2 0 0.005 0 0 0 0 1 12.12 253184 chr6 55266609 55266609 A G rs202021830 GFRAL Synonymous SNV K381K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.069 253185 chr6 55924839 55924839 C T rs375936410 COL21A1 Nonsynonymous SNV R260H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 253186 chr6 56915616 56915616 T C rs139590457 KIAA1586 Synonymous SNV C50C 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.06 253187 chr19 10088299 10088299 C T rs370189164 COL5A3 Nonsynonymous SNV V1033I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.663 253188 chr17 19319072 19319072 C T RNF112 Nonsynonymous SNV R494W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 253189 chr7 92762000 92762000 T C rs79858266 SAMD9L Synonymous SNV K1095K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.032 253190 chr6 76024877 76024877 C T rs764835248 FILIP1 Nonsynonymous SNV R224H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 253191 chr19 10664776 10664776 C G rs772556589 KRI1 Nonsynonymous SNV A655P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 253192 chr11 64627617 64627617 C A rs142323286 EHD1 Nonsynonymous SNV V232L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 253193 chr6 88376827 88376827 T G ORC3 Nonsynonymous SNV W565G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 253194 chr9 138516385 138516385 C T rs138281407 GLT6D1 Nonsynonymous SNV R130Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 253195 chr6 96054069 96054069 C T rs150823996 MANEA Nonsynonymous SNV R393C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 253196 chr19 12386862 12386862 G A rs200433347 ZNF44 Synonymous SNV F13F 0 0.005 0 0 0 2 0 0 0 0 0 0 12.5 253197 chr19 13368284 13368284 G A CACNA1A Synonymous SNV Y1491Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.966 253198 chr6 105609396 105609396 G A rs758481816 POPDC3 Nonsynonymous SNV A130V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 253199 chr6 106899537 106899537 T C LOC105377924 0 0.003 0 0 0 1 0 0 0 0 0 0 3.473 253200 chr19 14083909 14083909 C T rs756247506 RFX1 Synonymous SNV T320T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.76 253201 chr9 140151386 140151386 C T NELFB Synonymous SNV D207D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 253202 chr17 16256492 16256492 G A rs201815751 CENPV Nonsynonymous SNV P87S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 14.92 253203 chr9 140732963 140732963 C T rs116636751 MIR602 0 0 0.007 0 0 0 0 2 0 0 0 0 3.712 253204 chr9 19521052 19521052 - ATATATACATGTGATGTATTGGGGTGTTTTGTTTATTATCATTACCATTACTAAAATATAGATAT SLC24A2 Stop gain E509Ifs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 253205 chr9 2056740 2056740 A G SMARCA2 Synonymous SNV A414A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.273 253206 chr9 20885216 20885216 C T rs187654100 FOCAD Nonsynonymous SNV A871V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 22.6 253207 chr9 21974695 21974695 G - CDKN2A Stop gain Y44* 0 0 0.003 0 0 0 0 1 0 0 0 0 253208 chr7 100808076 100808076 T C rs767562242 VGF Nonsynonymous SNV I17V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.93 253209 chr19 17397459 17397460 GT - ANKLE1 C590Ffs*34 0 0.003 0 1 0 1 0.003 0 0 0 0 0 253210 chr19 17412000 17412000 - CTGCCG rs779677388 ABHD8 G145_G146insSG 0 0.003 0 0 0 1 0 0 0 0 0 0 253211 chr17 38027030 38027030 C G rs35591738 ZPBP2 Nonsynonymous SNV P46A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 25.8 253212 chr7 105655615 105655615 C T rs141860028 CDHR3 Nonsynonymous SNV T340M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.41 253213 chr19 17450398 17450398 G C rs372174278 GTPBP3 Nonsynonymous SNV A354P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 30 253214 chr9 34255823 34255823 C G rs76716576 KIF24 Nonsynonymous SNV R1261T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 18.61 253215 chr9 34971553 34971553 C T rs16932104 PHF24 Synonymous SNV R86R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 253216 chr9 35043642 35043642 C T rs61742473 C9orf131 Nonsynonymous SNV P304L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.365 253217 chr9 35043935 35043935 C G rs35523761 C9orf131 Nonsynonymous SNV L402V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.023 253218 chr11 73570975 73570975 T C rs199857311 MRPL48 Nonsynonymous SNV I132T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.313 253219 chr19 17954247 17954247 C T rs143586866 JAK3 Nonsynonymous SNV R121H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.4 253220 chr9 35846469 35846469 C T rs116362403 TMEM8B Nonsynonymous SNV R244C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.01 253221 chr9 35846541 35846541 G A rs76908268 TMEM8B Nonsynonymous SNV A268T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.85 253222 chr9 4286395 4286395 G A rs773069755 GLIS3 Nonsynonymous SNV H11Y 0 0 0.003 2 0 0 0.005 1 0 0 0 1 Uncertain significance 22.3 253223 chr9 72755177 72755177 C T rs148444015 MAMDC2 Nonsynonymous SNV R371W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 253224 chr9 72893487 72893487 - CACAAATAT rs781506116 SMC5 H212_C213insKYH 0 0 0.003 0 0 0 0 1 0 0 0 0 253225 chr11 7727897 7727897 G C rs758875994 OVCH2 Synonymous SNV V15V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.565 253226 chr9 738491 738491 G T rs771879466 KANK1 Synonymous SNV L924L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 253227 chr10 15263056 15263056 G A rs1036744573 FAM171A1 Nonsynonymous SNV T253M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 253228 chr19 29703911 29703911 C T UQCRFS1 Nonsynonymous SNV E39K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.749 253229 chr9 79875103 79875103 C G VPS13A Nonsynonymous SNV P797R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 253230 chr14 55604768 55604768 T C rs188973411 LGALS3 Synonymous SNV H8H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.391 253231 chr9 91617047 91617047 G A S1PR3 Nonsynonymous SNV R311H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 253232 chr11 62751977 62751977 C T rs11568625 SLC22A6 Synonymous SNV G62G 0 0 0 2 0 0 0.005 0 0 0 0 0 9.122 253233 chr9 94487105 94487105 C G ROR2 Synonymous SNV S557S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.78 253234 chrM 1600 1600 G A RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 253235 chrM 1705 1705 C T RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 253236 chr17 36476646 36476646 C T rs147446793 MRPL45 Nonsynonymous SNV R219W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 253237 chrM 2641 2641 C T RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 253238 chrUn_gl000220 118545 118545 T - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.007 0 0 0 0 2 0 0 0 0 253239 chrUn_gl000220 122141 122141 - TCCTCCTCC LOC100507412 0 0 0.024 0 0 0 0 7 0 0 0 0 253240 chr11 64367924 64367924 C T rs545024143 SLC22A12 Synonymous SNV S349S 0 0 0 2 0 0 0.005 0 0 0 0 0 16.3 253241 chr19 35530580 35530580 G A rs150721582 SCN1B Nonsynonymous SNV C211Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 253242 chr11 94731683 94731683 C T rs143935865 KDM4D Nonsynonymous SNV R383W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 253243 chr17 4436686 4436686 C T SPNS2 Synonymous SNV L413L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 253244 chrX 10423076 10423076 G A rs138629923 MID1 Synonymous SNV L497L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.762 253245 chr7 1785667 1785667 G C rs536488472 ELFN1 Nonsynonymous SNV G479R 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.2 253246 chrX 117480536 117480536 C G rs767206778 WDR44 Nonsynonymous SNV P24A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 253247 chr7 4169683 4169683 C T rs779117987 SDK1 Synonymous SNV N1361N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.27 253248 chr19 36515514 36515514 C T rs200125073 CLIP3 Synonymous SNV P234P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.11 253249 chrX 123556459 123556459 T G rs144694853 TENM1 Synonymous SNV A1371A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.48 253250 chr14 72961875 72961875 G A rs746670932 RGS6 Synonymous SNV T255T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 253251 chr7 6226741 6226741 C T rs768308624 CYTH3 Synonymous SNV T63T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.81 253252 chrX 153660787 153660787 G A rs140841742 ATP6AP1 Nonsynonymous SNV R180H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 253253 chrX 154261714 154261714 C T rs782780466 FUNDC2 Nonsynonymous SNV A57V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 253254 chrX 27481252 27481252 T G rs980674437 PPP4R3C Synonymous SNV S54S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 253255 chr10 55587191 55587191 - GGCGGAGGCGGC PCDH15 P1372_G1373insPPPP 0 0 0 1 0 0 0.003 0 0 0 0 0 253256 chr17 59466052 59466052 C T rs763762079 BCAS3 Synonymous SNV C911C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 21.5 253257 chr12 121454187 121454187 T C rs146925499 C12orf43 Nonsynonymous SNV M31V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 253258 chr12 121476596 121476596 C T rs749591065 OASL Nonsynonymous SNV R60Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 253259 chr19 4180901 4180901 G A rs34786277 SIRT6 Synonymous SNV F24F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 253260 chr7 37955714 37955714 G A rs145633853 SFRP4 Synonymous SNV I142I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 253261 chr19 42402623 42402623 G A rs202008400 ARHGEF1 Nonsynonymous SNV R352Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.3 253262 chr10 70719951 70719951 G T DDX21 Synonymous SNV P91P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.376 253263 chr10 70992808 70992808 G A HKDC1 Nonsynonymous SNV M138I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 253264 chr14 96178689 96178689 G A rs142911529 TCL1A Synonymous SNV D55D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.202 253265 chrX 73062762 73062762 G A XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 3.655 253266 chr12 12618514 12618514 T C rs765412763 BORCS5 Nonsynonymous SNV M84T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 253267 chr12 129694074 129694074 G A rs145352969 TMEM132D Synonymous SNV D478D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.39 253268 chr10 75560879 75560879 G A rs199673176 ZSWIM8 Nonsynonymous SNV A1746T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 253269 chr10 76789310 76789310 C G KAT6B Synonymous SNV T795T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.027 253270 chr10 102766725 102766725 C T LZTS2 Stop gain Q384X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 253271 chr10 105344848 105344848 T C NEURL1 Nonsynonymous SNV V402A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.09 253272 chr10 105484051 105484051 G A rs150735790 SH3PXD2A Synonymous SNV P125P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 253273 chr10 105990536 105990536 C G rs371115024 CFAP43 Nonsynonymous SNV C44S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 253274 chr7 73932630 73932630 C T GTF2IRD1 Nonsynonymous SNV R227C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 253275 chr19 45858047 45858047 C T rs142568756 ERCC2 Nonsynonymous SNV V536M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 253276 chr19 46095003 46095003 G A GPR4 Nonsynonymous SNV A41V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.2 253277 chr19 46145528 46145528 G A EML2 Synonymous SNV D85D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.67 253278 chr19 46973482 46973482 A G rs767725245 PNMA8A Synonymous SNV L271L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.692 253279 chr17 73570713 73570713 C G LLGL2 Nonsynonymous SNV I992M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.6 253280 chr17 74068528 74068536 GCCGCCGCC - rs753735272 SRP68 G13_G15del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 253281 chr19 4817288 4817288 - AGGAGG TICAM1 P367_S368insPP 0 0.003 0 0 0 1 0 0 0 0 0 0 253282 chr7 87473088 87473088 G C SLC25A40 Stop gain S241X 0 0.003 0 0 0 1 0 0 0 0 0 0 46 253283 chr7 96810429 96810429 C T rs775135701 SDHAF3 Nonsynonymous SNV R94C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 253284 chr7 99002534 99002534 C A PDAP1 Nonsynonymous SNV S19I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 253285 chr10 127760193 127760193 G A rs944329687 ADAM12 Synonymous SNV C392C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.852 253286 chr19 49621150 49621150 G C rs201977578 LIN7B Synonymous SNV L89L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.235 253287 chr19 49674673 49674673 A G rs151205002 TRPM4 Nonsynonymous SNV T3A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.343 253288 chr19 49686412 49686412 - CTT rs772690187 TRPM4 L210_W211insL 0 0.003 0 0 0 1 0 0 0 0 0 0 253289 chr19 50322522 50322522 T C MED25 Nonsynonymous SNV Y92H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 253290 chr12 51879642 51879642 T A SLC4A8 Synonymous SNV I748I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 253291 chr19 51128520 51128520 G A SYT3 Nonsynonymous SNV R536C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 253292 chr10 17147565 17147565 G A rs763177467 CUBN Nonsynonymous SNV P374L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.2 253293 chr12 52965766 52965766 G A rs367561405 KRT74 Nonsynonymous SNV R237C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 253294 chr19 52937248 52937250 AGG - rs778567551 ZNF534 E21del 0 0.003 0 0 0 1 0 0 0 0 0 0 253295 chr7 104702620 104702620 C T rs529117650 KMT2E Synonymous SNV S27S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.77 253296 chr7 104766323 104766323 T C SRPK2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.34 253297 chr12 56531121 56531121 C T rs748519554 ESYT1 Synonymous SNV P644P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 253298 chr17 76496408 76496408 G A rs781290051 DNAH17 Synonymous SNV C1873C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.32 253299 chr12 9871372 9871372 T A CLECL1 0.003 0 0 2 3 0 0.005 0 0 0 0 0 8.42 253300 chr12 57898060 57898060 A G MARS1 Nonsynonymous SNV H449R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 253301 chr12 57905559 57905559 C T rs143007366 MARS1 Nonsynonymous SNV R483C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 253302 chr10 52384935 52384935 G C rs991162791 SGMS1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.948 253303 chr19 55748337 55748337 C A rs200656242 PPP6R1 Nonsynonymous SNV A585S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 253304 chr17 78450167 78450167 G A NPTX1 Nonsynonymous SNV P27L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.78 253305 chr10 62671268 62671268 G A rs148542953 RHOBTB1 Synonymous SNV N11N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.7 253306 chr9 214548 214548 G C rs754555025 DOCK8-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.457 253307 chr12 6687206 6687206 G A rs34509399 CHD4 Synonymous SNV A1732A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.92 253308 chr12 69264147 69264147 T G CPM Nonsynonymous SNV N155T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 253309 chr10 70404658 70404658 A G TET1 Synonymous SNV G724G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.248 253310 chr10 70406255 70406255 G A TET1 Nonsynonymous SNV V1257I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 253311 chr18 50976926 50976926 A G rs747840375 DCC Nonsynonymous SNV S1096G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.1 253312 chr7 139281521 139281521 C T rs367751989 HIPK2 Nonsynonymous SNV V860I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 253313 chr7 140477872 140477872 T A BRAF Nonsynonymous SNV D479V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 253314 chr19 57326615 57326615 G A rs150653574 PEG3 Synonymous SNV G910G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.171 253315 chr10 73973077 73973077 T G ASCC1 Nonsynonymous SNV I16L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.034 253316 chr11 128994777 128994777 C G ARHGAP32 Nonsynonymous SNV D80H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 253317 chr9 34614134 34614134 G A DCTN3 Nonsynonymous SNV A158V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.12 253318 chr7 149486774 149486774 C T rs372187843 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 253319 chr10 89264880 89264880 G A rs376159805 MINPP1 Nonsynonymous SNV D70N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 253320 chr11 17449906 17449906 C T rs755707550 ABCC8 Nonsynonymous SNV R657Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 14.35 253321 chr10 94828277 94828277 - GCGCAAGCCGTGCTCCAGCTGCTA CYP26C1 A473_V474insQAVLQLLA 0 0 0.003 0 0 0 0 1 0 0 0 0 253322 chr19 6002873 6002873 G A rs778967097 RFX2 Synonymous SNV V478V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 253323 chr12 49690360 49690360 C A LOC101927267 0 0 0 1 0 0 0.003 0 0 0 0 0 8.233 253324 chr16 19746684 19746684 A G IQCK Nonsynonymous SNV K41R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.827 253325 chr18 43458345 43458345 C T rs763614919 EPG5 Nonsynonymous SNV E1980K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.47 253326 chr18 44057695 44057695 G A rs771007568 LOXHD1 Nonsynonymous SNV R427W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 253327 chr8 3855544 3855544 G A rs772576183 CSMD1 Synonymous SNV D233D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.888 253328 chr8 8197028 8197028 G C PRAG1 Nonsynonymous SNV S760R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 253329 chr8 10390425 10390425 A T rs770050467 PRSS55 Nonsynonymous SNV N203I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.684 253330 chr19 12089831 12089831 G A rs374273212 ZNF763 Synonymous SNV A242A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.772 253331 chr13 23907473 23907473 C T rs773384950 SACS Synonymous SNV K3367K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.779 253332 chr12 54852898 54852898 G A rs200520699 GTSF1 Stop gain Q167X 0 0 0 2 0 0 0.005 0 0 0 0 0 39 253333 chr8 12956993 12956993 G T DLC1 Nonsynonymous SNV H440Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.74 253334 chr11 103029470 103029470 A C rs371259464 DYNC2H1 Synonymous SNV R1398R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.64 253335 chr18 72114181 72114181 C T rs3752101 DIPK1C Nonsynonymous SNV R179H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.14 253336 chr13 41767314 41767314 G T rs148326074 KBTBD7 Nonsynonymous SNV D360E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 253337 chr11 112070431 112070431 A G rs146824071 BCO2 Nonsynonymous SNV Y176C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 25.5 253338 chr18 72997865 72997865 C T rs112669427 TSHZ1 Nonsynonymous SNV T168I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 6.545 253339 chr12 57881977 57881977 C G rs769545323 MARS1 Nonsynonymous SNV P35R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.12 253340 chr18 72998901 72998901 G T rs111329836 TSHZ1 Synonymous SNV A513A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.214 253341 chr18 72999563 72999563 T C rs113033195 TSHZ1 Nonsynonymous SNV M734T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 253342 chr11 113270749 113270749 C T rs77077463 ANKK1 Synonymous SNV H686H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 5.521 253343 chr13 46658419 46658419 A C CPB2 Nonsynonymous SNV F70L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 253344 chr12 68052285 68052285 C G DYRK2 Nonsynonymous SNV P460R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.1 253345 chr19 10265146 10265146 C T rs756623224 DNMT1 Synonymous SNV Q598Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.654 253346 chr1 110883550 110883550 C T rs772514162 RBM15 Nonsynonymous SNV T508I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 253347 chr16 57760852 57760852 G A DRC7 Nonsynonymous SNV E630K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 253348 chr11 1248001 1248001 G A rs199733278 MUC5B Nonsynonymous SNV R119H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.5 253349 chr16 602647 602647 C T rs200960455 CAPN15 Nonsynonymous SNV P927L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 12.5 253350 chr16 67918812 67918812 G T rs147414083 NRN1L Nonsynonymous SNV M2I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 253351 chr11 134073042 134073042 G A rs779201904 NCAPD3 Nonsynonymous SNV S507L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 253352 chr16 69364294 69364294 G A PDF Synonymous SNV P60P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.538 253353 chr1 13910397 13910397 G C rs779243954 PDPN Nonsynonymous SNV A33P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 253354 chr11 15262051 15262051 C T rs770959363 INSC Synonymous SNV A442A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.86 253355 chr19 23040654 23040654 G T rs796134426 ZNF723 Nonsynonymous SNV A321S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.81 253356 chr19 23040666 23040666 C T rs796676925 ZNF723 Nonsynonymous SNV P325S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.267 253357 chr1 147091960 147091960 C G rs150844383 BCL9 Nonsynonymous SNV R667G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 253358 chr19 15648714 15648714 C T rs151269464 CYP4F22 Nonsynonymous SNV A194V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.23 253359 chr12 113624792 113624792 G T RITA1 Stop gain E105X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 253360 chr11 1858500 1858500 G A SYT8 Nonsynonymous SNV A350T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.253 253361 chr16 72991697 72991726 GCCGCCGCCGCCGCAGCCACCGCCGCCGCC - rs761819493 ZFHX3 A775_A784del 0.001 0 0 0 1 0 0 0 0 0 0 0 253362 chr1 151259550 151259552 CTT - rs587752303 ZNF687 F263del 0 0.003 0 0 0 1 0 0 0 0 0 0 253363 chr1 152083745 152083745 C T rs188935941 TCHH Nonsynonymous SNV E650K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.76 253364 chr14 23389969 23389969 C G rs150569147 PRMT5-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 14.5 253365 chr1 153904763 153904763 A G rs374970748 DENND4B Synonymous SNV L1316L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.655 253366 chr1 15438841 15438841 - TG TMEM51-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 253367 chr19 17622704 17622704 C T rs1000048095 PGLS Synonymous SNV L75L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.68 253368 chr11 292624 292624 - ACGTCA PGGHG N371_G372insVN 0 0 0.003 0 0 0 0 1 0 0 0 0 253369 chr14 24569476 24569476 G A rs199562600 PCK2 Nonsynonymous SNV V430M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.846 253370 chr14 24617068 24617068 C T rs200593880 RNF31 Nonsynonymous SNV A54V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 253371 chr14 24657936 24657936 G A rs114902352 IPO4 Nonsynonymous SNV R20C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.4 253372 chr14 24707845 24707845 A G rs201431034 GMPR2 Nonsynonymous SNV H382R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 253373 chr11 57080690 57080690 C T rs149611162 TNKS1BP1 Nonsynonymous SNV R491Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 253374 chr8 133141877 133141877 A C rs997731026 KCNQ3 Nonsynonymous SNV L631V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.118 253375 chr11 34118788 34118788 G A CAPRIN1 Nonsynonymous SNV S649N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 253376 chr1 156641772 156641772 T C rs751807544 NES Synonymous SNV L736L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.4 253377 chr19 21240243 21240243 G - ZNF430 E376Nfs*17 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 253378 chr14 45711535 45711535 T G rs142747434 MIS18BP1 Nonsynonymous SNV N282T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 253379 chr11 45925650 45925650 C A MAPK8IP1 Nonsynonymous SNV A535D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 253380 chr10 13230942 13230942 G A rs368963738 MCM10 Nonsynonymous SNV R426H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 253381 chr19 23406559 23406559 T C ZNF724 Nonsynonymous SNV H163R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.3 253382 chr1 158621225 158621225 T C rs536551499 SPTA1 Nonsynonymous SNV I1137V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.14 253383 chr8 144620463 144620463 C A ZC3H3 Nonsynonymous SNV E358D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.087 253384 chr1 159799838 159799838 C T rs41317531 SLAMF8 Nonsynonymous SNV R75C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 253385 chr1 160125871 160125871 G A rs61734683 ATP1A4 Nonsynonymous SNV V150I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.681 253386 chr8 144918035 144918035 G C NRBP2 Synonymous SNV A464A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 253387 chr16 89576947 89576947 T A rs121918358 SPG7 Stop gain L78X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24 253388 chr19 35435158 35435158 T G ZNF30 Nonsynonymous SNV C431G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 253389 chr1 16268620 16268620 G A rs747852246 ZBTB17 Synonymous SNV D670D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.402 253390 chr1 167095307 167095307 G A rs147141593 DUSP27 Synonymous SNV T313T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 253391 chr9 1055720 1055720 A G DMRT2 0 0.003 0 0 0 1 0 0 0 0 0 0 14.89 253392 chr1 169762469 169762469 C G rs749154222 METTL18 Nonsynonymous SNV G123A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.23 253393 chr14 73137892 73137892 G T rs370171301 DPF3 Synonymous SNV R397R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.088 253394 chr14 74759066 74759066 G A rs147795328 ABCD4 Nonsynonymous SNV R85W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.7 253395 chr1 17323540 17323540 G A rs201661480 ATP13A2 Synonymous SNV H385H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 253396 chr10 47087284 47087284 C T NPY4R, NPY4R2 Synonymous SNV A167A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 253397 chr1 176668533 176668533 G A rs199610092 PAPPA2 Nonsynonymous SNV G1015E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.247 253398 chr9 35236569 35236569 C T rs372260676 UNC13B Nonsynonymous SNV R86C 0 0.005 0 0 0 2 0 0 0 0 0 0 35 253399 chr1 179783287 179783287 C G rs11589593 FAM163A Nonsynonymous SNV A156G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.06 253400 chr11 55861234 55861234 A G rs147380855 OR8I2 Nonsynonymous SNV I151V 0 0 0.01 0 0 0 0 3 0 0 0 0 0.002 253401 chr14 90769092 90769092 C T rs768334718 NRDE2 Synonymous SNV A461A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.03 253402 chr14 93171026 93171026 G A rs377216432 LGMN Synonymous SNV Y349Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 253403 chr19 41173692 41173692 C T rs202221260 NUMBL Nonsynonymous SNV R463Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 253404 chr14 94405827 94405827 A C rs973066712 ASB2 Nonsynonymous SNV L367R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 253405 chr1 186092095 186092095 T C rs373896888 HMCN1 Nonsynonymous SNV I4081T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 253406 chr11 56309888 56309888 C T rs753389113 OR5M11 Synonymous SNV P282P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.196 253407 chr1 1920373 1920373 C T CFAP74 Nonsynonymous SNV C36Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.077 253408 chr1 19683225 19683225 G A rs373170769 CAPZB Synonymous SNV T164T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.02 253409 chr1 197887121 197887121 C G rs755035631 LHX9 Synonymous SNV R56R 0 0.005 0.003 0 0 2 0 1 0 0 0 0 16.77 253410 chr1 201177401 201177401 T C rs150982923 IGFN1 Nonsynonymous SNV F1127S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.2 253411 chr15 32976840 32976840 G A rs35500536 ARHGAP11A-SCG5, SCG5 Synonymous SNV P153P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 253412 chr19 50385284 50385309 CTCCCGCCTCCCAGCTCCCCGCAGGA - rs754639910 TBC1D17 P145_S148del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 253413 chr1 202858149 202858149 G A rs780851327 RABIF Synonymous SNV C26C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.04 253414 chr15 38643283 38643283 A G rs1042940854 SPRED1 Synonymous SNV R251R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.196 253415 chr1 204226680 204226680 C T rs760840127 PLEKHA6 Nonsynonymous SNV S442N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.128 253416 chr11 62290660 62290660 G T rs770341794 AHNAK Synonymous SNV P3743P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.996 253417 chr11 62996841 62996841 T C rs773392931 SLC22A25 Nonsynonymous SNV Q95R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 253418 chr10 121658133 121658133 C T rs767919384 SEC23IP Nonsynonymous SNV L120F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.057 253419 chr11 6458311 6458311 G A rs180923845 HPX Nonsynonymous SNV T267M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 253420 chr11 64900986 64900986 G A SYVN1 Synonymous SNV F29F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 253421 chr11 64955435 64955435 C T rs1033093801 CAPN1 Stop gain R285X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 37 253422 chr11 6519843 6519843 C G DNHD1 Nonsynonymous SNV A133G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 253423 chr1 21938005 21938005 G T RAP1GAP Nonsynonymous SNV N325K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 253424 chr17 4442989 4442989 G T rs138002559 MYBBP1A Synonymous SNV G1236G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.041 253425 chr1 22161395 22161395 G T HSPG2 Synonymous SNV T3500T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.791 253426 chr9 129973000 129973000 G T rs987647357 RALGPS1 Nonsynonymous SNV G355V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 253427 chr11 67186617 67186617 G A rs538261452 CARNS1 Nonsynonymous SNV R129Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 253428 chr1 223285601 223285601 A T rs138703616 TLR5 Stop gain L258X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 253429 chr17 46189406 46189406 A G rs761535823 SNX11 Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.1 253430 chr1 223568231 223568231 C G rs754754030 CCDC185 Nonsynonymous SNV R472G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 253431 chr1 224377560 224377560 A G rs377362966 DEGS1 Nonsynonymous SNV I122V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 253432 chr11 67397302 67397302 C G NUDT8 Synonymous SNV A27A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 253433 chr12 109841846 109841846 C T rs187604613 MYO1H Synonymous SNV N254N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.86 253434 chr1 226825439 226825439 C T rs761753956 ITPKB Nonsynonymous SNV D856N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 253435 chr9 132401752 132401752 C T rs138385332 ASB6 Nonsynonymous SNV V111I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 253436 chr17 48776822 48776822 G A rs761795945 ANKRD40 Nonsynonymous SNV A239V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 253437 chr15 68624373 68624373 T C ITGA11 Nonsynonymous SNV K532E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 253438 chr1 2316467 2316467 G A rs146043178 MORN1 Nonsynonymous SNV R163W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 253439 chr12 122691851 122691851 C G B3GNT4 Synonymous SNV L326L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.668 253440 chr15 78310240 78310240 G C rs142585404 TBC1D2B Synonymous SNV L510L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 253441 chr17 65191571 65191571 C T HELZ Nonsynonymous SNV A149T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 253442 chr17 6941625 6941625 C T rs76070643 SLC16A13 Synonymous SNV Y166Y 0.003 0 0.007 1 4 0 0.003 2 1 0 1 0 7.92 253443 chr17 6945087 6945087 G T rs75493593 SLC16A11 Nonsynonymous SNV P419T 0.003 0 0.01 1 3 0 0.003 3 1 0 1 0 22.6 253444 chr17 6945483 6945483 C T rs75418188 SLC16A11 Nonsynonymous SNV G316S 0.003 0 0.01 1 3 0 0.003 3 1 0 1 0 11.2 253445 chr17 6946330 6946330 C T rs117767867 SLC16A11 Nonsynonymous SNV V89I 0.003 0 0.01 1 3 0 0.003 3 1 0 1 0 14.39 253446 chr12 104089554 104089554 T C rs149382223 STAB2 Nonsynonymous SNV Y1172H 0.005 0.003 0.007 1 6 1 0.003 2 1 0 0 0 25.2 253447 chr19 55952125 55952125 C T rs951796727 SHISA7 Nonsynonymous SNV V227M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 253448 chr19 7999094 7999094 G A rs143021819 TIMM44 Synonymous SNV L141L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.191 253449 chr12 109843805 109843805 A G MYO1H Nonsynonymous SNV I294V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.668 253450 chr12 30864540 30864540 C T rs200212827 CAPRIN2 Synonymous SNV K869K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.14 253451 chr1 27238427 27238427 G A rs746783997 NR0B2 Nonsynonymous SNV P228L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 253452 chr1 27428938 27428938 G A rs373894487 SLC9A1 Synonymous SNV I586I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.46 253453 chr14 105848370 105848370 G A PACS2 Nonsynonymous SNV R463Q 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 253454 chr17 76093873 76093873 G T rs369221517 TNRC6C Nonsynonymous SNV A1449S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 253455 chr12 116429247 116429247 T C rs147863200 MED13L Nonsynonymous SNV K1171R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.574 253456 chr16 1250550 1250550 C T rs370077125 CACNA1H Synonymous SNV Y366Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.67 253457 chr16 129448 129448 A C rs3176383 MPG Nonsynonymous SNV K17Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.851 253458 chr12 122261344 122261344 C T rs767789389 SETD1B Nonsynonymous SNV P1620L 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 16.82 253459 chr1 34011653 34011653 C T rs546922768 CSMD2 Synonymous SNV S2884S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.04 253460 chr12 1225060 1225060 G A ERC1 Nonsynonymous SNV R477K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 253461 chr12 122803872 122803872 G T CLIP1 Synonymous SNV A1045A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 253462 chr1 35250423 35250423 C T rs778017222 GJB3 Synonymous SNV F20F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.312 253463 chr12 49391854 49391854 T G rs150358945 DDN Nonsynonymous SNV T269P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.602 253464 chr17 7906961 7906961 G T GUCY2D Nonsynonymous SNV R199L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.226 253465 chr1 40947460 40947460 C T rs763416046 ZFP69 Synonymous SNV D51D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 253466 chr17 79220848 79220848 C T rs375999646 SLC38A10 Synonymous SNV A693A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 253467 chr10 61819565 61819565 A G rs151278674 ANK3 Synonymous SNV T786T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.1 253468 chr12 132631835 132631835 C T rs762927952 NOC4L Nonsynonymous SNV L119F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 253469 chr19 8212302 8212302 C T rs559203924 FBN3 Synonymous SNV S21S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.81 253470 chr17 8045239 8045239 G A rs148264825 PER1 Nonsynonymous SNV R1162W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 253471 chr12 1702951 1702951 G A rs367626654 FBXL14 Synonymous SNV S94S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.631 253472 chr17 8644983 8644983 C T rs374455661 CCDC42 Nonsynonymous SNV D101N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 253473 chr12 27067420 27067420 C T rs376533817 INTS13 Nonsynonymous SNV R447Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 253474 chr12 2719827 2719827 G A rs373124557 CACNA1C Nonsynonymous SNV V1227I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.62 253475 chr10 78711900 78711900 C T rs370942695 KCNMA1 Synonymous SNV P776P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 253476 chr15 62456649 62456649 C T rs760521041 C2CD4B Nonsynonymous SNV V179I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 253477 chr10 88213577 88213577 T A WAPL Nonsynonymous SNV H884L 0 0.003 0 0 0 1 0 0 0 0 0 0 19 253478 chr10 88260078 88260078 C A rs761071575 WAPL Nonsynonymous SNV A308S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.204 253479 chr12 44605150 44605150 T C rs150021305 TMEM117 Synonymous SNV N92N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.832 253480 chr10 88466442 88466442 A G rs138251566 LDB3 Nonsynonymous SNV T351A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.607 253481 chr1 1179385 1179385 A G rs199525665 C1QTNF12 Synonymous SNV G160G 0.004 0.005 0.01 1 5 2 0.003 3 0 0 0 0 1.075 253482 chr1 57481076 57481076 C T rs12404008 DAB1 Synonymous SNV P308P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.67 253483 chr1 60505751 60505751 T - rs749773634 C1orf87 E196Kfs*7 0 0.003 0.003 0 0 1 0 1 0 0 0 0 253484 chr18 33263461 33263461 A C rs759071841 GALNT1 Synonymous SNV G196G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.092 253485 chr1 65145386 65145386 G A rs201659047 CACHD1 Nonsynonymous SNV R822H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 253486 chr12 49725039 49725039 G A rs376189271 TROAP Nonsynonymous SNV R714H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 253487 chr10 97174520 97174520 T C rs772232335 SORBS1 Nonsynonymous SNV T172A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 253488 chr10 97440290 97440290 A G rs576518466 TCTN3 Nonsynonymous SNV L362P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.56 253489 chr10 97697822 97697822 G C rs753655014 CC2D2B Nonsynonymous SNV E137D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 253490 chr16 5046920 5046920 G A rs955243183 SEC14L5 Nonsynonymous SNV R282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 253491 chr1 149871994 149871994 G C rs141984364 BOLA1 Nonsynonymous SNV G128R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 253492 chr1 151278744 151278744 C T rs200464358 PI4KB Synonymous SNV T94T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.89 253493 chr1 8420933 8420933 G A RERE Synonymous SNV A324A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.25 253494 chr10 104210526 104210526 A G rs529866421 C10orf95 Nonsynonymous SNV W109R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.493 253495 chr10 105194713 105194713 G A rs770426601 PDCD11 Nonsynonymous SNV V1276I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.612 253496 chr1 153520921 153520921 C A S100A3 Nonsynonymous SNV C14F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.68 253497 chr10 112258119 112258119 C T rs545263710 DUSP5 Synonymous SNV G80G 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.69 253498 chr1 874817 874865 CCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT - rs745625383 SAMD11 P228_D236delinsH 0 0.003 0 0 0 1 0 0 0 0 0 0 253499 chr1 154562752 154562752 T C rs780266671 ADAR Nonsynonymous SNV M507V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.417 253500 chr1 154897734 154897734 G A rs1047996967 PMVK Synonymous SNV D136D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.352 253501 chr1 156106966 156106966 G A rs41314035 LMNA Synonymous SNV Q405Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.37 253502 chr16 734135 734135 G A rs377625139 JMJD8 Nonsynonymous SNV A36V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.816 253503 chr16 77918673 77918673 G T rs552928561 VAT1L Nonsynonymous SNV V351L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 253504 chr13 100623677 100623677 C T rs944206004 ZIC5 Nonsynonymous SNV G85S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 253505 chr18 77623891 77623891 C G KCNG2 Nonsynonymous SNV P75R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 253506 chr20 10393439 10393439 C A rs74315394 MKKS Nonsynonymous SNV A242S 0 0.008 0.003 0 0 3 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 253507 chr20 10625543 10625543 T C rs149949294 JAG1 Nonsynonymous SNV K771R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.22 253508 chr13 110438086 110438086 G A rs755478723 IRS2 Synonymous SNV A105A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 253509 chr12 69153010 69153010 C T SLC35E3 Nonsynonymous SNV S212L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 253510 chr13 114107558 114107558 G A rs369993693 ADPRHL1 Synonymous SNV T65T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.49 253511 chr16 614780 614780 G C PRR35 Nonsynonymous SNV V397L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.166 253512 chr12 80752071 80752071 G A rs149191545 OTOGL Synonymous SNV G2012G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.637 253513 chr16 839256 839256 C T rs921536353 CHTF18 Synonymous SNV N111N 0 0 0 2 0 0 0.005 0 0 0 0 0 6.82 253514 chr16 921178 921178 C T rs138461953 LMF1 Nonsynonymous SNV R245Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.011 253515 chr10 134736171 134736171 G A rs576929176 CFAP46 Nonsynonymous SNV A433V 0.002 0.008 0 0 2 3 0 0 0 0 0 0 24.4 253516 chr16 1035011 1035011 G A rs754519733 SOX8 Synonymous SNV P322P 0 0 0 2 0 0 0.005 0 0 0 0 0 1.268 253517 chr10 134999563 134999563 G A rs779601360 KNDC1 Synonymous SNV P237P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 3.922 253518 chr1 167096346 167096346 T C rs767017134 DUSP27 Nonsynonymous SNV S660P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 253519 chr16 1866964 1866964 T A HAGH Nonsynonymous SNV T190S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 253520 chr11 607789 607789 G A rs746033686 PHRF1 Nonsynonymous SNV R778Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 253521 chr11 709574 709574 C T rs760648744 EPS8L2 Synonymous SNV D22D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 253522 chr11 799547 799547 C A PIDD1 Nonsynonymous SNV Q831H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.8 253523 chr16 89715801 89715801 G A rs114931496 CHMP1A Nonsynonymous SNV R64C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.41 253524 chr16 89846310 89846310 G A rs148154682 FANCA Nonsynonymous SNV T561M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 253525 chr17 11459124 11459124 G A rs377388134 SHISA6 Synonymous SNV S289S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 253526 chr1 159779939 159779939 G A rs141393415 FCRL6 Synonymous SNV A314A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.136 253527 chr13 23471532 23471532 G A rs183699884 BASP1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.689 253528 chr13 53602999 53602999 G T rs147407792 OLFM4 Nonsynonymous SNV A10S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.046 253529 chr17 17119708 17119708 - G rs80338682 FLCN Frameshift insertion H429Pfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 253530 chr17 17720756 17720756 G A rs545736442 SREBF1 Nonsynonymous SNV R450W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 253531 chr20 44681754 44681754 C T SLC12A5 Nonsynonymous SNV R869W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 253532 chr13 38320312 38320312 G C rs373974341 TRPC4 Nonsynonymous SNV A220G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 28.1 253533 chr11 1651072 1651072 T C rs778175541 KRTAP5-5 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 6.707 253534 chr19 19356141 19356141 A T NCAN Nonsynonymous SNV E1171V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 253535 chr11 4411270 4411270 C T rs370217154 TRIM21 Nonsynonymous SNV A124T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 253536 chr19 22605025 22605025 A G ZNF98 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 7.695 253537 chr17 2601345 2601345 G T CLUH Synonymous SNV L602L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.076 253538 chr20 60701442 60701442 C A LSM14B Nonsynonymous SNV P125Q 0 0.005 0 0 0 2 0 0 0 0 0 0 12.82 253539 chr13 99100535 99100535 C G rs375647782 FARP1 Synonymous SNV P1034P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.732 253540 chr17 27959480 27959480 T C rs138401180 SSH2 Nonsynonymous SNV H884R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 253541 chr11 58377381 58377381 G A rs371090648 ZFP91 Nonsynonymous SNV R150Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 253542 chr14 103438476 103438476 C T rs36001612 CDC42BPB Nonsynonymous SNV R555Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 253543 chr20 62187416 62187416 G A rs143315774 FNDC11 Nonsynonymous SNV D134N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 253544 chr14 104624226 104624226 G A rs367939960 KIF26A Synonymous SNV P290P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.925 253545 chr11 4936775 4936775 T C rs143041657 OR51G2 Nonsynonymous SNV Y40C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 253546 chr14 104645972 104645972 G A rs756446886 KIF26A Nonsynonymous SNV E1832K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 253547 chr19 34859505 34859505 C T rs373589993 GPI Synonymous SNV H100H 0.003 0 0 0 3 0 0 0 0 0 0 0 12.49 253548 chr20 62328438 62328438 C T rs750241656 TNFRSF6B Synonymous SNV H106H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 253549 chr20 62370033 62370038 AGGGAG - LIME1 Q223_A225delinsP 0 0.003 0 0 0 1 0 0 0 0 0 0 253550 chr20 62370039 62370039 - TG LIME1 Frameshift insertion I226Gfs*59 0 0.003 0 0 0 1 0 0 0 0 0 0 253551 chr14 105995540 105995540 C A rs781915698 TMEM121 Synonymous SNV G123G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 253552 chr21 15481298 15481298 G A rs746275466 LIPI Synonymous SNV I370I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.276 253553 chr14 23239466 23239466 T C OXA1L Synonymous SNV P216P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.233 253554 chr1 196250083 196250083 A C rs940113578 KCNT2 Synonymous SNV T865T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.43 253555 chr14 20925552 20925552 G A APEX1 Nonsynonymous SNV R281H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 253556 chr14 23946759 23946759 G A NGDN Synonymous SNV R306R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.982 253557 chr14 21993316 21993316 G A rs568894155 SALL2 Synonymous SNV I180I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.483 253558 chr21 34915430 34915430 C T SON Nonsynonymous SNV S11F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 253559 chr17 38975259 38975259 C T rs746687989 KRT10 Nonsynonymous SNV G510S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 253560 chr21 40177902 40177902 C T rs574996013 ETS2 Nonsynonymous SNV A93V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.14 253561 chr21 43411472 43411472 G A rs549472770 ZBTB21 Synonymous SNV C911C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.002 253562 chr1 205549794 205549794 C T rs771008193 MFSD4A Synonymous SNV L145L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 253563 chr19 39360761 39360761 C T rs560514643 RINL Synonymous SNV G388G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 253564 chr14 50192481 50192481 A G KLHDC1 Synonymous SNV E187E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.068 253565 chr14 51243736 51243736 A T rs774146320 NIN Nonsynonymous SNV D199E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 253566 chr1 23286441 23286441 A T rs201481630 LACTBL1 Nonsynonymous SNV M137K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 21 253567 chr11 19209751 19209751 G A rs45476991 CSRP3 Synonymous SNV I71I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 12.96 253568 chr14 55609418 55609418 G A rs10148371 LGALS3 Nonsynonymous SNV R183K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.002 253569 chr22 17590140 17590140 G T IL17RA Synonymous SNV L643L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.817 253570 chr22 18371801 18371801 G A rs376323387 MICAL3 Synonymous SNV S630S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 253571 chr22 19789727 19789727 A G GNB1L Nonsynonymous SNV S177P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.03 253572 chr17 4536753 4536753 G A rs144038526 ALOX15 Nonsynonymous SNV R402W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 253573 chr11 33565740 33565740 A G KIAA1549L Synonymous SNV S877S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.353 253574 chr14 64066230 64066230 A C rs182117567 WDR89 Nonsynonymous SNV V144G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 253575 chr1 222800921 222800921 C T rs193055682 MIA3 Nonsynonymous SNV T120M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 253576 chr14 64692055 64692055 G A rs749088435 SYNE2 Synonymous SNV R367R 0 0 0.007 0 0 0 0 2 0 0 0 0 8.248 253577 chr14 70442489 70442489 A G rs747353237 SMOC1 Nonsynonymous SNV I146V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.88 253578 chr14 71572031 71572031 A G PCNX1 Nonsynonymous SNV T1948A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.078 253579 chr11 46748334 46748334 C T F2 Synonymous SNV Y359Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.925 253580 chr22 24108418 24108418 G A rs527737360 CHCHD10 Synonymous SNV C109C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 253581 chr19 45377223 45377223 - GTG NECTIN2 R276_T277insG 0.001 0 0 0 1 0 0 0 0 0 0 0 253582 chr14 81610636 81610636 C G rs371176958 TSHR Nonsynonymous SNV S745C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 253583 chr14 77901686 77901686 C T VIPAS39 Synonymous SNV K272K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.09 253584 chr22 30494847 30494847 G C rs34305723 HORMAD2 Nonsynonymous SNV V20L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.345 253585 chr22 30766466 30766466 C T rs12167903 CCDC157 Nonsynonymous SNV P191L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 253586 chr14 91338471 91338471 C G rs755066054 RPS6KA5 Nonsynonymous SNV A567P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.302 253587 chr19 47285695 47285695 G A rs148681286 SLC1A5 Nonsynonymous SNV R55C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23 253588 chr19 47885261 47885261 C A rs934662532 DHX34 Nonsynonymous SNV T1108N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.187 253589 chr19 48032241 48032241 G A rs375905291 ZNF541 Nonsynonymous SNV A1179V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.3 253590 chr14 94929474 94929474 C T rs371198029 SERPINA9 Nonsynonymous SNV G324S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.797 253591 chr11 6472198 6472198 G A TRIM3 Synonymous SNV C479C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.59 253592 chr1 27436218 27436218 G A rs760094376 SLC9A1 Synonymous SNV I288I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 16.1 253593 chr22 39907390 39907390 C G MIEF1 Nonsynonymous SNV L31V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 253594 chr19 50155550 50155550 G A SCAF1 Nonsynonymous SNV R635Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 253595 chr15 31253222 31253224 CCT - rs760755740 MTMR10 G207del 0 0 0.007 0 0 0 0 2 0 0 0 0 253596 chr19 50827208 50827208 C T rs145167102 KCNC3 Synonymous SNV P258P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 253597 chr15 34355656 34355656 T C rs147186645 CHRM5 Synonymous SNV H246H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 253598 chr22 43032811 43032811 A T rs370253340 CYB5R3 Nonsynonymous SNV S21R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.45 253599 chr17 68129009 68129009 A T rs369512478 KCNJ16 Nonsynonymous SNV S296C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 253600 chr11 66108296 66108296 C T rs116853990 BRMS1 Nonsynonymous SNV E162K 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 34 253601 chr17 8020126 8020126 C A ALOXE3 Nonsynonymous SNV G107V 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 253602 chr22 44079630 44079630 G A rs764273798 EFCAB6 Synonymous SNV N264N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.488 253603 chr15 40589742 40589742 C T rs186064001 PLCB2 Nonsynonymous SNV E435K 0 0 0.007 0 0 0 0 2 0 0 0 0 34 253604 chr22 44594535 44594535 G A rs147105787 PARVG Nonsynonymous SNV G249E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 253605 chr11 68562334 68562334 C T rs144347513 CPT1A Nonsynonymous SNV G273S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 253606 chr17 10432262 10432262 A G rs780067831 MYH2 Synonymous SNV T1163T 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 0.082 253607 chr15 42434336 42434336 G C rs75560163 PLA2G4F Nonsynonymous SNV P799R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 253608 chr11 129758601 129758601 G A NFRKB Synonymous SNV P88P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.261 253609 chr17 73503174 73503174 C T rs770230886 CASKIN2 Nonsynonymous SNV R12Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 253610 chr15 43817370 43817370 G A rs759843444 MAP1A Synonymous SNV G1233G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.528 253611 chr17 73751927 73751927 C T rs745944120 ITGB4 Synonymous SNV N1551N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.747 253612 chr17 73760135 73760135 G C GALK1 Nonsynonymous SNV S66R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.515 253613 chr15 45392351 45392351 C T rs78876145 DUOX2 Synonymous SNV K1027K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.61 253614 chr15 45406854 45406854 C T rs4775766 DUOXA2 Synonymous SNV A17A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.86 253615 chr22 50671836 50671836 G A rs780722148 TUBGCP6 Nonsynonymous SNV P342L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 253616 chr15 45697576 45697576 C T rs148305487 SPATA5L1 Nonsynonymous SNV S383L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 253617 chr15 49284445 49284445 G A SECISBP2L Nonsynonymous SNV T1056M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 253618 chr17 76046587 76046587 G A rs199605179 TNRC6C Nonsynonymous SNV A482T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.55 253619 chr17 76047075 76047075 C T TNRC6C Synonymous SNV S644S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.202 253620 chr17 7701507 7701507 C T rs143616651 DNAH2 Nonsynonymous SNV R2755W 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 35 253621 chr2 101874362 101874362 C T rs762697427 CNOT11 Synonymous SNV D208D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.24 253622 chr11 62290233 62290233 T C AHNAK Nonsynonymous SNV K3886E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 253623 chr11 62433365 62433365 G A rs181220820 CSKMT Nonsynonymous SNV R5H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.39 253624 chr17 26951299 26951299 C T rs141838641 KIAA0100 Synonymous SNV T1425T 0 0 0 3 0 0 0.008 0 0 0 0 0 17.88 253625 chr11 64022279 64022279 C T rs374911036 PLCB3 Synonymous SNV R79R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.528 253626 chr1 6157342 6157342 G A rs1054687881 KCNAB2 Synonymous SNV R246R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.614 253627 chr11 64419579 64419579 C T rs750334370 NRXN2 Nonsynonymous SNV E782K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 253628 chr11 9853905 9853905 C T rs757577170 SBF2 Nonsynonymous SNV R1173H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.2 253629 chr17 8384689 8384689 G C rs372388211 MYH10 Nonsynonymous SNV Q1708E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 253630 chr11 66033954 66033954 C T rs534092442 KLC2 Nonsynonymous SNV P516L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 253631 chr19 56720471 56720471 G A rs535872828 ZSCAN5C Nonsynonymous SNV E465K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 253632 chr11 66625452 66625452 G C LRFN4 Synonymous SNV L79L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 253633 chr11 66626529 66626529 G C rs771967835 LRFN4 Nonsynonymous SNV Q438H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 253634 chr15 75968823 75968823 C A CSPG4 Nonsynonymous SNV A2013S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.96 253635 chr11 68029866 68029866 G A rs762847318 C11orf24 Synonymous SNV S199S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.026 253636 chr2 136581538 136581538 G A rs150722551 LCT Synonymous SNV N280N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 1.57 253637 chr18 34846521 34846521 G A rs751698326 CELF4 Synonymous SNV Y379Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 253638 chr2 163075659 163075659 T C FAP Nonsynonymous SNV Q149R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.61 253639 chr1 55352712 55352712 G A rs140995590 DHCR24 Synonymous SNV L27L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 18.32 253640 chr15 91769578 91769578 G T SV2B Stop gain E29X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 253641 chr15 93339498 93339498 C A rs193220385 ASB9P1 0 0 0.007 0 0 0 0 2 0 0 0 0 8.992 253642 chr1 949831 949831 C T rs116002608 ISG15 Synonymous SNV G157G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.43 253643 chr1 976554 976554 C G rs191270495 AGRN Synonymous SNV G243G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.552 253644 chr17 45234430 45234430 A G rs78072949 CDC27 Nonsynonymous SNV S128P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.8 253645 chr2 177053883 177053883 G T rs780236960 HOXD1 Synonymous SNV P118P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 253646 chr11 111624293 111624293 T C rs782161494 PPP2R1B Synonymous SNV V219V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.601 253647 chr2 179475800 179475800 C T rs765642042 TTN Nonsynonymous SNV R7954H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.79 253648 chr2 179497017 179497017 C T rs764250397 TTN Nonsynonymous SNV R5470H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 253649 chr11 118773186 118773186 G A rs201662152 BCL9L Synonymous SNV L422L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.052 253650 chr11 120350775 120350775 G A rs373504530 ARHGEF12 Synonymous SNV P1272P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.243 253651 chr16 29675658 29675658 C T SPN Synonymous SNV P203P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 253652 chr1 109482276 109482276 A C CLCC1 Nonsynonymous SNV I156M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 253653 chr2 201342484 201342484 C G rs200186594 SPATS2L Nonsynonymous SNV H400Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.46 253654 chr2 201724863 201724863 C T rs149206610 CLK1 Nonsynonymous SNV V198I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.3 253655 chr1 110766187 110766187 T A KCNC4 Nonsynonymous SNV F427Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27 253656 chr11 125887185 125887185 C T rs142667570 CDON Synonymous SNV E242E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.57 253657 chr2 20403855 20403855 C T rs112048177 SDC1 Nonsynonymous SNV A116T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.574 253658 chr16 3025795 3025795 C T rs762539396 PKMYT1 Nonsynonymous SNV G64S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 253659 chr12 43828163 43828163 T C ADAMTS20 Nonsynonymous SNV R869G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 253660 chr16 3050337 3050337 G A rs1028058476 LOC101929613 0 0 0 1 0 0 0.003 0 0 0 0 0 8.475 253661 chr19 14063403 14063403 C T DCAF15 Nonsynonymous SNV R27W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 253662 chr16 30999484 30999484 G A rs141997902 HSD3B7 Nonsynonymous SNV A364T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.003 253663 chr16 4924316 4924316 G C UBN1 Synonymous SNV G635G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.391 253664 chr12 4777640 4777640 C G rs765224137 NDUFA9 Nonsynonymous SNV P225A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.542 253665 chr2 210786400 210786400 G A rs201023763 UNC80 Synonymous SNV P1774P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.59 253666 chr2 211085515 211085515 G C rs779578807 ACADL Nonsynonymous SNV S30C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 253667 chr16 3117516 3117516 G A rs201114894 IL32 Nonsynonymous SNV D52N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.886 253668 chr16 53190096 53190096 C A CHD9 Nonsynonymous SNV P32H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 253669 chr1 117655075 117655075 C T rs997994789 TRIM45 Nonsynonymous SNV G514D 0.001 0 0 0 1 0 0 0 0 0 0 0 34 253670 chr12 3048591 3048591 G C rs140769882 TULP3, TULP3 Nonsynonymous SNV S437T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 253671 chr2 215876318 215876318 G T rs771847743 ABCA12 Nonsynonymous SNV S408Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26 253672 chr12 110236509 110236509 G A rs115446386 TRPV4 Synonymous SNV A307A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.95 253673 chr16 47294459 47294459 T C rs142829818 ITFG1 Synonymous SNV E293E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.381 253674 chr16 4749112 4749112 G A rs377633164 ANKS3 Synonymous SNV D277D 0 0 0 3 0 0 0.008 0 0 0 0 0 13.55 253675 chr17 79220055 79220055 G A rs201790127 SLC38A10 Synonymous SNV G887G 0 0 0 2 0 0 0.005 0 0 0 0 0 6.622 253676 chr12 52307028 52307028 C T rs56080682 ACVRL1 Synonymous SNV C69C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.2 253677 chr16 67859897 67859897 G A rs140856228 TSNAXIP1 Synonymous SNV L8L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.207 253678 chr16 68013615 68013615 T A DPEP3 Nonsynonymous SNV D114V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 253679 chr16 683953 683953 G C WFIKKN1 Nonsynonymous SNV D515H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.756 253680 chr2 220136289 220136289 G T rs190401200 TUBA4B Synonymous SNV L198L 0 0.005 0 0 0 2 0 0 0 0 0 0 2.116 253681 chr20 34065720 34065720 T C CEP250 Nonsynonymous SNV C630R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.62 253682 chr16 69725829 69725829 A G NFAT5 Nonsynonymous SNV I476V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 253683 chr16 71510107 71510107 T C ZNF19 Nonsynonymous SNV M115V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 253684 chr20 3678605 3678605 G A rs144803831 SIGLEC1 Synonymous SNV S654S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 11.37 253685 chr12 53443982 53443982 G A rs200228943 TNS2 Nonsynonymous SNV G5S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.25 253686 chr16 75269292 75269292 T C rs919436260 BCAR1 Nonsynonymous SNV Q292R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.147 253687 chr16 57003846 57003846 C T rs34716057 CETP Nonsynonymous SNV R154W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.85 253688 chr16 772357 772357 C T rs760115100 ANTKMT Nonsynonymous SNV R153C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 253689 chr2 227662435 227662435 G A rs376825507 IRS1 Synonymous SNV A340A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.144 253690 chr16 84216020 84216020 C T rs555602308 TAF1C Nonsynonymous SNV R170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 253691 chr16 58577331 58577331 C T CNOT1 Synonymous SNV V1538V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.918 253692 chr16 67578624 67578624 C G RIPOR1 Synonymous SNV R924R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.76 253693 chr2 233428993 233428993 C T rs142409429 EIF4E2 Nonsynonymous SNV R58C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 253694 chr16 677523 677523 C T rs749812962 RAB40C Synonymous SNV G249G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 253695 chr16 68721437 68721437 G A rs147208782 CDH3 Synonymous SNV T476T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 12.69 253696 chr16 68941406 68941406 G A rs756238532 TANGO6 Synonymous SNV E576E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.142 253697 chr16 71483357 71483357 T G rs146178964 ZNF23 Nonsynonymous SNV T133P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.788 253698 chr12 64814251 64814251 G A rs148201345 XPOT Nonsynonymous SNV E265K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 253699 chr16 88810270 88810270 T G LOC339059 0 0 0.003 0 0 0 0 1 0 0 0 0 7.034 253700 chr2 239072455 239072455 G A ERFE Nonsynonymous SNV A168T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.854 253701 chr2 239176768 239176768 C T rs150684914 PER2 Nonsynonymous SNV R299Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.148 253702 chr12 71286605 71286605 C T rs200722098 PTPRR Nonsynonymous SNV E71K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 253703 chr16 90110016 90110016 C A URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 7.404 253704 chr17 1174332 1174332 A G rs1008519083 BHLHA9 Nonsynonymous SNV S159G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.166 253705 chr13 36006522 36006522 T C rs201595116 NBEA Nonsynonymous SNV I2099T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 253706 chr17 12647718 12647718 A G rs28730820 MYOCD Synonymous SNV R312R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.94 253707 chr2 25016829 25016829 A G rs139881258 CENPO Nonsynonymous SNV K14R 0 0.005 0 0 0 2 0 0 0 0 0 0 0.004 253708 chr17 1381715 1381715 A T MYO1C Nonsynonymous SNV F428L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 253709 chr12 89917181 89917181 T C GALNT4, POC1B-GALNT4 Synonymous SNV A382A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 253710 chr21 43767595 43767595 C T rs145769308 TFF2 Nonsynonymous SNV D126N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 253711 chr16 85690102 85690102 C T rs374268424 GSE1 Synonymous SNV R277R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.2 253712 chr2 37041490 37041490 C T VIT Stop gain Q654X 0 0.003 0 0 0 1 0 0 0 0 0 0 45 253713 chr17 2237939 2237941 CCA - rs570684854 TSR1 V269del 0.001 0 0.007 0 1 0 0 2 0 0 0 0 253714 chr19 39423322 39423322 C T rs372124871 MRPS12 Synonymous SNV G133G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 253715 chr17 27024932 27024932 G A rs765924727 SUPT6H Synonymous SNV E1444E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 253716 chr17 27438774 27438774 G A rs774637134 MYO18A Synonymous SNV F902F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 253717 chr16 89614510 89614510 G A rs761552945 SPG7 Nonsynonymous SNV R551H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 253718 chr2 68384490 68384490 C T rs768437832 WDR92 Nonsynonymous SNV C29Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.85 253719 chr17 36878418 36878418 C T rs77822666 MLLT6 Synonymous SNV N910N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 253720 chr22 26892217 26892217 G T rs367780258 TFIP11 Synonymous SNV P526P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.22 253721 chr13 39587642 39587642 G A rs201086093 PROSER1 Nonsynonymous SNV R561C 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 253722 chr17 39036134 39036134 C T rs765279504 KRT20 Synonymous SNV E283E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.322 253723 chr2 74326687 74326687 G A rs145565090 TET3 Synonymous SNV P1091P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.246 253724 chr22 30984101 30984101 G A rs41282545 PES1 Synonymous SNV N55N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.2 253725 chr17 39182941 39182941 G A rs375464898 KRTAP1-5 Nonsynonymous SNV P156L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 253726 chr12 76740501 76740501 G A rs375746803 BBS10 Nonsynonymous SNV R422W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 253727 chr17 39550398 39550398 G A rs111342287 KRT31 Nonsynonymous SNV T374M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 253728 chr12 88512345 88512345 A C rs762272190 CEP290 Nonsynonymous SNV I542M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 253729 chr2 96945231 96945231 G A rs769231795 SNRNP200 Synonymous SNV D1697D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.652 253730 chr14 23535178 23535178 C T rs763683387 ACIN1 Nonsynonymous SNV V100I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 253731 chr13 73335830 73335830 T C DIS3 Nonsynonymous SNV K699R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.88 253732 chr22 38478718 38478718 T C rs780287223 SLC16A8 Nonsynonymous SNV S55G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 253733 chr3 101062748 101062748 T C rs182816925 SENP7 Nonsynonymous SNV R466G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 253734 chr19 4817906 4817906 G C rs780257437 TICAM1 Nonsynonymous SNV L162V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 0.014 253735 chr17 33279043 33279043 T C CCT6B Synonymous SNV R135R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.031 253736 chr17 33454415 33454415 C T rs2306508 FNDC8 Synonymous SNV T188T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.988 253737 chr22 46776762 46776762 G T rs140558529 CELSR1 Synonymous SNV P2393P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.16 253738 chr17 4700778 4700778 C T rs139119751 PSMB6 Synonymous SNV H72H 0 0 0.003 2 0 0 0.005 1 0 0 0 0 8.445 253739 chr19 50331754 50331754 C T rs145574885 MED25 Synonymous SNV L118L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.92 253740 chr22 32843235 32843235 T C rs144019646 BPIFC Nonsynonymous SNV N113S 0.003 0.003 0.007 0 4 1 0 2 0 0 0 0 22.9 253741 chr3 121411103 121411103 C T rs547801884 GOLGB1 Nonsynonymous SNV A2290T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 253742 chr22 36205925 36205925 C T rs759241446 RBFOX2 Nonsynonymous SNV G52S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 253743 chr19 51133335 51133335 G C rs144661464 SYT3 Synonymous SNV P256P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.582 253744 chr3 125238961 125238961 G A rs753507857 SNX4 Nonsynonymous SNV P19L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 253745 chr17 56620873 56620873 T C SEPTIN4 Synonymous SNV L225L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.394 253746 chr3 126224586 126224586 G A rs745450704 UROC1 Synonymous SNV A257A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.397 253747 chr17 59955449 59955449 G A rs762759222 INTS2 Nonsynonymous SNV A752V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 253748 chr3 12857409 12857409 G A rs1031710232 CAND2 Nonsynonymous SNV R355Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 253749 chr3 129268122 129268122 C T rs147091961 H1-8 Synonymous SNV P80P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.443 253750 chr17 62579589 62579589 G A rs139943497 SMURF2 Nonsynonymous SNV R187C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 253751 chr14 23310743 23310743 G A rs890078571 MMP14 Nonsynonymous SNV R51H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 253752 chr14 23311764 23311764 G A rs145801508 MMP14 Nonsynonymous SNV D176N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 253753 chr3 13399830 13399830 G A rs369988100 NUP210 Synonymous SNV A740A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.088 253754 chr22 46656304 46656304 G A rs56301018 PKDREJ Synonymous SNV S972S 0.002 0.008 0.01 0 2 3 0 3 0 0 1 0 1.275 253755 chr3 138191646 138191646 C T ESYT3 Nonsynonymous SNV L728F 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 253756 chr17 7226412 7226412 C T rs759680352 NEURL4 Synonymous SNV T816T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 253757 chr14 93398764 93398764 G C CHGA Nonsynonymous SNV E135D 0.004 0 0 0 5 0 0 0 0 0 0 0 16.76 253758 chr17 73813490 73813490 G C UNK Synonymous SNV L396L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.043 253759 chr13 40297485 40297485 G T rs146484408 COG6 Nonsynonymous SNV D534Y 0 0.003 0 0 0 1 0 0 0 0 0 0 33 253760 chr17 74006497 74006497 C T rs745583770 EVPL Nonsynonymous SNV R952Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.429 253761 chr13 41834703 41834703 G A rs139754010 MTRF1 Nonsynonymous SNV A114V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.8 253762 chr17 74477568 74477568 A G rs778045330 RHBDF2 Synonymous SNV S13S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.254 253763 chr14 53348065 53348065 T C FERMT2 Nonsynonymous SNV N217D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 253764 chr17 76134756 76134756 G A rs535003756 TMC8 Nonsynonymous SNV R589H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.1 253765 chr17 76420229 76420229 G A rs201682545 DNAH17 Nonsynonymous SNV R4383C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 253766 chr3 183772519 183772519 C T rs143289420 HTR3C Synonymous SNV D26D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.81 253767 chr13 97485295 97485295 A T rs140922305 HS6ST3 Nonsynonymous SNV H420L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 253768 chr17 78353509 78353509 G C RNF213 Synonymous SNV L4545L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.17 253769 chr3 186944198 186944198 G A MASP1 Synonymous SNV L518L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.043 253770 chr3 189838492 189838492 A G rs774895793 P3H2 Nonsynonymous SNV L10P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 1.42 253771 chr2 179247840 179247840 C T OSBPL6 Synonymous SNV L540L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.12 253772 chr17 62050051 62050051 C T rs751390409 SCN4A Nonsynonymous SNV E51K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.36 253773 chr14 70518796 70518796 C T SLC8A3 Nonsynonymous SNV E5K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 253774 chr19 58988859 58988859 G A rs777816842 ZNF446 Nonsynonymous SNV G92S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 253775 chr1 2573330 2573330 G A rs772710901 TTC34 Nonsynonymous SNV A906V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 253776 chr2 152466521 152466521 T C NEB Synonymous SNV E3801E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.095 253777 chr17 80333300 80333301 CT - rs768875266 UTS2R T367Rfs*54 0 0 0.007 0 0 0 0 2 0 0 0 0 253778 chr3 195594326 195594326 C T rs751199844 TNK2 Nonsynonymous SNV R965Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.462 253779 chr2 166535763 166535763 G A rs142235040 CSRNP3 Nonsynonymous SNV E420K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 253780 chr2 187534469 187534469 C T rs141095012 ITGAV Synonymous SNV A842A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.35 253781 chr18 12254859 12254859 G C CIDEA Nonsynonymous SNV G15A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.162 253782 chr2 187697902 187697902 T G rs771479870 ZSWIM2 Nonsynonymous SNV I296L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 253783 chr2 191301700 191301700 G A rs149704922 MFSD6 Synonymous SNV Q315Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 1.14 253784 chr18 20716513 20716513 C T CABLES1 Synonymous SNV L263L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.52 253785 chr3 38519671 38519671 C T rs199622012 ACVR2B Nonsynonymous SNV T137M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 23.1 253786 chr17 73555479 73555479 C T rs148746317 LLGL2 Nonsynonymous SNV A173V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 253787 chr17 73627242 73627242 C T rs201834853 RECQL5 Nonsynonymous SNV M512I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 25.2 253788 chr18 29867720 29867720 C T GAREM1 Synonymous SNV T280T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 253789 chr18 3067512 3067512 C T rs376121702 MYOM1 Synonymous SNV P1506P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.88 253790 chr14 24657425 24657425 G A rs778689897 IPO4 Nonsynonymous SNV T92I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 253791 chr14 24838891 24838891 G A rs200694133 NFATC4 Nonsynonymous SNV G96E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 253792 chr2 179650740 179650740 G A rs1005406948 TTN Synonymous SNV Y689Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.845 253793 chr15 102197131 102197136 TAAAAT - TARS3 N750_F751del 0 0 0 1 0 0 0.003 0 0 0 0 0 253794 chr18 44140083 44140083 G A rs370616818 LOXHD1 Synonymous SNV V1008V 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.49 253795 chr18 44774465 44774470 CGCCCA - SKOR2 V362_G363del 0 0 0.003 0 0 0 0 1 0 0 0 0 253796 chr18 46576073 46576073 A T rs754296345 MIR4744 0 0 0.003 0 0 0 0 1 0 0 0 0 3.931 253797 chr18 46784751 46784751 C T DYM Nonsynonymous SNV R454Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 253798 chr1 45243518 45243518 C G rs763237517 SNORD38A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.26 253799 chr1 46726951 46726951 G T rs141226335 RAD54L Nonsynonymous SNV R82L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.7 253800 chr15 35202441 35202441 C T rs775882659 AQR Nonsynonymous SNV V520I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 253801 chr3 46496788 46496788 A G rs763669047 LTF Nonsynonymous SNV F171S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 253802 chr17 78064169 78064169 - AACACAGGACACACACAGCACGTGCATGAAC CCDC40 Stop gain E1022_H1023delinsEHRTHTARAX 0 0 0 1 0 0 0.003 0 0 0 0 0 253803 chr3 46777830 46777830 A T rs773922660 PRSS46P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.05 253804 chr3 46963757 46963757 C A rs897748537 CCDC12 Nonsynonymous SNV K129N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 253805 chr3 47035501 47035501 C T rs551504181 NBEAL2 Synonymous SNV P362P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.8 253806 chr2 196545530 196545530 A G rs761343151 SLC39A10 Nonsynonymous SNV H255R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.02 253807 chr3 48506914 48506914 G A rs201794728 ATRIP Synonymous SNV A752A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.17 253808 chr3 49094382 49094382 G A rs746647119 QRICH1 Synonymous SNV D417D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.917 253809 chr3 49700310 49700310 G A rs182312851 BSN Synonymous SNV A3573A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.131 253810 chr14 58598337 58598337 G A rs145807752 ARMH4 Nonsynonymous SNV P575L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.67 253811 chr15 74500058 74500058 G A rs1046077824 STRA6 Stop gain Q4X 0.001 0 0 0 1 0 0 0 0 0 0 0 1.798 253812 chr1 110466498 110466498 C G CSF1 Nonsynonymous SNV L419V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 253813 chr1 110466663 110466663 G A rs548942397 CSF1 Nonsynonymous SNV V474I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 253814 chr17 79981558 79981558 G A rs774934926 LRRC45 Synonymous SNV R13R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.39 253815 chr3 52552594 52552594 G A rs746734339 STAB1 Nonsynonymous SNV V1618M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 253816 chr14 64625423 64625423 G T rs369336217 SYNE2 Nonsynonymous SNV M5291I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.91 253817 chr17 80897299 80897299 C T rs200304548 TBCD Synonymous SNV V1142V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Likely benign 11.72 253818 chr14 68234497 68234497 G C rs117250367 ZFYVE26 Nonsynonymous SNV A1905G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 253819 chr15 51289709 51289709 A C AP4E1 Nonsynonymous SNV K770Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.023 253820 chr3 53910726 53910726 G T rs145006384 ACTR8 Synonymous SNV I233I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.66 253821 chr1 114515994 114515994 C T rs150473583 HIPK1 Nonsynonymous SNV L771F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 253822 chr1 75038714 75038714 C T rs149957800 ERICH3 Nonsynonymous SNV E894K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 253823 chr1 117552675 117552675 G A rs201531719 CD101 Nonsynonymous SNV A83T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 253824 chr18 13741628 13741628 G A rs760177615 RNMT Synonymous SNV A304A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.743 253825 chr3 73673466 73673466 C G PDZRN3 Nonsynonymous SNV G171R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 253826 chr19 12863439 12863439 C T rs750931656 BEST2 Synonymous SNV N11N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 253827 chr19 12876950 12876950 T C rs760001508 HOOK2 Nonsynonymous SNV N493S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 253828 chr19 12902963 12902963 C T rs768354031 JUNB Synonymous SNV G126G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 253829 chr19 13010820 13010820 G C SYCE2 Nonsynonymous SNV Q204E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 253830 chr18 2892241 2892241 G A EMILIN2 Nonsynonymous SNV V706M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 253831 chr19 13930237 13930237 G A rs751893324 ZSWIM4 Nonsynonymous SNV R547H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 253832 chr1 1309692 1309692 C T rs11548465 AURKAIP1 Synonymous SNV E62E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.55 253833 chr19 14584638 14584646 GGCCACCGC - rs760718813 PTGER1 A163_A165del 0 0 0.003 0 0 0 0 1 0 0 0 0 253834 chr19 14866599 14866599 A G rs139372786 ADGRE2 Nonsynonymous SNV L428P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.341 253835 chr19 15230800 15230800 G A rs201670039 ILVBL Nonsynonymous SNV P270L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.81 253836 chr18 3729205 3729205 C A DLGAP1 Nonsynonymous SNV E205D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.057 253837 chr4 10089388 10089388 G A rs768545774 WDR1 Synonymous SNV S158S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 253838 chr1 151211652 151211652 G A PIP5K1A Nonsynonymous SNV G386R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 253839 chr4 109000649 109000649 C T rs151041212 LEF1 Nonsynonymous SNV V254M 0 0.003 0.01 0 0 1 0 3 0 0 0 0 23.4 253840 chr4 110441632 110441632 A G rs762084387 SEC24B Nonsynonymous SNV D711G 0 0.003 0 0 0 1 0 0 0 0 0 0 33 253841 chr4 113506775 113506775 G A rs17044834 ZGRF1 Synonymous SNV N1283N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.975 253842 chr15 83926805 83926805 G A rs201142132 BNC1 Nonsynonymous SNV R785C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 253843 chr1 153509904 153509906 CTC - S100A5 E49del 0.001 0 0 0 1 0 0 0 0 0 0 0 253844 chr16 1420264 1420264 C T rs1039992026 UNKL Synonymous SNV S484S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 253845 chr1 156131199 156131199 G A SEMA4A Synonymous SNV L159L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.615 253846 chr15 23811339 23811339 C T rs547482089 MKRN3 Nonsynonymous SNV A137V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.97 253847 chr1 156214595 156214595 G C rs189957556 PAQR6 Nonsynonymous SNV P17R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 253848 chr19 19576420 19576420 A C rs762594581 GATAD2A Nonsynonymous SNV H89P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 253849 chr1 156497822 156497822 C T rs144640189 IQGAP3 Synonymous SNV P1568P 0.003 0 0 0 3 0 0 0 0 0 0 0 17.87 253850 chr19 19756258 19756258 C T rs756871189 ATP13A1 Synonymous SNV G1196G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 253851 chr4 146475164 146475164 T C rs765987226 SMAD1 Nonsynonymous SNV M409T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 253852 chr2 242757777 242757777 C T rs368050529 NEU4 Synonymous SNV P299P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.62 253853 chr15 34014980 34014980 C T rs367645223 RYR3 Synonymous SNV F2228F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 18.59 253854 chr20 2841100 2841100 G A rs144621348 VPS16 Synonymous SNV V125V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.157 253855 chr2 46707761 46707761 A G TMEM247 Nonsynonymous SNV E112G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.4 253856 chr15 40751580 40751580 G A rs547062532 BAHD1 Nonsynonymous SNV S306N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.344 253857 chr1 159904344 159904344 C - IGSF9 V278Cfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 253858 chr15 41809872 41809872 G T rs755482342 RPAP1 Synonymous SNV L1350L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.944 253859 chr2 31000482 31000482 G T rs773161614 CAPN13 Nonsynonymous SNV H74Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.2 253860 chr15 44943790 44943790 A G SPG11 Nonsynonymous SNV L452P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 253861 chr4 183714418 183714418 G A rs201676320 TENM3 Nonsynonymous SNV R2198H 0 0.003 0 0 0 1 0 0 0 0 0 0 23 253862 chr15 48057215 48057215 C T rs148847985 SEMA6D Synonymous SNV S463S 0 0.003 0 0 0 1 0 0 0 0 0 0 20 253863 chr1 169437925 169437925 C G SLC19A2 Nonsynonymous SNV V193L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 253864 chr4 25384994 25384994 T C rs376010530 ANAPC4 Nonsynonymous SNV M116T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.259 253865 chr4 36212146 36212146 A G rs907898330 ARAP2 Synonymous SNV Y451Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 253866 chr1 183155488 183155488 A G rs886045625 LAMC2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 253867 chr15 72968703 72968703 C T rs982765843 HIGD2B Nonsynonymous SNV G5S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 253868 chr15 75134642 75134642 A - ULK3 I74Mfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 253869 chr1 19441957 19441957 C T rs148043514 UBR4 Synonymous SNV S3666S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 253870 chr20 25197364 25197364 C T rs370052316 ENTPD6 Nonsynonymous SNV R46C 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 253871 chr20 25262759 25262759 G A rs199882961 PYGB Synonymous SNV P498P 0 0 0 2 0 0 0.005 0 0 0 0 0 11.26 253872 chr19 17895643 17895643 C T rs546367278 FCHO1 Nonsynonymous SNV T729M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 253873 chr19 44680689 44680689 G A rs757018462 ZNF226 Nonsynonymous SNV G425D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 253874 chr19 18193065 18193065 G A rs150070244 IL12RB1 Nonsynonymous SNV S45L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 3.142 253875 chr1 200811149 200811149 C A CAMSAP2 Nonsynonymous SNV L319M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 253876 chr15 79749630 79749630 C T rs373558330 MINAR1 Nonsynonymous SNV R381W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 253877 chr3 119530423 119530423 C T rs147693239 NR1I2 Synonymous SNV A123A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.27 253878 chr4 57842977 57842977 C G rs201998848 NOA1 Nonsynonymous SNV G259R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 253879 chr20 36760894 36760894 C A rs2229473 TGM2 Nonsynonymous SNV V461F 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 18.45 253880 chr4 6303124 6303124 C G WFS1 Stop gain Y534X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 253881 chr3 108391473 108391473 C T rs371315606 DZIP3 Synonymous SNV N853N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.3 253882 chr19 47570078 47570078 G A rs751113699 ZC3H4 Synonymous SNV Y1149Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.982 253883 chr21 33043970 33043970 A C rs767821506 SCAF4 Nonsynonymous SNV D1047E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 253884 chr4 73186525 73186525 C T rs138352532 ADAMTS3 Synonymous SNV A336A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.161 253885 chr3 127395201 127395201 G A ABTB1 Nonsynonymous SNV R136H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 253886 chr1 205904888 205904888 C T rs202228683 SLC26A9 Nonsynonymous SNV D21N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 253887 chr21 37518393 37518393 - AGTTTGC CBR3 Frameshift insertion C143Ffs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 253888 chr19 35786805 35786805 C G MAG Synonymous SNV G87G 0 0 0 3 0 0 0.008 0 0 0 0 0 8.094 253889 chr21 44151888 44151888 G A rs746415649 PDE9A Nonsynonymous SNV E24K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 253890 chr3 134269053 134269053 G A rs140451650 CEP63 Nonsynonymous SNV R398Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.06 253891 chr4 88116574 88116574 C A KLHL8 Nonsynonymous SNV D40Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 253892 chr1 22140946 22140946 C G rs759857834 LDLRAD2 Synonymous SNV R47R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.989 253893 chr4 89039336 89039336 G A rs1019617118 ABCG2 Nonsynonymous SNV L256F 0 0.003 0 0 0 1 0 0 0 0 0 0 29 253894 chr19 37618161 37618161 T G ZNF420 Nonsynonymous SNV L90V 0 0 0 3 0 0 0.008 0 0 0 0 0 0.002 253895 chr16 775257 775257 G A rs200825023 CCDC78 Stop gain Q158X 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 253896 chr3 150661734 150661734 G A rs142185813 CLRN1 Nonsynonymous SNV H100Y 0 0.005 0 0 0 2 0 0 0 0 0 0 3.309 253897 chr16 1035164 1035164 C T rs764104182 SOX8 Synonymous SNV A373A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.06 253898 chr19 5229336 5229336 C A rs368655375 PTPRS Synonymous SNV T789T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 253899 chr16 1143758 1143758 G C C1QTNF8 Nonsynonymous SNV L168V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.72 253900 chr19 53086007 53086007 A C rs748803266 ZNF701 Nonsynonymous SNV K232T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.639 253901 chr19 53645142 53645142 G A rs147340759 ZNF347 Synonymous SNV G314G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.607 253902 chr16 1841214 1841214 C T rs370544997 IGFALS Nonsynonymous SNV R440H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.727 253903 chr22 19050752 19050752 G A rs773231212 DGCR2 Synonymous SNV N155N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.9 253904 chr19 53884489 53884489 G A rs775891067 ZNF525 Synonymous SNV E219E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.662 253905 chr19 54081135 54081135 T C ZNF331 Nonsynonymous SNV C441R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 253906 chr19 54599315 54599315 G C rs772127415 OSCAR Nonsynonymous SNV F148L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.6 253907 chr5 131329841 131329841 C T rs150110457 ACSL6 Synonymous SNV S51S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.68 253908 chr5 131539462 131539462 T C rs144253110 P4HA2 Synonymous SNV V351V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.033 253909 chr19 55445053 55445053 C A rs771685682 NLRP7 Nonsynonymous SNV L842F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 253910 chr5 132159203 132159203 G A rs368508788 SHROOM1 Synonymous SNV A655A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.887 253911 chr5 132159818 132159818 C T rs762824810 SHROOM1 Nonsynonymous SNV G512D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.076 253912 chr17 4349371 4349371 G A rs756360409 SPNS3 Nonsynonymous SNV G17D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 253913 chr3 186954192 186954192 C T rs149695036 MASP1 Synonymous SNV A489A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 15.68 253914 chr16 5077865 5077865 C T rs111884194 NAGPA Nonsynonymous SNV G386R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 253915 chr16 89776269 89776269 G C rs200105339 VPS9D1 Nonsynonymous SNV T435R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 253916 chr19 56538499 56538499 G A rs756821750 NLRP5 Synonymous SNV V300V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.207 253917 chr1 237813206 237813206 G A rs371088367 RYR2 Synonymous SNV L2514L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.05 253918 chr5 140346414 140346414 C G PCDHAC2 Synonymous SNV P21P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.681 253919 chr19 5789353 5789353 G C rs202034781 DUS3L Synonymous SNV P255P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 253920 chr19 45853937 45853937 - TCTATCAGGC rs755958597 KLC3 Frameshift insertion R441Lfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 253921 chr19 46002175 46002175 G C PPM1N Nonsynonymous SNV E149Q 0 0 0 3 0 0 0.008 0 0 0 0 0 7.872 253922 chr19 46180643 46180643 T C GIPR 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 253923 chr16 23716385 23716385 G A rs201823597 ERN2 Synonymous SNV L225L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.191 253924 chr19 5978076 5978076 G A rs201380454 RANBP3 Synonymous SNV N6N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 253925 chr19 610363 610363 C T rs141337133 HCN2 Synonymous SNV D514D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 253926 chr3 37367644 37367644 A G GOLGA4 Nonsynonymous SNV T1423A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.002 253927 chr3 38049996 38049996 C T rs139406465 PLCD1 Nonsynonymous SNV A640T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.83 253928 chr19 622834 622834 C G rs146178977 POLRMT Nonsynonymous SNV R481P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.77 253929 chr16 50338848 50338848 C T rs772518275 ADCY7 Nonsynonymous SNV R525C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 253930 chr19 8201285 8201285 G A rs146336790 FBN3 Synonymous SNV R444R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.289 253931 chr1 2939291 2939291 C T rs918745739 ACTRT2 Synonymous SNV I347I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.37 253932 chr22 50502490 50502490 G A rs199707637 MLC1 Synonymous SNV N344N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.885 253933 chr5 154395644 154395644 G A rs376936430 KIF4B Nonsynonymous SNV R742Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 253934 chr5 156349164 156349164 C T rs756150947 TIMD4 Nonsynonymous SNV A292T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.33 253935 chr3 3084726 3084726 G A rs140755953 CNTN4 Synonymous SNV Q530Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 6.573 253936 chr5 159833527 159833527 C T rs775117740 SLU7 Nonsynonymous SNV R427Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 253937 chr19 52207586 52207586 G T SPACA6 Nonsynonymous SNV W265L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.22 253938 chr1 38273551 38273551 G A YRDC Nonsynonymous SNV A101V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 253939 chr16 68909090 68909090 C T rs199843372 TANGO6 Nonsynonymous SNV T343M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.929 253940 chr19 994043 994043 C T rs762859652 WDR18 Nonsynonymous SNV R375C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 253941 chr5 176943403 176943403 C T rs368429550 DDX41 Nonsynonymous SNV E62K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 253942 chr17 36483583 36483583 C T rs555226767 GPR179 Nonsynonymous SNV V1957I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 253943 chr2 113417283 113417283 C T rs181513521 SLC20A1 Synonymous SNV F517F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.8 253944 chr2 113539358 113539358 T C rs369264124 IL1A Nonsynonymous SNV M48V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 253945 chr1 109793499 109793499 G C rs200088003 CELSR2 Nonsynonymous SNV M266I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.718 253946 chr5 179133328 179133328 T G rs766551548 CANX Nonsynonymous SNV S81A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 253947 chr5 179192583 179192583 T C rs780729908 MAML1 Nonsynonymous SNV L191P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.4 253948 chr1 110260005 110260005 G A rs781731912 GSTM5 Nonsynonymous SNV R205Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.24 253949 chr1 45974495 45974495 C T rs757325789 MMACHC Stop gain R96X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 36 253950 chr19 54659497 54659497 G A rs777385300 LENG1 Nonsynonymous SNV R253W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 253951 chr2 128387339 128387339 C T rs773776637 MYO7B Synonymous SNV L1556L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.599 253952 chr1 1168173 1168173 C T rs200646244 B3GALT6 Nonsynonymous SNV A172V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.59 253953 chr5 36629597 36629597 G A rs148490778 SLC1A3 Nonsynonymous SNV R76Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.8 253954 chr16 87348657 87348657 A G rs747946100 C16orf95 Nonsynonymous SNV F84L 0 0.003 0 0 0 1 0 0 0 0 0 0 21 253955 chr5 39134313 39134313 C T FYB1 Nonsynonymous SNV S615N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 253956 chr17 39636905 39636905 G A rs200159958 KRT35 Nonsynonymous SNV R149W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 253957 chr16 88599691 88599691 G C rs779826409 ZFPM1 Nonsynonymous SNV R442T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 253958 chr1 62550278 62550278 A G PATJ Synonymous SNV S1445S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.281 253959 chr1 62737195 62737195 C T rs143560315 KANK4 Nonsynonymous SNV G28D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 253960 chr16 88851364 88851364 C A rs1021078734 PIEZO1 Synonymous SNV P3P 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 253961 chr1 145515725 145515725 T A GNRHR2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.092 253962 chr1 146650280 146650280 T G rs138491716 PDIA3P1 0 0 0.014 0 0 0 0 4 0 0 0 0 3.201 253963 chr1 6649255 6649255 G T ZBTB48 Stop gain E684X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 253964 chr5 55422824 55422824 G A rs61741177 ANKRD55 Nonsynonymous SNV A241V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 253965 chr5 56177561 56177561 G A rs750114442 MAP3K1 Nonsynonymous SNV S845N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 253966 chr4 109087433 109087433 C A rs200583270 LEF1 Nonsynonymous SNV A2S 0.005 0.003 0 0 6 1 0 0 0 0 0 0 23 253967 chr17 45056072 45056072 A G RPRML Nonsynonymous SNV F101S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 253968 chr19 58083655 58083655 T C ZNF416 Synonymous SNV Q467Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 253969 chr1 154558660 154558660 A G rs758120128 ADAR Synonymous SNV L772L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.154 253970 chr1 155058979 155058979 T - EFNA3 V226Gfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 253971 chr1 155178993 155178993 G C rs200737782 MTX1 Nonsynonymous SNV G133A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.008 253972 chr5 75979027 75979027 G A rs185223948 IQGAP2 Nonsynonymous SNV V746M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 253973 chr17 56342245 56342245 C T rs200863241 LPO Nonsynonymous SNV R394C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 253974 chr1 156622287 156622287 G A rs139064894 BCAN Synonymous SNV L515L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.633 253975 chr5 95743992 95743992 - A PCSK1 Frameshift insertion H378Afs*39 0 0.003 0 0 0 1 0 0 0 0 0 0 253976 chr5 95743995 95743995 - AT PCSK1 Stop gain T377* 0 0.003 0 0 0 1 0 0 0 0 0 0 253977 chr5 95743997 95743998 CC - PCSK1 E376Dfs*40 0 0.003 0 0 0 1 0 0 0 0 0 0 253978 chr5 95744003 95744003 - G PCSK1 Frameshift insertion C374Lfs*43 0 0.003 0 0 0 1 0 0 0 0 0 0 253979 chr20 1551686 1551686 C G SIRPB1 Nonsynonymous SNV Q283H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.405 253980 chr4 140272424 140272424 G A rs371981648 NAA15 Synonymous SNV P297P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.71 253981 chr17 9820571 9820571 T C GAS7 Nonsynonymous SNV I329V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.839 253982 chr20 17622498 17622498 C T RRBP1 Nonsynonymous SNV A710T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 253983 chr1 169438042 169438044 TTA - rs775393998 SLC19A2 I153del 0 0 0.003 0 0 0 0 1 0 0 0 0 253984 chr1 169511464 169511464 C A rs199507543 F5 Nonsynonymous SNV S955I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.4 253985 chr1 17596782 17596782 C G rs532392877 PADI3 Nonsynonymous SNV S236C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 253986 chr20 25666223 25666223 C T rs375335236 ZNF337 Nonsynonymous SNV R77H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.646 253987 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 253988 chr1 181767911 181767911 A T rs377536482 CACNA1E Nonsynonymous SNV M2233L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 253989 chr6 143780313 143780313 A G rs41285015 PEX3 Synonymous SNV Q55Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.44 253990 chr6 146056499 146056499 C G rs374338349 EPM2A Nonsynonymous SNV A46P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.79 253991 chr6 146126397 146126397 G C rs17075385 FBXO30 Nonsynonymous SNV S382C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 253992 chr6 146207508 146207508 T G rs183496929 LOC100507557 0 0.003 0 0 0 1 0 0 0 0 0 0 6.782 253993 chr6 146275983 146275983 T G rs117586623 SHPRH Nonsynonymous SNV D159A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 20.9 253994 chr6 146351277 146351277 C T rs112670841 GRM1 Synonymous SNV D208D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 8.774 253995 chr20 36642186 36642186 A G rs766509760 TTI1 Synonymous SNV F11F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 253996 chr17 31322651 31322651 G A rs201128410 SPACA3 Nonsynonymous SNV A87T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 253997 chr4 186111974 186111974 T C CFAP97 Nonsynonymous SNV E126G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 253998 chr6 151055101 151055101 C T PLEKHG1 Nonsynonymous SNV S154L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.04 253999 chr20 3785491 3785491 C T rs769908194 CDC25B Synonymous SNV Y350Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 254000 chr1 198668815 198668815 G C rs200531350 PTPRC Nonsynonymous SNV G141R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.289 254001 chr1 6646841 6646841 C T rs144264175 ZBTB48 Synonymous SNV P377P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.42 254002 chr17 34073093 34073093 G A rs142992033 GAS2L2 Nonsynonymous SNV R475W 0 0.003 0 0 0 1 0 0 0 0 0 0 9.18 254003 chr17 36493018 36493018 A G rs747110718 GPR179 Nonsynonymous SNV L357P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.17 254004 chr20 43681763 43681763 T C rs767621811 STK4 Nonsynonymous SNV C448R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 254005 chr1 11826601 11826601 G A rs574933296 C1orf167 Nonsynonymous SNV R253Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.861 254006 chr6 15501422 15501422 G A rs142763537 JARID2 Nonsynonymous SNV D572N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21.8 254007 chr4 25258297 25258297 - T PI4K2B 0.001 0.003 0 0 1 1 0 0 0 0 0 0 254008 chr4 25671299 25671299 C T rs78013784 SLC34A2 Synonymous SNV F221F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Benign 15 254009 chr17 38319892 38319892 G T rs372980819 CASC3 Nonsynonymous SNV R315L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 254010 chr1 202931786 202931786 G A rs764960509 CYB5R1 Nonsynonymous SNV R263W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 254011 chr18 8777848 8777848 A C rs774666900 MTCL1 Nonsynonymous SNV R125S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 254012 chr1 12175651 12175651 A T rs141890526 TNFRSF8 Nonsynonymous SNV T160S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.13 254013 chr1 205034959 205034959 C T rs185787873 CNTN2 Nonsynonymous SNV R580C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 254014 chr1 16053726 16053726 G C rs376491799 PLEKHM2 Nonsynonymous SNV E387Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 254015 chr1 20656834 20656834 G A rs374467436 VWA5B1 Synonymous SNV G472G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.28 254016 chr1 20662871 20662871 G A rs370309848 VWA5B1 Nonsynonymous SNV G612R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 254017 chr1 2066747 2066747 T A rs758570789 PRKCZ Synonymous SNV R23R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 254018 chr6 161470307 161470307 G A rs35730939 MAP3K4 Nonsynonymous SNV V335I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 254019 chr1 207265067 207265067 C T rs754303721 C4BPB Nonsynonymous SNV T104M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 254020 chr4 71705203 71705203 C G GRSF1 Synonymous SNV T114T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.39 254021 chr20 55967534 55967534 G A RBM38 Nonsynonymous SNV V107M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.423 254022 chr1 209605636 209605636 - AGC rs565985624 MIR205HG 0 0 0.003 0 0 0 0 1 0 0 0 0 254023 chr17 39537455 39537455 C T rs569950771 KRT34 Synonymous SNV T189T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.21 254024 chr17 39551156 39551156 G C rs759685551 KRT31 Synonymous SNV A347A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.436 254025 chr17 39551159 39551159 A C rs752841027 KRT31 Synonymous SNV R346R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.076 254026 chr17 39551165 39551165 A G rs764396471 KRT31 Synonymous SNV D344D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 254027 chr17 39551180 39551180 G A rs371841210 KRT31 Synonymous SNV Y339Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.11 254028 chr1 210010324 210010324 C G rs61745236 UTP25 Nonsynonymous SNV P277R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 254029 chr6 168464304 168464304 C T rs61751866 FRMD1 Nonsynonymous SNV V193M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 254030 chr17 39637094 39637094 C A rs757128527 KRT35 Nonsynonymous SNV G86C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 254031 chr1 19510611 19510611 C T rs142687899 UBR4 Nonsynonymous SNV R666Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 254032 chr20 58348447 58348447 C G rs373371486 PHACTR3 Nonsynonymous SNV P178A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 254033 chr6 17706547 17706547 C A rs200171293 NUP153 Synonymous SNV G24G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.53 254034 chr1 214803982 214803982 G A rs189714127 CENPF Nonsynonymous SNV V434I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 254035 chr18 33706648 33706665 TGGTCTGAGTGATGCTCG - rs767287560 SLC39A6 H104_E109del 0.001 0 0 0 1 0 0 0 0 0 0 0 254036 chr1 220338117 220338117 T C rs144779240 RAB3GAP2 Nonsynonymous SNV I1038V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.466 254037 chr6 26091185 26091185 A T rs1800730 HFE Nonsynonymous SNV S65C 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 Uncertain significance 25.1 254038 chr17 42432226 42432226 C T rs919565125 FAM171A2 Synonymous SNV G452G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.53 254039 chr17 45291179 45291179 C T rs143234546 MYL4 Synonymous SNV A50A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.21 254040 chr4 68380367 68380367 G A rs369416101 CENPC Nonsynonymous SNV S290L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.54 254041 chr17 46703197 46703197 C T rs1036682235 HOXB9 Synonymous SNV E145E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 14.82 254042 chr6 33703206 33703206 C T IP6K3 Synonymous SNV V16V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.14 254043 chr1 157559073 157559073 C T rs149421908 FCRL4 Synonymous SNV E76E 0 0 0 2 0 0 0.005 0 0 0 0 0 5.129 254044 chr5 112175503 112175503 C A rs144655979 APC Synonymous SNV S1386S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 13.83 254045 chr1 230846558 230846558 G A rs61757171 AGT Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.112 254046 chr17 61776417 61776417 C T rs199625729 LIMD2 Nonsynonymous SNV G19S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.025 254047 chr4 83970375 83970375 A G COPS4 Nonsynonymous SNV T71A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.783 254048 chr18 43487990 43487990 G C EPG5 Nonsynonymous SNV T1421S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.8 254049 chr5 115824656 115824656 C T rs773059701 SEMA6A Nonsynonymous SNV A195T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 254050 chr1 235647740 235647740 A T B3GALNT2 Synonymous SNV V151V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.738 254051 chr4 88116545 88116545 A T rs141011760 KLHL8 Synonymous SNV A49A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 6.498 254052 chr18 60231813 60231813 G A ZCCHC2 Nonsynonymous SNV E566K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 254053 chr18 685940 685940 A G ENOSF1 Nonsynonymous SNV I60T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 254054 chr6 49494408 49494408 C T rs374219565 GLYATL3 Synonymous SNV Y216Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.407 254055 chr2 74652817 74652817 A G rs759310425 WDR54 Nonsynonymous SNV S347G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.32 254056 chr17 76482366 76482366 G A rs145820267 DNAH17 Synonymous SNV Y2347Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.448 254057 chr22 19130070 19130070 G A rs146347276 ESS2 Synonymous SNV R127R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.093 254058 chr1 26526377 26526377 C T rs755689621 CATSPER4 Nonsynonymous SNV T272I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.453 254059 chr6 7880445 7880445 G A rs368529770 BMP6 Nonsynonymous SNV E471K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 254060 chr6 88140766 88140766 T C CFAP206 Nonsynonymous SNV V392A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 254061 chr6 88366652 88366652 G A rs373490954 ORC3 Synonymous SNV G372G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.96 254062 chr1 3662976 3662976 G A TP73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.604 254063 chr1 36809542 36809542 C T rs773872076 STK40 Nonsynonymous SNV R313Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 254064 chr6 99353385 99353385 T C rs747657121 FBXL4 Synonymous SNV L340L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Uncertain significance 0.364 254065 chr7 100175847 100175847 C T rs774845337 LRCH4 Nonsynonymous SNV D295N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 254066 chr1 39909170 39909170 T C rs769900710 MACF1 Nonsynonymous SNV M4393T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 254067 chr1 43218010 43218010 C G rs139259804 P3H1 Nonsynonymous SNV G502R 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 254068 chr18 9257531 9257533 TGT - ANKRD12 V1400del 0 0.003 0 0 0 1 0 0 0 0 0 0 254069 chr1 43812237 43812237 G T rs149810307 MPL Nonsynonymous SNV V368L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.3 254070 chr5 149441148 149441148 G A rs149436601 CSF1R Synonymous SNV L588L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.94 254071 chr5 150027615 150027615 C T rs370582944 SYNPO Synonymous SNV G170G 0 0.005 0.003 0 0 2 0 1 0 0 0 0 13.25 254072 chr18 32558480 32558483 GAAT - rs534772399 MAPRE2 Star tloss M1? 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 254073 chr1 54060000 54060000 G A rs569988372 GLIS1 Synonymous SNV A192A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.938 254074 chr1 54060199 54060199 G A rs201535528 GLIS1 Nonsynonymous SNV S126L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 254075 chr19 17212630 17212630 C T rs767748625 MYO9B Nonsynonymous SNV R35C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.01 254076 chr18 43490557 43490557 T C rs200489622 EPG5 Synonymous SNV E1378E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 3.918 254077 chr22 43280404 43280404 G T rs200427054 PACSIN2 Nonsynonymous SNV S217Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.4 254078 chr1 212560383 212560383 C G PACC1 Nonsynonymous SNV V65L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 254079 chr5 156964944 156964944 G C rs11134804 ADAM19 Nonsynonymous SNV Q103E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.79 254080 chr7 105029694 105029694 G T SRPK2 Synonymous SNV R42R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.555 254081 chr19 17844051 17844051 G A MAP1S Synonymous SNV P920P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.428 254082 chr22 46654035 46654035 C T rs9626829 PKDREJ Nonsynonymous SNV V1729I 0.003 0 0 0 3 0 0 0 1 0 0 0 1.552 254083 chr7 11509538 11509538 T C rs188403555 THSD7A Nonsynonymous SNV D779G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 254084 chr22 46704555 46704555 G A rs34660725 GTSE1 Synonymous SNV T159T 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 11.4 254085 chr22 46704734 46704734 C T rs34404175 GTSE1 Nonsynonymous SNV A219V 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 6.933 254086 chr22 46708152 46708152 G A rs35503220 GTSE1 Nonsynonymous SNV A293T 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 0.002 254087 chr22 46752829 46752829 C T rs34152016 TRMU Nonsynonymous SNV A230V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.23 254088 chr22 46759981 46759981 G C rs61741871 CELSR1 Nonsynonymous SNV P2983A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.349 254089 chr22 46762902 46762902 G A rs78398495 CELSR1 Synonymous SNV A2731A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.11 254090 chr22 46762988 46762988 C T rs75983687 CELSR1 Nonsynonymous SNV V2703M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 254091 chr22 46776747 46776747 G A rs113616457 CELSR1 Synonymous SNV F2398F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.9 254092 chr19 18561759 18561759 G A rs146393769 ELL Synonymous SNV I331I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.51 254093 chr1 75039091 75039091 G A rs61731318 ERICH3 Nonsynonymous SNV T768I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.97 254094 chr1 7700561 7700561 G A rs192113113 CAMTA1 Synonymous SNV K174K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 254095 chr1 79093951 79093951 G A rs200570011 IFI44L Synonymous SNV S117S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.976 254096 chr1 86524843 86524843 A - COL24A1 F589Lfs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 254097 chr7 134849696 134849696 T C rs867512582 TMEM140 Nonsynonymous SNV M168T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 254098 chr19 2876090 2876090 G A rs144545156 ZNF556 0.002 0 0 2 2 0 0.005 0 0 0 0 0 3.263 254099 chr1 92546227 92546228 GC - BTBD8 R34Pfs*48 0 0 0.003 0 0 0 0 1 0 0 0 0 254100 chr20 10603726 10603726 G T rs999155143 SLX4IP Nonsynonymous SNV G309V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 254101 chr19 1800007 1800007 C G rs747349506 ATP8B3 Synonymous SNV T450T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 254102 chr3 185191309 185191309 C A rs922981952 MAP3K13 Nonsynonymous SNV D523E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 254103 chr3 186572265 186572265 G A rs201645109 ADIPOQ Synonymous SNV K169K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 254104 chr5 80641770 80641770 C T rs375702677 ACOT12 Nonsynonymous SNV R236Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 254105 chr1 2436455 2436455 C T rs748068324 PLCH2 Nonsynonymous SNV R1352W 0 0 0 1 0 0 0.003 0 0 0 0 0 16.3 254106 chr5 95158235 95158235 T C GLRX Synonymous SNV E44E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.13 254107 chr20 20392744 20392744 G A rs199791929 RALGAPA2 Synonymous SNV R1848R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 254108 chr20 21376746 21376746 C A NKX2-4 Nonsynonymous SNV G290C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 254109 chr19 4512930 4512930 C T rs775923942 PLIN4 Nonsynonymous SNV A348T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 254110 chr3 20043340 20043340 A G PP2D1 Nonsynonymous SNV L91P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 254111 chr20 30729350 30729350 A G rs751269972 TM9SF4 Nonsynonymous SNV M77V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 254112 chr19 6411886 6411886 C T rs754928159 LOC390877 Nonsynonymous SNV P108L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.236 254113 chr20 3297396 3297396 C A C20orf194 Nonsynonymous SNV A505S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 254114 chr19 42351842 42351842 G A rs781830059 DMRTC2 Nonsynonymous SNV R88H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 254115 chr2 16080332 16080332 G A MYCNOS 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 254116 chr20 35444351 35444351 G A rs370739115 SOGA1 Synonymous SNV S498S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.789 254117 chr2 166773969 166773969 T C rs146320075 TTC21B Nonsynonymous SNV H566R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.4 254118 chr20 39990277 39990277 A G EMILIN3 Synonymous SNV L644L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 254119 chr19 8319478 8319478 C T rs150398356 CERS4 Nonsynonymous SNV T90M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.223 254120 chr19 8381460 8381460 G C rs777750876 NDUFA7 Synonymous SNV R57R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.292 254121 chr7 33976935 33976935 C T rs142205105 BMPER Nonsynonymous SNV P85L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 254122 chr19 8564000 8564000 G A rs200185915 PRAM1 Nonsynonymous SNV P231L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.99 254123 chr19 8809019 8809019 G A rs146097745 ACTL9 Synonymous SNV S11S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.937 254124 chr7 37355534 37355534 C T rs148906394 ELMO1 Nonsynonymous SNV V37I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 254125 chr19 42461253 42461253 G A rs201642439 RABAC1 Nonsynonymous SNV A129V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 254126 chr20 45355506 45355506 C T rs772160405 SLC2A10 Nonsynonymous SNV T431I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 254127 chr7 4249735 4249735 C T rs137889213 SDK1 Nonsynonymous SNV A314V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.05 254128 chr7 44611162 44611162 C G DDX56 Synonymous SNV R273R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.744 254129 chr20 49225218 49225218 C T rs201982959 RIPOR3 Nonsynonymous SNV D248N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.23 254130 chr19 9033707 9033707 G T rs768891639 MUC16 Nonsynonymous SNV T12077N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 254131 chr2 179598113 179598113 C A rs72648934 TTN Nonsynonymous SNV A4059S 0.001 0 0 0 1 0 0 0 0 0 0 0 21 254132 chr3 48617772 48617772 G A rs144700737 COL7A1 Synonymous SNV S1686S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.54 254133 chr2 182389949 182389949 A G rs199949268 ITGA4 Nonsynonymous SNV D757G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 254134 chr3 49459835 49459835 C T rs745598809 AMT Nonsynonymous SNV A17T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.679 254135 chr20 58587655 58587655 G A rs767327055 CDH26 Nonsynonymous SNV C82Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.625 254136 chr1 39339120 39339120 G A rs41270779 LOC105378663 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.84 254137 chr7 50444412 50444412 C T rs185632810 IKZF1 Synonymous SNV N114N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.63 254138 chr7 50514092 50514092 T C FIGNL1 Synonymous SNV A298A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.247 254139 chr3 49846422 49846422 A G rs761075383 UBA7 Synonymous SNV A778A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.869 254140 chr19 10571759 10571759 A G rs202184347 PDE4A Nonsynonymous SNV N243S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.5 254141 chr3 49949401 49949401 G A rs149740587 MON1A Synonymous SNV Y154Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.786 254142 chr19 11094941 11094941 C T rs148970517 SMARCA4 Synonymous SNV S38S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.59 254143 chr20 60905820 60905820 G A rs151050051 LAMA5 Synonymous SNV P1277P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.38 254144 chr19 47778546 47778558 CCGAGCCGCCAGA - rs914332018 INAFM1 P124Hfs*93 0 0 0 1 0 0 0.003 0 0 0 0 0 254145 chr7 56022760 56022760 A G rs145162978 MRPS17 Synonymous SNV P94P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.641 254146 chr19 12126911 12126911 A G ZNF433 Synonymous SNV N257N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.946 254147 chr1 43166614 43166614 A G rs769510306 YBX1 Synonymous SNV K301K 0 0 0 1 0 0 0.003 0 0 0 0 0 2.889 254148 chr1 43205576 43205576 G A rs776635994 CLDN19 Synonymous SNV S53S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.5 254149 chr6 130762082 130762082 C T rs149308469 TMEM200A Nonsynonymous SNV T172M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.8 254150 chr19 12881811 12881811 C T rs200425388 HOOK2 Synonymous SNV R279R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.61 254151 chr7 6560271 6560271 G A rs752949849 GRID2IP Synonymous SNV H402H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.927 254152 chr20 62038072 62038072 C T rs147274045 KCNQ2 Synonymous SNV P820P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 6.953 254153 chr3 53263306 53263306 G A rs570396609 TKT Synonymous SNV G418G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.96 254154 chr19 49377793 49377793 C G rs144400267 PPP1R15A Nonsynonymous SNV R435G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.52 254155 chr7 75659827 75659827 A C STYXL1 Synonymous SNV L5L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 254156 chr1 47037747 47037747 G C MKNK1 Nonsynonymous SNV L149V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 254157 chr3 58520731 58520731 G A rs142584671 ACOX2 Nonsynonymous SNV R35W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 29 254158 chr19 50308934 50308934 C G AP2A1 Nonsynonymous SNV Q829E 0 0 0 1 0 0 0.003 0 0 0 0 0 23 254159 chr7 82764800 82764800 G A rs200359990 PCLO Nonsynonymous SNV A689V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.214 254160 chr19 50412171 50412171 C T rs370852613 NUP62 Synonymous SNV A298A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 14.06 254161 chr2 207621757 207621757 T C rs201485898 MDH1B Nonsynonymous SNV Y93C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 254162 chr21 31654819 31654819 G A rs377041539 KRTAP24-1 Synonymous SNV T144T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.16 254163 chr6 152779932 152779932 C T rs191723029 SYNE1 Nonsynonymous SNV R850H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 15.02 254164 chr2 209106769 209106769 A G IDH1 Nonsynonymous SNV W267R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 254165 chr7 92206490 92206490 C T rs200754940 FAM133B Nonsynonymous SNV R121Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 254166 chr2 21365523 21365523 A G rs767095462 TDRD15 Synonymous SNV Q1728Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 254167 chr19 52568609 52568609 G A ZNF841 Synonymous SNV N726N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.784 254168 chr8 10465185 10465185 G A RP1L1 Synonymous SNV A2141A 0 0.005 0 0 0 2 0 0 0 0 0 0 2.569 254169 chr19 21719607 21719607 A T ZNF429 Nonsynonymous SNV H187L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 254170 chr19 23040415 23040415 C T rs12977816 ZNF723 Nonsynonymous SNV S241F 0 0.003 0 0 0 1 0 0 0 0 0 0 2.048 254171 chr8 11666224 11666224 - TCCCAC FDFT1 S77_C78insHS 0 0.003 0 0 0 1 0 0 0 0 0 0 254172 chr8 11710956 11710956 T G rs762550595 CTSB Nonsynonymous SNV Q3P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.809 254173 chr21 47685251 47685251 G A rs776462927 MCM3AP Nonsynonymous SNV P1073L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 254174 chr1 85564236 85564236 G A rs374225786 WDR63 Synonymous SNV E419E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.302 254175 chr1 85624470 85624470 C T rs200644067 SYDE2 Nonsynonymous SNV R1183H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 254176 chr8 125115396 125115396 A C FER1L6 Nonsynonymous SNV E1712A 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 254177 chr8 126015518 126015518 C T SQLE Nonsynonymous SNV A131V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 254178 chr2 228884686 228884686 G C rs61752226 SPHKAP Nonsynonymous SNV A295G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 254179 chr19 36134420 36134420 C G rs371063485 ETV2 Synonymous SNV P67P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.03 254180 chr19 36236285 36236285 T C rs777354687 U2AF1L4 Nonsynonymous SNV E3G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 254181 chr4 147561375 147561375 G C rs200695260 POU4F2 Synonymous SNV T215T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.427 254182 chr4 155156180 155156180 T C rs765745454 DCHS2 Synonymous SNV S3208S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.416 254183 chr22 24236786 24236786 C T rs775404610 MIF-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.798 254184 chr22 24236937 24236937 T C rs762555990 MIF-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.971 254185 chr19 38800074 38800074 C T rs141251013 YIF1B Nonsynonymous SNV A75T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.97 254186 chr19 40196548 40196548 A G rs140242272 LGALS14 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.429 254187 chr19 40719761 40719761 G A rs781061859 MAP3K10 Synonymous SNV A725A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.919 254188 chr4 17841797 17841797 C G NCAPG Nonsynonymous SNV A911G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.531 254189 chr2 24261892 24261892 C T rs375594658 WDCP Nonsynonymous SNV R158H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 254190 chr19 6586208 6586208 G A rs143146735 CD70 Synonymous SNV P135P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.306 254191 chr22 36710237 36710237 C T MYH9 Nonsynonymous SNV D503N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 254192 chr2 26204102 26204102 G A rs1040832462 KIF3C Nonsynonymous SNV R229C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 254193 chr22 38046429 38046429 G A rs567743215 LOC101927051 0 0 0.01 0 0 0 0 3 0 0 0 0 5.824 254194 chr8 17532760 17532760 C A MTUS1 Nonsynonymous SNV R19L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 254195 chr22 38897266 38897266 C T rs150253069 DDX17 Nonsynonymous SNV G103S 0 0 0.007 0 0 0 0 2 0 0 0 0 26.3 254196 chr8 17871482 17871482 C T rs375376069 PCM1 Nonsynonymous SNV R1778C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 254197 chr22 41077903 41077903 G A rs200428580 MCHR1 Nonsynonymous SNV E414K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 254198 chr6 87970726 87970726 A C rs770797718 ZNF292 Nonsynonymous SNV D2460A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 254199 chr8 2088723 2088723 C T rs199969056 MYOM2 Nonsynonymous SNV P1293L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 254200 chr19 45476438 45476438 C T CLPTM1 Nonsynonymous SNV R80C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 254201 chr20 33578570 33578570 G A rs775952931 MYH7B Synonymous SNV L711L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.41 254202 chr8 22370894 22370894 C T rs199697260 PPP3CC Nonsynonymous SNV T240I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 254203 chr2 43970018 43970018 C T rs774314050 PLEKHH2 Synonymous SNV P1120P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 254204 chr8 30585169 30585169 C T rs936468581 GSR Nonsynonymous SNV V62M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 254205 chr22 50956598 50956598 C T NCAPH2 Synonymous SNV F179F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 254206 chr8 30703809 30703809 T C rs755404130 TEX15 Nonsynonymous SNV K1292E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 254207 chr8 30969298 30969298 A G rs372016270 WRN Synonymous SNV P752P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.134 254208 chr8 3263652 3263652 G C CSMD1 Nonsynonymous SNV F721L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 254209 chr2 101009866 101009866 T G rs373261971 CHST10 Synonymous SNV S304S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.421 254210 chr7 100160275 100160275 - GCGGCA rs752610649 AGFG2 S355_S356insGS 0 0.003 0 0 0 1 0 0 0 0 0 0 254211 chr8 42128966 42128966 T C rs565023239 IKBKB Synonymous SNV P26P 0 0.005 0 0 0 2 0 0 0 0 0 0 7.462 254212 chr2 72360268 72360268 G A rs144968323 CYP26B1 Nonsynonymous SNV R269C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 254213 chr8 66620310 66620310 C G MTFR1 Nonsynonymous SNV H333D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.066 254214 chr8 6681250 6681250 C - XKR5 Stop gain V144* 0 0.003 0 0 0 1 0 0 0 0 0 0 254215 chr8 77620109 77620109 G C rs371959933 ZFHX4 Synonymous SNV L973L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.799 254216 chr20 39831596 39831596 C T rs368356949 ZHX3 Nonsynonymous SNV R654Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 254217 chr2 131671572 131671572 G T rs181363725 ARHGEF4 Nonsynonymous SNV G18V 0 0 0.007 0 0 0 0 2 0 0 0 0 6.122 254218 chr2 144903273 144903273 G A rs151195128 GTDC1 Synonymous SNV T71T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 254219 chr8 95718165 95718165 G A ESRP1 Nonsynonymous SNV V658I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 254220 chr2 86831706 86831706 G A rs138890703 RNF103 Nonsynonymous SNV R440C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 254221 chr2 88874162 88874162 G A LOC101928371 0.001 0 0 0 1 0 0 0 0 0 0 0 6.23 254222 chr9 100919808 100919808 G A rs137868323 CORO2A Synonymous SNV P45P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.01 254223 chr7 117243828 117243828 T C rs1800110 CFTR Nonsynonymous SNV L967S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 254224 chr2 128934434 128934434 G A rs780702614 UGGT1 Nonsynonymous SNV V1196I 0 0 0 2 0 0 0.005 0 0 0 0 0 18.8 254225 chr2 177494955 177494955 C G rs779994210 LINC01116 0 0 0.003 0 0 0 0 1 0 0 0 0 7.422 254226 chr9 116838941 116838941 C T rs771092730 AMBP Nonsynonymous SNV S66N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 254227 chr9 116855775 116855775 C T rs372317733 KIF12 Nonsynonymous SNV R330H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.52 254228 chr5 107716997 107717005 GGCGGCAGC - rs750747353 FBXL17 A130_A132del 0.001 0 0 0 1 0 0 0 0 0 0 0 254229 chr2 141457824 141457824 A G LRP1B Nonsynonymous SNV V2265A 0 0 0 2 0 0 0.005 0 0 0 0 0 17.73 254230 chr9 117808952 117808952 G A rs543240444 TNC Nonsynonymous SNV P1621L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 254231 chr9 123280883 123280883 G A CDK5RAP2 Nonsynonymous SNV A378V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 254232 chr7 141921707 141921707 T G MGAM2 Nonsynonymous SNV Y2466D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.437 254233 chr7 138441202 138441202 C T rs767130776 ATP6V0A4 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 254234 chr9 125145811 125145811 G A rs144210627 PTGS1 Synonymous SNV P214P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.118 254235 chr9 127083776 127083776 G A rs186179243 NEK6 Synonymous SNV S129S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.5 254236 chr21 35987126 35987126 T C rs528556911 RCAN1 Nonsynonymous SNV Q62R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.2 254237 chr2 202978290 202978290 G A rs187519683 KIAA2012-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.888 254238 chr1 158532662 158532662 G A rs970130847 OR6P1 Synonymous SNV L245L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.862 254239 chr21 47404243 47404245 GGT - COL6A1 V97del 0 0 0 1 0 0 0.003 0 0 0 0 0 254240 chr7 156801724 156801724 C G MNX1 Nonsynonymous SNV G8A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.739 254241 chr20 259881 259881 T C rs947621657 C20orf96 Nonsynonymous SNV I132V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 254242 chr1 159799913 159799913 A - rs774238879 SLAMF8 N100Tfs*5 0 0 0 2 0 0 0.005 0 0 0 0 0 254243 chr7 151716792 151716792 G A rs149825214 GALNTL5 Nonsynonymous SNV R413H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 254244 chr9 135221697 135221697 A G rs748582841 SETX Synonymous SNV P113P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.965 254245 chr9 136633582 136633582 C T rs745901764 VAV2 Synonymous SNV K818K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.51 254246 chr21 45680715 45680715 - ATAAGATCTGGAAAGGAAG rs767496460 DNMT3L Frameshift insertion A39Ffs*9 0.003 0 0 1 3 0 0.003 0 0 0 0 0 254247 chr20 4158003 4158003 G T rs141615452 SMOX Nonsynonymous SNV A72S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.62 254248 chr21 46234006 46234006 G T SUMO3 Nonsynonymous SNV T12K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 254249 chr9 139110984 139110984 G A rs546723008 QSOX2 Nonsynonymous SNV S283L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 254250 chr1 167805735 167805735 C T rs202210889 ADCY10 Nonsynonymous SNV V888I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 254251 chr21 46308745 46308745 G A rs373963624 ITGB2 Nonsynonymous SNV P648L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.009 254252 chr20 4848512 4848512 G A rs72552221 SLC23A2 Synonymous SNV F420F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.42 254253 chr2 220439905 220439905 C T rs750272026 INHA Nonsynonymous SNV P253L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 254254 chr7 2473430 2473430 C T rs1040697422 CHST12 Synonymous SNV L386L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.23 254255 chr9 139306491 139306491 C T rs760602848 PMPCA Synonymous SNV A38A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 254256 chr21 47665023 47665023 C T rs141495802 MCM3AP Nonsynonymous SNV G1579E 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 254257 chr20 7990898 7990898 C T rs191545441 TMX4 Nonsynonymous SNV G81S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 254258 chr2 231978491 231978491 G A rs181580625 HTR2B Nonsynonymous SNV R169W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 254259 chr5 16177955 16177955 T C rs759770930 MARCHF11 Synonymous SNV S191S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.017 254260 chr2 234727299 234727299 A G rs1001792871 MROH2A Synonymous SNV A1029A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.208 254261 chr5 176395618 176395618 A G rs150697112 UIMC1 Nonsynonymous SNV S380P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 0.072 254262 chr9 26996430 26996430 A C rs35763860 LRRC19 Synonymous SNV P221P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.065 254263 chr2 238657877 238657877 G A rs151302205 LRRFIP1 Synonymous SNV T75T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.1 254264 chr9 35562980 35562980 C T rs374382044 FAM166B Synonymous SNV G128G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.567 254265 chr9 35735199 35735199 G A rs139219438 CREB3 Nonsynonymous SNV G177S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 254266 chr9 36589545 36589545 C T rs544701960 MELK Nonsynonymous SNV R21W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 254267 chr1 186276232 186276232 C A rs138817749 PRG4 Nonsynonymous SNV P327T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.079 254268 chr9 5233661 5233661 G T INSL4 Synonymous SNV V68V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.923 254269 chr2 27716876 27716876 T C FNDC4 Synonymous SNV G125G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.887 254270 chr9 90502470 90502470 G A rs146606700 SPATA31E1 Nonsynonymous SNV G1023E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.4 254271 chr20 57767661 57767661 G A rs752983652 ZNF831 Synonymous SNV T529T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.134 254272 chr20 60701405 60701405 C T rs571955948 LSM14B Nonsynonymous SNV P113S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.89 254273 chr2 61404809 61404809 C T rs974316703 AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.871 254274 chr7 92062522 92062522 C A rs149899326 TMBIM7P 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.054 254275 chr2 69240651 69240651 G A rs28365986 ANTXR1 Nonsynonymous SNV R7K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.934 254276 chr7 92764596 92764596 T C rs761428673 SAMD9L Nonsynonymous SNV N230S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 254277 chr20 61981303 61981303 C T rs121912280 CHRNA4 Nonsynonymous SNV R487Q 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 254278 chr20 62038528 62038528 C T rs776224647 KCNQ2 Synonymous SNV T668T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.74 254279 chr2 71062837 71062837 G A rs202094824 CD207 Stop gain R24X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 254280 chrX 152585420 152585420 C A PNMA6F Nonsynonymous SNV R238L 0 0.005 0 0 0 2 0 0 0 1 0 0 5.949 254281 chrX 153036439 153036439 A G rs140681169 PLXNB3 Nonsynonymous SNV H719R 0 0.005 0 0 0 2 0 0 0 1 0 0 Likely benign 8.978 254282 chr2 85360978 85360978 G A rs377311786 TCF7L1 Synonymous SNV S57S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 254283 chr8 10468759 10468759 C T rs201968725 RP1L1 Nonsynonymous SNV R950H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.483 254284 chr3 47161886 47161886 C G rs373340813 SETD2 Nonsynonymous SNV D1370H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.9 254285 chr8 120103401 120103401 A C rs150828850 COLEC10 Nonsynonymous SNV E78D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.328 254286 chrX 29973913 29973913 C G rs140330609 IL1RAPL1 Synonymous SNV T689T 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign/Likely benign 0.282 254287 chr2 97428125 97428125 G A rs1014477517 CNNM4 Synonymous SNV E463E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.875 254288 chr2 114002048 114002048 G A rs772686587 PAX8 Synonymous SNV G115G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.93 254289 chrX 54784685 54784685 G A rs779503515 ITIH6 Synonymous SNV L608L 0 0.005 0 0 0 2 0 0 0 1 0 0 0.219 254290 chr3 50617641 50617641 C T rs187906978 HEMK1 Nonsynonymous SNV R321C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 254291 chr3 108568077 108568077 G T TRAT1 Nonsynonymous SNV M56I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.265 254292 chr21 42823102 42823102 C T rs149908360 MX1 Nonsynonymous SNV R481W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 254293 chr3 112991493 112991493 G A rs138989977 BOC Nonsynonymous SNV D302N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 17.36 254294 chr3 40231641 40231641 T C MYRIP Nonsynonymous SNV M264T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.458 254295 chr8 143399918 143399918 C T rs201878259 TSNARE1 Nonsynonymous SNV R105H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.08 254296 chr8 144297303 144297303 C T rs139851434 GPIHBP1 Synonymous SNV G155G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.08 254297 chr3 62259455 62259455 G A rs142191522 PTPRG Nonsynonymous SNV S1134N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 254298 chr3 122545771 122545771 A G SLC49A4 Nonsynonymous SNV M188V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 254299 chr3 123038532 123038532 A C rs751965085 ADCY5 Nonsynonymous SNV L399V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 254300 chr3 123453043 123453043 G T rs755451013 MYLK Nonsynonymous SNV T91N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.293 254301 chr3 12653531 12653531 C T rs761260730 RAF1 Nonsynonymous SNV D80N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 254302 chr3 129225331 129225331 G A rs765560540 IFT122 Synonymous SNV R799R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 254303 chr1 1341253 1341253 C G rs145728085 MRPL20 Nonsynonymous SNV R71P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 254304 chr8 145746737 145746737 A G LRRC14 Nonsynonymous SNV N453D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 254305 chr2 179594199 179594199 A G rs368427156 TTN Synonymous SNV F4984F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.77 254306 chr3 14174426 14174426 A G TMEM43 Nonsynonymous SNV K168R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 254307 chr3 14949171 14949171 A G rs201558906 FGD5 Nonsynonymous SNV I1097V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 20.3 254308 chr3 150128568 150128568 G A rs960004425 TSC22D2 Synonymous SNV Q477Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.479 254309 chr6 168708328 168708328 G A rs748726350 DACT2 Synonymous SNV D533D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.241 254310 chr6 168708761 168708761 C T rs777510724 DACT2 Nonsynonymous SNV R389H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 254311 chr3 151112543 151112543 C T rs775879977 MED12L Nonsynonymous SNV P1868L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 254312 chr2 190602532 190602532 A G ANKAR Nonsynonymous SNV T1183A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 254313 chr3 164785207 164785207 A G rs142447888 SI Nonsynonymous SNV S186P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Uncertain significance 1.808 254314 chr3 108406845 108406845 C T rs150802711 DZIP3 Nonsynonymous SNV R1058W 0 0 0 2 0 0 0.005 0 0 0 0 0 33 254315 chr2 202072894 202072894 C T rs748988477 CASP10 Nonsynonymous SNV H261Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.002 254316 chr22 38219533 38219533 A G rs149615034 GALR3 Synonymous SNV A40A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 254317 chr8 41575150 41575150 C T rs776721065 ANK1 Nonsynonymous SNV R426Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.4 254318 chr3 185783715 185783715 T C rs182651924 ETV5 Nonsynonymous SNV Y266C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 254319 chr3 186024727 186024727 T C rs370404584 DGKG Nonsynonymous SNV N36S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.66 254320 chr2 210737541 210737541 C A rs913889073 UNC80 Synonymous SNV R1229R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.72 254321 chr2 213872645 213872645 C A rs115182573 IKZF2 Synonymous SNV P265P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 254322 chr8 70667793 70667793 C T rs149362749 SLCO5A1 Nonsynonymous SNV R375Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25 254323 chr10 32872118 32872118 A C CCDC7 Synonymous SNV T537T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.027 254324 chr8 92350380 92350380 T G rs368908475 SLC26A7 Nonsynonymous SNV I266M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 254325 chr8 98991190 98991190 G A rs375963488 MATN2 Synonymous SNV Q345Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.557 254326 chr8 99028849 99028849 T C rs144603993 MATN2 Nonsynonymous SNV F511S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.47 254327 chr8 99045344 99045344 T C rs149724220 MATN2 Nonsynonymous SNV F845L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 254328 chr4 2934887 2934887 G A rs372645277 MFSD10 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.948 254329 chr9 100672587 100672587 G A rs140149354 TRMO Stop gain Q95X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 254330 chr3 3081975 3081975 G C rs17025200 CNTN4-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.113 254331 chr10 50902618 50902618 G A rs7069935 C10orf53 Synonymous SNV K84K 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 254332 chr9 104312906 104312906 G T rs189985748 RNF20 Nonsynonymous SNV V371L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 254333 chr3 33195279 33195279 T C rs777310181 SUSD5 Nonsynonymous SNV D282G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 254334 chr22 50753082 50753082 G C rs371364338 DENND6B Nonsynonymous SNV T310S 0 0.005 0 0 0 2 0 0 0 0 0 0 27.6 254335 chr22 50944215 50944215 G A rs140304820 LMF2 Synonymous SNV T243T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.985 254336 chr9 107535190 107535190 G A rs143630689 NIPSNAP3B 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25.5 254337 chr3 42732481 42732481 C A rs149980411 KLHL40 Nonsynonymous SNV L580I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 22.3 254338 chrX 30236744 30236744 G T rs151181148 MAGEB2 Nonsynonymous SNV R16L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 254339 chr3 4355483 4355483 A G rs6793896 SETMAR Nonsynonymous SNV Y353C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.114 254340 chrX 47308118 47308118 C T rs191255462 ZNF41 Nonsynonymous SNV G265R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.2 254341 chrX 48457309 48457309 C T WDR13 Synonymous SNV I82I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.78 254342 chr3 47284736 47284736 C T rs766235035 KIF9-AS1, KIF9 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.9 254343 chr3 48683544 48683544 A G rs763395284 CELSR3 Nonsynonymous SNV V2481A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 26.5 254344 chr3 49052470 49052470 T G rs753131535 WDR6 Nonsynonymous SNV S1013A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.051 254345 chr4 68619981 68619981 G T rs199916649 GNRHR Nonsynonymous SNV Q25K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.924 254346 chr3 180321065 180321065 G A TTC14 Nonsynonymous SNV C147Y 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 254347 chrX 71358641 71358641 G C rs149072223 NHSL2 Nonsynonymous SNV G415R 0.003 0.003 0 0 4 1 0 0 2 0 0 0 24.6 254348 chr9 119461405 119461405 G A rs772922696 TRIM32 Nonsynonymous SNV V462M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.73 254349 chr9 124521182 124521182 G A rs190940502 DAB2IP Synonymous SNV T50T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 254350 chr3 52802421 52802421 T C rs777829988 NEK4 Nonsynonymous SNV Q98R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.43 254351 chrX 103359368 103359368 G A rs782454647 ZCCHC18 Nonsynonymous SNV R189H 0.002 0.003 0 0 2 1 0 0 1 0 0 0 0.524 254352 chr7 100319586 100319586 C T rs201069425 EPO Nonsynonymous SNV T54M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 254353 chr3 186940916 186940916 T - rs1049848287 MASP1 E603Gfs*19 0.001 0 0 1 1 0 0.003 0 0 0 0 0 254354 chr3 68466563 68466563 C T rs529839655 TAFA1 Synonymous SNV C84C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.083 254355 chr3 69056927 69056927 A C rs773638158 EOGT Synonymous SNV A119A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.861 254356 chr3 69230750 69230750 G C rs752658505 FRMD4B Synonymous SNV S717S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.586 254357 chr4 954449 954449 G A rs201925522 DGKQ Nonsynonymous SNV R930W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 254358 chrX 153174929 153174929 G A rs782060275 ARHGAP4 Synonymous SNV P825P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.054 254359 chr4 100470419 100470419 G C TRMT10A Nonsynonymous SNV D282E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 254360 chr5 10282378 10282378 G A rs144041333 CMBL Synonymous SNV D163D 0.005 0.005 0 2 6 2 0.005 0 0 0 0 0 Likely benign 4.727 254361 chr4 108603257 108603257 G A PAPSS1 Nonsynonymous SNV P195S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 254362 chr4 109086254 109086254 G A rs61731789 LEF1 Synonymous SNV D93D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.154 254363 chr7 102045120 102045120 C T PRKRIP1 Nonsynonymous SNV R128W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 254364 chr7 106508630 106508630 G A rs756654814 PIK3CG Synonymous SNV P208P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.645 254365 chr11 103870898 103870898 C T rs761535160 PDGFD Synonymous SNV P70P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 254366 chr11 1083092 1083092 G A rs150895728 MUC2 Synonymous SNV S664S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.929 254367 chr4 140201259 140201259 G A rs28536098 MGARP Synonymous SNV P18P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.83 254368 chr5 137426669 137426669 G T WNT8A Synonymous SNV T339T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.477 254369 chr4 145656037 145656037 A T rs141923330 HHIP Nonsynonymous SNV R635S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 254370 chr9 14801769 14801769 C T rs79023327 FREM1 Nonsynonymous SNV R1192H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.2 254371 chr9 15695233 15695233 G T rs771672077 CCDC171 Nonsynonymous SNV A406S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.73 254372 chr5 139189078 139189078 G A rs746917815 PSD2 Nonsynonymous SNV R18H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.333 254373 chr5 139908470 139908470 C T rs553795223 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV T1980I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 254374 chr5 139931628 139931628 - GTT SRA1 V110delinsEL 0.001 0 0 0 1 0 0 0 0 0 0 0 254375 chr5 139931629 139931629 C G rs202193903 SRA1 Nonsynonymous SNV V110L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.99 254376 chr9 26110028 26110028 T C rs770868050 LOC100506422 Synonymous SNV F37F 0 0.003 0 0 0 1 0 0 0 0 0 0 3.593 254377 chr4 160243525 160243525 T C rs61758815 RAPGEF2 Synonymous SNV L133L 0 0 0.007 0 0 0 0 2 0 0 0 0 4.29 254378 chr9 2645734 2645734 G A rs200483246 VLDLR Synonymous SNV K450K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.92 254379 chr9 26892560 26892577 CGCTCCCGCAGCCCCCGG - rs537300337 CAAP1 A46_S51del 0 0.003 0 0 0 1 0 0 0 0 0 0 254380 chr9 2643293 2643293 C T rs148012674 VLDLR Synonymous SNV G153G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.24 254381 chr10 12940596 12940596 C T rs771479089 CCDC3 Synonymous SNV E211E 0 0.005 0 0 0 2 0 0 0 0 0 0 15.21 254382 chr5 140772980 140772980 G A PCDHGA8 Synonymous SNV L200L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.843 254383 chr11 119142561 119142561 C T rs587778162 CBL Nonsynonymous SNV A187V 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 27 254384 chr20 47444347 47444347 G A PREX1 Synonymous SNV C17C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.372 254385 chr4 186294220 186294220 T C rs370147340 LRP2BP Nonsynonymous SNV H198R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 254386 chr9 6550811 6550811 C T GLDC Nonsynonymous SNV G854D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 27.6 254387 chr9 72132038 72132038 T C APBA1 Nonsynonymous SNV E30G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 254388 chr4 25366079 25366079 G A ZCCHC4 Nonsynonymous SNV G405S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 254389 chr10 19981450 19981450 T C rs776553172 MALRD1 Nonsynonymous SNV L2094S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.88 254390 chr10 21804770 21804770 C G rs766114403 SKIDA1 Nonsynonymous SNV G661A 0 0.008 0 0 0 3 0 0 0 0 0 0 0.004 254391 chr4 3234934 3234934 G A rs369914566 HTT Synonymous SNV T2770T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.999 254392 chr4 38117437 38117437 A T rs751346200 TBC1D1 Synonymous SNV G888G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.232 254393 chr3 113517198 113517198 A C ATP6V1A Nonsynonymous SNV K467Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.81 254394 chr7 20682895 20682895 C T ABCB5 Stop gain Q135X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 254395 chr11 130343240 130343240 C T rs775776542 ADAMTS15 Nonsynonymous SNV R793W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 254396 chr10 35929557 35929557 G A rs201304613 FZD8 Synonymous SNV P267P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.575 254397 chr4 48088500 48088500 T G rs138473957 TXK Nonsynonymous SNV E313D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.03 254398 chr11 17546007 17546007 C T USH1C Synonymous SNV V250V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 254399 chr10 48390870 48390870 C T RBP3 Nonsynonymous SNV R3K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.101 254400 chrX 12735786 12735786 A G rs150450997 FRMPD4 Synonymous SNV A907A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 0.207 254401 chr11 17667118 17667118 G A rs565530639 OTOG Synonymous SNV E2835E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 254402 chr3 126194328 126194328 G A rs1044985068 ZXDC Synonymous SNV G127G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 254403 chr5 178556938 178556938 C T rs143770049 ADAMTS2 Nonsynonymous SNV V818I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 254404 chr4 68784750 68784750 G A rs149167929 TMPRSS11A Nonsynonymous SNV A298V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 254405 chr4 7062895 7062895 G A rs141369619 GRPEL1 Synonymous SNV D116D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.058 254406 chr11 2191083 2191083 G A rs775339040 TH Nonsynonymous SNV R37C 0 0.003 0 0 0 1 0 0 0 0 0 0 26 254407 chr5 32419959 32419959 T C rs759353105 ZFR Synonymous SNV P129P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.889 254408 chr3 13368730 13368730 C - NUP210 T1499Pfs*35 0 0.003 0 1 0 1 0.003 0 0 0 0 0 254409 chr10 61822969 61822969 A G rs374346074 ANK3 Synonymous SNV D686D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.183 254410 chr1 170115282 170115282 T A METTL11B Nonsynonymous SNV S12T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 254411 chr1 170115285 170115294 CGCTGGCAGA - METTL11B W14Pfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 254412 chr1 170115294 170115294 - TTT METTL11B Stop gain K16_S283delinsI 0.001 0 0 0 1 0 0 0 0 0 0 0 254413 chr4 7776297 7776297 G A rs1006940610 AFAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.32 254414 chr5 36971044 36971044 C T rs562557528 NIPBL Nonsynonymous SNV P226L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 254415 chr4 81188161 81188161 C G rs373927639 FGF5 Synonymous SNV S61S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 254416 chr4 81207618 81207618 G A rs201557946 FGF5 Nonsynonymous SNV R57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 254417 chr5 41382203 41382203 A G PLCXD3 Synonymous SNV V179V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.686 254418 chr11 4389457 4389457 C T OR52B4 Synonymous SNV Q23Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 2.264 254419 chr4 90035167 90035167 G T rs780234482 TIGD2 Nonsynonymous SNV D348Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 254420 chr5 639244 639244 C T rs770068105 CEP72 Nonsynonymous SNV T416M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 254421 chr5 109155489 109155489 C T rs145978775 MAN2A1 Synonymous SNV S743S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 254422 chr5 111755952 111755952 C A rs947318582 EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 9.363 254423 chr5 76733172 76733172 G C WDR41 Nonsynonymous SNV P361R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 254424 chr10 95994009 95994009 C T rs745465546 PLCE1 Synonymous SNV D410D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.619 254425 chr5 130797427 130797427 C G rs777875874 RAPGEF6 Nonsynonymous SNV K945N 0 0 0.003 0 0 0 0 1 0 0 0 0 27 254426 chr3 183995069 183995069 C G rs56132089 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV A69G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 254427 chr5 132432976 132432976 G C rs181955709 HSPA4 Nonsynonymous SNV D643H 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 254428 chr10 99416621 99416621 A C PI4K2A Nonsynonymous SNV D271A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 254429 chr3 186505325 186505325 G A rs773652972 EIF4A2 Synonymous SNV R317R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.466 254430 chr5 139940337 139940337 T C rs149049800 APBB3 Nonsynonymous SNV M314V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 254431 chr22 29533495 29533495 C T rs201849592 KREMEN1 Nonsynonymous SNV S266L 0 0 0 1 0 0 0.003 0 0 0 0 0 26 254432 chr22 29754807 29754807 C T rs773851419 AP1B1 Nonsynonymous SNV V145M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 254433 chr6 10587110 10587110 T C rs752028990 GCNT2 Synonymous SNV P296P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 254434 chr5 140751594 140751594 A G rs764132695 PCDHGB3 Nonsynonymous SNV N545D 0 0 0.003 0 0 0 0 1 0 0 0 0 23 254435 chr10 124357494 124357494 A G rs3980980 DMBT1 Synonymous SNV T475T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.006 254436 chr5 145508562 145508562 A G LARS Synonymous SNV Y870Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 254437 chr10 125426022 125426022 C T rs150592353 GPR26 Synonymous SNV S33S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.39 254438 chr10 125447511 125447511 G A rs62640899 GPR26 Synonymous SNV A283A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.35 254439 chr10 125780758 125780758 G T rs75589650 CHST15 Nonsynonymous SNV P454H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.83 254440 chr5 59189378 59189378 G A PDE4D Synonymous SNV A24A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.993 254441 chr5 67569289 67569289 G C rs539374043 PIK3R1 Nonsynonymous SNV V136L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.651 254442 chr8 133141790 133141790 G A rs138852641 KCNQ3 Nonsynonymous SNV R660C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.9 254443 chr11 108040660 108040660 G C NPAT Nonsynonymous SNV R966G 0 0.005 0 0 0 2 0 0 0 0 0 0 21.8 254444 chr10 135009203 135009203 G A rs149749895 KNDC1 Nonsynonymous SNV A538T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 23.7 254445 chr8 139701173 139701173 T G rs139003178 COL22A1 Nonsynonymous SNV E950A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 254446 chr6 138638451 138638451 G A rs140915335 ARFGEF3 Nonsynonymous SNV R1470Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 254447 chr5 159680604 159680604 G C rs756373783 CCNJL Synonymous SNV A315A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.924 254448 chr10 17199702 17199702 T A rs762577958 TRDMT1 Nonsynonymous SNV N128Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.257 254449 chr10 17271883 17271883 G A rs779864520 VIM Nonsynonymous SNV M154I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 254450 chr5 162053 162053 C T rs145013757 PLEKHG4B Synonymous SNV C881C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.831 254451 chr10 20357164 20357164 C T rs143842350 PLXDC2 Synonymous SNV T130T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 254452 chr11 119185430 119185430 T C MCAM Nonsynonymous SNV N144D 0 0.005 0 0 0 2 0 0 0 0 0 0 12.52 254453 chr5 180651202 180651202 G C rs373135410 TRIM41 Nonsynonymous SNV G68A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 254454 chr5 40798198 40798198 - A PRKAA1 Frameshift insertion T32Yfs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 254455 chr10 50833675 50833675 C T rs76570508 CHAT Synonymous SNV H185H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.11 254456 chr10 50954850 50954850 G A rs75974530 OGDHL Synonymous SNV S205S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.9 254457 chr5 60999831 60999831 C T rs76894732 C5orf64 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.023 254458 chr11 134179649 134179649 C T rs368492101 GLB1L3 Nonsynonymous SNV T364I 0 0.005 0 0 0 2 0 0 0 0 0 0 26.3 254459 chr10 70728732 70728732 A G rs765856403 DDX21 Nonsynonymous SNV D296G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 254460 chr5 140475108 140475108 C G rs139275647 PCDHB2 Nonsynonymous SNV A245G 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 13.11 254461 chr11 6624676 6624676 G C rs11040935 RRP8 Synonymous SNV P19P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.635 254462 chr5 140769576 140769576 A G rs200734314 PCDHGB4 Nonsynonymous SNV I709V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.595 254463 chr5 7757697 7757697 A C rs138503341 ADCY2 Nonsynonymous SNV M698L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 254464 chr4 103225556 103225556 C A rs772112205 SLC39A8 Nonsynonymous SNV G186V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 254465 chr5 141044626 141044626 C T rs149211277 ARAP3 Nonsynonymous SNV R888Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 254466 chr6 36168562 36168562 G C BRPF3 Nonsynonymous SNV D155H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 254467 chr8 36780117 36780117 C T rs186727015 KCNU1 Synonymous SNV S902S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 254468 chr6 36689678 36689678 C A rs554352720 RAB44 Synonymous SNV L589L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.394 254469 chr6 36689679 36689679 C G rs566132086 RAB44 Nonsynonymous SNV Q590E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.003 254470 chr8 39009044 39009044 G A rs200716726 ADAM32 Nonsynonymous SNV D175N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 254471 chr6 37611592 37611592 T C MDGA1 Synonymous SNV K843K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.194 254472 chr6 38084406 38084406 G A rs760769744 ZFAND3 Synonymous SNV T140T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.25 254473 chr5 147211105 147211105 C G rs35877720 SPINK1 Nonsynonymous SNV L12F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 22.9 254474 chr5 147505300 147505300 A G rs114635730 SPINK5 Synonymous SNV E918E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.243 254475 chr10 89552414 89552414 A G ATAD1 Synonymous SNV H87H 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 254476 chr5 147505410 147505410 T C rs115820034 SPINK5 Nonsynonymous SNV V955A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 21.7 254477 chr5 147553829 147553829 C T rs79779038 SPINK14 Synonymous SNV S48S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.458 254478 chr11 299405 299405 G A rs201497459 IFITM5 Nonsynonymous SNV P29L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.79 254479 chr11 3023798 3023798 C G rs776944760 CARS1 Nonsynonymous SNV E667D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 254480 chr6 10529879 10529879 T A GCNT2 Synonymous SNV I245I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.44 254481 chr6 10876126 10876126 C T rs760441144 GCM2 Nonsynonymous SNV E194K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 254482 chr6 109954521 109954521 C T rs777209630 AK9 Synonymous SNV E313E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.995 254483 chr6 46593222 46593222 G A rs149313145 CYP39A1 Synonymous SNV Y116Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.257 254484 chr6 46610031 46610031 C T rs377185387 CYP39A1 Nonsynonymous SNV G61E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 30 254485 chr6 111694918 111694918 G A REV3L Nonsynonymous SNV T1547I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 254486 chr10 99093883 99093883 G C rs754369707 FRAT2 Synonymous SNV L149L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.983 254487 chr2 179424880 179424880 A G rs397517733 TTN Nonsynonymous SNV I19595T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 19.4 254488 chr2 179584175 179584175 C T rs772430122 TTN Nonsynonymous SNV R6737Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 254489 chr11 46749624 46749624 C T rs768384383 F2 Synonymous SNV T403T 0 0.005 0 0 0 2 0 0 0 0 0 0 15.04 254490 chr6 125230628 125230628 A T rs1005250718 RNF217-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.252 254491 chr11 47269232 47269232 C T rs367900188 ACP2 Nonsynonymous SNV R54H 0 0.005 0 0 0 2 0 0 0 0 0 0 34 254492 chr6 656647 656647 G C rs139552685 HUS1B Nonsynonymous SNV L100V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 254493 chr6 132789613 132789613 G A rs148495140 STX7 Nonsynonymous SNV A180V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 254494 chr11 105732835 105732835 T G rs114323282 GRIA4 Nonsynonymous SNV D191E 0.004 0 0 0 5 0 0 0 0 0 0 0 8.801 254495 chr6 150719314 150719314 G A rs36063028 IYD Nonsynonymous SNV E189K 0.002 0 0.007 0 2 0 0 2 1 0 0 0 Likely benign 16.31 254496 chr12 100444027 100444027 T G rs1020638314 UHRF1BP1L Nonsynonymous SNV I1213L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 254497 chr11 111411601 111411601 G A LAYN Synonymous SNV L11L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.49 254498 chr11 102647442 102647442 T C rs199916865 MMP10 Nonsynonymous SNV N230D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 254499 chr11 103024202 103024202 G A DYNC2H1 Synonymous SNV E1089E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.478 254500 chr11 106647209 106647209 C G rs267602682 GUCY1A2 Nonsynonymous SNV E598Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 254501 chr11 108040768 108040768 A G rs752251726 NPAT Nonsynonymous SNV S930P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 254502 chr9 130075743 130075743 G A rs751694009 GARNL3 Nonsynonymous SNV D115N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 254503 chr6 166572039 166572039 C T rs77703807 TBXT Nonsynonymous SNV V300I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.179 254504 chr12 112036781 112036791 GTTGCTGCTGC - rs752859349 ATXN2 Q17Afs*69 0 0.003 0 0 0 1 0 0 0 0 0 0 254505 chr6 168462534 168462534 C T rs148800203 FRMD1 Nonsynonymous SNV R265H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 254506 chr6 170060828 170060828 C A rs772785976 WDR27 Stop gain G163X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 254507 chr11 124189609 124189609 C T rs776771740 OR8D2 Nonsynonymous SNV R162H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.86 254508 chr11 124793257 124793257 G A rs147015297 HEPACAM Nonsynonymous SNV A261V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 28.9 254509 chr7 107569559 107569559 T C rs776511343 LAMB1 Nonsynonymous SNV I1613V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 254510 chr12 124824869 124824869 G A rs61755988 NCOR2 Nonsynonymous SNV T1810M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 24.3 254511 chr12 124832440 124832440 T A NCOR2 Nonsynonymous SNV I1325F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 254512 chr2 228560637 228560637 C T rs769558150 SLC19A3 Synonymous SNV K380K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.8 254513 chr11 130750635 130750635 A G rs372192550 SNX19 Synonymous SNV L220L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.783 254514 chr6 41704735 41704735 C A rs146485859 PGC Nonsynonymous SNV G341V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 22.9 254515 chr7 128470763 128470763 G A FLNC Synonymous SNV T24T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 254516 chr7 128587408 128587408 G A rs779451006 IRF5 Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.343 254517 chr11 1855844 1855844 T A rs765351853 SYT8 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.83 254518 chr11 129725720 129725720 G A rs549481514 TMEM45B Nonsynonymous SNV R168Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 254519 chr9 140441832 140441832 A G rs763389498 PNPLA7 Nonsynonymous SNV V16A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.49 254520 chr11 133790805 133790805 C A rs771896150 IGSF9B Nonsynonymous SNV G939C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 254521 chr11 20486086 20486086 G A rs753397498 PRMT3 Nonsynonymous SNV M385I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 254522 chr6 52141119 52141119 G A rs151143995 MCM3 Nonsynonymous SNV R395W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 254523 chr12 22797146 22797146 T A rs762379255 ETNK1 Nonsynonymous SNV L140I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.247 254524 chr12 29629178 29629178 C T OVCH1 Nonsynonymous SNV V513I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.886 254525 chr2 25678308 25678308 C T rs199516072 DTNB Nonsynonymous SNV A175T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 254526 chr9 35375183 35375183 T G rs141942832 UNC13B Synonymous SNV L81L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.299 254527 chr11 32413561 32413561 G A rs374799820 WT1 Synonymous SNV S72S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.87 254528 chr9 4722574 4722574 T A rs141767297 AK3 Nonsynonymous SNV D68V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 254529 chr7 148716124 148716124 C T rs112788858 PDIA4 Synonymous SNV K145K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 254530 chr2 30863183 30863183 C T rs142697372 LCLAT1 Synonymous SNV L277L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.234 254531 chr9 77411695 77411695 C T TRPM6 Nonsynonymous SNV D780N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 254532 chr9 8492977 8492977 G A rs142228841 PTPRD Synonymous SNV D784D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 254533 chr6 90052127 90052127 G A rs368433561 UBE2J1 Synonymous SNV S51S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 254534 chr6 90573481 90573481 A G rs777155128 CASP8AP2 Nonsynonymous SNV M685V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.781 254535 chr7 158937413 158937413 G A rs1050336654 VIPR2 Synonymous SNV P17P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 254536 chr2 63175952 63175952 T A rs144376041 EHBP1 Synonymous SNV A657A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.808 254537 chr2 63540407 63540407 G A rs185980830 WDPCP Synonymous SNV D437D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.56 254538 chr11 68483376 68483376 A G rs148395296 TESMIN Nonsynonymous SNV C317R 0 0.005 0 0 0 2 0 0 0 0 0 0 25.8 254539 chr2 72362438 72362438 G A rs139916221 CYP26B1 Synonymous SNV N105N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.36 254540 chr7 100649851 100649851 T C rs181322470 MUC12 Nonsynonymous SNV V5019A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.455 254541 chr7 103018204 103018204 C T rs148538056 SLC26A5 Nonsynonymous SNV E578K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.86 254542 chr7 107674737 107674737 T G LAMB4 Nonsynonymous SNV Q1578H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 254543 chrX 3019164 3019164 G A rs78126806 ARSF Nonsynonymous SNV R335K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 254544 chr7 44715726 44715726 G C rs377711995 OGDH Nonsynonymous SNV C395S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.45 254545 chr11 78154760 78154760 A G rs143460012 NARS2 Synonymous SNV F176F 0 0.005 0 0 0 2 0 0 0 0 0 0 16.05 254546 chr5 149631315 149631315 C T CAMK2A Nonsynonymous SNV D231N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 254547 chr11 801085 801085 A G rs148295308 PIDD1 Nonsynonymous SNV Y556H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.145 254548 chrX 54359786 54359786 T C rs781940880 WNK3 Synonymous SNV E107E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 254549 chr11 902966 902966 G T CHID1 Nonsynonymous SNV T86N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 254550 chr11 92913962 92913962 C T rs762713553 SLC36A4 0 0.005 0 0 0 2 0 0 0 0 0 0 26.5 254551 chr11 93456258 93456260 AAG - CEP295 E2003del 0 0.005 0 0 0 2 0 0 0 0 0 0 254552 chr11 56431246 56431246 G A rs752498318 OR5AR1 Nonsynonymous SNV V29M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 254553 chr7 75186104 75186104 C T HIP1 Synonymous SNV Q531Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 254554 chr5 169141144 169141144 G A DOCK2 Nonsynonymous SNV G591E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 254555 chr5 172660099 172660099 C T rs201582515 NKX2-5 Nonsynonymous SNV V150I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 29.1 254556 chr7 155150644 155150644 G - BLACE 0 0 0.003 0 0 0 0 1 0 0 0 0 254557 chr7 157178298 157178298 A G rs747995580 DNAJB6 Synonymous SNV T228T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.222 254558 chr12 109201414 109201414 C T rs148157722 SSH1 Synonymous SNV V253V 0 0.005 0 0 0 2 0 0 0 0 0 0 6.972 254559 chr7 92731302 92731302 G - rs779349886 SAMD9 T1370Ifs*4 0.001 0 0 1 1 0 0.003 0 0 0 0 0 254560 chr5 178579176 178579176 G C rs766855796 ADAMTS2 Synonymous SNV P532P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.39 254561 chr5 179201203 179201203 C T rs773131489 MAML1 Synonymous SNV S792S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.52 254562 chr11 59189779 59189779 G T rs200297951 OR5A2 Synonymous SNV L216L 0.003 0 0 2 4 0 0.005 0 1 0 0 0 0.862 254563 chr7 20199636 20199636 G A rs776141269 MACC1 Synonymous SNV S116S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.853 254564 chr7 2108903 2108903 C T MAD1L1 Nonsynonymous SNV E290K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 254565 chr7 98792822 98792822 C T rs372168467 KPNA7 Nonsynonymous SNV A142T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 254566 chr12 112326799 112326799 A G rs537267303 MAPKAPK5 Nonsynonymous SNV Q305R 0 0.005 0 0 0 2 0 0 0 0 0 0 16.48 254567 chr8 101206357 101206357 T A rs146528350 SPAG1 Synonymous SNV V319V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.9 254568 chr7 27194746 27194746 G C HOXA7 Nonsynonymous SNV R159G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 254569 chr5 35807052 35807052 G C rs372951375 SPEF2 Nonsynonymous SNV E1752Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.9 254570 chr7 29606157 29606157 C A rs762898911 PRR15 Nonsynonymous SNV P71H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 254571 chr11 61081913 61081913 G A rs886802778 DDB1 Synonymous SNV L486L 0.003 0 0 0 4 0 0 0 0 0 0 0 9.907 254572 chr8 11414277 11414277 C T rs150949722 BLK Nonsynonymous SNV R224W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.5 254573 chr3 151163301 151163301 C T rs201186884 IGSF10 Nonsynonymous SNV V1490M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.089 254574 chr3 151165368 151165368 C T rs760939504 IGSF10 Nonsynonymous SNV A801T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.577 254575 chr12 12482973 12482973 A G MANSC1 Synonymous SNV Y428Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.198 254576 chr11 640066 640113 CCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC - DRD4 A281_P296del 0.002 0 0 0 2 0 0 0 0 0 0 0 254577 chr13 35733479 35733479 A T NBEA Synonymous SNV V1057V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.08 254578 chr13 36827957 36827957 G A rs9602561 CCDC169, CCDC169-SOHLH2 Synonymous SNV L51L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.881 254579 chr10 14013764 14013764 C A rs202061713 FRMD4A Synonymous SNV P12P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.316 254580 chr13 49054148 49054148 C A RB1 Synonymous SNV R910R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.78 254581 chr7 56022614 56022614 C T MRPS17 Nonsynonymous SNV R46W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 254582 chr7 6204906 6204906 G C rs144116589 CYTH3 Nonsynonymous SNV I208M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 254583 chr7 75932279 75932279 G A HSPB1 Nonsynonymous SNV G84R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 34 254584 chr13 93879805 93879805 G C rs140177257 GPC6 Nonsynonymous SNV E32D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.71 254585 chr11 67257924 67257924 C T rs267606576 AIP Synonymous SNV Y202Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 8.053 254586 chr7 77326311 77326311 G T RSBN1L Synonymous SNV G175G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.79 254587 chr7 86823294 86823294 T A rs747228809 DMTF1 Nonsynonymous SNV F547Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 254588 chr11 74204266 74204266 T C rs751811684 LIPT2 Synonymous SNV A161A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.778 254589 chr12 49951517 49951517 G A rs752767740 KCNH3 Synonymous SNV E951E 0 0.005 0 0 0 2 0 0 0 0 0 0 5.513 254590 chr11 82879892 82879892 G A rs116099331 PCF11 Nonsynonymous SNV G970S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 254591 chr11 82892209 82892209 T C rs17144735 PCF11 Synonymous SNV H1512H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.06 254592 chr11 85407243 85407243 C T rs570191836 SYTL2 Nonsynonymous SNV R215H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 254593 chr8 23290452 23290452 G A rs760898941 ENTPD4 Nonsynonymous SNV P605L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 254594 chr8 120800644 120800644 T C TAF2 Nonsynonymous SNV N576S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 254595 chr11 85437832 85437832 C A rs752178675 SYTL2 Nonsynonymous SNV V857L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 254596 chr11 86126162 86126162 C G rs145739398 CCDC81 Nonsynonymous SNV P410A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 254597 chr8 133198363 133198363 A G rs963281313 KCNQ3 Nonsynonymous SNV V31A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.12 254598 chr7 103183220 103183220 A G rs772390333 RELN Nonsynonymous SNV L2210S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24 254599 chr11 94533346 94533346 C T rs115326437 AMOTL1 Synonymous SNV H280H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.46 254600 chr10 7745411 7745411 C T rs34117267 ITIH2 Nonsynonymous SNV T5M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.586 254601 chr10 7749164 7749164 A C rs143098176 ITIH2 Synonymous SNV R54R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.86 254602 chr8 41795040 41795040 T C rs770881077 KAT6A Nonsynonymous SNV H1029R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 254603 chr8 41845023 41845023 C T KAT6A Nonsynonymous SNV R220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 254604 chr8 42045454 42045454 C T rs1055213581 PLAT Nonsynonymous SNV E66K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 254605 chr10 81702228 81702228 C T SFTPD Nonsynonymous SNV A117T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 254606 chr10 81702232 81702232 A - SFTPD P116Qfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 254607 chr10 81702236 81702236 G A SFTPD Nonsynonymous SNV P114L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 254608 chr7 127224556 127224556 G A rs903524738 GCC1 Synonymous SNV A227A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.103 254609 chr12 5541510 5541510 T C NTF3 0 0.005 0 0 0 2 0 0 0 0 0 0 24.7 254610 chr6 153042973 153042973 G C rs140600605 MYCT1 Nonsynonymous SNV R50T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 254611 chr8 144644976 144644976 A G rs138643473 GSDMD Nonsynonymous SNV T453A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.001 254612 chr8 144663326 144663326 - G rs747638877 EEF1D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 254613 chr12 57485095 57485095 A G NAB2 Nonsynonymous SNV T91A 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 254614 chr8 144998131 144998131 C T rs782084501 PLEC Nonsynonymous SNV R1975H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 254615 chr8 145107226 145107226 A G rs373664201 OPLAH Nonsynonymous SNV C1103R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 254616 chr6 160496967 160496967 C T rs142965315 IGF2R Nonsynonymous SNV A1752V 0.003 0 0.003 2 4 0 0.005 1 0 0 0 0 Benign 22.1 254617 chr8 91992618 91992618 G A rs866265663 C8orf88 Nonsynonymous SNV P16S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 254618 chr12 112721100 112721100 T G rs562443413 HECTD4 Nonsynonymous SNV N448H 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 254619 chr12 113355373 113355373 G A rs377265214 OAS1 Synonymous SNV A302A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.575 254620 chr6 161173280 161173280 T C rs4252175 PLG Synonymous SNV T753T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.255 254621 chr6 161653222 161653222 C T rs35476617 AGPAT4 Synonymous SNV K8K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.96 254622 chr8 145734930 145734930 C T rs751492931 MFSD3 Nonsynonymous SNV R72C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 254623 chr14 60938375 60938375 G A rs34082126 C14orf39 Nonsynonymous SNV R136C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.56 254624 chr9 101518814 101518814 C T rs199761692 ANKS6 Synonymous SNV T738T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 254625 chr8 18729647 18729647 C T rs141947756 PSD3 Nonsynonymous SNV V210M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 254626 chr8 1949597 1949597 C T rs751497168 KBTBD11 Nonsynonymous SNV A80V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 254627 chr8 195209 195209 C G rs200154551 ZNF596 Nonsynonymous SNV T121S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 254628 chr12 7640504 7640504 C G rs373365038 CD163 Nonsynonymous SNV G534R 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 254629 chr6 17616883 17616883 G A rs149664123 NUP153 Synonymous SNV F1364F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.334 254630 chr6 20113124 20113124 T C rs147720615 MBOAT1 Nonsynonymous SNV T398A 0 0 0 1 0 0 0.003 0 0 0 0 0 29 254631 chr12 124228404 124228404 C T rs778381327 ATP6V0A2 Nonsynonymous SNV R371C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 254632 chr14 70038364 70038364 C T rs758248661 CCDC177 Nonsynonymous SNV R659Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 254633 chr3 98188678 98188678 T G rs193083707 OR5K1 Nonsynonymous SNV F86L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.014 254634 chr14 74443045 74443045 C T rs144401752 ENTPD5 Synonymous SNV T208T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.49 254635 chr12 125462025 125462025 C T rs373681218 DHX37 Synonymous SNV L250L 0.003 0 0 0 3 0 0 0 0 0 0 0 4.207 254636 chr3 99513834 99513834 C A rs150035054 COL8A1 Synonymous SNV G363G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.835 254637 chr6 28200714 28200714 T C rs145267128 ZSCAN9 Nonsynonymous SNV C315R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 254638 chr8 30705068 30705068 G A rs755584587 TEX15 Nonsynonymous SNV A872V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.88 254639 chr8 6679399 6679399 A G rs373084975 XKR5 Nonsynonymous SNV F267L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.273 254640 chr4 106616685 106616685 T C INTS12 Synonymous SNV R99R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.48 254641 chr4 3494630 3494630 C G DOK7 Nonsynonymous SNV A162G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 254642 chr8 53477694 53477694 C T ALKAL1 Synonymous SNV E41E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.652 254643 chr13 113333673 113333673 G A rs752645498 ATP11AUN 0 0.005 0 0 0 2 0 0 0 0 0 0 3.162 254644 chr13 114058872 114058872 C T rs190520736 LOC101928841 Synonymous SNV G1211G 0 0.005 0 0 0 2 0 0 0 0 0 0 2.006 254645 chr13 114107637 114107637 C T rs761364646 ADPRHL1 Nonsynonymous SNV R39H 0 0.005 0 0 0 2 0 0 0 0 0 0 14.94 254646 chr8 67579186 67579186 T C rs201004658 VCPIP1 Nonsynonymous SNV Q3R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 16 254647 chr8 67752238 67752238 - T C8orf44-SGK3, SGK3 Frameshift insertion H251Pfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 254648 chr8 69728125 69728125 C T rs145199497 C8orf34 Synonymous SNV S458S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 254649 chr6 38919177 38919177 T C DNAH8 Nonsynonymous SNV I3894T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 254650 chr4 139966178 139966178 C T rs754662993 NOCT Synonymous SNV I282I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.47 254651 chr12 39745599 39745599 T C KIF21A Synonymous SNV K551K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 254652 chr4 144107275 144107275 C G rs772790160 USP38 Nonsynonymous SNV I224M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 254653 chr13 28498718 28498718 C G rs777512281 PDX1 Synonymous SNV P244P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.62 254654 chr4 144621591 144621591 C G rs756909471 FREM3 Nonsynonymous SNV D80H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 254655 chr8 95142969 95142969 T C rs757522033 CDH17 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 254656 chr8 95143155 95143155 G A rs150270154 CDH17 Nonsynonymous SNV R745C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 254657 chr12 41967132 41967132 C T PDZRN4 Stop gain Q593X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 254658 chr13 37439682 37439682 A G rs767433709 SMAD9 Nonsynonymous SNV I295T 0 0.005 0 0 0 2 0 0 0 0 0 0 28.6 254659 chr8 98788336 98788336 - ATCATCAATGCT rs753385824 LAPTM4B A37_V38insIINA 0 0 0.003 0 0 0 0 1 0 0 0 0 254660 chr8 98788338 98788338 - GGTACTGTTGATTTTATTGAGTGCCCTGGCTGATCCG rs749334554 LAPTM4B 0 0 0.003 0 0 0 0 1 0 0 0 0 254661 chr9 108284486 108284486 C T RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.81 254662 chr12 52470764 52470764 C T rs368896921 ATG101 Synonymous SNV C149C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.21 254663 chr9 116185750 116185750 G A rs186534707 C9orf43 Nonsynonymous SNV E210K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.895 254664 chr13 98662247 98662247 C T IPO5 Nonsynonymous SNV P638L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 254665 chr8 53085088 53085088 G A rs141678930 ST18 Synonymous SNV N111N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.139 254666 chr15 43724612 43724612 G A rs370172450 TP53BP1 Nonsynonymous SNV P1152L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 254667 chr12 53008470 53008470 C G rs748162412 KRT73-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 13.22 254668 chr8 67590151 67590151 C T rs10096544 C8orf44 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 254669 chr9 123675727 123675727 C T rs140933488 TRAF1 Nonsynonymous SNV R73H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 254670 chr11 18727476 18727476 G A rs766953015 IGSF22 Synonymous SNV G1266G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 254671 chr9 126143988 126143988 G A rs376233242 DENND1A Nonsynonymous SNV P929L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 254672 chr11 20066808 20066808 G A rs141834826 NAV2 Nonsynonymous SNV R251Q 0.003 0 0 0 4 0 0 0 0 0 0 0 29.2 254673 chr9 20990241 20990241 G A rs370546418 FOCAD Synonymous SNV P1708P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.403 254674 chr9 22447313 22447313 G A rs778155730 DMRTA1 Synonymous SNV G83G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.137 254675 chr9 128094283 128094283 C T rs767253976 GAPVD1 Nonsynonymous SNV T730M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 254676 chr15 60648144 60648144 G A rs567083246 ANXA2 Nonsynonymous SNV R186C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 254677 chr6 90660795 90660795 G A BACH2 Synonymous SNV L344L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.856 254678 chr12 57423038 57423038 T A MYO1A Synonymous SNV S961S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.832 254679 chr12 57603910 57603910 G A rs199833827 LRP1 Nonsynonymous SNV G4180S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 254680 chr4 436629 436629 T C rs782809505 ZNF721 Nonsynonymous SNV I543V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 254681 chr9 379812 379812 G A rs138519226 DOCK8 Nonsynonymous SNV A760T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 254682 chr9 134463398 134463398 G A RAPGEF1 Synonymous SNV H854H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 254683 chr15 72190177 72190177 C T MYO9A Nonsynonymous SNV R1556K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.09 254684 chr12 6973339 6973339 T C rs150459329 USP5 Synonymous SNV L742L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.273 254685 chr14 24034818 24034818 C T rs142782750 AP1G2 Synonymous SNV L174L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 12.85 254686 chr15 77907954 77907954 C T rs150289554 LINGO1 Nonsynonymous SNV E99K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.8 254687 chr15 79748714 79748714 C T MINAR1 Synonymous SNV N75N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.569 254688 chr9 140108751 140108751 C T rs768153043 NDOR1 Nonsynonymous SNV P169L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 254689 chr12 9085590 9085601 GCTAAGATGTCA - rs570712396 PHC1 K514_A517del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 254690 chr9 99521931 99521931 C T rs539725262 ZNF510 Nonsynonymous SNV R332H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.169 254691 chr7 103214565 103214565 C T rs542018962 RELN Synonymous SNV T1495T 0 0 0 2 0 0 0.005 0 0 0 0 0 15.05 254692 chr7 104749581 104749581 G A KMT2E Nonsynonymous SNV A1221T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 254693 chr7 105029121 105029121 C T rs146307731 SRPK2 Nonsynonymous SNV G20D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.47 254694 chr15 86124303 86124303 G T AKAP13 Nonsynonymous SNV A1002S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.1 254695 chr7 106938598 106938598 C A rs200021706 COG5 Nonsynonymous SNV K465N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 14.63 254696 chr7 107398967 107398967 C T rs759530039 CBLL1 Nonsynonymous SNV P273S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.62 254697 chr14 51224761 51224761 G A rs41313507 NIN Nonsynonymous SNV A996V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 254698 chr7 121756713 121756713 G A rs772963588 AASS Nonsynonymous SNV R290C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 254699 chr7 122338448 122338448 G A rs145587897 RNF133 Synonymous SNV A175A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.397 254700 chr9 32481365 32481365 G A rs150568623 DDX58 Synonymous SNV A537A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.67 254701 chrX 129149172 129149172 G A rs138691600 BCORL1 Synonymous SNV T808T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.89 254702 chr9 35680976 35680976 G C rs142538914 CA9 Nonsynonymous SNV G445A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 254703 chr15 91542279 91542279 T C rs868354713 VPS33B Nonsynonymous SNV R567G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 254704 chr9 2039787 2039787 A C rs147609454 SMARCA2 Nonsynonymous SNV Q226P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.71 254705 chr13 113086790 113086790 C T rs776764586 SPACA7 Synonymous SNV L160L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.091 254706 chr9 5656632 5656632 A G rs373615004 RIC1 Nonsynonymous SNV Q65R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 254707 chr13 20635309 20635309 A G rs199677304 ZMYM2 Synonymous SNV T952T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.238 254708 chrX 152815605 152815605 C T ATP2B3 Nonsynonymous SNV R562C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 254709 chr14 73989464 73989464 G A rs140447974 HEATR4 Synonymous SNV D131D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.279 254710 chrX 153533733 153533733 A C TKTL1 Nonsynonymous SNV D15A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.305 254711 chrX 153588407 153588407 C T rs186619828 FLNA Synonymous SNV A1252A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.81 254712 chr13 24448998 24448998 A G rs150167906 MIPEP Nonsynonymous SNV L197P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 254713 chr7 139416356 139416356 C T rs767156658 HIPK2 Nonsynonymous SNV G160R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.93 254714 chr7 139611070 139611070 A G rs756060703 TBXAS1 Nonsynonymous SNV M95V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.6 254715 chr5 113698747 113698747 G A rs750003653 KCNN2 Nonsynonymous SNV G304E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.867 254716 chr5 113698748 113698748 A G KCNN2 Synonymous SNV G304G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.196 254717 chr16 1712573 1712573 T C rs201094456 CRAMP1 Synonymous SNV A832A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 7.845 254718 chr7 141619290 141619290 T G rs782516706 OR9A4 Nonsynonymous SNV F205L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.68 254719 chr16 2052653 2052653 C T rs779776449 ZNF598 Synonymous SNV S182S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.21 254720 chrX 71379880 71379880 C T rs754522531 FLJ44635 Synonymous SNV T67T 0.003 0 0 0 3 0 0 0 1 0 0 0 11.25 254721 chr14 94417529 94417529 G A rs200751958 ASB2 Synonymous SNV N184N 0 0.005 0 0 0 2 0 0 0 0 0 0 10.62 254722 chr13 48916837 48916837 A G rs149800437 RB1 Nonsynonymous SNV N123D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.5 254723 chrX 134655216 134655216 C A INTS6L Synonymous SNV T54T 0 0 0.007 0 0 0 0 2 0 0 1 0 15.41 254724 chr13 52598458 52598458 C G ALG11 Nonsynonymous SNV H198D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 254725 chr7 150905048 150905048 G A rs747553270 H2BE1 Nonsynonymous SNV T122M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.231 254726 chr13 52952773 52952773 C T rs573558706 THSD1 Synonymous SNV K391K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.863 254727 chr7 151372707 151372707 G A PRKAG2 Synonymous SNV S37S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.814 254728 chr7 151574208 151574208 C A PRKAG2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 254729 chr13 72147628 72147628 G C DACH1 Nonsynonymous SNV P402A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.776 254730 chr7 151878600 151878600 A C KMT2C Synonymous SNV A2115A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 254731 chr7 151880084 151880084 T C KMT2C Nonsynonymous SNV H1747R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 254732 chr15 100943071 100943071 C G CERS3 0 0.003 0 0 0 1 0 0 0 0 0 0 23 254733 chrX 27480697 27480697 C T rs73628812 PPP4R3C Synonymous SNV R239R 0 0 0.027 0 0 0 0 8 0 0 3 0 4.393 254734 chrX 38013738 38013738 A T SRPX Synonymous SNV P376P 0 0 0.007 0 0 0 0 2 0 0 1 0 8.013 254735 chr10 112647565 112647565 C T rs144940985 PDCD4 Nonsynonymous SNV T219I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 254736 chr15 34544540 34544540 G A rs145615604 SLC12A6 Synonymous SNV D373D 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.97 254737 chrX 51150713 51150745 GCGATTCTGCGCCAGGCCCTGCCCGCCGAGGCC - EZHIP G287_P297del 0 0 0.007 0 0 0 0 2 0 0 1 0 254738 chrX 53112200 53112200 G A rs782013886 TSPYL2 Nonsynonymous SNV D174N 0 0 0.007 0 0 0 0 2 0 0 1 0 24.6 254739 chr16 3569974 3569974 C T rs748456720 CLUAP1 Synonymous SNV I51I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.05 254740 chrX 57475034 57475034 C T rs190145044 FAAH2 Nonsynonymous SNV R396C 0 0 0.007 0 0 0 0 2 0 0 1 0 24.1 254741 chr15 40589086 40589086 G A PLCB2 Synonymous SNV P449P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.967 254742 chr15 41829268 41829268 C T rs763915396 RPAP1 Nonsynonymous SNV S19N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.05 254743 chr14 105847365 105847365 T G rs199748488 PACS2 Nonsynonymous SNV D399E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.288 254744 chr15 42120327 42120327 C T rs761210356 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV A2V 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.5 254745 chr11 61730197 61730197 T C rs145209035 BEST1 Nonsynonymous SNV M437T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.001 254746 chr11 61730414 61730414 C A rs115379107 BEST1 Synonymous SNV T490T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 254747 chr11 61730427 61730427 G T rs115979721 BEST1 Nonsynonymous SNV A495S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.584 254748 chr11 61897409 61897409 C T rs34441559 INCENP Nonsynonymous SNV A137V 0.003 0.003 0 0 4 1 0 0 1 0 0 0 10.21 254749 chr15 42173268 42173268 C G rs769367561 SPTBN5 Nonsynonymous SNV L874F 0 0.005 0 1 0 2 0.003 0 0 0 0 0 23.4 254750 chr11 62010939 62010939 G A rs2232951 SCGB1D2 Synonymous SNV A78A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.789 254751 chr10 103360589 103360589 G A rs201479943 DPCD Synonymous SNV G80G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.513 254752 chr10 103900704 103900704 A C rs201355794 PPRC1 Synonymous SNV T813T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 254753 chr10 104128502 104128502 C T rs375347326 GBF1 Synonymous SNV C962C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 254754 chr15 42606294 42606294 G A rs767262787 GANC Synonymous SNV X358X 0 0.005 0 1 0 2 0.003 0 0 0 0 0 4.292 254755 chr10 105659879 105659879 C T rs373606965 STN1 Nonsynonymous SNV R133Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.55 254756 chr10 105893436 105893436 T G rs184028716 CFAP43 Nonsynonymous SNV D1513A 0 0 0.003 0 0 0 0 1 0 0 0 0 31 254757 chr7 43622969 43622969 C T rs11555027 STK17A Synonymous SNV L43L 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 15.94 254758 chr11 64032442 64032442 C T rs199593049 PLCB3 Nonsynonymous SNV T824M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.167 254759 chr11 64072056 64072056 G A rs200513166 CATSPERZ Nonsynonymous SNV E181K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 254760 chr11 64088228 64088228 T G rs144975955 PRDX5 Synonymous SNV T89T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.692 254761 chr11 64323507 64323507 C T rs72559736 SLC22A11 Synonymous SNV G12G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.36 254762 chr11 64525730 64525730 G A rs147402432 PYGM Synonymous SNV S84S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.35 254763 chr7 45141473 45141473 G A rs369204270 TBRG4 Synonymous SNV S396S 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 8.684 254764 chr16 66861908 66861908 G C rs370072607 NAE1 Nonsynonymous SNV Q4E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.702 254765 chr16 68338083 68338083 C T rs34795337 SLC7A6OS Nonsynonymous SNV R175Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 254766 chr7 4802065 4802065 C T rs62453207 FOXK1 Synonymous SNV A724A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 10.32 254767 chr11 65308051 65308051 A G rs151139557 LTBP3 Synonymous SNV I1004I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.851 254768 chr16 70502771 70502771 T A rs201690930 FCSK Nonsynonymous SNV F228Y 0 0.005 0.003 0 0 2 0 1 0 0 0 0 32 254769 chr10 122663618 122663618 A G rs114808011 WDR11 Synonymous SNV T997T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.072 254770 chr16 70805913 70805913 G A rs1003645207 VAC14-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.454 254771 chr11 65628899 65628899 C T rs34381357 MUS81 Nonsynonymous SNV S115F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 254772 chr14 24788409 24788409 G A rs77240037 ADCY4 Nonsynonymous SNV R951W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 254773 chr16 727945 727945 G A rs554664638 RHBDL1 Nonsynonymous SNV G264S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 254774 chr11 65638736 65638736 C T rs149525720 EFEMP2 Nonsynonymous SNV V87I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.54 254775 chr14 24883994 24883994 G A rs140818379 NYNRIN Synonymous SNV A1013A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 254776 chr15 65249490 65249490 G A ANKDD1A Nonsynonymous SNV R511Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.433 254777 chr7 64167152 64167152 A T rs746315300 ZNF107 Nonsynonymous SNV E194V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 254778 chr10 135099102 135099102 G A TUBGCP2 Stop gain Q455X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 254779 chr10 15154864 15154864 T C NMT2 Synonymous SNV S423S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.63 254780 chr14 52508947 52508947 C A rs146579786 NID2 Synonymous SNV T567T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 254781 chr10 24669979 24669979 C T rs61735612 KIAA1217 Nonsynonymous SNV T179M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 254782 chr14 57755522 57755522 C T rs375461296 AP5M1 Nonsynonymous SNV R465W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 254783 chr15 79586806 79586806 A T rs759077946 ANKRD34C Nonsynonymous SNV I394F 0 0.005 0 0 0 2 0 0 0 0 0 0 0.028 254784 chr5 5461849 5461849 G T rs554520396 ICE1 Nonsynonymous SNV G801V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 254785 chr16 89349513 89349513 G A rs150325340 ANKRD11 Nonsynonymous SNV T1146M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.03 254786 chr16 919003 919003 G A rs34934602 LMF1 Stop gain R464X 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 7.877 254787 chr8 116631590 116631590 G A rs199888153 TRPS1 Synonymous SNV Y236Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.013 254788 chr8 121519100 121519100 G A rs750228660 MTBP Nonsynonymous SNV G628R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.29 254789 chr14 79111646 79111646 C T rs748299316 NRXN3 Nonsynonymous SNV A314V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 254790 chr14 81609474 81609474 G A TSHR Nonsynonymous SNV E358K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 254791 chr10 5931126 5931126 G T rs766032716 ANKRD16 Synonymous SNV I64I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 254792 chr10 61012730 61012730 C T rs369226393 FAM13C Nonsynonymous SNV R356H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.87 254793 chr8 125988645 125988650 TAAACT - rs547438918 ZNF572 L47_K48del 0 0 0 1 0 0 0.003 0 0 0 0 0 254794 chr12 101767224 101767224 C T rs112278934 UTP20 Synonymous SNV A2308A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.81 254795 chr10 74034063 74034063 C G DDIT4 Nonsynonymous SNV P30R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 254796 chr10 74953294 74953294 C G rs533399071 FAM149B1 Nonsynonymous SNV P162R 0.003 0.008 0.003 2 3 3 0.005 1 0 0 0 0 24.6 254797 chr10 75672797 75672797 G A rs764563021 PLAU Synonymous SNV T86T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.47 254798 chr16 20750292 20750292 C T rs753221834 THUMPD1 Synonymous SNV E111E 0 0.005 0 0 0 2 0 0 0 0 0 0 14.02 254799 chr8 144671447 144671447 C T rs201134490 EEF1D Nonsynonymous SNV E269K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 17.42 254800 chr8 144732092 144732092 A G rs149195471 ZNF623 Nonsynonymous SNV K17R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.31 254801 chr8 144943844 144943844 C T rs782467282 EPPK1 Nonsynonymous SNV R1193H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.122 254802 chr16 23226743 23226743 G A rs773879529 SCNN1G Nonsynonymous SNV A635T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 20.3 254803 chr6 117121937 117121937 A G rs745591268 GPRC6A Nonsynonymous SNV V278A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.17 254804 chr8 144999816 144999816 C T PLEC Synonymous SNV Q1413Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.462 254805 chr17 36522178 36522178 C T rs769010821 SOCS7 Nonsynonymous SNV P421S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 254806 chr16 30035200 30035200 A G C16orf92 Nonsynonymous SNV N73D 0 0.005 0 0 0 2 0 0 0 0 0 0 11.25 254807 chr16 30123453 30123453 G A rs200801803 GDPD3 Synonymous SNV A191A 0 0.005 0 0 0 2 0 0 0 0 0 0 11.75 254808 chr8 145699754 145699754 C A rs199639592 FOXH1 Nonsynonymous SNV G322V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.1 254809 chr16 30516580 30516580 C T rs752667013 ITGAL Nonsynonymous SNV P667S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.801 254810 chr8 146106905 146106905 A G rs765708697 ZNF250 Synonymous SNV L539L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 254811 chr15 42982975 42982975 A T rs1030725440 STARD9 Nonsynonymous SNV T3067S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 254812 chr15 43733766 43733766 T C rs45470395 TP53BP1 Nonsynonymous SNV E1019G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 254813 chr15 42630592 42630592 G T rs370258614 GANC Nonsynonymous SNV V583L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 254814 chr16 53691527 53691527 T G rs769686672 RPGRIP1L Nonsynonymous SNV K473N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.2 254815 chr15 45559941 45559941 G A rs139537844 SLC28A2 Synonymous SNV P382P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.981 254816 chr8 28186716 28186716 C T rs781054493 PNOC Synonymous SNV F14F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 254817 chr17 40762548 40762548 C T rs772352865 TUBG1 Synonymous SNV N90N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.65 254818 chr12 16377347 16377347 C T rs117974895 SLC15A5 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 254819 chr11 116661339 116661339 G A rs140482460 APOA5 Synonymous SNV I202I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 254820 chr15 57524933 57524933 A G TCF12 Synonymous SNV S47S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.326 254821 chr6 17426840 17426840 A G CAP2 Synonymous SNV E47E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.55 254822 chr11 121460878 121460897 GTGGAGGTAAGAGGCCCCTG - SORL1 C1403_D1405delinsY 0 0 0.003 0 0 0 0 1 0 0 0 0 254823 chr11 119001414 119001414 C T HINFP Nonsynonymous SNV P77L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.87 254824 chr6 2749589 2749589 C T rs578015062 MYLK4 Synonymous SNV S36S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.299 254825 chr11 1262277 1262277 G A rs371356619 MUC5B Synonymous SNV P1389P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.242 254826 chr11 126283910 126283910 A T rs988504380 ST3GAL4 Nonsynonymous SNV M323L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.806 254827 chr6 34824150 34824150 C T UHRF1BP1 Nonsynonymous SNV H419Y 0 0 0 1 0 0 0.003 0 0 0 0 0 18.86 254828 chr17 60472510 60472510 C T rs150952022 EFCAB3 Nonsynonymous SNV T150I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.424 254829 chr16 87678562 87678562 G A JPH3 Nonsynonymous SNV E361K 0 0.005 0 0 0 2 0 0 0 0 0 0 32 254830 chr17 62076489 62076489 C T rs3181028 PRR29-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.407 254831 chr6 40360426 40360426 G A LRFN2 Synonymous SNV I542I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.16 254832 chr12 53205605 53205605 - A KRT4 Frameshift insertion G207Wfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 254833 chr17 67119481 67119481 C G ABCA6 Nonsynonymous SNV R445S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.23 254834 chr12 54903641 54903641 G A rs958135628 NCKAP1L Nonsynonymous SNV G153R 0.002 0 0 0 2 0 0 0 0 0 0 0 21 254835 chr17 71431717 71431717 C A SDK2 Nonsynonymous SNV R356L 0 0.003 0 0 0 1 0 0 0 0 0 0 35 254836 chr6 46675855 46675855 C T rs201635666 PLA2G7 Nonsynonymous SNV E305K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 254837 chr17 7256798 7256798 G A KCTD11 Synonymous SNV L179L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.388 254838 chr17 72919086 72919086 G A rs145448362 USH1G Nonsynonymous SNV P28L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 254839 chr6 49518976 49518976 C T C6orf141 Synonymous SNV Y157Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.11 254840 chr16 1584391 1584391 C T rs367572920 TMEM204 Nonsynonymous SNV R39C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 254841 chr17 73512853 73512853 C T rs201089582 TSEN54 Nonsynonymous SNV S28L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 25.4 254842 chr16 1484519 1484519 C T CCDC154 Nonsynonymous SNV A632T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.478 254843 chr17 73825036 73825036 C G rs138760432 UNC13D Nonsynonymous SNV A995P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.16 254844 chr17 73827335 73827335 T G rs144968313 UNC13D Nonsynonymous SNV I848L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.29 254845 chr11 26734214 26734214 C A SLC5A12 Nonsynonymous SNV A127S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 33 254846 chr12 6858091 6858091 T C rs750988060 MLF2 Nonsynonymous SNV Q206R 0.003 0 0 0 3 0 0 0 0 0 0 0 2.344 254847 chr17 74473329 74473329 C T rs140433374 RHBDF2 Nonsynonymous SNV A285T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 27.2 254848 chr16 20809303 20809303 C T rs200253322 ERI2 Nonsynonymous SNV V607I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.202 254849 chr16 20935362 20935362 G A rs34168436 LYRM1 Nonsynonymous SNV R98Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 254850 chr17 27413970 27413970 C T rs769195242 MYO18A Nonsynonymous SNV R1862H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 254851 chr17 7836434 7836434 G C CNTROB Nonsynonymous SNV G13R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 254852 chr7 100252722 100252722 G A rs929755522 ACTL6B Stop gain R97X 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 35 254853 chr16 30123709 30123724 CGAACCATGCGCCGGT - rs748413197 GDPD3 D129Vfs*14 0.001 0 0 1 1 0 0.003 0 0 0 0 0 254854 chr16 31494483 31494483 C G rs564249983 SLC5A2 Nonsynonymous SNV S9W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 254855 chr13 101707779 101707779 G C rs777652451 NALCN Synonymous SNV T1666T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.012 254856 chr11 55110910 55110910 A G rs201952971 OR4A16 Synonymous SNV K78K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 254857 chr17 37873581 37873581 C T rs138893464 ERBB2 Synonymous SNV D582D 0 0.005 0 0 0 2 0 0 0 0 0 0 15.49 254858 chr17 37898519 37898519 A C rs201861511 GRB7 Nonsynonymous SNV T12P 0 0.005 0 0 0 2 0 0 0 0 0 0 0.011 254859 chr16 55539272 55539272 G T MMP2 Nonsynonymous SNV G584V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 254860 chr17 39394555 39394555 C A rs769725349 KRTAP9-8 Synonymous SNV T84T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.74 254861 chr18 12701068 12701068 T C rs773662461 CEP76 Nonsynonymous SNV I36M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.52 254862 chr7 101272328 101272328 C T rs113556810 MYL10 Nonsynonymous SNV G24E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.679 254863 chr16 58541767 58541767 C T rs544767378 NDRG4 Nonsynonymous SNV R244C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 254864 chr7 116397580 116397580 C T MET Nonsynonymous SNV T221I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 254865 chr13 45768354 45768354 A G KCTD4 Nonsynonymous SNV F117L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24.8 254866 chr9 75303654 75303654 G A rs140437301 TMC1 Nonsynonymous SNV E16K 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 13.45 254867 chr16 74640673 74640673 C T GLG1 Nonsynonymous SNV G107D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 254868 chr16 71955270 71955270 G A rs139513735 IST1 Nonsynonymous SNV A8T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.2 254869 chr13 58209163 58209163 G A rs755064244 PCDH17 Nonsynonymous SNV G828E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 254870 chr7 134849218 134849218 C T rs774240687 TMEM140 Nonsynonymous SNV R9C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.26 254871 chr11 62473044 62473044 C T rs3763853 BSCL2 Nonsynonymous SNV G45S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.8 254872 chr11 62519727 62519727 G A rs751964660 ZBTB3 Synonymous SNV R470R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.235 254873 chr11 62598564 62598564 G A rs3802945 STX5 Nonsynonymous SNV P51L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 254874 chr13 79942881 79942881 C A rs375141093 RBM26 Synonymous SNV R293R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 254875 chr16 77240382 77240382 A G SYCE1L Nonsynonymous SNV I36V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 254876 chr11 64656643 64656643 A C MIR194-2HG 0 0 0.003 0 0 0 0 1 0 0 0 0 5.215 254877 chr17 48918254 48918254 C T rs146313081 WFIKKN2 Synonymous SNV G442G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 254878 chr18 72913991 72913991 C - rs767844060 ZADH2 E49Kfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 254879 chr18 72913993 72913993 G T rs752489882 ZADH2 Stop gain S48X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 254880 chr18 72914003 72914003 C T rs138835821 ZADH2 Nonsynonymous SNV G45R 0 0.003 0 0 0 1 0 0 0 0 0 0 30 254881 chrX 12939250 12939250 A G TLR8 Synonymous SNV G697G 0.001 0 0 2 1 0 0.005 0 0 0 0 1 0.002 254882 chr11 6631814 6631814 C A rs959927407 ILK Nonsynonymous SNV P383H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 254883 chr16 84690638 84690638 C T rs775163992 KLHL36 Synonymous SNV F75F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.871 254884 chr17 57292240 57292240 T C rs74665766 SMG8 Synonymous SNV L951L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.553 254885 chr18 9256363 9256368 ATAAAG - rs774870578 ANKRD12 D1012_K1013del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 254886 chr17 58121264 58121264 C T rs34895210 HEATR6 Nonsynonymous SNV R1069Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 254887 chr11 6816250 6816250 C A rs761425102 OR6A2 Synonymous SNV V230V 0 0 0.007 0 0 0 0 2 0 0 0 0 12.06 254888 chr17 58734091 58734091 A C rs111239559 PPM1D Synonymous SNV G383G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.564 254889 chr17 61561304 61561304 C T rs4314 ACE Nonsynonymous SNV R561W 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 33 254890 chr17 61566402 61566402 C G rs4975 ACE Synonymous SNV L276L 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 9.74 254891 chr17 61790802 61790802 T C rs768646571 STRADA Synonymous SNV L67L 0 0.005 0 0 0 2 0 0 0 0 0 0 9.325 254892 chr17 62018452 62018452 G A rs113277954 SCN4A Synonymous SNV C1730C 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 5.027 254893 chr17 62045693 62045693 G A rs73326368 SCN4A Synonymous SNV A242A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 11.07 254894 chr17 62078584 62078584 C T rs73326402 PRR29 Synonymous SNV A128A 0 0.005 0 0 0 2 0 0 0 0 0 0 10.59 254895 chr16 88926337 88926337 A G TRAPPC2L Nonsynonymous SNV M111V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.594 254896 chr11 73744718 73744718 C A rs550167325 C2CD3 Nonsynonymous SNV V2163F 0 0 0.007 0 0 0 0 2 0 0 0 0 1.291 254897 chr14 23390100 23390100 T C rs766932007 PRMT5-AS1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.44 254898 chr17 11778445 11778445 A G rs372078743 DNAH9 Synonymous SNV K3474K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.857 254899 chrX 46360423 46360423 G A rs182004761 ZNF674 Stop gain R201X 0.001 0.003 0 4 1 1 0.01 0 0 0 0 2 Conflicting interpretations of pathogenicity 32 254900 chr14 24656739 24656739 G A rs373482173 IPO4 Nonsynonymous SNV A152V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.79 254901 chrX 9935673 9935673 C G CLDN34 Nonsynonymous SNV F92L 0.001 0 0 2 1 0 0.005 0 0 0 0 1 8.013 254902 chr11 9116358 9116358 G A rs11042176 KRT8P41 0 0 0.003 0 0 0 0 1 0 0 0 0 7.025 254903 chr12 100646070 100646070 T C DEPDC4 Nonsynonymous SNV K420E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 254904 chr17 26906405 26906405 T A rs758307725 SPAG5 Nonsynonymous SNV I995F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 254905 chr17 26942730 26942730 G A rs61740934 KIAA0100 Synonymous SNV D2016D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.177 254906 chr12 10783771 10783772 CA - rs750293288 STYK1 V108Afs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 254907 chr17 30213044 30213044 C T rs113683685 UTP6 Nonsynonymous SNV E220K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.33 254908 chr17 30226738 30226738 T C rs16967042 UTP6 Nonsynonymous SNV K35R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.89 254909 chr17 30551707 30551707 A G rs58010811 RHOT1 Synonymous SNV A583A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.346 254910 chr17 78041434 78041434 G A rs997533869 CCDC40 Nonsynonymous SNV V565I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.91 254911 chr12 110232227 110232227 G A rs146929022 TRPV4 Synonymous SNV F359F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 14.23 254912 chr14 63269290 63269290 T C rs149561461 KCNH5 Nonsynonymous SNV I527V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 254913 chr17 78313436 78313436 A C RNF213 Nonsynonymous SNV M1757L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 254914 chr14 65259994 65259994 C T rs779141940 SPTB Nonsynonymous SNV R796H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 254915 chr17 79202732 79202732 G A rs200266052 TEPSIN Nonsynonymous SNV A525V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 254916 chr12 116421024 116421024 G C rs150339628 MED13L Nonsynonymous SNV T1618S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.283 254917 chr12 120575824 120575824 G A rs567031059 GCN1 Nonsynonymous SNV R2092W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 254918 chr12 120661613 120661613 G A rs61757821 PXN Synonymous SNV Y88Y 0 0 0.01 0 0 0 0 3 0 0 0 0 10.06 254919 chr12 122286914 122286914 G A rs147886444 HPD Nonsynonymous SNV A196V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.914 254920 chr19 3547309 3547309 G A rs34649654 MFSD12 Synonymous SNV S319S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.05 254921 chr17 39021106 39021106 G A rs372320618 KRT12 Synonymous SNV I253I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 254922 chr14 89220879 89220879 A G rs777894753 EML5 Synonymous SNV L112L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.321 254923 chr11 7982026 7982026 G A rs746884387 NLRP10 Nonsynonymous SNV P378L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.82 254924 chr14 91211166 91211166 G A rs141007402 TTC7B Synonymous SNV I182I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 254925 chr7 98506429 98506429 C T rs537115692 TRRAP Synonymous SNV A398A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.79 254926 chr14 92264714 92264714 C - rs879038838 TC2N D223Tfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 254927 chr12 129190511 129190511 C T rs765900766 TMEM132C Nonsynonymous SNV R1000C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 254928 chr12 13154331 13154331 C T rs556742246 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.918 254929 chr12 131569097 131569097 G A rs144706021 ADGRD1 Synonymous SNV G520G 0 0 0.01 0 0 0 0 3 0 0 0 0 5.585 254930 chr19 37975491 37975491 G A rs746918405 ZNF570 Nonsynonymous SNV V281I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.243 254931 chr18 32954024 32954024 T C rs144629150 ZNF396 Nonsynonymous SNV H78R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.81 254932 chr19 38948693 38948693 T C RYR1 Nonsynonymous SNV I643T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26.9 254933 chr19 3942175 3942175 C T rs754650767 NMRK2 Synonymous SNV A204A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.47 254934 chr1 28598908 28598908 G A rs368963626 SESN2 Synonymous SNV L156L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.2 254935 chr12 32903031 32903031 C T YARS2 Nonsynonymous SNV A372T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 254936 chr1 33099258 33099258 G T rs769839161 ZBTB8OS Nonsynonymous SNV F110L 0 0 0 1 0 0 0.003 0 0 0 0 0 25 254937 chr15 40594346 40594346 G A rs150110779 PLCB2 Nonsynonymous SNV P166L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 254938 chr12 42836501 42836501 C T rs778909777 PPHLN1 Synonymous SNV H241H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 254939 chr8 139165232 139165232 A T FAM135B Nonsynonymous SNV S496T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.52 254940 chr18 56204167 56204167 G T rs375744631 ALPK2 Nonsynonymous SNV H1084Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.09 254941 chr18 56246389 56246389 G A rs145586769 ALPK2 Nonsynonymous SNV P540L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.587 254942 chr17 46058638 46058638 C - CDK5RAP3 Q240Rfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 254943 chr12 51102337 51102337 G A rs746963040 DIP2B Nonsynonymous SNV V881M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 254944 chr11 111728356 111728356 T G rs782036494 ALG9 Nonsynonymous SNV I53L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 7.898 254945 chr8 145140885 145140885 G T rs781814383 GPAA1 Nonsynonymous SNV A575S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.81 254946 chr11 113688443 113688443 G T rs756781503 USP28 Nonsynonymous SNV T134K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.188 254947 chr17 54554984 54554984 G A rs763328804 ANKFN1 Nonsynonymous SNV V640M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 254948 chr17 61560033 61560033 G A rs35865660 ACE Nonsynonymous SNV R442H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.142 254949 chr17 61574215 61574215 C T rs12709442 ACE Nonsynonymous SNV T572M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 254950 chr17 61574675 61574675 G A rs12720745 ACE Nonsynonymous SNV R675Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 254951 chr17 61601588 61601588 C T rs146531132 KCNH6 Synonymous SNV S55S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 254952 chr17 61622999 61622999 T C rs35166012 KCNH6 Synonymous SNV C871C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 254953 chr17 61898718 61898718 C T rs61741254 FTSJ3 Nonsynonymous SNV E628K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 254954 chr17 61899452 61899452 T C rs61747443 FTSJ3 Nonsynonymous SNV Y456C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.38 254955 chr17 61909095 61909095 A G rs1131321 PSMC5 Synonymous SNV T356T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.037 254956 chr12 57005938 57005938 C T BAZ2A Nonsynonymous SNV A410T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 254957 chr12 65672575 65672575 C T rs373497233 MSRB3 Synonymous SNV R9R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.24 254958 chr12 66275522 66275522 G A HMGA2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.013 254959 chr12 66709105 66709105 A G rs75324469 HELB Nonsynonymous SNV I648V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.317 254960 chr12 66856782 66856782 C T rs17102531 GRIP1 Nonsynonymous SNV A322T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 24.7 254961 chr19 50831901 50831901 C T KCNC3 Nonsynonymous SNV V71M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 254962 chr15 78390890 78390890 A T rs777093147 SH2D7 Nonsynonymous SNV K199N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 254963 chr12 72338422 72338422 C T rs756158215 TPH2 Nonsynonymous SNV H166Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 254964 chr19 15296081 15296081 C G rs200424369 NOTCH3 Synonymous SNV P761P 0 0.005 0 0 0 2 0 0 0 0 0 0 8.099 254965 chr17 7318092 7318092 G A rs377106671 NLGN2 Nonsynonymous SNV E257K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.4 254966 chr15 86207945 86207945 C G AKAP13 Nonsynonymous SNV L273V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 254967 chr12 94542758 94542758 C T PLXNC1 Nonsynonymous SNV S4F 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 254968 chr8 72246360 72246360 G A rs370509332 EYA1 Synonymous SNV D58D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 254969 chr19 17556067 17556067 C T rs558870960 TMEM221 Nonsynonymous SNV R116H 0 0.005 0 0 0 2 0 0 0 0 0 0 33 254970 chr19 53854365 53854365 C T rs61743337 ZNF845 Nonsynonymous SNV S146L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.6 254971 chr8 82370894 82370894 T C rs139486050 FABP9 Synonymous SNV K97K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.875 254972 chr13 103390074 103390074 C T rs543600951 CCDC168 Nonsynonymous SNV A4325T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.224 254973 chr17 76187091 76187091 G A rs138405849 AFMID Nonsynonymous SNV R35Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.72 254974 chr13 106124979 106124991 CATTTACAGAGAT - DAOA Y13Mfs*26 0 0 0.007 0 0 0 0 2 0 0 0 0 254975 chr13 111521677 111521677 C T rs9588286 LINC00346 0 0 0.007 0 0 0 0 2 0 0 0 0 2.571 254976 chr13 111521684 111521684 G A rs9588287 LINC00346 0 0 0.007 0 0 0 0 2 0 0 0 0 11.24 254977 chr13 111521742 111521742 G A rs111765883 LINC00346 0 0 0.007 0 0 0 0 2 0 0 0 0 0.567 254978 chr13 113516854 113516854 G C rs543346107 ATP11A Nonsynonymous SNV V986L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 254979 chr13 114514843 114514843 C T rs376538754 TMEM255B Synonymous SNV P268P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.786 254980 chr17 77769212 77769212 G C CBX8 Nonsynonymous SNV P131R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 254981 chr13 20356874 20356874 C T rs201078962 PSPC1 Synonymous SNV K8K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 254982 chr19 21240769 21240769 A G rs778512927 ZNF430 Nonsynonymous SNV Q551R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.044 254983 chr13 25486186 25486186 T G rs794727515 CENPJ Nonsynonymous SNV K156Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 27 254984 chr17 79210581 79210581 A C rs144443843 TEPSIN Stop gain Y78X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 254985 chr16 15808861 15808861 G A rs149566621 MYH11 Synonymous SNV N1897N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.88 254986 chr19 33182930 33182930 G C rs1021424199 NUDT19 Nonsynonymous SNV A22P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 254987 chr13 38160347 38160347 G A POSTN Nonsynonymous SNV T275I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 254988 chr13 42524122 42524122 G C rs61752293 VWA8 Nonsynonymous SNV S64C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 254989 chr13 43986063 43986063 T C rs76824578 ENOX1 Nonsynonymous SNV Q101R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 254990 chr9 116356457 116356457 C T rs555206859 RGS3 Synonymous SNV T86T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.665 254991 chr17 8216256 8216256 C T rs138521691 ARHGEF15 Synonymous SNV C206C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.618 254992 chr13 61987239 61987239 C G rs746273020 PCDH20 Synonymous SNV G331G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.367 254993 chr18 2909696 2909696 G A rs147900182 EMILIN2 Synonymous SNV P901P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.614 254994 chr18 21594939 21594939 C A TTC39C Nonsynonymous SNV A35D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 254995 chr9 127253418 127253418 C T rs747902623 NR5A1 Synonymous SNV A360A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.61 254996 chr9 127781407 127781407 T C SCAI Synonymous SNV Q229Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.956 254997 chr14 105996050 105996058 GCCGCCGCC - rs782722915 TMEM121 P297_P299del 0 0 0.003 0 0 0 0 1 0 0 0 0 254998 chr14 20841677 20841677 - CCAT TEP1 Frameshift insertion H2116Mfs*36 0 0 0.003 0 0 0 0 1 0 0 0 0 254999 chr14 23103345 23103345 G A OR6J1 Synonymous SNV T124T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.965 255000 chr14 24683784 24683784 G A rs572453234 MDP1, NEDD8-MDP1 Synonymous SNV A77A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 255001 chr14 25288285 25288285 G T STXBP6 Nonsynonymous SNV D189E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 255002 chr14 50734556 50734556 G T L2HGDH Nonsynonymous SNV P327T 0 0 0.003 0 0 0 0 1 0 0 0 0 29 255003 chr1 110146617 110146617 T C GNAT2 Nonsynonymous SNV K277R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 255004 chr14 53417220 53417220 G A rs147527926 FERMT2 Nonsynonymous SNV H23Y 0 0 0.007 0 0 0 0 2 0 0 0 0 13.99 255005 chr12 89985004 89985004 C A rs61736878 ATP2B1 Synonymous SNV S1140S 0.002 0.003 0.007 1 2 1 0.003 2 0 0 0 0 Benign 12.99 255006 chr9 2029196 2029196 G A rs10964470 SMARCA2 Synonymous SNV P58P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 7.711 255007 chr9 2039572 2039572 G A rs61736900 SMARCA2 Synonymous SNV G154G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.19 255008 chr12 91347881 91347881 C T rs78693339 CCER1 Synonymous SNV A213A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.79 255009 chr12 91347999 91347999 T C rs115451948 CCER1 Nonsynonymous SNV K174R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.406 255010 chr14 60113697 60113697 C T rs549666512 MIR5586 0 0 0.003 0 0 0 0 1 0 0 0 0 5.422 255011 chr9 27296664 27296664 T C rs748086839 EQTN Nonsynonymous SNV N50S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 255012 chr19 4702085 4702085 A G rs74793100 DPP9 Synonymous SNV P322P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 0.772 255013 chr1 11769435 11769435 G A rs747234942 DRAXIN Synonymous SNV A185A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 14.16 255014 chr14 65016720 65016720 A G rs147817006 PPP1R36 Nonsynonymous SNV Y2C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.687 255015 chr14 65878993 65878993 G A rs776399586 FUT8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.655 255016 chr19 13873535 13873535 G A rs764089924 CCDC130 Nonsynonymous SNV A137T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.652 255017 chr14 69806272 69806272 A T rs201555222 GALNT16 Nonsynonymous SNV M375L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 255018 chr9 137726993 137726993 C T rs753245063 COL5A1 Synonymous SNV D1771D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.35 255019 chr1 145438818 145438818 A G rs782203804 TXNIP Nonsynonymous SNV K6E 0 0.005 0 0 0 2 0 0 0 0 0 0 24 255020 chr9 5772978 5772978 A G rs139608846 RIC1 Nonsynonymous SNV N1257S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.25 255021 chr9 139390546 139390546 G A rs200893930 NOTCH1 Nonsynonymous SNV R2549C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 255022 chr9 139617483 139617483 A G rs200684972 DIPK1B Nonsynonymous SNV K185E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 255023 chr12 117657901 117657901 G A rs760907926 NOS1 Synonymous SNV G1047G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.349 255024 chr12 118636921 118636921 C T rs746101174 TAOK3 Nonsynonymous SNV E377K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 255025 chr19 50360170 50360170 G C PTOV1-AS2 0 0.005 0 0 0 2 0 0 0 0 0 0 1.572 255026 chr1 222717132 222717132 C T rs3811466 HHIPL2 Nonsynonymous SNV V241M 0.002 0 0 1 2 0 0.003 0 1 0 0 0 26.2 255027 chr14 92537354 92537354 - CTG ATXN3 A22_G23insA 0 0 0.003 0 0 0 0 1 0 0 0 0 255028 chr14 93264089 93264089 G A rs537022332 GOLGA5 Nonsynonymous SNV V103I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.644 255029 chr14 93408233 93408233 G A rs576809322 ITPK1 Synonymous SNV S187S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 255030 chr14 94697644 94697644 C T rs116524572 PPP4R4 Nonsynonymous SNV R89W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 255031 chr19 51379847 51379847 A - rs748801188 KLK2 S8Afs*27 0 0.003 0 0 0 1 0 0 0 0 0 0 255032 chr14 99183605 99183605 G - rs145344703 C14orf177 0 0 0.003 0 0 0 0 1 0 0 0 0 255033 chr19 1854472 1854472 G A rs927056896 KLF16 Nonsynonymous SNV P249S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 255034 chrX 100745320 100745320 G C rs61747522 ARMCX4 Nonsynonymous SNV A582P 0.001 0.005 0 2 1 2 0.005 0 0 1 0 1 24.2 255035 chrX 110437639 110437639 G C rs779740979 PAK3 Nonsynonymous SNV C368S 0 0 0 2 0 0 0.005 0 0 0 0 1 24.5 255036 chr10 13151168 13151168 C G rs758942502 OPTN Nonsynonymous SNV P16A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.545 255037 chr14 21550269 21550269 G A rs61750464 ARHGEF40 Nonsynonymous SNV R367Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.9 255038 chr19 52496314 52496314 C T rs200056760 ZNF615 Nonsynonymous SNV R677K 0 0.005 0 0 0 2 0 0 0 0 0 0 27.6 255039 chr10 14950686 14950686 A G rs199619187 DCLRE1C Synonymous SNV D485D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.005 255040 chr14 21794057 21794057 G A rs190490019 RPGRIP1 Nonsynonymous SNV R812Q 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.061 255041 chr15 29444015 29444015 G A rs373575314 FAM189A1 Synonymous SNV N184N 0.001 0 0.014 0 1 0 0 4 0 0 0 0 13.89 255042 chr15 37110140 37110140 G A rs931671521 CSNK1A1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.813 255043 chr15 40754186 40754186 T A BAHD1 Nonsynonymous SNV L502H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 255044 chr13 26106451 26106451 A C rs201689401 ATP8A2 Synonymous SNV T114T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.01 255045 chr19 34984423 34984423 C T rs767878763 WTIP Synonymous SNV Y309Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 255046 chr19 35625459 35625459 G A LGI4 Synonymous SNV G42G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.258 255047 chr17 26881992 26881992 T G rs368504220 PIGS Synonymous SNV L423L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 255048 chr15 43568715 43568715 T C rs148274809 TGM7 Nonsynonymous SNV N691D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.9 255049 chr15 44055327 44055327 C A rs762160189 PDIA3 Synonymous SNV A175A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.15 255050 chr15 44143386 44143386 A G rs143002550 WDR76 Synonymous SNV S314S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.181 255051 chr19 36278428 36278428 G T ARHGAP33 Synonymous SNV G851G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.696 255052 chr17 28758825 28758825 G T CPD Stop gain E438X 0.002 0 0 0 2 0 0 0 0 0 0 0 41 255053 chr17 32684610 32684610 T C rs1049770876 CCL13 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 255054 chr17 33456448 33456448 G C rs746857060 FNDC8 Nonsynonymous SNV W198S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 255055 chr17 33690443 33690443 G A rs892840336 SLFN11 Synonymous SNV L128L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.421 255056 chr15 54916024 54916024 C G UNC13C Synonymous SNV T2077T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.155 255057 chrX 70347830 70347830 C T rs753751305 MED12 Synonymous SNV I1023I 0 0 0 2 0 0 0.005 0 0 0 0 1 18 255058 chr15 55912346 55912346 C A PRTG Nonsynonymous SNV G1106V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 255059 chr10 102762486 102762486 G A rs772289024 LZTS2 Nonsynonymous SNV R64Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 255060 chr15 65369856 65369856 G A KBTBD13 Nonsynonymous SNV G235S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 255061 chr19 57722935 57722935 A G rs74613505 ZNF264 Nonsynonymous SNV E157G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.188 255062 chr17 39019510 39019510 A G rs370179526 KRT12 Nonsynonymous SNV L394P 0.001 0 0 0 1 0 0 0 0 0 0 0 30 255063 chr19 40882620 40882620 G A rs374352480 PLD3 Nonsynonymous SNV R375Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 255064 chr13 111154017 111154017 G C COL4A2 Nonsynonymous SNV E1255Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 255065 chr15 75013949 75013949 A G CYP1A1 Nonsynonymous SNV L312S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 255066 chr15 75042389 75042389 G A rs34067076 CYP1A2 Nonsynonymous SNV D104N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 255067 chr19 58823827 58823827 C T rs187330410 ERVK3-1, ZNF8-ERVK3-1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.9 255068 chr13 111279844 111279844 G A rs3742192 NAXD Nonsynonymous SNV V39I 0 0 0.01 1 0 0 0.003 3 0 0 0 0 22.7 255069 chr10 113920579 113920579 C T rs763151199 GPAM Synonymous SNV E514E 0.003 0 0 1 4 0 0.003 0 0 0 0 0 14.32 255070 chr19 59082525 59082525 G A rs148179129 MZF1 Nonsynonymous SNV R78C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 255071 chr19 42485768 42485768 C T rs34578730 ATP1A3 Synonymous SNV A452A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 255072 chr19 42793221 42793221 G A rs766826704 CIC Synonymous SNV Q371Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.422 255073 chr19 6850767 6850767 C A VAV1 Nonsynonymous SNV T717K 0 0.005 0 0 0 2 0 0 0 0 0 0 16.75 255074 chr10 118196354 118196354 A G rs770845391 PNLIPRP3 Nonsynonymous SNV I61V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.199 255075 chr10 121557139 121557139 G A rs138895463 INPP5F Synonymous SNV P345P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.922 255076 chr10 123325029 123325029 C T rs774193926 FGFR2 Nonsynonymous SNV R100K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 255077 chr10 124345866 124345867 GG - rs776957966 DMBT1 G574Pfs*2 0.002 0 0 2 2 0 0.005 0 0 0 0 0 255078 chr10 124345868 124345868 - AG rs745994628 DMBT1 Frameshift insertion H575Sfs*19 0.002 0 0 2 2 0 0.005 0 0 0 0 0 255079 chr10 124345871 124345871 T C rs367868701 DMBT1 Synonymous SNV H575H 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.003 255080 chr15 90766876 90766876 G A SEMA4B Nonsynonymous SNV G160D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 255081 chr2 46851304 46851304 A G rs373555322 CRIPT Nonsynonymous SNV I82V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 255082 chr2 47317412 47317412 A G rs115340807 STPG4 Synonymous SNV C207C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.422 255083 chr2 47389470 47389470 T A rs77653008 CALM2 Synonymous SNV T44T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.621 255084 chr2 48026308 48026308 C G rs2020908 MSH6 Nonsynonymous SNV L266V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 11.16 255085 chr15 91184486 91184486 G A CRTC3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.128 255086 chr10 129908675 129908677 CTC - MKI67 G434del 0 0 0 1 0 0 0.003 0 0 0 0 0 255087 chr17 4644275 4644275 C T rs199841852 ZMYND15 Synonymous SNV D144D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.032 255088 chr19 9046223 9046223 G A rs764015949 MUC16 Nonsynonymous SNV T11803I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 3.014 255089 chr16 14720984 14720984 T C rs774805226 PARN Synonymous SNV P56P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.168 255090 chr16 15130116 15130116 C T rs146871979 PDXDC1 Nonsynonymous SNV P757L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.898 255091 chr19 4816598 4816598 C A rs150224968 TICAM1 Nonsynonymous SNV G598W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 24.5 255092 chr10 26377297 26377297 T C rs150793986 MYO3A Nonsynonymous SNV Y509H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 27.4 255093 chr1 102296264 102296264 T C rs772516491 OLFM3 Synonymous SNV E132E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.616 255094 chr17 61561231 61561231 G T ACE Synonymous SNV L536L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.348 255095 chr16 24902285 24902285 C T rs374864110 SLC5A11 Nonsynonymous SNV R184W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 255096 chr10 35897387 35897387 C T rs370286081 GJD4 Stop gain R316X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 255097 chr1 226173027 226173027 C T SDE2 Synonymous SNV K444K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.77 255098 chr16 30389020 30389020 G A MYLPF Synonymous SNV E134E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.462 255099 chr19 51628371 51628371 C T SIGLEC9 Nonsynonymous SNV S47L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 255100 chr2 106498184 106498184 C T NCK2 Synonymous SNV V209V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.31 255101 chr16 31104147 31104147 T G rs754553399 VKORC1 Nonsynonymous SNV Q108H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.716 255102 chr19 51857626 51857626 C T rs139990490 ETFB Synonymous SNV A89A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.05 255103 chr16 31579894 31579894 A G rs193104475 YBX3P1 0 0 0.007 0 0 0 0 2 0 0 0 0 11.72 255104 chr19 52403500 52403500 C - rs574837286 ZNF649-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 255105 chr1 115828934 115828934 T C rs748481624 NGF Synonymous SNV G161G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.103 255106 chr16 3350341 3350341 G A rs748449239 TIGD7 Nonsynonymous SNV R92C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 255107 chr19 52942391 52942391 A C rs529292407 ZNF534 Nonsynonymous SNV S532R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 255108 chr19 52620262 52620262 C G rs142794685 ZNF616 Nonsynonymous SNV C52S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 255109 chr11 640099 640099 - CCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG DRD4 Frameshift insertion S284Tfs*74 0.003 0 0 0 4 0 0 0 2 0 0 0 255110 chr1 1356330 1356330 C T rs200093521 ANKRD65 Nonsynonymous SNV R19Q 0 0.005 0 0 0 2 0 0 0 0 0 0 9.534 255111 chr1 237813202 237813202 C T RYR2 Nonsynonymous SNV A2513V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 255112 chr1 240071991 240071991 G A rs145638222 CHRM3 Nonsynonymous SNV V414M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.015 255113 chr1 144931385 144931385 G T rs782527876 PDE4DIP Synonymous SNV I108I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.569 255114 chr1 241834471 241834471 A G WDR64 Synonymous SNV L124L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.072 255115 chr17 73753036 73753036 C T rs750367954 ITGB4 Nonsynonymous SNV A1672V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 255116 chr10 72289056 72289056 C T rs371124402 PALD1 Nonsynonymous SNV S86L 0.003 0 0 1 4 0 0.003 0 0 0 0 0 24.1 255117 chr16 67005097 67005097 C G CES3 Nonsynonymous SNV P28R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.909 255118 chr16 67576024 67576024 T G rs148039352 RIPOR1 Nonsynonymous SNV S449R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 255119 chr1 151020798 151020798 G A rs746719165 C1orf56 Nonsynonymous SNV G159R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 255120 chr1 247320105 247320105 G A rs33998996 ZNF124 Synonymous SNV Y273Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.199 255121 chr10 73822820 73822820 C T rs368125228 SPOCK2 Synonymous SNV E364E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 255122 chr1 247655110 247655110 G C OR2W5 Nonsynonymous SNV E227D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.114 255123 chr16 70429006 70429006 C T rs774454666 ST3GAL2 Nonsynonymous SNV E138K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 255124 chr2 160284852 160284852 C T rs370760889 BAZ2B Synonymous SNV K715K 0 0 0 2 0 0 0.005 0 0 0 0 0 12.55 255125 chr16 707778 707778 G A rs376599074 WDR90 Synonymous SNV P830P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.16 255126 chr1 27120741 27120741 G C rs766623579 PIGV Nonsynonymous SNV L72F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 255127 chr1 28208952 28208952 C T rs535519556 THEMIS2 Nonsynonymous SNV R373W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 30 255128 chr19 5783775 5783775 C G rs757676760 PRR22 Synonymous SNV G161G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.666 255129 chr16 85701910 85701910 C T rs370924725 GSE1 Nonsynonymous SNV R995W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 255130 chr1 31883259 31883259 G A rs12073770 SERINC2 Nonsynonymous SNV E10K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.156 255131 chr16 88498350 88498350 C T rs375045076 ZNF469 Nonsynonymous SNV T1491M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.95 255132 chr15 93016193 93016193 G A rs374399765 C15orf32 0.002 0.005 0 0 2 2 0 0 0 0 0 0 1.344 255133 chr19 6760903 6760903 G A SH2D3A Synonymous SNV G55G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.069 255134 chr1 36638206 36638206 G A rs148608573 MAP7D1 Nonsynonymous SNV R201Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 255135 chr17 8273456 8273456 C T rs200814100 KRBA2 Nonsynonymous SNV A77T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 255136 chr19 7547045 7547045 T C rs201696349 PEX11G Nonsynonymous SNV Q101R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 255137 chr16 89351692 89351692 C T rs147180412 ANKRD11 Nonsynonymous SNV V420M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.461 255138 chr19 7621550 7621550 C T PNPLA6 Synonymous SNV L1074L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.08 255139 chr11 101849078 101849078 G A rs146666593 CEP126 Nonsynonymous SNV G949E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.868 255140 chr1 16269166 16269166 G A rs758904328 ZBTB17 Synonymous SNV H550H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.979 255141 chr19 814533 814533 G A rs201523213 PLPPR3 Synonymous SNV A272A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.597 255142 chr18 19080547 19080547 G A rs368919544 GREB1L Nonsynonymous SNV R1339H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 255143 chr11 102822745 102822745 G C rs141127894 MMP13 Synonymous SNV L265L 0 0 0 2 0 0 0.005 0 0 0 0 0 1.584 255144 chr19 8495733 8495733 C T rs146337637 MARCHF2 Synonymous SNV I188I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 255145 chr1 42925543 42925543 G A PPCS Synonymous SNV K121K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.46 255146 chr1 43215940 43215940 C T rs758596191 P3H1 Nonsynonymous SNV R546Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 255147 chr1 43240963 43240963 T G rs372499115 C1orf50 Nonsynonymous SNV I166M 0 0.003 0 0 0 1 0 0 0 0 0 0 21 255148 chr17 11666834 11666834 C T rs568542419 DNAH9 Nonsynonymous SNV T2358M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.03 255149 chr19 875251 875251 G A rs141601240 MED16 Synonymous SNV T588T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.71 255150 chr1 45294693 45294693 C T rs35851686 PTCH2 Synonymous SNV A475A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.38 255151 chr1 17316703 17316703 G A rs144708504 ATP13A2 Synonymous SNV H772H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 255152 chr17 16843779 16843779 G C rs72553882 TNFRSF13B Stop gain Y164X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 37 255153 chr1 47133822 47133822 C G rs958610117 ATPAF1 Nonsynonymous SNV G81A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.133 255154 chr18 44435360 44435360 T C PIAS2 Nonsynonymous SNV N225S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 255155 chr16 2814730 2814730 A C rs779722863 SRRM2 Nonsynonymous SNV S1401R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 8.593 255156 chr17 27027500 27027500 C T rs771684139 SUPT6H Synonymous SNV G1592G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 255157 chr1 65210992 65210992 - CGCCGCGCTGCACCCTGAGGAGGT rs758287229 RAVER2 A56_R57insLHPEEVAA 0 0.003 0 0 0 1 0 0 0 0 0 0 255158 chr16 3142913 3142913 G A ZSCAN10 Nonsynonymous SNV A9V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 2.089 255159 chr18 74083450 74083450 G T ZNF516 Nonsynonymous SNV H1112Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 255160 chr18 78005203 78005203 G A rs756573677 PARD6G Nonsynonymous SNV T10I 0.004 0 0 0 5 0 0 0 0 0 0 0 17.81 255161 chr17 34854939 34854939 G A MYO19 Nonsynonymous SNV R615C 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 255162 chr17 35512625 35512625 C A ACACA Synonymous SNV V1714V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.19 255163 chr11 1251775 1251775 C T rs546308873 MUC5B Nonsynonymous SNV T472M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 255164 chr19 1003606 1003606 C T rs61744435 GRIN3B Nonsynonymous SNV R302W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.8 255165 chr17 38640763 38640763 C T TNS4 Nonsynonymous SNV V492I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15 255166 chr17 38712044 38712044 C T rs140039442 CCR7 Synonymous SNV T23T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 255167 chr11 44331595 44331595 G C rs764539399 ALX4 Nonsynonymous SNV C6W 0.003 0 0 0 3 0 0 0 0 0 0 0 28.9 255168 chr1 203743575 203743575 C T rs201846348 LAX1 Synonymous SNV V305V 0 0.005 0 0 0 2 0 0 0 0 0 0 11.27 255169 chr1 205039045 205039045 G A CNTN2 Nonsynonymous SNV V763M 0 0.005 0 0 0 2 0 0 0 0 0 0 27.1 255170 chr1 147083651 147083651 C A rs782589783 BCL9 Nonsynonymous SNV P6T 0.003 0 0 0 3 0 0 0 0 0 0 0 30 255171 chr1 152275827 152275827 G A rs564072147 FLG Synonymous SNV S3845S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.82 255172 chr17 41456528 41456528 G A rs148314763 LINC00910 0 0 0.007 0 0 0 0 2 0 0 0 0 8.171 255173 chr1 215847857 215847857 G A rs138398671 USH2A Nonsynonymous SNV P4466S 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 11.43 255174 chr17 41856206 41856206 G A rs1024585741 DUSP3 Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 255175 chr11 3141754 3141754 G A rs372071423 OSBPL5 Nonsynonymous SNV T168M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 255176 chr1 153066067 153066067 C T rs75229137 SPRR2E Nonsynonymous SNV C54Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.736 255177 chr1 154987391 154987391 G A rs144677661 ZBTB7B Synonymous SNV G85G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 255178 chr17 48844263 48844263 C T rs777438547 ANKRD40CL Synonymous SNV P4P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.56 255179 chr1 156552057 156552057 C T rs373820858 TTC24 Synonymous SNV S247S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 255180 chr1 22848075 22848075 A G rs573887941 ZBTB40 Synonymous SNV S933S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.037 255181 chr17 56271164 56271164 C T rs144765797 EPX Nonsynonymous SNV R146C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 255182 chr17 56283520 56283520 G A rs772719574 MKS1 Stop gain R331X 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 42 255183 chr1 158057840 158057840 G A rs148744748 KIRREL1 Nonsynonymous SNV R171H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 255184 chr17 61497780 61497780 A G rs200208895 TANC2 Synonymous SNV R1479R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.068 255185 chr3 46450001 46450001 G A rs375800723 CCRL2 Nonsynonymous SNV R156K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.008 255186 chr16 23119391 23119391 C T USP31 Synonymous SNV K249K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.56 255187 chr1 160920854 160920854 C T rs200656541 ITLN2 Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 255188 chr1 161683104 161683104 G T FCRLA Synonymous SNV L103L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 255189 chr17 71375663 71375663 C T rs776562618 SDK2 Synonymous SNV E1596E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 255190 chr1 171621248 171621248 C T rs767058394 MYOC Synonymous SNV R168R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 255191 chr16 30036532 30036532 G A rs1042496176 TLCD3B Nonsynonymous SNV P216L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.26 255192 chr11 4903565 4903565 A G rs138974420 OR51T1 Nonsynonymous SNV I146V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 255193 chr1 167095160 167095160 T A DUSP27 Nonsynonymous SNV N264K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 255194 chr1 169446447 169446447 C A rs202049979 SLC19A2 Nonsynonymous SNV E251D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.76 255195 chr17 72999533 72999533 G A CDR2L Synonymous SNV L254L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.131 255196 chr17 7340502 7340502 G A rs1007469676 TMEM102 Nonsynonymous SNV A402T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 255197 chr17 73498390 73498390 G A rs532983666 CASKIN2 Nonsynonymous SNV P840L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.629 255198 chr1 183938468 183938468 G C rs779082349 COLGALT2 Nonsynonymous SNV P256R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 255199 chr17 7758587 7758587 C T rs750992347 TMEM88 Synonymous SNV F65F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.964 255200 chr17 78155443 78155443 G A rs369726105 CARD14 Nonsynonymous SNV R69Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 255201 chr17 78857636 78857636 C T RPTOR Nonsynonymous SNV P569L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 255202 chr17 79170832 79170832 C T rs200266726 CEP131 Synonymous SNV P557P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.53 255203 chr1 32202229 32202229 G A rs777481824 ADGRB2 Synonymous SNV V1025V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.46 255204 chr1 32266077 32266077 T C rs975961076 SPOCD1 Nonsynonymous SNV K16E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 255205 chr20 6751003 6751003 C G rs151071707 BMP2 Nonsynonymous SNV P77R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 255206 chr17 79205475 79205475 G A rs763595844 TEPSIN Synonymous SNV L240L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.473 255207 chr11 74419405 74419405 G A rs532780157 CHRDL2 Synonymous SNV P91P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 255208 chr19 42797278 42797278 C G rs968289754 CIC Nonsynonymous SNV R1214G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 255209 chr17 8076781 8076781 G A rs144429028 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 9.37 255210 chr17 81042913 81042913 C T rs745598135 METRNL Synonymous SNV I90I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 255211 chr18 12464867 12464867 T C rs200544551 SPIRE1 Nonsynonymous SNV K365E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.487 255212 chr21 46603416 46603416 A G rs758704261 ADARB1 Nonsynonymous SNV I512V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 0.089 255213 chr21 46876560 46876560 G A rs778431938 COL18A1 Synonymous SNV A372A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.66 255214 chr11 62559384 62559384 G T rs190257933 TMEM223 Nonsynonymous SNV T28K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.431 255215 chr11 62748855 62748855 C A SLC22A6 Nonsynonymous SNV W266C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 255216 chr22 19502504 19502504 T C rs761547116 CDC45 Nonsynonymous SNV M412T 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.008 255217 chr3 168819908 168819908 G A rs1056574492 MECOM Nonsynonymous SNV A708V 0 0 0 2 0 0 0.005 0 0 0 0 0 19.08 255218 chr19 50203959 50203959 G A CPT1C Synonymous SNV G100G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.301 255219 chr1 22987660 22987660 C T rs146413025 C1QB Synonymous SNV C181C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.828 255220 chr3 183963336 183963336 G A rs763104840 ALG3 Nonsynonymous SNV R74C 0 0 0 3 0 0 0.008 0 0 0 0 0 34 255221 chr19 1004850 1004852 CAA - rs780253391 GRIN3B N451del 0 0 0.003 0 0 0 0 1 0 0 0 0 255222 chr11 6554959 6554959 T C DNHD1 Nonsynonymous SNV Y852H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.45 255223 chr19 10397720 10397720 T G rs773884984 ICAM4 Nonsynonymous SNV F11C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 255224 chr3 193042708 193042708 T C ATP13A5 Nonsynonymous SNV N540S 0 0 0 2 0 0 0.005 0 0 0 0 0 15.64 255225 chr1 237947717 237947717 C T rs373606009 RYR2 Synonymous SNV F4235F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.788 255226 chr1 874817 874817 C T rs201898716 SAMD11 Nonsynonymous SNV P228L 0 0.005 0 0 0 2 0 0 0 0 0 0 10.33 255227 chr19 10823868 10823868 C A rs775115458 QTRT1 Synonymous SNV G378G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 255228 chr12 2981305 2981305 A G rs142971862 FOXM1 Nonsynonymous SNV M203T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.825 255229 chr19 11304129 11304129 G T rs778525548 KANK2 Synonymous SNV I209I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.926 255230 chr19 11453771 11453771 G A rs201767859 TMEM205 Nonsynonymous SNV T97M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.246 255231 chr19 11493887 11493887 C T rs45516306 EPOR Nonsynonymous SNV G46E 0 0 0.017 0 0 0 0 5 0 0 0 0 Benign 0.063 255232 chr19 12786451 12786453 GAG - rs748291724 WDR83 E306del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 255233 chr19 13323321 13323321 G A rs886043571 CACNA1A Synonymous SNV S2023S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.49 255234 chr17 62078606 62078606 T G rs376582987 PRR29 Nonsynonymous SNV C136G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 255235 chr19 54760625 54760625 T G LILRB5 Nonsynonymous SNV K28Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 255236 chr20 10630174 10630174 G A rs754081766 JAG1 Synonymous SNV D448D 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 9.945 255237 chr20 18142674 18142674 G A rs749084134 KAT14 Nonsynonymous SNV R298H 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 255238 chr19 17452399 17452399 C T rs61730224 GTPBP3 Synonymous SNV L488L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 14.3 255239 chr1 28600651 28600651 C A rs113713521 SESN2 Synonymous SNV P334P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 255240 chr22 50563997 50563997 A G rs758568958 MOV10L1 Synonymous SNV A582A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.503 255241 chr19 18329785 18329785 G A rs11879710 PDE4C Nonsynonymous SNV R113W 0 0 0.007 0 0 0 0 2 0 0 0 0 32 255242 chr19 18375833 18375833 G A rs145327476 IQCN Synonymous SNV T839T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.506 255243 chr11 87908502 87908502 G T rs36074402 RAB38 Nonsynonymous SNV D17E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 255244 chr20 22563674 22563674 A G rs993045413 FOXA2 Nonsynonymous SNV M69T 0 0.005 0 0 0 2 0 0 0 0 0 0 22.6 255245 chr19 18547265 18547265 G C ISYNA1 Nonsynonymous SNV R84G 0 0 0.003 0 0 0 0 1 0 0 0 0 28 255246 chr12 18573949 18573949 A T PIK3C2G Nonsynonymous SNV Y756F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.41 255247 chr12 22624906 22624906 G C C2CD5 Nonsynonymous SNV L755V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 255248 chr11 94823324 94823324 A T ENDOD1 Nonsynonymous SNV Y78F 0 0 0 2 0 0 0.005 0 0 0 0 0 7.142 255249 chr12 100598818 100598818 A G rs149793338 ACTR6 Nonsynonymous SNV I57V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 255250 chr12 104048470 104048470 C G rs146195530 STAB2 Nonsynonymous SNV N515K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.19 255251 chr12 104060131 104060131 A G STAB2 Synonymous SNV T695T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.197 255252 chr1 41978815 41978815 C A rs201105196 HIVEP3 Nonsynonymous SNV C2026F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 255253 chr1 38155319 38155319 C T rs61731880 C1orf109 Synonymous SNV L140L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.954 255254 chr12 109947462 109947462 A G UBE3B Nonsynonymous SNV T562A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 255255 chr1 49208340 49208340 G C rs146041042 BEND5 Synonymous SNV P114P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 255256 chr19 38384997 38384997 A T WDR87 Stop gain L449X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 255257 chr1 53544371 53544371 C T rs762037705 PODN Nonsynonymous SNV R397C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 255258 chr20 49367014 49367014 A G rs184193885 PARD6B Nonsynonymous SNV I370V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 255259 chr19 4268632 4268632 C T rs150454363 YJU2 Nonsynonymous SNV A304V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 255260 chr12 130963558 130963558 T C rs768560603 RIMBP2 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 255261 chr12 132547088 132547090 CAA - rs773796122 EP400 Q2748del 0 0 0 1 0 0 0.003 0 0 0 0 0 255262 chr12 132593197 132593197 G A rs774105217 EP400P1 0 0 0 1 0 0 0.003 0 0 0 0 0 9.384 255263 chr1 71512477 71512477 C T rs202141976 PTGER3 Nonsynonymous SNV A262T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 255264 chr4 106196819 106196819 G T rs142312318 TET2 Nonsynonymous SNV V1718L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 0.005 255265 chr2 179416782 179416782 G A rs756769026 TTN Nonsynonymous SNV T21217M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 255266 chr2 179435825 179435825 G A rs368914555 TTN Nonsynonymous SNV R15947W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21 255267 chr2 179611900 179611900 G A rs201137248 TTN Nonsynonymous SNV P5076L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.96 255268 chr19 45852123 45852123 G A rs373683799 KLC3 Nonsynonymous SNV G305R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 255269 chr2 180810242 180810242 T C rs367815566 CWC22 Nonsynonymous SNV I781V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.003 255270 chr19 46025435 46025435 C T rs180948966 VASP Synonymous SNV P146P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 255271 chr18 44089771 44089771 G A rs377421822 LOXHD1 Nonsynonymous SNV R42W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 34 255272 chr19 46308068 46308068 G A rs777003058 RSPH6A Synonymous SNV G365G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 255273 chr18 44109147 44109147 C T rs199518750 LOXHD1 Nonsynonymous SNV R301K 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.82 255274 chr1 85040007 85040007 - GCAGCGCCA CTBS L33_R34insLAL 0.002 0.005 0 0 2 2 0 0 0 0 0 0 255275 chr18 45566525 45566525 C T rs779356155 ZBTB7C Synonymous SNV P318P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.565 255276 chr19 4683633 4683633 C T rs762881092 DPP9 Synonymous SNV V729V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 255277 chr1 89662971 89662971 T C rs149875292 GBP4 Synonymous SNV E19E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.7 255278 chr19 4769755 4769755 G C rs114145113 MIR7-3HG 0 0 0.003 0 0 0 0 1 0 0 0 0 6.151 255279 chr19 49242674 49242674 C T rs771794025 RASIP1 Synonymous SNV K122K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 255280 chr19 49259511 49259511 C T rs200052141 FGF21 Synonymous SNV T6T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 255281 chr20 13765878 13765879 AG - rs758513858 NDUFAF5 K56Efs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 255282 chr19 51170370 51170370 G T rs144762908 SHANK1 Nonsynonymous SNV T1616N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.97 255283 chr19 51670671 51670685 CTGCTGCCGCTGCCC - rs768507785 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 255284 chr1 150525555 150525555 G A rs199599791 ADAMTSL4 Nonsynonymous SNV R87Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 255285 chr19 52084729 52084729 G C rs200667551 ZNF175 Nonsynonymous SNV R53P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 255286 chr2 219114570 219114570 G A rs140683425 ARPC2 Synonymous SNV A268A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 16.17 255287 chr2 219294332 219294332 C T rs150029516 VIL1 Synonymous SNV S261S 0 0.005 0 0 0 2 0 0 0 0 0 0 9.111 255288 chr2 219301936 219301936 C T rs142494846 VIL1 Synonymous SNV S687S 0 0.005 0 0 0 2 0 0 0 0 0 0 16.47 255289 chr21 47642626 47642626 G A rs139003098 LSS Nonsynonymous SNV R36C 0 0.005 0 0 0 2 0 0 0 0 0 0 23.5 255290 chr2 219544348 219544348 C G rs567022277 STK36 Nonsynonymous SNV Q282E 0 0.005 0 0 0 2 0 0 0 0 0 0 23.5 255291 chr12 53073545 53073545 G A rs370368914 KRT1 Synonymous SNV D196D 0 0 0 2 0 0 0.005 0 0 0 0 0 7.749 255292 chr20 2841621 2841621 C T rs138844276 VPS16 Synonymous SNV P212P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 255293 chr20 307141 307141 G C SOX12 Synonymous SNV P191P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.09 255294 chr1 154898894 154898894 C T rs137902262 PMVK Synonymous SNV T112T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 255295 chr2 220440183 220440183 G C rs780833794 INHA Nonsynonymous SNV G346R 0 0.005 0 0 0 2 0 0 0 0 0 0 29.9 255296 chr20 3675344 3675344 C T rs766203030 SIGLEC1 Synonymous SNV T970T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 255297 chr22 24210705 24210705 G A rs569477943 SLC2A11 Nonsynonymous SNV R53H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 255298 chr20 3842923 3842923 C T rs141567699 MAVS Nonsynonymous SNV T22M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.419 255299 chr20 36939032 36939032 C G BPI Nonsynonymous SNV H172D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 255300 chr20 4202315 4202315 C G rs150684653 ADRA1D Nonsynonymous SNV G525A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 255301 chr19 56515380 56515380 C G NLRP5 Nonsynonymous SNV L121V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 255302 chr19 56888323 56888323 C T rs536464742 ZNF542P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.535 255303 chr22 28194910 28194912 TGT - rs757115560 MN1 Q550del 0.003 0.003 0 0 4 1 0 0 0 0 0 0 255304 chr22 28194930 28194930 C T rs868200255 MN1 Synonymous SNV Q534Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.036 255305 chr20 44045316 44045316 T A rs534024741 PIGT Nonsynonymous SNV F116Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 31 255306 chr12 66245431 66245432 CT - HMGA2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 255307 chr18 28712619 28712619 T C rs375506862 DSC1 Nonsynonymous SNV K717R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.4 255308 chr19 58639585 58639585 C T ZNF329 Nonsynonymous SNV C429Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 255309 chr20 48156226 48156226 G C rs750488194 PTGIS Nonsynonymous SNV A185G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 255310 chr20 5159517 5159517 C T rs200304958 CDS2 Synonymous SNV Y148Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.25 255311 chr19 59083268 59083268 G A rs77537775 MZF1-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 4.629 255312 chr19 59093603 59093603 - AAAAAAAAA rs369287408 CENPBD1P1 0 0 0.01 0 0 0 0 3 0 0 1 0 255313 chr19 643443 643443 C T rs750445158 FGF22 Nonsynonymous SNV A110V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 255314 chr2 27746215 27746215 C T GCKR Nonsynonymous SNV S596F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 255315 chr19 8032494 8032494 G A rs370407808 ELAVL1 Nonsynonymous SNV A204V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 255316 chr19 8154810 8154810 C A FBN3 Nonsynonymous SNV G2073V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 255317 chr12 9307282 9307282 G T PZP Nonsynonymous SNV T1235N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.63 255318 chr5 79465186 79465186 C T rs370591654 SERINC5 Synonymous SNV L245L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.413 255319 chr19 8387768 8387768 A T rs775205855 KANK3 Synonymous SNV G807G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 255320 chr1 170633482 170633482 C T PRRX1 Synonymous SNV D41D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.58 255321 chr13 103402232 103402232 T A CCDC168 Nonsynonymous SNV Q272L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.544 255322 chr20 6758933 6758933 C G BMP2 Nonsynonymous SNV R130G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 255323 chr13 103525619 103525619 C T rs574826021 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R964W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 35 255324 chr21 17163908 17163908 T C rs569413171 USP25 Synonymous SNV D160D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.907 255325 chr19 9072205 9072205 C T rs748797589 MUC16 Nonsynonymous SNV D5081N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.669 255326 chr2 46609143 46609143 T C EPAS1 Synonymous SNV H734H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 255327 chr2 48026640 48026640 T C rs775497704 MSH6 Synonymous SNV D376D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.02 255328 chr19 731213 731213 C T rs746327383 PALM Nonsynonymous SNV R130C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 255329 chr2 49195984 49195984 T C rs748152489 FSHR Nonsynonymous SNV Y210C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.46 255330 chr13 114618905 114618905 C T LINC00452 0 0 0 1 0 0 0.003 0 0 0 0 0 4.05 255331 chr13 114622581 114622581 G A rs997336660 LINC00452 0 0 0 1 0 0 0.003 0 0 0 0 0 2.489 255332 chr19 966676 966676 G A ARID3A Nonsynonymous SNV A435T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 255333 chr19 9737496 9737496 G A rs531980681 ZNF561-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.003 255334 chr1 186277304 186277327 CTGCTCCAACTACACCTAAGGAGA - rs775336950 PRG4 T692_E699del 0.001 0 0 0 1 0 0 0 0 0 0 0 255335 chr1 1026305 1026305 G - C1orf159 P44Qfs*84 0 0 0.003 0 0 0 0 1 0 0 0 0 255336 chr1 104113147 104113147 A G rs138520891 ACTG1P4 0 0 0.003 0 0 0 0 1 0 0 0 0 8.955 255337 chr1 109256135 109256135 T C rs11102279 FNDC7 Synonymous SNV V22V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 255338 chr1 109260508 109260508 C T rs79836484 FNDC7 Synonymous SNV D64D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.373 255339 chr21 38115703 38115703 G A rs369519991 SIM2 Synonymous SNV K338K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 255340 chr1 197057486 197057486 C T rs537930821 ASPM Nonsynonymous SNV R1769Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.79 255341 chr13 31725128 31725128 G A rs144091980 HSPH1 Synonymous SNV I212I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.495 255342 chr1 1115430 1115430 G A rs756766533 TTLL10 Synonymous SNV R72R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.41 255343 chr21 44119084 44119084 G A rs78479041 PDE9A Nonsynonymous SNV V26I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.73 255344 chr2 113763555 113763555 G C rs764837494 IL36A Nonsynonymous SNV L5F 0 0.005 0.003 0 0 2 0 1 0 0 0 0 2.36 255345 chr2 75745243 75745243 G A EVA1A Synonymous SNV S8S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.332 255346 chr21 45557167 45557167 G A rs375234113 GATD3A, GATD3B Synonymous SNV A53A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11 255347 chr21 45671536 45671536 G T rs376786065 DNMT3L Nonsynonymous SNV P247T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.011 255348 chr1 114696380 114696380 C T SYT6 Stop gain W5X 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 255349 chr2 119727706 119727706 G A rs142489484 MARCO Synonymous SNV A72A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.13 255350 chr1 11561813 11561813 G T rs761509343 DISP3 Nonsynonymous SNV R255L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 255351 chr19 5645405 5645405 T C SAFB Synonymous SNV L45L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.386 255352 chr3 101451429 101451429 G A rs769086256 CEP97 Nonsynonymous SNV R220Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 255353 chr1 1391207 1391208 AT - rs777706185 ATAD3C M159Dfs*63 0 0 0.003 0 0 0 0 1 0 0 0 0 255354 chr1 1391209 1391209 - CA rs746781294 ATAD3C Frameshift insertion T160Qfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 255355 chr1 1391220 1391220 T C rs775091733 ATAD3C Nonsynonymous SNV I163T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.145 255356 chr1 209605648 209605648 - AGCAGC MIR205HG 0.002 0 0 0 2 0 0 0 0 0 0 0 255357 chr1 145440096 145440096 G A rs6674773 TXNIP Nonsynonymous SNV R122Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.98 255358 chr3 108474644 108474644 C T rs370708969 RETNLB Nonsynonymous SNV R106H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 255359 chr1 149885355 149885355 C T rs141056600 SV2A Nonsynonymous SNV R13H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 255360 chr3 112736359 112736359 C T NEPRO Nonsynonymous SNV C66Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 255361 chr22 25270520 25270520 C T rs145626737 SGSM1 Nonsynonymous SNV T477M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 255362 chr1 152327047 152327047 C T rs767452601 FLG2 Nonsynonymous SNV R1072H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 255363 chr2 169313117 169313117 C T rs73016573 CERS6 Synonymous SNV L53L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.63 255364 chr3 119911838 119911838 T C GPR156 Nonsynonymous SNV K141R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 26.8 255365 chr22 30197042 30197042 A C ASCC2 Nonsynonymous SNV N364K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.35 255366 chr1 155179063 155179063 G C MTX1 Synonymous SNV L156L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 255367 chr1 225555679 225555679 A G rs74149905 DNAH14 Nonsynonymous SNV N4088S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.029 255368 chr2 174094456 174094456 G A rs573728560 MAP3K20 Nonsynonymous SNV D343N 0 0.003 0 0 0 1 0 0 0 0 0 0 27 255369 chr1 225592184 225592184 A C rs80299691 LBR Nonsynonymous SNV S537A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 25.3 255370 chr1 155911677 155911677 G A RXFP4 Synonymous SNV A59A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.844 255371 chr1 156264601 156264601 C T GLMP Nonsynonymous SNV M109I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 255372 chr1 15656084 15656084 C T rs201074197 LOC101927417 0 0 0.003 0 0 0 0 1 0 0 0 0 8.471 255373 chr22 31844146 31844146 G T EIF4ENIF1 Nonsynonymous SNV T439K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 255374 chr2 179414003 179414003 C A rs979303656 TTN Nonsynonymous SNV G21719C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 255375 chr1 160141475 160141475 C G rs771931983 ATP1A4 Synonymous SNV L594L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 255376 chr1 16064450 16064450 A G rs58307910 SLC25A34 Synonymous SNV T135T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 255377 chr1 16064670 16064670 G A rs116717339 SLC25A34 Nonsynonymous SNV R176Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 255378 chr1 16065136 16065136 C G rs62621224 SLC25A34 Nonsynonymous SNV I215M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.194 255379 chr3 130712860 130712860 G A ATP2C1 Nonsynonymous SNV V654I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.465 255380 chr3 130881325 130881325 C T rs758575840 NEK11 Nonsynonymous SNV R241W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.12 255381 chr1 235897831 235897831 G A rs144597913 LYST Synonymous SNV I2829I 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.92 255382 chr2 196801489 196801489 T C DNAH7 Nonsynonymous SNV I1036V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.402 255383 chr1 17296793 17296793 G A rs79559162 CROCC Nonsynonymous SNV V1833I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.034 255384 chr1 17302173 17302173 A C rs79009833 MFAP2 Synonymous SNV P112P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 255385 chr1 173930221 173930221 C T rs767287361 RC3H1 Synonymous SNV P788P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 255386 chr14 54878332 54878332 C T rs148435420 CDKN3 Synonymous SNV I68I 0 0 0 2 0 0 0.005 0 0 0 0 0 19.18 255387 chr1 178269164 178269164 C G rs779553849 RASAL2 Nonsynonymous SNV S123C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 255388 chr1 247719758 247719758 G A rs925857096 GCSAML Nonsynonymous SNV E27K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 255389 chr2 216931192 216931192 C T rs376513175 PECR Synonymous SNV A58A 0 0.005 0 0 0 2 0 0 0 0 0 0 13.5 255390 chr1 183602247 183602247 G A ARPC5 Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 255391 chr1 184692924 184692924 C G rs528899420 EDEM3 Nonsynonymous SNV V272L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 255392 chr1 19644220 19644220 G A rs754468011 SLC66A1 Nonsynonymous SNV G17S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.9 255393 chr1 200574499 200574499 T C rs144267058 KIF14 Nonsynonymous SNV N62S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 23.1 255394 chr1 201022637 201022637 G A rs762394267 CACNA1S Nonsynonymous SNV R1249W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 255395 chr2 228563818 228563818 T C rs199558186 SLC19A3 Nonsynonymous SNV R205G 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.677 255396 chr2 12858702 12858702 A G rs781377123 TRIB2 Nonsynonymous SNV K90R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 255397 chr1 3431130 3431130 G A rs749669401 MEGF6 Synonymous SNV D279D 0.002 0 0 0 2 0 0 0 0 0 0 0 3.479 255398 chr2 131099754 131099754 C T rs757419653 CCDC115 Nonsynonymous SNV A17T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.26 255399 chr19 5590344 5590344 C A rs140108933 SAFB2 Nonsynonymous SNV G824C 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24.5 255400 chr2 238273041 238273041 C T rs554219567 COL6A3 Nonsynonymous SNV G1350R 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 26.3 255401 chr19 39944022 39944022 G T SUPT5H Synonymous SNV A34A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.13 255402 chr2 163128828 163128828 C T rs79324540 IFIH1 Nonsynonymous SNV E842K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 255403 chr1 21943889 21943889 G A rs149556293 RAP1GAP Synonymous SNV P131P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 255404 chr2 242814185 242814185 C A RTP5 Nonsynonymous SNV P160T 0 0.005 0 0 0 2 0 0 0 0 0 0 23.5 255405 chr2 175978809 175978809 C T ATF2 Synonymous SNV L160L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 255406 chr2 179399966 179399966 A G rs367732133 TTN Synonymous SNV Y24727Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.523 255407 chr2 179395443 179395443 A G TTN Nonsynonymous SNV I26235T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 255408 chr2 179736230 179736230 G A rs202186722 CCDC141 Nonsynonymous SNV A710V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 255409 chr2 179825956 179825956 C T CCDC141 0.001 0 0 0 1 0 0 0 0 0 0 0 27 255410 chr1 228554767 228554767 G A rs549279803 OBSCN Nonsynonymous SNV A6507T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 255411 chr1 228563748 228563748 G A rs539506090 OBSCN Nonsynonymous SNV C7609Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28.3 255412 chr3 48266102 48266102 C T rs779987355 CAMP Nonsynonymous SNV R107W 0 0.003 0 0 0 1 0 0 0 0 0 0 21 255413 chr15 41799798 41799798 G A rs779024993 LTK Nonsynonymous SNV T375I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.202 255414 chr6 129381018 129381018 A G LAMA2 Nonsynonymous SNV T125A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.8 255415 chr2 186669305 186669305 T A FSIP2 Nonsynonymous SNV I5091N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 255416 chr15 42116128 42116128 G A rs141214790 MAPKBP1 Nonsynonymous SNV S1361N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 5.547 255417 chr2 189932953 189932953 G T COL5A2 Nonsynonymous SNV T434K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 255418 chr3 49928036 49928036 C T rs199869962 MST1R Nonsynonymous SNV R1125H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 255419 chr2 39347483 39347483 C A SOS1 Synonymous SNV L27L 0 0.005 0 0 0 2 0 0 0 0 0 0 14.58 255420 chr3 49940499 49940499 A G rs13318943 MST1R Synonymous SNV L182L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.47 255421 chr2 202400922 202400922 T C rs777707907 C2CD6 Nonsynonymous SNV H443R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 255422 chr1 246498725 246498725 T G rs754072764 SMYD3 Nonsynonymous SNV K94Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.72 255423 chr3 53912406 53912406 C T ACTR8 Nonsynonymous SNV R128H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 255424 chr2 207170803 207170803 C G ZDBF2 Nonsynonymous SNV N517K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.679 255425 chr15 54007491 54007491 A G WDR72 Nonsynonymous SNV I138T 0 0 0 1 0 0 0.003 0 0 0 0 0 26 255426 chr2 67631389 67631389 C A rs184407723 ETAA1 Nonsynonymous SNV N525K 0 0.005 0 0 0 2 0 0 0 0 0 0 0.056 255427 chr2 209292950 209292950 A G rs145269926 PTH2R Nonsynonymous SNV I34V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 255428 chr15 65385554 65385554 G A rs547893922 UBAP1L Nonsynonymous SNV R343C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 255429 chr1 25783240 25783240 C T rs774408245 MACO1 Synonymous SNV N190N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 255430 chr1 26609376 26609376 G A rs745520921 UBXN11 Nonsynonymous SNV T257I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.38 255431 chr1 26900593 26900593 C T rs144389719 RPS6KA1 Synonymous SNV S712S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.906 255432 chr7 1515707 1515707 G A rs906569901 INTS1 Synonymous SNV S1793S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.383 255433 chr2 95950795 95950795 C T rs754246458 PROM2 Nonsynonymous SNV R603C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 255434 chr1 31971908 31971908 C T rs145101611 LDC1P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.947 255435 chr1 36643729 36643729 G C rs74066063 MAP7D1 Synonymous SNV P508P 0.002 0 0.007 0 2 0 0 2 1 0 0 0 8.932 255436 chr1 36926900 36926900 C T rs374558696 MRPS15 Nonsynonymous SNV V89M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 255437 chr4 121958524 121958524 G C rs200466645 NDNF Nonsynonymous SNV T201S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.74 255438 chr2 232393055 232393055 G A rs762702531 NMUR1 Nonsynonymous SNV A226V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.765 255439 chr4 123301231 123301231 A G rs975589703 ADAD1 Nonsynonymous SNV S3G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.331 255440 chr4 123748047 123748047 G A FGF2 Synonymous SNV E39E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.07 255441 chr4 123797556 123797556 G A FGF2 Nonsynonymous SNV E87K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 255442 chr2 233785078 233785078 C G rs139590629 NGEF Nonsynonymous SNV R156S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 255443 chr20 25477408 25477408 C G NINL Nonsynonymous SNV D401H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 255444 chr1 45887471 45887471 T C rs754910409 TESK2 Synonymous SNV T7T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.337 255445 chr3 121435922 121435922 G C GOLGB1 Nonsynonymous SNV T237R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.46 255446 chr1 55136181 55136181 G A MROH7 Synonymous SNV Q467Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.948 255447 chr3 122437465 122437465 C T rs182462142 PARP14 Synonymous SNV D1489D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.23 255448 chr3 124416513 124416513 C G rs777924359 KALRN Synonymous SNV P893P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 255449 chr4 170051272 170051272 C T rs151090575 SH3RF1 Synonymous SNV P368P 0 0.005 0 0 0 2 0 0 0 0 0 0 21 255450 chr1 63789368 63789368 C T rs114453593 FOXD3 Synonymous SNV N213N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.01 255451 chr16 1272745 1272745 G A rs139783183 TPSG1 Nonsynonymous SNV R140W 0 0 0 1 0 0 0.003 0 0 0 0 0 14.64 255452 chr16 1489102 1489102 T A CCDC154 Nonsynonymous SNV E234V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 255453 chr19 58864213 58864213 C T A1BG-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.566 255454 chr3 128634957 128634957 A G rs933181174 KIAA1257 Nonsynonymous SNV I679T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.49 255455 chr1 75188802 75188802 C G rs779537331 CRYZ Nonsynonymous SNV S6T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 255456 chr3 128780742 128780742 C T rs775994327 GP9 Nonsynonymous SNV R54C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 255457 chr2 27459634 27459634 G T rs199698155 CAD Synonymous SNV G1381G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 255458 chr2 27722272 27722272 C T rs189485742 GCKR Synonymous SNV A168A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.32 255459 chr1 87045119 87045119 C T rs754468914 CLCA4 Synonymous SNV S735S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 255460 chr3 148458806 148458806 C T rs376789057 AGTR1 Nonsynonymous SNV S30L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.19 255461 chr2 44549033 44549033 T C rs779401831 PREPL Nonsynonymous SNV Q614R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.13 255462 chr7 99672841 99672841 T C ZNF3 Nonsynonymous SNV K70R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 255463 chr2 48952861 48952861 A T rs140691492 LHCGR Nonsynonymous SNV Y113N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.16 255464 chr16 4033325 4033325 G A rs376917181 ADCY9 Synonymous SNV Y809Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.337 255465 chr20 8698451 8698451 A G rs45608240 PLCB1 Nonsynonymous SNV Y490C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.327 255466 chr4 5990455 5990455 C T rs766144964 C4orf50 Synonymous SNV Q927Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.46 255467 chr20 2774940 2774940 T A rs149794908 CPXM1 Nonsynonymous SNV T627S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 255468 chr21 31852429 31852429 - TCCAAAGCCAGAGCCATATCCGTAGCCTCCAAAGCCAGAGCCATATCCGTAGCT KRTAP19-1 G69_G70insSYGYGSGFGGYGYGSGFG 0.001 0 0 0 1 0 0 0 0 0 0 0 255469 chr2 71360055 71360055 C T rs765298474 MPHOSPH10 Synonymous SNV F39F 0.002 0 0 0 2 0 0 0 0 0 0 0 11.72 255470 chr20 3102105 3102105 T C rs753070262 UBOX5 Nonsynonymous SNV T394A 0 0 0.007 0 0 0 0 2 0 0 0 0 1.18 255471 chr2 8873793 8873793 G A rs150396643 KIDINS220 Synonymous SNV N1222N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 10.32 255472 chr2 8925883 8925883 T C rs114217936 KIDINS220 Synonymous SNV E740E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 1.777 255473 chr2 9675978 9675978 G C rs143124556 ADAM17 Synonymous SNV A145A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 4.356 255474 chr21 34721553 34721553 A T rs757605689 IFNAR1 Synonymous SNV T315T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 255475 chr21 34804587 34804587 A T rs201843430 IFNGR2 Nonsynonymous SNV N222I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 255476 chr3 193272453 193272456 GTGT - ATP13A4-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 255477 chr20 3784095 3784095 A G rs748214520 CDC25B Synonymous SNV L275L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.38 255478 chr20 40141524 40141524 T C rs778038126 CHD6 Synonymous SNV T271T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.374 255479 chr20 42355304 42355304 A G GTSF1L Nonsynonymous SNV Y11H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.1 255480 chr4 79373367 79373367 C T rs373744776 FRAS1 Synonymous SNV L2208L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.39 255481 chr7 107430022 107430022 A G SLC26A3 Nonsynonymous SNV F228L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 255482 chr2 97270004 97270004 G C rs954265164 KANSL3 Nonsynonymous SNV P509R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 255483 chr4 81952509 81952509 G T rs576053850 BMP3 Nonsynonymous SNV R24I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.832 255484 chr4 83839677 83839677 T C THAP9 Nonsynonymous SNV V771A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.494 255485 chr3 10183552 10183552 C A rs1060503561 VHL Nonsynonymous SNV N7K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.626 255486 chr20 47558435 47558435 A G rs747639378 ARFGEF2 Nonsynonymous SNV I63V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 255487 chr16 772407 772407 G A ANTKMT Synonymous SNV A169A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.21 255488 chr1 19212051 19212051 G C rs147600006 ALDH4A1 Nonsynonymous SNV D63E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.53 255489 chr1 197069709 197069709 T C rs766716643 ASPM Nonsynonymous SNV N2891S 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.256 255490 chr16 83998995 83998995 G A rs150791768 OSGIN1 Nonsynonymous SNV E273K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 255491 chr20 58471544 58471544 T C rs61730335 SYCP2 Nonsynonymous SNV M482V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 255492 chr5 108714307 108714307 C A rs142790008 PJA2 Nonsynonymous SNV C294F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.46 255493 chr20 61525796 61525796 G A rs763566233 DIDO1 Synonymous SNV H847H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.879 255494 chr3 47036641 47036641 G A rs781137078 NBEAL2 Synonymous SNV A438A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.05 255495 chr5 122506622 122506622 T C PRDM6 Nonsynonymous SNV I439T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.793 255496 chr20 62737243 62737243 G A NPBWR2 Synonymous SNV F314F 0 0 0.007 0 0 0 0 2 0 0 0 0 4.625 255497 chr22 28503253 28503253 T C rs766185211 TTC28 Synonymous SNV Q860Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.008 255498 chr16 89922040 89922040 G A rs35800930 SPIRE2 Synonymous SNV K308K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.28 255499 chr17 10212968 10212968 C T rs756546878 MYH13 Synonymous SNV R1612R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 255500 chr3 13896129 13896129 C T rs199592697 WNT7A Nonsynonymous SNV R157H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 255501 chr17 1386975 1386975 G A MYO1C Synonymous SNV D92D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.014 255502 chr17 16455476 16455476 G A rs149309490 ZNF287 Synonymous SNV G612G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.319 255503 chr8 10388949 10388949 G A rs761857387 PRSS55 Synonymous SNV S164S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 7.437 255504 chr17 17069546 17069546 C T rs3744129 MPRIP Synonymous SNV S1579S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.117 255505 chr17 17394804 17394804 G A rs1000820978 MED9 Nonsynonymous SNV E146K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 255506 chr8 11614483 11614483 C T rs115372595 GATA4 Nonsynonymous SNV A347V 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Likely benign 12.2 255507 chr8 11708421 11708421 G A rs148117767 CTSB Nonsynonymous SNV P94L 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 27.3 255508 chr21 42866399 42866399 G A rs138651919 TMPRSS2 Nonsynonymous SNV P78L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 255509 chr5 140589614 140589614 G C rs143078709 PCDHB12 Nonsynonymous SNV G379R 0 0.003 0.007 1 0 1 0.003 2 0 0 0 0 24.7 255510 chr3 74535675 74535675 G A rs750775184 CNTN3 Nonsynonymous SNV T97I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.418 255511 chr3 151171447 151171447 T G rs752193145 IGSF10 Nonsynonymous SNV E147A 0.001 0 0 0 1 0 0 0 0 0 0 0 26 255512 chr17 15234675 15234675 G A rs150447534 TEKT3 Synonymous SNV S76S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 255513 chr21 45825813 45825813 G A rs147919263 TRPM2 Nonsynonymous SNV G895R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 255514 chr3 154021118 154021118 C A rs146498505 DHX36 Nonsynonymous SNV R406M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 255515 chr21 46906780 46906780 C T rs559725056 COL18A1 Synonymous SNV S749S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 8.88 255516 chr21 46032103 46032103 G A rs201632967 KRTAP10-8 Nonsynonymous SNV R29Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.194 255517 chr5 149515424 149515424 A G rs758433037 PDGFRB Nonsynonymous SNV S20P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.814 255518 chr3 170585892 170585892 T C rs375049579 RPL22L1 Nonsynonymous SNV N45S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 255519 chr21 47850495 47850495 G A rs778334017 PCNT Nonsynonymous SNV R2545H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24 255520 chr3 171406582 171406582 C T rs750057076 PLD1 Nonsynonymous SNV A475T 0.002 0 0 0 2 0 0 0 0 0 0 0 31 255521 chr22 18121479 18121479 C G BCL2L13 Nonsynonymous SNV P7R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 255522 chr17 29677228 29677228 G A rs533110479 NF1 Nonsynonymous SNV R2429Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 255523 chr17 33269890 33269890 C T rs749788960 CCT6B Nonsynonymous SNV R172H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 255524 chr17 33434108 33434108 C G rs876659085 RAD51D Nonsynonymous SNV G147R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 14.72 255525 chr22 20760682 20760682 C T rs756458306 ZNF74 Synonymous SNV F382F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 255526 chr17 33503041 33503041 A C UNC45B Nonsynonymous SNV Q592H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 255527 chr22 21212966 21212966 - CCGCCT rs565290504 PI4KA G18_C19insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 255528 chr17 34328592 34328592 C T CCL15-CCL14 0 0 0 1 0 0 0.003 0 0 0 0 0 6.217 255529 chr17 34901582 34901582 A T GGNBP2 Synonymous SNV R3R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.279 255530 chr22 25120883 25120883 C T rs189209868 PIWIL3 Synonymous SNV S743S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 255531 chr22 50664798 50664798 G A rs201235588 TUBGCP6 Synonymous SNV H537H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.201 255532 chr5 170669709 170669711 TTA - RANBP17 Y889del 0 0.003 0 0 0 1 0 0 0 0 0 0 255533 chr22 50962663 50962663 G A rs753779965 SCO2 Nonsynonymous SNV R60W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 255534 chr22 28379096 28379096 C A TTC28 Nonsynonymous SNV V2187L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.945 255535 chr4 153896173 153896173 G C rs374872833 FHDC1 Nonsynonymous SNV R577P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.13 255536 chr4 153897735 153897735 C G rs373722069 FHDC1 Nonsynonymous SNV R1098G 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.142 255537 chr4 15529082 15529082 G A rs115924432 CC2D2A Nonsynonymous SNV V388I 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 1.485 255538 chr3 197746209 197746209 G A rs180983819 LMLN Nonsynonymous SNV V440M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 255539 chr22 35802567 35802567 G C rs34391116 MCM5 Nonsynonymous SNV V149L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.7 255540 chr3 20142872 20142872 A C rs151336172 KAT2B Nonsynonymous SNV I255L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.22 255541 chr22 37273768 37273768 G A rs141160114 NCF4 Nonsynonymous SNV R308Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.034 255542 chr3 27490260 27490260 G A rs774016267 SLC4A7 Synonymous SNV H53H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.72 255543 chr3 38523976 38523976 G A rs146067304 ACVR2B Synonymous SNV S423S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12 255544 chr22 38465089 38465089 C T rs147840806 PICK1 Synonymous SNV T133T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 255545 chr17 39985071 39985071 C T rs140187022 NT5C3B Nonsynonymous SNV V180M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 255546 chr22 43529111 43529111 C T rs143026395 MCAT Nonsynonymous SNV A371T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.445 255547 chr1 33960945 33960945 A T ZSCAN20 Nonsynonymous SNV S1001C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 255548 chr3 45153626 45153626 G A rs141965879 CDCP1 Nonsynonymous SNV H202Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 255549 chr3 45800533 45800533 C T rs770985549 SLC6A20 Synonymous SNV L535L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 255550 chr17 46805471 46805471 G C rs751081605 HOXB13 Nonsynonymous SNV S162C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.9 255551 chr22 50927976 50927976 C T rs149138591 MIOX Nonsynonymous SNV R218W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 35 255552 chr5 68715776 68715776 G A rs754706770 MARVELD2 Synonymous SNV S188S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 255553 chr22 51159335 51159335 G A rs779458673 SHANK3 Nonsynonymous SNV R1011H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 255554 chr17 4796055 4796055 G T rs374378662 MINK1 Nonsynonymous SNV R731L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 255555 chr5 74037369 74037369 C T rs35565659 GFM2 Synonymous SNV L305L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.68 255556 chr2 107459919 107459919 C T rs76671923 ST6GAL2 Nonsynonymous SNV R172Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 14.53 255557 chr17 56676443 56676443 A G rs55927508 TEX14 Synonymous SNV L761L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.531 255558 chr17 56798128 56798128 A G rs28363317 RAD51C Nonsynonymous SNV T287A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26.6 255559 chr17 5283756 5283756 A C RABEP1 Nonsynonymous SNV K747T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 255560 chr1 45266601 45266601 G A PLK3 Synonymous SNV K100K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.37 255561 chr2 11751072 11751072 G C rs200602887 GREB1 Synonymous SNV A975A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.434 255562 chr1 47904668 47904668 - CCCCAC FOXD2 H293_A294insPH 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 255563 chr17 67266828 67266828 T C rs145300105 ABCA5 Nonsynonymous SNV I986V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.37 255564 chr4 68359654 68359654 T C rs763295028 CENPC Synonymous SNV K746K 0 0.005 0 0 0 2 0 0 0 0 0 0 10 255565 chr2 147346468 147346468 T C rs1017467426 PABPC1P2 0 0 0.003 0 0 0 0 1 0 0 0 0 4.482 255566 chr3 98240185 98240185 G A CLDND1 Synonymous SNV G28G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.015 255567 chr4 71201065 71201065 A - rs750487207 CABS1 N104Tfs*3 0 0.005 0 0 0 2 0 0 0 0 0 0 255568 chr2 15427206 15427206 G A rs369271997 NBAS Nonsynonymous SNV T1710M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 255569 chr4 71472424 71472424 G A rs144829376 AMBN Nonsynonymous SNV A441T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.911 255570 chr4 77003414 77003414 A G rs768073717 ART3 Synonymous SNV S169S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.799 255571 chr6 110421818 110421818 G A rs141983934 WASF1 Synonymous SNV N529N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.089 255572 chr2 168096408 168096408 A T rs75422885 XIRP2 Nonsynonymous SNV Q79L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.995 255573 chr2 168102617 168102617 T C rs7588159 XIRP2 Nonsynonymous SNV I1350T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.6 255574 chr2 168102890 168102890 T C rs7591107 XIRP2 Nonsynonymous SNV I1441T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.8 255575 chr2 170103899 170103899 T C rs753797958 LRP2 Nonsynonymous SNV N966S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 255576 chr17 7125341 7125341 T C rs77763289 ACADVL Synonymous SNV S209S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 2.176 255577 chr17 7128161 7128161 G A rs774382482 ACADVL Synonymous SNV T573T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.3 255578 chr2 17851842 17851842 C T SMC6 Nonsynonymous SNV V971I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 255579 chr4 123264686 123264686 C T KIAA1109 Synonymous SNV S4158S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 255580 chr4 88989111 88989111 G A rs147654263 PKD2 Nonsynonymous SNV R807Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 29.1 255581 chr4 90874177 90874177 C T rs140432017 MMRN1 Nonsynonymous SNV P1099S 0 0.005 0 1 0 2 0.003 0 0 0 0 0 27.3 255582 chr6 132649201 132649201 C T rs144409218 MOXD1 Synonymous SNV P299P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.87 255583 chr1 3396434 3396434 A C ARHGEF16 Synonymous SNV T649T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 255584 chr9 109688912 109688912 G A rs150780618 ZNF462 Nonsynonymous SNV E907K 0 0 0 2 0 0 0.005 0 0 0 0 0 27.7 255585 chr2 18758142 18758142 G A rs146130311 NT5C1B, NT5C1B-RDH14 Synonymous SNV F349F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 255586 chr6 150039104 150039104 - G rs776480344 LOC645967 0 0.003 0 0 0 1 0 0 0 0 0 0 255587 chr5 115335509 115335509 C T rs759965911 LVRN Synonymous SNV H475H 0 0.005 0 0 0 2 0 0 0 0 0 0 14.99 255588 chr4 139153479 139153479 A G SLC7A11 Synonymous SNV F154F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.657 255589 chr4 144469136 144469136 A G SMARCA5 Nonsynonymous SNV K943R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 255590 chr2 201857047 201857047 A G rs757884121 FAM126B Nonsynonymous SNV I263T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 255591 chr17 7695584 7695584 G A rs149189300 DNAH2 Synonymous SNV E2356E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.16 255592 chr2 20403575 20403575 T C rs771465948 SDC1 Nonsynonymous SNV Q209R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 255593 chr4 155665507 155665507 C T LRAT Nonsynonymous SNV S10F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.721 255594 chr4 1807288 1807288 G T FGFR3 Nonsynonymous SNV D401Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 255595 chr4 183720840 183720840 - GC TENM3 Frameshift insertion A2480Rfs*17 0.007 0 0 0 8 0 0 0 0 0 0 0 255596 chr4 183720844 183720844 - CCCGT TENM3 Frameshift insertion G2481Pfs*17 0.007 0 0 0 8 0 0 0 0 0 0 0 255597 chr4 183720847 183720847 - CCGAAGCTGCTCACTGCCTCTCTGCGGCTGCCCCAGGGTGCACACAGGTTGTCCCCGCCTCATCCTCCTTGCGGGAAGGA TENM3 Frameshift insertion G2482Pfs*41 0.006 0 0 0 7 0 0 0 0 0 0 0 255598 chr2 209214757 209214757 A G rs145556414 PIKFYVE Nonsynonymous SNV D1795G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 255599 chr1 19282643 19282643 C G rs557025670 IFFO2 Nonsynonymous SNV V62L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.666 255600 chr1 20209071 20209071 G T rs201163171 OTUD3 Nonsynonymous SNV R22L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 255601 chr17 8638865 8638865 A G CCDC42 Nonsynonymous SNV M186T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.01 255602 chr2 242814631 242814631 C T RTP5 Synonymous SNV P308P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.848 255603 chr2 232393124 232393124 C T rs17853665 NMUR1 Nonsynonymous SNV R203Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 255604 chr1 26664143 26664143 C T rs143596003 CRYBG2 Nonsynonymous SNV G1177D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.7 255605 chr2 234474190 234474190 T A rs889587994 USP40 Nonsynonymous SNV D4V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 255606 chr1 29189483 29189483 C T rs118175398 OPRD1 Synonymous SNV A269A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.47 255607 chr1 29644271 29644271 G T rs2235941 PTPRU Synonymous SNV S1172S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.29 255608 chr10 3143670 3143670 C G rs762643197 PFKP Synonymous SNV G99G 0.002 0 0 2 2 0 0.005 0 0 0 0 0 10.3 255609 chr2 54120827 54120827 C A rs201669390 PSME4 Nonsynonymous SNV R1341L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 35 255610 chr10 3214939 3214939 C A rs199766052 PITRM1 Nonsynonymous SNV G9V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 5.157 255611 chr2 29296483 29296483 C T rs374663422 PCARE Synonymous SNV L215L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.68 255612 chr18 72010871 72010871 A G rs183755969 C18orf63 Synonymous SNV G304G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.819 255613 chr2 31147655 31147655 G A rs377585928 GALNT14 Nonsynonymous SNV R396C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 255614 chr1 52823304 52823304 T A rs200255661 CC2D1B Nonsynonymous SNV K549M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 255615 chr4 71554576 71554576 C G rs756612188 UTP3 Nonsynonymous SNV A61G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.27 255616 chr6 51524165 51524165 A G rs755174075 PKHD1 Nonsynonymous SNV F3587L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 255617 chr6 51890478 51890478 T G rs773345692 PKHD1 Nonsynonymous SNV N1377T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.041 255618 chr1 54060327 54060327 G C GLIS1 Synonymous SNV S83S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.793 255619 chr1 54423844 54423844 C A LRRC42 Nonsynonymous SNV L166I 0 0 0 2 0 0 0.005 0 0 0 0 0 32 255620 chr2 74802630 74802630 G T rs765017398 M1AP Nonsynonymous SNV Q337K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.97 255621 chr2 84928260 84928260 T G rs1056595949 DNAH6 Nonsynonymous SNV F2620V 0.003 0 0 0 4 0 0 0 0 0 0 0 27.9 255622 chr5 36986126 36986126 C T rs761786416 NIPBL Synonymous SNV G948G 0 0.005 0 0 0 2 0 0 0 0 0 0 7.336 255623 chr1 57169667 57169667 A G PRKAA2 Nonsynonymous SNV D271G 0 0 0 2 0 0 0.005 0 0 0 0 0 21.8 255624 chr5 39202068 39202068 T C rs3749741 FYB1 Nonsynonymous SNV K342R 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 14.59 255625 chr19 1009222 1009222 C T rs1041096973 GRIN3B Nonsynonymous SNV P918L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.658 255626 chr4 79359771 79359771 G A rs375054937 FRAS1 Synonymous SNV L1755L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.796 255627 chr2 86831537 86831537 G A RNF103 Nonsynonymous SNV P496L 0.003 0 0 0 4 0 0 0 0 0 0 0 26.1 255628 chr2 44503010 44503010 A G rs887834935 SLC3A1 Synonymous SNV P112P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.447 255629 chr10 31138837 31138837 T C rs779974602 ZNF438 Nonsynonymous SNV H166R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 255630 chr5 43509364 43509364 T C rs59547908 C5orf34 Synonymous SNV Q26Q 0 0.005 0 0 0 2 0 0 0 0 0 0 14.22 255631 chr5 43659300 43659300 G A rs758376457 NNT Nonsynonymous SNV G697S 0 0.005 0 0 0 2 0 0 0 0 0 0 33 255632 chr2 51255184 51255184 G A rs765374506 NRXN1 Synonymous SNV C76C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.948 255633 chr2 54756507 54756507 G T rs139409056 RPL23AP32 0 0 0.007 0 0 0 0 2 0 0 0 0 0.394 255634 chr2 55895076 55895076 C A PNPT1 Nonsynonymous SNV D332Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 255635 chr4 86938452 86938452 C A MAPK10 Nonsynonymous SNV D442Y 0.002 0 0 0 2 0 0 0 0 0 0 0 32 255636 chr4 88375600 88375600 C T rs140025728 NUDT9 Synonymous SNV D257D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.12 255637 chr10 46999516 46999516 G A GPRIN2 Synonymous SNV Q212Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 255638 chr4 89649891 89649891 G A FAM13A-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 2.687 255639 chr4 95376488 95376488 C T rs747183854 PDLIM5 Nonsynonymous SNV R17W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 255640 chr5 126770437 126770437 C A MEGF10 Nonsynonymous SNV H633Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 255641 chr2 72562107 72562107 G A EXOC6B Nonsynonymous SNV T677M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 255642 chr3 111766670 111766670 T C TMPRSS7 Nonsynonymous SNV M146T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.883 255643 chr3 111835813 111835813 T G C3orf52 Nonsynonymous SNV F241V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 255644 chr2 75101521 75101521 C T rs28363006 HK2 Nonsynonymous SNV R274C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 255645 chr5 72469675 72469675 T C TMEM174 Nonsynonymous SNV F202S 0 0.005 0 0 0 2 0 0 0 0 0 0 2.827 255646 chr2 75874015 75874015 C A rs11552948 MRPL19 Nonsynonymous SNV P28T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.463 255647 chr2 8871750 8871750 G A rs541446973 KIDINS220 Synonymous SNV P1416P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.383 255648 chr2 98866866 98866866 G A rs367940324 VWA3B Nonsynonymous SNV R577Q 0 0 0.007 0 0 0 0 2 0 0 0 0 11.09 255649 chr3 120973863 120973863 C T rs139305792 STXBP5L Synonymous SNV Y521Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 255650 chr19 17212964 17212964 C T rs374387496 MYO9B Nonsynonymous SNV A146V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 255651 chr2 99978074 99978074 A T rs201583340 EIF5B Nonsynonymous SNV E237V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.9 255652 chr3 100962644 100962644 C T rs139105788 IMPG2 Nonsynonymous SNV R844Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.29 255653 chr19 18233552 18233552 C T MAST3 Synonymous SNV S101S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.33 255654 chr3 111760812 111760812 G A TMPRSS7 Nonsynonymous SNV R3H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 255655 chr3 126229608 126229608 G A UROC1 Synonymous SNV F52F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.346 255656 chr6 109769994 109769994 G A rs766189264 MICAL1 Synonymous SNV S449S 0 0.005 0 0 0 2 0 0 0 0 0 0 5.742 255657 chr22 18347692 18347692 C T rs199950640 MICAL3 Nonsynonymous SNV V860M 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.702 255658 chr1 119584941 119584941 - TGCCA WARS2 Frameshift insertion T154Mfs*37 0 0 0 2 0 0 0.005 0 0 0 0 0 255659 chr3 122134333 122134333 G T rs772415715 WDR5B Nonsynonymous SNV L15I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.213 255660 chr3 122842940 122842940 T A PDIA5 Nonsynonymous SNV S213T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 255661 chr19 2733439 2733439 C T rs1036904376 SLC39A3 Synonymous SNV P85P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.933 255662 chr3 128369629 128369629 G A rs919717895 RPN1 Synonymous SNV A5A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 255663 chr1 152128719 152128719 T G rs754941197 RPTN Nonsynonymous SNV T286P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.495 255664 chr3 132441124 132441124 C T NPHP3 Nonsynonymous SNV E26K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 255665 chr6 146127021 146127026 ACAGAC - rs758593960 FBXO30 S173_V174del 0 0.005 0 0 0 2 0 0 0 0 0 0 255666 chr3 13363150 13363150 T C NUP210 Nonsynonymous SNV S1701G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.33 255667 chr6 151161391 151161391 G A rs763998761 PLEKHG1 Nonsynonymous SNV A1134T 0 0.005 0 0 0 2 0 0 0 0 0 0 6.061 255668 chr3 151112627 151112627 G A MED12L Nonsynonymous SNV R1896K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 255669 chr5 156926624 156926624 G A rs147064466 ADAM19 Nonsynonymous SNV P452L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.728 255670 chr3 155523980 155523980 T C rs569643608 C3orf33 Nonsynonymous SNV N21S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.011 255671 chr5 158696025 158696025 C A rs201780569 UBLCP1 Synonymous SNV T34T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 255672 chr3 16268950 16268950 T C rs147248269 GALNT15 Synonymous SNV D151D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 255673 chr5 167719179 167719179 C G WWC1 Nonsynonymous SNV L8V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 255674 chr6 160829831 160829831 G T SLC22A3 Synonymous SNV V245V 0 0.005 0 0 0 2 0 0 0 0 0 0 10.83 255675 chr3 167508341 167508341 T C rs140116256 SERPINI1 Synonymous SNV N144N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.287 255676 chr3 184001719 184001719 C T rs151261667 ECE2, EEF1AKMT4-ECE2 Synonymous SNV D292D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 255677 chr3 186358298 186358298 G A rs148037844 FETUB Nonsynonymous SNV G17R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 255678 chr3 193019019 193019019 C G ATP13A5 Nonsynonymous SNV S919T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 255679 chr3 37136303 37136303 T C LRRFIP2 Nonsynonymous SNV T107A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.203 255680 chr2 100938472 100938472 C G LONRF2 Nonsynonymous SNV E28D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 7.506 255681 chr5 36217959 36217959 T A rs143886977 NADK2 Nonsynonymous SNV L224F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 255682 chr5 36984996 36984996 C A rs765367412 NIPBL Nonsynonymous SNV Q572K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 255683 chr1 182550385 182550385 T C rs149964724 RNASEL Nonsynonymous SNV K627R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.001 255684 chr1 182869312 182869312 A G rs141404677 SHCBP1L Nonsynonymous SNV Y590H 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 255685 chr7 31681834 31681834 G A rs970719675 ITPRID1 Nonsynonymous SNV G425R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 255686 chr5 52233241 52233241 G A ITGA1 Nonsynonymous SNV S992N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 255687 chr3 38316605 38316605 A G SLC22A13 Nonsynonymous SNV I255V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 255688 chr7 44146478 44146478 A C rs767818858 AEBP1 Nonsynonymous SNV Q196P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.056 255689 chr6 44222670 44222670 T C rs764771697 SLC35B2 Nonsynonymous SNV T225A 0 0.003 0 0 0 1 0 0 0 0 0 0 25 255690 chr7 45011786 45011786 C G rs781423784 MYO1G Synonymous SNV L219L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.066 255691 chr3 47030781 47030781 G A rs748340884 NBEAL2 Nonsynonymous SNV G121D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.22 255692 chr3 47054450 47054450 G A rs755777430 NRADDP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.76 255693 chr1 204924039 204924039 G A rs77635708 NFASC Synonymous SNV P159P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.2 255694 chr1 206325332 206325332 G A CTSE Nonsynonymous SNV G111D 0 0 0 1 0 0 0.003 0 0 0 0 0 30 255695 chr3 48416902 48416902 G C rs372912249 FBXW12 Nonsynonymous SNV E96D 0 0 0.007 0 0 0 0 2 0 0 0 0 5.789 255696 chr3 52384042 52384042 A G rs182519456 DNAH1 Nonsynonymous SNV Y855C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.15 255697 chr3 49691010 49691010 C T rs142305207 BSN Nonsynonymous SNV R1341C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 255698 chr6 112441568 112441568 C T rs782805733 LAMA4 Nonsynonymous SNV R1528H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.8 255699 chr19 51528012 51528012 C T rs146041341 KLK11 Nonsynonymous SNV E27K 0 0 0 1 0 0 0.003 0 0 0 0 0 24 255700 chr3 53263333 53263333 G A rs34601275 TKT Synonymous SNV N409N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.31 255701 chr3 53326609 53326609 C T rs35983535 DCP1A Synonymous SNV P132P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 255702 chr3 53891687 53891687 G A rs2232344 IL17RB Synonymous SNV V239V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.278 255703 chr3 65415647 65415647 G A rs373058271 MAGI1 Nonsynonymous SNV S572L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 255704 chr3 63898390 63898390 - GCCGCAGCC ATXN7 P40_P41insQPP 0 0 0.003 0 0 0 0 1 0 0 0 0 255705 chr6 131199244 131199244 C T EPB41L2 Synonymous SNV G681G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 255706 chr3 73111782 73111782 C T rs748665685 EBLN2 Nonsynonymous SNV R184C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 255707 chr6 99790840 99790840 A G rs190406309 FAXC Synonymous SNV V112V 0 0.005 0 0 0 2 0 0 0 0 0 0 9.477 255708 chr3 98002549 98002549 A G OR5H2 Nonsynonymous SNV D273G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.628 255709 chr11 6265433 6265433 C T CNGA4 Stop gain Q508X 0 0 0 1 0 0 0.003 0 0 0 0 0 48 255710 chr6 143828535 143828535 G A rs572351835 FUCA2 Nonsynonymous SNV P84L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 255711 chr11 6413108 6413108 T C rs61876771 SMPD1 Synonymous SNV P271P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.155 255712 chr4 106197196 106197196 C T rs563673467 TET2 Synonymous SNV N1843N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.292 255713 chr8 10465286 10465286 C T rs187998469 RP1L1 Nonsynonymous SNV G2108R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.401 255714 chr8 105360956 105360956 T C rs1048181146 DCSTAMP Nonsynonymous SNV I59T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 255715 chr4 110608706 110608706 - TGTT MCUB Frameshift insertion Q326Ffs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 255716 chr1 247025341 247025341 G A rs139736452 AHCTF1 Nonsynonymous SNV P1219S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 255717 chr4 120983222 120983222 T C MAD2L1 Synonymous SNV K83K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.841 255718 chr6 158923487 158923487 A G TULP4 Nonsynonymous SNV E931G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 255719 chr4 123264611 123264611 T C rs201957739 KIAA1109 Synonymous SNV S4133S 0 0 0.007 0 0 0 0 2 0 0 0 0 10.21 255720 chr1 248084747 248084747 A C rs4523549 OR2T8 Nonsynonymous SNV N143T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.008 255721 chr6 160998302 160998302 G A LPA Synonymous SNV V1499V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.233 255722 chr1 248309222 248309222 T C rs146014040 OR2M5 Nonsynonymous SNV M258T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 255723 chr4 145636538 145636538 G A HHIP Nonsynonymous SNV G545D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 255724 chr8 143746108 143746108 G A rs587633593 JRK Nonsynonymous SNV S457L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.65 255725 chr4 169799437 169799437 G A rs543821321 PALLD Nonsynonymous SNV R132H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 10.4 255726 chr4 183713588 183713588 C T rs764221618 TENM3 Synonymous SNV N1921N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 255727 chr2 220082479 220082479 A C ABCB6 Nonsynonymous SNV F200L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.59 255728 chr6 170036494 170036494 A G rs376587997 WDR27 Nonsynonymous SNV I468T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 255729 chr4 2306041 2306041 C A ZFYVE28 Nonsynonymous SNV A646S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 255730 chr6 25845725 25845725 C T rs200345286 SLC17A3 Nonsynonymous SNV R383K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 255731 chr4 3318062 3318062 C T rs141866851 RGS12 Synonymous SNV F55F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.36 255732 chr4 36230634 36230634 G A rs141442791 ARAP2 Nonsynonymous SNV P159S 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 0.276 255733 chr6 27114380 27114380 G A rs374079896 H2BC12 Synonymous SNV F66F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 255734 chr4 4766060 4766060 C G rs181685257 LOC101928279 0 0 0.003 0 0 0 0 1 0 0 0 0 0.698 255735 chr8 22885935 22885935 T C rs141760693 TNFRSF10B Synonymous SNV T219T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.069 255736 chr4 57843287 57843287 C T NOA1 Synonymous SNV V155V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.027 255737 chr4 52740458 52740458 C A rs199634205 DCUN1D4 Nonsynonymous SNV S53Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 255738 chr8 23386634 23386634 C A SLC25A37 Nonsynonymous SNV P40Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 255739 chr6 36672196 36672196 T A RAB44 Nonsynonymous SNV F62I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 255740 chr4 6590835 6590835 A T rs114107677 MAN2B2 Nonsynonymous SNV I210F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 255741 chr6 5431320 5431320 T A rs201042275 FARS2 Synonymous SNV P273P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.8 255742 chr6 5431347 5431347 T C rs764139130 FARS2 Synonymous SNV H282H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.876 255743 chr2 74742942 74742942 C G rs140224606 TLX2 Nonsynonymous SNV R195G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.5 255744 chr6 76333626 76333628 CTG - SENP6 L54del 0.001 0 0 0 1 0 0 0 0 0 0 0 255745 chr6 43582159 43582159 A G rs61756402 POLH Synonymous SNV S545S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.517 255746 chr4 87735618 87735618 A G rs34226837 PTPN13 Nonsynonymous SNV I2267V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.45 255747 chr4 88537385 88537393 GACAGCAGC - rs779559161 DSPP S1229_S1231del 0 0 0.003 0 0 0 0 1 0 0 0 0 255748 chr4 88766142 88766142 A T rs138665285 MEPE Nonsynonymous SNV N41I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.6 255749 chr4 88766197 88766197 A G rs141864614 MEPE Synonymous SNV S59S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.3 255750 chr4 88766404 88766404 T C rs139311420 MEPE Synonymous SNV D128D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 255751 chr4 88766737 88766737 C T rs150454926 MEPE Synonymous SNV S239S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 255752 chr7 44144285 44144285 G A rs572403133 AEBP1 Synonymous SNV A7A 0 0.005 0.007 0 0 2 0 2 0 0 0 0 17.45 255753 chr4 88766896 88766896 G A rs141911146 MEPE Synonymous SNV E292E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.898 255754 chr4 88767366 88767366 A C rs61731017 MEPE Nonsynonymous SNV N449T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.024 255755 chr4 88767481 88767481 A C rs61731016 MEPE Nonsynonymous SNV Q487H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 255756 chr2 102641099 102641099 C A rs56075526 IL1R2 Nonsynonymous SNV P286T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 2.777 255757 chr5 102285612 102285612 T C rs201009674 PAM Nonsynonymous SNV V244A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 255758 chr5 112173730 112173730 T C APC Synonymous SNV N795N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.005 255759 chr4 88902824 88902824 G C SPP1 Synonymous SNV T97T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.477 255760 chr5 115298323 115298323 C T LVRN Synonymous SNV P3P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.73 255761 chr2 121747112 121747112 C T rs201103063 GLI2 Nonsynonymous SNV R1066C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.65 255762 chr5 118513114 118513116 CTT - rs569977970 DMXL1 S2275del 0 0 0.003 0 0 0 0 1 0 0 0 0 255763 chr6 73933476 73933476 - A KHDC1L Stop gain D128* 0.001 0 0 1 1 0 0.003 0 0 0 0 0 255764 chr6 73933479 73933502 CGGTGTACGGTGGCAGGCTAACGG - KHDC1L Stop gain S119_D128del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 255765 chr2 128918103 128918103 G A rs115343101 UGGT1 Nonsynonymous SNV V878M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.61 255766 chr2 136566782 136566782 G A rs754582267 LCT Synonymous SNV Y1045Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.296 255767 chr2 138376060 138376060 A G rs199596240 THSD7B Nonsynonymous SNV M1222V 0 0 0 2 0 0 0.005 0 0 0 0 0 7.005 255768 chr2 149864494 149864494 C T rs779885153 KIF5C Synonymous SNV N821N 0 0 0 2 0 0 0.005 0 0 0 0 0 14 255769 chr5 1212578 1212578 C T rs376080842 SLC6A19 Synonymous SNV R214R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.147 255770 chr5 139930374 139930374 G C SRA1 Nonsynonymous SNV L180V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 255771 chr7 99453228 99453228 C - CYP3A43 T120Pfs*7 0 0.005 0 0 0 2 0 0 0 0 0 0 255772 chr9 128099722 128099722 G A rs138125420 GAPVD1 Nonsynonymous SNV R889Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 255773 chr5 150323425 150323425 G A rs535822806 ZNF300P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.126 255774 chr2 179640894 179640894 G A rs148434577 TTN Synonymous SNV I1853I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign/Likely benign 9.711 255775 chr9 131755890 131755890 C T NUP188 Synonymous SNV P978P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.68 255776 chr5 162886893 162886893 G A rs753247235 NUDCD2 Nonsynonymous SNV S55L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 255777 chr5 16680092 16680092 G A rs368193673 MYO10 Synonymous SNV I1502I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 255778 chr7 1197334 1197334 A C rs771816621 ZFAND2A Nonsynonymous SNV H36Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 255779 chr7 12684300 12684300 C T rs201081798 SCIN Synonymous SNV Y370Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.297 255780 chr2 207027285 207027285 A G rs759689793 EEF1B2 Nonsynonymous SNV K157R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 255781 chr11 118014634 118014634 G A rs766890974 SCN4B Nonsynonymous SNV T16M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.8 255782 chr11 118899059 118899059 C T SLC37A4 Nonsynonymous SNV A76T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 32 255783 chr7 128481578 128481578 A C rs34972246 FLNC Nonsynonymous SNV D693A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 28.9 255784 chr7 128482287 128482287 C T rs187481700 FLNC Synonymous SNV D708D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 15.82 255785 chr7 151073831 151073831 C T NUB1 Nonsynonymous SNV P559S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 255786 chr7 130356563 130356563 T C TSGA13 Nonsynonymous SNV Q199R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 255787 chr2 219249963 219249963 G A rs375958099 SLC11A1 Nonsynonymous SNV E123K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.8 255788 chr5 24537518 24537518 G A CDH10 Nonsynonymous SNV T166I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 255789 chr9 140331375 140331375 G A rs139821464 ENTPD8 Synonymous SNV A167A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 7.269 255790 chr7 143042752 143042752 C T CLCN1 Nonsynonymous SNV A690V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 255791 chr5 477430 477430 T A rs369798965 SLC9A3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.818 255792 chr8 21891725 21891725 A C rs756033395 NPM2 Nonsynonymous SNV E157A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 16.13 255793 chr2 226378091 226378091 G A rs911626600 NYAP2 Nonsynonymous SNV G76S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 255794 chr8 21960100 21960100 T A rs755233115 FAM160B2 Nonsynonymous SNV L684Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.5 255795 chr7 30793532 30793532 G A rs76338133 INMT Nonsynonymous SNV A113T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.3 255796 chr2 228228684 228228684 T G TM4SF20 Nonsynonymous SNV D149A 0 0 0 2 0 0 0.005 0 0 0 0 0 2.623 255797 chr7 149473583 149473583 C T rs374738785 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 2.92 255798 chr7 31124401 31124401 C T ADCYAP1R1 Nonsynonymous SNV T142I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 255799 chr2 230636298 230636298 C T rs746282755 TRIP12 Synonymous SNV S1570S 0 0 0 2 0 0 0.005 0 0 0 0 0 19.37 255800 chr5 57755609 57755609 G C rs140600076 PLK2 Nonsynonymous SNV H60D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 255801 chr2 234198559 234198559 G A rs201466879 ATG16L1 Synonymous SNV A258A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.48 255802 chr8 28627435 28627435 C T rs1026216407 INTS9 Nonsynonymous SNV V570M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.2 255803 chr2 235951050 235951050 C T rs371677251 SH3BP4 Nonsynonymous SNV T546M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 255804 chr3 186015856 186015856 C T rs761199886 DGKG Nonsynonymous SNV A103T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.037 255805 chr5 89990447 89990447 G A rs201214794 ADGRV1 Nonsynonymous SNV R2625H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.6 255806 chr5 93800595 93800595 C T rs145267585 KIAA0825 Nonsynonymous SNV R681H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 255807 chr9 97897777 97897779 TCT - rs3831244 FANCC K231del 0 0.003 0 0 0 1 0 0 0 0 0 0 255808 chr9 99521710 99521710 T C rs768660889 ZNF510 Nonsynonymous SNV T406A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 255809 chr3 9804859 9804859 T C rs138483154 CAMK1 Nonsynonymous SNV Y85C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.1 255810 chr5 75699390 75699390 C A rs747881615 IQGAP2 Nonsynonymous SNV P7Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 255811 chr6 117631301 117631301 C T rs199882276 ROS1 Nonsynonymous SNV R2126Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 35 255812 chr7 92761607 92761607 T - SAMD9L K1226Nfs*32 0.002 0 0 0 2 0 0 0 0 0 0 0 255813 chr3 33644497 33644497 C T rs199696785 CLASP2 Nonsynonymous SNV R391Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 255814 chrX 153049546 153049546 G A rs782168635 SRPK3 Nonsynonymous SNV R341H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 255815 chr6 131996237 131996237 G A rs184122149 ENPP3 Nonsynonymous SNV M260I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 255816 chr6 13281208 13281208 T C LOC100130357 0 0 0.003 0 0 0 0 1 0 0 0 0 1.47 255817 chrX 153278517 153278517 C G IRAK1 Nonsynonymous SNV G557A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 255818 chr6 13615616 13615616 C T NOL7 Nonsynonymous SNV S9F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 255819 chr7 5372282 5372282 G A TNRC18 Nonsynonymous SNV R2040C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 255820 chr7 5372283 5372283 C A TNRC18 Synonymous SNV G2039G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 255821 chr9 116346405 116346405 G A rs766426185 RGS3 Nonsynonymous SNV D226N 0 0.005 0 0 0 2 0 0 0 0 0 0 29.1 255822 chr1 229693995 229693995 G A rs767524203 ABCB10 Synonymous SNV R135R 0.001 0 0 2 1 0 0.005 0 0 0 0 1 11.9 255823 chr6 108192986 108192986 C G rs761321161 SEC63 Synonymous SNV G735G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.74 255824 chr6 109768336 109768336 G A rs149976085 MICAL1 Nonsynonymous SNV R637C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 255825 chr8 11640833 11640833 C G NEIL2 Nonsynonymous SNV Q144E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 255826 chr6 155153581 155153581 G A rs138363957 SCAF8 Synonymous SNV S956S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.194 255827 chr6 155757559 155757559 T A NOX3 Nonsynonymous SNV E264V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 255828 chr8 118533146 118533146 A G rs752115373 MED30 Nonsynonymous SNV M11V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 255829 chr6 159654784 159654784 C T FNDC1 Synonymous SNV D1080D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 255830 chr7 814765 814765 G T rs138948488 DNAAF5 Nonsynonymous SNV M735I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.481 255831 chr3 5024905 5024905 G T BHLHE40 Nonsynonymous SNV S256I 0.005 0.005 0 1 6 2 0.003 0 0 0 0 0 0.183 255832 chr1 2418793 2418793 G C PLCH2 Nonsynonymous SNV Q337H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 255833 chr6 160511119 160511119 C T IGF2R Synonymous SNV T2213T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 255834 chr8 12952468 12952468 - A rs762395391 DLC1 0.001 0 0 0 1 0 0 0 0 0 0 0 255835 chr6 167709611 167709611 A G UNC93A Nonsynonymous SNV T121A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 255836 chr6 168949828 168949828 T A rs372597491 SMOC2 Synonymous SNV P194P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.681 255837 chr6 170143232 170143232 G A rs372716699 TCTE3 Nonsynonymous SNV R144C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 255838 chr1 865700 865700 C T rs116730894 SAMD11 Nonsynonymous SNV R80C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 255839 chr1 909875 909875 G A rs148853412 PLEKHN1 Nonsynonymous SNV E551K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 255840 chr6 17601273 17601273 G C FAM8A1 Synonymous SNV A211A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.952 255841 chr6 17601336 17601336 G C FAM8A1 Nonsynonymous SNV E232D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 255842 chr7 94232658 94232658 T G rs116105264 SGCE Nonsynonymous SNV T216P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.4 255843 chr1 1019314 1019314 G T rs115613719 C1orf159 Synonymous SNV G307G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 255844 chr1 1120370 1120370 C G rs74046640 TTLL10 Nonsynonymous SNV L355V 0.002 0 0.007 0 2 0 0 2 0 0 0 0 22.9 255845 chr1 1120494 1120494 G A rs74046642 TTLL10 Nonsynonymous SNV R396H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 255846 chr9 132630420 132630420 G A rs762071131 USP20 Nonsynonymous SNV R276Q 0 0.005 0 0 0 2 0 0 0 0 0 0 18.32 255847 chr1 1153129 1153129 C T rs72894044 SDF4 Nonsynonymous SNV R323Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.695 255848 chr9 132637648 132637648 G A rs534600371 USP20 Nonsynonymous SNV R703Q 0 0.005 0 0 0 2 0 0 0 0 0 0 23.1 255849 chr1 1222598 1222598 C T rs74046669 SCNN1D Nonsynonymous SNV A410V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.412 255850 chr1 1226816 1226816 G A rs149776399 SCNN1D Synonymous SNV A745A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.487 255851 chr6 24797873 24797873 T C rs754369554 ARMH2 Nonsynonymous SNV E153G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.256 255852 chr1 1268348 1268348 G A rs111703380 TAS1R3 Synonymous SNV P441P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.196 255853 chr1 1386136 1386136 A G rs181534265 ATAD3C Nonsynonymous SNV K25E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 255854 chr1 1387432 1387432 G C rs112072883 ATAD3C Nonsynonymous SNV V28L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.879 255855 chr1 1387747 1387747 C T rs113110734 ATAD3C Nonsynonymous SNV A52V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 255856 chr8 101300093 101300093 C A RNF19A Nonsynonymous SNV D104Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 255857 chr1 1398064 1398064 C T rs113898522 ATAD3C Synonymous SNV I355I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 255858 chr1 1550844 1550844 - G rs562151581 MIB2 Frameshift insertion A4Gfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 255859 chr6 26087944 26087944 A G rs62625320 LOC108783645 0 0 0.014 0 0 0 0 4 0 0 0 0 4.011 255860 chr12 68708951 68708951 T C rs763166427 MDM1 Nonsynonymous SNV T146A 0 0 0 2 0 0 0.005 0 0 0 0 0 1.026 255861 chr6 2624262 2624262 T G rs1150656 LINC01600 0 0 0.014 0 0 0 0 4 0 0 1 0 4.192 255862 chr9 135275597 135275597 G A rs144643349 TTF1 Synonymous SNV S472S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.57 255863 chr3 62751567 62751567 G A rs768387474 CADPS Synonymous SNV N178N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 255864 chr1 2435831 2435833 TCC - rs555614613 PLCH2 S1148del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 255865 chr1 24996788 24996788 G A rs373063309 SRRM1 Synonymous SNV P709P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.32 255866 chr3 69153645 69153645 G A rs142039636 ARL6IP5 Nonsynonymous SNV R142Q 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 35 255867 chr1 3431981 3431981 C T rs74050560 MEGF6 Nonsynonymous SNV G239S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 255868 chr9 136915631 136915631 C T rs753201321 BRD3 Synonymous SNV T193T 0 0.005 0 0 0 2 0 0 0 0 0 0 18.15 255869 chr3 74420371 74420371 T C CNTN3 Nonsynonymous SNV T212A 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 255870 chr3 78766526 78766526 T G rs767162178 ROBO1 Synonymous SNV A233A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.23 255871 chr1 3679925 3679925 T C rs138987139 CCDC27 Nonsynonymous SNV L403P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 255872 chr10 127548237 127548237 G A rs775776642 DHX32 Nonsynonymous SNV L262F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 255873 chr1 5967244 5967244 C T rs35264155 NPHP4 Synonymous SNV P514P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.15 255874 chr1 6188926 6188926 C T rs377192793 CHD5 Synonymous SNV T1197T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 255875 chr1 6314183 6314183 C T rs114389068 GPR153 Synonymous SNV A127A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 255876 chr6 15487652 15487652 G A rs761828289 JARID2 Nonsynonymous SNV R90Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 255877 chr3 100455460 100455460 C T rs141786985 TFG Synonymous SNV P207P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 18.21 255878 chr6 34003446 34003446 T A GRM4 Nonsynonymous SNV K698M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 255879 chr6 34003458 34003458 T A GRM4 Nonsynonymous SNV Q694L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 255880 chr6 35610553 35610553 T C rs148043129 FKBP5 Nonsynonymous SNV T17A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 255881 chr1 8419868 8419868 - CTCCTT rs754336279 RERE E637_R638insKE 0.001 0 0 0 1 0 0 0 0 0 0 0 255882 chr1 8420672 8420672 G A rs112375285 RERE Synonymous SNV P411P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.341 255883 chr1 9083094 9083094 G T rs61744620 SLC2A7 Nonsynonymous SNV A65E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.14 255884 chr1 9640253 9640253 C A rs35819756 SLC25A33 Nonsynonymous SNV L242I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.947 255885 chr1 9670738 9670738 C A rs114072438 TMEM201 Nonsynonymous SNV P547H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22 255886 chr1 10179615 10179615 C T rs78118411 UBE4B Synonymous SNV R332R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.11 255887 chr1 10364578 10364578 A G rs142737643 KIF1B Nonsynonymous SNV N1112S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 255888 chr1 10421017 10421017 T C rs116089798 KIF1B Synonymous SNV D1316D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.994 255889 chr1 10523133 10523133 T A rs35783598 DFFA Nonsynonymous SNV L255F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 255890 chr1 10678439 10678439 G T rs12061667 PEX14 Nonsynonymous SNV A117S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.1 255891 chr1 11147523 11147523 T C rs138129068 EXOSC10 Synonymous SNV T357T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.889 255892 chr1 11561489 11561489 C T rs61736678 DISP3 Nonsynonymous SNV T147M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 255893 chr1 11589979 11589979 G A rs200940112 DISP3 Nonsynonymous SNV R1022H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 255894 chr4 113352014 113352014 C A rs145906942 ALPK1 Nonsynonymous SNV F359L 0.004 0.008 0 1 5 3 0.003 0 0 0 0 0 24.3 255895 chr6 41010518 41010518 G A rs41273356 TSPO2 0 0 0.017 0 0 0 0 5 0 0 0 0 0.073 255896 chr3 113342318 113342318 A G rs141835433 SIDT1 Nonsynonymous SNV Y655C 0 0 0 2 0 0 0.005 0 0 0 0 0 29.5 255897 chr6 41899229 41899229 G A rs368234137 BYSL Nonsynonymous SNV R267Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 255898 chr1 11836612 11836612 C T rs79002055 C1orf167 Synonymous SNV S752S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.586 255899 chr1 11836691 11836691 G C rs147301277 C1orf167 Nonsynonymous SNV A779P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 255900 chr1 39917881 39917881 G A MACF1 Synonymous SNV R4765R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.19 255901 chr8 144126110 144126110 C T rs185578539 C8orf31 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.197 255902 chr8 144332208 144332208 C T rs773810515 ZFP41 Synonymous SNV D65D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.44 255903 chr8 144378862 144378862 C T rs756949408 ZNF696 Synonymous SNV H339H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.05 255904 chr1 12010487 12010487 T G rs144702307 PLOD1 Nonsynonymous SNV F126V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.6 255905 chr1 12023632 12023632 G A rs2230896 PLOD1 Nonsynonymous SNV V381M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.69 255906 chr1 12049384 12049384 C T rs61733200 MFN2 Synonymous SNV S53S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.61 255907 chr1 12069725 12069725 G A rs144860227 MFN2 Nonsynonymous SNV A716T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 255908 chr3 119886355 119886355 G A GPR156 Nonsynonymous SNV P653S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.835 255909 chr1 12254015 12254015 T C rs2229700 TNFRSF1B Nonsynonymous SNV L264P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.26 255910 chr9 25677879 25677879 T C rs763970624 TUSC1 Synonymous SNV R147R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.008 255911 chr1 12820871 12820871 T A rs3010920 C1orf158 Nonsynonymous SNV F153Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.34 255912 chr1 15438826 15438837 TGTGTGTGTGTG - TMEM51-AS1 0.002 0.005 0 0 2 2 0 0 1 1 0 0 255913 chr4 128807488 128807488 A G rs370383580 PLK4 Synonymous SNV K289K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.165 255914 chr1 15707853 15707853 G A rs116545211 FHAD1 Nonsynonymous SNV D1288N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 255915 chr1 16053627 16053627 C T rs143372200 PLEKHM2 Nonsynonymous SNV R354C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.81 255916 chr8 145151145 145151145 G A CYC1 Nonsynonymous SNV A149T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 255917 chr1 16344307 16344307 T C rs145856313 HSPB7 Nonsynonymous SNV D51G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.1 255918 chr1 16344308 16344308 C T rs143636240 HSPB7 Nonsynonymous SNV D51N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 255919 chr1 16641851 16641851 C G rs145436337 FBXO42 Synonymous SNV V21V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 255920 chr1 16641882 16641882 C T rs140391145 FBXO42 Nonsynonymous SNV S11N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 255921 chr1 16727294 16727294 G A rs142728074 SPATA21 Synonymous SNV N342N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.156 255922 chr1 17312576 17312576 G C rs557545457 ATP13A2 Synonymous SNV P1127P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.39 255923 chr1 17413096 17413096 C T rs192937557 PADI2 Nonsynonymous SNV V252M 0.001 0 0 0 1 0 0 0 0 0 0 0 28 255924 chr1 17429489 17429489 T C rs34737582 PADI2 Synonymous SNV T114T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.066 255925 chr1 17586159 17586159 G A rs115356766 PADI3 Nonsynonymous SNV R60Q 0.002 0 0 0 2 0 0 0 1 0 0 0 23.9 255926 chr1 17596809 17596809 A G rs114505088 PADI3 Nonsynonymous SNV D245G 0.002 0 0 0 2 0 0 0 1 0 0 0 7.386 255927 chr1 17597398 17597398 A G rs139426141 PADI3 Nonsynonymous SNV T286A 0.002 0 0 0 2 0 0 0 1 0 0 0 Pathogenic 14.07 255928 chr3 126193803 126193803 G A rs778355055 ZXDC Synonymous SNV P302P 0 0 0 3 0 0 0.008 0 0 0 0 0 13.6 255929 chr6 26234726 26234726 C G rs41266813 H1-3 Nonsynonymous SNV A146P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.58 255930 chr1 17722113 17722113 C T rs2477149 PADI6 Synonymous SNV D524D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.698 255931 chr1 17961393 17961393 G A rs146168363 ARHGEF10L Synonymous SNV T306T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 255932 chr9 5968069 5968069 T C rs762652161 KIAA2026 Nonsynonymous SNV N721S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.95 255933 chr1 18434667 18434667 C T rs182077604 IGSF21 Synonymous SNV L15L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 255934 chr1 18808833 18808833 C A rs77562571 KLHDC7A Nonsynonymous SNV A453E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 255935 chr1 18809545 18809545 C A rs80110591 KLHDC7A Synonymous SNV I690I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 255936 chr8 42048924 42048924 A G rs777639136 PLAT Synonymous SNV H27H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 255937 chr1 19211987 19211987 C T rs113846237 ALDH4A1 Nonsynonymous SNV A85T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 255938 chr1 19497330 19497330 G A rs144748401 UBR4 Nonsynonymous SNV P1190L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 255939 chr1 19536706 19536706 C T UBR4 Nonsynonymous SNV A13T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 255940 chr1 19635012 19635012 G A rs140346171 AKR7A2 Synonymous SNV H141H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.673 255941 chr1 19653090 19653090 T C rs36093020 SLC66A1 Synonymous SNV L197L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.415 255942 chr8 61773534 61773534 C T rs761548538 CHD7 Synonymous SNV P2560P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.63 255943 chr6 76596570 76596570 T G MYO6 Synonymous SNV G839G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.091 255944 chr3 133538404 133538404 T C SRPRB Synonymous SNV L204L 0 0 0 3 0 0 0.008 0 0 0 0 0 3.652 255945 chr8 6669156 6669156 A T XKR5 Nonsynonymous SNV L542M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.023 255946 chr12 132522602 132522602 G A rs144183598 EP400 Synonymous SNV T2056T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 15.3 255947 chr9 97062138 97062138 G A rs144452859 ZNF169 Nonsynonymous SNV A101T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.727 255948 chr4 184605993 184605993 A G TRAPPC11 Synonymous SNV R522R 0.003 0.005 0 0 3 2 0 0 0 0 0 0 10.46 255949 chr1 65304232 65304232 C T rs188211265 JAK1 Synonymous SNV S961S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.61 255950 chr1 25944454 25944454 C G rs2982320 MAN1C1 Nonsynonymous SNV P56A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.44 255951 chr4 186578596 186578596 G A rs140939381 SORBS2 Synonymous SNV I152I 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.3 255952 chr1 26655232 26655232 C A rs759074056 CRYBG2 Nonsynonymous SNV G1483W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 255953 chr6 43008696 43008696 A T rs767543006 CUL7 Nonsynonymous SNV F1339I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.12 255954 chr3 164907758 164907758 A G rs146769812 SLITRK3 Synonymous SNV S287S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 0.004 255955 chr1 27212513 27212513 T C rs17856257 GPN2 Nonsynonymous SNV Q227R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 255956 chr1 27216531 27216531 G A rs17850358 GPN2 Synonymous SNV G19G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 255957 chr1 27320814 27320814 C G rs4077651 TRNP1 Synonymous SNV G179G 0.002 0 0 3 2 0 0.008 0 0 0 0 1 11.17 255958 chr10 70742391 70742391 G A rs143704466 DDX21 Synonymous SNV R657R 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 6.33 255959 chr1 27631495 27631495 C T rs56780255 WDTC1 Synonymous SNV N549N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 255960 chr1 28285123 28285123 G A rs34560878 SMPDL3B Nonsynonymous SNV R175H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.416 255961 chr1 31349677 31349677 C T rs145285466 SDC3 Nonsynonymous SNV A198T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.46 255962 chr1 31656832 31656832 T C rs12063290 NKAIN1 Synonymous SNV T101T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.137 255963 chr1 32256385 32256385 G A rs79907831 SPOCD1 Nonsynonymous SNV A637V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.019 255964 chr1 32660697 32660697 C G rs75073861 TXLNA Nonsynonymous SNV S514R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.88 255965 chr1 32669917 32669917 G A rs6697820 CCDC28B Synonymous SNV E154E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.93 255966 chr13 43500520 43500520 G A rs902358396 EPSTI1 Synonymous SNV D76D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.232 255967 chr1 32714193 32714193 C T rs35660601 FAM167B Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 255968 chr1 32827601 32827601 G C rs57541735 FAM229A Nonsynonymous SNV P31R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.493 255969 chr1 32829233 32829233 C T rs61746387 TSSK3 Synonymous SNV I61I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.193 255970 chr1 32936807 32936807 C T rs34958581 ZBTB8B Synonymous SNV C194C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 255971 chr1 33797901 33797901 C T rs149493908 PHC2 Synonymous SNV S86S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.06 255972 chr1 33820520 33820520 G A rs79627057 PHC2 Synonymous SNV P408P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.474 255973 chr1 34071065 34071065 C T rs147076022 CSMD2 Nonsynonymous SNV E2117K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 255974 chr1 34128590 34128590 C T rs115110975 CSMD2 Synonymous SNV P1385P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 255975 chr3 187440293 187440293 G A rs755174150 BCL6 Nonsynonymous SNV R636C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 33 255976 chr1 35580706 35580706 G A rs79035135 ZMYM1 Nonsynonymous SNV R1017H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.133 255977 chr1 35658585 35658585 G A rs114366853 SFPQ Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 255978 chr1 36772868 36772868 C G rs1875428 SH3D21 Nonsynonymous SNV I109M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 255979 chr10 87966168 87966168 G A rs145231070 GRID1 Nonsynonymous SNV T158M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 255980 chr1 36785853 36785853 C A rs2358729 SH3D21 Nonsynonymous SNV A419D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 255981 chr1 36785855 36785855 C T rs2358728 SH3D21 Nonsynonymous SNV H420Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 255982 chr1 37945956 37945956 G A rs34404723 ZC3H12A Nonsynonymous SNV R170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 255983 chr1 39340507 39340507 G A rs61741382 GJA9 Nonsynonymous SNV L422F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.62 255984 chr1 39341413 39341413 C T GJA9 Nonsynonymous SNV E120K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.239 255985 chr7 102949469 102949479 ATCCAGATACA - PMPCB P308Lfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 255986 chr1 39761506 39761506 G C rs116026083 MACF1 Synonymous SNV L774L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 255987 chr1 39775245 39775245 C T rs74718295 MACF1 Synonymous SNV V936V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 255988 chr7 103050931 103050931 C A rs770314412 SLC26A5 Synonymous SNV G212G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.36 255989 chr1 39846038 39846038 A G rs6673570 MACF1 Synonymous SNV E2485E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.482 255990 chr1 39853800 39853800 G A rs6691379 MACF1 Nonsynonymous SNV A3034T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 255991 chr1 39878175 39878175 G A rs376854788 KIAA0754 Synonymous SNV Q746Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 255992 chr1 39913402 39913402 C T rs181287038 MACF1 Synonymous SNV I4541I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 255993 chr1 39951442 39951442 C T rs149519812 MACF1 Synonymous SNV P5423P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.232 255994 chr7 107342433 107342433 C T rs151176078 SLC26A4 Synonymous SNV I655I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.42 255995 chr1 40527409 40527409 G A rs34497744 CAP1 Synonymous SNV A73A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.37 255996 chr4 366823 366823 C T ZNF141 Synonymous SNV Y123Y 0 0 0 2 0 0 0.005 0 0 0 0 0 4.663 255997 chr1 41481987 41481987 A G rs58181818 SLFNL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.013 255998 chr1 41483370 41483370 G A rs74071110 SLFNL1 Synonymous SNV P298P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.511 255999 chr1 42046782 42046782 C A rs61732495 HIVEP3 Synonymous SNV P1229P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.352 256000 chr1 42048779 42048779 C T rs777497573 HIVEP3 Nonsynonymous SNV D564N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 256001 chr7 121719705 121719705 T C AASS Nonsynonymous SNV E781G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 256002 chr1 43076654 43076654 C T rs16829795 CCDC30 Synonymous SNV V463V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.021 256003 chr1 43111853 43111853 G A rs61729295 CCDC30 Synonymous SNV L646L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.113 256004 chr1 43220652 43220652 C T rs61746653 P3H1 Synonymous SNV R411R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.21 256005 chr1 43738774 43738774 C T rs147533007 TMEM125 Synonymous SNV T127T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 256006 chr9 107331475 107331475 G T OR13C8 Synonymous SNV S9S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.442 256007 chr6 85473815 85473815 C G TBX18 Nonsynonymous SNV E29Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24 256008 chr1 45960833 45960833 G A rs12093444 CCDC163 Synonymous SNV P112P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 256009 chr1 45974776 45974776 C T rs16832550 MMACHC Synonymous SNV P189P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.13 256010 chr9 108363550 108363550 C G FKTN Nonsynonymous SNV S97C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 256011 chr1 46087600 46087600 G A rs145275607 CCDC17 Synonymous SNV L345L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.269 256012 chr7 130021964 130021964 G C CPA1 Nonsynonymous SNV D133H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 256013 chr9 130116145 130116145 G A rs141133974 GARNL3 Nonsynonymous SNV V522M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 256014 chr20 17933265 17933265 C T rs145056868 SNX5 Nonsynonymous SNV R55H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 256015 chr1 46511602 46511602 G A LOC110117498-PIK3R3, PIK3R3 Nonsynonymous SNV A236V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 256016 chr1 46739814 46739814 T C rs17102097 RAD54L Synonymous SNV L359L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.033 256017 chr1 46810763 46810763 C A rs17102152 NSUN4 Nonsynonymous SNV N79K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 256018 chr1 46976871 46976871 G C rs34614765 DMBX1 Nonsynonymous SNV A205P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.74 256019 chr7 137257579 137257579 A G DGKI Synonymous SNV D589D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.892 256020 chr1 51735708 51735708 T C rs142295415 RNF11 Synonymous SNV I68I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 256021 chr1 52498570 52498570 C T rs145892168 KTI12 Synonymous SNV A288A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 256022 chr1 52499362 52499362 C G rs112053753 KTI12 Synonymous SNV A24A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 256023 chr1 52823515 52823515 G C rs78522146 CC2D1B Nonsynonymous SNV P506R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.292 256024 chr7 138967894 138967894 A C UBN2 Nonsynonymous SNV E748A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 256025 chr1 53364875 53364875 C T rs111693547 ECHDC2 Nonsynonymous SNV G211S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 256026 chr1 53372199 53372199 C A rs76267730 ECHDC2 Nonsynonymous SNV R150L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 256027 chr1 53535687 53535687 C A rs77859237 PODN Nonsynonymous SNV L54M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 256028 chr1 53580593 53580593 C T rs148436837 SLC1A7 Nonsynonymous SNV V90I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 256029 chr1 53925390 53925390 C T rs748254618 DMRTB1 Synonymous SNV V88V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.387 256030 chr14 20612635 20612635 A G rs142814666 OR4N5 Nonsynonymous SNV I247M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.15 256031 chr20 30898259 30898259 G A rs138197776 KIF3B Nonsynonymous SNV E227K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 256032 chr7 1484637 1484637 C A rs761800574 MICALL2 Nonsynonymous SNV A357S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 256033 chr1 59041940 59041940 T C rs114373153 TACSTD2 Nonsynonymous SNV I297V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.883 256034 chr4 85600184 85600184 G T rs201206234 WDFY3 Synonymous SNV G3345G 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 10.44 256035 chr14 21558738 21558738 A C ZNF219 Nonsynonymous SNV L709R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 256036 chr1 60091687 60091687 G T rs113997663 FGGY Nonsynonymous SNV A48S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 256037 chr1 62330289 62330289 A G rs76414320 PATJ Nonsynonymous SNV Y940C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.984 256038 chr20 36758660 36758660 A G TGM2 Synonymous SNV A594A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.25 256039 chr1 62593750 62593750 G A rs113320923 PATJ Nonsynonymous SNV R1717Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 256040 chr7 150934824 150934824 G A rs577213295 CHPF2 Nonsynonymous SNV R459Q 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 256041 chr20 40161876 40161876 C T CHD6 Nonsynonymous SNV E123K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 256042 chr7 156802365 156802365 G A rs751803747 MNX1 Nonsynonymous SNV P227L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 256043 chr1 75622580 75622580 G T rs79714503 LHX8 Synonymous SNV V261V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.2 256044 chr1 82433751 82433751 C T rs755773803 ADGRL2 Synonymous SNV Y780Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.711 256045 chr4 62903554 62903554 C T rs182711326 ADGRL3 Nonsynonymous SNV R1138C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 256046 chr1 89735229 89735229 C G rs17130763 GBP5 Nonsynonymous SNV E4Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.529 256047 chr7 29690677 29690677 G A rs117145942 LOC646762 0 0 0.014 0 0 0 0 4 0 0 1 0 2.521 256048 chr20 49492606 49492606 G A BCAS4 Nonsynonymous SNV A188T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.088 256049 chr1 91843683 91843683 T C rs115101410 HFM1 Nonsynonymous SNV M432V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.5 256050 chr1 92181832 92181832 G A rs114901303 TGFBR3 Synonymous SNV G608G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 256051 chr1 92446333 92446333 T C rs79345990 BRDT Nonsynonymous SNV M428T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 256052 chr1 92789409 92789409 C T rs78030057 RPAP2 Nonsynonymous SNV A311V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.36 256053 chr1 93170151 93170151 T C rs144802688 EVI5 Synonymous SNV E144E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.226 256054 chr1 94032937 94032937 T C rs78349214 BCAR3 Nonsynonymous SNV N409S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.004 256055 chr1 94461749 94461749 C T rs77293072 ABCA4 Synonymous SNV V2244V 0.001 0 0.01 0 1 0 0 3 0 0 1 0 Conflicting interpretations of pathogenicity 1.047 256056 chr1 94495037 94495037 C G rs143272984 ABCA4 Nonsynonymous SNV E1501D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23 256057 chr14 55203892 55203892 C A SAMD4A Nonsynonymous SNV A289D 0 0 0 2 0 0 0.005 0 0 0 0 0 32 256058 chr1 94505604 94505604 A C rs61750126 ABCA4 Nonsynonymous SNV L1201R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 256059 chr1 94564446 94564446 C T rs140972064 ABCA4 Synonymous SNV T224T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.61 256060 chr9 135266183 135266183 G A rs374966991 TTF1 Nonsynonymous SNV R160W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 256061 chr1 97544543 97544543 G T rs114096998 DPYD Nonsynonymous SNV P1023T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 256062 chr4 82125830 82125830 G A rs141606971 PRKG2 Synonymous SNV G124G 0 0 0 2 0 0 0.005 0 0 0 0 0 11.32 256063 chr1 99730009 99730009 C A rs712896 PLPPR4 Nonsynonymous SNV Q2K 0.002 0 0 0 2 0 0 0 1 0 0 0 24.3 256064 chr1 100964826 100964826 C T rs139956023 CDC14A Nonsynonymous SNV A295V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.37 256065 chr1 101704572 101704572 C A rs61734752 S1PR1 Nonsynonymous SNV A11D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.64 256066 chr1 102312509 102312509 C T rs138066075 OLFM3 Synonymous SNV K7K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 256067 chr4 88344139 88344139 C T NUDT9 Nonsynonymous SNV R28C 0 0 0 2 0 0 0.005 0 0 0 0 0 15.9 256068 chr1 109256140 109256140 C T FNDC7 Nonsynonymous SNV S24L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 256069 chr7 47409003 47409003 T C TNS3 Nonsynonymous SNV R414G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.14 256070 chr9 137716495 137716495 C T rs375076580 COL5A1 Nonsynonymous SNV T1583M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 256071 chr1 109466760 109466760 C T rs79730689 GPSM2 Nonsynonymous SNV S580L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 256072 chr1 109815913 109815913 G A rs146906622 CELSR2 Nonsynonymous SNV G2822R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.53 256073 chr14 67745936 67745936 G A rs781290440 MPP5 Nonsynonymous SNV E17K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.11 256074 chr14 67768793 67768793 T C rs779470836 MPP5 Synonymous SNV T219T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.952 256075 chr1 110030311 110030311 A C rs78926405 ATXN7L2 Nonsynonymous SNV R227S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 256076 chr1 110036824 110036824 G A CYB561D1 Stop gain W21X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 256077 chr1 110038664 110038664 G A rs76604632 CYB561D1 Nonsynonymous SNV R101K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.929 256078 chr1 110466776 110466776 C T rs3208449 CSF1 Synonymous SNV A511A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.56 256079 chr1 110950276 110950276 C G rs138112058 LAMTOR5 Synonymous SNV P71P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 256080 chr7 64388448 64388448 A T rs141427676 ZNF273 Nonsynonymous SNV N248Y 0.001 0 0.01 0 1 0 0 3 0 0 0 0 3.704 256081 chr1 114225907 114225907 T C MAGI3 Synonymous SNV I1239I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.314 256082 chr7 141896504 141896504 G C MGAM2 Nonsynonymous SNV G1507A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 256083 chr9 140151398 140151398 A G rs919590003 NELFB Synonymous SNV P211P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.68 256084 chr9 86905125 86905125 T A rs746815618 SLC28A3 Nonsynonymous SNV T365S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 256085 chr7 77326171 77326171 C G rs751464901 RSBN1L Nonsynonymous SNV L129V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 256086 chr1 117617844 117617844 A G rs7535524 TTF2 Nonsynonymous SNV K213R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.001 256087 chr14 76948978 76948978 G A rs370195063 ESRRB Synonymous SNV P221P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 12.64 256088 chr1 118483460 118483460 C T rs113562447 WDR3 Nonsynonymous SNV P229L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.916 256089 chr1 120054146 120054146 C T rs4986951 HSD3B1 Synonymous SNV L56L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 256090 chr1 120166054 120166054 C T rs150352509 ZNF697 Synonymous SNV L304L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.251 256091 chr7 149133877 149133877 G A rs368317468 ZNF777 Synonymous SNV N376N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.98 256092 chr5 1474770 1474770 C T rs773176375 LPCAT1 Synonymous SNV T310T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.16 256093 chr7 149474062 149474062 T C rs201087823 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 15.82 256094 chr7 149474932 149474932 A T rs201780520 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 0.192 256095 chr7 149480714 149480714 G C rs200068033 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 1.261 256096 chr7 149482784 149482784 C T rs148856984 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 10.3 256097 chr7 149489413 149489413 C T rs199791816 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 14.7 256098 chr7 149490508 149490508 C T rs142512668 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 7.864 256099 chr1 145440065 145440065 A G rs781999351 TXNIP Nonsynonymous SNV K112E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 256100 chr7 149506207 149506207 A G rs561349590 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 4.97 256101 chr7 149506257 149506257 G A rs190326483 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 12.18 256102 chr7 149509714 149509714 T C rs191570910 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 11.35 256103 chr7 149512267 149512267 C T rs142728666 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 6.461 256104 chr7 149513111 149513111 T A rs200844215 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 7.85 256105 chr7 149515034 149515034 C T rs201476981 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 8.34 256106 chr7 92764689 92764693 AACTC - SAMD9L E198Qfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 256107 chr7 92764895 92764895 T G rs773313289 SAMD9L Nonsynonymous SNV K130N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.679 256108 chr7 149519258 149519258 C G rs182407573 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 256109 chr7 149519760 149519760 A C rs202144866 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 5.45 256110 chr7 149524970 149524970 C T rs199785616 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 8.662 256111 chr7 149529955 149529955 A G rs201034224 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 8.286 256112 chr7 149530985 149530985 G A rs375343778 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 5.073 256113 chrX 119681020 119681020 G A rs781772074 CUL4B Synonymous SNV H249H 0.002 0 0 0 2 0 0 0 1 0 0 0 9.754 256114 chr1 151016109 151016109 A G rs75353473 BNIPL Nonsynonymous SNV N171D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.989 256115 chr1 151021185 151021185 C G rs1132889 C1orf56 Nonsynonymous SNV P288A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 256116 chr4 151749370 151749370 T C rs369217802 LRBA Synonymous SNV L1711L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.32 256117 chr1 151501908 151501908 G A rs116788396 CGN Nonsynonymous SNV R660Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22 256118 chr4 153896828 153896828 C T rs753434824 FHDC1 Synonymous SNV G795G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 256119 chr9 35618065 35618065 C T rs140933365 CD72 Nonsynonymous SNV A46T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 256120 chr8 10466463 10466463 C T rs202110937 RP1L1 Synonymous SNV T1715T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 256121 chr1 152733797 152733797 - T rs143740958 KPRP *580delinsLKER* 0.002 0 0 0 2 0 0 0 0 0 0 0 256122 chr10 72015237 72015237 C T NPFFR1 Nonsynonymous SNV A257T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.728 256123 chr10 72358478 72358478 G A rs140260618 PRF1 Synonymous SNV P333P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.722 256124 chr4 162402226 162402226 C T rs758871689 FSTL5 Synonymous SNV Q508Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.346 256125 chr7 158334176 158334176 C T rs148215613 PTPRN2 Synonymous SNV T41T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.591 256126 chr1 153652013 153652013 G C rs149697676 NPR1 Synonymous SNV A143A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 256127 chr8 11619177 11619177 C T rs778188603 C8orf49 Synonymous SNV P85P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 256128 chr1 153652129 153652129 C T rs56019647 NPR1 Nonsynonymous SNV A182V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 256129 chr1 153659217 153659217 G A rs2228581 NPR1 Synonymous SNV G618G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.39 256130 chr1 153660686 153660686 C T rs2229835 NPR1 Synonymous SNV R802R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.89 256131 chr1 153914500 153914500 G A rs56190300 DENND4B Synonymous SNV A311A 0.001 0 0.01 0 1 0 0 3 0 0 0 0 12.42 256132 chr1 153916856 153916856 C G rs74115717 DENND4B Nonsynonymous SNV G10R 0.001 0 0.01 0 1 0 0 3 0 0 0 0 16.01 256133 chr4 177608606 177608606 C A rs745847895 VEGFC Nonsynonymous SNV V294F 0 0 0 1 0 0 0.003 0 0 0 0 0 31 256134 chr1 156046917 156046917 G A rs61764073 MEX3A Synonymous SNV N337N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.073 256135 chr1 156503828 156503828 G A rs80078241 IQGAP3 Synonymous SNV T1282T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 256136 chr1 156616846 156616846 G A rs138385366 BCAN Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 256137 chr7 27238776 27238776 G C rs766459219 HOXA13 Synonymous SNV P307P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.743 256138 chr7 27239076 27239076 C T HOXA13 Synonymous SNV A207A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 256139 chr1 158225130 158225130 G A rs11800924 CD1A Synonymous SNV L94L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.256 256140 chr1 158299299 158299299 C T rs11806249 CD1B Synonymous SNV Q249Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.669 256141 chr8 140744276 140744276 G A rs58740567 TRAPPC9 Synonymous SNV Y1066Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.377 256142 chr1 158325180 158325180 G A rs35116276 CD1E Nonsynonymous SNV S50N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 256143 chr4 189012707 189012707 G A rs200634456 TRIML2 Synonymous SNV H403H 0 0 0 2 0 0 0.005 0 0 0 0 0 2.586 256144 chr1 158325765 158325765 C T rs61734677 CD1E Synonymous SNV D69D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.173 256145 chr1 158326645 158326645 G A rs61734680 CD1E Nonsynonymous SNV V175I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256146 chr1 158435572 158435572 C T rs78779179 OR10K1 Nonsynonymous SNV T74I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 24.7 256147 chr1 158435573 158435573 C G rs76205582 OR10K1 Synonymous SNV T74T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 7.568 256148 chr1 158436201 158436201 T C rs76117330 OR10K1 Synonymous SNV L284L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.037 256149 chr1 158449854 158449854 G A rs62642484 OR10R2 Nonsynonymous SNV V63I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.004 256150 chr9 96051746 96051746 C T rs927772780 WNK2 Synonymous SNV A1570A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.41 256151 chr1 158615292 158615292 C A rs34214405 SPTA1 Nonsynonymous SNV R1330I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 29 256152 chr8 143921919 143921919 C T rs138131984 GML Synonymous SNV R22R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.61 256153 chr8 144126118 144126118 T C rs376138022 C8orf31 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 256154 chr1 159922175 159922175 C T rs34884993 SLAMF9 Nonsynonymous SNV E181K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 26.9 256155 chr1 160788067 160788067 G A rs74124285 LY9 Nonsynonymous SNV V378I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 256156 chr1 161969936 161969936 C A rs150924085 OLFML2B Nonsynonymous SNV V307F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 256157 chr22 24483532 24483532 C T rs150689358 CABIN1 Nonsynonymous SNV R1081W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 256158 chr5 16680079 16680079 G T MYO10 Nonsynonymous SNV Q1507K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.5 256159 chr22 25152644 25152644 G A rs536662572 PIWIL3 Synonymous SNV L128L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.228 256160 chr1 169292501 169292501 G C rs201299047 NME7 Synonymous SNV R44R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.601 256161 chr8 145641424 145641424 G A rs373992133 SLC39A4 Synonymous SNV L57L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.173 256162 chr22 26706745 26706745 A G rs201153704 SEZ6L Nonsynonymous SNV I542V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.033 256163 chr22 26706756 26706756 G C rs368332411 SEZ6L Synonymous SNV T545T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.68 256164 chr8 145675906 145675906 G A rs375865347 CYHR1 Synonymous SNV P357P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.054 256165 chr1 170633511 170633511 C T PRRX1 Nonsynonymous SNV A51V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.29 256166 chr10 114905836 114905836 C T rs145083306 TCF7L2 Synonymous SNV T142T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.26 256167 chr5 35921114 35921114 C T rs151068422 CAPSL Nonsynonymous SNV G37S 0.004 0 0 4 5 0 0.01 0 0 0 0 0 33 256168 chr1 173542378 173542378 T C SLC9C2 Nonsynonymous SNV Y330C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.601 256169 chr8 17612414 17612414 G A MTUS1 Synonymous SNV V301V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.485 256170 chr5 36629558 36629558 T C rs138559945 SLC1A3 Nonsynonymous SNV I63T 0.005 0 0 4 6 0 0.01 0 0 0 0 0 12.82 256171 chr1 173962061 173962061 G A rs752376468 RC3H1 Synonymous SNV F21F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 256172 chrX 144904813 144904813 T G rs371180123 SLITRK2 Nonsynonymous SNV N290K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.28 256173 chr10 116082956 116082956 G A AFAP1L2 Nonsynonymous SNV A127V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 256174 chr5 55407585 55407585 G - rs759482707 ANKRD55 S331Pfs*117 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 256175 chr11 102195952 102195952 C G rs141682743 BIRC3 Nonsynonymous SNV Q238E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.001 256176 chr22 36690179 36690179 G T MYH9 Nonsynonymous SNV R1266S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 256177 chr7 6547975 6547975 C T rs954106974 GRID2IP Nonsynonymous SNV D729N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 256178 chr5 56778278 56778282 ATCTT - ACTBL2 K85Lfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 256179 chr5 56778284 56778284 - GGTGGGA ACTBL2 Frameshift insertion E84Vfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 256180 chr1 186022205 186022205 A G rs200609012 HMCN1 Synonymous SNV K2233K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 256181 chrX 19764512 19764512 T G rs914493850 SH3KBP1 Synonymous SNV P33P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.363 256182 chr8 28974411 28974411 G A rs375988969 KIF13B Synonymous SNV S1258S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 256183 chr1 198666001 198666001 G A rs780344153 PTPRC Synonymous SNV P87P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.78 256184 chr1 200014582 200014582 G A rs34231860 NR5A2 Synonymous SNV K39K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.02 256185 chr1 200378773 200378773 C A rs548362759 ZNF281 Nonsynonymous SNV G21C 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 22.5 256186 chr8 30700386 30700386 C T rs61743684 TEX15 Nonsynonymous SNV E2433K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.008 256187 chr8 30702616 30702616 C G rs61736162 TEX15 Nonsynonymous SNV E1689D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 22.8 256188 chr10 127806654 127806654 C T rs377630592 ADAM12 Nonsynonymous SNV A186T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 256189 chr8 30706702 30706702 T G rs140274916 TEX15 Synonymous SNV A327A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.443 256190 chr1 200955992 200955992 G A rs139250432 KIF21B Synonymous SNV Y1223Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.732 256191 chr7 7712942 7712968 AGCAGCAGCAGCAGCAGCAGCAGCAGC - UMAD1 0.001 0 0 0 1 0 0 0 0 0 0 0 256192 chrX 32632508 32632508 G C DMD Nonsynonymous SNV T457R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 256193 chr11 108409859 108409859 G T EXPH5 Nonsynonymous SNV P36Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.1 256194 chr7 81679917 81679917 C T rs201186220 CACNA2D1 Nonsynonymous SNV E303K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.934 256195 chr8 38677781 38677781 A G TACC1 Nonsynonymous SNV K145R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 256196 chr1 201180270 201180270 G C rs781210578 IGFN1 Synonymous SNV G2083G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.522 256197 chr1 201180280 201180280 G A rs749082053 IGFN1 Nonsynonymous SNV G2087S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15 256198 chr5 78378766 78378766 G T rs771630750 BHMT2 Nonsynonymous SNV R131S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 256199 chr8 41792161 41792161 C T rs34620183 KAT6A Nonsynonymous SNV V1193I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.305 256200 chr8 43054644 43054644 G A rs73675469 HGSNAT Nonsynonymous SNV V550I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.004 256201 chr8 49832934 49832934 C T rs79619080 SNAI2 Nonsynonymous SNV S49N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.68 256202 chrX 50350407 50350407 C T SHROOM4 Synonymous SNV S1245S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 256203 chr7 91712573 91712573 A G AKAP9 Synonymous SNV L2750L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 256204 chr1 201358355 201358355 A T rs147349802 LAD1 Nonsynonymous SNV S39T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 256205 chrX 54321088 54321088 C A rs782320716 WNK3 Nonsynonymous SNV A531S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 256206 chr1 202104616 202104616 T C rs61758714 ARL8A Synonymous SNV A137A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.49 256207 chr1 202129838 202129838 C T rs76660901 PTPN7 Nonsynonymous SNV R33Q 0.002 0 0 0 2 0 0 0 0 0 0 0 7.342 256208 chr1 202172963 202172963 T C rs77623639 LGR6 Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.24 256209 chr1 203024749 203024749 C T rs144661494 PPFIA4 Synonymous SNV L673L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 256210 chr1 203455838 203455838 C A rs78674036 PRELP Synonymous SNV I326I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.73 256211 chr1 203769170 203769170 A C rs76919946 ZBED6 Synonymous SNV S840S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 256212 chr1 204394023 204394023 G C rs61758020 PIK3C2B Nonsynonymous SNV T1621S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.2 256213 chr1 204412558 204412558 G T rs61763415 PIK3C2B Nonsynonymous SNV P1012Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.7 256214 chr1 205027728 205027728 C T rs143259493 CNTN2 Nonsynonymous SNV P142S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.2 256215 chr1 205902130 205902130 A T rs75021701 SLC26A9 Nonsynonymous SNV Y70N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.13 256216 chr1 207071206 207071206 T C rs75762018 IL24 Nonsynonymous SNV L10P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.15 256217 chr1 207131878 207131878 T C rs61729353 FCAMR Nonsynonymous SNV R573G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 256218 chr8 92261930 92261930 T A SLC26A7 Nonsynonymous SNV H17Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.483 256219 chr1 207195652 207195652 C T rs75834119 C1orf116 Nonsynonymous SNV R240H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 256220 chr22 50750996 50750996 C T rs375517464 DENND6B Nonsynonymous SNV A506T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.97 256221 chr1 207196014 207196014 G A rs111307067 C1orf116 Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.081 256222 chr1 207646467 207646467 C G rs755692271 CR2 Nonsynonymous SNV Q641E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.648 256223 chr8 95751934 95751934 T C rs75768977 DPY19L4 Nonsynonymous SNV V176A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 256224 chr5 112349083 112349083 G A rs150445267 DCP2 Nonsynonymous SNV V354M 0 0 0 2 0 0 0.005 0 0 0 0 0 13.99 256225 chr1 209933621 209933621 G A rs142067702 TRAF3IP3 Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.869 256226 chr15 79750312 79750312 G A rs373965120 MINAR1 Nonsynonymous SNV R608Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 256227 chr15 80855476 80855476 C T ARNT2 Synonymous SNV R404R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 15.39 256228 chr1 211545524 211545524 C A rs113770101 TRAF5 Nonsynonymous SNV A385E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 256229 chr9 101546339 101546339 C T rs373872443 ANKS6 Synonymous SNV T336T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.02 256230 chr9 101983874 101983874 C T rs371910648 ALG2 Synonymous SNV V101V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.48 256231 chr11 59283327 59283327 A G OR4D9 Synonymous SNV Q314Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 256232 chr1 216073427 216073427 G A rs78250390 USH2A Synonymous SNV T2528T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.89 256233 chr1 220162029 220162029 G T rs5030751 EPRS1 Nonsynonymous SNV P893H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 256234 chr1 220267599 220267599 C T rs2577154 IARS2 Nonsynonymous SNV A14V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.18 256235 chr1 220287740 220287740 A G rs11800305 IARS2 Nonsynonymous SNV I522V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.4 256236 chr1 220356184 220356184 T C rs2577126 RAB3GAP2 Synonymous SNV T696T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.953 256237 chr1 222696004 222696004 C A rs61739371 HHIPL2 Nonsynonymous SNV S705I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.373 256238 chr1 222715403 222715403 C T rs778227654 HHIPL2 Nonsynonymous SNV G357R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 256239 chr1 222753212 222753212 A C rs17163271 TAF1A Nonsynonymous SNV I98M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.09 256240 chr1 223178012 223178012 C T rs149359302 DISP1 Synonymous SNV F1091F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.31 256241 chr1 223178520 223178520 G A rs61746480 DISP1 Nonsynonymous SNV V1261M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 1.74 256242 chr1 223959891 223959891 A C rs2230082 CAPN2 Nonsynonymous SNV K599Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.66 256243 chr1 224492744 224492744 T C rs116571578 NVL Nonsynonymous SNV Q31R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.68 256244 chr1 225267066 225267066 A G rs12081290 DNAH14 Nonsynonymous SNV H861R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.701 256245 chr2 11758850 11758850 C T GREB1 Synonymous SNV L1283L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.026 256246 chr2 11810064 11810064 G T rs11556847 NTSR2 Synonymous SNV R64R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.527 256247 chr10 121692608 121692608 C T rs144049236 SEC23IP Synonymous SNV Y950Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.901 256248 chr15 90349256 90349256 C T ANPEP Nonsynonymous SNV A187T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 256249 chr15 91026607 91026607 G T rs77416140 IQGAP1 Nonsynonymous SNV L1190F 0 0 0 2 0 0 0.005 0 0 0 0 0 26.6 256250 chr1 226034913 226034913 G A rs58852301 TMEM63A Nonsynonymous SNV P751L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 256251 chr1 226050503 226050503 G A rs10915888 TMEM63A Synonymous SNV N265N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.583 256252 chr1 226109804 226109804 G T rs74150559 MIR6741 0.002 0 0 0 2 0 0 0 1 0 0 0 0.21 256253 chr1 226568824 226568824 G A rs61731503 PARP1 Synonymous SNV L415L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.08 256254 chr1 227935417 227935417 C T rs58295986 SNAP47 Nonsynonymous SNV R39C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.107 256255 chr2 127453638 127453638 G A GYPC Nonsynonymous SNV E84K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 256256 chr1 228399993 228399993 G C rs762532673 OBSCN Nonsynonymous SNV R170P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 256257 chr1 228404297 228404297 G A rs116554705 OBSCN Synonymous SNV S757S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.687 256258 chr1 228412197 228412197 C T rs1771481 OBSCN Synonymous SNV R897R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.962 256259 chr1 228437748 228437748 C T rs7543501 OBSCN Synonymous SNV C1372C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.295 256260 chr9 126143762 126143762 C T rs547365850 DENND1A Synonymous SNV P1004P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 256261 chr1 228503567 228503567 G A rs532984 OBSCN Synonymous SNV R4344R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.187 256262 chr1 228596778 228596778 - C rs199946126 TRIM17 Frameshift insertion S327Ffs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 256263 chr1 229685162 229685162 C T rs12080811 ABCB10 Synonymous SNV T179T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.467 256264 chr1 230979564 230979564 G A rs114652630 C1orf198 Synonymous SNV L25L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.194 256265 chr1 231299540 231299540 C T rs181618687 TRIM67 Synonymous SNV P275P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.284 256266 chr1 231320920 231320920 C T rs11802835 LOC149373 Nonsynonymous SNV R71H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.115 256267 chr1 231471477 231471477 G C rs116427277 EXOC8 Nonsynonymous SNV A672G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.78 256268 chr1 231473111 231473111 C G rs112630019 EXOC8 Synonymous SNV A127A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 3.228 256269 chr1 231837913 231837913 T G rs182654003 TSNAX-DISC1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.985 256270 chr9 131767432 131767432 C T NUP188 Synonymous SNV L1481L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 256271 chr1 234367440 234367440 G A SLC35F3 Synonymous SNV G118G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 256272 chr1 234744755 234744755 G A rs569752954 IRF2BP2 Synonymous SNV F162F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 256273 chr9 136202936 136202936 G A rs782739896 SURF6 Stop gain Q12X 0 0 0.007 0 0 0 0 2 0 0 0 0 36 256274 chr1 236767360 236767360 G T rs149147735 HEATR1 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 256275 chr11 3249842 3249842 A G rs202197260 MRGPRE Nonsynonymous SNV L63P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 256276 chr1 236908041 236908041 C T rs114008185 ACTN2 Synonymous SNV R457R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 19.65 256277 chr1 240256066 240256066 - CAG rs532298569 FMN2 Q225_L226insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 256278 chr1 240256187 240256187 G A rs147858483 FMN2 Nonsynonymous SNV A260T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.65 256279 chr1 241803317 241803317 C G rs73139034 OPN3 Synonymous SNV L80L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.84 256280 chr1 242015709 242015709 A G rs4149865 EXO1 Nonsynonymous SNV R93G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.7 256281 chr1 242035433 242035433 C A rs4149964 EXO1 Nonsynonymous SNV S456Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27 256282 chr8 17409285 17409285 G A rs777700350 SLC7A2 Nonsynonymous SNV R282Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 256283 chr5 159834560 159834560 G A SLU7 Synonymous SNV L365L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.32 256284 chr9 139234219 139234219 C T rs369402356 GPSM1 Nonsynonymous SNV R344C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 256285 chr1 246518362 246518362 C T rs142323814 SMYD3 Nonsynonymous SNV V67I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 256286 chr9 139562813 139562813 G A rs777137452 EGFL7 Nonsynonymous SNV G27S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 256287 chr1 247267258 247267258 G A rs61730461 ZNF669 Nonsynonymous SNV L82F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.027 256288 chr1 247267488 247267488 A G rs61730462 ZNF669 Nonsynonymous SNV L5P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 256289 chr2 172379085 172379085 G A CYBRD1 Synonymous SNV L10L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.59 256290 chr2 176945342 176945368 AGCCGCGGCCGCCGCGCCTGAGGCTGC - rs747369034 EVX2 A300_A308del 0 0 0 1 0 0 0.003 0 0 0 0 0 256291 chr1 248059045 248059045 C A rs113762641 OR2W3 Nonsynonymous SNV P53T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 256292 chr1 248084321 248084321 T C rs148810697 OR2T8 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 256293 chr1 248113006 248113006 A G rs147562796 OR2L8 Nonsynonymous SNV M283V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 256294 chr1 248185654 248185654 G A OR2L5 Nonsynonymous SNV M135I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 256295 chr5 177547210 177547210 C T rs775757520 N4BP3 Nonsynonymous SNV T121M 0 0 0 2 0 0 0.005 0 0 0 0 0 12.92 256296 chr9 18928704 18928704 A T SAXO1 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 256297 chr1 248263447 248263447 C T rs116383269 OR2L13 Nonsynonymous SNV T257I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 256298 chr1 248309323 248309323 C G rs142148433 OR2M5 Nonsynonymous SNV L292V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 256299 chr9 21967291 21967291 T G rs201859802 CDKN2A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.232 256300 chr1 248525288 248525291 TACG - rs141576206 OR2T4 Stop gain Y136* 0.001 0 0 0 1 0 0 0 0 0 0 0 256301 chr9 27455299 27455299 C T rs202151673 MOB3B Nonsynonymous SNV E84K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 256302 chr1 248756152 248756152 G A rs61732538 OR2T10 Synonymous SNV S306S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.376 256303 chr1 248756272 248756272 T G rs61998193 OR2T10 Nonsynonymous SNV Q266H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 256304 chr1 248844711 248844711 T C rs148884002 OR14I1 Nonsynonymous SNV M299V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256305 chr1 248845025 248845025 T C rs141569215 OR14I1 Nonsynonymous SNV E194G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 256306 chr9 35733418 35733418 A T rs764012941 CREB3 Nonsynonymous SNV D124V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 256307 chr9 37974697 37974697 G T SHB Nonsynonymous SNV P326T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 256308 chr2 3599855 3599855 G A rs146794938 RNASEH1 Synonymous SNV S70S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.462 256309 chr6 7405242 7405242 G A rs34455054 RIOK1 Nonsynonymous SNV A258T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.093 256310 chr2 3744990 3744990 G A rs35124934 ALLC Nonsynonymous SNV R265Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 256311 chr2 3749119 3749119 T C rs6730396 ALLC Nonsynonymous SNV C290R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25 256312 chr2 8940558 8940558 T C KIDINS220 Nonsynonymous SNV K292R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 256313 chr6 13615632 13615632 G - NOL7 A15Rfs*53 0 0 0 1 0 0 0.003 0 0 0 0 0 256314 chr2 10933294 10933294 C T rs114716918 PDIA6 Synonymous SNV A127A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 256315 chr8 67357500 67357500 A G ADHFE1 Nonsynonymous SNV Y134C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 256316 chr8 68062098 68062098 G C rs761009916 CSPP1 Nonsynonymous SNV V648L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 256317 chr2 11853939 11853939 G T LPIN1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 256318 chr9 78943103 78943103 G - rs774897500 PCSK5 P1481Rfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 256319 chr2 20133254 20133254 C A rs149667250 WDR35 Nonsynonymous SNV V856F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.1 256320 chr8 82391720 82391720 C G rs148632765 FABP4 Nonsynonymous SNV V93L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 256321 chr2 24245714 24245714 C T rs201878806 MFSD2B Nonsynonymous SNV P334L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 256322 chr2 24245720 24245720 G C rs188718007 MFSD2B Nonsynonymous SNV W336S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 256323 chr2 202626391 202626391 T C rs191980454 ALS2 Nonsynonymous SNV N109S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 256324 chr9 94950918 94950918 C T rs185269296 PRSS47 Nonsynonymous SNV D73N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.708 256325 chr2 26410568 26410568 T C rs10201043 GAREM2 Synonymous SNV S689S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256326 chr2 26432662 26432662 G T rs2229420 HADHA Nonsynonymous SNV Q358K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.51 256327 chr9 96021472 96021472 C T rs759690956 WNK2 Nonsynonymous SNV P881L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 256328 chr8 95503832 95503832 C G VIRMA Nonsynonymous SNV R1705T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 256329 chr2 26686896 26686896 C T rs11893228 OTOF Nonsynonymous SNV R990H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 256330 chr9 96827078 96827078 C G PTPDC1 Nonsynonymous SNV N19K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.667 256331 chr2 27315266 27315266 C T rs112920456 KHK Synonymous SNV L53L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.9 256332 chr2 27354687 27354687 C T rs111884407 PREB Nonsynonymous SNV V280M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 256333 chrUn_gl000220 122142 122147 TCCTCC - LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 256334 chr2 27460669 27460669 C T rs73921501 CAD Synonymous SNV A1486A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.6 256335 chr10 75529769 75529769 C T rs769883677 SEC24C Nonsynonymous SNV P953L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 256336 chr2 27560834 27560834 G A rs146303694 GTF3C2 Synonymous SNV I303I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 256337 chr2 27593646 27593646 C T rs111240887 SNX17 Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 256338 chr2 27597269 27597269 A T rs111297930 SNX17 Nonsynonymous SNV S169C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 256339 chr2 27600778 27600778 G A rs112828880 ZNF513 Synonymous SNV L358L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.048 256340 chr2 27822490 27822490 G A rs112688190 ZNF512 Synonymous SNV R29R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 256341 chr2 27855531 27855531 T C rs147354424 GPN1 Nonsynonymous SNV M20T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 256342 chr2 27907975 27907975 G A rs147641311 SLC4A1AP Synonymous SNV E649E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 256343 chr16 64981932 64981932 A G CDH11 Synonymous SNV D529D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.134 256344 chr2 28050468 28050468 A G rs138952225 RBKS Nonsynonymous SNV I254T 0.001 0 0 0 1 0 0 0 0 0 0 0 28 256345 chrX 114414249 114414249 C T rs181374978 LRCH2 Synonymous SNV E229E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.975 256346 chr2 29240734 29240734 C T rs79578330 TOGARAM2 Synonymous SNV S424S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.643 256347 chr2 29245086 29245086 G T rs114464050 TOGARAM2 Nonsynonymous SNV D420Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 256348 chr2 21232845 21232845 C G rs12713681 APOB Nonsynonymous SNV D2299H 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.56 256349 chr2 21361203 21361203 G A rs566716223 TDRD15 Synonymous SNV T288T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.231 256350 chr2 31215798 31215798 C T rs142294042 GALNT14 Nonsynonymous SNV V69I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 21.9 256351 chr2 31595176 31595176 C T rs141314828 XDH Nonsynonymous SNV V592M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.9 256352 chrX 140993842 140993842 - CTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT MAGEC1 R220_T221insSQRTSEGFAQSPLQIPVSSSSSSTLLSLFQSSPERTQSTFEGFPQSPLQIPVSRSFSSTLLSIFQSSPERTQSTFEGFAQSPLQIPVSPSFSSTLLSLFQSFSER 0 0 0.003 0 0 0 0 1 0 0 0 0 256353 chr6 71508415 71508415 C T rs140648221 SMAP1 Nonsynonymous SNV P157L 0 0.005 0 0 0 2 0 0 0 1 0 0 23.3 256354 chr9 114994514 114994514 T C rs758572944 PTBP3 Synonymous SNV L228L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.392 256355 chr2 43902848 43902848 C A rs73923830 C1GALT1C1L Nonsynonymous SNV C205F 0.002 0 0.003 0 2 0 0 1 1 0 0 0 10.44 256356 chr2 43926973 43926973 C T rs144320544 PLEKHH2 Synonymous SNV D292D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.968 256357 chr2 44016824 44016824 A C rs142464485 DYNC2LI1 Nonsynonymous SNV D95A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.1 256358 chr2 44037613 44037613 A G rs116774215 DYNC2LI1 Nonsynonymous SNV K363E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 256359 chr2 44101079 44101079 C T rs115227860 ABCG8 Synonymous SNV I454I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.44 256360 chr10 97636400 97636400 T C ENTPD1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 6.987 256361 chr9 117552809 117552809 T G rs138476552 TNFSF15 Nonsynonymous SNV M168L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 256362 chr2 47602434 47602434 C T rs148725106 EPCAM Nonsynonymous SNV R163W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.5 256363 chr2 48026286 48026286 C T rs55708305 MSH6 Synonymous SNV H258H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.26 256364 chr2 48027394 48027394 C T rs56371757 MSH6 Synonymous SNV L628L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.236 256365 chr2 48602231 48602231 A T rs34829742 FOXN2 Synonymous SNV A315A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.111 256366 chr2 49003423 49003423 G C rs115285184 STON1-GTF2A1L Nonsynonymous SNV G1149A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.415 256367 chr6 51483994 51483994 A G rs199900211 PKHD1 Nonsynonymous SNV L4037P 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.2 256368 chr2 54036371 54036371 T C rs13430101 ERLEC1 Synonymous SNV Y300Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.38 256369 chr2 54125479 54125479 A G rs77708338 PSME4 Synonymous SNV N1145N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.312 256370 chrX 19378904 19378904 C T rs61744590 MAP3K15 Nonsynonymous SNV R1302K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 256371 chr2 55187426 55187426 A G EML6 Nonsynonymous SNV T1642A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 256372 chr2 55276928 55276928 G T rs200650924 RTN4 Nonsynonymous SNV P170H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 256373 chr2 61390027 61390027 C G rs77314294 C2orf74 Nonsynonymous SNV A56G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 256374 chr2 61571095 61571095 T G rs11891480 USP34 Synonymous SNV S785S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.14 256375 chrX 46495073 46495073 C T rs141987517 SLC9A7 Nonsynonymous SNV E543K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 256376 chr2 65298752 65298752 T A rs148435152 CEP68 Synonymous SNV G174G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.086 256377 chrX 48858631 48858631 C A rs782281062 GRIPAP1 Nonsynonymous SNV A4S 0.002 0 0.003 0 2 0 0 1 1 0 0 0 23.5 256378 chr9 125613643 125613643 G A rs201920127 RC3H2 Nonsynonymous SNV L1007F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 256379 chrX 49049824 49049824 C T rs797044879 SYP Nonsynonymous SNV E174K 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Uncertain significance 26.2 256380 chr2 69093288 69093288 G T rs2231345 BMP10 Nonsynonymous SNV N250K 0.002 0 0 1 2 0 0.003 0 1 0 0 0 Benign 3.823 256381 chr9 127557410 127557410 G A OLFML2A Synonymous SNV E154E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.22 256382 chr2 71212293 71212293 C T rs56204570 ANKRD53 Nonsynonymous SNV R486W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 256383 chrX 72783262 72783270 GAGGAGGAA - rs751226621 CHIC1 E66_E68del 0 0 0.003 0 0 0 0 1 0 0 0 0 256384 chr2 71220856 71220856 G A rs73937099 TEX261 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 256385 chr2 71655733 71655733 G C rs114489501 ZNF638 Nonsynonymous SNV V1868L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 256386 chr2 71740953 71740953 C G rs13407355 DYSF Nonsynonymous SNV L190V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.74 256387 chr2 71801440 71801440 G A rs59915619 DYSF Nonsynonymous SNV R1082H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 256388 chr2 73198777 73198777 G A rs112976123 SFXN5 Synonymous SNV Y198Y 0.002 0 0 0 2 0 0 0 1 0 0 0 8.581 256389 chr2 73651937 73651937 A G rs28730849 ALMS1 Nonsynonymous SNV T382A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 256390 chr2 74326720 74326720 G A rs199813676 TET3 Synonymous SNV A1102A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 256391 chr2 74328874 74328874 C T rs116688476 TET3 Synonymous SNV G1560G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.55 256392 chr2 74701683 74701683 G A rs144084644 CCDC142 Nonsynonymous SNV P748L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 256393 chr2 74718680 74718680 C T rs114933629 TTC31 Nonsynonymous SNV R253C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 256394 chr2 74726496 74726496 G A rs114058045 LBX2 Nonsynonymous SNV R57C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 256395 chr2 74754381 74754381 G A rs115791197 AUP1 Synonymous SNV A357A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.199 256396 chr2 74761849 74761849 G A rs374923362 LOXL3 Synonymous SNV I183I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.292 256397 chr2 74763248 74763248 G A rs114785633 LOXL3 Nonsynonymous SNV R14C 0.003 0 0 0 3 0 0 0 0 0 0 0 29 256398 chr2 74763450 74763450 C T rs77262790 LOXL3 Nonsynonymous SNV R209Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.6 256399 chr2 84896418 84896418 C A rs17025400 DNAH6 Synonymous SNV P2030P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.36 256400 chr2 84932866 84932866 G A rs17025503 DNAH6 Nonsynonymous SNV A2908T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 28 256401 chr2 85046475 85046475 G A rs7584208 DNAH6 Synonymous SNV R4140R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 256402 chr6 110007082 110007082 C G AK9 Nonsynonymous SNV G57A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.628 256403 chr6 110301000 110301000 C T rs775848901 GPR6 Synonymous SNV L229L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.993 256404 chr6 111283609 111283609 A G GTF3C6 Nonsynonymous SNV N88D 0 0 0 2 0 0 0.005 0 0 0 0 0 14.42 256405 chr11 112072842 112072842 C A BCO2 Nonsynonymous SNV Q302K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 256406 chr2 88857314 88857314 T C rs10208681 EIF2AK3 Synonymous SNV S946S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.26 256407 chr2 96993691 96993691 G A rs114832056 ITPRIPL1 Nonsynonymous SNV R449H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 256408 chr2 26637280 26637283 AGAA - rs867188875 DRC1 E77Kfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 256409 chr11 114453556 114453556 G A rs191556206 NXPE4 Nonsynonymous SNV T95I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 256410 chr2 99172095 99172095 T C rs376518745 INPP4A Nonsynonymous SNV L549P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 256411 chr2 99181108 99181108 C T rs111489045 INPP4A Synonymous SNV T628T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.12 256412 chr17 4448324 4448324 C T rs9910964 MYBBP1A Synonymous SNV A769A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.2 256413 chr2 101624332 101624332 - AAG rs150740812 TBC1D8 T1124_F1125insS 0.001 0 0 0 1 0 0 0 0 0 0 0 256414 chr17 4693401 4693401 T C rs201907488 GLTPD2 Nonsynonymous SNV L229P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 256415 chr2 101654169 101654169 G C rs113562002 TBC1D8 Nonsynonymous SNV A411G 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.122 256416 chr17 4847857 4847857 C T rs141830959 RNF167 Synonymous SNV D190D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 256417 chr2 102083255 102083255 G A rs111857117 RFX8 Nonsynonymous SNV P19L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 256418 chr11 11969593 11969593 G A rs764509081 USP47 Nonsynonymous SNV V891M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 256419 chr2 103335028 103335028 C T rs151328312 MFSD9 Nonsynonymous SNV A365T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 256420 chr2 105889394 105889394 C T rs61738979 TGFBRAP1 Synonymous SNV K630K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.699 256421 chr2 106690368 106690368 G A rs10187689 ECRG4 Nonsynonymous SNV A52T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 256422 chr2 108622589 108622589 C T rs78245030 SLC5A7 Synonymous SNV L171L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.95 256423 chr7 113522375 113522375 A C PPP1R3A Nonsynonymous SNV S261R 0.005 0.003 0 1 6 1 0.003 0 0 0 0 0 21.2 256424 chr2 109547428 109547428 C T rs151195196 EDAR Nonsynonymous SNV V15I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.194 256425 chr10 133761061 133761061 G A rs781860845 PPP2R2D Nonsynonymous SNV S118N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.62 256426 chr2 109746084 109746084 C G rs542151036 SH3RF3 Nonsynonymous SNV R30G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 256427 chr2 110332223 110332223 T C rs185846561 SEPTIN10 Nonsynonymous SNV I46V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 256428 chr2 110372688 110372688 C G rs72938294 SOWAHC Nonsynonymous SNV L208V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.664 256429 chr2 111691153 111691153 G T rs149252518 ACOXL Synonymous SNV L331L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.834 256430 chr2 111918994 111918994 A G rs76245002 BCL2L11 0.002 0 0 0 2 0 0 0 0 0 0 0 4.052 256431 chr2 112754942 112754942 A G rs35858762 MERTK Nonsynonymous SNV N498S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.026 256432 chr2 39033787 39033787 T G rs572038184 DHX57 Synonymous SNV R1142R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.74 256433 chr2 113416783 113416783 G A rs113994840 SLC20A1 Nonsynonymous SNV A351T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.202 256434 chr2 113994141 113994141 C T rs76355236 PAX8-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.539 256435 chr2 119604106 119604129 GCCGCCGCCGCCACTGCCGCCGCG - rs758084818 EN1 V209_A216del 0.001 0 0 0 1 0 0 0 0 0 0 0 256436 chr2 119739754 119739754 T C rs147872741 MARCO Synonymous SNV V308V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.126 256437 chr2 120020635 120020635 C T rs11885203 STEAP3 Synonymous SNV S396S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12 256438 chr9 2191273 2191273 A G rs776487920 SMARCA2 Synonymous SNV S192S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.3 256439 chr2 121103956 121103956 A G rs752529969 INHBB Synonymous SNV P64P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 256440 chr2 121107015 121107015 G A rs114178673 INHBB Synonymous SNV V263V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.066 256441 chr2 121746430 121746430 C T rs146811565 GLI2 Synonymous SNV S838S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.522 256442 chr2 121746538 121746538 C T rs140479803 GLI2 Synonymous SNV D874D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.287 256443 chr6 158517239 158517239 A G rs368772579 SYNJ2 Nonsynonymous SNV K1208R 0 0 0 2 0 0 0.005 0 0 0 0 0 1.258 256444 chr10 15145823 15145823 C T rs767888248 RPP38 Synonymous SNV P170P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 256445 chr2 121748153 121748153 T C rs144372453 GLI2 Nonsynonymous SNV S1413P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.05 256446 chr2 127657129 127657129 C T rs114237530 TEX51 Nonsynonymous SNV T84M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.722 256447 chr2 128281281 128281281 C T rs146207953 IWS1 Nonsynonymous SNV D41N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 256448 chr2 128381773 128381773 A G rs116176015 MYO7B Nonsynonymous SNV I1283V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.74 256449 chr2 128408866 128408866 G A rs138050673 GPR17 Nonsynonymous SNV R186Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 256450 chr2 133887676 133887676 T C rs35356262 NCKAP5 Nonsynonymous SNV K72R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 256451 chr2 135743594 135743594 T C rs138526441 MAP3K19 Nonsynonymous SNV N837D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 256452 chr9 35609123 35609123 C T rs139562981 TESK1 Nonsynonymous SNV P262L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 256453 chr2 135745034 135745034 T C rs139319689 MAP3K19 Nonsynonymous SNV I357V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256454 chr2 136567203 136567203 T C rs115690016 LCT Nonsynonymous SNV D905G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.8 256455 chr2 136624155 136624155 G A rs2070068 MCM6 Synonymous SNV D253D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 256456 chr11 134182754 134182754 T C rs372842855 GLB1L3 Synonymous SNV N491N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.043 256457 chr10 32581429 32581429 T C rs147945675 EPC1 Synonymous SNV E270E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.93 256458 chr6 170871046 170871046 - CAGCAGCAGCAGCAGCAGCAG TBP Q75_A76insQQQQQQQ 0 0 0 2 0 0 0.005 0 0 0 0 0 256459 chr11 1606100 1606120 CCACATCCCCCACAGCCGGAA - rs763617002 KRTAP5-1 G122_S128del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 256460 chr10 45430543 45430543 A G rs777146968 TMEM72 Synonymous SNV P145P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 256461 chr11 76701586 76701586 T G ACER3 Nonsynonymous SNV Y99D 0.001 0 0 0 1 0 0 0 0 0 0 0 29 256462 chr11 77727654 77727654 G A rs769394938 KCTD14 Synonymous SNV T251T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.556 256463 chr10 48389955 48389955 G A rs782358403 RBP3 Nonsynonymous SNV P308L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 256464 chr11 1977615 1977615 C T rs776188706 MRPL23 Nonsynonymous SNV R143W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 256465 chr11 84245693 84245693 C T rs755107321 DLG2 Nonsynonymous SNV V42M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 256466 chr10 50944528 50944528 C T rs140281439 OGDHL Nonsynonymous SNV A668T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 256467 chr2 171573716 171573716 C T rs147780061 SP5 Synonymous SNV C333C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 256468 chr7 7398301 7398301 C A rs192487617 COL28A1 Nonsynonymous SNV S1114I 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 256469 chr2 173355958 173355958 G A rs10209072 ITGA6 Nonsynonymous SNV V930M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 16.28 256470 chr10 61829273 61829273 T C rs144123544 ANK3 Nonsynonymous SNV N3789S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.58 256471 chr9 96846903 96846903 G A rs771471621 PTPDC1 Nonsynonymous SNV V31I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256472 chr2 179404012 179404012 G T rs370646917 TTN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.089 256473 chr2 179438858 179438858 C T rs180828370 TTN Nonsynonymous SNV A14936T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 256474 chr2 179454135 179454135 G T rs375173874 TTN Nonsynonymous SNV L11708M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.54 256475 chrX 106890851 106890851 C T rs746885792 PRPS1 Synonymous SNV G36G 0.004 0 0 0 5 0 0 0 2 0 0 0 Benign/Likely benign 18.51 256476 chr2 180056547 180056547 G T rs61754495 SESTD1 Nonsynonymous SNV P8T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 256477 chr2 180835765 180835765 G C rs147251105 CWC22 Synonymous SNV L281L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.433 256478 chr2 182430219 182430219 C A rs10185262 CERKL Nonsynonymous SNV L188F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.391 256479 chr12 10206905 10206905 T G CLEC9A Nonsynonymous SNV F43V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 256480 chr7 27204653 27204653 C T rs147261225 HOXA9 Nonsynonymous SNV G142S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 256481 chr2 182780509 182780509 G T rs13384479 ITPRID2 Synonymous SNV L561L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.991 256482 chr2 182780864 182780864 C T rs13419020 ITPRID2 Nonsynonymous SNV R680W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 256483 chrX 133979278 133979278 G A FAM122C Stop gain W97X 0.003 0 0 0 3 0 0 0 1 0 0 0 33 256484 chr2 186655900 186655900 C T rs114059375 FSIP2 Nonsynonymous SNV T1346M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 256485 chr2 186668221 186668221 A C rs11885851 FSIP2 Nonsynonymous SNV I4730L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 256486 chr2 187373411 187373411 A C ZC3H15 Nonsynonymous SNV D411A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 256487 chr7 40127789 40127789 G A rs200412973 CDK13 Nonsynonymous SNV G1032S 0 0 0 2 0 0 0.005 0 0 0 0 0 26.3 256488 chr2 191300916 191300916 T C rs73050072 MFSD6 Nonsynonymous SNV I54T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.795 256489 chr2 192701408 192701408 T C rs61742216 CAVIN2 Synonymous SNV K173K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.326 256490 chr2 197777618 197777618 G A PGAP1 Nonsynonymous SNV R213C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 256491 chr2 197777721 197777721 A C rs35444896 PGAP1 Synonymous SNV L178L 0.004 0 0.003 2 5 0 0.005 1 0 0 0 0 Benign 0.023 256492 chr2 202359094 202359094 G A C2CD6 Nonsynonymous SNV S657L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 256493 chrX 44942756 44942756 C - KDM6A V1034Yfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 256494 chr10 98182398 98182398 T A rs147806147 TLL2 Nonsynonymous SNV H242L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 256495 chr2 203839087 203839087 C T rs78815956 CARF Synonymous SNV P110P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.93 256496 chr10 99139087 99139087 G A RRP12 Synonymous SNV T487T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.2 256497 chr2 206659542 206659542 C T rs150201258 NRP2 Synonymous SNV T830T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.837 256498 chr2 207559599 207559599 T C rs16838593 DYTN Nonsynonymous SNV Y241C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 256499 chr17 43004441 43004441 G A KIF18B Nonsynonymous SNV P773L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.4 256500 chr2 208425051 208425051 G A rs78701038 CREB1 Synonymous SNV A32A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.56 256501 chr2 208994294 208994294 G A rs115828074 CRYGC Synonymous SNV G41G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.169 256502 chr2 209010575 209010575 G A rs76323117 CRYGB Nonsynonymous SNV R59W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 256503 chr2 209138414 209138414 A G rs36031854 PIKFYVE Synonymous SNV K93K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.02 256504 chr2 209204200 209204200 A G rs35066043 PIKFYVE Synonymous SNV Q1577Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.211 256505 chr11 1017392 1017392 A C rs777154449 MUC6 Synonymous SNV P1803P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 256506 chr3 1367506 1367506 A C rs761163641 CNTN6 Synonymous SNV P214P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.774 256507 chr3 142277610 142277610 A C ATR Nonsynonymous SNV S517A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.419 256508 chr11 10795595 10795595 A G CTR9 Nonsynonymous SNV N898D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 256509 chr11 108043666 108043666 C T NPAT Nonsynonymous SNV C682Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 256510 chr11 1082378 1082378 C T rs72655311 MUC2 Synonymous SNV Y611Y 0 0 0.007 0 0 0 0 2 0 0 0 0 7.529 256511 chr2 220434997 220434997 C A rs756307831 OBSL1 Nonsynonymous SNV A320S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 256512 chr11 1095319 1095319 C T rs565162399 MUC2 Nonsynonymous SNV P2047S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.296 256513 chr17 65026907 65026907 C T rs774236249 CACNG4 Synonymous SNV D257D 0 0 0 2 0 0 0.005 0 0 0 0 0 8.697 256514 chr2 228205038 228205038 C T rs548889465 MFF Nonsynonymous SNV R128W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 256515 chr17 67039854 67039854 G A rs777966131 ABCA9 Synonymous SNV I192I 0 0 0 2 0 0 0.005 0 0 0 0 0 6.506 256516 chr11 114270846 114270846 C A rs376853601 C11orf71 Nonsynonymous SNV G70C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 256517 chr13 72440467 72440467 - CTG rs755850704 DACH1 S163_C164insS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 256518 chr11 123301696 123301696 G A GRAMD1B Nonsynonymous SNV A66T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.999 256519 chr17 73623526 73623526 A G rs770641867 RECQL5 Synonymous SNV H984H 0 0 0 3 0 0 0.008 0 0 0 0 0 1.925 256520 chr17 73661218 73661218 C T rs752172617 RECQL5 Synonymous SNV G55G 0 0 0 3 0 0 0.008 0 0 0 0 0 15.62 256521 chr2 239039864 239039864 G A rs202227187 ESPNL Nonsynonymous SNV E469K 0.002 0 0 0 2 0 0 0 0 0 0 0 31 256522 chr7 103202386 103202386 C T rs199553777 RELN Nonsynonymous SNV R1742Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 256523 chr7 107832192 107832192 G A rs187279989 NRCAM Synonymous SNV S603S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.18 256524 chr11 125825376 125825376 G A rs886115602 VSIG10L2 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 256525 chr2 242814719 242814719 T C rs202185531 RTP5 Nonsynonymous SNV S338P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 256526 chr12 50050966 50050966 T A rs754861315 FMNL3 Nonsynonymous SNV T154S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 256527 chr12 50190776 50190776 G A rs371056574 NCKAP5L Synonymous SNV G289G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.178 256528 chr7 121733190 121733190 G A rs74882337 AASS Nonsynonymous SNV P560S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 26.5 256529 chr3 5021541 5021541 C - rs573422806 BHLHE40-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 256530 chr17 77926539 77926539 C A TBC1D16 Synonymous SNV P286P 0 0 0 2 0 0 0.005 0 0 0 0 0 19.55 256531 chr3 9476070 9476070 G A rs41387348 SETD5 Nonsynonymous SNV R77H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.8 256532 chr3 9726646 9726646 C T rs13315043 MTMR14 Synonymous SNV F375F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.63 256533 chr14 21215808 21215808 A C rs201725458 EDDM3A Synonymous SNV V23V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 256534 chr11 15197398 15197398 G T rs745651900 INSC Nonsynonymous SNV E56D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 256535 chr3 9959687 9959687 C G rs115095463 IL17RC Nonsynonymous SNV L70V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.47 256536 chr7 129945723 129945723 G A CPA4 Stop gain W152X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 256537 chr3 10140445 10140445 A G FANCD2 Synonymous SNV A1372A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 256538 chr3 11712740 11712740 G A rs114770226 VGLL4 Synonymous SNV H25H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.007 256539 chr11 19077272 19077272 C T rs775440884 MRGPRX2 Synonymous SNV L226L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.434 256540 chr3 13383561 13383561 G A rs138467259 NUP210 Synonymous SNV F1009F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.728 256541 chr12 53073999 53073999 C T KRT1 Nonsynonymous SNV R45K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 256542 chr3 13916667 13916667 G A rs35103037 WNT7A Synonymous SNV G25G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.751 256543 chr17 79496152 79496152 C T rs372191222 FSCN2 Nonsynonymous SNV R199C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 15.62 256544 chr3 14223074 14223074 C T rs34724908 LSM3 Synonymous SNV N12N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 13.06 256545 chr3 15298346 15298346 A G rs73144045 SH3BP5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 256546 chr3 18055252 18055253 AT - rs574092221 LOC339862 0.001 0 0 0 1 0 0 0 0 0 0 0 256547 chr3 20043188 20043188 - T rs570854355 PP2D1 Frameshift insertion Q142Tfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 256548 chr3 30880518 30880518 C T rs115154257 GADL1 Nonsynonymous SNV E292K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 256549 chr14 31618273 31618273 G C HECTD1 Nonsynonymous SNV P750R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 256550 chr3 33868104 33868104 C T rs189083325 PDCD6IP Nonsynonymous SNV T250I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 256551 chr3 36779464 36779464 T C rs140888824 DCLK3 Synonymous SNV P229P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 256552 chr3 38051484 38051484 C T rs149467855 PLCD1 Nonsynonymous SNV V421M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 256553 chr3 38592386 38592386 C T rs137854610 SCN5A Nonsynonymous SNV R1808H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 256554 chr3 39148995 39148995 C T rs541137496 GORASP1 Nonsynonymous SNV G13D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 256555 chr3 39226610 39226610 C T rs75731397 XIRP1 Nonsynonymous SNV G126S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 256556 chr3 39435908 39435908 G A rs145760389 SLC25A38 Synonymous SNV V211V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 256557 chr10 61829054 61829054 T G ANK3 Nonsynonymous SNV K3862T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 256558 chr3 40503526 40503526 - CTGCTG RPL14 A159_K160insAA 0.001 0 0 0 1 0 0 0 0 0 0 0 256559 chr3 42265099 42265099 A G rs114355738 TRAK1 Nonsynonymous SNV N816S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 256560 chr12 65563938 65563938 G A LEMD3 Nonsynonymous SNV A188T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 256561 chr3 44347833 44347833 A G rs11921568 TOPAZ1 Nonsynonymous SNV Q1352R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.2 256562 chr3 44449163 44449163 G T rs114213125 TCAIM Nonsynonymous SNV A494S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 256563 chr18 31684090 31684090 A G NOL4 Nonsynonymous SNV M187T 0 0 0 2 0 0 0.005 0 0 0 0 0 20.6 256564 chr3 44955078 44955078 C T rs146688346 TGM4 Nonsynonymous SNV T639M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 256565 chr8 194680 194680 C T rs376545410 ZNF596 Synonymous SNV G95G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.107 256566 chr3 46751076 46751076 - AAG TMIE K78_D79insK 0.001 0 0 0 1 0 0 0 0 0 0 0 256567 chr3 48498706 48498706 C T rs35240314 ATRIP Nonsynonymous SNV P147L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 256568 chr18 55218070 55218070 G A rs146918011 FECH Synonymous SNV A349A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.54 256569 chr3 49455323 49455323 C T rs149457059 AMT Nonsynonymous SNV V277M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 256570 chr8 12612872 12612872 C A rs866560795 LONRF1 Nonsynonymous SNV A20S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.11 256571 chr3 50197098 50197098 G C rs61751940 SEMA3F Nonsynonymous SNV G15R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 256572 chr3 50375474 50375474 G A RASSF1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.618 256573 chr3 51417578 51417578 C T rs183651479 DOCK3 Synonymous SNV D1841D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 256574 chr3 52256315 52256315 G C rs144698131 TLR9 Nonsynonymous SNV L673V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 256575 chr3 52392683 52392683 G A rs759559144 DNAH1 Nonsynonymous SNV R1399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.04 256576 chr3 52539765 52539765 C T rs149734247 STAB1 Nonsynonymous SNV R555C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 256577 chr3 52557945 52557945 C T rs140945548 STAB1 Nonsynonymous SNV A2485V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 256578 chr12 968444 968444 C T rs61736906 WNK1 Synonymous SNV F478F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.85 256579 chr3 52836397 52836397 G A rs79449861 ITIH3 Nonsynonymous SNV M477I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 256580 chr3 52867409 52867409 G A rs139414204 MUSTN1, STIMATE-MUSTN1 Synonymous SNV R60R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.976 256581 chr3 53321643 53321643 G C rs7647927 DCP1A Synonymous SNV V409V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 256582 chr3 54958884 54958884 A G rs35757787 LRTM1 Synonymous SNV P46P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.341 256583 chr8 29923657 29923657 - ATTGCTGCCAAACAAATATCCTAGTATTCCACCAGTTCCCAAGCCTGTCCAGAACCCTGGTCCTGAA SARAF 0 0 0 1 0 0 0.003 0 0 0 0 0 256584 chr3 63981225 63981225 G A rs114135587 ATXN7 Nonsynonymous SNV R431H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 256585 chr3 64589960 64589960 C T rs34954296 ADAMTS9 Synonymous SNV T1146T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.95 256586 chr3 67411173 67411173 T - rs201326682 SUCLG2 G402Efs*6 0.001 0 0.007 0 1 0 0 2 0 0 0 0 256587 chr8 37727993 37727993 C G RAB11FIP1 Nonsynonymous SNV S559T 0 0 0 2 0 0 0.005 0 0 0 0 0 20.1 256588 chr3 70014384 70014384 G A rs36118030 MITF Synonymous SNV T415T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.791 256589 chr3 71247064 71247064 G A rs141808088 FOXP1 Synonymous SNV S112S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.364 256590 chr3 88205454 88205454 A G rs60228186 C3orf38 Nonsynonymous SNV H220R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 256591 chr3 97185266 97185266 T G rs147015884 EPHA6 Nonsynonymous SNV S4A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.42 256592 chr8 56015583 56015583 G A XKR4 Nonsynonymous SNV A179T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.092 256593 chr3 100948418 100948418 G A rs111784356 IMPG2 Nonsynonymous SNV P1147S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.562 256594 chr3 100951773 100951773 G T IMPG2 Nonsynonymous SNV P1029T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 256595 chr3 100963267 100963267 A G rs35648234 IMPG2 Synonymous SNV D636D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.002 256596 chr3 107096618 107096618 G A rs116546605 CCDC54 Nonsynonymous SNV G62R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 256597 chr3 108107849 108107849 G A rs61745216 MYH15 Nonsynonymous SNV L1855F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.1 256598 chr3 108147675 108147675 G A rs144965775 MYH15 Synonymous SNV A1142A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.2 256599 chr11 60059750 60059750 G - MS4A4A A33Lfs*27 0 0 0.003 0 0 0 0 1 0 0 0 0 256600 chr3 109027877 109027877 C T rs9809030 DPPA2 Nonsynonymous SNV R131Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 12.47 256601 chr3 111632231 111632231 A G rs143702329 PHLDB2 Synonymous SNV L467L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.538 256602 chr3 112292765 112292765 C T rs61732187 SLC35A5 Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 256603 chr3 112998792 112998792 A G rs16860782 BOC Synonymous SNV A715A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.155 256604 chr3 113002309 113002309 C G rs150200848 BOC Nonsynonymous SNV P829R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.18 256605 chr13 33679756 33679756 C A STARD13 Nonsynonymous SNV A988S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 256606 chr3 113063449 113063449 C T rs116266837 CFAP44 Nonsynonymous SNV R1059Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.74 256607 chr13 33679757 33679757 A G STARD13 Synonymous SNV I987I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.98 256608 chr13 33701675 33701675 C T rs766080799 STARD13 Nonsynonymous SNV R578Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 256609 chr3 113323604 113323604 A G rs73854500 SIDT1 Nonsynonymous SNV N8D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.82 256610 chr3 113775233 113775233 C T rs140813529 CCDC191 Nonsynonymous SNV E66K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 256611 chr3 118865610 118865610 G A rs56787024 TEX55 Nonsynonymous SNV E192K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 256612 chr12 102147248 102147249 GA - rs34002892 GNPTAB L1168Qfs*5 0.004 0 0 0 5 0 0 0 0 0 0 0 256613 chr11 62370021 62370021 C T rs909677217 EML3 Stop gain W837X 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 256614 chr3 119530546 119530546 T C rs12721611 NR1I2 Synonymous SNV T164T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.168 256615 chr3 121206527 121206527 C A rs35775179 POLQ Nonsynonymous SNV G1751W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.1 256616 chr3 121230799 121230799 G A rs34624267 POLQ Nonsynonymous SNV R516C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.87 256617 chr3 121414325 121414325 T C rs115775800 GOLGB1 Nonsynonymous SNV K1602R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 256618 chr13 47356827 47356827 C T ESD Nonsynonymous SNV R119K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 256619 chr11 64071258 64071258 T - CATSPERZ L149Rfs*22 0.002 0 0.003 0 2 0 0 1 0 0 0 0 256620 chr3 122329499 122329499 C A rs143268642 PARP15 Nonsynonymous SNV S155R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 256621 chr3 122329508 122329508 T A rs114254425 PARP15 Nonsynonymous SNV N158K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 256622 chr3 122329551 122329551 A G rs146696864 PARP15 Nonsynonymous SNV N173D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256623 chr3 122418437 122418437 G A rs370339926 PARP14 Nonsynonymous SNV D346N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 256624 chr3 122437536 122437536 C T rs61732767 PARP14 Nonsynonymous SNV A1513V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.28 256625 chr3 122873827 122873827 A T rs150216334 PDIA5 Nonsynonymous SNV H428L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 256626 chr8 126067897 126067897 T G WASHC5 Nonsynonymous SNV H530P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 256627 chr3 124632448 124632448 C G rs61730150 MUC13 Nonsynonymous SNV D348H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 256628 chr15 43821377 43821377 G C MAP1A Nonsynonymous SNV R2569P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 256629 chr3 125855726 125855726 C T rs116683776 ALDH1L1 Nonsynonymous SNV V308M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 256630 chr3 125856728 125856728 A G rs34720838 ALDH1L1 Synonymous SNV F283F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.141 256631 chr11 6566206 6566206 A G rs1020857869 DNHD1 Nonsynonymous SNV E1346G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 256632 chr14 100795181 100795181 C T SLC25A47 Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 256633 chr11 65835638 65835638 C T rs781551448 SF3B2 Nonsynonymous SNV P817L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 256634 chr11 66083781 66083781 C T rs759120014 CD248 Nonsynonymous SNV G240R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 256635 chr11 66460682 66460682 T C SPTBN2 Nonsynonymous SNV H1610R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 256636 chr14 104643559 104643559 C T rs562726392 KIF26A Synonymous SNV P1478P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 256637 chr11 68549346 68549346 C T rs750166396 CPT1A Synonymous SNV A415A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.15 256638 chr14 105616998 105616998 G A rs114828659 JAG2 Synonymous SNV D477D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.829 256639 chr14 105618527 105618527 G A rs61730146 JAG2 Nonsynonymous SNV T297I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.2 256640 chr3 138456726 138456726 G A rs3729699 PIK3CB Synonymous SNV D208D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.651 256641 chr11 71724733 71724733 C T rs35342866 NUMA1 Synonymous SNV L1272L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.256 256642 chr3 138669289 138669289 C T rs112857156 FOXL2NB Nonsynonymous SNV P135S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 256643 chr3 140397411 140397411 T A rs61746494 TRIM42 Nonsynonymous SNV S114T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.976 256644 chr3 150908634 150908634 A G rs77408778 MED12L Synonymous SNV S628S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.601 256645 chr3 151155383 151155383 G A rs41401648 IGSF10 Synonymous SNV S349S 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 11.56 256646 chr3 151156013 151156013 C T rs78115932 IGSF10 Synonymous SNV A139A 0.001 0.003 0.01 1 1 1 0.003 3 0 0 0 0 Benign 12.83 256647 chr3 153220324 153220324 G A rs375064727 C3orf79 0.001 0 0 0 1 0 0 0 0 0 0 0 1.801 256648 chr3 156877236 156877236 A G rs75624594 CCNL1 Synonymous SNV H112H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.111 256649 chr12 133313556 133313556 C T rs201450043 ANKLE2 Nonsynonymous SNV V506I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.241 256650 chr3 159482487 159482487 C A rs77009616 IQCJ-SCHIP1, SCHIP1 Nonsynonymous SNV R107S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.826 256651 chr3 164781261 164781261 G A rs139642816 SI Synonymous SNV F292F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 256652 chr3 167023660 167023660 C T rs35769851 ZBBX Nonsynonymous SNV S499N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 256653 chr11 133790624 133790624 G A IGSF9B Nonsynonymous SNV P999L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 256654 chr11 86518981 86518981 C T rs753521872 PRSS23 Nonsynonymous SNV T99M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 256655 chr14 23312474 23312474 A G rs17884841 MMP14 Nonsynonymous SNV I233V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.49 256656 chr3 169801800 169801800 C G rs73030619 GPR160 Nonsynonymous SNV Q14E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.285 256657 chr14 23393254 23393254 C G rs749432721 PRMT5 Synonymous SNV S275S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 256658 chr3 170078655 170078655 C T rs146052952 SKIL Nonsynonymous SNV T179I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 256659 chr3 170802101 170802101 G A rs61736291 TNIK Synonymous SNV S912S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.18 256660 chr14 23745723 23745723 G A rs11844797 HOMEZ Synonymous SNV N238N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 256661 chr3 172472364 172472364 G C rs34703432 ECT2 Nonsynonymous SNV S15T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 256662 chr12 1741882 1741882 G A rs138238149 WNT5B Nonsynonymous SNV V47M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 256663 chr3 172536450 172536450 G A rs56142528 ECT2 Nonsynonymous SNV R923H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.699 256664 chr14 23847975 23847975 - CG rs367613599 CMTM5 Frameshift insertion W128Afs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 256665 chr3 172835373 172835373 T C rs16846624 SPATA16 Nonsynonymous SNV N50S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.001 256666 chr14 23859371 23859371 G A rs147871745 MYH6 Synonymous SNV I1209I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.61 256667 chr14 23876397 23876397 C T rs141014719 MYH6 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.33 256668 chr3 178922335 178922335 T C rs202162121 PIK3CA Synonymous SNV C368C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.893 256669 chr3 179069717 179069717 A C rs142787699 MFN1 Nonsynonymous SNV I48L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.74 256670 chr3 179306666 179306666 A G rs6784464 MRPL47 Synonymous SNV L139L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 256671 chr3 179426582 179426582 C T rs11917211 USP13 Synonymous SNV C214C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14 256672 chr3 179472614 179472614 C G rs61750382 USP13 Synonymous SNV P631P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.78 256673 chr3 182810203 182810203 T G rs369138447 MCCC1 Synonymous SNV V89V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.12 256674 chr14 24659843 24659843 C T rs775780012 TM9SF1 Synonymous SNV T390T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 256675 chr3 183515754 183515754 C T rs34839729 YEATS2 Synonymous SNV A1047A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.58 256676 chr11 9608049 9608049 A G WEE1 Synonymous SNV V294V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 256677 chr14 24737596 24737596 G A rs200199139 RABGGTA Nonsynonymous SNV T346M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 256678 chr3 184290765 184290765 C T rs145290731 EPHB3 Synonymous SNV F219F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.42 256679 chr3 184801028 184801028 T C rs147489654 C3orf70 Nonsynonymous SNV N174D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.783 256680 chr3 184910120 184910120 A G rs114925063 EHHADH Nonsynonymous SNV I593T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 256681 chr3 184910136 184910136 T C rs114173562 EHHADH Nonsynonymous SNV R588G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.74 256682 chr3 184910278 184910278 T C rs114439807 EHHADH Synonymous SNV G540G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.085 256683 chr3 185146432 185146432 C A MAP3K13 Nonsynonymous SNV S21R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.584 256684 chr3 185146549 185146549 G C rs762248702 MAP3K13 Synonymous SNV V60V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 256685 chr3 186006629 186006629 T C rs61752080 DGKG Synonymous SNV Q138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.006 256686 chr14 39627595 39627595 T A rs147625412 TRAPPC6B Nonsynonymous SNV D54V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.3 256687 chr12 42499664 42499664 C T rs755791791 GXYLT1 Nonsynonymous SNV V243I 0.002 0 0 0 2 0 0 0 0 0 0 0 32 256688 chr9 79325299 79325299 T C rs138087485 PRUNE2 Nonsynonymous SNV T631A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.025 256689 chr3 197670706 197670706 G C rs34070639 IQCG Synonymous SNV L75L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.617 256690 chr3 197687102 197687102 A G rs112408295 LMLN Nonsynonymous SNV T4A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 256691 chr19 17678268 17678268 C T rs375054884 COLGALT1 Synonymous SNV I181I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.95 256692 chr4 951667 951667 G A rs112745939 TMEM175 Nonsynonymous SNV V218M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 256693 chr4 1087514 1087514 T C rs141944410 RNF212 Nonsynonymous SNV I179V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.565 256694 chr4 1087726 1087726 G A rs368346002 RNF212 Nonsynonymous SNV S108L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.554 256695 chr4 1161293 1161293 T C rs11538061 SPON2 Synonymous SNV E321E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.296 256696 chr4 1164239 1164239 G A rs145897903 SPON2 Synonymous SNV P254P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.256 256697 chr4 1165641 1165641 C T rs150653050 SPON2 Synonymous SNV L73L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 256698 chr9 99284816 99284816 G A rs779010936 CDC14B Stop gain Q402X 0 0 0 2 0 0 0.005 0 0 0 0 0 41 256699 chr4 1377583 1377583 G C rs140839981 UVSSA Nonsynonymous SNV V631L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 256700 chr4 1857638 1857638 G A rs531801469 LETM1 Nonsynonymous SNV P14S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.56 256701 chr4 2087404 2087404 A C rs34554757 POLN Nonsynonymous SNV F711L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.2 256702 chr4 4861844 4861844 C T rs201156596 MSX1 Nonsynonymous SNV P73L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 256703 chr4 5620290 5620290 C T rs114764023 EVC2 Nonsynonymous SNV R794Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 27.4 256704 chr4 5642400 5642400 T C rs77131452 EVC2 Synonymous SNV L357L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 1.247 256705 chr9 111753012 111753012 T C rs780608420 CTNNAL1 Synonymous SNV R211R 0 0 0 2 0 0 0.005 0 0 0 0 0 5.289 256706 chr4 6302452 6302452 A G rs115561278 WFS1 Synonymous SNV A310A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.699 256707 chr4 6302680 6302680 C T rs71524354 WFS1 Synonymous SNV P386P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.55 256708 chr4 6925344 6925344 G A rs115334884 TBC1D14 Synonymous SNV P76P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.881 256709 chr4 7774685 7774685 C T rs115587641 AFAP1 Synonymous SNV E621E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.12 256710 chr12 13153527 13153527 G A HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.048 256711 chr4 7941232 7941232 G C rs140694812 LOC389199 Nonsynonymous SNV A114P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.06 256712 chr4 8010824 8010824 T G rs34237203 ABLIM2 Synonymous SNV R178R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.112 256713 chr4 8221156 8221156 G A rs73079753 SH3TC1 Synonymous SNV A261A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 256714 chr4 8229270 8229270 C T rs113895641 SH3TC1 Nonsynonymous SNV R541W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 256715 chr4 8238008 8238008 C T rs61740112 SH3TC1 Nonsynonymous SNV R1061W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 256716 chr4 8238048 8238048 C T rs112207455 SH3TC1 Nonsynonymous SNV A1074V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.08 256717 chr4 8589075 8589075 G A rs144835106 GPR78 Synonymous SNV L359L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.619 256718 chr4 9922075 9922075 G A rs149775666 SLC2A9 Synonymous SNV Y312Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.25 256719 chr4 10089489 10089489 C A WDR1 Nonsynonymous SNV V125L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 256720 chr4 15554917 15554917 C T rs113835820 CC2D2A Synonymous SNV I825I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.59 256721 chr12 18241857 18241857 A G rs376470962 RERGL Nonsynonymous SNV I29T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 256722 chr4 17643812 17643812 C T rs138239176 FAM184B Nonsynonymous SNV A796T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 256723 chr4 20619194 20619194 T C rs61746416 SLIT2 Synonymous SNV H1419H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.086 256724 chr11 5221778 5221778 A G rs150609673 OR51V1 Synonymous SNV N51N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 256725 chr4 20620616 20620616 C T rs115023064 SLIT2 Nonsynonymous SNV T1521M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.4 256726 chr9 123586913 123586913 T G rs35260594 PSMD5 Nonsynonymous SNV I246L 0 0 0 3 0 0 0.008 0 0 0 0 0 19.97 256727 chr4 25780712 25780712 A G rs73103935 SEL1L3 Synonymous SNV P822P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.02 256728 chr4 25834731 25834731 G A rs73117333 SEL1L3 Synonymous SNV G293G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.45 256729 chr4 37446261 37446261 C T rs371806771 NWD2 Nonsynonymous SNV S884L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 256730 chr4 37592249 37592249 A T rs145307767 C4orf19 Nonsynonymous SNV H191L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256731 chr16 31405603 31405603 G A rs772214015 ITGAD Synonymous SNV T26T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 256732 chr12 29709922 29709922 C T rs141015646 TMTC1 Nonsynonymous SNV R515H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 256733 chr4 47408850 47408850 C T rs115114447 GABRB1 Synonymous SNV Y329Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.992 256734 chr4 47462210 47462210 A C rs114141818 COMMD8 Nonsynonymous SNV I58S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.917 256735 chr4 55146556 55146556 C T rs61735626 PDGFRA Nonsynonymous SNV P744S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.7 256736 chr4 57180710 57180710 G C rs148920534 CRACD Nonsynonymous SNV E348Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.762 256737 chr4 57318074 57318074 G C rs201075940 PAICS Nonsynonymous SNV V270L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 256738 chr4 68699017 68699017 C T rs114055011 TMPRSS11D Synonymous SNV P199P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.877 256739 chr4 69978370 69978370 A G rs72551393 UGT2B7 Synonymous SNV A502A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.284 256740 chr4 70505269 70505269 C T rs114994980 UGT2A2 Synonymous SNV G30G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.576 256741 chr4 71396928 71396928 G T rs61755875 AMTN Nonsynonymous SNV G176V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.172 256742 chr4 71570953 71570953 C T rs189898701 RUFY3 Synonymous SNV P100P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 256743 chr4 72433523 72433523 A - rs796456055 SLC4A4 V1068Lfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 256744 chr4 72631340 72631340 C T rs36039552 GC Synonymous SNV K94K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.47 256745 chr4 73957420 73957420 T C rs146121860 ANKRD17 Synonymous SNV S1724S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.735 256746 chr15 40574214 40574214 C A rs572210203 ANKRD63 Nonsynonymous SNV D192Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 256747 chr12 91348466 91348466 G A rs376363819 CCER1 Synonymous SNV G18G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.972 256748 chr9 135919224 135919224 C T GTF3C5 Synonymous SNV H161H 0 0 0 2 0 0 0.005 0 0 0 0 0 14.02 256749 chr4 79420942 79420942 G A rs139589570 FRAS1 Synonymous SNV A3061A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.716 256750 chr9 136269080 136269080 C T rs782270973 STKLD1 Nonsynonymous SNV A547V 0 0 0 2 0 0 0.005 0 0 0 0 0 5.025 256751 chr4 81123753 81123753 C A rs144810863 PRDM8 Synonymous SNV G379G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.45 256752 chr4 83891578 83891578 T G rs368624674 LIN54 Nonsynonymous SNV I64L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 256753 chr4 84328632 84328632 C T rs17006794 HELQ Nonsynonymous SNV V1027M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 256754 chr4 84348765 84348765 T A rs113520876 HELQ Nonsynonymous SNV Y809F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 256755 chr4 84358158 84358158 C T rs75013052 HELQ Nonsynonymous SNV R567H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 256756 chr4 87696414 87696414 C A rs370026732 PTPN13 Synonymous SNV R1676R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 256757 chr4 87749312 87749312 C T rs57559561 SLC10A6 Nonsynonymous SNV V199I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 256758 chr4 87752976 87752976 C G rs72874286 SLC10A6 Nonsynonymous SNV R185T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 256759 chr4 88415061 88415061 C G rs142254899 SPARCL1 Nonsynonymous SNV E172D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 256760 chr4 88533867 88533867 G A rs374609929 DSPP Nonsynonymous SNV A177T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.392 256761 chr4 88534241 88534241 T G rs199872819 DSPP Nonsynonymous SNV S301R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 256762 chr4 88903838 88903838 A G rs34076181 SPP1 Synonymous SNV L204L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.658 256763 chr4 89345049 89345049 T C rs191474052 HERC6 Nonsynonymous SNV F584S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 256764 chr4 96123982 96123982 G A rs61736724 UNC5C Nonsynonymous SNV A679V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 256765 chr9 139802586 139802586 G A rs377582627 TRAF2 Nonsynonymous SNV R144H 0 0 0 2 0 0 0.005 0 0 0 0 0 23 256766 chr9 139925926 139925926 C T rs150277663 FUT7 Nonsynonymous SNV D89N 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 256767 chr15 45444144 45444144 G C rs145954966 DUOX1 Nonsynonymous SNV Q1029H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 256768 chr4 106156983 106156983 G A rs35695427 TET2 Synonymous SNV E628E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 256769 chr4 108868537 108868537 G A rs61740284 CYP2U1 Nonsynonymous SNV V378I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.3 256770 chr15 52060498 52060498 A G rs149315070 TMOD2 Nonsynonymous SNV T56A 0.001 0 0 0 1 0 0 0 0 0 0 0 27 256771 chr4 115997485 115997485 A C rs34134859 NDST4 Synonymous SNV T236T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 256772 chr15 56126450 56126450 T C rs140499972 NEDD4 Nonsynonymous SNV K1113R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 25 256773 chr15 56148337 56148337 G A rs140868475 NEDD4 Nonsynonymous SNV L687F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 256774 chr4 123179901 123179901 G A rs749590262 KIAA1109 Nonsynonymous SNV R2222Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 256775 chr4 126372323 126372323 A G rs144585931 FAT4 Synonymous SNV A3386A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.892 256776 chr4 126412634 126412634 C G rs35340865 FAT4 Nonsynonymous SNV A4887G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.71 256777 chr4 128703666 128703666 G A rs76330431 HSPA4L Synonymous SNV P18P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.485 256778 chr4 147561148 147561148 G A rs74417037 POU4F2 Nonsynonymous SNV A140T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 256779 chr4 151199145 151199145 C T rs116828023 LRBA Synonymous SNV L2775L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.35 256780 chr4 152065170 152065170 C T rs115339915 SH3D19 Synonymous SNV T389T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 256781 chr4 152622628 152622628 G A rs112654171 GATB Synonymous SNV D350D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.537 256782 chr4 153896161 153896161 G A rs760641446 FHDC1 Nonsynonymous SNV R573Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 256783 chr4 153896315 153896315 C T rs80143169 FHDC1 Synonymous SNV A624A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.08 256784 chr4 153896438 153896438 A T rs79729012 FHDC1 Synonymous SNV P665P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.713 256785 chr4 153897690 153897690 A G rs61752497 FHDC1 Nonsynonymous SNV S1083G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.07 256786 chr10 24833329 24833329 C T rs764426895 KIAA1217 Synonymous SNV A1710A 0 0 0 2 0 0 0.005 0 0 0 0 0 4.024 256787 chr4 155461994 155461994 A G rs34672135 PLRG1 Synonymous SNV Y251Y 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.123 256788 chr4 155531333 155531333 A G rs2066870 FGG Nonsynonymous SNV Y140H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.074 256789 chr4 155670222 155670222 G A rs146717374 LRAT Synonymous SNV T209T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.72 256790 chr4 155720532 155720532 C T rs72959256 RBM46 Synonymous SNV N406N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.811 256791 chr4 156618189 156618189 A C rs61736997 GUCY1A1 Nonsynonymous SNV E57A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.675 256792 chr4 159894353 159894353 G A rs200466324 C4orf45 Nonsynonymous SNV P59S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 256793 chr4 164449966 164449966 T C rs140011214 MARCHF1 Synonymous SNV V251V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.366 256794 chr4 167921559 167921559 T C rs35168179 SPOCK3 Synonymous SNV V8V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.426 256795 chr19 54711293 54711293 G A rs191824521 RPS9 Synonymous SNV P104P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.78 256796 chr15 79750619 79750619 G C rs150720259 MINAR1 Nonsynonymous SNV R710S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 256797 chr15 86122240 86122240 A G AKAP13 Nonsynonymous SNV D314G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 256798 chr19 56320312 56320312 T C rs775226313 NLRP11 Nonsynonymous SNV E456G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 256799 chr19 58234706 58234706 G A ZNF671 Synonymous SNV G47G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.596 256800 chr10 77159851 77159851 - CCGCCA rs745636128 ZNF503 G204_V205insGG 0 0 0 1 0 0 0.003 0 0 0 0 0 256801 chr14 23993146 23993146 G - ZFHX2 P2002Lfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 256802 chr14 25443898 25443898 C T STXBP6 Nonsynonymous SNV E43K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 256803 chr20 2777845 2777845 T C rs139923149 CPXM1 Synonymous SNV P275P 0 0 0 5 0 0 0.013 0 0 0 0 0 2.224 256804 chr20 3212159 3212159 C T rs78860240 SLC4A11 Synonymous SNV T271T 0 0.003 0 5 0 1 0.013 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.94 256805 chr10 99150217 99150217 T C rs145721475 RRP12 Nonsynonymous SNV H178R 0 0 0 2 0 0 0.005 0 0 0 0 0 17.74 256806 chr20 5904335 5904335 G A rs763648508 CHGB Synonymous SNV R515R 0.003 0 0 2 3 0 0.005 0 0 0 0 0 7.421 256807 chr20 5958616 5958616 C T rs935058004 MCM8 Nonsynonymous SNV S450F 0.003 0 0 2 3 0 0.005 0 0 0 0 0 28.1 256808 chr16 2143990 2143990 C T rs62624465 PKD1 Nonsynonymous SNV R3547H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 256809 chr10 105798873 105798873 G A rs779577114 COL17A1 Nonsynonymous SNV P968L 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 256810 chr14 93125602 93125602 C T rs746091590 RIN3 Nonsynonymous SNV S633L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 256811 chr11 394450 394450 G A PKP3 Nonsynonymous SNV R53H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 256812 chr14 95089981 95089981 G C rs754273666 SERPINA3 Nonsynonymous SNV E368Q 0.003 0 0 0 4 0 0 0 0 0 0 0 2.739 256813 chr16 723046 723046 C G RHOT2 Nonsynonymous SNV P498R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 256814 chr16 75682397 75682397 C A rs527772778 TERF2IP Nonsynonymous SNV S206Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 256815 chr16 767384 767384 C A METRN Nonsynonymous SNV H293Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 256816 chr16 780929 780929 C T CIAO3 Nonsynonymous SNV G369D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 256817 chr15 41483685 41483685 G C EXD1 Synonymous SNV A215A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.143 256818 chr16 81965103 81965103 G A rs772898214 PLCG2 Synonymous SNV V861V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 256819 chr11 1080365 1080365 C T rs61732152 MUC2 Nonsynonymous SNV P362L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.1 256820 chr11 2291511 2291511 C T rs753296241 ASCL2 Nonsynonymous SNV V18I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.289 256821 chr15 57743702 57743702 G A CGNL1 Nonsynonymous SNV C603Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.677 256822 chr17 11501854 11501854 G C rs186019513 DNAH9 Nonsynonymous SNV E13D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.702 256823 chr15 71124564 71124564 T G rs766045440 LARP6 Synonymous SNV R251R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.08 256824 chr17 1731226 1731226 C T rs78573746 SMYD4 Synonymous SNV T21T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.6 256825 chr17 18052892 18052892 G C MYO15A Nonsynonymous SNV A2404P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 256826 chr17 80579581 80579581 C T rs532513444 WDR45B Synonymous SNV T174T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.68 256827 chr18 29848647 29848647 C T rs765911017 GAREM1 Synonymous SNV V606V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.342 256828 chr22 39627746 39627746 G A rs368705930 PDGFB Nonsynonymous SNV R113C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 256829 chr11 43465061 43465061 G T rs58244825 TTC17 Nonsynonymous SNV G813V 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 256830 chr17 3975970 3975970 G A rs139226355 ZZEF1 Nonsynonymous SNV H1256Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 256831 chr11 46791563 46791563 G A rs778342886 CKAP5 Nonsynonymous SNV T1091I 0 0 0 2 0 0 0.005 0 0 0 0 0 10.33 256832 chr11 47397227 47397227 G A rs540889602 SPI1 Synonymous SNV H34H 0 0 0 2 0 0 0.005 0 0 0 0 0 1.198 256833 chr11 47498967 47498967 T G CELF1 Synonymous SNV A258A 0 0 0 2 0 0 0.005 0 0 0 0 0 9.98 256834 chr11 48146677 48146677 C T rs757412498 PTPRJ Synonymous SNV T344T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.68 256835 chr17 4447830 4447830 - GCT rs771197815 MYBBP1A S865_K866insS 0.001 0 0 0 1 0 0 0 0 0 0 0 256836 chr18 7888318 7888318 A T PTPRM Synonymous SNV T137T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 256837 chr17 48626242 48626242 C T rs117351904 SPATA20 Synonymous SNV L129L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 12.02 256838 chr17 643758 643758 A - rs745810106 TLCD3A T74Pfs*108 0.001 0 0 0 1 0 0 0 0 0 0 0 256839 chr17 65190135 65190135 G A HELZ Nonsynonymous SNV R169C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 256840 chr17 6532058 6532058 G C rs185682091 KIAA0753 Nonsynonymous SNV Q33E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 256841 chr11 59382930 59382930 G A OSBP Nonsynonymous SNV P70S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.373 256842 chr17 74721824 74721824 C T rs374194292 JMJD6 Synonymous SNV A81A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 256843 chr11 64678730 64678730 G C rs150434804 ATG2A Nonsynonymous SNV P416A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.048 256844 chr11 65618548 65618548 A - SNX32 H209Lfs*41 0 0 0 2 0 0 0.005 0 0 0 0 0 256845 chr17 78064064 78064064 - GGCACGTGCACGAACAACACGGGACGCGCGCA CCDC40 Frameshift insertion R1014Tfs*39 0.002 0 0 0 2 0 0 0 1 0 0 0 256846 chr11 67201890 67201890 C T rs375350949 RPS6KB2 Nonsynonymous SNV R364W 0 0 0 2 0 0 0.005 0 0 0 0 0 27.5 256847 chr17 80445859 80445859 G A NARF Synonymous SNV Q351Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 256848 chr1 20097817 20097817 G A rs142352343 TMCO4 Nonsynonymous SNV P113L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 256849 chr18 5406874 5406874 C T rs140941017 EPB41L3 Nonsynonymous SNV V570I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 256850 chr11 117282575 117282575 C T rs147398904 CEP164 Stop gain Q1405X 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 40 256851 chr1 84982061 84982061 C A rs375737896 SPATA1 Synonymous SNV R7R 0 0 0 2 0 0 0.005 0 0 0 0 0 19.9 256852 chr1 111857959 111857959 C T rs779934714 CHIA Nonsynonymous SNV R20C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 256853 chr12 50616146 50616146 C A rs772543227 LIMA1 Nonsynonymous SNV E96D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.99 256854 chr12 53460218 53460218 G T rs759739597 SPRYD3 Synonymous SNV A358A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.587 256855 chr12 56151335 56151335 T C rs201352071 SARNP Synonymous SNV A198A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.55 256856 chr1 107867489 107867489 G A rs780180788 NTNG1 Nonsynonymous SNV E278K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 256857 chr1 185143567 185143567 T C rs141212294 SWT1 Synonymous SNV P96P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.508 256858 chr12 99097180 99097180 G C APAF1 Nonsynonymous SNV G822A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.072 256859 chr12 107090132 107090132 G A rs148130448 RFX4 Synonymous SNV T153T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.57 256860 chr1 153653695 153653695 G A rs559384888 NPR1 Nonsynonymous SNV E321K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 256861 chr13 23928976 23928976 T C rs140648928 SACS Nonsynonymous SNV N445S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 256862 chr1 228469719 228469719 C T rs769365199 OBSCN Synonymous SNV H2761H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.949 256863 chr13 28895621 28895621 G A rs55931889 FLT1 Synonymous SNV P1051P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 256864 chr1 159799885 159799885 C T SLAMF8 Synonymous SNV L90L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.91 256865 chr13 113333783 113333783 C G rs150373081 ATP11AUN 0 0 0 1 0 0 0.003 0 0 0 0 0 4.396 256866 chr13 113851479 113851479 C T rs150377970 PCID2 Synonymous SNV S93S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.33 256867 chr1 186276077 186276100 CCAAGGAGCCTGCACCCACCACCA - PRG4 E285_K292del 0 0.003 0 0 0 1 0 0 0 0 0 0 256868 chr14 24735685 24735685 G A rs200213681 RABGGTA Synonymous SNV D502D 0 0 0 2 0 0 0.005 0 0 0 0 0 5.355 256869 chr2 39964019 39964019 A G THUMPD2 Synonymous SNV T222T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.305 256870 chr14 52781834 52781834 C T rs751726672 PTGER2 Nonsynonymous SNV R190W 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 256871 chr14 74062284 74062284 G A rs138778049 ACOT4 Nonsynonymous SNV A398T 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.2 256872 chr14 94430710 94430710 C T rs866197152 ASB2 Nonsynonymous SNV R59H 0 0 0 2 0 0 0.005 0 0 0 0 0 18.85 256873 chr14 103396374 103396374 C A AMN Synonymous SNV G319G 0 0 0 2 0 0 0.005 0 0 0 0 0 16.64 256874 chr15 33926907 33926907 A G rs762989640 RYR3 Nonsynonymous SNV N1050D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 256875 chr2 228217240 228217240 C T rs199807950 MFF Nonsynonymous SNV R151C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 256876 chr2 233986969 233986969 T G rs199879367 INPP5D 0 0 0 1 0 0 0.003 0 0 0 0 0 25 256877 chr2 234368459 234368459 C T rs114591819 DGKD Synonymous SNV D873D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 17.12 256878 chr15 89876595 89876595 A G rs562847013 POLG Nonsynonymous SNV Y131H 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.913 256879 chr1 92263005 92263005 C G rs150762460 TGFBR3 Nonsynonymous SNV E29Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 256880 chr16 5046450 5046450 C G SEC14L5 Nonsynonymous SNV H257D 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 256881 chr3 50338429 50338429 G A HYAL1 Nonsynonymous SNV T327I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 256882 chr3 53267173 53267173 C T rs782392600 TKT Synonymous SNV T249T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.236 256883 chr16 57693525 57693525 G A rs770608620 ADGRG1 Nonsynonymous SNV R501Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 256884 chr17 4455810 4455810 C G rs200368677 MYBBP1A Nonsynonymous SNV V225L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 256885 chr17 4802670 4802670 C T rs757968612 CHRNE Nonsynonymous SNV E348K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.2 256886 chr17 8379223 8379223 G A rs148348930 MYH10 Nonsynonymous SNV R1944C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 256887 chr17 10304362 10304362 C T rs372740784 MYH8 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.5 256888 chr17 16852099 16852099 G A rs761449168 TNFRSF13B Nonsynonymous SNV S133L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 1.734 256889 chr17 27210235 27210235 C T rs370507325 FLOT2 Synonymous SNV T79T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 14.31 256890 chr17 31323838 31323838 G - SPACA3 0.002 0 0 3 2 0 0.008 0 0 0 0 0 256891 chr4 17839339 17839339 A G rs1045005483 NCAPG Nonsynonymous SNV D794G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 256892 chr17 36487002 36487002 G T GPR179 Stop gain S817X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 256893 chr17 38179617 38179617 T C MED24 Nonsynonymous SNV M660V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.5 256894 chr17 38498924 38498924 C A RARA-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 14.91 256895 chr17 38510583 38510583 C T rs77633370 RARA Synonymous SNV P182P 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 20.1 256896 chr17 38609370 38609370 G A rs146275154 IGFBP4 Synonymous SNV A161A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.81 256897 chr17 39659227 39659227 T G rs777605109 KRT13 Synonymous SNV R287R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.534 256898 chr17 39881184 39881184 C T rs781944086 HAP1 Synonymous SNV V526V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.274 256899 chr17 40317522 40317522 C T rs753817153 KCNH4 Nonsynonymous SNV R677Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.28 256900 chr17 48761062 48761062 C T rs41280128 ABCC3 Nonsynonymous SNV P1300L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 256901 chr17 56700279 56700279 G T rs776974997 TEX14 Synonymous SNV R116R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.59 256902 chr17 62028916 62028916 G A rs376432808 SCN4A Synonymous SNV L907L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 9.199 256903 chr4 129028481 129028481 C T rs749308509 LARP1B Nonsynonymous SNV S334F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.195 256904 chr17 74449188 74449188 G A UBE2O Synonymous SNV P12P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.46 256905 chr18 23619401 23619401 C G SS18 Nonsynonymous SNV Q209H 0 0 0 2 0 0 0.005 0 0 0 0 0 26.2 256906 chr18 55283172 55283172 G A rs758952709 NARS1 Synonymous SNV T43T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.55 256907 chr19 4175694 4175694 G A rs202071035 SIRT6 Synonymous SNV L64L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.953 256908 chr19 19164971 19164971 T C rs768008307 ARMC6 Synonymous SNV D263D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.085 256909 chr19 49259506 49259506 G A rs574758901 FGF21 Nonsynonymous SNV E5K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.008 256910 chr19 54313326 54313326 G C rs781712648 NLRP12 Nonsynonymous SNV D529E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 0.001 256911 chr19 54754778 54754778 G A rs150660840 LILRB5 Nonsynonymous SNV P450S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.81 256912 chr19 55888985 55888985 G A rs149280110 TMEM190 Nonsynonymous SNV R40Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 256913 chr19 57335842 57335842 C T rs371052516 PEG3 Nonsynonymous SNV R61Q 0 0 0 2 0 0 0.005 0 0 0 0 0 17.53 256914 chr20 3278801 3278801 C A rs560571698 C20orf194 Nonsynonymous SNV A602S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.64 256915 chr20 61040504 61040504 G A GATA5 Synonymous SNV A310A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.172 256916 chr20 61880212 61880212 G A rs772619197 NKAIN4 Synonymous SNV N14N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.617 256917 chr20 61906957 61906957 G T rs113793400 ARFGAP1 Nonsynonymous SNV V9F 0 0 0 1 0 0 0.003 0 0 0 0 0 29 256918 chr21 45752978 45752978 G A rs549536131 CFAP410 Nonsynonymous SNV P104L 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 256919 chr21 45825855 45825855 C T rs77759997 TRPM2 Nonsynonymous SNV R909W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 256920 chr22 24034395 24034395 C A rs773973116 RGL4 Nonsynonymous SNV R60S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 256921 chr22 26164762 26164762 G A rs376763418 MYO18B Synonymous SNV V293V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.745 256922 chr22 29534701 29534701 G A rs201316832 KREMEN1 Nonsynonymous SNV A352T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.9 256923 chr22 42139175 42139175 A C rs182999430 MEI1 Nonsynonymous SNV T475P 0 0 0 2 0 0 0.005 0 0 0 0 0 7.315 256924 chr22 42418258 42418258 C T rs759808450 WBP2NL Stop gain R138X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 256925 chr22 45931082 45931082 A G FBLN1 Nonsynonymous SNV I263V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.58 256926 chr22 50678788 50678788 C T rs574864438 TUBGCP6 Synonymous SNV P250P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.67 256927 chrX 5811115 5811115 G A rs777508939 NLGN4X Synonymous SNV L732L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.039 256928 chrX 24721462 24721462 A T POLA1 Nonsynonymous SNV D88V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 256929 chrX 53111697 53111697 A C TSPYL2 Nonsynonymous SNV E6A 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 256930 chrX 66765168 66765176 GCAGCAGCA - AR Q78_Q80del 0 0 0 1 0 0 0.003 0 0 0 0 0 256931 chrX 70621455 70621455 G A rs748405987 TAF1 Synonymous SNV A1288A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.59 256932 chrX 106117065 106117065 C T rs199726374 TBC1D8B Nonsynonymous SNV A1078V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 256933 chrX 118223037 118223037 A G KIAA1210 Nonsynonymous SNV M719T 0 0 0 3 0 0 0.008 0 0 0 0 1 0.002 256934 chrX 123518258 123518258 T C rs757776288 TENM1 Nonsynonymous SNV T2168A 0 0 0 3 0 0 0.008 0 0 0 0 1 5.192 256935 chr1 23688779 23688779 C A ZNF436 Nonsynonymous SNV A348S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 256936 chr1 24122735 24122735 T C GALE Synonymous SNV A298A 0 0 0 2 0 0 0.005 0 0 0 0 0 7.527 256937 chr1 34034977 34034977 G A rs143459383 CSMD2 Nonsynonymous SNV L2710F 0 0.003 0 2 0 1 0.005 0 0 0 0 0 24.2 256938 chr1 40126813 40126813 C G NT5C1A Nonsynonymous SNV A227P 0 0 0 2 0 0 0.005 0 0 0 0 0 32 256939 chr1 43700023 43700023 C T rs549750825 CFAP57 Nonsynonymous SNV P1100L 0 0 0 2 0 0 0.005 0 0 0 0 0 27.4 256940 chr1 43826172 43826172 A G rs750654974 CDC20 Synonymous SNV L252L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.426 256941 chr1 46120391 46120391 G A rs759018617 GPBP1L1 Stop gain R101X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 256942 chr1 47028450 47028450 G A rs55739233 MKNK1 Synonymous SNV Y225Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.574 256943 chr1 54506485 54506485 C T rs757634096 TMEM59 Synonymous SNV A151A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.77 256944 chr1 87036869 87036869 C T rs751296931 CLCA4 Nonsynonymous SNV A431V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.63 256945 chr1 109816194 109816194 A G rs766950570 CELSR2 Synonymous SNV P2882P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 14.2 256946 chr1 113232658 113232658 G A rs373179904 MOV10 Synonymous SNV R258R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.54 256947 chr1 114948143 114948143 T C TRIM33 Nonsynonymous SNV N886S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 256948 chr1 120458259 120458259 G A rs150657714 NOTCH2 Synonymous SNV D2362D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.838 256949 chr10 32306141 32306141 T C KIF5B Synonymous SNV Q897Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.967 256950 chr10 32573973 32573973 A G rs770609657 EPC1 Nonsynonymous SNV L466S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 256951 chr10 75407151 75407151 C T SYNPO2L Synonymous SNV R529R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.516 256952 chr10 79764494 79764494 T G POLR3A Nonsynonymous SNV T743P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 256953 chr1 147092284 147092284 C G rs782819434 BCL9 Nonsynonymous SNV Q775E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.93 256954 chr1 150526507 150526507 A G ADAMTSL4 Nonsynonymous SNV H347R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.048 256955 chr1 151955718 151955718 A C rs1009432998 S100A10 Nonsynonymous SNV F72C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 256956 chr11 1256408 1256408 C T rs758515636 MUC5B Synonymous SNV G908G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 256957 chr1 163325191 163325191 G T rs769329199 NUF2 Nonsynonymous SNV D443Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.9 256958 chr1 167339408 167339408 C T POU2F1 Nonsynonymous SNV A69V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 256959 chr1 169437469 169437469 G A rs758431347 SLC19A2 Synonymous SNV L214L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 11.99 256960 chr11 1605957 1605957 C T rs151275365 KRTAP5-1 Nonsynonymous SNV G175R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 15.93 256961 chr11 280105 280105 A T rs748036585 NLRP6 Nonsynonymous SNV E124V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.726 256962 chr11 44073249 44073249 T C rs1002048762 ACCSL Nonsynonymous SNV M251T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 3.923 256963 chr1 228402592 228402592 C T rs777469771 OBSCN Nonsynonymous SNV R541C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 256964 chr1 231665038 231665038 C T rs138421350 TSNAX Synonymous SNV F18F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 14.66 256965 chr1 231902975 231902975 C T rs28930675 DISC1 Nonsynonymous SNV T103M 0.003 0 0 1 4 0 0.003 0 0 0 0 0 26.5 256966 chr1 242020673 242020673 C T rs756050889 EXO1 Synonymous SNV C144C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 256967 chr1 244583598 244583598 C T rs763138349 ADSS2 Nonsynonymous SNV G222S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 256968 chr11 62123922 62123922 C T rs919147792 ASRGL1 Nonsynonymous SNV R106W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 35 256969 chr2 27558808 27558808 C T GTF3C2 Stop gain W481X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 256970 chr11 709414 709414 C A rs202247217 EPS8L2 Nonsynonymous SNV Q3K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.45 256971 chr2 73680178 73680178 C T rs549259627 ALMS1 Nonsynonymous SNV A2174V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.9 256972 chr2 74702501 74702501 A G CCDC142 Synonymous SNV A549A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.042 256973 chr2 122144802 122144802 G C CLASP1 Synonymous SNV G1062G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.12 256974 chr2 124999934 124999934 C T rs200562881 CNTNAP5 Synonymous SNV R115R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.01 256975 chr2 128747186 128747186 G A rs757179333 SAP130 Nonsynonymous SNV P604S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 256976 chr12 21032475 21032475 C T rs146940490 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV T386I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 12.13 256977 chr12 48183311 48183311 T C rs200966208 HDAC7 Synonymous SNV T677T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.485 256978 chr12 4848337 4848337 G A rs143866477 GALNT8 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.349 256979 chr12 48921860 48921860 C A OR8S1 Nonsynonymous SNV R352S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.127 256980 chr12 57589107 57589107 G C LRP1 Nonsynonymous SNV V2788L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 256981 chr13 103419820 103419820 T C rs200314758 TEX30 Nonsynonymous SNV M62V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 256982 chr13 19752430 19752430 C T rs140107190 TUBA3C Nonsynonymous SNV G111S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 256983 chr3 47088073 47088073 T C rs777640124 SETD2 Synonymous SNV Q2290Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.733 256984 chr13 114541051 114541051 T C rs750301504 GAS6 Nonsynonymous SNV T194A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 256985 chr3 47454608 47454608 G A rs754863024 PTPN23 Nonsynonymous SNV R1489Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 256986 chr13 28143167 28143167 G A rs767031796 LNX2 Synonymous SNV D218D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.015 256987 chr13 78327350 78327350 G A rs138815981 SLAIN1 Nonsynonymous SNV R25K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 256988 chr14 23778026 23778026 C T rs770461528 BCL2L2 Nonsynonymous SNV A145V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 256989 chr14 24588806 24588806 A C DCAF11 Nonsynonymous SNV Q296P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 256990 chr14 35343653 35343653 G A rs368773164 LOC112268124 0.001 0 0 0 1 0 0 0 0 0 0 0 8.984 256991 chr14 37739659 37739659 A T rs35870036 MIPOL1 Nonsynonymous SNV Q141L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.537 256992 chr14 45433309 45433309 G T rs139118130 TOGARAM1 Nonsynonymous SNV G562V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 256993 chr14 45603648 45603648 G A rs115291634 FKBP3 Synonymous SNV A4A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 256994 chr14 50092666 50092666 G T DNAAF2 Nonsynonymous SNV T655N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.975 256995 chr14 51219352 51219352 G C NIN Nonsynonymous SNV Q899E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 256996 chr14 55251159 55251159 C T rs200605562 SAMD4A Stop gain Q307X 0.001 0 0 0 1 0 0 0 0 0 0 0 5.142 256997 chr14 66188553 66188553 C T rs370341730 FUT8 Nonsynonymous SNV P136L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 256998 chr14 77843943 77843943 A - SAMD15 E62Rfs*16 0.001 0.003 0 0 1 1 0 0 0 0 0 0 256999 chr4 3494684 3494684 C T rs546889092 DOK7 Nonsynonymous SNV P14L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 23.8 257000 chr15 43579603 43579603 T C rs544843078 TGM7 Nonsynonymous SNV Y247C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 257001 chr15 43749255 43749255 A T rs765650512 TP53BP1 Synonymous SNV S517S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 257002 chr15 59408979 59408979 A G rs756700202 CCNB2 Nonsynonymous SNV I230V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 257003 chr15 74914548 74914548 C T CLK3 Stop gain Q301X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 257004 chr4 159620249 159620249 C T rs765063539 ETFDH Synonymous SNV Y300Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.17 257005 chr16 53705462 53705462 G A rs778195218 RPGRIP1L Nonsynonymous SNV R355W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 257006 chr5 135277037 135277037 G A rs375699598 FBXL21P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.662 257007 chr16 84230512 84230514 CTC - rs761472504 ADAD2 L564del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 257008 chr5 139889664 139889664 T C rs755574826 ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV N1334N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.097 257009 chr16 84493319 84493319 A G ATP2C2-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.26 257010 chr4 184931282 184931282 G C rs780335931 STOX2 Nonsynonymous SNV E431Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 257011 chr4 184932241 184932241 G A rs202163788 STOX2 Synonymous SNV A750A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.657 257012 chr4 186510846 186510846 G A rs61733558 SORBS2 Synonymous SNV D980D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.934 257013 chr4 186598546 186598546 C T rs78467275 SORBS2 Nonsynonymous SNV A33T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 257014 chr4 187005049 187005049 T A rs5743318 TLR3 Nonsynonymous SNV S737T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.09 257015 chr16 85689974 85689974 C T rs750219239 GSE1 Nonsynonymous SNV R235W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 257016 chr16 87678060 87678060 C T rs145973057 JPH3 Synonymous SNV R193R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 257017 chr4 189063625 189063625 G A rs112173910 TRIML1 Nonsynonymous SNV E242K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257018 chr5 163175 163175 G A rs75431703 PLEKHG4B Synonymous SNV T996T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.067 257019 chr16 88497809 88497809 C T rs187453092 ZNF469 Nonsynonymous SNV P1311S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 19.83 257020 chr5 1463806 1463806 G A rs112539594 LPCAT1 Nonsynonymous SNV S522L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.007 257021 chr5 1879927 1879927 C T rs1689721 IRX4 Nonsynonymous SNV G143S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 257022 chr16 88798794 88798794 G A rs541368471 PIEZO1 Synonymous SNV L980L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.73 257023 chr17 17079746 17079746 T C rs142563803 MPRIP Synonymous SNV L906L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.659 257024 chr16 88804833 88804833 G A PIEZO1 Nonsynonymous SNV S217L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 257025 chr5 7706989 7706989 C T rs75986905 ADCY2 Synonymous SNV N414N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 257026 chr5 7832119 7832119 C T rs11954873 C5orf49 Synonymous SNV V96V 0.003 0 0 0 4 0 0 0 0 0 0 0 8.731 257027 chr5 10461438 10461438 C T rs143784162 ROPN1L Nonsynonymous SNV T187M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 257028 chr5 10649601 10649601 G C rs60779468 ANKRD33B Synonymous SNV V287V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 257029 chr5 14681653 14681653 G C rs115519180 OTULIN Synonymous SNV L135L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 257030 chr5 14693034 14693034 G A rs146627270 OTULIN Synonymous SNV T312T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 257031 chr5 14713016 14713016 G A rs139351002 ANKH Synonymous SNV V444V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.705 257032 chr5 16754977 16754977 T C rs151323297 MYO10 Nonsynonymous SNV N630S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.4 257033 chr16 89862402 89862402 C T rs199634699 FANCA Synonymous SNV T306T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.85 257034 chr16 89949864 89949864 G A TCF25 Nonsynonymous SNV G100R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.053 257035 chr17 1959983 1959983 C A rs770371287 HIC1 Nonsynonymous SNV T19K 0.001 0.005 0 0 1 2 0 0 0 0 0 0 28.6 257036 chr5 17275461 17275461 G A rs149655189 BASP1 Nonsynonymous SNV A46T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 257037 chr5 31323245 31323245 T C rs34647063 CDH6 Synonymous SNV L735L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.148 257038 chr5 176316497 176316497 G A rs147916840 HK3 Nonsynonymous SNV R267C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 257039 chr5 34042975 34042975 G A rs113668504 C1QTNF3 Nonsynonymous SNV H86Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 257040 chr5 34864589 34864589 A C rs76195471 TTC23L Nonsynonymous SNV K204T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 257041 chr5 35694454 35694454 A G rs12332369 SPEF2 Nonsynonymous SNV E655G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.08 257042 chr5 37182954 37182954 C T rs142777778 CPLANE1 Nonsynonymous SNV V1777I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28 257043 chr5 43040023 43040023 T G rs144008686 ANXA2R Synonymous SNV P42P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.236 257044 chr17 27943143 27943143 C A CORO6 Synonymous SNV P137P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 257045 chr5 53814176 53814176 G A rs536255107 SNX18 Nonsynonymous SNV A132T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 257046 chr5 54581138 54581138 G A rs61730834 DHX29 Nonsynonymous SNV R447C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 257047 chr5 55203264 55203264 A G rs148100040 IL31RA Nonsynonymous SNV I425V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 257048 chr5 55809646 55809646 C T rs73125874 C5orf67 0.002 0 0 0 2 0 0 0 0 0 0 0 8.948 257049 chr5 56219019 56219019 T C rs36017815 MIER3 Nonsynonymous SNV N535S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.001 257050 chr5 57790557 57790557 G A rs148170353 GAPT Nonsynonymous SNV R65H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.099 257051 chr5 65108119 65108119 G A rs112883273 NLN Synonymous SNV G627G 0.002 0 0 0 2 0 0 0 1 0 0 0 9.048 257052 chr5 65440339 65440339 C T rs182413358 SREK1 Synonymous SNV I45I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 257053 chr5 66459339 66459339 G T rs372932780 MAST4 Synonymous SNV V1183V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.082 257054 chr5 72196820 72196820 A G rs765285062 TNPO1 Nonsynonymous SNV I772V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 257055 chr5 72383502 72383502 A C rs373822609 FCHO2 Nonsynonymous SNV S745R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 257056 chr17 26658978 26658978 G A rs202151572 IFT20 Nonsynonymous SNV H12Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.28 257057 chr5 74400505 74400505 C T rs73127382 ANKRD31 Nonsynonymous SNV D1570N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 257058 chr5 74518181 74518181 T C rs73116834 ANKRD31 Nonsynonymous SNV M61V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.99 257059 chr17 26890517 26890517 G A rs762445190 PIGS Nonsynonymous SNV P134S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 257060 chr17 38031610 38031610 A G ZPBP2 Nonsynonymous SNV Q249R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 257061 chr17 27383216 27383216 G A rs375503018 PIPOX Nonsynonymous SNV V356M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 257062 chr5 78379026 78379026 G A rs139123468 BHMT2 Nonsynonymous SNV V140I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 257063 chr5 78596056 78596056 G A rs34032465 JMY Synonymous SNV Q536Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.8 257064 chr5 79372721 79372721 G A rs2229396 THBS4 Nonsynonymous SNV V555I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.98 257065 chr5 82833977 82833977 A T rs113965318 VCAN Nonsynonymous SNV T732S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 257066 chr5 82834398 82834398 C A rs34050047 VCAN Nonsynonymous SNV A872E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.404 257067 chr5 82834945 82834945 C T rs113659987 VCAN Synonymous SNV I1054I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.35 257068 chr5 82835059 82835059 G A rs80200229 VCAN Synonymous SNV K1092K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.087 257069 chr5 89989866 89989866 C T rs77791584 ADGRV1 Synonymous SNV A2431A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.883 257070 chr5 94878992 94878992 C T rs114914951 TTC37 Nonsynonymous SNV V44I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.5 257071 chr5 94891059 94891059 G C rs61733082 ARSK Nonsynonymous SNV R26P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 257072 chr5 96512971 96512971 T G rs767045233 RIOK2 Nonsynonymous SNV E116A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 257073 chr5 107717088 107717088 C T rs566797903 FBXL17 Nonsynonymous SNV R102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.9 257074 chr5 111540092 111540092 A C rs6865673 EPB41L4A Synonymous SNV S452S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 257075 chr17 38497928 38497928 T C rs866365400 RARA-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 18.9 257076 chr17 40997070 40997070 C T rs369712879 AOC2 Nonsynonymous SNV P143S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.4 257077 chr5 113698372 113698372 G C rs1058999 KCNN2 Nonsynonymous SNV G179A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.25 257078 chr5 114860039 114860039 T G FEM1C Nonsynonymous SNV E607A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.45 257079 chr5 118464964 118464964 C T rs79928338 DMXL1 Synonymous SNV T387T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.28 257080 chr17 42082277 42082277 G A rs747154237 NAGS Synonymous SNV P82P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.863 257081 chr5 118506484 118506484 A G rs115843760 DMXL1 Nonsynonymous SNV I2000V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 257082 chr5 121413402 121413402 C T rs750204955 LOX Synonymous SNV L93L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 257083 chr5 122724133 122724133 T C rs778311900 CEP120 Nonsynonymous SNV I449V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 257084 chr5 127133851 127133851 C T rs57934074 CCDC192 Synonymous SNV A155A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.632 257085 chr17 43003522 43003522 G C rs199637788 KIF18B Nonsynonymous SNV R829G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.17 257086 chr5 132150288 132150288 C G rs114635812 SOWAHA Nonsynonymous SNV H325Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 257087 chr5 134782722 134782722 A T rs148737665 DCANP1 Nonsynonymous SNV L26Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 257088 chr5 134871280 134871280 C T rs34137563 NEUROG1 Nonsynonymous SNV R34K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.14 257089 chr5 137621767 137621767 A G rs998725442 CDC25C Nonsynonymous SNV Y333H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 257090 chr6 44224544 44224544 G A SLC35B2 Nonsynonymous SNV P28L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.4 257091 chr5 139909036 139909036 C T rs114408587 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV P2169S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 257092 chr17 48186749 48186749 T G rs767009276 PDK2 Synonymous SNV A292A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.11 257093 chr17 48540854 48540854 C T rs974721066 ACSF2 Synonymous SNV L169L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.852 257094 chr17 48918206 48918206 C T rs749861896 WFIKKN2 Synonymous SNV N426N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 257095 chr6 49667524 49667524 G A rs547231588 CRISP2 Synonymous SNV R88R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.627 257096 chr5 140572853 140572853 C A PCDHB10 Nonsynonymous SNV A243D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.56 257097 chr5 140573238 140573238 T A rs142177645 PCDHB10 Nonsynonymous SNV N371K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.118 257098 chr6 90305710 90305710 T C ANKRD6 Nonsynonymous SNV C66R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 257099 chr5 140744953 140744953 G A rs115453161 PCDHGA5 Synonymous SNV L352L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.944 257100 chr17 57760472 57760472 A C rs369168446 CLTC Nonsynonymous SNV E1301A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 257101 chr5 141693833 141693833 C T rs142439525 SPRY4 Nonsynonymous SNV V281I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 257102 chr5 142500683 142500683 A G rs141872257 ARHGAP26 Nonsynonymous SNV I557V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.473 257103 chr5 145826954 145826954 C T rs6884478 TCERG1 Synonymous SNV F14F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.78 257104 chr5 145895246 145895246 G A rs7713676 GPR151 Nonsynonymous SNV A144V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.8 257105 chr17 60813964 60813964 C T rs150345551 MARCHF10 Nonsynonymous SNV S422N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.496 257106 chr17 60837208 60837208 C T rs141415486 MARCHF10 Nonsynonymous SNV E124K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 257107 chr5 146793222 146793222 T G DPYSL3 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 257108 chr17 48265976 48265976 G A COL1A1 Nonsynonymous SNV P1041L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 257109 chr5 148422309 148422309 A T rs77574155 SH3TC2 Synonymous SNV S159S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 257110 chr5 149212624 149212624 C T rs45470697 PPARGC1B Nonsynonymous SNV R291W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.41 257111 chr6 116574452 116574452 C T rs201915650 TSPYL4 Nonsynonymous SNV M240I 0 0 0 2 0 0 0.005 0 0 0 0 0 27.3 257112 chr5 149212802 149212802 C A rs45519432 PPARGC1B Nonsynonymous SNV S350Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.07 257113 chr5 149214906 149214906 A G rs45458196 PPARGC1B Synonymous SNV T556T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.871 257114 chr6 117631302 117631302 G C rs138376257 ROS1 Nonsynonymous SNV R2126G 0 0 0 2 0 0 0.005 0 0 0 0 0 33 257115 chr5 150429452 150429452 G A rs2233295 TNIP1 Nonsynonymous SNV A207V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.27 257116 chr17 67047251 67047251 A C ABCA9 Nonsynonymous SNV M6R 0.003 0 0 0 3 0 0 0 1 0 0 0 0.038 257117 chr17 65717502 65717502 A G NOL11 Synonymous SNV A107A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.908 257118 chr5 150917484 150917484 A G rs6898578 FAT2 Synonymous SNV H3021H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.719 257119 chr5 157170775 157170775 G T rs199860496 LSM11 Nonsynonymous SNV R6L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 257120 chr5 158634776 158634776 A G RNF145 Nonsynonymous SNV L11S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 257121 chr5 159519956 159519956 A G rs58423476 PWWP2A Synonymous SNV Y567Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 257122 chr6 147055042 147055042 C A ADGB Nonsynonymous SNV D890E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.997 257123 chr5 169412879 169412879 G A rs36028557 DOCK2 Synonymous SNV K982K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.132 257124 chr5 171766397 171766397 G A rs111230322 SH3PXD2B Nonsynonymous SNV P571L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.004 257125 chr5 176289818 176289818 G A rs690832 UNC5A Synonymous SNV V88V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 257126 chr5 176894560 176894560 G A rs149833219 DBN1 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.12 257127 chr5 176911156 176911156 C A rs28367007 PDLIM7 Synonymous SNV V362V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.75 257128 chr5 176930206 176930206 C T rs140904765 DOK3 Nonsynonymous SNV S176N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 257129 chr5 177547695 177547695 A T rs374328672 N4BP3 Nonsynonymous SNV T283S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 257130 chr5 177548240 177548240 C T rs189683566 N4BP3 Nonsynonymous SNV R332C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 257131 chr5 177569633 177569633 G A rs374022084 RMND5B Synonymous SNV Q50Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.193 257132 chr5 177689228 177689228 T C rs377720156 COL23A1 Nonsynonymous SNV D222G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.711 257133 chr5 178140619 178140619 G A rs149304369 ZNF354A Nonsynonymous SNV S45L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.308 257134 chr5 178413185 178413185 G A rs140678500 GRM6 Synonymous SNV P690P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.506 257135 chr5 178460540 178460540 A G rs769233935 ZNF879 Nonsynonymous SNV M531V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 257136 chr5 178541159 178541159 G A rs375463371 ADAMTS2 Synonymous SNV D1115D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.323 257137 chr5 179160185 179160185 C T rs76621265 MAML1 Synonymous SNV R24R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.82 257138 chr5 179545631 179545631 G A rs369386547 RASGEF1C Nonsynonymous SNV T354M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 257139 chr17 76799835 76799835 C A rs3744797 USP36 Nonsynonymous SNV K814N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.7 257140 chr17 76887360 76887360 G C rs118160201 CEP295NL Nonsynonymous SNV P409R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.72 257141 chr17 76887658 76887658 G A rs117232607 CEP295NL Stop gain Q310X 0.003 0.003 0 0 4 1 0 0 0 0 0 0 32 257142 chr17 76887854 76887854 C A rs59666014 CEP295NL Nonsynonymous SNV R244S 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.833 257143 chr5 180622223 180622223 G A rs115128773 TRIM7 Synonymous SNV R311R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 257144 chr6 168431482 168431482 C T rs199956268 KIF25 Nonsynonymous SNV A41V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.006 257145 chr17 76968109 76968109 C G rs148972972 LGALS3BP Nonsynonymous SNV R436P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 0.186 257146 chr17 72832755 72832755 G A rs755546280 TMEM104 Nonsynonymous SNV V474M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 257147 chr6 656256 656256 C T rs200216137 HUS1B Nonsynonymous SNV R230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 257148 chr6 2766027 2766027 C T rs186673310 WRNIP1 Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 257149 chr17 7813786 7813786 G A rs369541480 CHD3 Synonymous SNV A1843A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 257150 chr17 73279534 73279534 G T rs761904219 SLC25A19 Synonymous SNV R143R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.64 257151 chr6 4892381 4892381 C T rs734783 CDYL Synonymous SNV T21T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.2 257152 chr6 5085953 5085953 C T rs111286900 PPP1R3G Synonymous SNV R78R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 257153 chr6 7580564 7580564 A T rs77758574 DSP Nonsynonymous SNV T1381S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.195 257154 chr6 7585490 7585490 G A rs35379048 DSP Synonymous SNV T2066T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.93 257155 chr6 8413850 8413850 A G rs138555152 SLC35B3 Nonsynonymous SNV S317P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 257156 chr6 10930731 10930731 C T rs61741402 SYCP2L Synonymous SNV T539T 0.002 0 0 0 2 0 0 0 1 0 0 0 8.212 257157 chr6 10990028 10990028 C T rs6919726 ELOVL2 Nonsynonymous SNV V225M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 257158 chr6 12122102 12122102 T G rs79027391 HIVEP1 Nonsynonymous SNV F692V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.9 257159 chr6 12124312 12124312 A G rs78106828 HIVEP1 Synonymous SNV P1428P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.991 257160 chr6 13307903 13307903 C T rs34393712 TBC1D7, TBC1D7-LOC100130357 Synonymous SNV A171A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.8 257161 chr6 16274654 16274654 C T rs114417367 GMPR Synonymous SNV N158N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 16.01 257162 chr6 16295417 16295417 - C rs201015786 GMPR X346delinsX 0.001 0 0 0 1 0 0 0 0 0 0 0 257163 chr6 16327973 16327973 G A rs375508636 ATXN1 Nonsynonymous SNV T190M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 257164 chr6 24840986 24840986 G A rs75574668 RIPOR2 Synonymous SNV D630D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.82 257165 chr6 24847851 24847851 G C rs74477879 RIPOR2 Nonsynonymous SNV F382L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.72 257166 chr6 24848331 24848331 T C rs35698586 RIPOR2 Synonymous SNV A362A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.614 257167 chr6 24848345 24848345 C A rs35254980 RIPOR2 Nonsynonymous SNV A358S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.94 257168 chr6 25450889 25450889 C G rs371039331 CARMIL1 Synonymous SNV T188T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 257169 chr17 9489207 9489207 - AGC rs780399162 CFAP52 H63delinsQA 0.001 0 0 0 1 0 0 0 0 0 0 0 257170 chr17 9489208 9489208 T A rs148905544 CFAP52 Nonsynonymous SNV H63Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 257171 chr6 25916087 25916087 G A rs115577175 SLC17A2 Synonymous SNV L314L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 257172 chr6 26017376 26017376 G A rs34998486 H1-1 Synonymous SNV A195A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.635 257173 chr6 26020783 26020783 C G rs61735215 H3C1 Synonymous SNV A22A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.201 257174 chr6 26027214 26027214 G A rs116366733 H4C2 Synonymous SNV Y89Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.081 257175 chr6 26045731 26045731 G A rs77229960 H3C3 Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 257176 chr6 26056482 26056482 G A rs61743777 H1-2 Synonymous SNV L59L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.12 257177 chr6 33608330 33608330 T C rs141783150 ITPR3 Synonymous SNV R53R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 257178 chr6 34622535 34622535 G A rs373019670 ILRUN Synonymous SNV G60G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 257179 chr7 30825506 30825506 G A rs74821332 MINDY4 Synonymous SNV S187S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.177 257180 chr17 79173215 79173215 G A rs775092276 CEP131 Synonymous SNV G386G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.816 257181 chr6 36981499 36981499 C T rs80344574 FGD2 Synonymous SNV T214T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.909 257182 chr6 38854645 38854645 A G rs116401640 DNAH8 Nonsynonymous SNV I2563V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.18 257183 chr6 39158773 39158773 G T rs9462487 KCNK5 Nonsynonymous SNV P465T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 257184 chr6 42236417 42236417 T C rs560939131 TRERF1 Synonymous SNV P304P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257185 chr6 42987072 42987072 C T rs34650379 KLHDC3 Synonymous SNV N350N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.67 257186 chr18 11884527 11884527 C - MPPE1 V307Sfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 257187 chr6 43029249 43029249 A G rs61743333 KLC4 Nonsynonymous SNV H59R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 257188 chr6 43139532 43139532 G A rs548562090 SRF Synonymous SNV G46G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.988 257189 chr6 44329635 44329635 C T rs116214111 SPATS1 Synonymous SNV V160V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 257190 chr6 44358007 44358007 T C rs61753595 CDC5L Synonymous SNV D16D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 257191 chr6 44387314 44387314 A G rs113422908 CDC5L Synonymous SNV T407T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.777 257192 chr6 49587034 49587034 A G rs116356543 RHAG Nonsynonymous SNV F67L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 257193 chr6 49754494 49754494 G C rs35008434 PGK2 Nonsynonymous SNV S136C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 257194 chr6 51910931 51910931 G C rs9474136 PKHD1 Synonymous SNV A821A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.419 257195 chr6 52143560 52143560 A G rs2307328 MCM3 Nonsynonymous SNV F241L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 257196 chr6 52767205 52767205 T G rs1052661 GSTA3 Nonsynonymous SNV I21L 0.002 0.003 0 0 2 1 0 0 1 0 0 0 25.9 257197 chr6 52881022 52881022 A G rs113315648 CILK1 Synonymous SNV L230L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.362 257198 chr6 53363572 53363572 T G GCLC Nonsynonymous SNV K594N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 257199 chr6 55739302 55739302 T C rs35124644 BMP5 Nonsynonymous SNV N121S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.168 257200 chr6 55966311 55966311 A G rs75605879 COL21A1 Nonsynonymous SNV S588P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.1 257201 chr6 62442594 62442594 T C rs111849427 KHDRBS2 Nonsynonymous SNV T296A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.521 257202 chr6 62604712 62604712 G A rs139228211 KHDRBS2 Nonsynonymous SNV P213L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 257203 chr6 65300716 65300716 C A rs75831552 EYS Nonsynonymous SNV D1682Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 257204 chr6 65622506 65622506 G A rs112495229 EYS Nonsynonymous SNV P838S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.62 257205 chr18 43437955 43437955 A G EPG5 Synonymous SNV N2435N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.548 257206 chr6 70992711 70992711 C A rs73745362 COL9A1 Synonymous SNV L15L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 257207 chr6 72011674 72011674 C T rs113493807 OGFRL1 Synonymous SNV N427N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.488 257208 chr6 72889549 72889549 C T rs116476753 RIMS1 Nonsynonymous SNV S248L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 13.98 257209 chr7 92733170 92733170 A G SAMD9 Synonymous SNV A747A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.048 257210 chr6 73879494 73879494 T C rs201298765 KCNQ5 Synonymous SNV D489D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.375 257211 chr6 75875434 75875434 A G rs35429515 COL12A1 Synonymous SNV Y924Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 2.805 257212 chr6 76024419 76024419 T C rs61736188 FILIP1 Nonsynonymous SNV M377V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.302 257213 chr6 76660715 76660715 C A rs9443201 IMPG1 Nonsynonymous SNV G385V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 257214 chr6 80223040 80223040 T C rs139613544 LCA5 Synonymous SNV L203L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.231 257215 chr18 55143788 55143788 C T rs755413489 ONECUT2 Nonsynonymous SNV R450C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 257216 chr6 84270657 84270657 C T rs772647938 SNAP91 Nonsynonymous SNV V511I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 257217 chr6 86256863 86256863 C A rs146849758 SNX14 Nonsynonymous SNV A315S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.3 257218 chr6 90452997 90452997 T C rs115642571 MDN1 Synonymous SNV E1440E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 257219 chr18 65179205 65179205 T G rs374312689 DSEL Nonsynonymous SNV I881L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 257220 chr6 99893830 99893830 G A rs111592029 USP45 Synonymous SNV T548T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.31 257221 chr6 105526424 105526424 C T rs140802515 LIN28B Synonymous SNV P173P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.822 257222 chr6 107955933 107955933 - GCCCCCCGG rs777673712 SOBP G635_A636insPPG 0.001 0 0 0 1 0 0 0 0 0 0 0 257223 chr6 109505249 109505249 T C rs140642679 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 257224 chr6 109520854 109520854 G T rs112949109 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.903 257225 chr7 99032704 99032704 G A rs770505046 ATP5MF-PTCD1, PTCD1 Synonymous SNV P54P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.16 257226 chr6 109538443 109538443 T C rs150033031 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 257227 chr6 109538508 109538508 G T rs145378451 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.301 257228 chr6 109538536 109538536 G T rs144957143 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.116 257229 chr6 109538566 109538566 G T rs147552865 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.412 257230 chr6 109548808 109548808 C T rs550137621 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.647 257231 chr6 109820397 109820397 C T rs73520970 AK9 Synonymous SNV L1632L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.66 257232 chr6 110567306 110567306 C T rs145979865 METTL24 Nonsynonymous SNV R118Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 257233 chr6 110714206 110714206 G T rs145423307 DDO Nonsynonymous SNV H153Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257234 chr6 111310252 111310252 G A rs6909298 RPF2 Nonsynonymous SNV G60S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.34 257235 chr6 111694187 111694187 G A rs17539651 REV3L Nonsynonymous SNV P1791S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.595 257236 chr18 77477874 77477874 A T CTDP1 Nonsynonymous SNV M640L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.46 257237 chr6 112382382 112382382 C T rs112665393 CCN6 Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.17 257238 chr6 112441505 112441505 T C rs12110554 LAMA4 Nonsynonymous SNV N1549S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.56 257239 chr6 112508730 112508730 G A rs17073495 LAMA4 Synonymous SNV S296S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.36 257240 chr6 117113461 117113461 G A rs114066977 GPRC6A Synonymous SNV S804S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.113 257241 chr6 117113806 117113806 G C rs150642020 GPRC6A Synonymous SNV A689A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.389 257242 chr6 117704600 117704600 C G rs140511382 ROS1 Nonsynonymous SNV M792I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 257243 chr6 118887333 118887333 T C rs73766561 CEP85L Nonsynonymous SNV T127A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.005 257244 chr6 121563434 121563434 G T rs114838725 TBC1D32 Synonymous SNV T690T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.9 257245 chr6 123594486 123594486 T C rs7771303 TRDN Nonsynonymous SNV I540M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 0.01 257246 chr6 127469804 127469804 G A rs145301858 RSPO3 Nonsynonymous SNV V37I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 257247 chr6 128150946 128150946 G A rs147408722 THEMIS Synonymous SNV L128L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.574 257248 chr6 129511415 129511415 T C rs9492266 LAMA2 Synonymous SNV N511N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.316 257249 chr6 132910145 132910145 G A rs36116159 TAAR5 Synonymous SNV T227T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 2.977 257250 chr6 132966235 132966235 A G rs1045972396 TAAR1 Nonsynonymous SNV V303A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 257251 chr6 133004281 133004281 A G rs61729583 VNN1 X514Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.021 257252 chr6 133013576 133013576 G T rs34535050 VNN1 Nonsynonymous SNV A325E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.609 257253 chr7 107336408 107336408 A C rs200511789 SLC26A4 Nonsynonymous SNV I490L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 257254 chr6 133105139 133105139 A G rs151202803 SLC18B1 Synonymous SNV P197P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.557 257255 chr6 137519483 137519483 G A rs148989052 IFNGR1 Synonymous SNV N385N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.13 257256 chr19 12963059 12963059 C T rs868652170 MAST1 Nonsynonymous SNV P336L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 257257 chr6 139048539 139048539 G C rs142320380 GVQW2 0.001 0 0 0 1 0 0 0 0 0 0 0 1.087 257258 chr6 142454988 142454988 T C rs76793194 GJE1 Nonsynonymous SNV V14A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 257259 chr6 144779932 144779932 A C rs141598253 UTRN Nonsynonymous SNV N771H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.191 257260 chr6 145948645 145948645 C G rs141361861 EPM2A Nonsynonymous SNV G221R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.08 257261 chr19 14042581 14042581 G T PODNL1 Nonsynonymous SNV T572N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 257262 chr6 146126643 146126643 T A rs150848751 FBXO30 Nonsynonymous SNV N300I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.331 257263 chr6 146755454 146755454 G T rs144944927 GRM1 Nonsynonymous SNV G1036V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.35 257264 chr6 146956514 146956514 C A rs149944585 ADGB Nonsynonymous SNV F26L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.105 257265 chr6 147525638 147525643 TCCCGG - rs764358492 STXBP5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 257266 chr6 147525646 147525653 TGCGGGGG - rs774445038 STXBP5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 257267 chr6 147599300 147599300 A G rs142856658 STXBP5 Synonymous SNV V266V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.14 257268 chr6 150147424 150147424 C T rs9478144 LRP11 Nonsynonymous SNV G442R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 257269 chr6 150164148 150164148 G A rs140661757 LRP11 Nonsynonymous SNV T295I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 257270 chr6 151187070 151187081 GGCGGCGGCGGT - rs1045554465 MTHFD1L G39_G42del 0.001 0 0 0 1 0 0 0 0 0 0 0 257271 chr6 151726371 151726371 C T rs115079861 RMND1 Synonymous SNV X280X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.95 257272 chr6 151789653 151789653 C T rs58387877 ARMT1 Nonsynonymous SNV A126V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 257273 chr6 151907109 151907109 G A rs75944154 CCDC170 Nonsynonymous SNV R393K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.2 257274 chr6 152542057 152542057 G T rs138032057 SYNE1 Synonymous SNV R7190R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.57 257275 chr19 19459967 19459967 G A rs142482998 MAU2 Synonymous SNV S454S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.52 257276 chr6 155129332 155129332 A G rs61753575 SCAF8 Synonymous SNV Q370Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.401 257277 chr19 17311525 17311525 C A rs192317622 MYO9B Synonymous SNV R1484R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 257278 chr19 21216384 21216384 C T rs368614522 ZNF430 Synonymous SNV F73F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 7.329 257279 chr6 158074641 158074641 G T rs35358008 ZDHHC14 Synonymous SNV T350T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 257280 chr19 17013645 17013645 G A rs776617277 CPAMD8 Nonsynonymous SNV P1500L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 257281 chr6 159026379 159026379 T C rs16900870 TMEM181 Synonymous SNV T328T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.464 257282 chr6 159185582 159185582 G T rs140279225 SYTL3 Nonsynonymous SNV Q387H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13 257283 chr19 17424911 17424911 C T rs368357964 DDA1 Nonsynonymous SNV S28L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 257284 chr7 128802241 128802241 C A rs771048133 TSPAN33 Nonsynonymous SNV A56D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.2 257285 chr6 159407416 159407416 C T rs41267751 RSPH3 Nonsynonymous SNV R223Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.403 257286 chr7 142562055 142562055 C T rs192960264 EPHB6 Nonsynonymous SNV S166F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 15.7 257287 chr6 159420545 159420545 G C rs61750776 RSPH3 Nonsynonymous SNV P155R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.833 257288 chr7 143000984 143000984 C T CASP2 Nonsynonymous SNV P359S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 257289 chr19 1785166 1785166 G A rs749065705 ATP8B3 Nonsynonymous SNV P1138L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.8 257290 chr7 135433302 135433302 C T rs143739653 FAM180A Synonymous SNV L9L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 257291 chr6 160899627 160899627 G A rs73784210 LPAL2 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 257292 chr6 160977059 160977059 A C rs59566810 LPA Nonsynonymous SNV N1657K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 257293 chr6 161007563 161007563 C T rs41272102 LPA Synonymous SNV T1349T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 257294 chr6 161143565 161143565 C T rs4252119 PLG Nonsynonymous SNV R408W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.88 257295 chr6 161519351 161519362 CTGCTGCTGCTG - rs776830478 MAP3K4 A1192_A1195del 0.001 0 0 0 1 0 0 0 0 0 0 0 257296 chr6 161519360 161519362 CTG - MAP3K4 A1195del 0.001 0 0 0 1 0 0 0 0 0 0 0 257297 chr6 162206892 162206892 T C rs9456711 PRKN Synonymous SNV L112L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 8.543 257298 chr6 165693598 165693598 C A rs142050027 C6orf118 Nonsynonymous SNV G453V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.16 257299 chr19 18547632 18547632 C T ISYNA1 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 257300 chr6 167709602 167709602 A G rs142972899 UNC93A Nonsynonymous SNV T118A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257301 chr6 168376892 168376892 - AGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGG rs769326238 HGC6.3 P150_Q151insTHCRGSDPHCLLLP 0.001 0 0 0 1 0 0 0 0 0 0 0 257302 chr6 168462604 168462604 A G rs35227364 FRMD1 Nonsynonymous SNV Y242H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 257303 chr6 168709273 168709273 G A rs115241161 DACT2 Synonymous SNV D218D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.6 257304 chr6 169623350 169623350 G A rs35671519 THBS2 Synonymous SNV I998I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.093 257305 chr6 169629724 169629724 G A rs35716236 THBS2 Synonymous SNV D734D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.43 257306 chr6 169639700 169639700 G A rs35404985 THBS2 Nonsynonymous SNV L375F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 257307 chr19 2138621 2138621 C T rs749746876 AP3D1 Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 257308 chr7 143039088 143039088 C T rs762754992 CLCN1 Nonsynonymous SNV T550M 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 34 257309 chr6 169648760 169648760 C T rs34332730 THBS2 Nonsynonymous SNV A121T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.06 257310 chr6 170049354 170049354 G A rs34313252 WDR27 Nonsynonymous SNV P309L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 257311 chr6 170058045 170058045 - A rs530918167 WDR27 Frameshift insertion F434Lfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 257312 chr6 170105725 170105725 T C rs4286788 PHF10 Synonymous SNV Q403Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.246 257313 chr7 193245 193245 G T rs150401144 FAM20C Nonsynonymous SNV V16L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.34 257314 chr7 766429 766429 G A rs9719797 DNAAF5 Synonymous SNV A24A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.08 257315 chr7 900000 900000 C T rs114701323 SUN1 Nonsynonymous SNV A484V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.68 257316 chr7 1028369 1028369 G C rs139268609 CYP2W1 Nonsynonymous SNV V462L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.803 257317 chr7 1275651 1275651 C T rs151119092 UNCX Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 257318 chr7 1786701 1786701 G A rs114713154 ELFN1 Synonymous SNV S823S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.15 257319 chr7 2354034 2354034 G C rs146149554 SNX8 Nonsynonymous SNV P8R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 257320 chr7 2400417 2400417 A G rs143426217 EIF3B Nonsynonymous SNV N191S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 257321 chr7 2473059 2473059 A C rs201924381 CHST12 Nonsynonymous SNV E262A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.586 257322 chr7 158705761 158705761 C T rs187658316 WDR60 Nonsynonymous SNV P368L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 257323 chr19 2431784 2431784 G A rs372581793 LMNB2 Synonymous SNV G569G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.926 257324 chr8 8197010 8197010 C G PRAG1 Nonsynonymous SNV R766S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 257325 chr7 5257600 5257600 G A rs61736544 WIPI2 Synonymous SNV L149L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.752 257326 chr19 38376330 38376330 G A rs201341562 WDR87 Stop gain Q2661X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 257327 chr19 38376984 38376984 T C WDR87 Nonsynonymous SNV T2443A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.101 257328 chr7 5540245 5540245 T C rs74478333 FBXL18 Nonsynonymous SNV N552S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.011 257329 chr7 5752432 5752432 C T rs28444267 RNF216 Synonymous SNV K632K 0.001 0.003 0.007 1 1 1 0.003 2 0 0 1 0 Benign 16.8 257330 chr19 35551595 35551595 G T HPN Nonsynonymous SNV G229C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 257331 chr7 6194443 6194443 C T rs112032105 USP42 Synonymous SNV A1086A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 13.55 257332 chr7 6623032 6623032 T G rs115699749 ZDHHC4 Nonsynonymous SNV L156V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.51 257333 chr7 6682620 6682620 C T rs148615334 ZNF316 Synonymous SNV A127A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.67 257334 chr7 8272259 8272259 A G rs111929656 ICA1 Synonymous SNV H48H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.993 257335 chr7 12384089 12384089 C A rs17165872 VWDE Nonsynonymous SNV C1183F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 257336 chr7 12433391 12433391 A T rs57885954 VWDE Synonymous SNV S24S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.271 257337 chr7 16298624 16298624 G T rs114363936 CRPPA Nonsynonymous SNV T266K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.68 257338 chr19 41096310 41096310 G A rs201537637 SHKBP1 Nonsynonymous SNV G584S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 257339 chr7 16445874 16445874 G A rs61744487 CRPPA Nonsynonymous SNV R116C 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Conflicting interpretations of pathogenicity 26.5 257340 chr7 16734467 16734467 T C rs706036 BZW2 Synonymous SNV F26F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.503 257341 chr7 16913457 16913457 A G rs55900499 AGR3 Synonymous SNV D40D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 257342 chr7 18067404 18067404 G A rs73313931 PRPS1L1 Nonsynonymous SNV T1M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.9 257343 chr7 20766752 20766752 G T rs35885925 ABCB5 Nonsynonymous SNV Q460H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.17 257344 chr19 38935231 38935231 C T rs774285690 RYR1 Nonsynonymous SNV S182L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 31 257345 chr7 21920412 21920412 G A rs72658820 DNAH11 Synonymous SNV R4096R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.02 257346 chr7 22985344 22985344 T A FAM126A Nonsynonymous SNV D477V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 257347 chr19 44047839 44047839 C T rs2307182 XRCC1 Synonymous SNV G571G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 257348 chr7 27213188 27213188 C A rs150556405 HOXA10 Synonymous SNV P246P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 257349 chr7 27282936 27282936 C A rs779516582 EVX1 Nonsynonymous SNV P96H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 257350 chr7 30795110 30795110 G A rs115699009 INMT Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.017 257351 chr7 32528946 32528946 G A rs58033609 LSM5 Synonymous SNV D19D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.434 257352 chr7 34010012 34010012 G A rs62623441 BMPER Nonsynonymous SNV M158I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.691 257353 chr7 36763657 36763657 G A rs73346026 AOAH Nonsynonymous SNV P33S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257354 chr7 37923987 37923987 A G rs142516478 NME8 Synonymous SNV Q359Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 0.055 257355 chr7 39379334 39379334 A G rs151293651 POU6F2 Nonsynonymous SNV N231S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.018 257356 chr7 43506053 43506053 G A rs111254619 HECW1 Synonymous SNV R899R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 257357 chr19 4556051 4556051 C A rs73527729 SEMA6B Synonymous SNV T140T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257358 chr7 44104805 44104805 C T rs112828964 PGAM2 Synonymous SNV G108G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 9.212 257359 chr7 44112997 44112997 C - rs28382660 POLM K398Sfs*25 0.001 0 0.003 0 1 0 0 1 0 0 0 0 257360 chr7 44153335 44153335 C T rs141977965 AEBP1 Synonymous SNV R984R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 257361 chr7 44153618 44153618 G A rs138297087 AEBP1 Nonsynonymous SNV E1079K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 257362 chr8 70498593 70498593 C A rs149562933 SULF1 Synonymous SNV A138A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.06 257363 chr7 44804989 44804989 G A rs114574038 ZMIZ2 Nonsynonymous SNV V659M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 257364 chr7 45007491 45007491 C T rs145829400 MYO1G Synonymous SNV L547L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 257365 chr7 45010595 45010595 C T rs144037510 MYO1G Nonsynonymous SNV E304K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 257366 chr7 45067314 45067314 G C rs147668138 CCM2 Nonsynonymous SNV S4T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 257367 chr7 45104124 45104124 G A rs35888291 CCM2 Synonymous SNV A59A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.886 257368 chr7 45125165 45125165 C T rs112163190 NACAD Nonsynonymous SNV R205Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.21 257369 chr19 4652394 4652394 C T rs562889814 TNFAIP8L1 Synonymous SNV R171R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 257370 chr7 45125486 45125486 T A rs116795021 NACAD Nonsynonymous SNV E98V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257371 chr7 47968928 47968928 A G rs75505495 PKD1L1 Synonymous SNV R311R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.019 257372 chr8 49643975 49643975 T G EFCAB1 Nonsynonymous SNV D49A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 257373 chr7 50180898 50180898 T A rs61754912 SPATA48 Nonsynonymous SNV N333K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.86 257374 chr7 53103977 53103977 G T rs115225886 POM121L12 Nonsynonymous SNV G205C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 257375 chr7 55238227 55238227 C T rs10258568 EGFR Nonsynonymous SNV S703F 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 8.016 257376 chr7 56146191 56146191 G A rs115573278 SUMF2 Nonsynonymous SNV V187I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 257377 chr19 46998242 46998242 G C rs774349867 PNMA8B Nonsynonymous SNV R161G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 257378 chr7 64863560 64863560 G A rs148459095 ZNF92 Nonsynonymous SNV R102H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 257379 chr19 47422580 47422580 T C ARHGAP35 Synonymous SNV F216F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.012 257380 chr19 49510363 49510363 G A rs376343478 RUVBL2 Synonymous SNV A84A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 257381 chr19 47844253 47844253 G A rs759395580 C5AR2 Nonsynonymous SNV R66Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.04 257382 chr7 73731911 73731911 G A rs151111065 CLIP2 Nonsynonymous SNV R12H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 257383 chr19 46506414 46506414 C T rs200651280 CCDC61 Synonymous SNV F46F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.19 257384 chr8 125058140 125058140 G T rs764321923 FER1L6 Nonsynonymous SNV V908L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 257385 chr7 82580531 82580531 C T rs145077014 PCLO Nonsynonymous SNV D3125N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 257386 chr7 82585758 82585758 G C rs61995910 PCLO Nonsynonymous SNV T1504S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.692 257387 chr7 87507375 87507375 C A rs34483317 DBF4 Synonymous SNV I18I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.19 257388 chr19 51217497 51217497 C T rs111292432 SHANK1 Synonymous SNV K194K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.06 257389 chr7 88964350 88964350 C A rs77804968 ZNF804B Nonsynonymous SNV T685N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 257390 chr8 135614893 135614893 G A rs143158019 ZFAT Nonsynonymous SNV R295C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 257391 chr7 90419951 90419951 C T rs78919227 CDK14 Synonymous SNV F47F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 257392 chr7 91659259 91659259 T C rs73407505 AKAP9 Nonsynonymous SNV M1400T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 0.021 257393 chr7 92027080 92027080 C T rs61740421 ANKIB1 Synonymous SNV S813S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.99 257394 chr7 92734416 92734416 A G rs76377166 SAMD9 Nonsynonymous SNV I332T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.002 257395 chr7 94056941 94056941 C T rs548761767 COL1A2 Synonymous SNV G1090G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.725 257396 chr7 95614272 95614272 G A rs139485962 DYNC1I1 Synonymous SNV E222E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.817 257397 chr7 98527688 98527688 G A rs34480817 TRRAP Synonymous SNV S1084S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.7 257398 chr7 98630599 98630599 G A rs112109142 LOC101927550 0.001 0 0 0 1 0 0 0 0 0 0 0 6.38 257399 chr7 98633282 98633282 G A rs75899937 SMURF1 Synonymous SNV L623L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 257400 chr7 99032677 99032677 C G rs114565866 ATP5MF-PTCD1, PTCD1 Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.975 257401 chr7 99032735 99032735 G A rs34452317 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV A44V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.76 257402 chr7 99096381 99096381 T C rs61737532 ZNF394 Nonsynonymous SNV R181G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.438 257403 chr7 99110105 99110105 G A rs61739592 ZKSCAN5 Synonymous SNV R148R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.36 257404 chr19 49675027 49675027 G A rs775091137 TRPM4 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.9 257405 chr7 100276059 100276059 C T rs150086689 GNB2 Synonymous SNV D246D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 257406 chr8 144921686 144921686 C T NRBP2 Synonymous SNV A160A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.32 257407 chr19 53304120 53304120 T C rs773648371 ZNF28 Synonymous SNV P273P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.236 257408 chr19 51843704 51843704 G T VSIG10L Nonsynonymous SNV A391D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 257409 chr8 146033280 146033280 A G ZNF517 Nonsynonymous SNV I320V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 257410 chr9 4834188 4834188 C T rs113668857 RCL1 Synonymous SNV F11F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.06 257411 chr7 100680137 100680137 C T rs73712042 MUC17 Nonsynonymous SNV P1814S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 257412 chr7 103194245 103194245 A C rs77664442 RELN Nonsynonymous SNV F1944C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.3 257413 chr7 104752473 104752473 T C rs35605511 KMT2E Nonsynonymous SNV S1424P 0.001 0 0 0 1 0 0 0 0 0 0 0 22 257414 chr7 105111219 105111219 T C rs112413140 PUS7 Synonymous SNV L444L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.948 257415 chr7 105182956 105182956 T C rs34064404 RINT1 Synonymous SNV T47T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.704 257416 chr7 107746313 107746313 T C rs35265257 LAMB4 Synonymous SNV E273E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.579 257417 chr7 107790417 107790417 C T rs74708699 NRCAM Nonsynonymous SNV A1148T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.92 257418 chr7 110526714 110526714 G A rs34279428 IMMP2L Nonsynonymous SNV R115C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.4 257419 chr19 56552321 56552321 C T rs34310724 NLRP5 Synonymous SNV C940C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.783 257420 chr7 111409621 111409621 C A rs140115413 DOCK4 Synonymous SNV L1255L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.59 257421 chr7 115596800 115596800 T G rs114719187 TFEC Synonymous SNV S38S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.555 257422 chr9 35906348 35906350 CTG - rs370606246 HRCT1 L28del 0 0 0 1 0 0 0.003 0 0 0 0 0 257423 chr7 122261747 122261747 C T rs17144625 CADPS2 Nonsynonymous SNV A298T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.11 257424 chr7 123672877 123672877 C A TMEM229A Nonsynonymous SNV G61W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 257425 chr7 126410002 126410002 G T rs376815449 GRM8 Nonsynonymous SNV P220H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 257426 chr7 127224452 127224452 T C rs35390108 GCC1 Nonsynonymous SNV Q262R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 257427 chr7 128483927 128483927 G A rs191892345 FLNC Synonymous SNV P963P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.757 257428 chr7 128587378 128587378 G A rs202130620 IRF5 Synonymous SNV P176P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.719 257429 chr7 128615897 128615897 C A rs35060568 TNPO3 Synonymous SNV R654R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.11 257430 chr7 128766842 128766842 A G rs574425742 LOC407835 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 257431 chr19 5790120 5790120 C T rs201303761 DUS3L Nonsynonymous SNV G109S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.555 257432 chr19 58232389 58232389 G T rs187170699 ZNF671 Synonymous SNV G257G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.134 257433 chr7 130007251 130007251 C G rs147989332 CPA5 Nonsynonymous SNV H293D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 257434 chr7 131194329 131194329 G A rs147379975 PODXL Nonsynonymous SNV S241L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.869 257435 chr7 135277928 135277928 C T rs78913303 NUP205 Synonymous SNV T248T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.94 257436 chr7 137590543 137590543 G A rs112720042 CREB3L2 Synonymous SNV L211L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 257437 chr19 7533921 7533921 G A rs750252341 ARHGEF18 Nonsynonymous SNV V989M 0.003 0 0 0 4 0 0 0 0 0 0 0 33 257438 chr9 100388134 100388134 A C rs754744850 TSTD2 Nonsynonymous SNV I104S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 257439 chr19 58863897 58863897 G A rs375725715 A1BG Nonsynonymous SNV S122L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 257440 chr7 142562404 142562404 C T rs61732976 EPHB6 Synonymous SNV P282P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.099 257441 chr9 104302577 104302577 G C rs747473264 RNF20 Nonsynonymous SNV E74D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.502 257442 chr7 149129893 149129893 C G rs75104198 ZNF777 Synonymous SNV P490P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 257443 chr7 149509411 149509411 G C rs373849668 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 257444 chr9 113538148 113538148 A G MUSK Nonsynonymous SNV Y10C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 257445 chr9 114145509 114145509 G A rs201155225 ECPAS Nonsynonymous SNV T1262M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 257446 chr7 149518967 149518967 G A rs144061030 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 257447 chr7 149521613 149521613 C G rs112967723 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 0.717 257448 chr7 149522406 149522406 G A rs146470834 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 257449 chr9 114202699 114202699 C A rs181893532 ECPAS Synonymous SNV V164V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 257450 chr7 149522447 149522447 C T rs74947124 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 18.59 257451 chr7 149524875 149524875 C T rs371976934 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 257452 chr7 150325493 150325493 C T rs17173519 GIMAP6 Nonsynonymous SNV V135I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.47 257453 chr7 150831640 150831640 C T rs6979425 AGAP3 Synonymous SNV L266L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 257454 chr7 151135063 151135063 G A rs75533911 CRYGN Stop gain R97X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.753 257455 chr7 155592835 155592835 C T rs148863769 SHH Nonsynonymous SNV G136R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.217 257456 chr7 156468481 156468481 G A rs79950079 RNF32 Nonsynonymous SNV R259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 257457 chr8 2092707 2092707 C T rs35586881 MYOM2 Synonymous SNV Y1400Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 257458 chr8 2823326 2823326 C G rs61744049 CSMD1 Nonsynonymous SNV R3084T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.084 257459 chr8 3047552 3047552 G A rs34652555 CSMD1 Synonymous SNV G1760G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.71 257460 chr8 6783420 6783420 G C rs116451664 DEFA6 Nonsynonymous SNV D46E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.327 257461 chr8 10468965 10468965 G A rs374382227 RP1L1 Synonymous SNV A881A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.631 257462 chr8 10469436 10469436 C T rs73662876 RP1L1 Synonymous SNV S724S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.62 257463 chr1 116280913 116280913 A C CASQ2 Nonsynonymous SNV V155G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 257464 chr8 13357331 13357331 C T rs35173269 DLC1 Nonsynonymous SNV D84N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.37 257465 chr8 19278027 19278027 G A rs36026721 CSGALNACT1 Nonsynonymous SNV A319V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 257466 chr8 19700414 19700414 C G rs35223390 INTS10 Synonymous SNV L337L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 257467 chr8 20036869 20036869 A G rs17215801 SLC18A1 Nonsynonymous SNV F84S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.78 257468 chr9 135271848 135271848 T A TTF1 Nonsynonymous SNV M95L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 257469 chr1 109472417 109472417 G A rs765367400 GPSM2 Nonsynonymous SNV R637Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 257470 chr1 109529264 109529264 G A rs752809133 WDR47 Synonymous SNV I610I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 257471 chr8 22267466 22267466 C T rs76369796 SLC39A14 Synonymous SNV G155G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 257472 chr8 23147416 23147416 G A rs6980542 R3HCC1 Nonsynonymous SNV A96T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 257473 chr1 11845244 11845244 T C rs188903818 C1orf167 Synonymous SNV G1155G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.864 257474 chr8 24167700 24167700 G A rs150620720 ADAM28 Synonymous SNV T84T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 257475 chr8 24359085 24359085 T C rs6980829 ADAM7 Nonsynonymous SNV L735P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 257476 chr8 25346133 25346133 A G rs115925873 CDCA2 Synonymous SNV K518K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.61 257477 chr8 27297847 27297847 G A PTK2B Nonsynonymous SNV R643Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 257478 chr8 27361200 27361200 A G rs146918355 EPHX2 Nonsynonymous SNV K23R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257479 chr8 27462722 27462722 G A rs191783558 CLU Nonsynonymous SNV A183V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 257480 chr8 27668587 27668587 C G rs17057901 PBK Nonsynonymous SNV E231D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.19 257481 chr1 1277456 1277456 G A rs748347919 DVL1 Nonsynonymous SNV A148V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.801 257482 chr8 27898694 27898694 C T rs17058503 NUGGC Synonymous SNV A495A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 257483 chr8 27918050 27918050 G T rs79383779 NUGGC Nonsynonymous SNV H330Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 257484 chr1 13840030 13840044 AGCAGAAGGCTGCAG - LRRC38 C16_L20del 0.001 0 0 0 1 0 0 0 0 0 0 0 257485 chr1 150912436 150912436 C T rs751125292 SETDB1 Nonsynonymous SNV P145S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 257486 chr8 27925744 27925744 G A rs114499791 NUGGC Synonymous SNV L157L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.183 257487 chr8 28321153 28321153 A G rs7822086 FBXO16 Synonymous SNV P94P 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 1 7.426 257488 chr8 28321174 28321174 G A rs7837853 FBXO16 Synonymous SNV Y87Y 0.002 0.003 0.007 4 2 1 0.01 2 0 0 0 1 6.526 257489 chr8 28950280 28950280 C T rs17059670 KIF13B Synonymous SNV P1480P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.76 257490 chr8 30703066 30703066 G A rs61736164 TEX15 Synonymous SNV S1539S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.59 257491 chr1 152081343 152081343 C G rs768126020 TCHH Nonsynonymous SNV E1450D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 257492 chr8 32621631 32621631 G A rs73672606 NRG1 Nonsynonymous SNV R388Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 257493 chr8 33361350 33361350 C T rs116342278 TTI2 Nonsynonymous SNV R313Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.84 257494 chr8 33367375 33367375 C T rs114120191 TTI2 Synonymous SNV L241L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.55 257495 chr9 139581707 139581707 C T rs138811198 AGPAT2 Nonsynonymous SNV A35T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 257496 chr8 37699298 37699298 G C ADGRA2 Nonsynonymous SNV E1148Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.543 257497 chr8 37699808 37699808 G A rs150771131 ADGRA2 Nonsynonymous SNV G1318S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 257498 chr8 37996388 37996388 C T rs111864953 ASH2L Nonsynonymous SNV R465C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 257499 chr1 151262420 151262420 G C rs199686732 ZNF687 Synonymous SNV L967L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.256 257500 chr8 38879190 38879190 C T rs113649109 ADAM9 Nonsynonymous SNV A234V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 257501 chr8 38899552 38899552 A G rs35438678 ADAM9 Synonymous SNV P406P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 7.69 257502 chr8 39442183 39442183 G A rs111343122 ADAM18 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.307 257503 chr8 41573266 41573266 G A rs34387324 ANK1 Synonymous SNV A502A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.66 257504 chr8 42725178 42725178 C T rs11989986 RNF170 Synonymous SNV P97P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.281 257505 chr8 42939934 42939934 C A rs2230266 FNTA Synonymous SNV P309P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.77 257506 chr8 42977869 42977869 T C rs33920561 POMK Nonsynonymous SNV M301T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.7 257507 chr8 43037325 43037325 G A HGSNAT Synonymous SNV Q286Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.461 257508 chr8 43152470 43152470 A G rs181221204 POTEA Synonymous SNV L152L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.621 257509 chr1 152636669 152636669 C A rs150498841 LCE2D Nonsynonymous SNV P30T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.955 257510 chr8 48173561 48173561 G A SPIDR Nonsynonymous SNV G4D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 257511 chr8 49985395 49985395 A C rs6980664 PPDPFL Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 257512 chr1 154960970 154960970 C T FLAD1 Synonymous SNV F254F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 257513 chr8 53540695 53540695 T C rs16918013 RB1CC1 Synonymous SNV L1511L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.18 257514 chr8 53569194 53569194 C T rs16918075 RB1CC1 Synonymous SNV A1065A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.25 257515 chr8 57358535 57358535 C G rs2078280 LOC101929415 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.301 257516 chr8 59343215 59343215 A C rs182035809 UBXN2B Nonsynonymous SNV D109A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 257517 chr8 59502029 59502029 C T rs2229740 NSMAF Synonymous SNV S762S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 257518 chr8 59512321 59512321 G C rs140579437 NSMAF Nonsynonymous SNV P512A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 257519 chr8 61134905 61134905 C T rs140586465 CA8 Nonsynonymous SNV M250I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.959 257520 chr8 67341996 67341996 C G rs34322476 RRS1 Synonymous SNV T210T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.12 257521 chr1 155161703 155161762 TGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCTGGCTTGT - MUC1 N124_D143del 0.001 0 0 0 1 0 0 0 0 0 0 0 257522 chr8 68981359 68981359 C T rs111417126 PREX2 Synonymous SNV D477D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.03 257523 chr8 70964498 70964498 C T rs77167289 PRDM14 Synonymous SNV Q510Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 257524 chr1 156531701 156531701 G A rs370129300 IQGAP3 Stop gain R324X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 257525 chr1 155735887 155735887 T G rs141121842 GON4L Nonsynonymous SNV K1126T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 257526 chr8 72267083 72267083 G C rs1445404 EYA1 Nonsynonymous SNV P20A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.6 257527 chr8 72967646 72967646 A - rs376155974 MSC-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 257528 chr8 72969228 72969228 T A rs61736313 TRPA1 Nonsynonymous SNV N373I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 257529 chr1 155932847 155932847 G A rs147593376 ARHGEF2 Synonymous SNV D284D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.11 257530 chr8 73117580 73117580 A G rs188132198 LOC392232 0.001 0 0 0 1 0 0 0 0 0 0 0 7.218 257531 chr8 73849560 73849560 A G rs16938507 KCNB2 Nonsynonymous SNV E657G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.42 257532 chr8 73921406 73921406 C T rs56288812 TERF1 Synonymous SNV S95S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 257533 chr1 151011441 151011441 C G BNIPL Nonsynonymous SNV D42E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.02 257534 chr8 73984020 73984020 A G rs145697494 SBSPON Synonymous SNV D165D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.122 257535 chr1 151824852 151824852 C G rs769920143 THEM5 Synonymous SNV L69L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.8 257536 chr8 77775671 77775671 A G rs200366146 ZFHX4 Nonsynonymous SNV I3241V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.009 257537 chr8 80831239 80831239 C T rs147631923 MRPS28 Synonymous SNV S180S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.995 257538 chr8 86044067 86044067 A C rs6985225 LRRCC1 Nonsynonymous SNV K234N 0.003 0 0 0 4 0 0 0 0 0 0 0 23.1 257539 chr8 86245776 86245776 G A rs7821248 CA1 Nonsynonymous SNV A30V 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 23.7 257540 chr8 87060793 87060793 T A rs28483271 PSKH2 Synonymous SNV G352G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 257541 chr8 87641230 87641230 A G rs35010099 CNGB3 Nonsynonymous SNV M466T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.6 257542 chr8 87683311 87683311 C A rs75858066 CNGB3 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.63 257543 chr8 88296995 88296995 T C rs116521057 CNBD1 Synonymous SNV D287D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 257544 chr8 90937198 90937198 G C rs35599414 OSGIN2 Nonsynonymous SNV C363S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.45 257545 chr8 92032402 92032402 T C rs143081863 PIP4P2 Synonymous SNV G115G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.646 257546 chr8 95172383 95172383 T C rs147833454 CDH17 Nonsynonymous SNV N456S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.666 257547 chr8 99146800 99146800 - A rs769812078 POP1 Frameshift insertion T309Nfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 257548 chr1 158913694 158913694 C T rs143484340 PYHIN1 Stop gain R373X 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 257549 chr8 105479130 105479130 G C rs57732538 DPYS Nonsynonymous SNV L7V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.56 257550 chr8 105503324 105503324 C T rs35657080 LRP12 Synonymous SNV V700V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.828 257551 chr8 110431356 110431356 T A rs74937681 PKHD1L1 Nonsynonymous SNV D797E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 257552 chr8 113275878 113275878 C T rs16883323 CSMD3 Synonymous SNV P3084P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.32 257553 chr8 113277717 113277717 G A rs144899938 CSMD3 Nonsynonymous SNV T3004M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.621 257554 chr8 113563027 113563027 A C rs141130465 CSMD3 Nonsynonymous SNV D1349E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.277 257555 chr8 113563045 113563045 G A rs150159258 CSMD3 Synonymous SNV D1343D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Benign 9.339 257556 chr8 117869629 117869629 A T rs778115340 RAD21 Nonsynonymous SNV S189T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 257557 chr8 117950738 117950738 G A rs187578345 AARD Nonsynonymous SNV A86T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 257558 chr8 117950739 117950739 C A rs369425409 AARD Nonsynonymous SNV A86E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 257559 chr1 16273507 16273507 G A rs138897393 ZBTB17 Nonsynonymous SNV R17W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 257560 chr8 120608229 120608229 C T rs145333587 ENPP2 Nonsynonymous SNV G329D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 257561 chr8 131181271 131181271 C T rs113163415 ASAP1 Synonymous SNV Q263Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.17 257562 chr1 167849416 167849416 C T rs148550451 ADCY10 Nonsynonymous SNV G232S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 257563 chr8 139736885 139736885 C T rs75753265 COL22A1 Synonymous SNV P740P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 257564 chr1 17331945 17331945 C G rs373607247 ATP13A2 Nonsynonymous SNV W71S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 257565 chr8 142222329 142222329 C G rs150117417 SLC45A4 Nonsynonymous SNV E705D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.443 257566 chr8 142228545 142228545 G A rs144230271 SLC45A4 Synonymous SNV Y347Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 257567 chr8 142228923 142228923 C T rs144566162 SLC45A4 Synonymous SNV L221L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.399 257568 chr8 143694991 143694991 G A rs78238991 ARC Synonymous SNV F214F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.064 257569 chr8 143845965 143845965 C T rs587603603 SLURP2 Synonymous SNV A66A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.635 257570 chr1 179961274 179961274 A T CEP350 Nonsynonymous SNV S105C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 257571 chr8 144663287 144663287 C T rs115462529 EEF1D Synonymous SNV E85E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 257572 chr8 144696960 144696960 G C rs7000400 TSTA3 Synonymous SNV T135T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.835 257573 chr8 144733119 144733119 G A rs61744877 ZNF623 Synonymous SNV T359T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.03 257574 chr8 144776336 144776336 G A rs782750859 ZNF707 Nonsynonymous SNV R215H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 257575 chr8 144789840 144789840 T C rs148375268 CCDC166 Nonsynonymous SNV Y147C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 257576 chr1 172501629 172501629 C T rs776319805 SUCO Nonsynonymous SNV A6V 0.006 0 0 0 7 0 0 0 0 0 0 0 7.823 257577 chr8 144998496 144998496 C G rs782704236 PLEC Synonymous SNV R1853R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.555 257578 chr8 144998781 144998781 C T rs62642466 PLEC Synonymous SNV A1758A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.36 257579 chr1 186313522 186313522 T C rs200011256 TPR Synonymous SNV R1134R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.58 257580 chr1 19166169 19166169 A G TAS1R2 Nonsynonymous SNV I815T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 257581 chr8 145235403 145235403 C T rs145624802 MROH1 Nonsynonymous SNV T180M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 257582 chr8 145577521 145577521 G A rs114731957 TMEM249 Nonsynonymous SNV P117L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.109 257583 chr8 145649622 145649622 G A rs2928378 VPS28 Synonymous SNV R144R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.55 257584 chr8 145660237 145660237 C T rs34180657 TONSL Synonymous SNV P1014P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.79 257585 chr10 89623778 89623778 G A PTEN Synonymous SNV S24S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.85 257586 chr8 145692363 145692363 G A rs35817880 KIFC2 Nonsynonymous SNV G67E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.11 257587 chr8 145699642 145699642 C T rs7833404 FOXH1 Synonymous SNV L359L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 12.96 257588 chr8 146067482 146067482 A T rs143516383 ZNF7 Synonymous SNV G234G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.472 257589 chr8 146107641 146107641 C T rs61745633 ZNF250 Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 257590 chr9 422052 422052 C T rs77803650 DOCK8 Synonymous SNV N1286N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.06 257591 chr9 894156 894156 C T rs34946058 DMRT1 Synonymous SNV P103P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.88 257592 chr9 2807875 2807875 C T rs149140589 PUM3 Nonsynonymous SNV V585I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257593 chr9 3247951 3247951 C T rs2229356 RFX3 Synonymous SNV L683L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.516 257594 chr9 5164183 5164183 G A rs35192311 INSL6 Synonymous SNV P124P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.361 257595 chr9 5185460 5185460 G A rs62620190 INSL6 Nonsynonymous SNV A48V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 257596 chr9 5772730 5772730 G A rs10118116 RIC1 Synonymous SNV Q1224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.272 257597 chr9 5832926 5832926 T C ERMP1 Synonymous SNV R34R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 257598 chr9 8389343 8389343 A G rs75966719 PTPRD Synonymous SNV Y1018Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.725 257599 chr9 8471046 8471046 G A rs7865681 PTPRD Synonymous SNV R730R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.88 257600 chr9 14770699 14770699 C T rs114410606 FREM1 Nonsynonymous SNV V191M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.87 257601 chr1 196977644 196977644 T G rs141321678 CFHR5 Nonsynonymous SNV M514R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 257602 chr9 15453138 15453138 G A rs34346482 SNAPC3 Synonymous SNV L279L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 7.833 257603 chr1 204948538 204948538 A G rs756665245 NFASC Nonsynonymous SNV H687R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257604 chr9 17394852 17394852 G A rs61730197 CNTLN Synonymous SNV Q800Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.002 257605 chr1 205548881 205548881 T A rs114386987 MFSD4A Nonsynonymous SNV L78Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 257606 chr9 27949716 27949716 T C rs145831596 LINGO2 Synonymous SNV Q318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 257607 chr9 32467865 32467865 G A rs61757209 DDX58 Synonymous SNV L694L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.65 257608 chr9 32526057 32526057 A C DDX58 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 257609 chr9 32630282 32630282 T C rs61736667 TAF1L Nonsynonymous SNV I1766V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.679 257610 chr9 33332474 33332474 T G rs761099346 NFX1 Nonsynonymous SNV L670R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 257611 chr9 35376108 35376108 G A rs61732430 UNC13B Synonymous SNV T114T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.51 257612 chr9 35737518 35737518 G A rs898662253 GBA2 Synonymous SNV A863A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.496 257613 chr1 2130415 2130415 C T rs563284884 FAAP20 Nonsynonymous SNV E5K 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 5.281 257614 chr9 36651819 36651819 G A rs34655121 MELK Nonsynonymous SNV R202K 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 18.46 257615 chr9 71840248 71840248 C A rs147139671 TJP2 Synonymous SNV I331I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.1 257616 chr9 72741158 72741158 A G rs61998197 MAMDC2 Nonsynonymous SNV M243V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 257617 chr9 72895709 72895709 A C SMC5 Nonsynonymous SNV K238T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 257618 chr9 77377766 77377766 T C rs34608911 TRPM6 Nonsynonymous SNV Q1269R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.83 257619 chr9 77457144 77457144 T A rs145791687 TRPM6 Nonsynonymous SNV S85C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.2 257620 chr9 91972961 91972961 G A rs62638731 SECISBP2 Synonymous SNV A703A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.4 257621 chr9 95004508 95004508 G A IARS1 Synonymous SNV T1007T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.996 257622 chr9 95060161 95060161 C T rs200073122 NOL8 Nonsynonymous SNV R1116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 257623 chr9 96051554 96051554 C T rs572673635 WNK2 Synonymous SNV A1506A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.817 257624 chr9 96398721 96398721 C T rs142682904 PHF2 Synonymous SNV H71H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 257625 chr9 96428329 96428329 C T rs116444936 PHF2 Nonsynonymous SNV S725L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 257626 chr9 99521211 99521211 C T rs10119874 ZNF510 Nonsynonymous SNV G572E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 257627 chr9 99522706 99522706 G A rs61739197 ZNF510 Nonsynonymous SNV H74Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.351 257628 chr9 100364922 100364922 T C rs17853442 TSTD2 Synonymous SNV Q460Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.38 257629 chr9 100416169 100416169 A G rs114041785 NCBP1 Synonymous SNV Q13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 257630 chr9 103323728 103323728 C T rs78311168 MSANTD3-TMEFF1, TMEFF1 Synonymous SNV C349C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 257631 chr9 104449402 104449402 G T rs200276152 GRIN3A Nonsynonymous SNV N260K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 257632 chr9 107289352 107289352 T C rs61738891 OR13C4 Nonsynonymous SNV I47V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 257633 chr9 109687639 109687639 G A rs73522975 ZNF462 Synonymous SNV S482S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.31 257634 chr9 111625083 111625083 G C rs35995497 ACTL7A Nonsynonymous SNV A161P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 257635 chr1 228461211 228461211 G A rs758366925 OBSCN Synonymous SNV A2075A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.882 257636 chr1 23847406 23847406 T C rs201120779 E2F2 Nonsynonymous SNV R246G 0.002 0 0 0 2 0 0 0 0 0 0 0 24 257637 chr9 115931784 115931784 C A rs61748833 FKBP15 Nonsynonymous SNV A1069S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.674 257638 chr9 115956400 115956400 C T rs62636616 FKBP15 Nonsynonymous SNV R305H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 257639 chr9 117027235 117027235 G A rs140192759 COL27A1 Nonsynonymous SNV R1094Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.6 257640 chr1 2433865 2433865 G A rs539454703 PLCH2 Synonymous SNV A965A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.432 257641 chr9 117068826 117068826 G A rs1249762 COL27A1 Synonymous SNV V1655V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.83 257642 chr9 117103900 117103900 T C rs2787344 AKNA Nonsynonymous SNV Y1208C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 257643 chr9 117118245 117118245 T C rs61757559 AKNA Synonymous SNV A887A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.399 257644 chr9 117118379 117118379 C T rs61757558 AKNA Nonsynonymous SNV V843M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 257645 chr9 119739007 119739007 A G rs375283976 ASTN2 Nonsynonymous SNV V499A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 257646 chr11 1093274 1093274 - ACCACCACCACCACGGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCT MUC2 Stop gain T1699Pfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 257647 chr9 123744967 123744967 T C rs142341763 C5 Nonsynonymous SNV K1125R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 257648 chr9 123860696 123860696 A G rs143362843 CNTRL Synonymous SNV Q218Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.692 257649 chr9 124044618 124044618 G A rs76565388 GSN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.248 257650 chr9 125424164 125424164 C T rs111803762 OR1L1 Nonsynonymous SNV T57M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 257651 chr9 125437482 125437482 G A rs61100236 OR1L3 Nonsynonymous SNV R25K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.456 257652 chr9 125437820 125437820 C T rs61480152 OR1L3 Nonsynonymous SNV R138C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 257653 chr9 125438062 125438062 T C rs79304977 OR1L3 Synonymous SNV Y218Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 257654 chr9 125486938 125486938 G A rs142259290 OR1L4 Nonsynonymous SNV V224I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 257655 chr9 127074802 127074802 G A rs116276253 NEK6 Synonymous SNV T53T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 257656 chr9 127572550 127572550 G A rs35972823 OLFML2A Synonymous SNV T392T 0.002 0 0 0 2 0 0 0 1 0 0 0 9.921 257657 chr1 248263281 248263281 - CAAG OR2L13 Frameshift insertion L204Kfs*67 0.001 0 0 0 1 0 0 0 0 0 0 0 257658 chr9 127733950 127733950 C T SCAI Nonsynonymous SNV D525N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 257659 chr9 129453322 129453322 C A rs116316477 LMX1B Synonymous SNV S178S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.37 257660 chr9 129458161 129458161 G A rs112171815 LMX1B Synonymous SNV T321T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.7 257661 chr9 130580940 130580940 G A rs185549924 LOC102723566 0.001 0 0 0 1 0 0 0 0 0 0 0 1.478 257662 chr9 130690430 130690430 C A rs755698498 PIP5KL1 Nonsynonymous SNV E116D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 257663 chr9 130942732 130942732 A G rs141865614 CIZ1 Synonymous SNV P227P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.133 257664 chr9 131019486 131019486 T C rs79208885 GOLGA2 Nonsynonymous SNV N945D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.331 257665 chr9 131186783 131186783 C T rs61732491 CERCAM Nonsynonymous SNV A141V 0.002 0 0 0 2 0 0 0 1 0 0 0 8.479 257666 chr9 131186856 131186856 C T rs34878035 CERCAM Synonymous SNV D165D 0.002 0 0 0 2 0 0 0 1 0 0 0 14 257667 chr9 131191041 131191041 G A rs11554802 CERCAM Nonsynonymous SNV G220S 0.002 0 0 0 2 0 0 0 1 0 0 0 24.9 257668 chr1 25785110 25785110 A G MACO1 Nonsynonymous SNV N294S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.24 257669 chr9 131467729 131467729 C T rs548837083 PKN3 Nonsynonymous SNV R58W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 257670 chr9 131484055 131484055 G A rs114361621 ZDHHC12 Synonymous SNV C174C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 257671 chr9 136217711 136217711 T C rs781967358 SNORD36C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 257672 chr9 136320602 136320602 C T rs141494468 ADAMTS13 Nonsynonymous SNV R1149W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.6 257673 chr9 136507375 136507375 G A rs76819676 DBH Nonsynonymous SNV R178Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.487 257674 chr9 138556088 138556088 C T rs780893640 LCN9 Synonymous SNV F59F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 257675 chr9 138713975 138713975 C T rs35871460 CAMSAP1 Synonymous SNV A844A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 257676 chr9 138837003 138837003 G A rs28757690 UBAC1 Synonymous SNV A249A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.838 257677 chr9 139264827 139264827 C T rs115057256 CARD9 Synonymous SNV A290A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.405 257678 chr9 139342047 139342047 G A rs199835518 SEC16A Nonsynonymous SNV P2178L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 257679 chr1 40874411 40874411 G A rs141827976 SMAP2 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.7 257680 chr1 46977907 46977907 C T rs138584907 DMBX1 Nonsynonymous SNV A297V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 257681 chr1 35370939 35370939 G A DLGAP3 Nonsynonymous SNV R16C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 257682 chr1 36226734 36226734 G A rs115825841 CLSPN Nonsynonymous SNV R323W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 257683 chr9 139910772 139910772 G A rs73564312 ABCA2 Synonymous SNV G1025G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.418 257684 chr9 139915148 139915148 G A rs73564322 ABCA2 Synonymous SNV N421N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.89 257685 chr9 139927624 139927624 C T rs79892804 C9orf139 Nonsynonymous SNV R37W 0.001 0 0 0 1 0 0 0 0 0 0 0 8.354 257686 chr9 139990825 139990825 C T rs73569515 MAN1B1 Nonsynonymous SNV P201L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.862 257687 chr9 139994211 139994211 G A rs114057640 MAN1B1 Nonsynonymous SNV R265H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 257688 chr1 46512266 46512266 G A rs34168524 LOC110117498-PIK3R3, PIK3R3 Nonsynonymous SNV R169C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 257689 chr10 255922 255922 A G rs138135446 ZMYND11 Synonymous SNV T70T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.704 257690 chr10 323367 323367 G A rs140375826 DIP2C Synonymous SNV G1523G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 257691 chr10 1262935 1262935 C A rs142381078 ADARB2 Synonymous SNV L546L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 257692 chr11 12923612 12923612 A G TEAD1 Synonymous SNV E275E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.848 257693 chr11 17098753 17098753 T G rs752567885 RPS13 Nonsynonymous SNV Y38S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 257694 chr1 57341737 57341737 C T rs139141074 C8A Nonsynonymous SNV R107C 0.004 0.003 0 1 5 1 0.003 0 0 0 0 0 35 257695 chr11 17378440 17378440 G A NCR3LG1 Nonsynonymous SNV A105T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 257696 chr10 5781711 5781711 C T rs375225511 TASOR2 Synonymous SNV I445I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 257697 chr1 60505839 60505839 C A rs964767206 C1orf87 Nonsynonymous SNV S166I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.8 257698 chr1 5933336 5933336 G A rs543488908 NPHP4 Synonymous SNV S585S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.172 257699 chr10 15115162 15115162 G C rs35647166 OLAH Synonymous SNV A244A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.734 257700 chr10 15138572 15138572 C T rs142637967 RPP38-DT 0.001 0 0 0 1 0 0 0 0 0 0 0 6.039 257701 chr10 15183463 15183463 C T rs75191203 NMT2 Nonsynonymous SNV R41Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.915 257702 chr10 15255835 15255835 C T rs3814167 FAM171A1 Synonymous SNV P584P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 257703 chr10 15628603 15628603 T C rs9333179 ITGA8 Synonymous SNV V769V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.079 257704 chr10 18280113 18280113 T C rs11011935 SLC39A12 Nonsynonymous SNV F301L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.36 257705 chr1 55273652 55273652 T G rs148177060 LEXM Nonsynonymous SNV S150A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 257706 chr1 70710389 70710389 C T SRSF11 Nonsynonymous SNV R275W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 257707 chr10 23270386 23270386 A G rs16922864 ARMC3 Nonsynonymous SNV E82G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 257708 chr10 23408274 23408274 T C rs141332961 MSRB2 Nonsynonymous SNV F113S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 257709 chr10 23481728 23481728 G C rs535090775 PTF1A Nonsynonymous SNV G90A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.127 257710 chr1 61872392 61872392 G A rs146012018 NFIA Synonymous SNV T471T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.89 257711 chr10 23578885 23578885 C A rs116326087 C10orf67 Nonsynonymous SNV D286Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 257712 chr11 44959162 44959162 G T rs150843358 TP53I11 Synonymous SNV I44I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.15 257713 chr11 46397114 46397114 G A rs776203000 DGKZ Nonsynonymous SNV A592T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.2 257714 chr10 27368038 27368038 C T rs61730101 ANKRD26 Nonsynonymous SNV D265N 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 23.3 257715 chr11 47433581 47433581 G A rs141246142 SLC39A13 Nonsynonymous SNV A136T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 6.865 257716 chr10 30747087 30747087 G A rs114464695 MAP3K8 Synonymous SNV T316T 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 12.62 257717 chr1 914582 914582 C T rs556313468 PERM1 Nonsynonymous SNV V610I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.34 257718 chr10 34806052 34806052 G A rs112281243 PARD3 Synonymous SNV H86H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.03 257719 chr10 44141519 44141519 C T rs114834062 ZNF32 Synonymous SNV A21A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.53 257720 chr10 48388631 48388631 G A rs34691259 RBP3 Synonymous SNV D749D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.263 257721 chr1 9323759 9323759 G A rs377461550 H6PD Nonsynonymous SNV G414S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 257722 chr10 50085174 50085174 A G rs370471979 WDFY4 Nonsynonymous SNV H2366R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 257723 chr10 50122094 50122094 T C rs139722198 LRRC18 Nonsynonymous SNV K36R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 257724 chr10 50227803 50227803 T C VSTM4 Synonymous SNV E285E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 257725 chr20 13756535 13756535 G T ESF1 Nonsynonymous SNV A340D 0.002 0 0 0 2 0 0 0 0 0 0 0 33 257726 chr10 50738818 50738818 C T rs1045189730 ERCC6 Nonsynonymous SNV S164N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.601 257727 chr10 50833669 50833669 T C rs113897064 CHAT Synonymous SNV P183P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.367 257728 chr10 50854561 50854561 C T rs61115650 CHAT Synonymous SNV N256N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.89 257729 chr10 50863180 50863180 C T rs7073028 CHAT Synonymous SNV S440S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.22 257730 chr10 60562868 60562868 C T rs150269030 BICC1 Synonymous SNV L683L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.83 257731 chr10 61022223 61022223 C G rs114156972 FAM13C Nonsynonymous SNV E403Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.247 257732 chr10 61087421 61087421 C T rs116673164 FAM13C Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.045 257733 chr10 64425913 64425913 C A rs74156086 ZNF365 Nonsynonymous SNV S169R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.4 257734 chr10 69695936 69695936 T G rs35472959 HERC4 Synonymous SNV A621A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 257735 chr10 69882038 69882038 A G rs74143022 MYPN Synonymous SNV P281P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.923 257736 chr10 69918324 69918324 G A rs74143030 MYPN Nonsynonymous SNV E467K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 20.8 257737 chr10 70191703 70191703 C T rs116704917 DNA2 Synonymous SNV A633A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 18.65 257738 chr10 70716026 70716026 C T rs79554134 DDX21 Synonymous SNV T15T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 257739 chr10 70775329 70775329 G A rs16926021 KIFBP Synonymous SNV Q341Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.444 257740 chr10 70863698 70863698 C T rs146830092 SRGN Nonsynonymous SNV S44F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 257741 chr10 71020898 71020898 C T rs35008643 HKDC1 Synonymous SNV Y740Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 257742 chr10 71124643 71124643 A G rs2228284 HK1 Synonymous SNV Q160Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.887 257743 chr10 71168759 71168759 G A rs137957562 TACR2 Synonymous SNV I220I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 257744 chr10 71868790 71868790 C T rs74139271 MACROH2A2 Synonymous SNV A260A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.814 257745 chr10 72503398 72503398 C T rs35133604 ADAMTS14 Synonymous SNV Y673Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 257746 chr10 73055714 73055714 C T rs142203538 UNC5B Synonymous SNV Y763Y 0.002 0 0 0 2 0 0 0 0 0 0 0 8.584 257747 chr10 74671476 74671476 C T rs61740612 OIT3 Synonymous SNV D223D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 257748 chr11 56431667 56431667 G A rs79043854 OR5AR1 Nonsynonymous SNV C169Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.8 257749 chr10 75035411 75035411 T C rs142337465 DNAJC9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.455 257750 chr10 75532651 75532651 C G rs113017272 FUT11 Nonsynonymous SNV T187S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.86 257751 chr10 75566462 75566462 G A rs140161241 NDST2 Nonsynonymous SNV R401C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 257752 chr10 76788299 76788299 C T rs147746065 KAT6B Synonymous SNV P458P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.62 257753 chr10 76855505 76855505 G A rs61737440 DUSP13 Synonymous SNV H124H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.839 257754 chr10 76865489 76865489 G A rs201867641 DUSP13 Stop gain R169X 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 257755 chr10 76865581 76865581 G A rs145460879 DUSP13 Nonsynonymous SNV T138M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 257756 chr20 3209798 3209798 A G rs759531557 SLC4A11 Nonsynonymous SNV M616T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 257757 chr10 79764621 79764621 G A rs79793998 POLR3A Synonymous SNV I700I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 16.05 257758 chr10 79769668 79769668 T A rs56214655 POLR3A Nonsynonymous SNV K575M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.3 257759 chr10 79785458 79785458 T G rs12248310 POLR3A Synonymous SNV L80L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.15 257760 chr10 79795367 79795367 T C rs57866839 RPS24 Synonymous SNV F56F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.326 257761 chr20 3274852 3274852 C T rs149733245 C20orf194 Nonsynonymous SNV R724Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.8 257762 chr10 81373728 81373728 C T rs1059058 SFTPA1 Synonymous SNV D202D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.07 257763 chr10 84718718 84718718 C G rs143338524 NRG3 Nonsynonymous SNV Q391E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 257764 chr10 84738781 84738781 G A rs139007511 NRG3 Synonymous SNV P496P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.129 257765 chr10 84745079 84745079 C T rs142452165 NRG3 Synonymous SNV N603N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.584 257766 chr10 85993956 85993956 G A rs61735486 LRIT1 Synonymous SNV L256L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.711 257767 chr10 87407067 87407067 G A rs150134091 GRID1 Synonymous SNV G695G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 257768 chr20 35526301 35526301 A C rs769234037 SAMHD1 Nonsynonymous SNV V522G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.106 257769 chr10 88476358 88476358 G A rs45579241 LDB3 Synonymous SNV P439P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.17 257770 chr10 88696857 88696857 G C rs36073867 MMRN2 Nonsynonymous SNV S831R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 257771 chr10 88854185 88854185 A G rs142544510 GLUD1 Synonymous SNV H114H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.64 257772 chr20 21321449 21321449 C G XRN2 Nonsynonymous SNV P535A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.916 257773 chr20 3363085 3363085 A G rs764887845 C20orf194 Nonsynonymous SNV L51P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 257774 chr10 93622748 93622748 G A rs78123770 TNKS2 Nonsynonymous SNV D1165N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.27 257775 chr10 94825901 94825901 C T rs187448183 CYP26C1 Synonymous SNV P350P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 257776 chr10 95163938 95163938 C T rs146468430 MYOF Synonymous SNV L256L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 257777 chr20 31496090 31496090 G A rs1036363872 EFCAB8 Nonsynonymous SNV V440M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.57 257778 chr10 99968652 99968652 A G rs35373035 R3HCC1L Nonsynonymous SNV S261G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 257779 chr10 102259333 102259333 C G rs11819496 SEC31B Nonsynonymous SNV R478T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 257780 chr10 102587359 102587359 G C rs778709515 PAX2 Nonsynonymous SNV A390P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 257781 chr10 102743543 102743543 G A rs138067900 MRPL43, SEMA4G Nonsynonymous SNV P166L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.211 257782 chr10 102743670 102743678 CCCCCACCG - rs773176617 SEMA4G P777_P779del 0.001 0 0 0 1 0 0 0 0 0 0 0 257783 chr10 102891556 102891556 - GGC rs773093460 TLX1 G90_A91insG 0.001 0 0 0 1 0 0 0 0 0 0 0 257784 chr10 104572921 104572921 C T rs769784246 WBP1L Nonsynonymous SNV H309Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.88 257785 chr10 113924331 113924331 G A rs73365184 GPAM Nonsynonymous SNV A420V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.73 257786 chr10 113926184 113926184 A G rs34047745 GPAM Synonymous SNV D399D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.44 257787 chr10 115343935 115343935 T C rs36039098 HABP2 Synonymous SNV G396G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.18 257788 chr10 115357730 115357730 C T rs35222761 NRAP Nonsynonymous SNV E1408K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 257789 chr10 115412708 115412708 G C rs35049661 NRAP Nonsynonymous SNV Q186E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.135 257790 chr10 115481471 115481471 C T rs2229998 CASP7 Synonymous SNV S78S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.169 257791 chr10 115485278 115485278 C T rs75516871 CASP7 Synonymous SNV P153P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 257792 chr10 115529555 115529555 T C rs141750023 PLEKHS1 Synonymous SNV L62L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 257793 chr10 115891864 115891864 C T rs141737793 CCDC186 Nonsynonymous SNV E579K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 257794 chr10 115987678 115987678 A G rs34112549 TDRD1 Nonsynonymous SNV Y1134C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.039 257795 chr10 116013459 116013459 C T rs62641661 VWA2 Synonymous SNV I34I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.09 257796 chr10 120921900 120921900 T C rs148808232 SFXN4 Synonymous SNV L68L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.215 257797 chr10 121586452 121586452 A G rs35914959 INPP5F Synonymous SNV S243S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.666 257798 chr10 122114615 122114615 C A rs568529073 RPL21 Nonsynonymous SNV L27F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.52 257799 chr10 122626199 122626199 C T rs41287986 WDR11 Synonymous SNV A371A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 19.36 257800 chr20 62190630 62190630 C T rs148963119 HELZ2 Nonsynonymous SNV R2071H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257801 chr10 124598536 124598536 T C rs140178574 CUZD1 Nonsynonymous SNV I149V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 257802 chr10 124742312 124742312 G A rs147919844 PSTK Nonsynonymous SNV V94I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 257803 chr10 125805271 125805271 T C rs79932850 CHST15 Nonsynonymous SNV K153R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.434 257804 chr10 126086607 126086607 A G rs201864147 OAT Synonymous SNV H301H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.695 257805 chr10 126631207 126631207 G A rs143568810 ZRANB1 Nonsynonymous SNV V49I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 257806 chr10 127429592 127429592 C T rs115707320 EDRF1 Synonymous SNV T697T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.88 257807 chr10 127431700 127431700 T A rs73379226 EDRF1 Synonymous SNV A781A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.12 257808 chr10 128192593 128192593 A T rs114071782 C10orf90 Synonymous SNV T392T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 257809 chr10 129913862 129913862 G A rs201621002 MKI67 Synonymous SNV Y270Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.439 257810 chr21 46058066 46058066 C T rs782447735 KRTAP10-10 Synonymous SNV C244C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.548 257811 chr21 28307011 28307011 C T rs138240355 ADAMTS5 Nonsynonymous SNV G488E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 257812 chr10 134748274 134748274 G A rs115050738 CFAP46 Nonsynonymous SNV P283L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 257813 chr20 62038364 62038364 G A rs774002673 KCNQ2 Nonsynonymous SNV S723L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 19.13 257814 chr10 135012202 135012202 C T rs34482209 KNDC1 Synonymous SNV D730D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.63 257815 chr11 218811 218811 G A rs73386658 SIRT3 Synonymous SNV D336D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.979 257816 chr11 407892 407892 C T rs373782732 SIGIRR Nonsynonymous SNV A136T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 257817 chr11 550080 550080 C T rs140852130 LRRC56 Synonymous SNV Y144Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.567 257818 chr11 611052 611052 C T rs371170378 PHRF1 Synonymous SNV Y1592Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 257819 chr11 615170 615170 C T rs146681075 IRF7 Nonsynonymous SNV R50H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.45 257820 chr11 112019410 112019410 C T rs45497197 IL18 Synonymous SNV Q88Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.751 257821 chr11 801258 801258 T C rs115365647 PIDD1 Synonymous SNV Q530Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.017 257822 chr11 850319 850319 C T rs143104251 TSPAN4 Synonymous SNV C5C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.36 257823 chr11 113857661 113857661 G A rs35815285 HTR3A Nonsynonymous SNV R376H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.9 257824 chr22 17601344 17601344 A G rs377534248 TMEM121B Nonsynonymous SNV L225P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 257825 chr11 1054328 1054330 TGA - rs144529714 LINC02688 0.001 0 0 0 1 0 0 0 0 0 0 0 257826 chr11 1087522 1087522 C T rs41421946 MUC2 Synonymous SNV F1091F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 257827 chr11 1095291 1095291 G A rs41426047 MUC2 Synonymous SNV T2037T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.16 257828 chr11 1857471 1857471 G A rs150418080 SYT8 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 257829 chr11 1973408 1973408 C T rs559934585 MRPL23 Synonymous SNV P64P 0.001 0 0 0 1 0 0 0 0 0 0 0 12 257830 chr22 24095278 24095278 C T rs143409128 VPREB3 Nonsynonymous SNV G53S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.181 257831 chr11 128426289 128426289 G A rs761017534 ETS1 Synonymous SNV N37N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.34 257832 chr11 2426259 2426259 C T rs79526258 TRPM5 Nonsynonymous SNV G1136S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.034 257833 chr11 2435333 2435333 G A rs75596446 TRPM5 Synonymous SNV T616T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.74 257834 chr11 133790185 133790185 A C rs201337434 IGSF9B Synonymous SNV P1145P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 257835 chr22 18613835 18613835 C T TUBA8 Synonymous SNV L362L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 257836 chr11 3111878 3111878 C T rs199552862 OSBPL5 Nonsynonymous SNV G702S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 257837 chr11 3123449 3123449 C T rs34235767 OSBPL5 Synonymous SNV P395P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.88 257838 chr11 3128517 3128517 C T OSBPL5 Synonymous SNV E277E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 257839 chr11 3239878 3239878 C T rs138911263 MRGPRG Nonsynonymous SNV A56T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 257840 chr11 3383015 3383015 G A rs7125523 ZNF195 Nonsynonymous SNV R111C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.501 257841 chr11 3661193 3661193 C T rs61746063 ART5 Nonsynonymous SNV E156K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.4 257842 chr11 3829529 3829529 T C rs183093939 PGAP2 Nonsynonymous SNV W49R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 257843 chr11 4661819 4661819 C A rs144444206 OR51D1 Nonsynonymous SNV P267T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 257844 chr11 4843254 4843254 T A rs7103540 OR51F2 Synonymous SNV G201G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.443 257845 chr11 4870162 4870162 C T rs148053298 OR51S1 Nonsynonymous SNV A93T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 257846 chr11 4904062 4904062 C T rs114936129 OR51T1 Synonymous SNV S311S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 257847 chr11 5020948 5020948 C T rs145827232 OR51L1 Nonsynonymous SNV H246Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 257848 chr11 5221424 5221424 G A rs7933718 OR51V1 Synonymous SNV I169I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.565 257849 chr11 5221754 5221754 C G rs61738413 OR51V1 Nonsynonymous SNV W59C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.52 257850 chr22 32009401 32009401 G C rs922056567 SFI1 Nonsynonymous SNV W821S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.675 257851 chr22 22869389 22869389 C A rs200056438 ZNF280A Nonsynonymous SNV G189V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.58 257852 chr11 5364097 5364097 G A rs7120319 OR51B5 Nonsynonymous SNV L220F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 257853 chr22 31495090 31495090 C T rs371060677 SMTN Synonymous SNV S848S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 257854 chr11 5410676 5410676 C A rs74788140 OR51M1 Nonsynonymous SNV N16K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 257855 chr12 6936152 6936152 C T rs201141145 GPR162 Nonsynonymous SNV P233L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 257856 chr11 5411028 5411028 C T rs74683499 OR51M1 Nonsynonymous SNV R134C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257857 chr11 5423879 5423879 T C rs143144299 OR51J1 Nonsynonymous SNV V18A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.057 257858 chr11 5424592 5424592 C T rs191728325 OR51J1 Nonsynonymous SNV P256S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 257859 chr11 5443685 5443685 G C rs142738618 OR51Q1 Nonsynonymous SNV Q85H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 257860 chr11 5444224 5444224 G A rs138734122 OR51Q1 Nonsynonymous SNV R265H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 257861 chr11 5474949 5474949 A G rs80243568 OR51I2 Synonymous SNV T77T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 257862 chr11 5475082 5475082 C T rs10450603 OR51I2 Nonsynonymous SNV R122C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 257863 chr11 5475641 5475641 A - rs79947333 OR51I2 H308Pfs*12 0.001 0.003 0 0 1 1 0 0 0 0 0 0 257864 chr11 5510346 5510346 C A rs111735812 OR52D1 Nonsynonymous SNV T137N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 257865 chr11 5566460 5566460 G A rs115541630 OR52H1 Synonymous SNV R98R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.311 257866 chr11 5602527 5602527 C T rs114791744 OR52B6 Nonsynonymous SNV R141C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 257867 chr11 5655036 5655036 G C rs61758097 TRIM34, TRIM6-TRIM34 Nonsynonymous SNV E142D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 257868 chr22 40807725 40807725 G A rs774072204 MRTFA Nonsynonymous SNV T822M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 257869 chr11 5699491 5699491 T C rs58187248 TRIM5 Synonymous SNV R229R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.069 257870 chr11 5809241 5809241 T C rs79632520 OR52N1 Nonsynonymous SNV H269R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.028 257871 chr11 5809724 5809724 G A rs76063365 OR52N1 Nonsynonymous SNV T108I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 257872 chr11 5842248 5842248 T C rs78496237 OR52N2 Nonsynonymous SNV M228T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.935 257873 chr11 5862619 5862619 A T rs7943698 OR52E6 Nonsynonymous SNV F170Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.91 257874 chr11 5878059 5878059 G A rs61059077 OR52E8 Nonsynonymous SNV L292F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 257875 chr11 6007679 6007679 C T rs61742092 OR52L1 Nonsynonymous SNV C161Y 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.003 257876 chr11 6007992 6007992 A G rs115266467 OR52L1 Synonymous SNV L57L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.005 257877 chr11 6238770 6238770 C T rs114090040 FAM160A2 Synonymous SNV E682E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.746 257878 chr11 6411936 6411953 GCTGGCGCTGGCGCTGGC - rs749512034 SMPD1 A44_L49del 0.001 0 0 0 1 0 0 0 0 0 0 0 257879 chr11 6413057 6413057 G A rs143939609 SMPD1 Synonymous SNV L254L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.518 257880 chr11 6540919 6540919 C T rs114704893 DNHD1 Synonymous SNV Y494Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.58 257881 chr11 6593198 6593198 C T rs7129801 DNHD1 Synonymous SNV C4748C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.59 257882 chr22 38055293 38055293 C T rs755460503 PDXP Synonymous SNV D168D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.144 257883 chr11 6942830 6942830 C T rs80298592 OR2D3 Nonsynonymous SNV L200F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 257884 chr11 7021572 7021572 C T rs75058643 ZNF214 Nonsynonymous SNV G448R 0.002 0 0 0 2 0 0 0 0 0 0 0 31 257885 chr12 16046986 16046986 A G rs767598118 STRAP Nonsynonymous SNV K137E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.4 257886 chr2 11593926 11593926 T C rs536590443 E2F6 0 0.003 0 0 0 1 0 0 0 0 0 0 16.68 257887 chr12 16135322 16135322 G A rs746455619 DERA Nonsynonymous SNV G197R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 257888 chr11 7690928 7690928 A G rs116007533 CYB5R2 Synonymous SNV N62N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.569 257889 chr11 7818448 7818448 C A rs150328465 OR5P2 Synonymous SNV G14G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.104 257890 chr11 8668016 8668016 T G rs61742770 TRIM66 Nonsynonymous SNV N167T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.6 257891 chr11 8933151 8933151 T C rs144370960 AKIP1 Nonsynonymous SNV L52P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 257892 chr11 9817415 9817415 T C rs79251068 SBF2 Synonymous SNV T1511T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.48 257893 chr11 10508888 10508888 C T rs76836360 AMPD3 Nonsynonymous SNV R147W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 257894 chr11 10582104 10582104 G A rs16907980 LYVE1 Nonsynonymous SNV T214I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.891 257895 chr11 10631309 10631309 G T rs116772600 MRVI1 Nonsynonymous SNV R198S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 257896 chr12 31633060 31633060 C G DENND5B Nonsynonymous SNV V123L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 257897 chr11 12231135 12231135 C T rs78053002 MICAL2 Synonymous SNV N227N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.53 257898 chr11 12246348 12246348 C T rs140261770 MICAL2 Nonsynonymous SNV R557C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 257899 chr11 17191016 17191016 A G rs61761999 PIK3C2A Synonymous SNV D91D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.213 257900 chr11 17351748 17351748 T C rs12292418 NUCB2 Synonymous SNV N329N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.647 257901 chr11 17388832 17388832 C A rs11024269 NCR3LG1 Nonsynonymous SNV A233E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257902 chr11 17393935 17393935 C T rs76394293 NCR3LG1 Nonsynonymous SNV S414L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 257903 chr11 17428639 17428639 C T rs58820146 ABCC8 Synonymous SNV S986S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.89 257904 chr11 17569050 17569050 G A rs111425080 OTOG Nonsynonymous SNV R44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.583 257905 chr11 17581082 17581082 T C rs73418062 OTOG Synonymous SNV T417T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.5 257906 chr22 46652833 46652833 A C PKDREJ Nonsynonymous SNV F2129L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.18 257907 chr11 18738330 18738330 G A rs76423295 IGSF22 Synonymous SNV G397G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 257908 chr11 19252375 19252375 C G rs77599073 E2F8 Nonsynonymous SNV S358T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.021 257909 chr2 106471720 106471720 C T rs35817451 NCK2 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 257910 chr11 26331237 26331237 T C rs11826876 ANO3 Nonsynonymous SNV V67A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 257911 chr11 27016265 27016265 C T rs35462253 FIBIN Synonymous SNV C64C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.86 257912 chr11 35211434 35211434 G A rs111287251 CD44 Synonymous SNV T163T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.527 257913 chr11 35218360 35218360 T C rs35911720 CD44 Synonymous SNV F245F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.05 257914 chr11 35327649 35327649 C T rs142563782 SLC1A2 Synonymous SNV L234L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.06 257915 chr11 44069883 44069883 G A rs77451436 ACCSL Synonymous SNV E99E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.771 257916 chr2 120979923 120979923 G A TMEM185B Synonymous SNV H210H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.641 257917 chr11 44148431 44148431 A G rs141977888 EXT2 Synonymous SNV L368L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.748 257918 chr11 44948263 44948263 C T rs34695714 TSPAN18 Synonymous SNV Y218Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.69 257919 chr2 128459632 128459643 TGGCCGCGCTGC - rs570661834 SFT2D3 L181_L184del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 257920 chr11 45992734 45992734 G A rs200842546 PHF21A Nonsynonymous SNV T182M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 257921 chr11 46896635 46896635 C T rs61733844 LRP4 Synonymous SNV S1315S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.52 257922 chr11 47296701 47296701 G A rs60183400 MADD Nonsynonymous SNV G217D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.6 257923 chr2 176987927 176987927 G C HOXD9 Nonsynonymous SNV G144A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.045 257924 chr11 47593061 47593061 C T rs61740549 PTPMT1 Nonsynonymous SNV R135C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 257925 chr2 135694497 135694497 T C CCNT2 Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.217 257926 chr11 48149352 48149352 G A rs2229703 PTPRJ Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257927 chr2 179404871 179404871 G A rs372825562 TTN Synonymous SNV R23609R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.33 257928 chr11 48238998 48238998 G A rs61731415 OR4B1 Nonsynonymous SNV V213M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 257929 chr2 179410768 179410768 G A rs753334568 TTN Nonsynonymous SNV P22667L 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 23.5 257930 chr11 48327794 48327794 T C rs114984079 OR4S1 Nonsynonymous SNV V7A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.64 257931 chr2 145161531 145161531 G A rs150853991 ZEB2 Synonymous SNV R229R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.332 257932 chr2 144903308 144903308 T C rs746650133 GTDC1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 257933 chr2 152417585 152417585 T C rs757621444 NEB Nonsynonymous SNV K4679R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 257934 chr11 48387656 48387656 T G rs533724202 OR4C5 Nonsynonymous SNV Q121P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 257935 chr11 48387855 48387855 T C rs556514578 OR4C5 Nonsynonymous SNV I55V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257936 chr2 133541035 133541035 T G NCKAP5 Nonsynonymous SNV S1117R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.29 257937 chr2 160043530 160043530 G A rs374465130 TANC1 Nonsynonymous SNV V712M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 257938 chr11 55111009 55111009 C T rs115773757 OR4A16 Synonymous SNV F111F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.948 257939 chr2 165552164 165552164 G A rs770489606 COBLL1 Nonsynonymous SNV H580Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 257940 chr12 58020616 58020616 G A B4GALNT1 Nonsynonymous SNV R450C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 257941 chr11 55322020 55322020 T C rs11828099 OR4C15 Nonsynonymous SNV F26L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 257942 chr11 55322233 55322233 A T rs115731336 OR4C15 Nonsynonymous SNV M97L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 257943 chr11 55322393 55322393 G A rs113104876 OR4C15 Nonsynonymous SNV G150E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 257944 chr11 55322538 55322538 G C OR4C15 Synonymous SNV V198V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 257945 chr11 55322611 55322635 TCTCTGAGAACACACAGTTCTGAAG - rs72140406 OR4C15 S223Gfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 257946 chr11 55322754 55322754 G A rs77547304 OR4C15 Synonymous SNV A270A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.599 257947 chr11 55339771 55339771 A - rs144335894 OR4C16 M57Cfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 257948 chr11 55339924 55339924 C T rs79740520 OR4C16 Synonymous SNV C107C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 257949 chr11 55406031 55406031 C G rs60079577 OR4P4 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.795 257950 chr11 55406562 55406562 T G rs57403436 OR4P4 Nonsynonymous SNV I243M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 257951 chr11 55418620 55418620 G A rs76435051 OR4S2 Nonsynonymous SNV V81I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.524 257952 chr11 55432930 55432930 C G rs61995737 OR4C6 Synonymous SNV L96L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.57 257953 chr11 55433102 55433102 G A rs77072313 OR4C6 Nonsynonymous SNV A154T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.6 257954 chr2 20453599 20453599 T C PUM2 Nonsynonymous SNV K937R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 257955 chr11 55594880 55594880 C T OR5L2 Synonymous SNV F62F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 257956 chr2 171822371 171822371 T C rs1042647500 GORASP2 Nonsynonymous SNV F296L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 257957 chr2 173349595 173349595 G A rs759525044 ITGA6 Synonymous SNV E545E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 257958 chr11 55944198 55944198 C T rs75301276 OR5J2 Synonymous SNV Y35Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.783 257959 chr2 165771711 165771711 C G rs749857957 SLC38A11 Nonsynonymous SNV R132P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 257960 chr2 166747360 166747360 C A TTC21B Nonsynonymous SNV G1030V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 257961 chr2 169923658 169923658 T C rs893044534 DHRS9 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 3.029 257962 chr2 173433489 173433489 A C PDK1 Nonsynonymous SNV I264L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 257963 chr11 56467897 56467897 A G rs143307936 OR9G1, OR9G9 Nonsynonymous SNV I12V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.321 257964 chr2 179444777 179444777 A G TTN Nonsynonymous SNV F13348L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.98 257965 chr11 57003581 57003581 C T rs7943508 APLNR Nonsynonymous SNV V300I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.43 257966 chr11 57078025 57078025 G A rs34921598 TNKS1BP1 Synonymous SNV L720L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 257967 chr11 57081262 57081262 G A rs76781175 TNKS1BP1 Synonymous SNV G300G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.861 257968 chr11 57087583 57087583 C T rs147890394 TNKS1BP1 Nonsynonymous SNV R233Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.248 257969 chr11 57101000 57101000 G C rs7932705 SSRP1 Synonymous SNV L85L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.604 257970 chr11 57313797 57313797 C T rs184907637 SMTNL1 Stop gain R389X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 257971 chr11 57581786 57581786 A C rs80355324 CTNND1 Nonsynonymous SNV K774T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.7 257972 chr11 57996289 57996289 G A rs112800197 OR10Q1 Nonsynonymous SNV A20V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.597 257973 chr11 59210837 59210837 C T rs78766309 OR5A1 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.769 257974 chr11 59224677 59224677 C T rs112998492 OR4D6 Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 257975 chr11 59271329 59271329 A T OR4D11 Nonsynonymous SNV Y94F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 257976 chr2 20403785 20403785 G A rs542463050 SDC1 Nonsynonymous SNV T139M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 257977 chr2 189449082 189449082 C T rs777577897 GULP1 Nonsynonymous SNV R131C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23 257978 chr11 60714276 60714276 G A rs114034576 SLC15A3 Synonymous SNV R192R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 257979 chr11 60777045 60777045 G A rs116020740 CD6 Synonymous SNV E261E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 257980 chr11 60889159 60889159 G A rs35979264 CD5 Synonymous SNV G237G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.948 257981 chr11 61981209 61981210 CG - rs761061939 SCGB2A1 Stop gain Y85* 0.001 0 0 0 1 0 0 0 0 0 0 0 257982 chr11 62294573 62294573 G A rs11824660 AHNAK Nonsynonymous SNV P2439L 0.002 0 0 0 2 0 0 0 1 0 0 0 27.1 257983 chr11 62299265 62299265 A G rs79183101 AHNAK Nonsynonymous SNV L875P 0.002 0 0 0 2 0 0 0 1 0 0 0 25.3 257984 chr11 62381009 62381009 G A rs139112694 ROM1 Nonsynonymous SNV A86T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 257985 chr11 62434227 62434227 G A rs76078023 CSKMT Nonsynonymous SNV A143T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 257986 chr11 62439530 62439530 T G rs143509965 UQCC3 Nonsynonymous SNV W76G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 19.95 257987 chr12 123497164 123497164 T C PITPNM2 Synonymous SNV T137T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.846 257988 chr2 21362175 21362175 A G rs199813541 TDRD15 Synonymous SNV A612A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.438 257989 chr11 63531519 63531519 - CTCCTCCTCCTCTGG C11orf95 E525_E526insPEEEE 0.001 0.003 0 0 1 1 0 0 0 0 0 0 257990 chr11 63964814 63964814 C T rs149149727 STIP1 Synonymous SNV Y295Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 257991 chr2 204304354 204304354 G A rs774194590 RAPH1 Nonsynonymous SNV R1187C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 257992 chr11 63967642 63967642 G C STIP1 Synonymous SNV G421G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 257993 chr11 64004924 64004924 G A rs138325963 VEGFB Nonsynonymous SNV R148H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 257994 chr11 64559429 64559429 C T rs140015876 MAP4K2 Nonsynonymous SNV V674I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 257995 chr11 64810523 64810523 G A rs547577995 SAC3D1 Nonsynonymous SNV E201K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.867 257996 chr11 65064706 65064706 G A rs7123885 POLA2 Nonsynonymous SNV S588N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 257997 chr11 65088687 65088687 C T rs35225270 CDC42EP2 Synonymous SNV N106N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.537 257998 chr11 65270091 65270092 TT - rs768170224 MALAT1, TALAM1 0.001 0 0 0 1 0 0 0 0 0 0 0 257999 chr11 65350558 65350558 G A rs184817605 EHBP1L1 Synonymous SNV E805E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.228 258000 chr11 65361145 65361145 G A rs142365879 KCNK7 Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.751 258001 chr11 65363063 65363063 C T rs78680181 KCNK7 Nonsynonymous SNV G61R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.035 258002 chr11 65385463 65385463 C G rs61741598 PCNX3 Synonymous SNV A210A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.385 258003 chr2 211300162 211300162 A T rs770241294 LANCL1 Nonsynonymous SNV Y358N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 258004 chr11 65413816 65413816 C T rs146280906 SIPA1 Nonsynonymous SNV A463V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.656 258005 chr11 65547094 65547094 C T rs1023066555 AP5B1 Synonymous SNV L290L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 258006 chr11 65562619 65562619 C G rs140325286 OVOL1 Nonsynonymous SNV A204G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 258007 chr11 65631132 65631132 C T rs145333207 MUS81 Nonsynonymous SNV R301C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 258008 chr11 65655539 65655539 C G rs34255955 FIBP Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.99 258009 chr11 65658722 65658722 C T rs75556285 CCDC85B Synonymous SNV G156G 0.002 0 0 0 2 0 0 0 1 0 0 0 14.35 258010 chr11 65793617 65793617 A C rs930842630 CATSPER1 Synonymous SNV S78S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 258011 chr11 66083044 66083044 G A rs74494297 CD248 Synonymous SNV I485I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.67 258012 chr11 66105148 66105148 C T rs370037659 BRMS1 Synonymous SNV P288P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.89 258013 chr11 66260191 66260191 C T rs17849480 DPP3 Synonymous SNV F301F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.94 258014 chr11 66331571 66331571 G A rs148155987 CTSF Synonymous SNV D456D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.083 258015 chr11 66333327 66333327 C T rs114727660 CTSF Synonymous SNV G313G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.93 258016 chr11 66335828 66335828 G A rs573483617 CTSF Nonsynonymous SNV R44C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 258017 chr11 66460058 66460058 G A rs146602750 SPTBN2 Synonymous SNV R1713R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.7 258018 chr11 66478115 66478115 A C rs34275473 SPTBN2 Synonymous SNV L337L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.558 258019 chr11 66483376 66483376 C T rs78309877 SPTBN2 Synonymous SNV V78V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.31 258020 chr11 66568548 66568548 T G rs114055882 C11orf80 Nonsynonymous SNV L108V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.168 258021 chr11 66617727 66617727 A G rs56705397 PC Synonymous SNV Y894Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 258022 chr11 66824400 66824400 G A rs199669171 RHOD Synonymous SNV E9E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.78 258023 chr11 67068542 67068542 C T rs371167553 ANKRD13D Synonymous SNV A385A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 258024 chr11 67186419 67186419 G A rs61743297 CARNS1 Nonsynonymous SNV G63D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 258025 chr11 67186420 67186420 C A rs61743296 CARNS1 Synonymous SNV G63G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.136 258026 chr11 67186613 67186613 C G rs61746685 CARNS1 Nonsynonymous SNV L128V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.662 258027 chr11 67266171 67266171 G A rs115377785 PITPNM1 Synonymous SNV F460F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 258028 chr11 67287391 67287391 G A rs114668091 CABP2 Synonymous SNV G176G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.38 258029 chr2 230643223 230643223 G A TRIP12 Nonsynonymous SNV H1419Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 258030 chr11 67413300 67413300 G A rs113375534 ACY3 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 258031 chr11 67434148 67434148 C T rs74761791 ALDH3B2 Synonymous SNV S16S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.713 258032 chr2 231112659 231112659 G A rs760138169 SP140 Synonymous SNV A231A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.968 258033 chr11 68177423 68177423 C T rs33958013 LRP5 Synonymous SNV H130H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.56 258034 chr11 70200527 70200527 G A rs149670968 PPFIA1 Nonsynonymous SNV V762I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 258035 chr11 70282502 70282502 G A rs765200388 CTTN Synonymous SNV P631P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.497 258036 chr11 71701751 71701751 A G rs34966470 RNF121 Synonymous SNV A173A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.31 258037 chr11 71717300 71717300 C T rs7949430 NUMA1 Nonsynonymous SNV V1811M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.75 258038 chr11 71719830 71719830 A G rs139169825 NUMA1 Nonsynonymous SNV L1693S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 258039 chr11 72295341 72295341 G C rs116776002 PDE2A Synonymous SNV A511A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 258040 chr11 72300231 72300231 C T rs116404146 PDE2A Synonymous SNV K302K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 258041 chr11 72406763 72406763 A G rs79040639 ARAP1 Synonymous SNV S834S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 258042 chr11 72422494 72422494 C T rs34976830 ARAP1 Nonsynonymous SNV R113Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 258043 chr11 72613606 72613606 C T rs76555174 FCHSD2 Synonymous SNV Q302Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 258044 chr11 72712037 72712037 T G rs77175727 FCHSD2 Synonymous SNV R129R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.1 258045 chr11 73007677 73007677 G A rs61745507 P2RY6 Synonymous SNV A139A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 258046 chr2 234717847 234717847 C T rs1016621631 MROH2A Nonsynonymous SNV H791Y 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 258047 chr11 73806285 73806285 A G rs79373272 C2CD3 Nonsynonymous SNV F1050L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.209 258048 chr11 74638474 74638474 T C rs61746073 XRRA1 Nonsynonymous SNV T154A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 258049 chr11 75173859 75173859 C T rs139229455 GDPD5 Nonsynonymous SNV V65I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 258050 chr11 76093142 76093142 G T rs74535839 GVQW3 Synonymous SNV V90V 0.002 0 0 0 2 0 0 0 1 0 0 0 9.603 258051 chr11 76795984 76795984 C T rs149132399 CAPN5 Nonsynonymous SNV R18W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.4 258052 chr11 77907961 77907961 G A rs75029334 USP35 Nonsynonymous SNV A224T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 258053 chr2 241468631 241468631 A G rs750079817 ANKMY1 Nonsynonymous SNV M170T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.994 258054 chr11 85435742 85435742 C T rs146372321 SYTL2 Synonymous SNV K1553K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 258055 chr2 241827952 241827952 C T MAB21L4 Synonymous SNV K336K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.423 258056 chr2 242008383 242008383 G T SNED1 Nonsynonymous SNV R1084S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 258057 chr2 238285819 238285819 C T rs111295967 COL6A3 Nonsynonymous SNV R282H 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Uncertain significance 16.88 258058 chr11 92495174 92495174 G A rs7108160 FAT3 Synonymous SNV P1274P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 10.33 258059 chr11 92538351 92538351 C T rs56843577 FAT3 Synonymous SNV L2977L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 14.92 258060 chr11 92538422 92538422 C T rs59542280 FAT3 Synonymous SNV L3000L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.21 258061 chr11 92616006 92616006 C T rs58474174 FAT3 Synonymous SNV Y4128Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.65 258062 chr11 92881895 92881895 C A rs142625181 SLC36A4 Synonymous SNV S306S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.82 258063 chr11 92901164 92901164 A G rs116186359 SLC36A4 Synonymous SNV L103L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.247 258064 chr2 25606738 25606749 CTTCCTCTGCAC - DTNB G401_E404del 0.001 0 0 0 1 0 0 0 0 0 0 0 258065 chr11 95826473 95826473 C T rs111958464 MAML2 Nonsynonymous SNV R241Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 258066 chr2 27461420 27461420 G A rs759512634 CAD Nonsynonymous SNV R1598Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 258067 chr11 103025296 103025296 G T rs201043335 DYNC2H1 Nonsynonymous SNV G1140V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.2 258068 chr2 30964773 30964773 C A CAPN13 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 258069 chr2 31570469 31570469 G A rs200293437 XDH Synonymous SNV S1065S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.085 258070 chr11 108056004 108056004 G A rs34021883 NPAT Synonymous SNV N287N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.103 258071 chr11 108122592 108122592 C G rs2227924 ATM Nonsynonymous SNV L546V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.24 258072 chr11 108127010 108127010 C T rs2229019 ATM Synonymous SNV Y731Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.924 258073 chr11 108138045 108138045 C T rs3218673 ATM Nonsynonymous SNV P872S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 7.493 258074 chr11 108139183 108139183 A G rs3218687 ATM Synonymous SNV L895L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.417 258075 chr11 108198391 108198391 T C rs4988111 ATM Nonsynonymous SNV L2332P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.88 258076 chr11 108302517 108302517 G C rs60205978 C11orf65 Nonsynonymous SNV Q44E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 258077 chr11 108381031 108381031 T A rs35717245 EXPH5 Nonsynonymous SNV I1547F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.821 258078 chr11 111431050 111431050 C T rs114394665 LAYN Nonsynonymous SNV S186L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.1 258079 chr11 112071336 112071336 G A rs17113607 BCO2 Nonsynonymous SNV G216E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.9 258080 chr11 112100934 112100934 T A PTS Nonsynonymous SNV V56E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 258081 chr11 113076804 113076804 G A rs35576001 NCAM1 Nonsynonymous SNV R177Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 258082 chr11 113210096 113210096 C T rs35609733 TTC12 Synonymous SNV A217A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 258083 chr2 45236043 45236043 G A rs780209481 SIX2 Synonymous SNV I69I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 258084 chr11 113813888 113813888 G C rs145795113 HTR3B Nonsynonymous SNV R283P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 258085 chr2 47202157 47202157 G A rs147471840 TTC7A Nonsynonymous SNV R188H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.1 258086 chr11 114310357 114310357 G A rs144263894 REXO2 Nonsynonymous SNV G36E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 258087 chr2 48132643 48132643 T A FBXO11 Nonsynonymous SNV N73Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 258088 chr11 117789435 117789449 GCTGGAGATGCCTGG - rs770318851 TMPRSS13 Q43_A47del 0.001 0 0 0 1 0 0 0 0 0 0 0 258089 chr14 24619473 24619473 G A RNF31 Nonsynonymous SNV G187D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 258090 chr11 118100634 118100634 T A rs7105729 MPZL3 Nonsynonymous SNV D216V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 258091 chr11 118133334 118133334 T C rs17122002 MPZL2 Synonymous SNV Q85Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.888 258092 chr11 118918682 118918682 G C rs138286788 HYOU1 Synonymous SNV L829L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.75 258093 chr11 118922603 118922603 C T rs75379910 HYOU1 Synonymous SNV Q422Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.86 258094 chr11 120348972 120348972 C G rs73584138 ARHGEF12 Nonsynonymous SNV Q1195E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 258095 chr11 121440903 121440903 C T rs114921128 SORL1 Synonymous SNV N1087N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.19 258096 chr11 123599897 123599897 G A rs11825443 ZNF202 Synonymous SNV D213D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 258097 chr2 61475705 61475705 C T rs201497693 USP34 Nonsynonymous SNV R2112H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 258098 chr11 123893858 123893858 A C rs139985259 OR10G9 Nonsynonymous SNV I47L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 258099 chr11 124007930 124007930 A G rs73607036 VWA5A Nonsynonymous SNV I612V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 258100 chr14 50069155 50069155 A G rs996000862 LRR1 Nonsynonymous SNV K84R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 258101 chr11 124742934 124742934 C T rs144055440 ROBO3 Synonymous SNV D495D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.26 258102 chr11 125786912 125786912 T G rs34015034 DDX25 Synonymous SNV A154A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.166 258103 chr11 125880492 125880492 C T rs11220313 CDON Synonymous SNV P432P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.29 258104 chr2 95756147 95756147 C T rs148691048 MRPS5 Nonsynonymous SNV R272H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.548 258105 chr2 96048202 96048202 G A rs138092705 KCNIP3 Synonymous SNV P185P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.001 258106 chr11 128781289 128781289 C T rs115012103 KCNJ5 Nonsynonymous SNV R41C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 33 258107 chr11 128842607 128842607 G A rs116064946 ARHGAP32 Nonsynonymous SNV S902F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 31 258108 chr11 130058498 130058498 C T rs62642512 ST14 Synonymous SNV Y105Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.32 258109 chr11 130068886 130068886 G A rs115956340 ST14 Nonsynonymous SNV G577R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.4 258110 chr2 97543662 97543662 G A rs151242835 FAM178B Nonsynonymous SNV R117C 0.003 0 0 2 4 0 0.005 0 0 0 0 0 26.4 258111 chr11 130332665 130332665 A G rs77956639 ADAMTS15 Nonsynonymous SNV N511S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 258112 chr2 97482101 97482101 G A rs545201213 CNNM3 Synonymous SNV P29P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.502 258113 chr11 134054876 134054876 T C rs138551616 NCAPD3 Nonsynonymous SNV N615D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 258114 chr11 134055323 134055323 G A rs144677005 NCAPD3 Nonsynonymous SNV S577L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 258115 chr3 108156400 108156400 C A rs754915159 MYH15 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 258116 chr12 1005809 1005809 T A WNK1 Nonsynonymous SNV N1804K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 258117 chr12 4758305 4758305 G C rs35155742 NDUFA9 Nonsynonymous SNV A5P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.63 258118 chr14 74441642 74441642 C A rs777311777 ENTPD5 Nonsynonymous SNV A257S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 258119 chr12 6103323 6103323 G T rs115914543 VWF Synonymous SNV G2101G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.297 258120 chr12 6219681 6219681 C T rs76505074 VWF Nonsynonymous SNV G131S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.33 258121 chr12 6422337 6422337 G A rs116760352 PLEKHG6 Synonymous SNV G9G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.195 258122 chr12 7028819 7028819 C T rs544138023 ENO2 Nonsynonymous SNV R253C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.1 258123 chr3 118866321 118866321 A T rs201518969 TEX55 Nonsynonymous SNV T429S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.584 258124 chr12 8902470 8902470 A G rs61999314 RIMKLB Nonsynonymous SNV N63S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.11 258125 chr3 121417736 121417736 G C rs201931896 GOLGB1 Nonsynonymous SNV A465G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.877 258126 chr3 122634300 122634300 C T SEMA5B Nonsynonymous SNV A601T 0.002 0 0 0 2 0 0 0 0 0 0 0 26 258127 chr12 10659275 10659275 T G rs143821403 EIF2S3B Synonymous SNV V258V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.567 258128 chr12 10959534 10959534 C A rs41324347 TAS2R8 Stop gain E16X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 258129 chr12 10962225 10962225 A T rs74954631 TAS2R9 Nonsynonymous SNV D150E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.009 258130 chr12 10978242 10978242 C T rs12307411 TAS2R10 Synonymous SNV S209S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.153 258131 chr12 12878963 12878963 G T rs7297629 APOLD1 Nonsynonymous SNV R10L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 258132 chr12 20874889 20874889 T G rs75171154 SLCO1C1 Nonsynonymous SNV N191K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.149 258133 chr12 21349999 21349999 C T SLCO1B1 Nonsynonymous SNV P283S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 258134 chr12 22040823 22040823 G A rs61001398 ABCC9 Synonymous SNV D616D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.65 258135 chr12 26383678 26383678 C T rs34055748 SSPN Nonsynonymous SNV T31M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.57 258136 chr3 136573567 136573567 C A rs756115147 SLC35G2 Nonsynonymous SNV Q89K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 258137 chr3 13612422 13612422 C T rs111296106 FBLN2 Synonymous SNV P189P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.106 258138 chr3 13670493 13670493 C A rs61731214 FBLN2 Nonsynonymous SNV N839K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 21.6 258139 chr12 28459769 28459769 A G rs143087318 CCDC91 Nonsynonymous SNV D121G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.04 258140 chr12 28515389 28515389 T C rs138853173 CCDC91 Synonymous SNV L37L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.264 258141 chr12 32136918 32136918 C A rs16919127 RESF1 Nonsynonymous SNV T1010K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.435 258142 chr3 14712527 14712527 A G rs911230768 CCDC174 Synonymous SNV A410A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.286 258143 chr12 32138725 32138725 A G rs16919139 RESF1 Synonymous SNV R1612R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.1 258144 chr12 32260379 32260379 G A rs62642547 BICD1 Synonymous SNV G38G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.5 258145 chr3 13612535 13612535 G A FBLN2 Nonsynonymous SNV G227D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.975 258146 chr12 42538257 42538295 GCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC - rs549907912 GXYLT1 G52_G64del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 258147 chr12 42860027 42860027 C T rs34778200 PRICKLE1 Synonymous SNV A248A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.61 258148 chr12 45823035 45823035 G C rs60329053 ANO6 Nonsynonymous SNV V892L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.668 258149 chr12 48134564 48134564 C T rs112035828 RAPGEF3 Nonsynonymous SNV D656N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 258150 chr15 33445994 33445994 C T rs751554215 FMN1 Synonymous SNV P374P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.9 258151 chr3 155203226 155203226 C T rs964648348 PLCH1 Nonsynonymous SNV V965I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.71 258152 chr12 49723000 49723000 C T rs2230551 TROAP Synonymous SNV P359P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.735 258153 chr12 49724155 49724155 C T rs17853062 TROAP Synonymous SNV C509C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 258154 chr12 49938086 49938086 C T rs150968851 KCNH3 Synonymous SNV L310L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.952 258155 chr12 49982264 49982264 C T rs147282399 FAM186B Nonsynonymous SNV R836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.372 258156 chr3 169514640 169514640 A G rs373594080 LRRC34 Synonymous SNV C235C 0.003 0 0 0 3 0 0 0 0 0 0 0 0.031 258157 chr12 50189399 50189399 C T rs146474776 NCKAP5L Synonymous SNV G748G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.98 258158 chr3 149238769 149238769 G A rs144765569 WWTR1 Synonymous SNV N342N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.05 258159 chr12 50749321 50749321 C T rs115407353 FAM186A Nonsynonymous SNV E432K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 258160 chr3 150931832 150931832 C A P2RY14 Synonymous SNV V91V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 258161 chr12 51771100 51771100 C T rs146029843 GALNT6 Synonymous SNV V181V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.13 258162 chr12 52100334 52100334 A G rs187115247 SCN8A Synonymous SNV E490E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.686 258163 chr3 182988432 182988432 C T rs151026623 B3GNT5 Synonymous SNV D282D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 258164 chr3 182987787 182987787 C T rs763720390 B3GNT5 Synonymous SNV T67T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.201 258165 chr12 52579242 52579242 G A rs114586587 KRT80 Nonsynonymous SNV R144C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 258166 chr3 183669326 183669326 G A rs576424898 ABCC5 Synonymous SNV D477D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 258167 chr12 52635346 52635346 G A rs116303953 KRT7 Nonsynonymous SNV A262T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.5 258168 chr12 52779332 52779332 C T rs145945103 KRT84 Nonsynonymous SNV R13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 258169 chr3 164777770 164777770 G A SI Stop gain Q356X 0.003 0 0 0 4 0 0 0 0 0 0 0 37 258170 chr12 52946582 52946582 G A rs371605959 KRT71 Nonsynonymous SNV P94S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.884 258171 chr12 52962038 52962038 C T rs57711382 KRT74 Nonsynonymous SNV E424K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 27.2 258172 chr12 52986273 52986273 G A rs12315878 KRT72 Synonymous SNV D235D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.622 258173 chr12 52995127 52995127 C T rs61747194 KRT72 Nonsynonymous SNV R37Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.37 258174 chr12 53004467 53004467 C T rs12303052 KRT73 Synonymous SNV L421L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 258175 chr12 53039073 53039073 G A rs2232562 KRT2 Synonymous SNV G550G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.079 258176 chr12 53085192 53085192 G A rs114430233 KRT77 Synonymous SNV G498G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 258177 chr12 53088474 53088474 C T rs77359838 KRT77 Nonsynonymous SNV R339Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 258178 chr12 53089565 53089565 T C rs62639689 KRT77 Synonymous SNV L302L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 258179 chr3 188124022 188124022 A G rs149742671 LPP Synonymous SNV T38T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.316 258180 chr3 193272447 193272447 G A ATP13A4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.783 258181 chr12 54332773 54332773 - CGG rs34115456 HOXC13 G38_T39insG 0.001 0 0 0 1 0 0 0 0 0 0 0 258182 chr12 55360191 55360191 T G rs139412167 TESPA1 Nonsynonymous SNV N110H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 258183 chr12 55524325 55524325 G T rs147309652 OR9K2 Nonsynonymous SNV G258V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 258184 chr12 55615006 55615006 G A rs114922387 OR10A7 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.087 258185 chr12 55820358 55820358 G A rs12322458 OR6C76 Synonymous SNV T107T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 258186 chr12 55820927 55820927 C T rs73327795 OR6C76 Nonsynonymous SNV A297V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 258187 chr12 55887054 55887054 C G rs56760228 OR6C68 Nonsynonymous SNV A298G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.69 258188 chr12 55968813 55968813 G T rs11171571 OR2AP1 Synonymous SNV L205L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 258189 chr12 56120523 56120523 G A rs13020 CD63 Synonymous SNV N129N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.417 258190 chr12 56234664 56234664 G A rs17844794 MMP19 Nonsynonymous SNV R103C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 258191 chr12 56349121 56349121 A G rs57990974 PMEL Nonsynonymous SNV V510A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.781 258192 chr12 56349325 56349325 G A rs148206928 PMEL Nonsynonymous SNV S476L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 258193 chr12 56349606 56349606 C T rs76045902 PMEL Nonsynonymous SNV G419S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.52 258194 chr12 56531040 56531040 G T rs61733171 ESYT1 Synonymous SNV T617T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.33 258195 chr3 188956653 188956653 G C rs770642820 TPRG1 Nonsynonymous SNV R145P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 258196 chr12 56755393 56755393 C G rs183126023 APOF Nonsynonymous SNV L199F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 258197 chr12 56817449 56817451 TCT - rs753763227 TIMELESS E677del 0.001 0 0 0 1 0 0 0 0 0 0 0 258198 chr12 57487364 57487364 C T rs375991040 NAB2 Nonsynonymous SNV A484V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 258199 chr15 65678318 65678318 T G rs939269750 IGDCC4 Nonsynonymous SNV S1011R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 258200 chr3 193130095 193130095 - T rs754612408 ATP13A4 Frameshift insertion M1027Nfs*4 0.002 0.005 0 0 2 2 0 0 0 0 0 0 258201 chr12 57572742 57572742 G A rs139292641 LRP1 Nonsynonymous SNV R1559Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 258202 chr12 57579435 57579435 C T rs2229281 LRP1 Synonymous SNV R2195R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.23 258203 chr12 57588323 57588323 C T rs139262076 MIR1228 0.001 0 0 0 1 0 0 0 0 0 0 0 1.074 258204 chr15 66793317 66793317 C T rs763214275 RPL4 Nonsynonymous SNV R268H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 258205 chr3 33416802 33416802 T C FBXL2 Nonsynonymous SNV V143A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 22.6 258206 chr12 58009799 58009799 C T rs114895142 ARHGEF25 Synonymous SNV N443N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.189 258207 chr12 58190142 58190142 G A rs114694283 TSFM Nonsynonymous SNV V252I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.438 258208 chr12 65153036 65153036 G C rs61743823 GNS Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.376 258209 chr12 65640027 65640027 G A rs17101179 LEMD3 Synonymous SNV K885K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.82 258210 chr12 65847572 65847572 T C rs34513088 MSRB3 Synonymous SNV Y126Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.004 258211 chr12 66712428 66712428 C T rs143522796 HELB Nonsynonymous SNV R671C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 258212 chr12 68696484 68696484 G A rs61740726 MDM1 Nonsynonymous SNV P350S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.273 258213 chr15 75111152 75111152 G A rs74025850 LMAN1L Synonymous SNV R197R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.595 258214 chr15 75116734 75116734 A G rs74025851 LMAN1L Nonsynonymous SNV R456G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.288 258215 chr15 75134478 75134478 C T rs34945944 ULK3 Nonsynonymous SNV R101H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 23.5 258216 chr3 9979297 9979297 C T rs565519299 CRELD1 Synonymous SNV F103F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.87 258217 chr12 75601632 75601632 G C rs77510785 KCNC2 Synonymous SNV G44G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.13 258218 chr12 80083663 80083663 G T rs377609790 PAWR Nonsynonymous SNV P121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 258219 chr3 32409390 32409390 C T rs200817216 CMTM8 Synonymous SNV F58F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 258220 chr12 81004356 81004356 G T rs146199719 PTPRQ Nonsynonymous SNV V1452L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 258221 chr12 81025971 81025971 G C rs145711051 PTPRQ Nonsynonymous SNV G1724A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.33 258222 chr12 83289885 83289885 G A rs1201791 TMTC2 Nonsynonymous SNV A70T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.56 258223 chr12 85521734 85521734 A C rs76349968 LRRIQ1 Nonsynonymous SNV T1378P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 258224 chr12 85547849 85547849 C T rs758802431 LRRIQ1 Nonsynonymous SNV S1566L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 258225 chr12 85623348 85623348 C A rs1395676 LRRIQ1 Synonymous SNV R1626R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.52 258226 chr12 85677389 85677389 A G rs75478848 ALX1 Nonsynonymous SNV H89R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.07 258227 chr3 38163833 38163833 A C rs139720262 DLEC1 Nonsynonymous SNV S1692R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.828 258228 chr12 92381359 92381359 C T rs114790865 LINC01619 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 258229 chr12 93100481 93100481 G T rs75859430 C12orf74 Nonsynonymous SNV R25M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 258230 chr3 38768212 38768212 G A rs138413438 SCN10A Nonsynonymous SNV P893L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 24.7 258231 chr12 94975531 94975531 C T rs145116010 TMCC3 Nonsynonymous SNV A257T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.071 258232 chr12 96948473 96948473 G A rs75218130 CFAP54 Nonsynonymous SNV G768E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.86 258233 chr12 100042146 100042146 G C rs35471478 FAM71C Nonsynonymous SNV R65P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.57 258234 chr3 40208683 40208683 C A rs141961787 MYRIP Nonsynonymous SNV H41N 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 258235 chr3 42226245 42226245 C G rs11544368 TRAK1 Synonymous SNV T70T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 258236 chr12 106461213 106461213 C T rs56353131 NUAK1 Synonymous SNV P451P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.738 258237 chr12 108051310 108051310 G A rs78068108 BTBD11 Nonsynonymous SNV A581T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 258238 chr12 108986017 108986017 G A rs73404789 TMEM119 Nonsynonymous SNV S48L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 258239 chr3 5243555 5243555 G A rs76196703 EDEM1 Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 258240 chr3 5252814 5252814 C T rs75905261 EDEM1 Synonymous SNV Y531Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 258241 chr3 50334568 50334568 G A rs199554290 NAA80 Synonymous SNV S109S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.593 258242 chr12 110841470 110841470 G A rs199792027 ANAPC7 Nonsynonymous SNV S22L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.074 258243 chr3 50334592 50334592 G A rs374560438 NAA80 Synonymous SNV F101F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.05 258244 chr12 112485511 112485511 T C NAA25 Nonsynonymous SNV N655S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 258245 chr3 52185080 52185080 G A rs778252554 POC1A Stop gain R19X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 258246 chr12 113384703 113384703 C A rs200894876 OAS3 Nonsynonymous SNV H264Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.528 258247 chr4 106158237 106158237 - A TET2 Frameshift insertion T1047Nfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 258248 chr12 113398921 113398921 G A rs199778647 OAS3 Nonsynonymous SNV R568K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 258249 chr12 113537764 113537764 C T rs78358273 RASAL1 Synonymous SNV G767G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.262 258250 chr3 64582623 64582623 T A rs768170215 ADAMTS9 Synonymous SNV V1326V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 258251 chr12 115109736 115109736 T C rs34831817 TBX3 Synonymous SNV K694K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.077 258252 chr12 117318899 117318899 G A rs12311393 HRK Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 258253 chr12 118577294 118577294 A G rs55716409 PEBP1 Nonsynonymous SNV N95S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.95 258254 chr3 74420527 74420527 T C CNTN3 Nonsynonymous SNV N160D 0.001 0 0 0 1 0 0 0 0 0 0 0 28 258255 chr12 118587866 118587866 G T rs115916534 TAOK3 Nonsynonymous SNV H414Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 258256 chr12 119624864 119624864 T C rs56323028 HSPB8 Synonymous SNV I134I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.5 258257 chr12 120208610 120208610 C T rs56315024 CIT Synonymous SNV Q729Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.25 258258 chr3 57489750 57489750 G - DNAH12 A360Vfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 258259 chr16 731280 731280 G A STUB1 Synonymous SNV A24A 0 0 0 1 0 0 0.003 0 0 0 0 0 15 258260 chr12 120616446 120616446 G A rs61739356 GCN1 Synonymous SNV D214D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.31 258261 chr16 1250725 1250725 C G CACNA1H Nonsynonymous SNV L377V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 258262 chr3 58849479 58849479 C G rs147935364 C3orf67 Nonsynonymous SNV Q411H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.46 258263 chr16 1256105 1256105 G A rs531253297 CACNA1H Nonsynonymous SNV V869I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.4 258264 chr3 69987068 69987068 A T rs777666331 MITF Nonsynonymous SNV K43N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 258265 chr12 121711931 121711931 G A rs891779 CAMKK2 Synonymous SNV S133S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.693 258266 chr12 121712264 121712264 G A rs891780 CAMKK2 Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.837 258267 chr12 121747568 121747568 C T rs77885487 ANAPC5 Nonsynonymous SNV M552I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 258268 chr12 121947730 121947730 G A rs78494968 KDM2B Synonymous SNV G398G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.802 258269 chr12 122107318 122107318 G A rs34753496 MORN3 Synonymous SNV N24N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.568 258270 chr12 122252458 122252458 G A SETD1B Synonymous SNV T779T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.748 258271 chr12 122284785 122284785 C T rs529795459 HPD Nonsynonymous SNV E272K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 258272 chr12 122839844 122839844 A G CLIP1 Nonsynonymous SNV S341P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 258273 chr12 123067437 123067437 A T rs61750347 KNTC1 Synonymous SNV A1056A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 258274 chr12 123086088 123086088 T G rs141319247 KNTC1 Nonsynonymous SNV D1523E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 258275 chr12 123273472 123273472 A G rs79659982 CCDC62 Synonymous SNV L222L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.687 258276 chr12 123341245 123341245 C T rs59499651 HIP1R Nonsynonymous SNV A531V 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 0.24 258277 chr16 2144180 2144180 G C rs141946034 PKD1 Nonsynonymous SNV L3510V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 0.003 258278 chr12 124332641 124332641 G A rs35685787 DNAH10 Nonsynonymous SNV R1865K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.414 258279 chr12 124343753 124343753 G C rs75245840 DNAH10 Synonymous SNV V2111V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.367 258280 chr12 124377785 124377785 G C rs73221409 DNAH10 Nonsynonymous SNV V2883L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.7 258281 chr16 3141819 3141819 G T ZSCAN10 Synonymous SNV G88G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.692 258282 chr16 2762761 2762761 C T PRSS27 Nonsynonymous SNV G143R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 258283 chr4 155155895 155155895 C T DCHS2 Synonymous SNV Q3303Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.584 258284 chr12 125348204 125348204 G A rs10396208 SCARB1 Synonymous SNV C21C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.35 258285 chr12 125451405 125451405 T G rs35165507 DHX37 Nonsynonymous SNV K508N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.471 258286 chr16 4414328 4414328 G A rs144470003 CORO7, CORO7-PAM16 Synonymous SNV D323D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.659 258287 chr4 121958712 121958712 C T rs759524781 NDNF Synonymous SNV S138S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.09 258288 chr4 2834132 2834132 C T rs377411211 SH3BP2 Nonsynonymous SNV S494L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.9 258289 chr4 3076604 3076627 CAGCAGCAGCAGCAGCAGCAGCAG - HTT Q31_Q38del 0 0 0 1 0 0 0.003 0 0 0 0 0 258290 chr4 3076625 3076627 CAG - HTT Q38del 0 0 0 1 0 0 0.003 0 0 0 0 0 258291 chr4 125591504 125591504 A T rs949939674 ANKRD50 Nonsynonymous SNV D797E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 25.7 258292 chr12 131623787 131623787 C T rs145514604 ADGRD1 Synonymous SNV R868R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 258293 chr16 4848144 4848144 G A rs780108056 ROGDI Synonymous SNV N191N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 9.261 258294 chr4 37445985 37445985 G A NWD2 Nonsynonymous SNV S792N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.21 258295 chr4 100571601 100571601 G T rs192931094 C4orf54 Nonsynonymous SNV A1402D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.14 258296 chr4 138451109 138451109 C G PCDH18 Nonsynonymous SNV V712L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 258297 chr4 152682104 152682104 G C rs372266285 GATB Nonsynonymous SNV R11G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.434 258298 chr13 21306113 21306113 G A rs34399030 EEF1AKMT1 Synonymous SNV D125D 0.002 0 0 0 2 0 0 0 1 0 0 0 0.422 258299 chr4 4269724 4269724 T C rs752038504 LYAR Synonymous SNV T344T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 258300 chr4 4393283 4393283 G A rs765800071 NSG1 Nonsynonymous SNV V71I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 258301 chr13 23905253 23905253 G A rs11554397 SACS Synonymous SNV S4107S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.489 258302 chr13 23907710 23907710 A G rs35670472 SACS Synonymous SNV S3288S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.102 258303 chr13 23929158 23929158 G A rs113756713 SACS Synonymous SNV I384I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.412 258304 chr13 28004018 28004018 A C rs1803810 GTF3A Nonsynonymous SNV N105T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.801 258305 chr13 28498699 28498699 - GCC rs193922357 PDX1 P244_G245insP 0.001 0 0 0 1 0 0 0 0 0 0 0 258306 chr13 28750683 28750683 A G rs142608239 PAN3 Synonymous SNV P202P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 258307 chr4 54140135 54140135 A T SCFD2 Nonsynonymous SNV I390N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 258308 chr13 30091337 30091337 C T rs982782612 SLC7A1 Nonsynonymous SNV V541M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.646 258309 chr4 56308660 56308660 T A rs150358770 CLOCK Nonsynonymous SNV M682L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 258310 chr4 56448305 56448305 G A rs775165131 PDCL2 Nonsynonymous SNV R36C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.4 258311 chr13 32785131 32785131 C T rs111657385 FRY Synonymous SNV Y1517Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.75 258312 chr13 32912361 32912361 G A rs41293485 BRCA2 Nonsynonymous SNV C1290Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.059 258313 chr4 57843732 57843732 G T rs201957616 NOA1 Nonsynonymous SNV P7Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 4.418 258314 chr4 1309340 1309340 C T rs147968346 MAEA Synonymous SNV C136C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.23 258315 chr13 38166289 38166289 A G rs778508719 POSTN Synonymous SNV Y77Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.281 258316 chr4 169799309 169799309 G C rs863224384 PALLD Synonymous SNV P89P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.653 258317 chr4 169799315 169799315 G C rs777359545 PALLD Synonymous SNV P91P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.506 258318 chr4 169799324 169799324 G C PALLD Synonymous SNV P94P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.497 258319 chr13 42874710 42874710 C T rs61748843 AKAP11 Nonsynonymous SNV R610C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 33 258320 chr13 42877112 42877112 A C rs17063167 AKAP11 Nonsynonymous SNV L1410F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 258321 chr13 45563535 45563535 C T rs75696445 NUFIP1 Nonsynonymous SNV G13R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22 258322 chr13 46115755 46115755 C T rs200379879 ERICH6B Nonsynonymous SNV G645S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 258323 chr13 46584500 46584500 G A rs79878411 ZC3H13 Synonymous SNV P243P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 258324 chr4 48114517 48114517 G A rs41265727 TXK Nonsynonymous SNV R63C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 5.989 258325 chr4 48563497 48563497 C T rs200059812 FRYL Nonsynonymous SNV A1285T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 24.1 258326 chr13 73636392 73636392 C A rs115503899 KLF5 Nonsynonymous SNV L128I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 258327 chr13 78178481 78178481 T G rs79098906 SCEL-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.375 258328 chr13 79191195 79191195 T C rs143101102 OBI1 Nonsynonymous SNV N234S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 258329 chr13 80094993 80094993 C T rs55887763 NDFIP2 Nonsynonymous SNV P124S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.166 258330 chr4 169632944 169632944 G A rs766285791 PALLD Nonsynonymous SNV G230R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 258331 chr4 83748723 83748723 G A SEC31A Synonymous SNV D877D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.244 258332 chr4 170322807 170322807 G A rs370914189 NEK1 Synonymous SNV H1096H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.322 258333 chr4 1730225 1730225 C T rs148296260 TACC3 Nonsynonymous SNV P366S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.49 258334 chr13 101769320 101769320 G A rs114554432 NALCN Nonsynonymous SNV R744C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 258335 chr13 102220050 102220050 G A rs62637618 ITGBL1 Nonsynonymous SNV G13D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.7 258336 chr4 176733244 176733244 A G rs934086402 LOC101928590 0.001 0 0 0 1 0 0 0 0 0 0 0 4.437 258337 chr13 108861048 108861048 C T rs2232642 LIG4 Nonsynonymous SNV A857T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.2 258338 chr13 108862810 108862810 G A rs2232638 LIG4 Synonymous SNV Y269Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.076 258339 chr13 110435719 110435719 G T rs763944537 IRS2 Synonymous SNV S894S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 258340 chr13 110833708 110833708 C T rs78426988 COL4A1 Synonymous SNV G708G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.853 258341 chr13 111299509 111299509 G A rs79081036 CARS2 Nonsynonymous SNV R378C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 258342 chr13 113487316 113487316 C T rs151067179 ATP11A Nonsynonymous SNV A513V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 35 258343 chr13 113728811 113728811 C T rs10162257 MCF2L Synonymous SNV I312I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.42 258344 chr13 114193690 114193690 G A rs547981353 TMCO3 Nonsynonymous SNV R354H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 258345 chr14 20388960 20388960 C A rs79276613 OR4K5 Nonsynonymous SNV N65K 0.001 0 0 0 1 0 0 0 0 0 0 0 25 258346 chr14 20389543 20389543 T C rs75608027 OR4K5 Nonsynonymous SNV W260R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 258347 chr14 20665906 20665906 - A rs150549668 OR11G2 Frameshift insertion F139Vfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 258348 chr14 20898761 20898761 C A rs376086238 KLHL33 Nonsynonymous SNV R25L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 258349 chr14 21025161 21025161 A G rs74581911 RNASE9 Nonsynonymous SNV L23P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.281 258350 chr14 21025203 21025203 T G rs111738679 RNASE9 Nonsynonymous SNV H9P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 258351 chr14 21161973 21161973 A G rs17560 ANG Nonsynonymous SNV K84E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 258352 chr14 21561165 21561165 C T rs61749060 ZNF219 Synonymous SNV R97R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 258353 chr14 21792807 21792807 G A rs74034910 RPGRIP1 Nonsynonymous SNV R598Q 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 17.44 258354 chr14 21873997 21873997 T C CHD8 Synonymous SNV T978T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.681 258355 chr14 22138269 22138269 T G rs17109034 OR4E1 Synonymous SNV R294R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.06 258356 chr14 22138886 22138886 C T rs60080686 OR4E1 Nonsynonymous SNV V89M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 11.54 258357 chr14 23344848 23344848 C T rs35043211 LRP10 Nonsynonymous SNV R231W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 258358 chr14 23540686 23540686 G A ACIN1 Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 258359 chr4 48592838 48592838 T C FRYL Nonsynonymous SNV I449V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.2 258360 chr5 137542304 137542304 C T CDC23 Nonsynonymous SNV A102T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 258361 chr14 23828141 23828141 C T rs150301064 EFS Nonsynonymous SNV D306N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 258362 chr14 24517983 24517983 T G rs57000189 DHRS4L1 Nonsynonymous SNV L82R 0.004 0.003 0.003 1 5 1 0.003 1 0 0 0 0 12.22 258363 chr14 24534474 24534474 C A rs112606230 CARMIL3 Synonymous SNV R1130R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 258364 chr14 24534860 24534860 G A rs112875120 CARMIL3 Synonymous SNV G1142G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.991 258365 chr14 24568287 24568287 C T rs144458057 PCK2 Nonsynonymous SNV P232S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 258366 chr4 619754 619754 G A rs377564095 PDE6B Synonymous SNV V113V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.853 258367 chr14 24839756 24839756 C T rs2229310 NFATC4 Synonymous SNV L384L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.91 258368 chr14 24886410 24886410 C A rs201284188 NYNRIN Synonymous SNV R1819R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 258369 chr17 650175 650175 T G GEMIN4 Nonsynonymous SNV K370Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.053 258370 chr14 25043951 25043951 G A rs61737120 CTSG Nonsynonymous SNV T90I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.33 258371 chr14 25045386 25045386 C G rs61737123 CTSG Nonsynonymous SNV G15A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 21.4 258372 chr4 79461823 79461823 C A rs983486892 FRAS1 Nonsynonymous SNV L3862M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 258373 chr4 88411497 88411497 C T rs986278081 SPARCL1 Nonsynonymous SNV A362T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258374 chr4 88415316 88415316 A G SPARCL1 Synonymous SNV G87G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 258375 chr5 140740539 140740539 C T rs746958816 PCDHGB2 Synonymous SNV Y279Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.081 258376 chr14 36155749 36155749 G A rs76969155 RALGAPA1 Nonsynonymous SNV S1312L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 258377 chr14 36169466 36169466 G C RALGAPA1 Nonsynonymous SNV A770G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 258378 chr14 39762575 39762575 A G rs73277460 MIA2 Nonsynonymous SNV Q82R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.757 258379 chr14 45431707 45431707 C G rs544996265 TOGARAM1 Nonsynonymous SNV P28R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 258380 chr14 45433256 45433256 T C rs28927673 TOGARAM1 Synonymous SNV G544G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 258381 chr14 47120402 47120402 C T rs61745038 RPL10L Nonsynonymous SNV E180K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 258382 chr14 50074241 50074241 A G rs34947556 LRR1 Nonsynonymous SNV T136A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 258383 chr14 51410946 51410946 G A rs150483902 PYGL Nonsynonymous SNV T59M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 258384 chr4 99273671 99273671 C T RAP1GDS1 Synonymous SNV L95L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 258385 chr14 52937351 52937351 C T rs61746814 TXNDC16 Nonsynonymous SNV D449N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 258386 chr14 53066959 53066959 T C rs61995759 GPR137C Nonsynonymous SNV L206S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 258387 chr14 57052547 57052547 T C rs61732665 TMEM260 Synonymous SNV F87F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.066 258388 chr14 57749700 57749700 A C rs10140245 AP5M1 Nonsynonymous SNV E379D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 258389 chr14 59105157 59105157 G C rs373138468 DACT1 Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.62 258390 chr14 59730201 59730201 C T rs76482654 DAAM1 Synonymous SNV A2A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.63 258391 chr14 59931843 59931843 G A rs111740506 GPR135 Synonymous SNV S34S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.93 258392 chr14 60212626 60212626 C T rs77180956 RTN1 Nonsynonymous SNV R272H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.437 258393 chr14 61442538 61442538 C G rs115955317 TRMT5 Nonsynonymous SNV E395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.4 258394 chr4 88312213 88312213 G A rs771268663 HSD17B11 Nonsynonymous SNV L4F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 258395 chr5 13752393 13752393 C T rs188428209 DNAH5 Synonymous SNV T3626T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 12.34 258396 chr14 69697222 69697222 G A rs35371795 EXD2 Synonymous SNV K83K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 258397 chr14 69707787 69707787 C T rs35643457 EXD2 Synonymous SNV F487F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 258398 chr5 130785725 130785725 C T rs201609671 RAPGEF6 Nonsynonymous SNV R1072Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 258399 chr17 7804310 7804310 T C CHD3 Nonsynonymous SNV M1099T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 258400 chr14 71202692 71202692 T C rs78155813 MAP3K9 Synonymous SNV P633P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.497 258401 chr14 71445070 71445070 G A rs8019019 PCNX1 Synonymous SNV K672K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.606 258402 chr14 72985239 72985239 C T rs141432295 RGS6 Synonymous SNV D354D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.59 258403 chr14 73086008 73086008 G C rs73308335 DPF3 Synonymous SNV A378A 0.003 0 0 0 4 0 0 0 0 0 0 0 2.372 258404 chr14 73717721 73717721 C T rs146070218 PAPLN Nonsynonymous SNV A191V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 258405 chr14 73729347 73729347 C T rs373606990 PAPLN Synonymous SNV A845A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 258406 chr14 74196655 74196655 G C rs75954487 ELMSAN1 Nonsynonymous SNV P595A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.1 258407 chr14 74391416 74391416 G A rs377343715 ZNF410 Synonymous SNV P487P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.924 258408 chr14 74972839 74972839 G A rs141318496 LTBP2 Synonymous SNV N1363N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.8 258409 chr14 75150161 75150161 G A rs76067794 AREL1 Synonymous SNV L107L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 258410 chr5 179440232 179440232 A G rs148769235 RNF130 Synonymous SNV S174S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.217 258411 chr14 76249516 76249516 G A rs112181538 TTLL5 Nonsynonymous SNV A877T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.67 258412 chr17 16347195 16347195 G A rs759057922 LRRC75A Nonsynonymous SNV A209V 0 0 0 1 0 0 0.003 0 0 0 0 0 28 258413 chr14 77605953 77605953 G A rs35145114 ZDHHC22 Synonymous SNV L43L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.917 258414 chr14 77845198 77845198 G A rs11850656 SAMD15 Synonymous SNV L479L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 258415 chr14 77917639 77917639 G A rs17105802 VIPAS39 Synonymous SNV S78S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.617 258416 chr17 17881041 17881041 G C rs753959068 DRC3 Nonsynonymous SNV K43N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.82 258417 chr17 18047249 18047249 C T rs146633221 MYO15A Nonsynonymous SNV R2038C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 24.5 258418 chr5 145651076 145651076 C T RBM27 Stop gain R943X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 258419 chr14 89307242 89307242 A G rs139392523 TTC8 Nonsynonymous SNV N90S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.034 258420 chr14 90650548 90650548 A G rs34270669 KCNK13 Nonsynonymous SNV N143S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 258421 chr5 130769173 130769173 T C RAPGEF6 Synonymous SNV E1308E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 258422 chr5 130970710 130970710 A G RAPGEF6 Nonsynonymous SNV V5A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 258423 chr14 91780251 91780251 G C rs7160308 CCDC88C Nonsynonymous SNV L637V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.874 258424 chr14 92454633 92454633 C T rs11851376 TRIP11 Nonsynonymous SNV R1751K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.47 258425 chr14 92473994 92473994 T G rs2273186 TRIP11 Nonsynonymous SNV E505A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.9 258426 chr14 92790282 92790282 G T rs149248445 SLC24A4 Synonymous SNV A36A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.49 258427 chr14 93397623 93397623 T C rs9658653 CHGA Synonymous SNV D128D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 258428 chr14 93398727 93398727 C G rs9658663 CHGA Nonsynonymous SNV A123G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 258429 chr14 94088850 94088850 C T rs7160631 UNC79 Synonymous SNV P1580P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.726 258430 chr14 94512109 94512109 G A rs17129442 OTUB2 Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.619 258431 chr14 94528530 94528530 G A rs141018929 DDX24 Nonsynonymous SNV R386C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 258432 chr14 94545602 94545602 A G rs144691729 DDX24 Synonymous SNV L163L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.337 258433 chr14 94582184 94582184 C T rs143275071 IFI27 Nonsynonymous SNV S15L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 258434 chr14 94962897 94962897 T C rs74077729 SERPINA12 Nonsynonymous SNV M240V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.8 258435 chr5 13891219 13891219 A T rs149654950 DNAH5 Nonsynonymous SNV L815M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 258436 chr14 96944989 96944989 G A rs115457371 AK7 Synonymous SNV P515P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 258437 chr14 100129213 100129213 G T rs76299309 HHIPL1 Synonymous SNV G501G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 258438 chr17 27899662 27899662 G T rs202220425 TP53I13 Nonsynonymous SNV R296L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 258439 chr17 27899663 27899663 C T rs201688570 TP53I13 Synonymous SNV R296R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.8 258440 chr14 100847729 100847729 C T rs57039819 WDR25 Synonymous SNV T156T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.721 258441 chr5 149429961 149429961 G A HMGXB3 Synonymous SNV E950E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 258442 chr14 101347727 101347727 G A rs75735544 RTL1 Synonymous SNV I1133I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.845 258443 chr14 102678868 102678868 C G rs186444962 WDR20 Nonsynonymous SNV H179Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 258444 chr14 102718093 102718093 C G rs149850506 MOK Nonsynonymous SNV K32N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.6 258445 chr5 140357 140357 A G PLEKHG4B Nonsynonymous SNV S335G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.963 258446 chr14 102797976 102797976 C T rs115710329 ZNF839 Synonymous SNV D287D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 258447 chr14 102805245 102805245 T A rs116469270 ZNF839 Nonsynonymous SNV D468E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 258448 chr14 103941379 103941379 C A rs56134485 MARK3 Synonymous SNV T359T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 258449 chr14 103941392 103941392 A G rs56305318 MARK3 Nonsynonymous SNV S364G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 258450 chr5 68660786 68660788 TCA - rs770525692 TAF9 D260del 0 0 0 1 0 0 0.003 0 0 0 0 0 258451 chr14 105052863 105052863 G A rs7152786 C14orf180 Synonymous SNV V32V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.007 258452 chr5 156346498 156346498 C T TIMD4 Synonymous SNV R341R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.804 258453 chr14 105404463 105404463 G A rs201939750 AHNAK2 Synonymous SNV P5675P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.639 258454 chr14 105405159 105405159 C T rs185956574 AHNAK2 Synonymous SNV R5443R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 258455 chr14 105406044 105406044 T C rs190413347 AHNAK2 Synonymous SNV L5148L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.26 258456 chr14 105945338 105945338 C G rs11556118 CRIP2 Synonymous SNV T194T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.293 258457 chr15 25963484 25963484 C T rs116055743 ATP10A Nonsynonymous SNV G476S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.05 258458 chr15 31283687 31283687 T C rs371816349 MTMR10 Nonsynonymous SNV K8R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 258459 chr17 39197267 39197267 G C rs199855610 KRTAP1-1 Nonsynonymous SNV T128S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.1 258460 chr15 35149048 35149048 G A rs61741130 AQR Nonsynonymous SNV P1468L 0.001 0 0.007 0 1 0 0 2 0 0 1 0 7.932 258461 chr15 40094085 40094085 C T rs199511698 GPR176 Nonsynonymous SNV A221T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 258462 chr15 40558407 40558407 A G rs149315160 BUB1B-PAK6, PAK6 Nonsynonymous SNV Q190R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.043 258463 chr15 40558431 40558431 G A rs144246288 BUB1B-PAK6, PAK6 Nonsynonymous SNV C198Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.27 258464 chr5 179731846 179731846 C T rs538567339 GFPT2 Nonsynonymous SNV V590I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 258465 chr15 41068409 41068409 C T rs73398528 DNAJC17 Nonsynonymous SNV D155N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 258466 chr15 41102326 41102326 G A rs34819163 ZFYVE19 Nonsynonymous SNV R210H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 258467 chr15 41104997 41104997 G C rs7178363 ZFYVE19 Synonymous SNV L309L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.948 258468 chr15 41192454 41192454 T C VPS18 Synonymous SNV L480L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 258469 chr5 180687431 180687431 T C rs78075294 TRIM52 Synonymous SNV E128E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 258470 chr15 41829157 41829157 A C rs776563133 RPAP1 Nonsynonymous SNV V56G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 258471 chr15 41854885 41854885 C T rs56363203 TYRO3 Synonymous SNV P138P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.79 258472 chr15 42028805 42028805 A G rs61736068 MGA Nonsynonymous SNV K1448R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.6 258473 chr17 40336500 40336500 - GCA rs769225550 HCRT L22_P23insL 0.001 0 0 1 1 0 0.003 0 0 0 0 0 258474 chr15 42126956 42126956 C G rs7174710 JMJD7, JMJD7-PLA2G4B Nonsynonymous SNV A28G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 17.88 258475 chr15 42127026 42127026 G A rs145789404 JMJD7, JMJD7-PLA2G4B Synonymous SNV P51P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 258476 chr5 172571556 172571556 C T rs559012935 BNIP1 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 258477 chr15 42179440 42179440 C T rs61731622 SPTBN5 Nonsynonymous SNV G287R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 258478 chr6 109774859 109774859 C T rs781228195 MICAL1 Nonsynonymous SNV G150S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 258479 chr5 38458491 38458491 C T rs371848483 EGFLAM Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 258480 chr15 42731852 42731852 G C rs61731604 ZNF106 Nonsynonymous SNV A470G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 258481 chr15 42731953 42731953 T C rs61748622 ZNF106 Synonymous SNV P436P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.258 258482 chr5 41033236 41033236 T C MROH2B Synonymous SNV T756T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.673 258483 chr15 42981978 42981978 G A rs61218673 STARD9 Synonymous SNV R2734R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.304 258484 chr15 43022830 43022830 G A rs80338696 CDAN1 Nonsynonymous SNV R714W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 29.4 258485 chr15 48414208 48414208 A G rs147773132 SLC24A5 Synonymous SNV L92L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 258486 chr5 54579476 54579484 TGTTGCTGC - rs779226702 DHX29 Q506_Q508del 0.002 0 0 0 2 0 0 0 0 0 0 0 258487 chr15 48429118 48429118 C G rs147513140 SLC24A5 Nonsynonymous SNV Q277E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 258488 chr15 50773975 50773975 A C rs113169913 USP8 Nonsynonymous SNV K429Q 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 6.759 258489 chr15 50885906 50885906 A G rs34709007 TRPM7 Synonymous SNV D1172D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.926 258490 chr5 9063197 9063197 G A SEMA5A Nonsynonymous SNV R774C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 258491 chr15 52901172 52901172 T C rs757499050 FAM214A Nonsynonymous SNV I654V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 258492 chr15 53081094 53081094 G A ONECUT1 Synonymous SNV L330L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.441 258493 chr15 54307409 54307409 A G UNC13C Nonsynonymous SNV D770G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 258494 chr6 144181691 144181691 G A LTV1 0.002 0 0 3 2 0 0.008 0 0 0 0 0 27.6 258495 chr15 55790516 55790516 C T rs146009735 DNAAF4 Synonymous SNV Q4Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.92 258496 chr15 56155208 56155210 GAG - rs571063108 NEDD4 P539del 0.001 0 0 0 1 0 0 0 0 0 0 0 258497 chr15 57837830 57837830 C T rs779306795 CGNL1 Nonsynonymous SNV R1181W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 258498 chr15 58855848 58855848 A G rs75983069 LIPC Synonymous SNV P438P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.258 258499 chr15 62182540 62182540 C T rs74749187 VPS13C Synonymous SNV L3012L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.119 258500 chr5 75967598 75967598 A G rs752494336 IQGAP2 Nonsynonymous SNV Q449R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 258501 chr15 62209564 62209564 T C rs139185515 VPS13C Synonymous SNV P2634P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.988 258502 chr5 9227024 9227024 G A SEMA5A Nonsynonymous SNV T130I 0.002 0 0 0 2 0 0 0 0 0 0 0 25 258503 chr15 64428564 64428564 C T rs76908230 SNX1 Synonymous SNV F402F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 258504 chr5 93987535 93987535 T C SLF1 Synonymous SNV H289H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 258505 chr15 65111393 65111393 T C rs770445926 PIF1 Nonsynonymous SNV S455G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 258506 chr15 65223022 65223022 G A rs139114546 ANKDD1A Synonymous SNV E191E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.783 258507 chr6 152477157 152477157 C T rs774220095 SYNE1 Nonsynonymous SNV D111N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 258508 chr15 65347411 65347411 C T rs2232761 RASL12 Synonymous SNV P190P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 258509 chr15 66048717 66048717 A T rs181393625 DENND4A Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 258510 chr15 66191119 66191119 G A rs141847429 MEGF11 Nonsynonymous SNV P974L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 258511 chr15 66223278 66223278 C G rs566844611 MEGF11 Nonsynonymous SNV E431Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 258512 chr15 68582521 68582521 T C rs151125509 FEM1B Synonymous SNV Y275Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 258513 chr6 106968148 106968148 C T rs140546725 CRYBG1 Nonsynonymous SNV A614V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 258514 chr6 107391317 107391317 C T rs781860317 BEND3 Nonsynonymous SNV A360T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.188 258515 chr15 72612097 72612097 A G rs115738898 CELF6 Nonsynonymous SNV M40T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.99 258516 chr6 109527610 109527610 G A rs563383806 CCDC162P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.908 258517 chr15 73076148 73076148 - C rs146134030 ADPGK-AS1 0.001 0 0.01 0 1 0 0 3 0 0 0 0 258518 chr15 73615455 73615455 C T rs75307879 HCN4 Synonymous SNV T993T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.205 258519 chr15 73996701 73996701 G A rs150877011 CD276 Synonymous SNV L201L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.7 258520 chr15 76136135 76136135 A C rs138078011 UBE2Q2 Nonsynonymous SNV Q43P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 258521 chr15 77087669 77087669 C T rs192367223 SCAPER Nonsynonymous SNV A242T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 258522 chr15 77234025 77234025 A G rs578238571 RCN2 Synonymous SNV R165R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.596 258523 chr6 10924823 10924823 G T SYCP2L Nonsynonymous SNV L389F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 258524 chr6 109763755 109763755 G A rs150792146 SMPD2 Nonsynonymous SNV E140K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 258525 chr15 79748507 79748507 A G rs28579626 MINAR1 Synonymous SNV E6E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.163 258526 chr15 79749179 79749179 C T rs28660332 MINAR1 Synonymous SNV S230S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 258527 chr15 79750245 79750245 C T rs28649313 MINAR1 Nonsynonymous SNV H586Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.926 258528 chr15 79755607 79755609 GAG - rs576777506 MINAR1 E834del 0.001 0 0 0 1 0 0 0 0 0 0 0 258529 chr15 80472544 80472544 G A rs376563006 FAH Nonsynonymous SNV A347T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 258530 chr15 81625517 81625517 T A rs79678067 TMC3 Nonsynonymous SNV D849V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 258531 chr15 81654624 81654624 G A rs76735592 TMC3 Nonsynonymous SNV R111C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258532 chr15 83456003 83456003 A T rs201497392 FSD2 Nonsynonymous SNV V47D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.263 258533 chr17 76201529 76201529 C T rs370072059 AFMID Synonymous SNV L192L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 258534 chr15 86122790 86122790 G A rs35930051 AKAP13 Synonymous SNV V497V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.351 258535 chr17 76400127 76400127 G A PGS1 Synonymous SNV Q453Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.846 258536 chr17 76495054 76495054 C T DNAH17-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 6.154 258537 chr17 78063994 78063994 G T CCDC40 Synonymous SNV T963T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.561 258538 chr15 89079614 89079614 T C rs145676311 DET1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 258539 chr15 89382129 89382129 C A rs16942318 ACAN Nonsynonymous SNV D102E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.3 258540 chr15 89385085 89385085 C T rs35790816 ACAN Synonymous SNV A248A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.07 258541 chr17 78063948 78063979 GAACAACACAGGACGCACACAGGCACGTGCAC - CCDC40 Q951Rfs*132 0 0 0 2 0 0 0.005 0 0 0 0 1 258542 chr6 138192613 138192613 C T rs779379836 TNFAIP3 Synonymous SNV L83L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.965 258543 chr15 91027543 91027543 G A rs138269416 IQGAP1 Nonsynonymous SNV V1294I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.3 258544 chr15 91184447 91184447 - T rs144403546 CRTC3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 258545 chr15 91184483 91184483 C T rs77279390 CRTC3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 258546 chr15 91503684 91503684 C T rs61742976 RCCD1 Nonsynonymous SNV A302V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 258547 chr15 92694207 92694207 C T rs2302085 SLCO3A1 Synonymous SNV Y572Y 0.002 0 0 0 2 0 0 0 0 0 0 0 14.32 258548 chr6 12164213 12164213 G C rs368428661 HIVEP1 Nonsynonymous SNV S2559T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 258549 chr15 95019927 95019927 A T rs116786835 MCTP2 Nonsynonymous SNV I770L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.6 258550 chr6 152557382 152557382 A G SYNE1 Synonymous SNV D6681D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.878 258551 chr15 99740205 99740205 C T rs73463371 TTC23 Synonymous SNV E226E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 258552 chr15 100252709 100252709 - CAGCAG MEF2A Q352_P353insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 258553 chr15 100273586 100273586 G A rs1006656671 LYSMD4 Synonymous SNV V21V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.777 258554 chr15 100942952 100942952 C T rs115420351 CERS3 Nonsynonymous SNV R373K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.686 258555 chr6 157256668 157256668 A T rs139125255 ARID1B Nonsynonymous SNV E652D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 258556 chr15 101593504 101593504 G A rs78975797 LRRK1 Synonymous SNV L1311L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.19 258557 chr15 101717598 101717598 C T CHSY1 Nonsynonymous SNV A802T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 258558 chr15 102358650 102358650 G A rs138459892 OR4F15 Synonymous SNV K87K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.672 258559 chr6 159403655 159403655 C T rs776777631 RSPH3 Synonymous SNV Q232Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.22 258560 chr16 618185 618185 C T rs764008340 NHLRC4 Synonymous SNV H46H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.366 258561 chr16 683909 683909 C T rs138055478 WFIKKN1 Nonsynonymous SNV P500L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 258562 chr6 44216446 44216448 TCA - HSP90AB1 I29del 0 0 0 1 0 0 0.003 0 0 0 0 0 258563 chr6 168457802 168457802 G T rs778629514 FRMD1 Nonsynonymous SNV A474D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 258564 chr16 781651 781651 C T rs146015313 CIAO3 Synonymous SNV S316S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 258565 chr6 36339294 36339294 C G ETV7 Synonymous SNV L8L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.371 258566 chr16 863467 863467 G A rs542054372 PRR25 Nonsynonymous SNV R272Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.845 258567 chr16 1264974 1264974 G A rs58764017 CACNA1H Synonymous SNV S1638S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.622 258568 chr16 1270183 1270183 C T rs368835582 CACNA1H Nonsynonymous SNV A2078V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.92 258569 chr16 1470497 1470497 A G rs116457806 C16orf91 Nonsynonymous SNV I50T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 258570 chr6 26108096 26108096 C G rs180928364 H1-6 Nonsynonymous SNV D76H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 258571 chr16 1614057 1614057 G A rs34900355 IFT140 Nonsynonymous SNV P670S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 258572 chr16 1614147 1614147 C T rs61742753 IFT140 Nonsynonymous SNV D640N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.207 258573 chr16 1637997 1637997 C T rs35404373 IFT140 Nonsynonymous SNV R280Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.351 258574 chr16 1642500 1642500 C A rs61739554 IFT140 Synonymous SNV T153T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.97 258575 chr16 1716083 1716083 C T CRAMP1 Nonsynonymous SNV S921L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258576 chr6 2785482 2785482 G - rs780041793 WRNIP1 Stop gain V657* 0.001 0 0 0 1 0 0 0 0 0 0 0 258577 chr16 1720713 1720713 T C rs59339153 CRAMP1 Nonsynonymous SNV I1183T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.37 258578 chr16 1869907 1869907 G A rs17849371 HAGH Synonymous SNV S141S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 1.895 258579 chr16 1996705 1996705 G A rs34265469 RPL3L Nonsynonymous SNV P291L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.185 258580 chr6 26156633 26156633 G A rs781753197 H1-4 Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.125 258581 chr16 2034433 2034433 C G rs749652504 GFER Nonsynonymous SNV R72G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 258582 chr16 2125819 2125819 C T rs143537386 TSC2 Synonymous SNV H655H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.423 258583 chr6 27860923 27860923 G A rs767882743 H2AC17 Nonsynonymous SNV S2F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 258584 chr16 2811632 2811632 C T rs143815852 SRRM2 Nonsynonymous SNV P368L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.573 258585 chr6 35213012 35213012 G A SCUBE3 Synonymous SNV Q802Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.729 258586 chr16 2987144 2987144 G A rs114746108 FLYWCH1 Synonymous SNV T512T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 258587 chr16 3100388 3100388 C G rs61747721 MMP25 Nonsynonymous SNV P168A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 258588 chr16 3107048 3107048 G A rs61747718 MMP25 Nonsynonymous SNV D226N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 258589 chr16 3108940 3108940 C T rs78688869 MMP25 Synonymous SNV A510A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.34 258590 chr16 3282476 3282476 T C rs61731425 ZNF200 Synonymous SNV Q137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 258591 chr16 3304483 3304483 C T rs200766991 MEFV Synonymous SNV E195E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.509 258592 chr16 3349580 3349580 C T rs146656234 TIGD7 Synonymous SNV K345K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.253 258593 chr16 3406564 3406564 A T rs62000974 OR2C1 Synonymous SNV A208A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 258594 chr6 1930453 1930453 C T GMDS Nonsynonymous SNV V189I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 258595 chr16 3433146 3433146 G A rs141657089 ZSCAN32 Synonymous SNV T311T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.805 258596 chr16 3434724 3434724 G A rs34097514 ZSCAN32 Synonymous SNV G34G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.53 258597 chr16 3447500 3447500 G T rs140432239 ZSCAN32 Nonsynonymous SNV Q20K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.249 258598 chr16 3486577 3486577 G A rs35587796 ZNF597 Synonymous SNV C374C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.463 258599 chr16 3534780 3534780 C G rs34464545 NAA60 Nonsynonymous SNV H110Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.48 258600 chr16 3613493 3613493 C T rs116625890 NLRC3 Nonsynonymous SNV S482N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.167 258601 chr16 3632567 3632567 G A rs143818824 SLX4 Nonsynonymous SNV R1761C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.1 258602 chr6 4087948 4087948 G T rs9503910 C6orf201 Nonsynonymous SNV D25Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 258603 chr16 3727609 3727609 G A rs59479410 TRAP1 Synonymous SNV I145I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.94 258604 chr16 4414345 4414345 C T rs9928967 CORO7, CORO7-PAM16 Nonsynonymous SNV A318T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.025 258605 chr16 4519300 4519300 C T rs28576729 NMRAL1 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 258606 chr6 43276118 43276118 A C rs144058577 CRIP3 Nonsynonymous SNV W25G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 258607 chr16 4630090 4630090 G A rs114695425 C16orf96 Synonymous SNV A772A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.221 258608 chr6 43415429 43415429 C T rs6901992 ABCC10 Nonsynonymous SNV T1210I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.931 258609 chr6 2836442 2836442 A G rs767484282 SERPINB1 Nonsynonymous SNV M156T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.72 258610 chr6 2840750 2840750 G A rs758176299 SERPINB1 Nonsynonymous SNV P24L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 258611 chr16 4935278 4935278 G T rs11863749 PPL Synonymous SNV T1126T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.458 258612 chr6 44145110 44145110 C T rs375678459 CAPN11 Nonsynonymous SNV R457W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 258613 chr6 3010398 3010398 G A rs745625116 NQO2 Synonymous SNV P49P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.261 258614 chr6 44150755 44150755 A T rs146744651 CAPN11 Synonymous SNV A672A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 258615 chr16 4949039 4949039 T G PPL Nonsynonymous SNV E284A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 258616 chr6 44219803 44219803 G A rs324134 HSP90AB1 Synonymous SNV V510V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 258617 chr19 440882 440882 G T rs113455631 SHC2 Nonsynonymous SNV N173K 0 0 0 2 0 0 0.005 0 0 0 0 0 23 258618 chr16 5094737 5094737 C T rs141090527 C16orf89 Synonymous SNV P352P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.462 258619 chr16 9000304 9000304 T C rs144447086 USP7 Synonymous SNV L453L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.17 258620 chr16 9857174 9857174 T C rs765372126 GRIN2A Synonymous SNV A1409A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.55 258621 chr16 10769873 10769873 G A rs115325161 TEKT5 Synonymous SNV N343N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.106 258622 chr16 11012342 11012342 C T rs150276623 CIITA Synonymous SNV A452A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.36 258623 chr16 11362995 11362995 C T rs200495915 TNP2 Nonsynonymous SNV R42H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 258624 chr16 11797538 11797538 T C rs192617601 TXNDC11 Nonsynonymous SNV I288V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 258625 chr16 15967449 15967449 C G rs149912065 FOPNL Nonsynonymous SNV R50P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 258626 chr16 16251598 16251598 C T rs1026155579 ABCC6 Synonymous SNV R1268R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 258627 chr6 36106782 36106782 C T rs752717013 MAPK13 Nonsynonymous SNV P323L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 258628 chr6 36711520 36711520 G A rs145875050 CPNE5 Synonymous SNV G153G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.14 258629 chr16 18809333 18809333 G A rs138748723 ARL6IP1 Synonymous SNV S39S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.86 258630 chr16 19474653 19474653 C T rs140244726 TMC5 Synonymous SNV L154L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.419 258631 chr6 37614990 37614990 C T MDGA1 Nonsynonymous SNV A669T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258632 chr16 19873177 19873177 G A rs61746631 GPRC5B Synonymous SNV V514V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.4 258633 chr16 19883235 19883235 C T rs138087508 GPRC5B Synonymous SNV S442S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 258634 chr16 20337747 20337747 G A rs201715356 GP2 Nonsynonymous SNV H3Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 258635 chr16 20360085 20360085 G C rs187555378 UMOD Nonsynonymous SNV L180V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 258636 chr16 20370712 20370712 C T rs150620991 PDILT Nonsynonymous SNV V562M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 258637 chr16 20373803 20373803 C T rs11865916 PDILT Nonsynonymous SNV V447I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 258638 chr16 20681229 20681229 T A rs61745764 ACSM1 Nonsynonymous SNV T278S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 258639 chr16 20681288 20681288 T C rs61742591 ACSM1 Nonsynonymous SNV K258R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.39 258640 chr16 20752965 20752965 C T rs149124153 THUMPD1 Nonsynonymous SNV A33T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 258641 chr16 20996868 20996868 A T rs34179606 DNAH3 Nonsynonymous SNV I2353N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.2 258642 chr16 21212848 21212848 G A rs116035262 ZP2 Synonymous SNV N503N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.666 258643 chr16 23417478 23417478 G T rs776885702 COG7 Nonsynonymous SNV N527K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 258644 chr16 23486244 23486244 A C rs11861512 GGA2 Synonymous SNV P477P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.754 258645 chr6 7374333 7374333 T C rs780948876 CAGE1 Nonsynonymous SNV Y104C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.722 258646 chr16 23722307 23722307 C T rs142712134 ERN2 Synonymous SNV L42L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 258647 chr6 43112282 43112282 G A rs746367585 PTK7 Nonsynonymous SNV R652H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 258648 chr6 43190581 43190581 A G rs752546727 CUL9 Nonsynonymous SNV E2366G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 258649 chr16 27078382 27078382 G A rs151272827 C16orf82 Synonymous SNV Q22Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.716 258650 chr16 27078517 27078517 C T rs116470754 C16orf82 Synonymous SNV S67S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.878 258651 chr6 44413507 44413507 A G CDC5L Nonsynonymous SNV N736S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 258652 chr16 28508413 28508413 A G rs61753940 APOBR Nonsynonymous SNV Q684R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 258653 chr16 28508782 28508782 A C rs113343275 APOBR Nonsynonymous SNV Q807P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.048 258654 chr16 28844448 28844448 C A rs75223378 ATXN2L Synonymous SNV P582P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 258655 chr16 28845448 28845448 G A rs75127228 ATXN2L Synonymous SNV P702P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 258656 chr16 28909627 28909627 C T rs114675305 ATP2A1 Nonsynonymous SNV P415L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.92 258657 chr16 28925731 28925731 G A rs74014814 RABEP2 Synonymous SNV G240G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.072 258658 chr6 4892501 4892501 C T rs150092030 CDYL Synonymous SNV P61P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.07 258659 chr16 30569499 30569499 G A rs201933470 ZNF764 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 258660 chr16 30569500 30569500 C T rs200023668 ZNF764 Nonsynonymous SNV A2T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 258661 chr16 30736376 30736376 C G rs147477244 SRCAP Synonymous SNV P1877P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 11.09 258662 chr16 30776531 30776531 G A rs138667885 RNF40 Synonymous SNV S267S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 258663 chr16 31075235 31075235 C T rs138850929 ZNF668 Synonymous SNV V182V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.15 258664 chr16 31151622 31151622 C T rs61729752 PRSS36 Nonsynonymous SNV R756K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 258665 chr16 31151927 31151927 G A rs61976958 PRSS36 Synonymous SNV L680L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.026 258666 chr16 31228218 31228218 G A rs74015098 PYDC1 Synonymous SNV L44L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 258667 chr16 31230697 31230697 C T rs115885262 TRIM72 Nonsynonymous SNV R192C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 258668 chr16 31235548 31235548 G C rs58585879 TRIM72 Synonymous SNV L302L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.773 258669 chr16 31409129 31409129 C A rs142218903 ITGAD Nonsynonymous SNV T109N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 258670 chr16 47117344 47117344 A T rs2231983 NETO2 Nonsynonymous SNV S449T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.05 258671 chr16 48121912 48121912 A G rs34106426 ABCC12 Nonsynonymous SNV I1187T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.099 258672 chr16 48177934 48177934 G A rs60702908 ABCC12 Synonymous SNV F54F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.237 258673 chr16 48227839 48227839 G A rs147271624 ABCC11 Nonsynonymous SNV T820M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.058 258674 chr16 48234331 48234331 G A rs145630207 ABCC11 Synonymous SNV R646R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.595 258675 chr16 48250031 48250031 T C rs11860868 ABCC11 Synonymous SNV P315P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 258676 chr16 50059580 50059580 T C rs76218980 CNEP1R1 Nonsynonymous SNV L15P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.336 258677 chr16 50702844 50702844 C T rs75296679 LOC101927272 0.001 0 0 0 1 0 0 0 0 0 0 0 0.674 258678 chr16 50707361 50707361 C T rs57853215 SNX20 Nonsynonymous SNV G303S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.573 258679 chr16 50733743 50733743 G A rs34684955 NOD2 Nonsynonymous SNV A113T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.02 258680 chr16 50745091 50745091 G T rs77966199 NOD2 Synonymous SNV V396V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.115 258681 chr16 50745996 50745996 C G rs5743278 NOD2 Nonsynonymous SNV A698G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.629 258682 chr16 52484196 52484196 G C rs73583125 TOX3 Nonsynonymous SNV A224G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.1 258683 chr6 7231667 7231667 C T RREB1 Nonsynonymous SNV A1112V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.942 258684 chr16 53656191 53656191 G A rs146902870 RPGRIP1L Synonymous SNV S1090S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.438 258685 chr16 53738114 53738114 T C rs73609956 FTO Synonymous SNV T6T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.682 258686 chr16 53913782 53913782 T C rs148109727 FTO Synonymous SNV I308I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.633 258687 chr16 56691995 56691995 G T rs76144808 MT1F Nonsynonymous SNV A9S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.219 258688 chr16 56693058 56693058 G C rs73551702 MT1F Nonsynonymous SNV K56N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.813 258689 chr16 56857754 56857754 C G rs140028495 NUP93 Nonsynonymous SNV Q141E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.32 258690 chr16 56906605 56906605 G A rs146318329 SLC12A3 Synonymous SNV R334R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.357 258691 chr16 57005271 57005271 C T rs5885 CETP Synonymous SNV A212A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 258692 chr16 57188397 57188397 G A rs74544530 PSME3IP1 Synonymous SNV L190L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 258693 chr16 57261283 57261283 C T rs60653561 RSPRY1 Synonymous SNV Y397Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.7 258694 chr16 57261344 57261344 A G rs58714624 RSPRY1 Nonsynonymous SNV I418V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.646 258695 chr16 57318390 57318390 G A rs35649216 PLLP Synonymous SNV A21A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.309 258696 chr16 57416869 57416869 A G rs41467049 CX3CL1 Synonymous SNV A288A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.886 258697 chr16 57493629 57493629 G C rs61730662 COQ9 Nonsynonymous SNV K288N 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 18.67 258698 chr16 57562672 57562672 G T rs192319254 CCDC102A Synonymous SNV R140R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 258699 chr6 86329088 86329088 C T rs148994607 SYNCRIP Synonymous SNV E254E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 258700 chr16 57710156 57710156 C T rs57838522 ADGRG3 Nonsynonymous SNV T84M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.632 258701 chr16 57710229 57710229 T C rs56888556 ADGRG3 Synonymous SNV Y108Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 258702 chr16 57718325 57718325 G A rs76688596 ADGRG3 Nonsynonymous SNV G276S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.9 258703 chr16 58075608 58075608 G A rs111450724 MMP15 Nonsynonymous SNV R333Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 258704 chr7 100866989 100866989 G A rs149965883 ZNHIT1 Synonymous SNV T103T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.77 258705 chr7 100675900 100675900 C T rs762926065 MUC17 Synonymous SNV S401S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.213 258706 chr16 67854756 67854756 C G rs114326454 TSNAXIP1 Synonymous SNV S54S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 4.649 258707 chr16 67876808 67876808 - CAGCAA THAP11 Q132_S133insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 258708 chr16 67876817 67876818 GC - rs796753797 THAP11 Q121Afs*118 0.001 0 0 0 1 0 0 0 0 0 0 0 258709 chr16 67876820 67876826 GCAACAG - rs747270195 THAP11 Q121Hfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 258710 chr16 68011565 68011565 C A rs75651517 DPEP3 Synonymous SNV L308L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.31 258711 chr16 68055759 68055759 G A rs77242604 DDX28 Synonymous SNV D449D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.693 258712 chr16 68266599 68266599 G A rs114937364 ESRP2 Synonymous SNV C244C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 258713 chr16 68337959 68337959 G A rs188304848 SLC7A6OS Synonymous SNV S216S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 258714 chr16 69364084 69364084 C A rs76541160 PDF Synonymous SNV A130A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 258715 chr16 70358574 70358574 C A rs75820607 DDX19B Nonsynonymous SNV A8E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 258716 chr16 70428988 70428988 G A rs749103951 ST3GAL2 Nonsynonymous SNV R144W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 258717 chr16 70432236 70432236 C T rs62638718 ST3GAL2 Synonymous SNV S66S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 258718 chr16 70732690 70732690 C T rs751990445 VAC14 Synonymous SNV A328A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 258719 chr16 71602665 71602665 C T rs16973331 TAT Synonymous SNV E391E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.48 258720 chr16 72993904 72993904 G C rs116519588 ZFHX3 Nonsynonymous SNV H47Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 258721 chr16 74921593 74921593 C A rs61733726 WDR59 Nonsynonymous SNV G803C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 29.5 258722 chr16 74946072 74946072 G C rs16950139 WDR59 Nonsynonymous SNV F471L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.064 258723 chr16 75203296 75203296 T C rs34809121 ZFP1 Synonymous SNV F63F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.492 258724 chr16 75258636 75258636 G C rs8061550 CTRB1 Nonsynonymous SNV G177A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 258725 chr16 77759431 77759431 G A NUDT7 Nonsynonymous SNV V47M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.041 258726 chr16 81095474 81095474 T C rs35597223 C16orf46 Synonymous SNV K160K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 258727 chr16 81095628 81095628 G A rs137998021 C16orf46 Nonsynonymous SNV S109F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 258728 chr16 81095716 81095716 C A rs145959785 C16orf46 Nonsynonymous SNV A80S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 258729 chr7 133979711 133979711 G A rs2598289 SLC35B4 Synonymous SNV N290N 0.003 0 0 0 3 0 0 0 0 0 0 0 12.32 258730 chr16 81962190 81962190 C T rs114618894 PLCG2 Nonsynonymous SNV L848F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.5 258731 chr16 82673069 82673069 A G rs150875489 CDH13 Nonsynonymous SNV Q62R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.564 258732 chr16 84353156 84353156 G A rs35464240 WFDC1 Nonsynonymous SNV V181I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.91 258733 chr16 84516207 84516207 C T rs114062156 MEAK7 Synonymous SNV P356P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.179 258734 chr7 42065978 42065978 G C GLI3 Synonymous SNV P354P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.894 258735 chr16 85133785 85133785 G C rs148969047 FAM92B Nonsynonymous SNV T238S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.031 258736 chr7 150647233 150647233 A T KCNH2 Synonymous SNV T467T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 258737 chr7 150647235 150647235 - GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG KCNH2 G466_T467insPPPPPPPPPP 0 0.003 0 0 0 1 0 0 0 0 0 0 258738 chr7 117149127 117149127 A T rs397508335 CFTR Nonsynonymous SNV K68N 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.4 258739 chr7 149512342 149512342 G T SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 258740 chr7 149520552 149520552 C T rs76195238 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 258741 chr16 88787727 88787727 C T rs77170706 PIEZO1 Nonsynonymous SNV E1839K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.31 258742 chr16 88787781 88787781 C T rs78574543 PIEZO1 Nonsynonymous SNV G1821S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.115 258743 chr7 131128352 131128352 T A MKLN1 Nonsynonymous SNV F222Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 258744 chr7 155094097 155094097 C T rs142687202 INSIG1 Nonsynonymous SNV T73M 0.003 0 0 0 3 0 0 0 0 0 0 0 33 258745 chr16 89348715 89348715 A G rs578198369 ANKRD11 Nonsynonymous SNV I1412T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.005 258746 chr7 6187382 6187382 G A USP42 Synonymous SNV V415V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 258747 chr7 16445923 16445923 T C CRPPA Synonymous SNV G99G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.342 258748 chr7 143002094 143002096 AGG - CASP2 E431del 0.001 0 0 0 1 0 0 0 0 0 0 0 258749 chr7 76029641 76029641 T C rs745912872 SSC4D Nonsynonymous SNV N146S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.3 258750 chr7 76941254 76941254 G A rs781129190 GSAP Nonsynonymous SNV R546W 0 0 0 1 0 0 0.003 0 0 0 0 0 19.96 258751 chr17 3422134 3422134 C T rs754268747 TRPV3 Synonymous SNV S607S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.726 258752 chr7 148950701 148950701 C T rs185003508 ZNF212 Nonsynonymous SNV A228V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.933 258753 chr7 73105318 73105318 T C BUD23 Synonymous SNV F145F 0.003 0.008 0 1 4 3 0.003 0 0 0 0 0 1.059 258754 chr17 4442931 4442931 G A rs62620242 MYBBP1A Stop gain Q1256X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 258755 chr17 4446383 4446383 C T rs139594461 MYBBP1A Nonsynonymous SNV R906Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 258756 chr17 4500559 4500559 C T rs8073566 SMTNL2 Synonymous SNV Y400Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.514 258757 chr17 4802778 4802778 G C rs114454383 CHRNE Synonymous SNV S339S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.505 258758 chr17 4858823 4858823 G A rs75748087 ENO3 Synonymous SNV S220S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.23 258759 chr7 1511947 1511947 G A INTS1 Nonsynonymous SNV P2049L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 258760 chr7 4800709 4800709 C G rs149221532 FOXK1 Nonsynonymous SNV P571A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.3 258761 chr17 6545104 6545104 C T rs146489783 TXNDC17 Synonymous SNV H59H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.098 258762 chr17 6899559 6899559 C T rs312467 ALOX12 Synonymous SNV P41P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 258763 chr7 40027572 40027572 G T rs748996479 CDK13 Nonsynonymous SNV G529V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 258764 chr7 4947176 4947176 C A rs376356241 MMD2 Nonsynonymous SNV G222C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258765 chr17 7227500 7227500 G A rs769356241 NEURL4 Synonymous SNV N663N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.889 258766 chr17 7228226 7228226 G A rs754562996 NEURL4 Nonsynonymous SNV R569C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258767 chr17 7290375 7290375 G A rs56159710 TNK1 Synonymous SNV S438S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.451 258768 chr17 7291943 7291943 G C rs80015268 TNK1 Nonsynonymous SNV G571R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.2 258769 chr17 7296182 7296182 G A rs115979758 PLSCR3 Synonymous SNV A30A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 258770 chr17 7411571 7411571 C T POLR2A Nonsynonymous SNV A1081V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 258771 chr17 7480255 7480255 T C rs75736809 SNORD10 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 258772 chr17 7490798 7490798 G A rs16956808 MPDU1 Nonsynonymous SNV G225S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.1 258773 chr17 7506257 7506257 G C rs16956829 FXR2 Synonymous SNV L171L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.62 258774 chr17 7530504 7530504 G A rs34780532 SAT2 Synonymous SNV H132H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.93 258775 chr17 7646583 7646583 T C rs73248544 DNAH2 Nonsynonymous SNV L758P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.979 258776 chr7 6194391 6194391 A C USP42 Nonsynonymous SNV Y1069S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.64 258777 chr17 7942516 7942516 G A rs145035264 ALOX15B Nonsynonymous SNV G15R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.937 258778 chr7 4798982 4798982 T C FOXK1 Synonymous SNV P484P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.192 258779 chr7 77885472 77885472 G A rs767352798 MAGI2 Nonsynonymous SNV A612V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 258780 chr17 8193899 8193899 C T rs539860547 SLC25A35 Nonsynonymous SNV R254H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 258781 chr17 8445443 8445443 G A rs34070772 MYH10 Synonymous SNV I519I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.148 258782 chr17 11502023 11502023 C T rs28570215 DNAH9 Nonsynonymous SNV P70S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.8 258783 chr17 11502121 11502121 T C rs28507962 DNAH9 Synonymous SNV F102F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 258784 chr17 11713577 11713577 C T rs61746800 DNAH9 Synonymous SNV S2866S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.67 258785 chr17 12921109 12921109 G A rs375941310 ELAC2 Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.615 258786 chr7 87138646 87138646 A G ABCB1 Nonsynonymous SNV I1145T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 258787 chr17 17053493 17053493 A G rs113803816 MPRIP Synonymous SNV A587A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 258788 chr7 6731265 6731265 C T rs61731527 ZNF12 Synonymous SNV P436P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 258789 chr17 17250199 17250199 C T rs201759301 NT5M Nonsynonymous SNV R209C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 258790 chr17 18039757 18039757 G A rs926074 MYO15A Synonymous SNV T1541T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.19 258791 chr7 80302099 80302099 C G rs200194486 CD36 Nonsynonymous SNV T341S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 258792 chr17 18058461 18058461 G A rs1006770 MYO15A Synonymous SNV T2754T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.985 258793 chr17 18920617 18920617 C T rs79284479 SLC5A10 Nonsynonymous SNV P354L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.561 258794 chr7 98984357 98984357 C T rs144704984 ARPC1B Synonymous SNV S38S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.42 258795 chr8 10623204 10623204 C T PINX1 Nonsynonymous SNV A232T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 258796 chr19 46003757 46003757 T A rs200355710 PPM1N Synonymous SNV V367V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.145 258797 chr19 46265047 46265047 - TCCAGCTCCAGCTCCAGCTCCAGC BHMG1 S465_E466insSSSSSSSS 0 0 0 1 0 0 0.003 0 0 0 0 0 258798 chr19 46281018 46281018 C T rs754630789 DMPK Synonymous SNV A174A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 258799 chr8 102701548 102701548 C T rs558028083 NCALD Nonsynonymous SNV G191S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 258800 chr17 27447701 27447701 G T MYO18A Nonsynonymous SNV T554N 0.001 0 0 0 1 0 0 0 0 0 0 0 27 258801 chr7 935044 935044 C T rs751123335 GET4 Synonymous SNV P323P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.659 258802 chr17 31438957 31438957 G A rs145139925 ASIC2 Synonymous SNV Y228Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 258803 chr17 33463390 33463390 G T rs75635495 NLE1 Nonsynonymous SNV Q27K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.985 258804 chr7 7917092 7917092 T C rs118022796 UMAD1 Nonsynonymous SNV S113P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 258805 chr8 10467622 10467622 T G RP1L1 Nonsynonymous SNV E1329A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.827 258806 chr17 36483593 36483593 C T rs370586289 GPR179 Synonymous SNV E1953E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.626 258807 chr17 36484141 36484141 C T rs767762847 GPR179 Nonsynonymous SNV A1771T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 258808 chr17 36667126 36667126 C T rs780072130 ARHGAP23 Nonsynonymous SNV P1465L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 258809 chr17 37762841 37762841 G A rs114810359 NEUROD2 Synonymous SNV R4R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.25 258810 chr8 139662017 139662017 A T COL22A1 Nonsynonymous SNV V1113E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.96 258811 chr17 38189659 38189659 C T rs34585432 MED24 Nonsynonymous SNV A191T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.3 258812 chr17 38520007 38520007 C A rs376380005 GJD3 Nonsynonymous SNV V21L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 258813 chr8 125989082 125989082 G C ZNF572 Nonsynonymous SNV G191A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.975 258814 chr17 38955747 38955747 A G rs78372594 KRT28 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.312 258815 chr17 38956024 38956024 G T rs79999354 KRT28 Nonsynonymous SNV A41D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 258816 chr17 38975327 38975327 - AGCCGCCGCC rs764791942 KRT10 Frameshift insertion H487Rfs*97 0.001 0 0 0 1 0 0 0 0 0 0 0 258817 chr17 38975329 38975329 - AGCTT rs762667965 KRT10 Frameshift insertion H487Sfs*134 0.001 0 0 0 1 0 0 0 0 0 0 0 258818 chr8 1857484 1857484 T C rs34319003 ARHGEF10 Nonsynonymous SNV M626T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 0.006 258819 chr8 1905043 1905043 G A ARHGEF10 Nonsynonymous SNV E1179K 0.002 0.005 0 0 2 2 0 0 0 0 0 0 15.41 258820 chr17 39183150 39183150 G C rs12943824 KRTAP1-5 Nonsynonymous SNV C86W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 258821 chr17 39197378 39197378 C T rs35024033 KRTAP1-1 Nonsynonymous SNV C91Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 258822 chr17 39305563 39305563 G A rs71371463 KRTAP4-5 Stop gain R153X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 258823 chr17 39316618 39316618 T C rs75030409 KRTAP4-4 Nonsynonymous SNV Q109R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 258824 chr17 39316741 39316741 G A rs34361798 KRTAP4-4 Nonsynonymous SNV S68F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 258825 chr8 103324041 103324041 C G rs144623404 UBR5 Nonsynonymous SNV Q780H 0.003 0 0 0 3 0 0 0 0 0 0 0 27 258826 chr17 39464594 39464594 A G rs71373406 KRTAP16-1 Synonymous SNV C304C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 258827 chr17 39538442 39538442 C A rs8066866 KRT34 Synonymous SNV R61R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 258828 chr8 144407588 144407588 C T rs762508243 TOP1MT Nonsynonymous SNV R102H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 258829 chr8 145166567 145166567 C T rs1042642143 WDR97 Synonymous SNV D840D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 258830 chr8 145689545 145689545 G A rs543509475 CYHR1 Nonsynonymous SNV R182W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 258831 chr8 3057245 3057245 C G rs369451688 CSMD1 Nonsynonymous SNV V1729L 0.002 0.005 0 0 2 2 0 0 0 0 0 0 19.74 258832 chr8 144945277 144945277 G A rs368889066 EPPK1 Synonymous SNV H715H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.31 258833 chr8 3432586 3432586 T G rs146006696 CSMD1 Synonymous SNV R409R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign 11.06 258834 chr17 42455126 42455126 C T rs114232872 ITGA2B Synonymous SNV K709K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.43 258835 chr17 42457087 42457087 C T rs79289329 ITGA2B Synonymous SNV V616V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.77 258836 chr17 45331284 45331284 G T rs534654534 ITGB3 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.02 258837 chr17 45331285 45331285 C T rs548495900 ITGB3 Synonymous SNV L20L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.83 258838 chr8 145106630 145106630 C T OPLAH Synonymous SNV G1240G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 258839 chr17 46801722 46801722 - G rs199607933 PRAC2 Frameshift insertion C34Wfs*8 0.002 0.003 0 0 2 1 0 0 0 0 0 0 258840 chr17 47583650 47583650 G A rs9898165 LOC100288866 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.982 258841 chr17 47899113 47899113 G A rs146551531 KAT7 Synonymous SNV A280A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.47 258842 chr17 48141956 48141956 T C rs2230391 ITGA3 Synonymous SNV P133P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.203 258843 chr17 48148230 48148230 C T rs61730089 ITGA3 Synonymous SNV R229R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.24 258844 chr17 48151552 48151552 C T rs78768954 ITGA3 Synonymous SNV F430F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.78 258845 chr8 145623077 145623077 C T rs143095025 CPSF1 Synonymous SNV T697T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 258846 chr17 48617647 48617647 C A rs112114033 EPN3 Nonsynonymous SNV L311M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 258847 chr17 48917356 48917356 G A rs564698752 WFIKKN2 Nonsynonymous SNV R143Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22 258848 chr17 55183003 55183003 G A rs2230770 AKAP1 Nonsynonymous SNV V60M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.129 258849 chr17 55183793 55183813 GCTTGGATAGAAATGAGGAGA - rs760786475 AKAP1 S330_E336del 0.002 0 0 0 2 0 0 0 0 0 0 0 258850 chr17 56289780 56289780 T C rs201845569 MKS1 Nonsynonymous SNV K89E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 258851 chr17 56350982 56350982 T C rs141229051 MPO Nonsynonymous SNV M472V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 258852 chr17 56356715 56356715 G A rs766591572 MPO Synonymous SNV F207F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.787 258853 chr17 56387999 56387999 G A rs61745775 TSPOAP1 Synonymous SNV A1131A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 258854 chr17 58232718 58232718 C T rs1050024952 CA4 Synonymous SNV Y34Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.643 258855 chr17 58945949 58945949 G A rs73320618 BCAS3 Synonymous SNV P163P 0.005 0 0 0 6 0 0 0 0 0 0 0 12.51 258856 chr8 56015315 56015315 C G rs774156963 XKR4 Synonymous SNV G89G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.11 258857 chr17 60472551 60472551 T C rs73329490 EFCAB3 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 258858 chr17 61315298 61315298 G C rs759558896 TANC2 Nonsynonymous SNV C224S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 258859 chr17 61611475 61611475 G A rs115048320 KCNH6 Nonsynonymous SNV V302M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 258860 chr17 61611600 61611600 G A rs61743693 KCNH6 Synonymous SNV K343K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.905 258861 chr17 61893018 61893018 G T rs115503884 DDX42 Synonymous SNV L666L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.294 258862 chr17 61898725 61898725 C T rs9908605 FTSJ3 Synonymous SNV E625E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 258863 chr17 61902011 61902011 C T rs9910549 FTSJ3 Synonymous SNV G301G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.06 258864 chr17 62018737 62018737 G A rs59081944 SCN4A Synonymous SNV I1635I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.719 258865 chr17 62080113 62080113 C T rs4886 ICAM2 Synonymous SNV R274R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 258866 chr17 62082686 62082686 C T rs5503 ICAM2 Nonsynonymous SNV A37T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.198 258867 chr17 62126506 62126506 C T rs16947393 ERN1 Synonymous SNV E770E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.57 258868 chr8 25364343 25364343 C T rs73550864 CDCA2 Nonsynonymous SNV R706C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.63 258869 chr17 63898448 63898448 A G rs144307988 CEP112 Nonsynonymous SNV V620A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 258870 chr8 26484767 26484767 G A rs143980725 DPYSL2 Nonsynonymous SNV A298T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 258871 chr17 66416511 66416511 C T rs35268505 ARSG Synonymous SNV N495N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.395 258872 chr17 66914222 66914222 A G rs146446478 ABCA8 Synonymous SNV S631S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.487 258873 chr17 66924074 66924074 A G rs77734018 ABCA8 Nonsynonymous SNV F419S 0.002 0 0 0 2 0 0 0 1 0 0 0 31 258874 chr17 66925840 66925840 G C rs114603216 ABCA8 Synonymous SNV L267L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.938 258875 chr17 66929397 66929397 G C rs142326781 ABCA8 Nonsynonymous SNV T161R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 258876 chr17 67041383 67041383 G A rs78836926 ABCA9 Synonymous SNV T133T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.396 258877 chr17 67082859 67082859 G A rs141744269 ABCA6 Synonymous SNV A1279A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 258878 chr8 30889830 30889830 G A PURG Nonsynonymous SNV P157S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 258879 chr8 37756611 37756611 C T rs917451293 RAB11FIP1 Nonsynonymous SNV D117N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 258880 chr17 68171393 68171393 C T rs150671256 KCNJ2 Synonymous SNV D71D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.914 258881 chr17 68172245 68172245 T G rs139564374 KCNJ2 Synonymous SNV L355L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.014 258882 chr8 37732813 37732813 G A rs763993944 RAB11FIP1 Nonsynonymous SNV T281M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 258883 chr17 71468327 71468327 G A rs116430423 SDK2 Synonymous SNV H85H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.152 258884 chr17 72539027 72539027 T C rs147686810 CD300C Nonsynonymous SNV D167G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.781 258885 chr9 125562864 125562864 G A rs200621911 OR1K1 Nonsynonymous SNV V155I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 258886 chr17 72889676 72889676 G C rs4319809 FADS6 Synonymous SNV P6P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.275 258887 chr17 73094140 73094140 G A rs61738950 SLC16A5 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.581 258888 chr17 73560601 73560601 C T rs78367086 LLGL2 Nonsynonymous SNV S350L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.603 258889 chr17 73565200 73565200 C T rs35991442 LLGL2 Synonymous SNV P488P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 14.68 258890 chr17 73568007 73568007 G A rs144556380 LLGL2 Synonymous SNV A774A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.513 258891 chr17 73625210 73625210 C T rs114003047 RECQL5 Nonsynonymous SNV A765T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.684 258892 chr17 73625231 73625231 G A rs114006902 RECQL5 Nonsynonymous SNV H758Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.37 258893 chr17 73659051 73659051 T C rs78206434 RECQL5 Synonymous SNV L93L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.041 258894 chr17 73760144 73760144 C T rs7211385 GALK1 Synonymous SNV L63L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.736 258895 chr17 73997443 73997443 G A rs2069527 TEN1-CDK3 0.001 0 0 0 1 0 0 0 0 0 0 0 0.919 258896 chr17 74003574 74003574 G A rs114576181 EVPL Synonymous SNV T1926T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.041 258897 chr8 80965611 80965611 G C rs201667286 TPD52 Nonsynonymous SNV L104V 0.004 0 0 1 5 0 0.003 0 0 0 0 0 17.17 258898 chr17 74006079 74006079 G A rs79450818 EVPL Synonymous SNV D1091D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.557 258899 chr17 74006286 74006286 G T rs114287463 EVPL Synonymous SNV V1022V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.591 258900 chr17 74014604 74014604 G A rs116702053 EVPL Synonymous SNV G454G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 258901 chr17 74073355 74073355 A C rs77852923 GALR2 Nonsynonymous SNV E336A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.28 258902 chr17 74099729 74099729 C T rs77288883 EXOC7 Synonymous SNV E15E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 258903 chr17 74382067 74382067 G C rs200800534 SPHK1 Synonymous SNV A4A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.379 258904 chr17 74527206 74527206 G A rs144729546 CYGB Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 258905 chr17 74673702 74673702 C T rs143033560 MXRA7 Nonsynonymous SNV V195M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 258906 chr17 74732598 74732598 G A rs372808564 MIR636 0.001 0 0 0 1 0 0 0 0 0 0 0 7.534 258907 chr17 74944836 74944836 C G rs112517312 MGAT5B Synonymous SNV A774A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 258908 chr17 76045269 76045269 G A rs7223750 TNRC6C Synonymous SNV A42A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 258909 chr17 76046265 76046265 C T rs73999610 TNRC6C Synonymous SNV T374T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.836 258910 chr17 76046726 76046726 A G rs77879497 TNRC6C Nonsynonymous SNV N528S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 258911 chr17 76063842 76063842 A C rs28562067 TNRC6C Synonymous SNV S869S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.737 258912 chr9 136303012 136303012 T C ADAMTS13 Nonsynonymous SNV C527R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 258913 chr9 101006320 101006320 - G rs573723711 TBC1D2 Frameshift insertion A202Cfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 258914 chr9 101990265 101990265 T C rs748344740 SEC61B Synonymous SNV D62D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.94 258915 chr17 76565267 76565267 T C rs61747155 DNAH17 Nonsynonymous SNV Q422R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 258916 chr17 76565607 76565607 T C rs116436885 DNAH17 Synonymous SNV T349T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 258917 chr17 77710962 77710962 G A rs373017788 ENPP7 Synonymous SNV E383E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 258918 chr17 77812985 77812985 G T rs377266074 CBX4 Synonymous SNV R22R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.768 258919 chr9 119858342 119858342 G A rs56355255 ASTN2 Synonymous SNV R368R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.94 258920 chr17 77983988 77983988 G A rs149833287 TBC1D16 Synonymous SNV R250R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.083 258921 chr17 77984008 77984008 C T rs144832549 TBC1D16 Nonsynonymous SNV A244T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 258922 chr17 77984252 77984252 C T rs115353540 TBC1D16 Synonymous SNV E162E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.177 258923 chr17 78032408 78032408 C T rs145013523 CCDC40 Synonymous SNV A425A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.86 258924 chr17 78039374 78039374 G A rs59978698 CCDC40 Nonsynonymous SNV E511K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 29.5 258925 chr17 78041446 78041446 G A rs7221235 CCDC40 Nonsynonymous SNV G569S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.371 258926 chr17 78055521 78055521 A G rs200815406 CCDC40 Nonsynonymous SNV Q580R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 258927 chr17 78111941 78111941 C T rs35229151 EIF4A3 Synonymous SNV K289K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.19 258928 chr17 78155422 78155422 G A rs115582620 CARD14 Nonsynonymous SNV R62Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.483 258929 chr17 78180849 78180849 C T rs146356100 CARD14 Synonymous SNV H924H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.55 258930 chr17 78197061 78197061 G A rs143511610 SLC26A11 Synonymous SNV L146L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.76 258931 chr17 78393285 78393285 G C rs1048604585 MIR4730 0.001 0 0 0 1 0 0 0 0 0 0 0 1.359 258932 chr20 44664515 44664515 G A SLC12A5 Nonsynonymous SNV A150T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 258933 chr17 78972902 78972902 C T rs35687235 CHMP6 Synonymous SNV N185N 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 11.04 258934 chr17 79104943 79104943 C T rs55665131 AATK Synonymous SNV T84T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 258935 chr9 139964730 139964730 C G SAPCD2 Synonymous SNV A61A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.37 258936 chr17 79358755 79358755 C G rs80029463 LOC100130370 0.001 0 0 0 1 0 0 0 0 0 0 0 0.921 258937 chr17 79358834 79358834 T C rs114561146 LOC100130370 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 258938 chr17 79657721 79657721 C T rs138643449 HGS Synonymous SNV D162D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 258939 chr17 79898979 79898979 G A rs189201910 MYADML2 Synonymous SNV A213A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.77 258940 chr17 79899260 79899260 C T rs374053976 MYADML2 Nonsynonymous SNV A120T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.053 258941 chr17 79985920 79985920 G A rs147028558 LRRC45 Synonymous SNV S315S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 258942 chr17 80040895 80040895 T C rs2228307 FASN Nonsynonymous SNV I1888V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 258943 chr17 80195390 80195390 C T rs61742925 SLC16A3 Synonymous SNV F248F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 258944 chr17 80280196 80280196 C T rs61744493 SECTM1 Synonymous SNV A196A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 258945 chr17 80320462 80320462 C - rs555486603 TEX19 W147Gfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 258946 chr20 57289675 57289675 C T rs368776742 NPEPL1 Synonymous SNV F454F 0 0 0 2 0 0 0.005 0 0 0 0 0 11.71 258947 chr18 3456395 3456395 C T rs145725785 TGIF1 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.84 258948 chr18 6890043 6890043 A G rs73386355 ARHGAP28 Nonsynonymous SNV I406V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 258949 chr18 6966296 6966296 G A rs73390557 LAMA1 Synonymous SNV S2300S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 258950 chr18 6978233 6978233 C T rs145781920 LAMA1 Nonsynonymous SNV R2051Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.013 258951 chr18 7014006 7014006 A G rs9953287 LAMA1 Synonymous SNV D1057D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.023 258952 chr20 61958152 61958152 C A COL20A1 Nonsynonymous SNV P1169T 0 0 0 3 0 0 0.008 0 0 0 0 0 15.66 258953 chr18 9254720 9254720 C T rs76038781 ANKRD12 Synonymous SNV N462N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.01 258954 chr20 62178460 62178460 C T rs765182956 SRMS 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 258955 chr18 11876675 11876675 G C rs143519580 GNAL Synonymous SNV R122R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 258956 chr20 62325821 62325821 C T rs756579704 RTEL1 Nonsynonymous SNV S807L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.82 258957 chr18 13012979 13012979 T C rs567783897 CEP192 Synonymous SNV P158P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 258958 chr18 13012980 13012980 A T rs538516598 CEP192 Nonsynonymous SNV I159F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.364 258959 chr9 18681857 18681857 C T rs764928759 ADAMTSL1 Synonymous SNV C463C 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 13.9 258960 chr20 62595718 62595718 A G ZNF512B Nonsynonymous SNV F430L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 258961 chr20 62715283 62715283 G A rs1042301722 LKAAEAR1 Nonsynonymous SNV T97M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 258962 chr20 62598862 62598862 G A rs762571743 ZNF512B Nonsynonymous SNV R46C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 258963 chr9 113168906 113168906 T G SVEP1 Nonsynonymous SNV N2992H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 258964 chr18 20570935 20570935 G A rs61759887 RBBP8 Synonymous SNV E281E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.438 258965 chr18 21109145 21109145 G A rs34222289 RMC1 Synonymous SNV A276A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.614 258966 chr18 21484598 21484598 C T rs35872318 LAMA3 Synonymous SNV A520A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.93 258967 chr18 22057204 22057204 C G rs58154316 HRH4 Nonsynonymous SNV S196C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21 258968 chr18 23619344 23619344 C T rs7240260 SS18 Synonymous SNV Q228Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.21 258969 chr18 29205701 29205701 T C B4GALT6 Nonsynonymous SNV K303R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 258970 chr9 117568286 117568286 C T rs371110841 TNFSF15 Nonsynonymous SNV E3K 0.003 0 0 0 3 0 0 0 0 0 0 0 14.41 258971 chr18 34349252 34349252 G C rs145954630 FHOD3 Nonsynonymous SNV G1350A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 258972 chr18 46190896 46190896 G A rs139411437 CTIF Synonymous SNV Q135Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 258973 chr18 47322207 47322207 G C rs147179328 ACAA2 Synonymous SNV T119T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.281 258974 chr18 47421325 47421325 C T rs201592338 MYO5B Nonsynonymous SNV D1011N 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.13 258975 chr18 50592418 50592418 A T rs111544101 DCC Synonymous SNV G381G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.28 258976 chr18 51750581 51750581 - GCT rs748114311 MBD2 S116_G117insS 0.001 0 0 0 1 0 0 0 0 0 0 0 258977 chr18 56058768 56058768 G A rs115364125 NEDD4L Synonymous SNV E793E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.52 258978 chr18 56149109 56149109 G A rs61743671 ALPK2 Synonymous SNV N2153N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.36 258979 chr9 35042278 35042278 T C rs764741774 C9orf131 Synonymous SNV L9L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 258980 chr18 61060749 61060749 G A rs142404608 VPS4B Nonsynonymous SNV L376F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 258981 chr9 35906583 35906583 - CCACCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA HRCT1 H105_P106insHHHHPHHTPHHLHHHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 258982 chr18 63477218 63477218 C G rs7235166 CDH7 Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.55 258983 chr18 66504078 66504078 C T rs61998185 CCDC102B Synonymous SNV R26R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.724 258984 chr18 67671432 67671432 A G rs35558429 RTTN Synonymous SNV Y1300Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 258985 chr18 67688013 67688013 A G rs34749812 RTTN Synonymous SNV P1085P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.004 258986 chr18 67725017 67725017 C G rs34041767 RTTN Synonymous SNV L752L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.286 258987 chr18 67871492 67871492 G A rs114765225 RTTN Nonsynonymous SNV P76L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 258988 chr9 35906586 35906586 - CCACCACCACCACCCCCACCACCACCCCCGCCACACCCCTCACCACCT HRCT1 H107_R108insHHPRHTPHHLHHHHPH 0 0.005 0 0 0 2 0 0 0 1 0 0 258989 chr18 72010811 72010811 G A rs114501185 C18orf63 Synonymous SNV S284S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 258990 chr18 72020558 72020558 G A rs79487804 C18orf63 Synonymous SNV K352K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.929 258991 chr9 17795588 17795588 A T SH3GL2 Nonsynonymous SNV E302D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 258992 chr18 72245458 72245458 G A rs142187241 CNDP1 Nonsynonymous SNV A355T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 258993 chr18 72247447 72247447 C T rs78491213 CNDP1 Nonsynonymous SNV P417S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.7 258994 chr9 37740153 37740153 G A rs573473533 FRMPD1 Nonsynonymous SNV R543H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.356 258995 chr18 72344002 72344002 G A rs115368653 ZNF407 Nonsynonymous SNV E343K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.96 258996 chr18 72347547 72347547 T G rs114095914 ZNF407 Synonymous SNV T1524T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.294 258997 chr18 74092213 74092213 G A rs17059304 ZNF516 Synonymous SNV T619T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.779 258998 chr18 74649161 74649161 A G rs374106321 ZNF236 Synonymous SNV P1548P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.039 258999 chr18 74672690 74672690 G A rs200337889 ZNF236 Synonymous SNV A1766A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.78 259000 chr18 74680199 74680199 G A rs200551781 ZNF236 Synonymous SNV P1816P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.248 259001 chr18 76856649 76856649 - TTGCT ATP9B Frameshift insertion C100Ffs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 259002 chr18 76856651 76856651 - GGTTGGCTGATAAATATTTGTCGAAGAAAGAAAGAGCTGAAAGCTCGCACAGTATGGC ATP9B 0.001 0 0 0 1 0 0 0 0 0 0 0 259003 chr18 77170569 77170569 G A rs2230113 NFATC1 Synonymous SNV A98A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.621 259004 chr18 77679327 77679327 G A rs34425104 SLC66A2 Synonymous SNV G137G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.537 259005 chr9 32542913 32542913 G C rs764570718 TOPORS Nonsynonymous SNV S472C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22 259006 chr19 436224 436224 G A rs139489974 SHC2 Synonymous SNV F298F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 259007 chr19 519324 519324 C T rs564681989 TPGS1 Synonymous SNV R258R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.23 259008 chr9 79324774 79324774 C T rs375315668 PRUNE2 Nonsynonymous SNV E806K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 259009 chr9 34506768 34506768 C T rs776084634 DNAI1 Nonsynonymous SNV H407Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.28 259010 chr19 691951 691951 C G rs149163441 PRSS57 Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.62 259011 chr19 813869 813869 C G rs115968959 PLPPR3 Nonsynonymous SNV Q314H 0.002 0 0 0 2 0 0 0 1 0 0 0 23.6 259012 chr9 372194 372194 A T rs372858877 DOCK8 Nonsynonymous SNV I605F 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.3 259013 chr19 871044 871044 G A rs34859566 MED16 Nonsynonymous SNV L770F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.101 259014 chr19 885908 885908 G A rs116674441 MED16 Synonymous SNV S247S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 259015 chr19 990891 990891 C T rs35068100 WDR18 Nonsynonymous SNV L213F 0.002 0 0 0 2 0 0 0 0 0 0 0 17.85 259016 chr19 1005427 1005427 C T rs78844421 GRIN3B Nonsynonymous SNV R643C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 259017 chr19 1009527 1009527 C T rs191196970 GRIN3B Nonsynonymous SNV R1020W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 259018 chr19 1012559 1012559 G A rs61743931 TMEM259 Synonymous SNV D207D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.243 259019 chr22 24581118 24581118 A G SUSD2 Nonsynonymous SNV D280G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 259020 chr9 5921977 5921979 GTT - rs779787620 KIAA2026 T1342del 0.001 0 0 0 1 0 0 0 0 0 0 0 259021 chr10 101596038 101596038 C G rs372032261 ABCC2 Nonsynonymous SNV T1202S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.673 259022 chr9 75782421 75782421 G A rs141810071 ANXA1 Nonsynonymous SNV A271T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 259023 chr19 1089523 1089523 T C POLR2E Nonsynonymous SNV T106A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 259024 chr19 1109322 1109322 G A rs11880694 SBNO2 Nonsynonymous SNV A1049V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 259025 chr19 1119106 1119106 G A rs11878817 SBNO2 Synonymous SNV I420I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 259026 chrX 11157158 11157158 C T rs745356331 ARHGAP6 Nonsynonymous SNV R737Q 0.002 0 0 0 2 0 0 0 1 0 0 0 6.916 259027 chr10 105209522 105209522 C T rs754595150 CALHM2 Synonymous SNV A59A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 259028 chr19 1465793 1465793 G A rs780627166 APC2 Synonymous SNV K830K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.39 259029 chr22 28194969 28194969 G A rs377548418 MN1 Synonymous SNV S521S 0 0 0 5 0 0 0.013 0 0 0 0 0 1.11 259030 chr19 1621894 1621894 T C rs145095368 TCF3 Nonsynonymous SNV T300A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.004 259031 chr19 1783160 1783160 C T rs78153786 ATP8B3 Nonsynonymous SNV R1220H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 259032 chr22 30767953 30767954 TG - rs531291137 KIAA1656 0 0 0 5 0 0 0.013 0 0 0 0 0 259033 chr19 1796869 1796869 A C rs200011518 ATP8B3 Nonsynonymous SNV Y485D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 259034 chrX 108691392 108691392 C T rs139373641 GUCY2F Nonsynonymous SNV R492H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 259035 chr9 84228372 84228372 G A rs144027618 TLE1 Nonsynonymous SNV T338M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 259036 chr22 30772477 30772500 CAGCCCTGCACATCCCCACCTCGG - rs566846265 CCDC157 P690_P697del 0.002 0 0 6 2 0 0.015 0 0 0 0 0 259037 chr9 79320449 79320449 G A rs41288769 PRUNE2 Synonymous SNV D2247D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.325 259038 chr19 1912770 1912770 A G rs116296830 ADAT3 Nonsynonymous SNV M226V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.3 259039 chr19 1912900 1912900 A C rs146212621 ADAT3 Nonsynonymous SNV D269A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.22 259040 chr19 1923151 1923151 G A rs765222246 SCAMP4 Nonsynonymous SNV V116M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.155 259041 chr9 26935169 26935169 C G rs769736071 PLAA Nonsynonymous SNV S62T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 259042 chrX 138699734 138699734 C T rs61752695 MCF2 Nonsynonymous SNV E274K 0.003 0.003 0.007 0 4 1 0 2 2 0 1 0 Benign 27.4 259043 chr19 2978249 2978249 G T rs190951421 TLE6 Nonsynonymous SNV Q6H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.167 259044 chr19 3011108 3011108 C T rs188348314 TLE2 Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 259045 chr22 33673170 33673170 C T rs73399520 LARGE1 Nonsynonymous SNV R650Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign/Likely benign 23.3 259046 chr19 3573792 3573792 G A rs111334655 HMG20B Synonymous SNV E47E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 259047 chr19 3611885 3611885 C T rs139837460 CACTIN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.434 259048 chr19 3611920 3611920 G A rs74321041 CACTIN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.354 259049 chr19 3641792 3641792 T C rs60418344 PIP5K1C Synonymous SNV P566P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 259050 chr19 3728464 3728464 G A rs138247981 TJP3 Nonsynonymous SNV A12T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 259051 chr19 3738644 3738644 C T rs61729585 TJP3 Nonsynonymous SNV T459M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 259052 chr19 3740740 3740740 G C rs146122641 TJP3 Nonsynonymous SNV E608Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 259053 chr19 3982850 3982850 G A rs34017760 EEF2 Synonymous SNV I189I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 12.87 259054 chr19 4012971 4012971 C T rs61729790 PIAS4 Synonymous SNV F26F 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 14.2 259055 chrX 153222829 153222829 G A rs200081632 HCFC1 Synonymous SNV P763P 0.002 0 0 1 2 0 0.003 0 1 0 0 0 Likely benign 4.862 259056 chr19 4210088 4210088 C A rs149534927 ANKRD24 Nonsynonymous SNV P302T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 259057 chr19 4210090 4210090 C G rs200235218 ANKRD24 Synonymous SNV P302P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 259058 chr19 4216314 4216314 C T rs145484612 ANKRD24 Nonsynonymous SNV P435L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 259059 chrX 153281987 153281987 G A rs781954872 IRAK1 Synonymous SNV A379A 0.002 0 0 1 2 0 0.003 0 1 0 0 0 7.006 259060 chrX 21674602 21674602 C T rs752005728 KLHL34 Synonymous SNV A435A 0.002 0 0 0 2 0 0 0 1 0 0 0 3.614 259061 chr9 5920667 5920667 T C rs750880514 KIAA2026 Nonsynonymous SNV I1777V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 259062 chr19 4504617 4504617 C T PLIN4 Nonsynonymous SNV E1324K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 259063 chrX 117679329 117679329 A G rs377007516 DOCK11 Nonsynonymous SNV I146V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 259064 chr19 4504702 4504702 G A rs752867164 PLIN4 Synonymous SNV P1295P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 259065 chr19 4511609 4511609 G C rs115045260 PLIN4 Nonsynonymous SNV T788S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 259066 chrX 119582909 119582909 T C rs138374063 LAMP2 Nonsynonymous SNV T158A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.176 259067 chr19 4511757 4511757 C T rs74627313 PLIN4 Nonsynonymous SNV G739S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.56 259068 chrX 120181916 120181916 C T rs761891817 GLUD2 Synonymous SNV D126D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 259069 chr19 4512114 4512114 T C rs141457177 PLIN4 Nonsynonymous SNV M620V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 259070 chr19 4512685 4512685 - AGGACAGTCTTACTGGTGTCCACGCCGGTCTG PLIN4 Stop gain T430Rfs*11 0.002 0 0 0 2 0 0 0 1 0 0 0 259071 chr19 4513148 4513148 A G rs375161179 PLIN4 Nonsynonymous SNV V275A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.541 259072 chr19 4684046 4684046 C T rs111521912 DPP9-AS1 0.002 0 0 0 2 0 0 0 1 0 0 0 5.054 259073 chr19 5214486 5214486 C T rs61729768 PTPRS Synonymous SNV K1053K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 259074 chr19 5222822 5222822 G A rs370623380 PTPRS Nonsynonymous SNV A972V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.338 259075 chr19 5824320 5824320 C T rs61731573 NRTN Synonymous SNV D48D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.43 259076 chrX 128650466 128650466 G A SMARCA1 Synonymous SNV D90D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.894 259077 chrX 130407781 130407781 C T rs200440710 IGSF1 Nonsynonymous SNV V1325I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 259078 chr10 103345860 103345860 G A rs61757734 POLL Nonsynonymous SNV R57W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 259079 chr9 87486726 87486726 C T rs200409673 NTRK2 Synonymous SNV T536T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.28 259080 chr19 6583330 6583330 T C rs142340418 CD70 Nonsynonymous SNV N203S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 259081 chrX 132161911 132161911 C A rs150401753 USP26 Nonsynonymous SNV G113V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.013 259082 chr19 6713511 6713511 G A rs2230200 C3 Synonymous SNV Y261Y 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign 0.106 259083 chr19 7141795 7141795 G A rs149536206 INSR Nonsynonymous SNV H847Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.431 259084 chr19 7437912 7437912 G A rs8101182 ARHGEF18 Nonsynonymous SNV R77Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 259085 chr10 135182465 135182465 T C rs375032130 ECHS1 Nonsynonymous SNV Q159R 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 18.33 259086 chr19 7505111 7505111 G A rs17159563 ARHGEF18 Synonymous SNV L41L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.976 259087 chr19 7528777 7528777 C T rs79442325 ARHGEF18 Synonymous SNV S661S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.787 259088 chr10 105890028 105890028 G A rs762601780 CFAP43 Nonsynonymous SNV R1623W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 259089 chr19 7600855 7600855 G C rs112732576 PNPLA6 Nonsynonymous SNV V61L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.783 259090 chr19 7691061 7691061 G A rs61186298 XAB2 Synonymous SNV D206D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.526 259091 chr19 7709583 7709583 G A rs76836497 STXBP2 Synonymous SNV A394A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.58 259092 chr22 50659047 50659047 G A rs147606883 TUBGCP6 Synonymous SNV D1247D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6 259093 chr19 7914022 7914022 C T rs554853 EVI5L Synonymous SNV N181N 0.002 0 0 0 2 0 0 0 1 0 0 0 8.928 259094 chr19 7965228 7965228 G T rs112260910 LRRC8E Synonymous SNV L478L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 259095 chr19 7982478 7982478 C G rs181559352 TGFBR3L Nonsynonymous SNV P240A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 259096 chr19 8145904 8145904 T C rs150979548 FBN3 Nonsynonymous SNV H2479R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.393 259097 chr19 8186212 8186212 C T rs114688628 FBN3 Synonymous SNV T1047T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 259098 chr19 8466991 8466991 C T rs2230875 RAB11B Synonymous SNV G86G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.81 259099 chrX 38031228 38031228 C T rs141477282 SRPX Synonymous SNV E124E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 259100 chr19 8563284 8563284 G T rs73499687 PRAM1 Synonymous SNV R470R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.676 259101 chr19 8575639 8575639 G A rs376259901 ZNF414 Nonsynonymous SNV P370L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 259102 chr10 27692246 27692246 C T PTCHD3 Nonsynonymous SNV G418R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 259103 chrX 68060138 68060138 G A rs766378296 EFNB1 Nonsynonymous SNV G228R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 259104 chr19 9049745 9049745 G A rs115307391 MUC16 Nonsynonymous SNV A10629V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.92 259105 chrX 49087726 49087726 C T CACNA1F Nonsynonymous SNV V107M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 259106 chr19 9059114 9059114 T G rs151078525 MUC16 Synonymous SNV S9444S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.262 259107 chr10 46967544 46967544 G A rs202105571 LOC102724488, SYT15 Nonsynonymous SNV S62L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 259108 chr19 9065404 9065404 T C rs74729485 MUC16 Nonsynonymous SNV T7348A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259109 chr10 115401191 115401191 C T rs138124439 NRAP Nonsynonymous SNV R384H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.74 259110 chr10 13325838 13325838 C G rs995220629 PHYH Nonsynonymous SNV G139A 0.002 0 0 0 2 0 0 0 0 0 0 0 31 259111 chr10 115958994 115958994 C G TDRD1 Synonymous SNV S149S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 259112 chr19 9226075 9226075 C T rs140073167 OR7G1 Nonsynonymous SNV R122H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 259113 chrX 85218950 85218950 G A rs149749273 CHM Nonsynonymous SNV T141M 0.002 0 0 3 2 0 0.008 0 1 0 0 1 0.076 259114 chr10 134648231 134648231 G A rs150554348 CFAP46 Nonsynonymous SNV L2265F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 259115 chr19 9490771 9490771 A G rs115385615 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV M98V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259116 chr10 121590991 121590991 G A rs771643333 MCMBP Nonsynonymous SNV L640F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 259117 chr19 10108793 10108793 G A rs140498565 COL5A3 Synonymous SNV P381P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 259118 chr19 10127866 10127866 T C rs2233793 RDH8 Synonymous SNV C79C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.252 259119 chr10 123724884 123724884 C T rs143064887 NSMCE4A Nonsynonymous SNV G224R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 259120 chr19 10132275 10132275 G A rs2233797 RDH8 Synonymous SNV S262S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.189 259121 chr10 13699409 13699409 C A rs561372148 FRMD4A Nonsynonymous SNV S418I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 259122 chr19 10370310 10370310 A G rs77884668 MRPL4 Nonsynonymous SNV M253V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 259123 chrX 107976003 107976003 T - IRS4 N1191Tfs*49 0 0 0 1 0 0 0.003 0 0 0 0 0 259124 chr10 105199624 105199624 C T rs113940597 PDCD11 Nonsynonymous SNV R1383C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 259125 chr19 10689606 10689606 C T rs369863783 AP1M2 Nonsynonymous SNV E286K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 259126 chrX 47041221 47041221 C G RBM10 Nonsynonymous SNV P473R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.31 259127 chr19 10870442 10870442 G A rs144250390 DNM2 Nonsynonymous SNV V64I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 259128 chr19 11022898 11022898 G A rs139174396 CARM1 Synonymous SNV S199S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 259129 chr19 11144082 11144082 G A rs61761957 SMARCA4 Synonymous SNV K1221K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.1 259130 chr19 11152039 11152039 A G rs61761958 SMARCA4 Synonymous SNV S1379S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.134 259131 chr10 126312137 126312137 C T rs375361851 FAM53B Nonsynonymous SNV A315T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.154 259132 chr19 11447932 11447932 A C rs34053641 RAB3D Synonymous SNV T48T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.159 259133 chr19 11456004 11456004 C A rs142797501 TMEM205 Nonsynonymous SNV G63V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 259134 chr10 21177118 21177118 T C rs762884881 NEBL Nonsynonymous SNV I93V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.006 259135 chr10 63852190 63852190 G C ARID5B Nonsynonymous SNV E747Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 259136 chr19 11475282 11475282 C T rs148808067 PLPPR2 Synonymous SNV Y400Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.425 259137 chr19 11577026 11577026 G A rs61741718 ELAVL3 Synonymous SNV N98N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.982 259138 chr19 11978130 11978130 A G rs10417222 ZNF439 Synonymous SNV T82T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.012 259139 chr19 11978898 11978898 T C rs113442649 ZNF439 Synonymous SNV L202L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.792 259140 chr10 27009194 27009194 T G PDSS1 Nonsynonymous SNV I172S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 259141 chr19 12187244 12187246 ATC - ZNF844 I437del 0.001 0 0 0 1 0 0 0 0 0 0 0 259142 chr19 12383526 12383526 C T rs61737485 ZNF44 Nonsynonymous SNV R483H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 259143 chr19 12799142 12799142 G A rs114872706 GNG14 Nonsynonymous SNV A94T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.184 259144 chr19 12902941 12902941 G A rs199665194 JUNB Nonsynonymous SNV G119E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 259145 chr19 12992143 12992143 G T rs562700068 DNASE2 Nonsynonymous SNV A16D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 259146 chr10 30318033 30318033 C T rs558801103 JCAD Synonymous SNV S348S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 259147 chr19 13318283 13318283 G T rs16057 CACNA1A Synonymous SNV P2455P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.606 259148 chr10 118313243 118313243 C T rs757210059 PNLIP Nonsynonymous SNV A155V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.41 259149 chr10 120789813 120789815 CCG - rs587777032 NANOS1 A173del 0.001 0 0 0 1 0 0 0 0 0 0 0 259150 chr19 14079434 14079434 G A rs148533868 RFX1 Nonsynonymous SNV P559S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.38 259151 chr19 14165971 14165971 G C rs189106911 PALM3 Synonymous SNV P105P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.18 259152 chr19 14184442 14184442 G A rs58659592 MISP3 Synonymous SNV A107A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 259153 chr19 14218631 14218631 G A rs571993209 PRKACA Stop gain R56X 0.001 0 0 0 1 0 0 0 0 0 0 0 9.056 259154 chr19 14272301 14272301 G A rs376920609 ADGRL1 Synonymous SNV L445L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.27 259155 chr19 14523988 14523988 T C rs112820981 DDX39A Synonymous SNV E15E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.85 259156 chr1 15855757 15855757 G A DNAJC16 Nonsynonymous SNV A53T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 32 259157 chr19 14582584 14582584 C T rs56119754 PKN1 Synonymous SNV A939A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.35 259158 chr10 75139806 75139806 T C rs916719025 ANXA7 Nonsynonymous SNV M318V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 259159 chr19 14591211 14591211 C T rs148903990 GIPC1 Synonymous SNV L90L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.58 259160 chr10 43595977 43595977 G A rs759872307 RET Synonymous SNV T48T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.099 259161 chr10 15107693 15107693 A C rs138794004 OLAH Nonsynonymous SNV E171D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.956 259162 chr10 46970653 46970653 C T LOC102724488 Nonsynonymous SNV G54S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.91 259163 chr10 19820145 19820145 C T MALRD1 Synonymous SNV Y1781Y 0.002 0 0 0 2 0 0 0 0 0 0 0 12.8 259164 chr10 87373336 87373336 C A rs375855339 GRID1 Nonsynonymous SNV R810L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 259165 chr1 1231867 1231867 G A rs370009609 ACAP3 Synonymous SNV D425D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.968 259166 chr19 15564060 15564060 C T rs138850805 RASAL3 Nonsynonymous SNV S843N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 259167 chr19 15566950 15566950 G A rs113585379 RASAL3 Synonymous SNV C562C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 259168 chr19 15794349 15794349 G T rs140521349 CYP4F12 Nonsynonymous SNV V232L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.994 259169 chr19 15794352 15794352 G C rs144487735 CYP4F12 Nonsynonymous SNV E233Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 259170 chr19 15794354 15794354 G A rs199600076 CYP4F12 Synonymous SNV E233E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 259171 chr19 15794362 15794362 G A rs201990535 CYP4F12 Nonsynonymous SNV S236N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259172 chr19 15794379 15794379 C T rs61731192 CYP4F12 Nonsynonymous SNV H242Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 259173 chr19 15794415 15794415 C T rs61731190 CYP4F12 Nonsynonymous SNV R254W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 259174 chr1 2702556 2702556 G A rs565594654 TTC34 Synonymous SNV T629T 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.475 259175 chr19 15795690 15795690 G C rs61729079 CYP4F12 Nonsynonymous SNV G328A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259176 chr1 35227534 35227534 C T rs185327282 GJB4 Nonsynonymous SNV R227W 0.002 0 0 0 2 0 0 0 0 0 0 0 23 259177 chr1 36563954 36563954 G A rs747108574 COL8A2 Nonsynonymous SNV A378V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.81 259178 chr10 29747232 29747232 T C SVIL Nonsynonymous SNV N1771D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.23 259179 chr10 134723491 134723491 C T rs371159931 CFAP46 Nonsynonymous SNV A861T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 259180 chr19 16268425 16268425 C T rs113641420 HSH2D Synonymous SNV A268A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.173 259181 chr1 3425699 3425699 C T rs371301618 MEGF6 Nonsynonymous SNV V490I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.087 259182 chr1 39878956 39878956 G T rs377275372 KIAA0754 Nonsynonymous SNV V1007L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.57 259183 chr19 16899864 16899864 C A rs114371613 NWD1 Nonsynonymous SNV H729N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 259184 chr19 17316136 17316136 C T rs61734358 MYO9B Synonymous SNV Y1685Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.7 259185 chr1 9324523 9324523 C T rs149691469 H6PD Synonymous SNV H668H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.263 259186 chr19 17337066 17337066 C A rs116007369 OCEL1 Nonsynonymous SNV P4T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.082 259187 chr1 10683165 10683165 C A rs145867351 PEX14 Nonsynonymous SNV S158R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 24.8 259188 chr1 25785372 25785372 C T rs758837559 MACO1 Synonymous SNV D381D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.97 259189 chr19 17533171 17533171 G A rs34949802 MVB12A Nonsynonymous SNV C106Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 259190 chr19 17654420 17654420 C T rs10401716 NIBAN3 Nonsynonymous SNV L269F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 259191 chr19 18180396 18180396 G A rs17882216 IL12RB1 Synonymous SNV C383C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.332 259192 chr19 18193060 18193060 G A rs17887176 IL12RB1 Nonsynonymous SNV P47S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 259193 chr19 18277080 18277080 C T rs146837517 PIK3R2 Synonymous SNV F509F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.51 259194 chr10 27326859 27326859 C T ANKRD26 Nonsynonymous SNV E833K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 259195 chr19 18330144 18330144 C T rs34503849 PDE4C Nonsynonymous SNV R58Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.62 259196 chr1 15438832 15438837 TGTGTG - TMEM51-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 259197 chr19 18368412 18368412 C T rs112108230 IQCN Nonsynonymous SNV A1228T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.347 259198 chr19 18368533 18368533 G T rs112806595 IQCN Nonsynonymous SNV H1187Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.929 259199 chr1 14105269 14105269 T G PRDM2 Nonsynonymous SNV S126A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 259200 chr19 18530494 18530494 C T rs28485917 SSBP4 Synonymous SNV P12P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.59 259201 chr19 18542165 18542165 C - rs760883618 SSBP4 G127Afs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 259202 chr19 18542166 18542166 C T SSBP4 Nonsynonymous SNV P125S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 259203 chr10 52601702 52601702 A G rs141891504 A1CF Synonymous SNV N95N 0.002 0 0 0 2 0 0 0 0 0 0 0 7.034 259204 chr19 18778239 18778239 C T rs149771993 KLHL26 Nonsynonymous SNV L99F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.524 259205 chr1 34049352 34049352 T C CSMD2 Nonsynonymous SNV Q2377R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 259206 chr19 18895132 18895132 G A rs10421797 COMP Synonymous SNV N652N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.72 259207 chr10 5496260 5496260 T C rs12263049 NET1 Synonymous SNV C213C 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 1.122 259208 chr19 19015624 19015624 C A rs1039069805 COPE Nonsynonymous SNV A128S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 259209 chr1 16256696 16256696 G A rs781238166 SPEN Nonsynonymous SNV A1321T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 259210 chr10 5567142 5567142 G C rs2231420 CALML3 Nonsynonymous SNV E32Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 259211 chr1 35251111 35251111 G A GJB3 Nonsynonymous SNV E250K 0.003 0 0 0 3 0 0 0 0 0 0 0 14.61 259212 chr19 19033442 19033442 G A rs35802425 DDX49 Nonsynonymous SNV R222H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 259213 chr19 19035488 19035488 C T rs36076210 DDX49 Synonymous SNV I303I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.3 259214 chr19 19039030 19039030 C T rs36078704 DDX49 Stop gain R453X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 259215 chr1 16456721 16456721 C T rs142789236 EPHA2 Nonsynonymous SNV R836H 0 0 0 2 0 0 0.005 0 0 0 0 0 25.9 259216 chr19 19232449 19232449 C T rs142963150 TMEM161A Nonsynonymous SNV V126M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 259217 chr19 19407883 19407883 C A rs115426450 SUGP1 Synonymous SNV R386R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 259218 chr1 16558771 16558771 C T rs755166081 CPLANE2 Synonymous SNV T183T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.956 259219 chr19 19729375 19729375 C T rs370270980 PBX4 Nonsynonymous SNV V22I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.667 259220 chr19 19744918 19744918 C T rs781015469 GMIP Synonymous SNV P693P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.359 259221 chr10 61112100 61112100 C T FAM13C Nonsynonymous SNV G85D 0.002 0 0 0 2 0 0 0 0 0 0 0 31 259222 chr19 20308398 20308398 C T rs372994294 ZNF486 Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.146 259223 chr1 18152597 18152597 G A rs146517291 ACTL8 Synonymous SNV Q228Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.163 259224 chr10 93668691 93668691 C T FGFBP3 Synonymous SNV P12P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 259225 chr1 42049501 42049501 C T rs201803042 HIVEP3 Nonsynonymous SNV R323H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.46 259226 chr19 32945905 32945905 A G rs8105178 DPY19L3 Nonsynonymous SNV M350V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.686 259227 chr1 21041998 21041998 G A rs367797736 KIF17 Synonymous SNV F122F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.267 259228 chr19 33072213 33072213 G A rs75015964 PDCD5 Nonsynonymous SNV E16K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 259229 chr19 33106600 33106600 C T rs78841410 ANKRD27 Synonymous SNV P713P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.05 259230 chr10 96802684 96802684 G T CYP2C8 Nonsynonymous SNV T269N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.43 259231 chr19 33247965 33247965 C T rs75257288 TDRD12 Nonsynonymous SNV P265L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.61 259232 chr19 33617599 33617599 G A rs16967824 GPATCH1 Nonsynonymous SNV E909K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.99 259233 chr19 35449651 35449651 C T rs116046572 ZNF792 Nonsynonymous SNV D370N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 259234 chr1 22446726 22446726 C T rs770489893 WNT4 Synonymous SNV T291T 0 0 0 2 0 0 0.005 0 0 0 0 0 15.54 259235 chr1 22920110 22920110 G A rs756044795 EPHA8 Nonsynonymous SNV V512I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.55 259236 chr1 47882440 47882440 C G rs759858665 FOXE3 Synonymous SNV A151A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.07 259237 chr1 92642932 92642932 A G KIAA1107 Nonsynonymous SNV R215G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.74 259238 chr11 119228466 119228466 C T rs755216327 USP2 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 259239 chr1 94047994 94047994 G C rs752519228 BCAR3 Nonsynonymous SNV P193R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 259240 chr1 94354671 94354671 T C rs776192297 GCLM Nonsynonymous SNV I212V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.852 259241 chr1 28806971 28806971 G A rs200581707 PHACTR4 Nonsynonymous SNV A549T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 259242 chr1 29063648 29063648 C G rs199887916 YTHDF2 Nonsynonymous SNV L6V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.111 259243 chr1 35227137 35227137 C T rs528006662 GJB4 Synonymous SNV H94H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.12 259244 chr10 95137125 95137125 G A rs367618675 MYOF Nonsynonymous SNV A675V 0.002 0 0 0 2 0 0 0 0 0 0 0 22 259245 chr11 102464198 102464198 G A rs150191942 MMP20 Nonsynonymous SNV L407F 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.7 259246 chr19 39006807 39006807 A G rs199738299 RYR1 Nonsynonymous SNV E3212G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 259247 chr10 97370000 97370000 G A rs374052426 ALDH18A1 Synonymous SNV F508F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.82 259248 chr1 67845746 67845746 A G rs372136510 IL12RB2 Nonsynonymous SNV T513A 0.003 0 0 0 4 0 0 0 0 0 0 0 27.6 259249 chr1 41536332 41536332 G A rs770058667 SCMH1 Nonsynonymous SNV P179L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 259250 chr19 40357477 40357477 G A rs115392675 FCGBP Nonsynonymous SNV A5279V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 259251 chr1 36563620 36563620 G A rs753604558 COL8A2 Synonymous SNV A489A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.981 259252 chr19 40362875 40362875 C T rs78168032 FCGBP Synonymous SNV A5065A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 259253 chr19 40366430 40366430 G A rs147753846 FCGBP Nonsynonymous SNV P4602S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 259254 chr1 36893930 36893930 C A rs115388124 OSCP1 Nonsynonymous SNV W221C 0 0 0 1 0 0 0.003 0 0 0 0 0 7.127 259255 chr10 99400762 99400762 C A PI4K2A Nonsynonymous SNV A88D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.74 259256 chr10 85956276 85956276 C T CDHR1 Nonsynonymous SNV T56I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 259257 chr19 41089556 41089556 C T rs114170090 SHKBP1 Synonymous SNV S366S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 259258 chr19 41306810 41306810 C T rs10417139 EGLN2 Synonymous SNV G111G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.67 259259 chr19 41762376 41762376 G T AXL Nonsynonymous SNV V418L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 259260 chr19 42260579 42260579 G A rs145334885 CEACAM6 Nonsynonymous SNV A46T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.511 259261 chr11 113235651 113235651 C G rs145338802 TTC12 Nonsynonymous SNV N612K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.104 259262 chr11 116729221 116729221 G A rs369719459 SIK3 Nonsynonymous SNV P879L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 259263 chr11 117109766 117109766 T C RNF214 Nonsynonymous SNV V186A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.355 259264 chr1 47685515 47685515 G A rs758587375 TAL1 Synonymous SNV C132C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.859 259265 chr1 47903918 47903918 G A FOXD2 Synonymous SNV G37G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.483 259266 chr1 47904167 47904167 G A rs145909683 FOXD2 Synonymous SNV A120A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.114 259267 chr11 118223131 118223131 C A rs201529449 CD3G Synonymous SNV R166R 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 20.9 259268 chr11 102477407 102477407 C T MMP20 Nonsynonymous SNV G271E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 259269 chr11 119050765 119050765 C G rs200846476 NLRX1 Nonsynonymous SNV L679V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 259270 chr11 119181832 119181832 C G rs370970803 MCAM Nonsynonymous SNV S538T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 259271 chr19 45323979 45323979 G A rs748680179 BCAM Nonsynonymous SNV G594E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.546 259272 chr1 54670828 54670828 C T rs201357587 MRPL37 Nonsynonymous SNV R162C 0 0 0 1 0 0 0.003 0 0 0 0 0 25 259273 chr19 45659154 45659154 C T rs142428545 NKPD1 Nonsynonymous SNV V184I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 259274 chr11 123598247 123598247 C A ZNF202 Nonsynonymous SNV V73F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 259275 chr19 45971941 45971941 G A rs28381241 FOSB Nonsynonymous SNV G33S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.2 259276 chr19 45989011 45989011 G A rs148630935 RTN2 Synonymous SNV A191A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.29 259277 chr19 46032673 46032673 C T rs140959406 OPA3 Nonsynonymous SNV G62S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 259278 chr1 67705926 67705926 T A IL23R Synonymous SNV L370L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.699 259279 chr19 46215395 46215395 C A rs192506598 FBXO46 Synonymous SNV S453S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.63 259280 chr19 46216664 46216664 C T rs368353647 FBXO46 Synonymous SNV A30A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.278 259281 chr19 46260520 46260520 G A rs531279224 BHMG1 Nonsynonymous SNV E333K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 259282 chr19 46265047 46265047 - TCCAGCTCCAGC BHMG1 S465_E466insSSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 259283 chr1 74670743 74670743 T G rs745470256 FPGT Nonsynonymous SNV F351V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 259284 chr19 46313994 46313994 A G rs111424410 RSPH6A Nonsynonymous SNV F252S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 259285 chr1 155178925 155178925 G - MTX1 I112Sfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 259286 chr1 75606764 75606764 A G LHX8 Nonsynonymous SNV D111G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 259287 chr19 47226434 47226434 C T rs10409124 STRN4 Nonsynonymous SNV V575I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 259288 chr19 47226450 47226450 A G rs28684509 STRN4 Synonymous SNV C569C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.443 259289 chr19 48048563 48048563 G A rs550450779 ZNF541 Nonsynonymous SNV P408L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 259290 chr1 156552908 156552908 C T rs759594338 TTC24 Nonsynonymous SNV H329Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 259291 chr19 48184370 48184370 C T rs563305326 BICRA Nonsynonymous SNV P648L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 259292 chr19 48205347 48205347 C G rs527395477 BICRA Nonsynonymous SNV A1453G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 259293 chr11 2992723 2992723 C T rs765797044 NAP1L4 Synonymous SNV A119A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.54 259294 chr11 3050680 3050680 A G rs779043574 CARS-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 1.591 259295 chr11 102480697 102480697 T C MMP20 Synonymous SNV G196G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.159 259296 chr1 77672330 77672330 A G rs148725038 PIGK Synonymous SNV P78P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.939 259297 chr1 158724692 158724692 G A rs138864853 OR6K6 Synonymous SNV T29T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.34 259298 chr11 1271809 1271809 G A rs2334756 MUC5B Nonsynonymous SNV A4567T 0.004 0.003 0 0 5 1 0 0 0 0 0 0 6.108 259299 chr11 1272258 1272258 C T rs535420854 MUC5B Synonymous SNV P4716P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.806 259300 chr11 4567140 4567140 C A rs61734243 OR52M1 Synonymous SNV T240T 0 0 0.003 3 0 0 0.008 1 0 0 0 0 14.72 259301 chr19 50098868 50098868 G T PRR12 Nonsynonymous SNV A426S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 259302 chr1 109192855 109192855 T C rs777422098 HENMT1 Nonsynonymous SNV H245R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 259303 chr11 17408546 17408546 G A rs758749160 KCNJ11 Nonsynonymous SNV R365C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.9 259304 chr11 128359360 128359360 A T rs533877788 ETS1 Nonsynonymous SNV H76Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 259305 chr11 128426228 128426228 C G rs200879741 ETS1 Nonsynonymous SNV A58P 0.002 0 0 0 2 0 0 0 0 0 0 0 21 259306 chr1 109268501 109268501 A G rs771190246 FNDC7 Nonsynonymous SNV H329R 0 0 0 2 0 0 0.005 0 0 0 0 0 20.5 259307 chr11 132290136 132290136 C G rs762217627 OPCML Nonsynonymous SNV C230S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.14 259308 chr11 2920783 2920783 T G SLC22A18AS Nonsynonymous SNV Q50P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 259309 chr11 18955412 18955412 T C rs138752944 MRGPRX1 Nonsynonymous SNV Q307R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 259310 chr1 118558666 118558666 G A rs146386019 SPAG17 Synonymous SNV I1403I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.35 259311 chr11 18955413 18955413 G A rs140371088 MRGPRX1 Stop gain Q307X 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 259312 chr1 119575687 119575687 C T rs139467678 WARS2 Synonymous SNV V310V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12 259313 chr11 3688917 3688917 G C CHRNA10 Nonsynonymous SNV P147R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 259314 chr1 120345602 120345602 A G rs371663045 REG4 Nonsynonymous SNV V85A 0 0 0 2 0 0 0.005 0 0 0 0 0 3.572 259315 chr1 152732566 152732566 C T rs759736213 KPRP Nonsynonymous SNV R168C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.052 259316 chr1 166960704 166960704 A G rs753338076 MAEL Synonymous SNV K74K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.337 259317 chr11 126134397 126134397 C T SRPRA Synonymous SNV T493T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 259318 chr19 55494951 55494951 T C rs147213467 NLRP2 Nonsynonymous SNV S607P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 259319 chr11 130773199 130773199 C T rs750093549 SNX19 Nonsynonymous SNV E182K 0.002 0 0 0 2 0 0 0 0 0 0 0 35 259320 chr11 1491579 1491579 G A rs10219175 MOB2 Synonymous SNV Y210Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.214 259321 chr1 154224064 154224064 G A rs748293198 UBAP2L Synonymous SNV E533E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.224 259322 chr1 154574703 154574703 G C ADAR Nonsynonymous SNV Q139E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 6.804 259323 chr11 17518327 17518327 G T rs761342832 USH1C Nonsynonymous SNV P523T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 259324 chr1 155258194 155258194 C A HCN3 Synonymous SNV P755P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 259325 chr11 19209774 19209774 G A rs368392588 CSRP3 Nonsynonymous SNV R64C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.6 259326 chr11 396919 396919 G T PKP3 Nonsynonymous SNV G140C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 259327 chr1 156784883 156784883 C T rs370660402 SH2D2A Stop gain W57X 0 0 0 2 0 0 0.005 0 0 0 0 0 33 259328 chr1 169483672 169483672 T C rs6679078 F5 Nonsynonymous SNV K2185R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.58 259329 chr1 169505792 169505792 G A rs116809837 F5 Synonymous SNV L1641L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.12 259330 chr1 169512199 169512199 T C rs115954845 F5 Nonsynonymous SNV H710R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.001 259331 chr1 170136881 170136881 A G rs61747972 METTL11B Nonsynonymous SNV S279G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.356 259332 chr1 197128598 197128598 C T rs771999895 ZBTB41 Nonsynonymous SNV R874Q 0.002 0 0 0 2 0 0 0 0 0 0 0 33 259333 chr1 225533723 225533723 A T DNAH14 Nonsynonymous SNV N3580Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.3 259334 chr11 5776368 5776368 G A rs202069164 OR52N4 Nonsynonymous SNV R133H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.243 259335 chr1 160011296 160011296 G A rs753333164 KCNJ10 Nonsynonymous SNV R343C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 259336 chr1 160144008 160144008 C T rs897568304 ATP1A4 Nonsynonymous SNV S700F 0 0 0 1 0 0 0.003 0 0 0 0 0 33 259337 chr1 176563778 176563778 C T rs200764889 PAPPA2 Synonymous SNV R346R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.445 259338 chr20 239917 239917 C T rs570313579 DEFB132 Synonymous SNV D86D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.017 259339 chr20 590413 590413 C T rs114812106 TCF15 Nonsynonymous SNV G157S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 259340 chr11 5842498 5842498 T C rs372689870 OR52N2 Synonymous SNV L311L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.087 259341 chr20 1143797 1143797 T C rs79465651 PSMF1 Nonsynonymous SNV V104A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.72 259342 chr20 1285983 1285983 C T rs73579357 SNPH Nonsynonymous SNV A257V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 259343 chr20 1294049 1294049 G A rs35578871 SDCBP2 Nonsynonymous SNV R22C 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 35 259344 chr1 165652343 165652343 C T rs118096304 ALDH9A1 Nonsynonymous SNV R111Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 259345 chr20 2376080 2376080 C A rs73894929 TGM6 Nonsynonymous SNV A141E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 15.38 259346 chr20 3652835 3652835 A G rs615436 ADAM33 Nonsynonymous SNV W515R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.03 259347 chr20 3682284 3682284 C T rs61736339 SIGLEC1 Synonymous SNV P411P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 259348 chr20 4163461 4163461 C T rs1741326 SMOX Synonymous SNV A445A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.02 259349 chr20 4705431 4705431 C T rs146380946 PRND Synonymous SNV Y78Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 259350 chr20 4712992 4712992 C T rs112048434 PRNT 0.001 0 0 0 1 0 0 0 0 0 0 0 5.494 259351 chr20 4713379 4713379 C T rs7271315 PRNT 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.647 259352 chr11 5153487 5153487 C T OR52A5 Nonsynonymous SNV C129Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 259353 chr1 220197745 220197745 A G rs767163148 EPRS1 Synonymous SNV Y268Y 0.004 0 0 0 5 0 0 0 0 0 0 0 3.109 259354 chr20 19665877 19665877 G A rs75574349 SLC24A3 Nonsynonymous SNV R399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 259355 chr11 640100 640147 GCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG - DRD4 Q287_P302del 0 0 0 1 0 0 0.003 0 0 0 0 0 259356 chr20 23350984 23350984 C A rs138617042 GZF1 Nonsynonymous SNV P666T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.68 259357 chr1 200376376 200376376 T G rs375360921 ZNF281 Nonsynonymous SNV I820L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.707 259358 chr20 24944580 24944580 G A rs28364786 APMAP Nonsynonymous SNV R374W 0.001 0 0 0 1 0 0 0 0 0 0 0 26 259359 chr20 25273088 25273088 C T rs138320949 PYGB Synonymous SNV T672T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.63 259360 chr11 55419129 55419129 C T rs778723023 OR4S2 Synonymous SNV G250G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.36 259361 chr20 25491329 25491329 A G rs35764557 NINL Synonymous SNV N166N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.457 259362 chr1 225528361 225528361 G T DNAH14 Stop gain E3546X 0.004 0 0 0 5 0 0 0 0 0 0 0 43 259363 chr20 29965196 29965196 C T rs144077858 DEFB119 Synonymous SNV R36R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 259364 chr20 30193550 30193550 C T ID1 Synonymous SNV G120G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.031 259365 chr20 31022766 31022766 G A rs6058693 ASXL1 Nonsynonymous SNV V690I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 259366 chr20 31878815 31878815 A G rs34578060 BPIFB1 Nonsynonymous SNV T140A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 259367 chr11 58377809 58377809 - A rs199991349 ZFP91 0.001 0 0 0 1 0 0 0 0 0 0 0 259368 chr20 32295687 32295687 G A rs35264133 PXMP4 Nonsynonymous SNV P155L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.196 259369 chr20 32354676 32354676 G A rs149946526 ZNF341 Synonymous SNV P324P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 259370 chr20 32354733 32354733 G A rs150939868 ZNF341 Synonymous SNV P343P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 259371 chr20 32693333 32693333 T C rs760482846 EIF2S2 Nonsynonymous SNV M12V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 259372 chr11 56086258 56086258 T C rs149126730 OR8K3 Nonsynonymous SNV V159A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.015 259373 chr11 6555163 6555163 A G rs143239025 DNHD1 Nonsynonymous SNV S920G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 259374 chr1 203680186 203680186 G A rs147729934 ATP2B4 Nonsynonymous SNV E661K 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 23.1 259375 chr20 35399559 35399559 T C rs34428971 DSN1 Synonymous SNV Q8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.305 259376 chr20 35421808 35421808 T C rs34041166 SOGA1 Synonymous SNV P1559P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 259377 chr20 35421952 35421952 T C rs34241250 SOGA1 Synonymous SNV L1511L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.38 259378 chr20 35422141 35422141 A G rs34182670 SOGA1 Synonymous SNV S1448S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259379 chr20 35422369 35422369 C A rs35565287 SOGA1 Synonymous SNV T1372T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 259380 chr20 35422699 35422699 G C rs61732362 SOGA1 Synonymous SNV L1262L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.667 259381 chr20 35422792 35422792 C G rs34459518 SOGA1 Nonsynonymous SNV Q1231H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.46 259382 chr20 36560076 36560076 C T rs138420536 VSTM2L Nonsynonymous SNV T54M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 259383 chr20 39831348 39831348 C T rs34073395 ZHX3 Nonsynonymous SNV A737T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 259384 chr20 40081451 40081451 G A rs76234859 CHD6 Synonymous SNV R1084R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.12 259385 chr20 40739068 40739068 G A rs111792993 PTPRT Synonymous SNV H1053H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.8 259386 chr20 40757444 40757444 C G rs73909220 PTPRT Nonsynonymous SNV V933L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.76 259387 chr20 41385235 41385235 C T rs34099024 PTPRT Synonymous SNV V242V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.17 259388 chr20 42788766 42788766 A G rs558770240 JPH2 Nonsynonymous SNV F221L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 259389 chr1 207297621 207297621 C T rs201003117 C4BPA Nonsynonymous SNV R206C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 259390 chr1 207649609 207649609 C T rs61754517 CR2 Nonsynonymous SNV T857I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.137 259391 chr1 208224628 208224628 C T rs561631648 PLXNA2 Nonsynonymous SNV R1045H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 259392 chr20 44190769 44190769 A G rs79465015 WFDC8 Nonsynonymous SNV M39T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259393 chr20 44650470 44650470 G A rs537209632 SLC12A5 Synonymous SNV E22E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 259394 chr11 7059980 7059980 C A NLRP14 Synonymous SNV R55R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.48 259395 chr20 45700877 45700877 G A rs149600847 EYA2 Nonsynonymous SNV G157R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 259396 chr20 45878167 45878167 C G rs137982512 ZMYND8 Nonsynonymous SNV E474D 0.003 0.003 0 2 4 1 0.005 0 0 0 0 0 11.5 259397 chr20 48522378 48522378 G A rs36117834 SPATA2 Synonymous SNV H447H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 259398 chr20 52192308 52192308 A C rs61758384 ZNF217 Nonsynonymous SNV C999G 0.001 0 0 0 1 0 0 0 0 0 0 0 22 259399 chr20 52198619 52198619 C A rs78786003 ZNF217 Synonymous SNV A249A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 259400 chr20 52675251 52675251 T C rs151035253 BCAS1 Nonsynonymous SNV N3D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 259401 chr11 64847073 64847073 G A rs747808569 CDCA5 Nonsynonymous SNV R144C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 259402 chr20 55948719 55948719 C T rs61733433 RAE1 Synonymous SNV P250P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.507 259403 chr20 56073644 56073644 C T rs28472888 CTCFL Nonsynonymous SNV V652M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 1.385 259404 chr20 56138695 56138695 C T rs28359547 PCK1 Synonymous SNV T291T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.03 259405 chr2 37121075 37121075 A C rs762948833 STRN Nonsynonymous SNV N299K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.79 259406 chr20 57829527 57829527 C T rs116281545 ZNF831 Nonsynonymous SNV T1588M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.202 259407 chr20 57896231 57896231 A G rs34780366 EDN3 Synonymous SNV Q175Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.214 259408 chr20 60074545 60074545 G T rs560532547 CDH4 Stop gain E19X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.702 259409 chr1 226342393 226342393 G C rs377129629 ACBD3 Nonsynonymous SNV L349V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.083 259410 chr11 65545378 65545378 G A rs371791187 AP5B1 Synonymous SNV A862A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.976 259411 chr20 60747782 60747782 G A rs36106901 SS18L1 Nonsynonymous SNV A321T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.471 259412 chr11 6555162 6555162 A C rs1039102431 DNHD1 Nonsynonymous SNV K919N 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 259413 chr11 65631188 65631188 C T rs759906850 MUS81 Synonymous SNV D319D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.664 259414 chr11 65655877 65655877 G A FIBP Synonymous SNV L5L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.51 259415 chr20 60913152 60913152 C T rs548771198 LAMA5 Nonsynonymous SNV R604H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 259416 chr11 66391883 66391883 G A RBM14 Nonsynonymous SNV G179D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.593 259417 chr20 61468557 61468557 G A rs116005499 COL9A3 Nonsynonymous SNV A576T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.6 259418 chr20 61591931 61591931 T - rs144534537 SLC17A9 I158Tfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 259419 chr20 61834284 61834284 C T rs34046235 YTHDF1 Synonymous SNV A336A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.007 259420 chr11 67266090 67266090 G A rs61749182 PITPNM1 Synonymous SNV A487A 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 11.01 259421 chr20 61834536 61834536 G A rs79046601 YTHDF1 Synonymous SNV S252S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.772 259422 chr20 61834707 61834707 G A rs115419512 YTHDF1 Synonymous SNV V195V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.057 259423 chr11 67290798 67290798 G - CABP2 P5Hfs*14 0.002 0 0 0 2 0 0 0 0 0 0 0 259424 chr20 61869949 61869949 C G rs6011693 BIRC7 Nonsynonymous SNV A187G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.843 259425 chr1 235543384 235543384 C T rs143317838 TBCE Nonsynonymous SNV A7V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.359 259426 chr20 62324328 62324328 G C rs61736614 RTEL1 Nonsynonymous SNV E718D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.1 259427 chr11 96117467 96117467 G C rs17851661 CCDC82 Nonsynonymous SNV Q149E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 259428 chr11 69934032 69934032 G A rs201150364 ANO1 Nonsynonymous SNV V95I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 259429 chr20 62493904 62493904 T C rs76855528 ABHD16B Synonymous SNV G337G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 259430 chr20 62654228 62654228 C G PRPF6 Nonsynonymous SNV T589S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 259431 chr20 62669738 62669738 T C rs186127752 C20orf204 Synonymous SNV A123A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.344 259432 chr11 61188979 61188979 A T rs765968768 CPSF7 Synonymous SNV P52P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 259433 chr20 62839620 62839620 C A rs77452040 MYT1 Nonsynonymous SNV H357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.138 259434 chr21 16338236 16338236 A T rs140653587 NRIP1 Nonsynonymous SNV C760S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 259435 chr21 27107251 27107251 C G rs71649640 ATP5PF Nonsynonymous SNV G6R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 259436 chr21 28214238 28214238 T C rs77718820 ADAMTS1 Synonymous SNV R383R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.075 259437 chr11 62376890 62376890 C T EML3 Nonsynonymous SNV G233S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 259438 chr21 31852450 31852450 C T rs34407570 KRTAP19-1 Nonsynonymous SNV G63R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 259439 chr21 31864263 31864263 C A rs75692404 KRTAP19-3 Nonsynonymous SNV G5C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 259440 chr21 31869210 31869210 C T rs112505623 KRTAP19-4 Synonymous SNV E73E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.35 259441 chr21 31914013 31914013 G A rs115563631 KRTAP19-6 Nonsynonymous SNV S47L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.472 259442 chr21 31962649 31962649 G A rs78392137 KRTAP22-2 Synonymous SNV C15C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.177 259443 chr21 31971075 31971075 - A rs113674499 KRTAP6-2 Frameshift insertion Y40Lfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 259444 chr21 33318439 33318439 G A rs16988660 HUNK Synonymous SNV L234L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.477 259445 chr21 33679033 33679033 C T rs139673653 MRAP Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11 259446 chr21 33692879 33692879 A G rs375456657 URB1 Synonymous SNV Y1852Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.767 259447 chr11 63531586 63531586 G A rs549520004 C11orf95 Synonymous SNV P503P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.159 259448 chr21 33867473 33867473 C T rs61739732 EVA1C Synonymous SNV Y150Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.93 259449 chr21 33949136 33949136 G A rs76713800 C21orf59-TCP10L, TCP10L Nonsynonymous SNV A199V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.636 259450 chr11 63987913 63987913 G A rs72920390 FERMT3 Synonymous SNV Q439Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 7.519 259451 chr21 34721475 34721475 C A rs72552386 IFNAR1 Synonymous SNV T289T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.78 259452 chr21 34889723 34889723 G A rs59920090 GART Nonsynonymous SNV A632V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 259453 chr11 65386288 65386288 A C rs375633475 PCNX3 Synonymous SNV P485P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 259454 chr11 65409939 65409939 G A rs371973588 SIPA1 Synonymous SNV R271R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.739 259455 chr21 35275907 35275907 T C rs75701641 ATP5PO Nonsynonymous SNV I189V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 259456 chr2 97351843 97351843 G A rs368217243 FER1L5 Nonsynonymous SNV V688M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 259457 chr21 36042994 36042994 G C rs61731615 CLIC6 Nonsynonymous SNV R436P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 259458 chr21 37785557 37785557 C T rs114018584 CHAF1B Synonymous SNV H479H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 259459 chr11 64786145 64786145 C A ARL2 Nonsynonymous SNV S93R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 259460 chr21 38605694 38605694 G A rs145630556 VPS26C Nonsynonymous SNV T86I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 259461 chr11 88242467 88242467 C T rs200232107 GRM5 Nonsynonymous SNV G946S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.091 259462 chr11 88242621 88242621 C T rs79345134 GRM5 Synonymous SNV G894G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.38 259463 chr11 6636546 6636546 C T rs577520250 TPP1 Synonymous SNV T427T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.67 259464 chr21 41142892 41142892 T A rs11908882 IGSF5 Nonsynonymous SNV N156K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.18 259465 chr11 66478058 66478058 C T rs150080880 SPTBN2 Synonymous SNV P356P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.6 259466 chr21 42694962 42694962 C T rs149282476 FAM3B Synonymous SNV I44I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 259467 chr21 42809045 42809045 G A rs17000915 MX1 Synonymous SNV S134S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.181 259468 chr21 42815731 42815731 G A rs62623435 MX1 Nonsynonymous SNV G316R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.6 259469 chr21 42861487 42861487 A T rs147711290 TMPRSS2 Nonsynonymous SNV L128Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 259470 chr2 27465608 27465608 G C rs61737365 CAD Nonsynonymous SNV V2052L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.71 259471 chr11 92570895 92570895 A G rs149957554 FAT3 Nonsynonymous SNV T3431A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 259472 chr21 43362322 43362322 C T rs58190987 C2CD2 Synonymous SNV P104P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.75 259473 chr2 110372360 110372360 G C SOWAHC Nonsynonymous SNV Q98H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.771 259474 chr21 43496358 43496358 T C rs56704754 UMODL1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 259475 chr21 43531012 43531012 C T rs553173917 UMODL1 Synonymous SNV G560G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 259476 chr11 6806290 6806290 T A OR2AG1 Nonsynonymous SNV L8M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 259477 chr21 43852217 43852217 C T rs140960464 UBASH3A Synonymous SNV T354T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.91 259478 chr2 113999205 113999205 C T rs201093713 PAX8 Nonsynonymous SNV E234K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 22.7 259479 chr12 101016068 101016068 G A rs117541078 GAS2L3 Nonsynonymous SNV E222K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 259480 chr12 101016071 101016071 G A rs117065230 GAS2L3 Nonsynonymous SNV D223N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 259481 chr21 45217973 45217973 C T rs58028593 RRP1 Nonsynonymous SNV P268L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.087 259482 chr21 45457724 45457724 A G rs114309802 TRAPPC10 Synonymous SNV Q67Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.254 259483 chr11 6977370 6977370 T G ZNF215 Nonsynonymous SNV F150V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 259484 chr21 45712896 45712896 G A rs61737006 AIRE Synonymous SNV S372S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.135 259485 chr21 45739281 45739281 C T rs112356907 PFKL Synonymous SNV A370A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.91 259486 chr21 45742848 45742848 C T rs61737074 PFKL Synonymous SNV T471T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.314 259487 chr2 37284622 37284622 T A rs145612545 HEATR5B Synonymous SNV G687G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 259488 chr2 128050267 128050267 C G ERCC3 Synonymous SNV G130G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 259489 chr21 46057949 46057949 C T rs78352751 KRTAP10-10 Synonymous SNV P205P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.502 259490 chr2 37443301 37443301 C T rs772577413 CEBPZ Nonsynonymous SNV D788N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.76 259491 chr21 46057952 46057952 C A rs74701761 KRTAP10-10 Synonymous SNV V206V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.652 259492 chr21 46058043 46058043 C T rs77109703 KRTAP10-10 Nonsynonymous SNV R237C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 259493 chr2 24302375 24302375 G C rs145078765 TP53I3 Stop gain S252X 0 0 0 2 0 0 0.005 0 0 0 0 0 37 259494 chr2 128892520 128892520 A G rs765220024 UGGT1 Nonsynonymous SNV N523S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 259495 chr21 46117608 46117608 T C rs59935070 KRTAP10-12 Synonymous SNV P164P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 259496 chr11 73020113 73020113 G A rs199593211 ARHGEF17 Nonsynonymous SNV D144N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 259497 chr11 69063680 69063680 C T rs146188808 MYEOV Nonsynonymous SNV R197W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.015 259498 chr21 46924384 46924384 G A rs187721798 COL18A1 Nonsynonymous SNV G1108R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 26.1 259499 chr21 46930091 46930091 C T rs114276639 COL18A1 Synonymous SNV R1380R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 259500 chr21 46932212 46932212 C T rs61735035 COL18A1 Nonsynonymous SNV S1484L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 259501 chr21 47334423 47334423 G A rs147448164 PCBP3 Nonsynonymous SNV V226I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.125 259502 chr21 47535816 47535816 G A rs61735835 COL6A2 Nonsynonymous SNV E278K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.2 259503 chr21 47545889 47545889 C G rs61735829 COL6A2 Synonymous SNV R720R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.35 259504 chr12 106850923 106850923 G T POLR3B Synonymous SNV G709G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.483 259505 chr21 47552389 47552389 G A rs35139588 COL6A2 Nonsynonymous SNV A995T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.4 259506 chr12 132401053 132401053 C T rs150547984 ULK1 Synonymous SNV D663D 0 0 0 2 0 0 0.005 0 0 0 0 0 8.888 259507 chr21 47721946 47721946 G A rs75421562 C21orf58 Synonymous SNV P206P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 259508 chr21 47734777 47734777 G A rs56036022 C21orf58 Synonymous SNV D48D 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.1 259509 chr12 109192925 109192925 C T rs142210173 SSH1 Synonymous SNV S411S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 259510 chr21 47836174 47836174 C A rs761778263 PCNT Synonymous SNV S1996S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.497 259511 chr21 47851602 47851602 G C rs35557109 PCNT Nonsynonymous SNV E2624Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.67 259512 chr22 17600420 17600420 C A rs184892903 TMEM121B Nonsynonymous SNV G533V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 259513 chr2 61412973 61412973 G C AHSA2P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.129 259514 chr22 18304878 18304878 T C rs964764125 MICAL3 Synonymous SNV P1122P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.474 259515 chr2 37395082 37395082 C T rs769339489 SULT6B1 Nonsynonymous SNV G303D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 259516 chr22 19340928 19340928 G A rs34000365 HIRA Synonymous SNV H933H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.02 259517 chr2 66666731 66666731 T C MEIS1-AS2 0 0 0 1 0 0 0.003 0 0 0 0 0 13.64 259518 chr11 76922235 76922235 G A MYO7A Synonymous SNV T2030T 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.47 259519 chr12 116422120 116422120 G A rs530432287 MED13L Nonsynonymous SNV R1466C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.9 259520 chr12 117157594 117157594 G A rs758256986 C12orf49 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 259521 chr22 21083611 21083611 G A rs113882528 PI4KA Synonymous SNV L1527L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.28 259522 chr22 21084220 21084220 G A rs113584704 PI4KA Synonymous SNV Y1425Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.567 259523 chr12 25259905 25259905 G C rs141572576 LRMP Nonsynonymous SNV E393Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25 259524 chr22 22221680 22221680 C T rs200497005 MAPK1 Synonymous SNV Q17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 259525 chr22 22285616 22285616 C T rs116487364 PPM1F Synonymous SNV A265A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 259526 chr12 120634612 120634614 CTC - RPLP0 E306del 0.001 0 0 0 1 0 0 0 0 0 0 0 259527 chr2 86683984 86683984 T C rs752967332 KDM3A Synonymous SNV D246D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 5.119 259528 chr12 29631859 29631859 G A OVCH1 Synonymous SNV I374I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.105 259529 chr22 22892490 22892490 T C rs61730836 PRAME Nonsynonymous SNV N188S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 259530 chr22 22893392 22893392 C G rs61730835 PRAME Nonsynonymous SNV L31F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 259531 chr22 23523969 23523969 G A rs34437269 BCR Synonymous SNV L274L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.575 259532 chr22 24034352 24034352 G A rs142856756 RGL4 Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.112 259533 chr22 24224974 24224974 G A rs36015336 SLC2A11 Nonsynonymous SNV R301Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.484 259534 chr2 74594957 74594957 T C DCTN1 Nonsynonymous SNV K550E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 259535 chr22 24452773 24452773 A G rs141732499 CABIN1 Synonymous SNV K354K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.126 259536 chr12 122400033 122400033 A G rs201175916 WDR66 Synonymous SNV K819K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.599 259537 chr22 24628161 24628161 G A rs73396312 GGT5 Synonymous SNV N127N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.893 259538 chr12 45173655 45173655 C G NELL2 Nonsynonymous SNV L162F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 259539 chr22 24810534 24810534 C T rs61736714 SPECC1L Synonymous SNV P165P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.48 259540 chr22 25246287 25246287 C G rs6004318 SGSM1 Nonsynonymous SNV L115V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.495 259541 chr22 25270441 25270441 G C rs116017106 SGSM1 Nonsynonymous SNV V451L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 259542 chr22 26164390 26164390 G A rs56195244 MYO18B Synonymous SNV K169K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.013 259543 chr22 26224922 26224922 A G rs61738745 MYO18B Nonsynonymous SNV Q989R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.67 259544 chr22 26242096 26242096 G A rs35252978 MYO18B Nonsynonymous SNV R1134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 259545 chr22 26272270 26272270 A G rs695633 MYO18B Nonsynonymous SNV I1400V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.522 259546 chr22 26743866 26743866 A T rs116806899 SEZ6L Synonymous SNV P798P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.392 259547 chr22 26884079 26884079 A T rs200032711 SRRD Nonsynonymous SNV H112L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 259548 chr12 48723829 48723829 G A rs147957264 H1-7 Nonsynonymous SNV R252Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.65 259549 chr12 125441411 125441411 T G DHX37 Nonsynonymous SNV Q760P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 259550 chr2 103121726 103121726 G A rs369636879 SLC9A4 Nonsynonymous SNV A332T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 28.4 259551 chr12 49087273 49087273 C T rs909900930 CCNT1 Nonsynonymous SNV G575E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.445 259552 chr22 30803579 30803579 A G rs77995868 SEC14L2 Nonsynonymous SNV H83R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.004 259553 chr2 71361156 71361156 C G rs143555311 MPHOSPH10 Nonsynonymous SNV H283D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.16 259554 chr12 13140126 13140126 C T rs780620747 HEBP1 Nonsynonymous SNV V120I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 259555 chr12 132624220 132624220 C T rs200730907 DDX51 Nonsynonymous SNV R645Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.27 259556 chr22 31285136 31285136 T C rs12166521 LOC107985544 0.001 0 0 0 1 0 0 0 0 0 0 0 5.085 259557 chr22 31289923 31289923 C T rs34929946 OSBP2 Synonymous SNV D314D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.9 259558 chr2 190044238 190044238 C A COL5A2 Nonsynonymous SNV E31D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.172 259559 chr22 31335967 31335967 T A rs16989204 MORC2 Synonymous SNV G322G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.504 259560 chr12 133277864 133277864 A G PXMP2 Nonsynonymous SNV K143R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.35 259561 chr12 133384809 133384809 G A rs7299219 GOLGA3 Synonymous SNV S282S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 9.334 259562 chr22 31854566 31854566 C T rs143389379 EIF4ENIF1 Synonymous SNV A123A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 259563 chr22 32003931 32003931 C G rs61730168 SFI1 Synonymous SNV V667V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 259564 chr22 32109142 32109142 C T rs116769557 PRR14L Synonymous SNV A1561A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.265 259565 chr22 32330272 32330272 G A rs61736319 C22orf24 Synonymous SNV L172L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.391 259566 chr22 32811973 32811973 A G rs115332147 BPIFC Synonymous SNV L444L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.531 259567 chr12 2062324 2062326 TGC - rs755083442 DCP1B Q261del 0.002 0 0 0 2 0 0 0 0 0 0 0 259568 chr2 113067462 113067462 C T rs538172424 ZC3H6 Nonsynonymous SNV R113C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 259569 chr22 36556882 36556882 T C rs148712729 APOL3 Nonsynonymous SNV S20G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 259570 chr2 96952164 96952164 G T rs143175658 SNRNP200 Synonymous SNV P1296P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.607 259571 chr12 110778614 110778614 A G rs199966458 ATP2A2 Nonsynonymous SNV I638V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.64 259572 chr22 37465121 37465121 C A rs115310908 TMPRSS6 Nonsynonymous SNV R702L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.2 259573 chr2 99438687 99438687 G C rs372439503 KIAA1211L Synonymous SNV P683P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.41 259574 chr22 37524483 37524483 C T rs181177639 IL2RB Nonsynonymous SNV G437S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.2 259575 chr2 207527908 207527908 C T rs565968460 DYTN Nonsynonymous SNV R451Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 259576 chr12 113722405 113722405 C T rs756922383 TPCN1 Synonymous SNV N386N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.92 259577 chr22 39621797 39621797 G T rs35978693 PDGFB Synonymous SNV P219P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.791 259578 chr22 39711272 39711272 G A rs114334676 SNORD83A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.02 259579 chr22 39714580 39714580 G A rs61737929 RPL3 Synonymous SNV S7S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.703 259580 chr12 32994099 32994099 A G rs757126132 PKP2 Synonymous SNV N473N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.445 259581 chr2 215823040 215823040 G A rs529364926 ABCA12 Synonymous SNV G1708G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 259582 chr22 40056354 40056354 C T rs61708088 CACNA1I Synonymous SNV D835D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.72 259583 chr12 116429027 116429027 G A MED13L Synonymous SNV D1244D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.194 259584 chr12 120272002 120272002 G A rs778242148 CIT Synonymous SNV L183L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.59 259585 chr22 40283561 40283561 A G rs8139570 ENTHD1 Synonymous SNV H64H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.313 259586 chr22 40415968 40415968 G T rs12330063 FAM83F Nonsynonymous SNV R245S 0.001 0 0 0 1 0 0 0 0 0 0 0 29 259587 chr22 40417495 40417495 C T rs11914082 FAM83F Synonymous SNV Y327Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 259588 chr22 41513599 41513599 G C rs757808968 EP300 Nonsynonymous SNV G168A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 259589 chr22 41553259 41553259 G A rs20554 EP300 Synonymous SNV Q1090Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.595 259590 chr22 42154386 42154386 G C rs17002655 MEI1 Nonsynonymous SNV E657Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.53 259591 chr2 113514513 113514513 C T rs754636699 CKAP2L Synonymous SNV E145E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.15 259592 chr22 42263112 42263112 C A rs2229438 SREBF2 Synonymous SNV P122P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.51 259593 chr22 42306004 42306004 G A rs141868904 SHISA8 Nonsynonymous SNV A320V 0.002 0 0 0 2 0 0 0 1 0 0 0 7.053 259594 chr2 113737654 113737654 T C rs139474745 IL36G Synonymous SNV L42L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.329 259595 chr22 42418355 42418355 G T rs17002802 WBP2NL Nonsynonymous SNV C170F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 259596 chr2 113950160 113950162 AGA - rs751014443 PSD4 K612del 0 0 0 1 0 0 0.003 0 0 0 0 0 259597 chr22 43089289 43089289 G A rs28915384 A4GALT Synonymous SNV F223F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.347 259598 chr22 43230266 43230266 G A rs17003382 ARFGAP3 Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 259599 chr22 43308063 43308063 G A rs35091957 PACSIN2 Synonymous SNV S8S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 259600 chr12 121932409 121932409 C T KDM2B Synonymous SNV V538V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.67 259601 chr22 43533105 43533105 C G rs73886407 MCAT Synonymous SNV V237V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.23 259602 chr22 43570546 43570546 G A rs34603248 TTLL12 Synonymous SNV D331D 0.002 0 0 0 2 0 0 0 1 0 0 0 5.808 259603 chr2 120640084 120640084 C A rs138361206 PTPN4 Nonsynonymous SNV L158I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 259604 chr22 44127643 44127643 G A rs140948403 EFCAB6 Synonymous SNV N79N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 259605 chr22 44342175 44342175 C G rs76510336 PNPLA3 Nonsynonymous SNV S453R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.58 259606 chr12 122977287 122977287 G C ZCCHC8 Nonsynonymous SNV L98V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 259607 chr22 44514941 44514941 C T rs145402138 PARVB Synonymous SNV D62D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.913 259608 chr22 44514995 44514995 C T rs76348360 PARVB Synonymous SNV D80D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 259609 chr22 44564507 44564507 C T rs34391934 PARVB Synonymous SNV S273S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.79 259610 chr22 44585131 44585131 G A rs527695822 PARVG Nonsynonymous SNV E129K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 259611 chr12 123968774 123968774 G C rs183288011 RILPL1 Nonsynonymous SNV I340M 0.003 0 0 0 3 0 0 0 0 0 0 0 12.52 259612 chr2 131130476 131130476 G T rs1019102794 PTPN18 Nonsynonymous SNV G317V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 259613 chr22 45221404 45221404 C T rs74393756 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV P176L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 12.42 259614 chr2 163167295 163167295 T G IFIH1 Nonsynonymous SNV D201A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.104 259615 chr22 45595791 45595791 G A rs150877720 KIAA0930 Synonymous SNV N326N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.633 259616 chr2 135745289 135745289 C A rs151163384 MAP3K19 Stop gain E272X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 259617 chr22 45755814 45755814 T G rs147786046 SMC1B Nonsynonymous SNV E911D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 259618 chr22 45802407 45802407 C T rs58336299 SMC1B Synonymous SNV Q183Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.957 259619 chr22 45898927 45898927 C T rs573558018 FBLN1 Nonsynonymous SNV A21V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 259620 chr2 178528677 178528677 C A rs772883355 PDE11A Nonsynonymous SNV A411S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 259621 chr2 179368485 179368485 A G PLEKHA3 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23 259622 chr2 136673942 136673942 C A DARS1 Nonsynonymous SNV R220S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 259623 chr22 46772988 46772988 G T rs116079347 CELSR1 Nonsynonymous SNV F2518L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.1 259624 chr22 46787600 46787600 G A rs61737809 CELSR1 Synonymous SNV P2026P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.452 259625 chr12 131471860 131471860 G A rs199837477 ADGRD1 Synonymous SNV P237P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.75 259626 chr2 182388942 182388942 G A rs190472017 ITGA4 Synonymous SNV A738A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.58 259627 chr12 77417825 77417825 T G rs766410971 E2F7 Nonsynonymous SNV R902S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 259628 chr22 46929927 46929927 G A rs760684048 CELSR1 Synonymous SNV F1047F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.194 259629 chr22 46930138 46930138 G A rs61737813 CELSR1 Nonsynonymous SNV T977I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.629 259630 chr22 46931052 46931052 G A rs10428011 CELSR1 Synonymous SNV S672S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 259631 chr22 46932854 46932854 G A rs10427790 CELSR1 Nonsynonymous SNV R72W 0.002 0 0 0 2 0 0 0 1 0 0 0 22.7 259632 chr22 47103823 47103823 G A rs9306515 CERK Nonsynonymous SNV T211M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 259633 chr2 160080850 160080850 G A rs375530768 TANC1 Synonymous SNV A1061A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 259634 chr2 186655859 186655859 - T FSIP2 Frameshift insertion A1335Cfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 259635 chr12 133201563 133201563 G A rs149973644 POLE Synonymous SNV R2225R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 6.874 259636 chr12 81101850 81101850 C A rs34563783 MYF6 Synonymous SNV R118R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 19.59 259637 chr2 187523767 187523767 T G ITGAV Nonsynonymous SNV D538E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 259638 chr12 1345985 1345985 A G rs759828967 ERC1 Nonsynonymous SNV Q801R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 259639 chr22 50632028 50632028 G A rs61473705 TRABD Synonymous SNV P19P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.116 259640 chr22 50657189 50657189 G A rs78122876 TUBGCP6 Synonymous SNV P1588P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.99 259641 chr22 50657219 50657219 G A rs34104775 TUBGCP6 Synonymous SNV S1578S 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 8.07 259642 chr22 50659347 50659347 G A rs73893142 TUBGCP6 Synonymous SNV N1147N 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 5.823 259643 chr22 50686507 50686507 A G HDAC10 Synonymous SNV P363P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.68 259644 chr22 50714211 50714211 A G rs190255875 PLXNB2 Synonymous SNV P1813P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.47 259645 chr22 50721296 50721296 G A rs149805063 PLXNB2 Nonsynonymous SNV A944V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.63 259646 chr12 55794453 55794453 A T OR6C65 Synonymous SNV T47T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 259647 chr2 197187214 197187214 C T rs369637193 HECW2 Nonsynonymous SNV R291Q 0.004 0 0 0 5 0 0 0 0 0 0 0 29.1 259648 chr2 238662107 238662107 C T rs201084665 LRRFIP1 Synonymous SNV Y157Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 259649 chrX 2876422 2876422 T C rs35718384 ARSL Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.086 259650 chrX 5811038 5811038 C T rs4999056 NLGN4X Synonymous SNV P757P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.245 259651 chr2 239016457 239016457 C T rs556005720 ESPNL Nonsynonymous SNV T233M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 259652 chrX 9864443 9864443 C T rs12006769 SHROOM2 Nonsynonymous SNV A832V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.033 259653 chrX 9935523 9935523 C G rs145798132 CLDN34 Synonymous SNV T42T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.327 259654 chrX 10077869 10077869 A G rs35526154 WWC3 Synonymous SNV P261P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 259655 chrX 10077878 10077878 C G rs34250360 WWC3 Synonymous SNV A264A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 259656 chrX 13645368 13645368 G T rs34550481 EGFL6 Nonsynonymous SNV L509F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.1 259657 chrX 17818868 17818868 T C rs151029765 RAI2 Synonymous SNV E421E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 259658 chrX 19482498 19482498 G A rs5955788 MAP3K15 Synonymous SNV I184I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.891 259659 chrX 19560129 19560129 C T rs140545590 SH3KBP1 Synonymous SNV A321A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 259660 chrX 19606793 19606793 C T rs2290805 SH3KBP1 Synonymous SNV P184P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.66 259661 chrX 19626077 19626077 C T rs3747357 SH3KBP1 Synonymous SNV P90P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 259662 chrX 24091291 24091291 C T rs11548543 EIF2S3 Synonymous SNV A422A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.56 259663 chrX 34149722 34149722 G T rs201141025 FAM47A Nonsynonymous SNV P225Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 259664 chrX 34150019 34150019 A G rs111534710 FAM47A Nonsynonymous SNV M126T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 259665 chrX 36122710 36122710 C T rs150125310 CFAP47 Nonsynonymous SNV S1741F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 259666 chrX 36208265 36208265 C T rs73472871 CFAP47 Synonymous SNV P2091P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.414 259667 chr12 6981929 6981929 T G SPSB2 Nonsynonymous SNV H46P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 259668 chrX 37545364 37545364 C T rs28940593 XK Synonymous SNV L50L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.03 259669 chr2 191364828 191364828 C T rs149142084 MFSD6 Nonsynonymous SNV P754S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 21.7 259670 chrX 47269680 47269680 C T rs6651659 ZNF157 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.32 259671 chrX 47272630 47272630 C T rs61736396 ZNF157 Synonymous SNV Y386Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.25 259672 chrX 47308509 47308509 A C rs34301930 ZNF41 Nonsynonymous SNV N134K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.214 259673 chrX 47926353 47926353 C T rs138107882 ZNF630-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.215 259674 chrX 49851173 49851173 G C rs34122840 CLCN5 Synonymous SNV L331L 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 6.082 259675 chrX 49957346 49957346 G C rs12012704 AKAP4 Nonsynonymous SNV A673G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259676 chrX 53111758 53111758 - CCGCCG rs781884842 TSPYL2 P33_L34insPP 0.001 0 0 0 1 0 0 0 0 0 0 0 259677 chr2 210843282 210843282 G A rs555678095 UNC80 Nonsynonymous SNV V2924M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 26.2 259678 chrX 54949666 54949666 C T rs199620781 TRO Nonsynonymous SNV T234I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.013 259679 chrX 54955392 54955392 C G rs201796048 TRO Synonymous SNV P276P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.214 259680 chrX 54956322 54956322 C T rs369361542 TRO Synonymous SNV T586T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.767 259681 chrX 55513762 55513762 C T rs145390872 USP51 Synonymous SNV V537V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 259682 chr2 215593632 215593632 T A BARD1 Nonsynonymous SNV Q188L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 27 259683 chrX 67284015 67284015 T C rs146588152 OPHN1 Synonymous SNV E613E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.007 259684 chr12 52822464 52822464 T A rs2232402 KRT75 Nonsynonymous SNV I367F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 259685 chrX 69282867 69282867 G A rs113158903 OTUD6A Nonsynonymous SNV V165M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.13 259686 chr12 52914023 52914023 C T rs776895650 KRT5 Nonsynonymous SNV A20T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 259687 chrX 69715265 69715265 C T rs144335681 DLG3 Nonsynonymous SNV P594L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.3 259688 chrX 70326216 70326216 C T rs180690065 CXorf65 Nonsynonymous SNV R29H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 259689 chrX 70514091 70514091 A G rs61733878 NONO Synonymous SNV L32L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.806 259690 chrX 70824523 70824523 C T rs146677567 GCNA Nonsynonymous SNV P466S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 259691 chrX 70887721 70887721 G A rs184493545 LOC101059915 Nonsynonymous SNV G23D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.612 259692 chrX 70887938 70887938 A G rs60141419 LOC101059915 Synonymous SNV Q95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.954 259693 chrX 70888243 70888243 C T rs141826026 LOC101059915 Nonsynonymous SNV A197V 0.001 0 0 0 1 0 0 0 0 0 0 0 3 259694 chrX 71351337 71351337 C A rs185351223 RTL5 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 259695 chrX 71359817 71359817 G A rs147802859 NHSL2 Nonsynonymous SNV V807I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.429 259696 chrX 71363407 71363407 G A rs183807731 NHSL2 Nonsynonymous SNV D1221N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 259697 chrX 71428119 71428119 C T rs7056605 ERCC6L Synonymous SNV K166K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.649 259698 chrX 71830971 71830971 G A rs61732499 PHKA1 Synonymous SNV T752T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.933 259699 chrX 73815747 73815747 C T rs75871009 RLIM Synonymous SNV Q22Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.675 259700 chrX 75648969 75648969 G A rs5982146 MAGEE1 Nonsynonymous SNV A216T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 259701 chr13 31498460 31498460 - C rs749956979 MEDAG Frameshift insertion V268Cfs*3 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 259702 chr13 31498461 31498461 T A rs751918546 MEDAG Nonsynonymous SNV D267E 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.098 259703 chr13 31498465 31498465 T G rs757561985 MEDAG Nonsynonymous SNV F269V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.8 259704 chr13 31498466 31498466 - CAA rs779681405 MEDAG N270_C271insN 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 259705 chr13 31498467 31498467 - AGAC rs751810162 MEDAG Frameshift insertion N270Rfs*28 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 259706 chr12 9096398 9096398 G A rs776616054 M6PR Nonsynonymous SNV A151V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 259707 chrX 78216720 78216720 A T rs762374049 P2RY10 Nonsynonymous SNV I235F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 259708 chr12 9260171 9260171 G A rs189769977 A2M Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.23 259709 chrX 83724020 83724020 G A rs34867209 HDX Synonymous SNV G179G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.007 259710 chrX 83724154 83724154 C T rs35653454 HDX Nonsynonymous SNV A135T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.357 259711 chr12 53345971 53345971 C T rs372449912 KRT18 Synonymous SNV N339N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 259712 chr13 38154776 38154776 G A rs145787730 POSTN Nonsynonymous SNV A484V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.58 259713 chrX 100087831 100087831 C T rs61741775 CSTF2 Synonymous SNV P363P 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 11.38 259714 chrX 100278558 100278558 T C rs61745518 TRMT2B Synonymous SNV V219V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.578 259715 chrX 100537346 100537346 C T rs141209944 TAF7L Synonymous SNV G125G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.425 259716 chrX 100912065 100912065 C T rs78189978 ARMCX2 Synonymous SNV A170A 0.001 0 0.007 0 1 0 0 2 0 0 1 0 12.73 259717 chrX 101970172 101970183 GGCCCAGGCATG - rs61097741 ARMCX5-GPRASP2, GPRASP2 A128_Q131del 0.001 0 0.007 0 1 0 0 2 0 0 1 0 259718 chrX 102962343 102962343 T C rs61744012 GLRA4 Nonsynonymous SNV I395V 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 2.025 259719 chr2 219146679 219146679 C T rs369968603 TMBIM1 Synonymous SNV P62P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.6 259720 chrX 105168689 105168689 C A rs16984889 NRK Nonsynonymous SNV A993E 0.001 0 0.007 0 1 0 0 2 0 0 1 0 22.8 259721 chrX 105449446 105449446 A G rs186011816 PWWP3B Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.362 259722 chrX 106083304 106083304 A G rs56825776 TBC1D8B Synonymous SNV S460S 0.004 0 0 0 5 0 0 0 1 0 0 0 8.685 259723 chrX 106396436 106396436 A C rs137855042 NUP62CL Nonsynonymous SNV Y166D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 259724 chrX 106846552 106846552 G A rs141655380 FRMPD3 Synonymous SNV S1794S 0.004 0 0 0 5 0 0 0 1 0 0 0 10.24 259725 chrX 107169328 107169328 A G rs150570766 MID2 Synonymous SNV Q534Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.04 259726 chrX 109696886 109696886 T G rs35287859 RTL9 Nonsynonymous SNV M1014R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 259727 chrX 110391016 110391016 T C rs149924049 PAK3 Synonymous SNV L110L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 259728 chrX 110492165 110492165 T C rs36011386 CAPN6 Nonsynonymous SNV K427E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 259729 chrX 111024430 111024430 C T rs36047478 TRPC5 Nonsynonymous SNV R702H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 259730 chr2 220073005 220073005 T C rs143749451 ZFAND2B Synonymous SNV A110A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 259731 chrX 111914535 111914535 G A rs73536903 LHFPL1 Synonymous SNV F28F 0.002 0 0 0 2 0 0 0 1 0 0 0 6.792 259732 chrX 114425196 114425196 G A rs12399211 RBMXL3 Nonsynonymous SNV D398N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 259733 chrX 114425207 114425207 - GGAGGCCGCTCGCCCGACACCCACAGT rs782776887 RBMXL3 R404_N405insSPDTHSGGR 0.001 0 0 0 1 0 0 0 0 0 0 0 259734 chrX 114425508 114425508 G A rs116514711 RBMXL3 Nonsynonymous SNV D502N 0.001 0 0 0 1 0 0 0 0 0 0 0 21 259735 chrX 114540883 114540883 A G rs2232734 LUZP4 Synonymous SNV Q70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.991 259736 chrX 115945100 115945100 C T rs187607333 LOC100126447 0.001 0 0 0 1 0 0 0 0 0 0 0 2.71 259737 chr12 55968290 55968290 T - rs780345879 OR2AP1 A32Rfs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 259738 chr13 110818604 110818604 G A rs150857429 COL4A1 Synonymous SNV G1332G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.862 259739 chrX 119389143 119389143 C A rs79151935 ZBTB33 Nonsynonymous SNV P625T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.71 259740 chrX 119660670 119660670 C T rs143580749 CUL4B Synonymous SNV R878R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.89 259741 chrX 124455646 124455646 C T rs181806419 TEX13C Synonymous SNV L560L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.483 259742 chrX 129498715 129498715 A C rs1027093732 SLC25A14 Nonsynonymous SNV L201F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 259743 chrX 130409069 130409069 C T rs143211470 IGSF1 Nonsynonymous SNV G1117S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.075 259744 chr2 225666635 225666635 G T rs1012507581 DOCK10 Nonsynonymous SNV T1458N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 259745 chrX 130678287 130678287 G A rs61748340 OR13H1 Synonymous SNV Q80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.017 259746 chrX 132161427 132161427 G A rs73564230 USP26 Synonymous SNV D274D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.056 259747 chr2 242135235 242135235 G A rs150352902 ANO7 Nonsynonymous SNV R94H 0.005 0.003 0 0 6 1 0 0 0 0 0 0 12.09 259748 chrX 134425410 134425410 C T rs78544936 ZNF75D Synonymous SNV L228L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.271 259749 chrX 134993814 134993814 T G rs35470903 SAGE1 Nonsynonymous SNV N741K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 259750 chr2 230693943 230693943 T C TRIP12 Synonymous SNV S127S 0 0 0 2 0 0 0.005 0 0 0 0 0 8.231 259751 chr12 7045903 7045903 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 259752 chrX 140984512 140984512 T G rs148246186 MAGEC3 Nonsynonymous SNV L25W 0.001 0 0 0 1 0 0 0 0 0 0 0 7.4 259753 chrX 152226556 152226556 G A rs36042591 PNMA3 Nonsynonymous SNV G382S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.64 259754 chrX 152710373 152710373 G A rs150316545 TREX2 Synonymous SNV L172L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.065 259755 chrX 152770767 152770767 G A rs150272427 BGN Nonsynonymous SNV E104K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.2 259756 chrX 152807815 152807815 G A rs143745197 ATP2B3 Synonymous SNV Q233Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.024 259757 chr12 80928721 80928721 T C PTPRQ Nonsynonymous SNV S792P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 259758 chr2 238280358 238280358 C T rs3791000 COL6A3 Synonymous SNV S1027S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.839 259759 chr2 238475262 238475262 C T PRLH Synonymous SNV L16L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.019 259760 chr1 906378 906378 C T PLEKHN1 Nonsynonymous SNV P202S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.128 259761 chr12 93226469 93226469 G T EEA1 Nonsynonymous SNV T358N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 259762 chr1 985700 985700 G A rs374905300 AGRN Nonsynonymous SNV R1656Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.74 259763 chr3 4358390 4358390 G A rs1031562015 SETMAR Synonymous SNV R217R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 259764 chr13 58208303 58208303 C T rs1056370797 PCDH17 Synonymous SNV N541N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.216 259765 chr3 8667975 8667975 G T rs764347542 SSUH2 Nonsynonymous SNV T236N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.53 259766 chr14 23947227 23947227 C T NGDN Nonsynonymous SNV R314W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 259767 chr13 96410004 96410004 G A rs755504184 DNAJC3 Nonsynonymous SNV S167N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 259768 chr13 98658527 98658527 A C rs61750356 IPO5 Nonsynonymous SNV Q547H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 259769 chr13 99907240 99907240 C T rs61736137 GPR18 Nonsynonymous SNV R296Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 259770 chr3 5249938 5249938 - C EDEM1 Frameshift insertion L501Pfs*39 0 0 0 1 0 0 0.003 0 0 0 0 0 259771 chr3 42906459 42906459 G A rs754306715 ACKR2 Synonymous SNV L155L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.144 259772 chr3 13659640 13659640 C T FBLN2 Synonymous SNV N598N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.676 259773 chr12 97339575 97339575 A G NEDD1 Nonsynonymous SNV I498V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.035 259774 chr3 11596300 11596300 G A rs372353369 ATG7 Nonsynonymous SNV D619N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 259775 chr1 6639550 6639550 A G TAS1R1 Nonsynonymous SNV K557R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 259776 chr3 45266803 45266803 G A TMEM158 Synonymous SNV A239A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 15.15 259777 chr3 46307064 46307064 G A rs145141172 CCR3 Nonsynonymous SNV V139M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.1 259778 chr14 45433582 45433582 G A TOGARAM1 Nonsynonymous SNV G653E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 259779 chr1 11808602 11808602 C T rs147622155 AGTRAP Nonsynonymous SNV P100L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 259780 chr3 30713834 30713834 G T rs35766612 TGFBR2 Nonsynonymous SNV V387L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 259781 chr3 52431060 52431060 C T rs763327180 DNAH1 Synonymous SNV H3929H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.081 259782 chr13 113223467 113223467 C T rs147591152 TUBGCP3 Synonymous SNV E61E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.52 259783 chr13 113765081 113765081 C T rs373376565 F7 Nonsynonymous SNV P48S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.003 259784 chr13 115091732 115091732 G A rs782548115 CHAMP1 Synonymous SNV P805P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.558 259785 chr14 21769281 21769281 A G rs372557648 RPGRIP1 Synonymous SNV Q125Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.611 259786 chr14 61180804 61180804 G A rs536442725 SIX4 Nonsynonymous SNV T556M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 259787 chr14 22138881 22138881 C A rs1021935949 OR4E1 Nonsynonymous SNV W90C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 259788 chr3 39433034 39433034 G A SLC25A38 Nonsynonymous SNV V127I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.363 259789 chr14 23346580 23346580 G A LRP10 Synonymous SNV L662L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.777 259790 chr3 40251388 40251388 G A rs146905729 MYRIP Nonsynonymous SNV R383Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 259791 chr3 43743887 43743887 A G rs1000849111 ABHD5 Nonsynonymous SNV Y105C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 259792 chr3 45077130 45077130 C T rs776497976 CLEC3B Nonsynonymous SNV P66L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 259793 chr14 24653231 24653231 C T rs373886709 IPO4 Synonymous SNV L614L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 259794 chr3 44541725 44541725 T C rs759863698 ZNF852 Nonsynonymous SNV T182A 0 0 0 2 0 0 0.005 0 0 0 0 0 14.82 259795 chr14 24703432 24703432 A G GMPR2 Nonsynonymous SNV I28M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 259796 chr13 53029710 53029710 C T rs146292755 CKAP2 Nonsynonymous SNV P7S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 259797 chr3 98620135 98620135 G A DCBLD2 Synonymous SNV C12C 0.002 0 0 0 2 0 0 0 0 0 0 0 5.74 259798 chr3 46875442 46875442 C T rs768648575 PRSS42P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.13 259799 chr14 74180171 74180171 C T rs201622016 PNMA1 Nonsynonymous SNV E58K 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 24.5 259800 chr13 36410271 36410271 C T rs888483880 DCLK1 Synonymous SNV S69S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.3 259801 chr13 37453784 37453784 T C rs747809295 SMAD9 Nonsynonymous SNV S15G 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 259802 chr1 20442950 20442950 C T rs374873622 PLA2G2D Nonsynonymous SNV G21R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 259803 chr14 74706508 74706508 G A rs375294678 VSX2 Nonsynonymous SNV G82R 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.2 259804 chr14 31614126 31614126 A G rs373355662 HECTD1 Synonymous SNV L840L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.131 259805 chr3 48623035 48623035 G A rs754296949 COL7A1 Synonymous SNV P1283P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 259806 chr14 77493648 77493656 GCGGCGGCG - rs773409481 IRF2BPL A162_A164del 0 0 0 1 0 0 0.003 0 0 0 0 0 259807 chr3 48698391 48698391 G A CELSR3 Synonymous SNV R559R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.315 259808 chr14 77894722 77894722 G C VIPAS39 Synonymous SNV L435L 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 9.132 259809 chr13 49833612 49833612 A C CDADC1 Nonsynonymous SNV Y128S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 259810 chr3 49679822 49679822 C T rs544923830 BSN Nonsynonymous SNV S252F 0 0 0 2 0 0 0.005 0 0 0 0 0 18.1 259811 chr14 50101171 50101171 C T rs761407249 DNAAF2 Nonsynonymous SNV A233T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.045 259812 chr3 50225517 50225517 G A SEMA3F Nonsynonymous SNV R677Q 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 259813 chr3 50326254 50326254 G A rs200622087 IFRD2 Nonsynonymous SNV R398C 0 0 0 2 0 0 0.005 0 0 0 0 0 34 259814 chr14 91633905 91633905 C T DGLUCY Nonsynonymous SNV P117L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.611 259815 chr13 73468055 73468055 T C rs371419412 PIBF1 Synonymous SNV L486L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.057 259816 chr1 26149672 26149672 C G rs905382784 LOC646471 0.002 0 0 0 2 0 0 0 0 0 0 0 4.219 259817 chr14 55168871 55168871 C T rs780524004 SAMD4A Synonymous SNV D96D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.69 259818 chr14 92900257 92900257 G A rs77425477 SLC24A4 Synonymous SNV A81A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.042 259819 chr14 105618357 105618357 G A rs936616719 JAG2 Synonymous SNV N319N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.974 259820 chr14 59950650 59950650 G C rs375464365 L3HYPDH Nonsynonymous SNV R129G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.811 259821 chr3 73453488 73453488 G A PDZRN3 Nonsynonymous SNV T24I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.9 259822 chr3 124385471 124385471 G C rs377746113 KALRN Nonsynonymous SNV R444T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.06 259823 chr14 68042141 68042141 C T rs372514674 PLEKHH1 Synonymous SNV C707C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.19 259824 chr3 107492023 107492023 C T rs200479657 BBX Synonymous SNV S485S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.81 259825 chr14 105350228 105350228 C T rs761980821 CEP170B Nonsynonymous SNV S301L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.931 259826 chr3 108639429 108639429 C T GUCA1C Nonsynonymous SNV G70R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 259827 chr3 128627035 128627035 A G rs753077373 ACAD9 Nonsynonymous SNV N429S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 259828 chr3 108812329 108812329 C T MORC1 Nonsynonymous SNV V215I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.48 259829 chr14 105927182 105927182 C T rs375678503 MTA1 Synonymous SNV P278P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.31 259830 chr3 113115475 113115475 G A rs113101974 CFAP44 Nonsynonymous SNV R557W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 259831 chr14 24801045 24801045 T A rs73591468 ADCY4 Synonymous SNV A206A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.533 259832 chr14 90759094 90759094 G A rs764555221 NRDE2 Nonsynonymous SNV P597S 0.003 0 0 0 3 0 0 0 0 0 0 0 29.5 259833 chr3 148545801 148545801 C G CPB1 Nonsynonymous SNV F28L 0.003 0 0 0 4 0 0 0 0 0 0 0 5.637 259834 chr3 119531556 119531556 C T rs12721600 NR1I2 Synonymous SNV G181G 0 0 0 2 0 0 0.005 0 0 0 0 0 7.473 259835 chr14 91413836 91413836 C G rs7143758 RPS6KA5 Nonsynonymous SNV E78D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 259836 chr14 92470193 92470193 G A rs1045076800 TRIP11 Nonsynonymous SNV S1375L 0.003 0 0 0 3 0 0 0 0 0 0 0 14.19 259837 chr3 121340549 121340549 C A FBXO40 Nonsynonymous SNV S91R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 259838 chr14 47120367 47120367 G T rs61745037 RPL10L Synonymous SNV I191I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.56 259839 chr14 50585231 50585231 A G rs146802994 SOS2 Nonsynonymous SNV L1277P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.08 259840 chr14 23421583 23421583 T C rs767259415 HAUS4 Nonsynonymous SNV Y95C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 259841 chr4 2932855 2932855 C T rs139750456 MFSD10 Nonsynonymous SNV R359Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 259842 chr3 123003541 123003541 G T ADCY5 Nonsynonymous SNV Q884K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 259843 chr3 127399269 127399269 G A rs199613465 ABTB1 Nonsynonymous SNV R321H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 259844 chr1 58999712 58999712 G A rs34851388 OMA1 Synonymous SNV F308F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.992 259845 chr3 127775557 127775557 T C rs757864909 SEC61A1 Synonymous SNV L76L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 259846 chr14 24773464 24773464 G A rs898297801 NOP9 Nonsynonymous SNV R543H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 259847 chr15 62283279 62283279 T C VPS13C Nonsynonymous SNV M457V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 259848 chr14 68758672 68758672 A T rs777135270 RAD51B Synonymous SNV P276P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.76 259849 chr14 45695978 45695978 G T rs144591732 MIS18BP1 Nonsynonymous SNV T603K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 259850 chr15 40915277 40915277 A T rs145740834 KNL1 Nonsynonymous SNV M939L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.084 259851 chr3 138456597 138456597 G A rs199909802 PIK3CB Synonymous SNV S251S 0 0 0 2 0 0 0.005 0 0 0 0 0 2.188 259852 chr15 40916890 40916892 TAT - rs763671130 KNL1 I1478del 0.001 0 0 0 1 0 0 0 0 0 0 0 259853 chr15 69238220 69238220 C T rs757872869 SPESP1 Nonsynonymous SNV T116M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.07 259854 chr3 156413714 156413714 A T TIPARP Nonsynonymous SNV M383L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 259855 chr15 42162518 42162518 G A rs200576078 SPTBN5 Nonsynonymous SNV R1866W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 259856 chr3 154146860 154146860 C A rs1011332591 GPR149 Nonsynonymous SNV C182F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 259857 chr4 40122168 40122168 G A rs183553717 N4BP2 Nonsynonymous SNV V813I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.081 259858 chr14 79433612 79433612 C T rs776750366 NRXN3 Nonsynonymous SNV R574C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 259859 chr14 59942598 59942598 T A L3HYPDH Stop gain K139X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 259860 chr15 43628858 43628858 A C rs773947116 ADAL Nonsynonymous SNV T77P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 259861 chr3 164748500 164748500 C T rs145486890 SI Synonymous SNV T964T 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 10.79 259862 chr3 167184947 167184947 T C rs754776735 SERPINI2 Nonsynonymous SNV H125R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 259863 chr3 172766883 172766883 A T rs754856573 SPATA16 Nonsynonymous SNV L205H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 259864 chr3 169485944 169485944 T C rs376794081 ACTRT3 Nonsynonymous SNV Y132C 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 259865 chr14 65260279 65260279 T C rs946135261 SPTB Nonsynonymous SNV H701R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.113 259866 chr15 48624511 48624511 G A rs780081759 DUT Synonymous SNV V21V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.62 259867 chr14 68036673 68036673 T C rs780846311 PLEKHH1 Nonsynonymous SNV F460L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 259868 chr1 109280135 109280135 C T rs79904233 FNDC7 Nonsynonymous SNV T720I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 259869 chr14 70991001 70991001 T C rs61739361 ADAM20 Synonymous SNV V158V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.574 259870 chr15 55647628 55647628 T C PIGB X555R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 259871 chr14 96730456 96730456 G A rs756885188 BDKRB1 Nonsynonymous SNV R146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 259872 chr1 110051462 110051462 C T rs146766120 AMIGO1 Nonsynonymous SNV A25T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.31 259873 chr3 184104396 184104396 T G rs959792368 CHRD Synonymous SNV P683P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.088 259874 chr15 58001489 58001489 T C rs748029829 GCOM1, POLR2M Nonsynonymous SNV Y74H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 259875 chr4 74021781 74021781 G A rs761209641 ANKRD17 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 259876 chr1 112106518 112106518 G A rs914128216 TMIGD3 Synonymous SNV S19S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.137 259877 chr1 112533401 112533401 C T rs116067474 LINC01750 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 259878 chr1 113257761 113257761 C T rs202231915 PPM1J Nonsynonymous SNV A55T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 259879 chr1 114454516 114454516 C T rs144843243 DCLRE1B Synonymous SNV H308H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.13 259880 chr1 114682424 114682424 G A rs140788805 SYT6 Nonsynonymous SNV P109S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 259881 chr1 114682425 114682425 G C rs149700277 SYT6 Nonsynonymous SNV S108R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 259882 chr4 13485753 13485753 T A rs563578751 RAB28 Nonsynonymous SNV S8C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 20.7 259883 chr14 81259156 81259156 G A rs753223975 CEP128 Nonsynonymous SNV A503V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.12 259884 chr1 115455679 115455679 C A rs61091884 SYCP1 Nonsynonymous SNV H519N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 259885 chr1 116936212 116936212 C T rs367957404 ATP1A1 Synonymous SNV G509G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 259886 chr1 117576631 117576631 C T rs34248572 CD101 Nonsynonymous SNV R992W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 259887 chr14 88935351 88935351 G A rs150736820 PTPN21 Nonsynonymous SNV P1102L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 259888 chr1 118449203 118449203 G C rs34060507 GDAP2 Synonymous SNV R187R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 259889 chr1 118516181 118516181 G C rs74114950 SPAG17 Nonsynonymous SNV A2003G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.846 259890 chr15 38757603 38757603 A G rs150615011 FAM98B Synonymous SNV L117L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 259891 chr14 92624014 92624014 C G CPSF2 Nonsynonymous SNV T485S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.17 259892 chr4 88929111 88929111 T C PKD2 Nonsynonymous SNV S76P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 259893 chr3 197659131 197659131 C T rs773106811 IQCG Synonymous SNV L186L 0 0 0 2 0 0 0.005 0 0 0 0 0 11.66 259894 chr4 1902957 1902957 C T rs138137147 NSD2 Synonymous SNV I192I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 14.03 259895 chr15 81644146 81644146 G A rs373480960 TMC3 Synonymous SNV I324I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.286 259896 chr4 6304087 6304087 A T rs1046316 WFS1 Synonymous SNV S855S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.001 259897 chr4 6860206 6860206 C A rs771027657 KIAA0232 Nonsynonymous SNV S164Y 0 0 0 1 0 0 0.003 0 0 0 0 0 32 259898 chr15 89182714 89182714 C T rs777053263 ISG20 Synonymous SNV Y39Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.71 259899 chr15 49907321 49907321 G A rs146493430 FAM227B Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.489 259900 chr15 90171985 90171985 T C KIF7 Nonsynonymous SNV R1233G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 259901 chr15 41192540 41192540 C T rs79536497 VPS18 Synonymous SNV G508G 0.004 0 0 0 5 0 0 0 0 0 0 0 10.48 259902 chr15 42145904 42145904 G A rs188061762 SPTBN5 Nonsynonymous SNV P3286S 0.003 0 0 0 3 0 0 0 0 0 0 0 3.103 259903 chr1 160000917 160000917 G A rs376519579 PIGM Nonsynonymous SNV R205C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 259904 chr4 90169365 90169365 G A GPRIN3 Nonsynonymous SNV R633C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 259905 chr15 42363672 42363672 G A PLA2G4D Stop gain Q551X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 259906 chr4 46930534 46930534 G C rs199907143 GABRA4 Nonsynonymous SNV S388C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.26 259907 chr4 48512137 48512137 C G FRYL Nonsynonymous SNV G2778A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.09 259908 chr4 47427853 47427853 G C GABRB1 Nonsynonymous SNV G415R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.02 259909 chr15 66795195 66795195 A G SNORD16 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 259910 chr4 47605557 47605557 T A CORIN Nonsynonymous SNV D786V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 259911 chr16 30776790 30776790 G C RNF40 Nonsynonymous SNV Q321H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.94 259912 chr4 49005824 49005824 T C rs139431608 CWH43 Nonsynonymous SNV I265T 0 0 0 2 0 0 0.005 0 0 0 0 0 5.716 259913 chr4 66467907 66467907 T G rs763366282 EPHA5 Nonsynonymous SNV E121A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.04 259914 chr16 31477860 31477860 G A rs747082697 ARMC5 Nonsynonymous SNV V820M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 259915 chr15 73735591 73735591 C T rs371048409 REC114 Nonsynonymous SNV P22L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 259916 chr4 70823225 70823225 G A CSN2 Nonsynonymous SNV P147S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 259917 chr1 170633396 170633396 C T rs775130367 PRRX1 Nonsynonymous SNV P13S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 259918 chr4 65274892 65274892 A G rs376124638 TECRL Nonsynonymous SNV F60L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.09 259919 chr4 70505068 70505068 C A rs751664982 UGT2A1, UGT2A2 Nonsynonymous SNV E97D 0 0 0 2 0 0 0.005 0 0 0 0 0 10.44 259920 chr1 179820452 179820452 C T rs116391801 TOR1AIP2 Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 259921 chr4 76580355 76580355 T G rs191522721 G3BP2 Nonsynonymous SNV E207D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 259922 chr15 56996335 56996335 T A rs138144081 ZNF280D Synonymous SNV S40S 0.003 0 0 0 3 0 0 0 0 0 0 0 9.225 259923 chr4 79856412 79856412 C T rs780406928 PAQR3 Nonsynonymous SNV V71I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.94 259924 chr4 77230863 77230863 C T rs775301380 STBD1 Stop gain Q263X 0 0 0 2 0 0 0.005 0 0 0 0 0 37 259925 chr16 22337380 22337380 G T rs144892562 POLR3E Synonymous SNV P513P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.336 259926 chr4 78815380 78815380 A T MRPL1 Stop gain K216X 0 0 0 2 0 0 0.005 0 0 0 0 0 42 259927 chr16 2334881 2334881 A T rs138715261 ABCA3 Nonsynonymous SNV F1201Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.84 259928 chr16 2514221 2514221 C T rs372258787 TEDC2 Synonymous SNV H382H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.005 259929 chr16 27078475 27078475 C G rs767695310 C16orf82 Synonymous SNV P53P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.481 259930 chr15 65682562 65682562 A G rs375854706 IGDCC4 Nonsynonymous SNV I780T 0.002 0 0 0 2 0 0 0 0 0 0 0 26 259931 chr1 201081332 201081332 T C CACNA1S Nonsynonymous SNV S46G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 259932 chr4 86921668 86921668 G C rs200818558 ARHGAP24 Nonsynonymous SNV M487I 0 0 0 2 0 0 0.005 0 0 0 0 0 21.2 259933 chr4 98893432 98893432 T C rs1028808467 STPG2 Nonsynonymous SNV Q311R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 259934 chr4 99399839 99399839 G A rs139802406 TSPAN5 Synonymous SNV P191P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.69 259935 chr16 28509637 28509637 C T rs779432782 APOBR Nonsynonymous SNV P1064L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.9 259936 chr16 67762365 67762365 C T rs368737870 RANBP10 Nonsynonymous SNV G381R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 259937 chr15 70957000 70957000 C T rs377649125 UACA 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 259938 chr16 30775520 30775520 C T rs774027359 RNF40 Nonsynonymous SNV R155W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 259939 chr15 73581571 73581571 C T rs756700001 NEO1 Nonsynonymous SNV P1234L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 259940 chr16 69419860 69419860 G C TERF2 Synonymous SNV A5A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 259941 chr4 187026780 187026780 T C FAM149A Nonsynonymous SNV S184P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.1 259942 chr16 3639145 3639145 C T rs146532299 SLX4 Synonymous SNV L1498L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.969 259943 chr16 3639865 3639865 G A rs146054214 SLX4 Synonymous SNV P1258P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.328 259944 chr16 12662456 12662456 C T rs375718452 SNX29 Synonymous SNV R804R 0.002 0 0 0 2 0 0 0 0 0 0 0 14 259945 chr4 113568372 113568374 AAG - rs758793282 LARP7 K225del 0 0 0 1 0 0 0.003 0 0 0 0 0 259946 chr4 114680564 114680564 T C rs187637155 CAMK2D Synonymous SNV A24A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.565 259947 chr4 119738534 119738534 T C SEC24D Synonymous SNV A94A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.778 259948 chr1 210001460 210001460 A G rs138860505 UTP25 Nonsynonymous SNV K18E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 259949 chr16 4744285 4744285 C G rs769213356 NUDT16L1 Nonsynonymous SNV L154V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 259950 chr16 4745105 4745105 G C rs143767115 NUDT16L1 Nonsynonymous SNV K100N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 259951 chr4 128817974 128817974 T C PLK4 Nonsynonymous SNV W876R 0 0 0 1 0 0 0.003 0 0 0 0 0 30 259952 chr4 129793242 129793242 C T rs200122043 JADE1 Nonsynonymous SNV P773L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 259953 chr16 50785787 50785787 A G rs748510262 CYLD Synonymous SNV E259E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.414 259954 chr4 148594873 148594873 G - rs748127912 PRMT9 T51Kfs*28 0 0 0 1 0 0 0.003 0 0 0 0 0 259955 chr4 151738288 151738288 C T rs368450966 LRBA Nonsynonymous SNV G1765R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 259956 chr16 57092038 57092038 G A rs537725824 NLRC5 Nonsynonymous SNV V1241M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 259957 chr15 89400137 89400137 A G rs200437529 ACAN Nonsynonymous SNV T1441A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 259958 chr16 2140367 2140367 G A PKD1 Synonymous SNV A4120A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.923 259959 chr16 58589235 58589235 A G rs145768046 CNOT1 Synonymous SNV Y932Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.035 259960 chr15 90119079 90119079 G T TICRR Nonsynonymous SNV A88S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.34 259961 chr4 156632132 156632132 A T GUCY1A1 Nonsynonymous SNV Q272L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 259962 chr4 164271655 164271655 A G NPY5R Nonsynonymous SNV N77S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 259963 chr1 228362876 228362876 T G IBA57 Nonsynonymous SNV S245A 0.001 0 0 0 1 0 0 0 0 0 0 0 21 259964 chr16 67968728 67968728 G T rs752840220 PSMB10 Nonsynonymous SNV L228M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 259965 chr16 69191041 69191041 G C rs775931648 UTP4 Nonsynonymous SNV D365H 0.002 0 0 0 2 0 0 0 0 0 0 0 31 259966 chr4 177136781 177136781 C T rs202102103 ASB5 Synonymous SNV T320T 0 0 0 2 0 0 0.005 0 0 0 0 0 18.32 259967 chr5 68661332 68661332 C T rs770789569 TAF9 Nonsynonymous SNV R78H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 259968 chr4 186536235 186536235 G A rs373495088 SORBS2 Synonymous SNV H810H 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.904 259969 chr5 1081776 1081776 G A rs200000873 SLC12A7 Nonsynonymous SNV R405C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.3 259970 chr5 9054212 9054212 C T rs142342147 SEMA5A Synonymous SNV T892T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 16.86 259971 chr17 18024060 18024060 C G MYO15A Nonsynonymous SNV P649R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.135 259972 chr17 18024308 18024308 C T rs376451611 MYO15A Nonsynonymous SNV P732S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.232 259973 chr16 19483439 19483439 T C rs757645523 TMC5 Synonymous SNV N358N 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.012 259974 chr5 10391818 10391818 G A rs139229145 MARCHF6 Synonymous SNV A142A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 259975 chr5 10748323 10748323 T C rs763820923 DAP Nonsynonymous SNV E39G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 259976 chr16 55363104 55363104 G A rs146016241 IRX6 Nonsynonymous SNV C405Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 259977 chr16 2086359 2086359 G A rs781464941 SLC9A3R2 Nonsynonymous SNV R39Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 259978 chr5 40854299 40854299 C T rs141558532 CARD6 Synonymous SNV S955S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 259979 chr5 37324126 37324126 G A NUP155 Synonymous SNV S725S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 259980 chr17 2276727 2276727 C T rs148765887 SGSM2 Nonsynonymous SNV R629C 0 0 0 2 0 0 0.005 0 0 0 0 0 25.7 259981 chr5 50059048 50059048 A C PARP8 Nonsynonymous SNV I164L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 259982 chr16 70820270 70820270 T C VAC14 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 259983 chr5 55250797 55250797 T C IL6ST Nonsynonymous SNV K99E 0 0 0 1 0 0 0.003 0 0 0 0 0 19.36 259984 chr16 30671253 30671253 C T rs779278080 FBRS Synonymous SNV I138I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.15 259985 chr16 31366605 31366605 G A rs146949323 ITGAX Synonymous SNV L10L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.038 259986 chr5 55059053 55059053 G A rs753089066 DDX4 Nonsynonymous SNV G86R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.04 259987 chr5 66445340 66445340 G C rs779542474 MAST4 Nonsynonymous SNV S879T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.44 259988 chr16 75576580 75576580 A G rs201412708 TMEM231 Nonsynonymous SNV I248T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 259989 chr17 10534983 10534983 T C rs200191762 MYH3 Nonsynonymous SNV D1744G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 259990 chr16 47117672 47117672 A G NETO2 Synonymous SNV T339T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.411 259991 chr5 70898367 70898367 G A rs553444289 MCCC2 Nonsynonymous SNV V140I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 259992 chr5 71491612 71491612 G A rs765757353 MAP1B Synonymous SNV A684A 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.109 259993 chr16 50756589 50756589 G A rs104895453 NOD2 Nonsynonymous SNV G897D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.15 259994 chr16 50746095 50746095 C T rs104895442 NOD2 Nonsynonymous SNV A731V 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 24.2 259995 chr17 17726900 17726900 C A SREBF1 Nonsynonymous SNV G38V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.935 259996 chr17 17881006 17881006 G A rs748992079 DRC3 Nonsynonymous SNV G32R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 259997 chr5 79361270 79361270 C T rs149672053 THBS4 Synonymous SNV C297C 0 0 0 2 0 0 0.005 0 0 0 0 0 12.31 259998 chr5 79498759 79498759 G A rs556072650 SERINC5 Synonymous SNV V47V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 10.88 259999 chr5 179201522 179201522 G A rs776314354 MAML1 Nonsynonymous SNV V899M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.296 260000 chr2 38956836 38956836 C G rs139320905 GALM Nonsynonymous SNV A258G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 260001 chr5 180047261 180047261 G A FLT4 Synonymous SNV D818D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.821 260002 chr5 180051059 180051059 C T rs747401546 FLT4 Nonsynonymous SNV R475Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 12.29 260003 chr17 2291209 2291209 G A rs61733098 MNT Synonymous SNV R314R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.093 260004 chr2 46607503 46607503 C T rs965825554 EPAS1 Synonymous SNV F564F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 260005 chr16 67237417 67237417 C T ELMO3 Synonymous SNV A627A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.215 260006 chr16 67573762 67573762 T C rs183863939 RIPOR1 Nonsynonymous SNV I129T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.54 260007 chr5 102433070 102433070 G C GIN1 Nonsynonymous SNV A172G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 260008 chr16 67701959 67701959 G T C16orf86 Nonsynonymous SNV A171S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 260009 chr16 67865182 67865182 G A rs776120648 CENPT Nonsynonymous SNV R214C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.8 260010 chr16 68109271 68109271 C T DUS2 Nonsynonymous SNV L281F 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 260011 chr17 26946877 26946877 C A KIAA0100 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 260012 chr5 110411702 110411702 G C rs140730628 TSLP Nonsynonymous SNV C41S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 260013 chr17 27052524 27052524 G A TLCD1 Synonymous SNV G37G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.42 260014 chr2 54587508 54587508 C A rs190097128 C2orf73 Nonsynonymous SNV Q104K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 260015 chr16 70697934 70697934 G A rs368962043 MTSS2 Synonymous SNV L630L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.765 260016 chr17 2865882 2865882 C T rs1016969031 LOC101927911 0.001 0 0 0 1 0 0 0 0 0 0 0 7.347 260017 chr5 112874834 112874834 A T rs139636169 YTHDC2 Nonsynonymous SNV Y89F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.36 260018 chr5 160061528 160061528 T C ATP10B Nonsynonymous SNV Y377C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 260019 chr17 32583284 32583284 T C rs371187910 CCL2 Synonymous SNV N40N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.718 260020 chr16 72923695 72923695 A G rs770890601 ZFHX3 Nonsynonymous SNV L214P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 260021 chr17 33771681 33771681 G A rs116655050 SLFN13 Nonsynonymous SNV P340L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.909 260022 chr17 3392575 3392575 C T ASPA Synonymous SNV I191I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.04 260023 chr16 75682299 75682299 G T rs767635459 TERF2IP Synonymous SNV T173T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 260024 chr17 34867266 34867266 T C rs748847256 MYO19 Nonsynonymous SNV N308S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.11 260025 chr5 175959042 175959042 G C RNF44 Nonsynonymous SNV T87S 0.003 0 0 0 3 0 0 0 0 0 0 0 16.47 260026 chr5 132227890 132227890 T G AFF4 Nonsynonymous SNV E868A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 260027 chr17 36091698 36091698 T C rs34973944 HNF1B Synonymous SNV Q311Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.204 260028 chr16 81219213 81219213 C T rs117533566 PKD1L2 Synonymous SNV P627P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.707 260029 chr17 36492878 36492878 G A rs147753316 GPR179 Nonsynonymous SNV R404C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 260030 chr5 176931549 176931549 C T rs777844888 DOK3 Nonsynonymous SNV R253H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.52 260031 chr16 81303775 81303775 C T rs183054266 BCO1 Synonymous SNV H285H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.615 260032 chr5 138732588 138732588 C T SPATA24 Synonymous SNV K173K 0 0 0 2 0 0 0.005 0 0 0 0 0 13.96 260033 chr16 85699820 85699820 C T rs772175137 GSE1 Synonymous SNV D895D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.19 260034 chr5 140742034 140742034 C T rs771966305 PCDHGB2 Stop gain Q778X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 260035 chr16 87868022 87868022 A G SLC7A5 Nonsynonymous SNV I489T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.06 260036 chr17 27185635 27185635 G C ERAL1 Synonymous SNV T250T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.268 260037 chr16 88503486 88503486 G A ZNF469 Nonsynonymous SNV R3203H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 260038 chr2 113785683 113785683 T C rs148655336 IL36B Nonsynonymous SNV I91V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.688 260039 chr6 17688732 17688732 G A rs543593216 NUP153 Nonsynonymous SNV R77C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 260040 chr17 40120460 40120460 C T rs112899212 CNP Synonymous SNV H106H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.38 260041 chr17 41908943 41908943 A G MPP3 Nonsynonymous SNV L68P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 260042 chr17 34190516 34190516 C T rs115881734 HEATR9 Synonymous SNV L165L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.28 260043 chr5 154173392 154173392 C A rs770718972 LARP1 Nonsynonymous SNV P96T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.411 260044 chr17 1411432 1411432 C G rs61733755 INPP5K Nonsynonymous SNV G215R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.13 260045 chr17 38644993 38644993 G A TNS4 Nonsynonymous SNV P223L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 260046 chr17 1538318 1538318 G A rs372315017 SCARF1 Nonsynonymous SNV P743S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.69 260047 chr17 15974941 15974941 G A NCOR1 Nonsynonymous SNV L1328F 0.002 0 0 0 2 0 0 0 0 0 0 0 26 260048 chr17 72522099 72522099 A G rs756384831 CD300LB Nonsynonymous SNV V53A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 260049 chr6 36995221 36995221 C T rs145864024 FGD2 Nonsynonymous SNV T541M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.31 260050 chr6 38690894 38690894 G A rs768999060 DNAH8 Synonymous SNV L103L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.073 260051 chr2 166758247 166758247 G A rs73018799 TTC21B Synonymous SNV C914C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.568 260052 chr17 18183963 18183963 G A rs149912401 TOP3A Synonymous SNV L582L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.88 260053 chr17 74004060 74004060 C G rs745368257 EVPL Nonsynonymous SNV K1764N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 260054 chr6 43193876 43193876 C T rs144004836 DNPH1 Nonsynonymous SNV V91M 0.002 0 0 0 2 0 0 0 0 0 0 0 31 260055 chr17 41352245 41352245 T C rs376743455 NBR1 Synonymous SNV A675A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.597 260056 chr6 53409332 53409332 T A GCLC Stop gain K38X 0.003 0 0 0 3 0 0 0 0 0 0 0 36 260057 chr6 109885417 109885417 T G rs201166033 AK9 Nonsynonymous SNV K834T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 260058 chr17 27076453 27076453 G A rs144429633 TRAF4 Nonsynonymous SNV R424Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 260059 chr17 62130260 62130260 G A rs775944658 ERN1 Synonymous SNV D711D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.516 260060 chr6 28116455 28116455 C - ZKSCAN8 L91Wfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 260061 chr6 26189119 26189119 G A rs761302691 H4C4 Synonymous SNV F62F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.738 260062 chr17 3628727 3628727 C G HASPIN Nonsynonymous SNV Q500E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 260063 chr17 70120301 70120301 A G rs202126529 SOX9 Nonsynonymous SNV I435V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 260064 chr2 204064110 204064110 A G rs374901093 NBEAL1 Nonsynonymous SNV Y2364C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 260065 chr6 90572784 90572784 T C rs34701151 CASP8AP2 Synonymous SNV D452D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.041 260066 chr2 207631632 207631632 A G rs757378301 FASTKD2 Nonsynonymous SNV D72G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 260067 chr6 43006119 43006119 C T rs139243761 CUL7 Synonymous SNV E1637E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.76 260068 chr18 25565006 25565006 C T rs151110746 CDH2 Nonsynonymous SNV G692S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 260069 chr17 55957037 55957037 C T rs761158186 CUEDC1 Synonymous SNV P133P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 260070 chr6 111279993 111279993 G A GTF3C6 Synonymous SNV E7E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.123 260071 chr17 56382426 56382426 C T rs201985313 TSPOAP1 Nonsynonymous SNV S1787N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 260072 chr17 56386285 56386285 C A rs549839489 TSPOAP1 Nonsynonymous SNV G1390C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 260073 chr6 111695534 111695534 G C REV3L Nonsynonymous SNV Q1342E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 260074 chr6 41533595 41533595 G A rs41273784 FOXP4 Nonsynonymous SNV G33R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.74 260075 chr17 39465330 39465330 C T rs571469721 KRTAP16-1 Nonsynonymous SNV R59H 0.002 0 0 0 2 0 0 0 0 0 0 0 25 260076 chr6 158924418 158924418 C T rs766052529 TULP4 Synonymous SNV P1241P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.22 260077 chr17 74474946 74474946 C T rs368715327 RHBDF2 Nonsynonymous SNV R205H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 260078 chr6 132198238 132198238 C A ENPP1 Synonymous SNV P610P 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 12.61 260079 chr2 220435397 220435397 G A rs775618668 OBSL1 Synonymous SNV D186D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.172 260080 chr18 47375998 47375998 C G rs763072671 MYO5B Nonsynonymous SNV K1418N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 260081 chr17 40004413 40004413 A C rs375416658 KLHL10 Nonsynonymous SNV S473R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.96 260082 chr17 40257081 40257081 C T rs782043771 DHX58 Synonymous SNV V452V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.91 260083 chr6 46605576 46605576 A T rs367672552 CYP39A1 Nonsynonymous SNV C38S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 260084 chr6 46657656 46657656 T G rs762938885 TDRD6 Synonymous SNV A597A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.649 260085 chr2 225635336 225635336 T C rs781352125 DOCK10 Synonymous SNV A2071A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.193 260086 chr17 70117751 70117751 C A rs762031615 SOX9 Synonymous SNV I73I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.26 260087 chr17 41606971 41606971 C A rs201551646 ETV4 Synonymous SNV L66L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.79 260088 chr17 41891584 41891584 G A rs187787904 MPP3 Synonymous SNV P410P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.97 260089 chr17 76694908 76694908 G C rs138731073 CYTH1 Synonymous SNV L172L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.149 260090 chr17 45895890 45895890 G A rs149821614 OSBPL7 Synonymous SNV P154P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.934 260091 chr6 82920617 82920617 C T rs143320663 IBTK Nonsynonymous SNV C808Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 260092 chr17 79532607 79532607 G A rs374808635 NPLOC4 Synonymous SNV A536A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.65 260093 chr6 89790730 89790730 G A rs148016809 PNRC1 Synonymous SNV P39P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.66 260094 chr17 79973055 79973055 C T rs761793658 ASPSCR1 Synonymous SNV G486G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.79 260095 chr17 80051281 80051281 G T rs776083528 FASN Nonsynonymous SNV L157M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 260096 chr6 90573439 90573439 G C rs762670083 CASP8AP2 Nonsynonymous SNV E671Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.152 260097 chr17 75202867 75202867 G C SEC14L1 Nonsynonymous SNV D433H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 260098 chr17 76818019 76818019 C T USP36 Nonsynonymous SNV V253M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260099 chr3 9714369 9714369 T C rs199688667 MTMR14 Synonymous SNV N226N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.288 260100 chr6 116910028 116910028 G A rs758027638 RWDD1 Synonymous SNV V98V 0 0 0 2 0 0 0.005 0 0 0 0 0 10.48 260101 chr17 56833457 56833457 - GAACCCGAACCCGAACCCGAACCC PPM1E E44_S45insPEPEPEPE 0.002 0 0 0 2 0 0 0 0 0 0 0 260102 chr18 22902012 22902012 G A rs185598321 ZNF521 Synonymous SNV S60S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.05 260103 chr6 118880200 118880200 T G rs111033560 PLN Stop gain L39X 0 0 0 2 0 0 0.005 0 0 0 0 0 Pathogenic/Likely pathogenic 36 260104 chr6 132910681 132910681 C T rs763077527 TAAR5 Nonsynonymous SNV V49M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 260105 chr17 61566020 61566020 G A rs143830698 ACE Nonsynonymous SNV V199M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 260106 chr6 127767630 127767630 G C KIAA0408 Nonsynonymous SNV Q612E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.53 260107 chr6 135303626 135303626 T C rs200625517 HBS1L Nonsynonymous SNV M481V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 260108 chr6 142399827 142399827 A G rs777562672 NMBR Synonymous SNV H64H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.012 260109 chr19 12154715 12154715 G A rs956910225 ZNF878 Nonsynonymous SNV H501Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.9 260110 chr17 6371557 6371557 C G rs76024428 PITPNM3 Nonsynonymous SNV Q590H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.23 260111 chr7 6554008 6554008 G A GRID2IP Nonsynonymous SNV T474I 0.003 0 0 0 3 0 0 0 0 0 0 0 24 260112 chr7 48007447 48007447 T C HUS1 Nonsynonymous SNV Q218R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.97 260113 chr18 3457446 3457446 A T rs371759253 TGIF1 Synonymous SNV T112T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 260114 chr18 44190774 44190774 T C LOXHD1 Nonsynonymous SNV N242D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 260115 chr18 44261935 44261935 C T ST8SIA5 Nonsynonymous SNV R190K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 260116 chr17 70645058 70645058 G A rs899208717 SLC39A11 Synonymous SNV V278V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.42 260117 chr19 15164439 15164439 C T rs61755277 CASP14 Synonymous SNV A58A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.06 260118 chr6 157100080 157100088 GGCGGCGGC - ARID1B A348_A350del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 260119 chr18 65178235 65178235 C T rs200609098 DSEL Nonsynonymous SNV R1204H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 260120 chr6 161470840 161470840 C T MAP3K4 Synonymous SNV S512S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.692 260121 chr18 6959459 6959459 G C rs143933905 LAMA1 Nonsynonymous SNV N2553K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.57 260122 chr18 7231865 7231865 C T rs72904163 LRRC30 Synonymous SNV D243D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.216 260123 chr18 77246756 77246756 G A rs368703221 NFATC1 Synonymous SNV A395A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.672 260124 chr18 45567039 45567039 T C rs764900937 ZBTB7C Nonsynonymous SNV D147G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.182 260125 chr17 76089062 76089062 T C rs202164617 TNRC6C Nonsynonymous SNV I1337T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 260126 chr19 19917815 19917815 G A rs577132629 ZNF506 Synonymous SNV D22D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.771 260127 chr17 76481167 76481167 T A DNAH17-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.451 260128 chr7 2583264 2583264 C T rs149503475 BRAT1 Nonsynonymous SNV A80T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.82 260129 chr3 49200921 49200921 G A CCDC71 Nonsynonymous SNV R241C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 260130 chr7 2958190 2958190 G A rs753952757 CARD11 Nonsynonymous SNV R848C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 26.4 260131 chr19 10610690 10610690 G C KEAP1 Nonsynonymous SNV P7R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 260132 chr17 78184516 78184516 G C rs778602791 SGSH Nonsynonymous SNV T415S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.95 260133 chr3 50603034 50603034 C T rs200948192 C3orf18 Nonsynonymous SNV E33K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 260134 chr7 7712942 7712971 AGCAGCAGCAGCAGCAGCAGCAGCAGCAGC - UMAD1 0.001 0 0 2 1 0 0.005 0 0 0 0 0 260135 chr18 72245549 72245549 C T rs536184259 CNDP1 Nonsynonymous SNV A385V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 260136 chr17 80043166 80043166 G A FASN Nonsynonymous SNV P1412L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 260137 chr7 101845333 101845333 T C CUX1 Nonsynonymous SNV M930T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 260138 chr7 32914704 32914704 G C KBTBD2 Nonsynonymous SNV A79G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 260139 chr3 97583340 97583340 G A rs771173818 CRYBG3 Nonsynonymous SNV G166R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 260140 chr17 8381722 8381722 C T MYH10 Synonymous SNV K1849K 0.002 0 0 0 2 0 0 0 0 0 0 0 17.9 260141 chr7 44805806 44805806 A C ZMIZ2 Synonymous SNV P736P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.571 260142 chr7 33148980 33148980 G A rs1010772189 RP9 Nonsynonymous SNV S2L 0 0 0 2 0 0 0.005 0 0 0 0 1 Uncertain significance 26.3 260143 chr3 108189680 108189680 G A rs377035535 MYH15 Synonymous SNV V436V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.794 260144 chr18 224158 224158 C T rs747161472 THOC1 Synonymous SNV T410T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 260145 chr19 17108095 17108095 G A rs202173805 CPAMD8 Synonymous SNV D307D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.497 260146 chr19 17346813 17346813 G A rs931457611 NR2F6 Synonymous SNV S145S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 260147 chr7 44556889 44556889 T C rs759444959 NPC1L1 Synonymous SNV A1068A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.353 260148 chr19 17650165 17650165 G A rs202025122 NIBAN3 Nonsynonymous SNV A241T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 260149 chr7 73011648 73011648 G T rs563363573 MLXIPL Synonymous SNV S489S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 4.586 260150 chr18 32455318 32455318 C A DTNA Nonsynonymous SNV S283Y 0.002 0 0 0 2 0 0 0 0 0 0 0 32 260151 chr18 43534568 43534568 G A rs180913079 EPG5 Nonsynonymous SNV S267L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 25.9 260152 chr3 122329435 122329435 A G PARP15 Nonsynonymous SNV Q134R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 260153 chr18 47796086 47796086 A G MBD1 Nonsynonymous SNV L523P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.845 260154 chr18 48703183 48703183 A G MEX3C Synonymous SNV A506A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.02 260155 chr19 2434944 2434944 G A rs772537969 MIR7108 0.002 0 0 0 2 0 0 0 0 0 0 0 4.195 260156 chr3 127379955 127379955 G A rs115718971 PODXL2 Nonsynonymous SNV G362R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.79 260157 chr19 33666312 33666312 G T rs764181250 WDR88 Nonsynonymous SNV C418F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 260158 chr7 97822958 97822958 G A rs3801295 LMTK2 Nonsynonymous SNV D1061N 0 0 0 2 0 0 0.005 0 0 0 0 0 8.03 260159 chr7 99017747 99017747 T C rs762744038 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV E649G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.33 260160 chr7 130365814 130365814 G T rs782579961 TSGA13 Nonsynonymous SNV N48K 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 260161 chr7 100285646 100285646 A G rs776661908 GIGYF1 Synonymous SNV Y41Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.202 260162 chr18 66504550 66504550 A G rs747293368 CCDC102B Nonsynonymous SNV I184V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 260163 chr8 1728539 1728539 G C CLN8 Nonsynonymous SNV V223L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.081 260164 chr19 36124837 36124837 G A rs769730572 RBM42 Synonymous SNV P282P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 260165 chr19 48337708 48337708 C T rs762715327 CRX Nonsynonymous SNV A3V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 260166 chr19 2933648 2933648 C T rs764036758 ZNF77 Nonsynonymous SNV E493K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 260167 chr18 8786059 8786059 G A MTCL1 Synonymous SNV G619G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.211 260168 chr3 167078503 167078503 A G rs756805919 ZBBX Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.538 260169 chr7 149474024 149474024 A T rs200197861 SSPO 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.75 260170 chr19 38573366 38573366 G A rs61729135 SIPA1L3 Synonymous SNV S387S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.593 260171 chr19 38632048 38632048 G A rs199893062 SIPA1L3 Nonsynonymous SNV R1123Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 260172 chr19 38834301 38834301 T A rs983115015 CATSPERG Nonsynonymous SNV F136I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 260173 chr19 38834302 38834302 T A rs907550847 CATSPERG Nonsynonymous SNV F136Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 260174 chr19 10450270 10450299 GGATGGTACCATGGTGGCCATTCTGACAGA - ICAM3 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 260175 chr19 35758730 35758730 T G LSR Nonsynonymous SNV L532V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 260176 chr7 100681652 100681652 C T rs144494200 MUC17 Nonsynonymous SNV P2319S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.564 260177 chr19 39590868 39590868 A G rs199993266 ACP7 Synonymous SNV G169G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 260178 chr19 51135644 51135644 C G rs148772753 SYT3 Nonsynonymous SNV E191D 0.003 0.005 0 1 3 2 0.003 0 0 0 0 0 12.67 260179 chr7 105172793 105172793 C T RINT1 Nonsynonymous SNV P11S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.39 260180 chr7 106508589 106508589 C G PIK3CG Nonsynonymous SNV L195V 0 0 0 2 0 0 0.005 0 0 0 0 0 20.1 260181 chr7 106938702 106938702 T C rs372144586 COG5 Nonsynonymous SNV S431G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 260182 chr19 40877595 40877595 G A rs145999145 PLD3 Nonsynonymous SNV V232M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 29.9 260183 chr19 36498046 36498046 C G rs765624055 SYNE4 Nonsynonymous SNV S135T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 260184 chr19 37241188 37241188 G T ZNF850 Nonsynonymous SNV P220T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 260185 chr19 11687604 11687604 C T rs148219285 ACP5 Nonsynonymous SNV V106M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Uncertain significance 25.3 260186 chr7 122338188 122338188 C T rs773033412 RNF133 Nonsynonymous SNV R262H 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 260187 chr19 42872766 42872766 G A rs760521667 MEGF8 Nonsynonymous SNV D2078N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.86 260188 chr8 28628579 28628579 G T INTS9 Nonsynonymous SNV P507T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 260189 chr19 13923971 13923971 C T rs372756689 ZSWIM4 Synonymous SNV P391P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.29 260190 chr19 39225495 39225495 C T rs750315892 CAPN12 Nonsynonymous SNV A568T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 260191 chr19 1495334 1495334 G A rs756089270 REEP6 Nonsynonymous SNV G53R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.3 260192 chr7 134618110 134618110 A T rs756573441 CALD1 Nonsynonymous SNV K191M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 260193 chr19 34818753 34818753 G A rs199991533 KIAA0355 Synonymous SNV A308A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 260194 chr8 13357316 13357316 C T rs150090193 DLC1 Nonsynonymous SNV D89N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 18.72 260195 chr19 15586518 15586518 C T rs780896961 PGLYRP2 Synonymous SNV Q321Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.212 260196 chr19 44739419 44739419 G C ZNF227 Nonsynonymous SNV S200T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.326 260197 chr19 35832269 35832269 C T rs745645352 CD22 Nonsynonymous SNV R334W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 260198 chr19 4154963 4154963 G A rs200917098 CREB3L3 Nonsynonymous SNV R32Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.8 260199 chr19 42187715 42187715 C T rs782336487 CEACAM7 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 260200 chr8 21996561 21996561 A C REEP4 Nonsynonymous SNV L144R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.8 260201 chr19 4548178 4548178 G A rs746708174 SEMA6B Nonsynonymous SNV R488W 0.002 0 0 0 2 0 0 0 0 0 0 0 22 260202 chr8 94745903 94745903 C T RBM12B Nonsynonymous SNV M912I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 260203 chr19 17722663 17722663 G A rs141334897 UNC13A Synonymous SNV G1520G 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.94 260204 chr8 100832198 100832198 A G rs145265055 VPS13B Nonsynonymous SNV I2973V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.221 260205 chr8 27348818 27348818 G C EPHX2 Synonymous SNV A31A 0.003 0 0 0 4 0 0 0 0 0 0 0 16.74 260206 chr19 48052662 48052662 G A ZNF541 Nonsynonymous SNV R130W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260207 chr19 4816829 4816829 C T rs150740529 TICAM1 Nonsynonymous SNV A521T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.8 260208 chr19 55997780 55997780 C T rs374556132 NAT14 Synonymous SNV G26G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.28 260209 chr8 110308681 110308681 C A NUDCD1 Nonsynonymous SNV D102Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 260210 chr19 18705204 18705204 G A rs770841163 CRLF1 Synonymous SNV G355G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.64 260211 chr19 48908248 48908248 G T rs77992710 GRIN2D Synonymous SNV A241A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.449 260212 chr7 154760826 154760826 G C PAXIP1 Nonsynonymous SNV T362S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.285 260213 chr19 40723112 40723112 G C rs372036106 TTC9B Nonsynonymous SNV R198G 0 0.003 0 0 0 1 0 0 0 0 0 0 27 260214 chr19 49002998 49002998 C G rs757078019 LMTK3 Nonsynonymous SNV R472P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29 260215 chr19 40889902 40889902 C T rs757043623 HIPK4 Nonsynonymous SNV V204I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.31 260216 chr7 155504070 155504070 G A rs754990557 RBM33 Synonymous SNV P374P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.093 260217 chr8 124121819 124121819 A C rs746947181 TBC1D31 Nonsynonymous SNV K360N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 260218 chr4 17638189 17638189 G T FAM184B Nonsynonymous SNV R916S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 260219 chr19 42778389 42778389 G A CIC Synonymous SNV V818V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.142 260220 chr19 58639774 58639774 G C ZNF329 Nonsynonymous SNV T366S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.55 260221 chr8 141321377 141321377 G A rs768262663 TRAPPC9 Nonsynonymous SNV P522L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 260222 chr8 10466934 10466934 G A rs372744963 RP1L1 Synonymous SNV A1558A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.703 260223 chr19 51022136 51022136 C T rs558242111 LRRC4B Synonymous SNV S278S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.86 260224 chr19 5921246 5921246 C T rs772882759 RANBP3 Synonymous SNV A359A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 260225 chr4 48582917 48582917 G A rs199881757 FRYL Nonsynonymous SNV L742F 0.001 0 0 0 1 0 0 0 0 0 0 0 28 260226 chr4 57797342 57797342 A G rs199816806 REST Nonsynonymous SNV Q773R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.182 260227 chr8 19816888 19816888 C T rs76708715 LPL Nonsynonymous SNV T379I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 260228 chr19 36303549 36303549 G A rs200759159 PRODH2 Synonymous SNV V129V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.893 260229 chr19 36357406 36357406 T C rs148345309 KIRREL2 Nonsynonymous SNV W574R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.939 260230 chr4 69095170 69095170 G A rs201912154 TMPRSS11B Nonsynonymous SNV R251W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 260231 chr19 36357428 36357428 A G KIRREL2 Nonsynonymous SNV N581S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.017 260232 chr19 36550903 36550903 C A rs139371621 WDR62 Nonsynonymous SNV N101K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 260233 chr4 74353522 74353522 A - rs768775453 AFM V234Lfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 260234 chr8 25182970 25182970 A G rs940026910 DOCK5 Nonsynonymous SNV K604E 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 260235 chr8 134050854 134050854 C T rs200951688 SLA Nonsynonymous SNV R222Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 23.7 260236 chr8 27779550 27779550 C T rs766861715 SCARA5 Nonsynonymous SNV A152T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.31 260237 chr4 79291095 79291095 C T rs775694534 FRAS1 Synonymous SNV C942C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 260238 chr8 136594128 136594128 G C rs200026165 KHDRBS3 Nonsynonymous SNV G207R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.3 260239 chr19 38655272 38655272 G A rs143141927 SIPA1L3 Nonsynonymous SNV D1312N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 260240 chr8 30546710 30546710 G A rs924461400 GSR Nonsynonymous SNV P308S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 260241 chr4 85564188 85564188 C T CDS1 Synonymous SNV S348S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 260242 chr8 39133379 39133379 C T rs183670899 ADAM32 Nonsynonymous SNV T659I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.39 260243 chr8 48586400 48586400 G C SPIDR Nonsynonymous SNV G33R 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 260244 chr19 40520761 40520761 C T rs141058553 ZNF546 Synonymous SNV N502N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.58 260245 chr8 67590053 67590053 G A rs200113060 C8orf44 0 0 0.007 1 0 0 0.003 2 0 0 0 0 6.565 260246 chr8 69017384 69017384 A G rs200772934 PREX2 Synonymous SNV S909S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.944 260247 chr19 41699267 41699267 C G CYP2S1 Nonsynonymous SNV P33R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.2 260248 chr8 72966028 72966028 T C TRPA1 Nonsynonymous SNV D535G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 260249 chr19 54742918 54742918 T A rs199554536 LILRA6 Nonsynonymous SNV M453L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 260250 chr19 54848163 54848163 T C rs149289201 LILRA4 Nonsynonymous SNV N402D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.006 260251 chr19 54868571 54868571 G C rs200569333 LAIR1 Synonymous SNV P122P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 260252 chr4 114072244 114072244 C G rs939727189 ANK2 Nonsynonymous SNV C31W 0.002 0 0 0 2 0 0 0 0 0 0 0 9.15 260253 chr8 93003895 93003895 C T rs371664119 RUNX1T1 Synonymous SNV R284R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.35 260254 chr9 37422790 37422790 A T GRHPR Nonsynonymous SNV I15L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 260255 chr8 94745991 94745991 C T RBM12B Nonsynonymous SNV R883H 0 0 0 1 0 0 0.003 0 0 0 0 0 26 260256 chr8 94935196 94935196 C T rs146222349 PDP1 Synonymous SNV G303G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.914 260257 chr19 42801491 42801491 G A rs778929087 PAFAH1B3 Synonymous SNV P145P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.786 260258 chr8 95444400 95444400 T C rs79346983 FSBP Nonsynonymous SNV I287V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.098 260259 chr19 4328706 4328706 C T rs757979984 STAP2 Nonsynonymous SNV G186S 0.003 0 0 0 3 0 0 0 1 0 0 0 13.05 260260 chr19 44284870 44284870 C A rs550354667 KCNN4 Nonsynonymous SNV W48C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.7 260261 chr8 101149874 101149874 A T rs759048586 FBXO43 Nonsynonymous SNV N531K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 260262 chr8 101020670 101020670 T C RGS22 Nonsynonymous SNV Y584C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 260263 chr8 145171125 145171125 C T rs750207651 WDR97 Nonsynonymous SNV P1600S 0.004 0.003 0 0 5 1 0 0 0 0 0 0 26 260264 chr19 58153396 58153396 T C rs140455403 ZNF211 Synonymous SNV C453C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.121 260265 chr8 145693355 145693355 C T KIFC2 Synonymous SNV P265P 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.078 260266 chr8 110477148 110477148 G C rs780890319 PKHD1L1 Nonsynonymous SNV W2696S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 260267 chr8 110488886 110488886 A G rs180747472 PKHD1L1 Synonymous SNV L2969L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.578 260268 chr8 118847704 118847704 G A rs376640197 EXT1 Synonymous SNV G381G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 260269 chr19 629957 629957 C G rs770538776 POLRMT Nonsynonymous SNV M135I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 260270 chr9 94821516 94821516 T C SPTLC1 Nonsynonymous SNV N212S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 260271 chr19 56614364 56614364 C T ZNF787 Nonsynonymous SNV A75T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 260272 chr19 56701406 56701406 T C rs201750979 ZSCAN5B Synonymous SNV L426L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 260273 chr19 7591695 7591695 G A rs955372943 MCOLN1 Nonsynonymous SNV G152S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.31 260274 chr19 57328801 57328801 G A rs199700994 PEG3 Nonsynonymous SNV R182W 0.001 0 0 0 1 0 0 0 0 0 0 0 21 260275 chr9 18775790 18775790 G A rs553601312 ADAMTSL1 Nonsynonymous SNV R816Q 0.002 0 0 0 2 0 0 0 0 0 0 0 4.468 260276 chr8 133899419 133899419 C T rs139516987 TG Nonsynonymous SNV T601M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.181 260277 chr19 58551905 58551905 C A rs775194762 ZSCAN1 Nonsynonymous SNV P153Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 260278 chr8 144332424 144332424 C A rs201072788 ZFP41 Nonsynonymous SNV H137Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 260279 chr1 153617593 153617593 C T rs199527132 CHTOP Nonsynonymous SNV R153C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 260280 chr8 144940614 144940614 C T rs200821582 EPPK1 Nonsynonymous SNV G2270S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 260281 chr4 187549808 187549808 A G rs370782962 FAT1 Nonsynonymous SNV I1478T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 260282 chr19 9075064 9075064 T C rs200764405 MUC16 Nonsynonymous SNV R4128G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.241 260283 chr9 125146019 125146019 C T rs201808321 PTGS1 Nonsynonymous SNV R284C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 260284 chr19 9082798 9082798 G A rs200424435 MUC16 Nonsynonymous SNV S3006L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.497 260285 chr1 155823479 155823479 G A rs748045922 GON4L Synonymous SNV A31A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.04 260286 chr19 50154769 50154769 G A rs572089161 SCAF1 Nonsynonymous SNV G375S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 260287 chr5 6449255 6449255 C T rs765506914 UBE2QL1 Synonymous SNV D83D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 260288 chr5 6449258 6449258 C T UBE2QL1 Synonymous SNV G84G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 260289 chr9 125487015 125487015 G A rs770525069 OR1L4 Synonymous SNV V249V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.029 260290 chr19 50964938 50964938 C T rs748482674 MYBPC2 Nonsynonymous SNV T1024M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 260291 chr19 8615525 8615525 C T rs563135856 MYO1F Synonymous SNV Q271Q 0.003 0.008 0 0 3 3 0 0 0 0 0 0 5.366 260292 chr19 861925 861925 G C CFD Nonsynonymous SNV C202S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 260293 chr8 145577160 145577160 C T TMEM249 Nonsynonymous SNV R154H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 260294 chr8 145581444 145581444 G A rs782600767 FBXL6 Nonsynonymous SNV A140V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 22.4 260295 chr9 2170461 2170461 A G SMARCA2 Nonsynonymous SNV I1414M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 260296 chr5 16453203 16453203 C T rs149586170 ZNF622 Nonsynonymous SNV A409T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 260297 chr1 101186046 101186046 A G rs746814193 VCAM1 Nonsynonymous SNV I27V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.818 260298 chr19 51857790 51857790 C T rs755221189 ETFB Nonsynonymous SNV V35I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.01 260299 chr19 9009640 9009640 C A MUC16 Nonsynonymous SNV R13029L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.997 260300 chr9 8486278 8486278 C A rs143787300 PTPRD Nonsynonymous SNV V847L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.17 260301 chr19 52619939 52619939 G C ZNF616 Nonsynonymous SNV L160V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 260302 chr19 9063159 9063159 G A rs753425142 MUC16 Nonsynonymous SNV T8096M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.139 260303 chr9 117118306 117118306 G T AKNA Nonsynonymous SNV T867K 0.003 0 0 0 3 0 0 0 0 0 0 0 11.82 260304 chr9 20929508 20929524 CAAGTGCTGATGAGTCT - FOCAD A1079Rfs*18 0 0 0 1 0 0 0.003 0 0 0 0 0 260305 chr9 33462709 33462709 C T NOL6 Nonsynonymous SNV G685S 0 0 0 1 0 0 0.003 0 0 0 0 0 35 260306 chr19 53741443 53741443 G A rs144707444 ZNF677 Synonymous SNV A179A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.951 260307 chr1 118165727 118165727 T C rs368458218 TENT5C Synonymous SNV V79V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 260308 chr9 125273713 125273713 C T rs140778148 OR1J2 Synonymous SNV F211F 0.002 0 0 0 2 0 0 0 0 0 0 0 2.387 260309 chr5 61876124 61876124 G A LRRC70 Nonsynonymous SNV D287N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 260310 chr9 125316005 125316005 G T OR1N2 Nonsynonymous SNV C172F 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 260311 chr9 35662630 35662630 C T rs150480093 ARHGEF39 Nonsynonymous SNV R261Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 260312 chr9 36170201 36170201 G A CCIN Synonymous SNV V234V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.118 260313 chr19 54844925 54844925 C T rs150787711 LILRA4 Nonsynonymous SNV S473N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 260314 chr9 90256904 90256904 A G DAPK1 Synonymous SNV A283A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.647 260315 chr9 139370945 139370945 A C rs375601006 SEC16A Nonsynonymous SNV F375V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 260316 chr9 130223502 130223502 G A LRSAM1 Synonymous SNV G124G 0.003 0 0 0 4 0 0 0 0 0 0 0 11.28 260317 chr1 150532625 150532625 C G rs145169593 ADAMTSL4 Nonsynonymous SNV R1060G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.6 260318 chr9 139637330 139637330 G A rs142578827 LCN10 Nonsynonymous SNV A9V 0.003 0 0 0 3 0 0 0 0 0 0 0 14.8 260319 chr1 152059319 152059319 G A rs145238234 TCHHL1 Nonsynonymous SNV T280I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 260320 chr5 78734935 78734935 G A rs200295734 HOMER1 Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 260321 chr9 139943198 139943198 - GAC rs762099217 ENTPD2 V443_L444insV 0.003 0.003 0 0 4 1 0 0 0 0 0 0 260322 chr9 97063062 97063062 G T ZNF169 Nonsynonymous SNV G217W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 260323 chr1 117311168 117311168 T C rs999871668 CD2 Synonymous SNV P299P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.014 260324 chr9 134308070 134308070 C G PRRC2B Nonsynonymous SNV A61G 0.003 0 0 0 4 0 0 0 0 0 0 0 32 260325 chr1 155030497 155030497 G A ADAM15 Synonymous SNV Q539Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.881 260326 chr1 155030498 155030498 C G ADAM15 Nonsynonymous SNV Q540E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 260327 chr9 112219583 112219583 C T rs576352362 PTPN3 Nonsynonymous SNV V79M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 260328 chr9 135117391 135117391 G C rs770784512 NTNG2 Nonsynonymous SNV D496H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.46 260329 chr1 156216005 156216005 G A rs200440673 PAQR6 Nonsynonymous SNV R30C 0.002 0 0 0 2 0 0 0 0 0 0 0 17.84 260330 chr19 577815 577815 G C rs898272348 BSG Nonsynonymous SNV G37R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 260331 chr1 158532597 158532597 G T rs142215019 OR6P1 Stop gain Y266X 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 35 260332 chr1 158532614 158532614 G C OR6P1 Nonsynonymous SNV R261G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 260333 chr5 112174549 112174549 C T rs778031876 APC Synonymous SNV H1068H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.565 260334 chr10 13040378 13040378 G A rs144679549 CCDC3 Nonsynonymous SNV A170V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.211 260335 chr1 150305596 150305596 A C rs782010113 PRPF3 Synonymous SNV A218A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.309 260336 chr9 123370138 123370138 T G rs767201697 MEGF9 Nonsynonymous SNV K413T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.85 260337 chr19 59074784 59074784 C A MZF1 Nonsynonymous SNV G287V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.31 260338 chr5 134870792 134870792 A G NEUROG1 Nonsynonymous SNV S197P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 260339 chr9 126143893 126143893 G A DENND1A Synonymous SNV L961L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.381 260340 chr1 155220346 155220346 G A FAM189B Nonsynonymous SNV P315S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 260341 chr19 8165798 8165798 C T rs35534815 FBN3 Synonymous SNV T1716T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.23 260342 chr1 169206895 169206895 C T rs775741655 NME7 Nonsynonymous SNV R262Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 260343 chr1 169349818 169349818 G C rs774669127 BLZF1 Nonsynonymous SNV Q256H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 260344 chr1 169512208 169512208 C T rs776761411 F5 Nonsynonymous SNV R707Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 260345 chr19 8922221 8922221 A T ZNF558 Synonymous SNV T244T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.254 260346 chr9 127262607 127262607 T C rs201548212 NR5A1 Nonsynonymous SNV Y211C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.02 260347 chr5 140530881 140530881 C T rs782005454 PCDHB6 Nonsynonymous SNV S348L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 260348 chr10 13364868 13364868 C T rs144150402 SEPHS1 Nonsynonymous SNV G244S 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 260349 chr1 178861416 178861416 C G RALGPS2 Synonymous SNV G433G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.95 260350 chr1 159854309 159854309 G A rs779208743 CFAP45 Stop gain R272X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 260351 chr9 134050968 134050968 C T NUP214 Synonymous SNV A1083A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 260352 chr1 160163625 160163625 G A rs147525066 CASQ1 Synonymous SNV E151E 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.74 260353 chr9 134350489 134350489 C T rs780468398 PRRC2B Synonymous SNV N991N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.461 260354 chr1 161821620 161821620 T C ATF6 Synonymous SNV S476S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.545 260355 chr19 9084556 9084556 G A rs527465444 MUC16 Nonsynonymous SNV T2420I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 260356 chr9 138669222 138669222 C T rs530678159 KCNT1 Synonymous SNV Y751Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 260357 chr9 139694170 139694170 C A CCDC183 Nonsynonymous SNV D66E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 260358 chr1 100605993 100605993 A C rs756348411 TRMT13 Nonsynonymous SNV M142L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.266 260359 chr5 158135176 158135176 G C EBF1 Nonsynonymous SNV P460A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 260360 chr1 10067712 10067712 A G rs772349104 RBP7 Nonsynonymous SNV H53R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.203 260361 chr1 101479325 101479325 G T rs775736408 DPH5 Nonsynonymous SNV P104T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.02 260362 chr1 10725327 10725327 C A CASZ1 Nonsynonymous SNV L106F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 260363 chr1 233150431 233150431 G A rs753642963 PCNX2 Synonymous SNV A1644A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.002 260364 chr10 860952 860952 G C rs371846156 LARP4B Nonsynonymous SNV S585W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 260365 chr1 175087753 175087753 G T TNN Nonsynonymous SNV V815F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 260366 chr10 6019459 6019459 G A rs765408680 IL15RA Synonymous SNV A34A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.91 260367 chr10 1406029 1406029 C T rs3750673 ADARB2 Nonsynonymous SNV G91S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.283 260368 chr6 407526 407526 C T IRF4 Synonymous SNV Y427Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.029 260369 chr1 247275461 247275461 C T rs779516089 C1orf229 Stop gain W22X 0 0 0 1 0 0 0.003 0 0 0 0 0 32 260370 chr1 247588851 247588851 T C NLRP3 Synonymous SNV D702D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 260371 chr10 19464176 19464176 G A rs971792666 MALRD1 Nonsynonymous SNV V624I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.87 260372 chr1 117568549 117568549 C T rs747472010 LOC101929099 0.002 0 0 0 2 0 0 0 0 0 0 0 4.041 260373 chr1 208390638 208390638 T C rs371680970 PLXNA2 Synonymous SNV S210S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.314 260374 chr10 11985150 11985150 A C UPF2 Nonsynonymous SNV D1064E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.932 260375 chr1 247835889 247835889 T C rs149404055 OR13G1 Nonsynonymous SNV N152S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.216 260376 chr1 211652498 211652498 G A rs148189077 RD3 Synonymous SNV R156R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.36 260377 chr6 12121339 12121339 G C HIVEP1 Synonymous SNV V437V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.598 260378 chr1 12368495 12368495 T C VPS13D Synonymous SNV H2149H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.449 260379 chr1 1354844 1354844 C T rs140747215 ANKRD65 Nonsynonymous SNV E99K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.66 260380 chr1 197102556 197102556 A G ASPM Synonymous SNV A781A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.451 260381 chr1 14105202 14105202 T C PRDM2 Synonymous SNV S103S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 260382 chr1 2493129 2493129 C T rs371222870 TNFRSF14 Nonsynonymous SNV T190M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.974 260383 chr1 145415454 145415454 G A HJV Synonymous SNV R91R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.23 260384 chr10 33502633 33502633 G A rs145954532 NRP1 Nonsynonymous SNV S432F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 260385 chr1 225534045 225534045 A C DNAH14 Nonsynonymous SNV K3687T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 260386 chr6 27805873 27805873 - GCGGGATGAT rs768793613 H2AC15 Frameshift insertion R82Hfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 260387 chr6 27841036 27841036 T A H4C13 Nonsynonymous SNV M85L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 260388 chr1 201952084 201952084 G T rs549263851 RNPEP Nonsynonymous SNV R97L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.95 260389 chr1 151751185 151751185 T C TDRKH Nonsynonymous SNV I287V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 260390 chr1 152059641 152059641 A T rs145646463 TCHHL1 Nonsynonymous SNV S173T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.949 260391 chr1 227922485 227922485 C A rs200460718 JMJD4 Nonsynonymous SNV V145F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 260392 chr1 152083304 152083304 G C TCHH Nonsynonymous SNV Q797E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.81 260393 chr1 203769117 203769117 A G ZBED6 Nonsynonymous SNV T823A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 260394 chr1 228335159 228335159 G A rs144460369 GUK1 Nonsynonymous SNV V123M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.6 260395 chr1 152328137 152328137 G A rs148289047 FLG2 Nonsynonymous SNV H709Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.364 260396 chr6 33690581 33690581 G T rs376075358 IP6K3 Synonymous SNV T383T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.873 260397 chr10 69644769 69644769 C A rs550317521 SIRT1 Nonsynonymous SNV A97E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.54 260398 chr10 50684298 50684298 G A ERCC6 Nonsynonymous SNV S782F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 260399 chr10 133931057 133931057 C T rs546754312 JAKMIP3 Synonymous SNV C204C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.11 260400 chr1 3703509 3703509 G A rs34614387 LRRC47 Synonymous SNV P327P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.941 260401 chr10 70333081 70333081 T G rs201095472 TET1 Nonsynonymous SNV F329C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.2 260402 chr1 156905823 156905823 G A rs144132614 ARHGEF11 Nonsynonymous SNV T1513I 0.002 0 0 0 2 0 0 0 0 0 0 0 4.989 260403 chr10 116853565 116853565 T A ATRNL1 Nonsynonymous SNV V19E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.55 260404 chr1 52082821 52082821 T A OSBPL9 Synonymous SNV T13T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.76 260405 chr10 95185907 95185907 A G rs368513211 MYOF Synonymous SNV I118I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.09 260406 chr10 88451664 88451664 T A rs749041369 LDB3 Nonsynonymous SNV I234N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 260407 chr10 95372567 95372567 C T rs121918537 PDE6C Nonsynonymous SNV R29W 0 0 0 2 0 0 0.005 0 0 0 0 0 Pathogenic 29.3 260408 chr1 229622135 229622135 C A NUP133 Nonsynonymous SNV A495S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 260409 chr1 248845241 248845241 A G rs138711393 OR14I1 Nonsynonymous SNV V122A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.861 260410 chr10 101090625 101090625 C T CNNM1 Nonsynonymous SNV P494L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 260411 chr10 98799831 98799831 C T rs41284250 SLIT1 Synonymous SNV E737E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.77 260412 chr10 101565193 101565193 A G ABCC2 Nonsynonymous SNV S507G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.48 260413 chr1 233122223 233122223 A C PCNX2 Nonsynonymous SNV M1952R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.584 260414 chr1 26189550 26189550 C T rs767773961 PAQR7 Nonsynonymous SNV E261K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260415 chr1 23757529 23757529 G A rs137927599 ASAP3 Nonsynonymous SNV P870L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.71 260416 chr1 237863666 237863666 G C RYR2 Nonsynonymous SNV G3089A 0.001 0 0 0 1 0 0 0 0 0 0 0 27 260417 chr10 115381804 115381804 C T rs149617737 NRAP Nonsynonymous SNV E829K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 260418 chr1 78479281 78479281 C T rs11589750 DNAJB4 Nonsynonymous SNV T138I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.26 260419 chr1 17914032 17914032 G A rs148896370 ARHGEF10L Nonsynonymous SNV D39N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260420 chr10 105900601 105900601 C T rs146971757 CFAP43 Nonsynonymous SNV R1477Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 30 260421 chr1 36501829 36501829 T C rs149864052 AGO3 Synonymous SNV H367H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 1.878 260422 chr10 115610043 115610043 G C rs61757204 DCLRE1A Nonsynonymous SNV A274G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.017 260423 chr6 139164271 139164271 G A rs1023153608 ECT2L Synonymous SNV T166T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 260424 chr10 128973811 128973811 C T rs368886635 INSYN2A Synonymous SNV P283P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.77 260425 chr1 1855333 1855333 C T CFAP74 Nonsynonymous SNV V1424M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 260426 chr10 124356572 124356572 - GA rs369185079 DMBT1 0 0 0.007 1 0 0 0.003 2 0 0 1 0 260427 chr10 124399962 124399962 G A rs778761716 DMBT1 Nonsynonymous SNV S1693N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 260428 chr10 124712479 124712479 C A rs1004774366 C10orf88 Nonsynonymous SNV R78S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.045 260429 chr1 2493158 2493158 C T rs140994365 TNFRSF14 Nonsynonymous SNV H200Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.524 260430 chr1 197898339 197898339 A G LHX9 Nonsynonymous SNV S382G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.95 260431 chr1 29018123 29018123 G C GMEB1 Nonsynonymous SNV D80H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 260432 chr10 134147111 134147111 C G LRRC27 Nonsynonymous SNV P28R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 260433 chr6 160461680 160461680 G A IGF2R Synonymous SNV K468K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 260434 chr10 134219582 134219582 G A rs148757588 PWWP2B Synonymous SNV A526A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.036 260435 chr1 59248633 59248633 C T JUN Nonsynonymous SNV S37N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.547 260436 chr1 35578902 35578925 GGAAGAGAGTCATTTGCAACCCAC - ZMYM1 R417_G424del 0.001 0 0 0 1 0 0 0 0 0 0 0 260437 chr1 38003392 38003392 T A SNIP1 Nonsynonymous SNV D383V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 260438 chr20 33328269 33328269 G C NCOA6 Nonsynonymous SNV P1931A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.581 260439 chr20 43129939 43129939 - TG SERINC3 Frameshift insertion I353Tfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 260440 chr11 4567035 4567035 C T rs142711847 OR52M1 Synonymous SNV I205I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.8 260441 chr11 1472607 1472607 C T rs1021653080 BRSK2 Nonsynonymous SNV T501M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 260442 chr1 228335158 228335158 C T rs763681818 GUK1 Synonymous SNV D122D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.38 260443 chr20 57897443 57897443 - A rs11570344 EDN3 Frameshift insertion T189Nfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 260444 chr1 6314044 6314044 C T rs921583450 GPR153 Nonsynonymous SNV V174I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 260445 chr1 233507810 233507810 G A MAP3K21 Nonsynonymous SNV A527T 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260446 chr1 72076821 72076821 T C rs747152886 NEGR1 Nonsynonymous SNV T226A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 260447 chr20 61912674 61912674 G A rs747737702 ARFGAP1 Nonsynonymous SNV R167Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 260448 chr11 34155895 34155895 G C rs749592592 NAT10 Nonsynonymous SNV Q516H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23.2 260449 chr1 236719226 236719226 G A rs375911763 HEATR1 Nonsynonymous SNV P1843L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 260450 chr1 77806248 77806248 A G rs748999053 AK5 Nonsynonymous SNV M270V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.809 260451 chr1 238053420 238053420 T G ZP4 Synonymous SNV R78R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.099 260452 chr20 30347970 30347970 C A rs752019175 TPX2 Nonsynonymous SNV P73T 0.002 0 0 0 2 0 0 0 0 0 0 0 31 260453 chr21 27130403 27130403 C T GABPA Synonymous SNV L212L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.89 260454 chr1 24433567 24433567 C T rs199883915 MYOM3 Nonsynonymous SNV R133Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 260455 chr7 76891535 76891535 C T rs371350411 CCDC146 Stop gain R362X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 260456 chr20 33001677 33001677 G A rs149625278 ITCH Nonsynonymous SNV C46Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.19 260457 chr20 33865543 33865543 G A MMP24OS Nonsynonymous SNV L64F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 260458 chr11 5922612 5922612 C T OR52E5 Synonymous SNV A206A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.32 260459 chr20 36789823 36789823 G A rs147241314 TGM2 Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.363 260460 chr11 7818410 7818410 C T rs151164274 OR5P2 Nonsynonymous SNV R27Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.012 260461 chr20 47775474 47775474 - CC STAU1 0.001 0 0 0 1 0 0 0 0 0 0 0 260462 chr21 45223524 45223524 C T rs61737064 RRP1 Stop gain R419X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 260463 chr1 27679841 27679841 C A SYTL1 Nonsynonymous SNV P471T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 260464 chr1 28792952 28792952 C T rs202232228 PHACTR4 Nonsynonymous SNV P176S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.69 260465 chr11 20805326 20805326 G A rs200566475 NELL1 Synonymous SNV Q95Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.72 260466 chr11 11987418 11987418 T C rs61751347 DKK3 Synonymous SNV L256L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.734 260467 chr11 32417850 32417850 C T WT1 Nonsynonymous SNV R10K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 260468 chr21 47552201 47552201 C T rs117725825 COL6A2 Nonsynonymous SNV P932L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.213 260469 chr20 57268929 57268929 C T rs758011690 NPEPL1 Nonsynonymous SNV T96M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 260470 chr1 33772805 33772805 C A A3GALT2 Nonsynonymous SNV M195I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.79 260471 chr11 17632099 17632099 G A rs185432248 OTOG Nonsynonymous SNV R1763H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.002 260472 chr20 2384064 2384064 G A rs142832802 TGM6 Synonymous SNV E337E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.12 260473 chr11 59224555 59224555 G A rs777953996 OR4D6 Nonsynonymous SNV G41E 0.003 0 0 0 4 0 0 0 0 0 0 0 24.3 260474 chr20 2819329 2819329 G A PCED1A Synonymous SNV D118D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.197 260475 chr20 30904071 30904071 G A rs750625928 KIF3B Synonymous SNV T485T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 260476 chr20 61391542 61391542 G A NTSR1 Nonsynonymous SNV A394T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.039 260477 chr1 39908544 39908544 A G rs769239484 MACF1 Synonymous SNV T4362T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.122 260478 chr7 105183046 105183046 C T rs79893877 RINT1 Synonymous SNV I77I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.38 260479 chr20 61870824 61870824 G T rs145995768 BIRC7 Nonsynonymous SNV C237F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 260480 chr20 34556706 34556706 T C rs376975938 CNBD2 Nonsynonymous SNV Y8H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 260481 chr7 123302062 123302062 T C rs766708530 LMOD2 Nonsynonymous SNV I141T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 260482 chr7 123593709 123593709 C G SPAM1 Nonsynonymous SNV L29V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 260483 chr11 36597605 36597605 G A rs150721661 RAG1 Synonymous SNV Q917Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.062 260484 chr7 123672777 123672777 C T TMEM229A Nonsynonymous SNV C94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 260485 chr11 64000043 64000043 C A rs754043668 DNAJC4 Nonsynonymous SNV P108T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.333 260486 chr20 62839255 62839255 T C rs373031098 MYT1 Nonsynonymous SNV C236R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 260487 chr11 64067381 64067381 C G rs549956841 KCNK4-TEX40 0.003 0 0 0 4 0 0 0 0 0 0 0 10.17 260488 chr20 40045257 40045257 C T rs138675502 CHD6 Nonsynonymous SNV G2153S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 260489 chr11 65061655 65061655 T C POLA2 Synonymous SNV L426L 0.003 0 0 0 4 0 0 0 0 0 0 0 5.55 260490 chr1 46206636 46206636 C T rs149339831 IPP Nonsynonymous SNV E221K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 260491 chr20 47267573 47267573 G T PREX1 Synonymous SNV A892A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.216 260492 chr20 47267574 47267574 G C PREX1 Nonsynonymous SNV A892G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.71 260493 chr1 48240954 48240954 C T rs141542447 TRABD2B Nonsynonymous SNV D413N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 260494 chr22 32628922 32628922 C T rs774682137 SLC5A4 Nonsynonymous SNV V329M 0 0 0 2 0 0 0.005 0 0 0 0 0 33 260495 chr20 50140514 50140514 G T rs556060763 NFATC2 Nonsynonymous SNV P69Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.61 260496 chr11 66472538 66472538 C T rs766618779 SPTBN2 Nonsynonymous SNV E737K 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 260497 chr7 139726035 139726035 C A PARP12 Nonsynonymous SNV W581L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 260498 chr11 67223117 67223117 A G rs769213358 CABP4 Nonsynonymous SNV S75G 0.003 0 0 0 4 0 0 0 0 0 0 0 0.022 260499 chr21 37617380 37617380 C G rs141620981 DOP1B Synonymous SNV T1034T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.887 260500 chr21 37636093 37636093 A C DOP1B Nonsynonymous SNV K1823T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 260501 chr22 37209688 37209688 A G PVALB 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 260502 chr21 38441879 38441879 G A PIGP Nonsynonymous SNV S67F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 260503 chr1 54645000 54645000 G A rs201303501 CYB5RL Nonsynonymous SNV A110V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 260504 chr22 37705318 37705318 T C rs145053771 CYTH4 Synonymous SNV T197T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.679 260505 chr7 148768501 148768501 A C ZNF786 Nonsynonymous SNV C455G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 260506 chr20 60895885 60895885 G A rs543735593 LAMA5 Synonymous SNV P2186P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.895 260507 chr7 149499027 149499027 G A rs147684856 SSPO 0.003 0 0 0 3 0 0 0 0 0 0 0 1.576 260508 chr11 55339746 55339746 A C rs140231925 OR4C16 Nonsynonymous SNV K48T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.17 260509 chr1 68512711 68512711 G A rs11554042 DIRAS3 Synonymous SNV T90T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.75 260510 chr11 55735265 55735265 C T rs147686831 OR10AG1 Synonymous SNV K225K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.946 260511 chr22 18022247 18022247 C T rs200681984 CECR2 Synonymous SNV L642L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.925 260512 chr22 21192956 21192956 G A rs754997245 PI4KA Nonsynonymous SNV R74W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 260513 chr8 8749815 8749815 A T rs762136884 MFHAS1 Nonsynonymous SNV L252M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 260514 chr11 103191821 103191821 G A rs372153767 DYNC2H1 Nonsynonymous SNV R3930H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260515 chr11 111431108 111431108 T C rs1032297886 LAYN Synonymous SNV I205I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.886 260516 chr11 123813669 123813669 G A rs746626222 OR6T1 Nonsynonymous SNV R293C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 260517 chr2 102793165 102793165 G C rs199664586 IL1R1 Synonymous SNV L408L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.574 260518 chr11 113078044 113078044 C T rs371142479 NCAM1 Synonymous SNV S230S 0.003 0 0 0 3 0 0 0 0 0 0 0 18.29 260519 chr1 914732 914732 G A PERM1 Nonsynonymous SNV P560S 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 260520 chr8 15398044 15398044 C T rs374835090 TUSC3 Synonymous SNV C35C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.74 260521 chr8 16026251 16026251 C G rs573519862 MSR1 Nonsynonymous SNV E134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 260522 chr1 92149366 92149366 T C TGFBR3 Nonsynonymous SNV E828G 0.002 0 0 0 2 0 0 0 0 0 0 0 33 260523 chr11 64808818 64808818 C T SAC3D1 Synonymous SNV A18A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 260524 chr2 109499133 109499133 C A rs77712233 CCDC138 Nonsynonymous SNV P523H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.903 260525 chr8 22005950 22005950 G A rs145000513 LGI3 Nonsynonymous SNV S457L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 260526 chr1 97658647 97658647 C T rs774579695 DPYD Nonsynonymous SNV R867H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.445 260527 chr2 116503746 116503746 A G rs373683426 DPP10 Nonsynonymous SNV S59G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.67 260528 chr22 32111758 32111758 G T PRR14L Nonsynonymous SNV S689R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 260529 chr20 13273069 13273069 C T rs202042016 ISM1 Nonsynonymous SNV A279V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 260530 chr21 45110316 45110316 G A rs142326213 RRP1B Nonsynonymous SNV V672I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.632 260531 chr22 35947707 35947707 C T RASD2 Synonymous SNV D143D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 1.76 260532 chr11 67176971 67176971 C T rs771396666 TBC1D10C Nonsynonymous SNV P261L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 260533 chr21 45825916 45825916 - A TRPM2 Frameshift insertion M930Dfs*78 0.001 0 0 0 1 0 0 0 0 0 0 0 260534 chr21 45825919 45825919 T - TRPM2 M930Rfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 260535 chr11 67232281 67232281 C A rs201625057 TMEM134 Synonymous SNV V151V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.05 260536 chr21 46285308 46285308 A T PTTG1IP 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 260537 chr11 59361499 59361499 C T rs149764564 OSBP Nonsynonymous SNV R514Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 260538 chr8 32621524 32621524 T G rs762219766 NRG1 Nonsynonymous SNV S352R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 260539 chr20 20585930 20585930 T A rs368421397 RALGAPA2 Nonsynonymous SNV I643F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 260540 chr2 135722484 135722484 T G MAP3K19 Nonsynonymous SNV D1195A 0 0 0 1 0 0 0.003 0 0 0 0 0 31 260541 chr20 23476492 23476492 G A rs377479607 CST8 Nonsynonymous SNV G124R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.177 260542 chr22 19960699 19960699 G A ARVCF Nonsynonymous SNV A794V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 260543 chr8 38831944 38831944 C A rs765923073 HTRA4 Synonymous SNV T54T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 260544 chr22 40815257 40815257 G A rs72655383 MRTFA Synonymous SNV A395A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 260545 chr2 149868173 149868173 A G rs369391176 KIF5C Nonsynonymous SNV T953A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.556 260546 chr11 62638311 62638316 TAATAA - rs201215908 SLC3A2 0 0.005 0 2 0 2 0.005 0 0 1 0 1 260547 chr22 20096414 20096414 A G DGCR8 Nonsynonymous SNV E676G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 260548 chr11 77728181 77728181 G A rs199818651 KCTD14 Nonsynonymous SNV R76C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 260549 chr2 159490673 159490673 C T rs138867569 PKP4 Synonymous SNV Y478Y 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.03 260550 chr22 45598932 45598932 C T KIAA0930 Nonsynonymous SNV G264D 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 260551 chr20 33842370 33842370 G T rs200622455 MMP24 Nonsynonymous SNV E210D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.11 260552 chr11 93103336 93103336 A C rs192782337 DEUP1 Nonsynonymous SNV K177T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 260553 chr12 1969341 1969341 - AGT CACNA2D4 Y636_F637insY 0.002 0.003 0 0 2 1 0 0 0 0 0 0 260554 chr11 93431313 93431313 G T rs544680011 CEP295 Nonsynonymous SNV V1079L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.015 260555 chr11 93796782 93796782 C T rs114542505 HEPHL1 Nonsynonymous SNV T175I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 260556 chr2 169717335 169717335 C T rs143019304 NOSTRIN Nonsynonymous SNV R376W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 35 260557 chr8 99135575 99135575 G A rs145484648 POP1 Nonsynonymous SNV A4T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.6 260558 chr8 101937177 101937177 A G rs762820977 YWHAZ Synonymous SNV L129L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 260559 chr2 170505727 170505727 G T rs202209221 CCDC173 Nonsynonymous SNV H428N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.855 260560 chr2 170666915 170666915 C T rs142453953 SSB Synonymous SNV F264F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.32 260561 chr11 65789313 65789313 G A rs75366838 CATSPER1 Synonymous SNV C489C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 2.471 260562 chr2 171509593 171509593 T A rs201654883 MYO3B Nonsynonymous SNV S1303T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.179 260563 chr8 110476775 110476775 C A rs181520404 PKHD1L1 Synonymous SNV R2572R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.471 260564 chr11 105948497 105948497 C G AASDHPPT Synonymous SNV A20A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.46 260565 chr12 24989486 24989486 C A BCAT1 Stop gain G227X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 260566 chr11 69631175 69631175 C T rs376992420 FGF3 Synonymous SNV T79T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.8 260567 chr11 71725640 71725640 A G NUMA1 Nonsynonymous SNV M970T 0 0 0 2 0 0 0.005 0 0 0 0 0 13.2 260568 chr11 113209528 113209528 A - TTC12 N179Tfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 260569 chr20 49204415 49204415 G A rs368176656 RIPOR3 Synonymous SNV I892I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.75 260570 chr20 50407550 50407550 G A rs141604488 SALL4 Nonsynonymous SNV S491L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.99 260571 chr11 75379283 75379283 C T MAP6 Synonymous SNV P44P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.62 260572 chr2 113949984 113949984 T C PSD4 Synonymous SNV S552S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 260573 chr22 40814485 40814485 C T rs752706673 MRTFA Nonsynonymous SNV V653I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 260574 chr11 119228214 119228214 C G USP2 Nonsynonymous SNV E287Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 260575 chr2 128408751 128408751 G A rs754384501 GPR17 Nonsynonymous SNV A148T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 260576 chr11 88911737 88911737 G A rs28940880 TYR Nonsynonymous SNV A206T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 27.2 260577 chr22 45289368 45289368 T C PHF21B Nonsynonymous SNV N256S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 260578 chr22 50488646 50488646 A G rs779011204 TTLL8 Nonsynonymous SNV Y64H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 260579 chr8 145164604 145164604 A C rs530302238 WDR97 Nonsynonymous SNV Y456S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 260580 chr11 107502401 107502401 A G rs771960074 ELMOD1 Synonymous SNV P96P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.8 260581 chr20 62839414 62839414 G A rs141023903 MYT1 Nonsynonymous SNV E289K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.598 260582 chr11 132290156 132290156 C T rs757996170 OPCML Synonymous SNV S223S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.62 260583 chr2 166915130 166915130 T C rs201592683 SCN1A Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.848 260584 chr11 117153464 117153464 A G RNF214 Synonymous SNV P616P 0 0 0 2 0 0 0.005 0 0 0 0 0 9.816 260585 chr2 171243713 171243713 G A rs367946029 MYO3B Nonsynonymous SNV R491H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 260586 chr2 171822590 171822590 G A rs200805633 GORASP2 Nonsynonymous SNV E369K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 260587 chr11 118773985 118773985 A T BCL9L Nonsynonymous SNV S237T 0 0 0 2 0 0 0.005 0 0 0 0 0 13.18 260588 chr11 118774114 118774114 C G BCL9L Nonsynonymous SNV G194R 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 260589 chr21 38311165 38311165 T C rs760691053 HLCS Nonsynonymous SNV M154V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 260590 chr2 179404302 179404302 G T TTN Synonymous SNV G23765G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.605 260591 chr21 38459577 38459577 G A rs773160877 TTC3 Nonsynonymous SNV G7E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.119 260592 chr11 122775907 122775907 C T rs376019049 JHY Nonsynonymous SNV R298C 0 0 0 1 0 0 0.003 0 0 0 0 0 3.575 260593 chr9 26998189 26998189 A T rs114207672 LRRC19 Nonsynonymous SNV D44E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.339 260594 chr2 179473060 179473060 G A TTN Nonsynonymous SNV S8452F 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 260595 chr11 123814335 123814335 G A rs146653844 OR6T1 Synonymous SNV L71L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.578 260596 chr9 33266050 33266050 T C CHMP5 Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.603 260597 chr9 33351709 33351709 C G rs75231196 NFX1 Nonsynonymous SNV P860R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.27 260598 chr11 123887187 123887187 A G rs148404016 OR10G4 Synonymous SNV R302R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 260599 chr9 34506814 34506814 C G rs766607013 DNAI1 Nonsynonymous SNV S422C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 260600 chr11 123909134 123909134 G T rs140026196 OR10G7 Stop gain S192X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 260601 chr11 124487291 124487291 A C rs150744597 PANX3 Nonsynonymous SNV K149T 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 260602 chr2 231973880 231973880 G C rs770427725 HTR2B Nonsynonymous SNV T266R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 260603 chr2 137928321 137928321 G T THSD7B Synonymous SNV T512T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.013 260604 chr9 73218381 73218381 C T rs35390807 TRPM3 Synonymous SNV A869A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 260605 chr2 153192189 153192189 G T FMNL2 Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 260606 chr2 197135934 197135934 G A rs553442127 HECW2 Synonymous SNV T750T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.54 260607 chr12 19436351 19436351 C G PLEKHA5 Nonsynonymous SNV S370C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 260608 chr2 160053220 160053220 G A rs553191342 TANC1 Synonymous SNV P826P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.809 260609 chr12 2690927 2690927 C T rs112170830 CACNA1C Synonymous SNV F689F 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.95 260610 chr12 2921871 2921871 G T rs776271123 ITFG2-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 6.88 260611 chr21 47838141 47838141 C T PCNT Synonymous SNV I2197I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 260612 chr12 4766967 4766967 T G rs779495089 NDUFA9 Nonsynonymous SNV N124K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 260613 chr22 18121591 18121591 C T rs1016023015 BCL2L13 Synonymous SNV P44P 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 7.372 260614 chr12 107391466 107391466 C T rs747739478 CRY1 Nonsynonymous SNV R431H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 260615 chr2 207530611 207530611 T - DYTN Stop gain I375* 0.002 0 0.003 0 2 0 0 1 0 0 0 0 260616 chr12 6675779 6675779 C T rs145516676 NOP2 Nonsynonymous SNV A52T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 260617 chr12 31540619 31540619 T C rs201506251 DENND5B Nonsynonymous SNV N1248S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.08 260618 chr12 7867792 7867794 CTC - rs776230873 DPPA3 S34del 0 0 0 2 0 0 0.005 0 0 0 0 0 260619 chr22 24034585 24034585 G A rs141395325 RGL4 Synonymous SNV P81P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.612 260620 chr12 9262615 9262615 C T rs369574498 A2M Nonsynonymous SNV R24H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 260621 chr12 104698364 104698364 - A rs764533697 EID3 Frameshift insertion N220Kfs*18 0.003 0.003 0 0 4 1 0 0 0 0 0 0 260622 chr12 106634026 106634026 A T rs183401520 CKAP4 Nonsynonymous SNV S195R 0.005 0.003 0 0 6 1 0 0 0 0 0 0 14.43 260623 chr12 49392133 49392133 G A DDN Nonsynonymous SNV R176C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 260624 chr12 106634030 106634030 T C rs200639707 CKAP4 Nonsynonymous SNV E194G 0.005 0.003 0 0 6 1 0 0 0 0 0 0 27.3 260625 chr9 109686676 109686676 C T rs371044181 ZNF462 Synonymous SNV V161V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.088 260626 chr12 122012474 122012474 G A KDM2B Synonymous SNV V94V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 260627 chr9 112166866 112166866 G T rs7859962 PTPN3 Nonsynonymous SNV F273L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 260628 chr2 186654318 186654318 A T rs76914767 FSIP2 Nonsynonymous SNV I819F 0.003 0 0 0 3 0 0 0 0 0 0 0 22.7 260629 chr22 30762047 30762047 G A rs773064591 CCDC157 Nonsynonymous SNV D20N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 260630 chr2 186670379 186670379 C T rs145367587 FSIP2 Nonsynonymous SNV T5449I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.46 260631 chr2 3193118 3193118 T C EIPR1 Nonsynonymous SNV H240R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.64 260632 chr22 30951216 30951216 G A rs752403006 GAL3ST1 Synonymous SNV A332A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.079 260633 chr2 223773610 223773610 G A rs778355721 ACSL3 Synonymous SNV P40P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 260634 chr2 228388517 228388517 T C rs61752216 AGFG1 Nonsynonymous SNV V139A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 260635 chr2 191523910 191523910 C T rs759984574 NAB1 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 260636 chr12 53096924 53096924 C T KRT77 Nonsynonymous SNV V99I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.963 260637 chr22 37318309 37318309 C A rs200588212 CSF2RB Nonsynonymous SNV S20R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 260638 chr12 42860161 42860161 T C PRICKLE1 Nonsynonymous SNV T204A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 260639 chr12 48181864 48181864 G A rs566816185 HDAC7 Synonymous SNV D736D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.54 260640 chr22 39777880 39777880 C T rs74681509 SYNGR1 Synonymous SNV F221F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 260641 chr12 56994802 56994802 G A rs754163633 BAZ2A Nonsynonymous SNV R1459W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 260642 chr12 57431331 57431331 C A rs138284300 MYO1A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 260643 chr12 57431332 57431332 A G rs149628462 MYO1A Synonymous SNV T685T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 260644 chr12 57574246 57574246 C T rs751631965 LRP1 Synonymous SNV T1790T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 260645 chr8 145153809 145153809 C G SHARPIN Nonsynonymous SNV W379S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 260646 chr12 62954505 62954505 T C rs144223000 MON2 Nonsynonymous SNV I1215T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.872 260647 chr2 241661890 241661890 G A KIF1A Nonsynonymous SNV R1449W 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 260648 chr12 66539664 66539665 AC - rs755673342 TMBIM4 T142Sfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 260649 chr8 146203462 146203462 C T rs146148711 ZNF252P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.176 260650 chr22 45075741 45075741 C T rs74960825 PRR5 Nonsynonymous SNV P21L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.35 260651 chr22 46318805 46318805 T C rs754935814 WNT7B Synonymous SNV K327K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.916 260652 chr22 46932084 46932084 G A rs372426734 CELSR1 Synonymous SNV Y328Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 260653 chr2 84930680 84930680 C T rs575189795 DNAH6 Synonymous SNV A2741A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.61 260654 chr2 220194459 220194459 T C rs199608794 RESP18 Nonsynonymous SNV Q122R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 260655 chr9 135522415 135522415 T G DDX31 Nonsynonymous SNV H438P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 260656 chr22 50512732 50512732 G A rs138153307 MLC1 Synonymous SNV A209A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.84 260657 chr8 23059385 23059385 G A TNFRSF10A Stop gain Q189X 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 260658 chr13 32776585 32776585 C G rs755716890 FRY Synonymous SNV P1313P 0.003 0 0 0 3 0 0 0 0 0 0 0 6.39 260659 chr8 23217622 23217622 G A rs201211677 LOXL2 Nonsynonymous SNV S171L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 260660 chr2 27802092 27802092 C T C2orf16 Nonsynonymous SNV P885S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 260661 chr8 30717568 30717568 G T rs762425783 TEX15 Synonymous SNV L182L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 260662 chr2 33759466 33759466 C T rs775753875 RASGRP3 Nonsynonymous SNV S387L 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 260663 chr12 106633633 106633633 G A rs773194117 CKAP4 Synonymous SNV R326R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 260664 chr8 37728018 37728018 T C rs143230572 RAB11FIP1 Nonsynonymous SNV M551V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 260665 chr8 38314882 38314882 G A rs145434725 FGFR1 Nonsynonymous SNV P28L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 260666 chr2 103335095 103335121 GCCCACAGTCAGCTGGAGGTCCGTGAT - MFSD9 I334_G342del 0.002 0 0 0 2 0 0 0 0 0 0 0 260667 chr3 108158669 108158669 T C MYH15 Nonsynonymous SNV Q1017R 0 0 0 2 0 0 0.005 0 0 0 0 0 10.49 260668 chr8 43152571 43152571 T C POTEA Nonsynonymous SNV L186S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.457 260669 chr2 234431859 234431859 T C USP40 Nonsynonymous SNV N719D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 260670 chr2 44174906 44174906 G A rs200017171 LRPPRC Synonymous SNV H643H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.351 260671 chr10 3143185 3143185 C G rs751088137 PFKP Nonsynonymous SNV A78G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.323 260672 chr8 6302738 6302738 G A rs146586991 MCPH1 Nonsynonymous SNV V451M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 260673 chr2 234959491 234959499 GGAATGAAC - SPP2 G21_N23del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 260674 chr2 48734464 48734464 A G PPP1R21 Nonsynonymous SNV I633M 0.002 0 0 0 2 0 0 0 0 0 0 0 24 260675 chr12 75698574 75698574 G A rs1049337913 CAPS2 Nonsynonymous SNV P162S 0 0 0 2 0 0 0.005 0 0 0 0 0 15.75 260676 chr2 237149927 237149927 T C rs140256911 ASB18 Synonymous SNV L108L 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 6.667 260677 chr2 48898806 48898806 G C GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV C405S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 260678 chr8 71572757 71572757 C A LACTB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 260679 chr13 110436183 110436183 T C rs763521201 IRS2 Nonsynonymous SNV S740G 0.003 0 0 0 3 0 0 0 0 0 0 0 9.961 260680 chr8 86376560 86376560 A C CA3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.804 260681 chr12 93219948 93219948 T G rs141238775 EEA1 Nonsynonymous SNV E506D 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 260682 chr8 95186187 95186187 A T CDH17 Stop gain Y207X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 260683 chr2 135215640 135215640 C T rs145243913 TMEM163 Nonsynonymous SNV V258I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.12 260684 chr10 17199457 17199457 G A rs201181750 TRDMT1 Synonymous SNV S209S 0.003 0 0 0 4 0 0 0 0 0 0 0 10.46 260685 chr2 69049502 69049502 G A rs756773730 ARHGAP25 Nonsynonymous SNV G404R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 260686 chr12 124343703 124343703 A G rs755272841 DNAH10 Nonsynonymous SNV K2095E 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 260687 chr14 23371266 23371268 GCA - rs764229204 RBM23 A359del 0.001 0 0 0 1 0 0 0 0 0 0 0 260688 chr12 129822304 129822304 C T rs201444385 TMEM132D Nonsynonymous SNV D392N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.11 260689 chr3 12546693 12546693 A G rs140979604 TSEN2 Nonsynonymous SNV Y291C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.3 260690 chr12 108134918 108134918 T A rs149313146 PRDM4 Nonsynonymous SNV S577C 0 0 0 1 0 0 0.003 0 0 0 0 0 16.23 260691 chr12 132628345 132628350 GCTGGT - DDX51 T137_S138del 0 0 0 1 0 0 0.003 0 0 0 0 0 260692 chr10 28436487 28436487 G A rs762298417 MPP7 Synonymous SNV A80A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 260693 chr12 110376297 110376297 C A rs202120742 GIT2 Nonsynonymous SNV V551L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 260694 chr10 32197127 32197127 A G rs181642145 ARHGAP12 Synonymous SNV L219L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.454 260695 chr10 33123757 33123757 C T rs200088472 CCDC7 Nonsynonymous SNV H1095Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 260696 chr2 29160835 29160835 C G rs777153710 WDR43 Nonsynonymous SNV T532R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 260697 chr10 33543018 33543018 G T NRP1 Nonsynonymous SNV R307S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 260698 chr2 86364656 86364656 G A rs144366369 PTCD3 Nonsynonymous SNV D682N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 260699 chr10 46965756 46965756 G C rs200211646 LOC102724488, SYT15 Nonsynonymous SNV R145G 0.003 0 0 0 3 0 0 0 0 0 0 0 5.529 260700 chr2 97507912 97507912 A C rs201277049 ANKRD23 Nonsynonymous SNV F62C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 260701 chr2 170806389 170806389 A T rs771247542 UBR3 Nonsynonymous SNV Q1120L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.96 260702 chr9 123880790 123880790 A T rs144178223 CNTRL Nonsynonymous SNV D541V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16 260703 chr9 123917145 123917145 G C rs144738756 CNTRL Nonsynonymous SNV R888P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28.8 260704 chr3 107429321 107429321 A G rs61731591 BBX Nonsynonymous SNV N5S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.926 260705 chr2 175338085 175338085 A G GPR155 Synonymous SNV A156A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.056 260706 chr2 178096312 178096312 T C rs755229916 NFE2L2 Nonsynonymous SNV N310S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.028 260707 chr12 124957664 124957664 G A rs370453736 NCOR2 Nonsynonymous SNV T142M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.22 260708 chr9 126770212 126770212 C T rs148440642 LOC100505588 0 0 0.01 0 0 0 0 3 0 0 1 0 0.893 260709 chr2 179546110 179546110 T A TTN Synonymous SNV P9836P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.2 260710 chr2 54080574 54080574 T C rs374418654 GPR75 Synonymous SNV K440K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.353 260711 chr13 49580379 49580379 T C rs369023726 FNDC3A Nonsynonymous SNV I18T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 260712 chr3 113729789 113729789 C T rs143944825 CCDC191 Nonsynonymous SNV A393T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.251 260713 chr3 113847688 113847688 C T rs547108013 DRD3 Nonsynonymous SNV V360M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 260714 chr12 132510291 132510291 C T rs371912460 EP400 Synonymous SNV G1652G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 260715 chr9 131295922 131295922 A G GLE1 Synonymous SNV A481A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.02 260716 chr2 183960196 183960196 C T DUSP19 Nonsynonymous SNV S104F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 260717 chr2 70392698 70392698 A G rs141556112 C2orf42 Nonsynonymous SNV I405T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.57 260718 chr9 132632089 132632089 G A rs755737130 USP20 Nonsynonymous SNV G511S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 260719 chr13 96601610 96601610 T C UGGT2 Nonsynonymous SNV I478M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.6 260720 chr3 178546095 178546095 C T rs760218747 KCNMB2 Synonymous SNV N119N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.59 260721 chr3 179320563 179320563 T C rs749341517 MRPL47 Nonsynonymous SNV K41E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.322 260722 chr14 59010684 59010684 A G KIAA0586 Nonsynonymous SNV R1527G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.28 260723 chr3 182946129 182946129 A C rs61753470 MCF2L2 Nonsynonymous SNV C691G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 260724 chr2 74058084 74058084 G A rs775741034 STAMBP Nonsynonymous SNV R34H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 260725 chr9 135975769 135975769 C A RALGDS Nonsynonymous SNV V764L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 260726 chr14 75143386 75143386 G A rs202106130 AREL1 Nonsynonymous SNV P184L 0.004 0 0 0 5 0 0 0 0 0 0 0 17.16 260727 chr10 81070689 81070689 C G ZMIZ1 Nonsynonymous SNV H948Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 260728 chr3 126137965 126137965 C T rs202020872 CFAP100 Nonsynonymous SNV R233W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 260729 chr9 137023058 137023058 C T rs193186920 WDR5 Synonymous SNV I316I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 260730 chr3 128664660 128664660 G T rs191574528 KIAA1257 Synonymous SNV G213G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.12 260731 chr13 39266049 39266049 G A FREM2 Nonsynonymous SNV R1523H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 260732 chr13 111991657 111991657 A T TEX29 Nonsynonymous SNV D37V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.147 260733 chr3 186937975 186937975 G A rs753779999 MASP1 Synonymous SNV L662L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.46 260734 chr13 41814417 41814417 C T rs774595714 MTRF1 Nonsynonymous SNV V284I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.69 260735 chr14 81554337 81554337 T A rs144084915 TSHR Synonymous SNV P119P 0.006 0.003 0 1 7 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.33 260736 chr9 139407859 139407859 G A rs756642176 NOTCH1 Nonsynonymous SNV R780W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.7 260737 chr13 49841971 49841971 G A CDADC1 Nonsynonymous SNV G259D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 260738 chr3 133698375 133698375 G A rs200244112 SLCO2A1 Nonsynonymous SNV R62C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 260739 chr9 140127368 140127368 T C SLC34A3 Nonsynonymous SNV V146A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 260740 chr3 14188863 14188863 G A rs751767428 XPC Nonsynonymous SNV A651V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 260741 chr3 142051814 142051814 C T rs760535063 XRN1 Nonsynonymous SNV A1353T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 260742 chr9 14125736 14125736 G T rs544162821 NFIB Nonsynonymous SNV P67T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 260743 chr3 111831831 111831831 C T rs200220555 C3orf52 Nonsynonymous SNV T163M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.903 260744 chr3 25671845 25671845 G A rs1037702066 TOP2B Synonymous SNV L502L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.01 260745 chr13 96601607 96601607 C T rs758044970 UGGT2 Synonymous SNV R479R 0 0 0 2 0 0 0.005 0 0 0 0 0 10.57 260746 chr10 102051171 102051171 C G rs768235132 PKD2L1 Nonsynonymous SNV E585Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 260747 chr3 148614472 148614472 A C rs145833901 CPA3 Nonsynonymous SNV Y411S 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 21.6 260748 chr3 148868446 148868446 G A rs752942876 HPS3 Synonymous SNV P243P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Likely benign 16.64 260749 chr10 103921663 103921663 A G rs752384937 NOLC1 Nonsynonymous SNV D651G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 260750 chr10 103990524 103990540 CCCAGGCCCTGCAGGGC - PITX3 A214Rfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 260751 chr13 103387778 103387778 C T rs752343252 CCDC168 Nonsynonymous SNV G5090E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.07 260752 chr13 110830258 110830258 C T rs41275090 COL4A1 Nonsynonymous SNV V883I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23 260753 chr9 34311156 34311156 A T rs777683378 KIF24 Synonymous SNV I63I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.44 260754 chr3 16268983 16268983 G A GALNT15 Synonymous SNV Q162Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.268 260755 chr3 122003352 122003352 T A rs200777304 CASR Nonsynonymous SNV C851S 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.8 260756 chr14 39769176 39769176 G C rs776771675 MIA2 Nonsynonymous SNV E181Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 260757 chr13 114434261 114434261 T A rs777094000 GRK1 Nonsynonymous SNV V380D 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 34 260758 chr13 115037915 115037915 G C rs61755296 CDC16 Synonymous SNV T568T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.797 260759 chr9 4722527 4722527 G A rs747550190 AK3 Stop gain Q14X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 260760 chr3 173323359 173323359 G A rs553692559 NLGN1 Nonsynonymous SNV G177S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 260761 chr3 180334740 180334740 T C rs886038749 CCDC39 Synonymous SNV T760T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.728 260762 chr3 182615148 182615148 A G rs144601759 ATP11B Nonsynonymous SNV I1036V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.63 260763 chr9 75780055 75780055 G A rs149033255 ANXA1 Synonymous SNV R212R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.13 260764 chr3 45801400 45801400 G A rs143985135 SLC6A20 Synonymous SNV S489S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.91 260765 chr2 233396103 233396103 C G rs41265127 CHRND Nonsynonymous SNV Q94E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 260766 chr3 184039672 184039672 C T EIF4G1 Nonsynonymous SNV P238S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.695 260767 chr3 1320159 1320159 G A CNTN6 Nonsynonymous SNV V69M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 260768 chr15 40648357 40648357 - C PHGR1 Frameshift insertion H37Pfs*50 0.002 0 0 0 2 0 0 0 0 0 0 0 260769 chr3 136219085 136219085 A G rs114980494 STAG1 Synonymous SNV G294G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.173 260770 chrX 114425841 114425841 G A rs782817764 RBMXL3 Nonsynonymous SNV G613R 0 0 0.007 0 0 0 0 2 0 0 1 0 22.1 260771 chr3 51979570 51979570 G A rs147748277 PARP3 Synonymous SNV T314T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 10.74 260772 chr3 142257420 142257420 G C rs764664423 ATR Nonsynonymous SNV S1146C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 260773 chr14 73421188 73421188 C T rs775241247 DCAF4 Synonymous SNV L274L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.95 260774 chrX 18234814 18234814 T C BEND2 Nonsynonymous SNV N22S 0 0 0.01 0 0 0 0 3 0 0 1 0 10.44 260775 chrX 29935584 29935584 A T IL1RAPL1 Nonsynonymous SNV D261V 0 0 0.007 0 0 0 0 2 0 0 1 0 15.62 260776 chr3 160037608 160037608 C T rs145776235 IFT80 Synonymous SNV V162V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.69 260777 chrX 43702951 43702951 G T rs778570953 MAOB Synonymous SNV R36R 0 0 0.007 0 0 0 0 2 0 0 1 0 14.48 260778 chr3 38081073 38081073 G A DLEC1 Synonymous SNV K119K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.19 260779 chrX 47519504 47519504 - CCTTCCTT rs764211703 UXT-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 260780 chr3 169656262 169656262 A G SAMD7 Nonsynonymous SNV K437E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.25 260781 chr4 107037403 107037403 T C rs149002761 TBCK Nonsynonymous SNV S727G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.88 260782 chr3 45515749 45515749 G A rs116272561 LARS2 Synonymous SNV A255A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.01 260783 chr15 65689312 65689312 G C IGDCC4 Nonsynonymous SNV S286C 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.6 260784 chr14 102718331 102718331 C T rs201525388 MOK Synonymous SNV G65G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.46 260785 chr15 68617508 68617508 G A rs767784555 ITGA11 Synonymous SNV P761P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.28 260786 chr15 70960237 70960237 T C UACA Nonsynonymous SNV E916G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 260787 chr15 72105748 72105748 C A rs377257254 NR2E3 Nonsynonymous SNV A256E 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 20.6 260788 chr14 77272846 77272846 G A rs753354838 ANGEL1 Synonymous SNV C431C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.43 260789 chr11 2594170 2594170 G A rs199472736 KCNQ1 Nonsynonymous SNV G292D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 260790 chr2 61275625 61275625 G A rs147344836 PEX13 Nonsynonymous SNV R311H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.1 260791 chr15 78578420 78578420 C T rs148690647 WDR61 Nonsynonymous SNV V145I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 260792 chr3 50114460 50114460 G A RBM6 Nonsynonymous SNV G567D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 260793 chr2 68274408 68274408 A G rs770466615 C1D Nonsynonymous SNV V12A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.283 260794 chr15 28326993 28326993 G A rs554862186 OCA2 Nonsynonymous SNV R10W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 260795 chr2 71046974 71046974 G A rs782592563 CLEC4F Synonymous SNV L37L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.518 260796 chr2 71062725 71062725 C T rs79932602 CD207 Synonymous SNV K29K 0.003 0 0 0 4 0 0 0 0 0 0 0 13.01 260797 chr3 36893323 36893323 C T rs375238795 TRANK1 Nonsynonymous SNV A1548T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 260798 chr14 96757199 96757199 G A ATG2B Nonsynonymous SNV P1885S 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 260799 chr3 44489754 44489754 G C rs151010388 ZNF445 Nonsynonymous SNV S458C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 260800 chr2 74699745 74699745 G C rs747196565 MRPL53 Nonsynonymous SNV Q15E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.147 260801 chr14 102466397 102466397 C A DYNC1H1 Nonsynonymous SNV D1292E 0 0 0 2 0 0 0.005 0 0 0 0 0 9.682 260802 chr4 1646023 1646023 C T FAM53A Nonsynonymous SNV G310D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.525 260803 chr14 103188686 103188686 G C RCOR1 Nonsynonymous SNV G451A 0 0 0 2 0 0 0.005 0 0 0 0 0 22.4 260804 chr14 104202419 104202419 C T rs141544257 PPP1R13B Nonsynonymous SNV R1051H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 260805 chr3 46541858 46541858 C T rs375275359 RTP3 Synonymous SNV S56S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 260806 chr3 9106146 9106146 C T rs201104166 SRGAP3 Synonymous SNV L202L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.53 260807 chr3 93803065 93803065 G A rs577399999 NSUN3 Synonymous SNV Q79Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 260808 chr3 97806033 97806033 G A rs562786394 OR5AC2 Nonsynonymous SNV G6E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 260809 chr14 105613683 105613683 G A rs148440032 JAG2 Nonsynonymous SNV A782V 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 28.3 260810 chr4 187159453 187159453 G A rs4253257 KLKB1 Nonsynonymous SNV A178T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 7.428 260811 chr3 10242158 10242158 A G IRAK2 Nonsynonymous SNV E128G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 260812 chr3 52172259 52172259 C T rs781292462 POC1A Nonsynonymous SNV A247T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 260813 chr3 52265960 52265960 G C rs370584351 TWF2 Synonymous SNV P94P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.724 260814 chr15 52672036 52672036 C T rs193027836 MYO5A Synonymous SNV A694A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 18 260815 chr4 25005658 25005658 G T rs144130580 LGI2 Synonymous SNV S351S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.039 260816 chr15 54307658 54307658 A G UNC13C Nonsynonymous SNV Y853C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.9 260817 chr4 2927751 2927751 C T rs149239903 ADD1 Synonymous SNV D591D 0 0.005 0.003 1 0 2 0.003 1 0 0 0 0 17.43 260818 chr16 734744 734744 T A rs368939669 WDR24 Nonsynonymous SNV E788V 0.003 0 0 0 3 0 0 0 0 0 0 0 26.7 260819 chr15 40616341 40616341 A G INAFM2 Nonsynonymous SNV T29A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.5 260820 chr4 111434571 111434571 C T rs151006682 ENPEP Nonsynonymous SNV R437C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 260821 chr15 40913648 40913648 C G rs748392192 KNL1 Nonsynonymous SNV H396D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.29 260822 chr11 9853841 9853841 G A rs201514622 SBF2 Synonymous SNV L1194L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.01 260823 chr11 13375964 13375964 C T ARNTL Nonsynonymous SNV R37C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 260824 chr15 65849087 65849087 A G rs201830295 HACD3 Nonsynonymous SNV K72R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.948 260825 chr3 58109228 58109228 G A rs17058845 FLNB Nonsynonymous SNV E1179K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 22.3 260826 chr15 66795209 66795209 G A rs751003362 SNORD16 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.96 260827 chr3 58139172 58139172 G A rs60599272 FLNB Synonymous SNV V2122V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 5.716 260828 chr3 58899400 58899400 G T rs73840008 C3orf67 Nonsynonymous SNV S195Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.47 260829 chr16 2024228 2024228 G A rs375415353 TBL3 Nonsynonymous SNV V42I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.025 260830 chr4 128627683 128627683 C T rs747876872 INTU Synonymous SNV C610C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.17 260831 chr15 69689906 69689906 A G LOC145694 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.31 260832 chr15 43067358 43067358 G A rs776776204 TTBK2 Nonsynonymous SNV A658V 0 0 0 2 0 0 0.005 0 0 0 0 0 29.4 260833 chr16 2336866 2336866 G A rs769945799 ABCA3 Nonsynonymous SNV T1036M 0.003 0 0 0 3 0 0 0 0 0 0 0 9.834 260834 chr4 57179459 57179459 C T rs776352029 CRACD Nonsynonymous SNV R151C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 260835 chr4 15005736 15005736 C T CPEB2 Nonsynonymous SNV T480M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 260836 chr15 49170387 49170387 C G EID1 Nonsynonymous SNV A5G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.438 260837 chr3 126220700 126220700 C A rs759647555 UROC1 Nonsynonymous SNV A332S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 260838 chr3 127393413 127393413 G A rs751267762 ABTB1 Nonsynonymous SNV E49K 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 260839 chr16 10788410 10788410 G C rs150387539 TEKT5 Synonymous SNV A107A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.739 260840 chr16 10992557 10992557 C G rs375019139 CIITA Nonsynonymous SNV S109C 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.6 260841 chr16 11773261 11773261 G C rs8191350 TXNDC11 Synonymous SNV T437T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.561 260842 chr3 129370513 129370513 G A rs143311432 TMCC1 Synonymous SNV N418N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.29 260843 chr4 160274867 160274867 T G rs142343445 RAPGEF2 Nonsynonymous SNV F1279L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.464 260844 chr3 12942891 12942891 C T rs902887326 IQSEC1 Synonymous SNV K979K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.48 260845 chr16 11850194 11850194 G A ZC3H7A Nonsynonymous SNV L821F 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 260846 chr3 130103711 130103711 G A COL6A5 Synonymous SNV E455E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.524 260847 chr16 15141376 15141376 G A rs143783591 NTAN1 Synonymous SNV D94D 0.003 0 0 0 4 0 0 0 1 0 0 0 11.46 260848 chr16 28511175 28511175 - CTC rs781707360 IL27 E176_R177insE 0.001 0 0 1 1 0 0.003 0 0 0 0 0 260849 chr3 130686038 130686038 A G ATP2C1 Nonsynonymous SNV D386G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 260850 chr15 86312654 86312654 G A rs753839404 KLHL25 Nonsynonymous SNV H130Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.053 260851 chr3 131208878 131208878 G A rs148638602 MRPL3 Nonsynonymous SNV P172L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 260852 chr4 170429439 170429439 T C rs61735896 NEK1 Nonsynonymous SNV N501S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 260853 chr16 29937292 29937292 G A KCTD13 Synonymous SNV P21P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.256 260854 chr4 77003597 77003597 T G rs776845790 ART3 Synonymous SNV V230V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.121 260855 chr4 110920991 110920991 C G rs548762791 EGF Synonymous SNV A931A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.35 260856 chr15 90171738 90171738 G A rs150248985 KIF7 Nonsynonymous SNV P1315L 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Likely benign 17.97 260857 chr16 55690717 55690717 G A rs375150129 SLC6A2 Synonymous SNV K37K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 14.83 260858 chr4 187084023 187084023 T G rs79537217 FAM149A Nonsynonymous SNV Y252D 0.003 0 0 0 3 0 0 0 0 0 0 0 15.36 260859 chr3 142232408 142232408 T C rs34124242 ATR Nonsynonymous SNV I1462V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.32 260860 chr3 142279129 142279129 T C rs771539192 ATR Nonsynonymous SNV H506R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.85 260861 chr15 75248693 75248693 C T rs778992605 RPP25 Nonsynonymous SNV V78I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 260862 chr4 84384688 84384688 C T rs114513239 ABRAXAS1 Nonsynonymous SNV R143Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.78 260863 chr4 2831346 2831346 C T rs369270340 SH3BP2 Nonsynonymous SNV P238L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 260864 chr16 31336059 31336059 C T rs370244056 ITGAM Nonsynonymous SNV R749W 0.003 0 0 0 4 0 0 0 0 0 0 0 26.7 260865 chr4 89653232 89653232 A G FAM13A Nonsynonymous SNV F568L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 260866 chr4 89668942 89668942 G T FAM13A Nonsynonymous SNV T387K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 260867 chr15 80855492 80855492 T A rs150964641 ARNT2 Nonsynonymous SNV W410R 0 0 0 2 0 0 0.005 0 0 0 0 0 29.1 260868 chr4 39303904 39303904 G T rs745425268 RFC1 Synonymous SNV I817I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.6 260869 chr16 1032292 1032292 T C rs766035055 SOX8 Nonsynonymous SNV Y124H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 260870 chr5 107006310 107006310 A C rs771131134 EFNA5 Nonsynonymous SNV L2W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 260871 chr5 107717378 107717378 G A FBXL17 Synonymous SNV L5L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.052 260872 chr16 1129781 1129781 G A rs757340833 SSTR5 Nonsynonymous SNV G305S 0 0 0 3 0 0 0.008 0 0 0 0 0 23.3 260873 chr16 67319264 67319264 A G rs142391556 PLEKHG4 Nonsynonymous SNV E675G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 25.4 260874 chr16 68104039 68104039 A C rs139163251 DUS2 Nonsynonymous SNV K151T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.71 260875 chr4 4304605 4304605 G A rs4689254 ZBTB49 Nonsynonymous SNV A348T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.889 260876 chr15 89824431 89824431 C G rs139072231 FANCI Nonsynonymous SNV P471R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 29.5 260877 chr16 1836829 1836829 G A rs146966970 NUBP2 Synonymous SNV V69V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.39 260878 chr4 4864725 4864725 C G MSX1 Nonsynonymous SNV P256R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 260879 chr15 90903456 90903456 G C rs777743646 ZNF774 Nonsynonymous SNV E131D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.498 260880 chr11 56510943 56510943 C A OR9G4 Nonsynonymous SNV Q115H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 260881 chr4 186541228 186541228 G A SORBS2 Nonsynonymous SNV P765S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 260882 chr4 619463 619463 C T rs147759031 PDE6B Synonymous SNV P16P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.021 260883 chr4 2172847 2172847 G A rs181898184 POLN Nonsynonymous SNV T479M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.096 260884 chr4 7062653 7062653 A G rs764944795 GRPEL1 Nonsynonymous SNV V197A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 260885 chr15 102358547 102358547 C G OR4F15 Nonsynonymous SNV A53G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 260886 chr3 194151737 194151737 G A rs372972524 ATP13A3 Synonymous SNV G853G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.17 260887 chr16 88787082 88787082 G C PIEZO1 Nonsynonymous SNV R1915G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 260888 chr11 61732925 61732925 T C rs751425119 FTH1 Synonymous SNV Q59Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.06 260889 chr16 86601736 86601736 C A FOXC2 Nonsynonymous SNV N265K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 260890 chr3 30875733 30875733 C T rs145400754 GADL1 Nonsynonymous SNV R315H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 260891 chr17 1628294 1628294 C G WDR81 Nonsynonymous SNV T14S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 260892 chr5 141244790 141244790 G T rs138410646 PCDH1 Nonsynonymous SNV A385D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 260893 chr16 2903095 2903095 T C PRSS22 X318W 0 0 0 2 0 0 0.005 0 0 0 0 0 11.67 260894 chr4 8609011 8609011 G C CPZ Nonsynonymous SNV K351N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 260895 chr11 64893039 64893039 C T rs141441486 MRPL49 Synonymous SNV G103G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.666 260896 chr4 69098101 69098117 TTGGTAAGCATTTCAGA - rs758663826 TMPRSS11B S163Qfs*61 0 0.003 0 0 0 1 0 0 0 0 0 0 260897 chr11 65392032 65392032 T C rs368858008 PCNX3 Nonsynonymous SNV M936T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 260898 chr5 147774381 147774381 T G rs765497349 FBXO38 Nonsynonymous SNV N14K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.83 260899 chr4 91549288 91549288 A C rs202243228 CCSER1 Nonsynonymous SNV N613H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.4 260900 chr4 951892 951892 C T rs138803304 TMEM175 Nonsynonymous SNV R293C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 260901 chr17 2699837 2699837 C T rs768476208 RAP1GAP2 Nonsynonymous SNV R6C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 260902 chr16 10867236 10867236 T C rs369235815 TVP23A Nonsynonymous SNV I129M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 260903 chr4 72215759 72215759 C T rs149802590 SLC4A4 Nonsynonymous SNV R130W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.9 260904 chr11 70335437 70335437 T C SHANK2 Synonymous SNV L268L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 260905 chr16 15820747 15820747 C T rs112990531 MYH11 Synonymous SNV E1272E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.9 260906 chr16 57937839 57937839 C T rs146762538 CNGB1 Nonsynonymous SNV R888H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 260907 chr5 115782730 115782730 G A rs185504747 SEMA6A Nonsynonymous SNV P891L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.4 260908 chr16 19126205 19126205 G A rs752786525 ITPRIPL2 Nonsynonymous SNV G141D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.51 260909 chr16 24801696 24801696 C T rs573474554 TNRC6A Nonsynonymous SNV A578V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.369 260910 chr3 49755558 49755558 C G rs149103139 AMIGO3 Nonsynonymous SNV K447N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27 260911 chr3 49841870 49841870 C A INKA1 Nonsynonymous SNV T76K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 260912 chr3 50231252 50231252 C T rs759127799 GNAT1 Synonymous SNV R172R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.35 260913 chr16 27709791 27709791 - AAGGCC rs769490670 KIAA0556 A363_E364insKA 0 0 0 2 0 0 0.005 0 0 0 0 0 260914 chr3 50645082 50645082 G C rs376743036 CISH Nonsynonymous SNV R245G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 260915 chr3 52392660 52392660 C A rs541677751 DNAH1 Synonymous SNV S1391S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.61 260916 chr5 13882851 13882851 T A rs370697884 DNAH5 Nonsynonymous SNV E1083V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 260917 chr17 7317773 7317773 G A NLGN2 Nonsynonymous SNV V207I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 260918 chr5 140044604 140044604 T C rs142586731 WDR55 Nonsynonymous SNV V36A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.15 260919 chr5 140166322 140166322 T C rs782525355 PCDHA1 Synonymous SNV N149N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.016 260920 chr5 140744110 140744110 G A rs374825504 PCDHGA5 Synonymous SNV R71R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.932 260921 chr5 195304 195304 G A rs376426192 LRRC14B Nonsynonymous SNV V461M 0 0 0 1 0 0 0.003 0 0 0 0 0 5.225 260922 chr11 107299542 107299542 T C rs200509385 CWF19L2 Synonymous SNV T472T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 260923 chr3 69026778 69026778 A C rs140481649 EOGT Nonsynonymous SNV D441E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 260924 chr3 71021303 71021303 T C rs76145927 FOXP1 Nonsynonymous SNV H520R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 15.63 260925 chr16 87723352 87723352 C T rs373405129 JPH3 Synonymous SNV R462R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 260926 chr16 67865924 67865924 C T rs183190026 CENPT Nonsynonymous SNV S126N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 260927 chr16 68405505 68405505 C T rs144835673 SMPD3 Nonsynonymous SNV D194N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 260928 chr17 18863944 18863944 G A rs948130711 SLC5A10 Synonymous SNV L144L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.99 260929 chr16 69905743 69905743 C G rs149500742 WWP2 Synonymous SNV T88T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.8 260930 chr17 27031334 27031334 C T PROCA1 Nonsynonymous SNV R44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 260931 chr17 27061980 27061980 C T rs776495618 NEK8 Synonymous SNV F148F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.2 260932 chr16 70553623 70553623 C T COG4 Synonymous SNV E57E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.49 260933 chr16 71483121 71483121 C G rs140388285 ZNF23 Nonsynonymous SNV R211S 0 0 0 2 0 0 0.005 0 0 0 0 0 19.37 260934 chr17 29631775 29631775 C G rs113483471 EVI2B Nonsynonymous SNV D285H 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 26.8 260935 chr16 89294319 89294319 C G rs199960904 ZNF778 Synonymous SNV A513A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.99 260936 chr5 157170838 157170838 G A LSM11 Nonsynonymous SNV S27N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.08 260937 chr5 161116018 161116018 C T rs373870250 GABRA6 Nonsynonymous SNV P97S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 260938 chr4 114278237 114278237 C A rs780668435 ANK2 Nonsynonymous SNV D2821E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 16.42 260939 chr4 114376917 114376917 G A rs148075816 CAMK2D Synonymous SNV N498N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.36 260940 chr4 121739665 121739665 C T rs747041753 PRDM5 Nonsynonymous SNV E165K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 260941 chr5 172744892 172744892 C T STC2 Synonymous SNV E289E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.77 260942 chr5 141033715 141033726 CCCCCGTGCCTG - rs557993156 ARAP3 Q1476_G1479del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 260943 chr5 176638557 176638557 A G NSD1 Nonsynonymous SNV K1053E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.06 260944 chr5 176895180 176895180 T G rs147152750 DBN1 Nonsynonymous SNV K62Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 260945 chr17 3924437 3924437 T C rs367877189 ZZEF1 Nonsynonymous SNV R2464G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 260946 chr4 13602329 13602329 T A rs148838992 BOD1L1 Nonsynonymous SNV K2065N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.28 260947 chr5 179264615 179264615 G A rs146092066 MRNIP Stop gain Q215X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 260948 chr16 88752796 88752796 C T rs145634974 SNAI3 Nonsynonymous SNV V7M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 260949 chr12 1703226 1703226 T C rs201556394 FBXL14 Nonsynonymous SNV T3A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 260950 chr16 89350658 89350658 C T rs149626938 ANKRD11 Synonymous SNV E764E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 8.593 260951 chr16 89869669 89869669 G A FANCA Stop gain Q232X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 37 260952 chr17 42168720 42168720 G A rs749498659 HDAC5 Synonymous SNV D436D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.409 260953 chr5 34925542 34925542 G A rs774372093 BRIX1 Nonsynonymous SNV R335Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 260954 chr4 15938009 15938009 C T rs761875405 FGFBP1 Nonsynonymous SNV V83I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 260955 chr17 7289967 7289967 G A TNK1 Nonsynonymous SNV E409K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.1 260956 chr5 35779248 35779248 A G rs142928511 SPEF2 Nonsynonymous SNV Y1416C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 260957 chr12 6924071 6924071 C T CD4 Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.713 260958 chr17 42235291 42235291 G C rs142140033 HROB Nonsynonymous SNV E621Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 18.77 260959 chr12 7301639 7301639 C T CLSTN3 Nonsynonymous SNV A640V 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23.5 260960 chr6 109548387 109548387 G C rs138441416 CCDC162P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 260961 chr5 170737290 170737290 T C TLX3 Synonymous SNV H186H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 260962 chr17 4849219 4849219 G A rs145109002 PFN1 Synonymous SNV S133S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.708 260963 chr17 4872040 4872040 C T rs377625435 CAMTA2 Synonymous SNV P1229P 0 0 0 2 0 0 0.005 0 0 0 0 0 12.75 260964 chr17 4904688 4904688 G A rs372339577 KIF1C Nonsynonymous SNV V119M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 260965 chr5 61874620 61874632 AAAAAAAAAAAAA - IPO11-LRRC70 0.001 0 0 0 1 0 0 0 0 0 0 0 260966 chr17 56270862 56270862 G A EPX Nonsynonymous SNV E101K 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.266 260967 chr6 132892036 132892036 C T rs374779651 TAAR6 Synonymous SNV T192T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.52 260968 chr17 56357232 56357232 C T MPO Nonsynonymous SNV R131Q 0.004 0.003 0 0 5 1 0 0 0 0 0 0 7.53 260969 chr6 133118239 133118239 G T rs752174502 SLC18B1 Nonsynonymous SNV A22E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.419 260970 chr5 180622392 180622392 A G rs200165092 TRIM7 Nonsynonymous SNV L255P 0.001 0 0 0 1 0 0 0 0 0 0 0 26 260971 chr17 6941749 6941749 A T rs116931082 SLC16A13 Nonsynonymous SNV T208S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 260972 chr4 2332617 2332617 G T ZFYVE28 Nonsynonymous SNV P287Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.195 260973 chr17 7107112 7107112 G A DLG4 Synonymous SNV S18S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.16 260974 chr17 7131010 7131010 T C rs117262744 DVL2 Nonsynonymous SNV M399V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.765 260975 chr4 2498830 2498830 A G rs1025686608 RNF4 Nonsynonymous SNV I36V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.95 260976 chr5 33964031 33964031 A G SLC45A2 Nonsynonymous SNV M218T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 260977 chr17 62527057 62527057 C T rs782567709 CEP95 Nonsynonymous SNV A323V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 25.6 260978 chr12 29671407 29671407 C T rs367583331 TMTC1 Synonymous SNV K674K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 260979 chr6 151672686 151672686 T A rs141944450 AKAP12 Nonsynonymous SNV S949T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 260980 chr17 7751363 7751363 G A rs774929876 KDM6B Nonsynonymous SNV R586Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.81 260981 chr17 67181653 67181653 G A rs761160403 ABCA10 Nonsynonymous SNV T821M 0.003 0 0 0 3 0 0 0 0 0 0 0 3.811 260982 chr17 67249794 67249794 T C rs368600407 ABCA5 Synonymous SNV L1445L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.867 260983 chr17 10429016 10429016 G A rs765074421 MYH2 Synonymous SNV F1455F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.61 260984 chr5 89931092 89931092 T C rs9293547 ADGRV1 Synonymous SNV D667D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.701 260985 chr5 89971929 89971929 A G rs10067298 ADGRV1 Synonymous SNV G1782G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.57 260986 chr17 11687707 11687707 G A rs199793182 DNAH9 Nonsynonymous SNV G2638R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.36 260987 chr5 89989802 89989802 A G rs111033430 ADGRV1 Nonsynonymous SNV Y2410C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.3 260988 chr5 89990149 89990149 A G rs75191159 ADGRV1 Nonsynonymous SNV I2526V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.438 260989 chr17 12799783 12799783 C T rs192254681 ARHGAP44 Synonymous SNV T51T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.34 260990 chr5 90021035 90021035 T C rs10067636 ADGRV1 Nonsynonymous SNV F3347L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.91 260991 chr17 73497987 73497987 G C CASKIN2 Nonsynonymous SNV S974R 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.711 260992 chr17 33329712 33329712 C T rs368519526 LIG3 Synonymous SNV S900S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.61 260993 chr6 160510274 160510274 T C rs193107580 IGF2R Synonymous SNV D2152D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.561 260994 chr17 73646729 73646729 C T rs201473413 RECQL5 Synonymous SNV A433A 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 1.777 260995 chr17 18027809 18027809 C T rs201618718 MYO15A Nonsynonymous SNV R1208C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26 260996 chr17 35745608 35745608 C G C17orf78 Nonsynonymous SNV T171R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 260997 chr6 100062496 100062496 C T rs1056375834 PRDM13 Nonsynonymous SNV A662V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 260998 chr4 5785367 5785367 C T rs371682994 EVC Nonsynonymous SNV P551L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 1.647 260999 chr17 38122116 38122116 C T rs754816059 GSDMA Nonsynonymous SNV T59M 0 0 0 1 0 0 0.003 0 0 0 0 0 27 261000 chr17 38233789 38233789 C T rs777838472 THRA Synonymous SNV D50D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.83 261001 chr12 53008996 53008996 C T rs117164775 KRT73-AS1 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 3.243 261002 chr12 53045869 53045869 G A rs141817495 KRT2 Nonsynonymous SNV R20W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 261003 chr17 27938631 27938631 C T rs769178879 ANKRD13B Synonymous SNV I313I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.49 261004 chr17 27942863 27942863 G A CORO6 Synonymous SNV L201L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 261005 chr6 117248278 117248278 A T RFX6 Nonsynonymous SNV Q658H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 261006 chr17 78320957 78320957 C T rs138004000 RNF213 Nonsynonymous SNV T2941M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.408 261007 chr6 118228960 118228960 C G SLC35F1 Nonsynonymous SNV T24S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 261008 chr17 39620626 39620626 C T KRT32 Nonsynonymous SNV D260N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 33 261009 chr6 2785356 2785356 C G rs551510501 WRNIP1 Nonsynonymous SNV P613R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 261010 chr6 2785401 2785401 A T rs750622426 WRNIP1 Nonsynonymous SNV D628V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 261011 chr5 89769839 89769839 C A MBLAC2 Nonsynonymous SNV G91C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 261012 chr17 39919433 39919433 G A rs376345105 JUP Synonymous SNV S433S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.17 261013 chr17 37809880 37809882 CTC - rs774114973 STARD3 S34del 0 0 0 1 0 0 0.003 0 0 0 0 0 261014 chr6 136934374 136934374 G C MAP3K5 Nonsynonymous SNV R767G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 261015 chr6 137519634 137519634 T G rs17175350 IFNGR1 Nonsynonymous SNV H335P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.806 261016 chr17 38643650 38643650 C T rs757914322 TNS4 Nonsynonymous SNV S309N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 261017 chr17 42400916 42400916 G A rs748640137 SLC25A39 Synonymous SNV D5D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.715 261018 chr4 876601 876601 C T rs763213126 GAK Nonsynonymous SNV E392K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 261019 chr18 5406775 5406780 CCTCTT - rs751919094 EPB41L3 E602Nfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 261020 chr18 6243385 6243385 C T rs142238955 L3MBTL4 Nonsynonymous SNV S123N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 261021 chr17 44111618 44111618 A G KANSL1 Nonsynonymous SNV S859P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 261022 chr17 46136215 46136215 T G NFE2L1 Nonsynonymous SNV S481A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 261023 chr6 42936700 42936700 C A rs766413103 PEX6 Nonsynonymous SNV S464I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 261024 chr17 39580527 39580527 A T KRT37 Stop gain C83X 0 0 0 2 0 0 0.005 0 0 0 0 0 24.1 261025 chr6 45399656 45399656 C T rs758487556 RUNX2 Synonymous SNV N146N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.63 261026 chr5 101593699 101593699 T A rs201321627 SLCO4C1 Nonsynonymous SNV K407N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 261027 chr6 155577857 155577857 G A rs201476343 TIAM2 Nonsynonymous SNV D495N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 261028 chr17 53345162 53345162 A T HLF Nonsynonymous SNV S56C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.44 261029 chr12 91347923 91347923 C G rs147208569 CCER1 Nonsynonymous SNV E199D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 261030 chr17 40839866 40839866 C G rs773802956 CNTNAP1 Synonymous SNV T391T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.01 261031 chr18 29049209 29049209 T C rs267605164 DSG3 Synonymous SNV S598S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 261032 chr18 45567006 45567020 TCCTCCTCCTCTTCG - rs752158268 ZBTB7C D153_E157del 0.003 0 0 0 4 0 0 0 0 0 0 0 261033 chr6 135363226 135363226 C T rs573654532 HBS1L Nonsynonymous SNV V50I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 261034 chr17 46606955 46606955 G A rs758725882 HOXB1 Nonsynonymous SNV S287L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 261035 chr6 69348733 69348733 A C ADGRB3 Nonsynonymous SNV T56P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 261036 chr6 146865023 146865023 G T RAB32 Nonsynonymous SNV A6S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 261037 chr6 170033143 170033143 C T rs201209063 WDR27 Nonsynonymous SNV R517Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 261038 chr6 74078580 74078580 T - rs758732063 OOEP K126Rfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 261039 chr5 131994031 131994031 C A rs34255686 IL13 Synonymous SNV V51V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.16 261040 chr5 132096614 132096614 C T rs768836270 SEPTIN8 Nonsynonymous SNV R389Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 261041 chr6 86160141 86160141 T C NT5E Nonsynonymous SNV V95A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.21 261042 chr17 60059688 60059688 G C rs367927155 MED13 Nonsynonymous SNV R1226G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 261043 chr5 140166308 140166308 T A PCDHA1 Nonsynonymous SNV S145T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 261044 chr12 121592688 121592688 G A rs138943772 P2RX7 Nonsynonymous SNV V76M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 261045 chr5 140474589 140474589 - A rs782748449 PCDHB2 Frameshift insertion M75Nfs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 261046 chr17 62492605 62492605 T C rs781888267 POLG2 Nonsynonymous SNV E161G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.69 261047 chr12 49425753 49425753 C G KMT2D Nonsynonymous SNV E4245D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 261048 chr12 122213574 122213574 C G rs200447471 TMEM120B Synonymous SNV L322L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 261049 chr7 100173865 100173865 C T rs370008127 LRCH4 Nonsynonymous SNV R545H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 261050 chr5 140763121 140763121 G A rs773842723 PCDHGA7 Nonsynonymous SNV D219N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.972 261051 chr5 140794498 140794498 G A rs201279747 PCDHGA10 Nonsynonymous SNV A586T 0.002 0 0 0 2 0 0 0 0 0 0 0 25 261052 chr6 33768872 33768872 C T rs200908170 MLN Synonymous SNV T23T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.117 261053 chr6 34507170 34507170 G A rs200344679 SPDEF Nonsynonymous SNV S213L 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 261054 chr5 140908381 140908381 T C DIAPH1 Nonsynonymous SNV K960R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.34 261055 chr12 52452494 52452494 G A rs750717562 NR4A1 Synonymous SNV P521P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.003 261056 chr6 35960307 35960307 C T rs546689610 SLC26A8 Nonsynonymous SNV G258S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 261057 chr12 129559002 129559002 A G rs765910461 TMEM132D Synonymous SNV L906L 0.003 0 0 0 4 0 0 0 0 0 0 0 0.005 261058 chr6 36688962 36688962 - AGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG RAB44 A358_P359insASPEEAASPEEA 0.001 0 0 0 1 0 0 0 0 0 0 0 261059 chr6 169639585 169639585 G A rs548631309 LOC101929523 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 261060 chr6 39158872 39158872 C T rs748673096 KCNK5 Nonsynonymous SNV E432K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 261061 chr5 149677635 149677635 G A rs139203947 ARSI Synonymous SNV Y284Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.254 261062 chr12 53819280 53819280 G A rs760273526 AMHR2 Nonsynonymous SNV V182M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.713 261063 chr12 54426958 54426958 G C rs750491544 HOXC5 Nonsynonymous SNV A18P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 261064 chr12 54903492 54903492 G A NCKAP1L Synonymous SNV E132E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 261065 chr17 79858000 79858000 G A rs375171192 ANAPC11 Nonsynonymous SNV D134N 0 0 0 1 0 0 0.003 0 0 0 0 0 4.957 261066 chr17 80044313 80044313 C T rs72863336 FASN Synonymous SNV S1183S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Likely benign 11.67 261067 chr6 42957385 42957385 A G PPP2R5D Nonsynonymous SNV S22G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 261068 chr17 73837042 73837042 T C rs144722609 UNC13D Nonsynonymous SNV M204V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 261069 chr12 56718233 56718233 T C rs376051054 PAN2 Synonymous SNV S591S 0 0 0.007 0 0 0 0 2 0 0 0 0 4.747 261070 chr17 74395652 74395652 A C rs375168133 UBE2O Synonymous SNV T502T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.83 261071 chr5 156522337 156522341 AAGAT - rs765341404 HAVCR2 I218Rfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 261072 chr7 100866764 100866764 A G rs142789038 ZNHIT1 Nonsynonymous SNV K67R 0 0.003 0 3 0 1 0.008 0 0 0 0 0 15.22 261073 chr13 33704046 33704046 G A rs142304754 STARD13 Synonymous SNV A248A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.214 261074 chr7 102109367 102109367 G C LRWD1 Nonsynonymous SNV W210C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 261075 chr5 167182121 167182121 T A rs199925103 TENM2 Nonsynonymous SNV H21Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.702 261076 chr13 37584732 37584732 A C rs151137086 SUPT20H Nonsynonymous SNV F720C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.27 261077 chr12 6666584 6666584 C G rs199961977 NOP2 Nonsynonymous SNV A668P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.601 261078 chr12 66717820 66717820 T A rs758587182 HELB Nonsynonymous SNV N785K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 261079 chr5 176316549 176316549 C G rs138713473 HK3 Synonymous SNV A249A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.549 261080 chr19 6416860 6416860 T C KHSRP Nonsynonymous SNV M406V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.59 261081 chr19 5700863 5700863 C T rs146759309 LONP1 Synonymous SNV A285A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.08 261082 chr5 176882245 176882245 C T PRR7 Synonymous SNV L59L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.52 261083 chr19 5707092 5707092 C G rs138264110 LONP1 Synonymous SNV L179L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.24 261084 chr7 120737782 120737782 T A CPED1 Nonsynonymous SNV C216S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 261085 chr6 57012345 57012345 A G ZNF451 Nonsynonymous SNV K488E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 261086 chr19 6375607 6375607 G A rs761239429 PSPN Nonsynonymous SNV R57C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 261087 chr7 121682702 121682702 A G rs142694766 PTPRZ1 Nonsynonymous SNV S1081G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 261088 chr19 6828110 6828110 C T rs200705988 VAV1 Synonymous SNV N285N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.73 261089 chr19 6686274 6686274 C T rs11569534 C3 Nonsynonymous SNV G1224D 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.31 261090 chr5 178373387 178373387 A G rs780852042 ZNF454 Nonsynonymous SNV I21V 0.003 0 0 0 3 0 0 0 0 0 0 0 1.214 261091 chr5 178506941 178506941 A G rs758375055 ZNF354C Nonsynonymous SNV K503R 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 261092 chr13 80910921 80910921 G A rs760529490 SPRY2 Nonsynonymous SNV P307L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 261093 chr17 80141712 80141712 C T rs372632712 CCDC57 Synonymous SNV T383T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.377 261094 chr19 8152996 8152996 G A rs148013574 FBN3 Synonymous SNV F2148F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 9.235 261095 chr17 80789387 80789387 A G rs202180755 ZNF750 Nonsynonymous SNV L315P 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 261096 chr5 180582314 180582314 T C rs12108779 OR2V2 Synonymous SNV Y124Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 261097 chr5 180582321 180582321 A G rs57951228 OR2V2 Nonsynonymous SNV I127V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.504 261098 chr6 83075316 83075316 G T TPBG Nonsynonymous SNV R213L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 261099 chr6 43415145 43415145 A G rs148109801 ABCC10 Nonsynonymous SNV Q1207R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 261100 chr12 96409429 96409429 C T rs138184255 LTA4H Nonsynonymous SNV G331R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 261101 chr6 89974189 89974189 G A rs149245573 GABRR2 Nonsynonymous SNV A343V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 261102 chr7 100202792 100202792 C T PCOLCE Nonsynonymous SNV P181L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 261103 chr5 41160275 41160275 G A C6 Synonymous SNV N551N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.523 261104 chr13 113803772 113803772 G A rs200826349 F10 Nonsynonymous SNV G426S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.851 261105 chr13 23914601 23914601 A G rs146431793 SACS Synonymous SNV N991N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.059 261106 chr19 9085688 9085688 T C rs764996610 MUC16 Nonsynonymous SNV S2043G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.058 261107 chr7 151818686 151818686 C T rs746924476 GALNT11 Nonsynonymous SNV P503L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.77 261108 chr5 66445361 66445361 C T rs746331722 MAST4 Nonsynonymous SNV S886L 0.003 0 0 0 4 0 0 0 0 0 0 0 25.5 261109 chr13 36124658 36124658 C T rs544608243 NBEA Synonymous SNV S3S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 261110 chr18 47796446 47796446 T C MBD1 Nonsynonymous SNV T530A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.046 261111 chr19 814626 814626 G A PLPPR3 Synonymous SNV T241T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.483 261112 chr13 39265800 39265800 C A rs79048205 FREM2 Nonsynonymous SNV T1440K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 261113 chr13 39447067 39447067 T A rs201065518 FREM2 Synonymous SNV L2724L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.84 261114 chr5 72424301 72424301 C T rs767508663 TMEM171 Nonsynonymous SNV T242I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.84 261115 chr6 90385908 90385908 C T rs376025262 MDN1 Synonymous SNV S4186S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 261116 chr18 55335786 55335786 - AAAA rs56032749 LOC100505549 0 0 0 2 0 0 0.005 0 0 0 0 1 261117 chr6 90405346 90405346 T C MDN1 Nonsynonymous SNV K3250R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 261118 chr5 74324602 74324602 T A GCNT4 Nonsynonymous SNV I421F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 261119 chr19 12267473 12267473 - T ZNF625-ZNF20 0.003 0 0 0 3 0 0 0 0 0 0 0 261120 chr13 61987946 61987946 C A rs760780104 PCDH20 Nonsynonymous SNV A96S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.427 261121 chr7 1097620 1097620 C T rs146968874 GPR146 Synonymous SNV L157L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.63 261122 chr18 72344516 72344516 A C ZNF407 Nonsynonymous SNV H514P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.73 261123 chr13 98666436 98666436 G A IPO5 Nonsynonymous SNV V765I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 261124 chr7 12397064 12397064 C T rs575787774 VWDE Nonsynonymous SNV V1003M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.52 261125 chr5 93856062 93856062 C T rs76005206 KIAA0825 Nonsynonymous SNV M287I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.1 261126 chr19 16436267 16436267 C T rs768382004 KLF2 Nonsynonymous SNV P106S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 261127 chr14 104624263 104624263 G T rs201972367 KIF26A Nonsynonymous SNV A303S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 261128 chr14 104646046 104646046 G A rs568257053 KIF26A Synonymous SNV A1856A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 261129 chr7 43982765 43982765 A G POLR2J4 0 0 0 1 0 0 0.003 0 0 0 0 0 2.495 261130 chr14 105239882 105239882 G A rs368667384 AKT1 Synonymous SNV S246S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 261131 chr19 17122519 17122519 C T rs200726092 CPAMD8 Nonsynonymous SNV G106S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.152 261132 chr19 1045026 1045026 C G rs10405305 ABCA7 Nonsynonymous SNV A414G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.5 261133 chr7 139299041 139299041 C T rs369184245 HIPK2 Nonsynonymous SNV G634S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 261134 chr7 48019107 48019107 G A rs138248432 HUS1 Nonsynonymous SNV R4W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 261135 chr6 111540171 111540171 A G rs748396674 SLC16A10 Nonsynonymous SNV Q414R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.15 261136 chr19 1077947 1077947 C T rs75236288 ARHGAP45 Nonsynonymous SNV A61V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.1 261137 chr7 4824586 4824586 A G rs554060393 AP5Z1 Nonsynonymous SNV T124A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.059 261138 chr7 4824589 4824589 T A rs765690642 AP5Z1 Nonsynonymous SNV S125T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.74 261139 chr14 64680990 64680990 C T rs141741640 SYNE2 Nonsynonymous SNV R13C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.3 261140 chr19 1535150 1535150 T G rs772946570 PLK5 Synonymous SNV P304P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.112 261141 chr19 1826924 1826924 C T rs780515124 REXO1 Nonsynonymous SNV E622K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 261142 chr7 106820378 106820378 G A rs562659626 HBP1 Nonsynonymous SNV V24I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 261143 chr19 2046678 2046678 A G MKNK2 Nonsynonymous SNV F22L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 261144 chr19 2834372 2834372 A G rs376789614 ZNF554 Nonsynonymous SNV Y380C 0 0 0 2 0 0 0.005 0 0 0 0 0 23 261145 chr7 143095862 143095862 C G rs145891509 EPHA1 Nonsynonymous SNV V390L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.9 261146 chr19 22271543 22271543 C T rs772592446 ZNF257 Nonsynonymous SNV L255F 0.003 0 0 0 3 0 0 0 0 0 0 0 18.01 261147 chr7 115889110 115889110 G T rs373742301 TES Nonsynonymous SNV E50D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 261148 chr7 121650611 121650611 C G PTPRZ1 Nonsynonymous SNV S504C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 261149 chr19 3740589 3740589 C T rs370502572 TJP3 Synonymous SNV A557A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 261150 chr7 149524885 149524885 G A SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 12.54 261151 chr6 132938472 132938472 A C rs140828718 TAAR2 Synonymous SNV S246S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 261152 chr19 34843633 34843633 G A rs187942647 KIAA0355 Nonsynonymous SNV A996T 0.003 0 0 0 3 0 0 0 0 0 0 0 5.024 261153 chr6 133072306 133072306 C T rs34856068 VNN2 Nonsynonymous SNV R393Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 20.8 261154 chr6 135239915 135239915 G T rs767279629 ALDH8A1 Nonsynonymous SNV Q318K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.36 261155 chr14 24618058 24618058 G A rs150248677 RNF31 Nonsynonymous SNV G51S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 261156 chr14 24618709 24618709 C T RNF31 Synonymous SNV H91H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 261157 chr7 151841942 151841942 G A rs775674561 KMT2C Synonymous SNV S4733S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.02 261158 chr7 133886320 133886320 C T LRGUK Nonsynonymous SNV T612I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 261159 chr14 38218327 38218327 - T TTC6 Frameshift insertion Y866Lfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 261160 chr7 141884928 141884928 A G rs201188036 MGAM2 Nonsynonymous SNV T1326A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 261161 chr6 152804222 152804222 T C SYNE1 Nonsynonymous SNV K457E 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 261162 chr6 153293443 153293443 T C rs368040414 FBXO5 Synonymous SNV K306K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.894 261163 chr7 23165400 23165400 C T rs939206213 KLHL7 Stop gain Q155X 0.001 0 0 0 1 0 0 0 0 0 0 0 9.082 261164 chr19 39087998 39087998 T C MAP4K1 Nonsynonymous SNV Q602R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 261165 chr19 9525112 9525112 T C rs754449319 ZNF266 Synonymous SNV K163K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.244 261166 chr14 61446147 61446147 T A rs115400838 TRMT5 Nonsynonymous SNV S185C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.47 261167 chr19 40366142 40366142 C T rs201656539 FCGBP Nonsynonymous SNV A4698T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 261168 chr19 40367832 40367832 C T rs760970050 FCGBP Synonymous SNV T4376T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.99 261169 chr19 40433521 40433521 T C rs751045863 FCGBP Nonsynonymous SNV T250A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.31 261170 chr7 150747235 150747235 G A rs138872415 ASIC3 Nonsynonymous SNV A193T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.518 261171 chr14 102493961 102493961 T G DYNC1H1 Synonymous SNV P3018P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.82 261172 chr7 151078803 151078803 C T rs545519741 WDR86 Nonsynonymous SNV R159H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 261173 chr14 103566835 103566835 C T rs2297066 EXOC3L4 Synonymous SNV D93D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.161 261174 chr19 10812893 10812893 G A rs764114075 QTRT1 Synonymous SNV L138L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 261175 chr19 12875847 12875847 G A rs377444360 HOOK2 Synonymous SNV Y561Y 0 0 0 2 0 0 0.005 0 0 0 0 0 10.24 261176 chr6 168464423 168464423 C T FRMD1 Nonsynonymous SNV R153K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 261177 chr14 74138257 74138259 TAT - DNAL1 L75del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 261178 chr6 170173460 170173460 A G ERMARD Nonsynonymous SNV S301G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 261179 chr8 124219846 124219846 G A rs988840424 FAM83A Nonsynonymous SNV R408Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 261180 chr8 124382138 124382140 TCT - rs775121977 ATAD2 E284del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 261181 chr15 31197015 31197015 T G rs148404807 FAN1 Nonsynonymous SNV M50R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Likely benign 28.4 261182 chr19 44833306 44833306 T C ZNF112 Nonsynonymous SNV N274S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 261183 chr8 124790318 124790318 T A rs760075063 FAM91A1 Nonsynonymous SNV C141S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.63 261184 chr7 23561445 23561445 C G TRA2A Nonsynonymous SNV Q17H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 261185 chr15 31776213 31776213 - GGC OTUD7A A689_T690insA 0.002 0 0 0 2 0 0 0 0 0 0 0 261186 chr14 78390841 78390841 C T rs143243521 ADCK1 Synonymous SNV F232F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.56 261187 chr6 25969631 25969631 C T rs76757832 TRIM38 Stop gain R164X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 261188 chr14 89063102 89063102 C T rs45518831 ZC3H14 Nonsynonymous SNV S137F 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 Benign/Likely benign 25.6 261189 chr19 10200360 10200360 C T rs758492353 SHFL Nonsynonymous SNV R75W 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 261190 chr6 25969635 25969635 T C rs78235403 TRIM38 Nonsynonymous SNV I165T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 261191 chr6 26020981 26020981 C A rs75579728 H3C1 Synonymous SNV S88S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.09 261192 chr14 92627520 92627520 T C CPSF2 Nonsynonymous SNV L678S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 261193 chr19 10502254 10502254 C T rs28382794 CDC37 Synonymous SNV T370T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 12.99 261194 chr19 47570114 47570114 G A rs8100925 ZC3H4 Synonymous SNV G1137G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.794 261195 chr8 135613822 135613822 C T rs768580861 ZFAT Nonsynonymous SNV A652T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 261196 chr19 47944431 47944431 T C rs762584870 SLC8A2 Nonsynonymous SNV N627S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.804 261197 chr19 48182976 48182976 G A rs1005150571 BICRA Synonymous SNV P183P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.467 261198 chr19 12126044 12126044 G A rs774278944 ZNF433 Synonymous SNV A546A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 261199 chr8 143832569 143832569 G A rs368610242 LYPD2 Synonymous SNV Y26Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.665 261200 chr19 13135465 13135465 G A rs1024948492 NFIX Synonymous SNV A6A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.51 261201 chr15 100890280 100890280 A C rs896479748 SPATA41 0 0 0.003 0 0 0 0 1 0 0 0 0 1.151 261202 chr19 13910566 13910566 C A rs773779738 ZSWIM4 Synonymous SNV P62P 0 0 0 2 0 0 0.005 0 0 0 0 0 18.38 261203 chr19 17487896 17487896 C T rs148432183 PLVAP Nonsynonymous SNV E68K 0 0 0 1 0 0 0.003 0 0 0 0 0 21 261204 chr6 33653594 33653594 G A rs531085782 ITPR3 Nonsynonymous SNV R1886Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 261205 chr19 48737758 48737758 G A CARD8 Nonsynonymous SNV T17I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.624 261206 chr6 35107812 35107812 G A TCP11 Nonsynonymous SNV T12I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.75 261207 chr7 7400141 7400141 G C COL28A1 Nonsynonymous SNV Q1029E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 261208 chr19 50368618 50368618 C A rs766589333 PNKP Synonymous SNV G88G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 20.6 261209 chr15 33765646 33765646 C A rs199968653 RYR3 Synonymous SNV I26I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 261210 chr15 49090159 49090159 A G rs747666132 CEP152 Synonymous SNV D59D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.842 261211 chr15 34444996 34444996 A G rs375825009 KATNBL1 Nonsynonymous SNV S145P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 261212 chr15 50264849 50264849 G A rs770476015 ATP8B4 Synonymous SNV S391S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 261213 chr19 19762592 19762592 C T rs764329084 ATP13A1 Synonymous SNV T747T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 261214 chr7 87483614 87483614 C T rs762070622 SLC25A40 Nonsynonymous SNV V57I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 261215 chr7 5112026 5112026 - TGC rs779104406 RBAK-RBAKDN A97_P98insA 0.001 0 0 0 1 0 0 0 0 0 0 0 261216 chr19 50161497 50161497 A C rs748593728 SCAF1 Synonymous SNV P1260P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 261217 chr8 145139409 145139409 C G rs200864475 GPAA1 Nonsynonymous SNV H303D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.89 261218 chr19 21607545 21607545 A G rs185810129 ZNF493 Nonsynonymous SNV Y567C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.98 261219 chr19 50391523 50391523 G A rs770423540 TBC1D17 Synonymous SNV E532E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 261220 chr7 90003618 90003618 A C GTPBP10 Nonsynonymous SNV T102P 0.002 0 0 0 2 0 0 0 0 0 0 0 28 261221 chr7 5410726 5410726 C T TNRC18 Nonsynonymous SNV E1167K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 261222 chr7 91690617 91690617 C T AKAP9 Nonsynonymous SNV S1882L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 261223 chr6 41652450 41652450 C T rs981508062 TFEB Nonsynonymous SNV D355N 0.002 0 0 0 2 0 0 0 0 0 0 0 19.63 261224 chr19 17330079 17330079 C T rs371303603 USE1 Synonymous SNV L160L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.23 261225 chr19 33183290 33183290 C T rs367850774 NUDT19 Nonsynonymous SNV R142W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 261226 chr15 59191692 59191692 G C SLTM Nonsynonymous SNV T327S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 261227 chr15 59813464 59813464 G A rs143217762 FAM81A Nonsynonymous SNV V332I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.447 261228 chr19 51518692 51518692 C T rs142960865 KLK10 Nonsynonymous SNV R220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 261229 chr19 34868409 34868409 G A rs141002760 GPI Nonsynonymous SNV R135H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 261230 chr19 17837537 17837537 G A MAP1S Synonymous SNV L422L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.569 261231 chr8 10285723 10285723 T C rs144164741 MSRA Synonymous SNV Y163Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 261232 chr19 19038973 19038973 G A DDX49 Nonsynonymous SNV A434T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.85 261233 chr8 21560485 21560485 G A rs146520862 GFRA2 Synonymous SNV N217N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.12 261234 chr8 21960413 21960413 G A rs371562419 FAM160B2 Nonsynonymous SNV V734I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.952 261235 chr8 108970478 108970478 T A rs147756016 RSPO2 Nonsynonymous SNV H85L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 261236 chr7 89859244 89859244 A G rs934385676 STEAP2 Nonsynonymous SNV Y360C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.2 261237 chr19 53770304 53770304 T G rs142023427 VN1R4 Synonymous SNV I205I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.166 261238 chr19 23542403 23542403 T G rs201124990 ZNF91 Synonymous SNV I1094I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.752 261239 chr8 25319571 25319571 A G rs769313423 CDCA2 Synonymous SNV G63G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 261240 chr15 59784556 59784556 C T rs190181943 FAM81A Synonymous SNV S127S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 261241 chr8 124383941 124383941 G C ATAD2 Nonsynonymous SNV Q169E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 261242 chr7 99697327 99697327 T A MCM7 Nonsynonymous SNV D54V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 261243 chr7 99709820 99709820 G A rs199557645 TAF6 Nonsynonymous SNV R248W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.9 261244 chr6 6167822 6167822 C T rs138754417 F13A1 Nonsynonymous SNV G593S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.399 261245 chr19 33263757 33263757 G T TDRD12 0 0 0 1 0 0 0.003 0 0 0 0 0 24 261246 chr6 64451810 64451810 C G rs556660906 EYS Nonsynonymous SNV K2710N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.418 261247 chr19 40711185 40711185 C A MAP3K10 Nonsynonymous SNV D390E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 261248 chr8 131916033 131916033 G A rs750606350 ADCY8 Synonymous SNV I632I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.96 261249 chr19 33579157 33579157 C G rs200492580 GPATCH1 Nonsynonymous SNV T64S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 261250 chr15 65917781 65917781 G A SLC24A1 Nonsynonymous SNV V455M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 261251 chr19 41622194 41622194 C T CYP2F1 Nonsynonymous SNV P34L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 261252 chr8 133981780 133981780 A G TG Nonsynonymous SNV K1981E 0.002 0 0 0 2 0 0 0 0 0 0 0 26 261253 chr15 69708397 69708397 G A rs139012996 KIF23 Nonsynonymous SNV V26I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 261254 chr8 10470446 10470446 T G rs772279526 RP1L1 Synonymous SNV R388R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.415 261255 chr8 41584803 41584803 G A rs750852392 ANK1 Synonymous SNV L131L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.9 261256 chr8 139164963 139164963 A G rs761094210 FAM135B Synonymous SNV Y585Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 261257 chr8 42608381 42608381 C T rs55662044 CHRNA6 Nonsynonymous SNV V461I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18 261258 chr8 10467589 10467589 - CTTGCAGCCCTTCTTCTGTTTTAGTCC RP1L1 E1339_E1340insGTKTEEGLQ 0 0.003 0 0 0 1 0 0 0 0 0 0 261259 chr19 42776258 42776258 G A CIC Nonsynonymous SNV R108H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 261260 chr8 54900810 54900810 G A rs762104105 TCEA1 Synonymous SNV S89S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.14 261261 chr19 36361822 36361822 C G rs144561889 APLP1 Nonsynonymous SNV R106G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 261262 chr8 55542309 55542309 A G rs371291077 RP1 Nonsynonymous SNV H1956R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 261263 chr19 37383253 37383253 T G rs74941316 ZNF829 Nonsynonymous SNV Q147P 0 0 0 2 0 0 0.005 0 0 0 0 0 19.48 261264 chr15 80191280 80191280 T A rs184575290 ST20 0 0 0.003 0 0 0 0 1 0 0 0 0 6.684 261265 chr19 44564626 44564626 G A ZNF223 Nonsynonymous SNV D12N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 261266 chr19 38931451 38931451 G A rs377558801 RYR1 Nonsynonymous SNV A38T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 261267 chr19 38990614 38990614 C T rs77310009 RYR1 Synonymous SNV A2427A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 15.78 261268 chr19 38991600 38991600 C T rs1465698 RYR1 Synonymous SNV P2528P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 17.75 261269 chr19 39086580 39086580 A G rs17847683 MAP4K1 Synonymous SNV D726D 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.691 261270 chr15 86118485 86118485 T C rs376166636 AKAP13 Synonymous SNV H262H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 261271 chr19 39882257 39882257 G T rs145662630 MED29 Synonymous SNV P65P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.29 261272 chr19 40430384 40430384 C T rs752253860 FCGBP Nonsynonymous SNV R520Q 0 0 0 2 0 0 0.005 0 0 0 0 0 35 261273 chr19 47349292 47349292 G A rs368988346 AP2S1 Synonymous SNV A53A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.27 261274 chr8 145583729 145583729 G A rs781928955 SLC52A2 Nonsynonymous SNV A193T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 261275 chr20 1460495 1460495 G A rs200805923 SIRPB2 Nonsynonymous SNV R101W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 261276 chr15 90280813 90280813 T - rs777328028 WDR93 S513Pfs*207 0 0 0.003 0 0 0 0 1 0 0 0 0 261277 chr8 146033555 146033555 C T rs368738889 ZNF517 Synonymous SNV H411H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.07 261278 chr8 146035659 146035659 G A rs1043749367 LOC100130027 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 261279 chr8 1616572 1616572 A T rs377576966 DLGAP2 Nonsynonymous SNV T630S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 261280 chr19 49106949 49106949 C T rs766951316 FAM83E Synonymous SNV P326P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.04 261281 chr15 92715046 92715046 G A rs185565789 SLCO3A1 Nonsynonymous SNV C678Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 261282 chr19 49364745 49364745 C T PLEKHA4 Synonymous SNV E93E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.6 261283 chr16 739615 739615 G A WDR24 Nonsynonymous SNV T9I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 261284 chr8 144788948 144788948 A T rs113664805 CCDC166 Nonsynonymous SNV D412E 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.486 261285 chr8 144812350 144812350 T C rs782358046 FAM83H Nonsynonymous SNV S135G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.71 261286 chr16 1265028 1265028 C T rs60938322 CACNA1H Synonymous SNV F1656F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.85 261287 chr16 11370155 11370155 C T rs781212087 PRM2 Nonsynonymous SNV E25K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.79 261288 chr8 144999259 144999259 C T rs782102511 PLEC Nonsynonymous SNV R1599Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.33 261289 chr9 115759539 115759539 G C rs202097035 ZNF883 Stop gain S334X 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 261290 chr16 12798882 12798882 G A rs186670586 CPPED1 Nonsynonymous SNV T105M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 16.35 261291 chr16 14041970 14041970 C T rs200715555 ERCC4 Synonymous SNV P839P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.66 261292 chr20 21346265 21346265 G A rs754800864 XRN2 Synonymous SNV R871R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 261293 chr20 13090819 13090819 G A rs61746220 SPTLC3 Nonsynonymous SNV R296H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 12.84 261294 chr8 145660877 145660877 G A TONSL Synonymous SNV F944F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.033 261295 chr9 117849382 117849382 C T rs144032672 TNC Nonsynonymous SNV G210S 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 28.3 261296 chr7 1098106 1098106 C T rs201640274 GPR146 Nonsynonymous SNV R319W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 261297 chr16 3050515 3050515 A G rs778548272 LOC101929613 0.001 0 0 0 1 0 0 0 0 0 0 0 0.82 261298 chr16 20797527 20797527 C T rs759361026 ACSM3 Nonsynonymous SNV T424I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.578 261299 chr19 52496952 52496952 G A rs142513555 ZNF615 Synonymous SNV T464T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.448 261300 chr8 17500228 17500228 C A rs146087994 PDGFRL Nonsynonymous SNV T349K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 261301 chr16 2294476 2294476 G C rs778249875 ECI1 Stop gain Y124X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 261302 chr16 2345668 2345668 G A rs768544078 ABCA3 Synonymous SNV H779H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.261 261303 chr19 49238458 49238458 C T RASIP1 Nonsynonymous SNV A392T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 261304 chr16 23492022 23492022 C T rs142146460 GGA2 Nonsynonymous SNV R317Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 261305 chr19 53553735 53553735 A T rs762088748 ERVV-2 Nonsynonymous SNV N411Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 261306 chr8 42294643 42294643 G T SLC20A2 Nonsynonymous SNV P463T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.18 261307 chr7 128037071 128037071 C T rs781329681 IMPDH1 Synonymous SNV S250S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 261308 chr8 4494980 4494980 G T rs36074048 CSMD1 Synonymous SNV I62I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 261309 chr19 54313629 54313629 G A rs367627684 NLRP12 Synonymous SNV S428S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.659 261310 chr9 130198240 130198240 G A rs368686424 ZNF79 Nonsynonymous SNV A72T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 261311 chr19 54578201 54578201 G A rs758163798 TARM1 Nonsynonymous SNV A79V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 261312 chr16 11650441 11650441 G A rs141862602 LITAF Nonsynonymous SNV T49M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.12 261313 chr19 50412484 50412484 G A rs767155802 NUP62 Nonsynonymous SNV T194M 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.9 261314 chr19 54971995 54971995 G A rs768406700 LENG8 Nonsynonymous SNV E764K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 261315 chr8 25237906 25237906 T A DOCK5 Nonsynonymous SNV L1341H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 261316 chr9 131870137 131870137 G A rs764154936 CRAT Synonymous SNV L83L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.706 261317 chr16 31213903 31213903 C T rs141037758 PYCARD Nonsynonymous SNV G37R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 261318 chr8 77763677 77763677 G C ZFHX4 Nonsynonymous SNV S1507T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.17 261319 chr19 51844688 51844688 G A rs189447976 VSIG10L Nonsynonymous SNV T205I 0 0 0 2 0 0 0.005 0 0 0 0 0 18.94 261320 chr19 55870428 55870428 G A rs778170525 FAM71E2 Nonsynonymous SNV T603M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.13 261321 chr19 51960729 51960729 C T rs370112420 SIGLEC8 Nonsynonymous SNV R240H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.704 261322 chr19 56012161 56012161 C T SSC5D Synonymous SNV L869L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.97 261323 chr9 135522311 135522311 C A rs200748132 DDX31 Nonsynonymous SNV D473Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 261324 chr16 4748510 4748510 G A rs754255284 ANKS3 Nonsynonymous SNV R375C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 261325 chr16 30913504 30913504 C A CTF1 Nonsynonymous SNV H83N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 261326 chr7 150028036 150028036 C T rs146755949 ZBED6CL Synonymous SNV S181S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.712 261327 chr9 139360546 139360546 C T rs781277506 SEC16A Nonsynonymous SNV E1391K 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 261328 chr7 150068475 150068475 G C rs35090619 REPIN1 Nonsynonymous SNV G49R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 261329 chr19 53643733 53643733 T C rs573890584 ZNF347 Nonsynonymous SNV H784R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.2 261330 chr7 150932414 150932414 C G CHPF2 Nonsynonymous SNV Q182E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.69 261331 chr9 113703734 113703734 T C LPAR1 Nonsynonymous SNV M254V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.99 261332 chr9 140243726 140243726 C T rs180673666 EXD3 Nonsynonymous SNV A556T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 261333 chr9 115456447 115456447 A C rs147002098 INIP Star tloss M1R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 261334 chr9 140451255 140451255 A - DPH7 V321Afs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 261335 chr9 116191221 116191221 G A rs761166698 C9orf43 Synonymous SNV A383A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.202 261336 chr9 18928740 18928740 C G SAXO1 Synonymous SNV R180R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.773 261337 chr19 55870798 55870827 GGGATGGAGCAGGTATGGCTGGGGCCTTCT - FAM71E2 Q470_S479del 0 0 0 2 0 0 0.005 0 0 0 0 0 261338 chr16 70508031 70508031 G A FCSK 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 261339 chr9 107298098 107298098 C A rs779920354 OR13C3 Nonsynonymous SNV V333L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 261340 chr16 71956517 71956517 C T IST1 Synonymous SNV P83P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 261341 chr16 81953182 81953182 C T rs367677388 PLCG2 Synonymous SNV L716L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 18.36 261342 chr16 836231 836231 C T rs773438546 RPUSD1 Nonsynonymous SNV E91K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 261343 chr19 56671133 56671133 G A ZNF444 Nonsynonymous SNV E182K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 261344 chr19 56719950 56719950 C G rs747290452 ZSCAN5C Nonsynonymous SNV A291G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.115 261345 chr9 130529489 130529489 A G rs775657704 SH2D3C Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 2.894 261346 chr20 17208090 17208090 G T PCSK2 Nonsynonymous SNV R47L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 261347 chr16 84523026 84523026 A C rs769938410 MEAK7 Nonsynonymous SNV F129L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 261348 chr21 43510469 43510469 C T UMODL1 Synonymous SNV N284N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.585 261349 chr16 86371344 86371344 C T rs201097550 LINC00917 0 0 0.003 0 0 0 0 1 0 0 0 0 2.813 261350 chr9 13121783 13121783 T C MPDZ Nonsynonymous SNV Q1696R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 261351 chr9 6533116 6533116 C T rs146045718 GLDC Synonymous SNV R988R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.642 261352 chr20 19664839 19664839 A C rs373421591 SLC24A3 Synonymous SNV A307A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.509 261353 chr7 36662805 36662805 G A rs756590051 AOAH Synonymous SNV S159S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.247 261354 chr16 88495428 88495428 G T rs758781186 ZNF469 Nonsynonymous SNV S517I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 261355 chr7 44104604 44104604 C T rs144310510 PGAM2 Nonsynonymous SNV R141Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 261356 chr16 88786488 88786488 G A PIEZO1 Synonymous SNV A2051A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.733 261357 chr7 44302605 44302605 G A rs371901503 CAMK2B Synonymous SNV I73I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.931 261358 chr16 88494601 88494601 T C rs150745096 ZNF469 Synonymous SNV N241N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.082 261359 chr20 34061878 34061878 G C CEP250 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 261360 chr20 34135253 34135253 T C rs142274713 ERGIC3 Nonsynonymous SNV I153T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.83 261361 chr9 136342247 136342247 C T rs368333704 SLC2A6 Synonymous SNV A124A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 261362 chr20 35444113 35444113 G A SOGA1 Synonymous SNV L578L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.529 261363 chr9 98871287 98871287 A C LOC158434 0 0 0 1 0 0 0.003 0 0 0 0 0 0.817 261364 chr22 17586757 17586757 T C rs140221307 IL17RA Nonsynonymous SNV W320R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 261365 chrX 100808293 100808293 C T rs149444613 ARMCX1 Nonsynonymous SNV A127V 0.003 0 0 2 3 0 0.005 0 1 0 0 1 0.384 261366 chr9 138678205 138678205 C T rs370085077 KCNT1 Nonsynonymous SNV R1069W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 32 261367 chr20 3657782 3657782 C T rs373530446 ADAM33 Synonymous SNV K62K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.363 261368 chr17 11648280 11648280 T A DNAH9 Nonsynonymous SNV L2093Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 261369 chr22 20128156 20128156 G A rs149081886 ZDHHC8 Nonsynonymous SNV R226H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 261370 chr20 3677750 3677750 C A rs780180934 SIGLEC1 Nonsynonymous SNV V788L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 261371 chrX 114426593 114426593 G C RBMXL3 Nonsynonymous SNV E863D 0 0 0 3 0 0 0.008 0 0 0 0 1 12.46 261372 chr9 131446203 131446203 C T rs992067058 SET Nonsynonymous SNV P10L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 261373 chr22 19951305 19951305 C G rs376460351 MIR4761 0.003 0 0 0 3 0 0 0 0 0 0 0 4.006 261374 chr22 19959431 19959431 G A rs772252724 ARVCF Nonsynonymous SNV A920V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.145 261375 chr20 44534995 44534995 C T rs767388138 PLTP Nonsynonymous SNV R111H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 261376 chr7 64291370 64291370 T C ZNF138 Synonymous SNV S61S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.65 261377 chr22 21799870 21799870 G T rs200309943 HIC2 Nonsynonymous SNV G229V 0.003 0 0 0 3 0 0 0 0 0 0 0 17.71 261378 chr22 21799871 21799871 C T rs199679804 HIC2 Synonymous SNV G229G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.654 261379 chr20 49226112 49226112 C T rs925915885 RIPOR3 Nonsynonymous SNV E192K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 261380 chr9 134151507 134151507 G T rs61738264 FAM78A Synonymous SNV A20A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.371 261381 chr9 140064280 140064280 C T LRRC26 Nonsynonymous SNV G39D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.405 261382 chr17 18181153 18181153 C T rs544471583 TOP3A Nonsynonymous SNV G793D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.79 261383 chr22 24984275 24984275 G A rs114324143 LRRC75B Nonsynonymous SNV S110L 0.005 0 0 0 6 0 0 0 0 0 0 0 19.74 261384 chr22 29130695 29130695 C T rs145183886 CHEK2 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.77 261385 chr20 30053314 30053314 C T rs143786425 DEFB124 Nonsynonymous SNV E71K 0 0 0 2 0 0 0.005 0 0 0 0 0 9.627 261386 chr7 86988616 86988616 G T rs762517024 CROT Nonsynonymous SNV L70F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 261387 chr17 2186076 2186076 A G rs201819128 SMG6 Synonymous SNV T842T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 261388 chr7 881651 881651 C T rs183872262 SUN1 Nonsynonymous SNV T112M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 13.54 261389 chrX 37935852 37935852 G A SYTL5 Nonsynonymous SNV R196K 0 0 0 2 0 0 0.005 0 0 0 0 1 11.64 261390 chr22 36055415 36055415 G A rs138269979 APOL6 Synonymous SNV A268A 0.003 0 0 0 4 0 0 0 0 0 0 0 6.49 261391 chr17 5087360 5087360 G A rs188927890 ZNF594 Synonymous SNV S64S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.875 261392 chr7 92730773 92730773 A G rs375424281 SAMD9 Synonymous SNV N1546N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.628 261393 chr17 27942821 27942821 C A rs772136445 CORO6 Nonsynonymous SNV V215L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 261394 chr20 36859616 36859616 C T rs755597601 KIAA1755 Nonsynonymous SNV C620Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 261395 chr22 38221369 38221369 C T rs527802615 GALR3 Synonymous SNV C333C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.934 261396 chr20 40713407 40713407 G A rs768298187 PTPRT Nonsynonymous SNV R1351C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 261397 chrX 70147839 70147839 G A rs149183635 SLC7A3 Synonymous SNV I284I 0 0 0 3 0 0 0.008 0 0 0 0 1 3.152 261398 chr9 36121659 36121659 G A rs968106629 RECK Nonsynonymous SNV V890I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 261399 chr20 43580602 43580602 C T rs756307089 TOMM34 Nonsynonymous SNV R141H 0 0 0 2 0 0 0.005 0 0 0 0 0 34 261400 chr9 37503182 37503182 C A rs143629990 POLR1E Synonymous SNV R415R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 261401 chr20 44444032 44444032 G C rs200696786 UBE2C Nonsynonymous SNV V45L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.017 261402 chr9 5968655 5968655 A C rs373108263 KIAA2026 Nonsynonymous SNV C526G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 261403 chr20 44507041 44507041 G A rs150906252 ZSWIM3 Nonsynonymous SNV R615Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.73 261404 chr9 18817222 18817222 C T ADAMTSL1 Synonymous SNV N1307N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 261405 chr10 100481475 100481475 C T rs142102360 HPSE2 Nonsynonymous SNV A187T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 27.2 261406 chr17 34171663 34171686 GGCTATGGTGGGGACAGAGGCGGC - rs768749438 TAF15 G475_G482del 0 0 0.003 0 0 0 0 1 0 0 0 0 261407 chr17 7674231 7674231 C T rs772727841 DNAH2 Nonsynonymous SNV R1448C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 261408 chr20 47734339 47734339 T C STAU1 Nonsynonymous SNV Y420C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 261409 chr20 47852758 47852758 G A rs957074506 DDX27 Nonsynonymous SNV G531E 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 261410 chr8 10468988 10468988 C T rs12114682 RP1L1 Nonsynonymous SNV G874S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.05 261411 chr17 7946133 7946133 C T rs772132269 ALOX15B Nonsynonymous SNV R203C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 261412 chr22 45243916 45243916 G A ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV R245K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 261413 chr17 35988631 35988631 A G rs150658144 DDX52 Nonsynonymous SNV F278S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 261414 chr8 10469829 10469829 C T rs78127667 RP1L1 Synonymous SNV T593T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.08 261415 chr9 32419040 32419040 C T rs199543469 ACO1 Synonymous SNV V221V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.34 261416 chr8 10623381 10623381 T C rs754026759 PINX1 Nonsynonymous SNV N147S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 261417 chr8 110308776 110308776 C T rs11550168 NUDCD1 Nonsynonymous SNV R70Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 261418 chr8 110457700 110457700 G A rs112881027 PKHD1L1 Nonsynonymous SNV E1868K 0.002 0 0 0 2 0 0 0 0 0 0 0 9.472 261419 chr17 38787005 38787005 C T rs755389218 SMARCE1 Nonsynonymous SNV E330K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.66 261420 chr21 37442760 37442760 G A rs538650389 LOC100133286 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.64 261421 chr9 5072515 5072515 T C rs763125893 JAK2 Synonymous SNV T406T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.249 261422 chr9 71114210 71114210 G A rs113668048 PGM5 Nonsynonymous SNV R516Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 261423 chr9 72874134 72874134 C A rs745376589 SMC5 Nonsynonymous SNV P47H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.99 261424 chrX 107418908 107418908 G A rs774641536 COL4A6 Nonsynonymous SNV R936C 0.002 0 0 0 2 0 0 0 1 0 0 0 21.1 261425 chr9 74365117 74365117 G T rs759198928 CEMIP2 Nonsynonymous SNV A58E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 261426 chrX 128624134 128624134 T C SMARCA1 Synonymous SNV V605V 0.002 0 0 0 2 0 0 0 1 0 0 0 6.852 261427 chr20 62153209 62153209 G C rs754699754 PPDPF Nonsynonymous SNV A108P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.024 261428 chrX 135789085 135789085 T C ARHGEF6 Nonsynonymous SNV N189S 0.002 0 0 0 2 0 0 0 1 0 0 0 7.808 261429 chr9 82335164 82335164 C T rs374764115 TLE4 Synonymous SNV D504D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.726 261430 chrX 153187248 153187248 G A ARHGAP4 Synonymous SNV L28L 0.002 0 0 0 2 0 0 0 1 0 0 0 10.39 261431 chr17 26851023 26851023 G T FOXN1 Synonymous SNV T12T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.113 261432 chrX 153641865 153641865 C T rs200405157 TAZ Nonsynonymous SNV H111Y 0.002 0 0 0 2 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 7.884 261433 chr17 43332645 43332645 C T rs765864683 SPATA32 Nonsynonymous SNV E302K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 261434 chrX 15529599 15529599 A G rs369144737 BMX Nonsynonymous SNV N95D 0.002 0 0 0 2 0 0 0 1 0 0 0 15.89 261435 chrX 17165588 17165588 C T rs754563907 REPS2 Nonsynonymous SNV P655L 0.002 0 0 0 2 0 0 0 1 0 0 0 32 261436 chrX 36397488 36397488 A G CFAP47 Nonsynonymous SNV H3070R 0.002 0 0 0 2 0 0 0 1 0 0 0 9.45 261437 chr21 47402620 47402620 C A rs143502850 COL6A1 Nonsynonymous SNV A57D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 261438 chr17 44962457 44962457 C T rs780160936 WNT9B Nonsynonymous SNV A321V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.641 261439 chrX 50653886 50653886 C T BMP15 Nonsynonymous SNV L35F 0.002 0 0 0 2 0 0 0 1 0 0 0 0.28 261440 chr17 45992727 45992727 C T rs755118037 SP2 Synonymous SNV Y19Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 261441 chr21 31964913 31964913 G A rs141367067 KRTAP6-3 Nonsynonymous SNV G50D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.34 261442 chrX 19983256 19983256 G T rs41309713 BCLAF3 Nonsynonymous SNV Q394K 0.004 0.003 0.007 0 5 1 0 2 0 0 1 0 0.255 261443 chr8 145140902 145140902 C T rs528572635 GPAA1 Synonymous SNV L580L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.48 261444 chrX 39934144 39934144 G A rs375342424 BCOR Nonsynonymous SNV P152L 0.002 0 0 0 2 0 0 0 1 0 0 0 26.9 261445 chrX 100748530 100748530 G A rs782041327 ARMCX4 Nonsynonymous SNV D1652N 0.004 0 0 0 5 0 0 0 2 0 0 0 1.954 261446 chrX 48321284 48321284 C T rs200111012 SLC38A5 Synonymous SNV L191L 0.002 0 0 0 2 0 0 0 1 0 0 0 14.83 261447 chr8 145170566 145170566 C T rs750197552 WDR97 Nonsynonymous SNV P1467L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 261448 chrX 130678052 130678052 C T OR13H1 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.353 261449 chr17 5356936 5356936 C T rs146917957 DHX33 Nonsynonymous SNV V281M 0 0 0.007 0 0 0 0 2 0 0 0 0 33 261450 chr21 40715056 40715056 T C rs373249932 HMGN1 Synonymous SNV K95K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.315 261451 chr17 37883696 37883696 C T rs759923732 ERBB2 Nonsynonymous SNV T1103I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.117 261452 chr17 56650578 56650578 G A rs753316612 TEX14 Nonsynonymous SNV H1159Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 261453 chr17 59949705 59949705 T A rs552196383 INTS2 Nonsynonymous SNV N900I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.49 261454 chr21 43702404 43702404 G A rs201037860 ABCG1 Synonymous SNV A203A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 261455 chrX 142718547 142718547 A C rs148256381 SLITRK4 Synonymous SNV T126T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 261456 chrY 15591445 15591445 T C rs9341273 UTY Nonsynonymous SNV E34G 0.003 0 0 0 4 0 0 0 2 0 0 0 12.15 261457 chr8 17814883 17814883 A G PCM1 Nonsynonymous SNV N586S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 261458 chr21 44427646 44427646 T C rs759696401 PKNOX1 Nonsynonymous SNV S33P 0 0 0 1 0 0 0.003 0 0 0 0 0 19.28 261459 chr8 17872190 17872190 T C PCM1 Synonymous SNV T1831T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.05 261460 chrX 102884943 102884943 C A rs34904221 TCEAL1 Synonymous SNV S33S 0.003 0 0 0 4 0 0 0 1 0 0 0 11.84 261461 chrX 105280479 105280479 C T rs1050086 SERPINA7 Nonsynonymous SNV D191N 0.003 0 0 0 4 0 0 0 1 0 0 0 Pathogenic 7.97 261462 chrX 106144104 106144104 G A rs192157677 RIPPLY1 Synonymous SNV L64L 0.003 0 0 0 4 0 0 0 1 0 0 0 7.101 261463 chr8 21978332 21978332 C A rs201739936 HR Nonsynonymous SNV R836L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.87 261464 chr10 104136818 104136818 G A rs757352828 GBF1 Nonsynonymous SNV R1472Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 261465 chr10 104165178 104165178 G A rs773125122 PSD Nonsynonymous SNV P751S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 261466 chr10 104165179 104165179 A G rs376765990 PSD Synonymous SNV T750T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.406 261467 chrX 36298730 36298730 G C CFAP47 Nonsynonymous SNV D2525H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 261468 chr17 72860419 72860419 T C FDXR Nonsynonymous SNV T245A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.245 261469 chr17 45895923 45895923 G T rs768966843 OSBPL7 Synonymous SNV A143A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.622 261470 chr17 7330635 7330635 C T rs532496564 SPEM2 Nonsynonymous SNV P442L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 261471 chr22 21350372 21350372 C T rs144092577 LZTR1 Synonymous SNV G730G 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 17.44 261472 chr8 2886912 2886912 T C CSMD1 Nonsynonymous SNV E2595G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.95 261473 chr17 47875810 47875810 T C rs763322626 KAT7 Nonsynonymous SNV M157T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 261474 chr22 39884252 39884252 C T rs371709468 MGAT3 Synonymous SNV G300G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.41 261475 chr10 105893397 105893397 A G rs201999098 CFAP43 Nonsynonymous SNV F1526S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 261476 chrX 78011455 78011455 A G LPAR4 Synonymous SNV E363E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.746 261477 chr10 116335276 116335276 G A rs200929910 ABLIM1 Synonymous SNV Y94Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 9.592 261478 chr17 74382530 74382530 G T SPHK1 Synonymous SNV L105L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.993 261479 chr22 24810525 24810525 T C rs778942594 SPECC1L Synonymous SNV T162T 0 0 0 2 0 0 0.005 0 0 0 0 0 7.915 261480 chr17 75878413 75878413 T C rs372526734 LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 0.225 261481 chr8 51465733 51465733 G C rs144350422 SNTG1 Nonsynonymous SNV K268N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.8 261482 chr1 1355529 1355529 G A ANKRD65 Nonsynonymous SNV A218V 0.003 0 0 0 3 0 0 0 1 0 0 0 1.792 261483 chr22 30403259 30403259 C T rs774410241 MTMR3 Synonymous SNV N276N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.041 261484 chr10 103558759 103558759 G A rs149208353 OGA Nonsynonymous SNV A497V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.701 261485 chr10 133963500 133963500 G A rs144158110 JAKMIP3 Synonymous SNV A580A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.621 261486 chr17 80196600 80196600 C T rs752406184 SLC16A3 Synonymous SNV H382H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 261487 chr17 8052091 8052091 G A rs372164120 PER1 Nonsynonymous SNV R307W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 261488 chr10 117823928 117823928 G T rs141076872 GFRA1 Nonsynonymous SNV S339Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 261489 chr10 129904610 129904610 G A MKI67 Synonymous SNV L1472L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.692 261490 chr17 8193864 8193866 AGA - SLC25A35 F265del 0 0 0.003 0 0 0 0 1 0 0 0 0 261491 chr22 38483155 38483155 - TCATGGGTGTCATGGGTG BAIAP2L2 M411_N412insTPMTPM 0 0 0 1 0 0 0.003 0 0 0 0 0 261492 chr9 100364990 100364990 G A rs370176840 TSTD2 Nonsynonymous SNV R438C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.6 261493 chrX 30268851 30268851 G A rs754534422 MAGEB1 Nonsynonymous SNV E81K 0.001 0 0 2 1 0 0.005 0 0 0 0 1 3.518 261494 chr9 101778358 101778358 C T rs141284607 COL15A1 Nonsynonymous SNV P535L 0.002 0 0 0 2 0 0 0 0 0 0 0 22 261495 chr9 114429120 114429120 A G DNAJC25-GNG10, GNG10 Nonsynonymous SNV Q36R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 261496 chr22 46930733 46930733 C T rs118087710 CELSR1 Nonsynonymous SNV V779I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.305 261497 chr17 76795825 76795825 A G rs200405634 USP36 Synonymous SNV S1016S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.47 261498 chr22 50469251 50469251 G C TTLL8 Nonsynonymous SNV A620G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.167 261499 chr22 50470420 50470420 G A rs761872781 TTLL8 Nonsynonymous SNV R484C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 261500 chr18 43532497 43532497 T C rs778126200 EPG5 Nonsynonymous SNV H374R 0 0 0.003 0 0 0 0 1 0 0 0 0 18 261501 chr18 43532575 43532575 T C rs761594653 EPG5 Nonsynonymous SNV Y348C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 261502 chr9 116794995 116794995 G A rs188014542 ZNF618 Synonymous SNV S352S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.947 261503 chr22 50720436 50720436 T C rs776615023 PLXNB2 Synonymous SNV P1064P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.826 261504 chrX 136649572 136649572 G T ZIC3 Nonsynonymous SNV R241L 0 0 0 2 0 0 0.005 0 0 0 0 1 32 261505 chr22 50906832 50906832 G A rs575948628 SBF1 Synonymous SNV D38D 0 0 0 2 0 0 0.005 0 0 0 0 0 8.967 261506 chr18 48702890 48702890 C T rs745925571 MEX3C Nonsynonymous SNV R604Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 261507 chr17 79847125 79847125 G A rs368235724 ALYREF Synonymous SNV D157D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.305 261508 chr10 45984814 45984814 C T MARCHF8 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 261509 chr1 26691101 26691101 C T rs184023011 ZNF683 Synonymous SNV P312P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.245 261510 chr10 26463306 26463306 G A MYO3A Nonsynonymous SNV M1371I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.373 261511 chr17 80115797 80115797 C T rs746425037 CCDC57 Nonsynonymous SNV A198T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.096 261512 chr10 102770048 102770048 G A rs745575428 PDZD7 Synonymous SNV S866S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 261513 chr17 80543916 80543916 C T rs146214667 FOXK2 Synonymous SNV H472H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 261514 chr17 80708303 80708303 C T rs368977042 FN3K Nonsynonymous SNV P201L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 261515 chr10 29169131 29169131 C T rs557593036 C10orf126 0.002 0 0 0 2 0 0 0 0 0 0 0 10.12 261516 chr9 127644154 127644154 G A rs761222606 GOLGA1 Nonsynonymous SNV T682M 0.002 0 0 0 2 0 0 0 0 0 0 0 24 261517 chr10 61011413 61011413 C T rs149458856 FAM13C Nonsynonymous SNV R421Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 261518 chr18 72998423 72998423 G A rs768800266 TSHZ1 Nonsynonymous SNV R354Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 28.6 261519 chr18 77246582 77246582 G A rs776569563 NFATC1 Synonymous SNV T337T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.871 261520 chr9 131112821 131112821 G A rs892304434 SLC27A4 Nonsynonymous SNV V282I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 261521 chrX 100416525 100416525 A G CENPI Synonymous SNV P701P 0 0 0 2 0 0 0.005 0 0 0 0 1 0.171 261522 chr18 19383888 19383888 C T rs201264511 MIB1 Synonymous SNV G464G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 16.01 261523 chr9 133769124 133769124 G A rs145979438 QRFP Synonymous SNV L34L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.492 261524 chrX 117700023 117700023 A G rs200850919 DOCK11 Nonsynonymous SNV H250R 0 0 0 2 0 0 0.005 0 0 0 0 1 22.5 261525 chr19 10798060 10798060 - GTGGCG rs765926567 ILF3 G709_S710insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 261526 chr9 135202876 135202876 C T rs756561642 SETX Nonsynonymous SNV S1370N 0.002 0 0 0 2 0 0 0 0 0 0 0 1.041 261527 chr19 1257072 1257072 G A rs371624768 MIDN Nonsynonymous SNV R403Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 261528 chr11 119243678 119243678 C T rs772082476 USP2 Nonsynonymous SNV M171I 0 0 0 1 0 0 0.003 0 0 0 0 0 17 261529 chrX 153038361 153038361 G C rs782345329 PLXNB3 Synonymous SNV L932L 0 0 0 4 0 0 0.01 0 0 0 0 2 5.579 261530 chr10 86007457 86007457 G A rs144223728 RGR Nonsynonymous SNV G64R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 261531 chr9 137802991 137802991 C T rs149439264 FCN1 Nonsynonymous SNV G241R 0.002 0 0.01 0 2 0 0 3 0 0 0 0 20.6 261532 chr18 45567412 45567412 T C rs762064635 ZBTB7C Nonsynonymous SNV S23G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 261533 chr10 129535941 129535941 A T rs754235951 FOXI2 Nonsynonymous SNV N135I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 261534 chrX 154028028 154028028 C T rs868940808 MPP1 Nonsynonymous SNV E2K 0 0 0 4 0 0 0.01 0 0 0 0 2 8.615 261535 chr10 129869150 129869150 A T PTPRE Nonsynonymous SNV I238F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 261536 chrY 2734854 2734854 C T rs35284970 RPS4Y1 Synonymous SNV S237S 0 0 0 2 0 0 0.005 0 0 0 0 1 11.57 261537 chrY 6932146 6932146 G A rs377026718 TBL1Y Nonsynonymous SNV R138Q 0 0 0 2 0 0 0.005 0 0 0 0 1 13.26 261538 chr18 47777937 47777937 G A rs12607385 CFAP53 Nonsynonymous SNV R231C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 24.9 261539 chr19 15297930 15297930 G A rs754644233 NOTCH3 Nonsynonymous SNV P609L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 261540 chr18 51807065 51807065 C G rs367942007 POLI Nonsynonymous SNV I154M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 261541 chr1 1018326 1018326 T C rs765047495 C1orf159 Nonsynonymous SNV R182G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.84 261542 chr9 139697186 139697186 C T rs201568805 CCDC183 Nonsynonymous SNV S205L 0.002 0 0 0 2 0 0 0 0 0 0 0 24 261543 chr10 97386500 97386500 C T rs745614904 ALDH18A1 Nonsynonymous SNV R159Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 261544 chr11 124739440 124739440 G A ROBO3 Synonymous SNV P194P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.87 261545 chr10 98346522 98346522 - GCA rs756972381 TM9SF3 L23_P24insL 0.001 0 0 0 1 0 0 0 0 0 0 0 261546 chr10 73558890 73558890 A C rs191154178 CDH23 Synonymous SNV T119T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 261547 chr18 59925286 59925286 A G rs146220305 RELCH Nonsynonymous SNV M668V 0.003 0 0 1 3 0 0.003 0 0 0 0 0 17.01 261548 chr9 139935382 139935382 G T rs757064176 NPDC1 Nonsynonymous SNV T147N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.6 261549 chr9 140110113 140110113 C T rs144419667 NDOR1 Nonsynonymous SNV P397S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.157 261550 chr11 125765831 125765831 T A PUS3 Nonsynonymous SNV T117S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 261551 chr9 140330566 140330566 C T rs144056206 ENTPD8 Nonsynonymous SNV V317I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.89 261552 chr1 3774259 3774259 G T rs777002674 DFFB Nonsynonymous SNV R31L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 261553 chr9 140392624 140392624 G A rs148776350 PNPLA7 Nonsynonymous SNV R586W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 261554 chr10 19676633 19676633 T G rs188972836 MALRD1 Nonsynonymous SNV W1540G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 261555 chr19 1789563 1789563 G A rs775241415 ATP8B3 Nonsynonymous SNV P844L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.567 261556 chr9 15307197 15307197 C A rs146201898 TTC39B Nonsynonymous SNV S42I 0.002 0 0 0 2 0 0 0 0 0 0 0 23 261557 chr11 130771682 130771682 T C rs187981669 SNX19 Nonsynonymous SNV S878G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.714 261558 chr19 18377999 18377999 A G rs759666619 IQCN Synonymous SNV Y117Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 261559 chr1 8384744 8384744 G A rs149034992 SLC45A1 Nonsynonymous SNV D119N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 261560 chr18 77798572 77798572 A G rs199954977 RBFA Nonsynonymous SNV N149S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 261561 chr19 21720189 21720189 G C rs117327054 ZNF429 Nonsynonymous SNV R381T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 261562 chr9 32633709 32633709 G - TAF1L T624Pfs*16 0.002 0 0 0 2 0 0 0 0 0 0 0 261563 chr9 6328649 6328649 T C rs142792619 TPD52L3 Synonymous SNV T18T 0.002 0 0 0 2 0 0 0 0 0 0 0 1.36 261564 chr11 109294904 109294904 G T rs765652295 C11orf87 Nonsynonymous SNV C182F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 261565 chr11 2443523 2443523 G A rs200361945 TRPM5 Nonsynonymous SNV P49L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 261566 chr19 3491720 3491720 C T DOHH Nonsynonymous SNV A227T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 261567 chr11 113281476 113281476 C T rs77930100 DRD2 Synonymous SNV K406K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 13.41 261568 chr9 90500655 90500655 G A rs573180007 SPATA31E1 Nonsynonymous SNV R418H 0.002 0 0 0 2 0 0 0 0 0 0 0 2.033 261569 chr19 4207548 4207548 G C rs940817350 ANKRD24 Synonymous SNV L196L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 261570 chr19 4216917 4216917 C T rs769269041 ANKRD24 Nonsynonymous SNV T587M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 261571 chr19 37976072 37976072 C T rs369157324 ZNF570 Synonymous SNV H474H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.065 261572 chr19 38380181 38380181 C A WDR87 Nonsynonymous SNV R1377I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 261573 chrX 100117224 100117224 A G rs182578795 NOX1 Nonsynonymous SNV F210S 0.003 0 0 0 3 0 0 0 1 0 0 0 4.098 261574 chr10 73437393 73437393 C G rs372380590 CDH23 Synonymous SNV A565A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 11.69 261575 chr1 27272161 27272161 C A rs374852689 NUDC Nonsynonymous SNV Q310K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 261576 chr10 74100866 74100866 C T rs761452946 DNAJB12 Nonsynonymous SNV G174S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 261577 chr10 74899078 74899078 T C rs746259542 ECD Synonymous SNV A427A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.063 261578 chr1 28800276 28800276 C A PHACTR4 Nonsynonymous SNV P355H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 261579 chr1 32198619 32198619 G A rs201556659 ADGRB2 Nonsynonymous SNV A1160V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 261580 chr19 42753605 42753605 G T rs200767779 ERF Nonsynonymous SNV P145H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.39 261581 chr19 42879662 42879662 G A rs146094970 MEGF8 Nonsynonymous SNV A2358T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 261582 chrX 147084761 147084761 C T FMR1NB Synonymous SNV P106P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.743 261583 chr1 36937102 36937102 - C rs890101650 CSF3R Frameshift insertion V406Gfs*7 0.002 0 0 1 2 0 0.003 0 1 0 0 0 261584 chr19 9000214 9000214 G A rs185355703 MUC16 Nonsynonymous SNV L13515F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 261585 chr11 124767038 124767038 G A rs201393279 ROBO4 Nonsynonymous SNV R64C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 34 261586 chr19 9073269 9073269 T C MUC16 Nonsynonymous SNV N4726S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 261587 chr1 156500984 156500984 C T rs749068871 IQGAP3 Nonsynonymous SNV E1387K 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 261588 chr19 45409180 45409180 G A rs563571689 APOE Nonsynonymous SNV D19N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.546 261589 chr19 9088056 9088056 G A rs931236097 MUC16 Synonymous SNV L1253L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.258 261590 chr11 19192006 19192006 C G rs374897174 ZDHHC13 Nonsynonymous SNV T378S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 16.35 261591 chr11 130278727 130278727 C T rs544040876 ADAMTS8 Nonsynonymous SNV R620Q 0.001 0 0 0 1 0 0 0 0 0 0 0 30 261592 chr11 130319216 130319216 T G rs767351466 ADAMTS15 Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.778 261593 chr19 48184223 48184223 C T rs934191154 BICRA Nonsynonymous SNV P599L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 261594 chr19 49261468 49261468 C T rs838130 FGF21 Synonymous SNV Y207Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.979 261595 chr19 49842603 49842603 T G CD37 Nonsynonymous SNV L166R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 261596 chr19 49964960 49964960 C T rs373916141 ALDH16A1 Nonsynonymous SNV P221L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 261597 chr11 2016920 2016920 G A H19 0.001 0 0 0 1 0 0 0 0 0 0 0 8.074 261598 chr1 82402445 82402445 T A rs774334338 ADGRL2 Synonymous SNV T107T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.77 261599 chr19 52000143 52000143 T C rs140005943 SIGLEC12 Synonymous SNV S412S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 261600 chr11 30902756 30902756 G A rs779601615 DCDC1 Stop gain R832X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 261601 chr11 57068059 57068059 C T rs752471974 TNKS1BP1 Synonymous SNV S1715S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 261602 chr11 46916189 46916189 G A rs146501212 LRP4 Synonymous SNV L497L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.98 261603 chr19 52888075 52888077 CAA - rs771907544 ZNF880 K415del 0 0 0.007 0 0 0 0 2 0 0 0 0 261604 chr19 52888079 52888079 G T rs769687437 ZNF880 Nonsynonymous SNV A416S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.792 261605 chr19 52888082 52888082 - GAGG rs773071098 ZNF880 Stop gain F417* 0 0 0.003 0 0 0 0 1 0 0 0 0 261606 chr19 17487861 17487861 G A rs1056601829 PLVAP Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.075 261607 chr19 53612539 53612539 A G ZNF415 Synonymous SNV F23F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.799 261608 chr11 59225127 59225127 G C OR4D6 Nonsynonymous SNV G232R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 261609 chr19 21365739 21365739 A C rs775080625 ZNF431 Nonsynonymous SNV K212N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 261610 chr19 21606855 21606855 A C ZNF493 Nonsynonymous SNV E337A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 261611 chr10 133769320 133769320 G A rs200325070 PPP2R2D Synonymous SNV T240T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.361 261612 chr10 134755530 134755530 C G rs931725459 CFAP46 Nonsynonymous SNV S43T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 261613 chr19 36277852 36277852 G A ARHGAP33 Nonsynonymous SNV S691N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 261614 chr1 120285545 120285545 C T rs868576068 PHGDH Nonsynonymous SNV T442M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 261615 chr19 58596719 58596719 C T ZSCAN18 Nonsynonymous SNV G153E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.45 261616 chr19 58858833 58858833 C T rs564533444 A1BG Nonsynonymous SNV E456K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 261617 chr11 5410956 5410956 C A rs143743236 OR51M1 Nonsynonymous SNV Q110K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 261618 chr19 6479012 6479012 C T rs757432826 DENND1C Nonsynonymous SNV G34S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 261619 chr19 41239109 41239109 G A rs767495962 ITPKC Nonsynonymous SNV R505H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 261620 chr1 154184935 154184935 C T rs751600738 C1orf43 Nonsynonymous SNV G117E 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 261621 chr11 66633676 66633676 C T rs556534486 PC Synonymous SNV P389P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 17.35 261622 chr1 158632635 158632635 C A SPTA1 Nonsynonymous SNV R774L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 261623 chr19 9077866 9077866 C T MUC16 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 261624 chr11 57087767 57087767 G A rs563320098 TNKS1BP1 Nonsynonymous SNV R172W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 261625 chr11 5730317 5730317 G A rs184007083 TRIM22 Synonymous SNV S308S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 261626 chr11 57479491 57479491 C G MED19 Nonsynonymous SNV G71A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 261627 chr1 10027488 10027488 C G rs116657308 MIR5697 0 0 0.007 0 0 0 0 2 0 0 0 0 0.077 261628 chr11 76115025 76115025 G C GVQW3 Nonsynonymous SNV R235P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.85 261629 chr19 46998345 46998345 C T rs141479764 PNMA8B Synonymous SNV E126E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 261630 chr19 48220199 48220199 C T rs140854893 EHD2 Synonymous SNV P110P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.31 261631 chr1 109394412 109394412 G A rs138466584 AKNAD1 Nonsynonymous SNV S292L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.202 261632 chr1 169292355 169292355 T A rs147020111 NME7 Nonsynonymous SNV K93I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 261633 chr1 110774887 110774887 G A rs536127949 KCNC4 Nonsynonymous SNV A622T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.462 261634 chr1 111060715 111060715 A C rs141420700 KCNA10 Nonsynonymous SNV I232S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 261635 chr19 49377186 49377186 G A rs202101320 PPP1R15A Synonymous SNV T232T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 261636 chr1 112309408 112309408 T G DDX20 Nonsynonymous SNV Y788D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 261637 chr11 92086994 92086994 C T rs72970548 FAT3 Synonymous SNV N572N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.401 261638 chr1 11716088 11716088 G A rs766009169 FBXO44 Nonsynonymous SNV A66T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 261639 chr19 50119126 50119126 A G PRR12 Nonsynonymous SNV E1716G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 261640 chr11 609002 609002 G A rs202144590 PHRF1 Synonymous SNV E1182E 0.003 0 0 0 3 0 0 0 0 0 0 0 3.94 261641 chr11 614243 614243 C T rs41313489 IRF7 Nonsynonymous SNV D217N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.88 261642 chr1 12439573 12439573 C T rs555293849 VPS13D Nonsynonymous SNV R3680C 0 0 0.003 0 0 0 0 1 0 0 0 0 29 261643 chr1 197061086 197061086 A G rs36004306 ASPM Nonsynonymous SNV L1547P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 261644 chr1 147096577 147096577 C T rs782624393 BCL9 Synonymous SNV A1366A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 261645 chr1 201180084 201180084 G A rs61396495 IGFN1 Synonymous SNV G2021G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.208 261646 chr1 151502487 151502487 C T rs140407178 CGN Nonsynonymous SNV R737W 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 33 261647 chr11 67176957 67176957 C T rs531173208 TBC1D10C Nonsynonymous SNV P257L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.97 261648 chr11 67203740 67203740 C T rs770190358 PTPRCAP Nonsynonymous SNV V29M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.94 261649 chr11 72421512 72421512 C T ARAP1 Nonsynonymous SNV G200D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 261650 chr1 155257573 155257573 C T rs774712848 HCN3 Synonymous SNV G548G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 261651 chr1 155282092 155282092 C T rs752341142 FDPS Nonsynonymous SNV T63M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 261652 chr11 64557733 64557733 A G MAP4K2 Synonymous SNV I717I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.218 261653 chr1 156195435 156195435 G A rs920607387 PMF1 Synonymous SNV A83A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.398 261654 chr1 156268844 156268844 C T rs150878852 VHLL Nonsynonymous SNV R46H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 261655 chr11 6644995 6644995 G A rs980046566 DCHS1 Nonsynonymous SNV R2638C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 261656 chr19 54754671 54754671 G A rs147283357 LILRB5 Synonymous SNV Y485Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 261657 chr19 55175670 55175670 C T rs1003078720 LILRB4 Nonsynonymous SNV P159L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 261658 chr11 102643604 102643604 G T rs147267769 MMP10 Stop gain Y400X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 37 261659 chr1 213062528 213062528 C G FLVCR1 Nonsynonymous SNV T485R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.48 261660 chr19 55670642 55670642 C T rs201919395 DNAAF3 Nonsynonymous SNV G539R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 4.433 261661 chr11 66084218 66084218 C T rs199828803 CD248 Nonsynonymous SNV C94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 261662 chr2 56108859 56108859 C T rs769690555 EFEMP1 Synonymous SNV E176E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.32 261663 chr11 72578969 72578969 G A rs138831216 FCHSD2 Synonymous SNV L417L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 261664 chr11 67059502 67059502 G A rs201999693 ANKRD13D Synonymous SNV Q194Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.322 261665 chr11 73418503 73418503 T C rs140666806 RAB6A Nonsynonymous SNV I120V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 261666 chr11 67842184 67842184 C T rs373710549 CHKA Synonymous SNV P192P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 261667 chr2 67630846 67630846 T G rs140496163 ETAA1 Synonymous SNV S344S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.077 261668 chr11 792650 792650 C A SLC25A22 Nonsynonymous SNV A164S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 261669 chr1 227843101 227843101 A T ZNF678 Stop gain K408X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 261670 chr1 228528807 228528807 C T rs372927125 OBSCN Synonymous SNV I5903I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.73 261671 chr1 230846133 230846133 G A rs143437550 AGT Nonsynonymous SNV A155V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 261672 chr11 74421918 74421918 G A rs754290244 CHRDL2 Synonymous SNV N71N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.27 261673 chr11 74985120 74985120 G C ARRB1 Synonymous SNV T304T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 261674 chr20 76995 76995 A G DEFB125 Synonymous SNV P136P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 261675 chr1 235345732 235345752 TAGACACTCTTCTGTATTGCA - ARID4B C742_L748del 0 0 0 1 0 0 0.003 0 0 0 0 0 261676 chr11 7674434 7674434 G A rs148183299 PPFIBP2 Synonymous SNV V729V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 261677 chr11 60899913 60899913 G A rs149358909 VPS37C Synonymous SNV R149R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 261678 chr12 40114856 40114856 C T rs932852158 C12orf40 Stop gain Q588X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 261679 chr11 94532962 94532962 G A rs748910484 AMOTL1 Synonymous SNV R152R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.155 261680 chr1 183090975 183090975 T C rs774105317 LAMC1 Nonsynonymous SNV M703T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.257 261681 chr1 183534893 183534893 C T rs778521448 NCF2 Nonsynonymous SNV D235N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 261682 chr20 3565376 3565376 T C rs145586479 ATRN Synonymous SNV T895T 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 Benign 8.8 261683 chr11 62398125 62398125 C T rs574607805 GANAB Nonsynonymous SNV R331H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 261684 chr20 3654079 3654079 C T rs778204922 ADAM33 Nonsynonymous SNV G352D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 261685 chr11 62416837 62416837 T C INTS5 Nonsynonymous SNV I239V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 261686 chr1 18961618 18961618 C T rs142754204 PAX7 Nonsynonymous SNV P112L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 261687 chr1 19223571 19223571 A G rs147869275 MIR1290 0 0 0.01 0 0 0 0 3 0 0 0 0 1.185 261688 chr1 20005433 20005433 C T rs371960724 HTR6 Nonsynonymous SNV P299S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 261689 chr1 201058586 201058586 C T rs370661912 CACNA1S Nonsynonymous SNV V234M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 261690 chr11 134237201 134237201 G A rs7945169 GLB1L2 Synonymous SNV S285S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 261691 chr1 203023052 203023052 C A rs866545862 PPFIA4 Nonsynonymous SNV L598M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 261692 chr12 52309053 52309053 C T rs55802125 ACVRL1 Synonymous SNV L273L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.72 261693 chr12 52470944 52470944 C T rs140684428 ATG101 Synonymous SNV R209R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.29 261694 chr12 110771929 110771929 G A ATP2A2 Nonsynonymous SNV R467H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 261695 chr20 31044076 31044076 T C rs369464443 NOL4L Nonsynonymous SNV M78V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 261696 chr2 136513156 136513156 T C rs532802799 UBXN4 Nonsynonymous SNV S135P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.47 261697 chr20 33345720 33345720 - TGC NCOA6 Q285_L286insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 261698 chr11 67188566 67188566 T C CARNS1 Nonsynonymous SNV L378P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.7 261699 chr12 11420206 11420206 C T rs200124888 PRB3 Nonsynonymous SNV A284T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 261700 chr1 209803082 209803082 A G LAMB3 Nonsynonymous SNV S378P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.367 261701 chr12 120607999 120607999 T C rs755079199 GCN1 Nonsynonymous SNV K498R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 261702 chr1 21044074 21044074 C T rs560896028 KIF17 Synonymous SNV P42P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 261703 chr11 28119249 28119249 T G rs142868710 KIF18A Nonsynonymous SNV E82D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 261704 chr11 28318434 28318434 T G rs768811395 METTL15 Nonsynonymous SNV I245S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 261705 chr11 3040493 3040493 C T rs777861752 CARS1 Nonsynonymous SNV R341H 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 35 261706 chr11 32949519 32949519 A G rs575378907 QSER1 Nonsynonymous SNV I112V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 261707 chr1 215960033 215960033 C T rs774882055 USH2A Nonsynonymous SNV V3456I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.95 261708 chr11 34502397 34502397 G A rs773801852 ELF5 Nonsynonymous SNV S103L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 261709 chr11 3744515 3744515 G C rs760313790 NUP98 Nonsynonymous SNV A626G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 261710 chr1 2237629 2237629 G A rs757701064 SKI Synonymous SNV Q646Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.14 261711 chr11 43923151 43923151 G T rs372711510 ALKBH3 Nonsynonymous SNV R182L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 261712 chr11 44626705 44626705 C G CD82 Synonymous SNV V78V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 261713 chr20 57570767 57570767 C T CTSZ Synonymous SNV G283G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 261714 chr12 1702090 1702090 C T rs201000076 FBXL14 Synonymous SNV P381P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.66 261715 chr12 14613631 14613631 A G rs71530944 ATF7IP Synonymous SNV V786V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.768 261716 chr12 6952174 6952174 G A rs782398283 GNB3 Nonsynonymous SNV R46Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 261717 chr20 61162229 61162229 G A rs782427313 MIR1-1HG Synonymous SNV P14P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.392 261718 chr12 13061458 13061458 G A GPRC5A Nonsynonymous SNV S92N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 261719 chr12 13061834 13061834 G A GPRC5A Nonsynonymous SNV M217I 0.002 0 0 0 2 0 0 0 0 0 0 0 1.371 261720 chr1 233372656 233372656 C T rs368704434 PCNX2 Nonsynonymous SNV V765I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 261721 chr12 132474560 132474560 A G EP400 Nonsynonymous SNV R821G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 261722 chr2 61149473 61149473 T G rs779702816 REL Nonsynonymous SNV F523V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 261723 chr12 32974364 32974364 C T rs759920696 PKP2 Nonsynonymous SNV A647T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.1 261724 chr12 40499429 40499429 A C rs1001866247 SLC2A13 Nonsynonymous SNV V61G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 261725 chr1 245849935 245849935 G A rs373888020 KIF26B Nonsynonymous SNV C1217Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 261726 chr1 246704333 246704333 C A TFB2M X397Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 261727 chr12 42778751 42778751 G A rs150775133 PPHLN1 Nonsynonymous SNV R119H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 261728 chr2 74597368 74597368 C T rs186892779 DCTN1 Nonsynonymous SNV R277H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 261729 chr12 2797824 2797824 C T rs532551057 CACNA1C Nonsynonymous SNV T2007I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.69 261730 chr2 85778145 85778145 A G rs757983323 GGCX Synonymous SNV S540S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.533 261731 chr12 2968523 2968523 G A rs151053319 FOXM1 Nonsynonymous SNV R510W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 261732 chr2 86371604 86371604 A G rs367567513 IMMT Synonymous SNV F687F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.146 261733 chr13 103518154 103518154 G A BIVM-ERCC5, ERCC5 Nonsynonymous SNV E698K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 261734 chr13 103718301 103718301 A G rs138949597 SLC10A2 Nonsynonymous SNV V100A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 261735 chr2 95941693 95941693 G A PROM2 Nonsynonymous SNV A104T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 261736 chr2 219209293 219209293 G A rs371356115 PNKD Synonymous SNV T304T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.27 261737 chr2 99688229 99688229 G A rs777761075 TSGA10 Synonymous SNV I240I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.61 261738 chr21 42824759 42824759 T C rs548180267 MX1 Nonsynonymous SNV M574T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.68 261739 chr1 25679392 25679392 C T rs573180713 TMEM50A Synonymous SNV F98F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 261740 chr21 43413758 43413758 G A rs987984427 ZBTB21 Synonymous SNV V149V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 261741 chr21 43536042 43536042 C T rs375502641 UMODL1 Nonsynonymous SNV R864C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 261742 chr1 27120998 27120998 G A rs201332799 PIGV Nonsynonymous SNV S158N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.82 261743 chr1 28208705 28208705 C T rs74840077 THEMIS2 Synonymous SNV C290C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 261744 chr1 31230532 31230532 T C rs74977890 LAPTM5 Nonsynonymous SNV T21A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 261745 chr21 45846577 45846577 C T rs113563173 TRPM2 Nonsynonymous SNV T1277M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 261746 chr1 32691815 32691815 C T rs193247056 EIF3I Synonymous SNV T98T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 261747 chr1 32937152 32937152 A C ZBTB8B Nonsynonymous SNV E309D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 261748 chr2 120438543 120438543 G A rs151245692 TMEM177 Synonymous SNV P38P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.26 261749 chr12 53722459 53722459 C T SP7 Nonsynonymous SNV G256D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.429 261750 chr13 39263394 39263394 G A rs749358845 FREM2 Nonsynonymous SNV R638Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.39 261751 chr1 39875981 39875981 C A KIAA0754 Nonsynonymous SNV P15H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 261752 chr1 40775784 40775784 G A rs534724125 COL9A2 Nonsynonymous SNV P264L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 261753 chr2 237276908 237276908 A G IQCA1 Nonsynonymous SNV V492A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.28 261754 chr2 238257255 238257255 - T COL6A3 0.001 0 0 0 1 0 0 0 0 0 0 0 261755 chr1 42938814 42938814 A G PPCS Nonsynonymous SNV I212V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.864 261756 chr12 57630844 57630844 G A rs149627042 NDUFA4L2 Nonsynonymous SNV R9C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 261757 chr2 239072912 239072912 G A rs749282109 ERFE Synonymous SNV A266A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.44 261758 chr2 159166018 159166018 G A rs771616364 CCDC148 Nonsynonymous SNV T200I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.93 261759 chr1 44363909 44363909 A T rs201834329 ST3GAL3 Nonsynonymous SNV N87Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 261760 chr2 163072427 163072427 G A FAP Nonsynonymous SNV P258S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 261761 chr12 6560316 6560316 C T rs535939434 CD27-AS1 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 9.856 261762 chr22 26176143 26176143 G A rs754694367 MYO18B Nonsynonymous SNV R730H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 261763 chr2 172965544 172965544 C G rs199559547 DLX2 Synonymous SNV P238P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.43 261764 chr14 105353341 105353341 C T rs1022812246 CEP170B Nonsynonymous SNV A852V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 261765 chr3 15115712 15115712 A C RBSN Synonymous SNV P644P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 261766 chr1 67394643 67394643 C T rs180917111 MIER1 Nonsynonymous SNV T80I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 261767 chr11 63996802 63996802 C T rs771788582 NUDT22 Synonymous SNV A188A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.05 261768 chr12 83251119 83251119 A G rs780539833 TMTC2 Synonymous SNV G138G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.014 261769 chr12 49426905 49426905 T C rs878924583 KMT2D Synonymous SNV Q3861Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 261770 chr22 41735104 41735104 G A ZC3H7B Nonsynonymous SNV S242N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 261771 chr1 89618091 89618091 T A GBP7 Nonsynonymous SNV E162V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 261772 chr13 110814632 110814632 G A rs149068853 COL4A1 Synonymous SNV H1469H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.962 261773 chr14 24034374 24034374 C T rs376117419 AP1G2 Nonsynonymous SNV R187Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.2 261774 chr11 67354004 67354004 C G rs191595383 GSTP1 Nonsynonymous SNV P197A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.461 261775 chr11 67379887 67379887 G T rs768582587 NDUFV1 Nonsynonymous SNV Q442H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 18.41 261776 chr13 24243160 24243160 A G rs144227429 TNFRSF19 Nonsynonymous SNV D258G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.537 261777 chr20 17389945 17389945 C T PCSK2 Nonsynonymous SNV P159L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 261778 chr11 72397124 72397124 C T rs887744886 ARAP1 Nonsynonymous SNV R1116H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 261779 chr20 18576871 18576871 C T rs753802514 DTD1 Nonsynonymous SNV P119L 0 0 0.007 0 0 0 0 2 0 0 0 0 29.6 261780 chr11 73075510 73075510 C A ARHGEF17 Nonsynonymous SNV D1805E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 261781 chr11 73686168 73686168 T C rs150573868 UCP2 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 261782 chr2 219483416 219483416 G A rs998141297 PLCD4 Nonsynonymous SNV R99H 0 0 0 1 0 0 0.003 0 0 0 0 0 28 261783 chr2 219509750 219509750 C G ZNF142 Nonsynonymous SNV A497P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 261784 chr11 75115720 75115720 G T rs368681048 RPS3 Synonymous SNV V55V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.1 261785 chr13 25457412 25457412 G A rs144251950 CENPJ Nonsynonymous SNV T1307I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 261786 chr13 28611377 28611377 G A FLT3 Synonymous SNV F418F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 261787 chr11 76872106 76872106 C T rs201839693 MYO7A Nonsynonymous SNV R430C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 261788 chr2 224463629 224463629 C A rs764917896 SCG2 Nonsynonymous SNV E124D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.42 261789 chr11 85435499 85435499 T C rs373034805 SYTL2 Synonymous SNV Q1634Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.112 261790 chr2 225639709 225639709 G T rs370524123 DOCK10 Nonsynonymous SNV R1970S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 261791 chr11 8718143 8718143 G A DENND2B Synonymous SNV Y621Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 261792 chr13 51519658 51519658 T C RNASEH2B Synonymous SNV T202T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.259 261793 chr2 233399037 233399037 G A CHRND Synonymous SNV Q258Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.501 261794 chrX 138612942 138612942 A T rs150190385 F9 Nonsynonymous SNV I7F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.22 261795 chr20 45905143 45905143 G A rs757103875 ZMYND8 Synonymous SNV D440D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.514 261796 chr2 238727171 238727171 A T RBM44 Nonsynonymous SNV I538L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 261797 chr20 49196458 49196458 C T rs370509709 PTPN1 Synonymous SNV I288I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 261798 chr20 50769041 50769041 T C rs371253933 ZFP64 Nonsynonymous SNV M510V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 261799 chr2 239170927 239170927 G A rs540945814 PER2 Synonymous SNV N404N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.214 261800 chrX 152034497 152034497 C T rs147293409 NSDHL Synonymous SNV F226F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.11 261801 chr2 242573413 242573413 T G rs776699758 THAP4 Synonymous SNV S53S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 261802 chr20 60575747 60575747 C T rs374052830 TAF4 Synonymous SNV S839S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 261803 chr12 109882070 109882070 A G rs752275423 MYO1H Synonymous SNV P943P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.515 261804 chr10 102057230 102057230 G A PKD2L1 Stop gain Q242X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 36 261805 chr14 21238745 21238745 G A rs540262572 EDDM3B Nonsynonymous SNV G146S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.169 261806 chr20 61993206 61993206 C T rs6122429 LOC100130587 0 0 0.007 0 0 0 0 2 0 0 1 0 10.43 261807 chr20 61993227 61993227 A C rs12625596 LOC100130587 0 0 0.007 0 0 0 0 2 0 0 1 0 0.48 261808 chr20 62103762 62103762 T G KCNQ2 Nonsynonymous SNV K19Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 261809 chr20 62178607 62178607 C T rs139150395 SRMS Synonymous SNV L70L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.019 261810 chr3 10183645 10183645 C T rs417164 VHL Synonymous SNV S38S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.07 261811 chr12 113424960 113424960 G A rs759287047 OAS2 Nonsynonymous SNV D99N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.319 261812 chr3 12581801 12581801 A G MKRN2OS Nonsynonymous SNV L188P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.83 261813 chr12 115112430 115112430 T C rs375076522 TBX3 Nonsynonymous SNV H417R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.39 261814 chr12 12037444 12037444 C A rs141938078 ETV6 Synonymous SNV R359R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 19.88 261815 chr14 23371263 23371268 GCGGCA - rs778062603 RBM23 A358_A359del 0.001 0 0 0 1 0 0 0 0 0 0 0 261816 chr21 15750562 15750562 G T rs760366167 HSPA13 Nonsynonymous SNV L180I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 261817 chr15 33359309 33359309 G C rs761176372 FMN1 Synonymous SNV A259A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 261818 chr14 24736959 24736959 C T RABGGTA Synonymous SNV T420T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 261819 chr14 24771273 24771273 T C rs147003638 NOP9 Nonsynonymous SNV I304T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 261820 chr21 36410870 36410875 CTCTCT - rs59976658 RUNX1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 261821 chr3 160130180 160130180 G A rs761150992 SMC4 Nonsynonymous SNV E307K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 261822 chr14 31814430 31814430 T - rs764346364 HEATR5A Y974Ffs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 261823 chr14 31814431 31814431 - TGT rs761999701 HEATR5A L973_Y974insT 0.001 0 0 0 1 0 0 0 0 0 0 0 261824 chr14 56104517 56104517 G T rs201224728 KTN1 Nonsynonymous SNV E579D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.16 261825 chr14 38152017 38152017 G C TTC6 Nonsynonymous SNV E385Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 261826 chr21 40792661 40792661 C T rs535073284 LCA5L Nonsynonymous SNV E316K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 261827 chr14 51221578 51221578 - TTTT NIN Frameshift insertion S803Kfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 261828 chr14 51221583 51221592 TATCTGAAGC - NIN R800_Y801delinsS 0.001 0 0 0 1 0 0 0 0 0 0 0 261829 chr13 86370473 86370473 A G rs377415959 SLITRK6 Synonymous SNV S57S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 261830 chr21 46876677 46876677 C A rs764709181 COL18A1 Nonsynonymous SNV F411L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 16.13 261831 chr3 195613909 195613909 C T TNK2 Nonsynonymous SNV R82Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 261832 chr15 62176402 62176402 G A rs115356484 VPS13C Synonymous SNV I3093I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 16.45 261833 chr15 62176444 62176444 T C rs763173400 VPS13C Synonymous SNV K3079K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.167 261834 chr22 21311717 21311717 C T LINC01637 0 0 0.003 0 0 0 0 1 0 0 0 0 9.275 261835 chr14 72944990 72944990 C T rs376111851 RGS6 Synonymous SNV N234N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 261836 chr3 52456850 52456850 A C PHF7 Nonsynonymous SNV N252T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 261837 chr3 56651453 56651453 C T rs199847659 CCDC66 Synonymous SNV Y686Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.093 261838 chr22 26176068 26176068 C T rs529599904 MYO18B Nonsynonymous SNV S705F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 261839 chr14 76241840 76241840 G A rs201405297 TTLL5 Nonsynonymous SNV R717H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 26.9 261840 chr12 47163077 47163077 G A rs139504322 SLC38A4 Synonymous SNV F478F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.256 261841 chr14 78021748 78021748 C T SPTLC2 Synonymous SNV R357R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 261842 chr14 81609934 81609934 C A TSHR Nonsynonymous SNV T511K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 261843 chr12 48737495 48737495 T C rs756902042 ZNF641 Nonsynonymous SNV H170R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.039 261844 chr12 49239376 49239376 G A rs193232040 DDX23 Nonsynonymous SNV R64C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 261845 chr3 97887600 97887600 T C rs370153970 OR5H15 Synonymous SNV Y19Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 261846 chr22 32871358 32871358 C T rs757960681 FBXO7 Nonsynonymous SNV P4S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 261847 chr14 94405967 94405967 G A ASB2 Synonymous SNV S320S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 261848 chr12 51449665 51449665 A G LETMD1 Nonsynonymous SNV K57R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 261849 chr14 31602785 31602785 T C HECTD1 Synonymous SNV Q1225Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.035 261850 chr15 81561965 81561965 C T rs199588509 IL16 Synonymous SNV I217I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.84 261851 chr3 113684008 113684008 G A rs145304274 CCDC191 Synonymous SNV N913N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.157 261852 chr15 86225411 86225411 C T AKAP13 Synonymous SNV T330T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.81 261853 chr15 22850913 22850913 C T rs200590158 TUBGCP5 Nonsynonymous SNV T392I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 261854 chr15 22892224 22892224 G C CYFIP1 Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.08 261855 chr15 22892247 22892247 G A rs552720304 CYFIP1 Nonsynonymous SNV R24H 0.003 0 0 0 3 0 0 0 0 0 0 0 3.123 261856 chr3 119219662 119219662 T G TIMMDC1 Nonsynonymous SNV I105M 0 0 0 1 0 0 0.003 0 0 0 0 0 25 261857 chr22 43576902 43576902 G A rs771565831 TTLL12 Nonsynonymous SNV A131V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 261858 chr15 33831576 33831576 T C RYR3 Synonymous SNV H153H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.205 261859 chr15 34651404 34651404 G C rs150097701 LPCAT4 Nonsynonymous SNV P500R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 261860 chr10 77158953 77158953 G C rs149554773 ZNF503 Nonsynonymous SNV P499A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 261861 chr22 50898734 50898734 G T rs368077071 SBF1 Nonsynonymous SNV P1085T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.723 261862 chr15 41021823 41021823 C T rs746555395 RAD51 Synonymous SNV L256L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 261863 chr15 41192742 41192742 C T VPS18 Nonsynonymous SNV H576Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 261864 chr15 56208745 56208745 C T rs113502754 NEDD4 Synonymous SNV R95R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.93 261865 chr3 130292965 130292965 A G rs544546359 COL6A6 Nonsynonymous SNV Y1048C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.09 261866 chr15 59350568 59350568 A C rs199895340 RNF111 Synonymous SNV V395V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.652 261867 chr15 62254653 62254653 T C rs113624690 VPS13C Nonsynonymous SNV M1131V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 261868 chr10 94220966 94220966 A G IDE Synonymous SNV D380D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.454 261869 chr2 105886075 105886075 A G TGFBRAP1 Nonsynonymous SNV V687A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 261870 chr15 45389859 45389859 G A rs144886975 DUOX2 Nonsynonymous SNV R1216W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 261871 chr16 1559877 1559877 G T rs374346534 TELO2 Synonymous SNV L818L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.202 261872 chr2 11268971 11268971 T C rs529374444 FLJ33534 0 0 0.003 0 0 0 0 1 0 0 0 0 0.538 261873 chr12 69094533 69094533 C T rs774346160 NUP107 Stop gain R165X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 261874 chr2 113514303 113514303 A G CKAP2L Synonymous SNV N50N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 261875 chr4 77662489 77662489 G A rs762760818 SHROOM3 Nonsynonymous SNV A1055T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 261876 chr12 70352243 70352243 A T rs1047682687 MYRFL Nonsynonymous SNV T889S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 261877 chr2 113675215 113675217 TCT - rs751390586 IL37 F31del 0 0 0.003 0 0 0 0 1 0 0 0 0 261878 chr16 1837966 1837966 C T rs781681314 NUBP2 Nonsynonymous SNV R31C 0 0.005 0 1 0 2 0.003 0 0 0 0 0 34 261879 chr15 58471439 58471439 T A AQP9 Nonsynonymous SNV I138N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 261880 chr14 93170630 93170635 CTCACA - rs562036898 LGMN V365_S366del 0 0 0 1 0 0 0.003 0 0 0 0 0 261881 chr11 1017617 1017619 CAC - MUC6 V1728del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 261882 chr2 131486929 131486929 C G rs201807263 GPR148 Nonsynonymous SNV L69V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.29 261883 chr11 1017621 1017621 - GCA MUC6 T1727delinsMP 0.001 0 0.003 0 1 0 0 1 0 0 0 0 261884 chr2 131486990 131486990 C T rs199627473 GPR148 Nonsynonymous SNV P89L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 261885 chr3 160142809 160142810 TA - rs749856363 SMC4 0.001 0 0 1 1 0 0.003 0 0 0 0 0 261886 chr15 101112210 101112210 G A LINS1 Nonsynonymous SNV S428F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 261887 chr16 2988334 2988334 G A rs201029011 FLYWCH1 Nonsynonymous SNV A643T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 261888 chr2 159477550 159477550 A G rs148019751 PKP4 Nonsynonymous SNV Q110R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 261889 chr13 103396328 103396328 C T rs543083793 CCDC168 Nonsynonymous SNV R2240Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.183 261890 chr16 321226 321226 C T rs148149079 RGS11 Nonsynonymous SNV A96T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 261891 chr15 38776569 38776569 T C rs75760193 FAM98B Synonymous SNV G337G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.159 261892 chr16 3432989 3432989 T C rs760474370 ZSCAN32 Nonsynonymous SNV K364E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 261893 chr13 111158825 111158825 G A rs1025762255 COL4A2 Nonsynonymous SNV G1489D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 261894 chr2 171375963 171375963 T C rs187423481 MYO3B Nonsynonymous SNV V1136A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 261895 chr2 177016480 177016480 G A HOXD4 Nonsynonymous SNV G40D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 261896 chr2 182322948 182322948 A G rs201919577 ITGA4 Nonsynonymous SNV N75D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 261897 chr4 266380 266380 T C ZNF732 Nonsynonymous SNV Q89R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.454 261898 chr11 121492942 121492942 C T SORL1 Synonymous SNV L2046L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 261899 chr16 602511 602511 G C rs58193217 CAPN15 Synonymous SNV P906P 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 0.279 261900 chr2 201790625 201790625 C T rs753004908 ORC2 Nonsynonymous SNV D361N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.55 261901 chr13 45983113 45983113 T A rs763488313 SLC25A30 Nonsynonymous SNV H3L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 261902 chr15 99901565 99901565 C G LRRC28 Synonymous SNV S171S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 261903 chr2 206580933 206580933 A C NRP2 Nonsynonymous SNV I90L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 261904 chr4 8469756 8469756 G - TRMT44 E297Sfs*30 0 0 0 1 0 0 0.003 0 0 0 0 0 261905 chr16 27459719 27459719 T C IL21R-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.285 261906 chr2 21233660 21233660 G T rs892830346 APOB Nonsynonymous SNV P2027Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 261907 chr13 96743256 96743256 - CCCGCCCGCCGTCCCGGGT HS6ST3 Frameshift insertion A58Pfs*125 0.001 0 0 0 1 0 0 0 0 0 0 0 261908 chr16 1815151 1815151 G A rs747063994 MAPK8IP3 Synonymous SNV A799A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.948 261909 chr13 99738515 99738515 G A DOCK9 Stop gain Q31X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 261910 chr2 216274717 216274717 C T rs375296345 FN1 Nonsynonymous SNV G688S 0 0 0.003 0 0 0 0 1 0 0 0 0 35 261911 chr11 15247248 15247248 C G rs375811848 INSC Synonymous SNV A306A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 261912 chr2 218677952 218677952 T C rs375433855 TNS1 Nonsynonymous SNV N1522S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 261913 chr16 30762584 30762584 G A rs535265672 PHKG2 Nonsynonymous SNV A85T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 261914 chr16 2026064 2026064 C A rs138435320 TBL3 Synonymous SNV V379V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.43 261915 chr16 30941470 30941470 G A rs760075736 FBXL19 Nonsynonymous SNV R309H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 261916 chr16 18860687 18860687 T C rs376900887 SMG1 Synonymous SNV Q1825Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.794 261917 chr16 19126526 19126526 C T rs958867392 ITPRIPL2 Nonsynonymous SNV A248V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 261918 chr16 2086451 2086451 C G rs34922370 SLC9A3R2 Nonsynonymous SNV P70A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.318 261919 chr16 20648733 20648733 G A rs774263598 ACSM1 Nonsynonymous SNV P386L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 261920 chr16 22192958 22192958 C T rs539918150 SDR42E2 Nonsynonymous SNV T468M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 261921 chr16 23481420 23481420 G A rs201439823 GGA2 Nonsynonymous SNV T506M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 261922 chr4 47560277 47560277 G A rs116180672 ATP10D Synonymous SNV S807S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.41 261923 chr2 225669952 225669952 A T rs376223850 DOCK10 Nonsynonymous SNV F1335Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 261924 chr16 2812932 2812932 C T rs893081916 SRRM2 Synonymous SNV S801S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.061 261925 chr16 29842273 29842273 G A rs201797714 MVP Nonsynonymous SNV R67Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 261926 chr16 30620882 30620882 G A rs146699442 ZNF689 Nonsynonymous SNV P95S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 261927 chr16 3304442 3304442 G A MEFV Nonsynonymous SNV S209F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 261928 chr4 71099802 71099802 A C FDCSP Synonymous SNV P52P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 261929 chr4 71099803 71099803 C A FDCSP Nonsynonymous SNV L53I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.912 261930 chr2 234858703 234858703 T A TRPM8 Synonymous SNV S351S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.055 261931 chr16 3900322 3900322 G T CREBBP Synonymous SNV T258T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.5 261932 chr4 77818251 77818251 G A SOWAHB Nonsynonymous SNV P251L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.26 261933 chr14 31806765 31806765 C T rs559636852 HEATR5A Nonsynonymous SNV R1095H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 261934 chr16 4949384 4949384 G A rs771062967 PPL Nonsynonymous SNV A203V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.8 261935 chr14 33290796 33290796 T G AKAP6 Synonymous SNV P1259P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.29 261936 chr2 242795044 242795044 G A rs55993679 PDCD1 Synonymous SNV S55S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.198 261937 chr16 57092963 57092963 G A rs376657094 NLRC5 Nonsynonymous SNV A1275T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 261938 chr2 26652630 26652630 T C rs149032953 DRC1 Synonymous SNV I225I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.206 261939 chr2 27448584 27448584 C T rs146242038 CAD Synonymous SNV A544A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign 15.86 261940 chr2 27457541 27457541 C T rs17855321 CAD Synonymous SNV V1195V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.44 261941 chr16 67997402 67997402 A G rs974828949 SLC12A4 Nonsynonymous SNV I59T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 261942 chr16 68404924 68404924 G A rs746272285 SMPD3 Synonymous SNV Y387Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.041 261943 chr16 68056433 68056453 GTTGGGCCACAGCCCGCACCT - DDX28 Q218_Q224del 0.001 0 0 0 1 0 0 0 0 0 0 0 261944 chr16 83813749 83813749 T C CDH13 Nonsynonymous SNV F581L 0 0.003 0 0 0 1 0 0 0 0 0 0 25 261945 chr14 59826214 59826214 G A rs372820007 DAAM1 Synonymous SNV A875A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 261946 chr17 25909887 25909887 G A KSR1 Nonsynonymous SNV G246S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.27 261947 chr14 59993841 59993841 C G rs200681540 CCDC175 Nonsynonymous SNV R605T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 261948 chr4 122053787 122053787 T A rs746215051 TNIP3 X326L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 261949 chr4 122053789 122053789 C A rs202104406 TNIP3 Synonymous SNV P325P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.115 261950 chr4 123302163 123302163 G T rs149759339 ADAD1 Synonymous SNV P63P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.382 261951 chr14 68251971 68251971 A - ZFYVE26 S1110Pfs*61 0.001 0 0 0 1 0 0 0 0 0 0 0 261952 chr2 60688508 60688508 G A rs777093227 BCL11A Synonymous SNV Y479Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.187 261953 chr14 73637524 73637524 A G PSEN1 Nonsynonymous SNV Q36R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 261954 chr17 34072486 34072486 G A rs373695691 GAS2L2 Nonsynonymous SNV P677L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.8 261955 chr2 72362525 72362525 G A rs746406112 CYP26B1 Synonymous SNV H76H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.87 261956 chr2 87017506 87017506 C G rs758030009 CD8A Synonymous SNV S116S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 261957 chr16 87367656 87367656 C T rs754727604 FBXO31 Synonymous SNV A411A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 261958 chr4 177650759 177650759 C G VEGFC Nonsynonymous SNV A97P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 261959 chr14 93720031 93720031 G A rs368923940 BTBD7 Nonsynonymous SNV R221C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 261960 chr16 87743194 87743194 C T rs142464429 KLHDC4 Nonsynonymous SNV G318E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 261961 chr2 97357300 97357300 C G rs978250076 FER1L5 Nonsynonymous SNV P1009R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.527 261962 chr2 97529723 97529723 C A rs780753088 SEMA4C Nonsynonymous SNV V424L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 261963 chr16 88792039 88792039 C T rs1051593745 PIEZO1 Nonsynonymous SNV R1341K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.869 261964 chr17 39183231 39183231 A G rs756063130 KRTAP1-5 Synonymous SNV S59S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.981 261965 chr17 39183239 39183239 T C KRTAP1-5 Nonsynonymous SNV S57G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 261966 chr11 56756801 56756801 G A rs757906890 OR5AK2 Nonsynonymous SNV R138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 261967 chr16 88712600 88712600 G A rs201755210 CYBA Nonsynonymous SNV S98L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.9 261968 chr11 57235176 57235176 C A RTN4RL2 Synonymous SNV P42P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 261969 chr16 88787586 88787586 C T rs757753448 PIEZO1 Nonsynonymous SNV A1886T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.205 261970 chr16 88804412 88804412 C G rs868678918 PIEZO1 Nonsynonymous SNV G317A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 261971 chr5 149915325 149915325 G A NDST1 Nonsynonymous SNV V439M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 261972 chr16 88884483 88884483 C T rs147290567 GALNS Nonsynonymous SNV V287I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 261973 chr16 89220513 89220513 G A rs146779456 ACSF3 Synonymous SNV P278P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.281 261974 chr16 89220523 89220523 C A ACSF3 Nonsynonymous SNV P282T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 261975 chr16 89349519 89349519 G A rs137894790 ANKRD11 Nonsynonymous SNV P1144L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 261976 chr16 89712374 89712374 A C rs117555004 CHMP1A Nonsynonymous SNV L224R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 5.891 261977 chr16 89712380 89712380 G A rs116954456 CHMP1A Nonsynonymous SNV A222V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 6.908 261978 chr3 118917981 118917981 C T UPK1B Synonymous SNV C242C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 261979 chr3 121100357 121100357 G A STXBP5L Synonymous SNV E855E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.824 261980 chr17 41362022 41362022 T C rs200155394 NBR1 Nonsynonymous SNV Y944H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 261981 chr5 34042955 34042955 T - rs758481865 C1QTNF3 A93Pfs*132 0 0 0 1 0 0 0.003 0 0 0 0 0 261982 chr17 13504282 13504282 C A rs375560183 HS3ST3A1 Synonymous SNV G55G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 261983 chr17 1631476 1631476 G A rs775007770 WDR81 Nonsynonymous SNV D1075N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 261984 chr3 12791274 12791274 T C rs764317274 TMEM40 Nonsynonymous SNV T36A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.155 261985 chr17 17068966 17068966 G A rs975761244 MPRIP Nonsynonymous SNV R1386Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 261986 chr11 62396453 62396453 C T rs962738612 GANAB Synonymous SNV E542E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 261987 chr11 62494202 62494202 C T rs780325912 HNRNPUL2 Nonsynonymous SNV G143S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 261988 chr11 63067056 63067056 G A rs554209308 SLC22A10 Nonsynonymous SNV R342H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.946 261989 chr3 13360763 13360763 C T rs375414642 NUP210 Nonsynonymous SNV A1816T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 261990 chr17 48559521 48559521 G A rs200691438 RSAD1 Nonsynonymous SNV A182T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 261991 chr3 134089794 134089794 C T rs201856617 AMOTL2 Nonsynonymous SNV R219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 261992 chr11 64359296 64359296 C T rs759293917 SLC22A12 Nonsynonymous SNV R90C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 261993 chr16 75681532 75681532 C T rs768389157 KARS1 Synonymous SNV A2A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.457 261994 chr5 64887644 64887644 G A rs143394952 TRIM23 Synonymous SNV D559D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.293 261995 chr17 48918257 48918257 C G WFIKKN2 Synonymous SNV G443G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.003 261996 chr17 2236982 2236982 A T rs777091022 TSR1 Nonsynonymous SNV M337K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 261997 chr3 148939487 148939487 C T rs201521886 CP Synonymous SNV T31T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.63 261998 chr17 28791711 28791713 ATG - rs763044272 CPD D1095del 0.001 0 0 0 1 0 0 0 0 0 0 0 261999 chr17 2995768 2995768 G A rs138968511 OR1D2 Nonsynonymous SNV H175Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.7 262000 chr17 33591895 33591895 A - rs370253825 SLFN5 N612Tfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 262001 chr6 27279926 27279926 C G rs1049417142 POM121L2 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.916 262002 chr11 67269821 67269821 C T rs779121237 PITPNM1 Synonymous SNV G119G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 262003 chr11 67410228 67410228 G A rs149837610 ACY3 Synonymous SNV P309P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.965 262004 chr11 67848904 67848904 T C rs769821250 CHKA Synonymous SNV G161G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.648 262005 chr17 39525844 39525844 A G KRT33B Synonymous SNV N53N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.778 262006 chr5 94956604 94956604 C T rs747213101 GPR150 Nonsynonymous SNV R209C 0 0 0 1 0 0 0.003 0 0 0 0 0 26 262007 chr17 37881349 37881349 C T rs140231769 ERBB2 Synonymous SNV A847A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 262008 chr5 95759134 95759134 G C PCSK1 Synonymous SNV P142P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 6.995 262009 chr17 39092829 39092829 C G KRT23 Nonsynonymous SNV Q9H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 262010 chr3 193028507 193028507 C G ATP13A5 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 262011 chr16 90106722 90106722 G T rs748064530 GAS8 Synonymous SNV R150R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.19 262012 chr11 75141415 75141423 ACTGGCACC - rs974416864 KLHL35 V85_V87del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 262013 chr6 42231160 42231160 C T rs748386453 TRERF1 Synonymous SNV P594P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.29 262014 chr3 27763177 27763177 G A rs561570432 EOMES Synonymous SNV P203P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 262015 chr3 37034021 37034021 G A rs190305737 EPM2AIP1 Nonsynonymous SNV A183V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 262016 chr17 40714694 40714694 A T rs375859066 COASY Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 262017 chr16 1258188 1258188 C T rs761381340 CACNA1H Synonymous SNV S1110S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.44 262018 chr16 1395099 1395099 C T rs368265440 BAIAP3 Nonsynonymous SNV R611W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 262019 chr16 1435270 1435270 G C UNKL Synonymous SNV P401P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.891 262020 chr5 140764507 140764507 T A rs781038163 PCDHGA7 Nonsynonymous SNV S681T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.002 262021 chr5 140764508 140764508 C A rs748067928 PCDHGA7 Nonsynonymous SNV S681Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.19 262022 chr16 1488127 1488127 T C CCDC154 Nonsynonymous SNV Y359C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.486 262023 chr17 46628560 46628560 G C rs367766698 HOXB-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 262024 chr12 102043084 102043084 C T MYBPC1 Stop gain R364X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 262025 chr12 102179951 102179951 G T GNPTAB Nonsynonymous SNV P137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 262026 chr3 47453113 47453113 C T rs150033678 PTPN23 Synonymous SNV L1149L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.805 262027 chr3 47458953 47458953 C T rs756171828 SCAP Synonymous SNV S681S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 262028 chr3 47462431 47462431 C T SCAP Nonsynonymous SNV R190H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 262029 chr3 49568328 49568328 G A rs143829263 DAG1 Synonymous SNV V128V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.467 262030 chr3 49845252 49845252 G A rs61760190 UBA7 Nonsynonymous SNV R878C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.9 262031 chr16 2011233 2011233 G T rs147356577 NDUFB10 Nonsynonymous SNV E70D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 262032 chr3 52283774 52283774 G A rs78402482 PPM1M Nonsynonymous SNV V230I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.33 262033 chr3 52526279 52526279 C T rs61737697 NISCH Synonymous SNV L1432L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.997 262034 chr17 53124462 53124462 G A STXBP4 Nonsynonymous SNV E320K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 262035 chr3 54952727 54952727 C T rs11541701 LRTM1 Nonsynonymous SNV R190Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.745 262036 chr17 37070664 37070664 C T rs147575335 LASP1 Synonymous SNV D92D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 262037 chr3 56950344 56950344 C G rs1051740044 ARHGEF3 Nonsynonymous SNV R15P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.577 262038 chr12 113398907 113398907 C T rs377049304 OAS3 Synonymous SNV P563P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.46 262039 chr17 5984155 5984155 C T rs201993456 WSCD1 Synonymous SNV A59A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 262040 chr17 57937752 57937752 G A rs376202678 TUBD1 Synonymous SNV I215I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 262041 chr3 69928398 69928398 G A rs765235347 MITF Nonsynonymous SNV R21H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 262042 chr3 81586199 81586199 T A rs937683680 GBE1 Nonsynonymous SNV N556Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 262043 chr12 120580489 120580489 C T rs201630121 GCN1 Nonsynonymous SNV R1884Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 262044 chr17 600704 600704 C T rs186014788 VPS53 Nonsynonymous SNV R80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 262045 chr12 121613195 121613195 G A rs199645159 P2RX7 Nonsynonymous SNV A296T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 262046 chr17 74040027 74040027 A G rs779004148 SRP68 Synonymous SNV I130I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 262047 chr4 100234995 100234995 C T rs74451421 ADH1B Nonsynonymous SNV G271S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 262048 chr16 3283601 3283601 G T rs774395669 ZNF200 Nonsynonymous SNV T52N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 262049 chr4 110745583 110745583 A G rs369390479 GAR1 Nonsynonymous SNV H217R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.425 262050 chr6 151281491 151281491 G C rs368127056 MTHFD1L Synonymous SNV R629R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.251 262051 chr6 1390303 1390303 G T rs778501522 FOXF2 Nonsynonymous SNV A41S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.388 262052 chr6 151671399 151671399 C T rs181623815 AKAP12 Nonsynonymous SNV R520W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 262053 chr17 39959215 39959215 G A P3H4 Synonymous SNV L436L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.902 262054 chr17 7760565 7760565 C A rs773464153 NAA38 Synonymous SNV G59G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 262055 chr17 40823085 40823085 C G rs201709134 PLEKHH3 Nonsynonymous SNV E450Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 262056 chr4 120221592 120221592 C T rs796260523 C4orf3 Synonymous SNV Q33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 262057 chr16 5083431 5083431 C T NAGPA Nonsynonymous SNV A129T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.646 262058 chr12 132599066 132599066 A G rs949747487 EP400P1 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 262059 chr4 123130478 123130478 C T rs373929838 KIAA1109 Synonymous SNV N639N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 262060 chr17 78188017 78188017 C G rs104894643 SGSH Nonsynonymous SNV R206P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely pathogenic 25.1 262061 chr17 73723749 73723749 C T rs146609350 ITGB4 Synonymous SNV T94T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.032 262062 chr17 78321696 78321696 C T rs138210678 RNF213 Synonymous SNV I3187I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.73 262063 chr17 73729649 73729649 G A rs148312483 ITGB4 Synonymous SNV P511P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.475 262064 chr4 138453055 138453055 G A rs533008854 PCDH18 Nonsynonymous SNV T63I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.541 262065 chr17 79205666 79205666 G C rs775282768 TEPSIN Nonsynonymous SNV P228A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.778 262066 chr17 7366029 7366029 C T rs375607129 ZBTB4 Nonsynonymous SNV G758R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 262067 chr6 19838395 19838395 G A ID4 Nonsynonymous SNV R137Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29 262068 chr17 79663961 79663961 C T rs182706220 HGS Synonymous SNV H605H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.353 262069 chr4 151207094 151207094 C T rs761576239 LRBA Nonsynonymous SNV G2703S 0 0 0.003 0 0 0 0 1 0 0 0 0 35 262070 chr4 154544192 154544192 G A rs144965083 TMEM131L Synonymous SNV G1334G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.489 262071 chr4 154954 154958 AAGAT - rs148488046 ZNF718 R164Yfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 262072 chr17 7486570 7486570 C T rs780430039 LOC100996842 Stop gain W18X 0.001 0 0 0 1 0 0 0 0 0 0 0 8.951 262073 chr17 80559304 80559304 G C FOXK2 Nonsynonymous SNV E638Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.2 262074 chr17 76120211 76120211 G A rs151028330 TMC6 Nonsynonymous SNV T314M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.8 262075 chr4 160235805 160235805 C T rs774392803 RAPGEF2 Synonymous SNV S85S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 262076 chr17 56573136 56573136 C T rs370288804 MTMR4 Synonymous SNV T789T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 262077 chr12 48393781 48393781 G A rs112469769 COL2A1 Synonymous SNV D71D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.76 262078 chr17 78320951 78320951 A G rs764290638 RNF213 Nonsynonymous SNV Y2939C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 262079 chr4 187630753 187630753 C T rs377496399 FAT1 Nonsynonymous SNV G77R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 262080 chr6 41773976 41773976 G C rs199768863 USP49 Nonsynonymous SNV A249G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 262081 chr4 2240508 2240508 T C HAUS3 Nonsynonymous SNV Y391C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 262082 chr17 81043076 81043076 G A METRNL Nonsynonymous SNV G145S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.741 262083 chr4 25865086 25865086 G T rs766417716 SEL1L3 Synonymous SNV R17R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 262084 chr17 80923600 80923600 G A rs769145172 B3GNTL1 Nonsynonymous SNV T176M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 262085 chr12 52215864 52215864 G A rs538261719 FIGNL2 Nonsynonymous SNV H112Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 262086 chr17 8169570 8169570 G T rs199830566 PFAS Nonsynonymous SNV G907V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 262087 chr6 44222852 44222852 - TCT SLC35B2 K163_M164insK 0 0 0 1 0 0 0.003 0 0 0 0 0 262088 chr12 52788791 52788791 C G KRT82 Nonsynonymous SNV A504P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.351 262089 chr18 29866994 29866994 G A rs140074869 GAREM1 Synonymous SNV A522A 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.22 262090 chr19 17559008 17559008 G A TMEM221 Synonymous SNV L88L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 262091 chr6 71571586 71571586 T A B3GAT2 Stop gain K278X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 262092 chr17 73910346 73910346 G A rs199551553 FBF1 Nonsynonymous SNV L950F 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 262093 chr4 7056633 7056633 T C rs768726063 TADA2B Nonsynonymous SNV V372A 0 0 0.003 0 0 0 0 1 0 0 0 0 21 262094 chr17 74388093 74388093 G C rs78411046 UBE2O Synonymous SNV P1016P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.209 262095 chr4 71508261 71508261 G A rs143134915 ENAM Nonsynonymous SNV R155H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.553 262096 chr19 19605126 19605126 C T rs142000821 GATAD2A Synonymous SNV T186T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 262097 chr19 19646432 19646432 C T rs373913999 YJEFN3 Nonsynonymous SNV A163V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 262098 chr6 96053967 96053967 G A MANEA Nonsynonymous SNV G359R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 262099 chr12 62949881 62949881 C T rs76996863 MON2 Synonymous SNV T1106T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.92 262100 chr17 76533549 76533549 G C DNAH17 Synonymous SNV P897P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.105 262101 chr19 23316917 23316917 C T ZNF730 Synonymous SNV F13F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.097 262102 chr12 64724746 64724746 G A C12orf56 Nonsynonymous SNV P161L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 262103 chr12 7047949 7047949 C G rs146691350 ATN1 Nonsynonymous SNV D941E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 2.088 262104 chr17 79937073 79937073 C T ASPSCR1 Nonsynonymous SNV T39M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 262105 chr19 37211441 37211441 T G ZNF567 Nonsynonymous SNV I574M 0 0 0 2 0 0 0.005 0 0 0 0 0 20.5 262106 chr5 1216707 1216707 A G rs773841943 SLC6A19 Nonsynonymous SNV I308V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 262107 chr6 151152743 151152743 C T rs377576260 PLEKHG1 Synonymous SNV S793S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.26 262108 chr19 16617533 16617533 C T rs201618251 C19orf44 Nonsynonymous SNV S366L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 262109 chr19 39997728 39997728 C T rs367573123 DLL3 Synonymous SNV A381A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 18.31 262110 chr5 134871096 134871096 G A rs749790843 NEUROG1 Synonymous SNV V95V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.927 262111 chr19 12253501 12253501 - C ZNF625-ZNF20 0.001 0 0 0 1 0 0 0 0 0 0 0 262112 chr5 135549206 135549206 C T rs201400042 TRPC7 Nonsynonymous SNV D720N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 262113 chr19 12856238 12856238 C T rs775762080 GET3 Synonymous SNV F119F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 262114 chr5 1363946 1363946 G C rs60211446 LINC01511 0 0 0.003 0 0 0 0 1 0 0 0 0 2.872 262115 chr5 137144227 137144227 A G NPY6R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.322 262116 chr5 137518987 137518987 G A rs202175686 KIF20A Nonsynonymous SNV S321N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.433 262117 chr18 29078229 29078229 G C rs772663614 DSG2 Synonymous SNV P5P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.29 262118 chr5 138266564 138266564 C G rs199723374 CTNNA1 Synonymous SNV A263A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.92 262119 chr5 138629700 138629700 C T rs995345187 MATR3 Nonsynonymous SNV P11S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.27 262120 chr19 44117034 44117034 A G rs532462200 SRRM5 Nonsynonymous SNV E254G 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 262121 chr19 11332625 11332625 C T rs762209501 DOCK6 Nonsynonymous SNV R1151H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 30 262122 chr5 140794792 140794792 T C rs189700811 PCDHGA10 Nonsynonymous SNV S684P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.005 262123 chr5 140807089 140807089 T C rs143939286 PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 262124 chr19 12867038 12867038 C A rs776535761 BEST2 Synonymous SNV R344R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 262125 chr19 12911760 12911760 G C PRDX2 Nonsynonymous SNV S76W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 262126 chr13 23906719 23906719 C T rs200930332 SACS Nonsynonymous SNV V3619I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 262127 chr13 28008980 28008980 - G rs759239865 GTF3A Frameshift insertion K229Qfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 262128 chr13 31513837 31513837 A G rs778576661 TEX26 Nonsynonymous SNV D23G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 262129 chr5 149512495 149512495 G A rs56069016 PDGFRB Synonymous SNV Y251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.861 262130 chr19 15636320 15636320 G T rs201919272 CYP4F22 Nonsynonymous SNV C58F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 262131 chr19 15648191 15648191 T C rs150739429 CYP4F22 Synonymous SNV D129D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.346 262132 chr13 39600518 39600518 T C PROSER1 Nonsynonymous SNV K104E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 262133 chr5 154202036 154202036 T A rs199868107 FAXDC2 Nonsynonymous SNV H225L 0 0 0.007 0 0 0 0 2 0 0 0 0 26.5 262134 chr19 17056395 17056395 G A rs371123578 CPAMD8 Synonymous SNV I919I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.057 262135 chr19 19121068 19121068 C T rs368974564 SUGP2 Nonsynonymous SNV R645Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.483 262136 chr5 171710619 171710619 C A rs199521466 UBTD2 Nonsynonymous SNV E17D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 262137 chr5 171777525 171777525 G A rs141428218 SH3PXD2B Nonsynonymous SNV P285L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 262138 chr17 4799069 4799069 G A rs376984470 MINK1 Synonymous SNV E1065E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.28 262139 chr19 2236226 2236226 G A rs771849782 PLEKHJ1 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 262140 chr19 2853787 2853787 G A rs370928954 ZNF555 Nonsynonymous SNV C574Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 262141 chr19 19371644 19371644 G A HAPLN4 Synonymous SNV G154G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 262142 chr17 56620028 56620028 G T SEPTIN4 Nonsynonymous SNV T507N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 262143 chr19 35512870 35512870 G A rs555755876 GRAMD1A Nonsynonymous SNV R583H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 262144 chr5 33576444 33576444 G A rs555561274 ADAMTS12 Synonymous SNV S1144S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.236 262145 chr19 12223966 12223966 G A rs546621372 ZNF788P Nonsynonymous SNV R535H 0 0 0 2 0 0 0.005 0 0 0 0 0 19.13 262146 chr19 13246351 13246351 G A NACC1 Synonymous SNV Q110Q 0 0 0 2 0 0 0.005 0 0 0 0 0 7.04 262147 chr5 38967507 38967507 A G rs761011163 RICTOR Synonymous SNV S361S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 262148 chr17 644738 644738 C A rs202007550 TLCD3A Synonymous SNV I202I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 262149 chr19 33372826 33372826 G A rs370350519 CEP89 Nonsynonymous SNV R687W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 262150 chr5 41313781 41313781 C T PLCXD3 Nonsynonymous SNV D302N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 262151 chr5 42718823 42718823 A C rs766704808 GHR Nonsynonymous SNV H383P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 262152 chr19 375693 375693 T G rs761875041 THEG Nonsynonymous SNV K93T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 262153 chr5 56111565 56111565 G A rs189140884 MAP3K1 Synonymous SNV A55A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.16 262154 chr19 38385155 38385155 T C rs774110731 WDR87 Synonymous SNV T396T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 262155 chr5 68471363 68471363 G A CCNB1 Stop gain W308X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 262156 chr19 39055860 39055860 C T rs995399684 RYR1 Nonsynonymous SNV R4291W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.88 262157 chr5 70763227 70763227 G A rs906822156 BDP1 Nonsynonymous SNV E278K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 262158 chr5 70900201 70900201 A G rs150276099 MCCC2 Nonsynonymous SNV Y177C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 262159 chr5 71490626 71490626 G C MAP1B Nonsynonymous SNV E356Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 262160 chr19 3852590 3852590 G A ZFR2 Nonsynonymous SNV P26S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.714 262161 chr19 39306592 39306592 C A ECH1 Stop gain E263X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 262162 chr5 80548540 80548542 ACA - rs769555872 CKMT2 N62del 0 0 0.003 0 0 0 0 1 0 0 0 0 262163 chr19 40364327 40364327 C T FCGBP Nonsynonymous SNV G4772D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 262164 chr19 4216895 4216909 GAGGCCACGGGAGCC - rs777552770 ANKRD24 E590_A594del 0.001 0 0 0 1 0 0 0 0 0 0 0 262165 chr14 51237254 51237254 C T rs61744007 NIN Nonsynonymous SNV R429Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 262166 chr19 4233152 4233152 G C EBI3 Nonsynonymous SNV S76T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.815 262167 chr6 109774960 109774960 C T rs144411949 MICAL1 Nonsynonymous SNV R116H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 262168 chr7 100680997 100680997 A T MUC17 Synonymous SNV G2100G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 262169 chr7 100683129 100683129 C G rs746875536 MUC17 Nonsynonymous SNV P2811R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.818 262170 chr19 33701747 33701747 G A rs191645758 SLC7A10 Synonymous SNV H358H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.59 262171 chr19 50308751 50308751 G A AP2A1 Nonsynonymous SNV G796S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 262172 chr19 50363546 50363546 C T rs552306813 PTOV1 Synonymous SNV P365P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.728 262173 chr8 103572822 103572822 G A rs150451104 ODF1 Nonsynonymous SNV E155K 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 262174 chr6 129618966 129618966 G A rs144946631 LAMA2 Nonsynonymous SNV R998H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.6 262175 chr17 80050420 80050420 C T rs199604315 FASN Nonsynonymous SNV A314T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.626 262176 chr19 5905091 5905091 C T rs765073486 VMAC Nonsynonymous SNV R64C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 38 262177 chr19 5914479 5914479 C T rs781604890 CAPS Nonsynonymous SNV S21L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.6 262178 chr19 47258942 47258942 G A rs104894683 FKRP Nonsynonymous SNV V79M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.46 262179 chr19 47280551 47280551 G A rs146470493 SLC1A5 Synonymous SNV A188A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 262180 chr19 47281963 47281963 G A SLC1A5 Nonsynonymous SNV P141S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 262181 chr8 110476953 110476953 T A rs201002812 PKHD1L1 Nonsynonymous SNV F2631Y 0.002 0 0 0 2 0 0 0 0 0 0 0 17.12 262182 chr6 132929515 132929515 G C rs146774802 TAAR3P 0 0 0.01 0 0 0 0 3 0 0 0 0 9.874 262183 chr17 80403746 80403746 C T rs778192946 CYBC1 Nonsynonymous SNV D84N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 262184 chr19 6427496 6427496 A C rs183437348 SLC25A41 Nonsynonymous SNV L214W 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.1 262185 chr6 135271114 135271114 A G ALDH8A1 Synonymous SNV D26D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.242 262186 chr19 6679493 6679493 G A rs140928439 C3 Nonsynonymous SNV R1491W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 262187 chr19 47861158 47861158 G A rs369014615 DHX34 Synonymous SNV T351T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 262188 chr17 80904845 80904845 G T B3GNTL1 Synonymous SNV G162G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 262189 chr19 7601416 7601416 C - PNPLA6 L133Sfs*27 0.003 0 0 1 4 0 0.003 0 0 0 0 0 262190 chr19 7601417 7601417 T G PNPLA6 Nonsynonymous SNV L133R 0.003 0 0 1 4 0 0.003 0 0 0 0 0 28.6 262191 chr19 48955980 48955980 G A rs200748396 GRWD1 Nonsynonymous SNV A347T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 262192 chr6 150716554 150716554 G C rs889107442 IYD Nonsynonymous SNV E238Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.961 262193 chr18 13826497 13826497 G A rs145959981 MC5R Nonsynonymous SNV G245S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.1 262194 chr6 168462556 168462556 C T rs186693438 FRMD1 Nonsynonymous SNV A258T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.439 262195 chr18 44656675 44656675 G A rs143862755 HDHD2 Nonsynonymous SNV A22V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 262196 chr15 101567912 101567912 G A rs56003881 LRRK1 Nonsynonymous SNV D866N 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.89 262197 chr19 52447769 52447778 GGCTTTCCTC - ZNF613 A212Rfs*229 0.001 0 0 0 1 0 0 0 0 0 0 0 262198 chr15 31359348 31359348 G A rs138886378 TRPM1 Nonsynonymous SNV S196F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 262199 chr15 40545005 40545005 C A C15orf56 Nonsynonymous SNV A29S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 262200 chr6 36334524 36334524 C T rs758926880 ETV7 Synonymous SNV P157P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 262201 chr8 17166821 17166821 C G rs777364738 MTMR7 Nonsynonymous SNV K372N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 262202 chr6 36938448 36938448 C T rs144365701 MTCH1 Nonsynonymous SNV R310Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 262203 chr8 17851085 17851085 G A rs368500123 PCM1 Nonsynonymous SNV R1532Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 262204 chr19 54483170 54483170 G C CACNG8 Synonymous SNV L139L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 262205 chr6 47575700 47575702 AAG - rs545551160 CD2AP E525del 0 0 0.007 0 0 0 0 2 0 0 0 0 262206 chr19 11332621 11332621 G A rs761619087 DOCK6 Synonymous SNV Y1152Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.302 262207 chr6 491150 491150 C A rs146362030 EXOC2 Nonsynonymous SNV A866S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 262208 chr19 8651499 8651499 T G ADAMTS10 Synonymous SNV P269P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.518 262209 chr19 11597938 11597938 T C rs202004000 ZNF653 Nonsynonymous SNV K403E 0.001 0 0 0 1 0 0 0 0 0 0 0 14 262210 chr9 100616706 100616706 C A rs371516340 FOXE1 Synonymous SNV A170A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 262211 chr19 14037518 14037518 G A rs777633314 CC2D1A Nonsynonymous SNV D685N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 262212 chr6 57046916 57046916 A G BAG2 Nonsynonymous SNV Q67R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.82 262213 chr8 51465649 51465649 C T SNTG1 Synonymous SNV C240C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.019 262214 chr19 15164591 15164591 G C rs61731992 CASP14 Synonymous SNV R75R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.143 262215 chr8 62475352 62475352 C A ASPH Nonsynonymous SNV G434V 0 0 0 1 0 0 0.003 0 0 0 0 0 32 262216 chr19 9056366 9056366 T C MUC16 Synonymous SNV R10360R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.056 262217 chr19 15760771 15760771 G A rs776323965 CYP4F3 Synonymous SNV V232V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.038 262218 chr19 15760772 15760772 A T rs759544232 CYP4F3 Nonsynonymous SNV T233S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 262219 chr1 153276449 153276449 T C rs41264632 PGLYRP3 Nonsynonymous SNV E138G 0.002 0 0.007 3 2 0 0.008 2 0 0 0 0 23.1 262220 chr1 153279598 153279598 C T rs79540951 PGLYRP3 Synonymous SNV L67L 0.001 0 0.007 3 1 0 0.008 2 0 0 0 0 9.237 262221 chr6 83848361 83848361 T C DOP1A Nonsynonymous SNV S1525P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 262222 chr19 17367327 17367327 G C rs35980215 USHBP1 Nonsynonymous SNV P411A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 262223 chr19 17367376 17367376 T C rs35239299 USHBP1 Synonymous SNV A394A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.395 262224 chr6 87969408 87969408 C T ZNF292 Nonsynonymous SNV P2021S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.618 262225 chr1 156449441 156449441 G T rs913271454 MEF2D Nonsynonymous SNV Q182K 0 0 0.003 3 0 0 0.008 1 0 0 0 0 23.9 262226 chr8 100146946 100146946 T G rs77759532 VPS13B Synonymous SNV T431T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.207 262227 chr8 101196929 101196929 A G rs35592493 SPAG1 Synonymous SNV G223G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.137 262228 chr6 90642327 90642327 G T rs200671083 BACH2 Nonsynonymous SNV P776T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.064 262229 chr1 156642306 156642306 C T rs898315790 NES Synonymous SNV K558K 0 0 0 3 0 0 0.008 0 0 0 0 0 10.64 262230 chr9 123298751 123298751 C T rs756635555 CDK5RAP2 Synonymous SNV T187T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.49 262231 chr19 19751345 19751345 C G rs756172978 GMIP Nonsynonymous SNV G92R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 262232 chr7 100550463 100550463 T A rs777284610 MUC3A Synonymous SNV T348T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.98 262233 chr7 100550529 100550529 C T rs796821477 MUC3A Synonymous SNV T370T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.337 262234 chr1 1132942 1132942 G A rs566976676 TTLL10 Synonymous SNV S579S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.392 262235 chr19 9523980 9523983 TTCT - ZNF266 R540Gfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 262236 chr15 91020451 91020451 A G IQGAP1 Synonymous SNV Q1031Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.044 262237 chr19 2422228 2422228 C T rs745595748 TMPRSS9 Nonsynonymous SNV T810I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.096 262238 chr19 9922084 9922084 C T rs61753275 FBXL12 Nonsynonymous SNV V124M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 262239 chr8 141572659 141572659 G A rs530887576 AGO2 Synonymous SNV C137C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.89 262240 chr7 102616592 102616592 C T rs181631726 NFE4 Nonsynonymous SNV P157L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.177 262241 chr7 121513577 121513577 C T rs140414935 PTPRZ1 Synonymous SNV L8L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 262242 chr16 1412235 1412235 G A rs374890181 GNPTG Nonsynonymous SNV R147Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.53 262243 chr7 127026170 127026170 T G rs753256723 ZNF800 Nonsynonymous SNV Q34P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 262244 chr7 134819685 134819685 T G rs892280382 AGBL3 Stop gain Y108X 0 0 0.003 0 0 0 0 1 0 0 0 0 9.99 262245 chr1 154544414 154544414 G T CHRNB2 Nonsynonymous SNV G372V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 262246 chr8 145732328 145732328 T G rs755524000 GPT Nonsynonymous SNV L479R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.96 262247 chr1 1233230 1233230 C T rs538059849 ACAP3 Nonsynonymous SNV R367H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 262248 chr7 138793947 138793947 G A ZC3HAV1 Nonsynonymous SNV A44V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 262249 chr16 21261401 21261401 A T rs937294705 ANKS4B Nonsynonymous SNV T172S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.063 262250 chr1 144916630 144916630 T - PDE4DIP E738Dfs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 262251 chr19 3964828 3964828 T C rs747200424 DAPK3 Nonsynonymous SNV N75S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 262252 chr1 155851185 155851185 G C rs558521207 SYT11 Synonymous SNV G394G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.397 262253 chr16 2260234 2260234 G A BRICD5 Nonsynonymous SNV R77W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 262254 chr1 184863214 184863214 - A NIBAN1 Stop gain K105* 0.002 0 0 1 2 0 0.003 0 0 0 0 0 262255 chr1 147095956 147095956 T C BCL9 Synonymous SNV S1159S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 262256 chr16 23700977 23700977 G A rs140033760 PLK1 Nonsynonymous SNV V530M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 262257 chr9 13190278 13190278 C A rs370785235 MPDZ Nonsynonymous SNV E663D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.24 262258 chr10 3189553 3189553 C T rs935349784 PITRM1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.34 262259 chr7 144077006 144077006 G A rs182264437 ARHGEF5 Nonsynonymous SNV V1551M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 262260 chr9 18753452 18753452 A G rs111979267 ADAMTSL1 Synonymous SNV Q721Q 0.001 0.003 0.007 2 1 1 0.005 2 0 0 0 0 Benign 3.573 262261 chr9 18928321 18928321 T C rs34119945 SAXO1 Nonsynonymous SNV N320S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 262262 chr10 5567055 5567055 G A rs779502462 CALML3 Nonsynonymous SNV D3N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.692 262263 chr19 871248 871248 C A MED16 Nonsynonymous SNV D702Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 262264 chr7 149518595 149518595 C T rs764764639 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 262265 chr7 150069764 150069764 G C REPIN1 Synonymous SNV R478R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.111 262266 chr9 34254457 34254457 T C rs768316353 KIF24 Nonsynonymous SNV Q1343R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 262267 chr9 34660526 34660526 A G IL11RA Synonymous SNV V366V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.293 262268 chr16 31335779 31335779 C T rs745856396 ITGAM Nonsynonymous SNV R688C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 262269 chr9 35825799 35825799 A G rs751089441 FAM221B Synonymous SNV S120S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.154 262270 chr9 35906607 35906607 G C rs201684694 HRCT1 Nonsynonymous SNV R108P 0 0.005 0 2 0 2 0.005 0 0 1 0 1 9.252 262271 chr1 154960937 154960937 C T rs61736264 FLAD1 Synonymous SNV F243F 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign/Likely benign 14.07 262272 chr9 36234056 36234056 G A rs138694766 GNE Synonymous SNV H171H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.15 262273 chr10 22048324 22048324 C T rs755689984 DNAJC1 Synonymous SNV P457P 0.003 0.005 0 1 4 2 0.003 0 0 0 0 0 11.36 262274 chr1 153927585 153927585 G A CRTC2 Synonymous SNV L71L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.536 262275 chr7 1937853 1937853 C G rs781515825 MAD1L1 Nonsynonymous SNV D117H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 262276 chr7 21737824 21737824 C T rs765090393 DNAH11 Nonsynonymous SNV S2058F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 262277 chr19 9087485 9087485 C A rs780050561 MUC16 Nonsynonymous SNV V1444F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.171 262278 chr16 55536779 55536779 G A rs41459945 MMP2 Nonsynonymous SNV V570I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.28 262279 chr16 55880681 55880681 C T rs16955812 CES5A Nonsynonymous SNV G449R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 262280 chr16 56487188 56487188 G A rs147184380 OGFOD1 Star tloss M55I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 262281 chr9 95482594 95482594 C T rs368860496 BICD2 Synonymous SNV Q350Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.52 262282 chr19 48495314 48495314 C T rs200311935 BSPH1 Nonsynonymous SNV V9M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 262283 chr9 98734384 98734384 C T ERCC6L2 Nonsynonymous SNV S795F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.103 262284 chr1 160254869 160254869 T C PEX19 Nonsynonymous SNV R16G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 262285 chr9 101017649 101017649 C T TBC1D2 Nonsynonymous SNV G59R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 262286 chr1 158747373 158747373 G A rs200003269 OR6N2 Nonsynonymous SNV A18V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 262287 chr1 161697361 161697361 C A rs35358752 FCRLB Nonsynonymous SNV A397D 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 262288 chr1 16044461 16044461 G T rs959070620 PLEKHM2 Synonymous SNV L117L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 262289 chr1 113241076 113241076 C T rs760100089 MOV10 Synonymous SNV G828G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.96 262290 chr1 16065125 16065125 G A rs922026817 SLC25A34 Nonsynonymous SNV G212R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 262291 chr1 165177336 165177336 G T LMX1A Nonsynonymous SNV Q261K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 262292 chr1 114249231 114249231 G A PHTF1 Synonymous SNV G175G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.62 262293 chr1 166819109 166819109 G A POGK Nonsynonymous SNV M313I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 262294 chr19 50979474 50979474 A C rs563920418 FAM71E1 Nonsynonymous SNV S58A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 262295 chr19 51323587 51323587 C T rs768627267 KLK1 Nonsynonymous SNV E107K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 262296 chr1 186269242 186269242 G A rs1021939143 PRG4 Synonymous SNV G32G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.955 262297 chr16 75146331 75146331 C T rs368849678 LDHD Nonsynonymous SNV V483M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 262298 chr16 81075940 81075940 T A ATMIN Nonsynonymous SNV S17T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 262299 chr1 1961436 1961436 C T rs75511732 GABRD Synonymous SNV N358N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 262300 chr7 87092143 87092143 G C rs8187788 ABCB4 Nonsynonymous SNV L73V 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 5.216 262301 chr19 5238945 5238945 G A rs745665862 PTPRS Nonsynonymous SNV R599C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 262302 chr19 52869785 52869785 C T rs780673696 ZNF610 Nonsynonymous SNV P342L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 262303 chr7 92120651 92120651 T A rs142994610 PEX1 Nonsynonymous SNV M1068L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 262304 chr1 202318025 202318025 C G PPP1R12B Nonsynonymous SNV R16G 0 0.003 0 0 0 1 0 0 0 0 0 0 34 262305 chr8 116599713 116599713 C T TRPS1 Nonsynonymous SNV G730S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 262306 chr8 120754819 120754819 T G rs200397588 TAF2 Nonsynonymous SNV T1098P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.295 262307 chr8 124232422 124232422 T A rs138697305 C8orf76 Nonsynonymous SNV D355V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 262308 chr1 200880633 200880633 C T rs772051495 INAVA Nonsynonymous SNV R338C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 262309 chr9 136341407 136341407 T C rs147872568 SLC2A6 Nonsynonymous SNV T172A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 262310 chr1 212459623 212459623 C T rs351403 PPP2R5A Synonymous SNV P57P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 262311 chr9 138707777 138707777 G A rs763117472 CAMSAP1 Nonsynonymous SNV A1449V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 262312 chr1 201869656 201869656 C T rs371494877 LMOD1 Nonsynonymous SNV R162Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 262313 chr1 248366831 248366831 G A rs139450361 OR2M3 Synonymous SNV T154T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.543 262314 chr1 205350876 205350876 G C LEMD1 Nonsynonymous SNV S64C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.334 262315 chr1 205495284 205495284 C T rs753307031 CDK18 Nonsynonymous SNV A183V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 262316 chr1 223933136 223933136 C T rs146165743 CAPN2 Synonymous SNV Y107Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 262317 chr10 3109849 3109849 C G rs574712958 PFKP Nonsynonymous SNV S21C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 262318 chr8 144999175 144999175 G A PLEC Nonsynonymous SNV A1627V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.3 262319 chr8 145101672 145101672 G A rs782114300 SPATC1 Nonsynonymous SNV A531T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 262320 chr1 173840001 173840001 G A rs751501901 ZBTB37 Nonsynonymous SNV R213Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 262321 chr1 224592132 224592132 T C rs372528289 WDR26 Synonymous SNV Q417Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 262322 chr19 7132181 7132181 C T rs753371466 INSR Nonsynonymous SNV V932M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.69 262323 chr19 740467 740467 C A rs771290316 PALM Stop gain Y206X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 40 262324 chr10 13230995 13230995 C T rs116465689 MCM10 Nonsynonymous SNV R444C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 262325 chr1 177906417 177906417 C T rs375889654 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV S471N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.133 262326 chr10 13699265 13699265 G A rs373437653 FRMD4A Nonsynonymous SNV S466L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 262327 chr19 8586466 8586466 G C rs759811979 MYO1F Synonymous SNV G1077G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.063 262328 chr1 228400605 228400605 G C OBSCN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.41 262329 chr1 228404891 228404891 G A rs755713418 OBSCN Nonsynonymous SNV R852Q 0.002 0 0 0 2 0 0 0 0 0 0 0 7.53 262330 chr1 45250847 45250847 C T BEST4 Nonsynonymous SNV G282E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.91 262331 chr1 233463981 233463981 G A MAP3K21 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 262332 chr1 243449695 243449695 C T rs372403021 SDCCAG8 Nonsynonymous SNV A181V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.59 262333 chr1 186141163 186141163 A T rs746004773 HMCN1 Synonymous SNV V5238V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.392 262334 chr10 32742299 32742299 G C rs145143728 CCDC7 Nonsynonymous SNV G103R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 262335 chr8 37604881 37604881 C G LOC728024 0 0 0.007 0 0 0 0 2 0 0 0 0 14.72 262336 chr8 37604882 37604882 C G LOC728024 0 0 0.01 0 0 0 0 3 0 0 0 0 14.09 262337 chr19 9068577 9068577 G A rs201749237 MUC16 Nonsynonymous SNV T6290I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.013 262338 chr1 22919869 22919869 G A rs374046323 EPHA8 Nonsynonymous SNV V456I 0.003 0 0 0 3 0 0 0 0 0 0 0 17.84 262339 chr1 237947857 237947857 C T rs754921908 RYR2 Nonsynonymous SNV A4282V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 262340 chr1 23346329 23346329 C T rs770094248 KDM1A Synonymous SNV S80S 0.003 0 0 0 3 0 0 0 0 0 0 0 19.42 262341 chr1 233463878 233463878 C T rs772019799 MAP3K21 Nonsynonymous SNV S35L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 262342 chr1 248059039 248059039 C T rs769182829 OR2W3 Synonymous SNV L51L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.281 262343 chr1 24419449 24419449 C T MYOM3 Nonsynonymous SNV V360M 0.003 0 0 0 4 0 0 0 0 0 0 0 28.3 262344 chr10 63999462 63999462 C T RTKN2 Nonsynonymous SNV V145M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.054 262345 chr1 245851376 245851376 G A rs193077490 KIF26B Synonymous SNV A1697A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.203 262346 chr1 110460052 110460052 C T CSF1 Synonymous SNV S121S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 262347 chr1 24782681 24782681 A G rs151040412 NIPAL3 Nonsynonymous SNV I70V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 262348 chr17 41132795 41132795 G A rs28584166 RUNDC1 Nonsynonymous SNV A68T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.245 262349 chr9 104314829 104314829 T C rs377060641 RNF20 Synonymous SNV D565D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.584 262350 chr1 115143484 115143484 C T rs766659862 DENND2C Nonsynonymous SNV R581H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 262351 chr10 73537584 73537584 G T CDH23 Nonsynonymous SNV G1665C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 262352 chr9 113220784 113220784 T A SVEP1 Synonymous SNV G1181G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.422 262353 chr1 27216194 27216194 C T rs148786972 GPN2 Nonsynonymous SNV A132T 0.004 0 0 0 5 0 0 0 0 0 0 0 14.56 262354 chr10 86273547 86273547 A T CCSER2 Nonsynonymous SNV T317S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.86 262355 chr9 116811289 116811289 C T ZNF618 Synonymous SNV Y536Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.976 262356 chr1 32800461 32800461 G A rs755340006 MARCKSL1 Nonsynonymous SNV R109W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 262357 chr1 33059338 33059338 C A rs746561847 ZBTB8A Nonsynonymous SNV T269K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 262358 chr1 3321323 3321323 T C rs745431179 PRDM16 Nonsynonymous SNV I302T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.79 262359 chr1 36039858 36039858 C - TFAP2E A121Pfs*57 0.001 0 0 0 1 0 0 0 0 0 0 0 262360 chr1 150720261 150720261 C A rs140408537 CTSS Synonymous SNV V246V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.51 262361 chr1 32256396 32256396 G A rs147130590 SPOCD1 Synonymous SNV L633L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.063 262362 chr1 151139877 151139877 C T rs144369082 SCNM1, TNFAIP8L2-SCNM1 Nonsynonymous SNV R94C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 262363 chr1 227922813 227922813 G A JMJD4 Synonymous SNV P100P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.84 262364 chr10 101668784 101668786 GAA - DNMBP L425del 0 0 0 1 0 0 0.003 0 0 0 0 0 262365 chr1 153271602 153271602 G A rs141004581 PGLYRP3 Synonymous SNV I278I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 262366 chr1 42628623 42628623 G C GUCA2A Nonsynonymous SNV P101R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 262367 chr1 43672586 43672586 G A rs756958967 CFAP57 Nonsynonymous SNV E580K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 262368 chr9 134073538 134073538 A G NUP214 Nonsynonymous SNV T379A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 262369 chr20 2597815 2597815 G A rs145587686 TMC2 Nonsynonymous SNV V680I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.1 262370 chr10 115537008 115537008 T C rs202183581 PLEKHS1 Nonsynonymous SNV I304T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.96 262371 chr1 44605557 44605557 G A KLF18 Nonsynonymous SNV L583F 0.003 0 0 3 3 0 0.008 0 0 0 0 0 2.343 262372 chr9 136905224 136905224 C T rs151205928 BRD3 Synonymous SNV P525P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 13.07 262373 chr1 55166982 55166982 C T rs371692735 MROH7 Nonsynonymous SNV P609L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 19.06 262374 chr1 160654975 160654975 G A rs147119126 CD48 Synonymous SNV H29H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.593 262375 chr17 72843517 72843517 G A rs770956100 GRIN2C Nonsynonymous SNV T644M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 262376 chr9 15188127 15188127 G C rs765758498 TTC39B Nonsynonymous SNV Q344E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 262377 chr1 247654805 247654805 G A rs566763062 OR2W5 Nonsynonymous SNV V126I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.446 262378 chr1 162569070 162569070 A G rs12091021 UAP1 Nonsynonymous SNV S479G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.21 262379 chr17 73499287 73499287 C T rs200947487 CASKIN2 Nonsynonymous SNV R541Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 18.14 262380 chr9 21141118 21141118 C T rs139690862 IFNW1 Nonsynonymous SNV R151H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.572 262381 chr11 47372154 47372154 G A rs730880610 MYBPC3 Nonsynonymous SNV P102L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Uncertain significance 8.08 262382 chr17 73646735 73646735 C T RECQL5 Synonymous SNV R431R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.738 262383 chr1 248020578 248020578 G C TRIM58 Synonymous SNV L10L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.448 262384 chr17 73892954 73892954 G A TRIM65 Nonsynonymous SNV P22L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 262385 chr1 67205201 67205201 G A rs925351930 SGIP1 Nonsynonymous SNV V542M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 262386 chr1 79403921 79403921 T C ADGRL4 Nonsynonymous SNV Y147C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 262387 chr1 8398033 8398033 C T SLC45A1 Synonymous SNV F585F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 262388 chr17 78091432 78091432 C G rs201485261 GAA Nonsynonymous SNV P789A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.004 262389 chr9 8465580 8465580 G T rs41281787 PTPRD Synonymous SNV P779P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.8 262390 chr9 847069 847069 A T DMRT1 Nonsynonymous SNV N155I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 262391 chr17 78313329 78313329 C T rs189765261 RNF213 Nonsynonymous SNV P1721L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 262392 chr9 90346013 90346013 C T rs140683449 CTSL Synonymous SNV P149P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 262393 chr9 91090168 91090168 C T SPIN1 Synonymous SNV V255V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 262394 chr17 78396031 78396031 T C rs184854277 ENDOV Nonsynonymous SNV V85A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 262395 chr9 93264023 93264023 G A rs41281206 LINC01501 0 0 0.02 0 0 0 0 6 0 0 0 0 4.97 262396 chr1 183617688 183617688 T C rs376258698 APOBEC4 Nonsynonymous SNV S77G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 262397 chr9 95258644 95258644 T C rs760790041 ECM2 Nonsynonymous SNV I663V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 262398 chr17 79097134 79097134 G A rs768744982 AATK Synonymous SNV G221G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 262399 chr1 9074896 9074896 C G rs971466797 SLC2A7 Nonsynonymous SNV M249I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 262400 chr9 96055228 96055228 C T rs754642566 WNK2 Synonymous SNV P1827P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.358 262401 chr9 96291776 96291776 C A rs773559976 FAM120A Nonsynonymous SNV P549T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.54 262402 chr9 97329860 97329860 A G PCAT7 0 0 0.003 0 0 0 0 1 0 0 0 0 1.973 262403 chr17 80043168 80043168 G A FASN Synonymous SNV S1411S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 262404 chr1 9323606 9323606 G A rs199782560 H6PD Nonsynonymous SNV V363M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 262405 chrM 741 741 C T RNR1 0 0 0.014 0 0 0 0 4 0 0 2 0 262406 chr1 1959089 1959089 C G GABRD Nonsynonymous SNV L182V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.72 262407 chr21 30961285 30961285 G A rs780983937 GRIK1 Synonymous SNV D324D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.546 262408 chr11 57137440 57137440 C T rs142475536 P2RX3 Synonymous SNV T388T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 8.887 262409 chr21 32582477 32582477 T C rs770464992 TIAM1 Nonsynonymous SNV I733V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.4 262410 chr21 33694189 33694189 G A rs189193864 URB1 Synonymous SNV Y1802Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.736 262411 chr1 202888984 202888984 G A KLHL12 Nonsynonymous SNV T121I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 262412 chr20 3210004 3210004 G A rs769617527 SLC4A11 Nonsynonymous SNV R575W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.95 262413 chrX 17705980 17705980 C T rs751527423 NHS Synonymous SNV R51R 0 0 0.007 0 0 0 0 2 0 0 1 0 12.03 262414 chrX 18259468 18259468 T C rs746307395 SCML2 Nonsynonymous SNV K669R 0 0 0.007 0 0 0 0 2 0 0 1 0 9.258 262415 chr1 206225180 206225180 G - AVPR1B D248Tfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 262416 chr20 21314765 21314765 T C XRN2 Nonsynonymous SNV I470T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 262417 chrX 40541157 40541157 C T MED14 Nonsynonymous SNV V802I 0 0 0.007 0 0 0 0 2 0 0 1 0 15.58 262418 chrX 41075904 41075904 C T rs146661515 USP9X Synonymous SNV P2028P 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 10.29 262419 chr20 36386004 36386004 T C CTNNBL1 Synonymous SNV D170D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.686 262420 chr11 4880946 4880946 G T rs750559578 OR51H1 Stop gain Y283X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 262421 chr20 239946 239946 A C rs147196160 DEFB132 X96S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 262422 chr20 36766772 36766772 C A TGM2 Nonsynonymous SNV R372M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 262423 chr20 25204781 25204781 G A rs200552433 ENTPD6 Nonsynonymous SNV A159T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 262424 chr11 62291732 62291732 T C AHNAK Nonsynonymous SNV D3386G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 262425 chr20 44333227 44333227 G A rs142436120 WFDC13 Nonsynonymous SNV R78H 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 4.348 262426 chr20 37632539 37632539 A G rs141059905 DHX35 Nonsynonymous SNV S303G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 262427 chrX 73042354 73042354 - A rs760347061 TSIX, XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 262428 chr20 44674983 44674983 C T rs41282784 SLC12A5 Synonymous SNV F588F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 15.03 262429 chr20 4162804 4162804 C T rs539264331 SMOX Synonymous SNV T226T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 262430 chr11 63594445 63594445 G A rs550497038 SPINDOC Nonsynonymous SNV R327H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 262431 chr20 35690646 35690646 C T rs151227043 RBL1 Synonymous SNV E308E 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 14.1 262432 chr20 52199044 52199044 G A rs369417236 ZNF217 Nonsynonymous SNV L108F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 262433 chr11 64494807 64494807 C T rs139115510 RASGRP2 Synonymous SNV T599T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.11 262434 chr20 60883183 60883183 G A rs201200661 ADRM1 Synonymous SNV P282P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.96 262435 chr18 712357 712428 TACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCT - ENOSF1 S54_M76del 0.001 0 0 0 1 0 0 0 0 0 0 0 262436 chr20 50769302 50769302 C T ZFP64 Nonsynonymous SNV V423M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 262437 chr10 115661620 115661620 A G rs372201609 NHLRC2 Synonymous SNV A445A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.385 262438 chr20 57617835 57617835 C T rs773059797 SLMO2-ATP5E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.982 262439 chr10 121607157 121607157 A G rs150506551 MCMBP Synonymous SNV D265D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 7.986 262440 chr22 24629941 24629941 C T rs374962171 GGT5 Nonsynonymous SNV D69N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 262441 chr20 60900593 60900593 G A rs139530736 LAMA5 Nonsynonymous SNV R1770W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 262442 chr10 125514272 125514272 G A rs780477883 CPXM2 Nonsynonymous SNV R642C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 262443 chr1 231175755 231175755 C - FAM89A G68Afs*158 0.001 0 0 0 1 0 0 0 0 0 0 0 262444 chr1 90180106 90180106 C T LRRC8C Synonymous SNV L659L 0 0 0 3 0 0 0.008 0 0 0 0 0 5.687 262445 chr11 75280069 75280069 C T rs773342436 SERPINH1 Synonymous SNV I269I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.85 262446 chr1 9323718 9323718 C T rs759086163 H6PD Nonsynonymous SNV A400V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.665 262447 chr11 76257282 76257282 C T rs892838352 EMSY Nonsynonymous SNV R1240C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 262448 chr19 11353994 11353994 G A rs757786510 DOCK6 Synonymous SNV D442D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 262449 chr11 13441097 13441097 G A rs979546409 BTBD10 Nonsynonymous SNV T117M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.33 262450 chr10 134622104 134622104 G A rs148457914 CFAP46 Nonsynonymous SNV R2657C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.576 262451 chr20 61950435 61950435 C T rs200164977 COL20A1 Nonsynonymous SNV P897S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.45 262452 chr10 134996849 134996849 C T rs201644896 KNDC1 Nonsynonymous SNV A121V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 262453 chr10 20840924 20840924 T C rs146066828 MIR4675 0 0 0.003 0 0 0 0 1 0 0 0 0 0.961 262454 chr10 30657504 30657504 G A rs975198864 GOLGA2P6 0 0 0.003 0 0 0 0 1 0 0 0 0 0.613 262455 chr19 16034831 16034831 G T rs746758825 CYP4F11 Nonsynonymous SNV Q237K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 262456 chr10 3185609 3185609 C T rs200737276 PITRM1 Nonsynonymous SNV V775I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 262457 chr11 46397062 46397062 G A rs777928991 DGKZ Synonymous SNV P574P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.491 262458 chr11 46690060 46690060 G A rs778394445 ATG13 Synonymous SNV T272T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.77 262459 chr21 43519168 43519168 G A rs143302227 UMODL1 Nonsynonymous SNV S355N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.609 262460 chr22 47059978 47059978 C T rs144976533 GRAMD4 Synonymous SNV D253D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 262461 chr10 49939200 49939200 T C WDFY4 Nonsynonymous SNV V392A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.499 262462 chr10 50532695 50532695 T C rs773709764 C10orf71 Nonsynonymous SNV L702P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 262463 chr19 18121397 18121397 G A rs370553992 ARRDC2 Synonymous SNV S338S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.164 262464 chr1 31349976 31349976 C T rs776025850 SDC3 Nonsynonymous SNV R98H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 262465 chr1 32280178 32280178 C T SPOCD1 Nonsynonymous SNV G253R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 262466 chr10 55566507 55566507 C T rs201255786 PCDH15 Synonymous SNV V1620V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.082 262467 chr10 55955493 55955493 T G PCDH15 Nonsynonymous SNV N382H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 262468 chr19 19638863 19638863 C T rs778543754 NDUFA13 Synonymous SNV I121I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 262469 chr1 3647537 3647537 C T rs767248912 TP73 Stop gain R366X 0.001 0 0 0 1 0 0 0 0 0 0 0 9.856 262470 chr1 38040285 38040285 C T rs147384355 GNL2 Nonsynonymous SNV R245Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25 262471 chr1 42630323 42630323 C G rs901572510 GUCA2A Nonsynonymous SNV G21R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 262472 chr10 73051291 73051291 T A rs762336258 UNC5B Nonsynonymous SNV I455N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 262473 chr10 75184893 75184893 G A rs137962387 MSS51 Nonsynonymous SNV R376C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 262474 chr22 17601115 17601115 G T rs552175597 TMEM121B Synonymous SNV G301G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 262475 chr1 46495139 46495139 T C rs55686305 MAST2 Synonymous SNV D740D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 262476 chr22 19119412 19119412 G A TSSK2 Nonsynonymous SNV G167E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 262477 chr10 91597778 91597778 G A rs569480122 LINC00865 0 0 0.003 0 0 0 0 1 0 0 0 0 8.561 262478 chr20 61341020 61341020 C T NTSR1 Nonsynonymous SNV A154V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 262479 chr10 95791063 95791063 A G PLCE1 Nonsynonymous SNV N87S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.15 262480 chr1 54670730 54670730 T C rs774264524 MRPL37 Nonsynonymous SNV I129T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 262481 chr10 96447973 96447973 C T rs151106761 CYP2C18 Synonymous SNV I141I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 262482 chr1 55271811 55271811 G A rs371601615 LEXM Nonsynonymous SNV A8T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 262483 chr22 36537846 36537846 G A APOL3 Nonsynonymous SNV A204V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 262484 chr1 65656428 65656428 A T rs201095991 AK4 Nonsynonymous SNV S9C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 262485 chr1 65897507 65897507 C T LEPROT Nonsynonymous SNV L101F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 262486 chr22 41723248 41723248 G A rs141003523 ZC3H7B Synonymous SNV A108A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.521 262487 chr1 75184954 75184954 A G rs147181596 CRYZ Nonsynonymous SNV F123L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 262488 chr11 10647542 10647542 G A rs567720854 MRVI1 Nonsynonymous SNV R132W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 262489 chr11 64893230 64893230 C T rs202100154 MRPL49 Synonymous SNV S129S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.04 262490 chr2 10051642 10051642 C - TAF1B S124Ffs*29 0 0.003 0 1 0 1 0.003 0 0 0 0 0 262491 chr11 117860318 117860318 G A rs199989396 IL10RA Nonsynonymous SNV R117H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 262492 chr2 192250758 192250758 A G rs199738105 MYO1B Nonsynonymous SNV N501S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.73 262493 chr2 10584242 10584242 G A rs140323723 ODC1 Nonsynonymous SNV A14V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 262494 chr2 105897107 105897107 G A rs751373338 TGFBRAP1 Nonsynonymous SNV R399W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 262495 chr11 124624147 124624147 G C rs202114064 ESAM Nonsynonymous SNV R274G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 262496 chr22 19956254 19956254 C - COMT *222delinsDCPPGPPLGLSHPAWY* 0 0 0 1 0 0 0.003 0 0 0 0 0 262497 chr22 20051074 20051074 G A rs984107158 TANGO2 Synonymous SNV S175S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.559 262498 chr2 10925087 10925087 T G rs908972592 PDIA6 Nonsynonymous SNV R409S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 262499 chr2 100938063 100938063 G A rs377306378 LONRF2 Nonsynonymous SNV R165C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 262500 chr2 101009734 101009734 G A rs138883566 CHST10 Synonymous SNV Y348Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.2 262501 chr11 128842958 128842958 T C ARHGAP32 Nonsynonymous SNV N785S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 262502 chr11 133768690 133768690 C A MIR4697HG 0 0 0.003 0 0 0 0 1 0 0 0 0 7.657 262503 chr2 158177867 158177867 T C ERMN Synonymous SNV R237R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 262504 chr19 49994740 49994740 C A rs150697570 RPL13A Nonsynonymous SNV A93D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 262505 chr2 136396316 136396316 G A rs139991249 R3HDM1 Nonsynonymous SNV D261N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 262506 chr11 108151732 108151732 C G ATM Nonsynonymous SNV A1138G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.2 262507 chr20 31690809 31690809 G A rs758458637 BPIFB4 Nonsynonymous SNV G557S 0.002 0 0 0 2 0 0 0 0 0 0 0 25 262508 chr11 209760 209760 C A rs948552334 RIC8A Nonsynonymous SNV F162L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 262509 chr2 118753898 118753898 C T CCDC93 Nonsynonymous SNV G135D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 262510 chr11 211280 211280 G A rs145464704 RIC8A Synonymous SNV T300T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 262511 chr20 33725703 33725703 G A rs757782647 EDEM2, MMP24-AS1-EDEM2 Nonsynonymous SNV A120V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 262512 chr11 114401219 114401219 A G NXPE1 Nonsynonymous SNV F29L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 262513 chr11 114453264 114453264 C T NXPE4 Stop gain W192X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 262514 chr2 178576505 178576505 G A rs35194777 PDE11A Synonymous SNV F271F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.32 262515 chr11 3242950 3242950 T C rs147350396 MRGPRG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 262516 chr11 118370551 118370551 G T rs142830885 KMT2A Synonymous SNV G2027G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.77 262517 chr2 179401074 179401074 A C rs200166942 TTN Nonsynonymous SNV V24402G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.27 262518 chr2 135908022 135908022 C A rs587780426 RAB3GAP1 Nonsynonymous SNV H669Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 262519 chr2 135985569 135985569 G T rs796691737 ZRANB3 Nonsynonymous SNV S657R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 262520 chr11 33163191 33163191 - AAAAT rs762286775 CSTF3 Frameshift insertion F83Ifs*21 0.001 0 0.003 0 1 0 0 1 0 0 0 0 262521 chr19 52220384 52220384 G A rs747392663 HAS1 Synonymous SNV D254D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.702 262522 chr11 36248870 36248870 C T rs144773833 LDLRAD3 Synonymous SNV N181N 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.83 262523 chr2 179606172 179606172 C T rs186624523 TTN Nonsynonymous SNV E3567K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.23 262524 chr11 46726771 46726771 G T ZNF408 Nonsynonymous SNV Q499H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 262525 chr20 48808064 48808064 C T CEBPB Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 262526 chr20 50140306 50140306 G A NFATC2 Synonymous SNV F138F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.543 262527 chr2 240961724 240961724 G A rs771275102 NDUFA10 Nonsynonymous SNV R37C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 262528 chr2 202356427 202356427 G T rs887060013 C2CD6 Nonsynonymous SNV A1546E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 262529 chr2 24929798 24929798 A C rs142232969 NCOA1 Nonsynonymous SNV M487L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.567 262530 chr2 100055273 100055273 C T rs140633437 REV1 Nonsynonymous SNV A335T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.34 262531 chr2 179644919 179644919 T A TTN Nonsynonymous SNV L1133F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 262532 chr2 112945000 112945000 G A rs368513842 FBLN7 Nonsynonymous SNV D367N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 262533 chr12 133196619 133196619 A G rs142844880 P2RX2, P2RX2 Nonsynonymous SNV Q92R 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 15.35 262534 chr11 55904800 55904800 T C OR8J3 Nonsynonymous SNV Y132C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 262535 chr2 39964037 39964037 T G THUMPD2 Synonymous SNV A216A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.96 262536 chr19 5905014 5905014 A G rs866543808 VMAC Nonsynonymous SNV H38R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.758 262537 chr19 6040174 6040174 G A rs139786825 RFX2 Synonymous SNV G113G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.941 262538 chr2 46603720 46603720 T C rs149190271 EPAS1 Synonymous SNV T359T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.303 262539 chr2 203818856 203818856 G A rs201808511 CARF Nonsynonymous SNV G98R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.724 262540 chr21 40794940 40794940 T A rs780930244 LCA5L Nonsynonymous SNV I267F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 262541 chr12 22826468 22826468 T G rs780843279 ETNK1 Nonsynonymous SNV D273E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.12 262542 chr2 209353830 209353830 G A PTH2R Synonymous SNV G279G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.84 262543 chr19 8398835 8398835 C T rs764965710 KANK3 Synonymous SNV E531E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 262544 chr12 30867912 30867912 C A rs199593885 CAPRIN2 Synonymous SNV R821R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.9 262545 chr11 60785232 60785232 A G CD6 Synonymous SNV G496G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.247 262546 chr11 61553604 61553604 C T rs148635592 MYRF Synonymous SNV L1109L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 262547 chr21 47571667 47571667 C T rs192895127 FTCD-AS1 Synonymous SNV R73R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.173 262548 chr21 47817316 47817316 G A rs143796569 PCNT Nonsynonymous SNV G1334R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.8 262549 chr12 51402913 51402913 C G rs752559871 SLC11A2 Synonymous SNV T3T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.567 262550 chr2 174943735 174943735 G A rs769087977 OLA1 Synonymous SNV Y192Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.147 262551 chr11 64034850 64034850 G A rs562555278 PLCB3 Nonsynonymous SNV C1109Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 262552 chr22 19344498 19344498 T A rs781913337 HIRA Nonsynonymous SNV I771F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 262553 chr2 238434379 238434379 G A rs140017366 MLPH Nonsynonymous SNV G231S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.096 262554 chr12 53045453 53045453 G A rs372572918 KRT2 Synonymous SNV S158S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.58 262555 chr2 24432040 24432040 G A rs754355873 ITSN2 Synonymous SNV S1468S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.29 262556 chr2 241808314 241808314 C A rs34116584 AGXT Nonsynonymous SNV P11H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 262557 chr22 25586689 25586689 A G KIAA1671 Nonsynonymous SNV Q1788R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 262558 chr11 66192547 66192547 G A rs148679589 NPAS4 Nonsynonymous SNV G519E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.592 262559 chr1 110466551 110466551 C T rs151241389 CSF1 Synonymous SNV P436P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 262560 chr12 57441458 57441458 C T rs781131982 MYO1A Nonsynonymous SNV R93Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 262561 chr2 27479309 27479309 C T rs151129800 SLC30A3 Synonymous SNV L308L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 262562 chr2 27668298 27668298 C T rs149117098 IFT172 Nonsynonymous SNV V1645I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.74 262563 chr11 69063806 69063806 C G rs779995190 MYEOV Nonsynonymous SNV L239V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.296 262564 chr1 1153914 1153914 A T SDF4 Nonsynonymous SNV V279E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 262565 chr2 37088384 37088384 A G rs140246246 STRN Synonymous SNV L520L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.52 262566 chr12 65264441 65264441 A G TBC1D30 Nonsynonymous SNV I451V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.113 262567 chr1 11839109 11839109 A G rs539147205 C1orf167 Nonsynonymous SNV R875G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.378 262568 chr2 204820450 204820450 A G rs55972840 ICOS Synonymous SNV Q50Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 9.955 262569 chr14 29237796 29237796 G A rs776918484 FOXG1 Synonymous SNV R437R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.492 262570 chr14 30068866 30068866 G C rs200676869 PRKD1 Nonsynonymous SNV T688S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 262571 chr1 1322735 1322735 G A rs146506266 CCNL2 Nonsynonymous SNV P258L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 262572 chr1 146740470 146740470 G A rs140168816 CHD1L Nonsynonymous SNV D136N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 262573 chr11 77907465 77907465 C T rs763070135 USP35 Synonymous SNV R58R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.931 262574 chr2 63182691 63182691 G A EHBP1 Nonsynonymous SNV A786T 0 0.003 0 0 0 1 0 0 0 0 0 0 33 262575 chr2 64794723 64794723 A G rs779494117 AFTPH Nonsynonymous SNV I655V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.9 262576 chr2 65305046 65305046 T G rs143036273 CEP68 Nonsynonymous SNV S684R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.46 262577 chr11 86209051 86209051 G A rs201638333 ME3 Nonsynonymous SNV P220L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 262578 chr12 106461032 106461032 C A rs776076144 NUAK1 Nonsynonymous SNV V512L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.156 262579 chr2 73315295 73315295 C T RAB11FIP5 Nonsynonymous SNV G484E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 262580 chr11 89868750 89868750 G - NAALAD2 E36Kfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 262581 chr22 47134023 47134023 - CCGCCGCCC rs768541948 CERK A7_E8insGAA 0.001 0 0 0 1 0 0 0 0 0 0 0 262582 chr22 50664768 50664768 G A rs762716190 TUBGCP6 Synonymous SNV D547D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.121 262583 chr1 156169796 156169796 T C SLC25A44 Nonsynonymous SNV L53P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 262584 chr1 156256256 156256256 C T rs200567478 TMEM79 Synonymous SNV A321A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.38 262585 chr12 113541803 113541803 G A RASAL1 Synonymous SNV P655P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.82 262586 chr2 54342871 54342871 C T ACYP2 Synonymous SNV Y12Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 262587 chr2 74643172 74643172 A G rs1050871385 C2orf81 Nonsynonymous SNV M75T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 262588 chr2 61575165 61575165 T C USP34 Nonsynonymous SNV M709V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 262589 chr2 64209016 64209016 A G VPS54 Nonsynonymous SNV S48P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 262590 chr12 108920197 108920199 CTC - rs746221707 SART3 E683del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 262591 chr2 69627587 69627587 C A rs201634470 NFU1 Nonsynonymous SNV C69F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.5 262592 chr3 183960352 183960352 C A rs774931482 ALG3 Nonsynonymous SNV G375C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 262593 chr2 73441426 73441426 T C SMYD5 Nonsynonymous SNV F11S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 262594 chr12 117187861 117187861 G A rs756975373 RNFT2 Nonsynonymous SNV G100D 0 0 0.007 0 0 0 0 2 0 0 0 0 11.44 262595 chr12 132549334 132549334 C T rs202177296 EP400 Nonsynonymous SNV P2819L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 262596 chr1 161987291 161987291 T C rs145092080 OLFML2B Nonsynonymous SNV T149A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 262597 chr12 120596298 120596298 G A rs376783689 GCN1 Synonymous SNV H957H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.845 262598 chr12 121711924 121711924 A T CAMKK2 Nonsynonymous SNV S136T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 262599 chr3 121435842 121435842 G A GOLGB1 Stop gain Q264X 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 262600 chr12 123476384 123476384 G C rs541571428 PITPNM2 Synonymous SNV P822P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 262601 chr3 123411684 123411684 C T rs201251944 MYLK Nonsynonymous SNV V979I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 22.2 262602 chr12 126932601 126932601 C A LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 5.809 262603 chr3 10276248 10276248 G C rs981503303 IRAK2 Nonsynonymous SNV E460Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 262604 chr2 152132355 152132355 T C rs755341104 NMI Nonsynonymous SNV S122G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 262605 chr3 108304027 108304027 A T rs113664965 CIP2A Nonsynonymous SNV F45L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 262606 chr3 108356375 108356375 C T rs143396703 DZIP3 Synonymous SNV T348T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 262607 chr3 108403149 108403149 G A rs151259123 DZIP3 Synonymous SNV P990P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 262608 chr3 108572494 108572494 G A rs138948679 TRAT1 Nonsynonymous SNV A74T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 262609 chr3 108677848 108677848 G T rs533634908 MORC1 Synonymous SNV L973L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.271 262610 chr3 108813888 108813888 T C rs543516720 MORC1 Nonsynonymous SNV I151V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.317 262611 chr2 152977094 152977094 G A rs369433659 STAM2 Synonymous SNV L524L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.45 262612 chr3 124438188 124438188 C T rs56410073 KALRN Synonymous SNV S1246S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.899 262613 chr12 19646753 19646753 A G rs751765035 AEBP2 Nonsynonymous SNV N336S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 262614 chr12 21531220 21531220 C T rs763676184 IAPP Nonsynonymous SNV R44C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 262615 chr14 105393538 105393538 C T rs554427000 PLD4 Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 262616 chr12 27113455 27113455 T C rs898908900 FGFR1OP2 Nonsynonymous SNV M135T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 262617 chr14 105936502 105936504 CCA - rs782060709 MTA1 P703del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 262618 chr12 27152511 27152511 T C rs752834273 TM7SF3 Synonymous SNV S115S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 262619 chr3 44540687 44540687 C G rs768439211 ZNF852 Nonsynonymous SNV R527P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.291 262620 chr12 27820245 27820245 C T rs749363001 PPFIBP1 Nonsynonymous SNV P244S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 262621 chr12 28459808 28459808 T G CCDC91 Nonsynonymous SNV L134R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 262622 chr15 31197365 31197365 A G FAN1 Nonsynonymous SNV K167E 0.003 0 0 0 3 0 0 0 0 0 0 0 17.97 262623 chr2 175618354 175618354 G A rs150638770 CHRNA1 Synonymous SNV L219L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.79 262624 chr3 133473408 133473408 G A rs765784216 TF Nonsynonymous SNV R5Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 262625 chr13 96439290 96439290 C G DNAJC3 Nonsynonymous SNV A413G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 262626 chr15 34146650 34146650 C T rs567024433 RYR3 Synonymous SNV N4615N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.16 262627 chr3 47043416 47043416 G A rs147659992 NBEAL2 Nonsynonymous SNV A1563T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24 262628 chr3 48456635 48456635 C T rs144825092 PLXNB1 Nonsynonymous SNV V1306M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 262629 chr15 41805300 41805300 C T rs767704043 LTK Nonsynonymous SNV S21N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 262630 chr3 155232578 155232578 A G rs200627532 PLCH1 Synonymous SNV P510P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.635 262631 chr3 49711950 49711950 C G APEH Nonsynonymous SNV A14G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 262632 chr13 111933018 111933018 T G rs755135076 ARHGEF7 Synonymous SNV S338S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.146 262633 chr3 50375319 50375319 C T rs187066753 RASSF1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 9.862 262634 chr1 202288161 202288161 C T rs765601692 LGR6 Synonymous SNV P771P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.079 262635 chr15 43461869 43461869 C G TMEM62 Nonsynonymous SNV L254V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.85 262636 chr3 52692283 52692283 T C rs763396689 PBRM1 Nonsynonymous SNV I193V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.132 262637 chr14 20763473 20763473 G A TTC5 Synonymous SNV P352P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.76 262638 chr12 53043736 53043736 G A rs2232551 KRT2 Nonsynonymous SNV R275C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 262639 chr3 164758807 164758807 T A rs780664460 SI Nonsynonymous SNV T694S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.576 262640 chr14 20897769 20897769 A C KLHL33 Nonsynonymous SNV L314R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.63 262641 chr15 48797302 48797302 C T rs746073643 FBN1 Nonsynonymous SNV R627H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 21.6 262642 chr2 95954721 95954721 C T rs201517106 PROM2 Nonsynonymous SNV R828W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 262643 chr3 172477960 172477960 A G ECT2 Synonymous SNV T166T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.43 262644 chr3 182585181 182585181 T C ATP11B Nonsynonymous SNV I546T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 262645 chr3 7620258 7620258 T G rs199524986 GRM7 Nonsynonymous SNV F555L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.945 262646 chr1 215345516 215345516 C T KCNK2 Synonymous SNV D267D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 262647 chr3 186364055 186364055 T C FETUB Nonsynonymous SNV Y140H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 262648 chr2 215872505 215872505 C T rs766017844 ABCA12 Synonymous SNV S528S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.03 262649 chr12 62974080 62974080 G A rs772059560 MON2 Nonsynonymous SNV V1521I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 262650 chr3 183226289 183226289 C T rs757111409 KLHL6 Nonsynonymous SNV R156Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 262651 chr3 120500209 120500209 C T rs778896559 GTF2E1 Synonymous SNV S404S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.29 262652 chr12 70188998 70188998 G A rs56083207 RAB3IP Synonymous SNV E48E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.745 262653 chr12 71077952 71077952 G A rs58734340 PTPRR Synonymous SNV D239D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.42 262654 chr12 71155262 71155262 C T rs150593774 PTPRR Nonsynonymous SNV V94I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.393 262655 chr4 107230034 107230034 T G TBCK Synonymous SNV G28G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.644 262656 chr12 76784310 76784310 T C OSBPL8 Nonsynonymous SNV S328G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 262657 chr12 76784428 76784428 A G rs992629134 OSBPL8 Synonymous SNV D288D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.834 262658 chr15 78474477 78474477 G A rs761460593 ACSBG1 Nonsynonymous SNV T298M 0.002 0 0 0 2 0 0 0 0 0 0 0 19.21 262659 chr1 228509264 228509264 G A rs755788037 OBSCN Nonsynonymous SNV E4908K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 262660 chr14 54418710 54418710 G A BMP4 Synonymous SNV A77A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 262661 chr12 89995186 89995186 T C rs781117632 ATP2B1 Nonsynonymous SNV K842E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 262662 chr2 228197304 228197304 - ATCCGAGCAGTTGGCAGACTAAAAAGAGAGCGGTCTATGAGTGAAAAT MFF N133_A134insIRAVGRLKRERSMSEN 0.001 0 0 0 1 0 0 0 0 0 0 0 262663 chr1 233507876 233507876 A C MAP3K21 Nonsynonymous SNV T549P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.424 262664 chr12 9216911 9216911 C G rs116023755 LINC00612 0 0 0.007 0 0 0 0 2 0 0 0 0 12.5 262665 chr3 129223243 129223243 C T rs773080594 IFT122 Nonsynonymous SNV R766C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 262666 chr3 19554547 19554547 A G rs377578191 KCNH8 Nonsynonymous SNV E722G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 262667 chr3 44684131 44684131 C A rs771788668 ZNF197, ZNF660-ZNF197 Synonymous SNV L290L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.51 262668 chr3 40558249 40558249 C T rs375097956 ZNF620 Synonymous SNV G274G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 262669 chr12 97041775 97041775 G A rs544174749 CFAP54 Nonsynonymous SNV R1557K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 262670 chr3 44815900 44815900 C T rs139514584 KIF15 Synonymous SNV S11S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.24 262671 chr13 109507839 109507839 G A rs748579205 MYO16 Nonsynonymous SNV E433K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 262672 chr3 38071006 38071006 T A rs756863226 PLCD1 Nonsynonymous SNV T9S 0.001 0 0 0 1 0 0 0 0 0 0 0 22 262673 chr15 90431856 90431856 C T AP3S2, ARPIN-AP3S2 Nonsynonymous SNV G57D 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 262674 chr13 114784273 114784273 A C RASA3 Nonsynonymous SNV L271R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 262675 chr3 46775591 46775591 T C rs547679707 PRSS46P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 262676 chr3 150127201 150127201 G A TSC22D2 Nonsynonymous SNV V22M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 262677 chr13 24243247 24243247 G A rs145685720 TNFRSF19 Nonsynonymous SNV R419Q 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.32 262678 chr3 151163133 151163133 G A rs111999205 IGSF10 Synonymous SNV L1546L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.461 262679 chr3 153839877 153839877 G C rs528513610 ARHGEF26 Synonymous SNV R32R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 262680 chr3 156660502 156660502 A G rs765447125 LEKR1 Synonymous SNV L248L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.52 262681 chr3 46450545 46450545 C A rs200592393 CCRL2 Synonymous SNV P337P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.18 262682 chr3 49765545 49765545 G A rs149764153 IP6K1 Synonymous SNV C96C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 262683 chr3 47891491 47891491 G A DHX30 Nonsynonymous SNV E1156K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 262684 chr3 48336263 48336263 G T rs143717241 NME6 Nonsynonymous SNV A75E 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 262685 chr3 48682251 48682251 C G CELSR3 Synonymous SNV V2661V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 262686 chr3 71804200 71804200 A C GPR27 Nonsynonymous SNV N334H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 262687 chr3 71804201 71804201 A C GPR27 Nonsynonymous SNV N334T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 262688 chr13 52126730 52126730 C T rs190526380 MIR4703 0 0 0.003 0 0 0 0 1 0 0 0 0 4.291 262689 chr4 25394003 25394003 G A rs371711389 ANAPC4 Nonsynonymous SNV R250Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 262690 chr1 32568149 32568149 C T rs6686994 TMEM39B Synonymous SNV L253L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.82 262691 chr1 32671564 32671564 G C rs116496201 IQCC Nonsynonymous SNV K94N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.753 262692 chr14 102792674 102792674 C T rs185772819 ZNF839 Nonsynonymous SNV P98L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.32 262693 chr13 80095078 80095078 G A rs61735407 NDFIP2 Nonsynonymous SNV S152N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 262694 chr1 33956926 33956926 A G ZSCAN20 Synonymous SNV V356V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.891 262695 chr13 98996110 98996110 A G rs111648694 FARP1 Nonsynonymous SNV K89R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 262696 chr3 64184692 64184692 T C rs954168549 PRICKLE2-AS3 0.002 0 0 0 2 0 0 0 0 0 0 0 1.691 262697 chr1 35457917 35457917 G C ZMYM6 Nonsynonymous SNV N688K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 262698 chr1 36227639 36227639 T A rs529775926 CLSPN Synonymous SNV A285A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 262699 chr14 104173424 104173424 G A rs934186909 XRCC3 Nonsynonymous SNV R108C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 262700 chr14 101429462 101429462 G C rs200177679 SNORD114-7 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 262701 chr3 88205660 88205660 C T rs143863539 C3orf38 Nonsynonymous SNV P289S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 262702 chr1 39549918 39549935 AGTGAGCGGTCATGTCGG - rs750221568 MACF1 C20_S25del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 262703 chr14 102900908 102900908 C T rs752275817 TECPR2 Nonsynonymous SNV A585V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 262704 chr2 44209416 44209416 T C LRPPRC Nonsynonymous SNV K103E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.57 262705 chr1 40928378 40928378 G A rs997014385 ZFP69B Nonsynonymous SNV G241E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.893 262706 chr1 41012370 41012370 T C ZNF684 Synonymous SNV L125L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.851 262707 chr3 57543380 57543382 AGG - PDE12 E426del 0.001 0 0 0 1 0 0 0 0 0 0 0 262708 chr4 48116406 48116406 C G rs765750130 TXK Nonsynonymous SNV Q10H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 262709 chr14 105354268 105354268 G A rs778420508 CEP170B Nonsynonymous SNV R1161H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 262710 chr1 43774732 43774732 C G rs201243488 TIE1 Nonsynonymous SNV A328G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 262711 chr3 73113187 73113187 A G rs9823669 PPP4R2 Synonymous SNV P119P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.523 262712 chr15 31776670 31776670 G T OTUD7A Synonymous SNV G536G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.674 262713 chr14 105911817 105911817 C T rs143473048 MTA1 Synonymous SNV S53S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 262714 chr2 65559129 65559129 C T rs866061295 SPRED2 Nonsynonymous SNV V141I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 262715 chr3 25665881 25665881 T C TOP2B Nonsynonymous SNV N796S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 262716 chr14 20850500 20850500 G A rs144008371 TEP1 Nonsynonymous SNV R1278W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 262717 chr2 70443421 70443421 T A rs763253859 TIA1 Nonsynonymous SNV Q152L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 262718 chr4 13462368 13462368 C T rs150040053 RAB28 Nonsynonymous SNV E116K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 262719 chr4 76885298 76885298 T G SDAD1 Nonsynonymous SNV M354L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.3 262720 chr4 155219850 155219850 A G rs148618734 DCHS2 Synonymous SNV T1872T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.134 262721 chr15 43528024 43528024 C G TGM5 Nonsynonymous SNV E371Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 262722 chr4 1206012 1206012 G C CTBP1-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 6.507 262723 chr2 9597122 9597122 C T rs368542543 CPSF3 Nonsynonymous SNV T518I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 262724 chr15 44136166 44136166 A G rs771930301 WDR76 Nonsynonymous SNV I252V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 262725 chr3 10413537 10413537 T C rs56120857 ATP2B2 Nonsynonymous SNV I494V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.826 262726 chr14 53098987 53098987 A G GPR137C Nonsynonymous SNV E276G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 262727 chr15 58357611 58357611 G C rs186496587 LOC283665 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 262728 chr14 55510476 55510476 A T rs772948376 SOCS4 Synonymous SNV T239T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 262729 chr14 55643978 55643978 T C rs748507538 DLGAP5 Nonsynonymous SNV D284G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 262730 chr1 8398027 8398027 C T rs146619116 SLC45A1 Synonymous SNV Y583Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 262731 chr3 11389448 11389448 G C rs138448027 ATG7 Nonsynonymous SNV G369A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 262732 chr14 60193978 60193978 G A rs774510449 RTN1 Nonsynonymous SNV S475L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 262733 chr3 121168178 121168178 G A rs377717694 POLQ Synonymous SNV F2416F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 262734 chr14 64630125 64630125 G A rs116758464 SYNE2 Synonymous SNV L5435L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.54 262735 chr3 122335947 122335947 T C rs140074948 PARP15 Synonymous SNV D78D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.053 262736 chr14 74402757 74402757 A G rs151325166 FAM161B Nonsynonymous SNV L567P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 262737 chr4 186544707 186544707 T C SORBS2 Nonsynonymous SNV S526G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 262738 chr14 74762660 74762660 T C rs183607306 ABCD4 Nonsynonymous SNV S30G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.97 262739 chr14 75248396 75248396 C T YLPM1 Synonymous SNV A550A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 262740 chr15 79298586 79298586 C T rs370166186 RASGRF1 Nonsynonymous SNV V673M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 262741 chr1 984949 984949 G A rs376592885 AGRN Synonymous SNV A1506A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.35 262742 chr20 1459060 1459060 T A rs6042507 SIRPB2 Nonsynonymous SNV E215V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 262743 chr4 3241735 3241735 T C rs362308 HTT Synonymous SNV Y3126Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.309 262744 chr4 2746627 2746627 C T rs772998020 TNIP2 Nonsynonymous SNV D128N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 262745 chr14 95562845 95562845 G A rs1060503657 DICER1 Nonsynonymous SNV P1471L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 22.6 262746 chr4 39314417 39314417 A C rs758157010 RFC1 Nonsynonymous SNV N420K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 262747 chr4 40809115 40809115 - AA rs746537945 NSUN7 Frameshift insertion I481Kfs*26 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 262748 chr4 1165175 1165175 A C SPON2 Nonsynonymous SNV M107R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.84 262749 chr15 31355373 31355373 C T rs369237180 TRPM1 Nonsynonymous SNV G322R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 262750 chr4 57344768 57344768 G A rs1036245427 SRP72 Nonsynonymous SNV V260M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 262751 chr5 149677686 149677686 C T rs114744538 ARSI Synonymous SNV V267V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.252 262752 chr5 150029700 150029700 G A rs61741920 SYNPO Synonymous SNV P621P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.574 262753 chr4 48567628 48567628 A C FRYL Nonsynonymous SNV F1084V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 262754 chr4 5975541 5975541 A C rs936414137 C4orf50 Nonsynonymous SNV C1138G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 262755 chr16 735054 735054 G A WDR24 Synonymous SNV T714T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.592 262756 chr4 6611560 6611560 G A rs61733399 MAN2B2 Nonsynonymous SNV R630H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.152 262757 chr4 6718365 6718365 G C rs146239679 BLOC1S4 Nonsynonymous SNV R143S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 262758 chr5 168271596 168271596 C G rs754193937 SLIT3 Nonsynonymous SNV E184Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 262759 chr5 168271648 168271648 G T rs764284105 SLIT3 Nonsynonymous SNV N166K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.08 262760 chr16 1705878 1705878 C T rs749843552 CRAMP1 Nonsynonymous SNV R374W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 262761 chr15 52620176 52620176 T C rs375254191 MYO5A Nonsynonymous SNV N1476S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 262762 chr16 2570515 2570515 G A AMDHD2 Nonsynonymous SNV R19Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 262763 chr4 77199284 77199284 G A rs201119562 FAM47E, FAM47E-STBD1 Synonymous SNV L311L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 262764 chr15 57731173 57731173 G A CGNL1 Nonsynonymous SNV V326I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 262765 chr4 88977390 88977390 C A PKD2 Synonymous SNV V623V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 262766 chr4 81188138 81188138 A G rs33950145 FGF5 Nonsynonymous SNV M54V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 262767 chr3 195789727 195789727 C G TFRC Nonsynonymous SNV E186Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 262768 chr4 8229683 8229683 C T rs142997118 SH3TC1 Synonymous SNV N678N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.197 262769 chr15 64056325 64056325 A G rs199983480 HERC1 Synonymous SNV L332L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.535 262770 chr5 112179169 112179169 T G rs757020188 APC Synonymous SNV T2608T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.507 262771 chr3 197238876 197238876 C T rs756705857 BDH1 Nonsynonymous SNV A308T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 262772 chr15 66641735 66641735 C T TIPIN Stop gain W9X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 262773 chr3 31789565 31789565 A G rs369799317 OSBPL10 Synonymous SNV I195I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.416 262774 chr4 3219603 3219603 C T rs200455891 HTT Nonsynonymous SNV T2389M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 262775 chr3 38349088 38349088 C T rs146952183 SLC22A14 Synonymous SNV L218L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.555 262776 chr5 118867035 118867035 G A rs148189286 HSD17B4 Synonymous SNV V625V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.1 262777 chr16 19051665 19051665 A G TMC7 Nonsynonymous SNV I70V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.54 262778 chr16 20809240 20809240 G T rs61746707 ERI2 Nonsynonymous SNV Q628K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.188 262779 chr5 112769446 112769446 G A rs372882864 TSSK1B Nonsynonymous SNV T364M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.8 262780 chr16 22237104 22237104 C T rs147612457 EEF2K Synonymous SNV S18S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 262781 chr16 22262012 22262012 C T rs149482446 EEF2K Nonsynonymous SNV T149M 0 0 0 1 0 0 0.003 0 0 0 0 0 24 262782 chr5 137426315 137426315 G C WNT8A Nonsynonymous SNV E221D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 262783 chr16 28996221 28996221 C T rs749827158 LAT Synonymous SNV P13P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.1 262784 chr17 27033752 27033752 C G rs563545838 PROCA1 Nonsynonymous SNV G15R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 262785 chr17 27045280 27045280 A C RAB34 Nonsynonymous SNV S2R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 262786 chr16 30722151 30722151 C T rs749992209 SRCAP Nonsynonymous SNV T404I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 262787 chr15 89868788 89868788 G A rs62640033 POLG Synonymous SNV Y614Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.521 262788 chr3 48666132 48666132 C G rs184187143 SLC26A6 Nonsynonymous SNV G432R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 262789 chr15 91145559 91145559 G A rs147681624 CRTC3 Nonsynonymous SNV D119N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 262790 chr15 91172644 91172644 G A rs375644204 CRTC3 Synonymous SNV P382P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.64 262791 chr3 49139088 49139088 G C QARS1 Nonsynonymous SNV L241V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 262792 chr15 91475337 91475337 A C HDDC3 Nonsynonymous SNV V39G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 262793 chr5 140857861 140857861 A G rs147994096 PCDHGC3 Synonymous SNV L726L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.113 262794 chr16 1004635 1004635 G A rs145036605 LMF1 Synonymous SNV N75N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.537 262795 chr16 1129024 1129024 G A rs4988485 SSTR5 Synonymous SNV A52A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 262796 chr16 11370220 11370220 C T rs374559524 PRM2 Nonsynonymous SNV R3Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 262797 chr3 52861122 52861122 C T rs771667247 ITIH4 Nonsynonymous SNV A115T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 262798 chr21 41465792 41465792 C T DSCAM Nonsynonymous SNV E1236K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 262799 chr3 53845367 53845367 A G CACNA1D Synonymous SNV E2116E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.315 262800 chr3 55508538 55508538 T C WNT5A Nonsynonymous SNV K156E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 262801 chr5 98192287 98192287 G A rs146540815 CHD1 Nonsynonymous SNV R1644W 0.002 0.005 0 2 2 2 0.005 0 0 0 0 0 24.1 262802 chr5 149404076 149404076 C T rs200088455 HMGXB3 Synonymous SNV P265P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.41 262803 chr16 1741934 1741934 T C JPT2 Nonsynonymous SNV F95S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 262804 chr16 1828456 1828456 C T rs368805218 SPSB3 Nonsynonymous SNV R95H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.09 262805 chr16 69905817 69905817 G A rs369812987 WWP2 Nonsynonymous SNV G113D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.15 262806 chr21 45919738 45919738 C T rs782691881 TSPEAR Synonymous SNV T646T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 262807 chr21 46314939 46314939 C T ITGB2 Nonsynonymous SNV E344K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 262808 chr4 96222780 96222780 C T rs781088734 UNC5C Nonsynonymous SNV R156Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.6 262809 chr5 35641668 35641668 A G rs78762910 SPEF2 Synonymous SNV Q99Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 3.359 262810 chr5 35691183 35691183 T C rs115016107 SPEF2 Synonymous SNV N523N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.023 262811 chr5 35691233 35691233 C T rs114311414 SPEF2 Nonsynonymous SNV A540V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.138 262812 chr5 35697881 35697881 A G rs77660141 SPEF2 Nonsynonymous SNV I709M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.226 262813 chr16 3142881 3142881 G T ZSCAN10 Nonsynonymous SNV L20M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 262814 chr22 22843398 22843398 G A rs778987063 ZNF280B Nonsynonymous SNV S109L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 262815 chr4 122251656 122251656 T C rs760519622 QRFPR Nonsynonymous SNV M274V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 262816 chr22 23404010 23404010 A G rs199783550 RSPH14 Nonsynonymous SNV M256T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 262817 chr17 58499971 58499971 G C C17orf64 Synonymous SNV G6G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.856 262818 chr4 148605099 148605099 C A rs78226695 PRMT9 Nonsynonymous SNV G14C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.61 262819 chr5 63496668 63496668 C T rs377421270 RNF180 Nonsynonymous SNV H12Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 262820 chr16 89940096 89940096 G A TCF25 Synonymous SNV R7R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 262821 chr5 180335677 180335677 T C BTNL8 Synonymous SNV N47N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.518 262822 chr16 67579007 67579007 C T RIPOR1 Synonymous SNV G1010G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 262823 chr17 71375687 71375687 G A SDK2 Synonymous SNV N1588N 0.003 0 0 0 3 0 0 0 0 0 0 0 10.09 262824 chr5 40958247 40958247 G A rs369303619 C7 Nonsynonymous SNV R458Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.74 262825 chr16 70285225 70285225 - GGCGCGGGCCCC EXOSC6 P193_T194insGPAP 0 0 0.003 0 0 0 0 1 0 0 0 0 262826 chr5 140867115 140867115 G A PCDHGC4 Nonsynonymous SNV S792N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 262827 chr5 141039407 141039407 C T rs188314811 ARAP3 Nonsynonymous SNV R1069Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 262828 chr5 37226942 37226942 T C rs186970259 CPLANE1 Synonymous SNV S585S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.77 262829 chr5 37227681 37227681 T A rs1032256723 CPLANE1 Nonsynonymous SNV I454L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 262830 chr5 37239884 37239884 T G rs117995360 CPLANE1 Synonymous SNV G255G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.555 262831 chr16 71483022 71483022 G A rs774467006 ZNF23 Synonymous SNV H244H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.72 262832 chr6 17649473 17649473 G A rs143083233 NUP153 Nonsynonymous SNV P485L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.6 262833 chr5 38258870 38258870 G A rs371610360 EGFLAM Nonsynonymous SNV R5Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.786 262834 chr5 148384406 148384406 A G SH3TC2 Synonymous SNV G1245G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.952 262835 chr16 80667128 80667128 C G CDYL2 Nonsynonymous SNV A208P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 262836 chr5 63986459 63986459 G A SHISAL2B Synonymous SNV E3E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 262837 chr5 65016616 65016616 G T rs770564352 SGTB Nonsynonymous SNV L7M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 262838 chr5 90074350 90074350 C T rs761153859 ADGRV1 Nonsynonymous SNV T4258M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.8 262839 chr5 149495377 149495377 C T rs183852315 PDGFRB Synonymous SNV P1026P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.76 262840 chr5 71493069 71493069 C T rs34093016 MAP1B Nonsynonymous SNV P1170L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.46 262841 chr17 7192855 7192855 G A rs940881227 YBX2 Synonymous SNV A346A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.21 262842 chr17 7388104 7388104 C T rs775645262 POLR2A Synonymous SNV P7P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.45 262843 chr17 8048217 8048217 G A rs200635045 PER1 Synonymous SNV D771D 0 0 0 2 0 0 0.005 0 0 0 0 0 8.269 262844 chr6 116720624 116720624 C T DSE Nonsynonymous SNV L71F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.64 262845 chr5 79032116 79032126 GCCGATGCTAT - CMYA5 D2511Tfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 262846 chr17 9448580 9448580 G A rs878861110 STX8 Stop gain R78X 0 0 0 1 0 0 0.003 0 0 0 0 0 42 262847 chr5 80639988 80639988 C T rs377749793 ACOT12 Nonsynonymous SNV R324H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 262848 chr2 102644771 102644771 C T rs148258277 IL1R2 Nonsynonymous SNV R372W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 262849 chr2 113514428 113514428 C T rs372791577 CKAP2L Nonsynonymous SNV E9K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.977 262850 chr17 19316086 19316086 C A rs200181193 RNF112 Nonsynonymous SNV P124H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 262851 chr17 17701134 17701134 C T rs746563333 RAI1 Synonymous SNV H1624H 0 0 0.007 0 0 0 0 2 0 0 0 0 6.321 262852 chr2 120317281 120317281 C G CFAP221 Nonsynonymous SNV S86C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 262853 chr17 18181651 18181651 C T rs200281269 TOP3A Nonsynonymous SNV R627H 0 0 0.007 0 0 0 0 2 0 0 0 0 33 262854 chr6 110636619 110636619 C T rs199870464 METTL24 Stop gain W161X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 262855 chr6 111543308 111543308 A G rs114460402 SLC16A10 Nonsynonymous SNV H473R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 262856 chr5 37185109 37185109 C T rs139594497 CPLANE1 Nonsynonymous SNV R1421H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 262857 chr5 37314379 37314379 C T rs149960589 NUP155 Nonsynonymous SNV R786Q 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 23.1 262858 chr17 2279501 2279501 A G rs143912778 SGSM2 Nonsynonymous SNV N807S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 262859 chr17 28706369 28706369 C T CPD Nonsynonymous SNV P124L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 262860 chr17 36622587 36622587 T A ARHGAP23 Nonsynonymous SNV S221R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.48 262861 chr17 37499434 37499434 G A rs371836119 FBXL20 Nonsynonymous SNV R35W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 262862 chr6 144869898 144869898 G A rs139403938 UTRN Nonsynonymous SNV D2240N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 262863 chr7 100173619 100173619 G A rs548519774 LRCH4 Nonsynonymous SNV R551W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 262864 chr7 100285473 100285473 C T rs139996819 GIGYF1 Nonsynonymous SNV A67T 0.003 0.003 0 4 4 1 0.01 0 0 0 0 0 23.7 262865 chr6 152647652 152647652 G A rs772100783 SYNE1 Synonymous SNV D4953D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.72 262866 chr17 38173100 38173100 C T rs1045209841 CSF3 Nonsynonymous SNV P132L 0 0 0.007 0 0 0 0 2 0 0 0 0 24.4 262867 chr17 38179023 38179023 G A rs148635606 MED24 Synonymous SNV Y756Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.677 262868 chr5 72424241 72424241 C T rs933565205 TMEM171 Nonsynonymous SNV P222L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 262869 chr17 38928189 38928189 G A rs751899879 KRT26 Synonymous SNV S59S 0 0 0.007 0 0 0 0 2 0 0 0 0 6.891 262870 chr19 677853 677853 T A FSTL3 Nonsynonymous SNV D55E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 262871 chr17 39888636 39888636 G T rs142535684 HAP1 Nonsynonymous SNV P195H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 262872 chr17 39580549 39580549 G A KRT37 Nonsynonymous SNV A76V 0 0 0.007 0 0 0 0 2 0 0 0 0 16.27 262873 chr6 16328384 16328384 C G rs754100060 ATXN1 Nonsynonymous SNV R53P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 262874 chr17 40997461 40997461 G A rs35508987 AOC2 Nonsynonymous SNV R273Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.62 262875 chr7 105146493 105146493 T C rs199676352 PUS7 Nonsynonymous SNV E165G 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.1 262876 chr17 42462572 42462572 T C rs898295469 ITGA2B Synonymous SNV G210G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.811 262877 chr17 42827992 42827992 C T rs370676251 DBF4B Stop gain R407X 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 262878 chr7 112127107 112127107 G T LSMEM1 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 262879 chr17 50235106 50235106 T C rs757526132 CA10 Nonsynonymous SNV N14S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.087 262880 chr5 140250692 140250692 G A PCDHA11 Synonymous SNV L668L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 262881 chr17 47895302 47895302 C T rs544484216 KAT7 Synonymous SNV L193L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 262882 chr17 4794325 4794325 C T rs762740783 MINK1 Nonsynonymous SNV P549L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 262883 chr17 58128222 58128222 C G HEATR6 Nonsynonymous SNV E802D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 262884 chr6 36651915 36651915 T C rs199896504 CDKN1A Nonsynonymous SNV C13R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.004 262885 chr6 499672 499672 C A rs80011872 EXOC2 Synonymous SNV L803L 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Benign 17.32 262886 chr6 41773705 41773705 A C USP49 Nonsynonymous SNV S339R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.156 262887 chr17 56429657 56429657 G A TSPOAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.02 262888 chr17 70943942 70943942 G A SLC39A11 Nonsynonymous SNV P127S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 262889 chr6 43410859 43410859 C T rs371141734 ABCC10 Nonsynonymous SNV A765V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.726 262890 chr17 61684775 61684775 C T rs778790809 TACO1 Nonsynonymous SNV A215V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 262891 chr17 72519784 72519784 G A rs142435917 CD300LB Nonsynonymous SNV A126V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.207 262892 chr17 72850836 72850836 G A GRIN2C Synonymous SNV P132P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.351 262893 chr2 220412402 220412402 G A rs143196218 TMEM198 Nonsynonymous SNV R114H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 262894 chr6 46659258 46659258 A C rs769360953 TDRD6 Nonsynonymous SNV K1131N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 262895 chr6 39285704 39285704 G C KCNK16 Nonsynonymous SNV T118R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 262896 chr17 65051287 65051287 G A rs147258815 CACNG1 Nonsynonymous SNV V125I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 262897 chr2 220499248 220499248 C T rs374095967 SLC4A3 Synonymous SNV F583F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 262898 chr6 152652709 152652709 G C rs766776939 SYNE1 Nonsynonymous SNV L4300V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 262899 chr6 155579210 155579210 - AACA TFB1M Frameshift insertion L172Ffs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 262900 chr2 233001350 233001350 G A DIS3L2 Nonsynonymous SNV A291T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.566 262901 chr2 233655834 233655834 T A rs148277228 GIGYF2 Nonsynonymous SNV D343E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 262902 chr17 7225295 7225295 G A rs775345780 NEURL4 Synonymous SNV C918C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.169 262903 chr5 176859066 176859066 G A rs535367119 GRK6 Synonymous SNV T73T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 262904 chr17 7254708 7254708 G A ACAP1 Synonymous SNV T739T 0 0 0.007 0 0 0 0 2 0 0 0 0 10.73 262905 chr6 74210319 74210319 C T rs151330992 MTO1 Nonsynonymous SNV P647L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 262906 chr2 239756932 239756932 C G TWIST2 Nonsynonymous SNV P26A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.11 262907 chr17 76676287 76676287 C T CYTH1 Stop gain W309X 0 0 0.003 0 0 0 0 1 0 0 0 0 53 262908 chr18 3090721 3090721 G C rs748195985 MYOM1 Nonsynonymous SNV T1219R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.5 262909 chr2 26700358 26700358 C T rs754243402 OTOF Nonsynonymous SNV A88T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 262910 chr18 12546767 12546767 T C SPIRE1 Nonsynonymous SNV N170S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.845 262911 chr18 19244093 19244093 C T rs375511804 ABHD3 Synonymous SNV G218G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.98 262912 chr17 79632531 79632531 C A rs377125959 OXLD1 Synonymous SNV A48A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.71 262913 chr2 3447587 3447587 G A rs772550078 TRAPPC12 Synonymous SNV A485A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 262914 chr17 8397063 8397063 G T MYH10 Synonymous SNV A1368A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.534 262915 chr6 42141480 42141480 C T rs530200190 GUCA1A Synonymous SNV F43F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.36 262916 chr18 20716258 20716258 G A rs200098768 CABLES1 Nonsynonymous SNV E178K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 262917 chr7 107820813 107820813 T G rs139634064 NRCAM Nonsynonymous SNV K867T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 262918 chr18 24918579 24918579 G T LOC105372038 0 0 0.003 0 0 0 0 1 0 0 0 0 1.809 262919 chr5 7885888 7885888 C T MTRR Synonymous SNV S326S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.177 262920 chr7 140395705 140395705 C G NDUFB2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 3.013 262921 chr18 29172911 29172911 G A rs879254269 TTR Nonsynonymous SNV R41Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.959 262922 chr7 100680061 100680061 G A rs139517964 MUC17 Synonymous SNV S1788S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.996 262923 chr18 60383507 60383507 C T rs1038320366 PHLPP1 Synonymous SNV H197H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 12.06 262924 chr7 128587381 128587381 - ACTCTGCAGCCGCCC rs768251684 IRF5 P187_V188insTLQPP 0.002 0 0 0 2 0 0 0 0 0 0 0 262925 chr18 44774986 44774986 G T rs775754537 SKOR2 Nonsynonymous SNV S190Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 262926 chr18 47431064 47431064 A G rs774586048 MYO5B Nonsynonymous SNV F850S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 262927 chr6 6003402 6003402 C T NRN1 Nonsynonymous SNV A45T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.5 262928 chr7 115897423 115897423 T C TES Nonsynonymous SNV S385P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 262929 chr2 85578987 85578987 T C rs147080219 RETSAT 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 262930 chr2 85626356 85626356 G A rs774144382 CAPG Nonsynonymous SNV A190V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 262931 chr19 37734248 37734248 A T ZNF383 Nonsynonymous SNV E370D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 262932 chr18 77917923 77917923 A C rs994558602 PARD6G Nonsynonymous SNV F288V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 262933 chr6 7356308 7356308 T C rs770771982 CAGE1 Nonsynonymous SNV I750V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.537 262934 chr18 59777089 59777089 T C PIGN Nonsynonymous SNV I518V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 262935 chr7 135322749 135322749 A G rs746586339 NUP205 Nonsynonymous SNV D1378G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 262936 chr7 137569843 137569843 C T rs766246045 CREB3L2 Nonsynonymous SNV A327T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 262937 chr18 72344108 72344108 A G rs77518676 ZNF407 Nonsynonymous SNV Q378R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.94 262938 chr18 72776160 72776160 C T rs200244471 ZNF407 Synonymous SNV G2161G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.83 262939 chr6 121427225 121427225 C T rs765542061 TBC1D32 Nonsynonymous SNV A1137T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.008 262940 chr8 124358372 124358372 A C ATAD2 Nonsynonymous SNV V829G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 262941 chr19 42830476 42830476 G C MEGF8 Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 262942 chr7 149571218 149571218 A G rs889602577 ATP6V0E2 Nonsynonymous SNV I71V 0.003 0 0 0 3 0 0 0 0 0 0 0 18.74 262943 chr7 2749286 2749286 G A rs371888865 AMZ1 Nonsynonymous SNV R205Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 262944 chr6 158454575 158454575 C T rs200842364 SYNJ2 Nonsynonymous SNV R192C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 262945 chr19 14044799 14044799 A C rs377530750 PODNL1 Nonsynonymous SNV L136R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 262946 chr7 29132280 29132280 T C rs140767560 CPVL Synonymous SNV G107G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.931 262947 chr19 14141595 14141595 C T rs374733740 RLN3 Synonymous SNV S88S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 262948 chr19 48664715 48664715 C T rs930594840 LIG1 Nonsynonymous SNV V23M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 262949 chr19 14806440 14806440 A G ZNF333 Nonsynonymous SNV T64A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 262950 chr19 49183499 49183499 C T rs542869925 SEC1P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.346 262951 chr7 31683367 31683367 A G rs189731201 ITPRID1 Nonsynonymous SNV M795V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 262952 chr7 31692423 31692423 G A rs140998733 ITPRID1 Nonsynonymous SNV D1039N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.683 262953 chr7 2687132 2687132 C T TTYH3 Synonymous SNV P162P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 262954 chr19 17375054 17375054 C T rs371356472 USHBP1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 262955 chr6 170871054 170871061 AGCAGCAG ACAG TBP Q57Hfs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 262956 chr3 137787127 137787127 C T rs150762111 DZIP1L Synonymous SNV P566P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 262957 chr7 53103606 53103606 G A rs200843333 POM121L12 Nonsynonymous SNV R81Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 262958 chr3 143185920 143185920 A G rs61734421 SLC9A9 Synonymous SNV F476F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.038 262959 chr7 128490246 128490246 A G rs917007649 FLNC-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.954 262960 chr3 148763880 148763880 C T rs770651808 HLTF Nonsynonymous SNV A686T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 262961 chr19 18723859 18723859 C G TMEM59L Nonsynonymous SNV P31A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 262962 chr7 136939622 136939622 C T rs748720545 PTN Synonymous SNV G33G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.44 262963 chr19 2248232 2248232 C G rs777410656 SF3A2 Nonsynonymous SNV A361G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.27 262964 chr19 23456998 23456998 C T rs117744375 IPO5P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.213 262965 chr7 141255314 141255314 A G rs553362366 AGK Synonymous SNV T16T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.004 262966 chr7 892521 892521 A G rs750701709 SUN1 Nonsynonymous SNV T226A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 262967 chr19 15122025 15122025 G T rs758442019 CCDC105 Nonsynonymous SNV A130S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.5 262968 chr7 92099284 92099284 G A rs574525767 ERVW-1 Nonsynonymous SNV R138W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 262969 chr7 72985061 72985061 C T rs782637042 TBL2 Nonsynonymous SNV E209K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 262970 chr19 36211118 36211118 G A rs200835025 KMT2B Nonsynonymous SNV R290H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 262971 chr19 36278215 36278215 C T rs148307360 ARHGAP33 Synonymous SNV S780S 0.002 0 0.01 0 2 0 0 3 0 0 0 0 5.969 262972 chr19 37441420 37441420 C T rs768529447 ZNF568 Synonymous SNV F391F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 262973 chr8 87460440 87460440 A C WWP1 Nonsynonymous SNV S688R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 262974 chr6 42980956 42980956 C G MEA1 Nonsynonymous SNV G54A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 262975 chr19 3822137 3822137 T C rs370490699 ZFR2 Nonsynonymous SNV N478S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 262976 chr8 110346149 110346149 G C rs554025024 NUDCD1 Nonsynonymous SNV P31A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 262977 chr8 110346150 110346150 C A rs570614654 NUDCD1 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 262978 chr19 39226773 39226773 G A rs373743240 CAPN12 Synonymous SNV F520F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.732 262979 chr19 40513191 40513191 C T rs114290052 ZNF546 Nonsynonymous SNV A35V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 262980 chr3 20043343 20043343 G A rs143624104 PP2D1 Nonsynonymous SNV T90M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.052 262981 chr7 99217615 99217615 C T rs751205406 ZSCAN25 Nonsynonymous SNV A129V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 262982 chr19 41269551 41269551 C T rs116493527 SNRPA Synonymous SNV N220N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 262983 chr19 41307140 41307140 C T rs150973573 EGLN2 Synonymous SNV D221D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 262984 chr19 41313174 41313174 C T rs775857945 EGLN2 Synonymous SNV A365A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 262985 chr19 41744408 41744408 C T rs374067962 AXL Nonsynonymous SNV T75M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.34 262986 chr19 42744113 42744113 C T rs756721690 GSK3A Synonymous SNV R155R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 262987 chr9 112219584 112219584 G A rs35279031 PTPN3 Synonymous SNV S78S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.92 262988 chr8 144945175 144945175 G T EPPK1 Nonsynonymous SNV F749L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 262989 chr19 58983484 58983484 C T rs778428124 ZNF324 Nonsynonymous SNV S542L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.021 262990 chr6 64395576 64395576 C T rs928791359 PHF3 Synonymous SNV G563G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.926 262991 chr3 3887534 3887534 C T rs113247781 LRRN1 Synonymous SNV P403P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.08 262992 chr6 71234919 71234919 C A rs143044925 FAM135A Nonsynonymous SNV T482K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 262993 chr9 116956730 116956730 G C COL27A1 Nonsynonymous SNV G688A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.6 262994 chr8 145111987 145111987 G A rs553686674 OPLAH Synonymous SNV L524L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.176 262995 chr9 116994125 116994125 G C rs779410306 COL27A1 Nonsynonymous SNV E848D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.82 262996 chr8 1496820 1496820 G C DLGAP2 Nonsynonymous SNV Q67H 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 10.04 262997 chr9 124089678 124089678 C T rs73660439 GSN Synonymous SNV S611S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.46 262998 chr19 45579346 45579346 G A rs200957174 ZNF296 Nonsynonymous SNV P96S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 262999 chr8 17142118 17142118 A G VPS37A Nonsynonymous SNV K344R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 263000 chr8 144942892 144942892 C G EPPK1 Nonsynonymous SNV E1510D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 263001 chr8 144945463 144945463 G A EPPK1 Synonymous SNV I653I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.647 263002 chr9 125424766 125424766 C G rs237620 OR1L1 Nonsynonymous SNV L258V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 263003 chr19 47879221 47879221 A G rs746443303 DHX34 Nonsynonymous SNV Q783R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 263004 chr8 139164246 139164246 T C FAM135B Synonymous SNV G824G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 263005 chr3 48677621 48677621 C T rs150960747 CELSR3 Nonsynonymous SNV A3133T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 263006 chr8 145541612 145541612 G A rs199537660 DGAT1 Nonsynonymous SNV R274W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 263007 chr9 130551711 130551711 C T rs3217749 CDK9 Synonymous SNV F336F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.7 263008 chr9 130580575 130580575 C T rs116330805 ENG Nonsynonymous SNV V504M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 18.82 263009 chr9 130580633 130580633 G A rs115450389 ENG Synonymous SNV S484S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.51 263010 chr19 48953982 48953982 G A rs201666798 GRWD1 Nonsynonymous SNV G248S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 263011 chr19 49001554 49001554 G A rs201144422 LMTK3 Synonymous SNV N953N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 263012 chr8 144295150 144295150 C T rs776871524 GPIHBP1 Nonsynonymous SNV A3V 0.003 0 0 0 3 0 0 0 0 0 0 0 10.99 263013 chr8 144621110 144621110 G A rs755125057 ZC3H3 Nonsynonymous SNV R143W 0.003 0 0 0 4 0 0 0 0 0 0 0 25.6 263014 chr20 25257905 25257905 G A rs753110121 PYGB Synonymous SNV A266A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 263015 chr19 49812609 49812609 A - rs762715400 SLC6A16 L313Yfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 263016 chr8 28573598 28573598 C T rs780815544 EXTL3 Nonsynonymous SNV R8W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 263017 chr8 29013285 29013285 G A rs778864660 KIF13B Nonsynonymous SNV T498M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.3 263018 chr8 33451237 33451237 G A rs778191669 DUSP26 Nonsynonymous SNV R84C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 263019 chr20 33587148 33587148 G A rs767764851 MYH7B Nonsynonymous SNV G1536S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 263020 chr19 51656604 51656604 C G rs147682036 LOC101928517 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 263021 chr9 139272025 139272025 C T rs370117199 SNAPC4 Synonymous SNV P1418P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.535 263022 chr19 48305670 48305670 A G rs201483839 TPRX1 Nonsynonymous SNV S200P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 0.001 263023 chr8 10467589 10467589 - CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGATTTAGTCC RP1L1 E1339_E1340insGTKSEEGLQEEGVQLE 0 0 0 1 0 0 0.003 0 0 0 0 0 263024 chr20 55908794 55908794 C G rs35213336 SPO11 Nonsynonymous SNV T91S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 263025 chr8 106814516 106814516 C T rs371546027 ZFPM2 Nonsynonymous SNV R683C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 263026 chr8 110293215 110293215 A G rs753312532 NUDCD1 Nonsynonymous SNV I308T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 263027 chr8 99539006 99539006 A T rs776939644 STK3 Nonsynonymous SNV D316E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.09 263028 chr9 2039784 2039784 A C rs145170448 SMARCA2 Nonsynonymous SNV Q225P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.73 263029 chr19 55558824 55558824 C T rs767663262 RDH13 Nonsynonymous SNV G231S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 263030 chr9 26920268 26920268 C G PLAA Nonsynonymous SNV G385A 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 263031 chr8 75157094 75157094 C T rs140054578 JPH1 Synonymous SNV A525A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.6 263032 chr19 55751205 55751205 T C rs201179262 PPP6R1 Nonsynonymous SNV M518V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 263033 chr19 5587269 5587269 G A rs542915313 SAFB2 Synonymous SNV F949F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 263034 chr9 35557915 35557915 G C rs375304496 RUSC2 Synonymous SNV L118L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.097 263035 chr9 35906372 35906372 A G rs200269279 HRCT1 Nonsynonymous SNV T30A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.69 263036 chr19 52250222 52250222 G A rs148095693 FPR1 Nonsynonymous SNV T9M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.044 263037 chr9 109686783 109686783 C G ZNF462 Nonsynonymous SNV P197R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 263038 chr8 86358523 86358523 C A CA3 Nonsynonymous SNV D220E 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 263039 chr4 160272319 160272319 G A RAPGEF2 Nonsynonymous SNV R1164Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.6 263040 chr21 41416026 41416026 C T rs748431627 DSCAM Nonsynonymous SNV V1788I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 263041 chr8 145577457 145577457 - GCACCA rs781984640 TMEM249 A138_A139insGA 0 0 0 1 0 0 0.003 0 0 0 0 0 263042 chr19 55899470 55899470 A G rs1870075 RPL28 Synonymous SNV E126E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.912 263043 chr19 55903002 55903002 T C rs7260639 RPL28 Synonymous SNV C135C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 0.017 263044 chr8 145689665 145689665 C T CYHR1 Nonsynonymous SNV G142R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.07 263045 chr19 55992899 55992899 G A rs147923255 ZNF628 Synonymous SNV V113V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.155 263046 chr8 145701133 145701133 G A FOXH1 Nonsynonymous SNV P3S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 263047 chr9 131122626 131122626 C G rs752347187 SLC27A4 Nonsynonymous SNV F596L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.732 263048 chr19 55995148 55995148 C G rs112775775 ZNF628 Nonsynonymous SNV T863S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.076 263049 chr8 146068403 146068403 A G ZNF7 Synonymous SNV E541E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.666 263050 chr7 27224463 27224463 C G HOXA11 Nonsynonymous SNV G101R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.47 263051 chr9 132636945 132636945 G A rs118142639 USP20 Nonsynonymous SNV D611N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.6 263052 chr9 130269518 130269518 C T NIBAN2 Nonsynonymous SNV R603Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 263053 chr4 3495033 3495033 C T rs368868378 DOK7 Synonymous SNV A130A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.708 263054 chr19 9639365 9639365 T C ZNF426 Synonymous SNV E414E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 263055 chr1 103548505 103548505 C T rs150090939 COL11A1 Nonsynonymous SNV A44T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 32 263056 chr8 25268732 25268732 G A rs150394074 DOCK5 Nonsynonymous SNV R1844Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 32 263057 chr1 107599747 107599747 C T rs754439506 PRMT6 Nonsynonymous SNV P137L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 263058 chr9 125316215 125316215 C T OR1N2 Nonsynonymous SNV S242F 0.001 0 0 0 1 0 0 0 0 0 0 0 27 263059 chr1 109815536 109815536 G A CELSR2 Nonsynonymous SNV S2742N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 263060 chr1 109883383 109883383 G A rs746387781 SORT1 Synonymous SNV S272S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 263061 chr9 125487137 125487137 T C OR1L4 Nonsynonymous SNV I290T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 263062 chr1 110717555 110717555 C T rs746648884 SLC6A17 Synonymous SNV V242V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.85 263063 chr9 136573442 136573442 G A rs375793962 SARDH Synonymous SNV A479A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 263064 chr1 111957583 111957583 A G rs1126656 OVGP1 Nonsynonymous SNV Y514H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 263065 chr1 111957592 111957592 A G rs56294468 OVGP1 Nonsynonymous SNV S511P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 263066 chr4 55129867 55129867 C T rs373126818 PDGFRA Nonsynonymous SNV T134M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.62 263067 chr4 55151542 55151542 A G rs570110696 PDGFRA Synonymous SNV S776S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.656 263068 chr9 138710348 138710348 G A rs184247452 CAMSAP1 Synonymous SNV L1358L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 263069 chr1 1141927 1141927 C T rs551133267 TNFRSF18 Nonsynonymous SNV A9T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 263070 chr9 139328541 139328541 C T rs201857820 INPP5E Nonsynonymous SNV D328N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 263071 chr1 1168090 1168090 C G B3GALT6 Nonsynonymous SNV D144E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 263072 chr1 1168143 1168143 G A rs376811907 B3GALT6 Nonsynonymous SNV R162Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 29.3 263073 chr9 139752710 139752710 G A rs151125101 MAMDC4 Nonsynonymous SNV G886R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 263074 chr8 61769167 61769167 A G CHD7 Nonsynonymous SNV D2443G 0 0 0 1 0 0 0.003 0 0 0 0 0 24 263075 chr9 139960719 139960719 C T rs141130282 SAPCD2 Nonsynonymous SNV G227S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 263076 chr9 21409564 21409564 T C rs28383787 IFNA8 Nonsynonymous SNV I130T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 263077 chr10 1041893 1041893 T G GTPBP4 Nonsynonymous SNV L82V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 263078 chr9 21481259 21481259 T A rs138418291 IFNE Nonsynonymous SNV K145N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 263079 chr9 132816287 132816287 A T GPR107 Nonsynonymous SNV M26L 0.001 0.008 0 0 1 3 0 0 0 0 0 0 0.006 263080 chr9 133760422 133760422 G A rs753006223 ABL1 Synonymous SNV S915S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.381 263081 chr9 133769160 133769160 C G rs143429351 QRFP Synonymous SNV L22L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.642 263082 chr10 105215048 105215048 C T rs577920633 CALHM1 Nonsynonymous SNV E338K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 263083 chr8 8750399 8750399 A C MFHAS1 Nonsynonymous SNV V57G 0 0 0 1 0 0 0.003 0 0 0 0 0 22 263084 chr9 136522399 136522399 - G rs771500151 DBH-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 263085 chr20 24944559 24944559 C T rs202155184 APMAP Nonsynonymous SNV D381N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.611 263086 chr1 152083413 152083436 TTCCTGCTGCTGCCGGTGAGCCCG - rs773944035 TCHH R753_E760del 0 0 0.007 0 0 0 0 2 0 0 0 0 263087 chr1 152484300 152484300 G A rs201521847 LCE5A Nonsynonymous SNV G97E 0 0 0.01 0 0 0 0 3 0 0 0 0 14.12 263088 chr20 33364141 33364141 T G rs149996813 NCOA6 Nonsynonymous SNV N116H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 263089 chr1 155226544 155226544 G A SCAMP3 Nonsynonymous SNV T247I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.01 263090 chr10 131506273 131506273 C T rs41548114 MGMT Synonymous SNV P80P 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 12.28 263091 chr8 113668398 113668398 T C rs150862620 CSMD3 Nonsynonymous SNV K867E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 263092 chr10 100177936 100177936 A G HPS1 Nonsynonymous SNV Y526H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 263093 chr10 101591866 101591866 G A rs145672804 ABCC2 Nonsynonymous SNV R1079Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 29.6 263094 chr1 158632670 158632670 C T rs777665939 SPTA1 Synonymous SNV K762K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.635 263095 chr10 13696454 13696454 G C FRMD4A Synonymous SNV P695P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.694 263096 chr9 33944596 33944596 A G rs141125550 UBAP2 Synonymous SNV L385L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.952 263097 chr1 160650915 160650915 A G rs549215035 CD48 Synonymous SNV P243P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.02 263098 chrX 100746291 100746291 G C ARMCX4 Nonsynonymous SNV M905I 0.002 0 0 0 2 0 0 0 1 0 0 0 0.065 263099 chr10 23287081 23287081 G T rs148979623 ARMC3 Nonsynonymous SNV A131S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 263100 chr9 127684166 127684166 T A rs931418827 GOLGA1 Nonsynonymous SNV L189F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 263101 chrX 114424308 114424308 G A rs782319087 RBMXL3 Nonsynonymous SNV G102S 0.002 0 0.007 0 2 0 0 2 1 0 1 0 0.011 263102 chrX 119037282 119037282 C T AKAP14 Synonymous SNV Y32Y 0.002 0 0 0 2 0 0 0 1 0 0 0 3.336 263103 chr10 26790031 26790031 T A APBB1IP Synonymous SNV P148P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.371 263104 chrX 129349885 129349885 C T ZNF280C Nonsynonymous SNV S573N 0.002 0 0 0 2 0 0 0 1 0 0 0 0.021 263105 chrX 129762005 129762005 G A rs763274091 ENOX2 Nonsynonymous SNV T514I 0.002 0 0 0 2 0 0 0 1 0 0 0 25.4 263106 chr5 135567096 135567096 T C rs183130916 TRPC7 Synonymous SNV V546V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.911 263107 chr10 30317498 30317498 G T rs375611705 JCAD Nonsynonymous SNV P527T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.156 263108 chr9 738308 738308 G A rs749443160 KANK1 Synonymous SNV Q863Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 263109 chr10 30736869 30736869 G A rs143662794 MAP3K8 Synonymous SNV A165A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.55 263110 chrX 153665644 153665644 C T GDI1 Nonsynonymous SNV T15I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 263111 chr9 77681706 77681706 C T rs147739827 NMRK1 Nonsynonymous SNV E159K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 263112 chr9 133961039 133961039 G A rs769688460 LAMC3 Nonsynonymous SNV A1387T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 263113 chrX 17710588 17710588 G C NHS Synonymous SNV T107T 0.002 0 0 0 2 0 0 0 1 0 0 0 14.27 263114 chr10 126136378 126136378 T C rs111247028 NKX1-2 Nonsynonymous SNV T185A 0 0.005 0 0 0 2 0 0 0 0 0 0 21.8 263115 chr5 141334632 141334632 G A rs182860036 PCDH12 Nonsynonymous SNV R929C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 263116 chr21 34904653 34904653 G C GART Nonsynonymous SNV Q176E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 263117 chr21 34971531 34971531 C T rs1008490508 CRYZL1 Nonsynonymous SNV G201R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 263118 chrX 67937855 67937855 G A rs191372880 STARD8 Nonsynonymous SNV V287I 0.002 0 0.003 0 2 0 0 1 1 0 0 0 0.002 263119 chr8 145660940 145660940 G T MIR6893 0.001 0 0 0 1 0 0 0 0 0 0 0 6.403 263120 chr21 38117217 38117217 C T rs140786374 SIM2 Synonymous SNV H452H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.51 263121 chr21 38437918 38437918 G A rs11553684 PIGP Synonymous SNV F147F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.66 263122 chrX 70887714 70887714 C G LOC101059915 Nonsynonymous SNV Q21E 0.002 0 0 0 2 0 0 0 1 0 0 0 4.931 263123 chr9 139297258 139297258 G A rs372063103 ENTR1 Synonymous SNV D357D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.042 263124 chr5 149375524 149375524 G A rs183209398 TIGD6 Nonsynonymous SNV R130C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 263125 chr10 70333123 70333123 C G TET1 Nonsynonymous SNV P343R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263126 chr5 150905456 150905456 G T FAT2 Nonsynonymous SNV P3460H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 263127 chr10 1042082 1042082 C T rs551022037 GTPBP4 Synonymous SNV G120G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 263128 chrX 150348421 150348421 C T rs761945028 GPR50 Synonymous SNV I122I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.528 263129 chr5 151150307 151150307 A G rs539171828 LOC100652758 0.001 0 0 0 1 0 0 0 0 0 0 0 4.299 263130 chr10 21097476 21097476 T A rs146673676 NEBL Synonymous SNV S908S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 13.46 263131 chr8 21856669 21856669 C T XPO7 Synonymous SNV I810I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 263132 chr21 45784133 45784133 G A rs753087762 TRPM2 Nonsynonymous SNV V131I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.06 263133 chr10 23728474 23728474 A T OTUD1 Nonsynonymous SNV T30S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 263134 chr10 26409656 26409656 A G rs151254539 MYO3A Nonsynonymous SNV I610V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.51 263135 chr21 46271332 46271332 G - rs768151077 PTTG1IP L127Sfs*23 0 0 0 1 0 0 0.003 0 0 0 0 0 263136 chr10 26506774 26506774 T G GAD2 Nonsynonymous SNV L47R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 263137 chr5 159344497 159344497 C T ADRA1B Synonymous SNV C195C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.733 263138 chr1 202287818 202287818 C G rs145765655 LGR6 Nonsynonymous SNV S657C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 263139 chr21 47545941 47545941 C T COL6A2 Nonsynonymous SNV R738W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 263140 chrX 21627197 21627197 C T rs751955877 CNKSR2 Synonymous SNV C639C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 263141 chr1 205210709 205210709 G A rs138497244 TMCC2 Nonsynonymous SNV R17Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 263142 chrX 32716115 32716115 T C rs779964937 DMD Nonsynonymous SNV I270V 0.001 0 0.01 0 1 0 0 3 0 0 1 0 13.16 263143 chr22 18031756 18031756 A G rs200761402 CECR2 Nonsynonymous SNV K1276E 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 263144 chr22 18363991 18363991 G A rs201033965 MICAL3 Nonsynonymous SNV R774W 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 263145 chr22 18913232 18913232 G C rs146472255 LOC102724788, PRODH Synonymous SNV S54S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.884 263146 chr10 90580012 90580012 C T rs12255753 LIPM Synonymous SNV V342V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 263147 chr10 90673065 90673065 G A rs9988723 STAMBPL1 Nonsynonymous SNV A210T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.03 263148 chr10 120801908 120801908 T A rs113389368 EIF3A Nonsynonymous SNV M1042L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.381 263149 chr1 20972189 20972189 G A rs200729715 PINK1 Nonsynonymous SNV D366N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 263150 chr1 209799328 209799328 G T rs774266864 LAMB3 Nonsynonymous SNV D547E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 263151 chr10 123844462 123844462 G A TACC2 Nonsynonymous SNV G816E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.006 263152 chr10 124591732 124591732 C T rs187639528 FAM24B-CUZD1 0 0.003 0 0 0 1 0 0 0 0 0 0 3.366 263153 chr10 99125934 99125934 C T rs145157369 RRP12 Nonsynonymous SNV A1050T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 263154 chr10 99126518 99126518 C T rs147440292 RRP12 Nonsynonymous SNV A966T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.93 263155 chr10 99126546 99126546 T C rs143991248 RRP12 Synonymous SNV E956E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 263156 chr10 126523193 126523193 G T rs143696470 ABRAXAS2 Nonsynonymous SNV A301S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 263157 chr10 99338262 99338262 C T rs36020819 ANKRD2 Nonsynonymous SNV P146L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26.7 263158 chr1 220359048 220359048 T C rs781426488 RAB3GAP2 Synonymous SNV P605P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.185 263159 chr8 68092106 68092106 T C rs10112748 CSPP1 Synonymous SNV D705D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 4.241 263160 chr8 75927083 75927083 G T CRISPLD1 Synonymous SNV G35G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.031 263161 chr1 226030103 226030103 C T rs373882933 EPHX1 Nonsynonymous SNV A323V 0 0 0.003 0 0 0 0 1 0 0 0 0 35 263162 chr1 3379972 3379972 C T rs749071074 ARHGEF16 Synonymous SNV F108F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.55 263163 chr10 75302875 75302875 C T rs763906797 USP54 Nonsynonymous SNV M130I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 263164 chr10 18828261 18828261 C T rs202152674 CACNB2 Nonsynonymous SNV R476C 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 263165 chr5 55164628 55164628 C G IL31RA Nonsynonymous SNV A36G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 263166 chr10 75758049 75758049 G C VCL Nonsynonymous SNV E28D 0 0.003 0 0 0 1 0 0 0 0 0 0 26 263167 chr10 77161100 77161100 - CCGCTTCCGCCT ZNF503 G27_A28insGSGG 0 0.003 0 0 0 1 0 0 0 0 0 0 263168 chr10 78977285 78977285 A G KCNMA1 Synonymous SNV I6I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.627 263169 chr1 233122016 233122016 A G rs201952935 PCNX2 Nonsynonymous SNV L2021P 0 0 0.007 0 0 0 0 2 0 0 0 0 27.9 263170 chr1 235878649 235878649 C T LYST Synonymous SNV E3212E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 263171 chr22 43575643 43575643 C T rs145564193 TTLL12 Synonymous SNV P274P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.515 263172 chr10 95147644 95147644 C T rs202052471 MYOF Synonymous SNV R523R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.48 263173 chr22 43930574 43930574 G C EFCAB6 Nonsynonymous SNV H1257Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 263174 chr11 117869853 117869853 C T rs143538561 IL10RA Nonsynonymous SNV R412W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24 263175 chr1 22063093 22063093 G A rs377358076 USP48 Synonymous SNV S339S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.96 263176 chr11 121323173 121323173 G T rs577492989 SORL1 Nonsynonymous SNV D45Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 263177 chr10 61833657 61833657 G A rs147219129 ANK3 Nonsynonymous SNV R2328C 0.004 0 0 0 5 0 0 0 0 0 0 0 Uncertain significance 29.2 263178 chr1 26672647 26672647 T A rs146745413 CRYBG2 Nonsynonymous SNV S168C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.41 263179 chr1 2939330 2939330 C T rs1047466090 ACTRT2 Synonymous SNV T360T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.497 263180 chr10 72531186 72531186 C T rs112305095 TBATA Nonsynonymous SNV M335I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.027 263181 chr10 73439205 73439205 C T rs201475055 CDH23 Nonsynonymous SNV A605V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 263182 chrX 71354380 71354380 G A rs72630038 NHSL2 Nonsynonymous SNV E196K 0 0 0 2 0 0 0.005 0 0 0 0 1 Uncertain significance 22.6 263183 chr10 75260585 75260585 G A rs150856920 USP54 Synonymous SNV N1379N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.54 263184 chr1 3431191 3431191 C T rs61746170 MEGF6 Nonsynonymous SNV C259Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.6 263185 chr10 75671998 75671998 A G rs200927138 PLAU Synonymous SNV G20G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.4 263186 chr1 36056280 36056280 C T rs147395899 TFAP2E Nonsynonymous SNV T317M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263187 chr10 76788576 76788576 C T rs764565963 KAT6B Nonsynonymous SNV P551S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.011 263188 chr11 129724537 129724537 C T rs753554084 TMEM45B Nonsynonymous SNV P71S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 263189 chrX 117731472 117731472 T A DOCK11 Nonsynonymous SNV L781H 0 0 0 2 0 0 0.005 0 0 0 0 1 28.8 263190 chr11 134018474 134018474 G C rs374187365 JAM3 Nonsynonymous SNV V198L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 263191 chr9 139270849 139270849 G A rs778650500 SNAPC4 Nonsynonymous SNV R1457W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 263192 chr10 126395229 126395229 T C rs139691871 FAM53B Synonymous SNV A18A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.265 263193 chr1 46106068 46106068 C T rs748494845 GPBP1L1 Synonymous SNV P186P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.19 263194 chr11 119213588 119213588 G A rs767672258 MFRP Nonsynonymous SNV T417M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 263195 chr1 1007608 1007608 G A rs575113059 RNF223 Synonymous SNV P113P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.794 263196 chr1 1268372 1268372 C T rs770972304 TAS1R3 Synonymous SNV N449N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.97 263197 chr10 99696089 99696089 G T rs540857003 CRTAC1 Synonymous SNV R87R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.73 263198 chr11 36522917 36522917 A G rs766198008 TRAF6 Nonsynonymous SNV M50T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.134 263199 chr11 434061 434061 C G ANO9 Nonsynonymous SNV G15A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.77 263200 chr1 77509959 77509959 G C ST6GALNAC5 Nonsynonymous SNV G111A 0 0 0.003 0 0 0 0 1 0 0 0 0 25 263201 chr1 12309291 12309291 A C rs116415833 VPS13D Nonsynonymous SNV Q153H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.8 263202 chr11 1093759 1093759 C G rs765730473 MUC2 Nonsynonymous SNV Q1860E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 263203 chr11 111597775 111597775 C T PPP2R1B Nonsynonymous SNV V576M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 22.4 263204 chr11 113269901 113269901 C T ANKK1 Stop gain Q404X 0.003 0 0 0 4 0 0 0 0 0 0 0 36 263205 chr9 95279970 95279970 A G rs139951554 ECM2 Synonymous SNV T160T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.8 263206 chr1 94639446 94639446 A G rs755542411 ARHGAP29 Synonymous SNV G1191G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.959 263207 chrX 10106817 10106817 G A WWC3 Synonymous SNV A975A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 263208 chr11 118765108 118765108 G A rs113967672 CXCR5 Synonymous SNV A240A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.538 263209 chr11 120300523 120300523 G A rs759368594 ARHGEF12 Nonsynonymous SNV A237T 0.003 0 0 0 4 0 0 0 0 0 0 0 22.9 263210 chr1 111059971 111059971 A G KCNA10 Nonsynonymous SNV I480T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 263211 chr11 3660253 3660253 C G rs550234024 ART5 Nonsynonymous SNV R199P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.27 263212 chr20 25655936 25655936 T C rs150351850 ZNF337 Nonsynonymous SNV Q663R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.74 263213 chr20 2797501 2797501 C T TMEM239 Nonsynonymous SNV R101C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 263214 chr20 2840929 2840929 G A rs2297048 VPS16 Synonymous SNV E95E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.934 263215 chr20 3008448 3008448 C T rs6133005 PTPRA Synonymous SNV C618C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 263216 chr11 45924281 45924281 G A rs769974831 MAPK8IP1 Synonymous SNV T321T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.604 263217 chr6 46661334 46661334 T C rs759001689 TDRD6 Synonymous SNV A1823A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.353 263218 chr20 32636993 32636993 A C rs563394803 MIR4755 0 0 0.007 0 0 0 0 2 0 0 0 0 0.782 263219 chr20 3275220 3275220 G A rs757045966 C20orf194 Nonsynonymous SNV R692W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.95 263220 chr6 52938297 52938297 C T rs1035415962 FBXO9 Stop gain R47X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 263221 chr20 37659385 37659385 C T rs35849074 DHX35 Nonsynonymous SNV A610V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 263222 chr20 43836779 43836779 C T rs2233885 SEMG1 Stop gain R281X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263223 chr1 152883141 152883141 G A rs374818807 IVL Nonsynonymous SNV E290K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 263224 chr20 44507214 44507214 C T rs141779185 ZSWIM3 Nonsynonymous SNV R673C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.126 263225 chrY 6938766 6938766 G A rs376123219 TBL1Y Nonsynonymous SNV G199E 0.002 0 0 0 2 0 0 0 1 0 0 0 25.2 263226 chr20 44751363 44751363 C T rs11569321 CD40 Nonsynonymous SNV S124L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.083 263227 chr20 44756823 44756823 C T rs7273698 CD40 Nonsynonymous SNV R182W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.33 263228 chr10 99683122 99683122 G A rs140424345 CRTAC1 Nonsynonymous SNV R153C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 263229 chr20 47682990 47682990 G A CSE1L Nonsynonymous SNV S140N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 263230 chr11 101359724 101359724 C T rs773420331 TRPC6 Nonsynonymous SNV V413I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 263231 chr20 49434771 49434771 C T rs201932513 BCAS4 Synonymous SNV I68I 0 0 0.003 0 0 0 0 1 0 0 0 0 21 263232 chr20 49507972 49507972 G A rs142247083 ADNP Synonymous SNV A1093A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.245 263233 chr1 156565284 156565284 A G rs938343699 GPATCH4 Synonymous SNV N283N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.268 263234 chr1 157062817 157062817 G A rs144579601 ETV3L Nonsynonymous SNV P237L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.847 263235 chr10 112581294 112581294 G T RBM20 Nonsynonymous SNV A973S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.51 263236 chr20 58330364 58330364 G T rs140524778 PHACTR3 Synonymous SNV T159T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.77 263237 chr20 5843983 5843983 C G rs138963473 SHLD1 Synonymous SNV S164S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.048 263238 chr1 53676051 53676051 C T CPT2 Synonymous SNV F235F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.87 263239 chr20 5963717 5963717 G A MCM8 Nonsynonymous SNV V500I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 263240 chr7 100087164 100087164 A G rs768077834 NYAP1 Nonsynonymous SNV H607R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 263241 chr20 60907710 60907710 C T rs755003891 LAMA5 Nonsynonymous SNV A1116T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 263242 chr11 101981753 101981753 C T YAP1 Synonymous SNV R58R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.15 263243 chr1 167825672 167825672 C T rs146639825 ADCY10 Synonymous SNV V481V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.97 263244 chr20 62421667 62421667 G C rs778259313 ZBTB46 Synonymous SNV A148A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 263245 chr1 66067532 66067532 A G rs937591370 LEPR Nonsynonymous SNV N431S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.48 263246 chr11 45946208 45946208 C A LARGE2 Nonsynonymous SNV A215D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 263247 chr1 169773374 169773374 G A rs367824430 C1orf112 Nonsynonymous SNV M22I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 263248 chr11 62189843 62189843 T C SCGB1A1 Nonsynonymous SNV L69P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.49 263249 chr21 31768555 31768555 T A KRTAP13-1 Nonsynonymous SNV S51T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.94 263250 chr1 84867741 84867741 T C rs72943980 DNASE2B Nonsynonymous SNV Y95H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 263251 chr1 85331112 85331112 C T rs35745543 LPAR3 Nonsynonymous SNV R231Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 263252 chr1 85499911 85499911 G A rs769510387 MCOLN3 Synonymous SNV S84S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.17 263253 chr21 33068508 33068508 T A SCAF4 Nonsynonymous SNV Q314L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 263254 chr21 33765169 33765169 G A rs750011419 URB1 Synonymous SNV S17S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 263255 chr11 48239033 48239033 G C OR4B1 Nonsynonymous SNV R224S 0.004 0 0 0 5 0 0 0 0 0 0 0 23.5 263256 chr11 117063308 117063308 G A SIDT2 Nonsynonymous SNV R667H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 263257 chr1 185984393 185984393 C A rs142686709 HMCN1 Nonsynonymous SNV A1578D 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 23.1 263258 chr10 15170455 15170455 T C NMT2 Nonsynonymous SNV Y298C 0 0.005 0 0 0 2 0 0 0 0 0 0 26.3 263259 chr21 40686279 40686279 G C rs541550737 BRWD1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.6 263260 chr7 107330648 107330648 C T rs111033220 SLC26A4 Nonsynonymous SNV T410M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 33 263261 chr7 116339642 116339642 G T rs55985569 MET Nonsynonymous SNV E168D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.089 263262 chr11 67200512 67200512 A G RPS6KB2 Nonsynonymous SNV M236V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 263263 chr11 67223140 67223140 C T rs147329388 CABP4 Synonymous SNV G82G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 263264 chr11 1255848 1255848 C T MUC5B Synonymous SNV P856P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.08 263265 chr1 110737269 110737269 G A rs62636568 SLC6A17 Synonymous SNV P456P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 263266 chr11 6898704 6898704 T C rs141484481 OR10A4 Nonsynonymous SNV S276P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263267 chr22 18138483 18138483 G A rs144712899 BCL2L13 Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 263268 chr11 70331880 70331880 C T rs549362182 SHANK2 Synonymous SNV T918T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 263269 chr11 71727253 71727253 G A NUMA1 Synonymous SNV L432L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.175 263270 chr11 129743851 129743851 G A rs1028713204 NFRKB Nonsynonymous SNV S805F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 263271 chr11 55681315 55681315 A T OR5W2 Synonymous SNV V248V 0.004 0 0 0 5 0 0 0 0 0 0 0 0.078 263272 chr22 21356471 21356471 - CGGGG rs375815986 THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 263273 chr22 21996812 21996812 G A rs1014998165 SDF2L1 Nonsynonymous SNV G63S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263274 chr7 140159558 140159558 C A rs764816106 MKRN1 Nonsynonymous SNV D165Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 263275 chr11 76901123 76901123 G A rs368705036 MYO7A Nonsynonymous SNV R1230H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 263276 chr11 63933377 63933377 G C rs900802123 MACROD1 Nonsynonymous SNV H30Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.072 263277 chr22 26176096 26176096 C T rs376333075 MYO18B Synonymous SNV A714A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.852 263278 chr1 151315328 151315328 T C rs372560621 RFX5 Synonymous SNV G395G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.203 263279 chr11 64674761 64674761 A G ATG2A Nonsynonymous SNV L925P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 263280 chr11 9047354 9047354 G A rs766859413 SCUBE2 Nonsynonymous SNV R696C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 263281 chr22 31137171 31137171 C T rs376157573 OSBP2 Nonsynonymous SNV T223M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 263282 chr11 56380779 56380779 G T rs745610743 OR5M1 Nonsynonymous SNV S67Y 0.004 0 0 0 5 0 0 0 0 0 0 0 25.1 263283 chr11 3060507 3060507 G A rs149387799 CARS1 Nonsynonymous SNV R107W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 263284 chr1 157557684 157557684 C T rs752639258 FCRL4 Nonsynonymous SNV R178K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 263285 chr11 67259513 67259513 G A PITPNM1 Synonymous SNV S1241S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.042 263286 chr22 40807753 40807753 G A rs575546439 MRTFA Nonsynonymous SNV R813C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 263287 chr11 44074299 44074299 T C ACCSL Nonsynonymous SNV L287P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 263288 chr1 161047274 161047274 G T NECTIN4 Nonsynonymous SNV D233E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.67 263289 chr11 46817295 46817295 A G rs755823448 CKAP5 Nonsynonymous SNV I500T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.05 263290 chr11 47176743 47176743 G A rs773585953 C11orf49 Nonsynonymous SNV D119N 0 0 0 1 0 0 0.003 0 0 0 0 0 31 263291 chr12 111963053 111963053 G T rs773662523 ATXN2 Synonymous SNV P84P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.28 263292 chr12 112459985 112459985 T G ERP29 Nonsynonymous SNV S105R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 263293 chr22 50617399 50617399 C A rs541382491 PANX2 Nonsynonymous SNV T576K 0.003 0 0.003 0 3 0 0 1 0 0 0 0 19.1 263294 chr22 50900007 50900007 G A rs182040598 SBF1 Synonymous SNV A929A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.03 263295 chr11 48347143 48347143 G A rs753422717 OR4C3 Synonymous SNV T190T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.296 263296 chr11 7982583 7982583 G A rs138681119 NLRP10 Synonymous SNV T192T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.608 263297 chr2 100210742 100210742 C T rs772469465 AFF3 Nonsynonymous SNV A486T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 263298 chr11 64416248 64416248 C T rs749967463 NRXN2 Nonsynonymous SNV D1041N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 263299 chr2 102959578 102959578 A G IL1RL1 Synonymous SNV G138G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.57 263300 chr2 17697805 17697805 A T rs140288497 RAD51AP2 Synonymous SNV T626T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 263301 chr1 180165937 180165937 G A rs1057493686 QSOX1 Nonsynonymous SNV R670H 0 0 0 1 0 0 0.003 0 0 0 0 0 11.56 263302 chr12 123265726 123265726 G A rs201788426 CCDC62 Nonsynonymous SNV R82K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 263303 chr2 20212206 20212206 A C rs3816644 MATN3 Nonsynonymous SNV S63A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign 2.933 263304 chr2 109745739 109745739 C T SH3RF3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 263305 chr11 64533297 64533297 T C rs759094836 SF1 Nonsynonymous SNV Q612R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 263306 chr11 9809202 9809204 TTT - rs750958357 SBF2 K1672del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 263307 chr2 119915825 119915825 G T rs780507498 C1QL2 Synonymous SNV I7I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.16 263308 chr11 64846935 64846935 C T rs148016184 CDCA5 Nonsynonymous SNV E190K 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 23.8 263309 chr11 64896179 64896179 G A rs562685230 SYVN1 Nonsynonymous SNV R534W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 263310 chr11 65270339 65270339 T C MALAT1, TALAM1 0.003 0 0 0 3 0 0 0 0 0 0 0 9.153 263311 chr2 131103937 131103937 A G rs146873501 IMP4 Nonsynonymous SNV I173V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 263312 chr1 201180138 201180138 G T IGFN1 Synonymous SNV G2039G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.239 263313 chr2 133541927 133541927 G A rs1034456222 NCKAP5 Synonymous SNV P819P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.469 263314 chr11 1092321 1092321 C T rs374411950 MUC2 Synonymous SNV Y1380Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.71 263315 chr12 109306311 109306311 C T rs566794625 SVOP Synonymous SNV X496X 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 263316 chr12 1940524 1940524 T C rs138572937 LRTM2 Nonsynonymous SNV L164P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.255 263317 chr12 109719314 109719314 G T rs201494583 FOXN4 Nonsynonymous SNV P398T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.5 263318 chr12 110941651 110941651 C G rs80248684 RAD9B Nonsynonymous SNV D29E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.41 263319 chr1 205273253 205273253 G A rs145491909 NUAK2 Synonymous SNV L404L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.062 263320 chr11 118210491 118210491 C A rs780577929 CD3D Synonymous SNV G135G 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 12.48 263321 chr12 112230583 112230583 G A rs752737734 ALDH2 Synonymous SNV P313P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.26 263322 chr12 112696920 112696920 C A rs776476260 HECTD4 Nonsynonymous SNV S1008I 0 0.003 0 0 0 1 0 0 0 0 0 0 33 263323 chr2 166771850 166771850 G A TTC21B Stop gain Q667X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 38 263324 chr2 167143100 167143100 T C rs200823610 SCN9A Nonsynonymous SNV I450V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 3.49 263325 chr1 209956596 209956596 G A rs760620266 C1orf74 Synonymous SNV S128S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.872 263326 chr7 96747157 96747157 G A rs757828353 SDHAF3 Nonsynonymous SNV R41K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 263327 chr1 216348614 216348614 G T USH2A Nonsynonymous SNV P1536Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 263328 chr11 85438010 85438010 G A SYTL2 Synonymous SNV S797S 0.003 0 0 0 3 0 0 0 0 0 0 0 21.4 263329 chr12 42707768 42707768 A G rs539807977 ZCRB1 Synonymous SNV Y118Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.955 263330 chr2 179435097 179435097 C A rs374003257 TTN Synonymous SNV V16189V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.92 263331 chr12 124311336 124311336 C T rs771494436 DNAH10 Nonsynonymous SNV R1310W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 263332 chr2 179644055 179644055 A C rs368702156 TTN Synonymous SNV A1242A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.012 263333 chr11 57569639 57569639 G A rs763306444 CTNND1 Nonsynonymous SNV R363H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 263334 chr12 13103294 13103294 T G GPRC5D Nonsynonymous SNV T9P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.926 263335 chr12 132403786 132403786 G A rs868830236 ULK1 Synonymous SNV L847L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 263336 chr12 103696124 103696124 G A rs200329790 C12orf42 Nonsynonymous SNV P282L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 263337 chr12 133353341 133353341 A G rs201885321 GOLGA3 Nonsynonymous SNV M1286T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 263338 chr12 108096762 108096762 T C rs141450163 PWP1 Nonsynonymous SNV M224T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 263339 chr2 204801578 204801578 G C rs776057192 ICOS Nonsynonymous SNV R14P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 263340 chr11 94351137 94351137 T C rs200109578 PIWIL4 Nonsynonymous SNV Y678H 0.001 0 0 0 1 0 0 0 0 0 0 0 13 263341 chr12 107371507 107371507 A T rs541914788 MTERF2 Nonsynonymous SNV I329K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 263342 chr12 53242522 53242522 G A rs367893585 KRT78 Nonsynonymous SNV R65W 0 0 0 1 0 0 0.003 0 0 0 0 0 7.109 263343 chr12 1005350 1005350 T C rs778453551 WNK1 Synonymous SNV S1651S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.282 263344 chr11 61548632 61548632 G A rs147865358 MYRF Synonymous SNV S830S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 0.841 263345 chr2 209212591 209212591 G C rs751508692 PIKFYVE Nonsynonymous SNV A1740P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 263346 chr11 62288071 62288071 C G rs960149842 AHNAK Nonsynonymous SNV K4606N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 263347 chr1 240964766 240964766 C T rs145387487 RGS7 Nonsynonymous SNV A468T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.01 263348 chr12 54394368 54394368 A C rs765017212 HOXC9 Synonymous SNV P132P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 263349 chr11 62549671 62549671 G A TAF6L Synonymous SNV L231L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.58 263350 chr11 62571308 62571308 T G rs369364496 NXF1 Synonymous SNV G57G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.831 263351 chr2 216259262 216259262 G T rs78334856 FN1 Nonsynonymous SNV T1262N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 263352 chr12 55820692 55820692 A G rs143111251 OR6C76 Nonsynonymous SNV I219V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 263353 chr12 120884039 120884039 T G TRIAP1 Nonsynonymous SNV Q46P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 263354 chr12 57598195 57598195 C T LRP1 Nonsynonymous SNV R3652W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 263355 chr2 133540564 133540564 G A rs535070542 NCKAP5 Nonsynonymous SNV R1274C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 263356 chr12 122294263 122294263 C T rs139901326 HPD Synonymous SNV A97A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 263357 chr12 122413210 122413210 G C rs201027242 WDR66 Synonymous SNV L944L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.942 263358 chr2 228883659 228883659 T A rs145515538 SPHKAP Synonymous SNV G637G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 263359 chr12 70133647 70133647 A G rs140573154 RAB3IP Synonymous SNV K7K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.374 263360 chr12 13142230 13142230 C A rs141002469 HEBP1 Synonymous SNV A66A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.14 263361 chr12 122255370 122255370 G A SETD1B Synonymous SNV A1024A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.127 263362 chr11 6648317 6648317 T C rs200970279 DCHS1 Nonsynonymous SNV T1985A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.35 263363 chr12 133454236 133454236 G A rs775199616 CHFR Synonymous SNV C46C 0.003 0 0 0 3 0 0 0 0 0 0 0 11.59 263364 chr12 82750837 82750837 C A CCDC59 Synonymous SNV P122P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.71 263365 chr2 239140352 239140352 - GGCCTCCGGGCCGCGGTGGCCTCCGGGCCGCGGTGGCCTCCGGGCCGCGGC LOC643387 0 0 0.007 0 0 0 0 2 0 0 1 0 263366 chr2 25972785 25972785 T C rs200858310 ASXL2 Nonsynonymous SNV Q287R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.002 263367 chr2 26179290 26179290 G A rs147154573 KIF3C Synonymous SNV I523I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.68 263368 chr2 241405611 241405611 G A GPC1 Synonymous SNV Q527Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.411 263369 chr2 241829510 241829510 A G MAB21L4 Nonsynonymous SNV L269P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 263370 chr2 24286047 24286047 G A rs376185675 FKBP1B Synonymous SNV L75L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.774 263371 chr2 25972602 25972602 C T rs200842793 ASXL2 Nonsynonymous SNV G348E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.3 263372 chr11 498894 498894 G C RNH1 Nonsynonymous SNV D218E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.612 263373 chr2 26696311 26696311 T C OTOF Nonsynonymous SNV N488S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 263374 chr13 100201442 100201442 A G TM9SF2 Nonsynonymous SNV T432A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263375 chr12 32860336 32860336 A G DNM1L Nonsynonymous SNV T96A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.52 263376 chr12 57136780 57136780 C T rs368113893 PRIM1 Nonsynonymous SNV V247I 0.004 0.003 0 0 5 1 0 0 0 0 0 0 18.26 263377 chr2 29225579 29225579 C T rs201309222 TOGARAM2 Nonsynonymous SNV P202L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.81 263378 chr12 234858 234858 C T rs377259498 IQSEC3 Nonsynonymous SNV A228V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 263379 chr13 115089811 115089811 C T rs148563449 CHAMP1 Nonsynonymous SNV P165L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.9 263380 chr13 115089868 115089870 CTC - rs782253043 CHAMP1 P185del 0 0 0 1 0 0 0.003 0 0 0 0 0 263381 chr2 60688265 60688265 C T rs377726544 BCL11A Synonymous SNV S560S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 9.792 263382 chr2 45620237 45620237 C T rs199990809 SRBD1 Nonsynonymous SNV E849K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 263383 chr12 69125418 69125418 A G rs757324677 NUP107 Synonymous SNV V610V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 263384 chr2 49190058 49190058 G A rs780079274 FSHR Synonymous SNV R608R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.935 263385 chr12 49494369 49494369 C T rs369461902 LMBR1L Synonymous SNV R323R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.08 263386 chr12 50045737 50045737 G A rs372002585 FMNL3 Nonsynonymous SNV P477S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 263387 chr12 72314557 72314557 G C rs376818317 TBC1D15 Nonsynonymous SNV C549S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 263388 chr2 71789000 71789000 G A rs138654170 DYSF Nonsynonymous SNV G747S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.591 263389 chr12 52629089 52629089 G C KRT7 Nonsynonymous SNV G159R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 263390 chr2 74642743 74642743 G A rs141006442 C2orf81 Synonymous SNV D92D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.734 263391 chr12 103288590 103288590 G A rs62514903 PAH Nonsynonymous SNV T92I 0 0 0 1 0 0 0.003 0 0 0 0 0 not provided 6.247 263392 chr2 71816729 71816729 G A rs144634077 DYSF Nonsynonymous SNV V1105M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.64 263393 chr12 107083133 107083133 C T RFX4 Synonymous SNV N126N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.39 263394 chr12 107486626 107486626 G A rs762495960 CRY1 Synonymous SNV D38D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.663 263395 chr12 10854713 10854713 C T rs145744944 YBX3 Nonsynonymous SNV R231Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 263396 chr12 93968685 93968685 - AA SOCS2 Frameshift insertion I110Kfs*17 0 0.003 0 0 0 1 0 0 0 0 0 0 263397 chr2 88405916 88405916 C T rs767603113 SMYD1 Nonsynonymous SNV R339W 0 0 0.007 0 0 0 0 2 0 0 0 0 32 263398 chr2 97530776 97530776 G A rs147678977 SEMA4C Synonymous SNV F237F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 263399 chr2 102642708 102642708 C T rs767276614 IL1R2 Synonymous SNV V341V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.05 263400 chr12 113733862 113733862 G A rs566314380 TPCN1 Nonsynonymous SNV R743H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 263401 chr2 228882356 228882356 C T SPHKAP Nonsynonymous SNV G1072S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 263402 chr12 114804125 114804125 C T rs147977741 TBX5 Nonsynonymous SNV S226N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 21.7 263403 chr3 100547267 100547267 G A ABI3BP Nonsynonymous SNV P744S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 263404 chr12 53687257 53687257 A C ESPL1 X2121S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 263405 chr12 57502001 57502001 C T rs771572649 STAT6 Nonsynonymous SNV D21N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 263406 chr3 107647179 107647179 T C LINC00636 0 0 0.003 0 0 0 0 1 0 0 0 0 6.004 263407 chr12 57919154 57919154 T C rs183947015 MBD6 Nonsynonymous SNV F135L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.651 263408 chr2 113310346 113310346 A C rs35318690 POLR1B Nonsynonymous SNV N160H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.27 263409 chr14 102916203 102916203 A C TECPR2 Nonsynonymous SNV I1105L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.168 263410 chr2 113958853 113958853 A G rs34048507 PSD4 Nonsynonymous SNV K1011R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.94 263411 chr9 129870874 129870874 C T rs149981584 ANGPTL2 Nonsynonymous SNV R46Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 263412 chr9 130439029 130439029 C T rs35099393 STXBP1 Synonymous SNV T416T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.21 263413 chr14 105206991 105206991 G A rs149832793 ADSS1 Nonsynonymous SNV R177Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 263414 chr14 105350397 105350397 C T rs373943144 CEP170B Synonymous SNV S357S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.788 263415 chr9 130940033 130940033 C T rs371013809 CIZ1 Nonsynonymous SNV A443T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 263416 chr13 23908453 23908453 A G rs137905181 SACS Nonsynonymous SNV F3041L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 26.7 263417 chr13 25887836 25887836 C G rs150394051 NUP58 Nonsynonymous SNV A162G 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 20.7 263418 chr12 132199437 132199437 C T rs149632796 SFSWAP Synonymous SNV Y153Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.396 263419 chr12 132426301 132426301 A C PUS1 Synonymous SNV R309R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.117 263420 chr12 132511987 132511987 G A rs146849627 EP400 Nonsynonymous SNV V1674I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.09 263421 chr14 20978831 20978831 G A rs574467521 RNASE10 Synonymous SNV T67T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.503 263422 chr14 21558768 21558768 G A rs147595576 ZNF219 Nonsynonymous SNV P699L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 263423 chr12 14577412 14577412 A T rs751474951 ATF7IP Nonsynonymous SNV D188V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 263424 chr14 21992784 21992784 C T rs138804955 SALL2 Nonsynonymous SNV G358R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 263425 chr12 75601540 75601540 C A rs7311122 KCNC2 Nonsynonymous SNV G75V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.43 263426 chr12 15068547 15068547 G A ERP27 Nonsynonymous SNV S116F 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 263427 chr3 127390350 127390350 C T PODXL2 Nonsynonymous SNV T500M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 263428 chr3 128060143 128060143 G A rs140543627 EEFSEC Nonsynonymous SNV R285Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263429 chr14 24788316 24788316 G A rs61741640 ADCY4 Nonsynonymous SNV R982C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 263430 chr3 131080961 131080961 C T rs35487488 NUDT16P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.928 263431 chr3 131081171 131081171 T C rs6779782 NUDT16P1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.742 263432 chr3 131081192 131081192 T C rs2241560 NUDT16P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.322 263433 chr12 26812098 26812098 C T rs199523133 ITPR2 Nonsynonymous SNV A612T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 263434 chr2 171634176 171634176 C T rs758931309 ERICH2 Synonymous SNV N203N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.05 263435 chr13 76423412 76423412 C G LMO7 Nonsynonymous SNV P1123A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 263436 chr14 29236735 29236735 C T FOXG1 Nonsynonymous SNV P84S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 263437 chr12 93192813 93192813 A G rs200343917 EEA1 Nonsynonymous SNV I941T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.216 263438 chr2 179457293 179457293 C T rs910964285 TTN Synonymous SNV V10748V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.79 263439 chr2 179598426 179598426 A C TTN Synonymous SNV V3986V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.48 263440 chr13 111109499 111109540 TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC - COL4A2-AS2 G178_A191del 0.002 0 0 0 2 0 0 0 1 0 0 0 263441 chr14 105223032 105223032 C T rs536091211 SIVA1 Synonymous SNV C70C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 263442 chr2 187626901 187626901 A G rs375280066 FAM171B Nonsynonymous SNV Q611R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.9 263443 chr14 57857894 57857894 C G NAA30 Synonymous SNV R73R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.206 263444 chr2 202010127 202010127 A G rs746592349 CFLAR Synonymous SNV Q115Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.015 263445 chr14 62541943 62541943 A G rs200718503 SYT16 Nonsynonymous SNV E95G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.19 263446 chr14 22038134 22038134 C T rs142649226 OR10G3 Nonsynonymous SNV V248M 0 0.005 0 0 0 2 0 0 0 0 0 0 20.7 263447 chr13 43491676 43491676 C A rs201357180 EPSTI1 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 263448 chr3 183368990 183368990 T C rs201498239 KLHL24 Synonymous SNV Y282Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 263449 chr13 45563538 45563538 T C rs374811062 NUFIP1 Nonsynonymous SNV I12V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 263450 chr13 52548898 52548898 G A ATP7B Nonsynonymous SNV T153I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 263451 chr2 217279768 217279768 G A rs11555797 SMARCAL1 Nonsynonymous SNV R114H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 12.42 263452 chr13 99508165 99508165 T C DOCK9 Nonsynonymous SNV N1285S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 263453 chr2 220113193 220113193 C T rs35454203 STK16 Nonsynonymous SNV P245L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 25.2 263454 chr14 88411938 88411938 G A rs201055535 GALC Synonymous SNV A520A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.729 263455 chr14 103059299 103059299 T G rs1004496269 RCOR1 Nonsynonymous SNV S26A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.524 263456 chr2 223158842 223158842 C T rs199808040 PAX3 Stop gain W210X 0 0 0 1 0 0 0.003 0 0 0 0 0 8.13 263457 chr14 51448766 51448766 A G TRIM9 Synonymous SNV N553N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 263458 chr3 36896938 36896938 C G rs774941449 TRANK1 Nonsynonymous SNV R1381S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 263459 chr3 37574893 37574893 C T ITGA9 Nonsynonymous SNV P488S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 263460 chr14 105353411 105353411 G A rs199921376 CEP170B Synonymous SNV P875P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.817 263461 chr3 383613 383613 A T CHL1 Nonsynonymous SNV Q176L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 263462 chr3 39151553 39151553 G A rs140429444 TTC21A Nonsynonymous SNV S64N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.203 263463 chr14 96703469 96703469 A G rs751935351 BDKRB2 Nonsynonymous SNV M9V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 263464 chr3 39226437 39226437 G A rs61742554 XIRP1 Synonymous SNV A183A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.12 263465 chr3 39229285 39229285 C T rs34121641 XIRP1 Nonsynonymous SNV R551Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 31 263466 chr3 44491058 44491058 C T ZNF445 Nonsynonymous SNV G281D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 263467 chr15 23891523 23891564 GGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACC - MAGEL2 P449_P462del 0 0 0 1 0 0 0.003 0 0 0 0 0 263468 chr14 105405592 105405592 G C rs901940455 AHNAK2 Nonsynonymous SNV P5299R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 263469 chr2 234737678 234737678 T C rs754103260 MROH2A Nonsynonymous SNV F1471S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 263470 chr14 21990212 21990212 G A rs368347412 SALL2 Nonsynonymous SNV T886I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.224 263471 chr12 113400602 113400602 G A rs530121218 OAS3 Nonsynonymous SNV G660E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.016 263472 chr12 113557179 113557179 G T rs773168362 RASAL1 Nonsynonymous SNV S166R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.1 263473 chr3 46944132 46944132 A G PTH1R Nonsynonymous SNV Y443C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 263474 chr3 47281233 47281233 A T rs146414099 KIF9-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 1.364 263475 chr3 49053505 49053505 C T DALRD3 Synonymous SNV L448L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 263476 chr14 74393823 74393823 A G rs902102758 ZNF410 Nonsynonymous SNV Y275C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.304 263477 chr12 122481865 122481865 C T rs141114357 BCL7A Synonymous SNV P115P 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.43 263478 chr14 23829982 23829982 G A rs373577270 EFS Nonsynonymous SNV R27C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 263479 chr12 129180448 129180448 G A rs573672723 TMEM132C Nonsynonymous SNV A577T 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 26.9 263480 chr3 56785372 56785372 T C rs757391138 ARHGEF3 Nonsynonymous SNV N170S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 263481 chr3 11744448 11744448 T C rs777919793 VGLL4 Nonsynonymous SNV K21E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 263482 chr14 31354975 31354975 A - rs779113407 LOC100506071 0.003 0 0.003 0 3 0 0 1 0 0 0 0 263483 chr12 133425307 133425307 G A rs201350082 CHFR Nonsynonymous SNV A419V 0.003 0.008 0 0 3 3 0 0 0 0 0 0 19.68 263484 chr3 73433489 73433489 A G PDZRN3 Nonsynonymous SNV I441T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 263485 chr3 73433927 73433927 G C PDZRN3 Nonsynonymous SNV S295C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 263486 chr3 8787433 8787433 C T rs139985460 CAV3 Synonymous SNV I112I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.92 263487 chr15 48756163 48756163 G A rs141925790 FBN1 Synonymous SNV T1666T 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.97 263488 chr15 50223504 50223504 C T rs140925871 ATP8B4 Nonsynonymous SNV G485E 0 0 0 2 0 0 0.005 0 0 0 0 0 28.5 263489 chr15 52545650 52545650 A C MYO5C Nonsynonymous SNV V467G 0 0 0 2 0 0 0.005 0 0 0 0 0 27.9 263490 chr14 60018117 60018117 T C rs776360902 CCDC175 Nonsynonymous SNV I331V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 263491 chr3 31617936 31617936 A G STT3B Synonymous SNV E121E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.5 263492 chr3 32860343 32860343 G A rs200612822 TRIM71 Synonymous SNV G257G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.928 263493 chr14 64522781 64522781 T C SYNE2 Synonymous SNV N3288N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.299 263494 chr13 20412959 20412959 T C rs748149658 ZMYM5 Synonymous SNV L251L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.18 263495 chr14 71445276 71445276 C T rs779154623 PCNX1 Nonsynonymous SNV S741F 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 263496 chr10 115480812 115480812 - A rs751341575 CASP7 Frameshift insertion M20Nfs*21 0 0.003 0 0 0 1 0 0 0 0 0 0 263497 chr15 69672256 69672256 G A rs1020138881 PAQR5 Nonsynonymous SNV R29H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 263498 chr4 125590575 125590575 G A rs778120664 ANKRD50 Nonsynonymous SNV A1107V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 263499 chr15 71534999 71534999 G A rs201535999 THSD4 Nonsynonymous SNV R159H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 263500 chr15 75119054 75119054 A G CPLX3 Nonsynonymous SNV M4V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 263501 chr15 75135365 75135365 C T rs748626370 ULK3 Nonsynonymous SNV V28M 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 263502 chr4 141484620 141484620 C T UCP1 Synonymous SNV V126V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.87 263503 chr10 126715300 126715300 G C CTBP2 Nonsynonymous SNV S343R 0 0.005 0 0 0 2 0 0 0 0 0 0 24.8 263504 chr12 50616000 50616000 A C LIMA1 Nonsynonymous SNV I145S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.016 263505 chr4 155226252 155226252 G A rs150179829 DCHS2 Stop gain R1798X 0 0 0.007 0 0 0 0 2 0 0 0 0 38 263506 chr12 51386707 51386707 A C rs376488972 SLC11A2 Synonymous SNV V357V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.516 263507 chr15 80467375 80467375 G A rs73481171 FAH Synonymous SNV P285P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.06 263508 chr4 158091771 158091771 C A rs148031091 GLRB Nonsynonymous SNV A462E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.99 263509 chr13 52952414 52952414 A G rs776632278 THSD1 Nonsynonymous SNV I511T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.068 263510 chr4 1742580 1742580 C T rs200631137 TACC3 Nonsynonymous SNV S697F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 263511 chr4 185941905 185941905 C T rs140685417 HELT Synonymous SNV P236P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.76 263512 chr15 90129089 90129089 C T rs147564898 TICRR Nonsynonymous SNV R442W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 263513 chr15 101562637 101562637 A G rs74990541 LRRK1 Synonymous SNV E634E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.479 263514 chr10 17659296 17659296 - CTGC HACD1 Frameshift insertion R15Afs*96 0 0.003 0 0 0 1 0 0 0 0 0 0 263515 chr10 17659299 17659299 A - HACD1 S14Lfs*70 0 0.003 0 0 0 1 0 0 0 0 0 0 263516 chr10 17659300 17659300 G C HACD1 Synonymous SNV G13G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.71 263517 chr3 73673871 73673871 C A PDZRN3 Nonsynonymous SNV V36F 0 0 0 1 0 0 0.003 0 0 0 0 0 31 263518 chr4 22456520 22456520 T C rs542014008 ADGRA3 Nonsynonymous SNV I148V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.302 263519 chr3 97611739 97611739 G A rs752520452 CRYBG3 Synonymous SNV Q2492Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 263520 chr14 104206710 104206710 C T rs199845828 PPP1R13B Synonymous SNV S681S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.74 263521 chr3 98110306 98110306 G A rs73854831 OR5K3 Nonsynonymous SNV G266E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 263522 chr14 104642897 104642897 G T rs370601201 KIF26A Nonsynonymous SNV G1258C 0 0.003 0 2 0 1 0.005 0 0 0 0 0 7.685 263523 chr3 100543762 100543762 G A rs768968074 ABI3BP Nonsynonymous SNV R762C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 263524 chr4 3031086 3031086 G A rs759552478 GRK4 Nonsynonymous SNV E213K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 263525 chr16 11773089 11773089 G T rs139507945 TXNDC11 Nonsynonymous SNV L495M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 263526 chr15 23006778 23006778 T C rs755873819 NIPA2 Nonsynonymous SNV T157A 0.003 0 0 0 4 0 0 0 0 0 0 0 22.6 263527 chr16 13329118 13329118 A G SHISA9 Nonsynonymous SNV Q376R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.8 263528 chr15 42003250 42003250 C T rs749287358 MGA Synonymous SNV Y929Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.792 263529 chr14 20824805 20824805 G A rs780183224 PARP2 Nonsynonymous SNV G429E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 263530 chr15 75500164 75500164 G A rs144091400 C15orf39 Nonsynonymous SNV R592H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.67 263531 chr15 34635897 34635897 T C NUTM1 Nonsynonymous SNV Y22H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 263532 chr15 76634068 76634068 C A ISL2 Nonsynonymous SNV F324L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 263533 chr14 21490275 21490275 C T rs140326965 NDRG2 Nonsynonymous SNV R93Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 263534 chr14 21560421 21560421 C A rs896186659 ZNF219 Nonsynonymous SNV Q345H 0 0 0 1 0 0 0.003 0 0 0 0 0 24 263535 chr15 41814316 41814316 G C rs200842885 RPAP1 Nonsynonymous SNV L959V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 263536 chr4 6303353 6303353 C T rs144993516 WFS1 Nonsynonymous SNV R611C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 263537 chr4 6611627 6611627 G A rs775353969 MAN2B2 Synonymous SNV E652E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.915 263538 chr15 42479524 42479524 G C VPS39 Nonsynonymous SNV A160G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 263539 chr10 5784457 5784457 G T TASOR2 Nonsynonymous SNV D828Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.141 263540 chr3 124896721 124896721 G A rs780279352 SLC12A8 Nonsynonymous SNV A163V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.92 263541 chr15 42978173 42978173 T C rs777438608 STARD9 Nonsynonymous SNV L1466P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 263542 chr4 68784849 68784849 C A rs189222195 TMPRSS11A Nonsynonymous SNV R265L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.664 263543 chr15 90144763 90144763 C T rs367817902 TICRR Nonsynonymous SNV A763V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 263544 chr14 24909400 24909400 A C rs7159891 SDR39U1 Synonymous SNV R175R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.709 263545 chr14 24909436 24909436 G A rs7157920 SDR39U1 Synonymous SNV P163P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.239 263546 chr3 128614177 128614177 T C rs767243207 ACAD9 Nonsynonymous SNV M124T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.34 263547 chr14 32142755 32142755 C T rs781341998 NUBPL Nonsynonymous SNV S67L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 263548 chr15 45467512 45467512 C T rs749051937 SHF Nonsynonymous SNV R251Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 263549 chr4 71555539 71555539 T C rs746085080 UTP3 Nonsynonymous SNV I382T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.221 263550 chr14 50150336 50150336 - CTCAAGTGCAGGAAAC POLE2 Frameshift insertion I48Mfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 263551 chr14 50150338 50150338 - GGTGGTGACACCTCCACTGGGGGAAAGGAACTATAAAAGGGCC POLE2 Frameshift insertion I48Gfs*17 0 0 0 1 0 0 0.003 0 0 0 0 0 263552 chr4 79430136 79430136 A - FRAS1 P3253Hfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 263553 chr3 136665003 136665003 A G NCK1 Nonsynonymous SNV I205V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.909 263554 chr15 65578628 65578628 G T PARP16 Nonsynonymous SNV S46Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.318 263555 chr16 30750406 30750406 A G SRCAP Synonymous SNV P3015P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.946 263556 chr4 8237193 8237193 C A rs767797536 SH3TC1 Nonsynonymous SNV P1030T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 263557 chr16 30913778 30913778 T A CTF1 Nonsynonymous SNV L174H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23 263558 chr16 12798549 12798549 T C rs767019120 CPPED1 Nonsynonymous SNV D216G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 263559 chr4 83971042 83971042 C A COPS4 Synonymous SNV S105S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 263560 chr13 103399194 103399194 T C rs371403759 CCDC168 Nonsynonymous SNV I1285V 0 0.005 0 0 0 2 0 0 0 0 0 0 5.813 263561 chr14 55625283 55625283 A G rs374278216 DLGAP5 Synonymous SNV D610D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.921 263562 chr16 321250 321250 T G RGS11 Nonsynonymous SNV N88H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263563 chr16 15729933 15729933 G C MARF1 Nonsynonymous SNV D137E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 263564 chr3 156877782 156877782 - GTCGTCGTG rs759982653 CCNL1 T37_G38insTTT 0 0 0 1 0 0 0.003 0 0 0 0 0 263565 chr15 76225242 76225242 G A FBXO22 Synonymous SNV K337K 0.003 0.005 0 2 3 2 0.005 0 0 0 0 0 12.13 263566 chr4 955502 955502 T A DGKQ Nonsynonymous SNV E812D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 263567 chr14 64492014 64492014 G A rs941022105 SYNE2 Nonsynonymous SNV D2043N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 263568 chr16 4242609 4242609 C T rs373144625 SRL Nonsynonymous SNV E323K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 263569 chr14 67770249 67770249 A G rs746685563 MPP5 Nonsynonymous SNV H291R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263570 chr16 2025856 2025856 C G TBL3 Synonymous SNV P345P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.796 263571 chr13 29004198 29004198 C T rs145266667 FLT1 Synonymous SNV P365P 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 17.65 263572 chr14 74346845 74346845 A T rs148654530 PTGR2 Nonsynonymous SNV I216L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 263573 chr16 23226700 23226700 C T rs766428702 SCNN1G Synonymous SNV P620P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.44 263574 chr14 74995716 74995716 G A LTBP2 Synonymous SNV S699S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.33 263575 chr14 75078627 75078627 G C rs757559806 LTBP2 Synonymous SNV A7A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.27 263576 chr15 78921742 78921742 G A CHRNB4 Nonsynonymous SNV T302I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 263577 chr4 106576830 106576830 T C rs190046041 ARHGEF38 Nonsynonymous SNV M395T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 263578 chr16 57786475 57786475 G A rs782726902 KATNB1 Synonymous SNV Q222Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.697 263579 chr16 29819057 29819057 G A rs141211357 MAZ Synonymous SNV K317K 0.003 0.005 0 0 3 2 0 0 0 0 0 0 7.302 263580 chr15 86122529 86122529 G A rs139682746 AKAP13 Synonymous SNV K410K 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 Benign 10.39 263581 chr16 67183790 67183790 G A B3GNT9 Nonsynonymous SNV T200I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 263582 chr16 67236322 67236322 C T ELMO3 Synonymous SNV F428F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.32 263583 chr13 46135507 46135507 T C ERICH6B Synonymous SNV T468T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 263584 chr16 67968789 67968789 G T rs546261485 PSMB10 Synonymous SNV G207G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 263585 chr13 49796269 49796270 TC - rs563947699 MLNR Q334Vfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 263586 chr16 31470983 31470983 C T rs750129420 ARMC5 Synonymous SNV A46A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.97 263587 chr4 949634 949634 C T rs371491397 TMEM175 Synonymous SNV D184D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 263588 chr4 1991451 1991451 C T rs150822505 NELFA Synonymous SNV A176A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 18.49 263589 chr13 96579574 96579574 C T rs193238563 UGGT2 Nonsynonymous SNV R665H 0 0.005 0 0 0 2 0 0 0 0 0 0 0.164 263590 chr16 1412305 1412305 C T rs202240106 GNPTG Synonymous SNV H170H 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.177 263591 chr15 91169131 91169131 C G rs575632375 CRTC3 Nonsynonymous SNV D291E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 263592 chr5 145849142 145849142 A G rs201014111 TCERG1 Nonsynonymous SNV M391V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 263593 chr16 4934526 4934526 A T rs375474068 PPL Nonsynonymous SNV V1377E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 263594 chr16 49671956 49671956 G A rs369662414 ZNF423 Synonymous SNV S252S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.295 263595 chr4 5830218 5830218 T C rs1051203638 CRMP1 Nonsynonymous SNV K601E 0 0 0 1 0 0 0.003 0 0 0 0 0 18.85 263596 chr4 6293695 6293695 G A rs150771247 WFS1 Nonsynonymous SNV R228H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 263597 chr14 103599205 103599205 G C TNFAIP2 Nonsynonymous SNV R514P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 263598 chr5 155016 155016 C T rs114486034 PLEKHG4B Synonymous SNV A673A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 263599 chr16 87367725 87367725 C T rs536772322 FBXO31 Synonymous SNV A388A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.68 263600 chr5 161322765 161322765 T C GABRA1 Nonsynonymous SNV I317T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 263601 chr5 16179148 16179148 C A MARCHF11 Nonsynonymous SNV Q179H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 263602 chr11 117352857 117352857 G A rs147554220 DSCAML1 Nonsynonymous SNV H794Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.459 263603 chr5 169435708 169435708 C T rs772417044 DOCK2 Nonsynonymous SNV R1064W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 263604 chr5 170236571 170236571 G A GABRP 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 263605 chr16 70563010 70563010 T C rs149057932 SF3B3 Nonsynonymous SNV I102T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 263606 chr5 176072223 176072223 G A EIF4E1B Synonymous SNV L151L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.694 263607 chr5 176941974 176941974 C T rs143274979 DDX41 Synonymous SNV E121E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 263608 chr15 43512951 43512951 C G EPB42 Nonsynonymous SNV V25L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.254 263609 chr5 179160343 179160363 CGCCCGCCGCCACGGCCCCGG - rs759633589 MAML1 T81_A87del 0 0 0.007 0 0 0 0 2 0 0 0 0 263610 chr5 179286069 179286069 G T rs558744907 LOC100996419 0 0 0.014 0 0 0 0 4 0 0 0 0 7.623 263611 chr17 11896100 11896100 G A rs750799096 ZNF18 Nonsynonymous SNV A16V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.908 263612 chr16 3640795 3640795 C T rs376877866 SLX4 Synonymous SNV A948A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.19 263613 chr17 17068124 17068124 C T rs762322772 MPRIP Synonymous SNV F1105F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.912 263614 chr17 18164477 18164477 T A MIEF2 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 263615 chr5 35779364 35779364 C A rs756831262 SPEF2 Nonsynonymous SNV P1455T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 263616 chr15 62939562 62939562 C T rs746594719 TLN2 Nonsynonymous SNV T18I 0 0 0 1 0 0 0.003 0 0 0 0 0 33 263617 chr16 4707262 4707262 C T MGRN1 Synonymous SNV S153S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.147 263618 chr17 2598730 2598730 G C rs200277514 CLUH Nonsynonymous SNV L828V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.8 263619 chr15 72118964 72118964 T C rs763542980 MYO9A Nonsynonymous SNV N2535S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 263620 chr17 33328379 33328379 A T LIG3 Nonsynonymous SNV D812V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 263621 chr17 33486439 33486439 T C UNC45B Nonsynonymous SNV M285T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 263622 chr4 114824710 114824710 C T rs181598203 ARSJ Nonsynonymous SNV V174I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 263623 chr16 67263977 67263977 C T rs145161451 FHOD1 Nonsynonymous SNV R1069H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 263624 chr5 78532965 78532965 C A JMY Synonymous SNV A164A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 263625 chr14 72090785 72090785 G A rs113418569 SIPA1L1 Synonymous SNV S550S 0 0.005 0 0 0 2 0 0 0 0 0 0 10.31 263626 chr4 121702358 121702358 A G rs55774575 PRDM5 Synonymous SNV Y430Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.059 263627 chr4 121720883 121720883 A G rs34666716 PRDM5 Synonymous SNV D290D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 7.196 263628 chr16 69973001 69973001 C T rs145470126 WWP2 Synonymous SNV P366P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.56 263629 chr16 84132837 84132837 T C rs141669553 MBTPS1 Nonsynonymous SNV E81G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 263630 chr16 841337 841337 T C rs373409796 CHTF18 Synonymous SNV A357A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.759 263631 chr15 89402129 89402129 G A rs755552903 ACAN Nonsynonymous SNV A2105T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 263632 chr4 148787876 148787876 T C ARHGAP10 Nonsynonymous SNV F204S 0 0 0 2 0 0 0.005 0 0 0 0 0 32 263633 chr5 94620102 94620102 G A rs199518217 MCTP1 Nonsynonymous SNV P60S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 263634 chr16 77246536 77246536 A G rs949648701 SYCE1L Nonsynonymous SNV E175G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.891 263635 chr6 110423198 110423198 G A WASF1 Nonsynonymous SNV P372L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 263636 chr6 112453970 112453970 G A rs138232283 LAMA4 Synonymous SNV F1273F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.28 263637 chr17 39623484 39623484 G A rs149170177 KRT32 Nonsynonymous SNV R32W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 263638 chr16 88502583 88502583 C T rs536725615 ZNF469 Nonsynonymous SNV T2902M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.53 263639 chr17 2235622 2235622 T C rs759027883 TSR1 Nonsynonymous SNV E446G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 263640 chr6 116968684 116968684 T C rs145019610 ZUP1 Nonsynonymous SNV E273G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.3 263641 chr14 96800165 96800165 C T rs759771840 ATG2B Nonsynonymous SNV R356Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 263642 chr6 12120934 12120934 G A rs774716457 HIVEP1 Synonymous SNV P302P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.425 263643 chr16 89390989 89390989 C G rs910996632 LOC100287036 Nonsynonymous SNV A125G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.38 263644 chr4 186559237 186559237 C T rs750691260 SORBS2 Nonsynonymous SNV R301H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 263645 chr6 137814818 137814818 C A rs760366425 OLIG3 Nonsynonymous SNV V164L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 263646 chr17 46628476 46628476 G A HOXB3 Synonymous SNV G172G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.27 263647 chr17 46700352 46700352 G A rs150997786 HOXB9 Synonymous SNV L221L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 7.839 263648 chr6 151198932 151198932 T C rs146351770 MTHFD1L Synonymous SNV I129I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.691 263649 chr17 1386183 1386183 C T rs148694544 MYO1C Nonsynonymous SNV R173Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 15.02 263650 chr5 5461039 5461039 - TTC rs535039640 ICE1 S533_P534insS 0 0 0 2 0 0 0.005 0 0 0 0 0 263651 chr5 5463788 5463788 C T rs374020547 ICE1 Synonymous SNV D1447D 0 0 0 2 0 0 0.005 0 0 0 0 0 10.38 263652 chr6 152847288 152847288 T C rs746566831 SYNE1 Nonsynonymous SNV D51G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 263653 chr16 23360139 23360139 C A rs774946342 SCNN1B Synonymous SNV T73T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.22 263654 chr5 11082893 11082893 G A rs777152207 CTNND2 Synonymous SNV L564L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.12 263655 chr16 23391881 23391881 G A SCNN1B Nonsynonymous SNV S561N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.99 263656 chr17 18024993 18024993 C G rs369279423 MYO15A Nonsynonymous SNV P960R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 263657 chr17 18030436 18030436 G A rs199511042 MYO15A Nonsynonymous SNV R1330H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.8 263658 chr17 18167206 18167206 C T rs774954964 MIEF2 Nonsynonymous SNV S140L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 263659 chr5 31318036 31318036 A G CDH6 Synonymous SNV K629K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 263660 chr5 32712284 32712284 A C NPR3 Synonymous SNV P134P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 263661 chr17 182990 182990 A G rs1129995 LOC100506388 0.002 0 0 0 2 0 0 0 0 0 0 0 0.526 263662 chr6 160201104 160201104 C T rs200792657 TCP1 Synonymous SNV T216T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 263663 chr17 18881905 18881905 G A rs745480019 FAM83G Synonymous SNV D358D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 263664 chr16 3024099 3024099 T C rs765503658 PKMYT1 Synonymous SNV L335L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 263665 chr6 166738062 166738062 C G rs201368298 SFT2D1 Nonsynonymous SNV V125L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 263666 chr17 39502794 39502794 G A rs751281665 KRT33A Stop gain Q335X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 263667 chr15 52246716 52246718 TTT - LEO1 K434del 0 0.003 0 0 0 1 0 0 0 0 0 0 263668 chr5 41160335 41160335 T A rs896909104 C6 Synonymous SNV R531R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.246 263669 chr6 1726689 1726689 G A rs931855958 GMDS Synonymous SNV H286H 0 0 0.007 0 0 0 0 2 0 0 0 0 12.05 263670 chr17 26960374 26960374 G A KIAA0100 Synonymous SNV L1028L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 263671 chr17 27441078 27441078 G A rs747308252 MYO18A Nonsynonymous SNV P850L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 263672 chr16 4254583 4254589 GATGTGG - SRL H37Rfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 263673 chr16 427440 427440 C T PGAP6 Nonsynonymous SNV A149T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 263674 chr6 27729613 27729613 C T rs189092083 LOC100131289 0 0 0.003 0 0 0 0 1 0 0 0 0 8.856 263675 chr6 34004167 34004167 G A rs747536615 GRM4 Nonsynonymous SNV R458W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 263676 chr17 33433434 33433434 G A rs587782695 RAD51D Stop gain Q71X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 39 263677 chr5 78076418 78076418 T G ARSB Synonymous SNV P468P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.747 263678 chr17 35979832 35979832 C G DDX52 Nonsynonymous SNV G544R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 263679 chr6 37430691 37430691 G A rs770462745 CMTR1 Nonsynonymous SNV R471Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 263680 chr6 39895239 39895239 G A rs777075172 MOCS1 Nonsynonymous SNV P27S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.566 263681 chr17 37070646 37070646 G A rs143838983 LASP1 Synonymous SNV E86E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 263682 chr17 48435785 48435785 G A rs775129659 XYLT2 Nonsynonymous SNV R720Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 263683 chr6 7727711 7727711 C T rs754050955 BMP6 Nonsynonymous SNV P175S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 263684 chr6 47547209 47547209 T A rs140188898 CD2AP Nonsynonymous SNV L331H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.665 263685 chr6 51483984 51483984 T G rs144399387 PKHD1 Nonsynonymous SNV Q4040H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.057 263686 chr17 76441679 76441679 T C DNAH17 Synonymous SNV P3765P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 263687 chr6 56500476 56500476 T G rs138548125 DST Synonymous SNV R496R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.811 263688 chr17 62020306 62020306 T A rs754311975 SCN4A Nonsynonymous SNV M1390L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 263689 chr17 39334112 39334112 C T rs754307555 KRTAP4-2 Nonsynonymous SNV R102H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.64 263690 chr17 41166133 41166133 G A rs757512640 IFI35 Synonymous SNV S226S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.494 263691 chr16 10524864 10524864 C A rs138817082 ATF7IP2 Synonymous SNV V129V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.21 263692 chr17 66864324 66864324 C G ABCA8 Nonsynonymous SNV V1550L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 263693 chr17 39883679 39883679 C T rs143032820 HAP1 Synonymous SNV Q402Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.9 263694 chr16 87417050 87417050 G C FBXO31 Nonsynonymous SNV L101V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 263695 chr17 42188127 42188127 G C rs368189024 HDAC5 Nonsynonymous SNV R23G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 263696 chr6 90405372 90405372 A G rs773325904 MDN1 Synonymous SNV F3241F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.744 263697 chr6 41555161 41555161 G C FOXP4 Synonymous SNV S261S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.555 263698 chr16 89999919 89999919 C T rs754683361 TUBB3 Synonymous SNV P70P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.8 263699 chr17 1386189 1386189 C T rs759605207 MYO1C Nonsynonymous SNV R171Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 263700 chr5 149509394 149509394 C T rs148974733 PDGFRB Nonsynonymous SNV R438Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.65 263701 chr17 19232167 19232167 G A rs772339828 EPN2 Nonsynonymous SNV A146T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.18 263702 chr17 7750633 7750633 G A rs142347409 KDM6B Nonsynonymous SNV V374I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.71 263703 chr16 30740333 30740333 A G rs117480926 SRCAP Nonsynonymous SNV E1902G 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Benign/Likely benign 24 263704 chr18 3879164 3879164 G A rs146753741 DLGAP1 Nonsynonymous SNV A302V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 263705 chr7 113558919 113558919 C T rs8192687 PPP1R3A Nonsynonymous SNV G45S 0 0 0.017 0 0 0 0 5 0 0 0 0 Benign 18.89 263706 chr5 169662055 169662055 G A rs758731380 C5orf58 Synonymous SNV S25S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.72 263707 chr16 3117993 3117993 G A rs117009471 IL32 Synonymous SNV S21S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 3.155 263708 chr18 47769447 47769447 A G CFAP53 Synonymous SNV L346L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.019 263709 chr17 27426738 27426738 G A rs373632670 MYO18A Nonsynonymous SNV R1184W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 263710 chr17 79225256 79225256 G A rs748775711 SLC38A10 Nonsynonymous SNV P701L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.364 263711 chr7 128767135 128767135 G A LOC407835 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 263712 chr17 3181542 3181542 C T rs748048838 OR3A2 Nonsynonymous SNV V230M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 263713 chr17 80022720 80022720 C G rs771011597 DUS1L Nonsynonymous SNV E72D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.9 263714 chr17 72469722 72469722 G A rs111636139 CD300A Nonsynonymous SNV G30R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 263715 chr17 80918935 80918935 G A rs770370413 B3GNTL1 Synonymous SNV L63L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.298 263716 chr7 139791741 139791741 G A KDM7A Nonsynonymous SNV T865I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 263717 chr11 85309720 85309720 G A rs149715452 DLG2 Synonymous SNV S44S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.34 263718 chr17 73512921 73512921 C G rs748151171 TSEN54 Nonsynonymous SNV Q51E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 263719 chr18 11886515 11886515 G A rs139906247 MPPE1 Nonsynonymous SNV R262W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 263720 chr17 36927436 36927436 C T PIP4K2B Synonymous SNV E299E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.57 263721 chr17 39032619 39032619 A G rs200160703 KRT20 Synonymous SNV N423N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 263722 chr18 25583088 25583088 T A rs200798903 CDH2 Nonsynonymous SNV N267I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 263723 chr16 70384477 70384477 C T rs754689569 DDX19A Synonymous SNV I25I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.78 263724 chr6 26199417 26199417 A C rs765570067 H2AC7 Nonsynonymous SNV S19A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 263725 chr19 1003622 1003622 C T rs576700288 GRIN3B Nonsynonymous SNV A307V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 263726 chr7 150553974 150553974 C A rs148613441 AOC1 Nonsynonymous SNV A139E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 263727 chr19 10104343 10104343 A G rs374561543 COL5A3 Synonymous SNV D549D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.722 263728 chr7 150864117 150864117 C A rs201756310 GBX1 Nonsynonymous SNV E173D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 263729 chr6 36690002 36690002 G A rs1010384706 RAB44 Synonymous SNV S697S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.739 263730 chr19 1042747 1042747 A G rs531280216 ABCA7 Synonymous SNV E167E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.74 263731 chr6 38840315 38840315 T C DNAH8 Nonsynonymous SNV Y2115H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 263732 chr6 40400799 40400799 G A rs377250295 LRFN2 Synonymous SNV V18V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.984 263733 chr6 41002466 41002466 C T UNC5CL Nonsynonymous SNV M116I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.33 263734 chr6 41035125 41035125 G A rs777581809 OARD1 Synonymous SNV I136I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.03 263735 chr17 79213176 79213176 G T NDUFAF8 Stop gain G5X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 263736 chr6 161020585 161020585 C T rs868022430 LPA Stop gain W1078X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 263737 chr6 42620315 42620315 A C rs150443989 UBR2 Nonsynonymous SNV M901L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.48 263738 chr19 11536997 11536999 CTC - rs750011384 CCDC151 E250del 0 0 0 1 0 0 0.003 0 0 0 0 0 263739 chr6 42897387 42897387 G A CNPY3, CNPY3-GNMT Nonsynonymous SNV A27T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 263740 chr6 43167815 43167815 G A rs375384551 CUL9 Nonsynonymous SNV R1102Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 263741 chr7 23793957 23793957 T G STK31 Nonsynonymous SNV F363C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 263742 chr6 43496596 43496596 G C rs751500353 XPO5 Nonsynonymous SNV I915M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.42 263743 chr7 27186997 27186997 A G HOXA6 Synonymous SNV H124H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 263744 chr7 27228852 27228852 C T rs550534420 HOXA11-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 9.916 263745 chr17 8215465 8215465 T C ARHGEF15 Synonymous SNV P36P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.21 263746 chr19 1469885 1469885 G A APC2 Synonymous SNV E2194E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.103 263747 chr17 9536335 9536335 C T rs144319003 CFAP52 Synonymous SNV G367G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.78 263748 chr12 122217460 122217460 T C rs368780277 RHOF Nonsynonymous SNV S194G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.225 263749 chr16 88600520 88600520 C A ZFPM1 Synonymous SNV A718A 0.003 0.005 0 0 4 2 0 0 0 0 0 0 15.41 263750 chr7 2984022 2984022 G T rs753614569 CARD11 Nonsynonymous SNV R170S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 263751 chr12 123461475 123461475 G A rs376280200 OGFOD2 Nonsynonymous SNV A121T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 23.8 263752 chr7 44102490 44102490 G A rs779964633 PGAM2 Nonsynonymous SNV T212M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 263753 chr7 44147278 44147278 G A rs771478590 AEBP1 Nonsynonymous SNV E240K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263754 chr19 17379901 17379901 G T rs756448807 BABAM1 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 263755 chr7 47894496 47894496 C T rs369137577 PKD1L1 Nonsynonymous SNV V1615I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.697 263756 chr18 3116349 3116349 T C rs201308522 MYOM1 Nonsynonymous SNV I999V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 263757 chr7 4827322 4827322 C T rs111358719 AP5Z1 Synonymous SNV L301L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.101 263758 chr7 4830366 4830368 CAA - rs768558699 AP5Z1 N512del 0 0 0.003 0 0 0 0 1 0 0 0 0 263759 chr6 79655862 79655862 C T rs144832938 PHIP Nonsynonymous SNV G1496S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 263760 chr19 1796236 1796236 G A rs369866322 ATP8B3 Synonymous SNV P547P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.68 263761 chr18 47506874 47506874 G T rs16951352 MYO5B Synonymous SNV I332I 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.37 263762 chr7 5410758 5410758 C T rs377679353 TNRC18 Nonsynonymous SNV R1156Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26 263763 chr6 110679450 110679450 C G rs77469804 METTL24 Nonsynonymous SNV R9T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 263764 chr6 111628748 111628748 C T rs765471595 REV3L Nonsynonymous SNV R3023Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263765 chr18 60383883 60383883 T C rs747843451 PHLPP1 Nonsynonymous SNV S323P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 263766 chr12 29617737 29617737 A G rs978350374 OVCH1-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.439 263767 chr18 58038762 58038762 T C rs121913561 MC4R Nonsynonymous SNV N274S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 263768 chr19 2994931 2994931 G A rs753398922 TLE6 Nonsynonymous SNV V427I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 263769 chr18 61654365 61654365 A G SERPINB8 Synonymous SNV T146T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.643 263770 chr7 8258114 8258114 A G ICA1 Synonymous SNV L134L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.667 263771 chr19 3178848 3178848 G A rs755109529 S1PR4 Nonsynonymous SNV G20R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.443 263772 chr6 117825047 117825047 G A rs755093205 DCBLD1 Nonsynonymous SNV G77E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 263773 chr17 26901242 26901242 G A rs149519856 ALDOC Synonymous SNV Y214Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 263774 chr19 36053489 36053489 C T ATP4A Nonsynonymous SNV A90T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 263775 chr17 27903973 27903973 C T GIT1 Nonsynonymous SNV D379N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 263776 chr17 74898666 74898666 G A rs142179833 MGAT5B Nonsynonymous SNV R131Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 263777 chr19 38386923 38386923 C T WDR87 Nonsynonymous SNV C34Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.236 263778 chr19 39008071 39008071 T C rs375626634 RYR1 Nonsynonymous SNV I3253T 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 20 263779 chr17 39506678 39506678 C T KRT33A Synonymous SNV Q114Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.61 263780 chr19 42817557 42817557 G A rs1055064353 TMEM145 Nonsynonymous SNV R10H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 263781 chr12 57423368 57423368 A G rs121909306 MYO1A Nonsynonymous SNV S910P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.4 263782 chr8 144940920 144940920 T C rs116388180 EPPK1 Nonsynonymous SNV S2168G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.005 263783 chr8 144942328 144942328 G A rs146777869 EPPK1 Synonymous SNV R1698R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.865 263784 chr8 144945742 144945742 - AAGGTGACCCTG rs199724348 EPPK1 F560_S561insRVTF 0 0 0.007 0 0 0 0 2 0 0 0 0 263785 chr8 144991428 144991428 G A rs11998271 PLEC Synonymous SNV D4173D 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 3.009 263786 chr8 144992388 144992388 G A rs75833626 PLEC Synonymous SNV D3853D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.805 263787 chr8 144995670 144995670 G A rs34534853 PLEC Synonymous SNV A2759A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.248 263788 chr8 144996263 144996263 G A rs11988293 PLEC Synonymous SNV L2562L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.159 263789 chr8 144998232 144998232 C T rs62642469 PLEC Synonymous SNV A1941A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.135 263790 chr8 145057699 145057699 G A rs112247646 PARP10 Synonymous SNV S698S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.897 263791 chr8 145086883 145086883 G A rs112699293 SPATC1 Nonsynonymous SNV R67H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.857 263792 chr19 44571081 44571081 C T ZNF223 Nonsynonymous SNV T367I 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 263793 chr8 145665803 145665803 G A rs746125304 TONSL Synonymous SNV Y407Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.862 263794 chr8 145698743 145698743 C G rs762304932 KIFC2 Nonsynonymous SNV L783V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.798 263795 chr19 46259264 46259264 C A BHMG1 Nonsynonymous SNV P280H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 263796 chr18 34360124 34360124 G A rs866183703 TPGS2 Stop gain R229X 0 0 0 1 0 0 0.003 0 0 0 0 0 5.654 263797 chr7 21640513 21640513 G A rs765778415 DNAH11 Nonsynonymous SNV E1074K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 2.799 263798 chr19 4652405 4652405 A G TNFAIP8L1 Nonsynonymous SNV E175G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 263799 chr19 47878768 47878768 C T DHX34 Stop gain Q704X 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 263800 chr19 41066250 41066250 C T rs780705111 SPTBN4 Synonymous SNV R628R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 263801 chr18 53255725 53255725 - ACAATCTGAAGCCTGA TCF4 Frameshift insertion T15Qfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 263802 chr7 127670190 127670190 G A LRRC4 Synonymous SNV N168N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.203 263803 chr19 42407902 42407902 G T ARHGEF1 Nonsynonymous SNV R595L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 263804 chr7 37947181 37947181 G C rs778026259 SFRP4 Nonsynonymous SNV P314R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 14 263805 chr8 28575442 28575442 G A rs761635451 EXTL3 Synonymous SNV V622V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.497 263806 chr8 37605289 37605289 A G LOC728024 0 0 0.003 0 0 0 0 1 0 0 0 0 3.363 263807 chr8 37729751 37729751 G A RAB11FIP1 Nonsynonymous SNV P857S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.333 263808 chr7 47323462 47323462 G A rs377266460 TNS3 Synonymous SNV A1310A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.75 263809 chr8 41791127 41791127 G A rs200721745 KAT6A Synonymous SNV S1537S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.93 263810 chr8 42612154 42612154 C G rs202156793 CHRNA6 Nonsynonymous SNV W82C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 263811 chr17 63923713 63923713 C T rs74475221 CEP112 Nonsynonymous SNV R614Q 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.2 263812 chr18 72186266 72186266 C T rs141146483 CNDP2 Synonymous SNV N347N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 263813 chr18 77090074 77090074 C T rs780788902 ATP9B Synonymous SNV I666I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.75 263814 chr18 77170739 77170739 C T NFATC1 Nonsynonymous SNV A155V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.02 263815 chr19 52217245 52217245 G C HAS1 Nonsynonymous SNV A390G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 263816 chr19 37369180 37369180 A C rs768628748 ZNF345 Nonsynonymous SNV E483A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.35 263817 chr8 8176297 8176297 G A PRAG1 Synonymous SNV S1196S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.119 263818 chr8 95178083 95178083 G A rs745546338 CDH17 Synonymous SNV I396I 0 0 0.007 0 0 0 0 2 0 0 0 0 3.27 263819 chr19 38597210 38597210 T C SIPA1L3 Nonsynonymous SNV M688T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.655 263820 chr7 82579879 82579879 G C PCLO Nonsynonymous SNV A3342G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.511 263821 chr7 82580009 82580009 G C PCLO Nonsynonymous SNV L3299V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 263822 chr19 39019673 39019673 G A RYR1 Nonsynonymous SNV S3701N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 263823 chr9 101814709 101814709 T G COL15A1 Nonsynonymous SNV F982V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 263824 chr9 104238222 104238222 C T rs775557693 TMEM246 Nonsynonymous SNV V385M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 263825 chr19 54721312 54721312 G A rs200874692 LILRB3 Nonsynonymous SNV T543M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 263826 chr13 42404672 42404672 G A rs539354050 VWA8 Stop gain Q565X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 263827 chr7 92826864 92826864 T A rs184972478 HEPACAM2 Nonsynonymous SNV I346L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.23 263828 chr19 11311054 11311054 G A rs758692332 DOCK6 Nonsynonymous SNV R2011W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 263829 chr19 11558389 11558391 GAG - rs769700259 PRKCSH E333del 0 0 0 1 0 0 0.003 0 0 0 0 0 263830 chr9 113166694 113166694 A G rs764619987 SVEP1 Synonymous SNV H3193H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.293 263831 chr19 12936563 12936563 G C RTBDN Nonsynonymous SNV A216G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 263832 chr19 12936564 12936564 C T rs552362874 RTBDN Nonsynonymous SNV A216T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.98 263833 chr7 99689104 99689104 G A rs773052192 COPS6 Synonymous SNV P268P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.4 263834 chr19 42729327 42729327 G A rs147068650 ZNF526 Nonsynonymous SNV G258S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 263835 chr19 15065132 15065132 C T SLC1A6 Synonymous SNV T393T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 263836 chr9 117434001 117434001 C T TEX48 Star tloss M1I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 263837 chr19 56126500 56126511 GCGGCGGCGGCC - ZNF865 A509_A512del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 263838 chr9 118916772 118916772 C T rs374951455 PAPPA Synonymous SNV R107R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.38 263839 chr13 96705454 96705454 T A rs780604699 UGGT2 Nonsynonymous SNV H38L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 4.67 263840 chr19 5744440 5744440 A G rs747837458 CATSPERD Synonymous SNV A192A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.704 263841 chr19 45924555 45924555 G A ERCC1 Nonsynonymous SNV P68S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.885 263842 chr14 102904471 102904471 C T rs373163345 TECPR2 Nonsynonymous SNV A836V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.78 263843 chr19 45851380 45851380 C T rs773401860 KLC3 Synonymous SNV D247D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 263844 chr19 18104365 18104365 C A rs917018031 KCNN1 Synonymous SNV A458A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.16 263845 chr19 44570711 44570724 AGATCAGCACTTAC - ZNF223 R244Sfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 263846 chr7 105662756 105662756 C A CDHR3 Stop gain Y558X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 263847 chr19 48305566 48305566 C T rs12463317 TPRX1 Synonymous SNV P234P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.531 263848 chr9 135374930 135374930 G A rs761039835 CFAP77 Nonsynonymous SNV R156H 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 263849 chr9 135554338 135554338 C T rs144756359 GTF3C4 Synonymous SNV D444D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.935 263850 chr18 10789305 10789305 T G rs1021262669 PIEZO2 Nonsynonymous SNV E647D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.079 263851 chr18 12420432 12420432 C T rs535156758 PRELID3A Synonymous SNV G26G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.091 263852 chr9 138586957 138586957 T A SOHLH1 Nonsynonymous SNV M272L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 263853 chr19 8137034 8137034 C T rs144060152 FBN3 Synonymous SNV P2662P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.48 263854 chr9 13927980 13927980 C A rs35960404 LINC00583 0 0 0.024 0 0 0 0 7 0 0 3 0 6.177 263855 chr8 75276365 75276365 C T rs374624466 GDAP1 Synonymous SNV Y222Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.75 263856 chr9 139904686 139904686 G A rs201928308 ABCA2 Synonymous SNV D2104D 0.002 0 0.01 0 2 0 0 3 0 0 0 0 8.039 263857 chr18 28986058 28986058 C T rs200288878 DSG4 Nonsynonymous SNV T552M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.069 263858 chr19 51135816 51135816 G C rs780650624 SYT3 Nonsynonymous SNV A134G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 9.314 263859 chr9 140074651 140074651 C T rs746255843 ANAPC2 Synonymous SNV K624K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 15.14 263860 chr9 140437997 140437997 C T rs774331512 PNPLA7 Synonymous SNV P106P 0 0 0.007 0 0 0 0 2 0 0 0 0 18.97 263861 chr8 109001327 109001327 G A rs755256368 RSPO2 Synonymous SNV S13S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 263862 chr19 36205928 36205928 C A rs767597336 ZBTB32 Nonsynonymous SNV P134T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 263863 chr9 214926 214926 C T DOCK8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 263864 chr9 215511 215511 C T rs2023402 DOCK8-AS1 0 0 0.014 0 0 0 0 4 0 0 2 0 10.75 263865 chr14 50140925 50140925 C T POLE2 Nonsynonymous SNV M85I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 263866 chr19 374391 374391 G A rs766159442 THEG Synonymous SNV S113S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.274 263867 chr1 102270169 102270169 G A rs752339884 OLFM3 Synonymous SNV I354I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.11 263868 chr14 52520942 52520942 C T rs200644684 NID2 Nonsynonymous SNV A289T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.09 263869 chr8 139890291 139890291 C T rs753511425 COL22A1 Synonymous SNV A120A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 263870 chr7 154667673 154667673 G A rs371687724 DPP6 Synonymous SNV T540T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.78 263871 chr9 6610217 6610217 C T rs757620314 GLDC Nonsynonymous SNV A204T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263872 chr7 156974338 156974338 C T UBE3C Nonsynonymous SNV T248I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.73 263873 chr19 4054208 4054208 C T rs7251080 ZBTB7A Synonymous SNV S341S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.28 263874 chr19 4054640 4054640 G A rs73534140 ZBTB7A Synonymous SNV A197A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.013 263875 chr9 77611632 77611635 CAAA - rs139611924 CARNMT1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 263876 chr14 65053938 65053938 G A PPP1R36 Synonymous SNV V246V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 263877 chr19 4171825 4171825 G A rs115268777 CREB3L3 Synonymous SNV T414T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.521 263878 chr19 55673624 55673624 G A DNAAF3 Synonymous SNV N187N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.95 263879 chr9 86327446 86327446 C T rs11140223 LOC105376114 0 0 0.01 0 0 0 0 3 0 0 1 0 5.01 263880 chr1 11718850 11718850 G A rs938195425 FBXO44 Nonsynonymous SNV V141I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.89 263881 chr9 86586985 86586985 C T rs745760398 HNRNPK Nonsynonymous SNV M231I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 263882 chr19 4217043 4217043 A G ANKRD24 Nonsynonymous SNV D629G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.077 263883 chr1 118634312 118634312 T C SPAG17 Nonsynonymous SNV M426V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 263884 chrX 100503227 100503227 G C DRP2 Nonsynonymous SNV V390L 0 0 0.007 0 0 0 0 2 0 0 1 0 23.9 263885 chrX 107403730 107403730 A G rs139424040 COL4A6 Synonymous SNV F1439F 0 0 0.007 0 0 0 0 2 0 0 1 0 0.154 263886 chr1 1256467 1256467 C T INTS11 Nonsynonymous SNV G12D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 263887 chrX 12939955 12939955 C T TLR8 Synonymous SNV L932L 0 0 0.007 0 0 0 0 2 0 0 1 0 8.335 263888 chr1 146680512 146680512 T A rs148462233 FMO5 Synonymous SNV I244I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.322 263889 chrX 135431215 135431215 G T rs755692382 ADGRG4 Nonsynonymous SNV V1784F 0 0 0.007 0 0 0 0 2 0 0 1 0 20.6 263890 chrX 135431382 135431382 A G rs145599230 ADGRG4 Synonymous SNV S1839S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.046 263891 chr19 12297641 12297641 A G ZNF136 Nonsynonymous SNV S84G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.234 263892 chr19 4510938 4510938 C T rs73540169 PLIN4 Nonsynonymous SNV V1012I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.035 263893 chr19 4511973 4511973 A G rs73920827 PLIN4 Nonsynonymous SNV F667L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 263894 chr19 55648516 55648516 C T rs770079408 TNNT1 Nonsynonymous SNV R178H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.6 263895 chrX 150908052 150908052 G A CNGA2 Synonymous SNV G74G 0 0 0.007 0 0 0 0 2 0 0 1 0 8.108 263896 chr19 4518249 4518249 G T rs61511854 PLIN4 Synonymous SNV P12P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.63 263897 chr19 4550858 4550858 G T rs10422855 SEMA6B Synonymous SNV P358P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.866 263898 chr1 152816168 152816168 C T rs756616199 LCE6A Nonsynonymous SNV R58C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 263899 chr1 153907283 153907306 TGCTGCTGCTGCTGCTGCTGCTGT - rs776428974 DENND4B Q914_Q921del 0 0 0 1 0 0 0.003 0 0 0 0 0 263900 chrX 38533570 38533570 C T rs111440990 TSPAN7 Synonymous SNV S147S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 13.93 263901 chr19 6678035 6678035 C A rs112179814 C3 0.003 0 0 1 4 0 0.003 0 0 0 0 0 23.2 263902 chrX 51638522 51638522 A G MAGED1 Nonsynonymous SNV N140S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.004 263903 chrX 73062117 73062117 G T rs750405788 XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 3.955 263904 chr1 1564870 1564870 C G MIB2 Synonymous SNV A879A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.816 263905 chr8 68965474 68965474 G A PREX2 Synonymous SNV R362R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.61 263906 chr1 158607931 158607931 C T rs201822255 SPTA1 Nonsynonymous SNV R1694H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 263907 chr19 50161595 50161595 C T rs367978986 SCAF1 Nonsynonymous SNV P1293L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 25 263908 chr10 112837979 112837979 G C rs12416313 ADRA2A Synonymous SNV T75T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.12 263909 chr10 115365566 115365566 C T rs370318520 NRAP Synonymous SNV A1254A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 263910 chr10 115668149 115668149 A G rs113108393 NHLRC2 Nonsynonymous SNV I679V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 263911 chr10 115962012 115962012 A G rs181972593 TDRD1 Synonymous SNV E217E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.094 263912 chr10 116068193 116068193 G A rs74537149 AFAP1L2 Synonymous SNV D322D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.221 263913 chr10 116085768 116085768 G A rs118051646 AFAP1L2 Nonsynonymous SNV A116V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.503 263914 chr1 16256463 16256463 G A SPEN Nonsynonymous SNV R1243Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 263915 chr10 11653518 11653518 C A LOC107984208 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 263916 chr19 9577952 9577952 T C rs377006748 ZNF560 Synonymous SNV S451S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.389 263917 chr19 2427261 2427261 G A TIMM13 Nonsynonymous SNV S61F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 263918 chr19 52034048 52034048 G A rs371565589 SIGLEC6 Nonsynonymous SNV S162L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 263919 chr10 127548327 127548327 C T rs368692405 DHX32 Nonsynonymous SNV V232M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 263920 chr1 153735839 153735839 G A INTS3 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 263921 chr1 153935180 153935180 C G SLC39A1 Nonsynonymous SNV W4C 0 0.003 0 0 0 1 0 0 0 0 0 0 24 263922 chr15 58465266 58465266 G A rs200160540 AQP9 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 263923 chr1 109840192 109840192 C A rs777645184 MYBPHL Nonsynonymous SNV L94F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 263924 chr15 62223292 62223292 G A rs745608214 VPS13C Nonsynonymous SNV S1969L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 263925 chr9 118997431 118997431 T C rs374885577 PAPPA Synonymous SNV V749V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 263926 chr1 182517937 182517937 G A RGSL1 Nonsynonymous SNV V971I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 263927 chr10 21806290 21806290 C G SKIDA1 Nonsynonymous SNV Q154H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 263928 chr1 1890605 1890605 G A rs571992324 CFAP74 Nonsynonymous SNV T602M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 263929 chr10 27524032 27524032 T A rs759687298 ACBD5 Synonymous SNV G95G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.928 263930 chr1 16070695 16070695 T C rs373163383 TMEM82 Nonsynonymous SNV L126P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 263931 chr9 2650478 2650478 G T VLDLR Nonsynonymous SNV S697I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.59 263932 chr1 151372109 151372109 C T rs771817722 PSMB4 Nonsynonymous SNV P16S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 263933 chr1 12409389 12409389 G A rs201384634 VPS13D Nonsynonymous SNV R3105Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 263934 chr1 152128200 152128200 G A rs189546119 RPTN Stop gain Q459X 0.003 0 0 0 3 0 0 0 0 0 0 0 27.7 263935 chr1 109794560 109794560 A G rs747385582 CELSR2 Nonsynonymous SNV N620S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 263936 chr1 152327377 152327377 C T rs145907775 FLG2 Nonsynonymous SNV G962D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.47 263937 chr10 49791120 49791120 C T rs551965474 ARHGAP22 Nonsynonymous SNV V38M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 263938 chr9 15874605 15874605 C T CCDC171 Synonymous SNV L1190L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.159 263939 chr1 110754685 110754685 A G rs574307394 KCNC4 Synonymous SNV R188R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.192 263940 chr10 50081567 50081567 A G rs767729609 WDFY4 Nonsynonymous SNV N2258S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 263941 chr10 50098714 50098714 G A rs190860545 WDFY4 Nonsynonymous SNV E2420K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 263942 chr9 18906881 18906881 A G rs757994465 ADAMTSL1 Nonsynonymous SNV Q1718R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 263943 chr9 22447298 22447298 C T rs1029541487 DMRTA1 Synonymous SNV P78P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.9 263944 chr1 206821857 206821857 T - rs781807797 DYRK3 A439Pfs*16 0 0 0 1 0 0 0.003 0 0 0 0 0 263945 chr1 207086302 207086302 A G rs139474303 FCMR Synonymous SNV Y41Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 263946 chr1 207134042 207134042 T C rs114889196 FCAMR Synonymous SNV Q393Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.004 263947 chr10 5541162 5541162 C T CALML5 Synonymous SNV L80L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.847 263948 chr1 152058384 152058384 G T TCHHL1 Nonsynonymous SNV P592T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.82 263949 chr1 156214631 156214631 G A rs774211862 PAQR6 Nonsynonymous SNV S5F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.12 263950 chr9 35094242 35094242 T C rs138028827 PIGO Nonsynonymous SNV N209S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.13 263951 chr10 65225909 65225909 - GCGGCGGCA JMJD1C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 263952 chr19 7734723 7734723 C T rs139153129 RETN Synonymous SNV S45S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.804 263953 chr10 79741219 79741219 G A rs373306216 POLR3A Synonymous SNV H1286H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.39 263954 chr19 881583 881583 C A MED16 Nonsynonymous SNV D373Y 0 0 0 1 0 0 0.003 0 0 0 0 0 33 263955 chr1 186306274 186306274 C T rs150466145 TPR Synonymous SNV S1459S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 263956 chr10 82331315 82331315 G A SH2D4B Nonsynonymous SNV R110H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 263957 chr1 225707105 225707105 T C rs1032837601 ENAH Synonymous SNV E199E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.53 263958 chr1 18809061 18809061 T G rs547428564 KLHDC7A Nonsynonymous SNV V529G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 263959 chr10 92912389 92912389 G A rs142626563 NUDT9P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.917 263960 chr10 93668370 93668370 C T FGFBP3 Synonymous SNV K119K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 263961 chr10 95191218 95191218 A T rs180853104 MYOF Nonsynonymous SNV S98T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.1 263962 chr19 48636286 48636286 C T LIG1 Nonsynonymous SNV E492K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 263963 chr19 48922849 48922849 C T rs761690976 GRIN2D Synonymous SNV G623G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 263964 chr19 49439430 49439430 C - rs756732355 DHDH R116Efs*20 0 0.003 0 0 0 1 0 0 0 0 0 0 263965 chr16 20996738 20996738 A T rs935961920 DNAH3 Nonsynonymous SNV S2396R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 263966 chr1 23238952 23238952 G C EPHB2 Synonymous SNV L846L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.056 263967 chr19 50338820 50338820 G A MED25 Synonymous SNV L568L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.126 263968 chr1 17411149 17411149 C A rs764855520 PADI2 Nonsynonymous SNV A295S 0.002 0 0 0 2 0 0 0 0 0 0 0 32 263969 chr16 28497916 28497916 G A rs148846795 CLN3 Synonymous SNV L72L 0 0.005 0 0 0 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.518 263970 chr9 123605133 123605133 G A rs767450164 PSMD5 Synonymous SNV L19L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.84 263971 chr1 112305325 112305325 G C rs143443770 DDX20 Nonsynonymous SNV K377N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.84 263972 chr11 105924260 105924260 C T rs770761503 KBTBD3 Nonsynonymous SNV V307I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.99 263973 chr1 246704339 246704339 A G rs371852358 TFB2M Synonymous SNV D395D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.243 263974 chr9 125797492 125797492 G A rs200334416 GPR21 Nonsynonymous SNV R216H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.8 263975 chr11 108302532 108302532 T A rs765276152 C11orf65 Nonsynonymous SNV I39F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 263976 chr11 1097286 1097286 C T rs758436887 MUC2 Synonymous SNV V2234V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.885 263977 chr1 248084854 248084854 A G rs4584426 OR2T8 Nonsynonymous SNV T179A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.075 263978 chr1 248098055 248098055 T G OR2AJ1 X330E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 263979 chr11 119061419 119061419 G C rs138528075 CCDC153 Nonsynonymous SNV H160Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.2 263980 chr9 133543700 133543700 - GT rs373135514 PRDM12 Frameshift insertion M191Vfs*2 0.002 0 0 1 2 0 0.003 0 0 0 0 0 263981 chr1 2523402 2523402 T C rs760308175 MMEL1 Nonsynonymous SNV H711R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 263982 chr1 152193693 152193693 C A HRNR Nonsynonymous SNV D138Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 263983 chr1 197059203 197059203 T C ASPM Nonsynonymous SNV R1696G 0.003 0 0 0 4 0 0 0 0 0 0 0 18.33 263984 chr1 27121311 27121311 A T rs769687257 PIGV Nonsynonymous SNV Q262H 0 0 0 2 0 0 0.005 0 0 0 0 0 13.21 263985 chr1 27684706 27684706 G T rs201384950 MAP3K6 Nonsynonymous SNV R953S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 263986 chr1 27874134 27874134 G T AHDC1 Nonsynonymous SNV A1498E 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 263987 chr1 200569187 200569187 T A KIF14 Nonsynonymous SNV K294N 0.003 0 0 0 4 0 0 0 0 0 0 0 26.2 263988 chr1 200943958 200943958 C G rs751378190 KIF21B Synonymous SNV A1553A 0.003 0 0 0 4 0 0 0 0 0 0 0 15.03 263989 chr1 28476911 28476911 C G rs770192597 PTAFR Nonsynonymous SNV V208L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.946 263990 chr9 137658893 137658893 C T rs201298716 COL5A1 Synonymous SNV G727G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.16 263991 chr1 29542558 29542558 A G MECR Nonsynonymous SNV L46P 0 0 0 2 0 0 0.005 0 0 0 0 0 26 263992 chr1 201177347 201177347 C T rs908173345 IGFN1 Nonsynonymous SNV P1109L 0.003 0 0 0 4 0 0 0 0 0 0 0 13.51 263993 chr1 31194411 31194411 C T rs138133809 MATN1 Synonymous SNV S94S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.731 263994 chr11 126138687 126138687 A T SRPRA Nonsynonymous SNV F5I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 263995 chr11 130319230 130319230 G A ADAMTS15 Nonsynonymous SNV G121E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 263996 chr1 202934500 202934500 T C rs989849089 CYB5R1 Synonymous SNV K158K 0.003 0 0 0 4 0 0 0 0 0 0 0 13.22 263997 chr19 58117860 58117860 - A ZNF530 Stop gain Y323* 0 0.003 0 0 0 1 0 0 0 0 0 0 263998 chr19 582310 582310 C T rs112152563 BSG Synonymous SNV D178D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 263999 chr10 99150269 99150269 G A rs369103845 RRP12 Nonsynonymous SNV R161W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 264000 chr11 2188681 2188681 C T rs536382000 TH Nonsynonymous SNV E227K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 264001 chr11 252543 252543 G A rs143526107 PSMD13 Synonymous SNV T360T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 264002 chr11 2594192 2594192 C T rs373183513 KCNQ1 Synonymous SNV Y299Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 264003 chr1 161185124 161185124 G A rs144682477 FCER1G Nonsynonymous SNV V5M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 264004 chr1 46494589 46494589 T C rs191974594 MAST2 Synonymous SNV F734F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 6.007 264005 chr1 162549351 162549351 A G UAP1 Nonsynonymous SNV K207E 0 0 0 1 0 0 0.003 0 0 0 0 0 27 264006 chr1 47144148 47144148 T C rs147016490 EFCAB14 Synonymous SNV V491V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.572 264007 chr10 18937532 18937532 C T rs138645480 NSUN6 Nonsynonymous SNV E40K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 264008 chr1 231064820 231064820 A G rs748001294 TTC13 Synonymous SNV H387H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.738 264009 chr1 58999918 58999918 T C rs139938730 OMA1 Nonsynonymous SNV E272G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 264010 chr11 47804739 47804739 A G NUP160 Synonymous SNV A1334A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.328 264011 chr1 64680581 64680581 A C rs149687595 UBE2U Nonsynonymous SNV R141S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 2.919 264012 chr17 15967457 15967457 G A rs777612906 NCOR1 Nonsynonymous SNV R1732W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 264013 chr1 103364516 103364516 T C rs1003817827 COL11A1 Nonsynonymous SNV Q1258R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.5 264014 chr1 41976253 41976253 G A rs370392307 HIVEP3 Nonsynonymous SNV R2363C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 264015 chr11 56000501 56000501 T C rs200066905 OR5T2 Nonsynonymous SNV K54R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 264016 chr1 55139727 55139727 G A rs542534258 MROH7 Synonymous SNV G131G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 264017 chr1 204109241 204109241 C T rs374969247 ETNK2 Nonsynonymous SNV V86M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 264018 chr20 10632860 10632860 C G rs750195672 JAG1 Nonsynonymous SNV G309R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 29.2 264019 chr11 5632426 5632426 G T rs766777481 TRIM6 Nonsynonymous SNV A266S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 264020 chr1 204403047 204403047 G A PIK3C2B Synonymous SNV D1239D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.77 264021 chr20 13279713 13279713 G A rs752266127 ISM1 Synonymous SNV T334T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.2 264022 chr10 98742017 98742017 G A rs754926215 LCOR Synonymous SNV P600P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 264023 chr1 27874944 27874944 C T rs762492021 AHDC1 Nonsynonymous SNV S1228N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 264024 chr1 151783839 151783839 G T RORC Nonsynonymous SNV H432N 0 0.003 0 0 0 1 0 0 0 0 0 0 21 264025 chr1 211486306 211486306 G A RCOR3 Synonymous SNV V440V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.47 264026 chr20 20512436 20512436 G A rs376853921 RALGAPA2 Synonymous SNV C1159C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.926 264027 chr1 35370855 35370855 C T rs527841852 DLGAP3 Nonsynonymous SNV E44K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 264028 chr20 25491321 25491321 A G rs182526959 NINL Nonsynonymous SNV F169S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 264029 chr11 62285818 62285818 G A rs137898001 AHNAK Synonymous SNV N5357N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.473 264030 chr20 31035587 31035587 A C rs777147266 NOL4L Nonsynonymous SNV S375A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 264031 chr11 62543864 62543864 T A rs150723132 TAF6L Synonymous SNV S52S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.952 264032 chr1 225525178 225525178 G A rs561730299 DNAH14 Nonsynonymous SNV G3431R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 264033 chr1 89582910 89582910 A G GBP2 Synonymous SNV D211D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.079 264034 chr20 32250194 32250194 C T rs762770370 C20orf144 Stop gain Q15X 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 35 264035 chr20 32255777 32255777 C T ACTL10 Synonymous SNV R158R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.177 264036 chr11 63993024 63993024 - G TRPT1 Frameshift insertion L35Pfs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 264037 chr20 35444389 35444389 C T SOGA1 Nonsynonymous SNV G486S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 264038 chr11 64594813 64594813 C T CDC42BPG Nonsynonymous SNV R1403H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 264039 chr1 44072074 44072074 C T rs566920391 PTPRF Nonsynonymous SNV P912L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 264040 chr11 65620413 65620413 A G rs931977907 SNX32 Nonsynonymous SNV E381G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 264041 chr20 43940493 43940493 G A RBPJL Nonsynonymous SNV E115K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 264042 chr1 232649938 232649938 C A rs770896568 SIPA1L2 Nonsynonymous SNV S383I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 264043 chr1 2338162 2338162 C T rs773147980 PEX10 Nonsynonymous SNV R258H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 22.9 264044 chr1 62737151 62737151 C T rs115329333 KANK4 Nonsynonymous SNV G43R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 264045 chr20 45174217 45174217 G A rs369681916 OCSTAMP Nonsynonymous SNV R266W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 264046 chr11 68747984 68747984 C T rs200059036 MRGPRD Nonsynonymous SNV G158R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 264047 chr20 50346422 50346422 C T rs145570376 ATP9A Nonsynonymous SNV R55Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 264048 chr11 430373 430373 G A rs756994913 ANO9 Synonymous SNV Y46Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.921 264049 chr11 71184673 71184673 C T rs369964593 NADSYN1 Nonsynonymous SNV H203Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 264050 chr1 2445849 2445849 C G rs755165110 PANK4 Synonymous SNV A477A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.594 264051 chr1 8424120 8424120 C A rs749272392 RERE Nonsynonymous SNV G25V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 264052 chr1 246729339 246729339 C T rs140273082 TFB2M Synonymous SNV K34K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.02 264053 chr20 60639520 60639520 G T TAF4 Nonsynonymous SNV F449L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 264054 chr20 60885052 60885052 C T rs370333867 LAMA5 Nonsynonymous SNV R3607Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.87 264055 chr20 30818685 30818685 T G POFUT1 Nonsynonymous SNV C267G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 264056 chr1 180772621 180772621 G A XPR1 Synonymous SNV L107L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.891 264057 chr11 92533855 92533855 A C FAT3 Nonsynonymous SNV D2559A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 264058 chr1 9671834 9671834 G A rs750046192 TMEM201 Nonsynonymous SNV G597S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 264059 chr11 93819212 93819212 A G HEPHL1 Nonsynonymous SNV H646R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 264060 chr11 9754179 9754179 A G SWAP70 Synonymous SNV Q276Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.006 264061 chr21 27062220 27062220 C A JAM2 Nonsynonymous SNV S59Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 264062 chr1 192617070 192617070 A T RGS13 Nonsynonymous SNV E27V 0 0.005 0 0 0 2 0 0 0 0 0 0 31 264063 chr12 10324633 10324633 G A rs751951658 OLR1 Nonsynonymous SNV P15L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 264064 chr1 32207782 32207782 G A rs375380188 ADGRB2 Nonsynonymous SNV P430L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.5 264065 chr1 33059072 33059072 G C rs200375463 ZBTB8A Nonsynonymous SNV W180C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 264066 chr21 31852575 31852575 A G rs201298020 KRTAP19-1 Nonsynonymous SNV L21P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.75 264067 chr12 104340575 104340575 - GAA HSP90B1 D706_D707insE 0 0 0.003 0 0 0 0 1 0 0 0 0 264068 chr12 10568277 10568277 G A rs200006578 KLRC3 Nonsynonymous SNV A235V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 264069 chr11 4621997 4621997 T C rs948938981 TRIM68 Nonsynonymous SNV K100E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 264070 chr20 51870084 51870084 - GAG rs747508364 TSHZ2 E31_D32insE 0 0.003 0 0 0 1 0 0 0 0 0 0 264071 chr1 201777676 201777676 T C NAV1 Synonymous SNV L932L 0 0.005 0 0 0 2 0 0 0 0 0 0 2.404 264072 chr20 57767943 57767943 C T rs182458619 ZNF831 Synonymous SNV Y623Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 12.31 264073 chr1 39844977 39844977 A G rs761190322 MACF1 Nonsynonymous SNV N2398S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 264074 chr12 112485518 112485518 G A rs757007450 NAA25 Stop gain R653X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 264075 chr12 113624732 113624732 A T RITA1 Nonsynonymous SNV N85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.99 264076 chr20 3147766 3147766 C T rs754573667 LZTS3 Nonsynonymous SNV R15Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 264077 chr21 44485801 44485801 G A rs769438280 CBS, CBSL Synonymous SNV I47I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.59 264078 chr12 121176365 121176365 C T rs200652158 ACADS Synonymous SNV I275I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.77 264079 chr12 122674917 122674917 T C LRRC43 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 264080 chr20 3781128 3781128 C T rs147172963 CDC25B Nonsynonymous SNV R84C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 264081 chr12 126929568 126929568 C T rs146924136 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 1.669 264082 chr12 126942679 126942679 G A rs112554010 LINC02347 0 0 0.007 0 0 0 0 2 0 0 0 0 3.222 264083 chr12 130184613 130184613 C T rs760557702 TMEM132D Nonsynonymous SNV G237E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 264084 chr12 13028681 13028681 C G rs11055119 RPL13AP20 0 0 0.007 0 0 0 0 2 0 0 0 0 3.147 264085 chr12 130912840 130912840 G A rs761925052 RIMBP2 Nonsynonymous SNV R749W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 264086 chr1 55161148 55161148 C T rs755992083 MROH7 Synonymous SNV T501T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 17.69 264087 chr11 6898060 6898060 - CTT rs775961753 OR10A4 F63_L64insF 0 0 0 2 0 0 0.005 0 0 0 0 0 264088 chr22 17690553 17690553 G A rs765451096 ADA2 Synonymous SNV G5G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.086 264089 chr20 25290153 25290153 G A rs779308393 ABHD12 Synonymous SNV H226H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.82 264090 chr12 132528731 132528731 A T rs750278944 EP400 Nonsynonymous SNV M2154L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.331 264091 chr17 80046116 80046116 G A rs564814781 FASN Synonymous SNV P887P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 3.347 264092 chr12 15784472 15784472 C T rs754925249 EPS8 Nonsynonymous SNV V650I 0 0 0.003 0 0 0 0 1 0 0 0 0 18 264093 chr20 3354794 3354794 C A rs752729814 C20orf194 Nonsynonymous SNV L171F 0 0.003 0 0 0 1 0 0 0 0 0 0 24 264094 chr12 22622731 22622731 T C rs768626962 C2CD5 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 264095 chr12 29462154 29462154 C T rs765239519 FAR2 Synonymous SNV I156I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 264096 chr12 2964563 2964563 C T rs769525382 TEX52 Nonsynonymous SNV R41H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 264097 chr1 233135045 233135045 G A rs752881475 PCNX2 Synonymous SNV R1803R 0.001 0.008 0 0 1 3 0 0 0 0 0 0 6.1 264098 chr12 3728529 3728529 C T rs199614731 CRACR2A Nonsynonymous SNV G648R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 264099 chr12 40757342 40757342 C T rs780498854 LRRK2 Synonymous SNV C2389C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 264100 chr22 30887699 30887699 G A rs375851923 SEC14L4 Synonymous SNV I314I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.32 264101 chr20 60987715 60987715 C T rs138112542 RBBP8NL Nonsynonymous SNV R614Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.575 264102 chr1 240370218 240370218 A G rs766273136 FMN2 Synonymous SNV T702T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.007 264103 chr22 36556780 36556780 C T rs147279686 APOL3 Nonsynonymous SNV V54M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.408 264104 chr1 86954708 86954708 A G CLCA1 Synonymous SNV G404G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.21 264105 chr22 37538521 37538521 C T rs149508414 IL2RB Nonsynonymous SNV V79M 0 0 0 2 0 0 0.005 0 0 0 0 1 Benign 7.951 264106 chr22 37603783 37603783 C T rs375933199 SSTR3 Synonymous SNV S20S 0 0 0 2 0 0 0.005 0 0 0 0 1 6.997 264107 chr12 51054036 51054036 T C DIP2B Synonymous SNV L121L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.014 264108 chr22 40417776 40417776 G A rs141861984 FAM83F Nonsynonymous SNV R421Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.234 264109 chr18 5397364 5397364 G A rs140230336 EPB41L3 Nonsynonymous SNV P623L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.21 264110 chr11 66029363 66029363 G A rs753620706 KLC2 Nonsynonymous SNV V127M 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 264111 chr20 61491648 61491648 G A rs151286308 TCFL5 Synonymous SNV L220L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 264112 chr21 34635283 34635283 G A IFNAR2 Synonymous SNV L342L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.111 264113 chr12 55725996 55725996 T C rs147047550 OR6C3 Nonsynonymous SNV I171T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 264114 chr22 46760531 46760531 G A rs755292351 CELSR1 Nonsynonymous SNV T2886I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 264115 chr21 38862599 38862599 C A DYRK1A Synonymous SNV R225R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 264116 chr20 2097556 2097556 G C STK35 Synonymous SNV V379V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.423 264117 chr21 32410615 32410615 G A rs771650898 KRTAP19-8 Stop gain R50X 0.004 0 0 0 5 0 0 0 0 0 0 0 35 264118 chr11 77103537 77103537 T C PAK1 Nonsynonymous SNV D10G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 264119 chr21 43413786 43413786 T A ZBTB21 Nonsynonymous SNV D140V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 264120 chr20 30607035 30607035 - GGCGGCGGC CCM2L G259_A260insGGG 0 0 0 1 0 0 0.003 0 0 0 0 0 264121 chr1 3102848 3102848 C T rs374012976 PRDM16 Nonsynonymous SNV S66L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.1 264122 chr2 100046368 100046368 G A rs758837489 REV1 Nonsynonymous SNV A493V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 264123 chr2 100199423 100199423 C T rs773175963 AFF3 Nonsynonymous SNV R902Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 264124 chr20 33585390 33585390 C T rs371853048 MYH7B Nonsynonymous SNV R1274C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 264125 chr1 3416168 3416168 G A rs773664083 MEGF6 Synonymous SNV G983G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.738 264126 chr20 37146532 37146532 C T rs747377080 RALGAPB Nonsynonymous SNV R436W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 264127 chr1 38158384 38158384 A G CDCA8 Nonsynonymous SNV S8G 0 0.005 0 0 0 2 0 0 0 0 0 0 22.5 264128 chr21 41446994 41446994 G T rs201077680 DSCAM Synonymous SNV R1620R 0 0.005 0 0 0 2 0 0 0 0 0 0 11.08 264129 chr1 40668239 40668239 A T RLF Nonsynonymous SNV I255F 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 264130 chr12 91449475 91449475 A G rs763099091 KERA Nonsynonymous SNV M195T 0 0 0.01 0 0 0 0 3 0 0 0 0 12.53 264131 chr20 44038603 44038603 G C rs370188558 DBNDD2 Synonymous SNV L205L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.138 264132 chr2 120369318 120369318 G A rs201425804 CFAP221 Synonymous SNV E437E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.156 264133 chr22 22039200 22039200 G T PPIL2 Nonsynonymous SNV A238S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 264134 chr1 43890846 43890846 C T SZT2 Synonymous SNV L871L 0 0.005 0 0 0 2 0 0 0 0 0 0 12.03 264135 chr22 50217577 50217577 G T BRD1 Nonsynonymous SNV P130Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 264136 chr13 103390063 103390063 T C rs780987295 CCDC168 Synonymous SNV V4328V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.618 264137 chr13 113864303 113864303 C G rs530579872 CUL4A Synonymous SNV P55P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 264138 chr2 154334916 154334916 C T rs753673954 RPRM Nonsynonymous SNV R55H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 264139 chr13 114526409 114526409 C T rs770488795 GAS6 Nonsynonymous SNV R531H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 264140 chr2 159035477 159035477 G A rs770140859 CCDC148 Nonsynonymous SNV R322C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 264141 chr2 160636685 160636685 C T rs146987171 CD302, LY75-CD302 Synonymous SNV A63A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 17.46 264142 chr11 125864927 125864927 C T rs148081735 CDON Nonsynonymous SNV V795I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.2 264143 chr13 25276101 25276101 T C ATP12A Nonsynonymous SNV I643T 0 0 0.003 0 0 0 0 1 0 0 0 0 28 264144 chr1 57373727 57373727 A G rs111937292 C8A Nonsynonymous SNV I441V 0 0.005 0 0 0 2 0 0 0 0 0 0 5.499 264145 chr11 64599043 64599043 T C CDC42BPG Nonsynonymous SNV T1080A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 264146 chr2 166221706 166221706 C T rs145662546 SCN2A Synonymous SNV P1151P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign/Likely benign 12.01 264147 chr11 130275492 130275492 C T rs376567515 ADAMTS8 Synonymous SNV E877E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 264148 chr13 42876662 42876662 G A rs368757742 AKAP11 Synonymous SNV A1260A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 264149 chr20 62854659 62854659 T G MYT1 Synonymous SNV P825P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.867 264150 chr1 68947847 68947847 A T rs761756687 DEPDC1 Synonymous SNV A548A 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 264151 chr2 179397619 179397619 G A rs190866742 TTN Nonsynonymous SNV R25510C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.6 264152 chr2 179454869 179454869 T A TTN Nonsynonymous SNV D11463V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 264153 chr13 53000176 53000176 A T rs759133031 VPS36 Nonsynonymous SNV L213Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 264154 chr12 6952193 6952193 G C GNB3 Nonsynonymous SNV R52S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 264155 chr2 135744178 135744178 T C MAP3K19 Nonsynonymous SNV D642G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 264156 chr22 30765536 30765536 C T rs765915278 CCDC157 Nonsynonymous SNV R122C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 264157 chr13 95364053 95364053 T C rs752537822 SOX21 Nonsynonymous SNV K84R 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 264158 chr11 73717292 73717292 G A rs749122889 UCP3 Nonsynonymous SNV R87C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 264159 chr2 183699682 183699682 A G rs112094045 FRZB Nonsynonymous SNV M291T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 16.38 264160 chr13 99457308 99457308 G A rs373066046 DOCK9 Synonymous SNV T1859T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 264161 chr2 152222730 152222730 C T rs201527132 TNFAIP6 Synonymous SNV H131H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.778 264162 chr14 101350523 101350523 G A rs890386889 RTL1 Synonymous SNV P201P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.348 264163 chr14 101432434 101432434 C T rs200883872 SNORD114-9 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 264164 chr14 102551254 102551254 - TTCTTT rs552167468 HSP90AA1 E248_E249insKE 0 0 0.003 0 0 0 0 1 0 0 0 0 264165 chr14 103450001 103450001 C T rs751949292 CDC42BPB Synonymous SNV E261E 0 0 0.007 0 0 0 0 2 0 0 0 0 16.48 264166 chr14 105174843 105174843 C T rs760506368 INF2 Synonymous SNV I602I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.5 264167 chr2 19553159 19553159 G A rs146441080 OSR1 Synonymous SNV R136R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.276 264168 chr22 50717291 50717291 C T rs186846228 PLXNB2 Synonymous SNV V1513V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 264169 chr2 168108106 168108106 C T XIRP2 Nonsynonymous SNV P3180S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 264170 chr20 126212 126212 G C DEFB126 Nonsynonymous SNV C72S 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 264171 chr2 207176158 207176160 AAG - rs776453897 ZDBF2 R2305del 0 0 0 1 0 0 0.003 0 0 0 0 0 264172 chr14 23282367 23282367 G A rs371860097 SLC7A7 Nonsynonymous SNV L81F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 264173 chr12 27915886 27915886 G A rs1011291397 MANSC4 Nonsynonymous SNV H270Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.47 264174 chr2 211299271 211299271 T C rs369903926 LANCL1 Nonsynonymous SNV I380M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 264175 chr11 108712062 108712062 A G rs576202761 DDX10 Synonymous SNV Q702Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.043 264176 chr22 46125400 46125400 T C rs145859375 ATXN10 Nonsynonymous SNV I211T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.02 264177 chr22 47022780 47022780 G A rs755025823 GRAMD4 Synonymous SNV S54S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.36 264178 chr2 215595215 215595215 G A rs587781948 BARD1 Stop gain R128X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 40 264179 chr12 32491864 32491864 C T BICD1 Synonymous SNV I905I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 264180 chr14 24839569 24839569 C T rs146803212 NFATC4 Nonsynonymous SNV P322L 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 19.05 264181 chr14 29261309 29261309 - ACAAAC rs56025822 LINC01551 0 0 0.003 0 0 0 0 1 0 0 0 0 264182 chr11 117869556 117869556 C T rs142396542 IL10RA Synonymous SNV L313L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.2 264183 chr11 118344600 118344600 G A rs139227835 KMT2A Nonsynonymous SNV G909D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25.2 264184 chr14 36096841 36096841 T C RALGAPA1 Nonsynonymous SNV I2057M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 264185 chr2 107459950 107459950 C T ST6GAL2 Nonsynonymous SNV A162T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.355 264186 chr2 190593470 190593470 T C rs150498189 ANKAR Nonsynonymous SNV V1039A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 264187 chr19 40832380 40832380 G A rs149925272 C19orf47 Synonymous SNV R188R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.752 264188 chr11 122954394 122954394 T G rs768633361 CLMP Synonymous SNV R184R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.77 264189 chr14 53197231 53197231 G A rs199977346 STYX Synonymous SNV Q13Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.37 264190 chr2 141214091 141214091 G A LRP1B Nonsynonymous SNV A3299V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 264191 chr19 44005902 44005902 C T PHLDB3 Nonsynonymous SNV R173H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 264192 chr2 125555898 125555898 G A CNTNAP5 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 264193 chr19 44103185 44103185 C T rs141361120 ZNF576 Synonymous SNV A96A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.8 264194 chr11 124619747 124619747 G A rs76654665 VSIG2 Nonsynonymous SNV P148L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 264195 chr14 67525472 67525472 G A rs770812117 GPHN Synonymous SNV P338P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 264196 chr19 45211191 45211191 C T rs200767877 CEACAM16 Synonymous SNV D333D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.51 264197 chr20 49247339 49247339 C T rs145744332 RIPOR3 Nonsynonymous SNV V20M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 264198 chr19 45368669 45368669 C T rs111808500 NECTIN2 Nonsynonymous SNV A77V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.895 264199 chr19 45855889 45855889 G A rs769085031 ERCC2 Nonsynonymous SNV R641W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 264200 chr14 77685241 77685241 G A rs201228582 TMEM63C Nonsynonymous SNV V29I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 264201 chr14 81302560 81302560 C T CEP128 Nonsynonymous SNV R349K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.94 264202 chr2 220097337 220097337 C T rs370400955 ANKZF1 Stop gain R164X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 264203 chr20 57242550 57242550 C T STX16 Nonsynonymous SNV A46V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 264204 chr14 88478015 88478015 C T rs373680239 GPR65 Nonsynonymous SNV T275M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 264205 chr12 6457114 6457114 G A rs370406973 SCNN1A Synonymous SNV A704A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.48 264206 chr2 220470776 220470776 C T rs145811191 STK11IP Nonsynonymous SNV R282C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 264207 chr14 94844948 94844948 G C rs201774333 SERPINA1 Nonsynonymous SNV D365E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 264208 chr19 49436979 49436979 A C rs368832079 DHDH Star tloss M1? 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.4 264209 chr14 96178699 96178699 C T rs146705048 TCL1A Nonsynonymous SNV R52H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 264210 chr19 49920457 49920457 T C rs757781496 CCDC155 Nonsynonymous SNV M494T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.675 264211 chr2 28113157 28113157 A G rs113651030 RBKS Nonsynonymous SNV V19A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 264212 chr2 179641330 179641330 A G TTN Nonsynonymous SNV I1708T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 264213 chr12 10856665 10856665 C T rs745797213 YBX3 Nonsynonymous SNV R219H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.8 264214 chr15 102389072 102389072 C T rs930107471 OR4F13P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.311 264215 chr15 23086356 23086356 C T NIPA1 Nonsynonymous SNV G19E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 264216 chr19 51647859 51647859 C G rs549102934 SIGLEC7 Nonsynonymous SNV H210Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 264217 chr2 113942555 113942555 C T PSD4 Nonsynonymous SNV P360S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.882 264218 chr15 37390352 37390352 C T rs764284757 MEIS2 Nonsynonymous SNV A8T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 264219 chr15 40751815 40751815 C T BAHD1 Synonymous SNV G384G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 264220 chr2 202698594 202698594 G C rs150762445 CDK15 Synonymous SNV R210R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.249 264221 chr15 42114592 42114592 T C rs749150003 MAPKBP1 Synonymous SNV F1067F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.27 264222 chr2 25022693 25022693 G A rs1037939535 CENPO Nonsynonymous SNV V60M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.38 264223 chr12 43896012 43896012 T C rs149705052 ADAMTS20 Synonymous SNV K270K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.258 264224 chr12 46321771 46321771 T C rs141484476 SCAF11 Synonymous SNV L571L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 264225 chr2 63272446 63272446 G T rs929981987 LOC100132215 0 0 0 1 0 0 0.003 0 0 0 0 0 9.916 264226 chr2 201354965 201354965 T C rs142159452 KCTD18 Nonsynonymous SNV K380R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.728 264227 chr15 44087306 44087306 C T rs146664766 SERINC4 Synonymous SNV L239L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 264228 chr15 44091320 44091320 C G rs569584101 SERINC4 Nonsynonymous SNV G99R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 264229 chr15 44967748 44967759 TCTGGGTCCAGA - rs566428690 PATL2 D51_L54del 0 0 0.003 0 0 0 0 1 0 0 0 0 264230 chr15 45399123 45399123 G A rs563416210 DUOX2 Nonsynonymous SNV P580S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 264231 chr2 71216903 71216903 T C TEX261 Synonymous SNV A116A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.918 264232 chr2 204822561 204822561 A G ICOS Nonsynonymous SNV M181V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 264233 chr2 31562482 31562482 G T rs143981573 XDH Nonsynonymous SNV P1216H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 264234 chr15 55710704 55710705 CT - C15orf65 L102Kfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 264235 chr2 42991127 42991127 G A rs146033252 OXER1 Nonsynonymous SNV P65S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 264236 chr22 23235991 23235991 C T rs201675786 IGLL5 Synonymous SNV T106T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.69 264237 chr2 182763762 182763762 G C ITPRID2 Nonsynonymous SNV E142D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 264238 chr12 64581422 64581422 G C C12orf66 Stop gain Y448X 0 0 0 1 0 0 0.003 0 0 0 0 0 7.344 264239 chr3 121208535 121208535 C T rs774281316 POLQ Synonymous SNV P1081P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 264240 chr12 70352275 70352275 C T rs547565289 MYRFL Synonymous SNV T899T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.98 264241 chr2 97530541 97530541 G A rs567359236 SEMA4C Nonsynonymous SNV P288L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 264242 chr3 130284246 130284246 G A rs747310047 COL6A6 Nonsynonymous SNV R357Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 264243 chr2 20823759 20823759 C T rs35589938 HS1BP3 Nonsynonymous SNV G273R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.8 264244 chr2 20838273 20838273 G A rs34051285 HS1BP3 Synonymous SNV P182P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.659 264245 chr2 20840864 20840864 G A rs77941615 HS1BP3 Nonsynonymous SNV P92L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 264246 chr2 20870571 20870571 C T rs77256296 GDF7 Synonymous SNV L247L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 8.383 264247 chr22 41652026 41652026 T A RANGAP1 Nonsynonymous SNV S358C 0 0.003 0 0 0 1 0 0 0 0 0 0 29 264248 chr2 21260058 21260058 T C rs72653059 APOB Nonsynonymous SNV I203V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 264249 chr12 106715471 106715471 G T rs77806322 TCP11L2 Nonsynonymous SNV V208L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 264250 chr12 108128059 108128060 AG - rs764476667 PRDM4 S778Cfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 264251 chr16 15844004 15844004 G A rs150924100 MYH11 Synonymous SNV H683H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10 264252 chr16 1842182 1842182 C G rs755949791 IGFALS Synonymous SNV L117L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 264253 chr12 110352275 110352275 A G rs371270223 TCHP Nonsynonymous SNV Q388R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 264254 chr12 113440906 113440906 G A rs150642424 OAS2 Nonsynonymous SNV R393Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 264255 chr12 113444257 113444257 A T OAS2 Nonsynonymous SNV Y503F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 264256 chr14 23467925 23467925 C T rs781681124 C14orf93 Nonsynonymous SNV G103E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 264257 chr3 125286281 125286281 G A OSBPL11 Synonymous SNV L275L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.063 264258 chr14 23857423 23857423 C T rs397516769 MYH6 Nonsynonymous SNV V1434I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.5 264259 chr16 23400248 23400248 T C rs373700348 COG7 Nonsynonymous SNV N769S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 264260 chr16 23464289 23464289 G T COG7 Nonsynonymous SNV D9E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 264261 chr16 23706580 23706580 C T rs374029883 ERN2 Nonsynonymous SNV E529K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 264262 chr22 50636376 50636376 A G rs777904258 TRABD Nonsynonymous SNV M270V 0 0.005 0 0 0 2 0 0 0 0 0 0 5.727 264263 chr2 223536591 223536591 G A MOGAT1 Synonymous SNV L29L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.218 264264 chr12 120741424 120741424 C T rs144924773 SIRT4 Synonymous SNV P20P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.752 264265 chr12 121163726 121163726 C T ACADS Nonsynonymous SNV A13V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.532 264266 chr16 29818505 29818505 C T rs759056981 MAZ Synonymous SNV P133P 0 0.005 0.003 0 0 2 0 1 0 0 0 0 8.046 264267 chr2 231314373 231314373 G A rs77629037 SP100 Synonymous SNV S203S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.358 264268 chr1 111060753 111060753 G A rs141683106 KCNA10 Synonymous SNV A219A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.336 264269 chr16 30709156 30709156 T C rs553771371 LOC730183 Synonymous SNV G90G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.714 264270 chr16 3100301 3100301 C T rs200216387 MMP25 Nonsynonymous SNV R139W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 264271 chr1 112045712 112045712 G A rs35789323 ADORA3, TMIGD3 Synonymous SNV L89L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.765 264272 chr3 184566974 184566974 T C rs761783211 VPS8 Synonymous SNV A206A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.73 264273 chr3 185329450 185329450 G A rs143348143 SENP2 Nonsynonymous SNV S245N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.5 264274 chr2 71185530 71185530 G A rs200269431 ATP6V1B1 Nonsynonymous SNV R114Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 24 264275 chr2 71376470 71376470 C T rs771463759 MPHOSPH10 Nonsynonymous SNV R595W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 264276 chr2 234878431 234878431 C A TRPM8 Synonymous SNV G706G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.32 264277 chr12 129558771 129558771 C T rs375506313 TMEM132D Synonymous SNV S983S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.043 264278 chr2 74883737 74883737 C T rs760650136 SEMA4F Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 264279 chr12 132516656 132516656 C T rs200733426 EP400 Synonymous SNV C1971C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.24 264280 chr2 74274824 74274824 A G rs749961426 TET3 Nonsynonymous SNV K501E 0.003 0 0 0 4 0 0 0 0 0 0 0 10.03 264281 chr16 5080441 5080441 C T rs766757654 NAGPA Nonsynonymous SNV D246N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 264282 chr2 241657511 241657511 A G rs768316049 KIF1A Synonymous SNV H1662H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 7.768 264283 chr2 128520700 128520700 G A rs920939883 WDR33 Synonymous SNV C220C 0 0.003 0 0 0 1 0 0 0 0 0 0 2.412 264284 chr13 28537427 28537438 TGCTGCTGCTGT - rs775392059 CDX2 Q253_Q256del 0 0 0 1 0 0 0.003 0 0 0 0 0 264285 chr16 593365 593365 C T rs531310763 MIR3176 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 264286 chr2 242814672 242814672 C A rs202054840 RTP5 Nonsynonymous SNV T322K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.13 264287 chr13 32911717 32911717 T C rs779228375 BRCA2 Synonymous SNV S1075S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.004 264288 chr14 71514640 71514640 A G rs777740677 PCNX1 Nonsynonymous SNV Y1315C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 264289 chr3 38164040 38164040 C T rs200230021 DLEC1 Nonsynonymous SNV P1761S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.398 264290 chr14 75376589 75376589 C G rs905759910 RPS6KL1 Nonsynonymous SNV R309S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.88 264291 chr3 40085644 40085644 A G rs139785854 MYRIP Nonsynonymous SNV T72A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 264292 chr16 77389919 77389919 T C rs777129845 ADAMTS18 Nonsynonymous SNV I288V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 264293 chr2 37586852 37586852 C T rs142847125 QPCT Stop gain R133X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 36 264294 chr2 170366485 170366485 T C rs116809051 KLHL41 Nonsynonymous SNV I66T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.601 264295 chr2 170428406 170428406 T G rs145051116 FASTKD1 Nonsynonymous SNV K45T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.23 264296 chr2 170592670 170592670 A T rs143163061 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV P382P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 264297 chr2 170684343 170684343 C T UBR3 Nonsynonymous SNV A109V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 264298 chr13 79176587 79176587 G T rs376644798 POU4F1 Nonsynonymous SNV P75T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 264299 chr16 83932955 83932955 C T rs200579941 MLYCD Nonsynonymous SNV A69V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 21.3 264300 chr2 175201998 175201998 G C rs753741766 SP9 Synonymous SNV P395P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.29 264301 chr16 84270990 84270990 C T rs138425512 KCNG4 Synonymous SNV P34P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 264302 chr3 47125841 47125841 G A SETD2 Nonsynonymous SNV P1766L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 264303 chr16 86565832 86565832 G C rs187973880 MTHFSD Nonsynonymous SNV L313V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 264304 chr3 4735395 4735395 C T rs375223250 ITPR1 Synonymous SNV R1402R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 17.29 264305 chr16 87799475 87799483 CCTTCTTGC - rs759876715 KLHDC4 G5_K7del 0 0 0.003 0 0 0 0 1 0 0 0 0 264306 chr3 48581043 48581043 C T PFKFB4 Synonymous SNV R116R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.11 264307 chr2 70408555 70408555 A G C2orf42 Nonsynonymous SNV I188T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.8 264308 chr13 114786885 114786885 C T rs143516417 RASA3 Synonymous SNV E228E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 264309 chr13 115057183 115057185 AAG - rs549638820 UPF3A R57del 0 0 0 1 0 0 0.003 0 0 0 0 0 264310 chr14 20482598 20482598 A C rs367811368 OR4K14 Nonsynonymous SNV F252C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 264311 chr16 90094082 90094082 C T GAS8 Synonymous SNV G14G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.91 264312 chr3 135745706 135745706 A T PPP2R3A Synonymous SNV T55T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 264313 chr2 74762879 74762879 G A rs548268627 LOXL3 Stop gain R57X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 264314 chr3 42681053 42681053 G A rs148038168 NKTR Nonsynonymous SNV R1286H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 264315 chr2 85529700 85529700 - CAA TCF7L1 P207_P208insT 0 0 0 1 0 0 0.003 0 0 0 0 0 264316 chr3 43389858 43389858 G A rs202212938 SNRK Nonsynonymous SNV G497S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.831 264317 chr3 46306692 46306692 T G CCR3 Nonsynonymous SNV S15A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 264318 chr3 77612400 77612400 T C ROBO2 Synonymous SNV T534T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.229 264319 chr14 24029037 24029037 C T rs74849041 AP1G2 Nonsynonymous SNV R379H 0 0 0 1 0 0 0.003 0 0 0 0 0 27 264320 chr17 18154270 18154270 G C rs755968715 FLII Nonsynonymous SNV A498G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 264321 chr3 16237313 16237313 A T GALNT15 Nonsynonymous SNV I196F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 264322 chr14 24705004 24705004 G T rs45530636 GMPR2 Nonsynonymous SNV G108V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.81 264323 chr3 49161861 49161861 G A rs376981766 LAMB2 Synonymous SNV H1098H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.107 264324 chr15 43476643 43476643 C T rs138203832 TMEM62 Synonymous SNV Y357Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 264325 chr3 50382601 50382601 A C rs141884144 ZMYND10 Nonsynonymous SNV V52G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.72 264326 chr3 51452176 51452176 G A rs201655201 DCAF1 Nonsynonymous SNV R1112C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 264327 chr14 45473323 45473323 T C rs775956620 TOGARAM1 Nonsynonymous SNV C800R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 264328 chr3 121228977 121228977 C T rs767091013 POLQ Synonymous SNV E575E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.4 264329 chr17 27050723 27050723 C T rs76539025 SNORD4B 0 0 0.003 0 0 0 0 1 0 0 0 0 4.114 264330 chr17 27051771 27051771 G A rs34739563 TLCD1 Synonymous SNV L120L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.396 264331 chr17 27053780 27053780 C T rs114594477 TLCD1 Nonsynonymous SNV R16K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.685 264332 chr3 121981163 121981163 T C rs771741512 CASR Synonymous SNV I427I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.228 264333 chr3 53322242 53322242 G A rs782729017 DCP1A Synonymous SNV A344A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.6 264334 chr17 30469377 30469377 C T rs12946153 LOC105371730 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 264335 chr3 189028214 189028214 G A rs138024891 TPRG1 Synonymous SNV P173P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.07 264336 chr14 58955429 58955429 T G KIAA0586 Nonsynonymous SNV F1066L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.431 264337 chr17 38179585 38179585 C T rs140671155 MED24 Synonymous SNV T670T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.5 264338 chr4 147177653 147177653 G A rs758686469 SLC10A7 Nonsynonymous SNV P325L 0 0 0 1 0 0 0.003 0 0 0 0 0 25 264339 chr4 159091424 159091424 C G rs150507892 GASK1B Nonsynonymous SNV G329A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.434 264340 chr4 159091718 159091718 C T rs768762237 GASK1B Synonymous SNV Q270Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.01 264341 chr3 141292790 141292790 A G RASA2 Nonsynonymous SNV N455S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 264342 chr17 39635168 39635168 C T rs573378713 KRT35 Nonsynonymous SNV R264Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 264343 chr3 148928100 148928100 T G CP Nonsynonymous SNV Q154P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.672 264344 chr3 151171371 151171371 T C rs746084072 IGSF10 Synonymous SNV T172T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.368 264345 chr4 122085241 122085241 C G rs746493432 TNIP3 Nonsynonymous SNV A14P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 264346 chr17 41931242 41931242 A G rs9911625 CD300LG Synonymous SNV P149P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.281 264347 chr3 157160254 157160254 T C PTX3 Nonsynonymous SNV I211T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.689 264348 chr17 41959862 41959862 C T rs34598923 MPP2 Synonymous SNV V146V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 264349 chr17 42015658 42015658 G C rs554699611 LINC01976 0 0 0.003 0 0 0 0 1 0 0 0 0 4.053 264350 chr14 93943980 93943980 C T rs191837926 UNC79 Synonymous SNV P175P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.55 264351 chr3 164786901 164786901 C A SI Nonsynonymous SNV G113V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 264352 chr3 46491995 46491995 C T rs148283280 LTF Nonsynonymous SNV R247H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 264353 chr4 13597526 13597526 C T BOD1L1 Nonsynonymous SNV A2688T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 264354 chr14 95903306 95903308 GTA - rs201240192 SYNE3 L796del 0 0 0 1 0 0 0.003 0 0 0 0 0 264355 chr3 171431702 171431702 G A rs373694099 PLD1 Stop gain R298X 0 0 0 1 0 0 0.003 0 0 0 0 0 42 264356 chr17 48614374 48614374 C T rs752524025 EPN3 Nonsynonymous SNV R153C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 264357 chr17 5308382 5308382 G A rs777986025 NUP88 Nonsynonymous SNV H347Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 264358 chr17 56329560 56329560 C G rs149317856 LPO Synonymous SNV P183P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.173 264359 chr17 57272730 57272730 C T rs141592364 PRR11 Synonymous SNV T261T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.01 264360 chr17 59955287 59955287 T C INTS2 Nonsynonymous SNV N806S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 264361 chr15 26108190 26108190 C T rs572438938 ATP10A Synonymous SNV R18R 0 0 0 2 0 0 0.005 0 0 0 0 0 15.44 264362 chr17 6328998 6328998 C A rs115681466 AIPL1 Nonsynonymous SNV A250S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24 264363 chr3 56766300 56766300 G A rs142595048 ARHGEF3 Synonymous SNV G404G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 264364 chr17 6337375 6337375 G C rs150656720 AIPL1 Nonsynonymous SNV T47R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 264365 chr3 9804685 9804685 C T rs556978311 CAMK1 Synonymous SNV T114T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.89 264366 chr3 25677576 25677576 A G rs758411041 TOP2B Nonsynonymous SNV Y230H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 264367 chr3 9512153 9512153 G A rs773495612 SETD5 Nonsynonymous SNV R912Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.91 264368 chr3 9489381 9489381 A G rs376761696 SETD5 Synonymous SNV A598A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.982 264369 chr17 71166210 71166212 AGA - rs776197166 SSTR2 K253del 0 0 0.003 0 0 0 0 1 0 0 0 0 264370 chr15 41795050 41795050 G A rs201490754 ITPKA Nonsynonymous SNV R392K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.19 264371 chr17 72942956 72942956 G A rs376636331 OTOP3 Nonsynonymous SNV G318R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 264372 chr4 72363294 72363294 A T rs35891845 SLC4A4 Nonsynonymous SNV N640I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.63 264373 chr4 39247063 39247063 C T rs201967816 WDR19 Nonsynonymous SNV A747V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 27.4 264374 chr4 79387428 79387428 G A rs749650059 FRAS1 Nonsynonymous SNV G2366R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.58 264375 chr16 15872667 15872667 C T MYH11 Nonsynonymous SNV G254S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 264376 chr16 16138502 16138502 C T rs201807299 ABCC1 Synonymous SNV H335H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 264377 chr3 10283869 10283869 A G IRAK2 Nonsynonymous SNV Y612C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26 264378 chr3 108272495 108272495 T C rs552946430 CIP2A Nonsynonymous SNV N803D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 264379 chr15 55652605 55652605 T C rs146958976 CCPG1 Nonsynonymous SNV K456E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 264380 chr3 47452772 47452772 C T rs147400377 PTPN23 Nonsynonymous SNV R1036W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.1 264381 chr3 48629243 48629243 G A rs200396882 COL7A1 Nonsynonymous SNV P457L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 18.95 264382 chr4 6863260 6863260 A G rs377057913 KIAA0232 Nonsynonymous SNV K384R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.082 264383 chr4 156136153 156136153 C T rs758076080 NPY2R Synonymous SNV S354S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 264384 chr4 90856864 90856864 T C rs528796803 MMRN1 Nonsynonymous SNV I678T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 264385 chr3 49948050 49948050 C T rs748917759 MON1A Nonsynonymous SNV R229Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 264386 chr1 35260618 35260618 C T rs146453705 GJA4 Synonymous SNV P268P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.11 264387 chr17 79894739 79894739 T C rs531874252 PYCR1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.66 264388 chr17 80043412 80043412 G A rs762619741 FASN Synonymous SNV I1356I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 264389 chr17 80046727 80046727 G C rs554712541 FASN Nonsynonymous SNV P777R 0 0 0.007 0 0 0 0 2 0 0 0 0 14.79 264390 chr17 80477918 80477918 C T rs146516291 FOXK2 Nonsynonymous SNV R52C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 32 264391 chr3 128628946 128628946 G A rs750899715 ACAD9 Nonsynonymous SNV R549Q 0 0.003 0 0 0 1 0 0 0 0 0 0 30 264392 chr1 44365273 44365273 C T rs115003742 ST3GAL3 Synonymous SNV R159R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.29 264393 chr18 22806981 22806981 C T rs114155230 ZNF521 Nonsynonymous SNV E81K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 264394 chr4 187196939 187196939 A G rs1057516695 F11 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 22.7 264395 chr18 2892366 2892366 G A rs139031307 EMILIN2 Synonymous SNV T747T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.679 264396 chr4 3076615 3076615 - CAG HTT Q38_P39insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 264397 chr18 3879186 3879186 C T DLGAP1 Nonsynonymous SNV A295T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 264398 chr4 3494846 3494846 C T rs371846002 DOK7 Nonsynonymous SNV A68V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 4.415 264399 chr18 42530796 42530796 G A rs113053616 SETBP1 Synonymous SNV P497P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 4.68 264400 chr4 103555981 103555981 C T rs372595764 MANBA Synonymous SNV P793P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 12.49 264401 chr5 140346831 140346831 G T rs569213693 PCDHAC2 Synonymous SNV S160S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.25 264402 chr5 115469842 115469842 G A rs10043852 COMMD10 Synonymous SNV V145V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 12.41 264403 chr15 101569161 101569161 C T rs747624120 LRRK1 Nonsynonymous SNV A896V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 264404 chr5 146775266 146775266 C T rs776105614 DPYSL3 Nonsynonymous SNV V608I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 264405 chr5 149755110 149755110 C T rs776667705 TCOF1 Nonsynonymous SNV P489L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.43 264406 chr5 149777959 149777959 A G rs200645401 TCOF1 Nonsynonymous SNV K1385R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 22 264407 chr5 149927917 149927917 C T rs201754480 NDST1 Synonymous SNV I761I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 264408 chr18 7002376 7002376 G A LAMA1 Synonymous SNV G1423G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 264409 chr4 66356201 66356201 G A rs368578311 EPHA5 Synonymous SNV L432L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 264410 chr4 152571030 152571030 C G FAM160A1 Nonsynonymous SNV P613A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 264411 chr16 2906144 2906144 G C rs760515703 PRSS22 Nonsynonymous SNV H74D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 264412 chr4 155287372 155287372 G A rs373297035 DCHS2 Synonymous SNV D822D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.499 264413 chr17 1678463 1678463 G A rs779920785 SERPINF1 Nonsynonymous SNV R65H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 264414 chr19 1003368 1003370 GGC - rs764907013 GRIN3B A224del 0 0 0.003 0 0 0 0 1 0 0 0 0 264415 chr1 89206831 89206831 G A PKN2 Nonsynonymous SNV R70K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 264416 chr5 168678420 168678420 A G rs146787729 SLIT3 Nonsynonymous SNV F81L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 264417 chr17 2226492 2226492 G A rs758978162 SRR Synonymous SNV Q70Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.565 264418 chr4 168040953 168040953 G A SPOCK3 Nonsynonymous SNV L13F 0 0 0 1 0 0 0.003 0 0 0 0 0 2.742 264419 chr19 10439572 10439572 G A rs377765545 RAVER1 Nonsynonymous SNV R168C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 264420 chr4 169315671 169315671 A G rs201639727 DDX60L Nonsynonymous SNV M1252T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 264421 chr16 14340434 14340434 C T rs150298259 MRTFB Synonymous SNV S428S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.43 264422 chr5 150663633 150663633 T A rs182768240 SLC36A3 Nonsynonymous SNV S316C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 264423 chr5 151170520 151170520 A G G3BP1 Nonsynonymous SNV H83R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 264424 chr4 184922505 184922505 C T STOX2 Nonsynonymous SNV P65L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 264425 chr19 1440069 1440069 G A rs886789572 RPS15 Synonymous SNV R47R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.378 264426 chr19 1483428 1483428 C T rs202047165 PCSK4 Nonsynonymous SNV V476I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 264427 chr16 20996590 20996590 C A rs755522120 DNAH3 Nonsynonymous SNV A2446S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.422 264428 chr4 187560921 187560921 C T rs115460650 FAT1 Synonymous SNV T1199T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 18.14 264429 chr4 95198274 95198274 C T SMARCAD1 Synonymous SNV S252S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 264430 chr19 1619848 1619848 C T rs750143915 TCF3 Synonymous SNV T366T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 264431 chr16 29998444 29998444 C A rs750289878 TAOK2 Nonsynonymous SNV L951I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 264432 chr19 17679509 17679509 C T COLGALT1 Synonymous SNV S272S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 264433 chr19 17885206 17885206 T C rs1032546428 FCHO1 Nonsynonymous SNV M230T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.019 264434 chr5 135216534 135216534 A G rs542172274 SLC25A48 Synonymous SNV P154P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.947 264435 chr5 180335723 180335723 G A rs980885383 BTNL8 Nonsynonymous SNV V63M 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 264436 chr5 137801632 137801632 - CAG rs764273367 EGR1 S67_G68insS 0.001 0 0 1 1 0 0.003 0 0 0 0 0 264437 chr19 2121027 2121027 C T rs753553792 AP3D1 Nonsynonymous SNV A439T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 264438 chr5 133477926 133477926 C T TCF7 Nonsynonymous SNV A89V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 264439 chr19 22155115 22155115 A G rs780663484 ZNF208 Synonymous SNV H907H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 264440 chr19 2251455 2251455 G A rs780426686 AMH Synonymous SNV P394P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.973 264441 chr5 132197844 132197844 T C rs760082149 GDF9 Nonsynonymous SNV N268D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 264442 chr5 132199864 132199864 G A rs149821575 GDF9 Nonsynonymous SNV T121I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.33 264443 chr5 74442249 74442249 G C rs1029264794 ANKRD31 Nonsynonymous SNV P996R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.237 264444 chr16 67968552 67968552 G A rs376604533 PSMB10 Nonsynonymous SNV P245S 0 0 0 2 0 0 0.005 0 0 0 0 0 19.62 264445 chr19 36244977 36244977 C T rs756876349 LIN37 Synonymous SNV P154P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 264446 chr17 27893317 27893317 C T rs141623302 ABHD15 Nonsynonymous SNV R223H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 264447 chr5 141337279 141337279 G A rs144137657 PCDH12 Synonymous SNV I46I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.74 264448 chr19 37697975 37697975 G A rs375094438 ZNF585B Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 264449 chr19 38795049 38795049 G A rs369719001 C19orf33 Synonymous SNV G19G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.825 264450 chr16 84115459 84115459 G A rs149021936 MBTPS1 Synonymous SNV I447I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 264451 chr6 106727558 106727558 T C rs745734866 ATG5 Synonymous SNV Q74Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.953 264452 chr5 150508987 150508987 G T ANXA6 Nonsynonymous SNV S268Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 264453 chr4 84350864 84350864 C T HELQ Nonsynonymous SNV M710I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 264454 chr19 3977435 3977435 C T rs772173797 EEF2 Synonymous SNV V747V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 8.993 264455 chr4 87728980 87728980 G A PTPN13 Nonsynonymous SNV R2147Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 264456 chr19 39963873 39963873 G A rs766297953 SUPT5H Synonymous SNV S759S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 264457 chr6 109787398 109787398 T A rs139491074 ZBTB24 Nonsynonymous SNV M584L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.7 264458 chr6 111695750 111695750 T C REV3L Nonsynonymous SNV M1270V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 264459 chr16 87742971 87742971 G A rs370687518 KLHDC4 Synonymous SNV G392G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 264460 chr6 116600117 116600117 T C TSPYL1 Nonsynonymous SNV I293V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 264461 chr6 116600457 116600457 G C TSPYL1 Synonymous SNV G179G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.463 264462 chr6 116600458 116600458 C T TSPYL1 Nonsynonymous SNV G179D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.592 264463 chr19 4216315 4216315 G A rs201152073 ANKRD24 Synonymous SNV P435P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.647 264464 chr5 159781821 159781821 G A rs142851168 C1QTNF2 Synonymous SNV D66D 0.003 0 0 0 4 0 0 0 0 0 0 0 7.808 264465 chr5 172197746 172197746 C A DUSP1 Nonsynonymous SNV E70D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 264466 chr19 44129234 44129234 G T rs745580510 CADM4 Synonymous SNV V308V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 264467 chr16 88967915 88967915 T C CBFA2T3 Nonsynonymous SNV T101A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 264468 chr5 176825093 176825093 T A rs754233417 SLC34A1 Nonsynonymous SNV W576R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 264469 chr5 176829675 176829675 A G F12 Nonsynonymous SNV L519P 0.002 0 0 0 2 0 0 0 0 0 0 0 34 264470 chr19 44740013 44740013 C T rs151279916 ZNF227 Nonsynonymous SNV T398I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 264471 chr6 144999655 144999655 T G rs745720587 UTRN Nonsynonymous SNV H2531Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 264472 chr17 3119039 3119039 A G OR1A1 Nonsynonymous SNV N42S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 264473 chr5 137427173 137427173 G - rs752597008 WNT8A V369Ffs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 264474 chr5 13931323 13931323 G A rs114220185 DNAH5 Nonsynonymous SNV R30W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 264475 chr4 126240504 126240504 G A FAT4 Nonsynonymous SNV V980I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 264476 chr19 48619171 48619171 G A rs1051793362 LIG1 Nonsynonymous SNV R811C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 264477 chr6 133072590 133072590 T C VNN2 Synonymous SNV K298K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.522 264478 chr6 135715924 135715924 G A AHI1 Synonymous SNV F1033F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.5 264479 chr6 161160184 161160184 G T rs4252196 PLG Synonymous SNV V654V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.208 264480 chr19 50094953 50094953 C T rs772694361 PRR12 Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 264481 chr21 47551991 47551991 G A rs367658663 COL6A2 Nonsynonymous SNV R862Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 264482 chr17 7661859 7661859 C T rs188435233 DNAH2 Nonsynonymous SNV R700C 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 23.8 264483 chr17 66883231 66883231 A G rs765293149 ABCA8 Nonsynonymous SNV M1079T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 264484 chr17 7942559 7942559 C A rs138830954 ALOX15B Nonsynonymous SNV T29N 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 25.1 264485 chr5 154193541 154193541 C - LARP1 S788Afs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 264486 chr4 17666251 17666251 G A rs201486941 FAM184B Nonsynonymous SNV P543L 0.001 0.005 0.007 2 1 2 0.005 2 0 0 0 0 13.63 264487 chr4 184585183 184585183 G A rs759175468 TRAPPC11 Nonsynonymous SNV V55M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 264488 chr6 27834753 27834753 C T rs146661906 H1-5 Synonymous SNV K185K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 264489 chr6 27834834 27834834 C T rs143393068 H1-5 Synonymous SNV K158K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 264490 chr6 27839935 27839935 G C rs147096368 H3C11 Synonymous SNV R53R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.416 264491 chr6 27925394 27925394 A G rs143223456 OR2B6 Nonsynonymous SNV I126V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.458 264492 chr6 28117287 28117287 G A rs112243146 ZKSCAN8 Synonymous SNV R148R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.67 264493 chr6 16327916 16327921 TGCTGC - ATXN1 Q207_Q208del 0 0.003 0 0 0 1 0 0 0 0 0 0 264494 chr17 17071130 17071130 C T rs887338161 MPRIP Synonymous SNV A2107A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 264495 chr19 55221897 55221897 C T rs886476316 LILRP2 0 0 0.007 0 0 0 0 2 0 0 0 0 5.932 264496 chr6 168461516 168461516 C T rs148097635 FRMD1 Nonsynonymous SNV G355R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.235 264497 chr6 35209425 35209425 G A rs141661914 SCUBE3 Nonsynonymous SNV R433Q 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 22.5 264498 chr5 176916464 176916464 C G rs562937085 PDLIM7 Nonsynonymous SNV G267R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.15 264499 chr6 17507935 17507935 G A rs142527859 CAP2 Nonsynonymous SNV V144I 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25.6 264500 chr6 36288981 36288981 T C BNIP5 Nonsynonymous SNV Q540R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.252 264501 chr17 18167657 18167657 G A rs775683542 MIEF2 Nonsynonymous SNV R315H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.031 264502 chr17 18923027 18923027 G A rs61741107 SLC5A10 Nonsynonymous SNV G444E 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 29.6 264503 chr6 39895216 39895216 G A MOCS1 Synonymous SNV F34F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.197 264504 chr6 109691639 109691639 T C rs9480941 CD164 Synonymous SNV T121T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.371 264505 chr6 109765484 109765484 C T rs35314636 MICAL1 Synonymous SNV V952V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.88 264506 chr6 109771249 109771249 G A rs35495138 MICAL1 Synonymous SNV L325L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.585 264507 chr6 109787759 109787759 G C rs2232447 ZBTB24 Synonymous SNV S463S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.459 264508 chr6 109827729 109827729 A G rs78704011 AK9 Synonymous SNV N1550N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.058 264509 chr6 109935453 109935453 G C rs114738991 AK9 Nonsynonymous SNV D514E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 264510 chr6 109954498 109954498 T C rs75582269 AK9 Nonsynonymous SNV Y321C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.158 264511 chr19 5783322 5783322 C T rs188791439 PRR22 Synonymous SNV P312P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 264512 chr6 109993170 109993170 T A rs75570676 AK9 Nonsynonymous SNV I95L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.214 264513 chr5 40853769 40853769 C T rs576218644 CARD6 Stop gain R779X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 264514 chr5 41203271 41203271 G A rs770036049 C6 Nonsynonymous SNV A21V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 264515 chr6 133070998 133070998 T G rs773025551 VNN2 Nonsynonymous SNV T182P 0.004 0 0 3 5 0 0.008 0 0 0 0 0 24.1 264516 chr6 134494481 134494481 T C rs55957552 SGK1 Synonymous SNV R144R 0.004 0 0 4 5 0 0.01 0 0 0 0 0 2.943 264517 chr18 2539080 2539080 C T rs772391590 METTL4 Nonsynonymous SNV A416T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.57 264518 chr19 6733590 6733590 G A rs768205590 GPR108 Synonymous SNV F238F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 264519 chr6 131206394 131206394 T C rs150113551 EPB41L2 Nonsynonymous SNV M157V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 264520 chr19 8150423 8150423 A C rs766295790 FBN3 Nonsynonymous SNV V2304G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 264521 chr17 39406034 39406034 C A KRTAP9-4 Nonsynonymous SNV T21N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.54 264522 chr6 47251975 47251975 C T rs199660827 TNFRSF21 Synonymous SNV P314P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 264523 chr6 159420978 159420978 G C RSPH3 Nonsynonymous SNV L11V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.969 264524 chr17 40001763 40001763 A G rs200544803 KLHL10 Nonsynonymous SNV K269R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.209 264525 chr6 74519764 74519764 G A rs186609790 CD109 Nonsynonymous SNV R1061H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 264526 chr1 100575931 100575931 C T rs371799425 SASS6 Nonsynonymous SNV A93T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 264527 chr6 80741258 80741258 A G rs140000799 TTK Synonymous SNV G531G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.73 264528 chr6 101296193 101296193 T A rs200747187 ASCC3 Nonsynonymous SNV E211V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.183 264529 chr2 120714643 120714643 A G PTPN4 Nonsynonymous SNV N708S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 264530 chr2 122363461 122363461 C A rs116427811 CLASP1 Nonsynonymous SNV R4L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23 264531 chr2 128459502 128459502 C T rs561044382 SFT2D3 Nonsynonymous SNV R134C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 264532 chr1 118693183 118693183 C T rs372710959 SPAG17 Nonsynonymous SNV A100T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.408 264533 chr1 1230833 1230833 G T rs144585204 ACAP3 Nonsynonymous SNV P603T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 264534 chr7 114619823 114619823 C T MDFIC Synonymous SNV G160G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.45 264535 chr7 11468682 11468682 C T rs529594790 THSD7A Synonymous SNV S1045S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.56 264536 chr6 138753024 138753024 A G rs992753351 NHSL1 Nonsynonymous SNV S824P 0 0 0 2 0 0 0.005 0 0 0 0 0 4.104 264537 chr6 139222155 139222155 - C ECT2L Frameshift insertion S830Ifs*6 0 0 0 2 0 0 0.005 0 0 0 0 0 264538 chr1 151105073 151105073 C A rs200137396 SEMA6C Nonsynonymous SNV G886C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 264539 chr19 3006493 3006493 G A rs371398220 TLE2 Synonymous SNV G353G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.7 264540 chr19 3019741 3019741 G A rs200839990 TLE2 Nonsynonymous SNV R54C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.1 264541 chr19 3281327 3281327 G A CELF5 Nonsynonymous SNV S245N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.08 264542 chr7 102113406 102113406 C T rs749272232 LRWD1 Synonymous SNV T466T 0 0.005 0 0 0 2 0 0 0 0 0 0 13.53 264543 chr7 132174152 132174152 C T rs142997259 PLXNA4 Nonsynonymous SNV V424I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 16.79 264544 chr1 153233697 153233697 C T rs533773105 LOR Nonsynonymous SNV S91F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.031 264545 chr6 43152468 43152468 C T rs146357794 CUL9 Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 264546 chr6 44140126 44140126 A T rs767643842 CAPN11 Nonsynonymous SNV K166M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 264547 chr17 76557929 76557929 G A rs375371085 DNAH17 Nonsynonymous SNV A568V 0 0 0 2 0 0 0.005 0 0 0 0 0 12.25 264548 chr7 141618981 141618981 C A OR9A4 Nonsynonymous SNV F102L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.9 264549 chr6 43006589 43006589 G A rs149530175 CUL7 Synonymous SNV N1561N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.6 264550 chr6 43191068 43191068 G A rs747565598 CUL9 Nonsynonymous SNV S2406N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 264551 chr6 50807976 50807976 C A TFAP2B Nonsynonymous SNV L350M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 264552 chr1 158435388 158435388 G A rs148047665 OR10K1 Nonsynonymous SNV V13I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 264553 chr1 158435866 158435866 A G rs143023872 OR10K1 Nonsynonymous SNV N172S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 264554 chr1 158687156 158687156 G A rs143760387 OR6K3 Synonymous SNV F250F 0 0 0.007 0 0 0 0 2 0 0 0 0 7.661 264555 chr1 158911792 158911792 A G rs76757333 PYHIN1 Nonsynonymous SNV H202R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 264556 chr1 161092906 161092906 C T DEDD Nonsynonymous SNV R180Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 264557 chr1 16255541 16255541 A G rs932199330 SPEN Nonsynonymous SNV R936G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 264558 chr1 163122504 163122504 C T rs866971353 RGS5 Nonsynonymous SNV G74R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 264559 chr6 76554651 76554651 A G MYO6 Nonsynonymous SNV K285R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 264560 chr7 157177642 157177642 A G DNAJB6 Nonsynonymous SNV N187S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 264561 chr5 179226248 179226248 G A rs142557156 MGAT4B Synonymous SNV H383H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.345 264562 chr6 80197183 80197183 A C LCA5 Nonsynonymous SNV S544R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 264563 chr6 74072466 74072466 G A rs144291287 KHDC3L Nonsynonymous SNV R5K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 264564 chr1 167666508 167666508 C T RCSD1 Nonsynonymous SNV S162F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 264565 chr7 16676082 16676082 - AA rs34755603 ANKMY2 0 0 0 1 0 0 0.003 0 0 0 0 0 264566 chr6 89871897 89871897 T A PM20D2 Nonsynonymous SNV I409N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 264567 chr1 169828211 169828211 A G SCYL3 Nonsynonymous SNV F428S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 264568 chr6 90449974 90449974 C T rs142783184 MDN1 Synonymous SNV G1524G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 264569 chr7 2255893 2255893 C G rs61751746 MAD1L1 Nonsynonymous SNV E144D 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 264570 chr7 23724277 23724277 T G FAM221A Nonsynonymous SNV C75W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.4 264571 chr6 90360506 90360506 G A rs762618997 MDN1 Nonsynonymous SNV R5326W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 264572 chr1 17674536 17674536 G A PADI4 Nonsynonymous SNV R383H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 264573 chr7 100550537 100550537 C A MUC3A Nonsynonymous SNV S373Y 0.003 0 0 0 3 0 0 0 0 0 0 0 8.919 264574 chr2 219530662 219530662 G A rs41272683 RNF25 Nonsynonymous SNV R184W 0 0.005 0 1 0 2 0.003 0 0 0 0 0 24.6 264575 chr1 181021587 181021587 A G MR1 Nonsynonymous SNV N229S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 264576 chr7 43594378 43594378 T C HECW1 Synonymous SNV T1532T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.949 264577 chr1 19934898 19934898 C G rs149838191 RPS14P3 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 264578 chr1 201038709 201038709 C T rs760674518 CACNA1S Nonsynonymous SNV R794H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.5 264579 chr5 70782319 70782319 C T rs200036481 BDP1 Nonsynonymous SNV R360C 0 0.005 0 0 0 2 0 0 0 0 0 0 35 264580 chr7 32612865 32612865 C G AVL9 Nonsynonymous SNV P469A 0 0.003 0 0 0 1 0 0 0 0 0 0 27 264581 chr2 238287426 238287426 C T rs765006452 COL6A3 Nonsynonymous SNV A377T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 24.4 264582 chr7 6472577 6472577 A G rs199661837 DAGLB Nonsynonymous SNV C145R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 264583 chr7 106685369 106685369 C T PRKAR2B Nonsynonymous SNV P6L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 264584 chr1 220161969 220161969 T C rs2230302 EPRS1 Nonsynonymous SNV E913G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.53 264585 chr7 133821841 133821841 A C LRGUK Synonymous SNV S121S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.03 264586 chr1 22170770 22170770 G C rs780503374 HSPG2 Nonsynonymous SNV I2830M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 264587 chr7 138854092 138854092 G A TTC26 Nonsynonymous SNV E224K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 264588 chr7 91991569 91991569 G A rs781714639 ANKIB1 Nonsynonymous SNV E490K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 264589 chr6 87968558 87968558 A G rs201719507 ZNF292 Synonymous SNV T1737T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.067 264590 chr19 3543411 3543411 C T rs559402942 C19orf71 Nonsynonymous SNV R88C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 264591 chr1 227935804 227935804 A C SNAP47 Nonsynonymous SNV T123P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 264592 chr8 100844635 100844635 C T rs745668942 VPS13B Synonymous SNV C3148C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.18 264593 chr6 97001167 97001167 C T rs368295722 UFL1 Nonsynonymous SNV H725Y 0 0 0 1 0 0 0.003 0 0 0 0 0 19.5 264594 chr1 245775265 245775265 C T rs61741293 KIF26B Synonymous SNV S695S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.42 264595 chr19 40719930 40719930 G C MAP3K10 Nonsynonymous SNV A782P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.313 264596 chr19 40719936 40719936 A C MAP3K10 Nonsynonymous SNV T784P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 264597 chr8 141559334 141559334 C T rs112555275 AGO2 Synonymous SNV P489P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.78 264598 chr7 100849696 100849696 G A rs747423129 PLOD3 Nonsynonymous SNV R695C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 264599 chr7 20682948 20682948 C T rs548933985 ABCB5 Synonymous SNV I152I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.35 264600 chr7 107746475 107746475 G T rs925490288 LAMB4 Nonsynonymous SNV D219E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.67 264601 chr8 11412932 11412932 C T rs143699141 BLK Synonymous SNV P166P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 14.99 264602 chr7 31682400 31682400 G T rs146986060 ITPRID1 Synonymous SNV S472S 0.003 0 0 0 3 0 0 0 0 0 0 0 2.243 264603 chr8 11706556 11706556 C T rs761461189 CTSB Nonsynonymous SNV G149S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 264604 chr7 21677288 21677288 T G DNAH11 Nonsynonymous SNV N1595K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.4 264605 chr1 25256162 25256162 G C rs139319032 RUNX3 Synonymous SNV L66L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.749 264606 chr1 27686450 27686450 G C rs138197184 MAP3K6 Nonsynonymous SNV P732A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 264607 chr1 27875375 27875375 G A AHDC1 Synonymous SNV A1084A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 264608 chr2 95815142 95815142 T - rs771450910 ZNF514 Y436Sfs*57 0.001 0.003 0 0 1 1 0 0 0 0 0 0 264609 chr2 97367780 97367780 G A rs368058960 FER1L5 Nonsynonymous SNV R1720Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.67 264610 chr1 32193790 32193790 G A rs77499146 ADGRB2 Nonsynonymous SNV T1469M 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.1 264611 chr1 32936624 32936624 T C rs369548777 ZBTB8B Synonymous SNV A133A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.141 264612 chr1 32937140 32937140 A G rs61735339 ZBTB8B Synonymous SNV E305E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.172 264613 chr19 10224844 10224844 C A rs139489816 P2RY11, PPAN-P2RY11 Synonymous SNV P185P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.96 264614 chr3 107799011 107799011 G A CD47 Nonsynonymous SNV T76I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 264615 chr1 3553586 3553586 G A rs146537124 WRAP73 Synonymous SNV F163F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 264616 chr7 51094303 51094303 G A rs370970848 COBL Synonymous SNV G1148G 0.001 0 0 0 1 0 0 0 0 0 0 0 9 264617 chr8 1645405 1645405 C T rs776779543 DLGAP2 Synonymous SNV F963F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.91 264618 chr1 38274718 38274718 T G C1orf122 Nonsynonymous SNV D39E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 264619 chr19 12759013 12759013 A G rs763786776 MAN2B1 Synonymous SNV N880N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.029 264620 chr7 142563253 142563253 T A EPHB6 Nonsynonymous SNV S32T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 264621 chr19 13264424 13264424 C T rs371930497 IER2 Nonsynonymous SNV R142C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 264622 chr7 5415833 5415833 G A rs377015760 TNRC18 Synonymous SNV T877T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.133 264623 chr6 28228055 28228055 C T rs939665953 NKAPL Synonymous SNV P302P 0 0.005 0 0 0 2 0 0 0 0 0 0 9.96 264624 chr7 144098303 144098303 C T rs200917107 NOBOX Nonsynonymous SNV R227H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.464 264625 chr8 23104441 23104441 A G rs775727289 CHMP7 Nonsynonymous SNV Q78R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.54 264626 chr7 149476742 149476742 C A rs114386737 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 16.49 264627 chr7 149503094 149503094 G A rs202209813 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 2.066 264628 chr19 15580277 15580277 C T rs976163305 PGLYRP2 Nonsynonymous SNV G603S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.748 264629 chr7 149514767 149514767 C G rs60993332 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 4.753 264630 chr8 145140501 145140502 AG - rs782339984 GPAA1 R493Gfs*152 0 0.003 0 0 0 1 0 0 0 0 0 0 264631 chr6 33655889 33655891 AGG - rs773399558 ITPR3 E2111del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 264632 chr7 149522163 149522163 C G rs73727642 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 5.848 264633 chr7 149523590 149523590 T C rs73727645 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 5.708 264634 chr1 47755125 47755125 T C rs149296029 STIL Synonymous SNV E335E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.349 264635 chr7 7635943 7635943 T C rs200569928 MIOS Nonsynonymous SNV V647A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 264636 chr7 150440040 150440040 G A rs61751050 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV A271A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.498 264637 chr7 150493591 150493591 C T rs28508515 TMEM176B Nonsynonymous SNV V23I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 264638 chr7 150883613 150883613 G A rs73727103 ASB10 Synonymous SNV T150T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.67 264639 chr1 62120516 62120516 C T rs567057303 MGC34796 0 0 0.003 0 0 0 0 1 0 0 0 0 7.5 264640 chr1 62550280 62550280 G C rs367578105 PATJ Nonsynonymous SNV G1446A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.2 264641 chr19 52272438 52272438 G T FPR2 Nonsynonymous SNV C176F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 264642 chr7 99217511 99217511 G T rs142601774 ZSCAN25 Synonymous SNV L94L 0.003 0 0 0 4 0 0 0 0 0 0 0 2.767 264643 chr7 20721141 20721141 G A rs147800155 ABCB5 Nonsynonymous SNV R129Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.6 264644 chr7 7571504 7571504 G A rs370084753 COL28A1 Synonymous SNV I52I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.33 264645 chr7 20795082 20795082 G A rs61999295 ABCB5 Synonymous SNV T758T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 264646 chr6 42672308 42672308 C T rs139185976 PRPH2 Nonsynonymous SNV G208D 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 24.2 264647 chr7 21630908 21630908 G A rs78653098 DNAH11 Nonsynonymous SNV E794K 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.62 264648 chr7 766412 766412 G A DNAAF5 Nonsynonymous SNV A19T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.241 264649 chr19 21299886 21299886 C T rs533104763 ZNF714 Nonsynonymous SNV T139I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.92 264650 chr7 21775289 21775289 G A rs369438218 DNAH11 Nonsynonymous SNV R2491H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 264651 chr6 43167831 43167831 G A rs147346485 CUL9 Synonymous SNV E1107E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 264652 chr19 31039257 31039257 G A rs143550497 ZNF536 Nonsynonymous SNV G911S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 27.6 264653 chr8 63976812 63976812 C T rs554118281 TTPA Nonsynonymous SNV V206I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.9 264654 chr19 32843950 32843950 C T ZNF507 Nonsynonymous SNV R72C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.89 264655 chr6 44929505 44929505 G A rs781512633 SUPT3H Stop gain R37X 0 0.003 0 0 0 1 0 0 0 0 0 0 45 264656 chr3 138186410 138186410 A G rs372958530 ESYT3 Nonsynonymous SNV I393V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 264657 chr1 7886729 7886729 A C rs755206361 PER3 Nonsynonymous SNV Q716P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 264658 chr7 29103842 29103842 C T rs35023229 CPVL Synonymous SNV E146E 0 0 0 1 0 0 0.003 0 0 0 0 0 15 264659 chr1 84963152 84963152 A G rs964579753 RPF1 Synonymous SNV X350X 0 0 0.003 0 0 0 0 1 0 0 0 0 7.009 264660 chr7 94139421 94139421 G C rs888348975 CASD1 Nonsynonymous SNV G9R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 264661 chr3 14487229 14487229 G A rs370469452 SLC6A6 Synonymous SNV A78A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.16 264662 chr7 99705193 99705193 G A rs138356641 TAF6 Synonymous SNV P607P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.07 264663 chr1 878266 878266 - C rs768396777 SAMD11 Frameshift insertion K467Qfs*72 0 0 0.003 0 0 0 0 1 0 0 0 0 264664 chr8 37696562 37696562 G A ADGRA2 Nonsynonymous SNV C783Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 264665 chr1 8921425 8921425 G T rs139671695 ENO1 Synonymous SNV A340A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.26 264666 chr3 150916346 150916346 C T rs775054911 GPR171 Synonymous SNV S276S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 264667 chr3 15529743 15529743 C T rs115201284 COLQ Synonymous SNV S97S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 17.85 264668 chr1 99771478 99771478 C A rs755026626 PLPPR4 Synonymous SNV R344R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 264669 chr20 1627767 1627767 A - rs11476974 SIRPG-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 264670 chr8 133894187 133894187 A C TG Nonsynonymous SNV S240R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 264671 chr19 39913477 39913477 G A PLEKHG2 Nonsynonymous SNV E536K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 264672 chr8 99560313 99560313 G A rs202028661 STK3 Nonsynonymous SNV T231M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 264673 chr9 117797486 117797486 G A rs763227771 TNC Synonymous SNV V1928V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 264674 chr8 144890927 144890927 C T rs374117742 SCRIB Nonsynonymous SNV R656Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 264675 chr9 119461033 119461033 G A rs141806013 TRIM32 Nonsynonymous SNV A338T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.538 264676 chr8 144997928 144997928 C T rs542184546 PLEC Nonsynonymous SNV A2043T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.11 264677 chr20 30380595 30380595 T C rs746729105 TPX2 Synonymous SNV L491L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.337 264678 chr9 125620365 125620365 C T rs148562505 RC3H2 Nonsynonymous SNV C764Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.2 264679 chr8 143856744 143856744 G A rs763843306 LYNX1 Synonymous SNV C64C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.63 264680 chr9 125797188 125797188 G A rs34751912 GPR21 Nonsynonymous SNV V115I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 264681 chr19 42497558 42497558 T A ATP1A3 Nonsynonymous SNV N9I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 264682 chr19 42778528 42778528 G T CIC Nonsynonymous SNV A865S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.39 264683 chr8 145111370 145111370 A G rs782701903 OPLAH Nonsynonymous SNV V634A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 264684 chr20 3194674 3194674 A G rs150904363 ITPA Nonsynonymous SNV N37S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 16.72 264685 chr3 196054438 196054438 C T rs776636091 TM4SF19 Synonymous SNV Q8Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.671 264686 chr20 33762590 33762590 A T rs144246091 PROCR Synonymous SNV G52G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.531 264687 chr9 114500628 114500628 T C rs150205940 SHOC1 Nonsynonymous SNV H347R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 264688 chr20 2636275 2636275 C T rs147425088 NOP56 Synonymous SNV I264I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.27 264689 chr9 116929986 116929986 C T rs371597072 COL27A1 Nonsynonymous SNV R51W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 264690 chr8 16035404 16035404 G C rs758834622 MSR1 Nonsynonymous SNV L50V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 264691 chr20 3783580 3783580 C T rs371343744 CDC25B Synonymous SNV D214D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 264692 chr3 33058254 33058254 G A rs113534264 GLB1 Synonymous SNV L345L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.89 264693 chr9 13168409 13168409 T C rs761011640 MPDZ Synonymous SNV A1070A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.771 264694 chr20 43851148 43851148 G A rs145586123 SEMG2 Nonsynonymous SNV R292H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 264695 chr20 44166646 44166646 C T rs141960100 EPPIN-WFDC6, WFDC6 Nonsynonymous SNV C60Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 264696 chr20 45633589 45633589 C G rs770491717 EYA2 Nonsynonymous SNV P55R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 264697 chr20 46318883 46318883 C T rs142401598 SULF2 Nonsynonymous SNV A242T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 264698 chr19 48342846 48342846 G A rs376827106 CRX Synonymous SNV A174A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.773 264699 chr7 104782627 104782627 G A rs149460611 SRPK2 Synonymous SNV P446P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 9.983 264700 chr7 105205803 105205803 C T rs780062646 RINT1 Stop gain R315X 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 37 264701 chr9 130257600 130257600 C T rs141542114 LRSAM1 Nonsynonymous SNV T534M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 264702 chr19 48848451 48848451 G A rs534251767 TMEM143 Nonsynonymous SNV A142V 0 0 0 1 0 0 0.003 0 0 0 0 0 24 264703 chr9 136898797 136898797 G A rs201500184 BRD3 Nonsynonymous SNV P699L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 264704 chr20 29965176 29965176 T C DEFB119 Nonsynonymous SNV E43G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 264705 chr9 137704518 137704518 C T rs771146636 COL5A1 Nonsynonymous SNV P1271L 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Uncertain significance 22.8 264706 chr20 50400989 50400989 C T rs138891224 SALL4 Nonsynonymous SNV G556R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.1 264707 chr19 49116315 49116315 C T rs35056023 FAM83E Synonymous SNV S105S 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 19.25 264708 chr19 49357342 49357342 C T rs16982323 PLEKHA4 Synonymous SNV T341T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.39 264709 chr19 49391285 49391285 G A rs112361528 TULP2 Synonymous SNV L290L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.718 264710 chr19 49391370 49391370 C T rs113182131 TULP2 Nonsynonymous SNV R262H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.89 264711 chr9 139368521 139368521 C T rs775854652 SEC16A Nonsynonymous SNV A1183T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.354 264712 chr9 131899917 131899917 G A PTPA Synonymous SNV V215V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 264713 chr20 35444660 35444660 T C SOGA1 Synonymous SNV S395S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.898 264714 chr20 5753618 5753618 A G rs760545134 SHLD1 Nonsynonymous SNV Q36R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 264715 chr3 47041486 47041486 C T rs371752213 NBEAL2 Synonymous SNV A1265A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.47 264716 chr9 139917496 139917496 T C rs773010162 ABCA2 Nonsynonymous SNV T58A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.03 264717 chr20 6031509 6031509 T C rs145098571 LRRN4 Nonsynonymous SNV D259G 0 0 0.01 0 0 0 0 3 0 0 0 0 23.6 264718 chr7 134730663 134730663 G A AGBL3 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 264719 chr20 60899505 60899505 C T rs561540996 LAMA5 Nonsynonymous SNV V1879I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.621 264720 chr7 138529175 138529175 G C KIAA1549 Nonsynonymous SNV P1780R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.5 264721 chr20 61542626 61542626 G A DIDO1 Synonymous SNV G113G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.226 264722 chr19 51483108 51483108 T A KLK7 Nonsynonymous SNV K109M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 264723 chr8 51465626 51465626 G T rs754605384 SNTG1 Nonsynonymous SNV V233F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 31 264724 chr20 62705875 62705875 C T rs750611686 RGS19 Nonsynonymous SNV A58T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 264725 chr8 8235174 8235174 C T rs770050433 PRAG1 Nonsynonymous SNV E249K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 264726 chr20 656121 656121 C T rs978678736 SCRT2 Nonsynonymous SNV G42E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.99 264727 chr21 16337674 16337674 C T rs569026862 NRIP1 Nonsynonymous SNV R947Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 264728 chr9 140108704 140108704 G A rs147626135 NDOR1 Synonymous SNV T153T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.257 264729 chr9 140161773 140161773 G T rs756994375 NELFB Synonymous SNV A488A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.003 264730 chr8 144407589 144407589 G A rs146761712 TOP1MT Nonsynonymous SNV R102C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 264731 chr9 140352121 140352121 C T NSMF Synonymous SNV A122A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.66 264732 chr21 33723059 33723059 T A rs147782087 URB1 Nonsynonymous SNV K929M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 264733 chr9 4662776 4662776 T C rs372231583 PLPP6 Nonsynonymous SNV M134T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 264734 chr9 111625196 111625196 C T rs763890352 ACTL7A Synonymous SNV I198I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 264735 chr7 154760731 154760731 C T PAXIP1 Nonsynonymous SNV V394M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 17.79 264736 chr9 105763884 105763884 T C rs144091023 CYLC2 Synonymous SNV Y14Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.668 264737 chr7 155457912 155457912 G A rs374634280 RBM33 Synonymous SNV S29S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.17 264738 chr21 38139542 38139542 G A rs375000063 HLCS Nonsynonymous SNV A646V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 264739 chr21 38444873 38444873 G A PIGP Synonymous SNV S5S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.472 264740 chr9 32784611 32784611 G A rs763118727 TMEM215 Nonsynonymous SNV G144R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 264741 chr7 21628185 21628185 T C rs759046686 DNAH11 Nonsynonymous SNV M635T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 14.08 264742 chr9 34250739 34250739 C T rs771327535 UBAP1 Synonymous SNV H514H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 264743 chr9 35043286 35043286 G C rs754948969 C9orf131 Synonymous SNV L185L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.317 264744 chr9 113233724 113233724 A G rs148847273 SVEP1 Nonsynonymous SNV I973T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.93 264745 chr9 35811216 35811216 G A rs759420251 SPAG8 Nonsynonymous SNV P276L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 264746 chr9 35957427 35957427 G A rs769590754 OR2S2 Synonymous SNV I223I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.493 264747 chr9 90342530 90342530 A G rs749548874 CTSL Synonymous SNV T4T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 264748 chr21 43979120 43979120 C T rs765779791 SLC37A1 Nonsynonymous SNV P301L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 264749 chr21 45175924 45175924 G A rs150472480 PDXK Nonsynonymous SNV V267I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 264750 chr9 96052295 96052295 C T rs4744216 WNK2 Synonymous SNV A1634A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 264751 chr21 45560878 45560878 G A GATD3A Synonymous SNV A192A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.686 264752 chr8 18079746 18079746 C T rs56379106 NAT1 Nonsynonymous SNV R64W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26.4 264753 chr9 99003081 99003081 T C HSD17B3 Nonsynonymous SNV I261V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 264754 chr8 20107455 20107455 C G rs766597097 LZTS1 Synonymous SNV S523S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 264755 chr21 47581941 47581941 C A SPATC1L Synonymous SNV V41V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 264756 chr4 113533736 113533736 G A rs140847408 ZGRF1 Nonsynonymous SNV P871S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.106 264757 chr21 47831871 47831871 C T PCNT Nonsynonymous SNV P1844S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 264758 chr9 127572232 127572232 G A rs139197654 OLFML2A Synonymous SNV A286A 0.004 0 0 0 5 0 0 0 0 0 0 0 11.91 264759 chr8 25280733 25280733 G A rs751508393 GNRH1 Synonymous SNV A42A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.214 264760 chr7 43540845 43540845 C T HECW1 Synonymous SNV P1151P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.44 264761 chr7 43906465 43906465 G A rs148764276 MRPS24 Nonsynonymous SNV R113W 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 25 264762 chr22 21311438 21311438 C T rs574206244 LINC01637 0 0 0.003 0 0 0 0 1 0 0 0 0 9.859 264763 chrX 105450390 105450390 G A PWWP3B Nonsynonymous SNV S322N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.206 264764 chr22 22324639 22324639 G A TOP3B Nonsynonymous SNV A175V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 264765 chrX 153696235 153696235 C T rs782055041 PLXNA3 Synonymous SNV A1237A 0 0 0 2 0 0 0.005 0 0 0 0 1 4.967 264766 chr20 3102636 3102636 G C rs148731933 UBOX5 Nonsynonymous SNV L217V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 264767 chr22 24483609 24483609 C T rs150974282 CABIN1 Synonymous SNV F1106F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 264768 chr7 50607673 50607673 C T rs367959876 DDC Synonymous SNV S85S 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 15.99 264769 chr8 56698315 56698315 C T rs750807302 TGS1 Synonymous SNV S68S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.241 264770 chr8 61707546 61707546 A G rs370267935 CHD7 Nonsynonymous SNV N700D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.13 264771 chr8 62415960 62415960 C T rs971525254 ASPH Synonymous SNV P716P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.64 264772 chr22 30921662 30921662 A G rs754062707 SEC14L6 Nonsynonymous SNV S283P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.047 264773 chr7 6693281 6693281 C T rs909361916 ZNF316 Nonsynonymous SNV A685V 0 0.005 0 0 0 2 0 0 0 0 0 0 12.06 264774 chr22 19423196 19423196 C G rs138400775 MRPL40 Nonsynonymous SNV T67S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 264775 chr7 73254438 73254438 G A METTL27 Nonsynonymous SNV A134V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.12 264776 chrX 152807139 152807139 T C ATP2B3 Nonsynonymous SNV V140A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 264777 chr22 36685209 36685209 C T rs149271663 MYH9 Synonymous SNV A1493A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.6 264778 chr8 90783976 90783976 G T rs778062446 RIPK2 Nonsynonymous SNV V217F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 264779 chr10 101563785 101563785 C T rs17216198 ABCC2 Synonymous SNV L407L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.03 264780 chr7 82595147 82595147 T C PCLO Synonymous SNV E1319E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 264781 chr22 24459524 24459524 C T rs567017068 CABIN1 Nonsynonymous SNV S550L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 264782 chr10 103917959 103917959 C T rs200844593 NOLC1 Nonsynonymous SNV P199S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 264783 chr10 105215443 105215443 C T rs371599718 CALHM1 Nonsynonymous SNV R206Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 264784 chr9 19316785 19316786 AG - DENND4C E586Gfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 264785 chrX 54950133 54950133 G A rs771034490 TRO Nonsynonymous SNV A390T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 264786 chr20 39992426 39992426 G A rs756228065 EMILIN3 Synonymous SNV P122P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 264787 chr22 46719132 46719132 G T rs201709046 GTSE1 Nonsynonymous SNV R493L 0 0 0.007 0 0 0 0 2 0 0 0 0 26.9 264788 chr9 116971982 116971982 G A rs752172699 COL27A1 Nonsynonymous SNV G766S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 264789 chr20 45358098 45358098 A G rs548796220 SLC2A10 Synonymous SNV A506A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.68 264790 chr22 50885864 50885864 G A rs547807779 SBF1 Nonsynonymous SNV R1799C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 264791 chr22 50900053 50900053 G A rs374897003 SBF1 Nonsynonymous SNV A914V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.96 264792 chr22 50944476 50944476 A G LMF2 Synonymous SNV A229A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.224 264793 chr9 2622146 2622146 - CGGCGG rs555425887 VLDLR-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 264794 chr4 52943055 52943055 G T SPATA18 Nonsynonymous SNV R65L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 264795 chr2 103119980 103119980 C G SLC9A4 Nonsynonymous SNV A265G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 264796 chr10 11505248 11505248 T C rs746050192 USP6NL Nonsynonymous SNV D577G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.393 264797 chr2 113322053 113322053 G A rs564653507 POLR1B Nonsynonymous SNV A364T 0 0 0.007 0 0 0 0 2 0 0 0 0 20.5 264798 chr9 88633229 88633229 T C NAA35 Synonymous SNV S611S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.71 264799 chr10 116014711 116014711 G A VWA2 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 264800 chr4 6862904 6862904 A G rs200168051 KIAA0232 Synonymous SNV E265E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.783 264801 chr10 135081560 135081560 C T rs201486588 ADAM8 Nonsynonymous SNV R644H 0 0 0 1 0 0 0.003 0 0 0 0 0 23 264802 chr2 121727987 121727987 C G rs780747425 GLI2 Synonymous SNV P288P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 264803 chr9 131516095 131516095 C T rs145688275 ZER1 Nonsynonymous SNV R101H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 264804 chr9 132687257 132687257 C G rs143297659 FNBP1 Synonymous SNV P323P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.22 264805 chr2 135722473 135722473 G A rs775312402 MAP3K19 Stop gain R1199X 0 0 0.003 0 0 0 0 1 0 0 0 0 45 264806 chr2 135738802 135738802 A G rs763964181 MAP3K19 Nonsynonymous SNV I1057T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 264807 chr10 24893265 24893265 G A rs758852451 ARHGAP21 Synonymous SNV H686H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 264808 chr2 152127257 152127257 C T rs757605388 NMI Nonsynonymous SNV V292M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 264809 chrX 129519412 129519412 A G GPR119 Nonsynonymous SNV S4P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 264810 chrX 132351847 132351847 G A rs200079727 TFDP3 Synonymous SNV H147H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.883 264811 chr10 134648212 134648212 G C CFAP46 Nonsynonymous SNV P2271R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.869 264812 chr10 135033611 135033611 G A rs779963828 KNDC1 Synonymous SNV K1671K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 264813 chr9 136507395 136507395 G A rs559784553 DBH Nonsynonymous SNV G185S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.109 264814 chr10 13698906 13698906 G A rs370425803 FRMD4A Nonsynonymous SNV R586C 0.003 0 0 0 3 0 0 0 0 0 0 0 24 264815 chr10 14951105 14951105 C T rs746552030 DCLRE1C Nonsynonymous SNV E346K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 25.3 264816 chrX 153043860 153043860 G A rs201705898 PLXNB3 Synonymous SNV A1828A 0.004 0 0 0 5 0 0 0 1 0 0 0 5.257 264817 chrX 67943578 67943578 T A STARD8 Nonsynonymous SNV D890E 0.002 0 0 0 2 0 0 0 1 0 0 0 21.4 264818 chr21 38529059 38529059 A G TTC3 Nonsynonymous SNV K226R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.533 264819 chr21 39755610 39755610 G C ERG Synonymous SNV R293R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.103 264820 chr2 171686016 171686016 G C rs138838552 GAD1 Nonsynonymous SNV E59D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 264821 chr21 41173190 41173190 G A rs142105354 IGSF5 Nonsynonymous SNV R377Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.939 264822 chr21 42773904 42773906 TAT - rs771243268 MX2 I476del 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 264823 chr10 25314127 25314127 C T rs143076199 THNSL1 Nonsynonymous SNV P659S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 264824 chrX 106456207 106456207 C G rs151010999 PIH1D3 Synonymous SNV A34A 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 4.17 264825 chr9 140196168 140196168 G C rs148914532 NRARP Synonymous SNV V71V 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 8.504 264826 chr10 50686456 50686456 G A rs368188837 ERCC6 Nonsynonymous SNV R744W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 264827 chr9 14747016 14747016 G A FREM1 Synonymous SNV L501L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.42 264828 chr5 112337139 112337139 A G rs369984345 DCP2 Nonsynonymous SNV K224R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 264829 chrX 32305808 32305808 T C rs777836766 DMD Nonsynonymous SNV D702G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 264830 chr2 182374455 182374455 G A rs199750071 ITGA4 Nonsynonymous SNV S589N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.747 264831 chr9 215284 215284 C G DOCK8-AS1 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 4.898 264832 chr10 45919586 45919586 A G rs568327472 ALOX5 Nonsynonymous SNV T218A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 264833 chr2 197951439 197951439 G A rs562843246 ANKRD44 Synonymous SNV S427S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 264834 chr9 33466672 33466672 C G rs79327731 NOL6 Synonymous SNV A662A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.877 264835 chrX 67937628 67937628 G T STARD8 Nonsynonymous SNV W211L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 264836 chr2 20132097 20132097 C T rs148592305 WDR35 Nonsynonymous SNV E924K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 264837 chr9 34256465 34256465 C A rs73494718 KIF24 Nonsynonymous SNV G1047V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 25.9 264838 chr9 34485237 34485237 C T rs16931549 DNAI1 Nonsynonymous SNV A60V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 23.6 264839 chrX 71359290 71359290 G A rs866688551 NHSL2 Nonsynonymous SNV S631N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.644 264840 chr10 102683920 102683920 C T rs150772167 SLF2 Nonsynonymous SNV R388C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 264841 chr9 35753657 35753657 G A rs75446899 MSMP Nonsynonymous SNV T80M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 264842 chr9 35869643 35869643 G A rs74811550 OR13J1 Synonymous SNV Y252Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.936 264843 chr9 37541332 37541332 C A rs201749348 FBXO10 Nonsynonymous SNV G145V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.25 264844 chr10 108337228 108337228 G T SORCS1 Nonsynonymous SNV P1153T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 264845 chr10 101657890 101657890 T C rs375164133 DNMBP Nonsynonymous SNV K590R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 264846 chr10 105145240 105145240 G A rs993857208 TAF5 Nonsynonymous SNV V608I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 264847 chr22 23237792 23237792 A G rs147661812 IGLL5 Nonsynonymous SNV K113R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 264848 chr2 21364515 21364515 C T rs753743075 TDRD15 Synonymous SNV Y1392Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.065 264849 chr2 216877987 216877987 G T MREG Nonsynonymous SNV R22S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 264850 chr8 59727975 59727975 C T rs369635293 TOX Synonymous SNV P438P 0 0.005 0 0 0 2 0 0 0 0 0 0 12.59 264851 chr10 117001393 117001393 C T ATRNL1 Synonymous SNV Y522Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.993 264852 chr10 115365998 115365998 G T rs199629781 NRAP Nonsynonymous SNV T1213K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 264853 chr22 26860352 26860352 G A rs773931864 HPS4 Nonsynonymous SNV T410M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 264854 chr2 219892409 219892422 AGGCAGTTGGGGTG - CFAP65 H656Lfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 264855 chr10 120801697 120801726 CCTCGCCTGGGACCCCGGTCATCATCCATG - EIF3A M1103_G1112del 0.001 0 0 0 1 0 0 0 0 0 0 0 264856 chr10 89574207 89574207 T C ATAD1 Synonymous SNV E50E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.875 264857 chr10 116075474 116075474 C T rs766066704 AFAP1L2 Nonsynonymous SNV G153S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.374 264858 chr2 220371119 220371119 G T rs188765261 GMPPA Nonsynonymous SNV K379N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.7 264859 chr5 145838731 145838731 - CAGGTCCAGGCC rs762319496 TCERG1 Q254_A255insVQAQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 264860 chr10 95097632 95097632 A G rs34406474 MYOF Synonymous SNV A1446A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.21 264861 chr10 120802165 120802165 C G EIF3A Nonsynonymous SNV R956P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 264862 chr8 86049709 86049709 A G rs574150443 LRRCC1 Synonymous SNV L401L 0 0.005 0 0 0 2 0 0 0 0 0 0 6.411 264863 chr8 87076694 87076694 G A rs148482918 PSKH2 Nonsynonymous SNV R118C 0 0.005 0 0 0 2 0 0 0 0 0 0 10.41 264864 chr10 124740136 124740136 T C PSTK Synonymous SNV G47G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.423 264865 chr10 124758040 124758043 ACTA - IKZF5 S34Gfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 264866 chr10 125521610 125521610 C T rs772873539 CPXM2 Nonsynonymous SNV G519S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 264867 chr10 125521616 125521616 G T CPXM2 Nonsynonymous SNV Q517K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 264868 chr10 134041501 134041501 G A rs149194063 STK32C Synonymous SNV H163H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.475 264869 chr2 235950264 235950264 G A SH3BP4 Nonsynonymous SNV R284Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 264870 chr10 134755970 134755970 G A rs528886432 CFAP46 Stop gain Q7X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 264871 chr10 135103451 135103451 C T rs145657678 TUBGCP2 Nonsynonymous SNV E283K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 264872 chrX 141290950 141290950 G C rs35094955 MAGEC2 Nonsynonymous SNV T275S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.1 264873 chr9 115408091 115408091 G A rs751244762 KIAA1958 Nonsynonymous SNV D445N 0 0.005 0 0 0 2 0 0 0 0 0 0 32 264874 chr10 134623929 134623929 G A rs138871633 CFAP46 Stop gain R2550X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 264875 chr22 45283972 45283972 G A PHF21B Synonymous SNV A302A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.348 264876 chr10 134726701 134726701 C T rs978324137 CFAP46 Nonsynonymous SNV G728R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 264877 chr10 99771030 99771030 C T rs201348193 CRTAC1 Nonsynonymous SNV R30Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 264878 chr10 22498260 22498260 G T rs762221139 EBLN1 Nonsynonymous SNV A218E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 264879 chrX 25025395 25025395 G A rs587783185 ARX Synonymous SNV D427D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.183 264880 chr10 26482160 26482160 A G rs147376000 MYO3A Nonsynonymous SNV I1489V 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.966 264881 chr10 27366408 27366408 G A rs770877386 ANKRD26 Synonymous SNV S312S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.8 264882 chr10 27687428 27687428 G A rs180810238 PTCHD3 Nonsynonymous SNV A700V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.781 264883 chr2 27598471 27598471 C T rs147391609 SNX17 Synonymous SNV S266S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.977 264884 chr10 3178676 3178676 C T PFKP Synonymous SNV L487L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 264885 chrX 30872582 30872582 G A rs191105100 TAB3 Synonymous SNV Y400Y 0 0 0 2 0 0 0.005 0 0 0 0 1 7.212 264886 chr2 3391431 3391431 C G TRAPPC12 Nonsynonymous SNV P13A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.116 264887 chr10 46147437 46147437 C T rs138384835 ZFAND4 Nonsynonymous SNV G102D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 264888 chr2 39452999 39452999 G A rs61744520 CDKL4 Synonymous SNV L91L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.358 264889 chrX 63410414 63410414 G C AMER1 Nonsynonymous SNV S918C 0 0 0 2 0 0 0.005 0 0 0 0 1 17.32 264890 chrX 64738078 64738078 T A LAS1L Nonsynonymous SNV K513N 0 0 0 2 0 0 0.005 0 0 0 0 1 0.003 264891 chr2 40342690 40342690 C T rs184171310 SLC8A1 Synonymous SNV A839A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.68 264892 chr2 43455206 43455206 C G rs564412441 LINC01126 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 264893 chr2 71304720 71304720 C T rs762376473 NAGK Synonymous SNV I215I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 264894 chr10 55582549 55582549 A C PCDH15 Nonsynonymous SNV M1606R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 264895 chr10 61829480 61829480 G A rs201547988 ANK3 Nonsynonymous SNV T3720M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 264896 chr5 66055573 66055573 C T rs200785678 MAST4 Nonsynonymous SNV R134W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 264897 chr9 139264803 139264803 G C rs757648134 CARD9 Synonymous SNV A298A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.144 264898 chr11 118779325 118779325 C T rs777602210 BCL9L Synonymous SNV P22P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.8 264899 chrX 154212972 154212972 C T F8 Synonymous SNV R259R 0 0 0 2 0 0 0.005 0 0 0 0 1 14.52 264900 chr11 133939018 133939018 C T rs771822749 JAM3 Nonsynonymous SNV R14W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 264901 chr10 71883709 71883709 G A rs41277976 AIFM2 Synonymous SNV D44D 0.003 0 0.007 2 4 0 0.005 2 0 0 0 0 6.358 264902 chr10 72358728 72358728 G A rs775966864 PRF1 Nonsynonymous SNV T250M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 264903 chr10 73046546 73046546 C T rs112144078 UNC5B Nonsynonymous SNV S218L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.06 264904 chr10 75632766 75632766 G C rs774447392 CAMK2G Synonymous SNV T47T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.41 264905 chr10 91222353 91222353 C T rs192927493 SLC16A12-AS1 0.003 0 0.007 0 4 0 0 2 0 0 0 0 14.98 264906 chr9 2643423 2643423 A G VLDLR Nonsynonymous SNV K197E 0.001 0.008 0 0 1 3 0 0 0 0 0 0 11.75 264907 chr10 96336523 96336523 G A rs112321661 HELLS Synonymous SNV T193T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.63 264908 chr10 93773551 93773551 G A BTAF1 Nonsynonymous SNV R1480Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 264909 chr11 2424438 2424438 C A TSSC4 Nonsynonymous SNV A192D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 18.27 264910 chr9 35398964 35398964 G A rs758739667 UNC13B Nonsynonymous SNV A884T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.78 264911 chr11 2594153 2594153 C T rs760047145 KCNQ1 Synonymous SNV D286D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 13.79 264912 chr9 35853597 35853597 C T rs201532987 TMEM8B Synonymous SNV A845A 0 0.008 0 0 0 3 0 0 0 0 0 0 16.02 264913 chr9 36276952 36276952 G A rs374252190 GNE Nonsynonymous SNV R30C 0 0.008 0 0 0 3 0 0 0 0 0 0 7.599 264914 chr10 122618245 122618245 G A rs372051040 WDR11 Nonsynonymous SNV V97I 0 0.003 0 0 0 1 0 0 0 0 0 0 13 264915 chr3 126138618 126138618 G A rs149344950 CFAP100 Synonymous SNV E290E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.422 264916 chr3 126155168 126155168 C A CFAP100 Nonsynonymous SNV P586Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 264917 chr10 99219898 99219898 C T rs372694521 MMS19 Nonsynonymous SNV R756H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 264918 chr3 126220723 126220724 AC - UROC1 V324Pfs*214 0 0 0.003 0 0 0 0 1 0 0 0 0 264919 chr10 99517040 99517040 C T rs368208975 ZFYVE27 Nonsynonymous SNV S229L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 264920 chr10 99344657 99344657 C T HOGA1 Nonsynonymous SNV T66I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 264921 chr6 114181162 114181162 C T MARCKS Nonsynonymous SNV P136S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 264922 chr10 128817086 128817086 G A rs754962139 DOCK1 Synonymous SNV E438E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 264923 chr11 44331558 44331558 C T ALX4 Nonsynonymous SNV A19T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 264924 chr11 1017695 1017695 G A rs766150493 MUC6 Synonymous SNV H1702H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.547 264925 chr10 13481174 13481175 AG - rs10590401 BEND7 *469delinsKLSCLFMCVCITHLSTGI* 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 264926 chr11 46774869 46774869 T C rs905831862 CKAP5 Nonsynonymous SNV N1623S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.41 264927 chr11 46896636 46896636 G A rs150681693 LRP4 Nonsynonymous SNV S1315L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.23 264928 chr3 142281761 142281761 T C rs182268224 ATR Synonymous SNV R161R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Likely benign 0.052 264929 chr3 148459830 148459830 G A rs143432118 AGTR1 Synonymous SNV T336T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.751 264930 chr11 105923686 105923686 G C KBTBD3 Nonsynonymous SNV S498C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 264931 chrX 129804064 129804064 C T rs769787314 ENOX2 Nonsynonymous SNV R190H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 264932 chr11 48164560 48164560 G A rs776705078 PTPRJ Nonsynonymous SNV G845R 0.002 0 0 0 2 0 0 0 0 0 0 0 33 264933 chrX 153581562 153581562 G C FLNA Nonsynonymous SNV F2003L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 264934 chr3 186915770 186915770 C T rs985028628 LOC101929106 0 0 0.003 0 0 0 0 1 0 0 0 0 4.768 264935 chr10 73476019 73476019 G A rs114561565 C10orf105 Nonsynonymous SNV P26S 0 0 0 3 0 0 0.008 0 0 0 0 0 1.341 264936 chrX 20153857 20153857 T G EIF1AX Nonsynonymous SNV K68T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 264937 chr11 12183957 12183957 G C rs56834315 MICAL2 Synonymous SNV T85T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.906 264938 chr10 75535234 75535234 G A rs570572501 FUT11 Synonymous SNV S464S 0 0 0 3 0 0 0.008 0 0 0 0 0 4.906 264939 chr11 120099657 120099657 C T OAF Nonsynonymous SNV H210Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 264940 chr11 12316367 12316367 T C rs199574730 MICALCL Synonymous SNV P463P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 264941 chr11 118922174 118922174 C T HYOU1 Nonsynonymous SNV G501D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 264942 chr11 118980875 118980875 A C C2CD2L Nonsynonymous SNV H139P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 264943 chr11 120929101 120929101 C T rs753926026 TBCEL Synonymous SNV L254L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.95 264944 chrX 48547336 48547336 G A rs782602857 WAS Nonsynonymous SNV G407R 0 0.008 0 0 0 3 0 0 0 1 0 0 Uncertain significance 7.351 264945 chr10 88213414 88213414 A G rs138734083 WAPL Synonymous SNV N938N 0 0 0 2 0 0 0.005 0 0 0 0 0 10.45 264946 chr11 123893755 123893755 C T rs750618189 OR10G9 Synonymous SNV L12L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.908 264947 chr3 32860125 32860125 G T rs781320370 TRIM71 Nonsynonymous SNV A185S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 264948 chr11 133794731 133794731 G A rs749101535 IGSF9B Synonymous SNV A701A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 264949 chr10 65370041 65370041 A G rs10995569 REEP3 Nonsynonymous SNV Q171R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.345 264950 chr11 55563791 55563791 C T OR5D14 Nonsynonymous SNV H254Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.247 264951 chr3 39185734 39185734 C T rs757183769 CSRNP1 Nonsynonymous SNV R245Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 264952 chr3 42544250 42544250 C T rs1055941562 VIPR1 Nonsynonymous SNV P8L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 264953 chr11 17801128 17801128 G A rs758088373 KCNC1 Nonsynonymous SNV G544R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 22.9 264954 chr6 36689089 36689089 C T rs572512485 RAB44 Nonsynonymous SNV P393L 0 0.003 0 0 0 1 0 0 0 0 0 0 21 264955 chr11 130343566 130343566 C A rs111287791 ADAMTS15 Synonymous SNV A901A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 264956 chr11 134119811 134119811 G A rs749920385 THYN1 Nonsynonymous SNV R99W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 264957 chr3 45048962 45048962 G A EXOSC7 Synonymous SNV S222S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 264958 chr11 129752525 129752525 G A NFRKB Synonymous SNV A326A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 264959 chr3 47164465 47164465 C T rs375514539 SETD2 Nonsynonymous SNV R510H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 264960 chr6 43113060 43113060 C T rs758503754 PTK7 Nonsynonymous SNV R714W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 264961 chr3 49044234 49044234 C T P4HTM Nonsynonymous SNV A529V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 264962 chr11 17596276 17596276 G C OTOG Nonsynonymous SNV C780S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 264963 chr11 56185548 56185548 C T OR5R1 Nonsynonymous SNV R54Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.15 264964 chr3 51750075 51750075 T C GRM2 Synonymous SNV I384I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.845 264965 chr11 20959374 20959374 G A rs771961538 NELL1 Nonsynonymous SNV R290Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 264966 chr3 52089926 52089926 C T rs762003533 DUSP7 Nonsynonymous SNV V153M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 264967 chr3 52431051 52431051 C T DNAH1 Synonymous SNV Y3926Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.818 264968 chr3 52506396 52506396 G A NISCH Synonymous SNV K217K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 264969 chr6 52850278 52850278 G A GSTA4 Synonymous SNV L81L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 264970 chr3 57291010 57291010 C T APPL1 Nonsynonymous SNV S393L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 264971 chr3 58377562 58377562 G A rs56401437 PXK Synonymous SNV L64L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.23 264972 chr3 64617572 64617572 T C rs202089780 ADAMTS9 Synonymous SNV S707S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.263 264973 chr3 71247221 71247221 T C FOXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.323 264974 chr11 3121473 3121473 C T rs201682860 OSBPL5 Synonymous SNV S444S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 264975 chr11 47470384 47470384 C T rs121909254 RAPSN Nonsynonymous SNV V45M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely pathogenic 33 264976 chr4 100574299 100574299 C T rs569280839 C4orf54 Nonsynonymous SNV G503R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.881 264977 chr6 89888668 89888668 C T rs200988696 GABRR1 Nonsynonymous SNV D404N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 264978 chr11 64001470 64001470 - CTGCTCC rs758157074 DNAJC4 Frameshift insertion V218Afs*59 0.002 0 0 0 2 0 0 0 0 0 0 0 264979 chr11 64010962 64010962 C G rs148690847 FKBP2 Synonymous SNV S108S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.6 264980 chr11 48286247 48286247 C G rs773901923 OR4X1 Nonsynonymous SNV L279V 0.003 0 0 0 3 0 0 0 0 0 0 0 12.38 264981 chr4 114286333 114286333 G C rs886059017 ANK2 Nonsynonymous SNV S767T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.6 264982 chr11 64627786 64627786 C T rs375914175 EHD1 Synonymous SNV L175L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.29 264983 chr4 147824704 147824704 T C rs373103623 TTC29 Nonsynonymous SNV E193G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 264984 chr11 55322377 55322377 G T OR4C15 Nonsynonymous SNV G145W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 264985 chr11 66625910 66625910 G A LRFN4 Nonsynonymous SNV S232N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.23 264986 chr11 67177148 67177148 C T rs763243235 TBC1D10C Nonsynonymous SNV R321W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 264987 chr4 159566258 159566258 A G RXFP1 Nonsynonymous SNV K390R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 264988 chr7 100648086 100648086 C T rs142564279 MUC12 Nonsynonymous SNV P4748S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.304 264989 chr11 18451339 18451339 G A rs139647819 LDHC Synonymous SNV Q100Q 0 0 0 2 0 0 0.005 0 0 0 0 0 1.159 264990 chr11 71807767 71807767 A C rs188080974 LRTOMT 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 264991 chr11 6977597 6977597 A G rs376438882 ZNF215 Synonymous SNV Q225Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.978 264992 chr11 2608868 2608868 C A rs756413033 KCNQ1 Synonymous SNV A399A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 9.814 264993 chr11 1263495 1263495 C T rs61746195 MUC5B Synonymous SNV D1795D 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 15.08 264994 chr7 130827699 130827699 C T rs79254850 MKLN1 Nonsynonymous SNV R10W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 10.06 264995 chr4 3107140 3107140 C T rs184820567 HTT Synonymous SNV H195H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 264996 chr4 3590824 3590825 AC - rs10609465 LINC00955 0 0 0.014 0 0 0 0 4 0 0 1 0 264997 chr11 59559653 59559653 G A rs183505688 STX3 Nonsynonymous SNV R144H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 264998 chr4 41640952 41640952 C T rs143603745 LIMCH1 Synonymous SNV Y159Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 264999 chr11 18763945 18763945 T C rs762519061 PTPN5 Nonsynonymous SNV M173V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 265000 chr11 57188513 57188513 G A rs762689876 SLC43A3 Nonsynonymous SNV R155C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 265001 chr11 5701052 5701052 C T rs141805034 TRIM5 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 265002 chr11 19247042 19247042 G A rs755593331 E2F8 Nonsynonymous SNV P716L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 265003 chr7 1484834 1484834 G A rs150837160 MICALL2 Nonsynonymous SNV A291V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 265004 chr11 94322369 94322369 G A rs199802393 PIWIL4 Nonsynonymous SNV E333K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 265005 chr12 101755787 101755787 - AAT UTP20 N1914_K1915insN 0.003 0.003 0 0 4 1 0 0 0 0 0 0 265006 chr12 100708272 100708272 C T rs769406364 SCYL2 Synonymous SNV P325P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 265007 chr12 102271696 102271696 C A rs968994449 DRAM1 Synonymous SNV I43I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.77 265008 chr11 3249657 3249657 C T rs758199266 MRGPRE Nonsynonymous SNV A125T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.24 265009 chr11 3720391 3720391 T C rs117926101 NUP98 Synonymous SNV K1263K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.004 265010 chr4 77227929 77227929 G A rs779464417 STBD1 Nonsynonymous SNV A3T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 265011 chr11 62494488 62494488 G A HNRNPUL2 Synonymous SNV G47G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 265012 chr11 45937340 45937340 G A rs146476007 PEX16 Synonymous SNV C91C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.98 265013 chr11 67205903 67205903 C T rs147206539 CORO1B Nonsynonymous SNV D472N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 265014 chr11 6432242 6432242 G A APBB1 Synonymous SNV G112G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.791 265015 chr11 64597201 64597201 G A rs55975541 CDC42BPG Nonsynonymous SNV R1237W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 265016 chr11 64695360 64695360 G A rs117110422 PPP2R5B Synonymous SNV S161S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 265017 chr7 27832792 27832792 A G rs759055909 TAX1BP1 Synonymous SNV Q300Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.853 265018 chr7 30008672 30008672 A C rs770454790 SCRN1 Synonymous SNV A4A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.19 265019 chr7 31683331 31683331 G A rs146267805 ITPRID1 Nonsynonymous SNV V783I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 265020 chr11 1093641 1093641 T C rs9735156 MUC2 Synonymous SNV T1820T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 265021 chr7 35288378 35288378 G A TBX20 Synonymous SNV I152I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.34 265022 chr12 122684804 122684804 A T LRRC43 Nonsynonymous SNV H473L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 265023 chr7 37955756 37955756 C A rs146580598 SFRP4 Synonymous SNV L128L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 265024 chr12 13061444 13061444 C T rs373232641 GPRC5A Synonymous SNV I87I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 265025 chr12 124319993 124319993 G A DNAH10 Nonsynonymous SNV S1489N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 265026 chr11 66103519 66103519 C G RIN1 Nonsynonymous SNV R38P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 265027 chr12 132547093 132547093 - CAGCAGCAGCAGCAGCAGCAG EP400 Q2748_T2749insQQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 265028 chr11 7686754 7686754 C G rs112522871 CYB5R2 Nonsynonymous SNV V228L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.82 265029 chr11 7689727 7689727 T A rs79389241 CYB5R2 Nonsynonymous SNV M152L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.9 265030 chr11 5510458 5510458 C T rs536634174 OR52D1 Synonymous SNV H174H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.84 265031 chr11 55432668 55432668 A C rs61729625 OR4C6 Nonsynonymous SNV E9A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.87 265032 chr11 7982031 7982031 C T rs74451065 NLRP10 Synonymous SNV E376E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.623 265033 chr11 55735918 55735918 A G OR10AG1 Nonsynonymous SNV F8L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 265034 chr12 234840 234840 C A IQSEC3 Nonsynonymous SNV S222Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 265035 chr12 33031888 33031888 C T rs149542398 PKP2 Nonsynonymous SNV R101H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.7 265036 chr12 102589973 102589973 C T rs145837731 PARPBP Synonymous SNV Y467Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.883 265037 chr12 106712216 106712216 A G rs753646435 TCP11L2 Nonsynonymous SNV I130V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 265038 chr12 48458872 48458872 T C SENP1 Synonymous SNV E417E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.142 265039 chr12 103260380 103260380 T - rs199475661 PAH Y168Sfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 265040 chr5 151784001 151784001 T C rs778545109 NMUR2 Nonsynonymous SNV Y225C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 265041 chr11 9080916 9080916 C A SCUBE2 Nonsynonymous SNV V342L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 265042 chr7 92099275 92099275 C T rs748002651 ERVW-1 Nonsynonymous SNV G141S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.458 265043 chr7 92826820 92826820 C T HEPACAM2 Stop gain W360X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 265044 chr7 92844886 92844886 T C rs370880461 HEPACAM2 Synonymous SNV Q169Q 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.004 265045 chr12 110397715 110397715 C T rs756385097 GIT2 Nonsynonymous SNV V346I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 265046 chr12 112237680 112237680 G A rs373059460 MIR6761 0.001 0 0 0 1 0 0 0 0 0 0 0 1.74 265047 chr5 158749469 158749469 G A rs767350741 IL12B Nonsynonymous SNV R139C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 265048 chr12 50052307 50052307 T A rs201183858 FMNL3 Nonsynonymous SNV I175F 0 0 0 1 0 0 0.003 0 0 0 0 0 22 265049 chr5 167489119 167489119 G A rs756284185 TENM2 Nonsynonymous SNV R223Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 265050 chr12 50745924 50745924 T C rs34283706 FAM186A Nonsynonymous SNV E1564G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 265051 chr12 52778854 52778854 G A KRT84 Synonymous SNV L172L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.389 265052 chr12 101728240 101728240 C T UTP20 Nonsynonymous SNV T1200I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 265053 chr5 176710890 176710890 A G NSD1 Nonsynonymous SNV T2038A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 265054 chr5 176884682 176884682 G C DBN1 Nonsynonymous SNV P350R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 265055 chr5 176931211 176931211 C T rs778508885 DOK3 Nonsynonymous SNV G366S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.059 265056 chr12 53880909 53880909 C T MAP3K12 Synonymous SNV G89G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.08 265057 chr5 22078770 22078770 A G CDH12 Nonsynonymous SNV C6R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 265058 chr12 13221607 13221607 T A rs140271825 FAM234B Nonsynonymous SNV F444I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 265059 chr5 39382773 39382773 T C rs148242258 DAB2 Nonsynonymous SNV I409V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.2 265060 chr12 133502017 133502017 C T rs141509905 ZNF605 Nonsynonymous SNV G654E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 265061 chr12 6753641 6753641 C T ACRBP Synonymous SNV E202E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.127 265062 chr5 52397325 52397325 T A rs555716628 MOCS2 Nonsynonymous SNV N81Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 265063 chr12 7076709 7076709 C G rs377657902 SCARNA12 0.001 0 0 0 1 0 0 0 0 0 0 0 5.513 265064 chr5 54603241 54603241 - CGGCAG rs767467590 DHX29 A53_G54insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 265065 chr12 75900298 75900298 T C KRR1 Nonsynonymous SNV Q162R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 265066 chr5 65346668 65346668 A G ERBIN Nonsynonymous SNV N654S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 265067 chr12 68726016 68726016 G C rs199537908 MDM1 Nonsynonymous SNV R4G 0 0 0 1 0 0 0.003 0 0 0 0 0 33 265068 chr12 130921618 130921618 G A rs201176049 RIMBP2 Synonymous SNV P608P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.675 265069 chr8 144999084 144999084 G A rs537901575 PLEC Synonymous SNV R1657R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 7.907 265070 chr12 32908378 32908378 A G rs778762702 YARS2 Nonsynonymous SNV L144P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 265071 chr12 133158787 133158787 G A rs977742962 FBRSL1 Synonymous SNV A755A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 265072 chr12 427359 427359 G A KDM5A Nonsynonymous SNV A937V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 265073 chr12 96437127 96437127 T C LTA4H Synonymous SNV K9K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 265074 chr5 79855159 79855159 C A rs372044346 ANKRD34B Nonsynonymous SNV G227V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 265075 chr13 107823070 107823070 T A rs79124416 FAM155A Nonsynonymous SNV K384N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.013 265076 chr12 50386142 50386142 A G rs143026190 RACGAP1 Synonymous SNV H430H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.371 265077 chr12 26277507 26277507 T C rs368411883 BHLHE41 Nonsynonymous SNV Y24C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 265078 chr12 43858502 43858502 T G ADAMTS20 Synonymous SNV P467P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.458 265079 chr12 49315778 49315778 T G FKBP11 Nonsynonymous SNV K97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 265080 chr6 110426612 110426612 T C WASF1 Synonymous SNV T237T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 265081 chr13 106142194 106142194 G A rs150446061 DAOA Nonsynonymous SNV G48S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.267 265082 chr12 49169126 49169126 C T rs200747404 ADCY6 Nonsynonymous SNV R647Q 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.4 265083 chr8 4495058 4495058 G C CSMD1 Synonymous SNV V36V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.903 265084 chr11 85438614 85438614 C T rs146611021 SYTL2 Nonsynonymous SNV G596E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.955 265085 chr6 132694132 132694132 C A MOXD1 Nonsynonymous SNV S139I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 265086 chr6 134583213 134583213 G A rs148941985 SGK1 Nonsynonymous SNV S48F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.93 265087 chr6 143092570 143092570 G A rs183518544 HIVEP2 Synonymous SNV S1102S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.178 265088 chr12 53089597 53089597 G C rs139809869 KRT77 Nonsynonymous SNV L292V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 265089 chr8 82443527 82443527 T C FABP12 Synonymous SNV T8T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.698 265090 chr13 32903588 32903590 GAA - rs80359588 BRCA2 E215del 0 0 0 1 0 0 0.003 0 0 0 0 0 265091 chr13 37422914 37422914 G A SMAD9 Nonsynonymous SNV P398S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 265092 chr6 152590337 152590337 G T rs201685248 SYNE1 Nonsynonymous SNV R6149S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.2 265093 chr8 97258590 97258590 C T MTERF3 Nonsynonymous SNV R257K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 265094 chr12 54686649 54686649 G A rs185181639 NFE2 Nonsynonymous SNV P211S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 265095 chr13 42875727 42875727 C T rs780056010 AKAP11 Nonsynonymous SNV H949Y 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 265096 chr13 45150235 45150235 G A rs770844157 TSC22D1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.482 265097 chr13 47466615 47466615 C T rs778682687 HTR2A Nonsynonymous SNV V91I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.28 265098 chr13 49865876 49865876 C T rs376714185 CDADC1 Nonsynonymous SNV R510C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 265099 chr11 61914249 61914249 - GAGCAGGAGCGGCGC rs765917665 INCENP R713_Q714insREQER 0 0.005 0 0 0 2 0 0 0 0 0 0 265100 chr9 109689711 109689711 T A ZNF462 Nonsynonymous SNV I1173K 0 0.005 0 0 0 2 0 0 0 0 0 0 20.6 265101 chr13 73636805 73636805 T C rs143687310 KLF5 Synonymous SNV P265P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.604 265102 chr13 76381713 76381713 A T rs78174524 LMO7 Nonsynonymous SNV I105L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 265103 chr9 112969734 112969734 C T rs551030478 C9orf152 Synonymous SNV L42L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.51 265104 chr12 70965692 70965692 A G PTPRB Synonymous SNV V698V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.501 265105 chr12 81064237 81064237 G T rs199746225 PTPRQ Nonsynonymous SNV A2018S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 265106 chr14 105169643 105169643 C T rs780247558 INF2 Synonymous SNV S173S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 11.88 265107 chr12 6438650 6438650 G T TNFRSF1A Nonsynonymous SNV A291E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 265108 chr13 98896745 98896745 A G FARP1 Nonsynonymous SNV M58V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.004 265109 chr14 20404058 20404058 C A OR4K1 Nonsynonymous SNV T78N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 265110 chr14 102552294 102552294 G A rs759018453 HSP90AA1 Synonymous SNV I110I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 265111 chr12 71158513 71158513 T G rs761663556 PTPRR Nonsynonymous SNV I23L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.16 265112 chr12 96371798 96371798 T C rs201071054 HAL Synonymous SNV A318A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.681 265113 chr14 20844322 20844322 C T rs555193519 TEP1 Nonsynonymous SNV V1956M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.5 265114 chr14 103999076 103999076 C T rs763916586 TRMT61A Synonymous SNV D163D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.088 265115 chr12 7528393 7528393 C T rs769586123 CD163L1 Synonymous SNV Q873Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.383 265116 chr6 27100247 27100247 T C rs760767378 HIST1H2BJ Nonsynonymous SNV I95V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 265117 chr12 121855708 121855708 G A RNF34 Synonymous SNV P17P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.093 265118 chr14 21541275 21541275 C T ARHGEF40 Synonymous SNV A25A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.35 265119 chr6 33659407 33659407 T C rs184920081 ITPR3 Nonsynonymous SNV M2414T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 265120 chr12 86199298 86199298 T C rs202079177 RASSF9 Nonsynonymous SNV T164A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.598 265121 chr14 20764600 20764600 T C rs183512507 TTC5 Synonymous SNV K215K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.476 265122 chr12 95603758 95603758 A G rs112081640 FGD6 Synonymous SNV S434S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 265123 chr14 24728326 24728326 C T rs41293794 TGM1 Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 265124 chr13 102568872 102568872 C A rs141304687 FGF14 Nonsynonymous SNV G42C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.28 265125 chr13 110438059 110438059 G A rs550048273 IRS2 Synonymous SNV A114A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.322 265126 chr6 47680199 47680199 G A rs755972498 ADGRF4 Nonsynonymous SNV R136H 0 0 0.007 0 0 0 0 2 0 0 0 0 8.541 265127 chr14 24761444 24761444 C - DHRS1 Stop gain L201* 0 0 0 1 0 0 0.003 0 0 0 0 0 265128 chr6 49518617 49518617 C T rs536392892 C6orf141 Nonsynonymous SNV R38C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.3 265129 chr13 23929778 23929778 C T rs144303334 SACS Nonsynonymous SNV G178R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26 265130 chr13 47355723 47355723 G A rs768011202 ESD Nonsynonymous SNV P137S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 265131 chr14 38170561 38170561 G A rs938208242 TTC6 Synonymous SNV P483P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.522 265132 chr6 6169635 6169635 T A MIR5683, MIR7853 0 0 0.003 0 0 0 0 1 0 0 0 0 7.621 265133 chr13 41768077 41768077 T A KBTBD7 Nonsynonymous SNV E106V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 265134 chr13 61985944 61985944 G A rs143598521 PCDH20 Nonsynonymous SNV P763L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 265135 chr13 38154046 38154046 T C rs745917674 POSTN Nonsynonymous SNV N538D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 265136 chr6 79577312 79577312 C T rs201167163 IRAK1BP1 Nonsynonymous SNV P7S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 265137 chr6 87725248 87725248 G A rs201640439 HTR1E Nonsynonymous SNV V66M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 265138 chr13 61109248 61109248 C T rs200126114 TDRD3 Nonsynonymous SNV R667W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 265139 chr14 73409719 73409719 G A rs34055762 DCAF4 Nonsynonymous SNV R50H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 265140 chr6 99729172 99729172 C A rs781276860 FAXC Nonsynonymous SNV R245S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 265141 chr13 76335066 76335066 A G LMO7 0.001 0 0 0 1 0 0 0 0 0 0 0 24 265142 chr9 215107 215107 C T DOCK8-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 12.56 265143 chr14 61186856 61186856 A G rs546993918 SIX4 Synonymous SNV L391L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.475 265144 chr7 100176317 100176317 C A rs762977065 LRCH4 Nonsynonymous SNV V231F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 265145 chr9 35095344 35095344 C T PIGO Synonymous SNV V73V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 265146 chr13 96375528 96375528 C T rs777878071 DNAJC3 Nonsynonymous SNV R76W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 265147 chr9 38067958 38067958 C T rs375405392 SHB Nonsynonymous SNV A229T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 265148 chr14 102805285 102805285 C T rs199952618 ZNF839 Nonsynonymous SNV R482C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 265149 chr14 21215977 21215977 T C EDDM3A Nonsynonymous SNV C80R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 265150 chr14 75747792 75747792 G C FOS Nonsynonymous SNV D270H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 265151 chr14 104208475 104208475 C T rs373068054 PPP1R13B Nonsynonymous SNV A492T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.35 265152 chr14 20404090 20404090 C T rs147602385 OR4K1 Nonsynonymous SNV R89C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.299 265153 chr14 81329142 81329142 G A rs200105295 CEP128 Nonsynonymous SNV R241C 0 0 0 1 0 0 0.003 0 0 0 0 0 29 265154 chr7 100799970 100799970 C T rs77387752 AP1S1 Synonymous SNV R33R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.62 265155 chr14 96937866 96937866 C T AK7 Nonsynonymous SNV S444L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 265156 chr14 23883309 23883309 C T rs368706722 MYH7 Synonymous SNV T1854T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.9 265157 chr7 117397991 117397991 G A rs376066347 CTTNBP2 Nonsynonymous SNV A1051V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.181 265158 chr7 121650406 121650406 G A rs375331244 PTPRZ1 Nonsynonymous SNV D436N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.717 265159 chr15 34042482 34042482 T G rs374767894 RYR3 Synonymous SNV V2798V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.463 265160 chr15 34146983 34146983 C T rs202096363 RYR3 Nonsynonymous SNV A4621V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.71 265161 chr14 23991304 23991304 C T rs575221770 ZFHX2 Nonsynonymous SNV G2529D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 265162 chr14 24774224 24774224 C T rs201242778 NOP9 Nonsynonymous SNV R612W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265163 chr14 51259462 51259462 G A NIN Nonsynonymous SNV P135S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.678 265164 chrX 135333478 135333478 G A rs961339100 MAP7D3 Nonsynonymous SNV P14S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.312 265165 chrX 135333480 135333480 C - MAP7D3 S13Tfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 265166 chrX 135333481 135333481 T A MAP7D3 Nonsynonymous SNV S13C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.89 265167 chrX 135333483 135333483 C A MAP7D3 Nonsynonymous SNV G12V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 265168 chrX 135333486 135333488 CCA - MAP7D3 G12del 0 0.003 0 0 0 1 0 0 0 0 0 0 265169 chr7 140159674 140159674 G A rs147474750 MKRN1 Nonsynonymous SNV S126L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.99 265170 chr15 39881189 39881189 G A rs138498839 THBS1 Nonsynonymous SNV G559S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 265171 chr14 60591697 60591697 C G rs202185823 PCNX4 Nonsynonymous SNV D702E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 265172 chr14 36104764 36104764 A G rs202127547 RALGAPA1 Nonsynonymous SNV M1859T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 265173 chr7 142760255 142760255 G A rs546862261 OR6W1P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.471 265174 chr7 143095810 143095810 T C EPHA1 Nonsynonymous SNV N407S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 265175 chr14 50101646 50101646 G C DNAAF2 Synonymous SNV P74P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.073 265176 chr7 149477406 149477406 G T rs778686671 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 6.943 265177 chr15 42235311 42235313 GAT - rs776025771 EHD4 I155del 0 0 0 1 0 0 0.003 0 0 0 0 0 265178 chr14 68229432 68229432 C T ZFYVE26 Nonsynonymous SNV R2039K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 265179 chr7 150417539 150417539 C T rs150494282 GIMAP1 Synonymous SNV I149I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.56 265180 chr14 57741210 57741210 G A rs758904733 AP5M1 Nonsynonymous SNV C108Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25 265181 chr15 45401134 45401134 A G rs752020770 DUOX2 Synonymous SNV P417P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.175 265182 chr15 57999082 57999082 G C rs150413697 POLR2M Nonsynonymous SNV E14D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 265183 chr15 50884246 50884246 A T TRPM7 Nonsynonymous SNV S1396T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.79 265184 chr7 158380315 158380315 - GCA rs539614459 PTPRN2 L15_P16insL 0.001 0 0.003 0 1 0 0 1 0 0 0 0 265185 chr13 110839625 110839625 G A rs145172612 COL4A1 Nonsynonymous SNV P530S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 265186 chr7 1784985 1784985 C G rs774207674 ELFN1 Synonymous SNV T251T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 265187 chr14 68274333 68274333 C T rs780808580 ZFYVE26 Nonsynonymous SNV R223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 265188 chr14 104182217 104182217 G C ZFYVE21 Nonsynonymous SNV K13N 0 0 0 2 0 0 0.005 0 0 0 0 0 26.7 265189 chr15 74325673 74325673 G A rs375629289 PML Synonymous SNV P477P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.725 265190 chr7 26578080 26578080 C T rs973358084 KIAA0087, LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 265191 chr14 91360808 91360808 A G RPS6KA5 Synonymous SNV A312A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 265192 chr7 2954932 2954932 C T CARD11 Synonymous SNV P926P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 265193 chr15 65863919 65863919 G A rs762902857 HACD3 Nonsynonymous SNV M269I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.86 265194 chr15 66625140 66625140 T A rs149109779 DIS3L Nonsynonymous SNV D790E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.8 265195 chr14 105932905 105932905 C T rs375441325 MTA1 Synonymous SNV N589N 0 0 0 2 0 0 0.005 0 0 0 0 0 16.8 265196 chr15 68620521 68620521 G A rs374681501 ITGA11 Nonsynonymous SNV R661C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 265197 chr7 34125461 34125461 A G rs537581896 BMPER Nonsynonymous SNV N501S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 265198 chr15 74328098 74328098 G A rs150969738 PML Nonsynonymous SNV V718M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.407 265199 chr15 74836315 74836315 - GC rs540147284 ARID3B Frameshift insertion Q14Hfs*23 0 0 0 1 0 0 0.003 0 0 0 0 0 265200 chr15 74836316 74836316 - G rs529059345 ARID3B Frameshift insertion Q14Afs*70 0 0 0 1 0 0 0.003 0 0 0 0 0 265201 chr15 75183742 75183742 G A rs200452019 MPI Nonsynonymous SNV R6Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24 265202 chr15 77473960 77473960 C A rs190396975 PEAK1 Synonymous SNV G103G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 265203 chr15 27193164 27193164 A G GABRA5 Synonymous SNV E391E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.07 265204 chr14 93118879 93118879 G A rs142230660 RIN3 Synonymous SNV P420P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.993 265205 chr7 45123068 45123068 G A rs370728489 NACAD Nonsynonymous SNV T904M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 265206 chr14 96937909 96937909 A G rs149831663 AK7 Synonymous SNV P458P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.523 265207 chr15 35830576 35830576 G A rs749935491 DPH6 Nonsynonymous SNV R71C 0.002 0 0 0 2 0 0 0 0 0 0 0 27 265208 chr15 89415268 89415268 C T rs372066173 ACAN Synonymous SNV N2342N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.06 265209 chr14 31598157 31598157 C T rs768912046 HECTD1 Nonsynonymous SNV G1474R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 19.38 265210 chr14 35245155 35245155 G A rs116760279 BAZ1A Nonsynonymous SNV R903C 0 0 0 2 0 0 0.005 0 0 0 0 0 13.98 265211 chr14 102453836 102453836 G A DYNC1H1 Nonsynonymous SNV R862H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 265212 chr14 37736195 37736195 G A rs374222610 MIPOL1 Synonymous SNV T24T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.41 265213 chr7 64388123 64388123 T G ZNF273 Stop gain Y139X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 265214 chr7 64438906 64438906 A G ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV L348P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 265215 chr15 89860001 89860001 C T rs750792237 POLG Nonsynonymous SNV R1234Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 21.5 265216 chr14 47770632 47770632 T A MDGA2 Synonymous SNV T65T 0 0 0 2 0 0 0.005 0 0 0 0 0 6.534 265217 chr16 11114051 11114051 G C CLEC16A Nonsynonymous SNV E417D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 265218 chr10 134942400 134942400 G T ADGRA1 Synonymous SNV A259A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.098 265219 chr7 75615709 75615709 T G rs370865328 POR Synonymous SNV A651A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.859 265220 chr16 12009299 12009299 C T rs373939888 GSPT1 Synonymous SNV P93P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 265221 chr15 43579755 43579755 C T rs138232522 TGM7 Nonsynonymous SNV R224K 0.003 0 0 0 3 0 0 0 0 0 0 0 33 265222 chr7 7712942 7712974 AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC - UMAD1 0 0 0.003 0 0 0 0 1 0 0 0 0 265223 chr7 8790661 8790661 C T rs556234370 NXPH1 Synonymous SNV N26N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.01 265224 chr16 1034733 1034733 A C SOX8 Nonsynonymous SNV T230P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 265225 chr16 11154830 11154830 G A rs199810490 CLEC16A Synonymous SNV P671P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.06 265226 chr15 43621878 43621878 G A rs778009739 LCMT2 Synonymous SNV D270D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.452 265227 chr7 97766675 97766675 G A LMTK2 Nonsynonymous SNV C51Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 265228 chr7 99719973 99719977 AGGCA - rs766862842 CNPY4 G71Efs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 265229 chr15 49833916 49833916 T C FAM227B Nonsynonymous SNV K245E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 265230 chr8 10920337 10920337 G A rs748191176 LOC101929269 0 0 0.003 0 0 0 0 1 0 0 0 0 1.568 265231 chr14 24775710 24775710 A G CIDEB Nonsynonymous SNV L69P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 265232 chr15 68118739 68118739 G T SKOR1 Synonymous SNV S191S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.32 265233 chr14 35230999 35230999 C T BAZ1A Nonsynonymous SNV E1371K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 265234 chr15 65957044 65957044 C T rs781679455 DENND4A Nonsynonymous SNV M1748I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 265235 chr14 38261468 38261468 G C TTC6 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 265236 chr15 74883993 74883993 G A rs139972092 ARID3B Nonsynonymous SNV A420T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 265237 chr15 69559118 69559118 A G rs566848099 GLCE X278W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 265238 chr8 142221794 142221794 C A rs142660892 SLC45A4 Nonsynonymous SNV R715L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.55 265239 chr16 50325704 50325704 C T rs141967597 ADCY7 Nonsynonymous SNV R145W 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 265240 chr16 53967952 53967952 A G rs141327394 FTO Nonsynonymous SNV N406S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 1.352 265241 chr16 56873442 56873442 C T rs371055702 NUP93 Nonsynonymous SNV R593C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 265242 chr16 4310097 4310097 G A rs201856455 TFAP4 Synonymous SNV I272I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 265243 chr10 75566137 75566137 G A rs774109686 NDST2 Synonymous SNV S448S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.42 265244 chr15 90192514 90192514 G A rs745680789 KIF7 Nonsynonymous SNV T205M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 265245 chr10 81058892 81058892 G A rs199797525 ZMIZ1 Synonymous SNV A584A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.6 265246 chr15 91184414 91184414 C T rs200743244 CRTC3 Nonsynonymous SNV P545L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 265247 chr16 55616999 55616999 A G rs368731755 LPCAT2 Nonsynonymous SNV K542E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 265248 chr15 91461497 91461497 C G rs373417566 MAN2A2 Nonsynonymous SNV A1023G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.804 265249 chr10 93668335 93668335 T C rs974380997 FGFBP3 Nonsynonymous SNV Q131R 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.119 265250 chr16 1034858 1034858 C T rs138803573 SOX8 Synonymous SNV S271S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 12.7 265251 chr8 22452048 22452048 C T rs73672793 PDLIM2 Synonymous SNV D329D 0.003 0 0.007 0 3 0 0 2 0 0 0 0 5.04 265252 chr16 11260274 11260274 C T rs76325160 CLEC16A Nonsynonymous SNV H891Y 0.003 0 0 0 4 0 0 0 0 0 0 0 24.4 265253 chr16 11349196 11349196 - CCGGGA rs587778690 SOCS1 P46_A47insVP 0.003 0 0 1 4 0 0.003 0 0 0 0 0 265254 chr16 67685831 67685831 C T rs759780746 CARMIL2 Nonsynonymous SNV R866W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 265255 chr16 16208823 16208823 T C ABCC1 Nonsynonymous SNV F1094L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 265256 chr16 23366810 23366810 G A rs369198235 SCNN1B Nonsynonymous SNV R259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 265257 chr16 747179 747179 G A rs546035990 FBXL16 Nonsynonymous SNV P76L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.092 265258 chr16 20380985 20380985 G A rs148290115 PDILT Synonymous SNV D315D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.673 265259 chr16 2070066 2070066 T C rs573754213 NPW Nonsynonymous SNV L55P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 265260 chr16 23702723 23702725 CTT - ERN2 K748del 0.001 0 0 0 1 0 0 0 0 0 0 0 265261 chr16 24902301 24902301 A G SLC5A11 Nonsynonymous SNV H189R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 265262 chr11 103006594 103006594 A G DYNC2H1 Nonsynonymous SNV R831G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 265263 chr16 23364355 23364355 A C SCNN1B Nonsynonymous SNV K182T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 265264 chr8 95871808 95871808 A G rs768771479 INTS8 Nonsynonymous SNV Y675C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 265265 chr11 108055981 108055981 A G rs368052686 NPAT Nonsynonymous SNV I295T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 265266 chr9 104499722 104499722 G A GRIN3A Synonymous SNV F180F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.82 265267 chr16 31092217 31092217 G C rs771666522 ZNF646 Nonsynonymous SNV Q1524H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 265268 chr16 4016655 4016655 G A ADCY9 Synonymous SNV F1061F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.639 265269 chr16 88501594 88501594 G A rs775513309 ZNF469 Synonymous SNV Q2572Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.384 265270 chr9 117104367 117104367 C T rs769223679 AKNA Nonsynonymous SNV A1147T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 265271 chr17 16843002 16843002 C T rs776292713 TNFRSF13B Synonymous SNV T247T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 265272 chr17 17118566 17118566 C A rs1050188504 FLCN Nonsynonymous SNV E455D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.76 265273 chr9 117838363 117838363 A G rs750335477 TNC Synonymous SNV S966S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 265274 chr17 11687744 11687744 C T DNAH9 Nonsynonymous SNV P2650L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.15 265275 chr17 12799828 12799828 C T rs202018989 ARHGAP44 Synonymous SNV S66S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.75 265276 chr15 64067170 64067170 C G rs764763896 HERC1 Nonsynonymous SNV G218A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 265277 chr16 70190425 70190425 T C rs769541777 PDPR Synonymous SNV N661N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.606 265278 chr16 66646537 66646537 C - CMTM3 *183delinsEGLAGALAT* 0.001 0 0 0 1 0 0 0 0 0 0 0 265279 chr16 66975034 66975034 C T CES2 Nonsynonymous SNV A275V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 265280 chr9 129595327 129595327 G A rs779334745 ZBTB43 Nonsynonymous SNV S180N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.14 265281 chr17 17068822 17068822 G T rs545327405 MPRIP Nonsynonymous SNV G1338V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.671 265282 chr16 67859941 67859941 G A rs200572059 TSNAXIP1 Nonsynonymous SNV R23H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 265283 chr16 67876824 67876841 CAGCAGCAGCAGCAGCAG - THAP11 Q127_Q132del 0.001 0 0 0 1 0 0 0 0 0 0 0 265284 chr16 72831853 72831853 G A rs768983543 ZFHX3 Synonymous SNV A662A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.49 265285 chr17 26732374 26732374 C A rs369959215 SLC46A1 Nonsynonymous SNV R114L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 265286 chr9 131588396 131588396 G A rs370144668 SPOUT1 Nonsynonymous SNV R182C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 265287 chr17 19645939 19645939 G A rs200801296 ALDH3A1 Synonymous SNV N133N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 265288 chr16 71683450 71683450 G A rs113722020 PHLPP2 Synonymous SNV G1038G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.418 265289 chr9 132576341 132576343 CTC - rs80358233 TOR1A E303del 0 0 0.003 0 0 0 0 1 0 0 0 0 265290 chr11 134073605 134073605 C G rs146266771 NCAPD3 Nonsynonymous SNV C471S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.5 265291 chr17 27963161 27963161 C T rs762841103 SSH2 Nonsynonymous SNV R669Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 265292 chr16 74729226 74729226 C T rs779830958 MLKL Nonsynonymous SNV D144N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 265293 chr9 133957466 133957466 C T rs780247167 LAMC3 Synonymous SNV A1316A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 265294 chr9 134003803 134003803 C T rs58363837 NUP214 Nonsynonymous SNV A109V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.17 265295 chr16 77369756 77369756 G A rs769577910 ADAMTS18 Nonsynonymous SNV R414W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 265296 chr17 2202653 2202653 G C SMG6 Nonsynonymous SNV P465R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 265297 chr16 20844427 20844427 G A REXO5 Synonymous SNV K455K 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 4.27 265298 chr9 139700656 139700656 G A rs201907900 CCDC183 Nonsynonymous SNV V359M 0 0 0.007 0 0 0 0 2 0 0 0 0 3.624 265299 chr15 90216446 90216446 G A rs150004289 PLIN1 Nonsynonymous SNV T82I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign 27.3 265300 chr17 3445902 3445902 A G rs761783585 TRPV3 Nonsynonymous SNV I186T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.709 265301 chr11 30033939 30033939 T C rs201817148 KCNA4 Nonsynonymous SNV H96R 0 0.008 0 0 0 3 0 0 0 0 0 0 0.001 265302 chr11 31827995 31827995 G A PAX6 Nonsynonymous SNV A22V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.94 265303 chr16 88502265 88502265 C G rs886052412 ZNF469 Nonsynonymous SNV P2796R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.125 265304 chr17 10297738 10297738 C T rs199865613 MYH8 Nonsynonymous SNV R1665Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 265305 chr9 17502628 17502628 C A rs563559086 CNTLN Nonsynonymous SNV T1399K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 265306 chr16 88788395 88788395 C T rs772479622 PIEZO1 Nonsynonymous SNV V1679M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.293 265307 chr16 88932913 88932913 G A rs1014374349 PABPN1L Synonymous SNV N34N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.153 265308 chr9 35102093 35102093 G A rs563889169 STOML2 Synonymous SNV L48L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.722 265309 chr17 39296541 39296541 G T KRTAP4-6 Nonsynonymous SNV P67T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 265310 chr9 37784757 37784757 G A rs751095415 EXOSC3 Synonymous SNV S95S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 265311 chr9 6007715 6007715 C T rs780197951 KIAA2026 Nonsynonymous SNV G25R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 265312 chr17 21201778 21201778 G A rs368729510 MAP2K3 Nonsynonymous SNV A6T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.98 265313 chr9 80856695 80856695 C T rs775163853 CEP78 Nonsynonymous SNV H195Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 265314 chr17 18047095 18047095 T A MYO15A Nonsynonymous SNV L2011M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 265315 chr9 95237094 95237094 A G ASPN Nonsynonymous SNV M29T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 265316 chr17 33328338 33328338 C T LIG3 Synonymous SNV D798D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 265317 chrX 118377149 118377149 G C rs202113314 PGRMC1 Nonsynonymous SNV G122R 0 0 0.007 0 0 0 0 2 0 0 1 0 28.9 265318 chr17 48615484 48615484 C T rs769639334 EPN3 Nonsynonymous SNV R203W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 265319 chr17 32906205 32906205 C A rs779099850 C17orf102 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 265320 chr17 4925475 4925475 C T rs148934699 KIF1C Nonsynonymous SNV P700L 0.001 0.008 0 1 1 3 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 265321 chrX 153154020 153154020 C T rs375313452 LCA10 0 0 0.01 0 0 0 0 3 0 0 1 0 0.083 265322 chr17 37566454 37566454 C T rs145032668 MED1 Nonsynonymous SNV G674S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 265323 chr16 83520096 83520096 C T rs559812646 CDH13 Nonsynonymous SNV R227W 0 0 0 2 0 0 0.005 0 0 0 0 0 35 265324 chr17 38855879 38855879 T C rs773689152 KRT24 Nonsynonymous SNV E393G 0.001 0 0 0 1 0 0 0 0 0 0 0 30 265325 chr17 67097018 67097018 T C rs112641777 ABCA6 Nonsynonymous SNV M978V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.004 265326 chr17 67178847 67178847 - TAC ABCA10 Y866_N867insS 0 0 0 1 0 0 0.003 0 0 0 0 0 265327 chr17 67178930 67178930 G A rs113050212 ABCA10 Synonymous SNV L839L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.975 265328 chr10 103369228 103369228 G A rs138981039 DPCD Synonymous SNV X215X 0 0 0.003 0 0 0 0 1 0 0 0 0 8.982 265329 chr16 67197373 67197373 G C rs201429195 FBXL8 Nonsynonymous SNV E259Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 26.7 265330 chr16 67876826 67876826 - CAGCAGCAGCAGCAGCAGCAGCAA rs752283836 THAP11 Q132_S133insQQQQQQQQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 265331 chr10 104679140 104679140 C T rs140279763 CNNM2 Synonymous SNV Y301Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.68 265332 chr10 105172894 105172894 G A rs148850392 PDCD11 Nonsynonymous SNV V334I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 265333 chr17 43111711 43111711 C T rs145138207 DCAKD Nonsynonymous SNV G54S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265334 chr11 57268701 57268701 C T rs142199497 SLC43A1 Nonsynonymous SNV V86M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 265335 chr17 40262912 40262912 C T rs782627793 DHX58 Synonymous SNV V130V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 265336 chr17 40353762 40353762 T C rs568497349 STAT5B Synonymous SNV Q786Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.667 265337 chr17 72863094 72863094 G C rs764729385 FDXR Nonsynonymous SNV L71V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 265338 chr17 40997012 40997012 C T rs148771457 AOC2 Synonymous SNV I123I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.075 265339 chr10 116100383 116100383 G A rs140378605 AFAP1L2 Nonsynonymous SNV R42W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 265340 chr17 42084992 42084992 C T rs150004962 NAGS Synonymous SNV P434P 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 17.65 265341 chr10 123600613 123600613 C T rs538914300 ATE1 Nonsynonymous SNV V285I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 265342 chr17 44060841 44060841 T G rs141120474 MAPT Nonsynonymous SNV V224G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 265343 chr17 1546876 1546876 G C SCARF1 Synonymous SNV P217P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.041 265344 chr10 129201373 129201373 G A rs61758438 DOCK1 Nonsynonymous SNV E1328K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 265345 chr17 7674655 7674655 T G rs141976760 DNAH2 Nonsynonymous SNV F1457C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.8 265346 chr11 62434375 62434399 GGACCCTGATTCAGTTCTCAGATGA - rs755907317 CSKMT I195Mfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 265347 chr17 51900842 51900842 C T rs796994270 KIF2B Nonsynonymous SNV L150F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 265348 chr17 66596681 66596681 C T rs766536786 FAM20A Nonsynonymous SNV G43R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 265349 chr17 56833683 56833683 C T PPM1E Nonsynonymous SNV P109S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 265350 chr17 56599278 56599278 T C rs141477093 SEPTIN4 Nonsynonymous SNV T264A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 265351 chr10 5557715 5557715 C A rs1035128536 CALML3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.443 265352 chr11 73714874 73714874 C T rs746995996 UCP3 Synonymous SNV K274K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.22 265353 chr10 61829575 61829575 G C rs374931259 ANK3 Synonymous SNV T3688T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.071 265354 chr11 75279993 75279993 A G rs773393677 SERPINH1 Nonsynonymous SNV N244S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.71 265355 chr17 78061872 78061872 G A rs4889815 CCDC40 Synonymous SNV A894A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.81 265356 chr11 76371706 76371706 C T rs761862218 LRRC32 Nonsynonymous SNV G201S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 265357 chr17 7491817 7491817 T C rs145995572 SOX15 Nonsynonymous SNV Q194R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 265358 chr10 75528879 75528879 G A rs748292596 SEC24C Nonsynonymous SNV R798Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 265359 chr18 67562961 67562961 C T rs748557039 CD226 Nonsynonymous SNV V80M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 265360 chr17 76420203 76420203 G A rs374179775 DNAH17 Synonymous SNV I4391I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 265361 chr10 81319184 81319184 G A rs201847938 SFTPA2 Nonsynonymous SNV A29V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.242 265362 chr17 8383577 8383577 A G MYH10 Synonymous SNV N1785N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.992 265363 chr10 90591609 90591609 C T ANKRD22 Nonsynonymous SNV V66I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 265364 chr10 95279527 95279527 G A rs578017409 CEP55 Nonsynonymous SNV R385Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 265365 chr17 78811769 78811769 C T rs370002882 RPTOR Nonsynonymous SNV T395M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 265366 chr19 10260235 10260235 G A DNMT1 Nonsynonymous SNV P811L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 265367 chr10 99361646 99361646 G A rs755562733 HOGA1 Nonsynonymous SNV V82I 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 23 265368 chr19 10668268 10668268 C T rs764100625 KRI1 Nonsynonymous SNV R526H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 265369 chr19 12996825 12996825 C T KLF1 Stop gain W73X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 265370 chr19 13410043 13410043 G T rs760816963 CACNA1A Nonsynonymous SNV R803S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 265371 chr17 80545106 80545106 G A rs144638934 FOXK2 Nonsynonymous SNV V582M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 265372 chr12 11214135 11214135 C T TAS2R46 Synonymous SNV E253E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.954 265373 chr17 9615412 9615412 T G rs201010220 USP43 Synonymous SNV S761S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.157 265374 chr18 10807198 10807198 G A rs942548867 PIEZO2 Nonsynonymous SNV S331L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.6 265375 chr11 10327884 10327884 C G rs2228573 ADM Nonsynonymous SNV P85R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.736 265376 chr12 120128253 120128253 G A CIT Synonymous SNV P1921P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.179 265377 chr19 11473242 11473242 G A rs370352995 PLPPR2 Synonymous SNV S214S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.59 265378 chr19 1221293 1221293 C T rs9282859 STK11 Synonymous SNV Y272Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 14.59 265379 chr11 113146061 113146061 G A rs781998057 NCAM1 Synonymous SNV T833T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 265380 chr18 32455280 32455280 G T rs9959365 DTNA Synonymous SNV A270A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 7.486 265381 chr18 28935080 28935080 T A rs758018823 DSG1 Nonsynonymous SNV I974K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.98 265382 chr19 1235071 1235071 C T rs13346715 CBARP Synonymous SNV T128T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.87 265383 chr18 28919897 28919897 C T DSG1 Synonymous SNV P532P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 265384 chr18 72775455 72775455 C T ZNF407 Synonymous SNV P1926P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.482 265385 chr19 1805939 1805939 C A rs1036693770 ATP8B3 Nonsynonymous SNV A204S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 265386 chr11 118399318 118399318 A T rs782030511 TTC36 Nonsynonymous SNV D40V 0 0 0.007 0 0 0 0 2 0 0 0 0 21 265387 chr11 118917357 118917362 GGCCGG - rs782050011 HYOU1 R917_P918del 0 0 0.003 0 0 0 0 1 0 0 0 0 265388 chr19 18972855 18972855 C T UPF1 Nonsynonymous SNV R843C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265389 chr11 120979970 120979970 G A rs770214966 TECTA Synonymous SNV T83T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.145 265390 chr11 121323164 121323164 T G rs746225292 SORL1 Nonsynonymous SNV L42V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.936 265391 chr18 46889532 46889532 A G rs778649631 DYM Synonymous SNV L165L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 265392 chr19 10489039 10489039 A G rs144960992 TYK2 Nonsynonymous SNV V15A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 265393 chr17 48913351 48913351 C T rs149885164 WFIKKN2 Nonsynonymous SNV A18V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.75 265394 chr19 12780992 12780992 A T WDR83 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 265395 chr19 17638105 17638105 G A NIBAN3 Nonsynonymous SNV V17M 0 0 0 1 0 0 0.003 0 0 0 0 0 9.971 265396 chr19 35800784 35800784 T G rs746129230 MAG Synonymous SNV P388P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.401 265397 chr18 72997898 72997898 G T rs776308822 TSHZ1 Nonsynonymous SNV C179F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.946 265398 chr17 57968357 57968357 T C rs757085234 TUBD1 Nonsynonymous SNV I3V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.52 265399 chr18 8824775 8824775 G A rs372260226 MTCL1 Synonymous SNV P1089P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.263 265400 chr18 8798131 8798131 C T rs115906443 MTCL1 Nonsynonymous SNV L760F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 265401 chr17 61886937 61886937 T C DDX42 Synonymous SNV H390H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.106 265402 chr19 2226817 2226817 G A rs749350627 DOT1L Nonsynonymous SNV V1433M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 265403 chr19 39914856 39914856 C G rs951595521 PLEKHG2 Nonsynonymous SNV S969C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 265404 chr11 3249677 3249677 C T rs761077384 MRGPRE Nonsynonymous SNV S118N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 265405 chr11 33572702 33572702 C T rs758561785 KIAA1549L Synonymous SNV N1206N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 265406 chr11 418446 418446 C G rs911381188 ANO9 Synonymous SNV G614G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.778 265407 chr11 48238491 48238491 G A rs776256251 OR4B1 Nonsynonymous SNV V44I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.226 265408 chr17 43219976 43219976 G C rs567924082 ACBD4 X269S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.341 265409 chr19 23328334 23328338 ATAAG - rs765829830 ZNF730 I165Tfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 265410 chr19 3150139 3150139 G A rs139115108 GNA15 Nonsynonymous SNV S114N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.428 265411 chr19 35251060 35251060 G A rs146259784 ZNF599 Nonsynonymous SNV R216W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 265412 chr19 50105156 50105156 A C PRR12 Nonsynonymous SNV E1585A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.29 265413 chr19 3548176 3548176 G A rs757805490 MFSD12 Nonsynonymous SNV T191I 0.001 0 0 0 1 0 0 0 0 0 0 0 11 265414 chr19 36210949 36210949 A G rs753767829 KMT2B Nonsynonymous SNV K234E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 265415 chr19 5119769 5119769 C T KDM4B Synonymous SNV S407S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.55 265416 chr19 33703525 33703525 T C rs767067459 SLC7A10 Nonsynonymous SNV S177G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 265417 chr19 35500042 35500042 C T rs758428360 GRAMD1A Nonsynonymous SNV R10W 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 265418 chr19 51827075 51827075 C T rs368185748 IGLON5 Synonymous SNV D106D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 265419 chr19 3730617 3730617 C A rs138301512 TJP3 Nonsynonymous SNV L176M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 265420 chr11 58317528 58317528 C T rs149186197 LPXN Nonsynonymous SNV R173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 265421 chr19 37676779 37676779 C T rs749617315 ZNF585B Nonsynonymous SNV E554K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 265422 chr19 3789302 3789302 C T rs73531488 MATK Nonsynonymous SNV R15Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 265423 chr19 49442931 49442931 T A rs774544584 DHDH Nonsynonymous SNV S198T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.091 265424 chr19 11833099 11833099 T C rs200061671 ZNF823 Nonsynonymous SNV Q235R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.66 265425 chr19 38610427 38610427 A G SIPA1L3 Nonsynonymous SNV T925A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.716 265426 chr19 38964323 38964323 G A rs868508791 RYR1 Nonsynonymous SNV G1358R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.28 265427 chr19 40554705 40554705 T C rs112293642 ZNF780B 0.003 0 0 0 3 0 0 0 0 0 0 0 20.4 265428 chr18 40853898 40853898 C T rs376423172 SYT4 Nonsynonymous SNV E166K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 265429 chr11 61646061 61646061 C T rs771731285 FADS3 Nonsynonymous SNV A224T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 265430 chr19 40366257 40366257 C T rs4029191 FCGBP Synonymous SNV Q4659Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.203 265431 chr11 61730319 61730319 A G rs767436221 BEST1 Nonsynonymous SNV T478A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 265432 chr11 61897860 61897860 G A INCENP Synonymous SNV P287P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 265433 chr19 41066102 41066102 C T rs746689481 SPTBN4 Nonsynonymous SNV T579M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 265434 chr11 62457781 62457781 C T rs755714656 HNRNPUL2-BSCL2 0 0 0.003 0 0 0 0 1 0 0 0 0 4.873 265435 chr19 41949920 41949920 C T rs549466784 ERICH4 Nonsynonymous SNV R62C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 265436 chr19 4258411 4258411 A G rs142542192 YJU2 Nonsynonymous SNV Q193R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 265437 chr19 44117539 44117539 G A SRRM5 Synonymous SNV A422A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.905 265438 chr11 65306629 65306629 G A LTBP3 Synonymous SNV G1114G 0 0 0.007 0 0 0 0 2 0 0 0 0 12.85 265439 chr11 65547955 65547955 C G rs998022847 AP5B1 Synonymous SNV L36L 0 0 0.007 0 0 0 0 2 0 0 0 0 13.26 265440 chr19 4496377 4496377 C A HDGFL2 Synonymous SNV R435R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 265441 chr19 45412204 45412204 C T rs72654468 APOE Synonymous SNV A217A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.26 265442 chr19 45317540 45317540 C A BCAM Nonsynonymous SNV L306I 0.001 0 0 0 1 0 0 0 0 0 0 0 12 265443 chr19 58095759 58095759 T G rs761443617 ZIK1 0.002 0 0 0 2 0 0 0 0 0 0 0 16.47 265444 chr11 74994390 74994390 G T rs369966242 ARRB1 Synonymous SNV R99R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 265445 chr19 4839317 4839317 G A rs552438963 PLIN3 Nonsynonymous SNV R397C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 265446 chr19 4859984 4859984 T C rs775016276 PLIN3 Nonsynonymous SNV D40G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.905 265447 chr11 77933155 77933155 C T GAB2 Nonsynonymous SNV A514T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 265448 chr11 77933156 77933156 C T GAB2 Synonymous SNV R513R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 265449 chr11 84865655 84865655 A G rs537814111 DLG2 Nonsynonymous SNV I113T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.841 265450 chr11 85425529 85425529 G T rs755350680 SYTL2 Nonsynonymous SNV P41H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 265451 chr19 50364574 50364574 C T rs142199280 PNKP Synonymous SNV L499L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.73 265452 chr19 50880867 50880867 C T rs41379547 NR1H2 Nonsynonymous SNV S2F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 265453 chr19 50029319 50029319 A G rs762854571 FCGRT Synonymous SNV P347P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 265454 chr19 50165280 50165280 T C rs769404615 IRF3 Nonsynonymous SNV S157G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.027 265455 chr19 761627 761627 C T rs148115443 MISP Synonymous SNV Y638Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 265456 chr11 89867964 89867964 G A rs139005910 NAALAD2 Nonsynonymous SNV C13Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 265457 chr11 92534305 92534305 C T rs771514446 FAT3 Nonsynonymous SNV T2709I 0 0 0.003 0 0 0 0 1 0 0 0 0 21 265458 chr11 93432029 93432029 A G CEP295 Synonymous SNV T1317T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 265459 chr19 50940735 50940735 C T rs201632456 MYBPC2 Nonsynonymous SNV R157C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 265460 chr19 51135719 51135719 C G SYT3 Synonymous SNV S166S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 265461 chr19 51857774 51857774 T G rs143144671 ETFB Nonsynonymous SNV E40A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.57 265462 chr11 95561038 95561038 G A rs1047306549 CEP57 Nonsynonymous SNV R299Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 265463 chr19 3751282 3751282 G A APBA3 Nonsynonymous SNV R521C 0 0 0 3 0 0 0.008 0 0 0 0 0 27.9 265464 chr19 52131141 52131141 G C SIGLEC5 Nonsynonymous SNV R315G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 265465 chr19 6502705 6502705 C G rs944771331 TUBB4A Synonymous SNV A6A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.139 265466 chr12 104309655 104309655 C T TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.95 265467 chr14 23588096 23588096 G A rs146580935 CEBPE Nonsynonymous SNV L69F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.26 265468 chr19 40540835 40540835 T C rs772270266 ZNF780B Nonsynonymous SNV K644R 0 0 0 2 0 0 0.005 0 0 0 0 0 18.74 265469 chr12 109746120 109746120 C A FOXN4 Stop gain E3X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 265470 chr12 109889513 109889513 C T KCTD10 Nonsynonymous SNV G278R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 265471 chr19 53409650 53409650 G C rs370907854 ZNF888 Nonsynonymous SNV A642G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.807 265472 chr19 9074372 9074372 C A rs370900815 MUC16 Nonsynonymous SNV Q4358H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.028 265473 chr14 24909458 24909458 C T rs35580864 SDR39U1 Nonsynonymous SNV R156H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 265474 chr12 117158247 117158247 C T rs146281512 C12orf49 Nonsynonymous SNV V62I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 265475 chr19 42584713 42584713 G A rs759252120 ZNF574 Nonsynonymous SNV R742Q 0 0 0 2 0 0 0.005 0 0 0 0 0 9.065 265476 chr12 119419765 119419765 C A rs373485495 SRRM4 Synonymous SNV P26P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 265477 chr12 12006434 12006434 C T rs368516584 ETV6 Synonymous SNV F134F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 265478 chr1 1007248 1007248 G A RNF223 Synonymous SNV P233P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.087 265479 chr12 120652771 120652771 G A rs780888877 PXN Nonsynonymous SNV P393S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 265480 chr12 123968774 123968774 G A rs183288011 RILPL1 Synonymous SNV I340I 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.64 265481 chr12 124817728 124817728 G A rs753999562 NCOR2 Nonsynonymous SNV R2225W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 265482 chr12 129190011 129190011 G A rs750924400 TMEM132C Nonsynonymous SNV R833H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 265483 chr12 129694252 129694252 C T rs202240571 TMEM132D-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 4.147 265484 chr12 130927184 130927184 C T rs551750640 RIMBP2 Nonsynonymous SNV R221K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 265485 chr19 5684075 5684075 C T HSD11B1L Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.631 265486 chr19 57335015 57335015 C T rs149822437 PEG3, ZIM2 Nonsynonymous SNV D143N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.6 265487 chr19 46025709 46025709 C T rs994355063 VASP Nonsynonymous SNV A197V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.17 265488 chr19 9057794 9057794 G A rs143428939 MUC16 Synonymous SNV T9884T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.876 265489 chr12 20893176 20893176 G A rs145739313 SLCO1C1 Nonsynonymous SNV G418D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 265490 chr19 57293393 57293394 AA - ZIM2 S192Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 265491 chr12 2958677 2958677 G A rs749453272 TEX52 Nonsynonymous SNV S213F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 265492 chr12 32030191 32030191 T C rs1797763 LINC02422 0 0 0.007 0 0 0 0 2 0 0 1 0 4.825 265493 chr19 7585335 7585358 GCTGCAGCTGCCGCGGCCGCTGCA - rs763184313 ZNF358 A409_A416del 0.002 0 0 0 2 0 0 0 0 0 0 0 265494 chr19 7592448 7592448 C A rs748095297 MCOLN1 Nonsynonymous SNV P205H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 265495 chr1 13933775 13933775 C T rs148537739 PDPN Nonsynonymous SNV R17C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 265496 chr19 814479 814479 G A rs761831519 PLPPR3 Synonymous SNV D290D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 265497 chr1 14107659 14107661 TGT - rs573722447 PRDM2 V925del 0 0 0 1 0 0 0.003 0 0 0 0 0 265498 chr1 153233621 153233621 G A LOR Nonsynonymous SNV G66R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 265499 chr1 144930772 144930772 T A rs782474959 PDE4DIP Nonsynonymous SNV I313F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.09 265500 chr19 843597 843597 G C rs145358114 PRTN3 Synonymous SNV V66V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.217 265501 chr19 8468307 8468307 C T rs758181301 RAB11B Synonymous SNV R174R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.536 265502 chr12 52284262 52284262 A G rs765885378 ANKRD33 Nonsynonymous SNV Y105C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.523 265503 chr19 9021081 9021081 G A rs1032628723 MUC16 Synonymous SNV N12414N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.678 265504 chr19 9021105 9021105 A T rs77455485 MUC16 Synonymous SNV G12406G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 265505 chr19 9021112 9021112 T G MUC16 Nonsynonymous SNV D12404A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.125 265506 chr19 9021128 9021128 G A rs369228039 MUC16 Synonymous SNV L12399L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.21 265507 chr1 154186377 154186377 C T rs752383833 C1orf43 Nonsynonymous SNV R77H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 265508 chr1 154517322 154517322 T C TDRD10 Synonymous SNV D283D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.224 265509 chr12 56755177 56755177 C T rs753758642 APOF Synonymous SNV P271P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 265510 chr19 53884898 53884898 G A rs61743769 ZNF525 Nonsynonymous SNV E356K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.019 265511 chr12 57112833 57112833 A G rs201610743 NACA Synonymous SNV P827P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.845 265512 chr12 57486720 57486720 G C NAB2 Nonsynonymous SNV G371A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.88 265513 chr1 109793998 109793998 G A rs760119454 CELSR2 Nonsynonymous SNV V433M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 265514 chr12 58204873 58204873 C T rs372949086 AVIL Nonsynonymous SNV V126M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 265515 chr12 60173383 60173383 T C SLC16A7 Nonsynonymous SNV S454P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 265516 chr12 63083514 63083514 T C rs201286163 PPM1H Nonsynonymous SNV I404V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 265517 chr1 100614294 100614294 A T TRMT13 Nonsynonymous SNV Y455F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 265518 chr12 66765600 66765600 C T rs375330927 GRIP1 Synonymous SNV P895P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.172 265519 chr1 10714562 10714562 G A rs370387026 CASZ1 Synonymous SNV D584D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 265520 chr1 100379160 100379160 G A rs112795811 AGL Nonsynonymous SNV E1343K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.8 265521 chr1 109273456 109273456 A T rs4970809 FNDC7 Synonymous SNV G595G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.219 265522 chr15 42377705 42377705 A C PLA2G4D Nonsynonymous SNV F138V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 265523 chr12 7053022 7053022 C G rs7965269 RNU7-1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.051 265524 chr19 55998218 55998218 C T rs754613229 NAT14 Synonymous SNV A172A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.65 265525 chr12 7287941 7287941 G A CLSTN3 Synonymous SNV R134R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.56 265526 chr15 43656116 43656116 G A rs143986040 ZSCAN29 Nonsynonymous SNV R563C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 265527 chr15 44087635 44087635 A C rs142695112 SERINC4 Nonsynonymous SNV F188V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.2 265528 chr1 111778712 111778712 T C rs374106752 CHI3L2 Synonymous SNV T214T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.2 265529 chr12 80998857 80998857 A C rs139474037 PTPRQ Nonsynonymous SNV E1371D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 265530 chr12 82147977 82147977 C T rs565852968 PPFIA2 Synonymous SNV T8T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 265531 chr19 57290751 57290751 A G rs372687078 ZIM2 Nonsynonymous SNV C246R 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.01 265532 chr1 12820715 12820715 A G rs139761829 C1orf158 Nonsynonymous SNV N101S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 265533 chr19 58790808 58790808 G A rs183858019 ZNF8-ERVK3-1 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.554 265534 chr1 17285196 17285196 G A rs753192597 CROCC Nonsynonymous SNV R1328Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 265535 chr1 17596818 17596818 G A rs148352617 PADI3 Nonsynonymous SNV R248H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.01 265536 chr1 179051339 179051339 G A rs577489710 TOR3A Nonsynonymous SNV A26T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.52 265537 chr1 179100604 179100604 C T rs55655202 ABL2 Nonsynonymous SNV R57H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 35 265538 chr1 147091938 147091938 C T rs181882813 BCL9 Synonymous SNV N659N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.783 265539 chr1 152082683 152082683 G C rs375540297 TCHH Nonsynonymous SNV L1004V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.453 265540 chr1 186099099 186099099 C T rs144437187 HMCN1 Synonymous SNV A4302A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.52 265541 chr13 29608080 29608080 T C rs200475426 MTUS2 Nonsynonymous SNV V755A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 265542 chr13 32729705 32729705 G A rs116121141 FRY Synonymous SNV P519P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.08 265543 chr1 156849016 156849016 G A rs17838192 NTRK1 Synonymous SNV A630A 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.92 265544 chr13 52549245 52549245 A G ATP7B Synonymous SNV F37F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.984 265545 chr13 53036519 53036519 A G rs139910485 CKAP2 Synonymous SNV K375K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.136 265546 chr13 60498930 60498930 A G rs191267920 DIAPH3 Nonsynonymous SNV S454P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.93 265547 chr1 16274793 16274793 G A rs575679819 ZBTB17 Synonymous SNV N66N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 265548 chr13 73329302 73329302 C G BORA Nonsynonymous SNV T492R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 265549 chr13 73649901 73649901 G C rs151120175 KLF5 Synonymous SNV S326S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.324 265550 chr1 159898002 159898002 - C IGSF9 Frameshift insertion A1059Gfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 265551 chr1 20657421 20657421 C G rs12072406 VWA5B1 Nonsynonymous SNV S506C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 265552 chr1 20680744 20680744 G A rs115923738 VWA5B1 Synonymous SNV P1212P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 265553 chr1 213436148 213436148 C T RPS6KC1 Nonsynonymous SNV L562F 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265554 chr14 103059294 103059308 CCGCCTCCGCCGCCG - rs769670360 RCOR1 A30_A34del 0 0 0.003 0 0 0 0 1 0 0 0 0 265555 chr14 104206482 104206482 A G rs375262577 PPP1R13B Synonymous SNV D757D 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 1.657 265556 chr16 12061476 12061476 T A rs756217244 TNFRSF17 Synonymous SNV T109T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.672 265557 chr16 1251880 1251880 G A CACNA1H Nonsynonymous SNV R477H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 265558 chr19 58983053 58983053 G A rs1048477 ZNF324 Synonymous SNV V398V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.087 265559 chr1 172425575 172425575 C T C1orf105 Synonymous SNV D63D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.674 265560 chr19 6712390 6712390 G T C3 Nonsynonymous SNV P383T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 265561 chr16 15811051 15811051 G A rs142654744 MYH11 Nonsynonymous SNV A1817V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 265562 chr1 179013110 179013110 G A rs142026121 FAM20B Nonsynonymous SNV R43Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 265563 chr1 22915487 22915487 G A EPHA8 Nonsynonymous SNV R368H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 265564 chr1 228547973 228547973 C T rs757953963 OBSCN Synonymous SNV N6460N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.519 265565 chr1 198666000 198666000 C T rs149798940 PTPRC Nonsynonymous SNV P87L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 0.004 265566 chr16 2312423 2312423 T C rs370675982 RNPS1 Nonsynonymous SNV M155V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 265567 chr1 23279683 23279683 C T LACTBL1 Synonymous SNV A531A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 265568 chr14 34247709 34247709 G A rs184170938 NPAS3 Nonsynonymous SNV V332I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 265569 chr1 236180494 236180494 G A rs748265133 NID1 Synonymous SNV C736C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.92 265570 chr14 53348185 53348185 T C rs934885893 FERMT2 Nonsynonymous SNV S177G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 265571 chr1 23966983 23966983 G A rs10917405 MDS2 Nonsynonymous SNV G123R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 265572 chr1 2428347 2428347 C T rs367683060 PLCH2 Nonsynonymous SNV R645C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.1 265573 chr1 204091510 204091510 C T rs745706655 SOX13 Nonsynonymous SNV P336L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 265574 chr1 245582967 245582967 C T KIF26B Synonymous SNV C362C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.357 265575 chr1 205042839 205042839 C T rs756612071 CNTN2 Synonymous SNV T1023T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.88 265576 chr14 70989856 70989856 C T rs774295974 ADAM20 Nonsynonymous SNV R540H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 265577 chr1 111743039 111743039 G A DENND2D Nonsynonymous SNV R15C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.45 265578 chr1 24859644 24859644 C T rs1040287237 RCAN3 Synonymous SNV I137I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 265579 chr1 220826650 220826650 G A rs746233549 MARK1 Synonymous SNV T626T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 265580 chr1 222717066 222717066 A C rs150501722 HHIPL2 Nonsynonymous SNV L263V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 265581 chr16 61687746 61687746 A G rs545108725 CDH8 Synonymous SNV D722D 0 0.005 0 0 0 2 0 0 0 0 0 0 0.106 265582 chr16 65005928 65005928 C A rs148024624 CDH11 Nonsynonymous SNV R351M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 265583 chr1 224585971 224585974 CAAA - rs775339652 MIR4742 0.001 0.003 0 0 1 1 0 0 0 0 0 0 265584 chr1 32256325 32256325 C T rs376216363 SPOCD1 Nonsynonymous SNV R657H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.175 265585 chr1 32936639 32936639 - GCGGCGGCA ZBTB8B A153_H154insAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 265586 chr1 145438891 145438891 G A rs782138298 TXNIP Nonsynonymous SNV R30Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 265587 chr16 70305775 70305775 G A rs764675357 AARS1 Nonsynonymous SNV R194W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 265588 chr1 35862168 35862168 A G ZMYM4 Nonsynonymous SNV Q652R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.553 265589 chr1 36039582 36039582 C T TFAP2E Nonsynonymous SNV P28S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 265590 chr15 31197522 31197530 ATTCTCTAA - rs774654411 FAN1 D219_K222delinsE 0 0 0.003 0 0 0 0 1 0 0 0 0 265591 chr16 72831220 72831220 C T ZFHX3 Synonymous SNV L873L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.062 265592 chr15 40675176 40675176 C A rs199715714 KNSTRN Nonsynonymous SNV T47K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.899 265593 chr15 41105992 41105992 C T rs72735636 ZFYVE19 Nonsynonymous SNV R330C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.12 265594 chr16 839647 839647 G A rs761748577 CHTF18 Nonsynonymous SNV V180M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 265595 chr1 2436435 2436435 G A PLCH2 Nonsynonymous SNV R1345H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 265596 chr15 50288937 50288937 G A rs116334504 ATP8B4 Nonsynonymous SNV R176C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 265597 chr1 26608935 26608935 C T rs200674226 UBXN11 Nonsynonymous SNV R353Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.79 265598 chr15 65147133 65147133 G A rs774029981 PLEKHO2 Nonsynonymous SNV C9Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 265599 chr1 3428570 3428570 G A rs201492163 MEGF6 Nonsynonymous SNV R326W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 265600 chr15 69548393 69548393 A G rs61746980 GLCE Nonsynonymous SNV K83R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.66 265601 chr1 27440629 27440629 C T rs750030133 SLC9A1 Synonymous SNV P167P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.02 265602 chr1 27877429 27877429 C T rs750185125 AHDC1 Nonsynonymous SNV G400R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 265603 chr15 75221546 75221546 T C rs372249618 COX5A Nonsynonymous SNV H43R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.345 265604 chr15 75641390 75641390 A T NEIL1 Synonymous SNV S134S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 265605 chr17 16455670 16455670 T C rs777822571 ZNF287 Nonsynonymous SNV I548V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.46 265606 chr1 21014394 21014394 C T rs781103880 KIF17 Nonsynonymous SNV M475I 0 0 0 2 0 0 0.005 0 0 0 0 0 19.71 265607 chr17 16843819 16843819 G A rs200037919 TNFRSF13B Nonsynonymous SNV P151L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.541 265608 chr1 78392561 78392561 A T rs374691663 NEXN Nonsynonymous SNV E219V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.4 265609 chr1 41092303 41092303 G A rs779286156 RIMS3 Synonymous SNV T271T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 265610 chr1 85548081 85548081 T C rs200014540 WDR63 Synonymous SNV Y128Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.015 265611 chr15 81636347 81636347 C T rs758681614 TMC3 Nonsynonymous SNV V520M 0 0 0.007 0 0 0 0 2 0 0 0 0 29.8 265612 chr15 83673653 83673653 A C rs74028206 C15orf40 Synonymous SNV V146V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.632 265613 chr15 83680313 83680313 T G rs114478510 C15orf40 Nonsynonymous SNV N16T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.17 265614 chr15 85632626 85632626 A T rs756522197 PDE8A Synonymous SNV T159T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.067 265615 chr1 31896649 31896649 T A rs138847753 SERINC2 Nonsynonymous SNV V54E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 265616 chr15 89182658 89182658 C T rs761082582 ISG20 Nonsynonymous SNV R21W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 265617 chr1 33235758 33235758 T A KIAA1522 Synonymous SNV P267P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.703 265618 chr1 43738700 43738700 G A TMEM125 Nonsynonymous SNV V103M 0.001 0 0 0 1 0 0 0 0 0 0 0 27 265619 chr1 94496665 94496665 C T rs139109485 ABCA4 Synonymous SNV P1380P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 11.6 265620 chr1 82431756 82431756 G A ADGRL2 Nonsynonymous SNV V661I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 265621 chr15 90628064 90628064 T C IDH2 Nonsynonymous SNV I289V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.57 265622 chr15 90774348 90774348 C T rs34645714 CIB1 Synonymous SNV E188E 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 11.38 265623 chr15 90802274 90802274 A G rs138966176 TTLL13P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.975 265624 chr15 90903608 90903608 T C rs61738864 ZNF774 Nonsynonymous SNV I182T 0 0 0.007 2 0 0 0.005 2 0 0 0 0 0.011 265625 chr1 982770 982770 C T rs773249335 AGRN Nonsynonymous SNV T1151M 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 265626 chr1 48701505 48701505 C T rs142604560 SLC5A9 Nonsynonymous SNV R416C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 265627 chr1 201687701 201687701 C T rs778013705 NAV1 Synonymous SNV H348H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 265628 chr16 1718081 1718081 C A CRAMP1 Nonsynonymous SNV A1074D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 265629 chr1 46743852 46743852 G C RAD54L Synonymous SNV G534G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.289 265630 chr1 62267297 62267297 A G rs375861494 PATJ Nonsynonymous SNV T469A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 265631 chr1 47276598 47276598 C T CYP4B1 Nonsynonymous SNV A100V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.137 265632 chr20 25656582 25656582 C T rs150890810 ZNF337 Nonsynonymous SNV V448M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.7 265633 chr16 20826286 20826286 G A rs143977054 REXO5 Nonsynonymous SNV V97I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 265634 chr20 2776024 2776024 C G CPXM1 Nonsynonymous SNV E513Q 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 265635 chr1 74667031 74667031 C T FPGT, FPGT-TNNI3K Stop gain Q107X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 265636 chr16 2815809 2815809 C T rs868027466 SRRM2 Synonymous SNV G1760G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 265637 chr20 36030866 36030866 G T rs754204413 SRC Nonsynonymous SNV R382L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 265638 chr16 4749076 4749076 G A rs145984825 ANKS3 Synonymous SNV S289S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 265639 chr16 4944581 4944581 C G rs144887163 PPL Nonsynonymous SNV K427N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.3 265640 chr20 46281260 46281260 G C rs970904335 NCOA3 Nonsynonymous SNV A1352P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.892 265641 chr20 46313252 46313252 T C SULF2 Nonsynonymous SNV I271V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 265642 chr16 541181 541181 C T rs116384594 RAB11FIP3 Nonsynonymous SNV A438V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 265643 chr16 56678025 56678025 G A rs66564161 MT1DP 0 0 0.003 0 0 0 0 1 0 0 0 0 3.358 265644 chr16 58030787 58030787 C T rs757978297 ZNF319 Synonymous SNV T461T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.528 265645 chr16 67683456 67683456 G A CARMIL2 Nonsynonymous SNV G618D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 265646 chr16 710636 710636 G A rs1014997269 WDR90 Nonsynonymous SNV G1105S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.184 265647 chr20 60885102 60885102 G A rs144342844 LAMA5 Synonymous SNV F3590F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Likely benign 10.64 265648 chr20 61916244 61916244 C T rs143810518 ARFGAP1 Synonymous SNV N135N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.63 265649 chr20 62329672 62329672 C T rs137950052 TNFRSF6B Nonsynonymous SNV A220V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.389 265650 chr1 240969605 240969605 G T rs758189548 RGS7 Nonsynonymous SNV D315E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 265651 chr20 745945 745945 G A rs751119191 SLC52A3 Synonymous SNV A158A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.426 265652 chr16 86371466 86371466 G A rs74713186 LINC00917 0 0 0.01 0 0 0 0 3 0 0 0 0 2.985 265653 chr20 7990942 7990942 G A rs141058825 TMX4 Nonsynonymous SNV S66F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 265654 chr20 33876333 33876333 C T rs200148854 FAM83C Nonsynonymous SNV R246H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265655 chr17 72363734 72363734 A T GPR142 Synonymous SNV A30A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.013 265656 chr17 72691263 72691263 G A rs34303409 CD300LF Nonsynonymous SNV T297M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 265657 chr17 73016710 73016710 C A rs201288213 MRPL58 Nonsynonymous SNV P165Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 265658 chr16 89712990 89712990 C T rs771909969 CHMP1A Nonsynonymous SNV R165H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 265659 chr17 14110268 14110268 C T rs148783821 COX10 Nonsynonymous SNV A357V 0 0 0.007 0 0 0 0 2 0 0 0 0 34 265660 chr17 17740068 17740068 C G SREBF1 Nonsynonymous SNV D22H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 265661 chr17 17769693 17769693 C A TOM1L2 Nonsynonymous SNV G186V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 265662 chr20 56098239 56098239 G A rs201396833 CTCFL Synonymous SNV D213D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.76 265663 chr17 18775951 18775951 A G rs753708739 PRPSAP2 Synonymous SNV Q76Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.619 265664 chr20 57429381 57429381 T G GNAS Nonsynonymous SNV L292V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 265665 chr20 62700811 62700811 C T TCEA2 Nonsynonymous SNV R143C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 265666 chr1 36932400 36932400 G A rs764345289 CSF3R Nonsynonymous SNV T690M 0 0.003 0 0 0 1 0 0 0 0 0 0 6.026 265667 chr20 56140633 56140633 G A rs148684857 PCK1 Nonsynonymous SNV A548T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.84 265668 chr21 30343014 30343014 T A LTN1 Synonymous SNV S345S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.626 265669 chr22 17669265 17669265 C T rs74317375 ADA2 Nonsynonymous SNV V108I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 0.957 265670 chr17 26864439 26864439 C T rs199499942 FOXN1 Synonymous SNV P644P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 265671 chr22 18291694 18291694 G A rs375203075 MICAL3 Nonsynonymous SNV R1856W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 265672 chr17 27209357 27209357 G A rs769216547 FLOT2 Nonsynonymous SNV R193W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 265673 chr20 61940837 61940837 C T rs372211237 COL20A1 Nonsynonymous SNV R365W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 265674 chr21 45550551 45550551 A G rs771138950 LOC102724159, PWP2 Synonymous SNV L886L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 265675 chr22 18301569 18301569 C T rs73876506 MICAL3 Synonymous SNV P1286P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.439 265676 chr20 58557976 58557976 A G rs201613457 CDH26 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 265677 chr20 62326487 62326487 C A rs6062495 RTEL1 Synonymous SNV R915R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.2 265678 chr21 37510229 37510229 T C rs555970835 CBR3 Synonymous SNV H132H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.7 265679 chr20 62505106 62505106 C T rs753959135 TPD52L2 Nonsynonymous SNV S59F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 265680 chr21 37518564 37518564 G T CBR3 Synonymous SNV V196V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.14 265681 chr21 37617888 37617888 G T rs145394127 DOP1B Nonsynonymous SNV A1204S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.23 265682 chr17 80543978 80543978 C T rs144577090 FOXK2 Nonsynonymous SNV T493M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 265683 chr17 34072450 34072450 G A rs587679546 GAS2L2 Nonsynonymous SNV P689L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 265684 chr17 3427551 3427551 T A TRPV3 Nonsynonymous SNV M562L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 265685 chr22 23922229 23922229 A G IGLL1 Nonsynonymous SNV L50P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 265686 chr17 3435966 3435966 C T rs141575082 TRPV3 Synonymous SNV K350K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 11.6 265687 chr17 3491622 3491622 C T rs201718475 TRPV1 Nonsynonymous SNV E362K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 265688 chr21 27852668 27852668 A G rs140020973 CYYR1 Nonsynonymous SNV M86T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26 265689 chr22 29139875 29139875 G A rs200812334 HSCB Nonsynonymous SNV R81H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.4 265690 chr17 3917756 3917756 C A ZZEF1 Nonsynonymous SNV Q2733H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 265691 chr21 40569155 40569157 TCT - rs764102474 BRWD1 E1946del 0.001 0 0 0 1 0 0 0 0 0 0 0 265692 chr22 24237108 24237108 G A rs201099096 MIF Synonymous SNV E86E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.9 265693 chr22 36708196 36708196 G A rs7285745 MYH9 Synonymous SNV F542F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.79 265694 chr22 37603142 37603142 C T rs201174534 SSTR3 Nonsynonymous SNV R234H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 265695 chr21 43767742 43767742 C T rs764106088 TFF2 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 265696 chr22 40060901 40060901 G C CACNA1I Nonsynonymous SNV R1240P 0.002 0 0 0 2 0 0 0 0 0 0 0 32 265697 chr22 41256738 41256738 C T rs1030025027 XPNPEP3 Nonsynonymous SNV P41S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.922 265698 chr22 19263219 19263219 C T CLTCL1 Nonsynonymous SNV M59I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.406 265699 chr21 45833838 45833838 C T rs192919942 TRPM2 Synonymous SNV P1009P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 265700 chr17 42083190 42083190 A G rs139907815 NAGS Synonymous SNV V204V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 8.113 265701 chr22 44323025 44323025 G A rs151264513 PNPLA3 Nonsynonymous SNV R133Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.055 265702 chr20 45130945 45130946 CT - rs868213441 ZNF334 K309Afs*31 0.001 0 0 2 1 0 0.005 0 0 0 0 0 265703 chr20 46264855 46264855 C T rs368779000 NCOA3 Synonymous SNV C575C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 9.128 265704 chr22 19965094 19965094 C T rs769768355 ARVCF Nonsynonymous SNV V572M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265705 chr22 19966536 19966536 C T rs368885256 ARVCF Synonymous SNV T488T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 265706 chr22 30771357 30771357 G A rs772507414 KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 3.674 265707 chr22 22890881 22890881 G A rs779054676 PRAME Nonsynonymous SNV L364F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 265708 chr20 51870276 51870276 G A rs200568023 TSHZ2 Synonymous SNV S90S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 2.995 265709 chr22 38212254 38212254 G A rs139037895 GCAT Nonsynonymous SNV S371N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.07 265710 chr22 24180628 24180628 G T DERL3 Nonsynonymous SNV R80S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 265711 chr22 24911204 24911204 C T rs149294607 UPB1 Synonymous SNV P219P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 265712 chr19 11916914 11916914 A G rs141870350 ZNF491 Nonsynonymous SNV Y49C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.487 265713 chr19 13215881 13215881 G T rs369390870 TRMT1 Synonymous SNV R587R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.85 265714 chr20 25062394 25062394 G A rs6037016 VSX1 Synonymous SNV G113G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.78 265715 chr17 72862341 72862341 G A rs138454707 FDXR Nonsynonymous SNV A100V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.94 265716 chr22 40161544 40161544 A G rs1025105506 ENTHD1 Synonymous SNV D301D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 265717 chr2 111406882 111406882 C T rs182377124 BUB1 Nonsynonymous SNV S739N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.692 265718 chr17 7320524 7320524 G A rs758458536 NLGN2 Synonymous SNV P638P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.153 265719 chr20 31589084 31589084 G C rs199513550 SUN5 Nonsynonymous SNV S71C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 265720 chr17 7369653 7369653 G A rs749598814 ZBTB4 Synonymous SNV D156D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.717 265721 chr20 35060814 35060814 C T rs145036695 DLGAP4 Nonsynonymous SNV R232C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 265722 chr17 75488782 75488782 T C rs376712636 SEPTIN9 Nonsynonymous SNV V375A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 265723 chr22 44893302 44893302 G T rs78519610 RTL6 Synonymous SNV T45T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.085 265724 chr2 160619410 160619410 G C rs771891435 MARCHF7 Nonsynonymous SNV S582T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 265725 chr22 46693332 46693332 C G GTSE1 Nonsynonymous SNV A12G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 265726 chr17 7671562 7671562 G A rs767469312 DNAH2 Synonymous SNV L1306L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.16 265727 chr19 1816082 1816082 C T REXO1 Nonsynonymous SNV A1217T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.9 265728 chr22 50943504 50943504 G A rs753728744 LMF2 Synonymous SNV A387A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.317 265729 chr17 79060326 79060326 G A rs772086481 BAIAP2 Synonymous SNV R145R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 265730 chr17 79206249 79206249 G C rs768957322 TEPSIN Nonsynonymous SNV P199R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.949 265731 chr22 17589639 17589639 C T rs148319877 IL17RA Synonymous SNV D476D 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.543 265732 chr2 118572404 118572404 C T rs746874006 DDX18 Synonymous SNV N17N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.93 265733 chr2 18765895 18765895 G C rs146399000 NT5C1B, NT5C1B-RDH14 Nonsynonymous SNV S205C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 265734 chr2 113404945 113404945 A G rs746938555 SLC20A1 Nonsynonymous SNV I127V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 265735 chr22 21799811 21799811 T C rs368038633 HIC2 Synonymous SNV D209D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 265736 chr22 21989274 21989274 C T rs146506084 CCDC116 Nonsynonymous SNV R308C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.5 265737 chr2 113513854 113513854 G A CKAP2L Nonsynonymous SNV T200I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 265738 chr2 192279380 192279380 C T rs144285175 MYO1B Synonymous SNV A990A 0.003 0 0 0 4 0 0 0 0 0 0 0 17.36 265739 chr2 136680456 136680456 C T rs758984824 DARS Nonsynonymous SNV V137M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 265740 chr2 143742705 143742705 A G rs369069974 KYNU Nonsynonymous SNV Y261C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 265741 chr2 152319899 152319899 C T rs749140716 RIF1 Nonsynonymous SNV R1289W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 265742 chr2 152320145 152320145 A C rs769296874 RIF1 Nonsynonymous SNV N1371H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 265743 chr2 131883461 131883461 C T rs771487921 PLEKHB2 Nonsynonymous SNV T10M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.84 265744 chr2 170099560 170099560 T C rs750430784 LRP2 Synonymous SNV Q1191Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.332 265745 chr2 219499283 219499283 G A rs543955232 PLCD4 Nonsynonymous SNV R609H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 265746 chr2 219619088 219619088 C T TTLL4 Synonymous SNV D1192D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.02 265747 chr2 177202237 177202237 G C MTX2 Nonsynonymous SNV A190P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265748 chr2 179403402 179403402 G A rs758109676 TTN Nonsynonymous SNV R23987C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 265749 chr21 43533714 43533714 C T UMODL1 Synonymous SNV S768S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 265750 chr18 72186299 72186299 C T rs150725923 CNDP2 Synonymous SNV D358D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 265751 chr2 172848237 172848237 C T rs775715888 HAT1 Nonsynonymous SNV R411C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265752 chr18 9887086 9887086 C A rs772762791 TXNDC2 Nonsynonymous SNV P204T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 265753 chr19 10561575 10561575 C T rs202117812 PDE4A Synonymous SNV T247T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.283 265754 chr2 202489013 202489013 G A TMEM237 Nonsynonymous SNV P398S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 26.8 265755 chr2 206617609 206617609 G A rs183448761 NRP2 Nonsynonymous SNV E652K 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 265756 chr19 45768123 45768123 G A rs772689017 MARK4 Synonymous SNV S149S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 265757 chr19 14582467 14582467 C T rs55901966 PKN1 Synonymous SNV D900D 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.1 265758 chr19 15302387 15302387 A C rs143117018 NOTCH3 Nonsynonymous SNV L295R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 265759 chr2 20494197 20494197 A T rs762571094 PUM2 Synonymous SNV A308A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.012 265760 chr22 26164480 26164480 T C rs760762845 MYO18B Synonymous SNV P199P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 265761 chr2 207175334 207175334 C A rs190081515 ZDBF2 Nonsynonymous SNV P2028T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 265762 chr2 25194758 25194758 G T DNAJC27 Nonsynonymous SNV P6T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.71 265763 chr2 219878062 219878062 C T rs755517872 CFAP65 Synonymous SNV P1292P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 265764 chr22 30198035 30198035 G A rs150662727 ASCC2 Synonymous SNV L328L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 265765 chr2 201460069 201460069 A G AOX1 Nonsynonymous SNV N60D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 265766 chr2 21235429 21235429 G C rs1801697 APOB Nonsynonymous SNV F1437L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.42 265767 chr22 31345821 31345821 A C rs140792905 MORC2 Synonymous SNV A78A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.607 265768 chr21 44279813 44279813 C T rs141906425 WDR4 Nonsynonymous SNV V196M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 265769 chr22 37268457 37268457 A G rs774706034 NCF4 Nonsynonymous SNV D206G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 265770 chr19 19035447 19035447 G A rs778338254 DDX49 Nonsynonymous SNV A290T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 265771 chr19 51363261 51363261 G T KLK3 Nonsynonymous SNV V179L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.287 265772 chr19 21606093 21606093 G T rs145782852 ZNF493 Nonsynonymous SNV R83L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 265773 chr19 23542934 23542934 T C rs369731971 ZNF91 Synonymous SNV Q917Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 265774 chr2 228882718 228882718 T C SPHKAP Nonsynonymous SNV N951S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 265775 chr19 3009591 3009591 G A rs372007569 TLE2 Synonymous SNV L252L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.61 265776 chr19 34302326 34302326 G A rs761940449 KCTD15 Nonsynonymous SNV A188T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 265777 chr19 36018109 36018109 T C rs74726174 SBSN Nonsynonymous SNV S359G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 265778 chr19 36159029 36159029 C T rs1036985288 UPK1A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.96 265779 chr2 23865630 23865630 C G KLHL29 Nonsynonymous SNV P284A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 265780 chr2 84771440 84771440 T C rs770893497 DNAH6 Nonsynonymous SNV I249T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.978 265781 chr2 32475388 32475388 G A rs756754650 NLRC4 Synonymous SNV H515H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.112 265782 chr3 10191559 10191559 C T rs779157605 VHL Synonymous SNV L143L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.594 265783 chr2 74154055 74154055 C G rs1054034625 DGUOK Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.47 265784 chr2 113942571 113942571 G A rs45626940 PSD4 Nonsynonymous SNV C365Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.503 265785 chr2 113994191 113994191 G A rs112872760 PAX8 Synonymous SNV Y295Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.227 265786 chr19 41848126 41848126 C T rs201327622 TGFB1 Nonsynonymous SNV A221T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 265787 chr19 4208772 4208772 G A ANKRD24 Nonsynonymous SNV D282N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 265788 chr3 11300960 11300960 C T rs199977410 HRH1 Synonymous SNV V79V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 265789 chr2 128263051 128263051 G C IWS1 Nonsynonymous SNV A143G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.123 265790 chr19 43979596 43979596 A G rs780542120 PHLDB3 Nonsynonymous SNV I630T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 265791 chr19 44008096 44008098 CTT - rs756497243 PHLDB3 E58del 0 0 0.003 0 0 0 0 1 0 0 0 0 265792 chr2 32735647 32735647 C T BIRC6 Nonsynonymous SNV T3431M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265793 chr3 121187191 121187191 G - POLQ P2269Lfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 265794 chr2 39042700 39042700 T C DHX57 Nonsynonymous SNV Q1088R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 265795 chr2 40655940 40655940 T C rs202132710 SLC8A1 Nonsynonymous SNV H494R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 265796 chr3 112991482 112991482 G A rs771932279 BOC Nonsynonymous SNV R298H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 265797 chr2 54482353 54482353 C A TSPYL6 Synonymous SNV V312V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 265798 chr19 46248544 46248544 A G rs967264791 BHMG1 Nonsynonymous SNV I91V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 265799 chr2 61021224 61021224 G T rs147765225 PAPOLG Synonymous SNV P629P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 265800 chr3 120357315 120357315 A G rs747288180 HGD Synonymous SNV P331P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.98 265801 chr2 65540895 65540895 C T rs753455015 SPRED2 Nonsynonymous SNV V330M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 265802 chr19 4852272 4852272 C T rs369609254 PLIN3 Synonymous SNV S130S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 265803 chr19 49253610 49253610 A G FUT1 Nonsynonymous SNV F310S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 265804 chr3 13655548 13655548 A G rs201093973 FBLN2 Nonsynonymous SNV N538S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 265805 chr2 48026936 48026936 C G rs587781616 MSH6 Nonsynonymous SNV T475S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.1 265806 chr19 49852072 49852072 A T TEAD2 Nonsynonymous SNV L211Q 0 0 0.007 0 0 0 0 2 0 0 0 0 12.15 265807 chr19 50140378 50140378 C A RRAS Nonsynonymous SNV V55L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 265808 chr19 50172409 50172409 G A BCL2L12 Nonsynonymous SNV E240K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.762 265809 chr19 50491689 50491689 C A rs373667645 VRK3 Nonsynonymous SNV G336V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 265810 chr2 97492611 97492611 C A rs778514856 CNNM3 Nonsynonymous SNV P423T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 265811 chr19 51671120 51671120 C T rs560858380 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.624 265812 chr3 102175127 102175127 C A ZPLD1 Nonsynonymous SNV P156T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 265813 chr3 142116235 142116235 C T XRN1 Nonsynonymous SNV V759M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 265814 chr2 71797768 71797768 C T rs372880553 DYSF Nonsynonymous SNV P1010L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 265815 chr3 142261508 142261508 A G rs748892082 ATR Nonsynonymous SNV M1086T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 265816 chr2 73799870 73799870 A G rs377601961 ALMS1 Synonymous SNV E3621E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.422 265817 chr3 114069800 114069800 G A rs374510842 ZBTB20 Synonymous SNV F375F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.4 265818 chr3 184062408 184062408 G A rs766200478 FAM131A Nonsynonymous SNV D166N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 265819 chr3 184587315 184587315 G A rs752593630 VPS8 Nonsynonymous SNV R535Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 265820 chr3 100949946 100949946 C T IMPG2 Nonsynonymous SNV E1093K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 265821 chr1 1394594 1394594 G A rs199523351 ATAD3C Synonymous SNV T265T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.418 265822 chr19 56029447 56029447 C A SSC5D Synonymous SNV T1268T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 265823 chr19 56052238 56052238 G A rs758417683 SBK3 Nonsynonymous SNV R352W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 265824 chr3 21706380 21706380 C G rs774044765 ZNF385D Nonsynonymous SNV A55P 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 265825 chr19 57065345 57065345 A T rs145231131 ZFP28 Synonymous SNV S397S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 265826 chr3 132407563 132407563 T C rs774509320 NPHP3 Nonsynonymous SNV Y1019C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 265827 chr19 57089424 57089424 G A rs760147015 ZNF470 Nonsynonymous SNV G543S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 265828 chr3 3137068 3137068 T G rs769664587 IL5RA Nonsynonymous SNV Q257P 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 265829 chr2 190719577 190719577 A G PMS1 Nonsynonymous SNV K351E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 265830 chr3 121340712 121340712 C A rs746363538 FBXO40 Nonsynonymous SNV L146I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 265831 chr19 58084506 58084506 A G ZNF416 Nonsynonymous SNV S184P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 265832 chr3 122259675 122259675 T C rs767050928 PARP9 Nonsynonymous SNV K505R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.731 265833 chr3 152554259 152554259 T C rs78522095 P2RY1 Synonymous SNV L230L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.822 265834 chr3 39323177 39323177 G C rs147724093 CX3CR1 Nonsynonymous SNV P4A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.006 265835 chr3 160137235 160137235 G C rs76165638 SMC4 Nonsynonymous SNV K587N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 265836 chr3 161221262 161221262 T A rs113998122 OTOL1 Synonymous SNV T322T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.394 265837 chr3 164783164 164783164 G C rs79468450 SI Nonsynonymous SNV T231S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 265838 chr19 6467643 6467643 C T rs201488135 DENND1C Nonsynonymous SNV A716T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 265839 chr19 6696668 6696668 C T rs149209011 C3 Synonymous SNV P933P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.826 265840 chr3 169693434 169693434 C G rs9290379 SEC62 Synonymous SNV A25A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.72 265841 chr19 6986307 6986307 C G rs74595696 ADGRE4P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.161 265842 chr3 4355077 4355077 A G rs372873713 SETMAR Nonsynonymous SNV I218V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 265843 chr3 151095935 151095935 G A rs149086875 MED12L Synonymous SNV K1449K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 265844 chr3 44685162 44685162 C T rs201970271 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV A634V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 265845 chr19 8161438 8161438 C T rs145090095 FBN3 Nonsynonymous SNV R1810Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.1 265846 chr3 156266724 156266724 C T rs554757087 SSR3 Nonsynonymous SNV R110K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 265847 chr3 46014667 46014667 A G rs142081868 FYCO1 Nonsynonymous SNV V151A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.4 265848 chr3 159713244 159713244 G A rs56043315 IL12A Synonymous SNV P206P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.211 265849 chr3 161221109 161221109 T C rs773797036 OTOL1 Synonymous SNV S271S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.063 265850 chr3 164757686 164757686 C G SI Nonsynonymous SNV V745L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.1 265851 chr3 170198366 170198366 C T rs147231592 SLC7A14 Nonsynonymous SNV V569M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.9 265852 chr3 47890145 47890145 C T DHX30 Synonymous SNV T869T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 265853 chr3 4355455 4355455 T C rs766839621 SETMAR Nonsynonymous SNV F344L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.41 265854 chr3 172491763 172491763 C A rs760385662 ECT2 Nonsynonymous SNV T440N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 265855 chr3 48717581 48717581 G A rs573286934 NCKIPSD Nonsynonymous SNV R392W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 265856 chr3 46008319 46008319 G T rs766825040 FYCO1 Nonsynonymous SNV A836D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 265857 chr1 173010634 173010634 A C rs920152562 TNFSF18 Nonsynonymous SNV V158G 0 0.005 0 0 0 2 0 0 0 1 0 0 25.7 265858 chr3 185191301 185191301 G A rs377523229 MAP3K13 Nonsynonymous SNV A521T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 265859 chr2 9642348 9642348 G A rs757833957 ADAM17 Synonymous SNV C534C 0 0 0 2 0 0 0.005 0 0 0 0 0 11.19 265860 chr19 9204490 9204490 G C OR1M1 Synonymous SNV T190T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.676 265861 chr3 153220243 153220243 A C rs200507002 C3orf79 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 265862 chr3 153839914 153839914 G A rs374318138 ARHGEF26 Nonsynonymous SNV G45R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 265863 chr3 51970516 51970516 G A rs747736507 RRP9 Synonymous SNV A191A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 265864 chr3 154139047 154139047 T G rs148319718 GPR149 Nonsynonymous SNV R468S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 265865 chr3 52510468 52510468 C T rs774937728 NISCH Synonymous SNV V257V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.3 265866 chr1 100154845 100154845 G A rs202123371 PALMD Synonymous SNV P343P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.942 265867 chr1 180217561 180217561 G A LHX4 Nonsynonymous SNV G73E 0 0.005 0 0 0 2 0 0 0 1 0 0 25.4 265868 chr3 159995412 159995412 C T rs150370681 IFT80 Nonsynonymous SNV R491Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 265869 chr1 1007403 1007403 C T RNF223 Nonsynonymous SNV G182S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 265870 chr3 57898312 57898312 G A rs139032332 SLMAP Nonsynonymous SNV R86Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 265871 chr2 33500117 33500117 A G rs941600177 LTBP1 Synonymous SNV P617P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 265872 chr3 195594855 195594855 A G rs769465011 TNK2 Nonsynonymous SNV S789P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 265873 chr3 72957682 72957682 A T rs375355056 GXYLT2 Nonsynonymous SNV D147V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 265874 chr3 39156169 39156169 G A rs377424404 TTC21A Nonsynonymous SNV V177I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 265875 chr4 103265766 103265766 G C SLC39A8 Synonymous SNV L18L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.63 265876 chr3 121351315 121351315 - GGCTCAGGCTCAGGCTCGGGCTCAGGCTCA HCLS1 E338_N339insPEPEPEPEPE 0.001 0 0 3 1 0 0.008 0 0 0 0 0 265877 chr2 54856852 54856852 T C rs780940173 SPTBN1 Nonsynonymous SNV C848R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 265878 chr3 123247241 123247241 C T rs202187144 HACD2 Nonsynonymous SNV V14I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.1 265879 chr1 14106635 14106635 C T rs750612605 PRDM2 Nonsynonymous SNV P581L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 265880 chr3 12611588 12611588 C T rs139549520 MKRN2 Synonymous SNV P15P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.45 265881 chr1 151260715 151260715 G A rs138210991 ZNF687 Nonsynonymous SNV A650T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 265882 chr4 123533896 123533896 - ACATCAGC IL21 Stop gain S153Cfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 265883 chr4 120983251 120983251 C A MAD2L1 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 265884 chr1 153995731 153995731 G A rs201060001 NUP210L Synonymous SNV L1389L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.5 265885 chr1 210014274 210014274 G A rs145078045 UTP25 Synonymous SNV L453L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 265886 chr3 47277043 47277043 G A rs777506297 KIF9 Nonsynonymous SNV S696F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 265887 chr1 154680534 154680534 G C rs753486219 KCNN3 Nonsynonymous SNV T392S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 265888 chr1 155020586 155020586 A G rs754956137 DCST1 Synonymous SNV A578A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.841 265889 chr4 146076577 146076577 C T rs769825185 OTUD4 Nonsynonymous SNV G222R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 265890 chr4 140651585 140651590 CTGCTG - rs750412143 MAML3 Q771_Q772del 0.001 0 0 0 1 0 0 0 0 0 0 0 265891 chr4 140651588 140651590 CTG - MAML3 Q772del 0.001 0 0 0 1 0 0 0 0 0 0 0 265892 chr3 55043445 55043445 G T CACNA2D3 Nonsynonymous SNV W950C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 265893 chr1 216251673 216251673 C T rs541275063 USH2A Nonsynonymous SNV R1777Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.09 265894 chr1 216420460 216420460 C A rs80338902 USH2A Nonsynonymous SNV C759F 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 33 265895 chr1 216420480 216420480 A G rs111033281 USH2A Synonymous SNV H752H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.741 265896 chr3 58196590 58196590 A G rs375690971 DNASE1L3 Nonsynonymous SNV I15T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.386 265897 chr3 51979608 51979608 A G rs753149799 PARP3 Nonsynonymous SNV Q327R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.245 265898 chr1 15768943 15768943 - G CTRC Frameshift insertion N78Efs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 265899 chr1 158913618 158913618 G A rs370942662 PYHIN1 Synonymous SNV Q347Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.131 265900 chr3 54912959 54912959 G A rs781472103 CACNA2D3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 265901 chr4 164394338 164394338 G A rs531922468 TKTL2 Synonymous SNV F183F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.045 265902 chr3 58855204 58855204 C T rs149329107 C3orf67 Nonsynonymous SNV V234I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 265903 chr3 66023892 66023892 G A rs139524567 MAGI1 Nonsynonymous SNV T31M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 265904 chr3 167345034 167345034 G A rs772707839 WDR49 Nonsynonymous SNV T71M 0 0 0 3 0 0 0.008 0 0 0 0 0 0.183 265905 chr4 17710556 17710556 C T FAM184B Nonsynonymous SNV D285N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 265906 chr1 228487177 228487178 AT - rs748780851 OBSCN C4479Wfs*38 0.002 0.005 0 0 2 2 0 0 0 0 0 0 265907 chr3 52282380 52282380 T C PPM1M Synonymous SNV G63G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.029 265908 chr1 230795321 230795321 G A rs761579955 COG2 Nonsynonymous SNV E62K 0 0.003 0 2 0 1 0.005 0 0 0 0 0 29 265909 chr4 186544514 186544514 C T rs760601599 SORBS2 Nonsynonymous SNV R590K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.47 265910 chr1 17396608 17396608 C T rs145297606 PADI2 Nonsynonymous SNV R580H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 265911 chr3 9911884 9911884 G A CIDEC Synonymous SNV L36L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.248 265912 chr3 63830697 63830698 AG - C3orf49 0.001 0 0 0 1 0 0 0 0 0 0 0 265913 chr4 1348987 1348987 A G rs200309770 UVSSA Nonsynonymous SNV K377R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.2 265914 chr4 3425336 3425336 G A RGS12 Nonsynonymous SNV G420S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 265915 chr1 180062856 180062856 A G rs763536745 CEP350 Nonsynonymous SNV N2539S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 265916 chr3 129324645 129324645 C G rs753152584 PLXND1 Nonsynonymous SNV V280L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 265917 chr4 141578698 141578698 G A rs772746663 TBC1D9 Synonymous SNV A730A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 265918 chr1 181021592 181021592 T G MR1 Nonsynonymous SNV Y231D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 265919 chr1 241665852 241665852 T G rs200796606 FH Nonsynonymous SNV Q376P 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 31 265920 chr4 106880248 106880248 A G rs374630291 NPNT Nonsynonymous SNV N408S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.549 265921 chr1 182554568 182554568 A G RNASEL Synonymous SNV D458D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.298 265922 chr1 183542318 183542318 A G NCF2 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 265923 chr4 153897775 153897775 C A rs139837077 FHDC1 Nonsynonymous SNV A1111D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 265924 chr1 185902765 185902765 C T rs753767956 HMCN1 Nonsynonymous SNV A546V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.81 265925 chr4 155410540 155410540 C G rs575742067 DCHS2 Synonymous SNV V656V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.605 265926 chr4 159634386 159634386 A G PPID Nonsynonymous SNV I260T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 265927 chr1 197480878 197480878 C A DENND1B Nonsynonymous SNV D599Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 265928 chr1 198703485 198703485 C G rs139089055 PTPRC Nonsynonymous SNV F575L 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 31 265929 chr1 200776628 200776628 A G rs371728869 CAMSAP2 Nonsynonymous SNV Y175C 0 0 0.007 0 0 0 0 2 0 0 0 0 28.2 265930 chr1 200867440 200867440 G A INAVA Nonsynonymous SNV G56E 0 0 0.007 0 0 0 0 2 0 0 0 0 15.13 265931 chr4 146686863 146686863 G A rs113470073 ZNF827 Nonsynonymous SNV S963L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 265932 chr4 120213856 120213856 C T rs771849087 USP53 Synonymous SNV A853A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.621 265933 chr4 153273708 153273708 G A rs751929497 FBXW7 Nonsynonymous SNV R59W 0.001 0 0 0 1 0 0 0 0 0 0 0 6.929 265934 chr4 7062898 7062898 T C GRPEL1 Synonymous SNV A115A 0.003 0 0 0 4 0 0 0 0 0 0 0 0.051 265935 chr1 206328835 206328835 T C rs199845829 CTSE Nonsynonymous SNV I301T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 265936 chr1 207975053 207975054 TG - rs768970841 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 265937 chr1 20964573 20964573 C T rs34677717 PINK1 Nonsynonymous SNV P209L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 4.489 265938 chr1 212977961 212977961 G C TATDN3 Nonsynonymous SNV G131A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 265939 chr3 129285389 129285389 G T rs377733691 PLXND1 Nonsynonymous SNV P1391Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 265940 chr1 213125070 213125070 C T rs747873360 VASH2 Synonymous SNV T62T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 265941 chr3 129291704 129291704 C T rs200818763 PLXND1 Nonsynonymous SNV R973Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 23 265942 chr1 214546171 214546171 G A rs115169012 PTPN14 Synonymous SNV G973G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.909 265943 chr1 214802479 214802479 C G rs202217426 CENPF Nonsynonymous SNV Q387E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 265944 chr4 1801030 1801030 C T rs143548893 FGFR3 Synonymous SNV S53S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.98 265945 chr1 216019213 216019213 A G rs138574386 USH2A Nonsynonymous SNV V3003A 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.326 265946 chr3 130124996 130124996 A T rs572953732 COL6A5 Nonsynonymous SNV I1468F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.008 265947 chr1 217622647 217622647 G A rs144624552 GPATCH2 Nonsynonymous SNV T437M 0 0 0.007 0 0 0 0 2 0 0 0 0 17.31 265948 chr4 79207645 79207645 G T rs201490843 FRAS1 Nonsynonymous SNV V496L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.37 265949 chr4 90034252 90034252 C T rs866669644 TIGD2 Nonsynonymous SNV R43C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 265950 chr1 227216715 227216715 G C rs201775243 CDC42BPA Nonsynonymous SNV Q1296E 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 265951 chr1 228432061 228432061 C T rs147753732 OBSCN Synonymous SNV A1090A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.942 265952 chr1 46095294 46095294 G A rs148045088 GPBP1L1 Nonsynonymous SNV P409L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 265953 chr1 22928223 22928223 C T rs370302532 EPHA8 Nonsynonymous SNV R1003W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 265954 chr5 112197075 112197075 T C SRP19 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 265955 chr1 229461044 229461044 C G rs375812703 CCSAP Nonsynonymous SNV A251P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.327 265956 chr3 58376381 58376381 A C rs1046296638 PXK Nonsynonymous SNV D17A 0 0 0 2 0 0 0.005 0 0 0 0 0 22.3 265957 chr4 6611544 6611544 T A MAN2B2 Nonsynonymous SNV Y625N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 265958 chr1 236341794 236341794 C T rs147078955 GPR137B Nonsynonymous SNV T182M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 265959 chr4 672464 672464 G A MYL5 Synonymous SNV K7K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.555 265960 chr5 127666282 127666282 T A rs751400994 FBN2 Nonsynonymous SNV D1443V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 265961 chr1 23697642 23697642 C G ZNF436-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.486 265962 chr5 131877595 131877595 A G IL5 Nonsynonymous SNV C105R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 265963 chr1 2421302 2421302 G C rs753057199 PLCH2 Nonsynonymous SNV G477A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 265964 chr5 135567111 135567111 G A rs376972495 TRPC7 Synonymous SNV N541N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 265965 chr5 137727810 137727810 C T KDM3B Nonsynonymous SNV A830V 0 0 0 1 0 0 0.003 0 0 0 0 0 21 265966 chr4 8230083 8230083 C T rs368970503 SH3TC1 Nonsynonymous SNV R812C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 265967 chr5 135276979 135276979 G A FBXL21P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.486 265968 chr1 85655957 85655957 A G rs747341639 SYDE2 Synonymous SNV S408S 0.003 0.003 0 3 3 1 0.008 0 0 0 0 0 0.165 265969 chr1 26672650 26672650 G A rs373726692 CRYBG2 Nonsynonymous SNV R167W 0 0 0.003 0 0 0 0 1 0 0 0 0 3.856 265970 chr1 27106100 27106100 A C ARID1A Nonsynonymous SNV E1904A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 265971 chr1 914937 914937 G A rs764170424 PERM1 Synonymous SNV P491P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.519 265972 chr1 32193164 32193164 G A rs544570941 ADGRB2 Nonsynonymous SNV R1505W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 265973 chr5 140740715 140740715 T C rs1024151798 PCDHGB2 Nonsynonymous SNV L338P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 265974 chr4 94138050 94138050 T G GRID2 Synonymous SNV A222A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 265975 chr1 33960696 33960696 C T rs201829951 ZSCAN20 Synonymous SNV L918L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.23 265976 chr1 36552585 36552585 C T rs142723316 TEKT2 Nonsynonymous SNV A229V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.6 265977 chr5 1201844 1201844 G A SLC6A19 Nonsynonymous SNV E27K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 265978 chr5 141028985 141028985 C T rs201659999 FCHSD1 Nonsynonymous SNV A118T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 265979 chr1 40705156 40705156 C T rs145611435 RLF Synonymous SNV Y1594Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.579 265980 chr5 131728234 131728234 A G rs142264458 SLC22A5 Synonymous SNV R459R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.265 265981 chr20 17639954 17639983 TTGCCCTGGTTCTGGGCCCCTTCTACTTTT - rs761251477 RRBP1 V392_K401del 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 265982 chr1 43896743 43896743 C T rs138762270 SZT2 Nonsynonymous SNV S1576L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.8 265983 chr5 138860433 138860433 G A rs138074216 STING1 Synonymous SNV N35N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.548 265984 chr5 172744943 172744943 G A STC2 Synonymous SNV A272A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 265985 chr5 1053546 1053546 G A rs375355777 SLC12A7 Synonymous SNV V1026V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 265986 chr1 52385648 52385648 G A rs200904195 RAB3B Nonsynonymous SNV T204M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 265987 chr5 138209232 138209232 G A rs201004428 LRRTM2 Nonsynonymous SNV H340Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 265988 chr5 176520287 176520287 G C rs147603016 FGFR4 Synonymous SNV P402P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.06 265989 chr5 140731836 140731836 - C rs770682065 PCDHGB1 Frameshift insertion L671Pfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 265990 chr5 140723783 140723783 G A rs199728541 PCDHGA3 Synonymous SNV E61E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.822 265991 chr1 6522200 6522200 G T rs750788575 TNFRSF25 Nonsynonymous SNV T77N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.298 265992 chr1 65305425 65305425 T C JAK1 Synonymous SNV T901T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.796 265993 chr5 149998260 149998260 G A SYNPO Nonsynonymous SNV V111M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 265994 chr5 35954457 35954457 G A UGT3A1 Synonymous SNV P473P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.963 265995 chr5 38950113 38950113 G A RICTOR Synonymous SNV L1279L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.416 265996 chr5 145509670 145509670 G C rs187036851 LARS1 Nonsynonymous SNV L801V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 265997 chr5 41313801 41313801 G A rs1042533453 PLCXD3 Nonsynonymous SNV A295V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 265998 chr4 56890672 56890672 G A rs368917402 CEP135 Nonsynonymous SNV R1109Q 0 0 0 2 0 0 0.005 0 0 0 0 0 35 265999 chr5 159776559 159776559 C G C1QTNF2 Nonsynonymous SNV K158N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 266000 chr4 15689178 15689178 C T rs948933034 FAM200B Nonsynonymous SNV T193I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 266001 chr5 33662041 33662041 G A rs778079422 ADAMTS12 Synonymous SNV D340D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 266002 chr5 45262236 45262236 C G HCN1 Synonymous SNV T820T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.61 266003 chr5 45696103 45696103 C T HCN1 Synonymous SNV G31G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.42 266004 chr1 86249998 86249998 G A rs182355949 COL24A1 Stop gain R671X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 266005 chr5 52243201 52243201 G T rs746901411 ITGA1 Synonymous SNV G1135G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.937 266006 chr5 36985132 36985132 A C NIPBL Nonsynonymous SNV E617A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.401 266007 chr5 38885532 38885532 A C rs148838681 OSMR Nonsynonymous SNV D262A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 266008 chr5 63256928 63256928 G T HTR1A Nonsynonymous SNV P207T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 266009 chr5 176518071 176518071 C A rs751043027 FGFR4 Nonsynonymous SNV A190D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 266010 chr5 155475 155475 G A rs138180145 PLEKHG4B Nonsynonymous SNV A709T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.673 266011 chr20 55982871 55982871 C T RBM38 Nonsynonymous SNV A230V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 266012 chr5 149374970 149374970 C T rs779832239 TIGD6 Synonymous SNV L314L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.961 266013 chr20 57246312 57246312 A C rs754524705 STX16 Nonsynonymous SNV N247H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 266014 chr5 149514367 149514367 T C rs747602665 PDGFRB Nonsynonymous SNV T129A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 266015 chr5 163300 163300 C A rs138837556 PLEKHG4B Nonsynonymous SNV S1038Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.21 266016 chr5 180276867 180276867 C A rs369310525 ZFP62 Nonsynonymous SNV R543I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 266017 chr5 172110756 172110756 C A NEURL1B Synonymous SNV P122P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 266018 chr5 71756475 71756475 G A ZNF366 Synonymous SNV C283C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.49 266019 chr5 154278118 154278118 G A rs780308853 GEMIN5 Nonsynonymous SNV A1075V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 266020 chr5 157170966 157170966 - GCGGGC rs770649947 LSM11 R76_A77insGR 0.001 0 0 0 1 0 0 0 0 0 0 0 266021 chr5 87502292 87502292 G A rs62369771 TMEM161B Nonsynonymous SNV A26V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 266022 chr20 29891248 29891248 A G rs750195620 DEFB116 Nonsynonymous SNV F26L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 266023 chr5 434623 434623 G A rs772631419 AHRR Nonsynonymous SNV G594S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 266024 chr5 43503793 43503793 C A rs145557336 C5orf34 Nonsynonymous SNV M334I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 266025 chr5 179290634 179290634 G A rs557486304 TBC1D9B Synonymous SNV G1172G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.356 266026 chr20 34025124 34025124 C T GDF5 Synonymous SNV E195E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 266027 chr20 3672715 3672715 T A SIGLEC1 Nonsynonymous SNV S1389C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 266028 chr6 107008776 107008776 T C rs772559302 CRYBG1 Nonsynonymous SNV I1577T 0.002 0 0 0 2 0 0 0 0 0 0 0 31 266029 chr20 43922584 43922584 G A rs2233105 MATN4 Nonsynonymous SNV R469C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 35 266030 chr20 44569211 44569211 C T rs148361036 PCIF1 Nonsynonymous SNV S116L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 266031 chr20 44845624 44845624 G A rs144000272 CDH22 Nonsynonymous SNV R227W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 266032 chr20 46262806 46262806 C T rs780175917 NCOA3 Nonsynonymous SNV H327Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 266033 chr4 186605913 186605913 G A SORBS2 Nonsynonymous SNV A19V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 266034 chr6 109798039 109798039 C T rs374643301 ZBTB24 Synonymous SNV P349P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.73 266035 chr21 42752006 42752006 G A rs199686102 MX2 Nonsynonymous SNV G169R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 266036 chr6 121412178 121412181 GCAG - TBC1D32 L1158Nfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 266037 chr4 77283309 77283309 T G rs374450717 CCDC158 Nonsynonymous SNV T664P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.04 266038 chr5 140166306 140166306 A C rs201652084 PCDHA1 Nonsynonymous SNV E144A 0 0 0.003 3 0 0 0.008 1 0 0 0 0 25.3 266039 chr5 7873566 7873566 C G rs41282641 MTRR Synonymous SNV R70R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 12.63 266040 chr6 158014147 158014147 C T rs141376335 ZDHHC14 Synonymous SNV A178A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.7 266041 chr5 95072640 95072640 C T RHOBTB3 Synonymous SNV G92G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 266042 chr22 26937420 26937420 G A rs150457895 TPST2 Synonymous SNV H59H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.24 266043 chr6 109768382 109768382 C T rs779158006 MICAL1 Synonymous SNV L621L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.72 266044 chr6 142397170 142397170 C T rs746892172 NMBR Nonsynonymous SNV R115H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 266045 chr6 144812147 144812147 G A rs762010224 UTRN Nonsynonymous SNV R1449H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 266046 chr6 147038089 147038089 G A rs61748896 ADGB Synonymous SNV E604E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.41 266047 chr22 38051656 38051656 C T SH3BP1 Nonsynonymous SNV P691S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 266048 chr6 21596013 21596013 C T rs146636042 SOX4 Synonymous SNV S416S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 266049 chr22 38522397 38522397 T C rs201801144 PLA2G6 Nonsynonymous SNV M416V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.133 266050 chr6 152774753 152774753 C T rs148346599 SYNE1 Nonsynonymous SNV E1006K 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 Benign/Likely benign 27.3 266051 chr6 130370485 130370485 A G rs142080920 L3MBTL3 Nonsynonymous SNV N54S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 266052 chr6 110048404 110048404 G T FIG4 Stop gain E128X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 266053 chr6 133078886 133078886 G A rs139348170 VNN2 Nonsynonymous SNV S46F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.6 266054 chr22 42999038 42999038 G A POLDIP3 Nonsynonymous SNV S63L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.04 266055 chr6 142468430 142468430 C T rs774098368 VTA1 Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 266056 chr6 16327512 16327512 G A ATXN1 Synonymous SNV L344L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.189 266057 chr22 21385718 21385718 G A rs369802595 SLC7A4 Synonymous SNV I128I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.147 266058 chr6 36870114 36870114 C A rs749068867 C6orf89 Nonsynonymous SNV H110N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 266059 chr5 112173250 112173250 G A rs72541809 APC Synonymous SNV R635R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 9.412 266060 chr22 25282688 25282688 G C rs199841996 SGSM1 Nonsynonymous SNV R588T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 266061 chr6 37619808 37619808 C G rs759760632 MDGA1 Nonsynonymous SNV V431L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 266062 chr6 24433439 24433439 G A GPLD1 Synonymous SNV L804L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.932 266063 chr22 29726516 29726516 C A rs143578268 AP1B1 Nonsynonymous SNV A846S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 266064 chr22 36537397 36537397 C A APOL3 Nonsynonymous SNV V354F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 266065 chr5 151045999 151045999 G T rs141567625 SPARC Nonsynonymous SNV D218E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.5 266066 chr6 160555155 160555155 C G rs201662351 SLC22A1 Stop gain Y279X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 266067 chr5 54579449 54579449 T A DHX29 Nonsynonymous SNV N516I 0 0 0 2 0 0 0.005 0 0 0 0 0 13.17 266068 chr5 54581593 54581593 C G rs149807590 DHX29 Nonsynonymous SNV R388T 0 0 0 2 0 0 0.005 0 0 0 0 0 27.6 266069 chr6 168377233 168377274 CAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGG - HGC6.3 A20_T33del 0.001 0 0 0 1 0 0 0 0 0 0 0 266070 chr22 40803285 40803285 C T rs151232460 SGSM3 Nonsynonymous SNV R378C 0 0 0.003 0 0 0 0 1 0 0 0 0 30 266071 chr5 167855099 167855099 C T rs6874818 WWC1 Synonymous SNV D624D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 266072 chr5 167868710 167868710 G A rs61730022 WWC1 Synonymous SNV A768A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.46 266073 chr6 4995460 4995460 T C rs371944622 RPP40 Nonsynonymous SNV Q292R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.83 266074 chr6 159686032 159686032 C T rs375347761 FNDC1 Synonymous SNV P1760P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 266075 chr6 24580088 24580088 C T KIAA0319 Nonsynonymous SNV S412N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 266076 chr5 143163 143163 C T PLEKHG4B Synonymous SNV D493D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.168 266077 chr22 45593690 45593690 C T rs199962330 KIAA0930 Synonymous SNV P385P 0 0 0.007 0 0 0 0 2 0 0 0 0 17.91 266078 chr6 43146611 43146611 G T rs142698332 SRF Nonsynonymous SNV Q270H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.5 266079 chr6 70840087 70840087 A C rs376367028 COL19A1 Nonsynonymous SNV H452P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.393 266080 chr2 131704157 131704157 G T ARHGEF4 Nonsynonymous SNV A1312S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 266081 chr22 47189577 47189577 G A rs370656255 TBC1D22A Nonsynonymous SNV R81H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 266082 chr22 50279192 50279192 C T rs199728678 ZBED4 Nonsynonymous SNV R628W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 266083 chr6 46623746 46623746 G A rs764234756 SLC25A27 Synonymous SNV V91V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 266084 chr6 79679877 79679877 A G rs764953163 PHIP Nonsynonymous SNV M1004T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 266085 chr6 84574021 84574021 A G CYB5R4 Nonsynonymous SNV K68R 0.002 0 0 0 2 0 0 0 0 0 0 0 14 266086 chr22 50885577 50885577 G A rs372332373 SBF1 Synonymous SNV D1867D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.98 266087 chr6 76369073 76369073 C T rs755625296 SENP6 Nonsynonymous SNV P209S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.094 266088 chr22 50962300 50962300 C T rs147624681 SCO2 Nonsynonymous SNV V181I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 266089 chr6 78538748 78538748 G A rs1040257873 MEI4 Nonsynonymous SNV G290D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.675 266090 chr22 50969188 50969188 G A rs752265629 ODF3B Stop gain Q212X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 266091 chr22 50986513 50986513 G T rs1001692560 KLHDC7B Nonsynonymous SNV G614V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.255 266092 chr6 88060129 88060129 A G C6orf163 Synonymous SNV K87K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.505 266093 chr2 10045022 10045022 C T rs763351690 TAF1B Nonsynonymous SNV T26I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.866 266094 chr2 101609882 101609882 G A rs769103203 NPAS2 Nonsynonymous SNV V729I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.739 266095 chr6 27368847 27368847 G A rs777522196 ZNF391 Nonsynonymous SNV R233H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 266096 chr6 90333161 90333161 T A rs201644644 ANKRD6 Nonsynonymous SNV S251R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 266097 chr2 102818108 102818108 G A rs145899905 IL1RL2 Synonymous SNV A77A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.707 266098 chr6 38561776 38561776 T C rs771966877 BTBD9 Synonymous SNV E112E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.071 266099 chr2 108921917 108921917 A C rs201871499 SULT1C2 Nonsynonymous SNV K215T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.799 266100 chr6 41704626 41704626 C T rs112369210 PGC Synonymous SNV L377L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.994 266101 chr6 41738738 41738738 G A rs116095272 FRS3 Synonymous SNV D366D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.473 266102 chr6 42019187 42019187 A G rs745987899 TAF8 Synonymous SNV T46T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.285 266103 chr6 42147102 42147102 C T rs34925828 GUCA1A Synonymous SNV D189D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign/Likely benign 10.34 266104 chr2 11802090 11802094 AACTG - NTSR2 R300Sfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 266105 chr6 46719833 46719833 T C rs199749836 ANKRD66 Nonsynonymous SNV W105R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 266106 chr6 5085983 5085983 C G rs148308290 PPP1R3G Synonymous SNV P88P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 266107 chr2 150427649 150427649 G C rs141093638 MMADHC Nonsynonymous SNV R216G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 266108 chr2 152321538 152321538 G A rs200831918 RIF1 Nonsynonymous SNV R1835K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 266109 chr6 51656129 51656129 C G rs147222255 PKHD1 Nonsynonymous SNV G2782A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 266110 chr2 162280229 162280229 C T rs779821061 TBR1 Nonsynonymous SNV L514F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 266111 chr2 162363435 162363435 A G rs567748633 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.779 266112 chr7 103179619 103179619 G A rs362747 RELN Synonymous SNV T2362T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 9.156 266113 chr7 123302516 123302516 C G LMOD2 Synonymous SNV L292L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.653 266114 chr7 106851567 106851567 C T rs370066143 COG5 Nonsynonymous SNV A768T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.53 266115 chr2 171239636 171239636 A C rs200668192 MYO3B Synonymous SNV T374T 0 0 0.01 0 0 0 0 3 0 0 0 0 0.338 266116 chr7 127714617 127714617 G A rs144956035 SND1 Nonsynonymous SNV G615S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.21 266117 chr7 112127077 112127077 C T rs1010263737 LSMEM1 Nonsynonymous SNV A76V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.98 266118 chr2 179396751 179396751 G A rs72629788 TTN Nonsynonymous SNV P25799L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.18 266119 chr2 179424333 179424333 A C rs72648226 TTN Synonymous SNV V19777V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.121 266120 chr6 83835256 83835256 A G DOP1A Nonsynonymous SNV Q499R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 266121 chr7 117246792 117246792 A G rs370181570 CFTR Nonsynonymous SNV I991M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.07 266122 chr7 121679611 121679611 A G PTPRZ1 Nonsynonymous SNV N1002S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.27 266123 chr6 88385633 88385633 A G rs144580693 AKIRIN2 Synonymous SNV F182F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.075 266124 chr7 122765723 122765723 A - SLC13A1 G381Vfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 266125 chr6 160857844 160857844 A G SLC22A3 Synonymous SNV P336P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 9.699 266126 chr7 138344725 138344725 G A rs192699726 SVOPL Synonymous SNV L27L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.084 266127 chr7 140055553 140055553 A G SLC37A3 Nonsynonymous SNV V178A 0 0 0 1 0 0 0.003 0 0 0 0 0 27 266128 chr7 150028131 150028131 T - rs779606272 ZBED6CL L213Rfs*111 0.001 0 0 0 1 0 0 0 0 0 0 0 266129 chr6 127440380 127440380 T - RSPO3 F15Lfs*56 0 0.003 0 0 0 1 0 0 0 0 0 0 266130 chr2 207310078 207310078 G A ADAM23 Nonsynonymous SNV D88N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 266131 chr7 138597165 138597165 T C rs778499446 KIAA1549 Nonsynonymous SNV I974V 0.001 0 0 0 1 0 0 0 0 0 0 0 19 266132 chr6 145103259 145103259 C T rs200724401 UTRN Nonsynonymous SNV T2945M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 266133 chr7 149545235 149545235 G A rs774589676 ZNF862 Nonsynonymous SNV R218Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.728 266134 chr2 220154991 220154991 A C PTPRN Nonsynonymous SNV V937G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 266135 chr7 150873298 150873298 G A rs138510080 ASB10 Synonymous SNV S397S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.907 266136 chr7 151882672 151882672 C A rs145848316 KMT2C Nonsynonymous SNV A1685S 0 0 0 2 0 0 0.005 0 0 0 0 0 32 266137 chr6 152673312 152673312 C T rs137919524 SYNE1 Synonymous SNV T3795T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.4 266138 chr7 101256987 101256987 G A rs781393629 MYL10 Synonymous SNV I179I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 266139 chr6 154360591 154360591 G A rs201796075 OPRM1 Nonsynonymous SNV R64Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.35 266140 chr7 132659940 132659940 C G rs201557228 CHCHD3 Nonsynonymous SNV A120P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.9 266141 chr7 4011112 4011112 G A rs201228093 SDK1 Nonsynonymous SNV V577I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.535 266142 chr2 234738306 234738306 G T MROH2A Nonsynonymous SNV G1498V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 266143 chr2 238280683 238280683 C A COL6A3 Nonsynonymous SNV R719M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 266144 chr6 42713480 42713480 C T rs142954171 TBCC Nonsynonymous SNV R111Q 0 0 0 3 0 0 0.008 0 0 0 0 0 26.3 266145 chr7 4855044 4855044 G T rs374880901 RADIL Synonymous SNV V668V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.343 266146 chr6 46135231 46135231 C T rs143412841 ENPP5 Nonsynonymous SNV D163N 0 0 0 2 0 0 0.005 0 0 0 0 0 13.53 266147 chr2 24260906 24260908 GAC - WDCP S486_Q487delinsK 0 0 0.003 0 0 0 0 1 0 0 0 0 266148 chr7 4185504 4185504 G C rs765873612 SDK1 Nonsynonymous SNV W1460S 0 0 0 1 0 0 0.003 0 0 0 0 0 31 266149 chr7 56151835 56151844 GCAGTACCTT - rs756725847 PHKG1 R138del 0.002 0 0 0 2 0 0 0 0 0 0 0 266150 chr2 27353428 27353428 C A rs776077943 ABHD1 Nonsynonymous SNV S345Y 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.1 266151 chr7 150417431 150417431 C T rs370175882 GIMAP1, GIMAP1-GIMAP5 Synonymous SNV H113H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 266152 chr2 28467722 28467722 T C rs776980631 BABAM2 Synonymous SNV L309L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.073 266153 chr7 141727450 141727450 G A rs191269779 MGAM Nonsynonymous SNV G379E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 266154 chr6 52147513 52147513 G A rs544581237 MCM3 Nonsynonymous SNV P67L 0 0 0 2 0 0 0.005 0 0 0 0 0 28.1 266155 chr7 150698352 150698352 G A rs141089940 NOS3 Nonsynonymous SNV A423T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 266156 chr6 53135449 53135449 T C rs41273880 ELOVL5 Nonsynonymous SNV Y233C 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 266157 chr7 154767634 154767634 A C rs61752014 PAXIP1 Synonymous SNV P282P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.221 266158 chr2 69555467 69555467 A G GFPT1 Nonsynonymous SNV I592T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 266159 chr7 16317848 16317848 C A rs761189549 CRPPA Nonsynonymous SNV R230I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.98 266160 chr2 43010533 43010533 G A HAAO Nonsynonymous SNV H91Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 266161 chr2 43933489 43933489 A G rs772601032 PLEKHH2 Synonymous SNV T585T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.436 266162 chr7 86827314 86827314 C T rs376712723 TMEM243 Synonymous SNV P59P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 266163 chr7 72754773 72754773 A G rs782418757 FKBP6 Nonsynonymous SNV Y211C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 266164 chr7 89793982 89793982 G A STEAP1 Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.472 266165 chr7 151891566 151891566 - CTA KMT2C L1488_D1489insV 0.001 0 0 0 1 0 0 0 0 0 0 0 266166 chr7 88964239 88964239 T C rs748808836 ZNF804B Nonsynonymous SNV F648S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.52 266167 chr2 51149761 51149761 C G rs201734514 NRXN1 Nonsynonymous SNV Q279H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 266168 chr7 29552340 29552340 G A rs764959137 CHN2 Nonsynonymous SNV V258I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.32 266169 chr2 68962384 68962384 C T rs775215112 ARHGAP25 Nonsynonymous SNV A18V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 266170 chr2 69747261 69747261 T G rs186029652 SNORA36C 0 0 0.01 0 0 0 0 3 0 0 0 0 11.91 266171 chr7 100074961 100074961 C T rs199511828 TSC22D4 Nonsynonymous SNV R234Q 0 0.003 0 2 0 1 0.005 0 0 0 0 0 18.41 266172 chr7 98649977 98649977 C G SMURF1 Nonsynonymous SNV G191A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 266173 chr7 100205295 100205295 C G rs774433442 PCOLCE Nonsynonymous SNV P350A 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.92 266174 chr7 100279525 100279525 C G GIGYF1 Nonsynonymous SNV R1006T 0 0.003 0 2 0 1 0.005 0 0 0 0 0 25.9 266175 chr2 71192202 71192202 A G rs201234802 ATP6V1B1 Nonsynonymous SNV Y498C 0 0 0.007 0 0 0 0 2 0 0 0 0 28.1 266176 chr7 99091473 99091473 G T rs148228058 ZNF394 Nonsynonymous SNV N455K 0.002 0 0 0 2 0 0 0 0 0 0 0 1.255 266177 chr7 35678033 35678033 C A rs753438859 HERPUD2 Nonsynonymous SNV V182L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.074 266178 chr2 72707872 72707872 T C rs200227562 EXOC6B Nonsynonymous SNV Q445R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.2 266179 chr8 101154324 101154324 G C rs186181742 FBXO43 Nonsynonymous SNV S53C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.32 266180 chr7 73011540 73011540 G T rs782737814 MLXIPL Nonsynonymous SNV N525K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 266181 chr7 26904013 26904013 G C rs769389664 SKAP2 Synonymous SNV P12P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 266182 chr7 43484931 43484931 C T rs183902396 HECW1 Synonymous SNV S720S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.37 266183 chr7 29963649 29963649 G T SCRN1 Nonsynonymous SNV S322Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.311 266184 chr7 29963650 29963650 A T SCRN1 Nonsynonymous SNV S322T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 266185 chr2 95815802 95815802 G T rs144250704 ZNF514 Nonsynonymous SNV S216Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 266186 chr7 99753381 99753381 C T MAP11 Synonymous SNV T167T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 266187 chr7 99764396 99764396 G C rs778013058 GAL3ST4 Nonsynonymous SNV A53G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 266188 chr8 100205240 100205240 T G rs149866274 VPS13B Nonsynonymous SNV S824A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.64 266189 chr2 97373455 97373455 A G rs1039313019 LMAN2L Synonymous SNV P155P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.363 266190 chr3 112992140 112992140 G C rs145076589 BOC Nonsynonymous SNV E396Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 266191 chr7 103175931 103175931 G A rs762035577 RELN Nonsynonymous SNV A2394V 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Uncertain significance 27.6 266192 chr7 69364347 69364347 C G rs145480547 AUTS2 Nonsynonymous SNV L129V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.9 266193 chr7 114271675 114271675 G A FOXP2 Synonymous SNV Q230Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.51 266194 chr7 123672462 123672462 - GCT TMEM229A Q200_R201insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 266195 chr7 87838694 87838694 G A rs183967956 SRI Synonymous SNV D157D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 266196 chr6 90353739 90353739 G A MDN1 Synonymous SNV A5592A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 266197 chr8 144992255 144992255 G A rs782136681 PLEC Nonsynonymous SNV R3898W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 29.4 266198 chr3 126180548 126180548 G A rs763341126 ZXDC Nonsynonymous SNV P653S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.044 266199 chr7 91972484 91972484 C T rs747057661 ANKIB1 Nonsynonymous SNV R312C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 266200 chr8 145169194 145169194 C T rs757452957 WDR97 Nonsynonymous SNV A1203V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.111 266201 chr3 128695902 128695902 G A KIAA1257 Synonymous SNV H160H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 266202 chr3 130095374 130095374 A G COL6A5 Nonsynonymous SNV Y121C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.678 266203 chr7 99661699 99661699 A C ZSCAN21 Nonsynonymous SNV K294T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 266204 chr8 104383935 104383935 - CTGCTC rs760444015 CTHRC1 L22_Q23insLL 0.001 0 0 0 1 0 0 0 0 0 0 0 266205 chr3 140401437 140401437 C T TRIM42 Synonymous SNV L159L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.194 266206 chr8 10587770 10587770 G T rs369872856 SOX7 Nonsynonymous SNV D58E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 266207 chr8 110439386 110439386 G T rs369873942 PKHD1L1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 266208 chr8 110463327 110463327 G C PKHD1L1 Nonsynonymous SNV R2100T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 266209 chr8 11152743 11152743 G C MTMR9 Nonsynonymous SNV D75H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 266210 chr8 21976741 21976741 G A rs760560680 HR Synonymous SNV A1011A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.64 266211 chr8 145617903 145617903 T G ADCK5 Nonsynonymous SNV M504R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 266212 chr8 124096474 124096474 G A TBC1D31 Nonsynonymous SNV G33E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 266213 chr3 158384493 158384493 T C LXN Nonsynonymous SNV Q204R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 266214 chr3 158980368 158980368 C T rs766827460 IQCJ, IQCJ-SCHIP1 Nonsynonymous SNV R36W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 266215 chr3 159986285 159986285 A G rs16831157 IFT80 Synonymous SNV D576D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.399 266216 chr3 160156193 160156193 T C rs76926983 TRIM59 Nonsynonymous SNV H260R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 266217 chr8 32505873 32505873 G A NRG1 Nonsynonymous SNV E213K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 266218 chr3 183887940 183887940 C T rs180815441 DVL3 Nonsynonymous SNV P549S 0 0.003 0 0 0 1 0 0 0 0 0 0 23 266219 chr8 24188669 24188669 T C rs760445061 ADAM28 Synonymous SNV Y370Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.13 266220 chr7 116557813 116557813 G A rs778724933 CAPZA2 Synonymous SNV S251S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 266221 chr3 182810216 182810216 T G rs148616219 MCCC1 Nonsynonymous SNV N85T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.7 266222 chr3 183882114 183882114 G A rs150288196 DVL3 Synonymous SNV S97S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.24 266223 chr8 28196579 28196581 AGA - PNOC K51del 0 0 0 1 0 0 0.003 0 0 0 0 0 266224 chr3 195298212 195298212 G A rs762350501 APOD Synonymous SNV I90I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 266225 chr3 195638797 195638797 G A rs73208007 TNK2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.328 266226 chr3 196733543 196733543 G A rs145095949 MELTF Synonymous SNV N605N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 266227 chr8 77766906 77766906 C T rs374283630 ZFHX4 Synonymous SNV D2583D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.017 266228 chr8 22429896 22429896 C G SORBS3 Nonsynonymous SNV L289V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 266229 chr3 38945586 38945586 T C SCN11A Nonsynonymous SNV K538E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.13 266230 chr3 39229974 39229974 C T rs772227798 XIRP1 Synonymous SNV E321E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.189 266231 chr3 39543743 39543743 C T MOBP Synonymous SNV I61I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 266232 chr3 42678671 42678671 C T rs373971890 NKTR Nonsynonymous SNV S492F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 266233 chr3 42740576 42740576 G A rs145469527 HHATL Nonsynonymous SNV A79V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 266234 chr7 141895970 141895970 A G MGAM2 Nonsynonymous SNV T1455A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 266235 chr7 142574523 142574523 A T rs758477043 TRPV6 Nonsynonymous SNV H225Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 266236 chr8 29018333 29018333 T C KIF13B Nonsynonymous SNV I441V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.29 266237 chr3 45130613 45130613 C T rs144019903 CDCP1 Nonsynonymous SNV A672T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 266238 chr7 156976655 156976655 G A rs146755594 UBE3C Nonsynonymous SNV A359T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.874 266239 chr8 95549360 95549360 T C VIRMA Nonsynonymous SNV T96A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 266240 chr3 48694519 48694519 C T rs766606717 CELSR3 Synonymous SNV G1337G 0 0 0.007 0 0 0 0 2 0 0 0 0 14.91 266241 chr8 68956788 68956788 G A rs772618501 PREX2 Synonymous SNV T302T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 266242 chr7 99269491 99269491 G A rs371669684 CYP3A5 Nonsynonymous SNV T110M 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.601 266243 chr7 99457473 99457473 G C rs774070266 CYP3A43 Nonsynonymous SNV V186L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 0.002 266244 chr9 129102862 129102862 G A MVB12B Nonsynonymous SNV V53I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 266245 chr8 88885221 88885223 CTT - rs537310751 DCAF4L2 E326del 0.002 0 0 0 2 0 0 0 0 0 0 0 266246 chr3 54615874 54615874 T G rs186772682 CACNA2D3 Synonymous SNV T311T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.351 266247 chr3 57616236 57616236 G C DENND6A Nonsynonymous SNV S511C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 266248 chr9 107332192 107332192 G C rs771544855 OR13C8 Synonymous SNV V248V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.648 266249 chr3 68782299 68782299 C T rs146641270 TAFA4 Synonymous SNV T139T 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Benign 17.93 266250 chr9 116854683 116854683 C T rs763582505 KIF12 Synonymous SNV T444T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 266251 chr4 102251500 102251500 A G rs374658171 MIR1255A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.546 266252 chr9 139276487 139276487 G T rs750638258 SNAPC4 Synonymous SNV S702S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 266253 chr9 140094270 140094270 C G rs539737661 TPRN Nonsynonymous SNV E298D 0.003 0 0 0 3 0 0 0 0 0 0 0 26 266254 chr4 140811526 140811526 G A rs779621420 MAML3 Nonsynonymous SNV A355V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.488 266255 chr4 154600656 154600656 C G rs151267125 LOC100419170 0 0 0.007 0 0 0 0 2 0 0 0 0 2.235 266256 chr9 132481580 132481580 G A PRRX2 Synonymous SNV T110T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 266257 chr9 132638502 132638502 C T rs748458000 USP20 Synonymous SNV I798I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 266258 chr4 159573053 159573053 G A rs187147299 RXFP1 Nonsynonymous SNV S659N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 266259 chr4 159780791 159780791 G A rs199995620 FNIP2 Nonsynonymous SNV R20H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 266260 chr4 159790473 159790473 C T rs76877306 FNIP2 Synonymous SNV S541S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 266261 chr4 160225541 160225541 A C rs139146857 RAPGEF2 Synonymous SNV P36P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.192 266262 chr9 2718405 2718405 G C rs746837965 KCNV2 Synonymous SNV A222A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.145 266263 chr9 140109318 140109318 A T rs144580113 NDOR1 Nonsynonymous SNV I271F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.1 266264 chr4 176923628 176923628 G T rs187316912 GPM6A Synonymous SNV R38R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 266265 chr7 93516166 93516166 C T rs200489018 TFPI2 Nonsynonymous SNV S214N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 266266 chr7 93516167 93516167 T G rs781548960 TFPI2 Nonsynonymous SNV S214R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.2 266267 chr7 95166999 95166999 A - rs761686052 ASB4 I404Ffs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 266268 chr9 137805432 137805432 G A rs749646335 FCN1 Nonsynonymous SNV A112V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 266269 chr4 184627977 184627977 C T rs771331017 TRAPPC11 Nonsynonymous SNV R1025C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 266270 chr9 85881935 85881935 C T FRMD3 Nonsynonymous SNV R53H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 266271 chr9 17464532 17464532 C T CNTLN Nonsynonymous SNV H1147Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 266272 chr9 4286174 4286174 T A rs200986848 GLIS3 Nonsynonymous SNV L84F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.6 266273 chr9 88651340 88651340 A T GOLM1 Nonsynonymous SNV V227E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.662 266274 chr4 2242536 2242536 A C rs762430176 HAUS3 Nonsynonymous SNV N46K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 266275 chr9 35561028 35561028 G A rs367967200 RUSC2 Nonsynonymous SNV R550Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 266276 chrX 100646774 100646774 C T rs3027595 RPL36A, RPL36A-HNRNPH2 Synonymous SNV G47G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.65 266277 chr9 140374931 140374931 C T rs142920867 PNPLA7 Nonsynonymous SNV V780I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 266278 chr4 3494957 3494957 C G rs142510199 DOK7 Nonsynonymous SNV P105R 0 0 0.007 0 0 0 0 2 0 0 0 0 14.96 266279 chr4 37440738 37440738 G A NWD2 Nonsynonymous SNV G341E 0 0 0.003 0 0 0 0 1 0 0 0 0 24 266280 chrX 106361769 106361769 G C RBM41 Nonsynonymous SNV P2R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.963 266281 chr4 39246101 39246101 A G rs765795916 WDR19 Synonymous SNV E698E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.639 266282 chr8 143623552 143623552 C T rs776488499 ADGRB1 Synonymous SNV F1319F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.44 266283 chrX 147733566 147733566 C T rs143135907 AFF2 Nonsynonymous SNV R32W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 266284 chr4 48887542 48887542 C T rs147751611 OCIAD2 Nonsynonymous SNV G80R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 266285 chr8 8176077 8176077 G C rs187206430 PRAG1 Nonsynonymous SNV R1270G 0 0 0 3 0 0 0.008 0 0 0 0 0 25.3 266286 chrX 153175244 153175244 T C rs782554635 ARHGAP4 Nonsynonymous SNV N789D 0.009 0.005 0 0 10 2 0 0 2 0 0 0 0.023 266287 chr4 68930539 68930539 G A rs200923126 TMPRSS11F Synonymous SNV D293D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.766 266288 chr4 71467172 71467172 C A rs780715710 AMBN Nonsynonymous SNV P111Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 266289 chr8 144997126 144997126 C T rs561571844 PLEC Nonsynonymous SNV R2310Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 16.87 266290 chr4 71522152 71522152 G A JCHAIN Nonsynonymous SNV T125I 0 0 0.003 0 0 0 0 1 0 0 0 0 27 266291 chr4 74442417 74442417 C T rs147932445 RASSF6 Synonymous SNV P217P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.311 266292 chr4 7770722 7770722 C T rs758053862 AFAP1 Nonsynonymous SNV R672Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 266293 chr9 32407425 32407425 T C rs779020260 ACO1 Synonymous SNV F88F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 266294 chr9 90322185 90322185 A G rs773425467 DAPK1 Nonsynonymous SNV K1400R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.136 266295 chrX 50350531 50350531 T C rs148721221 SHROOM4 Nonsynonymous SNV E1204G 0.003 0 0 0 3 0 0 0 1 0 0 0 Uncertain significance 22.6 266296 chr4 84232041 84232041 G A rs147771139 HPSE Nonsynonymous SNV P168S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 266297 chr4 8442863 8442863 G A rs915822512 TRMT44 Nonsynonymous SNV G105D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 266298 chr4 77231125 77231125 T A STBD1 Nonsynonymous SNV V350E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 266299 chr4 88036099 88036099 C A rs769681125 AFF1 Nonsynonymous SNV P336H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 266300 chrX 153285236 153285236 G A IRAK1 Nonsynonymous SNV P10S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.581 266301 chr1 1250917 1250917 - TT rs762467913 INTS11 Frameshift insertion E73Kfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 266302 chr1 1277466 1277466 G A rs142925511 DVL1 Nonsynonymous SNV R145W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 266303 chr4 96106244 96106244 T C rs146792764 UNC5C Nonsynonymous SNV D747G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 266304 chrX 24073113 24073113 C T rs148505917 EIF2S3 Synonymous SNV L10L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 12.16 266305 chrX 96167327 96167327 C T rs20360 DIAPH2 Synonymous SNV S196S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 266306 chr4 8605802 8605802 G A rs199580862 CPZ Nonsynonymous SNV R188Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.63 266307 chr1 906496 906496 C T rs547187116 PLEKHN1 Nonsynonymous SNV R218C 0.002 0 0 0 2 0 0 0 0 0 0 0 19.85 266308 chr5 10256209 10256209 C T rs756752787 CCT5 Synonymous SNV D103D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 266309 chr5 10680915 10680915 A T DAP Synonymous SNV I173I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.639 266310 chrX 40594975 40594975 T A rs55916251 MED14OS Nonsynonymous SNV M92K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 266311 chr5 115783386 115783386 G A rs372279326 SEMA6A Synonymous SNV C672C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 266312 chr1 1961022 1961022 A G GABRD Nonsynonymous SNV M294V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.82 266313 chr1 2130191 2130191 A G rs753355875 FAAP20 0.001 0 0 0 1 0 0 0 0 0 0 0 0.07 266314 chr1 2409043 2409043 A T PLCH2 Synonymous SNV T28T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 266315 chr1 9324433 9324433 A G rs145918056 H6PD Synonymous SNV S638S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 266316 chrX 68381183 68381183 G A rs771359993 PJA1 Synonymous SNV P578P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.86 266317 chr5 127599227 127599227 G T rs142755118 FBN2 Nonsynonymous SNV H2694Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 266318 chr1 11102939 11102939 C T rs61735598 MASP2 Synonymous SNV T294T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.96 266319 chr5 131940620 131940620 C T rs138749920 RAD50 Nonsynonymous SNV R883C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 266320 chr1 6649206 6649206 C T rs577876105 ZBTB48 Synonymous SNV T667T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 266321 chr1 11288950 11288950 C T rs137863158 MTOR Synonymous SNV L935L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 13.08 266322 chr5 140022177 140022177 C G rs199968038 TMCO6 Nonsynonymous SNV H204D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 266323 chr5 134724739 134724739 C T rs138663997 MACROH2A1 Synonymous SNV R15R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.08 266324 chr1 16261201 16261201 G A rs138278143 SPEN Synonymous SNV Q2822Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.079 266325 chr1 16261256 16261256 A G rs41269147 SPEN Nonsynonymous SNV S2841G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 266326 chr5 140736487 140736487 G A rs964262114 PCDHGA4 Nonsynonymous SNV G605S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 266327 chr5 140782636 140782636 A T rs747569947 PCDHGA9 Synonymous SNV T39T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 266328 chr5 141335809 141335809 G A rs781009066 PCDH12 Synonymous SNV I536I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.623 266329 chr5 14482753 14482753 T C rs377179966 TRIO Synonymous SNV D2176D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.563 266330 chr5 14487666 14487666 G T rs892410126 TRIO Nonsynonymous SNV G2310V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 266331 chr8 9623288 9623288 T C rs142219846 TNKS Synonymous SNV N1178N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.824 266332 chr5 149431497 149431497 C T rs1062028 HMGXB3 Synonymous SNV I1041I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.05 266333 chr5 140720752 140720752 G T PCDHGA2 Synonymous SNV S738S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.744 266334 chr1 21268325 21268325 A G EIF4G3 Nonsynonymous SNV L385P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 266335 chr1 24113776 24113776 C T rs145680822 PITHD1 Synonymous SNV H182H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.39 266336 chr5 156920047 156920047 A G rs762744387 ADAM19 Synonymous SNV P614P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.897 266337 chr5 160059177 160059177 G A rs376276340 ATP10B Nonsynonymous SNV R527C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.671 266338 chr5 149375240 149375240 C A rs758852287 TIGD6 Nonsynonymous SNV M224I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.18 266339 chr10 100189607 100189607 C T rs145364430 HPS1 Nonsynonymous SNV V183M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.876 266340 chr10 100242530 100242530 G A rs140154839 HPSE2 Synonymous SNV Y380Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.508 266341 chr5 172535771 172535771 A G CREBRF Nonsynonymous SNV N456S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 266342 chr5 176684135 176684135 A G rs148839758 NSD1 Nonsynonymous SNV N1650S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 266343 chr10 103826986 103826986 G T rs781537152 HPS6 Nonsynonymous SNV E585D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.7 266344 chr1 31742084 31742084 C T SNRNP40 Nonsynonymous SNV R260H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 266345 chr5 179297322 179297322 G T rs376893114 TBC1D9B Synonymous SNV R886R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.635 266346 chr5 180038364 180038364 G C rs201698561 FLT4 Nonsynonymous SNV P1218R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 266347 chr1 44054596 44054596 C T rs557357295 PTPRF Nonsynonymous SNV R292C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 266348 chr10 24883951 24883951 T A ARHGAP21 Nonsynonymous SNV E1055D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.67 266349 chr10 121212735 121212735 C T rs199631074 GRK5 Nonsynonymous SNV H541Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 266350 chr5 37183196 37183196 C T CPLANE1 Nonsynonymous SNV C1696Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 266351 chr10 121612615 121612615 A G rs200682373 MCMBP Star tloss M174T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 266352 chr1 46086958 46086958 C T CCDC17 Synonymous SNV V461V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.72 266353 chr10 3190247 3190247 A G PITRM1 Synonymous SNV L668L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.998 266354 chr9 136199529 136199529 C T rs782794985 SURF6 Nonsynonymous SNV G154R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 266355 chr10 43620376 43620376 G A RET Synonymous SNV R741R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.45 266356 chr10 43620422 43620422 A G rs368345402 RET Nonsynonymous SNV K757E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 266357 chr5 32248181 32248181 G A rs150057874 MTMR12 Synonymous SNV D316D 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 11.71 266358 chr5 33453515 33453515 G A rs755358781 TARS1 Nonsynonymous SNV A151T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.62 266359 chr1 60314781 60314781 A C HOOK1 Nonsynonymous SNV K390Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 266360 chr10 134999887 134999887 T C KNDC1 Synonymous SNV F345F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 266361 chr1 33837930 33837930 A T PHC2 Nonsynonymous SNV L98H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 266362 chr1 55518408 55518408 G T PCSK9 Nonsynonymous SNV R248L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.2 266363 chr5 74441844 74441844 T G ANKRD31 Nonsynonymous SNV Q1131P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 266364 chr5 43137299 43137299 A G rs762261466 ZNF131 Nonsynonymous SNV N44S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.072 266365 chr1 38148833 38148833 C A rs141474570 C1orf109 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 266366 chrX 153691947 153691947 G A rs375993377 PLXNA3 Synonymous SNV P487P 0 0.005 0 2 0 2 0.005 0 0 1 0 1 2.181 266367 chr1 70505466 70505466 G A rs143979484 LRRC7 Nonsynonymous SNV R1321Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 266368 chr5 54516250 54516250 C T MCIDAS Nonsynonymous SNV A368T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 266369 chr1 78097795 78097795 T C rs142300734 ZZZ3 Synonymous SNV T415T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 266370 chr10 99130292 99130292 G A rs771713481 RRP12 Nonsynonymous SNV S770L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 266371 chr1 43218256 43218256 G A rs373467876 P3H1 Synonymous SNV D475D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.293 266372 chr5 96071908 96071908 G T rs59522190 CAST Synonymous SNV V97V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 9.197 266373 chr5 96507017 96507017 C T rs10055896 RIOK2 Synonymous SNV L224L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.55 266374 chr6 102483425 102483425 C T rs372392956 GRIK2 Synonymous SNV G765G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 266375 chr10 43651126 43651126 C T rs746251791 CSGALNACT2 Stop gain R177X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 266376 chr6 109080641 109080641 T C rs539998666 LINC00222 0 0 0.003 0 0 0 0 1 0 0 0 0 2.009 266377 chr10 75533225 75533225 C T rs375283537 FUT11 Nonsynonymous SNV S329F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 266378 chr1 109815570 109815570 C T rs764788817 CELSR2 Synonymous SNV A2753A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 266379 chr5 904289 904289 C T rs189402529 TRIP13 Synonymous SNV L188L 0 0.003 0 0 0 1 0 0 0 0 0 0 11 266380 chr1 111861201 111861201 C A rs139093708 CHIA Synonymous SNV I111I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.87 266381 chr10 60556231 60556231 G A rs202194967 BICC1 Synonymous SNV L437L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.809 266382 chr6 132929530 132929530 C T rs140500948 TAAR3P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.107 266383 chr10 61011383 61011383 C T rs144555922 FAM13C Nonsynonymous SNV R431Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 266384 chr6 133118146 133118146 A G SLC18B1 Nonsynonymous SNV I53T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 266385 chr6 143095423 143095423 A G rs764001238 HIVEP2 Synonymous SNV P151P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 266386 chr6 147680455 147680455 A G rs781450170 STXBP5 Synonymous SNV P811P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.404 266387 chr1 145537455 145537455 G A rs145538014 ITGA10 Nonsynonymous SNV R679Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.09 266388 chr10 73475833 73475833 G A rs773712134 C10orf105 Nonsynonymous SNV R88W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 266389 chr1 151105533 151105533 C T rs762545048 SEMA6C Synonymous SNV A732A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.29 266390 chr1 151134538 151134538 A G rs200735103 LYSMD1 Synonymous SNV N25N 0 0 0 1 0 0 0.003 0 0 0 0 0 4.586 266391 chr6 155503405 155503406 GG - rs749532567 TIAM2 R918Hfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 266392 chr6 155503407 155503407 - AT rs771721650 TIAM2 Frameshift insertion I919Nfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 266393 chr1 153665650 153665650 C T rs116245325 NPR1 Nonsynonymous SNV L1034F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 266394 chr10 90982277 90982277 G A rs886044197 LIPA Synonymous SNV H179H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.727 266395 chr1 153750245 153750245 - T rs745343614 SLC27A3 Frameshift insertion V350Gfs*46 0 0 0 1 0 0 0.003 0 0 0 0 0 266396 chr1 153902773 153902773 C A rs771379877 DENND4B X1508Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.701 266397 chr1 154931732 154931732 G C rs201563839 PYGO2 Nonsynonymous SNV D248E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.03 266398 chr1 155005718 155005718 C A rs528535055 DCST2 Nonsynonymous SNV L97F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 266399 chr1 155253894 155253894 C G HCN3 Nonsynonymous SNV P280A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.283 266400 chr1 156707235 156707235 C T MRPL24 Nonsynonymous SNV M202I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 266401 chr10 99225835 99225835 G A rs759418527 MMS19 Synonymous SNV L431L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 266402 chr6 2955891 2955891 T C SERPINB6 Nonsynonymous SNV N74S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 266403 chr1 160163591 160163591 A T rs34489853 CASQ1 Nonsynonymous SNV Y140F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 10.82 266404 chr1 161682942 161682942 T C rs768654058 FCRLA Synonymous SNV T49T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.175 266405 chr1 168683500 168683500 A G rs570509194 DPT Synonymous SNV F130F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.91 266406 chr1 152882771 152882860 AGAGCAGCAGGAGGGACAGCTGAAGCACCCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCC - IVL K174_L203del 0.001 0 0 0 1 0 0 0 0 0 0 0 266407 chr1 159783344 159783344 G A rs148328479 FCRL6 Nonsynonymous SNV V359M 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 22.1 266408 chr6 39159346 39159346 G C rs147772924 KCNK5 Nonsynonymous SNV R274G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 266409 chr1 173839634 173839634 C A ZBTB37 Synonymous SNV R91R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 266410 chr6 42821419 42821419 C T rs145613232 BICRAL Synonymous SNV T663T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 266411 chrX 69964031 69964031 G A rs762957753 TEX11 Nonsynonymous SNV T244I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 266412 chr6 43324898 43324898 C T rs746707396 ZNF318 Nonsynonymous SNV R385Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 266413 chr6 44107303 44107303 C T rs145356402 TMEM63B Synonymous SNV S169S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 266414 chr6 46656597 46656597 C T TDRD6 Synonymous SNV P244P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 266415 chr1 183091366 183091366 A G rs765782570 LAMC1 Nonsynonymous SNV N794S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.29 266416 chr11 125853926 125853926 A G rs144054280 CDON Synonymous SNV L946L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.011 266417 chr1 200534627 200534627 G A KIF14 Synonymous SNV L787L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 266418 chr1 201058543 201058543 G A rs200665694 CACNA1S Nonsynonymous SNV T248M 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.4 266419 chr6 39024238 39024238 C G rs10305437 GLP1R Synonymous SNV R48R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.923 266420 chr10 115481466 115481466 C G rs202060178 CASP7 Nonsynonymous SNV R77G 0.003 0 0 0 3 0 0 0 0 0 0 0 13.4 266421 chr11 12280101 12280101 G A rs74669600 MICAL2 Nonsynonymous SNV E830K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 266422 chr6 79943990 79943990 G A rs72893792 HMGN3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 266423 chr10 118360589 118360589 G A PNLIPRP1 Synonymous SNV K313K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 6.854 266424 chr6 97247273 97247273 A G GPR63 Nonsynonymous SNV M112T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 266425 chr1 209779010 209779010 A G rs35618105 CAMK1G Synonymous SNV R142R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.842 266426 chr6 98472445 98472445 C T rs117428639 MIR2113 0 0 0.014 0 0 0 0 4 0 0 0 0 16 266427 chr11 2323396 2323396 G A rs148861275 TSPAN32 Nonsynonymous SNV R6Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 25.2 266428 chr6 56021693 56021693 C T rs535480851 COL21A1 Nonsynonymous SNV G473S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.6 266429 chr1 216373132 216373132 G A rs147947402 USH2A Synonymous SNV Y1216Y 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.639 266430 chr11 1262365 1262365 G A rs375684206 MUC5B Nonsynonymous SNV D1419N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.6 266431 chr11 130340912 130340912 G A rs150734073 ADAMTS15 Synonymous SNV K606K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 266432 chr1 225140459 225140459 G T rs61745064 DNAH14 Stop gain E19X 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 266433 chr1 225155225 225155225 G A rs61732752 DNAH14 Synonymous SNV S147S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.999 266434 chr1 225268294 225268294 G A rs73133544 DNAH14 Nonsynonymous SNV G994S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.17 266435 chr1 201179200 201179200 G A rs76698423 IGFN1 Nonsynonymous SNV G1727S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 266436 chr1 228552683 228552683 C T rs368439227 OBSCN Synonymous SNV A6281A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.911 266437 chr7 1009071 1009071 T C rs774667945 COX19 Synonymous SNV P72P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.37 266438 chr1 229685147 229685147 G A rs138482043 ABCB10 Synonymous SNV I184I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 266439 chr1 230472954 230472954 C T rs73119536 PGBD5 Synonymous SNV V325V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.42 266440 chr7 102769110 102769110 C T NAPEPLD Synonymous SNV R38R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 266441 chr7 103008391 103008391 A C rs373150287 PSMC2 Synonymous SNV R398R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.79 266442 chr7 107434217 107434217 T C rs116793431 SLC26A3 Nonsynonymous SNV I81V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.279 266443 chr7 121678934 121678934 G A PTPRZ1 Synonymous SNV E964E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 266444 chr11 4843406 4843406 T C OR51F2 Nonsynonymous SNV I252T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 266445 chr7 128040190 128040190 G A rs149093302 IMPDH1 Nonsynonymous SNV T168M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 31 266446 chr7 129122880 129122880 C T rs369153977 STRIP2 Synonymous SNV Y749Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 266447 chr7 134743924 134743924 C T rs887402867 AGBL3 Stop gain R117X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 266448 chr7 138486115 138486115 - GACCCTGG TMEM213 Frameshift insertion E48Gfs*50 0 0 0.003 0 0 0 0 1 0 0 0 0 266449 chr1 248153745 248153745 T - rs753402951 OR2L1P 0 0 0 1 0 0 0.003 0 0 0 0 0 266450 chr7 141921090 141921090 C T MGAM2 Nonsynonymous SNV T2260I 0 0 0.003 0 0 0 0 1 0 0 0 0 16 266451 chr1 249150008 249150008 C G rs779542496 ZNF692 Nonsynonymous SNV R221T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.32 266452 chr11 55579122 55579122 C T rs150531317 OR5L1 Synonymous SNV Y60Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.789 266453 chr7 105254807 105254807 G A rs769330690 ATXN7L1 Synonymous SNV S534S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.526 266454 chr7 11075362 11075362 T C PHF14 Synonymous SNV Y517Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.127 266455 chr10 72360386 72360386 C T rs778821122 PRF1 Synonymous SNV A91A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.27 266456 chr7 149523011 149523011 C G rs10224753 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 9.152 266457 chr7 120767212 120767212 C T rs267601250 CPED1 Synonymous SNV F401F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 266458 chr7 150706583 150706583 G A NOS3 Nonsynonymous SNV G808S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 266459 chr7 150737673 150737673 C G rs200904308 ABCB8 Nonsynonymous SNV P359R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.2 266460 chr2 21247983 21247983 C T rs148502464 APOB Nonsynonymous SNV G753E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 23.8 266461 chr11 5624631 5624631 G A rs750531134 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV C58Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.3 266462 chr11 563289 563289 G A rs34358040 RASSF7 Nonsynonymous SNV R308Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.306 266463 chr2 25040629 25040629 C T rs961264594 CENPO Nonsynonymous SNV S280L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 266464 chr2 27324175 27324175 C T rs778615710 CGREF1 Synonymous SNV V308V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.034 266465 chr7 21856150 21856150 C T rs748648201 DNAH11 Synonymous SNV A3466A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.57 266466 chr2 26203459 26203459 C T rs760016402 KIF3C Nonsynonymous SNV R443H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.44 266467 chr11 57080115 57080115 G A rs781240048 TNKS1BP1 Nonsynonymous SNV R683C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 266468 chr10 95372895 95372895 T C rs139456217 PDE6C Nonsynonymous SNV L138S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.7 266469 chr2 37459326 37459326 C T rs146409773 NDUFAF7 Nonsynonymous SNV R45W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 266470 chr2 37518105 37518105 A G rs138302731 PRKD3 Synonymous SNV H155H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.945 266471 chr2 50765589 50765589 T C rs200074974 NRXN1 Nonsynonymous SNV I621V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.69 266472 chr7 3990584 3990584 C G rs765690257 SDK1 Nonsynonymous SNV P293A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 266473 chr2 20153613 20153613 C T rs200140363 WDR35 Nonsynonymous SNV R461Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 31 266474 chr2 38297995 38297995 G T CYP1B1 Nonsynonymous SNV A501E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.39 266475 chr11 60617428 60617428 C G rs145131633 CCDC86 Nonsynonymous SNV R302G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 266476 chr2 61575250 61575250 T C USP34 Synonymous SNV E680E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 266477 chr2 63282681 63282681 A G OTX1 Nonsynonymous SNV S99G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.61 266478 chr11 61077790 61077790 A G rs773293195 DDB1 Nonsynonymous SNV I793T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 266479 chr11 61252829 61252829 C T rs141041531 PPP1R32 Nonsynonymous SNV S177L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 266480 chr7 150921192 150921192 T C rs766292652 ABCF2, LOC114483834 Nonsynonymous SNV M126V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 266481 chr7 47968968 47968968 A T PKD1L1 Nonsynonymous SNV L298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 266482 chr11 108032101 108032101 C T rs200156065 NPAT Nonsynonymous SNV A1245T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.027 266483 chr11 64021952 64021952 G A PLCB3 Synonymous SNV T55T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.543 266484 chr7 6660965 6660965 C T rs916803633 ZNF853 Nonsynonymous SNV H100Y 0 0 0.007 0 0 0 0 2 0 0 0 0 19.11 266485 chr7 70239033 70239033 T G AUTS2 Nonsynonymous SNV V617G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 266486 chr11 65123964 65123964 G A rs146429235 TIGD3 Nonsynonymous SNV E229K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 28.1 266487 chr7 86781521 86781521 T C rs147236227 LOC101927420 0 0 0.007 0 0 0 0 2 0 0 0 0 3.795 266488 chr11 116633548 116633548 T C rs73588409 BUD13 Nonsynonymous SNV R253G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 266489 chr11 116643617 116643617 C A rs35585096 BUD13 Nonsynonymous SNV A22S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.6 266490 chr11 116658645 116658645 G A rs367894029 ZPR1 Nonsynonymous SNV A21V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.875 266491 chr11 59368050 59368050 T C rs2229394 OSBP Synonymous SNV P410P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.884 266492 chr11 116728889 116728889 C T rs56247967 SIK3 Nonsynonymous SNV A990T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.25 266493 chr7 95625371 95625371 G A rs148644569 DYNC1I1 Nonsynonymous SNV V299I 0 0 0.007 0 0 0 0 2 0 0 0 0 13.1 266494 chr11 66103461 66103461 G A rs574562225 RIN1 Synonymous SNV T57T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.767 266495 chr11 66133643 66133643 G A rs8187661 SLC29A2 Nonsynonymous SNV R265C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.85 266496 chr11 66136842 66136842 C G rs190643110 SLC29A2 Nonsynonymous SNV Q91H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 266497 chr11 66358755 66358755 A G CCDC87 Nonsynonymous SNV W578R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.002 266498 chr11 66359781 66359781 G C rs183896760 CCDC87 Nonsynonymous SNV P236A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.4 266499 chr11 66812106 66812106 C A SYT12 Nonsynonymous SNV L179I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 266500 chr8 102656413 102656413 A G rs34213258 GRHL2 Synonymous SNV P508P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.215 266501 chr11 61111410 61111410 C A TKFC Synonymous SNV A355A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 266502 chr8 10468465 10468465 G A RP1L1 Nonsynonymous SNV P1048L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.364 266503 chr11 62502964 62502964 G T rs138276343 TTC9C Nonsynonymous SNV A117S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 266504 chr2 128324306 128324306 G A rs202156444 MYO7B Nonsynonymous SNV R125H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.91 266505 chr11 62763264 62763264 T A rs11568482 SLC22A8 Nonsynonymous SNV I182F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 266506 chr2 128477853 128477853 G A WDR33 Synonymous SNV L582L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.452 266507 chr8 125035826 125035826 A C rs767526348 FER1L6 Nonsynonymous SNV H759P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 266508 chr11 64567116 64567116 - C rs756932984 MAP4K2 Frameshift insertion Q319Afs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 266509 chr8 130777975 130777975 C T rs148475316 GSDMC Nonsynonymous SNV V157M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 266510 chr8 133492733 133492733 C G KCNQ3 Nonsynonymous SNV G16A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 266511 chr8 133858076 133858076 C T rs372444914 PHF20L1 Nonsynonymous SNV L962F 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 266512 chr11 65394969 65394969 C T rs201164438 PCNX3 Synonymous SNV T1206T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 266513 chr2 161025742 161025742 T C rs142185271 ITGB6 Nonsynonymous SNV E238G 0 0 0 2 0 0 0.005 0 0 0 0 0 22.1 266514 chr11 1276437 1276437 T C rs777138393 MUC5B Synonymous SNV S5277S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.078 266515 chr11 130286200 130286200 G A rs572124856 ADAMTS8 Synonymous SNV D374D 0.003 0 0 0 3 0 0 0 0 0 0 0 12.1 266516 chr8 142867669 142867671 TGT - rs555046211 MIR1302-7 0 0 0.007 0 0 0 0 2 0 0 0 0 266517 chr11 803529 803529 G A rs142349182 PIDD1 Synonymous SNV P118P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.01 266518 chr2 168997252 168997252 C G rs770138220 STK39 Synonymous SNV A215A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.96 266519 chr2 170003389 170003389 A G LRP2 Nonsynonymous SNV V4224A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.83 266520 chr2 170092421 170092421 A T rs775105684 LRP2 Nonsynonymous SNV S1617T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.9 266521 chr2 170103472 170103472 G A rs114842875 LRP2 Nonsynonymous SNV T978M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.16 266522 chr11 66276719 66276719 T C rs1043716785 DPP3 Synonymous SNV A707A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 266523 chr11 57155325 57155325 C T PRG2 Nonsynonymous SNV R160H 0 0 0 2 0 0 0.005 0 0 0 0 0 12.65 266524 chr11 1857117 1857117 T G rs140608988 SYT8 Nonsynonymous SNV V102G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 266525 chr2 160885432 160885432 T C rs139957604 PLA2R1 Nonsynonymous SNV N295S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.9 266526 chr2 179441472 179441472 C T TTN Nonsynonymous SNV G14102S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 266527 chr8 144993490 144993490 C T rs201387815 PLEC Nonsynonymous SNV R3486H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.32 266528 chr11 72560927 72560927 G C rs781628927 FCHSD2 Nonsynonymous SNV A439G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 266529 chr12 101703604 101703604 A G rs368178402 UTP20 Nonsynonymous SNV I740V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.75 266530 chr11 59834497 59834497 A G rs754821430 MS4A3 Nonsynonymous SNV N19S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.539 266531 chr8 145750318 145750318 A G rs765807399 LRRC24 Nonsynonymous SNV L14P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.782 266532 chr8 146002905 146002905 T G rs759321346 ZNF34 Nonsynonymous SNV E73A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 266533 chr2 151343917 151343917 T C rs11885462 RND3 Synonymous SNV R5R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.258 266534 chr8 16961984 16961993 TTTGAAGATT - MICU3 E352Ifs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 266535 chr11 75672550 75672550 A G rs75431002 UVRAG Nonsynonymous SNV E219G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 266536 chr2 196619222 196619222 C T rs754811352 DNAH7 Nonsynonymous SNV G3868D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 266537 chr11 418586 418586 C T ANO9 Nonsynonymous SNV V568M 0.002 0 0 0 2 0 0 0 0 0 0 0 25 266538 chr2 198593295 198593295 - A BOLL Frameshift insertion W170Lfs*41 0.001 0 0 1 1 0 0.003 0 0 0 0 0 266539 chr8 27146713 27146713 G A rs144655176 TRIM35 Nonsynonymous SNV R251C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 266540 chr12 113770621 113770621 C T rs571587280 SLC8B1 Synonymous SNV A21A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.96 266541 chr11 9202366 9202366 G C rs375135196 DENND5A Nonsynonymous SNV T444S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 266542 chr8 37794278 37794278 G A rs201093228 GOT1L1 Synonymous SNV F241F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 266543 chr12 121853973 121853973 G A rs537636270 RNF34 Synonymous SNV T6T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.07 266544 chr12 123054366 123054366 G A KNTC1 Nonsynonymous SNV G619R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 266545 chr12 123285783 123285783 C G CCDC62 Nonsynonymous SNV Q364E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 266546 chr8 56698288 56698288 G A rs147468755 TGS1 Synonymous SNV A59A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.433 266547 chr12 124397738 124397738 T C rs892344953 DNAH10 Synonymous SNV L3292L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 266548 chr2 220342126 220342126 C T rs150628707 SPEG Nonsynonymous SNV A1563V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 35 266549 chr2 220421379 220421379 G A rs200449388 OBSL1 Nonsynonymous SNV T1378M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.9 266550 chr2 220470935 220470935 C G rs143390649 STK11IP Nonsynonymous SNV P290A 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 266551 chr12 112707572 112707572 A G HECTD4 Synonymous SNV L753L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.181 266552 chr2 228565742 228565742 G C rs768902061 SLC19A3 Nonsynonymous SNV R9G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.14 266553 chr12 113538446 113538447 CA - RASAL1 L726Rfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 266554 chr2 224760318 224760318 T C WDFY1 Nonsynonymous SNV I210V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.02 266555 chr9 107576739 107576739 G C rs141006151 ABCA1 Synonymous SNV A1252A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 266556 chr2 224828615 224828615 C G rs141166571 MRPL44 Nonsynonymous SNV T264S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 266557 chr2 232320798 232320798 T C rs16828079 NCL Synonymous SNV E585E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.315 266558 chr12 120611488 120611488 G A rs200379423 GCN1 Synonymous SNV A445A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.64 266559 chr12 121205260 121205260 T G rs756602166 SPPL3 Nonsynonymous SNV N304H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 266560 chr12 51584342 51584342 G C rs767073212 POU6F1 Synonymous SNV A508A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.27 266561 chr9 114393696 114393696 G A DNAJC25, DNAJC25-GNG10 Synonymous SNV A3A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 266562 chr2 236715967 236715967 A G rs1028176976 AGAP1 Nonsynonymous SNV I348V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.65 266563 chr12 124298332 124298332 A G rs75259413 DNAH10 Nonsynonymous SNV N1100S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 266564 chr11 82877242 82877242 A G rs528329105 PCF11 Nonsynonymous SNV M435V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.574 266565 chr2 241073351 241073351 G A rs138633243 COPS9 Synonymous SNV N45N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 266566 chr12 4736146 4736146 T A rs138981206 AKAP3 Nonsynonymous SNV Y641F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 266567 chr8 27456125 27456125 C T rs746198403 CLU Nonsynonymous SNV V398I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.625 266568 chr2 220348957 220348957 G T rs1004552194 SPEG Nonsynonymous SNV A2258S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 266569 chr9 130270189 130270189 G A rs61732274 NIBAN2 Synonymous SNV Y524Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.178 266570 chr9 130891489 130891489 G C PTGES2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.308 266571 chr2 227662945 227662945 G T IRS1 Synonymous SNV P170P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.161 266572 chr8 56986629 56986629 G A rs1020995286 RPS20 Synonymous SNV S31S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.521 266573 chr3 9989426 9989426 C A PRRT3 Synonymous SNV G477G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.66 266574 chr8 67485610 67485610 C T rs560281195 MYBL1 Synonymous SNV K534K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 266575 chr12 104139038 104139038 C T STAB2 Nonsynonymous SNV S2040L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 266576 chr12 30834736 30834736 C T rs149978470 IPO8 Nonsynonymous SNV M113I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.1 266577 chr3 13421091 13421091 T C rs753215815 NUP210 Synonymous SNV G316G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.93 266578 chr3 14199736 14199736 G A rs190103795 XPC Synonymous SNV H356H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.574 266579 chr12 53201464 53201464 G A rs200604682 KRT4 Nonsynonymous SNV A437V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.7 266580 chr12 53298615 53298615 C T rs200996175 KRT8 Nonsynonymous SNV G51S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 266581 chr3 30842558 30842558 G C rs73061102 GADL1 Nonsynonymous SNV S358C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.81 266582 chr9 139371984 139371984 G A SEC16A Synonymous SNV S28S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 266583 chr11 597018 597018 C T rs753494482 PHRF1 Nonsynonymous SNV A239V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.071 266584 chr11 60703856 60703856 T C rs539899026 TMEM132A Nonsynonymous SNV M851T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 266585 chr2 242065894 242065894 C T PASK Synonymous SNV R812R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.264 266586 chr12 58090147 58090147 C T rs200191525 OS9 Synonymous SNV A131A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.8 266587 chr3 42251580 42251580 - GGAGGAGGAGGA TRAK1 E624_G625insEEEE 0 0 0 1 0 0 0.003 0 0 0 0 0 266588 chr3 38753882 38753882 C T rs145032037 SCN10A Nonsynonymous SNV V1189I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 266589 chr12 63328441 63328441 C G rs749669503 PPM1H Nonsynonymous SNV G26R 0 0.003 0 0 0 1 0 0 0 0 0 0 22 266590 chr9 14113017 14113017 G T rs759415688 NFIB Nonsynonymous SNV S231Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 266591 chr9 16727868 16727868 G C BNC2 Nonsynonymous SNV T44S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 266592 chr3 42448438 42448438 C T LYZL4 Synonymous SNV E64E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.503 266593 chr9 21141354 21141354 C G IFNW1 Nonsynonymous SNV Q72H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 266594 chr12 6935995 6935995 G A rs138578985 GPR162 Nonsynonymous SNV E181K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.32 266595 chr11 64108124 64108124 G C rs147780757 CCDC88B Nonsynonymous SNV G36R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.75 266596 chr9 34997193 34997193 C T rs771978603 DNAJB5 Synonymous SNV R400R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.058 266597 chr12 12975633 12975633 A G rs773264856 DDX47 Synonymous SNV K200K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.162 266598 chr9 36171176 36171176 G A CCIN Synonymous SNV K559K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.216 266599 chr9 37731074 37731074 G A rs550566906 FRMPD1 Nonsynonymous SNV V278M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 266600 chr12 7867853 7867853 G C rs200485546 DPPA3 Nonsynonymous SNV V53L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 266601 chr3 49698524 49698524 C T rs148698248 BSN Synonymous SNV T3082T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 6.449 266602 chr11 65308739 65308741 CTT - rs749595547 LTBP3 K917del 0.003 0 0 0 3 0 0 0 0 0 0 0 266603 chr9 69002257 69002257 A G rs1042551075 MIR1299 0 0 0.003 0 0 0 0 1 0 0 0 0 4.439 266604 chr11 65561705 65561705 C T rs547964049 OVOL1 Nonsynonymous SNV R102C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 266605 chr3 52811722 52811722 G C rs755344777 ITIH1 Nonsynonymous SNV A31P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 266606 chr11 6635910 6635910 C T rs368697480 TPP1 Nonsynonymous SNV R520H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.46 266607 chr3 51661692 51661692 A G rs774902472 RAD54L2 Nonsynonymous SNV H88R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.186 266608 chr9 90500569 90500569 G A rs118103831 SPATA31E1 Synonymous SNV P389P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.569 266609 chr3 57281497 57281497 C T rs565715367 APPL1 Synonymous SNV S232S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.72 266610 chr3 57312645 57312645 G A rs148483216 ASB14 Synonymous SNV G112G 0 0 0 2 0 0 0.005 0 0 0 0 0 6.712 266611 chr9 97369097 97369097 T C rs112446147 FBP1 Synonymous SNV P235P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.73 266612 chrM 1738 1738 A G RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 266613 chrM 1767 1767 C T RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 266614 chrM 665 665 A G RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 266615 chrM 724 724 C T RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 266616 chr13 103524732 103524732 C A rs142856022 BIVM-ERCC5, ERCC5 Nonsynonymous SNV L955I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.65 266617 chr3 73047240 73047240 G A rs116717282 PPP4R2 Nonsynonymous SNV R16K 0 0 0 1 0 0 0.003 0 0 0 0 0 25 266618 chrX 108625398 108625398 T C GUCY2F Synonymous SNV Q1033Q 0.002 0 0.007 0 2 0 0 2 1 0 1 0 0.004 266619 chr13 109704696 109704696 A G rs145969618 MYO16 Nonsynonymous SNV Q974R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.5 266620 chr3 99514536 99514536 C T rs145535583 COL8A1 Synonymous SNV P597P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.727 266621 chr3 74334623 74334623 C T rs767086180 CNTN3 Nonsynonymous SNV G846D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22 266622 chr11 75134761 75134761 - G rs766985854 KLHL35 Frameshift insertion E513Afs*18 0.003 0 0 0 3 0 0 0 0 0 0 0 266623 chr13 24823791 24823791 - GACCCCCAGAAGGAAGACCGTGTGGACGAG rs755504414 SPATA13 Q623_A624insKEDRVDEDPQ 0 0.003 0 0 0 1 0 0 0 0 0 0 266624 chr3 56651505 56651505 G T CCDC66 Stop gain E704X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 266625 chr13 33684123 33684123 G A rs547592042 STARD13 Synonymous SNV D860D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.39 266626 chr10 101961855 101961855 T C rs777436676 CHUK Nonsynonymous SNV H520R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.514 266627 chr13 110802770 110802770 C T COL4A1 Synonymous SNV L1650L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 266628 chr10 105363058 105363058 G A rs766669522 SH3PXD2A Synonymous SNV S520S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.469 266629 chr13 114773040 114773040 T C rs770987351 RASA3 Nonsynonymous SNV S539G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.69 266630 chr13 115022586 115022586 A G rs773223874 CDC16 Synonymous SNV E283E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 266631 chr13 20426139 20426141 ACA - rs761783939 ZMYM5 V61del 0.001 0 0 0 1 0 0 0 0 0 0 0 266632 chr10 1142159 1142159 G A WDR37 Synonymous SNV P233P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 266633 chr13 21751117 21751117 A G rs561593357 MRPL57 Nonsynonymous SNV H21R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 266634 chr10 115609952 115609952 T C DCLRE1A Synonymous SNV Q304Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.517 266635 chr13 25374636 25374636 A G rs35957316 RNF17 Synonymous SNV Q574Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.22 266636 chr13 25439091 25439091 C T RNF17 Synonymous SNV Y1348Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.818 266637 chr13 25480616 25480616 T A rs17081368 CENPJ Synonymous SNV T520T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.005 266638 chr13 25480943 25480943 C T rs112133852 CENPJ Synonymous SNV P411P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.571 266639 chr13 25487001 25487001 G C rs17081389 CENPJ Nonsynonymous SNV P55A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 1.513 266640 chr13 25744012 25744012 G A rs35684062 AMER2 Synonymous SNV S582S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.599 266641 chr3 138409946 138409946 T C rs34601499 PIK3CB Synonymous SNV Q156Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.575 266642 chr3 139280115 139280115 C T NMNAT3 Nonsynonymous SNV G77S 0 0 0 2 0 0 0.005 0 0 0 0 0 10.61 266643 chr13 32729717 32729717 C T rs373081011 FRY Synonymous SNV A523A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 266644 chr9 6007379 6007379 T C rs533157930 KIAA2026 Nonsynonymous SNV M137V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.628 266645 chr3 148459024 148459024 T C rs988598349 AGTR1 Synonymous SNV L68L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 266646 chr3 148597602 148597602 G T rs144291888 CPA3 Nonsynonymous SNV A168S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.14 266647 chr12 109654428 109654428 G A rs376968963 ACACB Nonsynonymous SNV R1119H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 266648 chr3 151165342 151165342 C T rs142039752 IGSF10 Synonymous SNV P809P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 266649 chr10 129676506 129676506 G A rs144081279 CLRN3 Synonymous SNV T196T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.931 266650 chr10 13043230 13043230 A C rs775862668 CCDC3 Nonsynonymous SNV V114G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 266651 chr10 131565114 131565114 C T rs201197934 MGMT Synonymous SNV S159S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 266652 chr3 158449978 158449978 G T rs938022263 RARRES1 Stop gain S76X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 266653 chr10 133949491 133949491 C T rs762758891 JAKMIP3 Nonsynonymous SNV R271C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 266654 chr12 117402622 117402622 G T rs559416426 FBXW8 Nonsynonymous SNV R200S 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 266655 chr3 129137120 129137120 - CT rs764766705 EFCAB12 Frameshift insertion E220Rfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 266656 chr3 130735112 130735112 G A rs112198892 ASTE1 Nonsynonymous SNV R529W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 266657 chr13 97999207 97999207 A G rs766396400 MBNL2 Synonymous SNV K230K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.581 266658 chr3 130947466 130947466 G A rs138864243 NEK11 Synonymous SNV A357A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.333 266659 chr12 94692545 94692545 C T rs780485309 PLXNC1 Synonymous SNV D1404D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.38 266660 chr10 15573110 15573110 A G rs138034749 ITGA8 Nonsynonymous SNV F959S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 31 266661 chr12 122677482 122677482 C T rs749559297 LRRC43 Nonsynonymous SNV P427L 0.003 0 0 0 4 0 0 0 0 0 0 0 6.827 266662 chr3 185376142 185376142 G A rs778041902 IGF2BP2 Nonsynonymous SNV P313L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 266663 chr14 24633858 24633858 C T IRF9 Nonsynonymous SNV R229C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 266664 chr3 183580552 183580552 C T rs768880973 PARL Nonsynonymous SNV R167Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.1 266665 chr10 26575385 26575385 G A rs369617935 GAD2 Nonsynonymous SNV V450I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 266666 chr3 186938030 186938030 C T rs35472527 MASP1 Synonymous SNV A643A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.96 266667 chr12 131590354 131590354 G A rs757126279 ADGRD1 Nonsynonymous SNV A611T 0.003 0 0 0 3 0 0 0 0 0 0 0 25 266668 chr3 186980420 186980420 G C MASP1 Nonsynonymous SNV S109C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 266669 chr12 133384599 133384599 C T rs752245819 GOLGA3 Synonymous SNV A352A 0.003 0 0 0 3 0 0 0 0 0 0 0 10.98 266670 chrX 17157045 17157045 G A REPS2 Synonymous SNV V624V 0 0.005 0 0 0 2 0 0 0 1 0 0 10.38 266671 chr3 195594467 195594467 G T TNK2 Nonsynonymous SNV T918N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 266672 chr3 196199542 196199542 T C rs35121944 RNF168 Synonymous SNV Q288Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.018 266673 chr3 194162156 194162156 T A rs368297588 ATP13A3 Nonsynonymous SNV M532L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 266674 chr3 196678838 196678838 G A rs74554271 PIGZ Nonsynonymous SNV P22L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.23 266675 chr12 18237549 18237549 C T rs201085120 RERGL Synonymous SNV G78G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.38 266676 chr12 21205047 21205047 C A SLCO1B7 Nonsynonymous SNV S403Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.008 266677 chr3 183059358 183059358 G T MCF2L2 Nonsynonymous SNV S112R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 266678 chr3 183685528 183685528 A G ABCC5 Synonymous SNV S124S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.906 266679 chr4 1305886 1305886 C T rs761960635 MAEA Synonymous SNV A63A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.03 266680 chrX 46713127 46713127 G A RP2 Nonsynonymous SNV D107N 0 0.003 0 0 0 1 0 0 0 0 0 0 15 266681 chr4 2240475 2240475 T C rs143360308 HAUS3 Nonsynonymous SNV Y402C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.953 266682 chr4 2306943 2306943 G A rs151119461 ZFYVE28 Nonsynonymous SNV A345V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.011 266683 chr4 2721742 2721742 G A rs534197687 FAM193A Nonsynonymous SNV R1206Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.677 266684 chr10 61844449 61844449 G T ANK3 Synonymous SNV R463R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.559 266685 chr14 61747745 61747747 AGA - rs777966876 TMEM30B F40del 0 0.003 0 0 0 1 0 0 0 0 0 0 266686 chr4 3491416 3491416 C T rs141141719 DOK7 Nonsynonymous SNV P78L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.54 266687 chr12 31633092 31633092 G A rs377601066 DENND5B Nonsynonymous SNV T112I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 266688 chr12 32895559 32895559 T C rs144811347 DNM1L Synonymous SNV H474H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.86 266689 chr10 70427001 70427001 C A rs770375775 TET1 Nonsynonymous SNV T1554N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 266690 chr4 6377562 6377562 G A rs763126722 PPP2R2C Nonsynonymous SNV T130M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 266691 chr12 43886344 43886344 T C rs754938173 ADAMTS20 Nonsynonymous SNV H347R 0.003 0 0 0 3 0 0 0 0 0 0 0 23 266692 chr14 31816979 31816979 T C rs776338648 HEATR5A Nonsynonymous SNV Q948R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 266693 chr14 71227778 71227778 A G rs201170692 MAP3K9 Synonymous SNV A8A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 266694 chr10 73055586 73055586 C T rs775733714 UNC5B Nonsynonymous SNV R721W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 266695 chr10 74034036 74034036 C A rs747331431 DDIT4 Nonsynonymous SNV P21H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 266696 chr4 8293165 8293165 C T rs144431760 HTRA3 Synonymous SNV I259I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.16 266697 chr4 8467283 8467284 AA - rs754629613 TRMT44 R257Sfs*20 0.002 0.003 0 0 2 1 0 0 0 0 0 0 266698 chr4 1399882 1399882 C T rs763467299 NKX1-1 Nonsynonymous SNV A117T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 266699 chr4 13602232 13602232 C G rs139589377 BOD1L1 Nonsynonymous SNV A2098P 0.003 0 0.003 1 4 0 0.003 1 0 0 0 0 16.97 266700 chr14 52521002 52521002 G A rs746625647 NID2 Nonsynonymous SNV H269Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 266701 chr4 25019732 25019732 T C LGI2 Synonymous SNV L178L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.974 266702 chr14 58600004 58600004 G - ARMH4 M476Wfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 266703 chr4 3487348 3487348 C T rs553239093 DOK7 Nonsynonymous SNV H202Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 266704 chr10 96162924 96162924 C A rs896960306 TBC1D12 Nonsynonymous SNV A185E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 266705 chr10 97007062 97007062 T C rs765502144 PDLIM1 Nonsynonymous SNV M199V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 266706 chr10 98741437 98741437 A G rs1027151757 LCOR Nonsynonymous SNV H407R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 266707 chr14 105685562 105685562 A G BRF1 Nonsynonymous SNV L224P 0 0 0 2 0 0 0.005 0 0 0 0 0 32 266708 chr12 56622956 56622956 G T rs772067168 NABP2 Nonsynonymous SNV V199F 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 266709 chr12 57589764 57589764 G A rs372860582 LRP1 Synonymous SNV K2893K 0.003 0 0 0 4 0 0 0 0 0 0 0 13.09 266710 chr12 57591949 57591949 G A LRP1 Nonsynonymous SNV R3098H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.4 266711 chr15 58471435 58471435 G A rs199569670 AQP9 Nonsynonymous SNV V137I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 2.246 266712 chr15 33261141 33261141 G A FMN1 Nonsynonymous SNV P698S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.813 266713 chr4 83838190 83838190 A G rs759301770 THAP9 Synonymous SNV Q275Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 266714 chr1 22172701 22172701 C G rs377366418 HSPG2 Synonymous SNV S2789S 0 0.005 0 0 0 2 0 0 0 0 0 0 14.42 266715 chr4 83791573 83791573 T C rs34554214 SEC31A Nonsynonymous SNV I258V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.635 266716 chr11 111709016 111709016 A G ALG9 Nonsynonymous SNV L249P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 266717 chr4 85419215 85419220 GACGAC - rs772315752 NKX6-1 S58_S59del 0.002 0 0 0 2 0 0 0 0 0 0 0 266718 chr4 85569724 85569724 G A rs148659910 CDS1 Nonsynonymous SNV S424N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 266719 chr14 31099759 31099759 T C rs61754480 SCFD1 Nonsynonymous SNV I3T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 266720 chr4 86916522 86916522 G A rs149024248 ARHGAP24 Nonsynonymous SNV R379H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 266721 chr4 88052273 88052273 C T rs17012488 AFF1 Synonymous SNV A632A 0.003 0 0 1 4 0 0.003 0 0 0 0 0 18.44 266722 chr12 78515821 78515821 G A NAV3 Nonsynonymous SNV R1284Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 266723 chr15 45661600 45661600 C T rs765074779 GATM Synonymous SNV T136T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.04 266724 chr15 52556396 52556396 G A MYO5C Synonymous SNV S346S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.919 266725 chr11 120350901 120350901 A G rs763377209 ARHGEF12 Synonymous SNV E1314E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.961 266726 chr4 114269453 114269453 C A rs761254386 ANK2 Nonsynonymous SNV Q641K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.2 266727 chr15 26793197 26793197 T C GABRB3 Nonsynonymous SNV R304G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 266728 chr1 29528541 29528541 G A rs138091159 MECR Synonymous SNV L148L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Benign/Likely benign 11.8 266729 chr12 9254208 9254208 C T rs149774234 A2M Synonymous SNV E293E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.771 266730 chr4 109088909 109088909 G C rs934777102 LEF1 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 266731 chr4 120549755 120549778 CTGCTGCTGCTTCTGCTGCTGGGG - PDE5A P17_Q24del 0.001 0 0 0 1 0 0 0 0 0 0 0 266732 chr4 122053787 122053787 T C TNIP3 X326W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.543 266733 chr11 124972173 124972173 C T rs370572577 TMEM218 Nonsynonymous SNV A24T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.956 266734 chr15 41804363 41804363 C T rs142529901 LTK Nonsynonymous SNV E154K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 266735 chr15 72039380 72039380 C T rs146042172 THSD4 Nonsynonymous SNV S387L 0 0.005 0.003 0 0 2 0 1 0 0 0 0 24 266736 chr11 125825556 125825556 C T rs765981350 VSIG10L2 Nonsynonymous SNV P760S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.344 266737 chr15 72638660 72638660 G A rs939203533 HEXA Nonsynonymous SNV P446L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.85 266738 chr4 155720370 155720370 T C rs147420234 RBM46 Synonymous SNV A352A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.071 266739 chr15 43701851 43701851 T G TP53BP1 Nonsynonymous SNV E1796D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 266740 chr13 25265124 25265124 T C ATP12A Synonymous SNV T274T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 266741 chr13 25479956 25479956 A G CENPJ Synonymous SNV P740P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.02 266742 chr11 19736037 19736037 C T LOC100126784 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 266743 chr13 33349160 33349160 G A rs369936443 PDS5B Synonymous SNV R1438R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.76 266744 chr15 62210347 62210347 A G VPS13C Nonsynonymous SNV L2540S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 266745 chr15 90173634 90173634 G A rs147191956 KIF7 Nonsynonymous SNV R1068W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 266746 chr15 90185489 90185489 C T rs370339841 KIF7 Nonsynonymous SNV R780Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 266747 chr1 55457722 55457722 G A rs149361095 TMEM61 Synonymous SNV P193P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.93 266748 chr15 90196026 90196026 G A rs567170163 KIF7 Nonsynonymous SNV R46C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 266749 chr11 298622 298622 G A rs141240817 IFITM5 Nonsynonymous SNV T93M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27.5 266750 chr11 3239554 3239554 C G MRGPRG Nonsynonymous SNV V164L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.017 266751 chr13 43462391 43462391 - AAAT EPSTI1 Frameshift insertion F410Ifs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 266752 chr4 155412289 155412289 T C DCHS2 Synonymous SNV V73V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.151 266753 chr5 21752263 21752263 G C CDH12 Nonsynonymous SNV N432K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 266754 chr5 21802280 21802280 C A rs138517275 CDH12 Nonsynonymous SNV V194F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 266755 chr13 78272100 78272100 G C SLAIN1 Nonsynonymous SNV G18R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.71 266756 chr11 45935697 45935697 A C rs759092071 PEX16 Nonsynonymous SNV V251G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.43 266757 chr11 46750345 46750345 A G rs780791596 F2 Nonsynonymous SNV Y477C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 266758 chr14 103433434 103433434 T C rs147925899 CDC42BPB Nonsynonymous SNV K807R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 266759 chr5 44388624 44388626 GAA - FGF10 S56del 0 0 0 1 0 0 0.003 0 0 0 0 0 266760 chr5 56179470 56179470 A G rs201159436 MAP3K1 Synonymous SNV Q1261Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.78 266761 chr5 61779030 61779030 G A rs369569349 IPO11 Nonsynonymous SNV V351I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.14 266762 chr5 68470128 68470128 A T CCNB1 Synonymous SNV G199G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.53 266763 chr15 90328693 90328693 C T rs370461277 ANPEP Nonsynonymous SNV G931S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 266764 chr5 59284442 59284442 G T rs748984656 PDE4D Nonsynonymous SNV P49T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 266765 chr15 91136912 91136912 C T rs368007764 CRTC3 Synonymous SNV H92H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 266766 chr15 91290646 91290646 T C BLM Synonymous SNV N8N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.087 266767 chr15 95022255 95022255 G A rs34193492 MCTP2 Nonsynonymous SNV A822T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.88 266768 chr15 97326806 97326806 C T SPATA8 0.001 0 0 0 1 0 0 0 0 0 0 0 5.138 266769 chr16 29884727 29884727 C T rs139373007 SEZ6L2 Synonymous SNV P660P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.63 266770 chr16 29884970 29884970 C T rs149601538 SEZ6L2 Nonsynonymous SNV V615I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.77 266771 chr5 76342450 76342450 C T rs147756581 AGGF1 Synonymous SNV D383D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.49 266772 chr11 55703334 55703334 A G OR5I1 Synonymous SNV C181C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.086 266773 chr16 31230742 31230742 C T rs369542040 TRIM72 Nonsynonymous SNV R207W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 266774 chr5 80626334 80626334 C G rs148630854 ACOT12 Nonsynonymous SNV S516T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 266775 chr14 24004095 24004095 G A rs535401006 ZFHX2 Nonsynonymous SNV A147V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.431 266776 chr14 31590690 31590698 GCAGGGATG - HECTD1 P1710_L1712del 0.003 0 0 0 3 0 0 0 0 0 0 0 266777 chr16 4960930 4960930 G A rs577728221 PPL Nonsynonymous SNV S28L 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 28.4 266778 chr16 75271227 75271227 G A rs376400260 BCAR1 Nonsynonymous SNV R7C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 266779 chr11 57076931 57076931 C A rs760809695 TNKS1BP1 Nonsynonymous SNV G1085V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 266780 chr14 50267157 50267157 A G rs756795071 NEMF Nonsynonymous SNV S764P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.6 266781 chr14 51190367 51190367 G A rs577314958 NIN Synonymous SNV D2072D 0.003 0 0 0 3 0 0 0 0 0 0 0 17.54 266782 chr16 57847611 57847611 C T LOC388282 Synonymous SNV T38T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.096 266783 chr5 129096139 129096139 T G rs967460674 MINAR2 Nonsynonymous SNV D78E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 266784 chr5 131008371 131008371 T C rs373270669 FNIP1 Nonsynonymous SNV H561R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 266785 chr11 59830015 59830015 C T rs113705070 MS4A3 Synonymous SNV H77H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.479 266786 chr16 69727536 69727547 CAGCAGCAGCAA - rs780700941 NFAT5 Q1056_Q1059del 0 0.003 0 0 0 1 0 0 0 0 0 0 266787 chr16 28884578 28884578 C T rs370302573 SH2B1 Stop gain R680X 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 266788 chr16 31447969 31447969 G C rs542196619 ZNF843 Nonsynonymous SNV R68G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 266789 chr16 31448030 31448030 G A rs757895906 ZNF843 Synonymous SNV S47S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.241 266790 chr11 62293457 62293457 A G rs757739169 AHNAK Nonsynonymous SNV I2811T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 266791 chr11 62622977 62622977 G A rs755814147 SNHG1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.876 266792 chr5 140794066 140794066 T G PCDHGA10 Nonsynonymous SNV F442V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 266793 chr16 47703174 47703174 T G PHKB Nonsynonymous SNV L826V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 266794 chr11 640253 640253 C G rs200996360 DRD4 Nonsynonymous SNV A335G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 24.5 266795 chr14 75745743 75745743 G T FOS Nonsynonymous SNV A20S 0.003 0 0 0 3 0 0 0 0 0 0 0 29.3 266796 chr11 64088231 64088231 C T rs914606659 PRDX5 Synonymous SNV G90G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 266797 chr16 88496498 88496518 TCCGGCCCCAGAGGTCCCAGC - rs113102840 ZNF469 P876_G882del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 266798 chr16 88504733 88504733 G A rs111494864 ZNF469 Nonsynonymous SNV V3619M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 6.919 266799 chr11 65233590 65233590 A G rs780122364 LOC101927789 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 266800 chr5 149404196 149404196 G A HMGXB3 Synonymous SNV E305E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.981 266801 chr16 88705543 88705543 G A rs202143365 IL17C Nonsynonymous SNV R54Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 266802 chr16 88744897 88744897 G A rs746409341 SNAI3 Synonymous SNV L280L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.743 266803 chr16 88781004 88781004 C T rs148822873 CTU2 Nonsynonymous SNV T317M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 266804 chr5 150701709 150701709 C T rs202021417 SLC36A2 Nonsynonymous SNV V360I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 266805 chr17 16004888 16004888 C G rs61754982 NCOR1 Nonsynonymous SNV S696T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.154 266806 chr17 16247954 16247954 G A rs139933903 CENPV Synonymous SNV G217G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 266807 chr17 16347216 16347216 G A rs75142273 LRRC75A Nonsynonymous SNV P202L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 266808 chr16 57702267 57702267 C T rs768416571 ADGRG3 Nonsynonymous SNV T3M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 266809 chr11 65793726 65793728 TGG - rs748690968 CATSPER1 H42del 0 0 0.003 0 0 0 0 1 0 0 0 0 266810 chr11 65822729 65822729 G T rs368653791 SF3B2 Synonymous SNV L147L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.571 266811 chr14 91772264 91772264 C A rs201044013 CCDC88C Nonsynonymous SNV A1068S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 266812 chr16 89199546 89199546 G A rs766713747 ACSF3 Synonymous SNV V149V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.49 266813 chr17 17120409 17120409 C T rs779913370 FLCN Nonsynonymous SNV V384I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.3 266814 chr16 89592755 89592755 C T rs774774648 SPG7 Stop gain R213X 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 41 266815 chr16 66436780 66436780 T C CDH5 Nonsynonymous SNV V688A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 266816 chr16 67264254 67264254 C T rs1039772478 FHOD1 Nonsynonymous SNV R1005H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 266817 chr11 68192670 68192670 C T rs377258285 LRP5 Nonsynonymous SNV R532C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 34 266818 chr16 67765465 67765465 G A RANBP10 Nonsynonymous SNV H150Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 266819 chr5 167919718 167919718 C T rs774572597 RARS1 Nonsynonymous SNV R79C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 266820 chr14 96706741 96706741 G A rs200693201 BDKRB2 Nonsynonymous SNV A26T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.047 266821 chr5 170736526 170736526 G A rs200001019 TLX3 Nonsynonymous SNV G53S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.01 266822 chr5 173534369 173534369 C A rs749111376 NSG2 Nonsynonymous SNV P126H 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 27.5 266823 chr11 71628731 71628731 C T rs780693896 LOC100133315 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 266824 chr5 176860948 176860948 G A rs35270792 GRK6 Nonsynonymous SNV A48T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.1 266825 chr11 74441891 74441891 C T rs141077727 CHRDL2 Nonsynonymous SNV A15T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 266826 chr17 17797066 17797066 C T rs905363686 TOM1L2 Nonsynonymous SNV R92Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 266827 chr5 176931152 176931152 G A rs116054363 DOK3 Synonymous SNV P385P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.398 266828 chr11 76114731 76114731 C T rs558858325 GVQW3 Nonsynonymous SNV A137V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.279 266829 chr5 179318538 179318538 C A rs575958923 TBC1D9B Synonymous SNV R295R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.19 266830 chr17 28383149 28383149 A G EFCAB5 Synonymous SNV L724L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.811 266831 chr11 76924933 76924933 A G rs375943719 MYO7A Nonsynonymous SNV K2156R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 266832 chr11 77386177 77386177 T C rs148977432 RSF1 Nonsynonymous SNV M1156V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 266833 chr11 784010 784010 C T rs552263104 LOC171391 0 0 0.003 0 0 0 0 1 0 0 0 0 17.72 266834 chr6 3106074 3106074 C T RIPK1 Synonymous SNV L409L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.989 266835 chr6 7230846 7230846 C T rs201261986 RREB1 Synonymous SNV A838A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.565 266836 chr6 10704822 10704822 C T rs918988293 PAK1IP1 Synonymous SNV D193D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.79 266837 chr17 26818594 26818594 T C rs375660512 SLC13A2 Synonymous SNV T287T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.505 266838 chr17 26948143 26948143 C G KIAA0100 Nonsynonymous SNV R1559P 0 0.003 0 0 0 1 0 0 0 0 0 0 34 266839 chr16 88724348 88724348 C T rs116232108 MVD Synonymous SNV P77P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.61 266840 chr6 24576821 24576821 C T rs548250591 KIAA0319 Synonymous SNV L458L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.31 266841 chr15 42839714 42839714 A C LRRC57 Nonsynonymous SNV D79E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 266842 chr17 28706683 28706683 C G rs530282755 CPD Nonsynonymous SNV P229A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 7.235 266843 chr5 180661471 180661471 A G rs765650329 TRIM41 Nonsynonymous SNV H530R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.11 266844 chr17 10348149 10348149 C T rs185824725 MYH4 Nonsynonymous SNV R1845H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 266845 chr6 38903468 38903468 C T DNAH8 Nonsynonymous SNV T3636I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 266846 chr17 37359258 37359258 A G RPL19 Synonymous SNV T84T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.659 266847 chr12 109605817 109605817 C T ACACB Synonymous SNV P301P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 266848 chr12 109634881 109634881 C T rs138898549 ACACB Synonymous SNV H850H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.904 266849 chr16 67291286 67291286 G A SLC9A5 Synonymous SNV V357V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.36 266850 chr12 10978331 10978331 G C TAS2R10 Nonsynonymous SNV L180V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.165 266851 chr17 3916824 3916824 C T rs147838442 ZZEF1 Nonsynonymous SNV G2833D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 266852 chr12 112613651 112613651 T C HECTD4 Nonsynonymous SNV K3838R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 266853 chr15 63941964 63941964 G C HERC1 Synonymous SNV T3569T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.744 266854 chr6 46554836 46554836 C T rs144585896 CYP39A1 Nonsynonymous SNV G238R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 32 266855 chr1 246707851 246707851 G A rs200729611 TFB2M Nonsynonymous SNV R331C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 266856 chr6 51875165 51875165 T C rs753493590 PKHD1 Nonsynonymous SNV N1898S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.55 266857 chr17 40820199 40820199 C T rs114542978 PLEKHH3 Synonymous SNV P776P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 266858 chr12 123960226 123960226 C T RILPL1 Nonsynonymous SNV R380Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 266859 chr12 124272420 124272420 C T rs144145237 DNAH10 Synonymous SNV A436A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 266860 chr12 124841328 124841328 G T rs758743334 NCOR2 Nonsynonymous SNV A1024D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 266861 chr12 124979785 124979785 T C rs763323535 NCOR2 Nonsynonymous SNV T5A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.596 266862 chr15 85525576 85525576 G A PDE8A Synonymous SNV K61K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.769 266863 chr6 71377828 71377828 C T SMAP1 Synonymous SNV A34A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 266864 chr17 28754489 28754489 A G rs752701883 CPD Nonsynonymous SNV I397V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 266865 chr17 4594275 4594275 A C PELP1 Nonsynonymous SNV C110G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 266866 chr12 14774990 14774990 A G rs747591765 GUCY2C Synonymous SNV N850N 0 0 0.007 0 0 0 0 2 0 0 0 0 6.428 266867 chr12 21997424 21997424 A G ABCC9 Nonsynonymous SNV I1103T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 266868 chr6 97578747 97578747 C T KLHL32 Nonsynonymous SNV R374W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 266869 chr6 109748067 109748067 C T rs374742257 PPIL6 Nonsynonymous SNV G173D 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 266870 chr17 3922999 3922999 T C ZZEF1 Nonsynonymous SNV K2490R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 266871 chr16 89266204 89266204 G A rs746326734 SLC22A31 Nonsynonymous SNV T17M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.498 266872 chr6 112386173 112386173 C A rs781797281 CCN6 Nonsynonymous SNV L188I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.48 266873 chr6 112671414 112671414 C T rs200858654 RFPL4B Synonymous SNV D168D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.571 266874 chr17 59984979 59984979 C G rs201091134 INTS2 Nonsynonymous SNV S324T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.35 266875 chr17 60758235 60758235 C A rs762018744 MRC2 Nonsynonymous SNV Q850K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 266876 chr17 60758237 60758237 G A rs770093177 MRC2 Synonymous SNV Q850Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.67 266877 chr6 123039055 123039055 C T PKIB Nonsynonymous SNV T39I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.27 266878 chr17 60814457 60814457 G A MARCHF10 Nonsynonymous SNV P258S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.121 266879 chr6 112397170 112397170 A G rs149859191 TUBE1 Nonsynonymous SNV I261T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 266880 chr17 12661489 12661489 G C rs781150543 MYOCD Nonsynonymous SNV E716Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.4 266881 chr16 17292142 17292142 G A rs201009902 XYLT1 Nonsynonymous SNV R406W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 266882 chr6 142689042 142689042 T A rs75679810 ADGRG6 Nonsynonymous SNV I147N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 16.12 266883 chr12 52981584 52981584 C T rs368767777 KRT72 Nonsynonymous SNV A339T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 266884 chr6 135287507 135287507 C T rs370235823 HBS1L Nonsynonymous SNV R626H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 266885 chr6 138724706 138724706 A T HEBP2 Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.379 266886 chr16 21014519 21014519 A G rs139719326 DNAH3 Synonymous SNV Y1965Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.993 266887 chr6 139563848 139563848 G A TXLNB Stop gain Q624X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 266888 chr12 56215891 56215891 T C rs199633418 DNAJC14 Nonsynonymous SNV N660S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 266889 chr17 25638541 25638541 G T rs139922584 WSB1 Synonymous SNV V189V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 266890 chr6 159636003 159636003 C T rs201987200 FNDC1 Nonsynonymous SNV R163C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 266891 chr12 57884408 57884408 C T rs765580781 MARS Nonsynonymous SNV R251W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 266892 chr12 57921358 57921358 G A rs138777973 MBD6 Synonymous SNV P717P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.499 266893 chr12 57922330 57922330 C G rs781452745 MBD6 Nonsynonymous SNV S936C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 266894 chr17 5433924 5433924 C T rs200758471 NLRP1 Nonsynonymous SNV D1103N 0.001 0 0 0 1 0 0 0 0 0 0 0 17 266895 chr17 29622917 29622917 G A rs537790590 OMG Synonymous SNV L145L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.253 266896 chr17 56385284 56385284 C G rs139104560 TSPOAP1 Nonsynonymous SNV A1524P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.035 266897 chr6 169053880 169053880 C T rs151010390 SMOC2 Synonymous SNV D419D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.751 266898 chr17 3627410 3627418 GACGATCCT - HASPIN D68_D70del 0 0 0 1 0 0 0.003 0 0 0 0 0 266899 chr7 4285389 4285389 C T rs141125485 SDK1 Synonymous SNV T598T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.33 266900 chr7 5410073 5410073 C T rs775911434 TNRC18 Synonymous SNV L1384L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.679 266901 chr12 89917473 89917473 T C rs770026727 GALNT4, POC1B-GALNT4 Nonsynonymous SNV Q285R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 266902 chr7 5781424 5781424 C T rs753281424 RNF216 Nonsynonymous SNV R75Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 266903 chr7 6035210 6035210 G T rs201921616 PMS2 Nonsynonymous SNV D180E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.13 266904 chr17 7906510 7906510 G T rs771232307 GUCY2D Nonsynonymous SNV A49S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 9.076 266905 chr7 7410457 7410457 C T rs569760279 COL28A1 Nonsynonymous SNV V989I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 266906 chr12 94603451 94603451 A G rs748867732 PLXNC1 Nonsynonymous SNV I509V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 266907 chr12 96983279 96983279 G A rs746520919 CFAP54 Synonymous SNV S1050S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.58 266908 chr12 97334296 97334296 G C NEDD1 Nonsynonymous SNV M320I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 266909 chr7 17854478 17854478 T C SNX13 Synonymous SNV G692G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.174 266910 chr16 57481454 57481454 G A rs758943543 COQ9 Nonsynonymous SNV A13T 0.003 0 0 0 3 0 0 0 0 0 0 0 17.82 266911 chr13 100637351 100637351 G A ZIC2 Synonymous SNV R409R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 266912 chr16 57798091 57798091 G A rs139069247 KIFC3 Synonymous SNV Y425Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.552 266913 chr7 21600754 21600754 T A rs776466911 DNAH11 Synonymous SNV P316P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.23 266914 chr16 66918258 66918258 G A PDP2 Nonsynonymous SNV R24K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.031 266915 chr17 8700778 8700778 G A rs74899363 MFSD6L Nonsynonymous SNV S554L 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 27.6 266916 chr13 113739281 113739281 G A rs150220613 MCF2L Nonsynonymous SNV D675N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 266917 chr13 114545812 114545812 C T rs180713761 GAS6-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.638 266918 chr7 21789309 21789309 A G rs1043674651 DNAH11 Nonsynonymous SNV N2896S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.748 266919 chr7 36373749 36373749 A G KIAA0895 Nonsynonymous SNV I328T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 266920 chr7 37780459 37780459 A G rs764266586 GPR141 Nonsynonymous SNV Y155C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 266921 chr2 152293365 152293365 C T rs140926635 RIF1 Nonsynonymous SNV P407L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 266922 chr17 74004573 74004573 C T EVPL Synonymous SNV G1593G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.659 266923 chr13 32907129 32907129 T C rs28897708 BRCA2 Nonsynonymous SNV I505T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.937 266924 chr17 74387032 74387032 C A UBE2O Nonsynonymous SNV D1291Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 266925 chr7 45142977 45142977 C T rs752501258 TBRG4 Synonymous SNV A267A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 266926 chr18 44392443 44392443 T C rs117151539 PIAS2 Nonsynonymous SNV I608V 0.003 0 0 3 3 0 0.008 0 0 0 0 0 Benign 12.4 266927 chr17 4443017 4443017 G A rs779323941 MYBBP1A Nonsynonymous SNV T1227M 0 0 0 2 0 0 0.005 0 0 0 0 0 2.063 266928 chr17 4445082 4445082 G C rs138118665 MYBBP1A Synonymous SNV T1064T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.024 266929 chr7 22190106 22190106 C T RAPGEF5 Synonymous SNV Q298Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15 266930 chr17 4500503 4500503 G A rs34049978 SMTNL2 Nonsynonymous SNV D382N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 266931 chr17 4578403 4578403 G A rs762224366 PELP1 Synonymous SNV S415S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 266932 chr13 47354162 47354163 AC - ESD A171Ifs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 266933 chr7 55912312 55912312 T G SEPTIN14 Nonsynonymous SNV Q92P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 266934 chr7 63982437 63982437 T C rs768140495 ZNF680 Nonsynonymous SNV H232R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 266935 chr13 92002795 92002798 TATC - MIR17HG 0 0 0.003 0 0 0 0 1 0 0 0 0 266936 chr13 93142427 93142427 C T rs112416833 MIR548AS 0 0 0.007 0 0 0 0 2 0 0 0 0 0.017 266937 chr17 78086394 78086394 G A rs528010457 GAA Nonsynonymous SNV R591Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 266938 chr16 85689422 85689422 G A rs149441095 GSE1 Synonymous SNV A192A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.83 266939 chr7 77261687 77261687 A T PTPN12 Synonymous SNV S543S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.158 266940 chr14 102452936 102452936 T G rs752495590 DYNC1H1 Nonsynonymous SNV C792G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 266941 chr7 64864494 64864494 C T ZNF92 Synonymous SNV A413A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.87 266942 chr16 89702360 89702360 G A rs764229870 DPEP1 Nonsynonymous SNV R50Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.807 266943 chr14 102963944 102963944 C T rs562186436 TECPR2 Synonymous SNV T1323T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 266944 chr18 56246450 56246450 C T rs139025977 ALPK2 Nonsynonymous SNV V520M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 23.4 266945 chr14 103571374 103571374 C G rs765856203 EXOC3L4 Nonsynonymous SNV H477Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.39 266946 chr7 87774474 87774474 T C rs370077891 ADAM22 Nonsynonymous SNV I451T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 266947 chr14 104642045 104642045 G A KIF26A Nonsynonymous SNV D974N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.167 266948 chr14 105178852 105178852 G A rs201292830 INF2 Nonsynonymous SNV V858M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.1 266949 chr16 88870281 88870281 C A rs928805845 CDT1 Synonymous SNV R14R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.06 266950 chr7 96635373 96635373 - CAGCAA rs755753296 DLX6 Q44_P45insQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 266951 chr7 99725533 99725533 A C rs201045178 MBLAC1 Nonsynonymous SNV Q172P 0 0 0 1 0 0 0.003 0 0 0 0 0 23 266952 chr14 20767581 20767581 G T TTC5 Nonsynonymous SNV N141K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 266953 chr7 99758322 99758322 A T rs749777254 GAL3ST4 Nonsynonymous SNV H230Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 266954 chr7 100091478 100091478 C G rs576364914 NYAP1 Synonymous SNV T826T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.85 266955 chr17 6703445 6703445 G A rs138198972 TEKT1 Synonymous SNV D386D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.6 266956 chr7 99686631 99686631 G A rs576209115 COPS6 Synonymous SNV A6A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.29 266957 chr18 21424977 21424977 G A LAMA3 Nonsynonymous SNV R1203H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 266958 chr7 99998809 99998809 C T rs761591722 ZCWPW1 Nonsynonymous SNV G522R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.023 266959 chr14 23828659 23828659 C G EFS Nonsynonymous SNV R250P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 266960 chr18 24496802 24496802 G A rs755784547 CHST9 Synonymous SNV Y251Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.18 266961 chr7 100204099 100204099 C T rs147704294 PCOLCE Synonymous SNV T262T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.61 266962 chr7 100205261 100205261 G A rs146209978 PCOLCE Synonymous SNV V338V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.11 266963 chr7 100304780 100304780 T C POP7 Synonymous SNV D109D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.213 266964 chr14 24843603 24843603 G A rs148475720 NFATC4 Nonsynonymous SNV E602K 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 266965 chr19 10445409 10445409 C T rs767922533 ICAM3 Synonymous SNV G233G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.79 266966 chr17 18024352 18024352 G T rs79760961 MYO15A Nonsynonymous SNV R746S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 1.466 266967 chr17 18205910 18205910 C T rs150182250 TOP3A Synonymous SNV E114E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.69 266968 chr17 18218082 18218082 G A rs34739588 TOP3A Nonsynonymous SNV P4L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.29 266969 chr18 33552728 33552728 G C rs752289559 C18orf21 Nonsynonymous SNV G13R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.03 266970 chr14 50295386 50295386 G T rs376060040 NEMF Nonsynonymous SNV P458T 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 266971 chr19 13226150 13226150 C T rs201203784 TRMT1 Nonsynonymous SNV R195Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.68 266972 chr7 103844652 103844652 T C rs753668415 ORC5 Nonsynonymous SNV I35V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 266973 chr18 55319869 55319869 G A rs373707622 ATP8B1 Synonymous SNV S986S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.266 266974 chr19 14991887 14991887 T C rs142268144 OR7A17 Nonsynonymous SNV Y94C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.31 266975 chr7 128506683 128506683 A G ATP6V1FNB Nonsynonymous SNV K74E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.563 266976 chr7 100680654 100680654 C T rs536102720 MUC17 Nonsynonymous SNV P1986L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.957 266977 chr19 16038105 16038105 G A rs760671891 CYP4F11 Nonsynonymous SNV R148C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27 266978 chr18 61654468 61654468 A G rs763593946 SERPINB8 Nonsynonymous SNV K181E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 266979 chr17 3324813 3324813 C T rs137914247 OR3A3 Stop gain R318X 0.003 0 0 0 3 0 0 0 0 0 0 0 34 266980 chr19 16338501 16338501 C T rs772322734 AP1M1 Synonymous SNV H272H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.672 266981 chr14 68024013 68024013 C T rs536548660 PLEKHH1 Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 266982 chr14 68264874 68264874 C T rs201339450 ZFYVE26 Nonsynonymous SNV R702H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.243 266983 chr7 138223510 138223510 A G rs931154780 TRIM24 Nonsynonymous SNV S369G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 266984 chr14 70990093 70990093 G A rs376505523 ADAM20 Nonsynonymous SNV S461L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.3 266985 chr18 712357 712392 TACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCT - ENOSF1 S66_M76del 0.001 0 0 0 1 0 0 0 0 0 0 0 266986 chr18 712433 712433 A G rs562980921 ENOSF1 Nonsynonymous SNV M52T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.528 266987 chr14 71500710 71500710 C G PCNX1 Nonsynonymous SNV S1133C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 266988 chr18 712451 712451 A G rs548628838 ENOSF1 Nonsynonymous SNV M46T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 266989 chr18 712469 712469 A G rs552106431 ENOSF1 Nonsynonymous SNV M40T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 266990 chr18 712487 712487 A G rs537997746 ENOSF1 Nonsynonymous SNV M34T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.186 266991 chr18 712505 712505 A G rs201382707 ENOSF1 Nonsynonymous SNV M28T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.974 266992 chr17 36493534 36493534 C T rs200392643 GPR179 Nonsynonymous SNV G325R 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 23.7 266993 chr7 148963715 148963715 A C rs201372254 ZNF783 Nonsynonymous SNV E105A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 266994 chr7 149519689 149519689 G A rs202200061 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 7.952 266995 chr7 150269780 150269780 C T rs149764191 GIMAP4 Synonymous SNV L222L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.671 266996 chr14 81609403 81609403 T C rs553893026 TSHR Nonsynonymous SNV I334T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 266997 chr14 89291111 89291111 C T TTC8 Synonymous SNV F20F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 266998 chr14 91636418 91636418 A G rs148932665 DGLUCY Nonsynonymous SNV Y110C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.28 266999 chr19 19338462 19338462 A C rs115916487 NCAN Nonsynonymous SNV Y678S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.005 267000 chr17 39186011 39186011 C T KRTAP1-4 Nonsynonymous SNV C107Y 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 267001 chr19 20728510 20728510 G A rs191587895 ZNF737 Nonsynonymous SNV H167Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 267002 chr14 96757172 96757172 T C rs367685496 ATG2B Nonsynonymous SNV M1894V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 267003 chr7 142723985 142723985 T - rs773305699 OR9A2 Stop gain M79* 0.002 0 0 0 2 0 0 0 0 0 0 0 267004 chr7 142723986 142723986 G A rs780741050 OR9A2 Synonymous SNV P78P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.097 267005 chr15 101552238 101552238 C G LRRK1 Nonsynonymous SNV A436G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 267006 chr8 8860612 8860612 C T ERI1 Synonymous SNV A13A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.01 267007 chr19 14160032 14160032 G A rs367839117 IL27RA Synonymous SNV A436A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.354 267008 chr17 40043868 40043868 A G rs782598021 ACLY Nonsynonymous SNV I664T 0.003 0 0 0 3 0 0 0 0 0 0 0 32 267009 chr7 149559462 149559462 C T rs374767430 ZNF862 Synonymous SNV N1071N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 267010 chr8 10469878 10469878 G T rs371971690 RP1L1 Nonsynonymous SNV P577Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 267011 chr7 150878464 150878464 G A rs367585115 ASB10 Synonymous SNV A222A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.53 267012 chr19 3548259 3548259 C T rs377392933 MFSD12 Synonymous SNV A163A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.96 267013 chr19 15226116 15226116 C T rs752436537 ILVBL Nonsynonymous SNV V616I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.757 267014 chr19 15302446 15302446 C T rs138837495 NOTCH3 Synonymous SNV V275V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.48 267015 chr19 35842875 35842875 G T FFAR1 Nonsynonymous SNV V141F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 267016 chr19 3590105 3590105 G A rs138339125 GIPC3 Nonsynonymous SNV V286I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 267017 chr8 17872227 17872227 C T rs373892158 PCM1 Nonsynonymous SNV R1844C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 267018 chr7 158590645 158590645 G A rs202058630 ESYT2 Synonymous SNV D165D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.36 267019 chr19 1620989 1620989 C T TCF3 Synonymous SNV V357V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.6 267020 chr8 11174247 11174247 G A MTMR9 Synonymous SNV E393E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.61 267021 chr17 48594780 48594780 C T MYCBPAP Nonsynonymous SNV P111S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.391 267022 chr8 27399009 27399009 C T rs138452999 EPHX2 Stop gain R401X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 52 267023 chr18 72343483 72343483 C T rs753216016 ZNF407 Nonsynonymous SNV P170S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.638 267024 chr8 27509081 27509081 G A rs139063812 SCARA3 Nonsynonymous SNV V55M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 267025 chr15 52402025 52402025 C T rs774947628 BCL2L10 Synonymous SNV P235P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.851 267026 chr19 18561421 18561421 G A rs745557479 ELL Nonsynonymous SNV S444L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.494 267027 chr15 55647786 55647786 A G rs11732 DNAAF4-CCPG1 0 0 0.024 0 0 0 0 7 0 0 1 0 0.006 267028 chr8 13965705 13965705 G A rs145213189 SGCZ Nonsynonymous SNV P162L 0.001 0 0 0 1 0 0 0 0 0 0 0 28 267029 chr19 39421360 39421360 G A rs201988841 SARS2 Nonsynonymous SNV A6V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.352 267030 chr15 62165515 62165515 C T VPS13C Nonsynonymous SNV R3460K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 267031 chr15 62360051 62360051 G T rs376974409 C2CD4A Nonsynonymous SNV R80L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.047 267032 chr8 41348466 41348466 T C rs144266293 GOLGA7 Synonymous SNV P31P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.054 267033 chr17 57771174 57771174 G A rs144269102 CLTC Synonymous SNV P1667P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.945 267034 chr8 48641601 48641601 A G rs780170192 SPIDR Nonsynonymous SNV K353E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 267035 chr15 64381033 64381033 G A rs147426625 CIAO2A Nonsynonymous SNV R48W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 267036 chr19 41242916 41242916 A C rs771918092 ITPKC Nonsynonymous SNV N567T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 267037 chr15 65945071 65945071 T C rs569544271 SLC24A1 Nonsynonymous SNV I319T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 267038 chr17 61497527 61497527 C T TANC2 Nonsynonymous SNV A1395V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.74 267039 chr19 3002438 3002438 C T rs763599699 TLE2 Nonsynonymous SNV V532M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 267040 chr17 62018514 62018514 G A rs762735966 SCN4A Nonsynonymous SNV P1710S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 267041 chr8 71646182 71646182 G - XKR9 W216Gfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 267042 chr8 71646187 71646187 T A XKR9 Nonsynonymous SNV M217K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 267043 chr8 86389490 86389490 G A rs539558180 CA2 Nonsynonymous SNV V116I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.5 267044 chr3 56649159 56649159 A G rs745960305 CCDC66 Nonsynonymous SNV I491V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.488 267045 chr15 75932493 75932493 T C IMP3 Nonsynonymous SNV K6R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 267046 chr8 38834098 38834098 G C HTRA4 Nonsynonymous SNV G204A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 267047 chr19 36045929 36045929 G A rs150844981 ATP4A Synonymous SNV T792T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.435 267048 chr15 78474907 78474907 G A rs181992530 ACSBG1 Synonymous SNV D261D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.37 267049 chr8 56663553 56663553 G A TMEM68 Synonymous SNV G105G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.41 267050 chr8 59510086 59510086 A G NSMAF Nonsynonymous SNV V582A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 267051 chr15 84592783 84592783 C T rs112871476 ADAMTSL3 Synonymous SNV P705P 0 0 0.01 0 0 0 0 3 0 0 0 0 17.15 267052 chr8 117767973 117767973 C A rs927267571 EIF3H Nonsynonymous SNV A22S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.871 267053 chr8 68026074 68026074 G C CSPP1 Nonsynonymous SNV G123R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.6 267054 chr17 72285774 72285774 G A DNAI2 Stop gain W170X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 267055 chr15 85383892 85383892 G A rs34409363 ALPK3 Nonsynonymous SNV G663D 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 10.53 267056 chr15 85400117 85400117 G A rs748048844 ALPK3 Synonymous SNV A918A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.938 267057 chr15 86076939 86076939 C T rs143928624 AKAP13 Synonymous SNV F102F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 267058 chr8 124658193 124658193 C A rs201599108 KLHL38 Nonsynonymous SNV R511M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.6 267059 chr19 46202143 46202143 C T rs199625613 QPCTL Nonsynonymous SNV R197W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 267060 chr19 38912744 38912744 G A rs776089203 RASGRP4 Nonsynonymous SNV R25C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 267061 chr19 47259343 47259343 G A rs370099812 FKRP Synonymous SNV A212A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 0.036 267062 chr8 139895402 139895402 C T rs145001106 COL22A1 Nonsynonymous SNV R5Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.9 267063 chr19 39904825 39904830 GACTCG - PLEKHG2 R35_T36del 0.001 0 0 0 1 0 0 0 0 0 0 0 267064 chr8 99761546 99761546 G A rs373807046 STK3 Synonymous SNV G103G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.84 267065 chr8 99961089 99961089 C T rs767390656 OSR2 Nonsynonymous SNV S91F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.12 267066 chr19 39914117 39914117 C T rs1023138821 PLEKHG2 Nonsynonymous SNV P749L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 267067 chr8 105025770 105025770 C T rs768011071 RIMS2 Nonsynonymous SNV R888C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 267068 chr16 1035095 1035095 C T SOX8 Synonymous SNV D350D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.9 267069 chr16 1115733 1115733 T A SSTR5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.354 267070 chr16 1143583 1143583 C T rs766757696 C1QTNF8 Nonsynonymous SNV R226Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.445 267071 chr17 7559103 7559103 G A rs754719418 ATP1B2 Nonsynonymous SNV V173M 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 267072 chr17 76113912 76113912 G A rs369452848 TMC6 Synonymous SNV A664A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.6 267073 chr19 42703618 42703618 C A rs149179344 DEDD2 Nonsynonymous SNV G318V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 267074 chr8 144993022 144993022 C T rs370136466 PLEC Nonsynonymous SNV R3642Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 267075 chr19 51135644 51135644 C A rs148772753 SYT3 Nonsynonymous SNV E191D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.84 267076 chr19 33450920 33450920 C A rs116019599 CEP89 Nonsynonymous SNV R64L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 267077 chr16 2042650 2042650 C A rs140958780 SYNGR3 Nonsynonymous SNV F117L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 267078 chr17 79093199 79093199 C T rs775875316 AATK Synonymous SNV S1252S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.26 267079 chr9 2729470 2729470 G A rs149648640 KCNV2 Nonsynonymous SNV G461R 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 34 267080 chr9 4719172 4719172 C T rs781232483 AK3 Nonsynonymous SNV R96Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 267081 chr19 35790644 35790644 G A rs3746249 MAG Synonymous SNV L176L 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 6.058 267082 chr19 35790645 35790645 C A rs11084810 MAG Nonsynonymous SNV L177M 0 0.003 0.007 4 0 1 0.01 2 0 0 0 0 24 267083 chr16 2489456 2489456 G C rs140493876 CCNF Nonsynonymous SNV D233H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 267084 chr16 25258225 25258225 C T rs143300766 ZKSCAN2 Nonsynonymous SNV R431H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 267085 chr16 27301603 27301603 T C rs77340721 NSMCE1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.227 267086 chr9 19119821 19119821 C T rs771266009 PLIN2 Nonsynonymous SNV A202T 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 267087 chr16 29676095 29676095 G A rs574440536 SPN Nonsynonymous SNV R349Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 267088 chr16 30196593 30196593 C A rs771491737 CORO1A Synonymous SNV A21A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.73 267089 chr8 145649442 145649442 C T rs782808890 VPS28 Nonsynonymous SNV R177H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 267090 chr16 30535880 30535880 G A rs778471337 ZNF768 Synonymous SNV D527D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.009 267091 chr8 145773395 145773395 G A ARHGAP39 Nonsynonymous SNV P359S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 267092 chr18 10759645 10759645 G A rs545092108 MIR6788 0.003 0 0 0 3 0 0 0 0 0 0 0 5.289 267093 chr19 53618512 53618512 C T ZNF415 Synonymous SNV P41P 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.116 267094 chr9 35847096 35847096 C T rs773924693 TMEM8B Nonsynonymous SNV P760L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.6 267095 chr9 35906565 35906565 - CCACACCCCTCACCACCTCCACCACCACCACCACCACCACCGCCACCCCCA HRCT1 H105_P106insHHRHPHHTPHHLHHHHH 0 0 0 1 0 0 0.003 0 0 0 0 0 267096 chr19 48814825 48814825 G A rs190978775 CCDC114 Synonymous SNV D157D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.884 267097 chr19 48836655 48836655 A T rs755134296 TMEM143 Nonsynonymous SNV W301R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 267098 chr19 48978145 48978145 C T rs780533607 CYTH2 Synonymous SNV D249D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 267099 chr9 5906907 5906907 C G MLANA Nonsynonymous SNV T66S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.016 267100 chr19 49102605 49102610 CCAGCC - rs16989366 SULT2B1 S337_P338del 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 267101 chr19 49575294 49575294 G C rs536830816 KCNA7 Synonymous SNV A183A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.427 267102 chr18 32843968 32843968 C T ZSCAN30 Nonsynonymous SNV E117K 0.003 0 0 0 3 0 0 0 0 0 0 0 33 267103 chr9 35044637 35044637 G A rs115115421 C9orf131 Nonsynonymous SNV G636R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.168 267104 chr16 52473780 52473780 G A TOX3 Nonsynonymous SNV S363F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 267105 chr9 94794758 94794758 C T rs141292904 SPTLC1 Nonsynonymous SNV R460H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign/Likely benign 18.97 267106 chr9 94874768 94874768 T C SPTLC1 Nonsynonymous SNV K45R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.34 267107 chr9 95009709 95009709 G A rs77245714 IARS1 Nonsynonymous SNV T886M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 22.3 267108 chr9 38396867 38396867 C T rs1045894795 ALDH1B1 Synonymous SNV I374I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.05 267109 chr9 98231429 98231429 G A rs62637628 PTCH1 Synonymous SNV C566C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.066 267110 chr9 72459519 72459519 G A rs147780802 C9orf135 Nonsynonymous SNV R80Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.3 267111 chr9 35662990 35662990 C T rs147148814 ARHGEF39 Nonsynonymous SNV R209H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 267112 chr16 57931428 57931428 C T rs148999583 CNGB1 Nonsynonymous SNV G1033R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 267113 chr9 74360419 74360419 A G rs746884544 CEMIP2 Synonymous SNV D183D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.257 267114 chr16 61747818 61747818 G A rs374744513 CDH8 Synonymous SNV N527N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.544 267115 chr19 56952786 56952786 T C rs148122657 ZNF667 Synonymous SNV P526P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.039 267116 chr16 67199882 67199882 C T rs769736356 HSF4 Nonsynonymous SNV R132C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.4 267117 chr16 68405560 68405560 G T SMPD3 Synonymous SNV T175T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.228 267118 chr16 70305852 70305852 G A rs763378637 AARS Nonsynonymous SNV P168L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 267119 chr9 111668710 111668710 G A rs767487606 ELP1 Nonsynonymous SNV L157F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.37 267120 chr19 58084625 58084625 T C ZNF416 Nonsynonymous SNV K144R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.117 267121 chr9 96439216 96439216 C T rs35236745 PHF2 Nonsynonymous SNV S1058L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 267122 chr16 721780 721780 A G rs117821265 RHOT2 Nonsynonymous SNV Q267R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.512 267123 chr9 115626573 115626573 A G SNX30 Nonsynonymous SNV N383S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 267124 chr16 72830408 72830408 G A rs376916223 ZFHX3 Nonsynonymous SNV P1144L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.4 267125 chr19 6714091 6714091 G A C3 Synonymous SNV L229L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.59 267126 chr9 123907181 123907181 C G rs200500136 CNTRL Nonsynonymous SNV R486G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 267127 chr9 112153771 112153771 C T rs763280816 PTPN3 Nonsynonymous SNV R343Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 267128 chr16 839668 839668 C T rs199955523 CHTF18 Nonsynonymous SNV R187W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 267129 chr9 125424374 125424374 G A OR1L1 Nonsynonymous SNV C127Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.64 267130 chr19 830768 830768 G A rs28664760 AZU1 Nonsynonymous SNV A141T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 5.366 267131 chr9 125782705 125782705 C G rs201053287 RABGAP1 Nonsynonymous SNV H587Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.25 267132 chr16 88599963 88599963 C A rs372082316 ZFPM1 Nonsynonymous SNV P533T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 267133 chr9 131396626 131396626 G A rs775749607 WDR34 Synonymous SNV V417V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 267134 chr4 44626623 44626623 T C rs909915100 YIPF7 Synonymous SNV S225S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.067 267135 chr9 116155811 116155811 C G rs199655229 ALAD Nonsynonymous SNV G10A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 267136 chr9 116346115 116346115 C A rs144636307 RGS3 Nonsynonymous SNV T129N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 267137 chr19 12800062 12800062 G A rs144389707 FBXW9 Synonymous SNV L449L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.306 267138 chr19 12902857 12902857 T C rs372072460 JUNB Nonsynonymous SNV I91T 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 267139 chr9 127620293 127620293 G A rs142837462 RPL35 Synonymous SNV R92R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.22 267140 chr9 136029418 136029418 C T rs150021604 GBGT1 Nonsynonymous SNV R180Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.606 267141 chr17 13504308 13504308 G C rs531898359 HS3ST3A1 Nonsynonymous SNV Q47E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 267142 chr19 966675 966675 C T rs370671726 ARID3A Synonymous SNV A434A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.3 267143 chr9 125437872 125437872 A T rs112274623 OR1L3 Nonsynonymous SNV H155L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 267144 chr9 125512960 125512960 G A rs144649416 OR1L6 Nonsynonymous SNV M278I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.66 267145 chr9 136513090 136513090 G A rs200281127 DBH Nonsynonymous SNV A383T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.834 267146 chr17 17924443 17924445 CTC - rs747228564 ATPAF2 E242del 0 0 0.003 0 0 0 0 1 0 0 0 0 267147 chr9 138903580 138903580 C T NACC2 Nonsynonymous SNV V516I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.373 267148 chr9 139090778 139090778 C G rs759590430 LHX3 Synonymous SNV T183T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.16 267149 chr9 132642460 132642460 G A rs202062563 USP20 Nonsynonymous SNV E885K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 267150 chr17 19685219 19685219 C A ULK2 Nonsynonymous SNV Q874H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 267151 chr19 643539 643539 C T rs748495939 FGF22 Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 267152 chr9 133779550 133779550 G C FIBCD1 Synonymous SNV A429A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.487 267153 chr9 139564092 139564092 G A EGFL7 Nonsynonymous SNV G78R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 267154 chr19 16436345 16436345 G C KLF2 Nonsynonymous SNV G132R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 267155 chr9 139912269 139912269 G A ABCA2 Synonymous SNV I727I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.49 267156 chr19 7693150 7693150 A G XAB2 Nonsynonymous SNV M29T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 267157 chr1 112270184 112270184 G A rs755902727 INKA2 Synonymous SNV G100G 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 1.402 267158 chr9 140318131 140318131 G A NOXA1 Synonymous SNV L50L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 267159 chr9 140991061 140991061 G A rs200577607 CACNA1B Synonymous SNV A1740A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 267160 chr17 26900837 26900837 G C rs145405642 ALDOC Synonymous SNV A305A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.422 267161 chr19 8196587 8196587 G A rs139856335 FBN3 Nonsynonymous SNV T614I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 267162 chr19 17886795 17886795 C A rs370902924 FCHO1 Nonsynonymous SNV T286K 0.003 0 0 0 3 0 0 0 0 0 0 0 5.462 267163 chr17 30469471 30469488 CCGCCGCCGCCGCCGCCG - rs760466239 LOC105371730 0 0 0.003 0 0 0 0 1 0 0 0 0 267164 chr19 18709293 18709293 G A rs556029569 CRLF1 Nonsynonymous SNV R216C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 267165 chr10 5963463 5963463 C T rs781327813 FBH1 Synonymous SNV N677N 0 0 0 1 0 0 0.003 0 0 0 0 0 14.92 267166 chr1 12408891 12408891 C A rs140334447 VPS13D Synonymous SNV L3002L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.42 267167 chr17 33881907 33881907 C G rs2977 LOC107985033 0 0 0.054 0 0 0 0 16 0 0 8 0 3.527 267168 chr17 35872923 35872923 C A DUSP14 Nonsynonymous SNV D183E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 267169 chr10 17061850 17061850 T C CUBN Nonsynonymous SNV M1384V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 267170 chr1 151107658 151107658 G A rs370815350 SEMA6C Nonsynonymous SNV R481W 0.001 0.005 0 0 1 2 0 0 0 0 0 0 33 267171 chr10 17279241 17279241 A G rs747701399 VIM Nonsynonymous SNV T458A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.1 267172 chr19 24310215 24310215 T C rs759380198 ZNF254 Synonymous SNV F386F 0.003 0 0 0 3 0 0 0 0 0 0 0 1.585 267173 chr1 151679660 151679660 G A rs141982710 CELF3 Nonsynonymous SNV P248S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.31 267174 chr19 3186166 3186166 C T rs150281427 NCLN Synonymous SNV F46F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.12 267175 chr17 38950184 38950184 C T rs144664854 KRT28 Nonsynonymous SNV E365K 0 0 0.007 0 0 0 0 2 0 0 0 0 26.5 267176 chr19 33183449 33183449 C T NUDT19 Nonsynonymous SNV H195Y 0.003 0 0 0 3 0 0 0 0 0 0 0 19.37 267177 chr10 11912236 11912236 G A PROSER2 Nonsynonymous SNV R380H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.07 267178 chr10 1068692 1068692 C T rs746906105 IDI2 Nonsynonymous SNV V56I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 267179 chr10 13789765 13789765 G A rs144843444 FRMD4A Synonymous SNV A189A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.74 267180 chr10 29752557 29752557 G A rs144352488 SVIL Synonymous SNV F1621F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.21 267181 chr1 154942823 154942823 G A rs111554682 SHC1 Synonymous SNV S60S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.58 267182 chr1 155019711 155019711 T C rs138911736 DCST1 Nonsynonymous SNV M487T 0.002 0.005 0 0 2 2 0 0 0 0 0 0 24.7 267183 chr10 22605397 22605397 C T rs746195912 COMMD3, COMMD3-BMI1 Synonymous SNV P17P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.65 267184 chr17 39998122 39998122 A T rs36065902 KLHL10 Nonsynonymous SNV N81I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 19.23 267185 chr17 40003582 40003582 A C KLHL10 Nonsynonymous SNV N370H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 267186 chr1 114133198 114133198 A G rs145176805 MAGI3 Nonsynonymous SNV M286V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.251 267187 chr19 37644136 37644136 C T ZNF585A Nonsynonymous SNV G222D 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 267188 chr10 29811476 29811476 C A SVIL Nonsynonymous SNV K658N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.76 267189 chr1 117948263 117948263 A G MAN1A2 Nonsynonymous SNV I217M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 267190 chr17 46805648 46805648 G A rs760196832 HOXB13 Nonsynonymous SNV A103V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 267191 chr19 39949468 39949468 C T rs140519829 SUPT5H Synonymous SNV I106I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.52 267192 chr1 1387769 1387769 A G rs567033403 ATAD3C Synonymous SNV E59E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.595 267193 chr10 72358443 72358443 G T rs28933374 PRF1 Nonsynonymous SNV P345H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 267194 chr19 41711950 41711950 C T rs770773273 CYP2S1 Synonymous SNV L418L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.14 267195 chr19 41822309 41822309 G - rs759534947 CCDC97 H24Tfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 267196 chr17 55187460 55187460 C G AKAP1 Nonsynonymous SNV Q597E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 267197 chr19 42399456 42399456 C T rs782392629 ARHGEF1 Synonymous SNV G271G 0.003 0 0 0 3 0 0 0 0 0 0 0 15.12 267198 chr19 42855812 42855812 G A rs755602869 MEGF8 Synonymous SNV E933E 0.003 0 0 0 3 0 0 0 0 0 0 0 10.44 267199 chr17 59489755 59489755 C T rs770601256 C17orf82 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 267200 chr1 152882983 152883012 AGCAGCAGGAGGGGCAGCTGGAGCTCTCTG - IVL E254_L263del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 267201 chr19 47615768 47615782 GATGGCGGCGGCGGC - rs764478571 ZC3H4 P21_S25del 0.001 0 0 0 1 0 0 0 0 0 0 0 267202 chr17 61611627 61611627 C T rs747310071 KCNH6 Synonymous SNV A352A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.7 267203 chr17 61780974 61780974 G A rs758494527 STRADA Synonymous SNV D390D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.569 267204 chr17 62530763 62530763 C T rs201158989 CEP95 Stop gain R496X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 267205 chr10 89653834 89653834 C T rs150651961 PTEN Synonymous SNV G44G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 18.21 267206 chr17 65907936 65907936 T C rs147125121 BPTF Synonymous SNV N1312N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.015 267207 chr1 174517001 174517001 G A rs541353580 RABGAP1L Synonymous SNV P542P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.388 267208 chr5 43675752 43675752 A G rs573026709 NNT Nonsynonymous SNV N794S 0 0.008 0 0 0 3 0 0 0 1 0 0 15.32 267209 chr5 43702744 43702744 T C rs1047240336 NNT Nonsynonymous SNV I875T 0 0.005 0 0 0 2 0 0 0 0 0 0 27.9 267210 chr19 44934126 44934126 T A rs374653789 ZNF229 Nonsynonymous SNV D271V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.082 267211 chr1 1562268 1562268 C T rs372371160 MIB2 Nonsynonymous SNV R427C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.5 267212 chr10 97715236 97715236 A G rs779176124 CC2D2B Nonsynonymous SNV Y366C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 267213 chr10 99153488 99153488 C T rs200665625 RRP12 Synonymous SNV P161P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.7 267214 chr10 84745200 84745200 G A NRG3 Nonsynonymous SNV A644T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 267215 chr17 73498975 73498975 G C rs140847529 CASKIN2 Nonsynonymous SNV P645R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.019 267216 chr19 46275108 46275108 G A rs188834458 DMPK Synonymous SNV L386L 0.003 0 0 0 3 0 0 0 0 0 0 0 17.55 267217 chr10 102795785 102795785 C T rs144600251 SFXN3 Stop gain Q124X 0 0.003 0 1 0 1 0.003 0 0 0 0 0 39 267218 chr10 105238743 105238743 T G CALHM3 Nonsynonymous SNV E16A 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 267219 chr1 160769757 160769757 T C LY9 Synonymous SNV S113S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 267220 chr19 48048750 48048750 C T ZNF541 Nonsynonymous SNV A346T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.5 267221 chr10 106401566 106401566 G A rs756722144 SORCS3 Nonsynonymous SNV A161T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.223 267222 chr17 76157186 76157186 T C C17orf99 Nonsynonymous SNV V74A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.941 267223 chr1 200008802 200008802 C T rs373989335 NR5A2 Synonymous SNV D27D 0.002 0.005 0.003 1 2 2 0.003 1 0 0 0 0 Likely benign 14.24 267224 chr17 76481172 76481172 G A DNAH17-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.577 267225 chr10 124221585 124221585 C G rs755925985 HTRA1 Synonymous SNV S139S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.14 267226 chr17 78073395 78073395 G A rs546314844 CCDC40 Nonsynonymous SNV V1084M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 267227 chr17 78084592 78084592 A G rs376067362 GAA Nonsynonymous SNV M502V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 11.59 267228 chr5 112178706 112178706 C T rs200399245 APC Nonsynonymous SNV A2454V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.58 267229 chr5 112769661 112769661 C T rs200640468 TSSK1B Synonymous SNV R292R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.167 267230 chr10 126370622 126370622 G A rs748353565 FAM53B Nonsynonymous SNV R154C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 267231 chr10 128850993 128850993 G A DOCK1 Synonymous SNV P750P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 267232 chr10 129905849 129905849 G A MKI67 Nonsynonymous SNV H1059Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.639 267233 chr17 79682512 79682512 C A rs1055159880 SLC25A10 Nonsynonymous SNV T73N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 267234 chr10 135044509 135044509 G C UTF1 Nonsynonymous SNV D197H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.98 267235 chr10 118423486 118423486 C T rs567115188 C10orf82 Synonymous SNV R212R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.572 267236 chr19 5210725 5210725 C T rs116345982 PTPRS Nonsynonymous SNV V1329M 0.003 0 0 0 3 0 0 0 0 0 0 0 34 267237 chr10 135170215 135170215 C T rs574134371 FUOM Nonsynonymous SNV D62N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 267238 chr18 13731640 13731640 G C RNMT Nonsynonymous SNV G42R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 267239 chr1 159907592 159907592 A G rs764039098 IGSF9 Nonsynonymous SNV I95T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 267240 chr10 131641604 131641604 G A rs761507461 MIR4297 0.001 0 0 0 1 0 0 0 0 0 0 0 6.199 267241 chr18 28666574 28666574 C T rs145560678 DSC2 Nonsynonymous SNV V303M 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 267242 chr19 57723231 57723231 G C ZNF264 Nonsynonymous SNV E256Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 267243 chr19 53770879 53770879 G A rs149220755 VN1R4 Stop gain Q14X 0.002 0 0 0 2 0 0 0 0 0 0 0 25 267244 chr18 29793100 29793100 A G rs113156575 MEP1B Nonsynonymous SNV Q386R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 267245 chr1 19634685 19634685 C G AKR7A2 Nonsynonymous SNV K186N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 267246 chr18 33069348 33069348 G A rs149607379 INO80C Nonsynonymous SNV T53M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 267247 chr1 165623517 165623517 G A rs764623433 MGST3 Nonsynonymous SNV R84H 0 0 0 1 0 0 0.003 0 0 0 0 0 29 267248 chr18 43459147 43459147 A G rs34545102 EPG5 Synonymous SNV F1900F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.085 267249 chr18 48723309 48723309 C T rs375480813 MEX3C Nonsynonymous SNV E128K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 267250 chr1 175299264 175299264 C T rs762377945 TNR Nonsynonymous SNV E914K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 267251 chr1 204380464 204380464 G A rs12094135 PPP1R15B Nonsynonymous SNV P26S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.009 267252 chr5 168098270 168098270 C T rs773007863 SLIT3 Nonsynonymous SNV E1361K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 267253 chr1 20828660 20828660 T A rs148282417 MUL1 Nonsynonymous SNV E77D 0.002 0 0 0 2 0 0 0 0 0 0 0 19.43 267254 chr18 6993725 6993725 T C rs141321442 LAMA1 Synonymous SNV Q1641Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 267255 chr1 209605636 209605636 - AGCAGC rs565985624 MIR205HG 0.001 0 0 1 1 0 0.003 0 0 0 0 0 267256 chr1 20977125 20977125 G T rs780865659 PINK1 Stop gain E563X 0.002 0 0 0 2 0 0 0 0 0 0 0 47 267257 chr18 72346751 72346751 C T rs34048449 ZNF407 Nonsynonymous SNV S1259L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.24 267258 chr11 2790114 2790114 C T rs199472787 KCNQ1 Nonsynonymous SNV R519C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 267259 chr18 74962999 74962999 C A rs138670052 GALR1 Synonymous SNV A165A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.69 267260 chr11 4144467 4144467 T C RRM1 Synonymous SNV Y53Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.381 267261 chr5 176863247 176863247 C T rs146135301 GRK6 Nonsynonymous SNV R201C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.3 267262 chr1 21551788 21551788 C A rs756122237 ECE1 Synonymous SNV L653L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.81 267263 chr19 1077898 1077898 G A ARHGAP45 Nonsynonymous SNV V45M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 267264 chr19 10798239 10798239 C T ILF3 Synonymous SNV Y759Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 267265 chr1 39757644 39757644 A C rs754044875 MACF1 Synonymous SNV T621T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.12 267266 chr19 813644 813644 C T rs769339066 PLPPR3 Synonymous SNV P389P 0.003 0 0 0 4 0 0 0 0 0 0 0 11.47 267267 chr11 6048917 6048917 C T rs149441949 OR56A1 Synonymous SNV A6A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.53 267268 chr1 44437944 44437944 A T DPH2 Nonsynonymous SNV D200V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.378 267269 chr1 231362811 231362811 G A rs147296791 C1orf131 Nonsynonymous SNV R171C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 267270 chr19 17836969 17836969 A G rs116083435 MAP1S Nonsynonymous SNV N233S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 267271 chr19 9072907 9072907 T C rs771010272 MUC16 Nonsynonymous SNV T4847A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.021 267272 chr19 9076846 9076846 G A MUC16 Nonsynonymous SNV P3534S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.026 267273 chr19 17937657 17937657 G A rs376220660 JAK3 Synonymous SNV A1090A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 267274 chr11 7437322 7437322 C T rs759505535 SYT9 Nonsynonymous SNV T365M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 267275 chr19 918590 918590 C T rs150594098 KISS1R Synonymous SNV P97P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 12.23 267276 chr11 9749669 9749669 A G SWAP70 Nonsynonymous SNV I180V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.447 267277 chr19 2251284 2251284 G A AMH Synonymous SNV E337E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.983 267278 chr19 33116842 33116842 C G rs780814458 ANKRD27 Nonsynonymous SNV E523Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 267279 chr19 33600736 33600736 C T GPATCH1 Stop gain Q467X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 267280 chr1 111964004 111964004 G T OVGP1 Nonsynonymous SNV T266N 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 267281 chr19 35250833 35250833 T A ZNF599 Synonymous SNV A291A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 267282 chr19 35563834 35563834 A G rs2607234 HPN-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.39 267283 chr19 35993069 35993069 G A rs147919175 DMKN Nonsynonymous SNV T99I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 267284 chr1 117484697 117484697 A G PTGFRN Nonsynonymous SNV Q137R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 267285 chr1 22927274 22927274 C T rs201817606 EPHA8 Nonsynonymous SNV R837W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 267286 chr1 22965616 22965616 G A rs201517118 C1QA Nonsynonymous SNV V152I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.083 267287 chr11 33620408 33620408 A G rs202098905 KIAA1549L Synonymous SNV S1598S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.008 267288 chr11 15222382 15222382 G A rs61745926 INSC Nonsynonymous SNV V236I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.7 267289 chr11 34527246 34527246 G A rs545505897 ELF5 Synonymous SNV C17C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.776 267290 chr19 37240284 37240284 G A rs917047428 ZNF850 Nonsynonymous SNV A521V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 267291 chr1 12337594 12337594 A G VPS13D Nonsynonymous SNV M1317V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 267292 chr19 38886642 38886642 G A SPRED3 Nonsynonymous SNV A364T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 267293 chr19 38903851 38903851 A G rs750924146 RASGRP4 Synonymous SNV H277H 0 0 0.01 0 0 0 0 3 0 0 0 0 0.012 267294 chr1 29587130 29587130 A G rs148349447 PTPRU Nonsynonymous SNV T287A 0.003 0 0 0 3 0 0 0 0 0 0 0 19.52 267295 chr19 39006796 39006796 G A RYR1 Synonymous SNV P3208P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.537 267296 chr11 47346089 47346089 G C rs752698504 MADD Synonymous SNV V1458V 0.003 0 0 2 3 0 0.005 0 0 0 0 0 11.41 267297 chr19 39398281 39398281 C T rs372112776 NFKBIB Synonymous SNV S231S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.29 267298 chr19 39522594 39522594 G C rs199702227 FBXO27 Nonsynonymous SNV P92A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 267299 chr11 47711880 47711880 C A rs990201929 AGBL2 Nonsynonymous SNV R460I 0.003 0 0 2 3 0 0.005 0 0 0 0 0 33 267300 chr6 83828617 83828617 C T rs144303120 DOP1A Nonsynonymous SNV P264L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 267301 chr19 40276663 40276663 T G rs750419185 LEUTX Nonsynonymous SNV I132R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 267302 chr11 27379026 27379026 C T rs138159804 CCDC34 Nonsynonymous SNV R141H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 267303 chr19 40581327 40581327 G A rs576021151 ZNF780A Nonsynonymous SNV A341V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.8 267304 chr19 4110518 4110518 T G MAP2K2 Nonsynonymous SNV M147L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 267305 chr11 34107688 34107688 T A CAPRIN1 Synonymous SNV A348A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.031 267306 chr1 41481683 41481683 C T rs41308246 SLFNL1-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.065 267307 chr19 44117656 44117656 T C rs771719204 SRRM5 Synonymous SNV H461H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 267308 chr19 44471126 44471126 C T rs576730468 ZNF221 Nonsynonymous SNV S491F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 267309 chr6 109980446 109980454 CTCTTCTTC - rs779922129 AK9 E203_E205del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 267310 chr1 158325710 158325710 T C CD1E Nonsynonymous SNV V51A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 267311 chr1 33960890 33960890 G A rs751570008 ZSCAN20 Synonymous SNV T982T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.196 267312 chr19 47127336 47127336 G A rs577122089 PTGIR Synonymous SNV F49F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.595 267313 chr11 56127932 56127932 T C rs142273526 OR8J1 Synonymous SNV N70N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 267314 chr1 166973510 166973510 A T rs140068242 MAEL Nonsynonymous SNV N175I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.8 267315 chr1 67559171 67559171 A T C1orf141 Nonsynonymous SNV H240Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 267316 chr19 50864934 50864934 C T rs749905064 NAPSA Nonsynonymous SNV E152K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 267317 chr1 78098152 78098152 A G rs373827735 ZZZ3 Synonymous SNV T296T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 267318 chr1 196973868 196973868 C T CFHR5 Nonsynonymous SNV P470S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 267319 chr11 57081244 57081244 C T rs374820177 TNKS1BP1 Synonymous SNV P306P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.66 267320 chr11 60264895 60264895 G A rs775981038 MS4A12 Nonsynonymous SNV G35D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 267321 chr6 170871052 170871052 - CAGCAG TBP Q75_A76insQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 267322 chr11 58919932 58919932 T G FAM111A Nonsynonymous SNV F264C 0.003 0 0 0 3 0 0 0 0 0 0 0 29.1 267323 chr11 62594629 62594629 G T rs772901996 STX5 Nonsynonymous SNV Q141K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 267324 chr20 37214737 37214737 T G rs772717586 ADIG Nonsynonymous SNV F64V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.091 267325 chr11 62396423 62396423 C G rs767196703 GANAB Nonsynonymous SNV M552I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 267326 chr11 61077797 61077797 G A rs527507882 DDB1 Synonymous SNV L791L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.37 267327 chr11 64566894 64566894 G A rs376731911 MAP4K2 Nonsynonymous SNV P351L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 267328 chr1 19212005 19212005 G A rs942019101 ALDH4A1 Nonsynonymous SNV R79C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 267329 chr11 64677324 64677324 G A rs138851076 ATG2A Nonsynonymous SNV R646C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 267330 chr11 62288806 62288806 G A rs142600667 AHNAK Synonymous SNV I4361I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.05 267331 chr19 5561099 5561099 G A rs537150457 TINCR 0 0 0.003 0 0 0 0 1 0 0 0 0 3.799 267332 chr11 64889047 64889047 C G FAU Nonsynonymous SNV E49Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 267333 chr11 62554907 62554907 G A rs374217510 TMEM179B Nonsynonymous SNV A2T 0.003 0 0 0 3 0 0 0 0 0 0 0 27.3 267334 chr11 64679690 64679690 C G rs756559942 ATG2A Nonsynonymous SNV K318N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 267335 chr11 63532440 63532440 G A C11orf95 Synonymous SNV H308H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.94 267336 chr7 21948038 21948038 T C CDCA7L Nonsynonymous SNV R85G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 267337 chr20 23065733 23065733 C T rs142218043 CD93 Nonsynonymous SNV R366H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.946 267338 chr11 66333594 66333594 C G CTSF Nonsynonymous SNV E256Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.051 267339 chr11 64856139 64856139 G A rs200615753 TMEM262 Synonymous SNV S86S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.25 267340 chr11 66638300 66638300 G T PC Nonsynonymous SNV L233M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.069 267341 chr11 66743666 66743666 G C C11orf86 Nonsynonymous SNV E98Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.408 267342 chr11 65389747 65389747 G A rs748960134 PCNX3 Nonsynonymous SNV R756Q 0.003 0 0 0 4 0 0 0 0 0 0 0 23.3 267343 chr20 30418828 30418828 C T rs369603764 MYLK2 Synonymous SNV N436N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 11.1 267344 chr11 67396431 67396431 C T rs199685467 NUDT8 Nonsynonymous SNV E96K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.07 267345 chr11 66062546 66062546 C T rs139685357 TMEM151A Nonsynonymous SNV R277C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 267346 chr11 66975081 66975081 G A rs200660924 KDM2A Synonymous SNV E136E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.58 267347 chr11 69458757 69458757 C G CCND1 Nonsynonymous SNV T191R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 267348 chr19 58864770 58864770 C T rs764426942 A1BG Nonsynonymous SNV G12S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 267349 chr19 58864813 58864813 G C rs368025863 A1BG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.2 267350 chr19 603957 603957 A T HCN2 Nonsynonymous SNV Q349L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 267351 chr19 603963 603963 A T HCN2 Nonsynonymous SNV E351V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 267352 chr20 33874600 33874600 C T rs78127944 FAM83C Nonsynonymous SNV R661H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.909 267353 chr19 603966 603966 A T HCN2 Nonsynonymous SNV E352V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 267354 chr11 74563125 74563125 G A rs768932777 XRRA1 Synonymous SNV I108I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.813 267355 chr11 77301286 77301288 CTT - rs747275160 AQP11 F85del 0 0 0 1 0 0 0.003 0 0 0 0 0 267356 chr11 74651896 74651896 C T rs558916942 XRRA1 Nonsynonymous SNV D10N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 267357 chr19 8200860 8200860 C T rs115112939 FBN3 Nonsynonymous SNV G526S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 267358 chr11 82966926 82966926 C A ANKRD42 Synonymous SNV G501G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.91 267359 chr21 28327146 28327146 G A ADAMTS5 Synonymous SNV D383D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 12.47 267360 chr20 48600443 48600443 G A rs141611392 SNAI1 Synonymous SNV S55S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.961 267361 chr20 25657379 25657379 C T rs948655313 ZNF337 Nonsynonymous SNV C182Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 267362 chr11 94823342 94823342 - GCGCCCT ENDOD1 Frameshift insertion G89Cfs*17 0 0 0 1 0 0 0.003 0 0 0 0 0 267363 chr11 103327014 103327014 G A rs201699865 DYNC2H1 Nonsynonymous SNV R4193H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 267364 chr21 37572767 37572767 C T rs772883237 DOP1B Synonymous SNV P153P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.49 267365 chr1 225305667 225305667 A G rs928053720 DNAH14 Nonsynonymous SNV I1353V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.516 267366 chr7 82583254 82583254 C T rs779720139 PCLO Nonsynonymous SNV V2339M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.21 267367 chr20 60770939 60770939 C - MTG2 R97Afs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 267368 chr20 60913286 60913286 A G LAMA5 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 267369 chr1 228595983 228595983 G A rs200718874 TRIM17 Synonymous SNV P451P 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.828 267370 chr1 109192900 109192900 C T rs35974434 HENMT1 Nonsynonymous SNV R230Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.287 267371 chr11 118828940 118828940 G A rs778857436 UPK2 Synonymous SNV K184K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.606 267372 chr1 109810638 109810638 C T rs537617142 CELSR2 Nonsynonymous SNV R2092W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 267373 chr7 100160511 100160511 C T rs146824330 AGFG2 Synonymous SNV P371P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.42 267374 chr11 121498424 121498424 C G rs143536682 SORL1 Nonsynonymous SNV S2175R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 267375 chr1 111833574 111833574 T G CHIA 0 0 0.003 0 0 0 0 1 0 0 0 0 4.877 267376 chr1 235880023 235880023 C G rs746911004 LYST Nonsynonymous SNV D3206H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 267377 chr21 46925297 46925297 - CCCCCTGGG rs758838502 COL18A1 G1199_T1200insPPG 0.001 0.003 0 0 1 1 0 0 0 0 0 0 267378 chr11 124747069 124747069 A G rs373901661 ROBO3 Nonsynonymous SNV Y931C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 267379 chr1 2461571 2461571 G A rs150791867 HES5 Synonymous SNV L11L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.018 267380 chr21 36259275 36259275 C T RUNX1 Synonymous SNV R45R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 267381 chr22 23230287 23230287 T C rs544538002 IGLL5 Synonymous SNV P18P 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 0.004 267382 chr12 974487 974487 G A rs769105175 WNK1 Nonsynonymous SNV R784H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 17.83 267383 chr12 992974 992974 C T rs772922134 WNK1 Nonsynonymous SNV A986V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 2.909 267384 chr12 2702398 2702398 G C rs767204844 CACNA1C Nonsynonymous SNV E850D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 22.8 267385 chr22 28503778 28503778 C T TTC28 Synonymous SNV K685K 0 0.005 0 0 0 2 0 0 0 0 0 0 8.853 267386 chr21 45928766 45928766 G A rs201339485 TSPEAR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.379 267387 chr12 7635262 7635262 C T rs748750295 CD163 Nonsynonymous SNV R1075Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.09 267388 chr1 32126700 32126700 A T rs373802916 COL16A1 Synonymous SNV G1264G 0.003 0 0 0 3 0 0 0 0 0 0 0 2.6 267389 chr1 33625419 33625419 T A TRIM62 Nonsynonymous SNV I90F 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 267390 chr12 8290756 8290756 C T CLEC4A Nonsynonymous SNV P124L 0.002 0 0 0 2 0 0 0 0 0 0 0 25 267391 chr1 15695937 15695937 C T rs868587232 FHAD1 Nonsynonymous SNV T1107M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.108 267392 chr1 159283524 159283524 T A rs200936951 OR10J3 Nonsynonymous SNV N309I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 267393 chr1 162569129 162569129 T C rs147708415 UAP1 Synonymous SNV H498H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.353 267394 chr12 22354594 22354594 G A ST8SIA1 Synonymous SNV F178F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.782 267395 chr12 25671843 25671843 A G rs764467268 LMNTD1 Nonsynonymous SNV Y275H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.088 267396 chr12 27067350 27067350 G A rs375774879 INTS13 Synonymous SNV N470N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.2 267397 chr12 27850118 27850118 G C rs369463694 REP15 Nonsynonymous SNV C208S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 267398 chr22 30416519 30416519 T C MTMR3 Synonymous SNV H957H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 267399 chr22 30776140 30776140 G A rs199719682 RNF215 Nonsynonymous SNV R307C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 267400 chr22 31285598 31285598 G A rs891144171 OSBP2 Nonsynonymous SNV R77Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 267401 chr22 50671849 50671849 C T rs150608966 TUBGCP6 Nonsynonymous SNV V338I 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.73 267402 chr1 17355095 17355095 G A rs150542357 SDHB Synonymous SNV P141P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.83 267403 chr22 31850133 31850133 G A rs772785847 EIF4ENIF1 Synonymous SNV V503V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 267404 chr22 32439303 32439303 C T rs150288967 SLC5A1 Nonsynonymous SNV A12V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.99 267405 chr12 43944977 43944977 C T ADAMTS20 Nonsynonymous SNV R63Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 267406 chr1 178834293 178834293 G C ANGPTL1 Nonsynonymous SNV Q207E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 267407 chr12 49957299 49957299 G A rs140487822 MCRS1 Synonymous SNV H5H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.828 267408 chr12 49992677 49992677 T C rs764738570 FAM186B Nonsynonymous SNV K742R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.1 267409 chr12 50190030 50190030 G A rs555558496 NCKAP5L Nonsynonymous SNV P538L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.248 267410 chr1 6639471 6639471 G A rs772318722 TAS1R1 Nonsynonymous SNV G531S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 267411 chr8 9609329 9609329 G A rs750387634 TNKS Nonsynonymous SNV A1015T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.57 267412 chr1 185149546 185149546 C T rs772807115 SWT1 Synonymous SNV S330S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 267413 chr12 53200923 53200923 A G rs377399080 KRT4 Nonsynonymous SNV F498S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.3 267414 chr8 21955611 21955611 C T rs59684172 FAM160B2 Synonymous SNV C186C 0 0.005 0.003 0 0 2 0 1 0 0 0 0 8.814 267415 chr8 21986657 21986657 C T rs77620102 HR Synonymous SNV K9K 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 11.86 267416 chr12 54982258 54982258 G A rs747317699 PPP1R1A Synonymous SNV N5N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.969 267417 chr12 55356761 55356761 G C TESPA1 Synonymous SNV P98P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.107 267418 chr8 23116325 23116325 C T rs35799523 CHMP7 Synonymous SNV L237L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.53 267419 chr8 23146087 23146087 C T rs139214222 R3HCC1 Synonymous SNV D17D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.6 267420 chr1 204226970 204226970 G T PLEKHA6 Synonymous SNV R345R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.009 267421 chr2 149240703 149240703 T G rs184415910 MBD5 Nonsynonymous SNV I848R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.9 267422 chr12 55726069 55726069 T C rs748572497 OR6C3 Synonymous SNV I195I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.059 267423 chr1 9305453 9305453 C T rs376524268 H6PD Nonsynonymous SNV R165C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 267424 chr1 205499458 205499458 T A rs56414525 CDK18 Synonymous SNV R431R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 267425 chr2 152499331 152499331 G A NEB Nonsynonymous SNV P2738L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 267426 chr1 20664227 20664227 C A rs199994301 VWA5B1 Nonsynonymous SNV D677E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.47 267427 chr12 76447568 76447568 T G NAP1L1 Nonsynonymous SNV E188A 0.001 0 0 0 1 0 0 0 0 0 0 0 32 267428 chr12 58013988 58013988 A T LOC101927583 0 0 0 1 0 0 0.003 0 0 0 0 0 6.453 267429 chr20 1358050 1358050 A G SDCBP2-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 7.552 267430 chr1 210761406 210761406 G A rs368498838 HHAT Nonsynonymous SNV R266Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.53 267431 chr12 58013656 58013656 C T LOC101927583 0.003 0 0 0 3 0 0 0 0 0 0 0 21.5 267432 chr8 56668879 56668879 A G rs118132656 TMEM68 Synonymous SNV Y25Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 267433 chr12 69756568 69756568 G A rs980707661 YEATS4 Nonsynonymous SNV G18S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 267434 chr12 98927731 98927731 G A rs755082070 TMPO Nonsynonymous SNV D566N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 267435 chr22 46762301 46762301 G A rs144039991 CELSR1 Nonsynonymous SNV S2761L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 267436 chr12 94543105 94543105 G C rs146929512 PLXNC1 Nonsynonymous SNV G120R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.382 267437 chr2 128262310 128262310 G A rs34377117 IWS1 Nonsynonymous SNV A390V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.122 267438 chr2 128408843 128408843 G A rs6708099 GPR17 Synonymous SNV T178T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.451 267439 chr12 100601460 100601460 A G rs778300845 ACTR6 Nonsynonymous SNV N92S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.567 267440 chr12 101759292 101759292 G A rs756559736 UTP20 Nonsynonymous SNV R2005H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 267441 chr20 33577635 33577635 G A rs200292223 MYH7B Synonymous SNV A602A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.74 267442 chr2 141739766 141739766 G A rs113154312 LRP1B Synonymous SNV D950D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.248 267443 chr2 144934710 144934710 T C rs781755056 GTDC1 Synonymous SNV Q25Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 267444 chr12 109644607 109644607 C A rs201793928 ACACB Nonsynonymous SNV N1002K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.4 267445 chr1 232094629 232094629 G C rs771839898 DISC1 Synonymous SNV L557L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.826 267446 chr2 159481595 159481595 G A rs746601274 PKP4 Nonsynonymous SNV R270Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 267447 chr12 112457662 112457662 A G rs749020999 ERP29 Nonsynonymous SNV S83G 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 267448 chr12 117476997 117476997 T A TESC Nonsynonymous SNV I169F 0.002 0 0 0 2 0 0 0 0 0 0 0 33 267449 chr20 419299 419299 C T rs141648576 TBC1D20 Synonymous SNV A381A 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.39 267450 chr1 236760163 236760163 G A rs139982989 HEATR1 Synonymous SNV I239I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.1 267451 chr1 236914888 236914888 G T rs774780856 ACTN2 Nonsynonymous SNV R592I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 267452 chr2 110332226 110332226 A G rs200382879 SEPTIN10 Nonsynonymous SNV F45L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 267453 chr2 168115824 168115824 C T rs568287326 XIRP2 Nonsynonymous SNV T701M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 267454 chr1 2433985 2433985 C T rs190731502 PLCH2 Synonymous SNV T1005T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.652 267455 chr8 144590049 144590049 G A rs116930274 ZC3H3 Nonsynonymous SNV R528W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 267456 chr12 133158097 133158097 T C rs11146955 FBRSL1 Nonsynonymous SNV L679P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.4 267457 chr12 133158650 133158650 C T rs3751303 FBRSL1 Nonsynonymous SNV P710S 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 15.58 267458 chr2 179593297 179593297 G A rs369275615 TTN Synonymous SNV S5208S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.116 267459 chr2 219339390 219339390 A G USP37 Synonymous SNV T754T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 267460 chr20 60887522 60887522 G T LAMA5 Synonymous SNV G3098G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.138 267461 chr2 144709624 144709624 A G GTDC1 Nonsynonymous SNV L358P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.737 267462 chr8 145024752 145024752 G A rs374708902 PLEC Synonymous SNV P41P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.035 267463 chr8 145024786 145024786 T A rs370566037 PLEC Nonsynonymous SNV D30V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 267464 chr8 145024793 145024793 T G rs577947079 PLEC Nonsynonymous SNV K28Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 267465 chr20 60927347 60927347 G A rs115914846 LAMA5 Nonsynonymous SNV A213V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.243 267466 chr20 61292475 61292475 C T rs201057493 SLCO4A1 Nonsynonymous SNV R357C 0.002 0 0 0 2 0 0 0 0 0 0 0 19.41 267467 chr13 25744370 25744370 G T rs372051684 AMER2 Nonsynonymous SNV A463E 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 267468 chr1 26515922 26515922 C T rs375057480 CNKSR1 Synonymous SNV H682H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.584 267469 chr13 32990837 32990837 G C rs1028037603 N4BP2L1 Nonsynonymous SNV C61W 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.12 267470 chr1 27720418 27720418 C T rs911214961 GPR3 Nonsynonymous SNV S39L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.225 267471 chr1 28832556 28832557 CT - rs148971157 SNHG3 0 0 0.003 0 0 0 0 1 0 0 0 0 267472 chr1 28835099 28835099 T A rs116621917 SNORA73B 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 267473 chr1 28906984 28906984 T G rs16837624 SNHG12, SNORA44 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 267474 chr20 62373488 62373488 G A rs370908215 SLC2A4RG Synonymous SNV P195P 0.003 0 0 0 3 0 0 0 0 0 0 0 4.913 267475 chr1 32209842 32209842 C T ADGRB2 Nonsynonymous SNV G347R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 267476 chr13 44456404 44456404 T G LACC1 Nonsynonymous SNV S216A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 267477 chr1 34033403 34033403 G A rs371734201 CSMD2 Nonsynonymous SNV L2724F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.514 267478 chr2 203420075 203420075 G A rs557172581 BMPR2 Nonsynonymous SNV V563M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 25.8 267479 chr13 49777413 49777413 T A rs755898934 FNDC3A Nonsynonymous SNV F1036Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.09 267480 chr1 37267548 37267548 A C rs772179561 GRIK3 Synonymous SNV T888T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.25 267481 chr1 39853371 39853371 G A MACF1 Nonsynonymous SNV E2891K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 267482 chr21 31988853 31988853 A G rs148502636 KRTAP20-1 Nonsynonymous SNV Y27C 0.003 0 0 0 3 0 0 0 0 0 0 0 0.182 267483 chr13 77632448 77632448 C T MYCBP2 Nonsynonymous SNV G4412S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 32 267484 chr2 211542647 211542647 C T rs138125466 CPS1 Nonsynonymous SNV R1481C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 267485 chr2 238969726 238969726 G T rs138164882 SCLY Nonsynonymous SNV A11S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.829 267486 chr21 37597911 37597911 C T rs199879429 DOP1B Synonymous SNV P473P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 267487 chr2 239039130 239039130 G T rs200755257 ESPNL Nonsynonymous SNV W224L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 267488 chr13 101910862 101910862 C T rs781617741 NALCN Nonsynonymous SNV V371M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 267489 chr21 38460547 38460547 A G TTC3 Nonsynonymous SNV D80G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 267490 chr2 239162198 239162198 C T rs34409863 PER2 Synonymous SNV P822P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.21 267491 chr2 239176737 239176737 G A rs35564455 PER2 Synonymous SNV C309C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 267492 chr2 239186565 239186565 C A rs35572922 PER2 Nonsynonymous SNV A5S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 267493 chr2 219267074 219267074 A G rs776544845 CTDSP1 Synonymous SNV P107P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 267494 chr1 47279931 47279931 A G rs770562848 CYP4B1 Nonsynonymous SNV K113E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 267495 chr2 220309740 220309740 C T SPEG Synonymous SNV H224H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.476 267496 chr13 114060885 114060885 C A LOC101928841 Nonsynonymous SNV K540N 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 8.183 267497 chr13 114303710 114303710 G A ATP4B Synonymous SNV F285F 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 267498 chr14 20404376 20404376 T G rs138642977 OR4K1 Nonsynonymous SNV V184G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 267499 chr21 47860054 47860054 G A rs140416280 PCNT Nonsynonymous SNV R2914H 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.627 267500 chr22 19241688 19241688 C T rs143629284 CLTCL1 Nonsynonymous SNV A105T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.23 267501 chr22 19343312 19343312 C T rs782354381 HIRA Synonymous SNV A844A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 267502 chr14 23893269 23893269 G A rs36211716 MYH7 Synonymous SNV N923N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.66 267503 chr1 82302695 82302695 G A rs138982442 ADGRL2 Nonsynonymous SNV R9Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.1 267504 chr2 217498419 217498419 T C IGFBP2 Nonsynonymous SNV V58A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.092 267505 chr1 8425921 8425921 G A rs139017986 RERE Synonymous SNV T466T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 267506 chr22 22869832 22869832 A G rs537099167 ZNF280A Synonymous SNV H41H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.013 267507 chr14 24878083 24878083 G A rs377260028 NYNRIN Synonymous SNV P361P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.779 267508 chr14 24880400 24880400 C T rs376203691 NYNRIN Nonsynonymous SNV R845W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 267509 chr2 53978068 53978068 T A rs753702521 ASB3, GPR75-ASB3 Nonsynonymous SNV E107D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.61 267510 chr14 37892116 37892116 A T rs140610889 MIPOL1 Nonsynonymous SNV K331N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 267511 chr2 61575116 61575116 C T rs142392366 USP34 Nonsynonymous SNV R725Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 267512 chr14 50088065 50088065 A G rs1023249434 MGAT2 Nonsynonymous SNV S27G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 267513 chr1 93202179 93202179 C T rs760574385 EVI5 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 267514 chr1 93965129 93965129 G A rs1426316 FNBP1L Synonymous SNV A43A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.31 267515 chr2 27466379 27466379 G A rs138694992 CAD Nonsynonymous SNV R2161H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 267516 chr2 74900588 74900588 G C rs34617503 SEMA4F Synonymous SNV G152G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.348 267517 chr22 40140194 40140194 T C ENTHD1 Synonymous SNV S438S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.022 267518 chr2 37255941 37255941 C G HEATR5B Nonsynonymous SNV D1162H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 267519 chr14 65494292 65494292 G A rs749833564 CHURC1-FNTB, FNTB Nonsynonymous SNV E166K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 267520 chr20 2635118 2635118 G T rs750240595 NOP56 Nonsynonymous SNV K89N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 267521 chr14 73964916 73964916 C T rs764956991 HEATR4 Nonsynonymous SNV R830Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.46 267522 chr2 46411881 46411881 A G rs780881206 PRKCE Nonsynonymous SNV K692R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 267523 chr14 74551086 74551086 T C rs754069309 ALDH6A1 Synonymous SNV L4L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.946 267524 chr14 75052805 75052805 C T rs769794634 LTBP2 Synonymous SNV P194P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.21 267525 chr14 77493415 77493415 T G rs199502327 IRF2BPL Nonsynonymous SNV N241H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 267526 chr20 363205 363205 C T rs553561648 TRIB3 Nonsynonymous SNV L6F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.058 267527 chr20 3675013 3675013 G C SIGLEC1 Nonsynonymous SNV S1037R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 267528 chr20 3675448 3675448 G T rs199784366 SIGLEC1 Nonsynonymous SNV P936T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 267529 chr14 78140426 78140426 C A ALKBH1 Nonsynonymous SNV G300V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 267530 chr20 37555378 37555378 C A FAM83D Stop gain S98X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 267531 chr14 93183797 93183797 A C LGMN Synonymous SNV T82T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.764 267532 chr2 73492584 73492584 G A rs199960192 FBXO41 Nonsynonymous SNV R464C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29 267533 chr2 74642289 74642289 C T C2orf81 Nonsynonymous SNV G244S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.916 267534 chr2 74687357 74687357 G A WBP1 Nonsynonymous SNV S120N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 267535 chr20 45170069 45170069 C A rs6122509 OCSTAMP Synonymous SNV P515P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 267536 chr14 102912148 102912148 G C rs144147210 TECPR2 Nonsynonymous SNV R980T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.56 267537 chr14 103566932 103566932 G A EXOC3L4 Nonsynonymous SNV E126K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.525 267538 chr14 103966537 103966537 G C MARK3 Nonsynonymous SNV S630T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 267539 chr2 95756184 95756184 A G MRPS5 Nonsynonymous SNV S260P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 267540 chr14 104642319 104642319 C T rs776383794 KIF26A Nonsynonymous SNV A1065V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 267541 chr14 105396345 105396345 G A rs778484699 PLD4 Nonsynonymous SNV R214Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.541 267542 chr3 100963119 100963119 C T rs148392938 IMPG2 Nonsynonymous SNV A686T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.022 267543 chr3 160395616 160395616 G A rs759219063 ARL14 Nonsynonymous SNV G161E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 267544 chr20 61939423 61939423 G A rs769896596 COL20A1 Synonymous SNV K252K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.542 267545 chr3 169572642 169572642 A G LRRC31 Nonsynonymous SNV L261P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 267546 chr15 40656717 40656717 G A rs146996300 DISP2 Nonsynonymous SNV R192Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.764 267547 chr15 40633097 40633097 G T rs747569424 CCDC9B Nonsynonymous SNV A19D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.1 267548 chr15 41476265 41476265 G A EXD1 Nonsynonymous SNV S470F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.8 267549 chr3 121414225 121414225 A G GOLGB1 Synonymous SNV A1635A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.6 267550 chr15 42111478 42111478 G C rs146496507 MAPKBP1 Nonsynonymous SNV A776P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 267551 chr15 42442320 42442320 C T PLA2G4F Nonsynonymous SNV S302N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.02 267552 chr3 184870447 184870447 C T C3orf70 Synonymous SNV L55L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.25 267553 chr21 36410870 36410881 CTCTCTCTCTCT - rs370849672 RUNX1-IT1 0 0 0.007 0 0 0 0 2 0 0 1 0 267554 chr15 42676722 42676722 C T rs772886155 CAPN3 Synonymous SNV N117N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.47 267555 chr10 63212571 63212571 G A TMEM26-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 9.93 267556 chr3 156763348 156763348 G A rs200609443 LEKR1 Nonsynonymous SNV G630R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.23 267557 chr15 42981722 42981722 C T STARD9 Nonsynonymous SNV S2649F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.55 267558 chr21 38092195 38092195 C T rs142378405 SIM2 Nonsynonymous SNV T141M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.8 267559 chr15 43748604 43748604 T C rs138169643 TP53BP1 Synonymous SNV Q734Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 267560 chr3 160474457 160474457 C T PPM1L Nonsynonymous SNV P121S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 267561 chr15 43739617 43739617 G A rs759443391 TP53BP1 Nonsynonymous SNV P928L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 267562 chr21 42807881 42807881 G A rs150271063 MX1 Nonsynonymous SNV V75I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 267563 chr3 128706550 128706550 C A KIAA1257 Nonsynonymous SNV W80C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 267564 chr15 49325225 49325225 T C rs200133351 SECISBP2L Nonsynonymous SNV N201D 0.003 0 0 0 3 0 0 0 0 0 0 0 16.82 267565 chr21 43547789 43547789 G A rs765010548 UMODL1 Nonsynonymous SNV V1236M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 267566 chr15 51758481 51758481 C G rs144695767 DMXL2 Nonsynonymous SNV V1837L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 267567 chr21 45651266 45651266 G A rs773712752 ICOSLG, LOC102723996 Synonymous SNV N136N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.508 267568 chr3 184025782 184025782 C G PSMD2 Synonymous SNV V671V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.3 267569 chr15 56387513 56387513 T A RFX7 Nonsynonymous SNV M708L 0.001 0 0 0 1 0 0 0 0 0 0 0 2 267570 chr15 56387326 56387326 G A RFX7 Nonsynonymous SNV S770F 0 0 0 1 0 0 0.003 0 0 0 0 0 26 267571 chr3 135969299 135969299 C G rs141137691 PCCB Nonsynonymous SNV L28V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.02 267572 chr15 56958922 56958922 C T rs143046400 ZNF280D Nonsynonymous SNV S590N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.99 267573 chr21 47541477 47541477 G A rs61735828 COL6A2 Nonsynonymous SNV R489Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 267574 chr21 47545892 47545892 G A rs16978875 COL6A2 Synonymous SNV Q721Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.897 267575 chr21 47556396 47556396 G T rs114980528 FTCD Nonsynonymous SNV T564K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.391 267576 chr21 47572883 47572883 T C FTCD Nonsynonymous SNV D102G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 267577 chr15 59359078 59359078 C T rs768770705 RNF111 Synonymous SNV H494H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.42 267578 chr2 186661424 186661424 G A rs562174319 FSIP2 Synonymous SNV G3187G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 267579 chr3 126201189 126201189 C T UROC1 Synonymous SNV X677X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.9 267580 chr3 148876548 148876548 A G rs147557809 HPS3 Nonsynonymous SNV E431G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.51 267581 chr3 14942512 14942512 G A rs761114610 FGD5 Nonsynonymous SNV A1070T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 267582 chr15 72260325 72260325 C T MYO9A Synonymous SNV K662K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.4 267583 chr15 72553951 72553951 C T PARP6 Nonsynonymous SNV G165S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 267584 chr15 75114219 75114219 A G LMAN1L Nonsynonymous SNV H370R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.206 267585 chr15 75336766 75336766 C A rs772964563 PPCDC Nonsynonymous SNV L59M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 267586 chr3 169820456 169820456 G A rs750218946 PHC3 Nonsynonymous SNV H870Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 267587 chr22 24761498 24761498 C T rs5996694 SPECC1L Nonsynonymous SNV A27V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.8 267588 chr15 78575781 78575781 G C WDR61 Nonsynonymous SNV P211R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 267589 chr15 78308978 78308978 C T rs148428590 TBC1D2B Nonsynonymous SNV R562Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 267590 chr10 104163010 104163010 G A rs139082642 PSD Nonsynonymous SNV R1008C 0 0.005 0 0 0 2 0 0 0 0 0 0 23.6 267591 chr10 104629603 104629603 G A rs184767624 AS3MT 0 0.005 0 0 0 2 0 0 0 0 0 0 22 267592 chr3 1444043 1444043 G A rs781657249 CNTN6 Synonymous SNV L849L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.34 267593 chr15 82444164 82444164 G C rs761306150 EFL1 Synonymous SNV T826T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.116 267594 chr3 184294931 184294931 G A rs34076689 EPHB3 Synonymous SNV P438P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.819 267595 chr22 31688309 31688309 C G PIK3IP1 Nonsynonymous SNV A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 267596 chr3 150931343 150931343 G A rs141983619 P2RY14 Synonymous SNV I254I 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 8.958 267597 chr3 151090476 151090476 C T rs147695554 MED12L Synonymous SNV S1227S 0.003 0 0.003 3 3 0 0.008 1 0 0 0 0 13.14 267598 chr22 32894480 32894480 G A rs778070957 FBXO7 Nonsynonymous SNV R432K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 267599 chr15 86118415 86118415 A C rs114219897 AKAP13 Nonsynonymous SNV Y239S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 267600 chr22 35813760 35813760 T A rs200754684 MCM5 Synonymous SNV T538T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.53 267601 chr15 90176437 90176437 C T rs139217034 KIF7 Nonsynonymous SNV A885T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 267602 chr15 90784843 90784843 A T rs147678028 GDPGP1 Nonsynonymous SNV S235C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 267603 chr22 39262569 39262569 A T CBX6 Nonsynonymous SNV L277H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 267604 chr15 98512438 98512438 A G rs150816834 ARRDC4 Synonymous SNV T237T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.488 267605 chr3 179123046 179123046 C T rs186593898 GNB4 Nonsynonymous SNV R283H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 267606 chr15 98512518 98512518 C G ARRDC4 Nonsynonymous SNV T264R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 267607 chr15 93595370 93595370 G A rs199964657 RGMA Synonymous SNV F150F 0 0 0 2 0 0 0.005 0 0 0 0 0 11.24 267608 chr22 45182427 45182427 C T rs201858623 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV A7V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 267609 chr15 101938608 101938608 C G rs776975290 PCSK6 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 267610 chr16 334713 334713 G C PDIA2 Nonsynonymous SNV S154T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 267611 chr3 32568400 32568400 C A rs143517124 DYNC1LI1 Nonsynonymous SNV G372V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 267612 chr22 48942608 48942608 C T rs79112118 LOC284933 0 0 0.003 0 0 0 0 1 0 0 0 0 6.902 267613 chr3 33194896 33194896 C T rs146928958 SUSD5 Nonsynonymous SNV D410N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.611 267614 chr3 33557617 33557617 C T CLASP2 Synonymous SNV K1124K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 267615 chr3 40192656 40192656 C T rs146315245 MYRIP Synonymous SNV G150G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.59 267616 chr16 3042631 3042631 C T rs138168123 LINC00514 0.001 0 0 0 1 0 0 0 0 0 0 0 1.88 267617 chr16 1573547 1573547 G A rs370255916 IFT140 Nonsynonymous SNV A1142V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 267618 chr16 3273921 3273921 A - ZNF200 S386Qfs*18 0.001 0 0 1 1 0 0.003 0 0 0 0 0 267619 chr16 2580380 2580380 C A rs369689531 AMDHD2, CEMP1 Nonsynonymous SNV C232F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.32 267620 chr2 109545746 109545746 C T EDAR Synonymous SNV R88R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 267621 chr2 110015223 110015223 A G rs201884932 SH3RF3 Nonsynonymous SNV N375D 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 267622 chr16 4847951 4847951 G A ROGDI Nonsynonymous SNV P228L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.8 267623 chr2 242207019 242207019 G C HDLBP Synonymous SNV V15V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.898 267624 chr2 114493409 114493409 T C rs576219497 SLC35F5 Synonymous SNV Q253Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.63 267625 chr2 11758717 11758717 C T rs200183889 GREB1 Nonsynonymous SNV T1239M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.647 267626 chr2 120078733 120078733 A G rs773022239 C2orf76 Nonsynonymous SNV Y61H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26 267627 chr16 4513675 4513675 C T rs375090595 NMRAL1 Nonsynonymous SNV V236M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 267628 chr3 49568587 49568587 C T rs562046526 DAG1 Nonsynonymous SNV R215W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.8 267629 chr2 125671722 125671722 C T rs201418873 CNTNAP5 Nonsynonymous SNV R1261W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 267630 chr3 50379869 50379869 G A rs372975420 ZMYND10 Nonsynonymous SNV R273C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 267631 chr16 8719631 8719631 C T rs371213288 METTL22 Nonsynonymous SNV R37W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 267632 chr3 52084879 52084879 C T rs150849081 DUSP7 Synonymous SNV T404T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 267633 chr3 52393971 52393971 C T rs367684134 DNAH1 Nonsynonymous SNV R1483C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 267634 chr3 44373480 44373480 G T TOPAZ1 Nonsynonymous SNV V1686F 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 24 267635 chr16 11554976 11554976 C G LOC400499 0 0 0 1 0 0 0.003 0 0 0 0 0 15.79 267636 chr2 29404617 29404617 G A rs140795468 CLIP4 Nonsynonymous SNV R659Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 267637 chr16 22161251 22161251 T C rs763794102 VWA3A Nonsynonymous SNV L1043P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 267638 chr16 16208690 16208690 C T rs367865188 ABCC1 Synonymous SNV H1049H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.755 267639 chr2 15470846 15470846 C T rs778741498 NBAS Nonsynonymous SNV R1408H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 267640 chr2 3789577 3789577 G A DCDC2C Nonsynonymous SNV D162N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.34 267641 chr4 123141572 123141572 A G KIAA1109 Nonsynonymous SNV M854V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 267642 chr16 21215449 21215449 G T rs1027033238 ZP2 Nonsynonymous SNV Q292K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.001 267643 chr2 169574439 169574439 A G rs149085643 CERS6 Nonsynonymous SNV M266V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 267644 chr16 30545865 30545865 A G rs201742755 ZNF747 Nonsynonymous SNV F46L 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 24.7 267645 chr2 179320755 179320755 C T PJVK Synonymous SNV H142H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 267646 chr2 179448324 179448324 A G rs72646864 TTN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.15 267647 chr2 179463744 179463744 C T rs572453785 TTN Nonsynonymous SNV R9833H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 267648 chr2 179579770 179579770 A G TTN Nonsynonymous SNV C7471R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 267649 chr2 179587128 179587128 A T rs183482849 TTN Nonsynonymous SNV D6218E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.46 267650 chr2 179640893 179640893 C T rs750823043 TTN Nonsynonymous SNV V1854M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.67 267651 chr2 188211093 188211093 A G CALCRL Nonsynonymous SNV Y402H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 267652 chr3 69058822 69058822 G C rs139295083 EOGT Nonsynonymous SNV T59S 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 6.97 267653 chr4 114186065 114186065 G T rs1060501161 ANK2 Nonsynonymous SNV A397S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.9 267654 chr16 66804115 66804115 C T rs200317788 TERB1 Nonsynonymous SNV R457Q 0 0 0 1 0 0 0.003 0 0 0 0 0 4.514 267655 chr16 80718729 80718729 G A rs766737973 CDYL2 Stop gain R108X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 267656 chr3 97590887 97590887 G T CRYBG3 Nonsynonymous SNV L283F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.055 267657 chr16 68725645 68725645 G A rs756373796 CDH3 Synonymous SNV L551L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 267658 chr16 77328872 77328872 G C rs147793662 ADAMTS18 Nonsynonymous SNV A813G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.94 267659 chr4 25664455 25664455 A C SLC34A2 Nonsynonymous SNV K80Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 267660 chr4 25674867 25674867 A G rs141905062 SLC34A2 Nonsynonymous SNV I402V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.18 267661 chr16 81249909 81249909 G A rs201455881 PKD1L2 Nonsynonymous SNV P135L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 267662 chr16 84027919 84027919 C G rs778491123 NECAB2 Nonsynonymous SNV I120M 0 0 0 1 0 0 0.003 0 0 0 0 0 2.512 267663 chr3 113775306 113775306 A G rs140131124 CCDC191 Nonsynonymous SNV L3P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.99 267664 chr16 87365074 87365074 G A rs777698523 FBXO31 Synonymous SNV S480S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 267665 chr16 89291157 89291157 A G rs150830617 ZNF778 Nonsynonymous SNV Y92C 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.116 267666 chr16 89293501 89293501 G A rs148111555 ZNF778 Nonsynonymous SNV A241T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.446 267667 chr16 88494505 88494505 G T rs113227277 ZNF469 Synonymous SNV G209G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.418 267668 chr16 88496285 88496285 G T rs113484918 ZNF469 Nonsynonymous SNV A803S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.001 267669 chr2 224462950 224462950 G T SCG2 Nonsynonymous SNV L351M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 267670 chr2 227907884 227907884 G C rs200065408 COL4A4 Synonymous SNV S1102S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 5.864 267671 chr2 233704674 233704674 G A rs146430802 GIGYF2 Nonsynonymous SNV R955Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 267672 chr16 89649852 89649852 G C CPNE7 Nonsynonymous SNV R166S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.031 267673 chr17 2227558 2227558 C T rs146217351 TSR1 Nonsynonymous SNV V783I 0.002 0 0 0 2 0 0 0 0 0 0 0 25 267674 chr4 69978184 69978184 G T rs145217059 UGT2B7 Nonsynonymous SNV R367I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 267675 chr2 239039620 239039620 G A rs774632149 ESPNL Synonymous SNV T387T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.107 267676 chr17 3828691 3828691 G A rs766610781 ATP2A3 Nonsynonymous SNV P1038L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.744 267677 chr17 3324429 3324429 C G rs201341246 OR3A3 Nonsynonymous SNV L190V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 267678 chr17 3628002 3628002 A G rs769936624 HASPIN Nonsynonymous SNV E258G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.8 267679 chr4 36069762 36069762 G - ARAP2 R1628Efs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 267680 chr17 4534940 4534940 G A ALOX15 Synonymous SNV Y648Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.251 267681 chr17 7010376 7010376 C T rs568855579 ASGR2 Synonymous SNV E183E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.965 267682 chr4 41691564 41691564 T C LIMCH1 Nonsynonymous SNV L819P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 267683 chr2 32613831 32613831 C T rs141023338 BIRC6 Nonsynonymous SNV T220I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 267684 chr17 7643152 7643152 G A rs142747431 DNAH2 Synonymous SNV L424L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.1 267685 chr3 15455332 15455332 G T METTL6 Nonsynonymous SNV S246R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.77 267686 chr17 8138466 8138466 G A rs758414171 CTC1 Synonymous SNV Y448Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.605 267687 chr17 7365289 7365289 A T rs114898274 ZBTB4 Synonymous SNV V1004V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 267688 chr17 7460514 7460514 G A rs143039184 TNFSF12 Synonymous SNV A199A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.007 267689 chr2 43452664 43452664 G A rs369626026 ZFP36L2 Synonymous SNV G93G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 267690 chr17 7720920 7720920 C T rs78005021 DNAH2 Synonymous SNV I3354I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 267691 chr2 46707838 46707838 - CGCAGCGGGAGCGGCAGCACGAGG TMEM247 L138delinsPQRERQHEV 0 0 0.007 0 0 0 0 2 0 0 0 0 267692 chr2 46707839 46707839 - GGTGATGGAGCAGCC TMEM247 L138_Q139insVMEQP 0 0 0.007 0 0 0 0 2 0 0 0 0 267693 chr4 6082028 6082028 C T JAKMIP1 Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 267694 chr17 18194192 18194192 A G rs142931237 TOP3A Synonymous SNV Y382Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.041 267695 chr17 10321965 10321965 T C MYH8 Nonsynonymous SNV T170A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.577 267696 chr2 65299527 65299527 A G rs780873466 CEP68 Nonsynonymous SNV M433V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 267697 chr3 185146499 185146499 G A rs35266179 MAP3K13 Nonsynonymous SNV E44K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 20.5 267698 chr17 16843717 16843717 A C rs778227535 TNFRSF13B Nonsynonymous SNV F185C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25 267699 chr17 16852292 16852292 - T rs72553875 TNFRSF13B Frameshift insertion L69Tfs*12 0.001 0 0 1 1 0 0.003 0 0 0 0 0 267700 chr4 7663263 7663263 C T rs920862565 SORCS2 Synonymous SNV V308V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 267701 chr2 84851636 84851636 C T rs199886756 DNAH6 Synonymous SNV Y1415Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.985 267702 chr11 58275220 58275220 C T rs141984440 OR5B21 Nonsynonymous SNV R120H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 267703 chr11 58391832 58391832 G A rs139216754 CNTF Nonsynonymous SNV G147E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 267704 chr2 86832132 86832132 T C rs61760875 RNF103 Nonsynonymous SNV R298G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.619 267705 chr17 26726702 26726702 G A rs782161667 SLC46A1 Synonymous SNV L422L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.004 267706 chr3 10005837 10005837 T C rs201397681 EMC3 Synonymous SNV L234L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.986 267707 chr17 30526525 30526525 T C RHOT1 Synonymous SNV N352N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.806 267708 chr17 38421234 38421234 C A WIPF2 Nonsynonymous SNV T269N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.93 267709 chr5 149439391 149439391 A G CSF1R Synonymous SNV Y668Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.801 267710 chr5 112929079 112929079 G A rs1041768224 YTHDC2 Synonymous SNV X1131X 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 267711 chr17 38559279 38559279 A G rs757961716 TOP2A Synonymous SNV L771L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.565 267712 chr3 121229016 121229016 A G rs370037814 POLQ Synonymous SNV S562S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.614 267713 chr3 44541407 44541407 G A rs544791931 ZNF852 Stop gain R288X 0.003 0 0 0 3 0 0 0 0 0 0 0 34 267714 chr17 39216085 39216085 C T rs113397060 KRTAP2-3 Nonsynonymous SNV C73Y 0 0 0 2 0 0 0.005 0 0 0 0 0 27.2 267715 chr5 156565748 156565748 C T rs772401096 MED7 Nonsynonymous SNV R232K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 267716 chr3 123674922 123674922 A G rs767118399 CCDC14 Nonsynonymous SNV L67P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 267717 chr17 39671917 39671917 C T rs79344504 KRT15 Nonsynonymous SNV E352K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 267718 chr5 176931853 176931853 G A rs765323088 DOK3 Nonsynonymous SNV P77L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 267719 chr17 45895919 45895919 G A rs201097417 OSBPL7 Nonsynonymous SNV R145C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 267720 chr17 48156450 48156450 T A ITGA3 Nonsynonymous SNV M804K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 267721 chr5 74364404 74364404 T C rs113471789 ANKRD31 Synonymous SNV P1854P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 5.771 267722 chr5 74400378 74400378 T C rs113554665 ANKRD31 Nonsynonymous SNV N1612S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.005 267723 chr5 74414124 74414124 T A rs946880842 ANKRD31 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25 267724 chr5 74443121 74443121 G A rs113352474 ANKRD31 Synonymous SNV Y705Y 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.356 267725 chr5 74491742 74491742 C T rs111905256 ANKRD31 Nonsynonymous SNV S244N 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.113 267726 chr5 74651294 74651294 C G rs111818559 HMGCR Synonymous SNV L556L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.91 267727 chr5 74807112 74807112 G A rs113315575 CERT1 Nonsynonymous SNV P102L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Likely benign 23.3 267728 chr3 15298549 15298549 C T rs138210635 SH3BP5 Nonsynonymous SNV V164M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 267729 chr5 75428021 75428021 G A rs200407202 SV2C Nonsynonymous SNV R149H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 28.7 267730 chr17 58235086 58235086 G A rs201148452 CA4 Synonymous SNV S150S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.398 267731 chr5 39388413 39388413 A G rs74808556 DAB2 Synonymous SNV S227S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.054 267732 chr5 149918882 149918882 C T rs763620272 NDST1 Synonymous SNV N510N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.8 267733 chr5 428022 428022 C T rs183151904 AHRR Nonsynonymous SNV A274V 0.001 0.008 0.003 2 1 3 0.005 1 0 0 0 0 2.374 267734 chr5 150921922 150921922 G T rs748256749 FAT2 Synonymous SNV G2922G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.317 267735 chr3 174815073 174815073 G C rs367765642 NAALADL2 Nonsynonymous SNV K179N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 267736 chr17 61824244 61824244 C T CCDC47 Nonsynonymous SNV M483I 0 0 0 1 0 0 0.003 0 0 0 0 0 24 267737 chr3 179690979 179690979 A G PEX5L Nonsynonymous SNV S21P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 267738 chr3 183602542 183602542 C G rs747710240 PARL Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 267739 chr5 55256238 55256238 T C rs762239095 IL6ST Nonsynonymous SNV M18V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 267740 chr3 184008139 184008139 C T rs200016332 ECE2, EEF1AKMT4-ECE2 Stop gain R521X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 267741 chr3 184911183 184911183 T C rs58044717 EHHADH Nonsynonymous SNV T239A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 267742 chr5 169021672 169021672 T C rs201242667 SPDL1 Nonsynonymous SNV M293T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 267743 chr17 73587252 73587252 G C rs891663489 MYO15B 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 267744 chr4 13600782 13600782 G C BOD1L1 Nonsynonymous SNV S2581C 0.003 0 0 0 3 0 0 0 0 0 0 0 20.7 267745 chr5 176952198 176952200 CTC - rs770879664 FAM193B E428del 0.001 0 0 0 1 0 0 0 0 0 0 0 267746 chr5 151176848 151176848 A G rs749158922 G3BP1 Synonymous SNV P200P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.985 267747 chr3 194162060 194162060 T A rs764581649 ATP13A3 Nonsynonymous SNV M564L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 267748 chr3 194162066 194162066 G A rs754127505 ATP13A3 Synonymous SNV L562L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 267749 chr11 126120407 126120407 A G rs775594818 FAM118B Nonsynonymous SNV S116G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.712 267750 chr5 78938758 78938758 G A rs374718741 TENT2 Nonsynonymous SNV C259Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.04 267751 chr3 196235166 196235166 G A rs535862473 SMCO1 Synonymous SNV Y79Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 267752 chr3 196675523 196675523 C A PIGZ Nonsynonymous SNV W82L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 267753 chr3 196771536 196771536 T C rs375490772 DLG1 Synonymous SNV Q775Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 267754 chr3 197495346 197495346 T A rs747480786 FYTTD1 Nonsynonymous SNV V91E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 267755 chr3 19992432 19992432 G A rs6773437 RAB5A Synonymous SNV T14T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 267756 chr17 74286135 74286135 G C QRICH2 Nonsynonymous SNV L1080V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 267757 chr17 74398157 74398157 G A rs757731628 UBE2O Synonymous SNV H246H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 267758 chr17 74465987 74465987 A G rs754158557 AANAT Nonsynonymous SNV T187A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.048 267759 chr3 32493946 32493946 G C rs373670486 CMTM7 Synonymous SNV S132S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.583 267760 chr17 78184464 78184464 G A rs141153056 SGSH Synonymous SNV Y432Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.448 267761 chr3 37033970 37033970 G C rs746155262 EPM2AIP1 Nonsynonymous SNV P200R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 267762 chr5 95091351 95091351 A G rs775447703 RHOBTB3 Nonsynonymous SNV T312A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 267763 chr3 40457341 40457341 G A ENTPD3 Stop gain W203X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 267764 chr17 79898789 79898789 G T rs201601082 MYADML2 Nonsynonymous SNV Q277K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 267765 chr17 79898820 79898820 G T rs377112990 MYADML2 Nonsynonymous SNV N266K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.169 267766 chr3 42568924 42568924 A G rs778484751 VIPR1 Nonsynonymous SNV T99A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 267767 chr12 7045900 7045900 - CAGCAGCAG ATN1 Q502_H503insQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 267768 chr17 79094712 79094712 - GTGGCC AATK T905_S906insAT 0 0 0 1 0 0 0.003 0 0 0 0 0 267769 chr18 6986298 6986298 C A rs201901346 LAMA1 Synonymous SNV P1739P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 267770 chr18 5969427 5969427 G A rs898090328 L3MBTL4 Nonsynonymous SNV R527W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 267771 chr18 8379333 8379333 A G PTPRM Nonsynonymous SNV M1248V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 267772 chr18 6964786 6964786 G A rs146438640 LAMA1 Synonymous SNV I2404I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.42 267773 chr18 20832979 20832979 C A CABLES1 Nonsynonymous SNV T501N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 267774 chr3 58129294 58129294 C T FLNB Synonymous SNV V1769V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 267775 chr3 65342440 65342440 G A rs147123131 MAGI1 Synonymous SNV D1334D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 4.53 267776 chr18 54358453 54358453 G A rs757273274 WDR7 Nonsynonymous SNV D242N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 267777 chr18 54361875 54361875 G A rs142622812 WDR7 Nonsynonymous SNV R331Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 267778 chr18 50912502 50912502 A G DCC Nonsynonymous SNV I817V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 267779 chr18 48573664 48573664 - GGTTAGT SMAD4 Frameshift insertion A85Sfs*21 0 0 0 1 0 0 0.003 0 0 0 0 0 267780 chr18 50705349 50705349 C A rs752557178 DCC Nonsynonymous SNV T479K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 267781 chr6 106967564 106967564 A T rs184610787 CRYBG1 Synonymous SNV V419V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.09 267782 chr4 106197606 106197606 C T rs372490795 TET2 Nonsynonymous SNV T1980I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 267783 chr18 60645683 60645683 C T rs747584157 PHLPP1 Synonymous SNV N1391N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.695 267784 chr6 109954115 109954115 T A AK9 X422L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.882 267785 chr6 110434601 110434601 C T WASF1 Nonsynonymous SNV V66I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 267786 chr6 110540583 110540583 A G rs141341939 CDC40 Synonymous SNV R369R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.94 267787 chr18 76752670 76752670 C T rs376584783 SALL3 Nonsynonymous SNV R227C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 267788 chr18 77496489 77496489 C T CTDP1 Nonsynonymous SNV A851V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.83 267789 chr4 118005617 118005617 T A rs145229083 TRAM1L1 Synonymous SNV V311V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.515 267790 chr6 119501025 119501025 G A MAN1A1 Nonsynonymous SNV L641F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 267791 chr4 125631441 125631441 C T rs148831490 ANKRD50 Nonsynonymous SNV V76I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.24 267792 chr19 1044616 1044616 G A ABCA7 Nonsynonymous SNV R363K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 267793 chr4 153332714 153332714 T C rs139738471 FBXW7 Nonsynonymous SNV N81S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.805 267794 chr6 138752241 138752241 C T rs3734305 NHSL1 Nonsynonymous SNV V1085M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 267795 chr19 1108311 1108311 C T SBNO2 Nonsynonymous SNV A1280T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.55 267796 chr4 164050383 164050383 C A NAF1 Nonsynonymous SNV R384L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.12 267797 chr4 184932575 184932575 C T rs201760642 STOX2 Nonsynonymous SNV R862C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 267798 chr6 157495209 157495209 C T rs147853607 ARID1B Synonymous SNV D268D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 267799 chr19 4860006 4860006 G A rs375389216 PLIN3 Nonsynonymous SNV P33S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 267800 chr19 4428744 4428744 C A rs758852937 CHAF1A Nonsynonymous SNV F487L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.179 267801 chr12 68689096 68689096 G A rs146132026 MDM1 Nonsynonymous SNV R415W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 267802 chr19 5222923 5222923 C T rs778022333 PTPRS Synonymous SNV G938G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 267803 chr19 7677572 7677572 C A CAMSAP3 Synonymous SNV P731P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 267804 chr5 134223521 134223521 G A rs143218475 TXNDC15 Synonymous SNV A12A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.8 267805 chr19 7985254 7985254 G A SNAPC2 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 267806 chr5 137089204 137089204 A G rs759829358 HNRNPA0 Synonymous SNV G184G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.46 267807 chr4 42627694 42627694 T G rs781449081 ATP8A1 Nonsynonymous SNV R67S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 267808 chr5 139622990 139622990 C T rs754879605 CYSTM1 Synonymous SNV L96L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.93 267809 chr5 140038909 140038909 G A rs773176317 IK Nonsynonymous SNV V396I 0.003 0 0 0 3 0 0 0 0 0 0 0 19.93 267810 chr4 48141017 48141017 T G TEC Nonsynonymous SNV T520P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 267811 chr4 48147203 48147203 G A rs768171223 TEC Stop gain R455X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 267812 chr6 7230042 7230042 G A rs370148844 RREB1 Synonymous SNV Q570Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.008 267813 chr4 515503 515503 C G rs115766555 PIGG Nonsynonymous SNV L330V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.015 267814 chr12 109625884 109625884 C T rs139485150 ACACB Synonymous SNV A687A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 267815 chr6 26465437 26465437 C T rs762721200 BTN2A1 Nonsynonymous SNV P185L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 267816 chr4 660343 660343 G A rs758923888 PDE6B Synonymous SNV A379A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 267817 chr6 33636847 33636847 C T rs767808569 ITPR3 Synonymous SNV N701N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 267818 chr4 71509054 71509054 C G ENAM Synonymous SNV L419L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.379 267819 chr6 35587923 35587923 T C rs145385432 FKBP5 Nonsynonymous SNV T127A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 267820 chr4 79301104 79301104 G T FRAS1 Nonsynonymous SNV V1173L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 267821 chr4 8229005 8229005 C T rs142720934 SH3TC1 Synonymous SNV S452S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.153 267822 chr19 11978237 11978237 T A ZNF439 Nonsynonymous SNV V118E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.06 267823 chr4 88537054 88537054 T C rs770176700 DSPP Synonymous SNV D1080D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 267824 chr6 46867771 46867771 C T rs138615507 ADGRF5 Nonsynonymous SNV R51Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.66 267825 chr19 17007064 17007064 C T rs201195391 CPAMD8 Synonymous SNV Q1783Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.577 267826 chr7 107258963 107258963 T C BCAP29, DUS4L-BCAP29 Synonymous SNV Y260Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 267827 chr7 108154659 108154659 A C rs141089628 PNPLA8 Nonsynonymous SNV C379G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 12.29 267828 chr6 64422325 64422325 C A PHF3 Nonsynonymous SNV S1526Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 267829 chr19 17317548 17317548 A G rs201528246 MYO9B Nonsynonymous SNV E1816G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 267830 chr5 127640656 127640656 C T FBN2 Nonsynonymous SNV M1931I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 267831 chr19 17445836 17445836 C T rs187068571 GTPBP3 Synonymous SNV P8P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.626 267832 chr5 131713919 131713919 C G rs201024237 SLC22A5 Nonsynonymous SNV P153A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.398 267833 chr6 44982559 44982559 C T rs376196104 SUPT3H Nonsynonymous SNV D29N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 267834 chr19 17922777 17922777 T C rs141769122 B3GNT3 Nonsynonymous SNV V322A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.68 267835 chr6 74513007 74513007 C A rs373674357 CD109 Nonsynonymous SNV D904E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 267836 chr19 18308289 18308289 G A rs764857074 RAB3A Synonymous SNV C218C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 267837 chr5 140181604 140181604 T C PCDHA3 Synonymous SNV N274N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 267838 chr19 30313453 30313453 C T rs775592534 CCNE1 Synonymous SNV G306G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.54 267839 chr5 140432731 140432731 G A rs782535704 PCDHB1 Nonsynonymous SNV R559H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 267840 chr19 33663265 33663265 G A rs200368986 WDR88 Nonsynonymous SNV M387I 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 10.07 267841 chr19 34712618 34712618 G A rs2274896 LSM14A Nonsynonymous SNV R448Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 267842 chr7 138946159 138946159 A C rs769297154 UBN2 Nonsynonymous SNV N356T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.168 267843 chr7 100466473 100466473 C T rs370303544 TRIP6 Synonymous SNV G240G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 267844 chr5 141242834 141242834 C T PCDH1 Nonsynonymous SNV S642N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 267845 chr13 103401944 103401944 T C rs779496252 CCDC168 Nonsynonymous SNV Q368R 0 0.005 0 0 0 2 0 0 0 0 0 0 4.957 267846 chr5 54558512 54558521 TGGGTGTACT - DHX29 Q1204Hfs*4 0.003 0 0 0 4 0 0 0 0 0 0 0 267847 chr19 36335123 36335123 G T NPHS1 Synonymous SNV I698I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 267848 chr5 14713681 14713681 C T rs112513380 ANKH Nonsynonymous SNV A413T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.67 267849 chr19 36269475 36269475 C T rs35902249 ARHGAP33 Nonsynonymous SNV P127L 0 0 0 2 0 0 0.005 0 0 0 0 0 31 267850 chr19 37880774 37880774 C T rs200322627 ZNF527 Nonsynonymous SNV T608M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.37 267851 chr5 150415196 150415196 G A rs2287719 TNIP1 Synonymous SNV L437L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 267852 chr5 150429444 150429444 G A rs117663772 TNIP1 Nonsynonymous SNV R210W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 267853 chr5 151202360 151202360 G A rs62636580 GLRA1 Synonymous SNV F325F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.288 267854 chr19 37880775 37880775 G A rs779034783 ZNF527 Synonymous SNV T608T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.855 267855 chr5 154065369 154065369 - T rs199839137 MIR1303 0 0 0.003 0 0 0 0 1 0 0 0 0 267856 chr19 40540418 40540418 C G rs763959318 ZNF780B Nonsynonymous SNV C783S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.1 267857 chr19 40901223 40901223 G A rs767439555 PRX Synonymous SNV A1012A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.881 267858 chr19 41089337 41089337 G T rs377642984 SHKBP1 Nonsynonymous SNV A332S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 267859 chr19 39915563 39915563 C T rs755317221 PLEKHG2 Nonsynonymous SNV P1264S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.82 267860 chr19 41925154 41925154 G A BCKDHA Nonsynonymous SNV R200H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 267861 chr19 40366368 40366368 G A rs151261300 FCGBP Synonymous SNV D4622D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.087 267862 chr7 107217775 107217775 G A rs773513537 DUS4L Nonsynonymous SNV G242R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 267863 chr5 176733532 176733532 G A rs201616411 PRELID1 Synonymous SNV A196A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.83 267864 chr19 40909663 40909663 C T rs751441856 PRX Nonsynonymous SNV R45Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 26.4 267865 chr5 176919670 176919670 A G rs369759600 PDLIM7 Synonymous SNV P35P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.91 267866 chr19 41239102 41239102 C T rs751472434 ITPKC Nonsynonymous SNV R503C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 267867 chr7 128490975 128490975 G A rs779185071 FLNC Synonymous SNV K1806K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.54 267868 chr5 1879669 1879671 CCT - rs200684951 IRX4 E228del 0 0 0.003 0 0 0 0 1 0 0 0 0 267869 chr6 106960613 106960613 C A rs550516184 CRYBG1 Nonsynonymous SNV P133T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.87 267870 chr5 35861027 35861027 G T rs768814999 IL7R Nonsynonymous SNV Q52H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.112 267871 chr5 35861028 35861028 C T rs779308643 IL7R Nonsynonymous SNV H53Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.8 267872 chr19 46265033 46265033 A T rs139931380 BHMG1 Nonsynonymous SNV N448Y 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.18 267873 chr5 35988589 35988589 C - rs757866159 UGT3A1 T54Lfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 267874 chr19 45899462 45899462 C T rs201161129 PPP1R13L Synonymous SNV R289R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.92 267875 chr6 117888061 117888061 C T GOPC Nonsynonymous SNV G397D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 267876 chr19 46520072 46520072 C T rs955223024 CCDC61 Synonymous SNV S404S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.72 267877 chr5 55248110 55248110 G A rs768006329 IL6ST Nonsynonymous SNV P175L 0 0 0.003 0 0 0 0 1 0 0 0 0 21 267878 chr7 128484143 128484143 G A FLNC Synonymous SNV S1005S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.36 267879 chr6 131923377 131923377 A G rs770228931 MED23 Synonymous SNV A692A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 267880 chr7 143702008 143702008 G T rs142237296 OR6B1 Nonsynonymous SNV A307S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.744 267881 chr6 132874658 132874658 A C rs541224641 TAAR8 Nonsynonymous SNV D276A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.041 267882 chr7 148508780 148508780 G C rs61732846 EZH2 Synonymous SNV G572G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.531 267883 chr5 68588154 68588154 G C rs757530927 CCDC125 Stop gain Y320X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 267884 chr19 49950649 49950649 C T rs961067131 PIH1D1 Nonsynonymous SNV R186Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 267885 chr7 4839063 4839063 C T rs377481818 RADIL Synonymous SNV A1058A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.18 267886 chr19 49107039 49107039 G T rs201027346 FAM83E Synonymous SNV P296P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.051 267887 chr6 137466879 137466879 G A rs761897135 IL22RA2 Nonsynonymous SNV A193V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.982 267888 chr5 70845420 70845420 A G rs755130824 BDP1 Nonsynonymous SNV R2328G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 267889 chr19 49851971 49851971 C T rs773982099 TEAD2 Nonsynonymous SNV A245T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.83 267890 chr6 143074637 143074637 G T rs200158792 HIVEP2 Nonsynonymous SNV N2316K 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 267891 chr6 150039336 150039336 C T LOC645967 0.002 0 0 0 2 0 0 0 0 0 0 0 8.169 267892 chr6 158464403 158464403 C T rs200593132 SYNJ2 Nonsynonymous SNV P19L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 267893 chr5 89802444 89802444 G A rs140910392 POLR3G Nonsynonymous SNV D180N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 267894 chr5 89986832 89986832 G A rs201528839 ADGRV1 Nonsynonymous SNV A2309T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 267895 chr5 90079706 90079706 G A rs139281300 ADGRV1 Synonymous SNV A4495A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 267896 chr5 90079811 90079811 C A rs41311745 ADGRV1 Synonymous SNV P4530P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 267897 chr5 94990067 94990067 T C rs200861427 RFESD Nonsynonymous SNV I69T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 267898 chr7 92062707 92062708 AA - TMBIM7P 0 0.005 0 1 0 2 0.003 0 0 0 0 0 267899 chr19 54823844 54823844 G A rs143927346 LILRA5 Synonymous SNV D17D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.978 267900 chr19 54848735 54848735 G A rs76682105 LILRA4 Synonymous SNV Y296Y 0.003 0 0.003 0 4 0 0 1 0 0 0 0 2.198 267901 chr14 103597487 103597487 G A TNFAIP2 Nonsynonymous SNV R433Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 267902 chr19 55753004 55753004 G A rs370628730 PPP6R1 Synonymous SNV S283S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.885 267903 chr6 26158583 26158583 C T rs370013454 H2BC5 Synonymous SNV I62I 0.003 0 0 0 4 0 0 0 0 0 0 0 15.72 267904 chr19 55998056 55998056 T C rs779563948 NAT14 Synonymous SNV N118N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 267905 chr7 4823883 4823883 C T rs201862383 AP5Z1 Nonsynonymous SNV T68M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.5 267906 chr19 56466477 56466477 C A NLRP8 Synonymous SNV L351L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.05 267907 chr6 137332461 137332461 G A rs749033134 IL20RA Nonsynonymous SNV T69I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 267908 chr6 35755681 35755681 G A rs746478457 CLPSL1 Nonsynonymous SNV R87Q 0.003 0 0 0 4 0 0 0 0 0 0 0 0.002 267909 chr8 144512536 144512536 C T rs755736896 MAFA Nonsynonymous SNV S14N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 267910 chr6 3850495 3850495 C T FAM50B Synonymous SNV T150T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.49 267911 chr19 58265995 58265995 A G rs756327747 ZNF776 Synonymous SNV Q499Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 267912 chr7 766907 766907 C A rs878855039 DNAAF5 Nonsynonymous SNV R184S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.7 267913 chr6 159185756 159185756 C T rs774590724 MIR3918 0 0 0.003 0 0 0 0 1 0 0 0 0 5.002 267914 chr6 161560624 161560624 G A rs370713321 AGPAT4 Nonsynonymous SNV T291M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 267915 chr20 1538242 1538242 - C rs757242767 SIRPD Frameshift insertion L20Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 267916 chr20 2384433 2384433 C T rs770145628 TGM6 Nonsynonymous SNV R434C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 267917 chr20 3171311 3171311 T G DDRGK1 Nonsynonymous SNV Q311H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 267918 chr20 3765893 3765895 TCC - rs545901224 CENPB E419del 0.001 0 0 0 1 0 0 0 0 0 0 0 267919 chr20 3686450 3686450 C T rs373787879 SIGLEC1 Nonsynonymous SNV R216H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.813 267920 chr6 54805921 54805921 G C rs143165363 FAM83B Nonsynonymous SNV E718Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.425 267921 chr20 18296080 18296080 C T rs144953543 ZNF133 Synonymous SNV N176N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 267922 chr20 17462667 17462667 G T rs1044641325 PCSK2 Synonymous SNV L588L 0.003 0 0 0 3 0 0 0 0 0 0 0 5.228 267923 chr8 10623031 10623031 G T rs563513269 PINX1 Nonsynonymous SNV F289L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 267924 chr8 10623214 10623214 G C rs17152322 PINX1 Synonymous SNV L228L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.025 267925 chr8 10623289 10623289 A G rs17152329 PINX1 Synonymous SNV S203S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 267926 chr6 27925903 27925903 G A rs141873242 OR2B6 Synonymous SNV K295K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.126 267927 chr6 28097384 28097384 C T rs200631257 ZSCAN16 Stop gain R235X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 267928 chr6 76660365 76660365 G A rs142123216 IMPG1 Nonsynonymous SNV R502C 0.004 0 0 0 5 0 0 0 0 0 0 0 34 267929 chr20 20340861 20340861 A C rs779533451 CFAP61 Nonsynonymous SNV D1174A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.094 267930 chr8 30694564 30694564 G T rs143926283 TEX15 Nonsynonymous SNV T3079K 0 0 0 1 0 0 0.003 0 0 0 0 0 24 267931 chr8 145773082 145773082 G A rs374955831 ARHGAP39 Nonsynonymous SNV T463M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.94 267932 chr15 60850439 60850439 A T RORA Synonymous SNV V68V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.255 267933 chr6 39159237 39159237 T C KCNK5 Nonsynonymous SNV K310R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 267934 chr20 39978715 39978715 C T rs187105573 LPIN3 Synonymous SNV P261P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 267935 chr8 134487996 134487996 G A rs151164719 ST3GAL1 Nonsynonymous SNV A91V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.436 267936 chr6 44122554 44122554 C T rs189153353 TMEM63B Synonymous SNV D811D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.56 267937 chr6 45922935 45922935 C T rs781677091 CLIC5 Nonsynonymous SNV R196H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 267938 chr8 24324503 24324532 TGAGTACTTTATTATTATCTTTACCCCAAA - rs559607040 ADAM7 0.001 0.003 0 0 1 1 0 0 0 0 0 0 267939 chr20 44422596 44422596 A T DNTTIP1 Synonymous SNV R71R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.221 267940 chr8 144464088 144464088 G A rs61998230 RHPN1 Nonsynonymous SNV A583T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 267941 chr15 77472997 77472997 T C rs201728159 PEAK1 Synonymous SNV K424K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 267942 chr15 77750775 77750775 C T rs61755712 HMG20A Nonsynonymous SNV T9I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.11 267943 chr8 144789114 144789114 C T CCDC166 Nonsynonymous SNV R357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 267944 chr20 55093182 55093182 C T rs149969696 RTF2 Nonsynonymous SNV P260L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.229 267945 chr20 57280566 57280566 C T rs557544759 STX16-NPEPL1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.179 267946 chr8 41525947 41525947 G A rs146227434 ANK1 Synonymous SNV P1744P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.527 267947 chr20 57767560 57767560 G A rs755204091 ZNF831 Nonsynonymous SNV V496M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.72 267948 chr6 71665718 71665718 G A rs758276244 B3GAT2 Nonsynonymous SNV H139Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 267949 chr6 7373406 7373406 T C rs142041363 CAGE1 Nonsynonymous SNV Q413R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 267950 chr6 7374183 7374183 T C rs148511680 CAGE1 Nonsynonymous SNV E154G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 267951 chr8 145583707 145583707 C T rs74370046 SLC52A2 Synonymous SNV L185L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.458 267952 chr8 71570087 71570087 C T rs138349014 LACTB2 Nonsynonymous SNV R106Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 267953 chr15 89866703 89866703 G A rs780723692 POLG Nonsynonymous SNV H733Y 0.003 0.005 0 0 4 2 0 0 0 0 0 0 Uncertain significance 23.2 267954 chr6 87865361 87865361 T C ZNF292 Nonsynonymous SNV C18R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 267955 chr20 62707975 62707975 G C rs138539292 RGS19 Nonsynonymous SNV R19G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 267956 chr21 31538756 31538756 G C rs369668256 CLDN17 Synonymous SNV V60V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.577 267957 chr21 33642768 33642768 A G rs757458768 MIS18A Synonymous SNV N158N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 267958 chr7 127014333 127014333 C G rs201045490 ZNF800 Nonsynonymous SNV E353Q 0.003 0 0 0 3 0 0 0 0 0 0 0 18.19 267959 chr8 22459522 22459522 C T rs147143680 C8orf58 Nonsynonymous SNV P232L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.162 267960 chr8 145134902 145134902 T C EXOSC4 Synonymous SNV Y76Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.063 267961 chr8 23056897 23056897 A G rs764151190 TNFRSF10A Nonsynonymous SNV I299T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 267962 chr7 133986817 133986817 C G rs746691807 SLC35B4 Synonymous SNV G130G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.823 267963 chr7 100552651 100552651 C T rs544197574 MUC3A Nonsynonymous SNV P1078S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 267964 chr21 40568476 40568476 A G rs141324249 BRWD1 Synonymous SNV N2173N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.349 267965 chr8 27650324 27650324 A C rs143530690 ESCO2 Nonsynonymous SNV K498T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 267966 chr9 113431191 113431191 G A rs762340994 MUSK Nonsynonymous SNV E3K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 267967 chr7 138738735 138738735 G A ZC3HAV1 Nonsynonymous SNV S887L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 267968 chr7 102782077 102782077 G A rs796614594 RPL19P12 0 0 0.003 0 0 0 0 1 0 0 0 0 0.509 267969 chr21 45711080 45711080 C T rs74162063 AIRE Nonsynonymous SNV R328W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 28.3 267970 chr8 441640 441643 ACTG - TDRP Stop gain Q176* 0.001 0 0 0 1 0 0 0 0 0 0 0 267971 chr21 47545730 47545730 C T rs886042174 COL6A2 Synonymous SNV H667H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.81 267972 chr7 150693527 150693527 C G NOS3 Synonymous SNV S102S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.85 267973 chr8 77764988 77764988 A G rs563202863 ZFHX4 Nonsynonymous SNV D1944G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 267974 chr7 132409536 132409536 G A rs190704026 FLJ40288 0 0 0.003 0 0 0 0 1 0 0 0 0 0.837 267975 chr8 87641249 87641249 C A CNGB3 Nonsynonymous SNV D460Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 267976 chr22 17451064 17451064 C G rs374896102 GAB4 Nonsynonymous SNV G236R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.81 267977 chr22 17590373 17590373 T C rs574409116 IL17RA Nonsynonymous SNV L721P 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Likely benign 23.3 267978 chr7 138978089 138978089 G T rs371901292 UBN2 Nonsynonymous SNV V1261F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 267979 chr22 18300757 18300757 C T rs200812565 MICAL3 Nonsynonymous SNV R1557H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.926 267980 chr22 18609258 18609258 C T TUBA8 Synonymous SNV I105I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 267981 chr22 20918916 20918927 CAGCAGCAGCAG - rs771044583 MED15 Q144_Q147del 0.001 0 0 0 1 0 0 0 0 0 0 0 267982 chr16 16208781 16208781 C T ABCC1 Synonymous SNV L1080L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 267983 chr22 21380181 21380181 C G P2RX6 Nonsynonymous SNV P171R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.52 267984 chr7 14775782 14775782 G A DGKB Nonsynonymous SNV T62I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 267985 chr22 25150066 25150066 T C rs1041524921 PIWIL3 Nonsynonymous SNV I298V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 267986 chr7 2959200 2959200 C T rs763092414 CARD11 Synonymous SNV S772S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.55 267987 chr7 150501544 150501544 T A TMEM176A Nonsynonymous SNV M217K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 267988 chr22 29141917 29141917 A G rs17884212 HSCB Nonsynonymous SNV I7M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.363 267989 chr22 29533553 29533553 C T rs74467980 KREMEN1 Synonymous SNV H285H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 13.35 267990 chr7 150884574 150884574 C T rs191107003 ASB10 Nonsynonymous SNV R79Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.637 267991 chr22 30163537 30163537 - AA rs749795682 UQCR10 Frameshift insertion V51Kfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 267992 chr22 30163538 30163538 - CTGTGGAAACACATCAAGCACAAGTA rs760862598 UQCR10, UQCR10 Frameshift insertion V51Afs*10 0.002 0 0 0 2 0 0 0 0 0 0 0 267993 chr7 155538257 155538257 C T RBM33 Synonymous SNV H980H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.726 267994 chr7 157985025 157985025 G A rs146458308 PTPRN2 Synonymous SNV P143P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.482 267995 chr7 19156486 19156486 G C rs761081705 TWIST1 Synonymous SNV A153A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.62 267996 chr22 37328837 37328837 C A CSF2RB Nonsynonymous SNV T348N 0 0 0 1 0 0 0.003 0 0 0 0 0 17 267997 chr7 47853053 47853053 C T rs137923604 C7orf69 0.002 0 0 0 2 0 0 0 0 0 0 0 0.264 267998 chr22 37578329 37578329 C - C1QTNF6 V246Cfs*107 0 0 0 2 0 0 0.005 0 0 0 0 0 267999 chr9 5066786 5066786 C T rs78729673 JAK2 Synonymous SNV V292V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 18.97 268000 chr9 5185540 5185540 A T rs139449042 INSL6 Synonymous SNV R21R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 268001 chr9 5233856 5233856 T G rs78396651 INSL4 Synonymous SNV T133T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.354 268002 chr7 30100546 30100546 T A PLEKHA8 Synonymous SNV V193V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 268003 chr22 38382162 38382162 G T rs765897176 POLR2F Nonsynonymous SNV A99S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 268004 chr7 30491693 30491693 C T rs2975634 NOD1 Nonsynonymous SNV R447H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.2 268005 chr7 30492142 30492142 G A rs3020208 NOD1 Synonymous SNV R297R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.076 268006 chr7 32997248 32997248 C T rs775923992 FKBP9 Synonymous SNV T21T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 268007 chr22 41969738 41969738 - C CSDC2 Frameshift insertion E88Rfs*13 0 0 0 2 0 0 0.005 0 0 0 0 0 268008 chr9 130710489 130710489 G A rs144841491 FAM102A Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 268009 chr7 64167666 64167666 C T rs376350739 ZNF107 Synonymous SNV Y365Y 0.002 0 0 0 2 0 0 0 0 0 0 0 2.96 268010 chr22 43089930 43089930 G A rs564938247 A4GALT Nonsynonymous SNV R10W 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 268011 chr7 64438817 64438817 T C ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV T378A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 268012 chr7 43548903 43548903 A T LUARIS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.511 268013 chr9 38068322 38068322 G T SHB Synonymous SNV R107R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 268014 chr9 38396029 38396029 G A rs376279920 ALDH1B1 Nonsynonymous SNV R95Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 268015 chr22 50528526 50528526 C T MOV10L1 Synonymous SNV S3S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.34 268016 chrX 103495214 103495214 A C rs201963432 ESX1 Nonsynonymous SNV W306G 0 0 0 2 0 0 0.005 0 0 0 0 1 0.001 268017 chrX 103495217 103495217 G T rs573223696 ESX1 Nonsynonymous SNV P305T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.476 268018 chr16 84522944 84522944 C T rs781033647 MEAK7 Nonsynonymous SNV G157R 0 0.005 0 0 0 2 0 0 0 0 0 0 19.88 268019 chr9 138387442 138387442 G A rs141771436 C9orf116 Nonsynonymous SNV S81L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 268020 chr9 139564438 139564438 G A rs750468942 EGFL7 Stop gain W129X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 268021 chr9 138713152 138713152 G A rs748021232 CAMSAP1 Stop gain R1119X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 268022 chr9 139757871 139757871 T C EDF1 Nonsynonymous SNV I54V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.475 268023 chr16 88792697 88792697 G A rs988651976 PIEZO1 Synonymous SNV A1321A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.791 268024 chrX 43656509 43656509 C A rs143909840 MAOB Nonsynonymous SNV A161S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 268025 chr9 139911562 139911562 C T rs149292740 ABCA2 Synonymous SNV T856T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.355 268026 chrX 24732784 24732784 G T rs753155937 POLA1 Nonsynonymous SNV D154Y 0 0 0 3 0 0 0.008 0 0 0 0 1 31 268027 chr9 140127055 140127055 C T rs140559114 SLC34A3 Synonymous SNV R68R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.99 268028 chrX 49854970 49854970 C T rs782515769 CLCN5 Nonsynonymous SNV H578Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 268029 chrX 67741241 67741241 T C rs140077619 YIPF6 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.587 268030 chrX 49597222 49597222 T C PAGE4 Synonymous SNV P87P 0 0 0 2 0 0 0.005 0 0 0 0 1 0.051 268031 chr9 2717901 2717901 C T rs200742696 KCNV2 Synonymous SNV Y54Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.806 268032 chr9 32634743 32634743 G A rs765406541 TAF1L Nonsynonymous SNV R279W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 268033 chr8 110394792 110394792 A G PKHD1L1 Nonsynonymous SNV T137A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.833 268034 chr9 34257734 34257734 G A KIF24 Nonsynonymous SNV P624L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 268035 chr8 11058540 11058540 G A XKR6 Synonymous SNV A103A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.529 268036 chr9 35661092 35661092 A G CCDC107 Nonsynonymous SNV S254G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 268037 chr8 11414273 11414273 C T rs142623841 BLK Synonymous SNV H222H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.287 268038 chr8 134203425 134203425 C T rs149172980 CCN4 Nonsynonymous SNV T13I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 268039 chr8 125076774 125076774 C T rs754965401 FER1L6 Nonsynonymous SNV T1172I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.315 268040 chr1 881588 881588 G A rs145695271 NOC2L Nonsynonymous SNV R628W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 268041 chr9 6014717 6014717 A C rs370481663 RANBP6 Synonymous SNV T297T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 268042 chr8 128959869 128959869 C T rs776687481 TMEM75 0 0 0.003 0 0 0 0 1 0 0 0 0 19.28 268043 chr8 133141822 133141822 G T rs114095081 KCNQ3 Nonsynonymous SNV P649H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 22.4 268044 chr8 139642978 139642978 A G rs749241897 COL22A1 Nonsynonymous SNV I1208T 0 0 0.01 0 0 0 0 3 0 0 0 0 11.89 268045 chr10 115368200 115368200 C T rs376619278 NRAP Synonymous SNV A1189A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 268046 chr8 142190912 142190912 A G rs777221172 DENND3 Nonsynonymous SNV E968G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 268047 chr8 142227274 142227274 C T rs762893549 SLC45A4 Synonymous SNV S497S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 268048 chrX 37953548 37953548 G A rs202086210 SYTL5 Nonsynonymous SNV E278K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.75 268049 chr8 144942490 144942490 C T EPPK1 Synonymous SNV S1644S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.318 268050 chr8 145165424 145165424 G A WDR97 Nonsynonymous SNV G675D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 268051 chr1 5940295 5940295 G A rs549982601 NPHP4 Synonymous SNV H318H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 2.664 268052 chr9 95610283 95610283 C T rs10992490 ZNF484 Synonymous SNV P226P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 268053 chr10 12214777 12214777 C T rs765159821 NUDT5 Synonymous SNV P158P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 268054 chrX 69370144 69370144 G A rs770539359 IGBP1 Synonymous SNV P189P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.15 268055 chr10 124248462 124248462 G T rs781563777 HTRA1 Nonsynonymous SNV A173S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 30 268056 chr10 134008470 134008470 T C rs773965679 DPYSL4 Synonymous SNV H145H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.955 268057 chrX 139865954 139865971 GTCTTCCAGAAAATCCAT - rs747072025 CDR1 W191_F196del 0.001 0 0 0 1 0 0 0 0 0 0 0 268058 chr1 17714971 17714971 G T PADI6 Nonsynonymous SNV V259F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.34 268059 chr8 22476768 22476768 G A rs202099882 CCAR2 Nonsynonymous SNV R875Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 268060 chr8 22853393 22853393 G A rs562008303 RHOBTB2 Synonymous SNV A3A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.969 268061 chrX 153135614 153135614 G A L1CAM Synonymous SNV T291T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 268062 chrX 15364158 15364158 - T PIR-FIGF 0.001 0 0 2 1 0 0.005 0 0 0 0 1 268063 chr1 21043989 21043989 T A KIF17 Nonsynonymous SNV I71F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 268064 chr8 38645093 38645093 C G rs561876380 TACC1 Nonsynonymous SNV A14G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.2 268065 chr1 21586863 21586863 G A ECE1 Synonymous SNV S160S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 268066 chr8 41790755 41790755 - GGCTGTGGCTGCTGT rs750049486 KAT6A P1661_P1662insQQPQP 0.003 0 0 0 3 0 0 0 0 0 0 0 268067 chr8 30973930 30973930 A G WRN Synonymous SNV Q778Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.743 268068 chr8 33371087 33371087 C T rs369702048 SNORD13 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 268069 chrX 47435625 47435625 G A rs191822319 SYN1 Synonymous SNV L355L 0.001 0.005 0 2 1 2 0.005 0 0 1 0 1 Likely benign 2.275 268070 chr8 36642002 36642002 C T rs112216721 KCNU1 Nonsynonymous SNV A25V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 268071 chr8 36673200 36673200 A C rs115248021 KCNU1 Synonymous SNV G330G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.024 268072 chr10 26849710 26849710 C T APBB1IP Nonsynonymous SNV L436F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 268073 chr17 37627258 37627258 T C rs367868824 CDK12 Synonymous SNV L391L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.324 268074 chr8 62475356 62475356 C G ASPH Nonsynonymous SNV V433L 0.003 0 0 0 3 0 0 0 0 0 0 0 27.2 268075 chr8 6266833 6266833 A G rs752855605 MCPH1 Nonsynonymous SNV N19S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.672 268076 chr17 37885786 37885786 C T rs373770547 MIEN1 Nonsynonymous SNV V113I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.32 268077 chr10 35897350 35897350 C G GJD4 Nonsynonymous SNV S303R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 268078 chr8 41790008 41790008 A G rs144084994 KAT6A Synonymous SNV N1910N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.007 268079 chr8 41790425 41790425 A G rs568223536 KAT6A Synonymous SNV Y1771Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 268080 chr8 6420364 6420364 T C rs757263150 ANGPT2 Nonsynonymous SNV K31R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.048 268081 chr10 12856256 12856256 A G CAMK1D Nonsynonymous SNV K235R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 268082 chrX 48925530 48925530 C T CCDC120 Nonsynonymous SNV A627V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 268083 chrX 53566688 53566688 G A HUWE1 Synonymous SNV D3854D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.747 268084 chrX 69366608 69366608 T C rs61755732 IGBP1 Nonsynonymous SNV I203T 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign/Likely benign 12.36 268085 chr1 31883249 31883249 G A rs540475475 SERINC2 Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.582 268086 chr8 87679180 87679180 G T CNGB3 Synonymous SNV L275L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.479 268087 chr1 32279561 32279561 G A rs774631344 SPOCD1 Synonymous SNV C458C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.586 268088 chr8 94784818 94784818 G C rs202036490 TMEM67 Nonsynonymous SNV G218A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.1 268089 chr8 94793190 94793190 A T rs111619594 TMEM67 Nonsynonymous SNV S320C 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 268090 chr8 95750616 95750616 C T rs772631491 DPY19L4 Nonsynonymous SNV T91M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 268091 chr9 102590422 102590422 C G NR4A3 Nonsynonymous SNV P33R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 268092 chr10 105238576 105238576 G A CALHM3 Nonsynonymous SNV R72W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 268093 chr10 70451547 70451547 G A rs62638663 TET1 Synonymous SNV A2129A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.29 268094 chr17 40717967 40717967 C T COASY Nonsynonymous SNV T559I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.38 268095 chr10 70644705 70644705 G A rs200117499 STOX1 Nonsynonymous SNV E385K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 268096 chr10 46999389 46999389 C G GPRIN2 Nonsynonymous SNV A170G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 268097 chr10 112541052 112541052 T A RBM20 Nonsynonymous SNV Y229N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 268098 chr9 111624980 111624980 C T rs141022050 ACTL7A Synonymous SNV N126N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.495 268099 chr9 114500751 114500751 T G SHOC1 Nonsynonymous SNV K306T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.424 268100 chr10 45473272 45473272 T C DEPP1 Synonymous SNV P69P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.178 268101 chr10 45956825 45956825 G T rs148145718 MARCHF8 Nonsynonymous SNV L93M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 268102 chr9 115936827 115936827 G A rs376721902 FKBP15 Nonsynonymous SNV R754C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 268103 chr1 46650660 46650660 C T rs201800369 TSPAN1 Nonsynonymous SNV T156M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 268104 chr9 117139045 117139045 T G AKNA Nonsynonymous SNV K229Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.28 268105 chr9 117139046 117139046 G T rs771762554 AKNA Synonymous SNV P228P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.674 268106 chr10 76788299 76788299 C G rs147746065 KAT6B Synonymous SNV P458P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.53 268107 chr10 76859039 76859039 - A rs751581298 DUSP13 Frameshift insertion G53Wfs*20 0 0 0 1 0 0 0.003 0 0 0 0 0 268108 chr10 76859041 76859041 G A rs763131823 DUSP13 Nonsynonymous SNV S52F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.13 268109 chr10 47000213 47000213 C T rs201166086 GPRIN2 Nonsynonymous SNV R445W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 268110 chr10 47087149 47087149 C T rs782208353 NPY4R, NPY4R2 Synonymous SNV C122C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.58 268111 chr1 47903915 47903915 G C rs578093538 FOXD2 Synonymous SNV G36G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.116 268112 chr10 49658631 49658631 C G ARHGAP22 Nonsynonymous SNV G424A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 268113 chr9 117187394 117187394 C T rs114621936 WHRN Synonymous SNV L8L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.872 268114 chr9 117568219 117568219 C T rs150191342 TNFSF15 Nonsynonymous SNV R25K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.24 268115 chr10 124595726 124595726 C T rs201994934 CUZD1 Nonsynonymous SNV V320I 0.003 0 0 0 3 0 0 0 0 0 0 0 6.58 268116 chr10 50819780 50819780 C T SLC18A3 Synonymous SNV L332L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 268117 chr1 57173241 57173241 - A PRKAA2 Frameshift insertion T506Nfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 268118 chr1 57173244 57173244 C T PRKAA2 Nonsynonymous SNV T506I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.89 268119 chr9 131183174 131183174 C G rs978439013 CERCAM Synonymous SNV A6A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 268120 chr9 131940123 131940123 T C IER5L Nonsynonymous SNV H70R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.63 268121 chr17 72527472 72527472 A G CD300LB Synonymous SNV A6A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.723 268122 chr17 72613422 72613422 G A CD300E Nonsynonymous SNV R75C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 268123 chr10 19616589 19616589 G A rs778174694 MALRD1 Nonsynonymous SNV R1225H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 268124 chr9 139252627 139252627 C T rs371538279 GPSM1 Synonymous SNV G152G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 268125 chr1 109740234 109740234 G A rs368749313 KIAA1324 Nonsynonymous SNV G416R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 268126 chr9 140128118 140128118 G A rs148072630 SLC34A3 Nonsynonymous SNV G264S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.76 268127 chr1 110740117 110740117 A G SLC6A17 Nonsynonymous SNV M571V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 268128 chr9 140328209 140328209 G A NOXA1 Nonsynonymous SNV A302T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 268129 chr1 114267441 114267441 A G rs199685744 PHTF1 Nonsynonymous SNV I188T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.935 268130 chr9 15189719 15189719 G A rs80193490 TTC39B Nonsynonymous SNV R393C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.84 268131 chr9 15191209 15191209 A G rs74818741 TTC39B Synonymous SNV F256F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.003 268132 chr9 15744440 15744440 C T rs187621500 CCDC171 Nonsynonymous SNV P748L 0 0 0.003 0 0 0 0 1 0 0 0 0 30 268133 chr9 19336407 19336407 T C rs35046772 DENND4C Nonsynonymous SNV I910T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.803 268134 chr9 27055614 27055614 A G rs764366835 IFT74 Synonymous SNV Q447Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 268135 chr10 73051260 73051260 G A rs536140852 UNC5B Nonsynonymous SNV V445M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.944 268136 chr9 27212796 27212796 T C rs758497237 TEK Synonymous SNV F778F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.042 268137 chr9 27294314 27294314 C G rs367715092 EQTN Nonsynonymous SNV G97R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.187 268138 chr9 35561913 35561920 CCCACCCT - rs143266743 FAM166B E289Gfs*11 0 0 0.007 0 0 0 0 2 0 0 1 0 268139 chr10 61014189 61014189 G T FAM13C Nonsynonymous SNV D319E 0.002 0 0 0 2 0 0 0 0 0 0 0 17.35 268140 chr9 37327811 37327811 T - ZCCHC7 W323Gfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 268141 chr11 119228934 119228934 C T rs961844319 USP2 Synonymous SNV S179S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 268142 chr10 70446265 70446265 G A TET1 Synonymous SNV E1735E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.398 268143 chr10 70645513 70645513 C G STOX1 Nonsynonymous SNV S654C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 268144 chr9 69002277 69002277 T C rs527861335 MIR1299 0 0 0.003 0 0 0 0 1 0 0 0 0 2.755 268145 chr9 711062 711064 ACA - rs751846768 KANK1 N100del 0 0 0.007 0 0 0 0 2 0 0 0 0 268146 chr11 121000704 121000704 C T rs139132568 TECTA Nonsynonymous SNV R909C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 268147 chr9 6610208 6610208 G C rs142181803 GLDC Nonsynonymous SNV L207V 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 268148 chr1 156499989 156499989 G A rs374144760 IQGAP3 Nonsynonymous SNV R1438W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 268149 chr10 73461896 73461896 A G CDH23 Nonsynonymous SNV M839V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.87 268150 chr10 91404656 91404656 G A rs768951025 PANK1 Nonsynonymous SNV A135V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.9 268151 chr1 156948127 156948127 T C rs141941706 ARHGEF11 Nonsynonymous SNV M127V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 268152 chr11 104915223 104915223 A G rs201870366 CARD16 Nonsynonymous SNV L57S 0.002 0.003 0 3 2 1 0.008 0 0 0 0 0 23.3 268153 chr10 8115943 8115943 T G GATA3 Nonsynonymous SNV F431C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 268154 chr9 98783032 98783032 T C rs576913003 LINC00092 0 0 0.007 0 0 0 0 2 0 0 0 0 3.794 268155 chrM 1440 1440 G A RNR1 0 0 0.02 0 0 0 0 6 0 0 3 0 268156 chrM 953 953 G A RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 268157 chrUn_gl000220 122141 122141 - TCCTCCTCCTCC LOC100507412 0 0 0.007 0 0 0 0 2 0 0 0 0 268158 chr11 129814838 129814838 T C rs745714596 PRDM10 Nonsynonymous SNV N111S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 268159 chr11 130771702 130771702 A G SNX19 Nonsynonymous SNV L871S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.974 268160 chrX 138529525 138529525 T G rs1032407181 SRD5A1P1 0 0 0.007 0 0 0 0 2 0 0 1 0 7.502 268161 chr11 117695373 117695373 G A rs371012665 FXYD2 Synonymous SNV D7D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.837 268162 chrX 109919491 109919491 A G rs200366092 CHRDL1 Nonsynonymous SNV Y369H 0.002 0 0.007 0 2 0 0 2 0 0 1 0 Benign 23.9 268163 chr11 18354666 18354666 G A GTF2H1 Synonymous SNV V15V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.85 268164 chr1 169525950 169525950 C T rs748350385 F5 Nonsynonymous SNV A296T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 268165 chr10 98129999 98129999 G A rs41291626 TLL2 Synonymous SNV N912N 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Benign 10.64 268166 chrX 21857882 21857882 G C rs139020486 MBTPS2 Synonymous SNV V10V 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 7.98 268167 chr1 179965852 179965852 C T CEP350 Nonsynonymous SNV S187F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 268168 chrX 147024783 147024783 G A rs782332494 FMR1 Nonsynonymous SNV G449S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 268169 chrX 71830925 71830925 G A rs782035797 PHKA1 Stop gain R768X 0 0 0.007 0 0 0 0 2 0 0 1 0 38 268170 chr11 248947 248947 C T PSMD13 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 268171 chrX 153171711 153171711 C T rs113115774 AVPR2 Nonsynonymous SNV R251C 0.003 0 0 0 3 0 0 0 1 0 0 0 8.147 268172 chr11 10651136 10651136 G A rs201859877 MRVI1 Synonymous SNV L166L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 268173 chr11 32781665 32781665 C T rs182211530 CCDC73 Nonsynonymous SNV R42H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 268174 chr11 32956724 32956724 G A rs777418517 QSER1 Nonsynonymous SNV R1307Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 268175 chr11 33721789 33721789 A T rs937638677 C11orf91 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 268176 chr11 43421516 43421516 A G rs146742671 TTC17 Synonymous SNV L379L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.951 268177 chr10 1081311 1081311 C T rs371582760 IDI2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.942 268178 chr1 201981129 201981129 A G rs35303464 ELF3 Nonsynonymous SNV T70A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 268179 chr1 203151927 203151927 C G rs199900881 CHI3L1 Synonymous SNV L173L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.54 268180 chrX 53224644 53224644 G A rs781833188 MIR6895 0.003 0 0 0 3 0 0 0 1 0 0 0 2.86 268181 chr11 118963185 118963185 C T rs202067277 HMBS Synonymous SNV P241P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.58 268182 chr11 114270802 114270802 G T rs200546230 C11orf71 Nonsynonymous SNV S84R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 268183 chr11 114271426 114271426 T C rs142023762 RBM7 Synonymous SNV T11T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.007 268184 chrX 67942322 67942322 C T STARD8 Nonsynonymous SNV P798L 0.003 0 0 0 3 0 0 0 1 0 0 0 21.4 268185 chr11 46837932 46837932 C A rs200414400 CKAP5 Nonsynonymous SNV G92V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 268186 chr11 114453029 114453029 C T rs200052294 NXPE4 Nonsynonymous SNV E271K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 268187 chr11 114453051 114453051 T C rs113447804 NXPE4 Synonymous SNV K263K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.211 268188 chr11 114453226 114453226 G A rs112731981 NXPE4 Nonsynonymous SNV T205I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 268189 chr11 114453342 114453342 G T rs199976393 NXPE4 Nonsynonymous SNV S166R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 268190 chr11 114453517 114453517 C T rs201831822 NXPE4 Nonsynonymous SNV R108Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.661 268191 chr11 114453670 114453670 G C rs112073332 NXPE4 Nonsynonymous SNV T57R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 268192 chr11 114453742 114453742 A G rs185749351 NXPE4 Nonsynonymous SNV V33A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 268193 chrX 78216045 78216045 A G P2RY10 Nonsynonymous SNV T10A 0.003 0 0 0 4 0 0 0 1 0 0 0 0.001 268194 chr11 47862046 47862046 C T rs142325189 NUP160 Nonsynonymous SNV V137I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.16 268195 chr10 126450967 126450967 A G rs566427168 EEF1AKMT2 Synonymous SNV V181V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 268196 chr10 127787012 127787012 C T rs2290843 ADAM12 Synonymous SNV T323T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.1 268197 chr10 105209209 105209209 C T CALHM2 Nonsynonymous SNV E164K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 268198 chr11 2189347 2189347 C T rs139807727 TH Nonsynonymous SNV D184N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23 268199 chr11 123624483 123624483 C T rs369964846 OR6X1 Synonymous SNV L248L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 268200 chr11 123777885 123777886 TA - rs749976515 OR8D4 M250Vfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 268201 chr1 7897189 7897189 A G rs35072750 PER3 Nonsynonymous SNV T1177A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.19 268202 chr1 227920261 227920261 C T rs773426028 JMJD4 Synonymous SNV G392G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.931 268203 chr11 128807470 128807470 G T rs142517986 TP53AIP1 Nonsynonymous SNV Q82K 0 0 0 1 0 0 0.003 0 0 0 0 0 2.256 268204 chr11 12495366 12495366 G A rs138341373 PARVA Nonsynonymous SNV E71K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 268205 chr11 55432983 55432983 C T rs759192087 OR4C6 Nonsynonymous SNV T114I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 268206 chr1 228525659 228525659 C T rs376261083 OBSCN Synonymous SNV Y5605Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 268207 chr1 231299621 231299621 G A rs114646292 TRIM67 Synonymous SNV T302T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 268208 chr1 231830492 231830492 C T rs34622148 DISC1 Nonsynonymous SNV L330F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.8 268209 chr1 233353666 233353666 A G rs756983244 PCNX2 Synonymous SNV P890P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.773 268210 chr11 1275495 1275495 C T rs201625337 MUC5B Nonsynonymous SNV R5131C 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.932 268211 chr11 18010200 18010200 T G rs773302698 SERGEF Nonsynonymous SNV Q263P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.92 268212 chr11 45947886 45947886 G A rs374439836 LARGE2 Synonymous SNV A332A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.367 268213 chr10 32197425 32197425 G A ARHGAP12 Nonsynonymous SNV S120L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 268214 chr10 35897377 35897377 C T GJD4 Synonymous SNV G312G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 268215 chr1 20005152 20005152 G A rs141227356 HTR6 Synonymous SNV T269T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 268216 chr10 134713116 134713116 G A CFAP46 Synonymous SNV G993G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.458 268217 chr1 20141418 20141418 C A rs149641709 RNF186 Nonsynonymous SNV Q59H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 268218 chr2 1271188 1271188 C T rs374219356 SNTG2 Stop gain Q377X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 268219 chr11 44129620 44129620 G A rs115948531 EXT2 Nonsynonymous SNV V153I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.05 268220 chr10 70931022 70931022 G A rs140007940 VPS26A Nonsynonymous SNV M216I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 268221 chr2 11767171 11767171 A G rs142904474 GREB1 Nonsynonymous SNV N1464D 0.002 0 0 0 2 0 0 0 0 0 0 0 19.68 268222 chr2 16085886 16085886 G A rs201114632 MYCN Synonymous SNV A143A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.285 268223 chr10 73515216 73515216 C T rs111832632 VSIR Synonymous SNV T192T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.39 268224 chr11 58723107 58723107 C G GLYATL1 Synonymous SNV A172A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.818 268225 chr2 24406183 24406201 GTTTCAAAGACAGCAAGAG - FAM228A F65Wfs*19 0.001 0.003 0 0 1 1 0 0 0 0 0 0 268226 chr1 33772844 33772844 C T A3GALT2 Synonymous SNV A182A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.64 268227 chr11 60620224 60620224 C T rs779212415 PTGDR2 Synonymous SNV E324E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.71 268228 chr1 35570178 35570178 C T rs372486000 ZMYM1 Synonymous SNV Y130Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.589 268229 chr2 29117674 29117674 A C WDR43 Nonsynonymous SNV H37P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.65 268230 chr10 91099737 91099737 T G rs116926108 IFIT3 Nonsynonymous SNV L442R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 268231 chr11 55927091 55927091 T C OR8K5 Nonsynonymous SNV K235E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 268232 chr11 62380822 62380822 C T ROM1 Synonymous SNV L23L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.413 268233 chr11 62996948 62996948 G T rs150691466 SLC22A25 Synonymous SNV I59I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.448 268234 chr11 63067061 63067061 C T rs118081870 SLC22A10 Nonsynonymous SNV P344S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 268235 chr1 43805713 43805713 C T rs121913611 MPL Nonsynonymous SNV R257C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic 35 268236 chr10 6188383 6188383 - G rs751358483 PFKFB3 Frameshift insertion A16Gfs*12 0.002 0 0 0 2 0 0 0 0 0 0 0 268237 chr11 63676559 63676559 G A rs946414887 MARK2 Synonymous SNV T660T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 268238 chr11 63978225 63978225 C T rs375277199 FERMT3 Synonymous SNV I101I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.28 268239 chr11 64001460 64001460 C T rs770205365 DNAJC4 Nonsynonymous SNV P209S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.23 268240 chr2 38829597 38829597 - GCC rs530811880 HNRNPLL G57_R58insG 0.001 0 0 0 1 0 0 0 0 0 0 0 268241 chr2 38975726 38975726 T C rs113942879 SRSF7 Synonymous SNV G152G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 268242 chr11 64065604 64065604 C A rs144212286 KCNK4 Synonymous SNV S228S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 268243 chr11 64033360 64033360 G T rs61757725 PLCB3 Nonsynonymous SNV G946V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.924 268244 chr2 39294787 39294787 T G rs7609455 SOS1 Synonymous SNV R65R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.694 268245 chr11 64068421 64068421 A G rs150476596 CATSPERZ Nonsynonymous SNV N105S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.431 268246 chr11 64108207 64108207 C T rs78194959 CCDC88B Synonymous SNV L63L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.28 268247 chr11 64109160 64109160 G C rs79183699 CCDC88B Synonymous SNV R207R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.346 268248 chr11 64111665 64111665 C T rs79318041 CCDC88B Nonsynonymous SNV P551L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.989 268249 chr11 101454080 101454080 C T rs779060558 TRPC6 Nonsynonymous SNV G52D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 268250 chr11 64121190 64121190 C G rs80109197 CCDC88B Nonsynonymous SNV D1279E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.92 268251 chr11 64368288 64368288 T C rs200072517 SLC22A12 Synonymous SNV H384H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 268252 chr2 48713882 48713882 A G rs373267590 PPP1R21 Synonymous SNV T477T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.118 268253 chr2 51255193 51255193 C G rs201031680 NRXN1 Nonsynonymous SNV E73D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.57 268254 chr2 54081210 54081210 G A rs192894743 GPR75 Synonymous SNV T228T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.046 268255 chr2 55252554 55252554 A C RTN4 Nonsynonymous SNV V688G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 268256 chr1 53662660 53662660 G T rs761850684 CPT2 Synonymous SNV A15A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.58 268257 chr10 74894550 74894550 C T rs139138878 ECD Nonsynonymous SNV D533N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.443 268258 chr11 57077374 57077374 G A rs371856981 TNKS1BP1 Synonymous SNV L937L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.999 268259 chr11 67235539 67235539 C T rs756537578 TMEM134 Nonsynonymous SNV A67T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 268260 chr11 67816692 67816692 C T TCIRG1 Synonymous SNV I390I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 268261 chr2 74605334 74605334 G A rs368633620 DCTN1 Synonymous SNV A24A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.321 268262 chr11 6806366 6806366 T A rs200125902 OR2AG1 Nonsynonymous SNV I33N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.51 268263 chr2 80846261 80846261 A T CTNNA2 Nonsynonymous SNV I460L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 268264 chr10 99439429 99439429 C T rs374743148 AVPI1 Synonymous SNV R78R 0.003 0 0 0 4 0 0 0 0 0 0 0 17.33 268265 chr11 100169930 100169930 G A rs201711104 CNTN5 Nonsynonymous SNV G734S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 268266 chr11 77383144 77383144 G A rs779136727 RSF1 Nonsynonymous SNV R1232C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 268267 chr1 92554444 92554444 - T rs761559434 BTBD8 Frameshift insertion L115Ffs*15 0 0 0 1 0 0 0.003 0 0 0 0 0 268268 chr2 133971331 133971331 C T rs372830741 NCKAP5 Nonsynonymous SNV R55Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 268269 chr11 9517864 9517864 A G ZNF143 Synonymous SNV S229S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 268270 chr1 110009477 110009477 C A SYPL2 Synonymous SNV T4T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 268271 chr12 100711648 100711648 A G SCYL2 Nonsynonymous SNV N447S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 268272 chr11 10823635 10823635 C T rs111302442 EIF4G2 Synonymous SNV S420S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.74 268273 chr11 1298430 1298430 C T rs5744015 TOLLIP Nonsynonymous SNV A172T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 268274 chr11 111171256 111171256 A G rs528642092 COLCA2 Synonymous SNV K4K 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 268275 chr11 60070090 60070090 T C rs952763205 MS4A4A Nonsynonymous SNV L149S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 268276 chr11 1331242 1331242 C T rs116938768 TOLLIP-AS1 0 0 0.014 0 0 0 0 4 0 0 0 0 8.665 268277 chr11 133789874 133789874 C T rs765847381 IGSF9B Nonsynonymous SNV R1249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 268278 chr2 144934759 144934759 C T rs145066970 GTDC1 Stop gain W9X 0.001 0 0 0 1 0 0 0 0 0 0 0 6.317 268279 chr11 62763576 62763576 C T rs144964017 SLC22A8 Synonymous SNV S147S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.64 268280 chr2 152350705 152350705 T A NEB Nonsynonymous SNV R6327S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 268281 chr11 17390414 17390414 A C NCR3LG1 Nonsynonymous SNV E254A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.702 268282 chr1 114424409 114424409 C T rs919214476 BCL2L15 Nonsynonymous SNV G154S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 268283 chr12 109717670 109717670 A T rs373292889 FOXN4 Nonsynonymous SNV S454T 0.003 0 0 2 3 0 0.005 0 0 0 0 0 23.6 268284 chr11 61732917 61732919 TCA - FTH1 H61_E62delinsQ 0.002 0 0 0 2 0 0 0 0 0 0 0 268285 chr12 111087231 111087231 A G rs767677920 HVCN1 Nonsynonymous SNV L249P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.4 268286 chr12 112186136 112186136 G A rs932721321 ACAD10 Nonsynonymous SNV R834H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 268287 chr2 170038793 170038793 G A rs375646935 LRP2 Synonymous SNV L3294L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 268288 chr11 11986044 11986044 G A rs138336904 DKK3 Synonymous SNV A340A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.33 268289 chr11 27528433 27528433 C T rs189495137 BDNF-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 6.535 268290 chr2 172411060 172411060 C T rs144760480 CYBRD1 Nonsynonymous SNV P137L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 268291 chr11 73021908 73021908 A G ARHGEF17 Nonsynonymous SNV H742R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.183 268292 chr11 31327276 31327276 G T rs369097377 DCDC1 Synonymous SNV R214R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.442 268293 chr2 175676241 175676241 C G rs202153128 CHN1 Nonsynonymous SNV R196T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 25.1 268294 chr11 75431210 75431210 A T MOGAT2 Nonsynonymous SNV I89F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 268295 chr2 182394339 182394339 C T ITGA4 Synonymous SNV P834P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 268296 chr11 65661553 65661553 C T FOSL1 Nonsynonymous SNV E47K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 268297 chr11 68560822 68560822 G A rs760672457 CPT1A Nonsynonymous SNV R310W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 27.5 268298 chr11 85435651 85435651 G - rs558558671 SYTL2 Q1584Rfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 268299 chr11 47397251 47397251 C T rs267602905 SPI1 Synonymous SNV T26T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 268300 chr11 67800331 67800331 C T MIR7113 0.002 0 0 0 2 0 0 0 0 0 0 0 3.588 268301 chr11 93129486 93129486 T C DEUP1 Nonsynonymous SNV Y441H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.11 268302 chr11 13733550 13733550 G A rs142127632 FAR1 Nonsynonymous SNV V282I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 268303 chr2 198367974 198367974 C T rs571118024 HSPE1 Synonymous SNV Y100Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 268304 chr12 14924000 14924000 C T H4-16 Nonsynonymous SNV G7S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 268305 chr2 202123027 202123027 C A CASP8 Nonsynonymous SNV P25T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 268306 chr12 101584308 101584308 G A rs201820390 SLC5A8 Synonymous SNV Y257Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.198 268307 chr12 101777402 101777402 A G rs577369061 UTP20 Nonsynonymous SNV I2671V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.256 268308 chr2 206480532 206480532 G A rs768527488 PARD3B Nonsynonymous SNV V1136I 0.001 0 0 0 1 0 0 0 0 0 0 0 26 268309 chr1 167353115 167353115 T G POU2F1 Nonsynonymous SNV L184R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 268310 chr12 18515707 18515707 G A rs577084200 PIK3C2G Synonymous SNV A545A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.72 268311 chr12 3039512 3039512 G A rs145289428 TULP3 0.001 0 0 0 1 0 0 0 0 0 0 0 23 268312 chr11 85425467 85425467 G C SYTL2 Nonsynonymous SNV L9V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 268313 chr12 111345160 111345160 C G rs980177263 CCDC63 Nonsynonymous SNV S445R 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 23.1 268314 chr2 219754840 219754840 C T rs116998555 WNT10A Nonsynonymous SNV R171C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 268315 chr12 43826521 43826521 T G rs758824170 ADAMTS20 Nonsynonymous SNV E938D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.478 268316 chr1 178485810 178485810 G A rs569076514 TEX35 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 268317 chr2 220085866 220085866 C A rs750595006 ATG9A Synonymous SNV R768R 0.002 0 0 0 2 0 0 0 0 0 0 0 13 268318 chr1 178855172 178855172 T C RALGPS2 Nonsynonymous SNV L370P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 268319 chr11 92532002 92532002 A C FAT3 Synonymous SNV I1941I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 268320 chr1 179077404 179077404 A G rs370218976 ABL2 Nonsynonymous SNV S979P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.959 268321 chr1 180064728 180064728 G A rs369399702 CEP350 Nonsynonymous SNV R2861Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 268322 chr2 220423103 220423103 C T OBSL1 Nonsynonymous SNV R1102H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 268323 chr2 225635033 225635033 G A rs138819761 DOCK10 Synonymous SNV D2107D 0.003 0 0.003 2 3 0 0.005 1 0 0 0 0 11.78 268324 chr1 186031078 186031078 T A HMCN1 Nonsynonymous SNV F2470I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 268325 chr12 103246701 103246701 A G rs76212747 PAH Nonsynonymous SNV V245A 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 24.9 268326 chr1 186277625 186277625 G A rs142388523 PRG4 Nonsynonymous SNV R791H 0 0.003 0 3 0 1 0.008 0 0 0 0 0 11.47 268327 chr12 51591623 51591623 G T rs539576925 POU6F1 Nonsynonymous SNV T259N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 268328 chr12 12633204 12633204 G A rs61758451 DUSP16 Synonymous SNV I256I 0.002 0.003 0.003 1 2 1 0.003 1 0 0 0 0 12.7 268329 chr2 233409178 233409178 G A rs147318482 CHRNG Synonymous SNV S379S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 268330 chr12 109882334 109882334 G A rs371939709 MYO1H Nonsynonymous SNV S982N 0 0 0 1 0 0 0.003 0 0 0 0 0 30 268331 chr12 112681563 112681563 C T HECTD4 Nonsynonymous SNV R1561H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 268332 chr12 116429169 116429169 G A MED13L Nonsynonymous SNV A1197V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 268333 chr12 121622447 121622447 C T rs149170639 P2RX7 Nonsynonymous SNV R544W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 268334 chr12 55968624 55968624 G T OR2AP1 Synonymous SNV L142L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.13 268335 chr12 123089558 123089558 A G rs190591658 KNTC1 Synonymous SNV A1770A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.08 268336 chr12 129299505 129299505 G A rs774580370 SLC15A4 Synonymous SNV N219N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.45 268337 chr12 129569210 129569210 T C TMEM132D Nonsynonymous SNV K494R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 268338 chr12 6749589 6749589 G A rs376661923 ACRBP Nonsynonymous SNV R393W 0.001 0 0 0 1 0 0 0 0 0 0 0 28 268339 chr11 65212015 65212015 G A MIR612, NEAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.395 268340 chr11 65268680 65268680 G T MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.108 268341 chr11 65272125 65272125 C G rs111897520 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.427 268342 chr12 7520746 7520746 C A CD163L1 Nonsynonymous SNV V1384F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 268343 chr12 49251933 49251933 G A rs746520280 RND1 Nonsynonymous SNV T182M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 268344 chr3 27763314 27763314 C T EOMES Nonsynonymous SNV A158T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 268345 chr12 50368146 50368146 G A AQP6 Nonsynonymous SNV E148K 0 0.003 0 0 0 1 0 0 0 0 0 0 31 268346 chr3 38167101 38167101 C T rs749249005 ACAA1 Nonsynonymous SNV R292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 268347 chr3 38318526 38318526 C T rs149252089 SLC22A13 Synonymous SNV I490I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.11 268348 chr12 25673002 25673002 G A rs778508449 LMNTD1 Nonsynonymous SNV A185V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 268349 chr3 39431086 39431086 C T rs775205150 SLC25A38 Nonsynonymous SNV T57I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 268350 chr12 31850809 31850809 G A rs375739693 AMN1 Synonymous SNV V133V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.2 268351 chr12 32900292 32900292 C T rs560972647 YARS2 Nonsynonymous SNV R427Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 268352 chr12 9094515 9094515 G A rs929296762 M6PR Nonsynonymous SNV R159C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 268353 chr12 4737192 4737192 C A rs778475229 AKAP3 Synonymous SNV V292V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.203 268354 chr20 48431692 48431692 C T rs377229667 SLC9A8 Synonymous SNV S58S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.39 268355 chr11 74873752 74873752 G T SLCO2B1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 268356 chr12 49169130 49169130 G A rs770749324 ADCY6 Nonsynonymous SNV R646C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 268357 chr11 76831832 76831832 G T CAPN5 Nonsynonymous SNV R455L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 268358 chr11 76890913 76890913 C G MYO7A Nonsynonymous SNV R834G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 268359 chr13 111303424 111303424 G A rs142857490 CARS2 Synonymous SNV P337P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.936 268360 chr12 50748961 50748961 G A rs564349682 FAM186A Nonsynonymous SNV R552C 0 0 0 1 0 0 0.003 0 0 0 0 0 19 268361 chr12 52632515 52632515 G T KRT7 Nonsynonymous SNV A217S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.216 268362 chr3 49698270 49698270 G C BSN Nonsynonymous SNV D2998H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 268363 chr3 50326966 50326966 G C rs60317628 IFRD2 Nonsynonymous SNV L295V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.441 268364 chr11 59271221 59271221 C G OR4D11 Nonsynonymous SNV P58R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 268365 chr11 94732025 94732025 T G rs200720342 KDM4D Nonsynonymous SNV L497V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.149 268366 chr13 24242128 24242128 G A rs747702271 TNFRSF19 Nonsynonymous SNV R117H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.645 268367 chr11 607183 607183 A G rs200765861 PHRF1 Nonsynonymous SNV N576S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 268368 chr12 54367109 54367109 C T HOXC11 Synonymous SNV C28C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.19 268369 chr12 57111257 57111257 T G rs753570823 NACA Nonsynonymous SNV T1353P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.583 268370 chr11 62910984 62910984 G A rs556942414 SLC22A24 Nonsynonymous SNV R90C 0.002 0 0 0 2 0 0 0 0 0 0 0 24 268371 chr12 109665181 109665181 C T rs747094731 ACACB Synonymous SNV Y1296Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 268372 chr12 57892287 57892287 G A rs755505329 MARS1 Synonymous SNV E324E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 268373 chr12 88449396 88449396 C T CEP290 Nonsynonymous SNV R2306K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 268374 chr12 58156953 58156953 C T rs371735439 CYP27B1 Nonsynonymous SNV S500N 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 268375 chr13 70514280 70514280 G A KLHL1 Synonymous SNV C241C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.724 268376 chr13 72440443 72440443 A G rs551935140 DACH1 Synonymous SNV S153S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 268377 chr3 101484347 101484347 A G rs758015252 CEP97 Synonymous SNV P791P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.018 268378 chr3 101572346 101572346 C T rs775094689 NFKBIZ Nonsynonymous SNV L326F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.029 268379 chr13 77718642 77718642 T C rs367885877 MYCBP2 Nonsynonymous SNV N2414S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 268380 chr12 117287237 117287237 A G RNFT2 Nonsynonymous SNV H440R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 268381 chr3 111709599 111709599 G A rs193076366 ABHD10 0.001 0 0 0 1 0 0 0 0 0 0 0 1.003 268382 chr12 6858052 6858052 G T MLF2 Nonsynonymous SNV A219D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.107 268383 chr13 96443146 96443146 C T rs149304997 DNAJC3 Synonymous SNV D459D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.51 268384 chr13 67801586 67801586 T C PCDH9 Synonymous SNV T329T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 268385 chr12 72020184 72020184 C T rs370230357 ZFC3H1 Synonymous SNV A1391A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.71 268386 chr12 122257627 122257627 C T rs370096455 SETD1B Nonsynonymous SNV R1246W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.8 268387 chr11 6566578 6566578 G A rs780458506 DNHD1 Nonsynonymous SNV R1470H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.9 268388 chr12 75672770 75672770 A C rs138342584 CAPS2 Nonsynonymous SNV V445G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 268389 chr13 88330267 88330267 C T rs746900684 SLITRK5 Nonsynonymous SNV P875L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 268390 chr12 75824519 75824519 C T GLIPR1L2 Nonsynonymous SNV T232I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.457 268391 chr13 95157215 95157216 TT - rs201152449 DCT K19Efs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 268392 chr13 95157243 95157243 T C rs7338231 DCT Nonsynonymous SNV K10E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.439 268393 chr12 75889428 75889428 T G rs143959784 GLIPR1 Nonsynonymous SNV L202W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 268394 chr3 113955612 113955612 G A rs145218257 ZNF80 Nonsynonymous SNV P104S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.7 268395 chr3 119232517 119232517 G A rs146874731 TIMMDC1 Nonsynonymous SNV V183I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 268396 chr12 76816411 76816411 G A rs770675712 OSBPL8 Nonsynonymous SNV R8C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.25 268397 chr12 123351962 123351962 C T rs376677805 VPS37B Nonsynonymous SNV A187T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.22 268398 chr12 80014897 80014897 C T rs757225544 PAWR Nonsynonymous SNV A203T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 268399 chr12 124366286 124366286 G A rs751930117 DNAH10 Nonsynonymous SNV A2799T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 268400 chr3 121417153 121417153 G C rs371980627 GOLGB1 Nonsynonymous SNV N659K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.8 268401 chr14 103369651 103369651 C T TRAF3 Synonymous SNV F257F 0 0 0 1 0 0 0.003 0 0 0 0 0 17.23 268402 chr13 113479885 113479885 G T rs201793187 ATP11A Nonsynonymous SNV Q338H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 268403 chr12 88524054 88524054 A G rs777201814 CEP290 Synonymous SNV D220D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.913 268404 chr13 113479886 113479886 A T rs200249023 ATP11A Nonsynonymous SNV R339W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 268405 chr2 61415287 61415287 T C USP34 Nonsynonymous SNV I3531V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 268406 chr12 94972230 94972230 C G TMCC3 Nonsynonymous SNV E326D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 268407 chr3 127788409 127788409 C T rs147269024 SEC61A1 Synonymous SNV T445T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.378 268408 chr12 133779796 133779796 C T rs188300576 ZNF268 Synonymous SNV A508A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.15 268409 chr12 97078861 97078861 C T rs114833393 CFAP54 Synonymous SNV D1953D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.65 268410 chr14 105858064 105858064 C T rs782663401 PACS2 Nonsynonymous SNV P649L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 268411 chr3 128751702 128751702 C T rs778090363 EFCC1 Synonymous SNV A392A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 268412 chr12 99043451 99043451 C T rs147932236 APAF1 Nonsynonymous SNV S161F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 268413 chr13 101881803 101881803 T C rs150580612 NALCN Nonsynonymous SNV I494V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.2 268414 chr11 73829387 73829387 T A rs761207981 C2CD3 Nonsynonymous SNV D469V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 268415 chr14 21623875 21623875 C A rs111585524 OR5AU1 Nonsynonymous SNV A53S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 268416 chr13 31480676 31480676 G A rs954990902 MEDAG Synonymous SNV P8P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.74 268417 chr12 22089605 22089605 T C ABCC9 Nonsynonymous SNV S2G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.18 268418 chr13 110831377 110831377 G A rs372750171 COL4A1 Nonsynonymous SNV P784L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 268419 chr14 23467654 23467654 C T rs138499014 C14orf93 Synonymous SNV A193A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 268420 chr3 147120535 147120535 C T rs148365070 ZIC4 Nonsynonymous SNV R67Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 268421 chr13 21063592 21063592 A - rs780697962 CRYL1 S65Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 268422 chr11 7960540 7960540 A T rs764677096 OR10A3 Nonsynonymous SNV H176Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.59 268423 chr2 101183001 101183001 C T rs777385726 PDCL3 Nonsynonymous SNV R15C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 268424 chr14 23540720 23540720 T C ACIN1 Nonsynonymous SNV N11S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 268425 chr14 31647344 31647344 G A HECTD1 Nonsynonymous SNV A86V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 268426 chr3 169644859 169644859 T G rs139999001 SAMD7 Nonsynonymous SNV L270R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.561 268427 chr14 24878082 24878082 C T rs373163147 NYNRIN Nonsynonymous SNV P361L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 268428 chr3 183013100 183013100 G C MCF2L2 Nonsynonymous SNV P555A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 268429 chr22 39239687 39239687 C G rs180925984 NPTXR Synonymous SNV L59L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.442 268430 chr22 39884910 39884910 G A rs201524518 MGAT3 Nonsynonymous SNV G520R 0.004 0.003 0 0 5 1 0 0 0 0 0 0 22 268431 chr13 39263116 39263116 A G rs751968408 FREM2 Synonymous SNV V545V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.681 268432 chr11 95546640 95546640 T A CEP57 Nonsynonymous SNV S131T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 268433 chr3 183755948 183755948 T C rs140918539 HTR3D Nonsynonymous SNV V94A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 268434 chr12 10048413 10048413 A G KLRF2 Nonsynonymous SNV N202S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.784 268435 chr12 53491691 53491691 C T rs374700531 IGFBP6 Nonsynonymous SNV L64F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 268436 chr14 44974203 44974261 GCTGGTGGAGGCTGAACTTCAGCGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGC - FSCB Stop gain A644* 0 0 0 1 0 0 0.003 0 0 0 0 0 268437 chr3 192517243 192517243 G A rs201212046 MB21D2 Synonymous SNV L136L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.118 268438 chr3 194369520 194369520 A T LSG1 Nonsynonymous SNV I478N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 268439 chr13 99535344 99535344 G A rs776287236 DOCK9 Synonymous SNV T838T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 268440 chr3 195595201 195595201 A T TNK2 Nonsynonymous SNV D673E 0.002 0 0 0 2 0 0 0 0 0 0 0 16.97 268441 chr14 68249966 68249966 G A ZFYVE26 Synonymous SNV T1301T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.026 268442 chr12 66563725 66563725 C T rs369204454 TMBIM4 Nonsynonymous SNV D3N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.613 268443 chr12 66935617 66935617 G A rs759524949 GRIP1 Nonsynonymous SNV R84W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 268444 chrX 14038319 14038319 G C rs143025002 GEMIN8 Nonsynonymous SNV S117C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.152 268445 chr4 1399822 1399822 G A rs970196067 NKX1-1 Nonsynonymous SNV R137C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 268446 chr14 67812503 67812503 C T rs773508929 ATP6V1D Synonymous SNV V146V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.63 268447 chr14 68028745 68028745 G A rs780838899 PLEKHH1 Synonymous SNV A166A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.941 268448 chr4 2941018 2941018 T C NOP14 Nonsynonymous SNV R791G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 268449 chr14 72171474 72171474 T C rs1041455732 SIPA1L1 Nonsynonymous SNV F1228S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.69 268450 chr14 72202019 72202019 T C rs1023269212 SIPA1L1 Synonymous SNV A1678A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.53 268451 chr4 5966843 5966843 C G C4orf50 Nonsynonymous SNV D1216H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 268452 chr14 76249778 76249778 G A rs142169707 TTLL5 Nonsynonymous SNV R964Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 268453 chr2 182981974 182981974 - GAA PPP1R1C E98_G99insE 0 0 0 1 0 0 0.003 0 0 0 0 0 268454 chr14 21854028 21854028 T G rs866434305 CHD8 Nonsynonymous SNV H2497P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.23 268455 chr14 24648077 24648077 C T rs752794973 REC8 Synonymous SNV A385A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.72 268456 chr14 96756883 96756883 G A rs148160259 ATG2B Nonsynonymous SNV R1916W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 268457 chr2 193044374 193044374 T C rs745702382 TMEFF2 Synonymous SNV T153T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.206 268458 chr14 23992110 23992110 C T rs554292009 ZFHX2 Synonymous SNV S2260S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.64 268459 chrX 123480540 123480540 C T rs72610640 SH2D1A Synonymous SNV G16G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 15.09 268460 chr2 202216070 202216070 G A rs759419207 FLACC1 Nonsynonymous SNV R20W 0 0 0 1 0 0 0.003 0 0 0 0 0 30 268461 chrX 132160047 132160047 T G rs757939617 USP26 Nonsynonymous SNV K734N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 268462 chr12 15087870 15087870 C T rs767687494 ERP27 Nonsynonymous SNV V85M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 268463 chr15 28375310 28375310 A T rs373175587 HERC2 Nonsynonymous SNV D4267E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.678 268464 chr12 18876476 18876476 C T rs202206940 PLCZ1 Nonsynonymous SNV D46N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 268465 chr13 25745247 25745247 C T AMER2 Nonsynonymous SNV G171R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 268466 chr13 28240077 28240077 C A rs747337734 POLR1D Nonsynonymous SNV S91Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 268467 chr2 215634004 215634004 T C rs373257776 BARD1 Synonymous SNV Q430Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.622 268468 chr14 74206109 74206109 G A rs141626920 ELMSAN1 Synonymous SNV F201F 0.003 0.003 0 0 4 1 0 0 0 0 0 0 4.101 268469 chr13 33700314 33700314 G A rs1000935855 STARD13 Synonymous SNV G654G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 268470 chr15 40590897 40590897 G T PLCB2 Nonsynonymous SNV P288H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 268471 chr13 40238257 40238257 T C rs149597993 MIR4305 0 0 0.01 0 0 0 0 3 0 0 0 0 2.098 268472 chr4 76797584 76797584 G A PPEF2 Synonymous SNV S392S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.12 268473 chr13 48575385 48575385 G A rs374479008 SUCLA2 Synonymous SNV Y7Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.017 268474 chr13 49852617 49852617 A G rs139624928 CDADC1 Synonymous SNV R394R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.185 268475 chr15 43699636 43699636 T C TP53BP1 Nonsynonymous SNV E1958G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 268476 chr13 51603806 51603806 A C rs369719963 GUCY1B2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.825 268477 chr13 51603815 51603815 T C rs115476480 GUCY1B2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 268478 chr15 43701855 43701855 T C rs138398416 TP53BP1 Nonsynonymous SNV N1795S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 268479 chr15 43821529 43821529 C T rs183805091 MAP1A Nonsynonymous SNV R2620W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 268480 chr15 44176942 44176942 C T rs200347143 FRMD5 Synonymous SNV E302E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.45 268481 chr13 52952317 52952317 C G rs74888104 THSD1 Synonymous SNV A543A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.616 268482 chr4 79410108 79410108 C T rs114854941 FRAS1 Synonymous SNV S2944S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.97 268483 chr15 45660322 45660322 G A rs780300589 GATM Synonymous SNV G207G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.24 268484 chr15 45954226 45954226 C T rs772634155 SQOR Nonsynonymous SNV T103M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 268485 chr15 48626619 48626619 A G rs373184762 DUT Nonsynonymous SNV Y54C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 268486 chr15 49031280 49031280 A G rs114085678 CEP152 Synonymous SNV H1377H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.006 268487 chr13 80911237 80911237 C T rs771563312 SPRY2 Nonsynonymous SNV D202N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 268488 chr15 51250901 51250901 A G rs370418714 AP4E1 Synonymous SNV R512R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.104 268489 chr4 94376878 94376878 G A rs143454912 GRID2 Synonymous SNV T442T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 268490 chr15 54305621 54305621 A G rs752702100 UNC13C Nonsynonymous SNV H174R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.92 268491 chr4 98633882 98633882 T C STPG2 Nonsynonymous SNV K430E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 268492 chr14 103576367 103576367 G A EXOC3L4 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 268493 chr14 76966308 76966308 A T ESRRB Nonsynonymous SNV S467C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 268494 chr15 59144037 59144037 C T rs776397217 MINDY2 Nonsynonymous SNV P537L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 268495 chr14 77873944 77873944 C G NOXRED1 Nonsynonymous SNV D132H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 268496 chr14 105238783 105238783 G A rs11555434 AKT1 Synonymous SNV G393G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.44 268497 chr15 63967229 63967229 T G rs751584731 HERC1 Synonymous SNV R2386R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.704 268498 chr15 65113368 65113368 G A rs751647050 PIF1 Stop gain Q362X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 268499 chr15 68583172 68583172 C G rs143637660 FEM1B Synonymous SNV V492V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.635 268500 chr15 68619066 68619066 C T rs753320941 ITGA11 Nonsynonymous SNV D713N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.8 268501 chr2 242163092 242163092 G A rs368164427 ANO7 Nonsynonymous SNV V810I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.086 268502 chr14 93429178 93429178 C T rs778700158 ITPK1 Synonymous SNV S8S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.87 268503 chr4 140187889 140187889 G A rs375705593 MGARP Nonsynonymous SNV T196I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.874 268504 chr15 73996674 73996674 G A rs143706609 CD276 Synonymous SNV T192T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 268505 chr14 23549211 23549211 G C rs138326972 ACIN1 Nonsynonymous SNV L463V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.429 268506 chr15 100252716 100252718 CAG - MEF2A Q352del 0 0 0 1 0 0 0.003 0 0 0 0 0 268507 chr14 24026127 24026127 T A rs771768469 THTPA Nonsynonymous SNV L54Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 268508 chr15 78463789 78463789 C T rs773160296 ACSBG1 Nonsynonymous SNV M720I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.289 268509 chr15 78885574 78885574 T A rs76071148 CHRNA5 Nonsynonymous SNV H462Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 268510 chr15 79749155 79749155 C T rs3750000 MINAR1 Synonymous SNV N222N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.923 268511 chr15 23052662 23052662 A G NIPA1 Synonymous SNV I62I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.665 268512 chr4 158224885 158224885 T C rs144637439 GRIA2 Synonymous SNV L137L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.213 268513 chr15 28408358 28408358 G A rs774101960 HERC2 Nonsynonymous SNV A3543V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.56 268514 chr4 169327140 169327140 T C rs375100081 DDX60L Synonymous SNV A1058A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.222 268515 chr12 7301703 7301703 C G CLSTN3 Synonymous SNV T661T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.052 268516 chr15 40629612 40629612 G A rs199784772 CCDC9B Nonsynonymous SNV P284L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.144 268517 chr15 50776556 50776559 AAAG - USP8 K630del 0 0.003 0 0 0 1 0 0 0 0 0 0 268518 chr4 187557962 187557962 T C rs142805532 FAT1 Nonsynonymous SNV Y1250C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.8 268519 chr14 61995928 61995928 A G rs775048050 PRKCH Synonymous SNV P523P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.2 268520 chr4 187630240 187630240 C T rs368175691 FAT1 Nonsynonymous SNV E248K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 268521 chr10 4872934 4872934 G A AKR1E2 Nonsynonymous SNV C36Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 268522 chr14 65253667 65253667 C T rs151112486 SPTB Nonsynonymous SNV A1006T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 268523 chr14 68044896 68044896 C G rs200449034 PLEKHH1 Nonsynonymous SNV Q911E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 268524 chr16 1254230 1254230 C G CACNA1H Nonsynonymous SNV D741E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.8 268525 chr15 49031004 49031004 G A rs375235566 CEP152 Synonymous SNV R1469R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.702 268526 chr16 15703533 15703533 G A rs370318263 MARF1 Synonymous SNV V1267V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.37 268527 chr15 52587811 52587811 G C MYO5C Nonsynonymous SNV T8R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 268528 chr16 1706075 1706075 C G rs768441130 CRAMP1 Synonymous SNV A439A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.651 268529 chr14 77732951 77732951 G A rs749793272 NGB Synonymous SNV A128A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.553 268530 chr13 110833672 110833672 G A rs781133776 COL4A1 Synonymous SNV G720G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.862 268531 chr14 77931970 77931970 C T rs770532863 AHSA1 Nonsynonymous SNV T82M 0 0 0.003 0 0 0 0 1 0 0 0 0 30 268532 chr5 37121758 37121758 G A rs767189816 CPLANE1 Nonsynonymous SNV T2995I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.277 268533 chr14 87379830 87379830 C T LINC01148 0 0 0.003 0 0 0 0 1 0 0 0 0 6.643 268534 chr5 37205461 37205461 A G rs943993886 CPLANE1 Nonsynonymous SNV L1082S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 268535 chr14 91007828 91007828 C T rs145554922 TTC7B Nonsynonymous SNV E806K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 268536 chr16 25258633 25258633 G A rs144813841 ZKSCAN2 Nonsynonymous SNV S295F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.572 268537 chr13 33338632 33338632 A G PDS5B Nonsynonymous SNV D1175G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 268538 chr15 68643660 68643660 C A rs200444029 ITGA11 Nonsynonymous SNV S277I 0 0 0 1 0 0 0.003 0 0 0 0 0 33 268539 chr5 72798812 72798812 G A rs137911027 BTF3 Synonymous SNV A129A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 268540 chr15 74425536 74425536 C T rs753811529 ISLR2 Synonymous SNV P147P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 268541 chr15 21940718 21940718 A G rs1533627 LOC646214 0 0 0.007 0 0 0 0 2 0 0 1 0 4.695 268542 chr15 25231994 25232011 TGTGCGTGTGTGCACGTG - rs916974976 PWAR5 0 0 0.003 0 0 0 0 1 0 0 0 0 268543 chr15 25457100 25457100 G T rs184204624 PWAR4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.846 268544 chr15 79587192 79587192 A G ANKRD34C Synonymous SNV E522E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 268545 chr16 3071792 3071792 G A rs141463046 TNFRSF12A Nonsynonymous SNV G119R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 268546 chr3 97596254 97596254 A G rs768690055 CRYBG3 Synonymous SNV S2072S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.736 268547 chr15 78757624 78757624 A G rs182732513 IREB2 Nonsynonymous SNV M45V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.79 268548 chr15 78922086 78922086 C T rs139151554 CHRNB4 Synonymous SNV T187T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.774 268549 chr15 99434671 99434671 A G IGF1R Nonsynonymous SNV H253R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.5 268550 chr10 95660634 95660634 T C rs775625610 SLC35G1 Nonsynonymous SNV I162T 0 0.005 0 0 0 2 0 0 0 0 0 0 25.9 268551 chr16 3304411 3304411 G A rs104895182 MEFV Synonymous SNV G219G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.077 268552 chr16 3434722 3434722 C T rs141990066 ZSCAN32 Nonsynonymous SNV R35H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.376 268553 chr3 111831896 111831896 G A rs191148598 C3orf52 Nonsynonymous SNV E185K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.8 268554 chr15 41796738 41796738 G A rs370375739 LTK Nonsynonymous SNV R611W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 268555 chr5 89938473 89938473 T C rs374609813 ADGRV1 Nonsynonymous SNV V754A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.4 268556 chr16 1251809 1251809 T C rs60720455 CACNA1H Synonymous SNV P453P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.04 268557 chr13 95275387 95275387 T C rs200277432 GPR180 Nonsynonymous SNV F307L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 268558 chr16 48278384 48278384 A G LONP2 Nonsynonymous SNV M29V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.7 268559 chr16 3532505 3532505 G A rs201790867 NAA60 Nonsynonymous SNV G17R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 268560 chr15 90210894 90210894 G A rs74407840 PLIN1 Nonsynonymous SNV T301M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.5 268561 chr15 89430524 89430524 G A rs200265296 HAPLN3 Synonymous SNV G2G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.449 268562 chr16 50664783 50664783 C T rs117249474 NKD1 Synonymous SNV D219D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 268563 chr15 90126164 90126164 G A rs150565858 TICRR Nonsynonymous SNV R301Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.529 268564 chr5 98128800 98128800 C T rs1032389461 RGMB Synonymous SNV I219I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 268565 chr15 44952733 44952733 C A rs373238538 SPG11 Synonymous SNV L113L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.32 268566 chr16 20681257 20681257 G T rs148318102 ACSM1 Nonsynonymous SNV D268E 0.003 0.003 0.007 1 3 1 0.003 2 0 0 0 0 24.2 268567 chr5 121759079 121759079 C T SNCAIP Nonsynonymous SNV P216L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 268568 chr16 1032220 1032220 C T rs746222260 SOX8 Nonsynonymous SNV P100S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 268569 chr16 66503602 66503602 C T rs981965487 BEAN1 Synonymous SNV A41A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.5 268570 chr5 129243987 129243987 T C CHSY3 Synonymous SNV H340H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 268571 chr5 130535277 130535277 C T LYRM7 Nonsynonymous SNV P100S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 268572 chr16 12009530 12009530 - CCGCCGCCG GSPT1 G16_S17insGGG 0 0 0 1 0 0 0.003 0 0 0 0 0 268573 chr5 132161034 132161034 T C rs762555355 SHROOM1 Nonsynonymous SNV K267E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 268574 chr16 1258220 1258220 C T rs200832286 CACNA1H Nonsynonymous SNV P1121L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.314 268575 chr5 132648372 132648372 G T FSTL4 Nonsynonymous SNV T234N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 268576 chr16 1397986 1397986 G A rs140864312 BAIAP3 Synonymous SNV T1003T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.455 268577 chr15 65678893 65678893 G A rs761541490 IGDCC4 Nonsynonymous SNV H983Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 268578 chr11 1093598 1093598 C T rs773648585 MUC2 Nonsynonymous SNV T1806I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.503 268579 chr11 1097281 1097281 G T rs373492641 MUC2 Nonsynonymous SNV G2233C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.74 268580 chr5 138286905 138286905 G A rs368666457 SIL1 Synonymous SNV L328L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.357 268581 chr14 21269928 21269928 G A rs143351335 RNASE1 Synonymous SNV C100C 0.003 0 0 0 3 0 0 0 0 0 0 0 10.71 268582 chr16 67329220 67329220 C T rs371490003 KCTD19 Nonsynonymous SNV R446Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 268583 chr15 65916494 65916494 C T rs755508009 SLC24A1 Nonsynonymous SNV L26F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25 268584 chr16 681280 681280 G A rs4984905 WFIKKN1 Synonymous SNV P9P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.271 268585 chr15 72699483 72699483 A T rs142013465 TMEM202 Nonsynonymous SNV R182W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 268586 chr16 31154705 31154705 A G rs143227575 PRSS36 Nonsynonymous SNV V353A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 268587 chr16 31213789 31213789 C A rs142358771 PYCARD Nonsynonymous SNV D75Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25 268588 chr14 24002097 24002097 C T rs544551431 ZFHX2 Synonymous SNV P746P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 268589 chr5 140798415 140798415 G A rs770294020 PCDHGB7 Nonsynonymous SNV R330Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.844 268590 chr11 117053516 117053516 C T rs367625170 SIDT2 Synonymous SNV T232T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.028 268591 chr15 76031384 76031384 C T rs28711283 DNM1P35 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 268592 chr15 76031393 76031393 C T rs28677951 DNM1P35 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 268593 chr15 76551995 76551995 A G rs77180414 TYRO3P 0 0 0.007 0 0 0 0 2 0 0 0 0 3.956 268594 chr16 2514099 2514099 T C rs772167368 TEDC2 Nonsynonymous SNV S342P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 268595 chr16 26147534 26147534 G T rs775777458 HS3ST4 Nonsynonymous SNV D446Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 268596 chr16 84027967 84027967 C T rs34348308 NECAB2 Synonymous SNV P136P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.22 268597 chr15 85478380 85478380 C T rs756613814 SLC28A1 Synonymous SNV L446L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.93 268598 chr3 170802953 170802953 C T rs753162293 TNIK Synonymous SNV T892T 0 0 0.003 3 0 0 0.008 1 0 0 0 0 11.8 268599 chr16 58231606 58231606 A G CSNK2A2 Nonsynonymous SNV V12A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 268600 chr16 3254293 3254293 G A rs142486394 OR1F1 Nonsynonymous SNV G16E 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 23.7 268601 chr16 3713428 3713428 G A rs1038370962 TRAP1 Nonsynonymous SNV P516S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.396 268602 chr3 183907500 183907500 G C ABCF3 Nonsynonymous SNV Q417H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 268603 chr15 90760699 90760699 C G rs377508643 SEMA4B Nonsynonymous SNV F62L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 268604 chr16 88788461 88788461 G A rs763940836 PIEZO1 Nonsynonymous SNV P1657S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.637 268605 chr15 91433177 91433177 C T rs756511039 FES Nonsynonymous SNV T287I 0 0 0.003 0 0 0 0 1 0 0 0 0 12 268606 chr15 91455798 91455798 C T rs139227537 MAN2A2 Synonymous SNV H791H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 268607 chr16 3778567 3778567 T C rs1030655029 CREBBP Nonsynonymous SNV M2123V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.58 268608 chr16 88788262 88788262 G C PIEZO1 Nonsynonymous SNV P1723R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 268609 chr15 92397302 92397302 C T SLCO3A1 Nonsynonymous SNV T55M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 268610 chr5 177562219 177562219 T C RMND5B Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.49 268611 chr14 65197879 65197879 C T rs762306034 PLEKHG3 Nonsynonymous SNV R281W 0.002 0 0 0 2 0 0 0 0 0 0 0 28 268612 chr16 89657607 89657607 C T CPNE7 Nonsynonymous SNV A414V 0.001 0 0 0 1 0 0 0 0 0 0 0 35 268613 chr16 921323 921323 C T rs372159961 LMF1 Nonsynonymous SNV G197R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 268614 chr17 11797797 11797797 C T rs747156273 DNAH9 Nonsynonymous SNV A109V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 268615 chr16 14540827 14540827 G A rs187555579 PARN Synonymous SNV T548T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 5.091 268616 chr17 10728758 10728758 C T rs369320166 PIRT Nonsynonymous SNV G69S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 268617 chr3 195538675 195538675 C T rs112836612 MUC4 Nonsynonymous SNV R5H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.203 268618 chr3 196230027 196230027 G A RNF168 Synonymous SNV D6D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.535 268619 chr11 20070547 20070547 C T rs367856738 NAV2 Synonymous SNV S478S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.3 268620 chr16 67982031 67982031 G A rs147954596 SLC12A4 Nonsynonymous SNV L596F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 268621 chr14 76248917 76248917 G A rs867401129 TTLL5 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 268622 chr6 16327484 16327484 G A rs758904692 ATXN1 Nonsynonymous SNV P353L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.16 268623 chr11 2434202 2434202 G A rs146068820 TRPM5 Stop gain R713X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 268624 chr16 69921981 69921981 C T WWP2 Nonsynonymous SNV P132L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.176 268625 chr16 67316690 67316690 G T rs151151438 PLEKHG4 Nonsynonymous SNV A399S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.231 268626 chr16 67416148 67416148 G A LRRC36 Synonymous SNV Q560Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.994 268627 chr16 20857560 20857560 C T rs575227833 REXO5 Synonymous SNV H683H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.353 268628 chr16 20931474 20931474 A G LYRM1 Nonsynonymous SNV I64V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 268629 chr16 71318508 71318508 T C rs149735283 CMTR2 Nonsynonymous SNV K439R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 268630 chr16 84497314 84497314 C G rs755823428 ATP2C2 Synonymous SNV V788V 0 0.003 0 0 0 1 0 0 0 0 0 0 5 268631 chr17 19437291 19437291 C T rs765677360 SLC47A1 Synonymous SNV G13G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 268632 chr16 2283038 2283038 G T E4F1 Nonsynonymous SNV G304W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 268633 chr6 26273497 26273497 T G rs61744067 H2BC10 Synonymous SNV A98A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.083 268634 chr16 2581981 2581981 G C rs982894714 MIR3178 0 0 0.003 0 0 0 0 1 0 0 0 0 0.702 268635 chr11 36522941 36522941 G A rs759328711 TRAF6 Nonsynonymous SNV T42M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 268636 chr16 76495921 76495921 G T rs778665911 CNTNAP4 Nonsynonymous SNV A339S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.946 268637 chr16 29997833 29997833 C T rs978611776 TAOK2 Nonsynonymous SNV A747V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 268638 chr16 30392731 30392731 G C rs1004168258 SEPTIN1 Synonymous SNV G128G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.46 268639 chr4 7820827 7820827 C T rs199560271 AFAP1 Synonymous SNV P266P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.5 268640 chr16 30537206 30537206 C T rs776890514 ZNF768 Synonymous SNV G85G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.506 268641 chr16 30777532 30777532 A G RNF40 Nonsynonymous SNV S348G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 268642 chr6 38702376 38702376 C T rs146560083 DNAH8 Nonsynonymous SNV A29V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.68 268643 chr11 45248756 45248756 C T rs772758478 PRDM11 Synonymous SNV D860D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.856 268644 chr17 27086078 27086078 C T rs753661690 FAM222B Nonsynonymous SNV R300H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 268645 chr17 2606742 2606742 G A rs754593118 CLUH Synonymous SNV L115L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 268646 chr16 31196402 31196402 - GGC rs372671599 FUS G230_Y231insG 0 0 0.003 0 0 0 0 1 0 0 0 0 268647 chr16 31439367 31439367 C T COX6A2 Nonsynonymous SNV R60H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.048 268648 chr16 84034390 84034390 G C rs200448915 NECAB2 Nonsynonymous SNV E324Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 268649 chr16 3336033 3336033 G T rs138244751 ZNF263 Nonsynonymous SNV S218I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 268650 chr16 81712193 81712193 G A rs768060093 CMIP Nonsynonymous SNV D356N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 268651 chr6 41773789 41773789 C G USP49 Synonymous SNV S311S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.386 268652 chr11 47593100 47593100 G A rs776299926 PTPMT1 Nonsynonymous SNV A148T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 268653 chr6 43752290 43752290 G A rs778358844 VEGFA Synonymous SNV P315P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.48 268654 chr16 50261824 50261824 G T rs368358423 TENT4B Synonymous SNV S625S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 268655 chr17 34264808 34264808 G A rs202115367 LYZL6 Synonymous SNV N84N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.82 268656 chr16 50659433 50659433 G A rs141900711 NKD1 Nonsynonymous SNV R135Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 268657 chr17 38176121 38176121 C T rs34156165 MED24 Nonsynonymous SNV V911M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 268658 chr6 56365954 56365954 G T rs911141337 DST Nonsynonymous SNV T3984N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 268659 chr16 68009793 68009793 G A DPEP3 Nonsynonymous SNV H447Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.51 268660 chr17 10596184 10596184 C T SCO1 Synonymous SNV K153K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.22 268661 chr16 72992491 72992491 G A ZFHX3 Synonymous SNV S518S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.415 268662 chr17 17409140 17409140 G A rs140621950 PEMT Nonsynonymous SNV R204W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 268663 chr17 26937509 26937509 G A rs935947755 RSKR Nonsynonymous SNV P407L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.7 268664 chr17 27051727 27051727 A G TLCD1 Nonsynonymous SNV F135S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 268665 chr4 89397132 89397132 A T rs139423505 HERC5 Synonymous SNV P511P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.262 268666 chr6 110048370 110048370 G T rs754936627 FIG4 Nonsynonymous SNV M116I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 268667 chr17 42390852 42390852 C A RUNDC3A Nonsynonymous SNV R147S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 268668 chr17 21207836 21207836 A G rs776965903 MAP2K3 Nonsynonymous SNV M194V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.29 268669 chr17 42828267 42828267 A G rs759770956 DBF4B Synonymous SNV E498E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.939 268670 chr16 85690024 85690024 C G rs376914656 GSE1 Synonymous SNV R251R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 268671 chr16 86370971 86370971 G A rs181525999 LINC00917 0 0 0.003 0 0 0 0 1 0 0 0 0 4.385 268672 chr15 63132690 63132690 G A rs760952896 TLN2 Nonsynonymous SNV A2504T 0.002 0 0 0 2 0 0 0 0 0 0 0 34 268673 chr6 112443256 112443256 C T rs140346737 LAMA4 Nonsynonymous SNV R1479H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 268674 chr15 63932507 63932507 G A rs374783494 HERC1 Synonymous SNV D3915D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.16 268675 chr15 65226360 65226360 G T rs780358512 ANKDD1A Nonsynonymous SNV A265S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 268676 chr16 88779753 88779753 C G rs73262667 CTU2 Nonsynonymous SNV H170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.914 268677 chr15 65682595 65682595 C T rs753949820 IGDCC4 Nonsynonymous SNV R769Q 0.002 0 0 0 2 0 0 0 0 0 0 0 32 268678 chr16 88793225 88793225 G A rs370654806 PIEZO1 Synonymous SNV F1199F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.87 268679 chr16 88793348 88793348 C A rs368720309 PIEZO1 Synonymous SNV L1158L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.08 268680 chr16 88793468 88793468 A G rs550993341 PIEZO1 Nonsynonymous SNV V1145A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.76 268681 chr16 88801448 88801448 C T rs374886774 PIEZO1 Synonymous SNV T561T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.47 268682 chr16 88803057 88803057 A G PIEZO1 Nonsynonymous SNV I429T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 268683 chr16 88803062 88803062 C T rs146687530 PIEZO1 Synonymous SNV A427A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.58 268684 chr16 88804443 88804443 C T rs200651964 PIEZO1 Nonsynonymous SNV G307S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.889 268685 chr16 88809707 88809707 G A rs778637679 LOC339059 0 0 0.003 0 0 0 0 1 0 0 0 0 5.401 268686 chr17 48068913 48068913 C T rs151180891 DLX3 Nonsynonymous SNV G278R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 22.7 268687 chr17 3020328 3020328 C T rs541945003 OR1E3 Synonymous SNV G145G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.067 268688 chr17 3119330 3119330 G A rs147378244 OR1A1 Nonsynonymous SNV R139Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.124 268689 chr15 72192260 72192260 G A MYO9A Nonsynonymous SNV L1080F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.894 268690 chr6 136560783 136560783 T C MTFR2 Synonymous SNV Q230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 268691 chr17 33802286 33802286 A G rs1009576898 SLFN12L Nonsynonymous SNV Y475H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.57 268692 chr11 57457883 57457883 G T ZDHHC5 Nonsynonymous SNV A212S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 268693 chr17 3475507 3475507 G A rs757861035 TRPV1 Nonsynonymous SNV L714F 0 0 0 1 0 0 0.003 0 0 0 0 0 24 268694 chr15 75641303 75641303 G A NEIL1 Synonymous SNV R105R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.416 268695 chr17 3493666 3493666 C T rs903705338 TRPV1 Nonsynonymous SNV A209T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 268696 chr11 58714576 58714576 A G rs367748078 GLYATL1 Nonsynonymous SNV N6D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.38 268697 chr6 152527381 152527381 G A rs747134735 SYNE1 Synonymous SNV L7576L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.01 268698 chr17 17124753 17124753 G A rs144832463 FLCN Synonymous SNV N323N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.959 268699 chr15 82336154 82336154 G A rs143622542 MEX3B Nonsynonymous SNV P353S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.54 268700 chr6 155597449 155597449 A T CLDN20 Nonsynonymous SNV Q199L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.428 268701 chr17 6590976 6590976 T C rs143719876 SLC13A5 Nonsynonymous SNV I440V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.52 268702 chr15 86687058 86687058 G A AGBL1 Nonsynonymous SNV A82T 0.002 0 0 0 2 0 0 0 0 0 0 0 32 268703 chr17 39324348 39324348 C T rs201948308 KRTAP4-3 Nonsynonymous SNV R26H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.99 268704 chr17 39324349 39324349 G T rs773968723 KRTAP4-3 Nonsynonymous SNV R26S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 268705 chr17 39550308 39550308 G A rs138434002 KRT31 Nonsynonymous SNV P404L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 268706 chr17 2280068 2280068 T C SGSM2 Nonsynonymous SNV M839T 0 0 0.003 0 0 0 0 1 0 0 0 0 27 268707 chr17 4607163 4607163 C T rs764130448 PELP1 Nonsynonymous SNV A82T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 268708 chr5 1038372 1038372 C T NKD2 Synonymous SNV L414L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.777 268709 chr17 73102081 73102081 G A rs115383053 SLC16A5 Nonsynonymous SNV V491I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.012 268710 chr17 56296553 56296553 T C MKS1 Synonymous SNV A13A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.076 268711 chr17 37371481 37371481 C T STAC2 Nonsynonymous SNV D55N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.252 268712 chr7 20785039 20785039 C A rs1004816440 ABCB5 Nonsynonymous SNV S691Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 268713 chr17 38450262 38450262 G A rs193186571 CDC6 Synonymous SNV T299T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.31 268714 chr17 47126752 47126752 T A rs139015307 IGF2BP1 Synonymous SNV V421V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 268715 chr17 6023715 6023715 G A rs757424884 WSCD1 Nonsynonymous SNV V488M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 268716 chr17 73945315 73945315 C T rs748619167 ACOX1 Nonsynonymous SNV A533T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 268717 chr7 31681872 31681872 G T ITPRID1 Nonsynonymous SNV Q437H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 268718 chr16 2224038 2224038 A G TRAF7 Nonsynonymous SNV K418E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 268719 chr5 39202445 39202445 G A rs376966135 FYB1 Synonymous SNV T216T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.155 268720 chr7 32249123 32249138 GGCATTCTTGTCTCCA - PDE1C G34Dfs*46 0.003 0 0 0 3 0 0 0 0 0 0 0 268721 chr17 65908443 65908443 C T rs774234393 BPTF Synonymous SNV S1481S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.36 268722 chr5 40936448 40936448 A G rs549568139 C7 Nonsynonymous SNV I97V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 268723 chr17 39623307 39623307 C T KRT32 Nonsynonymous SNV A91T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 268724 chr17 80012812 80012812 C T rs756955316 GPS1 Synonymous SNV S216S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.8 268725 chr17 41243824 41243824 T C rs80357037 BRCA1 Nonsynonymous SNV T1195A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.78 268726 chr17 41343492 41343492 C T NBR1 Nonsynonymous SNV L302F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 268727 chr16 28998143 28998143 C T rs139206035 LAT Nonsynonymous SNV P170L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.4 268728 chr7 44798941 44798941 C T rs773781507 ZMIZ2 Nonsynonymous SNV A292V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 268729 chr17 45776074 45776074 C T rs141010554 TBKBP1 Synonymous SNV P189P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.25 268730 chr17 79219919 79219919 G A rs200399623 SLC38A10 Stop gain R933X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 268731 chr17 73726372 73726372 C T rs762778833 ITGB4 Synonymous SNV T263T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.16 268732 chr17 46673389 46673389 G C rs763307489 HOXB-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 268733 chr7 55248965 55248965 C T rs201251727 EGFR-AS1 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 6.969 268734 chr16 422246 422246 G A PGAP6 Nonsynonymous SNV T686I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 268735 chr17 47895284 47895284 C T KAT7 Nonsynonymous SNV P187S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 268736 chr16 4933624 4933624 C T rs201018062 PPL Nonsynonymous SNV G1678R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 268737 chr7 72856708 72856708 G C BAZ1B Nonsynonymous SNV H1424D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 268738 chr7 73457328 73457328 G A ELN Nonsynonymous SNV G104S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 268739 chr7 82584540 82584540 G A rs375287995 PCLO Nonsynonymous SNV A1910V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 268740 chr17 78064153 78064153 G A rs529737669 CCDC40 Synonymous SNV A1016A 0 0.005 0 0 0 2 0 0 0 1 0 0 2.425 268741 chr17 72999594 72999594 C T rs772624343 CDR2L Synonymous SNV L275L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 268742 chr7 91630714 91630714 - T AKAP9 Frameshift insertion N496Kfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 268743 chr7 91651623 91651623 G A AKAP9 Synonymous SNV E1303E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.565 268744 chr17 60758192 60758192 C G rs370638937 MRC2 Synonymous SNV A835A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 268745 chr17 78343395 78343395 G A rs762586000 RNF213 Synonymous SNV P4083P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.497 268746 chr17 74275482 74275482 G A QRICH2 Synonymous SNV L1426L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 268747 chr7 97911700 97911700 C T rs112773459 BRI3 Synonymous SNV H60H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.55 268748 chr7 99751042 99751044 ATG - LAMTOR4 D9del 0.001 0 0 0 1 0 0 0 0 0 0 0 268749 chr7 99773255 99773255 G A rs142847181 GPC2 Synonymous SNV A196A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.048 268750 chr7 100193256 100193256 T C rs149346146 FBXO24 Nonsynonymous SNV I366T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 268751 chr17 79954566 79954566 G A rs771769700 ASPSCR1 Synonymous SNV T182T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.566 268752 chr17 76129615 76129615 T C rs144040084 TMC8 Synonymous SNV T220T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 0.022 268753 chr17 76989856 76989856 C T rs369108479 CANT1 Nonsynonymous SNV G328S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.062 268754 chr17 77984018 77984018 C T rs563961806 TBC1D16 Synonymous SNV S240S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 268755 chr17 72947672 72947672 C T rs147346796 HID1 Nonsynonymous SNV R787Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 268756 chr18 10807143 10807143 G A PIEZO2 Synonymous SNV A349A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 268757 chr17 73570573 73570573 G A rs1009650009 LLGL2 Nonsynonymous SNV R998H 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 17.44 268758 chr17 73736128 73736128 G A rs147480547 ITGB4 Nonsynonymous SNV A808T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 268759 chr17 73871013 73871013 C T rs769166718 TRIM47 Nonsynonymous SNV E490K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 268760 chr18 2707894 2707894 G A rs1026317745 SMCHD1 Nonsynonymous SNV V746I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 26.3 268761 chr17 74288687 74288716 CTGATCTGCACCAGGTTGCACCACATCAAT - rs780443978 QRICH2 I532_Q541del 0 0 0.003 0 0 0 0 1 0 0 0 0 268762 chr12 121659781 121659781 C T P2RX4 Synonymous SNV C116C 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 4.058 268763 chr17 74898681 74898681 C T rs755618936 MGAT5B Nonsynonymous SNV A136V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 268764 chr12 123712131 123712131 G T MPHOSPH9 Nonsynonymous SNV S46Y 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 26.1 268765 chr17 8137871 8137871 G A rs200440641 CTC1 Nonsynonymous SNV P574S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 268766 chr17 76558006 76558006 C T rs755030354 DNAH17 Synonymous SNV A542A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 268767 chr7 105121568 105121568 A G rs377728624 PUS7 Nonsynonymous SNV I375T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.3 268768 chr18 34647291 34647291 C T rs757696470 KIAA1328 Nonsynonymous SNV R231W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 268769 chr12 12870804 12870804 C T rs779193240 CDKN1B Nonsynonymous SNV P11S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.1 268770 chr7 107533675 107533675 C T rs369442554 DLD Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 268771 chr18 77895323 77895325 CCT - rs780382375 ADNP2 S679del 0.002 0 0 0 2 0 0 0 0 0 0 0 268772 chr7 108209961 108209961 T C THAP5 Nonsynonymous SNV N18S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 268773 chr7 111372291 111372291 A T DOCK4 Synonymous SNV S1815S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.713 268774 chr7 114619695 114619695 G A rs149568758 MDFIC Nonsynonymous SNV A118T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.126 268775 chr17 78447144 78447144 G A rs201690477 NPTX1 Synonymous SNV Y251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 268776 chr12 133272505 133272505 A G rs747334319 PXMP2 Nonsynonymous SNV Y91C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 268777 chr18 2694571 2694571 A G rs755508169 SMCHD1 Nonsynonymous SNV H307R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 10.43 268778 chr7 126173900 126173900 C T rs774632571 GRM8 Synonymous SNV P307P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 268779 chr12 19436276 19436276 G A rs536749296 PLEKHA5 Nonsynonymous SNV R345H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 268780 chr7 131831350 131831350 G A rs370460371 PLXNA4 Synonymous SNV H1658H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.492 268781 chr17 12666462 12666462 G C rs748136577 MYOCD Nonsynonymous SNV S773T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.342 268782 chr19 14910638 14910638 A - rs534928853 OR7C1 F104Sfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 268783 chr17 16552975 16552975 G A ZNF624 Synonymous SNV R28R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.065 268784 chr7 139299088 139299088 C T rs758491660 HIPK2 Nonsynonymous SNV C618Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 268785 chr7 139838934 139838934 T C rs771650432 KDM7A Nonsynonymous SNV N84S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 268786 chr18 72997825 72997825 - GCCCCC TSHZ1 A155delinsGPP 0.001 0 0 0 1 0 0 0 0 0 0 0 268787 chr19 17010312 17010312 G A rs748090856 CPAMD8 Nonsynonymous SNV R1608C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 34 268788 chr7 144096072 144096072 C G rs1006463439 NOBOX Nonsynonymous SNV K480N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 268789 chr12 48105558 48105558 A G rs764093351 ENDOU Nonsynonymous SNV W262R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 268790 chr7 149477937 149477937 G A rs369695824 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 268791 chr18 34273250 34273250 C T rs146170583 FHOD3 Synonymous SNV A508A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 16.99 268792 chr18 3597089 3597089 - T rs767132613 DLGAP1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 268793 chr19 1111028 1111028 G A rs377201548 SBNO2 Synonymous SNV D901D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.537 268794 chr12 50561046 50561046 A G rs199600749 CERS5 Nonsynonymous SNV L12P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 268795 chr12 51068363 51068363 A G rs766670186 DIP2B Synonymous SNV K249K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.882 268796 chr17 34079553 34079553 C G rs781977154 GAS2L2 Nonsynonymous SNV G106A 0.003 0 0 0 4 0 0 0 0 0 0 0 26.3 268797 chr18 77659198 77659198 G A KCNG2 Synonymous SNV P261P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.196 268798 chr19 2421937 2421937 C T rs1040564792 TMPRSS9 Nonsynonymous SNV A713V 0 0 0 1 0 0 0.003 0 0 0 0 0 26 268799 chr19 3290288 3290288 C G CELF5 Nonsynonymous SNV A377G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 268800 chr18 74622036 74622036 C T ZNF236 Nonsynonymous SNV A855V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 268801 chr8 12958136 12958136 G C DLC1 Synonymous SNV S59S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 268802 chr19 16643933 16643933 G A rs370243776 CHERP Synonymous SNV H137H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 3.351 268803 chr19 10625265 10625265 C T rs35940589 S1PR5 Synonymous SNV G141G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.36 268804 chr19 11118640 11118640 G A rs368941893 SMARCA4 Synonymous SNV K688K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.74 268805 chr12 56558160 56558160 G A rs546122042 SMARCC2 Synonymous SNV S1165S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.23 268806 chr19 12984436 12984436 G A MAST1 Synonymous SNV Q1155Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.662 268807 chr19 13873818 13873818 C A rs149179548 CCDC130 Nonsynonymous SNV T231K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 268808 chr6 41119025 41119025 C G TREML1 Nonsynonymous SNV E47D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.34 268809 chr17 39646022 39646022 C T rs199500732 KRT36 Nonsynonymous SNV R32H 0.003 0 0 0 3 0 0 0 0 0 0 0 1.238 268810 chr19 36133585 36133585 G T ETV2 Stop gain E47X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 268811 chr12 6749287 6749287 C T rs143977947 ACRBP Nonsynonymous SNV R455Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 268812 chr12 68720347 68720347 C A MDM1 Nonsynonymous SNV Q196H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.519 268813 chr8 30700593 30700593 G A rs147888421 TEX15 Nonsynonymous SNV L2364F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 268814 chr19 13320254 13320254 C T rs779044548 CACNA1A Nonsynonymous SNV R2134Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 268815 chr8 62566179 62566179 T C rs144325115 ASPH Synonymous SNV P92P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.804 268816 chr19 16631038 16631038 C T rs762562358 CHERP Nonsynonymous SNV R795Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 268817 chr19 17091346 17091346 G A CPAMD8 Synonymous SNV L516L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.282 268818 chr6 65098686 65098686 T C rs762475623 EYS Nonsynonymous SNV N1992S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.015 268819 chr19 17367417 17367417 G C rs376454461 USHBP1 Nonsynonymous SNV P381A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.346 268820 chr8 91064118 91064118 G C rs200122846 DECR1 Nonsynonymous SNV G334A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 268821 chr19 17641592 17641592 C T rs772394329 NIBAN3 Synonymous SNV F28F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.578 268822 chr8 107751719 107751719 G T rs766033726 OXR1 Nonsynonymous SNV V34F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 268823 chr19 19654819 19654819 C T CILP2 Nonsynonymous SNV R489C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 268824 chr19 20045260 20045260 A G ZNF93 Nonsynonymous SNV H499R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 268825 chr19 21719317 21719317 T C rs1034986417 ZNF429 Synonymous SNV F90F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 268826 chr8 117783908 117783908 A C rs34845194 UTP23 Synonymous SNV R193R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.399 268827 chr19 23544031 23544031 T G rs772530218 ZNF91 Nonsynonymous SNV N552H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.878 268828 chr13 111009842 111009842 G A rs768751210 COL4A2 Synonymous SNV P41P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.293 268829 chr19 33119636 33119636 G A rs185481468 ANKRD27 Synonymous SNV L443L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.578 268830 chr19 33293569 33293569 A G rs572794853 TDRD12 Synonymous SNV T735T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 268831 chr19 47646803 47646803 A G SAE1 Nonsynonymous SNV I51V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.57 268832 chr19 34180278 34180278 C T rs150945646 CHST8 Synonymous SNV L37L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 268833 chr19 41269532 41269532 A G rs866431453 SNRPA Nonsynonymous SNV N214S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 268834 chr19 35556191 35556191 G A HPN Synonymous SNV Q283Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.388 268835 chr8 142367564 142367564 G A rs773772258 GPR20 Nonsynonymous SNV R154W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 268836 chr8 143808784 143808784 C T THEM6 Nonsynonymous SNV A7V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.46 268837 chr19 36616653 36616653 C T rs1801989 TBCB Nonsynonymous SNV P235L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 268838 chr6 135308904 135308904 T C HBS1L Nonsynonymous SNV D328G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 268839 chr8 144896066 144896066 T G rs112295309 SCRIB Nonsynonymous SNV D93A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 268840 chr6 150174292 150174292 C G LRP11 Nonsynonymous SNV K206N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 268841 chr19 48342921 48342921 C T rs61748455 CRX Synonymous SNV S199S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.958 268842 chr19 40900551 40900551 C T rs202119177 PRX Synonymous SNV A1236A 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.675 268843 chr19 41209460 41209460 G A rs376667884 COQ8B Nonsynonymous SNV A221V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.027 268844 chr13 76104360 76104360 C T rs149125057 COMMD6 Nonsynonymous SNV D6N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 268845 chr13 92051444 92051444 G C rs749635689 GPC5 Synonymous SNV L48L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.67 268846 chr9 334350 334350 T C rs201361966 DOCK8 Synonymous SNV L349L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.721 268847 chr13 92051447 92051447 G T rs369039474 GPC5 Synonymous SNV P49P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.33 268848 chr19 46443609 46443609 C T rs756083426 NOVA2 Nonsynonymous SNV A331T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.97 268849 chr19 42132274 42132274 G A rs148045742 CEACAM4 Nonsynonymous SNV P42L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 268850 chr9 4662537 4662537 C T rs186498890 PLPP6 Synonymous SNV T54T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.974 268851 chr19 50154697 50154697 C T SCAF1 Nonsynonymous SNV R351W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 268852 chr19 42473665 42473665 G A rs35272495 ATP1A3 Synonymous SNV P881P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.58 268853 chr19 43026110 43026110 C T rs143281867 CEACAM1 Synonymous SNV A223A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.052 268854 chr19 43031229 43031229 C A CEACAM1 Nonsynonymous SNV V130L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.326 268855 chr19 44351246 44351246 G A rs776736951 ZNF283 Nonsynonymous SNV E26K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.614 268856 chr14 104642263 104642263 C T rs757523332 KIF26A Synonymous SNV A1046A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.97 268857 chr14 104644051 104644051 G A rs753796697 KIF26A Synonymous SNV P1642P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 268858 chr19 44771283 44771283 A C ZNF233 Nonsynonymous SNV H136P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.768 268859 chr14 105615612 105615612 G A JAG2 Nonsynonymous SNV R512C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 268860 chr14 20502889 20502889 G A rs369451100 OR4K13 Nonsynonymous SNV S10L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 268861 chr9 35061169 35061169 T C rs148329626 VCP Nonsynonymous SNV N356S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.57 268862 chr17 78064060 78064060 G T CCDC40 Synonymous SNV A985A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.94 268863 chr9 35403554 35403554 A G rs201643678 UNC13B Nonsynonymous SNV K1113R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22 268864 chr19 52447964 52447964 T G ZNF613 Nonsynonymous SNV N276K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.212 268865 chr19 52793714 52793714 G A rs368823771 ZNF766 Nonsynonymous SNV V224I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 268866 chr9 35792747 35792747 C T rs747247133 NPR2 Synonymous SNV H114H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.901 268867 chr19 4512708 4512708 G C PLIN4 Nonsynonymous SNV L422V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 268868 chr9 75435870 75435870 G A TMC1 Nonsynonymous SNV V626I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 268869 chr7 6038836 6038836 G A PMS2 Nonsynonymous SNV T97I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 268870 chr19 46914774 46914774 C T CCDC8 Nonsynonymous SNV A432T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 268871 chr19 4704284 4704284 C T DPP9 Synonymous SNV E153E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 268872 chr9 79321917 79321917 T A rs750115171 PRUNE2 Nonsynonymous SNV D1758V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 268873 chr17 79813341 79813341 G A rs201682102 P4HB Synonymous SNV I158I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.61 268874 chr17 80045664 80045664 C T rs755403955 FASN Synonymous SNV T980T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.18 268875 chr9 86395304 86395304 T C rs777061715 GKAP1 Nonsynonymous SNV K193R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.82 268876 chr19 56614374 56614374 G A rs775851513 ZNF787 Synonymous SNV A71A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.957 268877 chr9 100124096 100124096 C T rs772329471 CCDC180 Nonsynonymous SNV T1235I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 268878 chr14 33004933 33004933 G A rs143299114 AKAP6 Synonymous SNV L166L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.197 268879 chr19 49458813 49458813 A G rs151036634 BAX Nonsynonymous SNV S15G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 268880 chr19 49376843 49376843 A G rs750620616 PPP1R15A Nonsynonymous SNV Y118C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 268881 chr9 103059391 103059391 A G INVS Synonymous SNV T667T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 268882 chr9 103092306 103092306 C T TEX10 Nonsynonymous SNV E469K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 268883 chr19 580764 580764 C A BSG Synonymous SNV I78I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.522 268884 chr9 107550295 107550295 T C ABCA1 Nonsynonymous SNV Y2037C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 268885 chr19 50099793 50099793 G T rs368869078 PRR12 Nonsynonymous SNV R734L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 268886 chr19 49447759 49447759 G A rs779785797 DHDH Nonsynonymous SNV R297H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 268887 chr19 51169782 51169782 G A SHANK1 Nonsynonymous SNV A1812V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 268888 chr19 49657711 49657719 CATCATCAT - rs547456261 HRC D259_D261del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 268889 chr19 50124816 50124816 C T rs201282388 PRR12 Synonymous SNV D1886D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.98 268890 chr9 116930231 116930231 C T rs753062733 COL27A1 Synonymous SNV P132P 0.003 0 0 0 3 0 0 0 0 0 0 0 15.06 268891 chr19 52208371 52208371 A G rs201322832 SPACA6 Nonsynonymous SNV N324D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.885 268892 chr19 52506963 52506965 ATT - rs755362711 ZNF615 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 268893 chr7 50175760 50175760 T G rs149326344 SPATA48 Nonsynonymous SNV F312V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 268894 chr9 124622644 124622644 G T TTLL11 Nonsynonymous SNV N694K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 268895 chr14 64685971 64685971 A G rs201715228 SYNE2 Nonsynonymous SNV N76S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 268896 chr19 8436182 8436182 G A rs774924877 ANGPTL4 Nonsynonymous SNV R234H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 268897 chr7 70255288 70255288 C T rs755394081 AUTS2 Nonsynonymous SNV T1005M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 268898 chr19 54206067 54206067 G A rs200291969 MIR518B 0 0 0.003 0 0 0 0 1 0 0 0 0 5.087 268899 chr14 71444868 71444868 A T rs771141075 PCNX1 Nonsynonymous SNV Q605L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.638 268900 chr14 71500685 71500685 G A rs780849431 PCNX1 Nonsynonymous SNV E1125K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 268901 chr19 54818764 54818764 G A rs145397246 LILRA5 Synonymous SNV V266V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.881 268902 chr9 130206561 130206561 A C rs375612906 ZNF79 Synonymous SNV A60A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.625 268903 chr18 60241379 60241379 C T ZCCHC2 Nonsynonymous SNV P689S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.75 268904 chr19 9074679 9074679 C A rs750358761 MUC16 Nonsynonymous SNV S4256I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.14 268905 chr14 81837335 81837335 T C rs199826666 STON2 Nonsynonymous SNV T190A 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.493 268906 chr14 91739837 91739837 G A rs766112055 CCDC88C Nonsynonymous SNV S1740L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.743 268907 chr9 135202325 135202325 A C rs112089123 SETX Nonsynonymous SNV C1554G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign/Likely benign 21.6 268908 chr19 56733230 56733230 T C rs751509325 ZSCAN5A Nonsynonymous SNV H285R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 268909 chr19 55752707 55752707 G A rs764115485 PPP6R1 Nonsynonymous SNV T354M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 268910 chr19 55865328 55865328 T C rs796742615 COX6B2 Nonsynonymous SNV H40R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 268911 chr9 138903547 138903547 C T rs201847833 NACC2 Nonsynonymous SNV D527N 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.1 268912 chr19 57640991 57640991 A G USP29 Synonymous SNV Q316Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 268913 chr19 57678806 57678806 G A rs564812746 DUXA Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.423 268914 chr19 8191607 8191607 G A rs201001245 FBN3 Synonymous SNV T802T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.091 268915 chr19 58563941 58563941 G A ZSCAN1 Synonymous SNV Q183Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 268916 chr19 58601645 58601645 C T rs200705696 ZSCAN18 Nonsynonymous SNV R53H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 268917 chr19 56459410 56459410 G A rs61738689 NLRP8 Nonsynonymous SNV V48M 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 17.07 268918 chr9 139835752 139835752 C T rs200276837 FBXW5 Nonsynonymous SNV D470N 0.002 0 0 0 2 0 0 0 0 0 0 0 23 268919 chr9 139905964 139905964 G A rs751150346 ABCA2 Synonymous SNV F1898F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.463 268920 chr19 6904061 6904061 C T rs774926993 ADGRE1 Nonsynonymous SNV R132C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 268921 chr9 140084276 140084276 G A rs780695011 SSNA1 Synonymous SNV Q90Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.292 268922 chr19 57328002 57328007 TCACGT - rs748431268 PEG3 E448_R449del 0 0 0 1 0 0 0.003 0 0 0 0 0 268923 chr19 757465 757465 C T rs78823735 MISP Synonymous SNV P173P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.56 268924 chr15 33905406 33905406 T A RYR3 Synonymous SNV A729A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.15 268925 chr19 7676741 7676741 T C rs763311683 CAMSAP3 Synonymous SNV G454G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 268926 chr1 10381860 10381860 G A KIF1B Nonsynonymous SNV G722D 0.002 0 0 0 2 0 0 0 0 0 0 0 31 268927 chr10 1246057 1246057 G C ADARB2 Synonymous SNV L571L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.013 268928 chr19 829633 829633 C T rs756016487 AZU1 Nonsynonymous SNV T96M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 268929 chr19 8994476 8994476 C G MUC16 Nonsynonymous SNV E13806Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 268930 chr1 110561024 110561024 T C rs141877166 AHCYL1 Synonymous SNV L338L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.766 268931 chr1 110765765 110765765 C T rs151032487 KCNC4 Synonymous SNV G286G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 268932 chr19 58981191 58981191 C T rs1045622414 ZNF324 Nonsynonymous SNV T73I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.282 268933 chr15 42178357 42178357 C T rs372838005 SPTBN5 Nonsynonymous SNV A366T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 268934 chr15 45386392 45386392 T C rs200382889 DUOX2 Nonsynonymous SNV R1535G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 268935 chr10 27323792 27323792 A G ANKRD26 Nonsynonymous SNV L1195S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 268936 chr1 11008054 11008054 C T rs138037733 C1orf127 Nonsynonymous SNV R574H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.386 268937 chr19 8386190 8386190 - C NDUFA7 0 0 0 1 0 0 0.003 0 0 0 0 0 268938 chr1 104615646 104615646 C T LOC100129138 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 268939 chr1 108116784 108116784 C T rs142668144 VAV3 Nonsynonymous SNV R236Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 268940 chr1 12157189 12157189 G A rs753585625 TNFRSF8 Synonymous SNV R61R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.58 268941 chr1 1231202 1231202 C A rs745323169 ACAP3 Nonsynonymous SNV R540L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 268942 chr1 1115662 1115662 C - rs779853194 TTLL10 H78Tfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 268943 chr10 50854615 50854615 G A rs200321426 CHAT Synonymous SNV A274A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 268944 chr1 11772427 11772427 G A rs766531918 DRAXIN Nonsynonymous SNV G263D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 268945 chr15 66624295 66624295 G A rs201072464 DIS3L Nonsynonymous SNV R747H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.8 268946 chr7 150439646 150439646 C A rs765713700 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV T140K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.738 268947 chr1 108291634 108291634 T G VAV3 Synonymous SNV T486T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.527 268948 chr1 11898430 11898430 C T rs376742792 CLCN6 Synonymous SNV A756A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 268949 chr1 12183775 12183775 C T rs762721391 TNFRSF8 Synonymous SNV T237T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.572 268950 chr1 10292471 10292471 C G rs760368705 KIF1B Nonsynonymous SNV Q29E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.32 268951 chr1 12321021 12321021 A T rs112286021 VPS13D Nonsynonymous SNV Q410L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.135 268952 chr1 110051453 110051453 C T rs375349763 AMIGO1 Nonsynonymous SNV G28S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 268953 chr10 71265886 71265886 A G rs913746739 TSPAN15 Nonsynonymous SNV S122G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 268954 chr1 110300600 110300600 - CTGCTGGTTTT rs562835845 EPS8L3 Frameshift insertion K235Pfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 268955 chr1 110301701 110301701 C A rs368382484 EPS8L3 Nonsynonymous SNV E114D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.396 268956 chr1 11825928 11825928 C T rs182679402 C1orf167 Nonsynonymous SNV R29W 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 21.7 268957 chr8 1575045 1575045 G A rs762050332 DLGAP2 Nonsynonymous SNV V528M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 268958 chr8 3200901 3200901 G C rs772523417 CSMD1 Nonsynonymous SNV I1182M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.179 268959 chr1 155629682 155629682 G C rs140052371 YY1AP1 Synonymous SNV P662P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.878 268960 chr10 99126812 99126812 G A rs779954455 RRP12 Synonymous SNV F911F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.71 268961 chr1 167654690 167654690 G A rs758764426 RCSD1 Synonymous SNV P47P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 268962 chr10 101294749 101294749 C T rs1014295287 NKX2-3 Synonymous SNV C122C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 268963 chr1 170521413 170521413 T G rs145659887 GORAB Stop gain L307X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 268964 chr1 160144464 160144464 C T rs759005020 ATP1A4 Synonymous SNV D746D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 268965 chr1 161161016 161161016 G A rs41270039 ADAMTS4 Nonsynonymous SNV T809M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 268966 chr19 42490043 42490043 C A rs200860753 ATP1A3 Synonymous SNV L204L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.97 268967 chr16 14355286 14355286 G C rs201086858 MRTFB Synonymous SNV P1084P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.974 268968 chr16 1453331 1453331 T G UNKL Nonsynonymous SNV H101P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 268969 chr1 154099836 154099836 A G rs771055086 NUP210L Nonsynonymous SNV I379T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 268970 chr1 156354354 156354354 C G rs200023853 RHBG Nonsynonymous SNV P424A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 268971 chr1 155034826 155034826 C G rs757341237 ADAM15 Nonsynonymous SNV P805A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 268972 chr1 170993676 170993676 A T rs563722622 MROH9 Nonsynonymous SNV K683N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 268973 chr10 119134025 119134025 G A PDZD8 Synonymous SNV F238F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.248 268974 chr1 196288646 196288646 T G rs147741588 KCNT2 Synonymous SNV P772P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.673 268975 chr1 156255397 156255397 G A rs147509014 TMEM79 Nonsynonymous SNV R127H 0 0 0 1 0 0 0.003 0 0 0 0 0 31 268976 chr1 198698296 198698296 A G PTPRC Synonymous SNV E459E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.351 268977 chr1 200972774 200972774 T C KIF21B Synonymous SNV Q384Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.793 268978 chr1 1848598 1848598 T C rs760022306 CALML6 Nonsynonymous SNV M154T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 268979 chr1 179054946 179054946 G A rs1024574403 TOR3A Nonsynonymous SNV R186Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25 268980 chr1 157660320 157660320 G A rs773784322 FCRL3 Nonsynonymous SNV P472L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 268981 chr10 134726284 134726284 G A rs762590092 CFAP46 Stop gain R792X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 268982 chr16 27512608 27512608 G A rs148433438 GTF3C1 Synonymous SNV C655C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.126 268983 chr16 28164091 28164091 A G rs201365540 XPO6 Synonymous SNV F371F 0 0.003 0 0 0 1 0 0 0 0 0 0 4.47 268984 chr1 160275479 160275479 G A rs772265510 COPA Synonymous SNV H509H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 10.79 268985 chr19 47773677 47773677 C A CCDC9 Nonsynonymous SNV P306T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.52 268986 chr1 208201498 208201498 G A rs756463636 PLXNA2 Synonymous SNV Y1815Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.05 268987 chr1 20834443 20834443 C G MUL1 Synonymous SNV L25L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 268988 chr1 196871674 196871674 C T rs185240845 CFHR4 Nonsynonymous SNV T62I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.5 268989 chr1 197115487 197115487 G T rs369801034 ASPM Synonymous SNV P27P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.11 268990 chr19 48876881 48876881 C T SYNGR4 Synonymous SNV S67S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.1 268991 chr19 48976636 48976639 GTGA - CYTH2 0.002 0 0 0 2 0 0 0 0 0 0 0 268992 chr1 173878962 173878962 C T rs587776397 SERPINC1 Nonsynonymous SNV R294H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.89 268993 chr1 176526286 176526286 A G rs371296634 PAPPA2 Synonymous SNV P276P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.028 268994 chr1 202698171 202698171 C T rs761912360 KDM5B Nonsynonymous SNV R1498Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 268995 chr16 4744221 4744221 G T NUDT16L1 Synonymous SNV S132S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.95 268996 chr1 20964493 20964493 G A rs751763774 PINK1 Synonymous SNV L182L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.206 268997 chr1 228294569 228294569 C T rs201353580 MRPL55 Synonymous SNV L93L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.802 268998 chr1 181702689 181702689 C T rs74127835 CACNA1E Nonsynonymous SNV T1003M 0 0 0 1 0 0 0.003 0 0 0 0 0 19.85 268999 chr1 22165523 22165523 C T rs77713482 HSPG2 Synonymous SNV T3316T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.03 269000 chr1 22170704 22170704 G A rs772559776 HSPG2 Synonymous SNV P2852P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 269001 chr1 212180790 212180790 A G INTS7 Synonymous SNV G137G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.383 269002 chr1 182781313 182781313 G A rs141892236 NPL Nonsynonymous SNV V66I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 269003 chr11 1651232 1651232 - TGTGGCTCTGGCTGTGGGGGCTGTGGCTCCGGCTGTGGGGGA rs754168379 KRTAP5-5 G56_G57insSGCGGCGSGCGGCG 0.001 0 0 0 1 0 0 0 0 0 0 0 269004 chr16 710080 710080 G A WDR90 Synonymous SNV S1069S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.314 269005 chr16 75258715 75258715 G A rs191950160 CTRB1 Nonsynonymous SNV R248H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.99 269006 chr19 53410636 53410636 G C ZNF888 Synonymous SNV L313L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.836 269007 chr19 53454726 53454726 A C ZNF816 Nonsynonymous SNV F101C 0.003 0 0 0 4 0 0 0 0 0 0 0 14.15 269008 chr1 23759594 23759594 C T rs146778835 ASAP3 Nonsynonymous SNV G758R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 269009 chr11 5199412 5199412 C T rs192113682 OR52Z1 Synonymous SNV P143P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.486 269010 chr11 5373652 5373652 C G rs75370776 OR51B6 Nonsynonymous SNV F305L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.554 269011 chr1 231003965 231003965 G C C1orf198 Synonymous SNV R98R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 269012 chr1 231487143 231487143 T C SPRTN Nonsynonymous SNV Y139H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 269013 chr1 228786285 228786285 G A rs77648740 DUSP5P1 0 0 0.017 0 0 0 0 5 0 0 0 0 2.157 269014 chr1 235827838 235827838 C T rs377306581 LYST Nonsynonymous SNV V3708M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.3 269015 chr1 203696681 203696681 G A rs113186728 ATP2B4 Synonymous SNV L1097L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.58 269016 chr1 204438685 204438685 G A rs146062717 PIK3C2B Synonymous SNV R82R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.968 269017 chr16 84353166 84353166 G A rs145072849 WFDC1 Nonsynonymous SNV R184H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 269018 chr1 205197866 205197866 C G rs139015976 TMCC2 Nonsynonymous SNV N58K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 269019 chr9 33926625 33926625 C T rs777110723 UBAP2 Nonsynonymous SNV R73Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 269020 chr1 236734753 236734753 C A rs201415717 HEATR1 Nonsynonymous SNV K1282N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 269021 chr1 240494043 240494043 G A rs746904371 FMN2 Synonymous SNV K833K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.635 269022 chr1 244715778 244715778 A G rs758441319 CATSPERE Nonsynonymous SNV I80V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 269023 chr16 88788630 88788630 C A PIEZO1 Nonsynonymous SNV D1651Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.7 269024 chr1 249142073 249142073 G A rs748611536 ZNF672 Synonymous SNV Q200Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.133 269025 chr16 89260165 89260165 C T rs746050214 CDH15 Synonymous SNV D665D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.054 269026 chr9 85613295 85613295 G A RASEF Nonsynonymous SNV T597I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 269027 chr1 28476825 28476825 C T rs781223496 PTAFR Synonymous SNV T236T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 269028 chr17 10358948 10358948 A G rs149111262 MYH4 Synonymous SNV Y719Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.046 269029 chr1 2238065 2238065 - GCTGCGGGCCGACCT SKI R690_E691insADLLR 0 0 0 1 0 0 0.003 0 0 0 0 0 269030 chr1 2519825 2519825 G A rs376956428 PRXL2B Nonsynonymous SNV R124H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.074 269031 chr1 26212294 26212294 G A STMN1 Nonsynonymous SNV H149Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.881 269032 chr11 11964099 11964099 G C USP47 Nonsynonymous SNV G670A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.663 269033 chr1 36214054 36214054 A C rs776215966 CLSPN Synonymous SNV S744S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.173 269034 chr1 22974097 22974097 G A rs45487196 C1QC Nonsynonymous SNV V98I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.325 269035 chr17 1690759 1690759 C T rs755093777 SMYD4 Synonymous SNV A559A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.26 269036 chr1 27684329 27684329 G A rs148022982 MAP3K6 Nonsynonymous SNV P977L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 269037 chr1 231488522 231488522 A T SPRTN Nonsynonymous SNV R295S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.254 269038 chr17 177311 177311 G A rs139108107 RPH3AL Synonymous SNV S8S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 269039 chr11 20070351 20070351 A G NAV2 Nonsynonymous SNV N413S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 269040 chr1 38027279 38027279 G A rs532698995 DNALI1 Synonymous SNV A173A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 269041 chr11 34969061 34969061 G A rs200562821 PDHX Nonsynonymous SNV V69M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 269042 chr1 2541125 2541125 C T MMEL1 Synonymous SNV L146L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.993 269043 chr1 46032592 46032592 C T rs776618128 AKR1A1 Nonsynonymous SNV H86Y 0 0 0 1 0 0 0.003 0 0 0 0 0 31 269044 chr1 43354018 43354018 G A rs12027329 LOC339539 0 0 0.014 0 0 0 0 4 0 0 1 0 5.563 269045 chr1 27087378 27087378 T C rs756561081 ARID1A Nonsynonymous SNV M651T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 269046 chr1 24417389 24417389 G A rs368225792 MYOM3 Nonsynonymous SNV R444W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 269047 chr11 47198147 47198147 G A rs201970430 ARFGAP2 Synonymous SNV A37A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 269048 chr11 47701596 47701596 C T rs773847850 AGBL2 Nonsynonymous SNV E649K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 269049 chr1 24746056 24746056 G A rs148391167 NIPAL3 Nonsynonymous SNV A7T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.822 269050 chr1 55075393 55075393 G A FAM151A Nonsynonymous SNV L436F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 269051 chr1 55277721 55277721 G C LEXM Synonymous SNV G207G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 269052 chr1 55555386 55555386 G A USP24 Synonymous SNV T2194T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 269053 chr1 10231355 10231355 G T rs1011230836 UBE4B Nonsynonymous SNV A1036S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.24 269054 chr11 55563113 55563113 C - OR5D14 P28Lfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 269055 chr1 63789751 63789751 T C rs764320615 FOXD3 Nonsynonymous SNV L341P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 269056 chr1 28059168 28059168 G A FAM76A Synonymous SNV T67T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 269057 chr1 26497090 26497090 - T rs756845836 ZNF593 Frameshift insertion Y97Lfs*30 0 0 0 1 0 0 0.003 0 0 0 0 0 269058 chr1 26507046 26507046 G A rs372478085 CNKSR1 Nonsynonymous SNV R52Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 269059 chr1 79120876 79120876 A G rs772975173 IFI44 Synonymous SNV T224T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 269060 chr1 35334342 35334342 G A rs373836246 DLGAP3 Synonymous SNV P783P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 269061 chr1 84647891 84647891 C T rs370005044 PRKACB Synonymous SNV A26A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 269062 chr1 32829406 32829406 T C rs753130828 TSSK3 Nonsynonymous SNV V119A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 269063 chr1 87037068 87037068 T G rs2231596 CLCA4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.902 269064 chr9 140128109 140128109 A G rs201964796 SLC34A3 Nonsynonymous SNV S261G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 3.02 269065 chr1 897310 897310 G A KLHL17 Synonymous SNV R198R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.632 269066 chr17 4109686 4109686 A G rs374696750 ANKFY1 Synonymous SNV V318V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.031 269067 chr1 36932470 36932470 A T rs979745964 CSF3R Nonsynonymous SNV S694T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 269068 chr1 37941192 37941192 C T rs115805535 ZC3H12A Nonsynonymous SNV P32L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.73 269069 chr1 37941196 37941196 G T rs116208741 ZC3H12A Nonsynonymous SNV R33S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.016 269070 chr1 7897125 7897125 G T PER3 Nonsynonymous SNV Q1155H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 269071 chr11 57069569 57069569 G A rs772610788 TNKS1BP1 Nonsynonymous SNV H1605Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 269072 chr1 92754667 92754667 C T rs61754623 GLMN Nonsynonymous SNV A146T 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 18.6 269073 chr1 39776043 39776043 G A rs760697511 MACF1 Nonsynonymous SNV E1020K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.2 269074 chr1 93705245 93705245 G A rs758037838 CCDC18 Nonsynonymous SNV E924K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 269075 chr11 58035078 58035078 G A rs142581541 OR10W1 Nonsynonymous SNV L85F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.403 269076 chr17 4349454 4349454 C T rs141789307 SPNS3 Nonsynonymous SNV R45C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.44 269077 chr1 150049784 150049784 G A rs146660821 VPS45 Nonsynonymous SNV R100H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 269078 chr1 41475219 41475219 G A rs776186929 CTPS1 Nonsynonymous SNV R394Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.5 269079 chr1 879423 879423 T A rs558379044 SAMD11 Nonsynonymous SNV S646T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 269080 chr1 983470 983470 C T rs747114622 AGRN Nonsynonymous SNV S1277L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.837 269081 chr1 879424 879424 C T rs777921687 SAMD11 Nonsynonymous SNV S646F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 269082 chr1 89579856 89579856 G T rs145938232 GBP2 Nonsynonymous SNV A331D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 269083 chr1 151694041 151694041 G T rs758638471 RIIAD1 Nonsynonymous SNV R10L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.075 269084 chr11 60183318 60183318 C T rs142839945 MS4A14 Nonsynonymous SNV L276F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 269085 chr1 43205585 43205585 G C rs750581981 CLDN19 Synonymous SNV L50L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.16 269086 chr1 152128418 152128418 - CTTGTGTGTCTGGCTGACCATAGTGGGAACTCTGAC RPTN Q385_D386insGQSSHYGQPDTQ 0.002 0 0 0 2 0 0 0 0 0 0 0 269087 chr1 152275683 152275683 C T rs149891038 FLG Synonymous SNV E3893E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.112 269088 chr10 16979676 16979676 G A rs199868206 CUBN Synonymous SNV S1947S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.742 269089 chr20 1559020 1559020 A G SIRPB1 Nonsynonymous SNV F133L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.029 269090 chr11 61254422 61254422 - C PPP1R32 Frameshift insertion P262Sfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 269091 chr1 44457935 44457935 A G rs767490401 CCDC24 Nonsynonymous SNV S60G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.94 269092 chr11 61914279 61914279 C T rs371735595 INCENP Synonymous SNV R699R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 269093 chr11 62288508 62288508 T C rs114666146 AHNAK Nonsynonymous SNV M4461V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.533 269094 chr11 62455338 62455338 C G LRRN4CL Nonsynonymous SNV V215L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 269095 chr20 25195565 25195565 C T rs146741054 ENTPD6 Synonymous SNV N2N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.42 269096 chr1 86048136 86048136 A G CCN1 Synonymous SNV L224L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.119 269097 chr17 5436697 5436697 C T rs999244321 NLRP1 Synonymous SNV A990A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.55 269098 chr11 64522824 64522824 T C rs115690781 PYGM Nonsynonymous SNV N171S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23 269099 chr20 34218364 34218364 C A CPNE1 Nonsynonymous SNV A367S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.56 269100 chr20 34743606 34743606 T C rs905320952 LOC100130373 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 269101 chr20 17923043 17923043 G A rs9322 SNX5 Synonymous SNV V286V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.293 269102 chr20 36572589 36572589 G A rs370535778 VSTM2L Synonymous SNV P183P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.749 269103 chr20 30231212 30231212 C T rs149245323 COX4I2 Nonsynonymous SNV R85W 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 Uncertain significance 34 269104 chr20 20020433 20020433 C T rs75910745 CRNKL1 Synonymous SNV E455E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.987 269105 chr1 159410404 159410404 G A rs201823824 OR10J1 Nonsynonymous SNV V275M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 269106 chr20 20350387 20350387 C T rs61733922 INSM1 Synonymous SNV H492H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 269107 chr20 2082686 2082686 C T STK35 Synonymous SNV S53S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 269108 chr17 65185729 65185729 T C rs756764911 HELZ Synonymous SNV T280T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.076 269109 chr20 24940322 24940322 G A rs149366656 CST7 Nonsynonymous SNV E138K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 269110 chr1 9932101 9932101 C T rs113935062 CTNNBIP1 Nonsynonymous SNV G8R 0.004 0.005 0.003 0 5 2 0 1 0 0 0 0 34 269111 chr20 25655608 25655608 T G ZNF337-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.177 269112 chr1 161953870 161953870 G T OLFML2B Synonymous SNV G617G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.451 269113 chr11 70034075 70034075 G T rs143248839 ANO1 Nonsynonymous SNV A976S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.029 269114 chr20 37357025 37357025 G T rs777043497 SLC32A1 Nonsynonymous SNV V441F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.4 269115 chr11 72293586 72293586 G A rs748817156 PDE2A Nonsynonymous SNV L578F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 269116 chr20 31651458 31651458 A T BPIFB3 Nonsynonymous SNV N210I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 269117 chr1 8419906 8419906 C T rs150925051 RERE Nonsynonymous SNV R625Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 269118 chr11 74053682 74053682 T C rs199643460 PGM2L1 Nonsynonymous SNV I486V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.622 269119 chr11 75277967 75277967 C A rs745340617 SERPINH1 Nonsynonymous SNV D191E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 11.54 269120 chr20 33567538 33567538 G C rs749590719 MYH7B Nonsynonymous SNV M133I 0.003 0 0 0 4 0 0 0 0 0 0 0 21.3 269121 chr20 44639624 44639624 G A rs746611387 MMP9 Nonsynonymous SNV G195D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 269122 chr20 44642643 44642643 G T rs760437446 SLC12A5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.208 269123 chr20 44983567 44983567 C T rs375977599 SLC35C2 Synonymous SNV Q91Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.52 269124 chr20 34215295 34215295 G C rs757272967 CPNE1 Synonymous SNV P381P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.467 269125 chr20 60897744 60897744 G A rs369815289 LAMA5 Synonymous SNV G2045G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 269126 chr20 35243680 35243680 G C rs200310862 SLA2 Nonsynonymous SNV I160M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 269127 chr20 47606128 47606128 C T rs528322627 ARFGEF2 Synonymous SNV I907I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.39 269128 chr17 73568125 73568125 G A rs34545262 LLGL2 Nonsynonymous SNV V814I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.19 269129 chr17 73916453 73916453 G T rs756218697 FBF1 Nonsynonymous SNV Q578K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.37 269130 chr17 73916454 73916454 C T rs777879778 FBF1 Synonymous SNV K577K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.41 269131 chr1 9079302 9079302 G A rs866419501 SLC2A7 Synonymous SNV I134I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 269132 chr20 36993385 36993385 C G rs774351558 LBP Nonsynonymous SNV N300K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 269133 chr20 3739299 3739299 G A rs571531973 C20orf27 Nonsynonymous SNV R41C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 269134 chr1 915316 915405 GAGGCAGGTATAGACACAGCCATGTCCCTGTCAGGTTGCGGCTCAGAGGCAGGTGTAGACACAGCCATGTCCGTGTCAGGTTGCGGCTCA - PERM1 E336_S365del 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 269135 chr17 7412930 7412930 C T rs372327674 POLR2A Synonymous SNV S1264S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 18.15 269136 chr20 62324166 62324166 C T rs3848671 RTEL1 Synonymous SNV P664P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.14 269137 chr17 7483196 7483196 C T rs374658534 CD68 Nonsynonymous SNV P40S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 269138 chr11 108381468 108381468 G T rs140045378 EXPH5 Nonsynonymous SNV S1401Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.043 269139 chr20 16360625 16360625 C T rs138619892 KIF16B Synonymous SNV A674A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.235 269140 chr21 34635342 34635342 C T rs776463241 IFNAR2 Nonsynonymous SNV P362L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.9 269141 chr20 17640368 17640397 GCCTTTTTGCCTTGGTTTGGGGTTCCTTCT - rs780620529 RRBP1 T255_G264del 0 0 0 1 0 0 0.003 0 0 0 0 0 269142 chr20 25038687 25038687 G T ACSS1 Synonymous SNV R18R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 269143 chr20 18296866 18296866 G C ZNF133 Nonsynonymous SNV Q438H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 269144 chr20 18297297 18297297 C A ZNF133 Nonsynonymous SNV T582K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.04 269145 chr10 101594257 101594257 G A rs370049107 ABCC2 Nonsynonymous SNV V1127I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 0.018 269146 chr1 19499962 19499962 G A rs372841260 UBR4 Nonsynonymous SNV R1046W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 269147 chr21 37833391 37833391 G T rs760219487 CLDN14 Synonymous SNV T201T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 269148 chr20 55746096 55746096 G A rs141004050 BMP7 Synonymous SNV S405S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.27 269149 chr11 117301499 117301499 C T DSCAML1 Synonymous SNV K1875K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 269150 chr20 62198450 62198450 G A rs148657138 HELZ2 Nonsynonymous SNV S185L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 269151 chr17 79174181 79174181 C G rs61741530 CEP131 Nonsynonymous SNV R285P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 269152 chr17 79220093 79220093 C T rs745796445 SLC38A10 Nonsynonymous SNV A875T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.8 269153 chr21 43963586 43963586 G A rs200166607 SLC37A1 Nonsynonymous SNV V202M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 269154 chr20 31652478 31652478 G A rs142043656 BPIFB3 Nonsynonymous SNV V251M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 269155 chr20 50225102 50225102 C T rs182878114 ATP9A Synonymous SNV S900S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.79 269156 chr20 33342623 33342623 G A rs144477396 NCOA6 Nonsynonymous SNV P526L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 269157 chr20 33342629 33342629 G C rs148359628 NCOA6 Nonsynonymous SNV A524G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.78 269158 chr11 124743286 124743286 G A rs199609085 ROBO3 Synonymous SNV R539R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.424 269159 chr21 33040887 33040887 A G SOD1 Nonsynonymous SNV Q154R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.6 269160 chr20 62328249 62328250 AG - rs540583157 TNFRSF6B E45Afs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 269161 chr21 33709719 33709719 C T rs201921468 URB1 Nonsynonymous SNV V1539I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.076 269162 chr21 33757991 33757991 A G rs190959570 URB1 Synonymous SNV L49L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.02 269163 chr21 47734726 47734726 C T C21orf58 Synonymous SNV G65G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.062 269164 chr11 125851099 125851099 C T rs748037394 CDON Nonsynonymous SNV G1041S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.176 269165 chr18 10758122 10758122 C G PIEZO2 Nonsynonymous SNV M1231I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 269166 chr22 19209044 19209044 G A rs747348354 CLTCL1 Synonymous SNV I884I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.755 269167 chr11 130010313 130010313 G A rs3740881 APLP2 Nonsynonymous SNV D391N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 269168 chr11 130343178 130343178 C T rs148493027 ADAMTS15 Nonsynonymous SNV S772F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.595 269169 chr21 40572162 40572162 G C rs762781093 BRWD1 Nonsynonymous SNV A1579G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 269170 chr1 211093166 211093166 A G KCNH1 Synonymous SNV I399I 0.002 0 0 0 2 0 0 0 0 0 0 0 4.245 269171 chr22 22287939 22287939 G A rs1055314607 PPM1F Nonsynonymous SNV R191C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 269172 chr1 212560376 212560376 G A rs577787447 PACC1 Nonsynonymous SNV S67L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 33 269173 chr21 33689114 33689114 C T rs766324467 URB1 Synonymous SNV L2099L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.32 269174 chr22 23605738 23605738 G A rs943416406 FBXW4P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.098 269175 chr1 215792407 215792407 A G rs753757515 KCTD3 Nonsynonymous SNV D581G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 269176 chr21 45674549 45674549 G A rs532994427 DNMT3L Nonsynonymous SNV P215L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.586 269177 chr12 6887446 6887446 A T rs139429051 LAG3 Nonsynonymous SNV I490F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 269178 chr20 52583537 52583537 C T rs139595442 BCAS1 Nonsynonymous SNV E406K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.13 269179 chr20 60770925 60770925 G A MTG2 Nonsynonymous SNV C91Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 269180 chr20 60878655 60878655 C T ADRM1 Synonymous SNV L11L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.26 269181 chr22 32012743 32012743 C T rs200733766 SFI1 Nonsynonymous SNV R1050W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 269182 chr12 9232325 9232325 C A rs201667231 A2M Nonsynonymous SNV A831S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 269183 chr20 57769291 57769291 C T rs185535109 ZNF831 Nonsynonymous SNV H1073Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 269184 chr20 58567552 58567552 T A CDH26 Nonsynonymous SNV I468N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 269185 chr18 55351400 55351400 A G rs147642236 ATP8B1 Nonsynonymous SNV Y450H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.277 269186 chr22 37578507 37578507 G A rs545012450 C1QTNF6 Synonymous SNV P186P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.421 269187 chr22 37964751 37964751 C T rs375107701 CDC42EP1 Nonsynonymous SNV T367I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 269188 chr22 19929251 19929251 C - TXNRD2 V26Cfs*71 0.001 0 0 1 1 0 0.003 0 0 0 0 0 269189 chr22 38541463 38541463 T C rs201339748 PLA2G6 Nonsynonymous SNV H136R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.012 269190 chr22 39263036 39263036 C T rs773251156 CBX6 Synonymous SNV P121P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 269191 chr22 40814533 40814533 C T rs200254736 MRTFA Nonsynonymous SNV A637T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.528 269192 chr22 40814719 40814719 C T rs749760507 MRTFA Nonsynonymous SNV V575M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 269193 chr12 12630676 12630680 CACGC - rs201941751 DUSP16 S362Tfs*32 0.002 0 0.003 0 2 0 0 1 0 0 0 0 269194 chr12 12630682 12630685 GGGC - rs200271649 DUSP16 P361Afs*10 0.002 0 0.003 0 2 0 0 1 0 0 0 0 269195 chr22 24224948 24224948 G A rs367680987 SLC2A11 Synonymous SNV V292V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.486 269196 chr20 62191973 62191973 C T rs41298358 HELZ2 Synonymous SNV P1884P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.751 269197 chr18 67817902 67817902 A G RTTN Nonsynonymous SNV L666P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 269198 chr21 43327167 43327167 T G rs138967523 C2CD2 Nonsynonymous SNV T263P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.3 269199 chr20 62322188 62322188 G T rs150461578 RTEL1 Nonsynonymous SNV S592I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 17.05 269200 chr12 14832636 14832636 C T rs775449520 GUCY2C Nonsynonymous SNV R262Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.338 269201 chr12 14946800 14946800 C T WBP11 Nonsynonymous SNV E260K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 269202 chr22 26422936 26422936 C T rs373119005 MYO18B Synonymous SNV D2333D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 8.615 269203 chr22 19119792 19119792 C T rs371353822 TSSK2 Nonsynonymous SNV R294C 0.001 0 0 0 1 0 0 0 0 0 0 0 21 269204 chr18 77227591 77227591 A C rs113736099 NFATC1 Nonsynonymous SNV I688L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.765 269205 chr21 28305247 28305247 G A rs369966538 ADAMTS5 Synonymous SNV N602N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.078 269206 chr19 10097261 10097261 A G rs201522236 COL5A3 Nonsynonymous SNV F738L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.36 269207 chr22 31536314 31536314 C A rs528919853 PLA2G3 Synonymous SNV G9G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.91 269208 chr19 10246869 10246869 G A DNMT1 Synonymous SNV G1515G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.69 269209 chr21 34100434 34100434 C T rs558192601 PAXBP1-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.611 269210 chr21 34921985 34921985 T C rs755497071 SON Synonymous SNV L150L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.358 269211 chr21 47738032 47738032 C T rs756343058 C21orf58 Nonsynonymous SNV G68E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 269212 chr12 40153855 40153855 A G SLC2A13 Synonymous SNV S640S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.7 269213 chr11 1857442 1857442 C G SYT8 Synonymous SNV A163A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.823 269214 chr21 37572690 37572690 C G rs773077505 DOP1B Nonsynonymous SNV L128V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 269215 chr21 38390419 38390419 G A rs61735126 RIPPLY3 Nonsynonymous SNV R78Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 269216 chr2 112942802 112942802 A T FBLN7 Nonsynonymous SNV Q232L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 269217 chr19 11516055 11516055 G A rs143935430 RGL3 Synonymous SNV S348S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.54 269218 chr12 49374433 49374433 - T WNT1 Frameshift insertion L197Pfs*120 0.001 0 0 0 1 0 0 0 0 0 0 0 269219 chr22 31998729 31998729 C A SFI1 Nonsynonymous SNV A533D 0.001 0 0 0 1 0 0 0 0 0 0 0 25 269220 chr21 47551998 47551998 G A rs1042930 COL6A2 Synonymous SNV T864T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.407 269221 chr22 36122485 36122485 G A APOL5 Nonsynonymous SNV A124T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 269222 chr22 24616640 24616640 G A rs181695229 GGT5 Synonymous SNV I525I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.001 269223 chr19 14590269 14590269 C T rs748705149 GIPC1 Synonymous SNV G144G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 269224 chr12 52790751 52790751 G A KRT82 Synonymous SNV N328N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.919 269225 chr1 2573103 2573103 G A rs545565598 TTC34 Nonsynonymous SNV R982C 0.002 0 0 0 2 0 0 0 0 0 0 0 13.58 269226 chr12 54756741 54756741 G - rs780521780 GPR84 Q299Sfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 269227 chr22 50898743 50898743 G A rs371278125 SBF1 Nonsynonymous SNV R1082W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 269228 chr22 20103980 20103980 G C TRMT2A Stop gain Y60X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 269229 chr12 57548409 57548409 A C LRP1 Synonymous SNV A384A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 269230 chr19 17837372 17837372 G A MAP1S Synonymous SNV L367L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.409 269231 chr2 166613689 166613689 T G GALNT3 Nonsynonymous SNV K420N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 269232 chr12 58016896 58016896 G - rs747677139 SLC26A10 V344Wfs*76 0.001 0 0 0 1 0 0 0 0 0 0 0 269233 chr19 18321784 18321784 G A rs147017099 PDE4C Synonymous SNV A467A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.962 269234 chr22 24896155 24896155 C T rs373673403 UPB1 Nonsynonymous SNV A62V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.1 269235 chr12 65563658 65563658 C G rs867412512 LEMD3 Synonymous SNV V94V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.305 269236 chr12 76424365 76424376 GAGTGCGGCTGT - rs763258858 PHLDA1 S386_H389del 0.001 0 0 0 1 0 0 0 0 0 0 0 269237 chr2 172187117 172187117 A C rs143561498 METTL8 Nonsynonymous SNV L226R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 269238 chr1 43907179 43907179 C T rs200935344 SZT2 Nonsynonymous SNV R2449W 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 269239 chr22 30681659 30681659 C T CASTOR1 Nonsynonymous SNV G314S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.24 269240 chr2 177034143 177034143 G C HOXD3 Nonsynonymous SNV G101R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.708 269241 chr12 81007564 81007564 C T rs551717599 PTPRQ Synonymous SNV F1532F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.399 269242 chr2 179468778 179468778 A G rs397517620 TTN Synonymous SNV Y9147Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.1 269243 chr12 85277626 85277626 T C SLC6A15 Synonymous SNV L256L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 269244 chr12 89885848 89885848 C T rs76216585 POC1B Nonsynonymous SNV R64Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 269245 chr22 50659749 50659749 A G rs1000471692 TUBGCP6 Synonymous SNV A1013A 0 0.005 0 1 0 2 0.003 0 0 0 0 0 0.101 269246 chr2 10794618 10794618 T C rs200890328 NOL10 Nonsynonymous SNV Y295C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 269247 chr22 40717173 40717173 C G rs368916872 TNRC6B Nonsynonymous SNV T1575S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 269248 chr22 41652283 41652283 C T RANGAP1 Synonymous SNV L300L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.75 269249 chr22 51159362 51159362 C T SHANK3 Nonsynonymous SNV A1095V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.7 269250 chr12 109671580 109671580 C T rs754587008 ACACB Synonymous SNV F1389F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.79 269251 chr2 152406167 152406167 G A rs200239095 NEB Nonsynonymous SNV R4977C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 269252 chr2 202251153 202251153 A C rs199712167 TRAK2 Nonsynonymous SNV I584S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 269253 chr2 20403998 20403998 G A rs141315088 SDC1 Nonsynonymous SNV T68M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.003 269254 chr12 112220997 112220997 C T rs151016544 ALDH2 Synonymous SNV A85A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 269255 chr12 116424942 116424942 G A rs749495593 MED13L Synonymous SNV F1362F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 269256 chr2 121748219 121748219 G A rs770936696 GLI2 Nonsynonymous SNV E1435K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 269257 chr2 21228084 21228084 G A rs764654025 APOB Nonsynonymous SNV R3886C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 269258 chr2 219127743 219127743 T G rs773374681 GPBAR1 Nonsynonymous SNV L99R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 269259 chr2 219135295 219135295 - G rs777779692 PNKD Frameshift insertion A15Gfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 269260 chr19 39384060 39384060 C T rs199594239 SIRT2 Nonsynonymous SNV E37K 0 0.005 0.003 0 0 2 0 1 0 0 0 0 21.4 269261 chr12 124220140 124220140 G A rs571403150 ATP6V0A2 Nonsynonymous SNV G265E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 269262 chr19 39963072 39963072 C T rs544448135 SUPT5H Synonymous SNV T654T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.51 269263 chr2 102481428 102481428 T A rs56048147 MAP4K4 Nonsynonymous SNV S550T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 269264 chr12 125591777 125591777 C A AACS Nonsynonymous SNV T293N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 269265 chr2 141083346 141083346 C T rs141655851 LRP1B Nonsynonymous SNV V4109I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.16 269266 chr12 129694127 129694127 C T TMEM132D Nonsynonymous SNV G461S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 269267 chr12 132554046 132554046 G A rs189173886 EP400 Nonsynonymous SNV A2961T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 269268 chr2 103343319 103343319 C T rs994938890 MFSD9 Nonsynonymous SNV A77T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 269269 chr2 105858564 105858564 G A GPR45 Synonymous SNV L83L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.187 269270 chr12 132633432 132633440 GCGACCTCG - NOC4L C298_G301delinsW 0.001 0 0 0 1 0 0 0 0 0 0 0 269271 chr12 133779433 133779433 A G rs748288411 ZNF268 Synonymous SNV P387P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 269272 chr1 92647643 92647645 CTT - rs145948325 KIAA1107 S956del 0.002 0 0.003 0 2 0 0 1 0 0 0 0 269273 chr13 20763210 20763210 C T rs201004645 GJB2 Nonsynonymous SNV A171T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.12 269274 chr2 165551488 165551488 T C COBLL1 Nonsynonymous SNV E805G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.49 269275 chr2 127453525 127453525 T G GYPC Nonsynonymous SNV V46G 0.002 0 0 0 2 0 0 0 1 0 0 0 24.7 269276 chr2 186678720 186678720 C T rs202177929 FSIP2 Nonsynonymous SNV T6759M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.09 269277 chr2 187627256 187627256 C T rs147631304 FAM171B Synonymous SNV S729S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 269278 chr2 237374287 237374287 G A rs35814876 IQCA1 Nonsynonymous SNV R263W 0.002 0.003 0.01 0 2 1 0 3 0 0 0 0 22.5 269279 chr2 128712714 128712714 C T rs199719276 SAP130 Synonymous SNV A720A 0 0 0 2 0 0 0.005 0 0 0 0 0 15.87 269280 chr2 12880827 12880827 C T rs150722548 TRIB2 Synonymous SNV S313S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 269281 chr2 131799003 131799003 C T rs374604987 ARHGEF4 Synonymous SNV A1621A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 269282 chr2 136537881 136537881 T G rs201807021 UBXN4 Synonymous SNV P438P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.724 269283 chr13 39265563 39265563 T C rs199715291 FREM2 Nonsynonymous SNV F1361S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 269284 chr13 45008131 45008131 A C rs190374603 TSC22D1 Synonymous SNV V561V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.13 269285 chr2 179615364 179615364 G T TTN Synonymous SNV T3921T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 269286 chr13 46563106 46563106 T C rs150109207 ZC3H13 Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.482 269287 chr2 242945835 242945835 G A LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 4.183 269288 chr2 165353987 165353987 T C GRB14 Nonsynonymous SNV E286G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 269289 chr2 160268912 160268912 T C BAZ2B Nonsynonymous SNV N835D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 269290 chr2 211454902 211454902 G A rs139043685 CPS1 Nonsynonymous SNV A262T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.5 269291 chr2 27435165 27435165 G A rs11556163 ATRAID Nonsynonymous SNV G32R 0 0 0.014 0 0 0 0 4 0 0 0 0 23.3 269292 chr11 60708672 60708672 G A rs140945002 SLC15A3 Nonsynonymous SNV R400W 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 269293 chr20 25493544 25493544 G A rs369056472 NINL Nonsynonymous SNV R126C 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 269294 chr2 192141704 192141704 A G MYO1B Nonsynonymous SNV E28G 0 0.003 0 0 0 1 0 0 0 0 0 0 33 269295 chr2 202575717 202575717 T C rs61757691 ALS2 Nonsynonymous SNV I1373M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 269296 chr2 170387991 170387991 C T rs752543615 FASTKD1 Nonsynonymous SNV C667Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 269297 chr2 202671456 202671456 C A CDK15 Synonymous SNV G23G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 269298 chr13 103394948 103394948 G T rs549161742 CCDC168 Nonsynonymous SNV T2700K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.207 269299 chr20 33588818 33588818 A G rs748695626 MYH7B Nonsynonymous SNV K1820E 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 269300 chr2 198949490 198949490 C T PLCL1 Synonymous SNV L417L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.402 269301 chr13 103515267 103515267 G A rs4150318 BIVM-ERCC5, ERCC5 Nonsynonymous SNV V590I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.416 269302 chr2 201502946 201502946 G A rs112028885 AOX1 Nonsynonymous SNV R830H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 269303 chr20 34785921 34785921 C T rs112471399 EPB41L1 Synonymous SNV P468P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.609 269304 chr19 50099243 50099243 A G PRR12 Nonsynonymous SNV S551G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.439 269305 chr2 202672283 202672283 C G rs34776344 CDK15 Nonsynonymous SNV R64G 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 0.06 269306 chr19 50905985 50905985 C T rs377300843 POLD1 Synonymous SNV C319C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.39 269307 chr2 21228172 21228172 G C APOB Nonsynonymous SNV I3856M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 269308 chr2 17952501 17952501 C T rs141482726 GEN1 Nonsynonymous SNV P250L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.5 269309 chr2 179548750 179548750 T C TTN Nonsynonymous SNV R9684G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 269310 chr20 43723669 43723669 G A rs147562294 KCNS1 Nonsynonymous SNV R475C 0.002 0 0 0 2 0 0 0 0 0 0 0 25 269311 chr2 61404731 61404731 A G AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 269312 chr2 182323007 182323007 A T ITGA4 Synonymous SNV G94G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.769 269313 chr2 219867674 219867674 A G rs143844742 CFAP65 Synonymous SNV P1921P 0.003 0 0 0 3 0 0 0 0 0 0 0 4.819 269314 chr2 182780211 182780211 G A rs141978094 ITPRID2 Nonsynonymous SNV G462E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.09 269315 chr2 183702716 183702716 A G FRZB Nonsynonymous SNV I274T 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 269316 chr20 54972877 54972877 A C CSTF1 Synonymous SNV R209R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.02 269317 chr14 23245504 23245504 A G SLC7A7 Nonsynonymous SNV I265T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 269318 chr2 189458731 189458731 G C rs181641969 GULP1 Nonsynonymous SNV R200T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 269319 chr2 84908601 84908601 G A rs528704325 DNAH6 Nonsynonymous SNV A2289T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 269320 chr2 97506245 97506245 G A rs771773900 ANKRD23 Nonsynonymous SNV R145C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 269321 chr19 55418149 55418149 G A rs201331285 NCR1 Synonymous SNV L113L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.851 269322 chr14 31590663 31590663 C T HECTD1 Nonsynonymous SNV V1722I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 269323 chr3 100541489 100541489 C T rs369016495 ABI3BP Nonsynonymous SNV R810H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 269324 chr3 100566444 100566444 A T rs750367952 ABI3BP 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 269325 chr3 10413597 10413597 C T rs144118750 ATP2B2 Nonsynonymous SNV V474I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.8 269326 chr2 232458818 232458818 C T rs75570293 TEX44 Nonsynonymous SNV R386C 0 0.005 0 0 0 2 0 0 0 0 0 0 25.9 269327 chr14 47426754 47426754 T C rs772341366 MDGA2 Nonsynonymous SNV I569V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 269328 chr2 220251830 220251830 A G DNPEP Nonsynonymous SNV L39P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 269329 chr19 56203169 56203169 C T rs200210378 EPN1 Nonsynonymous SNV P246L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.72 269330 chr2 238303478 238303478 G A rs147701785 COL6A3 Nonsynonymous SNV S154L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.05 269331 chr3 11600860 11600860 C T rs200044987 VGLL4 Nonsynonymous SNV A103T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.7 269332 chr2 224777036 224777036 G A rs377147904 WDFY1 Synonymous SNV C71C 0.002 0 0 0 2 0 0 0 0 0 0 0 10.97 269333 chr2 242033726 242033726 C G rs568652244 MTERF4 Nonsynonymous SNV Q214H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.513 269334 chr2 242066279 242066279 G A rs56372985 PASK Nonsynonymous SNV P684L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.042 269335 chr2 242080058 242080058 C T rs377528813 PASK Nonsynonymous SNV G103S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 269336 chr2 242138778 242138778 C T rs373363400 ANO7 Synonymous SNV S119S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 269337 chr3 121207094 121207094 C A rs3218643 POLQ Nonsynonymous SNV D1562Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 269338 chr2 242433513 242433513 G A rs144436834 FARP2 Synonymous SNV E1046E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.189 269339 chr2 220430196 220430196 C T rs376487302 OBSL1 Synonymous SNV S725S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.89 269340 chr2 220467192 220467192 G A rs768895270 STK11IP Synonymous SNV E147E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.91 269341 chr2 27248458 27248458 G A rs770244043 MAPRE3 Synonymous SNV Q159Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 269342 chr3 126180766 126180766 C T rs542777035 ZXDC Nonsynonymous SNV S580N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 24.5 269343 chr2 27327221 27327221 G A rs112618911 CGREF1 Nonsynonymous SNV T5M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 269344 chr3 128292062 128292062 - T LINC01565 0 0 0.003 0 0 0 0 1 0 0 0 0 269345 chr3 129221570 129221570 C T rs138138714 IFT122 Nonsynonymous SNV R687C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 269346 chr3 129624709 129624709 A G rs556283815 TMCC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.467 269347 chr3 129624710 129624710 C A TMCC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.644 269348 chr3 129624731 129624731 A G TMCC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.154 269349 chr3 129624734 129624734 A G TMCC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.205 269350 chr3 129624749 129624749 G A TMCC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.231 269351 chr3 129624758 129624758 A T TMCC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.282 269352 chr3 130150771 130150771 G A COL6A5 Nonsynonymous SNV R1904K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.229 269353 chr14 77722994 77722994 G A rs373975287 TMEM63C Synonymous SNV R782R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 269354 chr19 7828277 7828277 A G rs62623420 CLEC4M 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 11.91 269355 chr14 77793212 77793212 G A rs140889171 GSTZ1 Synonymous SNV T34T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 269356 chr11 121440958 121440958 A C rs770903456 SORL1 Nonsynonymous SNV M1106L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.64 269357 chr14 78140379 78140379 C T rs141233669 ALKBH1 Nonsynonymous SNV D316N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 269358 chr2 61708403 61708403 G C XPO1 Nonsynonymous SNV L996V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.49 269359 chr14 88459826 88459826 A G rs556647825 GALC Synonymous SNV H6H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.264 269360 chr2 242814048 242814048 T A rs912054650 RTP5 Nonsynonymous SNV L114H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 269361 chr3 141499322 141499322 A T GRK7 Nonsynonymous SNV K240M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 269362 chr3 142681987 142681987 C G rs767014306 PAQR9 Synonymous SNV R64R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 269363 chr2 55792169 55792169 G C rs200351314 PPP4R3B Nonsynonymous SNV I563M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 269364 chr2 75081487 75081487 G A rs201380686 HK2 Nonsynonymous SNV R44H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 269365 chr14 97342437 97342437 C T VRK1 Nonsynonymous SNV T380I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.842 269366 chr19 9085691 9085691 T C rs750297899 MUC16 Nonsynonymous SNV I2042V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 269367 chr2 84921485 84921485 T C DNAH6 Synonymous SNV L2469L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.209 269368 chr3 159482711 159482711 G A rs533012998 IQCJ-SCHIP1, SCHIP1 Synonymous SNV A181A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.86 269369 chr3 159706981 159706981 G C rs377562012 IL12A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.413 269370 chr14 101348434 101348434 C G rs756553297 RTL1 Nonsynonymous SNV G898R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 269371 chr2 32692752 32692752 C T BIRC6 Nonsynonymous SNV T1839I 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 269372 chr14 102792324 102792324 A C ZNF839 Nonsynonymous SNV Q97H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 269373 chr2 37041426 37041426 G C rs138223173 VIT Nonsynonymous SNV E632D 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.82 269374 chr2 73800292 73800292 C A ALMS1 Stop gain S3762X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 269375 chr2 38546111 38546111 T C rs763429557 ATL2 Synonymous SNV T138T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.411 269376 chr3 182166591 182166591 T C rs80315575 LINC01994 0 0 0.003 0 0 0 0 1 0 0 0 0 2.901 269377 chr14 105460982 105460982 C G CLBA1 Nonsynonymous SNV S288R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 269378 chr3 185146618 185146618 C T rs56308417 MAP3K13 Synonymous SNV S83S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 269379 chr3 10858153 10858153 T C rs767843315 SLC6A11 Nonsynonymous SNV I68T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 269380 chr2 97587327 97587327 A G FAM178B Nonsynonymous SNV I451T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 269381 chr2 61431501 61431501 A G USP34 Nonsynonymous SNV Y3092H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 269382 chr22 32479102 32479102 G T rs150117594 SLC5A1 Nonsynonymous SNV V82L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.513 269383 chr3 193049050 193049050 A C rs200719625 ATP13A5 Synonymous SNV T441T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.003 269384 chr3 196386644 196386644 C G rs556333034 NRROS Nonsynonymous SNV R44G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 269385 chr3 32915353 32915353 G A rs899879476 TRIM71 Nonsynonymous SNV R299H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 269386 chr15 43484989 43484989 C T rs552930898 CCNDBP1 Synonymous SNV T303T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 269387 chr3 39108047 39108047 G T rs762161599 WDR48 Nonsynonymous SNV A11S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 269388 chr3 126208160 126208160 - T UROC1 Frameshift insertion R556Kfs*44 0 0 0 1 0 0 0.003 0 0 0 0 0 269389 chr2 99012367 99012367 C T rs143531659 CNGA3 Nonsynonymous SNV T227M 0.002 0 0 0 2 0 0 0 0 0 0 0 2.166 269390 chr2 73226139 73226139 G A rs749007020 SFXN5 Nonsynonymous SNV S135L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 269391 chr3 10254967 10254967 A T IRAK2 Nonsynonymous SNV D202V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 269392 chr2 84686317 84686317 A G SUCLG1 Nonsynonymous SNV L26P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 269393 chr15 58430863 58430863 G A rs139221402 AQP9 Synonymous SNV T33T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.593 269394 chr2 85777856 85777856 G T rs61733105 GGCX Nonsynonymous SNV P579T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 269395 chr2 85820279 85820279 G A rs150584141 VAMP5 Synonymous SNV X117X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.144 269396 chr3 48218912 48218912 C G rs145991453 CDC25A Synonymous SNV S195S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 269397 chr3 134851768 134851768 T A EPHB1 Nonsynonymous SNV S392T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.683 269398 chr3 49160718 49160718 A G rs770830943 LAMB2 Synonymous SNV P1357P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 269399 chr2 97327115 97327115 A T rs1026754617 FER1L5 Nonsynonymous SNV S278C 0 0 0 1 0 0 0.003 0 0 0 0 0 5.904 269400 chr3 129120584 129120584 T C rs1021907075 EFCAB12 Nonsynonymous SNV D524G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 269401 chr3 52537866 52537866 T G rs764362451 STAB1 Nonsynonymous SNV F324V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 269402 chr3 52727709 52727711 AAT - rs774379142 GNL3 I464del 0 0 0.003 0 0 0 0 1 0 0 0 0 269403 chr15 74500067 74500067 T C STRA6 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 1.486 269404 chr3 54596957 54596957 G A rs562359468 CACNA2D3 Synonymous SNV P225P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 269405 chr3 58510182 58510182 G A ACOX2 Synonymous SNV Y499Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.544 269406 chr15 78486943 78486943 T C rs1048969131 ACSBG1 Nonsynonymous SNV I120V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 269407 chr3 139062910 139062912 GAG - rs988997203 MRPS22 R15del 0 0.003 0 0 0 1 0 0 0 0 0 0 269408 chr3 167761233 167761233 T C rs144070059 GOLIM4 Nonsynonymous SNV N151D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 4.824 269409 chr12 57431753 57431753 G A rs139153558 MYO1A Stop gain R621X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 269410 chr15 83499765 83499765 C T rs373672470 WHAMM Nonsynonymous SNV R686C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 269411 chr3 98235569 98235569 G A CLDND1 Synonymous SNV L137L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.1 269412 chr3 174951784 174951784 G C rs199529620 NAALADL2 Nonsynonymous SNV Q203H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.629 269413 chr15 85164652 85164652 G A rs578058785 ZSCAN2 Nonsynonymous SNV R409Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 269414 chr3 99537016 99537016 G C HP09053 0 0 0.003 0 0 0 0 1 0 0 0 0 0.776 269415 chr2 133540428 133540428 G A rs775152473 NCKAP5 Nonsynonymous SNV T1319M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 269416 chr1 169349821 169349821 T G rs760023199 BLZF1 Nonsynonymous SNV F257L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 269417 chr3 151156343 151156343 A C rs144167004 IGSF10 Nonsynonymous SNV F29L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.755 269418 chr3 179096185 179096185 C T rs138738004 MFN1 Synonymous SNV T462T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 269419 chr2 150071156 150071156 T C rs149020803 LYPD6B Nonsynonymous SNV S148P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 269420 chr15 89448988 89448988 C T rs148279922 MFGE8 Nonsynonymous SNV G185R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 31 269421 chr2 152390751 152390751 G A NEB Nonsynonymous SNV T5431I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.37 269422 chr4 110788916 110788916 C T rs184666295 LRIT3 Nonsynonymous SNV R237C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 269423 chr3 126071539 126071539 A T KLF15 Nonsynonymous SNV I76N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 269424 chr3 167051684 167051684 A C rs758478074 ZBBX Nonsynonymous SNV N206K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 269425 chr3 127327354 127327354 G A rs373695678 MCM2 Nonsynonymous SNV E411K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 269426 chr15 90245103 90245103 C T rs748427723 WDR93 Synonymous SNV V42V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.399 269427 chr15 90335754 90335754 G A rs775432882 ANPEP Synonymous SNV N763N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.164 269428 chr3 14177391 14177391 G A rs730880226 TMEM43 Nonsynonymous SNV G289R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 269429 chr3 128973859 128973859 T C COPG1 Nonsynonymous SNV M144T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 269430 chr3 186917566 186917566 G A rs777465080 RTP1 Nonsynonymous SNV G167D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 269431 chr3 186917567 186917567 C G rs189472632 RTP1 Synonymous SNV G167G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 269432 chr3 186917571 186917571 C G rs370237858 RTP1 Nonsynonymous SNV R169G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.465 269433 chr3 186917572 186917572 G A rs772092594 RTP1 Nonsynonymous SNV R169H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.938 269434 chr3 186917576 186917576 C T rs776889434 RTP1 Synonymous SNV G170G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.706 269435 chr4 128627697 128627697 T A rs142618883 INTU Nonsynonymous SNV I615N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 269436 chr2 167141319 167141319 G A rs200568743 SCN9A Nonsynonymous SNV R540C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 269437 chr15 99544419 99544420 GA - PGPEP1L L6Rfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 269438 chr3 131102151 131102151 C T NUDT16 Nonsynonymous SNV S185F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.709 269439 chr4 134071840 134071840 A G PCDH10 Nonsynonymous SNV E182G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 269440 chr3 196214434 196214434 G A rs142489941 RNF168 Nonsynonymous SNV R132W 0 0 0 2 0 0 0.005 0 0 0 0 1 25.3 269441 chr3 159614550 159614550 T G rs750259199 IQCJ-SCHIP1, SCHIP1 Nonsynonymous SNV M252R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 269442 chr1 183617444 183617444 T C rs779211891 APOBEC4 Nonsynonymous SNV Y158C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 269443 chr2 173894963 173894963 G A rs61756296 RAPGEF4 Nonsynonymous SNV R657H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 269444 chr4 16258070 16258070 C A rs143149188 TAPT1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 269445 chr2 179554545 179554545 G T rs376754004 TTN Nonsynonymous SNV A9370D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.7 269446 chr3 38627372 38627372 G A rs755194086 SCN5A Nonsynonymous SNV S866L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 269447 chr4 169382895 169382895 T C rs755313565 DDX60L Synonymous SNV A187A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.361 269448 chr3 195934290 195934290 G A rs781156645 ZDHHC19 Synonymous SNV A222A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 269449 chr1 197072434 197072434 T A rs141715950 ASPM Nonsynonymous SNV M1983L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 269450 chr3 196842920 196842920 T C rs148803946 DLG1 Nonsynonymous SNV T358A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 269451 chr3 197483325 197483325 A G rs150632366 FYTTD1 Synonymous SNV E44E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.498 269452 chr3 197618326 197618326 G A rs781421659 IQCG Synonymous SNV S396S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.61 269453 chr1 200973912 200973912 G A rs766250349 KIF21B Synonymous SNV I294I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.2 269454 chr3 185970902 185970902 C T rs148285460 DGKG Nonsynonymous SNV R502H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 269455 chr16 2035921 2035921 G C GFER Synonymous SNV L170L 0.002 0 0 0 2 0 0 0 0 0 0 0 1.577 269456 chr1 202532015 202532015 C T rs753256240 PPP1R12B Nonsynonymous SNV R77C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 269457 chr3 193272451 193272452 GT - ATP13A4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 269458 chr3 42956361 42956361 C T ZNF662 Nonsynonymous SNV H292Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 269459 chr16 3433695 3433695 G A rs542893542 ZSCAN32 Synonymous SNV N128N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.321 269460 chr16 3580593 3580593 C T rs142463656 CLUAP1 Synonymous SNV I152I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 269461 chr3 46775345 46775345 G A PRSS46P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 269462 chr16 3640664 3640664 C T rs139287784 SLX4 Nonsynonymous SNV G992E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.35 269463 chr16 3642845 3642845 C T rs776707468 SLX4 Nonsynonymous SNV A728T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 269464 chr3 183906035 183906035 C T ABCF3 Nonsynonymous SNV R220W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 269465 chr4 37448425 37448425 A C NWD2 Synonymous SNV A1605A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 269466 chr3 47454547 47454547 C T rs766217046 PTPN23 Nonsynonymous SNV R1469W 0.004 0 0 0 5 0 0 0 0 0 0 0 26.1 269467 chr1 207782682 207782682 A G rs189863730 CR1 Nonsynonymous SNV S1532G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.952 269468 chr3 184922506 184922506 A C rs149115164 EHHADH Nonsynonymous SNV I107S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.3 269469 chr3 48488249 48488249 C A ATRIP-TREX1 0.003 0 0 0 4 0 0 0 0 0 0 0 13.51 269470 chr3 186435437 186435437 G C rs768798227 KNG1 Nonsynonymous SNV A36P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 269471 chr3 50369095 50369095 G A rs376674291 RASSF1 Nonsynonymous SNV R68C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 269472 chr16 11785583 11785583 T C rs142985387 TXNDC11 Nonsynonymous SNV D36G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.036 269473 chr2 214142637 214142637 - CTTCACGGCAGCC rs144537453 SPAG16-DT 0.002 0 0 0 2 0 0 0 0 0 0 0 269474 chr3 51929076 51929076 C T rs373666464 IQCF1 Nonsynonymous SNV A150T 0.004 0 0 0 5 0 0 0 0 0 0 0 25.9 269475 chr1 21599377 21599377 G A rs753353105 ECE1 Nonsynonymous SNV A91V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 269476 chr3 38768095 38768095 A G rs765046340 SCN10A 0.002 0 0 0 2 0 0 0 0 0 0 0 21 269477 chr4 56301755 56301755 T C CLOCK Nonsynonymous SNV R790G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 269478 chr3 52850917 52850917 T C rs373701994 ITIH4 Synonymous SNV L788L 0.004 0 0 0 5 0 0 0 0 0 0 0 9.026 269479 chr3 62357798 62357798 T C FEZF2 Nonsynonymous SNV N249S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 269480 chr16 23569380 23569380 G T rs760347497 UBFD1 Nonsynonymous SNV E45D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.41 269481 chr2 220355267 220355267 G A rs368875454 SPEG Nonsynonymous SNV E3020K 0.002 0 0 0 2 0 0 0 0 0 0 0 34 269482 chr16 25228600 25228600 G A rs140471716 AQP8 Nonsynonymous SNV E32K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 269483 chr16 27246529 27246529 C T NSMCE1 Synonymous SNV T76T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 269484 chr1 226453307 226453307 G A rs371182825 LIN9 Nonsynonymous SNV P229L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 269485 chr3 9106134 9106134 C G SRGAP3 Nonsynonymous SNV E206D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.1 269486 chr1 227381501 227381501 T C rs201936989 CDC42BPA Synonymous SNV L195L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.791 269487 chr3 9788936 9788936 A G BRPF1 Nonsynonymous SNV N1088S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.316 269488 chr4 7436359 7436359 G A rs371034367 PSAPL1 Nonsynonymous SNV T83M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.951 269489 chr4 76781884 76781884 G T PPEF2 Nonsynonymous SNV A733D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.097 269490 chr16 31477460 31477460 G A rs11863886 ARMC5 Synonymous SNV A686A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.891 269491 chr16 31503524 31503524 G A rs36062238 C16orf58 Nonsynonymous SNV R409W 0.001 0 0 0 1 0 0 0 0 0 0 0 14 269492 chr16 31519500 31519500 G A rs75670535 C16orf58 Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.899 269493 chr3 49153506 49153506 C G USP19 Nonsynonymous SNV G366A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 269494 chr3 49159670 49159670 C T LAMB2 Synonymous SNV V1569V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.372 269495 chr4 8007050 8007050 T C rs746404270 MIR95 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 269496 chr3 4358225 4358225 T G SETMAR Nonsynonymous SNV I162M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.69 269497 chr3 44496672 44496672 C T rs148541292 ZNF445 Nonsynonymous SNV E124K 0.001 0 0 4 1 0 0.01 0 0 0 0 0 17.66 269498 chr4 8230049 8230049 G A rs145120083 SH3TC1 Synonymous SNV T800T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 269499 chr4 107229997 107229997 G A rs750999870 TBCK Nonsynonymous SNV R41C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 269500 chr3 52783779 52783779 G C NEK4 Nonsynonymous SNV L390V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 269501 chr4 89183811 89183811 T C rs149003637 PPM1K Nonsynonymous SNV Y352C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 269502 chr3 46747349 46747349 C T rs746409545 TMIE Nonsynonymous SNV R2C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 269503 chr16 67692258 67692258 C T rs201965477 ACD Synonymous SNV P279P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.471 269504 chr3 47289563 47289563 T C KIF9 Nonsynonymous SNV N358S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 10.82 269505 chr3 47450284 47450284 C T rs368662085 PTPN23 Nonsynonymous SNV T324M 0.001 0 0 4 1 0 0.01 0 0 0 0 0 23.3 269506 chr4 110650766 110650766 C T rs150132508 PLA2G12A Nonsynonymous SNV C67Y 0.002 0 0 0 2 0 0 0 0 0 0 0 33 269507 chr16 67979111 67979111 A G rs17240413 SLC12A4 Synonymous SNV N1017N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 269508 chr16 69748929 69748929 G A rs140464487 NQO1 Stop gain R119X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 269509 chr4 110765352 110765352 G A rs148666824 RRH Synonymous SNV X338X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.33 269510 chr5 102484887 102484887 C T rs782705879 PPIP5K2 Nonsynonymous SNV A259V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 269511 chr4 113524705 113524705 G A rs746470315 ZGRF1 Nonsynonymous SNV T984M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.235 269512 chr1 241912929 241912929 C G rs200339413 WDR64 Nonsynonymous SNV H559D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 269513 chr3 49159178 49159178 G A rs141473691 LAMB2 Nonsynonymous SNV A1680V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.2 269514 chr16 72830629 72830629 C T ZFHX3 Synonymous SNV E1070E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.647 269515 chr3 50645153 50645153 C T rs139699451 CISH Nonsynonymous SNV R221H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 269516 chr4 1379731 1379731 T C rs373112434 UVSSA Synonymous SNV F704F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.65 269517 chr3 51929332 51929332 C T rs756995706 IQCF1 Synonymous SNV K64K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.841 269518 chr1 24776099 24776099 C G rs780800864 NIPAL3 Nonsynonymous SNV P14A 0 0.003 0 0 0 1 0 0 0 0 0 0 25 269519 chr3 52539743 52539743 C T rs139998974 STAB1 Synonymous SNV S547S 0.001 0 0 4 1 0 0.01 0 0 0 0 0 14.88 269520 chr14 20872835 20872835 G A TEP1 Stop gain R323X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 37 269521 chr1 247886759 247886759 G T rs772534070 OR14A2 Nonsynonymous SNV A196E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.484 269522 chr2 26203816 26203816 C T KIF3C Nonsynonymous SNV R324Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 269523 chr5 131973761 131973761 T C rs771483160 TH2LCRR 0 0 0.003 0 0 0 0 1 0 0 0 0 7.055 269524 chr16 85942721 85942721 A G rs11545564 IRF8 Synonymous SNV Q110Q 0.004 0 0 0 5 0 0 0 0 0 0 0 Benign 5.83 269525 chr4 155243509 155243511 GAA - rs759653875 DCHS2 L1383del 0.001 0 0 0 1 0 0 0 0 0 0 0 269526 chr1 24995683 24995683 A T SRRM1 Nonsynonymous SNV R518S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 269527 chr16 88494603 88494603 G T rs536586591 ZNF469 Nonsynonymous SNV S242I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24.2 269528 chr16 88494604 88494604 C T rs555256402 ZNF469 Synonymous SNV S242S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.02 269529 chr4 159789672 159789672 T C rs1031027990 FNIP2 Synonymous SNV A274A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.218 269530 chr14 23870113 23870113 C T rs868562352 MYH6 Synonymous SNV V405V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 269531 chr16 88791471 88791471 C A rs753919544 PIEZO1 Nonsynonymous SNV G1394C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 269532 chr5 140588734 140588734 C T rs782114108 PCDHB12 Synonymous SNV L85L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.189 269533 chr5 140603977 140603977 A G PCDHB14 Synonymous SNV E300E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.684 269534 chr1 27699641 27699641 C A rs758972568 FCN3 Nonsynonymous SNV G116W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 269535 chr16 89258744 89258744 G A rs926049647 CDH15 Nonsynonymous SNV G583S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.285 269536 chr5 145239363 145239363 T C rs200294198 GRXCR2 Nonsynonymous SNV Y227C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 269537 chr5 147040734 147040734 A G rs151282096 JAKMIP2 Nonsynonymous SNV I93T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 269538 chr4 184129260 184129260 C T rs200694014 WWC2 Synonymous SNV Y132Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.39 269539 chr4 126370647 126370647 G A rs12508222 FAT4 Nonsynonymous SNV D2828N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.33 269540 chr4 177098623 177098623 T A rs199648327 WDR17 Nonsynonymous SNV S1184T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.23 269541 chr17 1132258 1132258 G A ABR Nonsynonymous SNV P223S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.097 269542 chr17 1173905 1173905 C T rs993709746 BHLHA9 Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 269543 chr5 150663738 150663738 G A SLC36A3 Stop gain Q281X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 269544 chr4 186337020 186337020 T C rs150250628 UFSP2 Nonsynonymous SNV H112R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.033 269545 chr1 36941233 36941233 C T rs369635490 CSF3R Nonsynonymous SNV V36I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 269546 chr4 148555396 148555398 ATC - rs866722179 TMEM184C S380del 0.001 0 0 0 1 0 0 0 0 0 0 0 269547 chr4 113539808 113539808 T C rs773197260 ZGRF1 Nonsynonymous SNV T464A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 269548 chr1 39775303 39775303 A G rs139801751 MACF1 Nonsynonymous SNV S956G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 26.2 269549 chr4 153332778 153332778 C G FBXW7 Nonsynonymous SNV V60L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.618 269550 chr4 25834624 25834624 C T rs146027878 SEL1L3 Nonsynonymous SNV G329E 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 26.8 269551 chr14 61747493 61747493 C T rs756372774 TMEM30B Nonsynonymous SNV G125S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 269552 chr5 171766405 171766405 G A rs142812825 SH3PXD2B Synonymous SNV H568H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 269553 chr5 175958535 175958535 C T rs772533562 RNF44 Nonsynonymous SNV A132T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 269554 chr1 45268764 45268764 G C PLK3 Nonsynonymous SNV R296P 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 269555 chr2 85843553 85843553 G A rs756071519 USP39 Nonsynonymous SNV D79N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 269556 chr4 3768926 3768926 C A rs533453215 ADRA2C Nonsynonymous SNV A198D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.78 269557 chr4 134072764 134072764 G T rs148933278 PCDH10 Nonsynonymous SNV R490L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 269558 chr4 40810421 40810421 G A rs748296950 NSUN7 Nonsynonymous SNV R541Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 269559 chr17 4799817 4799817 G A rs372348825 MINK1 Nonsynonymous SNV V1200I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 269560 chr2 96951014 96951014 C A SNRNP200 Nonsynonymous SNV K1356N 0.002 0 0 0 2 0 0 0 0 0 0 0 32 269561 chr1 49128905 49128905 G A rs574037988 AGBL4 Nonsynonymous SNV R227W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 269562 chr17 6555266 6555266 G A rs571052314 C17orf100 Synonymous SNV S11S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.852 269563 chr4 15504459 15504459 T G rs186264635 CC2D2A Nonsynonymous SNV S117R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 269564 chr1 53347233 53347233 A G ZYG11A Nonsynonymous SNV M272V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 269565 chr1 53370756 53370756 G A rs375624978 ECHDC2 Nonsynonymous SNV S124L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 269566 chr5 180057234 180057234 C T rs145513301 FLT4 Synonymous SNV T168T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 269567 chr3 100511556 100511556 C G ABI3BP Nonsynonymous SNV E649Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 269568 chr4 56283407 56283407 A G rs372893311 TMEM165 Nonsynonymous SNV D201G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.3 269569 chr3 107941167 107941167 C A rs112224477 IFT57 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 25.4 269570 chr1 54708924 54708924 T C SSBP3 Nonsynonymous SNV M207V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 269571 chr3 108076887 108076887 G T rs185582958 HHLA2 Synonymous SNV L294L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.504 269572 chr4 56820421 56820421 C A CEP135 Nonsynonymous SNV A115D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.406 269573 chr4 15964313 15964313 G A rs373766096 FGFBP2 Nonsynonymous SNV T147M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.88 269574 chr5 32089393 32089393 A G rs202124378 PDZD2 Nonsynonymous SNV T1947A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 269575 chr4 57314705 57314705 T C PAICS Nonsynonymous SNV I172T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 269576 chr4 187153441 187153441 A G rs754586302 KLKB1 Synonymous SNV K73K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.79 269577 chr4 62933893 62933893 G T ADGRL3 Nonsynonymous SNV R1207I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.78 269578 chr4 23886388 23886388 G A rs142669571 PPARGC1A Nonsynonymous SNV S74L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 269579 chr3 113119440 113119440 C T rs140356033 CFAP44 Nonsynonymous SNV V476M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.051 269580 chr4 177249405 177249405 T C SPCS3 Nonsynonymous SNV I156T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.84 269581 chr3 121207760 121207760 C A rs772588884 POLQ Nonsynonymous SNV A1340S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.243 269582 chr4 20255495 20255495 C A rs769098401 SLIT2 Synonymous SNV I19I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 269583 chr5 678060 678060 C G rs61731452 TPPP Nonsynonymous SNV G39A 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Benign 0.002 269584 chr5 68565119 68565119 C T rs201088666 CDK7 Nonsynonymous SNV P181L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 269585 chr4 79258956 79258956 G A rs754813322 FRAS1 Nonsynonymous SNV V803M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.646 269586 chr4 26744178 26744178 C T rs373829735 TBC1D19 Nonsynonymous SNV L361F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 269587 chr5 74021474 74021474 G A rs138756897 GFM2 Synonymous SNV C626C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 269588 chr5 74434703 74434703 G A rs929398871 ANKRD31 Nonsynonymous SNV S1177F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 269589 chr4 55976856 55976856 C T rs113965434 KDR Synonymous SNV A352A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 269590 chr4 3768603 3768603 G A rs368466055 ADRA2C Synonymous SNV L90L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.788 269591 chr17 26919183 26919183 C T rs142483214 SPAG5 Nonsynonymous SNV R360H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 269592 chr17 27492986 27492986 C T rs747781096 MYO18A Nonsynonymous SNV E325K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 269593 chr17 27613196 27613196 T C NUFIP2 Nonsynonymous SNV T606A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 269594 chr3 130107827 130107827 G A rs377358492 COL6A5 Nonsynonymous SNV V756M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23 269595 chr4 995574 995574 C - IDUA Stop gain L101* 0 0 0 1 0 0 0.003 0 0 0 0 0 269596 chr3 130422584 130422584 C T rs775492380 PIK3R4 Synonymous SNV G1027G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.44 269597 chr5 102611971 102611971 C T rs371245452 C5orf30 Synonymous SNV Y117Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.48 269598 chr5 94857949 94857949 G A rs373485338 TTC37 Nonsynonymous SNV A607V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 269599 chr4 5624572 5624572 G A rs143262952 EVC2 Synonymous SNV A651A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.624 269600 chr20 1099497 1099497 T C rs766845008 PSMF1 Synonymous SNV H27H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.315 269601 chr6 11565925 11565925 G A rs376653266 TMEM170B Nonsynonymous SNV A42T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 269602 chr4 78082882 78082882 A G rs747803534 CCNG2 Synonymous SNV L229L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.875 269603 chr3 142279239 142279239 T C ATR Synonymous SNV K469K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.311 269604 chr6 116784678 116784678 G T CALHM6 Nonsynonymous SNV S81I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 269605 chr3 142280089 142280089 C T ATR Nonsynonymous SNV E449K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.48 269606 chr4 79328846 79328846 G T rs200689785 FRAS1 Nonsynonymous SNV A1387S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.9 269607 chr4 79328847 79328847 C T rs201864889 FRAS1 Nonsynonymous SNV A1387V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 269608 chr5 125928405 125928405 T A rs376294954 ALDH7A1 Nonsynonymous SNV Y88F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.1 269609 chr5 130828394 130828394 G A rs147566457 RAPGEF6 Nonsynonymous SNV R538C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 269610 chr6 12121028 12121028 G T HIVEP1 Nonsynonymous SNV V334L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 269611 chr20 17608161 17608161 G C rs148741935 RRBP1 Synonymous SNV A972A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.953 269612 chr5 134345125 134345125 A G rs142494932 CATSPER3 Nonsynonymous SNV K294R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 269613 chr4 7436408 7436408 A G rs368529906 PSAPL1 Nonsynonymous SNV C67R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 269614 chr6 134435799 134435799 G T rs59511756 HMGA1P7 0 0 0.007 0 0 0 0 2 0 0 1 0 9.079 269615 chr5 138730106 138730106 G A rs748561015 PROB1 Nonsynonymous SNV A222V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.107 269616 chr6 143074553 143074553 A C HIVEP2 Synonymous SNV A2344A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 269617 chr17 40010016 40010016 C A rs539841671 KLHL11 Synonymous SNV V701V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.259 269618 chr20 2820435 2820435 T C rs201552490 PCED1A Nonsynonymous SNV I42V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.275 269619 chr6 152686105 152686105 A G rs138693624 SYNE1 Nonsynonymous SNV V3348A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 20.7 269620 chr3 186459824 186459824 C T rs542069764 KNG1 Nonsynonymous SNV P547S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.957 269621 chr6 162864388 162864388 C G rs368134308 PRKN Nonsynonymous SNV R42P 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 33 269622 chr15 79265720 79265720 G A RASGRF1 Synonymous SNV T411T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.89 269623 chr20 44594409 44594409 A C ZNF335 Nonsynonymous SNV D320E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 269624 chr17 60751527 60751527 G A rs201943939 MRC2 Nonsynonymous SNV R522Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 269625 chr6 25106609 25106609 C T CMAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 269626 chr20 49626401 49626401 C G KCNG1 Nonsynonymous SNV D159H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 269627 chr5 168114117 168114117 C T SLIT3 Nonsynonymous SNV E1068K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 269628 chr5 173317366 173317366 C T rs201752532 CPEB4 Synonymous SNV F210F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.919 269629 chr6 34511906 34511906 G A rs529778861 SPDEF Synonymous SNV P109P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.873 269630 chr17 72349401 72349401 C T rs374897418 KIF19 Synonymous SNV T727T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 269631 chr5 140262012 140262012 G C rs201675412 PCDHA13 Synonymous SNV G53G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.45 269632 chr5 176520431 176520431 G A rs55879131 FGFR4 Nonsynonymous SNV G386S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.91 269633 chr5 140589294 140589294 G T rs200437596 PCDHB12 Nonsynonymous SNV G272V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23.7 269634 chr5 140730599 140730599 G A rs531286057 PCDHGB1 Nonsynonymous SNV V258M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 269635 chr6 37616904 37616904 - GCA rs768762270 MDGA1 L582_P583insL 0 0 0.003 0 0 0 0 1 0 0 0 0 269636 chr6 38862561 38862561 A G rs373858239 DNAH8 Nonsynonymous SNV I2673V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 269637 chr3 46003839 46003839 A C FYCO1 Stop gain Y1105X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 269638 chr5 179306109 179306109 C T rs562935868 TBC1D9B Nonsynonymous SNV R502Q 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 26.6 269639 chr5 37301630 37301630 A G NUP155 Nonsynonymous SNV I1093T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 269640 chr5 150097882 150097882 C T DCTN4 Nonsynonymous SNV E286K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 269641 chr17 76568827 76568827 C T rs373888158 DNAH17 Synonymous SNV P165P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 269642 chr5 169506149 169506149 G A rs199698060 DOCK2 Nonsynonymous SNV R1722Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.9 269643 chr17 78013955 78013955 C T rs147879748 CCDC40 Synonymous SNV T146T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.406 269644 chr5 176638001 176638001 C A rs368078696 NSD1 Synonymous SNV L867L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.741 269645 chr17 78184545 78184545 T G SGSH Synonymous SNV S405S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.511 269646 chr21 32502566 32502566 G A rs372961799 TIAM1 Nonsynonymous SNV T370M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 269647 chr5 159821731 159821731 A G ZBED8 Nonsynonymous SNV V256A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.786 269648 chr21 37618855 37618855 C A DOP1B Nonsynonymous SNV S1526Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 269649 chr5 180338369 180338369 C T rs749688648 BTNL8 Nonsynonymous SNV T27M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.024 269650 chr5 64103444 64103444 G A rs765558259 CWC27 Synonymous SNV L319L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.994 269651 chr6 7565597 7565597 G A rs764596108 DSP Synonymous SNV A261A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 269652 chr5 56777702 56777702 G C ACTBL2 Nonsynonymous SNV T278R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 269653 chr3 99567156 99567156 G A rs372595024 FILIP1L Stop gain R882X 0.002 0 0 0 2 0 0 0 0 0 0 0 46 269654 chr5 177547455 177547455 A C rs978309349 N4BP3 Nonsynonymous SNV T203P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 269655 chr21 45107834 45107834 C G rs755634753 RRP1B Nonsynonymous SNV L527V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.82 269656 chr5 178413314 178413314 G A rs149210562 GRM6 Synonymous SNV A647A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.908 269657 chr16 21038386 21038386 C T rs200144864 DNAH3 Nonsynonymous SNV A1789T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 269658 chr5 41048515 41048515 C T rs866591320 MROH2B Nonsynonymous SNV G532E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 269659 chr16 21716599 21716599 G A rs370590643 OTOA Nonsynonymous SNV A40T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 269660 chr16 22269078 22269078 A G EEF2K Nonsynonymous SNV N339S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.293 269661 chr5 180420155 180420155 T C rs72650622 BTNL3 Nonsynonymous SNV V131A 0 0 0 2 0 0 0.005 0 0 0 0 1 16.22 269662 chr5 180651239 180651239 G A rs141399091 TRIM41 Synonymous SNV A80A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.588 269663 chr16 29821436 29821441 GCGGCG - rs773951708 MAZ A142_A143del 0 0 0 1 0 0 0.003 0 0 0 0 0 269664 chr22 18299463 18299463 C T rs371090779 MICAL3 Nonsynonymous SNV R1813Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.82 269665 chr22 19965586 19965586 G A rs768347474 ARVCF Synonymous SNV S531S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 269666 chr5 37184968 37184968 G C rs150556877 CPLANE1 Nonsynonymous SNV S1468C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 269667 chr18 46798603 46798603 A G rs145408029 DYM Nonsynonymous SNV I398T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.9 269668 chr7 102109026 102109026 G A rs145931791 LRWD1 Synonymous SNV T163T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 269669 chr16 57494010 57494010 A C rs756608060 COQ9 Synonymous SNV A305A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.165 269670 chr7 102760133 102760133 G A rs1018716199 NAPEPLD Stop gain R278X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 269671 chr7 106526681 106526681 C A rs1047971651 PIK3CG Nonsynonymous SNV L992I 0 0 0.003 0 0 0 0 1 0 0 0 0 27 269672 chr4 15689016 15689018 CTA - rs542795054 FAM200B T140del 0.002 0 0 0 2 0 0 0 0 0 0 0 269673 chr7 107600182 107600182 G A LAMB1 Synonymous SNV N804N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 269674 chr18 59780386 59780386 C A rs113621756 PIGN Nonsynonymous SNV G472V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 269675 chr18 60036611 60036611 G A rs753971282 TNFRSF11A Synonymous SNV T473T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.85 269676 chr5 79616127 79616127 G A rs774311273 SPZ1 Synonymous SNV R31R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.034 269677 chr5 72469146 72469146 G A rs202228072 TMEM174 Nonsynonymous SNV A26T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 269678 chr6 131186742 131186742 C T rs61731766 EPB41L2 Synonymous SNV T622T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.74 269679 chr7 126086379 126086379 A G rs760711248 GRM8 Synonymous SNV A621A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.287 269680 chr18 72775777 72775777 G A rs182605322 ZNF407 Nonsynonymous SNV D2034N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.221 269681 chr4 183721267 183721267 G T TENM3 Synonymous SNV L2621L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.597 269682 chr18 77170478 77170478 C T rs755515445 NFATC1 Nonsynonymous SNV P68L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.24 269683 chr6 143093416 143093416 G A rs531184121 HIVEP2 Synonymous SNV A820A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.764 269684 chr7 137590537 137590537 C T rs757149656 CREB3L2 Nonsynonymous SNV A213T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 269685 chr6 135239723 135239723 G A rs761253933 ALDH8A1 Nonsynonymous SNV H382Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 269686 chr6 13794132 13794132 C T MCUR1 Synonymous SNV V301V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 269687 chr6 147106846 147106846 A G ADGB Nonsynonymous SNV E1438G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.75 269688 chr22 40045744 40045744 C T CACNA1I Synonymous SNV S567S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.068 269689 chr4 24801446 24801446 C T rs376624840 SOD3 Synonymous SNV G101G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.15 269690 chr4 3174062 3174062 C T HTT Synonymous SNV L1294L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.2 269691 chr4 3446462 3446462 T C HGFAC 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 269692 chr6 15507453 15507453 A T rs762867403 JARID2 Synonymous SNV G704G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.599 269693 chr6 155532363 155532363 A G rs201988217 TIAM2 Synonymous SNV T1030T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.032 269694 chr19 1433794 1433794 C T rs767783501 DAZAP1 Nonsynonymous SNV L369F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.06 269695 chr7 149152828 149152828 G C rs76797088 ZNF777 Nonsynonymous SNV P96A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.817 269696 chr7 149152860 149152860 G A rs115735463 ZNF777 Nonsynonymous SNV A85V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.52 269697 chr7 149488698 149488698 C T rs115034729 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 269698 chr19 2234111 2234111 T A rs762512589 MIR1227 0.001 0 0 0 1 0 0 0 0 0 0 0 5.409 269699 chr19 2235768 2235768 G A PLEKHJ1 Synonymous SNV F74F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 269700 chr7 151722930 151722930 G A GALNT11 Nonsynonymous SNV E5K 0 0 0.007 0 0 0 0 2 0 0 1 0 8.747 269701 chr19 3626605 3626605 G A CACTIN Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 269702 chr19 3771607 3771607 G A rs775581464 RAX2 Nonsynonymous SNV A91V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 269703 chr7 154672641 154672641 G A rs746793201 DPP6 Nonsynonymous SNV V601M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 269704 chr6 129663578 129663578 C A rs911570630 LAMA2 Nonsynonymous SNV Q1468K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.85 269705 chr6 137468922 137468922 T C IL22RA2 Synonymous SNV V161V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.248 269706 chr19 5896538 5896538 A G rs768802877 NDUFA11 Nonsynonymous SNV V80A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 269707 chr6 22287793 22287793 G T rs150543868 PRL Synonymous SNV I174I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.119 269708 chr6 26056275 26056275 G A rs377738358 H1-2 Nonsynonymous SNV P128S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.255 269709 chr6 26056453 26056453 G A rs575960322 H1-2 Synonymous SNV A68A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.161 269710 chr6 24145875 24145875 G A rs775560059 NRSN1 Nonsynonymous SNV D97N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.55 269711 chr6 26199428 26199428 G C H2AC7 Nonsynonymous SNV A15G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.66 269712 chr6 27100869 27100869 C T rs369680334 H2AC11 Stop gain Q7X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 269713 chr19 7964768 7964768 C G rs146365216 LRRC8E Nonsynonymous SNV P325R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 269714 chr7 40132396 40132396 C G rs375191394 CDK13 Nonsynonymous SNV P1083R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 269715 chr19 8387763 8387763 C T KANK3 Nonsynonymous SNV G809E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 269716 chr2 128870784 128870784 A G rs149605444 UGGT1 Synonymous SNV S216S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.428 269717 chr6 34839368 34839368 - C rs768417537 UHRF1BP1 Frameshift insertion I1333Hfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 269718 chr2 137928490 137928490 G A rs778330063 THSD7B Nonsynonymous SNV V569I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.613 269719 chr6 35987465 35987465 C T rs201560074 SLC26A8 Nonsynonymous SNV S7N 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 7.106 269720 chr2 143913212 143913212 G T rs756882708 ARHGAP15 Nonsynonymous SNV K51N 0 0.003 0 0 0 1 0 0 0 0 0 0 22 269721 chr6 160494850 160494850 C T rs1023665073 IGF2R Nonsynonymous SNV T1670I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 269722 chr7 5428059 5428059 G A TNRC18 Nonsynonymous SNV L466F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 269723 chr6 22570381 22570383 GAG - HDGFL1 E194del 0.002 0 0 0 2 0 0 0 0 0 0 0 269724 chr4 88732518 88732518 G C IBSP Nonsynonymous SNV G137A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 269725 chr6 42231239 42231244 GGCGGA - rs377404285 TRERF1 P569_P570del 0.001 0 0 0 1 0 0 0 0 0 0 0 269726 chr7 72848976 72848976 G A FZD9 Synonymous SNV P213P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.163 269727 chr6 42995171 42995171 G A rs180946521 RRP36 Nonsynonymous SNV R195Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.94 269728 chr6 169641945 169641945 C T rs577401935 THBS2 Nonsynonymous SNV R268H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.669 269729 chr19 9065342 9065342 G A rs775782140 MUC16 Synonymous SNV T7368T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.352 269730 chr2 160289544 160289544 T C rs370012724 BAZ2B Nonsynonymous SNV R479G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 269731 chr6 39869132 39869132 G A rs370518716 DAAM2 Nonsynonymous SNV E956K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 269732 chr6 43333070 43333070 G A rs372987629 ZNF318 Nonsynonymous SNV R170W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 269733 chr6 44217559 44217559 C T rs370988754 HSP90AB1 Nonsynonymous SNV R168C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 269734 chr6 42141500 42141500 C T rs104893968 GUCA1A Nonsynonymous SNV P50L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 269735 chr7 84685144 84685144 T A SEMA3D Synonymous SNV P250P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.848 269736 chr6 43172498 43172498 G T rs146947829 CUL9 Nonsynonymous SNV S1451I 0 0.003 0 0 0 1 0 0 0 0 0 0 25 269737 chr2 170127601 170127601 G T LRP2 Synonymous SNV L711L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.812 269738 chr17 9631906 9631906 C T rs781718407 USP43 Nonsynonymous SNV P986S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.527 269739 chr2 171264326 171264326 G T rs367631065 MYO3B Nonsynonymous SNV Q874H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.35 269740 chr6 44243851 44243851 C G TMEM151B Nonsynonymous SNV R430G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 269741 chr2 174223463 174223463 G A rs139753635 CDCA7 Synonymous SNV K15K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 7.671 269742 chr7 966223 966223 A G rs531155380 ADAP1 Nonsynonymous SNV S19P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.522 269743 chr6 39082718 39082718 G A SAYSD1 Nonsynonymous SNV R50W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 269744 chr2 176987908 176987908 G T HOXD9 Nonsynonymous SNV G138C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.986 269745 chr5 128301933 128301933 T C SLC27A6 Synonymous SNV L35L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 269746 chr19 11426476 11426476 A T rs912779228 TSPAN16 Nonsynonymous SNV I208F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 269747 chr19 11688095 11688095 A G rs768659695 ACP5 Nonsynonymous SNV L13S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 269748 chr6 55638980 55638980 T C rs80225326 BMP5 Synonymous SNV Q298Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.596 269749 chr19 12574813 12574813 C T rs746469752 ZNF709 Synonymous SNV E641E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.722 269750 chr6 35479525 35479525 C T rs377105125 TULP1 Synonymous SNV A83A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.16 269751 chr8 105263920 105263920 A G RIMS2 Nonsynonymous SNV M244V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 269752 chr5 136324267 136324267 T C rs747111809 SPOCK1 Nonsynonymous SNV M258V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 269753 chr8 11292400 11292400 G A rs115866599 FAM167A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.17 269754 chr8 119964054 119964054 T G rs961082553 TNFRSF11B Nonsynonymous SNV N3H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 269755 chr6 7410624 7410624 - TTTC RIOK1 Frameshift insertion E300Ffs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 269756 chr19 15354051 15354051 C T rs371213651 BRD4 Synonymous SNV P943P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 269757 chr5 140432538 140432538 A G rs139444803 PCDHB1 Nonsynonymous SNV K495E 0.002 0 0.007 0 2 0 0 2 0 0 0 0 1.8 269758 chr8 125516149 125516149 C T TATDN1 Synonymous SNV T211T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.859 269759 chr8 126094703 126094703 T C WASHC5 Synonymous SNV L113L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.599 269760 chr5 141023975 141023975 G A FCHSD1 Nonsynonymous SNV T558I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.69 269761 chr2 186657929 186657929 G A FSIP2 Synonymous SNV R2022R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.196 269762 chr19 17571586 17571586 C G rs76407302 NXNL1 Nonsynonymous SNV E31D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.778 269763 chr6 90333208 90333208 C T rs754044320 ANKRD6 Nonsynonymous SNV S267L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 269764 chr2 187627527 187627527 C T rs148878744 FAM171B Nonsynonymous SNV R820C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 269765 chr7 100420019 100420019 C T rs146902369 EPHB4 Nonsynonymous SNV V228I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.912 269766 chr5 149512408 149512408 T C PDGFRB Synonymous SNV P280P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 269767 chr19 19625510 19625510 G A rs372913719 TSSK6 Synonymous SNV L243L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.622 269768 chr6 91254324 91254324 C T rs776824877 MAP3K7 Nonsynonymous SNV R413H 0.001 0 0 0 1 0 0 0 0 0 0 0 30 269769 chr6 93956606 93956606 C T rs755970343 EPHA7 Nonsynonymous SNV R872H 0.003 0 0 0 3 0 0 0 0 0 0 0 35 269770 chr19 23927839 23927839 T G rs200628403 ZNF681 Nonsynonymous SNV K171N 0.004 0 0 0 5 0 0 0 0 0 0 0 22.4 269771 chr7 100680292 100680292 A G MUC17 Synonymous SNV G1865G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.26 269772 chr7 100681245 100681421 CAACTCCTGTTGACACCAGCACACCTGTGACCAATTCTACTGAAGCCCGTTCATCTCCTACAACTTCTGAAGGTACCAGCATGCCAACCTCAACTCCTAGTGAAGGAAGCACTCCATTCACAAGTATGCCTGTCAGCACCATGCCGGTAGTTACTTCTGAGGCTAGCACCCTTTCAG - MUC17 N2194_T2252del 0.001 0 0 0 1 0 0 0 0 0 0 0 269773 chr2 219746977 219746977 C T rs146460077 WNT10A Nonsynonymous SNV R70W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 31 269774 chr7 103801623 103801623 T C rs779915853 ORC5 Nonsynonymous SNV N349S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 269775 chr7 112407518 112407518 G A rs773677780 TMEM168 Nonsynonymous SNV R610C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 29.9 269776 chr7 100465564 100465564 G A rs777071077 TRIP6 Nonsynonymous SNV R64Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 269777 chr19 38987516 38987516 G A rs147786842 RYR1 Synonymous SNV T2271T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.75 269778 chr8 27922173 27922173 T A rs368480850 NUGGC Nonsynonymous SNV M263L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 269779 chr8 28827840 28827840 A G HMBOX1 Nonsynonymous SNV S102G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 269780 chr19 39989885 39989885 A - DLL3 G42Afs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 269781 chr8 3057246 3057246 G A rs758410432 CSMD1 Synonymous SNV F1728F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 269782 chr19 40023075 40023075 T A rs137996950 EID2B Nonsynonymous SNV E123V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 269783 chr8 3263722 3263722 T C CSMD1 Nonsynonymous SNV H698R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 269784 chr19 40827863 40827863 C T rs749264866 C19orf47 Nonsynonymous SNV E399K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 269785 chr8 37687452 37687452 C T rs767090988 ADGRA2 Nonsynonymous SNV S213L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 269786 chr8 40011078 40011080 CGT - TCIM V10del 0 0 0.003 0 0 0 0 1 0 0 0 0 269787 chr8 41557058 41557058 G A ANK1 Nonsynonymous SNV L824F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.732 269788 chr8 52321580 52321580 C G rs764592107 PXDNL Synonymous SNV A868A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 269789 chr7 142983834 142983834 C T rs140093432 TMEM139 Nonsynonymous SNV P188L 0.002 0 0.003 3 2 0 0.008 1 0 0 0 0 27.4 269790 chr7 11464347 11464347 - CTC rs768761187 THSD7A G1119_E1120insG 0 0 0 1 0 0 0.003 0 0 0 0 0 269791 chr7 148876260 148876260 C T rs115588763 ZNF398 Synonymous SNV C432C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.87 269792 chr7 151073729 151073729 A G rs749954813 NUB1 Nonsynonymous SNV M525V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 269793 chr2 26706419 26706419 T C rs749879257 OTOF Nonsynonymous SNV S435G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 269794 chr19 47996700 47996700 A G NAPA Synonymous SNV Y131Y 0.002 0 0 0 2 0 0 0 0 0 0 0 12.61 269795 chr9 111640965 111640965 A T ELP1 Nonsynonymous SNV L864Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 269796 chr7 156759011 156759011 T C NOM1 Nonsynonymous SNV M695T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 269797 chr9 116931664 116931664 C T rs144786117 COL27A1 Nonsynonymous SNV S610L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 269798 chr7 23766924 23766924 G A rs140457583 STK31 Nonsynonymous SNV S82N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.799 269799 chr7 158719139 158719139 G T rs11505215 WDR60 Synonymous SNV G615G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.31 269800 chr7 1786012 1786012 G A rs755351530 ELFN1 Nonsynonymous SNV A594T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 269801 chr9 119460322 119460322 C T rs746197672 TRIM32 Nonsynonymous SNV R101W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 269802 chr19 50243103 50243103 G A rs141726866 TSKS Nonsynonymous SNV T570M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 269803 chr7 150553842 150553842 G A rs572549369 AOC1 Nonsynonymous SNV R95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 269804 chr2 46313379 46313379 T C rs779580019 PRKCE Synonymous SNV N490N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.58 269805 chr2 46574051 46574051 T C rs749668860 EPAS1 Synonymous SNV A22A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 269806 chr9 125551293 125551293 C T rs199513321 OR5C1 Nonsynonymous SNV R28C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 269807 chr17 78357597 78357597 C T rs763746779 RNF213 Nonsynonymous SNV R4731W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.3 269808 chr9 130491858 130491858 A G rs768056633 TTC16 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 269809 chr19 52090220 52090220 C T rs143236411 ZNF175 Synonymous SNV N212N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.365 269810 chr7 45003754 45003754 C T rs199620741 MYO1G Nonsynonymous SNV R880H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.4 269811 chr19 53553784 53553784 C T rs989105714 ERVV-2 Nonsynonymous SNV A427V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.049 269812 chr19 53553798 53553798 G A rs971759109 ERVV-2 Nonsynonymous SNV D432N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 269813 chr9 134358219 134358219 G A rs374605292 PRRC2B Synonymous SNV P1766P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.426 269814 chr9 135546004 135546004 G A rs977905479 GTF3C4 Nonsynonymous SNV A7T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 269815 chr9 136517388 136517388 G A rs768364693 DBH Synonymous SNV K452K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.73 269816 chr7 50070866 50070866 T A rs151279050 ZPBP Synonymous SNV R175R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.317 269817 chr9 139405133 139405133 G A rs369645726 NOTCH1 Synonymous SNV C904C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.66 269818 chr2 95756259 95756259 G A MRPS5 Nonsynonymous SNV L235F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 269819 chr19 55858527 55858527 C T rs529593439 KMT5C Nonsynonymous SNV R367C 0.002 0 0 0 2 0 0 0 0 0 0 0 18.85 269820 chr19 55872396 55872396 C T rs1002944674 FAM71E2 Nonsynonymous SNV D244N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.21 269821 chr9 140007546 140007546 G C rs141137828 DPP7 Nonsynonymous SNV F243L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.127 269822 chr9 140173234 140173234 C T rs186114721 TOR4A Synonymous SNV R31R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.24 269823 chr9 140509971 140509971 C T rs945481306 ARRDC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.387 269824 chr9 140785357 140785357 T G rs4876916 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 1.191 269825 chr9 140785377 140785377 G A rs4876917 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 0.759 269826 chr9 140785395 140785395 G A rs12156547 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 2.97 269827 chr19 56422049 56422049 G A rs142963587 NLRP13 Nonsynonymous SNV T721M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 269828 chr3 10354351 10354351 C T rs144106790 SEC13 Synonymous SNV S62S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 269829 chr3 105086319 105086319 A C ALCAM Synonymous SNV R23R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.248 269830 chr9 15423127 15423127 G C rs754460862 SNAPC3 Nonsynonymous SNV A84P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 269831 chr7 39500197 39500197 G A rs761906616 POU6F2 Nonsynonymous SNV R514Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 269832 chr7 4955654 4955654 G A rs747597869 MMD2 Nonsynonymous SNV A116V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 269833 chr7 45123801 45123801 C T NACAD Nonsynonymous SNV V660M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.78 269834 chr3 119133880 119133880 C T rs201997376 ARHGAP31 Nonsynonymous SNV T1035I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.52 269835 chr9 36893504 36893504 G A rs188233723 MIR4476 0 0 0.003 0 0 0 0 1 0 0 0 0 5.531 269836 chr9 37735731 37735731 G A FRMPD1 Synonymous SNV K467K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 269837 chr7 93555445 93555445 C T GNG11 Nonsynonymous SNV R47C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 269838 chr20 1286030 1286030 G A rs567905357 SNPH Nonsynonymous SNV E273K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 269839 chr7 94049599 94049599 G A COL1A2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 269840 chr3 122003870 122003870 A G CASR Synonymous SNV L1023L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 269841 chr8 101146095 101146095 G C rs745516435 FBXO43 Nonsynonymous SNV P688A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.156 269842 chr8 101300101 101300101 A G RNF19A Nonsynonymous SNV M101T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.69 269843 chr7 99084544 99084544 C T ZNF789 Synonymous SNV A220A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 269844 chr7 5257633 5257633 G A rs772181590 WIPI2 Synonymous SNV T160T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.86 269845 chr20 3544007 3544007 A G rs137954802 ATRN Nonsynonymous SNV I479V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.213 269846 chr8 110631109 110631109 C T rs539680097 SYBU Nonsynonymous SNV R11Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 269847 chr9 95228676 95228676 C G rs146775001 ASPN Nonsynonymous SNV D188H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 269848 chr7 87035753 87035753 C T ABCB4 Nonsynonymous SNV G1066R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 269849 chr9 95481546 95481546 C T rs142503252 BICD2 Nonsynonymous SNV E461K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 269850 chr20 3684515 3684515 G A rs757586903 SIGLEC1 Synonymous SNV G310G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.523 269851 chr9 96425915 96425915 C T rs138464551 PHF2 Synonymous SNV L645L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.147 269852 chrM 7477 7477 C T MIR12136 0 0 0.007 0 0 0 0 2 0 0 1 0 269853 chr3 129293277 129293277 C T rs201339031 PLXND1 Nonsynonymous SNV E863K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 269854 chr3 130437377 130437377 G T rs762248039 PIK3R4 Synonymous SNV A661A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.5 269855 chrX 108708642 108708642 A G rs761391907 GUCY2F Nonsynonymous SNV I254T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 269856 chr3 132244526 132244526 G A rs145794875 DNAJC13 Nonsynonymous SNV V2045I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 269857 chr7 76026835 76026835 C T rs762617949 SSC4D Nonsynonymous SNV G290S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 269858 chr3 132424646 132424646 A C rs151118635 NPHP3 Nonsynonymous SNV S430A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.397 269859 chr7 99719923 99719923 C T rs139327006 CNPY4 Nonsynonymous SNV R54C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.9 269860 chrX 118724137 118724137 T C NKRF Synonymous SNV P417P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 269861 chr8 101152916 101152916 T C rs772840079 FBXO43 Synonymous SNV L522L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.858 269862 chrX 124455674 124455674 A G TEX13C Nonsynonymous SNV K569R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.003 269863 chr3 134226028 134226028 C G rs146294786 CEP63 Nonsynonymous SNV S41C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 269864 chr8 101733803 101733803 G A rs745924232 PABPC1 Synonymous SNV P3P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.943 269865 chr20 23858185 23858185 T C rs187995048 CST5 Nonsynonymous SNV N101S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 269866 chr20 23860207 23860207 G A rs773285104 CST5 Nonsynonymous SNV A36V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.169 269867 chr20 30451717 30451717 C A DUSP15 Nonsynonymous SNV V83L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 269868 chrX 138724628 138724628 G A rs144414622 MCF2 Nonsynonymous SNV A17V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.71 269869 chr3 137843364 137843364 T A A4GNT Nonsynonymous SNV L255F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 269870 chrX 140985318 140985318 C G rs148104474 MAGEC3 Nonsynonymous SNV L294V 0.003 0.003 0.007 0 3 1 0 2 1 0 0 0 1.559 269871 chr7 91726118 91726118 T C rs774842633 AKAP9 Nonsynonymous SNV M3282T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.981 269872 chr8 134237748 134237748 C T rs201767438 CCN4 Synonymous SNV N155N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 6.098 269873 chr8 134239854 134239854 A G rs34665171 CCN4 Synonymous SNV L90L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.816 269874 chrX 150885765 150885765 G A rs147067761 FATE1 Nonsynonymous SNV R43Q 0.004 0 0.003 0 5 0 0 1 2 0 0 0 8.523 269875 chr3 148459715 148459715 A G rs368951368 AGTR1 Nonsynonymous SNV N298S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 269876 chr7 99751114 99751114 T C rs200961392 LAMTOR4 Nonsynonymous SNV M32T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.678 269877 chr20 37267962 37267962 G T rs944457280 ARHGAP40 Nonsynonymous SNV R403S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 269878 chr20 39794446 39794446 C T rs145745335 PLCG1 Synonymous SNV G593G 0.003 0 0 0 3 0 0 0 0 0 0 0 19.23 269879 chr8 101075990 101075990 C T rs763021411 RGS22 Nonsynonymous SNV V155I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.002 269880 chr3 155208592 155208592 G A rs762437420 PLCH1 Synonymous SNV T779T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.22 269881 chr3 156009825 156009825 C A rs908792679 KCNAB1 Synonymous SNV V43V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 269882 chr8 124085670 124085670 G A rs768923640 TBC1D31 Nonsynonymous SNV V16I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.549 269883 chr8 124658139 124658139 C T rs376622136 KLHL38 Nonsynonymous SNV R529Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 269884 chrX 41333283 41333283 C T rs749658239 NYX Nonsynonymous SNV R193C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 269885 chr8 110401306 110401306 A G PKHD1L1 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 269886 chrX 54777749 54777749 G A ITIH6 Synonymous SNV R1139R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.298 269887 chr20 49218771 49218771 G A rs6096021 RIPOR3 Synonymous SNV N499N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.576 269888 chr3 183905513 183905513 G A rs755216413 ABCF3 Nonsynonymous SNV R131H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 269889 chr3 184045661 184045661 T A rs550525876 EIF4G1 Nonsynonymous SNV L1080H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 269890 chr8 24201079 24201079 G T ADAM28 Nonsynonymous SNV D658Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 269891 chr3 196457958 196457958 A G rs574821838 PIGX Nonsynonymous SNV K210E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.5 269892 chr8 23294572 23294572 A G rs150653551 ENTPD4 Nonsynonymous SNV Y409H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 269893 chr8 24211298 24211298 G A rs549973313 ADAM28 Nonsynonymous SNV A754T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.24 269894 chr3 32181723 32181723 A G rs72552293 GPD1L Nonsynonymous SNV I124V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.807 269895 chr8 2823355 2823355 G A rs758045126 CSMD1 Synonymous SNV S3074S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.645 269896 chr3 33195453 33195453 A G SUSD5 Nonsynonymous SNV M224T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.396 269897 chr10 124096122 124096122 C T rs73363991 BTBD16 Synonymous SNV D460D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 269898 chr8 28950310 28950310 G C rs754749975 KIF13B Synonymous SNV P1470P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.148 269899 chr8 29923657 29923657 - ATTGCTGCCAAACAAATATCCTAGTATTCCACCAGTTCCCAAGCCTGTCCAGAACCCTGG SARAF 0.001 0 0 0 1 0 0 0 0 0 0 0 269900 chr8 38994223 38994223 G A rs201047294 ADAM32 Synonymous SNV V69V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.986 269901 chr8 39564319 39564319 A C ADAM18 Nonsynonymous SNV N614T 0 0 0 1 0 0 0.003 0 0 0 0 0 24 269902 chr21 32595740 32595740 T C rs758826421 TIAM1 Synonymous SNV V659V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.825 269903 chr10 127520150 127520150 C T rs143179971 BCCIP Synonymous SNV I191I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 269904 chr8 37730515 37730515 A G rs73673899 RAB11FIP1 Nonsynonymous SNV I602T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.73 269905 chr10 128810499 128810499 C T rs370557016 DOCK1 Synonymous SNV L354L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 269906 chr8 37732066 37732066 G A rs115231204 RAB11FIP1 Nonsynonymous SNV P530L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.8 269907 chr8 37756795 37756795 G C rs78017237 RAB11FIP1 Synonymous SNV S55S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.59 269908 chr21 34922581 34922581 G A rs144680140 SON Synonymous SNV S348S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 269909 chr8 17612318 17612318 C A rs199816797 MTUS1 Nonsynonymous SNV M333I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 269910 chr8 38810875 38810875 G A PLEKHA2 Nonsynonymous SNV V255I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 269911 chr8 55533807 55533807 G A rs373078077 RP1 Nonsynonymous SNV R94H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.8 269912 chr10 133608304 133608304 C T rs576154865 LINC01164 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 269913 chr21 35897489 35897489 G A rs745961714 RCAN1 Nonsynonymous SNV S75F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.996 269914 chr3 40503526 40503526 - CTGCTGCTGCTGCTG RPL14 A159_K160insAAAAA 0.001 0.003 0 0 1 1 0 0 0 0 0 0 269915 chr21 38390506 38390506 G C RIPPLY3 X107S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 269916 chr8 623400 623400 - GGAGTCTGCACCCTCTTCCTCCCCAGCCCATGTCGGGTCTTCCTCGCTGGCGTCCGCACCGTCCTCCTCCCT ERICH1 S317_G318insREEDGADASEEDPTWAGEEEGADS 0 0.003 0 0 0 1 0 0 0 0 0 0 269917 chr8 67361121 67361121 A G rs771673334 ADHFE1 Nonsynonymous SNV K217R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.22 269918 chr8 68942824 68942824 C T rs148808450 PREX2 Synonymous SNV N212N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.91 269919 chr8 75929604 75929604 A G CRISPLD1 Nonsynonymous SNV D163G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 269920 chr19 14551114 14551114 C A PKN1 Synonymous SNV A4A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.48 269921 chr8 69243474 69243474 C T rs928483409 C8orf34 Nonsynonymous SNV P76L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 269922 chr3 45988170 45988170 C T rs184374371 CXCR6 Nonsynonymous SNV T66M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 269923 chr8 25261235 25261235 T G rs377562171 DOCK5 Synonymous SNV S1696S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.821 269924 chr10 27382677 27382677 G C rs926834454 ANKRD26 Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.879 269925 chr3 47284678 47284678 G A rs114859513 KIF9 Synonymous SNV Y524Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.475 269926 chr19 17038862 17038862 G A rs566481459 CPAMD8 Synonymous SNV H1109H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.764 269927 chr10 31810162 31810162 A G rs201912416 ZEB1 Synonymous SNV Q559Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 269928 chr3 48629608 48629608 C T rs377732069 COL7A1 Synonymous SNV T389T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.557 269929 chr10 43610128 43610128 C T rs193922700 RET Nonsynonymous SNV R440W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 269930 chr3 49690664 49690664 C T BSN Synonymous SNV G1225G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.111 269931 chr21 47671520 47671520 C T MCM3AP Nonsynonymous SNV G1405R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 269932 chr21 47704480 47704480 T C rs142205195 MCM3AP Nonsynonymous SNV I241V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 269933 chr9 109687142 109687142 G A rs146494827 ZNF462 Nonsynonymous SNV V317I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.3 269934 chr10 46999066 46999066 G A rs376362242 GPRIN2 Synonymous SNV P62P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.683 269935 chr7 134134478 134134478 C T rs5060 AKR1B1 Synonymous SNV T141T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 11.94 269936 chr19 17922907 17922907 C A B3GNT3 Stop gain C365X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 269937 chr9 100616345 100616345 A G FOXE1 Nonsynonymous SNV Q50R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 269938 chr22 18028691 18028691 A T rs375747559 CECR2 Synonymous SNV S1074S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.056 269939 chr9 115030359 115030359 T C PTBP3 Synonymous SNV E40E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.22 269940 chr19 19136234 19136234 C T rs576858379 SUGP2 Nonsynonymous SNV R308Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 269941 chr10 50960191 50960191 A G OGDHL Synonymous SNV I137I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.597 269942 chr3 55508590 55508590 C G WNT5A Synonymous SNV A138A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.42 269943 chr8 67049356 67049356 C A rs774548818 TRIM55 Synonymous SNV I178I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.77 269944 chr10 5808104 5808104 G C rs368972846 GDI2 Synonymous SNV S356S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.069 269945 chr3 62142878 62142878 G A rs181919998 PTPRG Nonsynonymous SNV V274I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 269946 chr9 119124970 119124970 G A rs775634573 PAPPA Nonsynonymous SNV E1483K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 269947 chr19 35613765 35613765 A T FXYD3 Nonsynonymous SNV E65V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.863 269948 chr22 30188424 30188424 T G rs151202545 ASCC2 Nonsynonymous SNV K496Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 269949 chr8 98289666 98289666 G A rs149847102 TSPYL5 Nonsynonymous SNV P136L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.54 269950 chr9 100326378 100326378 C T rs138235564 TMOD1 Synonymous SNV D182D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 269951 chr19 35842526 35842526 C T rs138336486 FFAR1 Synonymous SNV V24V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 269952 chr19 36046393 36046393 C T rs143513836 ATP4A Synonymous SNV A702A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.82 269953 chr9 123594207 123594207 T C PSMD5 Nonsynonymous SNV E112G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 269954 chr9 130674655 130674655 G A rs200265799 ST6GALNAC4 Nonsynonymous SNV T84M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.03 269955 chr9 104130536 104130536 T C rs748148700 BAAT Nonsynonymous SNV S179G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.19 269956 chr9 131107695 131107695 C T rs368927624 SLC27A4 Synonymous SNV G141G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.775 269957 chr9 13123175 13123175 C T rs764834512 MPDZ Nonsynonymous SNV V1611I 0 0 0 1 0 0 0.003 0 0 0 0 0 34 269958 chr10 89487143 89487143 G A rs147682410 PAPSS2 Nonsynonymous SNV R323Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 269959 chr10 91162616 91162616 - A rs763142417 IFIT1 Frameshift insertion N197Kfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 269960 chr10 91528634 91528634 T C KIF20B Nonsynonymous SNV L1744P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 269961 chr9 116798596 116798596 C T rs74541872 ZNF618 Synonymous SNV G362G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 269962 chr9 132400217 132400217 G A rs746489802 ASB6 Nonsynonymous SNV P344L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 269963 chr11 1017475 1017475 T G rs767120670 MUC6 Nonsynonymous SNV T1776P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 269964 chr22 46658914 46658914 C A PKDREJ Synonymous SNV L102L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 269965 chr11 102661515 102661515 T C rs201622381 MMP1 Nonsynonymous SNV M341V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 269966 chr9 129595441 129595441 G A ZBTB43 Nonsynonymous SNV G218D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.099 269967 chr11 103173832 103173832 G A rs113707199 DYNC2H1 Synonymous SNV E3702E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.319 269968 chr9 126139246 126139246 G A rs1006730110 CRB2 Nonsynonymous SNV E1255K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 269969 chr11 108348399 108348399 G C rs371531607 POGLUT3 Nonsynonymous SNV Q307E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 269970 chr22 51016294 51016294 G A rs199821148 CPT1B Synonymous SNV D17D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.358 269971 chr22 51160140 51160140 C T rs201793890 SHANK3 Synonymous SNV S1354S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.501 269972 chr9 131802838 131802838 G C rs367611771 MIGA2 Nonsynonymous SNV G53R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 269973 chr9 138649028 138649028 C T KCNT1 Synonymous SNV R161R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 10.91 269974 chr9 140952204 140952206 AGA - CACNA1B K1331del 0 0 0 1 0 0 0.003 0 0 0 0 0 269975 chrX 19390900 19390900 C G rs150181853 MAP3K15 Synonymous SNV S993S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.727 269976 chr11 116662352 116662352 G T rs34282181 APOA5 Nonsynonymous SNV D37E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.123 269977 chr11 117329543 117329543 G C DSCAML1 Synonymous SNV V1165V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.186 269978 chrX 49032221 49032221 G C rs148791498 PRICKLE3 Nonsynonymous SNV S482C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 269979 chrX 49032359 49032359 G C rs373121350 PRICKLE3 Nonsynonymous SNV P436R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 269980 chr9 134394788 134394788 G A rs117985576 POMT1 Nonsynonymous SNV R348K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.671 269981 chr9 33294917 33294917 A G NFX1 Synonymous SNV V175V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.207 269982 chr7 65426047 65426047 G A rs758984878 GUSB Nonsynonymous SNV P452L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.64 269983 chr9 34996746 34996746 C T rs749686454 DNAJB5 Synonymous SNV D304D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.94 269984 chr11 119228901 119228901 C T rs761647507 USP2 Synonymous SNV T190T 0 0.005 0.003 0 0 2 0 1 0 0 0 0 18.48 269985 chrX 63412852 63412852 G A rs190629808 AMER1 Synonymous SNV G105G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 269986 chr9 35616164 35616164 T A rs745594699 CD72 Nonsynonymous SNV E155V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.66 269987 chr9 35906608 35906608 - ACCCCT rs758849752 HRCT1 R108_H109insTP 0 0 0 1 0 0 0.003 0 0 0 0 0 269988 chr9 35906613 35906613 - CACCCC HRCT1 H110_P111insTP 0 0 0 1 0 0 0.003 0 0 0 0 0 269989 chr9 35906615 35906615 - ACCACCACCACCACCACCACCA HRCT1 Frameshift insertion P111Hfs*104 0 0 0 1 0 0 0.003 0 0 0 0 0 269990 chrX 70523134 70523134 C T ITGB1BP2 Synonymous SNV L114L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 269991 chrX 73961127 73961127 T A NEXMIF Nonsynonymous SNV M1089L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.809 269992 chrX 75649023 75649023 A T MAGEE1 Nonsynonymous SNV T234S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 269993 chr11 124755033 124755033 T G ROBO4 Nonsynonymous SNV T824P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 269994 chrX 103498933 103498933 T G rs145629484 ESX1 Synonymous SNV P136P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.136 269995 chrX 107396270 107396270 C G ATG4A Nonsynonymous SNV P298R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 269996 chrX 107976159 107976159 G A IRS4 Nonsynonymous SNV A1139V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 269997 chr9 34655660 34655660 C T rs571523950 IL11RA Synonymous SNV A53A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.78 269998 chrX 114425616 114425616 A T rs145295558 RBMXL3 Nonsynonymous SNV S538C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 269999 chrX 115304031 115304031 T C rs5190 AGTR2 Synonymous SNV L166L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.025 270000 chrX 115304544 115304544 T A rs17237799 AGTR2 Synonymous SNV I337I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.48 270001 chr9 77418709 77418709 C G TRPM6 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 270002 chrX 118221527 118221527 G T rs61729890 KIAA1210 Synonymous SNV P1222P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 270003 chrX 118222019 118222019 C T rs61741587 KIAA1210 Synonymous SNV S1058S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 270004 chrX 118222663 118222663 G C rs7063611 KIAA1210 Nonsynonymous SNV P844A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.171 270005 chrX 118223474 118223474 T C rs146451434 KIAA1210 Synonymous SNV S573S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 270006 chrX 118242332 118242332 C T rs34835592 KIAA1210 Nonsynonymous SNV A294T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 270007 chr9 72003350 72003350 C G rs200887680 FAM189A2 Nonsynonymous SNV A378G 0 0.003 0 0 0 1 0 0 0 0 0 0 33 270008 chrX 131520769 131520769 G A rs752090131 MBNL3 Nonsynonymous SNV P231L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 270009 chr11 130731919 130731919 G A rs547056271 LINC02551 0 0 0.003 0 0 0 0 1 0 0 0 0 3.039 270010 chrX 136649276 136649276 C T rs750150672 ZIC3 Synonymous SNV G142G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.814 270011 chr9 33466348 33466348 G A rs35135082 NOL6 Nonsynonymous SNV R723W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28.2 270012 chrX 103495266 103495266 - CCGGGTGGCACAGGCGCCATGCGTGAG ESX1 G288_P289insSRMAPVPPG 0 0 0 1 0 0 0.003 0 0 0 0 0 270013 chr9 91616909 91616909 T C rs145125543 S1PR3 Nonsynonymous SNV I265T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 270014 chr1 886528 886528 C T rs140822917 NOC2L Synonymous SNV P474P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.21 270015 chr9 98774922 98774922 A C rs147269000 ERCC6L2 Nonsynonymous SNV T1375P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.099 270016 chr4 66231741 66231741 T C rs753625855 EPHA5 Synonymous SNV P632P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.531 270017 chr9 35906575 35906575 - CACCACCTCCACCACCAC HRCT1 H105_P106insLHHHHH 0.001 0 0 1 1 0 0.003 0 0 0 0 0 270018 chr1 1226311 1226311 C T rs113608779 SCNN1D Nonsynonymous SNV P652S 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 0.006 270019 chr1 1247302 1247302 G A rs146699248 INTS11 Synonymous SNV D482D 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 Benign 0.039 270020 chr1 1262957 1262957 C T rs140494438 CPTP Synonymous SNV V153V 0.003 0.003 0.003 0 4 1 0 1 0 0 0 0 11.58 270021 chr1 1371137 1371137 C A VWA1 Synonymous SNV P3P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 270022 chr1 1374515 1374515 G A rs140102921 VWA1 Nonsynonymous SNV R229H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 270023 chrX 117526835 117526835 T G rs767361495 WDR44 Nonsynonymous SNV S118A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 270024 chr11 30938556 30938556 G T DCDC1 Nonsynonymous SNV H212N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.97 270025 chr9 79318820 79318820 T G rs140137838 PRUNE2 Nonsynonymous SNV E2570A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 270026 chr9 79322539 79322539 T C rs186649425 PRUNE2 Nonsynonymous SNV N1551D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 270027 chr11 40137065 40137065 G A rs765406670 LRRC4C Nonsynonymous SNV R260W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 270028 chr9 86617246 86617246 A C RMI1 Nonsynonymous SNV N449H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.437 270029 chr9 79259659 79259659 G A rs375613897 PRUNE2 Synonymous SNV H172H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.42 270030 chr11 43418344 43418344 T C TTC17 Nonsynonymous SNV M250T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.37 270031 chr11 43591398 43591398 G A rs549617105 MIR670HG 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 270032 chr9 80916929 80916929 C A PSAT1 Synonymous SNV R61R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 270033 chr1 10042688 10042688 G A rs150726175 NMNAT1 Nonsynonymous SNV E257K 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23.3 270034 chr1 10042751 10042751 A G NMNAT1 Nonsynonymous SNV K278E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 270035 chrX 37587688 37587688 G A rs781835775 XK Synonymous SNV L436L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 270036 chr1 10435075 10435075 T G KIF1B Nonsynonymous SNV Y1708D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 270037 chr11 46897179 46897179 C T rs140010759 LRP4 Synonymous SNV P1251P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.06 270038 chrX 49033406 49033406 G C rs782654239 PRICKLE3 Nonsynonymous SNV S299R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 270039 chrX 100510223 100510223 C T DRP2 Nonsynonymous SNV S666F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 270040 chr1 12336402 12336402 C T rs148459645 VPS13D Synonymous SNV P919P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 270041 chrX 101909496 101909496 G A rs747569317 GPRASP1 Nonsynonymous SNV V219I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 270042 chr4 98480255 98480255 T C rs139805225 STPG2 Nonsynonymous SNV K445R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.044 270043 chrX 46508190 46508190 A G SLC9A7 Nonsynonymous SNV S465P 0.002 0.003 0 0 2 1 0 0 1 0 0 0 24.5 270044 chr11 48387552 48387552 T C rs763717420 OR4C5 Nonsynonymous SNV T156A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 270045 chrX 111003227 111003227 A C rs201820102 ALG13 X897Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 17.07 270046 chrX 53279472 53279472 G A rs942858332 IQSEC2 Synonymous SNV N762N 0.002 0.003 0 1 2 1 0.003 0 1 0 0 0 3.611 270047 chrX 114426292 114426292 G A rs199838194 RBMXL3 Nonsynonymous SNV G763D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.21 270048 chrX 68382564 68382564 C T rs779128771 PJA1 Nonsynonymous SNV R118H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.138 270049 chr1 17420146 17420146 C T rs34847454 PADI2 Nonsynonymous SNV A149T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 270050 chr5 118485171 118485171 G T DMXL1 Nonsynonymous SNV V1217F 0 0.003 0 0 0 1 0 0 0 0 0 0 25 270051 chr10 114053769 114053769 C T rs112499664 TECTB Synonymous SNV T207T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 270052 chr10 114188139 114188139 C T rs75872284 ZDHHC6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.461 270053 chr10 115350366 115350366 C A rs11575797 NRAP Nonsynonymous SNV A1607S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 28.7 270054 chr1 2436149 2436149 G A rs746136924 PLCH2 Nonsynonymous SNV V1250M 0.002 0 0 0 2 0 0 0 0 0 0 0 3.798 270055 chr10 118215269 118215269 G A rs61729299 PNLIPRP3 Synonymous SNV L164L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.7 270056 chr10 12131230 12131230 G A rs377143488 DHTKD1 Synonymous SNV P321P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 270057 chr5 140047840 140047840 G A rs770977496 WDR55 Synonymous SNV E71E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.154 270058 chrX 99840026 99840026 A G TNMD Nonsynonymous SNV N4S 0.003 0 0 0 3 0 0 0 1 0 0 0 15.27 270059 chr5 140182427 140182427 G T rs782279925 PCDHA3 Nonsynonymous SNV V549L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 270060 chr1 26664905 26664905 G A rs78628066 CRYBG2 Synonymous SNV Y1136Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.809 270061 chr10 118425181 118425181 G A rs138140121 C10orf82 Nonsynonymous SNV S71F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.45 270062 chr10 123256220 123256220 T C FGFR2 Nonsynonymous SNV I451M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 270063 chr1 27874861 27874861 C A rs147020238 AHDC1 Nonsynonymous SNV A1256S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.672 270064 chr10 124186529 124186529 C T rs577177537 PLEKHA1 Synonymous SNV P294P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.747 270065 chr1 28862519 28862519 C T rs748559047 RCC1 Synonymous SNV L266L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 270066 chr1 15541622 15541622 G A rs145640227 TMEM51 Synonymous SNV A13A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 270067 chr1 31902337 31902337 C G rs782563144 SERINC2 Nonsynonymous SNV P326R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 270068 chrX 44008091 44008091 T C EFHC2 Nonsynonymous SNV I734V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 270069 chr1 16053669 16053669 A G PLEKHM2 Nonsynonymous SNV M368V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 270070 chr10 105330725 105330725 C T rs200414040 NEURL1 Nonsynonymous SNV T61M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.23 270071 chr10 13237155 13237155 G T rs138790069 MCM10 Synonymous SNV P620P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.423 270072 chr1 36644305 36644305 C G rs568600491 MAP7D1 Nonsynonymous SNV L599V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 270073 chr1 38032492 38032492 C G rs372299112 GNL2 Nonsynonymous SNV Q537H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 270074 chr10 129179611 129179611 T C rs780382083 DOCK1 Synonymous SNV L1262L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.256 270075 chr10 134671120 134671120 C T rs560273448 CFAP46 Nonsynonymous SNV V1850I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.718 270076 chr1 40034480 40034480 T C rs760100103 PABPC4 Synonymous SNV R290R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 270077 chr10 134712582 134712582 C T rs777460078 CFAP46 Nonsynonymous SNV A1034T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.2 270078 chr11 60620347 60620347 C T rs773952294 PTGDR2 Stop gain W283X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 270079 chr1 16043277 16043277 G A PLEKHM2 Synonymous SNV E81E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.75 270080 chr5 149421498 149421498 G C HMGXB3 Nonsynonymous SNV S733T 0 0.005 0 0 0 2 0 0 0 0 0 0 17.62 270081 chr1 44069789 44069789 G A rs548061948 PTPRF Nonsynonymous SNV R980H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 270082 chr11 61547695 61547695 G A rs201384645 MYRF Nonsynonymous SNV V780M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 270083 chr1 46501245 46501245 C T rs369652939 MAST2 Nonsynonymous SNV S1634L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 270084 chr11 62482979 62482979 T C rs200712527 HNRNPUL2 Nonsynonymous SNV N719S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.546 270085 chr1 52498556 52498556 A G KTI12 Nonsynonymous SNV V293A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 270086 chr11 64658399 64658399 G C rs7949144 MIR194-2HG 0 0 0.014 0 0 0 0 4 0 0 2 0 1.155 270087 chr11 65003963 65003963 G A rs376071901 SLC22A20P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 270088 chr1 55247066 55247066 C G rs531323074 TTC22 Synonymous SNV V520V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 270089 chr11 65304482 65304482 T A SCYL1 Synonymous SNV P614P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.841 270090 chr1 57383236 57383236 A T rs200106592 C8A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 270091 chr1 62914236 62914236 A T rs753428431 USP1 Nonsynonymous SNV E507D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 270092 chr10 16942635 16942635 G A rs141737312 CUBN Nonsynonymous SNV T2800I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.8 270093 chr1 67313350 67313350 T G rs747207053 WDR78 Nonsynonymous SNV S370R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 270094 chr10 49939577 49939577 C T rs979440074 WDFY4 Nonsynonymous SNV R518W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 270095 chr20 62577030 62577030 C T UCKL1 Nonsynonymous SNV A195T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 270096 chr1 75055505 75055505 G T ERICH3 Nonsynonymous SNV D662E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.038 270097 chr1 84383306 84383306 G A rs577416666 TTLL7 Nonsynonymous SNV T496I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 270098 chr11 7071046 7071046 A G rs191925618 NLRP14 Synonymous SNV P756P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.655 270099 chr1 85624630 85624630 C A rs752007436 SYDE2 Nonsynonymous SNV D1130Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.119 270100 chr1 38488476 38488476 C G UTP11 Nonsynonymous SNV L225V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 270101 chr11 71821156 71821156 G A rs531848254 ANAPC15 Nonsynonymous SNV P99L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 270102 chr11 72288611 72288611 C T rs578032249 PDE2A Synonymous SNV A874A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.16 270103 chr10 3151627 3151627 C T rs11542779 PFKP Synonymous SNV N132N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.07 270104 chr1 89573965 89573965 G A rs140265239 GBP2 Nonsynonymous SNV R557C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 270105 chr10 71902609 71902609 C T rs766635301 TYSND1 Nonsynonymous SNV G433D 0 0 0 1 0 0 0.003 0 0 0 0 0 31 270106 chr11 792715 792715 T C SLC25A22 Nonsynonymous SNV K142R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 270107 chr11 798096 798096 C G rs989528744 PANO1 Synonymous SNV P157P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.66 270108 chr10 73437363 73437363 C T rs397517310 CDH23 Synonymous SNV N555N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.76 270109 chr10 74660181 74660181 T C rs149115871 OIT3 Synonymous SNV D161D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.06 270110 chr5 61876047 61876057 ATTCAAGAATT - LRRC70 N261Kfs*5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 270111 chr5 6378578 6378578 G A MED10 Nonsynonymous SNV H7Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 270112 chr5 640691 640691 C T rs144699463 CEP72 Nonsynonymous SNV A504V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.62 270113 chr5 73136390 73136390 C T rs746584594 ARHGEF28 Nonsynonymous SNV P98L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 270114 chr10 62648570 62648570 C T rs372998480 RHOBTB1 Nonsynonymous SNV A166T 0.003 0 0 0 3 0 0 0 0 0 0 0 32 270115 chr12 103558489 103558489 G A rs753620041 LOC101929058 0 0 0.003 0 0 0 0 1 0 0 0 0 9.435 270116 chr12 104698293 104698293 A G rs367597572 EID3 Nonsynonymous SNV K194R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 270117 chr12 109294259 109294259 G A rs4262766 DAO Nonsynonymous SNV G331E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 270118 chr9 139915906 139915906 G A ABCA2 Nonsynonymous SNV R279C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 270119 chr12 111747864 111747864 C T rs529010039 CUX2 Synonymous SNV D364D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 270120 chr9 140196176 140196176 G A rs77930627 NRARP Synonymous SNV L69L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.34 270121 chr10 79397264 79397266 GAG - rs778547454 KCNMA1 S60del 0.003 0 0 1 3 0 0.003 0 0 0 0 0 270122 chr1 152382405 152382405 G A CRNN Stop gain Q385X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 270123 chr12 113132901 113132901 G A rs74647838 MIR1302-1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.505 270124 chr1 153661519 153661519 G A rs146936948 NPR1 Synonymous SNV Q836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 270125 chr10 90585833 90585833 G A ANKRD22 Synonymous SNV L121L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.918 270126 chr9 2170417 2170417 A G SMARCA2 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 270127 chr1 156280881 156280881 C T rs200835403 CCT3 Nonsynonymous SNV A383T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 270128 chr10 71851534 71851534 G A rs763894116 MACROH2A2 Nonsynonymous SNV A101T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 270129 chr12 122064661 122064661 C T rs549883296 ORAI1 Nonsynonymous SNV P5L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 270130 chr1 99164375 99164375 A G rs199645298 SNX7 Nonsynonymous SNV K263E 0.003 0 0 0 3 0 0 0 0 0 0 0 17.73 270131 chr12 124221773 124221773 C T rs367873118 ATP6V0A2 Synonymous SNV P331P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.68 270132 chr6 116879222 116879222 C T rs145628712 CALHM4 Nonsynonymous SNV R265C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.1 270133 chr12 130521393 130521393 T C LINC02418 0 0 0.003 0 0 0 0 1 0 0 0 0 1.347 270134 chr1 111746928 111746928 G A DENND2D Synonymous SNV R16R 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 270135 chr12 132474583 132474583 C A rs757751056 EP400 Nonsynonymous SNV S828R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 270136 chr12 133249753 133249753 G A rs5744777 POLE Synonymous SNV D490D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 1.663 270137 chr10 91162429 91162429 C T rs376965843 IFIT1 Nonsynonymous SNV R133C 0 0 0 3 0 0 0.008 0 0 0 0 0 13 270138 chr1 166818363 166818363 G C rs61744366 POGK Nonsynonymous SNV A65P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 270139 chr1 155178945 155178945 T C rs527512238 MTX1 Nonsynonymous SNV L117P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 270140 chr6 144780359 144780359 G A rs754645896 UTRN Nonsynonymous SNV R859H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 270141 chr11 102487609 102487609 G - rs767512115 MMP20 P103Lfs*20 0.002 0 0 0 2 0 0 0 0 0 0 0 270142 chr12 250351 250351 G A IQSEC3 Nonsynonymous SNV G382S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 270143 chr6 146267447 146267447 G C SHPRH Nonsynonymous SNV H415D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 270144 chr22 39530471 39530471 G A rs200999757 CBX7 Nonsynonymous SNV P178L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.19 270145 chr1 149903314 149903314 G A rs782128829 MTMR11 Synonymous SNV R304R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.27 270146 chr1 150116925 150116925 G A rs142968690 VPS45 Nonsynonymous SNV R519Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.9 270147 chr6 149285599 149285599 G T UST Nonsynonymous SNV R194L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 270148 chr11 101375155 101375155 C T rs770692012 TRPC6 Nonsynonymous SNV S182N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 270149 chr11 105623903 105623903 C T rs377235100 GRIA4 Synonymous SNV H148H 0.002 0 0 0 2 0 0 0 0 0 0 0 7.412 270150 chrX 118230525 118230525 C G KIAA1210 Nonsynonymous SNV D400H 0.003 0 0 0 3 0 0 0 1 0 0 0 25.9 270151 chr1 158152064 158152064 C T rs768667642 CD1D Nonsynonymous SNV L191F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 270152 chr6 152560763 152560763 T C rs376891338 SYNE1 Nonsynonymous SNV K6587E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 270153 chr22 43529447 43529447 G A rs201441121 MCAT Nonsynonymous SNV R259C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 270154 chr12 43821128 43821128 A T rs138035327 ADAMTS20 Nonsynonymous SNV Y1364N 0 0 0.007 2 0 0 0.005 2 0 0 0 0 23.7 270155 chr11 1103266 1103266 G A rs531537679 MUC2 Synonymous SNV S2672S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 270156 chr11 101762092 101762092 G A rs140148922 ANGPTL5 Nonsynonymous SNV T362M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 270157 chr11 113285166 113285166 G A rs80350280 DRD2 Synonymous SNV P247P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.11 270158 chrX 140993988 140993988 - CC MAGEC1 Frameshift insertion S267Pfs*7 0.002 0 0 0 2 0 0 0 1 0 0 0 270159 chrX 140993991 140993991 - CCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCA MAGEC1 Stop gain L268Pfs*21 0.002 0 0 0 2 0 0 0 1 0 0 0 270160 chrX 140994011 140994011 C G rs176043 MAGEC1 Nonsynonymous SNV P274R 0.003 0 0 0 4 0 0 0 1 0 0 0 0.647 270161 chrX 140994295 140994295 C G rs148009378 MAGEC1 Nonsynonymous SNV P369A 0.003 0 0 0 3 0 0 0 1 0 0 0 3.18 270162 chrX 142718372 142718372 T C rs781953956 SLITRK4 Nonsynonymous SNV I185V 0.003 0 0 0 3 0 0 0 1 0 0 0 23.4 270163 chr11 117860270 117860270 G A rs372372851 IL10RA Nonsynonymous SNV R101Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.4 270164 chr12 50355822 50355822 G A rs758120085 AQP5 Nonsynonymous SNV V8M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 270165 chr6 16306865 16306865 C T rs149993107 ATXN1 Nonsynonymous SNV G715S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 6.353 270166 chr11 119029332 119029332 G A ABCG4 Synonymous SNV L411L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.825 270167 chr11 119029554 119029554 C T rs754770221 ABCG4 Nonsynonymous SNV A451V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 270168 chr11 10516464 10516464 C T rs774908738 AMPD3 Nonsynonymous SNV R226C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 270169 chr1 200376913 200376913 G A ZNF281 Nonsynonymous SNV H641Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 270170 chr6 170038660 170038660 C T rs144128801 WDR27 Nonsynonymous SNV R424H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.97 270171 chr1 170129667 170129667 T C METTL11B Nonsynonymous SNV Y55H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 270172 chr11 121490502 121490502 A G rs140883895 SORL1 Nonsynonymous SNV Y1922C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.41 270173 chr1 201972590 201972590 G A rs758574536 RNPEP 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 270174 chrX 23019419 23019419 T C rs78316756 DDX53 Synonymous SNV R415R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.01 270175 chr12 53460380 53460380 C A rs531924180 SPRYD3 Nonsynonymous SNV R333L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 270176 chr1 202914128 202914128 G C rs748303000 ADIPOR1 Synonymous SNV V200V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.526 270177 chr12 53911308 53911308 C T rs77952509 LOC100652999 0 0 0.007 0 0 0 0 2 0 0 0 0 13.22 270178 chr11 114392964 114392964 A T rs146135669 NXPE1 Nonsynonymous SNV V315D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 270179 chr12 55820749 55820749 T A rs779539095 OR6C76 Nonsynonymous SNV C238S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 270180 chr12 56415317 56415317 G A rs79137765 IKZF4 Nonsynonymous SNV G14S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 270181 chr12 57430737 57430737 G A rs749645697 MYO1A Nonsynonymous SNV R732W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 270182 chr11 20124807 20124807 C T rs34329467 NAV2 Nonsynonymous SNV R1206C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 270183 chr1 192992978 192992978 G T rs200881380 UCHL5 Nonsynonymous SNV A243E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.55 270184 chr12 6442635 6442635 C T rs104895278 TNFRSF1A Nonsynonymous SNV V16M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 30 270185 chr1 220101234 220101234 T C rs201861047 SLC30A10 Synonymous SNV T183T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.541 270186 chr6 36713184 36713184 C T CPNE5 Nonsynonymous SNV V87M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 270187 chr10 111639980 111639980 G A XPNPEP1 Nonsynonymous SNV A269V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 270188 chr1 223177628 223177628 C T DISP1 Synonymous SNV S963S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.791 270189 chrX 103268037 103268037 G A rs200384987 H2BW1 Nonsynonymous SNV R66C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.73 270190 chr11 17388635 17388635 G T NCR3LG1 Synonymous SNV G167G 0.003 0 0 0 3 0 0 0 0 0 0 0 4.78 270191 chr11 17553067 17553067 C T rs145500807 USH1C Nonsynonymous SNV V43M 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 34 270192 chr11 18034522 18034522 G T SERGEF Synonymous SNV P12P 0.003 0 0 0 3 0 0 0 0 0 0 0 18.78 270193 chr1 203144819 203144819 G A MYBPH Nonsynonymous SNV A22V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 270194 chr1 182555688 182555688 G A rs766672907 RNASEL Nonsynonymous SNV P85L 0.003 0 0 0 3 0 0 0 0 0 0 0 23 270195 chr11 125365483 125365483 T C rs776585180 LOC403312 0 0 0 1 0 0 0.003 0 0 0 0 0 12.02 270196 chr6 43252872 43252872 G A TTBK1 Nonsynonymous SNV A1242T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 270197 chr1 228467881 228467881 G A rs200898281 OBSCN Synonymous SNV A2555A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.28 270198 chr1 186277738 186277740 ACC - rs575773149 PRG4 T831del 0.003 0 0.003 0 3 0 0 1 0 0 0 0 270199 chr10 124329693 124329693 C T rs147204202 DMBT1 Nonsynonymous SNV S36L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.35 270200 chr1 198498297 198498297 A G rs750027154 ATP6V1G3 Nonsynonymous SNV I48T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 270201 chr12 89743048 89743048 A T DUSP6 Nonsynonymous SNV S231T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.052 270202 chr10 124389414 124389414 A C rs76568846 DMBT1 Synonymous SNV P1152P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.786 270203 chr1 201009430 201009430 G A rs200434921 CACNA1S Nonsynonymous SNV P1767S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.832 270204 chr10 124708208 124708208 G T rs61730808 C10orf88 Nonsynonymous SNV P202H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 270205 chr10 124800130 124800130 G A rs140747102 ACADSB Nonsynonymous SNV R49K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 0.038 270206 chr1 233152890 233152890 T C PCNX2 Nonsynonymous SNV Y1539C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 270207 chr1 213189000 213189000 C G ANGEL2 Nonsynonymous SNV R5P 0.002 0 0 0 2 0 0 0 0 0 0 0 34 270208 chr1 235647824 235647824 A G rs149734145 B3GALNT2 Synonymous SNV N123N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.88 270209 chr1 241904913 241904913 T C WDR64 Nonsynonymous SNV Y473H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 270210 chr11 5068151 5068151 A G rs138998114 OR52J3 Synonymous SNV L132L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 270211 chr13 21148539 21148539 G T rs775463707 IFT88 Synonymous SNV V5V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 270212 chr13 23914303 23914303 T C rs376909986 SACS Nonsynonymous SNV K1091E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.365 270213 chr1 248756688 248756688 G A rs559437384 OR2T10 Nonsynonymous SNV H128Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.902 270214 chr7 100468235 100468235 G C rs148173409 TRIP6 Nonsynonymous SNV G290A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.9 270215 chr10 43292406 43292406 G A rs1024337594 BMS1 Nonsynonymous SNV A572T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 270216 chr13 37580084 37580084 G A rs200288552 EXOSC8 Nonsynonymous SNV C89Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28 270217 chr13 41706224 41706224 C G KBTBD6 Nonsynonymous SNV E142Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 270218 chr13 45725859 45725859 A G rs151182400 GTF2F2 Nonsynonymous SNV H66R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 270219 chr1 247835617 247835621 TGAGA - OR13G1 L242Sfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 270220 chr1 248097325 248097325 T C rs989003115 OR2AJ1 Synonymous SNV F86F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 270221 chr1 248402280 248402280 T C OR2M4 Nonsynonymous SNV I17T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 270222 chr1 230561570 230561570 C A PGBD5 Nonsynonymous SNV E35D 0.002 0 0 0 2 0 0 0 0 0 0 0 10.62 270223 chr10 54531346 54531346 G A rs76063875 MBL2 Nonsynonymous SNV A17V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.354 270224 chr2 27164854 27164854 G A rs41288787 DPYSL5 Nonsynonymous SNV V376I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 270225 chr13 79940860 79940860 G C rs780330319 RBM26 Nonsynonymous SNV P348R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 270226 chr1 235973390 235973390 G A LYST Nonsynonymous SNV A243V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 270227 chr11 5537069 5537069 C T rs199511572 UBQLNL Synonymous SNV T201T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.682 270228 chr14 102023797 102023797 G A rs767582377 DIO3OS 0 0 0.003 0 0 0 0 1 0 0 0 0 0.928 270229 chr2 32429672 32429672 G A rs769079285 SLC30A6 Nonsynonymous SNV V30I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 270230 chr7 106508268 106508268 T A rs147631551 PIK3CG Nonsynonymous SNV Y88N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 270231 chr11 57003486 57003486 G A rs771763352 APLNR Synonymous SNV C331C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 270232 chr11 4881211 4881211 C T rs147939169 OR51H1 Nonsynonymous SNV R195H 0 0 0 1 0 0 0.003 0 0 0 0 0 8.325 270233 chr11 4936069 4936069 G A rs144347987 OR51G2 Synonymous SNV H275H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 270234 chr14 104322614 104322614 C T rs45507893 LINC00637 0 0 0.003 0 0 0 0 1 0 0 0 0 7.546 270235 chr2 50724817 50724817 G A rs199784139 NRXN1 Nonsynonymous SNV H808Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 270236 chr14 105858076 105858076 C T rs372438559 PACS2 Nonsynonymous SNV S653L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 270237 chr11 56230050 56230050 G A OR5M9 Synonymous SNV Y276Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.146 270238 chr2 61391605 61391605 T G C2orf74 Synonymous SNV L97L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 270239 chr14 20767478 20767478 C T rs766825851 TTC5 Nonsynonymous SNV V176I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.127 270240 chr7 140482899 140482899 G A rs397516888 BRAF Synonymous SNV N412N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.35 270241 chr11 62299659 62299659 C A AHNAK Nonsynonymous SNV D744Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 270242 chr14 23587799 23587799 C T rs371549805 CEBPE Nonsynonymous SNV V168I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 270243 chr2 84928377 84928377 C T rs199554362 DNAH6 Nonsynonymous SNV R2659W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 34 270244 chr11 62933556 62933556 T C SLC22A25 Synonymous SNV L415L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 270245 chr2 20840933 20840933 T G rs139333579 HS1BP3 Nonsynonymous SNV K69T 0.003 0 0 0 4 0 0 0 0 0 0 0 25.7 270246 chr14 24610449 24610449 G A EMC9 Nonsynonymous SNV P22L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 270247 chr2 24433666 24433666 A G rs774913948 ITSN2 Nonsynonymous SNV C1374R 0.003 0 0 0 3 0 0 0 0 0 0 0 19.25 270248 chr2 96943436 96943436 C A rs1025705707 SNRNP200 Nonsynonymous SNV Q1924H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 270249 chr2 98994158 98994158 C T rs141086649 CNGA3 Nonsynonymous SNV S37L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.21 270250 chr2 99980757 99980757 A G rs749418641 EIF5B Synonymous SNV R387R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.689 270251 chr7 17861252 17861252 G C rs756613654 SNX13 Synonymous SNV G586G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.426 270252 chr11 64863733 64863733 C T rs766610118 VPS51 Nonsynonymous SNV A4V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.009 270253 chr14 57699395 57699395 G A EXOC5 Synonymous SNV L310L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 270254 chr14 58048114 58048114 G A rs182625331 SLC35F4 Synonymous SNV L208L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.548 270255 chr2 110065911 110065911 C T rs201688919 SH3RF3 Nonsynonymous SNV T705M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.269 270256 chr11 6550125 6550125 G A DNHD1 Synonymous SNV V707V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 5.846 270257 chr2 48848043 48848043 A G rs75526749 GTF2A1L, STON1-GTF2A1L Synonymous SNV L25L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.19 270258 chr11 66082436 66082436 A G CD248 Nonsynonymous SNV L688P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 270259 chr11 66082596 66082596 G C CD248 Nonsynonymous SNV P635A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.069 270260 chr11 67816677 67816677 C T rs556601417 TCIRG1 Synonymous SNV A385A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.85 270261 chr14 71197302 71197302 G A rs180995878 MAP3K9 Nonsynonymous SNV A770V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 270262 chr14 71479769 71479769 A G rs572171166 PCNX1 Nonsynonymous SNV D838G 0 0 0.003 0 0 0 0 1 0 0 0 0 25 270263 chr14 73716717 73716717 C - rs766861816 PAPLN Stop gain C120* 0 0 0.003 0 0 0 0 1 0 0 0 0 270264 chr14 73730411 73730411 C G rs139258651 PAPLN Nonsynonymous SNV R928G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 270265 chr11 71819066 71819066 C T LRTOMT Synonymous SNV A152A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.31 270266 chr14 77333710 77333710 C T LRRC74A Synonymous SNV V457V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 270267 chr14 77493644 77493644 - GCGGCGGCG IRF2BPL A164_V165insAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 270268 chr11 76869383 76869383 G A rs782124327 MYO7A Nonsynonymous SNV A304T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 270269 chr14 80327841 80327841 C T NRXN3 Nonsynonymous SNV S483L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 270270 chr2 152534213 152534213 C T rs764769462 NEB Nonsynonymous SNV E1214K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 270271 chr11 8016903 8016903 A C EIF3F Nonsynonymous SNV S329R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 270272 chr11 119508845 119508845 G A rs79178970 NECTIN1 Nonsynonymous SNV S447L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 270273 chr2 160194206 160194206 G C rs202012948 BAZ2B Nonsynonymous SNV C1808W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 270274 chr11 82644523 82644523 G A rs773428783 DDIAS Nonsynonymous SNV E715K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 270275 chr14 92349353 92349353 G A FBLN5 Synonymous SNV Y269Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.18 270276 chr2 161030599 161030599 T C rs141975569 ITGB6 Synonymous SNV P120P 0.003 0.003 0.007 1 4 1 0.003 2 0 0 0 0 Benign 5.132 270277 chr2 173825885 173825885 T C rs185601530 RAPGEF4 Synonymous SNV I38I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.571 270278 chr15 101436069 101436069 C T rs112981257 LOC101927751 0 0 0.003 0 0 0 0 1 0 0 0 0 6.95 270279 chr2 168812060 168812060 C T rs202000548 STK39 Synonymous SNV S528S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 270280 chr11 94277607 94277607 A G rs780146578 FUT4 Nonsynonymous SNV E103G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 270281 chr11 7686733 7686733 C G rs747913578 CYB5R2 Nonsynonymous SNV E235Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 270282 chr15 23812386 23812386 C G rs201786270 MKRN3 Nonsynonymous SNV P486R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.7 270283 chr15 25963388 25963388 G A rs772446746 ATP10A Nonsynonymous SNV R508W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 270284 chr2 113675343 113675343 C T rs200209919 IL37 Nonsynonymous SNV L72F 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 270285 chr12 101757467 101757467 C T UTP20 Synonymous SNV L1968L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.35 270286 chr11 126215441 126215441 C T rs137941190 DCPS Nonsynonymous SNV T323M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 31 270287 chr15 34080556 34080556 G T RYR3 Nonsynonymous SNV D3243Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 270288 chr15 41816169 41816169 C T RPAP1 Nonsynonymous SNV D746N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.822 270289 chr2 196659120 196659120 C T rs369926836 DNAH7 Nonsynonymous SNV R3553Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 270290 chr15 42134065 42134065 C T rs150295252 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV P180L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 270291 chr15 42149639 42149639 G C SPTBN5 Nonsynonymous SNV I2806M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 270292 chr12 111758270 111758270 C A rs201135503 CUX2 Synonymous SNV P757P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.53 270293 chr15 42986787 42986787 C T rs77836884 STARD9 Nonsynonymous SNV R4276W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.02 270294 chr15 43552360 43552360 G A rs113463533 TGM5 Nonsynonymous SNV T109M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.645 270295 chr8 103572696 103572696 A G rs140674338 ODF1 Nonsynonymous SNV N113D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.1 270296 chr12 103699759 103699759 T C rs773897801 C12orf42 Synonymous SNV K208K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 270297 chr15 45467541 45467541 G A rs78344302 SHF Synonymous SNV T241T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 270298 chr2 166731301 166731301 A T rs756943619 TTC21B Nonsynonymous SNV D1305E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 270299 chr2 166872165 166872165 C T rs146374754 SCN1A Nonsynonymous SNV V1168I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.86 270300 chr8 113563040 113563040 G C CSMD3 Nonsynonymous SNV P1345R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 270301 chr2 215617277 215617277 T C rs587781887 BARD1 Nonsynonymous SNV N54S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 270302 chr12 122369768 122369768 C T WDR66 Synonymous SNV F288F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.469 270303 chr2 216257809 216257809 G T rs759250934 FN1 Nonsynonymous SNV A1305E 0.001 0 0 0 1 0 0 0 0 0 0 0 24 270304 chr15 55974628 55974628 G A rs143548115 PRTG Nonsynonymous SNV R204C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 28.5 270305 chr8 124214575 124214575 G A rs1044250203 FAM83A-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.152 270306 chr2 219114608 219114608 G A rs188696608 ARPC2 Nonsynonymous SNV R281H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 270307 chr8 125103684 125103684 - A rs756419209 FER1L6 Frameshift insertion D1472Rfs*11 0.001 0.003 0 0 1 1 0 0 0 0 0 0 270308 chr2 219894919 219894919 G A rs770661621 CFAP65 Synonymous SNV P326P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.885 270309 chr15 64669069 64669069 C T rs150092906 PCLAF Nonsynonymous SNV V55M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 270310 chr12 12870803 12870803 C T rs990433180 CDKN1B Synonymous SNV S10S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 13.18 270311 chr12 12870809 12870809 C T rs778425357 CDKN1B Synonymous SNV S12S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 13.05 270312 chr12 12940146 12940146 A G rs146833333 APOLD1 Nonsynonymous SNV I134V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.33 270313 chr12 117157574 117157574 T C rs779249114 C12orf49 Synonymous SNV S73S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.91 270314 chr15 65943128 65943130 GAG - rs765607758 SLC24A1 E217del 0 0 0.003 0 0 0 0 1 0 0 0 0 270315 chr8 133854863 133854863 G C rs375578390 PHF20L1 Nonsynonymous SNV V805L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.68 270316 chr15 66191094 66191094 C T rs778628456 MEGF11 Synonymous SNV S982S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 270317 chr2 182756998 182756998 G A rs370480664 ITPRID2 Nonsynonymous SNV G69R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 270318 chr8 134232908 134232908 C T rs139669488 CCN4 Nonsynonymous SNV T145M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 24.3 270319 chr2 220439438 220439438 A G rs755704683 INHA Synonymous SNV S97S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 270320 chr12 133219838 133219838 C T rs142508245 POLE Nonsynonymous SNV R1508H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 270321 chr2 223917837 223917837 C T KCNE4 Stop gain Q148X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 270322 chr15 75044578 75044578 A G rs72547516 CYP1A2 Nonsynonymous SNV I386V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 270323 chr2 196750877 196750877 G A rs538578187 DNAH7 Synonymous SNV Y1842Y 0.002 0 0 0 2 0 0 0 0 0 0 0 4.466 270324 chr15 79277896 79277896 A T rs8026479 LOC100129540 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 270325 chr12 26493117 26493117 C T rs61757116 ITPR2 Nonsynonymous SNV A2668T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.7 270326 chr15 81585075 81585075 G A rs200203181 IL16 Synonymous SNV P533P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.197 270327 chr2 203621945 203621945 A G rs753616688 FAM117B Nonsynonymous SNV I372V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.07 270328 chr12 26275126 26275126 A G rs762099021 BHLHE41 Nonsynonymous SNV L441P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.83 270329 chr12 2967981 2967981 C T rs201630079 FOXM1 Synonymous SNV P690P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.951 270330 chr12 2939903 2939903 C A NRIP2 Stop gain E156X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 270331 chr2 237374203 237374203 C T rs201265396 IQCA1 Nonsynonymous SNV V291M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.7 270332 chr2 207176190 207176190 A T ZDBF2 Nonsynonymous SNV H2313L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.068 270333 chr2 207639083 207639083 C T rs200425724 FASTKD2 Synonymous SNV Y463Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.552 270334 chr8 145139351 145139351 G A rs180925747 GPAA1 Synonymous SNV P283P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.062 270335 chr12 16048408 16048408 A G rs766668044 STRAP Nonsynonymous SNV I206V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.12 270336 chr15 89867079 89867079 C T POLG Synonymous SNV L708L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 270337 chr8 146033153 146033153 C T rs770330495 ZNF517 Synonymous SNV T277T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.82 270338 chr2 242066466 242066466 G A rs773934506 PASK Stop gain R622X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 270339 chr2 241827765 241827765 G T MAB21L4 Nonsynonymous SNV P399T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 270340 chr2 242157734 242157734 C T rs755849036 ANO7 Synonymous SNV F753F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 270341 chr2 242617953 242617953 G A DTYMK Nonsynonymous SNV H105Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 270342 chr2 242438675 242438675 G - STK25 F194Lfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 270343 chr8 1853761 1853761 C G rs757799639 ARHGEF10 Nonsynonymous SNV L578V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 270344 chr2 220286196 220286196 C T rs774323736 DES Synonymous SNV R386R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.81 270345 chr3 8983198 8983198 T G rs149603888 RAD18 Nonsynonymous SNV K186T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 270346 chr16 12758832 12758832 C T rs376818351 CPPED1 Nonsynonymous SNV E144K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 270347 chr16 15781331 15781331 C T rs140251634 NDE1 Synonymous SNV L162L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.57 270348 chr16 20337708 20337708 G A rs540114066 GP2 Synonymous SNV L16L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 270349 chr16 2339618 2339618 G A rs149863262 ABCA3 Synonymous SNV V839V 0 0 0.007 0 0 0 0 2 0 0 0 0 11.26 270350 chr12 55688283 55688283 A G rs546932827 OR6C6 Nonsynonymous SNV V245A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 270351 chr16 29884863 29884863 G A rs140578955 SEZ6L2 Synonymous SNV C650C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.818 270352 chr16 30621355 30621355 G A ZNF689 Nonsynonymous SNV P3L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 270353 chr16 30982739 30982739 G T SETD1A Synonymous SNV L1019L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 270354 chr16 31486065 31486065 C T TGFB1I1 Nonsynonymous SNV P234L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 270355 chr12 57850065 57850065 A G rs763656862 INHBE Nonsynonymous SNV I163V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 270356 chr12 57398597 57398597 C A rs764565440 ZBTB39 Synonymous SNV V35V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 270357 chr2 242065756 242065756 C T rs56043607 PASK Synonymous SNV T858T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 13.02 270358 chr16 3639014 3639014 A C SLX4 Stop gain L1542X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 270359 chr16 4432430 4432430 G A rs201568220 VASN Nonsynonymous SNV A518T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 270360 chr12 64697534 64697534 T C rs899292908 C12orf56 Nonsynonymous SNV S172G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.776 270361 chr16 4751124 4751124 A G rs61747669 ANKS3 Synonymous SNV H204H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.11 270362 chr3 47958161 47958161 T C rs142423472 MAP4 Nonsynonymous SNV I386V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.272 270363 chr16 4846029 4846029 - GGAAGGTGAGCCCCT rs575157946 SMIM22 K70_E71insVSPWK 0 0 0.003 0 0 0 0 1 0 0 0 0 270364 chr16 4902939 4902939 C G rs144891449 UBN1 Synonymous SNV V7V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.707 270365 chr16 4920534 4920534 G A rs146683333 UBN1 Synonymous SNV E443E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 270366 chr16 4940192 4940192 T C PPL Nonsynonymous SNV N769S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.934 270367 chr16 50346854 50346854 G A rs751982589 ADCY7 Synonymous SNV P886P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 270368 chr16 50349306 50349306 G A rs148842632 ADCY7 Nonsynonymous SNV G1045R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 270369 chr16 5123201 5123201 A C rs113219939 ALG1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 270370 chr16 5127460 5127460 T G rs112668461 ALG1 Nonsynonymous SNV F74C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.94 270371 chr12 7045901 7045909 CAGCAGCAG - ATN1 Q500_Q502del 0.001 0 0 0 1 0 0 0 0 0 0 0 270372 chr3 48630046 48630046 G A rs121912830 COL7A1 Synonymous SNV Y311Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.635 270373 chr16 57819479 57819479 T C rs117391586 KIFC3 Nonsynonymous SNV Q13R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 270374 chr3 12942695 12942695 G A rs774057712 IQSEC1 Synonymous SNV H1044H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.99 270375 chr16 67980905 67980905 T C rs977313614 SLC12A4 Nonsynonymous SNV I728V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 270376 chr16 68191813 68191813 T G rs746760486 NFATC3 Nonsynonymous SNV F481L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 270377 chr16 69373311 69373311 A G rs770325229 COG8 Nonsynonymous SNV Y49H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 270378 chr3 73433112 73433112 T C rs61737733 PDZRN3 Nonsynonymous SNV K567E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 270379 chr3 77671458 77671458 T G ROBO2 Nonsynonymous SNV L1212W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 270380 chr3 66428184 66428184 G A SLC25A26 Nonsynonymous SNV D172N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 270381 chr3 36915712 36915712 A G rs115042205 TRANK1 Nonsynonymous SNV V284A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.991 270382 chr3 37034446 37034446 G C rs34566456 EPM2AIP1 Synonymous SNV V41V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.303 270383 chr13 103339307 103339307 A G rs141515467 METTL21C Nonsynonymous SNV I128T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.78 270384 chr12 99053062 99053062 A G rs146505676 APAF1 Synonymous SNV P206P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.647 270385 chr3 108076875 108076875 G A rs41267017 HHLA2 Stop gain W290X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 270386 chr13 103389072 103389072 G A rs11843669 CCDC168 Nonsynonymous SNV P4659S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 270387 chr13 103394581 103394581 T C rs11839681 CCDC168 Synonymous SNV A2822A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.032 270388 chr3 42261076 42261076 G A rs149186690 TRAK1 Nonsynonymous SNV R590Q 0.003 0 0 2 3 0 0.005 0 0 0 0 0 25 270389 chr3 111710278 111710280 GAA - rs769226229 ABHD10 E212del 0.001 0 0 0 1 0 0 0 0 0 0 0 270390 chr9 125390912 125390912 C T OR1B1 Synonymous SNV K301K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 270391 chr16 84127345 84127345 T C rs748855571 MBTPS1 Nonsynonymous SNV N236S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 270392 chr9 131019538 131019538 G C GOLGA2 Synonymous SNV A927A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.774 270393 chr13 114307724 114307724 G A rs763782100 ATP4B Synonymous SNV Y89Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.595 270394 chr3 121376174 121376174 C T HCLS1 Nonsynonymous SNV R37Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 270395 chr3 121409699 121409699 A T rs771625594 GOLGB1 Nonsynonymous SNV S2758T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 270396 chr11 66595798 66595798 A T C11orf80 Nonsynonymous SNV H379L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 270397 chr3 49394859 49394859 T C rs748280662 GPX1 Nonsynonymous SNV I146V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.66 270398 chr9 131862804 131862804 C T rs764044190 CRAT Nonsynonymous SNV D324N 0 0.003 0 0 0 1 0 0 0 0 0 0 35 270399 chr9 132084564 132084564 C T rs372659457 C9orf106 0 0.003 0 0 0 1 0 0 0 0 0 0 8.08 270400 chr13 25373607 25373607 G A rs919156853 RNF17 Nonsynonymous SNV E492K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 270401 chr9 133760235 133760235 C T ABL1 Nonsynonymous SNV P853L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 270402 chr13 25826044 25826044 G A rs146057731 MTMR6 Synonymous SNV S475S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.81 270403 chr13 30104725 30104725 C T rs902356922 SLC7A1 Synonymous SNV Q218Q 0.003 0 0 0 3 0 0 0 0 0 0 0 10.75 270404 chr17 10261080 10261080 G A rs187253561 MYH13 Nonsynonymous SNV T237I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 270405 chr17 12663721 12663721 G T rs28730827 LOC100128006 0 0 0.007 0 0 0 0 2 0 0 1 0 3.785 270406 chr13 41134091 41134091 G A rs760979256 FOXO1 Nonsynonymous SNV H513Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 270407 chr13 45149499 45149499 G T rs77747018 TSC22D1 Nonsynonymous SNV H238N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.13 270408 chr9 137805455 137805455 G A rs144127766 FCN1 Synonymous SNV D104D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.29 270409 chr13 42407540 42407540 C T rs776040339 VWA8 Nonsynonymous SNV R518Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 270410 chr13 42876996 42876996 G A rs114980445 AKAP11 Nonsynonymous SNV A1372T 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 270411 chr13 24858365 24858365 C G rs201006373 SPATA13 Nonsynonymous SNV P50A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 25.4 270412 chr13 49084884 49084884 T C rs147286833 RCBTB2 Synonymous SNV T245T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.404 270413 chr3 132071612 132071612 G C rs140885758 ACP3 Nonsynonymous SNV G272R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 270414 chr13 47351660 47351660 C G rs748728189 ESD Nonsynonymous SNV Q233H 0.003 0 0 0 3 0 0 0 0 0 0 0 27.1 270415 chr13 51915371 51915371 G A rs141460066 SERPINE3 Synonymous SNV T48T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.774 270416 chr9 139837243 139837243 G A rs142910179 FBXW5 Synonymous SNV G168G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.818 270417 chr11 78498090 78498090 C T rs370272010 TENM4 Nonsynonymous SNV V740I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 270418 chr3 141304899 141304899 A G RASA2 Synonymous SNV K595K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.534 270419 chr3 142142461 142142461 A G XRN1 Synonymous SNV H217H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.537 270420 chr13 37016345 37016345 G A rs768461226 CCNA1 Nonsynonymous SNV S416N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 270421 chr14 100813088 100813088 C T WARS1 Nonsynonymous SNV C233Y 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 270422 chr3 164714399 164714399 T C SI Nonsynonymous SNV Y1539C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 270423 chr17 30814868 30814868 A C rs150042369 CDK5R1 Nonsynonymous SNV N77T 0 0 0.007 0 0 0 0 2 0 0 1 0 7.916 270424 chr14 20404428 20404428 G A rs149331677 OR4K1 Synonymous SNV T201T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.003 270425 chr17 36093694 36093694 G T HNF1B Nonsynonymous SNV A222D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 270426 chr12 102158318 102158318 C T GNPTAB Nonsynonymous SNV V793M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 270427 chr9 5690014 5690014 A G rs931956772 RIC1 Nonsynonymous SNV Y103C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 270428 chr14 21161855 21161855 C T rs147701713 ANG Synonymous SNV G44G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.02 270429 chr3 189713201 189713201 C T P3H2 Nonsynonymous SNV A171T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 270430 chr12 108912521 108912521 C T rs151147125 FICD Nonsynonymous SNV R216C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 270431 chr14 105060643 105060643 C G rs61745821 TMEM179 Nonsynonymous SNV K204N 0 0 0.007 2 0 0 0.005 2 0 0 0 0 1.397 270432 chr14 23311133 23311133 G A rs778695115 MMP14 Nonsynonymous SNV R90H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 270433 chr14 105722712 105722712 C A rs754629781 BRF1 Nonsynonymous SNV W205L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 1.411 270434 chr14 23885255 23885255 G A rs151113658 MYH7 Synonymous SNV A1637A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 3.724 270435 chr14 23652072 23652072 C A rs144958980 SLC7A8 Nonsynonymous SNV G18W 0.003 0 0 0 3 0 0 0 0 0 0 0 33 270436 chr14 105939784 105939784 G A rs587629982 CRIP2 Nonsynonymous SNV S67N 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.877 270437 chr14 23826830 23826830 C T rs780224177 EFS Nonsynonymous SNV G338R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 270438 chr14 23863371 23863371 G A rs200153625 MYH6 Nonsynonymous SNV T864M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.39 270439 chr3 195517169 195517169 T C rs369143553 MUC4 Nonsynonymous SNV I428V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 270440 chr14 24517936 24517936 G C rs201609317 DHRS4L1 Nonsynonymous SNV K66N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.52 270441 chr14 23944951 23944951 T G rs111774192 NGDN Synonymous SNV L128L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.514 270442 chr14 24550558 24550558 G A NRL Synonymous SNV L201L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 270443 chr14 24652699 24652699 A T IPO4 Nonsynonymous SNV M695K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 270444 chr14 24702475 24702475 A C GMPR2 Nonsynonymous SNV N24H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 270445 chr17 39978568 39978579 AACCAGGACCGC - rs782622211 FKBP10 R556_D559del 0 0 0.003 0 0 0 0 1 0 0 0 0 270446 chr4 436469 436469 C T rs200042563 ZNF721 Nonsynonymous SNV R596Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.88 270447 chr17 40931068 40931068 G A rs781012987 VPS25 Nonsynonymous SNV R171Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 270448 chr17 41059584 41059584 G A rs751875988 G6PC Nonsynonymous SNV V129M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 270449 chr14 36143784 36143784 C T rs140413304 RALGAPA1 Nonsynonymous SNV D1539N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 270450 chr14 38220342 38220342 C T rs537654900 TTC6 Nonsynonymous SNV S1030F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.96 270451 chr12 122962441 122962441 T G ZCCHC8 Nonsynonymous SNV Q354P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 270452 chr14 50611950 50611950 C T rs373143128 SOS2 Nonsynonymous SNV V869I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 25.3 270453 chr17 45015997 45015997 C G rs34572603 GOSR2 Nonsynonymous SNV N105K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 270454 chrX 144904750 144904750 T C rs782030429 SLITRK2 Synonymous SNV S269S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 270455 chr14 54878388 54878388 C T rs141698864 CDKN3 Nonsynonymous SNV T87I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 11.06 270456 chrX 150842583 150842583 C T rs150597701 PASD1 Synonymous SNV L700L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.363 270457 chrX 151821207 151821207 C T rs78484935 GABRQ Synonymous SNV P454P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 270458 chr17 48247506 48247506 G A rs756590750 SGCA Synonymous SNV V250V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 270459 chr14 60030501 60030501 T C CCDC175 Nonsynonymous SNV Q266R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 270460 chrX 154774860 154774860 A G TMLHE Synonymous SNV L26L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.128 270461 chr4 10027569 10027569 G A rs746329719 SLC2A9 Stop gain R8X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.905 270462 chr3 194147807 194147807 G A rs201484522 ATP13A3 Nonsynonymous SNV S1041L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 270463 chr3 195497135 195497135 C T rs145520860 MUC4 Synonymous SNV K163K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.47 270464 chr14 72165778 72165778 A G SIPA1L1 Nonsynonymous SNV N1152S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.86 270465 chr4 31144187 31144187 C T rs200731135 PCDH7 Nonsynonymous SNV R1162C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 270466 chrX 47308492 47308492 T A rs368078047 ZNF41 Nonsynonymous SNV H140L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.79 270467 chr17 60088127 60088127 T C rs187078012 MED13 Nonsynonymous SNV Q584R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 270468 chr4 38696379 38696379 G A rs138417483 KLF3 Synonymous SNV S236S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 270469 chr4 40339293 40339293 A G CHRNA9 Nonsynonymous SNV T93A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 270470 chr17 63189704 63189704 A G rs886577461 RGS9 Nonsynonymous SNV M261V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 270471 chr17 64876761 64876761 G A rs145214481 CACNG5 Nonsynonymous SNV R124H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.2 270472 chr4 47655676 47655676 T C CORIN Synonymous SNV E475E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 270473 chr4 54327623 54327623 G A rs757870438 LNX1 Nonsynonymous SNV A581V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 270474 chr4 2083413 2083413 T C POLN Nonsynonymous SNV D752G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 270475 chr17 6733544 6733544 G A rs141292245 TEKT1 Nonsynonymous SNV T51I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 270476 chr17 7011869 7011869 C T rs759079743 ASGR2 Synonymous SNV Q69Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.803 270477 chr14 94708257 94708257 A G rs147861119 PPP4R4 Nonsynonymous SNV Y289C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.5 270478 chr10 103868876 103868876 G A rs143537282 LDB1 Synonymous SNV S305S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 270479 chr14 96800027 96800027 C T rs183527316 ATG2B Nonsynonymous SNV R402H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 28.4 270480 chr15 28359871 28359871 G A HERC2 Synonymous SNV S4600S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.75 270481 chr17 7405314 7405314 C T rs756643409 POLR2A Synonymous SNV Y815Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 270482 chr17 74078063 74078063 C T rs564705824 ZACN Synonymous SNV S327S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.871 270483 chr15 30053428 30053428 G A rs760299748 TJP1 Synonymous SNV P308P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.01 270484 chr15 31197477 31197477 A G FAN1 Nonsynonymous SNV Q204R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.165 270485 chr15 33096525 33096525 C G FMN1 Nonsynonymous SNV E1090Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25 270486 chr17 76137001 76137001 C T rs748982537 TMC8 Synonymous SNV Y663Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.564 270487 chr15 40855047 40855047 C T rs749868454 CCDC32 Synonymous SNV V65V 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 1.841 270488 chr10 123848092 123848092 G A rs373310579 TACC2 Synonymous SNV A1853A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.682 270489 chr17 7662221 7662221 G A rs759203217 DNAH2 Nonsynonymous SNV E743K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.39 270490 chr17 76800039 76800039 T C rs374758208 USP36 Synonymous SNV Q746Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 270491 chr15 40675127 40675127 T G rs376758590 KNSTRN Nonsynonymous SNV Y31D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.98 270492 chr4 110670750 110670750 G A rs121964917 CFI Nonsynonymous SNV R310W 0.001 0 0 0 1 0 0 0 0 0 0 0 risk factor 16.27 270493 chr15 40913735 40913735 T A KNL1 Nonsynonymous SNV C425S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 270494 chr15 41809875 41809875 G A rs143274471 RPAP1 Synonymous SNV H1349H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.866 270495 chr15 41862520 41862520 G A rs146237670 TYRO3 Nonsynonymous SNV E444K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 270496 chr15 41865665 41865665 - TGGGCGTTCGGGGTGACCAT rs769980669 TYRO3 Frameshift insertion M677Ifs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 270497 chr15 41991300 41991300 A T rs199867526 MGA Nonsynonymous SNV I711L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 9.036 270498 chr15 42138422 42138422 T G rs138803580 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV L541R 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 24.5 270499 chr15 42154377 42154377 C A rs200919786 SPTBN5 Nonsynonymous SNV R2500L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.86 270500 chr15 42159248 42159248 C T rs577117420 SPTBN5 Nonsynonymous SNV R2130H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.059 270501 chr12 55968660 55968660 T G rs950518992 OR2AP1 Nonsynonymous SNV I154M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 270502 chr15 42174812 42174812 G T rs751714063 SPTBN5 Nonsynonymous SNV Q673K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.731 270503 chr15 42175627 42175627 C T rs374945802 SPTBN5 Synonymous SNV R526R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.82 270504 chr15 42178048 42178048 G A rs367662131 SPTBN5 Synonymous SNV L469L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 6.492 270505 chr17 79278740 79278740 C T rs560079601 LINC00482 0 0 0.003 0 0 0 0 1 0 0 0 0 7.43 270506 chr4 128807143 128807143 C T rs199907384 PLK4 Synonymous SNV I174I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 270507 chr15 35168195 35168195 A G rs199672982 AQR Synonymous SNV L1060L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.745 270508 chr15 44811376 44811376 T A rs148371499 CTDSPL2 Synonymous SNV L374L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.443 270509 chr4 147861012 147861012 C T rs199903002 TTC29 Synonymous SNV P12P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 270510 chr17 80043430 80043430 C A FASN Synonymous SNV G1350G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.331 270511 chr10 14950485 14950485 T C rs61749163 DCLRE1C Synonymous SNV L552L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.133 270512 chr4 75937741 75937741 T C rs199499699 PARM1 Synonymous SNV D50D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 270513 chr4 76890474 76890474 A G SDAD1 Nonsynonymous SNV I284T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 25.7 270514 chr15 40861840 40861840 C T rs763974972 RPUSD2 Nonsynonymous SNV R102W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 270515 chr15 51780196 51780196 C T rs149896393 DMXL2 Synonymous SNV S1088S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 270516 chr15 56387062 56387067 GTGGGT - rs551989191 RFX7 P867_T868del 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 270517 chr17 8224299 8224299 C T ARHGEF15 Synonymous SNV A838A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 270518 chr12 68052166 68052166 C T rs56178357 DYRK2 Synonymous SNV S420S 0.003 0 0.003 0 4 0 0 1 0 0 0 0 6.746 270519 chr15 51795107 51795107 T C DMXL2 Nonsynonymous SNV N963S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 270520 chr10 25313652 25313652 C T THNSL1 Synonymous SNV S500S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.29 270521 chr10 27687253 27687253 G A rs774638340 PTCHD3 Synonymous SNV S758S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 270522 chr18 21110445 21110445 A G rs765688018 RMC1 Nonsynonymous SNV H431R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 270523 chr10 28436486 28436486 C T rs142463330 MPP7 Nonsynonymous SNV E81K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 270524 chr15 60649393 60649393 A G rs764686035 ANXA2 Nonsynonymous SNV S152P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 270525 chr15 66793654 66793654 C T rs374538654 SNORD18C 0.003 0 0 0 3 0 0 0 0 0 0 0 9.351 270526 chr4 177041196 177041196 G A rs201211139 WDR17 Synonymous SNV K162K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.338 270527 chr15 64592537 64592537 G A rs766075280 CSNK1G1 Synonymous SNV N54N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.933 270528 chr18 29171879 29171879 G A rs138657343 TTR Nonsynonymous SNV R5H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.503 270529 chr4 184931749 184931749 C T rs748013023 STOX2 Synonymous SNV G586G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.606 270530 chr4 185578392 185578392 C T rs772705885 PRIMPOL Nonsynonymous SNV S33F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 270531 chr4 106588439 106588439 A G ARHGEF38 Nonsynonymous SNV K615E 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 270532 chr15 75340956 75340956 C T rs140210637 PPCDC Synonymous SNV T66T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.85 270533 chr18 44702598 44702598 G A IER3IP1 Synonymous SNV N17N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 270534 chr4 110737343 110737343 G C rs150273267 GAR1 Nonsynonymous SNV R8P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 23.4 270535 chr18 47810753 47810753 T A rs766561140 CXXC1 Synonymous SNV A404A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.194 270536 chr18 50918077 50918077 G C rs144961254 DCC Synonymous SNV S836S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.573 270537 chr15 79187166 79187166 A C rs140693943 MORF4L1 Synonymous SNV R181R 0.003 0 0 0 3 0 0 0 0 0 0 0 5.002 270538 chr18 54305665 54305665 C T rs747052679 TXNL1 Nonsynonymous SNV G3R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 270539 chr15 80181564 80181564 G A rs772103355 MTHFS, ST20-MTHFS Nonsynonymous SNV R27W 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 270540 chr15 84280284 84280284 C T rs957899617 SH3GL3 Nonsynonymous SNV P318L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.756 270541 chr15 76146727 76146727 G A rs750889339 UBE2Q2 Nonsynonymous SNV E45K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 270542 chr15 77348563 77348563 T C TSPAN3 Nonsynonymous SNV Y33C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 270543 chr15 78486970 78486970 C T ACSBG1 Nonsynonymous SNV E111K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.74 270544 chr10 50966510 50966510 G A rs145183489 OGDHL Synonymous SNV S43S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.03 270545 chr4 129857917 129857917 A T SCLT1 Synonymous SNV I574I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 270546 chr15 78789534 78789534 A G rs140959198 IREB2 Nonsynonymous SNV I638V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 270547 chr15 85402596 85402596 C T rs147819987 ALPK3 Nonsynonymous SNV R1314C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 270548 chr15 78917606 78917606 T C rs369827878 CHRNB4 Nonsynonymous SNV M456V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 270549 chr5 19473754 19473754 G A rs773695784 CDH18 Nonsynonymous SNV R652W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 270550 chr5 31305312 31305312 C G CDH6 Nonsynonymous SNV T344S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 270551 chr13 114058273 114058273 C T rs918824847 LOC101928841 Nonsynonymous SNV R1411Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.829 270552 chr18 77933813 77933813 T C rs190511034 PARD6G-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.77 270553 chr10 72294579 72294579 C T rs780832853 PALD1 Stop gain R403X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 270554 chr15 89398150 89398150 T A ACAN Synonymous SNV T778T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.52 270555 chr15 89403561 89403561 C T rs376745222 ACAN Synonymous SNV P2279P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 270556 chr5 50687249 50687249 A C rs758563961 ISL1 Nonsynonymous SNV I303L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 270557 chr15 89876830 89876830 - TGC POLG Q55_P56insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 270558 chr19 1046944 1046944 C G rs144979723 ABCA7 Nonsynonymous SNV A589G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 270559 chr19 10489079 10489079 G A rs1004722306 TYK2 Nonsynonymous SNV P2S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 270560 chr15 90627573 90627573 G A rs191547948 IDH2 Synonymous SNV N298N 0 0 0 2 0 0 0.005 0 0 0 0 0 8.698 270561 chr16 11272395 11272395 G A rs201524313 CLEC16A Nonsynonymous SNV V1004I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 270562 chr19 11019847 11019847 C T rs761447885 CARM1 Synonymous SNV R174R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.96 270563 chr5 68660804 68660806 TCA - rs757689254 TAF9 D260del 0.001 0 0 0 1 0 0 0 0 0 0 0 270564 chr19 12924229 12924229 T C RNASEH2A Synonymous SNV S283S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 270565 chr5 71616016 71616016 G A rs143761339 MRPS27 Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.919 270566 chr19 14593642 14593642 G T rs377490203 GIPC1 Synonymous SNV P49P 0 0 0.007 0 0 0 0 2 0 0 0 0 5.896 270567 chr16 113770 113770 T C RHBDF1 Nonsynonymous SNV K93E 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 270568 chr16 1250388 1250388 C T rs780299000 CACNA1H Synonymous SNV R312R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.557 270569 chr16 1260123 1260123 C A CACNA1H Nonsynonymous SNV S1278Y 0.002 0 0 2 2 0 0.005 0 0 0 0 0 25.5 270570 chr19 15558976 15558976 C T rs751162738 WIZ Nonsynonymous SNV R48H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.107 270571 chr16 1557367 1557367 G A rs116500468 TELO2 Nonsynonymous SNV D763N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 26.8 270572 chr5 78376542 78376542 C T rs768662220 BHMT2 Synonymous SNV L97L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 270573 chr19 1584566 1584566 C G MBD3 Synonymous SNV P127P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 270574 chr5 79617051 79617051 G - rs111595904 SPZ1 E340Nfs*17 0.001 0 0.007 0 1 0 0 2 0 0 0 0 270575 chr5 81613897 81613897 C T rs146594152 ATP6AP1L Synonymous SNV I151I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.811 270576 chr16 23497432 23497432 C T rs139803845 GGA2 Synonymous SNV A234A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 270577 chr16 23711995 23711995 C T rs199789139 ERN2 Nonsynonymous SNV E412K 0.003 0 0 0 3 0 0 0 0 0 0 0 2.792 270578 chr16 2024780 2024780 C T rs147407993 TBL3 Synonymous SNV A132A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 270579 chr19 17337829 17337829 C G rs375426920 OCEL1 Synonymous SNV L91L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.397 270580 chr19 17343413 17343413 C T rs763808006 NR2F6 Synonymous SNV P321P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 270581 chr16 2809623 2809625 CTG - rs144900093 SRRM2 A266del 0.002 0 0 0 2 0 0 0 0 0 0 0 270582 chr5 94134804 94134804 A G MCTP1 Nonsynonymous SNV Y603H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 270583 chr5 94224591 94224591 G A rs17084201 MCTP1 Synonymous SNV D375D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.239 270584 chr16 2819051 2819051 C T rs111694508 SRRM2 Nonsynonymous SNV P2596L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.15 270585 chr16 1995905 1995905 C T rs749689296 RPL3L Synonymous SNV V326V 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 6.22 270586 chr19 1795937 1795937 C T rs529257997 ATP8B3 Synonymous SNV T617T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 270587 chr16 21974135 21974135 G A rs781307417 UQCRC2 Nonsynonymous SNV R148H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.42 270588 chr19 1827093 1827093 C A rs748493644 REXO1 Synonymous SNV G565G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 270589 chr5 111545675 111545675 T C EPB41L4A Synonymous SNV S364S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.817 270590 chr16 23504718 23504718 C T rs754373988 GGA2 Nonsynonymous SNV R105H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 270591 chr16 3273964 3273964 T C rs150911467 ZNF200 Synonymous SNV R371R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.081 270592 chr16 3282422 3282422 C A rs61731424 ZNF200 Synonymous SNV L155L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.753 270593 chr19 1952812 1952812 A G rs117450701 CSNK1G2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.288 270594 chr16 3358809 3358809 G C rs554842861 ZNF75A Nonsynonymous SNV Q127H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.756 270595 chr5 125944131 125944131 G C rs61747690 PHAX Synonymous SNV L262L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 12.13 270596 chr16 3406511 3406511 G T rs138530420 OR2C1 Nonsynonymous SNV D191Y 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 23.7 270597 chr5 135216468 135216468 G A rs978953115 SLC25A48 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.36 270598 chr19 2253730 2253730 G A rs771749091 JSRP1 Nonsynonymous SNV P109S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.8 270599 chr19 2254443 2254443 C T rs200404120 JSRP1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 270600 chr5 68715612 68715612 A G rs746957826 MARVELD2 Nonsynonymous SNV K134E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.027 270601 chr19 30165556 30165556 G A rs373551601 PLEKHF1 Synonymous SNV S270S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.333 270602 chr16 31503523 31503523 C T rs746673665 C16orf58 Nonsynonymous SNV R409Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.679 270603 chr16 3190826 3190826 G A rs764726274 ZNF213 Synonymous SNV P286P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.267 270604 chr16 50707796 50707796 G A rs776272427 SNX20 Nonsynonymous SNV R158W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 270605 chr5 139740455 139740455 G A rs199701992 SLC4A9 Nonsynonymous SNV V97M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 270606 chr19 34868680 34868680 C T rs536687783 GPI Nonsynonymous SNV S148L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 270607 chr16 57416320 57416320 C T rs192202449 CX3CL1 Synonymous SNV P105P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.52 270608 chr11 118764382 118764382 G T rs2230319 CXCR5 Synonymous SNV G43G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.152 270609 chr11 118770054 118770054 G A rs12277303 BCL9L Synonymous SNV N1190N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.434 270610 chr11 118773204 118773204 G A rs7119065 BCL9L Synonymous SNV D416D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.908 270611 chr11 118827655 118827655 G T rs3886020 UPK2 Nonsynonymous SNV A47S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 270612 chr11 118827670 118827670 C A rs150164163 UPK2 Nonsynonymous SNV H52N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 270613 chr16 50746052 50746052 C T rs140876663 NOD2 Nonsynonymous SNV R717W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.8 270614 chr5 148977379 148977379 C T rs750669050 ARHGEF37 Nonsynonymous SNV P16L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.19 270615 chr16 57100493 57100493 G A rs141673616 NLRC5 Nonsynonymous SNV R1401H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.29 270616 chr19 38056523 38056523 A C rs377270640 ZNF571 Nonsynonymous SNV H269Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 270617 chr14 53525284 53525284 G A DDHD1 Nonsynonymous SNV R635C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 270618 chr16 65016018 65016018 C T CDH11 Nonsynonymous SNV A270T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 270619 chr19 39957182 39957182 C T rs377555614 SUPT5H Synonymous SNV Y309Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 270620 chr5 154193504 154193504 G A rs372005840 LARP1 Nonsynonymous SNV G775S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 270621 chr16 57470621 57470621 C T rs377204698 CIAPIN1 Nonsynonymous SNV A99T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 270622 chr16 77353781 77353781 C T rs375093710 ADAMTS18 Nonsynonymous SNV A661T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 270623 chr16 7760737 7760737 C T RBFOX1 Nonsynonymous SNV A416V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 270624 chr11 129739391 129739391 C A NFRKB Nonsynonymous SNV A1202S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 270625 chr5 134871358 134871358 C A NEUROG1 Nonsynonymous SNV C8F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 270626 chr11 14490240 14490240 G T COPB1 Nonsynonymous SNV S711Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 270627 chr16 83999537 83999537 C T rs117872227 OSGIN1 Synonymous SNV F453F 0.003 0 0.003 0 4 0 0 1 0 0 0 0 12.9 270628 chr16 67979677 67979677 C T rs765630619 SLC12A4 Nonsynonymous SNV R948Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 270629 chr5 176304610 176304610 G A rs771421798 UNC5A Nonsynonymous SNV R514Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 270630 chr5 140263467 140263467 C T rs200536915 PCDHA13 Synonymous SNV R538R 0.003 0 0 0 4 0 0 0 0 0 0 0 11.49 270631 chr19 44500557 44500557 A G ZNF155 Nonsynonymous SNV K183R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 270632 chr16 84922913 84922913 C T rs770937388 CRISPLD2 Synonymous SNV P461P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 270633 chr5 180166444 180166444 G A rs752095483 OR2Y1 Synonymous SNV V205V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.689 270634 chr11 249023 249023 G A rs184893349 PSMD13 Nonsynonymous SNV R249Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 270635 chr16 8862762 8862762 C T rs201397255 ABAT Nonsynonymous SNV R250W 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25.9 270636 chr6 10928674 10928674 G A rs376863466 SYCP2L Synonymous SNV P493P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.166 270637 chr16 84031825 84031825 C T rs368505537 NECAB2 Nonsynonymous SNV R271W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 270638 chr5 153035427 153035427 A C GRIA1 Nonsynonymous SNV N152H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.3 270639 chr19 49173671 49173671 C T rs78031286 NTN5 Synonymous SNV P191P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 270640 chr19 49217183 49217183 G A rs145040442 MAMSTR Synonymous SNV S113S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 7.885 270641 chr17 10552932 10552932 - AACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGG MYH3 Stop gain T202_E1940delinsPGPRRRPRPRHQP 0.003 0 0 0 3 0 0 0 0 0 0 0 270642 chr19 49217732 49217732 C T rs200099449 MAMSTR Nonsynonymous SNV G102D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 25.9 270643 chr16 89986197 89986197 G A rs145781072 MC1R Synonymous SNV T177T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.313 270644 chr19 49224205 49224205 C A rs139276826 RASIP1 Synonymous SNV L914L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 19.54 270645 chr16 90086509 90086509 C T rs569860944 DBNDD1 Synonymous SNV R6R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.75 270646 chr15 28211841 28211841 A G rs34141095 OCA2 Nonsynonymous SNV I520T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 270647 chr16 86602433 86602433 T C rs61753346 FOXC2 Nonsynonymous SNV C498R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 270648 chr19 49852062 49852062 A T TEAD2 Synonymous SNV P214P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.015 270649 chr6 26107823 26107823 C A rs147889373 H1-6 Nonsynonymous SNV G167W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 270650 chr17 17919886 17919886 G C DRC3 Nonsynonymous SNV E491D 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 270651 chr19 51649169 51649169 G A rs750564704 SIGLEC7 Nonsynonymous SNV R180H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 270652 chr11 46726785 46726785 G A rs375760341 ZNF408 Nonsynonymous SNV R504H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 270653 chr17 18059584 18059584 C T rs752218682 MYO15A Synonymous SNV I2845I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.27 270654 chr19 53762651 53762651 C T rs151062632 VN1R2 Synonymous SNV F341F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 270655 chr15 45455813 45455813 C T rs150734159 DUOX1 Synonymous SNV H1444H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.83 270656 chr15 51742482 51742482 T A rs1033834231 DMXL2 Synonymous SNV L2279L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 270657 chr6 47252035 47252035 G A rs781226199 TNFRSF21 Synonymous SNV N294N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.893 270658 chr6 24836003 24836003 T C rs369920010 RIPOR2 Synonymous SNV P712P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.635 270659 chr15 54305156 54305156 A G rs760116483 UNC13C Nonsynonymous SNV K19R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 270660 chr19 55693480 55693480 G A rs372963277 PTPRH Synonymous SNV D856D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 270661 chr6 49976944 49976944 G A rs780790692 DEFB110 Synonymous SNV C32C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 270662 chr6 26451905 26451905 G T rs775823033 BTN3A3 Nonsynonymous SNV D131Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24 270663 chr17 27419441 27419441 C T rs751433687 MYO18A Nonsynonymous SNV V1666M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 28.3 270664 chr17 38978481 38978481 T A rs752641828 KRT10 Synonymous SNV G119G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.672 270665 chr6 99374399 99374399 C T FBXL4 Nonsynonymous SNV A156T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 270666 chr6 87964795 87964795 T A ZNF292 Nonsynonymous SNV V483E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 270667 chr17 39394622 39394622 C T rs75361905 KRTAP9-8 Nonsynonymous SNV H107Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 270668 chr17 39394627 39394627 C G rs777800286 KRTAP9-8 Synonymous SNV P108P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.737 270669 chr6 96990879 96990879 A G rs763224414 UFL1 Synonymous SNV Q463Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.103 270670 chr19 6678219 6678221 CTC - rs760312547 C3 E1598del 0 0 0.003 0 0 0 0 1 0 0 0 0 270671 chr17 39978042 39978042 C A FKBP10 Nonsynonymous SNV N512K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 270672 chr6 107088232 107088232 G A rs117167190 QRSL1 Synonymous SNV A11A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 270673 chr6 118475647 118475647 C T SLC35F1 Synonymous SNV S71S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 270674 chr17 40075227 40075227 G C ACLY Nonsynonymous SNV P14R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.16 270675 chr17 38031559 38031559 A T ZPBP2 Nonsynonymous SNV H232L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.71 270676 chr6 125583996 125583996 C T rs780555981 TPD52L1 Nonsynonymous SNV T155M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 270677 chr17 40647652 40647652 C T rs138172466 ATP6V0A1 Nonsynonymous SNV T500M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 270678 chr17 40734812 40734812 T C RETREG3 Nonsynonymous SNV T275A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.776 270679 chr6 130762518 130762518 T C rs990903627 TMEM200A Synonymous SNV S317S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 270680 chr6 135518336 135518336 C T rs371380453 MYB Stop gain R481X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 270681 chr17 42429497 42429497 C G rs63750130 GRN Nonsynonymous SNV R432G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 270682 chr17 43005517 43005517 C T KIF18B Nonsynonymous SNV R730Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 270683 chr6 139694600 139694600 C G CITED2 Nonsynonymous SNV S161T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.276 270684 chr17 45915917 45915917 G A rs185581282 SCRN2 Synonymous SNV T306T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.62 270685 chr17 46622134 46622134 G C rs898753583 HOXB2 Nonsynonymous SNV P47R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 270686 chr17 43319468 43319468 G T FMNL1 Nonsynonymous SNV G614C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.85 270687 chr6 158922823 158922823 G T rs769418143 TULP4 Nonsynonymous SNV V710L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 270688 chr17 48917676 48917676 C T rs957382387 WFIKKN2 Nonsynonymous SNV R250C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 270689 chr6 160500638 160500638 C T rs918196052 IGF2R Synonymous SNV S1835S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 270690 chr6 165703524 165703524 G A rs201051493 C6orf118 Stop gain R385X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 270691 chr17 5087234 5087234 T C rs151115892 ZNF594 Synonymous SNV Q106Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 270692 chr1 11589667 11589667 G A rs552419541 DISP3 Nonsynonymous SNV M951I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.199 270693 chr17 60768368 60768368 G A rs774918221 MRC2 Synonymous SNV P1357P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.283 270694 chr16 1962139 1962139 G A HS3ST6 Stop gain R161X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 270695 chr6 117996971 117996971 C T NUS1 Synonymous SNV A46A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.16 270696 chr6 168265355 168265355 A G AFDN Nonsynonymous SNV E77G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 270697 chr17 57134247 57134247 T A TRIM37 Synonymous SNV T242T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.203 270698 chr1 1248323 1248323 C T rs143110978 INTS11 Nonsynonymous SNV V282I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 270699 chr1 1354773 1354773 G A rs780567034 ANKRD65 Nonsynonymous SNV L303F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 270700 chr16 2140910 2140910 G A rs775512866 PKD1 Nonsynonymous SNV S3992L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 270701 chr17 60865846 60865846 T C MARCHF10 Nonsynonymous SNV K69E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 270702 chr7 6072555 6072555 A G rs115362245 ANKRD61 Nonsynonymous SNV D101G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 270703 chr17 65936664 65936664 A G rs150366027 BPTF Synonymous SNV S2123S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.079 270704 chr11 65305747 65305747 C A SCYL1 Nonsynonymous SNV P735T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.721 270705 chr7 17913195 17913195 G A rs201830759 SNX13 Nonsynonymous SNV P237S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 270706 chr6 147685184 147685184 C A rs750897111 STXBP5 Nonsynonymous SNV T952N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 270707 chr6 151152395 151152395 A C rs201032405 PLEKHG1 Nonsynonymous SNV Q677H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 270708 chr6 151674531 151674531 G A rs764852073 AKAP12 Nonsynonymous SNV G1564R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 270709 chr7 24742392 24742392 G A rs775797918 GSDME Nonsynonymous SNV T251I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.147 270710 chr17 72733223 72733223 C T rs776204456 RAB37 Synonymous SNV T25T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.331 270711 chr7 26765184 26765184 T C SKAP2 Nonsynonymous SNV D48G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 270712 chr7 27195919 27195919 G C rs750200293 HOXA7 Nonsynonymous SNV C82W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 270713 chr1 156670829 156670829 A G rs148275466 CRABP2 Nonsynonymous SNV L29P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 270714 chr1 156675179 156675179 G C CRABP2 Synonymous SNV L20L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.4 270715 chr17 7010367 7010367 G A ASGR2 Synonymous SNV C186C 0 0 0 1 0 0 0.003 0 0 0 0 0 3.726 270716 chr7 39612252 39612252 G C YAE1 Nonsynonymous SNV V210L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 270717 chr6 160670374 160670374 A C rs755405568 SLC22A2 Nonsynonymous SNV I239S 0.003 0 0 0 3 0 0 0 0 0 0 0 29 270718 chr1 158651369 158651369 A C SPTA1 Nonsynonymous SNV F160C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 270719 chr17 76160433 76160433 G A rs371151177 C17orf99 Nonsynonymous SNV V210M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.728 270720 chr7 47835601 47835601 T C rs971495444 PKD1L1 Nonsynonymous SNV M2781V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 270721 chr6 170176724 170176724 C T rs200319641 ERMARD Nonsynonymous SNV T439M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.44 270722 chr11 74208032 74208032 C T LOC100287896 Nonsynonymous SNV H28Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.986 270723 chr7 47876561 47876561 G A rs372830145 PKD1L1 Synonymous SNV Y1967Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.091 270724 chr1 161021334 161021334 C T rs144590603 ARHGAP30 Nonsynonymous SNV R220Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 270725 chr17 76967811 76967811 G A rs372154502 LGALS3BP Synonymous SNV T535T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.991 270726 chr17 78157795 78157795 C A rs781101097 CARD14 Nonsynonymous SNV Q145K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.46 270727 chr17 78157816 78157816 C T rs780493135 CARD14 Nonsynonymous SNV R152W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27 270728 chr1 167666889 167666889 C G rs1043355219 RCSD1 Nonsynonymous SNV A289G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 270729 chr1 167905024 167905024 T C rs150529062 MPC2 Nonsynonymous SNV K19R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.366 270730 chr1 168013822 168013822 G A DCAF6 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 270731 chr17 79100252 79100252 G A AATK Nonsynonymous SNV L141F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 270732 chr17 79496003 79496003 G A rs181961770 FSCN2 Nonsynonymous SNV R149Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.6 270733 chr17 79872228 79872228 G A SIRT7 Nonsynonymous SNV A253V 0.001 0 0 0 1 0 0 0 0 0 0 0 28 270734 chr7 82784614 82784614 T C PCLO Nonsynonymous SNV K448R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 270735 chr7 87445542 87445542 A T rs768751804 RUNDC3B Nonsynonymous SNV D348V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 270736 chr7 89969754 89969754 T C rs888251099 LOC101927446 0.001 0 0 0 1 0 0 0 0 0 0 0 4.539 270737 chr7 91729139 91729139 G A AKAP9 Nonsynonymous SNV E3618K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 270738 chr7 91729140 91729140 A T AKAP9 Nonsynonymous SNV E3618V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 270739 chr17 8168662 8168662 A G rs1022509287 PFAS Synonymous SNV A779A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.588 270740 chr17 8243702 8243702 C A rs900032453 ODF4 Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.968 270741 chr7 98547306 98547306 C T rs369988548 TRRAP Synonymous SNV N1634N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 270742 chr7 99204467 99204467 C T rs117141110 TMEM225B Nonsynonymous SNV P102L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 270743 chr7 99461219 99461219 G A rs145743239 CYP3A43 Nonsynonymous SNV G328E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 270744 chr7 99569568 99569568 C T rs531536797 AZGP1 Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 270745 chr1 18688663 18688663 G T rs140409401 IGSF21 Nonsynonymous SNV R160L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 270746 chr1 197009713 197009713 T C F13B Nonsynonymous SNV I631V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 270747 chr18 30518024 30518024 A G rs766278890 CCDC178 Nonsynonymous SNV L814S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 270748 chr12 109186501 109186501 T A rs147936147 SSH1 Nonsynonymous SNV D496V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 270749 chr7 99262924 99262924 A - rs771170846 CYP3A5 Y179Tfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 270750 chr1 201084371 201084371 G A ASCL5 Nonsynonymous SNV P44S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 270751 chr7 99693651 99693651 G A rs150968866 MCM7 Synonymous SNV F271F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 270752 chr12 109999272 109999272 C T rs925180956 MMAB Nonsynonymous SNV D158N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 270753 chr18 34232616 34232616 C G FHOD3 Nonsynonymous SNV A457G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.817 270754 chr7 100551103 100551103 A G rs371410398 MUC3A Nonsynonymous SNV T562A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.874 270755 chr18 43523250 43523250 G A rs760748113 EPG5 Nonsynonymous SNV P607L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.7 270756 chr7 100552029 100552029 T C rs373027088 MUC3A Synonymous SNV I870I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.184 270757 chr18 48581156 48581156 T G rs864622209 SMAD4 Nonsynonymous SNV S154A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 2.482 270758 chr1 205272642 205272642 G C NUAK2 Nonsynonymous SNV T608R 0 0 0.003 0 0 0 0 1 0 0 0 0 13 270759 chr18 48703394 48703394 G A rs374845418 MEX3C Nonsynonymous SNV A436V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.61 270760 chr7 100647996 100647996 C T rs10249439 MUC12 Nonsynonymous SNV P4718S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.03 270761 chr7 100676419 100676419 C T rs115082361 MUC17 Synonymous SNV N574N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.118 270762 chr7 100679650 100679650 T G rs146418056 MUC17 Synonymous SNV L1651L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.162 270763 chr1 207110812 207110812 C A rs768865698 PIGR Nonsynonymous SNV D225Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 270764 chr1 207639978 207639978 C T rs780129217 CR2 Nonsynonymous SNV R56C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 270765 chr7 100684570 100684570 A T rs527760825 MUC17 Synonymous SNV T3291T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 270766 chr7 100684571 100684571 A C rs148464170 MUC17 Nonsynonymous SNV T3292P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.279 270767 chr7 100684573 100684573 G A rs144023476 MUC17 Synonymous SNV T3292T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.12 270768 chr7 100686115 100686115 G A rs116681179 MUC17 Nonsynonymous SNV M3806I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.256 270769 chr7 100701288 100701288 G A rs9656065 MUC17 Nonsynonymous SNV R4482Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.151 270770 chr7 100731091 100731091 G A rs200165536 TRIM56 Synonymous SNV A166A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 270771 chr7 100732261 100732261 C T rs200935719 TRIM56 Synonymous SNV A556A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.311 270772 chr1 20975752 20975752 C T rs373608394 PINK1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 4.316 270773 chr18 43678189 43678189 G C rs749222521 ATP5F1A Synonymous SNV S3S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 270774 chr1 214500974 214500974 G A rs377331966 SMYD2 Synonymous SNV L204L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 270775 chr1 214832231 214832231 A G rs747538970 CENPF Nonsynonymous SNV I3001V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 270776 chr1 21625408 21625408 C - rs540913486 LOC100506801 0 0 0.003 0 0 0 0 1 0 0 0 0 270777 chr7 121755226 121755226 G A rs145752623 AASS Synonymous SNV N315N 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 12.62 270778 chr1 216850461 216850461 T C rs76399958 ESRRG Synonymous SNV A120A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.191 270779 chr7 122303393 122303393 T C rs537152855 CADPS2 Synonymous SNV A228A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.964 270780 chr1 216850752 216850752 T C rs80191163 ESRRG Synonymous SNV P23P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.327 270781 chr18 67781783 67781783 T C rs34533087 RTTN Nonsynonymous SNV E282G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 16.34 270782 chr18 67872400 67872400 C T rs34922729 RTTN Synonymous SNV K61K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 13.98 270783 chr1 22156505 22156505 C T rs144447618 HSPG2 Synonymous SNV S3918S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.38 270784 chr18 55309047 55309047 G A rs558506112 LOC100505549 0 0 0 1 0 0 0.003 0 0 0 0 0 5.517 270785 chr7 131122549 131122549 T C MKLN1 Synonymous SNV G115G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.488 270786 chr12 133733212 133733212 A G rs752999328 ZNF10 Synonymous SNV P460P 0.002 0 0.003 0 2 0 0 1 1 0 0 0 6.955 270787 chr18 747988 747988 G A rs148034301 YES1 Synonymous SNV I134I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 270788 chr7 138603706 138603706 A G rs374615402 KIAA1549 Synonymous SNV Y222Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 270789 chr12 1963135 1963135 A T rs199498850 CACNA2D4 Nonsynonymous SNV L743Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 270790 chr7 139168334 139168334 T C rs762407235 KLRG2 Nonsynonymous SNV M19V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.163 270791 chr1 228552696 228552696 G A rs374208048 OBSCN Nonsynonymous SNV V6286M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 270792 chr18 77733691 77733691 G A rs143131944 TXNL4A Synonymous SNV R133R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.93 270793 chr19 10798152 10798152 C T rs2304159 ILF3 Synonymous SNV H730H 0.003 0 0 0 3 0 0 0 0 0 0 0 14.95 270794 chr12 32994074 32994074 T C rs397516999 PKP2 Nonsynonymous SNV T482A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.998 270795 chr1 23836456 23836456 G A rs764168899 E2F2 Synonymous SNV D410D 0 0 0.007 0 0 0 0 2 0 0 0 0 6.551 270796 chr7 150554681 150554681 G A rs536600538 AOC1 Nonsynonymous SNV G375S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 270797 chr19 12243602 12243602 G A rs779398937 ZNF20 Stop gain R464X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 270798 chr19 12939475 12939475 C T rs377580230 RTBDN Nonsynonymous SNV A121T 0.003 0 0 0 4 0 0 0 0 0 0 0 18.97 270799 chr19 12777468 12777468 C T rs777286610 MAN2B1 Synonymous SNV L16L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.931 270800 chr19 15198157 15198157 T C rs757403166 OR1I1 Nonsynonymous SNV F94S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 270801 chr19 14218639 14218639 G A rs41296252 PRKACA Nonsynonymous SNV P53L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.54 270802 chr1 246707857 246707857 C T rs945783036 TFB2M Nonsynonymous SNV G329R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 270803 chr19 15220715 15220715 G T SYDE1 Nonsynonymous SNV G144W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 270804 chr19 17343186 17343186 T C NR2F6 Nonsynonymous SNV N397S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 8.651 270805 chr8 6357383 6357383 C G rs781720931 MCPH1 Nonsynonymous SNV S716C 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.9 270806 chr8 17417961 17417961 A C SLC7A2 Nonsynonymous SNV S475R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.436 270807 chr8 17478709 17478709 C T rs190976134 PDGFRL Nonsynonymous SNV T168I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 270808 chr1 31654716 31654716 G A rs757715600 NKAIN1 Nonsynonymous SNV P202L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 270809 chr1 32148545 32148545 G C rs770736773 COL16A1 Nonsynonymous SNV S843C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 270810 chr1 33161592 33161592 T C rs778003748 SYNC Nonsynonymous SNV N36S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 270811 chr19 22256358 22256358 A G rs73930397 ZNF257 Nonsynonymous SNV K73R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.002 270812 chr1 36785549 36785549 C T rs371018470 SH3D21 Nonsynonymous SNV P318S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 270813 chr19 2807496 2807496 G A rs373793508 THOP1 Nonsynonymous SNV E315K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 270814 chr19 2917616 2917616 G A rs772107529 ZNF57 Nonsynonymous SNV D301N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.99 270815 chr19 3013800 3013800 G T rs374109806 TLE2 Nonsynonymous SNV P125H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 270816 chr8 38883356 38883356 T C ADAM9 Nonsynonymous SNV F317L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 270817 chr7 157931044 157931044 T C PTPRN2 Synonymous SNV G320G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 270818 chr8 42939890 42939890 C T FNTA Synonymous SNV L295L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 270819 chr12 6730073 6730073 G A LPAR5 Synonymous SNV L114L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 270820 chr1 45470438 45470438 G A rs567272691 HECTD3 Nonsynonymous SNV T659M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 270821 chr8 56711721 56711721 A G rs143298001 TGS1 Synonymous SNV P504P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.344 270822 chr12 7362713 7362713 G A rs146567534 PEX5 Nonsynonymous SNV S597N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 270823 chr19 36394688 36394688 T C rs148597733 HCST Nonsynonymous SNV C42R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 27.2 270824 chr8 92982997 92982997 G A rs200135456 RUNX1T1 Synonymous SNV H439H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 270825 chr8 98943402 98943402 C T rs368952003 MATN2 Nonsynonymous SNV R122C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 270826 chr8 12957657 12957657 C T rs140340878 DLC1 Nonsynonymous SNV R219Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 270827 chr1 62734147 62734147 G A rs138015531 KANK4 Synonymous SNV S53S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 270828 chr1 64089210 64089210 A G rs376491296 PGM1 Nonsynonymous SNV T27A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 270829 chr19 40886971 40886971 C T HIPK4 Synonymous SNV E309E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.223 270830 chr19 38834724 38834724 C T CATSPERG Synonymous SNV S187S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.294 270831 chr19 41188660 41188660 C G rs146670642 NUMBL Synonymous SNV G83G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 270832 chr19 39208597 39208597 C G rs143174736 ACTN4 Nonsynonymous SNV Q392E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.97 270833 chr1 68948535 68948535 T C rs563988599 DEPDC1 Nonsynonymous SNV H319R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.729 270834 chr19 39336642 39336642 C T rs754414985 HNRNPL Nonsynonymous SNV D26N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 270835 chr1 74835976 74835976 C T rs762791294 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV L558F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 270836 chr1 75039159 75039159 G - rs762535200 ERICH3 F745Lfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 270837 chr8 133919133 133919133 C T rs368926894 TG Nonsynonymous SNV R1279W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 270838 chr8 143399948 143399948 C G rs149572193 TSNARE1 Nonsynonymous SNV S95T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.028 270839 chr19 41313787 41313787 G A rs374000050 RAB4B-EGLN2 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 270840 chr1 87805822 87805822 T A rs20570 LMO4 Synonymous SNV P142P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.615 270841 chr19 4217663 4217663 C T ANKRD24 Synonymous SNV L836L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.7 270842 chr13 114062364 114062364 G T LOC101928841 Nonsynonymous SNV S47R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.064 270843 chr1 91297185 91297185 A G rs150428532 LINC02609 0 0 0.007 0 0 0 0 2 0 0 0 0 4.704 270844 chr8 144990742 144990742 G A rs201855218 PLEC Nonsynonymous SNV T4402M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.28 270845 chr20 10386325 10386325 T A MKKS Nonsynonymous SNV D428V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.238 270846 chr8 85785605 85785605 A G RALYL Nonsynonymous SNV I209V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 270847 chr19 45811737 45811737 C T rs367853842 CKM Nonsynonymous SNV R236Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 270848 chr19 46001882 46001882 G A rs762642299 PPM1N Nonsynonymous SNV R51H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.84 270849 chr13 36747929 36747929 G A CCDC169-SOHLH2, SOHLH2 Synonymous SNV S300S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.167 270850 chr19 4683897 4683897 G A rs767558918 DPP9-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.916 270851 chr19 45165031 45165032 AG - rs754568041 PVR N352Qfs*134 0.001 0 0 0 1 0 0 0 0 0 0 0 270852 chr19 47424144 47424144 G T rs759688841 ARHGAP35 Nonsynonymous SNV A738S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.26 270853 chr9 340194 340194 A G rs777318020 DOCK8 Nonsynonymous SNV I450V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.94 270854 chr20 1961382 1961382 T G rs759637367 PDYN Nonsynonymous SNV K118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 270855 chr19 46333372 46333372 C T rs749939359 SYMPK Synonymous SNV L563L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 270856 chr9 17342358 17342358 A C rs776118636 CNTLN Nonsynonymous SNV Q601P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.257 270857 chr8 113960023 113960023 A C CSMD3 Nonsynonymous SNV F372V 0.002 0 0 0 2 0 0 0 1 0 0 0 27.1 270858 chr13 70681594 70681594 A G rs766532705 KLHL1 Nonsynonymous SNV S80P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.059 270859 chr8 121587342 121587342 G C SNTB1 Nonsynonymous SNV P374A 0.002 0 0 0 2 0 0 0 0 0 0 0 27.4 270860 chr19 49918252 49918252 C T rs375130235 CCDC155 Nonsynonymous SNV T458M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 270861 chr19 49933832 49933832 C T rs142784861 SLC17A7 Nonsynonymous SNV A543T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 270862 chr8 126079870 126079870 C T WASHC5 Synonymous SNV L266L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 270863 chr20 34191801 34191801 C A rs367983638 FER1L4 0 0 0.014 0 0 0 0 4 0 0 0 0 12.8 270864 chr9 74360045 74360045 C T CEMIP2 Nonsynonymous SNV R308Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 270865 chr8 143625720 143625720 C T rs370020603 ADGRB1 Nonsynonymous SNV S1566L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 270866 chr20 40081514 40081514 G A rs748974589 CHD6 Synonymous SNV D1063D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 270867 chr20 43251662 43251662 C T rs371353841 ADA Nonsynonymous SNV E87K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.444 270868 chr18 19065596 19065596 G A GREB1L Nonsynonymous SNV E858K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 270869 chr20 44313556 44313556 G A rs780863013 WFDC10B Synonymous SNV I61I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.894 270870 chr19 51920809 51920809 C T SIGLEC10 Synonymous SNV S9S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.47 270871 chr20 44352649 44352649 G A SPINT4 Synonymous SNV K82K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.42 270872 chr9 93626912 93626912 A G rs34489331 SYK Synonymous SNV R253R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.139 270873 chr8 144919657 144919657 T A NRBP2 Nonsynonymous SNV E333V 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 270874 chr9 95609327 95609327 A C rs149412014 ZNF484 Nonsynonymous SNV V545G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 270875 chr9 96305745 96305745 C T rs114775999 FAM120A Synonymous SNV C716C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 270876 chr9 100204002 100204002 A G rs758372213 TDRD7 Nonsynonymous SNV M160V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.239 270877 chr9 97321250 97321250 G C rs746420394 FBP2, PCAT7 Synonymous SNV T330T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 270878 chr8 145057418 145057418 C T rs782116682 PARP10 Nonsynonymous SNV R792H 0.003 0 0 0 3 0 0 0 0 0 0 0 18.92 270879 chr20 56137758 56137758 C T rs28359542 PCK1 Nonsynonymous SNV T138I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28.8 270880 chr19 54656703 54656703 C T CNOT3 Synonymous SNV T668T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.34 270881 chr9 103064566 103064566 A T rs767939276 TEX10 Synonymous SNV V883V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.432 270882 chr8 145697769 145697769 G C rs199871933 KIFC2 Nonsynonymous SNV E545Q 0.003 0 0 0 3 0 0 0 0 0 0 0 9.035 270883 chr19 55708686 55708686 C T rs371152156 PTPRH Nonsynonymous SNV V419I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.001 270884 chr9 113259107 113259107 G C SVEP1 Nonsynonymous SNV N596K 0.001 0 0 0 1 0 0 0 0 0 0 0 29 270885 chr20 61468520 61468520 G A rs143244629 COL9A3 Synonymous SNV G563G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.176 270886 chr9 114090562 114090562 A G rs573835418 OR2K2 Nonsynonymous SNV L51P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 270887 chr14 23771399 23771399 C T PPP1R3E Synonymous SNV A129A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 270888 chr20 62202199 62202199 C A HELZ2 Nonsynonymous SNV D101Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 270889 chr14 24774289 24774289 A G rs1004397389 NOP9 Nonsynonymous SNV I633M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 270890 chr19 55672464 55672464 A C DNAAF3 Nonsynonymous SNV L362R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 270891 chr21 18821422 18821422 - T rs148812719 LINC01549 0 0 0.003 0 0 0 0 1 0 0 0 0 270892 chr9 117803295 117803295 C T rs137933052 TNC Nonsynonymous SNV V1773M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 16.45 270893 chr21 27840920 27840920 A G rs376907495 CYYR1 Nonsynonymous SNV M123T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 270894 chr21 34635606 34635606 C T rs866733383 IFNAR2 Nonsynonymous SNV S450L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 270895 chr14 50805680 50805680 T C CDKL1 Synonymous SNV P242P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.368 270896 chr21 37581130 37581130 G C DOP1B Synonymous SNV V203V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.658 270897 chr9 125680968 125680968 C T rs375370308 ZBTB26 Nonsynonymous SNV D416N 0.001 0 0 0 1 0 0 0 0 0 0 0 27 270898 chr9 126414351 126414351 G A rs369785375 DENND1A Synonymous SNV L155L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 270899 chr9 129870823 129870823 T A rs774885766 ANGPTL2 Nonsynonymous SNV Q63L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 270900 chr21 43531299 43531403 GGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCGAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAACCCCAGCCAGC - UMODL1 P586_S620del 0 0 0.003 0 0 0 0 1 0 0 0 0 270901 chr19 58596454 58596454 C A rs766313646 ZSCAN18 Synonymous SNV G241G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 270902 chr19 813346 813346 C G rs751876527 PLPPR3 Nonsynonymous SNV E489Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.757 270903 chr19 57088671 57088671 G A rs777133449 ZNF470 Nonsynonymous SNV A292T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 270904 chr14 65268950 65268950 G A rs184200762 SPTB Nonsynonymous SNV T187M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 270905 chr14 70633727 70633727 G A rs763392429 SLC8A3 Synonymous SNV D471D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.023 270906 chr19 10748564 10748564 G A SLC44A2 Synonymous SNV S574S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.873 270907 chr9 137716496 137716496 G A rs775725420 COL5A1 Synonymous SNV T1583T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 270908 chr19 7687293 7687293 C T rs139001512 XAB2 Nonsynonymous SNV R514H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 270909 chr21 47831813 47831813 G A rs536281306 PCNT Synonymous SNV R1824R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.012 270910 chr9 138589442 138589442 G A rs146311290 SOHLH1 Nonsynonymous SNV S126L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.03 270911 chr9 137726837 137726837 G C COL5A1 Nonsynonymous SNV E1719D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.898 270912 chr14 75245262 75245262 C A rs77448538 YLPM1 Nonsynonymous SNV P329Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.99 270913 chr19 7755427 7755427 C T rs61736324 FCER2 Synonymous SNV T161T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.12 270914 chr9 139357517 139357517 T C SEC16A Nonsynonymous SNV K1572R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 270915 chr14 75551321 75551321 T G rs61745420 NEK9 Nonsynonymous SNV L974F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.25 270916 chr14 75590924 75590924 A G rs202032678 NEK9 Synonymous SNV D74D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.19 270917 chr19 13227160 13227160 G A rs546409804 TRMT1 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.247 270918 chr19 8191661 8191661 G A rs200569494 FBN3 Synonymous SNV A784A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.834 270919 chr22 22317233 22317233 T C rs757138179 TOP3B Nonsynonymous SNV T413A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 270920 chr9 139935002 139935002 C T rs369675087 NPDC1 Synonymous SNV A224A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 270921 chr9 140331421 140331421 C T rs956599665 ENTPD8 Nonsynonymous SNV R152Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.025 270922 chr10 871246 871246 T C LARP4B Nonsynonymous SNV K415E 0.001 0 0 0 1 0 0 0 0 0 0 0 29 270923 chr22 30768193 30768193 G C rs777556030 CCDC157 Nonsynonymous SNV G418A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.007 270924 chr19 9067993 9067993 C A MUC16 Nonsynonymous SNV D6485Y 0.003 0 0 0 3 0 0 0 0 0 0 0 3.482 270925 chr19 9077623 9077623 C G rs201118876 MUC16 Nonsynonymous SNV E3275Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.101 270926 chr22 35731697 35731697 G A rs9607265 MIR3909 0 0 0.003 0 0 0 0 1 0 0 0 0 2.847 270927 chr10 15879295 15879295 G A rs138124154 MINDY3 Nonsynonymous SNV P162S 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 6.112 270928 chr1 110923700 110923700 A G rs140247089 SLC16A4 Synonymous SNV L34L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 270929 chr22 38318362 38318362 C G rs565694573 MICALL1 Nonsynonymous SNV T318R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 270930 chr22 39910295 39910295 A C MIEF1 Synonymous SNV S453S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 270931 chr1 11273470 11273470 T C rs145595429 MTOR Nonsynonymous SNV I1091V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.78 270932 chr10 35894504 35894504 C T rs148424175 GJD4 Synonymous SNV G3G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.71 270933 chr1 114226219 114226219 G T rs1036459559 MAGI3 Nonsynonymous SNV Q1343H 0.003 0 0 0 3 0 0 0 0 0 0 0 13.66 270934 chr22 46654582 46654582 A G rs368543972 PKDREJ Synonymous SNV D1546D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 270935 chr22 46657276 46657276 A G rs370531606 PKDREJ Synonymous SNV Y648Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 270936 chr22 48025406 48025406 A T rs28636544 LINC00898 0 0 0.007 0 0 0 0 2 0 0 0 0 0.633 270937 chr1 101427453 101427453 T C rs371661746 SLC30A7 Synonymous SNV S304S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.137 270938 chr10 48388988 48388988 C T rs888192041 RBP3 Synonymous SNV L630L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.282 270939 chr7 102769035 102769035 C G NAPEPLD Synonymous SNV G63G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 270940 chr10 50532475 50532475 G C C10orf71 Nonsynonymous SNV G629R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 270941 chr1 12475234 12475234 A G rs1002936390 VPS13D Nonsynonymous SNV K4017R 0.003 0 0 0 3 0 0 0 0 0 0 0 17.09 270942 chr10 50533988 50533988 A G rs771449300 C10orf71 Nonsynonymous SNV D1133G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 270943 chr1 1259986 1259986 C T rs950151797 INTS11 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 270944 chr10 50594810 50594810 G A rs985358606 DRGX Nonsynonymous SNV T110I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 270945 chr15 45491220 45491220 A G rs376077702 SHF Nonsynonymous SNV L18P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 270946 chr1 145534137 145534137 C T rs781856007 ITGA10 Nonsynonymous SNV R405W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 270947 chr1 150443561 150443561 A G RPRD2 Nonsynonymous SNV T687A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.65 270948 chr2 1161233 1161233 G A rs769083432 SNTG2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 270949 chr10 75830797 75830797 A G rs751528827 VCL Nonsynonymous SNV E152G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 270950 chr1 12027100 12027100 G A rs139468110 PLOD1 Synonymous SNV L569L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.04 270951 chr10 13699231 13699231 C T rs150697590 FRMD4A Synonymous SNV R477R 0.002 0 0 0 2 0 0 0 0 0 0 0 5.984 270952 chr1 15497746 15497746 G A C1orf195 Nonsynonymous SNV P10L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.85 270953 chr2 128384554 128384554 C T rs200104496 MYO7B Nonsynonymous SNV P1381L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.541 270954 chr2 131521732 131521732 C T AMER3 Nonsynonymous SNV P696L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.696 270955 chr10 89264719 89264719 C T rs770939211 MINPP1 Nonsynonymous SNV A16V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.962 270956 chr2 133543233 133543233 A G rs371890936 NCKAP5 Nonsynonymous SNV F384S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 270957 chr2 138421042 138421042 G A THSD7B Synonymous SNV E1516E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.174 270958 chr19 4207880 4207880 C T rs779858519 ANKRD24 Synonymous SNV D249D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 270959 chr15 72495523 72495523 G A rs199599246 PKM Nonsynonymous SNV R388C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 270960 chr1 156640427 156640427 C A NES Stop gain E1185X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 270961 chr15 74912421 74912421 G A rs146329671 CLK3 Nonsynonymous SNV R223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 270962 chr15 78562936 78562936 C T rs760245213 DNAJA4 Nonsynonymous SNV S77L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.056 270963 chr2 163236493 163236493 G A rs754112773 KCNH7 Nonsynonymous SNV H1001Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 270964 chr10 101716329 101716329 G A DNMBP Nonsynonymous SNV P301L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 270965 chr1 15911258 15911258 C A rs770873087 AGMAT Stop gain E69X 0.003 0 0 0 4 0 0 0 0 0 0 0 38 270966 chr2 167162337 167162337 C T rs200182914 SCN9A Synonymous SNV P187P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.43 270967 chr1 160789146 160789146 G A LY9 Nonsynonymous SNV A404T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.025 270968 chr10 104263959 104263959 C T rs12780580 SUFU Nonsynonymous SNV A17V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 270969 chr2 175618999 175618999 C G rs375645058 CHRNA1 Nonsynonymous SNV S163T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.1 270970 chr19 4511915 4511915 A C PLIN4 Nonsynonymous SNV V686G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 270971 chr2 179396888 179396890 TTC - rs780929362 TTN E25753del 0 0 0.003 0 0 0 0 1 0 0 0 0 270972 chr15 91027467 91027467 T C rs943494137 IQGAP1 Synonymous SNV T1268T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.541 270973 chr1 175049544 175049544 C T rs140077325 TNN Nonsynonymous SNV H344Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 270974 chr1 179494574 179494574 G A rs140335274 AXDND1 Nonsynonymous SNV A868T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 270975 chr16 10992808 10992808 G C rs751742953 CIITA Nonsynonymous SNV G129R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.429 270976 chr10 125426234 125426234 G T GPR26 Nonsynonymous SNV R104L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 270977 chr1 179886877 179886877 G A rs747664520 TOR1AIP1 Nonsynonymous SNV E420K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 270978 chr10 76781961 76781961 A C KAT6B Nonsynonymous SNV K334T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 270979 chr1 186308854 186308854 G C rs147127406 TPR Synonymous SNV L1357L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.713 270980 chr16 15141307 15141307 T C rs150672980 NTAN1 Synonymous SNV Q12Q 0.002 0 0 0 2 0 0 0 0 0 0 0 3.61 270981 chr10 134942966 134942966 G A ADGRA1 Nonsynonymous SNV G448E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 270982 chr1 168037599 168037599 A - DCAF6 Stop gain I659* 0 0 0 1 0 0 0.003 0 0 0 0 0 270983 chr1 19653850 19653850 C T rs759722198 SLC66A1 Synonymous SNV L250L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.34 270984 chr2 218713642 218713642 T C rs760906017 TNS1 Nonsynonymous SNV N408S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 270985 chr11 704526 704526 G A rs182094319 TMEM80 Synonymous SNV A244A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.825 270986 chr1 201179932 201179932 G A rs746028506 IGFN1 Nonsynonymous SNV G1971R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.411 270987 chr10 102005596 102005596 A G rs778313729 CWF19L1 Synonymous SNV D171D 0.002 0 0 0 2 0 0 0 0 0 0 0 4.725 270988 chr16 23421636 23421636 G A rs116153163 COG7 Synonymous SNV F485F 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.87 270989 chr1 202172971 202172987 TGTTTGTCAAGTGTCAA - rs767843726 LGR6 V9Nfs*93 0.002 0 0 0 2 0 0 0 0 0 0 0 270990 chr16 24922689 24922689 C - rs751863251 SLC5A11 L552Cfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 270991 chr16 27460436 27460436 C T rs3093408 IL21R Synonymous SNV A483A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.11 270992 chr16 30038936 30038936 G A C16orf92 Nonsynonymous SNV V136I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.4 270993 chr16 3021339 3021339 C T rs773067432 PAQR4 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 270994 chr2 234250923 234250923 C T rs377460398 SAG Synonymous SNV V351V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 270995 chr11 1651157 1651157 A G rs868519099 KRTAP5-5 Synonymous SNV G29G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.204 270996 chr1 213134508 213134508 C A rs374073809 VASH2 Nonsynonymous SNV P93T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 270997 chr11 2189352 2189352 T C TH Nonsynonymous SNV K182R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 270998 chr11 3249681 3249681 C T rs200462560 MRGPRE Nonsynonymous SNV V117I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.092 270999 chr1 220922063 220922063 C G MTARC2 Nonsynonymous SNV P64A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 271000 chr11 4566877 4566877 C T rs145046460 OR52M1 Nonsynonymous SNV R153W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 271001 chr16 46858301 46858301 T C C16orf87 Nonsynonymous SNV T54A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 271002 chr1 22204972 22204972 T G rs890905458 HSPG2 Synonymous SNV G858G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.986 271003 chr2 26415198 26415198 G A rs142348718 HADHA Synonymous SNV L661L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.715 271004 chr16 67976396 67976396 G A rs372699306 LCAT Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.3 271005 chr16 68156258 68156258 C T rs780357844 NFATC3 Nonsynonymous SNV R158W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 271006 chr2 37502976 37502976 A C PRKD3 Nonsynonymous SNV H436Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 271007 chr1 228295767 228295767 C T rs764244705 MRPL55 Stop gain W15X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 32 271008 chr2 43783495 43783495 T C rs760381683 THADA Nonsynonymous SNV N888S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 271009 chr1 234458943 234458943 G A rs748696372 SLC35F3 Nonsynonymous SNV G407E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 271010 chr1 228487677 228487677 C T rs764293329 OBSCN Synonymous SNV P4523P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.53 271011 chr16 72821201 72821201 G A rs769344872 ZFHX3 Synonymous SNV D2744D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.324 271012 chr1 230910365 230910365 A T rs748009160 CAPN9 Nonsynonymous SNV D251V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 271013 chr16 774966 774966 T C CCDC78 Nonsynonymous SNV Q195R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 271014 chr2 6790613 6790613 C T rs140063979 MIR7515HG 0 0 0.003 0 0 0 0 1 0 0 0 0 0.197 271015 chr1 236306251 236306251 G T rs765168005 GPR137B Nonsynonymous SNV S110I 0.002 0 0 0 2 0 0 0 0 0 0 0 17.56 271016 chr1 220406202 220406202 T C rs768067709 RAB3GAP2 Nonsynonymous SNV K40R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 271017 chr1 223285654 223285654 C T TLR5 Synonymous SNV V240V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.16 271018 chr2 86709704 86709704 C T rs34673273 KDM3A Synonymous SNV L937L 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 13.6 271019 chr2 86732963 86732963 C T rs190867289 CHMP3, RNF103-CHMP3 Synonymous SNV E145E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 271020 chr11 17632647 17632647 C A rs993815613 OTOG Nonsynonymous SNV L1946I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.283 271021 chr3 101395434 101395434 C T rs770730452 ZBTB11-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 271022 chr11 22848776 22848776 G A SVIP Nonsynonymous SNV P68S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 271023 chr1 228529315 228529315 C T rs772355797 OBSCN Nonsynonymous SNV R6012W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 271024 chr11 21594816 21594816 G A rs137896061 NELL1 Nonsynonymous SNV R691H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 271025 chr11 33773146 33773146 A G FBXO3 Synonymous SNV T244T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.339 271026 chr11 34145317 34145317 A G rs368444330 NAT10 Nonsynonymous SNV N236S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 271027 chr3 112724817 112724817 T C rs141847964 NEPRO Nonsynonymous SNV I257V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.021 271028 chr17 1578461 1578461 G A rs770535800 PRPF8 Synonymous SNV V1015V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.59 271029 chr1 248570399 248570399 C A rs758991441 OR2T1 Synonymous SNV V368V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.1 271030 chr17 1631035 1631035 G A rs191700184 WDR81 Nonsynonymous SNV V928M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 271031 chr1 233464159 233464159 C T MAP3K21 Nonsynonymous SNV L129F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 271032 chr11 43471755 43471755 C T TTC17 Synonymous SNV A970A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 271033 chr1 235964179 235964179 T C rs376718077 LYST Nonsynonymous SNV M1311V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.55 271034 chr1 27692843 27692843 G T MAP3K6 Synonymous SNV V82V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.921 271035 chr3 126138990 126138990 C T rs781053138 CFAP100 Nonsynonymous SNV R334W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 271036 chr1 40214683 40214683 A G rs760940629 PPIE Nonsynonymous SNV H206R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 271037 chr3 128720860 128720860 G C EFCC1 Nonsynonymous SNV R130P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 271038 chr17 260334 260334 G T C17orf97 Synonymous SNV G67G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.149 271039 chr1 40928380 40928380 C T rs1024635645 ZFP69B Nonsynonymous SNV P242S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 271040 chr3 131068406 131068406 C A NEK11 Nonsynonymous SNV A434D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 271041 chr1 43308479 43308479 G A rs766474671 ERMAP Nonsynonymous SNV R335H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.996 271042 chr17 28788274 28788274 G A rs749273190 CPD Nonsynonymous SNV R945Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 271043 chr1 44057082 44057082 C T rs968725419 PTPRF Synonymous SNV H463H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.165 271044 chr3 134960058 134960058 C T rs749269203 EPHB1 Synonymous SNV S805S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.77 271045 chr1 41101646 41101646 G T RIMS3 Nonsynonymous SNV R101S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 271046 chr1 50885166 50885166 G C rs369262371 DMRTA2 Nonsynonymous SNV A267G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.22 271047 chr1 47691254 47691254 G A TAL1 Nonsynonymous SNV P103S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 271048 chr17 38130556 38130558 AAG - rs767222554 GSDMA E263del 0.003 0 0 0 3 0 0 0 0 0 0 0 271049 chr17 38936587 38936587 C T rs140903177 KRT27 Nonsynonymous SNV E217K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 271050 chr3 182755201 182755201 T A rs727504003 MCCC1 Nonsynonymous SNV I350F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.5 271051 chr11 62416535 62416535 C T rs770724275 INTS5 Synonymous SNV P339P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 271052 chr11 63233592 63233592 C T rs144730159 PLAAT5 Nonsynonymous SNV R236Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 271053 chr11 61553565 61553565 G A rs201276262 MYRF Nonsynonymous SNV A1096T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 271054 chr11 61730378 61730378 C T rs776628968 BEST1 Synonymous SNV H478H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.539 271055 chr17 40258004 40258004 C T rs781905780 DHX58 Nonsynonymous SNV R334H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 271056 chr11 64374942 64374942 G A rs754019994 NRXN2 Nonsynonymous SNV P576L 0.003 0 0 0 4 0 0 0 0 0 0 0 12.15 271057 chr11 64627720 64627720 G A rs374683879 EHD1 Synonymous SNV S197S 0.003 0 0 0 4 0 0 0 0 0 0 0 11.94 271058 chr17 40838154 40838154 A T rs74967402 CNTNAP1 Nonsynonymous SNV T299S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.69 271059 chr3 31710263 31710263 T C rs777141672 OSBPL10 Nonsynonymous SNV H592R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 271060 chr11 66639263 66639263 C T rs117711892 PC Synonymous SNV T72T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 Benign/Likely benign 19.18 271061 chr17 45452254 45452254 C T EFCAB13 Stop gain Q336X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 271062 chr11 67172941 67172941 C T rs138930014 TBC1D10C Nonsynonymous SNV P9S 0.003 0 0 1 4 0 0.003 0 0 0 0 0 7.835 271063 chr17 46608184 46608184 - GGGCGCTGTGGGCGCTGT HOXB1 A27_P28insHSAHSA 0.001 0 0 0 1 0 0 0 0 0 0 0 271064 chr11 65638728 65638728 G A rs572217864 EFEMP2 Synonymous SNV N89N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.35 271065 chr3 38768181 38768181 C G SCN10A Nonsynonymous SNV E903D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 271066 chr3 38768342 38768342 C G rs145694222 SCN10A Nonsynonymous SNV V850L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.48 271067 chr11 66082528 66082528 C T rs372608765 CD248 Synonymous SNV L657L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 271068 chr3 41996193 41996193 T C rs778149921 ULK4 Nonsynonymous SNV K20R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 271069 chr11 68350585 68350585 T C PPP6R3 Synonymous SNV S378S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.752 271070 chr11 56000610 56000610 C T OR5T2 Nonsynonymous SNV V18I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 271071 chr17 54972931 54972931 C T rs140629949 TRIM25 Synonymous SNV T405T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 271072 chr3 45812818 45812818 C T rs775401748 SLC6A20 Nonsynonymous SNV A239T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 271073 chr11 74419404 74419404 C T rs764059632 CHRDL2 Nonsynonymous SNV E92K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 271074 chr11 92623056 92623056 A T FAT3 Synonymous SNV R4382R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 271075 chr20 2308976 2308976 G A rs551559240 TGM3 Nonsynonymous SNV R433H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 271076 chr3 48696998 48696998 G A rs561081554 CELSR3 Nonsynonymous SNV R1024W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 271077 chr20 31022357 31022357 C T rs146121431 ASXL1 Synonymous SNV L553L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.94 271078 chr1 183190046 183190046 G A rs376553923 LAMC2 Nonsynonymous SNV R197H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.14 271079 chr20 31624307 31624307 G A rs367598730 BPIFB6 Nonsynonymous SNV A212T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.138 271080 chr11 102401361 102401361 G A rs755926694 MMP7 Nonsynonymous SNV A24V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 271081 chr1 185894291 185894291 T C rs149417407 HMCN1 Synonymous SNV N466N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.186 271082 chr20 32868858 32868858 C T rs550680610 AHCY Synonymous SNV P427P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.41 271083 chr3 52529434 52529434 C T rs758817602 STAB1 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 271084 chr20 42302460 42302460 A C rs368379152 MYBL2 Nonsynonymous SNV E12A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.6 271085 chr1 90482962 90482962 A G ZNF326 Nonsynonymous SNV E132G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 271086 chr11 92534270 92534270 C T rs765879241 FAT3 Synonymous SNV H2697H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 271087 chr11 93430224 93430224 A T rs765264761 CEP295 Nonsynonymous SNV T716S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.182 271088 chr20 34067210 34067210 G C CEP250 Nonsynonymous SNV R118P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 271089 chr20 3673754 3673754 G T rs775566842 SIGLEC1 Nonsynonymous SNV T1178N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 271090 chr1 94674856 94674856 C G rs773584921 ARHGAP29 Nonsynonymous SNV E67Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25 271091 chr3 62177219 62177219 G A rs768539358 PTPRG Synonymous SNV P370P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 271092 chr3 67579602 67579602 C T rs201284259 SUCLG2 Nonsynonymous SNV E79K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.7 271093 chr17 72850863 72850863 G A rs755199141 GRIN2C Synonymous SNV S123S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.058 271094 chr11 111724104 111724104 A G ALG9 Synonymous SNV Y127Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 271095 chr20 46255854 46255854 A G rs766741096 NCOA3 Nonsynonymous SNV S156G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 271096 chr20 46264075 46264075 T G rs758098024 NCOA3 Nonsynonymous SNV N374K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 271097 chr20 50405478 50405478 G A rs11698418 SALL4 Synonymous SNV H451H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.071 271098 chr20 5155922 5155922 A G rs781669647 CDS2 Nonsynonymous SNV I96M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 271099 chr20 60921744 60921744 G A LAMA5 Synonymous SNV D395D 0.003 0 0 1 3 0 0.003 0 1 0 0 0 8.846 271100 chr20 2517284 2517284 A G rs760502611 TMC2 Nonsynonymous SNV K6R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.45 271101 chr4 106552148 106552148 A G rs571536985 ARHGEF38 Nonsynonymous SNV Y201C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 271102 chr11 118970994 118970994 G A rs778726543 DPAGT1 Synonymous SNV V207V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.27 271103 chr17 76567708 76567708 G A rs555197985 DNAH17 Synonymous SNV D232D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 271104 chr11 121028853 121028853 C G rs767039420 TECTA Nonsynonymous SNV P1537A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 271105 chr11 64597001 64597001 G A rs118073941 CDC42BPG Synonymous SNV G1303G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.852 271106 chr20 6022558 6022558 C - LRRN4 V445Ffs*50 0.001 0 0 0 1 0 0 0 0 0 0 0 271107 chr20 62597911 62597911 A G ZNF512B Nonsynonymous SNV V206A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.53 271108 chr4 1244846 1244846 C T rs149208533 CTBP1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 6.221 271109 chr4 13529780 13529780 G C LINC01097 0 0 0.003 0 0 0 0 1 0 0 0 0 3.647 271110 chr20 61443814 61443814 A C rs748335589 OGFR Nonsynonymous SNV K283Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.82 271111 chr17 79870368 79870368 A C SIRT7 Nonsynonymous SNV L376R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 271112 chr12 2906415 2906415 C G FKBP4 Nonsynonymous SNV R73G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 271113 chr17 80054265 80054265 C A FASN Nonsynonymous SNV L19F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 271114 chr20 62305358 62305358 C T rs768009058 RTEL1 Synonymous SNV D54D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.24 271115 chr21 34926414 34926416 ATG - rs779500741 SON D1627del 0.002 0 0 0 2 0 0 0 0 0 0 0 271116 chr17 80730370 80730370 G A rs560749650 TBCD Nonsynonymous SNV V209I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.28 271117 chr11 134064565 134064565 G T NCAPD3 Nonsynonymous SNV L424M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 271118 chr11 69063481 69063481 T C rs758817937 MYEOV Synonymous SNV H130H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.008 271119 chr4 166935693 166935693 A G TLL1 Synonymous SNV R341R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.312 271120 chr12 7015800 7015800 C T LRRC23 Nonsynonymous SNV P155L 0.002 0 0 0 2 0 0 0 0 0 0 0 33 271121 chr21 42609470 42609470 C T rs146426016 BACE2 Synonymous SNV D144D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.98 271122 chr4 170557124 170557124 C T rs752690413 CLCN3 Synonymous SNV S15S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 271123 chr12 6559585 6559585 A G CD27-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.991 271124 chr21 44000456 44000456 T C rs147676461 SLC37A1 Nonsynonymous SNV F530L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.438 271125 chr4 183603097 183603097 C T rs539782102 TENM3 Synonymous SNV H655H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.606 271126 chr12 6672291 6672291 G T NOP2 Nonsynonymous SNV L308I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 271127 chr12 6672584 6672584 G A NOP2 Nonsynonymous SNV S258F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 271128 chr21 40177326 40177326 C A ETS2 Nonsynonymous SNV A19D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.311 271129 chr12 8200581 8200581 G A rs781556338 FOXJ2 Synonymous SNV P307P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.405 271130 chr4 20533624 20533624 A T SLIT2 Nonsynonymous SNV E540V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 271131 chr12 10048401 10048401 T C KLRF2 Nonsynonymous SNV I198T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.198 271132 chr4 3149780 3149780 C G rs1065747 HTT Nonsynonymous SNV A1115G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 14.8 271133 chr4 3251207 3251207 C T rs749088059 MSANTD1 Synonymous SNV T86T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 271134 chr21 44840205 44840205 G A rs141114345 SIK1, SIK1B Nonsynonymous SNV A294V 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 0.578 271135 chr21 46306753 46306753 G A rs144590448 ITGB2 Synonymous SNV I715I 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.308 271136 chr22 19165459 19165459 C G SLC25A1 Nonsynonymous SNV V107L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25 271137 chr20 61947924 61947924 C T rs745514402 COL20A1 Synonymous SNV A848A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.45 271138 chr21 45987705 45987705 G A rs782010486 TSPEAR Synonymous SNV I89I 0.003 0 0 0 3 0 0 0 0 0 0 0 12.43 271139 chr4 54362447 54362447 T A rs763024805 LNX1 Nonsynonymous SNV N269Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 271140 chr22 18022493 18022493 G A rs779595278 CECR2 Synonymous SNV A724A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.88 271141 chr12 27156182 27156182 A G rs144718958 TM7SF3 Nonsynonymous SNV V78A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.68 271142 chr11 120989134 120989134 G A rs759593632 TECTA Nonsynonymous SNV V304M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 271143 chr22 23237736 23237736 G A rs370560112 IGLL5 Synonymous SNV Q94Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.567 271144 chr11 123676699 123676699 C T rs150034702 OR6M1 Nonsynonymous SNV R120H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 271145 chr4 66356350 66356350 T C EPHA5 Nonsynonymous SNV T383A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 271146 chr12 48107084 48107084 G A rs369535739 ENDOU Nonsynonymous SNV S217L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.8 271147 chr22 26348273 26348273 A G rs202126120 MYO18B Nonsynonymous SNV I1953V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 271148 chr22 24236954 24236954 C T MIF-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 9.281 271149 chr22 24463024 24463024 T C CABIN1 Synonymous SNV V658V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.44 271150 chr19 10206835 10206835 C A rs751475613 ANGPTL6 Synonymous SNV A135A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 271151 chr22 30975783 30975783 G A PES1 Nonsynonymous SNV P432S 0 0 0 1 0 0 0.003 0 0 0 0 0 28 271152 chr12 51492655 51492655 T C rs747418942 TFCP2 Synonymous SNV T390T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.396 271153 chr21 44450150 44450150 G A PKNOX1 Nonsynonymous SNV G300D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 271154 chr4 8218798 8218798 C T rs147136028 SH3TC1 Nonsynonymous SNV A172V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 271155 chr22 32804794 32804794 A G rs752674992 RTCB Synonymous SNV D40D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.875 271156 chr19 14037535 14037535 C T rs752747668 CC2D1A Synonymous SNV N690N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.26 271157 chr12 54349050 54349050 G C HOXC12 Nonsynonymous SNV G113R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 271158 chr12 55026024 55026024 C T rs146916712 LACRT 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 271159 chr12 55615094 55615094 G A rs12578318 OR10A7 Nonsynonymous SNV G96S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.6 271160 chr12 56118341 56118341 C A rs886049675 BLOC1S1-RDH5 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.88 271161 chr12 55641429 55641429 C T rs4321039 OR6C74 Nonsynonymous SNV R120C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 271162 chr12 55725551 55725551 G A rs768161718 OR6C3 Nonsynonymous SNV V23M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 271163 chr19 1487157 1487157 G A rs149185728 PCSK4 Nonsynonymous SNV R280W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 271164 chr12 55725746 55725746 A T rs75790912 OR6C3 Nonsynonymous SNV T88S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.028 271165 chr12 55759192 55759192 T - rs398102300 OR6C75 F102Sfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 271166 chr12 56827680 56827680 C T TIMELESS Nonsynonymous SNV R43K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 271167 chr12 55863537 55863537 C T rs58920821 OR6C70 Nonsynonymous SNV R129H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.752 271168 chr5 102611821 102611821 C T rs114035466 C5orf30 Synonymous SNV G67G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 271169 chr12 55886379 55886379 C T rs74659822 OR6C68 Nonsynonymous SNV A73V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 271170 chr19 15131319 15131319 G A rs200013323 CCDC105 Nonsynonymous SNV R241Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 271171 chr12 57535178 57535178 G A rs369753125 LRP1 Nonsynonymous SNV R71Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 271172 chr5 109940822 109940822 T C rs138658941 TMEM232 Nonsynonymous SNV M422V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 271173 chr12 56717139 56717139 G A rs769993364 PAN2 Synonymous SNV H771H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.26 271174 chr22 45258255 45258255 G C rs747174835 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV S361T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.55 271175 chr12 56994811 56994811 G C BAZ2A Nonsynonymous SNV R1456G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 271176 chr19 16038111 16038111 G A rs57519667 CYP4F11 Nonsynonymous SNV R146C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 271177 chr19 1615457 1615457 C T TCF3 Nonsynonymous SNV R549H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 271178 chr5 1244478 1244478 G A rs147278493 SLC6A18 Nonsynonymous SNV G496R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 271179 chr12 76742083 76742083 T G BBS10 Nonsynonymous SNV E19A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 271180 chr12 69983337 69983337 T C rs761624536 CCT2 Synonymous SNV T126T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.657 271181 chr1 59805715 59805715 T G FGGY Nonsynonymous SNV F96C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 271182 chr22 50167945 50167945 C T rs759231162 BRD1 Nonsynonymous SNV R1164H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 271183 chr19 18186622 18186622 G A rs121434494 IL12RB1 Nonsynonymous SNV R213W 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24.1 271184 chr5 138730188 138730188 C T rs929503861 PROB1 Nonsynonymous SNV E195K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 271185 chr2 105886119 105886119 C A TGFBRAP1 Synonymous SNV L672L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 271186 chr2 110372361 110372361 G T rs576462626 SOWAHC Nonsynonymous SNV V99L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.25 271187 chr5 140176733 140176733 C A PCDHA2 Synonymous SNV T728T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 271188 chr12 94772786 94772786 T C rs762860899 CEP83 Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 271189 chr2 113343576 113343576 C G CHCHD5 Nonsynonymous SNV R10G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 271190 chr2 113420496 113420496 G A SLC20A1 Nonsynonymous SNV R645H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 271191 chr19 19221565 19221565 C T rs746409487 SLC25A42 Synonymous SNV G279G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 271192 chr5 140572858 140572858 G A rs142281134 PCDHB10 Nonsynonymous SNV A245T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 271193 chr5 140742097 140742097 C T rs769795967 PCDHGB2 Nonsynonymous SNV P799S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.734 271194 chr5 140768966 140768966 A C rs756857668 PCDHGB4 Synonymous SNV I505I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 271195 chr2 118864736 118864736 A G rs151242514 INSIG2 Nonsynonymous SNV M95V 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 1.069 271196 chr5 140772669 140772669 G A PCDHGA8 Nonsynonymous SNV A97T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 271197 chr12 47629721 47629721 C T rs376253452 PCED1B Nonsynonymous SNV P292L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.608 271198 chr2 102038917 102038917 C T rs370818848 RFX8 Synonymous SNV P30P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.86 271199 chr22 37770661 37770661 G A rs182966816 ELFN2 Nonsynonymous SNV T305M 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.1 271200 chr2 113089061 113089061 T C rs370811853 ZC3H6 Synonymous SNV L856L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.028 271201 chr5 149457715 149457715 T C rs987204580 CSF1R Nonsynonymous SNV D230G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.245 271202 chr19 3293339 3293339 G A rs138777689 CELF5 Synonymous SNV P451P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 271203 chr12 52639262 52639262 C G rs146115975 KRT7 Nonsynonymous SNV R351G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 271204 chr5 153726735 153726735 G A rs200817891 MIR1294 0 0 0.003 0 0 0 0 1 0 0 0 0 5.924 271205 chr2 121746480 121746480 C T GLI2 Nonsynonymous SNV P855L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.324 271206 chr19 36034716 36034716 A G GAPDHS Nonsynonymous SNV Y348C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 271207 chr2 159519838 159519838 A C rs770868336 PKP4 Nonsynonymous SNV M820L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.15 271208 chr5 168098385 168098385 C A rs757648989 SLIT3 Synonymous SNV L1322L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 271209 chr12 122257737 122257737 G C SETD1B Synonymous SNV L1282L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.197 271210 chr2 160074132 160074132 G T rs373000954 TANC1 Synonymous SNV G922G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.492 271211 chr2 160604781 160604781 G A rs142330597 MARCHF7 Nonsynonymous SNV R271H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 271212 chr5 170737156 170737156 G A rs756233258 TLX3 Nonsynonymous SNV A142T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.99 271213 chr5 172587049 172587049 C G BNIP1 Nonsynonymous SNV S128C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 271214 chr5 176318162 176318162 C T rs147731204 HK3 Nonsynonymous SNV G97E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 271215 chr12 124383358 124383412 GTAGGTGAGTGAGGGCGGGGCCAGGGCAGCCCATCCCCAACACCCAATACCCACC - DNAH10 V3095Pfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 271216 chr19 3752896 3752896 G A rs776421510 APBA3 Synonymous SNV G368G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 271217 chr12 132491255 132491255 A G EP400 Nonsynonymous SNV N1046S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 271218 chr5 179305405 179305405 G A rs35754287 TBC1D9B Synonymous SNV P562P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.03 271219 chr2 179554624 179554624 C T rs202234172 TTN 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 271220 chr5 33984409 33984409 G C rs375468358 SLC45A2 Nonsynonymous SNV H94D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 271221 chr12 64746779 64746779 G A rs764750881 C12orf56 Nonsynonymous SNV R104C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 271222 chr20 30345366 30345366 A G TPX2 Synonymous SNV Q29Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.165 271223 chr5 37010222 37010222 G A NIPBL Nonsynonymous SNV M1485I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 271224 chr5 434738 434738 C T rs748535811 AHRR Nonsynonymous SNV S632L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.264 271225 chr2 174086007 174086007 C T MAP3K20 Nonsynonymous SNV P373S 0.003 0 0 0 3 0 0 0 0 0 0 0 17.07 271226 chr5 52227934 52227934 G A rs373095255 ITGA1 Synonymous SNV P943P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 271227 chr13 39263254 39263254 A G rs754817726 FREM2 Synonymous SNV S591S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.544 271228 chr5 54696236 54696236 A G MTREX Nonsynonymous SNV E823G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 271229 chr2 198570328 198570328 C G rs147398599 MARS2 Nonsynonymous SNV L67V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.051 271230 chr5 65088305 65088305 C T NLN Synonymous SNV A450A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.47 271231 chr13 46549539 46549539 C - ZC3H13 E783Nfs*82 0.001 0 0 0 1 0 0 0 0 0 0 0 271232 chr12 103352172 103352186 GCAGCAGCAGCAGCA - rs794726916 ASCL1 Q58_Q62del 0.003 0 0 0 3 0 0 0 0 0 0 0 271233 chr2 202262244 202262244 G T rs758790135 TRAK2 Nonsynonymous SNV S250R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.2 271234 chr13 52603627 52603627 T C rs773326490 UTP14C Synonymous SNV A229A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.48 271235 chr2 207620066 207620066 G A rs369119966 MDH1B Nonsynonymous SNV R95C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.5 271236 chr2 203420750 203420750 G A rs146310981 BMPR2 Nonsynonymous SNV V788I 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 18.4 271237 chr5 79837577 79837577 C G FAM151B Nonsynonymous SNV Q253E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 271238 chr20 53171505 53171505 G A rs199994464 DOK5 Nonsynonymous SNV A34T 0.003 0 0 0 3 0 0 0 0 0 0 0 32 271239 chr2 189898801 189898801 C A rs527433112 COL5A2 Nonsynonymous SNV V1499L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.02 271240 chr2 191399325 191399325 T C NEMP2 Synonymous SNV T19T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.616 271241 chr2 1669992 1669992 C T rs760064177 PXDN Nonsynonymous SNV V429I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 271242 chr2 219256210 219256210 G A rs368600034 SLC11A1 Nonsynonymous SNV V386M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 271243 chr14 20874544 20874544 A T rs143599402 TEP1 Nonsynonymous SNV S195T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.009 271244 chr19 49002401 49002403 TCT - rs909666992 LMTK3 E675del 0.001 0 0 0 1 0 0 0 0 0 0 0 271245 chr19 49131526 49131526 G C rs376253681 SPHK2 Nonsynonymous SNV Q252H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.305 271246 chr14 21769245 21769245 C A rs758436075 RPGRIP1 Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 271247 chr19 49929794 49929794 T C rs113645405 GFY Nonsynonymous SNV M36T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 271248 chr2 220502971 220502971 C T rs775181129 SLC4A3 Nonsynonymous SNV T978M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 271249 chr19 49929845 49929845 A C rs112779181 GFY Nonsynonymous SNV K53T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 271250 chr19 49929900 49929900 G A rs111608975 GFY Synonymous SNV K71K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.572 271251 chr19 49929931 49929931 C G rs112467902 GFY Nonsynonymous SNV P82A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.26 271252 chr6 117130670 117130670 G A GPRC6A Nonsynonymous SNV T102I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 271253 chr6 117681115 117681115 T C ROS1 Nonsynonymous SNV M1169V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 271254 chr19 50040307 50040307 G A rs77227069 RCN3 Nonsynonymous SNV V155M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 271255 chr6 121447566 121447566 C A rs1022943830 TBC1D32 Stop gain E981X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 271256 chr2 228243972 228243972 C T rs372692664 TM4SF20 Nonsynonymous SNV E5K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 271257 chr14 24647316 24647316 C A rs201938690 REC8 Nonsynonymous SNV P294Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 271258 chr14 24707552 24707552 C T rs369201924 GMPR2 Synonymous SNV F284F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 271259 chr14 23609788 23609788 T C SLC7A8 Nonsynonymous SNV Q122R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 271260 chr14 23996872 23996872 A G rs757829523 ZFHX2 Nonsynonymous SNV F1026L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 271261 chr14 24801053 24801053 G A rs746516865 ADCY4 Nonsynonymous SNV R204W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 271262 chr2 219252614 219252614 C T rs781648780 SLC11A1 Nonsynonymous SNV A244V 0.003 0 0 0 3 0 0 0 0 0 0 0 35 271263 chr14 36147197 36147197 T C rs148266372 RALGAPA1 Nonsynonymous SNV E1481G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 271264 chr2 241463317 241463317 G A rs34267428 ANKMY1 Nonsynonymous SNV A287V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 271265 chr2 241463495 241463495 G A rs34088616 ANKMY1 Nonsynonymous SNV R228W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.1 271266 chr2 241508279 241508287 CGCCCCCGC - RNPEPL1 P94_A96del 0 0 0 1 0 0 0.003 0 0 0 0 0 271267 chr2 241508291 241508291 C T RNPEPL1 Synonymous SNV A96A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 271268 chr2 220500013 220500013 C T SLC4A3 Synonymous SNV Y616Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.554 271269 chr2 241722475 241722475 C T rs756136593 KIF1A Nonsynonymous SNV A284T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.5 271270 chr13 42179352 42179352 A G rs373526322 VWA8 Synonymous SNV A1646A 0.003 0 0 0 3 0 0 0 0 0 0 0 2.876 271271 chr2 241865187 241865187 G A rs771821742 CROCC2 Nonsynonymous SNV E179K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 271272 chr14 55852707 55852707 C T ATG14 Nonsynonymous SNV G173S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 271273 chr6 16307040 16307040 G C rs149604900 ATXN1 Synonymous SNV G656G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.638 271274 chr14 73718431 73718431 C T rs763873503 PAPLN Nonsynonymous SNV R244W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 271275 chr19 56733033 56733033 A G rs142259207 ZSCAN5A Nonsynonymous SNV Y351H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.29 271276 chr14 74427993 74427993 A G rs139010315 COQ6 Nonsynonymous SNV R337G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.361 271277 chr2 239169544 239169544 C T rs138121985 PER2 Synonymous SNV G489G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 271278 chr14 74971770 74971770 G A rs150484024 LTBP2 Nonsynonymous SNV R1429W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.9 271279 chr6 27326700 27326700 G A rs185374538 ZNF204P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.79 271280 chr14 76129543 76129543 G C rs369916219 TTLL5 Nonsynonymous SNV E17D 0.001 0.008 0 0 1 3 0 0 0 0 0 0 21.2 271281 chr2 39514075 39514075 C T MAP4K3 Nonsynonymous SNV G481D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 271282 chr2 242403355 242403355 G A rs576518715 FARP2 Nonsynonymous SNV R618Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 271283 chr6 37619963 37619963 C T rs369198415 MDGA1 Nonsynonymous SNV R379H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 271284 chr6 38980300 38980300 C T DNAH8 Nonsynonymous SNV S4317F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 271285 chr2 233398698 233398698 C T rs2229194 CHRND Nonsynonymous SNV P175S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.817 271286 chr14 21250196 21250196 A T rs79927643 RNASE6 Nonsynonymous SNV Q113L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.55 271287 chr19 6479058 6479058 G - DENND1C S19Afs*49 0.001 0 0 0 1 0 0 0 0 0 0 0 271288 chr14 94053165 94053165 T C rs138079281 UNC79 Synonymous SNV I981I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.965 271289 chr6 41751337 41751337 T C rs139498631 PRICKLE4 Synonymous SNV H42H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.013 271290 chr14 102606399 102606399 C G WDR20 Nonsynonymous SNV P47A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 271291 chr6 49426939 49426939 A G rs150841850 MMUT Synonymous SNV L81L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.678 271292 chr6 53387280 53387280 G A rs143809584 GCLC Nonsynonymous SNV R66W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 271293 chr2 42671091 42671091 T C rs773135917 KCNG3 Nonsynonymous SNV T432A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 271294 chr2 85823707 85823707 C T RNF181 Nonsynonymous SNV P51L 0 0 0 1 0 0 0.003 0 0 0 0 0 27 271295 chr14 105350783 105350783 G A rs753793628 CEP170B Nonsynonymous SNV R486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 271296 chr14 105353382 105353382 G C CEP170B Nonsynonymous SNV E866Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.956 271297 chr2 85981838 85981838 G C rs765432576 ATOH8 Nonsynonymous SNV E176Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.437 271298 chr6 56716391 56716391 G A rs766963921 DST Synonymous SNV N5N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 271299 chr14 105609331 105609331 G A rs772593683 JAG2 Nonsynonymous SNV R1102W 0.001 0 0 0 1 0 0 0 0 0 0 0 26 271300 chr6 69666675 69666675 G A rs373283258 ADGRB3 Nonsynonymous SNV R500K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 271301 chr6 70639460 70639460 A C rs145098172 COL19A1 Synonymous SNV I178I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.007 271302 chr2 48687269 48687269 A G rs771003630 PPP1R21 Synonymous SNV E192E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.49 271303 chr15 23892665 23892665 C T rs564216035 MAGEL2 Synonymous SNV P75P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.375 271304 chr2 27375575 27375575 G A rs144584247 TCF23 Nonsynonymous SNV R162H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 271305 chr2 54482754 54482755 CT - rs963456682 TSPYL6 R178Sfs*4 0.002 0 0 1 2 0 0.003 0 0 0 0 0 271306 chr2 98779418 98779418 G A rs77092382 VWA3B Nonsynonymous SNV D22N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.071 271307 chr2 98275449 98275449 C T rs142996046 ACTR1B Synonymous SNV T111T 0.003 0 0 2 4 0 0.005 0 0 0 0 0 15.98 271308 chr2 98852913 98852913 G A rs199694957 VWA3B Nonsynonymous SNV R487Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.014 271309 chr6 90395604 90395604 A T MDN1 Synonymous SNV L3887L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 271310 chr15 41797702 41797702 C T rs377126031 LTK Nonsynonymous SNV R445Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.88 271311 chr15 41862477 41862477 C T rs143186592 TYRO3 Synonymous SNV A429A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 271312 chr3 112328856 112328856 G C rs61732242 CCDC80 Synonymous SNV L798L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.122 271313 chr15 42054481 42054481 T C MGA Synonymous SNV S2346S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.081 271314 chr2 74709589 74709589 T C rs370481368 CCDC142 Nonsynonymous SNV S126G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.065 271315 chr14 70989811 70989811 C T rs139422733 ADAM20 Stop gain W555X 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 271316 chr2 84756240 84756240 G T DNAH6 Nonsynonymous SNV M204I 0.002 0 0 0 2 0 0 0 0 0 0 0 24 271317 chr14 75266120 75266120 C T rs766434155 YLPM1 Stop gain R1374X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 271318 chr15 52513389 52513389 G A rs760827754 MYO5C Nonsynonymous SNV R1231C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 271319 chr2 96689958 96689958 C G rs531152623 GPAT2 Synonymous SNV P534P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.88 271320 chr3 12533669 12533669 G A rs374735128 TSEN2 Nonsynonymous SNV R75H 0.003 0 0 1 4 0 0.003 0 0 0 0 0 33 271321 chr7 102098136 102098136 G A ALKBH4 Nonsynonymous SNV S205L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 271322 chr15 60297245 60297245 G A rs753207649 FOXB1 Nonsynonymous SNV S28N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.99 271323 chr3 130743767 130743767 G - ASTE1 K129Sfs*18 0 0 0 1 0 0 0.003 0 0 0 0 0 271324 chr3 101481364 101481364 A T CEP97 Nonsynonymous SNV K559I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 271325 chr3 133109055 133109057 GAA - rs766597719 TMEM108 K27del 0 0 0 1 0 0 0.003 0 0 0 0 0 271326 chr1 146747784 146747784 C T rs201774051 CHD1L Nonsynonymous SNV R264W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 271327 chr7 120428739 120428739 T C rs137971071 TSPAN12 Synonymous SNV S275S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.579 271328 chr7 122635158 122635158 C T rs752003332 TAS2R16 Synonymous SNV Q177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.423 271329 chr1 151384869 151384869 T C rs775008105 POGZ Nonsynonymous SNV K466R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 271330 chr3 134323053 134323053 C T rs766435024 KY Nonsynonymous SNV V436M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 271331 chr7 133884080 133884080 C T rs150378173 LRGUK Nonsynonymous SNV R552C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 271332 chr15 77907930 77907930 C T rs113096707 LINGO1 Nonsynonymous SNV V107M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 271333 chr15 83456037 83456037 A C FSD2 Nonsynonymous SNV F36V 0.001 0 0 0 1 0 0 0 0 0 0 0 15 271334 chr14 105962354 105962354 G A rs587726014 TEDC1 Synonymous SNV P274P 0.005 0.003 0 0 6 1 0 0 0 0 0 0 5.506 271335 chr7 139762442 139762442 G A rs368045388 PARP12 Nonsynonymous SNV A69V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 271336 chr15 22990123 22990123 C G CYFIP1 Nonsynonymous SNV Q484E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 271337 chr3 155303898 155303898 G A rs149928409 PLCH1 Synonymous SNV L174L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 271338 chr7 140111787 140111787 C T rs61995740 RAB19 Synonymous SNV F105F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 271339 chr7 140710396 140710396 C T rs61740816 MRPS33 Nonsynonymous SNV R13H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 271340 chr3 12626043 12626043 C T rs151027203 RAF1 Synonymous SNV L525L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.568 271341 chr7 141619042 141619042 T C rs79737608 OR9A4 Nonsynonymous SNV Y123H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 271342 chr7 141857858 141857858 G A rs79881851 MGAM2 Nonsynonymous SNV R682Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.002 271343 chr7 142650996 142650996 G A rs8175995 KEL Synonymous SNV F324F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.87 271344 chr7 142723690 142723690 C T rs150207251 OR9A2 Nonsynonymous SNV R177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 271345 chr7 143079361 143079361 C T rs143893236 ZYX Nonsynonymous SNV P77S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.383 271346 chr3 169497125 169497125 G A rs186909924 MYNN Nonsynonymous SNV S279N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.89 271347 chr3 132229997 132229997 G A rs765144663 DNAJC13 Synonymous SNV A1734A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.92 271348 chr1 159033406 159033406 T C rs761685221 AIM2 Nonsynonymous SNV E187G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 271349 chr3 133098627 133098627 G A rs139376732 TMEM108 Synonymous SNV A24A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.83 271350 chr15 90348653 90348653 T A ANPEP Nonsynonymous SNV K219M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 271351 chr1 161090020 161090020 G C NIT1 Nonsynonymous SNV E224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 271352 chr15 91428773 91428773 C T rs372866909 FES Synonymous SNV T115T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 271353 chr15 52902349 52902349 A G rs375471994 FAM214A Synonymous SNV N261N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.075 271354 chr7 23236317 23236317 T G NUP42 Nonsynonymous SNV L181V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 271355 chr3 160958906 160958906 C T rs754862883 NMD3 Stop gain R276X 0.003 0 0 0 3 0 0 0 0 0 0 0 43 271356 chr7 2740157 2740157 T G rs748124302 AMZ1 Synonymous SNV T24T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.732 271357 chr3 170078604 170078609 AAAAGA - SKIL E162_R164delinsG 0.002 0 0 0 2 0 0 0 0 0 0 0 271358 chr16 692198 692198 C T rs11551691 MCRIP2 Nonsynonymous SNV P44L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.911 271359 chr16 711436 711436 - C WDR90 Frameshift insertion H1205Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 271360 chr16 765593 765593 C T METRN Synonymous SNV T38T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.464 271361 chr3 183543075 183543075 C G MAP6D1 Synonymous SNV P87P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.41 271362 chr7 36934614 36934614 C A ELMO1 Nonsynonymous SNV Q2H 0 0 0.007 0 0 0 0 2 0 0 0 0 23 271363 chr7 37382282 37382282 C T rs146510671 ELMO1 Nonsynonymous SNV A5T 0 0 0.007 0 0 0 0 2 0 0 0 0 22 271364 chr7 38259194 38259194 G A rs376265781 STARD3NL Synonymous SNV E176E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 271365 chr3 38318442 38318442 C T rs141873455 SLC22A13 Synonymous SNV I462I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 271366 chr3 184040994 184040994 A C EIF4G1 Synonymous SNV R489R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.641 271367 chr16 2110766 2110766 G A rs776395163 TSC2 Synonymous SNV A157A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.489 271368 chr3 185986591 185986591 G A rs372904433 DGKG Nonsynonymous SNV T372M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 271369 chr1 183086486 183086486 T G rs61752348 LAMC1 Nonsynonymous SNV D532E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.797 271370 chr16 2086452 2086452 C T rs374997543 SLC9A3R2 Nonsynonymous SNV P70L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.9 271371 chr7 45124427 45124427 G A NACAD Nonsynonymous SNV T451I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 271372 chr3 191178962 191178962 C A rs200336389 PYDC2 Nonsynonymous SNV S4Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 14.53 271373 chr3 191178963 191178963 T G rs201291805 PYDC2 Synonymous SNV S4S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.924 271374 chr3 192988413 192988413 C T rs111588633 PLAAT1 Synonymous SNV T142T 0.002 0 0 0 2 0 0 0 0 0 0 0 18.9 271375 chr7 47927709 47927709 G A PKD1L1 Synonymous SNV F905F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 271376 chr3 43740774 43740774 A G ABHD5 Synonymous SNV G18G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.345 271377 chr3 44948656 44948656 C T rs145801637 TGM4 Nonsynonymous SNV R431W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 271378 chr1 197326047 197326047 T G rs533227950 CRB1 Nonsynonymous SNV S247A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.021 271379 chr3 197401910 197401910 G A rs202195282 RUBCN Synonymous SNV A966A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.02 271380 chr3 4715069 4715069 C T rs369671510 ITPR1 Synonymous SNV D803D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.82 271381 chr3 48302408 48302408 C G ZNF589 Nonsynonymous SNV L68V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.28 271382 chr16 18995425 18995425 C T rs980844461 TMC7 Nonsynonymous SNV P14S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 271383 chr16 19548127 19548127 G A rs146335974 CCP110 Nonsynonymous SNV R379H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 271384 chr3 51969453 51969453 C G rs534249993 RRP9 Nonsynonymous SNV L292F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 271385 chr3 5216079 5216079 G C ARL8B Nonsynonymous SNV C164S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 271386 chr3 52387600 52387600 G A rs571987789 DNAH1 Nonsynonymous SNV S1144N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.12 271387 chr3 52387601 52387601 C T rs534534857 DNAH1 Synonymous SNV S1144S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.58 271388 chr7 89891331 89891331 G A rs151205971 CFAP69 Nonsynonymous SNV R106H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.017 271389 chr7 89917577 89917577 C T rs188534119 CFAP69 Synonymous SNV I562I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.01 271390 chr3 52852131 52852131 G A rs145279742 ITIH4 Nonsynonymous SNV R715W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 23.2 271391 chr7 93346279 93346279 G C rs147623472 MIR4652 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 271392 chr16 25703795 25703795 G A rs147594679 HS3ST4 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 271393 chr16 29676015 29676015 C T rs766361507 SPN Synonymous SNV S322S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 271394 chr3 61989028 61989028 A G rs140777402 PTPRG Nonsynonymous SNV I126V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.13 271395 chr7 99693014 99693014 T C MCM7 Nonsynonymous SNV M383V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 271396 chr16 29996800 29996800 G T TAOK2 Nonsynonymous SNV K563N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 271397 chr3 85008776 85008776 C A CADM2 Nonsynonymous SNV S6R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.13 271398 chr16 52107763 52107763 G A rs971781901 C16orf97 Nonsynonymous SNV P12S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.632 271399 chr3 98216557 98216557 G A OR5K2 Synonymous SNV E11E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.099 271400 chr8 11831450 11831450 T G rs752206698 DEFB136 Nonsynonymous SNV H78P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 271401 chr16 57600611 57600611 A T ADGRG5 Nonsynonymous SNV H216L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 271402 chr4 113362252 113362252 G A rs752318650 ALPK1 Nonsynonymous SNV E1162K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 271403 chr4 114158192 114158192 C T rs901601971 ANK2 Nonsynonymous SNV A178V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.1 271404 chr3 53274311 53274311 G A rs11556002 TKT Synonymous SNV A131A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.34 271405 chr1 228612822 228612822 G A rs143341207 H3-4 Stop gain Q69X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 271406 chr16 75674122 75674122 C G rs771600946 KARS1 Nonsynonymous SNV Q116H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 271407 chr1 228698299 228698299 G A rs538019798 BTNL10 Nonsynonymous SNV P130S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.634 271408 chr16 77242434 77242434 C T SYCE1L Nonsynonymous SNV S85F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 271409 chr8 144688761 144688761 C T rs760605838 PYCR3 Nonsynonymous SNV R122H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.93 271410 chr4 123258062 123258062 G A rs779806137 KIAA1109 Nonsynonymous SNV G4013R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 271411 chr4 128938656 128938656 C T rs200952665 ABHD18 Synonymous SNV H76H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 271412 chr4 140272669 140272669 T C rs373488592 NAA15 Synonymous SNV F306F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.624 271413 chr4 148559756 148559756 A G rs748662468 PRMT9 Nonsynonymous SNV V517A 0 0 0 1 0 0 0.003 0 0 0 0 0 33 271414 chr16 85689972 85689972 - GCGGGAGAGGGAGCGCGA rs781059196 GSE1 E248_A249insRERERE 0.001 0 0 0 1 0 0 0 0 0 0 0 271415 chr16 87339375 87339375 G A rs768488735 C16orf95 Nonsynonymous SNV S156L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 271416 chr1 24069958 24069958 C G rs556867091 ELOA Nonsynonymous SNV P15A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.085 271417 chr8 21958401 21958401 G A rs200904684 FAM160B2 Nonsynonymous SNV G511S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.727 271418 chr16 88923208 88923208 G T GALNS Synonymous SNV G26G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 271419 chr8 22481554 22481554 C T rs199588752 BIN3 Synonymous SNV E115E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.9 271420 chr16 89761439 89761439 G A rs376865715 CDK10 Nonsynonymous SNV R227H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 271421 chr17 263306 263306 C T rs111797689 C17orf97 Synonymous SNV G224G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.843 271422 chr17 263313 263313 C A rs112883765 C17orf97 Nonsynonymous SNV P227T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 271423 chr17 263315 263315 C T rs71356792 C17orf97 Synonymous SNV P227P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 271424 chr17 263352 263352 G A rs199591690 C17orf97 Nonsynonymous SNV E240K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.73 271425 chr4 184240799 184240799 G A rs758374149 CLDN22 Synonymous SNV H191H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.169 271426 chr4 123270409 123270409 A G rs755171347 KIAA1109 Synonymous SNV Q4459Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.156 271427 chr17 1840531 1840531 G T rs888902144 RTN4RL1 Synonymous SNV G195G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.021 271428 chr17 1946073 1946073 A C rs936566545 OVCA2 Nonsynonymous SNV Q120P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 271429 chr17 4436589 4436589 G A rs200103064 SPNS2 Synonymous SNV T380T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 271430 chr8 38808487 38808487 G C rs746593277 PLEKHA2 Synonymous SNV V155V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 271431 chr1 26369938 26369938 C T rs779896941 SLC30A2 Nonsynonymous SNV G126R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 271432 chr8 41575628 41575628 G A ANK1 Nonsynonymous SNV T401I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 271433 chr4 144471209 144471209 A G SMARCA5 Synonymous SNV L1015L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 271434 chr4 189012697 189012697 A T rs201963561 TRIML2 Nonsynonymous SNV S407T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.8 271435 chr4 145658944 145658944 A G HHIP Synonymous SNV G646G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.725 271436 chr4 147724819 147724819 A T TTC29 Nonsynonymous SNV S374T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.11 271437 chr4 147788699 147788699 T A TTC29 Nonsynonymous SNV Y279F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.08 271438 chr8 56015521 56015521 C T rs780172770 XKR4 Nonsynonymous SNV S158L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 271439 chr8 56363434 56363434 C A SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.801 271440 chr4 151829952 151829952 A G rs190586278 LRBA Synonymous SNV L407L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 3.04 271441 chr4 152593980 152593980 T A rs141777418 GATB Nonsynonymous SNV E493D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.24 271442 chr16 68371390 68371390 C A rs72792215 PRMT7 Synonymous SNV I90I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 22.5 271443 chr4 120193133 120193133 C T rs374997566 USP53 Synonymous SNV I655I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.57 271444 chr17 4845955 4845955 T C rs140084318 RNF167 Synonymous SNV N90N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 271445 chr1 32937081 32937081 C G rs188525493 ZBTB8B Nonsynonymous SNV R286G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 271446 chr4 159630926 159630926 C G PPID Nonsynonymous SNV D359H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 271447 chr3 111782472 111782472 G A TMPRSS7 Synonymous SNV L390L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.179 271448 chr4 169799391 169799391 C T PALLD Nonsynonymous SNV L117F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.318 271449 chr9 100126342 100126342 G A rs891195030 CCDC180 Synonymous SNV P1348P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.331 271450 chr4 55970963 55970963 A G rs77722107 KDR Synonymous SNV L612L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 2.412 271451 chr17 8296150 8296150 C - RNF222 W212Gfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 271452 chr4 57220270 57220270 A G rs769993209 AASDH Synonymous SNV L340L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.456 271453 chr1 43783343 43783343 G A rs199863447 TIE1 Nonsynonymous SNV R865Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 271454 chr1 43917084 43917084 G A rs777421985 HYI Stop gain R253X 0.002 0 0 0 2 0 0 0 0 0 0 0 42 271455 chr9 111754924 111754924 T A rs371380715 CTNNAL1 Synonymous SNV T169T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.16 271456 chr4 62383102 62383102 G A rs771544117 ADGRL3 Nonsynonymous SNV G42D 0 0 0 1 0 0 0.003 0 0 0 0 0 18 271457 chr9 115626535 115626535 G A rs373213453 SNX30 Synonymous SNV A370A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.093 271458 chr9 115651856 115651856 T C rs369095004 SLC46A2 Nonsynonymous SNV K369R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 271459 chr17 17907714 17907714 A G rs141917632 DRC3 Nonsynonymous SNV N346S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 271460 chr17 18193924 18193924 G A rs747211857 TOP3A Nonsynonymous SNV P420L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 271461 chr4 25836878 25836878 G T rs80213160 SEL1L3 Nonsynonymous SNV F232L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.154 271462 chr3 124462778 124462778 A G rs17843847 UMPS Synonymous SNV Q430Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.612 271463 chr9 119129991 119129991 C T rs377671735 PAPPA Synonymous SNV T1521T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.82 271464 chr1 54606998 54606998 C A rs757715498 CDCP2 Nonsynonymous SNV G179V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.42 271465 chr1 59042179 59042179 A C TACSTD2 Nonsynonymous SNV V217G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 271466 chr4 39267748 39267748 T C rs371128500 WDR19 Synonymous SNV D923D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.014 271467 chr17 26370115 26370115 T G rs369125573 NLK Synonymous SNV A72A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.782 271468 chr17 26890484 26890484 A G rs372383165 PIGS Nonsynonymous SNV Y145H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 271469 chr17 28618342 28618342 G A rs373607429 BLMH Synonymous SNV N66N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 271470 chr9 130549811 130549811 C A rs34238383 CDK9 Synonymous SNV A63A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.11 271471 chr17 33463428 33463428 A G NLE1 Nonsynonymous SNV F14S 0.002 0 0 0 2 0 0 0 0 0 0 0 31 271472 chr17 3119744 3119744 C T rs61737301 OR1A1 Nonsynonymous SNV T277M 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 Benign 13.19 271473 chr4 5743491 5743493 AAG - EVC K252del 0.001 0 0 0 1 0 0 0 0 0 0 0 271474 chr4 5754776 5754776 C T rs754239541 EVC Nonsynonymous SNV R438W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 271475 chr17 3867496 3867496 G T ATP2A3 Synonymous SNV T30T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.35 271476 chr3 142430755 142430755 A G rs772376016 PLS1 Nonsynonymous SNV Y599C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 271477 chr5 109941885 109941885 T C rs776789106 TMEM232 Nonsynonymous SNV I336V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.165 271478 chr17 37949134 37949134 T C rs116815485 IKZF3 Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.862 271479 chr9 136227236 136227236 C T rs143679153 SURF2 Nonsynonymous SNV P205S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.783 271480 chr5 115394625 115394625 C T rs762817608 ARL14EPL Nonsynonymous SNV P147L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.9 271481 chr1 86847934 86847934 T C rs756157423 ODF2L Synonymous SNV E74E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.063 271482 chr5 118533494 118533494 C G rs780861883 DMXL1 Nonsynonymous SNV L2530V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 271483 chr1 86921043 86921043 C - rs768413031 CLCA2 N891Ifs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 271484 chr9 137711794 137711794 C T rs145741439 LOC101448202 0 0 0.003 0 0 0 0 1 0 0 0 0 5.182 271485 chr4 7716062 7716062 G A rs200959630 SORCS2 Synonymous SNV T695T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.994 271486 chr5 135272607 135272607 C G FBXL21P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.59 271487 chr17 39959546 39959546 G A rs139476472 P3H4 Synonymous SNV A428A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 271488 chr9 140387481 140387481 C G rs759779897 PNPLA7 Nonsynonymous SNV Q702H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 271489 chr9 14792848 14792848 G A rs199806592 FREM1 Nonsynonymous SNV R1292C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 27.5 271490 chr17 40828463 40828468 TCCTCG - rs774552652 PLEKHH3 D38_E39del 0.001 0 0 0 1 0 0 0 0 0 0 0 271491 chr17 41113243 41113243 C T rs146996084 AARSD1, PTGES3L-AARSD1 Stop gain W99X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 271492 chr20 13752075 13752075 A G ESF1 Synonymous SNV Y435Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.216 271493 chr20 1559135 1559135 T G rs145689140 SIRPB1 Nonsynonymous SNV E94D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 271494 chr9 35101209 35101209 T C rs770556916 STOML2 Nonsynonymous SNV N171S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 271495 chr17 18028540 18028540 A C rs755138984 MYO15A Nonsynonymous SNV I1251L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.7 271496 chr17 18151129 18151129 T G rs765905665 FLII Nonsynonymous SNV I722L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 271497 chr5 102444339 102444339 G T rs782554467 GIN1 Nonsynonymous SNV H25N 0.003 0 0 0 3 0 0 0 1 0 0 0 19.51 271498 chr5 10442326 10442326 C T rs762533473 ROPN1L Nonsynonymous SNV P16L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 271499 chr17 56060281 56060281 A G rs201537599 VEZF1 Synonymous SNV P169P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.307 271500 chr5 150496734 150496734 C T rs372396908 ANXA6 Nonsynonymous SNV R477H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 271501 chr17 57232340 57232340 G A rs765338616 SKA2 Synonymous SNV T35T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 271502 chr5 125805420 125805420 T C rs765999173 GRAMD2B Synonymous SNV C100C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.109 271503 chr5 127611847 127611847 C T rs779483120 FBN2 Nonsynonymous SNV D2493N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.6 271504 chr17 60111182 60111182 T C MED13 Synonymous SNV E260E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.563 271505 chr17 29676139 29676139 G A rs773474652 NF1 Synonymous SNV G2376G 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.551 271506 chr20 39987404 39987404 - GTGGCCC LPIN3 Frameshift insertion S825Wfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 271507 chr17 31618591 31618591 G C rs779782155 ASIC2 Synonymous SNV R181R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.97 271508 chr5 102894934 102894934 T C NUDT12 Nonsynonymous SNV T130A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 271509 chrX 100749125 100749125 G A rs782153582 ARMCX4 Nonsynonymous SNV G1850E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 271510 chr5 137419967 137419967 C T WNT8A Nonsynonymous SNV P51S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 271511 chr17 33495290 33495290 C T rs781511383 UNC45B Synonymous SNV R454R 0.003 0 0 0 3 0 0 0 0 0 0 0 12.41 271512 chr17 71199142 71199142 T C COG1 Synonymous SNV L693L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.651 271513 chr17 72860346 72860346 C T rs948669536 FDXR Nonsynonymous SNV R269Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 271514 chr20 44523526 44523526 C T rs368697828 CTSA Nonsynonymous SNV R313W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 271515 chr17 72945378 72945378 T C rs145816807 OTOP3 Nonsynonymous SNV F535S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 271516 chr17 36478424 36478426 AGA - rs759708379 MRPL45 E242del 0.003 0 0 0 3 0 0 0 0 0 0 0 271517 chr20 45355544 45355544 C T rs370547023 SLC2A10 Stop gain R444X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 38 271518 chr5 140712353 140712353 C T PCDHGA1 Nonsynonymous SNV S701F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 271519 chr5 176949030 176949030 A G rs758519827 FAM193B Synonymous SNV A805A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.853 271520 chr17 74093957 74093957 G T rs199648542 EXOC7 Nonsynonymous SNV T146N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.663 271521 chr5 177642384 177642384 A T rs975134866 PHYKPL Nonsynonymous SNV N284K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.81 271522 chr20 52198760 52198760 G A rs531073266 ZNF217 Synonymous SNV V202V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.844 271523 chr3 47452286 47452286 T - PTPN23 Y874Mfs*160 0.001 0 0 0 1 0 0 0 0 0 0 0 271524 chrX 146312574 146312574 A G MIR507 0 0 0.003 0 0 0 0 1 0 0 0 0 4.724 271525 chr5 179299947 179299947 A C TBC1D9B Nonsynonymous SNV F787C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 271526 chr17 39412093 39412093 C T rs368292401 KRTAP9-9 Synonymous SNV T152T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.53 271527 chr17 76083097 76083097 C T TNRC6C Nonsynonymous SNV P1239L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 271528 chr17 76115464 76115464 G A rs765699601 TMC6 Synonymous SNV S575S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 271529 chrX 153174539 153174539 G A rs781978537 ARHGAP4 Synonymous SNV H864H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.349 271530 chr17 76456029 76456029 C T rs749275299 DNAH17 Nonsynonymous SNV V3164I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 271531 chrX 153578066 153578066 G A FLNA Synonymous SNV Y2493Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.541 271532 chr17 76802280 76802280 G C rs150924360 USP36 Nonsynonymous SNV S725C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 271533 chr20 60503345 60503345 C T rs753159244 CDH4 Synonymous SNV C586C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.017 271534 chr17 76799844 76799844 C T rs760711915 USP36 Synonymous SNV K811K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 271535 chrX 23018994 23018994 T C DDX53 Synonymous SNV L274L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 271536 chr17 78268715 78268715 C T rs146798784 RNF213 Synonymous SNV F556F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 16.22 271537 chr20 61940698 61940698 C T rs775700248 COL20A1 Synonymous SNV A318A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 271538 chr17 78313883 78313883 C T rs376888661 RNF213 Nonsynonymous SNV R1906C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 271539 chr3 58117710 58117710 T C rs142631042 FLNB Nonsynonymous SNV F1483L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Uncertain significance 23.8 271540 chr17 78354756 78354756 C T rs61747138 RNF213 Nonsynonymous SNV A4589V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 271541 chr17 78449938 78449938 C T rs201541109 NPTX1 Synonymous SNV R103R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.61 271542 chr17 78599565 78599565 G A rs142696864 RPTOR Synonymous SNV T79T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 271543 chrX 47519504 47519504 - CCTTCCTTCCTTCCTTCCTT UXT-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 271544 chr5 50130848 50130848 G A rs199555717 PARP8 Nonsynonymous SNV V779I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 271545 chrX 50052062 50052062 A G rs138975401 CCNB3 Nonsynonymous SNV H298R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 271546 chr20 62369809 62369809 A C LIME1 Nonsynonymous SNV Q181P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 271547 chr17 79898800 79898800 G T rs372698458 MYADML2 Nonsynonymous SNV P273H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 271548 chrX 67943490 67943490 G A rs776342172 STARD8 Nonsynonymous SNV R861Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.4 271549 chr17 44068890 44068890 A C rs568067396 MAPT Nonsynonymous SNV Q107P 0.003 0 0 0 3 0 0 0 1 0 0 0 7.067 271550 chr5 167630764 167630764 G A TENM2 Synonymous SNV Q935Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.1 271551 chr17 80386455 80386455 C T HEXD Synonymous SNV I72I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 271552 chrX 77913478 77913478 G A rs752633678 RTL3 Nonsynonymous SNV A147V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.111 271553 chr18 3452215 3452215 - C rs557930227 TGIF1 Frameshift insertion P83Sfs*61 0.002 0 0 0 2 0 0 0 0 0 0 0 271554 chr5 68485481 68485481 T G rs375193070 CENPH Nonsynonymous SNV M7R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.525 271555 chr17 48560833 48560833 T C rs141346139 RSAD1 Nonsynonymous SNV L346P 0.004 0 0 0 5 0 0 0 0 0 0 0 25.9 271556 chr10 103906747 103906747 C T rs998057343 PPRC1 Nonsynonymous SNV P1213L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 271557 chr18 12673501 12673504 ATCT - rs762909227 CEP76 P541Ffs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 271558 chr5 179762852 179762852 G C GFPT2 Nonsynonymous SNV P106A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 271559 chr18 23731897 23731897 A G rs150332181 PSMA8 Nonsynonymous SNV D102G 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 271560 chr5 82834631 82834631 G A rs756870122 VCAN Nonsynonymous SNV D950N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 33 271561 chr5 79744001 79744001 A G rs558476608 ZFYVE16 Nonsynonymous SNV T961A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.473 271562 chr5 90667273 90667273 T C rs763354083 ARRDC3 Nonsynonymous SNV I177V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.125 271563 chr10 120789674 120789674 C T NANOS1 Nonsynonymous SNV R121C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 271564 chr5 96222447 96222447 T - rs751139035 ERAP2 C269Vfs*6 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 271565 chr10 124345690 124345690 C T rs773273957 DMBT1 Nonsynonymous SNV T515I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.519 271566 chr18 47480805 47480805 C T MYO5B Nonsynonymous SNV V516I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.4 271567 chr18 48513277 48513277 G A rs371639199 ELAC1 Nonsynonymous SNV R305H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 271568 chr18 48723242 48723242 G C rs149809554 MEX3C Nonsynonymous SNV T150S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.962 271569 chr18 56202919 56202919 G A rs182616206 ALPK2 Synonymous SNV G1500G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.586 271570 chr6 107391152 107391152 G T BEND3 Nonsynonymous SNV L415I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 271571 chr17 73623542 73623542 C T rs201830334 RECQL5 Nonsynonymous SNV S979N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.3 271572 chr6 109767545 109767545 G A MICAL1 Nonsynonymous SNV A706V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.121 271573 chr22 19918615 19918615 T A rs148092370 TXNRD2 Nonsynonymous SNV Q37L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.579 271574 chr22 20760157 20760157 C T ZNF74 Synonymous SNV C207C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 271575 chr18 61569645 61569645 G A rs6100 SERPINB2 Nonsynonymous SNV R229H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.798 271576 chr18 67855434 67855434 A G rs200114964 RTTN Synonymous SNV V405V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.801 271577 chr18 65180073 65180073 T C DSEL Synonymous SNV E591E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.45 271578 chr10 20453480 20453480 G T rs767193354 PLXDC2 Nonsynonymous SNV R240S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 271579 chr6 131277448 131277448 G A rs139295986 EPB41L2 Nonsynonymous SNV R60C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 31 271580 chr6 132645179 132645179 - C MOXD1 Frameshift insertion D335Gfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 271581 chr6 132645182 132645182 - TGTGTAAA MOXD1 Frameshift insertion Y334Ffs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 271582 chr6 132645185 132645185 T A MOXD1 Nonsynonymous SNV K333I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 271583 chr6 132645186 132645186 T A MOXD1 Stop gain K333X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 271584 chr18 72515945 72515945 G A rs200042357 ZNF407 Nonsynonymous SNV G1635R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.268 271585 chr6 132693813 132693816 TTTG - MOXD1 N198Kfs*21 0.002 0 0 1 2 0 0.003 0 0 0 0 0 271586 chr5 50058999 50058999 A C PARP8 Nonsynonymous SNV E147D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.744 271587 chr5 79031127 79031127 C T rs757070351 CMYA5 Nonsynonymous SNV S2180L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 271588 chr6 136882686 136882686 T G MAP3K5 Nonsynonymous SNV E1324D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.83 271589 chr19 846252 846252 C T rs145794662 PRTN3 Nonsynonymous SNV R159C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 271590 chr22 30921652 30921652 C T rs200755426 SEC14L6 Nonsynonymous SNV R286H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 271591 chr5 83360665 83360665 T G EDIL3 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 271592 chr6 146007341 146007341 C T rs61758155 EPM2A Synonymous SNV E131E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 13.48 271593 chr22 35719072 35719072 G A rs367816016 TOM1 Nonsynonymous SNV A57T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 271594 chr22 36155978 36155978 C A rs757775003 RBFOX2 Nonsynonymous SNV A285S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 271595 chr19 1917812 1917812 C G rs763139221 SCAMP4 Nonsynonymous SNV L43V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 271596 chr22 37407170 37407170 G A rs142340242 TST Synonymous SNV C264C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.22 271597 chr5 74400267 74400267 T C ANKRD31 Nonsynonymous SNV H1649R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.182 271598 chr19 3207665 3207665 C T rs11551094 NCLN Synonymous SNV L556L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 271599 chr6 10926588 10926588 C T rs148872372 SYCP2L Nonsynonymous SNV T412M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.73 271600 chr6 111543268 111543268 C T SLC16A10 Nonsynonymous SNV L460F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 271601 chr19 4328715 4328715 C T rs375801724 STAP2 Nonsynonymous SNV G183S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 271602 chr19 5711910 5711910 C T rs149169865 LONP1 Nonsynonymous SNV D52N 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Uncertain significance 16.08 271603 chr19 5923269 5923269 C T RANBP3 Nonsynonymous SNV R309Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 271604 chr10 7605263 7605263 A G rs61731872 ITIH5 Nonsynonymous SNV V657A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 271605 chr6 25619728 25619728 C T rs192384666 CARMIL1 Nonsynonymous SNV R1339W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 271606 chr10 79601916 79601916 G A rs139182289 DLG5 Nonsynonymous SNV T387M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 271607 chr22 50304250 50304250 C T rs121907933 ALG12 Nonsynonymous SNV G101R 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 27.2 271608 chr22 50355443 50355443 C G rs746022257 PIM3 Synonymous SNV V200V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.205 271609 chr18 47329196 47329196 G A rs777732630 ACAA2 Nonsynonymous SNV T15M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 271610 chr19 7987533 7987533 G A rs146782841 SNAPC2 Nonsynonymous SNV E297K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.25 271611 chr10 90572919 90572919 C G rs750131365 LIPM Nonsynonymous SNV L111V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 271612 chr10 98808730 98808730 T C SLIT1 Nonsynonymous SNV K483E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 271613 chr6 34803170 34803170 G A rs201149774 UHRF1BP1 Nonsynonymous SNV A257T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 271614 chr6 35047615 35047615 G A ANKS1A Synonymous SNV L818L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.81 271615 chr6 35260800 35260800 C T ZNF76 Synonymous SNV I436I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.46 271616 chr6 35285719 35285719 A C rs61734579 DEF6 Nonsynonymous SNV N287H 0.003 0.008 0 1 3 3 0.003 0 0 0 0 0 23.6 271617 chr2 10942641 10942641 C T rs771820742 PDIA6 Nonsynonymous SNV E49K 0.003 0 0 0 3 0 0 0 0 0 0 0 35 271618 chr6 152603014 152603014 C T rs759825628 SYNE1 Synonymous SNV K6032K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 16.95 271619 chr19 9020795 9020795 A G rs747036031 MUC16 Nonsynonymous SNV L12436P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 271620 chr18 76829448 76829448 C G ATP9B Nonsynonymous SNV A13G 0.002 0 0 0 2 0 0 0 0 0 0 0 18.04 271621 chr18 77464868 77464868 G A CTDP1 Synonymous SNV E122E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.08 271622 chr6 38813391 38813391 C A DNAH8 Synonymous SNV A1412A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.44 271623 chr6 158449998 158449998 T C SYNJ2 Nonsynonymous SNV L142P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 271624 chr2 11738081 11738081 C T rs150926971 GREB1 Nonsynonymous SNV T710I 0.001 0 0 0 1 0 0 0 0 0 0 0 29 271625 chr19 9204621 9204621 G A rs758830302 OR1M1 Nonsynonymous SNV R234K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 271626 chr19 920504 920504 T G KISS1R Nonsynonymous SNV L318R 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 271627 chr6 44278810 44278810 T G rs772630843 AARS2 Nonsynonymous SNV I224L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 271628 chr11 107920643 107920643 G A rs372279778 CUL5 Synonymous SNV T87T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 271629 chr11 108127067 108127067 G A rs1137887 ATM Synonymous SNV K750K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Pathogenic/Likely pathogenic 18.21 271630 chr2 136664893 136664893 G T DARS1 Nonsynonymous SNV T400N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 271631 chr11 109294864 109294864 C T rs144669229 C11orf87 Nonsynonymous SNV P169S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 271632 chr19 13063800 13063800 G A rs374205508 RAD23A Synonymous SNV A288A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 271633 chr6 46424531 46424531 C T rs143988064 RCAN2 Synonymous SNV A61A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.88 271634 chr6 46660723 46660723 A G rs202040626 TDRD6 Nonsynonymous SNV I1620V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 271635 chr2 152507384 152507384 C T rs757526825 NEB Nonsynonymous SNV G2311S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 271636 chr19 12881975 12881975 G A rs763918658 HOOK2 Synonymous SNV F253F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.551 271637 chr6 26240655 26240655 T C rs766040224 H4C6 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 271638 chr19 14079427 14079427 G A rs543467989 RFX1 Nonsynonymous SNV T561M 0.002 0 0 0 2 0 0 0 0 0 0 0 19.35 271639 chr19 14938320 14938320 A C rs201863024 OR7A5 Nonsynonymous SNV L245R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 271640 chr2 167266218 167266218 C T rs35864629 SCN7A Synonymous SNV A1313A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.7 271641 chr19 15072870 15072870 C T rs142341165 SLC1A6 Synonymous SNV R293R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.28 271642 chr11 123596985 123596985 C T rs373732491 ZNF202 Nonsynonymous SNV R332Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 271643 chr6 7398935 7398935 C T rs764939182 RIOK1 Nonsynonymous SNV R44C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 271644 chr19 15234210 15234210 C T rs748970581 ILVBL Nonsynonymous SNV A105T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 271645 chr6 7581158 7581158 C T rs755868373 DSP Nonsynonymous SNV R1579W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 15.38 271646 chr2 178095740 178095740 G T rs762320240 NFE2L2 Nonsynonymous SNV H501N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 271647 chr19 17653046 17653046 G A rs375779762 NIBAN3 Synonymous SNV P181P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.15 271648 chr19 21713458 21713458 G A rs368173545 ZNF429 Synonymous SNV K2K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.326 271649 chr11 128396680 128396680 G T rs4936052 ETS1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.85 271650 chr11 17552794 17552794 G A rs34055234 USH1C Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.479 271651 chr11 17757621 17757621 G A rs76929858 KCNC1 Synonymous SNV S24S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.5 271652 chr2 186658914 186658914 T A FSIP2 Nonsynonymous SNV Y2351N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 271653 chr2 186661602 186661602 A G rs142306380 FSIP2 Nonsynonymous SNV R3247G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 271654 chr6 55922559 55922559 G A rs753645403 COL21A1 Nonsynonymous SNV P322S 0.004 0 0 0 5 0 0 0 0 0 0 0 22.2 271655 chr19 9020072 9020072 G A rs566860711 MUC16 Nonsynonymous SNV R12475W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 271656 chr11 2683134 2683134 C T KCNQ1OT1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.694 271657 chr6 72011296 72011296 C G rs765501956 OGFRL1 Synonymous SNV A301A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.04 271658 chr7 100842036 100842036 C T rs145975332 MOGAT3 Nonsynonymous SNV G122S 0 0 0 1 0 0 0.003 0 0 0 0 0 24 271659 chr6 74533180 74533180 A G rs201392120 CD109 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 271660 chr7 107704399 107704399 G T rs767544532 LAMB4 Nonsynonymous SNV F956L 0.003 0 0 2 3 0 0.005 0 0 0 0 0 24.4 271661 chr11 4076828 4076828 C T rs144602692 STIM1 Nonsynonymous SNV T153I 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 24.4 271662 chr6 87970706 87970706 G A rs199609664 ZNF292 Synonymous SNV T2453T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.138 271663 chr11 47307993 47307993 A G rs775676665 MADD Nonsynonymous SNV Y811C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 271664 chr7 127254551 127254551 G A rs2233578 PAX4 Nonsynonymous SNV R141W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 26.9 271665 chr6 99849044 99849044 G C rs148531303 PNISR Nonsynonymous SNV S579C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.3 271666 chr7 128478415 128478415 G A rs776469396 FLNC Nonsynonymous SNV R381H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 23.3 271667 chr19 16436506 16436506 C T rs1004068911 KLF2 Synonymous SNV P185P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.07 271668 chr19 17001129 17001129 C T rs866506376 F2RL3 Synonymous SNV T285T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.297 271669 chr19 46289239 46289239 C T rs201267914 DMWD Synonymous SNV A505A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.386 271670 chr19 17558974 17558974 C T rs535469448 TMEM221 Nonsynonymous SNV A100T 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 271671 chr19 48244681 48244681 G A EHD2 Nonsynonymous SNV A542T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 271672 chr19 17752331 17752331 T C rs201862997 UNC13A Nonsynonymous SNV N836S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.535 271673 chr7 150748941 150748941 A G ASIC3 Nonsynonymous SNV Y420C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 271674 chr7 100683646 100683646 C T rs144740371 MUC17 Synonymous SNV G2983G 0.003 0 0 0 3 0 0 0 0 0 0 0 12.05 271675 chr7 156742615 156742615 C T rs144364133 NOM1 Nonsynonymous SNV P62S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.911 271676 chr7 129384030 129384030 C A NRF1 Nonsynonymous SNV R456S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 271677 chr19 36108237 36108237 C T rs201575634 HAUS5 Nonsynonymous SNV L202F 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 31 271678 chr7 2580632 2580632 C T rs765815699 BRAT1 Nonsynonymous SNV S284N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.09 271679 chr19 52375974 52375974 C T rs199803652 ZNF577 Synonymous SNV P423P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.75 271680 chr19 52394460 52394460 C T ZNF649 Nonsynonymous SNV R310Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 271681 chr19 52619920 52619920 G A rs564357425 ZNF616 Nonsynonymous SNV T166M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.309 271682 chr19 36333062 36333062 G C rs370458453 NPHS1 Nonsynonymous SNV T876R 0.002 0 0 0 2 0 0 0 0 0 0 0 23 271683 chr19 36379479 36379479 C T rs142460503 NFKBID Synonymous SNV P323P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.36 271684 chr19 52919321 52919321 G A rs61997201 ZNF528 Nonsynonymous SNV E406K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.5 271685 chr19 38376967 38376967 C T rs774474905 WDR87 Synonymous SNV P2448P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.27 271686 chr7 143053746 143053746 C T rs368171076 FAM131B Nonsynonymous SNV R233Q 0.003 0 0 0 3 0 0 0 0 0 0 0 24.8 271687 chr11 60705382 60705382 C T rs769865109 SLC15A3 Synonymous SNV L517L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 271688 chr7 123143387 123143387 A T rs143732923 IQUB Nonsynonymous SNV V188E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 271689 chr7 123143419 123143419 T G rs202047597 IQUB 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 271690 chr11 60783256 60783256 G A rs569580908 CD6 Nonsynonymous SNV E455K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 271691 chr2 48026755 48026755 A G rs1064793403 MSH6 Nonsynonymous SNV K415E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.4 271692 chr2 55523490 55523490 C G rs763392095 CCDC88A Nonsynonymous SNV E1637D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 271693 chr2 55907990 55907990 C T rs774425075 PNPT1 Nonsynonymous SNV A173T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 34 271694 chr7 150646082 150646082 C T rs72549418 KCNH2 Synonymous SNV S478S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.79 271695 chr11 6341375 6341375 G A CAVIN3 Nonsynonymous SNV A111V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 271696 chr7 1520021 1520021 G A rs202125649 INTS1 Nonsynonymous SNV R1336W 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 271697 chr19 55967743 55967743 G C rs11555785 ISOC2 Nonsynonymous SNV I37M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 271698 chr7 140048466 140048466 G A rs142522455 SLC37A3 Synonymous SNV A247A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.2 271699 chr11 64606201 64606201 G T rs751090265 CDC42BPG Synonymous SNV A350A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.587 271700 chr19 55992618 55992618 G A ZNF628 Nonsynonymous SNV G20R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 271701 chr11 65266596 65266596 C T rs368911648 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 271702 chr11 65267658 65267658 - A rs757564661 MALAT1, TALAM1 0 0 0.007 0 0 0 0 2 0 0 0 0 271703 chr11 65337278 65337278 G A SSSCA1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 271704 chr7 75442658 75442658 A G rs782328673 CCL24 Nonsynonymous SNV S53P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.46 271705 chr19 56320457 56320457 G T NLRP11 Nonsynonymous SNV L408I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 271706 chr11 6561208 6561208 C - DNHD1 H1175Mfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 271707 chr7 150034653 150034653 C T rs764394517 LRRC61 Nonsynonymous SNV R235C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 271708 chr7 26246072 26246072 G A CBX3 Nonsynonymous SNV D37N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 271709 chr19 56572874 56572874 C T rs368938322 NLRP5 Nonsynonymous SNV R1195W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 271710 chr19 45900039 45900039 G A rs758499040 PPP1R13L Nonsynonymous SNV P159L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 271711 chr7 78636480 78636480 C T rs778206850 MAGI2 Nonsynonymous SNV R115Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 271712 chr7 150748948 150748948 C T rs777308679 ASIC3 Synonymous SNV T422T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 271713 chr11 68216325 68216325 C T rs145406397 LRP5 Synonymous SNV T964T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 10.17 271714 chr3 100373679 100373679 G A rs146175912 ADGRG7 Synonymous SNV R165R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.88 271715 chr11 70031739 70031739 G A rs201962504 ANO1 Nonsynonymous SNV D878N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 271716 chr11 70336465 70336465 C T rs563215970 SHANK2 Nonsynonymous SNV V235M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 271717 chr7 99995534 99995534 A C rs754646816 PILRA Synonymous SNV R163R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.431 271718 chr19 59074175 59074175 C T rs867776677 MZF1 Nonsynonymous SNV C490Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 271719 chr8 103424415 103424415 G C rs200446456 UBR5 Nonsynonymous SNV D16E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 271720 chr11 73075542 73075542 C T rs753030659 ARHGEF17 Nonsynonymous SNV T1816I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 271721 chr11 76919745 76919745 T C MYO7A Nonsynonymous SNV I1983T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 271722 chr11 802020 802020 C T rs537940511 PIDD1 Nonsynonymous SNV R416Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 271723 chr6 26199828 26199828 C T rs774190934 H2BC7 Synonymous SNV G14G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 271724 chr6 28057098 28057098 C T rs779773090 ZNF165 Synonymous SNV T436T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 271725 chr7 64168855 64168856 TG - ZNF107 C762Wfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 271726 chr6 35477526 35477526 C T rs117920214 TULP1 Synonymous SNV G148G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.314 271727 chr6 36106487 36106487 C T rs776758297 MAPK13 Synonymous SNV S257S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 271728 chr11 9459393 9459393 T C rs940341109 IPO7 Synonymous SNV I787I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.28 271729 chr8 133637677 133637677 T C rs970113847 LRRC6 Nonsynonymous SNV H144R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 271730 chr3 127327297 127327297 C T rs932560510 MCM2 Nonsynonymous SNV R392C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 271731 chr20 34782207 34782207 T G rs775578902 EPB41L1 Nonsynonymous SNV D396E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 271732 chr8 142161050 142161050 C A rs745572734 DENND3 Nonsynonymous SNV Q285K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.2 271733 chr20 42788803 42788803 G C rs398124358 JPH2 Synonymous SNV A208A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.532 271734 chr7 92733383 92733383 C T rs779914159 SAMD9 Synonymous SNV K676K 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 7.34 271735 chr3 134873004 134873004 C T rs376659602 EPHB1 Synonymous SNV T436T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 271736 chr6 44376224 44376224 C T rs373916286 CDC5L Nonsynonymous SNV A316V 0.001 0 0 0 1 0 0 0 0 0 0 0 28 271737 chr12 112673047 112673047 T A rs111790702 HECTD4 Nonsynonymous SNV T1927S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.74 271738 chr20 37384610 37384610 G A rs755412578 ACTR5 Synonymous SNV V368V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 271739 chr19 55858032 55858032 C T rs541864880 KMT5C Nonsynonymous SNV P291L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.519 271740 chr20 50776795 50776795 G A rs140782754 ZFP64 Synonymous SNV Y156Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.084 271741 chr12 113436186 113436186 G A OAS2 Nonsynonymous SNV E327K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.72 271742 chr20 43348736 43348736 C T rs908451148 CCN5 Nonsynonymous SNV R87W 0.001 0 0 0 1 0 0 0 0 0 0 0 23 271743 chr6 52138106 52138106 T A MCM3 Nonsynonymous SNV N252I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 271744 chr20 56140800 56140800 C A PCK1 Nonsynonymous SNV D603E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 271745 chr6 53989507 53989507 G A rs372029997 MLIP Synonymous SNV G152G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 271746 chr8 10467244 10467244 C G RP1L1 Nonsynonymous SNV S1455T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.409 271747 chr12 12022779 12022779 C T rs140005721 ETV6 Synonymous SNV D295D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.84 271748 chr8 113303799 113303799 A G rs138666266 CSMD3 Nonsynonymous SNV S2772P 0.002 0 0 0 2 0 0 0 0 0 0 0 29 271749 chr12 122516799 122516799 C T MLXIP Nonsynonymous SNV R14C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 271750 chr19 56701861 56701861 C T rs368972539 ZSCAN5B Nonsynonymous SNV V275I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.255 271751 chr12 123286335 123286335 C T rs765144942 CCDC62 Nonsynonymous SNV R548C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 271752 chr3 15737751 15737751 A C ANKRD28 Nonsynonymous SNV C333G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 271753 chr20 61467844 61467844 C T rs144292707 COL9A3 Synonymous SNV S521S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 271754 chr8 2071186 2071186 C T rs139807442 MYOM2 Nonsynonymous SNV T1172M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 271755 chr12 129308020 129308020 T C SLC15A4 Nonsynonymous SNV T157A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 271756 chr3 170893064 170893064 C T rs111810473 TNIK Synonymous SNV A250A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.76 271757 chr20 62494139 62494139 - GGCCACACGGACCCGCCTTCCCATGGCTGGTGGGCCAGGGCCTGA ABHD16B L430_S431insRPHGPAFPWLVGQGL 0.001 0 0 0 1 0 0 0 0 0 0 0 271758 chr12 133435739 133435739 C T rs764757412 CHFR Nonsynonymous SNV V196I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 271759 chr3 181430208 181430208 C T SOX2 Synonymous SNV G20G 0.003 0 0 0 3 0 0 0 0 0 0 0 22 271760 chr8 10465434 10465434 C T rs200660179 RP1L1 Synonymous SNV P2058P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.92 271761 chr21 34924441 34924441 A G SON Synonymous SNV R968R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.21 271762 chr8 144403406 144403406 T C rs777472352 TOP1MT Nonsynonymous SNV I273V 0.003 0 0 0 3 0 0 0 0 0 0 0 11.68 271763 chr21 37653784 37653784 T C DOP1B Nonsynonymous SNV M2012T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 271764 chr12 44782299 44782299 C A TMEM117 Nonsynonymous SNV D359E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 271765 chr21 44272400 44272400 G A rs1056166267 WDR4 Nonsynonymous SNV S336F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 271766 chr8 41525809 41525809 C A rs760157830 ANK1 Nonsynonymous SNV K1790N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 9.704 271767 chr3 24018766 24018766 C G rs138945807 NR1D2 Synonymous SNV L457L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.77 271768 chr20 18574386 18574386 C T DTD1 Stop gain Q19X 0.002 0 0 0 2 0 0 0 0 0 0 0 40 271769 chr3 27427491 27427491 G A rs367950369 SLC4A7 Synonymous SNV R1000R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 271770 chr20 19951535 19951535 C T rs531782187 RIN2 Nonsynonymous SNV S197L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.5 271771 chr8 53598021 53598021 T C rs369069488 RB1CC1 Synonymous SNV L3L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 7.047 271772 chr3 32409391 32409391 G A rs142665637 CMTM8 Nonsynonymous SNV V59I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.65 271773 chr21 46934980 46934980 G A SLC19A1 Synonymous SNV S460S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.473 271774 chr21 47536580 47536580 G A rs759838639 COL6A2 Nonsynonymous SNV D315N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 271775 chr9 101544780 101544780 G - ANKS6 F397Lfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 271776 chr12 53073748 53073748 A G KRT1 Nonsynonymous SNV F129L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.17 271777 chr9 103348344 103348364 CAGTCAGGAGAGAGGCTGAGA - rs777590435 CAVIN4 L248_R254del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 271778 chr20 42204866 42204866 G A rs551828538 SGK2 Synonymous SNV P292P 0.002 0 0.01 0 2 0 0 3 0 0 0 0 8.284 271779 chr12 54405085 54405085 C A HOXC8 Synonymous SNV R217R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 271780 chr3 45812867 45812867 C G rs990985652 SLC6A20 Synonymous SNV L222L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.502 271781 chr8 95522727 95522727 C T rs139494683 VIRMA Nonsynonymous SNV V1182I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.76 271782 chr8 95539023 95539023 G A rs183429012 VIRMA Synonymous SNV I483I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.066 271783 chr8 97172829 97172829 G A GDF6 Nonsynonymous SNV S31F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.9 271784 chr22 23492286 23492286 C G rs61758745 RAB36 Nonsynonymous SNV H102D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 271785 chr12 55715044 55715044 A G rs374079293 OR6C1 Nonsynonymous SNV R221G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 271786 chr9 100447273 100447273 T G rs200956475 XPA Nonsynonymous SNV E202A 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.05 271787 chr22 24734383 24734383 C A SPECC1L Synonymous SNV R864R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 271788 chr8 37633518 37633518 C T rs374410929 PLPBP Nonsynonymous SNV A237V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.64 271789 chr9 102590379 102590379 G A NR4A3 Nonsynonymous SNV A19T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.95 271790 chr21 47776923 47776923 C G rs150892737 PCNT Nonsynonymous SNV D539E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.99 271791 chr20 52790046 52790046 G C rs140851407 CYP24A1 Nonsynonymous SNV P25A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.19 271792 chr8 42611156 42611156 A G rs375308043 CHRNA6 Nonsynonymous SNV F381L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.087 271793 chr3 48632539 48632539 C G rs35899847 COL7A1 Synonymous SNV A18A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 19.36 271794 chr3 49049216 49049216 G A rs779475331 WDR6 Nonsynonymous SNV M57I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.481 271795 chr20 55840906 55840906 C A rs750655217 BMP7 Synonymous SNV A91A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 271796 chr12 58152628 58152628 G A rs146323526 MARCHF9 Nonsynonymous SNV R330H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 271797 chr8 54870835 54870835 C T rs368464649 RGS20 Synonymous SNV S92S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.16 271798 chr8 22168646 22168646 - T PIWIL2 Frameshift insertion Y610Lfs*34 0 0 0 1 0 0 0.003 0 0 0 0 0 271799 chr22 31492874 31492874 G T rs771689259 SMTN Nonsynonymous SNV V729F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 271800 chr9 112207527 112207527 G A rs757786954 PTPN3 Synonymous SNV A22A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.23 271801 chr3 52437753 52437753 C T rs576538858 BAP1 Nonsynonymous SNV G470R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.4 271802 chr22 32644733 32644733 C T rs142645380 SLC5A4 Synonymous SNV S123S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 271803 chr12 7053762 7053762 C T C12orf57 Nonsynonymous SNV T46M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 271804 chr22 37482458 37482458 C A rs201148397 TMPRSS6 Nonsynonymous SNV V280L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.774 271805 chr12 7354399 7354399 G C rs149102738 PEX5 Nonsynonymous SNV V202L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.66 271806 chr22 38041385 38041385 G A rs780563110 SH3BP1 Synonymous SNV S264S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.787 271807 chr9 117099420 117099420 C T rs147478032 AKNA Nonsynonymous SNV V1293I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.35 271808 chr3 58256789 58256789 C G ABHD6 Nonsynonymous SNV A174G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 271809 chr9 101814714 101814714 C T rs61736750 COL15A1 Synonymous SNV H983H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.081 271810 chr9 123952861 123952861 C T rs61757823 RAB14 Synonymous SNV A85A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 18.18 271811 chr12 9305930 9305930 C A PZP Nonsynonymous SNV V1262L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 271812 chr22 43015788 43015788 G A rs749586395 CYB5R3 Synonymous SNV F299F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 271813 chr3 9422300 9422300 A C THUMPD3 Nonsynonymous SNV E374D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 271814 chr22 45689106 45689106 G A rs776603910 UPK3A Nonsynonymous SNV G85R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 271815 chr9 113173703 113173703 A G rs372356648 SVEP1 Synonymous SNV S2096S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.136 271816 chr9 114423924 114423924 G A rs187667042 GNG10 Nonsynonymous SNV G4R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.83 271817 chr13 108862386 108862386 T C rs753182650 LIG4 Nonsynonymous SNV K411E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.765 271818 chr9 115806243 115806243 T C ZFP37 Nonsynonymous SNV T234A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 271819 chr4 107845819 107845819 G A rs146683175 DKK2 Nonsynonymous SNV H138Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 271820 chrX 10094234 10094234 C T rs768102482 WWC3 Nonsynonymous SNV P665L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 271821 chrX 12736212 12736212 C G rs376239767 FRMPD4 Nonsynonymous SNV D1049E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 271822 chrX 15800794 15800794 C A rs191657961 CA5BP1-CA5B 0.001 0 0 0 1 0 0 0 0 0 0 0 3.667 271823 chr13 23928871 23928871 G A rs370893484 SACS Nonsynonymous SNV T480M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.9 271824 chrX 22291206 22291206 T A rs138176282 CBLL2 Nonsynonymous SNV I33N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.94 271825 chrX 23803820 23803820 C G rs142757578 SAT1 Synonymous SNV R121R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.138 271826 chr9 123912741 123912741 G A rs573079842 CNTRL Nonsynonymous SNV V763I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 271827 chr9 139701477 139701477 A C rs201249285 CCDC183 Nonsynonymous SNV N482T 0 0 0 1 0 0 0.003 0 0 0 0 0 25 271828 chr9 139836653 139836653 G A rs775361894 FBXW5 Nonsynonymous SNV A314V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.8 271829 chr9 135996410 135996410 C T RALGDS Synonymous SNV P44P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.31 271830 chrX 38145033 38145033 G C RPGR Synonymous SNV G1073G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.959 271831 chr9 136899892 136899892 T C rs150679546 BRD3 Nonsynonymous SNV K666E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 271832 chrX 48650752 48650752 C T rs782785151 GATA1 Synonymous SNV C207C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.64 271833 chrX 53115326 53115328 TGA - rs782713520 TSPYL2 D587del 0.001 0 0 0 1 0 0 0 0 0 0 0 271834 chr22 50280610 50280610 G A rs370517414 ZBED4 Synonymous SNV P1100P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.525 271835 chrX 67940199 67940199 G A rs201457091 STARD8 Synonymous SNV T581T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 271836 chrX 69665119 69665119 G T DLG3 Nonsynonymous SNV R23L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 271837 chr4 146101041 146101041 G A rs1036103440 OTUD4 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 271838 chr4 149356308 149356308 T C rs61759976 NR3C2 Nonsynonymous SNV R569G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 21.5 271839 chr13 52346022 52346022 C G rs148725690 DHRS12 Nonsynonymous SNV R165P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.289 271840 chr4 151788953 151788953 T C rs906755821 LRBA Nonsynonymous SNV K879R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 271841 chrX 103268012 103268012 G C H2BW1 Nonsynonymous SNV S74C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 271842 chr13 66792439 66792439 T C rs76595065 MIR4704 0 0 0.007 0 0 0 0 2 0 0 0 0 0.174 271843 chr9 35662966 35662966 C T rs377282569 ARHGEF39 Nonsynonymous SNV R217H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 271844 chr13 78492349 78492349 G A rs199828501 EDNRB Synonymous SNV S120S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.21 271845 chrX 114427153 114427153 G A rs782333242 RBMXL3 Nonsynonymous SNV G1050D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 271846 chr9 35906348 35906353 CTGCTG - rs770170658 HRCT1 L27_L28del 0 0 0 1 0 0 0.003 0 0 0 0 0 271847 chr13 99852753 99852753 A G rs2296860 UBAC2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 7.653 271848 chr14 101011385 101011385 C G rs571419037 BEGAIN Nonsynonymous SNV M65I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 271849 chr9 125746913 125746913 C A RABGAP1 Synonymous SNV L100L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 271850 chr7 5427582 5427582 G C rs200830047 TNRC18 Nonsynonymous SNV P625A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 271851 chr9 71155501 71155501 A T TMEM252 Nonsynonymous SNV L77H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 271852 chr7 64275351 64275351 G A ZNF138 Nonsynonymous SNV C20Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 271853 chrX 148048439 148048439 C T rs201632076 AFF2 Synonymous SNV T652T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.5 271854 chrX 150348680 150348680 G A rs367648979 GPR50 Nonsynonymous SNV V209M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 271855 chr14 104644115 104644115 C T rs753386362 KIF26A Nonsynonymous SNV R1664W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 271856 chr9 27009095 27009095 T C rs144847384 IFT74 Nonsynonymous SNV M222T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.4 271857 chr9 130487111 130487155 CGAGGGCGCCAACACGCGCATGGGCCTGCTGCAGGAGAAGATGGG - rs753641914 TTC16 E386_G400del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 271858 chr9 33264523 33264523 C G rs11551680 BAG1 Synonymous SNV R50R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.075 271859 chrX 153295944 153295944 C T rs3027927 MECP2 Synonymous SNV T457T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 9.544 271860 chrX 153689549 153689549 C T rs148620908 PLXNA3 Synonymous SNV F235F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 271861 chr1 957656 957656 G T AGRN Nonsynonymous SNV V93L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 271862 chr9 140069743 140069743 G A rs143775204 ANAPC2 Synonymous SNV D734D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.076 271863 chr9 134385749 134385749 C T rs756974607 POMT1 Nonsynonymous SNV R116C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 271864 chr4 2932615 2932615 A G MFSD10 Nonsynonymous SNV F440L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 271865 chr4 3176747 3176747 A G rs199875867 HTT Synonymous SNV T1440T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 271866 chr1 2418679 2418679 G A rs367661559 PLCH2 Synonymous SNV Q299Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.979 271867 chr4 37446136 37446136 G A rs750066787 NWD2 Synonymous SNV T842T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.986 271868 chrX 132161751 132161751 T C rs781660201 USP26 Synonymous SNV T166T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.011 271869 chrX 153184377 153184377 G C rs140619653 ARHGAP4 Nonsynonymous SNV P314R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 271870 chr9 96021353 96021353 G A rs139745075 WNK2 Synonymous SNV P841P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.36 271871 chr14 35233994 35233994 T A rs764143855 BAZ1A Nonsynonymous SNV D1200V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 271872 chr14 36219886 36219886 C A rs779681128 RALGAPA1 Nonsynonymous SNV Q271H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 271873 chrX 21627348 21627348 C A CNKSR2 Nonsynonymous SNV Q690K 0 0 0 2 0 0 0.005 0 0 0 0 1 24 271874 chr9 140356736 140356736 G A rs200346070 PNPLA7 Synonymous SNV C1155C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 8.337 271875 chr22 45683248 45683248 G A rs147406393 UPK3A Nonsynonymous SNV R135K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.5 271876 chr4 7043800 7043800 C T CCDC96 Nonsynonymous SNV G289D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 271877 chr22 50721308 50721308 G A rs755337831 PLXNB2 Nonsynonymous SNV T940M 0.002 0 0 0 2 0 0 0 0 0 0 0 15.88 271878 chrX 77394355 77394355 A G rs782422204 TAF9B Synonymous SNV L40L 0 0 0 2 0 0 0.005 0 0 0 0 1 9.1 271879 chr14 64935210 64935210 C T AKAP5 Nonsynonymous SNV S33F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 271880 chr22 50920304 50920304 G A rs753872221 ADM2 Nonsynonymous SNV G10S 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 271881 chr14 65511461 65511461 G A rs560462864 MIR4706 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 271882 chr1 20998630 20998630 G A KIF17 Synonymous SNV I841I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.1 271883 chr1 21042094 21042094 G T rs12046928 KIF17 Stop gain Y90X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 271884 chr10 125601916 125601916 C T rs367714651 CPXM2 Nonsynonymous SNV R201H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 271885 chrX 100274279 100274279 C T TRMT2B Nonsynonymous SNV G428R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 271886 chr9 5123097 5123097 T C rs749700990 JAK2 Synonymous SNV I902I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.166 271887 chr14 75276255 75276255 A C YLPM1 Nonsynonymous SNV Q1565P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 271888 chr4 86916283 86916283 C T rs745311850 ARHGAP24 Synonymous SNV L299L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.237 271889 chr8 144997714 144997714 C T rs201895791 PLEC Nonsynonymous SNV R2114Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.002 271890 chr9 78911690 78911690 C T rs757117001 PCSK5 Synonymous SNV D1144D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 271891 chr14 78288796 78288796 G C ADCK1 Nonsynonymous SNV D52H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 271892 chr10 134219360 134219360 G A rs561859002 PWWP2B Synonymous SNV A452A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.497 271893 chr1 26515406 26515406 C T rs142576097 CNKSR1 Stop gain R619X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 271894 chr8 145656465 145656465 A C rs574845380 TONSL Nonsynonymous SNV C1269G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.31 271895 chr14 90485721 90485721 C T rs754519508 TDP1 Nonsynonymous SNV R535C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 271896 chr1 26648704 26648704 C T rs752775261 CRYBG2 Synonymous SNV S1616S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.03 271897 chr10 135002088 135002088 C T rs145879360 KNDC1 Nonsynonymous SNV R458W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 271898 chr14 93649612 93649612 A G rs763733037 MOAP1 Synonymous SNV L326L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.334 271899 chr5 102295613 102295613 A G rs749960265 PAM Nonsynonymous SNV I314V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 271900 chr10 13701386 13701386 T C FRMD4A Nonsynonymous SNV Q359R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 271901 chr14 94849346 94849348 AGA - rs775982338 SERPINA1 F76del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 271902 chr5 108717305 108717305 C T PJA2 Nonsynonymous SNV S44N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 271903 chr14 96807924 96807924 G A rs374146554 ATG2B Nonsynonymous SNV R287W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 271904 chr1 33583604 33583604 C A rs762980724 AZIN2 Nonsynonymous SNV H282Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.07 271905 chr5 112769991 112769991 C T TSSK1B Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 271906 chr5 112868684 112868684 G T YTHDC2 Nonsynonymous SNV A100S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 271907 chr15 102215897 102215897 A G TARSL2 Nonsynonymous SNV V565A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 271908 chr10 102283855 102283855 G A NDUFB8 Synonymous SNV A170A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.834 271909 chr8 23106860 23106860 C T rs149327190 CHMP7 Nonsynonymous SNV A36V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.44 271910 chr10 3190343 3190343 G A rs759296744 PITRM1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.514 271911 chr1 41483391 41483391 G T rs762830136 SLFNL1 Synonymous SNV G291G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.195 271912 chr1 42045833 42045833 A T HIVEP3 Nonsynonymous SNV L1546M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 271913 chrX 47272335 47272335 C A ZNF157 Nonsynonymous SNV S288Y 0.003 0 0 0 4 0 0 0 1 0 0 0 6.422 271914 chr1 43888985 43888985 C T rs372607259 SZT2 Synonymous SNV I751I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.02 271915 chr5 135651541 135651541 C G TRPC7-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 0.765 271916 chr1 44386113 44386113 G A rs144263012 ST3GAL3 Nonsynonymous SNV R230Q 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 23 271917 chr10 46999469 46999469 C T rs782749554 GPRIN2 Nonsynonymous SNV P197S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 271918 chr15 41669486 41669486 C T NUSAP1 Nonsynonymous SNV P343S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 271919 chr15 42178168 42178168 G A rs370725104 SPTBN5 Nonsynonymous SNV R429W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 271920 chrX 70617127 70617127 A G TAF1 Nonsynonymous SNV N1144S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.532 271921 chrX 71349923 71349923 C G rs200189694 RTL5 Nonsynonymous SNV A490P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.967 271922 chr10 55566787 55566787 T C PCDH15 Nonsynonymous SNV H1527R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.283 271923 chr5 140741802 140741802 - G rs760855582 PCDHGB2 Frameshift insertion V701Gfs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 271924 chr15 48818369 48818369 G A rs756687172 FBN1 Nonsynonymous SNV P316S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 271925 chr5 140784679 140784679 C A rs751034521 PCDHGA9 Nonsynonymous SNV H720Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.359 271926 chr15 52416786 52416786 C T rs144138544 GNB5 Nonsynonymous SNV V312I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 271927 chr1 65130198 65130198 A G rs745569227 CACHD1 Synonymous SNV E408E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.424 271928 chr15 62536865 62536865 T C rs113975904 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 5.675 271929 chr15 62538594 62538614 CCTCTCCTCTTGCTCCAGCAA - GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 271930 chr15 62539565 62539565 G A rs111740602 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 1.232 271931 chr15 65116238 65116238 G C rs773636413 PIF1 Synonymous SNV G99G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.049 271932 chr10 128974063 128974063 C T rs370957941 INSYN2A Synonymous SNV P199P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.728 271933 chr1 77987545 77987545 G C AK5 Nonsynonymous SNV V423L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.864 271934 chr10 7608001 7608001 C - ITIH5 G626Dfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 271935 chr15 66615204 66615204 G A DIS3L Synonymous SNV G376G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.129 271936 chr15 67629404 67629404 - A IQCH Frameshift insertion P161Tfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 271937 chr15 68649530 68649530 T C ITGA11 Synonymous SNV G236G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.056 271938 chr1 87012929 87012929 C T rs2231580 CLCA4 Nonsynonymous SNV P43S 0 0.005 0 0 0 2 0 0 0 0 0 0 22.8 271939 chr10 114177604 114177604 G A ACSL5 Nonsynonymous SNV D463N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.25 271940 chr15 71300790 71300790 C T rs146593930 LRRC49 Synonymous SNV D419D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 271941 chr15 72191025 72191025 T A MYO9A Nonsynonymous SNV E1273D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 271942 chr15 72640059 72640059 C T HEXA Nonsynonymous SNV V372M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 271943 chr5 159344354 159344354 C T ADRA1B Nonsynonymous SNV R148C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 271944 chr5 168093595 168093595 C T rs184693277 SLIT3 Nonsynonymous SNV R1486H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 271945 chr10 129217984 129217984 G A rs775773512 DOCK1 Nonsynonymous SNV E1583K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 271946 chr10 15885240 15885240 G A rs369323055 MINDY3 Nonsynonymous SNV S69L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 271947 chr10 124187889 124187889 C T PLEKHA1 Nonsynonymous SNV P333L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 271948 chr10 126136614 126136614 C A NKX1-2 Nonsynonymous SNV R106L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.93 271949 chr1 114354464 114354464 G A RSBN1 Nonsynonymous SNV R191W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 271950 chr15 91491064 91491064 C T rs201690754 UNC45A Synonymous SNV F368F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 271951 chr1 145542242 145542242 T C rs41313876 ITGA10 Synonymous SNV P1013P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.31 271952 chr10 70719678 70719678 C A rs201516552 DDX21 Nonsynonymous SNV D68E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 271953 chr10 72500803 72500803 C T rs147974933 ADAMTS14 Synonymous SNV S603S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 271954 chr5 52779929 52779929 G A rs542624483 FST Nonsynonymous SNV S176N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 271955 chr10 75556851 75556851 G A rs138567501 ZSWIM8-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.021 271956 chr16 14234480 14234480 C T rs766778650 MRTFB Nonsynonymous SNV A6V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 271957 chr10 27012985 27012985 G A PDSS1 Nonsynonymous SNV R255K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 271958 chr10 77158593 77158593 C T rs200846000 ZNF503 Nonsynonymous SNV V619M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.92 271959 chr10 29818733 29818733 C T rs148902382 SVIL Nonsynonymous SNV R322Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.67 271960 chr16 1823063 1823063 C A MRPS34 Nonsynonymous SNV A20S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 271961 chr16 1828225 1828225 G T SPSB3 Synonymous SNV G134G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.866 271962 chr16 19455566 19455566 G A TMC5 Nonsynonymous SNV G318S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 271963 chr10 45891358 45891358 A G rs780972170 ALOX5 Synonymous SNV E135E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 271964 chr16 21033395 21033395 G C rs767694374 DNAH3 Nonsynonymous SNV Q1846E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 271965 chr10 94828376 94828376 C T rs140502479 CYP26C1 Synonymous SNV I497I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 18.76 271966 chr16 21728350 21728350 G A rs769910976 OTOA Synonymous SNV K213K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 271967 chr16 23226779 23226779 G T rs72647543 SCNN1G Nonsynonymous SNV D647Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.81 271968 chr11 119206052 119206052 C T rs758538200 RNF26 Nonsynonymous SNV R74W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 271969 chr16 27374803 27374803 C T rs780432027 IL4R Synonymous SNV G710G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 271970 chr5 79355586 79355586 C T rs199831631 THBS4 Nonsynonymous SNV P191L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.21 271971 chr1 158615012 158615012 C T rs368282292 SPTA1 Nonsynonymous SNV R1387H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 271972 chr10 72358215 72358215 A C rs200534908 PRF1 Nonsynonymous SNV F421C 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.005 271973 chr10 76910503 76910503 C T rs767492135 SAMD8 Stop gain R73X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 271974 chr10 76994732 76994739 TCTTGTGC - rs926143361 COMTD1 E153Dfs*145 0.001 0 0 0 1 0 0 0 0 0 0 0 271975 chr5 82834369 82834369 T G rs376657103 VCAN Synonymous SNV V862V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 271976 chr16 3077585 3077585 C T rs757827184 THOC6 Nonsynonymous SNV T273I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 271977 chr16 3299520 3299520 C T rs764274816 MEFV Nonsynonymous SNV D180N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 271978 chr9 32542757 32542757 T C rs767276423 TOPORS Nonsynonymous SNV H524R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 271979 chr1 169578831 169578831 C T rs142224750 SELP Nonsynonymous SNV R415H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.062 271980 chr10 82271944 82271944 C T rs557091330 TSPAN14 Synonymous SNV N42N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.58 271981 chr10 90966593 90966593 A G CH25H Nonsynonymous SNV Y153H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 271982 chr1 176709293 176709293 G C PAPPA2 Nonsynonymous SNV C1371S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 271983 chr11 1271636 1271636 C T rs558959373 MUC5B Nonsynonymous SNV A4509V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.106 271984 chr9 6587176 6587176 G A rs74461075 GLDC Synonymous SNV L605L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.64 271985 chr11 102666192 102666192 C T MMP1 Nonsynonymous SNV A192T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 271986 chr9 71854934 71854934 T G TJP2 Nonsynonymous SNV F817V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 271987 chr1 180124203 180124203 T G QSOX1 Nonsynonymous SNV V54G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 271988 chr11 133790160 133790160 C T IGSF9B Nonsynonymous SNV E1154K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 271989 chr10 8007502 8007502 A G TAF3 Nonsynonymous SNV M677V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 271990 chr11 14880636 14880636 G A rs782709872 PDE3B Synonymous SNV A856A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 271991 chr10 97154830 97154830 T C rs62625036 SORBS1 Nonsynonymous SNV T277A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 271992 chr11 1780259 1780259 C T rs372999684 CTSD Synonymous SNV S137S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.59 271993 chr16 58537646 58537646 A G rs745877706 NDRG4 0 0 0.003 0 0 0 0 1 0 0 0 0 8.236 271994 chr16 602511 602511 G A rs58193217 CAPN15 Synonymous SNV P906P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.283 271995 chr1 186134288 186134288 T C HMCN1 Nonsynonymous SNV V5101A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.566 271996 chr1 186281347 186281347 A G PRG4 Synonymous SNV V1144V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.542 271997 chr16 67328054 67328054 C A rs201132591 KCTD19 Synonymous SNV V537V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 271998 chr16 67404973 67404973 G A LRRC36 Nonsynonymous SNV G320E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 271999 chr16 67858656 67858658 GAG - rs754888426 TSNAXIP1 E131del 0 0 0.003 0 0 0 0 1 0 0 0 0 272000 chr11 19735320 19735320 G T rs373558916 NAV2 Nonsynonymous SNV V27L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 272001 chr16 697506 697506 C T MCRIP2 Nonsynonymous SNV T91I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 272002 chr10 99511194 99511194 A G ZFYVE27 Nonsynonymous SNV D166G 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 272003 chr11 2189781 2189781 C T rs201911992 TH Nonsynonymous SNV A143T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.633 272004 chr16 72828916 72828916 G A rs368694584 ZFHX3 Synonymous SNV S1641S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.712 272005 chr1 201263130 201263130 A G rs141060367 PKP1 Nonsynonymous SNV Y88C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24 272006 chr1 202711860 202711860 G T rs772836354 KDM5B Nonsynonymous SNV H754Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 272007 chr16 78466473 78466473 A G rs775585652 WWOX Nonsynonymous SNV N181D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 272008 chr1 203767199 203767199 T C rs948916345 ZBED6 Synonymous SNV H183H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 272009 chr1 204380419 204380419 C T PPP1R15B Nonsynonymous SNV G41S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.75 272010 chr11 123865288 123865288 C T rs746410475 OR10G6 Nonsynonymous SNV R194Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.408 272011 chr11 116692378 116692378 C T rs759335195 APOA4 Synonymous SNV Q132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.315 272012 chr1 209791341 209791341 G A rs2229467 LAMB3 Nonsynonymous SNV R988W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 272013 chr1 210015960 210015960 T C UTP25 Synonymous SNV S567S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.415 272014 chr11 46407427 46407427 G A CHRM4 Synonymous SNV H227H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 272015 chr6 160966534 160966534 C T LPA Nonsynonymous SNV G1779D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 272016 chr11 10517183 10517183 C T rs745357827 AMPD3 Nonsynonymous SNV R286C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 272017 chr11 107299849 107299849 C A CWF19L2 Nonsynonymous SNV R370I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 272018 chr6 170049335 170049335 A T WDR27 Nonsynonymous SNV S315R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 272019 chr11 128844513 128844513 G A rs199606055 ARHGAP32 Nonsynonymous SNV P497L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 272020 chr11 110451106 110451106 C A rs148615316 ARHGAP20 Nonsynonymous SNV R832L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.16 272021 chr17 1174051 1174051 C T rs898059854 BHLHA9 Nonsynonymous SNV A65V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 272022 chr11 11354268 11354268 C T GALNT18 Nonsynonymous SNV M401I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 272023 chr11 15197552 15197552 G A rs753182550 INSC Nonsynonymous SNV V108M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 272024 chr11 16133393 16133393 G A SOX6 Nonsynonymous SNV A285V 0.002 0 0 0 2 0 0 0 0 0 0 0 28 272025 chr17 1538561 1538561 G A rs8072430 SCARF1 Nonsynonymous SNV R662W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 272026 chr11 16838478 16838478 G A rs558533035 PLEKHA7 Nonsynonymous SNV P579S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.221 272027 chr17 15884373 15884373 C T rs367833082 ZSWIM7 Nonsynonymous SNV R96Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 272028 chr6 26285533 26285533 G A rs61746492 H4C8 Synonymous SNV N65N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.728 272029 chr17 17106242 17106242 C G PLD6 Nonsynonymous SNV E200Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 272030 chr6 28358632 28358632 T C ZSCAN12 Nonsynonymous SNV I479V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.973 272031 chr17 17700682 17700682 C T rs991550525 RAI1 Nonsynonymous SNV L1474F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 272032 chr11 117651380 117651380 C G DSCAML1 Synonymous SNV G64G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 272033 chr6 32520676 32520676 A G rs67536864 HLA-DRB6 0.003 0 0 0 4 0 0 0 2 0 0 0 3.682 272034 chr17 18923219 18923219 C T rs774693004 SLC5A10 Nonsynonymous SNV T508I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 272035 chr11 20070303 20070303 T C NAV2 Nonsynonymous SNV V397A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.188 272036 chr11 129724533 129724533 T C TMEM45B Synonymous SNV D69D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 272037 chr6 34825230 34825230 A G UHRF1BP1 Nonsynonymous SNV D519G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 272038 chr1 232568102 232568102 T G rs745521843 SIPA1L2 Nonsynonymous SNV M1383L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.108 272039 chr11 55321946 55321946 T C rs148521855 OR4C15 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 272040 chr6 35288724 35288724 C T rs1005606816 DEF6 Nonsynonymous SNV R549W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 272041 chr11 126276388 126276388 T G rs748774231 ST3GAL4 Nonsynonymous SNV L12V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.362 272042 chr11 17393866 17393866 C T rs370381456 NCR3LG1 Nonsynonymous SNV T391I 0.003 0 0 0 3 0 0 0 0 0 0 0 13.77 272043 chr11 3125461 3125461 C T OSBPL5 Synonymous SNV K334K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.95 272044 chr17 29258940 29258940 T A ADAP2 Stop gain Y123X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 272045 chr11 18499292 18499292 T C rs1026579112 LDHAL6A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 272046 chr17 31267977 31267977 C T rs752373747 TMEM98 Nonsynonymous SNV P216L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 272047 chr11 133778994 133778994 G A rs547079528 IGSF9B Synonymous SNV H1428H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.619 272048 chr11 18739605 18739605 G T IGSF22 Synonymous SNV G282G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.265 272049 chr17 33289602 33289602 A C ZNF830 Nonsynonymous SNV K339N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 272050 chr11 34165057 34165057 C T rs143930117 NAT10 Nonsynonymous SNV S912L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 272051 chr17 3427582 3427582 G A rs200686536 TRPV3 Synonymous SNV L551L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 272052 chr11 40137724 40137724 C A LRRC4C Nonsynonymous SNV G40V 0.002 0 0 0 2 0 0 0 0 0 0 0 24 272053 chr11 40137834 40137834 G A LRRC4C Synonymous SNV N3N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.158 272054 chr6 43416666 43416666 C G rs764754258 ABCC10 Nonsynonymous SNV T1308S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 272055 chr11 45924425 45924425 G A rs751459395 MAPK8IP1 Synonymous SNV S369S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.17 272056 chr11 47178689 47178689 C T rs750635856 C11orf49 Synonymous SNV G180G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.93 272057 chr1 248551050 248551050 C T rs142874086 OR2T6 Synonymous SNV F47F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.19 272058 chr1 248756369 248756369 C T rs745595536 OR2T10 Nonsynonymous SNV R234Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 272059 chr11 34182582 34182582 C T rs373904135 ABTB2 Synonymous SNV S755S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 272060 chr11 57254668 57254668 G A SLC43A1 Nonsynonymous SNV T478M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 272061 chr6 56391356 56391356 T C DST Nonsynonymous SNV K3355E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 272062 chr6 64430751 64430751 T C EYS Nonsynonymous SNV Y3059C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 272063 chr2 16080206 16080206 A G rs954069642 MYCNOS 0 0.003 0 0 0 1 0 0 0 0 0 0 6.257 272064 chr11 60070091 60070094 AATC - rs754562424 MS4A4A I150Tfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 272065 chr17 42089387 42089387 G A rs147985387 TMEM101 Nonsynonymous SNV T228M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 272066 chr11 60201250 60201250 C T rs149549037 MS4A5 Stop gain R118X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 272067 chr17 44953884 44953884 C T rs778566187 WNT9B Nonsynonymous SNV R292W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 272068 chr17 45044063 45044063 A G GOSR2 Synonymous SNV Q249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.486 272069 chr17 45401890 45401890 G A rs189087106 EFCAB13 0 0 0.003 0 0 0 0 1 0 0 0 0 9.804 272070 chr11 36483962 36483962 C T rs113543424 PRR5L Synonymous SNV S133S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.52 272071 chr6 90472232 90472232 T A MDN1 Nonsynonymous SNV H721L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 272072 chr6 90500117 90500117 C T rs76489362 MDN1 Nonsynonymous SNV G287S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.015 272073 chr11 36614810 36614810 C A rs141025671 RAG2 Nonsynonymous SNV E303D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 22.7 272074 chr1 3392594 3392594 C - ARHGEF16 L481Cfs*15 0 0 0 2 0 0 0.005 0 0 0 0 0 272075 chr11 62483408 62483408 C T rs533366736 HNRNPUL2 Synonymous SNV V661V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 272076 chr11 408859 408859 C T rs141720883 SIGIRR Synonymous SNV P14P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 272077 chr17 56598414 56598414 G A rs1008521483 SEPTIN4 Nonsynonymous SNV R309W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 272078 chr11 65360655 65360655 T C rs374743370 KCNK7 Nonsynonymous SNV M249V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.023 272079 chr1 15769919 15769919 A G CTRC Nonsynonymous SNV D121G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 272080 chr11 67379377 67379377 G T NDUFV1 Nonsynonymous SNV V355L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 272081 chr7 101267300 101267301 CT - MYL10 L59Gfs*42 0.001 0 0.003 0 1 0 0 1 0 0 0 0 272082 chr17 7125591 7125591 T C rs113994167 ACADVL Nonsynonymous SNV V261A 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 26 272083 chr11 6913531 6913531 A T rs745582368 OR2D2 Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 272084 chr7 112102071 112102071 C G rs79480470 IFRD1 Nonsynonymous SNV L162V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.3 272085 chr11 72492213 72492213 G A STARD10 Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 272086 chr7 121717919 121717919 C T rs746330018 AASS Nonsynonymous SNV A879T 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272087 chr17 72955081 72955081 C T rs776153405 HID1 Synonymous SNV L358L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 272088 chr17 73498615 73498615 G A rs770625410 CASKIN2 Nonsynonymous SNV P765L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 272089 chr11 76507658 76507658 C G TSKU Nonsynonymous SNV P333R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.612 272090 chr11 57472234 57472234 C T MED19 Synonymous SNV K193K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 272091 chr2 109545803 109545803 G A rs147059377 EDAR Synonymous SNV Y69Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.926 272092 chr17 76548883 76548884 TT - rs756041139 DNAH17 K728Dfs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 272093 chr7 138958713 138958713 A T rs377370674 UBN2 Synonymous SNV G622G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.107 272094 chr2 128044417 128044417 C T rs1805162 ERCC3 Nonsynonymous SNV G402S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 272095 chr2 135630204 135630204 T C rs200995606 ACMSD Nonsynonymous SNV I223T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 272096 chr11 89956063 89956063 G A rs757733387 CHORDC1 Synonymous SNV S20S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 272097 chr11 57479667 57479667 G - rs547871312 MED19 A14Rfs*72 0 0.003 0 1 0 1 0.003 0 0 0 0 0 272098 chr11 64060514 64060514 C T rs76192175 KCNK4 Synonymous SNV A8A 0.003 0 0 2 3 0 0.005 0 0 0 0 0 14.32 272099 chr17 79991696 79991696 C T rs765517715 RAC3 Synonymous SNV T190T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.367 272100 chr7 149475919 149475919 G - rs568602818 SSPO 0.003 0.003 0.003 1 4 1 0.003 1 0 0 0 0 272101 chr17 80048271 80048271 G A rs45444391 FASN Nonsynonymous SNV P617L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.915 272102 chr2 159488324 159488324 G T PKP4 Nonsynonymous SNV V405L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 272103 chr12 104078836 104078836 T C rs770624083 STAB2 Nonsynonymous SNV F991L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.889 272104 chr12 104697805 104697805 C T EID3 Synonymous SNV T31T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 272105 chr18 10675267 10675267 A G rs534257811 PIEZO2 Synonymous SNV Y2587Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.819 272106 chr11 6790144 6790144 C T rs138647617 OR2AG2 Synonymous SNV V15V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.12 272107 chr2 169940096 169940096 A G rs573494526 DHRS9 Nonsynonymous SNV R191G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 272108 chr12 110017669 110017669 T C MVK Synonymous SNV L97L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 272109 chr1 47765708 47765708 C G STIL Nonsynonymous SNV W190C 0 0 0 1 0 0 0.003 0 0 0 0 0 25 272110 chr2 171573406 171573406 C T SP5 Nonsynonymous SNV A230V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.6 272111 chr12 112843658 112843658 T C rs776279399 RPL6 Nonsynonymous SNV E238G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 272112 chr2 179238617 179238617 G A OSBPL6 Nonsynonymous SNV A435T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.79 272113 chr11 71148894 71148894 G T rs149974099 DHCR7 Synonymous SNV G309G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.96 272114 chr7 27195887 27195887 C A HOXA7 Nonsynonymous SNV C93F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 272115 chr18 30092790 30092790 G A rs1049971713 WBP11P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.249 272116 chr11 71208625 71208625 G A rs202246678 NADSYN1 Nonsynonymous SNV G621S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.091 272117 chr18 3112310 3112310 G A MYOM1 Nonsynonymous SNV A1039V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 272118 chr11 73021324 73021324 C T rs749020302 ARHGEF17 Synonymous SNV F547F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.775 272119 chr12 120114475 120114475 C T rs146667625 PRKAB1 Synonymous SNV S222S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.405 272120 chr11 6644198 6644198 T A DCHS1 Synonymous SNV I2903I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.868 272121 chr1 60223663 60223666 AAGT - FGGY K226Ifs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 272122 chr18 43490577 43490577 C T EPG5 Nonsynonymous SNV V1372I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 272123 chr11 62455422 62455422 C T LRRN4CL Nonsynonymous SNV A187T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 272124 chr18 47652919 47652919 C T MIR4320 0 0 0.003 0 0 0 0 1 0 0 0 0 7.878 272125 chr18 47801561 47801561 G A rs770486019 MBD1 Nonsynonymous SNV R234C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 272126 chr18 48327869 48327869 G A rs557582477 MRO Synonymous SNV N159N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.919 272127 chr2 190569771 190569771 T C ANKAR Synonymous SNV A577A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.188 272128 chr11 640104 640104 C T rs745991309 DRD4 Synonymous SNV L285L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.235 272129 chr11 64030148 64030148 G A PLCB3 Synonymous SNV R674R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 272130 chr11 64366298 64366298 C T rs150255373 SLC22A12 Nonsynonymous SNV R217W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 272131 chr2 202151188 202151188 T A CASP8 Nonsynonymous SNV D422E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.227 272132 chr1 78408274 78408274 T G rs199738750 NEXN Nonsynonymous SNV S532R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 23 272133 chr1 79102863 79102863 A G IFI44L Synonymous SNV Q341Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.092 272134 chr11 64811882 64811882 C T rs200895333 SAC3D1 Nonsynonymous SNV R254C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 272135 chr12 133306790 133306790 T C rs772731224 ANKLE2 Nonsynonymous SNV N653S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 272136 chr2 212248709 212248709 G A rs772305139 ERBB4 Synonymous SNV P1170P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.543 272137 chr18 77475506 77475506 G A rs756882272 CTDP1 Synonymous SNV T563T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.303 272138 chr18 77893800 77893800 C T rs118035298 ADNP2 Synonymous SNV Y168Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.883 272139 chr7 55238010 55238010 G A rs909905659 EGFR Nonsynonymous SNV E631K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.572 272140 chr18 9950508 9950508 G T rs185666210 VAPA Nonsynonymous SNV E178D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 272141 chr11 68675731 68675731 G T rs1024451110 IGHMBP2 Nonsynonymous SNV Q125H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.35 272142 chr19 10224759 10224759 C T rs776329867 P2RY11, PPAN-P2RY11 Nonsynonymous SNV A157V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 272143 chr2 220116890 220116890 C T rs141429751 TUBA4A Synonymous SNV E7E 0 0.003 0 0 0 1 0 0 0 0 0 0 13 272144 chr11 70505973 70505973 G A rs782071505 SHANK2 Nonsynonymous SNV A86V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 272145 chr11 71175160 71175160 C T rs201096943 NADSYN1 Nonsynonymous SNV R127C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 272146 chr2 220354214 220354214 C A SPEG Nonsynonymous SNV P2825H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.47 272147 chr11 73074315 73074315 G A ARHGEF17 Synonymous SNV E1687E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.51 272148 chr12 109719428 109719428 G T rs62640914 FOXN4 Nonsynonymous SNV P360T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 272149 chr19 11363497 11363497 C T rs377251719 DOCK6 Synonymous SNV R90R 0 0 0.007 0 0 0 0 2 0 0 0 0 17.63 272150 chr12 109996925 109996925 G A rs61739388 MMAB Nonsynonymous SNV A207V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.891 272151 chr7 77408240 77408240 C T rs755864930 RSBN1L Nonsynonymous SNV P766S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 272152 chr19 12920922 12920922 A G RNASEH2A Nonsynonymous SNV Q150R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 272153 chr7 77649089 77649089 C T rs145648453 MAGI2 Nonsynonymous SNV G1290D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 23.2 272154 chr12 4430449 4430449 C A TIGAR Nonsynonymous SNV F4L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 272155 chr7 86825992 86825992 C T TMEM243 Nonsynonymous SNV C106Y 0.002 0 0 0 2 0 0 0 0 0 0 0 28 272156 chr19 14521930 14521930 T G DDX39A Nonsynonymous SNV K162Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 272157 chr11 78525437 78525437 G A rs767518041 TENM4 Nonsynonymous SNV S562L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 272158 chr19 15512193 15512193 G A rs572937620 AKAP8L Nonsynonymous SNV S134L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.3 272159 chr11 82644611 82644611 A C rs201151239 DDIAS Nonsynonymous SNV H744P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 272160 chr2 234601811 234601811 A C UGT1A6 Nonsynonymous SNV H54P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 272161 chr12 111856116 111856116 C G SH2B3 Nonsynonymous SNV A56G 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 272162 chr19 16640706 16640706 G C CHERP Synonymous SNV T294T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 272163 chr12 100660710 100660710 T C rs774607511 DEPDC4 Nonsynonymous SNV K49E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.192 272164 chr19 17394523 17394523 G A rs145003500 ANKLE1 Nonsynonymous SNV C306Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 272165 chr12 124950773 124950773 C T rs368495657 NCOR2 Synonymous SNV P217P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 272166 chr12 104234864 104234864 C A NT5DC3 Nonsynonymous SNV R24L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.39 272167 chr19 17836988 17836988 C T rs768423889 MAP1S Synonymous SNV V239V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.668 272168 chr8 104928681 104928681 G C rs746446826 RIMS2 Nonsynonymous SNV G506A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 272169 chr19 18499449 18499449 T G rs372120002 GDF15 Nonsynonymous SNV C211G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 272170 chr8 11301840 11301840 G A rs775338153 FAM167A Synonymous SNV L27L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.415 272171 chr19 1923069 1923069 C T rs150966262 SCAMP4 Synonymous SNV C88C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.401 272172 chr19 1924262 1924262 G A rs768909018 SCAMP4 Synonymous SNV P179P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 272173 chr12 102041825 102041825 C A MYBPC1 Nonsynonymous SNV P314T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 272174 chr12 133196445 133196445 A G rs777322684 P2RX2 Nonsynonymous SNV N41D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.014 272175 chr19 20727967 20728134 TGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTTTTATGTGTAGTAAGGACAGAGGGGTGCTTAAAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCGCTATGAATTATCTTATGCGCAGTAAGGATAGAGGAGCGCTTAAAGGCCT - ZNF737 K292_G347del 0 0 0.003 0 0 0 0 1 0 0 0 0 272176 chr12 124421891 124421891 A G CCDC92 Nonsynonymous SNV V220A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 272177 chr12 124427943 124427943 C G rs750311683 CCDC92 Synonymous SNV T27T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.94 272178 chr19 21132477 21132477 C G rs773946789 ZNF85 Nonsynonymous SNV T322S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.728 272179 chr12 53823694 53823694 G A rs766690921 AMHR2 Nonsynonymous SNV R407Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 272180 chr12 113873337 113873337 T C rs147912751 SDSL Nonsynonymous SNV L216P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.748 272181 chr3 12581820 12581820 C T rs770746667 MKRN2OS Nonsynonymous SNV V182M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 272182 chr12 21377713 21377713 G T rs778178385 SLCO1B1 Nonsynonymous SNV W602L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 272183 chr12 111729243 111729243 C T rs377178903 CUX2 Nonsynonymous SNV A46V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 8.285 272184 chr19 35590117 35590117 A C HPN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.155 272185 chr12 27951078 27951078 G C KLHL42 Synonymous SNV L499L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.415 272186 chr8 143381907 143381907 G A rs140122939 TSNARE1 Synonymous SNV D191D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.414 272187 chr3 24004067 24004067 C T rs761072035 NR1D2 Synonymous SNV L298L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.151 272188 chr12 120118100 120118100 C T rs777539482 PRKAB1 Synonymous SNV Y261Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.81 272189 chr12 124979793 124979793 G A rs200569241 NCOR2 Nonsynonymous SNV S2L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 272190 chr12 6954779 6954779 G A rs147480203 GNB3 Synonymous SNV T242T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.969 272191 chr8 144945011 144945011 G A rs542331099 EPPK1 Nonsynonymous SNV P804L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.214 272192 chr12 122618293 122618293 C T rs73219856 MLXIP Synonymous SNV P497P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.947 272193 chr12 77449678 77449678 C T rs138309192 E2F7 Nonsynonymous SNV R109Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 272194 chr19 40174377 40174377 C T rs186725340 LGALS17A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.206 272195 chr1 179310169 179310169 G A SOAT1 Synonymous SNV V110V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.97 272196 chr12 124419900 124419900 G A rs775317598 DNAH10 Nonsynonymous SNV V4430I 0 0 0 1 0 0 0.003 0 0 0 0 0 33 272197 chr12 48272819 48272819 C T rs934460570 VDR Synonymous SNV V26V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 272198 chr12 85257265 85257265 T C rs138060449 SLC6A15 Nonsynonymous SNV N484D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 272199 chr12 85546824 85546824 A C rs191782536 LRRIQ1 Nonsynonymous SNV D1481A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 272200 chr8 145677749 145677749 G A CYHR1 Synonymous SNV G272G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.786 272201 chr12 12966306 12966306 C T rs756056430 DDX47 Nonsynonymous SNV A2V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 272202 chr3 45943151 45943151 G A rs201135152 CCR9 Nonsynonymous SNV V279I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 272203 chr12 130907022 130907022 G A rs150831316 RIMBP2 Nonsynonymous SNV R816W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 272204 chr19 4358096 4358096 A G rs940887141 MPND Nonsynonymous SNV Y368C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 272205 chr3 46755903 46755903 T C rs766167362 PRSS50 Nonsynonymous SNV I187V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.77 272206 chr3 47277956 47277956 T C KIF9 Nonsynonymous SNV Q628R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 272207 chr3 48453280 48453280 G A rs201421515 PLXNB1 Nonsynonymous SNV R1747C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 272208 chr3 48613964 48613964 C T rs534242549 COL7A1 Synonymous SNV T1909T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 272209 chr3 48628929 48628929 G T rs200868430 COL7A1 Nonsynonymous SNV T535N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 272210 chr3 49947806 49947806 G A rs149835471 MON1A Synonymous SNV A310A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 272211 chr3 51812643 51812643 G T IQCF6 Nonsynonymous SNV T107N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 272212 chr12 32900270 32900270 G A YARS2 Synonymous SNV V434V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.75 272213 chr19 44988610 44988610 C T rs777069215 ZNF180 Nonsynonymous SNV E30K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 272214 chr12 32975561 32975561 G A rs373360192 PKP2 Nonsynonymous SNV T560M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.6 272215 chr8 23148885 23148885 C T rs748730890 R3HCC1 Synonymous SNV N288N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 272216 chr1 201291257 201291257 T C PKP1 Nonsynonymous SNV M500T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.38 272217 chr3 53911280 53911280 C T rs750074267 ACTR8 Synonymous SNV A215A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.22 272218 chr13 21189953 21189953 T C rs140223976 IFT88 Synonymous SNV Y359Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.679 272219 chr8 33454979 33454979 G A rs114901124 DUSP26 Nonsynonymous SNV R19W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 272220 chr3 65425561 65425563 CTG - rs754983379 MAGI1 Q421del 0 0.003 0 0 0 1 0 0 0 0 0 0 272221 chr19 47969481 47969481 G A rs543178040 SLC8A2 Synonymous SNV P60P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 272222 chr12 64456774 64456774 C T SRGAP1 Synonymous SNV T293T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 272223 chr1 208205038 208205038 C T rs570509541 PLXNA2 Nonsynonymous SNV A1708T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 272224 chr3 88202416 88202416 C T rs769625164 C3orf38 Nonsynonymous SNV A57V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 272225 chr8 61763087 61763087 G A rs368609862 CHD7 Nonsynonymous SNV A1814T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 272226 chr12 66275712 66275712 G T HMGA2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 272227 chr3 99568229 99568229 A G rs202066216 FILIP1L Nonsynonymous SNV I524T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 272228 chr12 48921827 48921827 C T rs200780401 OR8S1 Stop gain Q341X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 272229 chr19 50119403 50119403 C T rs563050549 PRR12 Synonymous SNV N1808N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 272230 chr3 108393009 108393009 G T DZIP3 Nonsynonymous SNV V892L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 272231 chr19 51321811 51321811 G C LINC01869 0 0 0.003 0 0 0 0 1 0 0 0 0 5.934 272232 chr19 52131180 52131180 G A rs151263979 SIGLEC5 Nonsynonymous SNV R302C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 272233 chr19 52207549 52207549 A G SPACA6 Nonsynonymous SNV T253A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.996 272234 chr3 121353172 121353172 G A rs769367326 HCLS1 Nonsynonymous SNV A225V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 272235 chr13 84453666 84453666 G T rs150664551 SLITRK1 Synonymous SNV S659S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.822 272236 chr12 53009049 53009049 T A rs767205770 KRT73-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.368 272237 chr13 99481971 99481971 C T DOCK9 Nonsynonymous SNV G1540S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 272238 chr19 53644427 53644427 C T ZNF347 Nonsynonymous SNV V553M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.185 272239 chr19 53644440 53644440 G - ZNF347 A550Pfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 272240 chr3 126180738 126180738 C T rs191809888 ZXDC Synonymous SNV T589T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.35 272241 chr14 104644975 104644975 C T KIF26A Synonymous SNV D1733D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 272242 chr12 93181731 93181731 T C rs144885435 EEA1 Nonsynonymous SNV Y1021C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.773 272243 chr3 129007830 129007830 G A rs114856369 HMCES Nonsynonymous SNV R106Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 272244 chr9 113169804 113169804 C T rs370137217 SVEP1 Synonymous SNV L2692L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.632 272245 chr12 7045909 7045909 - CAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 272246 chr12 71155384 71155384 A G PTPRR Nonsynonymous SNV L53P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 272247 chr9 120476855 120476855 G A TLR4 Nonsynonymous SNV D617N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 272248 chr13 109779888 109779888 G T rs201341139 MYO16 Synonymous SNV A1347A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.859 272249 chr3 141457268 141457268 A C RNF7 Nonsynonymous SNV M29L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 272250 chr12 6860825 6860825 G T rs771109658 MLF2 Synonymous SNV P66P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.915 272251 chr13 33232430 33232430 C G PDS5B Nonsynonymous SNV P123A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.67 272252 chr12 69983306 69983306 C T CCT2 Nonsynonymous SNV A116V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.2 272253 chr13 23910866 23910866 G A rs17078608 SACS Synonymous SNV R2236R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.16 272254 chr9 127631708 127631708 C T rs373749570 ARPC5L Nonsynonymous SNV L47F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 272255 chr13 24444226 24444226 T C rs771327055 MIPEP Nonsynonymous SNV I238V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.428 272256 chr19 5783676 5783676 G A PRR22 Synonymous SNV P194P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.383 272257 chr9 127990217 127990217 A G rs139394490 RABEPK Synonymous SNV T134T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.117 272258 chr3 169639125 169639125 A G rs748372253 SAMD7 Synonymous SNV P70P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.546 272259 chr13 44455608 44455608 G C LACC1 Nonsynonymous SNV E163Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.08 272260 chr13 26624789 26624789 C T rs530163336 SHISA2 Nonsynonymous SNV G109S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 272261 chr9 130828884 130828884 A C NAIF1 Nonsynonymous SNV V166G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 272262 chr12 99007619 99007619 T G rs766415604 IKBIP Nonsynonymous SNV D266A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 272263 chr14 31614121 31614121 G A rs747454781 HECTD1 Synonymous SNV Y841Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.624 272264 chr19 58880652 58880652 G A ZNF837 Synonymous SNV A16A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.507 272265 chr13 37678543 37678543 A G rs766718454 CSNK1A1L Nonsynonymous SNV L284P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 272266 chr2 17692180 17692180 T G rs779013283 RAD51AP2 Nonsynonymous SNV K1124T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 272267 chr13 77531363 77531363 A C ACOD1 Nonsynonymous SNV Q230P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 272268 chr13 41891040 41891040 C T rs138349089 NAA16 Nonsynonymous SNV S38L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 272269 chr9 134736006 134736006 C T MED27 Synonymous SNV G249G 0.003 0 0 0 3 0 0 0 0 0 0 0 15.92 272270 chr3 187447758 187447758 G A rs149628654 BCL6 Synonymous SNV N145N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.493 272271 chr2 21363096 21363096 A G rs1009897439 TDRD15 Synonymous SNV L919L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.258 272272 chr14 100992221 100992221 C T rs367998247 WDR25 Synonymous SNV Y114Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.231 272273 chr19 8197907 8197907 G A FBN3 Nonsynonymous SNV P559S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.279 272274 chr13 23777841 23777841 G A rs35105771 SGCG Nonsynonymous SNV R3H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.5 272275 chr9 137582889 137582889 G A rs549951334 COL5A1 Nonsynonymous SNV A81T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 272276 chr9 137716498 137716498 G A rs369501428 COL5A1 Nonsynonymous SNV R1584Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27 272277 chr13 103339390 103339390 T C rs150442422 METTL21C Synonymous SNV Q100Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 272278 chr9 139137622 139137622 G C QSOX2 Nonsynonymous SNV R10G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 272279 chr14 64065699 64065699 G A rs141157376 WDR89 Nonsynonymous SNV A321V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.4 272280 chr2 28004616 28004616 - GT RBKS Frameshift insertion L279Tfs*49 0 0 0 1 0 0 0.003 0 0 0 0 0 272281 chr13 103701648 103701648 A G rs61966074 SLC10A2 Nonsynonymous SNV F304L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.205 272282 chr9 139354251 139354251 C T rs202232995 SEC16A Nonsynonymous SNV D1717N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 272283 chr13 31531047 31531047 C T rs372111602 TEX26 Nonsynonymous SNV T117M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.037 272284 chr9 139407561 139407561 G A rs200565505 NOTCH1 Synonymous SNV N793N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.902 272285 chr9 139612131 139612131 C T rs760759094 DIPK1B Nonsynonymous SNV R56C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 272286 chr2 31572992 31572992 G A rs669884 XDH Nonsynonymous SNV T910M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 27.6 272287 chr13 111109251 111109251 - TCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCGTGCA COL4A2-AS2 Q273_T274insMHGISPTDAWGPTQ 0 0 0 1 0 0 0.003 0 0 0 0 0 272288 chr13 32868676 32868676 G A rs370107550 FRY Nonsynonymous SNV G2918S 0 0.003 0 0 0 1 0 0 0 0 0 0 17 272289 chr13 37447016 37447016 T C rs138822893 SMAD9 Nonsynonymous SNV Y150C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.12 272290 chr14 103573156 103573156 G A rs917056606 EXOC3L4 Nonsynonymous SNV E501K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 272291 chr2 42871281 42871281 C T rs1010832129 MTA3 Synonymous SNV Y76Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 272292 chr2 43787476 43787476 C T rs763097281 THADA Nonsynonymous SNV R787H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 272293 chr14 20846380 20846380 C T rs750418565 TEP1 Nonsynonymous SNV G1734R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 272294 chr13 25876007 25876007 G A rs11556094 NUP58 Synonymous SNV T32T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 272295 chr1 108735203 108735203 T C rs766413843 SLC25A24 Nonsynonymous SNV Y14C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.615 272296 chr9 19409107 19409107 C A rs10122075 ACER2 Nonsynonymous SNV Q9K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 272297 chr4 6303626 6303626 G A rs71532862 WFS1 Nonsynonymous SNV G702S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 272298 chr14 81209483 81209483 C T rs756045231 CEP128 Synonymous SNV Q914Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.534 272299 chr2 61304255 61304255 A G rs754940953 KIAA1841 Nonsynonymous SNV N65S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.49 272300 chr13 32885523 32885523 C A ZAR1L Nonsynonymous SNV E180D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 272301 chr14 23072579 23072579 G A ABHD4 Nonsynonymous SNV E133K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.95 272302 chr14 89061126 89061126 A G rs763986704 ZC3H14 Nonsynonymous SNV E19G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.76 272303 chr4 8221133 8221133 G A rs918915931 SH3TC1 Nonsynonymous SNV D254N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 272304 chr14 91755687 91755687 C T rs756684531 CCDC88C Synonymous SNV K1401K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 272305 chr14 23346331 23346331 A T rs762816638 LRP10 Nonsynonymous SNV R579S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.19 272306 chr9 33264660 33264660 C A rs990738136 BAG1 Nonsynonymous SNV G5W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 272307 chr13 39422629 39422629 T A rs114229197 FREM2 Nonsynonymous SNV N2067K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.17 272308 chr1 112299305 112299305 C T rs61755355 DDX20 Synonymous SNV T113T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 272309 chr14 94733364 94733364 C T rs145006647 PPP4R4 Nonsynonymous SNV A735V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 272310 chr14 24839271 24839271 C T rs150527849 NFATC4 Nonsynonymous SNV R223W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 272311 chr4 22389855 22389855 T C ADGRA3 Nonsynonymous SNV M1147V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 272312 chr14 96706782 96706782 C T rs201661317 BDKRB2 Synonymous SNV N39N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.647 272313 chr9 7103838 7103838 A T rs978462376 KDM4C Nonsynonymous SNV T605S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 272314 chr14 31849717 31849717 C T rs774501126 HEATR5A Nonsynonymous SNV R555H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272315 chr1 12632834 12632834 C A rs377156400 DHRS3 Nonsynonymous SNV R164M 0 0 0.007 0 0 0 0 2 0 0 0 0 31 272316 chr1 1268504 1268504 G A TAS1R3 Synonymous SNV Q493Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.268 272317 chr14 50065868 50065868 C T LRR1 Stop gain R44X 0.002 0 0 0 2 0 0 0 0 0 0 0 34 272318 chr4 40155835 40155835 G A N4BP2 Nonsynonymous SNV C1764Y 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 272319 chr14 50074562 50074562 G C rs774080283 LRR1 Nonsynonymous SNV V243L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.24 272320 chr9 85615834 85615834 C T RASEF Nonsynonymous SNV G472R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 272321 chr1 150771722 150771722 C T rs183135762 CTSK Nonsynonymous SNV S271N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.73 272322 chr9 90322029 90322029 G T rs200514264 DAPK1 Nonsynonymous SNV G1348V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.267 272323 chr1 151149487 151149487 A C rs78427992 VPS72 Nonsynonymous SNV V254G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.668 272324 chr4 48343881 48343881 G T rs544036217 SLAIN2 Nonsynonymous SNV G42V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.23 272325 chr14 50579341 50579341 T C rs377516365 VCPKMT Nonsynonymous SNV K223E 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 272326 chr2 103353153 103353153 G - rs759295165 MFSD9 V40Sfs*28 0 0 0 1 0 0 0.003 0 0 0 0 0 272327 chr15 40594181 40594181 C A rs201088044 PLCB2 Nonsynonymous SNV A187S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 272328 chr1 152692523 152692523 C T rs191594967 C1orf68 Nonsynonymous SNV R176W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 272329 chr1 153580155 153580155 C A rs146550187 S100A16 Nonsynonymous SNV R56L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 272330 chr14 104643781 104643781 C T rs770931669 KIF26A Synonymous SNV T1552T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.22 272331 chr14 55817930 55817930 C T rs34847946 FBXO34 Synonymous SNV S274S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.723 272332 chr1 154530834 154530834 G A rs749222548 UBE2Q1 Synonymous SNV L66L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 272333 chr14 65207996 65207996 C G PLEKHG3 Synonymous SNV A587A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.675 272334 chr4 70596340 70596340 C G rs546925597 SULT1B1 Nonsynonymous SNV E219D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.1 272335 chr4 70620463 70620463 C T rs761640326 SULT1B1 Nonsynonymous SNV E68K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 272336 chr14 69676407 69676407 A T EXD2 Nonsynonymous SNV I74F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.769 272337 chr14 24113678 24113678 T C rs144322407 DHRS2 Synonymous SNV L201L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.818 272338 chr14 24529456 24529456 G A rs762233592 CARMIL3 Nonsynonymous SNV A685T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 272339 chr1 15736653 15736653 C T rs779519660 EFHD2 Synonymous SNV R62R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 272340 chr14 92251609 92251609 C A rs759603073 TC2N Nonsynonymous SNV G356V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 272341 chr1 161207840 161207840 T C rs188975149 NR1I3 Nonsynonymous SNV K4R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.124 272342 chr1 161207842 161207842 A G rs181499203 NR1I3 Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.071 272343 chr1 16258935 16258935 C T rs546998631 SPEN Nonsynonymous SNV P2067L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.11 272344 chr4 113199224 113199224 C T rs149765370 TIFA Nonsynonymous SNV V117I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.72 272345 chr4 114294462 114294462 C T rs121912706 ANK2 Nonsynonymous SNV R997W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 272346 chr14 58790307 58790307 C T rs139306325 ARID4A Nonsynonymous SNV T185M 0 0.003 0 0 0 1 0 0 0 0 0 0 17 272347 chr15 101718305 101718305 T C rs774020290 CHSY1 Nonsynonymous SNV K566R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.667 272348 chr15 23891811 23891811 G A rs111759069 MAGEL2 Nonsynonymous SNV A360V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15.94 272349 chr2 172398096 172398096 C G CYBRD1 Synonymous SNV A7A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.38 272350 chr15 73996338 73996338 G A rs146707793 CD276 Nonsynonymous SNV A212T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 272351 chr15 74588241 74588241 A C rs774401065 CCDC33 Synonymous SNV P414P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 272352 chr15 34146601 34146601 T C rs377310965 RYR3 Nonsynonymous SNV I4599T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.1 272353 chr15 75131680 75131680 T C ULK3 Nonsynonymous SNV Q296R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 272354 chr1 179526191 179526191 C G rs146906190 NPHS2 Nonsynonymous SNV E237Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 272355 chr15 77771547 77771547 A T rs201448596 HMG20A Nonsynonymous SNV T312S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 272356 chr4 152054377 152054377 C T rs557050445 SH3D19 Nonsynonymous SNV C517Y 0 0.003 0 0 0 1 0 0 0 0 0 0 31 272357 chr15 33358805 33358805 G C rs200932670 FMN1 Synonymous SNV L427L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.229 272358 chr15 42019491 42019491 C G MGA Nonsynonymous SNV P1182A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 272359 chr10 106124620 106124620 A G rs146524252 CFAP58 Synonymous SNV K190K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.099 272360 chr10 112361765 112361765 G A rs147463420 SMC3 Synonymous SNV K978K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.85 272361 chr1 190707578 190707578 C A rs145662365 LINC01720 0 0 0.003 0 0 0 0 1 0 0 0 0 3.62 272362 chr1 190707587 190707587 C T rs560845247 LINC01720 0 0 0.003 0 0 0 0 1 0 0 0 0 6.699 272363 chr1 190768945 190768945 C A rs7550667 LINC01720 0 0 0.003 0 0 0 0 1 0 0 0 0 7.06 272364 chr1 192778255 192778255 G C rs74466425 RGS2 Nonsynonymous SNV K18N 0 0 0.01 0 0 0 0 3 0 0 0 0 0.053 272365 chr15 86807791 86807791 G A rs751128989 AGBL1 Synonymous SNV P463P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.047 272366 chr15 41136935 41136935 C T SPINT1 Synonymous SNV F61F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 272367 chr15 89074636 89074636 C T rs761657528 DET1 Nonsynonymous SNV E101K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 272368 chr10 116048904 116048904 C T rs775094333 VWA2 Nonsynonymous SNV A593V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.63 272369 chr4 175898940 175898940 T C rs149749808 ADAM29 Nonsynonymous SNV M755T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 272370 chr15 44881541 44881541 A G SPG11 Synonymous SNV L1605L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.553 272371 chr14 88904688 88904688 C T rs763938332 SPATA7 Synonymous SNV G542G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.21 272372 chr14 88983451 88983451 T G rs770218868 PTPN21 Nonsynonymous SNV Q112P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 272373 chr1 201180144 201180144 T G IGFN1 Synonymous SNV P2041P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.135 272374 chr15 48738967 48738967 T C rs141219664 FBN1 Synonymous SNV T1908T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.481 272375 chr1 201688733 201688733 G A rs138079376 MIR5191 0 0 0.01 0 0 0 0 3 0 0 0 0 7.021 272376 chr4 189063618 189063618 G A rs780369509 TRIML1 Synonymous SNV S239S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.281 272377 chr14 77751863 77751863 C A rs267606968 POMT2 Nonsynonymous SNV G482V 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 34 272378 chr1 204118841 204118841 G A rs762532276 ETNK2 Nonsynonymous SNV R170W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 272379 chr15 51350429 51350429 G T rs745796331 TNFAIP8L3 Synonymous SNV I88I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.72 272380 chr5 9202203 9202203 C T rs773047647 SEMA5A Nonsynonymous SNV D266N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 272381 chr14 90455251 90455251 T A TDP1 Synonymous SNV L378L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.04 272382 chr1 207235338 207235338 T C PFKFB2 Synonymous SNV V42V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 272383 chr5 16673854 16673854 C T rs561692106 MYO10 Synonymous SNV T1703T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.78 272384 chr5 16794886 16794886 C A rs779146798 MYO10 Synonymous SNV L112L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.69 272385 chr2 219870908 219870908 C T rs373366169 CFAP65 Nonsynonymous SNV R1586Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.561 272386 chr15 66615043 66615043 A C rs202123708 DIS3L Nonsynonymous SNV N323H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.59 272387 chr2 220164811 220164811 C A rs375552172 PTPRN Synonymous SNV L444L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 272388 chr15 65113399 65113399 G A rs140219128 PIF1 Synonymous SNV T351T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.904 272389 chr14 99865288 99865288 T A SETD3 Nonsynonymous SNV S505C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 272390 chr15 72122637 72122637 G A rs747340403 MYO9A Nonsynonymous SNV R2285C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 272391 chr15 72190050 72190050 G A rs373904653 MYO9A Synonymous SNV D1598D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 272392 chr1 22141124 22141124 T G LDLRAD2 Nonsynonymous SNV C107G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 272393 chr5 41155176 41155176 C G rs184169749 C6 Nonsynonymous SNV D667H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.5 272394 chr15 23086367 23086367 - GCC NIPA1 A16_G17insA 0 0 0 1 0 0 0.003 0 0 0 0 0 272395 chr15 72968546 72968546 G A rs774583212 HIGD2B Nonsynonymous SNV A57V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 272396 chr5 52954398 52954398 A T rs775010441 NDUFS4 Nonsynonymous SNV N123I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 272397 chr16 21652906 21652906 A G rs143990839 IGSF6 Synonymous SNV D225D 0.005 0 0 1 6 0 0.003 0 1 0 0 0 0.007 272398 chr15 81235338 81235338 T C rs148207817 CEMIP Nonsynonymous SNV I1251T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 272399 chr16 23724462 23724462 A T rs374839584 ERN2 Nonsynonymous SNV L16H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 23.3 272400 chr16 27373761 27373761 A C IL4R Nonsynonymous SNV E363A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 272401 chr15 40590138 40590138 T C rs778371900 PLCB2 Nonsynonymous SNV E393G 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 272402 chr15 80414094 80414094 A G rs56296028 ZFAND6 Synonymous SNV Q65Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.765 272403 chr1 228494607 228494607 C A rs570139095 OBSCN Nonsynonymous SNV P3978T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 272404 chr5 74032597 74032597 T A GFM2 Nonsynonymous SNV T512S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.712 272405 chr1 233134063 233134063 C T rs377111420 PCNX2 Nonsynonymous SNV A1909T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.24 272406 chr1 233394368 233394368 T C PCNX2 Nonsynonymous SNV N414D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 272407 chr16 3139106 3139106 C T ZSCAN10 Nonsynonymous SNV E383K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 272408 chr5 78294042 78294042 G A rs201147856 DMGDH Synonymous SNV L822L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.197 272409 chr15 89390492 89390492 G A rs200950723 ACAN Nonsynonymous SNV R483H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 272410 chr15 55663993 55663993 T C rs74438085 CCPG1 Nonsynonymous SNV Y235C 0 0.005 0 0 0 2 0 0 0 0 0 0 27 272411 chr5 81474369 81474369 G T rs139687676 ATG10 Nonsynonymous SNV R139L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 272412 chr15 59911215 59911215 C G rs145755021 GCNT3 Nonsynonymous SNV H260D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 272413 chr15 60297371 60297371 G A FOXB1 Nonsynonymous SNV C70Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 272414 chr1 238090544 238090544 G A rs540835617 LOC100130331 0 0 0.003 0 0 0 0 1 0 0 0 0 5.024 272415 chr15 62315982 62315982 T C rs150832196 VPS13C Nonsynonymous SNV K171E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.79 272416 chr15 62360629 62360629 C T rs569649316 C2CD4A Nonsynonymous SNV R273W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 272417 chr1 242020650 242020650 G T rs147663824 EXO1 Nonsynonymous SNV A137S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 272418 chr15 63932452 63932452 T C rs372306188 HERC1 Nonsynonymous SNV I3934V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.378 272419 chr15 98995133 98995133 C T FAM169B Synonymous SNV L97L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.069 272420 chr15 65678207 65678207 C T IGDCC4 Nonsynonymous SNV G1048S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 272421 chr16 55613152 55613152 C T LPCAT2 Synonymous SNV S482S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 272422 chr15 65942932 65942932 C T rs185027365 SLC24A1 Synonymous SNV H142H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.44 272423 chr5 102309957 102309957 G A PAM Nonsynonymous SNV D434N 0 0.003 0 0 0 1 0 0 0 0 0 0 25 272424 chr1 247587174 247587174 C T rs56710146 NLRP3 Synonymous SNV Y143Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.639 272425 chr16 56914084 56914084 G C SLC12A3 Nonsynonymous SNV G496R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 272426 chr16 11349255 11349255 G C SOCS1 Synonymous SNV S27S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.766 272427 chr16 11773599 11773599 G A TXNDC11 Nonsynonymous SNV P325S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 272428 chr15 59430452 59430452 C G MYO1E Nonsynonymous SNV Q1065H 0 0 0 1 0 0 0.003 0 0 0 0 0 31 272429 chr15 71146271 71146271 C T LARP6 Nonsynonymous SNV G53S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 272430 chr3 19322809 19322809 G A rs767383250 KCNH8 Nonsynonymous SNV D144N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 272431 chr5 121356371 121356371 T C rs201133756 SRFBP1 Nonsynonymous SNV F314S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.11 272432 chr16 1394609 1394609 C A BAIAP3 Nonsynonymous SNV P520Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 272433 chr15 74241877 74241877 A G LOXL1 Synonymous SNV T560T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.861 272434 chr1 248569587 248569587 C T rs144371094 OR2T1 Synonymous SNV L98L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.85 272435 chr16 67289748 67289748 C T rs533360234 SLC9A5 Nonsynonymous SNV R175C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 272436 chr16 67314182 67314182 T C rs748177882 PLEKHG4 Nonsynonymous SNV S79P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.157 272437 chr15 67813594 67813594 C T rs1048440313 C15orf61 Nonsynonymous SNV A3V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.667 272438 chr3 36933754 36933754 T G rs767641649 TRANK1 Synonymous SNV A194A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 272439 chr15 75650916 75650916 C T rs142680980 MAN2C1 Nonsynonymous SNV E665K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.369 272440 chr16 1706729 1706729 C T rs557289381 CRAMP1 Synonymous SNV A657A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 272441 chr3 39228690 39228690 G A XIRP1 Synonymous SNV N749N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.052 272442 chr10 75394401 75394401 C T rs139908512 MYOZ1 Nonsynonymous SNV G115S 0.003 0 0 0 3 0 0 0 0 0 0 0 7.268 272443 chr5 139493793 139493793 G A PURA Synonymous SNV E9E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.207 272444 chr5 140166646 140166646 T C rs781966484 PCDHA1 Synonymous SNV N257N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.1 272445 chr1 3328903 3328903 G A rs200167919 PRDM16 Synonymous SNV K714K 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.633 272446 chr1 33790559 33790559 C A rs199797168 PHC2 Synonymous SNV L293L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 272447 chr1 34666389 34666391 CAA - C1orf94 K343del 0 0 0.003 0 0 0 0 1 0 0 0 0 272448 chr16 27506640 27506640 G A rs761543650 GTF3C1 Nonsynonymous SNV R842W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 272449 chr5 140725882 140725882 C A rs771032536 PCDHGA3 Nonsynonymous SNV A761E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 272450 chr16 78148952 78148952 C A rs750226191 WWOX Synonymous SNV R104R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.23 272451 chr3 46719793 46719793 C A ALS2CL Synonymous SNV L571L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.72 272452 chr16 27475829 27475829 G A rs556238234 GTF3C1 Nonsynonymous SNV P1895L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.167 272453 chr3 48453993 48453993 C G rs752317700 PLXNB1 Nonsynonymous SNV A1631P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 272454 chr16 82197741 82197741 T G MPHOSPH6 Nonsynonymous SNV K37T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.7 272455 chr3 48719562 48719582 GTGGGATCTGGGAAGATGGAA - rs764315382 NCKIPSD I163Hfs*15 0 0 0 1 0 0 0.003 0 0 0 0 0 272456 chr16 84213607 84213607 C G rs770172623 TAF1C Synonymous SNV L216L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 272457 chr5 150051168 150051168 G A rs777196149 MYOZ3 Nonsynonymous SNV G76R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.85 272458 chr16 3142222 3142222 C T rs745644036 ZSCAN10 Synonymous SNV K164K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 10.76 272459 chr16 3168934 3168934 C T rs145879319 ZNF205 Synonymous SNV A171A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.52 272460 chr1 46650068 46650068 C T rs372580265 TSPAN1 Nonsynonymous SNV T88M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 272461 chr1 47101568 47101568 C A rs149829714 ATPAF1 Synonymous SNV G244G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 272462 chr16 85682220 85682220 G T GSE1 Nonsynonymous SNV A24S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 272463 chr5 150887061 150887061 C T rs138553780 FAT2 Synonymous SNV A4057A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 272464 chr3 52426911 52426911 C T rs200295282 DNAH1 Synonymous SNV P3448P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.04 272465 chr16 11001672 11001672 G C CIITA Nonsynonymous SNV G775R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.755 272466 chr16 88600773 88600773 C T rs755947526 ZFPM1 Nonsynonymous SNV R803C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 272467 chr16 11367446 11367446 A G rs200849593 PRM3 Nonsynonymous SNV S3P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 272468 chr5 154394886 154394886 T G rs776561752 KIF4B Nonsynonymous SNV D489E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 272469 chr16 46766447 46766447 C T rs760783642 MYLK3 Nonsynonymous SNV G38R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.108 272470 chr15 99452048 99452048 G T rs187980012 IGF1R Nonsynonymous SNV R461L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 272471 chr16 53682981 53682981 G T RPGRIP1L Nonsynonymous SNV F733L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 272472 chr16 11862948 11862948 A G rs368634676 ZC3H7A Nonsynonymous SNV L371P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 272473 chr1 63008293 63008293 A G rs770299891 DOCK7 Nonsynonymous SNV F980L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 272474 chr16 89836600 89836600 G A rs751572448 FANCA Nonsynonymous SNV R764W 0.001 0 0 0 1 0 0 0 0 0 0 0 26 272475 chr16 56857697 56857697 C T rs765711298 NUP93 Nonsynonymous SNV R122C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272476 chr17 10265543 10265543 G A MYH13 Nonsynonymous SNV P133S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 272477 chr5 176315413 176315413 G A rs199583131 HK3 Synonymous SNV S408S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.518 272478 chr16 57734173 57734173 T C rs116083646 DRC7 Synonymous SNV P165P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.789 272479 chr16 57761248 57761248 C T rs113808967 DRC7 Nonsynonymous SNV A643V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.31 272480 chr5 176813455 176813455 C T rs200188041 SLC34A1 Synonymous SNV N140N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 272481 chr16 57937811 57937811 G A rs773455825 CNGB1 Synonymous SNV Y897Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.861 272482 chr17 11711079 11711079 G A rs142271550 DNAH9 Synonymous SNV P2817P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 272483 chr16 1537546 1537546 C T rs759389710 PTX4 Synonymous SNV L184L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.093 272484 chr3 111312668 111312668 G A rs143138825 ZBED2 Synonymous SNV H127H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.992 272485 chr17 1416840 1416840 G C rs766727258 INPP5K Nonsynonymous SNV N56K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 272486 chr16 2052235 2052235 G A rs374735389 ZNF598 Synonymous SNV Y289Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.384 272487 chr16 66611071 66611071 A G rs769414970 CKLF-CMTM1, CMTM1 Nonsynonymous SNV E48G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 272488 chr16 1877793 1877793 T C rs369979388 FAHD1 Nonsynonymous SNV I188T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 272489 chr1 86334214 86334214 T G rs777964584 COL24A1 Nonsynonymous SNV Q396H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 272490 chr17 1795190 1795190 A G rs759325882 RPA1 Nonsynonymous SNV I480V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 272491 chr6 5613418 5613418 C T rs751459058 FARS2 Nonsynonymous SNV P361L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.5 272492 chr17 1840922 1840922 C T rs375704646 RTN4RL1 Nonsynonymous SNV R65H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 272493 chr16 24788665 24788665 G A rs771019356 TNRC6A Nonsynonymous SNV S192N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.73 272494 chr16 24946953 24946953 T C ARHGAP17 Nonsynonymous SNV K500E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 272495 chr6 19838192 19838192 C T rs143397929 ID4 Synonymous SNV N69N 0.002 0.005 0 0 2 2 0 0 0 0 0 0 16.15 272496 chr1 934491 934491 G C rs972445502 HES4 Nonsynonymous SNV P231R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 272497 chr16 30991810 30991810 C T rs764112492 SETD1A Synonymous SNV T1471T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.34 272498 chr16 78466550 78466550 C T rs144417100 WWOX Synonymous SNV N206N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.18 272499 chr16 81118183 81118183 C A GCSH Nonsynonymous SNV L103F 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 272500 chr6 26225512 26225512 C T rs138951289 H3C6 Nonsynonymous SNV P44S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 272501 chr1 9667630 9667631 CT - TMEM201 S393Cfs*80 0 0 0.003 0 0 0 0 1 0 0 0 0 272502 chr3 127396015 127396015 G C rs74393644 ABTB1 Synonymous SNV A74A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 2.733 272503 chr3 127396358 127396358 C T rs141217058 ABTB1 Synonymous SNV C129C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.69 272504 chr17 25904614 25904614 T C rs758402408 KSR1 Nonsynonymous SNV C157R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 272505 chr16 83994276 83994276 A G rs778321311 OSGIN1 Nonsynonymous SNV M103V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 272506 chr20 17640802 17640802 G A rs368179898 RRBP1 Synonymous SNV I117I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.123 272507 chr16 86588932 86588932 C T rs973481456 FLJ30679 0.001 0 0 0 1 0 0 0 0 0 0 0 4.028 272508 chr16 87369836 87369836 C T FBXO31 Nonsynonymous SNV R256H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 272509 chr20 23029753 23029753 G A rs779956574 THBD Nonsynonymous SNV A130V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.507 272510 chr16 88706460 88706460 G A rs201546400 IL17C Nonsynonymous SNV V192M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 272511 chr16 88804629 88804629 C T rs747704297 LOC100289580 0.002 0 0 0 2 0 0 0 0 0 0 0 7.934 272512 chr17 35486327 35486327 C T rs765097577 ACACA Nonsynonymous SNV D1875N 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272513 chr16 50753858 50753858 G C rs759456303 NOD2 Nonsynonymous SNV A858P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 272514 chr3 150690397 150690397 C T CLRN1 Stop gain W33X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 272515 chr20 31571628 31571628 T C rs748123088 SUN5 Nonsynonymous SNV H371R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 272516 chr16 57983285 57983285 C T CNGB1 Nonsynonymous SNV E359K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 272517 chr6 43746204 43746204 G A rs367757959 VEGFA Nonsynonymous SNV R288Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 272518 chr3 157318156 157318156 T - SLC66A1L F130Lfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 272519 chr6 46047492 46047492 A G rs1016762252 CLIC5 Nonsynonymous SNV L163S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.025 272520 chr16 601320 601320 C G rs145916590 CAPN15 Synonymous SNV S695S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.825 272521 chr3 164737452 164737452 C T rs748355409 SI Nonsynonymous SNV A1121T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.35 272522 chr16 66613586 66613586 G A CMTM2 Nonsynonymous SNV E26K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.487 272523 chr17 38512391 38512391 G C RARA Synonymous SNV G337G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.736 272524 chr17 38633854 38633854 C T rs72819644 TNS4 Nonsynonymous SNV A712T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.229 272525 chr16 67985878 67985878 G C SLC12A4 Nonsynonymous SNV A329G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 272526 chr17 10322281 10322281 T C rs144036067 MYH8 Nonsynonymous SNV M93V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.86 272527 chr3 173996967 173996967 G A rs759236717 NLGN1 Synonymous SNV G392G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.171 272528 chr17 1551708 1551708 G C RILP Nonsynonymous SNV Q253E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 272529 chr20 39991371 39991371 C T EMILIN3 Nonsynonymous SNV E280K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 272530 chr20 43837187 43837187 C T rs145325570 SEMG1 Synonymous SNV L417L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.997 272531 chr17 16472488 16472488 T G ZNF287 Synonymous SNV R13R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.167 272532 chr20 44333599 44333599 C - WFDC10B S11Mfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 272533 chr17 1670281 1670281 C G rs997267726 SERPINF1 Nonsynonymous SNV P26R 0.003 0 0 0 3 0 0 0 0 0 0 0 4.501 272534 chr6 72968800 72968800 A G RIMS1 Synonymous SNV L486L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 272535 chr6 74192183 74192183 G A rs780923379 MTO1 Nonsynonymous SNV A493T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 272536 chr20 5170792 5170792 G A rs137924546 CDS2 Nonsynonymous SNV R417Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 272537 chr17 19265992 19265992 C T rs117169107 B9D1 Nonsynonymous SNV A15T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.33 272538 chr17 19284071 19284071 G C rs2233074 MAPK7 Synonymous SNV L44L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.446 272539 chr17 19284650 19284650 C T rs2233075 MAPK7 Synonymous SNV R237R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.29 272540 chr17 19286463 19286463 C T rs2233083 MAPK7 Synonymous SNV A651A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.78 272541 chr17 40734156 40734156 C T rs141966783 RETREG3 Nonsynonymous SNV R359H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.05 272542 chr20 57766455 57766455 C A rs138229512 ZNF831 Synonymous SNV G127G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.3 272543 chr20 57769001 57769001 G A rs202026682 ZNF831 Nonsynonymous SNV R976Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 272544 chr6 90461222 90461222 A G rs372396250 MDN1 Nonsynonymous SNV I1052T 0 0.005 0 0 0 2 0 0 0 0 0 0 21.6 272545 chr17 42477425 42477425 G A GPATCH8 Nonsynonymous SNV R596W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 272546 chr17 42756295 42756295 C G rs760437694 CCDC43 Nonsynonymous SNV D202H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 272547 chr17 2290904 2290904 C T rs755234076 MNT Nonsynonymous SNV R347Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 272548 chr17 26722948 26722948 G A rs557710063 SARM1 Nonsynonymous SNV G649S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 272549 chr17 27044596 27044596 C T RAB34 Nonsynonymous SNV R44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 272550 chr20 60988964 60988964 G A rs377275739 RBBP8NL Synonymous SNV S481S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.835 272551 chr16 88664668 88664668 C T rs766382657 ZC3H18 Synonymous SNV A257A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 272552 chr16 88694088 88694088 G A rs146097985 ZC3H18 Nonsynonymous SNV A723T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 272553 chr20 61444633 61444633 G A rs75570150 OGFR Nonsynonymous SNV E556K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.151 272554 chr16 85143949 85143949 C T rs146980409 FAM92B Synonymous SNV A46A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.729 272555 chr16 85813406 85813406 C T rs754565994 EMC8 Nonsynonymous SNV E181K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 272556 chr6 116442846 116442846 C T rs941747228 COL10A1 Nonsynonymous SNV G145R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 272557 chr17 47230188 47230188 T - rs758807864 B4GALNT2 L127Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 272558 chr17 47376050 47376050 C T rs775915775 ZNF652 Nonsynonymous SNV V516I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 272559 chr20 62607130 62607130 C A rs140982741 SAMD10 Nonsynonymous SNV Q167H 0.001 0 0.007 2 1 0 0.005 2 0 0 0 0 21.8 272560 chr17 3518675 3518675 A G rs754334515 SHPK Nonsynonymous SNV L327P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 272561 chr16 88793155 88793155 C T rs185326407 PIEZO1 Nonsynonymous SNV V1223I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 25.4 272562 chr17 53014528 53014528 G A rs199889989 TOM1L1 Nonsynonymous SNV R248Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.109 272563 chr16 89180850 89180850 G A rs145285434 ACSF3 Nonsynonymous SNV G96S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 272564 chr16 89575003 89575003 C G rs1050875817 SPG7 Nonsynonymous SNV L60V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.052 272565 chr17 38906742 38906742 G C rs149839051 KRT25 Synonymous SNV V355V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.08 272566 chr17 38911256 38911256 G A rs145681444 KRT25 Synonymous SNV L90L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 9.085 272567 chr17 62401200 62401200 C T rs781899608 PECAM1 Synonymous SNV T10T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 272568 chr4 15964521 15964521 G T FGFBP2 Nonsynonymous SNV P78T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 272569 chr4 15991393 15991393 T C PROM1 Nonsynonymous SNV I671V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 272570 chr21 37623511 37623511 G C rs776552195 DOP1B Nonsynonymous SNV G1684R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 272571 chr17 20946050 20946050 G A rs868130952 USP22 Synonymous SNV N33N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 272572 chr21 42551262 42551262 G T rs111213042 PLAC4 0 0 0.003 0 0 0 0 1 0 0 0 0 2.025 272573 chr21 43557627 43557627 C T rs202039537 UMODL1 Nonsynonymous SNV A1341V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.36 272574 chr21 43829645 43829645 G C rs535294130 UBASH3A Nonsynonymous SNV E94D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.263 272575 chr21 44513272 44513272 G A rs777157661 U2AF1, U2AF1L5 Synonymous SNV G221G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.708 272576 chr17 27187546 27187546 G A rs144938973 ERAL1 Nonsynonymous SNV R347H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.87 272577 chr17 41599478 41599478 T C rs766350228 DHX8 Synonymous SNV S1018S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.471 272578 chr17 40997539 40997539 G - rs752679649 AOC2 N300Tfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 272579 chr21 45978293 45978293 A G rs113269424 KRTAP10-3 Synonymous SNV P102P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 272580 chr17 72840610 72840610 C G GRIN2C Synonymous SNV G796G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 272581 chr17 31039082 31039082 C T rs750758460 MYO1D Nonsynonymous SNV R682Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 272582 chr17 73221261 73221261 G A rs779855513 NUP85 Nonsynonymous SNV D175N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 272583 chr21 46951385 46951385 G T SLC19A1 Nonsynonymous SNV H249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 272584 chr21 47419105 47419105 G A COL6A1 Synonymous SNV K571K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 272585 chr21 47552089 47552089 A C rs141233891 COL6A2 Nonsynonymous SNV S895R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.75 272586 chr17 73492497 73492497 G C rs762421195 TMEM94 Nonsynonymous SNV C1073S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 272587 chr21 47671481 47671483 TGC - rs773096364 MCM3AP S1417del 0 0 0.003 0 0 0 0 1 0 0 0 0 272588 chr17 73760073 73760073 C T rs572575400 GALK1 Nonsynonymous SNV R87Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 272589 chr17 33749461 33749461 A G SLFN12 Nonsynonymous SNV L196S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 272590 chr7 4862121 4862121 G C rs200038398 RADIL Nonsynonymous SNV L507V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.93 272591 chr17 26937500 26937500 G A rs934093541 RSKR Nonsynonymous SNV A410V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.76 272592 chr17 46879002 46879002 C A TTLL6 Nonsynonymous SNV R122L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 272593 chr17 76116857 76116857 C T rs146998467 TMC6 Nonsynonymous SNV R531H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 272594 chr17 76480966 76480966 T C rs190811861 DNAH17 Nonsynonymous SNV M2545V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 272595 chr17 76490694 76490694 C T rs148957596 DNAH17 Nonsynonymous SNV R2084Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 272596 chr17 4722780 4722780 G A rs376639390 PLD2 Nonsynonymous SNV V789M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 272597 chr17 34261840 34261840 C T rs113753865 LYZL6 Nonsynonymous SNV R136Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.3 272598 chr7 23224701 23224701 G A rs781615275 NUP42 Nonsynonymous SNV R45H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 272599 chr7 23340611 23340611 C - rs754895935 MALSU1 M138Wfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 272600 chr7 24784344 24784344 C T rs746220504 GSDME Nonsynonymous SNV E81K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 272601 chr17 56320370 56320370 C G rs8178291 LPO Synonymous SNV L10L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.33 272602 chr17 56349207 56349207 A G rs35314437 MPO Synonymous SNV T613T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 272603 chr17 36714513 36714513 C T rs371782190 SRCIN1 Synonymous SNV E717E 0 0 0 1 0 0 0.003 0 0 0 0 0 19.03 272604 chr22 30975162 30975162 G C rs139112920 PES1 Nonsynonymous SNV R490G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 272605 chr17 56386164 56386164 A G rs147996224 TSPOAP1 Nonsynonymous SNV L1430P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 272606 chr17 36876627 36876627 G C rs753399791 MLLT6 Nonsynonymous SNV V720L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 272607 chr17 79526342 79526342 C T rs201724783 NPLOC4 Synonymous SNV T595T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 272608 chr17 79632592 79632592 G T rs111959393 OXLD1 Nonsynonymous SNV P28Q 0.003 0 0.003 0 3 0 0 1 0 0 0 0 0.234 272609 chr17 79639666 79639666 C T rs112699648 CCDC137 Nonsynonymous SNV R268W 0.003 0 0.003 0 3 0 0 1 0 0 0 0 24.4 272610 chr4 106197477 106197477 C T TET2 Nonsynonymous SNV P1937L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 272611 chr17 38133271 38133271 C T rs749451414 GSDMA Nonsynonymous SNV A433V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 272612 chr17 60765684 60765684 G A rs143813537 MRC2 Nonsynonymous SNV R994Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 272613 chr17 61513509 61513509 C T rs35447397 CYB561 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.81 272614 chr17 61564046 61564046 G T rs35553988 ACE Synonymous SNV R155R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.169 272615 chr17 62492965 62492965 C T rs146504115 POLG2 Nonsynonymous SNV G41E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.44 272616 chr7 43622979 43622979 T C rs1028481524 STK17A Nonsynonymous SNV I46T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.92 272617 chr17 64881324 64881324 C T rs73335104 CACNG5 Synonymous SNV P265P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 272618 chr17 65052180 65052180 G A rs114830174 CACNG1 Synonymous SNV S154S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 272619 chr17 65850290 65850290 T C BPTF Nonsynonymous SNV M283T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 272620 chr17 4457134 4457134 G C rs200728167 MYBBP1A Nonsynonymous SNV R178G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.477 272621 chr22 43459821 43459821 C T rs141850809 TTLL1 Nonsynonymous SNV G249R 0 0 0.003 0 0 0 0 1 0 0 0 0 35 272622 chr17 67189302 67189302 G A rs75656517 ABCA10 Stop gain R577X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272623 chr17 7004966 7004966 G A rs35314842 ASGR2 Synonymous SNV N269N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 272624 chr17 71080981 71080981 C T rs78761885 SLC39A11 Nonsynonymous SNV R38Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 272625 chr7 51096591 51096591 G A rs147831221 COBL Synonymous SNV D734D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 272626 chr22 46930759 46930759 G A rs746455154 CELSR1 Nonsynonymous SNV S770L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.181 272627 chr17 72233586 72233586 G A rs149032982 TTYH2 Nonsynonymous SNV V169M 0.003 0 0 0 3 0 0 0 0 0 0 0 1.686 272628 chr17 72345476 72345476 C T rs756060744 KIF19 Nonsynonymous SNV R401C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 272629 chr7 56169527 56169527 C T CHCHD2 Synonymous SNV L159L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 272630 chr22 50020539 50020539 A G rs113891019 C22orf34 Nonsynonymous SNV C2R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.491 272631 chr22 50181097 50181097 C T rs140147452 BRD1 Nonsynonymous SNV R928Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 272632 chr18 29867461 29867461 G C rs777789766 GAREM1 Nonsynonymous SNV H367D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 272633 chr17 7222471 7222471 G A rs59283740 NEURL4 Synonymous SNV I1192I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.08 272634 chr22 50484310 50484310 G A rs756474612 TTLL8 Synonymous SNV T197T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 272635 chr7 66413680 66413680 G A rs141192385 TMEM248 Nonsynonymous SNV V199I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.89 272636 chr7 70255763 70255763 G A rs148333633 AUTS2 Synonymous SNV P1163P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.254 272637 chr7 73474308 73474308 G A rs41523046 ELN Nonsynonymous SNV V422M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 16.81 272638 chr7 73535337 73535337 T A rs178412 LIMK1 Nonsynonymous SNV F546Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 25.1 272639 chr17 7259989 7259989 T C rs80273373 TMEM95 Synonymous SNV G187G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.033 272640 chr4 174254747 174254747 G A rs138727767 HMGB2 Synonymous SNV F18F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.18 272641 chr17 73886937 73886937 C T rs374109368 TRIM65 Nonsynonymous SNV E471K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 272642 chr17 72959074 72959074 G A rs200188260 HID1 Nonsynonymous SNV R164W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 272643 chr7 84642152 84642152 G A rs754910513 SEMA3D Nonsynonymous SNV R572C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 272644 chr4 183673010 183673010 C T rs570729561 TENM3 Synonymous SNV Y1229Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.698 272645 chr4 183710362 183710362 G A rs201388266 TENM3 Synonymous SNV P1807P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.942 272646 chr17 73831953 73831953 G A rs75366116 UNC13D Nonsynonymous SNV R527W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24 272647 chr17 74013933 74013933 G A rs142143003 EVPL Nonsynonymous SNV R555W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 272648 chr17 7405853 7405853 G T rs148495191 POLR2A Synonymous SNV R863R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.909 272649 chr2 114482993 114482993 G A SLC35F5 Synonymous SNV G398G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 272650 chr2 11800178 11800178 G A rs377014236 NTSR2 Nonsynonymous SNV A327V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.675 272651 chr17 78063948 78064043 GAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCAC - CCDC40 Q951_T982del 0.001 0 0 0 1 0 0 0 0 0 0 0 272652 chr17 78261934 78261934 G A rs148613334 RNF213 Synonymous SNV P194P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.857 272653 chr17 78319038 78319038 G A rs147469449 RNF213 Synonymous SNV E2301E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.74 272654 chr17 79496095 79496095 C T rs200332556 FSCN2 Nonsynonymous SNV R180W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.1 272655 chr17 71228239 71228239 C T rs150645939 FAM104A Synonymous SNV E69E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.22 272656 chr18 77170455 77170455 G A rs143142544 NFATC1 Synonymous SNV T60T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.331 272657 chr2 145162410 145162410 T C rs752969423 ZEB2 Synonymous SNV E171E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 272658 chr2 148710084 148710084 G A ORC4 Nonsynonymous SNV T65I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 272659 chr2 152320454 152320454 C G rs762057556 RIF1 Nonsynonymous SNV L1474V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 272660 chr17 80789037 80789037 C G rs145716788 ZNF750 Nonsynonymous SNV D432H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 272661 chr17 8012511 8012511 T C rs3027205 ALOXE3 Nonsynonymous SNV I514V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.74 272662 chr17 8647891 8647891 C T rs748455640 CCDC42 Nonsynonymous SNV E13K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 33 272663 chr17 8656648 8656648 C G SPDYE4 Nonsynonymous SNV E215D 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 272664 chr7 100686915 100686915 C T rs770464056 MUC17 Nonsynonymous SNV T4073I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.47 272665 chr7 100883449 100883449 C T rs11974041 FIS1 Nonsynonymous SNV R112Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 272666 chr18 12277235 12277235 G A rs146146065 CIDEA Nonsynonymous SNV R209Q 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.427 272667 chr17 8273654 8273654 G A rs74532943 KRBA2 Nonsynonymous SNV P11S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 272668 chr17 8638810 8638810 C T rs113726847 CCDC42 Synonymous SNV A204A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.72 272669 chr17 8656741 8656741 G A rs142364566 SPDYE4 Synonymous SNV Y184Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.743 272670 chr17 7099859 7099859 C T rs759308184 DLG4 Synonymous SNV E313E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 272671 chr19 11136987 11136987 C T rs765269922 SMARCA4 Synonymous SNV S1060S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.57 272672 chr19 11168975 11168975 C T SMARCA4 Nonsynonymous SNV S1460L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.1 272673 chr7 107746309 107746309 G A rs201628267 LAMB4 Nonsynonymous SNV R275C 0.003 0.005 0 2 4 2 0.005 0 0 0 0 0 24.3 272674 chr17 71334791 71334791 G A rs757231252 SDK2 Nonsynonymous SNV R2152C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 272675 chr7 113517825 113517825 G T rs757512723 PPP1R3A Nonsynonymous SNV L1108I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 272676 chr19 11557933 11557933 C T rs201337319 PRKCSH Synonymous SNV Y269Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.159 272677 chr18 19080086 19080086 C G rs764201914 GREB1L Nonsynonymous SNV A1263G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 272678 chr7 122342131 122342131 C T rs202200728 RNF148 Nonsynonymous SNV R225Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.589 272679 chr7 127669278 127669278 C A rs369764530 LRRC4 Nonsynonymous SNV K472N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 272680 chr2 179485846 179485846 G C rs201057307 TTN Nonsynonymous SNV A6135G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 272681 chr19 13397326 13397326 C T rs369742607 CACNA1A Nonsynonymous SNV V1183I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.81 272682 chr17 7399797 7399797 G A rs758743434 POLR2A Synonymous SNV K134K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.461 272683 chr17 78185877 78185877 G A rs759810426 SGSH Synonymous SNV S314S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.928 272684 chr17 78220405 78220405 G T rs137973400 SLC26A11 Synonymous SNV P417P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 13.77 272685 chr7 138333782 138333782 C T rs765885083 SVOPL Nonsynonymous SNV G60D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 272686 chr18 32920577 32920577 A G rs775237703 ZNF24 Nonsynonymous SNV I13T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 272687 chr2 1895908 1895908 C A rs761058752 MYT1L Synonymous SNV A728A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 272688 chr19 17100516 17100516 G A rs781674979 CPAMD8 Synonymous SNV L444L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.561 272689 chr17 80544055 80544201 GGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG - FOXK2 Stop gain G519* 0 0.003 0 0 0 1 0 0 0 0 0 0 272690 chr18 60497340 60497340 T C rs901731549 PHLPP1 Nonsynonymous SNV M550T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.32 272691 chr17 8157283 8157283 C T rs183954034 PFAS Nonsynonymous SNV R10C 0 0.003 0 0 0 1 0 0 0 0 0 0 24 272692 chr17 77770759 77770759 G C CBX8 Synonymous SNV A13A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 272693 chr17 77808985 77808985 G A rs201600717 CBX4 Synonymous SNV Y152Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.412 272694 chr2 211471499 211471499 G A rs753441052 CPS1 Nonsynonymous SNV E676K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 272695 chr18 72345352 72345352 G A rs182062444 ZNF407 Nonsynonymous SNV G793R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 272696 chr18 74778295 74778295 C T MBP Nonsynonymous SNV G33D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.354 272697 chr19 18542630 18542630 C T SSBP4 Nonsynonymous SNV P153S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 272698 chr18 76752311 76752311 C G SALL3 Nonsynonymous SNV A107G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.28 272699 chr19 19337607 19337607 C T rs758282635 NCAN Nonsynonymous SNV T462I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 272700 chr19 19606965 19606965 C T rs45580736 GATAD2A Synonymous SNV I287I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 17.24 272701 chr18 9124955 9124955 A G rs377456305 NDUFV2 Nonsynonymous SNV M185V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.2 272702 chr19 23328896 23328896 C T rs189866741 ZNF730 Synonymous SNV N350N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.217 272703 chr19 23329076 23329076 C A rs187241330 ZNF730 Nonsynonymous SNV H410Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.216 272704 chr2 225907004 225907004 C T rs567526383 DOCK10 Nonsynonymous SNV A30T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 272705 chr19 31039922 31039922 C A rs748606016 ZNF536 Nonsynonymous SNV N1132K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 272706 chr5 139266930 139266930 G A rs768692615 NRG2 Synonymous SNV N289N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.59 272707 chr18 12802064 12802064 C T rs201045955 PTPN2 Synonymous SNV G286G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.54 272708 chr8 15601096 15601096 G A rs17121892 TUSC3 Synonymous SNV S304S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.11 272709 chr2 230127471 230127471 A G rs373841889 PID1 Synonymous SNV C17C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 272710 chr18 19153475 19153475 G A rs146713905 ESCO1 Nonsynonymous SNV H444Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 272711 chr18 20576421 20576421 C T rs186820592 RBBP8 Nonsynonymous SNV T675I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 272712 chr18 21478719 21478719 C T LAMA3 Synonymous SNV Y268Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.691 272713 chr12 132403768 132403768 G A rs757910714 ULK1 Synonymous SNV T841T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.08 272714 chr2 233399884 233399884 C T rs145857136 CHRND Synonymous SNV L278L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.78 272715 chr19 35612216 35612216 T C rs748330462 FXYD3 Nonsynonymous SNV I55T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.429 272716 chr12 133198483 133198483 G A rs935024662 P2RX2, P2RX2 Synonymous SNV Q375Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.542 272717 chr19 1440171 1440171 G A rs367617949 RPS15 Synonymous SNV R81R 0.003 0 0 0 3 0 0 0 0 0 0 0 2.94 272718 chr19 36536782 36536782 G A rs558425274 LOC101927572 Nonsynonymous SNV R124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.645 272719 chr18 48333178 48333178 T C MRO Nonsynonymous SNV N48D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 272720 chr19 16688159 16688159 G A rs764499531 MED26 Nonsynonymous SNV P161L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 272721 chr19 15366956 15366956 A G BRD4 Nonsynonymous SNV V557A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 272722 chr2 242615571 242615571 C G rs528558803 DTYMK Nonsynonymous SNV E161Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 272723 chr18 77797400 77797400 C T rs138368263 RBFA Nonsynonymous SNV A91V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.529 272724 chr18 56002732 56002732 C T rs200565814 NEDD4L Nonsynonymous SNV A242V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.2 272725 chr2 25875493 25875493 C A DTNB Nonsynonymous SNV A13S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 272726 chr18 8796385 8796385 C T rs765807545 MTCL1 Synonymous SNV Y722Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 272727 chr18 56964093 56964093 C T rs144069269 CPLX4 Nonsynonymous SNV R107Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 272728 chr2 27167536 27167536 A G rs200305979 DPYSL5 Nonsynonymous SNV R485G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 272729 chr7 138522695 138522695 G A KIAA1549 Nonsynonymous SNV R1937W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272730 chr8 62416016 62416016 C T rs147092046 ASPH Nonsynonymous SNV V698I 0 0.003 0 0 0 1 0 0 0 0 0 0 34 272731 chr2 27360051 27360051 T A PRR30 Stop gain K383X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 272732 chr2 28853479 28853479 C T rs756594092 PLB1 Nonsynonymous SNV S1271L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 272733 chr19 40581484 40581484 C T rs140726997 ZNF780A Nonsynonymous SNV G289S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 272734 chr18 67614148 67614148 G A rs780846062 CD226 Synonymous SNV G68G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.075 272735 chr19 41223231 41223231 G A rs751648466 ITPKC Nonsynonymous SNV G64E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 272736 chr8 94746850 94746850 G A rs140808276 RBM12B Nonsynonymous SNV R597C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.9 272737 chr19 19749088 19749088 G A rs971398654 GMIP Synonymous SNV R223R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.365 272738 chr18 72997825 72997825 - GCCC TSHZ1 Frameshift insertion A155Gfs*66 0 0 0 1 0 0 0.003 0 0 0 0 0 272739 chr19 43023255 43023255 T C rs45452298 CEACAM1 Nonsynonymous SNV Q364R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 272740 chr18 77805992 77805992 G A RBFA Nonsynonymous SNV S290N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.017 272741 chr19 2129394 2129394 G A rs199695826 AP3D1 Synonymous SNV L219L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.41 272742 chr19 44117696 44117696 C T rs184949308 SRRM5 Stop gain R475X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 272743 chr2 61644389 61644389 A G SNORA70B 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 272744 chr2 68385109 68385109 G T rs200032442 PNO1 Nonsynonymous SNV G15C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 272745 chr19 3179718 3179718 C T rs767058179 S1PR4 Nonsynonymous SNV R310C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 272746 chr8 124518686 124518686 G A rs140223880 FBXO32 Synonymous SNV S115S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.03 272747 chr19 34292224 34292224 G T KCTD15 Synonymous SNV T73T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 272748 chr8 125551428 125551428 A G rs369824948 NDUFB9 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 10.49 272749 chr19 3543233 3543233 C T rs1017564496 C19orf71 Synonymous SNV S28S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.87 272750 chr19 35828767 35828767 G A rs369874900 CD22 Synonymous SNV T104T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.395 272751 chr19 1119618 1119618 C T SBNO2 Nonsynonymous SNV A367T 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 272752 chr19 4538264 4538264 G A rs142530537 LRG1 Synonymous SNV N244N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.36 272753 chr19 36304113 36304113 G T rs145723152 PRODH2 Nonsynonymous SNV T24N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 272754 chr19 1235878 1235878 C A rs79529846 CBARP Nonsynonymous SNV V49L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.654 272755 chr19 3648628 3648628 G C PIP5K1C Synonymous SNV S402S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.333 272756 chr19 3613520 3613520 C T CACTIN Nonsynonymous SNV V474M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 272757 chr19 46181478 46181478 C T rs137944672 GIPR Synonymous SNV S346S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.817 272758 chr6 25551176 25551176 T G CARMIL1 Synonymous SNV L789L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.5 272759 chr19 13184283 13184283 G A NFIX Nonsynonymous SNV V223M 0 0 0 1 0 0 0.003 0 0 0 0 0 29 272760 chr19 1358593 1358593 C T rs567042146 PWWP3A Nonsynonymous SNV A74V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.587 272761 chr19 47423120 47423120 C T rs200505736 ARHGAP35 Synonymous SNV N396N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.444 272762 chr19 14266972 14266972 G C ADGRL1 Nonsynonymous SNV I1025M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.42 272763 chr2 98810888 98810888 G A rs955584764 VWA3B Nonsynonymous SNV R214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 272764 chr19 48197801 48197801 G A rs200856502 BICRA Nonsynonymous SNV D905N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 272765 chr8 144672176 144672176 G A rs142962150 EEF1D Nonsynonymous SNV R26C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 272766 chr3 107508716 107508716 G A BBX Nonsynonymous SNV R426Q 0 0 0.007 0 0 0 0 2 0 0 0 0 13.4 272767 chr3 108476019 108476019 G C rs34125628 RETNLB Nonsynonymous SNV S5C 0 0 0.007 0 0 0 0 2 0 0 0 0 0.091 272768 chr3 111603673 111603673 G T rs751573150 PHLDB2 Nonsynonymous SNV G250V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 272769 chr19 2222418 2222418 C T DOT1L Nonsynonymous SNV R1084C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 272770 chr19 15807850 15807850 C T rs374696674 CYP4F12 Synonymous SNV G510G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 272771 chr8 145001867 145001867 G T rs782294942 PLEC Nonsynonymous SNV A1142E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 272772 chr19 40519961 40519961 G A rs750251417 ZNF546 Nonsynonymous SNV V236I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.047 272773 chr19 49619588 49619588 G A rs778771020 LIN7B Synonymous SNV T99T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 272774 chr19 40887057 40887057 G A rs770087997 HIPK4 Nonsynonymous SNV R281C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 272775 chr3 113524355 113524355 T A rs779728444 ATP6V1A Nonsynonymous SNV S582T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 272776 chr19 41060158 41060158 C T rs749230970 SPTBN4 Nonsynonymous SNV R270W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 272777 chr19 41863865 41863865 T G rs368393895 B9D2 Nonsynonymous SNV I51L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.248 272778 chr8 145677783 145677783 C T CYHR1 Nonsynonymous SNV S261N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.95 272779 chr3 121154999 121154999 G A rs147692745 POLQ Stop gain R2505X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 272780 chr19 50939323 50939323 C T rs369687162 MYBPC2 Nonsynonymous SNV P84L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 272781 chr19 35758420 35758420 - CCA LSR H461_R462insH 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 272782 chr9 5919929 5919929 T C rs200141645 KIAA2026 Nonsynonymous SNV I2023V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 272783 chr19 36211139 36211139 G A rs776148419 KMT2B Nonsynonymous SNV R297Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.09 272784 chr19 44739117 44739117 C T rs199673102 ZNF227 Synonymous SNV C99C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.815 272785 chr19 52196952 52196952 C T rs567515616 SPACA6 Nonsynonymous SNV A58V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 272786 chr19 3643246 3643247 CC - PIP5K1C R548Lfs*61 0 0.005 0 0 0 2 0 0 0 0 0 0 272787 chr19 52376470 52376470 T C rs372428716 ZNF577 Nonsynonymous SNV N258S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 272788 chr9 17342355 17342355 C T CNTLN Nonsynonymous SNV P600L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.1 272789 chr19 52887682 52887682 T G ZNF880 Synonymous SNV L283L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.773 272790 chr19 20002548 20002548 A G rs757436007 ZNF253 Synonymous SNV T88T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.124 272791 chr19 52941827 52941827 C G rs201395526 ZNF534 Nonsynonymous SNV H344D 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 19.98 272792 chr19 4511790 4511790 C A rs569672810 PLIN4 Nonsynonymous SNV G728C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 272793 chr9 33466366 33466366 G A rs748236200 NOL6 Nonsynonymous SNV R717W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 272794 chr12 97137230 97137230 G A CFAP54 Nonsynonymous SNV A2424T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 272795 chr19 53740406 53740406 - T rs566714089 ZNF677 Frameshift insertion T525Nfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 272796 chr9 34972352 34972352 G A rs181962423 PHF24 Nonsynonymous SNV D130N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 272797 chr13 100622674 100622688 GGCGGCGGCGGCGGC - ZIC5 P420_P424del 0.001 0 0 0 1 0 0 0 0 0 0 0 272798 chr19 24310361 24310361 G A ZNF254 Nonsynonymous SNV C435Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 272799 chr19 45322335 45322335 G A rs79447398 BCAM Synonymous SNV A453A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.31 272800 chr3 147113815 147113815 T C rs771150392 ZIC4 Nonsynonymous SNV H221R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 272801 chr19 4891265 4891265 C T rs200331538 ARRDC5 Synonymous SNV P260P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 272802 chr3 151155987 151155987 G A IGSF10 Nonsynonymous SNV A148V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 272803 chr19 47883082 47883082 C T rs139543869 DHX34 Nonsynonymous SNV A941V 0.003 0 0 0 3 0 0 0 0 0 0 0 16.05 272804 chr6 108070922 108070922 C T rs140517190 SCML4 Synonymous SNV T26T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.18 272805 chr6 109563433 109563433 A G rs956292071 CCDC162P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.98 272806 chr19 56012102 56012102 G A rs888118455 SSC5D Nonsynonymous SNV D850N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 272807 chr9 98774543 98774543 G A rs543113205 ERCC6L2 Synonymous SNV S1248S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.72 272808 chr9 100888924 100888924 C T rs144845278 CORO2A Synonymous SNV R451R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.03 272809 chr9 104170824 104170824 A G rs113960014 ZNF189 Synonymous SNV K244K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.583 272810 chr6 126359917 126359917 C T rs144827448 TRMT11 Nonsynonymous SNV R245C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 272811 chr6 133015170 133015170 C T rs781268271 VNN1 Nonsynonymous SNV V165I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 272812 chr19 38743560 38743560 C G rs61750951 PPP1R14A Nonsynonymous SNV E86Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 272813 chr19 39056212 39056212 G A RYR1 Nonsynonymous SNV G4408E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.159 272814 chr3 185390334 185390334 A T IGF2BP2 Nonsynonymous SNV F263I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 272815 chr19 50360994 50360996 CAA - rs755915805 PTOV1 N255del 0.002 0 0 0 2 0 0 0 0 0 0 0 272816 chr19 4512755 4512755 C T PLIN4 Nonsynonymous SNV G406E 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 272817 chr3 195516380 195516380 C A rs201937556 MUC4 Nonsynonymous SNV A691S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 272818 chr9 117692411 117692411 A G rs776716866 TNFSF8 Nonsynonymous SNV M58T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 272819 chr3 195638692 195638692 G A rs544786905 TNK2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.712 272820 chr19 4684014 4684014 G A rs563810844 DPP9-AS1 0 0.005 0 0 0 2 0 0 0 0 0 0 2.672 272821 chr3 196457870 196457870 G C rs78867326 PIGX Synonymous SNV P180P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 9.496 272822 chr3 196534706 196534706 T C rs144954628 PAK2 Synonymous SNV H210H 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.019 272823 chr3 196735737 196735737 C T rs146927315 MELTF Nonsynonymous SNV R542H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.4 272824 chr13 96543207 96543207 G A rs186006407 UGGT2 Nonsynonymous SNV T956M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 272825 chr9 129851329 129851329 A G rs754666449 ANGPTL2 Synonymous SNV H457H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.646 272826 chr9 131568249 131568249 G A rs199968908 TBC1D13 Nonsynonymous SNV D219N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 272827 chr7 932002 932002 G A rs138550078 GET4 Synonymous SNV P231P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.59 272828 chr19 45805691 45805691 G A rs562298714 MARK4 Nonsynonymous SNV S661N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.7 272829 chr7 2577941 2577941 G T rs148661872 BRAT1 Nonsynonymous SNV P568H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 4.52 272830 chr7 2625929 2625929 C T rs374856058 IQCE Synonymous SNV L239L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.054 272831 chr3 48302376 48302376 G C rs566906345 ZNF589 Nonsynonymous SNV R57T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 272832 chr3 48602350 48602350 C T rs147911102 COL7A1 Nonsynonymous SNV R2895Q 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 272833 chr3 48664103 48664103 G A rs759369319 SLC26A6 Nonsynonymous SNV R589W 0 0 0.007 0 0 0 0 2 0 0 0 0 32 272834 chr3 49051485 49051485 C T rs141196143 WDR6 Synonymous SNV L814L 0 0.003 0.007 0 0 1 0 2 0 0 0 0 15.41 272835 chr3 49713892 49713892 G A rs778686415 APEH Nonsynonymous SNV E230K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 272836 chr3 49738949 49738949 T G rs139814207 RNF123 Nonsynonymous SNV F435V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 272837 chr19 5771046 5771046 G A rs374184519 CATSPERD Nonsynonymous SNV V576I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 272838 chr3 50683165 50683165 A C MAPKAPK3 Nonsynonymous SNV K218T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 272839 chr9 138773518 138773518 C T rs1050116539 CAMSAP1 Synonymous SNV P182P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 272840 chr19 52447959 52447959 C T rs368982536 ZNF613 Nonsynonymous SNV L275F 0 0.003 0 0 0 1 0 0 0 0 0 0 5.228 272841 chr19 4839531 4839531 C T rs888843093 PLIN3 Synonymous SNV A325A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.82 272842 chr9 139371305 139371305 T C SEC16A Nonsynonymous SNV I255V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 272843 chr19 49001476 49001476 C T rs372400709 LMTK3 Synonymous SNV G979G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.446 272844 chr19 49090672 49090672 C T SULT2B1 Nonsynonymous SNV A119V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 272845 chr19 58437550 58437550 T C rs201309448 ZNF418 Nonsynonymous SNV R582G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 272846 chr19 58453949 58453949 T G rs139927596 ZNF256 Nonsynonymous SNV Q76P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.597 272847 chr19 58096328 58096328 G A rs147325835 ZIK1 Synonymous SNV V14V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.919 272848 chr9 140043555 140043555 C T rs200951749 GRIN1 Nonsynonymous SNV S222F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 272849 chr19 58213274 58213274 C T rs200989135 ZNF154 Nonsynonymous SNV R348Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.53 272850 chr19 58823734 58823734 C T ERVK3-1, ZNF8-ERVK3-1 0.002 0 0 0 2 0 0 0 0 0 0 0 10.3 272851 chr9 140968509 140968509 C T rs77664166 CACNA1B Synonymous SNV I1616I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 18.85 272852 chr19 7682445 7682445 A G CAMSAP3 Synonymous SNV K1114K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.64 272853 chr3 99569874 99569874 C G FILIP1L Nonsynonymous SNV E216Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 272854 chr7 36552967 36552967 G T AOAH Nonsynonymous SNV A508E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 272855 chr10 7659104 7659104 T C rs761763146 ITIH5 Nonsynonymous SNV N51S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 272856 chr10 7816808 7816808 T C rs745680177 KIN Synonymous SNV T218T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 272857 chr10 12203009 12203009 C T rs138445013 SEC61A2 Synonymous SNV G330G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.1 272858 chr10 14574639 14574639 T C FAM107B Nonsynonymous SNV Q3R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.25 272859 chr19 886102 886102 T A rs781169860 MED16 Nonsynonymous SNV T183S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 272860 chr1 150415722 150415722 A C RPRD2 Nonsynonymous SNV K151T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 272861 chr19 9045897 9045897 G T rs61741223 MUC16 Nonsynonymous SNV P11912T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.028 272862 chr19 9049322 9049322 G A rs61738391 MUC16 Nonsynonymous SNV T10770I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.275 272863 chr19 9058888 9058888 C T rs61995681 MUC16 Nonsynonymous SNV A9520T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.316 272864 chr4 123843715 123843715 - CGGC rs776792749 NUDT6 Frameshift insertion L5Afs*87 0 0 0.003 0 0 0 0 1 0 0 0 0 272865 chr4 123843716 123843716 - GCCCCAGCTCAGC rs765181618 NUDT6 Frameshift insertion R9Tfs*86 0 0 0.003 0 0 0 0 1 0 0 0 0 272866 chr4 126240836 126240836 A G rs779976909 FAT4 Synonymous SNV L1090L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.158 272867 chr19 9062622 9062622 G A rs76296486 MUC16 Nonsynonymous SNV T8275M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.104 272868 chr19 9069551 9069551 C T rs79893793 MUC16 Synonymous SNV R5965R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 8.22 272869 chr10 35929956 35929956 G A rs762630852 FZD8 Synonymous SNV R134R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.992 272870 chr19 9070720 9070720 A C rs114448739 MUC16 Nonsynonymous SNV S5576A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.132 272871 chr19 9072269 9072269 T C rs114148988 MUC16 Synonymous SNV L5059L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.055 272872 chr19 9073678 9073678 C G rs115311327 MUC16 Nonsynonymous SNV D4590H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.617 272873 chr4 13602757 13602757 T C rs746003050 BOD1L1 Nonsynonymous SNV I1923V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 272874 chr19 54721049 54721049 A G rs60566950 LILRB3 Synonymous SNV L604L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 272875 chr19 9082548 9082548 C T rs114452591 MUC16 Synonymous SNV E3089E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 10.98 272876 chr19 9084562 9084562 G A rs547499517 MUC16 Nonsynonymous SNV S2418F 0.002 0 0 0 2 0 0 0 0 0 0 0 1.459 272877 chr10 47000187 47000187 C T rs201252777 GPRIN2 Nonsynonymous SNV P436L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 272878 chr19 9086181 9086181 G A rs115112318 MUC16 Synonymous SNV G1878G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.32 272879 chr19 9087474 9087474 G A rs116485406 MUC16 Synonymous SNV P1447P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.041 272880 chr19 9089672 9089672 C T rs116477649 MUC16 Nonsynonymous SNV A715T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 7.845 272881 chr19 7830869 7830869 G A rs28413926 CLEC4M Nonsynonymous SNV R166Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 272882 chr10 61122165 61122165 A G rs950252478 FAM13C Nonsynonymous SNV V19A 0 0.003 0 0 0 1 0 0 0 0 0 0 23 272883 chr10 63817040 63817040 G A rs766671826 ARID5B Synonymous SNV T94T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 272884 chr4 186350595 186350595 G A rs767182653 C4orf47 Nonsynonymous SNV M10I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 272885 chr10 72643759 72643759 C T rs115117837 PCBD1 Nonsynonymous SNV R88Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.1 272886 chr1 113237439 113237439 C T MOV10 Nonsynonymous SNV T514I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 272887 chr10 77159890 77159890 C T ZNF503 Synonymous SNV K186K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.65 272888 chr1 115527453 115527453 T G rs1041290439 SYCP1 Nonsynonymous SNV D864E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 272889 chr10 90431697 90431697 G T rs762433771 LIPF Nonsynonymous SNV R182I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.03 272890 chr7 100850911 100850911 C T rs148219926 PLOD3 Nonsynonymous SNV R628Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 272891 chr10 95422915 95422917 AAG - rs757524417 PDE6C E834del 0 0.003 0 0 0 1 0 0 0 0 0 0 272892 chr1 119965127 119965127 C T rs148200568 HSD3B2 Stop gain R335X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 38 272893 chr1 145415389 145415389 C T rs377513689 HJV Nonsynonymous SNV R70W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 272894 chr1 144922234 144922234 C T rs142136172 PDE4DIP Nonsynonymous SNV A475T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 272895 chr19 7926798 7926798 C T rs560595596 EVI5L Nonsynonymous SNV A502V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 272896 chr1 145541882 145541882 C T rs59254015 ITGA10 Synonymous SNV L992L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.64 272897 chr1 111144759 111144759 G A rs770970601 KCNA2 Nonsynonymous SNV R310W 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 272898 chr10 102269078 102269085 AAGGATTC - rs762395910 SEC31B L129Ffs*14 0 0.003 0.003 0 0 1 0 1 0 0 0 0 272899 chr1 149858704 149858704 C T rs782800981 H2AC20 Synonymous SNV T60T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.458 272900 chr19 8196644 8196644 C T rs199628711 FBN3 Nonsynonymous SNV R595H 0 0 0 1 0 0 0.003 0 0 0 0 0 17.5 272901 chr4 5812151 5812151 C T rs757526901 EVC Synonymous SNV S956S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 272902 chr1 1141855 1141855 C T rs770737551 TNFRSF18 Nonsynonymous SNV G33R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.7 272903 chr10 104572776 104572776 G T rs150055849 WBP1L Synonymous SNV T260T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.698 272904 chr4 68693224 68693224 C T rs145436844 TMPRSS11D Nonsynonymous SNV R236H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 272905 chr1 155297994 155297994 G A rs149617084 RUSC1 Nonsynonymous SNV R348Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 272906 chr1 153190653 153190653 A G PRR9 Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.49 272907 chr4 73012833 73012833 T C rs141010660 NPFFR2 Synonymous SNV Y291Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 272908 chr10 115981178 115981178 A T rs139090815 TDRD1 Nonsynonymous SNV N941Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 272909 chr10 116245082 116245082 G A rs560302796 ABLIM1 Nonsynonymous SNV R51C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 272910 chr1 196977812 196977812 G A rs369410913 CFHR5 Synonymous SNV X570X 0.001 0 0 0 1 0 0 0 0 0 0 0 5.599 272911 chr19 9062341 9062341 C T rs368645665 MUC16 Nonsynonymous SNV V8369I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.432 272912 chr10 121212773 121212773 A C GRK5 Nonsynonymous SNV R553S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 272913 chr1 156561945 156561945 A G NAXE Nonsynonymous SNV S79G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 272914 chr1 200555241 200555241 T C rs371420735 KIF14 Nonsynonymous SNV K586E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 272915 chr1 149878247 149878247 C T rs368970085 SV2A Nonsynonymous SNV V66M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 272916 chr7 143792788 143792788 G A OR2A12 Synonymous SNV V196V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.33 272917 chr1 201196066 201196066 C T rs150642308 IGFN1 Nonsynonymous SNV R3615W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 272918 chr1 151491099 151491099 T C rs750126203 CGN Nonsynonymous SNV L35P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 272919 chr1 100316637 100316637 C T rs138203039 AGL Synonymous SNV N13N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.77 272920 chr10 134591197 134591197 C T rs150382081 INPP5A Nonsynonymous SNV R270C 0.002 0.005 0 0 2 2 0 0 0 0 0 0 25.6 272921 chr1 204109237 204109237 C T rs554543246 ETNK2 Nonsynonymous SNV R87Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 272922 chr1 154245864 154245866 GAA - rs763907387 HAX1 E40del 0 0.003 0 0 0 1 0 0 0 0 0 0 272923 chr1 155002644 155002644 G A rs747961590 DCST2 Nonsynonymous SNV R365C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 272924 chr10 135106153 135106153 G A rs202119147 TUBGCP2 Nonsynonymous SNV T225M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 272925 chr1 206225222 206225222 G A rs782068324 AVPR1B Nonsynonymous SNV G261E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 272926 chr1 206681079 206681079 - C RASSF5 Frameshift insertion L50Pfs*89 0.001 0 0 0 1 0 0 0 0 0 0 0 272927 chr1 15653598 15653598 G A FHAD1 Nonsynonymous SNV R506Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.49 272928 chr1 15655787 15655788 AG - FHAD1-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 272929 chr5 1240682 1240682 G T SLC6A18 Synonymous SNV L294L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.503 272930 chr11 608190 608190 G A rs981255407 PHRF1 Nonsynonymous SNV E912K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.434 272931 chr11 617638 617638 C T rs781324004 CDHR5 Nonsynonymous SNV G557S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.063 272932 chr1 214557131 214557131 G A PTPN14 Synonymous SNV L689L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 272933 chr11 831675 831675 G C rs752484854 CRACR2B Nonsynonymous SNV R389T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.454 272934 chr1 161137806 161137806 C T rs148730591 PPOX Synonymous SNV P120P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.87 272935 chr1 1225917 1225917 G A rs201531018 SCNN1D Nonsynonymous SNV R614H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.14 272936 chr5 140515671 140515671 G A rs149851959 PCDHB5 Nonsynonymous SNV A219T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.589 272937 chr5 140798156 140798156 C G rs184213052 PCDHGB7 Nonsynonymous SNV Q244E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 20.7 272938 chr5 140806162 140806162 C T rs114740440 PCDHGB8P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.378 272939 chr1 1354884 1354884 C T rs760197934 ANKRD65 Nonsynonymous SNV D266N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 272940 chr1 167865863 167865863 T A rs201531121 ADCY10 Nonsynonymous SNV M84L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.96 272941 chr5 148630922 148630922 A G rs781684954 ABLIM3 Nonsynonymous SNV T486A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 272942 chr11 1263605 1263605 C T rs183299692 MUC5B Nonsynonymous SNV A1832V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 272943 chr5 149360939 149360939 T C SLC26A2 Nonsynonymous SNV F595L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 272944 chr11 1272122 1272122 C T rs200487586 MUC5B Nonsynonymous SNV T4671I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.723 272945 chr5 149747439 149747439 C A rs151324548 TCOF1 Nonsynonymous SNV L113M 0.001 0.003 0.01 0 1 1 0 3 0 0 0 0 0.006 272946 chr1 230468603 230468603 G A rs752531563 PGBD5 Synonymous SNV S420S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 272947 chr1 231060678 231060678 G A rs145747933 TTC13 Nonsynonymous SNV R491C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 272948 chr1 152692716 152692716 C A C1orf68 Nonsynonymous SNV A240E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 272949 chr8 38205085 38205085 T C NSD3 Nonsynonymous SNV K202R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 7.467 272950 chr1 232940863 232940863 G A rs74927351 MAP10 Nonsynonymous SNV D32N 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 272951 chr1 232942546 232942546 A G rs59165168 MAP10 Nonsynonymous SNV K593E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.287 272952 chr1 204587481 204587481 G A rs778752230 LRRN2 Nonsynonymous SNV T547I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.106 272953 chr5 156590151 156590151 C T rs777781639 FAM71B Synonymous SNV A375A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.6 272954 chr1 155630079 155630079 C A rs776833394 YY1AP1 Nonsynonymous SNV C530F 0 0 0 1 0 0 0.003 0 0 0 0 0 24 272955 chr16 1821079 1821079 C A rs377760179 NME3 Nonsynonymous SNV V91L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24.1 272956 chr1 155912155 155912155 G A rs370386081 RXFP4 Nonsynonymous SNV V219I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 272957 chr1 1564073 1564073 G C rs199708127 MIB2 Nonsynonymous SNV D775H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 272958 chr1 236917310 236917310 A G ACTN2 Nonsynonymous SNV N635D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 272959 chr8 74205836 74205836 T A rs149887192 RPL7 Synonymous SNV V4V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.248 272960 chr5 176761346 176761346 G A rs140300375 LMAN2 Synonymous SNV D283D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.525 272961 chr1 19209785 19209785 G C ALDH4A1 Stop gain Y137X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 272962 chr1 216741344 216741344 G T rs781333180 ESRRG Nonsynonymous SNV P44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 272963 chr1 19511609 19511609 C T rs370057018 UBR4 Nonsynonymous SNV R641H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 272964 chr1 220964843 220964843 G C rs12023067 MTARC1 Nonsynonymous SNV V96L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.2 272965 chr1 220971263 220971263 G A rs72470600 MTARC1 Synonymous SNV S220S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 6.666 272966 chr5 180661257 180661257 C T rs753091850 TRIM41 Nonsynonymous SNV R459W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 272967 chr1 160178433 160178433 A G rs956349926 PEA15 Synonymous SNV P13P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 272968 chr1 225591048 225591048 T C LBR Nonsynonymous SNV Y602C 0.002 0 0 0 2 0 0 0 0 0 0 0 31 272969 chr1 226032978 226032978 C T rs373221599 EPHX1 Nonsynonymous SNV A433V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 272970 chr1 228399900 228399900 C G OBSCN Nonsynonymous SNV P139R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 272971 chr1 167096795 167096795 G A rs142434634 DUSP27 Synonymous SNV A809A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.148 272972 chr5 447831 447831 G C EXOC3 Nonsynonymous SNV A110P 0 0 0.003 0 0 0 0 1 0 0 0 0 27 272973 chr1 228464230 228464230 G C OBSCN Synonymous SNV L2100L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.405 272974 chr1 170508632 170508632 T C GORAB Nonsynonymous SNV S140P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 272975 chr5 56778423 56778423 G T rs78342986 ACTBL2 Nonsynonymous SNV R38S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 272976 chr5 61875320 61875320 T - LRRC70 C19Vfs*31 0 0 0.003 0 0 0 0 1 0 0 0 0 272977 chr1 231954255 231954255 C T rs768871439 DISC1 Nonsynonymous SNV T536I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 272978 chr16 4934205 4934205 C G rs201406268 PPL Nonsynonymous SNV R1484P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 272979 chr1 233511748 233511748 A - MAP3K21 G590Vfs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 272980 chr5 68398889 68398889 G T rs28450427 SLC30A5 Synonymous SNV R28R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.55 272981 chr1 21926018 21926018 G A rs750131708 RAP1GAP Nonsynonymous SNV T646M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 272982 chr11 17981042 17981042 G A rs566962135 SERGEF Nonsynonymous SNV P329L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.89 272983 chr11 18754804 18754804 G T rs150053421 PTPN5 Nonsynonymous SNV T375N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 272984 chr5 79034427 79034427 G A CMYA5 Nonsynonymous SNV G3280E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 272985 chr5 79617039 79617039 A G rs374023153 SPZ1 Synonymous SNV V335V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.122 272986 chr11 22646710 22646710 C G rs192534185 FANCF Nonsynonymous SNV R216P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.8 272987 chr1 185143659 185143659 G A rs560126251 SWT1 Nonsynonymous SNV C127Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 272988 chr11 30938462 30938462 G A rs141655703 DCDC1 Nonsynonymous SNV T243M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 9.56 272989 chr11 44146382 44146382 C T EXT2 Nonsynonymous SNV P296S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 272990 chr1 242122117 242122117 C T BECN2 Nonsynonymous SNV A350V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.665 272991 chr1 200868717 200868717 C T rs552128674 INAVA Nonsynonymous SNV R58W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 272992 chr1 51796802 51796802 T C rs887297580 TTC39A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.829 272993 chr16 76486483 76486483 C A rs762920106 CNTNAP4 Nonsynonymous SNV P255T 0.003 0 0 0 3 0 0 0 0 0 0 0 21.1 272994 chr6 10881992 10881992 A T rs750411431 GCM2 Nonsynonymous SNV V12E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 272995 chr1 52525559 52525559 C T BTF3L4 Nonsynonymous SNV R14W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 272996 chr11 48347062 48347062 G A rs769860781 OR4C3 Stop gain W163X 0 0.003 0 0 0 1 0 0 0 0 0 0 31 272997 chr1 32827063 32827063 C A FAM229A Nonsynonymous SNV G119C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 272998 chr1 238048521 238048521 T C rs760923145 ZP4 Nonsynonymous SNV I419V 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 0.058 272999 chr6 126248892 126248892 C G NCOA7 Nonsynonymous SNV S146R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 273000 chr1 64608167 64608167 A G rs55753613 ROR1 Synonymous SNV P336P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.47 273001 chr1 24996658 24996658 G A rs201082864 SRRM1 Nonsynonymous SNV R666Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 273002 chr1 24454743 24454744 AT - IL22RA1 Stop gain Y186* 0 0.003 0 0 0 1 0 0 0 0 0 0 273003 chr6 137528173 137528173 T A IFNGR1 Nonsynonymous SNV N43Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 273004 chr9 99064378 99064378 G A rs139582148 HSD17B3 Synonymous SNV D3D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 4.389 273005 chr1 871276 871276 G A rs146347471 SAMD11 Nonsynonymous SNV G144S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 273006 chr6 15496663 15496663 G A rs142358716 JARID2 Nonsynonymous SNV A231T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 273007 chr1 906717 906717 G A rs139460652 PLEKHN1 Nonsynonymous SNV R253Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 273008 chr6 159420735 159420735 G A rs41267755 RSPH3 Nonsynonymous SNV P92S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.544 273009 chr9 112898794 112898794 C G rs754058728 PALM2AKAP2 Nonsynonymous SNV P182A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 273010 chr1 227935753 227935753 C T rs370445280 SNAP47 Nonsynonymous SNV P106S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.927 273011 chr1 228289144 228289146 CTC - rs773538123 C1orf35 E188del 0 0 0 1 0 0 0.003 0 0 0 0 0 273012 chr11 58189928 58189928 G T OR5B2 Nonsynonymous SNV D269E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 273013 chr1 34554703 34554703 C T rs144913200 CSMD2 Synonymous SNV T93T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.71 273014 chr1 47150188 47150188 G A EFCAB14 Synonymous SNV N387N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 8.357 273015 chr1 65831733 65831733 A T rs61757223 DNAJC6 Nonsynonymous SNV M133L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 273016 chr1 6727803 6727804 TC - rs374290353 DNAJC11 E115Rfs*25 0.001 0 0 1 1 0 0.003 0 0 0 0 0 273017 chr6 24798949 24798949 - T rs1031357043 ARMH2 Frameshift insertion I46Nfs*5 0 0 0.007 0 0 0 0 2 0 0 0 0 273018 chr1 242159615 242159615 G A rs200481799 MAP1LC3C Synonymous SNV S98S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.05 273019 chr11 64878076 64878076 G A VPS51 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 273020 chr1 86590578 86590578 T G rs10493784 COL24A1 Nonsynonymous SNV M481L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.175 273021 chr1 62993961 62993961 C T rs138914992 DOCK7 Nonsynonymous SNV R1235Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.6 273022 chr1 86591001 86591001 C T rs74097690 COL24A1 Nonsynonymous SNV E340K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.749 273023 chr1 86591567 86591567 G A rs1027819 COL24A1 Nonsynonymous SNV P151L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.575 273024 chr1 86591736 86591736 C T rs74097691 COL24A1 Nonsynonymous SNV V95M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.374 273025 chr1 65243343 65243343 C T rs369492949 RAVER2 Synonymous SNV N118N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 273026 chr1 89616192 89616192 T C rs56686060 GBP7 Nonsynonymous SNV Q231R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 273027 chr1 89630475 89630475 G T rs77749204 GBP7 Nonsynonymous SNV P86H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 273028 chr1 89637504 89637504 C G rs78648157 GBP7 Nonsynonymous SNV V39L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 273029 chr1 89728414 89728414 T C rs377076158 GBP5 Nonsynonymous SNV I473V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 273030 chr1 90472950 90472950 C A rs142832711 ZNF326 Synonymous SNV R86R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 273031 chr1 74945962 74945963 CT - LRRC53 S260Cfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 273032 chr20 36874443 36874443 C T KIAA1755 Nonsynonymous SNV G30D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 273033 chr20 37150183 37150183 A C rs746470852 RALGAPB Synonymous SNV S487S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 273034 chr11 68704083 68704083 T C IGHMBP2 Nonsynonymous SNV L712P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.657 273035 chr20 40081385 40081385 G T CHD6 Synonymous SNV I1106I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 273036 chr20 42939781 42939781 T A FITM2 Nonsynonymous SNV H3L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 273037 chr20 43043233 43043233 G A HNF4A Synonymous SNV E193E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 273038 chr1 85397115 85397115 A T MCOLN2 Nonsynonymous SNV I491N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 273039 chr1 94639763 94639763 C T rs149136237 ARHGAP29 Nonsynonymous SNV A1086T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.86 273040 chr6 46107410 46107410 A G ENPP4 Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.455 273041 chr1 248756453 248756455 ATG - rs752537672 OR2T10 I205del 0 0 0 1 0 0 0.003 0 0 0 0 0 273042 chr1 91406110 91406110 T C rs151134630 ZNF644 Synonymous SNV Q267Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.001 273043 chr20 50705065 50705065 T C rs922747032 ZFP64 Nonsynonymous SNV Y146C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 273044 chr1 6680069 6680071 GAA - rs773961932 PHF13 K121del 0 0.003 0 0 0 1 0 0 0 0 0 0 273045 chr1 29630537 29630537 G A rs765153873 PTPRU Nonsynonymous SNV G883S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 273046 chr1 32740676 32740676 C G LCK Nonsynonymous SNV I90M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.7 273047 chr1 3329269 3329269 C T rs374271999 PRDM16 Synonymous SNV G836G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.208 273048 chr1 33772537 33772537 C T A3GALT2 Nonsynonymous SNV E285K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 273049 chr1 3415335 3415335 G A rs369211580 MEGF6 Synonymous SNV N1050N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.671 273050 chr6 72011146 72011146 A G rs781157544 OGFRL1 Synonymous SNV G251G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.607 273051 chr20 1961097 1961097 G A rs150455107 PDYN Nonsynonymous SNV R213C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 273052 chr20 19956304 19956304 G A RIN2 Synonymous SNV E545E 0.002 0 0 0 2 0 0 0 0 0 0 0 3.051 273053 chr1 38463437 38463437 G T FHL3 Synonymous SNV R95R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 273054 chr20 25281502 25281502 C T rs184232860 ABHD12 Synonymous SNV S392S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 19.41 273055 chr6 87797859 87797859 A G rs762154861 CGA Synonymous SNV H20H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 273056 chr6 87965659 87965659 G A ZNF292 Nonsynonymous SNV R771Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 273057 chr20 18143111 18143111 T C rs746306974 KAT14 Nonsynonymous SNV V398A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 273058 chr6 90494823 90494823 A G rs200653256 MDN1 Nonsynonymous SNV W453R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 273059 chr20 30816162 30816162 A G POFUT1 Synonymous SNV V213V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.454 273060 chr11 113608990 113608990 C T rs375477182 ZW10 Nonsynonymous SNV R627Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 273061 chr7 100075306 100075306 G A rs376993526 TSC22D4 Nonsynonymous SNV A119V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 273062 chr7 100410582 100410582 C A rs374676243 EPHB4 Nonsynonymous SNV K635N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 273063 chr20 62321687 62321687 G A rs369014080 RTEL1 Nonsynonymous SNV R546H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.97 273064 chr1 46751321 46751321 C T rs371994339 LRRC41 Nonsynonymous SNV R403H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 273065 chr17 47590303 47590303 C G NGFR Nonsynonymous SNV R406G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 273066 chr20 30486328 30486328 G A rs772063026 TTLL9 Nonsynonymous SNV D56N 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 273067 chr11 121420702 121420702 A G rs147187803 SORL1 Synonymous SNV S695S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.88 273068 chr21 28337964 28337964 G T rs763713878 ADAMTS5 Synonymous SNV G249G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.205 273069 chr11 122955250 122955250 C T rs141499494 CLMP Nonsynonymous SNV V120M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 273070 chr20 32005540 32005540 T C rs1064796525 SNTA1 Nonsynonymous SNV N229S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.177 273071 chr1 55067082 55067082 C G rs370417244 ACOT11 Nonsynonymous SNV P342R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.19 273072 chr20 33586543 33586543 G A rs748661441 MYH7B Nonsynonymous SNV A1381T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 273073 chr1 55136555 55136555 G A rs376972881 MROH7 Nonsynonymous SNV V36M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 273074 chr11 123900902 123900902 C A OR10G8 Synonymous SNV T191T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 273075 chr17 56384177 56384177 A G rs111608552 TSPOAP1 Synonymous SNV I1652I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.587 273076 chr20 47841503 47841503 G C rs142399230 DDX27 Nonsynonymous SNV R194P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 273077 chr17 56388102 56388102 C A rs112573747 TSPOAP1 Nonsynonymous SNV G1097V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.8 273078 chr1 59248146 59248146 C T rs750682742 JUN Synonymous SNV A199A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.9 273079 chr20 36869557 36869557 C T rs528120823 KIAA1755 Nonsynonymous SNV A326T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.3 273080 chr17 56388356 56388356 C T rs61745692 TSPOAP1 Synonymous SNV A1040A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 273081 chr21 38600557 38600557 C T rs143165732 VPS26C Nonsynonymous SNV V84M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 273082 chr21 39817478 39817478 C T rs760206155 ERG Nonsynonymous SNV A29T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 273083 chr11 126075677 126075677 C T rs149813947 RPUSD4 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 273084 chr7 107389359 107389359 C T rs17154400 CBLL1 Synonymous SNV S16S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 273085 chr7 107820766 107820766 G C rs745616800 NRCAM Nonsynonymous SNV L883V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 273086 chr1 66058381 66058381 G A rs151190195 LEPR Nonsynonymous SNV G179D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.671 273087 chr11 134023058 134023058 T C rs778033495 NCAPD3 Synonymous SNV L1455L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.396 273088 chr21 43274793 43274793 C T rs757061956 PRDM15 Synonymous SNV V177V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 273089 chr12 2797867 2797867 C G rs780157730 CACNA1C Synonymous SNV P2021P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.878 273090 chr7 127223162 127223162 C T rs202171274 GCC1 Nonsynonymous SNV A412T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 273091 chr1 78098105 78098105 C T rs139323381 ZZZ3 Nonsynonymous SNV R312K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 273092 chr20 33320381 33320381 G A rs369844271 NCOA6 Nonsynonymous SNV A1001V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.84 273093 chr1 87549960 87549960 A C rs200505827 HS2ST1 Synonymous SNV A149A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.8 273094 chr20 60419825 60419825 C T rs200413512 CDH4 Synonymous SNV S189S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.85 273095 chr20 60499416 60499416 G T rs372808555 CDH4 Synonymous SNV A514A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.808 273096 chr1 915685 915685 G A rs775007648 PERM1 Nonsynonymous SNV S242F 0 0 0 1 0 0 0.003 0 0 0 0 0 2.204 273097 chr20 62707975 62707975 G A rs138539292 RGS19 Nonsynonymous SNV R19W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 273098 chr7 142997478 142997478 A G rs763709140 CASP2 Nonsynonymous SNV I294V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 273099 chr20 43043289 43043289 C T rs201749293 HNF4A Nonsynonymous SNV P212L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 273100 chr20 43836230 43836230 C T rs376380754 SEMG1 Stop gain R98X 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 273101 chr20 44037095 44037095 C T rs369321820 DBNDD2 Synonymous SNV P98P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 273102 chr21 30715133 30715133 T C BACH1 Synonymous SNV D730D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.945 273103 chr7 149509709 149509709 G A rs753635285 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 273104 chr7 150093617 150093617 G A rs565550571 ZNF775 Nonsynonymous SNV M16I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.23 273105 chr10 95111327 95111327 C T MYOF Nonsynonymous SNV G1209D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 273106 chr12 13208635 13208635 A G rs769080937 FAM234B Nonsynonymous SNV D63G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 273107 chr22 24616049 24616049 G C GGT5 Nonsynonymous SNV N474K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 273108 chr22 25251543 25251543 A G rs959657409 SGSM1 Nonsynonymous SNV M233V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 273109 chr20 49621132 49621132 C G KCNG1 Nonsynonymous SNV G329A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.95 273110 chr20 17208082 17208082 C T PCSK2 Synonymous SNV D44D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.009 273111 chr20 57282224 57282224 G A rs192450107 NPEPL1 Nonsynonymous SNV V290I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.548 273112 chr21 33368254 33368254 C T rs141875933 HUNK Synonymous SNV P493P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.64 273113 chr22 30983344 30983344 G A rs555016723 PES1 Synonymous SNV S99S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 273114 chr20 20505542 20505542 T A rs748877467 RALGAPA2 Nonsynonymous SNV I1232F 0 0 0 1 0 0 0.003 0 0 0 0 0 23 273115 chr22 36702081 36702081 G A rs779853972 MYH9 Nonsynonymous SNV P685L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 273116 chr21 39764329 39764329 G A rs189755239 ERG Synonymous SNV T169T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 273117 chr21 45096731 45096731 C T RRP1B Synonymous SNV L244L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 273118 chr21 45811496 45811496 C T rs200702410 TRPM2 Synonymous SNV H594H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.4 273119 chr7 288357 288357 C T FAM20C Nonsynonymous SNV R345W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 273120 chr12 43862402 43862402 C A ADAMTS20 0 0.008 0 0 0 3 0 0 0 0 0 0 27.9 273121 chr12 48177638 48177638 G A HDAC7 Nonsynonymous SNV P951S 0 0.008 0 0 0 3 0 0 0 0 0 0 28.5 273122 chr12 48597049 48597049 C T rs17122809 OR10AD1 Synonymous SNV T9T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.97 273123 chr10 115610243 115610243 A G DCLRE1A Synonymous SNV C207C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 273124 chr22 39777839 39777839 G A rs558152755 SYNGR1 Nonsynonymous SNV A208T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.841 273125 chr21 45655434 45655434 C A rs755328093 ICOSLG, LOC102723996 Nonsynonymous SNV V23L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 16.42 273126 chr22 42306510 42306510 G A SHISA8 Nonsynonymous SNV P238L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 273127 chr12 52567433 52567433 G A rs750697351 KRT80 Nonsynonymous SNV A261V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 273128 chr10 124221413 124221413 C G rs541204010 HTRA1 Nonsynonymous SNV P82R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.7 273129 chr12 52627270 52627270 C T rs138391469 KRT7 Nonsynonymous SNV R64C 0 0.005 0 0 0 2 0 0 0 0 0 0 35 273130 chr7 47921594 47921594 A C PKD1L1 Nonsynonymous SNV S1119A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 273131 chr21 47633660 47633660 G A rs759489035 LSS Synonymous SNV D287D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.341 273132 chr12 54901664 54901664 A G rs770897764 NCKAP1L Nonsynonymous SNV I62V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 273133 chr7 6560332 6560332 G A rs964173113 GRID2IP Nonsynonymous SNV A382V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 273134 chr12 55726414 55726414 T C rs758360836 OR6C3 Synonymous SNV N310N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 273135 chr7 73774562 73774562 C T rs367705587 CLIP2 Nonsynonymous SNV R425W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.3 273136 chr22 30921821 30921821 G C rs765410801 SEC14L6 Nonsynonymous SNV L255V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.147 273137 chr7 86813721 86813721 A G rs989457324 DMTF1 Nonsynonymous SNV T189A 0 0 0.003 0 0 0 0 1 0 0 0 0 26 273138 chr12 57570981 57570981 C T rs374964279 LRP1 Synonymous SNV A1383A 0 0.008 0 0 0 3 0 0 0 0 0 0 19.44 273139 chr22 25331428 25331428 G A rs760216546 TMEM211 Nonsynonymous SNV L88F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.74 273140 chr7 89856718 89856718 G C STEAP2 Nonsynonymous SNV S309T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 273141 chr22 29130553 29130553 A T rs371657037 CHEK2 Nonsynonymous SNV S53T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 273142 chr18 55371870 55371870 C T rs756439394 ATP8B1 Nonsynonymous SNV A54T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.5 273143 chr22 29694755 29694755 A G rs143781060 EWSR1 Nonsynonymous SNV M428V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.27 273144 chr22 29735105 29735105 G A rs201592807 AP1B1 Synonymous SNV F672F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 273145 chr20 61512120 61512120 C G DIDO1 Nonsynonymous SNV G1730R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.4 273146 chr12 69047994 69047994 C T RAP1B Synonymous SNV L54L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.13 273147 chr22 31266552 31266552 C T rs61729255 OSBP2 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.34 273148 chr22 31529679 31529679 C T rs61742926 INPP5J Synonymous SNV I396I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 273149 chr22 31530271 31530271 G A rs181584370 INPP5J Nonsynonymous SNV A528T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 273150 chr22 32211004 32211004 G C rs8138516 DEPDC5 Nonsynonymous SNV S463T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.086 273151 chr8 107670309 107670309 G T OXR1 Nonsynonymous SNV R32L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 273152 chr21 47805845 47805845 C T rs375993930 PCNT Synonymous SNV G1019G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 273153 chr2 119749403 119749403 A C rs144978461 MARCO Nonsynonymous SNV K387Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.457 273154 chr12 80982179 80982179 T C rs764131025 PTPRQ Synonymous SNV N1347N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.171 273155 chr22 18070780 18070780 C T rs368054676 LOC101929372, SLC25A18 Nonsynonymous SNV C2Y 0 0.003 0 0 0 1 0 0 0 0 0 0 17.21 273156 chr20 8721064 8721064 A T PLCB1 Nonsynonymous SNV E794D 0 0 0 1 0 0 0.003 0 0 0 0 0 23 273157 chr22 37904647 37904647 G A CARD10 Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 273158 chr8 125131933 125131933 A T FER1L6 Nonsynonymous SNV I1826F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 273159 chr22 40803494 40803494 G A SGSM3 Synonymous SNV R419R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.16 273160 chr12 107168546 107168546 A G RIC8B Nonsynonymous SNV Y8C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 273161 chr8 133854873 133854873 A T rs202073588 PHF20L1 Nonsynonymous SNV E808V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 273162 chr21 35003814 35003814 A G CRYZL1 Nonsynonymous SNV I15T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 273163 chr8 133953746 133953746 A G rs115269259 TG Nonsynonymous SNV D1731G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 273164 chr22 43231419 43231419 C G rs767504049 ARFGAP3 Nonsynonymous SNV R114S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 273165 chr21 40177998 40177998 A G rs996248738 ETS2 Nonsynonymous SNV E125G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.799 273166 chr11 3028174 3028174 T C rs145985522 CARS1 Nonsynonymous SNV Q612R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 273167 chr2 15615979 15615979 T C rs543424467 NBAS Nonsynonymous SNV I391M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 273168 chr19 1067633 1067633 G A rs1013981455 ARHGAP45 Nonsynonymous SNV G21E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.606 273169 chr11 4609085 4609085 T C rs199847825 OR52I2 Nonsynonymous SNV L348P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 273170 chr11 4615869 4615869 C G rs78745657 OR52I1 Nonsynonymous SNV L201V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 273171 chr12 114377918 114377918 C T rs144311475 RBM19 Synonymous SNV P595P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.69 273172 chr11 4661255 4661255 C G rs375578443 OR51D1 Nonsynonymous SNV L79V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 273173 chr12 120189919 120189919 C T CIT Nonsynonymous SNV R905H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 273174 chr2 106002866 106002866 G A rs201189319 FHL2 Synonymous SNV F36F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.21 273175 chr2 163075595 163075595 T G rs76814605 FAP Synonymous SNV G170G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.297 273176 chr8 144651874 144651874 C A MROH6 Nonsynonymous SNV R432L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.49 273177 chr12 120650393 120650393 G A rs375180590 PXN-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 4.77 273178 chr2 163139025 163139025 C T rs138611889 IFIH1 Nonsynonymous SNV R386H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 273179 chr12 122248222 122248222 C T rs60212815 SETD1B Synonymous SNV P457P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.551 273180 chr12 122260869 122260869 C T SETD1B Synonymous SNV L1462L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.417 273181 chr22 50898077 50898077 G A rs13056317 SBF1 Synonymous SNV I1171I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 273182 chr2 100015309 100015309 C T rs761308345 EIF5B Synonymous SNV I1164I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.35 273183 chr8 145542364 145542364 C T rs781894452 DGAT1 Nonsynonymous SNV V156M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 273184 chr21 46924414 46924422 CCCGGCCCC - rs777010917 COL18A1 P1124_P1126del 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 273185 chr8 145741539 145741539 G T RECQL4 Nonsynonymous SNV L322I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 273186 chr12 124497439 124497439 A G rs142961134 ZNF664 Nonsynonymous SNV T250A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 273187 chr8 22464499 22464499 C T CCAR2 Nonsynonymous SNV P107S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 273188 chr2 11778907 11778907 C T rs138273238 GREB1 Synonymous SNV S1886S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.36 273189 chr22 44587934 44587934 C T PARVG Synonymous SNV T170T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 273190 chr2 120849235 120849235 A G rs759740360 EPB41L5 Nonsynonymous SNV K383R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.6 273191 chr22 21134382 21134382 A G SERPIND1 Nonsynonymous SNV K261R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 273192 chr2 131102250 131102250 A G rs148309625 IMP4 Nonsynonymous SNV Q54R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.764 273193 chr2 189859812 189859812 T C rs1001748912 COL3A1 Nonsynonymous SNV I499T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.323 273194 chr22 23482482 23482482 C T rs16997857 RSPH14 Synonymous SNV T42T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.646 273195 chr2 136033218 136033218 G C rs192962553 ZRANB3 Synonymous SNV V358V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.471 273196 chr19 18266731 18266731 G C rs767495472 PIK3R2 Synonymous SNV P14P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.21 273197 chr2 197863712 197863712 T G rs780136055 ANKRD44 Nonsynonymous SNV S862R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.12 273198 chr8 33371008 33371008 A G rs758108911 SNORD13 0 0 0.003 0 0 0 0 1 0 0 0 0 16.99 273199 chr8 37553541 37553546 GCAGCG - rs777014916 ZNF703 S20_G21del 0 0 0.003 0 0 0 0 1 0 0 0 0 273200 chr8 37823022 37823022 - AGAGAGGG ADRB3 Stop gain V323Pfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 273201 chr8 37823761 37823761 A C ADRB3 Nonsynonymous SNV V76G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 273202 chr19 18731241 18731241 G A TMEM59L Synonymous SNV K308K 0.003 0 0 0 3 0 0 0 0 0 0 0 9.076 273203 chr22 28196290 28196290 C G rs201422000 MN1 Nonsynonymous SNV G81A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 273204 chr19 19372297 19372297 C T HAPLN4 Nonsynonymous SNV A27T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.88 273205 chr2 101638808 101638808 G A rs200848642 TBC1D8 Nonsynonymous SNV T884M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.81 273206 chr2 175624069 175624069 C T rs147488907 CHRNA1 Nonsynonymous SNV R75H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 273207 chr2 207172770 207172770 A G rs77587473 ZDBF2 Nonsynonymous SNV N1173S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.011 273208 chr22 31332937 31332937 G T MORC2 Nonsynonymous SNV P529H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 273209 chr2 165551886 165551886 G A rs138701146 COBLL1 Synonymous SNV T672T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.171 273210 chr2 183817585 183817585 C T rs377516224 NCKAP1 Synonymous SNV A813A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 273211 chr22 37581353 37581353 G C rs144605871 C1QTNF6 Nonsynonymous SNV P65R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 21.2 273212 chr22 37603654 37603654 C T rs149653272 SSTR3 Synonymous SNV S63S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.09 273213 chr2 172337563 172337563 A G rs192590459 DCAF17 Nonsynonymous SNV Y434C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 273214 chr13 77531779 77531779 G T ACOD1 Nonsynonymous SNV V369L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 273215 chr13 77641763 77641763 C T MYCBP2 Synonymous SNV V4136V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 273216 chr2 218682715 218682715 G A rs753791826 TNS1 Nonsynonymous SNV S1322F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 273217 chr2 11738969 11738969 G A rs200154492 GREB1 Synonymous SNV A772A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.198 273218 chr2 17698019 17698019 A T rs376189678 RAD51AP2 Nonsynonymous SNV M555K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.1 273219 chr2 179408941 179408941 G A rs183620684 TTN Synonymous SNV P22940P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.99 273220 chr9 100109681 100109681 A C rs61026201 CCDC180 Nonsynonymous SNV N906H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.616 273221 chr9 100139164 100139164 C T rs61753637 CCDC180 Synonymous SNV G1698G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.564 273222 chr22 40814698 40814698 A G MRTFA Nonsynonymous SNV S582P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.734 273223 chr9 100617042 100617042 G A rs142235457 FOXE1 Synonymous SNV A282A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.8 273224 chr9 101014116 101014116 G T rs61752493 TBC1D2 Synonymous SNV T154T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.808 273225 chr19 35832417 35832417 C G rs767514089 CD22 Nonsynonymous SNV S383C 0.002 0 0 0 2 0 0 0 0 0 0 0 25 273226 chr2 179650718 179650718 C T rs370728359 TTN Nonsynonymous SNV A697T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.296 273227 chr2 179664396 179664396 G A rs761859812 TTN Synonymous SNV A244A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.83 273228 chr22 43023621 43023621 C T rs144871462 CYB5R3 Synonymous SNV A179A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20.3 273229 chr2 198950851 198950851 G A PLCL1 Synonymous SNV R870R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.713 273230 chr2 220337029 220337029 C T rs983649673 SPEG Nonsynonymous SNV P1306S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 273231 chr9 108136938 108136938 C T rs146164989 SLC44A1 Synonymous SNV A518A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.76 273232 chr9 108536283 108536283 C T rs751871410 TMEM38B Synonymous SNV G266G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 273233 chr2 204307392 204307392 T A rs918575335 RAPH1 Nonsynonymous SNV Q646L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 273234 chr2 187702055 187702055 G A rs149540467 ZSWIM2 Nonsynonymous SNV P241S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 25.6 273235 chr19 38866873 38866873 G A rs771231237 PSMD8 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 273236 chr2 162273098 162273098 G C TBR1 Nonsynonymous SNV M59I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 273237 chr2 202149628 202149628 A G rs146286958 CASP8 Nonsynonymous SNV I283V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 273238 chr19 39913968 39913968 G C PLEKHG2 Nonsynonymous SNV E699D 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 273239 chr2 202154468 202154468 T C rs200570912 FLACC1 Nonsynonymous SNV E328G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 273240 chr9 125760914 125760914 A G rs752302741 RABGAP1 Nonsynonymous SNV I415V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 273241 chr19 40520799 40520801 CCC - rs540685002 ZNF546 T515del 0.003 0 0 0 4 0 0 0 0 0 0 0 273242 chr2 206590654 206590654 C T rs79750907 NRP2 Nonsynonymous SNV P280S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28.2 273243 chr2 111411047 111411047 T G BUB1 Nonsynonymous SNV N624H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 273244 chr2 242541392 242541392 G A rs764926525 THAP4 Synonymous SNV G99G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 273245 chr2 11738837 11738837 G A GREB1 Synonymous SNV E728E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.66 273246 chr2 25472558 25472558 C G DNMT3A Nonsynonymous SNV V14L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.996 273247 chr9 136310924 136310924 C T rs782111896 ADAMTS13 Synonymous SNV S905S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 273248 chr9 136913532 136913532 C T rs199548885 BRD3 Synonymous SNV T253T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 273249 chr14 54908036 54908036 T C CNIH1 Nonsynonymous SNV T4A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 273250 chr14 55169254 55169254 C G rs759810621 SAMD4A Nonsynonymous SNV S224C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 273251 chr2 220099973 220099973 G A rs774352425 ANKZF1 Nonsynonymous SNV A334T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 273252 chr2 136719062 136719062 T C DARS1 Nonsynonymous SNV Q75R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 273253 chr9 139350179 139350179 C T rs774548304 SEC16A Nonsynonymous SNV E1911K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 273254 chr2 234675692 234675692 T - rs756697968 UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 Y293Tfs*73 0.001 0 0 0 1 0 0 0 0 0 0 0 273255 chr2 234675694 234675705 CATTAATGCTTC - rs763644438 UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 I294_S297del 0.001 0 0 0 1 0 0 0 0 0 0 0 273256 chr14 60581887 60581887 A T rs868009019 PCNX4 Nonsynonymous SNV E121D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.187 273257 chr9 139992312 139992312 G A rs768544681 MAN1B1 Nonsynonymous SNV G218D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.075 273258 chr2 15644284 15644284 G A rs918078623 NBAS Synonymous SNV R313R 0 0 0 2 0 0 0.005 0 0 0 0 0 12.45 273259 chr2 38297867 38297867 A T rs368552668 CYP1B1 X544K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 273260 chr11 62105549 62105549 G A rs371350994 ASRGL1 Nonsynonymous SNV G34S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.1 273261 chr11 62490157 62490157 A G rs372496414 HNRNPUL2 Synonymous SNV D337D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.734 273262 chr14 64989071 64989071 A G rs144629759 ZBTB1 Synonymous SNV K283K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 273263 chr2 160287465 160287465 T C rs369553325 BAZ2B Synonymous SNV P638P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.75 273264 chr9 20819846 20819846 C G rs753416369 FOCAD Nonsynonymous SNV P503A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 273265 chr2 48725657 48725657 C T rs753522402 PPP1R21 Nonsynonymous SNV S542F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 273266 chr9 20978338 20978338 G T FOCAD Nonsynonymous SNV G1421V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 273267 chr2 165768213 165768213 A G rs759201954 SLC38A11 Nonsynonymous SNV F177S 0 0 0 1 0 0 0.003 0 0 0 0 0 29 273268 chr2 167269082 167269082 C A SCN7A Synonymous SNV L1188L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.01 273269 chr2 233899218 233899218 C T rs774529131 NEU2 Synonymous SNV L198L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 273270 chr2 56420307 56420307 C G CCDC85A Nonsynonymous SNV S324R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 273271 chr2 26502011 26502011 G C rs530807623 HADHB Synonymous SNV A198A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.668 273272 chr14 75572657 75572657 T C rs773467950 NEK9 Nonsynonymous SNV Q536R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 273273 chr9 34709591 34709591 T C rs749954967 CCL21 Nonsynonymous SNV T93A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 273274 chr9 35375164 35375164 T C rs375685578 UNC13B Nonsynonymous SNV M75T 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 273275 chr9 35561214 35561214 C T rs781119783 RUSC2 Synonymous SNV G584G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 273276 chr2 71625864 71625864 C A rs141861784 ZNF638 Nonsynonymous SNV T821K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 273277 chr11 66472585 66472585 C T rs200016211 SPTBN2 Nonsynonymous SNV R721H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.6 273278 chr2 72359473 72359473 G T rs773244226 CYP26B1 Synonymous SNV I399I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.791 273279 chr2 74043398 74043398 G T C2orf78 Nonsynonymous SNV G683V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 273280 chr2 80529696 80529696 C T rs144531548 LRRTM1 Nonsynonymous SNV E417K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 273281 chr2 85578098 85578098 A - rs534908680 RETSAT F134Lfs*62 0.001 0.003 0 0 1 1 0 0 0 0 0 0 273282 chr2 242814847 242814847 C T rs202014146 RTP5 Synonymous SNV A380A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 273283 chr2 26203468 26203468 T C rs763562759 KIF3C Nonsynonymous SNV N440S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.68 273284 chr9 89699410 89699410 C T rs116809829 LOC494127 0 0 0.007 0 0 0 0 2 0 0 0 0 5.018 273285 chr2 27804356 27804356 C T rs573465627 C2orf16 Synonymous SNV R1639R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 273286 chr9 97873570 97873570 G A rs112446681 FANCC Nonsynonymous SNV R463C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.233 273287 chr2 28561330 28561330 A G rs148732163 BABAM2 Nonsynonymous SNV T368A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.21 273288 chr9 98211588 98211588 G A rs62637630 PTCH1 Synonymous SNV G1137G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.72 273289 chr9 98783187 98783187 T C rs115392372 LINC00092 0 0 0.003 0 0 0 0 1 0 0 0 0 1.706 273290 chr9 99212740 99212740 - GGC rs753920168 HABP4 A65_G66insA 0 0 0.003 0 0 0 0 1 0 0 0 0 273291 chrM 2224 2224 T C RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 273292 chr3 101080654 101080654 T C rs372528693 SENP7 Nonsynonymous SNV I346V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.475 273293 chr14 104407883 104407883 A T RD3L Nonsynonymous SNV N50K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 273294 chrX 103495262 103495262 G A rs148783552 ESX1 Nonsynonymous SNV R290C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.337 273295 chr2 198436871 198436871 C T rs113654413 RFTN2 Nonsynonymous SNV R456Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.48 273296 chr2 201477354 201477354 G A rs149229670 AOX1 Nonsynonymous SNV R429Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 273297 chr2 39030057 39030057 C T rs376956942 DHX57 Nonsynonymous SNV V1171M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 273298 chrX 135754221 135754221 A G rs759440067 ARHGEF6 Nonsynonymous SNV I544T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 273299 chrX 139174142 139174142 C T rs772915098 LOC389895 Nonsynonymous SNV L81F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.27 273300 chrX 148037363 148037363 C A rs149492076 AFF2 Synonymous SNV A237A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.324 273301 chr2 210640736 210640736 A G rs778361499 UNC80 Nonsynonymous SNV T89A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.86 273302 chrX 2936622 2936622 A G rs199751114 ARSH Nonsynonymous SNV H271R 0 0 0.014 0 0 0 0 4 0 0 1 0 22.1 273303 chr19 56539256 56539256 G A rs200554283 NLRP5 Nonsynonymous SNV V553I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.045 273304 chrX 47082672 47082672 C T rs17550472 CDK16 Nonsynonymous SNV P60S 0.003 0 0.007 0 4 0 0 2 1 0 0 0 Benign 24 273305 chrX 47835837 47835837 G A rs782567598 ZNF182 Nonsynonymous SNV A531V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 273306 chr19 57327770 57327770 A G rs144022327 PEG3 Synonymous SNV N525N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.239 273307 chr2 220283400 220283400 C A rs375719734 DES Nonsynonymous SNV S72R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.1 273308 chr15 43335572 43335572 A G UBR1 Nonsynonymous SNV Y564H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 273309 chrX 54492207 54492207 G A rs767928601 FGD1 Synonymous SNV N473N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.404 273310 chrX 70712144 70712144 G A rs183964542 INGX 0 0 0.007 0 0 0 0 2 0 0 0 0 7.218 273311 chr2 223789237 223789237 C T rs145813997 ACSL3 Nonsynonymous SNV R406C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 273312 chr15 45558346 45558346 T C SLC28A2 Nonsynonymous SNV I310T 0 0.003 0 0 0 1 0 0 0 0 0 0 28 273313 chrX 84526830 84526830 T C rs970923520 ZNF711 Nonsynonymous SNV M761T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.05 273314 chr15 57213268 57213268 A G rs766456269 TCF12 Synonymous SNV T40T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.933 273315 chr3 1425007 1425007 T C CNTN6 Nonsynonymous SNV L707P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 273316 chr15 62360907 62360907 C T rs749090926 C2CD4A Synonymous SNV A365A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 273317 chr15 63354817 63354817 T C TPM1 Synonymous SNV L213L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 273318 chr10 1089635 1089635 C T rs144262408 IDI2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.383 273319 chr10 1089795 1089795 T C rs141491506 IDI2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.405 273320 chr10 11330456 11330456 G A rs199984870 CELF2 Nonsynonymous SNV S71N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 273321 chr3 118624489 118624489 A T IGSF11 Nonsynonymous SNV N219K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 273322 chr3 15080702 15080702 T C rs773793784 NR2C2 Synonymous SNV Y528Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 273323 chr2 238657876 238657876 C T rs200816124 LRRFIP1 Nonsynonymous SNV T75M 0 0 0 2 0 0 0.005 0 0 0 0 0 34 273324 chr15 66824672 66824672 A G rs199947479 ZWILCH Nonsynonymous SNV I301V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 273325 chr10 118215294 118215294 C A rs144686516 PNLIPRP3 Nonsynonymous SNV L173M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.73 273326 chr15 74219544 74219544 C G rs752134270 LOXL1 Synonymous SNV A140A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.97 273327 chr2 241903063 241903063 G A CROCC2 Nonsynonymous SNV G1060R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.548 273328 chr12 7023175 7023175 - C rs782692926 LRRC23 Frameshift insertion R295Qfs*38 0 0 0 1 0 0 0.003 0 0 0 0 0 273329 chr10 126205829 126205829 C T rs61738754 LHPP Synonymous SNV T235T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.66 273330 chr12 7456944 7456944 G A rs772162110 ACSM4 Nonsynonymous SNV R6H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.737 273331 chr2 26689627 26689627 C T rs781294607 OTOF Synonymous SNV P795P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 273332 chr15 84705758 84705758 T C ADAMTSL3 0 0.003 0 0 0 1 0 0 0 0 0 0 15.76 273333 chr12 10954600 10954600 C T rs371172645 TAS2R7 Synonymous SNV T190T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.402 273334 chr10 135280799 135280799 G A SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.217 273335 chr10 17107588 17107588 A G rs1027148504 CUBN Synonymous SNV L1020L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.135 273336 chr3 195481127 195481127 C G rs201716872 MUC4 Nonsynonymous SNV E808D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 273337 chr3 195481199 195481199 G A MUC4 Synonymous SNV C784C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.965 273338 chr2 3816950 3816950 G A rs557310721 DCDC2C Synonymous SNV A167A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.534 273339 chr2 44428509 44428509 A G PPM1B Synonymous SNV A57A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.173 273340 chr10 31812932 31812932 G A rs751487849 ZEB1 Synonymous SNV P817P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.9 273341 chr10 31816024 31816024 - GAA rs772066684 ZEB1 E997_V998insE 0 0 0.003 0 0 0 0 1 0 0 0 0 273342 chr3 127396071 127396071 C T rs764388156 ABTB1 Nonsynonymous SNV P93L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.56 273343 chr15 100272166 100272166 G T rs564427297 LYSMD4 Synonymous SNV G13G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.47 273344 chr3 36897679 36897679 T C rs754610737 TRANK1 Synonymous SNV V1134V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 273345 chr10 35456699 35456699 G A rs745733796 CREM Nonsynonymous SNV E16K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 273346 chr10 44345430 44345430 C G rs80145431 LINC00619 0 0 0.003 0 0 0 0 1 0 0 0 0 3.322 273347 chr15 101791443 101791443 G T rs373485537 CHSY1 Synonymous SNV P73P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.817 273348 chr2 63206344 63206344 C T rs143970378 EHBP1 Nonsynonymous SNV R828W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 273349 chr16 601653 601653 C T rs144075530 CAPN15 Synonymous SNV G778G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 273350 chr3 172353735 172353735 C T NCEH1 Nonsynonymous SNV G61R 0.002 0 0 0 2 0 0 0 0 0 0 0 34 273351 chr12 49992644 49992644 A G rs140386687 FAM186B Nonsynonymous SNV I753T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 273352 chr16 1365687 1365687 G A rs147745321 UBE2I Synonymous SNV R61R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.63 273353 chr3 44284925 44284925 T C TOPAZ1 Synonymous SNV L309L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 273354 chr16 1394822 1394822 C T rs148966323 BAIAP3 Nonsynonymous SNV T558I 0 0.003 0.007 0 0 1 0 2 0 0 0 0 25.2 273355 chr10 50681043 50681043 G A rs142580756 ERCC6 Nonsynonymous SNV T914M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 28.8 273356 chr12 52283160 52283160 C T rs181860697 ANKRD33 Synonymous SNV H42H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.99 273357 chr3 186504916 186504916 - AATGGAAGTTGGATACACTTTGTGACTTGTACGAGACACTGACCATTACACAGGCTGTTATTTTTCTCAATACGAGGCGCA EIF4A2 K285_V286insWKLDTLCDLYETLTITQAVIFLNTRRK 0.002 0 0 0 2 0 0 0 0 0 0 0 273358 chr3 189838340 189838340 C T P3H2 Nonsynonymous SNV E61K 0.002 0 0 0 2 0 0 0 0 0 0 0 7.927 273359 chr10 64974815 64974815 T C rs528244230 JMJD1C Nonsynonymous SNV N152S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.232 273360 chr16 2550292 2550292 C T rs184639841 TBC1D24 Synonymous SNV Y436Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.23 273361 chr2 88482581 88482581 C G rs773009599 THNSL2 Nonsynonymous SNV L198V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.7 273362 chr3 38793952 38793952 A G rs771671647 SCN10A Nonsynonymous SNV F505L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.3 273363 chr16 3189048 3189048 C T rs774159915 ZNF213 Nonsynonymous SNV R224W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 273364 chr3 48730550 48730550 A G rs61754207 IP6K2 Synonymous SNV L89L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.236 273365 chr12 125478461 125478463 AGA - rs781335758 BRI3BP K43del 0.001 0 0 0 1 0 0 0 0 0 0 0 273366 chr3 51864611 51864611 G A rs182141445 IQCF3 Nonsynonymous SNV V87I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 4.46 273367 chr10 79396520 79396520 A G rs200150931 KCNMA1 Nonsynonymous SNV F208S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.308 273368 chr10 79397370 79397370 - GCCGCCGCCGCC KCNMA1 G10_S11insGGGG 0 0 0.003 0 0 0 0 1 0 0 0 0 273369 chr12 56814623 56814623 C T rs763159822 TIMELESS Nonsynonymous SNV R1027Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 273370 chr16 15809105 15809105 C T rs146024732 MYH11 Synonymous SNV S1843S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.44 273371 chr12 57921966 57921966 C A rs202188859 MBD6 Nonsynonymous SNV P815T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 273372 chr12 58157886 58157886 T G CYP27B1 Nonsynonymous SNV K404Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 273373 chr16 23160214 23160214 G A rs760218988 USP31 Synonymous SNV G126G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.85 273374 chr16 23205589 23205589 G A rs773317054 SCNN1G Nonsynonymous SNV E303K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 273375 chr12 68051766 68051766 G A DYRK2 Nonsynonymous SNV G287D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 273376 chr16 25251564 25251564 G C rs749636452 ZKSCAN2 Nonsynonymous SNV T826R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 273377 chr12 72025628 72025628 T C rs199662696 ZFC3H1 Nonsynonymous SNV K1134E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 273378 chr16 30389144 30389144 C T rs774741708 MYLPF Nonsynonymous SNV P145S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 273379 chr3 196612660 196612660 C T rs370946094 SENP5 Nonsynonymous SNV P203L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.01 273380 chr16 31087822 31087822 C T ZNF646 Synonymous SNV H59H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.652 273381 chr3 127965789 127965789 G A rs368860399 EEFSEC Nonsynonymous SNV V143M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 273382 chr16 48209257 48209257 C T rs772566323 ABCC11 Nonsynonymous SNV V1204M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 273383 chr16 50368748 50368748 C T rs140345367 BRD7 Nonsynonymous SNV R254Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 273384 chr16 52480086 52480086 C T TOX3 Synonymous SNV K242K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 273385 chr4 110603802 110603802 T G MCUB Nonsynonymous SNV F172L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.332 273386 chr3 50257387 50257387 G A SLC38A3 Nonsynonymous SNV E461K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.2 273387 chr3 70008541 70008541 C T rs748181332 MITF Synonymous SNV H276H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.59 273388 chr11 1078623 1078623 C T rs752375340 MUC2 Synonymous SNV H277H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 273389 chr3 52553378 52553378 C A STAB1 Synonymous SNV P1711P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.11 273390 chr12 110897568 110897568 T C rs763393821 GPN3 Nonsynonymous SNV N125S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.85 273391 chr12 118506327 118506327 - TCCTCC rs538647696 VSIG10 E474_D475insEE 0.001 0 0 2 1 0 0.005 0 0 0 0 1 273392 chr14 20403850 20403850 G T rs764328066 OR4K1 Nonsynonymous SNV V9L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 273393 chr3 97594611 97594611 G A rs1000739029 CRYBG3 Nonsynonymous SNV V1525I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.02 273394 chr3 48520646 48520646 G A rs201243667 SHISA5 Nonsynonymous SNV P78L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.752 273395 chr16 75263683 75263683 G A rs766405948 BCAR1 Nonsynonymous SNV A570V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 273396 chr12 123464787 123464787 T C ARL6IP4 Synonymous SNV P12P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.507 273397 chr16 77775636 77775636 G A rs370570737 NUDT7 Nonsynonymous SNV R116H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.284 273398 chr11 125322258 125322258 T C rs768252510 FEZ1 Synonymous SNV S356S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.987 273399 chr3 52842148 52842148 C G rs891569992 ITIH3 Nonsynonymous SNV D818E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 273400 chr3 184099081 184099081 C T rs138217536 CHRD Nonsynonymous SNV P104L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 273401 chr4 186598179 186598179 G T rs759670875 SORBS2 Nonsynonymous SNV A155E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 273402 chr3 56592936 56592936 - TGGTAT rs533063376 CCDC66 Y25_E26insGI 0 0.003 0 0 0 1 0 0 0 0 0 0 273403 chr3 62258676 62258676 A T PTPRG Nonsynonymous SNV I1080L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 273404 chr3 63965730 63965730 C T rs755234890 ATXN7 Synonymous SNV S68S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 273405 chr4 154625214 154625214 C T rs754023279 TLR2 Synonymous SNV A385A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.853 273406 chr3 69037684 69037684 C T EOGT Synonymous SNV R323R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 273407 chr13 30096467 30096467 C T rs150705194 SLC7A1 Synonymous SNV S392S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.15 273408 chr16 88783580 88783580 C T rs370296725 PIEZO1 Nonsynonymous SNV V2171I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 273409 chr16 88787745 88787745 C A PIEZO1 Nonsynonymous SNV V1833L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.909 273410 chr4 15534910 15534910 G C CC2D2A Nonsynonymous SNV E521Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 273411 chr3 193343950 193343950 G A rs143918255 OPA1 Nonsynonymous SNV A196T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.91 273412 chr16 88947736 88947736 G T rs759501623 CBFA2T3 Synonymous SNV P369P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.936 273413 chr4 15602994 15602994 C G rs367841700 CC2D2A Synonymous SNV P1603P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.2 273414 chr4 152499140 152499140 C T rs762607344 FAM160A1 Nonsynonymous SNV A215V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 273415 chr4 3768357 3768357 G C ADRA2C Synonymous SNV A8A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.117 273416 chr4 38933888 38933888 G A rs145069128 FAM114A1 Synonymous SNV A245A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 273417 chr3 33174163 33174163 C T rs115198029 CRTAP Nonsynonymous SNV L347F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 273418 chr11 34180858 34180858 C G ABTB2 Nonsynonymous SNV K894N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 273419 chr4 55980326 55980326 C G rs142474707 KDR Synonymous SNV G255G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.455 273420 chr4 11401505 11401505 C T rs141585699 HS3ST1 Nonsynonymous SNV R42H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.374 273421 chr4 6302843 6302843 G A rs150894674 WFS1 Nonsynonymous SNV V441M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.98 273422 chr3 42229605 42229605 G A TRAK1 Synonymous SNV E109E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 273423 chr4 71068552 71068552 C G rs777301542 ODAM Stop gain S243X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 273424 chr4 76881285 76881285 T C rs143308047 SDAD1 Nonsynonymous SNV K436E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.76 273425 chr4 24810155 24810155 C A rs527861291 CCDC149 Synonymous SNV P482P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 273426 chr4 37358062 37358062 G C rs147232666 NWD2 Synonymous SNV L105L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.712 273427 chr3 45518066 45518066 A G rs149441186 LARS2 Nonsynonymous SNV H322R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.291 273428 chr4 7811391 7811391 G A rs745572497 AFAP1 Nonsynonymous SNV P335L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 273429 chr17 7188431 7188431 C T rs762512492 SLC2A4 Nonsynonymous SNV R349C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 273430 chr17 7324530 7324530 T C SPEM1 Nonsynonymous SNV I179T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 273431 chr4 82064090 82064090 G A rs763997624 PRKG2 Nonsynonymous SNV S2F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 273432 chr17 7416956 7416956 T C rs774886697 POLR2A Synonymous SNV S1791S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.422 273433 chr17 7733639 7733639 C T rs749324433 DNAH2 Nonsynonymous SNV R3959C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 273434 chr4 85738579 85738579 G A rs769056903 WDFY3 Nonsynonymous SNV P618L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 273435 chr4 40099168 40099168 C T N4BP2 Nonsynonymous SNV L70F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 273436 chr4 8602958 8602958 C T rs755140441 CPZ Nonsynonymous SNV S66F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 273437 chr4 88036358 88036358 G T rs137893463 AFF1 Nonsynonymous SNV R422S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.38 273438 chr4 41748283 41748283 G T rs547677836 PHOX2B Synonymous SNV A162A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.5 273439 chr4 89199688 89199688 C A rs775889692 PPM1K Nonsynonymous SNV Q16H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 273440 chr4 956595 956595 G A DGKQ Nonsynonymous SNV P667L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 273441 chr4 55133886 55133886 G A rs147982027 PDGFRA Nonsynonymous SNV V367M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.98 273442 chr3 52965007 52965007 C T rs779006602 SFMBT1 Nonsynonymous SNV A249T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 273443 chr17 16351190 16351190 G A rs755860256 LRRC75A Nonsynonymous SNV R154W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 273444 chr4 177056338 177056338 C G rs73874936 WDR17 Nonsynonymous SNV T393S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 273445 chr17 17891261 17891261 A G DRC3 Nonsynonymous SNV N98S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 273446 chr17 17942248 17942248 A G rs145259517 ATPAF2 Nonsynonymous SNV M27T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 273447 chr4 184600605 184600605 C G rs148833310 TRAPPC11 Nonsynonymous SNV L311V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 273448 chr3 97486968 97486968 G C rs751957701 ARL6 Nonsynonymous SNV R6T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.051 273449 chr4 71588311 71588311 G A rs756692658 RUFY3 Synonymous SNV P7P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 273450 chr3 9787279 9787279 C T rs772487324 BRPF1 Nonsynonymous SNV R930W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 273451 chr3 98002045 98002045 A C rs767536609 OR5H2 Nonsynonymous SNV Q105P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.9 273452 chr5 134153311 134153311 G A rs146021738 DDX46 Synonymous SNV P913P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 273453 chr4 84255915 84255915 A G HPSE Synonymous SNV P7P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.352 273454 chr4 3076615 3076615 - CAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 273455 chr11 58979573 58979573 A G rs748797198 MPEG1 Nonsynonymous SNV Y256H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 273456 chr5 13717526 13717526 G A rs758897089 DNAH5 Synonymous SNV F4201F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 273457 chr4 100574288 100574288 G A rs749105296 C4orf54 Synonymous SNV A506A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.556 273458 chr11 59211259 59211259 G A rs116237424 OR5A1 Synonymous SNV V206V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.642 273459 chr11 59225131 59225131 G T rs183692233 OR4D6 Nonsynonymous SNV R233L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.62 273460 chr11 59861532 59861532 C A rs535630 MS4A2 Nonsynonymous SNV N166K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 273461 chr14 55642075 55642075 C T DLGAP5 Synonymous SNV V430V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.08 273462 chr4 81124377 81124377 - GCCGCTGCA PRDM8 A598_G599insAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 273463 chr4 110427562 110427562 A G rs902406235 SEC24B Nonsynonymous SNV R488G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 273464 chr4 40752887 40752887 C G rs141937399 NSUN7 Nonsynonymous SNV I59M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.043 273465 chr4 8239236 8239236 C G rs150050649 SH3TC1 Nonsynonymous SNV L1122V 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 273466 chr14 59931732 59931732 G T GPR135 Synonymous SNV G71G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.002 273467 chr14 60193648 60193648 T C rs753843821 RTN1 Nonsynonymous SNV N585S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 273468 chr11 60886761 60886761 G T rs773426771 CD5 Synonymous SNV V116V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.522 273469 chr4 8394112 8394112 C T rs371547581 ACOX3 Synonymous SNV Q416Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.98 273470 chr11 61109303 61109303 G C rs150473332 TKFC Nonsynonymous SNV G192R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 273471 chr14 61857984 61857984 C T PRKCH Synonymous SNV T135T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.16 273472 chr17 37842254 37842254 T C rs141817321 PGAP3 Nonsynonymous SNV D67G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 273473 chr4 5564644 5564644 G A rs368103321 EVC2 Synonymous SNV H1206H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 273474 chr11 62285635 62285635 G A rs370676825 AHNAK Synonymous SNV S5418S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.433 273475 chr17 38178679 38178679 G A rs149459087 MED24 Nonsynonymous SNV R818C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 273476 chr14 66200069 66200069 A G rs368186422 FUT8 Synonymous SNV A297A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.729 273477 chr4 8872985 8872985 C T HMX1 Nonsynonymous SNV R119Q 0.002 0 0 0 2 0 0 0 0 0 0 0 33 273478 chr14 68272303 68272303 G A rs1035670178 ZFYVE26 Synonymous SNV D350D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 273479 chr5 141021270 141021270 G A rs767554840 FCHSD1 Nonsynonymous SNV P669L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 273480 chr5 118969703 118969703 C T rs201150712 FAM170A Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 273481 chr5 118969751 118969751 C G rs199769553 FAM170A Nonsynonymous SNV S56C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 273482 chr4 62935958 62935958 T C ADGRL3 Nonsynonymous SNV Y1221H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.33 273483 chr11 63987709 63987709 G A rs140907017 FERMT3 Nonsynonymous SNV D408N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 273484 chr11 64112469 64112469 C A CCDC88B Nonsynonymous SNV A819E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 273485 chr5 128864285 128864285 G C rs778613452 ADAMTS19 Nonsynonymous SNV G415R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 273486 chr5 107356691 107356691 A T FBXL17 Nonsynonymous SNV V586D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 273487 chr17 39623572 39623572 T C rs910420489 KRT32 Synonymous SNV T2T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.297 273488 chr4 73990979 73990979 G A rs757970489 ANKRD17 Synonymous SNV H844H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.99 273489 chr4 76782025 76782025 G T rs753071560 PPEF2 Nonsynonymous SNV S686Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 273490 chr4 76782026 76782026 A T rs758096580 PPEF2 Nonsynonymous SNV S686T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.2 273491 chr5 137542363 137542363 T C rs773065552 CDC23 Nonsynonymous SNV Q82R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 273492 chr11 65824821 65824821 C T rs77713633 SF3B2 Nonsynonymous SNV P251L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 273493 chr11 66006677 66006677 G A rs200716334 PACS1 Synonymous SNV S786S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.48 273494 chr11 66109019 66109019 G A rs777193514 BRMS1 Nonsynonymous SNV S72L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 273495 chr5 138728846 138728846 C G rs960981866 PROB1 Nonsynonymous SNV G642A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 273496 chr5 139193032 139193032 C T rs199679832 PSD2 Synonymous SNV S170S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 273497 chr5 132161402 132161402 C T SHROOM1 Nonsynonymous SNV R144Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 273498 chr4 860772 860772 G A GAK Synonymous SNV S869S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.82 273499 chr4 88766439 88766439 A G rs143977920 MEPE Nonsynonymous SNV E140G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24.5 273500 chr17 46929928 46929928 A G rs139222685 CALCOCO2 Nonsynonymous SNV T213A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 273501 chr4 186231836 186231836 A G rs200119083 SNX25 Nonsynonymous SNV M240V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.29 273502 chr17 48560745 48560745 C T rs145694495 RSAD1 Nonsynonymous SNV R317W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 273503 chr11 74800072 74800072 T C rs111801887 OR2AT4 Synonymous SNV S229S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.637 273504 chr4 22390393 22390393 A G rs141318113 ADGRA3 Synonymous SNV N967N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 273505 chr5 141019058 141019058 C T rs531905510 RELL2 Synonymous SNV D115D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.013 273506 chr5 141019758 141019758 T C rs569973650 RELL2 Nonsynonymous SNV S259P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.76 273507 chr17 61568656 61568656 C T ACE Synonymous SNV N368N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.17 273508 chr15 34160005 34160007 CAT - AVEN D221del 0 0 0 4 0 0 0.01 0 0 0 0 0 273509 chr4 38138834 38138834 A G rs962513999 TBC1D1 Nonsynonymous SNV M141V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 273510 chr5 148715184 148715184 G A rs143117370 AFAP1L1 Nonsynonymous SNV V695I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.161 273511 chr5 38435294 38435294 A G rs202234341 EGFLAM Nonsynonymous SNV N507S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.202 273512 chr5 149436870 149436870 C A CSF1R Nonsynonymous SNV A767S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 273513 chr11 94759260 94759260 G C KDM4E Nonsynonymous SNV G180A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 273514 chr17 72239586 72239586 C T rs151145678 TTYH2 Nonsynonymous SNV R216C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 273515 chr17 73282427 73282427 G A rs535476833 SLC25A19 Synonymous SNV H82H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 273516 chr5 159822003 159822003 G T rs61740683 ZBED8 Synonymous SNV I165I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.989 273517 chr5 160097633 160097633 C T rs180789893 ATP10B Nonsynonymous SNV R143H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 273518 chr5 140801386 140801386 G C rs752366104 PCDHGA11 Nonsynonymous SNV E198Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 273519 chr5 169028818 169028818 - TT SPDL1 Frameshift insertion K620Nfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 273520 chr5 169028819 169028819 - CAAA SPDL1 Frameshift insertion D621Qfs*29 0.002 0 0 0 2 0 0 0 0 0 0 0 273521 chr5 169028823 169028823 - AAA SPDL1 Stop gain S622del 0.002 0 0 0 2 0 0 0 0 0 0 0 273522 chr5 169028824 169028824 - TGA SPDL1 *623delinsD* 0.002 0 0 0 2 0 0 0 0 0 0 0 273523 chr17 76134715 76134715 C T rs141186150 TMC8 Synonymous SNV V575V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.44 273524 chr5 145890178 145890178 G A rs772350693 TCERG1 Synonymous SNV S1069S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.431 273525 chr5 145895387 145895387 G A rs145255868 GPR151 Nonsynonymous SNV T97M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.131 273526 chr15 52404902 52404902 G A rs770973408 BCL2L10 Nonsynonymous SNV R8C 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 20.7 273527 chr5 146017847 146017847 G T rs142634233 PPP2R2B Synonymous SNV R256R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 273528 chr5 72313079 72313079 T C rs143520046 FCHO2 Nonsynonymous SNV V214A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 273529 chr5 35871211 35871211 G A rs201790329 IL7R Nonsynonymous SNV D145N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 27.7 273530 chr12 112337979 112337979 A G rs530472095 ADAM1A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.559 273531 chr5 74990636 74990636 T C rs759006713 POC5 Synonymous SNV L153L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.872 273532 chr5 75913666 75913666 A G rs147969213 F2RL2 Nonsynonymous SNV L267P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 273533 chr12 113565626 113565626 C T rs200952426 RASAL1 Nonsynonymous SNV D97N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 273534 chr12 113612459 113612459 C T rs369837410 DDX54 Nonsynonymous SNV E352K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 273535 chr5 41934110 41934110 T C rs141675593 FBXO4 Nonsynonymous SNV Y237H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.3 273536 chr12 113758868 113758868 C T rs376784341 SLC8B1 Nonsynonymous SNV A119T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.72 273537 chr12 117014105 117014105 G A rs200364642 MAP1LC3B2 Nonsynonymous SNV G120R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 273538 chr5 79031990 79031990 G A rs969602860 CMYA5 Nonsynonymous SNV A2468T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.58 273539 chr5 52157347 52157347 A G rs61757093 ITGA1 Synonymous SNV P83P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 9.766 273540 chr12 121434462 121434462 C A rs376044120 HNF1A Nonsynonymous SNV P409H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 273541 chr5 180475272 180475272 G A rs771087135 BTNL9 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 273542 chr12 121712267 121712267 C T rs766098875 CAMKK2 Synonymous SNV G21G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 273543 chr12 122252355 122252355 T A SETD1B Nonsynonymous SNV L745Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.756 273544 chr15 71196941 71196941 T C LRRC49 Nonsynonymous SNV L121S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.3 273545 chr18 2688674 2688674 T G rs779413791 SMCHD1 Nonsynonymous SNV S268A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 273546 chr5 35876296 35876296 G A IL7R Nonsynonymous SNV R363K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.099 273547 chr18 6974938 6974938 A G rs748978032 LAMA1 Nonsynonymous SNV I2196T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 273548 chr5 36064354 36064354 G A rs755622666 UGT3A2 Nonsynonymous SNV P65S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 273549 chr12 13128274 13128274 G A rs76698360 HEBP1 Nonsynonymous SNV R180W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 273550 chr12 131471704 131471704 C T rs530604865 ADGRD1 Synonymous SNV N185N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.8 273551 chr6 101296321 101296321 T C rs766292163 ASCC3 Synonymous SNV A168A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.578 273552 chr6 10406938 10406938 T G TFAP2A-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 9.725 273553 chr12 132209970 132209970 C T rs758703880 SFSWAP Synonymous SNV H209H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 273554 chr6 10529266 10529266 A G rs199586171 GCNT2 Nonsynonymous SNV N41S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 273555 chr18 10671609 10671609 A G rs546167077 PIEZO2 Nonsynonymous SNV L2725P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 273556 chr5 45396654 45396654 G A rs369683016 HCN1 Synonymous SNV V390V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.04 273557 chr12 132633347 132633347 A G NOC4L Nonsynonymous SNV K270E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 273558 chr18 12030426 12030426 C T rs370481001 IMPA2 Nonsynonymous SNV T279M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 273559 chr5 75596655 75596655 T C rs375494365 SV2C Nonsynonymous SNV Y580H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 273560 chr5 112256919 112256919 G C rs368322083 REEP5 Nonsynonymous SNV F51L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 273561 chr5 79755260 79755260 A G rs138937288 ZFYVE16 Nonsynonymous SNV N1324S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 13.89 273562 chr5 79855535 79855535 A C rs142636546 ANKRD34B Nonsynonymous SNV S102A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 9.84 273563 chr12 26806975 26806975 T C rs372001719 ITPR2 Nonsynonymous SNV I892V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 273564 chr18 46889536 46889536 T A rs758217498 DYM Synonymous SNV P163P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.17 273565 chr5 92923651 92923651 C G NR2F1 Synonymous SNV T164T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 273566 chr5 95091419 95091419 C T rs148028220 RHOBTB3 Synonymous SNV A334A 0.003 0 0 0 3 0 0 0 0 0 0 0 12.77 273567 chr5 96118857 96118857 C T rs201805082 ERAP1 Nonsynonymous SNV R728Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 273568 chr6 132892200 132892200 C A rs201894980 TAAR6 Nonsynonymous SNV A247D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 273569 chr5 78076376 78076376 T C rs35714924 ARSB Synonymous SNV E482E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.159 273570 chr12 32135618 32135618 A C RESF1 Nonsynonymous SNV I577L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 273571 chr5 134294751 134294751 G A PCBD2 Nonsynonymous SNV V80I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 273572 chr18 55317665 55317665 C T ATP8B1 Synonymous SNV V1105V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 273573 chr5 79025028 79025028 G A rs62621858 CMYA5 Nonsynonymous SNV R147Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 28 273574 chr5 79030926 79030926 T C rs76702556 CMYA5 Nonsynonymous SNV I2113T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.19 273575 chr5 65077202 65077202 A C NLN Nonsynonymous SNV E259A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 273576 chr12 50501398 50501398 G A rs565703593 GPD1 Nonsynonymous SNV D198N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.22 273577 chr5 95236473 95236473 G A rs138311898 ELL2 Nonsynonymous SNV P293L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 273578 chr5 96244766 96244766 C G ERAP2 Nonsynonymous SNV S660W 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 273579 chr6 15497346 15497346 C T rs373760730 JARID2 Synonymous SNV C458C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.605 273580 chr20 62367199 62367199 C G rs145192304 ZGPAT Synonymous SNV L488L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.31 273581 chr6 100897501 100897501 G A rs754523193 SIM1 Synonymous SNV T141T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.77 273582 chr5 72469892 72469892 A G rs757772353 TMEM174 Nonsynonymous SNV N211S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 273583 chr19 548630 548630 C A rs77680573 GZMM Nonsynonymous SNV R62S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.631 273584 chr5 141053176 141053176 G A ARAP3 Stop gain Q300X 0 0 0 2 0 0 0.005 0 0 0 0 0 37 273585 chr5 142586985 142586985 A C ARHGAP26 Synonymous SNV P737P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.248 273586 chr19 808673 808673 C T rs116167690 PTBP1 Synonymous SNV N432N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.736 273587 chr19 852907 852907 C T rs17216628 ELANE Synonymous SNV G33G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.631 273588 chr19 1009251 1009251 G A rs200419950 GRIN3B Nonsynonymous SNV V928M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.699 273589 chr5 150413348 150413348 G A TNIP1 Nonsynonymous SNV R481C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 29.2 273590 chr6 18258544 18258544 T C rs373964620 DEK Nonsynonymous SNV I80V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 273591 chr19 1295697 1295697 C G rs145065065 EFNA2 Synonymous SNV G98G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.7 273592 chr6 12164143 12164143 G A rs368105021 HIVEP1 Nonsynonymous SNV A2536T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.25 273593 chr19 1481787 1481787 G C rs114544630 PCSK4 Nonsynonymous SNV P747A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.149 273594 chr19 1496630 1496630 G A rs112756320 REEP6 Synonymous SNV P186P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.204 273595 chr19 1507625 1507625 A G rs948219243 ADAMTSL5 Nonsynonymous SNV W207R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.4 273596 chr12 57397619 57397619 C A rs770826621 ZBTB39 Nonsynonymous SNV Q361H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 273597 chr6 152734579 152734579 G A SYNE1 Synonymous SNV A2053A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 273598 chr19 1531736 1531736 G A rs150328666 PLK5 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.9 273599 chr19 1592607 1592607 G A rs139676994 MBD3 Synonymous SNV C8C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 6.788 273600 chr19 1785666 1785666 G A rs144109112 ATP8B3 Synonymous SNV Y1028Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.087 273601 chr19 1796880 1796880 T C rs201492296 ATP8B3 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.35 273602 chr19 1820006 1820006 G A rs143298291 REXO1 Synonymous SNV I859I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.069 273603 chr6 129468186 129468186 C T rs144053918 LAMA2 Nonsynonymous SNV A301V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.51 273604 chr19 2425085 2425085 A G TMPRSS9 Nonsynonymous SNV I901V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 273605 chr19 2989639 2989639 C T rs140669738 TLE6 Nonsynonymous SNV P244L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 273606 chr19 3019310 3019310 C T rs377647599 TLE2 Nonsynonymous SNV R175H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.34 273607 chr19 3767366 3767366 G A rs145937356 MRPL54 Nonsynonymous SNV R131Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 273608 chr12 69021111 69021111 - C rs199774560 SNORA70G 0 0 0.014 0 0 0 0 4 0 0 0 0 273609 chr6 110768075 110768075 C G SLC22A16 0 0.003 0 0 0 1 0 0 0 0 0 0 25 273610 chr12 7254445 7254445 T C rs755024712 C1RL Nonsynonymous SNV H180R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.23 273611 chr5 176024322 176024322 C G rs541701077 GPRIN1 Synonymous SNV S838S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.281 273612 chr12 81777924 81777924 T G rs770937368 PPFIA2 Nonsynonymous SNV K189Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 273613 chr19 8176867 8176867 A T FBN3 Nonsynonymous SNV C1319S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 273614 chr5 1881970 1881970 A G IRX4 Synonymous SNV Y83Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.854 273615 chr19 8368964 8368964 G A rs377236965 CD320 Nonsynonymous SNV P51S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.65 273616 chr6 26463489 26463489 C G BTN2A1 Nonsynonymous SNV L89V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 273617 chr5 32270957 32270957 C T MTMR12 Nonsynonymous SNV C152Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 273618 chr6 148664344 148664344 C G SASH1 Nonsynonymous SNV D47E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.15 273619 chr13 114531634 114531634 A G rs144103562 GAS6 Synonymous SNV D398D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 273620 chr6 38654736 38654736 C T rs768570333 GLO1 Synonymous SNV Q33Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 273621 chr6 38841116 38841116 C T rs748939836 DNAH8 Synonymous SNV P2311P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.05 273622 chr22 31286844 31286844 G A rs773485526 OSBP2 Nonsynonymous SNV V129M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.8 273623 chr19 9057321 9057321 C A rs202063653 MUC16 Nonsynonymous SNV S10042I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.175 273624 chr19 9060994 9060994 C T rs747893637 MUC16 Nonsynonymous SNV A8818T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 273625 chr16 67699069 67699069 T C rs543005933 ENKD1 Nonsynonymous SNV K95E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 273626 chr6 7248919 7248919 C G RREB1 Nonsynonymous SNV N1594K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 273627 chr6 73951383 73951383 C G rs200762693 KHDC1 Nonsynonymous SNV V122L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 273628 chr6 74019434 74019434 G A KHDC1 Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.686 273629 chr13 46802046 46802046 C T LRRC63 Nonsynonymous SNV T162I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.603 273630 chr6 44148729 44148729 A C rs757579344 CAPN11 Nonsynonymous SNV M622L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.98 273631 chr13 50059770 50059770 T C rs985712792 SETDB2, SETDB2-PHF11 Nonsynonymous SNV F496S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 273632 chr6 46107597 46107597 A T rs200503505 ENPP4 Nonsynonymous SNV M93L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 273633 chr13 52649922 52649922 G A NEK5 Nonsynonymous SNV S565F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 273634 chr6 4995409 4995409 C T rs575359259 RPP40 Nonsynonymous SNV R309Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.617 273635 chr19 11314921 11314921 C T rs763820672 DOCK6 Synonymous SNV A1725A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.87 273636 chr6 90371847 90371847 C G rs142038492 MDN1 Nonsynonymous SNV G4842R 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 18.27 273637 chr6 52943671 52943671 G C FBXO9 Nonsynonymous SNV D138H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 273638 chr13 98662397 98662397 A G rs746861397 IPO5 Synonymous SNV E658E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 273639 chr16 84224966 84224966 - A rs779232602 ADAD2 Frameshift insertion G44Efs*120 0 0 0 1 0 0 0.003 0 0 0 0 0 273640 chr16 84224967 84224967 - CCCGC rs554488585 ADAD2 Frameshift insertion A46Rfs*21 0 0 0 1 0 0 0.003 0 0 0 0 0 273641 chr6 40998212 40998212 G A rs780992462 UNC5CL Nonsynonymous SNV R417W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 273642 chr6 65149239 65149239 C T rs1045693834 EYS Nonsynonymous SNV S1884N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 273643 chr19 14266318 14266318 G A rs541559490 ADGRL1 Synonymous SNV I1049I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 273644 chr5 88027600 88027600 T C MEF2C Synonymous SNV K110K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.043 273645 chr22 50686822 50686823 AG - rs561780178 HDAC10 L309Vfs*60 0.003 0 0 0 3 0 0 0 0 0 0 0 273646 chr14 105396438 105396438 C T rs375258475 PLD4 Nonsynonymous SNV T245M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 273647 chr6 74155278 74155278 T G rs750643153 CGAS Nonsynonymous SNV I284L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 273648 chr5 92956787 92956787 A G FAM172A Nonsynonymous SNV F276S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 273649 chr6 38770968 38770968 A T rs139961713 DNAH8 Nonsynonymous SNV E755V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22 273650 chr6 38775450 38775450 G A rs201654193 DNAH8 Nonsynonymous SNV R855Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.1 273651 chr6 53516619 53516619 G A KLHL31 Nonsynonymous SNV S561L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 273652 chr6 41001731 41001731 C T rs148670174 UNC5CL Nonsynonymous SNV R192H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 273653 chr19 17396308 17396308 G A rs551006830 ANKLE1 Nonsynonymous SNV R445H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 273654 chr6 56506798 56506798 A C DST Nonsynonymous SNV D121E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 273655 chr7 100198503 100198503 C T rs764553639 FBXO24 Nonsynonymous SNV P563L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 273656 chr19 17643089 17643089 T C rs752357483 NIBAN3 Synonymous SNV R68R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.295 273657 chr14 23886573 23886573 C G rs781107230 MHRT 0 0 0.003 0 0 0 0 1 0 0 0 0 5.206 273658 chr14 24004263 24004263 C T ZFHX2 Nonsynonymous SNV G91E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 273659 chr7 102087224 102087224 G A ORAI2 Nonsynonymous SNV E87K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 273660 chr14 31055959 31055959 A G rs745352962 G2E3 Nonsynonymous SNV N25D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 273661 chr6 75898096 75898096 A G rs768698427 COL12A1 Synonymous SNV L327L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.996 273662 chr6 46672977 46672977 T C PLA2G7 Nonsynonymous SNV M368V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 273663 chr19 19654944 19654944 G C rs762823592 CILP2 Nonsynonymous SNV E530D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.624 273664 chr19 19655154 19655154 G C rs780130368 CILP2 Synonymous SNV S600S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 273665 chr14 33684532 33684532 A G NPAS3 Synonymous SNV R65R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.258 273666 chr7 111428747 111428747 G A rs370629123 DOCK4 Synonymous SNV D1124D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 273667 chr14 38679697 38679697 T A rs776582232 SSTR1 Nonsynonymous SNV F368Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.98 273668 chr14 38679698 38679698 C T rs749415157 SSTR1 Synonymous SNV F368F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.815 273669 chr19 23406417 23406417 G A rs73559552 ZNF724 Synonymous SNV S210S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.178 273670 chr19 23836171 23836171 T C rs763230009 ZNF675 Nonsynonymous SNV K522E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.075 273671 chr14 51226979 51226979 T C rs144622574 NIN Synonymous SNV L665L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 273672 chr14 51245506 51245506 C T rs190295991 NIN Nonsynonymous SNV R151H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 273673 chr7 127239545 127239545 C T rs536433642 FSCN3 Stop gain Q411X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 273674 chr6 97246905 97246905 T C rs372860982 GPR63 Nonsynonymous SNV T235A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.394 273675 chr7 128478401 128478401 C A rs773165378 FLNC Nonsynonymous SNV N376K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 273676 chr14 58674719 58674719 C T ACTR10 Synonymous SNV I72I 0 0 0.003 0 0 0 0 1 0 0 0 0 17 273677 chr6 70916952 70916952 G A COL19A1 Nonsynonymous SNV A1135T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.259 273678 chr7 131191054 131191054 C T rs145146486 PODXL Nonsynonymous SNV E394K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.6 273679 chr19 35749864 35749864 T C rs759621100 LSR Synonymous SNV F205F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.958 273680 chr6 152776571 152776571 C T rs76646638 SYNE1 Nonsynonymous SNV R968Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 17.71 273681 chr6 75841719 75841719 T C rs186035636 COL12A1 Synonymous SNV P794P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.026 273682 chr6 155153610 155153610 C T rs763612022 SCAF8 Nonsynonymous SNV P966L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 273683 chr6 155577670 155577670 C T rs200709210 TIAM2 Synonymous SNV T432T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.306 273684 chr2 170402947 170402947 G A rs544410704 FASTKD1 Synonymous SNV S471S 0.004 0 0 1 5 0 0.003 0 0 0 0 0 4.061 273685 chr6 166720889 166720889 - GTCGTACCTGTGCCGCTCGTTGAGCAGCGACACCTTGAGCATCGGCCGCAGG PRR18 Frameshift insertion D248Pfs*176 0 0 0 1 0 0 0.003 0 0 0 0 0 273686 chr7 107790419 107790419 G A rs201024076 NRCAM Nonsynonymous SNV P1147L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 273687 chr15 100252709 100252709 - CAG MEF2A Q352_P353insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 273688 chr19 42855281 42855284 GGGT - rs542292685 MIR8077 0 0.003 0 0 0 1 0 0 0 0 0 0 273689 chr7 113558338 113558338 C T rs557887098 PPP1R3A Synonymous SNV P238P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.335 273690 chr19 44116852 44116852 G T SRRM5 Nonsynonymous SNV K193N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 273691 chr7 115580932 115580932 G T TFEC Synonymous SNV G172G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.936 273692 chr15 21937617 21937617 G A rs868806489 LOC646214 0 0 0.003 0 0 0 0 1 0 0 0 0 2.396 273693 chr7 142564236 142564236 T G rs760298098 EPHB6 Nonsynonymous SNV V195G 0.004 0 0 0 5 0 0 0 0 0 0 0 23.7 273694 chr15 22958190 22958190 G T rs752483527 CYFIP1 Synonymous SNV T180T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 273695 chr7 157926602 157926602 A G rs138693922 PTPRN2 Synonymous SNV T403T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 273696 chr15 25427234 25427234 T C rs895120298 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 1.558 273697 chr15 29969494 29969494 T G LOC100130111 0 0 0.003 0 0 0 0 1 0 0 0 0 7.333 273698 chr7 128034653 128034653 G A rs148875137 IMPDH1 Synonymous SNV S407S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.09 273699 chr6 3019678 3019678 T C rs567572547 HTATSF1P2 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.221 273700 chr7 2262356 2262356 G A rs745395945 MAD1L1 Nonsynonymous SNV R109C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 273701 chr15 40703505 40703505 A G rs749726739 IVD Nonsynonymous SNV N138S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.36 273702 chr19 46914622 46914622 G A rs148450169 CCDC8 Synonymous SNV T482T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.38 273703 chr19 47111761 47111761 G A rs34089805 CALM3 Synonymous SNV P31P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.93 273704 chr7 1197309 1197309 G A ZFAND2A Nonsynonymous SNV P45S 0 0.005 0 0 0 2 0 0 0 0 0 0 12.06 273705 chr7 16840976 16840976 T C rs755644685 AGR2 Synonymous SNV T57T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.067 273706 chr19 48197614 48197614 C T rs781498270 BICRA Synonymous SNV G842G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.65 273707 chr7 18629980 18629980 A G rs200990910 HDAC9 Nonsynonymous SNV I62V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.1 273708 chr19 49120041 49120041 G A rs11554936 RPL18 Nonsynonymous SNV A51V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 273709 chr7 43827517 43827517 T G BLVRA Nonsynonymous SNV F9L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 273710 chr7 23338984 23338984 G A rs760838226 MALSU1 Nonsynonymous SNV G5S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.284 273711 chr6 42946739 42946739 C G PEX6 Synonymous SNV P50P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 273712 chr6 43144384 43144384 C G SRF Nonsynonymous SNV Q177E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.88 273713 chr7 45124861 45124861 G T rs373123243 NACAD Synonymous SNV I306I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.412 273714 chr6 43250847 43250847 G A TTBK1 Nonsynonymous SNV S790N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 273715 chr7 138579245 138579245 G A rs139052197 KIAA1549 Nonsynonymous SNV P1292L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.14 273716 chr7 30066075 30066077 AAA - rs564626031 FKBP14 L17del 0.001 0 0 0 1 0 0 0 0 0 0 0 273717 chr7 139102437 139102437 C T rs768095468 FMC1-LUC7L2, LUC7L2 Synonymous SNV H321H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 273718 chr7 37272770 37272770 G A rs762877369 ELMO1 Nonsynonymous SNV T160M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 273719 chr19 52090349 52090349 C A rs762517010 ZNF175 Nonsynonymous SNV N255K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 273720 chr6 56765267 56765267 G C rs200302847 DST Synonymous SNV V123V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.916 273721 chr7 73085501 73085501 C T rs782323818 VPS37D Nonsynonymous SNV T184I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 273722 chr7 23811780 23811780 T C STK31 Synonymous SNV L593L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.145 273723 chr7 82580416 82580416 G A PCLO Nonsynonymous SNV A3163V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 273724 chr7 27203414 27203414 C T rs148367989 HOXA9 Synonymous SNV K209K 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 10.27 273725 chr7 27213257 27213257 G A rs201128593 HOXA10 Synonymous SNV A223A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.86 273726 chr7 87911988 87911988 G A rs370212764 STEAP4 Stop gain R318X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 273727 chr7 31683261 31683261 T - rs573292805 ITPRID1 D759Efs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 273728 chr19 55053809 55053809 G A rs143660730 KIR3DX1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.603 273729 chr6 90575686 90575686 A G rs202224866 CASP8AP2 Nonsynonymous SNV N893D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 273730 chr19 55502017 55502017 C T rs770703521 NLRP2 Synonymous SNV P873P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 273731 chr15 89401869 89401869 C A rs375734624 ACAN Nonsynonymous SNV S2018Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.893 273732 chr7 98574646 98574646 T C TRRAP Nonsynonymous SNV Y2753H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 273733 chr7 99704283 99704283 G A rs574878636 AP4M1 Nonsynonymous SNV M387I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 20.4 273734 chr7 43906524 43906524 C A MRPS24 Nonsynonymous SNV R93L 0.002 0 0 0 2 0 0 0 0 0 0 0 31 273735 chr8 101540109 101540109 G A rs140674239 ANKRD46 Nonsynonymous SNV S145L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 273736 chr15 90809105 90809105 - GAGGT NGRN Stop gain S55Rfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 273737 chr19 56056243 56056243 G C rs942839786 SBK3 Nonsynonymous SNV R40G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.036 273738 chr7 7572488 7572488 C T rs200110563 COL28A1 Nonsynonymous SNV V7I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.855 273739 chr16 11002910 11002910 G A rs148091568 CIITA Synonymous SNV A310A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.22 273740 chr19 57088461 57088461 C T rs777417801 ZNF470 Nonsynonymous SNV R222C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.027 273741 chr7 51287512 51287512 C T rs79885281 COBL Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.38 273742 chr7 5428945 5428945 C G rs199941680 TNRC18 Synonymous SNV A170A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.536 273743 chr16 19726084 19726084 G A rs202037988 KNOP1 Nonsynonymous SNV R92W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 273744 chr7 64291333 64291333 T G rs4483043 ZNF138 Nonsynonymous SNV F49C 0.003 0 0 0 3 0 0 0 0 0 0 0 4.801 273745 chr16 2024273 2024273 G A rs140832737 TBL3 Nonsynonymous SNV V57M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 273746 chr7 98654859 98654859 T C rs765666452 SMURF1 Synonymous SNV S124S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.386 273747 chr7 64451668 64451668 G A rs200211834 ERV3-1 Synonymous SNV D579D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.933 273748 chr7 64451707 64451707 T C rs116381104 ERV3-1 Synonymous SNV G566G 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.969 273749 chr7 48313901 48313901 T C rs781322186 ABCA13 Synonymous SNV H1546H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 273750 chr8 133673759 133673759 C T LRRC6 Stop gain W42X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 273751 chr8 103663505 103663505 G A KLF10 Nonsynonymous SNV P341L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 273752 chr16 2204916 2204916 G T rs150312875 SNHG19 0 0 0.007 0 0 0 0 2 0 0 0 0 6.142 273753 chr20 1277044 1277044 G A rs758429519 SNPH Nonsynonymous SNV R10Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 273754 chr16 28507210 28507210 C T rs746885439 APOBR Nonsynonymous SNV A283V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.579 273755 chr16 29997065 29997065 G A rs750334817 TAOK2 Synonymous SNV A625A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 273756 chr20 1896048 1896048 G A SIRPA Nonsynonymous SNV S128N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 273757 chr7 120884320 120884320 C T rs769317641 CPED1 Synonymous SNV T746T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.85 273758 chr8 124516983 124516983 C T rs763991242 FBXO32 Nonsynonymous SNV R135H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 273759 chr8 144658262 144658262 G A rs767084295 NAPRT Stop gain R137X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 273760 chr8 144687985 144687985 G - rs775528371 PYCR3 P217Rfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 273761 chr20 3128525 3128525 G C rs753715819 FASTKD5 Nonsynonymous SNV L398V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 273762 chr16 3165329 3165329 G C rs749087621 ZNF205-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.353 273763 chr16 3170145 3170145 A T rs61735886 ZNF205 Nonsynonymous SNV Q495L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 273764 chr7 98547443 98547443 A C TRRAP Nonsynonymous SNV Y1680S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.71 273765 chr7 825268 825268 A C rs768265611 DNAAF5 Nonsynonymous SNV Q849P 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 273766 chr8 133108029 133108029 G T rs201357335 HHLA1 Nonsynonymous SNV S95R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 273767 chr16 339553 339553 G A rs370965851 AXIN1 Synonymous SNV I747I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 273768 chr8 101020752 101020752 C T RGS22 Nonsynonymous SNV G557R 0.002 0 0 0 2 0 0 0 0 0 0 0 32 273769 chr16 3639338 3639338 G A rs776332160 SLX4 Nonsynonymous SNV S1434L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28 273770 chr7 130027795 130027795 G A rs781965999 CPA1 Synonymous SNV K401K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.861 273771 chr19 53518565 53518565 A G rs758218207 ERVV-1 Nonsynonymous SNV I408V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 273772 chr8 10583616 10583616 C T rs180762782 SOX7 Nonsynonymous SNV G267S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 1.406 273773 chr8 10623402 10623402 C G rs373288345 PINX1 Nonsynonymous SNV R140T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.531 273774 chr16 4935995 4935995 A T PPL Synonymous SNV S887S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.05 273775 chr19 8563317 8563317 G A rs767959215 PRAM1 Synonymous SNV L459L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.039 273776 chr8 113317047 113317047 G A CSMD3 Synonymous SNV F2523F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 273777 chr16 53261479 53261479 T C CHD9 Nonsynonymous SNV I711T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 273778 chr8 16885075 16885075 C T MICU3 Nonsynonymous SNV T96I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.815 273779 chr16 58426623 58426623 A G rs193241920 GINS3 Nonsynonymous SNV M40V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.732 273780 chr8 10583373 10583373 C T rs747829460 SOX7 Nonsynonymous SNV A348T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.003 273781 chr16 66971964 66971964 G A rs140461033 CES2 Nonsynonymous SNV R34Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 273782 chr16 68012480 68012480 C T rs150674946 DPEP3 Nonsynonymous SNV R155H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 273783 chr19 56599751 56599751 C T ZNF787 Nonsynonymous SNV A264T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.011 273784 chr20 33588263 33588263 C G rs200207301 MYH7B Nonsynonymous SNV T1692R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 273785 chr20 39831334 39831334 G C ZHX3 Nonsynonymous SNV N741K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 273786 chr8 144399969 144399969 G A rs140346602 TOP1MT Synonymous SNV D320D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.382 273787 chr16 779680 779680 G A HAGHL Synonymous SNV T331T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.713 273788 chr16 81116545 81116545 T C rs754137065 GCSH Nonsynonymous SNV S150G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 273789 chr8 144657815 144657815 G A rs765166125 NAPRT Nonsynonymous SNV P161S 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 273790 chr8 28321280 28321280 C T rs146500582 FBXO16 Nonsynonymous SNV R52H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 273791 chr7 156976654 156976654 C T rs951033281 UBE3C Synonymous SNV S358S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.65 273792 chr7 15725611 15725611 C G rs764582682 MEOX2 Synonymous SNV P139P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 273793 chr8 144997699 144997699 G A rs782011662 PLEC Nonsynonymous SNV A2119V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 9.489 273794 chr8 142367384 142367384 C T GPR20 Nonsynonymous SNV V214M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.69 273795 chr16 85321483 85321483 T C rs2966858 LINC00311 0 0 0.007 0 0 0 0 2 0 0 1 0 2.116 273796 chr8 48648024 48648024 G - rs748514753 SPIDR G661Dfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 273797 chr8 145698693 145698693 C T rs538898394 KIFC2 Nonsynonymous SNV P793S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 273798 chr8 145736071 145736071 G A rs772005078 MFSD3 Synonymous SNV L307L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.301 273799 chr20 49493075 49493075 C T rs139963749 BCAS4 Nonsynonymous SNV T136M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.556 273800 chr16 87795621 87795621 T C rs768306571 KLHDC4 Nonsynonymous SNV H42R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 273801 chr19 746511 746511 G A rs765617736 PALM Synonymous SNV P243P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 273802 chr16 88958334 88958334 C T rs140495720 CBFA2T3 Nonsynonymous SNV A137T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 273803 chr16 89245927 89245927 - C rs773859940 CDH15 Frameshift insertion I52Dfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 273804 chr17 10404047 10404047 C T rs764602423 MYH1 Nonsynonymous SNV R1254H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 273805 chr19 1469359 1469359 C T APC2 Nonsynonymous SNV A2019V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.88 273806 chr20 21686458 21686458 C G PAX1 Synonymous SNV R36R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.69 273807 chr8 99028796 99028796 C T rs199532725 MATN2 Synonymous SNV H493H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.599 273808 chr19 2425394 2425394 T G rs754651582 TMPRSS9 Nonsynonymous SNV L974R 0 0 0 1 0 0 0.003 0 0 0 0 0 29 273809 chr19 2769050 2769050 C T rs372280064 SGTA Nonsynonymous SNV R6H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 273810 chr19 3612139 3612139 C T rs376455756 CACTIN Nonsynonymous SNV D687N 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 273811 chr19 3823258 3823258 C T rs764851611 ZFR2 Nonsynonymous SNV E453K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 273812 chr21 33371295 33371295 T C rs56240027 HUNK Nonsynonymous SNV M648T 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 273813 chr17 20108072 20108072 A T rs374184724 SPECC1 Nonsynonymous SNV Q156L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 273814 chr9 113141680 113141680 A G SVEP1 Nonsynonymous SNV L3452P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 273815 chr7 55273011 55273011 A C rs369498625 EGFR Nonsynonymous SNV N845H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 273816 chr17 21319341 21319341 C G KCNJ12, KCNJ18 Synonymous SNV R229R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.6 273817 chr21 40190420 40190420 A G rs778912960 ETS2 Nonsynonymous SNV M221V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 273818 chr19 5696280 5696280 C T rs147307965 LONP1 Nonsynonymous SNV V430M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 273819 chr7 6684139 6684139 C T rs928607406 ZNF316 Synonymous SNV I207I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.65 273820 chr21 43325864 43325864 G A rs143536998 C2CD2 Synonymous SNV P312P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.268 273821 chr9 113563105 113563105 G A rs764486887 MUSK Nonsynonymous SNV R396Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 273822 chr19 7685310 7685310 G A rs117645581 XAB2 Nonsynonymous SNV T706M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 273823 chr20 51870054 51870054 A C TSHZ2 Nonsynonymous SNV E16D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 273824 chr21 43808526 43808526 T C rs61731564 TMPRSS3 Synonymous SNV Q17Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 2.611 273825 chr21 45076604 45076605 TT - HSF2BP K17Rfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 273826 chr21 45716325 45716325 C T rs746873146 AIRE Synonymous SNV S521S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.69 273827 chr9 125796875 125796875 C T rs768723729 GPR21 Synonymous SNV S10S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.306 273828 chr21 45773689 45773689 A G rs771305939 TRPM2 Nonsynonymous SNV S36G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 273829 chr7 90585032 90585032 G A rs765001934 CDK14 Nonsynonymous SNV V154I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.8 273830 chr7 92244589 92244589 T C rs55860121 CDK6 Synonymous SNV T282T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.504 273831 chr8 59409220 59409220 C A rs528732489 CYP7A1 Nonsynonymous SNV W284L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 273832 chr9 130523902 130523902 G A rs539496048 SH2D3C Synonymous SNV S24S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.761 273833 chr17 37922190 37922190 G A IKZF3 Synonymous SNV F214F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.421 273834 chr7 98591306 98591306 C T rs138716048 TRRAP Synonymous SNV S3288S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.82 273835 chr17 39502759 39502759 C A rs201872869 KRT33A Synonymous SNV R346R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 273836 chr17 39502780 39502780 A G KRT33A Synonymous SNV Y339Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.593 273837 chr19 9077044 9077044 C G rs752487092 MUC16 Nonsynonymous SNV D3468H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.478 273838 chr22 21380181 21380181 C A rs113447136 P2RX6 Nonsynonymous SNV P171Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.2 273839 chr8 11703193 11703193 C T CTSB Stop gain W176X 0 0 0 1 0 0 0.003 0 0 0 0 0 44 273840 chr9 121976277 121976277 G A rs557929677 BRINP1 Nonsynonymous SNV T281M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 273841 chr17 42428954 42428954 G A rs63750541 GRN Nonsynonymous SNV A324T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.18 273842 chr9 139110556 139110556 G A rs61744120 QSOX2 Nonsynonymous SNV T352M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25 273843 chr9 125616490 125616490 C A rs975491704 RC3H2 Nonsynonymous SNV D929Y 0.001 0 0 0 1 0 0 0 0 0 0 0 30 273844 chr9 135983432 135983432 A G RALGDS Synonymous SNV P325P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.627 273845 chr8 135545112 135545112 G C rs370573269 ZFAT Nonsynonymous SNV T965S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.646 273846 chr9 139637278 139637278 C T rs373886246 LCN10 Synonymous SNV E26E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.269 273847 chr9 130162258 130162262 GTCGG - rs767168637 SLC2A8 V4Hfs*72 0.001 0 0 0 1 0 0 0 0 0 0 0 273848 chr9 130476383 130476383 G A rs117880987 PTRH1 Nonsynonymous SNV P214L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 273849 chr8 143922607 143922607 G A rs142334468 GML Synonymous SNV P49P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.769 273850 chr9 131418981 131418981 G A WDR34 Nonsynonymous SNV P9S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.836 273851 chr8 144550691 144550691 G A rs747533343 ZC3H3 Synonymous SNV L656L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.21 273852 chr22 38315044 38315044 G C MICALL1 Nonsynonymous SNV G143A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 273853 chr17 56271146 56271146 C G EPX Nonsynonymous SNV R140G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.996 273854 chr19 16606864 16606864 T A CALR3 Nonsynonymous SNV E26V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 273855 chr22 40257887 40257887 T C rs140041075 ENTHD1 Nonsynonymous SNV K159E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.66 273856 chr19 17397461 17397464 GTGT - ANKLE1 L591Vfs*17 0 0 0 1 0 0 0.003 0 0 0 0 0 273857 chr9 22447214 22447214 G T DMRTA1 Synonymous SNV P50P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 273858 chr9 22451546 22451546 A C DMRTA1 Nonsynonymous SNV N384T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.938 273859 chr22 41631300 41631300 G A rs868148829 CHADL Nonsynonymous SNV P704L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 273860 chr22 41907933 41907933 C T rs58996446 ACO2 Synonymous SNV G162G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.51 273861 chr22 42033657 42033657 A G XRCC6 Nonsynonymous SNV D162G 0 0.003 0 0 0 1 0 0 0 0 0 0 32 273862 chr22 42089712 42089712 C T C22orf46 0 0.003 0 0 0 1 0 0 0 0 0 0 3.015 273863 chr22 42221714 42221714 A G rs61109016 CCDC134 Nonsynonymous SNV T80A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 273864 chr9 27949218 27949218 G A rs150860330 LINGO2 Synonymous SNV I484I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 273865 chr17 6373665 6373665 G A rs139119218 PITPNM3 Nonsynonymous SNV T527M 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 32 273866 chr9 18950837 18950837 G A rs201872237 SAXO1 Nonsynonymous SNV S46F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.17 273867 chr9 130219595 130219595 G A LRSAM1 Nonsynonymous SNV V59M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 273868 chr22 44319854 44319854 C - rs765529904 PNPLA3 H22Tfs*8 0.001 0.003 0 0 1 1 0 0 0 0 0 0 273869 chr9 137772768 137772768 G A rs141131781 FCN2 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 273870 chr8 15095127 15095127 G A rs369851920 SGCZ Synonymous SNV D2D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.941 273871 chr17 67023473 67023473 G C ABCA9 Nonsynonymous SNV Q637E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 273872 chr22 45281321 45281321 C T PHF21B Synonymous SNV L400L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.89 273873 chr19 19765958 19765958 C A ATP13A1 Nonsynonymous SNV S542I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 273874 chr8 1900947 1900947 C T ARHGEF10 Synonymous SNV L1120L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.34 273875 chr19 22270798 22270798 T C ZNF257 Synonymous SNV A6A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.02 273876 chr19 22270799 22270799 G A rs570207024 ZNF257 Nonsynonymous SNV E7K 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 2.71 273877 chr19 22270807 22270807 T C ZNF257 Synonymous SNV L9L 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.006 273878 chr19 23938283 23938283 T A rs202142525 ZNF681 Nonsynonymous SNV Q25L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 273879 chr9 35906445 35906445 G A rs139586696 HRCT1 Nonsynonymous SNV R54H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 273880 chr9 6814659 6814659 G A rs750594288 KDM4C Nonsynonymous SNV E117K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 273881 chrX 19024132 19024132 G A rs186603149 ADGRG2 Synonymous SNV F571F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.24 273882 chrX 19390781 19390781 C T rs140332145 MAP3K15 Nonsynonymous SNV C1033Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.56 273883 chr9 90501485 90501485 G A rs140485781 SPATA31E1 Nonsynonymous SNV G695R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.616 273884 chr19 36036660 36036660 G C rs200901862 TMEM147 Nonsynonymous SNV G7R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.8 273885 chr17 74003778 74003778 G T rs760413260 EVPL Nonsynonymous SNV D1858E 0 0 0.007 0 0 0 0 2 0 0 0 0 11.62 273886 chr19 36168894 36168894 A G rs139622862 UPK1A Nonsynonymous SNV I250M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.025 273887 chr9 139563052 139563052 G A rs143961691 EGFL7 Nonsynonymous SNV E42K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 273888 chr9 79933486 79933486 G T rs141528779 VPS13A Synonymous SNV L1725L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.786 273889 chr17 76267449 76267449 G A rs780988390 LINC01993 0 0 0.003 0 0 0 0 1 0 0 0 0 1.467 273890 chr19 37440461 37440461 G A ZNF568 Nonsynonymous SNV V72M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.99 273891 chrX 117629993 117629993 T C DOCK11 Nonsynonymous SNV L20P 0.002 0 0 0 2 0 0 0 1 0 0 0 24.4 273892 chr19 37974881 37974881 C T rs760955468 ZNF570 Synonymous SNV N77N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.469 273893 chr9 35710818 35710818 C T rs139083109 TLN1 Synonymous SNV L1393L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.65 273894 chr8 65494299 65494299 G A BHLHE22 Nonsynonymous SNV A318T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 273895 chr19 39215097 39215097 C T rs139162351 ACTN4 Synonymous SNV D634D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 14.39 273896 chrX 71428469 71428469 T C rs551073390 ERCC6L Nonsynonymous SNV I50V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.476 273897 chr9 140173627 140173627 C T rs750687441 TOR4A Synonymous SNV F162F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.286 273898 chr17 78081388 78081388 C T rs745861849 GAA Nonsynonymous SNV A242V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.3 273899 chr9 97063149 97063149 C T rs377137736 ZNF169 Nonsynonymous SNV R246W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 273900 chr8 69552683 69552683 G A rs548341726 C8orf34 Nonsynonymous SNV R350H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 273901 chrX 100749078 100749089 GGCTGGGGCTGG - rs782313474 ARMCX4 A1839_G1842del 0 0.003 0 0 0 1 0 0 0 0 0 0 273902 chrX 153040414 153040414 C T rs367867412 PLXNB3 Synonymous SNV A1337A 0.002 0 0 0 2 0 0 0 1 0 0 0 9.883 273903 chr17 79205931 79205931 G A rs150221822 LOC105371925 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 273904 chr17 79663753 79663753 C T rs371274871 HGS Synonymous SNV P561P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 273905 chrX 21958966 21958966 G A rs753519045 SMS Synonymous SNV T8T 0.002 0 0 0 2 0 0 0 1 0 0 0 15.93 273906 chr17 79966931 79966931 G A rs34085048 ASPSCR1 Nonsynonymous SNV V241M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 273907 chr9 75783961 75783961 G T ANXA1 Nonsynonymous SNV R292L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 273908 chr17 79973184 79973184 C T rs373812733 ASPSCR1 Synonymous SNV G529G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 273909 chr8 95746873 95746873 G A rs376399636 DPY19L4 Nonsynonymous SNV R48H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 273910 chr8 97252066 97252066 A G rs546772736 MTERF3 Synonymous SNV Y359Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.69 273911 chr9 79895083 79895085 AAG - rs745674262 VPS13A K946del 0.001 0 0 0 1 0 0 0 0 0 0 0 273912 chr17 80788546 80788546 G A rs138155684 ZNF750 Synonymous SNV D548D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 273913 chr9 82267693 82267693 C G TLE4 Nonsynonymous SNV D167E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.74 273914 chrX 30577803 30577803 G C rs963341018 CXorf21 Nonsynonymous SNV Q224E 0.002 0 0 0 2 0 0 0 1 0 0 0 24.3 273915 chr17 8296694 8296694 C T rs543633696 RNF222 Nonsynonymous SNV R29Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 273916 chr18 11752904 11752904 C T rs768189751 GNAL Synonymous SNV H66H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.79 273917 chr9 36170614 36170614 C T CCIN Nonsynonymous SNV T372I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 273918 chrX 70330396 70330396 G A IL2RG Nonsynonymous SNV P138S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.007 273919 chrX 101970758 101970758 A G ARMCX5-GPRASP2, GPRASP2 Nonsynonymous SNV N321D 0.003 0 0 0 3 0 0 0 1 0 0 0 0.791 273920 chr18 2913211 2913211 G A rs145383187 EMILIN2 Nonsynonymous SNV E991K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 273921 chr18 2922093 2922093 C T LPIN2 Nonsynonymous SNV R760Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 273922 chrX 36403023 36403023 C A rs782728725 CFAP47 Nonsynonymous SNV P3156T 0.002 0 0 0 2 0 0 0 1 0 0 0 1.362 273923 chrX 38031185 38031185 C T rs777506032 SRPX Nonsynonymous SNV V139I 0.002 0 0 0 2 0 0 0 1 0 0 0 24.7 273924 chr1 989233 989234 TA - rs753401796 AGRN Y1918Cfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 273925 chr1 1229225 1229225 C T rs145341583 ACAP3 Nonsynonymous SNV A780T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 273926 chr9 79320991 79320991 C T rs114221706 PRUNE2 Nonsynonymous SNV A2067T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 7.192 273927 chr18 44118215 44118215 G A rs117297079 LOXHD1 Synonymous SNV C126C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.5 273928 chr1 1896494 1896494 T C rs148199636 CFAP74 Nonsynonymous SNV K470E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 273929 chr1 3527744 3527744 G A MEGF6 Nonsynonymous SNV A30V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 273930 chr9 98683458 98683458 T C rs761403334 ERCC6L2 Nonsynonymous SNV M387T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 273931 chrX 153633206 153633206 G A rs782657741 DNASE1L1 Nonsynonymous SNV R92C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 273932 chr1 8421102 8421113 GGCGAGGGATGC - RERE S267_P270del 0.002 0 0 0 2 0 0 0 0 0 0 0 273933 chrX 105277620 105277620 C T SERPINA7 Synonymous SNV S373S 0.001 0.005 0 0 1 2 0 0 0 1 0 0 11.31 273934 chr18 61621709 61621709 T C HMSD Nonsynonymous SNV V47A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 273935 chrX 22151720 22151720 G A rs77710864 PHEX Synonymous SNV T461T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.431 273936 chrX 38229076 38229076 T C OTC Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.141 273937 chr1 10381913 10381913 A G rs993285684 KIF1B Nonsynonymous SNV K740E 0.002 0 0 0 2 0 0 0 0 0 0 0 28.2 273938 chrX 140993842 140993842 - CTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT MAGEC1 F228_A229insPQSPLQIPVSPSFSSTLLSLFQSFSERTQSTFEGF 0 0.005 0 0 0 2 0 0 0 1 0 0 273939 chr9 131605044 131605044 G A rs374906693 KYAT1 Synonymous SNV V30V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 273940 chr9 132375452 132375452 C A rs779358343 C9orf50 Nonsynonymous SNV K374N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.6 273941 chr9 133589723 133589723 G A ABL1 Nonsynonymous SNV G6E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 273942 chr9 134350620 134350620 C A rs771163960 PRRC2B Nonsynonymous SNV P1035Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.62 273943 chr1 20641049 20641049 C T rs202148589 VWA5B1 Nonsynonymous SNV T176I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 273944 chr19 10791709 10791709 C T rs774242090 ILF3 Synonymous SNV L324L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.035 273945 chr1 20980734 20980734 G A rs138061134 DDOST Nonsynonymous SNV A276V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23 273946 chr19 11727823 11727823 T C rs770976034 ZNF627 Nonsynonymous SNV C59R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 273947 chr9 136199162 136199162 G A rs782566762 SURF6 Nonsynonymous SNV P210L 0 0 0 2 0 0 0.005 0 0 0 0 0 19.83 273948 chr9 136277554 136277554 C - rs997943579 REXO4 E122Rfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 273949 chr1 23519931 23519931 T C rs367991997 HTR1D Nonsynonymous SNV H261R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.153 273950 chr1 23765659 23765659 T C rs199508833 ASAP3 Nonsynonymous SNV S328G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 273951 chr9 136595253 136595253 C T rs35457000 SARDH Synonymous SNV V249V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 15.17 273952 chr9 137967634 137967634 A G rs761079463 OLFM1 Nonsynonymous SNV T28A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.36 273953 chr19 14827011 14827011 G A rs151325132 ZNF333 Nonsynonymous SNV D230N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 273954 chr1 24979467 24979467 G A rs142035407 SRRM1 Synonymous SNV P245P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 273955 chr1 26156288 26156288 A G MTFR1L Nonsynonymous SNV K247R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 273956 chr10 105765430 105765430 G A rs140813954 SLK Nonsynonymous SNV E821K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 273957 chr1 27226889 27226889 C G rs372404785 GPATCH3 Synonymous SNV L15L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 273958 chr9 139701565 139701565 A G CCDC183-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.487 273959 chr1 1372676 1372676 G A VWA1 Nonsynonymous SNV S148N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 273960 chr1 1372678 1372678 G A rs370057906 VWA1 Nonsynonymous SNV D149N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 273961 chr1 32090681 32090681 A G rs201393960 HCRTR1 Nonsynonymous SNV N350S 0 0.005 0 0 0 2 0 0 0 0 0 0 23.9 273962 chr19 17396546 17396546 C T rs148939227 ANKLE1 Synonymous SNV C494C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 273963 chr1 33161345 33161345 T C SYNC Nonsynonymous SNV I118M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 273964 chr1 24669383 24669383 C T rs202191841 GRHL3 Synonymous SNV G383G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 273965 chr9 140772403 140772403 C T rs757235316 CACNA1B Synonymous SNV D6D 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 14.7 273966 chr1 41289902 41289902 G A rs766559631 KCNQ4 Nonsynonymous SNV G422S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 273967 chr19 23543849 23543849 G A ZNF91 Synonymous SNV A612A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.263 273968 chr1 43909344 43909344 C T rs139027171 SZT2 Nonsynonymous SNV P2844L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.13 273969 chr19 24309355 24309355 A G rs757364652 ZNF254 Nonsynonymous SNV K100E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.386 273970 chr1 43805740 43805740 G A rs367877736 MPL Nonsynonymous SNV G266S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.993 273971 chr9 35906593 35906601 CCACCACCC - rs772633159 HRCT1 H105_H107del 0 0 0 1 0 0 0.003 0 0 0 0 0 273972 chr19 33291075 33291075 G A TDRD12 Nonsynonymous SNV M587I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 273973 chr1 47014911 47014911 C T rs767362035 KNCN Synonymous SNV G60G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 273974 chr1 52231643 52231643 C T rs773520638 OSBPL9 Nonsynonymous SNV R132C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 273975 chr19 36431068 36431068 C T rs146057944 LRFN3 Synonymous SNV G247G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 273976 chr9 94800624 94800624 C G rs119482084 SPTLC1 Nonsynonymous SNV G387A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 27 273977 chr1 57258313 57258313 T C rs146849613 FYB2 Nonsynonymous SNV N58S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 273978 chr1 58946725 58946725 G A rs147562724 OMA1 Nonsynonymous SNV T496M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 273979 chr19 375824 375824 G A rs368449708 THEG Synonymous SNV D49D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.413 273980 chr9 98876967 98876967 C T rs757429077 LOC158434 0 0 0 1 0 0 0.003 0 0 0 0 0 0.999 273981 chr1 67560999 67560999 C T rs138996465 C1orf141 Synonymous SNV P174P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 273982 chr1 64095248 64095248 T C rs1126727 PGM1 Synonymous SNV I151I 0 0.003 0.01 0 0 1 0 3 0 0 0 0 Benign/Likely benign 9.478 273983 chr1 64117350 64117350 G A PGM1 Nonsynonymous SNV E449K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.2 273984 chr1 22902833 22902833 C T rs751977374 EPHA8 Nonsynonymous SNV R95W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 273985 chr1 70144097 70144097 G A rs115352313 LRRC7 Synonymous SNV P13P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 273986 chr20 31643322 31643322 C T rs144150108 BPIFB3 Synonymous SNV L31L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.12 273987 chr20 31829276 31829276 G A rs142916338 BPIFA1 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.4 273988 chrX 106796100 106796100 G C FRMPD3 Nonsynonymous SNV G229R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 273989 chr1 78958691 78958691 C T rs796106629 PTGFR Nonsynonymous SNV A88V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 273990 chrX 123019632 123019632 T C rs762676164 XIAP Synonymous SNV S40S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.106 273991 chr1 84670162 84670162 C T rs765806784 PRKACB Stop gain Q262X 0 0.003 0 0 0 1 0 0 0 0 0 0 2.037 273992 chr10 49951476 49951476 G T WDFY4 Nonsynonymous SNV R781L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.42 273993 chr10 49935575 49935575 C A rs1053250602 WDFY4 Nonsynonymous SNV A281D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 273994 chr10 50708599 50708599 C T rs41549213 ERCC6 Nonsynonymous SNV R557H 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 273995 chrX 135431604 135431604 C T rs774475338 ADGRG4 Synonymous SNV H1913H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.741 273996 chr19 42795401 42795401 C T CIC Synonymous SNV Y827Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.774 273997 chr19 42856426 42856426 C T rs754755957 MEGF8 Synonymous SNV G989G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.684 273998 chr19 44248967 44248967 C T rs751294942 SMG9 Nonsynonymous SNV V220I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 273999 chr1 89660988 89660988 C T rs146936970 GBP4 Nonsynonymous SNV V119I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.37 274000 chr1 33625438 33625438 C T rs111872524 TRIM62 Synonymous SNV T83T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 274001 chr1 37948818 37948818 C T ZC3H12A Nonsynonymous SNV T469M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 274002 chr10 70940135 70940135 C A rs34596380 SUPV3L1 Nonsynonymous SNV P30T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 8.179 274003 chrX 30326903 30326903 G A rs779434195 NR0B1 Nonsynonymous SNV T193M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 274004 chr19 45579496 45579496 G A rs149259298 ZNF296 Nonsynonymous SNV P46S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.04 274005 chr19 46206261 46206261 T C rs143525608 QPCTL Nonsynonymous SNV L274S 0 0 0.007 0 0 0 0 2 0 0 0 0 25 274006 chr1 109807832 109807832 C T rs367626671 CELSR2 Nonsynonymous SNV R1876C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 274007 chr20 60897748 60897748 G A rs200103455 LAMA5 Nonsynonymous SNV A2044V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.18 274008 chr20 60910177 60910177 G A rs78320252 LAMA5 Synonymous SNV T794T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.84 274009 chr10 7628027 7628027 C T rs11255206 ITIH5 Synonymous SNV K101K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.29 274010 chr20 60942138 60942138 C T rs890570759 LAMA5 Nonsynonymous SNV G55D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 274011 chr19 48789873 48789873 C T rs139826874 ZNF114 Nonsynonymous SNV P331L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 274012 chr1 46088305 46088305 G A CCDC17 Nonsynonymous SNV R259W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 274013 chr10 81107357 81107357 G C rs763845021 PPIF Nonsynonymous SNV R18P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 274014 chrX 66765170 66765170 - GCA AR Q80_E81insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 274015 chrX 71131114 71131114 G - rs975213127 NHSL2 A60Pfs*34 0 0 0 1 0 0 0.003 0 0 0 0 0 274016 chrX 72433364 72433364 C G rs974469625 NAP1L2 Nonsynonymous SNV G322A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 274017 chr19 49472766 49472766 T A GYS1 Nonsynonymous SNV N601Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.541 274018 chr19 49564903 49564903 C G rs748834740 NTF4 Nonsynonymous SNV V118L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 274019 chr19 50100525 50100525 C T PRR12 Nonsynonymous SNV A978V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 274020 chr5 180053172 180053172 G A rs769539257 FLT4 Synonymous SNV L399L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.22 274021 chr19 51215306 51215306 G A rs771990174 SHANK1 Synonymous SNV H286H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.797 274022 chr10 101667759 101667759 A G DNMBP Synonymous SNV D481D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.557 274023 chr5 2755421 2755421 G A C5orf38 Synonymous SNV A204A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.965 274024 chr1 65139130 65139130 T C rs138579235 CACHD1 Nonsynonymous SNV F608L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 274025 chr1 155020356 155020356 C A DCST1 Nonsynonymous SNV A544D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 274026 chr1 156214957 156214957 G A rs940853831 PAQR6 Nonsynonymous SNV S62L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 274027 chr1 74670881 74670881 A G FPGT Nonsynonymous SNV I397V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 274028 chr1 155895553 155895553 G A KHDC4 Nonsynonymous SNV P255S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 274029 chr10 115987801 115987801 A T rs201463872 TDRD1 Nonsynonymous SNV E1148V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 274030 chr19 54377042 54377042 C G rs750038340 MYADM Nonsynonymous SNV L87V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.236 274031 chr1 156701797 156701797 C G RRNAD1 Nonsynonymous SNV D42E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 274032 chr19 54599150 54599150 G A OSCAR Synonymous SNV V203V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.994 274033 chr19 54823615 54823615 G A rs138945045 LILRA5 Synonymous SNV H38H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.219 274034 chr19 55054831 55054831 C T rs746413482 KIR3DX1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.547 274035 chr1 93736196 93736196 A G rs960713573 CCDC18 Nonsynonymous SNV H1392R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 274036 chr1 159410008 159410008 C T rs375512170 OR10J1 Stop gain Q143X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 274037 chr21 46074392 46074392 C T rs782257584 KRTAP12-4 Nonsynonymous SNV R47Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.057 274038 chr1 159558235 159558235 G A APCS Nonsynonymous SNV G137S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 274039 chr1 159558312 159558312 G A APCS Synonymous SNV K162K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.91 274040 chr1 94667314 94667314 G A rs775392961 ARHGAP29 Nonsynonymous SNV R351W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274041 chr1 160593966 160593966 G A rs200220397 SLAMF1 Nonsynonymous SNV P237L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.006 274042 chr1 161022243 161022243 C G rs369461255 ARHGAP30 Synonymous SNV G132G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.685 274043 chr19 57086047 57086047 G A rs778903680 ZNF470 Synonymous SNV E76E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.102 274044 chr1 170985320 170985320 G A MROH9 Nonsynonymous SNV S584N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.418 274045 chr1 113265701 113265701 T G TAFA3 Nonsynonymous SNV I60S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 274046 chr1 178412181 178412181 G A rs35191496 RASAL2 Synonymous SNV R285R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.856 274047 chr19 59093703 59093718 CCCTACAAGGGGCTGC - CENPBD1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 274048 chr19 620062 620062 G A rs761350559 POLRMT Synonymous SNV L928L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.804 274049 chr19 6427484 6427484 C T rs370967882 SLC25A41 Nonsynonymous SNV R218Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 274050 chr1 179783096 179783096 G T rs374728184 FAM163A Synonymous SNV A92A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.998 274051 chr1 180904960 180904960 C T KIAA1614 Nonsynonymous SNV R639W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 274052 chr1 150921731 150921731 A G rs375520085 SETDB1 Synonymous SNV L467L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.882 274053 chr1 183525366 183525366 - TGAT rs775939432 NCF2 0 0.003 0 0 0 1 0 0 0 0 0 0 274054 chr1 186337028 186337028 T A rs149367812 TPR Nonsynonymous SNV E139D 0 0.003 0 0 0 1 0 0 0 0 0 0 24 274055 chr1 152185607 152185607 C T rs745868532 HRNR Nonsynonymous SNV S2833N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.556 274056 chr1 152324575 152324575 T C rs754188834 FLG2 Nonsynonymous SNV H1896R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 274057 chr1 197298081 197298081 A G rs77713666 CRB1 Synonymous SNV T200T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 274058 chr1 183192274 183192274 A G rs143871142 LAMC2 Synonymous SNV K256K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.19 274059 chr1 156347812 156347812 G A rs371854390 RHBG Nonsynonymous SNV V136M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 274060 chr1 156437952 156437952 G A rs759902968 MEF2D Nonsynonymous SNV R456C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 274061 chr1 203151920 203151920 C T rs200963493 CHI3L1 Nonsynonymous SNV A176T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.6 274062 chr19 9868623 9868623 C T rs190923364 ZNF846 Nonsynonymous SNV R248H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 274063 chr11 14666008 14666008 C T rs375336969 PDE3B Synonymous SNV F129F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 274064 chr6 138195991 138195991 A G rs146534657 TNFAIP3 Nonsynonymous SNV N102S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 26.1 274065 chr10 13340187 13340187 T C PHYH Nonsynonymous SNV Q45R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.365 274066 chr1 109479734 109479734 C T rs755037232 CLCC1 Nonsynonymous SNV A265T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.02 274067 chr1 207195505 207195505 G C rs562853562 C1orf116 Nonsynonymous SNV T289R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 274068 chr1 109642836 109642836 C T rs369225500 SCARNA2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 274069 chr11 17578714 17578714 G A OTOG Nonsynonymous SNV G249S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 274070 chr1 109810610 109810610 G A rs772380801 CELSR2 Synonymous SNV T2082T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 274071 chr1 110019406 110019406 G T SYPL2 Nonsynonymous SNV R88L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 274072 chr11 18591871 18591871 C T rs201991675 UEVLD Nonsynonymous SNV A61T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 274073 chr1 110765820 110765820 G A rs750720992 KCNC4 Nonsynonymous SNV D305N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 274074 chr10 72360131 72360131 G A rs138588977 PRF1 Synonymous SNV C176C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 8.503 274075 chr1 162381690 162381690 G C rs139368528 SH2D1B Synonymous SNV V39V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.103 274076 chr1 115828961 115828961 G A NGF Synonymous SNV I152I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.591 274077 chr1 171553210 171553210 G A rs150383051 PRRC2C Nonsynonymous SNV G2507S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 274078 chr1 120166238 120166238 G C ZNF697 Nonsynonymous SNV A243G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 274079 chr1 227203793 227203793 T C rs141188296 CDC42BPA Synonymous SNV K1552K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.787 274080 chr1 1247422 1247422 C A rs752124216 INTS11 Synonymous SNV V473V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 274081 chr1 175331823 175331823 G A rs771728764 TNR Nonsynonymous SNV R611C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 274082 chr6 17804730 17804730 G A rs370724684 KIF13A Synonymous SNV L772L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 8.392 274083 chr1 146672993 146672993 C T rs782409876 FMO5 Synonymous SNV T308T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 274084 chr1 147092748 147092748 G A rs202240134 BCL9 Synonymous SNV P929P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.504 274085 chr1 229602499 229602499 G A NUP133 Nonsynonymous SNV S694F 0 0.003 0 0 0 1 0 0 0 0 0 0 33 274086 chr1 151060748 151060748 A G rs148645991 GABPB2 Nonsynonymous SNV N28S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 274087 chrX 9859144 9859144 G A SHROOM2 Nonsynonymous SNV A149T 0 0 0 2 0 0 0.005 0 0 0 0 1 10.89 274088 chr1 231506364 231506364 C G EGLN1 Synonymous SNV L364L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 274089 chr1 184677310 184677310 G A rs748487200 EDEM3 Synonymous SNV L672L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 274090 chr1 152327093 152327093 C A rs755069901 FLG2 Nonsynonymous SNV G1057C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 274091 chr1 152329771 152329771 C T FLG2 Nonsynonymous SNV R164K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 274092 chr1 197071836 197071836 A C rs765139526 ASPM Nonsynonymous SNV V2182G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 274093 chr11 47266888 47266888 C T rs776348174 ACP2 Nonsynonymous SNV V171I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.745 274094 chr1 198721775 198721775 A G rs765815787 PTPRC Nonsynonymous SNV E967G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.89 274095 chr1 244724139 244724139 C T CATSPERE Nonsynonymous SNV P249L 0.001 0 0 0 1 0 0 0 0 0 0 0 29 274096 chr1 236187372 236187372 T C rs138933538 NID1 Nonsynonymous SNV Y709C 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 24.7 274097 chrX 70516510 70516510 A G NONO Nonsynonymous SNV K160R 0 0 0 2 0 0 0.005 0 0 0 0 1 19.59 274098 chr1 244541771 244541771 C T rs41269383 C1orf100 Nonsynonymous SNV P52L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 274099 chrX 84363778 84363778 A C SATL1 Nonsynonymous SNV L66R 0 0 0 2 0 0 0.005 0 0 0 0 1 8.016 274100 chr1 247729238 247729238 G A rs200329506 GCSAML Nonsynonymous SNV E17K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.664 274101 chr1 247887094 247887094 T G OR14A2 Synonymous SNV L84L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.121 274102 chr1 156905779 156905817 GTGGTTTGTACGGTTATGGTCCTGGTGACGCGGCTGCGT - ARHGEF11 D1515_P1522delinsANPLRPHSSFRDWPETGAQGRGDPNTPPCGGGS 0 0 0.003 0 0 0 0 1 0 0 0 0 274103 chr1 1597460 1597460 T C SLC35E2B 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 274104 chr1 15986664 15986664 T A RSC1A1 Nonsynonymous SNV S101T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.195 274105 chrX 135618207 135618207 C T rs376669931 VGLL1 Nonsynonymous SNV R10W 0 0 0 2 0 0 0.005 0 0 0 0 1 14.33 274106 chr1 206649597 206649597 C T rs56358140 IKBKE Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 274107 chr10 71902563 71902563 G A rs544535704 TYSND1 Synonymous SNV C448C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.589 274108 chr1 209605637 209605651 AGCAGCAGCAGCAGC - rs766738965 MIR205HG 0.001 0 0 0 1 0 0 0 0 0 0 0 274109 chr1 209605640 209605651 AGCAGCAGCAGC - MIR205HG 0.001 0 0 0 1 0 0 0 0 0 0 0 274110 chrX 152482657 152482657 T A rs61737512 MAGEA1 Synonymous SNV R118R 0 0 0 2 0 0 0.005 0 0 0 0 1 0.109 274111 chr1 211542933 211542933 A G rs149548418 TRAF5 Nonsynonymous SNV Q310R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.03 274112 chr1 166831553 166831553 T C rs765691758 TADA1 Nonsynonymous SNV M143V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 274113 chr1 215955412 215955412 G A rs202175091 USH2A Nonsynonymous SNV T3571M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 29.7 274114 chr11 1075727 1075727 C T rs373092469 MUC2 Synonymous SNV D51D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.665 274115 chr2 9611524 9611524 G A rs199631426 CPSF3 Nonsynonymous SNV V600I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 274116 chr2 11718522 11718522 C T rs150612503 GREB1 Nonsynonymous SNV T246M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.149 274117 chr2 15747335 15747335 A G rs367564124 DDX1 Nonsynonymous SNV N285S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 274118 chr2 16080795 16080803 CCCCCGCCC - MYCN R31_P33del 0.001 0 0 0 1 0 0 0 0 0 0 0 274119 chr2 20845146 20845146 G A rs149646332 HS1BP3 Nonsynonymous SNV A51V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 274120 chr1 2340085 2340085 G A PEX10 Nonsynonymous SNV R136C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 274121 chr11 113934802 113934802 C T rs149153164 ZBTB16 Synonymous SNV A260A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 12.66 274122 chr1 227081775 227081775 G A rs377494557 PSEN2 Synonymous SNV T380T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.7 274123 chr1 178848056 178848056 T C RALGPS2 Synonymous SNV H255H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.566 274124 chr1 6169943 6169943 A T CHD5 Synonymous SNV A1830A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.551 274125 chr2 18766206 18766206 G A rs61741495 NT5C1B, NT5C1B-RDH14 Synonymous SNV T101T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.62 274126 chr2 27481716 27481716 G A rs567778975 SLC30A3 Nonsynonymous SNV P48L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 274127 chr2 27456947 27456947 T C rs780318858 CAD Synonymous SNV N1094N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.256 274128 chr2 27558852 27558852 T C GTF3C2 Nonsynonymous SNV N467D 0.002 0 0 0 2 0 0 0 0 0 0 0 11 274129 chr2 27592296 27592296 C T rs200290985 EIF2B4 Nonsynonymous SNV A87T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.6 274130 chr1 19180993 19180993 C T rs575948391 TAS1R2 Nonsynonymous SNV G324D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 274131 chr1 1957025 1957025 C T rs149832567 GABRD Synonymous SNV N106N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.72 274132 chr2 31400663 31400663 C T rs909685933 CAPN14 Nonsynonymous SNV G602R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.591 274133 chr1 200959806 200959806 C T rs773935930 KIF21B Synonymous SNV A911A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 274134 chr1 236762847 236762847 C T rs775729831 HEATR1 Nonsynonymous SNV R146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 274135 chr1 237167672 237167672 T C rs546118456 MT1HL1 Star tloss M1V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.7 274136 chr1 202572147 202572147 A G SYT2 Nonsynonymous SNV Y149H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 274137 chr2 47184082 47184082 C T rs201840479 TTC7A Synonymous SNV D151D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.143 274138 chr1 247836210 247836210 G A OR13G1 Nonsynonymous SNV A45V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 274139 chr2 55106685 55106685 C T rs573319889 EML6 Synonymous SNV A782A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 274140 chr1 205897957 205897957 G A rs760498151 SLC26A9 Synonymous SNV R317R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.734 274141 chr2 61408506 61408506 A G rs778167480 AHSA2P 0 0.005 0 0 0 2 0 0 0 0 0 0 14.97 274142 chr1 248685843 248685843 G T OR2G6 Nonsynonymous SNV G299V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 274143 chr2 71740962 71740962 C T rs369719244 DYSF Nonsynonymous SNV R193C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 274144 chr2 3599735 3599735 C T rs757784349 RNASEH1 Nonsynonymous SNV M110I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 274145 chr1 21902347 21902347 C T rs112335417 ALPL Synonymous SNV T296T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.66 274146 chr1 21903947 21903947 G A rs34810399 ALPL Nonsynonymous SNV V384I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.62 274147 chr1 21940550 21940550 G A rs112049462 RAP1GAP Synonymous SNV A172A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 274148 chr2 73496354 73496354 C T rs1005780720 FBXO41 Synonymous SNV P135P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.47 274149 chr1 23208969 23208969 A G rs138869509 EPHB2 Nonsynonymous SNV Y474C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 274150 chr2 75101525 75101525 C G HK2 Nonsynonymous SNV T275S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 274151 chr2 97368800 97368800 C A rs373937760 FER1L5 Nonsynonymous SNV P1828H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.99 274152 chr2 97426827 97426827 T C rs760633483 CNNM4 Nonsynonymous SNV W31R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.722 274153 chr1 27101600 27101600 G A ARID1A Nonsynonymous SNV A1628T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.29 274154 chr2 86265834 86265834 G A rs756071882 POLR1A Synonymous SNV F1341F 0.002 0 0 0 2 0 0 0 0 0 0 0 13.34 274155 chr2 102835510 102835510 T C IL1RL2 Synonymous SNV Y132Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 274156 chr1 228550295 228550295 C T rs756024007 OBSCN Nonsynonymous SNV A6227V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.767 274157 chr2 29416678 29416678 C T rs749418931 ALK Synonymous SNV L357L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.61 274158 chr1 233296041 233296041 G A rs150235720 PCNX2 Nonsynonymous SNV R1169W 0 0 0.003 0 0 0 0 1 0 0 0 0 30 274159 chr1 37337847 37337847 C T rs555053529 GRIK3 Nonsynonymous SNV R225Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 274160 chr2 32463365 32463365 C A rs149451729 NLRC4 Nonsynonymous SNV G121V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 274161 chr1 234564902 234564902 C A rs140244269 TARBP1 Nonsynonymous SNV A1014S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.1 274162 chr2 37426850 37426850 G T CEBPZOS Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 274163 chr11 44940772 44940772 G A rs147332091 TSPAN18 Nonsynonymous SNV R114Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 274164 chr2 44049988 44049988 C T rs143402711 ABCG5 Nonsynonymous SNV V471I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.586 274165 chr1 246755002 246755002 C T rs139247790 CNST Synonymous SNV D46D 0 0 0.01 0 0 0 0 3 0 0 0 0 3.134 274166 chr2 127821186 127821186 G A rs184358580 BIN1 Synonymous SNV I214I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 274167 chr1 247201596 247201597 CA - rs773754989 ZNF670 C107Wfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 274168 chr1 247201604 247201604 C G ZNF670 Nonsynonymous SNV S105T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.427 274169 chr11 47463219 47463219 C A RAPSN Nonsynonymous SNV V286L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 274170 chr2 54864911 54864911 C G SPTBN1 Nonsynonymous SNV L1264V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 274171 chr2 55086759 55086759 - G EML6 Frameshift insertion A584Gfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 274172 chr2 152529171 152529171 C T NEB Synonymous SNV E1337E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.48 274173 chr2 160824100 160824100 G A rs36040063 PLA2R1 Nonsynonymous SNV P952S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.46 274174 chr1 248569714 248569714 G A OR2T1 Nonsynonymous SNV R140K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 274175 chr2 71186202 71186202 C T rs372842500 ATP6V1B1 Nonsynonymous SNV A141V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.4 274176 chr1 249142622 249142622 A G rs528830996 ZNF672 Synonymous SNV A383A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.688 274177 chr2 71780992 71780992 A G DYSF Synonymous SNV S648S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 274178 chr11 72437868 72437868 C T rs751178070 ARAP1 Synonymous SNV L102L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.784 274179 chr7 150439592 150439592 G A rs150441443 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV R122H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.2 274180 chr2 171055776 171055776 C T rs35391761 MYO3B Nonsynonymous SNV P21S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 274181 chr1 28279731 28279731 A G rs768886509 SMPDL3B Nonsynonymous SNV K127E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 274182 chr2 86276047 86276047 A T POLR1A Nonsynonymous SNV F865Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 274183 chr2 179201088 179201088 A G rs957888567 OSBPL6 Nonsynonymous SNV T219A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.507 274184 chr2 88390542 88390542 C T rs746468835 SMYD1 Synonymous SNV N180N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 274185 chr2 179443561 179443561 C T rs397517674 TTN Synonymous SNV S13667S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.01 274186 chr2 98340750 98340750 G T ZAP70 Nonsynonymous SNV C84F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 274187 chr2 179466171 179466171 T C rs72646823 TTN Nonsynonymous SNV K9453R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.12 274188 chr2 179532168 179532168 C - rs758922909 TTN 0.001 0.003 0 0 1 1 0 0 0 0 0 0 274189 chr2 179549434 179549434 G T TTN Nonsynonymous SNV P9622H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 274190 chr2 170096096 170096096 C T rs765779402 LRP2 Nonsynonymous SNV R1412Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 274191 chr2 179549707 179549707 G A rs72650030 TTN Nonsynonymous SNV A9583V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.2 274192 chr2 179550287 179550287 G C rs72650029 TTN Nonsynonymous SNV L9540V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign/Likely benign 13.2 274193 chr2 179427092 179427092 T C rs778728899 TTN Nonsynonymous SNV I18858V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.927 274194 chr2 179588045 179588045 G A rs761223583 TTN Nonsynonymous SNV A5986V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.33 274195 chr2 179588813 179588813 C T rs72648964 TTN Nonsynonymous SNV G5814D 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 274196 chr2 101869768 101869768 G A rs9973589 CNOT11 Synonymous SNV Q114Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.813 274197 chr2 183129096 183129096 G A rs768731524 PDE1A Synonymous SNV V33V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.16 274198 chr2 110310768 110310768 G C rs374649083 SEPTIN10 Nonsynonymous SNV H163D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 274199 chr1 43119164 43119164 C T rs772140873 CCDC30 Stop gain Q429X 0 0 0.003 0 0 0 0 1 0 0 0 0 3.88 274200 chr2 128466410 128466410 C T rs370287896 WDR33 Nonsynonymous SNV G1208S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 274201 chr2 128848957 128848957 G T rs138106683 UGGT1 Nonsynonymous SNV G9V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 274202 chr1 48459819 48459819 C T TRABD2B Nonsynonymous SNV V185M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 274203 chr2 202014406 202014406 G A CFLAR-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.251 274204 chr2 133403819 133403819 C T rs201249597 LYPD1 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 274205 chr2 203424573 203424573 G A rs766022193 BMPR2 Synonymous SNV R1007R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.685 274206 chr2 203500172 203500172 G A FAM117B Nonsynonymous SNV A88T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 274207 chr2 207174015 207174015 C A ZDBF2 Nonsynonymous SNV A1588D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 274208 chr2 208030257 208030257 C T KLF7 Synonymous SNV E12E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.725 274209 chr1 6188148 6188148 G A rs756778841 CHD5 Synonymous SNV S1287S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 274210 chr1 62189431 62189431 A G rs761801716 TM2D1 Synonymous SNV N64N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.73 274211 chr1 62673135 62673135 G A L1TD1 Nonsynonymous SNV E279K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.108 274212 chr2 152507348 152507348 G A NEB Nonsynonymous SNV R2323W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 274213 chr11 57243996 57243996 C G RTN4RL2 Nonsynonymous SNV P292R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 274214 chr12 122619848 122619848 G A rs554995104 MLXIP Nonsynonymous SNV V604M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 274215 chr1 78204961 78204961 T C rs146829999 USP33 Nonsynonymous SNV N114D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 274216 chr11 59282825 59282825 C T rs776870162 OR4D9 Nonsynonymous SNV A147V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.467 274217 chr2 170066063 170066063 C T rs777517562 LRP2 Synonymous SNV A2123A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 274218 chr2 220349385 220349385 C A rs62191887 SPEG Synonymous SNV V2400V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.29 274219 chr1 85096220 85096220 A G LINC01555 0 0 0.003 0 0 0 0 1 0 0 0 0 1.739 274220 chr1 151505015 151505015 G A rs751861603 CGN Synonymous SNV K903K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 274221 chr2 223168774 223168774 G A rs140626793 CCDC140 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.564 274222 chr1 87716288 87716288 A G rs374883790 LINC02801 Nonsynonymous SNV K43R 0 0 0.007 0 0 0 0 2 0 0 0 0 5.838 274223 chr1 89251853 89251853 C G PKN2 Nonsynonymous SNV S256C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 274224 chr11 60777084 60777084 C T rs759822937 CD6 Synonymous SNV C274C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.25 274225 chr1 89475125 89475125 G C rs188919484 GBP3 Nonsynonymous SNV A338G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 274226 chr1 154965200 154965200 C T rs148439225 FLAD1 Synonymous SNV Y522Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.96 274227 chr2 231406687 231406687 C T SP100 Synonymous SNV T828T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.526 274228 chr1 9322154 9322154 G A H6PD Nonsynonymous SNV R272H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 274229 chr12 133215869 133215869 C T POLE Nonsynonymous SNV M1798I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274230 chr1 94496610 94496610 C T rs62642573 ABCA4 Nonsynonymous SNV E1399K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 23.6 274231 chr12 13716759 13716759 C A rs187979330 GRIN2B Nonsynonymous SNV R1138L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26 274232 chr1 156565516 156565516 G T rs779036962 GPATCH4 Nonsynonymous SNV P206H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 274233 chr12 21007970 21007970 G T SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV L3F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.811 274234 chr12 18641505 18641505 T - rs765216023 PIK3C2G I835Tfs*23 0.002 0 0 0 2 0 0 0 0 0 0 0 274235 chr12 18641507 18641507 A C rs746849167 PIK3C2G Nonsynonymous SNV K836Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.08 274236 chr7 92731722 92731722 T C rs771903224 SAMD9 Nonsynonymous SNV N1230S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.446 274237 chr2 204304621 204304621 A C rs775296117 RAPH1 Nonsynonymous SNV S1098A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 274238 chr2 206480331 206480331 C T rs766956800 PARD3B Nonsynonymous SNV R1069W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 274239 chr2 207652764 207652764 G A rs151258385 FASTKD2 Synonymous SNV P566P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.958 274240 chr2 241075724 241075724 C A rs554336246 COPS9 Nonsynonymous SNV S14I 0.002 0 0 0 2 0 0 0 0 0 0 0 24 274241 chr1 160395047 160395047 G A rs149448007 VANGL2 Nonsynonymous SNV R482H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 274242 chr2 218682636 218682636 G C TNS1 Synonymous SNV S1348S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.155 274243 chr2 218683459 218683459 G A rs201342133 TNS1 Nonsynonymous SNV S1074L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 274244 chr11 66052204 66052204 G A rs769457052 YIF1A Synonymous SNV P210P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.016 274245 chr11 6633007 6633007 A G rs3176311 TAF10 Nonsynonymous SNV I92T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 14.25 274246 chr11 6644305 6644305 G C rs1019084296 DCHS1 Nonsynonymous SNV L2868V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.999 274247 chr20 33437800 33437800 G A GGT7 Nonsynonymous SNV H597Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 274248 chr2 220096995 220096995 A G ANKZF1 Nonsynonymous SNV K92R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 274249 chr2 220115760 220115760 G A TUBA4A Nonsynonymous SNV R206C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 274250 chr3 8787514 8787514 C T rs147250678 CAV3 Synonymous SNV V139V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.74 274251 chr3 9506277 9506277 G A rs200142019 SETD5 Nonsynonymous SNV R882Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 274252 chr11 67808855 67808855 C T rs764330464 TCIRG1 Synonymous SNV D39D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.42 274253 chr20 3672569 3672569 G A rs754759740 SIGLEC1 Synonymous SNV I1437I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.764 274254 chr11 679693 679693 G C DEAF1 Nonsynonymous SNV A285G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 274255 chr12 49919789 49919789 C - SPATS2 Stop gain M465* 0.001 0 0 0 1 0 0 0 0 0 0 0 274256 chr1 173840008 173840008 C T rs141593067 ZBTB37 Synonymous SNV N215N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.827 274257 chr20 39831399 39831399 G A rs745922794 ZHX3 Nonsynonymous SNV R720C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 274258 chr3 13361399 13361399 G A rs372377773 NUP210 Synonymous SNV V1749V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.866 274259 chr3 13377005 13377005 C T rs151178085 NUP210 Synonymous SNV S1264S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.92 274260 chr3 13413494 13413494 C T rs74681769 NUP210 Synonymous SNV P542P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.5 274261 chr3 12977736 12977736 C T rs757948728 IQSEC1 Synonymous SNV A260A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.704 274262 chr3 13677959 13677959 G A rs373459850 FBLN2 Nonsynonymous SNV A1030T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 274263 chr20 43058221 43058221 G A HNF4A Synonymous SNV K447K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.245 274264 chr20 43353606 43353606 C T rs150758194 CCN5 Synonymous SNV L169L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.75 274265 chr20 44469432 44469432 G A rs201803233 SNX21 Nonsynonymous SNV R201H 0 0 0.007 0 0 0 0 2 0 0 0 0 32 274266 chr3 32207305 32207305 G - GPD1L 0.001 0 0 0 1 0 0 0 0 0 0 0 274267 chr20 47782687 47782687 T G rs189127126 STAU1 Nonsynonymous SNV S18R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.5 274268 chr2 232672289 232672289 C T rs769269789 COPS7B Nonsynonymous SNV T261M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 274269 chr3 36876362 36876362 A G rs200562488 TRANK1 Nonsynonymous SNV C1808R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 274270 chr3 38135240 38135240 T A DLEC1 Nonsynonymous SNV L634Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 274271 chr12 54917675 54917675 C T rs139066637 NCKAP1L Synonymous SNV S647S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 274272 chr3 38037294 38037294 C T rs369355921 VILL Stop gain R136X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 274273 chr3 39227283 39227283 G A XIRP1 Synonymous SNV G1218G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.175 274274 chr12 55968482 55968482 G T rs929142241 OR2AP1 Nonsynonymous SNV C95F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 274275 chr3 39184553 39184553 G A rs764432988 CSRNP1 Nonsynonymous SNV P608L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.383 274276 chr11 6566401 6566401 C T rs761094870 DNHD1 Nonsynonymous SNV S1411L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 274277 chr3 40503529 40503529 - CTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 274278 chr12 56118343 56118343 G C rs891950724 BLOC1S1-RDH5 0.001 0 0 0 1 0 0 0 0 0 0 0 8.171 274279 chr11 794492 794492 G A rs535450959 SLC25A22 Synonymous SNV T56T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.96 274280 chr12 56993021 56993021 C G rs1014975877 BAZ2A Nonsynonymous SNV G1765A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 274281 chr12 56993022 56993022 C G rs966039433 BAZ2A Nonsynonymous SNV G1765R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 274282 chr12 57004278 57004278 T C rs759675179 BAZ2A Nonsynonymous SNV K565R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 274283 chr12 57918761 57918761 C T rs142007324 MBD6 Nonsynonymous SNV P81L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 274284 chr11 70279367 70279367 C T rs769724188 CTTN Nonsynonymous SNV P439L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 274285 chr8 1876748 1876748 G A rs778651195 ARHGEF10 Synonymous SNV P913P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.72 274286 chr20 62178483 62178483 G C rs138411221 SRMS Nonsynonymous SNV P112A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 274287 chr11 72945640 72945640 C G rs146599903 P2RY2 Nonsynonymous SNV R146G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 274288 chr3 50334066 50334066 G A rs74426485 NAA80 Nonsynonymous SNV R277C 0.002 0 0 0 2 0 0 0 0 0 0 0 12.07 274289 chr3 50334067 50334067 C A rs201689655 NAA80 Synonymous SNV G276G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.638 274290 chr12 70351718 70351718 C T rs949225292 MYRFL Nonsynonymous SNV T856I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 274291 chr20 62737191 62737191 G A rs141392855 NPBWR2 Nonsynonymous SNV R332W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 274292 chr3 49949430 49949430 C T rs199559150 MON1A Nonsynonymous SNV G145S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 274293 chr3 10183792 10183792 A G VHL Synonymous SNV V87V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.9 274294 chr21 31587865 31587865 T G CLDN8 Nonsynonymous SNV I127L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.95 274295 chr8 27145136 27145136 G A rs148537365 TRIM35 Synonymous SNV G471G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.773 274296 chr21 33975416 33975416 C T rs546808365 CFAP298 Nonsynonymous SNV D241N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 274297 chr3 14939494 14939494 G C rs773592779 FGD5 Synonymous SNV G986G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.923 274298 chr21 34799244 34799244 A C rs121913208 IFNGR2 Nonsynonymous SNV I156L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 2.268 274299 chr8 28340866 28340866 C T rs761794269 FBXO16 Nonsynonymous SNV R33Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.4 274300 chr8 28633318 28633318 C G rs200675183 INTS9 Synonymous SNV L486L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.15 274301 chr3 25761537 25761537 C T rs376913179 NGLY1 Nonsynonymous SNV R568Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.56 274302 chr12 117476973 117476973 A G TESC Nonsynonymous SNV F177L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 274303 chr3 66431967 66431967 C T LRIG1 Synonymous SNV A902A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 274304 chr3 32932565 32932565 C T rs763025137 TRIM71 Synonymous SNV A623A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 274305 chr21 42823103 42823103 G A rs775064642 MX1 Nonsynonymous SNV R481Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 274306 chr11 89891354 89891354 C T rs200163147 NAALAD2 Nonsynonymous SNV P280S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 274307 chr21 43442509 43442509 C T rs201934351 ZNF295-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.991 274308 chr13 101710334 101710334 T A rs775707949 NALCN Synonymous SNV A1631A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.266 274309 chr3 100413808 100413808 C T rs753113675 ADGRG7 Nonsynonymous SNV T491I 0 0.003 0 0 0 1 0 0 0 0 0 0 1.795 274310 chr3 101375028 101375028 T A rs144024292 ZBTB11 Nonsynonymous SNV Q704L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 274311 chr3 108076809 108076809 C T HHLA2 Synonymous SNV F268F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.386 274312 chr12 124856582 124856582 G A rs765331640 NCOR2 Synonymous SNV G913G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 274313 chr13 114321757 114321757 G A rs374698122 GRK1 Nonsynonymous SNV R19Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 274314 chr1 243471328 243471328 C G rs201869920 SDCCAG8 Nonsynonymous SNV L162V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 274315 chr22 17618950 17618950 C A HDHD5 Synonymous SNV V381V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.91 274316 chr3 121168261 121168261 T C rs765046525 POLQ Nonsynonymous SNV I2389V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 274317 chr22 20920954 20920954 G A MED15 Synonymous SNV Q226Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.93 274318 chr3 47288960 47288960 C T rs189088974 KIF9 Nonsynonymous SNV R379H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 274319 chr3 47451477 47451477 G C rs371402807 PTPN23 Nonsynonymous SNV R604T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.069 274320 chr3 47957951 47957951 T G MAP4 Nonsynonymous SNV T456P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 274321 chr3 122437236 122437236 A C rs61732768 PARP14 Nonsynonymous SNV Q1413P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.001 274322 chr22 24226499 24226499 G A rs749996955 SLC2A11 Synonymous SNV T389T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 274323 chr22 25255688 25255688 C T rs116852790 SGSM1 Synonymous SNV D269D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 274324 chr3 50645449 50645449 G A rs139578499 CISH Synonymous SNV T122T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 274325 chr3 51680461 51680461 G A rs79918620 RAD54L2 Nonsynonymous SNV S997N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 274326 chr3 128127054 128127054 C G rs754378931 EEFSEC Nonsynonymous SNV F581L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 274327 chr3 127682084 127682084 C T rs751500751 KBTBD12 Synonymous SNV D515D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 274328 chr3 52391972 52391972 A G DNAH1 Nonsynonymous SNV T1347A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 274329 chr3 52721399 52721399 G A rs527385190 GNL3 Synonymous SNV R70R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 274330 chr3 52724822 52724822 C T rs148418190 SNORD19B 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 274331 chr12 122261192 122261192 G A SETD1B Synonymous SNV T1569T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.34 274332 chr12 122277715 122277715 C G HPD Synonymous SNV L367L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.75 274333 chr3 131208887 131208887 C A rs369657581 MRPL3 Nonsynonymous SNV G169V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 274334 chr3 131188564 131188564 T C MRPL3 Nonsynonymous SNV I264M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.41 274335 chr22 35947740 35947740 C T rs142138208 RASD2 Synonymous SNV T154T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 274336 chr3 58134495 58134495 C T rs146579435 FLNB Nonsynonymous SNV R1979C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274337 chr3 145791085 145791085 T C rs558336915 PLOD2 Nonsynonymous SNV I557V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.373 274338 chr3 63542391 63542391 C T rs371885804 SYNPR Nonsynonymous SNV R108W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274339 chr22 38121555 38121555 G A rs200019928 TRIOBP Nonsynonymous SNV A998T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.597 274340 chr3 139065868 139065868 T C rs150391961 MRPS22 Synonymous SNV T66T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 3.156 274341 chr22 38129388 38129388 G A rs34066624 TRIOBP Nonsynonymous SNV R1344Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 34 274342 chr22 38153699 38153699 G A rs150947392 TRIOBP Nonsynonymous SNV A210T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 5.739 274343 chr3 69050862 69050862 A G rs371892977 EOGT Synonymous SNV F208F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.453 274344 chr22 39135804 39135804 C T rs753766628 SUN2 Nonsynonymous SNV G522S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 274345 chr14 103597398 103597398 C T rs200173638 TNFAIP2 Synonymous SNV R403R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 274346 chr9 127617940 127617941 CT - rs546571014 WDR38 P73Rfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 274347 chr22 45198020 45198020 A G ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV E48G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 274348 chr12 53086339 53086339 - CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGGAGTTTGT KRT77 Stop gain E432_E578delinsQTPPPGSK 0 0 0 1 0 0 0.003 0 0 0 0 0 274349 chr3 183521963 183521963 C T rs371988576 YEATS2 Synonymous SNV I1257I 0.003 0 0 0 4 0 0 0 0 0 0 0 16.35 274350 chr3 179597798 179597798 C T rs773452829 PEX5L Nonsynonymous SNV D83N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 274351 chr12 24985664 24985664 T C rs761278929 BCAT1 Nonsynonymous SNV K285R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 274352 chr2 10059851 10059851 C T rs763297566 TAF1B Synonymous SNV F234F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 274353 chr12 56815182 56815182 G A rs543038534 TIMELESS Nonsynonymous SNV R940W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 274354 chr12 48187292 48187292 G C rs139496736 HDAC7 Nonsynonymous SNV A476G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.063 274355 chr3 194991508 194991508 C A rs749298106 XXYLT1 Nonsynonymous SNV A94S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.571 274356 chr3 196388231 196388231 C A rs1051849887 NRROS Nonsynonymous SNV L573I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 274357 chr14 21526238 21526238 C T rs540758421 RNASE8 Nonsynonymous SNV R63W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.831 274358 chr3 196817884 196817884 A G DLG1 Synonymous SNV F437F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.184 274359 chr2 131487200 131487200 T C rs79432147 GPR148 Nonsynonymous SNV F159S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 274360 chr4 2822423 2822423 G A rs200207198 SH3BP2 Nonsynonymous SNV V27M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.8 274361 chr2 140990756 140990756 T C rs142353749 LRP1B Synonymous SNV X4600X 0 0 0.003 0 0 0 0 1 0 0 0 0 3.536 274362 chr4 2233852 2233852 T C rs2031728 HAUS3 Synonymous SNV Q538Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.085 274363 chr2 86292464 86292464 T C rs201364788 POLR1A Nonsynonymous SNV K664R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.56 274364 chr12 75816731 75816731 G A rs144813686 GLIPR1L2 Nonsynonymous SNV R211Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.257 274365 chr4 4421766 4421766 T G STX18 Nonsynonymous SNV S254R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 274366 chr14 52735213 52735213 G A PTGDR Synonymous SNV A227A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 274367 chr4 6296817 6296817 C T rs140266808 WFS1 Synonymous SNV Y254Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 6.916 274368 chr4 6303281 6303281 C T rs138968466 WFS1 Nonsynonymous SNV R587W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 274369 chr4 6304039 6304039 C G rs893612512 WFS1 Synonymous SNV V839V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.437 274370 chr9 33351568 33351568 A G NFX1 Nonsynonymous SNV N813S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 274371 chr2 99722014 99722014 T C rs375286601 TSGA10 Synonymous SNV R119R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.699 274372 chr9 35044392 35044392 G C C9orf131 Nonsynonymous SNV G554A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.14 274373 chr4 7435196 7435196 C T rs200338688 PSAPL1 Nonsynonymous SNV G471S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.169 274374 chr2 163241287 163241287 C G rs6757850 KCNH7 Nonsynonymous SNV G958A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.049 274375 chr2 165365278 165365278 G C rs138627056 GRB14 Nonsynonymous SNV P214A 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 274376 chr2 167322304 167322304 T C rs773649718 SCN7A Synonymous SNV P286P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.194 274377 chr2 168115368 168115368 A C XIRP2 Nonsynonymous SNV Y549S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 274378 chr3 172224313 172224313 G A rs377414486 TNFSF10 Nonsynonymous SNV A272V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 274379 chr2 170063521 170063521 G A rs776545871 LRP2 Nonsynonymous SNV R2237W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 274380 chr9 4697154 4697154 A T rs765112410 CDC37L1 Synonymous SNV V189V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.112 274381 chr12 96691061 96691061 A G rs755180409 CDK17 Nonsynonymous SNV M287T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 274382 chr4 18023318 18023318 - GCGGCGGCGGCAGCA LCORL A22_Q23insAAAAA 0 0.003 0 0 0 1 0 0 0 0 0 0 274383 chr2 176860337 176860337 A T rs77084246 LNPK Nonsynonymous SNV C57S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.95 274384 chr12 98927397 98927397 C T rs371731646 TMPO Synonymous SNV S454S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.755 274385 chr2 176965011 176965011 G A rs750591839 HOXD12 Nonsynonymous SNV G161D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 274386 chr2 176995236 176995236 G A rs1014839529 HOXD8 Nonsynonymous SNV A48T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 274387 chr2 179479607 179479607 G A rs72677242 TTN Nonsynonymous SNV P7178S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.89 274388 chr2 179600475 179600475 C T rs72648923 TTN Nonsynonymous SNV A3656T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 274389 chr4 41945813 41945813 T C rs116070412 TMEM33 Synonymous SNV Y126Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.894 274390 chr4 41992715 41992715 C T rs147121215 SLC30A9 Nonsynonymous SNV S16F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 274391 chr2 180311453 180311453 T C rs762368580 ZNF385B Nonsynonymous SNV S107G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 274392 chr4 48343826 48343826 C T SLAIN2 Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.69 274393 chr4 47625699 47625699 G A rs756803885 CORIN Nonsynonymous SNV P706L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.1 274394 chr4 47625701 47625701 G T rs781484683 CORIN Synonymous SNV R705R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.13 274395 chr13 114306003 114306003 C T rs749845867 ATP4B Nonsynonymous SNV V199M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 274396 chr4 47939404 47939404 G A rs569092237 CNGA1 Synonymous SNV P438P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.674 274397 chr12 69265699 69265699 T C rs200159655 CPM Nonsynonymous SNV Y99C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 274398 chr4 55569972 55569972 C T rs386833402 KIT Nonsynonymous SNV A280V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.927 274399 chr4 56290759 56290759 T C rs749268935 TMEM165 Synonymous SNV L283L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.407 274400 chr14 91739712 91739712 G A rs370151185 CCDC88C Nonsynonymous SNV P1782S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.83 274401 chr4 68484813 68484813 A G UBA6 Nonsynonymous SNV Y1021H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 274402 chr2 196822053 196822053 G A rs200876490 DNAH7 Nonsynonymous SNV P1004S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 274403 chr2 202466507 202466507 C G rs192777575 C2CD6 Nonsynonymous SNV K157N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.68 274404 chr4 76794405 76794405 G A rs781170131 PPEF2 Stop gain R461X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 274405 chr2 209179091 209179091 C T rs61752185 PIKFYVE Synonymous SNV N590N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.25 274406 chr2 21234915 21234915 A G rs72653083 APOB Synonymous SNV L1609L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.003 274407 chr4 8870068 8870068 C G rs746973290 HMX1 Nonsynonymous SNV S133T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 274408 chr4 10445441 10445441 T C rs145587263 ZNF518B Nonsynonymous SNV N838D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.392 274409 chr2 179500703 179500703 G A TTN Synonymous SNV C4800C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 274410 chr13 67799609 67799609 T A rs189090129 PCDH9 Synonymous SNV S988S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.497 274411 chr2 219849759 219849759 G T FEV Nonsynonymous SNV N13K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 274412 chr2 219849760 219849760 T G FEV Nonsynonymous SNV N13T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 274413 chr2 220366687 220366687 C T rs562659059 GMPPA Synonymous SNV S119S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.85 274414 chr13 99532205 99532205 C G rs549560636 DOCK9 Nonsynonymous SNV D965H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 274415 chr15 25972351 25972351 G C rs766099724 ATP10A Nonsynonymous SNV T268S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 26 274416 chr4 110447383 110447383 T A SEC24B Synonymous SNV G896G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 274417 chr4 40440352 40440352 C G RBM47 Nonsynonymous SNV A187P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 274418 chr4 119979018 119979018 T A SYNPO2 Nonsynonymous SNV S1208T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 274419 chr2 228235679 228235679 T C rs201095743 TM4SF20 Synonymous SNV T67T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 274420 chr4 41634859 41634859 C T rs77334594 LIMCH1 Synonymous SNV G565G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.841 274421 chr4 47945275 47945275 G A rs147591591 CNGA1 Synonymous SNV N193N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.799 274422 chr4 48343991 48343991 C G SLAIN2 Nonsynonymous SNV P79A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 274423 chr4 55133573 55133573 C T rs762106764 PDGFRA Nonsynonymous SNV R293C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 274424 chr2 233899443 233899443 G C rs769168985 NEU2 Nonsynonymous SNV Q273H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 274425 chr4 125592778 125592778 C T rs765453889 ANKRD50 Nonsynonymous SNV A373T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.47 274426 chr14 105642985 105642985 G A NUDT14 Nonsynonymous SNV A105V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 274427 chr14 105847373 105847373 C T rs139419197 PACS2 Nonsynonymous SNV T402M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 274428 chr2 234737388 234737388 G A MROH2A Nonsynonymous SNV R1411H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 274429 chr2 237103559 237103559 G A rs745987684 ASB18 Synonymous SNV L453L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.937 274430 chr1 1387484 1387484 C T rs1045333268 ATAD3C Nonsynonymous SNV T45I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 274431 chr1 1391246 1391246 C A rs757164949 ATAD3C Nonsynonymous SNV H172N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 274432 chr1 1500292 1500292 G A SSU72 Nonsynonymous SNV R29W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 274433 chr4 72634140 72634140 G A rs373386652 GC Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.301 274434 chr4 155489608 155489608 C T rs6054 FGB Nonsynonymous SNV P206L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.2 274435 chr4 74964756 74964756 C A rs201152585 CXCL2 Nonsynonymous SNV A28S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.412 274436 chr2 239049678 239049678 C T rs755446211 KLHL30 Nonsynonymous SNV R95W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 274437 chr4 77317525 77317525 T C rs943243229 CCDC158 Nonsynonymous SNV D62G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 274438 chr13 46801725 46801725 G A rs76914233 LRRC63 Nonsynonymous SNV R55H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 274439 chr13 48611919 48611924 GGAGTC - rs746071566 NUDT15 G17_V18del 0.001 0 0 0 1 0 0 0 0 0 0 0 274440 chr2 242509637 242509637 C T rs140733714 BOK Synonymous SNV L149L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 274441 chr2 242946266 242946266 G A LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 3.301 274442 chr1 9662244 9662244 C T rs918544915 TMEM201 Synonymous SNV S358S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 274443 chr13 76179899 76179899 G A rs776829672 UCHL3 Nonsynonymous SNV R179H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 274444 chr4 183720838 183720838 - GTTTGGGGTCCTCACGGCGGCCCCCGTGGCCCGAAGCTGCTCACTGCCTCTCTGCGGCTGCCCCAGGGTGCACACAGGTTGTCCCCGCCTCATCCTCCTTG TENM3 Frameshift insertion R2479Vfs*51 0 0.003 0 0 0 1 0 0 0 0 0 0 274445 chr2 27459346 27459346 C T rs1009692527 CAD Synonymous SNV S1360S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 274446 chr1 11807499 11807499 G A rs141555536 AGTRAP Nonsynonymous SNV G22D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 274447 chr4 187530382 187530382 G A FAT1 Synonymous SNV P3387P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.486 274448 chr4 185652121 185652121 C A CENPU Nonsynonymous SNV A17S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.302 274449 chr4 100575345 100575345 G A C4orf54 Nonsynonymous SNV S154L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.518 274450 chr1 12004638 12004638 G T rs776315809 PLOD1 Nonsynonymous SNV D46Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.552 274451 chr1 12171999 12171999 A C TNFRSF8 Synonymous SNV R130R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 274452 chr5 1293609 1293609 G A rs186596886 TERT Synonymous SNV F464F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.283 274453 chr14 103059309 103059314 CCGCCT - RCOR1 S31_A32del 0.001 0 0 0 1 0 0 0 0 0 0 0 274454 chr14 103336571 103336571 C T rs758876295 TRAF3 Synonymous SNV G11G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 274455 chr2 3774656 3774656 T A rs934858720 DCDC2C Nonsynonymous SNV S135T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.46 274456 chr14 105169748 105169748 C T rs750610272 INF2 Synonymous SNV P208P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.94 274457 chr1 18149830 18149830 G A rs765307312 ACTL8 Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.7 274458 chr5 11018145 11018145 C T CTNND2 Nonsynonymous SNV A672T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274459 chr14 105685567 105685567 G A rs587647911 BRF1 Synonymous SNV Y222Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.028 274460 chr5 16701072 16701072 C T rs754532622 MYO10 Synonymous SNV S1144S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.152 274461 chr14 105821412 105821412 A G rs782352784 PACS2 Synonymous SNV E107E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.5 274462 chr2 56227891 56227891 C T rs371291090 MIR216B 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 274463 chr14 60591814 60591814 A G PCNX4 Synonymous SNV V741V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.643 274464 chr1 21049333 21049335 GCC - rs550382801 SH2D5 G244del 0.001 0 0 0 1 0 0 0 0 0 0 0 274465 chr14 64494385 64494385 A G rs367788980 SYNE2 Synonymous SNV T2196T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.336 274466 chr5 40981584 40981584 C T rs769499557 C7 Nonsynonymous SNV T814M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 274467 chr1 22204947 22204947 C T rs62642529 HSPG2 Nonsynonymous SNV G867S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.8 274468 chr5 40681675 40681675 T C rs756561073 PTGER4 Nonsynonymous SNV F194L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 274469 chr4 155531327 155531327 A C rs965542797 FGG Nonsynonymous SNV S142A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.369 274470 chr1 23409674 23409674 G A rs137940710 KDM1A Synonymous SNV P798P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.06 274471 chr5 43277343 43277343 C T rs56333726 NIM1K Synonymous SNV F159F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.37 274472 chr5 43494637 43494637 C T rs143374727 C5orf34 Nonsynonymous SNV G407S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.062 274473 chr4 165878561 165878561 C T FAM218A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.587 274474 chr1 24123212 24123212 T C rs28940884 GALE Nonsynonymous SNV K257R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign, other 20.6 274475 chr2 84668457 84668457 G A SUCLG1 Stop gain Q149X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 274476 chr5 55398320 55398320 C T rs997825082 ANKRD55 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 274477 chr1 25572993 25572993 C T rs200426170 RSRP1 Stop gain W154X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 274478 chr5 55422821 55422821 C G rs777120326 ANKRD55 Nonsynonymous SNV G242A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 274479 chr5 55422830 55422830 G T rs199752327 ANKRD55 Nonsynonymous SNV A239E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 274480 chr5 64863417 64863417 G T PPWD1 Nonsynonymous SNV M9I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 274481 chr4 184426356 184426356 - GCA rs776572860 ING2 Q8_L9insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 274482 chr2 99651756 99651756 T C TSGA10 Synonymous SNV K408K 0 0 0.007 0 0 0 0 2 0 0 0 0 6.284 274483 chr16 10775971 10775971 C T rs764879505 TEKT5 Nonsynonymous SNV V248M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.701 274484 chr1 28792943 28792943 G A rs753216368 PHACTR4 Nonsynonymous SNV V173I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.93 274485 chr1 29529683 29529683 C T rs149278145 MECR Nonsynonymous SNV A129T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 274486 chr4 187070417 187070417 A T FAM149A Nonsynonymous SNV K219N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 274487 chr5 76012169 76012169 T C F2R Nonsynonymous SNV F13L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.175 274488 chr1 36788023 36788023 C T rs200217271 EVA1B Nonsynonymous SNV R124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 274489 chr3 114014589 114014589 C T rs771774475 TIGIT Nonsynonymous SNV P87S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 274490 chr5 5461933 5461933 G T rs988368397 ICE1 Nonsynonymous SNV R829I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 274491 chr3 118866371 118866371 C T TEX55 Synonymous SNV S445S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.63 274492 chr5 9044592 9044592 A G SEMA5A Nonsynonymous SNV S1000P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 274493 chr16 1894948 1894948 G A rs755310473 MEIOB Synonymous SNV N265N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.232 274494 chr5 94857998 94857998 A G rs754992637 TTC37 Synonymous SNV L591L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 274495 chr1 40882540 40882540 C T rs776995414 SMAP2 Synonymous SNV S282S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 274496 chr5 89802423 89802423 G A rs372880869 POLR3G Nonsynonymous SNV E173K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 274497 chr5 90119297 90119297 G A rs776337063 ADGRV1 Nonsynonymous SNV V5418M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.61 274498 chr1 45251794 45251794 C G rs141277899 BEST4 Synonymous SNV R196R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 274499 chr5 37164385 37164385 G A rs561079089 CPLANE1 Synonymous SNV D2526D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.227 274500 chr5 122110818 122110818 C T rs957416964 SNX2 Nonsynonymous SNV P7L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274501 chr16 27374097 27374097 C T rs368022585 IL4R Nonsynonymous SNV P475L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.558 274502 chr16 27763064 27763064 T A KIAA0556 Nonsynonymous SNV I1124N 0.002 0 0 0 2 0 0 0 0 0 0 0 30 274503 chr1 53555536 53555536 C T rs200606407 SLC1A7 Nonsynonymous SNV V361M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274504 chr14 75376460 75376460 G A rs77674944 RPS6KL1 Synonymous SNV A352A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.479 274505 chr1 54059962 54059962 G C GLIS1 Nonsynonymous SNV A205G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 274506 chr15 41796352 41796352 C A rs148281714 LTK Stop gain E683X 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 35 274507 chr5 128797311 128797311 C T rs746470647 ADAMTS19 Nonsynonymous SNV P203L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.95 274508 chr16 30749533 30749533 C A SRCAP Synonymous SNV T2724T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 274509 chr14 90769420 90769420 T G NRDE2 Nonsynonymous SNV Q352P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 274510 chr16 31424522 31424522 G A rs143512956 ITGAD Nonsynonymous SNV A652T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 274511 chr15 42743449 42743449 G C ZNF106 Nonsynonymous SNV Q318E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.86 274512 chr5 137419870 137419870 T C WNT8A Synonymous SNV T18T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.479 274513 chr3 148859103 148859103 G A HPS3 Synonymous SNV S137S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.496 274514 chr15 43620743 43620745 GAA - rs567418780 LCMT2 L648del 0 0 0 1 0 0 0.003 0 0 0 0 0 274515 chr1 63085630 63085630 T C rs72913293 DOCK7 Nonsynonymous SNV K487R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 274516 chr15 45695113 45695113 C G rs775639888 SPATA5L1 Synonymous SNV A162A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.374 274517 chr3 152058349 152058349 T C rs200228030 TMEM14EP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 274518 chr3 153839803 153839803 G A rs200140877 ARHGEF26 Nonsynonymous SNV D8N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 274519 chr15 100695488 100695488 C T rs564436444 ADAMTS17 Nonsynonymous SNV A407T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 274520 chr16 4644482 4644482 G A rs142136567 C16orf96 Nonsynonymous SNV G1000R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 274521 chr5 79033460 79033460 G T rs191897488 CMYA5 Nonsynonymous SNV A2958S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.6 274522 chr15 51791243 51791243 C T rs146128315 DMXL2 Nonsynonymous SNV R1393Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 274523 chr5 140263141 140263141 G C rs144498761 PCDHA13 Nonsynonymous SNV G430R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.584 274524 chr5 79368151 79368151 C T rs148589675 THBS4 Nonsynonymous SNV R500W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 274525 chr16 50187859 50187861 CAA - rs775364048 TENT4B N114del 0.001 0 0 0 1 0 0 0 0 0 0 0 274526 chr16 50343520 50343520 C T rs763347673 ADCY7 Nonsynonymous SNV A708V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 274527 chr5 150227753 150227753 A G IRGM Nonsynonymous SNV K23R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 274528 chr5 94046628 94046628 A G MCTP1 Nonsynonymous SNV F602L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 274529 chr1 89732194 89732194 T C rs61730934 GBP5 Nonsynonymous SNV I235V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 274530 chr15 65242194 65242194 G T ANKDD1A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 274531 chr5 154275797 154275797 C G GEMIN5 Nonsynonymous SNV G1150A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 274532 chr1 91403406 91403406 A G rs151203549 ZNF644 Synonymous SNV A1108A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.151 274533 chr1 91406590 91406590 G A rs139524523 ZNF644 Synonymous SNV N107N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.444 274534 chr5 149212590 149212590 C T rs144195384 PPARGC1B Synonymous SNV N279N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.949 274535 chr5 149264117 149264117 T C rs149380104 PDE6A Nonsynonymous SNV N651S 0.001 0.008 0 0 1 3 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.93 274536 chr3 184020261 184020261 T C rs116489182 PSMD2 Synonymous SNV L140L 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 1.56 274537 chr5 111540099 111540099 T C rs754775015 EPB41L4A Nonsynonymous SNV N450S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 274538 chr1 92709824 92709824 G C rs61732740 C1orf146 Nonsynonymous SNV E71Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24 274539 chr1 93698141 93698141 T G rs78187035 CCDC18 Synonymous SNV L816L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.78 274540 chr5 112860819 112860819 G A YTHDC2 Synonymous SNV E140E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.345 274541 chr3 186006524 186006524 C T rs751638855 DGKG Synonymous SNV T173T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 274542 chr1 94517242 94517242 G T ABCA4 Nonsynonymous SNV T867N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 274543 chr5 122506503 122506503 C T rs118177028 PRDM6 Synonymous SNV D399D 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.33 274544 chr3 188327174 188327174 C T rs139181279 LPP Nonsynonymous SNV P219S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 274545 chr3 190374273 190374274 AG - IL1RAP E648Vfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 274546 chr3 196730941 196730941 G A rs139824138 MELTF Synonymous SNV N656N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.042 274547 chr16 75146325 75146325 C T rs765216770 LDHD Nonsynonymous SNV V485M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 274548 chr5 137211564 137211564 C T MYOT Stop gain Q135X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 274549 chr15 45444531 45444531 G A rs149942815 DUOX1 Nonsynonymous SNV V1081M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 274550 chr5 139745467 139745467 C T rs201936160 SLC4A9 Nonsynonymous SNV R573W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 274551 chr1 113253638 113253638 C T rs145597332 PPM1J Nonsynonymous SNV G368S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 274552 chr1 116206512 116206512 T C rs34768472 VANGL1 Synonymous SNV C143C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.828 274553 chr5 176813101 176813101 C T rs61753440 SLC34A1 Nonsynonymous SNV P75S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.8 274554 chr15 86266503 86266503 G T rs376932632 AKAP13 Nonsynonymous SNV V854L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.55 274555 chr3 39307516 39307516 G A rs370799413 CX3CR1 Nonsynonymous SNV A162V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.346 274556 chr5 178421531 178421531 G T rs971140136 GRM6 Nonsynonymous SNV P139T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.377 274557 chr5 178505831 178505831 A G rs57271258 ZNF354C Nonsynonymous SNV E133G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.826 274558 chr1 149871654 149871654 T A rs782682331 BOLA1 Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.44 274559 chr3 42568935 42568935 C T rs201579976 VIPR1 Synonymous SNV Y102Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 10.29 274560 chr1 150935095 150935095 A G rs587629539 SETDB1 Nonsynonymous SNV N1064S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 274561 chr1 152081201 152081201 C T rs202222878 TCHH Nonsynonymous SNV E1498K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 274562 chr5 150481022 150481022 C T rs200735957 ANXA6 Nonsynonymous SNV G638D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 274563 chr6 26158736 26158736 G C rs115468860 H2BC5 Synonymous SNV S113S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.59 274564 chr3 136117657 136117657 T C rs140588787 STAG1 Synonymous SNV A737A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.564 274565 chr3 48573781 48573781 G C rs142200739 PFKFB4 Nonsynonymous SNV R250G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 274566 chr16 8904978 8904978 C G rs763944822 PMM2 Synonymous SNV S130S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 274567 chr1 155154509 155154509 C T rs143128193 TRIM46 Synonymous SNV G464G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 274568 chr1 155258052 155258052 G A rs770306788 HCN3 Nonsynonymous SNV R708Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 274569 chr1 155317645 155317645 T C rs768411048 ASH1L Synonymous SNV R2540R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.04 274570 chr3 50154855 50154855 G C rs373341735 SEMA3F-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.75 274571 chr3 51812691 51812691 T C rs60093028 IQCF6 Nonsynonymous SNV Y91C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 274572 chr5 156929854 156929854 C G ADAM19 Nonsynonymous SNV G422A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 274573 chr3 52553329 52553329 A C rs138235745 STAB1 Nonsynonymous SNV E1695A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 274574 chr3 53899247 53899247 C T rs770694682 IL17RB Nonsynonymous SNV A474V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 274575 chr6 26017758 26017758 G T rs147576172 H1-1 Nonsynonymous SNV A68E 0.003 0 0 0 3 0 0 0 0 0 0 0 25.8 274576 chr3 158372362 158372362 T A rs146827771 GFM1 Nonsynonymous SNV L189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 274577 chr1 157069030 157069030 C A ETV3L Stop gain E67X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 274578 chr1 158226775 158226775 G C rs1028337498 CD1A Synonymous SNV V257V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.649 274579 chr6 27218861 27218861 C G rs774722626 PRSS16 Nonsynonymous SNV P211R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 274580 chr3 63898361 63898369 GCAGCAGCA - rs781716445 ATXN7 Q37_Q39del 0 0 0.003 0 0 0 0 1 0 0 0 0 274581 chr5 176069800 176069800 T C EIF4E1B Synonymous SNV V4V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 274582 chr3 7620325 7620325 G A rs138514405 GRM7 Nonsynonymous SNV D578N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 274583 chr15 90167046 90167046 T C rs199627571 TICRR Synonymous SNV L1168L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.227 274584 chr3 9055435 9055435 G A rs145531861 SRGAP3 Synonymous SNV F611F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.02 274585 chr16 2134508 2134508 G T rs45474795 TSC2 Nonsynonymous SNV A1185S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 0.002 274586 chr6 41127543 41127543 G A rs2234255 TREM2 Nonsynonymous SNV H157Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 23.1 274587 chr1 167666641 167666641 C T rs35779782 RCSD1 Synonymous SNV N206N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.889 274588 chr16 11000984 11000984 C G rs748330320 CIITA Synonymous SNV L545L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.043 274589 chr1 167889793 167889793 A G MPC2 Nonsynonymous SNV M76T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 274590 chr1 168066359 168066359 G A rs35898929 GPR161 Synonymous SNV P84P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.036 274591 chr1 169511483 169511483 A C rs140363430 F5 Nonsynonymous SNV L949V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.268 274592 chr1 169512186 169512186 T C rs59779968 F5 Synonymous SNV E714E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 274593 chr1 169581595 169581595 G A rs3917724 SELP Nonsynonymous SNV T274I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.478 274594 chr1 169796197 169796197 T C rs142988055 C1orf112 Nonsynonymous SNV F150S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.1 274595 chr6 5086496 5086496 C T rs767882997 PPP1R3G Synonymous SNV S259S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 274596 chr1 171076888 171076888 G C rs12072582 FMO3 Nonsynonymous SNV D69H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.72 274597 chr16 30537150 30537150 C A rs146820914 ZNF768 Nonsynonymous SNV S104I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 274598 chr1 171251196 171251196 A G rs16864314 FMO1 Nonsynonymous SNV I307V 0.003 0 0.007 1 3 0 0.003 2 0 0 0 0 0.001 274599 chr1 171501979 171501979 A G PRRC2C Synonymous SNV E582E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.441 274600 chr6 52400621 52400621 T C rs751666421 TRAM2 Synonymous SNV L48L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 274601 chr6 7583802 7583802 A G rs149513743 DSP Nonsynonymous SNV K1504E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.6 274602 chr6 46658240 46658240 C G TDRD6 Nonsynonymous SNV T792S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.06 274603 chr6 12161890 12161890 G T rs747814207 HIVEP1 Nonsynonymous SNV D2236Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 274604 chr1 173776652 173776652 T C rs144027979 CENPL Nonsynonymous SNV D58G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 274605 chr6 12162062 12162062 A G rs201674078 HIVEP1 Nonsynonymous SNV D2293G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.725 274606 chr1 174517028 174517028 T C RABGAP1L Synonymous SNV Y551Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.821 274607 chr1 175054578 175054578 G A rs143851746 TNN Synonymous SNV V424V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.1 274608 chr3 197260385 197260385 C T rs60309541 BDH1 Nonsynonymous SNV R44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21 274609 chr3 197427706 197427706 C T rs61746429 RUBCN Nonsynonymous SNV E287K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.53 274610 chr1 175958578 175958578 T C rs111531372 COP1 Synonymous SNV K349K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.313 274611 chr1 176175925 176175925 G A rs201251247 COP1 Nonsynonymous SNV P64S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 274612 chr1 176176064 176176064 C G rs372633957 COP1 Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.039 274613 chr1 176640148 176640148 G A rs535013671 PAPPA2 Synonymous SNV L678L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 274614 chr1 176708868 176708868 C T rs373791481 PAPPA2 Nonsynonymous SNV T1302I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.743 274615 chr17 27998987 27998987 G A rs758137888 SSH2 Nonsynonymous SNV H232Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 274616 chr4 123848876 123848876 G A rs745858366 SPATA5 Nonsynonymous SNV R83Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 28.3 274617 chr1 177199208 177199208 C T rs112761040 BRINP2 Nonsynonymous SNV H66Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 274618 chr6 56373333 56373333 T C DST Synonymous SNV A3788A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.205 274619 chr6 56498966 56498966 A G DST Synonymous SNV N658N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.938 274620 chr6 21594780 21594780 C G rs777317963 SOX4 Synonymous SNV T5T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.234 274621 chr6 73904225 73904225 G A rs188281850 KCNQ5 Synonymous SNV Q519Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.351 274622 chr1 178484998 178484998 A G rs16852957 TEX35 Nonsynonymous SNV E63G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 274623 chr1 178489978 178489978 T C rs3813636 TEX35 Nonsynonymous SNV L179P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 274624 chr6 62604685 62604685 G A rs149633424 KHDRBS2 Nonsynonymous SNV T222I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 274625 chr1 179632503 179632503 T A rs73037621 TDRD5 Synonymous SNV P343P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.385 274626 chr1 179820031 179820031 T C rs115350827 TOR1AIP2 Nonsynonymous SNV S168G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.15 274627 chr1 179820343 179820343 C A rs114937221 TOR1AIP2 Nonsynonymous SNV A64S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 274628 chr4 1729816 1729816 G A rs369649395 TACC3 Synonymous SNV P229P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.17 274629 chr17 33486482 33486482 G A rs151107152 UNC45B Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 274630 chr1 181767565 181767565 G A rs375338599 CACNA1E Synonymous SNV A2117A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.982 274631 chr1 182025767 182025767 G A rs988043616 ZNF648 Nonsynonymous SNV P460L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 274632 chr6 73951256 73951256 G A rs538554497 KHDC1 Nonsynonymous SNV P164L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 274633 chr6 74516717 74516717 G A CD109 Synonymous SNV E960E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.63 274634 chr1 182922226 182922226 G T rs375295609 SHCBP1L Nonsynonymous SNV R15S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.203 274635 chr1 183086474 183086474 G A rs141641746 LAMC1 Synonymous SNV A528A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 274636 chr16 22337380 22337380 G A rs144892562 POLR3E Synonymous SNV P513P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.922 274637 chr16 53532399 53532399 G C AKTIP Nonsynonymous SNV T51S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.26 274638 chr17 35307519 35307519 G A AATF Nonsynonymous SNV A33T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 274639 chr6 28056941 28056941 G A rs769799829 ZNF165 Nonsynonymous SNV S384N 0.001 0 0 0 1 0 0 0 0 0 0 0 21 274640 chr6 80196895 80196895 G A LCA5 Synonymous SNV L640L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.1 274641 chr1 184672123 184672123 A G rs148232633 EDEM3 Synonymous SNV N737N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.193 274642 chr1 184853857 184853857 A G rs112268696 NIBAN1 Nonsynonymous SNV F171L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.75 274643 chr1 185109202 185109202 C T rs79124087 TRMT1L Nonsynonymous SNV D182N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 274644 chr4 154600697 154600697 C - rs540767534 LOC100419170 0 0 0.007 0 0 0 0 2 0 0 0 0 274645 chr1 185892652 185892652 A G rs151284138 HMCN1 Synonymous SNV K384K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.853 274646 chr1 185963991 185963991 G T rs12239296 HMCN1 Nonsynonymous SNV V1184F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.6 274647 chr1 186031730 186031730 C A rs76748242 HMCN1 Nonsynonymous SNV T2504K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.5 274648 chr1 186088412 186088412 G A rs139870667 HMCN1 Nonsynonymous SNV V3980M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.9 274649 chr1 186094807 186094807 G A rs141096306 HMCN1 Nonsynonymous SNV V4191I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.549 274650 chr1 186113408 186113408 G A rs115782304 HMCN1 Synonymous SNV A4676A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.843 274651 chr1 186136031 186136031 T C rs16824983 HMCN1 Synonymous SNV C5177C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.828 274652 chr1 186278240 186278240 A G rs10158395 PRG4 Nonsynonymous SNV N996S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 274653 chr1 186344137 186344137 G A rs75545265 TPR Synonymous SNV V8V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 274654 chr1 186645078 186645078 A G rs5279 PTGS2 Synonymous SNV H403H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.064 274655 chr1 186645669 186645669 A G rs5278 PTGS2 Synonymous SNV D300D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.627 274656 chr16 57416333 57416333 G A rs563993035 CX3CL1 Nonsynonymous SNV A110T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 274657 chr1 192628623 192628623 G C rs16834603 RGS13 Nonsynonymous SNV L150F 0.002 0 0 0 2 0 0 0 0 0 0 0 17.33 274658 chr6 107956181 107956181 G A SOBP Synonymous SNV P711P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.34 274659 chr1 198509731 198509731 C T rs77891982 ATP6V1G3 Nonsynonymous SNV R17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 274660 chr1 200974739 200974739 G A rs146271002 KIF21B Synonymous SNV H177H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.648 274661 chr1 201176590 201176590 G A rs114087989 IGFN1 Nonsynonymous SNV G857R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 274662 chr1 201177608 201177608 A G IGFN1 Nonsynonymous SNV N1196S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 274663 chr6 40999470 40999470 A T UNC5CL Nonsynonymous SNV C357S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.32 274664 chr4 15689494 15689494 C T FAM200B Synonymous SNV G298G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.318 274665 chr6 42073306 42073306 C T rs754761217 C6orf132 Nonsynonymous SNV V782I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 274666 chr1 202934608 202934608 G A rs10920536 CYB5R1 Synonymous SNV H122H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.313 274667 chr1 203192367 203192367 C T rs147465832 CHIT1 Synonymous SNV Q148Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.93 274668 chr1 204103794 204103794 G A rs114520188 ETNK2 Nonsynonymous SNV T348I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.323 274669 chr6 119215601 119215601 T C ASF1A Synonymous SNV N8N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.827 274670 chr4 170398288 170398288 G A rs56346829 NEK1 Synonymous SNV F710F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.258 274671 chr6 43469299 43469299 G A rs140868873 TJAP1 Nonsynonymous SNV R55H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 274672 chr6 43521112 43521112 C G XPO5 Nonsynonymous SNV E524Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 274673 chr1 205041113 205041113 G A rs115143667 CNTN2 Synonymous SNV A861A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.34 274674 chr1 205813330 205813330 C T rs147397862 PM20D1 Nonsynonymous SNV A198T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 274675 chr6 125284295 125284295 C G rs116377893 RNF217 Nonsynonymous SNV S202C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 274676 chr1 207134036 207134036 C T rs3813956 FCAMR Synonymous SNV T395T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.952 274677 chr6 129419387 129419387 C T rs890766655 LAMA2 Nonsynonymous SNV R156C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 274678 chr1 212151701 212151701 C T rs144249214 INTS7 Synonymous SNV P412P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 274679 chr6 135787119 135787119 G C rs560424370 AHI1 Nonsynonymous SNV C194W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 274680 chr17 41926230 41926230 G A CD300LG Synonymous SNV E116E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.423 274681 chr6 151779697 151779697 A G rs140777302 ARMT1 Nonsynonymous SNV I9V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.864 274682 chr4 25020845 25020845 G A rs778734753 LGI2 Synonymous SNV N143N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 274683 chr1 220863914 220863914 A T rs554579162 C1orf115 Nonsynonymous SNV D57V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.465 274684 chr6 149699625 149699625 C T rs914695532 TAB2 Nonsynonymous SNV P192S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.9 274685 chr6 74210320 74210320 C T rs747150526 MTO1 Synonymous SNV P647P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 274686 chr4 39458099 39458099 C G rs377161055 RPL9 Nonsynonymous SNV Q106H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 274687 chr16 85699734 85699734 G A rs146913682 GSE1 Nonsynonymous SNV G867R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 274688 chr6 87968596 87968596 A G rs370856416 ZNF292 Nonsynonymous SNV N1750S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.975 274689 chr6 88853688 88853688 C T rs370487985 CNR1 Nonsynonymous SNV A436T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 274690 chr4 48887504 48887504 G A rs200057664 OCIAD2 Synonymous SNV S92S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.184 274691 chr16 88799701 88799701 G A PIEZO1 Synonymous SNV S883S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.524 274692 chr7 814756 814756 G C rs374069664 DNAAF5 Synonymous SNV S732S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.382 274693 chr1 234458854 234458854 G A rs34618966 SLC35F3 Synonymous SNV E377E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11 274694 chr6 106989468 106989468 G A rs150219842 CRYBG1 Nonsynonymous SNV R1210H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 274695 chr1 234894901 234894901 G C rs114922491 PP2672 0.001 0 0 0 1 0 0 0 0 0 0 0 0.262 274696 chr1 235652558 235652558 G A rs114039725 B3GALNT2 Synonymous SNV F92F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.93 274697 chr16 74708915 74708915 G A rs751486602 MLKL Nonsynonymous SNV R234W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 274698 chr1 236381833 236381833 A G rs11811758 ERO1B Synonymous SNV L463L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.934 274699 chr6 112671024 112671024 T A rs139825172 RFPL4B Stop gain Y38X 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 274700 chr1 241850851 241850851 A G rs74605173 WDR64 Nonsynonymous SNV N310D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.115 274701 chr1 241850877 241850877 G A rs75563780 WDR64 Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.346 274702 chr7 2296618 2296618 A T rs150480674 SNX8 Nonsynonymous SNV F392Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25 274703 chr16 815138 815138 C A MSLN Nonsynonymous SNV A180D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 274704 chr1 241958518 241958518 T C rs79636668 WDR64 Nonsynonymous SNV Y1003H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 274705 chr7 2296622 2296622 A T rs138169290 SNX8 Nonsynonymous SNV Y391N 0.002 0 0 0 2 0 0 0 0 0 0 0 22 274706 chr4 7811466 7811466 G A rs141660816 AFAP1 Nonsynonymous SNV S310L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.76 274707 chr7 13978751 13978751 T C rs368739038 ETV1 Nonsynonymous SNV Y61C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 274708 chr17 16472482 16472482 C A rs751868633 ZNF287 Nonsynonymous SNV A15S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 274709 chr7 6474596 6474596 C G DAGLB Nonsynonymous SNV G159R 0 0.003 0 0 0 1 0 0 0 0 0 0 31 274710 chr1 247902448 247902448 G A rs61731398 OR14K1 Nonsynonymous SNV D178N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 274711 chr7 6502792 6502792 T G rs780050252 KDELR2 Nonsynonymous SNV R122S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 274712 chr1 247902677 247902677 C T rs61731394 OR14K1 Nonsynonymous SNV A254V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 274713 chr17 17250227 17250227 G - NT5M Stop gain W218* 0 0 0 1 0 0 0.003 0 0 0 0 0 274714 chr17 17250228 17250228 G C NT5M Nonsynonymous SNV W218C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 274715 chr6 132874442 132874442 T C rs150101484 TAAR8 Nonsynonymous SNV L204S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.189 274716 chr16 84883096 84883096 G A rs774416911 CRISPLD2 Synonymous SNV S155S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 274717 chr4 126370912 126370912 A G FAT4 Nonsynonymous SNV Q2916R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 274718 chr4 128632210 128632210 T C rs144025772 INTU Nonsynonymous SNV C838R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 274719 chr4 128694556 128694556 C T rs533689186 SLC25A31 Nonsynonymous SNV R259W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 274720 chr7 27239106 27239106 G T rs369862887 HOXA13 Synonymous SNV P197P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.27 274721 chr4 89618870 89618870 A G NAP1L5 Synonymous SNV P12P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.822 274722 chr6 151266616 151266616 G A rs149625114 MTHFD1L Nonsynonymous SNV R522Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 274723 chr5 101631617 101631617 G - rs753117755 SLCO4C1 T117Sfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 274724 chr6 152712543 152712543 C T SYNE1 Nonsynonymous SNV E2632K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 274725 chr17 26519153 26519153 T C rs771072163 NLK Synonymous SNV I481I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.749 274726 chr6 154360426 154360426 A C rs114622967 OPRM1 Nonsynonymous SNV Q44P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 274727 chr2 10927418 10927418 G A rs140988540 PDIA6 Synonymous SNV N382N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 274728 chr6 154428881 154428881 A G rs115854517 OPRM1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.581 274729 chr2 11053353 11053353 C T rs114664009 KCNF1 Synonymous SNV Y267Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.984 274730 chr2 11053536 11053536 C T rs750899294 KCNF1 Synonymous SNV L328L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.801 274731 chr2 11733033 11733033 G A rs374620101 GREB1 Nonsynonymous SNV A493T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 274732 chr17 10415445 10415445 G A rs201741908 MYH1 Synonymous SNV Y404Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.394 274733 chr17 27237310 27237310 G A rs373297386 PHF12 Nonsynonymous SNV R765W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 274734 chr2 15676601 15676601 C G NBAS Nonsynonymous SNV Q196H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 274735 chr17 1198905 1198905 G A TRARG1 Nonsynonymous SNV V170I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 274736 chr6 159687141 159687141 C T rs370002634 FNDC1 Synonymous SNV F1770F 0.003 0 0 0 3 0 0 0 0 0 0 0 15.18 274737 chr5 137275935 137275935 T C rs141284431 FAM13B Synonymous SNV Q881Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.265 274738 chr5 137681253 137681253 C T rs148937448 FAM53C Synonymous SNV D292D 0 0 0.007 0 0 0 0 2 0 0 0 0 7.695 274739 chr5 137802475 137802475 G A rs150291660 EGR1 Nonsynonymous SNV E113K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 274740 chr7 47835721 47835721 G T PKD1L1 Nonsynonymous SNV Q2741K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 274741 chr17 7750177 7750177 - ACCACCACCACC KDM6B P264_L265insPPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 274742 chr7 1024589 1024591 TCT - rs748980730 CYP2W1 F116del 0.001 0 0 0 1 0 0 0 0 0 0 0 274743 chr17 36482480 36482480 T C rs772172723 GPR179 Synonymous SNV L2324L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.953 274744 chr5 140306559 140306559 G T rs145276602 PCDHAC1 Stop gain E28X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 274745 chr7 50135974 50135974 G A rs370846207 SPATA48 Nonsynonymous SNV R98Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 274746 chr2 29135479 29135479 G C rs201593190 WDR43 Nonsynonymous SNV S170T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 274747 chr7 76828515 76828515 T G rs756596183 FGL2 Nonsynonymous SNV Q199P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 274748 chr2 29358508 29358508 G A rs2339421 CLIP4 Synonymous SNV E208E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 274749 chr2 31412209 31412209 G A rs199725219 CAPN14 Nonsynonymous SNV P475S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 274750 chr2 32475063 32475063 A T rs61741169 NLRC4 Nonsynonymous SNV W624R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 274751 chr7 77558639 77558639 C T rs753572758 PHTF2 Nonsynonymous SNV H407Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 274752 chr7 73811461 73811461 G A rs781994822 CLIP2 Synonymous SNV P891P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 274753 chr2 33172688 33172688 - CCG rs538338631 LTBP1 P106_E107insP 0.001 0 0 0 1 0 0 0 0 0 0 0 274754 chr2 33412036 33412036 G A rs118167062 LTBP1 Nonsynonymous SNV V113M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 274755 chr17 38955914 38955914 C T rs200194784 KRT28 Nonsynonymous SNV E78K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 274756 chr2 37265019 37265019 A C rs116763540 HEATR5B Synonymous SNV S1065S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.501 274757 chr7 77325813 77325813 C A RSBN1L Nonsynonymous SNV H9Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.258 274758 chr2 38301968 38301968 G T rs9341247 CYP1B1 Synonymous SNV G188G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.159 274759 chr2 38527447 38527447 T A rs77626845 ATL2 Synonymous SNV G194G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.21 274760 chr17 30771556 30771556 G A rs143871497 PSMD11 Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 274761 chr2 43452543 43452543 G C ZFP36L2 Nonsynonymous SNV L134V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 274762 chr2 43518843 43518843 A G rs17030648 THADA Nonsynonymous SNV C1668R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 274763 chr2 43984305 43984305 T C rs34841349 PLEKHH2 Synonymous SNV H1281H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.608 274764 chr2 44021676 44021676 C T rs34651474 DYNC2LI1 Nonsynonymous SNV T134I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.52 274765 chr2 44071676 44071676 A G rs148370122 ABCG8 Nonsynonymous SNV S32G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.85 274766 chr2 44548568 44548568 T C rs138348037 PREPL Nonsynonymous SNV K642R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 274767 chr2 44550528 44550528 T C rs75128515 PREPL Nonsynonymous SNV N528S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.48 274768 chr5 151784061 151784061 G A NMUR2 Nonsynonymous SNV T205M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 274769 chr2 45829106 45829106 C T rs190074005 SRBD1 Nonsynonymous SNV R66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 274770 chr7 100284334 100284334 - CCT rs749519464 GIGYF1 E210_G211insE 0 0.003 0 0 0 1 0 0 0 0 0 0 274771 chr5 156915297 156915297 G A rs11466804 ADAM19 Synonymous SNV P842P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.437 274772 chr5 161524691 161524691 T C rs767423340 GABRG2 Synonymous SNV R125R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.022 274773 chr2 61412677 61412677 C G rs141666493 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 274774 chr2 64819040 64819040 G A AFTPH Synonymous SNV E866E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.73 274775 chr17 42083925 42083925 A T NAGS Nonsynonymous SNV D315V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 274776 chr17 42334853 42334853 G A rs763079702 SLC4A1 Synonymous SNV L497L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.2 274777 chr7 40134498 40134498 A G rs374341625 CDK13 Synonymous SNV Q1486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.118 274778 chr5 170148843 170148843 G A rs762589612 KCNIP1 Nonsynonymous SNV S97N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 274779 chr17 42476521 42476521 C T rs749705021 GPATCH8 Nonsynonymous SNV R897H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 274780 chr7 44611987 44611987 C T rs149900132 DDX56 Nonsynonymous SNV E202K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 274781 chr5 176915222 176915222 G A rs747682434 PDLIM7 Synonymous SNV H299H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.844 274782 chr2 85012802 85012802 G A rs530785876 DNAH6 Synonymous SNV S3674S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 274783 chr2 88482234 88482234 A G rs73949231 THNSL2 Synonymous SNV Q115Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.461 274784 chr5 180477110 180477110 C T rs145358250 BTNL9 Synonymous SNV L159L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 274785 chr5 180551501 180551501 G A rs767595705 OR2V1 Synonymous SNV A268A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.02 274786 chr17 4841861 4841861 C G rs375769507 SLC25A11 Synonymous SNV V113V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.896 274787 chr7 55211004 55211004 C G EGFR Nonsynonymous SNV Q83E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 274788 chr7 100680434 100680434 G A rs142444596 MUC17 Nonsynonymous SNV G1913S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 274789 chr7 100674898 100674898 C T rs762803281 MUC17 Synonymous SNV T67T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 274790 chr2 98986486 98986486 C G rs374845812 CNGA3 Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.518 274791 chr2 99949661 99949661 C T rs114213285 TXNDC9 Nonsynonymous SNV A5T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.033 274792 chr17 5015307 5015307 A G rs1034652941 LOC101928000 0 0 0 1 0 0 0.003 0 0 0 0 0 7.599 274793 chr2 100623394 100623394 C T rs34235607 AFF3 Synonymous SNV V216V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.03 274794 chr2 101612034 101612034 C T rs80034641 NPAS2 Nonsynonymous SNV P822L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.4 274795 chr7 117251700 117251700 G A rs200321110 CFTR Nonsynonymous SNV G1069R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.91 274796 chr2 108910255 108910255 C T rs17838479 SULT1C2 Synonymous SNV I44I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.29 274797 chr7 127013992 127013992 T G rs557088479 ZNF800 Synonymous SNV A466A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.151 274798 chr7 127224417 127224417 C T rs34887879 GCC1 Nonsynonymous SNV A274T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 274799 chr7 127224976 127224976 G C rs2285348 GCC1 Nonsynonymous SNV C87W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 274800 chr7 127235935 127235935 C T rs115869480 FSCN3 Nonsynonymous SNV T240M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 274801 chr2 110350622 110350625 ACTC - rs751910491 SEPTIN10 0.001 0 0 0 1 0 0 0 0 0 0 0 274802 chr5 54424440 54424440 T G rs1049473887 CDC20B Nonsynonymous SNV N235H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 274803 chr17 60754659 60754659 G T MRC2 Nonsynonymous SNV A622S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 274804 chr7 92078124 92078124 C T rs374329900 GATAD1 Nonsynonymous SNV A103V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 274805 chr7 130365812 130365812 A C rs139224962 TSGA13 Nonsynonymous SNV L49R 0.003 0 0 0 3 0 0 0 0 0 0 0 13.99 274806 chr17 61607595 61607595 C T KCNH6 Stop gain Q151X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 274807 chr17 61898444 61898444 G A rs138518008 FTSJ3 Nonsynonymous SNV R640C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.32 274808 chr17 5009788 5009788 A G rs141035572 ZNF232 Synonymous SNV D213D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.723 274809 chr2 125204484 125204484 C T rs776009379 CNTNAP5 Synonymous SNV G296G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 274810 chr2 128394149 128394149 C T rs1035310604 MYO7B Synonymous SNV V2025V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 274811 chr2 128757658 128757658 G C rs2276681 SAP130 Synonymous SNV T386T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.873 274812 chr17 6690149 6690149 G A FBXO39 Synonymous SNV L358L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.356 274813 chr5 75936831 75936831 G A IQGAP2 Nonsynonymous SNV R616H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 274814 chr2 141356385 141356385 A C LRP1B Nonsynonymous SNV W2337G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 274815 chr2 152484068 152484068 T G NEB Nonsynonymous SNV H3128P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 274816 chr2 158115040 158115040 C T GALNT5 Nonsynonymous SNV T149I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 274817 chr7 149482621 149482621 C T rs573461891 SSPO 0.002 0 0 0 2 0 0 0 0 0 0 0 5.045 274818 chr7 148921056 148921056 C A rs3735312 ZNF282 Synonymous SNV R445R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.05 274819 chr7 149571248 149571248 C T rs368487324 ATP6V0E2 Nonsynonymous SNV P81S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 274820 chr19 12878669 12878669 G A rs199504825 HOOK2 Nonsynonymous SNV R422C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 274821 chr7 150069206 150069206 C T rs199701771 REPIN1 Synonymous SNV Y292Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.221 274822 chr7 150325755 150325755 G A rs753375650 GIMAP6 Synonymous SNV P47P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.741 274823 chr7 150028172 150028172 A C rs754425171 ZBED6CL Nonsynonymous SNV I227L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.841 274824 chr19 14001035 14001035 G C C19orf57 Nonsynonymous SNV L94V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 274825 chr6 10398776 10398776 C A rs2230116 TFAP2A Synonymous SNV T390T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.85 274826 chr7 100552696 100552696 C G MUC3A Nonsynonymous SNV P1093A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.879 274827 chr6 107011702 107011702 C T rs763018458 CRYBG1 Synonymous SNV L1660L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.93 274828 chr2 170428176 170428176 A G rs113689973 FASTKD1 Nonsynonymous SNV Y122H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.039 274829 chr7 155251678 155251678 C G rs765844388 EN2 Synonymous SNV A202A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 274830 chr6 109766731 109766731 G A rs771733625 MICAL1 Nonsynonymous SNV A806V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 274831 chr2 171627290 171627290 C - ERICH2 R34Gfs*116 0.001 0 0 0 1 0 0 0 0 0 0 0 274832 chr6 110300650 110300650 G T GPR6 Nonsynonymous SNV G112V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 274833 chr6 110422931 110422931 G A rs142151316 WASF1 Nonsynonymous SNV T461I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 274834 chr5 141362983 141362983 G A RNF14 Nonsynonymous SNV D242N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 274835 chr6 110763478 110763478 T C SLC22A16 Synonymous SNV G384G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.367 274836 chr7 158531807 158531807 G A rs35964789 ESYT2 Nonsynonymous SNV T704M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 274837 chr7 104752839 104752847 CCTCCACCT - rs780440926 KMT2E P1550_P1552del 0.001 0 0 0 1 0 0 0 0 0 0 0 274838 chr2 175301041 175301041 C T GPR155 Nonsynonymous SNV G778R 0.001 0 0 0 1 0 0 0 0 0 0 0 35 274839 chr6 112389434 112389434 A - rs781790231 CCN6 K226Nfs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 274840 chr2 179440027 179440027 G A rs72646891 TTN Nonsynonymous SNV A14546V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 274841 chr2 179446303 179446303 C T rs200971254 TTN Nonsynonymous SNV R13166H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 274842 chr2 179455314 179455314 G T rs201167216 TTN Nonsynonymous SNV L11315M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.65 274843 chr2 179463374 179463374 A G rs372019333 TTN Synonymous SNV P9925P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.399 274844 chr2 179528807 179528807 T A rs73973133 TTN Nonsynonymous SNV E12100V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 7.521 274845 chr8 2056585 2056585 C T rs201936648 MYOM2 Nonsynonymous SNV R1003C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 274846 chr7 122763189 122763189 A G rs201230273 SLC13A1 Synonymous SNV D447D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.084 274847 chr2 179720230 179720230 G A rs774410520 CCDC141 Synonymous SNV T968T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.063 274848 chr8 6566297 6566297 G T AGPAT5 Synonymous SNV R36R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 274849 chr8 6668821 6668821 A C XKR5 Synonymous SNV T653T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.851 274850 chr17 76499039 76499039 C T rs200535968 DNAH17 Nonsynonymous SNV E1671K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.5 274851 chr6 12164052 12164052 T C rs574006652 HIVEP1 Synonymous SNV N2505N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.046 274852 chr17 76540062 76540062 C T rs148636690 DNAH17 Synonymous SNV P803P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 16.81 274853 chr19 1753862 1753862 C A rs995479093 ONECUT3 Synonymous SNV G67G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 274854 chr17 7667531 7667531 C A DNAH2 Synonymous SNV I1092I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.84 274855 chr17 7752503 7752503 C T rs368702716 KDM6B Nonsynonymous SNV A966V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 274856 chr17 78022402 78022402 G A rs201815496 CCDC40 Nonsynonymous SNV D233N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.244 274857 chr6 134303785 134303785 C A rs41286222 TBPL1 Nonsynonymous SNV T72K 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 21.4 274858 chr2 190531879 190531879 C T rs377588878 ASNSD1 Nonsynonymous SNV R341C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 274859 chr6 138619852 138619852 A G rs777487133 ARFGEF3 Nonsynonymous SNV N1253S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 274860 chr2 192711262 192711262 C G rs35012125 CAVIN2 Nonsynonymous SNV E130D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.91 274861 chr2 193044369 193044369 A C rs57592265 TMEFF2 Nonsynonymous SNV L155W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.555 274862 chr7 138732583 138732583 T G rs774951736 ZC3HAV1 Nonsynonymous SNV K944N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 274863 chr8 20035990 20035990 A G rs61731076 SLC18A1 Nonsynonymous SNV I168T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 274864 chr8 20054931 20054931 C T rs368067224 ATP6V1B2 Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 274865 chr5 156898783 156898783 G T rs540992129 NIPAL4 Nonsynonymous SNV V225F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.5 274866 chr8 20054995 20054995 G A rs369036213 ATP6V1B2 Synonymous SNV V26V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.414 274867 chr17 79225304 79225304 C T rs754810225 SLC38A10 Nonsynonymous SNV S685N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 274868 chr7 141705413 141705413 T C rs201144916 MGAM Nonsynonymous SNV I28T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.42 274869 chr2 204039892 204039892 A G rs745705967 NBEAL1 Nonsynonymous SNV M2087V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.308 274870 chr17 80194618 80194618 T C rs532979333 SLC16A3 Synonymous SNV S79S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 274871 chr17 80195289 80195289 C T rs763987802 SLC16A3 Nonsynonymous SNV R215W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 274872 chr6 153332860 153332860 C G rs140067731 RGS17 Nonsynonymous SNV R161T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 274873 chr6 158483108 158483108 G C rs768761112 SYNJ2 Nonsynonymous SNV E110Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 274874 chr6 158923478 158923478 C T rs374416132 TULP4 Nonsynonymous SNV T928M 0.003 0 0.003 0 4 0 0 1 0 0 0 0 28.6 274875 chr17 8167886 8167886 C G rs369217509 PFAS Synonymous SNV P672P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.39 274876 chr8 29990050 29990050 C A rs766256069 MBOAT4 Nonsynonymous SNV E239D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 274877 chr8 27097586 27097586 T C STMN4 Nonsynonymous SNV I129V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 274878 chr7 150655174 150655174 G A rs199472882 KCNH2 Nonsynonymous SNV P297S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.81 274879 chr5 179228694 179228694 T C rs140808334 MGAT4B Nonsynonymous SNV E110G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 274880 chr5 179321458 179321458 C T rs141539662 TBC1D9B Nonsynonymous SNV V169M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 274881 chr2 219544733 219544733 G A rs78424919 STK36 Nonsynonymous SNV G356R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.14 274882 chr8 56698797 56698797 G A TGS1 Nonsynonymous SNV V21I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 274883 chr7 156762331 156762331 C T rs765671566 NOM1 Synonymous SNV N840N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 274884 chr2 220072127 220072127 G T rs79203679 ZFAND2B Nonsynonymous SNV G45V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 274885 chr8 52321610 52321610 G A rs781173900 PXDNL Synonymous SNV P858P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.56 274886 chr2 220342799 220342799 C G rs149716323 SPEG Nonsynonymous SNV R1667G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 33 274887 chr8 75156809 75156809 T A JPH1 Synonymous SNV P620P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.38 274888 chr6 24850174 24850174 G A rs746731460 RIPOR2 Nonsynonymous SNV T297M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 274889 chr6 25081983 25081983 T C rs940198524 CMAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 2.443 274890 chr2 220439826 220439826 G A rs12720061 INHA Nonsynonymous SNV G227R 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.33 274891 chr2 223489486 223489486 A G rs36025173 FARSB Synonymous SNV A303A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.849 274892 chr8 97157231 97157231 C T GDF6 Nonsynonymous SNV E310K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 274893 chr8 97157344 97157344 G A rs561421783 GDF6 Nonsynonymous SNV P272L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.3 274894 chr2 225265907 225265907 C T rs756690006 FAM124B Synonymous SNV P193P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 274895 chr6 2890403 2890403 C T rs376915869 SERPINB9 Synonymous SNV S375S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 274896 chr8 15517124 15517124 G A rs199834913 TUSC3 Nonsynonymous SNV A179T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 274897 chr8 17434813 17434813 G A rs114432448 PDGFRL Nonsynonymous SNV D18N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.944 274898 chr8 17554848 17554848 G T MTUS1 Nonsynonymous SNV H13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 274899 chr8 17794733 17794733 G A rs34804690 PCM1 Nonsynonymous SNV D63N 0.003 0 0 0 3 0 0 0 0 0 0 0 24.4 274900 chr8 17817926 17817926 A G rs35314105 PCM1 Synonymous SNV A765A 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.68 274901 chr8 17822182 17822182 A G rs34935098 PCM1 Synonymous SNV E920E 0.003 0 0 0 3 0 0 0 0 0 0 0 10.17 274902 chr8 17916863 17916863 C A ASAH1 Nonsynonymous SNV R337L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 274903 chr18 28602308 28602308 G T rs147196455 DSC3 Nonsynonymous SNV D312E 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 274904 chr2 233392130 233392130 T C CHRND Nonsynonymous SNV L73P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 274905 chr6 36106711 36106711 C T rs56331651 MAPK13 Synonymous SNV A299A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 274906 chr2 237074827 237074827 C T rs7588069 GBX2 Synonymous SNV L259L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.6 274907 chr2 238280477 238280477 G A rs73998894 COL6A3 Nonsynonymous SNV R788W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.2 274908 chr6 39838157 39838157 G C DAAM2 Synonymous SNV L305L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 274909 chr8 23301432 23301432 C T rs771687000 ENTPD4 Nonsynonymous SNV D200N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 274910 chr6 34214895 34214895 T G SMIM29 Nonsynonymous SNV M57L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 274911 chr2 239162182 239162182 C T rs55704277 PER2 Nonsynonymous SNV A828T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 274912 chr2 240085543 240085543 C T rs141942329 HDAC4 Synonymous SNV R189R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.12 274913 chr8 144463876 144463876 G C rs755478214 RHPN1 Synonymous SNV G541G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.837 274914 chr8 144547917 144547917 G A rs369167305 ZC3H3 Synonymous SNV F759F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 274915 chr8 144623580 144623580 C T rs368173511 ZC3H3 Synonymous SNV K4K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 274916 chr2 241663402 241663402 C T rs370868080 KIF1A Synonymous SNV A1335A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.26 274917 chr8 142228930 142228930 C T rs755250211 SLC45A4 Nonsynonymous SNV G219D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 274918 chr8 143623782 143623782 G A rs764161080 ADGRB1 Nonsynonymous SNV R1396H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 274919 chr18 751739 751739 T G rs117449313 YES1 Nonsynonymous SNV K113Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.1 274920 chr3 9948774 9948774 A G rs7356031 IL17RE Nonsynonymous SNV Y103C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 274921 chr3 9952559 9952559 C A rs115354176 IL17RE Nonsynonymous SNV D155E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 274922 chr8 145164806 145164806 G A rs1011457687 WDR97 Synonymous SNV Q523Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.72 274923 chr3 9959221 9959221 - TCTGGTCTT rs375878052 IL17RC G76_A77insLSG 0.001 0 0 0 1 0 0 0 0 0 0 0 274924 chr8 145168911 145168911 G A rs545467141 WDR97 Nonsynonymous SNV R1147Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.267 274925 chr3 10080987 10080987 A G rs35173688 FANCD2 Nonsynonymous SNV I172M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.317 274926 chr3 10146036 10146036 C T rs10510415 FANCD2OS Synonymous SNV K141K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 274927 chr3 10261445 10261445 C G rs11465910 IRAK2 Nonsynonymous SNV L329V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 274928 chr3 10382339 10382339 C T rs61736452 ATP2B2 Synonymous SNV S944S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.86 274929 chr3 11885549 11885549 T C rs149208464 TAMM41 Nonsynonymous SNV Y91C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 274930 chr3 12848946 12848946 T C rs62637648 CAND2 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 274931 chr3 12851735 12851735 C T rs62637646 CAND2 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 274932 chr3 12856711 12856711 G A rs199547028 CAND2 Nonsynonymous SNV A267T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 274933 chr3 12857920 12857920 A G rs9834623 CAND2 Nonsynonymous SNV M404V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 274934 chr3 12857978 12857978 A T rs200924732 CAND2 Nonsynonymous SNV H423L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 274935 chr3 12858395 12858395 A G rs9838943 CAND2 Nonsynonymous SNV H562R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.145 274936 chr3 12858685 12858685 G A rs149084778 CAND2 Nonsynonymous SNV G659R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 274937 chr8 146108164 146108164 G A rs147300949 ZNF250 Nonsynonymous SNV S119L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 274938 chr3 13612901 13612901 G A rs61753439 FBLN2 Nonsynonymous SNV R349H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.784 274939 chr6 7581727 7581727 G C rs530612211 DSP Synonymous SNV G1768G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.549 274940 chr3 15457058 15457058 G C rs144161131 METTL6 Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.812 274941 chr9 13247682 13247682 G A rs764057757 MPDZ Synonymous SNV F45F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.662 274942 chr19 10077274 10077274 G T COL5A3 Nonsynonymous SNV T1536N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 274943 chr19 12739374 12739374 G A rs765211548 ZNF791 Nonsynonymous SNV R344Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.83 274944 chr9 2830965 2830965 T A rs373954508 PUM3 Nonsynonymous SNV Y225F 0.001 0.005 0 0 1 2 0 0 0 1 0 0 24.7 274945 chr8 110587768 110587768 A C SYBU Synonymous SNV S323S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 274946 chr19 13318259 13318259 G C CACNA1A Synonymous SNV A2463A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.651 274947 chr3 37860417 37860417 C T rs142961075 ITGA9 Synonymous SNV I1015I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 274948 chr9 19346501 19346501 A G rs149094194 DENND4C Nonsynonymous SNV D1196G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 17.5 274949 chr3 38357152 38357152 T C rs189230401 SLC22A14 Synonymous SNV T494T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 274950 chr3 39139910 39139910 C T rs6807342 GORASP1 Synonymous SNV A225A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 274951 chr3 39225816 39225816 C A rs34053674 XIRP1 Nonsynonymous SNV Q390H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 274952 chr19 11408905 11408905 T G rs34162761 TSPAN16 Nonsynonymous SNV Y53D 0.002 0 0 0 2 0 0 0 0 0 0 0 9.323 274953 chr3 39227755 39227755 G A rs35795536 XIRP1 Nonsynonymous SNV A1061V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.6 274954 chr3 39228611 39228611 G A rs9823779 XIRP1 Nonsynonymous SNV R776W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.262 274955 chr9 37521667 37521667 T G FBXO10 Nonsynonymous SNV D700A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 274956 chr9 72131427 72131427 G T rs759665253 APBA1 Synonymous SNV R234R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.466 274957 chr19 13041517 13041517 G A rs201642345 FARSA Nonsynonymous SNV A65V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.92 274958 chr19 17212989 17212989 C T rs117386912 MYO9B Synonymous SNV L154L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 274959 chr3 44683682 44683682 G A rs756810836 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV G141S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 274960 chr3 46400034 46400034 C G rs778974525 CCR2 Nonsynonymous SNV T339R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.031 274961 chr3 47043473 47043473 G A rs779806471 NBEAL2 Nonsynonymous SNV E1582K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.93 274962 chr7 103230168 103230168 C T rs200206522 RELN Synonymous SNV P1340P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 274963 chr9 92003588 92003588 C T rs534671276 SEMA4D Nonsynonymous SNV R357H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.5 274964 chr9 95277059 95277059 C T rs143789386 ECM2 Nonsynonymous SNV R281Q 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 11.66 274965 chr3 48626111 48626111 G A rs752325854 COL7A1 Nonsynonymous SNV R851C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 274966 chr8 145166556 145166556 C T rs140049507 WDR97 Nonsynonymous SNV R837W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 274967 chr8 145537270 145537270 G A rs372062206 HSF1 Nonsynonymous SNV G406S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 274968 chr9 99083614 99083614 C T rs370761962 SLC35D2 Synonymous SNV G220G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 274969 chr9 100425244 100425244 A G NCBP1 Nonsynonymous SNV E201G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 274970 chr3 52021613 52021613 C T rs773211477 ABHD14A-ACY1, ACY1 Synonymous SNV G226G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.34 274971 chr9 100887094 100887094 C A rs760782519 CORO2A Stop gain E514X 0 0.003 0 0 0 1 0 0 0 0 0 0 46 274972 chr19 17081843 17081843 C T rs758811341 CPAMD8 Nonsynonymous SNV E691K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 274973 chr7 127637772 127637772 G A rs142538944 SND1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.81 274974 chr9 2643280 2643280 C T rs772075122 VLDLR Nonsynonymous SNV P149L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 274975 chr9 5745977 5745977 G T RIC1 Nonsynonymous SNV G381V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 274976 chr9 108287347 108287347 A G rs564380888 RALGAPA1P1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.614 274977 chr9 15453199 15453199 A G rs779813812 SNAPC3 Nonsynonymous SNV I300V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.7 274978 chr19 32843842 32843842 C G ZNF507 Nonsynonymous SNV Q36E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 274979 chr6 151670970 151670970 C G rs202128437 AKAP12 Nonsynonymous SNV L377V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.723 274980 chr19 19035478 19035478 G T rs143787772 DDX49 Nonsynonymous SNV R300L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 274981 chr9 115652753 115652753 T A rs139723821 SLC46A2 Nonsynonymous SNV Q70L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 274982 chr9 117166294 117166294 T C WHRN Nonsynonymous SNV D416G 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 274983 chr7 143091311 143091311 A G rs751117100 EPHA1 Synonymous SNV P826P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.461 274984 chr3 100557290 100557290 C T ABI3BP Nonsynonymous SNV R566K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 274985 chr9 117853141 117853141 C T rs141377575 TNC Nonsynonymous SNV V53I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.45 274986 chr7 14758275 14758275 G A DGKB Nonsynonymous SNV R113W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 274987 chr9 36118900 36118900 C T rs142383795 RECK Synonymous SNV A800A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 274988 chr9 123671515 123671515 C T rs61749211 TRAF1 Nonsynonymous SNV R220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 274989 chr19 3006547 3006547 G A rs758160517 TLE2 Synonymous SNV G335G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 274990 chr7 150936506 150936506 G A rs139287814 SMARCD3 Synonymous SNV A458A 0 0 0.007 0 0 0 0 2 0 0 0 0 10.92 274991 chr9 126134572 126134572 G C CRB2 Nonsynonymous SNV Q851H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.65 274992 chr3 119562106 119562106 C T rs72548719 GSK3B Synonymous SNV A397A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.1 274993 chr3 120128482 120128482 T C rs113155123 FSTL1 Nonsynonymous SNV E120G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 274994 chr9 130496709 130496709 C T rs772583632 TOR2A Nonsynonymous SNV G96S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 274995 chr9 131394519 131394519 C T rs1056078052 SPTAN1 Synonymous SNV T2267T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.48 274996 chr3 121208648 121208648 G A rs201749749 POLQ Nonsynonymous SNV R1044C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 274997 chr19 38905752 38905752 C T RASGRP4 Synonymous SNV E225E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.263 274998 chr9 131028291 131028291 T C rs755654044 GOLGA2 Synonymous SNV K191K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 274999 chr9 131152007 131152007 C T rs374697837 URM1 Synonymous SNV G100G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 275000 chr3 121712098 121712098 G A rs34284625 ILDR1 Nonsynonymous SNV H411Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.68 275001 chr3 121712271 121712271 C T rs34883204 ILDR1 Nonsynonymous SNV R353H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.8 275002 chr3 121712358 121712358 A G rs16832645 ILDR1 Nonsynonymous SNV I324T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.335 275003 chr9 131469649 131469649 C T rs749294521 PKN3 Nonsynonymous SNV P267L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 275004 chr9 95277114 95277122 CCTCCTCAC - rs762598771 ECM2 G260_E262del 0.001 0 0 0 1 0 0 0 0 0 0 0 275005 chr7 21698460 21698460 G A rs758984750 DNAH11 Synonymous SNV T1713T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 275006 chr9 132484532 132484532 C T rs544099756 PRRX2 Synonymous SNV P221P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.12 275007 chr9 131702955 131702955 C T rs10988159 PHYHD1 Nonsynonymous SNV R201W 0.002 0 0 0 2 0 0 0 0 0 0 0 10.57 275008 chr9 132662825 132662825 G C rs111319812 FNBP1 Nonsynonymous SNV A448G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 Benign 16.21 275009 chr9 134136225 134136225 G A rs201778288 FAM78A Nonsynonymous SNV P279L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 275010 chr7 23810628 23810628 A G rs776162483 STK31 Nonsynonymous SNV Q550R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 275011 chr3 124376650 124376650 C T rs115886457 KALRN Synonymous SNV H282H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.7 275012 chr9 100965647 100965647 C A TBC1D2 Nonsynonymous SNV A272S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 275013 chr3 125828800 125828800 C T rs76009701 ALDH1L1 Synonymous SNV Q677Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.733 275014 chr9 135202003 135202003 G C rs146873848 SETX Nonsynonymous SNV P1661R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.86 275015 chr3 126070941 126070941 G A rs138576711 KLF15 Synonymous SNV P275P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.487 275016 chr7 12610518 12610518 G A rs374442574 SCIN Nonsynonymous SNV A36T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 275017 chr3 126194551 126194551 G T rs149963292 ZXDC Nonsynonymous SNV A53E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.44 275018 chr3 126708375 126708375 G A rs6809502 PLXNA1 Synonymous SNV Q313Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 1.243 275019 chr3 126733176 126733176 G A rs182679484 PLXNA1 Synonymous SNV A854A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.04 275020 chr9 135553885 135553885 G A rs764760396 GTF3C4 Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.655 275021 chr3 127318358 127318358 T G rs3087452 MCM2 Nonsynonymous SNV D68E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.47 275022 chr19 38379345 38379345 C T rs761887953 WDR87 Nonsynonymous SNV A1656T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 275023 chr9 110248089 110248089 G A rs545779827 KLF4 Synonymous SNV C495C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.267 275024 chr9 138555209 138555209 A G rs151284525 LCN9 Synonymous SNV A14A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.194 275025 chr3 129130023 129130023 C T rs80141922 EFCAB12 Nonsynonymous SNV R338H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 275026 chr3 129225283 129225283 G A rs61741773 IFT122 Synonymous SNV A783A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.88 275027 chr3 129237990 129237990 C T rs149884307 IFT122 Synonymous SNV I1034I 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.74 275028 chr9 115626531 115626531 C T rs375900061 SNX30 Nonsynonymous SNV P369L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 275029 chr7 44839005 44839005 C T PPIA Synonymous SNV L39L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 275030 chr3 133098996 133098996 G A rs35846010 TMEM108 Synonymous SNV P147P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.922 275031 chr3 133099296 133099296 A G rs143399570 TMEM108 Synonymous SNV S247S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.048 275032 chr7 48556328 48556328 A G rs78734445 ABCA13 Nonsynonymous SNV T4550A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 275033 chr9 123912758 123912758 C T CNTRL Synonymous SNV N768N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 275034 chr3 141497619 141497619 G A rs754472954 GRK7 Nonsynonymous SNV D165N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 275035 chr9 140952247 140952247 C T rs75394126 CACNA1B Synonymous SNV Y1344Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.9 275036 chr9 140953125 140953125 G A rs2229947 CACNA1B Synonymous SNV P1471P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.749 275037 chr3 142681095 142681095 G A rs144482937 PAQR9 Synonymous SNV L362L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 2.91 275038 chr7 6063223 6063223 C T rs367931587 AIMP2 Synonymous SNV I219I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 275039 chr7 64852848 64852848 T C rs770955643 ZNF92 Nonsynonymous SNV F13L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 275040 chr9 128697844 128697844 C G rs774100971 PBX3 Synonymous SNV A192A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 275041 chr3 155560338 155560338 G A SLC33A1 Synonymous SNV N282N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 275042 chr10 6268177 6268177 C T rs143645269 PFKFB3 Nonsynonymous SNV P435L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.9 275043 chr7 75441117 75441117 G A CCL24 Synonymous SNV C119C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.864 275044 chr9 130529185 130529185 G A rs1005516759 SH2D3C Synonymous SNV C102C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.902 275045 chr7 64168211 64168211 A G rs761399289 ZNF107 Nonsynonymous SNV Q547R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.228 275046 chr10 12866539 12866539 G A CAMK1D Synonymous SNV K303K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 275047 chr7 86416359 86416359 G A GRM3 Synonymous SNV K417K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.821 275048 chr3 173993121 173993121 C T rs141344754 NLGN1 Synonymous SNV G221G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 275049 chr3 179310464 179310464 G A rs138785691 MRPL47 Synonymous SNV F89F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 275050 chr3 183226025 183226025 C T rs114212192 KLHL6 Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 275051 chr19 49131285 49131285 G T SPHK2 Nonsynonymous SNV D203Y 0 0 0 1 0 0 0.003 0 0 0 0 0 32 275052 chr3 183700682 183700682 C T rs746781013 ABCC5 Synonymous SNV S235S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 275053 chr3 184144675 184144675 A G rs77099089 LINC02054 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 275054 chr3 184573603 184573603 A G rs16859356 VPS8 Synonymous SNV L367L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.17 275055 chr10 28142294 28142294 - ATAAATAA rs143299831 ARMC4 0.002 0 0 0 2 0 0 0 1 0 0 0 275056 chr3 184801099 184801099 G A rs61747892 C3orf70 Nonsynonymous SNV P150L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 23.1 275057 chr3 186362658 186362658 G A rs148507156 FETUB Synonymous SNV E116E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.229 275058 chr19 50155368 50155373 CCGCTC - SCAF1 R581_S582del 0 0 0 1 0 0 0.003 0 0 0 0 0 275059 chr8 104145151 104145151 T C rs189274470 LINC01181 0 0 0.003 0 0 0 0 1 0 0 0 0 0.606 275060 chr3 187416757 187416757 A G rs191461183 RTP2 Synonymous SNV H69H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 275061 chr3 187416758 187416758 - A rs536858378 RTP2 Frameshift insertion H69Lfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 275062 chr3 187416763 187416763 A - rs113892051 RTP2 A68Pfs*109 0.001 0 0 0 1 0 0 0 0 0 0 0 275063 chr3 187447566 187447566 G A rs33922911 BCL6 Synonymous SNV S209S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.865 275064 chr9 139391932 139391932 G A rs373806373 NOTCH1 Nonsynonymous SNV R2087W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 275065 chr8 113358369 113358369 G A rs141293957 CSMD3 Synonymous SNV S1933S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 275066 chr3 195306219 195306219 G A rs5953 APOD Synonymous SNV D38D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.508 275067 chr3 195501162 195501162 G A rs151016062 MUC4 Nonsynonymous SNV P33S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.101 275068 chr10 48371325 48371325 A G rs150817564 ZNF488 Nonsynonymous SNV T265A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 275069 chr8 125534437 125534437 G A TATDN1 Synonymous SNV D31D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 275070 chr4 467934 467934 G A rs114019487 ABCA11P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 275071 chr4 755144 755144 G A rs141712126 PCGF3 Synonymous SNV A180A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.32 275072 chr10 697122 697122 C T rs576549722 PRR26 Nonsynonymous SNV R98C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 275073 chr10 3187794 3187794 C T rs375275458 PITRM1 Synonymous SNV T719T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 275074 chr8 143747295 143747295 C A JRK Nonsynonymous SNV Q61H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.967 275075 chr4 3076693 3076693 - CCGCCGCCT rs547233813 HTT P49_Q50insPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 275076 chr1 1235237 1235237 G A ACAP3 Stop gain R238X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 275077 chr4 4543620 4543620 T C rs142855889 STX18 Synonymous SNV G24G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.229 275078 chr10 15145817 15145817 C T rs376150184 RPP38 Synonymous SNV I168I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 275079 chr19 54867853 54867853 A C LAIR1 Nonsynonymous SNV L199R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.57 275080 chr4 6293654 6293654 G A rs761245713 WFS1 Synonymous SNV A214A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 7.295 275081 chr4 6303017 6303017 C T rs114152068 WFS1 Nonsynonymous SNV L499F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.918 275082 chr4 6303857 6303857 G A rs141328044 WFS1 Nonsynonymous SNV V779M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24 275083 chr4 6577051 6577051 C T rs78161944 MAN2B2 Synonymous SNV D38D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 275084 chr4 6602378 6602378 G A rs73796294 MAN2B2 Synonymous SNV S427S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 7.164 275085 chr4 6621722 6621722 G T rs78413540 MAN2B2 Nonsynonymous SNV L910F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 275086 chr4 7436151 7436151 T C rs61738663 PSAPL1 Synonymous SNV P152P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.07 275087 chr8 145151150 145151150 G A rs780421772 CYC1 Synonymous SNV A150A 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 11.99 275088 chr4 8238090 8238090 C T rs146227399 SH3TC1 Nonsynonymous SNV T1088M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 275089 chr4 8272016 8272016 C T rs773315948 HTRA3 Synonymous SNV S107S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 275090 chr4 8583209 8583209 C G rs115973873 GPR78 Nonsynonymous SNV P167R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 275091 chr8 145535871 145535871 - GC HSF1 Frameshift insertion P362Afs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 275092 chr4 8607756 8607756 C T rs115075586 CPZ Synonymous SNV N239N 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 14.16 275093 chr7 123276892 123276892 C T rs749450721 ASB15 Nonsynonymous SNV R542W 0.003 0 0 0 3 0 0 0 0 0 0 0 35 275094 chr4 8621239 8621239 G A rs78537066 CPZ Synonymous SNV P607P 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 3.644 275095 chr4 13603606 13603606 C T rs73817502 BOD1L1 Nonsynonymous SNV A1640T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.42 275096 chr10 97373821 97373821 T C rs370563590 ALDH18A1 Nonsynonymous SNV Q356R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.94 275097 chr4 30724178 30724178 G A rs62000978 PCDH7 Synonymous SNV V378V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.139 275098 chr4 37962604 37962604 C G rs62000398 PTTG2 Nonsynonymous SNV F183L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 275099 chr4 38051458 38051458 G A rs78097286 TBC1D1 Nonsynonymous SNV V617I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.488 275100 chr10 46999330 46999330 T C rs782348449 GPRIN2 Synonymous SNV P150P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 275101 chr8 22458835 22458835 G T rs376781326 C8orf58 Nonsynonymous SNV D161Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 275102 chr4 38933900 38933900 G T rs10014670 FAM114A1 Synonymous SNV A249A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.377 275103 chr10 47086870 47086870 C T rs782806221 NPY4R, NPY4R2 Synonymous SNV N29N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.323 275104 chr4 39512325 39512325 G A rs115137663 UGDH Nonsynonymous SNV R44C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275105 chr4 39522995 39522995 A G rs10025178 UGDH Synonymous SNV N46N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.458 275106 chr10 49944167 49944167 C T rs765121912 WDFY4 Stop gain R644X 0.001 0 0 0 1 0 0 0 0 0 0 0 3.269 275107 chr4 41683047 41683047 T C rs61744806 LIMCH1 Nonsynonymous SNV S679P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 275108 chr4 46060593 46060593 G A rs139684526 GABRG1 Synonymous SNV S224S 0.001 0 0 0 1 0 0 0 0 0 0 0 12 275109 chr4 47525088 47525088 G A rs114311534 ATP10D Nonsynonymous SNV R182H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.3 275110 chr4 47548810 47548810 T A rs6843325 ATP10D Nonsynonymous SNV F522L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 275111 chr4 48384619 48384619 G A rs111512432 SLAIN2 Synonymous SNV R299R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.46 275112 chr4 48990552 48990552 G T rs141376548 CWH43 Nonsynonymous SNV L7F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 275113 chr4 53731802 53731802 G A rs28416473 RASL11B Nonsynonymous SNV A193T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 275114 chr8 38123688 38123688 C T rs34418062 PLPP5 Nonsynonymous SNV R70H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 275115 chr8 38865445 38865445 A G rs769540240 ADAM9 Nonsynonymous SNV I46M 0 0 0.003 0 0 0 0 1 0 0 0 0 25 275116 chr8 39468183 39468183 T C rs747999507 ADAM18 Synonymous SNV I160I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.746 275117 chr10 106139850 106139850 G A rs146462239 CFAP58 Nonsynonymous SNV A413T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.09 275118 chr10 71902505 71902505 C T rs200162235 TYSND1 Nonsynonymous SNV V468I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 275119 chr19 651807 651807 C A RNF126 Nonsynonymous SNV A83S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 275120 chr4 71510368 71510368 C T rs61737041 ENAM Synonymous SNV S857S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.955 275121 chr4 72412109 72412109 C A rs201643562 SLC4A4 Nonsynonymous SNV L785I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 275122 chr19 6760940 6760940 C T rs866094093 SH2D3A Nonsynonymous SNV R43H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 275123 chr4 73149028 73149028 G A rs35780102 ADAMTS3 Nonsynonymous SNV P1148L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.384 275124 chr10 74890613 74890613 G T NUDT13 Synonymous SNV L248L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.326 275125 chr8 2910102 2910102 G A rs1013825872 CSMD1 Synonymous SNV D2514D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.341 275126 chr4 87728963 87728963 G A PTPN13 Nonsynonymous SNV M2141I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 275127 chr4 89015781 89015781 T A rs34264773 ABCG2 Nonsynonymous SNV K586N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 275128 chr10 131557574 131557574 G A rs3750824 MGMT Nonsynonymous SNV R128Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275129 chr4 96140241 96140241 C T rs147827953 UNC5C Synonymous SNV S508S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 275130 chr9 104170999 104170999 A G rs749565506 ZNF189 Nonsynonymous SNV K303E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 275131 chr4 104512808 104512808 T G rs34550211 TACR3 Synonymous SNV T307T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 11.06 275132 chr4 104577366 104577366 T C rs35085919 TACR3 Synonymous SNV L291L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 7.839 275133 chr4 106320250 106320250 C A rs148492084 PPA2 Nonsynonymous SNV V77L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 275134 chr10 99141182 99141182 G A rs755533722 RRP12 Nonsynonymous SNV S360L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 275135 chr19 9063644 9063644 G A MUC16 Synonymous SNV H7934H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 275136 chr19 9066912 9066912 G A rs780491549 MUC16 Nonsynonymous SNV T6845I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275137 chr4 109584429 109584429 G A rs143647501 OSTC Nonsynonymous SNV V158M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 275138 chr9 112166792 112166792 A G rs762374942 PTPN3 Nonsynonymous SNV L298S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 275139 chr4 110687723 110687723 T A rs61745205 CFI Synonymous SNV T105T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.64 275140 chr4 113351809 113351809 A T rs61747432 ALPK1 Nonsynonymous SNV H291L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.612 275141 chr4 113352098 113352098 G A rs34479404 ALPK1 Synonymous SNV S387S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 275142 chr9 117166200 117166200 C T WHRN Synonymous SNV R447R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.701 275143 chr10 104245407 104245407 A G rs149491902 ACTR1A Synonymous SNV N133N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.173 275144 chr1 108303461 108303461 C T rs139065569 VAV3 Nonsynonymous SNV R321Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29 275145 chr1 108697685 108697685 G A rs200993204 SLC25A24 Nonsynonymous SNV R248C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 275146 chr10 112724801 112724801 C A rs759669812 SHOC2 Nonsynonymous SNV Q229K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 275147 chr1 20976854 20976854 C A PINK1-AS 0.002 0 0 0 2 0 0 0 0 0 0 0 7.621 275148 chr1 20005758 20005758 - C rs752215098 HTR6 Frameshift insertion L410Afs*67 0.001 0 0 0 1 0 0 0 0 0 0 0 275149 chr1 21031010 21031010 G A rs76507805 KIF17 Synonymous SNV R351R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.66 275150 chr11 1307286 1307286 C T rs146176131 TOLLIP Nonsynonymous SNV V136M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 275151 chr11 1093229 1093229 - GGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACAACGACACCCATCACCACCACCACCAT MUC2 T1697_S1698insTTPITTTTMVTPTPTPTGTQTPT 0.001 0 0 0 1 0 0 0 0 0 0 0 275152 chr10 118425172 118425172 G A rs62641727 C10orf82 Nonsynonymous SNV T74M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 275153 chr11 1651191 1651199 GGCTGTGGA - rs756450338 KRTAP5-5 G47_G49del 0 0.005 0 0 0 2 0 0 0 1 0 0 275154 chr10 118969353 118969353 C A rs363360 KCNK18 Nonsynonymous SNV A233E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 275155 chr10 119768608 119768608 G A rs77914264 RAB11FIP2 Synonymous SNV Y480Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.439 275156 chr10 123247550 123247550 G A rs35337478 FGFR2 Synonymous SNV L535L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.41 275157 chr4 167921525 167921525 T C rs9685645 SPOCK3 Nonsynonymous SNV I20V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 275158 chr4 169176862 169176862 A T rs377076111 DDX60 Nonsynonymous SNV I1186K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.101 275159 chr8 87440046 87440046 G A WWP1 Synonymous SNV S444S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 275160 chr8 97251893 97251893 A C MTERF3 Nonsynonymous SNV F170L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.002 275161 chr1 204926911 204926911 C T rs61741836 NFASC Synonymous SNV H215H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 275162 chr11 3062112 3062112 C T rs770021921 CARS-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.406 275163 chr1 1267496 1267496 G A rs146097837 TAS1R3 Synonymous SNV T195T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.873 275164 chr1 206756686 206756688 AGA - rs781906842 RASSF5 K70del 0.001 0 0 0 1 0 0 0 0 0 0 0 275165 chr4 186548011 186548011 A C rs1802262 SORBS2 Synonymous SNV S203S 0.002 0 0 0 2 0 0 0 1 0 0 0 7.398 275166 chr11 5080321 5080321 G A OR52E2 Synonymous SNV T179T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.214 275167 chr4 186997839 186997839 A G rs146166844 TLR3 Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.373 275168 chr1 1372773 1372773 C T rs11556017 VWA1 Nonsynonymous SNV R49C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.41 275169 chr1 1374762 1374762 G A rs546896256 VWA1 Synonymous SNV S311S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.454 275170 chr4 187130042 187130042 G A rs61755911 CYP4V2 Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.387 275171 chr4 187172703 187172703 T G rs4253377 KLKB1 Nonsynonymous SNV F311V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.996 275172 chr9 138418321 138418321 C T LCN1 Synonymous SNV P220P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.189 275173 chr9 139272098 139272098 G A rs139568835 SNAPC4 Nonsynonymous SNV S1394L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.11 275174 chr9 139396933 139396933 G A rs61751536 NOTCH1 Synonymous SNV T1725T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.75 275175 chr5 162929 162929 G C rs75342794 PLEKHG4B Synonymous SNV S914S 0.003 0 0.007 0 3 0 0 2 0 0 0 0 4.678 275176 chr5 206016 206016 C T rs11557427 CCDC127 Nonsynonymous SNV R60H 0.003 0 0.007 0 3 0 0 2 0 0 0 0 9.399 275177 chr5 459566 459566 C T rs777676282 EXOC3 Synonymous SNV F461F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 275178 chr9 139907255 139907255 G A rs779765877 ABCA2 Nonsynonymous SNV R1664W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 275179 chr1 228871610 228871610 C T rs760283818 RHOU Nonsynonymous SNV R41C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 27.4 275180 chr1 216221886 216221886 A T rs754250829 USH2A Synonymous SNV T2051T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.456 275181 chr5 1335194 1335194 G A rs116659965 CLPTM1L Synonymous SNV A258A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 275182 chr5 1406387 1406387 G A rs114563841 SLC6A3 Synonymous SNV S505S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.61 275183 chr5 5235252 5235252 G A rs61743639 ADAMTS16 Nonsynonymous SNV R659Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 275184 chr1 21976269 21976269 G C rs369013690 RAP1GAP Nonsynonymous SNV S22C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 275185 chr1 231061381 231061381 A C TTC13 Nonsynonymous SNV H437Q 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.887 275186 chr9 140437244 140437244 G A PNPLA7 Synonymous SNV G147G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 275187 chr5 13719207 13719207 C T DNAH5 Nonsynonymous SNV G4095R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 275188 chr5 13754410 13754410 A G rs141651941 DNAH5 Nonsynonymous SNV M3486T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 275189 chr9 17415817 17415817 C A rs779587318 CNTLN Nonsynonymous SNV P942Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.65 275190 chr5 16682026 16682026 C T rs2288439 MYO10 Synonymous SNV R1381R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.25 275191 chr5 31526531 31526531 G A rs77034974 DROSHA Nonsynonymous SNV P170L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.319 275192 chr5 32239220 32239220 G A rs61757722 MTMR12 Nonsynonymous SNV P411S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 275193 chr1 155823525 155823525 T C rs757786888 GON4L Nonsynonymous SNV Q16R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 275194 chr1 225700389 225700389 T C rs141466987 ENAH Synonymous SNV T464T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.053 275195 chr5 34005899 34005899 C T rs16892150 AMACR Nonsynonymous SNV R118Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.56 275196 chr11 6651807 6651807 C G rs1022229302 DCHS1 Synonymous SNV T1406T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 275197 chr5 34949717 34949717 T G rs933683147 DNAJC21 Nonsynonymous SNV L419V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275198 chr11 6530275 6530275 A G rs77615924 DNHD1 Synonymous SNV P362P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.45 275199 chr11 6816914 6816914 C T rs758983599 OR6A2 Nonsynonymous SNV R9K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 275200 chr5 35909989 35909989 T C rs76216968 CAPSL Synonymous SNV S168S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.986 275201 chr5 35955875 35955875 T G rs61734786 UGT3A1 Synonymous SNV P389P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.445 275202 chr5 37350299 37350299 A G rs138533658 NUP155 Synonymous SNV L264L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.099 275203 chr11 6898196 6898196 C A rs189046849 OR10A4 Nonsynonymous SNV F106L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.481 275204 chr11 1093410 1093410 C A rs754188057 MUC2 Synonymous SNV T1743T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.886 275205 chr11 1093411 1093411 A T MUC2 Nonsynonymous SNV T1744S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 275206 chr11 1098648 1098648 G T MUC2 Nonsynonymous SNV A2340S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.7 275207 chr11 8704812 8704812 G A rs769890764 RPL27A Nonsynonymous SNV G23S 0 0.005 0 0 0 2 0 0 0 0 0 0 22.9 275208 chr9 5825170 5825170 G A rs754836111 ERMP1 Synonymous SNV R230R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 275209 chr5 52235418 52235418 A G rs1018042127 ITGA1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 275210 chr9 6888030 6888030 A G rs141565975 KDM4C Synonymous SNV S69S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 3.776 275211 chr1 230795281 230795281 C T rs746683938 COG2 Synonymous SNV D48D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 275212 chr1 161199502 161199502 C T rs34645321 NR1I3 Synonymous SNV P258P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 275213 chr11 2688285 2688285 G A rs188083723 KCNQ1OT1 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 17.26 275214 chr11 17424246 17424246 G A rs149861153 ABCC8 Synonymous SNV A1204A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.748 275215 chr11 4406615 4406615 C T rs755771107 TRIM21 Nonsynonymous SNV R443Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 275216 chr11 17464413 17464413 C T ABCC8 Nonsynonymous SNV R495Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 275217 chr1 23519919 23519919 G A rs6299 HTR1D Nonsynonymous SNV S265L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.1 275218 chr5 71491311 71491311 A G rs138733653 MAP1B Nonsynonymous SNV K584R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.609 275219 chr5 71495728 71495728 C T rs77733766 MAP1B Synonymous SNV D2056D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.68 275220 chr11 16863245 16863245 G T rs35908144 PLEKHA7 Nonsynonymous SNV L241I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 275221 chr5 73072425 73072425 G A rs543088628 ARHGEF28 Synonymous SNV T248T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.55 275222 chr11 17743007 17743007 G A rs201495274 MYOD1 Synonymous SNV P305P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.06 275223 chr9 95481364 95481364 A G BICD2 Synonymous SNV S521S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 275224 chr11 5373332 5373332 G A rs775043301 OR51B6 Nonsynonymous SNV V199I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.449 275225 chr9 35102729 35102729 G A STOML2 Nonsynonymous SNV A46V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275226 chr1 167654716 167654716 C G rs145561033 RCSD1 Nonsynonymous SNV P56R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 275227 chr11 25004730 25004730 G A rs141562546 LUZP2 Nonsynonymous SNV R177H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 275228 chrX 11316742 11316742 C A rs2106416 AMELX Nonsynonymous SNV H57Q 0 0 0.007 0 0 0 0 2 0 0 1 0 6.946 275229 chrX 120181731 120181731 A G rs767932211 GLUD2 Nonsynonymous SNV N65D 0 0 0.007 0 0 0 0 2 0 0 1 0 9.173 275230 chrX 138529051 138529051 - GGCGAC SRD5A1P1 0 0 0.007 0 0 0 0 2 0 0 1 0 275231 chr11 36595851 36595851 T C rs1041695603 RAG1 Nonsynonymous SNV Y333H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 275232 chr5 96076976 96076976 A C rs140434940 CAST Nonsynonymous SNV I172L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.52 275233 chr5 96222360 96222360 T C rs80193285 ERAP2 Nonsynonymous SNV V239A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.01 275234 chr11 48181568 48181568 G A rs373764833 PTPRJ Synonymous SNV P1175P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 275235 chr5 112179268 112179268 G A APC Synonymous SNV V2641V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.155 275236 chr11 6953813 6953813 G T ZNF215 Nonsynonymous SNV V104F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 275237 chr5 112850997 112850997 T C rs765981025 YTHDC2 Synonymous SNV S72S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.745 275238 chrX 31893387 31893387 T C rs398124041 DMD Nonsynonymous SNV H998R 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 4.923 275239 chrX 3190346 3190346 T C rs188286753 LINC01546 0 0 0.007 0 0 0 0 2 0 0 1 0 9.079 275240 chrX 41031102 41031102 G C rs187054520 USP9X Synonymous SNV L1013L 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 8.409 275241 chr5 115833032 115833032 A G rs200884374 SEMA6A Synonymous SNV Y90Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.782 275242 chrX 48650531 48650531 C T rs148357840 GATA1 Synonymous SNV D167D 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 7.916 275243 chr5 121785608 121785608 G A rs147524026 SNCAIP Nonsynonymous SNV G150D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.8 275244 chr1 27224123 27224123 G A rs149600354 GPATCH3 Nonsynonymous SNV P182L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 275245 chr11 8737266 8737266 C T rs151201057 DENND2B Nonsynonymous SNV D157N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275246 chrX 74962148 74962148 G A rs781183901 TTC3P1 0 0 0.007 0 0 0 0 2 0 0 1 0 7.147 275247 chr5 131676382 131676382 G A rs146182196 SLC22A4 Synonymous SNV Q523Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.44 275248 chr5 134346173 134346173 C T rs140770176 CATSPER3 Synonymous SNV I349I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.822 275249 chr11 55339932 55339932 T C rs766592807 OR4C16 Nonsynonymous SNV I110T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 275250 chr10 101163297 101163297 C A rs542246172 GOT1 Nonsynonymous SNV W296C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 275251 chr10 101591418 101591418 G A rs3740070 ABCC2 Synonymous SNV S978S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.056 275252 chr1 196684755 196684755 A G CFH Nonsynonymous SNV R518G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.576 275253 chr10 102689118 102689118 - C SLF2 Frameshift insertion R697Pfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 275254 chr10 102766875 102766875 G A rs183747098 LZTS2 Nonsynonymous SNV E434K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 275255 chr5 139422511 139422511 - CTGCTGCTGCTGCCGCTCTCGCTGCTGCTGCTGCTGCCGCTCTCGCTG NRG2 S47_R48insSSESGSSSSSESGSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 275256 chr10 106153199 106153199 A T rs150206828 CFAP58 Nonsynonymous SNV Q547L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.66 275257 chr5 140187173 140187173 C T rs146575746 PCDHA4 Nonsynonymous SNV P134L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 275258 chr11 20104635 20104635 C T rs554606874 NAV2 Nonsynonymous SNV T867M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275259 chr5 140307377 140307377 T C rs12522306 PCDHAC1 Synonymous SNV G300G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 275260 chr11 31455027 31455027 T C IMMP1L Nonsynonymous SNV R138G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 275261 chr1 204429493 204429493 G A rs78930382 PIK3C2B Synonymous SNV L487L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 275262 chr11 33563967 33563967 C T rs77371724 KIAA1549L Synonymous SNV N286N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.389 275263 chr11 34097795 34097795 A G rs776921720 CAPRIN1 Nonsynonymous SNV I127V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.799 275264 chr9 123624970 123624970 G A rs116383982 PHF19 Synonymous SNV R133R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 275265 chr10 119798934 119798934 G A rs184218805 RAB11FIP2 Nonsynonymous SNV H272Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 275266 chr9 124118370 124118370 G A rs766503763 STOM Synonymous SNV T42T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 275267 chr11 36484221 36484221 G A rs745852254 PRR5L Nonsynonymous SNV G220R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 275268 chr11 44265800 44265800 A G EXT2 Nonsynonymous SNV E740G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 275269 chr5 148929736 148929736 T C rs372517963 CSNK1A1 Synonymous SNV A44A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.213 275270 chr11 57798734 57798734 C G OR6Q1 Nonsynonymous SNV Q104E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 275271 chr1 209933473 209933473 G A rs142003331 TRAF3IP3 Nonsynonymous SNV R30H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 275272 chr9 127262992 127262992 C T NR5A1 Nonsynonymous SNV V83M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 275273 chr11 48327850 48327850 T C OR4S1 Nonsynonymous SNV F26L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 275274 chr5 150843642 150843642 T C rs73796590 SLC36A1 Nonsynonymous SNV I38T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 275275 chr1 22200453 22200453 C T rs202214491 HSPG2 Synonymous SNV A1237A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 21.9 275276 chr1 50513850 50513850 A G rs749343723 ELAVL4 Nonsynonymous SNV N5S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.732 275277 chr10 134219471 134219471 C T rs775688470 PWWP2B Synonymous SNV A489A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 275278 chr10 134622030 134622030 G A rs372744002 CFAP46 Synonymous SNV C2681C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.98 275279 chr9 131860298 131860298 G A rs775405756 CRAT Synonymous SNV S486S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 275280 chr5 157236719 157236719 C G rs73310973 CLINT1 Synonymous SNV L204L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 275281 chr5 157241299 157241299 C T rs376898316 CLINT1 Synonymous SNV S82S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.74 275282 chr5 161324380 161324380 G A rs138259457 GABRA1 Synonymous SNV T441T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.94 275283 chr10 14709658 14709658 G A rs149371316 FAM107B Synonymous SNV L148L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.348 275284 chr11 60617725 60617725 G A rs573397831 CCDC86 Nonsynonymous SNV R337H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 275285 chr5 172578572 172578572 G A rs148654994 BNIP1 Nonsynonymous SNV V61I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 275286 chr10 25314068 25314068 T C rs762809982 THNSL1 Nonsynonymous SNV L639S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 275287 chr1 228404306 228404306 G C OBSCN Synonymous SNV R760R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.216 275288 chr10 27066039 27066039 T C rs150271537 ABI1 Synonymous SNV K139K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 6.27 275289 chr9 136308670 136308670 C T ADAMTS13 Nonsynonymous SNV P803L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 275290 chr11 62520170 62520170 G A rs150580761 ZBTB3 Nonsynonymous SNV P323S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.161 275291 chr5 176814874 176814874 G A SLC34A1 Nonsynonymous SNV R215Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 275292 chr11 62655818 62655818 C T rs7944051 SLC3A2 Nonsynonymous SNV P415S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.24 275293 chr5 177421297 177421297 C G rs2233783 PROP1 Nonsynonymous SNV G51A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 275294 chr5 177570636 177570636 G A rs114916116 RMND5B Synonymous SNV T132T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.975 275295 chr11 62996022 62996022 G A rs79237594 SLC22A25 Synonymous SNV C139C 0 0.003 0 0 0 1 0 0 0 0 0 0 5.531 275296 chr5 177637561 177637561 T C rs114079130 HNRNPAB Synonymous SNV G265G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 275297 chr11 63072185 63072185 G A rs78796580 SLC22A10 Synonymous SNV T474T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.359 275298 chr1 228562444 228562444 C T rs370119812 OBSCN Nonsynonymous SNV R7552W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 275299 chr1 228698325 228698325 G A rs1019659949 BTNL10 Nonsynonymous SNV A121V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.938 275300 chr1 229730118 229730118 C T rs748830777 TAF5L Nonsynonymous SNV V566I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 275301 chr11 64054095 64054095 G C rs961943054 GPR137 Synonymous SNV L33L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.842 275302 chr10 46122014 46122014 C T rs765918675 ZFAND4 Synonymous SNV A419A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.281 275303 chr11 65321622 65321622 G A rs772833011 LTBP3 Synonymous SNV A187A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 275304 chr11 64428359 64428359 G T rs764691572 NRXN2 Nonsynonymous SNV P653H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 275305 chr9 139700690 139700690 G A rs199902918 CCDC183 Nonsynonymous SNV S370N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 275306 chr11 65340327 65340327 G A FAM89B Nonsynonymous SNV D63N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 275307 chr1 86826133 86826133 G C rs539556239 ODF2L Synonymous SNV T250T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.233 275308 chr1 2410048 2410048 C G PLCH2 Nonsynonymous SNV N59K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 275309 chr20 23383655 23383655 C T rs563677260 NAPB Nonsynonymous SNV M51I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 275310 chr11 58125812 58125812 A G rs61741322 OR5B17 Nonsynonymous SNV I244T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275311 chr11 71194032 71194032 C T rs149234649 NADSYN1 Nonsynonymous SNV R430W 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 275312 chr11 58170462 58170462 G A rs12284790 OR5B3 Nonsynonymous SNV R141C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.227 275313 chr11 58190578 58190578 G T rs114959091 OR5B2 Nonsynonymous SNV L53I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 275314 chr11 68682436 68682436 G A rs200566598 IGHMBP2 Nonsynonymous SNV R286Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.1 275315 chr11 58274744 58274744 T A rs79301780 OR5B21 Nonsynonymous SNV I279F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 275316 chr11 58347028 58347028 C T rs116054810 ZFP91 Nonsynonymous SNV P92S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 275317 chr11 59131938 59131938 G A rs138705983 OR5AN1 Nonsynonymous SNV G3R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 275318 chr20 25655992 25655994 GAG - rs755177493 ZNF337 L644del 0.002 0 0 0 2 0 0 0 0 0 0 0 275319 chr6 24448227 24448227 G A rs1023012369 GPLD1 Nonsynonymous SNV A519V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 275320 chr20 30607035 30607035 - GGCGGC CCM2L G259_A260insGG 0.001 0 0 0 1 0 0 0 0 0 0 0 275321 chr20 31024034 31024034 G A rs117901891 ASXL1 Synonymous SNV L1112L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 10.41 275322 chr20 31024207 31024207 C T rs74638057 ASXL1 Nonsynonymous SNV S1170F 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 22.9 275323 chr6 26043876 26043876 G A rs139386667 H2BC3 Nonsynonymous SNV P4S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 275324 chr1 247695319 247695319 C T OR2C3 Nonsynonymous SNV M165I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 275325 chr11 73753234 73753234 C T rs766850120 C2CD3 Nonsynonymous SNV R1842H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 275326 chr11 74009258 74009258 C T rs539256211 P4HA3 Nonsynonymous SNV R239Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.02 275327 chr11 61017410 61017410 T A rs149836624 PGA5 Nonsynonymous SNV I314N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 275328 chr20 32878656 32878656 G A rs764398625 AHCY Nonsynonymous SNV A216V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 275329 chr11 61032619 61032619 G A rs61746696 VWCE Synonymous SNV D677D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.29 275330 chr1 9791877 9791877 T C rs140121733 CLSTN1 Synonymous SNV E816E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 275331 chr11 61044130 61044130 G T rs79096553 VWCE Nonsynonymous SNV S477Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 275332 chr11 61081141 61081141 G A rs2230357 DDB1 Synonymous SNV T633T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.725 275333 chr11 61120536 61120536 C T rs116452340 CYB561A3, TKFC Nonsynonymous SNV V157I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 275334 chr20 33585184 33585184 C G MYH7B Nonsynonymous SNV A1205G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 275335 chr20 33587056 33587056 G A rs567417872 MYH7B Nonsynonymous SNV R1505Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 275336 chr20 10632891 10632891 A G rs149897344 JAG1 Synonymous SNV N298N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.915 275337 chr6 28268667 28268667 G A rs148252586 PGBD1 Nonsynonymous SNV D346N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 27.1 275338 chr11 61722639 61722639 C T rs57132800 BEST1 Synonymous SNV S11S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.93 275339 chr10 75283400 75283400 G A rs187855853 USP54 Nonsynonymous SNV A711V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 275340 chr11 85375590 85375590 G A rs564237289 CREBZF Synonymous SNV L110L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.638 275341 chr20 36031619 36031619 G A rs753395244 SRC Nonsynonymous SNV R483Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 275342 chr11 62287206 62287206 G A AHNAK Nonsynonymous SNV P4895S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 275343 chr11 62292153 62292153 C A rs1038686051 AHNAK Nonsynonymous SNV G3246C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 275344 chr11 62293997 62293997 C G AHNAK Nonsynonymous SNV G2631A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 275345 chr10 81372182 81372182 C T rs780152354 SFTPA1 Nonsynonymous SNV P96L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 275346 chr10 81680202 81680202 C T rs573191625 MBL1P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 275347 chr11 62911036 62911036 G A rs377238314 SLC22A24 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.159 275348 chr6 36298059 36298059 C T rs74693071 BNIP5 Nonsynonymous SNV E137K 0.003 0 0 0 3 0 0 0 1 0 0 0 14.8 275349 chr11 93429991 93429991 C T rs369963505 CEP295 Nonsynonymous SNV P638L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.47 275350 chr11 64604225 64604225 C T rs147250208 CDC42BPG Nonsynonymous SNV R457Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.385 275351 chr6 39282954 39282954 T C KCNK16 Synonymous SNV P305P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.391 275352 chr11 102562724 102562724 G A rs141611002 MMP27 Nonsynonymous SNV R439C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 275353 chr11 64757664 64757664 C T rs4084085 BATF2 0.001 0 0 0 1 0 0 0 0 0 0 0 7.255 275354 chr11 64808919 64808921 AGG - rs942261108 SAC3D1 E53del 0.001 0 0 0 1 0 0 0 0 0 0 0 275355 chr11 64884936 64884936 G A rs34563314 ZNHIT2 Synonymous SNV L64L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.996 275356 chr1 31230582 31230582 C T rs146490774 LAPTM5 Nonsynonymous SNV R4H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 275357 chr20 2464423 2464423 G T ZNF343 Nonsynonymous SNV T305N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 275358 chr11 65385680 65385680 G A rs61741594 PCNX3 Nonsynonymous SNV D283N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 275359 chr11 65385742 65385742 C T rs61744396 PCNX3 Synonymous SNV S303S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.556 275360 chr6 42941800 42941800 T C rs116318004 PEX6 Synonymous SNV L357L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.931 275361 chr11 65632698 65632698 C T rs34962862 MUS81 Nonsynonymous SNV S471L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.9 275362 chr6 43027086 43027086 A T MRPL2 Nonsynonymous SNV S12T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 275363 chr11 108055964 108055964 G A NPAT Nonsynonymous SNV L301F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 275364 chr11 108168106 108168106 C T rs747317946 ATM Synonymous SNV L1668L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.15 275365 chr11 66010746 66010746 - CTGTCT rs898430306 PACS1 *964delinsVS* 0.001 0.003 0 0 1 1 0 0 0 0 0 0 275366 chr6 43411992 43411992 A G rs138057759 ABCC10 Nonsynonymous SNV K836E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 275367 chr6 43970504 43970518 GCGGCGGCGGCGGCG - rs747313073 C6orf223 0.001 0 0 0 1 0 0 0 0 0 0 0 275368 chr6 44081769 44081769 C T rs114324125 MRPL14 Synonymous SNV K49K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 275369 chr6 44093808 44093808 T A rs7752653 MRPL14 Nonsynonymous SNV Y8F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.932 275370 chr1 33959869 33959869 T C rs777546066 ZSCAN20 Nonsynonymous SNV F642S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.091 275371 chr11 66313441 66313441 C G rs960243155 ZDHHC24 Nonsynonymous SNV G12R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.265 275372 chr1 39788376 39788376 A C MACF1 Nonsynonymous SNV I1381L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 275373 chr6 44387305 44387305 T C rs11571982 CDC5L Synonymous SNV T404T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.552 275374 chr11 113683078 113683078 C A rs142728209 USP28 Nonsynonymous SNV R298I 0 0.003 0 0 0 1 0 0 0 0 0 0 34 275375 chr1 3425153 3425153 G A rs112803145 MEGF6 Synonymous SNV P543P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.4 275376 chr1 35226949 35226949 C T rs192813377 GJB4 Nonsynonymous SNV R32C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 275377 chr1 35250709 35250709 C T GJB3 Synonymous SNV L116L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.075 275378 chr20 34828253 34828253 A G AAR2 Nonsynonymous SNV I155V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 275379 chr6 49754106 49754106 G A rs774299538 PGK2 Synonymous SNV I265I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.072 275380 chr6 52054024 52054024 G A rs17880588 IL17A Synonymous SNV R134R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.12 275381 chr6 52876640 52876640 A G rs34168889 CILK1 Synonymous SNV Y473Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.019 275382 chr6 53516572 53516572 C T rs116517160 KLHL31 Nonsynonymous SNV E577K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 275383 chr11 118498721 118498721 G A PHLDB1 Synonymous SNV K394K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 275384 chr11 118629613 118629613 - G rs200755405 DDX6 0.001 0.003 0 0 1 1 0 0 0 0 0 0 275385 chr11 102220995 102220995 A G rs114363568 BIRC2 Nonsynonymous SNV H137R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.03 275386 chr11 119216279 119216279 - A rs730882143 MFRP Frameshift insertion N167Qfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 275387 chr11 108004655 108004655 G A rs772848693 ACAT1 Nonsynonymous SNV E77K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 275388 chr6 72892404 72892404 C G rs544554763 RIMS1 Synonymous SNV G410G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.67 275389 chr1 43317364 43317364 C T rs745928060 ZNF691 Synonymous SNV T245T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 275390 chr6 75890923 75890923 G A rs201266825 COL12A1 Synonymous SNV Y632Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.722 275391 chr6 78471294 78471294 G A rs78645594 MEI4 Nonsynonymous SNV S227N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.114 275392 chr11 112085561 112085561 A G rs374509038 BCO2 Nonsynonymous SNV Y397C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 275393 chr10 74714372 74714372 G C rs749224129 PLA2G12B Nonsynonymous SNV S24R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.295 275394 chr11 82878779 82878779 G A PCF11 Nonsynonymous SNV S775N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 275395 chr1 44774068 44774068 G A rs41311203 ERI3 Synonymous SNV V146V 0 0 0 3 0 0 0.008 0 0 0 0 0 15.19 275396 chr6 84292032 84292032 A C rs6912747 SNAP91 Synonymous SNV T379T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.125 275397 chr6 84634296 84634296 C G rs61382555 CYB5R4 Nonsynonymous SNV P267A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.1 275398 chr11 11374620 11374621 TT - rs757063204 CSNK2A3 N16Yfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 275399 chr11 113934112 113934112 C T rs150708066 ZBTB16 Synonymous SNV A30A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 275400 chr11 124739488 124739488 G A rs745923389 ROBO3 Synonymous SNV E210E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 10.46 275401 chr6 90348407 90348407 G T rs74466886 LYRM2 Nonsynonymous SNV T10K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 275402 chr6 90468058 90468058 C T rs750482238 MDN1 Nonsynonymous SNV R873Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 275403 chr6 90471392 90471392 T G rs116676252 MDN1 Nonsynonymous SNV E811A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 275404 chr6 90605480 90605480 C A GJA10 Nonsynonymous SNV S431R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 275405 chr11 126126739 126126739 G A rs768983486 FAM118B Nonsynonymous SNV G325D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.86 275406 chr6 96976396 96976396 G A rs147125574 UFL1 Nonsynonymous SNV G162S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 275407 chr6 97533187 97533187 G A rs141573368 KLHL32 Synonymous SNV L130L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 275408 chr6 97597803 97597803 G C rs112799955 MMS22L Nonsynonymous SNV H909Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 275409 chr6 100841755 100841755 A C rs775112789 SIM1 Nonsynonymous SNV F393C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 275410 chr6 102483426 102483426 G A rs3213608 GRIK2 Nonsynonymous SNV V766I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.54 275411 chr6 106960382 106960382 G C rs201789082 CRYBG1 Nonsynonymous SNV E56Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 275412 chr11 120707509 120707509 C G GRIK4 Nonsynonymous SNV L234V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 275413 chr12 2977870 2977870 C G rs143382475 FOXM1 Nonsynonymous SNV E234D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 275414 chr11 110007567 110007567 T C rs201003221 ZC3H12C Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 275415 chr12 6426731 6426731 C T rs572619533 PLEKHG6 Nonsynonymous SNV R264C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 275416 chr11 124623837 124623837 C T rs759294805 ESAM Nonsynonymous SNV R293Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 275417 chr11 124792675 124792675 G A rs965183840 HEPACAM Synonymous SNV Y281Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.889 275418 chr21 44329046 44329046 C T rs145389563 NDUFV3 Nonsynonymous SNV T81M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 275419 chr11 118898497 118898497 G A rs201036248 SLC37A4 Nonsynonymous SNV A156V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.28 275420 chr11 126075465 126075465 C T rs369015729 RPUSD4 Nonsynonymous SNV V232M 0 0 0.003 0 0 0 0 1 0 0 0 0 21 275421 chr1 866422 866422 C T rs139210662 SAMD11 Synonymous SNV V86V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.11 275422 chr21 30330724 30330724 A C rs149472058 LTN1 Nonsynonymous SNV S897A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 275423 chr6 147067078 147067078 G A rs190839126 ADGB Synonymous SNV A1066A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.863 275424 chr6 148841465 148841465 G A rs76979348 SASH1 Nonsynonymous SNV A310T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 275425 chr11 14853242 14853242 A G rs143372203 PDE3B Nonsynonymous SNV I671M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.276 275426 chr11 1605983 1605983 G C rs59007122 KRTAP5-1 Nonsynonymous SNV A166G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.648 275427 chr11 1605992 1605992 G C rs60899198 KRTAP5-1 Nonsynonymous SNV S163C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.921 275428 chr12 12303907 12303907 G T rs750043263 LRP6 Nonsynonymous SNV Q953K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 275429 chr12 21069177 21069177 A G rs368439565 SLCO1B3 Nonsynonymous SNV N674S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275430 chr11 124761378 124761378 G T rs762249155 ROBO4 Nonsynonymous SNV L444M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 275431 chr10 123846833 123846833 C T rs1002749520 TACC2 Synonymous SNV C1606C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 275432 chr11 126201357 126201357 G A rs773359297 DCPS Nonsynonymous SNV R152H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 275433 chr12 25380260 25380260 T C rs200229810 KRAS Synonymous SNV A66A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.524 275434 chr12 26572090 26572090 G A rs1022704355 ITPR2 Synonymous SNV T2334T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.23 275435 chr12 653594 653594 C T rs150421237 B4GALNT3 Synonymous SNV Y147Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.412 275436 chr20 17640331 17640331 T C rs765728510 RRBP1 Synonymous SNV T274T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.741 275437 chr12 48105557 48105557 C T rs199563836 ENDOU Stop gain W262X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 275438 chr12 48189511 48189511 G A rs201698457 HDAC7 Nonsynonymous SNV R279W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 275439 chr20 19870272 19870272 C T rs561287525 RIN2 Synonymous SNV R9R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 275440 chr12 49110401 49110401 C T rs367772894 CCNT1 Nonsynonymous SNV E20K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 275441 chr12 49375063 49375063 C T rs749839239 WNT1 Synonymous SNV D251D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.15 275442 chr12 50186299 50186299 G A rs757302905 NCKAP5L Nonsynonymous SNV A1241V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 275443 chr12 50744122 50744122 G A FAM186A Stop gain Q2165X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 275444 chr11 45924338 45924338 G A rs201203236 MAPK8IP1 Synonymous SNV S340S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.676 275445 chr12 6980442 6980442 G A rs61733180 SPSB2 Nonsynonymous SNV R236C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 275446 chr11 47202095 47202095 G A rs772207416 PACSIN3 Nonsynonymous SNV R120W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 275447 chr20 31374409 31374409 C T rs111877243 DNMT3B Synonymous SNV S136S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.92 275448 chr20 31388077 31388077 C T rs17123655 DNMT3B Synonymous SNV N530N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 15.82 275449 chr11 48267394 48267394 G A rs148278186 OR4X2 Nonsynonymous SNV V247I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 275450 chr20 31506315 31506315 G A rs779899075 EFCAB8 Nonsynonymous SNV V737M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 275451 chr7 7410391 7410391 A C rs76240858 COL28A1 Nonsynonymous SNV S1011A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 275452 chr20 32354829 32354829 C T ZNF341 Synonymous SNV T375T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 275453 chr20 2796331 2796331 G A C20orf141 Synonymous SNV L136L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.498 275454 chr7 25264794 25264794 T C rs750072656 NPVF 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 275455 chr7 29035397 29035397 A G rs151217521 CPVL Synonymous SNV Y296Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 275456 chr7 29152397 29152397 T C rs61736222 CPVL Star tloss M71V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275457 chr12 54795408 54795408 C A rs369973451 ITGA5 Nonsynonymous SNV R783L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 275458 chr12 54893194 54893194 C T rs201460980 NCKAP1L Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 275459 chr12 16369877 16369877 C G SLC15A5 Nonsynonymous SNV G478A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 275460 chr12 57440882 57440882 T C MYO1A Nonsynonymous SNV N147S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26 275461 chr7 32997323 32997323 G A rs141020449 FKBP9 Synonymous SNV E46E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 275462 chr7 33296960 33296960 C T rs35440033 BBS9 Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.62 275463 chr12 58142370 58142370 T C rs730881671 CDK4 Nonsynonymous SNV I284V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.73 275464 chr12 27841292 27841292 G A rs369668351 PPFIBP1 Nonsynonymous SNV R664H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 275465 chr7 37298914 37298914 C T rs142772798 ELMO1 Synonymous SNV S95S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 275466 chr12 57396835 57396835 G A ZBTB39 Nonsynonymous SNV H623Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 275467 chr7 43508620 43508620 C G rs191580199 HECW1 Nonsynonymous SNV D971E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 275468 chr11 55371785 55371785 T G rs761719469 OR4C11 Nonsynonymous SNV Q22P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 275469 chr7 45122019 45122019 G C rs561595152 NACAD Nonsynonymous SNV P1254A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.054 275470 chr12 64664496 64664496 T C C12orf56 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 275471 chr7 45125366 45125366 G A rs552286407 NACAD Nonsynonymous SNV A138V 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.277 275472 chr7 45216946 45216946 A C rs11550711 RAMP3 Nonsynonymous SNV M33L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.001 275473 chr12 49427082 49427082 C T rs958487410 KMT2D Synonymous SNV L3802L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.92 275474 chr12 88465649 88465649 T G rs746949236 CEP290 Nonsynonymous SNV I1922L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.54 275475 chr22 37581279 37581279 T C rs140874536 C1QTNF6 Nonsynonymous SNV I90V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.747 275476 chr12 88584323 88584323 C T TMTC3 Stop gain R313X 0 0.003 0 0 0 1 0 0 0 0 0 0 44 275477 chr12 106717297 106717297 C G TCP11L2 Nonsynonymous SNV F215L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 275478 chr11 57075883 57075883 G C rs773556931 TNKS1BP1 Synonymous SNV L1434L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 275479 chr11 57467497 57467497 G A rs199525387 ZDHHC5 Synonymous SNV S714S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 275480 chr20 56082800 56082800 A C CTCFL Nonsynonymous SNV S431A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.379 275481 chr12 112657285 112657285 G A rs751876604 HECTD4 Nonsynonymous SNV L2337F 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 275482 chr7 75958957 75958957 G A rs760447255 YWHAG Synonymous SNV R227R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 275483 chr12 104327746 104327746 A G HSP90B1 Nonsynonymous SNV K142E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 275484 chr12 105605021 105605021 - TCTC rs777900558 APPL2 Frameshift insertion K121Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 275485 chr12 106461465 106461465 C T rs61732799 NUAK1 Synonymous SNV S367S 0.003 0 0 0 4 0 0 0 0 0 0 0 11.24 275486 chr12 110475221 110475221 C T rs199565526 ANKRD13A Synonymous SNV S545S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.5 275487 chr12 53413725 53413725 G C rs201365536 EIF4B Nonsynonymous SNV S131T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 275488 chr12 112119590 112119590 G A rs774297024 BRAP Synonymous SNV P98P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.428 275489 chr12 112672918 112672918 C T rs766534435 HECTD4 Nonsynonymous SNV D1970N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 275490 chr11 61120521 61120521 C T rs202143954 CYB561A3, TKFC Nonsynonymous SNV A162T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 275491 chr20 61944197 61944197 G A COL20A1 Nonsynonymous SNV V663I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.592 275492 chr12 113592379 113592379 G C CFAP73 Nonsynonymous SNV G210A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.369 275493 chr12 113837366 113837366 T C rs142645909 SDS Nonsynonymous SNV K50E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 275494 chr12 55725967 55725967 C - rs781481585 OR6C3 Q162Sfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 275495 chr12 55725968 55725968 C G rs777107203 OR6C3 Nonsynonymous SNV Q162E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 275496 chr12 125432382 125432382 A G rs148973591 DHX37 Nonsynonymous SNV I1147T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.62 275497 chr7 99757982 99757982 T C rs140328330 GAL3ST4 Nonsynonymous SNV S344G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275498 chr11 62601147 62601147 C G rs189126082 LOC105369332, WDR74 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 275499 chr12 121154466 121154466 G A rs368276726 UNC119B Nonsynonymous SNV V132M 0.001 0.005 0 0 1 2 0 0 0 0 0 0 18.32 275500 chr12 121206813 121206813 C T rs142388619 SPPL3 Synonymous SNV P184P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.67 275501 chr2 100218011 100218013 GCT - rs756251519 AFF3 S444del 0.001 0 0 0 1 0 0 0 0 0 0 0 275502 chr12 123214319 123214319 C G HCAR1 Nonsynonymous SNV G190R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22 275503 chr21 30359188 30359188 C - LTN1 G37Vfs*9 0.002 0 0 1 2 0 0.003 0 0 0 0 0 275504 chr12 124258773 124258773 G A rs200209608 DNAH10 Nonsynonymous SNV A195T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.398 275505 chr12 124285848 124285848 G A rs758377842 DNAH10 Nonsynonymous SNV R710H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 275506 chr11 64846654 64846654 C T rs759268942 CDCA5 Synonymous SNV T228T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 275507 chr12 124092041 124092041 G T DDX55 Synonymous SNV S103S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 275508 chr21 31802890 31802890 T G rs773107532 KRTAP13-4 Synonymous SNV S99S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.226 275509 chr11 65294491 65294491 G A rs558695770 SCYL1 Nonsynonymous SNV R251H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 275510 chr12 80928680 80928680 A G PTPRQ Nonsynonymous SNV D778G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 275511 chr21 43855058 43855058 A T rs202199237 UBASH3A Nonsynonymous SNV I425F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 275512 chr12 132629083 132629083 G A NOC4L Nonsynonymous SNV R17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15 275513 chr11 66454622 66454622 A G rs201138924 SPTBN2 Nonsynonymous SNV Y2247H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 32 275514 chr7 100685742 100685742 C G rs151063765 MUC17 Nonsynonymous SNV T3682S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 275515 chr12 133810926 133810926 G A rs555648876 ANHX Nonsynonymous SNV T6I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.008 275516 chr2 170103400 170103400 T C LRP2 Nonsynonymous SNV Y1002C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 275517 chr21 43770042 43770042 G A rs141463867 TFF2 Synonymous SNV F59F 0 0 0 1 0 0 0.003 0 0 0 0 0 7.633 275518 chr12 108169329 108169329 G T ASCL4 Stop gain E113X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 275519 chr13 27845171 27845171 G A rs374115045 RASL11A Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 275520 chr2 136633920 136633920 C A rs754786359 MCM6 Nonsynonymous SNV A6S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 275521 chr2 173866058 173866058 G A rs35825006 RAPGEF4 Synonymous SNV P328P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.2 275522 chr21 45094550 45094550 G A RRP1B Nonsynonymous SNV V131I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 275523 chr7 121650825 121650825 C T rs145019209 PTPRZ1 Synonymous SNV T575T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 275524 chr11 71952263 71952263 C T PHOX2A Synonymous SNV T96T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.49 275525 chr2 152512781 152512781 A T rs368302286 NEB Nonsynonymous SNV D2127E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.443 275526 chr11 73687960 73687960 T G rs200714465 UCP2 Nonsynonymous SNV Q147P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 275527 chr21 47407425 47407425 G A rs145849970 COL6A1 Nonsynonymous SNV E251K 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 275528 chr2 158594124 158594124 G A rs372468278 ACVR1 Synonymous SNV S483S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.18 275529 chr7 130023280 130023280 - T CPA1 Frameshift insertion H179Pfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 275530 chr12 120295498 120295498 G A rs139308004 CIT Synonymous SNV S81S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.55 275531 chr11 75111743 75111743 C T RPS3 Synonymous SNV V12V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 275532 chr12 120593157 120593157 G A rs200284000 GCN1 Nonsynonymous SNV A1173V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 275533 chr12 120602242 120602242 C A rs372293974 GCN1 Nonsynonymous SNV R582S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 275534 chr13 41133891 41133891 G A rs45491494 FOXO1 Synonymous SNV S579S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.771 275535 chr13 41706147 41706147 A G rs145612805 KBTBD6 Synonymous SNV R167R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 275536 chr12 121469259 121469259 G A rs138052394 OASL Nonsynonymous SNV H215Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 275537 chr13 48611918 48611918 - GGAGTC rs869320766 NUDT15 V18_V19insGV 0.001 0.003 0 0 1 1 0 0 0 0 0 0 275538 chr11 78380115 78380115 G A rs766780871 TENM4 Synonymous SNV A2425A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.097 275539 chr11 78467884 78467884 G A TENM4 Nonsynonymous SNV H908Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 275540 chr7 141921461 141921461 A T rs114133571 MGAM2 Nonsynonymous SNV I2384F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 11.53 275541 chr13 61985553 61985553 C T rs987767339 PCDH20 Synonymous SNV L893L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.674 275542 chr7 142651032 142651032 G A rs139319150 KEL Synonymous SNV P312P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 275543 chr22 28379522 28379522 T C rs752587750 TTC28 Nonsynonymous SNV T2045A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 275544 chr7 143080358 143080358 G T rs140225548 ZYX Nonsynonymous SNV K291N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 275545 chr13 78192153 78192153 A G rs145663548 SCEL Nonsynonymous SNV N487S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.615 275546 chr12 129569092 129569092 G A rs528294635 TMEM132D Synonymous SNV T533T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.522 275547 chr22 23438224 23438224 T G rs140611510 GNAZ Synonymous SNV A114A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 275548 chr2 179441341 179441341 G A rs777602537 TTN Synonymous SNV Y14145Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.525 275549 chr13 103382387 103382387 G A rs183474409 CCDC168 Nonsynonymous SNV A6887V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.098 275550 chr7 150034479 150034479 C T rs183507482 LRRC61 Stop gain R177X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 275551 chr13 103393204 103393204 C G rs189248280 CCDC168 Nonsynonymous SNV K3281N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.068 275552 chr12 100795565 100795565 A C rs748076639 SLC17A8 Synonymous SNV A229A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.531 275553 chr7 150652527 150652527 C T rs780068180 KCNH2 Nonsynonymous SNV R22Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.92 275554 chr13 103514786 103514786 T G BIVM-ERCC5, ERCC5 Nonsynonymous SNV D429E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 275555 chr2 179640464 179640464 T C rs977671605 TTN Nonsynonymous SNV K1997E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 275556 chr7 150920882 150920882 C T rs745724501 ABCF2, LOC114483834 Nonsynonymous SNV D202N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 275557 chr13 113478666 113478666 A G ATP11A Nonsynonymous SNV I267V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.039 275558 chr13 113740554 113740554 C T rs137978862 MCF2L Synonymous SNV T750T 0.003 0.005 0.003 0 4 2 0 1 0 0 0 0 13.6 275559 chr13 114434276 114434276 T C rs762651951 GRK1 Nonsynonymous SNV M385T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 275560 chr13 114188576 114188576 T A TMCO3 Synonymous SNV V520V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.825 275561 chr12 109096631 109096631 G A rs781678078 CORO1C Nonsynonymous SNV S32L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 275562 chr13 36871782 36871782 G T rs201215750 CCDC169 Synonymous SNV V25V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 6.544 275563 chr12 110834114 110834114 A G ANAPC7 Nonsynonymous SNV V116A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 275564 chr8 6590160 6590160 G A rs139524305 AGPAT5 Nonsynonymous SNV A162T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.922 275565 chr2 192711232 192711232 C T rs754399494 CAVIN2 Synonymous SNV K140K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 275566 chr8 8234730 8234730 G T rs372467266 PRAG1 Nonsynonymous SNV P397T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.618 275567 chr12 112110516 112110516 G A rs777542152 BRAP Synonymous SNV D232D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 275568 chr12 112451398 112451398 G - rs763539207 ERP29 V44Sfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 275569 chr12 113623158 113623158 G A DDX54 Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.479 275570 chr11 57115697 57115697 A G rs376233059 P2RX3 Nonsynonymous SNV I149V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.8 275571 chr12 120652000 120652000 G A PXN Synonymous SNV D447D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 275572 chr2 206023512 206023512 C T rs199503082 PARD3B Synonymous SNV L501L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 275573 chr2 207625656 207625656 T C rs139076544 MDH1B Nonsynonymous SNV H35R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 275574 chr12 121958816 121958816 C T rs200863982 KDM2B Nonsynonymous SNV R309Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 275575 chr14 23993530 23993530 C T rs757438843 ZFHX2 Nonsynonymous SNV R1874H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275576 chr12 122687960 122687960 G A rs200712850 LRRC43 Nonsynonymous SNV E648K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 275577 chr14 24843061 24843061 C G rs774413775 NFATC4 Nonsynonymous SNV P574A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 275578 chr12 122691199 122691199 G C rs182526849 B3GNT4 Nonsynonymous SNV R109P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 275579 chr2 233756165 233756165 G A rs377471982 NGEF Nonsynonymous SNV A300V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.55 275580 chr12 124497105 124497105 C T rs117836072 ZNF664 Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 275581 chr2 21232125 21232125 C T rs148170480 APOB Nonsynonymous SNV V2539I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.955 275582 chr22 45740492 45740492 T C SMC1B Nonsynonymous SNV Q1144R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.69 275583 chr12 129181836 129181836 C T rs372551458 TMEM132C Nonsynonymous SNV S666L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 275584 chr2 10585063 10585063 A C rs776281486 ODC1 Synonymous SNV S32S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.875 275585 chr22 47064052 47064052 C T rs139953287 GRAMD4 Synonymous SNV A332A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.906 275586 chr11 62554916 62554916 T C rs747484225 TMEM179B Nonsynonymous SNV W5R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 275587 chr8 27168648 27168648 G C rs776598486 TRIM35 Synonymous SNV R35R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.734 275588 chr12 132549254 132549254 C T rs139518186 EP400 Synonymous SNV P2792P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 13.36 275589 chr14 50788240 50788240 G A rs201427439 DMAC2L Nonsynonymous SNV C12Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 275590 chr8 32616842 32616842 G A rs369756255 NRG1 Nonsynonymous SNV V163I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 275591 chr8 37555933 37555933 - CGC ZNF703 A514_S515insA 0.001 0 0 0 1 0 0 0 0 0 0 0 275592 chr8 37794845 37794845 C T rs202201309 GOT1L1 Nonsynonymous SNV D157N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 275593 chr14 20848533 20848533 G A rs545484986 TEP1 Nonsynonymous SNV R1514W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 275594 chr14 57700598 57700598 C T rs376504351 EXOC5 Nonsynonymous SNV A240T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 24.7 275595 chr8 41507949 41507949 C T rs28412445 NKX6-3 Synonymous SNV E21E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 275596 chr8 41550211 41550211 C T rs16890758 ANK1 Synonymous SNV E1271E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.06 275597 chr8 41583402 41583402 G A rs34173100 ANK1 Synonymous SNV L163L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.39 275598 chr8 42037815 42037815 G T rs8178781 PLAT Synonymous SNV V300V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.183 275599 chr8 42039483 42039483 C T rs8178777 PLAT Synonymous SNV T198T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.98 275600 chr8 42294776 42294776 G A rs115234947 SLC20A2 Synonymous SNV G418G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.343 275601 chr8 42295019 42295019 G T rs116359869 SLC20A2 Synonymous SNV T337T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.257 275602 chr8 48883390 48883390 C T rs759056835 MCM4 Nonsynonymous SNV S585L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 275603 chr12 26748470 26748470 C T rs748673722 ITPR2 Synonymous SNV V1436V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 275604 chr8 57353852 57353852 G A rs34189005 PENK Synonymous SNV Y261Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.798 275605 chr8 57353906 57353906 G A rs35794206 PENK Synonymous SNV S243S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.382 275606 chr8 61178592 61178592 T C rs73685412 CA8 Synonymous SNV P103P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 9.498 275607 chr14 23242904 23242904 T C rs773635994 SLC7A7 Nonsynonymous SNV Q484R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 275608 chr2 113067491 113067491 A G ZC3H6 Synonymous SNV T122T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.807 275609 chr14 23467783 23467783 G A rs756043897 C14orf93 Synonymous SNV S150S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 275610 chr8 70517161 70517161 G A rs112123068 SULF1 Synonymous SNV P457P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.575 275611 chr8 70667702 70667702 C T rs34295070 SLCO5A1 Synonymous SNV A405A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.12 275612 chr12 3728508 3728508 G A CRACR2A Synonymous SNV L655L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 275613 chr8 81571850 81571850 T C rs143491885 ZNF704 Synonymous SNV Q334Q 0.002 0 0 0 2 0 0 0 0 0 0 0 3.705 275614 chr8 82598021 82598021 C T rs369155756 IMPA1 Nonsynonymous SNV V44I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 275615 chr12 48376369 48376369 G A rs772421531 COL2A1 Synonymous SNV P670P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 275616 chr12 48524193 48524193 G A rs569646523 PFKM Nonsynonymous SNV G45S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 275617 chr8 96057830 96057830 G A NDUFAF6 Nonsynonymous SNV E68K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275618 chr14 94780400 94780400 C T rs747671539 SERPINA6 Nonsynonymous SNV V196I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.314 275619 chr14 75538285 75538285 A G ZC2HC1C Nonsynonymous SNV K337E 0.002 0 0 0 2 0 0 0 0 0 0 0 18.39 275620 chr12 50188669 50188669 G A rs755512453 NCKAP5L Nonsynonymous SNV R992W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 275621 chr14 77275487 77275487 C T rs765107857 ANGEL1 Synonymous SNV E188E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 275622 chr14 33147544 33147544 G A rs372455705 AKAP6 Nonsynonymous SNV A920T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 275623 chr12 50304574 50304574 G A rs2298640 LINC02396 0 0 0.003 0 0 0 0 1 0 0 0 0 4.72 275624 chr8 105393468 105393471 TTTT - rs538231044 DPYS E507Mfs*57 0.001 0 0 0 1 0 0 0 0 0 0 0 275625 chr8 109796788 109796788 G A rs112714104 TMEM74 Synonymous SNV S180S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 275626 chr2 167760249 167760249 A C rs200881042 XIRP2 Nonsynonymous SNV N86T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 275627 chr12 51511457 51511457 C T rs143345508 TFCP2 Synonymous SNV V116V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 275628 chr2 137990517 137990517 G A THSD7B Nonsynonymous SNV C655Y 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.2 275629 chr8 117864867 117864867 A C rs75160167 RAD21 Nonsynonymous SNV D414E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.87 275630 chr12 52285053 52285053 G C ANKRD33 Nonsynonymous SNV E181Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 275631 chr12 52715060 52715060 G C KRT83 Synonymous SNV V20V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.301 275632 chr12 52756695 52756695 G A rs143063799 KRT85 Synonymous SNV N128N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 275633 chr14 91701128 91701128 G A rs775540480 GPR68 Synonymous SNV H89H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.195 275634 chr8 124371522 124371522 T C rs201462061 ATAD2 Nonsynonymous SNV M441V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 275635 chr12 53040712 53040712 G A rs143712313 KRT2 Synonymous SNV A427A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.54 275636 chr14 88952168 88952168 T C rs150040997 PTPN21 Synonymous SNV T317T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.03 275637 chr2 179315159 179315159 T G PRKRA Synonymous SNV T4T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 275638 chr14 91119219 91119219 C T rs149047084 TTC7B Nonsynonymous SNV V495I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 275639 chr14 94914863 94914863 G C rs771654228 SERPINA11 Synonymous SNV T83T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 275640 chr12 53663433 53663433 G C rs113504178 ESPL1 Nonsynonymous SNV R236T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 275641 chr14 95056443 95056443 A G rs144652298 SERPINA5 Nonsynonymous SNV T229A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.307 275642 chr12 55523754 55523754 G A OR9K2 Nonsynonymous SNV V68I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.38 275643 chr11 102991310 102991310 G A DYNC2H1 Synonymous SNV E378E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 275644 chr14 61788913 61788913 T C rs1054017071 PRKCH Nonsynonymous SNV S32P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 275645 chr8 139165337 139165337 C A FAM135B Nonsynonymous SNV V461F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.784 275646 chr8 139736859 139736859 G A rs370563319 COL22A1 Nonsynonymous SNV T749M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.134 275647 chr2 168114567 168114567 C T rs62197395 XIRP2 Nonsynonymous SNV T282I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 0.047 275648 chr12 64854016 64854016 C T rs11538420 TBK1 Synonymous SNV F45F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 14.1 275649 chr2 42281439 42281439 T C rs371967754 PKDCC Synonymous SNV N342N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.409 275650 chr14 74422603 74422603 T C rs757927318 COQ6 Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.027 275651 chr15 33822815 33822815 G A rs751132721 RYR3 Nonsynonymous SNV R101K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 275652 chr15 33876623 33876623 A C RYR3 Nonsynonymous SNV N534T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 275653 chr8 145689665 145689665 C A rs139843668 CYHR1 Nonsynonymous SNV G142W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 275654 chr8 145736215 145736215 G A rs137908154 MFSD3 Nonsynonymous SNV G332R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 275655 chr8 145739881 145739881 G A rs764297840 RECQL4 Nonsynonymous SNV A550V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 275656 chr12 81010019 81010019 C T rs781600182 PTPRQ Nonsynonymous SNV P1563L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 275657 chr2 19553394 19553394 C T rs755540358 OSR1 Nonsynonymous SNV G58D 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 275658 chr14 94849061 94849061 C A rs112030253 SERPINA1 Nonsynonymous SNV G172W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 275659 chr9 1051932 1051932 C G rs1025050036 DMRT2 Nonsynonymous SNV P107A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 275660 chr12 95922764 95922764 T C rs145220201 USP44 Synonymous SNV A481A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.675 275661 chr9 8484190 8484190 G A rs61733195 PTPRD Synonymous SNV F693F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.97 275662 chr9 8484240 8484240 T G rs12344148 PTPRD Synonymous SNV R677R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.839 275663 chr14 100847925 100847925 C T WDR25 Stop gain Q222X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 275664 chr13 103339308 103339308 T A rs146196219 METTL21C Nonsynonymous SNV I128F 0 0 0.003 0 0 0 0 1 0 0 0 0 30 275665 chr14 104645057 104645057 C T rs200460079 KIF26A Nonsynonymous SNV R1761W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 275666 chr2 207824466 207824466 - T rs780098610 CPO 0 0 0 1 0 0 0.003 0 0 0 0 0 275667 chr15 50534789 50534789 A G rs16963486 HDC Nonsynonymous SNV F520L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24 275668 chr15 72196330 72196330 G A rs375628589 MYO9A Synonymous SNV T939T 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 15.04 275669 chr15 49088322 49088322 T - CEP152 Stop gain V193* 0 0.003 0 0 0 1 0 0 0 0 0 0 275670 chr15 52427943 52427943 G A rs34637551 GNB5 Nonsynonymous SNV A171V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 28 275671 chr13 113622432 113622432 C T rs3011469 MCF2L-AS1 0 0 0.02 0 0 0 0 6 0 0 3 0 0.966 275672 chr3 124774562 124774562 C T rs529372807 HEG1 Nonsynonymous SNV R58H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 275673 chr13 21751360 21751360 C G rs146280426 MRPL57 Nonsynonymous SNV S102C 0 0 0.007 0 0 0 0 2 0 0 0 0 25 275674 chr15 56387634 56387634 G C rs376497617 RFX7 Synonymous SNV V667V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.262 275675 chr15 31727659 31727659 C A rs183988197 KLF13 Nonsynonymous SNV L222I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.527 275676 chr13 23910094 23910094 C G SACS Nonsynonymous SNV G2494R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 275677 chr9 38397006 38397006 G A rs572905510 ALDH1B1 Nonsynonymous SNV V421M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 275678 chr15 34034573 34034573 C G rs149242033 RYR3 Synonymous SNV S2609S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.92 275679 chr13 25745383 25745383 G C rs530950980 AMER2 Synonymous SNV G125G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.992 275680 chr15 62148571 62148571 G C rs765578677 VPS13C Nonsynonymous SNV L3621V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 275681 chr3 111842452 111842452 T C rs142162274 GCSAM Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.169 275682 chr15 64041986 64041986 T C rs751013810 HERC1 Nonsynonymous SNV Y636C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 275683 chr2 219694933 219694933 T G PRKAG3 Nonsynonymous SNV E134A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.895 275684 chr15 64428533 64428533 A C rs549703675 SNX1 Nonsynonymous SNV E392A 0.001 0 0 0 1 0 0 0 0 0 0 0 31 275685 chr15 64698576 64698576 C T rs1007007935 TRIP4 Nonsynonymous SNV P19S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 275686 chr13 37581181 37581181 T C rs141396717 EXOSC8 Nonsynonymous SNV F154L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 275687 chr9 79898509 79898509 C T rs372019796 VPS13A Synonymous SNV N1055N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.31 275688 chr3 113955645 113955645 C T rs184763581 ZNF80 Nonsynonymous SNV V93I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275689 chr15 65918060 65918060 C T rs761148442 SLC24A1 Stop gain R548X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 275690 chr15 42137223 42137223 C T rs144031352 JMJD7-PLA2G4B, PLA2G4B Synonymous SNV F398F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 275691 chr2 223499137 223499137 T C rs746559659 FARSB Synonymous SNV T193T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.4 275692 chr13 49076911 49076911 C T rs764246595 RCBTB2 Nonsynonymous SNV V82M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 275693 chr15 71184250 71184250 G C THAP10 Nonsynonymous SNV S121C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.394 275694 chr15 75132021 75132021 G A rs201900987 ULK3 Nonsynonymous SNV R244W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 275695 chr15 43585746 43585746 G C rs549292415 TGM7 Nonsynonymous SNV R32G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 275696 chr15 43621703 43621703 A G rs200311619 LCMT2 Nonsynonymous SNV F329L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 275697 chr15 74865218 74865218 T C rs748920116 ARID3B Nonsynonymous SNV W190R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 27.6 275698 chr15 44876183 44876183 G A rs748177028 SPG11 Nonsynonymous SNV R1899W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 275699 chr15 75653695 75653695 C G MAN2C1 Nonsynonymous SNV D317H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 28.4 275700 chr15 76136138 76136138 G A rs746754829 UBE2Q2 Nonsynonymous SNV G44D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.75 275701 chr15 76136158 76136158 C T UBE2Q2 Nonsynonymous SNV P51S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 275702 chr3 125032396 125032396 C T ZNF148 Nonsynonymous SNV G30D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 275703 chr13 99852960 99852960 T G rs115307678 UBAC2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 275704 chr9 107564404 107564404 T A ABCA1 Nonsynonymous SNV Q1543H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 275705 chr2 234247389 234247389 A C SAG Nonsynonymous SNV T338P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.2 275706 chr9 111849488 111849488 C T rs749720594 TMEM245 Nonsynonymous SNV G429R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275707 chr14 101349792 101349792 T C rs555778437 RTL1 Nonsynonymous SNV E445G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 275708 chr15 83932837 83932837 A G BNC1 Nonsynonymous SNV I382T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 275709 chr15 82335892 82335892 C T MEX3B Nonsynonymous SNV R440H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 275710 chr12 45782006 45782006 G A rs768557180 ANO6 Nonsynonymous SNV V410I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 275711 chr3 130119993 130119993 G A COL6A5 Synonymous SNV L1370L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.057 275712 chr14 104038028 104038028 C T rs200801272 COA8 Synonymous SNV N64N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 275713 chr15 58840659 58840659 C G LIPC Nonsynonymous SNV C313W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 275714 chr9 116931470 116931470 C T rs552089615 COL27A1 Synonymous SNV A545A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 275715 chr2 239162134 239162134 C T rs138292908 PER2 Nonsynonymous SNV V844M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.936 275716 chr9 117379485 117379485 G A rs147073169 TMEM268 Nonsynonymous SNV E4K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 275717 chr9 117853005 117853005 A G TNC Nonsynonymous SNV I98T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 275718 chr14 20502910 20502910 C G OR4K13 Nonsynonymous SNV R3T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 275719 chr16 778597 778597 C A rs201679437 HAGHL Nonsynonymous SNV P164H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 275720 chr16 784870 784870 C A rs895059356 CIAO3 Synonymous SNV G147G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 275721 chr3 139297786 139297786 G A NMNAT3 Nonsynonymous SNV T74I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 275722 chr15 72039282 72039282 G A rs373690717 THSD4 Synonymous SNV V354V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 275723 chr15 77287792 77287792 G A rs771172891 PSTPIP1 Nonsynonymous SNV A25T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 275724 chr15 100533382 100533382 C T rs773066922 ADAMTS17 Synonymous SNV G940G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.732 275725 chr16 1270213 1270213 C T rs371550084 CACNA1H Nonsynonymous SNV S2088L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 275726 chr14 24709340 24709340 C T rs771022492 TINF2 Nonsynonymous SNV S349N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 275727 chr14 24771312 24771312 G A NOP9 Nonsynonymous SNV S317N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 275728 chr14 24773470 24773470 T A rs751206496 NOP9 Nonsynonymous SNV L545Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 275729 chr2 61622125 61622125 G A USP34 Nonsynonymous SNV P206S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 275730 chr2 30966407 30966407 C T rs752920214 CAPN13 Synonymous SNV S429S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 10.93 275731 chr3 169802757 169802757 A G rs747932437 GPR160 Nonsynonymous SNV I333V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275732 chr12 54798522 54798522 C T rs376218631 ITGA5 Nonsynonymous SNV R461Q 0.003 0 0 0 4 0 0 0 0 0 0 0 35 275733 chr14 30069008 30069008 C T rs149460336 PRKD1 Nonsynonymous SNV G641S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 275734 chr12 56486584 56486584 G A rs570637025 ERBB3 Nonsynonymous SNV R388Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 275735 chr12 56638485 56638485 G A ANKRD52 Synonymous SNV G891G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 275736 chr14 45645917 45645917 G A rs745456931 FANCM Synonymous SNV L1294L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.614 275737 chr16 1265077 1265077 G A rs60087479 CACNA1H Nonsynonymous SNV D1673N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 275738 chr16 3713529 3713529 G C rs77440336 TRAP1 Nonsynonymous SNV T482S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.8 275739 chr2 84848338 84848338 G A rs747823277 DNAH6 Synonymous SNV K1272K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.21 275740 chr12 66773135 66773135 A C GRIP1 Nonsynonymous SNV V797G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.924 275741 chr9 139229114 139229165 CCTGCTGGCGCGGTGAGTGGGGACGGTCCTGCTGGCGGGTGAGTGGGGCGGC - GPSM1 L94_R97del 0.001 0 0 0 1 0 0 0 0 0 0 0 275742 chr16 2138602 2138602 G C TSC2 Nonsynonymous SNV E1561D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.385 275743 chr16 2142103 2142103 C G rs147992238 PKD1 Nonsynonymous SNV E3785Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.298 275744 chr16 2239123 2239123 C T rs201286402 CASKIN1 Synonymous SNV A174A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.14 275745 chr16 2546610 2546610 A G TBC1D24 Nonsynonymous SNV K154R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 275746 chr9 139333839 139333839 G C rs79161998 INPP5E Synonymous SNV S11S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.754 275747 chr9 139336261 139336261 G A rs45568431 SEC16A Synonymous SNV S2317S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.011 275748 chr16 2814572 2814572 C T rs549292154 SRRM2 Nonsynonymous SNV S1348F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 275749 chr16 5122022 5122022 A G rs1006998599 ALG1 Nonsynonymous SNV M58V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.659 275750 chr9 139369200 139369200 A G rs6560631 SEC16A Synonymous SNV N956N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.114 275751 chr9 139371106 139371106 G A rs41306736 SEC16A Nonsynonymous SNV P321L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.34 275752 chr16 2880797 2880797 G A rs768300994 ZG16B Nonsynonymous SNV S88N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 275753 chr9 139417333 139417333 G A rs61751557 NOTCH1 Synonymous SNV G237G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.477 275754 chr3 193272594 193272594 A C rs760564927 ATP13A4-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 0.164 275755 chr14 62462982 62462982 A T rs187759108 SYT16 Nonsynonymous SNV N82I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 275756 chr12 80615884 80615884 C T OTOGL Synonymous SNV G107G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 275757 chr16 12155393 12155393 - ACACCTACCTCTCCC rs769794609 SNX29 E378_G379insHLPLP 0.001 0 0 0 1 0 0 0 0 0 0 0 275758 chr16 12155395 12155395 - AGAGA rs777622014 SNX29 Frameshift insertion G379Efs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 275759 chr16 12155411 12155414 CCCA - rs749082406 SNX29 Stop gain S384* 0.001 0 0 0 1 0 0 0 0 0 0 0 275760 chr16 12155414 12155414 - GG rs770701403 SNX29 Frameshift insertion M386Gfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 275761 chr9 140006645 140006645 G A DPP7 Synonymous SNV Y323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.427 275762 chr9 140063738 140063738 G A rs145347572 LRRC26 Nonsynonymous SNV P220S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 275763 chr9 140146484 140146484 C T rs747119528 STPG3 Synonymous SNV D100D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.591 275764 chr16 4861723 4861723 G A GLYR1 Synonymous SNV L368L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.076 275765 chr16 19726231 19726231 G A rs199759863 KNOP1 Nonsynonymous SNV P43S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.323 275766 chr9 140446545 140446545 G T MRPL41 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.331 275767 chr16 11362779 11362779 T C rs201125198 TNP2 Nonsynonymous SNV K114R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 275768 chr16 11362805 11362805 G A rs200686074 TNP2 Synonymous SNV N105N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.159 275769 chr16 23464287 23464287 T C COG7 Nonsynonymous SNV D10G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 275770 chr10 5138703 5138703 A G rs61730878 AKR1C3 Synonymous SNV G62G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.023 275771 chr16 720494 720494 C G RHOT2 Nonsynonymous SNV F141L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 275772 chr10 5683827 5683827 G A rs17142291 ASB13 Synonymous SNV G205G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 275773 chr16 15528603 15528603 G C rs3743523 BMERB1 Nonsynonymous SNV E31D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.48 275774 chr16 15716877 15716877 C T rs958435518 MARF1 Nonsynonymous SNV D792N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 275775 chr14 77908936 77908936 A G rs756090677 VIPAS39 Nonsynonymous SNV I185T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 275776 chr10 7618509 7618509 G A rs34213756 ITIH5 Nonsynonymous SNV R415C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 275777 chr14 78140212 78140212 G T rs750075533 ALKBH1 Stop gain C371X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 275778 chr10 11569519 11569519 T C rs767565711 USP6NL Nonsynonymous SNV I35V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 275779 chr16 29818946 29818946 C T rs370239621 MAZ Synonymous SNV A280A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 275780 chr2 96952838 96952838 G A rs991388723 SNRNP200 Nonsynonymous SNV P1182L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 275781 chr2 97020114 97020114 T C rs991608526 NCAPH Nonsynonymous SNV V263A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.349 275782 chr10 17195560 17195560 G T rs151176125 TRDMT1 Synonymous SNV R260R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.5 275783 chr14 93424613 93424613 G A rs61729872 ITPK1 Synonymous SNV F82F 0 0 0.007 0 0 0 0 2 0 0 0 0 14.48 275784 chr14 93652634 93652634 G A rs779278309 TMEM251 Nonsynonymous SNV R37H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 275785 chr3 100025309 100025309 T C rs369101125 TBC1D23 Synonymous SNV N445N 0 0 0 1 0 0 0.003 0 0 0 0 0 8.101 275786 chr10 26513468 26513468 G A rs61735922 GAD2 Nonsynonymous SNV M204I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 275787 chr16 3647391 3647391 G A rs372264472 SLX4 Nonsynonymous SNV R558W 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 275788 chr16 4727522 4727522 C G rs375465698 MGRN1 Synonymous SNV P338P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.298 275789 chr15 25277617 25277617 T C rs185948428 PWAR6 0 0 0.007 0 0 0 0 2 0 0 0 0 2.715 275790 chr16 58538272 58538272 C A rs768982466 NDRG4 Nonsynonymous SNV F104L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 275791 chr3 46563135 46563135 T C rs761967471 LRRC2 Nonsynonymous SNV M315V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.235 275792 chr3 126915780 126915780 T C rs367850707 C3orf56 Synonymous SNV G84G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 275793 chr3 47045863 47045863 C T rs547933637 NBEAL2 Nonsynonymous SNV R2026C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 275794 chr3 48463832 48463832 A C rs139956646 PLXNB1 Nonsynonymous SNV S443A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.25 275795 chr15 31619442 31619442 C T rs77996726 KLF13 Synonymous SNV H9H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 10.94 275796 chr3 52084894 52084894 C T rs774622489 DUSP7 Synonymous SNV Q399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.532 275797 chr16 70285227 70285227 G T rs138696758 EXOSC6 Nonsynonymous SNV P193T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 275798 chr16 70303659 70303659 C T rs11537667 AARS1 Nonsynonymous SNV G275D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 275799 chr16 70349725 70349725 T C rs57279408 LOC100506083 0.001 0 0 0 1 0 0 0 0 0 0 0 1.777 275800 chr16 66759803 66759803 G A rs143707837 DYNC1LI2 Synonymous SNV L359L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 275801 chr16 70349818 70349818 G A rs16970609 LOC100506083 0.001 0 0 0 1 0 0 0 0 0 0 0 2.896 275802 chr16 70351429 70351429 C G rs7195567 DDX19B Synonymous SNV A114A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 275803 chr16 70497581 70497581 C A rs60470914 FCSK Synonymous SNV A46A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 275804 chr16 70500070 70500070 T C rs17880268 FCSK Synonymous SNV A107A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 275805 chr16 21008719 21008719 A G DNAH3 Nonsynonymous SNV W2117R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 275806 chr16 70601423 70601423 G A SF3B3 Nonsynonymous SNV R979Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 275807 chr16 70697675 70697675 C T rs185388519 MTSS2 Nonsynonymous SNV D717N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 275808 chr16 70698011 70698011 T G rs79838157 MTSS2 Nonsynonymous SNV M605L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275809 chr16 70814787 70814787 G A rs16970545 VAC14 Synonymous SNV P100P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.356 275810 chr16 22134971 22134971 G A rs201654615 VWA3A Nonsynonymous SNV R492Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 275811 chr16 70818733 70818733 G A rs60817340 VAC14 Synonymous SNV A144A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.14 275812 chr16 70834756 70834756 G A rs61747638 VAC14 Synonymous SNV R16R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.63 275813 chr16 71604284 71604284 A G rs143213566 TAT Nonsynonymous SNV V310A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.109 275814 chr16 27374719 27374719 G A rs144093259 IL4R Synonymous SNV P682P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.511 275815 chr13 25889526 25889526 G A NUP58 Synonymous SNV L190L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 275816 chr10 69648653 69648653 T C rs148700975 SIRT1 Synonymous SNV F187F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.214 275817 chr16 88496323 88496323 C T ZNF469 Synonymous SNV G815G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.938 275818 chr13 28610153 28610153 G A rs201256911 FLT3 Nonsynonymous SNV S446L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 275819 chr3 151107869 151107869 G A rs201426495 MED12L Nonsynonymous SNV V1817M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.422 275820 chr16 76569584 76569584 G A rs371905330 CNTNAP4 Synonymous SNV G837G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.55 275821 chr4 126355523 126355523 C T FAT4 Nonsynonymous SNV T2381I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 275822 chr15 55612598 55612598 A G rs778370997 PIGB Nonsynonymous SNV M97V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 275823 chr10 72293732 72293732 G A rs61738654 PALD1 Nonsynonymous SNV V309I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.6 275824 chr13 35733795 35733795 T C rs372429433 NBEA Nonsynonymous SNV S1163P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 275825 chr10 72360648 72360648 C T rs35418374 PRF1 Nonsynonymous SNV R4H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 19.06 275826 chr10 72500824 72500824 C T rs75615682 ADAMTS14 Synonymous SNV Y610Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 275827 chr16 84215234 84215234 C T rs4150147 TAF1C Nonsynonymous SNV R25H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 275828 chr3 132405129 132405129 G C rs779376432 NPHP3 Nonsynonymous SNV L1102V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 275829 chr15 56155265 56155265 C T rs546489584 NEDD4 Nonsynonymous SNV V521I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 275830 chr3 133356911 133356911 C T rs757144348 TOPBP1 Nonsynonymous SNV V772I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.917 275831 chr10 73375337 73375337 C T rs201884566 CDH23 Synonymous SNV N303N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 275832 chr10 73377027 73377027 G T rs201783407 CDH23 Synonymous SNV L337L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.197 275833 chr10 73499524 73499524 C T rs756850841 CDH23 Nonsynonymous SNV L1495F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 275834 chr10 73558958 73558958 G A rs759439688 CDH23 Nonsynonymous SNV R142Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.6 275835 chr10 73826775 73826775 G A rs7079142 SPOCK2 Synonymous SNV A271A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.196 275836 chr10 73973016 73973016 C T rs765691174 ASCC1 Nonsynonymous SNV R14Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 275837 chr13 45602088 45602088 A G rs765851352 GPALPP1 Nonsynonymous SNV R325G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 275838 chr10 74658606 74658606 C G rs138509231 OIT3 Synonymous SNV T82T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.902 275839 chr15 62233976 62233976 C A VPS13C Nonsynonymous SNV Q1770H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 275840 chr15 62538584 62538604 GCTCCAGTAGCCTCTCCTCTT - GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 275841 chr15 63340316 63340316 A - rs201173447 TPM1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 275842 chr13 46627896 46627896 A G rs375169347 CPB2 Synonymous SNV D338D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.388 275843 chr13 46946423 46946423 G A rs763601167 RUBCNL Nonsynonymous SNV P63L 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.116 275844 chr10 76867907 76867907 G A rs369529608 DUSP13 Synonymous SNV A70A 0.001 0 0 0 1 0 0 0 0 0 0 0 20 275845 chr10 77795856 77795856 A G rs112676064 LRMDA Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.315 275846 chr10 79553815 79553815 C T rs1058199 DLG5 Synonymous SNV Q1869Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.33 275847 chr10 79566684 79566684 G A rs4979794 DLG5 Nonsynonymous SNV A1600V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.2 275848 chr15 65425625 65425625 C G rs564400796 PDCD7 Synonymous SNV T165T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.924 275849 chr10 79759775 79759775 G A rs77055595 POLR3A Synonymous SNV D860D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.1 275850 chr10 81317836 81317836 G A rs147679203 SFTPA2 Synonymous SNV F124F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.937 275851 chr16 88594577 88594577 G A ZFPM1 Nonsynonymous SNV A215T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 275852 chr16 88776675 88776675 C T CTU2 Synonymous SNV V2V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 275853 chr16 66436611 66436611 G T rs759015093 CDH5 Nonsynonymous SNV G632C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 275854 chr16 88788318 88788318 G A rs374215951 PIEZO1 Synonymous SNV S1704S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.243 275855 chr16 67671697 67671697 G A CTCF Synonymous SNV E374E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.115 275856 chr10 88277479 88277479 A G rs34053295 WAPL Synonymous SNV N116N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.376 275857 chr10 88419061 88419061 C T rs140255728 OPN4 Synonymous SNV Y212Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.021 275858 chr10 88439895 88439895 C T rs45592139 LDB3 Nonsynonymous SNV P101L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26.7 275859 chr10 88672084 88672084 A G rs55992440 BMPR1A Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.947 275860 chr16 69776397 69776397 G A NOB1 Synonymous SNV T359T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 275861 chr10 89717695 89717695 C T rs190070312 PTEN Synonymous SNV Y240Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.252 275862 chr10 90122388 90122388 A T rs116376263 RNLS Nonsynonymous SNV D207E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.1 275863 chr10 90122468 90122468 G T rs78525460 RNLS Nonsynonymous SNV Q181K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.61 275864 chr16 88804824 88804824 G A PIEZO1 Nonsynonymous SNV S220F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 275865 chr10 90356670 90356670 T C rs75768318 LIPJ Nonsynonymous SNV Y234H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 275866 chr10 90580145 90580145 G A rs367563021 LIPM Nonsynonymous SNV V387M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 275867 chr3 151163829 151163829 T C IGSF10 Nonsynonymous SNV T1314A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 275868 chr16 70731101 70731101 C T rs146202088 VAC14 Synonymous SNV T398T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.25 275869 chr16 89661931 89661931 G A rs199914495 CPNE7 Nonsynonymous SNV D487N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 275870 chr10 95076542 95076542 T G rs191713681 MYOF Nonsynonymous SNV E1863A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 275871 chr10 95088653 95088653 G C rs34731189 MYOF Synonymous SNV T1653T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.958 275872 chr10 95093631 95093631 C T rs34676128 MYOF Nonsynonymous SNV V1522M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 275873 chr10 97607266 97607266 G A rs3793744 ENTPD1 Nonsynonymous SNV V155I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.043 275874 chr4 144135575 144135575 C T rs376757488 USP38 Nonsynonymous SNV L816F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.536 275875 chr10 99350103 99350103 T C rs76383275 C10orf62 Nonsynonymous SNV I150T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 275876 chr17 2201202 2201202 C A SMG6 Nonsynonymous SNV E665D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 275877 chr10 101190217 101190217 G A GOT1 Synonymous SNV L36L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 275878 chr10 101595975 101595975 G T rs8187692 ABCC2 Nonsynonymous SNV R1181L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign/Likely benign 31 275879 chr10 101646357 101646357 G A rs35277675 DNMBP Synonymous SNV P738P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.74 275880 chr4 160243503 160243503 A G rs746927565 RAPGEF2 Synonymous SNV Q125Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.757 275881 chr16 88497367 88497367 G C ZNF469 Synonymous SNV P1163P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.303 275882 chr15 91185234 91185234 C T rs772940186 CRTC3 Synonymous SNV N573N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.706 275883 chr15 91428482 91428482 C T rs563480688 FES Synonymous SNV I69I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.591 275884 chr10 105215071 105215071 C T rs114015468 CALHM1 Nonsynonymous SNV G330D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 275885 chr17 4918106 4918106 G A KIF1C Nonsynonymous SNV R547Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.5 275886 chr17 4856365 4856365 G A rs377545954 ENO3 Synonymous SNV E67E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.711 275887 chr16 88789701 88789701 C T rs565293295 PIEZO1 Synonymous SNV A1457A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 19.92 275888 chr17 6380422 6380422 A G rs769498445 PITPNM3 Synonymous SNV L302L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.595 275889 chr10 115374674 115374674 C T rs558441061 NRAP Nonsynonymous SNV R1001Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 275890 chr17 1543811 1543811 C T rs538940940 SCARF1 Nonsynonymous SNV R314Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 275891 chr10 118423453 118423453 T C rs62641726 C10orf82 Synonymous SNV L223L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.131 275892 chr10 120829071 120829071 G C rs61729179 EIF3A Synonymous SNV V279V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 275893 chr17 7480931 7480931 C T rs139789270 EIF4A1 Synonymous SNV T271T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.77 275894 chr17 7719924 7719924 T C rs142284666 DNAH2 Synonymous SNV Y3255Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 275895 chr16 15692831 15692831 C T rs200947981 MARF1 Nonsynonymous SNV V1622I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 275896 chr10 124036327 124036327 C T rs115514164 BTBD16 Nonsynonymous SNV R15W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 275897 chr10 124336097 124336097 T C rs116022842 DMBT1 Nonsynonymous SNV W156R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 275898 chr10 124353101 124353101 G A rs144096112 DMBT1 Synonymous SNV P829P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.287 275899 chr4 3076609 3076609 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 275900 chr4 3144512 3144512 C G rs777886128 HTT Nonsynonymous SNV L989V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 275901 chr10 124402748 124402748 G A rs147761345 DMBT1 Nonsynonymous SNV R1731H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 275902 chr17 7911282 7911282 C T GUCY2D Nonsynonymous SNV R534C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 275903 chr10 124755534 124755534 T C rs200896102 IKZF5 Nonsynonymous SNV I98V 0.002 0 0 0 2 0 0 0 0 0 0 0 22 275904 chr10 124895623 124895623 G A rs377512600 HMX3 Synonymous SNV P19P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.478 275905 chr4 3495124 3495124 C T rs764872565 DOK7 Nonsynonymous SNV P161S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.27 275906 chr3 38138726 38138729 CTGC - rs779923551 DLEC1 C799Tfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 275907 chr14 50190592 50190592 A G rs200340135 KLHDC1 Synonymous SNV R135R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 275908 chr17 9710917 9710917 C - rs766632487 GSG1L2 L172Ffs*2 0.001 0.003 0 0 1 1 0 0 0 0 0 0 275909 chr16 2052542 2052542 G A rs754096165 ZNF598 Synonymous SNV D219D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.412 275910 chr3 38523816 38523816 A T rs762092222 ACVR2B Nonsynonymous SNV K401M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 275911 chr3 38739074 38739074 C T rs769697350 SCN10A Synonymous SNV V1781V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.958 275912 chr4 38933116 38933116 G T rs772991650 FAM114A1 Synonymous SNV V195V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.723 275913 chr10 132915196 132915196 T C TCERG1L Nonsynonymous SNV T421A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.269 275914 chr17 4684108 4684108 G A rs201854269 TM4SF5 Nonsynonymous SNV V68I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.696 275915 chr16 28943326 28943326 C T rs766808956 CD19 Nonsynonymous SNV P2L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 275916 chr17 20907520 20907520 G A rs753832941 USP22 Synonymous SNV S510S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.286 275917 chr17 17701660 17701660 G A rs777865239 RAI1 Nonsynonymous SNV D1800N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 275918 chr11 210627 210627 C A rs34418034 RIC8A Synonymous SNV I261I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 275919 chr16 30934189 30934189 C T rs561462134 FBXL19-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.012 275920 chr11 490525 490525 C T rs151055800 PTDSS2 Synonymous SNV D260D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 275921 chr11 498813 498813 C T rs115935464 RNH1 Synonymous SNV A245A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 275922 chr17 25637150 25637150 T C rs144160675 WSB1 Synonymous SNV S170S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.521 275923 chr16 422113 422113 G A rs148128206 TMEM8A Synonymous SNV A730A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 275924 chr11 624817 624817 C T rs150388299 CDHR5 0.001 0 0 0 1 0 0 0 0 0 0 0 22 275925 chr11 684943 684943 G A rs144498322 DEAF1 Nonsynonymous SNV R229C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.54 275926 chr11 800212 800212 C A rs61751729 PIDD1 Synonymous SNV R731R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 11.03 275927 chr17 29622427 29622427 C T rs143896440 OMG Nonsynonymous SNV R308Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 275928 chr17 27451699 27451699 G A MYO18A Nonsynonymous SNV S336F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 275929 chr17 9631533 9631533 G A rs61729507 USP43 Synonymous SNV P861P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.839 275930 chr17 9760754 9760754 C T rs114514574 GLP2R Nonsynonymous SNV T209M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275931 chr16 54279487 54279487 A G LINC02169 0 0 0.003 0 0 0 0 1 0 0 0 0 8.662 275932 chr16 57075484 57075484 C T NLRC5 Synonymous SNV L1009L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.292 275933 chr17 35295653 35295653 C G rs34167802 LHX1 Nonsynonymous SNV N53K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 275934 chr16 614978 614978 G A rs768191423 PRR35 Nonsynonymous SNV A463T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.518 275935 chr17 37370536 37370536 G A rs147384523 STAC2 Synonymous SNV Y155Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.243 275936 chr5 1079605 1079605 A - SLC12A7 M435Rfs*25 0.002 0 0 0 2 0 0 0 0 0 0 0 275937 chr17 39334255 39334255 C T rs767052388 KRTAP4-2 Synonymous SNV V54V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.722 275938 chr16 67685742 67685742 G T rs367950552 CARMIL2 Nonsynonymous SNV R861M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 275939 chr17 38062482 38062482 T C rs998711143 GSDMB Nonsynonymous SNV K235R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 275940 chr17 41891655 41891655 C T rs34130012 MPP3 Nonsynonymous SNV G387R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.92 275941 chr5 112770528 112770528 G A rs192415501 TSSK1B Synonymous SNV D3D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.518 275942 chr16 70428970 70428970 G A rs745498582 ST3GAL2 Nonsynonymous SNV R150W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 275943 chr17 38907512 38907512 C T rs200692586 KRT25 Nonsynonymous SNV V246M 0.002 0 0 0 2 0 0 0 0 0 0 0 27 275944 chr16 71660204 71660204 C T MARVELD3 Synonymous SNV H24H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.735 275945 chr5 1255429 1255429 A T TERT Nonsynonymous SNV Y981N 0.002 0 0 0 2 0 0 0 0 0 0 0 14.25 275946 chr5 127597441 127597441 G A rs144574441 FBN2 Nonsynonymous SNV P2784L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.18 275947 chr17 39137262 39137262 C T rs200935213 KRT40 Nonsynonymous SNV E277K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 275948 chr17 39974455 39974455 G C rs782237729 FKBP10 Nonsynonymous SNV R169P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28 275949 chr17 39346299 39346299 C G KRTAP9-1 Nonsynonymous SNV P54R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 275950 chr16 77325244 77325244 T C rs143615596 ADAMTS18 Synonymous SNV E935E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 275951 chr11 1271906 1271906 C T rs201400995 MUC5B Nonsynonymous SNV T4599M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 275952 chr17 39459006 39459006 C G KRTAP29-1 Nonsynonymous SNV C33S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.242 275953 chr17 42158212 42158212 G A rs1044138 HDAC5 Synonymous SNV Y883Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.316 275954 chr11 1756519 1756519 G A rs59052475 IFITM10 Synonymous SNV T226T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.61 275955 chr17 42478188 42478188 T A GPATCH8 Nonsynonymous SNV Q341H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 275956 chr16 81953174 81953174 G A PLCG2 Nonsynonymous SNV V714M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 275957 chr17 39672140 39672140 G A KRT15 Synonymous SNV S341S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 275958 chr16 83636197 83636197 G C rs200000145 CDH13 Nonsynonymous SNV E328Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 22.9 275959 chr11 2424234 2424234 G A rs1008265 TSSC4 Nonsynonymous SNV R124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.843 275960 chr17 51901707 51901707 T C rs148089052 KIF2B Nonsynonymous SNV I438T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 275961 chr11 2946406 2946406 G A rs61743248 SLC22A18 Synonymous SNV Q320Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.635 275962 chr16 84270410 84270410 T C rs765501123 KCNG4 Nonsynonymous SNV I228V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.683 275963 chr11 3147761 3147761 G A rs35933962 OSBPL5 Nonsynonymous SNV P54L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 0.019 275964 chr11 3239184 3239184 C A rs75066302 MRGPRG Nonsynonymous SNV G287V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 275965 chr11 3239988 3239988 G C rs74049082 MRGPRG Nonsynonymous SNV T19R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 275966 chr11 4389024 4389024 A G rs61910719 OR52B4 Synonymous SNV L168L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 275967 chr11 4566939 4566939 A G rs61747538 OR52M1 Synonymous SNV K173K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 275968 chr17 37791980 37791980 - T rs777154267 PPP1R1B 0.002 0 0 0 2 0 0 0 0 0 0 0 275969 chr17 38612772 38612772 G A rs151291502 IGFBP4 Synonymous SNV P238P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 275970 chr16 88721712 88721712 G A rs778313985 MVD Synonymous SNV H264H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 275971 chr4 169344888 169344888 C T rs755937873 DDX60L Nonsynonymous SNV M656I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 275972 chr15 34030704 34030704 A T RYR3 Synonymous SNV G2523G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.46 275973 chr17 44073970 44073970 G A rs141636979 MAPT Synonymous SNV K196K 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 12.01 275974 chr17 57057477 57057477 C T rs140315231 PPM1E Synonymous SNV S451S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.03 275975 chr17 45893982 45893982 G A rs772481347 OSBPL7 Nonsynonymous SNV P292L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 275976 chr17 39116644 39116644 C T rs17843022 KRT39 Nonsynonymous SNV R369Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 275977 chr16 88943586 88943586 T C rs753958242 CBFA2T3 Nonsynonymous SNV K501R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 275978 chr16 89180822 89180822 G C ACSF3 Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 275979 chr17 60744872 60744872 C T MRC2 Synonymous SNV A365A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.72 275980 chr16 89341327 89341327 C T rs766284510 ANKRD11 Synonymous SNV R2536R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 275981 chr11 5686851 5686851 G A rs141301043 TRIM5 Synonymous SNV C310C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.274 275982 chr16 89696892 89696892 G A rs769453541 DPEP1 Nonsynonymous SNV R25K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.142 275983 chr16 89799725 89799725 G T rs200120406 ZNF276 Nonsynonymous SNV K395N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 275984 chr16 89836358 89836358 C T rs147882314 FANCA Synonymous SNV A797A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.91 275985 chr17 39394409 39394409 T G rs532967615 KRTAP9-8 Nonsynonymous SNV S36A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.53 275986 chr11 5799474 5799474 G A rs138038454 OR52N5 Nonsynonymous SNV R131C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 275987 chr11 6024026 6024026 A G rs748520158 OR56A4 Nonsynonymous SNV L66P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 275988 chr11 6024044 6024044 T A rs573348744 OR56A4 Nonsynonymous SNV Q60L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 275989 chr4 155624 155624 T C rs61739357 ZNF718 Synonymous SNV N383N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.817 275990 chr11 6048654 6048654 T A rs145879154 OR56A1 Nonsynonymous SNV Y94F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.098 275991 chr11 6048726 6048726 A G rs200051242 OR56A1 Nonsynonymous SNV L70P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 275992 chr11 6048744 6048744 T A rs201319935 OR56A1 Nonsynonymous SNV Q64L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 275993 chr11 6458839 6458839 C T rs34273718 HPX Synonymous SNV K178K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.854 275994 chr11 6461926 6461926 T C rs75099526 HPX Nonsynonymous SNV T40A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.01 275995 chr11 6462175 6462175 C T rs35899065 HPX Nonsynonymous SNV A7T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.246 275996 chr11 6622573 6622573 G A rs73395104 RRP8 Synonymous SNV R241R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.792 275997 chr11 6623112 6623112 C G rs11040934 RRP8 Nonsynonymous SNV A145P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.06 275998 chr17 41955336 41955336 G A rs35093702 MPP2 Nonsynonymous SNV R489W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 275999 chr17 18047058 18047058 G A rs752814071 MYO15A Synonymous SNV V1998V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 276000 chr4 17710938 17710938 G C FAM184B Nonsynonymous SNV D157E 0 0 0 1 0 0 0.003 0 0 0 0 0 25 276001 chr17 62135265 62135265 C T rs778878997 ERN1 Nonsynonymous SNV R432Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 276002 chr17 18059577 18059577 A G rs201542989 MYO15A Nonsynonymous SNV K2843R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.4 276003 chr11 7817946 7817946 C T rs138172568 OR5P2 Nonsynonymous SNV E182K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 276004 chr11 7981749 7981749 C T rs199475855 NLRP10 Synonymous SNV Q470Q 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 8.914 276005 chr11 7982432 7982432 G A rs59039403 NLRP10 Nonsynonymous SNV R243W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 276006 chr11 8111196 8111196 G A rs61733960 TUB Synonymous SNV K26K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.1 276007 chr11 8662310 8662310 C A rs202229005 TRIM66 Nonsynonymous SNV V393L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 276008 chr17 67045434 67045434 T C ABCA9 Synonymous SNV P98P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.106 276009 chr11 9310025 9310025 A C rs61745545 TMEM41B Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.238 276010 chr11 9868587 9868587 G A rs74642088 SBF2 Synonymous SNV I950I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 Benign 14.27 276011 chr17 45891049 45891049 G A rs140138342 OSBPL7 Synonymous SNV N501N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.42 276012 chr17 46128645 46128645 C T rs772152071 NFE2L1 Synonymous SNV F55F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 276013 chr17 46847189 46847189 G A TTLL6 Nonsynonymous SNV H464Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 276014 chr11 12313760 12313760 A G MICALCL Synonymous SNV S15S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.111 276015 chr17 48271380 48271380 C T rs1800211 COL1A1 Nonsynonymous SNV R564H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.5 276016 chr17 26101405 26101405 G T NOS2 Synonymous SNV R452R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 276017 chr15 59910915 59910915 T C GCNT3 Nonsynonymous SNV Y160H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 276018 chr17 26821113 26821113 C T rs200664125 SLC13A2 Synonymous SNV T441T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.32 276019 chr17 27296901 27296901 G T rs756612094 SEZ6 Nonsynonymous SNV P310T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 276020 chr15 64506096 64506096 A C rs147337976 CSNK1G1 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.18 276021 chr17 56400067 56400067 C T rs369318203 TSPOAP1 Nonsynonymous SNV R362H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276022 chr15 65931938 65931938 G A rs200294071 SLC24A1 Synonymous SNV P632P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.91 276023 chr15 66222115 66222115 G A rs138699928 MEGF11 Synonymous SNV D505D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.363 276024 chr11 19259617 19259617 G A rs73416784 E2F8 Synonymous SNV T26T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.7 276025 chr11 19955670 19955670 C G rs139081933 NAV2 Nonsynonymous SNV T563S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 276026 chr17 74464865 74464865 G T rs139841386 AANAT Nonsynonymous SNV A13S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.23 276027 chr17 58678009 58678009 T A rs753797452 PPM1D Synonymous SNV P78P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.8 276028 chr11 20177967 20177967 G C rs187014041 DBX1 Nonsynonymous SNV N275K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.87 276029 chr17 59761229 59761229 C T rs149016505 BRIP1 Nonsynonymous SNV V1060I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.405 276030 chr11 20622728 20622728 G T rs143482044 SLC6A5 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.984 276031 chr15 69238424 69238424 T G rs150235487 SPESP1 Stop gain L184X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.285 276032 chr11 22841884 22841884 T C rs534225130 SVIP 0.001 0 0 0 1 0 0 0 0 0 0 0 1.265 276033 chr5 2755306 2755306 C G C5orf38 Nonsynonymous SNV P166R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.559 276034 chr17 79096553 79096553 G A rs759642127 AATK Synonymous SNV L292L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 276035 chr11 26702757 26702757 T G rs182261149 SLC5A12 Synonymous SNV G440G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.042 276036 chr17 76503372 76503372 G A rs374679701 DNAH17 Nonsynonymous SNV A1555V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 276037 chr11 30942438 30942438 G A rs143428541 DCDC1 Nonsynonymous SNV L167F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 276038 chr17 63149631 63149631 T A RGS9 Nonsynonymous SNV M50K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 276039 chr11 31327836 31327836 A C rs16922066 DCDC1 Synonymous SNV A178A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.751 276040 chr15 74706985 74706985 C T rs149328667 SEMA7A Synonymous SNV T385T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.13 276041 chr15 74932904 74932904 C T rs1046777028 EDC3 Nonsynonymous SNV V148M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 276042 chr15 75144463 75144463 G C rs377025082 SCAMP2 Nonsynonymous SNV A97G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 276043 chr17 65103373 65103373 T C rs750884824 HELZ Nonsynonymous SNV Q1719R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 276044 chr11 33565338 33565338 T C rs79216682 KIAA1549L Synonymous SNV P743P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 276045 chr17 79880796 79880796 C T rs374433638 MAFG Synonymous SNV T58T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.83 276046 chr11 34668184 34668184 C T rs146439677 EHF Nonsynonymous SNV T99M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276047 chr17 36916717 36916717 C T rs752478547 PSMB3 Synonymous SNV A110A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 276048 chr11 35223303 35223303 G A rs11033026 CD44 Synonymous SNV E331E 0.002 0 0.003 0 2 0 0 1 1 0 0 0 0.628 276049 chr4 77677756 77677756 G A rs750995543 SHROOM3 Nonsynonymous SNV A1622T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.956 276050 chr11 43457751 43457751 C G rs181292397 TTC17 Nonsynonymous SNV D763E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.59 276051 chr11 45889228 45889228 C T rs35488012 CRY2 Synonymous SNV G208G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17 276052 chr17 72301394 72301394 G A rs372196782 DNAI2 Nonsynonymous SNV V342I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.821 276053 chr18 2892381 2892381 C T rs61741021 EMILIN2 Synonymous SNV S752S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 276054 chr17 79257250 79257250 C T SLC38A10 Nonsynonymous SNV D106N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 276055 chr11 48166642 48166642 C T rs34300475 PTPRJ Synonymous SNV R959R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 276056 chr11 48185155 48185155 T C rs11039554 PTPRJ Nonsynonymous SNV I1235T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.2 276057 chr17 73498986 73498986 A C rs145644586 CASKIN2 Nonsynonymous SNV D641E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 276058 chr17 73569633 73569633 T C LLGL2 Nonsynonymous SNV C933R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 276059 chr18 29867737 29867737 T G GAREM1 Nonsynonymous SNV N275H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 276060 chr17 81052254 81052254 C T rs375543552 METRNL Synonymous SNV D290D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.466 276061 chr4 7044507 7044512 CTCCTC - rs774195786 CCDC96 E52_E53del 0 0 0 1 0 0 0.003 0 0 0 0 0 276062 chr17 40647664 40647664 A G rs760669174 ATP6V0A1 Nonsynonymous SNV N504S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 276063 chr17 41738645 41738645 G A rs146429085 MEOX1 Synonymous SNV P86P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.668 276064 chr18 43667454 43667454 G A ATP5F1A Synonymous SNV A218A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 276065 chr18 43685276 43685276 G T HAUS1 Nonsynonymous SNV R49S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 276066 chr18 31673533 31673533 A T rs1008761439 NOL4 Nonsynonymous SNV F223Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 276067 chr18 10789134 10789134 G A rs58332766 PIEZO2 Synonymous SNV I704I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.8 276068 chr18 10801401 10801401 T C rs61978645 PIEZO2 Nonsynonymous SNV Y409C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.1 276069 chr4 79158756 79158756 A G rs117876433 FRAS1 Synonymous SNV Q67Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 6 276070 chr11 55340210 55340210 G A rs12288690 OR4C16 Nonsynonymous SNV A203T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.067 276071 chr17 78086763 78086763 G A rs751873094 GAA Synonymous SNV V659V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.92 276072 chr17 4578415 4578415 G C PELP1 Nonsynonymous SNV I411M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 276073 chr5 118533637 118533637 A G rs147595563 DMXL1 Synonymous SNV T2577T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.039 276074 chr5 118582779 118582779 G C rs2174433 DMXL1 Synonymous SNV V2810V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.731 276075 chr17 46709859 46709859 G A rs186449583 MIR196A1 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 276076 chr17 79226340 79226340 C A rs148973154 SLC38A10 Nonsynonymous SNV V534F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 276077 chr17 48628115 48628115 G A rs771622998 SPATA20 Nonsynonymous SNV R391Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 276078 chr16 846757 846757 C T rs199515553 CHTF18 Nonsynonymous SNV R833C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 276079 chr5 96098042 96098042 C T rs201451322 CAST Nonsynonymous SNV T496M 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 276080 chr5 96116132 96116132 - A rs751633504 ERAP1 Stop gain E889* 0.002 0 0 0 2 0 0 0 0 0 0 0 276081 chr19 648408 648408 C T rs548726473 RNF126 Synonymous SNV L223L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 276082 chr19 694971 694971 C T rs762547277 PRSS57 0.001 0 0 0 1 0 0 0 0 0 0 0 2.872 276083 chr5 79465366 79465366 T A rs759750207 SERINC5 Synonymous SNV T185T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 276084 chr18 66381118 66381118 G A TMX3 Synonymous SNV V22V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.44 276085 chr11 57003728 57003728 C T rs376442198 APLNR Nonsynonymous SNV V251M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 276086 chr16 2348518 2348518 G A rs149808995 ABCA3 Nonsynonymous SNV R589W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 276087 chr11 57958796 57958796 C T rs73470064 OR9Q2 Synonymous SNV Y278Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.016 276088 chr18 12955479 12955479 A G rs140218685 SEH1L Synonymous SNV V60V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 276089 chr11 58170145 58170145 G A rs78975225 OR5B3 Synonymous SNV V246V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.599 276090 chr18 64235808 64235808 A G rs778685863 CDH19 Nonsynonymous SNV L112P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276091 chr11 59271476 59271476 C G rs75219695 OR4D11 Nonsynonymous SNV A143G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.377 276092 chr11 59410468 59410468 T C rs79336999 PATL1 Nonsynonymous SNV Y645C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 276093 chr11 59423117 59423117 G T rs77539250 PATL1 Synonymous SNV R304R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.36 276094 chr11 59604754 59604754 T C rs35867471 CBLIF Nonsynonymous SNV N255S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 276095 chr11 59629063 59629063 C T rs560596044 TCN1 Nonsynonymous SNV E165K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 276096 chr18 71930584 71930584 T C CYB5A Synonymous SNV P86P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 3.942 276097 chr18 22806465 22806465 G T rs779125618 ZNF521 Nonsynonymous SNV P253T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.894 276098 chr17 67247900 67247900 G C rs139447246 ABCA5 Nonsynonymous SNV S1508C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 276099 chr19 629868 629868 C T rs751778938 POLRMT Nonsynonymous SNV R165Q 0 0.005 0 0 0 2 0 0 0 0 0 0 2.062 276100 chr11 60511258 60511258 A G rs12274574 MS4A18 Nonsynonymous SNV I330V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.455 276101 chr17 6945767 6945767 G A SLC16A11 Nonsynonymous SNV S221L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 276102 chr18 29419403 29419403 T C TRAPPC8 Synonymous SNV E1285E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.743 276103 chr11 61084009 61084009 C T DDB1 Nonsynonymous SNV R419H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 276104 chr19 464141 464141 G C rs141908329 ODF3L2 Synonymous SNV P191P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 276105 chr5 149516594 149516594 G A rs150173975 PDGFRB Nonsynonymous SNV A6V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.375 276106 chr11 62291459 62291459 A C rs142797345 AHNAK Nonsynonymous SNV M3477R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 276107 chr19 1049369 1049369 C T rs1045621919 ABCA7 Synonymous SNV L829L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 276108 chr11 62396763 62396763 G C rs143163117 GANAB Synonymous SNV A499A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.901 276109 chr11 62400660 62400660 C T rs139305180 GANAB Synonymous SNV P124P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.49 276110 chr11 62407167 62407167 G C rs113618920 GANAB Synonymous SNV V25V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.455 276111 chr11 62417461 62417461 G C rs147526507 INTS5 Nonsynonymous SNV L31V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 276112 chr11 62437169 62437169 G A rs145893700 LBHD1 Nonsynonymous SNV T112I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 276113 chr11 62437425 62437425 T C rs112245148 LBHD1 Nonsynonymous SNV S27G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 276114 chr18 45555954 45555954 C T rs559657443 ZBTB7C Nonsynonymous SNV E513K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 276115 chr11 62494249 62494249 G A rs200377356 HNRNPUL2 Nonsynonymous SNV A127V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 276116 chr11 62559427 62559427 C T rs182678917 TMEM223 Nonsynonymous SNV A14T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 276117 chr11 62748760 62748760 C T rs776644088 SLC22A6 Nonsynonymous SNV R298Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 276118 chr11 62848517 62848517 C T rs75726395 SLC22A24 Synonymous SNV A491A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 276119 chr11 63065156 63065156 G A rs200940829 SLC22A10 Nonsynonymous SNV V263M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 276120 chr11 63283069 63283069 G A rs142776345 LGALS12 Nonsynonymous SNV A180T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.061 276121 chr19 2733004 2733004 G A rs377564224 SLC39A3 Synonymous SNV A230A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.753 276122 chr19 2917068 2917068 C T rs61743150 ZNF57 Nonsynonymous SNV T118M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.785 276123 chr17 74160855 74160855 C T RNF157 Nonsynonymous SNV V232I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 276124 chr18 56963938 56963938 C T rs202101844 CPLX4 Nonsynonymous SNV V159M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 276125 chr11 64564315 64564315 G A rs139891267 MAP4K2 Synonymous SNV H478H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 276126 chr11 64662826 64662826 C A rs371145155 ATG2A Nonsynonymous SNV R1831L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276127 chr17 74462271 74462271 T A AANAT Nonsynonymous SNV M6K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 276128 chr11 64757664 64757664 C A rs4084085 BATF2 0.001 0 0 0 1 0 0 0 0 0 0 0 7.564 276129 chr6 130374065 130374065 C T rs774291119 L3MBTL3 Nonsynonymous SNV R146W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 276130 chr19 3806095 3806095 T G rs757840301 ZFR2 Nonsynonymous SNV Q891P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 276131 chr18 61564438 61564438 T C SERPINB2 Synonymous SNV S134S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.231 276132 chr11 64824957 64824957 G A rs34388471 NAALADL1 Synonymous SNV L163L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 276133 chr11 64972308 64972308 T A rs11826089 CAPN1 Synonymous SNV T440T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.85 276134 chr11 64981487 64981487 C G rs757488226 SLC22A20P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.532 276135 chr16 28493482 28493482 G A rs386833694 CLN3 Nonsynonymous SNV R234C 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 34 276136 chr17 76128489 76128489 G A TMC8 Synonymous SNV L116L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 276137 chr11 65655185 65655185 A G rs369187767 FIBP Synonymous SNV F99F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.055 276138 chr16 30990915 30990915 G T SETD1A Nonsynonymous SNV A1270S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 276139 chr11 66082468 66082468 G A rs145242086 CD248 Synonymous SNV A677A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.509 276140 chr17 7696153 7696153 G A rs760924073 DNAH2 Nonsynonymous SNV V2442I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.492 276141 chr17 77081392 77081392 C T rs187930923 ENGASE Synonymous SNV C556C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 276142 chr11 67191075 67191075 C A rs1790746 CARNS1 Nonsynonymous SNV A496D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 276143 chr17 78858822 78858822 G A rs148017572 RPTOR Synonymous SNV A619A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.143 276144 chr11 67811771 67811771 G C rs376320516 TCIRG1 Nonsynonymous SNV R111P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 276145 chr11 69589622 69589622 C A rs372255755 FGF4 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 276146 chr11 70333047 70333047 G C rs142550207 SHANK2 Synonymous SNV P529P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.149 276147 chr19 1244381 1244381 C T rs200485963 ATP5F1D Nonsynonymous SNV A151V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 276148 chr11 71729517 71729517 G A rs147509804 NUMA1 Nonsynonymous SNV A262V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.962 276149 chr11 72420971 72420971 G A rs763988296 ARAP1 Synonymous SNV N244N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 276150 chr11 72946197 72946197 G A rs150017416 P2RY2 Synonymous SNV P331P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.105 276151 chr5 37227405 37227405 G A CPLANE1 Synonymous SNV F487F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 276152 chr11 74204334 74204334 G A rs925315842 LIPT2 Nonsynonymous SNV P139S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.261 276153 chr11 74414387 74414387 G A rs189918462 CHRDL2 Synonymous SNV P238P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.645 276154 chr11 74559224 74559224 C T rs148106244 XRRA1 Nonsynonymous SNV R460H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.637 276155 chr11 74952724 74952724 G A rs137982262 TPBGL Synonymous SNV L210L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.281 276156 chr11 75113358 75113360 TGG - rs141837939 RPS3 V90del 0.001 0 0 0 1 0 0 0 0 0 0 0 276157 chr5 41739522 41739522 G A rs144283422 OXCT1 Synonymous SNV D311D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.03 276158 chr11 75298206 75298206 C T rs151285396 MAP6 Synonymous SNV K780K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.32 276159 chr18 21116684 21116684 G A rs145145840 NPC1 Synonymous SNV T1066T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.34 276160 chr18 2578028 2578028 G C rs142862448 NDC80 Nonsynonymous SNV V122L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.396 276161 chr11 78380739 78380739 G A rs61747204 TENM4 Synonymous SNV Y2217Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.062 276162 chr11 78380907 78380907 C T rs368017099 TENM4 Synonymous SNV S2161S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 276163 chr11 78387356 78387356 C T rs59660398 TENM4 Synonymous SNV A1779A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 276164 chr11 82561083 82561083 C G rs145127979 PRCP Nonsynonymous SNV Q103H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276165 chr18 28993455 28993455 T C rs145343712 DSG4 Nonsynonymous SNV M1026T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.015 276166 chr11 85623778 85623778 G A rs75426661 CCDC83 Nonsynonymous SNV R294H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.259 276167 chr18 29497593 29497593 A G rs761921624 TRAPPC8 Synonymous SNV F130F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.228 276168 chr11 87029263 87029263 A G rs142933575 TMEM135 Nonsynonymous SNV I366V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.53 276169 chr19 11460696 11460696 G A rs755603210 CCDC159 Synonymous SNV Q46Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.78 276170 chr18 31324143 31324143 G A rs548755448 ASXL3 Nonsynonymous SNV R1444Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 276171 chr11 88242468 88242468 C A rs201317984 GRM5 Synonymous SNV T945T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.97 276172 chr11 89896168 89896168 T C rs7931716 NAALAD2 Synonymous SNV N314N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.286 276173 chr19 5071054 5071054 G A rs781423796 KDM4B Synonymous SNV L220L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 276174 chr19 5694813 5694813 G A rs199769453 LONP1 Nonsynonymous SNV R509C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 276175 chr11 94277515 94277515 G A rs80318628 FUT4 Synonymous SNV Q72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.859 276176 chr18 42533084 42533084 C T rs146524875 SETBP1 Nonsynonymous SNV T1260M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.3 276177 chr11 100226928 100226928 A G rs35208161 CNTN5 Nonsynonymous SNV M1020V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.004 276178 chr18 44104740 44104740 C T rs763078543 LOXHD1 Synonymous SNV L350L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.34 276179 chr5 37816112 37816112 G A rs36119840 GDNF Nonsynonymous SNV R93W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 28.8 276180 chr18 48992242 48992242 A G rs113227876 LINC01630 0 0 0.003 0 0 0 0 1 0 0 0 0 6.148 276181 chr5 76128801 76128801 C G rs768730578 F2RL1 Synonymous SNV L123L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.4 276182 chr11 104874041 104874041 C T rs3181179 CASP5 Nonsynonymous SNV R26H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.067 276183 chr11 104916018 104916018 C T rs150516068 CARD16 Nonsynonymous SNV D3N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276184 chr11 106680914 106680914 A G rs151305554 GUCY1A2 Synonymous SNV P499P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.201 276185 chr11 108043293 108043293 A C rs200575398 NPAT Nonsynonymous SNV D806E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.192 276186 chr11 108382207 108382207 T C rs34978242 EXPH5 Nonsynonymous SNV T1155A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 276187 chr11 110007484 110007484 C T rs375346362 ZC3H12C Nonsynonymous SNV H40Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 276188 chr11 111156378 111156378 - G rs551852515 C11orf53 Frameshift insertion D157Gfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 276189 chr11 111796969 111796969 G T rs11214045 HSPB2-C11orf52 0.001 0 0 0 1 0 0 0 0 0 0 0 6.576 276190 chr6 35211389 35211389 C T rs531556751 SCUBE3 Nonsynonymous SNV T642M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 276191 chr11 112131255 112131255 G T rs116883740 PLET1 Nonsynonymous SNV L20M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 276192 chr11 116631482 116631482 G A rs61730763 BUD13 Nonsynonymous SNV P274L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 276193 chr19 15234014 15234014 G A rs148979321 ILVBL Synonymous SNV L126L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.33 276194 chr11 116692558 116692558 G A rs5101 APOA4 Synonymous SNV Y72Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 3.461 276195 chr5 67522799 67522799 C T rs755859763 PIK3R1 Nonsynonymous SNV P99L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 276196 chr19 15375484 15375484 T C rs770828275 BRD4 Nonsynonymous SNV T315A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.836 276197 chr5 95091206 95091206 A G rs144697001 RHOBTB3 Synonymous SNV L263L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.217 276198 chr18 73000088 73000088 G A rs150180967 TSHZ1 Nonsynonymous SNV R909Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.7 276199 chr19 13065250 13065250 C T GADD45GIP1 Synonymous SNV Q147Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.838 276200 chr11 119548363 119548363 C T rs142930935 NECTIN1 Nonsynonymous SNV R212H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 27.2 276201 chr19 17166713 17166713 C T rs142481772 HAUS8 Nonsynonymous SNV V248M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.595 276202 chr19 15198535 15198535 G A rs115448158 OR1I1 Nonsynonymous SNV R220H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.1 276203 chr19 10116789 10116789 C T rs758793052 COL5A3 Synonymous SNV Q69Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.974 276204 chr19 15296403 15296403 C T rs10406745 NOTCH3 Nonsynonymous SNV R680H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 276205 chr6 111695703 111695703 T C REV3L Synonymous SNV G1285G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 276206 chr11 123886707 123886707 C T rs147538417 OR10G4 Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.604 276207 chr19 10472508 10472508 G A rs772558245 TYK2 Nonsynonymous SNV R633C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.257 276208 chr19 10970633 10970633 A G rs747406299 C19orf38 Synonymous SNV T168T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.463 276209 chr11 124056257 124056257 A G rs61746122 OR10D3 Nonsynonymous SNV Y94C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.16 276210 chr11 124056450 124056450 C G rs61743734 OR10D3 Nonsynonymous SNV I158M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.605 276211 chr19 11527525 11527525 G C RGL3 Nonsynonymous SNV P119R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 276212 chr11 124310618 124310618 G A rs61733267 OR8B8 Nonsynonymous SNV R122C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 276213 chr11 124440132 124440132 C T rs61753590 OR8A1 Synonymous SNV I39I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 276214 chr19 12125669 12125669 G A ZNF433 Synonymous SNV D671D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.619 276215 chr19 18643000 18643000 C T rs939229342 FKBP8 Synonymous SNV V406V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.63 276216 chr11 125365485 125365485 T C rs111574826 LOC403312 0.001 0 0 0 1 0 0 0 0 0 0 0 3.798 276217 chr19 12224167 12224167 G A rs974372487 ZNF788P Nonsynonymous SNV R602H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.74 276218 chr11 125495719 125495719 G A rs73616024 CHEK1 Nonsynonymous SNV G22S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.754 276219 chr19 1272017 1272017 G A rs369012420 CIRBP Nonsynonymous SNV G157S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 276220 chr19 13320310 13320310 G C rs16049 CACNA1A Synonymous SNV T2115T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.42 276221 chr11 126276870 126276870 C T rs144143100 ST3GAL4 Nonsynonymous SNV P44L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 276222 chr19 14065365 14065365 C T rs142957694 DCAF15 Synonymous SNV C86C 0.002 0 0.007 0 2 0 0 2 0 0 0 0 13.83 276223 chr11 129991606 129991606 A G rs11822318 APLP2, APLP2 Nonsynonymous SNV Q205R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 276224 chr17 5118041 5118041 A G rs561998705 SCIMP Nonsynonymous SNV L118P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.852 276225 chr19 14863305 14863305 T C rs61731999 ADGRE2 Nonsynonymous SNV M484V 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 0.001 276226 chr11 130343702 130343702 C T rs61744317 ADAMTS15 Synonymous SNV L947L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.69 276227 chr19 38103657 38103657 G A rs143073955 ZNF540 Synonymous SNV V460V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 276228 chr19 15565028 15565028 C T RASAL3 Synonymous SNV E737E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 276229 chr19 19653441 19653441 A C CILP2 Nonsynonymous SNV I284L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.504 276230 chr17 7646390 7646390 C T rs778027747 DNAH2 Nonsynonymous SNV R612W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 276231 chr19 21607415 21607415 A - rs530680240 ZNF493 S524Vfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 276232 chr19 22255640 22255640 A G ZNF257 Synonymous SNV V11V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.922 276233 chr19 17311590 17311590 C T rs761130683 MYO9B Synonymous SNV I1505I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.5 276234 chr19 18234797 18234797 G A rs765831120 MAST3 Nonsynonymous SNV A199T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.825 276235 chr19 18280041 18280041 C T PIK3R2 Synonymous SNV L708L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 276236 chr19 35642166 35642166 C T rs202229878 FXYD7 Nonsynonymous SNV T24M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 276237 chr19 19416723 19416723 G A rs766788551 SUGP1 Nonsynonymous SNV P158L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 276238 chr19 18380283 18380283 G C rs144766838 IQCN Synonymous SNV T2T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.866 276239 chr19 19655230 19655230 C T rs147580706 CILP2 Nonsynonymous SNV R626C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 276240 chr19 36430754 36430754 C A LRFN3 Nonsynonymous SNV L143M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 276241 chr19 19740791 19740791 T C GMIP Nonsynonymous SNV E936G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 276242 chr17 17122414 17122414 T C rs763078516 FLCN Synonymous SNV A327A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.031 276243 chr17 17700914 17700914 C T rs202158738 RAI1 Nonsynonymous SNV S1551L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.05 276244 chr19 40433773 40433773 C T rs764988689 FCGBP Nonsynonymous SNV A166T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.186 276245 chr19 31039457 31039457 C T ZNF536 Synonymous SNV D977D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 276246 chr12 13224228 13224228 - T FAM234B Frameshift insertion C475Lfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 276247 chr6 25691352 25691352 G A rs116325082 SCGN Synonymous SNV Q234Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 276248 chr6 26021945 26021945 G A rs74642629 H4C1 Synonymous SNV K13K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 276249 chr6 26027175 26027175 G A rs182575157 H4C2 Synonymous SNV G102G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.093 276250 chr19 3013695 3013700 GGTGAG - TLE2 S159_P160del 0 0 0.003 0 0 0 0 1 0 0 0 0 276251 chr19 3013701 3013701 - T TLE2 Frameshift insertion G158Efs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 276252 chr6 26056417 26056417 G A rs114826548 H1-2 Synonymous SNV I80I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.251 276253 chr12 18641444 18641444 G C PIK3C2G Nonsynonymous SNV A815P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 276254 chr19 42461192 42461192 G A rs782188389 RABAC1 Synonymous SNV G149G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.52 276255 chr19 33372920 33372920 - T CEP89 0 0 0.003 0 0 0 0 1 0 0 0 0 276256 chr19 33604684 33604684 T C rs990533363 GPATCH1 Nonsynonymous SNV V635A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 276257 chr19 40433711 40433711 T C FCGBP Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 276258 chr19 40581857 40581857 C T rs145080441 ZNF780A Synonymous SNV P164P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.8 276259 chr7 128370003 128370003 C T rs140953386 FAM71F1 Nonsynonymous SNV R299C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 276260 chr7 129666088 129666088 G A ZC3HC1 Nonsynonymous SNV T229I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 276261 chr7 100686613 100686613 C T MUC17 Synonymous SNV N3972N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.704 276262 chr7 130002325 130002325 G T CPA5 Nonsynonymous SNV G194V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 276263 chr19 36108223 36108223 A G rs376458399 HAUS5 Nonsynonymous SNV Q197R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 276264 chr6 33657037 33657037 C A ITPR3 Synonymous SNV I2239I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 276265 chr19 42125967 42125967 C G rs782557399 CEACAM4 Nonsynonymous SNV E249Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.512 276266 chr19 38126770 38126770 T C ZFP30 Synonymous SNV T224T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.113 276267 chr19 45176196 45176199 TGAA - rs761154450 CEACAM19 E129Gfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 276268 chr19 45254534 45254534 C T BCL3 Synonymous SNV L103L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.7 276269 chr12 48181902 48181902 G A rs143706913 HDAC7 Nonsynonymous SNV P724S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 276270 chr12 48189452 48189452 G A rs995749172 HDAC7 Synonymous SNV P298P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 276271 chr19 46205167 46205167 G A rs369332200 QPCTL Nonsynonymous SNV R239H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 276272 chr12 49170004 49170004 G T rs116290355 ADCY6 Synonymous SNV A555A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.325 276273 chr19 47920088 47920088 G A rs564791336 MEIS3 Synonymous SNV N106N 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 11.59 276274 chr7 127669751 127669751 G T rs779786213 LRRC4 Nonsynonymous SNV L315I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 276275 chr12 49426437 49426437 T G rs761197861 KMT2D Synonymous SNV P4017P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.084 276276 chr6 168443358 168443358 G A rs199959876 KIF25 Nonsynonymous SNV R316Q 0 0 0 2 0 0 0.005 0 0 0 0 0 32 276277 chr12 50037937 50037937 C T rs776128769 PRPF40B Nonsynonymous SNV R860W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 276278 chr19 41096220 41096220 C T rs756050777 SHKBP1 Nonsynonymous SNV R554W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 276279 chr6 42073987 42073987 G A rs199641940 C6orf132 Nonsynonymous SNV P555S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.626 276280 chr19 45208905 45208905 C T rs780505743 CEACAM16 Nonsynonymous SNV T236I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 276281 chr7 130417896 130417896 C G rs782253618 KLF14 Nonsynonymous SNV C322S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 276282 chr6 170871054 170871064 AGCAGCAGCAG ACAGCAG TBP Q57Hfs*66 0 0 0 1 0 0 0.003 0 0 0 0 0 276283 chr19 49001623 49001623 C G rs374685950 LMTK3 Synonymous SNV P930P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.631 276284 chr19 45495579 45495579 C T rs36101520 CLPTM1 Synonymous SNV A534A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 276285 chr19 45662160 45662160 C T rs114171059 NKPD1 Nonsynonymous SNV R97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 276286 chr19 40900967 40900967 C T rs565167885 PRX Nonsynonymous SNV E1098K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 276287 chr19 46202100 46202100 C G rs774246175 QPCTL Synonymous SNV P182P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.603 276288 chr19 46215131 46215131 G A rs369063491 FBXO46 Synonymous SNV D541D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.708 276289 chr19 49920665 49920665 - CTG rs758442914 CCDC155 L536_S537insL 0 0.005 0 0 0 2 0 0 0 0 0 0 276290 chr7 141341125 141341125 C T rs543549513 AGK Synonymous SNV T268T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.28 276291 chr19 49183519 49183519 C A rs138919976 SEC1P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.536 276292 chr19 49299713 49299713 C T rs150116784 BCAT2 Nonsynonymous SNV R279H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 276293 chr17 45299140 45299140 G A rs375241929 MYL4 Nonsynonymous SNV V136M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 30 276294 chr7 149494386 149494386 C G rs371353979 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 2.903 276295 chr19 45315505 45315505 G A BCAM Nonsynonymous SNV G97D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 276296 chr19 45682640 45682640 - C BLOC1S3 Frameshift insertion S30Lfs*115 0 0 0.003 0 0 0 0 1 0 0 0 0 276297 chr19 46215404 46215404 C T FBXO46 Synonymous SNV R450R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.909 276298 chr12 57397010 57397010 A C rs769729597 ZBTB39 Nonsynonymous SNV S564R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 276299 chr6 3751685 3751685 G A rs777263240 PXDC1 Synonymous SNV L27L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.57 276300 chr19 52004820 52004820 G A rs780128292 SIGLEC12 Synonymous SNV S56S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.129 276301 chr19 50189875 50189875 G A rs763842934 PRMT1 Synonymous SNV P222P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.408 276302 chr6 7559571 7559571 G A rs774829433 DSP Nonsynonymous SNV G179S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 276303 chr17 48653129 48653129 C T rs752212768 CACNA1G Nonsynonymous SNV R456W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 276304 chr19 52888163 52888163 G A ZNF880 Nonsynonymous SNV V444I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.649 276305 chr12 64588117 64588117 C G rs748065669 C12orf66 Synonymous SNV T281T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 276306 chr19 52919704 52919704 A G rs142032532 ZNF528 Synonymous SNV A533A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.334 276307 chr19 53344257 53344257 C - rs752278455 ZNF468 R431Gfs*53 0.001 0.003 0 0 1 1 0 0 0 0 0 0 276308 chr19 53344260 53344342 GTGTCTTTCCAGGTTTGATTTGCGACTGAAAACTTTGCAACATTCTTCACATTTGTAAGGTTTCTCTCCACTATGAATCCTCC - ZNF468 R402Kfs*13 0.001 0.003 0 0 1 1 0 0 0 0 0 0 276309 chr19 49514454 49514454 G A rs555593832 RUVBL2 Synonymous SNV L262L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.322 276310 chr19 50338293 50338293 C T rs376038328 MED25 Synonymous SNV L511L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.33 276311 chr19 50770264 50770264 A T MYH14 Nonsynonymous SNV Q901L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276312 chr19 50498462 50498462 G A VRK3 Synonymous SNV H200H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.848 276313 chr12 93966693 93966693 A G rs7956250 SOCS2 Nonsynonymous SNV E7G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 276314 chr19 57672141 57672141 C T rs748002224 DUXA Nonsynonymous SNV R17H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 276315 chr19 5135406 5135406 C T rs141851941 KDM4B Synonymous SNV A714A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.353 276316 chr19 51958012 51958012 T C rs200512602 SIGLEC8 Synonymous SNV Q265Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276317 chr19 51631282 51631282 C T rs764048873 SIGLEC9 Synonymous SNV C364C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 276318 chr12 97337484 97337484 G C rs780480091 NEDD1 Nonsynonymous SNV A392P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 276319 chr12 98991790 98991790 T C rs11544648 SLC25A3 Synonymous SNV L146L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 2.814 276320 chr12 98993624 98993624 A G rs12297282 SNORA53 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.22 276321 chr12 99007510 99007510 T A IKBIP Synonymous SNV T302T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.376 276322 chr12 101018632 101018632 T C rs61745248 GAS2L3 Synonymous SNV Y683Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 276323 chr12 102224427 102224427 C T rs222504 GNPTAB Synonymous SNV Q9Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.093 276324 chr19 5273587 5273587 T C PTPRS Nonsynonymous SNV E82G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 276325 chr19 59073801 59073801 G A rs147818011 MZF1 Nonsynonymous SNV H615Y 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 276326 chr19 54754700 54754700 T C rs143624656 LILRB5 Nonsynonymous SNV R476G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 276327 chr12 108097464 108097464 C G rs376285721 PWP1 Synonymous SNV V240V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.113 276328 chr12 112884141 112884141 G A rs750261927 PTPN11 Nonsynonymous SNV D26N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 276329 chr19 54756757 54756757 T C rs759413117 LILRB5 Nonsynonymous SNV H384R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 276330 chr7 100683363 100683363 T G MUC17 Nonsynonymous SNV L2889R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 276331 chr19 58438549 58438549 G A rs746743498 ZNF418 Stop gain R249X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 276332 chr19 55708761 55708761 G T rs61734206 PTPRH Nonsynonymous SNV Q394K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 276333 chr19 56029541 56029541 - ATCCCACCATGACTGCTG rs753356794 SSC5D T1304_P1305insADPTMT 0.001 0.003 0 0 1 1 0 0 0 0 0 0 276334 chr12 122359385 122359385 C T rs370060195 WDR66 Synonymous SNV G58G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 276335 chr20 1291472 1291472 T C rs373203370 SDCBP2 Nonsynonymous SNV S181G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.96 276336 chr19 57089495 57089495 A G ZNF470 Synonymous SNV E566E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.37 276337 chr12 123687889 123687889 G A rs199891417 MPHOSPH9 Synonymous SNV L410L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.463 276338 chr12 123915120 123915120 C A RILPL2 Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 276339 chr17 79096344 79096344 G A rs374609689 AATK Synonymous SNV D361D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.47 276340 chr19 5692136 5692136 C T rs779007980 LONP1 Synonymous SNV E733E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 276341 chr12 132400653 132400653 C T rs77188001 ULK1 Synonymous SNV P609P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.892 276342 chr19 5847623 5847623 G A rs138410688 LOC101928844 0 0 0.007 0 0 0 0 2 0 0 1 0 6.366 276343 chr20 33464531 33464531 G C ACSS2 Nonsynonymous SNV S28T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 276344 chr20 7967974 7967974 G A rs145658015 TMX4 Synonymous SNV F192F 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 14.55 276345 chr7 143208863 143208863 C A rs976728678 OR10AC1 Nonsynonymous SNV V48L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 276346 chr8 104415456 104415456 T C rs148086977 SLC25A32 Nonsynonymous SNV Y163C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 276347 chr8 104439385 104439385 C G rs145609503 DCAF13 Nonsynonymous SNV Q177E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 276348 chr19 6981216 6981256 CTCAGATTTTCCTTCCAAAAAAATTAAGCTAATTAGATTGA - rs759140107 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 276349 chr13 33701606 33701606 G A rs144801804 STARD13 Nonsynonymous SNV T601M 0.003 0 0 0 3 0 0 0 0 0 0 0 34 276350 chr7 100683136 100683136 T A rs879248531 MUC17 Synonymous SNV T2813T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.28 276351 chr7 100683142 100683142 G A MUC17 Nonsynonymous SNV M2815I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 276352 chr7 100683144 100683144 C T MUC17 Nonsynonymous SNV P2816L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.522 276353 chr7 100683150 100683152 ACC - MUC17 H2819del 0 0 0 1 0 0 0.003 0 0 0 0 0 276354 chr7 100683153 100683153 A G MUC17 Nonsynonymous SNV H2819R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 276355 chr20 3171455 3171455 G A rs770238423 DDRGK1 Synonymous SNV D263D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 276356 chr20 2843494 2843494 C T rs757926126 VPS16 Synonymous SNV P415P 0.002 0 0 0 2 0 0 0 0 0 0 0 16.26 276357 chr20 33523395 33523395 C T rs747688114 GSS Nonsynonymous SNV R273H 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 24 276358 chr8 121561151 121561151 T A SNTB1 Nonsynonymous SNV D395V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 276359 chr13 46924292 46924292 C T rs113481832 RUBCNL Nonsynonymous SNV G294S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.998 276360 chr20 35234442 35234442 C G RAB5IF Nonsynonymous SNV R30G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 276361 chr20 35580031 35580031 A C SAMHD1 Nonsynonymous SNV S6A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.208 276362 chr20 60903482 60903482 G T rs369784534 LAMA5 Synonymous SNV R1489R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.815 276363 chr20 60927104 60927104 C G rs756618172 LAMA5 Nonsynonymous SNV G240A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 276364 chr13 60453424 60453424 T - rs749295034 DIAPH3 Y586Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 276365 chr20 20493253 20493253 G T RALGAPA2 Nonsynonymous SNV T1587N 0.003 0 0 0 3 0 0 0 0 0 0 0 1.709 276366 chr19 9071606 9071606 C T MUC16 Synonymous SNV S5280S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 276367 chr20 47990363 47990363 C G rs145456546 KCNB1 Synonymous SNV G578G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.295 276368 chr20 62197475 62197475 G A rs750153699 HELZ2 Synonymous SNV T331T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 276369 chr13 97639154 97639154 G A OXGR1 Nonsynonymous SNV S287F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 276370 chr7 135080471 135080471 T C rs746142959 CNOT4 Synonymous SNV P345P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.705 276371 chr19 9525192 9525192 C T rs762234592 ZNF266 Nonsynonymous SNV A137T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 276372 chr18 55373793 55373793 C A rs34719006 ATP8B1 Nonsynonymous SNV D70Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 276373 chr20 62664277 62664277 C T rs763458789 PRPF6 Synonymous SNV I919I 0.001 0 0 0 1 0 0 0 0 0 0 0 21 276374 chr20 31627265 31627265 T G BPIFB6 Nonsynonymous SNV L338R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 276375 chr1 10689771 10689771 G C rs371329619 PEX14 Synonymous SNV T287T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.152 276376 chr20 57599054 57599054 A C rs762152234 TUBB1 Nonsynonymous SNV Q191P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.89 276377 chr20 34085689 34085689 G A rs770056831 CEP250 Nonsynonymous SNV A518T 0.003 0 0 0 3 0 0 0 0 0 0 0 20.3 276378 chr7 141853919 141853919 C T rs569896212 MGAM2 Nonsynonymous SNV A579V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 276379 chr20 39832982 39832982 C T rs200058524 ZHX3 Nonsynonymous SNV G192D 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 276380 chr7 39649485 39649485 C T rs867248999 YAE1 Nonsynonymous SNV P174L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 276381 chr7 148768344 148768371 CTCTCCCCACCGTGCCGGAGCCGGTGGG - ZNF786 A498Gfs*22 0 0 0 1 0 0 0.003 0 0 0 0 0 276382 chr7 149172213 149172213 C T rs143860643 ZNF746 Synonymous SNV G400G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.352 276383 chr18 72114055 72114055 G A rs140849087 DIPK1C Nonsynonymous SNV A221V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276384 chr8 145692481 145692481 G A rs1032293883 KIFC2 Synonymous SNV A106A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.16 276385 chr20 46279866 46279866 - GCAGCAGCAGCAG NCOA3 Frameshift insertion Q1264Afs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 276386 chr21 30419544 30419544 A G rs147602567 USP16 Nonsynonymous SNV Y637C 0 0.003 0 0 0 1 0 0 0 0 0 0 26 276387 chr1 118727760 118727760 T C SPAG17 Synonymous SNV K7K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.273 276388 chr21 33331260 33331260 C T rs201003721 HUNK Synonymous SNV P284P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.07 276389 chr14 23528395 23528395 G A rs768513975 ACIN1 Nonsynonymous SNV R603W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 276390 chr14 24040477 24040477 G A rs781359993 JPH4 Nonsynonymous SNV P488L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 276391 chr20 61299243 61299243 C T rs150375282 SLCO4A1 Nonsynonymous SNV T540M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.922 276392 chr20 61340928 61340928 G A rs146164731 NTSR1 Synonymous SNV E123E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.548 276393 chr20 61525481 61525481 T G rs749383319 DIDO1 Nonsynonymous SNV K880Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 276394 chr8 39626922 39626922 C T rs35697682 ADAM2 Nonsynonymous SNV G382R 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 276395 chr1 152080677 152080677 C G rs879075331 TCHH Nonsynonymous SNV E1672D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 276396 chr7 31682383 31682383 G A rs201060776 ITPRID1 Nonsynonymous SNV D467N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 20.3 276397 chr20 62323150 62323150 C T rs144002969 RTEL1 Nonsynonymous SNV P648L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.913 276398 chr14 39734609 39734609 A G MIA2 Nonsynonymous SNV K4R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.257 276399 chr14 42356773 42356773 G A rs150248310 LRFN5 Synonymous SNV E315E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.876 276400 chr8 55539158 55539158 G T rs201538234 RP1 Nonsynonymous SNV A906S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.448 276401 chr7 39990835 39990835 C T CDK13 Nonsynonymous SNV R199C 0 0 0 1 0 0 0.003 0 0 0 0 0 25 276402 chr14 51411092 51411092 C T rs140912135 PYGL Synonymous SNV K10K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.2 276403 chr8 61743070 61743070 G A rs794727150 CHD7 Nonsynonymous SNV V1238I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 276404 chr21 31587976 31587976 T C CLDN8 Nonsynonymous SNV M90V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 276405 chr22 19171074 19171074 - T rs375471950 CLTCL1 Frameshift insertion L1496Vfs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 276406 chr21 38460623 38460623 A G TTC3 Synonymous SNV R105R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.658 276407 chr8 8998687 8998687 T A PPP1R3B Nonsynonymous SNV T159S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276408 chr21 37444160 37444160 G A CBR1 Nonsynonymous SNV G149R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.647 276409 chr21 37618285 37618285 G A rs200971009 DOP1B Nonsynonymous SNV R1336Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 276410 chr22 24487617 24487617 C T rs751519723 CABIN1 Synonymous SNV D1152D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.02 276411 chr1 159923141 159923141 A G rs142119593 SLAMF9 Nonsynonymous SNV S117P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.5 276412 chr1 160793281 160793281 T C rs906927031 LY9 Nonsynonymous SNV S419P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.059 276413 chr1 161044118 161044118 G A rs371363602 NECTIN4 Nonsynonymous SNV S349L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 276414 chr22 26860535 26860535 G C rs116769827 HPS4 Nonsynonymous SNV S349C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.002 276415 chr22 26860536 26860536 A T rs114685298 HPS4 Nonsynonymous SNV S349T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.001 276416 chr22 26902371 26902371 T C rs79822310 TFIP11 Nonsynonymous SNV M109V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.721 276417 chr7 64388164 64388164 C T rs148564376 ZNF273 Nonsynonymous SNV A153V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 276418 chr21 45978168 45978168 G A rs202195023 KRTAP10-3 Nonsynonymous SNV P144L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 276419 chr21 44592273 44592273 C T rs148370855 CRYAA, CRYAA2 Synonymous SNV A135A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 276420 chr21 46909425 46909425 C T rs376627920 COL18A1 Nonsynonymous SNV P830L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 276421 chr1 170940976 170940976 G A rs767521963 MROH9 Nonsynonymous SNV A190T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 276422 chr9 111741742 111741742 C T rs752615814 CTNNAL1 Nonsynonymous SNV R307Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 276423 chr21 47422213 47422213 G A rs780032842 COL6A1 Synonymous SNV P716P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.403 276424 chr21 47662784 47662784 A G rs980287858 MCM3AP Synonymous SNV Y1786Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.253 276425 chr1 17296892 17296892 C T rs374780265 CROCC Nonsynonymous SNV R1866C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 276426 chr22 41633900 41633900 T G rs1032951636 CHADL Synonymous SNV A392A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.446 276427 chr21 47769714 47769714 G A rs780769402 PCNT Nonsynonymous SNV E324K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 276428 chr7 80378343 80378343 T A rs201228749 SEMA3C Synonymous SNV A589A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 12.83 276429 chr1 175372714 175372714 T G rs61731112 TNR Nonsynonymous SNV N180H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 276430 chr14 91681834 91681834 A G rs35511234 DGLUCY Synonymous SNV K550K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 276431 chr14 91805761 91805761 G A CCDC88C Nonsynonymous SNV H224Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22 276432 chr1 176915101 176915101 T C rs35946265 ASTN1 Nonsynonymous SNV K737R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 276433 chr1 178821849 178821849 G A rs200482313 ANGPTL1 Synonymous SNV T419T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.214 276434 chr14 93670039 93670039 C T rs114819010 GON7 Synonymous SNV P99P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 276435 chr9 121976297 121976297 C T rs373574674 BRINP1 Synonymous SNV P274P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 276436 chr22 38318070 38318070 C T MICALL1 Synonymous SNV L221L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.14 276437 chr22 38478769 38478769 C T rs200624792 SLC16A8 Nonsynonymous SNV A38T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 276438 chr7 95750588 95750588 G A rs768497028 SLC25A13 Nonsynonymous SNV A649V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.8 276439 chr14 95670513 95670513 G A rs760581464 CLMN Synonymous SNV G391G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.845 276440 chr14 95670617 95670617 C T rs35010297 CLMN Nonsynonymous SNV E357K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24.4 276441 chr8 144891031 144891031 C G rs765764471 SCRIB Nonsynonymous SNV Q621H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 276442 chr14 95921722 95921722 G A rs74079986 SYNE3 Nonsynonymous SNV R377C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 276443 chr14 95923644 95923644 C T rs74082143 SYNE3 Nonsynonymous SNV R220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.231 276444 chr14 96001624 96001624 G A rs28680410 GLRX5 Synonymous SNV Q66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.012 276445 chr22 18314679 18314681 TCC - rs374869878 MICAL3 E1000del 0.001 0 0 0 1 0 0 0 0 0 0 0 276446 chr14 96001666 96001666 C T rs28611006 GLRX5 Synonymous SNV H80H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.59 276447 chr14 97304113 97304113 T G rs61736727 VRK1 Nonsynonymous SNV S59A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.69 276448 chr22 25282605 25282605 C T rs116006218 SGSM1 Synonymous SNV Y560Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.873 276449 chr22 25289448 25289448 G A rs61741166 SGSM1 Synonymous SNV L607L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.71 276450 chr14 100125942 100125942 G T rs368769913 HHIPL1 Synonymous SNV S408S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.989 276451 chr22 19967376 19967376 T C rs758765047 ARVCF Nonsynonymous SNV Y429C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 276452 chr1 185269361 185269361 G A IVNS1ABP Nonsynonymous SNV R453C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 276453 chr14 100602266 100602266 C G rs34073270 EVL Nonsynonymous SNV P307A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.7 276454 chr22 43539180 43539180 G C rs746655127 MCAT Nonsynonymous SNV P59A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 276455 chr14 102466655 102466655 C T rs17540957 DYNC1H1 Synonymous SNV G1331G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 19.78 276456 chr1 196295874 196295874 T C KCNT2 Nonsynonymous SNV N700S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 276457 chr14 102974035 102974035 G A rs367676768 ANKRD9 Synonymous SNV R64R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 276458 chr1 197024888 197024888 A G F13B Synonymous SNV S437S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.147 276459 chr14 103554478 103554478 C T LBHD2 Synonymous SNV I42I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 276460 chr9 130482453 130482453 C A rs201723862 TTC16 Synonymous SNV R162R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 276461 chr22 23524098 23524098 C A rs553497469 BCR Synonymous SNV S317S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.288 276462 chr22 45723813 45723813 C T rs151076236 FAM118A Synonymous SNV L131L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.98 276463 chr14 104643424 104643424 C T rs113089140 KIF26A Synonymous SNV A1433A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 276464 chr14 104643460 104643460 G A rs73360251 KIF26A Synonymous SNV A1445A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.681 276465 chr14 105169754 105169754 C T rs553296905 INF2 Synonymous SNV D210D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.498 276466 chr9 131689394 131689394 C T rs201908722 PHYHD1 Synonymous SNV G37G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 276467 chr14 105865731 105865731 C T rs28710336 TEX22 Synonymous SNV S18S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 276468 chr14 105931109 105931109 C T rs36015555 MTA1 Synonymous SNV I481I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 276469 chr22 39019225 39019225 G C rs201824717 FAM227A Nonsynonymous SNV R304G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 276470 chrX 11139820 11139820 G A rs199575974 HCCS Nonsynonymous SNV E233K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.99 276471 chr15 34064301 34064301 C T rs8041960 RYR3 Synonymous SNV P2999P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 15.08 276472 chrX 11316910 11316910 C T AMELX Synonymous SNV P113P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.299 276473 chr15 34064302 34064302 A G rs10851894 RYR3 Nonsynonymous SNV I3000V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.604 276474 chr22 39413960 39413960 C T rs778936845 APOBEC3C Nonsynonymous SNV R122C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 276475 chr15 34080515 34080515 C T rs61996338 RYR3 Nonsynonymous SNV T3229M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 18.27 276476 chr15 34130045 34130045 C T rs369246005 RYR3 Nonsynonymous SNV T3950M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 276477 chrX 13803848 13803848 C A rs148707768 GPM6B Synonymous SNV G28G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.32 276478 chr22 31285325 31285325 G A rs532051710 LOC107985544 0.001 0 0 0 1 0 0 0 0 0 0 0 5.931 276479 chr22 40760969 40760969 G A rs119450941 ADSL Nonsynonymous SNV R426H 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 27.5 276480 chrX 15333584 15333584 C T rs143402682 ASB11 Synonymous SNV A48A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.19 276481 chrX 18954239 18954239 T C rs372850698 PHKA2 Synonymous SNV G357G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.713 276482 chr8 141569548 141569548 G T AGO2 Nonsynonymous SNV Q246K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.08 276483 chr9 136582557 136582557 G A rs757307357 SARDH Synonymous SNV F347F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 276484 chr22 43627777 43627777 C T rs150381076 SCUBE1 Nonsynonymous SNV D317N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 276485 chr9 139272026 139272026 G A rs748547992 SNAPC4 Nonsynonymous SNV P1418L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 276486 chr1 216011402 216011402 G T USH2A Nonsynonymous SNV T3101N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 276487 chr1 216019164 216019164 A G USH2A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 276488 chr1 217947768 217947768 T G rs370046365 SPATA17 Synonymous SNV P204P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.769 276489 chrX 67937817 67937817 C T rs200294485 STARD8 Nonsynonymous SNV T274M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 276490 chrX 69420171 69420171 C G rs976163247 DGAT2L6 Nonsynonymous SNV L112V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 276491 chr15 42379846 42379846 T A rs1049200886 PLA2G4D Nonsynonymous SNV N33I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 276492 chr22 46759949 46759949 G A rs141868181 CELSR1 Synonymous SNV N2993N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 276493 chrX 140993779 140993779 C G rs747108314 MAGEC1 Nonsynonymous SNV P197A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 276494 chrX 140993780 140993780 C T rs781337244 MAGEC1 Nonsynonymous SNV P197L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 276495 chrX 140993781 140993781 A T rs151047723 MAGEC1 Synonymous SNV P197P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 276496 chrX 140993797 140993797 - GC MAGEC1 Frameshift insertion R204Afs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 276497 chrX 140993802 140993803 CT - MAGEC1 S205Lfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 276498 chrX 140993807 140993807 T C rs140674361 MAGEC1 Nonsynonymous SNV F206S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 276499 chr22 50217867 50217867 G A rs149523607 BRD1 Synonymous SNV Y33Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.043 276500 chrX 83723864 83723864 T C rs753169624 HDX Synonymous SNV A231A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 276501 chr1 223285061 223285061 A G rs780256869 TLR5 Nonsynonymous SNV L438P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 276502 chr15 48500331 48500331 G A rs144128875 SLC12A1 Nonsynonymous SNV A139T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.53 276503 chrX 101912033 101912033 T C rs897582456 GPRASP1 Synonymous SNV S1064S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.852 276504 chr15 48703301 48703301 A G rs363847 FBN1 Synonymous SNV T2834T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.976 276505 chr15 49048167 49048167 C T rs74012142 CEP152 Nonsynonymous SNV C1093Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 32 276506 chrX 107439809 107439809 C T COL4A6 Nonsynonymous SNV G279S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 276507 chr15 51289605 51289605 C T rs75130619 AP4E1 Nonsynonymous SNV T735I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.772 276508 chr15 51773462 51773476 ACTTCCATTGCCATC - rs606231461 DMXL2 D1307_S1311del 0.001 0 0 0 1 0 0 0 0 0 0 0 276509 chr1 22817996 22817996 G A rs36115661 ZBTB40 Nonsynonymous SNV M267I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.3 276510 chr1 228509295 228509295 A G OBSCN Nonsynonymous SNV E4918G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 276511 chrX 128884526 128884526 G A rs143678145 XPNPEP2 Synonymous SNV S240S 0 0.003 0.007 0 0 1 0 2 0 0 1 0 4.576 276512 chr15 56924257 56924257 G C rs61739871 ZNF280D Synonymous SNV G780G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 276513 chr15 59373338 59373338 G A rs34086812 RNF111 Nonsynonymous SNV A718T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 276514 chr15 59510219 59510219 C T rs141570155 MYO1E Synonymous SNV R326R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 276515 chr1 232172596 232172596 A T TSNAX-DISC1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.116 276516 chr1 232172600 232172600 A T TSNAX-DISC1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.065 276517 chr1 232172603 232172603 T G TSNAX-DISC1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.914 276518 chrX 140994214 140994214 A G rs57528288 MAGEC1 Nonsynonymous SNV M342V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 276519 chr15 63908695 63908695 G A rs75055604 HERC1 Synonymous SNV Y4625Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.32 276520 chr15 65864614 65864614 G A rs151201949 HACD3 Nonsynonymous SNV G308R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 276521 chr15 67713651 67713651 A C rs147085480 IQCH Synonymous SNV P340P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.361 276522 chr15 67813685 67813685 G A rs563058829 C15orf61 Synonymous SNV S33S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 276523 chr15 68570794 68570794 C T rs35606342 FEM1B Synonymous SNV S13S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.52 276524 chrX 18919659 18919659 C T rs750628677 PHKA2 Nonsynonymous SNV G991R 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 28.2 276525 chrX 19026183 19026183 G A rs754391347 ADGRG2 Nonsynonymous SNV S456L 0.002 0 0 0 2 0 0 0 1 0 0 0 27 276526 chr15 69076842 69076842 C T rs765119486 ANP32A Synonymous SNV P140P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 276527 chr15 69706682 69706682 G A rs534906417 LOC145694 0.001 0 0 0 1 0 0 0 0 0 0 0 8.978 276528 chr15 72040835 72040835 G A rs12439065 THSD4 Nonsynonymous SNV D413N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 276529 chr1 24394714 24394714 G A rs200672813 MYOM3 Synonymous SNV D1098D 0 0 0.007 0 0 0 0 2 0 0 0 0 7.354 276530 chr9 96846837 96846837 C T rs370500898 PTPDC1 Nonsynonymous SNV R9W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 276531 chr9 98232132 98232132 C T rs778627715 PTCH1 Nonsynonymous SNV E552K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.4 276532 chr1 1229001 1229001 C G rs746386646 ACAP3 Nonsynonymous SNV E816D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 276533 chr15 75648650 75648650 C T rs3803466 MAN2C1 Nonsynonymous SNV V861I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 276534 chr15 75652963 75652963 C G rs77932613 MAN2C1 Synonymous SNV T410T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 276535 chr15 75893532 75893532 G A rs78069432 SNUPN Nonsynonymous SNV P236S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 276536 chr15 76494560 76494560 G A rs376055659 TMEM266 Nonsynonymous SNV D326N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 276537 chr15 78393899 78393899 A G rs186449076 SH2D7 Nonsynonymous SNV K435R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 276538 chrX 119249754 119249754 G A rs781806029 RHOXF1 Nonsynonymous SNV H7Y 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 276539 chrX 69458200 69458200 G A rs756595258 AWAT1 Nonsynonymous SNV R200H 0.002 0 0 0 2 0 0 0 1 0 0 0 23.5 276540 chrX 69652930 69652930 G A rs147539047 GDPD2 Nonsynonymous SNV M459I 0.002 0 0.003 0 2 0 0 1 1 0 0 0 0.126 276541 chrX 129765508 129765508 C T rs147547500 ENOX2 Nonsynonymous SNV E488K 0.002 0 0 0 2 0 0 0 1 0 0 0 23.2 276542 chr1 3328557 3328557 C T rs367734333 PRDM16 Nonsynonymous SNV S599L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.5 276543 chr15 85525523 85525523 C T rs181576780 PDE8A Nonsynonymous SNV R44W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 276544 chrY 22942859 22942859 C T rs758884927 RPS4Y2 Stop gain R245X 0.002 0 0 0 2 0 0 0 1 0 0 0 36 276545 chrX 119573071 119573071 C T rs144140265 LAMP2 Nonsynonymous SNV V391I 0.002 0 0 0 2 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 19.23 276546 chr15 86807670 86807670 G T rs994140429 AGBL1 Nonsynonymous SNV R423M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276547 chr1 10338138 10338138 C T rs767973481 KIF1B Nonsynonymous SNV R372W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 276548 chr1 1268371 1268371 A G rs146208824 TAS1R3 Nonsynonymous SNV N449S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.044 276549 chr1 27942276 27942276 G A rs142998887 FGR Synonymous SNV D254D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 276550 chr1 31192039 31192039 G T rs113950551 MATN1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.024 276551 chr1 2489875 2489875 G C rs199878941 TNFRSF14 Nonsynonymous SNV S91T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.681 276552 chr9 130660239 130660239 - G rs780174261 ST6GALNAC6 Frameshift insertion S8Qfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 276553 chr1 2700306 2700306 C T rs1039066083 TTC34 Nonsynonymous SNV E692K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 276554 chr1 3329209 3329209 C T rs372189819 PRDM16 Synonymous SNV N816N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.01 276555 chr19 46973411 46973411 G A rs368577488 PNMA8A Synonymous SNV P294P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.054 276556 chrX 153629294 153629294 T A rs189433610 RPL10 Nonsynonymous SNV L194H 0.002 0 0 0 2 0 0 0 1 0 0 0 3.207 276557 chr1 3334510 3334510 C T rs747152216 PRDM16 Nonsynonymous SNV P937L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 276558 chr1 16258746 16258746 C T rs528055288 SPEN Nonsynonymous SNV P2004L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 276559 chr8 75157404 75157404 T G JPH1 Nonsynonymous SNV D422A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.02 276560 chr9 131761989 131761989 C T rs143565564 NUP188 Nonsynonymous SNV R1250C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 276561 chr1 3624334 3624334 G A rs150280219 TP73 Synonymous SNV T87T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.15 276562 chr1 6662788 6662788 G A KLHL21 Synonymous SNV A30A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 276563 chr1 10132175 10132175 G A rs777211373 UBE4B Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.245 276564 chr1 10211536 10211536 G A rs140232669 UBE4B Nonsynonymous SNV R819Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 276565 chr1 18808777 18808777 T C KLHDC7A Synonymous SNV N434N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 276566 chr1 19564529 19564529 G A EMC1 Synonymous SNV S376S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.3 276567 chr1 19638598 19638598 G A AKR7A2 Synonymous SNV R7R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 276568 chr19 49938503 49938503 A G SLC17A7 Nonsynonymous SNV I119T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 276569 chr16 778408 778408 A G rs549138614 HAGHL Synonymous SNV P127P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.43 276570 chr9 102677573 102677573 C T STX17 Stop gain Q18X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 276571 chr1 22157579 22157579 C T rs778722013 HSPG2 Nonsynonymous SNV G3857D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 276572 chr10 114203316 114203316 C T ZDHHC6 Nonsynonymous SNV A102T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 276573 chr9 106875751 106875751 A T rs77050953 SMC2 Nonsynonymous SNV Y470F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 276574 chr1 46491464 46491464 G A rs752443016 MAST2 Synonymous SNV V632V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 276575 chr10 105141541 105141541 A G rs199613455 TAF5 Nonsynonymous SNV T493A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.56 276576 chr1 53675923 53675923 C T rs375968699 CPT2 Nonsynonymous SNV R193C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 276577 chr10 61815712 61815712 T C rs12261793 ANK3 Nonsynonymous SNV I881V 0.004 0.003 0 0 5 1 0 0 0 0 0 0 Benign 11.6 276578 chr1 55622671 55622671 A C USP24 Nonsynonymous SNV L466V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 276579 chr16 4016345 4016345 C T rs144864117 ADCY9 Nonsynonymous SNV V1165I 0.003 0 0 0 3 0 0 0 0 0 0 0 8.616 276580 chr10 70405467 70405467 A G TET1 Nonsynonymous SNV H994R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.098 276581 chr1 6270001 6270001 G A RNF207 Synonymous SNV R257R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.328 276582 chr10 71007326 71007326 C T rs146608877 HKDC1 Synonymous SNV G414G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.056 276583 chr1 24137286 24137286 G A rs200189529 HMGCL Synonymous SNV Y167Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.98 276584 chr1 34123592 34123592 C T rs769502436 CSMD2 Synonymous SNV K1467K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.14 276585 chr10 123970659 123970659 C T rs375927409 TACC2 Nonsynonymous SNV P318L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.88 276586 chr16 11824566 11824566 C G rs142300268 TXNDC11 Nonsynonymous SNV V212L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 276587 chr16 15131989 15131989 G A rs764551545 NTAN1 Nonsynonymous SNV H173Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.842 276588 chr1 70505059 70505059 C T rs149679977 LRRC7 Synonymous SNV P1185P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 276589 chr1 74621445 74621445 G A rs199536965 LRRIQ3 Nonsynonymous SNV R227C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 276590 chr1 27023675 27023677 TCG - rs762629447 ARID1A S265del 0.001 0 0 0 1 0 0 0 0 0 0 0 276591 chr1 27120632 27120632 A G PIGV Nonsynonymous SNV H36R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 276592 chr1 27278570 27278570 C T rs139183337 KDF1 Nonsynonymous SNV R101H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 276593 chr1 8421826 8421826 C T rs760579129 RERE Synonymous SNV T117T 0 0 0.007 0 0 0 0 2 0 0 0 0 18.6 276594 chr10 134671276 134671276 C T CFAP46 Nonsynonymous SNV E1798K 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 276595 chr1 47284368 47284368 G A rs143680556 CYP4B1 Nonsynonymous SNV R311H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.064 276596 chr1 47882300 47882300 T C rs751018669 FOXE3 Nonsynonymous SNV F105L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 276597 chr1 53742559 53742559 G T LRP8 Nonsynonymous SNV R230S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 276598 chr9 86570555 86570555 C T rs373193521 C9orf64 Nonsynonymous SNV G113E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 276599 chr1 93680473 93680473 C G rs761037021 CCDC18 Nonsynonymous SNV Q556E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 276600 chr9 90501923 90501923 A G rs375847520 SPATA31E1 Nonsynonymous SNV R841G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 276601 chr1 9714340 9714340 C T rs139847517 PIK3CD-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 0.22 276602 chr1 55560963 55560963 G T USP24 Synonymous SNV V2056V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 276603 chr20 10629319 10629319 G T rs760498012 JAG1 Nonsynonymous SNV H483N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 276604 chr10 29811361 29811361 T C SVIL Nonsynonymous SNV K697E 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 276605 chr10 3175425 3175425 C T rs372641882 PFKP Synonymous SNV T380T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.87 276606 chr9 98774595 98774595 C T rs138069275 ERCC6L2 Stop gain R1266X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 276607 chr16 67904742 67904742 C T rs34777458 NUTF2 Synonymous SNV L104L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 276608 chr16 68011654 68011654 G C rs57136942 DPEP3 Nonsynonymous SNV L279V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 276609 chr16 68156198 68156198 C T rs62636652 NFATC3 Nonsynonymous SNV R138W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.8 276610 chr16 68225401 68225401 A G rs62636649 NFATC3 Synonymous SNV P943P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.492 276611 chr1 70887329 70887329 C T rs1021122585 CTH Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 276612 chr9 139935146 139935146 G A rs143020299 NPDC1 Synonymous SNV S200S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 276613 chr16 69727734 69727734 A G rs150642075 NFAT5 Nonsynonymous SNV M1111V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.99 276614 chr16 69786207 69786207 T A rs113614011 NOB1 Synonymous SNV A88A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.26 276615 chr1 75037753 75037753 C T rs200280160 ERICH3 Nonsynonymous SNV G1214E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 276616 chr16 69964087 69964087 G A rs77786756 WWP2 Synonymous SNV E18E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 276617 chr20 23334855 23334855 T A NXT1 Nonsynonymous SNV S59R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 276618 chr1 55118928 55118928 A G rs749990498 MROH7 Nonsynonymous SNV K110R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 276619 chr16 70690573 70690573 C T rs112188979 IL34 Synonymous SNV V77V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 276620 chr1 55518036 55518036 C T rs200856421 PCSK9 Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.96 276621 chr1 82409186 82409186 G A rs1003335830 ADGRL2 Nonsynonymous SNV A311T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 276622 chr1 57417784 57417784 G A rs572299334 C8B Synonymous SNV S201S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.885 276623 chr1 85405238 85405238 T G rs6704203 MCOLN2 Nonsynonymous SNV K370Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.2 276624 chr16 75267766 75267766 T C rs144649739 BCAR1 Nonsynonymous SNV K483R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.1 276625 chr16 75269729 75269729 C T rs112060276 BCAR1 Synonymous SNV P146P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.614 276626 chr16 75300641 75300641 C T rs186575738 BCAR1 Nonsynonymous SNV G13S 0.001 0 0 0 1 0 0 0 0 0 0 0 12 276627 chr1 62910934 62910936 AAC - rs763262538 USP1 T363del 0.001 0 0 0 1 0 0 0 0 0 0 0 276628 chr16 75575346 75575346 G A rs769897831 TMEM231 Synonymous SNV T277T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 276629 chr16 80574665 80574665 A C rs112650003 DYNLRB2 Nonsynonymous SNV N2H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.464 276630 chr9 22029468 22029468 A G CDKN2B-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.548 276631 chr16 81050948 81050948 C T rs764092622 CENPN Nonsynonymous SNV H79Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 276632 chr20 19193520 19193525 CGCCGC - rs761595384 SLC24A3 R19_R20del 0.001 0 0 0 1 0 0 0 0 0 0 0 276633 chr20 40050123 40050123 T C rs772501985 CHD6 Nonsynonymous SNV S1718G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 276634 chr16 81397494 81397494 C T rs150102659 GAN Synonymous SNV Y394Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.238 276635 chr9 35093547 35093547 T C PIGO Synonymous SNV T270T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.941 276636 chr20 42203644 42203644 G A rs56150807 SGK2 Synonymous SNV L291L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.029 276637 chr20 20610063 20610063 G A rs146624131 RALGAPA2 Nonsynonymous SNV R393W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 276638 chr16 83378487 83378487 T C rs145120824 CDH13 Synonymous SNV D180D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.356 276639 chr16 84212628 84212628 G C rs4150177 TAF1C Synonymous SNV V511V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.099 276640 chr16 84270650 84270650 C T rs61743417 KCNG4 Nonsynonymous SNV A148T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.638 276641 chr16 84472775 84472775 G T rs80000075 ATP2C2 Synonymous SNV L179L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 4.346 276642 chr16 84476157 84476157 C T rs116185386 ATP2C2 Synonymous SNV A300A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 276643 chr1 109439526 109439526 C T rs764931658 GPSM2 Nonsynonymous SNV R33C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 276644 chr16 84520382 84520382 C T rs77677332 MEAK7 Synonymous SNV S271S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.03 276645 chr16 84691094 84691094 C T rs116680199 KLHL36 Synonymous SNV H227H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 276646 chr16 85011548 85011548 C T rs13334011 ZDHHC7 Nonsynonymous SNV V201I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 276647 chr16 85024141 85024141 G C rs146264138 ZDHHC7 Synonymous SNV S28S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.789 276648 chr16 85024144 85024144 C T rs139426376 ZDHHC7 Synonymous SNV S27S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 276649 chr16 85100792 85100792 G A rs141104255 KIAA0513 Nonsynonymous SNV G39R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 276650 chr16 85682198 85682198 G A rs75392774 GSE1 Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 276651 chr16 85688484 85688484 C A rs142285041 GSE1 Synonymous SNV T124T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 276652 chr16 87350831 87350831 G A rs59568599 C16orf95 Synonymous SNV S6S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.907 276653 chr10 73476071 73476071 G A rs185838726 C10orf105 Synonymous SNV L8L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.591 276654 chr16 88502882 88502882 A C rs141776185 ZNF469 Nonsynonymous SNV M3002L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.025 276655 chrX 66765159 66765179 GCAGCAGCAGCAGCAGCAGCA - AR Q74_Q80del 0.002 0 0.007 0 2 0 0 2 0 0 1 0 276656 chr16 88599953 88599953 C T rs375798810 ZFPM1 Synonymous SNV Y529Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.159 276657 chr16 88713213 88713213 C G rs2228472 CYBA Synonymous SNV L79L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.54 276658 chr1 114483515 114483515 C T rs368795005 HIPK1 Synonymous SNV S170S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.19 276659 chr16 88782018 88782018 C G rs73262683 PIEZO1 Nonsynonymous SNV E2521Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 276660 chr1 103548439 103548439 T A COL11A1 Nonsynonymous SNV N66Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 276661 chr16 88792974 88792974 G T PIEZO1 Synonymous SNV T1259T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 276662 chr20 5948142 5948142 A G rs762684147 MCM8 Synonymous SNV E312E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.809 276663 chr20 44469591 44469591 G C SNX21 Nonsynonymous SNV G254A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276664 chr20 44574700 44574700 C T rs192512950 PCIF1 Synonymous SNV D458D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 276665 chr11 123485512 123485512 G A rs770363124 GRAMD1B Nonsynonymous SNV V580M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 276666 chr16 88952346 88952346 A C rs897957 LOC101927793 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.292 276667 chr16 89006607 89006607 - GGGT rs113041381 LOC100129697 Frameshift insertion H5Wfs*410 0.001 0 0 0 1 0 0 0 0 0 0 0 276668 chr16 89016879 89016946 TCCCCCGGACCGGCACCGCCACAGAGGGTCAGGAGTGTTGGCACCTGTCTTCCGGGTCAGTTCACCCG - LOC100129697 R120Wfs*271 0.001 0 0 0 1 0 0 0 0 0 0 0 276669 chr16 89245934 89245934 G A rs76549400 CDH15 Synonymous SNV P51P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.62 276670 chr1 145542259 145542259 A G rs781791678 ITGA10 Nonsynonymous SNV E1019G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 276671 chr16 89293430 89293430 G A rs143730227 ZNF778 Nonsynonymous SNV G217E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 276672 chr16 89351654 89351654 C G rs74033734 ANKRD11 Synonymous SNV T432T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.686 276673 chr16 89357215 89357215 G A ANKRD11 Nonsynonymous SNV P140L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 276674 chr16 89390908 89390908 G A rs80051617 LOC100287036 Nonsynonymous SNV S98N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.043 276675 chr16 89623301 89623301 A G rs35749032 SPG7 Nonsynonymous SNV N730D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.37 276676 chr1 150123198 150123198 - CCCC PLEKHO1 Frameshift insertion N43Tfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 276677 chr10 95660719 95660719 C T rs780842707 SLC35G1 Synonymous SNV T190T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 276678 chr16 89712379 89712379 C T rs61747591 CHMP1A Synonymous SNV A222A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.963 276679 chr16 89724661 89724661 G T rs114844459 SPATA33 Stop gain E15X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 276680 chr20 61443885 61443885 C A OGFR Synonymous SNV G306G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.209 276681 chr20 51802198 51802198 C T rs183040578 TSHZ2 Nonsynonymous SNV A5V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.84 276682 chr16 89985693 89985709 ACTTCTGGGCTCCCTCA - rs764964218 MC1R L11Hfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 276683 chr16 90029803 90029803 G A rs77908930 DEF8 Synonymous SNV P258P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.38 276684 chr16 90102901 90102901 G A rs143541257 GAS8 Synonymous SNV T29T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 276685 chr10 96005764 96005764 G A rs752538893 PLCE1 Nonsynonymous SNV D520N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.3 276686 chr20 62193999 62193999 C T rs200373931 HELZ2 Nonsynonymous SNV R1490Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 276687 chr1 152287050 152287050 G C rs777594283 FLG Nonsynonymous SNV H104Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.926 276688 chr17 729232 729232 G A rs61731765 NXN Synonymous SNV N41N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.773 276689 chr1 116311147 116311147 A T CASQ2 Nonsynonymous SNV L6M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 276690 chr1 117631602 117631602 G A TTF2 Synonymous SNV L780L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 276691 chr1 120284520 120284520 T C rs755664482 PHGDH Synonymous SNV N403N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 276692 chrX 128880244 128880244 G A rs935586572 XPNPEP2 Nonsynonymous SNV V111I 0 0 0 2 0 0 0.005 0 0 0 0 1 21.3 276693 chr1 145563011 145563011 G A rs148620847 ANKRD35 Nonsynonymous SNV G810E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 276694 chr1 155166872 155166872 G A rs372583353 THBS3 Nonsynonymous SNV R758C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 276695 chr21 33057984 33057984 A G SCAF4 Synonymous SNV P687P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 276696 chr1 151131444 151131444 C T rs751661522 TNFAIP8L2 Nonsynonymous SNV R91C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 276697 chr1 151131601 151131601 T A rs752229979 TNFAIP8L2 Nonsynonymous SNV I143N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 276698 chr1 151552161 151552161 G A rs754728864 TUFT1 Nonsynonymous SNV A296T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.283 276699 chr1 151687079 151687079 C T rs372937834 CELF3 Synonymous SNV T26T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 276700 chr1 151820331 151820331 G A rs767071162 THEM5 Nonsynonymous SNV P195S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 276701 chr1 152085340 152085342 TCT - rs753270439 TCHH E117del 0.001 0 0 0 1 0 0 0 0 0 0 0 276702 chr11 14666439 14666439 C T rs373501111 PDE3B Nonsynonymous SNV P273L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 276703 chrX 2998952 2998952 A G ARSF Nonsynonymous SNV R102G 0.002 0 0 2 2 0 0.005 0 1 0 0 1 0.026 276704 chr21 42830517 42830517 G T MX1 Nonsynonymous SNV V446L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.134 276705 chr1 155385602 155385602 G A rs145101994 ASH1L Nonsynonymous SNV P1981S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 276706 chr1 161068800 161068800 C G rs748056507 KLHDC9 Nonsynonymous SNV R159G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 276707 chr21 43994942 43994942 C T SLC37A1 Nonsynonymous SNV P480S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 276708 chr1 156593843 156593843 C G rs201478982 HAPLN2 Nonsynonymous SNV D110E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 276709 chr1 161928391 161928391 G A rs144131817 ATF6 Nonsynonymous SNV A654T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 276710 chr1 156641908 156641908 G A rs201918051 NES Nonsynonymous SNV P691L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.879 276711 chr17 7366370 7366372 TCC - rs760656085 ZBTB4 E643del 0.002 0 0 0 2 0 0 0 0 0 0 0 276712 chr1 158225885 158225885 C T rs760419872 CD1A Synonymous SNV D128D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.645 276713 chr21 46897667 46897667 G A rs76547444 COL18A1 Nonsynonymous SNV G517S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.97 276714 chr1 171310711 171310711 G A rs368336488 FMO4 Synonymous SNV Q470Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.042 276715 chr21 47566194 47566194 C G FTCD Nonsynonymous SNV K318N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 276716 chr21 47571578 47571578 C A rs760709342 FTCD, FTCD-AS1 Nonsynonymous SNV P44T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 276717 chr11 113934113 113934113 G A rs775180791 ZBTB16 Nonsynonymous SNV G31R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 276718 chr21 47808741 47808741 C T rs139383288 PCNT Synonymous SNV I1065I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.38 276719 chr21 47811184 47811184 G A rs145055342 PCNT Nonsynonymous SNV R1252Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.002 276720 chr11 299315 299315 T C rs770628336 IFITM5 Nonsynonymous SNV Y59C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 276721 chr11 116692449 116692449 G A rs6413456 APOA4 Synonymous SNV L109L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.033 276722 chr1 177936959 177936959 C T rs199929410 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R53H 0.003 0 0 0 3 0 0 0 0 0 0 0 6.54 276723 chr11 117252491 117252491 C G rs59763167 CEP164 Nonsynonymous SNV P498R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.35 276724 chr11 117279712 117279712 C T rs61995733 CEP164 Nonsynonymous SNV P1242L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.015 276725 chr10 14961792 14961792 T C rs143782439 DCLRE1C Synonymous SNV P252P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.024 276726 chr11 118068788 118068788 G T JAML Synonymous SNV V271V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.68 276727 chr1 160832429 160832429 G A rs16832484 CD244 Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.788 276728 chr1 160920372 160920372 G A rs12094026 ITLN2 Synonymous SNV L191L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.061 276729 chr1 160920431 160920431 T C rs12090411 ITLN2 Nonsynonymous SNV Q171R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.039 276730 chr11 118773574 118773574 G A rs773072050 BCL9L Nonsynonymous SNV T293M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.03 276731 chr1 181058617 181058617 C G rs548699165 IER5 Synonymous SNV P193P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.202 276732 chr1 161772014 161772014 C T rs16847240 ATF6 Synonymous SNV S287S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.41 276733 chr1 161967937 161967937 G C rs35444039 OLFML2B Nonsynonymous SNV S385R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.738 276734 chr22 21385425 21385425 T A rs149690673 SLC7A4 Nonsynonymous SNV E226V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 276735 chr10 21804909 21804911 TGT - rs779249916 SKIDA1 N614del 0.001 0 0 0 1 0 0 0 0 0 0 0 276736 chr22 22599739 22599739 G T VPREB1 Nonsynonymous SNV R142L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 276737 chr11 123893881 123893881 C T rs754369948 OR10G9 Synonymous SNV H54H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.812 276738 chr1 197021922 197021922 A G F13B Nonsynonymous SNV I466T 0.002 0 0 0 2 0 0 0 0 0 0 0 28 276739 chr17 18064634 18064634 C T MYO15A Synonymous SNV D3130D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 276740 chr22 24036940 24036940 T C rs1049213485 GUSBP11 0 0 0.003 0 0 0 0 1 0 0 0 0 2.083 276741 chr17 18150094 18150094 C T rs935917289 FLII Synonymous SNV K900K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.28 276742 chr10 29137204 29137204 G A C10orf126 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 276743 chr22 24583716 24583716 A C rs763787252 SUSD2 Nonsynonymous SNV N690T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 276744 chr22 30689759 30689759 G C TBC1D10A Nonsynonymous SNV L318V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 276745 chr11 479108 479108 G A rs201233818 PTDSS2 Nonsynonymous SNV V131M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 276746 chr11 48171695 48171695 A - PTPRJ Q1033Rfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 276747 chr10 46965119 46965119 G A LOC102724488, SYT15 Nonsynonymous SNV P160S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276748 chr11 48285471 48285471 G A rs909331447 OR4X1 Nonsynonymous SNV S20N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276749 chr22 18021595 18021595 C A CECR2 Nonsynonymous SNV S488Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276750 chr22 31487315 31487315 C T rs764513354 SMTN Nonsynonymous SNV R492C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 276751 chr1 182775588 182775588 C A NPL Nonsynonymous SNV P32Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.543 276752 chr11 12540037 12540037 T C rs766724485 PARVA Synonymous SNV L339L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.098 276753 chr1 197071654 197071654 C A rs148425392 ASPM Nonsynonymous SNV V2243L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.28 276754 chr1 197390164 197390164 T C rs373229699 CRB1 Synonymous SNV S290S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.609 276755 chr11 134093805 134093805 C T rs374718859 NCAPD3 Nonsynonymous SNV G6S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.06 276756 chr17 34186013 34186013 G A rs116659120 HEATR9 Nonsynonymous SNV S233L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 276757 chr17 35896225 35896225 A C rs376684826 SYNRG Synonymous SNV V968V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.449 276758 chr11 129725639 129725639 C T rs375699692 TMEM45B Nonsynonymous SNV P141L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.91 276759 chr1 213037070 213037070 G T rs746482522 FLVCR1 Stop gain G248X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 41 276760 chr10 134999738 134999738 G A rs116684467 KNDC1 Nonsynonymous SNV A296T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.023 276761 chr1 223176376 223176376 A G DISP1 Nonsynonymous SNV Y546C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 276762 chr1 203138086 203138086 C T rs202014939 MYBPH Synonymous SNV K455K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 276763 chr22 46068018 46068018 C T rs767405988 ATXN10 Synonymous SNV A25A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 276764 chr10 135367823 135367823 G C rs11101822 SYCE1 Nonsynonymous SNV P310A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 1.183 276765 chr11 18733801 18733801 T C rs546203244 IGSF22 Synonymous SNV A742A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.868 276766 chr22 46760545 46760545 G A rs756948030 CELSR1 Synonymous SNV R2881R 0 0 0.003 0 0 0 0 1 0 0 0 0 13 276767 chr1 207314485 207314485 T C C4BPA Synonymous SNV H436H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 276768 chr1 207639892 207639892 C T rs150906379 CR2 Nonsynonymous SNV P27L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 276769 chr22 50211930 50211930 C T rs527670270 BRD1 Nonsynonymous SNV R490K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.806 276770 chr1 209788701 209788701 G A rs750121518 LAMB3 Nonsynonymous SNV A1145V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.2 276771 chr11 33047243 33047243 G A rs79199473 DEPDC7 Nonsynonymous SNV V38I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.148 276772 chr10 79799959 79799959 C G RPS24 Nonsynonymous SNV Q131E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.65 276773 chr11 56086553 56086553 G C rs150576458 OR8K3 Nonsynonymous SNV M257I 0.002 0 0 0 2 0 0 0 0 0 0 0 17 276774 chr10 85984163 85984163 C T rs545778918 LRIT2 Nonsynonymous SNV R273Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.3 276775 chr2 10206077 10206077 C T rs182884229 CYS1 Nonsynonymous SNV A109T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 276776 chr1 236205443 236205443 G C NID1 Nonsynonymous SNV T301S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276777 chr17 42426884 42426884 G A rs148531161 GRN Nonsynonymous SNV V77I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.501 276778 chr1 225238080 225238080 T C rs934068469 DNAH14 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 276779 chr1 225428362 225428362 G A rs184912210 DNAH14 Nonsynonymous SNV V2196M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.8 276780 chr2 108994809 108994809 A T rs769561354 SULT1C4 Nonsynonymous SNV M6L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.933 276781 chr10 96797011 96797011 T G CYP2C8 Synonymous SNV L347L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.187 276782 chr1 244724174 244724174 G A rs752079100 CATSPERE Nonsynonymous SNV V261I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 276783 chr10 99139448 99139448 G A RRP12 Nonsynonymous SNV A438V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 276784 chr11 46917558 46917558 C T rs780738790 LRP4 Nonsynonymous SNV G354S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.99 276785 chr2 127815133 127815133 C T rs148945502 BIN1 Synonymous SNV P318P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.92 276786 chr1 228560023 228560023 C T rs202143056 OBSCN Nonsynonymous SNV R7182C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 276787 chr2 141108442 141108442 G C rs139778530 LRP1B Nonsynonymous SNV T3939S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.44 276788 chr2 141625834 141625834 - A rs758437148 LRP1B 0 0 0.01 0 0 0 0 3 0 0 0 0 276789 chr2 145157220 145157220 C T rs141781307 ZEB2 Nonsynonymous SNV G488S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.84 276790 chr2 152107855 152107855 A G rs751809272 RBM43 Synonymous SNV T213T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.147 276791 chr11 57886874 57886874 T C rs1000869196 OR9I1 Nonsynonymous SNV M15V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.3 276792 chr17 61271418 61271418 G A rs1017318392 TANC2 Nonsynonymous SNV R93H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 276793 chr1 233344370 233344376 CAAAATA - PCNX2 I918Ffs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 276794 chr1 233464545 233464545 G C rs79952117 MAP3K21 Synonymous SNV V257V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 276795 chr1 233750022 233750022 C T rs536443756 KCNK1 Synonymous SNV V35V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 276796 chr17 62079292 62079292 C T rs570812200 PRR29 Nonsynonymous SNV T223M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 276797 chr17 62121542 62121542 G T rs139229826 ERN1 Nonsynonymous SNV L914M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 276798 chr17 64224155 64224155 T C rs138225887 APOH Nonsynonymous SNV N75S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.413 276799 chr1 237619942 237619942 G A rs16835270 RYR2 Nonsynonymous SNV V507I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 21.8 276800 chr17 71281904 71281904 C T rs370748582 CDC42EP4 Nonsynonymous SNV A246T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276801 chr17 71282032 71282032 G A rs374130662 CDC42EP4 Nonsynonymous SNV A203V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 276802 chr2 169801230 169801230 C T rs376255350 ABCB11 Nonsynonymous SNV R832H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 276803 chr17 72439983 72439983 G A rs531943666 GPRC5C Nonsynonymous SNV G360R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 276804 chrX 49114954 49114954 G A FOXP3 Synonymous SNV N3N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.905 276805 chr17 72477930 72477930 G A rs552685249 CD300A Synonymous SNV K131K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.049 276806 chr2 170505754 170505754 C G rs138449065 CCDC173 Nonsynonymous SNV E419Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 276807 chr2 178096406 178096406 G C rs141363120 NFE2L2 Nonsynonymous SNV L279V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 276808 chrX 70472537 70472537 G A rs773502587 ZMYM3 Nonsynonymous SNV P190L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 276809 chr2 179226455 179226455 G A OSBPL6 Synonymous SNV K369K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 276810 chr1 248085077 248085077 C G rs141587311 OR2T8 Nonsynonymous SNV A253G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.209 276811 chr10 94688131 94688131 A G rs771002716 EXOC6 Synonymous SNV K285K 0 0 0 2 0 0 0.005 0 0 0 0 0 8.921 276812 chr2 27352623 27352623 - TACT rs772621502 ABHD1 Frameshift insertion V209Tfs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 276813 chr10 99133489 99133489 C G rs942744735 RRP12 Nonsynonymous SNV W523C 0 0 0 2 0 0 0.005 0 0 0 0 0 27 276814 chr2 18741541 18741541 C G rs1045062326 RDH14 Nonsynonymous SNV E100Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.471 276815 chrX 119387828 119387828 C T rs201211344 ZBTB33 Synonymous SNV T186T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.984 276816 chr2 189901388 189901388 T C rs140952583 COL5A2 Nonsynonymous SNV D1356G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 276817 chr2 39542485 39542485 G A rs373839840 MAP4K3 Synonymous SNV N321N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 276818 chr11 65392886 65392886 C T rs759538283 PCNX3 Nonsynonymous SNV R1014W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 276819 chr2 196912168 196912170 ATC - DNAH7 D102del 0 0 0.003 0 0 0 0 1 0 0 0 0 276820 chr2 42990088 42990088 C T rs149479883 OXER1 Nonsynonymous SNV G411D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.232 276821 chr17 78092063 78092063 G C rs1042397 GAA Synonymous SNV G851G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.792 276822 chr2 44128477 44128477 G A rs763466043 LRPPRC Nonsynonymous SNV A1184V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 276823 chrX 135957692 135957692 C T rs146041009 RBMX Nonsynonymous SNV R90H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 276824 chr2 202052445 202052445 C A rs752483713 CASP10 Nonsynonymous SNV L122M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 276825 chr2 202139643 202139643 G A CASP8 Synonymous SNV S194S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 276826 chr2 202974397 202974397 A G KIAA2012 Synonymous SNV G512G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 276827 chr17 79517482 79517482 A G rs149199568 FAAP100 Synonymous SNV P346P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276828 chr17 79880484 79880484 C T rs149311081 MAFG Synonymous SNV S162S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 276829 chr2 56144874 56144874 C T rs374747361 EFEMP1 Nonsynonymous SNV R148H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 276830 chr17 79891156 79891156 G A rs35589179 PYCR1 Synonymous SNV T267T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.38 276831 chr2 25384485 25384485 C T POMC Nonsynonymous SNV R90H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 276832 chr17 80019794 80019794 C T rs74441987 DUS1L Synonymous SNV E192E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 276833 chr11 67164798 67164798 T A RAD9A Nonsynonymous SNV S265T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 276834 chr17 80059719 80059719 C T rs200933911 CCDC57 Nonsynonymous SNV D483N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.369 276835 chr17 80280838 80280838 C T rs142726491 SECTM1 Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 276836 chrX 153596066 153596066 G A rs2073470 FLNA Synonymous SNV P221P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.577 276837 chr17 80861345 80861345 G A rs377718092 TBCD Nonsynonymous SNV A599T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 276838 chr2 27880530 27880530 T C SUPT7L Synonymous SNV K7K 0.002 0 0 0 2 0 0 0 0 0 0 0 1.647 276839 chr18 2908956 2908956 C T rs116613049 EMILIN2 Nonsynonymous SNV P893L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.8 276840 chr11 58207430 58207430 G A rs920086354 OR5B12 Synonymous SNV S65S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.769 276841 chr18 9255572 9255572 T C rs34365080 ANKRD12 Synonymous SNV D746D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 276842 chr18 9255959 9255959 C T rs61729632 ANKRD12 Synonymous SNV D875D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 276843 chr11 59608651 59608651 T C CBLIF Nonsynonymous SNV I220V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 276844 chr2 39996950 39996950 T C THUMPD2 Nonsynonymous SNV N191S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 276845 chr11 5989649 5989649 A G rs371328060 OR56A5 Nonsynonymous SNV W26R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.542 276846 chr18 12310964 12310964 C T rs34553814 TUBB6 Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 276847 chr2 86258661 86258661 C T rs200735610 POLR1A Nonsynonymous SNV R1457Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.009 276848 chr2 44549876 44549876 C G rs758234210 PREPL Nonsynonymous SNV G610R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.31 276849 chr18 21001401 21001401 T C rs75645916 TMEM241 Nonsynonymous SNV T43A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 276850 chr18 21694541 21694541 A G rs140346851 TTC39C Synonymous SNV T29T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.457 276851 chr2 54483083 54483083 T G rs756413668 TSPYL6 Nonsynonymous SNV H69P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 276852 chr18 23612484 23612484 C G rs61737050 SS18 Nonsynonymous SNV G339A 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 276853 chr2 227773539 227773539 C T rs145957679 RHBDD1 Synonymous SNV G219G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.815 276854 chr18 28742601 28742601 G A rs73406930 DSCAS 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 276855 chr11 84027890 84027890 T G rs373138134 DLG2 Nonsynonymous SNV H100P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 276856 chr2 55808747 55808747 G C PPP4R3B Nonsynonymous SNV L441V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 276857 chr11 61511925 61511925 C T rs375717690 DAGLA Synonymous SNV P1031P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 276858 chr2 102642697 102642697 C T rs147924293 IL1R2 Nonsynonymous SNV R338C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 276859 chr2 61413192 61413192 C T rs1033828466 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 276860 chr2 61463343 61463343 G A USP34 Nonsynonymous SNV P2291S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 276861 chr2 103067406 103067406 C T rs144196258 IL18RAP Synonymous SNV L437L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.305 276862 chr18 33793419 33793419 A G rs35264715 MOCOS Nonsynonymous SNV N437D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.711 276863 chr2 234915516 234915516 T C TRPM8 Synonymous SNV N1050N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.371 276864 chr18 44159686 44159686 G A rs147582935 LOXHD1 Synonymous SNV N572N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.92 276865 chr18 44181398 44181398 C T rs769059187 LOXHD1 Nonsynonymous SNV D306N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.5 276866 chr2 133402993 133402993 G A rs769121231 GPR39 Synonymous SNV L392L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.369 276867 chr11 1256637 1256637 C T rs557407716 MUC5B Synonymous SNV F958F 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 13.84 276868 chr18 59780430 59780430 A G rs761856805 PIGN Synonymous SNV Y457Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.785 276869 chr2 98275853 98275853 C T rs771783716 ACTR1B Nonsynonymous SNV V93I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 276870 chr2 98928292 98928292 G A VWA3B Nonsynonymous SNV E835K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.304 276871 chr11 45937351 45937351 C T rs567165324 PEX16 Nonsynonymous SNV V88M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 276872 chr2 25065221 25065221 G A rs770143076 ADCY3 Synonymous SNV H286H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 276873 chr11 67133053 67133053 G A rs567374288 CLCF1 Nonsynonymous SNV R68C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 276874 chr2 27357264 27357264 A G PREB Nonsynonymous SNV L9P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 276875 chr2 27616324 27616326 TGG - rs756719193 FTH1P3 0 0 0.007 0 0 0 0 2 0 0 0 0 276876 chr2 163175716 163175716 G A GCA Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.534 276877 chr2 112725746 112725746 C T rs369655379 MERTK Nonsynonymous SNV R293C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 276878 chr11 17415927 17415927 G A rs145673861 ABCC8 Synonymous SNV G1477G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.3 276879 chr18 76856583 76856583 G C rs147127443 ATP9B Nonsynonymous SNV R76T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.892 276880 chr11 17532018 17532018 A T USH1C Stop gain Y488X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 36 276881 chr18 77470353 77470353 A G rs148352897 CTDP1 Synonymous SNV L141L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.238 276882 chr2 169763244 169763244 A G rs2232322 G6PC2 Nonsynonymous SNV I171V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.63 276883 chr19 861770 861770 A G rs8953 CFD Synonymous SNV A150A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.559 276884 chr2 173882219 173882219 C T rs34965602 RAPGEF4 Synonymous SNV R445R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 276885 chr11 72412735 72412735 G A rs147679671 ARAP1 Nonsynonymous SNV A448V 0 0.003 0 0 0 1 0 0 0 0 0 0 26 276886 chr2 43927044 43927044 A C PLEKHH2 Nonsynonymous SNV Q316P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.118 276887 chr12 121471386 121471386 T G OASL Nonsynonymous SNV D120A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 276888 chr2 179582377 179582377 T C rs374168239 TTN Synonymous SNV T7164T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.919 276889 chr11 20668471 20668471 C A SLC6A5 Synonymous SNV T453T 0 0 0 2 0 0 0.005 0 0 0 0 0 20.9 276890 chr11 78775967 78775967 G C TENM4 Synonymous SNV P103P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.575 276891 chr2 136570332 136570332 G A rs202014246 LCT Synonymous SNV P634P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.811 276892 chr19 1085845 1085845 - GGACGG rs201348186 ARHGAP45 D724_E725insGD 0.002 0 0 0 2 0 0 0 0 0 0 0 276893 chr19 1085964 1085964 A C rs137868278 ARHGAP45 Nonsynonymous SNV T759P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 276894 chr2 137814229 137814229 C G rs561877625 THSD7B Nonsynonymous SNV R127G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 276895 chr19 1272102 1272102 G A rs778087610 CIRBP Nonsynonymous SNV R185Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 276896 chr2 55187443 55187443 G A rs776597553 EML6 Synonymous SNV E1647E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.613 276897 chr2 157352676 157352676 A G rs145747966 GPD2 Nonsynonymous SNV I75V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 276898 chr2 61633185 61633185 C A rs200560829 USP34 Synonymous SNV V70V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 276899 chr2 63824549 63824549 T C MDH1 Synonymous SNV D90D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.074 276900 chr11 92714995 92714995 G A rs200681545 MTNR1B Synonymous SNV A202A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.732 276901 chr19 2041864 2041864 C T rs531588743 MKNK2 Nonsynonymous SNV R307H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 276902 chr19 2078424 2078424 G T rs34059622 MOB3A Synonymous SNV R46R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.878 276903 chr2 160994112 160994112 C T rs372571486 ITGB6 Nonsynonymous SNV S403N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 276904 chr11 34149075 34149075 C T rs141428058 NAT10 Synonymous SNV A319A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.92 276905 chr19 2432450 2432450 C G rs11882908 LMNB2 Synonymous SNV T518T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.96 276906 chr11 36595509 36595509 C T rs368199324 RAG1 Nonsynonymous SNV R219W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 276907 chr2 71795357 71795357 C T DYSF Nonsynonymous SNV T886I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 276908 chr11 88070751 88070751 G A rs202160994 CTSC Synonymous SNV C30C 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 12.89 276909 chr10 5958254 5958254 C T rs200301391 FBH1 Synonymous SNV S467S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 276910 chr19 3754252 3754252 G A rs146736916 APBA3 Nonsynonymous SNV R235W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 276911 chr19 3938728 3938728 C T rs74527868 NMRK2 Synonymous SNV L103L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.308 276912 chr2 174074541 174074541 C T rs532996788 MAP3K20 Synonymous SNV L277L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.26 276913 chr2 179431053 179431053 A G rs770125328 TTN Synonymous SNV I17537I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.377 276914 chr19 4318379 4318379 A G rs747414361 FSD1 Nonsynonymous SNV Q279R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 276915 chr2 179447135 179447135 G A rs997612485 TTN Synonymous SNV S12951S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.97 276916 chr2 95818469 95818469 C G rs150402017 ZNF514 Nonsynonymous SNV G129A 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 276917 chr2 96809752 96809752 C T rs942386949 DUSP2 Nonsynonymous SNV R252Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 276918 chr2 97007459 97007459 G A rs561015827 NCAPH Synonymous SNV V22V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.134 276919 chr2 97633348 97633348 G A rs200961829 FAM178B Stop gain Q215X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 276920 chr2 183106536 183106536 G A PDE1A Nonsynonymous SNV H36Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.83 276921 chr19 4817911 4817911 G A rs145148929 TICAM1 Nonsynonymous SNV S160F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24 276922 chr2 186671222 186671222 C T FSIP2 Nonsynonymous SNV T5730I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.804 276923 chr2 189859026 189859026 G A rs372329498 COL3A1 Nonsynonymous SNV A421T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.64 276924 chr19 5694847 5694847 C A rs142052215 LONP1 Synonymous SNV S497S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.5 276925 chr12 119957943 119957943 A G rs778828974 CCDC60 Nonsynonymous SNV K329R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 276926 chr19 6364500 6364500 G A rs7260547 CLPP Synonymous SNV T135T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.99 276927 chr19 6430137 6430137 C G rs61730225 SLC25A41 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 276928 chr2 219691783 219691783 G A rs200343848 PRKAG3 Nonsynonymous SNV R346C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 276929 chr2 219691995 219691995 C T PRKAG3 Nonsynonymous SNV R326H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 276930 chr2 220047210 220047210 G A RETREG2 Synonymous SNV Q290Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.722 276931 chr12 120210620 120210620 C T rs377249053 CIT Nonsynonymous SNV R679Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 276932 chr3 114070363 114070363 C T ZBTB20 Nonsynonymous SNV E188K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 276933 chr2 220379287 220379287 C T rs765786268 ASIC4 Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 276934 chr2 203817324 203817324 G A rs762408121 CARF Nonsynonymous SNV V29I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 276935 chr2 206892973 206892973 C T INO80D Nonsynonymous SNV R387H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 276936 chr2 227917069 227917069 G T COL4A4 Nonsynonymous SNV P974T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.526 276937 chr2 227966621 227966621 T C COL4A4 Nonsynonymous SNV D312G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 276938 chr3 122288527 122288527 G A rs752454998 DTX3L Nonsynonymous SNV D531N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.731 276939 chr12 130934746 130934746 T C rs199581863 RIMBP2 Nonsynonymous SNV S177G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 276940 chr10 94267330 94267330 - TCC IDE 0.001 0 0 0 1 0 0 0 0 0 0 0 276941 chr10 96534913 96534913 T A CYP2C19 Nonsynonymous SNV D89E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 276942 chr12 133209251 133209251 G A rs368662693 POLE Synonymous SNV P2045P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.747 276943 chr2 233413249 233413249 C T TIGD1 Synonymous SNV L448L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 276944 chr3 128339433 128339433 T A rs747024275 RPN1 Nonsynonymous SNV S549C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 276945 chr2 238436066 238436066 C T rs776603157 MLPH Synonymous SNV A269A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 276946 chr3 130150774 130150774 T A rs533162209 COL6A5 Nonsynonymous SNV V1905D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.626 276947 chr2 240958052 240958052 T A NDUFA10 Nonsynonymous SNV Q155H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 276948 chr2 241991813 241991813 A T rs199813885 SNED1 Nonsynonymous SNV T671S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 276949 chr3 14106329 14106329 - CAC rs751800041 TPRXL 0 0 0.003 0 0 0 0 1 0 0 0 0 276950 chr3 14106332 14106332 - CAGTCCCAGCAC rs755164258 TPRXL 0 0 0.003 0 0 0 0 1 0 0 0 0 276951 chr19 10671088 10671088 C T rs367633740 KRI1 Nonsynonymous SNV D234N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 276952 chr12 26221674 26221674 C T rs370277680 RASSF8 Nonsynonymous SNV R395W 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 35 276953 chr2 242422890 242422890 G A rs144542827 FARP2 Nonsynonymous SNV R758H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 276954 chr2 231076191 231076191 T C rs3769838 SP110 Nonsynonymous SNV M249V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.026 276955 chr11 56468492 56468492 C T rs138263863 OR9G1, OR9G9 Nonsynonymous SNV A210V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.271 276956 chr19 12155153 12155153 G A rs189074815 ZNF878 Stop gain R355X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 276957 chr19 14218712 14218712 C T PRKACA Nonsynonymous SNV D29N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.153 276958 chr12 49432105 49432105 G A rs752355105 KMT2D Synonymous SNV L3012L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 3.057 276959 chr12 2907024 2907024 C T rs749174239 FKBP4 Nonsynonymous SNV T127M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 276960 chr2 239006845 239006845 C T rs775329973 SCLY Nonsynonymous SNV P396L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 276961 chr11 66627198 66627198 C T rs367605309 LRFN4 Synonymous SNV A480A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.46 276962 chr11 67185931 67185931 G A rs528470629 CARNS1 Nonsynonymous SNV V102I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.482 276963 chr2 241465133 241465133 T C rs756484662 ANKMY1 Nonsynonymous SNV N116S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 276964 chr11 68703775 68703775 G A rs541245852 IGHMBP2 Synonymous SNV A609A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.25 276965 chr12 48477524 48477524 C T rs776105298 SENP1 Synonymous SNV A134A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.95 276966 chr3 186915650 186915650 G A rs564521159 LOC101929106 0 0 0.003 0 0 0 0 1 0 0 0 0 2.265 276967 chr12 53776192 53776192 A G rs774696893 SP1 Nonsynonymous SNV N106S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 276968 chr3 9934760 9934760 C G JAGN1 Nonsynonymous SNV P30R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 276969 chr19 18376586 18376586 C T rs370623074 IQCN Synonymous SNV P588P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.528 276970 chr11 75495682 75495682 C T rs768037688 DGAT2 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 276971 chr12 50186661 50186661 G A rs201610169 NCKAP5L Nonsynonymous SNV P1150L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 276972 chr19 18700429 18700429 G C rs1040583088 REX1BD Nonsynonymous SNV R130T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 276973 chr12 5685108 5685108 G A ANO2 Nonsynonymous SNV T838I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 276974 chr3 44635975 44635975 G A rs149108320 ZNF660 Nonsynonymous SNV R97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.439 276975 chr3 32860318 32860318 C T rs753046647 TRIM71 Nonsynonymous SNV A249V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 276976 chr12 53293578 53293578 A G rs576869462 KRT8 Nonsynonymous SNV I321T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 276977 chr13 101278337 101278337 C T rs761915644 TMTC4 Nonsynonymous SNV R395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 276978 chr12 53454727 53454727 C T rs142983356 TNS2 Nonsynonymous SNV R1023C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 276979 chr3 39229879 39229879 G A rs141194605 XIRP1 Nonsynonymous SNV A353V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 276980 chr12 54367216 54367216 C T rs201705157 HOXC11 Nonsynonymous SNV S64L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 276981 chr3 38159039 38159039 C T rs768790574 DLEC1 Synonymous SNV Y1477Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.069 276982 chr11 93103344 93103357 CAGTTTCAGGTAAG - rs761466399 DEUP1 Q180_Q182del 0.001 0 0 0 1 0 0 0 0 0 0 0 276983 chr12 56383858 56383858 C T rs141101772 RAB5B Synonymous SNV I97I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.23 276984 chr12 56726873 56726873 G A PAN2 Synonymous SNV N2N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 276985 chr12 6078467 6078467 C T rs763283384 VWF Nonsynonymous SNV V2547I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 276986 chr11 66457625 66457625 G A rs753828979 SPTBN2 Nonsynonymous SNV R1899C 0 0 0 2 0 0 0.005 0 0 0 0 0 27.4 276987 chr3 52682408 52682408 G A rs148664439 PBRM1 Synonymous SNV L255L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 276988 chr3 47054609 47054609 G C rs114694813 NRADDP 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 276989 chr19 38383354 38383354 G A rs201774814 WDR87 Nonsynonymous SNV P997S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 276990 chr12 8673804 8673804 T C rs148930891 CLEC4D Synonymous SNV N195N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.074 276991 chr3 49698697 49698697 C T BSN Nonsynonymous SNV A3140V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 276992 chr3 64532433 64532433 C T rs140269259 ADAMTS9 0.001 0 0 0 1 0 0 0 0 0 0 0 24 276993 chr19 39221822 39221822 G A rs143345899 CAPN12 Nonsynonymous SNV R667C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 276994 chr12 662817 662817 C G B4GALNT3 Nonsynonymous SNV D576E 0 0.005 0 0 0 2 0 0 0 0 0 0 0.309 276995 chr3 47041727 47041727 C T rs764151856 NBEAL2 Nonsynonymous SNV L1346F 0.002 0 0 0 2 0 0 0 0 0 0 0 5.085 276996 chr3 52097040 52097040 C T rs80052444 LINC00696 0 0 0.003 0 0 0 0 1 0 0 0 0 6.289 276997 chr3 52476767 52476767 C T rs200194451 SEMA3G Nonsynonymous SNV R91Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 276998 chr12 69981981 69981981 G A CCT2 Nonsynonymous SNV G82S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 276999 chr11 73078783 73078783 T C rs148223159 ARHGEF17 Synonymous SNV G2050G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.29 277000 chr19 40715110 40715110 G C MAP3K10 Synonymous SNV R512R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.294 277001 chr12 113314482 113314482 C T RPH3A Nonsynonymous SNV P261S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.047 277002 chr3 49689164 49689164 C G rs200312104 BSN Nonsynonymous SNV H725Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.17 277003 chr3 49692833 49692833 G A rs138243476 BSN Synonymous SNV E1948E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.934 277004 chr12 7531743 7531743 C T rs144552492 CD163L1 Synonymous SNV G744G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 277005 chr3 51970485 51970485 C T RRP9 Nonsynonymous SNV V202I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.003 277006 chr3 52282182 52282182 C T rs76959863 PPM1M Nonsynonymous SNV R30W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 277007 chr3 58303584 58303584 A G rs556885667 HTD2 Nonsynonymous SNV I82V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.551 277008 chr19 42776030 42776030 G A rs917252974 CIC Nonsynonymous SNV R32Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 277009 chr19 42838210 42838210 G A rs775833160 MEGF8 Nonsynonymous SNV A135T 0.001 0 0 0 1 0 0 0 0 0 0 0 30 277010 chr3 62518613 62518613 C T rs142586678 CADPS Nonsynonymous SNV A742T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 277011 chr3 64532577 64532577 C T rs1032015412 ADAMTS9 Nonsynonymous SNV E1613K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 277012 chr12 88390170 88390170 A G rs770146163 C12orf50 Synonymous SNV N154N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.531 277013 chr3 9515133 9515133 A G rs13327456 SETD5 Nonsynonymous SNV M1137V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.002 277014 chr3 98489745 98489745 C T rs763334850 ST3GAL6 Nonsynonymous SNV R91W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 277015 chr3 9862345 9862345 C T rs779640071 ARPC4-TTLL3, TTLL3 Synonymous SNV I358I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.6 277016 chr3 63981681 63981681 C T ATXN7 Nonsynonymous SNV S583F 0.001 0 0 0 1 0 0 0 0 0 0 0 30 277017 chr3 64644400 64644400 G A rs368592770 ADAMTS9 Synonymous SNV N249N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.419 277018 chr13 27254303 27254303 G C rs373691157 WASF3 Nonsynonymous SNV Q224H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.167 277019 chr13 29236579 29236579 C T POMP Synonymous SNV D12D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.16 277020 chr11 9430109 9430109 T C rs147672407 IPO7 Synonymous SNV Y81Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.972 277021 chr13 113973824 113973824 G A rs374933256 LAMP1 Synonymous SNV A201A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 277022 chr13 114321991 114321991 C T rs116680839 GRK1 Nonsynonymous SNV T97M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 277023 chr13 114623794 114623794 T C LINC00452 0.001 0 0 0 1 0 0 0 0 0 0 0 1.093 277024 chr3 98109510 98109510 A C rs200576523 OR5K3 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 277025 chr19 49260280 49260280 T C FGF21 Synonymous SNV Y111Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.374 277026 chr4 128949978 128949978 G A ABHD18 Nonsynonymous SNV D223N 0 0 0.007 0 0 0 0 2 0 0 0 0 34 277027 chr13 24797486 24797486 C T rs372376733 SPATA13 Nonsynonymous SNV S140L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.284 277028 chr13 33347337 33347337 C T rs367640322 PDS5B Nonsynonymous SNV R1395C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 277029 chr19 50170350 50170350 G A BCL2L12 Nonsynonymous SNV G144E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 277030 chr12 110344435 110344435 A - rs766799225 TCHP K174Nfs*26 0 0 0 1 0 0 0.003 0 0 0 0 0 277031 chr19 50918800 50918800 G A rs780344110 POLD1 Synonymous SNV A916A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.11 277032 chr13 31526929 31526929 A T TEX26 Nonsynonymous SNV R93S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.609 277033 chr4 153874689 153874689 G T rs778421269 FHDC1 Synonymous SNV G179G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 277034 chr3 155199632 155199632 C T PLCH1 Nonsynonymous SNV G1395S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 277035 chr3 156396114 156396114 C G TIPARP Nonsynonymous SNV L210V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 277036 chr4 166307469 166307469 G A MIR578 0 0 0.003 0 0 0 0 1 0 0 0 0 2.095 277037 chr4 169105761 169105761 G A ANXA10 Nonsynonymous SNV E279K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 277038 chr13 52439968 52439968 G A rs200150032 CCDC70 Nonsynonymous SNV E141K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 277039 chr14 100193028 100193028 C T rs550169210 CYP46A1 Synonymous SNV R489R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 277040 chr3 184098519 184098519 C G rs769465205 CHRD Nonsynonymous SNV T63R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 277041 chr3 132226098 132226098 T A DNAJC13 Synonymous SNV T1672T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 277042 chr3 133667507 133667507 T C rs34616463 SLCO2A1 Synonymous SNV S326S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.009 277043 chr4 25750150 25750150 G A SEL1L3 Nonsynonymous SNV P1064L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.981 277044 chr4 2632863 2632863 C T rs149864699 FAM193A Synonymous SNV A44A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 277045 chr3 194117737 194117737 G A rs751728758 GP5 Synonymous SNV C425C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 277046 chr3 196050696 196050696 C T rs199499858 TM4SF19 Nonsynonymous SNV E182K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 277047 chr14 20764552 20764552 C T rs778384528 TTC5 Synonymous SNV A231A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.88 277048 chr3 182988369 182988369 C T rs148521313 B3GNT5 Synonymous SNV S261S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.022 277049 chr12 58008763 58008763 A G rs754646825 ARHGEF25 Nonsynonymous SNV Y278C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 277050 chr12 65082175 65082175 C T rs368431018 RASSF3 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 277051 chr4 7795521 7795521 A G rs144093522 AFAP1 Synonymous SNV I433I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.317 277052 chr3 195478082 195478082 G A rs148587168 MUC4 Stop gain R928X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 277053 chr12 66638923 66638923 T C rs776074851 IRAK3 Nonsynonymous SNV C338R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 277054 chr14 25076529 25076529 C A GZMH Synonymous SNV L141L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.72 277055 chr14 64483308 64483308 T C rs764521226 SYNE2 Nonsynonymous SNV F1616L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 277056 chr4 74349695 74349695 T C AFM Synonymous SNV N42N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 277057 chr20 209933 209933 A C rs114202876 DEFB129 Synonymous SNV R25R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 277058 chr20 210269 210269 C G rs74363901 DEFB129 Nonsynonymous SNV Q137E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 277059 chr20 746179 746179 G A rs34376836 SLC52A3 Synonymous SNV G80G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.987 277060 chr12 75683519 75683519 C T rs199654216 CAPS2 Nonsynonymous SNV R308H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277061 chr20 1106143 1106143 G A rs35517343 PSMF1 Synonymous SNV P44P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.733 277062 chr20 1219988 1219988 T A rs189277274 RAD21L1 Nonsynonymous SNV L227I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 277063 chr14 47600934 47600934 C A MDGA2 Nonsynonymous SNV R234I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 277064 chr20 1629747 1629747 A T rs62641734 SIRPG Synonymous SNV P127P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 277065 chr12 52908930 52908930 A T rs771176935 KRT5 Synonymous SNV G523G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 277066 chr20 2398197 2398197 C T rs75601099 TGM6 Synonymous SNV A552A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.76 277067 chr20 2539336 2539336 C T rs140733884 TMC2 Nonsynonymous SNV S106F 0.001 0 0 0 1 0 0 0 0 0 0 0 26 277068 chr20 2797325 2797325 C T rs115570486 TMEM239 Nonsynonymous SNV P42L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 277069 chr15 34030726 34030726 G A RYR3 Nonsynonymous SNV V2531M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 24.5 277070 chr20 3128997 3128997 A G rs75604939 FASTKD5 Synonymous SNV N240N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277071 chr20 3204176 3204176 C T rs75609817 ITPA Nonsynonymous SNV R106W 0.001 0 0 0 1 0 0 0 0 0 0 0 6.502 277072 chr20 3672119 3672119 G A rs16988873 SIGLEC1 Nonsynonymous SNV R1487W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 277073 chr12 95396556 95396556 T C NDUFA12 Nonsynonymous SNV K43R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 277074 chr20 3719327 3719327 G A rs6052048 HSPA12B Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.729 277075 chr20 3726676 3726676 C T rs6052060 HSPA12B Synonymous SNV L139L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 277076 chr20 3844992 3844992 - AAG rs61675970 MAVS R98delinsQG 0.001 0 0 0 1 0 0 0 0 0 0 0 277077 chr20 4768282 4768282 G A rs6052876 RASSF2 Synonymous SNV Y270Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.055 277078 chr5 101627298 101627298 T C SLCO4C1 Nonsynonymous SNV N123S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 277079 chr14 81969193 81969193 T C SEL1L Nonsynonymous SNV N217D 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 277080 chr4 7677815 7677815 C T rs764275522 SORCS2 Synonymous SNV F400F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 277081 chr5 1037749 1037749 C G rs945520209 NKD2 Nonsynonymous SNV P301R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.518 277082 chr14 61442841 61442841 G A rs747688805 TRMT5 Stop gain R294X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 277083 chr5 1053503 1053503 T C SLC12A7 Nonsynonymous SNV M1041V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 277084 chr14 89061402 89061402 A G ZC3H14 Nonsynonymous SNV Q111R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.02 277085 chr11 62298399 62298399 T C AHNAK Nonsynonymous SNV I1164V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277086 chr13 101759838 101759838 G A rs186621340 NALCN Nonsynonymous SNV A831V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 277087 chr5 110820156 110820156 G T rs202093306 CAMK4 Stop gain E275X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 277088 chr14 64632114 64632114 C A rs145036293 SYNE2 Nonsynonymous SNV P5531T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 277089 chr20 17640101 17640101 T C rs746623495 RRBP1 Nonsynonymous SNV K351R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.13 277090 chr5 112899767 112899767 G C rs199656628 YTHDC2 Nonsynonymous SNV C585S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 277091 chr20 18295959 18295959 T C rs377301648 ZNF133 Nonsynonymous SNV F136S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.916 277092 chr14 93712290 93712290 C A rs61991737 BTBD7 Nonsynonymous SNV A471S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.95 277093 chr5 115815886 115815886 C T rs369918649 SEMA6A Synonymous SNV T394T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 277094 chr20 23065689 23065689 C T rs146164571 CD93 Nonsynonymous SNV G381R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.877 277095 chr4 25819834 25819834 A G rs756994197 SEL1L3 Nonsynonymous SNV F462S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 277096 chr5 127641615 127641615 T C rs138022198 FBN2 Synonymous SNV P1816P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 8.843 277097 chr5 127685088 127685088 G A rs143255082 FBN2 Synonymous SNV C980C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign/Likely benign 13.25 277098 chr4 78650051 78650051 G C rs774329114 CNOT6L Nonsynonymous SNV I403M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 277099 chr20 31455538 31455538 A G rs115908161 EFCAB8 Nonsynonymous SNV I65V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277100 chr5 134118730 134118730 A C rs775887965 DDX46 Nonsynonymous SNV M381L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 277101 chr4 79391205 79391205 C G rs775553802 FRAS1 Nonsynonymous SNV T2444S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 277102 chr5 1364317 1364317 G A rs116214641 LINC01511 0 0 0.003 0 0 0 0 1 0 0 0 0 3.787 277103 chr12 6669915 6669915 G A NOP2 Synonymous SNV P458P 0 0 0 2 0 0 0.005 0 0 0 0 0 9.913 277104 chr15 45456047 45456047 C G DUOX1 Synonymous SNV R1488R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.132 277105 chr4 47605569 47605569 C T rs150816024 CORIN Nonsynonymous SNV R782Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 277106 chr20 34451285 34451285 A G rs143366294 PHF20 Synonymous SNV K257K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.297 277107 chr4 88902659 88902659 C T rs142399706 SPP1 Synonymous SNV D42D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.583 277108 chr4 90171113 90171113 G A rs147824548 GPRIN3 Nonsynonymous SNV A50V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.704 277109 chr14 96864474 96864474 A G rs776990831 AK7 Synonymous SNV E56E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.887 277110 chr14 92466390 92466390 A G rs72705400 TRIP11 Synonymous SNV V1539V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.011 277111 chr14 92482080 92482080 A G rs145020414 TRIP11 Synonymous SNV Y260Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.892 277112 chr5 140480261 140480261 A C PCDHB3 Synonymous SNV R10R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 277113 chr15 100672213 100672213 G A rs200327256 ADAMTS17 Nonsynonymous SNV P574S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 277114 chr20 44048179 44048179 G A PIGT Synonymous SNV L108L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 277115 chr5 140745410 140745410 G A PCDHGA5 Nonsynonymous SNV V505I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.048 277116 chr5 141237010 141237010 C T rs140077127 PCDH1 Synonymous SNV S1042S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 277117 chr5 141694649 141694649 C T rs77566564 SPRY4 Nonsynonymous SNV A9T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 11.66 277118 chr20 47852688 47852688 C T rs117301601 DDX27 Nonsynonymous SNV R508C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 277119 chr20 48263524 48263524 G A rs142296342 B4GALT5 Synonymous SNV C114C 0.001 0 0 0 1 0 0 0 0 0 0 0 11 277120 chr5 147504332 147504332 C T rs749828824 SPINK5 Stop gain R891X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 277121 chr4 114458500 114458500 A G CAMK2D Nonsynonymous SNV F172L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 277122 chr20 52192698 52192698 A G rs34533727 ZNF217 Nonsynonymous SNV S869P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 277123 chr13 52598470 52598470 A G rs750515209 ALG11 Nonsynonymous SNV I202V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 277124 chr20 52645363 52645363 C A rs150059555 BCAS1 Nonsynonymous SNV L97F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 277125 chr4 77818055 77818056 CA - SOWAHB V316Afs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 277126 chr20 52775622 52775622 C T rs116548533 CYP24A1 Nonsynonymous SNV R344H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 277127 chr20 54824854 54824854 G T rs761810069 MC3R Nonsynonymous SNV G319C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.889 277128 chr4 121958226 121958226 G A rs781469160 NDNF Synonymous SNV T300T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.423 277129 chr4 79500262 79500262 C A ANXA3 Nonsynonymous SNV A62E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 277130 chr4 79747251 79747251 G A rs200424874 BMP2K Nonsynonymous SNV R80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 277131 chr20 56803540 56803540 T C rs759024352 ANKRD60 Nonsynonymous SNV D57G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 277132 chr20 60887286 60887286 G A rs143973406 LAMA5 Synonymous SNV S3149S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 277133 chr20 60888200 60888200 C G rs138062157 LAMA5 Nonsynonymous SNV E2967Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 277134 chr15 49255048 49255048 C T rs147496088 SHC4 Synonymous SNV S55S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.08 277135 chr15 50884635 50884635 C T rs760977187 TRPM7 Nonsynonymous SNV R1266Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 277136 chr4 143226631 143226631 T C INPP4B Synonymous SNV Q161Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.484 277137 chr4 146038448 146038448 T C rs142470680 ABCE1 Synonymous SNV Y268Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.293 277138 chr5 157170775 157170775 G C rs199860496 LSM11 Nonsynonymous SNV R6P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 277139 chr13 111287027 111287027 G A rs746709164 NAXD Synonymous SNV L75L 0 0 0 2 0 0 0.005 0 0 0 0 0 9.921 277140 chr5 160033937 160033937 C T rs368049318 ATP10B Nonsynonymous SNV D999N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 277141 chr4 153332602 153332602 C T FBXW7 Nonsynonymous SNV M118I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 277142 chr20 61292447 61292447 G A rs6011477 SLCO4A1 Synonymous SNV A347A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.696 277143 chr13 114286036 114286036 C T rs770501585 TFDP1 Synonymous SNV S95S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.89 277144 chr5 167891802 167891802 G C rs774235107 WWC1 Synonymous SNV L1001L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.744 277145 chr20 61594032 61594032 G C rs57995756 SLC17A9 Nonsynonymous SNV S185T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 277146 chr20 61595026 61595026 C T rs199720748 SLC17A9 Synonymous SNV D272D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 277147 chr5 174937166 174937166 C G SFXN1 Synonymous SNV V130V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 277148 chr15 63881184 63881184 C T rs374651935 USP3 Synonymous SNV A413A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 277149 chr5 176882922 176882922 G A rs764856740 PRR7 Nonsynonymous SNV G209S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 277150 chr20 62493371 62493371 C T rs79468792 ABHD16B Nonsynonymous SNV R160C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 277151 chr15 52527881 52527881 G A rs778862426 MYO5C Nonsynonymous SNV T983I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 277152 chr15 45047569 45047569 T C TRIM69 Nonsynonymous SNV F160L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.49 277153 chr5 179196037 179196037 C T MAML1 Nonsynonymous SNV H640Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 277154 chr4 184931643 184931643 A G rs141428264 STOX2 Nonsynonymous SNV Y551C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 277155 chr4 186380962 186380962 A G rs760630075 CCDC110 Nonsynonymous SNV V223A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 277156 chr15 52239558 52239558 G A rs149228273 LEO1 Synonymous SNV D549D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.19 277157 chr12 104325349 104325349 G A rs201068970 HSP90B1 Nonsynonymous SNV D34N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 277158 chr15 65262475 65262475 C T rs149251662 SPG21 Nonsynonymous SNV A153T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 277159 chr5 1268700 1268700 C T rs140124989 TERT Synonymous SNV T839T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.98 277160 chr5 7878356 7878356 C G MTRR Nonsynonymous SNV P234R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 277161 chr5 54581216 54581216 C T DHX29 Nonsynonymous SNV V421I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 277162 chr21 43291623 43291623 C G rs201021233 PRDM15 Nonsynonymous SNV R174P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.657 277163 chr12 117013853 117013853 G A MAP1LC3B2 Nonsynonymous SNV E36K 0.001 0 0 0 1 0 0 0 0 0 0 0 29 277164 chr5 33457373 33457373 G A rs113811412 TARS1 Synonymous SNV T283T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 277165 chr21 44589263 44589263 C T rs61729442 CRYAA, CRYAA2 Synonymous SNV Y18Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.569 277166 chr21 45534623 45534623 C T rs138436844 LOC102724159, PWP2 Synonymous SNV T148T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.991 277167 chr21 45535691 45535691 - GAG rs772484455 LOC102724159, PWP2 E247_D248insE 0.001 0 0 0 1 0 0 0 0 0 0 0 277168 chr21 45561241 45561241 G C rs188073811 GATD3A Nonsynonymous SNV Q239H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.864 277169 chr21 45711034 45711034 C T rs147889221 AIRE Synonymous SNV D312D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.25 277170 chr5 35700846 35700846 A G rs201730485 SPEF2 Nonsynonymous SNV D797G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.994 277171 chr21 45750380 45750380 G A rs114642139 CFAP410 Nonsynonymous SNV A322V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 277172 chr15 89422230 89422230 T C rs746965848 HAPLN3 Nonsynonymous SNV Y255C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 277173 chr21 46066494 46066494 C T rs73909206 KRTAP10-11 Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 277174 chr21 46066495 46066495 C T rs73909207 KRTAP10-11 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.056 277175 chr5 1294397 1294397 C T rs121918661 TERT Nonsynonymous SNV A202T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.017 277176 chr5 39311285 39311285 G C rs35460483 C9 Synonymous SNV L355L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 4.312 277177 chr21 46131379 46131379 G A rs75351275 TSPEAR Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.07 277178 chr5 40945391 40945391 G A rs369349760 C7 Nonsynonymous SNV R220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 277179 chr21 46876669 46876669 T C rs58491986 COL18A1 Nonsynonymous SNV C409R 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 13.95 277180 chr21 46888469 46888469 A G rs17004775 COL18A1 Synonymous SNV T320T 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.033 277181 chr21 46888559 46888559 A G rs76754353 COL18A1 Synonymous SNV A350A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 0.149 277182 chr21 46888652 46888652 C T rs17004776 COL18A1 Synonymous SNV A381A 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 13.08 277183 chr21 46888673 46888673 G A rs76148908 COL18A1 Synonymous SNV A388A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 4.43 277184 chr5 7690872 7690872 G A rs10079813 ADCY2 Synonymous SNV R263R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.613 277185 chr21 46897709 46897709 C T rs370176315 COL18A1 Nonsynonymous SNV P531S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 277186 chr5 52221170 52221170 C T rs149219424 ITGA1 Synonymous SNV V822V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.921 277187 chr5 53815525 53815525 A T rs114605253 SNX18 Nonsynonymous SNV R581S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 277188 chr21 47636334 47636334 G A rs61735801 LSS Nonsynonymous SNV A171V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.02 277189 chr15 86283479 86283479 C T rs982904500 AKAP13 Synonymous SNV L1149L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.524 277190 chr21 47738012 47738012 G A rs80138297 C21orf58 Synonymous SNV L75L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.608 277191 chr5 94278088 94278088 G A rs775002256 MCTP1 Nonsynonymous SNV S121L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 277192 chr5 64850665 64850665 G C rs150574725 CENPK Nonsynonymous SNV L24V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 277193 chr14 64954200 64954200 C T ZBTB25 Nonsynonymous SNV R250H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 277194 chr22 17589297 17589297 G A rs2229151 IL17RA Synonymous SNV L362L 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 7.345 277195 chr22 17589794 17589794 C A rs12484684 IL17RA Nonsynonymous SNV P528Q 0.002 0 0.01 0 2 0 0 3 0 0 0 0 Benign 25.8 277196 chr12 130963548 130963548 G A rs774978438 RIMBP2 Nonsynonymous SNV A4V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 277197 chr5 35727901 35727901 C G SPEF2 Synonymous SNV V1013V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 277198 chr5 98115311 98115311 G A rs200349520 RGMB Nonsynonymous SNV R55Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 277199 chr14 65507574 65507574 C T rs757798314 CHURC1-FNTB, FNTB Synonymous SNV F253F 0.002 0 0 0 2 0 0 0 0 0 0 0 16.72 277200 chr16 30100401 30100401 C T rs56098093 TBX6 Nonsynonymous SNV G162S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 33 277201 chr5 38949929 38949929 T C RICTOR Nonsynonymous SNV M1341V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.437 277202 chr6 109563457 109563457 T C rs765460319 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.19 277203 chr16 31096495 31096495 G C rs72785539 PRSS53 Nonsynonymous SNV L324V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 277204 chr6 109775014 109775014 C T rs755389348 MICAL1 Nonsynonymous SNV R98Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 277205 chr22 21288416 21288416 G A rs145813322 CRKL Nonsynonymous SNV G221S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.43 277206 chr6 109993198 109993198 G A rs771094883 AK9 Synonymous SNV S85S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.465 277207 chr6 111588065 111588065 C G rs143668785 MFSD4B Nonsynonymous SNV L434V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 277208 chr5 50090917 50090917 G A rs201467874 PARP8 Nonsynonymous SNV R365H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 277209 chr15 90610517 90610517 G C rs144139243 ZNF710 Nonsynonymous SNV E50Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 15.14 277210 chr22 23503155 23503155 C T rs142280693 RAB36 Nonsynonymous SNV P296L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 277211 chr22 23627238 23627238 C A rs12484731 BCR Nonsynonymous SNV D752E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 277212 chr22 23632547 23632547 A G rs35537221 BCR Nonsynonymous SNV Y910C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 277213 chr5 55202003 55202003 C G rs747985586 IL31RA Nonsynonymous SNV S361C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.2 277214 chr5 63256667 63256667 C G rs761065498 HTR1A Nonsynonymous SNV E294Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 277215 chr22 24921693 24921693 T C rs2232870 UPB1 Synonymous SNV Y362Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.097 277216 chr5 80608438 80608438 C T rs748879820 ZCCHC9 Nonsynonymous SNV P258L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.19 277217 chr5 66480258 66480258 G C rs138790017 CD180 Nonsynonymous SNV S138C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 277218 chr12 21377701 21377701 C T rs201861991 SLCO1B1 Nonsynonymous SNV T598M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 277219 chr12 21624413 21624413 C G rs367657766 RECQL Nonsynonymous SNV R539P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 277220 chr6 129802516 129802516 G A rs200341138 LAMA2 Nonsynonymous SNV G2557S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 32 277221 chr16 53338468 53338470 TCC - rs770307238 CHD9 S2193del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 277222 chr5 72864396 72864396 G A UTP15 Nonsynonymous SNV R93K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 277223 chr5 90074874 90074874 G A ADGRV1 Nonsynonymous SNV E4348K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 277224 chr6 132874744 132874744 A G rs375368050 TAAR8 Nonsynonymous SNV M305V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 277225 chr14 50074658 50074658 C T rs149392146 LRR1 Nonsynonymous SNV R275C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 277226 chr6 134350656 134350656 T C rs61741411 SLC2A12 Nonsynonymous SNV R103G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.1 277227 chr12 31579352 31579352 T A DENND5B Nonsynonymous SNV M705L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 277228 chr5 77805816 77805816 T G LHFPL2 Nonsynonymous SNV Q74P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 277229 chr5 79025975 79025975 A G rs201896325 CMYA5 Nonsynonymous SNV I463V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277230 chr5 80508374 80508374 T C rs780293239 RASGRF2 Nonsynonymous SNV S1116P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 277231 chr15 28358774 28358774 C T rs371898983 HERC2 Nonsynonymous SNV R4655H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277232 chr6 158923918 158923918 G A rs771340978 TULP4 Nonsynonymous SNV D1075N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 277233 chr12 49412544 49412544 G C rs577779627 DDN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.241 277234 chr12 49719903 49719903 T C rs140857763 TROAP Synonymous SNV S226S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.419 277235 chr14 65054864 65054864 C T PPP1R36 Synonymous SNV N311N 0 0 0 2 0 0 0.005 0 0 0 0 0 13.03 277236 chr5 101735288 101735288 A - SLCO6A1 G343Vfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 277237 chr22 40662940 40662940 T C rs61743866 TNRC6B Synonymous SNV Y902Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.024 277238 chr5 137721957 137721957 C T KDM3B Nonsynonymous SNV P343S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.32 277239 chr22 40669482 40669482 G A rs61745473 TNRC6B Nonsynonymous SNV A954T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.06 277240 chr22 41968020 41968020 C T rs369340702 CSDC2 Synonymous SNV P17P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 277241 chr14 73423178 73423178 G A rs752460715 DCAF4 Nonsynonymous SNV V362M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 277242 chr22 43089206 43089206 G A rs28940571 A4GALT Nonsynonymous SNV P251L 0.001 0 0 0 1 0 0 0 0 0 0 0 Affects 32 277243 chr16 31366590 31366590 G C rs201174290 ITGAX Nonsynonymous SNV R5S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.333 277244 chr5 115320347 115320347 T G rs781019454 LVRN Nonsynonymous SNV L307V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.99 277245 chr6 168363225 168363225 C A AFDN Nonsynonymous SNV T1625K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 277246 chr22 43460261 43460261 G A rs553997208 TTLL1 Synonymous SNV G191G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 277247 chr5 118574692 118574692 G T DMXL1 Nonsynonymous SNV Q2662H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 277248 chr6 168720097 168720097 C A rs187948845 DACT2 Nonsynonymous SNV A73S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 277249 chr6 170584403 170584403 C T rs747754 LINC01624 0 0 0.007 0 0 0 0 2 0 0 1 0 5.82 277250 chr5 140784495 140784495 C T rs145718404 PCDHGA9 Nonsynonymous SNV T659M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 277251 chr16 31539485 31539485 G T AHSP Nonsynonymous SNV D9Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.3 277252 chr22 45691522 45691522 G A rs117722381 UPK3A Synonymous SNV S141S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.719 277253 chr22 46932777 46932777 G C rs565566676 CELSR1 Synonymous SNV A97A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.85 277254 chr5 148563032 148563032 C G rs370041329 ABLIM3 Nonsynonymous SNV P11A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 277255 chr5 148627491 148627491 C A rs765417846 ABLIM3 Synonymous SNV G455G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 277256 chr5 136314498 136314498 C T SPOCK1 Nonsynonymous SNV G389S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 277257 chr22 50316009 50316009 G A rs567509358 CRELD2 Synonymous SNV V219V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.063 277258 chr6 26157204 26157204 C T rs759421998 H1-4 Nonsynonymous SNV P196S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 21.5 277259 chr5 137485378 137485378 C T rs770304569 BRD8 Nonsynonymous SNV E1077K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 277260 chr5 137621722 137621722 G T rs369731708 CDC25C Nonsynonymous SNV P348T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 277261 chr6 26271452 26271452 C T HIST1H3G Nonsynonymous SNV R54H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 277262 chr22 50657611 50657611 G A rs17013240 TUBGCP6 Synonymous SNV V1504V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 9.924 277263 chr22 50658780 50658780 G A rs369884041 TUBGCP6 Synonymous SNV C1336C 0.002 0 0 0 2 0 0 0 0 0 0 0 5.798 277264 chr22 50667859 50667859 A G rs6010211 TUBGCP6 Synonymous SNV L422L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.067 277265 chr22 50718941 50718941 C T rs73891209 PLXNB2 Synonymous SNV K1384K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 277266 chr22 50903029 50903029 T A rs149528827 SBF1 Nonsynonymous SNV M525L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.43 277267 chr16 88783262 88783262 G A rs747798306 PIEZO1 Synonymous SNV F2235F 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.241 277268 chr16 69170613 69170613 T G UTP4 Nonsynonymous SNV H58Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.88 277269 chr6 35280158 35280158 A G DEF6 Nonsynonymous SNV Q168R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 277270 chr15 100657103 100657103 C T rs539824002 ADAMTS17 Nonsynonymous SNV D613N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 277271 chrX 9862431 9862431 G A rs61999277 SHROOM2 Synonymous SNV E161E 0.002 0 0 0 2 0 0 0 1 0 0 0 3.193 277272 chrX 9864406 9864406 G A rs61739700 SHROOM2 Nonsynonymous SNV G820R 0.002 0 0 0 2 0 0 0 1 0 0 0 21 277273 chrX 9905360 9905360 G C rs7881210 SHROOM2 Synonymous SNV S93S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.937 277274 chrX 11779632 11779632 C T rs78624542 MSL3 Synonymous SNV S120S 0.002 0 0 0 2 0 0 0 1 0 0 0 9.154 277275 chr16 72828334 72828334 C T rs2229287 ZFHX3 Synonymous SNV A1835A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.732 277276 chr16 58552025 58552025 - A rs768456822 SETD6 Frameshift insertion M288Ifs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 277277 chrX 18802154 18802154 A G rs61731650 PPEF1 Synonymous SNV V300V 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.804 277278 chr15 64496669 64496669 A G CSNK1G1 Nonsynonymous SNV Y324H 0.002 0 0 0 2 0 0 0 0 0 0 0 18.06 277279 chr16 75589922 75589922 G T rs200063331 TMEM231 Stop gain S83X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 30 277280 chr6 39281949 39281949 C A rs192466468 KCNK17 Nonsynonymous SNV D50Y 0 0 0.007 0 0 0 0 2 0 0 0 0 13.8 277281 chr5 172659578 172659578 G A rs370499146 NKX2-5 Synonymous SNV A323A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.351 277282 chr5 176001092 176001092 C T rs761329233 CDHR2 Synonymous SNV P138P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 277283 chr6 39507857 39507857 G T rs145150015 KIF6 Synonymous SNV R523R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.678 277284 chrX 30268968 30268968 C G MAGEB1 Nonsynonymous SNV L120V 0.002 0 0 0 2 0 0 0 1 0 0 0 18.37 277285 chr16 77325275 77325275 C T rs150975249 ADAMTS18 Nonsynonymous SNV R925H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 277286 chr5 176471494 176471494 A G ZNF346 Synonymous SNV A127A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 277287 chr16 67264546 67264548 CGG - rs752942969 FHOD1 R939del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 277288 chrX 37948810 37948810 C G rs767690066 SYTL5 Nonsynonymous SNV S267R 0.002 0 0 0 2 0 0 0 1 0 0 0 11.74 277289 chrX 38079975 38079975 - GCAGCA rs753358898 SRPX L23_R24insLL 0.002 0 0 0 2 0 0 0 1 0 0 0 277290 chrX 38145130 38145144 TCCTCTCCTTCCTCT - rs774012136 RPGR E1038_E1042del 0.002 0 0 0 2 0 0 0 1 0 0 0 277291 chrX 40450602 40450602 G A rs34217273 ATP6AP2 Synonymous SNV S95S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 8.498 277292 chr5 149212220 149212220 C T rs780397251 PPARGC1B Nonsynonymous SNV A156V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.177 277293 chrX 43626832 43626832 A T rs149656736 MAOB Nonsynonymous SNV L482M 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 8.843 277294 chrX 43626833 43626833 A G rs146667571 MAOB Synonymous SNV F481F 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.01 277295 chrX 43809031 43809031 C T rs73475744 NDP-AS1 0.002 0 0.007 0 2 0 0 2 1 0 1 0 Uncertain significance 8.794 277296 chrX 45060024 45060024 C G rs34191819 DIPK2B Nonsynonymous SNV W16C 0.002 0 0 0 2 0 0 0 1 0 0 0 22.7 277297 chrX 48326270 48326270 C T rs34099520 SLC38A5 Synonymous SNV S14S 0.002 0 0 0 2 0 0 0 1 0 0 0 12.83 277298 chrX 48369771 48369771 C A PORCN Synonymous SNV V75V 0.002 0 0 0 2 0 0 0 1 0 0 0 17.47 277299 chr6 42797271 42797271 G C rs190975148 BICRAL Nonsynonymous SNV Q400H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 277300 chrX 49021050 49021050 A G rs7891878 MAGIX Nonsynonymous SNV S68G 0.002 0 0 0 2 0 0 0 1 0 0 0 9.763 277301 chrX 49088374 49088374 G A rs6520408 CACNA1F Nonsynonymous SNV P14L 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 20.4 277302 chr16 84050846 84050846 G C SLC38A8 Synonymous SNV V284V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 277303 chrX 49104682 49104682 A C CCDC22 Nonsynonymous SNV S375R 0.002 0 0 0 2 0 0 0 1 0 0 0 9.193 277304 chr17 1481546 1481546 G A rs376327307 SLC43A2 Synonymous SNV A337A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.93 277305 chrX 50350974 50350974 A G rs61753881 SHROOM4 Synonymous SNV R1056R 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 2.828 277306 chr6 43252947 43252947 C T TTBK1 Nonsynonymous SNV R1267W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 277307 chr6 43270433 43270433 A C SLC22A7 Nonsynonymous SNV K437N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 277308 chr6 43305861 43305861 A C ZNF318 Nonsynonymous SNV W1959G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 277309 chr6 43325489 43325489 T C ZNF318 Nonsynonymous SNV D188G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 277310 chrX 55650186 55650186 C T rs61753358 FOXR2 Synonymous SNV L14L 0.002 0 0 0 2 0 0 0 1 0 0 0 7.141 277311 chr6 555228 555228 G T EXOC2 Nonsynonymous SNV H685N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 277312 chrX 70837108 70837108 C T rs771157013 CXCR3 Nonsynonymous SNV G119S 0.002 0 0 0 2 0 0 0 1 0 0 0 17.49 277313 chrX 99925875 99925875 G A rs183378773 SRPX2 Nonsynonymous SNV R430H 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 34 277314 chr6 49754681 49754681 C T rs781630880 PGK2 Nonsynonymous SNV D74N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 277315 chr6 10830845 10830845 C T rs387906647 MAK Nonsynonymous SNV G13S 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 33 277316 chr16 85696690 85696690 G A rs151106082 GSE1 Synonymous SNV T684T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.09 277317 chr16 89347534 89347534 C T rs376425467 ANKRD11 Nonsynonymous SNV G1806R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 277318 chr15 89873369 89873369 C A rs143631183 POLG Synonymous SNV V266V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.11 277319 chr6 26199438 26199438 G A H2AC7 Stop gain R12X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 277320 chr6 76018573 76018573 C T rs147152005 FILIP1 Nonsynonymous SNV R1159H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 277321 chr16 89922621 89922621 G A rs770539114 SPIRE2 Nonsynonymous SNV R360Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.54 277322 chr5 179564920 179564920 T C rs370743590 RASGEF1C Nonsynonymous SNV T45A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.767 277323 chr6 80020631 80020631 T C LCAL1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.301 277324 chr6 80197282 80197282 G T rs570251479 LCA5 Nonsynonymous SNV F511L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.087 277325 chr6 84630853 84630853 C A rs146223274 CYB5R4 Nonsynonymous SNV A206E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 277326 chr5 180475207 180475207 - T BTNL9 Frameshift insertion Y131Lfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 277327 chr17 11886694 11886694 G T rs200385412 ZNF18 Nonsynonymous SNV T261N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 277328 chr17 1549816 1549816 G A RILP Stop gain Q376X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 277329 chr6 35050477 35050477 C T rs761540583 ANKS1A Nonsynonymous SNV R907C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 277330 chr6 17706662 17706662 C A LOC105374952 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 277331 chr6 39271843 39271843 A G rs371407316 KCNK17 Nonsynonymous SNV L193P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 277332 chr15 75185564 75185564 C T rs200903491 MPI Synonymous SNV A141A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.48 277333 chr1 8419873 8419873 T C rs376434590 RERE Nonsynonymous SNV K636R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.644 277334 chr6 42946034 42946034 G T rs757897959 PEX6 Synonymous SNV P285P 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 5.521 277335 chr1 8419874 8419874 T G rs533978849 RERE Nonsynonymous SNV K636Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.7 277336 chr6 43188319 43188319 G A rs771839457 CUL9 Synonymous SNV S2135S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.32 277337 chr15 83349247 83349247 C G rs538786696 AP3B2 Synonymous SNV L312L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.63 277338 chr6 43638655 43638657 AGA - rs397515340 RSPH9 K268del 0.002 0 0 0 2 0 0 0 0 0 0 0 277339 chr16 22176923 22176923 G A rs866771307 SDR42E2 Nonsynonymous SNV R7H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.961 277340 chr15 86838560 86838560 G T rs765274157 AGBL1 Synonymous SNV T765T 0 0 0 2 0 0 0.005 0 0 0 0 0 8.409 277341 chr15 86940613 86940613 G T rs757650131 AGBL1 Nonsynonymous SNV Q797H 0 0 0 2 0 0 0.005 0 0 0 0 0 23 277342 chr16 23226732 23226732 G A rs139283096 SCNN1G Nonsynonymous SNV R631H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 277343 chr6 33653865 33653865 C T rs779806902 ITPR3 Synonymous SNV Y1901Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.582 277344 chr17 30677199 30677199 C T rs770063145 MIR632 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 277345 chr17 25936279 25936279 G A rs200491363 KSR1 Nonsynonymous SNV V717I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 277346 chr7 122342482 122342482 C T rs745559219 RNF148 Nonsynonymous SNV G108E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 277347 chr6 36683383 36683383 G A rs79204428 RAB44 Synonymous SNV A149A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 277348 chr17 30321700 30321700 C T SUZ12 Nonsynonymous SNV P496S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 277349 chr6 70423656 70423656 T C rs771226867 LMBRD1 Nonsynonymous SNV K193E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.2 277350 chr6 70871832 70871832 C T rs374027562 COL19A1 Nonsynonymous SNV P778L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 277351 chr16 30410361 30410361 C T rs140888942 ZNF48 Nonsynonymous SNV T474M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 277352 chr16 31072893 31072893 C T ZNF668 Synonymous SNV L452L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.579 277353 chr6 42935173 42935173 C T rs780239941 PEX6 Nonsynonymous SNV R606Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.79 277354 chr6 46793170 46793170 G A rs769018940 MEP1A Nonsynonymous SNV G240R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 277355 chr17 3854578 3854578 C A rs181908864 ATP2A3 Nonsynonymous SNV D144Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 277356 chr7 143043294 143043294 A G rs144612641 CLCN1 Nonsynonymous SNV N745S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.8 277357 chr6 106973031 106973031 T C rs369429018 CRYBG1 Synonymous SNV N1015N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.64 277358 chr17 39116573 39116573 T C rs138861067 KRT39 Nonsynonymous SNV I393V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 277359 chr6 116542370 116542370 T A rs757535102 NT5DC1 Nonsynonymous SNV L228H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 277360 chr16 2014621 2014621 C A RPS2 Synonymous SNV A2A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 277361 chr6 117121772 117121772 G A rs749687198 GPRC6A Nonsynonymous SNV T333I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 277362 chr6 73839563 73839563 G T rs774233700 KCNQ5 Nonsynonymous SNV R423L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 277363 chr7 150648813 150648813 G A rs748266308 KCNH2 Synonymous SNV T216T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.708 277364 chr16 65016193 65016193 A G rs758770585 CDH11 Synonymous SNV F211F 0.002 0 0 0 2 0 0 0 0 0 0 0 8.619 277365 chr6 74104635 74104635 C T rs747072965 DDX43 Nonsynonymous SNV H3Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.972 277366 chr6 131962646 131962646 G A rs76529435 ENPP3 Nonsynonymous SNV G44R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 277367 chr6 131974025 131974025 C T rs61741318 ENPP3 Nonsynonymous SNV P153L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 277368 chr6 132892350 132892350 G A rs775095698 TAAR6 Nonsynonymous SNV C297Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 277369 chr6 86200330 86200330 G A rs781684532 NT5E Nonsynonymous SNV V439M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 277370 chr7 16650226 16650226 A T rs375070381 ANKMY2 Nonsynonymous SNV C232S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 277371 chr1 32713975 32713975 G A rs758031381 FAM167B Nonsynonymous SNV E89K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 277372 chr6 146207918 146207918 G A rs376754399 SHPRH Nonsynonymous SNV T1654M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 277373 chr16 29851621 29851621 G T rs745742496 MVP Nonsynonymous SNV E344D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.76 277374 chr6 151914411 151914411 G A rs267600859 CCDC170 Nonsynonymous SNV R488K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 277375 chr1 41475927 41475927 G A rs754165744 CTPS1 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 277376 chr16 3141594 3141594 C T rs368316207 ZSCAN10 Nonsynonymous SNV C108Y 0 0 0 2 0 0 0.005 0 0 0 0 0 15.84 277377 chr6 112024188 112024188 A G rs766191397 FYN Synonymous SNV H199H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.049 277378 chr7 35414587 35414587 T A rs867577363 LOC401324 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 277379 chr7 43918685 43918685 T C rs1002832860 URGCP Nonsynonymous SNV N117S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.707 277380 chr17 5264868 5264868 G A rs768225842 RABEP1 Synonymous SNV A444A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 277381 chr17 73564565 73564565 G A rs959407705 LLGL2 Nonsynonymous SNV D349N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 277382 chr1 53559231 53559231 G A rs761747423 SLC1A7 Synonymous SNV G161G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 277383 chr17 73839304 73839304 C T rs371943727 UNC13D Nonsynonymous SNV R66H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277384 chr6 138584706 138584706 G T rs138956668 ARFGEF3 Nonsynonymous SNV V696L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 277385 chr6 139266738 139266738 G A rs768153733 REPS1 Nonsynonymous SNV S125L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 277386 chr1 55088959 55088959 C T rs374572716 FAM151A Nonsynonymous SNV R37Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.046 277387 chr7 1515988 1515988 G A rs201816869 INTS1 Nonsynonymous SNV T1752I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.959 277388 chr17 56774172 56774172 G A rs587780838 RAD51C Nonsynonymous SNV A175T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.7 277389 chr7 4821215 4821215 G A rs369340724 AP5Z1 Nonsynonymous SNV V66I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.768 277390 chr7 4830955 4830960 CCCTGG - rs754694053 AP5Z1 A634_L635del 0.001 0 0 0 1 0 0 0 0 0 0 0 277391 chr7 4855077 4855077 G A rs192442161 RADIL Synonymous SNV P657P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.111 277392 chr6 151152982 151152982 G A rs149488054 PLEKHG1 Nonsynonymous SNV R873H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.697 277393 chr7 5256262 5256262 G A rs139090506 WIPI2 Synonymous SNV T91T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.463 277394 chr17 10248524 10248524 C T rs759063489 MYH13 Nonsynonymous SNV E527K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277395 chr6 152651567 152651567 C G rs766721753 SYNE1 Nonsynonymous SNV K4680N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 277396 chr6 152651656 152651656 C T rs35484093 SYNE1 Nonsynonymous SNV E4651K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.09 277397 chr7 6189843 6189843 C T rs61752591 USP42 Synonymous SNV N672N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.941 277398 chr7 12380019 12380019 T C rs768360768 VWDE Nonsynonymous SNV N1317S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 277399 chr6 155116168 155116168 G A rs143145134 SCAF8 Synonymous SNV P167P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 277400 chr7 64167487 64167487 G A rs560501276 ZNF107 Nonsynonymous SNV E306K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 277401 chr17 66416474 66416474 G C ARSG Nonsynonymous SNV R483T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.612 277402 chr17 7011825 7011825 A G rs199742401 ASGR2 Nonsynonymous SNV F84S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.9 277403 chr16 72993366 72993366 C T rs140855443 ZFHX3 Nonsynonymous SNV V227I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 277404 chr6 161016524 161016524 G A rs202097627 LPA Nonsynonymous SNV R1111C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 277405 chr17 79782385 79782385 C T rs367766427 MCRIP1 Nonsynonymous SNV A21T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 277406 chr6 167435967 167435967 T C FGFR1OP Nonsynonymous SNV L170P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.807 277407 chr17 72436608 72436608 G C rs142124696 GPRC5C Synonymous SNV L231L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 277408 chr17 20919087 20919087 G A rs751768612 USP22 Synonymous SNV D272D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 277409 chr7 889586 889586 C T rs757867162 SUN1 Nonsynonymous SNV L40F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.062 277410 chr16 83712041 83712041 G A rs774928488 CDH13 Nonsynonymous SNV D466N 0 0 0 1 0 0 0.003 0 0 0 0 0 31 277411 chr7 99700297 99700297 G A AP4M1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 277412 chr7 37136228 37136228 C T rs140361812 ELMO1 Synonymous SNV E432E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 277413 chr7 4839843 4839843 G A rs767435307 RADIL Stop gain R981X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 277414 chr7 6150838 6150838 C G rs141397005 USP42 Nonsynonymous SNV A25G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 277415 chr17 72843633 72843633 C G rs149675994 GRIN2C Synonymous SNV L605L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.21 277416 chr8 110489481 110489481 - T rs771651990 PKHD1L1 Frameshift insertion Q2983Sfs*10 0.001 0 0.003 0 1 0 0 1 0 0 0 0 277417 chr16 88495546 88495546 T C ZNF469 Synonymous SNV P556P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 277418 chr17 76557994 76557994 T C rs139704186 DNAH17 Synonymous SNV S546S 0.003 0.003 0.003 1 3 1 0.003 1 0 0 0 0 3.386 277419 chr7 48146494 48146494 T C rs374185275 UPP1 Nonsynonymous SNV I17T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 277420 chr8 126059531 126059531 T C rs144507279 WASHC5 Nonsynonymous SNV I660V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.8 277421 chr1 114354494 114354494 C T RSBN1 Nonsynonymous SNV A181T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 277422 chr8 131848558 131848558 G A rs749792907 ADCY8 Synonymous SNV L880L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.903 277423 chr17 34072153 34072153 G A rs202079733 GAS2L2 Nonsynonymous SNV P788L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 277424 chr7 21932167 21932167 C T rs142585703 DNAH11 Nonsynonymous SNV P4211L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25 277425 chr7 25175857 25175857 G A rs139517301 C7orf31 Nonsynonymous SNV H503Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.465 277426 chr17 35538295 35538295 G T rs763027565 ACACA Synonymous SNV I1498I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 277427 chr18 47803308 47803308 G A rs143587192 MBD1 Nonsynonymous SNV R96W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 277428 chr7 75608776 75608776 A T rs782037392 POR Nonsynonymous SNV N82I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 277429 chr17 80038687 80038687 G A rs201913904 FASN Nonsynonymous SNV S2236F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.97 277430 chr17 80046084 80046084 G C rs201967800 FASN Nonsynonymous SNV T898R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 277431 chr7 77484074 77484074 G A rs367760259 PHTF2 Nonsynonymous SNV A24T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.403 277432 chr8 144653122 144653122 A G rs373339997 MROH6 Synonymous SNV R215R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.472 277433 chr18 55309272 55309272 G A LOC100505549 0.001 0 0 2 1 0 0.005 0 0 0 0 0 3.441 277434 chr7 87173495 87173495 T G ABCB1 Nonsynonymous SNV N721H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 277435 chr1 152127777 152127777 C A rs202195555 RPTN Nonsynonymous SNV G600W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.1 277436 chr17 80789789 80789789 G C rs748495076 ZNF750 Nonsynonymous SNV T181R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 277437 chr17 80895166 80895166 T C rs750897191 TBCD Synonymous SNV L1071L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.661 277438 chr15 56385754 56385754 G A RFX7 Nonsynonymous SNV S1294L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 277439 chr7 92244486 92244486 T A rs140409009 CDK6 Nonsynonymous SNV S317C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.834 277440 chr15 56736767 56736767 G A rs16976912 MNS1 Synonymous SNV Y187Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 277441 chr17 79898714 79898714 G A rs145256888 MYADML2 Nonsynonymous SNV R302C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277442 chr17 882906 882906 G A rs762188102 NXN Synonymous SNV L5L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.33 277443 chr17 9281873 9281873 A G rs138013675 STX8 Synonymous SNV S213S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.621 277444 chr7 97851009 97851009 C T rs760164335 TECPR1 Nonsynonymous SNV A1041T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 277445 chr18 61602306 61602306 G T SERPINB10 Nonsynonymous SNV V342L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 277446 chr8 17055920 17055920 A G rs778911796 ZDHHC2 Synonymous SNV P113P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 277447 chr18 31319132 31319132 T C rs779969887 ASXL3 Synonymous SNV I588I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.055 277448 chr8 17882872 17882872 A G rs201406814 PCM1 Synonymous SNV E1784E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 277449 chr18 3187552 3187552 G A MYOM1 Synonymous SNV S285S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.51 277450 chr17 40963772 40963772 T C BECN1 Nonsynonymous SNV D362G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 277451 chr18 21501003 21501003 C T rs35737354 LAMA3 Synonymous SNV N1011N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 277452 chr18 40853797 40853797 G A rs781574985 SYT4 Synonymous SNV L199L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.874 277453 chr17 42228389 42228389 G A HROB Nonsynonymous SNV A429T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 277454 chr7 87564361 87564361 C T rs199723886 ADAM22 Synonymous SNV L35L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 277455 chr7 91771741 91771741 G A rs989530908 CYP51A1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.59 277456 chr7 94903400 94903400 G A rs200547261 PPP1R9A Synonymous SNV A1032A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 277457 chr1 165624617 165624617 G A MGST3 Nonsynonymous SNV R112H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 277458 chr7 98782625 98782625 G A rs374319433 KPNA7 Nonsynonymous SNV A354V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 277459 chr8 30705023 30705023 T G TEX15 Nonsynonymous SNV K887T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 277460 chr7 99696918 99696918 C G rs181666859 MCM7 Nonsynonymous SNV E129Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.3 277461 chr7 100404129 100404129 G A rs201140601 EPHB4 Synonymous SNV S799S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 277462 chr8 3432491 3432491 G C CSMD1 Synonymous SNV V440V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 277463 chr8 37605215 37605215 T C rs193126107 LOC728024 0 0 0.003 0 0 0 0 1 0 0 0 0 6.175 277464 chr8 37605507 37605507 A G rs537130939 LOC728024 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 277465 chr19 13189496 13189496 C T rs771523710 NFIX Nonsynonymous SNV P341L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 277466 chr8 53853130 53853130 C G rs149687434 NPBWR1 Synonymous SNV V221V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 277467 chr8 57080047 57080047 A G rs1027544094 PLAG1 Synonymous SNV H4H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 277468 chr8 6699328 6699328 A G rs970550937 GS1-24F4.2 0 0 0.003 0 0 0 0 1 0 0 0 0 4.075 277469 chr18 6851054 6851054 C T rs749554860 ARHGAP28 Nonsynonymous SNV H30Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 277470 chr7 128495329 128495329 C T FLNC Synonymous SNV L2371L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 277471 chr18 76754181 76754181 T C SALL3 Synonymous SNV R730R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.454 277472 chr8 77762597 77762597 A G rs370162474 ZFHX4 Synonymous SNV S1321S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 277473 chr18 7231407 7231407 G A LRRC30 Nonsynonymous SNV G91R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 277474 chr8 95802125 95802125 C A rs140198354 DPY19L4 Nonsynonymous SNV S720Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 277475 chr18 6978328 6978328 G T LAMA1 Nonsynonymous SNV S2019R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.495 277476 chr8 9620691 9620691 T C rs141570530 TNKS Synonymous SNV N1103N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.736 277477 chr7 138604063 138604063 G A rs542413742 KIAA1549 Synonymous SNV H103H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.183 277478 chr19 10224977 10224977 C T rs368573040 P2RY11, PPAN-P2RY11 Nonsynonymous SNV R230W 0 0.003 0 0 0 1 0 0 0 0 0 0 16.11 277479 chr7 140389501 140389501 G A rs577482372 ADCK2 Synonymous SNV R554R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 277480 chr9 102778606 102778606 C T ERP44 Nonsynonymous SNV E254K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 277481 chr19 10221527 10221527 G A rs752291134 PPAN, PPAN-P2RY11 Nonsynonymous SNV E343K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 277482 chr9 104499755 104499755 A T GRIN3A Synonymous SNV P169P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.153 277483 chr9 106858480 106858480 A G SMC2 Nonsynonymous SNV I74V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 277484 chr1 201762994 201762994 C G NAV1 Synonymous SNV A741A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.73 277485 chr9 109691447 109691447 G A rs141348266 ZNF462 Nonsynonymous SNV D1752N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 277486 chr7 143826586 143826586 C T rs771723186 OR2A14 Synonymous SNV H127H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.462 277487 chr9 113168829 113168829 G A rs760819566 SVEP1 Synonymous SNV V3017V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.029 277488 chr7 148963737 148963737 G C ZNF783 Synonymous SNV R112R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.16 277489 chr7 150164095 150164095 C T rs145682936 GIMAP8 Synonymous SNV I103I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 277490 chr9 114860897 114860897 C A rs748822288 SUSD1 Nonsynonymous SNV A443S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.545 277491 chr9 115030345 115030345 T C rs746152938 PTBP3 Nonsynonymous SNV N45S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.727 277492 chr17 7250486 7250486 G A rs748481870 ACAP1 Nonsynonymous SNV C423Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 277493 chr19 13044486 13044486 G C FARSA Nonsynonymous SNV L9V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.502 277494 chr7 156743188 156743188 A G rs370964359 NOM1 Nonsynonymous SNV S253G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.231 277495 chr9 125273825 125273828 TCTC - rs780949007 OR1J2 L250Ifs*14 0 0 0.007 0 0 0 0 2 0 0 0 0 277496 chr8 8234178 8234178 T A rs199715689 PRAG1 Nonsynonymous SNV I581F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.617 277497 chr8 8235055 8235055 G C rs11988457 PRAG1 Nonsynonymous SNV C288W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 277498 chr7 141673339 141673339 T C rs782360309 TAS2R38 Nonsynonymous SNV S51G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 277499 chr9 128725349 128725349 G C PBX3 Nonsynonymous SNV G319A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 277500 chr19 35941491 35941491 G A rs143092631 FFAR2 Nonsynonymous SNV R292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 277501 chr7 143771997 143771997 T A OR2A25 Nonsynonymous SNV S229T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 277502 chr7 143771998 143771998 C T OR2A25 Nonsynonymous SNV S229L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 277503 chr9 130710473 130710473 G A FAM102A Nonsynonymous SNV P23S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 277504 chr17 76210814 76210814 C G rs371312590 BIRC5 Synonymous SNV A55A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 277505 chr9 131285089 131285089 A G rs144164277 GLE1 Nonsynonymous SNV E192G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 277506 chr7 149491892 149491895 GACG - SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 277507 chr17 76450700 76450700 G A rs376846561 DNAH17 Nonsynonymous SNV P3420S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 277508 chr19 15563475 15563475 C A rs377759857 RASAL3 Nonsynonymous SNV R941L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.58 277509 chr9 131745797 131745797 C A rs772325269 NUP188 Synonymous SNV A643A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 277510 chr1 228467582 228467582 T C rs536322673 OBSCN Nonsynonymous SNV V2486A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 277511 chr1 228475395 228475395 C T rs778560620 OBSCN Nonsynonymous SNV A3182V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 277512 chr17 62045562 62045562 G A rs760518441 SCN4A Nonsynonymous SNV P286L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 15.73 277513 chr1 228548384 228548384 C G rs759486587 OBSCN Nonsynonymous SNV F6597L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.509 277514 chr7 151329213 151329213 C G PRKAG2 Synonymous SNV A108A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 277515 chr1 231935927 231935927 T C rs767846705 DISC1 Nonsynonymous SNV L466S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 277516 chr8 22885945 22885945 A G rs888381397 TNFRSF10B Nonsynonymous SNV I216T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 277517 chr9 136308530 136308530 C T rs781923426 ADAMTS13 Synonymous SNV A756A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 277518 chr8 23147854 23147854 C T rs115169267 R3HCC1 Synonymous SNV L242L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.191 277519 chr19 19606665 19606665 G A GATAD2A Nonsynonymous SNV V243I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 277520 chr19 40520371 40520371 A G rs758648271 ZNF546 Synonymous SNV S372S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.889 277521 chr1 238048130 238048130 G A rs199631612 ZP4 Synonymous SNV S443S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.19 277522 chr9 139304817 139304817 G C rs750626467 ENTR1 Synonymous SNV T11T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.338 277523 chr9 139345852 139345852 C T rs368869600 SEC16A Synonymous SNV S2056S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 277524 chr19 18896645 18896645 G A rs759913580 COMP Synonymous SNV D502D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 14.02 277525 chr8 10465461 10465461 C A rs200913755 RP1L1 Nonsynonymous SNV Q2049H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.796 277526 chr8 38827064 38827064 C T PLEKHA2 Synonymous SNV A347A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 277527 chr19 41858918 41858918 A T rs867906741 TGFB1 Nonsynonymous SNV L11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.59 277528 chr8 13425276 13425276 G C rs956633330 C8orf48 Nonsynonymous SNV R259T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 277529 chr17 8273061 8273061 C G rs149282797 KRBA2 Nonsynonymous SNV K208N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 277530 chr19 21720750 21720750 G A rs371339989 ZNF429 Nonsynonymous SNV R568Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.922 277531 chr19 44030448 44030448 G C ETHE1 Nonsynonymous SNV L83V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.89 277532 chr8 61757602 61757602 G A CHD7 Nonsynonymous SNV R1677Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 277533 chr16 57486775 57486775 G A rs748239782 COQ9 Nonsynonymous SNV R102H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 277534 chr19 44096387 44096387 C T rs753926514 IRGQ Nonsynonymous SNV E555K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 277535 chr9 15744541 15744541 C G rs200484184 CCDC171 Nonsynonymous SNV Q782E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.25 277536 chr8 72755801 72755801 G A rs770335441 MSC-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.566 277537 chr19 44933513 44933513 C A rs201533514 ZNF229 Nonsynonymous SNV K475N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.4 277538 chr8 90775193 90775193 A G rs200818100 RIPK2 Nonsynonymous SNV N104D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.44 277539 chr18 2700613 2700613 A G rs117771893 SMCHD1 Synonymous SNV E473E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 4.392 277540 chr8 94798483 94798483 C T rs752362727 TMEM67 Nonsynonymous SNV R441C 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 35 277541 chr8 95502257 95502257 T C rs147465632 VIRMA Nonsynonymous SNV T1732A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 277542 chr9 35736105 35736105 C G rs183600592 CREB3 Synonymous SNV T224T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.976 277543 chr2 10582036 10582036 C T rs754692194 ODC1 Synonymous SNV E182E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.763 277544 chr8 101271294 101271294 T C rs747889244 RNF19A Synonymous SNV A669A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.887 277545 chr8 102649139 102649139 G A rs34550163 GRHL2 Synonymous SNV T484T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.27 277546 chr8 27516955 27516955 G A rs3735754 SCARA3 Nonsynonymous SNV R423Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 277547 chr16 70680857 70680857 C T rs772446015 IL34 Nonsynonymous SNV R3W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 277548 chr8 27845097 27845097 G A rs370783416 SCARA5 Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 277549 chr9 5747402 5747402 C G rs768734697 RIC1 Nonsynonymous SNV S450C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 277550 chr19 38385952 38385952 G A rs761835077 WDR87 Stop gain R131X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 277551 chr9 712130 712130 T C rs753656946 KANK1 Nonsynonymous SNV I297T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 277552 chr8 41456817 41456817 C A GPAT4 Synonymous SNV I53I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 277553 chr8 41791193 41791193 T C KAT6A Synonymous SNV E1515E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 277554 chr8 42046511 42046511 C T rs202117167 PLAT Nonsynonymous SNV R65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 277555 chr9 79002397 79002397 C T rs146146902 RFK Nonsynonymous SNV R129Q 0 0.005 0.003 0 0 2 0 1 0 0 0 0 11.64 277556 chr8 59358540 59358540 T G UBXN2B Nonsynonymous SNV L203R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 277557 chr8 67577457 67577457 A G VCPIP1 Synonymous SNV F579F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 277558 chr8 70533375 70533375 C T SULF1 Nonsynonymous SNV R495C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 277559 chr19 38989883 38989883 G A rs536596969 RYR1 Nonsynonymous SNV G2343S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 277560 chr19 39061259 39061259 C T rs771741606 RYR1 Nonsynonymous SNV R4553W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 277561 chr8 141542643 141542643 G T AGO2 Synonymous SNV I747I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.704 277562 chr19 42858756 42858756 C T rs746330794 MEGF8 Nonsynonymous SNV A1276V 0 0.003 0 0 0 1 0 0 0 0 0 0 21 277563 chr8 143831823 143831823 C T rs765580069 LYPD2 Nonsynonymous SNV G86S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 277564 chr8 144657405 144657405 C T rs149178575 NAPRT Nonsynonymous SNV A441T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 277565 chr8 144671369 144671369 C T rs138059210 EEF1D Nonsynonymous SNV D295N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.434 277566 chr19 5135484 5135484 G A rs768283280 KDM4B Synonymous SNV T740T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 277567 chr8 110257561 110257561 G A rs777014893 NUDCD1 Synonymous SNV F454F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.41 277568 chr8 144940815 144940815 - CGGA EPPK1 Frameshift insertion G2203Sfs*208 0.001 0 0 0 1 0 0 0 0 0 0 0 277569 chr8 144940826 144940826 - CGGAGGCGGACA EPPK1 Q2198_D2199insVSAS 0.001 0 0 0 1 0 0 0 0 0 0 0 277570 chrX 150349864 150349864 C T rs759844066 GPR50 Synonymous SNV V603V 0 0 0.007 0 0 0 0 2 0 0 1 0 12.7 277571 chr8 144997629 144997629 G A rs782284647 PLEC Synonymous SNV A2142A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.81 277572 chr2 44565526 44565526 C A PREPL Synonymous SNV V373V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.03 277573 chrX 153037065 153037065 G A rs782163257 PLXNB3 Synonymous SNV P824P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.448 277574 chrX 153039753 153039753 C T rs868946447 PLXNB3 Nonsynonymous SNV A1211V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.696 277575 chr8 145584072 145584072 G A rs143091206 SLC52A2 Nonsynonymous SNV R307H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.12 277576 chr19 45162013 45162013 G C PVR Nonsynonymous SNV G332A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 277577 chr2 55792158 55792158 G A rs150589498 PPP4R3B Nonsynonymous SNV T567I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.38 277578 chr18 34273227 34273227 C G rs533572045 FHOD3 Nonsynonymous SNV R501G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 277579 chr19 46032696 46032696 A G OPA3 Nonsynonymous SNV M54T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 277580 chrX 48896697 48896697 C T rs149950072 TFE3 Nonsynonymous SNV V52I 0 0 0.007 0 0 0 0 2 0 0 1 0 21.2 277581 chr8 141407834 141407834 G A rs143778652 TRAPPC9 Nonsynonymous SNV A331V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 277582 chrX 54836430 54836430 G C MAGED2 Nonsynonymous SNV K107N 0 0 0.007 0 0 0 0 2 0 0 1 0 1.092 277583 chr9 2718240 2718240 C T rs756486876 KCNV2 Synonymous SNV S167S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 277584 chrX 69500654 69500654 C T rs140505250 ARR3 Nonsynonymous SNV P351L 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 34 277585 chrX 70099842 70099842 A T TEX11 Nonsynonymous SNV I52N 0 0 0.007 0 0 0 0 2 0 0 1 0 6.491 277586 chr9 15444615 15444615 G A rs762356219 SNAPC3 Nonsynonymous SNV G165R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 277587 chr19 11529355 11529355 C T RGL3 Nonsynonymous SNV G47S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 277588 chr2 74687600 74687600 C G rs746492371 WBP1 Nonsynonymous SNV P201R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.42 277589 chr10 102798401 102798401 G A rs149861682 SFXN3 Nonsynonymous SNV R262H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 277590 chr19 56002402 56002402 C T rs376072850 SSC5D Nonsynonymous SNV R284W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277591 chr10 105331274 105331274 G C NEURL1 Nonsynonymous SNV C115S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 277592 chr18 74667949 74667949 C T rs778242204 ZNF236 Synonymous SNV G1641G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 277593 chr19 51522381 51522381 T C rs545567570 KLK10 Synonymous SNV R2R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.967 277594 chr9 12694130 12694130 T C TYRP1 Nonsynonymous SNV L45P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 277595 chr9 13136132 13136134 CTA - MPDZ V1414del 0.001 0 0 0 1 0 0 0 0 0 0 0 277596 chr9 13147603 13147603 G A rs530316767 MPDZ Nonsynonymous SNV R1229W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 277597 chr9 15175039 15175039 T C rs80279305 TTC39B Nonsynonymous SNV I577V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.61 277598 chr9 15177718 15177718 T C rs77494837 TTC39B Synonymous SNV L537L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.646 277599 chr19 53612924 53612924 C T ZNF415 Nonsynonymous SNV R125H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 277600 chr9 95267819 95267819 A G rs534728316 ECM2 Nonsynonymous SNV I465T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 277601 chr10 124457991 124457991 A G rs754513341 C10orf120 Nonsynonymous SNV I89T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 277602 chr19 54307304 54307304 C G rs143499267 NLRP12 Synonymous SNV L830L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.543 277603 chr19 18376146 18376146 A G IQCN Nonsynonymous SNV L735P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 277604 chr9 98209680 98209680 G A PTCH1 Synonymous SNV P1234P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.009 277605 chr9 26980607 26980607 G A IFT74 Nonsynonymous SNV G99R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 277606 chr19 10742568 10742568 G A rs148881490 SLC44A2 Synonymous SNV A215A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.72 277607 chr9 33466653 33466653 G A rs374965069 NOL6 Nonsynonymous SNV L669F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 277608 chr19 10941702 10941702 C T rs373161548 DNM2 Synonymous SNV A860A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 277609 chr9 35043176 35043176 T C rs972136157 C9orf131 Nonsynonymous SNV S149P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 277610 chr9 35546753 35546753 C T rs754086910 RUSC2 Nonsynonymous SNV R79W 0.001 0 0 0 1 0 0 0 0 0 0 0 14 277611 chr9 104162261 104162261 G A rs770167996 ZNF189 Star tloss M29I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 277612 chr19 53573403 53573403 G C rs200786878 ZNF160 Nonsynonymous SNV D128E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 277613 chr10 134999993 134999993 C T rs754002499 KNDC1 Nonsynonymous SNV R381C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 277614 chr10 135015259 135015259 G A rs567311841 KNDC1 Nonsynonymous SNV G1082S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.277 277615 chr19 8152012 8152012 C T rs754675590 FBN3 Nonsynonymous SNV V2235I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.014 277616 chr10 135193848 135193848 C T rs776562504 PAOX Nonsynonymous SNV T176I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 277617 chr19 56249592 56249592 G T rs143301793 NLRP9 Nonsynonymous SNV A50D 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 277618 chr9 113259197 113259197 T C SVEP1 Synonymous SNV Q566Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.218 277619 chr19 56565126 56565126 C T rs572932270 NLRP5 Nonsynonymous SNV A1084V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 277620 chr19 56704196 56704196 C T rs769100111 ZSCAN5B Nonsynonymous SNV D76N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 277621 chr10 25885716 25885716 C T rs566299810 GPR158 Nonsynonymous SNV R715W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 277622 chr19 5696701 5696701 G A rs756969382 LONP1 Nonsynonymous SNV P389S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 277623 chr19 55879708 55879708 T C rs746730859 IL11 Nonsynonymous SNV D21G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 277624 chr19 57329117 57329117 G C rs144150136 PEG3, ZIM2 Nonsynonymous SNV R287G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 26.5 277625 chr9 97365682 97365682 T C rs768728743 FBP1 Nonsynonymous SNV E333G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 277626 chr9 100983166 100983166 G A rs372645893 TBC1D2 Synonymous SNV D441D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.909 277627 chr10 38121514 38121514 G C rs772227932 ZNF248 Nonsynonymous SNV L257V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.389 277628 chr9 125273866 125273866 G A rs755875772 OR1J2 Synonymous SNV P262P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.664 277629 chr19 57642400 57642400 C T USP29 Nonsynonymous SNV A786V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.42 277630 chr9 115759879 115759879 T G rs76862287 ZNF883 Nonsynonymous SNV T221P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.728 277631 chr10 61828814 61828814 T C rs148549519 ANK3 Nonsynonymous SNV K3942R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.071 277632 chr10 62645987 62645987 G A rs144676711 RHOBTB1 Synonymous SNV D366D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.767 277633 chr10 63170389 63170389 G A rs185882745 TMEM26 Synonymous SNV G266G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.351 277634 chr9 132854602 132854602 A G rs140764313 GPR107 Nonsynonymous SNV M269V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.98 277635 chr9 124044746 124044746 C T rs549421941 GSN Nonsynonymous SNV T6M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.37 277636 chr19 2933528 2933528 C T rs755967942 ZNF77 Nonsynonymous SNV A533T 0 0 0 2 0 0 0.005 0 0 0 0 0 8.387 277637 chr9 133946903 133946903 G A rs778333210 LAMC3 Synonymous SNV T1034T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 277638 chr10 75529374 75529374 A G rs187428792 SEC24C Synonymous SNV A855A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.853 277639 chr2 219561851 219561851 C T rs150037304 STK36 Synonymous SNV P871P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 12.81 277640 chr2 220072649 220072649 G A rs781626503 ZFAND2B Nonsynonymous SNV R64Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 34 277641 chr10 92912268 92912268 G A rs147757005 NUDT9P1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.302 277642 chr9 134525623 134525623 T C rs776221362 RAPGEF1 Nonsynonymous SNV T70A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.49 277643 chr10 98742837 98742837 A G LCOR Nonsynonymous SNV S874G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 277644 chr10 98994978 98994978 A G ARHGAP19 Nonsynonymous SNV I398T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 277645 chr2 231404075 231404075 A T SP100 Nonsynonymous SNV I730F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 277646 chr11 100998944 100998944 G C rs200529590 PGR Nonsynonymous SNV D286E 0 0 0.007 0 0 0 0 2 0 0 0 0 13.63 277647 chr19 46520288 46520288 G A rs61745745 CCDC61 Nonsynonymous SNV C424Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 277648 chr1 152324286 152324286 C G rs1858484 FLG2 Nonsynonymous SNV E1992D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 277649 chr10 12077155 12077155 C T rs150016697 UPF2 Nonsynonymous SNV E90K 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 22.7 277650 chr1 10725218 10725218 C T rs772313959 CASZ1 Nonsynonymous SNV G143S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.496 277651 chr10 1070568 1070568 A G rs929566148 IDI2 Synonymous SNV G32G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.446 277652 chr11 102824905 102824905 G A rs769733639 MMP13 Nonsynonymous SNV T206I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 277653 chr11 103024232 103024232 G A DYNC2H1 Synonymous SNV K1099K 0 0 0.007 0 0 0 0 2 0 0 0 0 11.53 277654 chr1 120438486 120438486 G A rs751092074 ADAM30 Synonymous SNV V158V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.576 277655 chr10 7239537 7239537 C A rs200717836 SFMBT2 Synonymous SNV P557P 0.002 0 0 0 2 0 0 0 0 0 0 0 18.41 277656 chr2 242407750 242407750 G A rs368395104 FARP2 Nonsynonymous SNV G697R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.593 277657 chr11 113141109 113141109 C T rs782201326 NCAM1 Synonymous SNV A767A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 277658 chr10 14894446 14894446 T G rs748227134 HSPA14 Nonsynonymous SNV V217G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 277659 chr11 116734386 116734386 G C SIK3 Nonsynonymous SNV Q653E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 277660 chr11 116745909 116745909 T C rs61907564 SIK3 Synonymous SNV S416S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.41 277661 chr10 45484751 45484751 C T rs184214737 RASSF4 Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 277662 chr10 46967470 46967470 G A rs201185868 LOC102724488, SYT15 Nonsynonymous SNV R87C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 277663 chr1 12009845 12009845 G A rs146092290 PLOD1 Nonsynonymous SNV E62K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21 277664 chr10 28023632 28023632 G T rs139722718 MKX Synonymous SNV V197V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.43 277665 chr10 50819473 50819473 G T rs755075120 SLC18A3 Synonymous SNV P229P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.94 277666 chr10 61834132 61834132 C G ANK3 Synonymous SNV V2169V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.41 277667 chr1 1560984 1560984 A C MIB2 Nonsynonymous SNV Q358P 0 0.003 0 0 0 1 0 0 0 0 0 0 22 277668 chr1 151111901 151111901 C T rs199682535 SEMA6C Synonymous SNV T118T 0 0 0 3 0 0 0.008 0 0 0 0 0 17.76 277669 chr11 125324061 125324061 G A rs771840165 FEZ1 Nonsynonymous SNV R329C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 277670 chr10 69881773 69881773 A G rs573684358 MYPN Nonsynonymous SNV Q193R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 277671 chr1 1190595 1190595 G A rs779886665 UBE2J2 Synonymous SNV I204I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 14.92 277672 chr10 70645893 70645893 G A rs759561304 STOX1 Nonsynonymous SNV E781K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 277673 chr11 128556336 128556336 G A rs146389628 LOC101929538 0 0 0.01 0 0 0 0 3 0 0 0 0 9.645 277674 chr10 70945800 70945800 G T SUPV3L1 Nonsynonymous SNV G110V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 277675 chr18 18983845 18983845 G A rs147048716 GREB1L Nonsynonymous SNV R241Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 277676 chr11 17656452 17656452 C G rs752641698 OTOG Synonymous SNV L2526L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.39 277677 chr10 72292441 72292441 G T rs145337663 PALD1 Nonsynonymous SNV W233L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.516 277678 chr11 18528463 18528463 G A TSG101 Synonymous SNV Y163Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.545 277679 chr10 72297587 72297587 C T rs112425467 PALD1 Synonymous SNV S416S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 277680 chr11 193825 193825 G A rs377370975 SCGB1C1, SCGB1C2 Nonsynonymous SNV E57K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.452 277681 chr10 91486081 91486081 T G rs763106606 KIF20B Nonsynonymous SNV I678S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.87 277682 chr10 74879835 74879835 C T rs145352986 NUDT13 Nonsynonymous SNV A48V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 277683 chr10 75264652 75264652 C T rs139288319 USP54 Nonsynonymous SNV V1361I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 277684 chr10 82363449 82363449 G A rs754425661 SH2D4B Nonsynonymous SNV S204N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 277685 chr3 48302424 48302424 C G ZNF589 Stop gain S73X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.8 277686 chr10 98133387 98133387 C T rs143643086 TLL2 Synonymous SNV V876V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 277687 chr11 27528435 27528435 C T rs578259658 BDNF-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 7.045 277688 chr3 49846411 49846411 - T rs765744000 UBA7 Frameshift insertion F782Yfs*4 0 0 0.003 1 0 0 0.003 1 0 0 0 0 277689 chr3 49846412 49846412 A C rs143260328 UBA7 Nonsynonymous SNV F782V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.933 277690 chr3 49897954 49897954 C T CAMKV Synonymous SNV E268E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.43 277691 chr10 100177944 100177944 C T rs148225281 HPS1 Nonsynonymous SNV G523E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 277692 chr3 51746981 51746981 A G rs143181148 GRM2 Nonsynonymous SNV I315V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.06 277693 chr11 32954772 32954772 T C QSER1 Synonymous SNV S656S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 277694 chr10 95191264 95191264 G A rs200611039 MYOF Synonymous SNV G82G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.545 277695 chr10 101572804 101572804 T C rs779584212 ABCC2 Nonsynonymous SNV L666P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 277696 chr10 103900887 103900887 G A rs184648881 PPRC1 Synonymous SNV S874S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.221 277697 chr3 53834329 53834329 G A rs150463212 CACNA1D Synonymous SNV S1644S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.5 277698 chr19 7056594 7056594 C T rs775066799 MBD3L3 Synonymous SNV T122T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.945 277699 chr10 112541394 112541394 C T rs112226602 RBM20 Nonsynonymous SNV H343Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 277700 chr10 102584724 102584724 C T PAX2 Nonsynonymous SNV P363S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 277701 chr11 47611669 47611671 AGA - rs755995109 C1QTNF4 F231del 0 0 0.003 0 0 0 0 1 0 0 0 0 277702 chr10 102763332 102763332 G A rs370325267 LZTS2 Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 277703 chr1 17281997 17281997 A G rs957801955 CROCC Nonsynonymous SNV N1219S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 277704 chr1 186084058 186084058 G A rs543213159 HMCN1 Nonsynonymous SNV R3795Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 277705 chr10 121551678 121551678 C T INPP5F Stop gain R208X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 277706 chr1 19215881 19215881 G A rs780508077 ALDH4A1 Nonsynonymous SNV T15M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 277707 chr3 100604992 100604992 C T ABI3BP Nonsynonymous SNV V220I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.631 277708 chr10 115986940 115986940 C T TDRD1 Synonymous SNV V1091V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 277709 chr10 126694148 126694148 G A rs779110671 CTBP2 Nonsynonymous SNV T77M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.84 277710 chr10 121196201 121196201 G T rs965603990 GRK5 Synonymous SNV L259L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.391 277711 chr1 200378322 200378322 T C rs574013915 ZNF281 Nonsynonymous SNV H171R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.109 277712 chr10 133981734 133981734 C T rs879431315 JAKMIP3 Nonsynonymous SNV P937L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.815 277713 chr11 5322976 5322976 C T rs771589068 OR51B4 Synonymous SNV T67T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.442 277714 chr11 55340268 55340268 C A rs748367779 OR4C16 Nonsynonymous SNV S222Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 277715 chr3 121230875 121230875 G A rs778193670 POLQ Synonymous SNV G490G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 277716 chr11 294390 294390 C G rs115543936 PGGHG Synonymous SNV T644T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.28 277717 chr1 225156576 225156576 G A rs969958721 DNAH14 Nonsynonymous SNV R206Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 277718 chr1 200378262 200378262 T G ZNF281 Nonsynonymous SNV H191P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.49 277719 chr11 587329 587329 C T rs372704636 PHRF1 Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 277720 chr11 609668 609668 C G rs772244333 PHRF1 Synonymous SNV T1404T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.36 277721 chr1 205273397 205273397 C A NUAK2 Nonsynonymous SNV Q356H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.34 277722 chr11 617585 617585 G A rs564520780 CDHR5 Synonymous SNV G574G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.898 277723 chr1 226050482 226050482 C T TMEM63A Synonymous SNV L272L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 277724 chr11 720835 720835 G A EPS8L2 Synonymous SNV E161E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 277725 chr11 903032 903032 T C rs779066400 CHID1 Nonsynonymous SNV H64R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 277726 chr3 134322907 134322907 A G rs372961676 KY Synonymous SNV D484D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.04 277727 chr11 57427477 57427477 G A rs751598423 CLP1 Nonsynonymous SNV G177S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 277728 chr3 137885976 137885976 A G DBR1 Nonsynonymous SNV Y221H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 277729 chr19 9964925 9964925 G A rs139281596 OLFM2 Synonymous SNV N356N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 4.784 277730 chr11 59837690 59837690 C T rs772085517 MS4A3 Nonsynonymous SNV P87L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.776 277731 chr1 120311440 120311440 G A rs373202578 HMGCS2 Nonsynonymous SNV R10C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 277732 chr11 2424406 2424406 C T rs147679407 TSSC4 Synonymous SNV T181T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.13 277733 chr11 2427289 2427289 A G rs766394175 TRPM5 Nonsynonymous SNV L1095P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 277734 chr3 160141226 160141226 C T rs141584099 SMC4 Nonsynonymous SNV A678V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 277735 chr11 2436487 2436487 G C rs544080035 TRPM5 Nonsynonymous SNV T448S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 277736 chr11 6129646 6129646 T C rs374252894 OR56B4 Nonsynonymous SNV V213A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.501 277737 chr3 182988146 182988146 A G rs369205848 B3GNT5 Nonsynonymous SNV K187R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.786 277738 chr11 4674273 4674273 C T rs143137203 OR51E1 Nonsynonymous SNV R173C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 277739 chr1 226558201 226558201 C A PARP1 Nonsynonymous SNV M696I 0 0 0 1 0 0 0.003 0 0 0 0 0 34 277740 chr11 64854459 64854459 A G rs775149443 ZFPL1 Nonsynonymous SNV S181G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 277741 chr11 65267996 65267997 AA - rs563857678 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 277742 chr1 118693896 118693896 G A rs553484202 SPAG17 Nonsynonymous SNV R62C 0 0 0 2 0 0 0.005 0 0 0 0 0 29.5 277743 chr11 66191859 66191859 C A rs71457718 NPAS4 Nonsynonymous SNV Q290K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.76 277744 chr1 229678019 229678019 T G ABCB10 Nonsynonymous SNV K341Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 277745 chr1 33236431 33236431 C T KIAA1522 Nonsynonymous SNV P492S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.609 277746 chr11 7693708 7693708 G A rs201145173 CYB5R2 Nonsynonymous SNV P42L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 277747 chr11 6452495 6452495 G C rs544372651 HPX Synonymous SNV A445A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.419 277748 chr1 35870675 35870675 G A rs781081600 ZMYM4 Nonsynonymous SNV A870T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 277749 chr1 232650066 232650066 A G rs200049367 SIPA1L2 Synonymous SNV N340N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 277750 chr11 6645467 6645467 C T rs767286923 DCHS1 Synonymous SNV P2480P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.318 277751 chr1 151105216 151105216 A G SEMA6C Nonsynonymous SNV V838A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.851 277752 chr11 73516094 73516094 C T rs115268961 MRPL48 Nonsynonymous SNV T15I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.032 277753 chr19 39396002 39396002 C T rs750703860 NFKBIB Nonsynonymous SNV P63L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 277754 chr1 161476306 161476308 AAT - rs760608327 FCGR2A N97del 0.001 0 0 0 1 0 0 0 0 0 0 0 277755 chr1 43687794 43687794 A G CFAP57 Nonsynonymous SNV K787R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 277756 chr1 167097035 167097035 T A rs61748780 DUSP27 Synonymous SNV T889T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.9 277757 chr11 14665642 14665642 C G PDE3B Nonsynonymous SNV D7E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 277758 chr11 16816134 16816134 G A rs201484450 PLEKHA7 Synonymous SNV F882F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 277759 chr11 85435648 85435648 C T rs115489190 SYTL2 Nonsynonymous SNV V1585M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.755 277760 chr11 85701307 85701307 T C rs117411388 PICALM Nonsynonymous SNV H458R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.91 277761 chr4 15629580 15629580 G A FBXL5 Synonymous SNV N322N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.41 277762 chr11 17650763 17650763 C G OTOG Nonsynonymous SNV I2216M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 277763 chr1 53676223 53676223 A G rs145237292 CPT2 Nonsynonymous SNV S293G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.34 277764 chr11 35219761 35219761 T G CD44 Nonsynonymous SNV I254S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 277765 chr11 94277569 94277569 C T rs762934023 FUT4 Synonymous SNV G90G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 277766 chr1 178427170 178427172 GGT - RASAL2 G775del 0.004 0 0 0 5 0 0 0 0 0 0 0 277767 chr11 33053076 33053076 G C DEPDC7 Nonsynonymous SNV S312T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 277768 chr11 47202195 47202195 C G rs746884513 PACSIN3 Synonymous SNV T86T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 277769 chr11 36597937 36597937 C T rs771708758 RAG1 Nonsynonymous SNV P1028L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 277770 chr11 36615191 36615191 A G rs762907049 RAG2 Synonymous SNV A176A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 277771 chr1 44443026 44443026 T C ATP6V0B Synonymous SNV H243H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.42 277772 chr1 44477251 44477251 G C rs187474842 SLC6A9 Nonsynonymous SNV H77Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.39 277773 chr1 44607128 44607128 G T rs61745996 KLF18 Nonsynonymous SNV P59H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.925 277774 chr4 52883767 52883767 A G rs757646533 LRRC66 Nonsynonymous SNV Y5H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 277775 chr11 46750379 46750379 G A rs146742525 F2 Synonymous SNV T488T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.95 277776 chr11 47810074 47810074 G A rs141812661 NUP160 Nonsynonymous SNV P1201S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 277777 chr12 109185953 109185953 G C rs748828322 SSH1 Nonsynonymous SNV Q679E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.967 277778 chr11 48185939 48185939 G T rs956067552 PTPRJ Nonsynonymous SNV V1243F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 277779 chr12 112337518 112337518 A G rs765358791 ADAM1A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 277780 chr12 113344984 113344984 G A rs751350524 OAS1 Nonsynonymous SNV R47Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 277781 chr4 73942680 73942680 T G rs140843867 ANKRD17 Nonsynonymous SNV T2326P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 277782 chr12 117271725 117271725 C T rs578175959 RNFT2 Synonymous SNV I337I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 277783 chr1 85279851 85279851 G A rs143505669 LPAR3 Nonsynonymous SNV A247V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 277784 chr12 120750530 120750530 T A rs199707524 SIRT4 Nonsynonymous SNV L257M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 277785 chr1 86048154 86048154 T C rs762879999 CCN1 Synonymous SNV I230I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.139 277786 chr1 201331118 201331118 C T rs772300998 TNNT2 Synonymous SNV E198E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.82 277787 chr4 81967239 81967239 A G rs114620549 BMP3 Nonsynonymous SNV T222A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 277788 chr1 180217565 180217565 C T rs377503336 LHX4 Synonymous SNV S74S 0 0 0 2 0 0 0.005 0 0 0 0 0 17.86 277789 chr19 50365981 50365981 C T rs148491228 PNKP Synonymous SNV T277T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.74 277790 chr19 50393405 50393405 C A rs372789046 IL4I1 Nonsynonymous SNV G409V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 277791 chr1 180904951 180904951 G A rs188274594 KIAA1614 Nonsynonymous SNV A636T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.009 277792 chr12 124839089 124839089 C T rs748921061 NCOR2 Nonsynonymous SNV R1165Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 277793 chr12 13153388 13153388 - GCAGCAGT rs147879664 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 277794 chr12 132239988 132239988 G A rs139034136 SFSWAP Synonymous SNV Q504Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.54 277795 chr11 56185685 56185685 A G rs752828661 OR5R1 Synonymous SNV Y8Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 277796 chr1 19480266 19480266 G A rs748155653 UBR4 Nonsynonymous SNV A2209V 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 277797 chr11 57076139 57076139 G A rs143761660 TNKS1BP1 Nonsynonymous SNV A1349V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.67 277798 chr11 59480802 59480802 C T rs373712772 OR10V1 Nonsynonymous SNV D173N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 277799 chr11 59609959 59609959 G A rs370594493 CBLIF Synonymous SNV R156R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 277800 chr11 59940500 59940500 C T rs138650483 MS4A6A, MS4A6A Nonsynonymous SNV V218M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 277801 chr1 57397545 57397545 C T rs779852251 C8B Nonsynonymous SNV R520H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 277802 chr11 62420703 62420703 G A INTS5 Nonsynonymous SNV P7S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 277803 chr12 43925954 43925954 A G ADAMTS20 Synonymous SNV P166P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.921 277804 chr20 10541386 10541386 A G SLX4IP Synonymous SNV R52R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.03 277805 chr1 6453383 6453383 G A rs780737492 ACOT7 Nonsynonymous SNV S26F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.539 277806 chr11 61897982 61897982 A C INCENP Nonsynonymous SNV Q328P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.103 277807 chr11 62292024 62292024 T G rs753501713 AHNAK Nonsynonymous SNV N3289H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 277808 chr19 55800959 55800959 G T rs201729084 BRSK1 Synonymous SNV A143A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.233 277809 chr19 55993287 55993287 T A rs769912395 ZNF628 Nonsynonymous SNV S243T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.015 277810 chr1 7845057 7845057 C T rs376083256 PER3 Synonymous SNV S40S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.73 277811 chr12 49233798 49233798 T C DDX23 Nonsynonymous SNV K138E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 277812 chr1 214492305 214492305 C T rs146825577 SMYD2 Synonymous SNV S171S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.19 277813 chr11 64884936 64884936 G T rs34563314 ZNHIT2 Nonsynonymous SNV L64I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 277814 chr1 217947712 217947712 C T rs138799092 SPATA17 Nonsynonymous SNV P186S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 277815 chr11 66812117 66812117 C T rs202228241 SYT12 Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 21 277816 chr11 67265444 67265444 A G rs78790481 PITPNM1 Nonsynonymous SNV C576R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.9 277817 chr20 31671213 31671213 - C rs541992483 BPIFB4 Frameshift insertion V74Sfs*9 0.003 0.003 0 0 3 1 0 0 0 0 0 0 277818 chr12 53467149 53467149 C T rs374096283 SPRYD3 Nonsynonymous SNV R205H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 277819 chr20 33842430 33842430 C T rs373842436 MMP24 Synonymous SNV G230G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.21 277820 chr11 73021540 73021540 C T ARHGEF17 Synonymous SNV S619S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.669 277821 chr11 68853385 68853385 C T rs974601992 TPCN2 Nonsynonymous SNV R664C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 277822 chr12 57552358 57552358 A G LRP1 Nonsynonymous SNV T579A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 277823 chr12 57587438 57587438 G T LRP1 Nonsynonymous SNV G2592W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 277824 chr5 15928030 15928030 G A FBXL7 Synonymous SNV T6T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 277825 chr5 16475331 16475331 G A rs886060395 RETREG1 Nonsynonymous SNV P197L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.7 277826 chr11 75509422 75509424 CTC - rs754419321 DGAT2 S279del 0.001 0 0 0 1 0 0 0 0 0 0 0 277827 chr11 82976919 82976919 G A rs148744063 CCDC90B Nonsynonymous SNV R118C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 277828 chr1 233363092 233363092 G A rs369299908 PCNX2 Nonsynonymous SNV S795L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 277829 chr12 72665947 72665947 A C TRHDE-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.02 277830 chr11 94731271 94731271 G A rs782429808 KDM4D Synonymous SNV K245K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 277831 chr5 50111324 50111324 A T PARP8 Nonsynonymous SNV N545I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 277832 chr20 56137857 56137857 G A rs375564832 PCK1 Nonsynonymous SNV R171Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 277833 chr11 102995840 102995840 G T DYNC2H1 Nonsynonymous SNV S558I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 277834 chr1 24019191 24019191 G A rs777693669 RPL11 Synonymous SNV L33L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.989 277835 chr11 108151758 108151758 A G rs769853739 ATM Nonsynonymous SNV I1147V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.764 277836 chr12 94543086 94543086 C T PLXNC1 Synonymous SNV R113R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.29 277837 chr11 103043987 103043987 C T rs201953670 DYNC2H1 Synonymous SNV D1837D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 277838 chr11 103306691 103306691 C G rs771629625 DYNC2H1 Nonsynonymous SNV S4129R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 277839 chr1 3410942 3410942 G A rs61746904 MEGF6 Synonymous SNV C1374C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.186 277840 chr1 3417285 3417285 G A MEGF6 Synonymous SNV C873C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.227 277841 chr1 34630606 34630606 G C rs528265261 CSMD2 Synonymous SNV G31G 0.003 0 0 0 3 0 0 0 1 0 0 0 1.486 277842 chr20 61594963 61594963 A - rs777308571 SLC17A9 A252Pfs*138 0 0.003 0 0 0 1 0 0 0 0 0 0 277843 chr11 113205741 113205741 C T TTC12 Synonymous SNV A161A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 277844 chr20 62193258 62193258 G C rs769803495 HELZ2 Synonymous SNV G1634G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.24 277845 chr13 103528246 103528246 A C rs201911663 BIVM-ERCC5, ERCC5 Nonsynonymous SNV K1185T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.39 277846 chr11 119045723 119045723 C T rs145673513 NLRX1 Nonsynonymous SNV R471W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 277847 chr13 114529991 114529991 G A rs569174728 GAS6 Synonymous SNV F485F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.068 277848 chr1 109856899 109856899 T C SORT1 Nonsynonymous SNV H685R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 277849 chr5 79030550 79030550 G T rs372626687 CMYA5 Nonsynonymous SNV A1988S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.421 277850 chr1 110766221 110766221 C G rs761793237 KCNC4 Synonymous SNV G438G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.765 277851 chr11 123847412 123847412 T G rs76795438 OR10S1 Synonymous SNV P329P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.069 277852 chr11 123886688 123886688 G C OR10G4 Nonsynonymous SNV S136T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.036 277853 chr11 123909441 123909441 T C rs470208 OR10G7 Nonsynonymous SNV T90A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277854 chr11 123909638 123909638 G A rs148218442 OR10G7 Nonsynonymous SNV P24L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 277855 chr20 45905431 45905431 G A rs772590663 ZMYND8 Synonymous SNV Y344Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.461 277856 chr11 121393399 121393399 C A SORL1 Synonymous SNV L503L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 277857 chr20 47860232 47860232 T G rs150882317 DDX27 Synonymous SNV S788S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 10.45 277858 chr11 123596920 123596920 C T rs759714940 ZNF202 Nonsynonymous SNV A354T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.277 277859 chr13 34013858 34013858 G T rs529154952 STARD13 Nonsynonymous SNV L12I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.982 277860 chr1 47882305 47882305 C T rs756805401 FOXE3 Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 277861 chr20 57466871 57466871 G A rs144260225 GNAS Synonymous SNV L30L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.452 277862 chr11 126162383 126162383 C T rs202146623 TIRAP Stop gain Q27X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 277863 chr13 52718869 52718869 C T NEK3 Nonsynonymous SNV R254Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 277864 chr21 43321810 43321810 C T rs764846275 C2CD2 Nonsynonymous SNV R339Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 277865 chr13 73357758 73357758 A G rs115330455 PIBF1 Nonsynonymous SNV I51V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25 277866 chr13 73482674 73482674 A G PIBF1 Synonymous SNV L498L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.405 277867 chr12 2717707 2717707 G A rs188224114 CACNA1C Synonymous SNV T1129T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 7.579 277868 chr12 2786819 2786819 - A rs986293201 CACNA1C-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 277869 chr12 990885 990885 C T WNK1 Nonsynonymous SNV P800S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 277870 chr12 3923232 3923232 T C rs752549212 PARP11 Nonsynonymous SNV N143S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 277871 chr12 4721823 4721823 C T rs369097119 DYRK4 Synonymous SNV S134S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.362 277872 chr12 2968041 2968041 G T rs764795562 FOXM1 Synonymous SNV I670I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.56 277873 chr13 96642236 96642236 C T rs144698764 UGGT2 Nonsynonymous SNV E308K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 277874 chr13 97079494 97079494 G A rs890764573 MIR4501 0 0 0.003 0 0 0 0 1 0 0 0 0 1.849 277875 chr13 99532206 99532206 A C DOCK9 Nonsynonymous SNV F964L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 277876 chr12 6626544 6626544 C T rs968525819 NCAPD2 Nonsynonymous SNV T400I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 277877 chr12 6748180 6748180 C G ACRBP Nonsynonymous SNV Q483H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 277878 chr12 6626047 6626047 G C NCAPD2 Nonsynonymous SNV Q347H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 277879 chr12 7045903 7045903 - CAGCAGCAG ATN1 Q502_H503insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 277880 chr21 47532405 47532405 G A rs113017484 COL6A2 Nonsynonymous SNV E210K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 277881 chr21 47626586 47626586 C T rs149012686 LSS Nonsynonymous SNV G442R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 34 277882 chr21 15516996 15516996 A G rs151273428 LIPI Nonsynonymous SNV C385R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.43 277883 chr12 8800762 8800762 C T MFAP5 Synonymous SNV R85R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 277884 chr14 104644206 104644206 G A KIF26A Nonsynonymous SNV S1694N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 277885 chr14 105179883 105179883 G A INF2 Nonsynonymous SNV G994R 0 0 0.003 0 0 0 0 1 0 0 0 0 22 277886 chr21 48071904 48071904 A G rs756766196 PRMT2 Nonsynonymous SNV I281V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.237 277887 chr5 140731497 140731497 G A PCDHGB1 Nonsynonymous SNV R557Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 277888 chr22 24124625 24124625 A G rs757803888 MMP11 Nonsynonymous SNV R430G 0.001 0 0 0 1 0 0 0 0 0 0 0 13 277889 chr14 105618303 105618303 G A rs369610323 JAG2 Synonymous SNV D337D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.373 277890 chr12 10010216 10010216 G T rs144863576 CLEC2B Nonsynonymous SNV Q32K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277891 chr12 10780243 10780243 C T rs55732607 STYK1 Synonymous SNV A238A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.68 277892 chr12 11138721 11138721 C T rs138389090 TAS2R50 Nonsynonymous SNV V247I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 277893 chr14 21897308 21897308 C T rs753886912 CHD8 Nonsynonymous SNV V344M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 277894 chr12 13061795 13061795 G A rs147078198 GPRC5A Synonymous SNV T204T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 277895 chr1 62713235 62713235 G C rs770551628 KANK4 Nonsynonymous SNV S303W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 277896 chr14 23390077 23390077 G A rs74394650 PRMT5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 277897 chr12 18435331 18435331 G A rs780897913 PIK3C2G Nonsynonymous SNV A106T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.512 277898 chr22 32112859 32112859 T C rs940160463 PRR14L Synonymous SNV Q322Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 277899 chr12 26592247 26592247 G T ITPR2 Synonymous SNV V2152V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.647 277900 chr12 30818711 30818711 T C rs150299018 IPO8 Synonymous SNV K225K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.502 277901 chr14 31381338 31381338 T C rs772031799 STRN3 Synonymous SNV T391T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.507 277902 chr22 38201955 38201963 CCAAGAAAC - H1-0 K137_K139del 0.001 0 0 0 1 0 0 0 0 0 0 0 277903 chr12 39155967 39155967 T C rs367745539 CPNE8 Synonymous SNV V209V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.585 277904 chr22 42418258 42418258 C G WBP2NL Nonsynonymous SNV R138G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 277905 chr22 42463295 42463295 C G rs776131411 NAGA 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 277906 chr12 46601336 46601336 C A SLC38A1 Nonsynonymous SNV A153S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 277907 chr12 50025219 50025219 G A rs151033120 PRPF40B Synonymous SNV P18P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 277908 chr12 50366990 50366990 G A rs149806227 AQP6 Nonsynonymous SNV A12T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.91 277909 chr12 50500071 50500071 G A rs35428353 GPD1 Nonsynonymous SNV G98R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.9 277910 chr12 51319024 51319024 C T rs142438796 METTL7A Nonsynonymous SNV P68L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 277911 chr12 52180340 52180340 C T rs764790057 SCN8A Synonymous SNV A1278A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.2 277912 chr12 52214977 52214977 C G rs756316690 FIGNL2 Nonsynonymous SNV E407D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 277913 chr12 52940184 52940184 G T KRT71 Nonsynonymous SNV A404D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 277914 chr12 52579238 52579238 T C KRT80 Nonsynonymous SNV K145R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.584 277915 chr20 29965221 29965221 C T rs186901050 DEFB119 Nonsynonymous SNV C28Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 277916 chr12 53431397 53431397 C T rs759937924 EIF4B Nonsynonymous SNV S465F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 277917 chr12 53453163 53453163 G C rs763260776 TNS2 Nonsynonymous SNV V590L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 277918 chr14 75514859 75514859 C T rs554385170 MLH3 Synonymous SNV P500P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.977 277919 chr6 10749890 10749890 C T rs200230747 TMEM14B Nonsynonymous SNV A20V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 277920 chr12 53876801 53876801 G A rs560592149 MAP3K12 Nonsynonymous SNV R596C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 277921 chr12 54394321 54394321 G A HOXC9 Nonsynonymous SNV A117T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 277922 chr22 32498164 32498164 C A SLC5A1 Synonymous SNV A408A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.35 277923 chr12 55863163 55863163 T C rs750524022 OR6C70 Nonsynonymous SNV M254V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.956 277924 chr22 37964716 37964716 C T rs183038900 CDC42EP1 Synonymous SNV D355D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.575 277925 chr12 56478777 56478777 A C ERBB3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 277926 chr20 47253168 47253168 C T rs145091620 PREX1 Nonsynonymous SNV A1334T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 277927 chr12 66839161 66839161 T C GRIP1 Synonymous SNV T442T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.316 277928 chr20 32224464 32224464 A G rs576242205 CBFA2T2 Nonsynonymous SNV N416S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.104 277929 chr15 101093955 101093955 A G rs62037118 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.349 277930 chr20 47989991 47989991 C T rs149678923 KCNB1 Synonymous SNV A702A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.865 277931 chr20 33028027 33028027 - ACAAAT rs752161809 ITCH T146_S147insNT 0 0 0 2 0 0 0.005 0 0 0 0 0 277932 chr15 25219514 25219514 C T SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 5.231 277933 chr15 25429460 25429460 T C rs72546343 SNORD115-8 0 0 0.007 0 0 0 0 2 0 0 0 0 5.561 277934 chr12 85423676 85423676 T C rs201222177 TSPAN19 Nonsynonymous SNV I17V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.812 277935 chr2 157186315 157186315 C T NR4A2 Synonymous SNV P128P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 277936 chr12 89917892 89917892 G C rs557300871 GALNT4, POC1B-GALNT4 Nonsynonymous SNV N145K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 277937 chr6 42796346 42796346 C T BICRAL Nonsynonymous SNV S92F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 277938 chr22 50664518 50664518 G A rs753309860 TUBGCP6 Synonymous SNV C598C 0 0 0 1 0 0 0.003 0 0 0 0 0 7.27 277939 chr12 96371767 96371767 A G rs150591434 HAL Nonsynonymous SNV W329R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 277940 chr15 40824739 40824739 T C MRPL42P5 0 0 0.003 0 0 0 0 1 0 0 0 0 0.331 277941 chr12 104187741 104187741 A G rs146633362 NT5DC3 Nonsynonymous SNV M263T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 277942 chr15 42034840 42034840 C T rs769653790 MGA Nonsynonymous SNV T1561I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.7 277943 chr20 55748285 55748285 C T rs780359443 BMP7 Nonsynonymous SNV A373T 0 0 0 2 0 0 0.005 0 0 0 0 0 35 277944 chr20 55913354 55913354 A T SPO11 Nonsynonymous SNV N218I 0 0 0 2 0 0 0.005 0 0 0 0 0 27.1 277945 chr15 42978435 42978435 A C rs759558730 STARD9 Nonsynonymous SNV R1553S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.636 277946 chr2 103353264 103353264 C T rs772241834 MFSD9 Synonymous SNV E2E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.394 277947 chr15 42983763 42983763 C T STARD9 Synonymous SNV V3329V 0 0 0.003 0 0 0 0 1 0 0 0 0 16 277948 chr6 56425097 56425097 T C rs757970358 DST Nonsynonymous SNV E2189G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 277949 chr12 120190054 120190054 - GAGA CIT 0.001 0 0.003 0 1 0 0 1 0 0 0 0 277950 chr12 120637268 120637268 C T rs759215849 RPLP0 Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 277951 chr12 112843710 112843710 T G rs148929822 RPL6 Nonsynonymous SNV K221Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 277952 chr15 45050820 45050820 A - TRIM69 N36Tfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 277953 chr15 45402092 45402092 C T rs778729877 DUOX2 Nonsynonymous SNV R376Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 277954 chr6 70428916 70428916 A T rs370829456 LMBRD1 Nonsynonymous SNV Y159N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.8 277955 chr12 113386913 113386913 C T rs755215305 OAS3 Nonsynonymous SNV P426L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 277956 chr2 168067342 168067342 G A XIRP2 Synonymous SNV K220K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 277957 chr12 124356025 124356025 G A rs201908206 DNAH10 Nonsynonymous SNV R2436Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 277958 chr15 56388288 56388288 A G RFX7 Synonymous SNV D449D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.431 277959 chr15 57210674 57210674 C T rs189458842 LOC145783 0 0 0.007 0 0 0 0 2 0 0 0 0 11.09 277960 chr12 123414490 123414490 C T rs375922544 ABCB9 Nonsynonymous SNV E694K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 277961 chr6 90428706 90428706 G C rs760523007 MDN1 Nonsynonymous SNV P2034R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 277962 chr15 63000847 63000847 G A rs148264437 TLN2 Synonymous SNV A773A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 277963 chr2 17877609 17877609 C G SMC6 Nonsynonymous SNV D827H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.76 277964 chr6 99828175 99828175 G A rs751957396 COQ3 Synonymous SNV V92V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.494 277965 chr2 136480112 136480112 C T rs115519111 R3HDM1 Nonsynonymous SNV A850V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 277966 chr12 125465270 125465281 CTCCTCCTCCTC - rs776248407 DHX37 E165_E168del 0.001 0 0 0 1 0 0 0 0 0 0 0 277967 chr21 43321823 43321823 C T C2CD2 Nonsynonymous SNV E335K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 277968 chr15 68619011 68619011 C T ITGA11 Nonsynonymous SNV R731Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 277969 chr15 69689579 69689579 G A rs761156760 LOC145694 0 0 0.003 0 0 0 0 1 0 0 0 0 2.325 277970 chr12 132512818 132512818 A G EP400 Nonsynonymous SNV Q1789R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.59 277971 chr2 15493701 15493701 T C rs933319946 NBAS Synonymous SNV A1355A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.628 277972 chr21 34166201 34166201 C T rs756541645 C21orf62 Nonsynonymous SNV D178N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 277973 chr21 34799287 34799287 C T rs142997921 IFNGR2 Nonsynonymous SNV T170M 0 0 0 1 0 0 0.003 0 0 0 0 0 2.464 277974 chr15 75656928 75656928 A G MAN2C1 Synonymous SNV P167P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.304 277975 chr21 37618805 37618805 C T rs117952108 DOP1B Synonymous SNV P1509P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.64 277976 chr13 20233188 20233188 A C rs774528734 MPHOSPH8 Nonsynonymous SNV K544Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 277977 chr13 28608474 28608474 G A rs777127892 FLT3 Synonymous SNV V556V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 277978 chr13 23915227 23915227 T C rs886050088 SACS Nonsynonymous SNV I783V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.003 277979 chr2 186659466 186659466 A G rs1015564718 FSIP2 Nonsynonymous SNV I2535V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.03 277980 chr13 36744920 36744920 T C rs76803829 CCDC169-SOHLH2, SOHLH2 Synonymous SNV P335P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.23 277981 chr6 135644406 135644406 G A rs61755967 AHI1 Synonymous SNV R1074R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 277982 chr6 139106400 139106400 G A rs143442772 CCDC28A Nonsynonymous SNV R210Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 277983 chr2 175677103 175677103 C T rs373546784 CHN1 Nonsynonymous SNV V149M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 277984 chr2 176982257 176982257 G A HOXD10 Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.414 277985 chr2 17830686 17830686 T G VSNL1 Nonsynonymous SNV Y58D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 277986 chr2 179213956 179213956 T C rs777704703 OSBPL6 Synonymous SNV P300P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.64 277987 chr2 220195520 220195520 C A RESP18 Nonsynonymous SNV V104F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 277988 chr15 90349220 90349220 T G rs763429233 ANPEP Nonsynonymous SNV M199L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.524 277989 chr6 151674299 151674299 A T AKAP12 Synonymous SNV G1486G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 277990 chr13 50505270 50505270 C T rs373728075 SPRYD7 Nonsynonymous SNV G36E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 277991 chr13 98116537 98116537 C T rs764550266 RAP2A Synonymous SNV G131G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 277992 chr15 94943180 94943180 C T rs142688460 MCTP2 Nonsynonymous SNV R229W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 277993 chr13 53603108 53603108 T A rs376038823 OLFM4 Nonsynonymous SNV F46Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 277994 chr22 19213091 19213091 C T rs367815723 CLTCL1 Synonymous SNV L671L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.01 277995 chr22 19344450 19344450 C T rs782075352 HIRA Nonsynonymous SNV V787I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 277996 chr13 103514998 103514998 G A rs142081128 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R500Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.475 277997 chr16 1269113 1269113 C T rs753241781 CACNA1H Nonsynonymous SNV R2005W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 277998 chr2 21360693 21360693 G A rs955169656 TDRD15 Synonymous SNV P118P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.168 277999 chr2 202123028 202123028 C G rs34210251 CASP8 Nonsynonymous SNV P25R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.25 278000 chr1 29448216 29448216 A G TMEM200B Nonsynonymous SNV V42A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 278001 chr2 216960838 216960838 C T TMEM169 Nonsynonymous SNV S51F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 278002 chr13 103396245 103396245 A C rs766453993 CCDC168 Nonsynonymous SNV F2268V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.31 278003 chr2 220079112 220079112 G A rs200074767 ABCB6 Nonsynonymous SNV T416M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 278004 chr2 210867429 210867429 A G rs62001902 RPE Nonsynonymous SNV D15G 0.003 0 0 1 3 0 0.003 0 0 0 0 0 26.5 278005 chr2 211179650 211179650 G A rs376404409 MYL1 Synonymous SNV D39D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.451 278006 chr13 114061932 114061932 G T rs113429647 LOC101928841 Nonsynonymous SNV F191L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.69 278007 chr22 30857549 30857549 C T rs137949327 SEC14L3 Nonsynonymous SNV V302I 0.002 0 0.003 2 2 0 0.005 1 0 0 0 0 22.8 278008 chr16 24809239 24809239 G A TNRC6A Nonsynonymous SNV D1216N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 278009 chr16 25255170 25255170 G A rs142382871 ZKSCAN2 Synonymous SNV S639S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 278010 chr7 6693018 6693018 C T ZNF316 Synonymous SNV G597G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.24 278011 chr14 21511281 21511281 A G rs149636039 RNASE7 Nonsynonymous SNV M44V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 278012 chr14 21511391 21511391 C T rs144405763 RNASE7 Synonymous SNV A80A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 278013 chr14 23566997 23566997 C T C14orf119 Nonsynonymous SNV H44Y 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 278014 chr2 220172549 220172549 C A rs761425274 PTPRN Nonsynonymous SNV R44L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 278015 chr16 2983426 2983426 G C FLYWCH1 Synonymous SNV T364T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.02 278016 chr16 2988407 2988407 C G rs546832552 FLYWCH1 Nonsynonymous SNV A667G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 278017 chr16 30116107 30116109 CTC - LOC101928595 0 0 0.003 0 0 0 0 1 0 0 0 0 278018 chr14 24108095 24108095 G A DHRS2 Nonsynonymous SNV G8S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.477 278019 chr14 23072880 23072880 C T rs751036299 ABHD4 Nonsynonymous SNV T179I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 278020 chr2 234465632 234465632 G A rs761956910 USP40 Stop gain R139X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 278021 chr16 31896522 31896522 A G ZNF267 Synonymous SNV E57E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 278022 chr14 35055440 35055440 A G rs762571935 SNX6 Nonsynonymous SNV C227R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 278023 chr14 23852450 23852450 C T rs199755234 MYH6 Nonsynonymous SNV R1882H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 278024 chr14 23886855 23886855 C T rs371552806 MYH7 Nonsynonymous SNV V1404M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 278025 chr14 38275629 38275629 C T rs116729885 TTC6 Stop gain R1426X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 278026 chr14 24538613 24538613 A G rs771531364 CARMIL3 X1373W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 278027 chr16 3706166 3706166 G A rs144007099 DNASE1 Synonymous SNV E100E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.085 278028 chr2 239059485 239059485 G C KLHL30 Nonsynonymous SNV G506R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 278029 chr16 4391403 4391403 T C CORO7-PAM16, PAM16 Nonsynonymous SNV N64S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 278030 chr14 50952851 50952851 G A rs182699609 MAP4K5 Synonymous SNV N76N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.332 278031 chr14 31585622 31585622 G A rs547778199 HECTD1 Nonsynonymous SNV P1813L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 278032 chr14 55462483 55462483 C T rs143976463 WDHD1 Nonsynonymous SNV D208N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 278033 chr7 44579926 44579926 A G rs761415606 NPC1L1 Nonsynonymous SNV Y24H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.136 278034 chr2 242814224 242814224 G A rs764985888 RTP5 Nonsynonymous SNV A173T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.233 278035 chr14 59112030 59112030 G A rs747961093 DACT1 Nonsynonymous SNV G230E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 278036 chr16 56871591 56871591 A G rs145129346 NUP93 Synonymous SNV Q534Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.384 278037 chr14 47120535 47120535 G - RPL10L M136Cfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 278038 chr2 236617868 236617868 C T rs139445824 AGAP1 Nonsynonymous SNV P70L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 278039 chr14 51467455 51467455 C T rs375333472 TRIM9 Synonymous SNV V470V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 278040 chr16 67964178 67964178 C G CTRL Synonymous SNV L181L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 278041 chr16 67974119 67974119 A G LCAT Synonymous SNV C337C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.115 278042 chr16 68336369 68336369 G A SLC7A6OS Synonymous SNV D238D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 278043 chr14 68117457 68117457 T G rs147982459 ARG2 Synonymous SNV V295V 0.003 0 0 0 4 0 0 0 0 0 0 0 7.614 278044 chr16 70698984 70698984 C G rs765890015 MTSS2 Nonsynonymous SNV G382R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 278045 chr2 237032585 237032585 G A rs138364081 AGAP1 Nonsynonymous SNV R745Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 278046 chr16 72184525 72184525 G A rs1047412342 PMFBP1 Synonymous SNV L206L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.376 278047 chr14 61518759 61518759 G A rs746190237 SLC38A6 Nonsynonymous SNV G399D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 278048 chr2 24306003 24306003 G A rs199779930 TP53I3 Nonsynonymous SNV P53L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 278049 chr2 25022701 25022701 C T rs758459079 CENPO Synonymous SNV H62H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.681 278050 chr16 773876 773876 C G CCDC78 Nonsynonymous SNV G372R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.137 278051 chr7 77325919 77325919 G A rs79095281 RSBN1L Nonsynonymous SNV V45I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.96 278052 chr16 842265 842265 C T rs565099873 CHTF18 Nonsynonymous SNV A415V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 278053 chr2 29366763 29366763 G A rs144223606 CLIP4 Synonymous SNV T279T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 278054 chr16 84492880 84492880 A C rs62640937 ATP2C2 Nonsynonymous SNV I590L 0 0 0.007 0 0 0 0 2 0 0 0 0 27.1 278055 chr2 55253505 55253505 A G rs773883459 RTN4 Nonsynonymous SNV M371T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 278056 chr16 84900577 84900577 C G rs150433030 CRISPLD2 Nonsynonymous SNV H262D 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 0.77 278057 chr2 32865435 32865435 C G rs150963117 TTC27 Synonymous SNV R115R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.679 278058 chr16 85111134 85111134 C T rs200185234 KIAA0513 Synonymous SNV I226I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 278059 chr2 61415477 61415477 C T rs748104342 USP34 Synonymous SNV E3467E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.138 278060 chr2 25467119 25467119 A T DNMT3A Nonsynonymous SNV C434S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 278061 chr14 90769210 90769210 A C NRDE2 Nonsynonymous SNV L422R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 278062 chr2 119604727 119604727 G A EN1 Nonsynonymous SNV P6L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 278063 chr16 88782483 88782483 C T rs528448732 PIEZO1 Nonsynonymous SNV E2392K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 278064 chr14 79434678 79434678 G A rs137943866 NRXN3 Nonsynonymous SNV R671H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 32 278065 chr2 97216465 97216465 G A rs761835947 ARID5A Nonsynonymous SNV D25N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.8 278066 chr2 97351096 97351096 C T rs921881496 FER1L5 Nonsynonymous SNV R609W 0.002 0 0 0 2 0 0 0 0 0 0 0 8.22 278067 chr2 47273565 47273565 G C rs367967346 TTC7A Nonsynonymous SNV Q284H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 278068 chr2 99797337 99797337 C A rs771593501 MITD1 Synonymous SNV V36V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.47 278069 chr14 101005605 101005605 G A rs141197323 BEGAIN Synonymous SNV H161H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.034 278070 chr2 17696905 17696905 A G rs368152388 RAD51AP2 Synonymous SNV Y926Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 278071 chr14 102431043 102431043 G T DYNC1H1 Synonymous SNV G5G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 278072 chr2 62066560 62066560 C T rs372121322 FAM161A Nonsynonymous SNV V527I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.639 278073 chr2 179590308 179590308 C T rs756292622 TTN Nonsynonymous SNV A5631T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.7 278074 chr14 94156580 94156580 T C UNC79 Synonymous SNV P2263P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.786 278075 chr20 17639910 17639910 C T rs111331496 RRBP1 Nonsynonymous SNV A415T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 4.703 278076 chr14 104205096 104205096 G A rs370571341 PPP1R13B Synonymous SNV A928A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 278077 chr2 9572658 9572658 C T rs762458018 CPSF3 Synonymous SNV D83D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.97 278078 chr14 96944901 96944901 G A rs146694881 AK7 Nonsynonymous SNV R486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 278079 chr17 18007159 18007159 G A DRG2 Stop gain W284X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 278080 chr17 18061058 18061058 C T rs200583193 MYO15A Synonymous SNV H2937H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.74 278081 chr14 103574064 103574064 G A EXOC3L4 Nonsynonymous SNV G600S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 278082 chr3 10387721 10387721 G A rs770755497 ATP2B2 Synonymous SNV F790F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 278083 chr15 31295017 31295017 G C TRPM1 Nonsynonymous SNV R1313G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 278084 chr2 84832698 84832698 C T rs764636852 DNAH6 Synonymous SNV G1052G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.06 278085 chr14 105684093 105684093 G A rs141859464 BRF1 Synonymous SNV T282T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.979 278086 chr3 11301962 11301962 C T rs147915085 HRH1 Synonymous SNV A413A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.95 278087 chr17 2276271 2276271 C T rs138905892 SGSM2 Nonsynonymous SNV R560W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 278088 chr2 207171188 207171188 A G rs374997578 ZDBF2 Nonsynonymous SNV I646V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 278089 chr15 33194233 33194233 T A rs199507823 FMN1 Nonsynonymous SNV H906L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 278090 chr7 129944399 129944399 C T rs367921847 CPA4 Nonsynonymous SNV R123W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 278091 chr15 35149211 35149211 G C rs760602707 AQR Nonsynonymous SNV Q1414E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 278092 chr7 132973750 132973750 A G rs201851212 EXOC4 Synonymous SNV E117E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.34 278093 chr7 138329499 138329499 G A rs780273701 SVOPL Nonsynonymous SNV S99L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 278094 chr15 45444078 45444078 G A rs550161003 DUOX1 Synonymous SNV T1007T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 278095 chr15 40915924 40915924 C T rs756200592 KNL1 Synonymous SNV T1154T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 278096 chr17 34325940 34325940 A G rs141810667 CCL15 Nonsynonymous SNV M33T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 278097 chr7 140255494 140255494 C T DENND2A Nonsynonymous SNV R660H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 278098 chr17 35946626 35946626 G A rs200275094 SYNRG Nonsynonymous SNV A91V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.2 278099 chr17 36876976 36876976 C G rs62638660 MLLT6 Nonsynonymous SNV D806E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 278100 chr17 37243901 37243901 T C rs200519422 PLXDC1 Nonsynonymous SNV K289R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.57 278101 chr3 129695975 129695975 C T rs150942161 TRH Synonymous SNV D215D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.998 278102 chr3 130283957 130283957 A G rs754669112 COL6A6 Nonsynonymous SNV I261V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.952 278103 chr15 57524511 57524511 C T TCF12 Synonymous SNV D66D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 278104 chr15 62207883 62207883 C T rs373994025 VPS13C Synonymous SNV R2755R 0.001 0 0 0 1 0 0 0 0 0 0 0 17 278105 chr3 121260275 121260275 C T rs751386063 POLQ Nonsynonymous SNV R132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278106 chr17 39383164 39383164 C T rs371935601 KRTAP9-2 Synonymous SNV C86C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 278107 chr17 39388932 39388932 C A rs139245968 KRTAP9-3 Nonsynonymous SNV T60N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 278108 chr7 151680202 151680202 A G rs202056038 GALNTL5 Nonsynonymous SNV E167G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 278109 chr15 56726346 56726346 A G MNS1 Nonsynonymous SNV L420P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 278110 chr17 39671895 39671895 G A rs765872850 KRT15 Nonsynonymous SNV T359M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 278111 chr15 68119386 68119386 C T rs767076818 SKOR1 Nonsynonymous SNV P407L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 278112 chr7 156802937 156802937 G A rs773563435 MNX1 Synonymous SNV A36A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.48 278113 chr3 123633740 123633740 C T rs776090410 CCDC14 Synonymous SNV S716S 0.002 0 0 0 2 0 0 0 0 0 0 0 16 278114 chr8 1497029 1497029 C G DLGAP2 Nonsynonymous SNV P137R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 278115 chr17 40317486 40317486 C T rs191329438 KCNH4 Nonsynonymous SNV R689H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 278116 chr2 218940034 218940034 T G rs368944356 RUFY4 Synonymous SNV L273L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.053 278117 chr15 64701907 64701918 AGCGAGAGGAGG - TRIP4 R79_E82del 0.001 0 0 0 1 0 0 0 0 0 0 0 278118 chr15 75042328 75042328 G A rs17861153 CYP1A2 Synonymous SNV T83T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 278119 chr15 65688332 65688332 G A IGDCC4 Synonymous SNV S389S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.91 278120 chr15 75130814 75130814 A G rs367758854 ULK3 Synonymous SNV A378A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 278121 chr17 41930333 41930333 C T rs146042431 CD300LG Nonsynonymous SNV R145C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 278122 chr17 4688737 4688737 G T rs745778823 VMO1 Nonsynonymous SNV Q177K 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 24.1 278123 chr3 151535366 151535366 G A rs768596519 AADAC Synonymous SNV V117V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 278124 chr17 48248836 48248836 G A rs771425133 HILS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.97 278125 chr3 157098978 157098978 C T rs16827563 VEPH1 Nonsynonymous SNV R365Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 278126 chr3 157177998 157177998 C G rs6794570 VEPH1 Synonymous SNV T167T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 278127 chr15 81595991 81595991 G A rs202027860 IL16 Synonymous SNV T439T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 278128 chr3 160156458 160156458 A C rs567703469 TRIM59 Nonsynonymous SNV S172A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.213 278129 chr3 184571959 184571959 C T rs535949463 VPS8 Nonsynonymous SNV R332W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 278130 chr8 25101205 25101205 A T rs137877997 DOCK5 Nonsynonymous SNV N20I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 278131 chr15 90195915 90195915 A C rs770614646 KIF7 Nonsynonymous SNV F83V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 278132 chr17 59483007 59483007 G A rs780625185 TBX2 Nonsynonymous SNV G499D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 278133 chr17 61557737 61557737 A C ACE Nonsynonymous SNV N232T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 278134 chr3 184294819 184294819 G A rs140106380 EPHB3 Nonsynonymous SNV R401Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 278135 chr8 37635559 37635559 A G rs757824349 PLPBP Synonymous SNV K265K 0 0 0 1 0 0 0.003 0 0 0 0 0 4.168 278136 chr8 41790637 41790637 G A KAT6A Nonsynonymous SNV P1701S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.138 278137 chr15 99696437 99696437 G A rs773024985 TTC23 Synonymous SNV P353P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 278138 chr17 71397309 71397309 G A rs143280778 SDK2 Nonsynonymous SNV R941C 0 0 0.007 0 0 0 0 2 0 0 0 0 29.9 278139 chr3 185226631 185226631 C T rs376062316 LIPH Nonsynonymous SNV E435K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278140 chr16 630927 630927 C A PIGQ Nonsynonymous SNV L496M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 278141 chr3 27332761 27332761 C T rs747323461 NEK10 Nonsynonymous SNV V533I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 278142 chr2 26496565 26496565 A G HADHB Nonsynonymous SNV I86V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.15 278143 chr2 26725223 26725223 C T rs956438436 OTOF Nonsynonymous SNV D219N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27 278144 chr8 86240805 86240805 A G rs766788186 CA1 Nonsynonymous SNV V144A 0 0 0 1 0 0 0.003 0 0 0 0 0 28 278145 chr2 70683604 70683604 C T rs148679837 TGFA Nonsynonymous SNV V77I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 278146 chr2 71894540 71894540 A G DYSF Synonymous SNV P1731P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 278147 chr17 73836856 73836856 G A rs145607492 UNC13D Nonsynonymous SNV H224Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.5 278148 chr3 25792615 25792615 A G rs777110722 NGLY1 Nonsynonymous SNV L211S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 278149 chr16 2288012 2288013 AG - rs753645173 DNASE1L2 Q279Hfs*110 0.001 0 0 0 1 0 0 0 0 0 0 0 278150 chr16 2547059 2547059 C A TBC1D24 Nonsynonymous SNV Q304K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 278151 chr16 3188439 3188439 G A rs374611671 ZNF213 Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.932 278152 chr2 42836686 42836686 G A rs145421650 MTA3 Synonymous SNV L37L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.393 278153 chr2 86297246 86297246 G A rs374930476 POLR1A Synonymous SNV A587A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 278154 chr16 3714350 3714350 G A rs757019552 TRAP1 Synonymous SNV Y445Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.331 278155 chr16 4431976 4431976 G A rs759071837 VASN Synonymous SNV R366R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 278156 chr16 4625351 4625351 G C C16orf96 Synonymous SNV P290P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.968 278157 chr2 9628403 9628403 G A rs776105545 IAH1 Nonsynonymous SNV R118Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 278158 chr3 47039998 47039998 A T rs756557040 NBEAL2 Nonsynonymous SNV K1021M 0 0.003 0 0 0 1 0 0 0 0 0 0 23 278159 chr3 42740603 42740603 G C HHATL Nonsynonymous SNV T70S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.305 278160 chr3 42906865 42906865 G A ACKR2 Nonsynonymous SNV D291N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 278161 chr3 48642174 48642174 C G rs751333563 UQCRC1 Nonsynonymous SNV V113L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 278162 chr3 48719060 48719060 G C NCKIPSD Nonsynonymous SNV T251S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.807 278163 chr16 13329216 13329216 C T SHISA9 Nonsynonymous SNV P409S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 278164 chr17 79634863 79634863 C T rs747134240 CCDC137 Nonsynonymous SNV P80L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 278165 chr16 19085247 19085247 T C rs771478713 COQ7 Nonsynonymous SNV M48T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 278166 chr3 69032012 69032012 T C rs941614481 EOGT Synonymous SNV A304A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 278167 chr3 69037470 69037470 T C rs947068219 EOGT Synonymous SNV L353L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.39 278168 chr16 22122316 22122316 G A rs780570532 VWA3A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 278169 chr16 20856541 20856541 C G rs142000603 REXO5 Nonsynonymous SNV P670R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 278170 chr16 22269840 22269840 G C EEF2K Nonsynonymous SNV G352A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 278171 chr16 20926886 20926886 G A rs377354416 LYRM1 Synonymous SNV T3T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.17 278172 chr3 53781379 53781379 G A rs758204752 CACNA1D Nonsynonymous SNV R1073H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 278173 chr3 48696677 48696677 C T CELSR3 Nonsynonymous SNV D1131N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 278174 chr3 48697577 48697577 G C CELSR3 Nonsynonymous SNV L831V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.077 278175 chr17 9153925 9153925 G A rs16958105 STX8 Synonymous SNV I227I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.11 278176 chr3 50326952 50326952 G C rs367665524 IFRD2 Synonymous SNV L299L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.848 278177 chr3 64084904 64084904 G A rs765451868 PRICKLE2 Synonymous SNV N786N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.72 278178 chr16 28914468 28914468 G A rs751717647 ATP2A1 Synonymous SNV P829P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.59 278179 chr18 19088358 19088358 C T GREB1L Nonsynonymous SNV A1514V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 278180 chr4 104061537 104061537 C T rs115310306 CENPE Nonsynonymous SNV R1905H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.108 278181 chr4 105412464 105412464 - GCCGCC rs532524986 CXXC4 G165_S166insGG 0.002 0 0 0 2 0 0 0 0 0 0 0 278182 chr3 9731691 9731691 C T rs748208637 MTMR14 Nonsynonymous SNV R493W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 278183 chr16 31098167 31098167 G A rs780266645 PRSS53 Nonsynonymous SNV R99C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 278184 chr16 31284744 31284744 G C ITGAM Nonsynonymous SNV V255L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 278185 chr2 9531271 9531271 T A rs762599531 ASAP2 Nonsynonymous SNV S822T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 278186 chr3 98110312 98110312 A T OR5K3 Nonsynonymous SNV K268I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 278187 chr3 57311863 57311863 C T rs771994361 ASB14 Nonsynonymous SNV R221Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 278188 chr16 50335123 50335123 C T rs538515875 ADCY7 Nonsynonymous SNV R456W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278189 chr8 146067502 146067502 G A rs141409063 ZNF7 Nonsynonymous SNV R241H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.154 278190 chr16 56913479 56913479 C T rs368783800 SLC12A3 Nonsynonymous SNV A454V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 278191 chr18 34298406 34298406 G A rs141541132 FHOD3 Nonsynonymous SNV V857I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 278192 chr18 34852994 34852994 T C CELF4 Nonsynonymous SNV M311V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 278193 chr3 108356352 108356352 G C rs760697678 DZIP3 Nonsynonymous SNV V341L 0 0 0 2 0 0 0.005 0 0 0 0 0 16.4 278194 chr16 67173923 67173923 G A rs373406319 C16orf70 Nonsynonymous SNV R205Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 278195 chr18 44774470 44774470 A G rs752069963 SKOR2 Nonsynonymous SNV V362A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 278196 chr3 111366402 111366402 A G CD96 Nonsynonymous SNV N497S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 278197 chr16 70399018 70399018 C T rs778877553 DDX19A Synonymous SNV A165A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.52 278198 chr16 70507091 70507091 G T FCSK Nonsynonymous SNV D538Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27 278199 chr16 67424513 67424513 T C TPPP3 Nonsynonymous SNV N71D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.59 278200 chr18 52602119 52602119 C T rs746453395 CCDC68 Nonsynonymous SNV A178T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 278201 chr4 113970940 113970940 G A rs369260005 ANK2 Nonsynonymous SNV S19N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.14 278202 chr2 113675258 113675258 G A rs750419461 IL37 Synonymous SNV E43E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.275 278203 chr4 104065613 104065613 G A rs750529243 CENPE Synonymous SNV L1649L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 278204 chr16 72158762 72158762 A C PMFBP1 Nonsynonymous SNV N831K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.665 278205 chr18 63527017 63527017 C T rs777485445 CDH7 Nonsynonymous SNV T523M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 278206 chr4 144361387 144361387 A T GAB1 Synonymous SNV T479T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.005 278207 chr16 81390550 81390550 A G GAN Nonsynonymous SNV N265S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.044 278208 chr4 146479008 146479008 G T rs779281922 SMAD1 Synonymous SNV L440L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.575 278209 chr4 146479009 146479009 C T rs746045655 SMAD1 Nonsynonymous SNV H441Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.1 278210 chr16 81819671 81819671 C T rs189301790 PLCG2 Nonsynonymous SNV T26M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 278211 chr16 84212864 84212864 G A rs374658223 TAF1C Nonsynonymous SNV H433Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 278212 chr3 12858847 12858847 C T rs201715663 CAND2 Nonsynonymous SNV R713W 0 0 0 2 0 0 0.005 0 0 0 0 0 32 278213 chr4 126371616 126371616 G A rs200702071 FAT4 Nonsynonymous SNV A3151T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.9 278214 chr16 84495397 84495397 C T rs143164105 ATP2C2 Synonymous SNV N702N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 278215 chr3 179076677 179076677 G C MFN1 Nonsynonymous SNV V100L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 278216 chr19 1054089 1054089 C T rs950439606 ABCA7 Nonsynonymous SNV A1186V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.304 278217 chr16 88807897 88807897 G T PIEZO1 Nonsynonymous SNV P152T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 278218 chr4 144614355 144614355 G T rs773449595 FREM3 Nonsynonymous SNV A1729D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.55 278219 chr16 88691074 88691074 C T rs376127002 ZC3H18 Nonsynonymous SNV P655S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 278220 chr4 153802186 153802186 G C ARFIP1 Nonsynonymous SNV Q129H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 278221 chr16 89347685 89347685 G A ANKRD11 Synonymous SNV A1755A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.541 278222 chr16 89804642 89804642 C T rs200745032 ZNF276 Synonymous SNV P611P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 278223 chr16 89260171 89260171 C T rs761085530 CDH15 Synonymous SNV Y667Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.26 278224 chr19 14829236 14829236 A G rs376718643 ZNF333 Nonsynonymous SNV Y135C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 278225 chr3 148777528 148777528 G A HLTF Nonsynonymous SNV T450I 0 0 0 2 0 0 0.005 0 0 0 0 0 10.35 278226 chr16 90020657 90020657 T G DEF8 Nonsynonymous SNV D60E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 278227 chr17 1687739 1687739 C A rs147835560 SMYD4 Nonsynonymous SNV R634L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 278228 chr19 15852308 15852308 T C OR10H3 Nonsynonymous SNV F36L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 278229 chr9 125281779 125281779 C T rs114933427 OR1J4 Synonymous SNV Y120Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.65 278230 chr9 125289450 125289450 C T rs116815330 OR1N1 Synonymous SNV L41L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.35 278231 chr9 125315863 125315863 C T rs114238765 OR1N2 Nonsynonymous SNV R125C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 33 278232 chr9 125391047 125391047 G A rs115130172 OR1B1 Synonymous SNV F256F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 278233 chr19 17476458 17476458 G A rs144011339 PLVAP Synonymous SNV C272C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.154 278234 chr17 4402575 4402575 C A rs753884969 SPNS2 Nonsynonymous SNV P78H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 278235 chr4 20711350 20711350 C T rs749345200 PACRGL Nonsynonymous SNV P107L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 278236 chr19 1791982 1791982 C T rs533220772 ATP8B3 Synonymous SNV E689E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.25 278237 chr3 38163636 38163636 G A rs199840504 DLEC1 Nonsynonymous SNV A1702T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 278238 chr4 38799357 38799357 C A rs746174508 TLR1 Stop gain E366X 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 278239 chr17 4923279 4923279 C T rs757340909 KIF1C-AS1 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.792 278240 chr17 4883888 4883888 G A rs151218090 CAMTA2 Synonymous SNV S245S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.797 278241 chr19 1990058 1990058 G T rs146648828 BTBD2 Synonymous SNV G311G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 278242 chr4 54011501 54011501 C T rs756338716 SCFD2 Synonymous SNV T520T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.08 278243 chr17 7004915 7004915 A G ASGR2 Synonymous SNV N286N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.264 278244 chr4 57349351 57349351 C T rs758054768 SRP72 Nonsynonymous SNV A230V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 278245 chr17 7691499 7691499 C T rs551122128 DNAH2 Synonymous SNV P2279P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.7 278246 chr4 5894498 5894498 C A rs1036772171 CRMP1 Nonsynonymous SNV A67S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.91 278247 chr19 2980166 2980166 C G TLE6 Synonymous SNV L40L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.332 278248 chr19 31038947 31038947 C T rs142398595 ZNF536 Synonymous SNV N807N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 278249 chr4 6303651 6303651 C G rs200136995 WFS1 Nonsynonymous SNV T710S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.14 278250 chr4 40123586 40123586 T A rs114198420 N4BP2 Synonymous SNV S1285S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.054 278251 chr3 49163449 49163449 G A rs201289156 LAMB2 Synonymous SNV C765C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.209 278252 chr17 10309637 10309637 G A rs765353703 MYH8 Nonsynonymous SNV A750V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 278253 chr4 71509358 71509358 C T rs772979321 ENAM Nonsynonymous SNV P521S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.3 278254 chr19 36003678 36003678 G A rs145579735 DMKN Synonymous SNV G147G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.03 278255 chr4 73935142 73935142 G A rs200684651 COX18 Nonsynonymous SNV T112M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.832 278256 chr19 36043967 36043967 T G ATP4A Nonsynonymous SNV D908A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 278257 chr19 36211461 36211461 G A rs574300657 KMT2B Synonymous SNV P404P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 278258 chr19 36277739 36277739 G A rs779783445 ARHGAP33 Synonymous SNV S653S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 278259 chr17 15343599 15343599 C T rs371626202 TVP23C-CDRT4 Nonsynonymous SNV E155K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.35 278260 chr17 15554836 15554836 G T rs555310958 TRIM16 Nonsynonymous SNV P30T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 278261 chr3 39104620 39104620 A G rs778312615 WDR48 Nonsynonymous SNV N43S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.9 278262 chr3 52557513 52557513 G A STAB1 Nonsynonymous SNV G2404E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 278263 chr19 36980674 36980674 C A rs186567408 LOC728752 0 0 0.007 0 0 0 0 2 0 0 0 0 9.931 278264 chr3 39225934 39225934 G A rs747906215 XIRP1 Nonsynonymous SNV S351F 0 0 0 2 0 0 0.005 0 0 0 0 0 26 278265 chr4 77662881 77662881 C T rs369339614 SHROOM3 Synonymous SNV R1185R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.65 278266 chr17 18166552 18166552 G A rs139491020 MIEF2 Synonymous SNV S100S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.741 278267 chr3 40558036 40558036 C G rs773841524 ZNF620 Nonsynonymous SNV F203L 0 0 0 2 0 0 0.005 0 0 0 0 0 23 278268 chr17 19437387 19437387 G A SLC47A1 Synonymous SNV A45A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 278269 chr17 20013829 20013829 C T rs549370405 SPECC1 Synonymous SNV A79A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 278270 chr19 37854585 37854585 T C ZNF875 Nonsynonymous SNV S570P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 278271 chr19 38102840 38102840 G A rs142614639 ZNF540 Nonsynonymous SNV C188Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 278272 chr2 220085933 220085933 C A rs766664246 ATG9A Nonsynonymous SNV G746V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.232 278273 chr19 3821348 3821348 C T rs533738217 ZFR2 Nonsynonymous SNV A541T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.092 278274 chr4 8272034 8272034 C T HTRA3 Synonymous SNV L113L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.99 278275 chr4 84406225 84406225 T A rs369467990 ABRAXAS1 Star tloss M1? 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 22.9 278276 chr4 79393364 79393364 C T FRAS1 Synonymous SNV L2468L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 278277 chr19 4054337 4054337 C A rs776732413 ZBTB7A Synonymous SNV S298S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 278278 chr17 27075088 27075088 C G TRAF4 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.547 278279 chr19 4157105 4157105 C G rs143021454 CREB3L3 Synonymous SNV S89S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 278280 chr17 27493283 27493283 G A MYO18A Nonsynonymous SNV R226W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 278281 chr17 27944576 27944576 T C rs774467325 CORO6 Nonsynonymous SNV H232R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.914 278282 chr17 27959544 27959544 G A rs149601529 SSH2 Nonsynonymous SNV P863S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 278283 chr19 42713909 42713909 C T rs774361327 DEDD2 Nonsynonymous SNV A178T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.324 278284 chr17 33738668 33738668 T C rs141012636 SLFN12 Nonsynonymous SNV T476A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 278285 chr3 50684607 50684607 G A rs745848601 MAPKAPK3 Synonymous SNV E323E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.038 278286 chr17 35299593 35299593 A T rs750987185 LHX1 Nonsynonymous SNV M258L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 278287 chr3 52393310 52393310 G A rs768831672 DNAH1 Nonsynonymous SNV A1439T 0 0 0 2 0 0 0.005 0 0 0 0 0 22.8 278288 chr10 26465743 26465743 T C rs199843655 MYO3A Synonymous SNV N1469N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.843 278289 chr4 106640359 106640359 A G rs765114470 GSTCD Nonsynonymous SNV H190R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 278290 chr10 49634508 49634508 G A rs147168789 MAPK8 Synonymous SNV P243P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.05 278291 chr4 126238207 126238207 C T rs910813145 FAT4 Nonsynonymous SNV P214L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 278292 chr4 100063856 100063856 G T ADH4 Nonsynonymous SNV P32T 0 0 0 2 0 0 0.005 0 0 0 0 0 27 278293 chr4 100474995 100474995 C T TRMT10A Nonsynonymous SNV D198N 0 0 0 2 0 0 0.005 0 0 0 0 0 27.9 278294 chr4 100574854 100574854 C A C4orf54 Nonsynonymous SNV V318L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 278295 chr17 41584382 41584382 C T rs374580870 DHX8 Synonymous SNV D489D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 278296 chr19 49934662 49934662 C A rs770878008 SLC17A7 Synonymous SNV S398S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 278297 chr4 152571556 152571556 G A rs760974339 FAM160A1 Nonsynonymous SNV G788E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 278298 chr17 42155914 42155914 C T rs747074641 HDAC5 Nonsynonymous SNV G1096R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 278299 chr10 70333734 70333734 C G rs754378171 TET1 Nonsynonymous SNV Q547E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.748 278300 chr5 131705950 131705950 G A rs938693408 SLC22A5 Nonsynonymous SNV G96R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.8 278301 chr4 103645022 103645022 T C rs771587242 MANBA Synonymous SNV R125R 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 4.546 278302 chr4 106534599 106534599 C T rs61751053 ARHGEF38 Nonsynonymous SNV S148L 0 0 0 2 0 0 0.005 0 0 0 0 0 29.7 278303 chr17 46052698 46052698 A G CDK5RAP3 Nonsynonymous SNV I83V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 278304 chr19 51165820 51165820 G C rs199610046 SHANK1 Nonsynonymous SNV A1963G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.838 278305 chr4 128577820 128577820 G A rs58739356 INTU Nonsynonymous SNV D238N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 278306 chr17 57643119 57643119 C G rs16943678 DHX40 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 278307 chr4 177077252 177077252 C T WDR17 Nonsynonymous SNV A828V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 278308 chr4 140811069 140811069 - TGC MAML3 Q510_H511insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 278309 chr17 67124842 67124842 A G rs536409186 ABCA6 Nonsynonymous SNV V346A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 278310 chr17 61908478 61908478 C T rs765705310 PSMC5 Synonymous SNV I246I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 278311 chr19 54140040 54140040 G A rs138900772 DPRX Nonsynonymous SNV R125Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.225 278312 chr19 54672251 54672251 G A TMC4 Nonsynonymous SNV P206S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.42 278313 chr19 54675678 54675678 C T rs199540906 TMC4 Nonsynonymous SNV R91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 278314 chr17 67149484 67149484 C T rs78875590 ABCA10 Synonymous SNV P1366P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.16 278315 chr17 72439968 72439968 G T GPRC5C Nonsynonymous SNV V355L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 278316 chr17 67189667 67189667 T C rs80085564 ABCA10 Synonymous SNV L536L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.075 278317 chr17 67197701 67197701 T G rs111796360 ABCA10 Nonsynonymous SNV H372P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.844 278318 chr17 67217983 67217983 G C rs114438868 ABCA10 Nonsynonymous SNV L85V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 278319 chr17 71192733 71192733 A T rs145300015 COG1 Nonsynonymous SNV M135L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 278320 chr19 55677994 55677994 G T rs779603085 DNAAF3 Stop gain S8X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 278321 chr17 73746265 73746265 G A rs200774405 ITGB4 Synonymous SNV P1130P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 278322 chr17 72340928 72340928 G A rs201262345 KIF19 Nonsynonymous SNV R204Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 278323 chr17 72349433 72349433 C T rs376417731 KIF19 Nonsynonymous SNV T738M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 278324 chr4 184366774 184366774 A C CDKN2AIP Nonsynonymous SNV E120A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 278325 chr4 5620263 5620263 G A rs140951974 EVC2 Nonsynonymous SNV A803V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.8 278326 chr5 5303850 5303850 C G ADAMTS16 Nonsynonymous SNV L1053V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 278327 chr17 74765935 74765935 G A rs528515664 MFSD11 Nonsynonymous SNV G234S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278328 chr17 76688527 76688527 T C rs762842090 CYTH1 Nonsynonymous SNV N229S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 278329 chr17 78215620 78215620 G A rs140725186 SLC26A11 Nonsynonymous SNV G346S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.4 278330 chr19 59074401 59074401 C T rs149020787 MZF1 Nonsynonymous SNV G415S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.734 278331 chr17 79080612 79080612 C T rs148086211 BAIAP2 Nonsynonymous SNV P469S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 278332 chr5 38435318 38435318 C T rs115665295 EGFLAM Nonsynonymous SNV S515L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 278333 chr5 33937884 33937884 A G RXFP3 Nonsynonymous SNV T347A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.85 278334 chr4 4440202 4440202 T C STX18 Nonsynonymous SNV R97G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.35 278335 chr10 135168935 135168935 G A rs184108406 FUOM Nonsynonymous SNV T112M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.631 278336 chr5 37183330 37183330 T C rs373122844 CPLANE1 Synonymous SNV V1651V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.427 278337 chr4 85741332 85741332 T C WDFY3 Synonymous SNV S533S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.235 278338 chr18 10791220 10791220 T A rs376057592 PIEZO2 Nonsynonymous SNV S621C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.9 278339 chr4 89599174 89599174 G T HERC3 Synonymous SNV L577L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.53 278340 chr4 89599175 89599175 C T HERC3 Synonymous SNV L578L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 278341 chr11 959457 959457 A G rs200802126 AP2A2 Nonsynonymous SNV I30V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.034 278342 chr18 19146164 19146164 G A ESCO1 Nonsynonymous SNV S550L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 278343 chr4 70826696 70826696 G A rs754534286 CSN2 Synonymous SNV L6L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.464 278344 chr18 28725740 28725740 C G rs745352570 DSC1 Nonsynonymous SNV G258A 0.002 0 0 0 2 0 0 0 0 0 0 0 26.1 278345 chr4 71396910 71396910 G A rs117133443 AMTN Nonsynonymous SNV R170H 0 0 0 2 0 0 0.005 0 0 0 0 0 1.661 278346 chr5 653157 653157 G A rs200654172 CEP72 Synonymous SNV A611A 0.001 0 0 4 1 0 0.01 0 0 0 0 0 12.31 278347 chr4 73280560 73280560 T C rs373258350 ADAMTS3 Nonsynonymous SNV I211M 0 0 0 1 0 0 0.003 0 0 0 0 0 4.648 278348 chr4 76517020 76517020 T G CDKL2 Nonsynonymous SNV S544R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.365 278349 chr5 74892994 74892994 A G rs757546785 POLK Nonsynonymous SNV R760G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 278350 chr4 7941540 7941540 G A LOC389199 Synonymous SNV R216R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.971 278351 chr1 111663170 111663171 AA - DRAM2 L32Gfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 278352 chr18 47364117 47364117 G A rs772198023 MYO5B Synonymous SNV T1636T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 278353 chr4 83375895 83375895 C G ENOPH1 Nonsynonymous SNV P49R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 278354 chr1 11298549 11298549 T C MTOR Nonsynonymous SNV S638G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.35 278355 chr6 107390748 107390748 G A rs781991805 BEND3 Synonymous SNV P549P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.232 278356 chr18 59157903 59157903 A G rs34813888 CDH20 Synonymous SNV P39P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 278357 chr1 118441747 118441747 T C rs764404118 GDAP2 Nonsynonymous SNV N243S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 278358 chr1 120050198 120050198 G A rs767960348 HSD3B1 Synonymous SNV R33R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.399 278359 chr4 99399857 99399857 G A rs74505124 TSPAN5 Synonymous SNV S185S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 11.64 278360 chr18 71790700 71790700 G A rs369674506 FBXO15 Synonymous SNV P347P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.742 278361 chr1 151496749 151496749 A C CGN Nonsynonymous SNV H439P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.415 278362 chr19 629956 629956 G T rs371453888 POLRMT Nonsynonymous SNV R136S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 278363 chr6 132910052 132910052 C T rs1024894997 TAAR5 Synonymous SNV V258V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.53 278364 chr19 861894 861894 C T rs749986577 CFD Nonsynonymous SNV H192Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 278365 chr6 155618224 155618224 G T rs753853179 TFB1M Nonsynonymous SNV H137N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 278366 chr19 1108435 1108435 G A SBNO2 Synonymous SNV D1238D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.072 278367 chr1 155265458 155265458 C T PKLR Nonsynonymous SNV E125K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 278368 chr19 1255593 1255593 C T rs376800151 MIDN Synonymous SNV P343P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 278369 chr1 155912081 155912081 G A rs202002819 RXFP4 Nonsynonymous SNV R194H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 278370 chr19 1109351 1109351 G T rs756764477 SBNO2 Synonymous SNV P1039P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.678 278371 chr6 123319099 123319099 G A CLVS2 Synonymous SNV R59R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.581 278372 chr1 156518434 156518434 G A rs778899555 IQGAP3 Synonymous SNV P644P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.012 278373 chr11 6233059 6233059 G T rs377739879 FAM160A2 Synonymous SNV R866R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.917 278374 chr5 138760698 138760698 G A rs777717157 DNAJC18 Nonsynonymous SNV P222L 0 0 0 1 0 0 0.003 0 0 0 0 0 21 278375 chr19 1828460 1828460 G A rs373138200 REXO1 Nonsynonymous SNV R110W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 278376 chr5 139422585 139422585 C T NRG2 Nonsynonymous SNV D24N 0 0 0 2 0 0 0.005 0 0 0 0 0 22.4 278377 chr1 159409688 159409688 T C rs758028749 OR10J1 Nonsynonymous SNV I36T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.997 278378 chr1 15978230 15978230 C T rs769148278 DDI2 Synonymous SNV L341L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 278379 chr5 140553347 140553347 G A rs201447017 PCDHB7 Nonsynonymous SNV A311T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.992 278380 chr11 8435224 8435227 AAGA - rs774474836 STK33 S200Rfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 278381 chr5 140793290 140793290 C T PCDHGA10 Nonsynonymous SNV S183F 0 0 0 2 0 0 0.005 0 0 0 0 0 21.9 278382 chr11 9165715 9165715 C T rs117315126 DENND5A Nonsynonymous SNV R1054Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 278383 chr11 10523023 10523023 C T rs150947905 AMPD3 Synonymous SNV R417R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.88 278384 chr19 4504620 4504620 C T rs200236765 PLIN4 Nonsynonymous SNV E1323K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.173 278385 chr6 167754400 167754400 G A rs199616977 TTLL2 Nonsynonymous SNV D338N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 278386 chr6 167754963 167754963 G A rs35259397 TTLL2 Synonymous SNV A525A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.751 278387 chr19 5144379 5144379 G A rs143239564 KDM4B Nonsynonymous SNV D953N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 278388 chr19 5215557 5215557 C T rs777445829 PTPRS Synonymous SNV T935T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 278389 chr19 5733894 5733894 C T rs755637505 CATSPERD Nonsynonymous SNV H102Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.5 278390 chr6 159653740 159653740 C A FNDC1 Synonymous SNV T732T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.81 278391 chr1 173835110 173835113 AGTT - rs559123072 SNORD44 0 0 0.003 0 0 0 0 1 0 0 0 0 278392 chr19 7618777 7618777 G A rs1030480370 PNPLA6 Synonymous SNV V759V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.997 278393 chr19 7696691 7696691 C T rs146240104 PCP2 Nonsynonymous SNV G83R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 278394 chr1 17601155 17601155 G A rs143899778 PADI3 Nonsynonymous SNV R394Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 278395 chr6 161020672 161020672 G - rs760356619 LPA V1051Yfs*31 0 0 0 1 0 0 0.003 0 0 0 0 0 278396 chr6 28200648 28200648 C T rs372971429 ZSCAN9 Stop gain R293X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 278397 chr1 183196727 183196727 G A rs748731218 LAMC2 Nonsynonymous SNV D455N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.4 278398 chr6 35392267 35392267 C T rs9658163 PPARD Synonymous SNV F165F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.91 278399 chr6 35437243 35437243 C A RPL10A Nonsynonymous SNV P83T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 278400 chr3 49897142 49897142 C T rs199584164 CAMKV Nonsynonymous SNV R372H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 278401 chr1 200842294 200842294 C T rs142815881 GPR25 Synonymous SNV P43P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 278402 chr1 200943265 200943265 G A rs144008675 KIF21B Synonymous SNV R1611R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 278403 chr1 200959118 200959118 A G rs140828785 KIF21B Synonymous SNV A1028A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.522 278404 chr19 9296793 9296793 G A rs148442229 OR7D2 Synonymous SNV T112T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.983 278405 chr6 36993681 36993681 G A FGD2 Synonymous SNV E524E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.665 278406 chr6 41766458 41766458 G A rs369650373 USP49 Nonsynonymous SNV A627V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 278407 chr6 42585164 42585164 G A UBR2 Synonymous SNV Q400Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.92 278408 chr1 202795265 202795265 G A rs116354523 MGAT4EP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.977 278409 chr1 204091421 204091421 C T rs760432038 SOX13 Synonymous SNV N306N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 278410 chr19 12127479 12127479 A T rs369162478 ZNF433 Nonsynonymous SNV I68N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 278411 chr5 35691307 35691307 T C rs369816083 SPEF2 Synonymous SNV L565L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.048 278412 chr19 14675795 14675795 C T rs751616597 TECR Synonymous SNV A199A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 278413 chr19 13059025 13059025 A G RAD23A Nonsynonymous SNV E90G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 278414 chr1 222700319 222700319 G A rs369967771 HHIPL2 Synonymous SNV D599D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.888 278415 chr19 17013521 17013521 A T rs199691354 CPAMD8 Nonsynonymous SNV D1541E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.09 278416 chr5 95768740 95768740 G T PCSK1 Synonymous SNV R3R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 278417 chr19 17356016 17356016 G A NR2F6 Nonsynonymous SNV T5I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 278418 chr19 17571645 17571645 G A rs201151826 NXNL1 Nonsynonymous SNV R12C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 278419 chr19 18194256 18194256 G A rs142484991 IL12RB1 Nonsynonymous SNV P37L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.298 278420 chr1 228560317 228560317 G A rs201098610 OBSCN Nonsynonymous SNV V7280M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 278421 chr19 18775159 18775159 G A rs770409355 KLHL26 Nonsynonymous SNV A58T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 278422 chr6 76604542 76604542 A G rs9447572 MYO6 Nonsynonymous SNV Y1040C 0 0 0 1 0 0 0.003 0 0 0 0 0 5.75 278423 chr6 76618235 76618235 C T rs9443199 MYO6 Synonymous SNV C1078C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 11.47 278424 chr19 32930801 32930801 G A rs796176197 DPY19L3 Nonsynonymous SNV M280I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 278425 chr19 33183217 33183217 G A rs745700759 NUDT19 Synonymous SNV T117T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 278426 chr1 23761096 23761096 C T rs150324380 ASAP3 Nonsynonymous SNV V580I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 278427 chr19 31769550 31769550 C T rs148943651 TSHZ3 Synonymous SNV S383S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.094 278428 chr5 93859642 93859642 T C rs758127035 KIAA0825 Nonsynonymous SNV K98R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 14.89 278429 chr19 35450399 35450399 C T ZNF792 Synonymous SNV R120R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.369 278430 chr19 33372755 33372766 CTGCTGCAGCGC - rs750427112 CEP89 A707_Q710del 0.001 0 0 0 1 0 0 0 0 0 0 0 278431 chr19 34003666 34003666 C T rs201992066 PEPD Nonsynonymous SNV G12R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29.7 278432 chr19 36303771 36303771 C A rs148112482 PRODH2 Synonymous SNV G55G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 278433 chr19 37854418 37854418 C T rs142002230 ZNF875 Nonsynonymous SNV A514V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 278434 chr4 178274840 178274840 C T rs114112493 NEIL3 Nonsynonymous SNV S473L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.293 278435 chr19 36884283 36884283 A - ZFP82 L321Cfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 278436 chr19 38376594 38376594 G A rs142857310 WDR87 Stop gain R2573X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 278437 chr7 103214593 103214593 T C rs202161592 RELN Nonsynonymous SNV N1486S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 0.094 278438 chr11 67926250 67926250 A G rs199581094 KMT5B Synonymous SNV P349P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.135 278439 chr19 38882612 38882612 A C rs762358721 SPRED3 Synonymous SNV P68P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.74 278440 chr19 38684234 38684234 C T SIPA1L3 Nonsynonymous SNV R1552C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278441 chr11 71717109 71717109 C G rs200321459 NUMA1 Nonsynonymous SNV Q1874H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 278442 chr1 26570744 26570744 G A rs35831900 CEP85 Nonsynonymous SNV R48H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.8 278443 chr1 26570760 26570760 C A rs115133994 CEP85 Synonymous SNV A53A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.5 278444 chr1 26608805 26608805 A G rs529818127 UBXN11 Synonymous SNV S396S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.202 278445 chr6 127898374 127898374 T G rs150182872 C6orf58 Nonsynonymous SNV F15C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 278446 chr1 26608808 26608819 GGGTCCAGGACA - UBXN11 C392_P395del 0 0 0.003 0 0 0 0 1 0 0 0 0 278447 chr1 26608829 26608829 G T UBXN11 Synonymous SNV G388G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.569 278448 chr1 26608837 26608840 CGGG - rs758393836 UBXN11 P385Vfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 278449 chr1 26608842 26608843 CC - rs781506160 UBXN11 G384Sfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 278450 chr1 26608854 26608865 CCGGGACCGGGA - rs779969570 UBXN11 G378_P381del 0 0 0.003 0 0 0 0 1 0 0 0 0 278451 chr1 26608896 26608896 C G rs72872911 UBXN11 Nonsynonymous SNV C366S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 278452 chr19 40880464 40880464 G A rs750417438 PLD3 Nonsynonymous SNV R319Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 278453 chr1 26648705 26648705 G A rs113834286 CRYBG2 Nonsynonymous SNV S1616L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 278454 chr19 40711050 40711050 C T rs753852362 MAP3K10 Synonymous SNV H345H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.66 278455 chr1 27121140 27121140 C T rs34512715 PIGV Synonymous SNV N205N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.149 278456 chr1 27206171 27206171 C T rs34004288 GPN2 Synonymous SNV L310L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 278457 chr19 41245313 41245313 G A rs141298994 ITPKC Nonsynonymous SNV V634I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 278458 chr19 42777911 42777911 G A rs781702039 CIC Nonsynonymous SNV R659H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 278459 chr6 167719461 167719461 C T rs138052152 UNC93A Nonsynonymous SNV S258L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 278460 chr7 133984949 133984949 G A SLC35B4 Synonymous SNV L184L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 278461 chr1 3542065 3542065 G A rs375902957 TPRG1L Synonymous SNV V93V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.097 278462 chr19 44612223 44612223 C A ZNF224 Stop gain S637X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 278463 chr19 44680907 44680907 A G rs769558345 ZNF226 Nonsynonymous SNV T498A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 278464 chr1 38078563 38078563 C T rs372057847 RSPO1 Nonsynonymous SNV R156Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 278465 chr19 45561062 45561062 C T rs370248932 CLASRP Synonymous SNV A111A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.04 278466 chr19 45028189 45028189 C T CEACAM20 Stop gain W101X 0.001 0 0 0 1 0 0 0 0 0 0 0 7.794 278467 chr1 42050219 42050219 G A rs201845023 HIVEP3 Nonsynonymous SNV P84S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 278468 chr19 46214975 46214975 G C FBXO46 Synonymous SNV G593G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.327 278469 chr7 143573198 143573198 G A rs117822670 TCAF1 Synonymous SNV F168F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.702 278470 chr7 150767568 150767568 C G SLC4A2 Nonsynonymous SNV P483A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.14 278471 chr6 2890764 2890764 G C SERPINB9 Nonsynonymous SNV T255S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 278472 chr19 50105007 50105007 C T rs755194595 PRR12 Synonymous SNV P1535P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 278473 chr19 50138890 50138890 C T rs183538580 RRAS Synonymous SNV P200P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.52 278474 chr7 150920935 150920935 G A rs138611892 ABCF2, LOC114483834 Nonsynonymous SNV A184V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 278475 chr11 124735487 124735487 T C rs121918275 ROBO3 Nonsynonymous SNV L5P 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 28.2 278476 chr1 75078336 75078336 C A rs764912685 ERICH3 Synonymous SNV V386V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 278477 chr11 124793643 124793643 C T HEPACAM Nonsynonymous SNV V231I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 278478 chr19 52618971 52618971 A G ZNF616 Synonymous SNV A482A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.253 278479 chr19 52619006 52619006 C A ZNF616 Nonsynonymous SNV G471C 0.001 0 0 0 1 0 0 0 0 0 0 0 27 278480 chr1 887436 887436 G A rs202229466 NOC2L Synonymous SNV S425S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.338 278481 chr7 48428748 48428748 G C rs373271032 ABCA13 Nonsynonymous SNV S3862T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.057 278482 chr19 53856702 53856702 G A rs200114728 ZNF845 Nonsynonymous SNV R925H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 278483 chr19 54677821 54677821 C G rs752497719 MBOAT7 Nonsynonymous SNV A373P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 278484 chr6 64395532 64395532 A G rs375636945 PHF3 Nonsynonymous SNV M549V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 278485 chr19 54627128 54627128 G A rs368977441 PRPF31 Synonymous SNV G176G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 278486 chr19 54652176 54652176 C T rs370903869 CNOT3 Synonymous SNV S396S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.988 278487 chr1 977356 977356 C T rs149636063 AGRN Nonsynonymous SNV R400W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.2 278488 chr1 983643 983643 T C AGRN Nonsynonymous SNV S1335P 0 0 0.003 0 0 0 0 1 0 0 0 0 25 278489 chr7 43684889 43684889 G C rs941037634 COA1 Synonymous SNV L63L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.871 278490 chr19 55672067 55672067 G A rs545243133 DNAAF3 Nonsynonymous SNV T398I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.12 278491 chr7 45121939 45121939 G A rs767848146 NACAD Synonymous SNV A1280A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.801 278492 chr7 73634295 73634295 G A rs548651256 LAT2 Nonsynonymous SNV G62R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.512 278493 chr6 79650634 79650634 C T PHIP Nonsynonymous SNV D1748N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.73 278494 chr7 5112598 5112598 T C rs761114426 RBAKDN 0 0 0 2 0 0 0.005 0 0 0 0 0 0.77 278495 chr7 70255577 70255585 CCACCACCA - rs769378757 AUTS2 H1107_H1109del 0.001 0 0 0 1 0 0 0 0 0 0 0 278496 chr20 25462666 25462666 C T rs138248743 NINL Nonsynonymous SNV R583Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.032 278497 chr6 90499515 90499515 T C rs754203037 MDN1 Nonsynonymous SNV Y405C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 278498 chr19 58879726 58879726 C T ZNF837 Nonsynonymous SNV R325H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 278499 chr7 100551022 100551022 A C rs910805498 MUC3A Nonsynonymous SNV T535P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.107 278500 chr7 89897617 89897617 C A CFAP69 Nonsynonymous SNV P151T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 278501 chr20 39831297 39831297 C G ZHX3 Nonsynonymous SNV D754H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 278502 chr8 10690422 10690422 C T rs377715499 PINX1 Nonsynonymous SNV G68R 0.003 0 0 0 3 0 0 0 0 0 0 0 33 278503 chr20 3683992 3683992 C T rs746772819 SIGLEC1 Stop gain W360X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 278504 chr20 5100509 5100509 G C rs979750570 PCNA-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.197 278505 chr20 44512365 44512365 C G rs143504272 ZSWIM1 Synonymous SNV P378P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 278506 chr7 92732656 92732656 A G SAMD9 Nonsynonymous SNV S919P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 278507 chr7 95499198 95499198 A G DYNC1I1 Synonymous SNV R106R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.553 278508 chr12 50344860 50344860 G A rs751779733 AQP2 Nonsynonymous SNV V83I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 278509 chr20 50092120 50092120 C T rs201934996 NFATC2 Synonymous SNV P450P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 278510 chr20 55033660 55033660 C T rs150016338 CASS4 Nonsynonymous SNV L303F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 278511 chr7 112407616 112407616 A G rs143301490 TMEM168 Nonsynonymous SNV I577T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 278512 chr7 114271580 114271582 CAG - rs766979787 FOXP2 0.002 0 0 0 2 0 0 0 0 0 0 0 278513 chr20 31024254 31024254 C T rs146747814 ASXL1 Nonsynonymous SNV R1186C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.294 278514 chr8 135490902 135490902 C T rs188324571 ZFAT Synonymous SNV A1087A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.77 278515 chr7 101918568 101918568 C T rs375776301 CUX1 Synonymous SNV L485L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.88 278516 chr8 141582979 141582979 G C AGO2 Nonsynonymous SNV R90G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 278517 chr7 107353019 107353019 - TCT rs767671344 SLC26A4 E757_L758insS 0 0.003 0 2 0 1 0.005 0 0 0 0 0 278518 chr20 60988981 60988981 C T rs148498049 RBBP8NL Nonsynonymous SNV E476K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.197 278519 chr20 61167787 61167787 C T rs149173911 MIR1-1HG Nonsynonymous SNV T86M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 278520 chr20 61303154 61303154 C T rs149499822 SLCO4A1 Nonsynonymous SNV S693L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 278521 chr20 61492985 61492985 G C rs1011891001 TCFL5 Nonsynonymous SNV A13G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.293 278522 chr12 53552314 53552314 C T rs150011882 CSAD Nonsynonymous SNV R255Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 278523 chr20 40161878 40161878 C T rs762642233 CHD6 Nonsynonymous SNV R122Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 278524 chr7 121623831 121623831 T G PTPRZ1 Synonymous SNV V244V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.59 278525 chr20 62187520 62187520 C T rs200252251 FNDC11 Synonymous SNV A168A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.887 278526 chr7 12376614 12376614 G A rs373983333 VWDE Nonsynonymous SNV P1405S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 278527 chr8 144671180 144671180 C T rs746820089 EEF1D Nonsynonymous SNV V358M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.171 278528 chr20 62319676 62319676 C A rs758544821 RTEL1 Synonymous SNV P330P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.61 278529 chr8 144790263 144790263 T C CCDC166 Nonsynonymous SNV K6R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 278530 chr12 56092270 56092270 - C rs587780362 ITGA7 Frameshift insertion H368Sfs*15 0 0 0 1 0 0 0.003 0 0 0 0 0 278531 chr8 125072817 125072817 A G FER1L6 Nonsynonymous SNV K1005R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 278532 chr8 133673714 133673714 C T LRRC6 Nonsynonymous SNV G57E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 278533 chr8 144919974 144919974 T C rs147343613 MIR6845 0 0.005 0 0 0 2 0 0 0 0 0 0 6.976 278534 chr8 131226832 131226832 T C ASAP1 Synonymous SNV T125T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.442 278535 chr5 37125474 37125474 C G rs761880579 CPLANE1 Nonsynonymous SNV D2890H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28 278536 chr7 131883312 131883312 G A rs375620819 PLXNA4 Synonymous SNV I890I 0 0 0 2 0 0 0.005 0 0 0 0 0 10.23 278537 chr21 33756743 33756743 T C rs771374770 URB1 Nonsynonymous SNV I105V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 278538 chr7 141362537 141362537 T A rs375602245 DENND11 Synonymous SNV G429G 0 0 0 2 0 0 0.005 0 0 0 0 0 9.365 278539 chr7 141732659 141732659 C T rs201161396 MGAM Nonsynonymous SNV S540L 0 0 0 2 0 0 0.005 0 0 0 0 0 34 278540 chr7 141921813 141921813 C T rs773072884 MGAM2 Nonsynonymous SNV A2501V 0 0 0 2 0 0 0.005 0 0 0 0 0 1.528 278541 chr20 52192504 52192504 C G ZNF217 Synonymous SNV G933G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.058 278542 chr20 58514669 58514669 G A rs369153560 PPP1R3D Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 278543 chr5 56778235 56778235 A C rs147178651 ACTBL2 Nonsynonymous SNV D100E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 278544 chr7 142962151 142962151 C T rs144260278 GSTK1 Nonsynonymous SNV A74V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 278545 chr20 57269585 57269585 G A rs374171424 NPEPL1 Synonymous SNV T148T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.392 278546 chr5 71493027 71493027 C T rs200610946 MAP1B Nonsynonymous SNV T1156M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 278547 chr8 144895007 144895007 C T rs373230226 SCRIB Nonsynonymous SNV R256Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.05 278548 chr8 2064067 2064067 A G rs149568987 MYOM2 Nonsynonymous SNV Q1128R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 278549 chr21 43809152 43809152 G - rs727503493 TMPRSS3 H70Tfs*19 0.002 0 0.003 0 2 0 0 1 0 0 0 0 278550 chr21 44985474 44985474 G A H2BFS Nonsynonymous SNV V119I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.069 278551 chr12 103288689 103288689 T A PAH Nonsynonymous SNV D59V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.15 278552 chr8 22458730 22458730 A C C8orf58 Nonsynonymous SNV T126P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 278553 chr8 145113480 145113480 C T rs782320409 OPLAH Synonymous SNV T234T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.21 278554 chr21 45929120 45929120 C T rs782240082 TSPEAR Synonymous SNV A572A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 278555 chr8 145662172 145662172 G A rs34978644 TONSL Nonsynonymous SNV R620W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 278556 chr21 47423791 47423791 G A rs746877994 COL6A1 Nonsynonymous SNV R984H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 278557 chr21 31768651 31768651 C T KRTAP13-1 Nonsynonymous SNV P83S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 278558 chr21 47980659 47980659 A G DIP2A Nonsynonymous SNV T1328A 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 278559 chr21 33687395 33687395 A C URB1 Nonsynonymous SNV L2217R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 278560 chr8 33369883 33369883 C T rs758438191 TTI2 Synonymous SNV G83G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.46 278561 chr22 18613734 18613734 A G rs747184376 TUBA8 Nonsynonymous SNV K328R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 278562 chr7 1785666 1785666 C T rs191432685 ELFN1 Synonymous SNV P478P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.446 278563 chr8 37791833 37791833 - T rs370114090 GOT1L1 Frameshift insertion T415Nfs*11 0.002 0 0 0 2 0 0 0 0 0 0 0 278564 chr22 20230203 20230203 G A rs745427309 RTN4R Synonymous SNV R151R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.401 278565 chr8 22474933 22474933 A G rs139030883 CCAR2 Nonsynonymous SNV K616E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 278566 chr21 42080599 42080599 C G DSCAM Nonsynonymous SNV A48P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 278567 chr8 79609703 79609703 G A rs371962432 ZC2HC1A Nonsynonymous SNV R189Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 278568 chr8 95521985 95521985 A G rs150540241 VIRMA Synonymous SNV P1270P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.233 278569 chr22 31858934 31858934 T C EIF4ENIF1 Synonymous SNV T257T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.713 278570 chr8 97318687 97318687 A T PTDSS1 Nonsynonymous SNV T158S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 278571 chr22 37319326 37319326 C T rs199932177 CSF2RB Synonymous SNV Y39Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.326 278572 chr8 54142213 54142213 G A rs80036289 OPRK1 Stop gain R263X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 36 278573 chr22 38028008 38028008 A T GGA1 Nonsynonymous SNV I425F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 278574 chr9 1056887 1056887 C G rs147461872 DMRT2 Nonsynonymous SNV R260G 0.003 0.003 0 0 4 1 0 0 0 0 0 0 27.1 278575 chr7 6693618 6693618 C T ZNF316 Synonymous SNV H797H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.254 278576 chr13 32953543 32953543 T G rs1064793691 BRCA2 Nonsynonymous SNV I2948M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.89 278577 chr9 113704414 113704414 T C LPAR1 Nonsynonymous SNV N27S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.89 278578 chr22 21385706 21385706 G A rs752030694 SLC7A4 Synonymous SNV A132A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.006 278579 chr6 151785641 151785641 A G ARMT1 Nonsynonymous SNV Y30C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.081 278580 chr22 44168935 44168935 A C EFCAB6 Nonsynonymous SNV I63S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 278581 chr9 116854176 116854176 C T rs116937342 KIF12 Nonsynonymous SNV A503T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.007 278582 chr6 152673387 152673387 C T rs151081036 SYNE1 Synonymous SNV R3770R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.105 278583 chr22 46067974 46067974 C G rs551371726 ATXN10 Nonsynonymous SNV L11V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.604 278584 chr9 116931094 116931094 G A rs761618564 COL27A1 Nonsynonymous SNV R420H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 278585 chr7 91771907 91771907 - GA rs747198900 CYP51A1-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 278586 chr7 7841366 7841366 C A rs201796360 UMAD1 Nonsynonymous SNV P50T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.097 278587 chr22 26176056 26176056 G A rs371129815 MYO18B Nonsynonymous SNV R701Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.56 278588 chr9 101125001 101125001 A G GABBR2 Nonsynonymous SNV M630T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.88 278589 chr7 95657545 95657545 C A DYNC1I1 Nonsynonymous SNV T323N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 278590 chr7 87076407 87076407 G T ABCB4 Nonsynonymous SNV F316L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 278591 chr13 70370928 70370928 A C rs201759486 KLHL1 Nonsynonymous SNV N466K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 278592 chr7 88423783 88423783 G A rs377269794 TEX47 Synonymous SNV L158L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 278593 chr22 50658155 50658155 - GCCTCCGCCGCCGAT rs772648092 TUBGCP6 A1411_Q1412insSAAEA 0 0 0.003 0 0 0 0 1 0 0 0 0 278594 chr22 30766882 30766882 G T CCDC157 Stop gain E330X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278595 chr22 50728051 50728051 G A PLXNB2 Synonymous SNV A321A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.593 278596 chr22 30769713 30769713 G T rs180928061 CCDC157 Nonsynonymous SNV S488I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.94 278597 chr22 31059555 31059555 C T rs775345868 DUSP18 Nonsynonymous SNV G146S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278598 chr13 103383490 103383490 T C rs188083178 CCDC168 Synonymous SNV L6519L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 278599 chr22 37260112 37260112 G A rs575470394 NCF4 Nonsynonymous SNV V20I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.227 278600 chr13 103386022 103386022 C T rs187912807 CCDC168 Synonymous SNV P5675P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.785 278601 chr13 103387225 103387225 G A rs188989053 CCDC168 Synonymous SNV D5274D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.295 278602 chr13 103393330 103393330 A T rs58066589 CCDC168 Nonsynonymous SNV D3239E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.548 278603 chr13 103393333 103393333 C A rs58976427 CCDC168 Synonymous SNV V3238V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.665 278604 chr13 103393825 103393825 C T rs184239435 CCDC168 Synonymous SNV K3074K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.369 278605 chr13 103394817 103394817 C A rs184890468 CCDC168 Nonsynonymous SNV D2744Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.752 278606 chr8 114448951 114448951 T C CSMD3 Nonsynonymous SNV T45A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.732 278607 chr13 103400198 103400198 T G rs74109760 CCDC168 Nonsynonymous SNV K950T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.008 278608 chr13 103483991 103483991 T C rs34730033 BIVM, BIVM-ERCC5 Synonymous SNV H97H 0 0 0 1 0 0 0.003 0 0 0 0 0 2.268 278609 chr13 103510737 103510737 G A rs146833751 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R214H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 34 278610 chr22 38121237 38121237 C G rs749092668 TRIOBP Nonsynonymous SNV P892A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.254 278611 chr22 38336831 38336831 G A rs752569572 MICALL1 Synonymous SNV K862K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 278612 chr8 105459576 105459576 C T rs188038278 DPYS Synonymous SNV A193A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.34 278613 chr22 40814585 40814585 C T rs372005183 MRTFA Synonymous SNV P619P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 278614 chr22 42607176 42607176 G A rs781758485 TCF20 Nonsynonymous SNV T1379M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 278615 chr9 135470413 135470413 A G DDX31 Nonsynonymous SNV I726T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 278616 chr9 135470416 135470416 T A DDX31 Nonsynonymous SNV D725V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.367 278617 chr22 43442451 43442451 C T rs527949683 TTLL1 Synonymous SNV S369S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 278618 chr9 136645048 136645048 G A rs548048956 VAV2 Nonsynonymous SNV A575V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 278619 chr8 125531083 125531083 C G TATDN1 Nonsynonymous SNV A13P 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 278620 chr8 133673853 133673853 G A rs115536785 LRRC6 Nonsynonymous SNV R11W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 278621 chr22 50217628 50217628 G C rs141173800 BRD1 Nonsynonymous SNV S113W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 278622 chr8 134271463 134271463 G A rs750194735 NDRG1 Nonsynonymous SNV P47S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 29.1 278623 chr8 144296922 144296922 C G GPIHBP1 Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.954 278624 chr2 160690698 160690698 G T LY75, LY75-CD302 Nonsynonymous SNV P1233Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 278625 chr9 133927943 133927943 C T rs138637827 LAMC3 Nonsynonymous SNV P566S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.45 278626 chr2 1638096 1638096 C A rs936882138 PXDN 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 278627 chr8 144650363 144650363 G A MROH6 Synonymous SNV T571T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.363 278628 chrX 12904074 12904074 C T rs5743779 TLR7 Synonymous SNV S149S 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 2.214 278629 chr14 34269118 34269118 G A rs372667593 NPAS3 Synonymous SNV S505S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.73 278630 chr9 2643503 2643503 C T rs141850403 VLDLR Synonymous SNV C223C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 278631 chrX 16881097 16881097 A G RBBP7 Synonymous SNV H140H 0.002 0 0 0 2 0 0 0 1 0 0 0 3.865 278632 chr2 179404540 179404540 A G rs746586029 TTN Nonsynonymous SNV I23686T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.45 278633 chrX 63410713 63410713 C T rs746615931 AMER1 Synonymous SNV G818G 0.002 0 0 0 2 0 0 0 1 0 0 0 8.683 278634 chrX 70888499 70888499 G A LOC101059915 Synonymous SNV L282L 0.002 0 0 0 2 0 0 0 1 0 0 0 4.451 278635 chrX 39933819 39933819 G A BCOR Synonymous SNV S260S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 1.439 278636 chr2 179600714 179600714 C T rs376364888 TTN Nonsynonymous SNV G3576E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 278637 chr8 145623249 145623249 C T rs782058845 CPSF1 Nonsynonymous SNV V665I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.63 278638 chr9 139912320 139912320 C G ABCA2 Synonymous SNV L710L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 278639 chr8 22051640 22051640 G A rs750136928 BMP1 Nonsynonymous SNV R417H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 278640 chrX 68749634 68749634 G A rs61730420 FAM155B Synonymous SNV L418L 0.003 0 0 0 3 0 0 0 1 0 0 0 2.438 278641 chr9 5163993 5163993 G C rs180824328 INSL6 Nonsynonymous SNV L188V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 278642 chr2 186670428 186670428 T C rs370229032 FSIP2 Synonymous SNV N5465N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.059 278643 chr9 140120082 140120082 C A CYSRT1 Synonymous SNV P3P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.76 278644 chr9 77684663 77684663 C T NMRK1 Synonymous SNV R128R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.13 278645 chr8 27634028 27634028 T C ESCO2 Nonsynonymous SNV L68P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 278646 chr9 95872943 95872943 C T rs149980084 CARD19 Stop gain R82X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 278647 chr2 207171519 207171519 C T rs578168231 ZDBF2 Nonsynonymous SNV P756L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 278648 chr9 21971057 21971057 C A rs104894094 CDKN2A Nonsynonymous SNV G101W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 278649 chr8 38205138 38205138 C T NSD3 Synonymous SNV E184E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 278650 chrX 152915693 152915693 C T rs868961140 DUSP9 Nonsynonymous SNV A363V 0.002 0 0 0 2 0 0 0 1 0 0 0 6.592 278651 chr1 979784 979784 G A rs146863919 AGRN Nonsynonymous SNV R740Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.055 278652 chr1 1244049 1244049 C T rs745698070 PUSL1 Nonsynonymous SNV S9F 0 0.003 0 0 0 1 0 0 0 0 0 0 23 278653 chrX 154225281 154225281 C G F8 Nonsynonymous SNV A119P 0.002 0 0 0 2 0 0 0 1 0 0 0 23.6 278654 chr8 61732596 61732596 G T CHD7 Nonsynonymous SNV V882L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 278655 chr9 372284 372284 G A rs769519063 DOCK8 Nonsynonymous SNV E635K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 278656 chr2 216930083 216930083 C T rs138895713 PECR Nonsynonymous SNV A126T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 278657 chr1 2489846 2489846 C T rs143969082 TNFRSF14 Synonymous SNV G81G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.178 278658 chr9 37745689 37745689 C T rs59640173 FRMPD1 Synonymous SNV A1220A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.16 278659 chr1 2938405 2938405 A G rs772395277 ACTRT2 Nonsynonymous SNV N52S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.098 278660 chr2 219890815 219890815 G A rs141456868 CFAP65 Nonsynonymous SNV R760W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 278661 chr1 3786201 3786201 G A rs771599486 DFFB Synonymous SNV E205E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.362 278662 chr1 7910964 7910964 C T rs770384435 UTS2 Nonsynonymous SNV R41H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 278663 chr2 220496750 220496750 C T rs377314291 SLC4A3 Nonsynonymous SNV T318M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 278664 chr8 87641244 87641244 G A rs112847374 CNGB3 Synonymous SNV D461D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.301 278665 chr2 223489036 223489036 G A rs781692359 FARSB Synonymous SNV N375N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.122 278666 chr9 79922965 79922965 A G rs970555193 VPS13A Synonymous SNV Q1316Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.125 278667 chr1 10435429 10435429 A G rs150737970 KIF1B Nonsynonymous SNV I1756M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.6 278668 chr1 11839880 11839880 C G C1orf167 Synonymous SNV R891R 0 0.005 0 1 0 2 0.003 0 0 0 0 0 10.75 278669 chr2 234713657 234713657 G A rs863223390 MROH2A Nonsynonymous SNV R651Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 278670 chr2 238283531 238283531 G A rs907056422 COL6A3 Nonsynonymous SNV A461V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 278671 chrX 118540488 118540488 G A rs757536288 SLC25A43 Nonsynonymous SNV S114N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 278672 chr2 239140374 239140374 - CCGGGCCGCGGCGGC LOC643387 0 0 0.003 0 0 0 0 1 0 0 0 0 278673 chr2 239140376 239140376 - CCGGGCCGCGGCGGCCTCC LOC643387 0 0 0.003 0 0 0 0 1 0 0 0 0 278674 chr9 111656258 111656258 C T rs149845612 ELP1 Nonsynonymous SNV R593Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 278675 chr9 111956641 111956641 T G rs368481965 EPB41L4B Synonymous SNV A694A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 10.96 278676 chr1 22163463 22163463 G A rs200225298 HSPG2 Nonsynonymous SNV A3397V 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 11.89 278677 chr1 22167718 22167718 A G rs760790025 HSPG2 Nonsynonymous SNV V3131A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 278678 chr1 22211126 22211126 C T rs139719757 HSPG2 Nonsynonymous SNV A518T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.04 278679 chr9 117110125 117110125 C T AKNA Nonsynonymous SNV D974N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 278680 chr2 24962365 24962365 A T NCOA1 Nonsynonymous SNV N1089I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.63 278681 chr2 25360357 25360357 G A rs770082853 EFR3B Nonsynonymous SNV V535M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 278682 chr7 134719514 134719514 T C AGBL3 Nonsynonymous SNV L391P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 278683 chrX 151358315 151358315 C T rs139179813 GABRA3 Nonsynonymous SNV V344I 0 0 0 2 0 0 0.005 0 0 0 0 0 26.2 278684 chr2 27305539 27305539 G T EMILIN1 Nonsynonymous SNV R367L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 278685 chrX 153175980 153175980 G A ARHGAP4 Synonymous SNV Y634Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.291 278686 chr2 27730551 27730551 C A rs201731254 GCKR Nonsynonymous SNV P383T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 278687 chrX 153184450 153184450 C T ARHGAP4 Nonsynonymous SNV A290T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 278688 chr9 124094742 124094742 A G rs143285592 GSN Nonsynonymous SNV N737S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 278689 chr1 22211267 22211267 T C rs775821427 HSPG2 Synonymous SNV P500P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.742 278690 chr1 26299138 26299138 A G rs199892319 PAFAH2 Nonsynonymous SNV F332S 0.002 0.005 0 1 2 2 0.003 0 0 0 0 0 32 278691 chr2 29519767 29519767 C T ALK Nonsynonymous SNV D602N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.24 278692 chr2 32694483 32694483 T C rs751675368 BIRC6 Synonymous SNV L2050L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.89 278693 chr2 32750576 32750576 G A rs766431375 BIRC6 Nonsynonymous SNV R3934H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 278694 chr9 127818164 127818164 T C rs373100131 SCAI Nonsynonymous SNV N74S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 278695 chr1 25812263 25812263 T A rs375069766 MACO1 Synonymous SNV A264A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 278696 chrX 32716063 32716063 C A rs377587957 DMD Nonsynonymous SNV R287L 0 0 0 1 0 0 0.003 0 0 0 0 0 27 278697 chr10 119799851 119799851 C T rs910520155 RAB11FIP2 Nonsynonymous SNV M193I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.922 278698 chr1 34128619 34128619 C T rs368584183 CSMD2 Nonsynonymous SNV G1376R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 278699 chr1 34554715 34554715 G A rs370850896 CSMD2 Synonymous SNV Y89Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.246 278700 chr9 127781215 127781215 C A rs998378790 SCAI Nonsynonymous SNV V242L 0 0 0 2 0 0 0.005 0 0 0 0 0 21.1 278701 chrX 57313387 57313387 G C FAAH2 Synonymous SNV P43P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.425 278702 chr9 132630492 132630492 G A rs558804357 USP20 Nonsynonymous SNV R300H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 278703 chr9 132662721 132662721 C G rs200153012 FNBP1 Nonsynonymous SNV A483P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 278704 chr2 60773392 60773392 G A rs372838381 BCL11A Synonymous SNV H33H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 278705 chr2 69472361 69472361 G A rs150115584 ANTXR1 Nonsynonymous SNV R480H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 278706 chr1 36565766 36565766 C T rs200214388 COL8A2 Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 278707 chr1 43825455 43825455 C T rs775827806 CDC20 Synonymous SNV I130I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.48 278708 chr1 44435899 44435899 G A rs41270389 DPH2 Nonsynonymous SNV G18R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.13 278709 chr7 158664092 158664092 A C WDR60 Nonsynonymous SNV E64A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 278710 chr7 158889595 158889595 G A rs533811103 VIPR2 Synonymous SNV N80N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 278711 chr1 39889726 39889726 A G rs748537797 MACF1 Synonymous SNV R3330R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 278712 chr10 16918924 16918924 G A rs140524729 CUBN Synonymous SNV F3026F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.991 278713 chr1 46685433 46685433 C T rs145143376 LURAP1 Synonymous SNV I87I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.02 278714 chr10 102256987 102256987 C T rs149827193 SEC31B Nonsynonymous SNV E681K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 278715 chr15 66206228 66206228 T G rs150125637 MEGF11 Nonsynonymous SNV T853P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 22.3 278716 chr10 105331493 105331493 T C rs146396126 NEURL1 Nonsynonymous SNV M188T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.46 278717 chr9 139438537 139438537 G T rs769784635 NOTCH1 Nonsynonymous SNV P27T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 6.746 278718 chr2 96689174 96689174 C A GPAT2 Synonymous SNV R572R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.229 278719 chr10 114057846 114057846 G A rs553605975 TECTB Nonsynonymous SNV V231I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 278720 chr2 99977839 99977841 AAG - rs775348102 EIF5B K160del 0 0 0.003 0 0 0 0 1 0 0 0 0 278721 chr3 105422853 105422853 G A CBLB Synonymous SNV G475G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 278722 chr3 108163498 108163498 G A rs781102092 MYH15 Stop gain Q902X 0 0 0.003 2 0 0 0.005 1 0 0 0 0 40 278723 chr10 403783 403783 G A rs752522674 DIP2C Synonymous SNV N963N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 278724 chr15 80473479 80473479 C T rs767824538 FAH Synonymous SNV D386D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.17 278725 chr3 114035348 114035348 A G rs369217025 MIR568 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 278726 chr1 70639176 70639176 G A rs142537993 LRRC40 Synonymous SNV V361V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.39 278727 chr10 124339134 124339134 C T rs199795989 DMBT1 Synonymous SNV G240G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 278728 chr1 62232066 62232066 C T rs190078763 PATJ Nonsynonymous SNV S102L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.133 278729 chr15 85326349 85326349 A T rs957092219 ZNF592 Nonsynonymous SNV E148V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 278730 chr1 62672699 62672699 A G rs80040845 L1TD1 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.561 278731 chr1 63114215 63114215 T C rs550800563 DOCK7 Synonymous SNV K130K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.829 278732 chr1 63329730 63329730 A T rs368772637 ATG4C Nonsynonymous SNV Y426F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 278733 chr9 34257668 34257668 C A KIF24 Nonsynonymous SNV S646I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.7 278734 chr10 129903784 129903784 G A rs142477303 MKI67 Nonsynonymous SNV P1747L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.271 278735 chr9 37801039 37801039 C A rs200916317 DCAF10 Nonsynonymous SNV A59D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 278736 chr1 74937857 74937859 TCT - rs565475322 LRRC53 R483del 0.001 0 0 0 1 0 0 0 0 0 0 0 278737 chr10 50887763 50887763 T A C10orf53 Nonsynonymous SNV V7D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 278738 chr10 50948792 50948792 C T rs773025804 OGDHL Nonsynonymous SNV V493M 0 0.003 0 0 0 1 0 0 0 0 0 0 34 278739 chr1 91978730 91978730 A G rs143814781 CDC7 Nonsynonymous SNV I230V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 278740 chr1 85575739 85575739 G A rs774192929 WDR63 Synonymous SNV L530L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 278741 chr1 85666251 85666251 C A rs376834773 SYDE2 Nonsynonymous SNV Q143H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.815 278742 chr10 61028371 61028371 C T rs142854591 FAM13C Nonsynonymous SNV S295N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 278743 chr9 77632346 77632346 C T CARNMT1 Synonymous SNV R4R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.872 278744 chr10 61932724 61932724 C T rs143430852 ANK3 Synonymous SNV Q755Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.13 278745 chr10 69934296 69934296 C T rs111965755 MYPN Nonsynonymous SNV P816L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.9 278746 chr10 70450686 70450686 A G rs62638665 TET1 Synonymous SNV K1842K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 278747 chr10 71000427 71000427 T C rs7899445 HKDC1 Nonsynonymous SNV L204P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 278748 chr9 95050117 95050117 T C rs150293947 IARS1 Nonsynonymous SNV N118D 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 11.17 278749 chr9 95177627 95177627 T C rs142056236 OMD Nonsynonymous SNV H358R 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 0.001 278750 chr3 137982659 137982659 G A rs370444146 ARMC8 Nonsynonymous SNV V332I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 278751 chr10 71899756 71899756 T G rs61748803 TYSND1 Nonsynonymous SNV D542A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 278752 chr9 99296320 99296320 C G CDC14B Nonsynonymous SNV D242H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 278753 chr1 113051915 113051915 G A WNT2B Nonsynonymous SNV A11T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 278754 chr3 150285481 150285481 C T rs1048032752 EIF2A Synonymous SNV N98N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.95 278755 chr3 150916516 150916516 T C GPR171 Nonsynonymous SNV K220E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 278756 chr3 154859862 154859862 A G rs138218277 MME Nonsynonymous SNV Y347C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 278757 chr3 15683597 15683597 G A rs201408641 BTD Synonymous SNV R164R 0 0 0.007 0 0 0 0 2 0 0 0 0 5.452 278758 chr10 75560286 75560286 G A ZSWIM8-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.601 278759 chr10 95661163 95661163 G A rs763716898 SLC35G1 Synonymous SNV T338T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.393 278760 chr1 152323427 152323427 C T rs138450657 FLG2 Nonsynonymous SNV A2279T 0 0.005 0 0 0 2 0 0 0 0 0 0 7.99 278761 chr1 152331289 152331289 C T rs139344711 FLG2 Synonymous SNV E24E 0 0.005 0 0 0 2 0 0 0 0 0 0 9.303 278762 chr16 3598732 3598732 G A rs372831442 NLRC3 Synonymous SNV H875H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.64 278763 chr16 3639211 3639211 G A rs1041648763 SLX4 Synonymous SNV T1476T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.308 278764 chr10 91511200 91511200 A G KIF20B Synonymous SNV K1398K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.503 278765 chr10 5789503 5789503 A G rs202111478 TASOR2 Synonymous SNV K1292K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.465 278766 chrX 16170689 16170689 C A rs747542360 GRPR Nonsynonymous SNV T359N 0.002 0 0 0 2 0 0 0 1 0 0 0 27 278767 chr16 4511829 4511829 C T rs771402910 NMRAL1 Synonymous SNV T284T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.73 278768 chr3 183490235 183490235 T G rs756565594 YEATS2 Nonsynonymous SNV V697G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 278769 chr10 96117964 96117964 T G rs201609399 NOC3L Nonsynonymous SNV I76L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.18 278770 chr1 154319204 154319204 G A rs187911863 ATP8B2 Nonsynonymous SNV D1064N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.5 278771 chr1 154558739 154558739 G A rs771995348 ADAR Synonymous SNV I745I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.54 278772 chr10 99139522 99139522 G A rs148268099 RRP12 Synonymous SNV L413L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.03 278773 chr3 186006594 186006594 C T rs375556558 DGKG Nonsynonymous SNV R150Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.515 278774 chr8 125072891 125072891 G A rs138376786 FER1L6 Nonsynonymous SNV V1030M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 278775 chr1 156846300 156846300 G A rs150579345 NTRK1 Nonsynonymous SNV E575K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 35 278776 chr10 73491875 73491875 G A rs758413650 CDH23 Nonsynonymous SNV V1283M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.6 278777 chr1 157767706 157767706 C A rs148358454 FCRL1 Nonsynonymous SNV V380F 0 0.005 0 0 0 2 0 0 0 0 0 0 23.2 278778 chr1 153915574 153915574 G C rs769672910 DENND4B Nonsynonymous SNV P128R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 278779 chr10 79773414 79773414 C A rs12255950 POLR3A Synonymous SNV L522L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 17.08 278780 chr1 155931474 155931474 C T rs148985760 ARHGEF2 Synonymous SNV K482K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.83 278781 chr3 25900275 25900275 T G rs763649460 LINC00692 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 278782 chr11 1081079 1081079 G A rs369057364 MUC2 Nonsynonymous SNV V459I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.94 278783 chr11 102643589 102643589 G A rs751590059 MMP10 Synonymous SNV D405D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.159 278784 chr1 161047303 161047303 C A rs367813985 NECTIN4 Nonsynonymous SNV V224L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 278785 chr1 161130541 161130541 G T rs149171020 USP21 Nonsynonymous SNV E66D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 278786 chr1 173800731 173800731 G T rs121918208 DARS2 Nonsynonymous SNV C152F 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 27.2 278787 chr1 162482333 162482333 G A UHMK1 Nonsynonymous SNV A224T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 278788 chr11 108384835 108384835 C T EXPH5 Nonsynonymous SNV G279R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 278789 chr11 113631076 113631076 C T ZW10 Synonymous SNV L145L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 278790 chr3 45804431 45804431 G A rs111981498 SLC6A20 Synonymous SNV A442A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 278791 chr10 123276974 123276974 C T rs121918504 FGFR2 Nonsynonymous SNV A200T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.6 278792 chr10 123971129 123971129 T C rs186794327 TACC2 Nonsynonymous SNV S475P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 278793 chr3 47044215 47044215 G A rs201887911 NBEAL2 Synonymous SNV T1760T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.03 278794 chr1 177902760 177902760 A G CRYZL2P-SEC16B, SEC16B Synonymous SNV A520A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.891 278795 chr11 117241824 117241826 AGA - rs764638875 CEP164 K267del 0.001 0 0 0 1 0 0 0 0 0 0 0 278796 chr1 179304783 179304783 A G rs780116186 SOAT1 Nonsynonymous SNV H49R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.325 278797 chr1 197021933 197021933 G A rs751913473 F13B Synonymous SNV N462N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.94 278798 chr11 119509456 119509456 C T NECTIN1 Synonymous SNV V404V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.435 278799 chr11 120352090 120352090 G A rs369686811 ARHGEF12 Synonymous SNV Q1434Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.996 278800 chr3 51737931 51737931 G A TEX264 Nonsynonymous SNV E207K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 278801 chr11 102649437 102649437 C T rs374394583 MMP10 Synonymous SNV L180L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.499 278802 chr3 52479036 52479036 G A SEMA3G Nonsynonymous SNV P3L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 278803 chr11 124135000 124135000 C G OR8G5 Nonsynonymous SNV P93R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 278804 chr3 63981462 63981462 C G ATXN7 Nonsynonymous SNV T510R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 278805 chr10 15014587 15014587 C T MEIG1 Stop gain Q72X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 278806 chr11 118633996 118633996 G A rs782188113 DDX6 Synonymous SNV T222T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 278807 chr1 213147325 213147325 C T rs780081188 VASH2 Nonsynonymous SNV P259L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 278808 chr11 121178136 121178136 T C rs766772523 SC5D Nonsynonymous SNV M272T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.312 278809 chr11 16807803 16807803 T C PLEKHA7 Synonymous SNV Q1163Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.48 278810 chr4 106156384 106156384 G A rs201642693 TET2 Nonsynonymous SNV G429R 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 22.7 278811 chr10 32115311 32115311 T - ARHGAP12 K432Rfs*62 0 0 0 1 0 0 0.003 0 0 0 0 0 278812 chr16 88689677 88689677 G T rs137879594 ZC3H18 Nonsynonymous SNV R573L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22.9 278813 chr1 220088954 220088954 T C rs144098238 SLC30A10 Nonsynonymous SNV N432S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.52 278814 chr16 88782988 88782988 C T rs200555745 PIEZO1 Nonsynonymous SNV R2302H 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Uncertain significance 28.3 278815 chr10 45959722 45959722 G A rs768476811 MARCHF8 Synonymous SNV R69R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.62 278816 chr1 223536743 223536743 T G rs751519800 SUSD4 Nonsynonymous SNV N9H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.635 278817 chr8 75929637 75929637 G A CRISPLD1 Nonsynonymous SNV R174K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 278818 chr11 124180467 124180467 A G OR8D1 Synonymous SNV L66L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.634 278819 chr1 224301996 224301996 G A FBXO28 Synonymous SNV P55P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.9 278820 chr1 220346028 220346028 C T rs752461001 RAB3GAP2 Synonymous SNV Q789Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.39 278821 chr1 225347161 225347161 T C DNAH14 Synonymous SNV L1807L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.862 278822 chr11 20660064 20660064 C T rs774551994 SLC6A5 Synonymous SNV I409I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.92 278823 chr4 128694649 128694649 C T SLC25A31 Nonsynonymous SNV R290C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 278824 chr4 13544020 13544020 G A rs377066284 NKX3-2 Nonsynonymous SNV A200V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.55 278825 chr1 228431117 228431117 G A OBSCN Nonsynonymous SNV E1055K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.89 278826 chr1 41848090 41848090 C G FOXO6 Nonsynonymous SNV A406G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 278827 chr4 147561376 147561376 C G POU4F2 Nonsynonymous SNV P216A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.115 278828 chr4 15005650 15005650 C T rs769063840 CPEB2 Synonymous SNV P451P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.47 278829 chr9 108061524 108061524 G A rs147166443 SLC44A1 Synonymous SNV P20P 0.003 0 0 0 3 0 0 0 0 0 0 0 8.452 278830 chr1 231830494 231830494 C T rs557511436 DISC1 Synonymous SNV L330L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.507 278831 chr1 232941567 232941567 C T rs752826107 MAP10 Synonymous SNV R266R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 278832 chr1 47138993 47138993 - C rs776783500 TEX38 Frameshift insertion L165Pfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 278833 chr4 1730165 1730165 G A rs748310677 TACC3 Nonsynonymous SNV A346T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 278834 chr11 45924283 45924283 C T rs34420676 MAPK8IP1 Nonsynonymous SNV A322V 0 0.005 0.003 0 0 2 0 1 0 0 0 0 14.26 278835 chr11 45948307 45948307 G A rs146272277 LARGE2 Nonsynonymous SNV E404K 0 0.005 0.003 0 0 2 0 1 0 0 0 0 22.4 278836 chr10 75673417 75673417 C T rs145865648 PLAU Nonsynonymous SNV A177V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 35 278837 chr1 245850145 245850145 C T rs200519501 KIF26B Nonsynonymous SNV A1287V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 278838 chr4 1806059 1806059 G A rs757013992 FGFR3 Nonsynonymous SNV E360K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.86 278839 chr1 247464071 247464071 G A rs931512439 ZNF496 Nonsynonymous SNV A505V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.327 278840 chr11 27016174 27016174 A T FIBIN Nonsynonymous SNV H34L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 278841 chr11 4825193 4825193 T G OR52R1 Nonsynonymous SNV T140P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 278842 chr9 124064324 124064324 C T rs149415778 GSN Synonymous SNV F76F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 278843 chr4 2242083 2242083 T C rs372049466 HAUS3 Synonymous SNV Q197Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 278844 chr17 7468853 7468853 G A rs199612456 SENP3 Synonymous SNV L388L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.92 278845 chr10 95360558 95360558 G A RBP4 Synonymous SNV F38F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.767 278846 chr4 3189487 3189487 C G rs774757519 HTT Nonsynonymous SNV S1700C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 278847 chr1 248512289 248512289 C T rs541939168 OR14C36 Synonymous SNV Y71Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.898 278848 chr2 8822472 8822472 G A rs149826728 ID2 Synonymous SNV V59V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.697 278849 chr2 1893188 1893188 G A rs749429732 MYT1L Nonsynonymous SNV P782L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 278850 chr4 40351328 40351328 C T rs752954439 CHRNA9 Synonymous SNV S265S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 278851 chr2 11774311 11774311 C T rs373456450 GREB1 Synonymous SNV I1682I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 278852 chr2 25022696 25022696 C T rs752482259 CENPO Nonsynonymous SNV R61W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.38 278853 chr4 6293094 6293094 G A rs138682654 WFS1 Nonsynonymous SNV D211N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 278854 chr2 27682584 27682584 G A rs761022629 IFT172 Synonymous SNV I878I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 278855 chr2 27802749 27802749 C T rs201036275 C2orf16 Nonsynonymous SNV P1104S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 278856 chr2 28843166 28843166 A T rs746527860 PLB1 Nonsynonymous SNV D1106V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 278857 chr11 108709178 108709178 A G rs746786028 DDX10 Synonymous SNV K657K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.139 278858 chr9 139617837 139617837 G A rs751619988 DIPK1B Nonsynonymous SNV V303M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 278859 chr2 37259794 37259794 C T rs758736294 HEATR5B Synonymous SNV G1113G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.5 278860 chr2 38178684 38178684 A G rs370260752 RMDN2 Nonsynonymous SNV D109G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 278861 chr2 45169591 45169591 C T rs573768953 SIX3 Synonymous SNV P116P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.65 278862 chr2 48027909 48027909 C G rs768005323 MSH6 Synonymous SNV P799P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.425 278863 chr2 48132834 48132834 C A FBXO11 Nonsynonymous SNV R9L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 278864 chr2 54001536 54001536 A G rs778260340 CHAC2 Synonymous SNV E143E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.49 278865 chr4 88536980 88536980 A G rs201074114 DSPP Nonsynonymous SNV N1056D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 278866 chr2 55764648 55764648 A G rs751197849 CFAP36 Synonymous SNV T189T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.611 278867 chr4 88973149 88973149 G A rs148920907 PKD2 Nonsynonymous SNV V519M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 278868 chr5 101816108 101816108 A G rs777738453 SLCO6A1 Nonsynonymous SNV I130T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.419 278869 chr2 70031704 70031704 G A rs377447418 ANXA4 Nonsynonymous SNV R46H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 278870 chr5 111311047 111311047 T C rs368831060 NREP Nonsynonymous SNV Q20R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.364 278871 chr5 111545669 111545669 G A rs556603189 EPB41L4A Synonymous SNV S366S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 278872 chr2 74454673 74454673 C T rs149351086 SLC4A5 Nonsynonymous SNV E979K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.468 278873 chr5 118513842 118513842 T C rs148050244 DMXL1 Synonymous SNV I2346I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.776 278874 chr2 88425785 88425785 G A FABP1 Synonymous SNV F50F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 278875 chr5 122909132 122909132 A G rs139101160 CSNK1G3 Nonsynonymous SNV N37S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 278876 chr2 98273378 98273378 C T rs147578035 ACTR1B Synonymous SNV V358V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.63 278877 chr11 60889246 60889246 C A CD5 Nonsynonymous SNV S266R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.156 278878 chr5 13839476 13839476 T C DNAH5 Synonymous SNV P1957P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.392 278879 chr2 110036037 110036037 C T rs371939458 SH3RF3 Nonsynonymous SNV R448W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 278880 chr2 113333205 113333205 C T rs765193966 POLR1B Nonsynonymous SNV R892C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 278881 chr2 114503880 114503880 T C SLC35F5 Nonsynonymous SNV T146A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 278882 chr5 140573173 140573173 T G PCDHB10 Nonsynonymous SNV S350A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.532 278883 chr2 122215331 122215331 G A rs201953903 CLASP1 Synonymous SNV H439H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 278884 chr5 140784525 140784525 C G PCDHGA9 Nonsynonymous SNV P669R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 278885 chr2 145156297 145156297 T C rs144184948 ZEB2 Synonymous SNV S795S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.155 278886 chr11 6592190 6592190 G A rs200986274 DNHD1 Nonsynonymous SNV G4483D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.54 278887 chr11 67410289 67410289 T C rs148549665 ACY3 Nonsynonymous SNV Y289C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 278888 chr11 67059166 67059166 G A rs140647228 ANKRD13D Nonsynonymous SNV E164K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 278889 chr2 170667781 170667781 G A rs555917812 SSB Synonymous SNV T362T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 278890 chr11 70338494 70338494 C T rs781864336 SHANK2 Synonymous SNV A207A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 278891 chr17 76421463 76421463 G A rs774915664 DNAH17 Stop gain R4369X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 278892 chr11 66033385 66033385 C T rs201554573 KLC2 Nonsynonymous SNV R425W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 278893 chr5 171217923 171217923 T C SMIM23 Nonsynonymous SNV L117P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 278894 chr11 66393991 66393991 A T RBM14 Nonsynonymous SNV Q621L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 278895 chr5 176056570 176056570 G A rs1049011088 SNCB Nonsynonymous SNV A29V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 278896 chr11 66888827 66888827 T C KDM2A Synonymous SNV L14L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.06 278897 chr2 179569982 179569982 C G TTN Nonsynonymous SNV M8597I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 278898 chr11 76256984 76256984 G T EMSY Nonsynonymous SNV Q1140H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.4 278899 chr11 76257003 76257003 G T EMSY Nonsynonymous SNV V1147L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 278900 chr11 7642209 7642209 A T PPFIBP2 Nonsynonymous SNV E78V 0 0.003 0 0 0 1 0 0 0 0 0 0 31 278901 chr2 179602948 179602948 G T rs55906845 TTN Nonsynonymous SNV D4381E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 278902 chr11 7713158 7713158 G A OVCH2 Synonymous SNV S494S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.341 278903 chr11 7716322 7716322 C G OVCH2 Nonsynonymous SNV W460C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 278904 chr1 914527 914527 G A rs779857282 PERM1 Nonsynonymous SNV S628L 0 0 0 3 0 0 0.008 0 0 0 0 0 6.228 278905 chr5 179201227 179201227 C G MAML1 Nonsynonymous SNV N800K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 278906 chr11 77907863 77907863 A G USP35 Nonsynonymous SNV Q191R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.57 278907 chr11 6913440 6913440 C T rs151328039 OR2D2 Nonsynonymous SNV A98T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.481 278908 chr2 186629245 186629245 A T FSIP2 Nonsynonymous SNV D455V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 278909 chr2 190541518 190541518 A G rs772319606 ANKAR Nonsynonymous SNV H101R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 278910 chr5 34823133 34823133 C A RAI14 Nonsynonymous SNV P367T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 278911 chr11 87032321 87032321 G T rs141673499 TMEM135 Nonsynonymous SNV R419S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 278912 chr18 333124 333124 C T rs147524076 COLEC12 Synonymous SNV K612K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 278913 chr5 40843342 40843342 G A rs148880911 CARD6 Synonymous SNV Q124Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.334 278914 chr5 40934463 40934463 G A rs369091418 C7 Nonsynonymous SNV G59R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 278915 chr2 202514870 202514871 TT - rs764901964 MPP4 K467Efs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 278916 chr2 202549797 202549797 C T rs759565134 MPP4 Synonymous SNV A188A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 278917 chr18 2778168 2778168 A G rs886043464 SMCHD1 Synonymous SNV V1826V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.01 278918 chr11 92715111 92715111 G C rs752776157 MTNR1B Nonsynonymous SNV C241S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.266 278919 chr2 203152446 203152446 T C NOP58 Synonymous SNV I166I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 278920 chr11 77672027 77672027 C T INTS4 Nonsynonymous SNV R210H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 278921 chr11 9431475 9431475 G A rs144766309 IPO7 Synonymous SNV R107R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 16.09 278922 chr2 218750515 218750515 G A rs375284746 TNS1 Synonymous SNV S231S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 278923 chr5 71853061 71853061 T C rs1232835 LOC102503427 0 0 0.007 0 0 0 0 2 0 0 1 0 3.938 278924 chr2 219888010 219888010 G A rs144661790 CFAP65 Synonymous SNV F913F 0.003 0 0 0 3 0 0 0 0 0 0 0 9.26 278925 chr2 219874085 219874085 G T CFAP65 Nonsynonymous SNV A1517E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.767 278926 chr5 76249909 76249909 G T rs148007437 CRHBP Synonymous SNV P77P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.85 278927 chr12 110236612 110236612 C T TRPV4 Nonsynonymous SNV R273Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 278928 chr12 110429561 110429561 A G GIT2 Synonymous SNV P19P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.34 278929 chr18 46736065 46736065 C T rs746706729 DYM Nonsynonymous SNV R493Q 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.9 278930 chr12 112171740 112171740 G A rs747263800 ACAD10 Nonsynonymous SNV V470M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.48 278931 chr12 102155083 102155083 C T rs776312538 GNPTAB Nonsynonymous SNV R986H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 35 278932 chr5 79366976 79366976 G A THBS4 Nonsynonymous SNV A474T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 278933 chr12 104336476 104336476 C T HSP90B1 Nonsynonymous SNV H516Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 278934 chr1 19447891 19447891 C G rs375167690 UBR4 Synonymous SNV V3311V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.081 278935 chr5 89802351 89802351 - A rs753128879 POLR3G Frameshift insertion R151Kfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 278936 chr12 109354722 109354722 G A rs139276192 SVOP Synonymous SNV F132F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.915 278937 chr6 100061912 100061912 G C PRDM13 Synonymous SNV G467G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.351 278938 chr2 238289694 238289694 G A rs34978064 COL6A3 Synonymous SNV A180A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 4.732 278939 chr6 101214512 101214512 G C rs776648886 ASCC3 Nonsynonymous SNV P556A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.753 278940 chr6 109761759 109761759 G A PPIL6 Nonsynonymous SNV A12V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.221 278941 chr2 239038950 239038950 G A rs145050018 ESPNL Nonsynonymous SNV R164Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 278942 chr11 58723134 58723134 G - GLYATL1 Stop gain V182* 0 0 0 1 0 0 0.003 0 0 0 0 0 278943 chr2 241465652 241465652 C T rs768098181 ANKMY1 Synonymous SNV A299A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.46 278944 chr12 130963523 130963523 C T rs372411438 RIMBP2 Synonymous SNV Q12Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.624 278945 chr2 242573054 242573054 C T rs775668991 THAP4 Nonsynonymous SNV R173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 278946 chr19 871950 871950 G A MED16 Synonymous SNV L692L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.534 278947 chr12 132628440 132628440 C G DDX51 Nonsynonymous SNV A107P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.432 278948 chr12 132628442 132628442 T G rs1007299005 DDX51 Nonsynonymous SNV E106A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.031 278949 chr6 127517027 127517027 A G RSPO3 Nonsynonymous SNV I232V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 278950 chr6 127648199 127648199 G C ECHDC1 Nonsynonymous SNV T29S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 278951 chr3 3216933 3216933 C T rs78564552 CRBN Nonsynonymous SNV E29K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 278952 chr1 35260708 35260708 G C GJA4 Nonsynonymous SNV E298D 0 0 0 3 0 0 0.008 0 0 0 0 0 24.3 278953 chr6 137468901 137468901 T C rs142223239 IL22RA2 Synonymous SNV E168E 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 278954 chr1 36938147 36938147 G T CSF3R Nonsynonymous SNV P272T 0.001 0 0 3 1 0 0.008 0 0 0 0 0 13.22 278955 chr6 138584092 138584092 C T rs34767816 ARFGEF3 Nonsynonymous SNV T491M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 278956 chr3 12851591 12851591 C T rs890708403 CAND2 Synonymous SNV S82S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 278957 chr1 39341324 39341324 G A rs375468847 GJA9 Synonymous SNV L149L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.371 278958 chr11 62292649 62292649 T G rs583207 AHNAK Nonsynonymous SNV K3080N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 278959 chr6 144761508 144761508 G A rs758629361 UTRN Synonymous SNV E471E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 278960 chr19 2733226 2733226 G A SLC39A3 Synonymous SNV S156S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.152 278961 chr1 40734121 40734121 G C ZMPSTE24 Nonsynonymous SNV A130P 0 0 0 3 0 0 0.008 0 0 0 0 0 23.1 278962 chr3 11301693 11301693 G A rs147652731 HRH1 Nonsynonymous SNV V324I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 278963 chr12 25148754 25148754 C T rs116035579 C12orf77 Nonsynonymous SNV G132R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.82 278964 chr12 25148872 25148872 A T rs116652382 C12orf77 Stop gain Y92X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 278965 chr12 132400484 132400484 G A rs371730429 ULK1 Nonsynonymous SNV R553H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 278966 chr12 132636290 132636290 C T rs142849510 NOC4L Synonymous SNV D414D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.086 278967 chr3 32030645 32030645 - TT ZNF860 Frameshift insertion R27Lfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 278968 chr12 40677757 40677757 G A rs146103273 LRRK2 Synonymous SNV A774A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.86 278969 chr12 18649058 18649058 G A PIK3C2G Synonymous SNV P911P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.31 278970 chr1 46661573 46661573 C T rs142016718 POMGNT1 Synonymous SNV V126V 0 0 0 4 0 0 0.01 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.59 278971 chr6 159139210 159139210 C G SYTL3 Nonsynonymous SNV S23R 0 0 0.003 0 0 0 0 1 0 0 0 0 29 278972 chr11 65062079 65062079 A G rs772682890 POLA2 Synonymous SNV T472T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.251 278973 chr12 48921817 48921817 G A rs200382430 OR8S1 Synonymous SNV P337P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.806 278974 chr12 250282 250282 A C rs782599582 LOC574538 0 0 0 1 0 0 0.003 0 0 0 0 0 9.426 278975 chr19 5220140 5220140 T C rs376266471 PTPRS Nonsynonymous SNV Q761R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.496 278976 chr6 160543236 160543236 G A rs138657404 SLC22A1 Nonsynonymous SNV R90H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 278977 chr12 49445536 49445536 T C KMT2D Nonsynonymous SNV M644V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 278978 chr3 41705129 41705129 C T rs745380313 ULK4 Nonsynonymous SNV A712T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 278979 chr3 38520623 38520623 A G rs757764446 ACVR2B Nonsynonymous SNV K224R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 278980 chr3 38739353 38739353 G A rs188413410 SCN10A Synonymous SNV I1688I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 2.838 278981 chr6 168289904 168289904 C A AFDN Nonsynonymous SNV P303T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 278982 chr1 55282731 55282731 C G rs143295653 LEXM Nonsynonymous SNV R374G 0 0 0 4 0 0 0.01 0 0 0 0 0 26 278983 chr2 55920950 55920950 G C rs762681171 PNPT1 Synonymous SNV A3A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 278984 chr19 7684640 7684640 C T XAB2 Synonymous SNV E833E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 278985 chr6 17120892 17120892 G A rs555887143 STMND1 Nonsynonymous SNV R105Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 278986 chr12 44166753 44166753 A G rs141209982 IRAK4 Nonsynonymous SNV T53A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.1 278987 chr11 67265688 67265688 G A rs778995855 PITPNM1 Synonymous SNV G530G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 278988 chr3 44670677 44670677 - T ZNF197, ZNF660-ZNF197 Frameshift insertion R12Efs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 278989 chr1 65335030 65335030 T A JAK1 Nonsynonymous SNV K204M 0 0 0 3 0 0 0.008 0 0 0 0 0 17.19 278990 chr3 44955082 44955082 G A TGM4 Synonymous SNV V640V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.663 278991 chr1 67845723 67845723 G A rs771339755 IL12RB2 Nonsynonymous SNV R505Q 0 0 0 3 0 0 0.008 0 0 0 0 0 16.73 278992 chr3 45637370 45637370 C T rs61731460 LIMD1 Synonymous SNV P333P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.68 278993 chr6 27115019 27115019 G A rs753901816 HIST1H2AH Nonsynonymous SNV G38S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 278994 chr12 49436073 49436073 C T rs565881981 KMT2D Nonsynonymous SNV D1970N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 278995 chr3 46415409 46415409 A T rs1800945 CCR5 Nonsynonymous SNV Y339F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.012 278996 chr6 27292753 27292753 A G rs141811713 VN1R10P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.927 278997 chr6 27293161 27293161 C A rs769226957 VN1R10P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.966 278998 chr6 28200513 28200513 C T rs765764404 ZSCAN9 Nonsynonymous SNV L248F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 278999 chr3 47163422 47163422 C G rs58906143 SETD2 Nonsynonymous SNV E858Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.9 279000 chr3 47164922 47164922 G A rs779483918 SETD2 Nonsynonymous SNV R358W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.5 279001 chr3 49940698 49940698 G - rs758062275 MST1R G116Vfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 279002 chr3 47451263 47451263 C T rs116521545 PTPN23 Synonymous SNV L564L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.55 279003 chr3 47452717 47452717 C T rs114781181 PTPN23 Synonymous SNV P1017P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.004 279004 chr3 52325001 52325001 C T rs202064224 GLYCTK Nonsynonymous SNV R135C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 279005 chr1 86959278 86959278 C T CLCA1 Nonsynonymous SNV A559V 0 0 0 2 0 0 0.005 0 0 0 0 0 28.6 279006 chr3 50095343 50095343 C A RBM6 Nonsynonymous SNV L104M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 279007 chr3 50332852 50332852 C T rs782659618 HYAL3 Nonsynonymous SNV R61H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 279008 chr3 50677830 50677830 G A MAPKAPK3 Nonsynonymous SNV V85I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 279009 chr12 56619209 56619209 G A rs767751192 NABP2 Synonymous SNV A44A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.83 279010 chr11 75623058 75623058 T C UVRAG Nonsynonymous SNV S190P 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 279011 chr3 52257107 52257107 C G TLR9 Nonsynonymous SNV G409R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.868 279012 chr2 86271313 86271313 C T rs371172621 POLR1A Synonymous SNV K1028K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 279013 chr12 57574495 57574495 C T rs764345628 LRP1 Nonsynonymous SNV T1811I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 279014 chr2 98732189 98732189 G A rs199632420 VWA3B Nonsynonymous SNV E91K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 279015 chr19 10421536 10421536 C G FDX2 Nonsynonymous SNV E133Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28 279016 chr3 53289886 53289886 T C rs782431137 TKT Nonsynonymous SNV S25G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.138 279017 chr6 41774255 41774255 C T rs192438668 USP49 Nonsynonymous SNV R156Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.9 279018 chr12 55421175 55421175 C T rs371227002 NEUROD4 Nonsynonymous SNV H318Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 279019 chr3 67058647 67058647 C T rs201677673 KBTBD8 Synonymous SNV H548H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.598 279020 chr12 6978922 6978922 T C rs782307766 TPI1 Synonymous SNV T176T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.842 279021 chr19 13409887 13409887 C G rs769711107 CACNA1A Nonsynonymous SNV A855P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.05 279022 chr6 43494439 43494439 G T rs376843416 XPO5 Synonymous SNV P989P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 279023 chr6 44232916 44232916 C T rs776545801 NFKBIE Synonymous SNV K195K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 279024 chr3 88202490 88202490 A G rs138036641 C3orf38 Nonsynonymous SNV I82V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 279025 chr12 56558318 56558318 G C rs199731176 SMARCC2 Nonsynonymous SNV P1113A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 279026 chr11 93463101 93463101 A G rs371000677 CEP295 Nonsynonymous SNV T2545A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.224 279027 chr12 58001094 58001094 C T rs758845062 DTX3 Nonsynonymous SNV P153S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.44 279028 chr12 57441177 57441177 C T rs765501066 MYO1A Nonsynonymous SNV V114M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.2 279029 chr3 98072756 98072756 A T rs146155202 OR5K4 Nonsynonymous SNV Y20F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.691 279030 chr12 57619456 57619456 A G NXPH4 Nonsynonymous SNV S285G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 279031 chr3 98527011 98527011 C T rs34472032 DCBLD2 Synonymous SNV A528A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.84 279032 chr3 100275801 100275801 G A rs925973382 TMEM45A Nonsynonymous SNV A130T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 279033 chr2 128412460 128412460 C T rs770469332 LIMS2 Nonsynonymous SNV R61Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 279034 chr12 64712372 64712372 A G C12orf56 Nonsynonymous SNV W293R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.02 279035 chr6 56504402 56504402 G C rs138553142 DST Nonsynonymous SNV S365C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 279036 chr12 6669381 6669381 G A rs545010545 NOP2 Nonsynonymous SNV R554C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 279037 chr1 145578974 145578974 T C rs112106951 PIAS3 Synonymous SNV C184C 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign 0.064 279038 chr1 145586940 145586940 C T rs112245472 NUDT17 Nonsynonymous SNV E250K 0 0 0 3 0 0 0.008 0 0 0 0 0 5.774 279039 chr12 72425113 72425113 A T rs756147028 TPH2 Nonsynonymous SNV T414S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 279040 chr1 145597014 145597014 G C rs113683759 POLR3C Nonsynonymous SNV Q384E 0 0 0 3 0 0 0.008 0 0 0 0 0 8.056 279041 chr6 74110079 74110079 C T rs911588171 DDX43 Synonymous SNV C143C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.889 279042 chr12 7354899 7354899 G A rs184234003 PEX5 Synonymous SNV S235S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 13.46 279043 chr12 7456960 7456960 - T ACSM4 Frameshift insertion I13Hfs*25 0 0 0 1 0 0 0.003 0 0 0 0 0 279044 chr2 153533070 153533070 T C rs199801313 PRPF40A Nonsynonymous SNV I318V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.85 279045 chr12 111785868 111785868 C T rs369066161 CUX2 Synonymous SNV A1338A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.8 279046 chr1 152325588 152325588 A T FLG2 Nonsynonymous SNV H1558Q 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.06 279047 chr19 18899424 18899424 G T rs537695502 COMP Nonsynonymous SNV R247S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 279048 chr19 18974262 18974262 T C rs1007453760 UPF1 Synonymous SNV I883I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.136 279049 chr13 110437444 110437444 G A rs757177634 IRS2 Synonymous SNV V319V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.541 279050 chr1 154192319 154192319 G T C1orf43 Nonsynonymous SNV A54D 0 0 0 2 0 0 0.005 0 0 0 0 0 33 279051 chr6 90660573 90660573 C T rs34335140 BACH2 Nonsynonymous SNV A418T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 4.062 279052 chr12 119591380 119591380 T C SRRM4 Synonymous SNV S439S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 279053 chr12 120941658 120941658 C A COQ5 Nonsynonymous SNV G305C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 279054 chr7 100319254 100319254 A C rs761916506 EPO Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.639 279055 chr19 33167466 33167466 G C RGS9BP Synonymous SNV L99L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.517 279056 chr13 103393582 103393582 C T rs1052667964 CCDC168 Synonymous SNV E3155E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.886 279057 chr13 23907062 23907062 T C SACS Nonsynonymous SNV I3504M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 279058 chr3 130159091 130159091 A G rs749959502 COL6A5 Nonsynonymous SNV N1970S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.528 279059 chr3 130282228 130282228 C A rs200045160 COL6A6 Nonsynonymous SNV D127E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 279060 chr19 33793389 33793389 G T rs557100333 CEBPA Synonymous SNV R13R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.304 279061 chr3 133337190 133337190 C T TOPBP1 Synonymous SNV E1148E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.65 279062 chr19 35505254 35505254 A G GRAMD1A Synonymous SNV T337T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.101 279063 chr3 133341961 133341961 C T rs759647107 TOPBP1 Nonsynonymous SNV G1046E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.946 279064 chr13 28009969 28009969 G - MTIF3 P227Hfs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 279065 chr3 139076713 139076713 C T rs143708326 COPB2 Nonsynonymous SNV D905N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 279066 chr3 148765942 148765942 T C HLTF Nonsynonymous SNV I588V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 279067 chr3 151012986 151012986 G A rs146615024 GPR87 Synonymous SNV H16H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.544 279068 chr7 100807886 100807886 C T rs200936154 VGF Nonsynonymous SNV R80Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 279069 chr13 46726933 46726933 C T rs140316594 LCP1 Nonsynonymous SNV E241K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 279070 chr3 180320779 180320779 T A rs140966140 TTC14 Nonsynonymous SNV S88T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 279071 chr13 73369638 73369638 A G rs753690261 PIBF1 Synonymous SNV Q165Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.347 279072 chr3 183756701 183756701 C T rs761481633 HTR3D Nonsynonymous SNV R260C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 279073 chr3 184076842 184076842 T A rs773441419 CLCN2 Nonsynonymous SNV E47D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.447 279074 chr3 184076843 184076843 T A rs763306383 CLCN2 Nonsynonymous SNV E47V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.06 279075 chr3 184085941 184085941 A C POLR2H Nonsynonymous SNV T126P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 279076 chr19 42776000 42776000 C T rs778531867 CIC Nonsynonymous SNV P22L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 279077 chr7 130044470 130044470 C T CEP41 Synonymous SNV S103S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 279078 chr14 101347526 101347526 G A rs369840377 RTL1 Synonymous SNV F1200F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.699 279079 chr3 193132500 193132500 C T rs777360198 ATP13A4 Nonsynonymous SNV R961K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 279080 chr7 139661946 139661946 C T TBXAS1 Nonsynonymous SNV L289F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 279081 chr7 148990473 148990473 G A rs754639942 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 279082 chr14 102548135 102548135 C A HSP90AA1 Nonsynonymous SNV A705S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 279083 chr3 197238857 197238857 C T rs144840608 BDH1 Nonsynonymous SNV R314H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 279084 chr19 46265053 46265053 - TCCAGC BHMG1 S465_E466insSS 0.002 0 0 1 2 0 0.003 0 0 0 0 0 279085 chr4 265397 265397 G A rs61792071 ZNF732 Nonsynonymous SNV P417S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 279086 chr12 49445526 49445526 G T rs200088180 KMT2D Nonsynonymous SNV P647Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.622 279087 chr14 20876156 20876156 T C rs779790167 TEP1 Nonsynonymous SNV N148S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 279088 chr7 150839058 150839058 G A rs186900830 AGAP3 Synonymous SNV A295A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.84 279089 chr14 105208225 105208225 C T rs757835976 ADSS1 Synonymous SNV G73G 0.003 0 0 0 4 0 0 0 0 0 0 0 16.68 279090 chr7 1535185 1535185 C T rs143689649 INTS1 Synonymous SNV L572L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.064 279091 chr7 1542770 1542770 G A rs758256915 INTS1 Nonsynonymous SNV S39L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 279092 chr1 201291179 201291179 G A rs769288054 PKP1 Nonsynonymous SNV R474H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.2 279093 chr12 52214855 52214855 T C rs868808853 FIGNL2 Nonsynonymous SNV Q448R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.932 279094 chr4 2899949 2899949 G A rs371614186 ADD1 Synonymous SNV P260P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 279095 chr19 49132655 49132655 C G rs151205532 SPHK2 Nonsynonymous SNV D494E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 16.23 279096 chr14 23994496 23994496 A C rs771640262 ZFHX2 Nonsynonymous SNV F1552C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.91 279097 chr14 24046363 24046363 G T JPH4 Nonsynonymous SNV S100R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 279098 chr1 205272660 205272660 - CC NUAK2 Frameshift insertion D602Gfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 279099 chr4 8034384 8034384 C T rs748659152 ABLIM2 Synonymous SNV T114T 0.003 0 0 0 4 0 0 0 0 0 0 0 21.4 279100 chr4 8284186 8284186 G A rs144854375 HTRA3 Synonymous SNV P136P 0.003 0 0.003 0 4 0 0 1 0 0 0 0 3.417 279101 chr19 49967976 49967976 G A rs149196725 ALDH16A1 Nonsynonymous SNV A458T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 279102 chr19 50100747 50100747 C T PRR12 Nonsynonymous SNV A1052V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.918 279103 chr12 53452515 53452515 G A rs201194686 TNS2 Nonsynonymous SNV D447N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 279104 chr7 2740223 2740223 G A rs745552736 AMZ1 Synonymous SNV E46E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.361 279105 chr14 31575891 31575891 G T rs200409299 HECTD1 Nonsynonymous SNV P2396Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 279106 chr19 50931330 50931330 C T rs367646792 SPIB Synonymous SNV L85L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.61 279107 chr19 50955164 50955164 G T rs199625688 MYBPC2 Nonsynonymous SNV E551D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.823 279108 chr7 31146190 31146190 G A rs772017833 ADCYAP1R1 Synonymous SNV P412P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 279109 chr7 38457453 38457453 C T rs771596953 AMPH Nonsynonymous SNV R457Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 279110 chr2 242681982 242681982 C T rs781581192 D2HGDH Synonymous SNV S27S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.28 279111 chr2 242743404 242743404 C T rs777538456 GAL3ST2 Synonymous SNV R340R 0.001 0 0 0 1 0 0 0 0 0 0 0 11 279112 chr1 225239282 225239282 G A rs576201309 DNAH14 Nonsynonymous SNV E737K 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 279113 chr12 6085331 6085331 C T VWF Nonsynonymous SNV M2461I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 279114 chr14 33291875 33291875 G T rs777397623 AKAP6 Nonsynonymous SNV S1619I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 279115 chr4 53610701 53610701 G T rs374925212 ERVMER34-1 Stop gain Y329X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 279116 chr19 52918659 52918659 C T rs200341438 ZNF528 Nonsynonymous SNV A185V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.447 279117 chr14 68029204 68029204 C T rs377474422 PLEKHH1 Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.684 279118 chr12 6690861 6690861 A G rs148990354 CHD4 Synonymous SNV T1538T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 279119 chr7 4947038 4947038 C A MMD2 Nonsynonymous SNV V268L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 279120 chr4 71024268 71024268 A G rs116632053 PRR27 Nonsynonymous SNV N100S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 279121 chr4 71024552 71024552 C G rs143985138 PRR27 Nonsynonymous SNV P195A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 279122 chr14 73727963 73727963 G A rs145250622 PAPLN Nonsynonymous SNV G736S 0.003 0 0 0 3 0 0 0 0 0 0 0 26.4 279123 chr4 71275631 71275631 - C rs573505950 OPRPN Frameshift insertion A198Rfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 279124 chr14 74413022 74413022 C A rs761213344 FAM161B Nonsynonymous SNV G114V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 279125 chr4 76797565 76797565 C G rs142757298 PPEF2 Nonsynonymous SNV E399Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 279126 chr12 78511843 78511843 G A rs200565461 NAV3 Nonsynonymous SNV E936K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 279127 chr19 54755918 54755918 C G rs76522818 LILRB5 Nonsynonymous SNV R443P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.2 279128 chr14 75330185 75330185 G T rs774572009 PROX2 Nonsynonymous SNV A118D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 279129 chr4 87672235 87672235 G T rs115231754 PTPN13 Nonsynonymous SNV D1042Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.4 279130 chr7 90042001 90042001 G A rs200372770 CLDN12 Nonsynonymous SNV R4Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 279131 chr7 91792824 91792824 A G LRRD1 Nonsynonymous SNV C565R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 279132 chr7 94041412 94041412 C T rs139726213 COL1A2 Synonymous SNV P461P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.201 279133 chr14 60464380 60464380 C T LRRC9 Nonsynonymous SNV L740F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 279134 chr14 60951790 60951790 C T rs142135991 C14orf39 Nonsynonymous SNV D3N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.8 279135 chr4 104030087 104030087 T G rs145048632 CENPE Nonsynonymous SNV E2507D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 279136 chr4 106156704 106156704 C G rs756460904 TET2 Nonsynonymous SNV N535K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.636 279137 chr13 107220106 107220106 C T rs369932608 ARGLU1 Synonymous SNV S54S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.3 279138 chr8 10555254 10555254 G A rs929882985 C8orf74 Synonymous SNV L129L 0 0 0.007 0 0 0 0 2 0 0 0 0 7.632 279139 chr14 69521316 69521316 G C rs145094673 DCAF5 Nonsynonymous SNV T695S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 279140 chr14 72175996 72175996 A G SIPA1L1 Nonsynonymous SNV S1275G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 279141 chr14 95932292 95932292 G A rs149765715 SYNE3 Synonymous SNV Y201Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 279142 chr13 111315848 111315848 C T rs760461507 CARS2 Nonsynonymous SNV G313S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.9 279143 chr3 47288945 47288945 T C rs754651653 KIF9 Nonsynonymous SNV Y384C 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.9 279144 chr3 48612528 48612528 G A COL7A1 Nonsynonymous SNV T2083I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.349 279145 chr4 141403564 141403564 T A rs769536684 MGAT4D Nonsynonymous SNV E57V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.39 279146 chr3 48720421 48720421 C T NCKIPSD Nonsynonymous SNV A66T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 279147 chr4 144616658 144616658 C T rs975779555 FREM3 Nonsynonymous SNV R1724Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 279148 chr8 128098663 128098671 CAGCAGCTG - rs139756632 PRNCR1 0 0 0.003 0 0 0 0 1 0 0 0 0 279149 chr8 12950310 12950310 T A rs146051142 DLC1 Nonsynonymous SNV Q673L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 21.2 279150 chr4 155484174 155484174 A G rs6053 FGB Nonsynonymous SNV K2E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.6 279151 chr15 40278019 40278019 A T rs759761201 EIF2AK4 Nonsynonymous SNV N778I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.237 279152 chr15 27216691 27216691 G A rs28399525 GABRG3 Synonymous SNV P3P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 279153 chr15 41030187 41030187 A G RMDN3 Synonymous SNV F367F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.803 279154 chr4 175897327 175897327 C T rs368428894 ADAM29 Synonymous SNV N217N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 279155 chr15 41823392 41823392 A G rs747350048 RPAP1 Synonymous SNV L258L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.593 279156 chr15 44862790 44862790 C T rs200283964 SPG11 Nonsynonymous SNV R2024Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.7 279157 chr13 72440443 72440443 - CTG DACH1 S163_C164insS 0 0 0 1 0 0 0.003 0 0 0 0 0 279158 chr13 78173517 78173517 A T rs769179225 SCEL Nonsynonymous SNV E262V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 279159 chr20 18377172 18377172 G A rs902525079 DZANK1 Nonsynonymous SNV H352Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 279160 chr8 145739339 145739339 G A rs749542193 RECQL4 Synonymous SNV S677S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.27 279161 chr14 100615572 100615572 C T rs745581789 DEGS2 Synonymous SNV E186E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.95 279162 chr20 25261608 25261608 C T rs201126775 PYGB Synonymous SNV G421G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 279163 chr15 59186332 59186332 T C SLTM Nonsynonymous SNV R462G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.81 279164 chr5 24593481 24593481 C A rs777678940 CDH10 Nonsynonymous SNV R40L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.29 279165 chr8 21977866 21977866 G C HR Nonsynonymous SNV S922C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 279166 chr15 41227096 41227096 G T rs771260384 DLL4 Nonsynonymous SNV D341Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 279167 chr15 41797720 41797720 C T rs533130590 LTK Nonsynonymous SNV R439H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 279168 chr8 28304782 28304782 T C rs767203849 FBXO16 Nonsynonymous SNV K238R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 279169 chr8 29039518 29039518 C T rs745585309 KIF13B Nonsynonymous SNV R168H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 279170 chr8 3200906 3200906 G T rs369988550 CSMD1 Nonsynonymous SNV L1181M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.462 279171 chr2 74884742 74884742 C G rs200871087 SEMA4F Synonymous SNV G116G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.87 279172 chr5 59893628 59893628 T C rs757447437 DEPDC1B Synonymous SNV L452L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.75 279173 chr15 43499581 43499581 C G EPB42 Synonymous SNV L408L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.301 279174 chr15 84651068 84651068 G A rs139222116 ADAMTSL3 Synonymous SNV P896P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 279175 chr15 78921565 78921565 G A rs375172518 CHRNB4 Nonsynonymous SNV P361L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 279176 chr5 73236723 73236723 G A rs887814001 ARHGEF28 Nonsynonymous SNV R1355H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 279177 chr14 24108387 24108387 G A DHRS2 0 0 0 1 0 0 0.003 0 0 0 0 0 19.77 279178 chr14 24114475 24114475 C T rs762721328 DHRS2 Synonymous SNV G289G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 279179 chr14 24586496 24586496 G A rs199590153 DCAF11 Nonsynonymous SNV R102Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.61 279180 chr15 85383265 85383265 A T rs753047190 ALPK3 Nonsynonymous SNV E252V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 279181 chr15 57921918 57921918 A G rs761954649 GCOM1, MYZAP Nonsynonymous SNV T182A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 279182 chr8 94934398 94934398 G A rs761727112 PDP1 Synonymous SNV S37S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 279183 chr5 90012505 90012505 T C ADGRV1 Nonsynonymous SNV S3136P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 279184 chr15 63335055 63335055 G A rs397516365 TPM1 Synonymous SNV Q9Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.51 279185 chr15 91016175 91016175 T G rs748152974 IQGAP1 Nonsynonymous SNV V761G 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 279186 chr5 102894627 102894627 A G rs139871589 NUDT12 Nonsynonymous SNV L232P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 279187 chr16 11645607 11645607 G A rs757148689 LITAF Nonsynonymous SNV S144F 0 0.003 0 0 0 1 0 0 0 0 0 0 2.567 279188 chr9 113562861 113562861 G A rs138418494 MUSK Nonsynonymous SNV E315K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.1 279189 chr5 118970156 118970156 C T rs766155255 FAM170A Nonsynonymous SNV T191I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 279190 chr5 127522188 127522188 G A SLC12A2 Nonsynonymous SNV M1152I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.87 279191 chr16 1396909 1396909 C A BAIAP3 Nonsynonymous SNV R866S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.955 279192 chr5 124036771 124036771 A C rs368826695 ZNF608 Synonymous SNV L366L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.142 279193 chr16 1451641 1451641 C A UNKL Nonsynonymous SNV D176Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 279194 chr16 1451642 1451642 C A UNKL Synonymous SNV P175P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.23 279195 chr14 60585103 60585103 G T rs192298073 PCNX4 Synonymous SNV V311V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.746 279196 chr16 1492472 1492472 C T CCDC154 Nonsynonymous SNV G204S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.09 279197 chr5 131729936 131729936 C G rs780575908 SLC22A5 Nonsynonymous SNV P549R 0 0.003 0 0 0 1 0 0 0 0 0 0 22 279198 chr9 117139137 117139137 G A rs141374728 AKNA Nonsynonymous SNV P198L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 279199 chr5 131995150 131995150 T C rs148077750 IL13 Nonsynonymous SNV L72P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 279200 chr16 20335475 20335475 G A GP2 Synonymous SNV Y66Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.214 279201 chr9 117846529 117846529 T G TNC Nonsynonymous SNV E697A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 279202 chr9 119160753 119160753 G T PAPPA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.413 279203 chr15 83544085 83544085 G A rs200280749 HOMER2 Synonymous SNV A78A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.53 279204 chr9 124230188 124230188 C T rs201111707 GGTA1P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 279205 chr5 140183128 140183128 C A rs782432564 PCDHA3 Nonsynonymous SNV S782R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 279206 chr21 45507772 45507772 A G rs772573780 TRAPPC10 Nonsynonymous SNV Q444R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.453 279207 chr16 29993185 29993185 A C TAOK2 Nonsynonymous SNV E252A 0.002 0 0 0 2 0 0 0 0 0 0 0 20.4 279208 chr5 140588918 140588918 C T rs147039082 PCDHB12 Nonsynonymous SNV P147S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.873 279209 chr5 140736632 140736632 A C PCDHGA4 Nonsynonymous SNV H653P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 279210 chr9 130687485 130687485 C T rs141670007 PIP5KL1 Nonsynonymous SNV R70Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 279211 chr14 81297630 81297630 G A rs199544885 CEP128 Nonsynonymous SNV R356W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 279212 chr9 131860536 131860536 G C CRAT Synonymous SNV A440A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.983 279213 chr16 30544009 30544009 C T rs1054303612 ZNF747 Synonymous SNV P269P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.9 279214 chr15 96877697 96877697 C G rs886657413 NR2F2 Nonsynonymous SNV P146A 0 0 0 1 0 0 0.003 0 0 0 0 0 24 279215 chr14 92439135 92439135 G T rs371689436 TRIP11 Nonsynonymous SNV S1881Y 0 0 0 1 0 0 0.003 0 0 0 0 0 29 279216 chr16 11785862 11785862 C T rs745928850 TXNDC11 Nonsynonymous SNV R181Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.38 279217 chr4 8271794 8271794 G C rs201802141 HTRA3 Synonymous SNV R33R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.483 279218 chr16 2818165 2818167 TCA - rs770799255 SRRM2 S2556del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 279219 chr16 53860209 53860209 A T FTO Nonsynonymous SNV N160I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.31 279220 chr16 1825644 1825644 C G rs200958056 EME2 Nonsynonymous SNV H246Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.82 279221 chr4 38138939 38138939 G A rs758678721 TBC1D1 Nonsynonymous SNV E176K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 279222 chr22 29099495 29099495 T G rs587780190 CHEK2 Nonsynonymous SNV E235D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.1 279223 chr16 21042558 21042558 C A DNAH3 Nonsynonymous SNV A1704S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 279224 chr5 176942792 176942792 C T rs199697328 DDX41 Nonsynonymous SNV M29I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.5 279225 chr16 58149256 58149256 C T rs200960487 CFAP20 Nonsynonymous SNV G128S 0 0.003 0 0 0 1 0 0 0 0 0 0 35 279226 chr5 177019601 177019601 C T rs200207667 TMED9 Synonymous SNV D70D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 279227 chr15 38233381 38233381 C A rs74738519 TMCO5A Nonsynonymous SNV A140E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 279228 chr15 38233383 38233383 T C rs79150042 TMCO5A Nonsynonymous SNV C141R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.37 279229 chr15 38239858 38239858 G A rs78542351 TMCO5A Nonsynonymous SNV G210D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 279230 chr16 67325721 67325721 C T rs377131607 KCTD19 Synonymous SNV Q746Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.84 279231 chr9 34564642 34564642 G A rs775170561 CNTFR Nonsynonymous SNV R92C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 279232 chr9 35077067 35077067 G A FANCG Synonymous SNV D226D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 279233 chr9 35841261 35841261 A G TMEM8B Nonsynonymous SNV Y346C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 279234 chr16 4801658 4801658 A T ZNF500 Synonymous SNV G433G 0.003 0 0 1 4 0 0.003 0 0 0 0 0 4.525 279235 chr5 180627023 180627023 A G rs141070470 TRIM7 Nonsynonymous SNV F44S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 279236 chr15 41861126 41861126 C T rs199641637 TYRO3 Synonymous SNV P341P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.89 279237 chr16 29818769 29818769 C T rs764656695 MAZ Synonymous SNV P221P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.56 279238 chr16 29899961 29899961 G A rs751064395 SEZ6L2 Synonymous SNV T199T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 279239 chr6 5004105 5004105 C G rs370544821 LYRM4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.49 279240 chr6 7230609 7230609 C G RREB1 Synonymous SNV G759G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 279241 chr22 38229704 38229704 C T rs949727021 ANKRD54 Synonymous SNV T113T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.37 279242 chr16 31391128 31391128 G A rs201888111 ITGAX Synonymous SNV V973V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 279243 chr6 13711382 13711382 G A rs773022063 RANBP9 Nonsynonymous SNV P119L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.56 279244 chr16 88495601 88495601 A T ZNF469 Nonsynonymous SNV T575S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 279245 chr6 24520683 24520683 G A rs768719885 ALDH5A1 Nonsynonymous SNV G261S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 279246 chr15 48057209 48057209 C T SEMA6D Synonymous SNV N461N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.24 279247 chr6 25826714 25826714 G T SLC17A1 Nonsynonymous SNV T61K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 279248 chr6 26234526 26234526 C T rs555903274 H1-3 Synonymous SNV K212K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 279249 chr6 26017379 26017379 C T H1-1 Synonymous SNV A194A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.72 279250 chr16 67290521 67290521 C T SLC9A5 Nonsynonymous SNV S253F 0.003 0 0 1 3 0 0.003 0 0 0 0 0 25.7 279251 chr16 88873811 88873811 G A rs948767391 CDT1 Synonymous SNV V466V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.774 279252 chr9 96055261 96055261 G A WNK2 Synonymous SNV K1838K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.189 279253 chr9 96055263 96055263 A T WNK2 Nonsynonymous SNV K1839M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 279254 chr9 96080702 96080702 C T rs200220940 C9orf129 Nonsynonymous SNV R190H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.085 279255 chr6 26466302 26466302 C T rs770522973 BTN2A1 Nonsynonymous SNV T262I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.91 279256 chr6 35087970 35087970 T C rs545871773 TCP11 Nonsynonymous SNV I220V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 279257 chr15 64066900 64066900 C T rs781379594 HERC1 Nonsynonymous SNV R308H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 279258 chr15 66777377 66777377 G T MAP2K1 Nonsynonymous SNV S248I 0 0 0 1 0 0 0.003 0 0 0 0 0 33 279259 chr6 39902061 39902061 G A rs746347427 MOCS1 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 279260 chr2 238280557 238280557 G A rs116505603 COL6A3 Nonsynonymous SNV T761M 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.13 279261 chrX 153995599 153995599 C G rs782546233 DKC1 Synonymous SNV L194L 0 0 0.007 0 0 0 0 2 0 0 1 0 12.62 279262 chrX 18959658 18959658 A G PHKA2 Nonsynonymous SNV S285P 0 0 0.007 0 0 0 0 2 0 0 1 0 23.3 279263 chr16 836069 836069 C T rs201218677 RPUSD1 Nonsynonymous SNV A145T 0.003 0 0 0 3 0 0 0 0 0 0 0 0.029 279264 chr6 43415446 43415446 G T rs771655318 ABCC10 Nonsynonymous SNV G1216W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 279265 chr16 9862945 9862945 A G GRIN2A Synonymous SNV G786G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.31 279266 chr15 75644465 75644465 C T rs555855556 NEIL1 Stop gain R236X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 279267 chr2 241865210 241865210 C T rs149180393 CROCC2 Synonymous SNV D186D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 11.65 279268 chrX 49851138 49851138 G A rs782758154 CLCN5 Nonsynonymous SNV V320M 0 0 0.007 0 0 0 0 2 0 0 1 0 21.7 279269 chr16 72130189 72130189 C T rs372776663 DHX38 Nonsynonymous SNV R45C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 279270 chrX 65824297 65824297 C T rs768322129 EDA2R Synonymous SNV P106P 0 0 0.007 0 0 0 0 2 0 0 1 0 11.89 279271 chrX 70320587 70320587 C T rs766049304 FOXO4 Synonymous SNV N169N 0 0 0.007 0 0 0 0 2 0 0 1 0 9.548 279272 chr17 1437427 1437427 C T rs200738801 PITPNA Nonsynonymous SNV R245K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 279273 chr2 242814535 242814535 C G rs146481716 RTP5 Synonymous SNV L276L 0.001 0 0 3 1 0 0.008 0 0 0 0 0 7.211 279274 chr6 51930831 51930831 T C PKHD1 Nonsynonymous SNV T275A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 279275 chr3 9918808 9918808 G C CIDEC Nonsynonymous SNV A50G 0 0 0 3 0 0 0.008 0 0 0 0 0 17.46 279276 chr17 17943053 17943053 C T GID4 Nonsynonymous SNV P92L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 279277 chr6 56479202 56479202 T C DST Synonymous SNV T1133T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.005 279278 chr6 56480692 56480702 TGATTACTAAT - DST E2521Dfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 279279 chr17 18022637 18022637 C A rs755031136 MYO15A Nonsynonymous SNV P175T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 279280 chr6 74124325 74124325 A G DDX43 Nonsynonymous SNV H554R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.49 279281 chr10 102675797 102675797 A C rs780273565 SLF2 Nonsynonymous SNV Q61P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 279282 chr17 18166534 18166534 G C MIEF2 Nonsynonymous SNV L94F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 279283 chr6 75804834 75804834 T C rs185171880 COL12A1 Nonsynonymous SNV H1716R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.77 279284 chr16 90075727 90075727 G T rs758725253 DBNDD1 Nonsynonymous SNV P48Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 279285 chr16 90075804 90075804 C T rs755527079 DBNDD1 Synonymous SNV A22A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 279286 chr10 106025865 106025865 C A GSTO1 Synonymous SNV T130T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 279287 chr10 112039826 112039826 G A rs140539151 MXI1 Nonsynonymous SNV R123H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 24.2 279288 chr16 85701832 85701832 C T rs566384600 GSE1 Nonsynonymous SNV R969C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 279289 chr10 115537757 115537759 AAC - rs144623052 MIR4483 0 0 0.007 0 0 0 0 2 0 0 0 0 279290 chr17 1631781 1631781 C T rs148375698 WDR81 Synonymous SNV T1176T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.006 279291 chrY 15017691 15017691 A G DDX3Y Star tloss M1? 0 0 0 2 0 0 0.005 0 0 0 0 1 9.914 279292 chr6 106555116 106555116 G A rs139718143 PRDM1 Nonsynonymous SNV V611M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 not provided 6.225 279293 chr16 11009471 11009471 G A rs546498273 CIITA Nonsynonymous SNV R394Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.39 279294 chr1 1219423 1219423 A G SCNN1D Synonymous SNV A139A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.459 279295 chr17 30325979 30325979 G A rs140801412 SUZ12 Nonsynonymous SNV S703N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.357 279296 chr6 109767927 109767927 T G rs749073327 MICAL1 Nonsynonymous SNV E673A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.725 279297 chr6 116837023 116837023 G A CALHM5 Synonymous SNV E267E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 279298 chr17 34344904 34344904 G A rs200802399 CCL23 Nonsynonymous SNV L11F 0 0.005 0 0 0 2 0 0 0 0 0 0 10.93 279299 chr6 123539761 123539761 C T TRDN Synonymous SNV K725K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.694 279300 chr1 6534643 6534643 C T rs141032388 PLEKHG5 Nonsynonymous SNV V103M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 279301 chr16 19663326 19663326 T C rs7184272 VPS35L Nonsynonymous SNV I619T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 27.9 279302 chr6 136904777 136904777 T C MAP3K5 Synonymous SNV T1109T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.222 279303 chr6 142737169 142737169 G A rs373361637 ADGRG6 Nonsynonymous SNV R941Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 279304 chr6 136693712 136693712 G A rs914123425 MAP7 Nonsynonymous SNV S174L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.63 279305 chr6 144811252 144811252 T C rs185090144 UTRN Synonymous SNV L1394L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.601 279306 chr10 27355472 27355472 T C rs555822164 ANKRD26 Nonsynonymous SNV M405V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.364 279307 chr17 38978631 38978631 G T KRT10 Synonymous SNV G69G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.307 279308 chr1 12322128 12322128 G A rs987469841 VPS13D Nonsynonymous SNV E529K 0.003 0 0 0 4 0 0 0 0 0 0 0 35 279309 chr17 18148549 18148549 C T rs201912251 FLII Nonsynonymous SNV R1183Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 279310 chr10 3161018 3161018 G A PFKP Nonsynonymous SNV R280H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 279311 chr10 402435 402435 G A rs573256738 DIP2C Synonymous SNV L972L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 279312 chr3 50147887 50147887 A G rs762537684 RBM5 Nonsynonymous SNV T452A 0 0 0 2 0 0 0.005 0 0 0 0 0 18.46 279313 chr16 30012116 30012116 G A rs769781982 INO80E Synonymous SNV T81T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.42 279314 chr6 155498007 155498007 G A rs35964434 TIAM2 Nonsynonymous SNV A807T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 279315 chr17 34147191 34147191 G T TAF15 Synonymous SNV T41T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.278 279316 chr16 31090686 31090686 C T rs748840371 ZNF646 Nonsynonymous SNV S1014F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.99 279317 chr6 159181673 159181673 C T rs184979069 SYTL3 Nonsynonymous SNV A231V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.738 279318 chr10 48370693 48370693 - C rs782420326 ZNF488 Frameshift insertion R55Pfs*5 0 0 0.007 0 0 0 0 2 0 0 0 0 279319 chr10 50311875 50311875 G T rs970679501 VSTM4 Nonsynonymous SNV A163D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.273 279320 chr17 40832390 40832390 C G rs913067108 CCR10 Nonsynonymous SNV L90F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.17 279321 chr17 27381582 27381582 G A rs151270250 PIPOX Nonsynonymous SNV C227Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 279322 chr3 60522648 60522648 A C FHIT Nonsynonymous SNV F16L 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 279323 chr17 29325845 29325845 A G rs201499655 RNF135 Nonsynonymous SNV K312R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.411 279324 chr10 5691048 5691048 C G rs116145945 ASB13 Nonsynonymous SNV R134S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 279325 chr17 31098168 31098168 T C rs140320920 MYO1D Nonsynonymous SNV Y230C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.5 279326 chr6 170871040 170871040 - ACAG TBP Frameshift insertion Q53Tfs*106 0.001 0 0 0 1 0 0 0 0 0 0 0 279327 chr10 5969429 5969429 G A rs61753278 FBH1 Synonymous SNV L918L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 279328 chr10 6002352 6002352 T A rs370693284 IL15RA Synonymous SNV A118A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.721 279329 chr16 53674972 53674972 G A rs761869488 RPGRIP1L Synonymous SNV F977F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 279330 chr10 64415307 64415307 G A rs144645122 ZNF365 Nonsynonymous SNV V103I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.245 279331 chr10 71128330 71128330 C T rs145719365 HK1 Synonymous SNV S178S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.06 279332 chr1 32829261 32829261 A G rs35508255 TSSK3 Nonsynonymous SNV I71V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 279333 chr7 15652024 15652024 A G rs759918523 MEOX2 Synonymous SNV H301H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.018 279334 chr1 33955178 33955178 G A rs34446695 ZSCAN20 Nonsynonymous SNV D248N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.014 279335 chr10 74658651 74658651 C T rs754816271 OIT3 Synonymous SNV D97D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 279336 chr1 34015851 34015851 C T rs114857735 CSMD2 Nonsynonymous SNV R2804H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 279337 chr7 7472140 7472140 C T rs115295026 COL28A1 Synonymous SNV P654P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.58 279338 chr17 42249568 42249568 C T ASB16 Synonymous SNV A152A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 279339 chr7 24911678 24911678 T C OSBPL3 Nonsynonymous SNV E36G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 279340 chr7 30963565 30963565 C A rs973535364 AQP1 Nonsynonymous SNV P305T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 279341 chr17 39464397 39464397 C T rs1003223704 KRTAP16-1 Nonsynonymous SNV R370Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.169 279342 chr17 62079162 62079162 C T rs776239014 PRR29 Synonymous SNV L180L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.701 279343 chr7 38433763 38433763 C A rs73348825 AMPH Nonsynonymous SNV A442S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.38 279344 chr17 63533542 63533542 G A rs761539571 AXIN2 Nonsynonymous SNV R538W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.2 279345 chr17 39680437 39680437 G A rs778490653 KRT19 Synonymous SNV T302T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.819 279346 chr1 45798274 45798274 C G rs1064793779 MUTYH Nonsynonymous SNV G78A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.02 279347 chr16 81990304 81990304 G C rs761797236 PLCG2 Nonsynonymous SNV S1192T 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.56 279348 chr7 43680219 43680219 T - COA1 E87Rfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 279349 chr7 43680221 43680228 ATTTGGAT - COA1 S84Rfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 279350 chr7 43680231 43680231 A - COA1 G83Dfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 279351 chr7 44180618 44180618 C T rs760803234 MYL7 Nonsynonymous SNV R20H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 279352 chr1 46763256 46763256 C T rs865798236 LRRC41 Synonymous SNV K112K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 279353 chr17 66426250 66426250 C T rs924328806 WIPI1 Nonsynonymous SNV M202I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 279354 chr17 41107920 41107920 G A rs201941576 AARSD1, PTGES3L-AARSD1 Nonsynonymous SNV R245W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 279355 chr17 41131583 41131583 G C PTGES3L, PTGES3L-AARSD1 Nonsynonymous SNV H79D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.49 279356 chr17 66936962 66936962 T C ABCA8 Nonsynonymous SNV T80A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.102 279357 chr16 84494470 84494470 C G rs1008013927 ATP2C2-AS1 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.028 279358 chr7 43546826 43546826 A G rs962394932 HECW1 Nonsynonymous SNV K1207R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 279359 chr17 41925962 41925962 G C rs139674731 CD300LG Nonsynonymous SNV G27A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 279360 chr17 55951070 55951070 G T rs199516462 CUEDC1 Nonsynonymous SNV A158E 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.008 279361 chr17 6941960 6941960 G T rs184174774 SLC16A13 Nonsynonymous SNV G278V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.33 279362 chr1 53571432 53571432 G T rs369559497 SLC1A7 Nonsynonymous SNV A77D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 279363 chr7 45124794 45124794 G T NACAD Nonsynonymous SNV L329I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.23 279364 chr7 45217030 45217030 G A rs774454056 RAMP3 Nonsynonymous SNV E61K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 279365 chr17 62226449 62226449 T C TEX2 Synonymous SNV K1088K 0.002 0 0 0 2 0 0 0 0 0 0 0 8.272 279366 chr17 72578429 72578429 T C rs202139169 CD300LD Nonsynonymous SNV E134G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 279367 chr7 73013995 73013995 G A rs146487355 MLXIPL Nonsynonymous SNV P311L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 279368 chr1 59147851 59147851 G A rs201666716 MYSM1 Nonsynonymous SNV L289F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.534 279369 chr7 75610473 75610473 G A POR Synonymous SNV L208L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.281 279370 chr17 7320539 7320539 C T rs748566777 NLGN2 Synonymous SNV P643P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.27 279371 chr11 108122682 108122682 A G rs1064795170 ATM Nonsynonymous SNV I576V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.7 279372 chr7 78130945 78130945 G T MAGI2 Nonsynonymous SNV P305H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 279373 chr3 155571417 155571417 G A rs141818342 SLC33A1 Nonsynonymous SNV L124F 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 24 279374 chr7 75613102 75613102 G A POR Nonsynonymous SNV A332T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.555 279375 chr7 83098575 83098575 A T SEMA3E Nonsynonymous SNV M47K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 279376 chr3 160156930 160156930 A G rs139657715 TRIM59 Synonymous SNV Y14Y 0 0 0 3 0 0 0.008 0 0 0 0 0 0.141 279377 chr7 81641553 81641553 A G rs37133 CACNA2D1 Synonymous SNV L427L 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign 6.278 279378 chr17 53488702 53488702 G A MMD Nonsynonymous SNV A62V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 279379 chr17 15406230 15406230 C T rs987597187 TVP23C Nonsynonymous SNV R260K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.48 279380 chr7 94833022 94833024 AAT - rs771879691 PPP1R9A N648del 0.001 0 0 0 1 0 0 0 0 0 0 0 279381 chr7 95705439 95705439 A C DYNC1I1 Nonsynonymous SNV H507P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 279382 chr17 76198636 76198636 G A rs144866146 AFMID Nonsynonymous SNV G71S 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 20.6 279383 chr7 94024395 94024395 T C rs200278401 COL1A2 Nonsynonymous SNV C18R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.55 279384 chr7 100485396 100485396 G A rs199528372 SRRT Nonsynonymous SNV A747T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.04 279385 chr7 98254373 98254373 A T NPTX2 Synonymous SNV S261S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 279386 chr11 120742583 120742583 G A rs140653635 LOC101929227 0 0 0.007 0 0 0 0 2 0 0 0 0 3.215 279387 chr11 120776154 120776154 C T rs148259218 GRIK4 Synonymous SNV P476P 0 0 0.007 0 0 0 0 2 0 0 0 0 16.12 279388 chr11 120957605 120957605 A G rs144345151 TBCEL Nonsynonymous SNV I359V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.494 279389 chr17 2076084 2076084 C T rs191617249 SMG6 Synonymous SNV E167E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.378 279390 chr7 100550190 100550190 C T rs763103230 MUC3A Synonymous SNV S257S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 279391 chr17 79653417 79653417 G A rs1020559515 HGS Synonymous SNV E66E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.76 279392 chr17 79954314 79954314 C T rs751288850 ASPSCR1 Synonymous SNV Y98Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.85 279393 chr17 79973230 79973230 C T rs554183485 ASPSCR1 Nonsynonymous SNV R545W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 279394 chr1 109446827 109446827 A G GPSM2 Synonymous SNV T381T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.28 279395 chr18 44774749 44774757 GCGGCCGCG - rs1007641052 SKOR2 A267_A269del 0.001 0 0 0 1 0 0 0 0 0 0 0 279396 chr17 27417568 27417568 C T rs755918955 MYO18A Synonymous SNV K1753K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.4 279397 chr17 72560211 72560211 G A rs763802798 CD300H, LOC100130520 Nonsynonymous SNV P89S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.296 279398 chr7 103292236 103292236 A G rs768603374 RELN Synonymous SNV S588S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.107 279399 chr1 117122251 117122251 G A rs377755301 IGSF3 Synonymous SNV L1033L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 279400 chr11 16847842 16847842 G A rs531712172 PLEKHA7 Nonsynonymous SNV R390W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 279401 chr18 204572 204572 A G USP14 Synonymous SNV K313K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.263 279402 chr18 20715951 20715951 C T rs375018617 CABLES1 Synonymous SNV D75D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.3 279403 chr7 115580811 115580811 T C rs577607997 TFEC Nonsynonymous SNV I213V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.089 279404 chr18 23865868 23865868 A G rs75973076 TAF4B Nonsynonymous SNV Q332R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 25.3 279405 chr7 103341382 103341382 C T rs200289289 RELN Nonsynonymous SNV D293N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22 279406 chr18 7037639 7037639 C T rs16951079 LAMA1 Nonsynonymous SNV V559I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.971 279407 chr17 38552578 38552578 T G rs369925563 TOP2A Nonsynonymous SNV E1226A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 279408 chr4 6303248 6303248 G A rs1805069 WFS1 Nonsynonymous SNV G576S 0.001 0 0 3 1 0 0.008 0 0 0 0 0 Benign/Likely benign 27.3 279409 chr17 9545078 9545078 G C rs140641061 CFAP52 Nonsynonymous SNV R470T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.4 279410 chr17 962015 962015 G A ABR Synonymous SNV I207I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 279411 chr7 137172418 137172418 G T rs375805730 DGKI Nonsynonymous SNV L756I 0.001 0 0 0 1 0 0 0 0 0 0 0 13 279412 chr7 138356764 138356764 C T rs371114667 SVOPL Synonymous SNV T91T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 279413 chr7 123302302 123302302 T C rs75417639 LMOD2 Nonsynonymous SNV I221T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 279414 chr18 44139493 44139493 G T LOXHD1 Nonsynonymous SNV T1045N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.84 279415 chr18 12691467 12691467 T C CEP76 Nonsynonymous SNV K200R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.63 279416 chr7 140158947 140158947 T G rs767131876 MKRN1 Nonsynonymous SNV K211Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 279417 chr11 32456783 32456783 C T rs762288656 WT1 Nonsynonymous SNV G42S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.85 279418 chr18 48723074 48723074 C A MEX3C Nonsynonymous SNV G206V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 279419 chr7 130418179 130418179 C A KLF14 Nonsynonymous SNV D228Y 0 0.003 0 0 0 1 0 0 0 0 0 0 31 279420 chr7 141921603 141921603 C T MGAM2 Nonsynonymous SNV T2431M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.237 279421 chr7 142583340 142583340 C T rs574517185 TRPV6 Synonymous SNV G14G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 279422 chr11 35211609 35211609 A G rs368370454 CD44 Nonsynonymous SNV T222A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 279423 chr11 3794964 3794964 T C NUP98 Synonymous SNV P167P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.052 279424 chr7 139636039 139636039 G A rs374952408 TBXAS1 Nonsynonymous SNV R67H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 279425 chr7 139741459 139741459 C T rs751888515 PARP12 Synonymous SNV Q389Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.84 279426 chr18 60646559 60646559 G A PHLPP1 Synonymous SNV E1683E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.501 279427 chr4 30723468 30723468 A G rs368664200 PCDH7 Nonsynonymous SNV T142A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.22 279428 chr17 4086763 4086763 T C rs753545361 ANKFY1 Nonsynonymous SNV M670V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.7 279429 chr11 46772770 46772770 G A rs111277483 CKAP5 Synonymous SNV N1726N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 279430 chr1 156933366 156933366 C G rs767126561 ARHGEF11 Nonsynonymous SNV K288N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 279431 chr17 8161134 8161134 T G rs746500115 PFAS Nonsynonymous SNV L362R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 279432 chr17 8791612 8791612 G A rs750803113 PIK3R5 Nonsynonymous SNV R112C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 279433 chr7 150655199 150655199 G A rs915031143 KCNH2 Synonymous SNV I288I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.07 279434 chr7 150934957 150934957 C T CHPF2 Synonymous SNV A503A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.355 279435 chr18 10787177 10787177 G A rs576189578 PIEZO2 Synonymous SNV H725H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 3.601 279436 chr18 10979651 10979651 C T rs111734604 PIEZO2 Synonymous SNV T56T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.2 279437 chr17 4578633 4578633 G A rs540770637 PELP1 Nonsynonymous SNV R365W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 25.9 279438 chr18 77895204 77895204 G A rs145421964 ADNP2 Synonymous SNV P636P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.16 279439 chr6 83892642 83892642 C T rs374155024 PGM3 Synonymous SNV T90T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 279440 chr6 84061816 84061816 T A rs73749795 ME1 Synonymous SNV S135S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.266 279441 chr18 32949253 32949253 A T rs192743555 ZNF396 Nonsynonymous SNV C312S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.84 279442 chr8 1496828 1496828 A G rs758493258 DLGAP2 Nonsynonymous SNV N70S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 279443 chr8 2040209 2040209 C T rs200806191 MYOM2 Stop gain R622X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 36 279444 chr18 61390262 61390262 G - rs780522612 SERPINB11 E95Sfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 279445 chr18 61390263 61390263 A T rs768917067 SERPINB11 Nonsynonymous SNV E95V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 279446 chr11 533586 533586 G A rs730880462 HRAS Nonsynonymous SNV S106L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 279447 chr11 5373350 5373350 G T rs762785080 OR51B6 Nonsynonymous SNV V205F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.194 279448 chr8 11643515 11643515 T A NEIL2 Nonsynonymous SNV H183Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 279449 chr4 77247013 77247013 T C CCDC158 Nonsynonymous SNV K1052E 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.8 279450 chr11 5530503 5530503 G A rs199721456 UBQLN3 Nonsynonymous SNV R96C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 279451 chr18 55364908 55364908 G A rs975100520 ATP8B1 Synonymous SNV L164L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.53 279452 chr19 18183007 18183007 A G rs374776013 IL12RB1 Synonymous SNV A312A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.453 279453 chr19 18879597 18879597 C G CRTC1 Nonsynonymous SNV I438M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 279454 chr4 88236700 88236700 C T rs373819787 HSD17B13 Nonsynonymous SNV V132I 0.001 0 0.003 3 1 0 0.008 1 0 0 0 0 22.2 279455 chr19 19609461 19609461 C T rs565655196 GATAD2A Synonymous SNV S378S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 279456 chr18 60645816 60645816 G A rs745618348 PHLPP1 Nonsynonymous SNV A1436T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.111 279457 chr19 13220734 13220734 G A rs142446751 TRMT1 Synonymous SNV S106S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.444 279458 chr8 22428613 22428613 G A rs149043911 SORBS3 Nonsynonymous SNV R199H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.324 279459 chr19 20044979 20044979 C T rs567974697 ZNF93 Synonymous SNV A405A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 279460 chr19 20044985 20044985 G C ZNF93 Nonsynonymous SNV K407N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.338 279461 chr19 20044986 20044986 T C ZNF93 Nonsynonymous SNV Y408H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.731 279462 chr19 20044988 20044988 C G ZNF93 Stop gain Y408X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 279463 chr19 20044994 20044994 T A ZNF93 Synonymous SNV S410S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.014 279464 chr19 14083644 14083644 C T rs199688398 RFX1 Nonsynonymous SNV G409R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.37 279465 chr8 24813046 24813046 C A rs759524661 NEFL Synonymous SNV A328A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.05 279466 chr11 56237482 56237482 C G OR5M3 Nonsynonymous SNV L164F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 279467 chr8 27668477 27668477 T C rs116080983 PBK Nonsynonymous SNV E268G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 279468 chr8 26481807 26481807 G A rs371240205 DPYSL2 Synonymous SNV A259A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.884 279469 chr8 27880856 27880856 C G rs749037056 NUGGC Nonsynonymous SNV G790A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.109 279470 chr8 33455009 33455009 C A rs149681773 DUSP26 Nonsynonymous SNV A9S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.1 279471 chr8 38884237 38884237 T A rs768414253 ADAM9 Synonymous SNV A346A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.05 279472 chr8 41522353 41522353 G C rs755773784 ANK1 Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 279473 chr8 38003627 38003627 G A rs147138315 STAR Synonymous SNV H168H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.786 279474 chr8 38006180 38006180 G C rs550388651 STAR Nonsynonymous SNV R53G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 279475 chr8 55538826 55538826 T C rs772185171 RP1 Nonsynonymous SNV I795T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 279476 chr8 41577289 41577289 C T rs147608206 ANK1 Nonsynonymous SNV D333N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.8 279477 chr11 58478229 58478229 G A rs201398923 GLYAT Stop gain Q108X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 279478 chr11 59283296 59283296 G A rs754988502 OR4D9 Nonsynonymous SNV R304Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.748 279479 chr8 65493524 65493524 G A rs771344503 BHLHE22 Synonymous SNV S59S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 279480 chr19 17892324 17892324 A G rs199945608 FCHO1 Nonsynonymous SNV S552G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.093 279481 chr8 70744167 70744167 G A rs118016633 SLCO5A1 Nonsynonymous SNV P248S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 279482 chr19 18054511 18054511 A G rs199727961 CCDC124 Nonsynonymous SNV N220S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.5 279483 chr4 147215112 147215112 T C rs377670586 SLC10A7 Nonsynonymous SNV K218E 0.001 0 0 2 1 0 0.005 0 0 0 0 0 12.47 279484 chr4 151170827 151170827 C T rs563309336 DCLK2 Synonymous SNV S688S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 19 279485 chr8 87447882 87447882 T C rs376535570 WWP1 Synonymous SNV H566H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.14 279486 chr11 61897837 61897873 CGGGTGCTGGCTCCCATCCTGCCGGATAACTTCTCCA - INCENP V281Pfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 279487 chr8 98943592 98943592 G A rs200270504 MATN2 Nonsynonymous SNV R185Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 279488 chr17 7696357 7696357 G T DNAH2 Nonsynonymous SNV G2468V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 279489 chr8 100513918 100513918 G A rs150662496 VPS13B Nonsynonymous SNV D1292N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 279490 chr11 62521487 62521487 C T rs145527809 ZBTB3 Synonymous SNV K16K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.442 279491 chr11 62656037 62656037 C T SLC3A2 Synonymous SNV L488L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 279492 chr11 63487148 63487148 A G rs139271709 RTN3 Nonsynonymous SNV I280V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 279493 chr11 63885538 63885538 A G rs368223580 FLRT1 Nonsynonymous SNV Y600C 0 0 0.01 0 0 0 0 3 0 0 0 0 24.1 279494 chr8 119945261 119945261 G A rs372009662 TNFRSF11B Synonymous SNV R103R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.212 279495 chr8 110468573 110468573 A G rs571731547 PKHD1L1 Synonymous SNV V2319V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.764 279496 chr11 64124530 64124530 G A rs762453283 CCDC88B Synonymous SNV P1465P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 279497 chr8 133008669 133008669 T G rs367599401 EFR3A Synonymous SNV S658S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 279498 chr11 65269186 65269186 A G MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 279499 chr11 65271130 65271130 A G rs141963960 MALAT1, TALAM1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.427 279500 chr11 6661685 6661685 C T rs145132459 DCHS1 Nonsynonymous SNV R387H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 279501 chr11 66807340 66807340 G T rs199773761 SYT12 Nonsynonymous SNV G96V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.726 279502 chr7 21745109 21745109 G A rs760400353 DNAH11 Nonsynonymous SNV R2167Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 279503 chr18 21269663 21269663 C G rs899550243 LAMA3 Nonsynonymous SNV R6G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.9 279504 chr11 67132838 67132838 G A rs762129649 CLCF1 Synonymous SNV G139G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.326 279505 chr11 67187071 67187073 GGA - rs774402993 CARNS1 E203del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 279506 chr19 37643369 37643369 G A rs143272721 ZNF585A Nonsynonymous SNV R478W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 279507 chr18 24128459 24128459 C T KCTD1 Synonymous SNV A14A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.35 279508 chr1 245849605 245849605 C T rs369400379 KIF26B Nonsynonymous SNV S1107L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.211 279509 chr19 17692098 17692098 G A rs147181442 COLGALT1 Nonsynonymous SNV E572K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 279510 chr19 33372880 33372880 T C CEP89 Nonsynonymous SNV S669G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.82 279511 chr19 17943381 17943381 T C rs372947852 JAK3 Nonsynonymous SNV K876R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.418 279512 chr5 32093036 32093036 C T rs776143620 PDZD2 Nonsynonymous SNV A2584V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 17.61 279513 chr19 35251195 35251195 G A rs150001961 ZNF599 Stop gain R171X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 279514 chr19 39215121 39215121 C T rs760716411 ACTN4 Synonymous SNV S642S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 279515 chr19 39401330 39401330 C T rs144166216 CCER2 Nonsynonymous SNV R195H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.29 279516 chr19 19011239 19011239 G A COPE Nonsynonymous SNV T201M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 279517 chr1 247902693 247902693 G T rs61731393 OR14K1 Nonsynonymous SNV K259N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 279518 chr5 35039588 35039588 T A AGXT2 Nonsynonymous SNV E68V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.3 279519 chr19 35624653 35624653 G A LGI4 Synonymous SNV N86N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.177 279520 chr8 144940615 144940615 G A rs781981966 EPPK1 Synonymous SNV T2269T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 279521 chr8 144941084 144941084 C T rs370476982 EPPK1 Nonsynonymous SNV G2113E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 279522 chr19 39909387 39909387 G A rs770353049 PLEKHG2 Nonsynonymous SNV S307N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.9 279523 chr19 19765957 19765957 G A rs138597249 ATP13A1 Synonymous SNV S542S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.15 279524 chr5 37157773 37157773 T G CPLANE1 Nonsynonymous SNV Q2652H 0.001 0 0 3 1 0 0.008 0 0 0 0 0 22.9 279525 chr8 144995190 144995190 G A rs371751910 PLEC Synonymous SNV F2919F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.038 279526 chr19 40729330 40729330 C G CNTD2 Nonsynonymous SNV G213R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 279527 chr11 73716889 73716889 G A rs104894319 UCP3 Stop gain R143X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 38 279528 chr19 21607669 21607669 T A ZNF493 Synonymous SNV T608T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.803 279529 chr1 248201879 248201879 T C rs73141396 OR2L2 Synonymous SNV L104L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 279530 chr1 248201892 248201892 T G rs73141397 OR2L2 Nonsynonymous SNV V108G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 279531 chr11 74053967 74053967 T C rs200719379 PGM2L1 Nonsynonymous SNV I469V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 279532 chr19 41223769 41223769 G T rs145872081 ITPKC Nonsynonymous SNV E243D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.061 279533 chr8 145625594 145625594 G A rs367909531 CPSF1 Synonymous SNV N301N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.292 279534 chr9 420525 420525 C T rs774043738 DOCK8 Nonsynonymous SNV T1222M 0 0.003 0 0 0 1 0 0 0 0 0 0 15 279535 chr19 48699174 48699174 G T rs61734672 ZSWIM9 Nonsynonymous SNV R618M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 279536 chr19 49079247 49079247 G A rs544073330 SULT2B1 Nonsynonymous SNV V26I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 279537 chr11 82888774 82888774 C T rs1016371348 PCF11 Nonsynonymous SNV A1430V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 279538 chr7 55980348 55980348 - T rs536459452 ZNF713 Frameshift insertion S9Ffs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 279539 chr2 17952470 17952470 C T rs751324164 GEN1 Nonsynonymous SNV R240W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 279540 chr18 64221676 64221676 T C rs756475672 CDH19 Synonymous SNV Q192Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.271 279541 chr2 21231695 21231695 C A rs375053331 APOB Nonsynonymous SNV S2682I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 279542 chr19 41255569 41255569 C T C19orf54 Nonsynonymous SNV S47N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 279543 chr19 45206882 45206882 C T rs747880397 CEACAM16 Nonsynonymous SNV R101W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 279544 chr9 34625752 34625752 G C rs568084594 ARID3C Nonsynonymous SNV F126L 0.001 0 0 0 1 0 0 0 0 0 0 0 28 279545 chr19 3770838 3770838 - G RAX2 Frameshift insertion A159Gfs*178 0 0 0 1 0 0 0.003 0 0 0 0 0 279546 chr9 35660412 35660412 T C CCDC107 Synonymous SNV T91T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 279547 chr9 35809957 35809957 C G rs202025755 SPAG8 Nonsynonymous SNV G479A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 279548 chr19 51172489 51172489 G A SHANK1 Nonsynonymous SNV R910C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 279549 chr18 77134014 77134014 C T rs750255904 ATP9B Nonsynonymous SNV R1063C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 279550 chr19 42861123 42861123 G A rs771888892 MEGF8 Nonsynonymous SNV R1540Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 279551 chr2 27356142 27356142 G A rs367810758 PREB Nonsynonymous SNV A58V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.643 279552 chr9 37770706 37770706 C T TRMT10B Synonymous SNV L152L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 279553 chr19 1003331 1003331 C T rs753149069 GRIN3B Nonsynonymous SNV T210M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.279 279554 chr9 82333754 82333754 C T rs61742686 TLE4 Synonymous SNV H392H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.02 279555 chr2 33745726 33745726 G A rs753729020 RASGRP3 Nonsynonymous SNV V115I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.957 279556 chr2 36668528 36668528 G T rs540620911 CRIM1 Synonymous SNV V211V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 279557 chr2 37241079 37241079 C T HEATR5B Nonsynonymous SNV D1397N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 279558 chr12 109604693 109604693 G A ACACB Synonymous SNV V227V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 279559 chr9 95050521 95050521 G A IARS1 Nonsynonymous SNV H55Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 279560 chr9 79635466 79635466 G T FOXB2 Nonsynonymous SNV G299V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 279561 chr19 4207504 4207504 G A rs372390380 ANKRD24 Nonsynonymous SNV A182T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.43 279562 chr19 1108866 1108866 G A rs374174588 SBNO2 Synonymous SNV G1119G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.36 279563 chr19 11222194 11222194 C G rs960032925 LDLR Nonsynonymous SNV I187M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.7 279564 chr9 100693278 100693278 A G HEMGN Synonymous SNV F133F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.457 279565 chr5 127466839 127466839 G A SLC12A2 Nonsynonymous SNV A377T 0.001 0 0 4 1 0 0.01 0 0 0 0 0 34 279566 chr9 111714532 111714532 G A rs71499677 CTNNAL1 Nonsynonymous SNV R598W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 279567 chr9 112189329 112189329 C G rs147767465 PTPN3 Nonsynonymous SNV C14S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 279568 chr9 101151192 101151192 G A rs144313756 GABBR2 Synonymous SNV L491L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.57 279569 chr12 120271921 120271921 G A rs776943383 CIT Nonsynonymous SNV H210Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 279570 chr2 61516004 61516004 T A USP34 Synonymous SNV L1519L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.818 279571 chr9 114159401 114159401 G A rs41308916 ECPAS Synonymous SNV G895G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 279572 chr2 64863382 64863382 G C rs192234783 SERTAD2 Synonymous SNV L208L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 279573 chr9 104499844 104499844 C G GRIN3A Nonsynonymous SNV G140R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 279574 chr12 122265451 122265451 C T rs780659811 SETD1B Synonymous SNV H1788H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 279575 chr12 122658490 122658490 C G rs200334193 IL31 Synonymous SNV L22L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.262 279576 chr19 1469888 1469888 C A rs559460131 APC2 Synonymous SNV V2195V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.808 279577 chr19 14805896 14805896 C A ZNF333 Nonsynonymous SNV S26R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 279578 chr19 4525746 4525746 G A rs746375795 PLIN5 Nonsynonymous SNV R207W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 279579 chr9 113547894 113547894 G A rs541645382 MUSK Synonymous SNV P138P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.05 279580 chr9 114454735 114454735 T C rs73656294 SHOC1 Synonymous SNV S1071S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.051 279581 chr19 1535187 1535187 G A PLK5 Nonsynonymous SNV G317S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 279582 chr9 119461536 119461536 C T TRIM32 Synonymous SNV V505V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.323 279583 chr9 123177378 123177378 T C rs761856960 CDK5RAP2 Nonsynonymous SNV I1183V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.8 279584 chr7 102112954 102112954 T G rs539175596 LRWD1 Nonsynonymous SNV W378G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 279585 chr5 140735795 140735795 A G rs767896442 PCDHGA4 Nonsynonymous SNV N374S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 279586 chr5 140755735 140755735 G A rs757765992 PCDHGA6 Synonymous SNV V695V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.4 279587 chr19 48219924 48219924 C T rs150872006 EHD2 Nonsynonymous SNV R19C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 279588 chr12 15679174 15679174 C T rs956511489 PTPRO Synonymous SNV S714S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 279589 chr5 141053346 141053346 T A rs778196555 ARAP3 Nonsynonymous SNV E243V 0 0 0 2 0 0 0.005 0 0 0 0 0 24.4 279590 chr7 117397987 117398000 CTGCGCGAAGCTCT - CTTNBP2 Q1048Lfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 279591 chr12 25297498 25297498 G A CASC1 Nonsynonymous SNV A203V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 279592 chr19 49299706 49299706 C G BCAT2 Nonsynonymous SNV Q281H 0 0 0 1 0 0 0.003 0 0 0 0 0 16 279593 chr12 29630113 29630114 AG - rs781459273 OVCH1 S468Cfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 279594 chr9 125562954 125562954 C T rs144956332 OR1K1 Nonsynonymous SNV L185F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 279595 chr9 131484071 131484071 C T rs139767164 ZDHHC12 Nonsynonymous SNV R169H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 279596 chr12 3788154 3788154 C T rs755977858 CRACR2A Nonsynonymous SNV D151N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 279597 chr9 132084232 132084232 C A C9orf106 0 0.003 0 0 0 1 0 0 0 0 0 0 7.955 279598 chr19 55870888 55870888 G A rs537021809 FAM71E2 Nonsynonymous SNV R450W 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 279599 chr19 21301068 21301068 A T ZNF714 Nonsynonymous SNV Q533L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.193 279600 chr2 109403346 109403346 G T CCDC138 Nonsynonymous SNV G23V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 279601 chr2 110372965 110372965 T G SOWAHC Nonsynonymous SNV I300S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 279602 chr2 112854643 112854653 CTATGAAGACC - TMEM87B M377Kfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 279603 chr19 5616227 5616227 G A rs139626058 SAFB2 Synonymous SNV D153D 0.001 0.003 0.007 1 1 1 0.003 2 0 0 0 0 4.775 279604 chr12 44191535 44191535 A G rs750148003 TWF1 Synonymous SNV N195N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.625 279605 chr9 131669936 131669936 G A rs140343083 LRRC8A Nonsynonymous SNV D165N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 279606 chr9 134351650 134351650 C T rs200395505 PRRC2B Synonymous SNV S1378S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.44 279607 chr19 51729594 51729594 T C rs11882250 CD33 Nonsynonymous SNV F116L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.399 279608 chr19 51738465 51738465 G A rs58981829 CD33 Nonsynonymous SNV V140I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.393 279609 chr12 48723793 48723793 G - rs776100083 H1FNT E241Kfs*34 0 0 0.003 0 0 0 0 1 0 0 0 0 279610 chr12 49308194 49308194 C G rs771349110 CCDC65 Nonsynonymous SNV A103G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.704 279611 chr19 33333154 33333154 C T rs774878350 SLC7A9 Nonsynonymous SNV A382T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.883 279612 chr2 128938495 128938495 A G rs374536872 UGGT1 Nonsynonymous SNV N1311S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 279613 chr12 50367146 50367146 C T rs767762926 AQP6 Synonymous SNV L64L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 279614 chr2 135621200 135621200 C T rs148826882 ACMSD Nonsynonymous SNV A104V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 279615 chr19 58144750 58144750 G C ZNF211 Synonymous SNV P12P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.845 279616 chr5 170216243 170216243 A G rs2303134 GABRP Nonsynonymous SNV N55S 0 0 0 3 0 0 0.008 0 0 0 0 0 16.32 279617 chr9 139568228 139568228 C A rs759149037 AGPAT2 Synonymous SNV G239G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.62 279618 chr19 58797190 58797190 T C rs1003103251 ZNF8 Synonymous SNV F58F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.923 279619 chr5 176023859 176023859 T C GPRIN1 Nonsynonymous SNV S993G 0.001 0 0 3 1 0 0.008 0 0 0 0 0 25.4 279620 chr9 138395936 138395936 G A rs138712673 MRPS2 Nonsynonymous SNV G283E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.233 279621 chr9 139291467 139291467 G A SNAPC4 Nonsynonymous SNV P47S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.437 279622 chr12 54393770 54393770 A G rs56368105 HOXC-AS1 0 0 0.024 0 0 0 0 7 0 0 3 0 0.29 279623 chr9 139904261 139904261 G A rs773192534 ABCA2 Nonsynonymous SNV T2197M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 279624 chr19 38189013 38189013 A G ZNF607 Synonymous SNV F672F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.119 279625 chr10 1406018 1406018 G A ADARB2 Synonymous SNV P94P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.816 279626 chr19 54684613 54684613 C T rs199544070 MBOAT7 Nonsynonymous SNV R171H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 279627 chr9 140173265 140173265 C A TOR4A Synonymous SNV R42R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 279628 chr12 56234938 56234938 C T rs202159629 MMP19 Nonsynonymous SNV G86S 0 0 0.007 0 0 0 0 2 0 0 0 0 33 279629 chr19 39010055 39010055 C G RYR1 Nonsynonymous SNV A3407G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 279630 chr19 8841538 8841538 C T rs558277343 OR2Z1 Nonsynonymous SNV R50C 0 0.003 0 0 0 1 0 0 0 0 0 0 4.193 279631 chr19 8842113 8842113 C T OR2Z1 Synonymous SNV C241C 0 0.003 0 0 0 1 0 0 0 0 0 0 2.178 279632 chr2 179593048 179593048 C T rs1004050906 TTN Synonymous SNV E5257E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.468 279633 chr19 55752667 55752667 G C PPP6R1 Nonsynonymous SNV S367R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 279634 chr10 5842600 5842600 G A rs145533869 GDI2 Synonymous SNV Y38Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 279635 chr10 14563931 14563931 T C rs780960343 FAM107B Synonymous SNV E72E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.2 279636 chr12 6559487 6559487 C A rs144098443 CD27 Nonsynonymous SNV H139Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.87 279637 chr19 41892595 41892595 C A EXOSC5 Synonymous SNV S217S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.24 279638 chr10 18439900 18439900 G A rs150722502 CACNB2 Nonsynonymous SNV R42H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 279639 chr19 42132310 42132310 G A rs782000006 CEACAM4 Nonsynonymous SNV P30L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 279640 chr10 25464580 25464580 G A rs764018775 GPR158 Synonymous SNV E77E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.053 279641 chr12 71286629 71286629 T C PTPRR Nonsynonymous SNV R63G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 279642 chr19 59073539 59073539 G T MZF1 Nonsynonymous SNV T702N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 279643 chr12 78512038 78512038 T C rs370297366 NAV3 Nonsynonymous SNV S1001P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.116 279644 chr19 44501320 44501320 T C rs760957967 ZNF155 Synonymous SNV Y437Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.536 279645 chr19 44501321 44501321 G A rs764370096 ZNF155 Nonsynonymous SNV V438I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.148 279646 chr19 44501325 44501325 C G rs146204893 ZNF155 Nonsynonymous SNV T439S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.754 279647 chr10 32307284 32307284 C T rs775521250 KIF5B Nonsynonymous SNV R800H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 279648 chr19 929812 929812 G A rs765015703 ARID3A Nonsynonymous SNV R95Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.118 279649 chr12 85255552 85255552 C A rs145111717 SLC6A15 Nonsynonymous SNV E577D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 279650 chr12 88566505 88566505 G A rs760199855 TMTC3 Synonymous SNV Q163Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.39 279651 chr12 97178589 97178589 C T CFAP54 Synonymous SNV T2792T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 279652 chr1 149876686 149876686 G A rs7518476 SV2A Synonymous SNV I155I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.75 279653 chr10 50966584 50966584 G C rs773576576 OGDHL Nonsynonymous SNV L19V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 279654 chr13 108862367 108862367 G A LIG4 Nonsynonymous SNV A417V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 279655 chr19 49079224 49079224 G A rs117476816 SULT2B1 Nonsynonymous SNV R18Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 20 279656 chr1 152084281 152084281 C T TCHH Nonsynonymous SNV R471K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 279657 chr10 64967360 64967360 G A rs200927709 JMJD1C Nonsynonymous SNV P1138S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 279658 chr10 69672488 69672488 A G rs199497583 SIRT1 Nonsynonymous SNV S236G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.16 279659 chr19 49242350 49242350 G A rs753646799 RASIP1 Synonymous SNV G230G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.4 279660 chr13 23471529 23471529 G A rs894064276 BASP1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.621 279661 chr13 23908013 23908013 C G SACS Nonsynonymous SNV L3187F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 279662 chr13 26535736 26535736 A G rs376207799 ATP8A2 Synonymous SNV A1004A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.124 279663 chr19 50243411 50243411 G A rs750484116 TSKS Synonymous SNV H509H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.08 279664 chr19 50376380 50376380 G A rs375398248 AKT1S1 Nonsynonymous SNV A58V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 279665 chr1 108247671 108247671 T C rs34392412 VAV3 Synonymous SNV R505R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.344 279666 chr1 1558913 1558913 C T rs753515862 MIB2 Synonymous SNV D85D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 279667 chr10 78711832 78711832 T G KCNMA1 Nonsynonymous SNV Q799P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 279668 chr19 50969453 50969453 G A MYBPC2 Synonymous SNV V1139V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.53 279669 chr10 79595496 79595496 C T DLG5 Nonsynonymous SNV R541Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 279670 chr2 232135738 232135738 G A rs201100561 ARMC9 Nonsynonymous SNV R355Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 279671 chr2 233394841 233394841 C G CHRND Nonsynonymous SNV P256R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 279672 chr10 88681437 88681437 C T rs35619497 BMPR1A Nonsynonymous SNV R443C 0 0.005 0.003 0 0 2 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 279673 chr1 152323288 152323288 G T rs183397787 FLG2 Nonsynonymous SNV A2325E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.469 279674 chr2 236626242 236626242 G A rs770338821 AGAP1 Synonymous SNV V88V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 279675 chr10 91162592 91162592 G A rs141052988 IFIT1 Nonsynonymous SNV R187H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 279676 chr10 93767996 93767996 A G rs370361997 BTAF1 Synonymous SNV P1259P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.163 279677 chr13 96239889 96239889 T G rs149427250 DZIP1 Nonsynonymous SNV N689H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 279678 chr10 96707649 96707649 G A rs562386989 CYP2C9 Nonsynonymous SNV E199K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.183 279679 chr1 117560927 117560927 A G rs200268262 CD101 Nonsynonymous SNV I588V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 279680 chr6 109764897 109764897 C T SMPD2 Nonsynonymous SNV A354V 0 0 0 2 0 0 0.005 0 0 0 0 0 4.415 279681 chr10 102749623 102749623 A G rs765275995 TWNK Nonsynonymous SNV H489R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 279682 chr3 9027281 9027281 C T rs144096171 SRGAP3 Synonymous SNV S1050S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.69 279683 chr3 9027473 9027473 G C SRGAP3 Synonymous SNV A986A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.648 279684 chr10 103919239 103919239 C T rs888210518 NOLC1 Nonsynonymous SNV T268I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 279685 chr14 104640563 104640563 G A rs914704307 KIF26A Synonymous SNV S703S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.903 279686 chr14 104643211 104643211 G C rs766627725 KIF26A Synonymous SNV P1362P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.461 279687 chr14 104643444 104643444 G A rs575848831 KIF26A Nonsynonymous SNV R1440Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 279688 chr10 105185092 105185092 G A rs747290848 PDCD11 Nonsynonymous SNV V1039I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 279689 chr14 105173713 105173713 G T rs772790262 INF2 Nonsynonymous SNV G370V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 279690 chr1 150131505 150131505 C G rs202040526 PLEKHO1 Synonymous SNV P167P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 279691 chr10 104572581 104572581 C T rs148243020 WBP1L Synonymous SNV I195I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.23 279692 chr1 150482456 150482456 C T rs587692154 ECM1 Synonymous SNV A121A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.445 279693 chr10 112572473 112572473 A G rs181769913 RBM20 Nonsynonymous SNV K773R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 279694 chr10 112660260 112660260 A G rs11548767 BBIP1 Nonsynonymous SNV M21T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.538 279695 chr10 112661316 112661316 C T rs201753066 BBIP1 Nonsynonymous SNV R9Q 0 0.003 0 0 0 1 0 0 0 0 0 0 18.82 279696 chr10 114043514 114043514 T C TECTB Synonymous SNV L8L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.661 279697 chr1 151131244 151131244 G A rs587624097 TNFAIP8L2 Nonsynonymous SNV R24H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 31 279698 chr1 161043564 161043564 G C rs143084795 NECTIN4 Synonymous SNV T393T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.755 279699 chr1 161726654 161726654 A G rs188357155 DUSP12 Nonsynonymous SNV T314A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 279700 chr14 21487276 21487276 T C rs200458592 NDRG2 Nonsynonymous SNV R250G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 279701 chr1 16263885 16263885 G A rs116419497 SPEN Synonymous SNV Q3418Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.125 279702 chr10 119044369 119044369 A T rs768683813 PDZD8 Synonymous SNV P625P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 279703 chr10 120445670 120445670 T C CACUL1 Synonymous SNV S360S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 279704 chr14 21979316 21979316 G T METTL3 Nonsynonymous SNV S17Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 279705 chr14 23242895 23242895 C T rs755163036 SLC7A7 Nonsynonymous SNV C487Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 279706 chr14 23243645 23243645 C G SLC7A7 Nonsynonymous SNV S388T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 279707 chr14 23777074 23777074 C G BCL2L2, BCL2L2-PABPN1 Nonsynonymous SNV P33R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 279708 chr3 38539187 38539187 C T rs777801868 EXOG Synonymous SNV Y77Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 279709 chr1 150531521 150531521 G A rs201300637 ADAMTSL4 Synonymous SNV G881G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.023 279710 chr1 156286974 156286974 G A CCT3 Synonymous SNV D281D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 279711 chr14 23993595 23993595 G A rs780837560 ZFHX2 Synonymous SNV G1852G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.75 279712 chr1 151108993 151108993 T G rs141765997 SEMA6C Nonsynonymous SNV K306T 0 0 0 1 0 0 0.003 0 0 0 0 0 26 279713 chr14 24780865 24780865 A G rs143666989 LTB4R2 Nonsynonymous SNV Q332R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.804 279714 chr14 34266759 34266759 A G rs149420356 NPAS3 Synonymous SNV S436S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.795 279715 chr14 36103923 36103923 T C rs374486689 RALGAPA1 Nonsynonymous SNV N1904S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 279716 chr3 44856506 44856506 G C rs34058914 KIF15 Nonsynonymous SNV E829D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 279717 chr1 156264681 156264681 C A GLMP Nonsynonymous SNV V83L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 279718 chr1 156595148 156595148 A G rs756191218 HAPLN2 Nonsynonymous SNV Y332C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 279719 chr1 156639997 156639997 C G NES Nonsynonymous SNV G1328A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.972 279720 chr1 156640661 156640661 C T NES Nonsynonymous SNV G1107R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.29 279721 chr1 156640663 156640663 C T NES Nonsynonymous SNV G1106E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 279722 chr3 47050122 47050122 C G NBEAL2 Nonsynonymous SNV T2630S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 279723 chr11 618882 618882 G A CDHR5 Synonymous SNV T553T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.308 279724 chr1 1902180 1902180 T C rs370425499 CFAP74 Nonsynonymous SNV K322E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.469 279725 chr3 48630862 48630862 G A rs372585819 COL7A1 Synonymous SNV D149D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.953 279726 chr3 50381254 50381254 C T rs146847253 ZMYND10 Nonsynonymous SNV A77T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.32 279727 chr7 4794897 4794897 G A rs191900938 FOXK1 Synonymous SNV A311A 0 0 0 2 0 0 0.005 0 0 0 0 0 12.29 279728 chr1 202407189 202407189 - A PPP1R12B Frameshift insertion V499Dfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 279729 chr14 69392352 69392352 G A rs368583570 ACTN1 Nonsynonymous SNV A48V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 279730 chr14 70245238 70245238 C T rs147226818 SLC10A1 Nonsynonymous SNV R252H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 279731 chr14 71568912 71568912 G A PCNX1 Nonsynonymous SNV R1821H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 279732 chr14 73678523 73678523 C T rs116640707 PSEN1 Synonymous SNV G334G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.83 279733 chr14 73989085 73989085 G - HEATR4 L258Sfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 279734 chr14 74179992 74179992 T G rs35585529 PNMA1 Nonsynonymous SNV Q117H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 279735 chr3 57563083 57563083 C T rs748489377 ARF4 Nonsynonymous SNV R97H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 279736 chr1 1684350 1684350 - CCT NADK E413_G414insE 0.003 0 0 2 4 0 0.005 0 0 0 0 0 279737 chr1 169435183 169435183 G A rs370262388 SLC19A2 Synonymous SNV I265I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.18 279738 chr1 212156042 212156042 T C INTS7 Nonsynonymous SNV I321V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 279739 chr11 2187722 2187722 C A rs11826260 TH Synonymous SNV A345A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.29 279740 chr11 4406842 4406842 C T TRIM21 Synonymous SNV G367G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.172 279741 chr11 4566675 4566675 A C OR52M1 Synonymous SNV G85G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.241 279742 chr11 4608254 4608254 G A OR52I2 Nonsynonymous SNV G71E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 279743 chr15 100230572 100230572 G A MEF2A Nonsynonymous SNV S198N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 279744 chr11 4626577 4626577 C G rs759812044 TRIM68 Nonsynonymous SNV W53S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 279745 chr3 119305370 119305370 A G ADPRH Synonymous SNV T72T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.102 279746 chr11 5068437 5068437 C T rs78740568 OR52J3 Nonsynonymous SNV R228C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.592 279747 chr1 20009856 20009856 C T rs374194395 TMCO4 Nonsynonymous SNV E528K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 279748 chr1 118499820 118499820 G A rs200383662 WDR3 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 279749 chr1 231472963 231472963 C G EXOC8 Nonsynonymous SNV E177Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 279750 chr1 120166383 120166383 C G ZNF697 Nonsynonymous SNV G195R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 279751 chr11 5537397 5537397 T A rs7933557 UBQLNL Nonsynonymous SNV D92V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 279752 chr3 124174077 124174077 A T KALRN Nonsynonymous SNV E1150D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 279753 chr1 233515030 233515030 C T rs373332852 MAP3K21 Stop gain R760X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 279754 chr11 5758002 5758002 A G rs74051091 OR56B1 Nonsynonymous SNV I86V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 279755 chr9 135771835 135771835 C T rs116747861 TSC1 Synonymous SNV E1043E 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.82 279756 chr7 65441133 65441133 G A rs768075787 GUSB Nonsynonymous SNV R42C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.702 279757 chr3 130104024 130104024 G A rs554198164 COL6A5 Nonsynonymous SNV V560M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.849 279758 chr1 240519118 240519118 T G FMN2 Nonsynonymous SNV C1590G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 279759 chr9 138590907 138590907 G A SOHLH1 Nonsynonymous SNV A44V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.29 279760 chr15 43748962 43748962 G A rs141222111 TP53BP1 Nonsynonymous SNV T615M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.28 279761 chr1 204237339 204237339 T C rs747741063 PLEKHA6 Synonymous SNV K68K 0 0 0 1 0 0 0.003 0 0 0 0 0 2.065 279762 chr11 6648173 6648173 C T rs145562528 DCHS1 Nonsynonymous SNV D2033N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.68 279763 chr15 63058546 63058546 G C rs35946975 TLN2 Synonymous SNV V1707V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.59 279764 chr3 170204106 170204106 T C SLC7A14 Nonsynonymous SNV I271V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 279765 chr15 66855961 66855961 C T rs767964529 LCTL Nonsynonymous SNV E125K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.99 279766 chr1 220170660 220170660 G A rs745909924 EPRS1 Nonsynonymous SNV P736S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.363 279767 chr15 70961674 70961674 C T rs753673926 UACA Nonsynonymous SNV R437Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 279768 chr15 71433891 71433891 C T THSD4 Nonsynonymous SNV L9F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 279769 chr11 17809792 17809792 G A rs182468879 SERGEF Nonsynonymous SNV P406L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 279770 chr15 73076410 73076410 A C rs772370823 ADPGK-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.45 279771 chr15 75120435 75120435 C T rs746910715 CPLX3 Synonymous SNV H75H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.26 279772 chr15 75498970 75498970 T C rs749663017 C15orf39 Nonsynonymous SNV V194A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.729 279773 chr3 184298535 184298535 C A EPHB3 Nonsynonymous SNV R803S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 279774 chr15 76552033 76552033 C T TYRO3P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.89 279775 chr1 26662685 26662685 G A CRYBG2 Nonsynonymous SNV S1362F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 279776 chr1 228288834 228288834 A G rs770334044 C1orf35 X264R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 279777 chr15 80200008 80200008 C T rs778309866 ST20-MTHFS Nonsynonymous SNV R3Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 279778 chr11 33370105 33370105 G A rs373565743 HIPK3 Nonsynonymous SNV A782T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.49 279779 chr1 27212520 27212520 G A GPN2 Synonymous SNV L225L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.829 279780 chr1 28339712 28339712 C T EYA3 Nonsynonymous SNV A181T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 279781 chr11 33373319 33373319 C G HIPK3 Synonymous SNV V970V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.714 279782 chr11 33731760 33731760 A C rs761008545 CD59 Nonsynonymous SNV L100R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 279783 chr15 85164245 85164245 C T rs138088164 ZSCAN2 Synonymous SNV T273T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 279784 chr1 32158384 32158384 G A rs2229803 COL16A1 Nonsynonymous SNV P366L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 279785 chr1 1688550 1688550 C T rs199931813 NADK Nonsynonymous SNV A259T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.536 279786 chr1 231752474 231752474 G A rs138554020 TSNAX-DISC1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.652 279787 chr11 46563503 46563503 T C AMBRA1 Synonymous SNV S688S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.191 279788 chr4 860747 860747 C T rs143655919 GAK Nonsynonymous SNV A878T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.972 279789 chr11 48285740 48285740 G A rs61747640 OR4X1 Nonsynonymous SNV A110T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 279790 chr11 48327834 48327834 G T rs61745901 OR4S1 Nonsynonymous SNV E20D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.368 279791 chr1 41950236 41950236 G A rs149018257 EDN2 Synonymous SNV L13L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.428 279792 chr1 237754020 237754020 C T rs373721253 RYR2 Synonymous SNV N1296N 0 0.005 0 1 0 2 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.767 279793 chr1 47030774 47030774 C T rs141505843 MKNK1 Nonsynonymous SNV G183D 0 0.003 0 0 0 1 0 0 0 0 0 0 33 279794 chr1 247492767 247492767 G A rs144794714 ZNF496 Synonymous SNV P38P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.277 279795 chr16 133138 133138 G A rs200449939 MPG Nonsynonymous SNV A130T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 279796 chr1 51864800 51864800 T C rs372953916 EPS15 Synonymous SNV P338P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.897 279797 chr1 52280483 52280483 C A NRDC Nonsynonymous SNV C481F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 279798 chr1 52854258 52854258 T G rs377164890 ORC1 Synonymous SNV A413A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 9.775 279799 chr4 13603867 13603867 G C BOD1L1 Nonsynonymous SNV P1553A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.49 279800 chr16 1706125 1706125 C T rs553081131 CRAMP1 Nonsynonymous SNV T456M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 279801 chr1 248224145 248224145 C T rs200369025 OR2L3 Synonymous SNV L54L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.971 279802 chr4 23815506 23815506 A G rs199669057 PPARGC1A Nonsynonymous SNV F407L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 279803 chr16 19505640 19505640 G A TMC5 Synonymous SNV E715E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.903 279804 chr1 249141880 249141880 C A rs774214722 ZNF672 Nonsynonymous SNV T136N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.6 279805 chr16 21078730 21078730 T C DNAH3 Nonsynonymous SNV N1085S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.46 279806 chr16 21327233 21327233 T A rs145520364 CRYM-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 12.92 279807 chr10 81319267 81319267 C A rs1650232 SFTPA2 0.002 0 0 0 2 0 0 0 0 0 0 0 4.764 279808 chr1 25573140 25573140 G T RSRP1 Stop gain Y105X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 279809 chr1 201328372 201328372 C T rs397516484 TNNT2 Nonsynonymous SNV R272H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 28 279810 chr1 26873378 26873378 G C rs534936061 RPS6KA1 Nonsynonymous SNV E52D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 279811 chr1 27950344 27950344 G A rs772648999 FGR Synonymous SNV Y28Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.81 279812 chr1 28081716 28081716 G A FAM76A Nonsynonymous SNV D124N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 279813 chr16 2546749 2546749 C T rs754946588 TBC1D24 Synonymous SNV A200A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 279814 chr1 63789986 63789986 A T rs751262997 FOXD3 Synonymous SNV P419P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.766 279815 chr1 31898217 31898217 G A rs140666908 SERINC2 Nonsynonymous SNV V149M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 279816 chr11 57268743 57268743 G A SLC43A1 Stop gain Q72X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 279817 chr11 57563103 57563103 A T rs147401852 CTNND1 Nonsynonymous SNV I7F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.35 279818 chr16 30976488 30976488 C G SETD1A Synonymous SNV T475T 0 0 0.007 0 0 0 0 2 0 0 0 0 5.226 279819 chr1 35480439 35480439 A G ZMYM6 Synonymous SNV D218D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.149 279820 chr8 1950988 1950988 C T rs762811153 KBTBD11 Nonsynonymous SNV P544S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.187 279821 chr1 84944980 84944980 G T rs762350641 RPF1 Nonsynonymous SNV D6Y 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 279822 chr1 37271817 37271817 G A rs373465990 GRIK3 Synonymous SNV Y734Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.611 279823 chr1 85624463 85624463 G A rs760446386 SYDE2 Synonymous SNV L1185L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.447 279824 chr11 62289454 62289454 G A rs138877983 AHNAK Synonymous SNV G4145G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 279825 chr8 10622947 10622947 C T rs756018316 PINX1 Synonymous SNV T317T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.91 279826 chr8 11710887 11710888 AG - rs776941569 CTSB L26Vfs*3 0 0 0 2 0 0 0.005 0 0 0 0 0 279827 chr11 62902149 62902149 T C SLC22A24 Nonsynonymous SNV H165R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.519 279828 chr4 88036073 88036073 G A rs147870545 AFF1 Synonymous SNV A327A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.98 279829 chr4 88733054 88733054 C A rs781263479 IBSP Nonsynonymous SNV H316N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.958 279830 chr11 64005841 64005841 C T VEGFB Stop gain R187X 0 0.003 0 0 0 1 0 0 0 0 0 0 15.41 279831 chr1 223175895 223175895 G A DISP1 Nonsynonymous SNV A386T 0 0 0 1 0 0 0.003 0 0 0 0 0 26 279832 chr1 223176301 223176301 A G DISP1 Nonsynonymous SNV Y521C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 279833 chr11 65108544 65108544 G A rs765130489 DPF2 Nonsynonymous SNV D101N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 279834 chr1 47882185 47882185 C T FOXE3 Synonymous SNV P66P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.18 279835 chr1 987133 987133 C T rs148105695 AGRN Synonymous SNV D1863D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.29 279836 chr4 110791016 110791016 C T LRIT3 Nonsynonymous SNV P371S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 279837 chr1 228403528 228403528 G A rs765471792 OBSCN Nonsynonymous SNV R698Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.62 279838 chr1 52704628 52704628 A G rs746160726 ZFYVE9 Synonymous SNV S513S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.629 279839 chr8 37794819 37794819 G A rs374016210 GOT1L1 Synonymous SNV P165P 0 0 0 2 0 0 0.005 0 0 0 0 0 8.073 279840 chr1 57420448 57420448 G C rs151302643 C8B Nonsynonymous SNV D148E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 27.4 279841 chr8 38034485 38034485 C A rs749569625 BAG4 Nonsynonymous SNV P33H 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 279842 chr11 72299854 72299854 G A rs138984931 PDE2A Synonymous SNV C341C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 279843 chr1 6208923 6208923 C T CHD5 Synonymous SNV P458P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.93 279844 chr11 73106137 73106137 G A rs144475940 RELT Nonsynonymous SNV R351H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 279845 chr11 73745023 73745023 T C rs938479476 C2CD3 Nonsynonymous SNV D2061G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 279846 chr11 73843996 73843996 A G rs765677025 C2CD3 Synonymous SNV N370N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.587 279847 chr16 81095192 81095192 G A rs142706633 C16orf46 Synonymous SNV G254G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.141 279848 chr11 74460000 74460000 G A rs778643149 RNF169 Synonymous SNV R25R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.755 279849 chr8 65528568 65528568 G A rs145152682 CYP7B1 Nonsynonymous SNV T177M 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 0.002 279850 chr11 76506995 76506995 C T rs150218579 TSKU Nonsynonymous SNV S112L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 279851 chr8 67809044 67809044 G A rs200374733 MCMDC2 Synonymous SNV V492V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.32 279852 chr16 84188336 84188336 G C rs370128838 DNAAF1 Synonymous SNV L169L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.183 279853 chr1 74936261 74936261 C T LRRC53 Synonymous SNV K1015K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 279854 chr1 85331350 85331350 C T LPAR3 Nonsynonymous SNV V152I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 279855 chr1 246890273 246890273 A G rs144493145 SCCPDH Synonymous SNV K90K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.575 279856 chr20 33583320 33583320 T C rs745535104 MYH7B Nonsynonymous SNV I1003T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 279857 chr11 94040633 94040633 C T rs199763557 IZUMO1R Synonymous SNV S176S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.91 279858 chr20 34085857 34085857 G C rs377013576 CEP250 Nonsynonymous SNV G574R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.64 279859 chr1 85392400 85392400 T G rs200005364 MCOLN2 Synonymous SNV R557R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.034 279860 chr16 88786877 88786877 G A rs367814129 PIEZO1 Synonymous SNV R1955R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.695 279861 chr16 8891471 8891471 T C rs147436106 TMEM186 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.06 279862 chr16 88947740 88947740 C T rs200173287 CBFA2T3 Nonsynonymous SNV R368Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 279863 chr1 9064926 9064926 G A rs772287606 SLC2A7 Nonsynonymous SNV S402L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 279864 chr8 120862709 120862709 G A rs751170092 DSCC1 Synonymous SNV P133P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.664 279865 chr1 909846 909846 G A rs142252262 PLEKHN1 Nonsynonymous SNV R541Q 0 0.005 0 1 0 2 0.003 0 0 0 0 0 6.017 279866 chr11 108381371 108381371 G T rs758183752 EXPH5 Synonymous SNV P1433P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 279867 chr20 43355952 43355952 C T rs371417456 CCN5 Synonymous SNV A170A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.684 279868 chr1 249142292 249142292 T C rs201669580 ZNF672 Synonymous SNV H273H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.372 279869 chr1 249148191 249148191 A G rs143113789 ZNF692 Synonymous SNV C321C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.774 279870 chr16 89598973 89598973 C G SPG7 Nonsynonymous SNV S418C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 279871 chr16 90106842 90106842 G C GAS8 Nonsynonymous SNV E190D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 279872 chr17 11461383 11461383 G A rs374985257 SHISA6 Nonsynonymous SNV R422K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 279873 chr20 47253019 47253019 C T PREX1 Synonymous SNV L1383L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.62 279874 chr20 47700598 47700598 C G CSE1L Synonymous SNV L450L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 279875 chr17 15965548 15965548 T A rs779928421 NCOR1 Nonsynonymous SNV Y1769F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 279876 chr11 117789313 117789342 GGGCTGGAGATGCCTGGGCTGGAGATGCCT - rs779140532 TMPRSS13 Q78_A87del 0 0.003 0 0 0 1 0 0 0 0 0 0 279877 chr11 121498340 121498340 A G rs146054968 SORL1 Nonsynonymous SNV I2147M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 279878 chr1 3394464 3394464 G T rs190407416 ARHGEF16 Nonsynonymous SNV R500L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 279879 chr17 17881009 17881009 C A DRC3 Nonsynonymous SNV Q33K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 279880 chr5 37016170 37016170 C T rs587783956 NIPBL Synonymous SNV Y1558Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.092 279881 chr11 123847435 123847435 G A rs551280343 OR10S1 Stop gain R322X 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 279882 chr17 18250889 18250889 C T rs563467894 SHMT1 Nonsynonymous SNV G9D 0 0 0.003 0 0 0 0 1 0 0 0 0 31 279883 chr1 3807258 3807258 G C rs12036962 C1orf174 Nonsynonymous SNV P165A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 279884 chr1 3807450 3807450 C A rs10909820 C1orf174 Nonsynonymous SNV A101S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.02 279885 chr11 123900411 123900411 G A rs202220125 OR10G8 Nonsynonymous SNV V28I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 279886 chr17 2290752 2290752 C T rs373932523 MNT Nonsynonymous SNV V398M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 279887 chr11 128840603 128840603 G A rs748204862 ARHGAP32 Nonsynonymous SNV P1139L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 279888 chr20 61939911 61939911 G A rs769320416 COL20A1 Nonsynonymous SNV V265M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 279889 chr12 1863651 1863651 G C rs761512602 ADIPOR2 Nonsynonymous SNV A48P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 279890 chr20 35445831 35445831 G A rs373774469 SOGA1 Synonymous SNV A371A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.45 279891 chr5 79373994 79373994 G A rs2229398 THBS4 Nonsynonymous SNV V646I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 279892 chr1 4772434 4772434 C T AJAP1 Synonymous SNV D168D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.499 279893 chr17 36708826 36708826 G A rs145729990 SRCIN1 Synonymous SNV H779H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.231 279894 chr12 7476995 7476995 G - ACSM4 Y480Tfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 279895 chr20 42635313 42635313 G A rs139380167 TOX2 Nonsynonymous SNV G56S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.03 279896 chr1 54518710 54518710 G A TMEM59 Nonsynonymous SNV A51V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 279897 chr20 44803487 44803487 G C rs1036214133 CDH22 Synonymous SNV G715G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.226 279898 chr1 55352610 55352610 G A DHCR24 Synonymous SNV S61S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.269 279899 chr12 9334595 9334595 C T rs16918152 PZP Synonymous SNV E555E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.796 279900 chr17 3924534 3924534 T A rs754123061 ZZEF1 Synonymous SNV R2431R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.249 279901 chr21 43221475 43221475 C T rs759648530 PRDM15 Synonymous SNV P1154P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.046 279902 chr20 56185241 56185241 C T rs61749015 ZBP1 Nonsynonymous SNV A278T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 279903 chr21 44838261 44838261 G A rs377361018 SIK1, SIK1B Synonymous SNV P541P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.302 279904 chr5 134364813 134364813 A G rs370544754 PITX1 Nonsynonymous SNV F201L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 279905 chr17 40068742 40068742 G A rs782536971 ACLY Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 279906 chr12 14849331 14849331 C T rs780575858 GUCY2C Nonsynonymous SNV G18R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 279907 chr17 40273121 40273121 C A rs782745282 KAT2A Nonsynonymous SNV G68W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 279908 chr17 40345560 40345562 GCA - rs756832583 GHDC L13del 0 0 0.003 0 0 0 0 1 0 0 0 0 279909 chr17 41031440 41031440 C G rs534520023 LINC00671 0 0 0.003 0 0 0 0 1 0 0 0 0 4.566 279910 chr5 137665329 137665329 G A CDC25C Nonsynonymous SNV P68S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 279911 chr5 139936985 139936985 A G rs548631536 SRA1 Nonsynonymous SNV L18P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.011 279912 chr5 139947092 139947092 G A rs552003175 SLC35A4 Nonsynonymous SNV S113N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 279913 chr17 42855423 42855423 A G ADAM11 Nonsynonymous SNV E525G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.64 279914 chr1 85009979 85009979 A G rs764611748 SPATA1 Nonsynonymous SNV Q271R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.085 279915 chr17 4453486 4453486 G A rs773355550 MYBBP1A Nonsynonymous SNV R396W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 279916 chr11 32457138 32457138 A G rs2234580 WT1-AS 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 16.96 279917 chr17 46128960 46128960 C G rs202150333 NFE2L1 Synonymous SNV A160A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.941 279918 chr12 32994058 32994058 A C rs147240502 PKP2 Nonsynonymous SNV I487S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 25.6 279919 chr12 46582803 46582803 A G rs747873149 SLC38A1 Synonymous SNV L472L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.741 279920 chr12 48543596 48543596 G A ASB8 Synonymous SNV S140S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 279921 chr9 117168657 117168657 C T WHRN Synonymous SNV V387V 0 0 0 3 0 0 0.008 0 0 0 0 0 6.822 279922 chr22 29727881 29727881 G C rs138608403 AP1B1 Synonymous SNV P751P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.066 279923 chr17 58952080 58952080 G A rs751769056 BCAS3 Synonymous SNV T214T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 279924 chr9 123476548 123476548 - CGGCGGCGGCGG MEGF9 A31_V32insAAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 279925 chr5 150948418 150948418 A C FAT2 Nonsynonymous SNV I25M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 279926 chr20 1458044 1458044 T C SIRPB2 Synonymous SNV K266K 0 0 0 1 0 0 0.003 0 0 0 0 0 2.84 279927 chr17 61556453 61556453 T C rs139076951 ACE Nonsynonymous SNV L168P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 279928 chr5 154188161 154188161 C T rs139137850 LARP1 Synonymous SNV Y675Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 279929 chr5 156675985 156675985 G A rs56005928 ITK Nonsynonymous SNV V587I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.171 279930 chr17 649352 649352 G C rs770262994 GEMIN4 Nonsynonymous SNV A644G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 279931 chr21 43255585 43255585 G A rs769256012 PRDM15 Nonsynonymous SNV R480C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 279932 chr17 67257396 67257396 G A rs763638212 ABCA5 Nonsynonymous SNV A1145V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 279933 chr17 679124 679124 G A rs149237575 GLOD4 Synonymous SNV N43N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.835 279934 chr22 38122335 38122335 C A rs374553299 TRIOBP Nonsynonymous SNV P1258T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.7 279935 chr12 54975877 54975877 G A PPP1R1A Stop gain Q96X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 279936 chr21 45941906 45941906 C T TSPEAR Nonsynonymous SNV A476T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 279937 chr5 177673400 177673400 C T rs201369396 COL23A1 Nonsynonymous SNV G451S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.6 279938 chr17 73724461 73724461 G A rs775438066 ITGB4 Nonsynonymous SNV R158Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.357 279939 chr12 57548454 57548454 G A rs896118380 LRP1 Synonymous SNV K399K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.865 279940 chr12 65514267 65514267 G T rs764409521 WIF1 Nonsynonymous SNV A73E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25.5 279941 chr22 17984040 17984040 G T CECR2 Nonsynonymous SNV A125S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 279942 chr17 7483363 7483363 C G CD68 Nonsynonymous SNV S68R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 279943 chr20 34571948 34571948 A G CNBD2 Nonsynonymous SNV N151S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.976 279944 chr17 76120199 76120199 G A rs374227044 TMC6 Nonsynonymous SNV P318L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 279945 chr22 20100481 20100481 C T TRMT2A Synonymous SNV L533L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.904 279946 chr17 76497511 76497511 G C DNAH17-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.33 279947 chr20 39978766 39978766 G T rs140402475 LPIN3 Synonymous SNV R278R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.551 279948 chr20 42252670 42252670 T C IFT52 Nonsynonymous SNV F303S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 279949 chr17 78063951 78063951 C A CCDC40 Nonsynonymous SNV T949K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.648 279950 chr12 81839440 81839440 C T PPFIA2 Synonymous SNV T81T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.49 279951 chr12 83290376 83290376 G C rs759569147 TMTC2 Nonsynonymous SNV Q233H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.97 279952 chr12 88453678 88453678 T C CEP290 Synonymous SNV K2214K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.673 279953 chr22 50967746 50967746 C T rs751450304 TYMP Nonsynonymous SNV R79Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.85 279954 chr12 89745538 89745538 G C rs370311640 DUSP6 Nonsynonymous SNV D93E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.18 279955 chr12 95618008 95618008 G A VEZT Nonsynonymous SNV R30K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.86 279956 chr12 96717805 96717805 G C CDK17 Synonymous SNV P68P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.375 279957 chr12 98989529 98989529 C T rs754462038 SLC25A3 Nonsynonymous SNV A61V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 279958 chr6 28213224 28213224 C T rs745789855 ZKSCAN4 Nonsynonymous SNV M281I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 279959 chr22 30518055 30518055 C G HORMAD2 Nonsynonymous SNV S136C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 279960 chr12 105151192 105151192 G C rs148230565 CHST11 Nonsynonymous SNV A219P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.91 279961 chr17 8274661 8274661 T C rs781128590 KRBA2 Synonymous SNV T64T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 279962 chr20 57572716 57572716 C T rs202127342 CTSZ Nonsynonymous SNV G194S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 279963 chr18 13068921 13068921 C T rs143041966 CEP192 Synonymous SNV P1631P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.977 279964 chr2 120005456 120005456 G A rs141034237 STEAP3 Nonsynonymous SNV V232I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 279965 chr6 36688298 36688298 G T rs1031927936 RAB44 Synonymous SNV R329R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.691 279966 chr12 110930945 110930945 A G rs760717691 VPS29 Nonsynonymous SNV M96T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 279967 chr2 120125843 120125843 G A rs141695295 DBI Nonsynonymous SNV G30D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 279968 chr12 113416506 113416506 G C OAS2 Nonsynonymous SNV Q31H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 279969 chr18 25727748 25727748 C T rs17495042 CDH2 Nonsynonymous SNV A21T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 279970 chr22 37533773 37533773 G A rs781374953 IL2RB Nonsynonymous SNV R131C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 279971 chr18 30350259 30350259 G A rs371127442 KLHL14 Nonsynonymous SNV P99L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 279972 chr6 41774504 41774504 T C USP49 Nonsynonymous SNV Y73C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 279973 chr18 43262311 43262311 T C SLC14A2 Nonsynonymous SNV F864L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 279974 chr2 166756294 166756294 C T rs760903357 TTC21B Nonsynonymous SNV E952K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 279975 chr12 123661243 123661243 C T rs778646835 MPHOSPH9 Synonymous SNV S816S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.52 279976 chr6 43307696 43307696 T C ZNF318 Nonsynonymous SNV K1347R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 279977 chr12 123032058 123032058 T G rs191922047 KNTC1 Nonsynonymous SNV S305A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.572 279978 chr12 123345332 123345332 G A HIP1R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 279979 chr12 124887093 124887093 - TGT rs772381510 NCOR2 Q509_P510insQ 0 0.003 0 0 0 1 0 0 0 0 0 0 279980 chr10 31133938 31133939 CG - ZNF438 T813Sfs*12 0 0 0 3 0 0 0.008 0 0 0 0 0 279981 chr10 31133942 31133942 - TTTAAA ZNF438 Stop gain N812_K828delinsI 0 0 0 3 0 0 0.008 0 0 0 0 0 279982 chr12 124458568 124458568 - CAAATCCAAGAGACACATCTTTGGAAGA ZNF664, ZNF664-RFLNA 0.001 0 0 0 1 0 0 0 0 0 0 0 279983 chr21 30378938 30378938 G A rs77085757 RWDD2B Nonsynonymous SNV R254C 0 0 0 1 0 0 0.003 0 0 0 0 0 27 279984 chr6 47846683 47846683 A G PTCHD4 Nonsynonymous SNV S633P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 279985 chr6 49753783 49753783 C - rs751994592 PGK2 G373Vfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 279986 chr12 133358999 133358999 G A rs777559689 GOLGA3 Synonymous SNV H1116H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.553 279987 chr12 133359001 133359001 G T rs771300671 GOLGA3 Nonsynonymous SNV H1116N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 279988 chr12 132546837 132546837 G C rs200529645 EP400 Synonymous SNV P2689P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.223 279989 chr12 132549253 132549253 C T rs201541382 EP400 Nonsynonymous SNV P2792L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 279990 chr2 165600310 165600310 A C rs3765059 COBLL1 Synonymous SNV S39S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 279991 chr21 43519137 43519137 C T rs368444678 UMODL1 Nonsynonymous SNV R345W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 279992 chr13 38171349 38171349 A G rs562239340 POSTN Nonsynonymous SNV Y64H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 279993 chr2 179396766 179396766 C T rs68080670 TTN Nonsynonymous SNV R25794Q 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign/Likely benign 23.5 279994 chr2 179441386 179441386 G A rs67041405 TTN Synonymous SNV S14130S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Benign/Likely benign 5.719 279995 chr2 109087832 109087832 T C GCC2 Synonymous SNV L683L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 279996 chr2 179613642 179613642 A G rs749327373 TTN Synonymous SNV F4495F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 279997 chr13 39587757 39587757 G A rs368668535 PROSER1 Synonymous SNV P522P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.11 279998 chr13 33638046 33638046 C G rs200953302 KL Nonsynonymous SNV T921R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.824 279999 chr13 33638279 33638279 C A rs200295310 KL Nonsynonymous SNV L999I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.66 280000 chr2 183822316 183822316 G A NCKAP1 Synonymous SNV P630P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 280001 chr21 47737160 47737160 T A rs375920891 C21orf58 Nonsynonymous SNV N111I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 280002 chr13 52548125 52548125 C T rs886050308 ATP7B Nonsynonymous SNV E411K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 280003 chr6 109322501 109322501 A G rs151284724 SESN1 Nonsynonymous SNV I120T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.1 280004 chr21 47851916 47851916 G A rs146053975 PCNT Synonymous SNV T2846T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.918 280005 chr19 12734561 12734561 G A rs774048557 ZNF791 Synonymous SNV E17E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.175 280006 chr2 135872912 135872912 T G RAB3GAP1 Synonymous SNV T203T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.541 280007 chr19 13054559 13054559 C G rs151032910 CALR Nonsynonymous SNV D362E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 280008 chr2 202521082 202521082 C T rs774716027 MPP4 Nonsynonymous SNV R380H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 280009 chr2 136567476 136567476 C T LCT Nonsynonymous SNV R814Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 280010 chr6 114181101 114181101 G T rs760347613 MARCKS Nonsynonymous SNV E115D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 280011 chr19 14213645 14213645 G A PRKACA Nonsynonymous SNV L183F 0 0 0.003 0 0 0 0 1 0 0 0 0 26 280012 chr13 92101123 92101123 C T rs142381235 GPC5 Nonsynonymous SNV T91M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 280013 chr2 206921218 206921218 G A rs371646344 INO80D Nonsynonymous SNV A223V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 280014 chr6 117203532 117203532 A T rs151067974 RFX6 Synonymous SNV T169T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 280015 chr13 103387271 103387271 T C rs765537647 CCDC168 Nonsynonymous SNV Y5259C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.201 280016 chr13 111335479 111335479 T C rs150286306 CARS2 Nonsynonymous SNV N192D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.04 280017 chr19 16612236 16612236 A G rs143681756 C19orf44 Synonymous SNV P211P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.367 280018 chr2 160261595 160261595 A T rs201970014 BAZ2B Nonsynonymous SNV L867H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 280019 chr6 132649201 132649201 C A rs144409218 MOXD1 Synonymous SNV P299P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 280020 chr13 114321790 114321790 C G GRK1 Nonsynonymous SNV S30C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 280021 chr13 111130426 111130426 G A rs1034589988 COL4A2 Synonymous SNV L834L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.065 280022 chr13 114062198 114062198 C T rs1030355775 LOC101928841 Nonsynonymous SNV V103M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.251 280023 chr14 20665677 20665677 G A rs138827087 OR11G2 Synonymous SNV G61G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 280024 chr19 18119198 18119198 G A ARRDC2 Nonsynonymous SNV G27S 0 0 0.007 0 0 0 0 2 0 0 0 0 34 280025 chr14 21269843 21269843 G A rs372510186 RNASE1 Nonsynonymous SNV P129S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.443 280026 chr22 36718510 36718510 G A rs552295057 MYH9 Synonymous SNV N223N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.3 280027 chr2 176995145 176995145 - GCG HOXD8 A23_G24insA 0 0.005 0.007 1 0 2 0.003 2 0 1 0 0 280028 chr22 37771525 37771525 G A rs755148679 ELFN2 Nonsynonymous SNV P17L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.78 280029 chr14 22038377 22038377 G A rs61743458 OR10G3 Synonymous SNV L167L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.73 280030 chr2 179391800 179391800 C A rs397517478 TTN Nonsynonymous SNV S26907I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 280031 chr2 179401057 179401057 C T rs397517783 TTN Nonsynonymous SNV G24408S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 23.2 280032 chr14 24026028 24026028 G T rs1019293530 THTPA Nonsynonymous SNV R21L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 280033 chr12 3149629 3149629 G A rs538385819 TEAD4 Synonymous SNV R301R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 280034 chr22 39497487 39497487 G A rs138969085 APOBEC3H Synonymous SNV P132P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.686 280035 chr22 40283671 40283671 C T rs371281900 ENTHD1 Nonsynonymous SNV D28N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 280036 chr2 179482527 179482527 C T rs558671515 TTN Nonsynonymous SNV V6786I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.75 280037 chr2 179602924 179602924 C T rs755888927 TTN Synonymous SNV K4389K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.27 280038 chr10 123720938 123720938 C T rs772837863 NSMCE4A Synonymous SNV R313R 0 0 0 2 0 0 0.005 0 0 0 0 0 17.44 280039 chr2 231944866 231944866 A G PSMD1 Synonymous SNV K417K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.324 280040 chr2 232324919 232324919 G A rs144610202 NCL Synonymous SNV S328S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.82 280041 chr2 179648886 179648886 C T rs376768790 TTN Nonsynonymous SNV V850I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 280042 chr19 33792439 33792439 G A rs376093748 CEBPA Synonymous SNV I175I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.71 280043 chr2 183593704 183593704 A G rs376885680 DNAJC10 Nonsynonymous SNV I206V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 280044 chr2 234704848 234704848 C T rs536790313 MROH2A Nonsynonymous SNV R381C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 280045 chr19 36549720 36549720 C T rs370507238 WDR62 Synonymous SNV N72N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 280046 chr2 238451272 238451272 G A rs201166379 MLPH Synonymous SNV S383S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.825 280047 chr2 238725768 238725768 G A rs139616233 RBM44 Nonsynonymous SNV S70N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 280048 chr14 57945730 57945730 A G rs937195141 CCDC198 Synonymous SNV S144S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.039 280049 chr2 239344591 239344591 G A rs766226125 ASB1 Nonsynonymous SNV R144H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 280050 chr2 241888459 241888459 G A rs757158384 CROCC2 Synonymous SNV Q809Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.075 280051 chr2 208478012 208478012 G T rs143436302 METTL21A Nonsynonymous SNV L139M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 280052 chr10 135204828 135204828 T - PAOX C417Afs*43 0 0 0 2 0 0 0.005 0 0 0 0 0 280053 chr14 65205495 65205495 C T rs762714395 PLEKHG3 Synonymous SNV S480S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.89 280054 chr7 15427145 15427145 - A rs759729273 AGMO Frameshift insertion W282Mfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 280055 chr2 206058023 206058023 G A PARD3B Nonsynonymous SNV A645T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 280056 chr14 72943491 72943491 G A rs778129373 RGS6 Synonymous SNV P210P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.728 280057 chr2 207345985 207345985 G T rs765613816 ADAM23 Nonsynonymous SNV Q154H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 280058 chr7 20824043 20824043 - GCC rs752451137 SP8 G464_S465insG 0.001 0 0 0 1 0 0 0 0 0 0 0 280059 chr2 218940004 218940004 G C rs55688870 RUFY4 Nonsynonymous SNV Q263H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 280060 chr11 792454 792454 C T SLC25A22 Nonsynonymous SNV V198I 0 0 0 2 0 0 0.005 0 0 0 0 0 11.07 280061 chr19 42827930 42827930 C T rs147902081 TMEM145 Nonsynonymous SNV P478S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 280062 chr11 821961 821961 A G PNPLA2 Nonsynonymous SNV N142D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.3 280063 chr11 836786 836786 C T rs144204595 CD151 Synonymous SNV L98L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.308 280064 chr14 65054830 65054830 T C PPP1R36 Nonsynonymous SNV M300T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 280065 chr19 44278764 44278764 A C rs201220075 KCNN4 Nonsynonymous SNV M88R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 280066 chr2 220075710 220075710 - CA rs768523148 ABCB6 Frameshift insertion E651Wfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 280067 chr2 220161826 220161826 C T rs755871004 PTPRN Nonsynonymous SNV R677Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 280068 chr19 4446394 4446394 G A rs776268944 UBXN6 Nonsynonymous SNV R260W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 280069 chr14 69069380 69069380 G A rs534919944 RAD51B Nonsynonymous SNV G346D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.121 280070 chr2 33413907 33413907 A G LTBP1 Nonsynonymous SNV I238V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.322 280071 chr2 128471227 128471227 G A rs761156480 WDR33 Nonsynonymous SNV R1080C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 280072 chr2 131128829 131128829 G C rs144167090 PTPN18 Nonsynonymous SNV A221P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.71 280073 chr14 75388057 75388057 C T rs372803014 RPS6KL1 Nonsynonymous SNV R63H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 280074 chr2 44101570 44101570 A G rs150890296 ABCG8 Nonsynonymous SNV Y478C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 280075 chr11 1051804 1051804 C T rs534339942 LINC02688 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.137 280076 chr2 45879245 45879245 A G rs778702630 PRKCE Synonymous SNV V2V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.73 280077 chr2 47277118 47277118 G C TTC7A Nonsynonymous SNV E296D 0 0.003 0 0 0 1 0 0 0 0 0 0 3.725 280078 chr2 220399906 220399914 GGGCCCTGA - rs773354774 ASIC4 E474_P476del 0 0 0 1 0 0 0.003 0 0 0 0 0 280079 chr2 50724692 50724692 G A rs752920557 NRXN1 Synonymous SNV G849G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.5 280080 chr14 88407785 88407785 G A rs115018138 GALC Synonymous SNV F573F 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Benign 13.78 280081 chr14 99876545 99876545 T G rs142537059 SETD3 Nonsynonymous SNV E286A 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.456 280082 chr11 1858463 1858463 G A rs186919563 SYT8 Synonymous SNV P337P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.942 280083 chr11 2436497 2436497 C T rs200095671 TRPM5 Nonsynonymous SNV G445S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 7.238 280084 chr14 94089182 94089182 A G rs750918601 UNC79 Nonsynonymous SNV D1691G 0.002 0.005 0 0 2 2 0 0 0 0 0 0 21.3 280085 chr7 55249271 55249271 G C rs41498945 EGFR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.307 280086 chr14 103806805 103806805 T C rs772390386 EIF5 Synonymous SNV I371I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 280087 chr14 99865333 99865333 G A rs137957044 SETD3 Nonsynonymous SNV R490C 0.003 0 0 0 4 0 0 0 0 0 0 0 25.3 280088 chr7 73038801 73038801 G A rs557125342 MLXIPL Synonymous SNV L8L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 11.11 280089 chr2 73518614 73518614 A T rs749358284 EGR4 Nonsynonymous SNV S478T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.53 280090 chr14 101004535 101004535 C G rs780718553 BEGAIN Nonsynonymous SNV G518A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 280091 chr14 101005518 101005518 C T rs185162348 BEGAIN Synonymous SNV P190P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.253 280092 chr14 105957833 105957833 C T TEDC1 Nonsynonymous SNV R41C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280093 chr19 50105016 50105016 C T rs769955342 PRR12 Synonymous SNV P1538P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 280094 chr19 50365067 50365067 G T PNKP Synonymous SNV A420A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.78 280095 chr2 176804350 176804350 T C rs201848822 LNPK Nonsynonymous SNV I125V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 280096 chr2 176959229 176959229 C T rs1038624473 HOXD13 Nonsynonymous SNV P268L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 280097 chr19 50491741 50491741 G A rs775458931 VRK3 Nonsynonymous SNV R319C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 280098 chr2 97213155 97213155 G C rs1044203122 ARID5A Synonymous SNV G7G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.183 280099 chr15 33445964 33445964 C T rs769711018 FMN1 Synonymous SNV R384R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.086 280100 chr15 34553157 34553157 T C rs567323663 SLC12A6 Synonymous SNV E112E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 5.631 280101 chr11 5626653 5626653 G T rs201941845 TRIM6, TRIM6-TRIM34 Synonymous SNV L27L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.108 280102 chr11 5626659 5626659 G T rs200396157 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV K29N 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.7 280103 chr19 51843852 51843852 C A VSIG10L Nonsynonymous SNV A342S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.996 280104 chr7 97875382 97875382 T G rs369593510 TECPR1 Nonsynonymous SNV E26A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 280105 chr2 179590682 179590682 C T rs368422028 TTN Synonymous SNV P5545P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.74 280106 chr3 101572126 101572126 G A rs377101796 NFKBIZ Synonymous SNV E252E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.082 280107 chr3 10290889 10290889 C T rs765010479 TATDN2 Nonsynonymous SNV A2V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280108 chr2 25038514 25038514 G T rs141799599 CENPO Synonymous SNV L155L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.775 280109 chr19 52448384 52448384 T C rs145547900 ZNF613 Synonymous SNV L416L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.138 280110 chr3 111710287 111710287 G C rs142618838 ABHD10 Nonsynonymous SNV V214L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.007 280111 chr15 42839594 42839594 T C rs148009854 LRRC57 Synonymous SNV Q119Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.463 280112 chr15 42978186 42978186 C T rs369242363 STARD9 Synonymous SNV A1470A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.783 280113 chr3 113955320 113955320 C A ZNF80 Nonsynonymous SNV R201L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 280114 chr19 541399 541399 G A rs200901382 CDC34 Synonymous SNV T186T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.647 280115 chr15 45654379 45654379 G A GATM Synonymous SNV S400S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.09 280116 chr2 54127040 54127040 C T rs142064799 PSME4 Nonsynonymous SNV E1134K 0.002 0 0 0 2 0 0 0 0 0 0 0 22 280117 chr2 3447572 3447572 G T TRAPPC12 Nonsynonymous SNV M480I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 280118 chr19 54930443 54930443 G A rs150993074 TTYH1 Nonsynonymous SNV V90I 0 0 0.007 0 0 0 0 2 0 0 1 0 20.3 280119 chr19 55420628 55420628 C T rs142626797 NCR1 Nonsynonymous SNV S32L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 280120 chr2 42991286 42991286 G A OXER1 Nonsynonymous SNV P12S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 280121 chr19 55739624 55739624 T C rs148089024 TMEM86B Nonsynonymous SNV Q78R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.025 280122 chr3 123051483 123051483 C T rs758163702 ADCY5 Synonymous SNV A132A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.35 280123 chr11 16810728 16810728 - G PLEKHA7 Frameshift insertion R1091Pfs*33 0 0 0 2 0 0 0.005 0 0 0 0 0 280124 chr15 60741347 60741347 T C rs755230900 ICE2 Nonsynonymous SNV N470D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.065 280125 chr3 126153075 126153075 C T rs142219982 CFAP100 Synonymous SNV T493T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.72 280126 chr3 127336222 127336222 C T MCM2 Nonsynonymous SNV T625M 0.002 0 0 0 2 0 0 0 0 0 0 0 34 280127 chr7 102105230 102105230 C A ALKBH4 Nonsynonymous SNV K18N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 280128 chr15 54556370 54556370 A T rs557176265 UNC13C Synonymous SNV A1151A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.717 280129 chr3 12977013 12977013 C A IQSEC1 Synonymous SNV S501S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 280130 chr2 74531730 74531730 C T rs150889394 SLC4A5 Nonsynonymous SNV G53S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 280131 chr15 60690093 60690093 C T rs201864760 ANXA2 Nonsynonymous SNV G7E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 280132 chr3 133483723 133483723 C T rs142542411 TF Synonymous SNV S307S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 10.61 280133 chr2 8874833 8874833 C T KIDINS220 Synonymous SNV K1200K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 280134 chr19 58862973 58862973 A T A1BG Nonsynonymous SNV C232S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 280135 chr19 5896532 5896532 T C rs780379280 NDUFA11 Nonsynonymous SNV E82G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 280136 chr2 219507316 219507316 C T rs770480725 ZNF142 Nonsynonymous SNV R1308Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 280137 chr15 75230340 75230340 G A rs777234392 COX5A Nonsynonymous SNV L6F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.72 280138 chr15 75649018 75649018 G A rs768526490 MAN2C1 Nonsynonymous SNV A790V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 280139 chr12 132549215 132549215 A G rs145047910 EP400 Synonymous SNV E2779E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.564 280140 chr19 8551115 8551115 C T rs61742109 HNRNPM Synonymous SNV G466G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.06 280141 chr19 8563912 8563912 G T rs80155757 PRAM1 Nonsynonymous SNV S260R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.164 280142 chr2 228197306 228197306 - TGGCAGACTA MFF 0 0 0 1 0 0 0.003 0 0 0 0 0 280143 chr19 8587553 8587553 T C rs73922133 MYO1F Synonymous SNV T1001T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.318 280144 chr2 233323427 233323427 C T rs151002081 ALPI Synonymous SNV G423G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 280145 chr7 148768423 148768423 A C ZNF786 Nonsynonymous SNV F481V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 280146 chr3 10183593 10183593 A C rs1060503548 VHL Nonsynonymous SNV E21A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.56 280147 chr7 149576569 149576569 - AGTCTTCCC rs765037991 ATP6V0E2 Q155_P156insSSQ 0.001 0 0 0 1 0 0 0 0 0 0 0 280148 chr15 91306241 91306241 G A rs12720097 BLM Nonsynonymous SNV R643H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.58 280149 chr3 11064023 11064023 C T rs769934894 SLC6A1 Nonsynonymous SNV R17C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 280150 chr3 112256644 112256644 G A rs1007213426 ATG3 Nonsynonymous SNV L202F 0 0 0 1 0 0 0.003 0 0 0 0 0 24 280151 chr7 150779447 150779447 C T rs137941603 TMUB1 Synonymous SNV G68G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.143 280152 chr3 113342379 113342379 G A rs747379069 SIDT1 Synonymous SNV K675K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.58 280153 chr15 90293904 90293909 GCCCCT - rs755963854 MESP1 Q185_G186del 0.001 0 0 0 1 0 0 0 0 0 0 0 280154 chr15 90794789 90794789 A G TTLL13P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 280155 chr3 193332684 193332684 C G rs750775588 OPA1 Nonsynonymous SNV P69A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.91 280156 chr15 100252630 100252630 C G rs1056672385 MEF2A Nonsynonymous SNV S315C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 280157 chr16 1143519 1143519 C T C1QTNF8 Synonymous SNV K247K 0 0.003 0 0 0 1 0 0 0 0 0 0 7.42 280158 chr3 121643827 121643827 G A rs199522806 SLC15A2 Synonymous SNV P326P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.43 280159 chr2 26798809 26798809 C T rs567506070 FAM166C Nonsynonymous SNV R26C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 280160 chr13 99083441 99083441 C T rs370311912 FARP1 Nonsynonymous SNV R684W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 280161 chr13 99092946 99092946 G A rs367927430 FARP1 Synonymous SNV A884A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 280162 chr3 122288145 122288145 T G rs142647416 DTX3L Stop gain Y403X 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 280163 chr3 195965653 195965653 G A rs148500335 PCYT1A Nonsynonymous SNV P337L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 31 280164 chr15 101608907 101608907 G A rs200845343 LRRK1 Nonsynonymous SNV D1968N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 280165 chr3 196387821 196387821 A G NRROS Nonsynonymous SNV N436S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 280166 chr1 114523098 114523098 G A OLFML3 Nonsynonymous SNV V26M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 280167 chr3 124578134 124578134 C T rs201900103 ITGB5 Nonsynonymous SNV V106I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 280168 chr3 126708114 126708114 A C rs747397558 PLXNA1 Synonymous SNV S226S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 280169 chr3 35778821 35778821 G A rs200209237 ARPP21 Synonymous SNV P483P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.51 280170 chr3 37365316 37365316 G A GOLGA4 Nonsynonymous SNV E647K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 280171 chr3 37476583 37476583 G A rs115914072 C3orf35 Nonsynonymous SNV A159T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.8 280172 chr1 120438173 120438173 G A rs200088734 ADAM30 Nonsynonymous SNV R263C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 280173 chr16 2580322 2580322 G A rs745655515 AMDHD2 Synonymous SNV V449V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.376 280174 chr16 2979914 2979914 C T rs183328490 FLYWCH1 Synonymous SNV L76L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.95 280175 chr16 2816731 2816731 T G rs147957204 SRRM2 Nonsynonymous SNV L2068V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.793 280176 chr1 150939281 150939281 C T rs149992226 CERS2 Nonsynonymous SNV V267I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.12 280177 chr3 43122847 43122847 C T rs143667339 POMGNT2 Nonsynonymous SNV R26H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 280178 chr1 151134362 151134362 C T rs77292984 LYSMD1 Nonsynonymous SNV R84H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.399 280179 chr1 151214701 151214701 G C PIP5K1A Nonsynonymous SNV G449A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 280180 chr1 151497346 151497346 T C CGN Nonsynonymous SNV M533T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 280181 chr3 44611913 44611913 A G rs761305742 ZKSCAN7 Synonymous SNV K286K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.819 280182 chr1 152733395 152733395 C T rs75836464 KPRP Nonsynonymous SNV P444L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 280183 chr16 5081752 5081752 C G rs200736428 NAGPA Nonsynonymous SNV E226Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 280184 chr16 3708220 3708220 G A rs138865792 TRAP1 Synonymous SNV N622N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.449 280185 chr3 45779303 45779303 C T rs769462161 SACM1L Nonsynonymous SNV A389V 0.001 0 0 0 1 0 0 0 0 0 0 0 35 280186 chr8 30705100 30705103 TCTA - rs546097481 TEX15 D860Efs*15 0.002 0 0.003 0 2 0 0 1 0 0 0 0 280187 chr16 4638216 4638216 G A C16orf96 Nonsynonymous SNV E826K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 280188 chr3 1427481 1427481 C T rs140337334 CNTN6 Nonsynonymous SNV P798S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 31 280189 chr14 23855323 23855323 C T MYH6 Synonymous SNV L1659L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 280190 chr14 24033856 24033856 G A rs972167499 AP1G2 Nonsynonymous SNV T207M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 280191 chr3 47459841 47459841 G A rs1033297853 SCAP Synonymous SNV I512I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 280192 chr3 48613682 48613682 C T rs200972872 COL7A1 Synonymous SNV P1940P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.586 280193 chr8 59409601 59409601 A G rs752449158 CYP7A1 Nonsynonymous SNV V157A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 280194 chr3 49065217 49065217 G A rs369552560 IMPDH2 Nonsynonymous SNV R153C 0 0.005 0 0 0 2 0 0 0 0 0 0 34 280195 chr16 15761248 15761248 C G NDE1 Nonsynonymous SNV D63E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 280196 chr16 16208631 16208631 G A rs778463333 ABCC1 Nonsynonymous SNV V1030M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 280197 chr1 15755163 15755163 G A rs749841289 EFHD2 Synonymous SNV A222A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 280198 chr16 16228317 16228317 C G rs745766685 ABCC1 Synonymous SNV A1359A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 280199 chr3 158311208 158311208 G C rs747034048 MLF1 Nonsynonymous SNV G78A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 280200 chr16 17232447 17232447 G T rs1003675866 LOC102723692 0.001 0 0 0 1 0 0 0 0 0 0 0 1.545 280201 chr3 189689796 189689796 C A rs760338105 P3H2 Nonsynonymous SNV G386V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 280202 chr8 70978724 70978724 T C rs750694727 PRDM14 Nonsynonymous SNV H310R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.507 280203 chr3 51743379 51743379 C T rs764682062 GRM2 Nonsynonymous SNV A127V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 280204 chr16 19725956 19725956 G A rs367676691 KNOP1 Synonymous SNV D134D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.387 280205 chr16 21261120 21261120 C G ANKS4B Nonsynonymous SNV A78G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 280206 chr16 24202451 24202451 C A rs35631544 PRKCB Nonsynonymous SNV P588H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 280207 chr8 101251526 101251526 T C rs746832645 SPAG1 Nonsynonymous SNV I725T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 280208 chr3 56675453 56675453 A G rs749765135 TASOR Nonsynonymous SNV V452A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 280209 chr3 56680809 56680809 A G rs762613863 TASOR Synonymous SNV F256F 0 0.003 0 0 0 1 0 0 0 0 0 0 3.517 280210 chr16 28970159 28970159 A G NFATC2IP Nonsynonymous SNV K323R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 280211 chr3 62189304 62189304 C T rs749104748 PTPRG Nonsynonymous SNV T612I 0.002 0 0 0 2 0 0 0 0 0 0 0 9.764 280212 chr1 167095481 167095481 C T rs146957255 DUSP27 Synonymous SNV G371G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.502 280213 chr16 31097663 31097664 AG - rs780276626 PRSS53 C220Sfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 280214 chr1 169138705 169138705 G A NME7 Nonsynonymous SNV P360S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 280215 chr1 171753149 171753149 G A EEF1AKNMT Synonymous SNV R141R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.76 280216 chr3 98188879 98188879 C T rs372640322 OR5K1 Synonymous SNV N153N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.028 280217 chr16 67039258 67039258 T G rs899761518 CES4A Nonsynonymous SNV F328C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 280218 chr16 67265143 67265147 GGCCG - FHOD1 Stop gain R871* 0 0.003 0 0 0 1 0 0 0 0 0 0 280219 chr16 67964342 67964342 G A rs958005816 CTRL Synonymous SNV V156V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 280220 chr16 57180057 57180057 C G rs760658821 CPNE2 Nonsynonymous SNV H455D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 280221 chr16 57788903 57788903 G A rs143115475 KATNB1 Synonymous SNV V430V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.104 280222 chr11 102815039 102815039 G A rs142064825 MMP13 Nonsynonymous SNV R458C 0 0.003 0 3 0 1 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 280223 chr1 177911150 177911150 C T rs149895580 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV R295H 0 0 0.007 0 0 0 0 2 0 0 0 0 35 280224 chr4 1018748 1018748 G A rs997527849 FGFRL1 Synonymous SNV P376P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 280225 chr16 58077155 58077155 G A MMP15 Nonsynonymous SNV G449S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 280226 chr1 178514536 178514536 C T C1orf220 0 0 0.003 0 0 0 0 1 0 0 0 0 8.834 280227 chr16 67697137 67697137 C T rs142866742 ENKD1 Nonsynonymous SNV R323Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 280228 chr16 68404805 68404805 C T rs778492516 SMPD3 Nonsynonymous SNV C427Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.265 280229 chr16 78149048 78149048 A G rs193027041 WWOX Nonsynonymous SNV I23V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 23.1 280230 chr1 183085942 183085942 C T rs140499388 LAMC1 Nonsynonymous SNV R490W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 280231 chr16 70506920 70506920 G A rs754447175 FCSK Nonsynonymous SNV A481T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.349 280232 chr1 183522184 183522184 G A rs532722674 SMG7 Nonsynonymous SNV V1129I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 280233 chr14 90650617 90650617 G A rs144597895 KCNK13 Nonsynonymous SNV R166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 280234 chr3 4714902 4714902 G A ITPR1 Nonsynonymous SNV D748N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 280235 chr3 36779123 36779123 C T rs756277470 DCLK3 Nonsynonymous SNV R343Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 280236 chr3 37458933 37458933 A G rs774554578 C3orf35 Nonsynonymous SNV Q59R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.54 280237 chr3 38181431 38181431 C A MYD88 Nonsynonymous SNV D135E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.59 280238 chr4 13601182 13601182 C G rs139979424 BOD1L1 Nonsynonymous SNV G2448R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 280239 chr1 201009025 201009025 C T rs746057386 CACNA1S Synonymous SNV G1852G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.088 280240 chr16 84075761 84075761 A G SLC38A8 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23 280241 chr4 147628705 147628705 - A rs754193998 TTC29 0.001 0 0 0 1 0 0 0 0 0 0 0 280242 chr16 88804353 88804353 G A rs556220156 PIEZO1 Nonsynonymous SNV P337S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.969 280243 chr8 145698761 145698761 C T KIFC2 Synonymous SNV A815A 0.001 0 0 0 1 0 0 0 0 0 0 0 11 280244 chr1 201752816 201752816 C T NAV1 Synonymous SNV G489G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 280245 chr3 133331243 133331243 T C rs374516381 TOPBP1 Nonsynonymous SNV H1337R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.243 280246 chr3 42569500 42569500 G A rs201431086 VIPR1 Nonsynonymous SNV R126Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 280247 chr3 133672574 133672574 C T rs149443780 SLCO2A1 Synonymous SNV P219P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 18.59 280248 chr3 135745766 135745766 T C rs35279847 PPP2R3A Synonymous SNV H75H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.075 280249 chr3 135745810 135745810 G A rs35250006 PPP2R3A Nonsynonymous SNV R90Q 0.003 0 0 1 3 0 0.003 0 0 0 0 0 21.1 280250 chr16 89351508 89351508 G A rs755705692 ANKRD11 Nonsynonymous SNV S481L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 280251 chr9 6602168 6602168 G A GLDC Stop gain Q366X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 280252 chr3 138669148 138669148 C T rs768279723 FOXL2NB Nonsynonymous SNV R88W 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.07 280253 chr16 88501995 88501995 C T rs999315157 ZNF469 Nonsynonymous SNV A2706V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.772 280254 chr1 207975060 207975060 A T rs147139948 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 280255 chr1 207990630 207990630 C A rs182461545 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 280256 chr1 214510055 214510055 A T rs375564784 SMYD2 Synonymous SNV A410A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.204 280257 chr9 35813690 35813690 C T rs747136493 HINT2 Nonsynonymous SNV R58Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 280258 chr4 184367432 184367432 C A CDKN2AIP Nonsynonymous SNV Q199K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 280259 chr1 21937954 21937954 G A rs201554924 RAP1GAP Synonymous SNV D342D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.22 280260 chr4 184431719 184431719 C T rs758484286 ING2 Nonsynonymous SNV R113C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 280261 chr17 3626994 3626994 G A rs145556426 ITGAE Synonymous SNV Y1043Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.571 280262 chr9 36170694 36170694 C T rs142836285 CCIN Nonsynonymous SNV R399W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 280263 chr9 36674928 36674928 A G rs199547857 MELK Nonsynonymous SNV Q460R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 280264 chr17 650277 650277 G A rs186893279 GEMIN4 Nonsynonymous SNV R336C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.669 280265 chr3 164908111 164908111 G A rs755352126 SLITRK3 Nonsynonymous SNV R170W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 280266 chr17 650338 650338 C T rs375616543 GEMIN4 Synonymous SNV V315V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.181 280267 chr3 52391928 52391928 C G DNAH1 Stop gain S1332X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 280268 chr17 1630978 1630978 C G rs928905804 WDR81 Nonsynonymous SNV L909V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 280269 chr17 2604528 2604528 C A rs200340260 CLUH Nonsynonymous SNV A311S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 280270 chr9 78947497 78947498 AA - PCSK5 K1547Rfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 280271 chr4 2691285 2691285 A G rs150389576 FAM193A Nonsynonymous SNV N504S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.415 280272 chr3 57317292 57317292 A G rs774716466 ASB14 Synonymous SNV Y215Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.295 280273 chr4 3076625 3076630 CAGCAG - HTT Q37_Q38del 0 0.003 0 0 0 1 0 0 0 0 0 0 280274 chr1 227182533 227182533 A T CDC42BPA Nonsynonymous SNV F1645L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.434 280275 chr1 228290605 228290605 G A rs755448573 C1orf35 Synonymous SNV A80A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 280276 chr1 228402696 228402696 C T rs374799747 OBSCN Synonymous SNV T575T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 280277 chr3 184072352 184072352 C T rs138627624 CLCN2 Synonymous SNV G453G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Likely benign 15.41 280278 chr15 43363053 43363053 T A rs149864087 UBR1 Nonsynonymous SNV Y200F 0.001 0 0 0 1 0 0 0 0 0 0 0 28 280279 chr3 7494298 7494298 G A rs34067965 GRM7 Synonymous SNV Q393Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 6.717 280280 chr3 9074342 9074342 A G rs76840093 SRGAP3 Nonsynonymous SNV F511L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 280281 chr4 38907444 38907444 G C FAM114A1 Nonsynonymous SNV G80R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 280282 chr1 228559299 228559299 C T rs141555426 OBSCN Synonymous SNV A6940A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.51 280283 chr9 98703810 98703810 A G rs200972525 ERCC6L2 Nonsynonymous SNV N609S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 280284 chr4 40823918 40823918 G A rs548111352 APBB2 Synonymous SNV N145N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.862 280285 chr17 7637978 7637978 C T DNAH2 Synonymous SNV A310A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.37 280286 chr1 231472514 231472514 C T rs200538583 EXOC8 Synonymous SNV E326E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.949 280287 chr4 44682802 44682802 A G GUF1 Synonymous SNV A123A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.74 280288 chr4 48559130 48559130 G A rs781272929 FRYL Synonymous SNV G1377G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.748 280289 chr15 56388377 56388377 C T rs542838874 RFX7 Nonsynonymous SNV V420M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 280290 chr17 7352041 7352041 G A rs751045224 CHRNB1 Nonsynonymous SNV V252I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.22 280291 chr15 59515388 59515388 G A rs764092322 MYO1E Synonymous SNV H260H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.08 280292 chr3 25832671 25832671 C T OXSM Nonsynonymous SNV P54S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 280293 chr3 31665352 31665352 G A STT3B Nonsynonymous SNV G576S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 280294 chr3 33135133 33135133 C T rs372873177 TMPPE Synonymous SNV A185A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.242 280295 chr17 17409586 17409586 G A rs1055292388 PEMT Nonsynonymous SNV T181M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 280296 chr1 247978479 247978479 T C rs768354012 OR14A16 Nonsynonymous SNV I185V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 280297 chr3 37067449 37067449 G C rs63750527 MLH1 Nonsynonymous SNV G96R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.504 280298 chr17 18022135 18022135 G A rs750512324 MYO15A Synonymous SNV E7E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.718 280299 chr17 10590087 10590087 A C SCO1 Nonsynonymous SNV V243G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 280300 chr1 248097100 248097100 T C rs79168188 OR2AJ1 Synonymous SNV S11S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 280301 chr3 39226336 39226336 G A rs145034699 XIRP1 Nonsynonymous SNV T217M 0 0 0 1 0 0 0.003 0 0 0 0 0 17.94 280302 chr4 76836093 76836093 C T NAAA Synonymous SNV K348K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 280303 chr4 77053804 77053804 G A rs199836646 NUP54 Nonsynonymous SNV T212M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 280304 chr4 77230712 77230712 G C rs116711386 STBD1 Nonsynonymous SNV W212C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 280305 chr1 248756234 248756234 G A OR2T10 Nonsynonymous SNV T279I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 280306 chr3 42251326 42251326 G A TRAK1 Synonymous SNV R530R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.77 280307 chr17 18145527 18145527 C T rs150245335 LLGL1 Nonsynonymous SNV P977L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 280308 chr17 19250452 19250452 C T B9D1 Synonymous SNV X154X 0.001 0 0 0 1 0 0 0 0 0 0 0 6.784 280309 chr12 52966281 52966281 C T rs772751843 KRT74 Synonymous SNV S214S 0 0 0 2 0 0 0.005 0 0 0 0 0 16.89 280310 chr17 26727646 26727646 G T SLC46A1 Synonymous SNV L406L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.599 280311 chr1 29631936 29631936 T C rs763576226 PTPRU Nonsynonymous SNV I939T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 280312 chr17 27857571 27857571 C A TAOK1 Synonymous SNV T617T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.94 280313 chr17 29844830 29844830 G A rs78350609 RAB11FIP4 Synonymous SNV E64E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.97 280314 chr17 30315513 30315513 A G rs774753677 SUZ12 Nonsynonymous SNV I377V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 280315 chr1 34076714 34076714 C T rs545062582 CSMD2 Synonymous SNV T2090T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.41 280316 chr1 34663192 34663192 A G rs377717092 C1orf94 Synonymous SNV L229L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 280317 chr3 48618016 48618016 T C rs774874528 COL7A1 Nonsynonymous SNV N1684D 0.001 0 0 2 1 0 0.005 0 0 0 0 0 13.32 280318 chr1 35579448 35579448 A C ZMYM1 Nonsynonymous SNV I598L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 280319 chr1 36028812 36028812 G A rs115546115 NCDN Synonymous SNV L448L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 280320 chr17 27416993 27416993 C T MYO18A Nonsynonymous SNV V1801M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26 280321 chr1 39549951 39549951 C T rs141313177 MACF1 Nonsynonymous SNV R21W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 280322 chr3 49947863 49947863 C G rs374746320 MON1A Synonymous SNV S291S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.13 280323 chr3 50212554 50212554 C T rs374979219 SEMA3F Nonsynonymous SNV A161V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.87 280324 chr17 33801989 33801989 G A rs966521488 SLFN12L Nonsynonymous SNV R574C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 280325 chr5 115336914 115336914 A G rs139723999 LVRN Nonsynonymous SNV N600D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.27 280326 chr5 126113488 126113488 G T rs189717541 LMNB1 Synonymous SNV T96T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.9 280327 chr17 37576154 37576154 C A rs138920788 MED1 Nonsynonymous SNV Q371H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22 280328 chr1 46812663 46812663 G A rs375507367 NSUN4 Nonsynonymous SNV G121S 0 0 0.003 0 0 0 0 1 0 0 0 0 22 280329 chr4 187541684 187541684 G C FAT1 Nonsynonymous SNV P2019R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 280330 chr3 57323133 57323133 G A rs747613144 ASB14 Synonymous SNV S47S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.295 280331 chr3 64532433 64532433 C A rs140269259 ADAMTS9 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 280332 chr3 69087850 69087850 T C rs377447363 TMF1 Synonymous SNV K675K 0 0 0 1 0 0 0.003 0 0 0 0 0 6.167 280333 chr5 139494573 139494573 C T rs760453180 PURA Synonymous SNV H269H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.996 280334 chr10 1066787 1066787 G - rs55836842 IDI2 L96Wfs*9 0.002 0 0 0 2 0 0 0 0 0 0 0 280335 chr1 63052230 63052230 A G DOCK7 Nonsynonymous SNV I583T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 280336 chr5 140307618 140307622 AGTGC - rs782031018 PCDHAC1 S381Rfs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 280337 chr1 67205121 67205121 A T rs373637788 SGIP1 Nonsynonymous SNV D515V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 280338 chr4 100048407 100048407 G A rs778559919 ADH4 Nonsynonymous SNV P311L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 280339 chr17 47302460 47302460 G C PHOSPHO1 Synonymous SNV P9P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.315 280340 chr1 78195613 78195613 C G rs775455044 USP33 Nonsynonymous SNV V217L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 280341 chr1 8421495 8421495 C G RERE Nonsynonymous SNV R137P 0 0 0.003 0 0 0 0 1 0 0 0 0 34 280342 chr17 54450163 54450163 G A rs752022371 ANKFN1 Nonsynonymous SNV R256Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 280343 chr17 45993777 45993777 A C rs370407425 SP2 Nonsynonymous SNV I114L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 280344 chr1 85097395 85097395 C T rs528897981 LINC01555 0 0 0.003 0 0 0 0 1 0 0 0 0 8.615 280345 chr17 56247650 56247650 T C rs202228770 OR4D2 Nonsynonymous SNV F212L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 280346 chr5 148712359 148712359 G A AFAP1L1 Nonsynonymous SNV V660M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 280347 chr17 56345258 56345258 G A rs536207857 LPO Nonsynonymous SNV R598Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.326 280348 chr17 57272713 57272713 C T rs751145711 PRR11 Nonsynonymous SNV R256W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 280349 chr4 62813968 62813968 G A rs761911542 ADGRL3 Nonsynonymous SNV V841I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 280350 chr1 8938918 8938918 G C rs764838830 ENO1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.375 280351 chr5 150885386 150885386 C T rs372212910 FAT2 Nonsynonymous SNV V4264I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.15 280352 chr4 122739201 122739201 T C CCNA2 Synonymous SNV S416S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 280353 chr12 120995091 120995091 T C RNF10 Nonsynonymous SNV C218R 0 0 0 2 0 0 0.005 0 0 0 0 0 12.9 280354 chr1 92643389 92643389 C T rs543312948 KIAA1107 Nonsynonymous SNV S279L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 280355 chr17 55183384 55183384 G T AKAP1 Nonsynonymous SNV A187S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 280356 chr1 94466628 94466628 G A rs61750648 ABCA4 Nonsynonymous SNV R2106C 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 34 280357 chr5 113798866 113798866 C G KCNN2 Synonymous SNV V26V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 280358 chr5 158588391 158588391 C T rs148822006 RNF145 Synonymous SNV Q533Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.353 280359 chr5 169689852 169689852 G A rs369378243 LCP2 Nonsynonymous SNV A271V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.214 280360 chr17 67537847 67537847 A G MAP2K6 Nonsynonymous SNV K264E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 280361 chr5 178506037 178506037 G T rs749570881 ZNF354C Nonsynonymous SNV D202Y 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 280362 chr17 73916166 73916166 C T rs760441571 FBF1 Nonsynonymous SNV R618Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 280363 chr17 73922167 73922167 G C rs201197761 FBF1 Nonsynonymous SNV P271R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 280364 chr17 72815893 72815893 T C TMEM104 Nonsynonymous SNV I214T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 280365 chr10 64005782 64005782 A G rs749456281 RTKN2 Nonsynonymous SNV C98R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 280366 chr17 73494773 73494773 A G TMEM94 Nonsynonymous SNV N1276S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 280367 chr4 184210655 184210655 A G rs149738870 WWC2 Nonsynonymous SNV N1084S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 23 280368 chr5 101834486 101834486 C T SLCO6A1 Synonymous SNV P21P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.05 280369 chr5 112176507 112176507 A T APC Nonsynonymous SNV K1721M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.6 280370 chr10 79742506 79742506 C G rs372587661 POLR3A Nonsynonymous SNV V1167L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 280371 chr10 81318748 81318748 C T rs2434114 SFTPA2 Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.519 280372 chr17 79826390 79826390 C A rs761416911 ARHGDIA Nonsynonymous SNV G289C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.63 280373 chr5 118728748 118728748 A G rs999789131 TNFAIP8 Nonsynonymous SNV Q80R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 280374 chr17 79984802 79984802 G A rs745322891 LRRC45 Nonsynonymous SNV R230Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.29 280375 chr18 675357 675357 G A rs748359200 ENOSF1 Synonymous SNV P369P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.07 280376 chr5 6604329 6604329 C T rs2303708 NSUN2 Nonsynonymous SNV V592I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.68 280377 chr20 55028128 55028128 G A rs142247733 CASS4 Synonymous SNV R578R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 280378 chr20 55052111 55052111 A G rs145146822 RTF2 Nonsynonymous SNV K110R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 280379 chr18 7012111 7012111 G A rs150019331 LAMA1 Synonymous SNV N1130N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 5.624 280380 chr18 8718624 8718624 G A rs139379863 MTCL1 Nonsynonymous SNV R59Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 280381 chr17 80402350 80402350 G A rs139347006 CYBC1 Nonsynonymous SNV T125M 0.001 0 0 0 1 0 0 0 0 0 0 0 30 280382 chr5 6605499 6605499 A C NSUN2 Nonsynonymous SNV S507A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.562 280383 chr5 78076400 78076400 G A ARSB Synonymous SNV L474L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.07 280384 chr18 20562269 20562269 G A rs372640326 RBBP8 Nonsynonymous SNV V173I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.033 280385 chr18 28971140 28971140 G A rs776703259 DSG4 Nonsynonymous SNV V262I 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 280386 chr10 103339487 103339487 C T rs200705693 POLL Nonsynonymous SNV R209Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 280387 chr5 79974892 79974892 C G rs61749609 MSH3 Nonsynonymous SNV I440M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 280388 chr18 13741525 13741525 A G rs749682519 RNMT Nonsynonymous SNV K270R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 280389 chr18 43531136 43531136 T C EPG5 Nonsynonymous SNV M441V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 280390 chr18 25573594 25573594 T G rs376933549 CDH2 Nonsynonymous SNV Q312P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 280391 chr5 98109848 98109848 T C rs978754868 RGMB Nonsynonymous SNV L25P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.446 280392 chr18 35145499 35145499 A T CELF4 Nonsynonymous SNV L36I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 280393 chr6 108204320 108204322 CTT - rs752018806 SEC63 E568del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 280394 chr21 36259336 36259336 A T rs200431130 RUNX1 Nonsynonymous SNV M25K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28 280395 chr18 60191100 60191100 C G ZCCHC2 Nonsynonymous SNV S148W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 280396 chr6 109774948 109774948 G A rs747384815 MICAL1 Nonsynonymous SNV S120F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.9 280397 chr5 153407720 153407720 T C rs141421700 FAM114A2 Nonsynonymous SNV T137A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 280398 chr5 492035 492035 G A rs769744437 SLC9A3 Synonymous SNV P121P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 280399 chr6 117232111 117232111 G A rs188277006 RFX6 Nonsynonymous SNV R229H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280400 chr18 72228135 72228135 C T rs141725523 CNDP1 Synonymous SNV A116A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.29 280401 chr18 72913435 72913435 T A rs372819128 ZADH2 Nonsynonymous SNV Y234F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.25 280402 chr6 118475728 118475728 C T SLC35F1 Synonymous SNV F98F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.34 280403 chr4 87593537 87593537 T C rs776427637 PTPN13 Synonymous SNV A45A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.012 280404 chr21 43639381 43639381 T C rs144415936 ABCG1 Synonymous SNV C3C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.71 280405 chr4 88243935 88243935 T C HSD17B13 Nonsynonymous SNV E20G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 280406 chr5 55407551 55407551 G A rs147414262 ANKRD55 Nonsynonymous SNV R342W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 280407 chr5 55472070 55472070 G A rs144108986 ANKRD55 Nonsynonymous SNV A74V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 280408 chr21 44836830 44836830 T C SIK1, SIK1B Nonsynonymous SNV Q715R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 280409 chr21 44839805 44839805 G C SIK1, SIK1B Synonymous SNV A351A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.286 280410 chr4 94411869 94411869 A G rs760013146 GRID2 Synonymous SNV S551S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.679 280411 chr18 61647080 61647080 T A SERPINB8 Nonsynonymous SNV S72T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.156 280412 chr5 176072390 176072390 A T rs974918867 EIF4E1B Nonsynonymous SNV I163F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.8 280413 chr19 1046348 1046348 A T rs1025701348 ABCA7 Nonsynonymous SNV N522I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 280414 chr21 47551923 47551923 C T rs113002150 COL6A2 Synonymous SNV D839D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.94 280415 chr21 47703733 47703733 C T rs139966669 MCM3AP Synonymous SNV P413P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.584 280416 chr5 179269057 179269057 G A rs778846074 MRNIP Nonsynonymous SNV S45L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.187 280417 chr11 695686 695686 G C TMEM80 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 280418 chr19 643488 643488 C T rs778678657 FGF22 Nonsynonymous SNV A125V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 280419 chr11 722427 722427 C G EPS8L2 Nonsynonymous SNV D362E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 280420 chr19 685878 685878 G C PRSS57 Synonymous SNV G229G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.32 280421 chr6 147684478 147684478 A G rs757885363 STXBP5 Nonsynonymous SNV I815M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 280422 chr19 1828442 1828442 T C REXO1 Nonsynonymous SNV T116A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 280423 chr6 149795543 149795543 C T rs375412330 ZC3H12D Nonsynonymous SNV R46H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 280424 chr22 19006003 19006003 G A rs776021707 DGCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 3.934 280425 chr19 3013813 3013813 G A TLE2 Stop gain Q121X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 280426 chr5 35691254 35691254 G C SPEF2 Nonsynonymous SNV R547P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.698 280427 chr5 3599996 3599996 G C rs763796168 IRX1 Nonsynonymous SNV G312R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.224 280428 chr19 4859896 4859896 G A rs757295388 PLIN3 Synonymous SNV T69T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.269 280429 chr14 73729427 73729427 C T PAPLN Nonsynonymous SNV T872I 0 0 0 3 0 0 0.008 0 0 0 0 0 1.309 280430 chr11 1026446 1026446 G T MUC6 Stop gain C809X 0.001 0 0 0 1 0 0 0 0 0 0 0 30 280431 chr6 16327933 16327933 C A rs199744696 ATXN1 Nonsynonymous SNV Q203H 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 5.819 280432 chr22 32111628 32111628 A C PRR14L Nonsynonymous SNV L733V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.694 280433 chr6 167438292 167438292 G C rs34544438 FGFR1OP Nonsynonymous SNV A230P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.268 280434 chr6 167752237 167752237 A C rs143339181 TTLL2 Synonymous SNV A50A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 280435 chr5 59189111 59189111 C T rs370095823 PDE4D Synonymous SNV E113E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.33 280436 chr19 7584861 7584861 G C ZNF358 Nonsynonymous SNV G245R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 280437 chr19 5456383 5456383 G T ZNRF4 Nonsynonymous SNV C294F 0.002 0 0 0 2 0 0 0 0 0 0 0 5.665 280438 chr22 39035726 39035726 T C rs371485099 FAM227A Nonsynonymous SNV I77V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 280439 chr19 6467589 6467589 T G rs73920676 DENND1C Nonsynonymous SNV T734P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.429 280440 chr19 6467980 6467980 G A rs35290240 DENND1C Synonymous SNV S603S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.47 280441 chr5 145239434 145239434 C T rs139847108 GRXCR2 Synonymous SNV S203S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.57 280442 chr22 43735201 43735201 G C SCUBE1 Nonsynonymous SNV D43E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 280443 chr14 95574253 95574253 C T rs149242330 DICER1 Nonsynonymous SNV A872T 0 0 0.003 3 0 0 0.008 1 0 0 0 0 Benign/Likely benign 25.4 280444 chr19 7960509 7960509 C A LRRC8E Nonsynonymous SNV F7L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 280445 chr19 7975658 7975658 C T rs117765980 MAP2K7 Synonymous SNV P215P 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 Benign 18.53 280446 chr22 45691474 45691474 C T rs561638516 UPK3A Synonymous SNV H125H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 280447 chr5 150922281 150922281 T C FAT2 Nonsynonymous SNV K2803E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.883 280448 chr5 151179467 151179467 G A rs755792700 G3BP1 Synonymous SNV K287K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.49 280449 chr22 47308056 47308056 C G TBC1D22A Nonsynonymous SNV F251L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 280450 chr6 145161929 145161929 G C rs904575343 UTRN Nonsynonymous SNV V3411L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 280451 chr6 38877490 38877490 T C rs141147863 DNAH8 Nonsynonymous SNV V3020A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 28.5 280452 chr5 153783759 153783759 C T rs375962217 GALNT10 Synonymous SNV V384V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.06 280453 chr6 39285666 39285666 A C rs749310698 KCNK16 Nonsynonymous SNV L131V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.666 280454 chr19 9067296 9067296 A T MUC16 Nonsynonymous SNV V6717E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 280455 chr6 39877617 39877617 A G rs143912353 MOCS1 Nonsynonymous SNV I268T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 22.9 280456 chr5 160034041 160034041 C T rs201819244 ATP10B Nonsynonymous SNV R964H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 280457 chr6 43168436 43168436 G A rs142163288 CUL9 Nonsynonymous SNV E1171K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 280458 chr6 36823684 36823684 T C PPIL1 Nonsynonymous SNV I136V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 280459 chr2 102626208 102626208 A G rs143906708 IL1R2 Synonymous SNV T84T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.115 280460 chr19 10265127 10265127 T G rs144567470 DNMT1 Synonymous SNV R605R 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Likely benign 4.632 280461 chr2 108875557 108875557 C T rs202034318 SULT1C3 Nonsynonymous SNV P253S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.748 280462 chr15 40660771 40660771 C G rs779179441 DISP2 Nonsynonymous SNV R820G 0 0 0 2 0 0 0.005 0 0 0 0 0 23 280463 chr15 41191573 41191573 C T rs750271741 VPS18 Nonsynonymous SNV P186L 0 0 0 2 0 0 0.005 0 0 0 0 0 16.84 280464 chr2 121747273 121747273 G T rs142119594 GLI2 Synonymous SNV G1261G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.129 280465 chr5 32780866 32780866 C T rs774338813 NPR3 Stop gain R155X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 280466 chr6 129674423 129674423 C A LAMA2 Stop gain C1546X 0 0 0 1 0 0 0.003 0 0 0 0 0 43 280467 chr6 129826441 129826441 G A rs138024644 LAMA2 Nonsynonymous SNV V2878M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 280468 chr19 14552020 14552020 C T rs369378980 PKN1 Synonymous SNV P29P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.979 280469 chr11 9457892 9457892 C T IPO7 Synonymous SNV C749C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 280470 chr15 42446400 42446400 G A PLA2G4F Nonsynonymous SNV L114F 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 280471 chr5 39376883 39376883 C T rs201522659 DAB2 Nonsynonymous SNV R648Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 280472 chr6 24418739 24418740 TC - MRS2 L299Ffs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 280473 chr15 43430805 43430805 A G rs143934083 TMEM62 Nonsynonymous SNV K25R 0 0 0 2 0 0 0.005 0 0 0 0 0 13.79 280474 chr2 152132059 152132059 C G rs146374891 NMI Synonymous SNV V191V 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.515 280475 chr6 25727204 25727204 C T rs151310008 HIST1H2BA Nonsynonymous SNV T23I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.59 280476 chr6 27420837 27420837 G A rs774066822 ZNF184 Synonymous SNV T167T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.477 280477 chr6 65300687 65300687 T C rs774506293 EYS Synonymous SNV E1691E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 280478 chr11 18722508 18722508 C T TMEM86A Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 280479 chr2 160087296 160087296 G A rs371063922 TANC1 Nonsynonymous SNV V1586I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.467 280480 chr6 151161307 151161307 T C rs142195711 PLEKHG1 Nonsynonymous SNV C1106R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.287 280481 chr7 100030684 100030684 G A rs202198941 MEPCE Nonsynonymous SNV R605Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 280482 chr19 17471634 17471634 G A rs117691659 PLVAP Nonsynonymous SNV P396L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.14 280483 chr2 166221738 166221738 A T rs201124054 SCN2A Nonsynonymous SNV E1162V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.8 280484 chr6 75892991 75892991 C A rs776633189 COL12A1 Nonsynonymous SNV A556S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 280485 chr19 17660286 17660286 C A rs150586223 NIBAN3 Nonsynonymous SNV S324Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 280486 chr19 17895630 17895630 C T rs138123386 FCHO1 Nonsynonymous SNV R725W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280487 chr19 17597663 17597663 G A rs779344641 SLC27A1 Nonsynonymous SNV M153I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 280488 chr19 17999164 17999164 C T rs768757172 SLC5A5 Synonymous SNV P517P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.87 280489 chr11 32623338 32623338 T C rs994304133 EIF3M Nonsynonymous SNV I193T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 280490 chr17 56772540 56772540 A G RAD51C Nonsynonymous SNV T132A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 280491 chr5 75979030 75979030 G A IQGAP2 Nonsynonymous SNV E747K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 280492 chr6 167754654 167754654 T G TTLL2 Nonsynonymous SNV N422K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.568 280493 chr2 182756939 182756950 AGGACGAGGAGG - rs763598503 ITPRID2 E55_D58del 0 0 0.003 0 0 0 0 1 0 0 0 0 280494 chr6 44137022 44137022 C G rs570142006 CAPN11 Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.099 280495 chr19 33584416 33584416 C T rs146466271 GPATCH1 Nonsynonymous SNV T149M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 280496 chr2 186657817 186657817 A C FSIP2 Nonsynonymous SNV K1985T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 280497 chr6 47686171 47686171 A G rs763285305 ADGRF4 Nonsynonymous SNV Q694R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.261 280498 chr7 104800980 104800980 G A SRPK2 Nonsynonymous SNV R188C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280499 chr2 20234752 20234752 G T LAPTM4A Nonsynonymous SNV F168L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 280500 chr19 36558235 36558235 G A rs535488873 WDR62 Nonsynonymous SNV V197I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 31 280501 chr19 37240788 37240788 C T rs774834658 ZNF850 Nonsynonymous SNV R353Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 280502 chr6 2896319 2896319 G A rs139921713 SERPINB9 Nonsynonymous SNV L92F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 280503 chr6 101098432 101098432 A G ASCC3 Synonymous SNV D1078D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.806 280504 chr2 210752979 210752979 A C UNC80 Nonsynonymous SNV K1426T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 280505 chr2 213790998 213790998 G A rs547466728 MIR4776-1, MIR4776-2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.512 280506 chr19 39879978 39879979 CT - PAF1 E125Vfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 280507 chr6 34004309 34004309 C T rs145463048 GRM4 Synonymous SNV P410P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.442 280508 chr2 218700829 218700829 G A rs141836163 TNS1 Nonsynonymous SNV P913L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 280509 chr7 104749474 104749474 C T rs186916831 KMT2E Nonsynonymous SNV S1185L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 280510 chr7 107698357 107698357 G A rs144617075 LAMB4 Nonsynonymous SNV P1100L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.857 280511 chr7 139612913 139612913 T C TBXAS1 Nonsynonymous SNV M128T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.836 280512 chr7 141424955 141424955 G T WEE2 Nonsynonymous SNV V451F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 280513 chr7 100401116 100401116 C T rs776048181 EPHB4 Synonymous SNV P977P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.38 280514 chr2 227660344 227660344 G T IRS1 Synonymous SNV S1037S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 280515 chr6 43153989 43153989 C T CUL9 Synonymous SNV L349L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.762 280516 chr7 149484533 149484533 T C rs776632821 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 280517 chr7 149486708 149486708 C T SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 16.68 280518 chr7 149493506 149493506 C G rs150278929 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 0.834 280519 chr6 44232807 44232807 G T rs1011761470 NFKBIE Nonsynonymous SNV P93T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.4 280520 chr6 47976419 47976419 G A rs139916762 PTCHD4 Synonymous SNV T286T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.893 280521 chr16 700295 700295 G A WDR90 Synonymous SNV K107K 0 0 0 3 0 0 0.008 0 0 0 0 0 9.938 280522 chr7 150839123 150839123 G A rs779165451 AGAP3 Nonsynonymous SNV R317H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 280523 chr19 46914823 46914823 C G CCDC8 Nonsynonymous SNV Q415H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 280524 chr6 152420026 152420026 G A rs9341069 ESR1 Synonymous SNV A571A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.538 280525 chr7 142658946 142658946 T C rs950408375 KEL Nonsynonymous SNV Q6R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 280526 chr6 155485604 155485604 G A rs540683108 TIAM2 Nonsynonymous SNV R695H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 280527 chr19 47882984 47882984 C T rs780733450 DHX34 Synonymous SNV S908S 0.003 0 0 0 3 0 0 0 0 0 0 0 15.76 280528 chr7 16918167 16918167 T G AGR3 Nonsynonymous SNV K26Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 280529 chr19 49675284 49675284 C T rs764690335 TRPM4 Nonsynonymous SNV R242W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 280530 chr2 27276016 27276016 G A AGBL5 Nonsynonymous SNV E64K 0 0 0.007 0 0 0 0 2 0 0 0 0 21.4 280531 chr2 27352642 27352642 T C ABHD1 Nonsynonymous SNV L213P 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 280532 chr7 2748844 2748844 G C rs75195869 AMZ1 Nonsynonymous SNV C246S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.921 280533 chr19 51323293 51323293 T C rs200448641 KLK1 0 0.003 0 0 0 1 0 0 0 0 0 0 15.8 280534 chr2 29430136 29430136 G A rs74716434 ALK Nonsynonymous SNV A212V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 280535 chr6 90461296 90461296 A T rs202024033 MDN1 Synonymous SNV I1027I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 280536 chr6 97676910 97676910 T C rs143143212 MMS22L Synonymous SNV E350E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.279 280537 chr19 51875365 51875365 G A rs375545094 NKG7 Synonymous SNV A83A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.125 280538 chr19 50905945 50905945 G A rs781682472 POLD1 Nonsynonymous SNV R306H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 280539 chr2 37429024 37429024 C T rs200577959 CEBPZ Synonymous SNV E1016E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.52 280540 chr2 42120360 42120360 G C rs2374378 LINC01913 0 0 0.007 0 0 0 0 2 0 0 1 0 2.334 280541 chr19 52249705 52249705 C T rs753325158 FPR1 Synonymous SNV S181S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 280542 chr19 52272706 52272706 C T rs892908435 FPR2 Synonymous SNV T265T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 280543 chr2 53897690 53897690 C T rs751188629 ASB3, GPR75-ASB3 Nonsynonymous SNV V430I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 280544 chr11 74618302 74618302 A G XRRA1 Nonsynonymous SNV S217P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 280545 chr6 33679419 33679419 T G rs201734830 UQCC2 Nonsynonymous SNV E15D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 24.9 280546 chr19 53385183 53385183 T C ZNF320 Nonsynonymous SNV T66A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.6 280547 chr19 53432372 53432372 C T rs769255409 ZNF816-ZNF321P Synonymous SNV S162S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.06 280548 chr2 61408472 61408472 G A AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 280549 chr6 40359805 40359805 C T rs202127195 LRFN2 Synonymous SNV S749S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.6 280550 chr7 51287562 51287562 G T rs368613191 COBL Nonsynonymous SNV H41N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.893 280551 chr2 74604579 74604579 T C rs745657856 DCTN1 Nonsynonymous SNV T125A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 280552 chr2 85787954 85787954 G C rs147427088 GGCX Synonymous SNV V66V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.809 280553 chr2 85820274 85820274 G A VAMP5 Synonymous SNV G115G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.643 280554 chr7 48311747 48311747 T C ABCA13 Synonymous SNV F828F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.944 280555 chr7 107704425 107704425 G A LAMB4 Stop gain Q948X 0.002 0 0 1 2 0 0.003 0 0 0 0 0 37 280556 chr2 96873967 96873967 G A rs145045733 STARD7 Nonsynonymous SNV P69L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.76 280557 chr7 107716325 107716325 C T rs899173847 LAMB4 Nonsynonymous SNV C726Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.397 280558 chr2 97217197 97217197 G A rs202219610 ARID5A Nonsynonymous SNV R147Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.694 280559 chr2 97493599 97493599 C T rs376394445 CNNM3 Nonsynonymous SNV R503C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 280560 chr16 57016130 57016130 C A rs767606464 CETP Synonymous SNV G374G 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 15.69 280561 chr19 1506821 1506821 C A rs200191805 ADAMTSL5 Nonsynonymous SNV R320M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 280562 chr7 51095494 51095494 T C COBL Nonsynonymous SNV Q1100R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 280563 chr2 99232674 99232674 A G rs776072070 UNC50 Nonsynonymous SNV I136V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.978 280564 chr7 116399498 116399498 C T rs771333219 MET Nonsynonymous SNV P343L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.18 280565 chr11 116633734 116633734 T C BUD13 Nonsynonymous SNV R191G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 280566 chr16 66503831 66503831 C T BEAN1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.82 280567 chr7 94855294 94855296 GAA - rs781325551 PPP1R9A E640del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 280568 chr16 67574104 67574104 C T rs759249453 RIPOR1 Nonsynonymous SNV T192M 0 0 0 1 0 0 0.003 0 0 0 0 0 30 280569 chr19 57840542 57840542 C G ZNF543 Nonsynonymous SNV P571R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 280570 chr11 123886353 123886353 C A rs557336616 OR10G4 Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.214 280571 chr6 80717710 80717710 T A TTK Nonsynonymous SNV S108R 0 0 0 1 0 0 0.003 0 0 0 0 0 27 280572 chr7 138968805 138968805 C T rs770411534 UBN2 Synonymous SNV L1052L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.956 280573 chr7 89861822 89861822 T C rs145139034 STEAP2 Nonsynonymous SNV C453R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 280574 chr20 3641572 3641572 C T rs540804733 GFRA4 Synonymous SNV A137A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 280575 chr8 113697897 113697897 C A CSMD3 Synonymous SNV G610G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 280576 chr8 11687775 11687775 A C FDFT1 Nonsynonymous SNV K75T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.57 280577 chr7 143053713 143053713 C T rs143238060 FAM131B Nonsynonymous SNV R244Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 28.3 280578 chr7 99473923 99473923 G A rs201572604 OR2AE1 Nonsynonymous SNV T245M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 280579 chr20 13415728 13415728 G A rs144649124 TASP1 Synonymous SNV A222A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.983 280580 chr8 12878665 12878665 A G rs775534484 TRMT9B Synonymous SNV P33P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.42 280581 chr7 150747236 150747236 C A rs141910870 ASIC3 Nonsynonymous SNV A193D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.43 280582 chr20 20350311 20350311 A G INSM1 Nonsynonymous SNV Q467R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 280583 chr7 720281 720281 G A rs770716715 PRKAR1B Nonsynonymous SNV P87L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 280584 chr7 1514398 1514398 G A rs756207848 INTS1 Nonsynonymous SNV A1860V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 280585 chr3 135720601 135720601 C T rs376851575 PPP2R3A Synonymous SNV P87P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.228 280586 chr20 20553596 20553596 C T rs550110193 RALGAPA2 Nonsynonymous SNV V942M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 280587 chr3 142606526 142606526 A G rs1033134438 PCOLCE2 Synonymous SNV C59C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.213 280588 chr12 7169873 7169873 A G rs148105120 C1S Nonsynonymous SNV S34G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.4 280589 chr20 32345005 32345005 A G rs762793705 ZNF341 Nonsynonymous SNV S175G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 280590 chr7 82586165 82586165 A G rs369612191 PCLO Synonymous SNV D1368D 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.181 280591 chr20 34214228 34214228 C T rs368440396 CPNE1 Nonsynonymous SNV G516S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 280592 chr20 43836261 43836261 A G rs2233884 SEMG1 Nonsynonymous SNV H108R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.349 280593 chr7 94293237 94293237 C T PEG10 Synonymous SNV S123S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.62 280594 chr7 27181654 27181654 A G HOXA5 Nonsynonymous SNV Y205H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 280595 chr3 169569536 169569536 C T LRRC31 Nonsynonymous SNV D288N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 280596 chr20 44587935 44587935 G A rs750099536 ZNF335 Nonsynonymous SNV R720C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 280597 chr8 100205255 100205255 G A rs61753721 VPS13B Nonsynonymous SNV A829T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 5.631 280598 chr17 1839988 1839988 C T rs373073010 RTN4RL1 Synonymous SNV E376E 0.003 0 0 2 3 0 0.005 0 0 0 0 0 0.005 280599 chr20 45188810 45188810 T C rs749718498 SLC13A3 Nonsynonymous SNV M504V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 280600 chr7 42006012 42006012 G T rs371857859 GLI3 Nonsynonymous SNV Q887K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 280601 chr12 21919111 21919111 C T rs149127157 KCNJ8 Nonsynonymous SNV R274H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 280602 chr8 144999094 144999094 T G rs782670264 PLEC Nonsynonymous SNV E1654A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.53 280603 chr7 45141500 45141500 C T TBRG4 Synonymous SNV Q387Q 0 0 0 1 0 0 0.003 0 0 0 0 0 6.252 280604 chr8 23082412 23082412 G A TNFRSF10A Nonsynonymous SNV L55F 0 0.003 0 0 0 1 0 0 0 0 0 0 14.32 280605 chr7 48068489 48068489 C A rs138209683 SUN3 Nonsynonymous SNV R16L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 280606 chr20 58471501 58471501 A T rs992121956 SYCP2 Nonsynonymous SNV V496E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 280607 chr7 138957104 138957104 C T UBN2 Synonymous SNV L545L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.58 280608 chr8 27291042 27291042 G C rs779736659 PTK2B Nonsynonymous SNV G360R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 280609 chr20 61943345 61943345 C T rs575995099 COL20A1 Nonsynonymous SNV P581S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.641 280610 chr8 27463906 27463906 C T rs150438413 CLU Nonsynonymous SNV V128I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.2 280611 chr8 29996186 29996186 C A MBOAT4 Nonsynonymous SNV C69F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.197 280612 chr20 62608431 62608431 C T rs756337321 SAMD10 Nonsynonymous SNV R113Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 280613 chr8 38285913 38285913 - TCA rs776622310 FGFR1 D44_S45insD 0 0.003 0 0 0 1 0 0 0 0 0 0 280614 chr17 7463456 7463456 A G TNFSF12-TNFSF13, TNFSF13 Nonsynonymous SNV D132G 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 280615 chr8 139164361 139164361 G T rs201122505 FAM135B Nonsynonymous SNV A786E 0.003 0 0.007 0 3 0 0 2 0 0 0 0 0.003 280616 chr7 149129553 149129553 A G ZNF777 Nonsynonymous SNV S604P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 280617 chr8 42218860 42218860 T G rs745652653 POLB Nonsynonymous SNV F200V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.41 280618 chr7 6590980 6590980 G A rs769043872 GRID2IP Synonymous SNV L30L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 280619 chr8 143746981 143746981 C T JRK Nonsynonymous SNV C166Y 0.003 0 0 0 3 0 0 0 0 0 0 0 15.56 280620 chr8 66516661 66516661 C T rs199552111 ARMC1 Nonsynonymous SNV A171T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 280621 chr8 67592101 67592101 A G rs1909534 C8orf44 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 16.72 280622 chr3 43743941 43743941 A T rs1024005356 ABHD5 Nonsynonymous SNV D123V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 280623 chr8 144940621 144940621 C T rs201634698 EPPK1 Synonymous SNV A2267A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.99 280624 chr7 87133729 87133729 G A ABCB1 Nonsynonymous SNV R1225C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 280625 chr8 144945510 144945510 C T rs200565970 EPPK1 Nonsynonymous SNV G638S 0.003 0 0 0 3 0 0 0 0 0 0 0 27.2 280626 chr21 39672056 39672056 C T rs143785199 KCNJ15 Synonymous SNV S291S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.296 280627 chr21 41427670 41427670 C G DSCAM Nonsynonymous SNV D1673H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 33 280628 chr21 41455893 41455893 C A DSCAM Synonymous SNV T1391T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.77 280629 chr21 39671732 39671732 T C rs200671820 KCNJ15 Synonymous SNV C183C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 280630 chr21 40191691 40191692 GT - ETS2 0.001 0 0 0 1 0 0 0 0 0 0 0 280631 chr21 40768856 40768856 G T rs141321319 GET1 Synonymous SNV P138P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 280632 chr7 91746414 91746414 - AGC CYP51A1 R431_Y432insC 0 0 0 1 0 0 0.003 0 0 0 0 0 280633 chr8 90993087 90993089 AAG - rs730881841 NBN S118del 0 0.003 0 0 0 1 0 0 0 0 0 0 280634 chr8 94797542 94797542 A G rs757243261 TMEM67 Synonymous SNV Q408Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.996 280635 chr21 43413147 43413147 T C rs150447458 ZBTB21 Nonsynonymous SNV Y353C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 280636 chr3 48593608 48593608 G T PFKFB4 Nonsynonymous SNV A32D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.122 280637 chr21 45547871 45547871 C T rs777018627 LOC102724159, PWP2 Synonymous SNV R733R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.716 280638 chr7 99526464 99526464 T G rs150788831 GJC3 Synonymous SNV A260A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.677 280639 chr21 45859048 45859048 G A rs41277558 TRPM2 Nonsynonymous SNV M103I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.23 280640 chr8 146068463 146068463 C T rs145249149 ZNF7 Synonymous SNV T561T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.43 280641 chr8 665972 665972 G A rs565378212 ERICH1 Nonsynonymous SNV P20S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 280642 chr3 51430416 51430416 G A rs200407277 RBM15B Nonsynonymous SNV R529Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 280643 chr3 52027973 52027973 C T rs779435060 RPL29 Nonsynonymous SNV R91H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 280644 chr3 52391672 52391672 C T rs774732428 DNAH1 Nonsynonymous SNV R1301W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 280645 chr3 52420315 52420315 C T rs182141515 DNAH1 Nonsynonymous SNV A2922V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.7 280646 chr21 47685941 47685941 G C rs143439097 MCM3AP Nonsynonymous SNV H977D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 280647 chr3 53260794 53260794 G A rs782427350 TKT Synonymous SNV T558T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 280648 chr3 56026215 56026215 C T rs780698592 ERC2 Nonsynonymous SNV D709N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 280649 chr21 47546136 47546136 G A rs761913437 COL6A2 Nonsynonymous SNV D803N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.58 280650 chr8 11710928 11710928 C T CTSB Synonymous SNV L12L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.41 280651 chr22 17447169 17447169 G A rs201893836 GAB4 Nonsynonymous SNV P217L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.102 280652 chr3 58107011 58107011 G C FLNB Nonsynonymous SNV R969S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.076 280653 chr22 19365538 19365538 C T rs116388467 HIRA Synonymous SNV A489A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 21.4 280654 chr12 82752012 82752012 G A rs374508941 CCDC59 Synonymous SNV S48S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.84 280655 chr7 43531715 43531715 C A rs534210488 HECW1 Synonymous SNV A1058A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.06 280656 chr7 44579314 44579314 C G rs201075372 NPC1L1 Nonsynonymous SNV A228P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 280657 chr9 117052377 117052377 C T rs777553808 COL27A1 Nonsynonymous SNV R1416W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 280658 chr22 19961691 19961691 - G ARVCF Frameshift insertion N678Qfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 280659 chr3 9780981 9780981 G A BRPF1 Nonsynonymous SNV V300M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 280660 chr22 22892587 22892587 A C rs561423697 PRAME Nonsynonymous SNV F156V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.931 280661 chr3 98188494 98188494 C T rs200039033 OR5K1 Nonsynonymous SNV T25I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.251 280662 chr12 99225849 99225849 G A rs374794796 ANKS1B Synonymous SNV H174H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 280663 chr22 25570332 25570332 G A rs16979690 KIAA1671 Nonsynonymous SNV R1592K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.686 280664 chr22 25599748 25599748 C T rs201863246 CRYBB3 Synonymous SNV S71S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.98 280665 chr7 5103810 5103810 C T RBAK Synonymous SNV D241D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.462 280666 chr22 24236792 24236792 G T MIF-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.106 280667 chr12 110813952 110813952 A C ANAPC7 Nonsynonymous SNV V510G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 280668 chr22 27456198 27456198 G A LOC284898 Nonsynonymous SNV H41Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.542 280669 chr12 113312953 113312953 G A rs141044207 RPH3A Synonymous SNV A220A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.984 280670 chr22 30767635 30767635 A G rs774119880 KIAA1656 0.002 0 0 0 2 0 0 0 0 0 0 0 1.059 280671 chr7 6591059 6591059 G T GRID2IP Synonymous SNV T3T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.827 280672 chr22 31532931 31532931 C G PLA2G3 Nonsynonymous SNV A388P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 280673 chr8 71499380 71499380 C A TRAM1 Nonsynonymous SNV G115V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 280674 chr7 76916214 76916214 G A rs267601574 CCDC146 Nonsynonymous SNV E750K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.94 280675 chr22 35719883 35719883 G A rs759894563 TOM1 Synonymous SNV T163T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 280676 chr22 38221296 38221304 GCCGCCGAC - GALR3 R311_R313del 0 0.003 0 0 0 1 0 0 0 0 0 0 280677 chr4 139153506 139153506 T C rs147680354 SLC7A11 Synonymous SNV A145A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.27 280678 chr4 141214464 141214464 G A rs762708650 SCOC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.933 280679 chr4 143181692 143181692 G A INPP4B Nonsynonymous SNV A214V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 280680 chr9 135203911 135203916 TCATCA - rs760025407 SETX D1023_D1024del 0 0.003 0 0 0 1 0 0 0 0 0 0 280681 chr12 124413952 124413952 A C DNAH10 Nonsynonymous SNV H4028P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 280682 chr9 136004606 136004606 T C RALGDS Nonsynonymous SNV R34G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 280683 chr4 154512308 154512308 A G rs749473511 TMEM131L Nonsynonymous SNV M592V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 280684 chr9 136648674 136648674 G A rs80092372 VAV2 Synonymous SNV G548G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 280685 chr22 43616481 43616481 G A rs200930097 SCUBE1 Synonymous SNV I554I 0 0.005 0.003 0 0 2 0 1 0 0 0 0 11.17 280686 chr4 15704916 15704916 G C rs539558371 BST1 Nonsynonymous SNV R50P 0 0 0.003 0 0 0 0 1 0 0 0 0 33 280687 chr8 1645339 1645339 G A rs377572822 DLGAP2 Synonymous SNV T941T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.041 280688 chr12 132475249 132475249 T A EP400 Synonymous SNV V873V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 280689 chr12 132547013 132547013 A G rs780819992 EP400 Nonsynonymous SNV T2701A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 280690 chr7 94903474 94903474 G A PPP1R9A Nonsynonymous SNV G1057D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 280691 chr4 166307405 166307405 T A rs1055758873 MIR578 0 0 0.003 0 0 0 0 1 0 0 0 0 3.352 280692 chr4 166307406 166307406 A G rs896036125 MIR578 0 0 0.003 0 0 0 0 1 0 0 0 0 0.574 280693 chr4 169141853 169141853 A G rs74479574 DDX60 Synonymous SNV D1664D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.664 280694 chr9 139399519 139399519 C T NOTCH1 Nonsynonymous SNV D1542N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 280695 chr12 133780006 133780006 T C ZNF268 Synonymous SNV H578H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.531 280696 chr13 20716524 20716524 G A GJA3 Synonymous SNV L302L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.357 280697 chr22 50506981 50506981 C T rs376323039 MLC1 Nonsynonymous SNV E259K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 280698 chr13 25458541 25458541 C G CENPJ Nonsynonymous SNV E1180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29 280699 chr13 25839965 25839965 C T rs146343671 MTMR6 Nonsynonymous SNV D195N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 280700 chr9 140110749 140110749 G A rs138917451 NDOR1 Nonsynonymous SNV V568I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 280701 chr22 50721250 50721250 C T rs200474256 PLXNB2 Nonsynonymous SNV M959I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.468 280702 chr8 22873157 22873157 T C RHOBTB2 Nonsynonymous SNV C630R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 280703 chr4 185678841 185678841 A C ACSL1 Nonsynonymous SNV L601R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 280704 chr22 50986742 50986742 A G rs765185916 KLHDC7B Nonsynonymous SNV I690M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 280705 chr22 51178194 51178194 G A rs374489453 ACR Synonymous SNV A118A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 280706 chr17 62079153 62079153 C T rs768333101 PRR29 Nonsynonymous SNV L177F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 280707 chr4 187584696 187584696 C T rs144526682 FAT1 Nonsynonymous SNV D1113N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 280708 chr22 50969435 50969436 TT - rs760471686 ODF3B K157Sfs*110 0.001 0 0 0 1 0 0 0 0 0 0 0 280709 chr22 51018460 51018460 G A rs140020889 CHKB Synonymous SNV H290H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.06 280710 chr4 2306567 2306567 C T rs553099206 ZFYVE28 Synonymous SNV T470T 0 0 0.01 0 0 0 0 3 0 0 0 0 11.02 280711 chrX 14930428 14930428 G C MOSPD2 Nonsynonymous SNV V250L 0 0.005 0 0 0 2 0 0 0 1 0 0 0.852 280712 chr9 215013 215013 G C rs749272308 DOCK8 Nonsynonymous SNV A13P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 280713 chr13 45912819 45912819 C T rs147579094 TPT1 Synonymous SNV K130K 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign 15.83 280714 chr4 3419158 3419158 T G RGS12 Nonsynonymous SNV L236R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.424 280715 chr9 27566849 27566849 C T rs145418675 C9orf72 Synonymous SNV K90K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.67 280716 chr17 72436575 72436575 G T GPRC5C Synonymous SNV L220L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.005 280717 chr8 41542108 41542108 C T rs765430197 ANK1 Synonymous SNV R1497R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.34 280718 chrX 47432339 47432339 C T SYN1 Nonsynonymous SNV S681N 0 0.005 0 0 0 2 0 0 0 1 0 0 19.21 280719 chr8 41791487 41791487 A G rs755288560 KAT6A Synonymous SNV H1417H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.443 280720 chrX 48931524 48931524 G A rs138513766 PRAF2 Synonymous SNV L41L 0 0.005 0 0 0 2 0 0 0 1 0 0 13.17 280721 chr8 143592310 143592310 C G ADGRB1 Nonsynonymous SNV P898R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 280722 chr4 37857285 37857285 C T rs141694842 PGM2 Synonymous SNV G553G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 280723 chrX 64744455 64744455 G C rs867562406 LAS1L Nonsynonymous SNV P361R 0 0.005 0 0 0 2 0 0 0 1 0 0 Uncertain significance 8.603 280724 chr8 57890688 57890688 G A rs144109066 IMPAD1 Synonymous SNV Y189Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.413 280725 chr9 140508098 140508098 C T rs142271866 ARRDC1 Synonymous SNV F104F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.62 280726 chr13 70535504 70535504 C T rs781724493 KLHL1 Synonymous SNV E190E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.766 280727 chrX 49050707 49050707 A C SYP Nonsynonymous SNV F113L 0.002 0 0 0 2 0 0 0 1 0 0 0 23.1 280728 chr17 73832183 73832183 G A rs550974990 UNC13D Nonsynonymous SNV P485L 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 16.63 280729 chr17 75471895 75471895 C T rs375553661 SEPTIN9 Nonsynonymous SNV R99C 0 0 0 2 0 0 0.005 0 0 0 0 0 1.34 280730 chr8 145138942 145138942 T C rs782598296 GPAA1 Synonymous SNV T205T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.363 280731 chr19 58189740 58189740 T C ZSCAN4 Nonsynonymous SNV S257P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 280732 chrX 135289979 135289979 C T rs755900253 FHL1 Synonymous SNV T136T 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 14.47 280733 chrX 141291489 141291500 AGGACCCTGTGG - rs749902575 MAGEC2 P92_P95del 0 0.005 0 0 0 2 0 0 0 1 0 0 280734 chr9 95738859 95738859 G A rs35609500 FGD3 Synonymous SNV A107A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.86 280735 chrX 148044377 148044377 A T rs782620241 AFF2 Nonsynonymous SNV K582N 0 0.005 0 0 0 2 0 0 0 1 0 0 0.101 280736 chr8 145692677 145692677 T C rs772448489 KIFC2 Nonsynonymous SNV L141P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.98 280737 chr4 73927571 73927571 T C rs115487882 COX18 Nonsynonymous SNV M266V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 280738 chr4 75937903 75937903 C G PARM1 Synonymous SNV P104P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.881 280739 chrX 100749082 100749082 G C rs781960872 ARMCX4 Nonsynonymous SNV G1836R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.93 280740 chrX 100749089 100749089 G A rs782152145 ARMCX4 Nonsynonymous SNV G1838E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.199 280741 chr8 17823606 17823606 G A rs777684049 PCM1 Nonsynonymous SNV R985H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 280742 chr9 107535148 107535148 G A NIPSNAP3B Nonsynonymous SNV G209E 0 0 0 1 0 0 0.003 0 0 0 0 0 24 280743 chr1 983437 983437 C T rs749950719 AGRN Nonsynonymous SNV A1266V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.69 280744 chr4 79396668 79396668 G A rs373757948 FRAS1 Nonsynonymous SNV V2587I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 280745 chr4 79403071 79403071 G A rs766342138 FRAS1 Nonsynonymous SNV V2853I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 280746 chr1 1181992 1181992 G A rs1025233202 C1QTNF12 Nonsynonymous SNV R27W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 280747 chr8 2041834 2041834 A C rs78708377 MYOM2 Nonsynonymous SNV I681L 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 16.24 280748 chr8 2054077 2054077 A G rs117165873 MYOM2 Nonsynonymous SNV Y927C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 280749 chrX 118370614 118370614 G A rs747050361 PGRMC1 Synonymous SNV K96K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 280750 chr1 2450747 2450747 G A PANK4 Synonymous SNV D290D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.279 280751 chr4 8609096 8609096 G A rs144181545 CPZ Nonsynonymous SNV D380N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 280752 chr1 3431134 3431134 G A rs184322439 MEGF6 Nonsynonymous SNV A278V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.486 280753 chrX 140994110 140994110 T G rs145987402 MAGEC1 Nonsynonymous SNV V307G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.495 280754 chr9 117104386 117104386 G C rs760891130 AKNA Nonsynonymous SNV D1140E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.13 280755 chr4 89345092 89345092 T C HERC6 Synonymous SNV D598D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 280756 chrX 100513506 100513506 C T rs138212456 DRP2 Synonymous SNV L789L 0.003 0 0.007 0 3 0 0 2 1 0 1 0 Benign 11.9 280757 chr1 7848162 7848162 C A PER3 Nonsynonymous SNV Q150K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 280758 chr9 21141387 21141387 G A rs748935849 IFNW1 Synonymous SNV F61F 0.002 0 0 0 2 0 0 0 0 0 0 0 4.198 280759 chrX 153061941 153061941 C T rs139415367 SSR4 Synonymous SNV D40D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.64 280760 chrX 153694120 153694120 C T rs376089205 PLXNA3 Nonsynonymous SNV P821L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.91 280761 chr14 35249493 35249493 T C BAZ1A Nonsynonymous SNV D680G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 280762 chrX 2924695 2924695 A C rs754255087 ARSH Synonymous SNV A14A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.044 280763 chr8 52469469 52469469 T C PXDNL Nonsynonymous SNV Y104C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 280764 chr8 54764550 54764550 G A rs144848624 RGS20 Nonsynonymous SNV A31T 0 0.003 0.003 2 0 1 0.005 1 0 0 0 0 3.487 280765 chrX 14027125 14027125 G C GEMIN8 Nonsynonymous SNV I212M 0.002 0 0 0 2 0 0 0 1 0 0 0 24.5 280766 chr5 123984143 123984143 C T ZNF608 Nonsynonymous SNV S645N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 280767 chrX 47002105 47002105 C T NDUFB11 Synonymous SNV L82L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.1 280768 chrX 49030697 49030697 G A rs201497020 PLP2 Nonsynonymous SNV A121T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 280769 chr1 17660474 17660474 G A rs138247576 PADI4 Nonsynonymous SNV V104I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 280770 chrX 57515310 57515310 T C rs757349170 FAAH2 Nonsynonymous SNV V475A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 280771 chrX 5811349 5811349 G A rs932740999 NLGN4X Nonsynonymous SNV H654Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 280772 chrX 18917325 18917325 G T rs748533186 PHKA2 Nonsynonymous SNV A1026D 0.002 0 0 0 2 0 0 0 1 0 0 0 1.019 280773 chrX 18917326 18917326 C T PHKA2 Nonsynonymous SNV A1026T 0.002 0 0 0 2 0 0 0 1 0 0 0 7.004 280774 chr9 133579090 133579090 A G EXOSC2 Nonsynonymous SNV I245V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 280775 chr8 86127233 86127234 CT - rs540894179 RBIS R49Sfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 280776 chr14 59820627 59820627 G A rs149814952 DAAM1 Synonymous SNV L767L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 280777 chr8 87641147 87641147 C G CNGB3 Nonsynonymous SNV D494H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 280778 chr1 19439350 19439350 A G UBR4 Synonymous SNV A3823A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.915 280779 chr5 138729782 138729782 G A PROB1 Nonsynonymous SNV P330L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 280780 chrX 77912882 77912882 T A RTL3 Nonsynonymous SNV I346F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.09 280781 chr8 95866058 95866058 G C rs146554643 INTS8 Nonsynonymous SNV G556A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 280782 chr14 64989064 64989064 C T rs199745315 ZBTB1 Nonsynonymous SNV T281M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 280783 chr1 22181368 22181368 C T HSPG2 Nonsynonymous SNV A2037T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 280784 chrX 48761936 48761936 G A rs782543152 SLC35A2 Synonymous SNV D220D 0.002 0 0 0 2 0 0 0 1 0 0 0 7.756 280785 chr1 22835641 22835641 A T ZBTB40 Nonsynonymous SNV Q471L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.11 280786 chr1 23279585 23279585 G A LACTBL1 Nonsynonymous SNV T564M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 280787 chr1 23519990 23519990 C T rs376542874 HTR1D Synonymous SNV T241T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 280788 chr1 24144067 24144067 C T rs142942001 HMGCL Nonsynonymous SNV V51I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.89 280789 chr18 77037136 77037136 C T rs781738548 ATP9B Nonsynonymous SNV R451W 0 0 0 3 0 0 0.008 0 0 0 0 0 35 280790 chr5 145197514 145197514 T C rs138344642 PRELID2 Nonsynonymous SNV Q104R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 280791 chr1 25573052 25573052 G C rs146236511 RSRP1 Nonsynonymous SNV R135G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 280792 chr14 74969371 74969371 C T rs189020867 LTBP2 Nonsynonymous SNV V1719M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.93 280793 chr9 113562980 113562980 T C MUSK Synonymous SNV I354I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.475 280794 chr5 148579944 148579944 C T rs761953405 ABLIM3 Nonsynonymous SNV S134F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 280795 chr1 27120953 27120953 A G rs371892825 PIGV Nonsynonymous SNV H143R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 280796 chr9 140063913 140063913 C T rs1026468650 LRRC26 Synonymous SNV A161A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 280797 chr1 27620539 27620539 C G WDTC1 Nonsynonymous SNV A230G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 280798 chr9 14797579 14797579 T C rs373197206 FREM1 Synonymous SNV Q1252Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.146 280799 chr9 18775814 18775814 C T ADAMTSL1 Nonsynonymous SNV S824L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.354 280800 chr1 33295588 33295588 A G rs923034037 S100PBP Nonsynonymous SNV Q315R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 280801 chr5 158743707 158743707 C T rs56064925 IL12B Nonsynonymous SNV V325M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 280802 chr1 36056327 36056327 G A rs142726594 TFAP2E Nonsynonymous SNV A333T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.55 280803 chr1 35824602 35824602 T C rs541025061 ZMYM4 Synonymous SNV Y54Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.51 280804 chr1 36823867 36823867 G A rs150375752 STK40 Synonymous SNV G110G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 280805 chr9 26998155 26998155 A G rs201512641 LRRC19 Nonsynonymous SNV Y56H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.47 280806 chr1 15439095 15439095 - TCTTCTCCCAGCGGCAGGTCTTTTTTC TMEM51-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 280807 chr9 125273573 125273573 C T rs112619503 OR1J2 Nonsynonymous SNV R165W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.2 280808 chr14 95884217 95884217 G A rs73339120 SYNE3 Synonymous SNV N953N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.304 280809 chr5 176517563 176517563 T C rs761885093 FGFR4 Synonymous SNV I88I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.694 280810 chr1 43232251 43232251 G C rs72659347 P3H1 Nonsynonymous SNV S131W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 280811 chr1 43681013 43681013 C T rs777001077 CFAP57 Nonsynonymous SNV R673W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.14 280812 chr9 126133457 126133457 G C CRB2 Nonsynonymous SNV R679P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 280813 chr19 4216037 4216037 T C rs766421704 ANKRD24 Synonymous SNV P420P 0.001 0 0 3 1 0 0.008 0 0 0 0 0 1.555 280814 chr1 44820679 44820679 G C rs201296029 ERI3 Nonsynonymous SNV A7G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 280815 chr9 128003367 128003367 - AGC rs749687898 HSPA5 L13_S14insL 0 0 0 1 0 0 0.003 0 0 0 0 0 280816 chr1 45808084 45808084 G A rs769225253 TOE1 Nonsynonymous SNV R174Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 280817 chr9 5563179 5563179 G A rs767810563 PDCD1LG2 Nonsynonymous SNV V262I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.21 280818 chr1 46099295 46099295 T G GPBP1L1 Nonsynonymous SNV I304L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 280819 chr1 47755206 47755206 A G STIL Synonymous SNV H308H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.296 280820 chr1 52520705 52520705 T C TXNDC12 Nonsynonymous SNV I22V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.524 280821 chr1 52705055 52705055 A C ZFYVE9 Nonsynonymous SNV I656L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 280822 chr21 36042049 36042049 C A CLIC6 Nonsynonymous SNV P121H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 280823 chr1 54060659 54060659 G A GLIS1 Nonsynonymous SNV P148S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.73 280824 chr5 33455164 33455164 G A rs147141129 TARS Nonsynonymous SNV E190K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 280825 chr15 27128681 27128681 C T rs371590711 GABRA5 Synonymous SNV D158D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 280826 chr1 57476911 57476911 G C DAB1 Synonymous SNV S493S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.466 280827 chr15 34647337 34647337 A T rs766065684 NUTM1 Nonsynonymous SNV Q483L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 280828 chr5 476140 476140 T C SLC9A3 Nonsynonymous SNV E703G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 280829 chr5 52370904 52370904 T C rs80331976 ITGA2 Nonsynonymous SNV I893T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.2 280830 chr15 40913829 40913829 A G rs201505665 KNL1 Nonsynonymous SNV D456G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.716 280831 chrX 100118566 100118566 G A rs373467750 NOX1 Stop gain R54X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 280832 chr5 61875801 61875801 - G rs769473235 LRRC70 Frameshift insertion V180Gfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 280833 chr5 68411104 68411104 T C rs780867022 SLC30A5 Nonsynonymous SNV V218A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 280834 chr15 42276139 42276139 C T PLA2G4E Nonsynonymous SNV G807D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 280835 chr1 85412794 85412794 G A MCOLN2 Nonsynonymous SNV H257Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 280836 chrX 13785324 13785324 G C rs368016722 OFD1 Nonsynonymous SNV R853T 0.003 0 0 1 3 0 0.003 0 1 0 0 0 15.2 280837 chrX 152159055 152159055 G C PNMA5 Nonsynonymous SNV S363C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 280838 chr1 94054806 94054806 G T rs376886380 BCAR3 Nonsynonymous SNV F128L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 280839 chrX 18622366 18622366 A T CDKL5 Nonsynonymous SNV Q441L 0.003 0 0 1 3 0 0.003 0 1 0 0 0 17.04 280840 chr1 101343350 101343350 A G EXTL2 Synonymous SNV L39L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 280841 chrX 28807472 28807472 G A rs143600441 IL1RAPL1 Synonymous SNV P4P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 11.67 280842 chr1 101343264 101343264 A T rs2207735 EXTL2 Synonymous SNV T67T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.009 280843 chrX 37663264 37663264 C T rs782193225 CYBB Synonymous SNV S344S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.803 280844 chr15 63935703 63935703 C T rs200742146 HERC1 Nonsynonymous SNV R3744Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.3 280845 chr9 35906583 35906583 - CCACCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCA HRCT1 H107_R108insHTPHHTPHHHHHHHPH 0 0 0 1 0 0 0.003 0 0 0 0 0 280846 chr1 110655484 110655484 G A rs201013549 UBL4B Nonsynonymous SNV V110M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 280847 chr1 21268352 21268352 A G EIF4G3 Nonsynonymous SNV V376A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.288 280848 chr15 64966700 64966700 C T rs145295840 ZNF609 Synonymous SNV N549N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.064 280849 chr6 106959612 106959612 - T CRYBG1 Stop gain D208* 0 0 0.003 0 0 0 0 1 0 0 0 0 280850 chr1 114340248 114340248 C T RSBN1 Nonsynonymous SNV V372I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 280851 chr6 109090210 109090210 G A rs911258397 LINC00222 0 0 0.003 0 0 0 0 1 0 0 0 0 8.293 280852 chr10 65281317 65281317 G T REEP3 Nonsynonymous SNV W4C 0.003 0 0 0 3 0 0 0 0 0 0 0 21.7 280853 chr1 120465364 120465364 C T rs116321057 NOTCH2 Nonsynonymous SNV V1633I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 20.2 280854 chr6 116879313 116879313 G A rs370109293 CALHM4 Nonsynonymous SNV G295E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 280855 chr10 103990735 103990735 G T rs556650286 PITX3 Nonsynonymous SNV P149T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 280856 chr1 152327320 152327320 G A rs370804010 FLG2 Nonsynonymous SNV S981L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.83 280857 chr10 105215452 105215452 C T rs753431247 CALHM1 Nonsynonymous SNV R203H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 280858 chr1 153520256 153520256 C - rs11390146 S100A3 V70Wfs*83 0 0.005 0 0 0 2 0 0 0 0 0 0 280859 chr1 153945876 153945876 G A rs150049615 CREB3L4 Nonsynonymous SNV R278H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 280860 chr1 153914461 153914461 G A rs758209461 DENND4B Synonymous SNV R324R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.247 280861 chr1 154934091 154934091 G A rs770332564 LOC101928120 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 280862 chr6 150141728 150141728 G A LRP11 Nonsynonymous SNV T487I 0 0 0.007 1 0 0 0.003 2 0 0 0 0 30 280863 chr1 155265285 155265285 G C PKLR Synonymous SNV P150P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.335 280864 chr1 156262813 156262813 C T GLMP Nonsynonymous SNV G329E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.759 280865 chrX 125955218 125955218 T C rs778375928 PRR32 Synonymous SNV N199N 0.001 0 0 2 1 0 0.005 0 0 0 0 1 0.006 280866 chr6 152690209 152690209 C T rs777734905 SYNE1 Synonymous SNV E3242E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 280867 chrX 148037405 148037405 G C rs200450195 AFF2 Nonsynonymous SNV L251F 0 0 0 2 0 0 0.005 0 0 0 0 1 Uncertain significance 22.2 280868 chr1 158368632 158368632 T C rs201456851 OR10T2 Nonsynonymous SNV M209V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.002 280869 chr10 125780752 125780752 - GG CHST15 Frameshift insertion R456Pfs*29 0.002 0 0 0 2 0 0 0 1 0 0 0 280870 chr1 158747249 158747249 C T OR6N2 Nonsynonymous SNV M59I 0 0.005 0 0 0 2 0 0 0 0 0 0 26.9 280871 chr19 36510227 36510227 C T rs757678778 LOC101927572 Nonsynonymous SNV A47V 0.001 0 0 3 1 0 0.008 0 0 0 0 0 2.018 280872 chr1 160063723 160063723 G A rs761933043 IGSF8 Synonymous SNV A227A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 280873 chr1 159558457 159558457 A G rs759555245 APCS Nonsynonymous SNV I211V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 280874 chr15 100537749 100537749 T C rs563938783 ADAMTS17 Synonymous SNV K879K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.882 280875 chr1 160914905 160914905 C T rs200257125 LOC101928372 0.001 0 0 0 1 0 0 0 0 0 0 0 3.08 280876 chr1 162825059 162825059 C T rs756342720 CCDC190 Synonymous SNV K135K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.861 280877 chr1 170695446 170695446 A C rs201661471 PRRX1 Nonsynonymous SNV Y168S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.36 280878 chr6 28104878 28104878 C T rs181958398 ZSCAN16-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.671 280879 chr1 171756946 171756946 C T rs369151040 EEF1AKNMT Synonymous SNV S239S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 280880 chr6 33647895 33647895 G A ITPR3 Synonymous SNV E1403E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.025 280881 chr6 34508840 34508840 G A rs143263449 SPDEF Synonymous SNV A185A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.87 280882 chr6 40360063 40360063 C T rs546821870 LRFN2 Synonymous SNV L663L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.642 280883 chr16 2827117 2827117 G A rs559371069 ELOB Synonymous SNV L5L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 280884 chr1 186024657 186024657 C G rs376055523 HMCN1 Nonsynonymous SNV P2332R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 280885 chr16 3108936 3108936 C A MMP25 Nonsynonymous SNV P509H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 280886 chr10 3190075 3190075 T C rs546329610 PITRM1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.3 280887 chr16 4242321 4242321 G C rs372986062 SRL Nonsynonymous SNV Q419E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 280888 chr6 44253994 44253994 G C rs201482990 TCTE1 Nonsynonymous SNV R185G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.312 280889 chr16 4942155 4942155 G A rs780189514 PPL Synonymous SNV G570G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.053 280890 chr16 7568173 7568173 C G rs149974858 RBFOX1 Nonsynonymous SNV P38A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 280891 chr16 16248623 16248623 C G ABCC6 Nonsynonymous SNV R1357P 0.001 0 0 0 1 0 0 0 0 0 0 0 30 280892 chr16 20781388 20781388 G A rs756159393 ACSM3 Nonsynonymous SNV R11H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.247 280893 chr1 207196619 207196619 G A rs777729690 C1orf116 Nonsynonymous SNV L164F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 280894 chr1 12835790 12835790 G T rs745324749 PRAMEF12 Nonsynonymous SNV R131L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.848 280895 chr6 7565753 7565753 C T rs766580649 DSP Synonymous SNV S313S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.73 280896 chr1 215972257 215972257 C T rs140746096 USH2A Nonsynonymous SNV R3317H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.913 280897 chr1 215987175 215987175 A G USH2A Synonymous SNV F3214F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 280898 chr1 214542937 214542937 C T rs181559516 PTPN14 Nonsynonymous SNV R1045Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 280899 chr16 29821429 29821429 A G rs201662748 MAZ Synonymous SNV A132A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 280900 chr16 31447995 31447995 C T rs936300255 ZNF843 Nonsynonymous SNV R59Q 0.002 0 0 0 2 0 0 0 0 0 0 0 14.2 280901 chr1 223989953 223989953 G A rs372619455 TP53BP2 Nonsynonymous SNV R364W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280902 chr19 52919729 52919729 A G ZNF528 Nonsynonymous SNV I542V 0 0 0 2 0 0 0.005 0 0 0 0 0 1.228 280903 chr11 126283542 126283542 C T rs202114379 ST3GAL4 Nonsynonymous SNV A304V 0.003 0 0 0 4 0 0 0 0 0 0 0 15.99 280904 chr10 99132856 99132856 G A rs201494564 RRP12 Nonsynonymous SNV R610C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 280905 chr7 103234816 103234816 G A rs199705497 RELN Synonymous SNV S1221S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.386 280906 chr7 103969393 103969393 A T rs772198183 LHFPL3 Nonsynonymous SNV I56F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 280907 chr1 247614556 247614556 C T rs150630761 OR2B11 Synonymous SNV G243G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.415 280908 chr1 248039446 248039446 A G rs189094570 TRIM58 Synonymous SNV E372E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 280909 chr7 127235693 127235693 T C rs201501110 FSCN3 Synonymous SNV A159A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 280910 chr1 162467843 162467843 C T rs138206939 UHMK1 Nonsynonymous SNV A18V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 280911 chr7 128415831 128415831 G A rs185373190 OPN1SW Nonsynonymous SNV S5L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 280912 chr1 167802286 167802286 C T ADCY10 Nonsynonymous SNV V1025I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 280913 chr16 88497599 88497599 T C ZNF469 Nonsynonymous SNV F1241L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 280914 chr1 248366999 248366999 T G OR2M3 Synonymous SNV P210P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 280915 chr7 135261834 135261834 A G rs61751960 NUP205 Synonymous SNV L202L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 5.771 280916 chr16 89293324 89293324 A T ZNF778 Nonsynonymous SNV T182S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.217 280917 chr16 89294679 89294679 C T rs367933230 ZNF778 Synonymous SNV I633I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 280918 chr11 10650365 10650365 C T rs756664732 MRVI1 Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 280919 chr7 143174993 143174993 G A rs751153552 TAS2R41 Nonsynonymous SNV V10M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 280920 chr16 90109622 90109622 C T rs555627699 GAS8 Nonsynonymous SNV R244C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 280921 chr2 25467198 25467198 G A rs775908350 DNMT3A Synonymous SNV C407C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.95 280922 chr11 111395673 111395673 A G rs114729790 C11orf88 Synonymous SNV Q135Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 280923 chr11 111411608 111411608 G A rs11213935 LAYN Nonsynonymous SNV V14M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.934 280924 chr2 29274650 29274650 G A TOGARAM2 Synonymous SNV K726K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 280925 chr17 3664811 3664811 A G ITGAE Nonsynonymous SNV C107R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 280926 chr2 38178750 38178753 AACT - RMDN2 L132Vfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 280927 chr2 40656130 40656130 G A SLC8A1 Nonsynonymous SNV R431C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 280928 chr2 28788189 28788189 G A rs765559609 PLB1 Nonsynonymous SNV V428I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 21.4 280929 chr2 48132768 48132779 GGCTGCTGCGGG - FBXO11 Q29_P32del 0.001 0 0 0 1 0 0 0 0 0 0 0 280930 chr2 48725667 48725667 G T PPP1R21 Nonsynonymous SNV E545D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 280931 chr2 32422820 32422820 G A rs755069292 SLC30A6 Nonsynonymous SNV R123Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 280932 chr2 51254843 51254843 T C rs200792504 NRXN1 Nonsynonymous SNV N190S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.36 280933 chr2 39559102 39559102 T C rs143379560 MAP4K3 Synonymous SNV T162T 0 0.005 0 0 0 2 0 0 0 0 0 0 8.902 280934 chr2 43571360 43571360 T C rs367984894 THADA Nonsynonymous SNV Q1415R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.63 280935 chr17 7352014 7352014 C T rs199875082 CHRNB1 Nonsynonymous SNV R243C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 280936 chr2 65216825 65216825 G A rs375265345 SLC1A4 Synonymous SNV A16A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 280937 chr2 44223080 44223080 C G rs200686732 LRPPRC Nonsynonymous SNV A3P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 280938 chr11 125452270 125452276 TTATTCA - EI24 S236Qfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 280939 chr10 98469711 98469711 C T PIK3AP1 Nonsynonymous SNV V15I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.55 280940 chr2 54873444 54873444 G C SPTBN1 Nonsynonymous SNV R1553S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.29 280941 chr2 73315658 73315658 G A rs201939228 RAB11FIP5 Nonsynonymous SNV P363L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 280942 chr1 216880703 216880703 T C rs549007923 ESRRG Synonymous SNV K23K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.029 280943 chr17 10219245 10219245 A G rs773824073 MYH13 Nonsynonymous SNV M1279T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 280944 chr11 128838970 128838970 C T rs117353412 ARHGAP32 Synonymous SNV L1683L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.4 280945 chr7 45931558 45931558 G A rs1065782 IGFBP1 Nonsynonymous SNV V183I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 280946 chr2 86332883 86332883 T C rs764413159 POLR1A Nonsynonymous SNV N6S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 280947 chr1 226109623 226109623 A G rs752525725 PYCR2 Nonsynonymous SNV C159R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.4 280948 chr1 226175962 226175962 C T rs182179659 SDE2 Nonsynonymous SNV E257K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.9 280949 chr20 50092091 50092091 G A rs145327846 NFATC2 Nonsynonymous SNV T460M 0 0 0 3 0 0 0.008 0 0 0 0 0 29.7 280950 chr7 48311685 48311685 G A rs761223867 ABCA13 Nonsynonymous SNV G808R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.413 280951 chr2 97166561 97166561 C G NEURL3 Synonymous SNV T43T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.589 280952 chr2 97507880 97507880 C G rs920969428 ANKRD23 Nonsynonymous SNV A73P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 280953 chr7 5112625 5112625 G A rs758212050 RBAKDN 0 0 0.003 0 0 0 0 1 0 0 0 0 2.435 280954 chr1 229772490 229772490 C T rs758367090 URB2 Synonymous SNV S710S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.515 280955 chr1 230415088 230415088 G A rs141375194 GALNT2 Nonsynonymous SNV V496M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 280956 chr7 64452081 64452081 T C rs199665706 ERV3-1 Nonsynonymous SNV I442V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.389 280957 chr2 84881882 84881882 T C rs558537145 DNAH6 Synonymous SNV T1911T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.877 280958 chr7 66094104 66094104 T G rs777578179 KCTD7 Nonsynonymous SNV M18R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 280959 chr2 88125220 88125220 C A rs780382529 RGPD2 Nonsynonymous SNV R10L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 280960 chr20 61525251 61525251 C T rs746494906 DIDO1 Synonymous SNV G956G 0 0 0 3 0 0 0.008 0 0 0 0 0 13.05 280961 chr7 75513079 75513079 C T rs782338853 RHBDD2 Nonsynonymous SNV T81I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 280962 chr2 97369083 97369083 G A rs374432341 FER1L5 Synonymous SNV S1897S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.69 280963 chr2 100906744 100906744 G T LONRF2 Nonsynonymous SNV D632E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 280964 chr2 100906810 100906810 G A LONRF2 Synonymous SNV D610D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.865 280965 chr1 111490837 111490837 C T rs142104111 LRIF1 Nonsynonymous SNV S149N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.34 280966 chr2 120199149 120199149 G T rs140028312 SCTR Stop gain C389X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 280967 chr11 1093412 1093412 C T rs113330607 MUC2 Nonsynonymous SNV T1744M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.101 280968 chr7 86688760 86688760 C G KIAA1324L Nonsynonymous SNV G24R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 280969 chr2 102019015 102019015 G A rs750302756 RFX8 Synonymous SNV S205S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.55 280970 chr7 90895557 90895557 G A FZD1 Synonymous SNV V454V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.683 280971 chr2 131890589 131890589 G C rs374524883 PLEKHB2 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 280972 chr21 30250595 30250595 C T rs199763184 N6AMT1 Nonsynonymous SNV D125N 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 280973 chr17 38954546 38954546 C T KRT28 Nonsynonymous SNV E211K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 280974 chr8 106815676 106815676 G A rs756634270 ZFPM2 Synonymous SNV R1069R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.325 280975 chr8 107781836 107781836 C T ABRA Nonsynonymous SNV G195S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 280976 chr8 110408291 110408291 C T rs201161726 PKHD1L1 Stop gain R283X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 280977 chr11 47264339 47264339 G A rs369759837 ACP2 Nonsynonymous SNV T295I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 280978 chr8 125035815 125035815 G A rs774292939 FER1L6 Synonymous SNV K755K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 280979 chr21 43291618 43291618 G A rs75635009 PRDM15 Nonsynonymous SNV P176S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 4.427 280980 chr8 12594276 12594276 A G rs779011681 LONRF1 Nonsynonymous SNV L462S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 280981 chr21 43708109 43708109 G A rs781438237 ABCG1 Nonsynonymous SNV E362K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 21.8 280982 chr2 166859087 166859087 A T SCN1A Nonsynonymous SNV H1393Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.617 280983 chr8 130760823 130760823 C T rs374835768 GSDMC Stop gain W484X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 280984 chr2 15359023 15359030 CGGCCAGG - NBAS A2100Gfs*19 0.003 0.003 0 0 3 1 0 0 0 0 0 0 280985 chr17 40120475 40120475 G A rs201726873 CNP Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.858 280986 chr2 16085618 16085618 A G rs751108330 MYCN Nonsynonymous SNV D54G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.8 280987 chr2 18113465 18113465 T C rs750904358 KCNS3 Nonsynonymous SNV V397A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.6 280988 chr17 41931337 41931337 - C rs760923345 CD300LG Frameshift insertion M184Hfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 280989 chr11 125647307 125647307 A G rs200447620 PATE2 Synonymous SNV S104S 0.001 0 0 0 1 0 0 0 0 0 0 0 7 280990 chr11 125647830 125647830 G A rs138150511 PATE2 Synonymous SNV S48S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.637 280991 chr2 179597437 179597437 T C rs760722200 TTN Nonsynonymous SNV S4207G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.22 280992 chr17 48263689 48263689 C T rs754984293 COL1A1 Nonsynonymous SNV D1332N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 280993 chr2 186661596 186661596 A C rs556201890 FSIP2 Synonymous SNV R3245R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 280994 chr2 197629304 197629304 T C rs138117722 GTF3C3 Nonsynonymous SNV T882A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 280995 chr22 24108321 24108321 A G rs145649831 CHCHD10 Nonsynonymous SNV Y142H 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 15.09 280996 chr2 191873773 191873773 C T rs758357489 STAT1 Synonymous SNV Q63Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.23 280997 chr2 206305106 206305106 A C PARD3B Nonsynonymous SNV K849N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 280998 chr2 201355228 201355228 C T rs369656416 KCTD18 Synonymous SNV S292S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.54 280999 chr2 131096784 131096784 A G rs556764590 CCDC115 Nonsynonymous SNV I146T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 281000 chr17 67008221 67008221 G C ABCA9 Nonsynonymous SNV H1015D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.047 281001 chr2 204111582 204111582 G A rs777630188 CYP20A1 Nonsynonymous SNV R76H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 281002 chr8 21964944 21964944 C A rs201204920 NUDT18 Nonsynonymous SNV S280I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.29 281003 chr8 21978313 21978313 T G rs371431900 HR Synonymous SNV P842P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.006 281004 chr11 55904449 55904449 G A rs911728964 OR8J3 Nonsynonymous SNV T249M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 281005 chr2 204305428 204305428 G C rs757650371 RAPH1 Nonsynonymous SNV P829A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.239 281006 chr8 21980352 21980352 G A rs78939934 HR Synonymous SNV A652A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 281007 chr8 21983134 21983134 T C rs112016555 HR Nonsynonymous SNV E506G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.49 281008 chr8 22006351 22006351 C T rs148277988 LGI3 Synonymous SNV P323P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.529 281009 chr22 30951965 30951965 T C GAL3ST1 Nonsynonymous SNV T83A 0 0 0 2 0 0 0.005 0 0 0 0 0 19.97 281010 chr2 216240047 216240047 G A rs139452116 FN1 Nonsynonymous SNV P1835L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281011 chr2 210806162 210806162 C T UNC80 Synonymous SNV N2222N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 281012 chr17 72560121 72560121 C T rs137923695 CD300H, LOC100130520 Nonsynonymous SNV E119K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.169 281013 chr2 218674974 218674974 C T rs779186665 TNS1 Nonsynonymous SNV A1576T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281014 chr2 217543673 217543673 C T rs201801158 IGFBP5 Nonsynonymous SNV R156H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 281015 chr8 27516746 27516746 C T rs373760285 SCARA3 Synonymous SNV H353H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 281016 chr11 36615453 36615453 T C rs745913815 RAG2 Nonsynonymous SNV H89R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 281017 chr2 219290476 219290476 C T VIL1 Nonsynonymous SNV R97C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 281018 chr1 177936891 177936891 G T CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV P76T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.18 281019 chr11 420771 420771 T C ANO9 Nonsynonymous SNV Y383C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 281020 chr8 38696042 38696042 C T rs757064536 TACC1 Nonsynonymous SNV R222W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 281021 chr17 76447592 76447592 C T rs533199501 DNAH17 Nonsynonymous SNV A3565T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 281022 chr2 220435695 220435695 C T OBSL1 Nonsynonymous SNV R87H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 281023 chr8 57302693 57302693 T A rs7001867 SDR16C6P 0 0 0.007 0 0 0 0 2 0 0 0 0 11 281024 chr17 78079615 78079615 C T rs775065551 GAA Nonsynonymous SNV P205L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.012 281025 chr2 232601970 232601970 T C PDE6D Nonsynonymous SNV N100D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 281026 chr17 79684798 79684798 C T rs200232975 SLC25A10 Synonymous SNV D213D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.42 281027 chr17 80115722 80115722 C T rs548915811 CCDC57 Nonsynonymous SNV E223K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 281028 chr2 241810831 241810831 G A rs147601535 AGXT Synonymous SNV L163L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.733 281029 chrX 17394364 17394364 C T rs745648326 NHS Nonsynonymous SNV R162C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 281030 chr2 242148972 242148972 G A rs147198890 ANO7 Synonymous SNV T427T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.5 281031 chr2 242148787 242148787 C T rs142622065 ANO7 Nonsynonymous SNV R389W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 281032 chr9 114989753 114989753 C T rs780034162 PTBP3 Synonymous SNV P367P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 281033 chr9 115759622 115759622 T C rs184048601 ZNF883 Synonymous SNV T306T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.298 281034 chr3 4776961 4776961 G A rs748904417 ITPR1 Nonsynonymous SNV A1760T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.56 281035 chrX 35988897 35988897 A G rs202103542 CFAP47 Synonymous SNV T609T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 0.002 281036 chrX 47104245 47104245 C T USP11 Nonsynonymous SNV R670C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 281037 chr18 28909930 28909930 A G rs140424661 DSG1 Nonsynonymous SNV I150V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.578 281038 chr9 117848688 117848688 T C rs142220270 TNC Nonsynonymous SNV N441S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 281039 chr3 9988933 9988933 C G PRRT3 Nonsynonymous SNV V642L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 281040 chr3 10268063 10268063 C T rs370330892 IRAK2 Synonymous SNV A406A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 281041 chr18 31323942 31323942 C G ASXL3 Nonsynonymous SNV P1377R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 281042 chr3 13381465 13381465 C T rs113775377 NUP210 Synonymous SNV A1120A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.56 281043 chr3 13381525 13381525 G A rs112614885 NUP210 Synonymous SNV S1100S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.21 281044 chr3 13384786 13384786 C T rs113555552 NUP210 Synonymous SNV P951P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 281045 chr18 33767509 33767509 G C rs576409195 MOCOS Nonsynonymous SNV G3R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 281046 chr9 124585008 124585008 C G TTLL11 Nonsynonymous SNV R754P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 281047 chr3 13612293 13612293 C T rs200715296 FBLN2 Synonymous SNV Y146Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.889 281048 chr18 34298448 34298448 G A rs560946106 FHOD3 Nonsynonymous SNV A871T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.03 281049 chr18 34380220 34380220 T C rs899664024 TPGS2 Nonsynonymous SNV E103G 0.001 0 0 0 1 0 0 0 0 0 0 0 30 281050 chr3 14801433 14801433 C A rs201581250 C3orf20 Nonsynonymous SNV D638E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 281051 chr3 15070169 15070169 A G rs142370279 NR2C2 Nonsynonymous SNV N292S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.7 281052 chr9 127118881 127118881 A G rs567345359 LOC100129034 0 0 0.003 0 0 0 0 1 0 0 0 0 6.832 281053 chrX 101909813 101909813 G A rs199860317 GPRASP1 Synonymous SNV G324G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.33 281054 chrX 123504043 123504043 T A SH2D1A Nonsynonymous SNV H73Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.16 281055 chr11 68207285 68207285 G T LRP5 Synonymous SNV L882L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 281056 chr3 43097768 43097768 G A rs866865751 GASK1A Nonsynonymous SNV G540R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 281057 chr9 137741971 137741971 G T rs763002680 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 1.378 281058 chr9 137741987 137741987 G A rs74405398 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 0.302 281059 chr9 137741995 137742018 GATCACACCTCCCAGGAACCACAA - rs781621850 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 281060 chr1 231829701 231829701 G A DISC1 Nonsynonymous SNV R66Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.321 281061 chr9 139400040 139400040 G A rs749702298 NOTCH1 Synonymous SNV A1436A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.45 281062 chr18 77895960 77895960 G A ADNP2 Synonymous SNV E888E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 281063 chr3 47452953 47452953 G A rs767078470 PTPN23 Nonsynonymous SNV R1096Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 281064 chr9 139925598 139925598 C G rs200261090 FUT7 Nonsynonymous SNV R198P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.088 281065 chr3 48630971 48630971 T C rs121912856 COL7A1 Nonsynonymous SNV K142R 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 23.1 281066 chr3 49308630 49308630 - A rs770152175 C3orf62 Stop gain K263* 0.001 0 0 0 1 0 0 0 0 0 0 0 281067 chr9 140510549 140510549 G A rs546393108 ARRDC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.17 281068 chr11 62289086 62289086 C T rs775430900 AHNAK Nonsynonymous SNV G4268D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 281069 chr9 14842607 14842607 C T rs373753929 FREM1 Nonsynonymous SNV R482H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 281070 chr9 17135179 17135179 C T CNTLN Nonsynonymous SNV S39L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 281071 chr3 51975822 51975822 G T rs375136418 RRP9 Nonsynonymous SNV A21E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.011 281072 chr3 52858242 52858242 G C rs139446158 ITIH4 Nonsynonymous SNV L379V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.84 281073 chr3 56628033 56628033 C T rs150364083 CCDC66 Stop gain R428X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 281074 chr11 93212182 93212182 G C SMCO4 Synonymous SNV T58T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.738 281075 chr9 34557896 34557896 A T CNTFR Nonsynonymous SNV Y136N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 281076 chr3 52950203 52950203 C A rs149793544 SFMBT1 Nonsynonymous SNV E481D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 281077 chr9 35295719 35295719 G T UNC13B Nonsynonymous SNV D185Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 281078 chr9 36122904 36122904 C G RECK Synonymous SNV L926L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 281079 chr19 3744019 3744019 G A TJP3 Synonymous SNV Q642Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.602 281080 chr9 37948640 37948640 G C rs780605722 SHB Synonymous SNV L446L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.609 281081 chr3 62570979 62570979 C T rs376595440 CADPS Synonymous SNV P486P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 281082 chr9 5361867 5361867 G A rs778931477 PLGRKT Stop gain Q35X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 281083 chr1 10713662 10713662 G A rs376768786 CASZ1 Nonsynonymous SNV P818S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.507 281084 chr3 81586230 81586230 A G rs780741533 GBE1 Synonymous SNV H545H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.229 281085 chr3 68929941 68929941 C T TAFA4 Nonsynonymous SNV V24M 0.001 0 0 0 1 0 0 0 0 0 0 0 22 281086 chr9 71606164 71606164 C T rs190587386 PIP5K1B Synonymous SNV D537D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 281087 chr1 12012769 12012769 A G rs886045201 PLOD1 Nonsynonymous SNV I186V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.23 281088 chr2 3599857 3599857 T A rs138292342 RNASEH1 Nonsynonymous SNV S70C 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 5.124 281089 chr19 5771084 5771084 G A rs201789484 CATSPERD 0.001 0 0 0 1 0 0 0 0 0 0 0 21 281090 chr1 16065816 16065816 G C rs201766813 SLC25A34 Nonsynonymous SNV R277P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 281091 chr3 110837678 110837678 G A rs148212762 NECTIN3 Synonymous SNV T226T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.57 281092 chr2 233387823 233387823 G A rs575712686 PRSS56 Nonsynonymous SNV D254N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 281093 chr3 111688635 111688635 T C rs767766558 PHLDB2 Synonymous SNV H1095H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.704 281094 chr2 236659035 236659035 C T rs148699717 AGAP1 Synonymous SNV D192D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 281095 chr3 113331001 113331001 C G SIDT1 Synonymous SNV A580A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 281096 chr3 119133553 119133553 C T rs771980065 ARHGAP31 Nonsynonymous SNV A926V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 281097 chr3 120394646 120394646 T G rs760729411 HGD Nonsynonymous SNV E27A 0 0.005 0 0 0 2 0 0 0 0 0 0 15.17 281098 chrX 135310836 135310836 C T rs192547609 MAP7D3 Nonsynonymous SNV R576H 0 0 0.007 0 0 0 0 2 0 0 1 0 25.6 281099 chrX 153005678 153005678 T C ABCD1 Nonsynonymous SNV Y541H 0 0 0.007 0 0 0 0 2 0 0 1 0 26.6 281100 chr3 123411698 123411698 C T MYLK Nonsynonymous SNV G974D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 281101 chr3 124449438 124449438 G T UMPS Synonymous SNV L40L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.83 281102 chr11 76956539 76956539 T C GDPD4 Synonymous SNV P291P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.924 281103 chr12 124123839 124123839 A G rs752005073 GTF2H3 Synonymous SNV V14V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.563 281104 chr3 124689643 124689643 A T rs755985532 HEG1 Synonymous SNV P1333P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.184 281105 chr3 126260867 126260867 G A rs868823115 CHST13 Nonsynonymous SNV A158T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.166 281106 chr1 27720702 27720702 C T rs745348385 GPR3 Nonsynonymous SNV R134C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 281107 chr3 129546712 129546712 T G TMCC1 Nonsynonymous SNV E56D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.547 281108 chr3 130442277 130442277 G A rs376932644 PIK3R4 Synonymous SNV Y654Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.761 281109 chrY 15448000 15448000 C T rs758077547 UTY Nonsynonymous SNV M579I 0 0 0.007 0 0 0 0 2 0 0 1 0 0.333 281110 chrY 2712133 2712133 A G RPS4Y1 Nonsynonymous SNV T33A 0 0 0.007 0 0 0 0 2 0 0 1 0 10.22 281111 chr3 132415578 132415578 G A rs748726027 NPHP3 Nonsynonymous SNV A723V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.788 281112 chr1 38034835 38034836 TG - GNL2 T312Rfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 281113 chr1 38259972 38259972 C T rs554207874 MANEAL Nonsynonymous SNV P40S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 281114 chr19 11978483 11978483 G A rs747820502 ZNF439 Nonsynonymous SNV S64N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 281115 chr2 45169352 45169352 G T rs199823175 SIX3 Nonsynonymous SNV G37C 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 16.05 281116 chr3 149688581 149688581 G A rs760132081 PFN2 Synonymous SNV A21A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.27 281117 chr1 40928437 40928437 A G ZFP69B Nonsynonymous SNV R261G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.29 281118 chr12 21665256 21665256 T C rs372300868 GOLT1B Synonymous SNV F108F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.319 281119 chr3 151451961 151451961 G A rs201924225 AADACL2 Synonymous SNV T46T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 281120 chr3 168845640 168845640 A G rs142578153 MECOM Synonymous SNV D86D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 2.917 281121 chr3 38357818 38357818 G A rs200370977 SLC22A14 Synonymous SNV A512A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.428 281122 chr3 170716937 170716937 C A rs76362149 SLC2A2 Nonsynonymous SNV A244S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 281123 chr3 172048457 172048457 A G rs138074657 FNDC3B Synonymous SNV S502S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 281124 chr19 17366404 17366404 C T rs370247799 USHBP1 Synonymous SNV A430A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 281125 chr3 180372720 180372720 C T CCDC39 Nonsynonymous SNV E254K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 281126 chr3 180685848 180685848 C T rs199510994 FXR1 Nonsynonymous SNV S403F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 281127 chr3 182988353 182988353 C T B3GNT5 Nonsynonymous SNV A256V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 281128 chr12 43826558 43826558 G A rs747942412 ADAMTS20 Nonsynonymous SNV T926I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 281129 chr3 46725339 46725339 C T rs749940843 ALS2CL 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 281130 chr3 188956594 188956594 C T rs140811282 TPRG1 Synonymous SNV Y125Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 281131 chr12 49392390 49392390 A C DDN Nonsynonymous SNV V90G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 281132 chr3 48732592 48732592 C T rs758603715 IP6K2 Nonsynonymous SNV V45I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.828 281133 chr3 193353254 193353254 A T OPA1 Nonsynonymous SNV E206D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 281134 chr3 50311895 50311895 G T rs782424976 SEMA3B Synonymous SNV L70L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 281135 chr10 19620316 19620316 C T rs774267325 MALRD1 Nonsynonymous SNV R1236C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 281136 chr12 52985302 52985302 G A rs112771714 KRT72 Synonymous SNV Y303Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.627 281137 chr10 27793348 27793348 G A RAB18 Nonsynonymous SNV S17N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 281138 chr4 997812 997812 A T IDUA Synonymous SNV T448T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.047 281139 chr1 85666498 85666498 G C SYDE2 Nonsynonymous SNV P61R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 281140 chr10 33559774 33559774 C T rs753783818 NRP1 Nonsynonymous SNV V87M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 281141 chr4 2321992 2321992 G A rs148804888 ZFYVE28 Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 281142 chr4 3037162 3037162 C T rs747003103 GRK4 Nonsynonymous SNV A246V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 281143 chr12 132334487 132334487 C G rs761152977 MMP17 Nonsynonymous SNV Q449E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.844 281144 chr4 3441203 3441203 G A rs778685762 RGS12 Nonsynonymous SNV R731Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.168 281145 chr12 132636729 132636729 T C rs200523825 NOC4L Nonsynonymous SNV L473P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 281146 chr4 3495011 3495011 A C DOK7 Nonsynonymous SNV D123A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 281147 chr1 94463631 94463631 T C rs886044762 ABCA4 Nonsynonymous SNV K2172R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 7.481 281148 chr10 50531053 50531053 A G C10orf71 Nonsynonymous SNV S155G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 281149 chr4 7735138 7735138 C T SORCS2 Synonymous SNV D1066D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.772 281150 chr19 37676706 37676706 T C ZNF585B Nonsynonymous SNV Y578C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 281151 chr19 37853714 37853714 T A rs147945768 ZNF875 Synonymous SNV T279T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 281152 chr1 109816256 109816256 A G CELSR2 Nonsynonymous SNV K2903R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.71 281153 chr4 15780048 15780048 G A CD38 Nonsynonymous SNV C4Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 281154 chr3 121208555 121208555 G A POLQ Nonsynonymous SNV P1075S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 281155 chr4 36307933 36307933 G C DTHD1 Nonsynonymous SNV Q298H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 281156 chr10 75277308 75277308 A G rs117462093 USP54 Nonsynonymous SNV V902A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.237 281157 chr10 75672059 75672059 G A rs55744193 PLAU Nonsynonymous SNV G41R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 9.936 281158 chr10 75673062 75673062 G A rs371297216 PLAU Nonsynonymous SNV R111Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.132 281159 chr10 8006880 8006880 C T rs370739825 TAF3 Synonymous SNV S469S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.199 281160 chr12 50746547 50746547 - GCCTGCTGAGTGGTGAGAGGCATCCCCAAGGCCTGGGCCTGCTGAGGGGTGAGAGTGATCTCCTGAGTCTGC FAM186A Q1357_E1358insTQEITLTPQQAQALGMPLTTQQAQ 0.001 0 0 0 1 0 0 0 0 0 0 0 281161 chr1 150249015 150249015 C T rs587657771 C1orf54 Nonsynonymous SNV T64I 0 0 0 1 0 0 0.003 0 0 0 0 0 15 281162 chr12 81010011 81010011 A C rs187900644 PTPRQ Synonymous SNV P1560P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.35 281163 chr1 151131473 151131473 G A TNFAIP8L2 Synonymous SNV T100T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 281164 chr3 130159535 130159535 C G COL6A5 Nonsynonymous SNV S2118C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 281165 chr1 152085243 152085243 C G rs570844934 TCHH Nonsynonymous SNV E150D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 281166 chr3 130327774 130327774 G A rs750010741 COL6A6 Nonsynonymous SNV G1573E 0.001 0 0 0 1 0 0 0 0 0 0 0 28 281167 chr14 24771584 24771584 A G rs763653807 NOP9 Nonsynonymous SNV N366S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 281168 chr10 96824647 96824647 C G CYP2C8 Nonsynonymous SNV Q82H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 281169 chr4 79856323 79856323 C T rs190190715 PAQR3 Synonymous SNV A100A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.57 281170 chr4 83406740 83406740 G A rs201791174 TMEM150C Nonsynonymous SNV S225F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 281171 chr1 157105438 157105438 G A rs777261550 ETV3 Synonymous SNV L37L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.773 281172 chr4 89361347 89361347 G A rs61738382 HERC6 Synonymous SNV Q893Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.248 281173 chr3 158537450 158537450 G A MFSD1 Nonsynonymous SNV C183Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 281174 chr11 1027976 1027976 G A MUC6 Nonsynonymous SNV P613S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.42 281175 chr14 64493374 64493374 G A rs779101206 SYNE2 Synonymous SNV P2110P 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 7.643 281176 chr4 107115892 107115892 A C TBCK Nonsynonymous SNV F564C 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 31 281177 chr4 110901983 110901983 A G rs141644661 EGF Synonymous SNV G699G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.735 281178 chr4 114267122 114267122 G T rs34591340 ANK2 Nonsynonymous SNV G615C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 281179 chr19 51837147 51837147 G A VSIG10L Synonymous SNV T824T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.93 281180 chr11 114112977 114112977 C T rs147709798 ZBTB16 Synonymous SNV G485G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 18.4 281181 chr11 116629055 116629055 G A rs539380545 BUD13 Nonsynonymous SNV R343C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 281182 chr4 126329731 126329731 C A FAT4 Nonsynonymous SNV T1901N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 281183 chr13 29600208 29600208 G A rs191121454 MTUS2 Nonsynonymous SNV R458Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 281184 chr13 32340161 32340161 A T rs780161582 RXFP2 Nonsynonymous SNV K165M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 281185 chr13 32802729 32802729 T C rs191219337 FRY Synonymous SNV D1781D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.191 281186 chr13 32911756 32911756 T C rs36060526 BRCA2 Synonymous SNV P1088P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.004 281187 chr13 32913910 32913910 A G rs34351119 BRCA2 Synonymous SNV E1806E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.095 281188 chr13 32929007 32929007 G C rs45574331 BRCA2 Nonsynonymous SNV K2339N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.52 281189 chr13 32929309 32929309 A G rs4986860 BRCA2 Nonsynonymous SNV H2440R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.01 281190 chr13 32972380 32972380 G A rs11571831 BRCA2 Nonsynonymous SNV V3244I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.034 281191 chr4 141320077 141320077 T C rs201814875 CLGN Nonsynonymous SNV N271S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 281192 chr4 144438529 144438529 C T SMARCA5 Nonsynonymous SNV P67S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 281193 chr4 154507429 154507429 T C rs370502462 TMEM131L Synonymous SNV A460A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.024 281194 chr13 41827139 41827139 T G rs766647996 MTRF1 Nonsynonymous SNV K179Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 281195 chr4 155254155 155254155 G A rs149462928 DCHS2 Synonymous SNV L1069L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.209 281196 chr4 155254156 155254156 C T rs143911538 DCHS2 Synonymous SNV V1068V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.68 281197 chr4 157891983 157891983 T G PDGFC Nonsynonymous SNV N25H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.648 281198 chr4 1345557 1345557 G A rs200745723 UVSSA Nonsynonymous SNV E162K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 281199 chr19 54973904 54973904 T G LENG9 Nonsynonymous SNV E291A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 281200 chr4 185687129 185687129 G A rs61610832 ACSL1 Synonymous SNV G391G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.452 281201 chr4 5830278 5830278 G A rs146163071 CRMP1 Nonsynonymous SNV R581C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281202 chr4 186366211 186366211 G A C4orf47 Nonsynonymous SNV D144N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.342 281203 chr11 1272054 1272054 C T rs11827719 MUC5B Synonymous SNV T4648T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 10.84 281204 chr1 202104616 202104616 T A rs61758714 ARL8A Synonymous SNV A137A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.85 281205 chr1 202119546 202119546 C G rs4950772 PTPN7 Synonymous SNV G294G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.57 281206 chr1 202287250 202287250 G A rs139694106 LGR6 Nonsynonymous SNV A468T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 281207 chr11 134240264 134240264 C G GLB1L2 Nonsynonymous SNV L396V 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 281208 chr13 114762185 114762185 G A rs540632406 RASA3 Synonymous SNV L623L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.167 281209 chr1 204518437 204518437 C T rs201947927 MDM4 Nonsynonymous SNV S41L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 281210 chr19 57061450 57061450 C T rs147562974 ZFP28 Synonymous SNV I234I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.681 281211 chr1 205631155 205631155 G A rs749328062 SLC45A3 Nonsynonymous SNV A353V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.8 281212 chr5 7706902 7706902 C T rs35209447 ADCY2 Synonymous SNV G385G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 281213 chr5 24488263 24488263 C T rs750366779 CDH10 0 0.005 0 0 0 2 0 0 0 1 0 0 24.8 281214 chr1 208390716 208390716 G A rs375861967 PLXNA2 Synonymous SNV I184I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.346 281215 chr5 16818207 16818207 C T MYO10 Nonsynonymous SNV G64S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 281216 chr19 58907571 58907571 G A RNF225 Nonsynonymous SNV E39K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 281217 chr19 59061697 59061697 G A rs372842280 MIR6807 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 281218 chr11 26734196 26734196 C T SLC5A12 Nonsynonymous SNV V133I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.74 281219 chr5 37198880 37198880 C T rs569380288 CPLANE1 Nonsynonymous SNV R1199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 281220 chr5 41172429 41172429 T C rs6896011 C6 Nonsynonymous SNV K397E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 0.001 281221 chr2 238287580 238287580 C T rs768242367 COL6A3 Synonymous SNV T325T 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.421 281222 chr14 23517261 23517261 C T rs892706026 CDH24 Synonymous SNV P758P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 281223 chr13 49281640 49281640 A C rs200593429 CYSLTR2 Nonsynonymous SNV L229F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 281224 chr11 34165044 34165044 G A rs142960948 NAT10 Nonsynonymous SNV G908R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 281225 chr5 66481698 66481698 T C rs756714701 CD180 Nonsynonymous SNV T80A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 281226 chr5 70786828 70786828 A C rs775156678 BDP1 Synonymous SNV R504R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 281227 chr1 229654605 229654605 G C rs115501701 ABCB10 Synonymous SNV L656L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.457 281228 chr1 229685107 229685107 C T ABCB10 Nonsynonymous SNV V198I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.74 281229 chr1 229730782 229730782 T C rs35015425 TAF5L Synonymous SNV P344P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 281230 chr11 47364187 47364187 C T rs376041792 MYBPC3 Synonymous SNV A522A 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.95 281231 chr11 47367871 47367871 C T rs34580776 MYBPC3 Nonsynonymous SNV R326Q 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 Benign/Likely benign 24 281232 chr14 36158048 36158048 T C RALGAPA1 Nonsynonymous SNV N1143S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 2.486 281233 chr5 73048867 73048867 G A rs191563093 ARHGEF28 Synonymous SNV T105T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.714 281234 chr1 231762637 231762637 C T DISC1 Synonymous SNV G8G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 281235 chr5 74442499 74442499 T C rs187449283 ANKRD31 Nonsynonymous SNV I913V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 281236 chr1 236719189 236719189 C T HEATR1 Nonsynonymous SNV M1855I 0 0 0 1 0 0 0.003 0 0 0 0 0 32 281237 chr20 20563738 20563738 C T rs752707517 RALGAPA2 Nonsynonymous SNV R888H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 281238 chr5 79027809 79027809 C T rs777880979 CMYA5 Nonsynonymous SNV P1074L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 281239 chr20 23858213 23858213 G A rs572646770 CST5 Stop gain R92X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 281240 chr1 240963971 240963971 C T rs199591879 RGS7 Synonymous SNV L417L 0 0 0 2 0 0 0.005 0 0 0 0 0 18.12 281241 chr5 89975409 89975409 G A ADGRV1 Synonymous SNV G1829G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 281242 chr20 33588381 33588381 T C MYH7B Synonymous SNV A1731A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 281243 chr14 60039532 60039532 C T CCDC175 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 281244 chr14 60923752 60923752 C G rs759940478 C14orf39 Nonsynonymous SNV R414T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 281245 chr20 43090540 43090540 A G LINC01620 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 281246 chr11 55371059 55371059 G C rs187050403 OR4C11 Nonsynonymous SNV P264R 0 0.005 0.003 0 0 2 0 1 0 1 0 0 11.11 281247 chr14 65216074 65216074 C T rs536702051 SPTB Nonsynonymous SNV G2313S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 281248 chr14 67626174 67626174 A T GPHN Nonsynonymous SNV I594F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 281249 chr20 43803564 43803564 A G rs761507163 PI3 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 281250 chr11 55606840 55606840 G T rs762537480 OR5D16 Nonsynonymous SNV A205S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.41 281251 chr1 248789746 248789746 A G rs151333591 OR2T11 Synonymous SNV A228A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 281252 chr5 114598525 114598525 C A rs41296573 PGGT1B Nonsynonymous SNV R8S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.82 281253 chr4 126239280 126239280 C A rs767995663 FAT4 Nonsynonymous SNV L572I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.457 281254 chr5 132032371 132032371 C T KIF3A Synonymous SNV K685K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 281255 chr5 131721178 131721178 G A rs143013773 SLC22A5 Nonsynonymous SNV V271M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.2 281256 chr5 134785434 134785434 T G rs760971378 TIFAB Nonsynonymous SNV K66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.44 281257 chr20 50401051 50401051 T C SALL4 Nonsynonymous SNV Y535C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 281258 chr11 58295636 58295636 A G rs185960516 LPXN Synonymous SNV Y237Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.532 281259 chr5 140362125 140362125 C G rs79247475 PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2 Nonsynonymous SNV P853R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 28.2 281260 chr11 58920294 58920294 C T rs138457522 FAM111A Nonsynonymous SNV H385Y 0 0 0.007 0 0 0 0 2 0 0 0 0 27.2 281261 chr5 140784538 140784538 T C PCDHGA9 Synonymous SNV A673A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.409 281262 chr5 141337060 141337060 G T PCDH12 Synonymous SNV I119I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 281263 chr5 145214776 145214776 G A rs754531732 PRELID2 Synonymous SNV Y13Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 281264 chr5 145895097 145895097 C T rs758646176 GPR151 Nonsynonymous SNV V194M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.192 281265 chr20 62324211 62324211 C T rs116788553 RTEL1 Synonymous SNV A679A 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 12.53 281266 chr15 101436031 101436031 G A rs575109207 LOC101927751 0.001 0 0 0 1 0 0 0 0 0 0 0 0.409 281267 chr15 101436087 101436087 G A rs76136338 LOC101927751 0.001 0 0 0 1 0 0 0 0 0 0 0 1.796 281268 chr11 62571268 62571268 G A rs745492057 NXF1 Stop gain R71X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 281269 chr11 62751958 62751958 G A rs147795711 SLC22A6 Nonsynonymous SNV R69W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 281270 chr21 31802724 31802724 G T KRTAP13-4 Nonsynonymous SNV R44L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 281271 chr2 48914999 48914999 C T rs145722516 LHCGR Nonsynonymous SNV R646H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.969 281272 chr5 151150268 151150268 A G rs1054523180 LOC100652758 0.001 0.005 0 0 1 2 0 0 0 0 0 0 2.694 281273 chr5 16616987 16616987 C G RETREG1 Nonsynonymous SNV A32P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.62 281274 chr15 40294972 40294972 G A rs763201863 EIF2AK4 Nonsynonymous SNV R1073H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281275 chr5 156926605 156926605 G A rs114344861 ADAM19 Synonymous SNV H458H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.441 281276 chr5 172661999 172661999 C A NKX2-5 Nonsynonymous SNV A30S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 281277 chr21 43710234 43710234 G T ABCG1 Synonymous SNV G445G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.608 281278 chr3 97618094 97618094 G A rs372677956 CRYBG3 Nonsynonymous SNV R2653Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 281279 chr3 98073197 98073197 C T rs200319864 OR5K4 Nonsynonymous SNV T167I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.83 281280 chr3 100962860 100962860 G A IMPG2 Nonsynonymous SNV T772I 0 0 0 2 0 0 0.005 0 0 0 0 0 10.71 281281 chr15 52029805 52029805 C A rs144333452 LYSMD2 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 281282 chr21 47863729 47863729 G A rs113591604 PCNT Nonsynonymous SNV R3039Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 281283 chr2 98275089 98275089 G A rs201371421 ACTR1B Nonsynonymous SNV T153M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 32 281284 chr6 10961765 10961765 A G rs141069659 SYCP2L Synonymous SNV Q796Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.799 281285 chr6 16328032 16328032 C G rs766808797 ATXN1 Nonsynonymous SNV Q170H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 281286 chr6 13365584 13365584 G A rs118178478 GFOD1 Synonymous SNV T85T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 281287 chr6 15452369 15452369 T C JARID2 Synonymous SNV P152P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.675 281288 chr6 15533469 15533469 G A rs61739410 DTNBP1 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.87 281289 chr2 103090296 103090296 A G rs140006023 SLC9A4 Synonymous SNV A26A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.834 281290 chr11 824434 824434 C T PNPLA2 Synonymous SNV S391S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.197 281291 chr5 79733344 79733344 G T ZFYVE16 Nonsynonymous SNV E280D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 281292 chr6 24869329 24869329 A G rs778910745 RIPOR2 Nonsynonymous SNV I165T 0 0.005 0 0 0 2 0 0 0 0 0 0 24.9 281293 chr15 65489712 65489712 C T rs765770685 CILP Nonsynonymous SNV R971H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 281294 chr11 85375780 85375780 G A rs778470674 CREBZF Nonsynonymous SNV A47V 0 0 0.007 0 0 0 0 2 0 0 0 0 11.56 281295 chr6 26056510 26056510 G C rs746584114 H1-2 Synonymous SNV A49A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 281296 chr15 42442860 42442860 T C rs149766220 PLA2G4F Synonymous SNV P239P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 281297 chr6 26184291 26184291 A G rs149352594 H2BC6 Nonsynonymous SNV I90V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 281298 chr6 26370616 26370616 G A rs9379861 BTN3A2 Nonsynonymous SNV R167K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 281299 chr11 9096043 9096043 T G rs929357988 SCUBE2 Nonsynonymous SNV I168L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 26.2 281300 chr15 73590735 73590735 G A rs368621140 NEO1 Synonymous SNV S1263S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 281301 chr11 93465536 93465536 A C rs768740162 SNORA8 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 281302 chr11 94861892 94861892 T G rs748042423 ENDOD1 Nonsynonymous SNV F218V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 281303 chr22 36537585 36537585 A G rs201658679 APOL3 Nonsynonymous SNV I291T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 281304 chr6 42985302 42985302 G T KLHDC3 Nonsynonymous SNV R67L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.42 281305 chr12 109095053 109095053 A G rs149698104 CORO1C Synonymous SNV F67F 0 0 0.007 0 0 0 0 2 0 0 0 0 7.071 281306 chr5 131080340 131080340 C T rs368291968 FNIP1 Nonsynonymous SNV V46I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.5 281307 chr6 41001767 41001767 G A rs774664002 UNC5CL Nonsynonymous SNV T180M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 281308 chr12 11150171 11150171 G A rs778785045 TAS2R20 Nonsynonymous SNV L102F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 281309 chr5 134033639 134033639 C T rs543304146 SEC24A Nonsynonymous SNV H720Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.2 281310 chr6 42025190 42025190 C T rs373004161 TAF8 Nonsynonymous SNV P143L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281311 chr6 46678391 46678391 C T rs140695465 PLA2G7 Nonsynonymous SNV R223Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.677 281312 chr12 116445243 116445243 C T rs747879843 MED13L Synonymous SNV T737T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 281313 chr6 43006696 43006696 A G rs1045968227 CUL7 Nonsynonymous SNV S1526P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.589 281314 chr12 118460143 118460143 G A rs749146675 RFC5 Nonsynonymous SNV A134T 0 0 0.007 0 0 0 0 2 0 0 0 0 34 281315 chr6 43305046 43305046 G T rs779185461 ZNF318 Synonymous SNV G2230G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 281316 chr12 120652913 120652913 G A rs759509910 PXN Nonsynonymous SNV A380V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.87 281317 chr12 120884344 120884344 A G rs756353947 GATC Nonsynonymous SNV T21A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.006 281318 chr6 55739443 55739443 G A rs141502765 BMP5 Nonsynonymous SNV A74V 0 0.003 0 0 0 1 0 0 0 0 0 0 16 281319 chr6 65767506 65767506 C T rs199740930 EYS 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 281320 chr22 50355347 50355347 C T rs573656711 PIM3 Synonymous SNV H168H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.953 281321 chr6 52897418 52897418 T C CILK1 Nonsynonymous SNV K64R 0.001 0 0 0 1 0 0 0 0 0 0 0 27 281322 chr6 53764630 53764630 C T LRRC1 Nonsynonymous SNV T243I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 281323 chr6 54805116 54805116 G A rs141100648 FAM83B Synonymous SNV A449A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.996 281324 chr22 50944789 50944789 G A LMF2 Synonymous SNV L149L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 281325 chr12 133233762 133233768 TTCTGCT - POLE K1179Rfs*38 0 0 0.007 0 0 0 0 2 0 0 0 0 281326 chr12 133697642 133697642 T C rs61739974 ZNF891 Nonsynonymous SNV H288R 0 0 0.007 0 0 0 0 2 0 0 0 0 1.219 281327 chr6 96651315 96651315 C T rs144101900 FUT9 Nonsynonymous SNV T95M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 281328 chr6 97051570 97051570 A G rs748092303 FHL5 Synonymous SNV P27P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.193 281329 chr6 76022811 76022811 G A rs780306921 FILIP1 Stop gain R913X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 281330 chr12 1599395 1599395 G C ERC1 X1089S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.01 281331 chr2 190620210 190620210 A G rs536822486 OSGEPL1 Nonsynonymous SNV S111P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.04 281332 chrX 36246786 36246786 C T CFAP47 Nonsynonymous SNV L2287F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.798 281333 chr2 191362199 191362199 C T rs190574693 MFSD6 Synonymous SNV P642P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.05 281334 chr6 91257849 91257849 T A rs374740115 MAP3K7 Nonsynonymous SNV T333S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 281335 chr2 197654700 197654700 C T rs557820148 GTF3C3 Synonymous SNV A210A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.45 281336 chrX 48762625 48762625 G A rs370394797 SLC35A2 Synonymous SNV A126A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.58 281337 chr2 200789881 200789881 A T rs186306624 C2orf69 Nonsynonymous SNV N144Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 281338 chr2 201434523 201434523 C T rs201953512 SGO2 Nonsynonymous SNV S204L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.187 281339 chr2 201677150 201677150 C T rs558496103 BZW1 Nonsynonymous SNV A7V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 281340 chr2 201785786 201785786 G T ORC2 Synonymous SNV I408I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 281341 chr2 202025498 202025498 G C rs369277646 CFLAR Synonymous SNV A134A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.674 281342 chr12 300248 300248 C G rs147574089 SLC6A12 Nonsynonymous SNV E611Q 0 0 0.007 0 0 0 0 2 0 0 0 0 28.7 281343 chr16 24834847 24834847 C A TNRC6A Nonsynonymous SNV P1821T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 281344 chr2 206614449 206614449 A T rs369787845 NRP2 Nonsynonymous SNV D596V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 281345 chrX 100881091 100881091 C T ARMCX3 Synonymous SNV F374F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.95 281346 chr6 138644883 138644883 G A rs61748670 ARFGEF3 Synonymous SNV A1614A 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 15.57 281347 chrX 109696832 109696832 C T rs149669062 RTL9 Nonsynonymous SNV A996V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.391 281348 chr6 147006955 147006955 A G ADGB Synonymous SNV L434L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.33 281349 chr16 1537775 1537775 C T rs745553297 PTX4 Nonsynonymous SNV R108H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 281350 chr12 49397701 49397701 G A PRKAG1 Nonsynonymous SNV T190I 0 0 0.007 0 0 0 0 2 0 0 0 0 17.42 281351 chr6 148865038 148865038 G A rs748448028 SASH1 Nonsynonymous SNV R572Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 281352 chrX 124455229 124455229 A C rs751619238 TEX13C Nonsynonymous SNV M421L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.107 281353 chrX 124455314 124455314 - CCAGGAGATGGTCCCCCTGGGGGACAGCAACAGCCACAGTCTGAAGAAAGATCCAATGATGCA TEX13C P467_V468insMMHQEMVPLGDSNSHSLKKDP 0.001 0 0.007 0 1 0 0 2 0 0 0 0 281354 chrX 124455494 124455494 T C rs779113406 TEX13C Nonsynonymous SNV L509P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.56 281355 chrX 124455511 124455511 C A TEX13C Nonsynonymous SNV L515M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 2.81 281356 chrX 124455513 124455513 G T rs780712762 TEX13C Synonymous SNV L515L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.006 281357 chrX 124455520 124455520 C A rs745325210 TEX13C Nonsynonymous SNV L518M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.871 281358 chrX 124455522 124455522 G A rs769209552 TEX13C Synonymous SNV L518L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 1.506 281359 chrX 124455534 124455534 G C TEX13C Nonsynonymous SNV K522N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.05 281360 chr6 132643899 132643899 C T MOXD1 Nonsynonymous SNV M408I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 281361 chr12 51442866 51442866 T G rs770036727 LETMD1 Nonsynonymous SNV S2A 0 0 0.007 0 0 0 0 2 0 0 0 0 12.41 281362 chr12 51693415 51693415 C T rs150740618 BIN2 Synonymous SNV K132K 0 0 0.007 0 0 0 0 2 0 0 0 0 15.38 281363 chr2 219920356 219920356 G A rs749777278 IHH Nonsynonymous SNV A270V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.51 281364 chr6 152720912 152720912 G T rs142747430 SYNE1 Nonsynonymous SNV T2366N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.24 281365 chr2 220104925 220104925 G A rs745346273 GLB1L Synonymous SNV I178I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 281366 chr6 158532517 158532517 G T rs780572089 SERAC1 Nonsynonymous SNV L616I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 281367 chr6 159653435 159653435 C T rs768707956 FNDC1 Nonsynonymous SNV H631Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.81 281368 chr16 47409808 47409808 C T rs139573652 ITFG1 Synonymous SNV Q120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 281369 chr6 151687807 151687807 A G ZBTB2 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.191 281370 chr6 167738701 167738701 G C rs748372429 TTLL2 Nonsynonymous SNV A14P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 281371 chr2 227946850 227946850 C T COL4A4 Nonsynonymous SNV M559I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.646 281372 chr6 168711071 168711071 G A rs745447643 DACT2 Synonymous SNV S145S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.75 281373 chr6 166912077 166912077 C T rs111715918 RPS6KA2 Synonymous SNV T124T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 281374 chr7 6196592 6196592 G A rs183717405 USP42 Synonymous SNV P1283P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.43 281375 chr7 959623 959623 G C rs147172089 ADAP1 Nonsynonymous SNV Q29E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 281376 chr7 4900358 4900358 G A PAPOLB Nonsynonymous SNV L362F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 281377 chr7 5385230 5385230 C G rs540083693 TNRC18 Nonsynonymous SNV Q1894H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 281378 chr10 125651109 125651109 C G rs112646528 CPXM2 Nonsynonymous SNV V23L 0 0.003 0 0 0 1 0 0 0 0 0 0 15 281379 chr12 9086945 9086945 G A rs375728177 PHC1 Synonymous SNV P708P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.612 281380 chr12 95604958 95604958 G A rs749323061 FGD6 Synonymous SNV P34P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 281381 chr16 86601773 86601773 C G FOXC2 Nonsynonymous SNV L278V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 281382 chr7 30490892 30490894 TTG - rs769545306 NOD1 N714del 0.001 0 0 0 1 0 0 0 0 0 0 0 281383 chr13 19748279 19748279 G A rs771643542 TUBA3C Synonymous SNV P359P 0 0 0.007 0 0 0 0 2 0 0 0 0 2.181 281384 chr13 25363902 25363902 C T rs201724014 RNF17 Synonymous SNV D309D 0 0 0.007 0 0 0 0 2 0 0 0 0 4.492 281385 chr10 26830528 26830528 G C rs112949623 APBB1IP Synonymous SNV A354A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.785 281386 chr7 73934022 73934022 G A rs782267935 GTF2IRD1 Nonsynonymous SNV G329S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.18 281387 chr13 32929344 32929344 A G rs398122580 BRCA2 Nonsynonymous SNV N2452D 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.334 281388 chr13 33017157 33017157 C T rs577599324 N4BP2L2 Nonsynonymous SNV R491H 0 0 0.007 0 0 0 0 2 0 0 0 0 5.456 281389 chr7 86568215 86568215 A C rs749567995 KIAA1324L Synonymous SNV G63G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.541 281390 chr6 109764280 109764280 A T rs151113109 SMPD2 Nonsynonymous SNV Y242F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.273 281391 chr16 84270963 84270963 C G rs765624408 KCNG4 Nonsynonymous SNV R43S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 281392 chr13 48575384 48575384 C T rs759605518 SUCLA2 Nonsynonymous SNV G8S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.333 281393 chr7 94041937 94041937 A T rs412777 COL1A2 Synonymous SNV P482P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.226 281394 chr3 44903420 44903420 G A rs777018297 TMEM42 Nonsynonymous SNV A2T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 281395 chr10 50315784 50315784 C T rs141990292 VSTM4 Synonymous SNV E104E 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 4.65 281396 chr7 82581658 82581658 G T rs77584550 PCLO Nonsynonymous SNV P2871T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 281397 chr3 48309792 48309792 C G ZNF589 Nonsynonymous SNV S204C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.64 281398 chr7 87445557 87445557 C T rs771119396 RUNDC3B Nonsynonymous SNV T353I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 281399 chr14 102023760 102023760 G A rs552019353 DIO3OS 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 281400 chr7 88963910 88963910 G A rs148827448 ZNF804B Synonymous SNV T538T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 4.814 281401 chr7 89793845 89793845 G T STEAP1 Nonsynonymous SNV A273S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 281402 chr14 102815039 102815039 G A rs140733558 CINP Nonsynonymous SNV T165M 0 0 0.007 0 0 0 0 2 0 0 0 0 14.35 281403 chr17 25630480 25630480 T G WSB1 Synonymous SNV P99P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.207 281404 chr3 50311438 50311438 C A rs782238556 SEMA3B Nonsynonymous SNV H20N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 281405 chr7 91755655 91755655 T G rs142437178 CYP51A1 Nonsynonymous SNV K228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 281406 chr17 26851894 26851894 C T rs367793349 FOXN1 Nonsynonymous SNV A166V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 281407 chr14 105752655 105752655 C G rs138084196 BRF1 Synonymous SNV S81S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.33 281408 chr3 53891711 53891711 G A rs759500956 IL17RB Synonymous SNV T247T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.92 281409 chr14 21058880 21058880 C A rs151178006 RNASE12 Star tloss M1? 0 0.003 0.014 0 0 1 0 4 0 0 0 0 12.26 281410 chr3 64644177 64644177 C G ADAMTS9 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 281411 chr7 100731949 100731949 C G rs61730717 TRIM56 Nonsynonymous SNV H452Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 281412 chr6 168376929 168376929 A - rs752540334 HGC6.3 F135Sfs*55 0.002 0 0 0 2 0 0 0 0 0 0 0 281413 chr14 25288317 25288317 G A rs780359378 STXBP6 Stop gain R179X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 281414 chr14 31371818 31371818 T A STRN3 Synonymous SNV V603V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 281415 chr7 123254628 123254628 C A rs754478085 ASB15 Synonymous SNV S24S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 281416 chr17 38976535 38976535 A G rs576538778 KRT10 Synonymous SNV A336A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.409 281417 chr7 1024168 1024168 C T rs760828905 CYP2W1 Nonsynonymous SNV R99W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 281418 chr7 100732831 100732831 C T TRIM56 Synonymous SNV H746H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.488 281419 chr7 105221826 105221826 C T EFCAB10 Nonsynonymous SNV A29T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.699 281420 chr7 117180263 117180263 C T CFTR Synonymous SNV L327L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 281421 chr14 53150521 53150521 G A rs139258722 ERO1A Synonymous SNV Y73Y 0 0 0.007 0 0 0 0 2 0 0 0 0 8.021 281422 chr7 122839969 122839969 C T rs143242073 SLC13A1 Nonsynonymous SNV R11H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 281423 chr7 128450342 128450342 A G rs200162055 CCDC136 Synonymous SNV K650K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.259 281424 chr7 128454863 128454863 C T rs201403112 CCDC136 Nonsynonymous SNV R979W 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 281425 chr7 128454955 128454955 C T rs184775299 CCDC136 Synonymous SNV S1009S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.46 281426 chr3 123348500 123348500 G A rs375904060 MYLK-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.428 281427 chr17 41907455 41907455 G A rs371050657 MPP3 Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 281428 chr17 42992766 42992766 C T rs373688797 GFAP Nonsynonymous SNV R30H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 281429 chr3 128755946 128755946 A T EFCC1 Nonsynonymous SNV R526W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 281430 chr3 129120577 129120577 G A EFCAB12 Synonymous SNV S526S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.734 281431 chr14 74083701 74083701 G C rs893042104 ACOT6 Synonymous SNV G155G 0 0 0.007 0 0 0 0 2 0 0 0 0 2.445 281432 chr14 74969470 74969470 C T rs139734678 LTBP2 Nonsynonymous SNV V1686I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.057 281433 chr17 45897622 45897622 G A rs377181361 OSBPL7 Nonsynonymous SNV P8L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 281434 chr7 142962203 142962203 G A rs201961320 GSTK1 Stop gain W134X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281435 chr17 8390816 8390816 C T rs77768450 MYH10 Nonsynonymous SNV E1630K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 281436 chr7 151884832 151884832 A C rs200669651 KMT2C Synonymous SNV S1587S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 2.699 281437 chr14 81609422 81609422 G C rs767151716 TSHR Nonsynonymous SNV K340N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.347 281438 chr7 157985044 157985044 G A rs143506590 PTPRN2 Nonsynonymous SNV T137M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 281439 chr8 1872034 1872034 G A rs764702039 ARHGEF10 Nonsynonymous SNV A790T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 281440 chr8 3076897 3076897 T C rs780097374 CSMD1 Nonsynonymous SNV I1518V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.518 281441 chr3 153972517 153972517 C G ARHGEF26 Nonsynonymous SNV Q793E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 281442 chr7 157333464 157333464 C T rs775292746 PTPRN2 Nonsynonymous SNV A960T 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281443 chr17 56598994 56598994 A G rs143983549 SEPTIN4 Nonsynonymous SNV I211T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 281444 chr17 57046980 57046980 C G rs142776229 PPM1E Synonymous SNV L288L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 281445 chr7 158716321 158716321 C T rs368500706 WDR60 Synonymous SNV H527H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.374 281446 chr11 118881490 118881490 G C CCDC84 Nonsynonymous SNV V134L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.15 281447 chr15 101094084 101094084 C - PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 281448 chr15 101094086 101094090 CACAC - PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 281449 chr8 10467572 10467572 C A RP1L1 Stop gain G1346X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 281450 chr17 59946709 59946709 G A rs573904210 INTS2 Synonymous SNV V1021V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 281451 chr8 6783437 6783437 G A rs146649678 DEFA6 Stop gain Q41X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 281452 chr17 63223474 63223474 G A rs757041644 RGS9 Synonymous SNV S655S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.361 281453 chr15 25434597 25434597 A T rs756743295 SNORD115-11, SNORD115-29, SNORD115-36, SNORD115-43 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 281454 chr15 25477606 25477606 G A SNORD115-21, SNORD115-34 0 0 0.007 0 0 0 0 2 0 0 0 0 14.88 281455 chr8 13948092 13948092 A G rs144979012 SGCZ Nonsynonymous SNV S233P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.585 281456 chr3 183882904 183882904 C T rs377620819 DVL3 Synonymous SNV F201F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.55 281457 chr3 184910625 184910625 C T EHHADH Nonsynonymous SNV V425M 0 0 0 1 0 0 0.003 0 0 0 0 0 4.55 281458 chr3 185191446 185191446 C T rs756793616 MAP3K13 Nonsynonymous SNV T569M 0 0 0 1 0 0 0.003 0 0 0 0 0 1.361 281459 chr8 19816891 19816891 T C rs758966315 LPL Nonsynonymous SNV L380P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 281460 chr8 21978332 21978332 C T rs201739936 HR Nonsynonymous SNV R836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.52 281461 chr15 43527923 43527923 C T rs767557684 TGM5 Synonymous SNV L404L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.664 281462 chr8 28575403 28575403 G T rs891358223 EXTL3 Synonymous SNV G609G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 281463 chr15 45443370 45443370 G A DUOX1 Nonsynonymous SNV E980K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.254 281464 chr15 45555367 45555367 A C rs1044541580 SLC28A2 Nonsynonymous SNV K124T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.771 281465 chr15 45695312 45695312 C T SPATA5L1 Synonymous SNV L229L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.383 281466 chr11 1481898 1481898 C A rs556602754 BRSK2 Nonsynonymous SNV T719K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.5 281467 chr8 39871156 39871156 C T rs371655582 IDO2 Synonymous SNV S277S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.712 281468 chr8 26627882 26627882 A T rs61760514 ADRA1A Stop gain C395X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 281469 chr15 53994475 53994475 C T rs771064286 WDR72 Synonymous SNV S475S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 281470 chr8 59490628 59490628 G C SDCBP Nonsynonymous SNV A88P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 281471 chr7 100550443 100550443 A G rs775866198 MUC3A Nonsynonymous SNV S342G 0.003 0 0 0 3 0 0 0 0 0 0 0 4.439 281472 chr7 100550462 100550462 C T rs372836845 MUC3A Nonsynonymous SNV T348I 0.002 0 0 0 2 0 0 0 0 0 0 0 5.669 281473 chr17 74740478 74740478 C T rs763350082 MFSD11 Nonsynonymous SNV R139W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281474 chr8 39103652 39103652 A T ADAM32 Synonymous SNV A524A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 281475 chr4 2065521 2065521 C T rs150241702 NAT8L Synonymous SNV N192N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 281476 chr17 75494716 75494716 G A SEPTIN9 Synonymous SNV K467K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 281477 chr8 53084644 53084644 C T rs765013460 ST18 Synonymous SNV P259P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 281478 chr8 56717452 56717452 A G rs762984884 TGS1 Nonsynonymous SNV E574G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 281479 chr4 3319558 3319558 A G rs149229205 RGS12 Nonsynonymous SNV Q554R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 281480 chr8 72123416 72123416 A G rs376013085 EYA1 Nonsynonymous SNV V558A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 281481 chr8 94821336 94821336 A C TMEM67 Nonsynonymous SNV S870R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 281482 chr8 95884147 95884147 C T rs760577357 INTS8 Nonsynonymous SNV T817I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 281483 chr8 80677802 80677802 G T HEY1 Nonsynonymous SNV P89H 0.001 0 0 0 1 0 0 0 0 0 0 0 21 281484 chr4 6718272 6718272 C A rs746865812 BLOC1S4 Nonsynonymous SNV H112Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.238 281485 chr8 90801695 90801695 A G rs200397135 RIPK2 Nonsynonymous SNV T424A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 281486 chr7 107605097 107605097 G A LAMB1 Nonsynonymous SNV P533L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 281487 chr17 72848578 72848578 A G rs62084950 GRIN2C Nonsynonymous SNV V191A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.9 281488 chr8 110534557 110534557 G A rs200799806 PKHD1L1 Synonymous SNV G4058G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.378 281489 chr7 120590958 120590959 AC - ING3 Y3Sfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 281490 chr7 120590962 120590962 - TCTG ING3 Frameshift insertion E5Sfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 281491 chr7 120590965 120590965 - AAGT ING3 Stop gain D6Kfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 281492 chr11 403742 403742 C T rs150915681 PKP3 Nonsynonymous SNV S683F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 281493 chr8 120759065 120759065 A G TAF2 Synonymous SNV L996L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.84 281494 chr17 73234995 73234995 C T GGA3 Synonymous SNV K528K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 281495 chr17 80684736 80684736 C G rs773076464 FN3KRP Nonsynonymous SNV L207V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.451 281496 chr19 1555993 1555993 C T rs540664676 MEX3D Nonsynonymous SNV G509R 0.003 0 0 0 3 0 0 0 1 0 0 0 23.1 281497 chr8 125575039 125575039 G T rs760286259 MTSS1 Nonsynonymous SNV P340Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 281498 chr7 128587985 128587985 G A rs371741360 IRF5 Synonymous SNV T228T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 281499 chr4 42403040 42403040 G A rs764628014 SHISA3 Nonsynonymous SNV V97I 0 0 0 1 0 0 0.003 0 0 0 0 0 25 281500 chr8 133984063 133984063 C T rs773948714 TG Synonymous SNV C2000C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 281501 chr8 134147014 134147014 A G rs752916519 TG Synonymous SNV P2761P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.742 281502 chr8 134147032 134147032 C T TG Synonymous SNV S2767S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 281503 chr4 52740445 52740445 C T rs770330193 DCUN1D4 Nonsynonymous SNV R49W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 281504 chr7 138591672 138591672 G A rs61744112 KIAA1549 Synonymous SNV I1151I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.891 281505 chr8 143746554 143746554 G A rs183058213 JRK Synonymous SNV A308A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.305 281506 chr8 144358652 144358652 G A rs200522297 GLI4 Nonsynonymous SNV G270D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 281507 chr15 91509696 91509696 G A rs768415520 PRC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.656 281508 chr4 69342110 69342113 TTAA - rs768475173 TMPRSS11E I222Mfs*6 0 0.003 0 2 0 1 0.005 0 0 0 0 1 281509 chr7 141721424 141721424 C T rs372849283 MGAM Synonymous SNV H199H 0.002 0 0 0 2 0 0 0 0 0 0 0 10.83 281510 chr4 71063697 71063697 G A rs201051562 ODAM Synonymous SNV Q66Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.909 281511 chr15 93588563 93588563 G A rs200903969 RGMA Nonsynonymous SNV R324C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 281512 chr7 142881269 142881269 G A rs184819681 TAS2R39 Nonsynonymous SNV S253N 0.002 0 0 0 2 0 0 0 0 0 0 0 25 281513 chr8 144776367 144776367 G A rs372770709 ZNF707 Synonymous SNV S225S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 281514 chr7 143016929 143016929 G A rs147581794 CLCN1 Nonsynonymous SNV V88M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.002 281515 chr16 112538 112538 - TT RHBDF1 Frameshift insertion M317Ifs*30 0 0 0.003 0 0 0 0 1 0 0 0 0 281516 chr18 3742357 3742357 C T DLGAP1 Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 281517 chr4 78081991 78081991 A G CCNG2 Nonsynonymous SNV K132E 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 281518 chr18 43418717 43418717 C A SIGLEC15 Synonymous SNV P177P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 281519 chr8 145739579 145739579 G A rs201815449 RECQL4 Synonymous SNV V624V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.599 281520 chr7 150884745 150884745 G A rs576880178 ASB10 Nonsynonymous SNV P22L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.449 281521 chr18 56202463 56202463 G A rs762589293 ALPK2 Synonymous SNV T1652T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.003 281522 chr9 990913 990913 C T DMRT3 Nonsynonymous SNV P443S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 281523 chr16 17228439 17228439 C T rs146288199 XYLT1 Nonsynonymous SNV G640S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 25.4 281524 chr4 100126221 100126221 C G ADH6 0 0 0 1 0 0 0.003 0 0 0 0 0 15.66 281525 chr16 19556183 19556183 C T rs147470192 CCP110 Nonsynonymous SNV A850V 0.001 0 0.01 0 1 0 0 3 0 0 0 0 32 281526 chr9 14720247 14720247 G A rs146765149 CER1 Synonymous SNV T215T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.604 281527 chr9 14746950 14746950 C T rs201502030 FREM1 Nonsynonymous SNV A523T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.36 281528 chr9 20986440 20986440 C G rs189041170 FOCAD Nonsynonymous SNV R1628G 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281529 chr9 21007069 21007069 G A rs767336735 HACD4 Synonymous SNV L222L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.384 281530 chr8 8560512 8560512 C T CLDN23 Nonsynonymous SNV R202C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 281531 chr9 19316630 19316630 A G DENND4C Nonsynonymous SNV T534A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.84 281532 chr18 6171827 6171827 G A rs369778937 L3MBTL4 Stop gain R366X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281533 chr16 22108235 22108235 G A VWA3A Nonsynonymous SNV G24S 0 0 0.007 0 0 0 0 2 0 0 0 0 3.425 281534 chr9 33469101 33469101 G A NOL6 Nonsynonymous SNV T294I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 281535 chr9 35906595 35906595 - CCACCCCCACCG HRCT1 H109_H110insPHRH 0 0.003 0 0 0 1 0 0 0 0 0 0 281536 chr18 77170558 77170558 G T NFATC1 Nonsynonymous SNV G95C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 281537 chr9 77683992 77683992 G A rs137952847 NMRK1 Nonsynonymous SNV S115F 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 281538 chr18 47801393 47801393 G A rs752431743 MBD1 Nonsynonymous SNV S262L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 281539 chr9 93983106 93983106 G A rs748318386 AUH Nonsynonymous SNV A246V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 27.4 281540 chr16 4431729 4431729 C T rs373081245 VASN Nonsynonymous SNV S284L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.666 281541 chr18 56057964 56057964 C T rs747422859 NEDD4L Synonymous SNV A773A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 281542 chr19 1081888 1081888 C T rs199947251 ARHGAP45 Synonymous SNV G450G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 281543 chr9 101894904 101894904 G A rs56014374 TGFBR1 Nonsynonymous SNV V157I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 17.74 281544 chr16 53907767 53907767 G A rs745616565 FTO Nonsynonymous SNV R296Q 0 0 0.007 0 0 0 0 2 0 0 0 0 35 281545 chr9 101980763 101980763 T C ALG2 Nonsynonymous SNV E235G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 281546 chr9 107513413 107513423 CAGAATGAATA - rs749672756 NIPSNAP3A R80Sfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 281547 chr4 183814185 183814185 G A rs766885547 DCTD Nonsynonymous SNV R164W 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 281548 chr18 6971911 6971911 T C rs201633658 LAMA1 Nonsynonymous SNV I2282V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.593 281549 chr4 185941613 185941613 C T HELT Nonsynonymous SNV S139L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.98 281550 chr16 57832078 57832078 C T KIFC3 Synonymous SNV P26P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 281551 chr18 8784511 8784511 G A rs369116879 MTCL1 Synonymous SNV T467T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.183 281552 chr9 116931490 116931490 G A rs148833602 COL27A1 Nonsynonymous SNV R552Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.49 281553 chr11 61110909 61110909 G A rs146663960 TKFC Nonsynonymous SNV E321K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 281554 chr11 612605 612650 GGGCTGCTCCAGCTTTCTGGAGTTCTCATTAGACTGGGTTCTAGGC - rs772699762 IRF7 A474Tfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 281555 chr16 72833957 72833957 A G rs761594861 ZFHX3 Synonymous SNV N398N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.47 281556 chr9 119130026 119130026 G A rs373533438 PAPPA Nonsynonymous SNV R1533Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 281557 chr16 78064580 78064580 G A rs767933463 CLEC3A Nonsynonymous SNV G146R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 281558 chr19 4511893 4511893 C T PLIN4 Synonymous SNV L693L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.532 281559 chr16 81962195 81962195 C T PLCG2 Synonymous SNV C849C 0 0 0.007 0 0 0 0 2 0 0 0 0 13.14 281560 chr9 125681862 125681862 G A rs559840108 ZBTB26 Nonsynonymous SNV R118W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 281561 chr9 131246994 131246994 C A rs148664412 ODF2 Nonsynonymous SNV S292R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 281562 chr9 132597030 132597030 C G rs751052761 C9orf78 Nonsynonymous SNV E33D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 281563 chr16 88788132 88788132 G A rs778603613 PIEZO1 Synonymous SNV I1739I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.064 281564 chr9 133333961 133333961 C T rs770688393 ASS1 Synonymous SNV H116H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.39 281565 chr16 89784066 89784066 C T VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.91 281566 chr9 137623470 137623470 G T rs373460629 COL5A1 Synonymous SNV G431G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.49 281567 chr9 138236045 138236045 G A rs551467610 C9orf62 Nonsynonymous SNV R84Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.716 281568 chr19 16908639 16908639 C T rs73008597 NWD1 Nonsynonymous SNV A928V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 281569 chr9 138590202 138590202 G A SOHLH1 Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.036 281570 chr19 50385642 50385642 C T rs202198320 TBC1D17 Synonymous SNV F228F 0.003 0 0 0 3 0 0 0 0 0 0 0 15.68 281571 chr9 138714415 138714415 C T rs762442501 CAMSAP1 Nonsynonymous SNV D698N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.755 281572 chr19 51022247 51022247 C T rs767869581 LRRC4B Synonymous SNV L241L 0.003 0 0 0 3 0 0 0 0 0 0 0 8.732 281573 chr9 139848676 139848676 G A rs138414101 LCN12 Synonymous SNV S173S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 281574 chr17 17069852 17069852 C T rs531443181 MPRIP Synonymous SNV D1681D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.869 281575 chr17 17698049 17698049 G A rs200001615 RAI1 Nonsynonymous SNV R596Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 25.2 281576 chr19 51771833 51771833 A G SIGLECL1 Synonymous SNV Q98Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.042 281577 chr17 18024142 18024142 C A rs577023485 MYO15A Synonymous SNV P676P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 10.03 281578 chr17 19290088 19290088 C T rs368593393 MFAP4 Nonsynonymous SNV G48R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 281579 chr9 140611215 140611215 G C rs777679735 EHMT1 Nonsynonymous SNV D44H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 281580 chr9 140329671 140329671 G A rs144921257 ENTPD8 Synonymous SNV L390L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.699 281581 chr11 76890889 76890889 G A rs368341987 MYO7A Nonsynonymous SNV A826T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.2 281582 chr10 293384 293384 A G ZMYND11 Nonsynonymous SNV Q300R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 281583 chr10 5494843 5494843 G T NET1 Nonsynonymous SNV G131V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 281584 chr10 5496400 5496400 G A NET1 Nonsynonymous SNV R260H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 281585 chr17 2234249 2234263 CTTCAACCTCTTTTT - rs759896693 TSR1 E546_E550del 0 0 0.007 0 0 0 0 2 0 0 0 0 281586 chr19 40903577 40903577 G A rs751238438 PRX Nonsynonymous SNV R228C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 281587 chr10 12131114 12131114 A G rs145337285 DHTKD1 Nonsynonymous SNV M283V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.634 281588 chr19 53885160 53885160 A T ZNF525 Nonsynonymous SNV E443V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.166 281589 chr10 17024509 17024509 G A rs140970422 CUBN Nonsynonymous SNV L1557F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 281590 chr10 17088067 17088067 A G rs141164907 CUBN Nonsynonymous SNV L1119S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.429 281591 chr10 21962283 21962283 T A rs369159177 MLLT10 Nonsynonymous SNV S352R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 281592 chr11 93800681 93800681 C T rs547611091 HEPHL1 Synonymous SNV F276F 0 0.005 0 0 0 2 0 0 0 0 0 0 16.66 281593 chr17 35413915 35413915 G A rs374540075 AATF Nonsynonymous SNV R545H 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 281594 chr17 35444352 35444352 C T ACACA Nonsynonymous SNV V2256I 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 281595 chr19 44117864 44117864 A T rs184622544 SRRM5 Stop gain R531X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 281596 chr17 36486402 36486402 C T rs756820312 GPR179 Nonsynonymous SNV R1017Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.39 281597 chr6 110567227 110567227 A G METTL24 Synonymous SNV P144P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.985 281598 chr10 31134286 31134286 A G rs143808981 ZNF438 Synonymous SNV A697A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.3 281599 chr10 29812942 29812942 C T rs143086015 SVIL Synonymous SNV K441K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 281600 chr17 38100812 38100812 G A rs776989449 LRRC3C Nonsynonymous SNV R218Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.329 281601 chr19 44612236 44612236 G C rs116526766 ZNF224 Synonymous SNV V641V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.657 281602 chr19 44661156 44661156 A G rs61730386 ZNF234 Synonymous SNV S329S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.016 281603 chr19 44739328 44739328 C T rs79006902 ZNF227 Nonsynonymous SNV P170S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.44 281604 chr19 44778149 44778232 CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC - ZNF233 E455_C482del 0.002 0 0 0 2 0 0 0 0 0 0 0 281605 chr19 37311001 37311001 C T rs201511328 ZNF790 Nonsynonymous SNV C82Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 281606 chr10 49951132 49951132 G A WDFY4 Synonymous SNV L666L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.622 281607 chr10 50340310 50340310 C T rs202158309 FAM170B Nonsynonymous SNV G67E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.58 281608 chr12 11149896 11149896 T C rs200683873 TAS2R20 Nonsynonymous SNV I193M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.22 281609 chr10 71175836 71175836 T C rs201715417 TACR2 Nonsynonymous SNV M82V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 281610 chr17 41907111 41907111 C A rs374297619 MPP3 Nonsynonymous SNV V143F 0 0 0.007 0 0 0 0 2 0 0 0 0 24.4 281611 chr10 70182463 70182463 C T rs529850423 DNA2 Nonsynonymous SNV R798H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.81 281612 chr17 42990750 42990750 C G rs56679084 GFAP Nonsynonymous SNV E223Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Uncertain significance 23.4 281613 chr5 150932771 150932771 C T FAT2 Nonsynonymous SNV G1375S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.15 281614 chr19 42797236 42797236 C A CIC Nonsynonymous SNV P1200T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 281615 chr10 74937635 74937635 A C FAM149B1 Nonsynonymous SNV T62P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 281616 chr19 43093010 43093010 - CG CEACAM8 Frameshift insertion G295Afs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 281617 chr10 75567812 75567812 C T rs200490330 NDST2 Nonsynonymous SNV R112H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 281618 chr17 46629826 46629826 G A rs1032105862 HOXB3 Nonsynonymous SNV A4V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.8 281619 chr19 50656973 50656973 C T rs186455488 IZUMO2 Synonymous SNV A238A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.231 281620 chr17 46847336 46847336 C T rs1022851708 TTLL6 Nonsynonymous SNV V415I 0 0 0.007 0 0 0 0 2 0 0 0 0 4.199 281621 chr10 82298181 82298181 C T rs532946393 SH2D4B Nonsynonymous SNV R32W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281622 chr10 74914166 74914166 A G rs776848178 ECD Nonsynonymous SNV C211R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 281623 chr19 50971012 50971012 G C FAM71E1 Nonsynonymous SNV T205S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 281624 chr19 50979809 50979809 C T EMC10 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 281625 chr17 4717994 4717994 C T rs147073290 PLD2 Synonymous SNV L387L 0 0 0.007 0 0 0 0 2 0 0 0 0 13.17 281626 chr10 86131045 86131045 C T rs371777256 CCSER2 Synonymous SNV V79V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.204 281627 chr9 138660737 138660737 C T rs375585422 KCNT1 Synonymous SNV Y443Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.93 281628 chr10 86018266 86018266 G A rs957318154 RGR Synonymous SNV V211V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 281629 chr17 56060430 56060430 C T VEZF1 Nonsynonymous SNV A120T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 281630 chr10 97625940 97625940 G C rs145994698 ENTPD1 Nonsynonymous SNV G307R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 281631 chr10 98408584 98408584 C T rs765566851 PIK3AP1 Synonymous SNV L339L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 281632 chr10 100177366 100177366 C G rs780183454 HPS1 Nonsynonymous SNV Q566H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 281633 chr10 101148023 101148023 T C rs138832883 CNNM1 Nonsynonymous SNV L880P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.685 281634 chr19 47546102 47546102 T C NPAS1 Nonsynonymous SNV L226P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 281635 chr10 102056842 102056842 G A rs150913711 PKD2L1 Synonymous SNV C313C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.814 281636 chr10 104174967 104174967 C T rs144249036 PSD Synonymous SNV Q259Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.22 281637 chr6 15496649 15496649 A G rs764796093 JARID2 Nonsynonymous SNV K226R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.357 281638 chr6 17764452 17764452 G A rs767581931 KIF13A Synonymous SNV G1721G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 281639 chr6 18399889 18399889 A T rs149472984 RNF144B Nonsynonymous SNV M42L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.93 281640 chr19 55690342 55690342 C G rs763015808 SYT5 Nonsynonymous SNV A78P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.984 281641 chr6 20102622 20102622 G A MBOAT1 Synonymous SNV H461H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.661 281642 chr10 103607307 103607307 T C rs201207647 ARMH3 Nonsynonymous SNV K683R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 281643 chr7 6730487 6730487 G A rs202102544 ZNF12 Nonsynonymous SNV L696F 0 0 0 2 0 0 0.005 0 0 0 0 0 27 281644 chr19 50119297 50119297 C T rs201889627 PRR12 Nonsynonymous SNV T1773M 0.001 0 0.01 0 1 0 0 3 0 0 0 0 14.88 281645 chr10 105037650 105037650 C T INA Nonsynonymous SNV R228C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 281646 chr9 139101092 139101092 T G rs148837479 QSOX2 Nonsynonymous SNV K527Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 281647 chr9 139103220 139103220 C G rs145948763 QSOX2 Nonsynonymous SNV G480A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 281648 chr10 123846894 123846894 G A TACC2 Nonsynonymous SNV V1627M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.623 281649 chr19 57036178 57036178 C T rs759157669 ZNF471 Nonsynonymous SNV H174Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 281650 chr10 124895594 124895594 G T HMX3 Nonsynonymous SNV G10C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 281651 chr17 74921114 74921114 C T rs144560862 MGAT5B Synonymous SNV I375I 0 0 0.007 0 0 0 0 2 0 0 0 0 18.4 281652 chr6 36891186 36891186 T C rs773803313 C6orf89 Nonsynonymous SNV I345T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 281653 chr12 49717939 49717939 C A rs371971154 TROAP Synonymous SNV V113V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.629 281654 chr6 41000638 41000638 T C rs147999225 UNC5CL Nonsynonymous SNV T312A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.812 281655 chr9 139925490 139925490 C T rs141846761 FUT7 Nonsynonymous SNV R234H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 281656 chr10 132915085 132915085 G A rs766742861 TCERG1L Stop gain R458X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 281657 chr9 140245562 140245562 C T rs370478324 EXD3 Synonymous SNV T474T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 281658 chr6 43109972 43109972 G A rs759280363 PTK7 Nonsynonymous SNV R531H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 281659 chr17 78184513 78184513 G A rs757039773 SGSH Nonsynonymous SNV T416I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.353 281660 chr10 129905811 129905811 G A rs776064157 MKI67 Synonymous SNV I1071I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.239 281661 chr19 746421 746421 G A PALM Synonymous SNV R213R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.995 281662 chr11 291098 291098 C T rs780718547 PGGHG Synonymous SNV H297H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 281663 chr12 53448166 53448166 C T rs373949417 TNS2 Nonsynonymous SNV R165W 0 0.005 0.007 0 0 2 0 2 0 0 0 0 34 281664 chr17 79660570 79660570 C T rs150616739 HGS Nonsynonymous SNV P234S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 281665 chr19 55401206 55401206 C T rs753943019 FCAR Stop gain R173X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281666 chr6 56917995 56917995 A G KIAA1586 Nonsynonymous SNV N206S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 281667 chr6 72011294 72011294 G A rs757418904 OGFRL1 Nonsynonymous SNV A301T 0 0 0 1 0 0 0.003 0 0 0 0 0 32 281668 chr11 557489 557489 T C rs763558598 LMNTD2 0 0.003 0 0 0 1 0 0 0 0 0 0 15.63 281669 chr19 56196875 56196875 C T rs75693236 EPN1 Synonymous SNV R114R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.62 281670 chr11 798054 798054 G A rs1019800109 PANO1 Synonymous SNV P143P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.934 281671 chr10 32873210 32873210 C G rs139762456 CCDC7 Stop gain Y593X 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 281672 chr18 29867478 29867478 C T GAREM1 Nonsynonymous SNV R361Q 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 281673 chr11 1471897 1471897 G A rs373710927 BRSK2 Synonymous SNV P456P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.185 281674 chr11 1024897 1024897 C T rs374582581 MUC6 Nonsynonymous SNV E1058K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 281675 chr11 3381289 3381289 T C rs756394591 ZNF195 Nonsynonymous SNV K245E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 281676 chr11 4139589 4139589 C A rs374392005 RRM1 Synonymous SNV G8G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 281677 chr11 1281890 1281890 G A rs374862914 MUC5B Synonymous SNV L5667L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.515 281678 chr7 99758517 99758517 A T rs140969276 GAL3ST4 Synonymous SNV A165A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.472 281679 chr11 4881252 4881252 A G rs16906807 OR51H1 Synonymous SNV C181C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.298 281680 chr18 72997906 72997906 A G rs201448115 TSHZ1 Nonsynonymous SNV S182G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.792 281681 chr11 5199612 5199612 C T rs143623546 OR52Z1 Nonsynonymous SNV D77N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.525 281682 chr19 8922623 8922623 G A ZNF558 Synonymous SNV D110D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.828 281683 chr7 100550501 100550501 T G rs796567280 MUC3A Nonsynonymous SNV L361W 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.432 281684 chr7 100550525 100550525 C T rs796627084 MUC3A Nonsynonymous SNV P369L 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 6.006 281685 chr7 100550534 100550534 C G rs796422604 MUC3A Nonsynonymous SNV S372C 0 0 0.003 2 0 0 0.005 1 0 0 0 0 7.342 281686 chr7 100550549 100550549 C T rs796558082 MUC3A Nonsynonymous SNV T377I 0 0 0 2 0 0 0.005 0 0 0 0 0 7.715 281687 chr19 9057267 9057267 T C MUC16 Nonsynonymous SNV K10060R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.456 281688 chr11 6129106 6129106 T C rs368380463 OR56B4 Nonsynonymous SNV L33P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 281689 chr19 9085152 9085152 T C MUC16 Synonymous SNV V2221V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.598 281690 chr19 1270243 1270243 G C rs562461622 CIRBP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.692 281691 chr7 100961446 100961446 C T rs149034136 IFT22 Synonymous SNV T55T 0 0 0 2 0 0 0.005 0 0 0 0 0 13.5 281692 chr11 6964840 6964840 T C ZNF215 Star tloss M227T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.51 281693 chr11 6806948 6806948 A C OR2AG1 Nonsynonymous SNV H227P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 281694 chr19 17547291 17547291 C T rs767387327 TMEM221 Nonsynonymous SNV M284I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 281695 chr11 18062248 18062248 A G TPH1 Nonsynonymous SNV I21T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 281696 chr11 10785246 10785246 C T CTR9 Synonymous SNV S338S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 281697 chr19 18255376 18255376 T C MAST3 Synonymous SNV L866L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 281698 chr19 19756270 19756270 C T rs141473818 ATP13A1 Synonymous SNV Q1192Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.25 281699 chr14 101349014 101349014 C T rs549437314 RTL1 Synonymous SNV A704A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.306 281700 chr11 18955955 18955955 C T rs200974967 MRGPRX1 Stop gain W126X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 281701 chr19 21365747 21365747 G T rs139391034 ZNF431 Nonsynonymous SNV C215F 0 0 0.007 0 0 0 0 2 0 0 0 0 12.25 281702 chr11 46897115 46897115 G T rs61746928 LRP4 Synonymous SNV R1273R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.25 281703 chr10 126715251 126715251 G C CTBP2 Nonsynonymous SNV R360G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.118 281704 chr11 47350220 47350220 A G MADD Nonsynonymous SNV K1499E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 281705 chr11 47469686 47469686 A T RAPSN Nonsynonymous SNV I70N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 281706 chr11 47809794 47809794 A G rs761440602 NUP160 Nonsynonymous SNV I1229T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 281707 chr7 37936662 37936662 A G rs775868906 NME8 Nonsynonymous SNV N579D 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Uncertain significance 0.006 281708 chr19 35719099 35719099 C T rs768484282 FAM187B Nonsynonymous SNV R162H 0 0 0.007 0 0 0 0 2 0 0 0 0 27.1 281709 chr19 36212528 36212528 T A KMT2B Nonsynonymous SNV L760Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 281710 chr7 48390265 48390265 C A rs781106297 ABCA13 Nonsynonymous SNV N3410K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 281711 chr11 56020051 56020051 G A rs543165988 OR5T3 Nonsynonymous SNV G126R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 281712 chr19 39016100 39016100 C T rs142340057 RYR1 Synonymous SNV T3523T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.34 281713 chr1 196876016 196876016 G T CFHR4 Nonsynonymous SNV E155D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 281714 chr11 57188508 57188508 C G rs375000008 SLC43A3 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 281715 chr1 244217638 244217638 G A rs747598258 ZBTB18 Nonsynonymous SNV E179K 0.003 0 0 1 3 0 0.003 0 0 0 0 0 24 281716 chr7 100549540 100549540 A T MUC3A Nonsynonymous SNV S41C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.059 281717 chr11 57512612 57512612 T C rs760296393 BTBD18 Nonsynonymous SNV K378R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 281718 chr11 62284469 62284469 G A rs116528762 AHNAK Nonsynonymous SNV S5807F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.9 281719 chr11 62287678 62287678 G A rs114273507 AHNAK Synonymous SNV G4737G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.056 281720 chr11 62289409 62289409 G A rs151066838 AHNAK Synonymous SNV G4160G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.173 281721 chr11 62289508 62289508 C T rs141008505 AHNAK Synonymous SNV P4127P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.789 281722 chr11 62291129 62291129 T C rs115937732 AHNAK Nonsynonymous SNV N3587S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 281723 chr11 62292349 62292349 G A rs147436257 AHNAK Synonymous SNV D3180D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.57 281724 chr11 62292980 62292980 A C rs148663483 AHNAK Nonsynonymous SNV L2970W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.5 281725 chr11 62293472 62293472 C T rs76672664 AHNAK Nonsynonymous SNV C2806Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.519 281726 chr11 62293916 62293916 C A rs145624418 AHNAK Nonsynonymous SNV G2658V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.6 281727 chr11 62294512 62294512 A G rs75858820 AHNAK Synonymous SNV D2459D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.007 281728 chr11 62295271 62295271 A C rs149402141 AHNAK Synonymous SNV V2206V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.019 281729 chr11 62295832 62295832 T G rs146346317 AHNAK Nonsynonymous SNV K2019N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.2 281730 chr11 62297320 62297320 A G rs114078400 AHNAK Synonymous SNV F1523F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.078 281731 chr11 62297399 62297399 G C rs116499851 AHNAK Nonsynonymous SNV P1497R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 281732 chr11 62297410 62297410 A G rs114233286 AHNAK Synonymous SNV D1493D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.022 281733 chr11 62298074 62298074 C G rs115325511 AHNAK Nonsynonymous SNV R1272P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.491 281734 chr11 62298701 62298701 C T rs115660558 AHNAK Nonsynonymous SNV R1063K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 281735 chr11 62299744 62299744 A G rs114557263 AHNAK Synonymous SNV Y715Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.029 281736 chr11 62300711 62300711 C T rs116379346 AHNAK Nonsynonymous SNV G393E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 281737 chr11 62300713 62300713 C T rs114187073 AHNAK Synonymous SNV Q392Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.364 281738 chr19 47291206 47291206 G C SLC1A5 Nonsynonymous SNV P6R 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 281739 chr19 47342039 47342039 G A rs773768685 AP2S1 Synonymous SNV F57F 0 0 0.007 0 0 0 0 2 0 0 0 0 11.84 281740 chr11 61254047 61254047 T G PPP1R32 Nonsynonymous SNV F247V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 281741 chr1 214837032 214837032 G A rs763290470 CENPF Synonymous SNV P3080P 0.003 0 0 0 3 0 0 0 0 0 0 0 7.775 281742 chr11 64137733 64137733 G T rs753141796 RPS6KA4 Nonsynonymous SNV A606S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.19 281743 chr19 50453441 50453441 C T SIGLEC11 Nonsynonymous SNV G532D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.689 281744 chr14 89039234 89039234 T C rs144601125 ZC3H14 Synonymous SNV D93D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 0.003 281745 chr11 65793539 65793539 G A rs759744256 CATSPER1 Synonymous SNV A104A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.87 281746 chr11 64684497 64684497 C A ATG2A Nonsynonymous SNV Q37H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 281747 chr7 120428686 120428686 G A rs138647595 TSPAN12 Nonsynonymous SNV A293V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 281748 chr19 51227733 51227733 C - CLEC11A R135Afs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 281749 chr1 227922965 227922965 C A rs764993970 JMJD4 Stop gain E50X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 281750 chr11 68030139 68030139 C T rs752357458 C11orf24 Synonymous SNV T108T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 281751 chr11 66249888 66249888 G A rs536918372 DPP3 Nonsynonymous SNV D73N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 281752 chr11 71146630 71146630 T A rs770819693 DHCR7 Nonsynonymous SNV N407Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 28.1 281753 chr15 100514677 100514677 T G ADAMTS17 Nonsynonymous SNV Y1073S 0 0.003 0 0 0 1 0 0 0 0 0 0 25 281754 chr11 68773314 68773314 C T rs767308722 MRGPRF Nonsynonymous SNV R155Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 281755 chr11 74414440 74414440 G A rs146734849 CHRDL2 Nonsynonymous SNV R221C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 281756 chr19 53554082 53554082 C A rs191385202 ERVV-2 Nonsynonymous SNV F526L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 281757 chr11 77348750 77348750 G A rs773922206 CLNS1A Nonsynonymous SNV L4F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 281758 chr11 74419422 74419422 C T rs542301374 CHRDL2 Nonsynonymous SNV G86S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 281759 chr19 54481443 54481443 G A CACNG8 Synonymous SNV E109E 0 0 0.007 0 0 0 0 2 0 0 0 0 13.42 281760 chr11 82693214 82693214 A G rs750278773 RAB30 Nonsynonymous SNV F202S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 281761 chr1 20650001 20650001 C T rs146423282 VWA5B1 Synonymous SNV S373S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.49 281762 chr19 55174503 55174503 G A rs36220282 LILRB4 Synonymous SNV T6T 0.002 0 0.014 0 2 0 0 4 0 0 0 0 7.106 281763 chr7 149462294 149462296 AGA - rs779487677 ZNF467 F432del 0 0 0 1 0 0 0.003 0 0 0 0 0 281764 chr7 150095082 150095082 C G ZNF775 Nonsynonymous SNV P505A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 281765 chr11 94040408 94040408 C T rs778163552 IZUMO1R Synonymous SNV D142D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.63 281766 chr11 100847117 100847117 G A ARHGAP42 Nonsynonymous SNV G729R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 281767 chr11 95712527 95712527 T C rs201299551 MAML2 Nonsynonymous SNV Q1019R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 281768 chr8 133044148 133044148 C T rs143549682 OC90 Synonymous SNV E337E 0 0 0 2 0 0 0.005 0 0 0 0 0 13.5 281769 chr7 150749527 150749527 C T rs374555174 ASIC3 Stop gain R495X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 281770 chr19 56969536 56969536 G A rs150516002 ZNF667 Nonsynonymous SNV R81C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 281771 chr11 103029495 103029495 A G rs769412735 DYNC2H1 Nonsynonymous SNV D1406G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 281772 chr7 157985171 157985171 C T rs140977880 PTPRN2 Nonsynonymous SNV V95I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 281773 chr19 5783713 5783713 G A rs141874203 PRR22 Nonsynonymous SNV P182L 0 0 0.01 0 0 0 0 3 0 0 0 0 23.8 281774 chr11 111899579 111899579 A G rs143107853 DLAT Synonymous SNV Q190Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.014 281775 chr11 108382266 108382266 G A rs778700928 EXPH5 Nonsynonymous SNV T1135M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 281776 chr8 143625027 143625027 C T rs757570335 ADGRB1 Synonymous SNV H1505H 0 0 0 2 0 0 0.005 0 0 0 0 0 14.23 281777 chr11 111724392 111724392 T A ALG9 Nonsynonymous SNV M86L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.87 281778 chr11 113281489 113281489 A G rs376186482 DRD2 Nonsynonymous SNV I402T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 281779 chr11 111943820 111943820 G A PIH1D2 Nonsynonymous SNV P27S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 281780 chr19 58867717 58867717 G A rs369499608 ZNF497 Synonymous SNV L429L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.34 281781 chr11 113857677 113857677 G C rs767714014 HTR3A Nonsynonymous SNV E381D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.463 281782 chr11 114401393 114401393 A G rs553185320 NXPE1 Nonsynonymous SNV C113R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 281783 chr19 59074394 59074394 C G rs775048815 MZF1 Nonsynonymous SNV C417S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 281784 chr8 11640887 11640887 C T rs769009968 NEIL2 Stop gain Q162X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 281785 chr11 118919260 118919260 T A rs143389635 HYOU1 Synonymous SNV T727T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.51 281786 chr19 758567 758567 T A rs750250141 MISP Nonsynonymous SNV S541T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 21.4 281787 chr11 119156070 119156070 C T CBL Nonsynonymous SNV P579S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 281788 chr11 121038904 121038904 T A rs757723080 TECTA Nonsynonymous SNV S1910T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 281789 chr11 129788548 129788548 G A rs144671187 PRDM10 Synonymous SNV A614A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 281790 chr1 39759263 39759263 A G rs372718984 MACF1 Nonsynonymous SNV N714S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 281791 chr11 130013256 130013256 C T rs745958507 APLP2 Synonymous SNV L494L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.14 281792 chr1 1078138 1078138 G A rs12022640 LINC01342 0 0 0.003 0 0 0 0 1 0 0 0 0 5.906 281793 chr1 109270482 109270482 T C rs369729211 FNDC7 Synonymous SNV V388V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.092 281794 chr12 2797673 2797673 C T rs770192725 CACNA1C Nonsynonymous SNV P1957S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 281795 chr12 2968282 2968282 G A rs199632659 FOXM1 Nonsynonymous SNV T590M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.561 281796 chr12 6660127 6660127 G A rs201471948 IFFO1 Nonsynonymous SNV R272C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281797 chr1 46184998 46184998 T C rs753521095 IPP Nonsynonymous SNV M355V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 281798 chr1 114438893 114438893 C A rs147573619 AP4B1 Nonsynonymous SNV L331F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 281799 chr12 7459333 7459333 C T rs374165020 ACSM4 Stop gain R136X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 281800 chr12 6637881 6637881 G A rs149244253 NCAPD2 Synonymous SNV A1112A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.71 281801 chr12 10218148 10218148 A G CLEC9A Nonsynonymous SNV K215E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 281802 chr1 1262800 1262800 C T rs188951462 CPTP Nonsynonymous SNV P101L 0 0 0.003 0 0 0 0 1 0 0 0 0 27 281803 chr12 10954420 10954420 G A rs201086265 TAS2R7 Synonymous SNV S250S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.667 281804 chr1 1289843 1289843 G A rs747749017 MXRA8 Synonymous SNV P231P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.957 281805 chr8 110587263 110587263 C A rs747531638 SYBU Nonsynonymous SNV V492F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26 281806 chr12 12279699 12279699 T A LRP6 Nonsynonymous SNV Y1413F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 281807 chr1 33235613 33235613 - GGAGGC rs746399421 KIAA1522 A225_G226insEA 0.001 0 0 0 1 0 0 0 0 0 0 0 281808 chr12 10954955 10954955 T C TAS2R7 Nonsynonymous SNV Y72C 0 0.003 0 0 0 1 0 0 0 0 0 0 1.241 281809 chr8 120770344 120770344 T C rs373917557 TAF2 Nonsynonymous SNV M913V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.26 281810 chr1 150482478 150482478 G A rs759676873 ECM1 Nonsynonymous SNV V129M 0 0 0.007 0 0 0 0 2 0 0 0 0 11.9 281811 chr8 128099214 128099214 A G PRNCR1 0 0 0 1 0 0 0.003 0 0 0 0 0 15.15 281812 chr1 151780058 151780058 G A RORC Synonymous SNV L462L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.38 281813 chr12 21791358 21791358 T C rs752065961 LDHB Synonymous SNV E214E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 281814 chr16 1823012 1823012 C T MRPS34 Nonsynonymous SNV D37N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 281815 chr12 16516778 16516778 C T rs770350835 MGST1 Nonsynonymous SNV L91F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 281816 chr12 18836181 18836181 C T rs751805291 PLCZ1 Nonsynonymous SNV V414I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 281817 chr1 15430539 15430539 C T rs745446583 KAZN Synonymous SNV T634T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.604 281818 chr8 143746419 143746419 G A JRK Synonymous SNV P353P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.251 281819 chr1 156348107 156348107 C T rs267598074 RHBG Nonsynonymous SNV S197L 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 281820 chr1 86123563 86123563 C T rs145038768 ZNHIT6 Nonsynonymous SNV G447R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 281821 chr16 2499285 2499285 C T CCNF Synonymous SNV V99V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 281822 chr12 49485013 49485013 C T rs781595957 DHH Nonsynonymous SNV D155N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 281823 chr16 2812127 2812127 G A rs141736410 SRRM2 Nonsynonymous SNV R533H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 281824 chr16 2812312 2812312 C G SRRM2 Nonsynonymous SNV R595G 0 0.003 0 0 0 1 0 0 0 0 0 0 12 281825 chr16 2815021 2815021 C T rs144544169 SRRM2 Nonsynonymous SNV R1498C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.99 281826 chr12 49431374 49431374 A G rs146213252 KMT2D Synonymous SNV H3255H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.873 281827 chr12 49433848 49433848 C T rs201507971 KMT2D Nonsynonymous SNV G2569S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.73 281828 chr12 49483983 49483983 C T DHH Nonsynonymous SNV G284S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.27 281829 chr12 49719581 49719581 G C TROAP Nonsynonymous SNV D183H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 281830 chr1 160582331 160582331 G T SLAMF1 Nonsynonymous SNV P302T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 281831 chr1 160832463 160832463 A C rs146428268 CD244 Nonsynonymous SNV L2R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 281832 chr20 17434461 17434461 C T rs750145708 PCSK2 Synonymous SNV D285D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 15.54 281833 chr20 17474932 17474932 C G rs993950836 BFSP1 Nonsynonymous SNV Q470H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.97 281834 chr1 167097057 167097057 C T rs768461001 DUSP27 Stop gain R897X 0 0 0.007 0 0 0 0 2 0 0 0 0 36 281835 chr1 1688606 1688606 C A rs368077498 NADK Nonsynonymous SNV G240V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.029 281836 chr1 171300881 171300881 G A FMO4 Nonsynonymous SNV G196E 0 0 0.007 0 0 0 0 2 0 0 0 0 28.2 281837 chr12 57871312 57871312 C A ARHGAP9 Nonsynonymous SNV R45L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 281838 chr12 57871318 57871318 G C ARHGAP9 Nonsynonymous SNV S43C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 281839 chr12 68642609 68642609 C G rs199546412 IL22 Synonymous SNV L170L 0.001 0 0 0 1 0 0 0 0 0 0 0 12 281840 chr12 68647096 68647096 A G rs202073032 IL22 Nonsynonymous SNV S45P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 281841 chr9 33266011 33266011 G T CHMP5 Nonsynonymous SNV D25Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 281842 chr12 64668754 64668754 C - rs754799392 C12orf56 G344Efs*15 0 0.003 0 0 0 1 0 0 0 0 0 0 281843 chr1 180165938 180165938 C T rs201015928 QSOX1 Synonymous SNV R670R 0 0 0.007 0 0 0 0 2 0 0 0 0 13.79 281844 chr9 37740864 37740864 C A rs759170844 FRMPD1 Nonsynonymous SNV P780H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 281845 chr20 34526913 34526913 C T rs62211758 PHF20 Synonymous SNV D865D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 281846 chr1 186329467 186329467 C T rs921709594 TPR Nonsynonymous SNV A377T 0 0 0.007 0 0 0 0 2 0 0 0 0 22.4 281847 chr12 85450234 85450234 A G rs148064791 LRRIQ1 Nonsynonymous SNV I555V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 281848 chr9 78947461 78947461 G C rs146437583 PCSK5 Nonsynonymous SNV Q1534H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.1 281849 chr12 91365699 91365699 G A rs779578980 EPYC Stop gain R194X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 281850 chr1 19446147 19446147 G A UBR4 Synonymous SNV S3453S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.76 281851 chr1 197070312 197070312 C T rs191126815 ASPM Nonsynonymous SNV R2690Q 0 0 0.007 0 0 0 0 2 0 0 0 0 17.05 281852 chr12 96354317 96354317 C A rs138567370 AMDHD1 Synonymous SNV T243T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 281853 chr1 197072729 197072729 A G ASPM Synonymous SNV A1884A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.518 281854 chr1 200619635 200619635 T C rs146518838 DDX59 Nonsynonymous SNV N411S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.15 281855 chr12 99548217 99548217 G A rs749950768 ANKS1B Synonymous SNV D18D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 281856 chr1 201180145 201180145 G C IGFN1 Nonsynonymous SNV E2042Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 281857 chr20 44477173 44477173 G A rs80281112 ACOT8 Nonsynonymous SNV P135L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 281858 chr12 104131427 104131427 A C rs149242623 STAB2 Nonsynonymous SNV N1856H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 281859 chr20 45131347 45131347 A C rs750116919 ZNF334 Nonsynonymous SNV Y173D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.147 281860 chr12 109526182 109526182 T C ALKBH2 Nonsynonymous SNV K139R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.037 281861 chr1 203832834 203832834 G A SNRPE Nonsynonymous SNV R29Q 0 0 0.007 0 0 0 0 2 0 0 0 0 27 281862 chr1 204095192 204095192 G A rs201671514 SOX13 Nonsynonymous SNV R600Q 0 0 0.007 0 0 0 0 2 0 0 0 0 26 281863 chr20 47863958 47863958 G A rs190461938 ZNFX1 Nonsynonymous SNV T1868M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.237 281864 chr12 113770647 113770647 T A rs369553124 SLC8B1 Nonsynonymous SNV S13C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 281865 chr1 204159874 204159874 G C KISS1 Nonsynonymous SNV P52R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 281866 chr9 103334946 103334946 T G MSANTD3-TMEFF1, TMEFF1 Nonsynonymous SNV M423R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 281867 chr9 104152998 104152998 T G MRPL50 Nonsynonymous SNV E76A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.9 281868 chr12 119594406 119594406 C G SRRM4 Nonsynonymous SNV R547G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 281869 chr1 206647733 206647733 C T rs202043961 IKBKE Synonymous SNV R49R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.74 281870 chr12 25261759 25261759 - AAAA rs529076651 CASC1 0.001 0 0.007 0 1 0 0 2 0 0 1 0 281871 chr16 89346778 89346778 G A rs771351601 ANKRD11 Nonsynonymous SNV P2058S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 281872 chr16 89703086 89703086 G A rs373979011 DPEP1 Synonymous SNV T172T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.32 281873 chr1 220195761 220195761 T C rs150627754 EPRS Nonsynonymous SNV N348S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 281874 chr1 220870053 220870053 G A rs746388879 C1orf115 Nonsynonymous SNV V137M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 281875 chr12 132626496 132626496 G A rs749228331 DDX51 Synonymous SNV S298S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.277 281876 chr9 124073063 124073063 G A rs772864569 GSN Synonymous SNV E202E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.69 281877 chr12 133272468 133272468 A G PXMP2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 281878 chr13 27257047 27257047 G A rs146991188 WASF3 Synonymous SNV R426R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.746 281879 chr21 30252239 30252239 C - rs778957022 N6AMT1 D117Ifs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 281880 chr9 131388807 131388807 C T rs140418358 SPTAN1 Synonymous SNV D2114D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 17.35 281881 chr13 32878101 32878101 C T rs898780809 ZAR1L Nonsynonymous SNV R294K 0 0.003 0 0 0 1 0 0 0 0 0 0 24 281882 chr13 35758123 35758123 A G rs369842812 NBEA Nonsynonymous SNV I1614M 0 0.005 0 1 0 2 0.003 0 0 0 0 0 13.18 281883 chr1 236189326 236189326 G A rs767766333 NID1 Synonymous SNV C618C 0 0 0.007 0 0 0 0 2 0 0 0 0 9.926 281884 chr1 236201523 236201523 G A rs142155830 NID1 Nonsynonymous SNV T389M 0 0 0.007 0 0 0 0 2 0 0 0 0 33 281885 chr13 46554033 46554033 A G rs377252694 ZC3H13 Synonymous SNV P609P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.843 281886 chr9 136256560 136256560 C T rs370999988 STKLD1 Nonsynonymous SNV R191C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 281887 chr13 52440142 52440142 - A CCDC70 Frameshift insertion M200Dfs*46 0 0.003 0 0 0 1 0 0 0 0 0 0 281888 chr9 136653573 136653573 C G VAV2 Nonsynonymous SNV C432S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 281889 chr1 245285240 245285240 G A rs115556370 EFCAB2 Nonsynonymous SNV R131H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 281890 chr17 33884703 33884703 G A rs538967367 SLFN14 Nonsynonymous SNV R127C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.56 281891 chr13 73409508 73409508 - AA rs200683940 PIBF1 0 0.003 0 0 0 1 0 0 0 0 0 0 281892 chr21 15596859 15596859 G A RBM11 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 281893 chr13 98829256 98829256 C T rs758424880 RNF113B Nonsynonymous SNV D79N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.419 281894 chr10 55568816 55568818 CTT - rs755495232 PCDH15 R1663del 0 0 0 2 0 0 0.005 0 0 0 0 0 281895 chr17 36977306 36977306 G A rs778425288 CWC25 Synonymous SNV H13H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.758 281896 chr17 37331550 37331550 G T rs935719056 CACNB1 Synonymous SNV R565R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.64 281897 chr1 248487500 248487500 G A rs759062419 OR2M7 Nonsynonymous SNV T124I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.449 281898 chr1 248487502 248487502 G A rs767907978 OR2M7 Synonymous SNV Y123Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 281899 chr12 29936466 29936466 G A rs975787340 TMTC1 Synonymous SNV I73I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 281900 chr21 34926109 34926109 C T rs570810134 SON Synonymous SNV Y1524Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.095 281901 chr10 7773845 7773845 G A rs566152480 ITIH2 Synonymous SNV T511T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.474 281902 chr13 114782724 114782724 C T rs370142174 RASA3 Nonsynonymous SNV A367T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 281903 chr1 29609459 29609459 G C rs767744520 PTPRU Nonsynonymous SNV G714R 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 281904 chr10 13698817 13698817 G C FRMD4A Synonymous SNV V615V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.727 281905 chr12 49690625 49690625 C A LOC101927267 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 281906 chr1 36550608 36550608 A G rs113540666 TEKT2 Nonsynonymous SNV Q29R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.44 281907 chr2 120369295 120369295 C T rs149304410 CFAP221 Nonsynonymous SNV R430W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 281908 chr1 39879865 39879865 G A KIAA0754 Nonsynonymous SNV A1310T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.377 281909 chr14 23532193 23532193 T C rs114105349 ACIN1 Nonsynonymous SNV Q274R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.37 281910 chr14 23746320 23746320 C T rs559636473 HOMEZ Synonymous SNV A39A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 281911 chr14 51206121 51206121 T C NIN Nonsynonymous SNV M1132V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.576 281912 chr14 45645785 45645785 G A rs755082451 FANCM Synonymous SNV S1250S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.701 281913 chr14 57046748 57046748 T C rs575803718 TMEM260 Nonsynonymous SNV V39A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 281914 chr14 51223289 51223289 T C rs139458897 NIN Nonsynonymous SNV K1487E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.722 281915 chr10 71052060 71052060 G A rs192516988 HK1 Nonsynonymous SNV R25H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.019 281916 chr14 59977465 59977465 C T rs746346733 CCDC175 Nonsynonymous SNV R735H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.732 281917 chr1 62739169 62739169 T G KANK4 Nonsynonymous SNV E536A 0 0 0.007 0 0 0 0 2 0 0 0 0 2.558 281918 chr1 63307174 63307174 C T rs142574206 ATG4C Stop gain R389X 0 0 0.007 0 0 0 0 2 0 0 0 0 45 281919 chr22 46659136 46659136 G A rs745995245 PKDREJ Synonymous SNV R28R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 281920 chr22 46659143 46659143 A G rs7293071 PKDREJ Nonsynonymous SNV V26A 0.002 0 0 0 2 0 0 0 1 0 0 0 0.226 281921 chr14 67389559 67389559 A G rs151322023 GPHN Synonymous SNV Q211Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.207 281922 chr12 93163950 93163950 C T rs200566079 PLEKHG7 Synonymous SNV P373P 0.003 0.005 0 0 4 2 0 0 0 0 0 0 11.15 281923 chr17 6555284 6555284 C G rs749242374 C17orf100 Synonymous SNV T17T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.043 281924 chr14 74969471 74969471 G A rs764652187 LTBP2 Synonymous SNV T1685T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.58 281925 chr14 70990864 70990864 G A rs144157291 ADAM20 Nonsynonymous SNV T204I 0 0.003 0 0 0 1 0 0 0 0 0 0 5.681 281926 chr1 85029085 85029085 A G rs143993403 CTBS Nonsynonymous SNV I271T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.1 281927 chr14 73969624 73969624 C T rs201974868 HEATR4 Nonsynonymous SNV G694R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 281928 chr10 88702626 88702626 C T rs374420750 MMRN2 Nonsynonymous SNV V639M 0 0 0 1 0 0 0.003 0 0 0 0 0 5.059 281929 chr14 77844850 77844850 G A rs138849567 SAMD15 Synonymous SNV E363E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.317 281930 chr10 90682949 90682949 G T rs142754924 STAMBPL1 Nonsynonymous SNV D427Y 0 0 0 1 0 0 0.003 0 0 0 0 0 31 281931 chr10 91144470 91144470 C A rs756515884 IFIT1B Nonsynonymous SNV A467D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 281932 chr1 89598945 89598945 A T rs143276909 GBP7 Nonsynonymous SNV M553K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 281933 chr1 898852 898852 C T rs117269332 KLHL17 Synonymous SNV A441A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.07 281934 chr10 97515953 97515953 - C rs766694309 ENTPD1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 281935 chr14 100847432 100847432 G A WDR25 Synonymous SNV V57V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.41 281936 chr10 134219193 134219193 G A rs200615897 PWWP2B Nonsynonymous SNV G397S 0 0 0 2 0 0 0.005 0 0 0 0 0 2.682 281937 chr10 105037718 105037718 C T rs764603527 INA Synonymous SNV A250A 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 281938 chr20 23065524 23065524 C T CD93 Nonsynonymous SNV G436S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.776 281939 chr10 105837263 105837263 T C rs749826443 COL17A1 Nonsynonymous SNV Y40C 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 281940 chr10 111893345 111893346 AG - ADD3 N666Qfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 281941 chr14 104641390 104641390 G A rs768352907 KIF26A Synonymous SNV R755R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 281942 chr10 112839127 112839127 G T rs369219397 ADRA2A Nonsynonymous SNV R458L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 281943 chr15 24921894 24921894 A G rs139890361 NPAP1 Nonsynonymous SNV I294V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 281944 chr2 110970318 110970328 CTTGTTGATGC - MTLN H8Nfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 281945 chr20 3278691 3278691 T C rs778246489 C20orf194 Synonymous SNV Q638Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.251 281946 chr15 23049060 23049060 C T rs781769053 NIPA1 Synonymous SNV E178E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.56 281947 chr20 33539598 33539598 G A rs149280710 GSS Nonsynonymous SNV R20W 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 281948 chr10 118957057 118957057 C G rs139919378 KCNK18 Nonsynonymous SNV L20V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 1.54 281949 chr15 38233398 38233398 C T TMCO5A Synonymous SNV L146L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 281950 chr15 28260052 28260052 C T rs141603023 OCA2 Nonsynonymous SNV R305Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.53 281951 chr15 31294451 31294451 C G rs16956430 TRPM1 Synonymous SNV T1501T 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 11.63 281952 chr2 166535757 166535757 G T CSRNP3 Nonsynonymous SNV V418F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.762 281953 chr20 39992343 39992343 G T rs146612336 EMILIN3 Nonsynonymous SNV P150H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 281954 chr20 43355759 43355759 G T rs901230407 CCN5 Nonsynonymous SNV C106F 0 0 0.007 0 0 0 0 2 0 0 0 0 0.916 281955 chr20 45242274 45242274 C T rs763705904 SLC13A3 Nonsynonymous SNV V68I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.624 281956 chr15 42985863 42985863 C T STARD9 Synonymous SNV N4029N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.75 281957 chr15 43814831 43814831 C A MAP1A Nonsynonymous SNV A387E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 281958 chr20 489190 489190 C T rs773390884 CSNK2A1 Synonymous SNV S2S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.66 281959 chr20 54824870 54824870 A C rs766088288 MC3R X324S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.59 281960 chr17 8383447 8383447 G C MYH10 Nonsynonymous SNV Q1829E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 281961 chr20 57210766 57210766 C T rs148705050 LINC01711 0 0 0.007 0 0 0 0 2 0 0 0 0 2.004 281962 chr15 52553141 52553141 C T rs201603903 MYO5C Nonsynonymous SNV D411N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 281963 chr15 45453060 45453060 T - rs779125076 DUOX1 L1243Rfs*24 0 0.003 0 0 0 1 0 0 0 0 0 0 281964 chr18 20596846 20596846 A G rs755535054 RBBP8 Nonsynonymous SNV R805G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 281965 chr11 2924514 2924514 C A rs774791194 SLC22A18 Nonsynonymous SNV P65H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.65 281966 chr18 28650713 28650713 T G DSC2 Nonsynonymous SNV E743D 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27 281967 chr15 65689288 65689288 C T rs776835507 IGDCC4 Nonsynonymous SNV R294H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 281968 chr20 62729229 62729229 C T rs745570699 OPRL1 Nonsynonymous SNV T98M 0 0 0.003 0 0 0 0 1 0 0 0 0 28 281969 chr15 66262986 66262986 G A rs560375185 MEGF11 Synonymous SNV G268G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 281970 chr20 62853322 62853322 G A rs748693281 MYT1 Nonsynonymous SNV R773Q 0 0 0.007 0 0 0 0 2 0 0 0 0 28 281971 chr15 68603418 68603418 C T rs200822139 ITGA11 Nonsynonymous SNV A1030T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 281972 chr15 70388562 70388562 C G rs773923905 TLE3 Synonymous SNV T21T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 281973 chr2 179736225 179736225 C G rs746167856 CCDC141 Nonsynonymous SNV D712H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 281974 chr15 73615084 73615084 G A rs140402087 HCN4 Nonsynonymous SNV P1117L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.9 281975 chr15 69718760 69718760 G A rs374916480 KIF23 Synonymous SNV Q201Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.246 281976 chr21 40570895 40570895 G T rs747796867 BRWD1 Nonsynonymous SNV T1816N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 281977 chr15 73616136 73616136 G A HCN4 Synonymous SNV T766T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.785 281978 chr21 40694941 40694941 C T rs1037562912 BRWD1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.045 281979 chr2 203079140 203079140 G A SUMO1 Synonymous SNV H10H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.808 281980 chr2 219878063 219878063 G A rs778587322 CFAP65 Nonsynonymous SNV P1292L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 281981 chr15 78398140 78398140 G A rs199794998 CIB2 Synonymous SNV D112D 0 0.003 0 0 0 1 0 0 0 0 0 0 8 281982 chr18 67860685 67860686 TG - RTTN T282Sfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 281983 chr2 206605245 206605245 A G rs144509196 NRP2 Synonymous SNV V383V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.884 281984 chr15 81229184 81229184 C T rs144787399 CEMIP Nonsynonymous SNV T1060M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 281985 chr15 81558119 81558119 G A rs201141132 IL16 Nonsynonymous SNV D181N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 281986 chr11 3849192 3849192 C T rs142893260 RHOG Synonymous SNV A59A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.23 281987 chr21 45978181 45978181 A G rs782527756 KRTAP10-3 Nonsynonymous SNV S140P 0 0 0.007 0 0 0 0 2 0 0 0 0 19.38 281988 chr14 24877573 24877573 G A NYNRIN Nonsynonymous SNV A233T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.796 281989 chr11 5475022 5475023 TT - rs773828247 OR51I2 F102Sfs*19 0.001 0 0 1 1 0 0.003 0 0 0 0 0 281990 chr22 19127141 19127141 G C ESS2 Synonymous SNV L224L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.652 281991 chr16 320781 320781 C T rs139192549 RGS11 Synonymous SNV A159A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 281992 chr15 90176919 90176919 T C rs772000394 KIF7 Nonsynonymous SNV K864E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 281993 chr15 91769609 91769609 A G SV2B Nonsynonymous SNV H39R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 281994 chr16 1267965 1267965 C A CACNA1H Synonymous SNV T1784T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 281995 chr22 26164407 26164407 C T rs563679638 MYO18B Nonsynonymous SNV A175V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.701 281996 chr22 30695478 30695478 C T rs139266182 TBC1D10A Synonymous SNV L131L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 281997 chr16 721906 721906 G T rs768577584 RHOT2 Nonsynonymous SNV S283I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 281998 chr22 31836757 31836757 A C EIF4ENIF1 Synonymous SNV P709P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.897 281999 chr16 1399544 1399544 C T rs776069690 TSR3 Nonsynonymous SNV G278E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.085 282000 chr16 1502883 1502883 C T rs780959736 CLCN7 Nonsynonymous SNV R385Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.7 282001 chr16 1810460 1810460 G A rs778619806 MAPK8IP3 Nonsynonymous SNV E455K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 282002 chr22 35660816 35660816 G A rs926577181 HMGXB4 Synonymous SNV K36K 0 0 0.007 0 0 0 0 2 0 0 0 0 6.829 282003 chr22 37524279 37524279 G A rs777099904 IL2RB Nonsynonymous SNV P505S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.042 282004 chr2 27676322 27676322 G A rs369191459 IFT172 Nonsynonymous SNV R1294C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 282005 chr22 37603003 37603003 G A rs770081383 SSTR3 Synonymous SNV N280N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.211 282006 chr16 3633447 3633447 T G rs756198942 SLX4 Nonsynonymous SNV T1602P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 282007 chr16 4310501 4310501 C G rs746602719 TFAP4 Synonymous SNV L207L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 282008 chr16 4387519 4387519 G A rs371022001 GLIS2 Synonymous SNV V523V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.74 282009 chr16 4411182 4411182 C A rs577331784 CORO7, CORO7-PAM16 Synonymous SNV T500T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 282010 chr16 2354020 2354020 C T rs556996851 ABCA3 Nonsynonymous SNV V473I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 20.6 282011 chr16 2764137 2764137 G T rs991776566 PRSS27 Nonsynonymous SNV P44H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 282012 chr2 238253350 238253350 G C rs781087176 COL6A3 Nonsynonymous SNV S1830R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 18.94 282013 chr16 3447511 3447511 T C ZSCAN32 Nonsynonymous SNV K16R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.087 282014 chr11 16816068 16816068 G A rs147188386 PLEKHA7 Synonymous SNV P904P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 282015 chr22 45579370 45579370 A G NUP50 Synonymous SNV T391T 0 0 0.007 0 0 0 0 2 0 0 0 0 5.561 282016 chr2 241685573 241685573 C T rs183359489 KIF1A Nonsynonymous SNV V928M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 282017 chr16 10721523 10721523 T C rs145280952 TEKT5 Nonsynonymous SNV N459D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 282018 chr16 20857615 20857615 T C REXO5 Synonymous SNV L702L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 282019 chr19 2252626 2252626 C T rs35356610 JSRP1 Nonsynonymous SNV R233Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.199 282020 chr11 26586729 26586729 G A rs139953401 MUC15 Nonsynonymous SNV T226M 0.003 0 0 1 3 0 0.003 0 0 0 0 0 23.5 282021 chr22 50987025 50987025 C T KLHDC7B Stop gain Q785X 0 0 0.007 0 0 0 0 2 0 0 0 0 28.4 282022 chr2 100019391 100019391 C A rs28382972 REV1 Synonymous SNV G1114G 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 282023 chr2 100038076 100038076 C T rs28382926 REV1 Synonymous SNV A571A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.71 282024 chr2 100046325 100046325 A G rs145649417 REV1 Synonymous SNV I507I 0 0 0.007 0 0 0 0 2 0 0 0 0 11.44 282025 chr2 100623286 100623286 G A rs34170229 AFF3 Synonymous SNV V252V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.878 282026 chr2 100916258 100916258 G A rs77866077 LONRF2 Synonymous SNV S396S 0 0 0.007 0 0 0 0 2 0 0 0 0 8.921 282027 chr2 101881351 101881351 A G rs763176328 CNOT11 Nonsynonymous SNV I293V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 282028 chr16 30365061 30365061 T A CD2BP2 Nonsynonymous SNV S146C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.655 282029 chr2 102851670 102851670 G T rs141789680 IL1RL2 Synonymous SNV P395P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 4.446 282030 chr16 24881247 24881247 A G rs140183762 SLC5A11 Nonsynonymous SNV N14S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 282031 chr16 46726457 46726457 G A ORC6 Nonsynonymous SNV S120N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 282032 chr16 31075541 31075541 C T rs778856107 ZNF668 Synonymous SNV K80K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 282033 chr16 31075570 31075570 C A rs776177900 ZNF668 Nonsynonymous SNV G71W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 282034 chr16 31089680 31089680 G T ZNF646 Nonsynonymous SNV G679C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 282035 chr16 56396968 56396968 T A AMFR Nonsynonymous SNV K595N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 282036 chr2 80620371 80620371 T G CTNNA2 Nonsynonymous SNV I43M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 282037 chr19 36244990 36244990 G A rs758497685 LIN37 Nonsynonymous SNV G159R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 282038 chr16 46649869 46649869 A C rs952511681 SHCBP1 Nonsynonymous SNV I157M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 282039 chr15 31220771 31220771 G A FAN1 Nonsynonymous SNV G835E 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 282040 chr2 131487453 131487453 T C rs761339340 GPR148 Synonymous SNV Y243Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.072 282041 chr19 3739078 3739078 G A rs142305153 TJP3 Nonsynonymous SNV R526H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 282042 chr16 66527105 66527105 G A rs771159228 BEAN1 Nonsynonymous SNV A130T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.479 282043 chr16 68404942 68404942 G A rs372627605 SMPD3 Synonymous SNV Y381Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.109 282044 chr2 153493098 153493098 C T rs781229566 FMNL2 Synonymous SNV I946I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.8 282045 chr19 3905445 3905445 G A rs762132813 ATCAY Synonymous SNV T50T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.073 282046 chr16 69922030 69922030 C G rs13329812 WWP2 Synonymous SNV T148T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.935 282047 chr16 70778433 70778433 G A rs887210791 VAC14 Nonsynonymous SNV A240V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 282048 chr3 108698496 108698496 C T rs751712209 MORC1 Nonsynonymous SNV M781I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.296 282049 chr16 71748602 71748602 C A PHLPP2 Nonsynonymous SNV V33F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 282050 chr2 166246105 166246105 G A SCN2A Nonsynonymous SNV S1930N 0 0 0.007 0 0 0 0 2 0 0 0 0 3.243 282051 chr16 72831505 72831505 G T ZFHX3 Synonymous SNV P778P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 282052 chr2 7027125 7027125 - T RSAD2 Frameshift insertion I191Yfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 282053 chr2 167992435 167992435 G A XIRP2 Nonsynonymous SNV R142Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 282054 chr16 75268966 75268966 T G BCAR1 Nonsynonymous SNV T401P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.534 282055 chr16 74335550 74335550 C G PSMD7 Synonymous SNV S119S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.65 282056 chr2 170063063 170063063 G A LRP2 Synonymous SNV F2389F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.293 282057 chr16 74716659 74716659 G A MLKL Synonymous SNV V282V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 282058 chr16 74750319 74750319 G A rs373010581 FA2H Nonsynonymous SNV S322L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 33 282059 chr16 75271224 75271224 C T rs780049900 BCAR1 Nonsynonymous SNV V8M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 282060 chr19 4362646 4362646 G A rs146255193 SH3GL1 Synonymous SNV N224N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.293 282061 chr16 84203532 84203532 C T rs1014231886 DNAAF1 Synonymous SNV P130P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.91 282062 chr16 86588282 86588282 C G rs555087275 MTHFSD Nonsynonymous SNV R31P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 282063 chr15 66790009 66790009 C T rs747021147 SNAPC5 Nonsynonymous SNV A21T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 282064 chr19 45186724 45186724 G A rs142350602 CEACAM19 Nonsynonymous SNV D288N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 282065 chr11 61135416 61135416 A G rs753234953 TMEM138 Nonsynonymous SNV N50D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.66 282066 chr19 45856360 45856360 C A ERCC2 Synonymous SNV V604V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 282067 chr15 73862513 73862513 C T rs779090521 NPTN Synonymous SNV K248K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 282068 chr19 47572569 47572569 C G rs113113003 ZC3H4 Synonymous SNV G726G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 282069 chr16 89627454 89627454 G A rs754293506 RPL13 Synonymous SNV P29P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 282070 chr11 63963221 63963221 C A rs768117744 STIP1 Nonsynonymous SNV P250H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 282071 chr17 1656002 1656002 G T SERPINF2 Synonymous SNV V263V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.539 282072 chr3 146167053 146167053 T C rs150056221 PLSCR2 Synonymous SNV Q264Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 282073 chr11 65367143 65367143 C T rs778215901 MAP3K11 Nonsynonymous SNV R643Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.79 282074 chr3 153202386 153202386 T G rs765561464 C3orf79 0.001 0 0 0 1 0 0 0 0 0 0 0 8.627 282075 chr17 3181689 3181689 T C rs201767868 OR3A2 Nonsynonymous SNV N181D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.17 282076 chr2 219269135 219269135 G A rs201339848 CTDSP1 Nonsynonymous SNV R257Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 282077 chr2 219824571 219824571 C T rs201718137 CDK5R2 Nonsynonymous SNV A10V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 282078 chr11 68029677 68029677 C T rs143819952 C11orf24 Synonymous SNV V262V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 282079 chr11 68704038 68704038 C T rs77807333 IGHMBP2 Nonsynonymous SNV P697L 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 11.36 282080 chr11 68748357 68748357 C T rs779310319 MRGPRD Synonymous SNV L33L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.176 282081 chr15 90934019 90934019 T G rs766493603 IQGAP1 Nonsynonymous SNV N23K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 22.4 282082 chr17 6902294 6902294 C T rs774053234 ALOX12 Nonsynonymous SNV R189C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 282083 chr11 72470381 72470381 C T rs775729949 STARD10 Nonsynonymous SNV V85I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 282084 chr2 225638063 225638063 C T rs561385872 DOCK10 Synonymous SNV T1999T 0 0 0.007 0 0 0 0 2 0 0 0 0 4.844 282085 chr3 186015947 186015947 G T DGKG Nonsynonymous SNV S72R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 282086 chr11 78380244 78380244 G A rs189655072 TENM4 Synonymous SNV Y2382Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.121 282087 chr17 9792972 9792972 G A GLP2R Nonsynonymous SNV V538I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 282088 chr11 88911836 88911836 C A rs774670098 TYR Synonymous SNV R239R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.47 282089 chr17 9808334 9808334 T G rs760949730 RCVRN Nonsynonymous SNV K55T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 282090 chr17 10399660 10399660 C T rs146890530 MYH1 Synonymous SNV K1621K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 10.96 282091 chr11 94134381 94134381 G A rs138833584 GPR83 Synonymous SNV L11L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.973 282092 chr19 55449440 55449440 G A rs104895535 NLRP7 Nonsynonymous SNV R701C 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 13.94 282093 chr17 18226381 18226381 C A rs372618795 SMCR8 Synonymous SNV I937I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 282094 chr17 18769215 18769215 T C rs368913854 PRPSAP2 Synonymous SNV F23F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.713 282095 chr3 37033572 37033572 C T EPM2AIP1 Nonsynonymous SNV V333I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 282096 chr3 38662376 38662376 C T rs199473069 SCN5A Nonsynonymous SNV R190Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 282097 chr17 27014205 27014205 G A rs149659188 SUPT6H Nonsynonymous SNV D934N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282098 chr3 39227860 39227860 C T XIRP1 Nonsynonymous SNV G1026E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 282099 chr17 29281525 29281525 C T rs2232279 ADAP2 Synonymous SNV F284F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 282100 chr2 33518258 33518258 C T rs61751741 LTBP1 Synonymous SNV C722C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 282101 chr19 577979 577979 C T rs771729353 BSG Synonymous SNV S91S 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 12.23 282102 chr2 37241000 37241000 A G rs751305536 HEATR5B Nonsynonymous SNV L1423P 0 0 0.007 0 0 0 0 2 0 0 0 0 28.7 282103 chr2 42275483 42275483 C T PKDCC Synonymous SNV G48G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 282104 chr3 45441757 45441757 C T rs114881088 LARS2 Synonymous SNV Y85Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.54 282105 chr2 43459989 43459989 C T rs199949051 THADA Nonsynonymous SNV A1777T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 282106 chr2 48573391 48573391 C A FOXN2 Nonsynonymous SNV A13D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 282107 chr17 35598876 35598876 C T ACACA Nonsynonymous SNV V914I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 282108 chr3 47143034 47143034 G A rs139879059 SETD2 Synonymous SNV N1599N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 282109 chr17 38911179 38911179 A C rs761234426 KRT25 Stop gain Y115X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 282110 chr17 37814687 37814687 G A rs36015615 STARD3 Nonsynonymous SNV C149Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.39 282111 chr2 70351316 70351316 C T rs147938025 LINC01816 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 282112 chr17 39421763 39421763 C T rs751543387 KRTAP9-6 Nonsynonymous SNV S45F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 282113 chr16 23847577 23847577 G T PRKCB Synonymous SNV R27R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.135 282114 chr17 39596878 39596878 G T rs140551162 KRT38 Nonsynonymous SNV T99N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.067 282115 chr2 73490913 73490913 C T rs761253592 FBXO41 Synonymous SNV G656G 0 0 0.007 0 0 0 0 2 0 0 0 0 13.67 282116 chr3 56330369 56330369 G A rs201572436 ERC2 Nonsynonymous SNV A251V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 282117 chr2 85628704 85628704 C T rs35899313 CAPG Nonsynonymous SNV G100D 0 0 0.007 0 0 0 0 2 0 0 0 0 27 282118 chr3 57199220 57199220 C A IL17RD Nonsynonymous SNV R32L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 282119 chr2 86305397 86305397 G A rs183490100 POLR1A Nonsynonymous SNV S366F 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 21.3 282120 chr17 40729580 40729580 C - PSMC3IP 0.001 0 0 0 1 0 0 0 0 0 0 0 282121 chr16 31336008 31336008 C T rs530372107 ITGAM Nonsynonymous SNV R732C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 282122 chr17 41165518 41165518 - GGTGTT rs759202201 IFI35 V137_T138insLV 0.001 0 0 0 1 0 0 0 0 0 0 0 282123 chr17 41199694 41199694 - T BRCA1 Frameshift insertion P1765Afs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 282124 chr17 42225639 42225639 C G rs373213273 HROB Nonsynonymous SNV D156E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 282125 chr11 133790800 133790800 G A rs199607489 IGSF9B Synonymous SNV P940P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 5.455 282126 chr16 53734570 53734570 A G rs760486367 RPGRIP1L Synonymous SNV F22F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.1 282127 chr2 97587362 97587362 C T rs150037926 FAM178B Synonymous SNV P439P 0 0 0.007 0 0 0 0 2 0 0 0 0 16.46 282128 chr17 42397458 42397458 C G rs370506274 SLC25A39 Nonsynonymous SNV A308P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 282129 chr2 99438487 99438487 G A rs138264489 KIAA1211L Nonsynonymous SNV A750V 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 282130 chr2 99439512 99439512 C G rs186269747 KIAA1211L Nonsynonymous SNV E408D 0 0 0.007 0 0 0 0 2 0 0 0 0 7.148 282131 chr3 73673287 73673287 G T rs77852929 PDZRN3 Synonymous SNV L230L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.827 282132 chr3 101395542 101395542 C T rs746380859 ZBTB11 Nonsynonymous SNV D73N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 282133 chr17 42226248 42226248 C G rs149730601 HROB Synonymous SNV P359P 0 0.005 0 0 0 2 0 0 0 0 0 0 10.55 282134 chr17 42455791 42455791 G A rs200481952 ITGA2B Nonsynonymous SNV A678V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 282135 chr3 108072627 108072627 G - rs768160208 HHLA2 V140Ffs*6 0 0 0.007 0 0 0 0 2 0 0 0 0 282136 chr12 6666496 6666496 C T rs61731913 NOP2 Nonsynonymous SNV R697Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 0.02 282137 chr17 47241498 47241498 G A rs201209295 B4GALNT2 Nonsynonymous SNV R272H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 282138 chr17 47656159 47656159 C T rs112340338 NXPH3 Nonsynonymous SNV P86S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 282139 chr3 113172663 113172663 G A rs764155311 SPICE1 Nonsynonymous SNV R598C 0 0 0.007 0 0 0 0 2 0 0 0 0 27.5 282140 chr16 67319380 67319380 C T PLEKHG4 Nonsynonymous SNV R714C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 282141 chr17 48453300 48453300 G A rs779808760 EME1 Nonsynonymous SNV R244K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 282142 chr17 48539869 48539869 C T rs201428015 ACSF2 Nonsynonymous SNV R79W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 282143 chr3 5024919 5024919 T C BHLHE40 Nonsynonymous SNV F261L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 282144 chr3 121207855 121207855 A G POLQ Nonsynonymous SNV V1308A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.018 282145 chr16 70688459 70688459 G C rs139133476 IL34 Nonsynonymous SNV G16A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.64 282146 chr3 52524214 52524214 G A rs372980592 NISCH Nonsynonymous SNV G1194S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 282147 chr17 56599102 56599102 G A rs369390304 SEPTIN4 Nonsynonymous SNV R205C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.87 282148 chr3 122446776 122446776 G A rs201661224 PARP14 Nonsynonymous SNV G1687S 0 0 0.007 0 0 0 0 2 0 0 0 0 4.174 282149 chr3 122843137 122843137 C T rs372365648 PDIA5 Synonymous SNV F240F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 282150 chr3 124536474 124536474 T G ITGB5 Synonymous SNV A266A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.276 282151 chr4 119772094 119772094 A G SYNPO2 Nonsynonymous SNV Q4R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.68 282152 chr17 61910679 61910679 A G SMARCD2 Synonymous SNV R473R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.349 282153 chr17 62038710 62038710 G A rs371523329 SCN4A Nonsynonymous SNV P563L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 282154 chr4 120214045 120214045 A C USP53 Synonymous SNV S916S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.539 282155 chr3 65367700 65367700 G A rs147385291 MAGI1 Synonymous SNV D851D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.043 282156 chr4 122836046 122836046 G T rs779641419 TRPC3 Nonsynonymous SNV N337K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 282157 chr3 127325171 127325171 G A MCM2 Nonsynonymous SNV R295H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 282158 chr4 125593547 125593547 C G rs755384024 ANKRD50 Synonymous SNV L116L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.118 282159 chr17 65944341 65944341 C A BPTF Synonymous SNV L2615L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 282160 chr17 68171678 68171678 C T rs142049682 KCNJ2 Synonymous SNV I166I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 282161 chr17 71165532 71165532 T G rs750119483 SSTR2 Nonsynonymous SNV V25G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 282162 chr17 70845819 70845819 C T rs74444525 SLC39A11 Synonymous SNV R192R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 282163 chr4 145658962 145658962 G A rs35379077 HHIP Synonymous SNV P652P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.53 282164 chr12 41967436 41967436 G A rs769435330 PDZRN4 Nonsynonymous SNV R694K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.7 282165 chr17 7623184 7623184 A G DNAH2 Synonymous SNV P44P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 282166 chr4 100443828 100443828 C A rs116804094 C4orf17 Nonsynonymous SNV A100D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 282167 chr17 73518281 73518281 G A rs746338858 TSEN54 Synonymous SNV Q373Q 0 0.003 0 0 0 1 0 0 0 0 0 0 3.972 282168 chr17 73892712 73892712 C T rs535596424 TRIM65 Nonsynonymous SNV E103K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 282169 chr16 89789980 89789980 G A ZNF276 Nonsynonymous SNV G290E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.557 282170 chr4 169632937 169632937 A G rs368914897 PALLD Synonymous SNV E227E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 282171 chr17 77079161 77079161 G A rs760943455 ENGASE Synonymous SNV V366V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 282172 chr3 172480214 172480214 A G rs138791414 ECT2 Nonsynonymous SNV Y225C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 282173 chr17 78327911 78327911 T C RNF213 Synonymous SNV N3557N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.461 282174 chr3 179437753 179437753 A T USP13 Nonsynonymous SNV E277D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 282175 chr17 78321273 78321273 C G RNF213 Synonymous SNV T3046T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.223 282176 chr17 79234170 79234170 C T rs749062910 SLC38A10 Nonsynonymous SNV V386I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.265 282177 chr3 183778117 183778117 G A rs146776408 HTR3C Nonsynonymous SNV V441I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.427 282178 chr3 184642697 184642697 C G rs373543775 VPS8 Synonymous SNV L821L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 282179 chr12 57605276 57605276 G A rs771447920 LRP1 Synonymous SNV T4366T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.32 282180 chr4 3076665 3076665 - GCAGCAGCAGCAGCAGCAGCCGCCGCC HTT Q38_P39insQQQQQQPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 282181 chr18 3879723 3879723 C T rs771605898 DLGAP1 Nonsynonymous SNV D116N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 282182 chr12 65564314 65564314 G T rs201615997 LEMD3 Nonsynonymous SNV G313V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 282183 chr18 20572924 20572924 A G rs368009600 RBBP8 Synonymous SNV K378K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.782 282184 chr3 196737600 196737600 G T rs145105088 MELTF Synonymous SNV G433G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.769 282185 chr3 197619538 197619538 C T rs766894192 IQCG Synonymous SNV K352K 0 0 0.007 0 0 0 0 2 0 0 0 0 17.58 282186 chr18 21059335 21059335 G A rs773910241 RIOK3 Nonsynonymous SNV A451T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 282187 chr12 81471964 81471964 C A rs575214916 ACSS3 Nonsynonymous SNV P22H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 282188 chr3 38175477 38175477 C T rs759328834 ACAA1 Nonsynonymous SNV G97R 0 0 0.007 0 0 0 0 2 0 0 0 0 34 282189 chr18 47404234 47404234 G A rs751484609 MYO5B Nonsynonymous SNV R1099W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282190 chr3 41746550 41746550 G A rs201639701 ULK4 Nonsynonymous SNV T625M 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 282191 chr3 43096949 43096949 T C GASK1A Nonsynonymous SNV L480P 0 0 0.007 0 0 0 0 2 0 0 0 0 29.2 282192 chr17 20135574 20135574 A G rs370337154 SPECC1 Nonsynonymous SNV N655S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 282193 chr18 47323922 47323922 G A rs145076043 ACAA2 Nonsynonymous SNV R76C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 282194 chr4 3319345 3319345 - C RGS12 Frameshift insertion F486Ifs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 282195 chr18 51809277 51809277 T A rs143700892 POLI Nonsynonymous SNV F168L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.03 282196 chr18 52928743 52928743 G A rs147445499 TCF4 Nonsynonymous SNV A155V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 25.5 282197 chr12 110252565 110252565 C T rs763302555 TRPV4 Nonsynonymous SNV G13R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.5 282198 chr17 27909806 27909806 C T rs140974571 GIT1 Synonymous SNV E105E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.49 282199 chr3 48451889 48451889 C T rs140052429 PLXNB1 Nonsynonymous SNV R1832H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 282200 chr18 72344502 72344502 G A rs369821297 ZNF407 Synonymous SNV P509P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.46 282201 chr12 117660572 117660572 C G NOS1 Nonsynonymous SNV G972A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 282202 chr3 49698316 49698316 C T rs140696444 BSN Nonsynonymous SNV S3013L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 282203 chr12 117725949 117725949 C T rs202090735 NOS1 Nonsynonymous SNV V17I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.552 282204 chr3 49758236 49758236 C T rs144189297 RNF123 Nonsynonymous SNV A1216V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 282205 chr18 77477922 77477922 G A rs145870152 CTDP1 Nonsynonymous SNV D656N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25 282206 chr18 77893983 77893983 G A rs757325949 ADNP2 Synonymous SNV A229A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 282207 chr3 51265426 51265426 G A rs772009590 DOCK3 Synonymous SNV G518G 0 0 0.007 0 0 0 0 2 0 0 0 0 10.2 282208 chr3 51430048 51430048 C G rs782766391 RBM15B Synonymous SNV P406P 0 0 0.007 0 0 0 0 2 0 0 0 0 3.307 282209 chr3 52456829 52456829 A G rs758693905 PHF7 Nonsynonymous SNV D245G 0 0 0.007 0 0 0 0 2 0 0 0 0 11.62 282210 chr3 52476768 52476768 G A rs145924362 SEMA3G Nonsynonymous SNV R91W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 282211 chr18 72346814 72346814 G A rs754662707 ZNF407 Nonsynonymous SNV G1280E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 282212 chr12 121883219 121883219 T C rs782090387 KDM2B Synonymous SNV P623P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.16 282213 chr3 52825833 52825833 A G rs139822553 ITIH1 Nonsynonymous SNV H593R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.448 282214 chr3 52830650 52830650 A C ITIH3 Nonsynonymous SNV T90P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 282215 chr18 77134010 77134010 C T rs774448241 ATP9B Synonymous SNV T1061T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 282216 chr19 1003222 1003222 G A GRIN3B Nonsynonymous SNV V174I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 282217 chr12 124090502 124090502 C A rs367561255 DDX55 Synonymous SNV R45R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.23 282218 chr1 186276741 186276741 G T PRG4 Nonsynonymous SNV E496D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.804 282219 chr12 132514299 132514299 C T rs142436256 EP400 Nonsynonymous SNV P1812L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 282220 chr3 97506849 97506849 G A rs142258123 ARL6 Nonsynonymous SNV R122Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 282221 chr19 1555623 1555623 C T MEX3D Nonsynonymous SNV S632N 0 0.003 0 0 0 1 0 0 0 0 0 0 23 282222 chr4 100574010 100574010 G A C4orf54 Nonsynonymous SNV A599V 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 282223 chr4 109748327 109748327 C T rs760546881 COL25A1 Nonsynonymous SNV M588I 0 0 0.003 0 0 0 0 1 0 0 0 0 21 282224 chr19 6468942 6468942 C G rs772591704 DENND1C Nonsynonymous SNV R433T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 282225 chr19 6670024 6670024 G A rs138116115 TNFSF14 Synonymous SNV I19I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.103 282226 chr5 137260769 137260769 C T PKD2L2 Nonsynonymous SNV A430V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 282227 chr13 44734934 44734934 G A rs936800145 SMIM2 Nonsynonymous SNV R20C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 282228 chr5 138723508 138723508 C T rs771861219 MZB1 Synonymous SNV G172G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 282229 chr5 13923470 13923470 G A rs1026473277 DNAH5 Synonymous SNV N119N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.309 282230 chr4 141543531 141543531 G A rs754331118 TBC1D9 Nonsynonymous SNV R1207W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 282231 chr19 8591358 8591358 C T rs1005137511 MYO1F Nonsynonymous SNV D913N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 282232 chr19 7584454 7584454 A T ZNF358 Nonsynonymous SNV N109I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 282233 chr19 7677504 7677504 G A CAMSAP3 Nonsynonymous SNV A709T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 282234 chr4 164246820 164246820 T A NPY1R Nonsynonymous SNV M264L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.5 282235 chr19 9059151 9059151 G A rs755462681 MUC16 Nonsynonymous SNV P9432L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.604 282236 chr19 10421232 10421232 C T FDX2 Nonsynonymous SNV G164E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 282237 chr19 10692509 10692509 C T rs746859368 AP1M2 Nonsynonymous SNV D105N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 282238 chr13 32972852 32972852 C T rs55853199 BRCA2 Nonsynonymous SNV T3401M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 282239 chr4 2930140 2930140 G A rs377188092 ADD1 Nonsynonymous SNV A702T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.1 282240 chr19 14043745 14043745 G A rs147994983 PODNL1 Nonsynonymous SNV R347C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 282241 chr19 11832559 11832559 G A rs374836446 ZNF823 Nonsynonymous SNV S415F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.16 282242 chr19 14910662 14910662 C G OR7C1 Nonsynonymous SNV G96A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.168 282243 chr5 170648784 170648784 G A RANBP17 Nonsynonymous SNV V788I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 282244 chr5 156378729 156378729 C T rs199980573 TIMD4 Nonsynonymous SNV R158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.385 282245 chr19 15072948 15072948 G A rs138937772 SLC1A6 Synonymous SNV N267N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.87 282246 chr4 48116380 48116380 C T rs149183519 TXK Nonsynonymous SNV C19Y 0.001 0 0.007 0 1 0 0 2 0 0 0 0 24.7 282247 chr4 5733215 5733215 C T EVC Nonsynonymous SNV H150Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 282248 chr19 17014659 17014659 G A rs767266770 CPAMD8 Synonymous SNV C1420C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.47 282249 chr19 17611664 17611664 G C SLC27A1 Nonsynonymous SNV V539L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 282250 chr19 17953329 17953329 T C JAK3 Synonymous SNV R219R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.31 282251 chr19 17452034 17452034 C G rs763886108 GTPBP3 Nonsynonymous SNV P418A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 282252 chr4 68784757 68784757 C T TMPRSS11A Nonsynonymous SNV A296T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 282253 chr4 68784848 68784848 G A rs776170302 TMPRSS11A Synonymous SNV R265R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.402 282254 chr4 71232455 71232493 TTCCACCACCCCATCCTCCACCCTATGGTCCAGGGAGAT - rs780872640 SMR3A H54_P66del 0 0 0.003 0 0 0 0 1 0 0 0 0 282255 chr5 180039583 180039583 C T rs75614493 FLT4 Nonsynonymous SNV G1154R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 282256 chr19 19823567 19823567 C T rs139440307 ZNF14 Nonsynonymous SNV G175R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 282257 chr18 7046276 7046276 C A rs141914419 LAMA1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 282258 chr4 7770586 7770586 C T rs374522041 AFAP1 Synonymous SNV V717V 0 0 0.007 0 0 0 0 2 0 0 0 0 12.58 282259 chr18 10471666 10471666 A G APCDD1 Nonsynonymous SNV I128V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.994 282260 chr19 33642096 33642096 C G rs760385302 WDR88 Nonsynonymous SNV T230R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 282261 chr19 35524964 35524964 G A rs72558028 SCN1B Nonsynonymous SNV G257R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.004 282262 chr18 28934322 28934322 T C rs369546705 DSG1 Synonymous SNV Y721Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 282263 chr4 88537135 88537135 T C rs374679002 DSPP Synonymous SNV D1107D 0 0 0.007 0 0 0 0 2 0 0 1 0 0.015 282264 chr4 88537150 88537150 C T rs529175881 DSPP Synonymous SNV S1112S 0 0 0.007 0 0 0 0 2 0 0 1 0 12.98 282265 chr4 88537153 88537153 T A DSPP Nonsynonymous SNV D1113E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.003 282266 chr4 88537159 88537159 T C rs757871880 DSPP Synonymous SNV S1115S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.771 282267 chr4 88537160 88537160 G A rs777344338 DSPP Nonsynonymous SNV D1116N 0 0 0.007 0 0 0 0 2 0 0 1 0 15.13 282268 chr19 38834710 38834710 C T rs375537032 CATSPERG Nonsynonymous SNV R183C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 282269 chr5 110075071 110075071 G A rs770969480 SLC25A46 Nonsynonymous SNV G84D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.725 282270 chr5 57751154 57751154 C T rs374577682 PLK2 Synonymous SNV V571V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 282271 chr5 112770440 112770440 G A rs201871941 TSSK1B Nonsynonymous SNV R33C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 282272 chr19 39361725 39361725 A G rs138338251 RINL Synonymous SNV H198H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.155 282273 chr19 40542465 40542465 T G ZNF780B Nonsynonymous SNV K101Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 282274 chr19 40719938 40719938 A C MAP3K10 Synonymous SNV T784T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 282275 chr1 44070907 44070907 G A rs562011415 PTPRF Nonsynonymous SNV R757Q 0 0.005 0 0 0 2 0 0 0 0 0 0 18.95 282276 chr5 1242967 1242967 T C rs374479506 SLC6A18 Nonsynonymous SNV F374L 0 0 0.007 0 0 0 0 2 0 0 0 0 23 282277 chr19 40424163 40424163 G A rs142142987 FCGBP Synonymous SNV L680L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.773 282278 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*74 0 0 0 1 0 0 0.003 0 0 0 0 0 282279 chr5 132412386 132412386 A G rs745925489 HSPA4 Nonsynonymous SNV K235R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 282280 chr5 134022540 134022540 G A rs200409503 SEC24A Nonsynonymous SNV E518K 0 0 0.007 0 0 0 0 2 0 0 0 0 34 282281 chr19 42794978 42794978 C T rs536537730 CIC Synonymous SNV I686I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 282282 chr19 42914916 42914916 A G LIPE Nonsynonymous SNV F321S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 282283 chr14 102798082 102798082 C G ZNF839 Nonsynonymous SNV R323G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.38 282284 chr6 42204030 42204030 G A rs375569710 TRERF1 Synonymous SNV P1013P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.208 282285 chr14 103802435 103802435 G A rs777278770 EIF5 Synonymous SNV A45A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 282286 chr19 44612162 44612162 C T rs368686614 ZNF224 Nonsynonymous SNV R617C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.7 282287 chr19 45404515 45404515 C T rs777369210 TOMM40 Synonymous SNV S298S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 282288 chr5 140773090 140773090 A T rs775247725 PCDHGA8 Nonsynonymous SNV D237V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.4 282289 chr5 145477757 145477757 C T rs1039149603 PLAC8L1 Nonsynonymous SNV S73N 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 282290 chr5 145895520 145895520 C T rs766559154 GPR151 Nonsynonymous SNV G53R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 282291 chr19 46289263 46289263 C A DMWD Synonymous SNV P497P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 282292 chr5 149509389 149509389 G A PDGFRB Synonymous SNV L440L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.905 282293 chr5 153429452 153429452 A G rs140399898 MFAP3 Nonsynonymous SNV D57G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.566 282294 chr19 49925792 49925792 G A PTH2 Nonsynonymous SNV A79V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282295 chr6 151334917 151334917 A G MTHFD1L Synonymous SNV V48V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.529 282296 chr19 50826327 50826327 G A rs927538730 KCNC3 Nonsynonymous SNV A552V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.6 282297 chr5 174869848 174869848 C T DRD1 Synonymous SNV E85E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.127 282298 chr19 51128769 51128769 C G SYT3 Synonymous SNV R485R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 282299 chr6 157099333 157099338 CCACCA - rs754114025 ARID1B H95_H96del 0.001 0 0 0 1 0 0 0 0 0 0 0 282300 chr19 51870744 51870744 C T CLDND2 Nonsynonymous SNV G133R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282301 chr5 1814561 1814561 G A NDUFS6 Nonsynonymous SNV V99M 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 282302 chr6 166721298 166721298 C T PRR18 Synonymous SNV S111S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 282303 chr19 53454654 53454654 T C rs139245005 ZNF816 Nonsynonymous SNV H125R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.852 282304 chr5 38952340 38952340 T C rs144230407 RICTOR Nonsynonymous SNV T1029A 0 0.003 0.007 0 0 1 0 2 0 0 0 0 19.64 282305 chr5 42566027 42566027 T C GHR Synonymous SNV D17D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.321 282306 chr5 52778899 52778899 A G FST Nonsynonymous SNV K92R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 282307 chr6 168377010 168377025 GGGGAGGAGAAGACAG - rs769273023 HGC6.3 T103Nfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 282308 chr6 168377027 168377052 GGGGGTCATTCCCCCTGCAGTGTGGG - rs748173416 HGC6.3 P94Hfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 282309 chr19 55711817 55711817 C T rs760246867 PTPRH Nonsynonymous SNV A225T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.269 282310 chr5 63510159 63510159 C T RNF180 Nonsynonymous SNV P336S 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 282311 chr19 55814068 55814068 C T rs770450285 BRSK1 Synonymous SNV G287G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 282312 chr6 28251773 28251773 T C rs149402191 PGBD1 Synonymous SNV A61A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.684 282313 chr5 67494103 67494103 A G rs143585762 LINC02219 0 0 0.007 0 0 0 0 2 0 0 0 0 0.037 282314 chr6 26465618 26465618 A G BTN2A1 Synonymous SNV E245E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.009 282315 chr19 57066592 57066592 A G rs145467620 ZFP28 Nonsynonymous SNV Y813C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.506 282316 chr19 57839565 57839565 C A ZNF543 Nonsynonymous SNV H245Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27 282317 chr19 58048673 58048673 C T rs376132219 ZNF549 Nonsynonymous SNV P88S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.07 282318 chr19 57910162 57910162 C T rs747153591 ZNF548 Synonymous SNV L169L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 282319 chr5 90445963 90445963 G A rs192571483 ADGRV1 Synonymous SNV T6183T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 282320 chr15 86312955 86312955 C T rs200944201 KLHL25 Synonymous SNV P29P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.4 282321 chr20 307287 307287 G C rs758339680 SOX12 Nonsynonymous SNV G240A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 282322 chr20 1099460 1099460 T A rs367981594 PSMF1 Nonsynonymous SNV I15N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 282323 chr6 106960829 106960829 G A rs200879033 CRYBG1 Nonsynonymous SNV A205T 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.65 282324 chr20 60768514 60768514 - CG MTG2 Frameshift insertion V14Afs*17 0.001 0.005 0 0 1 2 0 0 0 0 0 0 282325 chr20 60888708 60888708 G A rs752290946 LAMA5 Synonymous SNV F2885F 0.001 0.005 0 0 1 2 0 0 0 0 0 0 11.97 282326 chr6 65707500 65707500 T C rs201652272 EYS Nonsynonymous SNV N745S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Uncertain significance 23.9 282327 chr15 101718556 101718556 A G CHSY1 Synonymous SNV F482F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 282328 chr20 21492926 21492926 G A NKX2-2 Synonymous SNV L153L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 282329 chr20 23029050 23029050 C T rs73901577 THBD Synonymous SNV E364E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 17.02 282330 chr20 23064931 23064931 C T rs41480746 CD93 Synonymous SNV E633E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.411 282331 chr6 52288928 52288928 C T rs557599173 EFHC1 Nonsynonymous SNV A83V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 18.25 282332 chr6 138699299 138699299 T G rs997642713 SMIM28 Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.408 282333 chr20 25439081 25439081 C T rs115453505 NINL Nonsynonymous SNV E912K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 282334 chr20 30193873 30193873 G A ID1 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 282335 chr20 30904596 30904596 A G rs769315399 KIF3B Nonsynonymous SNV H556R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 282336 chr20 30607101 30607101 C T rs7272208 CCM2L Synonymous SNV S274S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 282337 chr20 30822455 30822455 C T rs7263390 POFUT1 Synonymous SNV D386D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 16.66 282338 chr6 151670811 151670811 G A rs781320285 AKAP12 Nonsynonymous SNV E324K 0 0 0.007 0 0 0 0 2 0 0 0 0 20.1 282339 chr20 31598908 31598908 C T rs34128772 BPIFB2 Nonsynonymous SNV A63V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.738 282340 chr20 31604859 31604859 C T rs35193091 BPIFB2 Synonymous SNV S176S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.696 282341 chr20 33839785 33839785 T C MMP24 Nonsynonymous SNV L158P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 282342 chr21 27121389 27121389 G A GABPA Nonsynonymous SNV D89N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 282343 chr20 31767425 31767425 C T rs6120140 BPIFA2 Nonsynonymous SNV R221C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.4 282344 chr20 31825550 31825550 C T rs6120177 BPIFA1 Synonymous SNV Y11Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.745 282345 chr6 15524800 15524800 C A rs140131174 DTNBP1 Synonymous SNV L221L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.73 282346 chr20 33581205 33581205 G A rs199627813 MYH7B Synonymous SNV L834L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.092 282347 chr20 34117050 34117050 G A rs199813376 C20orf173 Synonymous SNV S51S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.105 282348 chr20 35521384 35521384 C T rs150713148 SAMHD1 Nonsynonymous SNV R576Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.356 282349 chr20 44638710 44638710 A G rs202158739 MMP9 Nonsynonymous SNV K115R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.41 282350 chr20 43803643 43803643 G A rs771631903 PI3 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 282351 chr6 16254938 16254938 G A rs375604923 GMPR Nonsynonymous SNV R146H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 282352 chr20 44803189 44803189 G C rs769091962 CDH22 Nonsynonymous SNV L815V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 282353 chr6 170058371 170058371 C T rs750860927 WDR27 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 282354 chr20 58443930 58443930 T G rs565623864 SYCP2 Nonsynonymous SNV K1264N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.988 282355 chr6 24505165 24505165 G C rs113591366 ALDH5A1 Synonymous SNV V226V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.336 282356 chr20 60427947 60427947 C T rs921509312 CDH4 Synonymous SNV S253S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.73 282357 chr6 25138039 25138039 T C rs149636829 CMAHP 0 0 0.007 0 0 0 0 2 0 0 0 0 3.05 282358 chr20 61525848 61525848 A G rs746259421 DIDO1 Nonsynonymous SNV L830P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 282359 chr16 23713854 23713854 C T ERN2 Nonsynonymous SNV R313H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 282360 chr20 61939388 61939388 C G rs759945761 COL20A1 Nonsynonymous SNV Q241E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 282361 chr20 62192217 62192217 C G rs749181945 HELZ2 Synonymous SNV L1835L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.752 282362 chr6 29893659 29893677 CGAGCTCCCTCTCTGGCAT - HCG4B 0 0 0.007 0 0 0 0 2 0 0 1 0 282363 chr20 62839332 62839332 - GAGGAG rs777100376 MYT1 E273_D274insEE 0.002 0 0 0 2 0 0 0 0 0 0 0 282364 chr20 62325738 62325738 G C rs201351158 RTEL1 Synonymous SNV P779P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.189 282365 chr6 34827168 34827168 A G rs200499021 UHRF1BP1 Nonsynonymous SNV K1012R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.01 282366 chr7 127240413 127240413 A G FSCN3 Nonsynonymous SNV D486G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 282367 chr7 12397139 12397139 T A VWDE Nonsynonymous SNV N978Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 282368 chr7 12409803 12409803 T C rs867422889 VWDE Nonsynonymous SNV N595S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 282369 chr21 30409731 30409731 G A rs199586396 USP16 Nonsynonymous SNV V194M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 282370 chr21 34882145 34882145 A G GART Synonymous SNV N799N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 282371 chr6 42902246 42902246 C T CNPY3 Nonsynonymous SNV A62V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 282372 chr21 43531547 43531547 A G UMODL1 Nonsynonymous SNV K667E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.277 282373 chr16 71885052 71885052 T C ATXN1L Nonsynonymous SNV M470T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 282374 chr21 44492239 44492239 T C rs763151207 CBS, CBSL Nonsynonymous SNV H22R 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 0.002 282375 chr21 45535219 45535219 A G rs557950015 LOC102724159, PWP2 Nonsynonymous SNV Y182C 0 0.005 0 0 0 2 0 0 0 0 0 0 24.6 282376 chr21 46077978 46077978 G A rs782814531 KRTAP12-3 Nonsynonymous SNV V28M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 282377 chr21 46875615 46875615 A G rs200354859 COL18A1 Synonymous SNV T57T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 282378 chr21 47703567 47703567 G A rs148752994 MCM3AP Nonsynonymous SNV R469C 0 0.005 0 0 0 2 0 0 0 0 0 0 26.7 282379 chr7 151082245 151082245 G A rs757531707 WDR86 Nonsynonymous SNV T136I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 282380 chr6 80223411 80223411 G A rs781035395 LCA5 Stop gain R80X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 35 282381 chr6 90642321 90642321 C T rs768610688 BACH2 Nonsynonymous SNV G778R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 282382 chr22 22842787 22842787 C T rs35870543 ZNF280B Nonsynonymous SNV V313M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.4 282383 chr22 24515373 24515373 G A rs540527457 CABIN1 Nonsynonymous SNV R1397Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.07 282384 chr22 24563107 24563107 G A rs373802631 CABIN1 Synonymous SNV P1786P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.301 282385 chr22 24951649 24951649 C T rs929775218 GUCD1 Nonsynonymous SNV A49T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.631 282386 chr22 30742364 30742364 G A rs139459199 SF3A1 Synonymous SNV S110S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 282387 chr22 30769377 30769377 C T rs535331065 KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 6.462 282388 chr16 8829621 8829621 C T rs201701679 ABAT Nonsynonymous SNV R9C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 23.1 282389 chr22 31536217 31536217 G A rs745327229 PLA2G3 Synonymous SNV L42L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.372 282390 chr22 32000898 32000898 C A rs201405922 SFI1 Nonsynonymous SNV A619D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 282391 chr22 35808554 35808554 G A rs757968764 MCM5 Nonsynonymous SNV R324H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 282392 chr7 102614011 102614019 GTGTTGTCT - rs768133436 NFE4 V4_C6del 0 0 0.007 0 0 0 0 2 0 0 0 0 282393 chr19 57133043 57133043 T C rs142626174 ZNF71 Nonsynonymous SNV Y130H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 282394 chr16 14755781 14755781 A G rs146402847 BFAR Synonymous SNV L147L 0 0 0 2 0 0 0.005 0 0 0 0 0 4.496 282395 chr7 105105784 105105784 C T rs766392729 PUS7 Nonsynonymous SNV D541N 0 0 0.007 0 0 0 0 2 0 0 0 0 29.5 282396 chr7 106685427 106685427 C A rs75727925 PRKAR2B Synonymous SNV P25P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 282397 chr7 107408037 107408037 T C rs35342296 SLC26A3 Nonsynonymous SNV N753S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.01 282398 chr22 38220797 38220798 GT - rs780440583 GALR3 V143Gfs*197 0 0.003 0 0 0 1 0 0 0 0 0 0 282399 chr22 38321965 38321965 G C rs745493300 MICALL1 Synonymous SNV L460L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.868 282400 chr22 39138464 39138464 G A rs199636823 SUN2 Nonsynonymous SNV R325W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27 282401 chr17 4575386 4575386 G C rs760263648 PELP1 Nonsynonymous SNV T967R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.37 282402 chr22 39826177 39826177 C T rs747562603 TAB1 Nonsynonymous SNV R489C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 282403 chr22 39911323 39911323 C G MIEF1 Stop gain S461X 0 0.003 0 0 0 1 0 0 0 0 0 0 5.313 282404 chr22 40800282 40800282 G A rs141833078 SGSM3 Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.791 282405 chr7 48522761 48522761 G A rs764274935 ABCA13 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 282406 chr2 138762705 138762705 C T rs780125594 HNMT Synonymous SNV L145L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 282407 chr22 45283923 45283923 C T rs750532972 PHF21B Nonsynonymous SNV A319T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 282408 chr2 144194545 144194545 A G rs375998378 ARHGAP15 Nonsynonymous SNV T213A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.981 282409 chr7 590195 590195 C T rs370144226 PRKAR1B Nonsynonymous SNV V340M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 282410 chr2 149447902 149447902 A G rs375796049 EPC2 Synonymous SNV K91K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.67 282411 chr22 50926732 50926732 C T rs762726859 MIOX Synonymous SNV H123H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.52 282412 chr7 138555952 138555952 C T rs750321409 KIAA1549 Nonsynonymous SNV R1501H 0 0 0.007 0 0 0 0 2 0 0 0 0 8.075 282413 chr7 139167967 139167967 G T KLRG2 Nonsynonymous SNV T141K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 282414 chr17 8379265 8379265 G A rs199834633 MYH10 Nonsynonymous SNV R1930W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 282415 chr2 166892672 166892672 G A SCN1A Synonymous SNV F1105F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.18 282416 chr7 142760127 142760127 C T rs779506814 OR6W1P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.871 282417 chr22 50962614 50962614 A T SCO2 Nonsynonymous SNV L76Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 282418 chr7 149129515 149129515 C A rs773702921 ZNF777 Synonymous SNV A616A 0 0 0.007 0 0 0 0 2 0 0 0 0 17.1 282419 chr7 149514799 149514799 G A rs368156565 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 4.864 282420 chrX 41333304 41333304 A T NYX Nonsynonymous SNV S200C 0 0.005 0.003 0 0 2 0 1 0 1 0 0 23.6 282421 chr20 17462413 17462413 C A PCSK2 Nonsynonymous SNV R504S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282422 chr17 18088127 18088127 C T rs534578100 ALKBH5 Synonymous SNV A190A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.01 282423 chr7 154684127 154684127 A C rs753839567 DPP6 Nonsynonymous SNV E738D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.877 282424 chr2 179320877 179320877 G A rs760036509 PJVK Nonsynonymous SNV R183Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.4 282425 chr2 179473365 179473365 A G rs760430370 TTN Nonsynonymous SNV V8393A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.32 282426 chrX 106845230 106845230 C T rs370214613 FRMPD3 Nonsynonymous SNV R1354W 0 0.005 0 0 0 2 0 0 0 1 0 0 16.83 282427 chr17 25909823 25909823 C T rs774110490 KSR1 Synonymous SNV G224G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.556 282428 chrX 99946207 99946207 C T rs751376884 SYTL4 0.002 0 0 0 2 0 0 0 1 0 0 0 24.7 282429 chr8 124658045 124658045 C T rs144109404 KLHL38 Synonymous SNV P560P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.379 282430 chrX 135572549 135572549 C A BRS3 Nonsynonymous SNV S231Y 0 0.005 0 0 0 2 0 0 0 1 0 0 24.1 282431 chrX 108719057 108719057 A T rs754988699 GUCY2F Nonsynonymous SNV C37S 0.002 0 0 0 2 0 0 0 1 0 0 0 4.814 282432 chr7 27228860 27228860 T C HOXA11-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 5.278 282433 chr7 34867138 34867138 C T rs759065076 NPSR1 Nonsynonymous SNV P136S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 282434 chr1 978668 978668 G A rs147346337 AGRN Synonymous SNV T478T 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 Benign 6.151 282435 chr2 202000990 202000992 TTC - rs780335564 CFLAR L199del 0 0.003 0 0 0 1 0 0 0 0 0 0 282436 chr7 40027387 40027387 C T rs137937704 CDK13 Synonymous SNV A467A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 15.7 282437 chr2 203164972 203164972 C T rs138554847 NOP58 Synonymous SNV Y428Y 0 0.003 0 2 0 1 0.005 0 0 0 0 0 10.07 282438 chr2 203764326 203764326 T C rs751438871 WDR12 Nonsynonymous SNV Y89C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 282439 chr2 203972820 203972820 G T rs151000588 NBEAL1 Nonsynonymous SNV A591S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.2 282440 chr7 44114091 44114091 G T POLM Nonsynonymous SNV A246E 0 0 0.007 0 0 0 0 2 0 0 0 0 10.78 282441 chr1 2340118 2340118 G A rs61750434 PEX10 Stop gain R125X 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 28.9 282442 chr1 1391238 1391238 T C rs766471925 ATAD3C Nonsynonymous SNV L169P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.863 282443 chr1 1961516 1961516 G A rs753657631 GABRD Nonsynonymous SNV G385E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 8.854 282444 chr7 4856978 4856978 C T rs532481685 RADIL Synonymous SNV S540S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.699 282445 chr1 6170045 6170045 C T CHD5 Synonymous SNV L1796L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 282446 chr2 217498483 217498483 C G rs775980425 IGFBP2 Synonymous SNV V79V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 282447 chr1 10705008 10705008 T G CASZ1 Nonsynonymous SNV K1278N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 282448 chr7 56147411 56147411 G T rs200000444 SUMF2 Nonsynonymous SNV K289N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.078 282449 chr1 7880251 7880251 G C rs144941346 PER3 Nonsynonymous SNV E579Q 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 282450 chr1 8924042 8924042 T G rs140674283 ENO1 Synonymous SNV P232P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.32 282451 chr1 9009467 9009467 A G rs769040688 CA6 Synonymous SNV A75A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.946 282452 chr1 13910429 13910429 C G rs370833657 PDPN Synonymous SNV R43R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 282453 chr1 17296811 17296811 G C rs572688461 CROCC Nonsynonymous SNV E1839Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.1 282454 chr1 12837308 12837308 T A rs201834787 PRAMEF12 Nonsynonymous SNV S340T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.533 282455 chr1 12837311 12837311 G A rs199576535 PRAMEF12 Nonsynonymous SNV V341I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 282456 chr1 12837316 12837316 G T rs201412674 PRAMEF12 Synonymous SNV L342L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.227 282457 chr1 12837317 12837317 C T rs199928324 PRAMEF12 Synonymous SNV L343L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.4 282458 chr1 12837319 12837319 G A rs267597969 PRAMEF12 Synonymous SNV L343L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.426 282459 chr1 12837331 12837331 G T rs200315960 PRAMEF12 Nonsynonymous SNV E347D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 282460 chr1 17555239 17555239 G A rs780478966 PADI1 Nonsynonymous SNV D258N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 282461 chr1 15987007 15987007 C T rs1040707871 RSC1A1 Nonsynonymous SNV T215M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.689 282462 chr8 27278261 27278261 G A rs751862056 PTK2B Synonymous SNV Q157Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 282463 chr8 10396207 10396207 C G PRSS55 Synonymous SNV G321G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.472 282464 chr8 10465397 10465397 C A RP1L1 Nonsynonymous SNV V2071F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 282465 chr8 10470721 10470721 G A rs201669521 RP1L1 Nonsynonymous SNV T296M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 282466 chr1 24485652 24485652 C T rs778583027 IFNLR1 Nonsynonymous SNV V231M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 12.4 282467 chr1 22190704 22190704 G A HSPG2 Synonymous SNV D1544D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.218 282468 chr8 75757618 75757618 T C rs144157830 PI15 Nonsynonymous SNV M176T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 282469 chr8 134474133 134474133 C T rs774248995 ST3GAL1 Nonsynonymous SNV M278I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 282470 chr1 37325609 37325609 C T rs116738895 GRIK3 Nonsynonymous SNV A266T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.56 282471 chr1 39775930 39775930 C T rs762693468 MACF1 Nonsynonymous SNV A982V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 282472 chr1 40148375 40148375 T C rs772449540 HPCAL4 Nonsynonymous SNV M65V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 282473 chr1 41481710 41481710 A G SLFNL1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.326 282474 chr8 144398249 144398249 G A rs776130476 TOP1MT Stop gain R362X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 282475 chr1 34238173 34238173 C A rs200557124 CSMD2 Nonsynonymous SNV V615L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 282476 chr22 24447389 24447389 G A rs370761584 CABIN1 Synonymous SNV R253R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 282477 chr1 36039677 36039677 C T rs886720019 TFAP2E Synonymous SNV Y59Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.914 282478 chr1 42628591 42628591 A T rs142157365 GUCA2A Nonsynonymous SNV C112S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 282479 chr1 43773476 43773476 C G TIE1 Nonsynonymous SNV P263R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 282480 chr17 76498808 76498808 C T rs772551942 DNAH17-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.26 282481 chr8 144993062 144993062 C T rs372569386 PLEC Nonsynonymous SNV V3629M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 282482 chr8 145095490 145095490 C G rs782773259 SPATC1 Nonsynonymous SNV P263R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 282483 chr8 145666214 145666214 G A rs753001104 TONSL Nonsynonymous SNV R351W 0 0 0.007 0 0 0 0 2 0 0 0 0 26.6 282484 chr17 79164853 79164853 C T rs146524383 CEP131 Nonsynonymous SNV E897K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 282485 chr1 46120475 46120475 G A rs781335995 GPBP1L1 Nonsynonymous SNV R73C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 282486 chr1 46211847 46211847 C T rs996442292 IPP Synonymous SNV P79P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 282487 chr8 146220788 146220790 GAG - rs376800385 TMED10P1 0 0 0.007 0 0 0 0 2 0 0 0 0 282488 chr1 47110862 47110862 G A rs146838484 ATPAF1 Nonsynonymous SNV L131F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 282489 chr2 70408821 70408821 G T C2orf42 Synonymous SNV I99I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.885 282490 chr22 32889178 32889178 G A rs762037477 FBXO7 Nonsynonymous SNV V273I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.55 282491 chr8 17942387 17942387 G C rs1018106871 LOC101929066 0 0 0.003 0 0 0 0 1 0 0 0 0 3.816 282492 chr17 80789537 80789537 G A ZNF750 Nonsynonymous SNV S265L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 282493 chr1 54691041 54691041 C T rs1031821496 MRPL37 Nonsynonymous SNV P480S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 282494 chr9 124089760 124089760 G T rs757684181 GSN Nonsynonymous SNV D639Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282495 chr1 64624783 64624783 C G rs775112425 ROR1 Nonsynonymous SNV Q432E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.79 282496 chr17 26959146 26959146 T C rs144880059 KIAA0100 Nonsynonymous SNV N1163S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 282497 chr1 67142780 67142780 G T SGIP1 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 282498 chr2 88874415 88874415 A C rs780380140 EIF2AK3 Synonymous SNV T711T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 282499 chr1 74671187 74671187 G C rs896100394 FPGT Nonsynonymous SNV D499H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 282500 chr2 97526946 97526946 C G SEMA4C Nonsynonymous SNV G640A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.131 282501 chr1 76228447 76228447 A T rs200376609 ACADM X233L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.1 282502 chr8 39678649 39678649 G T rs765710108 ADAM2 Nonsynonymous SNV P129T 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 282503 chr1 79102727 79102727 G A rs61729831 IFI44L Nonsynonymous SNV R296H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.123 282504 chr1 79107287 79107287 G A rs34615115 IFI44L Synonymous SNV E439E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.908 282505 chr1 86921029 86921029 C T rs781089415 CLCA2 Nonsynonymous SNV A884V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.28 282506 chr9 130928639 130928639 C A rs1025173521 CIZ1 Nonsynonymous SNV S744I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 282507 chr8 68151068 68151068 C T rs774607442 ARFGEF1 Nonsynonymous SNV G1014S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 282508 chr1 91818617 91818617 G A HFM1 Nonsynonymous SNV P608S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 282509 chr8 77617799 77617799 C T rs771878230 ZFHX4 Synonymous SNV T492T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 282510 chr1 97771841 97771841 C A rs202212118 DPYD Nonsynonymous SNV V691L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.3 282511 chr1 100342125 100342125 T G rs768623422 AGL Nonsynonymous SNV D465E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 282512 chr17 39156026 39156026 C T rs144304277 KRTAP3-2 Nonsynonymous SNV R27H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 282513 chr8 99560348 99560348 A G rs367659493 STK3 Synonymous SNV S219S 0 0 0.007 0 0 0 0 2 0 0 0 0 1.545 282514 chr9 107594088 107594088 T C rs34590907 ABCA1 Synonymous SNV L510L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 3.825 282515 chrX 48759552 48759552 G A PQBP1 Nonsynonymous SNV R112K 0.002 0 0 0 2 0 0 0 1 0 0 0 3.89 282516 chr9 140330491 140330491 G A rs376817091 ENTPD8 Stop gain Q342X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 282517 chr1 120466420 120466420 G A rs552225415 NOTCH2 Nonsynonymous SNV R1567W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 282518 chr1 144921964 144921964 T - PDE4DIP Q519Rfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 282519 chr1 144931666 144931666 T C rs782222112 PDE4DIP Nonsynonymous SNV N15D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 282520 chr1 150526216 150526216 G A rs145673891 ADAMTSL4 Nonsynonymous SNV R250Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.032 282521 chr1 149916702 149916702 C T OTUD7B Nonsynonymous SNV G529D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 282522 chr1 150529700 150529700 G A rs765795619 ADAMTSL4 Nonsynonymous SNV V646M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 282523 chr9 125748529 125748529 G A rs886783552 RABGAP1 Nonsynonymous SNV D141N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 282524 chr9 26920357 26920357 T G PLAA Synonymous SNV L355L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 282525 chr1 151546758 151546758 C T rs370920800 TUFT1 Nonsynonymous SNV R178W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 282526 chr1 152883157 152883157 A G rs918433151 IVL Nonsynonymous SNV H295R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 282527 chr1 154991197 154991197 G A rs770679392 DCST2 Synonymous SNV H715H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.485 282528 chr19 3492302 3492302 G A DOHH Nonsynonymous SNV R183C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 282529 chr19 3594840 3594840 C G rs201087249 TBXA2R Nonsynonymous SNV K406N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.4 282530 chr1 156503876 156503876 G A rs34620734 IQGAP3 Synonymous SNV D1266D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.61 282531 chr1 21050683 21050683 G A SH2D5 Nonsynonymous SNV S147L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282532 chr9 133780675 133780675 C G FIBCD1 Nonsynonymous SNV D358H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 282533 chr1 157494180 157494180 C T FCRL5 Nonsynonymous SNV G710R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 282534 chr10 30318539 30318539 T C JCAD Nonsynonymous SNV K180E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 282535 chr10 30629225 30629225 C T rs138262385 MTPAP Nonsynonymous SNV R162H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.624 282536 chr1 160801180 160801180 C T rs201774367 CD244 Nonsynonymous SNV R260Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.6 282537 chr1 161197474 161197474 G A rs140603657 TOMM40L Nonsynonymous SNV A109T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 282538 chr1 27220752 27220752 G C rs756009262 GPATCH3 Synonymous SNV A342A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.146 282539 chr10 120801598 120801598 T C rs757801252 EIF3A Nonsynonymous SNV D1145G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 282540 chr10 120802274 120802274 G A rs780944947 EIF3A Nonsynonymous SNV R920C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 282541 chr1 165513899 165513899 G C rs143080110 LRRC52 Synonymous SNV S122S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.784 282542 chr1 169500055 169500055 C G F5 Nonsynonymous SNV R1726P 0.001 0 0 0 1 0 0 0 0 0 0 0 35 282543 chr1 169764267 169764267 A G rs775295471 C1orf112 Synonymous SNV P8P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.363 282544 chr1 170115299 170115299 C T rs267598163 METTL11B Synonymous SNV T17T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.79 282545 chr9 17235723 17235723 A G CNTLN Nonsynonymous SNV N201S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.81 282546 chr1 173010617 173010617 A G rs772981007 TNFSF18 Synonymous SNV L164L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.739 282547 chr1 177001900 177001900 A G rs762840335 ASTN1 Nonsynonymous SNV V186A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 282548 chr1 39823098 39823098 C A MACF1 Nonsynonymous SNV Q1764K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 282549 chrX 12734468 12734468 A G rs981432086 FRMPD4 Synonymous SNV L590L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.368 282550 chrX 132351861 132351861 C T rs199687528 TFDP3 Nonsynonymous SNV A143T 0.002 0 0 3 2 0 0.008 0 0 0 0 1 14.88 282551 chrX 149938822 149938822 C T rs782177062 CD99L2 Nonsynonymous SNV V153M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 282552 chr9 35043494 35043494 C A rs759354166 C9orf131 Nonsynonymous SNV P255T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 282553 chr1 193053749 193053749 C T rs761046843 RO60 Nonsynonymous SNV T227I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 282554 chr1 182783983 182783983 A G rs2275172 NPL Synonymous SNV P99P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.94 282555 chr1 183090920 183090920 A G rs148690613 LAMC1 Nonsynonymous SNV T685A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.908 282556 chr10 74114576 74114576 G C DNAJB12 Nonsynonymous SNV A27G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 282557 chr1 47283814 47283814 T C rs74072926 CYP4B1 Synonymous SNV S265S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 282558 chr1 200569609 200569609 C T rs753027652 KIF14 Synonymous SNV K234K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 282559 chr1 53972405 53972405 G A GLIS1 Stop gain Q584X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 36 282560 chr10 21120137 21120137 T A rs779426326 NEBL Nonsynonymous SNV E553D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 282561 chrX 49126392 49126392 C T PPP1R3F Synonymous SNV A20A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 282562 chr1 55590170 55590170 A G USP24 Synonymous SNV A1364A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.08 282563 chr10 31810554 31810554 A G rs376963555 ZEB1 Nonsynonymous SNV Q690R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 282564 chr1 203154393 203154393 G A CHI3L1 Nonsynonymous SNV A59V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 282565 chr9 97329603 97329603 C G rs765587674 FBP2 Nonsynonymous SNV K218N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 282566 chrX 71350269 71350271 CTT - rs772143269 RTL5 K374del 0.001 0 0 0 1 0 0 0 0 0 0 0 282567 chrX 71363181 71363181 A G NHSL2 Nonsynonymous SNV I1145M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.408 282568 chrUn_gl000220 118555 118555 G T RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 282569 chrUn_gl000220 122122 122122 C G LOC100507412 0 0 0.007 0 0 0 0 2 0 0 0 0 282570 chrX 10180668 10180668 A C rs757820245 CLCN4 Synonymous SNV A423A 0 0 0.01 0 0 0 0 3 0 0 1 0 Likely benign 0.085 282571 chr10 101503802 101503802 C T rs753780691 CUTC Nonsynonymous SNV R138C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 282572 chr1 213037096 213037096 A G rs774690148 FLVCR1 Synonymous SNV P256P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.07 282573 chrX 153036225 153036225 G A rs150768754 PLXNB3 Nonsynonymous SNV V675M 0 0 0.01 0 0 0 0 3 0 0 1 0 4.151 282574 chrX 153247849 153247849 G A rs145557117 TMEM187 Synonymous SNV A112A 0 0 0.01 0 0 0 0 3 0 0 1 0 5.914 282575 chr10 115374690 115374690 A G rs756628449 NRAP Nonsynonymous SNV S996P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 282576 chr3 50392899 50392899 C T TMEM115 Nonsynonymous SNV E311K 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 282577 chr10 120883007 120883007 G A rs761503064 DENND10 Nonsynonymous SNV R56Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 282578 chrX 39933860 39933860 G A rs139023119 BCOR Synonymous SNV L247L 0.001 0 0.01 0 1 0 0 3 0 0 1 0 0.787 282579 chrX 44091782 44091782 C T rs772087258 EFHC2 Nonsynonymous SNV R522H 0 0 0.01 0 0 0 0 3 0 0 1 0 9.47 282580 chr1 226566959 226566959 C T rs116547814 PARP1 Synonymous SNV A543A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.74 282581 chrX 48564936 48564936 C T rs782132107 SUV39H1 Synonymous SNV D352D 0 0 0.01 0 0 0 0 3 0 0 1 0 10.73 282582 chrX 55650246 55650246 T C FOXR2 Synonymous SNV C34C 0 0 0.01 0 0 0 0 3 0 0 1 0 0.004 282583 chr10 70405851 70405851 C T TET1 Nonsynonymous SNV T1122I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 282584 chr3 57898904 57898904 A G SLMAP Synonymous SNV R131R 0 0.005 0 0 0 2 0 0 0 0 0 0 1.806 282585 chr3 58517084 58517084 A G rs114465932 ACOX2 Nonsynonymous SNV I238T 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 22 282586 chrX 71427063 71427063 T G ERCC6L Nonsynonymous SNV K518N 0 0 0.01 0 0 0 0 3 0 0 1 0 22.3 282587 chr1 233160950 233160950 G A rs193181260 PCNX2 Nonsynonymous SNV A1516V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 282588 chr1 234565893 234565893 G A rs201549800 TARBP1 Nonsynonymous SNV T850M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 282589 chrY 16952571 16952571 G C rs771612829 NLGN4Y Nonsynonymous SNV R459P 0 0 0.007 0 0 0 0 2 0 0 1 0 23 282590 chr3 9100070 9100070 G A rs748814269 SRGAP3 Synonymous SNV H296H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.184 282591 chr1 228559112 228559112 C T rs749323950 OBSCN Nonsynonymous SNV A6878V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 282592 chr1 230916332 230916332 A G CAPN9 Synonymous SNV R390R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.182 282593 chr1 117127446 117127446 C T rs770408845 IGSF3 Nonsynonymous SNV R890Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 282594 chr10 105361799 105361799 C T rs749914163 SH3PXD2A Nonsynonymous SNV R940H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 282595 chr1 236175341 236175341 C T NID1 Nonsynonymous SNV V803I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.96 282596 chr1 246810837 246810837 C T CNST Nonsynonymous SNV A445V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.531 282597 chr19 38126077 38126077 T C rs200760945 ZFP30 Synonymous SNV Q455Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.094 282598 chr11 118917355 118917355 T C rs140010748 HYOU1 Nonsynonymous SNV K919E 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 282599 chr10 23482234 23482234 C T PTF1A Nonsynonymous SNV R259W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 282600 chr1 152733582 152733582 A G rs780591850 KPRP Synonymous SNV P506P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.209 282601 chr1 152882541 152882541 C T rs149812110 IVL Stop gain Q90X 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 282602 chr10 126519951 126519951 G A rs369077371 ABRAXAS2 Nonsynonymous SNV V233I 0 0 0.007 0 0 0 0 2 0 0 0 0 21 282603 chr1 155005184 155005184 C T rs777405648 DCST2 Nonsynonymous SNV R167H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 282604 chr10 126694216 126694222 GGAACCC - rs780938244 CTBP2 G53Rfs*14 0 0 0.007 0 0 0 0 2 0 0 0 0 282605 chr1 155033963 155033963 C T rs779361921 ADAM15 Stop gain Q784X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 282606 chr10 12867693 12867693 C T rs373315791 CAMK1D Nonsynonymous SNV A348V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 282607 chr19 41778104 41778104 G A rs140550135 HNRNPUL1 Nonsynonymous SNV R90Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 282608 chr10 45499018 45499018 T G ZNF22 Nonsynonymous SNV S68A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 282609 chr2 26676288 26676288 A G rs747479532 DRC1 Nonsynonymous SNV E597G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 282610 chr2 26997998 26997998 C T rs781640338 SLC35F6 Synonymous SNV S79S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 282611 chr2 17927105 17927105 C G rs780655177 SMC6 Nonsynonymous SNV G37R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.97 282612 chr4 1701386 1701386 A C SLBP Nonsynonymous SNV F93L 0 0.005 0 0 0 2 0 0 0 0 0 0 3.124 282613 chr11 107502327 107502327 G A ELMOD1 Nonsynonymous SNV V72I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.97 282614 chr11 1974070 1974070 C T rs530962377 MRPL23 Synonymous SNV V94V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 20.8 282615 chr10 3143705 3143705 G A rs138856118 PFKP Nonsynonymous SNV R111Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 282616 chr2 26760625 26760625 G A rs150867836 OTOF Nonsynonymous SNV R33W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 282617 chr11 20696054 20696054 C T rs147649739 NELL1 Synonymous SNV P25P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.573 282618 chr10 43619248 43619248 C T rs375414982 RET Synonymous SNV S723S 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 17.07 282619 chr2 37459388 37459388 G C rs201231332 NDUFAF7 Nonsynonymous SNV E65D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 282620 chr10 73047431 73047431 C A UNC5B Synonymous SNV T270T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 282621 chr2 44050052 44050052 G A rs139361486 ABCG5 Synonymous SNV S449S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.58 282622 chr1 180775672 180775672 C T rs372716949 XPR1 Synonymous SNV V220V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 282623 chr4 187540972 187540972 T G FAT1 Synonymous SNV A2256A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 282624 chr11 117302403 117302403 G A rs768585537 DSCAML1 Nonsynonymous SNV R1741W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 282625 chr10 75394301 75394301 G A rs376277217 MYOZ1 Nonsynonymous SNV A148V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 282626 chr2 55176032 55176032 C A EML6 Synonymous SNV R1340R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 282627 chr11 118771706 118771706 C T BCL9L Nonsynonymous SNV D916N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 282628 chr2 61304229 61304229 C G KIAA1841 Nonsynonymous SNV N56K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 282629 chr10 5791495 5791495 C G rs201588583 TASOR2 Nonsynonymous SNV S1956R 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 282630 chr10 85904674 85904674 A G rs779554941 GHITM Nonsynonymous SNV M129V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 282631 chr10 5945022 5945022 G A FBH1 Nonsynonymous SNV C14Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 282632 chr2 68607978 68607978 A C rs34515106 PLEK Nonsynonymous SNV K108Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 282633 chr10 6369935 6369935 A G rs748360229 LINC02649 0 0 0.01 0 0 0 0 3 0 0 0 0 3.435 282634 chr4 41984874 41984874 G A rs201306900 DCAF4L1 Synonymous SNV P355P 0 0.005 0 0 0 2 0 0 0 0 0 0 8.263 282635 chr10 91503578 91503578 G A rs144377752 KIF20B Nonsynonymous SNV R1310H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 282636 chr2 71709044 71709044 C T rs772399155 DYSF Synonymous SNV D61D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 282637 chr10 74684113 74684113 C T rs370448182 OIT3 Nonsynonymous SNV R360C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 282638 chr10 97423966 97423966 T C TCTN3 Nonsynonymous SNV K413R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 282639 chr10 74992853 74992853 G C rs951645895 FAM149B1 Synonymous SNV P428P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.583 282640 chr10 75397587 75397587 C G rs200945452 MYOZ1 Nonsynonymous SNV G56A 0 0 0.007 0 0 0 0 2 0 0 0 0 28.2 282641 chr10 7791171 7791171 A G rs767274386 ITIH2 Synonymous SNV R905R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.06 282642 chr19 7677179 7677179 G A CAMSAP3 Nonsynonymous SNV M600I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.4 282643 chr11 129780428 129780428 - CTGCTGCTG rs113169112 PRDM10 Q902_N903insQQQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 282644 chr11 129784859 129784859 T C PRDM10 Nonsynonymous SNV N775D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.6 282645 chr2 103148833 103148833 G A rs769508547 SLC9A4 Nonsynonymous SNV A695T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 282646 chr1 222801952 222801952 A G rs746689324 MIA3 Nonsynonymous SNV I464V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 282647 chr2 95954266 95954266 C A rs147967943 PROM2 Nonsynonymous SNV F790L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 282648 chr2 127808797 127808797 G A rs751051376 BIN1 Nonsynonymous SNV A311V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 282649 chr10 99995224 99995224 G A rs762981081 R3HCC1L Nonsynonymous SNV R692H 0 0 0.007 0 0 0 0 2 0 0 0 0 32 282650 chr11 102195699 102195699 T C rs138773847 BIRC3 Synonymous SNV D153D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 282651 chr2 128918102 128918102 C T rs780531256 UGGT1 Synonymous SNV A877A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 282652 chr4 79351570 79351570 A G FRAS1 Synonymous SNV T1656T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 8.36 282653 chr2 105885770 105885770 C T TGFBRAP1 Nonsynonymous SNV G789S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 282654 chr2 133489441 133489441 C T rs746168519 NCKAP5 Nonsynonymous SNV R452H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 282655 chr2 109086170 109086170 A G rs776808644 GCC2 Nonsynonymous SNV K129E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 282656 chr2 112922677 112922677 G A rs201640936 FBLN7 Nonsynonymous SNV R112Q 0 0.005 0 0 0 2 0 0 0 0 0 0 15.36 282657 chr19 56125581 56125581 G A ZNF865 Synonymous SNV A199A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.136 282658 chr2 119739941 119739941 G T rs202171758 MARCO Nonsynonymous SNV G340W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 282659 chr19 56466884 56466884 T A rs755489007 NLRP8 Nonsynonymous SNV F487Y 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 282660 chr11 1018569 1018569 G A rs368570174 MUC6 Nonsynonymous SNV T1411M 0 0 0.007 0 0 0 0 2 0 0 0 0 10.12 282661 chr2 122485991 122485991 A G rs370723671 NIFK-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.247 282662 chr2 128938531 128938531 G C UGGT1 Nonsynonymous SNV R1323P 0 0.003 0 0 0 1 0 0 0 0 0 0 34 282663 chr4 906559 906559 T C rs752034665 GAK Synonymous SNV E77E 0 0.005 0.003 0 0 2 0 1 0 0 0 0 1.505 282664 chr11 34137386 34137386 A G NAT10 Nonsynonymous SNV Y99C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 282665 chr11 108127004 108127004 C T rs373430058 ATM Synonymous SNV Y729Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 10.98 282666 chr2 166786229 166786229 C T rs771405314 TTC21B Synonymous SNV G372G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.76 282667 chr11 1097856 1097856 G A rs750002035 MUC2 Nonsynonymous SNV G2317S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.726 282668 chr2 168114652 168114652 G A rs778394023 XIRP2 Synonymous SNV R310R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 282669 chr2 152553896 152553896 G A rs771832822 NEB Nonsynonymous SNV H445Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.4 282670 chr11 114027083 114027083 G C rs375573362 ZBTB16 Synonymous SNV T431T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 282671 chr5 112770366 112770366 A T rs748723080 TSSK1B Synonymous SNV L57L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 282672 chr11 118373466 118373468 TCA - rs782200648 KMT2A S2289del 0 0 0.007 0 0 0 0 2 0 0 0 0 282673 chr11 118498931 118498931 G A rs782766822 PHLDB1 Synonymous SNV L464L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.136 282674 chr5 125944142 125944142 C T rs147045926 PHAX Nonsynonymous SNV A266V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 282675 chr11 123485477 123485477 C T rs370988688 GRAMD1B Nonsynonymous SNV P568L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 282676 chr2 166802144 166802144 C T TTC21B Nonsynonymous SNV G107R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 282677 chr2 179481354 179481354 C T rs72677238 TTN Nonsynonymous SNV R6990H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.4 282678 chr11 119206312 119206312 G A rs150064320 RNF26 Synonymous SNV Q160Q 0 0 0.007 0 0 0 0 2 0 0 0 0 4.673 282679 chr11 119207024 119207024 C T rs61760890 RNF26 Synonymous SNV L398L 0 0 0.007 0 0 0 0 2 0 0 0 0 13.15 282680 chr20 2776527 2776527 G A rs41309351 CPXM1 Nonsynonymous SNV R480W 0 0 0 1 0 0 0.003 0 0 0 0 0 15.41 282681 chr2 183847563 183847563 G A rs376444283 NCKAP1 Synonymous SNV D398D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 282682 chr11 48346644 48346644 T C OR4C3 Nonsynonymous SNV V24A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.973 282683 chr11 124440418 124440420 ATT - OR8A1 I135del 0.001 0 0 0 1 0 0 0 0 0 0 0 282684 chr11 124626589 124626589 A G rs773341954 ESAM Nonsynonymous SNV L100S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 282685 chr2 179403853 179403853 T C rs200544701 TTN Nonsynonymous SNV K23872E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.21 282686 chr2 179418423 179418423 A G rs755018367 TTN Nonsynonymous SNV V20705A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.42 282687 chr2 179434186 179434186 T A rs201095164 TTN Nonsynonymous SNV D16493V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.42 282688 chr11 128359270 128359270 G A rs549425510 ETS1 Synonymous SNV C106C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 282689 chr11 128842427 128842427 G T rs143844266 ARHGAP32 Nonsynonymous SNV S962Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 282690 chr20 18491626 18491626 A G SEC23B Synonymous SNV P49P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.068 282691 chr2 179636081 179636081 T C TTN Nonsynonymous SNV H2612R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.344 282692 chr11 15260593 15260593 G A rs199560747 INSC Nonsynonymous SNV V414M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 282693 chr11 15263156 15263156 C T INSC Nonsynonymous SNV A505V 0 0 0.007 0 0 0 0 2 0 0 0 0 3.092 282694 chr2 186603720 186603720 C T rs771604128 FSIP2 Synonymous SNV D33D 0 0.005 0 0 0 2 0 0 0 0 0 0 7.045 282695 chr11 18313182 18313182 T C rs139004989 HPS5 Synonymous SNV V635V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.338 282696 chr11 17667311 17667311 T G rs992791249 OTOG Nonsynonymous SNV D2866E 0 0 0.007 0 0 0 0 2 0 0 0 0 25 282697 chr2 187627323 187627323 G A rs760731510 FAM171B Nonsynonymous SNV V752I 0 0.005 0 0 0 2 0 0 0 0 0 0 19.37 282698 chr20 33570359 33570359 - T rs775283745 MYH7B 0 0 0 1 0 0 0.003 0 0 0 0 0 282699 chr11 2154888 2154888 G A rs199968864 IGF2 Synonymous SNV P55P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.23 282700 chr2 197791214 197791214 A G PGAP1 Nonsynonymous SNV F43L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 282701 chr11 55761773 55761773 G A rs765749853 OR5F1 Nonsynonymous SNV T110I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.59 282702 chr1 175293570 175293570 C T rs112885396 TNR Synonymous SNV S960S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 16.19 282703 chr1 175324717 175324717 G A rs112668786 TNR Synonymous SNV A724A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12 282704 chr2 205983750 205983750 C T rs770309576 PARD3B Synonymous SNV L262L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.02 282705 chr11 33596382 33596382 C A rs146426058 KIAA1549L Synonymous SNV A1455A 0 0 0.007 0 0 0 0 2 0 0 0 0 18.12 282706 chr2 210894571 210894571 C T rs750192758 KANSL1L Nonsynonymous SNV V701I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 282707 chr2 227661451 227661451 G A rs34909077 IRS1 Synonymous SNV S668S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.486 282708 chr2 227731960 227731960 C T rs141814514 RHBDD1 Synonymous SNV N164N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.76 282709 chr2 227953432 227953432 A C rs374935235 COL4A4 Synonymous SNV P520P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.596 282710 chr11 533505 533505 A T rs766801436 HRAS Nonsynonymous SNV L133H 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 26.3 282711 chr11 58893314 58893314 G A FAM111B Nonsynonymous SNV G552S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 282712 chr11 55406233 55406233 A G rs147136011 OR4P4 Nonsynonymous SNV M134V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 282713 chr2 239007019 239007019 C T rs368077817 UBE2F-SCLY 0 0.003 0 0 0 1 0 0 0 0 0 0 5.456 282714 chr2 241465651 241465651 C T ANKMY1 Nonsynonymous SNV A300T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 282715 chr2 137814200 137814200 T C THSD7B Nonsynonymous SNV V117A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.937 282716 chr12 101504214 101504214 G T ANO4 Nonsynonymous SNV A728S 0.001 0 0 0 1 0 0 0 0 0 0 0 30 282717 chr3 21467011 21467011 G A rs143903868 ZNF385D Synonymous SNV H275H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 282718 chr21 44476203 44476203 T C rs780136163 CBSL Nonsynonymous SNV D520G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.62 282719 chr2 161052092 161052092 C T rs143559183 ITGB6 Synonymous SNV Q32Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 282720 chr3 38674755 38674755 C G rs373410109 SCN5A Nonsynonymous SNV R15T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 282721 chr11 6579913 6579913 C T rs538098763 DNHD1 Synonymous SNV P3067P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 282722 chr11 58190598 58190598 A T rs143455032 OR5B2 Nonsynonymous SNV L46Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 282723 chr11 66243363 66243363 C T PELI3 Nonsynonymous SNV P272S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 282724 chr22 17488938 17488938 A G rs201010545 GAB4 Nonsynonymous SNV S23P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.38 282725 chr11 608381 608381 C T rs372886688 PHRF1 Synonymous SNV D975D 0 0 0.007 0 0 0 0 2 0 0 0 0 8.81 282726 chr11 61571182 61571182 A G rs753680039 FADS1 Synonymous SNV L371L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.072 282727 chr3 37366883 37366883 G A rs776144663 GOLGA4 Nonsynonymous SNV R1169Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.012 282728 chr11 60264932 60264932 G A rs147360952 MS4A12 Synonymous SNV Q47Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.354 282729 chr11 73724487 73724487 C T rs953541347 C2CD3 Synonymous SNV E2335E 0.003 0 0 0 3 0 0 0 0 0 0 0 14.53 282730 chr6 10924833 10924833 A G rs772549727 SYCP2L Nonsynonymous SNV I393V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.617 282731 chr11 64084957 64084957 C G rs375653671 TRMT112 Synonymous SNV R14R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 282732 chr11 64117138 64117138 C T CCDC88B Stop gain Q954X 0 0 0.007 0 0 0 0 2 0 0 0 0 38 282733 chr11 60899453 60899453 G C rs771639980 VPS37C Nonsynonymous SNV P303A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 282734 chr3 42700650 42700650 G A rs765523875 ZBTB47 Nonsynonymous SNV R268Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.711 282735 chr11 61249891 61249891 C T rs139120355 PPP1R32 Nonsynonymous SNV P73L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 282736 chr11 64678678 64678678 C A ATG2A Nonsynonymous SNV G433V 0 0 0.007 0 0 0 0 2 0 0 0 0 27.1 282737 chr12 122691053 122691054 CT - rs778283297 B3GNT4 L62Vfs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 282738 chr11 65268973 65268973 T G MALAT1, TALAM1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.721 282739 chr3 51691624 51691624 C T RAD54L2 Synonymous SNV S1085S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 282740 chr3 44959478 44959478 C T rs376522016 ZDHHC3 Nonsynonymous SNV R300Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 282741 chr11 624851 624851 C T rs116248782 CDHR5 Nonsynonymous SNV V18I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.748 282742 chr11 63326005 63326005 G A PLAAT2 Synonymous SNV D82D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.051 282743 chr11 865565 865565 C T rs559071583 TSPAN4 Nonsynonymous SNV T128M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282744 chr11 86665881 86665881 T C FZD4 Nonsynonymous SNV T83A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 282745 chr11 67168308 67168308 C T rs11542939 PPP1CA Synonymous SNV L46L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 12.86 282746 chr11 64118670 64118670 T C CCDC88B Synonymous SNV R967R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 282747 chr3 48789705 48789705 G A rs146193506 PRKAR2A Nonsynonymous SNV R307C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 282748 chr19 53117461 53117461 C T rs77404321 ZNF83 Synonymous SNV T119T 0 0 0 2 0 0 0.005 0 0 0 0 0 11.73 282749 chr11 64673935 64673935 G A rs774523771 ATG2A Synonymous SNV A1010A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.975 282750 chr3 52395755 52395755 C T rs751312375 DNAH1 Synonymous SNV T1651T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 282751 chr3 52518539 52518539 C T rs752225112 NISCH Synonymous SNV F513F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.63 282752 chr3 52521390 52521390 C T rs759391561 NISCH Nonsynonymous SNV R628W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 282753 chr3 52521558 52521558 G A rs201343452 NISCH Nonsynonymous SNV E684K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 282754 chr11 71949091 71949091 G A rs767508503 INPPL1 Synonymous SNV P1186P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.312 282755 chr3 52945068 52945068 A C SFMBT1 Synonymous SNV V619V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.62 282756 chr11 75148074 75148074 G A rs140932082 GDPD5 Nonsynonymous SNV R388W 0 0 0.007 0 0 0 0 2 0 0 0 0 33 282757 chr11 66358992 66358992 T C CCDC87 Nonsynonymous SNV M499V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.781 282758 chr3 109023388 109023388 A G rs145792733 DPPA2 Nonsynonymous SNV L263S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 282759 chr11 76826507 76826507 G A rs201007101 CAPN5 Nonsynonymous SNV V256I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.53 282760 chr11 78177004 78177004 T C rs150355410 NARS2 Nonsynonymous SNV N134S 0.001 0 0.01 0 1 0 0 3 0 0 0 0 Likely benign 19.02 282761 chr3 58191230 58191230 G T rs12491947 DNASE1L3 Nonsynonymous SNV N96K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.631 282762 chr3 58260399 58260399 A G rs148033857 ABHD6 Nonsynonymous SNV T180A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 282763 chr11 84996317 84996317 C T rs373336609 DLG2 Nonsynonymous SNV E82K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 282764 chr11 87847206 87847206 G A rs115475721 RAB38 Nonsynonymous SNV H196Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 282765 chr11 69456169 69456169 G A rs2220247 CCND1 Nonsynonymous SNV A30T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 282766 chr11 92258043 92258043 C A rs370778887 FAT3 Nonsynonymous SNV S1179Y 0 0 0.007 0 0 0 0 2 0 0 0 0 31 282767 chr11 92624244 92624244 C T rs745509528 FAT3 Nonsynonymous SNV P4547S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 282768 chr3 122829826 122829826 G A rs779516395 PDIA5 Synonymous SNV P172P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.036 282769 chr11 73620461 73620461 A G PAAF1 Nonsynonymous SNV I185V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.824 282770 chr11 74417541 74417541 G A rs553337811 CHRDL2 Synonymous SNV L126L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.268 282771 chr12 100551027 100551027 G A GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 6.294 282772 chrX 19086897 19086897 A G rs189104619 ADGRG2 Nonsynonymous SNV L19P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.13 282773 chr3 112724565 112724565 T C rs772422050 NEPRO Nonsynonymous SNV N341D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.1 282774 chr12 122248329 122248329 A G rs190344718 SETD1B Nonsynonymous SNV E493G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 282775 chr12 103352142 103352142 C G ASCL1 Synonymous SNV A40A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.464 282776 chrX 38163959 38163959 A C RPGR Nonsynonymous SNV V288G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 282777 chr3 119422010 119422010 G A rs748598993 MAATS1 Nonsynonymous SNV R22Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.931 282778 chrX 47308837 47308837 G A rs104894955 ZNF41 Nonsynonymous SNV P25L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.36 282779 chrX 48682654 48682654 A T rs144699758 HDAC6 Nonsynonymous SNV I1177F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 282780 chrX 48934174 48934174 G A rs140596058 WDR45 Synonymous SNV I117I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.48 282781 chr11 830668 830668 G A rs750281226 CRACR2B Synonymous SNV Q247Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 282782 chrX 55033657 55033657 A G APEX2 Nonsynonymous SNV K278R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 282783 chr12 11061242 11061242 T C rs772862867 TAS2R13 Nonsynonymous SNV H219R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 282784 chr12 110897517 110897517 A G GPN3 Nonsynonymous SNV I142T 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 282785 chr12 112369540 112369540 C A rs371845657 TMEM116 Nonsynonymous SNV R265L 0 0 0.007 0 0 0 0 2 0 0 0 0 33 282786 chr11 88241957 88241957 G T rs768641894 GRM5 Nonsynonymous SNV P1116T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.949 282787 chr12 112681445 112681445 G A rs372246308 HECTD4 Synonymous SNV I1600I 0 0 0.01 0 0 0 0 3 0 0 0 0 12.01 282788 chr11 92543053 92543053 G A rs775214608 FAT3 Nonsynonymous SNV V3098M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 282789 chr12 114392946 114392946 T C rs746364525 RBM19 Nonsynonymous SNV N304S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.978 282790 chr11 93432163 93432163 G A CEP295 Nonsynonymous SNV R1362K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 282791 chr3 127323965 127323965 C T rs778087235 MCM2 Synonymous SNV N213N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.67 282792 chr12 118463591 118463591 T C rs372715527 RFC5 Synonymous SNV T207T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 5.079 282793 chr12 120067570 120067570 C T rs375418332 TMEM233 Synonymous SNV Y72Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 282794 chr2 112933362 112933362 T A rs766308453 FBLN7 Nonsynonymous SNV C160S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.2 282795 chr11 9989979 9989979 T C rs143773975 SBF2 Synonymous SNV E503E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.514 282796 chr11 99932087 99932087 G A rs200717963 CNTN5 Nonsynonymous SNV R301H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282797 chr12 121465502 121465502 C A rs540046843 OASL Nonsynonymous SNV G259V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 282798 chr6 33693281 33693281 G T rs144324106 IP6K3 Synonymous SNV R234R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.041 282799 chr6 34804000 34804000 G A rs200601252 UHRF1BP1 Nonsynonymous SNV S303N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 282800 chrX 115304302 115304302 A T rs782797992 AGTR2 Nonsynonymous SNV M257L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.374 282801 chrX 115304303 115304303 T A rs781887787 AGTR2 Nonsynonymous SNV M257K 0 0 0 1 0 0 0.003 0 0 0 0 0 25 282802 chr3 167184907 167184907 C T rs141824790 SERPINI2 Synonymous SNV V138V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 282803 chr12 105558015 105558017 CAG - WASHC4 A1097del 0.001 0 0 0 1 0 0 0 0 0 0 0 282804 chr12 63225974 63225974 T C PPM1H Nonsynonymous SNV T111A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 282805 chr3 143691295 143691295 C T DIPK2A Nonsynonymous SNV R41C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 282806 chr12 129180585 129180585 C T rs190794438 TMEM132C Synonymous SNV H622H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 282807 chr12 13154517 13154517 C A rs555093634 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 282808 chrX 148044334 148044334 G A rs140927355 AFF2 Nonsynonymous SNV R568H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 34 282809 chr3 183772514 183772514 G A rs60179621 HTR3C Nonsynonymous SNV G25S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.73 282810 chr12 116403926 116403926 C T rs769874135 MED13L Synonymous SNV S2116S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.74 282811 chr12 117718629 117718629 G A rs201316068 NOS1 Synonymous SNV H139H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 282812 chr3 191100583 191100583 C A CCDC50 Nonsynonymous SNV P255T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.26 282813 chr3 183368595 183368595 C G KLHL24 Nonsynonymous SNV L151V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.9 282814 chr12 26834923 26834923 G A rs78919001 ITPR2 Synonymous SNV I431I 0 0 0.007 0 0 0 0 2 0 0 0 0 16.14 282815 chr12 123465750 123465750 G T rs771942726 ARL6IP4 Stop gain E206X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 282816 chr12 123465751 123465751 A T rs772860968 ARL6IP4 Nonsynonymous SNV E206V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 282817 chr1 3415357 3415357 C T rs41315294 MEGF6 Nonsynonymous SNV R1043Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.16 282818 chr12 124416510 124416510 T A rs995933678 DNAH10 Nonsynonymous SNV M4266K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 282819 chr3 47164781 47164781 G A SETD2 Nonsynonymous SNV P405S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.945 282820 chr2 179544686 179544688 TCT - rs786205310 TTN E9928del 0.002 0 0 0 2 0 0 0 0 0 0 0 282821 chr12 50366997 50366997 T G rs144813201 AQP6 Nonsynonymous SNV M14R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 282822 chr12 133158029 133158029 C T rs372404665 FBRSL1 Synonymous SNV A656A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 282823 chr2 182521618 182521618 G A rs746924867 CERKL Nonsynonymous SNV T39M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 282824 chr12 51447585 51447585 C T rs145782522 LETMD1 Nonsynonymous SNV L83F 0 0 0.007 0 0 0 0 2 0 0 0 0 21 282825 chr12 14613913 14613913 T C rs759661713 ATF7IP Synonymous SNV I880I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.847 282826 chr4 435654 435737 CACATGTGTAGGGTTTCTCTCCAGTATGAATTCTCCTATGTACATAAAGGATTGCTGACTGTCTAAAGGCTTTGCCACATTCTT - ZNF721 E840_C867del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 282827 chr4 436033 436033 G A rs186091133 ZNF721 Synonymous SNV N741N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4 282828 chr12 51749641 51749641 G A rs139431666 GALNT6 Synonymous SNV F568F 0 0 0.007 0 0 0 0 2 0 0 0 0 12 282829 chr4 8271873 8271873 G A rs200028871 HTRA3 Nonsynonymous SNV E60K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.7 282830 chr4 13601654 13601654 G A rs16888884 BOD1L1 Synonymous SNV T2290T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.71 282831 chr4 13603918 13603918 C T rs138644252 BOD1L1 Nonsynonymous SNV G1536R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 282832 chr4 2934141 2934141 G C rs200665033 MFSD10 Nonsynonymous SNV F210L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.035 282833 chr4 3446383 3446383 C A rs780574447 HGFAC Nonsynonymous SNV T255N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 282834 chr4 5743499 5743499 A G rs201105095 EVC Synonymous SNV S253S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 5.471 282835 chr3 73016813 73016813 C A rs763120444 GXYLT2 Synonymous SNV G364G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 282836 chr13 29278111 29278111 C T SLC46A3 Nonsynonymous SNV G424S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 282837 chr12 6777072 6777072 - TGC ZNF384 Q400_P401insQ 0.002 0 0 0 2 0 0 0 0 0 0 0 282838 chr12 56626479 56626479 G A rs749866411 SLC39A5 Synonymous SNV Q98Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 282839 chr4 44449962 44449962 G T rs749476214 KCTD8 Nonsynonymous SNV H193Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.389 282840 chr4 44652105 44652105 C T rs370306946 YIPF7 Nonsynonymous SNV A29T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 282841 chr12 57115172 57115172 G A rs182949075 NACA Nonsynonymous SNV P48S 0 0 0.007 0 0 0 0 2 0 0 0 0 22.1 282842 chr12 57485656 57485656 G A rs747927391 NAB2 Nonsynonymous SNV V278I 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 282843 chr12 43825208 43825208 C T rs368733725 ADAMTS20 Nonsynonymous SNV S1063N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.169 282844 chr12 58015368 58015368 G A rs553765736 LOC101927583 0 0 0.007 0 0 0 0 2 0 0 0 0 8.294 282845 chr4 15004957 15004957 G A CPEB2 Synonymous SNV Q220Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 282846 chr4 55598062 55598062 T C rs764287169 KIT Synonymous SNV T753T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.008 282847 chr12 46321346 46321346 T C rs376607765 SCAF11 Nonsynonymous SNV N713S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 282848 chr4 68405569 68405569 G C rs60820404 CENPC Nonsynonymous SNV P74A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.479 282849 chr12 48173929 48173929 C A rs755929249 SLC48A1 Nonsynonymous SNV S102R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 282850 chr4 38053544 38053544 G A rs565624108 TBC1D1 Synonymous SNV E645E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.676 282851 chr12 7361162 7361162 C T rs765682048 PEX5 Nonsynonymous SNV R423W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 282852 chr4 44690143 44690143 C T rs770440830 GUF1 Nonsynonymous SNV A29V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 282853 chr12 80199958 80199958 C G rs61756418 PPP1R12A Nonsynonymous SNV G517A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.48 282854 chr1 36563717 36563725 CCCGGAGGG - rs746919067 COL8A2 P464_G466del 0 0 0 1 0 0 0.003 0 0 0 0 0 282855 chr13 110435199 110435199 C T rs201255644 IRS2 Nonsynonymous SNV D1068N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 282856 chr13 110435692 110435692 G A rs374227137 IRS2 Synonymous SNV S903S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.408 282857 chr2 231309044 231309044 A T SP100 Nonsynonymous SNV Y116F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 282858 chr12 53676101 53676101 G T ESPL1 Nonsynonymous SNV Q891H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 282859 chr13 111268063 111268063 G C rs201257355 NAXD Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.904 282860 chr12 53701435 53701435 A G AAAS Synonymous SNV R460R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.435 282861 chr13 113699074 113699074 G A rs376527555 MCF2L Synonymous SNV P12P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.735 282862 chr13 103381994 103381994 G C CCDC168 Nonsynonymous SNV A7018G 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 282863 chr13 103381996 103381997 AA - CCDC168 F7017Cfs*22 0 0 0.007 0 0 0 0 2 0 0 0 0 282864 chr12 56121006 56121006 C T rs765914707 CD63 Nonsynonymous SNV V62I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 282865 chr13 103390477 103390477 A G rs374795092 CCDC168 Synonymous SNV T4190T 0.004 0 0.007 0 5 0 0 2 1 0 0 0 3.391 282866 chr4 114424113 114424113 G T rs41278053 CAMK2D Synonymous SNV I139I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 282867 chr2 239180015 239180015 C T rs200865805 PER2 Nonsynonymous SNV G237D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 282868 chr4 80246696 80246696 C T rs372353454 NAA11 Synonymous SNV R112R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.709 282869 chr3 142266679 142266679 C T rs146504354 ATR Nonsynonymous SNV R1018H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 282870 chr4 83838800 83838800 - C rs769513941 THAP9 Frameshift insertion Q480Pfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 282871 chr13 111522258 111522258 A G rs2277425 LINC00346 0 0 0.007 0 0 0 0 2 0 0 0 0 2.44 282872 chr4 85716132 85716132 T A rs775747942 WDFY3 Synonymous SNV G1056G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 282873 chr12 6464533 6464533 G A rs181065138 SCNN1A Nonsynonymous SNV R409W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 282874 chr4 140417535 140417535 A G SETD7 Nonsynonymous SNV M354T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 282875 chr21 45795722 45795722 T C rs761031554 TRPM2 Nonsynonymous SNV F260L 0 0 0 2 0 0 0.005 0 0 0 0 0 19.48 282876 chr7 149512331 149512331 C G rs191157638 SSPO 0 0.005 0 0 0 2 0 0 0 0 0 0 9.332 282877 chr13 37582955 37582955 G A EXOSC8 Nonsynonymous SNV C233Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 282878 chr13 50092249 50092249 C A PHF11, SETDB2-PHF11 Nonsynonymous SNV D140E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 282879 chr4 138451626 138451626 A T rs780878353 PCDH18 Nonsynonymous SNV S539R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.1 282880 chr13 61987567 61987567 G T rs894877855 PCDH20 Nonsynonymous SNV A222E 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 282881 chr4 186380121 186380121 C T rs991334714 CCDC110 Nonsynonymous SNV M503I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 282882 chr4 141543374 141543374 T C rs770618530 TBC1D9 Nonsynonymous SNV Y1259C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.9 282883 chr14 102482233 102482233 C T rs774418749 DYNC1H1 Nonsynonymous SNV T2428M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 282884 chr12 96974810 96974810 T C rs377668288 CFAP54 Nonsynonymous SNV I1001T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 282885 chr5 1213587 1213587 A C rs370442773 SLC6A19 Nonsynonymous SNV I225L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.191 282886 chr5 2749843 2749843 T A IRX2 Nonsynonymous SNV Y103F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 282887 chr14 103803090 103803090 T C rs778801136 EIF5 Synonymous SNV N77N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.554 282888 chr4 164087646 164087646 G C rs528291320 NAF1 Synonymous SNV T78T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.63 282889 chr13 114138255 114138255 G A rs768048862 DCUN1D2 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 282890 chr4 184367322 184367322 C G rs143545447 CDKN2AIP Nonsynonymous SNV S162C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.72 282891 chr14 64681171 64681171 A C rs753261176 SYNE2 Nonsynonymous SNV Y73S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 282892 chr13 23910446 23910446 C T rs749462494 SACS Synonymous SNV G2376G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.967 282893 chr4 187522546 187522546 G A rs201796261 FAT1 Synonymous SNV Y3839Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.544 282894 chr4 187534406 187534406 C A FAT1 Nonsynonymous SNV C3107F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 282895 chr4 187540726 187540726 G T rs192720031 FAT1 Nonsynonymous SNV S2338R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.72 282896 chr5 52214656 52214656 A G rs776670629 ITGA1 Nonsynonymous SNV T695A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 282897 chr14 24507074 24507074 C T DHRS4L1 Nonsynonymous SNV T2M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.07 282898 chr5 876327 876327 G A BRD9 Synonymous SNV S371S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.694 282899 chr5 1083937 1083937 G A rs61733461 SLC12A7 Nonsynonymous SNV A351V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.5 282900 chr13 42457536 42457536 T C rs1033829254 VWA8 Nonsynonymous SNV E356G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 282901 chr13 46559647 46559647 C T rs1019716431 ZC3H13 Nonsynonymous SNV R502H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 282902 chr5 74014162 74014162 C T rs754468217 HEXB Stop gain Q406X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 282903 chr5 13883150 13883150 T C rs369783406 DNAH5 Nonsynonymous SNV S1013G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.14 282904 chr14 38276635 38276635 C T TTC6 Synonymous SNV L1491L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.21 282905 chr13 61986417 61986417 G A rs34196441 PCDH20 Synonymous SNV Y605Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 282906 chr14 93813628 93813628 G A rs144352893 COX8C Nonsynonymous SNV R5H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.269 282907 chr5 79030258 79030258 G A rs181056351 CMYA5 Synonymous SNV K1890K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 12.69 282908 chr14 54976702 54976702 C G rs749268741 CGRRF1 Nonsynonymous SNV L9V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 282909 chr14 55604774 55604774 G A rs11538648 LGALS3 Synonymous SNV A10A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 6.654 282910 chr14 55818539 55818539 A G rs201229027 FBXO34 Synonymous SNV P477P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.316 282911 chr1 152280670 152280670 G T rs536240526 FLG Stop gain S2231X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 282912 chr1 152280671 152280671 A C rs556324776 FLG Nonsynonymous SNV S2231A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 282913 chr14 67759390 67759390 G A rs140810601 MPP5 Nonsynonymous SNV S143N 0 0 0.01 0 0 0 0 3 0 0 0 0 23 282914 chr14 105407135 105407135 G T rs369715461 AHNAK2 Nonsynonymous SNV H4785N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.715 282915 chr14 71197427 71197427 C T rs764519927 MAP3K9 Synonymous SNV P728P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.56 282916 chr14 105611304 105611304 C T rs749917276 JAG2 Nonsynonymous SNV R978Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 282917 chr14 74960767 74960767 C T ISCA2 Nonsynonymous SNV S29F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.892 282918 chr14 73029246 73029246 G A rs546695314 RGS6 Synonymous SNV A467A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.467 282919 chr5 74400575 74400575 T C rs779628457 ANKRD31 Synonymous SNV P1546P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.106 282920 chr5 126140594 126140594 T C rs778469395 LMNB1 Synonymous SNV D162D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.413 282921 chr5 127863649 127863649 T C FBN2 Nonsynonymous SNV S150G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 282922 chr5 130828459 130828459 C T rs771044257 RAPGEF6 Nonsynonymous SNV R516Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 282923 chr14 96769505 96769505 T C ATG2B Nonsynonymous SNV I1644V 0 0 0.007 0 0 0 0 2 0 0 0 0 12.38 282924 chr15 101094224 101094224 G A rs911476216 PRKXP1 0 0 0.007 0 0 0 0 2 0 0 0 0 4.849 282925 chr5 110441783 110441783 G A rs145743089 WDR36 Nonsynonymous SNV R430H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 282926 chr14 93154591 93154591 C A RIN3 Nonsynonymous SNV F909L 0.007 0.003 0 0 8 1 0 0 0 0 0 0 34 282927 chr14 24799148 24799148 T G ADCY4 Nonsynonymous SNV I379L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 282928 chr5 140683228 140683228 G A SLC25A2 Nonsynonymous SNV P69S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 282929 chr5 121187667 121187667 C T rs746348100 FTMT Synonymous SNV S3S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.25 282930 chr14 31858155 31858155 C T rs780242753 HEATR5A Nonsynonymous SNV G277R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 282931 chr15 34648736 34648736 C T rs118111266 NUTM1 Nonsynonymous SNV P833S 0.003 0.003 0.007 0 3 1 0 2 0 0 0 0 Benign 0.019 282932 chr15 40751691 40751691 A G rs202104894 BAHD1 Nonsynonymous SNV H343R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 282933 chr14 51223392 51223392 T C rs191865109 NIN Synonymous SNV A1452A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.087 282934 chr4 143029286 143029286 T C rs564637655 INPP4B Synonymous SNV Q778Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.37 282935 chr5 137803138 137803138 C A rs201213506 EGR1 Nonsynonymous SNV H334N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 282936 chr15 44084360 44084360 G C rs542730796 SERF2-C15ORF63 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 282937 chr3 191179050 191179050 C A rs74791942 PYDC2 Synonymous SNV I33I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.2 282938 chr5 140772938 140772938 C A rs756105318 PCDHGA8 Nonsynonymous SNV D186E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 282939 chr8 1496947 1496947 C G DLGAP2 Nonsynonymous SNV L110V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 282940 chr14 65209715 65209715 T C rs774427582 PLEKHG3 Nonsynonymous SNV V985A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 282941 chr4 178281668 178281668 T C rs375105298 NEIL3 Nonsynonymous SNV I491T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 282942 chr5 145197481 145197481 C G rs368066613 PRELID2 Nonsynonymous SNV R115P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 282943 chr15 52902079 52902079 G A FAM214A Synonymous SNV S351S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.384 282944 chr5 176323066 176323066 A G rs757567871 HK3 Nonsynonymous SNV L32P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 282945 chr5 176395732 176395732 C T rs146651852 UIMC1 Nonsynonymous SNV A342T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 282946 chr15 63097949 63097949 C T TLN2 Nonsynonymous SNV R2210W 0 0 0.007 0 0 0 0 2 0 0 0 0 35 282947 chr5 150036305 150036316 CCGCCCCCGCCC - rs769259449 SYNPO P797_P800del 0.002 0.01 0 0 2 4 0 0 1 2 0 0 282948 chr14 81743463 81743463 C T rs747981712 STON2 Nonsynonymous SNV R731H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 282949 chr8 27289791 27289791 C T rs200116993 PTK2B Synonymous SNV A300A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.7 282950 chr5 155771639 155771639 G C rs372152495 SGCD Synonymous SNV V47V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 7.462 282951 chr6 7556022 7556022 G A rs140965835 DSP Nonsynonymous SNV C81Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 282952 chr15 65676618 65676618 G A rs61747070 IGDCC4 Nonsynonymous SNV P1161L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 282953 chr5 176070154 176070154 G A rs143370383 EIF4E1B Synonymous SNV T29T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.427 282954 chr6 17781080 17781080 C T rs200009476 KIF13A Nonsynonymous SNV V1230I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 282955 chr6 24836090 24836090 C T rs373584238 RIPOR2 Synonymous SNV S683S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.28 282956 chr10 124344811 124344811 C G DMBT1 Nonsynonymous SNV P472R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.36 282957 chr15 101434345 101434345 A C rs78221086 LOC101927751 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 282958 chr5 178410019 178410019 G A rs775064996 GRM6 Synonymous SNV P776P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.09 282959 chr15 23021271 23021271 A G rs370224790 NIPA2 Synonymous SNV I22I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.388 282960 chr15 75230346 75230346 C T COX5A Nonsynonymous SNV A4T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.837 282961 chr10 126515235 126515235 C T rs760645152 ABRAXAS2 Synonymous SNV H113H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.35 282962 chr15 25953388 25953388 C T rs539643535 ATP10A Nonsynonymous SNV V802M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.4 282963 chr5 179318522 179318522 G A rs748486833 TBC1D9B Nonsynonymous SNV R301W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 282964 chr15 89758294 89758294 A G RLBP1 Synonymous SNV D174D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.029 282965 chr6 33653431 33653431 T G rs759538163 ITPR3 Nonsynonymous SNV S1832A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.852 282966 chr6 33653435 33653435 T C rs765123685 ITPR3 Nonsynonymous SNV F1833S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.653 282967 chr16 19195052 19195052 G C rs765655008 SYT17 Nonsynonymous SNV E174D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.5 282968 chr6 2840813 2840813 T C SERPINB1 Nonsynonymous SNV Q3R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 282969 chr6 7299004 7299004 C G rs149302696 SSR1 Nonsynonymous SNV R131T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.3 282970 chr15 40586517 40586517 - GGGGTTG PLCB2 Frameshift insertion F667Qfs*53 0.001 0 0 0 1 0 0 0 0 0 0 0 282971 chr6 10586639 10586639 T G GCNT2 Synonymous SNV S139S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 282972 chr15 41822094 41822094 A T rs139677678 RPAP1 Nonsynonymous SNV L343M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.2 282973 chr6 24850136 24850136 T C RIPOR2 Nonsynonymous SNV S310G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 282974 chr9 113637718 113637718 C T LPAR1 Nonsynonymous SNV D360N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 282975 chr16 19514832 19514832 A G GDE1 Nonsynonymous SNV I288T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 282976 chr15 45400357 45400357 C T rs191759494 DUOX2 Nonsynonymous SNV G488R 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 34 282977 chr6 52144294 52144294 T C rs867876998 MCM3 Nonsynonymous SNV Q166R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 282978 chr6 52935897 52935899 GAT - rs757029491 FBXO9 D28del 0.001 0 0 0 1 0 0 0 0 0 0 0 282979 chr16 2294432 2294432 T A rs745357478 ECI1 Nonsynonymous SNV N139I 0 0 0.003 0 0 0 0 1 0 0 0 0 21 282980 chr16 28495335 28495335 G A rs199627744 CLN3 Nonsynonymous SNV S161L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.5 282981 chr16 2881906 2881906 G A rs200978488 ZG16B Nonsynonymous SNV A125T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.091 282982 chr6 39846027 39846027 G A DAAM2 Synonymous SNV K450K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.39 282983 chr16 29982831 29982831 C T rs370014475 TMEM219 Nonsynonymous SNV R230C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 282984 chr15 56207883 56207883 G A rs201712441 NEDD4 Stop gain R383X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 282985 chr16 30615992 30615992 A G ZNF689 Synonymous SNV L366L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.138 282986 chr16 30760148 30760148 C T PHKG2 Synonymous SNV L3L 0 0 0.007 0 0 0 0 2 0 0 0 0 19.34 282987 chr6 42932668 42932812 CTGTTGTGGGATACAGGAAGAAACAGAGTTGGCATCACCTCCTCCCTCGAAAGCCAGTGCTGACCAGCTCATCCTGCATGTTGCATGCATCCCCTAAGCATCCCAAGGCCCAAGCCCTTCGCAGTCTTCCTCTAACAGAGCATAC - PEX6 0 0.003 0 0 0 1 0 0 0 0 0 0 282988 chr16 3196062 3196062 C T rs773814054 CASP16P 0 0 0.01 0 0 0 0 3 0 0 0 0 10.13 282989 chr6 43166502 43166502 C T rs374310005 CUL9 Nonsynonymous SNV R987C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 282990 chr6 43183010 43183010 G A rs552782485 CUL9 Nonsynonymous SNV R1961Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 282991 chr9 130592016 130592016 T C rs757343854 ENG Nonsynonymous SNV S104G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.224 282992 chr15 66215201 66215201 G T rs148621461 MEGF11 Stop gain C594X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 282993 chr16 4836098 4836098 C T rs546773649 SEPTIN12 Nonsynonymous SNV G59R 0 0 0.007 0 0 0 0 2 0 0 0 0 31 282994 chr15 66792666 66792666 T G RPL4 Nonsynonymous SNV K294N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 282995 chr16 49671924 49671924 C T rs756448653 ZNF423 Nonsynonymous SNV R263H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 282996 chr16 55362958 55362958 C T rs9888996 IRX6 Synonymous SNV H356H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 7.085 282997 chr15 74032626 74032626 T G INSYN1 Nonsynonymous SNV K172Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 282998 chr6 116938372 116938372 G A RSPH4A Nonsynonymous SNV A196T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.38 282999 chr15 75500930 75500930 C T rs200021818 C15orf39 Synonymous SNV H847H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 283000 chr6 117681545 117681545 C A ROS1 Synonymous SNV G1135G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.96 283001 chr9 135273583 135273583 C A rs751556816 TTF1 Nonsynonymous SNV E59D 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.7 283002 chr9 135932234 135932234 C T rs148556381 GTF3C5 Synonymous SNV S270S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 14.87 283003 chr6 76554627 76554627 G A MYO6 Nonsynonymous SNV G277D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.4 283004 chr6 133044173 133044173 C G rs760428021 VNN3 Nonsynonymous SNV L174F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.264 283005 chr6 90395631 90395631 G C MDN1 Synonymous SNV S3878S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.58 283006 chr16 70693540 70693540 A T rs370570658 IL34 Nonsynonymous SNV K140M 0 0 0.003 0 0 0 0 1 0 0 0 0 28 283007 chr6 96971032 96971032 C T rs761182385 UFL1 Nonsynonymous SNV R30W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 283008 chr15 89402614 89402614 G A rs376248183 ACAN Synonymous SNV P2266P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 283009 chr15 89417693 89417693 G A rs186576211 ACAN Nonsynonymous SNV R2426H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 283010 chr10 94369247 94369247 C T rs145656661 KIF11 Synonymous SNV L227L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.68 283011 chr15 90176186 90176186 C T rs777277054 KIF7 Synonymous SNV E920E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 283012 chr16 81204371 81204371 C A rs774904026 PKD1L2 Nonsynonymous SNV A299S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.105 283013 chr6 116441698 116441698 C T rs775553455 COL10A1 Synonymous SNV K527K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.321 283014 chr15 91491393 91491393 C G rs372041026 UNC45A Nonsynonymous SNV I394M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.088 283015 chr16 88498727 88498727 C T rs557351664 ZNF469 Nonsynonymous SNV P1617S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.005 283016 chr6 160103558 160103558 A G SOD2 Synonymous SNV N173N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.715 283017 chr16 84695528 84695528 G A rs564028776 KLHL36 Nonsynonymous SNV R484H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 283018 chr9 26935157 26935157 T C rs201898613 PLAA Nonsynonymous SNV N66S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 283019 chr16 85704698 85704698 C T rs140262878 GSE1 Synonymous SNV S1067S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.06 283020 chr16 88800017 88800017 G A rs138064042 PIEZO1 Synonymous SNV T822T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.33 283021 chr16 88800883 88800883 G C PIEZO1 Synonymous SNV P687P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 283022 chr6 144852187 144852187 G A rs190765324 UTRN 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 283023 chr7 933403 933403 T C GET4 Nonsynonymous SNV L258P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 283024 chr16 88752743 88752743 C T rs150728595 SNAI3 Synonymous SNV Q24Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 283025 chr7 2579181 2579181 C T rs142129866 BRAT1 Nonsynonymous SNV G357R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 23.4 283026 chr2 99720482 99720482 T G TSGA10 Nonsynonymous SNV M187L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 283027 chr2 99720483 99720483 T G TSGA10 Synonymous SNV A186A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.292 283028 chr7 4845304 4845304 G A RADIL Nonsynonymous SNV P728L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 283029 chr16 89341267 89341267 C T rs749777331 ANKRD11 Synonymous SNV T2556T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.37 283030 chr6 154431507 154431507 A G OPRM1 Synonymous SNV Q394Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.903 283031 chr6 157522410 157522410 G A ARID1B Nonsynonymous SNV R851H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 283032 chr16 22151476 22151476 G C VWA3A Nonsynonymous SNV S765T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 283033 chr16 2231019 2231019 G C rs781666454 CASKIN1 Nonsynonymous SNV R784G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 283034 chr9 847073 847073 G A rs142217519 DMRT1 Synonymous SNV P156P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.2 283035 chr17 18071036 18071036 G A rs773647512 MYO15A Nonsynonymous SNV V3361M 0 0 0.007 0 0 0 0 2 0 0 0 0 13.92 283036 chr11 116661249 116661249 G T rs146781249 APOA5 Synonymous SNV S232S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.147 283037 chr17 19645944 19645944 C G rs145445256 ALDH3A1 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 283038 chr16 87349379 87349379 G A C16orf95 Nonsynonymous SNV S68L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 283039 chr7 889221 889221 T C rs748805201 SUN1 Synonymous SNV S191S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.062 283040 chr7 1785047 1785047 C T rs956135073 ELFN1 Nonsynonymous SNV P272L 0 0.005 0 0 0 2 0 0 0 0 0 0 1.495 283041 chr16 336459 336462 TGTT - PDIA2 F410Sfs*65 0.001 0 0 0 1 0 0 0 0 0 0 0 283042 chr17 2203126 2203126 G C rs368892499 SMG6 Nonsynonymous SNV D307E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 283043 chr7 44147421 44147421 G A rs145045450 AEBP1 Synonymous SNV R251R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 283044 chr17 2585049 2585049 G A rs781058937 PAFAH1B1 Nonsynonymous SNV V396I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 283045 chr16 89016936 89016936 C T rs746508977 LOC100129697 Nonsynonymous SNV S137L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.767 283046 chr17 27579087 27579087 T C rs747911163 CRYBA1 Nonsynonymous SNV I74T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 283047 chr16 4702695 4702695 G A rs201331866 MGRN1 Nonsynonymous SNV D105N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 283048 chr7 6080760 6080760 T C rs140285220 EIF2AK1 Synonymous SNV E293E 0.002 0.005 0 0 2 2 0 0 0 0 0 0 0.118 283049 chr17 32647299 32647299 A T rs769159848 CCL8 Nonsynonymous SNV I30F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.02 283050 chrX 149638193 149638193 T A MAMLD1 Nonsynonymous SNV N91K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.44 283051 chr16 58079065 58079065 G A rs756434417 MMP15 Synonymous SNV P575P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.169 283052 chr16 58590848 58590848 A T CNOT1 Synonymous SNV L794L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.103 283053 chr7 73770774 73770774 G A CLIP2 Nonsynonymous SNV A280T 0.001 0 0 0 1 0 0 0 0 0 0 0 26 283054 chr7 81381441 81381441 G A rs377663087 HGF Nonsynonymous SNV S207L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 283055 chr16 66526940 66526940 C A BEAN1 Nonsynonymous SNV A76D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 283056 chr16 67576668 67576668 C A rs750310083 RIPOR1 Nonsynonymous SNV P664H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.902 283057 chr16 69922120 69922120 G A rs141078562 WWP2 Synonymous SNV A178A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 283058 chr16 70190543 70190543 A G rs201033817 PDPR Nonsynonymous SNV S701G 0.001 0 0.007 0 1 0 0 2 0 0 0 0 27.1 283059 chr7 37907402 37907402 C G NME8 Synonymous SNV T240T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.138 283060 chr7 39991141 39991141 C T rs762184046 CDK13 Nonsynonymous SNV R301W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 283061 chr17 39728023 39728023 G A rs114665757 KRT9 Synonymous SNV G74G 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 8.485 283062 chr11 2016657 2016657 C T rs72556550 HOTS Synonymous SNV L77L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.31 283063 chr7 100421275 100421275 G C EPHB4 Synonymous SNV P134P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.446 283064 chr17 41590762 41590762 G T DHX8 Synonymous SNV S754S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 283065 chr1 874659 874659 G A rs768456653 SAMD11 Synonymous SNV A175A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.345 283066 chr7 48007494 48007494 G A rs773746363 HUS1 Synonymous SNV N202N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.578 283067 chr11 284254 284254 C G rs138549024 NLRP6 Nonsynonymous SNV D741E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.79 283068 chr11 289990 289990 G A rs772565314 PGGHG Synonymous SNV L58L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.956 283069 chr17 4436392 4436392 G A rs771614086 SPNS2 Synonymous SNV T352T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.773 283070 chr6 110112655 110112655 G C FIG4 Nonsynonymous SNV A753P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 283071 chr16 84225079 84225079 C T ADAD2 Synonymous SNV A81A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 283072 chr17 3563533 3563533 A C CTNS Nonsynonymous SNV Q325P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 283073 chr17 48193233 48193233 C T rs80248520 SAMD14 Nonsynonymous SNV R208Q 0 0 0.007 0 0 0 0 2 0 0 0 0 34 283074 chr17 48846042 48846042 C T MIR8059 0 0 0.003 0 0 0 0 1 0 0 0 0 1.162 283075 chr17 4906130 4906130 C T rs777832656 KIF1C Nonsynonymous SNV S238L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 283076 chr17 38551718 38551720 TTC - TOP2A K1265del 0.001 0 0 0 1 0 0 0 0 0 0 0 283077 chr6 133045915 133045915 C - VNN3 D53Mfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 283078 chr17 58133560 58133560 A G rs144826670 HEATR6 Synonymous SNV T706T 0 0 0.007 0 0 0 0 2 0 0 0 0 10.62 283079 chr16 89294081 89294081 C T rs764727291 ZNF778 Nonsynonymous SNV S434L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 283080 chr7 100187399 100187399 C T rs377517362 FBXO24 Nonsynonymous SNV R46W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 283081 chr17 63173903 63173903 T C rs750247039 RGS9 Synonymous SNV N212N 0 0 0.007 0 0 0 0 2 0 0 0 0 3.742 283082 chr17 10296458 10296458 C A rs779629920 MYH8 Stop gain E1746X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 283083 chr17 10304769 10304769 C T MYH8 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 283084 chr6 151894325 151894325 T C CCDC170 Nonsynonymous SNV V264A 0.001 0 0 0 1 0 0 0 0 0 0 0 11 283085 chr17 39912023 39912023 G A JUP Synonymous SNV Y737Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.686 283086 chr17 6978495 6978495 C T CLEC10A Nonsynonymous SNV G250S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 283087 chr1 17297192 17297192 G A rs139547234 CROCC Nonsynonymous SNV R1905H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 283088 chr6 160237046 160237046 G A rs200323574 PNLDC1 Synonymous SNV A347A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.205 283089 chr17 41368568 41368568 A G TMEM106A Nonsynonymous SNV N177S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.003 283090 chr7 139635991 139635991 C T rs139976441 TBXAS1 Nonsynonymous SNV A51V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 283091 chr17 17787974 17787974 G C TOM1L2 Nonsynonymous SNV L109V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 283092 chr1 18809777 18809777 C T KLHDC7A Nonsynonymous SNV P768S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 283093 chr17 18025502 18025502 G T MYO15A Nonsynonymous SNV V1130F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 283094 chr17 7287967 7287967 G C TNK1 Nonsynonymous SNV R344T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 283095 chr7 142567715 142567715 A G EPHB6 Nonsynonymous SNV Q576R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 283096 chr17 74673718 74673718 C G rs376837467 MXRA7 Nonsynonymous SNV E189D 0 0 0.007 0 0 0 0 2 0 0 0 0 25.2 283097 chr7 100731976 100731976 A G rs143242575 TRIM56 Synonymous SNV K461K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 283098 chr17 77808286 77808286 G A rs767806014 CBX4 Synonymous SNV H385H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 283099 chr17 78064172 78064172 - A rs58064706 CCDC40 Frameshift insertion H1023Qfs*71 0 0 0.003 0 0 0 0 1 0 0 0 0 283100 chr17 78064175 78064175 - CG rs60798305 CCDC40 Frameshift insertion R1024Tfs*19 0 0 0.007 0 0 0 0 2 0 0 0 0 283101 chr17 55822466 55822466 G A rs575610846 CCDC182 Synonymous SNV A56A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 283102 chr7 134618796 134618796 G A CALD1 Nonsynonymous SNV D426N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 20.3 283103 chr17 79980718 79980718 C G rs143665277 CENPX Nonsynonymous SNV G7A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.355 283104 chr1 33959152 33959152 - CA ZSCAN20 Frameshift insertion G604Afs*26 0.002 0 0 1 2 0 0.003 0 0 0 0 0 283105 chr1 33959153 33959153 G T ZSCAN20 Nonsynonymous SNV G604V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.618 283106 chr1 33959155 33959155 - CCC ZSCAN20 E605delinsAQ 0.002 0 0 1 2 0 0.003 0 0 0 0 0 283107 chr1 33959157 33959157 A G ZSCAN20 Synonymous SNV E605E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.422 283108 chr1 33959159 33959159 T A ZSCAN20 Nonsynonymous SNV V606E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 7.497 283109 chr17 36486670 36486670 G T rs779942801 GPR179 Nonsynonymous SNV L928M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 283110 chr7 140159555 140159555 A G MKRN1 Nonsynonymous SNV W166R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 283111 chr18 10704424 10704424 G A rs771545517 PIEZO2 Nonsynonymous SNV R1963W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 283112 chr8 22478958 22478958 G C rs371797360 BIN3 Nonsynonymous SNV L199V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 283113 chr18 23724628 23724628 C A rs552367990 PSMA8 Nonsynonymous SNV H70N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 283114 chr8 22864797 22864797 G A rs762216794 RHOBTB2 Nonsynonymous SNV V354M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 283115 chr17 39503433 39503433 G A rs145206731 KRT33A Synonymous SNV N210N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 283116 chr18 29056161 29056161 A G DSG3 Nonsynonymous SNV T980A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 283117 chr18 34901833 34901833 C T rs41352348 CELF4 Synonymous SNV P127P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 Benign 13.1 283118 chr8 29024980 29024980 G A rs367928436 KIF13B Synonymous SNV H356H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.485 283119 chr18 44572859 44572859 A G rs569676424 KATNAL2 Nonsynonymous SNV N28S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 283120 chr11 61725703 61725703 A G BEST1 Nonsynonymous SNV H161R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.43 283121 chr18 48500765 48500765 A G rs748285842 ELAC1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 283122 chr8 38277066 38277066 C T rs144131616 FGFR1 Synonymous SNV L334L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.28 283123 chr17 46847116 46847116 G C TTLL6 Nonsynonymous SNV P488R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 283124 chr18 21427428 21427428 C T rs200422355 LAMA3 Nonsynonymous SNV P1311L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.4 283125 chr11 6453230 6453230 G T rs759936517 HPX Nonsynonymous SNV L285M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 283126 chr18 21496641 21496641 G C rs138571165 LAMA3 Synonymous SNV L970L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 3.675 283127 chr6 88854141 88854141 C T rs199892728 CNR1 Nonsynonymous SNV V285I 0.003 0 0 0 3 0 0 0 0 0 0 0 6.469 283128 chr17 48823359 48823359 G C rs771159956 LUC7L3 Synonymous SNV R324R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.476 283129 chr18 77659495 77659495 T C rs114148894 KCNG2 Synonymous SNV Y360Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.018 283130 chr19 1004883 1004883 C T rs76549448 GRIN3B Synonymous SNV A461A 0 0 0.007 0 0 0 0 2 0 0 0 0 10.32 283131 chr17 55962770 55962770 G A rs149380427 CUEDC1 Synonymous SNV D52D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 283132 chr8 25178548 25178548 G A rs368897597 DOCK5 Nonsynonymous SNV R532Q 0.003 0.003 0 0 4 1 0 0 0 0 0 0 35 283133 chr17 79974959 79974959 G A ASPSCR1 Nonsynonymous SNV G488S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 283134 chr17 80006671 80006671 G A RFNG Synonymous SNV I309I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 283135 chr8 26500963 26500963 G T DPYSL2 Nonsynonymous SNV V379L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 283136 chr8 117671155 117671155 G A EIF3H Synonymous SNV G118G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.946 283137 chr8 35583821 35583821 C G UNC5D Synonymous SNV V480V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.07 283138 chr17 62271012 62271012 G T rs369050753 TEX2 Synonymous SNV R695R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 283139 chr8 38065246 38065246 C G rs150045830 BAG4 Nonsynonymous SNV P163A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.636 283140 chr6 117113726 117113726 C T rs188971795 GPRC6A Nonsynonymous SNV G716D 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 283141 chr6 117592088 117592088 G A VGLL2 Synonymous SNV P258P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.57 283142 chr17 65344724 65344724 G C rs763447217 PSMD12 Nonsynonymous SNV T131S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 283143 chr18 19153324 19153324 G A rs549925063 ESCO1 Nonsynonymous SNV P494L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 283144 chr19 1469661 1469661 T A APC2 Nonsynonymous SNV S2120T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.272 283145 chr18 20837289 20837289 C T rs777583651 CABLES1 Synonymous SNV H620H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 283146 chr8 61497309 61497309 C G rs773993018 RAB2A Synonymous SNV T75T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 283147 chr19 14877102 14877102 C T rs141539462 ADGRE2 Synonymous SNV P193P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.389 283148 chr18 21708884 21708884 A G TTC39C Synonymous SNV G178G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 283149 chr18 63491982 63491982 A G CDH7 Nonsynonymous SNV Y299C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 283150 chr8 82736151 82736151 G A rs369389377 SNX16 Stop gain R134X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 283151 chr8 91990852 91990852 G A rs182107470 C8orf88 Synonymous SNV N34N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.95 283152 chr8 144992393 144992393 G A rs782732974 PLEC Nonsynonymous SNV R3852C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 283153 chr18 34753024 34753024 A G rs200954144 KIAA1328 Synonymous SNV S393S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.824 283154 chr1 117568632 117568632 C G LOC101929099 0.001 0 0 0 1 0 0 0 0 0 0 0 5.614 283155 chr8 144996976 144996976 C T rs201417343 PLEC Nonsynonymous SNV R2360Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 283156 chr17 73231755 73231755 G A rs200563260 NUP85 Nonsynonymous SNV G605D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 283157 chr17 7329034 7329034 C T rs373055616 SPEM2 Synonymous SNV T9T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.41 283158 chr8 110441677 110441677 A G PKHD1L1 Nonsynonymous SNV S1037G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.84 283159 chr8 110535067 110535067 A C PKHD1L1 Nonsynonymous SNV Q4093P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.463 283160 chr8 145580530 145580530 G A rs199834148 FBXL6 Stop gain R273X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 283161 chr11 86123525 86123525 A G rs762227250 CCDC81 Nonsynonymous SNV R349G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 283162 chr19 18258352 18258352 G T rs746362529 MAST3 Nonsynonymous SNV E1104D 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 283163 chr8 145770825 145770825 C T rs375868923 ARHGAP39 Nonsynonymous SNV V777M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 283164 chr11 89184985 89184985 T C rs545903395 NOX4 Nonsynonymous SNV T53A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.664 283165 chr8 125487397 125487397 A C RNF139 Nonsynonymous SNV Q16P 0 0.003 0 0 0 1 0 0 0 0 0 0 14 283166 chr19 19681001 19681001 G A PBX4 Synonymous SNV G183G 0 0 0.007 0 0 0 0 2 0 0 0 0 9.851 283167 chr6 166580094 166580094 T G TBXT Nonsynonymous SNV N153H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 283168 chr7 135261093 135261093 G C NUP205 Nonsynonymous SNV R140P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 283169 chr17 76539961 76539961 A T DNAH17 Nonsynonymous SNV V837E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 283170 chr17 76799712 76799712 T C USP36 Synonymous SNV T855T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 283171 chr1 155041570 155041570 G A rs1021875220 EFNA4 Nonsynonymous SNV R182Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 283172 chr9 20986393 20986393 A G rs147484762 FOCAD Nonsynonymous SNV E1612G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 283173 chr19 308842 308842 C T MIER2 Synonymous SNV Q320Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 283174 chr17 77757798 77757798 C T rs141196296 CBX2 Synonymous SNV L186L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 283175 chr1 156264663 156264663 G A rs773325192 GLMP Nonsynonymous SNV H89Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.1 283176 chr8 143831732 143831732 G A rs368060572 LYPD2 Nonsynonymous SNV T116M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.283 283177 chr12 101573811 101573811 A C rs143120731 SLC5A8 Nonsynonymous SNV L410W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 27.9 283178 chr8 144522284 144522284 G A ZC3H3 Synonymous SNV S914S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 283179 chr1 158057826 158057826 C T rs372224823 KIRREL1 Synonymous SNV D166D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 283180 chr9 37441051 37441053 CTC - rs756257976 ZBTB5 G499del 0.001 0 0 0 1 0 0 0 0 0 0 0 283181 chr19 35996840 35996840 C T rs199739325 DMKN 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 283182 chr19 36223360 36223360 T A rs916989837 KMT2B Synonymous SNV P1970P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.21 283183 chr9 72047491 72047491 G A rs142971150 APBA1 Synonymous SNV H801H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 283184 chr3 180359862 180359862 T C rs909562802 CCDC39 Nonsynonymous SNV E598G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 283185 chr19 36536712 36536712 A C rs76405871 LOC101927572 Synonymous SNV R101R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.42 283186 chr3 184007303 184007303 C T rs374121789 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV R456C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 283187 chr19 37642560 37642560 C T ZNF585A Synonymous SNV K747K 0 0 0.007 0 0 0 0 2 0 0 0 0 9.993 283188 chr19 37870048 37870048 G A rs751897425 ZNF527 Synonymous SNV A20A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 283189 chr9 94486849 94486849 C T ROR2 Nonsynonymous SNV A643T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 283190 chr7 151859670 151859670 G A rs149510534 KMT2C Synonymous SNV V3664V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.558 283191 chr17 9490112 9490112 A G CFAP52 Nonsynonymous SNV D55G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 283192 chr9 4576045 4576045 T C rs34342853 SLC1A1 Nonsynonymous SNV I307T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 21.9 283193 chr19 38741990 38741990 G A rs566967876 PPP1R14A Nonsynonymous SNV L111F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 283194 chr19 38886525 38886525 C T SPRED3 Synonymous SNV L325L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.87 283195 chr9 98242373 98242373 - TAAAA PTCH1 0.001 0 0 0 1 0 0 0 0 0 0 0 283196 chr9 99012011 99012011 C T rs370921348 HSD17B3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.856 283197 chr19 3980855 3980855 G A rs770867009 EEF2 Synonymous SNV D378D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 283198 chr9 103070820 103070820 G A rs79245589 TEX10 Synonymous SNV L812L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 283199 chr9 19435068 19435068 C T rs141700425 ACER2 Synonymous SNV I163I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.51 283200 chr19 41012199 41012199 G C rs372960156 SPTBN4 Nonsynonymous SNV L574F 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 283201 chr18 23845138 23845138 C T rs373491950 TAF4B Synonymous SNV T116T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.11 283202 chr19 41096200 41096200 T C rs370006868 SHKBP1 Nonsynonymous SNV V547A 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 283203 chr19 418973 418973 G A rs147988680 SHC2 Synonymous SNV A568A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 15.87 283204 chr9 112225669 112225669 G A rs200407136 PTPN3 Nonsynonymous SNV R16C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 283205 chr18 28989500 28989500 C T rs143288405 DSG4 Synonymous SNV G673G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.85 283206 chr12 123416765 123416765 C T rs774975645 ABCB9 Nonsynonymous SNV A609T 0 0 0 1 0 0 0.003 0 0 0 0 0 35 283207 chr19 42260757 42260757 C T CEACAM6 Nonsynonymous SNV A105V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 283208 chr19 21216380 21216380 T C rs148598454 ZNF430 Nonsynonymous SNV V72A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.901 283209 chr19 21240683 21240683 C A rs139798103 ZNF430 Nonsynonymous SNV S522R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.08 283210 chr19 21300617 21300617 C T rs372317502 ZNF714 Nonsynonymous SNV L383F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.594 283211 chr9 115806310 115806310 G A rs781721132 ZFP37 Synonymous SNV N211N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 283212 chr19 21300933 21300933 C A rs200293321 ZNF714 Nonsynonymous SNV A488D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 283213 chr9 115945065 115945065 A C rs749927173 FKBP15 Nonsynonymous SNV L632W 0.001 0 0 0 1 0 0 0 0 0 0 0 29 283214 chr9 36589555 36589555 C T rs35233455 MELK Nonsynonymous SNV T24M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 283215 chr19 44030743 44030743 C G rs142193567 ETHE1 Synonymous SNV L50L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 23.1 283216 chr9 37512709 37512709 C T rs550415330 FBXO10 Synonymous SNV T902T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.93 283217 chr9 37518155 37518155 G A rs763970145 FBXO10 Synonymous SNV S827S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 283218 chr18 44087528 44087528 C T rs374269964 LOXHD1 Nonsynonymous SNV V128I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 283219 chr18 44102176 44102176 C T rs745381643 LOXHD1 Nonsynonymous SNV R451H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 283220 chr18 46690157 46690157 A G DYM Synonymous SNV S486S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 283221 chr8 22054325 22054325 T A rs778691967 BMP1 Nonsynonymous SNV F633Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 283222 chr9 123624227 123624227 G T PHF19 Stop gain S187X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 283223 chr8 22863572 22863572 A G rs148179064 RHOBTB2 Synonymous SNV R139R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.058 283224 chr19 33467526 33467526 G A FAAP24 Nonsynonymous SNV E101K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 283225 chr9 90499849 90499849 C T rs148586576 SPATA31E1 Synonymous SNV G149G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 283226 chr9 91943660 91943660 A G SECISBP2 Synonymous SNV T219T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 283227 chr9 127572549 127572549 C T rs141355595 OLFML2A Nonsynonymous SNV T392M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 283228 chr9 98684662 98684662 G T rs146551545 ERCC6L2 Nonsynonymous SNV V459F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 283229 chr19 22154377 22154377 G A rs145551125 ZNF208 Synonymous SNV S1153S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.309 283230 chr9 131112639 131112639 C T SLC27A4 Nonsynonymous SNV A255V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 283231 chr19 23927227 23927227 A G ZNF681 Synonymous SNV F375F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.762 283232 chr19 2810463 2810463 C T THOP1 Synonymous SNV L539L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 283233 chr18 74153356 74153356 G A ZNF516 Nonsynonymous SNV A552V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 283234 chr19 49340672 49340672 C A rs887904668 PLEKHA4 Synonymous SNV G738G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 283235 chr19 38652935 38652935 T C SIPA1L3 Nonsynonymous SNV I1235T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.416 283236 chr9 116269882 116269882 C T rs145778128 RGS3 Synonymous SNV N186N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.978 283237 chr19 50097766 50097766 C T rs761696004 PRR12 Synonymous SNV D85D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 283238 chr19 50098815 50098815 C A rs558152320 PRR12 Nonsynonymous SNV P408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 283239 chr19 50167756 50167756 C T rs529450615 IRF3 Nonsynonymous SNV V2M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.894 283240 chr19 50249799 50249799 G A rs762217833 TSKS Nonsynonymous SNV P307L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.603 283241 chr9 116931562 116931562 G C rs148019836 COL27A1 Nonsynonymous SNV S576T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.245 283242 chr19 10224321 10224321 G T P2RY11, PPAN-P2RY11 Nonsynonymous SNV C11F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 283243 chr19 51170629 51170629 A T SHANK1 Nonsynonymous SNV S1530T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.653 283244 chr1 224621711 224621711 C A WDR26 Nonsynonymous SNV A33S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 283245 chr19 41825654 41825654 G C rs750609499 CCDC97 Nonsynonymous SNV Q161H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 283246 chr8 101075822 101075822 C T rs773060434 RGS22 Nonsynonymous SNV A211T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 283247 chr8 101625249 101625249 C T rs538309289 SNX31 Nonsynonymous SNV R67Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 283248 chr1 226413446 226413446 C T rs762979565 MIXL1 Nonsynonymous SNV S219F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 283249 chr19 42224865 42224865 - C rs782698410 CEACAM5 Frameshift insertion D602Rfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 283250 chr19 42703894 42703894 - C DEDD2 Frameshift insertion A226Gfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 283251 chr19 42746335 42746335 G C GSK3A Nonsynonymous SNV R95G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 283252 chr19 52496728 52496728 T C rs200244037 ZNF615 Nonsynonymous SNV H539R 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 283253 chr9 127762238 127762238 A G rs367626941 SCAI Synonymous SNV N392N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.645 283254 chr7 100731366 100731366 C T rs368550973 TRIM56 Nonsynonymous SNV A258V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.639 283255 chr8 124359441 124359441 C G ATAD2 Synonymous SNV L701L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.482 283256 chr19 53644366 53644366 T C ZNF347 Nonsynonymous SNV N573S 0 0 0.007 0 0 0 0 2 0 0 0 0 8.469 283257 chr9 140637872 140637872 A G EHMT1 Synonymous SNV R260R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.804 283258 chr9 131748920 131748920 G A rs371820261 NUP188 Synonymous SNV K720K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 283259 chr9 131860292 131860292 C T rs149498107 CRAT Synonymous SNV T488T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.87 283260 chr19 1482150 1482150 G A rs751271385 PCSK4 Nonsynonymous SNV R626W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 283261 chr4 89618859 89618859 G A rs372916585 NAP1L5 Nonsynonymous SNV A16V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 283262 chr9 133333854 133333854 G A rs141640176 ASS1 Nonsynonymous SNV A81T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.2 283263 chr10 5762910 5762910 C T rs371687109 TASOR2 Synonymous SNV Y41Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.084 283264 chr10 5791394 5791394 G C TASOR2 Nonsynonymous SNV V1923L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 283265 chr9 134405887 134405887 T C UCK1 Nonsynonymous SNV N85S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 283266 chr19 45377254 45377254 G A rs149575863 NECTIN2 Nonsynonymous SNV R286H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.28 283267 chr10 16946051 16946051 A G rs1007248288 CUBN Nonsynonymous SNV V2659A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.577 283268 chr19 56114228 56114228 G C ZNF524 Synonymous SNV G250G 0 0 0.007 0 0 0 0 2 0 0 0 0 4.726 283269 chr9 137777185 137777185 C T rs151081783 FCN2 Synonymous SNV D96D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.76 283270 chr9 137777683 137777683 G A rs147569918 FCN2 Nonsynonymous SNV G129S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 283271 chr10 18937564 18937564 G A rs149212253 NSUN6 Nonsynonymous SNV A29V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.551 283272 chr10 27389155 27389155 G A rs368560982 ANKRD26 Nonsynonymous SNV A34V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.04 283273 chr19 1827298 1827298 G A rs773232891 REXO1 Nonsynonymous SNV A497V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 283274 chr10 27499917 27499917 C T rs200245623 ACBD5 Nonsynonymous SNV D167N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 283275 chr9 139915393 139915393 G A rs755706083 ABCA2 Synonymous SNV L340L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.506 283276 chr19 19017896 19017896 G A COPE Stop gain R106X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 283277 chr4 151770608 151770608 A C LRBA Nonsynonymous SNV I1375R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 283278 chr4 152571422 152571422 C T rs372644849 FAM160A1 Synonymous SNV A743A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.52 283279 chr9 140136988 140136988 C T rs368833967 TUBB4B Synonymous SNV Y106Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.22 283280 chr19 58564809 58564809 G A rs149388605 ZSCAN1 Nonsynonymous SNV R206H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.28 283281 chr19 6165960 6165960 C T rs775225000 ACSBG2 Synonymous SNV C224C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.011 283282 chr19 50386992 50386992 C T TBC1D17 Synonymous SNV R339R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 283283 chr19 746526 746526 C T rs140567840 PALM Synonymous SNV P248P 0 0 0.007 0 0 0 0 2 0 0 0 0 17.59 283284 chr19 7527126 7527126 C T rs200804761 ARHGEF18 Synonymous SNV L605L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.78 283285 chr9 13143468 13143468 G T MPDZ Nonsynonymous SNV D1279E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 283286 chr19 2877329 2877329 A C ZNF556 Nonsynonymous SNV T124P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 283287 chr19 51052088 51052088 C T rs757301098 LRRC4B Nonsynonymous SNV R3H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 283288 chr19 7706950 7706950 C T rs113694233 STXBP2 Synonymous SNV H200H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 7.954 283289 chr19 51206778 51206778 C T SHANK1 Nonsynonymous SNV R511K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 283290 chr12 97087502 97087502 T A CFAP54 Synonymous SNV V2089V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.923 283291 chr10 64967622 64967622 T C rs527526754 JMJD1C Synonymous SNV E1050E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 283292 chr9 19341089 19341089 C A DENND4C Nonsynonymous SNV T945N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 283293 chr19 8322805 8322805 G A rs149089779 CERS4 Nonsynonymous SNV D262N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.241 283294 chr19 33882259 33882259 G A rs200183031 PEPD Nonsynonymous SNV P324L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 32 283295 chr10 70253223 70253223 T G rs766301194 SLC25A16 Nonsynonymous SNV K42Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 283296 chr19 35249976 35249976 G A rs375653236 ZNF599 Nonsynonymous SNV S577L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 283297 chr10 29811392 29811392 C A rs146267453 SVIL Synonymous SNV P686P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 283298 chr19 36247835 36247835 G A rs182616636 HSPB6 Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 283299 chr19 36277957 36277957 G A rs141321338 ARHGAP33 Nonsynonymous SNV G726E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 283300 chr19 36290984 36290984 G A rs138295402 PRODH2 Synonymous SNV L523L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.079 283301 chr19 36612582 36612582 C T rs753188537 TBCB Nonsynonymous SNV A170V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 283302 chr2 42950132 42950132 C A rs757576736 MTA3 Nonsynonymous SNV S508R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 283303 chr19 371250 371250 G A rs61731232 THEG Synonymous SNV A212A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.268 283304 chr19 9086358 9086358 T G rs375020979 MUC16 Synonymous SNV P1819P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.202 283305 chr10 90521262 90521262 A G LIPN Nonsynonymous SNV M34V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 283306 chr19 38682824 38682824 G A rs181032291 SIPA1L3 Synonymous SNV P1490P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.523 283307 chr1 101186093 101186093 C T rs530907083 VCAM1 Synonymous SNV S42S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 283308 chr2 55804460 55804460 T C rs376675177 PPP4R3B Nonsynonymous SNV I501V 0.003 0 0 0 3 0 0 0 0 0 0 0 7.84 283309 chr19 39086344 39086344 C T MAP4K1 Synonymous SNV E735E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 283310 chr1 109445852 109445852 G A rs145339242 GPSM2 Nonsynonymous SNV R353K 0 0 0.007 0 0 0 0 2 0 0 0 0 16.88 283311 chr19 39993668 39993668 C A rs772960131 DLL3 Nonsynonymous SNV A208E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.157 283312 chr19 39993669 39993669 A C rs746558629 DLL3 Synonymous SNV A208A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 283313 chr10 70332303 70332303 G A rs770143538 TET1 Nonsynonymous SNV V70I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 283314 chr19 40366374 40366374 G A rs2053089 FCGBP Synonymous SNV P4620P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.17 283315 chr1 113460026 113460026 C T rs114731222 SLC16A1 Synonymous SNV A334A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 9.305 283316 chr10 101464343 101464343 G A rs61738520 ENTPD7 Nonsynonymous SNV R573H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 283317 chr10 101611318 101611318 A C rs533470370 ABCC2 Nonsynonymous SNV Q1523P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.227 283318 chr19 41754671 41754671 G A rs770071458 AXL Nonsynonymous SNV G285S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 283319 chr1 117529451 117529451 G T rs151162899 PTGFRN Synonymous SNV L834L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.45 283320 chr1 117552727 117552727 A G rs138899446 CD101 Nonsynonymous SNV Q100R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 283321 chr1 117556353 117556353 C T rs74876983 CD101 Synonymous SNV S389S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.87 283322 chr10 102257434 102257434 G A rs760589022 SEC31B Synonymous SNV P660P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.83 283323 chr10 73103969 73103969 T C rs77339410 SLC29A3 Nonsynonymous SNV Y102H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 24.9 283324 chr1 118476052 118476052 G A rs200209712 WDR3 Nonsynonymous SNV R37H 0 0 0.007 0 0 0 0 2 0 0 0 0 34 283325 chr10 73578838 73578838 C T rs138716613 PSAP Nonsynonymous SNV V463M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.33 283326 chr19 54304570 54304570 C A rs747630531 NLRP12 Synonymous SNV L890L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.89 283327 chr9 113704014 113704014 G A rs777368557 LPAR1 Synonymous SNV S160S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.334 283328 chr9 116832021 116832021 T C rs374119174 AMBP Synonymous SNV E187E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.446 283329 chr13 77631154 77631154 T A rs779979727 MYCBP2 Synonymous SNV I4468I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 283330 chr9 116930898 116930898 C T rs766660251 COL27A1 Nonsynonymous SNV P355S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.321 283331 chr1 1500202 1500202 T C rs774979291 SSU72 Nonsynonymous SNV T59A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 283332 chr14 101005031 101005031 T G BEGAIN Nonsynonymous SNV T353P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 283333 chr10 95537193 95537193 A G rs151104648 LGI1 Synonymous SNV P115P 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.209 283334 chr19 4511632 4511632 A G rs369867902 PLIN4 Synonymous SNV T780T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 283335 chr10 123846252 123846252 G A rs201709460 TACC2 Nonsynonymous SNV A1413T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.2 283336 chr19 45321856 45321856 G A rs138302587 BCAM Nonsynonymous SNV V386M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 283337 chr8 104955109 104955109 C G rs202000083 RIMS2 Nonsynonymous SNV P725A 0.002 0 0 0 2 0 0 0 0 0 0 0 15.91 283338 chr1 153994684 153994684 T C rs190395941 NUP210L Synonymous SNV V1478V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.345 283339 chr5 94918870 94918870 A G rs142353298 ARSK Nonsynonymous SNV T223A 0.002 0 0 1 2 0 0.003 0 0 0 0 0 26.6 283340 chr10 104445720 104445720 A G ARL3 Synonymous SNV C118C 0 0.003 0 0 0 1 0 0 0 0 0 0 2.797 283341 chr19 48806307 48806307 T G rs745662455 CCDC114 Nonsynonymous SNV N308T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 283342 chr10 135197680 135197680 G A rs3747879 PAOX Nonsynonymous SNV R362Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 283343 chr10 106057384 106057384 A G GSTO2 Nonsynonymous SNV M111V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 283344 chr10 106974254 106974254 C T rs752984608 SORCS3 Synonymous SNV T810T 0 0.003 0 0 0 1 0 0 0 0 0 0 14 283345 chr19 49969006 49969006 C G rs150414818 ALDH16A1 Nonsynonymous SNV P476R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 283346 chr11 558912 558912 C T rs138697295 LMNTD2 Synonymous SNV T34T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.949 283347 chr1 15911383 15911383 T C AGMAT Nonsynonymous SNV H27R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 283348 chr1 15987116 15987116 C T rs779568107 RSC1A1 Synonymous SNV I251I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 283349 chr19 6836548 6836548 C T rs745565957 VAV1 Nonsynonymous SNV T596M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 283350 chr1 161137859 161137859 G A rs767419411 PPOX Nonsynonymous SNV R138Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23 283351 chr10 122334776 122334776 C T rs371313306 PLPP4 Nonsynonymous SNV P152S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.69 283352 chr11 1016950 1016950 C T rs779355790 MUC6 Nonsynonymous SNV V1951M 0.002 0 0 0 2 0 0 0 0 0 0 0 13.72 283353 chr11 1016951 1016951 A G rs753086319 MUC6 Synonymous SNV P1950P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 283354 chr11 1016954 1016954 G T rs747135109 MUC6 Synonymous SNV T1949T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.225 283355 chr10 126683173 126683173 A C rs765066393 CTBP2 Nonsynonymous SNV D283E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.75 283356 chr1 176525848 176525848 A G rs377582355 PAPPA2 Synonymous SNV V130V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.569 283357 chr10 135097386 135097386 G A rs370991365 TUBGCP2 Synonymous SNV S585S 0 0.005 0 0 0 2 0 0 0 0 0 0 11.46 283358 chr1 111217163 111217163 G A rs749760182 KCNA3 Nonsynonymous SNV P90L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 283359 chr1 180153070 180153070 T C rs377358722 QSOX1 Nonsynonymous SNV F258L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 283360 chr19 54393252 54393252 A G PRKCG Synonymous SNV A170A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.044 283361 chr10 135342111 135342111 G T CYP2E1 Nonsynonymous SNV D102Y 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 283362 chr19 54966702 54966702 C T rs115738897 LENG8 Synonymous SNV D327D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 283363 chr19 54973451 54973451 C T rs114196206 LENG9 Nonsynonymous SNV G442E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 283364 chr19 54976645 54976645 G A rs201220343 CDC42EP5 Synonymous SNV D29D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.241 283365 chr14 65270472 65270472 G A rs746046089 SPTB Synonymous SNV R109R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.46 283366 chr5 156378595 156378595 T C rs755886077 TIMD4 Nonsynonymous SNV S203G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.119 283367 chr1 19493649 19493649 C T rs749896519 UBR4 Nonsynonymous SNV V1326I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 283368 chr19 55711750 55711750 C T PTPRH Nonsynonymous SNV G247E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.014 283369 chr1 196227468 196227468 T C KCNT2 Nonsynonymous SNV R999G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 283370 chr1 118550764 118550764 C T rs370369450 SPAG17 Nonsynonymous SNV R1497H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.917 283371 chr9 35609159 35609159 G A rs776987480 TESK1 Nonsynonymous SNV R274H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.4 283372 chr19 56424305 56424305 T C rs149164646 NLRP13 Nonsynonymous SNV D293G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 283373 chr2 202606467 202606467 G - ALS2 H761Mfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 283374 chr2 202606468 202606468 A C ALS2 Synonymous SNV L760L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.939 283375 chr2 203972816 203972816 G T NBEAL1 Synonymous SNV G589G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.045 283376 chr1 151262200 151262200 C T rs41270700 ZNF687 Nonsynonymous SNV A894V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.04 283377 chr1 111060606 111060606 G A rs142311370 KCNA10 Synonymous SNV T268T 0.003 0 0 0 3 0 0 0 1 0 0 0 6.485 283378 chr5 176893975 176893975 C T DBN1 Nonsynonymous SNV R215Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 283379 chr19 57286644 57286644 A G rs200715219 ZIM2 Synonymous SNV F332F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.634 283380 chr19 5748188 5748188 G A rs73920054 CATSPERD Nonsynonymous SNV V276I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.828 283381 chr19 58190057 58190057 C T ZSCAN4 Synonymous SNV H362H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.86 283382 chr11 1095207 1095207 C T MUC2 Synonymous SNV F2009F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.96 283383 chr11 1102120 1102120 G A rs776041994 MUC2 Nonsynonymous SNV V2586M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.41 283384 chr1 153915605 153915605 C T rs201817268 DENND4B Nonsynonymous SNV V118M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 283385 chr19 58805496 58805496 C T rs141665519 ZNF8 Nonsynonymous SNV R108C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.02 283386 chr2 217559315 217559315 C T IGFBP5 Nonsynonymous SNV A62T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.83 283387 chr1 155650229 155650229 A G rs369037860 YY1AP1 Nonsynonymous SNV L138P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 283388 chr1 214170061 214170061 T C rs148422967 PROX1 Synonymous SNV H61H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.015 283389 chr11 6262777 6262777 G A rs61740240 CNGA4 Nonsynonymous SNV R345Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.91 283390 chr10 62631304 62631304 G A rs769684346 RHOBTB1 Nonsynonymous SNV A556V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 283391 chr1 156182851 156182851 A G rs369050130 PMF1, PMF1-BGLAP Synonymous SNV E15E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.754 283392 chr11 6977334 6977334 A G rs2239729 ZNF215 Nonsynonymous SNV M138V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 283393 chr1 22154584 22154584 G T HSPG2 Synonymous SNV G4158G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 283394 chr11 3239617 3239617 C T MRGPRG Nonsynonymous SNV A143T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.62 283395 chr11 3700809 3700809 A G rs138664271 NUP98 Nonsynonymous SNV I1636T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 283396 chr2 223169028 223169028 T C CCDC140 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 283397 chr11 7981984 7981984 A G NLRP10 Nonsynonymous SNV F392S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 283398 chr19 7616247 7616247 G C rs606231249 PNPLA6 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23 283399 chr6 26156632 26156632 C T rs770963016 H1-4 Nonsynonymous SNV A5V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 283400 chr11 13749121 13749121 C T FAR1 Nonsynonymous SNV R426W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 283401 chr2 232577519 232577519 C T rs1804250 PTMA Synonymous SNV D98D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.187 283402 chr1 228555644 228555644 C T rs896416025 OBSCN Synonymous SNV A6562A 0 0 0.007 0 0 0 0 2 0 0 0 0 19.24 283403 chr6 34004357 34004357 C A rs374987528 GRM4 Synonymous SNV G394G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.22 283404 chr1 235964293 235964293 T C LYST Nonsynonymous SNV M1273V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.607 283405 chr2 238259830 238259830 G A rs375134458 COL6A3 Synonymous SNV S1646S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.349 283406 chr1 238050119 238050119 T A rs143729211 ZP4 Nonsynonymous SNV D264V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 283407 chr1 24105128 24105128 A G rs562148184 PITHD1 Synonymous SNV Q41Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.888 283408 chr1 243507571 243507571 G A SDCCAG8 Nonsynonymous SNV A373T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 283409 chr1 24390613 24390613 C - rs540934238 MYOM3 V1191Ffs*37 0 0 0.003 0 0 0 0 1 0 0 0 0 283410 chr1 247201195 247201195 T C rs753249219 ZNF670 Synonymous SNV Q241Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 283411 chr11 46831388 46831388 T G rs762405829 CKAP5 Nonsynonymous SNV T223P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 283412 chr1 111741325 111741325 G A rs549444383 DENND2D Nonsynonymous SNV R92W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 283413 chr11 17408887 17408887 A G KCNJ11 Nonsynonymous SNV L251P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 283414 chr1 29189758 29189758 C G OPRD1 Nonsynonymous SNV T361S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.98 283415 chr11 17426151 17426151 G C rs368044193 ABCC8 Synonymous SNV V1155V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.32 283416 chr1 32646108 32646108 G A rs767986909 TXLNA Synonymous SNV K54K 0 0 0.007 0 0 0 0 2 0 0 0 0 14.52 283417 chr10 129216763 129216763 C T rs61733304 DOCK1 Synonymous SNV I1550I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 283418 chr1 3418422 3418422 C G MEGF6 Nonsynonymous SNV C751S 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 283419 chr1 197390386 197390386 C T rs62636282 CRB1 Synonymous SNV T364T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.63 283420 chr1 35250930 35250930 C T rs61732307 GJB3 Synonymous SNV Y189Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.207 283421 chr1 35260586 35260586 C T rs28739284 GJA4 Nonsynonymous SNV P258S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.409 283422 chr11 22881004 22881004 C T CCDC179 Synonymous SNV E28E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.901 283423 chr11 31099428 31099428 C A rs376600706 DCDC1 Nonsynonymous SNV G761V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 283424 chr1 150131399 150131399 A G rs782593823 PLEKHO1 Nonsynonymous SNV Q132R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.083 283425 chr1 150526360 150526360 G A rs768459004 ADAMTSL4 Nonsynonymous SNV R298H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 283426 chr1 150936128 150936128 C T rs764341148 SETDB1 Nonsynonymous SNV R1194C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 283427 chr11 45939284 45939284 T A PEX16 Nonsynonymous SNV T27S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 283428 chr1 50884797 50884797 G A DMRTA2 Nonsynonymous SNV A390V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.07 283429 chr1 52830241 52830241 C T rs147211573 CC2D1B Nonsynonymous SNV V18M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 283430 chr6 116574876 116574876 C G TSPYL4 Nonsynonymous SNV G99A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.182 283431 chr10 21120144 21120144 G A rs191012363 NEBL Nonsynonymous SNV T551I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.4 283432 chr1 53559198 53559198 G T rs141148882 SLC1A7 Synonymous SNV A172A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.901 283433 chr10 27329099 27329099 T G rs141748831 ANKRD26 Nonsynonymous SNV S723R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.2 283434 chr1 156504308 156504308 G A rs147048069 IQGAP3 Nonsynonymous SNV T1242I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 283435 chr11 62297958 62297958 A G AHNAK Nonsynonymous SNV F1311L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 283436 chr11 62297977 62297977 T C rs781259787 AHNAK Synonymous SNV G1304G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 283437 chr11 62297983 62297983 C T rs775437833 AHNAK Synonymous SNV P1302P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.914 283438 chr11 62297986 62297986 G A AHNAK Synonymous SNV G1301G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 283439 chr11 62297989 62297989 C T AHNAK Synonymous SNV E1300E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 283440 chr1 60133064 60133064 C T rs370260097 FGGY Nonsynonymous SNV A170V 0 0 0.007 0 0 0 0 2 0 0 0 0 27.4 283441 chr1 63307109 63307109 G A rs201027291 ATG4C Nonsynonymous SNV C367Y 0 0 0.007 0 0 0 0 2 0 0 0 0 30 283442 chr1 65831594 65831594 C G rs777685662 DNAJC6 Nonsynonymous SNV T124S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.26 283443 chr1 160160751 160160751 C T CASQ1 Synonymous SNV L70L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 283444 chr1 67390440 67390440 T C WDR78 Synonymous SNV R25R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.061 283445 chr1 67793916 67793916 G A rs770680638 IL12RB2 Synonymous SNV K171K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 283446 chr1 161068705 161068705 - C rs761803466 KLHDC9 Frameshift insertion A130Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 283447 chr1 163317690 163317690 G A rs147464307 NUF2 Synonymous SNV K362K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.191 283448 chr1 165649854 165649854 T C rs377384593 ALDH9A1 Nonsynonymous SNV Y220C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 283449 chr3 77607267 77607267 A G ROBO2 Synonymous SNV Q468Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 283450 chr11 68704317 68704317 G A rs147038490 IGHMBP2 Nonsynonymous SNV R790Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.259 283451 chr3 81699035 81699035 C T rs374404487 GBE1 Nonsynonymous SNV R156H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 283452 chr11 70336415 70336415 G T SHANK2 Synonymous SNV I251I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 283453 chr1 906269 906269 C T rs199667863 PLEKHN1 Synonymous SNV P165P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 283454 chr1 171510707 171510707 C G rs148501478 PRRC2C Nonsynonymous SNV R1366G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 283455 chr1 94471055 94471055 C T rs61750641 ABCA4 Nonsynonymous SNV R2030Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 34 283456 chr11 59480942 59480942 G A rs772978291 OR10V1 Nonsynonymous SNV A126V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 283457 chr20 18037313 18037313 T A rs199626763 OVOL2 Nonsynonymous SNV R103S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 283458 chr11 94335018 94335018 A T PIWIL4 Nonsynonymous SNV N480Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 283459 chr11 62606654 62606654 G A WDR74 Synonymous SNV G75G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.33 283460 chr1 185125666 185125666 G A rs750224358 TRMT1L Nonsynonymous SNV A60V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 283461 chr16 3614238 3614238 C T rs373777098 NLRC3 Nonsynonymous SNV V234M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 283462 chr16 3652236 3652236 C T rs201192909 SLX4 Nonsynonymous SNV R278Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.095 283463 chr20 23345805 23345805 A G rs889688504 GZF1 Nonsynonymous SNV Q262R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 283464 chr11 63486933 63486933 C T RTN3 Nonsynonymous SNV A208V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 283465 chr11 63766485 63766485 C T MACROD1 Synonymous SNV V305V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.3 283466 chr16 5097938 5097938 G C rs369255385 C16orf89 Nonsynonymous SNV A299G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.638 283467 chr11 112085489 112085489 G A BCO2 Stop gain W373X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 283468 chr11 113265693 113265693 C T rs373295480 ANKK1 Nonsynonymous SNV R175W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 283469 chr11 117299325 117299325 G A DSCAML1 Nonsynonymous SNV P1961S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.258 283470 chr20 37536456 37536456 C T rs148800340 PPP1R16B Synonymous SNV C260C 0 0 0.007 0 0 0 0 2 0 0 0 0 14.91 283471 chr20 39766548 39766548 G A rs753682992 PLCG1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.306 283472 chr1 203767374 203767374 G C rs571802658 ZBED6 Nonsynonymous SNV A242P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 283473 chr11 118926028 118926028 C G rs145661123 HYOU1 Synonymous SNV T96T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.53 283474 chr11 119064574 119064574 C T rs745767695 CCDC153 Nonsynonymous SNV R53H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 283475 chr16 66881090 66881090 C T rs149281889 CA7 Synonymous SNV H10H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.06 283476 chr11 119547885 119547885 G C NECTIN1 Nonsynonymous SNV L260V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 283477 chr11 68115514 68115514 C T rs146667935 LRP5 Synonymous SNV A97A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11 283478 chr11 13031930 13031930 G A rs560159485 RASSF10 Synonymous SNV G269G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.477 283479 chr1 206319153 206319153 T C CTSE Nonsynonymous SNV V18A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 283480 chr11 121174274 121174274 A G rs199546863 SC5D Nonsynonymous SNV K64E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 283481 chr20 50273594 50273594 G A rs144683002 ATP9A Synonymous SNV I463I 0.001 0 0.014 0 1 0 0 4 0 0 0 0 12.44 283482 chr11 76826497 76826497 C T rs369762721 CAPN5 Synonymous SNV H252H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.63 283483 chr20 57564966 57564966 C T rs778671462 NELFCD Synonymous SNV S237S 0 0 0.007 0 0 0 0 2 0 0 0 0 20.2 283484 chr16 72130111 72130111 G A rs145829337 DHX38 Nonsynonymous SNV D19N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.66 283485 chr11 77884904 77884904 T G rs759951749 KCTD21 Nonsynonymous SNV S233R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 283486 chr3 179418812 179418812 C T rs747792007 USP13 Synonymous SNV D124D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 283487 chr7 65705442 65705442 A G rs138185296 TPST1 Synonymous SNV L10L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.848 283488 chr11 86126207 86126207 G A rs760418118 CCDC81 Nonsynonymous SNV G425S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 283489 chr11 44254032 44254032 G A EXT2 Nonsynonymous SNV A631T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 283490 chr7 77569473 77569473 T A PHTF2 Nonsynonymous SNV S421T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 283491 chr12 1219378 1219378 G A rs747421629 ERC1 Nonsynonymous SNV M394I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 283492 chr12 6632005 6632005 G A NCAPD2 Nonsynonymous SNV V656M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 283493 chr12 6638123 6638123 T G NCAPD2 Nonsynonymous SNV Y1164D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 283494 chr1 228486374 228486374 G A rs763675315 OBSCN Nonsynonymous SNV C4389Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 283495 chr21 27284116 27284116 C T rs776739799 APP Nonsynonymous SNV D485N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 283496 chr7 96635363 96635363 - GCA DLX6 Q44_P45insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 283497 chr7 97823004 97823004 C T rs201560033 LMTK2 Nonsynonymous SNV S1076L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 283498 chr12 7527483 7527483 T G CD163L1 Nonsynonymous SNV N1023T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 283499 chr1 34330045 34330045 C T rs143319004 HMGB4 Nonsynonymous SNV R11W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 283500 chr21 32526716 32526716 C T rs77092908 TIAM1 Nonsynonymous SNV R40H 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 283501 chr1 230386269 230386269 C T rs145315149 GALNT2 Synonymous SNV Y286Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 283502 chr21 33975516 33975516 G A rs759913057 C21orf59-TCP10L, CFAP298 Synonymous SNV Y108Y 0 0 0.007 0 0 0 0 2 0 0 0 0 11.87 283503 chr21 35144540 35144540 A G rs201073854 ITSN1 Synonymous SNV Q406Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.652 283504 chr4 1347163 1347163 G T UVSSA Nonsynonymous SNV G299V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.042 283505 chr1 39913382 39913382 A G MACF1 Nonsynonymous SNV N4535D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 283506 chr21 38560772 38560772 A G rs368530299 TTC3-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.266 283507 chr21 38567985 38567985 G A rs138008526 TTC3 Nonsynonymous SNV E1021K 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.022 283508 chr11 118242324 118242324 A G rs145949976 UBE4A Synonymous SNV A168A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.08 283509 chr16 89254538 89254538 G A rs774650059 CDH15 Nonsynonymous SNV G275R 0 0 0 1 0 0 0.003 0 0 0 0 0 23 283510 chr21 42824583 42824585 AGA - rs748158915 MX1 E516del 0 0 0.003 0 0 0 0 1 0 0 0 0 283511 chr4 2951995 2951995 C T rs951515454 NOP14-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 5.502 283512 chr12 12318150 12318150 C T rs139800650 LRP6 Nonsynonymous SNV G542D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 283513 chr21 45076606 45076606 T C rs376508734 HSF2BP Nonsynonymous SNV K17E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 283514 chr4 6864556 6864556 A C rs200779052 KIAA0232 Nonsynonymous SNV H816P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 283515 chr11 123989334 123989334 C G VWA5A Synonymous SNV S188S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 283516 chr1 245850936 245850936 G A KIF26B Nonsynonymous SNV D1551N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 283517 chr21 46117380 46117380 T C rs370407460 KRTAP10-12 Synonymous SNV S88S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.008 283518 chr21 46596459 46596459 G A rs61735851 ADARB1 Synonymous SNV K330K 0 0 0.007 0 0 0 0 2 0 0 0 0 9.171 283519 chr21 47704530 47704530 G A rs768052088 MCM3AP Nonsynonymous SNV P224L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 283520 chr1 52902480 52902480 C T rs141484128 TUT4 Nonsynonymous SNV R1370Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 283521 chr1 53544683 53544683 G A rs370203470 PODN Nonsynonymous SNV A501T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.802 283522 chr11 126144859 126144859 C G rs187124232 FOXRED1 Nonsynonymous SNV Q192E 0 0.005 0 0 0 2 0 0 0 0 0 0 18.19 283523 chr1 54610211 54610211 G A rs753752686 CDCP2 Nonsynonymous SNV H119Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 283524 chr22 19789572 19789572 C A rs767099084 GNB1L Synonymous SNV A228A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 283525 chr7 107880403 107880403 G A NRCAM Nonsynonymous SNV P36S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.48 283526 chr7 111846171 111846171 T G rs200528090 DOCK4 Nonsynonymous SNV E8A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.33 283527 chr22 20780039 20780065 GGGCCCTGGGCGGCGAGGGCGCAGCGA - SCARF2 L738_C870delinsRARPRPGLLEPTDAGGPPRSAPRLPPCWPLTCAARLAAWAAPRWPWARRAPGKSRRPHRKPSAPCRQPRPPARPQRPKPRGLRRRRPTCPRLRPPGRRPPSRSRRARRAGRRRASWAGRAHPPCSRLWLVRAQLPQLRSAARHPTPPTLPGTGGLLLAGHRAASGGCVSLAQVLQPLLDWSSVLWREGPIPLVEA* 0 0 0.003 0 0 0 0 1 0 0 0 0 283528 chr12 665730 665730 G A rs142955460 B4GALNT3 Nonsynonymous SNV R693H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 283529 chr22 22328768 22328768 T C TOP3B Nonsynonymous SNV T55A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 283530 chr1 908322 908322 C T rs779526083 PLEKHN1 Nonsynonymous SNV R374C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 283531 chr7 135418959 135418959 C A rs3112374 FAM180A Nonsynonymous SNV V96F 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 283532 chr1 32150183 32150183 G A rs201165083 COL16A1 Nonsynonymous SNV R701W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 283533 chr22 30771774 30771774 G A rs79002344 KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 283534 chr17 26912164 26912164 G C rs113401515 SPAG5 Nonsynonymous SNV Q675E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.32 283535 chr7 138603328 138603328 C T rs757468687 KIAA1549 Synonymous SNV S348S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.16 283536 chr17 27027491 27027491 C T rs113506234 SUPT6H Synonymous SNV Y1589Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.75 283537 chr17 27043081 27043081 T C rs543582207 RAB34 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 283538 chr17 27051596 27051596 G T rs111819682 TLCD1 Nonsynonymous SNV L179I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 283539 chr12 52913972 52913972 G T rs370714132 KRT5 Synonymous SNV R37R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 283540 chr22 31738928 31738928 T C rs146029538 PATZ1 Synonymous SNV G430G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.718 283541 chr22 31740449 31740449 C T rs144683804 PATZ1 Synonymous SNV E380E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 283542 chr17 27893360 27893360 A C ABHD15 Nonsynonymous SNV F209V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 283543 chr1 36929437 36929437 C T rs376657771 MRPS15 Nonsynonymous SNV A49T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 283544 chr12 53227771 53227771 T C KRT79 Nonsynonymous SNV S92G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 283545 chr1 89599106 89599106 T C rs769494068 GBP7 Synonymous SNV E499E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.228 283546 chr1 41483159 41483159 G A rs554039628 SLFNL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.472 283547 chr17 35310234 35310234 G A rs140132823 AATF Nonsynonymous SNV G111E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 283548 chr22 42606991 42606991 C T rs147643985 TCF20 Nonsynonymous SNV V1441M 0 0 0.01 0 0 0 0 3 0 0 0 0 18.76 283549 chr22 43032765 43032765 C T rs535941974 CYB5R3 Nonsynonymous SNV E37K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.39 283550 chr12 57390151 57390151 C T GPR182 Synonymous SNV H386H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.666 283551 chr12 27127031 27127031 C T rs200978035 TM7SF3 Nonsynonymous SNV R527Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 283552 chr1 95332917 95332917 C T rs372064137 SLC44A3 Stop gain R440X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 283553 chr22 45258233 45258233 T G rs200531866 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV S354A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 283554 chr20 3146929 3146929 G A rs138764263 LZTS3 Synonymous SNV C179C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.945 283555 chr22 45683200 45683200 T C rs150598171 UPK3A Nonsynonymous SNV I119T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.295 283556 chr12 63131306 63131306 C T rs370367276 PPM1H Synonymous SNV T310T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 283557 chr22 45683309 45683309 C T rs62001037 UPK3A Synonymous SNV P155P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.46 283558 chr12 66532542 66532542 C A rs749507223 TMBIM4 Nonsynonymous SNV A127S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 283559 chr22 46499106 46499106 C T rs78060012 MIRLET7BHG 0 0 0.003 0 0 0 0 1 0 0 0 0 7.78 283560 chr22 46656055 46656055 T C PKDREJ Synonymous SNV V1055V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.152 283561 chr12 46591783 46591783 C T rs114226133 SLC38A1 Nonsynonymous SNV V395M 0 0.003 0 0 0 1 0 0 0 0 0 0 3.554 283562 chr12 80201093 80201093 C T rs202164787 PPP1R12A Nonsynonymous SNV R436Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 283563 chr12 49426818 49426818 G A rs376471354 KMT2D Synonymous SNV S3890S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.452 283564 chr22 50721188 50721188 C T rs79500228 PLXNB2 Nonsynonymous SNV R980H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 283565 chr12 96292356 96292356 C A rs200003296 CCDC38 Nonsynonymous SNV A175S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 283566 chr1 62190696 62190696 A C rs759894256 TM2D1 Nonsynonymous SNV W33G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 283567 chr22 50964229 50964229 G A rs752028751 TYMP Synonymous SNV F473F 0 0 0.007 0 0 0 0 2 0 0 0 0 13.54 283568 chr12 97073419 97073419 G A rs776062493 CFAP54 Nonsynonymous SNV V1869M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 283569 chr12 99898397 99898397 T C rs774469792 ANKS1B Nonsynonymous SNV N432S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.881 283570 chr12 52636813 52636813 C T rs765989608 KRT7 Synonymous SNV A292A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.71 283571 chr20 2797465 2797465 C T rs187019119 TMEM239 Synonymous SNV L89L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 283572 chr20 31547884 31547884 G C rs772979488 EFCAB8 Nonsynonymous SNV G1104R 0.002 0 0 0 2 0 0 0 0 0 0 0 23 283573 chr12 108012027 108012027 C T rs371455377 BTBD11 Nonsynonymous SNV A312V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 283574 chr2 110922712 110922712 T G rs760469889 NPHP1 Nonsynonymous SNV E153D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.167 283575 chr2 110922713 110922713 T C rs766111597 NPHP1 Nonsynonymous SNV E153G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.329 283576 chr12 110028617 110028617 C G MVK Nonsynonymous SNV P188R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 283577 chr12 53776776 53776776 A T SP1 Nonsynonymous SNV T301S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 283578 chr12 110983690 110983690 G A rs199629010 PPTC7 Synonymous SNV S199S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 283579 chr20 33586418 33586420 GAG - MYH7B E1371del 0.002 0 0 0 2 0 0 0 0 0 0 0 283580 chr20 35689614 35689614 T G rs764672063 RBL1 Nonsynonymous SNV E381A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 283581 chr1 77334276 77334276 - GCA rs764995715 ST6GALNAC5 Q49_A50insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 283582 chr11 111951193 111951193 T G rs770491300 NKAPD1 Nonsynonymous SNV N77K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.266 283583 chr1 85040091 85040091 C T rs1054563254 CTBS Nonsynonymous SNV R3Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.204 283584 chr20 3845297 3845297 G T MAVS Synonymous SNV A199A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 283585 chr11 113561583 113561583 C T rs868666039 TMPRSS5 Nonsynonymous SNV G235D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 283586 chr1 86919261 86919261 G A rs374940896 CLCA2 Nonsynonymous SNV G789R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 283587 chr12 122064899 122064899 C T rs782598281 ORAI1 Synonymous SNV S84S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 283588 chr20 60922038 60922038 G A rs750776342 LAMA5 Nonsynonymous SNV R335C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 283589 chr12 58090097 58090097 A G rs760399120 OS9 Nonsynonymous SNV T115A 0 0.005 0 0 0 2 0 0 0 0 0 0 16.44 283590 chr12 122359542 122359542 G T rs199671406 WDR66 Stop gain E111X 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 29.9 283591 chr11 117299303 117299303 G A rs774575847 DSCAML1 Nonsynonymous SNV T1968I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 283592 chr12 124971106 124971106 C G rs748657853 NCOR2 Synonymous SNV G38G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 283593 chr12 124971112 124971112 G A rs371190775 NCOR2 Synonymous SNV D36D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 283594 chr20 48124465 48124465 G A rs372248049 PTGIS Nonsynonymous SNV R499C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 283595 chr12 72300836 72300836 G A rs757841042 TBC1D15 Synonymous SNV K406K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 283596 chr12 125591695 125591695 G A rs139116253 AACS Nonsynonymous SNV G266S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 283597 chr12 81043400 81043400 T C rs932854289 PTPRQ Synonymous SNV V1820V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.087 283598 chr12 133360693 133360693 T G GOLGA3 Synonymous SNV G1108G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.699 283599 chr12 133373231 133373231 A G rs559973337 GOLGA3 Nonsynonymous SNV M665T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 283600 chr2 168107844 168107844 G A rs369325081 XIRP2 Synonymous SNV A3092A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.605 283601 chr2 170042416 170042416 G T rs776178253 LRP2 Synonymous SNV R3148R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.05 283602 chr13 21562956 21562956 G T LATS2 Synonymous SNV A321A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.314 283603 chr21 33706477 33706477 G T rs566568618 URB1 Nonsynonymous SNV P1618T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 283604 chr2 170938253 170938253 A T rs757014503 UBR3 Nonsynonymous SNV Y1856F 0 0 0.007 0 0 0 0 2 0 0 0 0 17.99 283605 chr11 124745889 124745889 C G rs756147382 ROBO3 Nonsynonymous SNV R821G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 283606 chr21 35191589 35191589 T C ITSN1 Nonsynonymous SNV V988A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.81 283607 chr12 102067360 102067360 C T rs764582007 MYBPC1 Synonymous SNV D872D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.5 283608 chr12 102069125 102069125 C T rs200340651 MYBPC1 Synonymous SNV V904V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 283609 chr20 18790659 18790659 G C C20orf78 0.001 0 0 0 1 0 0 0 0 0 0 0 1.685 283610 chr2 179475004 179475004 G T rs377342233 TTN Synonymous SNV V8018V 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 6.697 283611 chr12 112457654 112457654 C T rs200713981 ERP29 Nonsynonymous SNV S80L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 283612 chr13 40175136 40175136 G A rs200931835 LHFPL6 Nonsynonymous SNV S73F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 283613 chr8 121554146 121554146 C G rs771993965 SNTB1 Nonsynonymous SNV K476N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.19 283614 chr13 50586883 50586883 C T rs752385401 TRIM13 Synonymous SNV P269P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.931 283615 chr5 68400476 68400476 C G SLC30A5 Nonsynonymous SNV H98D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 283616 chr2 202483629 202483629 C G C2CD6 Synonymous SNV L75L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.689 283617 chr13 96579506 96579506 G A rs775927655 UGGT2 Nonsynonymous SNV R688C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 283618 chr20 36954674 36954674 A C rs775959420 BPI Nonsynonymous SNV K334T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.878 283619 chr20 39652431 39652431 C T rs144259645 LOC100128988 0.001 0 0 0 1 0 0 0 0 0 0 0 1.256 283620 chr20 39797678 39797678 C T rs201141606 MIR6871 0.001 0 0 0 1 0 0 0 0 0 0 0 1.071 283621 chr20 39802851 39802851 G A rs144676152 PLCG1 Nonsynonymous SNV A1245T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 283622 chr20 39974514 39974514 C T rs201526389 LPIN3 Nonsynonymous SNV P24L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 283623 chr20 42310478 42310478 C G MYBL2 Nonsynonymous SNV L57V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 283624 chr20 42635310 42635310 C G rs770814214 TOX2 Nonsynonymous SNV H55D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 283625 chr2 21228969 21228969 G T APOB Nonsynonymous SNV L3591I 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 283626 chr21 43414155 43414157 AGG - ZBTB21 L17del 0.001 0 0 0 1 0 0 0 0 0 0 0 283627 chr21 45504041 45504041 C T rs370375676 TRAPPC10 Synonymous SNV C292C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.95 283628 chr22 27584949 27584949 G T LOC105372977 Nonsynonymous SNV G53C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.162 283629 chr9 4849541 4849541 C G rs780424429 RCL1 Nonsynonymous SNV S135C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 283630 chr13 37393548 37393548 G T rs770791539 RFXAP Synonymous SNV V18V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.639 283631 chr9 5811257 5811257 T C rs140094646 ERMP1 Nonsynonymous SNV Y394C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.4 283632 chr2 227872865 227872865 G A rs200973262 COL4A4 Nonsynonymous SNV R1560C 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 23.5 283633 chr13 39266011 39266011 A G rs139470655 FREM2 Synonymous SNV Q1510Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 283634 chr5 113831667 113831667 C T rs774239362 KCNN2 Synonymous SNV L162L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.35 283635 chr20 60887808 60887808 C T rs749079447 LAMA5 Nonsynonymous SNV R3036H 0.001 0 0 0 1 0 0 0 0 0 0 0 29 283636 chr12 40823480 40823480 G A rs749152161 MUC19 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 283637 chr12 48144976 48144976 C T RAPGEF3 Nonsynonymous SNV D134N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 283638 chr14 24032624 24032624 G A rs140030505 AP1G2 Nonsynonymous SNV R78C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 283639 chr22 37962480 37962480 C G rs768905815 CDC42EP1 Nonsynonymous SNV L42V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 283640 chr9 35547248 35547248 G A rs557955313 RUSC2 Nonsynonymous SNV G244S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 283641 chr9 35711656 35711656 C T TLN1 Nonsynonymous SNV G1272D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 283642 chr12 49426713 49426713 T C rs945994774 KMT2D Synonymous SNV Q3925Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 283643 chr9 37919931 37919931 G C rs377048762 SHB Nonsynonymous SNV P473A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 283644 chr2 240011746 240011746 C T rs149333882 HDAC4 Nonsynonymous SNV V778M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 283645 chr14 38208054 38208054 G T TTC6 Nonsynonymous SNV S702I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 283646 chr12 52599916 52599917 CT - C12orf80 0.001 0 0 0 1 0 0 0 0 0 0 0 283647 chr22 23438467 23438467 C T GNAZ Synonymous SNV L195L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.441 283648 chr2 241536149 241536149 G A rs370128354 CAPN10 Synonymous SNV A511A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.243 283649 chr14 51561354 51561354 A G TRIM9 Nonsynonymous SNV F102L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 283650 chr22 46685323 46685323 C T TTC38 Synonymous SNV H369H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.313 283651 chr21 34115432 34115432 G A PAXBP1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.523 283652 chr21 35821838 35821838 C T rs17857111 KCNE1, KCNE1B Nonsynonymous SNV R32H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 283653 chr2 28825712 28825712 G A rs142314104 PLB1 Nonsynonymous SNV V889M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 283654 chr12 57539119 57539119 G T LRP1 Nonsynonymous SNV Q229H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 283655 chr21 43411694 43411694 G A ZBTB21 Synonymous SNV H837H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 283656 chr18 54547226 54547226 A C WDR7 Nonsynonymous SNV E1086A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 283657 chr21 44486463 44486463 G A rs121964964 CBS, CBSL Nonsynonymous SNV A9V 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 33 283658 chr14 74422202 74422202 G A rs372998086 COQ6 Nonsynonymous SNV R116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 283659 chr2 42946206 42946206 G C MTA3 Nonsynonymous SNV G471A 0 0 0.007 0 0 0 0 2 0 0 0 0 18.98 283660 chr2 43655255 43655255 C T rs762773881 THADA Nonsynonymous SNV V1348I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 283661 chr2 48936096 48936096 G A rs758584973 LHCGR Nonsynonymous SNV P224L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 283662 chr14 24780634 24780639 CGGAAG - LTB4R2 P255_G257delinsR 0.001 0.003 0 0 1 1 0 0 0 0 0 0 283663 chr14 24882561 24882561 G T rs376814274 NYNRIN Synonymous SNV V928V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.833 283664 chr21 46875978 46875978 G A rs771496335 COL18A1 Synonymous SNV P178P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.234 283665 chr12 81751988 81751988 A C PPFIA2 Nonsynonymous SNV L116R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 283666 chr2 61412694 61412696 ATG - rs748575461 AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 283667 chr21 47552006 47552006 G A rs61735831 COL6A2 Nonsynonymous SNV R867Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 19.25 283668 chr5 170863103 170863103 G A rs758470984 FGF18 Nonsynonymous SNV V26I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.17 283669 chr5 172185278 172185278 C T rs897674703 LOC101928093 0.002 0 0 0 2 0 0 0 0 0 0 0 8.493 283670 chr21 47856030 47856030 - TCACCAGCT rs760671436 PCNT S2797_Q2798insFTS 0.001 0 0 0 1 0 0 0 0 0 0 0 283671 chr12 95445547 95445547 T A NR2C1 Nonsynonymous SNV D319V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 283672 chr22 18072387 18072387 A C rs202230678 SLC25A18 Nonsynonymous SNV K254N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 283673 chr2 128391775 128391775 C T rs771779884 MYO7B Nonsynonymous SNV R1820W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 283674 chr2 73487961 73487961 G T FBXO41 Nonsynonymous SNV R733S 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 283675 chr22 20043481 20043481 C T rs142289562 TANGO2 Synonymous SNV D34D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 283676 chr11 126075477 126075477 C T rs143531642 RPUSD4 Nonsynonymous SNV D228N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.789 283677 chr22 50280114 50280114 G A rs148831653 ZBED4 Nonsynonymous SNV R935H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 283678 chr2 74889901 74889901 C T rs375993777 SEMA4F Nonsynonymous SNV R134W 0 0 0.007 0 0 0 0 2 0 0 0 0 35 283679 chr14 56645158 56645158 G A rs370178607 PELI2 Synonymous SNV V61V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.424 283680 chr12 313831 313833 AAG - rs761263100 SLC6A12 F83del 0.001 0 0 0 1 0 0 0 0 0 0 0 283681 chr9 131021449 131021449 G T rs751415915 GOLGA2 Synonymous SNV T659T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.421 283682 chr9 131151695 131151695 C T rs780290466 URM1 Nonsynonymous SNV P115L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.43 283683 chr9 133813948 133813948 T C rs199804534 FIBCD1 Nonsynonymous SNV E16G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 283684 chr14 64522730 64522730 C T rs764422613 SYNE2 Synonymous SNV S3271S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.48 283685 chr22 29977065 29977065 G A NIPSNAP1 Nonsynonymous SNV P3S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 283686 chr14 65259862 65259862 C T rs146326769 SPTB Nonsynonymous SNV R840H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 283687 chr3 107798927 107798927 T C rs369671811 CD47 Nonsynonymous SNV D104G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 283688 chr22 37524843 37524843 C T rs143857582 IL2RB Nonsynonymous SNV G317S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.158 283689 chr2 179455829 179455829 A G rs752768925 TTN Nonsynonymous SNV I11143T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.06 283690 chr12 10658520 10658520 G T EIF2S3B Nonsynonymous SNV G7W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 283691 chr3 121179023 121179023 T A rs771303558 POLQ Nonsynonymous SNV L2342F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 19.72 283692 chr22 40814424 40814424 T C rs556324372 MRTFA Nonsynonymous SNV N673S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 283693 chr3 121179025 121179025 A T rs776938206 POLQ Nonsynonymous SNV L2342I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.5 283694 chr22 43308041 43308041 C T rs926159807 PACSIN2 Nonsynonymous SNV D16N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 283695 chr9 140167362 140167362 C T NELFB Synonymous SNV P623P 0 0 0 1 0 0 0.003 0 0 0 0 0 19.06 283696 chr22 45959089 45959089 C T rs192869198 FBLN1 Synonymous SNV H665H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 283697 chr3 130103650 130103650 G A COL6A5 Nonsynonymous SNV C435Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 283698 chr3 133336030 133336030 G C rs201221333 TOPBP1 Nonsynonymous SNV P1240A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 283699 chr14 104202372 104202372 G A rs201591685 PPP1R13B Nonsynonymous SNV R1067W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 283700 chr2 204320182 204320182 T C rs35068009 RAPH1 Nonsynonymous SNV Y427C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 283701 chr13 39546681 39546681 G A rs183260106 STOML3 Stop gain R94X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 283702 chr14 105055027 105055027 G A rs529444309 C14orf180 Nonsynonymous SNV G116S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 283703 chr2 160698795 160698795 T A LY75, LY75-CD302 Nonsynonymous SNV S1081C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 283704 chr2 162903462 162903462 T C DPP4 Nonsynonymous SNV Y83C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 283705 chr14 105452971 105452971 G A rs371401575 CLBA1 Nonsynonymous SNV C68Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 283706 chr14 105939600 105939600 C A CRIP2 Nonsynonymous SNV L6I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 283707 chr2 1668796 1668796 G C PXDN Nonsynonymous SNV Q448E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.826 283708 chr3 142405201 142405201 G A rs149284875 PLS1 Nonsynonymous SNV D322N 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.1 283709 chr3 149485625 149485625 T C rs377486050 ANKUB1 Nonsynonymous SNV Q275R 0 0 0.01 0 0 0 0 3 0 0 0 0 1.651 283710 chr3 150128115 150128115 G C TSC22D2 Synonymous SNV P326P 0 0 0.007 0 0 0 0 2 0 0 0 0 7.087 283711 chr3 152058637 152058637 T C rs772414146 TMEM14EP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.092 283712 chr3 15297695 15297696 AG - SH3BP5 P265Rfs*26 0 0 0.007 0 0 0 0 2 0 0 0 0 283713 chr2 177053944 177053944 G A HOXD1 Nonsynonymous SNV V139I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 283714 chr15 68521882 68521882 C T rs994590268 CLN6 Nonsynonymous SNV G14D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.58 283715 chr15 36946331 36946331 C T C15orf41 Nonsynonymous SNV A45V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.86 283716 chr2 128178915 128178915 G A rs767626189 PROC Nonsynonymous SNV A43T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 283717 chr2 179603991 179603991 T G rs200204761 TTN Nonsynonymous SNV N4294H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.93 283718 chr19 36272132 36272132 T C ARHGAP33 Nonsynonymous SNV S219P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 283719 chr2 138169223 138169223 C T rs761495650 THSD7B Nonsynonymous SNV P914S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 283720 chr19 3638899 3638899 C T rs751838662 PIP5K1C Nonsynonymous SNV A635T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.74 283721 chr2 138727746 138727746 C T rs199629619 HNMT Nonsynonymous SNV T50I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.85 283722 chr2 223065935 223065935 C T rs764232120 PAX3 Synonymous SNV T492T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.801 283723 chr3 182755039 182755039 C T rs149957640 MCCC1 Nonsynonymous SNV A404T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.74 283724 chr3 184299312 184299312 C T rs779683047 EPHB3 Nonsynonymous SNV R967C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 283725 chr14 20585817 20585817 T - rs759730153 OR4K17 N57Tfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 283726 chr19 38985139 38985139 C T rs201293931 RYR1 Nonsynonymous SNV A2141V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.8 283727 chr3 187898039 187898039 G A rs950072810 FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 283728 chr15 86311521 86311521 C T rs575529307 KLHL25 Synonymous SNV S507S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 283729 chr19 40330874 40330874 G A rs148300955 FBL Nonsynonymous SNV S126L 0 0 0.007 1 0 0 0.003 2 0 0 0 0 23.3 283730 chr2 1946830 1946830 G A rs372013056 MYT1L Synonymous SNV D143D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.84 283731 chr12 58131728 58131728 G A AGAP2 Nonsynonymous SNV A101V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 283732 chr15 53905868 53905868 C T rs375717196 WDR72 Nonsynonymous SNV R956Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 17.56 283733 chr6 117642471 117642471 G A rs750354810 ROS1 Stop gain R1910X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 37 283734 chr19 41810122 41810122 G A rs11556495 HNRNPUL1 Nonsynonymous SNV A651T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 283735 chr15 55648575 55648575 A G rs116037872 CCPG1 Nonsynonymous SNV I756T 0 0.005 0 0 0 2 0 0 0 0 0 0 17.18 283736 chr15 89866693 89866693 T C rs138457939 POLG Nonsynonymous SNV N736S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.893 283737 chr2 176972168 176972168 G T rs149509317 HOXD11 Nonsynonymous SNV A29S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.31 283738 chr19 42479818 42479818 G A rs146600566 ATP1A3 Synonymous SNV D753D 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.469 283739 chr3 32932035 32932035 G A rs192447957 TRIM71 Nonsynonymous SNV V447M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 283740 chr15 63986537 63986537 C T rs746133935 HERC1 Synonymous SNV L1818L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.81 283741 chr6 132938816 132938816 C T rs150356042 TAAR2 Nonsynonymous SNV G132R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.7 283742 chr19 43097713 43097713 G A rs1005658371 CEACAM8 Nonsynonymous SNV T135I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.593 283743 chr3 38043350 38043350 A G VILL Nonsynonymous SNV Q290R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 283744 chr6 139208020 139208020 T A rs151070323 ECT2L Nonsynonymous SNV D762E 0.003 0 0 0 4 0 0 0 0 0 0 0 6.751 283745 chr15 68649490 68649490 G A rs372536902 ITGA11 Nonsynonymous SNV R250C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.7 283746 chr16 323510 323510 G T RGS11 Nonsynonymous SNV Q174K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 283747 chr15 72582512 72582512 A G CELF6 Nonsynonymous SNV I45T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 283748 chr10 97516241 97516241 C T ENTPD1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.584 283749 chr2 187373365 187373365 G A ZC3H15 Nonsynonymous SNV A396T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 283750 chr19 46318297 46318297 T G rs148789587 RSPH6A Synonymous SNV I46I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.256 283751 chr2 220422108 220422108 G A rs749717075 OBSL1 Synonymous SNV C1341C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.17 283752 chr3 47452244 47452244 C T PTPN23 Nonsynonymous SNV P860S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 283753 chr16 2120559 2120559 G A rs45517203 TSC2 Nonsynonymous SNV A407T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.1 283754 chr3 48465490 48465490 C G rs371214649 PLXNB1 Synonymous SNV V177V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.095 283755 chr3 49114204 49114204 T C rs753806387 QRICH1 Nonsynonymous SNV S83G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 283756 chr3 49694355 49694366 CAGCAGCTGCAG - rs759806020 BSN Q2463_L2466del 0 0 0.003 0 0 0 0 1 0 0 0 0 283757 chr6 169051434 169051434 C T rs746885609 SMOC2 Synonymous SNV A327A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.35 283758 chr2 203500327 203500332 GCCGCC - FAM117B P144_P145del 0.001 0 0 0 1 0 0 0 0 0 0 0 283759 chr3 52325880 52325880 G A rs370783153 GLYCTK Nonsynonymous SNV R216Q 0 0 0.007 0 0 0 0 2 0 0 0 0 34 283760 chr16 8736360 8736360 G A rs374096817 METTL22 Synonymous SNV T316T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.314 283761 chr16 9858024 9858024 G C GRIN2A Nonsynonymous SNV P1126R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 283762 chr3 52852287 52852287 G A rs765630857 ITIH4 Nonsynonymous SNV T692I 0 0 0.007 0 0 0 0 2 0 0 0 0 3.543 283763 chr2 210908772 210908772 T C rs763426923 KANSL1L Synonymous SNV Q604Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 283764 chr2 211057539 211057539 G A ACADL Synonymous SNV Y396Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.795 283765 chr2 215815751 215815751 T G rs138504099 ABCA12 Nonsynonymous SNV E1917A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 18.67 283766 chr3 58141767 58141767 G A rs1042412076 FLNB Nonsynonymous SNV D2261N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.2 283767 chr16 20329648 20329648 A T rs369702436 GP2 Nonsynonymous SNV L224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 283768 chr2 72707845 72707845 T G EXOC6B Nonsynonymous SNV E454A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 283769 chr16 20752879 20752879 G A rs765879442 THUMPD1 Synonymous SNV A61A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 283770 chr3 9432061 9432061 G C THUMPD3-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 3.688 283771 chr19 51359643 51359643 A C rs866455801 KLK3 Nonsynonymous SNV H65P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 283772 chr14 91110417 91110417 G C rs200529596 TTC7B Nonsynonymous SNV L576V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 283773 chr16 27356224 27356224 G A rs144651842 IL4R Nonsynonymous SNV A82T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.106 283774 chr10 134261558 134261558 A G rs11146376 C10orf91 0 0 0 1 0 0 0.003 0 0 0 0 0 0.725 283775 chr16 1259175 1259175 C T rs200522574 CACNA1H Synonymous SNV G1169G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.34 283776 chr2 226447261 226447261 C A rs370093403 NYAP2 Synonymous SNV A376A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.597 283777 chr16 31075795 31075795 G C rs756752038 ZNF668 Nonsynonymous SNV P19A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.684 283778 chr2 228750106 228750106 C T rs11894733 DAW1 Nonsynonymous SNV T27I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 22.8 283779 chr16 54319135 54319135 C G rs771828882 IRX3 Nonsynonymous SNV E220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 283780 chr16 2140793 2140793 C T PKD1 Nonsynonymous SNV R4006H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 283781 chr16 3544752 3544752 G A rs555162908 C16orf90 Nonsynonymous SNV R58W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 283782 chr4 141074080 141074080 G C rs754835545 MAML3 Nonsynonymous SNV H134Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 283783 chr7 45121444 45121444 C T rs766781344 NACAD Synonymous SNV S1365S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 283784 chr2 238303347 238303347 A C rs754618002 COL6A3 Nonsynonymous SNV F198V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.7 283785 chr16 10273872 10273872 T C rs77288930 GRIN2A Nonsynonymous SNV M133V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.374 283786 chr16 11214529 11214529 G A rs200931583 CLEC16A Nonsynonymous SNV R707Q 0 0.005 0 0 0 2 0 0 0 0 0 0 34 283787 chr2 241531353 241531353 C T CAPN10 Synonymous SNV V158V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 283788 chr2 54482952 54482952 T A rs201242741 TSPYL6 Nonsynonymous SNV N113Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 283789 chr4 159690463 159690463 C A rs767636963 FNIP2 Synonymous SNV P33P 0 0 0.007 0 0 0 0 2 0 0 0 0 21.9 283790 chr19 56466133 56466133 C T rs148518241 NLRP8 Nonsynonymous SNV R237C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.036 283791 chr16 72830968 72830968 G T rs777963608 ZFHX3 Nonsynonymous SNV S957R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 283792 chr16 81388227 81388227 C T rs143187097 GAN Nonsynonymous SNV T167M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 283793 chr2 242814526 242814526 C T rs775901985 RTP5 Synonymous SNV P273P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.807 283794 chr16 20693692 20693692 T C rs753553423 ACSM1 Nonsynonymous SNV D166G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.77 283795 chr11 1253957 1253957 C T rs577898308 MUC5B Synonymous SNV A674A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.24 283796 chr16 84101352 84101352 G A rs772994220 MBTPS1 Synonymous SNV N716N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 3.365 283797 chr4 185686011 185686011 G A rs146216950 ACSL1 Synonymous SNV T442T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.47 283798 chr15 42575919 42575919 A G GANC Nonsynonymous SNV N177D 0.003 0 0 0 3 0 0 0 0 0 0 0 1.758 283799 chr16 30078329 30078329 C T rs750912887 ALDOA Synonymous SNV G37G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 283800 chr16 30522264 30522264 G T ITGAL Nonsynonymous SNV L810F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.79 283801 chr4 2306712 2306712 G A rs377628449 ZFYVE28 Nonsynonymous SNV S422L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.948 283802 chr16 89017080 89017080 C T rs544449265 LOC100129697 Nonsynonymous SNV P185L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.365 283803 chr4 39245969 39245969 C G rs914609619 WDR19 Synonymous SNV V681V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 283804 chr16 90030686 90030686 C A DEF8 Nonsynonymous SNV L311I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 283805 chr3 14798898 14798898 G A rs150691724 C3orf20 Nonsynonymous SNV R532H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.671 283806 chr4 39501825 39501825 G A rs146932231 UGDH Nonsynonymous SNV P408S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.22 283807 chr16 66997814 66997814 G A rs750851359 CES3 Nonsynonymous SNV R179H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 283808 chr4 44450219 44450219 A C KCTD8 Nonsynonymous SNV Y108D 0 0 0.003 0 0 0 0 1 0 0 0 0 26 283809 chr3 167745545 167745545 G A rs370455114 GOLIM4 Stop gain R504X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 283810 chr2 74687022 74687022 C T rs980062761 WBP1 Synonymous SNV V65V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 283811 chr2 86707463 86707463 G C rs143689515 KDM3A Synonymous SNV G830G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 283812 chr16 81253846 81253846 G A rs762103673 PKD1L2 Nonsynonymous SNV P44S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 283813 chr17 7296926 7296926 C T rs200961730 PLSCR3 Synonymous SNV L79L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 283814 chr16 82033565 82033565 T G rs368369528 SDR42E1 Nonsynonymous SNV Q111H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.491 283815 chr3 100471703 100471703 A G rs747751013 ABI3BP Nonsynonymous SNV Y973H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 283816 chr3 101571753 101571753 A G rs61730026 NFKBIZ Nonsynonymous SNV S162G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 283817 chr17 7942597 7942597 G A ALOX15B Nonsynonymous SNV G42S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 283818 chr16 84495449 84495449 G T rs781012637 ATP2C2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.213 283819 chr17 8092906 8092906 C T BORCS6 Nonsynonymous SNV A185T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 283820 chr3 196674947 196674947 G A rs140946995 PIGZ Nonsynonymous SNV A274V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 283821 chr3 133661537 133661537 G C rs771480419 SLCO2A1 Nonsynonymous SNV H513D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 283822 chr11 17553003 17553003 G A rs758959670 USH1C Nonsynonymous SNV P64L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 283823 chr7 131831344 131831344 G A rs776632659 PLXNA4 Synonymous SNV H1660H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.111 283824 chr5 111540101 111540101 G C EPB41L4A Nonsynonymous SNV D449E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 283825 chr5 112163666 112163666 T C rs202199891 APC Nonsynonymous SNV V512A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28 283826 chr3 36422191 36422191 C T rs758518808 STAC Nonsynonymous SNV A19V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 283827 chr3 37785460 37785460 G A rs201925616 ITGA9 Nonsynonymous SNV A790T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.841 283828 chr5 115782611 115782611 C G rs199858026 SEMA6A Nonsynonymous SNV A931P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.53 283829 chr3 121353246 121353246 C T rs138329587 HCLS1 Synonymous SNV G200G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 283830 chr17 17931627 17931627 G T ATPAF2 Synonymous SNV V81V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.404 283831 chr5 123974874 123974891 TGCTGAGAGGCAACAAGG - ZNF608 L1490_Q1495del 0 0 0.003 0 0 0 0 1 0 0 0 0 283832 chr15 102346225 102346225 C G rs147056953 OR4F6 Nonsynonymous SNV I101M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.452 283833 chr15 102358673 102358673 G A rs144039449 OR4F15 Nonsynonymous SNV R95Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.338 283834 chr5 126161748 126161748 G A rs6875053 LMNB1 Synonymous SNV S310S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.53 283835 chr5 126746171 126746171 C T rs145815113 MEGF10 Synonymous SNV S336S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 10.63 283836 chr16 89986181 89986181 G T rs376670171 MC1R Nonsynonymous SNV S172I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 24.8 283837 chr5 128956352 128956352 A G rs1014351054 ADAMTS19 Nonsynonymous SNV D507G 0 0 0.007 0 0 0 0 2 0 0 0 0 19.48 283838 chr3 124720707 124720707 C T rs528833591 HEG1 Nonsynonymous SNV R1169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 283839 chr17 1374578 1374578 C G MYO1C Nonsynonymous SNV D692H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 283840 chr5 134782413 134782413 C T rs768062488 DCANP1 Nonsynonymous SNV R129Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.682 283841 chr5 139221949 139221949 C G rs755201817 PSD2 Nonsynonymous SNV L736V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 283842 chr17 27228064 27228064 C T rs150228941 DHRS13 Nonsynonymous SNV R209Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 283843 chr17 27438781 27438781 C T rs200046806 MYO18A Nonsynonymous SNV R900H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 283844 chr11 47354799 47354799 G A rs376344765 MYBPC3 Synonymous SNV V1092V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.04 283845 chr5 140307304 140307304 C A rs144571902 PCDHAC1 Nonsynonymous SNV T276K 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 283846 chr17 31343001 31343001 G A rs200924687 ASIC2 Synonymous SNV H475H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.44 283847 chr14 104642952 104642952 T C rs201356632 KIF26A Nonsynonymous SNV M1276T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.04 283848 chr1 153910000 153910000 G A rs770581905 DENND4B Synonymous SNV S743S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.17 283849 chr3 146318247 146318247 G A rs768601462 PLSCR5 Nonsynonymous SNV A6V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.639 283850 chr17 38151459 38151459 A G rs374192363 PSMD3 Nonsynonymous SNV N376S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 283851 chr17 38249548 38249548 C T rs149579879 THRA Synonymous SNV D423D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.88 283852 chr17 38510724 38510724 G A rs373590342 RARA Synonymous SNV T229T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 283853 chr5 156638321 156638321 A G rs765858330 ITK Synonymous SNV L89L 0 0 0.007 0 0 0 0 2 0 0 0 0 7.872 283854 chr17 8020158 8020158 T C rs374223561 ALOXE3 Synonymous SNV V96V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 283855 chr1 15894313 15894313 C T rs1009514845 DNAJC16 Nonsynonymous SNV H352Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 283856 chr3 77657067 77657067 G A rs200783298 ROBO2 Synonymous SNV T1085T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.774 283857 chr5 167675135 167675135 T A rs142031449 TENM2 Synonymous SNV I2158I 0 0 0.007 0 0 0 0 2 0 0 0 0 10.51 283858 chr17 10300248 10300248 C T rs200412862 MYH8 Nonsynonymous SNV A1412T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 283859 chr17 10434978 10434978 T A MYH2 Nonsynonymous SNV K890I 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 283860 chr17 39967408 39967408 C A P3H4 Synonymous SNV T197T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.34 283861 chr17 10542907 10542907 A C rs894606631 MYH3 Synonymous SNV V965V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 283862 chr5 180030221 180030221 C T rs143739828 FLT4 Nonsynonymous SNV V1355M 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 15.89 283863 chr16 31092551 31092551 C T ZNF646 Nonsynonymous SNV P1636S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 283864 chr17 43175837 43175837 C T NMT1 Synonymous SNV I267I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.144 283865 chr17 46022973 46022973 C A PNPO Nonsynonymous SNV R138S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 283866 chr17 46135909 46135909 G A NFE2L1 Nonsynonymous SNV G379S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15 283867 chr16 50186939 50186939 C G TENT4B Nonsynonymous SNV P26A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.638 283868 chr17 48784987 48784987 T C ANKRD40 Nonsynonymous SNV Q10R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 283869 chr5 38919378 38919378 G T OSMR Nonsynonymous SNV G552V 0 0 0.007 0 0 0 0 2 0 0 0 0 1.383 283870 chr8 55541955 55541955 G A rs576959220 RP1 Nonsynonymous SNV R1838H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.856 283871 chr3 196675445 196675445 C T rs200901195 PIGZ Nonsynonymous SNV R108K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.081 283872 chr17 51902412 51902412 A G rs768340480 KIF2B Nonsynonymous SNV E673G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 283873 chr5 43508719 43508719 G A rs770111692 C5orf34 Nonsynonymous SNV P82L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 283874 chr17 33904443 33904443 G T rs767354075 PEX12 Nonsynonymous SNV H98Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.001 283875 chr16 67942902 67942902 G A PSKH1 Nonsynonymous SNV A84T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 283876 chr16 70305733 70305733 C T rs780893599 AARS1 Nonsynonymous SNV D208N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 283877 chr3 38495835 38495835 C T ACVR2B Nonsynonymous SNV L8F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 283878 chr5 68661323 68661323 T C TAF9 Nonsynonymous SNV Q81R 0 0 0.007 0 0 0 0 2 0 0 0 0 13.69 283879 chr16 79245676 79245676 G T rs76204496 WWOX Nonsynonymous SNV G297C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 25.7 283880 chr8 110587604 110587604 T C SYBU Nonsynonymous SNV Q378R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 283881 chr17 72943141 72943141 C T rs771132086 OTOP3 Synonymous SNV H379H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.685 283882 chr1 198248154 198248154 G T NEK7 Synonymous SNV R184R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.79 283883 chr3 44283665 44283665 C T rs540779054 TOPAZ1 Synonymous SNV A40A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 283884 chr17 73237022 73237022 T C rs750687241 GGA3 Nonsynonymous SNV I233V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 283885 chr3 46484979 46484979 G A rs376334318 LTF Synonymous SNV C492C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.512 283886 chr5 79374026 79374026 T C THBS4 Synonymous SNV D656D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.414 283887 chr11 73073523 73073523 G A rs141393518 ARHGEF17 Synonymous SNV E1580E 0 0 0 2 0 0 0.005 0 0 0 0 0 9.335 283888 chr3 47859566 47859566 C T rs147205504 DHX30 Nonsynonymous SNV P28L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 283889 chr5 82843900 82843900 C A VCAN Nonsynonymous SNV Q423K 0 0 0.007 0 0 0 0 2 0 0 0 0 23 283890 chr5 9318524 9318524 T C rs747083188 SEMA5A Nonsynonymous SNV Y77C 0 0 0.007 0 0 0 0 2 0 0 0 0 24 283891 chr3 48630811 48630811 - T rs766902987 COL7A1 Frameshift insertion V168Gfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 283892 chr17 42478497 42478497 T C rs774164370 GPATCH8 Synonymous SNV A238A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.041 283893 chr3 49828315 49828315 C T rs764180294 CDHR4 Nonsynonymous SNV G773R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 283894 chr6 101100733 101100733 C T rs759060261 ASCC3 Synonymous SNV Q952Q 0 0 0.007 0 0 0 0 2 0 0 0 0 12.82 283895 chr1 205888082 205888082 G A rs748048445 SLC26A9 Synonymous SNV G714G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.83 283896 chr17 46050953 46050953 A G CDK5RAP3 Nonsynonymous SNV I66V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 283897 chr6 10961555 10961555 G A rs780559574 SYCP2L Nonsynonymous SNV R758H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 283898 chr1 209782357 209782357 C T rs199812064 CAMK1G Nonsynonymous SNV T223M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 283899 chr11 86662953 86662953 C T FZD4 Nonsynonymous SNV C282Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 283900 chr17 79826266 79826266 C T rs981455275 ARHGDIA Nonsynonymous SNV G233S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.894 283901 chr17 79875988 79875988 C A SIRT7 Nonsynonymous SNV S7I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 283902 chr6 11190957 11190957 G A rs200751520 NEDD9 Nonsynonymous SNV T233M 0 0 0.007 0 0 0 0 2 0 0 0 0 29.3 283903 chr4 3517845 3517845 G A rs138120743 LRPAP1 Nonsynonymous SNV R278W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 283904 chr3 58279367 58279367 C G ABHD6 Nonsynonymous SNV Q297E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 283905 chr18 2891664 2891664 T C rs536103597 EMILIN2 Synonymous SNV G513G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 283906 chr6 128294810 128294810 G A rs760867614 PTPRK Synonymous SNV L1377L 0 0 0.007 0 0 0 0 2 0 0 0 0 14.02 283907 chr6 133013595 133013595 A G VNN1 Nonsynonymous SNV Y319H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.155 283908 chr6 13321179 13321179 C T rs35014745 TBC1D7, TBC1D7-LOC100130357 Synonymous SNV L87L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.4 283909 chr9 4618094 4618094 T C SPATA6L Nonsynonymous SNV D184G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 283910 chr17 4448924 4448924 G A rs143036488 MYBBP1A Nonsynonymous SNV A685V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 283911 chr17 4488005 4488005 G C rs550789809 SMTNL2 Nonsynonymous SNV M35I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 283912 chr11 114453360 114453360 G T NXPE4 Nonsynonymous SNV N160K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 283913 chr4 102783698 102783698 T G rs28485258 BANK1 Nonsynonymous SNV F81V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 283914 chr17 73101998 73101998 G A rs139714153 SLC16A5 Nonsynonymous SNV R463H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 283915 chr6 160903729 160903729 G C LPAL2 0 0 0.007 0 0 0 0 2 0 0 0 0 2.565 283916 chr17 7810944 7810944 G A rs375492899 CHD3 Synonymous SNV R1709R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.456 283917 chr4 126371017 126371017 A G rs199726050 FAT4 Nonsynonymous SNV H2951R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 283918 chr4 144617318 144617318 T C rs764290761 FREM3 Nonsynonymous SNV D1504G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 283919 chr17 76831570 76831570 C T rs150802920 USP36 Synonymous SNV T89T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.47 283920 chr4 84377288 84377288 G C MRPS18C Nonsynonymous SNV V20L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.391 283921 chr4 147741397 147741397 T A rs149464457 TTC29 Nonsynonymous SNV Q327H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 283922 chr17 77987334 77987334 G A TBC1D16 Nonsynonymous SNV R5C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 283923 chr6 26093003 26093003 C T rs557062229 HFE Nonsynonymous SNV T56I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 283924 chr6 26104456 26104457 AG - rs763485719 HIST1H4C Q94Rfs*36 0 0 0.007 0 0 0 0 2 0 0 0 0 283925 chr17 78211377 78211377 G A rs201696460 SLC26A11 Synonymous SNV A323A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 283926 chr17 78328186 78328186 G A rs557060326 RNF213-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.136 283927 chr6 28134885 28134885 G A rs367825567 ZNF192P1 0 0 0.007 0 0 0 0 2 0 0 0 0 13.19 283928 chr4 44683192 44683192 G T GUF1 Nonsynonymous SNV G160V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 283929 chr6 28358528 28358528 C T rs751322398 ZSCAN12 Synonymous SNV T513T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.681 283930 chr4 155458569 155458569 C T rs144644967 PLRG1 Nonsynonymous SNV A443T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 283931 chr17 21202192 21202192 C T MAP2K3 Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 283932 chr17 80007706 80007706 G T RFNG Nonsynonymous SNV F225L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 283933 chr5 110462514 110462514 C T WDR36 Nonsynonymous SNV T930I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 283934 chr5 112917237 112917237 T G YTHDC2 Nonsynonymous SNV L860V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 283935 chr4 170322819 170322819 G A rs200710438 NEK1 Synonymous SNV N1092N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.87 283936 chr6 35761309 35761309 G A rs574520535 CLPSL1 Synonymous SNV T89T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.515 283937 chr18 9257230 9257230 A G rs139547977 ANKRD12 Nonsynonymous SNV Q1299R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.4 283938 chr6 41743201 41743201 T G FRS3 Nonsynonymous SNV N70T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 283939 chr6 42946036 42946036 G C rs61753220 PEX6 Nonsynonymous SNV P285A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 283940 chr19 3942158 3942158 C T rs181454061 NMRK2 Nonsynonymous SNV R199C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 283941 chr18 21708882 21708882 G A rs762779148 TTC39C Nonsynonymous SNV G178R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 283942 chr9 124535488 124535488 T A rs376519748 DAB2IP Nonsynonymous SNV M770K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 283943 chr4 25819818 25819818 C T rs199717742 SEL1L3 Synonymous SNV E467E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 283944 chr9 126144043 126144043 G A rs201746975 DENND1A Nonsynonymous SNV P911S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 283945 chr18 42533055 42533055 C T rs765018649 SETBP1 Synonymous SNV D1250D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 283946 chr9 130592004 130592004 G A rs756897517 ENG Nonsynonymous SNV H108Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 4.04 283947 chr9 130592005 130592005 C A rs767907933 ENG Synonymous SNV L107L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.8 283948 chr1 36644557 36644557 G A rs111556626 MAP7D1 Synonymous SNV A650A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.28 283949 chr1 3691959 3691959 G A rs554492306 SMIM1 Nonsynonymous SNV V8I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.468 283950 chr6 75893670 75893670 T G rs202153313 COL12A1 Synonymous SNV A396A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.325 283951 chr5 147889562 147889562 T C HTR4 Nonsynonymous SNV N178S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.816 283952 chr5 108717248 108717248 T C rs140359423 PJA2 Nonsynonymous SNV Y63C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 283953 chr6 83848172 83848172 C G DOP1A Nonsynonymous SNV H1462D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 283954 chr1 41327602 41327602 G A rs973608044 CITED4 Synonymous SNV A66A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 283955 chr6 97720648 97720648 A G rs141232341 MMS22L Nonsynonymous SNV Y180H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 283956 chr6 99374800 99374800 C G rs147696366 FBXL4 Nonsynonymous SNV R22P 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 28.4 283957 chr1 44467248 44467248 G A SLC6A9 Synonymous SNV G273G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.45 283958 chr9 139369956 139369956 G A rs753290909 SEC16A Synonymous SNV P704P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.876 283959 chr17 54587899 54587899 G A rs759577885 ANKFN1 Nonsynonymous SNV D836N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 283960 chr4 8229645 8229645 G A SH3TC1 Nonsynonymous SNV A666T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 283961 chr5 176524356 176524356 G A rs138935913 FGFR4 Synonymous SNV L699L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.331 283962 chr5 140735083 140735083 C T rs201107501 PCDHGA4 Synonymous SNV L137L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.463 283963 chr4 91389444 91389444 A G rs187207325 CCSER1 Nonsynonymous SNV M555V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.187 283964 chr5 140870883 140870883 T C PCDHGC5 Synonymous SNV L692L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.491 283965 chr19 14194597 14194597 G A C19orf67 Nonsynonymous SNV A143V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 283966 chr7 120478963 120478963 T C rs770789679 TSPAN12 Synonymous SNV V51V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.802 283967 chr7 12409394 12409394 A G VWDE Synonymous SNV D731D 0 0 0.007 0 0 0 0 2 0 0 0 0 5.411 283968 chr7 12610476 12610476 T C SCIN Nonsynonymous SNV W22R 0 0 0.007 0 0 0 0 2 0 0 0 0 27 283969 chr19 15285107 15285107 T G NOTCH3 Nonsynonymous SNV E1503A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 283970 chr19 4268606 4268606 C T rs779670116 YJU2 Synonymous SNV A295A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.108 283971 chr7 135366409 135366409 T C rs759272011 SLC13A4 Nonsynonymous SNV I596V 0 0 0.007 0 0 0 0 2 0 0 0 0 6.14 283972 chr7 138604004 138604004 A G rs770597852 KIAA1549 Nonsynonymous SNV F123S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.17 283973 chr17 7339882 7339882 G T rs141257669 TMEM102 Nonsynonymous SNV S195I 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 9.755 283974 chr19 4513587 4513587 G A rs374023977 PLIN4 Nonsynonymous SNV R129W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 283975 chr7 141866036 141866036 C T rs759687211 MGAM2 Nonsynonymous SNV R931W 0 0 0.007 0 0 0 0 2 0 0 0 0 35 283976 chr7 141952121 141952121 C T rs751381841 PRSS58 Nonsynonymous SNV V216I 0 0 0.007 0 0 0 0 2 0 0 0 0 22 283977 chr19 17844123 17844123 C T rs552441990 MAP1S Synonymous SNV R944R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 283978 chr12 96958501 96958501 C T rs572107761 CFAP54 Synonymous SNV F859F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.488 283979 chr12 100613915 100613915 T C rs762777626 ACTR6 Nonsynonymous SNV L351P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 283980 chr19 18497109 18497109 G T rs772493789 GDF15 Nonsynonymous SNV R37L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.239 283981 chr7 148921230 148921230 G A ZNF282 Nonsynonymous SNV G503R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 283982 chr12 103762687 103762687 A C rs113015837 C12orf42 Nonsynonymous SNV S79R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 283983 chr12 104122729 104122729 G C rs150407154 STAB2 Nonsynonymous SNV A1680P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 283984 chr7 149545314 149545314 C T rs776992374 ZNF862 Synonymous SNV P244P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 283985 chr19 7707660 7707660 C T rs200135215 STXBP2 Nonsynonymous SNV T301M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 283986 chr19 8028460 8028460 T C rs777651478 ELAVL1 Synonymous SNV E296E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 283987 chr7 193370 193370 G C FAM20C Synonymous SNV A57A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.854 283988 chr20 19867420 19867420 C T rs750327856 RIN2 Nonsynonymous SNV T36I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.49 283989 chr19 36399085 36399085 G A rs147393700 TYROBP Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.552 283990 chr20 23030015 23030015 C T rs1800576 THBD Nonsynonymous SNV A43T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.42 283991 chr7 23775503 23775503 T A rs55950645 STK31 Nonsynonymous SNV I254K 0 0 0.007 0 0 0 0 2 0 0 0 0 12.39 283992 chr5 95072720 95072720 T C rs144735826 RHOBTB3 Nonsynonymous SNV I119T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 283993 chr12 129100865 129100865 C T rs762428823 TMEM132C Synonymous SNV I430I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.55 283994 chr19 41858927 41858927 A C TGFB1 Nonsynonymous SNV L8R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 283995 chr19 10787871 10787871 A G rs148206792 ILF3 Synonymous SNV Q148Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 283996 chr13 20763685 20763685 - C rs398123814 GJB2 Frameshift insertion V13Cfs*35 0 0 0 1 0 0 0.003 0 0 0 0 0 283997 chr5 167552010 167552010 C T rs781016708 TENM2 Nonsynonymous SNV L490F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 283998 chr19 42837839 42837839 C T rs376175890 MEGF8 Synonymous SNV D90D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 283999 chr13 32332519 32332519 C T rs140844142 RXFP2 Synonymous SNV N73N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.695 284000 chr13 32749723 32749723 G A FRY Nonsynonymous SNV S792N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 284001 chr13 33316751 33316751 T C PDS5B Nonsynonymous SNV V833A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 284002 chr20 49552716 49552716 C T rs769390268 DPM1 Nonsynonymous SNV R193Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 284003 chr13 39358702 39358702 A G rs760116194 FREM2 Nonsynonymous SNV T1926A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.792 284004 chr7 80300349 80300349 G T rs200757788 CD36 Nonsynonymous SNV R253I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 284005 chr20 57273803 57273804 GA - rs745496920 NPEPL1 E191Dfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 284006 chr19 17439340 17439340 G A rs374436675 ANO8 Synonymous SNV F619F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.89 284007 chr5 34941249 34941249 A T rs146260542 DNAJC21 Nonsynonymous SNV Y315F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 284008 chr10 122664256 122664256 G A rs772647806 WDR11 Synonymous SNV S1042S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.09 284009 chr7 93055717 93055717 C T rs759332372 CALCR Nonsynonymous SNV S459N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 284010 chr7 98633360 98633360 G T rs368916708 LOC101927550 0 0 0.007 0 0 0 0 2 0 0 0 0 4.008 284011 chr19 18376745 18376745 C T rs138064943 IQCN Synonymous SNV A535A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 284012 chr19 1004884 1004884 G A rs770471437 GRIN3B Nonsynonymous SNV A462T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.081 284013 chr19 19297720 19297720 G A BORCS8 Synonymous SNV P44P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 284014 chr8 10469225 10469225 C T rs199746022 RP1L1 Nonsynonymous SNV E795K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.016 284015 chr6 108502148 108502148 A G NR2E1 Nonsynonymous SNV T330A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.9 284016 chr8 10583699 10583699 C T rs761210943 SOX7 Nonsynonymous SNV G239E 0 0 0.007 0 0 0 0 2 0 0 0 0 16.44 284017 chr6 161137796 161137796 G - rs747296762 PLG 0.001 0 0 0 1 0 0 0 0 0 0 0 284018 chr19 32083533 32083533 A G THEG5 Nonsynonymous SNV H4R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.851 284019 chr6 167754516 167754516 T G TTLL2 Nonsynonymous SNV I376M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 284020 chr6 168457810 168457810 G A FRMD1 Synonymous SNV F471F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.704 284021 chr8 121467725 121467725 A G rs147929406 MTBP Nonsynonymous SNV K179E 0 0 0.007 0 0 0 0 2 0 0 0 0 14.33 284022 chr19 35504251 35504251 C T GRAMD1A Nonsynonymous SNV P226L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 284023 chr11 199461 199461 A T ODF3 Synonymous SNV P209P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.07 284024 chr19 52496838 52496838 G A ZNF615 Synonymous SNV S502S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.188 284025 chr21 31859611 31859611 G A rs144891171 KRTAP19-2 Synonymous SNV C19C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.473 284026 chr11 281801 281801 C G NLRP6 Nonsynonymous SNV S689R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 284027 chr6 123369790 123369790 A C CLVS2 Synonymous SNV G196G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.345 284028 chr19 36045965 36045965 G A rs150792532 ATP4A Synonymous SNV F780F 0 0.003 0 0 0 1 0 0 0 0 0 0 7.283 284029 chr19 36212510 36212510 C T rs179686 KMT2B Nonsynonymous SNV P754L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 284030 chr19 36278558 36278558 G A rs766133322 ARHGAP33 Nonsynonymous SNV G867S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 284031 chr5 73190251 73190251 C T rs777224552 ARHGEF28 Nonsynonymous SNV A918V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 284032 chr19 36365418 36365418 A G rs369275539 APLP1 Nonsynonymous SNV I357V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.14 284033 chr8 135614774 135614774 C T rs773069416 ZFAT Synonymous SNV R334R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.38 284034 chr8 141461330 141461330 T G TRAPPC9 Nonsynonymous SNV D48A 0 0 0.007 0 0 0 0 2 0 0 0 0 25 284035 chr19 36603673 36603673 G C rs570983419 OVOL3 Nonsynonymous SNV Q57H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.3 284036 chr6 137519297 137519297 G A rs41288979 IFNGR1 Synonymous SNV T447T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.79 284037 chr19 4670305 4670305 G A rs775582677 MYDGF Synonymous SNV S14S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.405 284038 chr11 797779 797779 C T rs765463231 PANO1 Nonsynonymous SNV R52W 0.003 0 0 0 3 0 0 0 0 0 0 0 10.18 284039 chr6 3129402 3129402 G A rs199698749 BPHL Nonsynonymous SNV V168I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 284040 chr8 144461081 144461081 G A RHPN1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 284041 chr6 35438347 35438347 C G rs181476065 MIR7111 0.001 0 0 0 1 0 0 0 0 0 0 0 3.896 284042 chr8 144940649 144940649 G A rs200167763 EPPK1 Nonsynonymous SNV T2258M 0 0 0.01 0 0 0 0 3 0 0 0 0 32 284043 chr8 144946611 144946611 C T rs782075844 EPPK1 Nonsynonymous SNV V271M 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 284044 chr8 144994070 144994070 C T rs782021653 PLEC Nonsynonymous SNV G3293S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 284045 chr21 45222239 45222239 A G rs200910420 RRP1 Nonsynonymous SNV K365R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 284046 chr19 39971521 39971521 C T rs768161958 TIMM50 Nonsynonymous SNV R10C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 284047 chr19 56154257 56154257 C G rs768551457 ZNF580 Nonsynonymous SNV A128G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 284048 chr8 145060303 145060303 C T rs200680602 PARP10 Nonsynonymous SNV R46H 0 0 0.007 0 0 0 0 2 0 0 0 0 20.9 284049 chr6 100061150 100061150 G A rs371879403 PRDM13 Synonymous SNV L213L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.249 284050 chr19 41040102 41040102 G A rs759548781 SPTBN4 Nonsynonymous SNV R80Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 284051 chr14 36785911 36785911 A G rs143434858 MBIP Synonymous SNV I79I 0 0 0 2 0 0 0.005 0 0 0 0 0 5.164 284052 chr8 145741869 145741869 G A rs377012693 RECQL4 Synonymous SNV L212L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.592 284053 chr6 109837694 109837694 C T rs375441074 AK9 Nonsynonymous SNV R1262H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 284054 chr19 42864944 42864944 C T MEGF8 Nonsynonymous SNV P1769S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 284055 chr6 111709222 111709222 T A rs771788695 REV3L Nonsynonymous SNV K310I 0.003 0 0 0 3 0 0 0 0 0 0 0 28.2 284056 chr17 81043048 81043048 C T rs548178948 METRNL Synonymous SNV D135D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.299 284057 chr8 19681388 19681388 C T rs752885965 INTS10 Synonymous SNV A223A 0 0 0.007 0 0 0 0 2 0 0 0 0 16.2 284058 chr22 19950202 19950202 G A COMT Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 284059 chr8 2037874 2037874 C T rs61732774 MYOM2 Nonsynonymous SNV T563M 0 0 0.007 0 0 0 0 2 0 0 0 0 11.01 284060 chr8 22138672 22138672 A G PIWIL2 Nonsynonymous SNV I80V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.08 284061 chr20 372095 372095 C T rs139461410 TRIB3 Synonymous SNV H152H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.66 284062 chr6 47254224 47254224 G A rs41305916 TNFRSF21 Synonymous SNV D68D 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 5.149 284063 chr19 44611005 44611005 C A ZNF224 Nonsynonymous SNV P231Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 284064 chr6 127911322 127911322 C A rs370609859 C6orf58 Synonymous SNV T255T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 284065 chr6 5086558 5086558 - A PPP1R3G Frameshift insertion S281Vfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 284066 chr6 27100931 27100931 C T rs139431925 H2AC11 Synonymous SNV P27P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 284067 chr14 68233121 68233121 C T rs200595749 ZFYVE26 Nonsynonymous SNV R1945Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 284068 chr6 136682235 136682235 C T rs142006982 MAP7 Nonsynonymous SNV E443K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 284069 chr19 45899440 45899440 C G rs529746041 PPP1R13L Nonsynonymous SNV G297R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 284070 chr19 46144865 46144865 T C EML2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.614 284071 chr8 30704683 30704683 G A rs150062151 TEX15 Synonymous SNV D1000D 0 0 0.007 0 0 0 0 2 0 0 0 0 2.726 284072 chr8 33371093 33371093 G C SNORD13 0 0 0.003 0 0 0 0 1 0 0 0 0 9.039 284073 chr20 17602350 17602350 G A rs200800860 RRBP1 Synonymous SNV P1103P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.306 284074 chr20 18611115 18611115 G T rs6045525 DTD1 Nonsynonymous SNV G190C 0.002 0.005 0 0 2 2 0 0 1 1 0 0 0.526 284075 chr8 61655272 61655272 T C rs373942842 CHD7 Synonymous SNV Y427Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.003 284076 chr6 87725675 87725675 C G HTR1E Nonsynonymous SNV A208G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 284077 chr8 67109284 67109284 G T rs118150227 LINC00967 0 0 0.014 0 0 0 0 4 0 0 0 0 4.818 284078 chr8 70541825 70541825 G A rs199542001 SULF1 Nonsynonymous SNV R732Q 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 24.1 284079 chr8 79650858 79650858 A T rs369460395 IL7 Nonsynonymous SNV L81I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 284080 chr8 81399749 81399749 C T rs764512748 ZBTB10 Nonsynonymous SNV P235L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 284081 chr8 9760764 9760764 G C rs867321395 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 284082 chr6 169622555 169622555 C T rs138262723 THBS2 Nonsynonymous SNV E1004K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.6 284083 chr9 100245400 100245400 C T rs138199272 TDRD7 Synonymous SNV S820S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 284084 chr9 101065546 101065546 G A GABBR2 Nonsynonymous SNV R797C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 284085 chr9 1057116 1057116 A G rs41298155 DMRT2 Nonsynonymous SNV D336G 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 284086 chr9 109689592 109689592 C T rs747455601 ZNF462 Synonymous SNV Y1133Y 0 0 0.007 0 0 0 0 2 0 0 0 0 2.539 284087 chr9 111624726 111624726 G A rs201993006 ACTL7A Nonsynonymous SNV V42M 0 0 0.007 0 0 0 0 2 0 0 0 0 11.33 284088 chr19 507557 507557 C T rs749726114 TPGS1 Synonymous SNV F17F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.453 284089 chr20 50769508 50769508 G A rs377227608 ZFP64 Nonsynonymous SNV T354I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 284090 chr6 3123966 3123966 C T rs754914068 BPHL Synonymous SNV H61H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 284091 chr9 117166333 117166333 G A rs768714315 WHRN Nonsynonymous SNV S403L 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 28.1 284092 chr6 74183172 74183172 C T rs139334277 MTO1 Nonsynonymous SNV T207M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.031 284093 chr6 33756817 33756817 G T rs201742534 LEMD2 Nonsynonymous SNV T26N 0.002 0 0.007 1 2 0 0.003 2 0 0 0 0 Likely benign 23.1 284094 chr19 55607485 55607485 G A rs140456089 PPP1R12C Nonsynonymous SNV R363C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 284095 chr20 61916220 61916220 G A rs112403271 ARFGAP1 Synonymous SNV A127A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.941 284096 chr11 43515370 43515370 T A TTC17 Synonymous SNV L1114L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 284097 chr7 121651387 121651387 T C PTPRZ1 Nonsynonymous SNV Y763H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 284098 chr20 62331998 62331998 G A rs756142438 ARFRP1 Synonymous SNV I111I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.066 284099 chr9 130864673 130864673 C G rs142703551 SLC25A25 Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 284100 chr19 38995393 38995393 C T rs202160739 RYR1 Synonymous SNV Y2691Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.51 284101 chr20 62658384 62658384 C T rs201356673 PRPF6 Nonsynonymous SNV A693V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.81 284102 chr7 100202727 100202727 - G rs761254301 PCOLCE Frameshift insertion R162Afs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 284103 chr9 131383478 131383478 C T rs140353002 SPTAN1 Synonymous SNV T1900T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.71 284104 chr7 128049519 128049519 T C rs148474921 IMPDH1 Nonsynonymous SNV T56A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.131 284105 chr9 131747215 131747215 C A rs142108937 NUP188 Synonymous SNV L666L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 284106 chr21 18933750 18933750 G A rs754261158 CXADR Synonymous SNV K263K 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 284107 chr7 129929468 129929468 C A rs146796996 CPA2 Nonsynonymous SNV L381M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 284108 chr2 11809991 11809991 C T NTSR2 Nonsynonymous SNV V89M 0 0 0 1 0 0 0.003 0 0 0 0 0 6.785 284109 chr7 135073606 135073606 G A CNOT4 Synonymous SNV T553T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 284110 chr19 58049455 58049455 T C ZNF549 Synonymous SNV Y348Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 284111 chr21 34925263 34925263 A G rs148591619 SON Synonymous SNV S1242S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 7.777 284112 chr19 58152217 58152217 T G rs774216694 ZNF211 Nonsynonymous SNV D60E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.48 284113 chr21 40717113 40717113 C T rs189031203 HMGN1 Nonsynonymous SNV E72K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 284114 chr9 136599038 136599038 G A SARDH Synonymous SNV A86A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 284115 chr2 136561531 136561531 G A rs779002541 LCT Synonymous SNV Y1544Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.148 284116 chr9 137705831 137705831 C T rs139544503 COL5A1 Synonymous SNV G1285G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.562 284117 chr7 100648237 100648237 A G MUC12 Nonsynonymous SNV H4798R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 284118 chr9 139837354 139837354 C G FBXW5 Synonymous SNV A131A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.169 284119 chr20 2464227 2464227 A T rs189196340 ZNF343 Synonymous SNV S370S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.062 284120 chr11 56143782 56143782 T C rs768657968 OR8U1, OR8U8 Nonsynonymous SNV M228T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 284121 chr9 14859242 14859242 G A rs771013392 FREM1 Synonymous SNV L190L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.113 284122 chr7 100228524 100228524 G A TFR2 Nonsynonymous SNV R249C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 284123 chr22 22842611 22842611 - GGC ZNF280B P371_S372insP 0.001 0 0 0 1 0 0 0 0 0 0 0 284124 chr7 138200070 138200070 C T rs757594988 TRIM24 Synonymous SNV D199D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 284125 chr20 31022562 31022562 A G ASXL1 Nonsynonymous SNV T622A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.41 284126 chr9 74300311 74300311 - AAA rs36080695 CEMIP2 0 0 0.007 0 0 0 0 2 0 0 0 0 284127 chr7 143088819 143088819 G A rs541812228 EPHA1 Stop gain R916X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 284128 chr22 33960918 33960918 G A rs376057149 LARGE1 Synonymous SNV L235L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.06 284129 chr20 36869252 36869252 T C rs555154320 KIAA1755 Synonymous SNV P427P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.118 284130 chr2 186673531 186673531 A G rs201482364 FSIP2 Nonsynonymous SNV I6500V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 284131 chr9 85958160 85958160 G A rs369116502 FRMD3 Synonymous SNV G139G 0.001 0 0.01 0 1 0 0 3 0 0 0 0 11.61 284132 chr9 86327984 86327984 T C rs1048748543 LOC105376114 0 0 0.01 0 0 0 0 3 0 0 0 0 1.735 284133 chr9 90266526 90266526 G A rs199940257 DAPK1 Nonsynonymous SNV D571N 0 0 0.01 0 0 0 0 3 0 0 0 0 13.84 284134 chr7 100607777 100607777 C T MUC3A Synonymous SNV L1252L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 284135 chr20 43836693 43836693 A G rs746230945 SEMG1 Nonsynonymous SNV D252G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.41 284136 chr22 39078437 39078437 A G rs144614555 TOMM22 Nonsynonymous SNV K76R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 284137 chr20 44441350 44441350 C A rs561525053 UBE2C Nonsynonymous SNV R6S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 284138 chrUn_gl000219 56448 56448 C G LOC105379477, LOC283788 0 0 0.007 0 0 0 0 2 0 0 1 0 284139 chrX 100880498 100880498 C A ARMCX3 Nonsynonymous SNV P177T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 284140 chrX 10096655 10096655 A G rs370614476 WWC3 Nonsynonymous SNV E780G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.6 284141 chrX 103267765 103267765 G C rs370071971 H2BFWT Synonymous SNV S156S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.772 284142 chrX 105199496 105199496 G A NRK 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 284143 chr20 49508914 49508914 G A rs773423370 ADNP Synonymous SNV P779P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 284144 chr19 53762436 53762436 G A VN1R2 Nonsynonymous SNV D270N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 284145 chr7 107615432 107615432 A C LAMB1 Nonsynonymous SNV L494R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 284146 chrX 114424739 114424739 G A rs782396163 RBMXL3 Synonymous SNV P245P 0 0 0.007 0 0 0 0 2 0 0 0 0 6.151 284147 chrX 115590089 115590089 C T rs782377354 SLC6A14 Nonsynonymous SNV P633S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 284148 chr7 11464365 11464365 A T rs374333807 THSD7A Nonsynonymous SNV M1114K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.379 284149 chr11 66626208 66626208 C T LRFN4 Synonymous SNV F331F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.34 284150 chr11 67164982 67164982 C G rs761855304 RAD9A Synonymous SNV P300P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.344 284151 chr22 44594524 44594524 C G PARVG Synonymous SNV L245L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.814 284152 chr20 57430243 57430243 G C rs76145268 GNAS Nonsynonymous SNV W579S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.19 284153 chr22 45728409 45728409 C T rs774164516 FAM118A Nonsynonymous SNV P178L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 284154 chr20 60499457 60499457 C T rs202190196 CDH4 Nonsynonymous SNV T528M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 284155 chr22 46631235 46631235 G A PPARA Synonymous SNV A455A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.901 284156 chr22 46654834 46654834 T A PKDREJ Synonymous SNV V1462V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.749 284157 chrX 135496344 135496344 G A rs142504133 ADGRG4 Synonymous SNV K3021K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.032 284158 chr2 216184413 216184413 A G ATIC Synonymous SNV E83E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 284159 chr20 61574878 61574878 G A rs752347409 GID8 Nonsynonymous SNV R116Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 284160 chr22 50657164 50657164 C G rs372126473 TUBGCP6 Nonsynonymous SNV D1597H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 284161 chrX 152835176 152835176 C T ATP2B3 Nonsynonymous SNV A1153V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 14.88 284162 chr20 61957458 61957458 G A rs750082357 COL20A1 Nonsynonymous SNV G1138D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 284163 chrX 153693498 153693498 G A rs781996131 PLXNA3 Synonymous SNV G727G 0 0 0.007 0 0 0 0 2 0 0 0 0 8.064 284164 chrX 18662601 18662601 G A rs754381417 RS1 Synonymous SNV T157T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.28 284165 chrX 26157180 26157180 A G MAGEB18 Synonymous SNV G26G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.008 284166 chr20 62421380 62421380 G A rs914817469 ZBTB46 Nonsynonymous SNV P244L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.354 284167 chr7 139311501 139311501 C T rs767454229 HIPK2 Nonsynonymous SNV D489N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 284168 chrX 13778502 13778502 G A rs145300245 OFD1 Synonymous SNV E601E 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 7.946 284169 chrX 32509526 32509526 G A rs72468679 DMD Synonymous SNV N822N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.1 284170 chr7 141137491 141137491 T C rs1037708144 TMEM178B Nonsynonymous SNV C194R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 284171 chrX 19482393 19482393 C G rs200022856 MAP3K15 Synonymous SNV P219P 0.002 0 0 0 2 0 0 0 1 0 0 0 8.686 284172 chr19 30935219 30935219 C G ZNF536 Nonsynonymous SNV D250E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.594 284173 chrX 47107314 47107314 C T rs757577797 USP11 Synonymous SNV F916F 0 0 0.007 0 0 0 0 2 0 0 0 0 12.21 284174 chrX 53561487 53561487 T G rs148067102 HUWE1 Nonsynonymous SNV N4274T 0 0 0.007 0 0 0 0 2 0 0 0 0 16.29 284175 chr21 35893925 35893925 G A rs145120179 RCAN1 Nonsynonymous SNV P72L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 284176 chr21 35897522 35897522 T - rs764122887 RCAN1 Q64Rfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 284177 chr7 150643974 150643974 C T rs189457419 KCNH2 Synonymous SNV S767S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.33 284178 chrX 102983204 102983204 A G GLRA4 0.002 0 0 0 2 0 0 0 1 0 0 0 8.471 284179 chr10 100167367 100167367 G A rs138501760 PYROXD2 Nonsynonymous SNV P96L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 284180 chr20 2380278 2380278 G A rs201331865 TGM6 Synonymous SNV P248P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 284181 chr10 102003456 102003456 T C rs199666617 CWF19L1 Nonsynonymous SNV H211R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 284182 chr20 2781118 2781118 G A rs781065944 CPXM1 Nonsynonymous SNV T34I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 284183 chrX 147010215 147010215 C T rs148872586 FMR1 Synonymous SNV Y103Y 0.002 0 0 0 2 0 0 0 1 0 0 0 8.193 284184 chr16 21279043 21279043 G A rs148349291 CRYM Nonsynonymous SNV R169C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 284185 chrX 153278550 153278550 G A rs35638718 IRAK1 Nonsynonymous SNV T546M 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 5.389 284186 chr10 11361074 11361074 G A rs185757990 CELF2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.716 284187 chr19 41078280 41078280 A G SPTBN4 Synonymous SNV K2510K 0.002 0 0 0 2 0 0 0 0 0 0 0 4.109 284188 chr7 27213623 27213623 - CCGCCA rs778939773 HOXA10 G102_L103insGG 0.002 0 0 0 2 0 0 0 0 0 0 0 284189 chr16 28877864 28877864 A G rs141195883 SH2B1 Nonsynonymous SNV K150R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 284190 chr16 30016659 30016659 C T rs149816207 INO80E Nonsynonymous SNV P172S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.002 284191 chr16 30369467 30369467 C A rs144176745 TBC1D10B Nonsynonymous SNV R742L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 284192 chr22 19839727 19839727 T A rs111394748 RTL10 Nonsynonymous SNV N20Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.8 284193 chr8 13965683 13965683 G C rs765620587 SGCZ Synonymous SNV S169S 0.003 0 0 0 4 0 0 0 0 0 0 0 5.088 284194 chr8 142190943 142190943 C G rs762045380 DENND3 Synonymous SNV L978L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.643 284195 chr10 124644332 124644332 G A rs530920894 LOC399815 0 0 0.003 0 0 0 0 1 0 0 0 0 1.949 284196 chr16 48218395 48218395 T C rs746068297 ABCC11 Nonsynonymous SNV T1072A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.004 284197 chr20 36687797 36687797 C T RPRD1B Nonsynonymous SNV T177I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 284198 chr7 99725089 99725089 T C rs765177697 MBLAC1 Nonsynonymous SNV L24P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 284199 chr22 24236817 24236817 G A rs931821302 MIF-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.223 284200 chr22 24313484 24313484 G A rs187575420 DDTL Synonymous SNV T98T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.008 284201 chr20 39833133 39833133 C T rs759839299 ZHX3 Nonsynonymous SNV V142M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 284202 chr7 45125512 45125512 G A rs539520980 NACAD Synonymous SNV G89G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 284203 chr8 144789014 144789014 C T rs371318236 CCDC166 Synonymous SNV V390V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.907 284204 chr1 10725170 10725170 C A CASZ1 Nonsynonymous SNV D159Y 0 0.003 0 0 0 1 0 0 0 0 0 0 18.84 284205 chr12 235011 235011 C T rs200670002 IQSEC3 Nonsynonymous SNV T279M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 284206 chr22 28195753 28195753 G A rs143732344 MN1 Nonsynonymous SNV A260V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.99 284207 chr8 145134814 145134814 T G rs376040142 MIR6847 0.001 0 0 0 1 0 0 0 0 0 0 0 6.311 284208 chr12 2659146 2659146 C T rs750843602 CACNA1C Synonymous SNV T476T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.1 284209 chr7 56174061 56174061 C T rs775199912 CHCHD2 Nonsynonymous SNV A16T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 284210 chr8 145668111 145668111 T C rs373424723 TONSL Nonsynonymous SNV Q176R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.947 284211 chr20 56285380 56285380 C A NKILA 0.001 0 0 0 1 0 0 0 0 0 0 0 9.506 284212 chr10 21805852 21805852 T C rs556217118 SKIDA1 Synonymous SNV K300K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 284213 chr16 75446521 75446521 G A CFDP1 Nonsynonymous SNV A105V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 284214 chr20 57428977 57428977 C T rs752004692 GNAS Nonsynonymous SNV P157L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.8 284215 chr22 37470671 37470671 C T rs778717629 TMPRSS6 Nonsynonymous SNV G474S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 284216 chr12 6650774 6650774 C T rs953564484 IFFO1 Nonsynonymous SNV R493Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 284217 chr22 38046214 38046214 G A rs754015130 SH3BP1 Nonsynonymous SNV V458I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 284218 chr8 132996528 132996528 G A rs764336419 EFR3A Nonsynonymous SNV R537Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 284219 chr22 38165310 38165310 C T rs759594464 TRIOBP Synonymous SNV R546R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.66 284220 chr7 769344 769344 C G rs149980915 DNAAF5 Nonsynonymous SNV Q214E 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.05 284221 chr1 24122448 24122448 C T rs142686556 GALE Synonymous SNV T346T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 284222 chr10 49393688 49393688 C G rs116266683 FRMPD2 Nonsynonymous SNV G731A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.402 284223 chr10 49659125 49659125 G A ARHGAP22 Synonymous SNV F259F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.225 284224 chr2 85596906 85596906 A G rs78809694 ELMOD3 Nonsynonymous SNV S105G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 13.57 284225 chr8 144680304 144680304 G A TIGD5 Synonymous SNV V77V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.047 284226 chr22 45218270 45218270 G A rs777857002 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV V136I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.36 284227 chr16 88501728 88501728 G A rs200019229 ZNF469 Nonsynonymous SNV R2617Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.621 284228 chr1 27875260 27875260 C T rs534403874 AHDC1 Nonsynonymous SNV A1123T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 284229 chr1 28071276 28071276 G A FAM76A Nonsynonymous SNV E105K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 284230 chr22 50728390 50728390 G A rs754435231 PLXNB2 Synonymous SNV A208A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.05 284231 chr16 89043135 89043135 A G rs369382457 CBFA2T3 Synonymous SNV P27P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 284232 chr8 10387071 10387071 G T rs147885831 PRSS55 Nonsynonymous SNV G70V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 284233 chr1 32258971 32258971 G A rs749139062 SPOCD1 Nonsynonymous SNV P358S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.14 284234 chr1 32259831 32259831 C T rs142951669 SPOCD1 Synonymous SNV P252P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 284235 chr21 34924145 34924145 A G rs11908823 SON Nonsynonymous SNV T870A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.862 284236 chr1 33583560 33583560 G A rs1056554989 AZIN2 Nonsynonymous SNV G268S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 284237 chr16 89592852 89592852 A G rs771172268 SPG7 Nonsynonymous SNV Y245C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.2 284238 chr8 10480544 10480544 G A rs187433303 RP1L1 Synonymous SNV R56R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 284239 chr8 106811000 106811000 G A rs368018625 ZFPM2 Nonsynonymous SNV R210Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 284240 chr1 37948664 37948664 A G rs754138111 ZC3H12A Nonsynonymous SNV T418A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 284241 chr1 39879405 39879405 C T rs548996855 KIAA0754 Synonymous SNV S1156S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 284242 chr12 46316805 46316805 T C rs146172345 SCAF11 Nonsynonymous SNV K1347E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 284243 chr1 40703362 40703362 T C rs140868941 RLF Synonymous SNV S996S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 284244 chr1 41848191 41848191 C A FOXO6 Synonymous SNV R440R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.13 284245 chr8 75737557 75737557 C T rs138581698 PI15 Nonsynonymous SNV L25F 0.003 0 0 0 3 0 0 0 0 0 0 0 12.81 284246 chr8 81897060 81897060 C G rs745995233 PAG1 Nonsynonymous SNV G276A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 284247 chrX 49088214 49088214 C T CACNA1F Synonymous SNV R67R 0 0.005 0 0 0 2 0 0 0 1 0 0 12.52 284248 chr12 49433864 49433864 G A KMT2D Synonymous SNV N2563N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.671 284249 chrX 54784767 54784767 A G rs141876531 ITIH6 Synonymous SNV R580R 0 0.005 0 0 0 2 0 0 0 1 0 0 0.004 284250 chr10 85992181 85992181 G A rs747613984 LRIT1 Synonymous SNV A458A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.228 284251 chr9 100136864 100136864 G A rs374587265 CCDC180 Nonsynonymous SNV R1591Q 0.003 0 0 0 3 0 0 0 0 0 0 0 25 284252 chr8 25718842 25718842 T C rs772545131 EBF2 Nonsynonymous SNV T383A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.115 284253 chr9 100692802 100692802 G A rs781231718 HEMGN Nonsynonymous SNV A292V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 284254 chr9 101599425 101599425 C T rs201499778 GALNT12 Nonsynonymous SNV R403C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 284255 chr10 98346523 98346525 GCA - rs751439116 TM9SF3 L23del 0 0 0.003 0 0 0 0 1 0 0 0 0 284256 chr9 106862444 106862444 C T SMC2 Nonsynonymous SNV T184I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 284257 chr10 99133397 99133397 C T rs751363250 RRP12 Nonsynonymous SNV R554H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 284258 chr8 28573845 28573845 G A rs745551307 EXTL3 Nonsynonymous SNV S90N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.11 284259 chr8 28989961 28989961 C G rs781018631 KIF13B Nonsynonymous SNV E936Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 284260 chrX 140993881 140993885 TCTCC - rs747751100 MAGEC1 L233Dfs*20 0 0.005 0 0 0 2 0 0 0 1 0 0 284261 chrX 140993892 140993991 GATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCT - MAGEC1 Q234Hfs*6 0 0.005 0 0 0 2 0 0 0 1 0 0 284262 chr1 55474242 55474242 G A BSND Nonsynonymous SNV G302R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.95 284263 chr1 63872785 63872785 A G rs201354339 ALG6 Nonsynonymous SNV Y161C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.3 284264 chr3 131068530 131068530 C T rs759950674 NEK11 Nonsynonymous SNV A479V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.98 284265 chr22 21989278 21989278 T C CCDC116 Nonsynonymous SNV L309P 0.001 0 0 0 1 0 0 0 0 0 0 0 24 284266 chr1 1153867 1153867 C T rs750382527 SDF4 Nonsynonymous SNV D295N 0 0.003 0 0 0 1 0 0 0 0 0 0 23 284267 chr22 24041236 24041236 C T rs900142322 RGL4 Nonsynonymous SNV A560V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.685 284268 chr12 57963875 57963875 G A KIF5A Nonsynonymous SNV R319H 0.002 0 0 0 2 0 0 0 0 0 0 0 19.72 284269 chr17 10297592 10297592 C T rs553069572 MYH8 Nonsynonymous SNV E1714K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 284270 chr1 2160685 2160685 C T rs952491836 SKI Synonymous SNV I160I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.83 284271 chr1 84878133 84878133 A G rs762619086 DNASE2B Nonsynonymous SNV S9G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.089 284272 chr1 2435923 2435923 A C PLCH2 Synonymous SNV G1174G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.268 284273 chr11 106680856 106680856 C A rs747719759 GUCY1A2 Nonsynonymous SNV D519Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 284274 chr22 26707845 26707845 A G SEZ6L Nonsynonymous SNV H598R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 284275 chr11 108059841 108059841 G T NPAT Nonsynonymous SNV T183N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.754 284276 chr11 108356980 108356980 G A POGLUT3 Synonymous SNV Y196Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.588 284277 chr3 14798938 14798938 G C rs375154586 C3orf20 Synonymous SNV P545P 0 0 0 1 0 0 0.003 0 0 0 0 0 3.131 284278 chr17 12921256 12921256 C G rs764509473 ELAC2 Synonymous SNV A3A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.98 284279 chr1 3527764 3527764 - AGC rs752184096 MEGF6 L23_P24insL 0.001 0.003 0 0 1 1 0 0 0 0 0 0 284280 chr8 21997726 21997726 G C rs752398628 REEP4 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.839 284281 chr9 100245401 100245401 G A rs142868591 TDRD7 Nonsynonymous SNV A821T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 284282 chr11 11398824 11398824 C T rs116121337 GALNT18 Synonymous SNV P294P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 284283 chr1 7887247 7887247 C T rs760537957 PER3 Nonsynonymous SNV P753L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.63 284284 chr11 117052576 117052576 C G SIDT2 Nonsynonymous SNV P120R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 284285 chr1 95696536 95696536 C T rs990886236 TLCD4-RWDD3 Synonymous SNV S184S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.28 284286 chr11 117988063 117988063 A C rs775314905 TMPRSS4 Nonsynonymous SNV H359P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 284287 chr11 118133741 118133741 G A rs200170353 MPZL2 Nonsynonymous SNV R44W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 284288 chr17 27186219 27186219 A G rs374876002 ERAL1 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 284289 chr8 39496024 39496024 G A rs749433808 ADAM18 Nonsynonymous SNV G266S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 284290 chr1 110882276 110882276 C T RBM15 Synonymous SNV S83S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 284291 chr1 117307161 117307161 G C CD2 Nonsynonymous SNV L249F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.138 284292 chr8 70981938 70981938 A C rs149635847 PRDM14 Nonsynonymous SNV F53C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 284293 chr8 79629627 79629627 C T ZC2HC1A Nonsynonymous SNV P293S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.5 284294 chr1 22180780 22180780 A G HSPG2 Synonymous SNV Y2116Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 284295 chr3 195597029 195597029 T C rs1038998831 TNK2 Nonsynonymous SNV E524G 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.6 284296 chr11 13032619 13032619 C A rs776405395 RASSF10 Nonsynonymous SNV S499Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.863 284297 chr8 98788336 98788336 - ATCATCAAT rs753385824 LAPTM4B N36_A37insIIN 0.001 0 0 0 1 0 0 0 0 0 0 0 284298 chr8 98788337 98788337 - CTGTGGTACTGTTGATTTTAT rs746844331 LAPTM4B 0.001 0 0 0 1 0 0 0 0 0 0 0 284299 chr9 100849959 100849959 G C TRIM14 Nonsynonymous SNV F374L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.194 284300 chr12 132322772 132322772 G A MMP17 Synonymous SNV P64P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.84 284301 chr1 26694230 26694230 G C rs144494120 ZNF683 Nonsynonymous SNV A58G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 284302 chr11 2291128 2291128 G A ASCL2 Synonymous SNV R145R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 284303 chr1 26793738 26793738 C T DHDDS-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.84 284304 chr11 23440714 23440714 G A rs543443263 MIR8054 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 284305 chr1 28537139 28537139 A G rs978989905 DNAJC8 Synonymous SNV L83L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.116 284306 chrX 23397918 23397918 A G PTCHD1 Nonsynonymous SNV N188D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 284307 chr11 284254 284254 C T rs138549024 NLRP6 Synonymous SNV D741D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 284308 chr11 3243412 3243412 A C rs73412351 MRGPRG-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.416 284309 chr9 135204690 135204690 G T rs771954896 SETX Nonsynonymous SNV F765L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.261 284310 chr9 116791194 116791194 C T rs61735735 ZNF618 Synonymous SNV T310T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.98 284311 chr11 35222654 35222654 C T rs776027428 CD44 Synonymous SNV D273D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.405 284312 chr11 403137 403137 C G rs770036181 PKP3 Synonymous SNV L599L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 284313 chr1 39775322 39775322 A G rs757560141 MACF1 Nonsynonymous SNV Y962C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 284314 chr11 43940641 43940641 T C rs753204131 ALKBH3 Synonymous SNV H241H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.405 284315 chr1 40923039 40923039 G C rs760373365 ZFP69B Nonsynonymous SNV V122L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.29 284316 chr11 46439509 46439509 A G rs774721893 AMBRA1 Synonymous SNV L964L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.66 284317 chr1 160063082 160063082 C T rs372497187 IGSF8 Nonsynonymous SNV R315Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 284318 chr11 47703592 47703592 C T rs964360244 AGBL2 Nonsynonymous SNV R615Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 284319 chr9 139402543 139402543 G A rs200871631 NOTCH1 Nonsynonymous SNV A1125V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.74 284320 chr13 39261549 39261549 G A FREM2 Nonsynonymous SNV G23E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 284321 chr11 47869870 47869870 - CTTCCCGCCGTCGCCGC rs755721902 NUP160 Frameshift insertion M35Afs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 284322 chr1 44446790 44446790 C T rs775520119 B4GALT2 Synonymous SNV A15A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.24 284323 chr9 130485595 130485595 C T rs759264105 TTC16 Synonymous SNV P272P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 284324 chr1 169698495 169698495 G A rs557789502 SELE Nonsynonymous SNV R308C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 284325 chr9 98211513 98211513 C T rs143974523 PTCH1 Synonymous SNV T1162T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.18 284326 chr1 53975604 53975604 G C rs1009160154 GLIS1 Synonymous SNV G485G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.109 284327 chr3 64132747 64132747 G A rs748120404 PRICKLE2 Synonymous SNV Y473Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.04 284328 chr11 5263276 5263276 C T HBBP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.883 284329 chr11 5364174 5364174 C T rs61743611 OR51B5 Nonsynonymous SNV R194Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 284330 chr9 136219324 136219324 G T rs587745216 SURF1 Nonsynonymous SNV P134H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 284331 chr21 47531906 47531906 C T rs755324001 COL6A2 Synonymous SNV C43C 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 11.09 284332 chr21 47545487 47545487 T C rs760227367 COL6A2 Nonsynonymous SNV V642A 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 24.1 284333 chr9 136650999 136650999 G A rs56170103 VAV2 Synonymous SNV Y467Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.281 284334 chr9 137721857 137721857 C T rs749265508 COL5A1 Synonymous SNV G1701G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 284335 chr1 63877642 63877642 C T rs59848367 ALG6 Synonymous SNV F242F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 19.81 284336 chr1 63881622 63881622 T C rs75451833 ALG6 Synonymous SNV F327F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.728 284337 chr1 63999194 63999194 A G rs9436246 EFCAB7 Nonsynonymous SNV S186G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.004 284338 chr1 200776647 200776647 C T rs774676994 CAMSAP2 Synonymous SNV V181V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.68 284339 chr1 67148009 67148009 G A rs61798708 SGIP1 Synonymous SNV S428S 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 8.401 284340 chr1 202129798 202129798 C T rs764879459 PTPN7 Synonymous SNV A46A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 284341 chrX 3007646 3007646 A G ARSF Nonsynonymous SNV N314D 0.002 0 0 0 2 0 0 0 1 0 0 0 18.54 284342 chr9 97321182 97321182 G A rs41281152 PCAT7 0.001 0 0 0 1 0 0 0 0 0 0 0 0.238 284343 chr22 29876805 29876805 T C NEFH Nonsynonymous SNV L185P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 284344 chr1 89476661 89476661 C T GBP3 Nonsynonymous SNV G296S 0 0.005 0 0 0 2 0 0 0 1 0 0 25.3 284345 chr9 99154700 99154700 G A rs201934182 ZNF367 Synonymous SNV A270A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 284346 chr11 57080143 57080143 G A rs201651908 TNKS1BP1 Synonymous SNV P673P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 284347 chr14 23306130 23306130 C A MMP14 Nonsynonymous SNV P35H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 284348 chr1 94374719 94374719 T C GCLM Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 23 284349 chr9 27949633 27949633 G A rs775232627 LINGO2 Nonsynonymous SNV A346V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 284350 chr4 13545849 13545849 C G rs202195290 NKX3-2 Nonsynonymous SNV G64R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 17.21 284351 chr1 109814934 109814934 G A rs780813726 CELSR2 Nonsynonymous SNV R2654Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.02 284352 chr11 59225187 59225187 G A rs147116622 OR4D6 Nonsynonymous SNV V252M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.362 284353 chr9 35842506 35842506 A G TMEM8B Nonsynonymous SNV E24G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.18 284354 chr9 37801089 37801089 G C DCAF10 Nonsynonymous SNV A76P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 284355 chr9 37801173 37801173 G T DCAF10 Nonsynonymous SNV A104S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 284356 chrX 15833950 15833950 C T ZRSR2 Synonymous SNV F236F 0.002 0 0 0 2 0 0 0 1 0 0 0 15.94 284357 chr9 7013947 7013947 G A rs758192956 KDM4C Nonsynonymous SNV D455N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 284358 chr1 114280847 114280847 A G PHTF1 Synonymous SNV S72S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.481 284359 chr1 116937793 116937793 C T rs375738842 ATP1A1 Synonymous SNV D574D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.14 284360 chr11 62343546 62343546 G A TUT1 Nonsynonymous SNV H549Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28 284361 chr1 117944979 117944979 A G rs140264006 MAN1A2 Synonymous SNV P158P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.15 284362 chr1 118454638 118454638 C G rs765296534 GDAP2 Nonsynonymous SNV E179D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 284363 chr14 54420118 54420118 C G BMP4 Nonsynonymous SNV R21S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.19 284364 chr1 228509651 228509651 G A rs1029703946 OBSCN Nonsynonymous SNV E5037K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 284365 chr1 228675484 228675484 G A rs938361737 RNF187 Nonsynonymous SNV A99T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.25 284366 chr1 150117080 150117080 T C VPS45 Nonsynonymous SNV L533S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.951 284367 chr1 233152702 233152702 C G PCNX2 Nonsynonymous SNV E1602Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22 284368 chr1 233490616 233490616 G A rs56236357 MAP3K21 Synonymous SNV S390S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.386 284369 chr1 150621165 150621165 C T rs186291546 GOLPH3L Nonsynonymous SNV A164T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 284370 chr9 91991850 91991850 G A rs775613168 SEMA4D Nonsynonymous SNV P594S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.64 284371 chr1 234040829 234040829 G A rs769039813 SLC35F3 Synonymous SNV G2G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.13 284372 chr9 97218567 97218567 G A rs144765011 MFSD14B Synonymous SNV T358T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.822 284373 chr1 153907280 153907306 TGCTGCTGCTGCTGCTGCTGCTGCTGT - rs763700729 DENND4B Q913_Q921del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 284374 chrX 100496876 100496876 T C rs143515125 DRP2 Nonsynonymous SNV I182T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 284375 chr1 247588140 247588140 C T rs111400208 NLRP3 Synonymous SNV H465H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.229 284376 chr4 2673975 2673975 C T rs772020128 FAM193A Nonsynonymous SNV T445I 0 0 0 1 0 0 0.003 0 0 0 0 0 24 284377 chr1 156737673 156737673 G T rs780562511 PRCC Nonsynonymous SNV G37V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 284378 chrX 132160412 132160412 C G rs201814640 USP26 Nonsynonymous SNV G613R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 284379 chrX 153187243 153187243 G A rs782730924 ARHGAP4 Synonymous SNV S29S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 284380 chr1 161042631 161042631 C T rs139594365 NECTIN4 Synonymous SNV V451V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.41 284381 chr1 163039310 163039310 C T rs771008986 RGS4 Synonymous SNV C12C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.91 284382 chrX 27839685 27839685 G A MAGEB10 Nonsynonymous SNV D88N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 284383 chr10 127456251 127456251 G A MMP21 Synonymous SNV D420D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.095 284384 chr2 26652541 26652541 C G DRC1 Nonsynonymous SNV Q196E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 284385 chrX 47315839 47315839 T G rs201140907 ZNF41 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 16.03 284386 chr10 129906862 129906862 C T rs149039221 MKI67 Nonsynonymous SNV R721H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 284387 chrX 48823376 48823376 C T rs782286317 KCND1 Nonsynonymous SNV R420Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 284388 chrX 48895774 48895774 G A TFE3 Nonsynonymous SNV A138V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 284389 chr2 27801810 27801810 A G rs756626057 C2orf16 Nonsynonymous SNV T791A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.97 284390 chr2 27857752 27857752 C T rs377022277 GPN1 Synonymous SNV F35F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.78 284391 chrX 65819652 65819652 A G EDA2R Nonsynonymous SNV F66L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 284392 chrX 70465304 70465304 G A rs767762255 ZMYM3 Synonymous SNV L952L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.413 284393 chrX 71877466 71877466 A G rs138195744 PHKA1 Nonsynonymous SNV L297P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 284394 chr1 183261948 183261948 G A rs138225647 NMNAT2 Synonymous SNV A73A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 284395 chr2 38523176 38523176 G A ATL2 Nonsynonymous SNV T400I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 284396 chr10 101293162 101293162 T G rs758064188 NKX2-3 Nonsynonymous SNV Y92D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 284397 chr2 39187462 39187462 G A ARHGEF33 Synonymous SNV P672P 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 284398 chr10 111872590 111872590 A G ADD3 Nonsynonymous SNV N84S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 284399 chr10 101993090 101993090 T A rs117713471 CWF19L1 Nonsynonymous SNV D367V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.03 284400 chr10 102768573 102768573 T G rs936546282 PDZD7 Nonsynonymous SNV N918T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 284401 chr1 201031099 201031099 G A rs200224590 CACNA1S Nonsynonymous SNV T1009M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 34 284402 chr2 48808846 48808846 G A STON1, STON1-GTF2A1L Synonymous SNV R358R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.443 284403 chr10 118645884 118645884 C T rs200035304 SHTN1 Nonsynonymous SNV V563M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.913 284404 chr10 112641152 112641152 C A rs181745202 PDCD4 Synonymous SNV R55R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 284405 chr10 72511314 72511314 C T rs142290262 ADAMTS14 Synonymous SNV I836I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 284406 chr10 43622168 43622168 A G rs587778659 RET Nonsynonymous SNV Y808C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 284407 chr10 115609943 115609943 T C rs369336573 DCLRE1A Synonymous SNV E307E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.672 284408 chr1 204985481 204985481 C T rs369599367 NFASC Synonymous SNV D1001D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.36 284409 chr2 70890835 70890835 C T rs149050833 ADD2 Nonsynonymous SNV A635T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.296 284410 chr12 116586415 116586420 TATATA - rs756985108 MIR620 0 0 0.003 0 0 0 0 1 0 0 0 0 284411 chr10 120809363 120809363 G A rs150064739 EIF3A Nonsynonymous SNV R870W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 284412 chr12 120220382 120220382 T C rs780029082 CIT Synonymous SNV A535A 0 0 0.007 0 0 0 0 2 0 0 0 0 6.108 284413 chr10 121431767 121431767 C T rs200479768 BAG3 Nonsynonymous SNV R170W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 284414 chr12 120806868 120806868 G T MSI1 Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.998 284415 chr10 49457199 49457199 G A rs144425229 FRMPD2 Synonymous SNV C56C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.492 284416 chr2 74689805 74689805 G T rs776830090 MOGS Nonsynonymous SNV R371S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 284417 chr1 209946310 209946310 C G rs147791408 TRAF3IP3 Nonsynonymous SNV D240E 0.001 0.005 0 0 1 2 0 0 0 0 0 0 22.8 284418 chr10 51027440 51027440 A G rs186287242 PARG Synonymous SNV A545A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 284419 chr1 220273894 220273894 C T rs756654341 IARS2 Synonymous SNV P151P 0.001 0.005 0 0 1 2 0 0 0 0 0 0 Likely benign 16.66 284420 chr2 98373726 98373726 C T rs559602756 TMEM131 Nonsynonymous SNV G1830S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 284421 chr5 137688548 137688553 GCCTCA - KDM3B S27_A28del 0 0 0 1 0 0 0.003 0 0 0 0 0 284422 chr1 227073323 227073323 C T rs114334281 PSEN2 Synonymous SNV S147S 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign/Likely benign 18.67 284423 chr1 227923067 227923067 C A rs34560898 JMJD4 Nonsynonymous SNV G16C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 15.74 284424 chr10 16918949 16918949 T G rs370778353 CUBN Nonsynonymous SNV Y3018S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 284425 chr12 21453355 21453355 A C rs45629461 SLCO1A2 Synonymous SNV A279A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.256 284426 chr1 228463684 228463684 C T rs369558704 OBSCN Synonymous SNV C2059C 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 12.97 284427 chr1 228475493 228475493 G A rs998872812 OBSCN Nonsynonymous SNV V3215M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 284428 chr5 140752104 140752104 C A rs138338803 PCDHGB3 Nonsynonymous SNV L715M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 22.6 284429 chr10 19676489 19676489 A - MALRD1 N1492Mfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 284430 chr2 128474814 128474814 - G WDR33 Frameshift insertion P929Tfs*30 0 0.003 0 0 0 1 0 0 0 0 0 0 284431 chr2 133542105 133542105 C G rs142329411 NCKAP5 Nonsynonymous SNV S760T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 284432 chr10 27324405 27324405 G A rs3824692 ANKRD26 Synonymous SNV L991L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 7.355 284433 chr10 27458898 27458898 C A rs36121140 MASTL Nonsynonymous SNV T337K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 0.016 284434 chr10 27499979 27499979 G T rs41314978 ACBD5 Nonsynonymous SNV P146Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.2 284435 chr2 158157477 158157477 A G rs781468074 GALNT5 Nonsynonymous SNV D802G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.7 284436 chr1 245848781 245848781 C A rs200317382 KIF26B Synonymous SNV P832P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 284437 chr2 159672248 159672248 T C rs759499986 DAPL1 Nonsynonymous SNV M80T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 3.079 284438 chr2 160028690 160028690 A C TANC1 Synonymous SNV T269T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 284439 chr2 169764295 169764295 A C G6PC2 Synonymous SNV G258G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.334 284440 chr2 175201627 175201627 G A rs763199932 SP9 Nonsynonymous SNV A272T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 284441 chr2 176947167 176947167 C G rs758934719 EVX2 Nonsynonymous SNV E146D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.2 284442 chr2 182363470 182363470 A T ITGA4 Nonsynonymous SNV E554V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 284443 chr2 182414405 182414405 T C CERKL Nonsynonymous SNV H171R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 284444 chr12 57483071 57483071 C T NAB2 Nonsynonymous SNV S6F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 284445 chr10 70670073 70670073 G A rs374841303 DDX50 Nonsynonymous SNV R132H 0.001 0.003 0 3 1 1 0.008 0 0 0 0 0 23.2 284446 chr10 70968563 70968563 C T rs183288053 SUPV3L1 Synonymous SNV R382R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 284447 chr12 64671460 64671460 C G C12orf56 Nonsynonymous SNV E318D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 284448 chr2 21360553 21360553 G A rs538178519 TDRD15 Nonsynonymous SNV V72I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.385 284449 chr10 73992835 73992835 C T rs774088740 ANAPC16 Synonymous SNV P73P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 284450 chr10 75413923 75413923 T C SYNPO2L Nonsynonymous SNV D74G 0.001 0 0 0 1 0 0 0 0 0 0 0 27 284451 chr10 8019267 8019267 G A TAF3 Nonsynonymous SNV G766S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 284452 chr10 871025 871025 A G LARP4B Synonymous SNV S488S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.133 284453 chr12 82752070 82752070 T G rs150805479 CCDC59 Nonsynonymous SNV N29T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 8.001 284454 chr2 214149222 214149222 A T SPAG16 Synonymous SNV R5R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 284455 chr10 93744117 93744117 C G BTAF1 Nonsynonymous SNV R795G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 284456 chr5 70757722 70757722 A G rs755850213 BDP1 Nonsynonymous SNV I190V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 284457 chr2 220072464 220072464 G C rs566376792 ZFAND2B Nonsynonymous SNV R82T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 284458 chr2 220103848 220103848 G T GLB1L Nonsynonymous SNV P253H 0 0.003 0 0 0 1 0 0 0 0 0 0 25 284459 chr2 61463494 61463494 G T USP34 Nonsynonymous SNV Q2270K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 284460 chr2 220412343 220412343 G A rs201900499 TMEM198 Synonymous SNV A94A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.53 284461 chr2 62449578 62449578 A C B3GNT2 Nonsynonymous SNV S75R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.798 284462 chr2 231861135 231861135 A C SPATA3 Nonsynonymous SNV T63P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.418 284463 chr13 20763698 20763698 G A rs529500747 GJB2 Nonsynonymous SNV T8M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.89 284464 chr2 73679730 73679730 A G rs191286546 ALMS1 Nonsynonymous SNV K2025E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.79 284465 chr2 74752160 74752160 C G DQX1 Nonsynonymous SNV C136S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 284466 chr11 130779921 130779921 T C rs200671026 SNX19 Nonsynonymous SNV I56V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 284467 chr13 30805518 30805518 G A rs768144597 KATNAL1 Nonsynonymous SNV S273L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 284468 chr13 33686962 33686962 G T STARD13 Synonymous SNV V678V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.781 284469 chr13 39261590 39261590 C T rs183560588 FREM2 Nonsynonymous SNV L37F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.7 284470 chr13 42875528 42875528 G A rs141178734 AKAP11 Synonymous SNV T882T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.587 284471 chr13 46148999 46148999 T C ERICH6B Nonsynonymous SNV E343G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.69 284472 chr11 110036314 110036314 A C rs949142672 ZC3H12C Nonsynonymous SNV Q835P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 284473 chr11 111745821 111745821 A G rs376050297 FDXACB1 Nonsynonymous SNV I567T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 284474 chr13 52330530 52330530 C T rs747066163 WDFY2 Synonymous SNV I332I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.43 284475 chr2 242757937 242757937 C T rs200439365 NEU4 Nonsynonymous SNV R353W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.49 284476 chr13 60545169 60545169 A T DIAPH3 Synonymous SNV P329P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.408 284477 chr13 60545172 60545172 A T DIAPH3 Synonymous SNV P328P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.1 284478 chr3 9932407 9932407 A G rs143438463 JAGN1 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 22.8 284479 chr13 95271744 95271744 G A rs377626364 GPR180 Nonsynonymous SNV V237I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 284480 chr3 10379932 10379932 G A rs534428399 ATP2B2 Synonymous SNV I1071I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.67 284481 chr2 118582662 118582662 C T rs748307224 DDX18 Synonymous SNV P451P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.99 284482 chr19 50102885 50102885 C T rs1032034017 PRR12 Synonymous SNV G1345G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 284483 chr3 13441315 13441315 C G NUP210 Nonsynonymous SNV D72H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.705 284484 chr2 128747207 128747207 T C rs778626781 SAP130 Nonsynonymous SNV I597V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 284485 chr2 131486897 131486897 - GCTGGCTGCAGCCAC rs535171226 GPR148 A65_V66insAATLA 0 0.003 0.003 0 0 1 0 1 0 0 0 0 284486 chr3 15762615 15762615 T C ANKRD28 Nonsynonymous SNV Y84C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.51 284487 chr3 19924157 19924157 C T EFHB Nonsynonymous SNV S738N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 284488 chr6 152712526 152712526 C T SYNE1 Synonymous SNV E2637E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.2 284489 chr2 163144694 163144694 T C rs72650664 IFIH1 Nonsynonymous SNV K349R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.54 284490 chr2 168106698 168106698 A T XIRP2 Nonsynonymous SNV E2710D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.849 284491 chr11 128838883 128838883 A G rs929219892 ARHGAP32 Synonymous SNV Y1712Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 284492 chr3 42732452 42732452 C T rs139268932 KLHL40 Nonsynonymous SNV T570M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.7 284493 chr14 24046632 24046632 C T JPH4 Nonsynonymous SNV D11N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 284494 chr6 167570839 167570839 T C rs753605916 GPR31 Nonsynonymous SNV R161G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.169 284495 chr2 173421057 173421057 A G PDK1 Nonsynonymous SNV K60R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 284496 chr14 45623953 45623953 T C rs138225703 FANCM Nonsynonymous SNV Y387H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.3 284497 chr3 50379954 50379954 G - ZMYND10 S245Qfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 284498 chr3 50425014 50425014 C T CACNA2D2 Synonymous SNV K165K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.59 284499 chr3 51718639 51718639 A G TEX264 Nonsynonymous SNV T157A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 284500 chr3 52416453 52416453 C T rs372331607 DNAH1 Synonymous SNV F2641F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.35 284501 chr3 52433174 52433174 G A rs763660995 DNAH1 Nonsynonymous SNV R4133H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 284502 chr2 201862209 201862209 C A FAM126B Nonsynonymous SNV M195I 0 0.003 0 0 0 1 0 0 0 0 0 0 25 284503 chr14 59112204 59112204 C T rs371662684 DACT1 Nonsynonymous SNV T251M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 284504 chr14 59112643 59112643 C T rs376695215 DACT1 Synonymous SNV P397P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.528 284505 chr2 202262967 202262967 G A rs201579398 TRAK2 Synonymous SNV F197F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.69 284506 chr3 62358214 62358214 A G rs959459921 FEZF2 Synonymous SNV G110G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.743 284507 chr6 37250727 37250727 C T rs1011670512 TBC1D22B Nonsynonymous SNV S224L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 284508 chr11 62751928 62751928 G A rs765693110 SLC22A6 Nonsynonymous SNV L79F 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 284509 chr2 216211632 216211632 A G rs372351595 ATIC Nonsynonymous SNV I491V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 284510 chr6 42931357 42931357 C T CNPY3-GNMT, GNMT Synonymous SNV H206H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.34 284511 chr3 110912152 110912152 C T rs145238359 NECTIN3 Nonsynonymous SNV R464W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 284512 chr20 13912314 13912314 T C rs374565193 SEL1L2 Nonsynonymous SNV N73S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 284513 chr2 220313370 220313370 A T rs146216760 SPEG Nonsynonymous SNV E497V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 27.9 284514 chr14 95108073 95108073 G A rs758527784 SERPINA13P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.871 284515 chr20 34090785 34090785 - A CEP250 Frameshift insertion L899Tfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 284516 chr3 128369597 128369597 G C rs144093169 RPN1 Nonsynonymous SNV T16S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.496 284517 chr2 234719459 234719459 C T MROH2A Nonsynonymous SNV A823V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 284518 chr3 129284783 129284783 G A PLXND1 Synonymous SNV L1423L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.94 284519 chr3 142254970 142254970 C T rs377689383 ATR Nonsynonymous SNV V1203I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.82 284520 chr3 142567103 142567103 T C rs754792836 PCOLCE2 Nonsynonymous SNV N135S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.778 284521 chr3 369975 369975 G A rs369767790 CHL1 Nonsynonymous SNV R108H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 284522 chr20 60886293 60886293 C T LAMA5 Nonsynonymous SNV R3338Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.076 284523 chr3 169099162 169099162 G C rs369363004 MECOM Nonsynonymous SNV P63R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 284524 chr3 182605400 182605400 T A rs533716931 ATP11B Synonymous SNV T914T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 284525 chr3 14214475 14214475 C T rs183478541 XPC Nonsynonymous SNV G64E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 284526 chr11 76507390 76507390 G C rs768003667 TSKU Nonsynonymous SNV E244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.144 284527 chr3 186915633 186915633 G C rs74861372 LOC101929106 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.93 284528 chr21 30963545 30963545 T C rs201574479 GRIK1 Nonsynonymous SNV I261V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.404 284529 chr3 38645516 38645516 C T rs45627438 SCN5A Nonsynonymous SNV R526H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 18.75 284530 chr3 38739455 38739455 G A rs138532656 SCN10A Synonymous SNV D1654D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 284531 chr7 107414547 107414547 C T SLC26A3 Nonsynonymous SNV D609N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.7 284532 chr11 60620742 60620742 A C rs142523235 PTGDR2 Nonsynonymous SNV C152G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 284533 chr3 39225798 39225798 T C XIRP1 Synonymous SNV K396K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 284534 chr21 34726076 34726076 C T rs369713150 IFNAR1 Nonsynonymous SNV S476F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 284535 chr21 34892724 34892724 G A rs147558295 GART Nonsynonymous SNV A550V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.25 284536 chr11 61058373 61058373 C T rs146750087 VWCE Nonsynonymous SNV G108S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 284537 chr3 196214336 196214336 C T rs761383055 RNF168 Synonymous SNV R164R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 284538 chr21 41496170 41496170 G A rs201137339 DSCAM Synonymous SNV N1216N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.035 284539 chr15 76584778 76584778 G A rs760557143 ETFA Synonymous SNV F66F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 284540 chr21 43187193 43187193 G T RIPK4 Synonymous SNV G3G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 284541 chr11 94204808 94204808 C T rs774144789 MRE11 Synonymous SNV Q259Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.14 284542 chr11 94917678 94917678 C T rs189757692 SESN3 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 284543 chr3 47385207 47385207 G A KLHL18 Nonsynonymous SNV A501T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.462 284544 chr15 81230149 81230149 G A rs761161256 CEMIP Nonsynonymous SNV R1079Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 284545 chr4 5642347 5642347 G C rs141287105 EVC2 Nonsynonymous SNV T375R 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 284546 chr12 101560436 101560436 T C rs141564311 SLC5A8 Synonymous SNV L454L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.296 284547 chr12 101739442 101739442 G A rs144785642 UTP20 Nonsynonymous SNV M1572I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 21.6 284548 chr3 48669777 48669777 G A rs755827427 SLC26A6 Synonymous SNV A141A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.22 284549 chr4 6698640 6698640 C T rs373388076 S100P Synonymous SNV A53A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.05 284550 chr3 49743447 49743447 C T rs190557398 RNF123 Synonymous SNV Y779Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 284551 chr3 49967115 49967115 G C rs978113547 MON1A Nonsynonymous SNV L69V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.648 284552 chr3 50211272 50211272 C T rs774920210 SEMA3F Synonymous SNV N53N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.931 284553 chr3 51750009 51750009 G A rs765883696 GRM2 Synonymous SNV A362A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.784 284554 chr4 8376819 8376819 G A rs199766636 ACOX3 Nonsynonymous SNV H572Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.617 284555 chr4 8583218 8583218 C T rs150913966 GPR78 Nonsynonymous SNV A170V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.4 284556 chr3 52356728 52356728 G A rs758289927 DNAH1 Synonymous SNV P90P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.28 284557 chr3 52643959 52643959 C A PBRM1 Nonsynonymous SNV G646V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 284558 chr12 109865336 109865336 C T rs375593902 MYO1H Nonsynonymous SNV R616W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 284559 chr15 90344361 90344361 G A ANPEP Synonymous SNV Y600Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 284560 chr15 99798605 99798605 A G HSP90B2P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.787 284561 chr16 1004376 1004376 C G rs1030718844 LMF1 Nonsynonymous SNV V53L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 284562 chr4 39878633 39878633 T C rs915155811 PDS5A Synonymous SNV T711T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.699 284563 chr12 120660405 120660405 C T PXN Synonymous SNV R214R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 284564 chr4 47625651 47625651 T G rs770719777 CORIN Nonsynonymous SNV H722P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 284565 chr16 14041745 14041745 C T rs139406689 ERCC4 Synonymous SNV S764S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.652 284566 chr16 15728682 15728682 G A rs201712699 MARF1 Nonsynonymous SNV T313I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 284567 chr4 56336906 56336906 G T rs766067893 CLOCK Nonsynonymous SNV T139N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 284568 chr12 46320251 46320251 C T rs370077453 SCAF11 Nonsynonymous SNV R1078H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 284569 chr16 2049557 2049557 G A ZNF598 Nonsynonymous SNV P665S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 284570 chr12 124838663 124838663 G T NCOR2 Synonymous SNV I1213I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.402 284571 chr3 111603369 111603369 T G PHLDB2 Nonsynonymous SNV S149A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.6 284572 chr3 111898545 111898545 C T rs201650549 SLC9C1 Nonsynonymous SNV E870K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 284573 chr12 1299172 1299172 - A ERC1 Frameshift insertion N770Kfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 284574 chr16 2142083 2142083 C G rs201509188 PKD1 Synonymous SNV S3791S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.55 284575 chr12 132632491 132632491 C T NOC4L Nonsynonymous SNV P224S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 284576 chr16 23707242 23707242 C T rs139607989 ERN2 Nonsynonymous SNV R476H 0 0 0.007 0 0 0 0 2 0 0 0 0 22.4 284577 chr12 52435685 52435685 G A rs751337513 NR4A1 Synonymous SNV L3L 0.002 0 0 0 2 0 0 0 0 0 0 0 4.845 284578 chr12 52602114 52602114 G C rs78682565 C12orf80 Synonymous SNV A4A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.6 284579 chr16 2871437 2871437 G T rs377254300 PRSS21 Nonsynonymous SNV G259V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 284580 chr4 85696135 85696135 C T WDFY3 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 284581 chr16 31150658 31150658 C G rs752642543 PRSS36 Nonsynonymous SNV R687P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 284582 chr16 31273086 31273086 C T rs535986528 ITGAM Synonymous SNV F34F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 284583 chr16 31391315 31391315 C T rs143932593 ITGAX Nonsynonymous SNV R997W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 284584 chr12 54893143 54893143 G A rs749263836 NCKAP1L Nonsynonymous SNV C36Y 0.003 0 0 0 3 0 0 0 0 0 0 0 24 284585 chr3 124449351 124449351 G A rs747016038 UMPS Synonymous SNV L11L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.362 284586 chr16 3593457 3593457 G A rs188220171 NLRC3 Synonymous SNV A969A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 284587 chr16 3712005 3712005 C T rs79866444 TRAP1 Synonymous SNV T588T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.65 284588 chr16 4625348 4625348 C T C16orf96 Synonymous SNV L289L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.961 284589 chr12 58008479 58008479 G A ARHGEF25 Nonsynonymous SNV R245Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 284590 chr18 47367765 47367765 A G MYO5B Synonymous SNV L1557L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.232 284591 chr12 43824183 43824183 T C rs750760556 ADAMTS20 Nonsynonymous SNV H1118R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.445 284592 chr16 50756571 50756571 C A rs104895452 NOD2 Nonsynonymous SNV A891D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 33 284593 chr16 52118085 52118085 A - LINC00919 0 0 0.003 0 0 0 0 1 0 0 0 0 284594 chr18 55361829 55361829 G A rs145750280 ATP8B1 Synonymous SNV N288N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.507 284595 chr16 56536323 56536323 A G rs201146063 BBS2 Nonsynonymous SNV M329T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.28 284596 chr12 109678890 109678890 A T rs368342694 ACACB Nonsynonymous SNV E1609V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 284597 chr3 137991882 137991882 G A rs185968098 ARMC8 Nonsynonymous SNV R445Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23 284598 chr16 56913052 56913052 C T rs766672339 SLC12A3 Synonymous SNV C416C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.65 284599 chr12 110224603 110224603 C T rs148171058 TRPV4 Nonsynonymous SNV V643I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22 284600 chr12 110475337 110475337 A G rs144212333 ANKRD13A Nonsynonymous SNV Q584R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 284601 chr16 57764937 57764937 C G rs115507227 DRC7 Nonsynonymous SNV S764C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 284602 chr16 57792815 57792815 G A rs111313750 KIFC3 Nonsynonymous SNV S828L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.89 284603 chr12 49689342 49689342 A G PRPH Nonsynonymous SNV Q120R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 284604 chr12 112623139 112623139 T C HECTD4 Nonsynonymous SNV M3221V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.322 284605 chr12 113715120 113715120 C T rs758966994 TPCN1 Nonsynonymous SNV R311C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 284606 chr12 7586205 7586205 C - CD163L1 T71Lfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 284607 chrX 48554217 48554217 G A SUV39H1 Nonsynonymous SNV G3R 0.003 0 0 1 3 0 0.003 0 1 0 0 0 4.56 284608 chrX 48847503 48847503 C T rs151043808 GRIPAP1 Synonymous SNV G159G 0.003 0.005 0 1 4 2 0.003 0 1 1 0 0 Benign 10.12 284609 chr16 69782205 69782205 C T rs558915977 NOB1 Nonsynonymous SNV V252M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 284610 chrX 54823497 54823497 C T rs756538637 ITIH6 Synonymous SNV T45T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.796 284611 chrX 63410158 63410158 T C rs757257940 AMER1 Nonsynonymous SNV I1003M 0.003 0 0 1 3 0 0.003 0 1 0 0 0 0.002 284612 chrX 63568564 63568564 C T rs749084903 MTMR8 Nonsynonymous SNV M236I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.08 284613 chr4 176622848 176622848 G C GPM6A Synonymous SNV L29L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.812 284614 chr12 121613205 121613205 A G P2RX7 Nonsynonymous SNV Y299C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 284615 chrX 66863132 66863132 G C rs777461721 AR Nonsynonymous SNV D551H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 284616 chr12 121678327 121678327 - TTTTT rs778701848 CAMKK2 Frameshift insertion G539Kfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 284617 chr12 122691767 122691767 T C rs144932299 B3GNT4 Synonymous SNV A298A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.851 284618 chr12 122709163 122709163 C A rs945936652 DIABLO Nonsynonymous SNV V27L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.114 284619 chrX 84559460 84559460 G A POF1B Synonymous SNV Y485Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.547 284620 chr12 123031999 123031999 C T rs747849684 KNTC1 Nonsynonymous SNV P285L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.074 284621 chrX 96192338 96192338 G A rs41300144 DIAPH2 Nonsynonymous SNV R399Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.3 284622 chr4 187534385 187534385 G C rs778337700 FAT1 Nonsynonymous SNV T3114R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 284623 chrX 129629512 129629512 T C rs373545516 DENND10P1 0 0 0 1 0 0 0.003 0 0 0 0 0 1.74 284624 chr16 84256365 84256365 G A rs371318548 KCNG4 Stop gain R340X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 284625 chr5 9052026 9052026 G A rs375733432 SEMA5A Nonsynonymous SNV T935M 0 0.003 0 0 0 1 0 0 0 0 0 0 24 284626 chr8 109001433 109001433 G A rs766437369 RSPO2 Nonsynonymous SNV S45F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 284627 chr8 110457643 110457643 C A rs200379443 PKHD1L1 Nonsynonymous SNV L1849M 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 284628 chr5 14366996 14366996 T G rs761866494 TRIO Nonsynonymous SNV S928A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 284629 chr5 31515209 31515209 G A rs745865282 DROSHA Synonymous SNV P355P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.841 284630 chr4 1343561 1343561 C T UVSSA Synonymous SNV A116A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 284631 chr5 33937384 33937384 G T rs1050898469 RXFP3 Nonsynonymous SNV R180L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 284632 chr4 2272522 2272522 G A rs575982537 ZFYVE28 Nonsynonymous SNV P835L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 284633 chr12 67700271 67700271 G A CAND1 Synonymous SNV E941E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.871 284634 chr12 1703095 1703095 C G rs368750848 FBXL14 Synonymous SNV R46R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.009 284635 chr5 35026570 35026570 G C rs572826520 AGXT2 Nonsynonymous SNV T272R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 284636 chr1 914765 914765 G A rs371075068 PERM1 Nonsynonymous SNV R549W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 284637 chr5 39003662 39003662 A G RICTOR Synonymous SNV I86I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.99 284638 chr19 5694843 5694843 C T LONP1 Nonsynonymous SNV V499M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 284639 chr4 6863800 6863800 G T rs370637729 KIAA0232 Nonsynonymous SNV R564L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 284640 chr19 6746071 6746071 G A TRIP10 Nonsynonymous SNV G339D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 284641 chr5 55088469 55088469 A G rs757235075 DDX4 Nonsynonymous SNV I286V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.39 284642 chr5 71756484 71756484 C T rs373809589 ZNF366 Synonymous SNV P280P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 284643 chr17 18002987 18002987 G A rs376536885 DRG2 Synonymous SNV T139T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.93 284644 chr12 48383056 48383056 G C rs202002349 COL2A1 Synonymous SNV V290V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.06 284645 chr1 9931321 9931321 C T rs757381176 CTNNBIP1 Synonymous SNV E37E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.88 284646 chr4 39254802 39254802 A G rs765314003 WDR19 Synonymous SNV K762K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.357 284647 chr17 26905761 26905761 C G rs918621937 SPAG5 Nonsynonymous SNV E1043Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 284648 chr4 55595648 55595648 C A rs775274159 KIT Nonsynonymous SNV S713Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.57 284649 chr1 17603075 17603075 C T rs148039282 PADI3 Nonsynonymous SNV P457S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.7 284650 chr5 112102960 112102960 C T rs139196838 APC Nonsynonymous SNV R109W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 284651 chr13 21746644 21746644 - GCTTTCCTCTCCGTCCAGCGCTCACTGCAGCCGGGCCGTCTCGCAGTCCAGCG SKA3 0.001 0 0 0 1 0 0 0 0 0 0 0 284652 chr19 11218079 11218079 G A rs148698650 LDLR Nonsynonymous SNV E109K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 284653 chr19 11527511 11527511 C T rs200532104 RGL3 Nonsynonymous SNV G124R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 284654 chr19 12126706 12126706 G A rs771051239 ZNF433 Nonsynonymous SNV R326C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 284655 chr17 38430107 38430107 T A WIPF2 Nonsynonymous SNV Y346N 0 0 0.003 0 0 0 0 1 0 0 0 0 30 284656 chr4 85741254 85741254 T A rs748276750 WDFY3 Synonymous SNV G559G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 284657 chr5 137518995 137518995 C T rs745761982 KIF20A Nonsynonymous SNV R324C 0 0.003 0 0 0 1 0 0 0 0 0 0 32 284658 chr5 140044543 140044543 G T WDR55 Stop gain E16X 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 284659 chr5 140181269 140181269 G C rs782708273 PCDHA3 Nonsynonymous SNV G163R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 284660 chr17 39190954 39190954 - CAGCAGCTTGGCTGGCAGCAGCTGGTCTCACAGCAGCTTGGCTGGCAGCAGCTGGTCTCA KRTAP1-3 C40_Q41insETSCCQPSCCETSCCQPSCC 0 0 0.003 0 0 0 0 1 0 0 0 0 284661 chr13 51796669 51796669 A G FAM124A Nonsynonymous SNV E11G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 284662 chr17 39577171 39577171 C G rs150463302 KRT37 Nonsynonymous SNV G437R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.125 284663 chr12 6638165 6638165 G A rs754345866 NCAPD2 Nonsynonymous SNV E1178K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 284664 chr1 32673673 32673673 C T rs41306593 IQCC Nonsynonymous SNV P544L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.3 284665 chr1 33138261 33138261 A G rs138140913 RBBP4 Synonymous SNV Q353Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.13 284666 chr12 7045912 7045912 - CAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQ 0.002 0 0 0 2 0 0 0 0 0 0 0 284667 chr17 41002207 41002207 A G AOC2 Nonsynonymous SNV N678D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 284668 chr5 149681845 149681845 C A rs747192346 ARSI Nonsynonymous SNV G31V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.99 284669 chr8 6479054 6479054 C G rs200820759 MCPH1 Nonsynonymous SNV S672W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.8 284670 chr4 148579007 148579007 T A rs746055218 PRMT9 Nonsynonymous SNV L117F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 284671 chr8 8176315 8176315 G - PRAG1 A1191Qfs*24 0 0 0 1 0 0 0.003 0 0 0 0 0 284672 chr5 157218886 157218886 T C rs756278040 CLINT1 Nonsynonymous SNV E402G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.59 284673 chr4 155219749 155219749 G C rs765023017 DCHS2 Nonsynonymous SNV S1906C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.42 284674 chr5 169535155 169535155 C T rs115399307 FOXI1 Nonsynonymous SNV T226I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.439 284675 chr4 160274910 160274910 C T rs757986482 RAPGEF2 Nonsynonymous SNV H1294Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.982 284676 chr5 177022348 177022348 C T TMED9 Synonymous SNV I213I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 284677 chr5 177571106 177571106 C T rs368667116 RMND5B Nonsynonymous SNV R218W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 284678 chr17 53007452 53007452 C T rs777100387 TOM1L1 Nonsynonymous SNV R170W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 284679 chr4 183594217 183594217 G A TENM3 Nonsynonymous SNV G391S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 284680 chr14 23855584 23855584 G A rs61742474 MYH6 Synonymous SNV H1633H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.601 284681 chr14 24572008 24572008 G A rs376631075 PCK2 Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 284682 chr17 62530790 62530792 TAT - rs769661645 CEP95 Y506del 0 0 0.003 0 0 0 0 1 0 0 0 0 284683 chr5 1073758 1073758 C T rs148462588 SLC12A7 Nonsynonymous SNV R744Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.407 284684 chr5 1087113 1087113 C T SLC12A7 Nonsynonymous SNV G194R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 284685 chr19 38103623 38103623 A C ZNF540 Nonsynonymous SNV Q449P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.842 284686 chr6 13281734 13281734 C T rs901570251 LOC100130357 0 0.003 0 0 0 1 0 0 0 0 0 0 8.129 284687 chr19 39218966 39218966 G A ACTN4 Nonsynonymous SNV G783D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 284688 chr19 39336562 39336562 C T rs771265594 HNRNPL Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 284689 chr6 25862211 25862211 C T rs376483140 SLC17A3 Nonsynonymous SNV G117D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 284690 chr14 103592893 103592893 G A rs148669851 TNFAIP2 Synonymous SNV K33K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.25 284691 chr17 73700886 73700886 C A SAP30BP Synonymous SNV R202R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 284692 chr17 73897301 73897301 C T rs773248628 MRPL38 Synonymous SNV T215T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 284693 chr13 49795332 49795332 T G rs200170117 MLNR Nonsynonymous SNV S287A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 284694 chr17 76046457 76046457 T C rs368827781 TNRC6C Synonymous SNV D438D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 284695 chr17 76798583 76798583 T C rs749475768 USP36 Nonsynonymous SNV M949V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 284696 chr17 76803224 76803224 C T rs764603428 USP36 Synonymous SNV A634A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 284697 chr1 111060864 111060864 A C KCNA10 Nonsynonymous SNV D182E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.935 284698 chr6 43969821 43969821 G A rs143456302 C6orf223 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.691 284699 chr14 104643818 104643818 A G rs777441499 KIF26A Nonsynonymous SNV S1565G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 284700 chr17 8076864 8076864 C T rs76164795 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 5.388 284701 chr14 105843206 105843206 C T rs137957000 PACS2 Synonymous SNV S301S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 284702 chr6 52883134 52883134 T A rs936019387 CILK1 Synonymous SNV P219P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.726 284703 chr6 56482895 56482895 C T DST Synonymous SNV L1979L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.58 284704 chr6 71235018 71235020 ATC - rs756580835 FAM135A H516del 0 0.003 0.007 0 0 1 0 2 0 0 0 0 284705 chr5 111540160 111540160 G A rs368831750 EPB41L4A Nonsynonymous SNV R430C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 284706 chr15 65116304 65116304 G C rs184599780 PIF1 Nonsynonymous SNV F77L 0.002 0 0 0 2 0 0 0 0 0 0 0 24 284707 chr1 153925842 153925842 T C rs746633873 CRTC2 Synonymous SNV T169T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.315 284708 chr18 29419382 29419382 T C rs149708037 TRAPPC8 Synonymous SNV P1292P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.828 284709 chr6 76782155 76782155 T C rs373222058 IMPG1 Synonymous SNV Q17Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.317 284710 chr14 23310779 23310779 C T rs554056813 MMP14 Nonsynonymous SNV A63V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 284711 chr5 129241317 129241317 C T CHSY3 Synonymous SNV Y265Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.41 284712 chr6 88239286 88239286 C G rs764639091 RARS2 Nonsynonymous SNV E109D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.83 284713 chr9 271626 271626 G T rs192864327 DOCK8 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 284714 chr18 43481011 43481011 G A rs201777260 EPG5 Synonymous SNV D1532D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 284715 chr5 132203212 132203212 G A rs761467699 UQCRQ Nonsynonymous SNV G63R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 284716 chr1 156701857 156701857 A G rs34965210 RRNAD1 Synonymous SNV P62P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.49 284717 chr9 35043185 35043185 C T rs751552856 C9orf131 Nonsynonymous SNV R152C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 284718 chr15 41624538 41624538 C T OIP5 Synonymous SNV R74R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 284719 chr18 53695806 53695806 T C rs4392148 LOC642484 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 284720 chr1 158589121 158589121 G A rs41273519 SPTA1 Nonsynonymous SNV R2141W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.9 284721 chr18 56203473 56203473 C T ALPK2 Nonsynonymous SNV G1316S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.488 284722 chr14 36944002 36944002 A T SFTA3 0.001 0 0 0 1 0 0 0 0 0 0 0 3.105 284723 chr6 107475977 107475977 C T rs201388841 PDSS2 Nonsynonymous SNV R349Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 284724 chr18 56247235 56247235 C T rs200973221 ALPK2 Nonsynonymous SNV R258H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.008 284725 chr1 159898500 159898500 C T rs199795049 IGSF9 Nonsynonymous SNV G893E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.4 284726 chr9 4625417 4625417 C T SPATA6L Synonymous SNV R102R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.569 284727 chr1 160209918 160209918 G A rs780736325 DCAF8 Nonsynonymous SNV R98C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 284728 chr15 44176936 44176936 C T rs146504694 FRMD5 Synonymous SNV P304P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 284729 chr14 53124678 53124678 A G rs773115400 ERO1A Synonymous SNV H255H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.29 284730 chr14 53235637 53235637 A C STYX Nonsynonymous SNV H195P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 284731 chr18 905490 905490 G T ADCYAP1 Nonsynonymous SNV G35W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 284732 chr6 144507786 144507788 CTT - rs760492745 STX11 L9del 0 0.003 0 0 0 1 0 0 0 0 0 0 284733 chr6 147055100 147055100 G A ADGB Nonsynonymous SNV A910T 0 0.003 0 0 0 1 0 0 0 0 0 0 26 284734 chr19 10939758 10939758 C T rs745382488 DNM2 Nonsynonymous SNV S698L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.11 284735 chr14 72165762 72165762 C T rs200605676 SIPA1L1 Nonsynonymous SNV R1147W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 284736 chr1 182787685 182787685 A C rs148306247 NPL Nonsynonymous SNV E137A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.29 284737 chr5 153783664 153783664 G T rs201377561 GALNT10 Nonsynonymous SNV V353L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.7 284738 chr6 152651648 152651648 C T rs200419328 SYNE1 Synonymous SNV A4653A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.879 284739 chr15 72037448 72037448 C T rs778438600 THSD4 Nonsynonymous SNV S277L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 284740 chr19 12882062 12882062 C T HOOK2 Synonymous SNV R224R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 284741 chr1 186646823 186646823 A G rs199735403 PTGS2 Synonymous SNV D199D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.159 284742 chr15 26793069 26793069 C T rs75914945 GABRB3 Synonymous SNV R346R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 13.22 284743 chr15 73542053 73542053 T C NEO1 Synonymous SNV L629L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.29 284744 chr19 1395423 1395423 G A rs868590833 NDUFS7 Nonsynonymous SNV G193D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 284745 chr19 14044752 14044752 G A rs369749137 PODNL1 Nonsynonymous SNV R152C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 284746 chr15 74704019 74704019 C T SEMA7A Synonymous SNV V471V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 284747 chr5 172341770 172341770 G A rs766575211 ERGIC1 Nonsynonymous SNV D102N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 284748 chr6 160553308 160553308 C T rs374227992 SLC22A1 Nonsynonymous SNV A187V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 284749 chr19 16639055 16639055 G A CHERP Nonsynonymous SNV P381S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.4 284750 chr5 180041138 180041138 G A rs150040385 FLT4 Synonymous SNV F1087F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.11 284751 chr1 206320308 206320308 G A rs376548326 CTSE Nonsynonymous SNV D76N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 284752 chr7 1131859 1131859 C T rs376219774 GPER1 Synonymous SNV C165C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.078 284753 chr20 9561141 9561141 T C rs571790879 PAK5 Nonsynonymous SNV D214G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.662 284754 chr15 87066069 87066069 T A rs536557576 AGBL1 Nonsynonymous SNV L862M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 284755 chr7 4821347 4821347 C T rs761446953 AP5Z1 Nonsynonymous SNV R110W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 284756 chr1 213032282 213032282 C T rs369434267 FLVCR1 Nonsynonymous SNV P163L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.2 284757 chr19 21720656 21720656 G T ZNF429 Nonsynonymous SNV A537S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 284758 chr1 223165442 223165442 C T rs373716306 DISP1 Synonymous SNV C293C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 14.9 284759 chr7 12409543 12409543 T C rs754718192 VWDE Nonsynonymous SNV T682A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 284760 chr7 13978849 13978849 C T ETV1 Synonymous SNV L28L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.37 284761 chr7 27239081 27239081 - GGC rs750672289 HOXA13 A205_F206insA 0 0.003 0 0 0 1 0 0 0 0 0 0 284762 chr6 35716605 35716605 C G rs746241792 ARMC12 Synonymous SNV S327S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 284763 chr1 230472880 230472880 G A rs767901578 PGBD5 Nonsynonymous SNV T350M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 284764 chr1 230840011 230840011 A G AGT Synonymous SNV A399A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.274 284765 chr1 230903335 230903335 C T rs1012217126 CAPN9 Synonymous SNV A132A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.21 284766 chr7 39243864 39243864 C T rs373840004 POU6F2 Nonsynonymous SNV P103L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 284767 chr7 44096482 44096482 G A rs61735009 DBNL Nonsynonymous SNV V49M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.136 284768 chr15 55912358 55912358 G A PRTG Nonsynonymous SNV S1102L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 284769 chr15 63956732 63956732 G A rs751039538 HERC1 Nonsynonymous SNV R2873C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 284770 chr15 64365168 64365168 G A rs746761595 CIAO2A Nonsynonymous SNV R149W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.6 284771 chr7 48353978 48353978 A G rs565990182 ABCA13 Synonymous SNV K3277K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.672 284772 chr15 67547258 67547258 C G IQCH Nonsynonymous SNV H8Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.162 284773 chr19 42777689 42777689 C G rs993847863 CIC Nonsynonymous SNV A585G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 284774 chr19 42799162 42799162 C A rs775743872 CIC Nonsynonymous SNV P1549H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 284775 chr19 4292680 4292680 G A rs148804982 TMIGD2 Synonymous SNV P135P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.818 284776 chr19 43965819 43965819 G A rs201832907 LYPD3 Nonsynonymous SNV P242L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 284777 chr7 51096126 51096126 G T rs893615258 COBL Nonsynonymous SNV H889Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.079 284778 chr16 30566635 30566635 G A rs749000282 ZNF764 Synonymous SNV A368A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.656 284779 chr20 62844941 62844941 G A rs752189313 MYT1 Synonymous SNV K524K 0.002 0 0 0 2 0 0 0 0 0 0 0 13.42 284780 chr19 44635924 44635924 G A rs199740462 ZNF225 Nonsynonymous SNV G386D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 284781 chr19 44681375 44681375 C T rs535521508 ZNF226 Nonsynonymous SNV R654W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 284782 chr16 31418853 31418853 A G ITGAD Nonsynonymous SNV H241R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 284783 chr19 4491603 4491603 T C rs199677808 HDGFL2 Nonsynonymous SNV L177P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 284784 chr19 44933501 44933501 G A rs376788320 ZNF229 Synonymous SNV G479G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.405 284785 chr15 81221478 81221478 G A rs181293639 CEMIP Nonsynonymous SNV G859S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 284786 chr7 81603834 81603834 T A CACNA2D1 Nonsynonymous SNV N664Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 30 284787 chr7 86547811 86547811 T C KIAA1324L Nonsynonymous SNV T274A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 284788 chr19 45853933 45853940 GTGAGTCT - KLC3 R436Hfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 284789 chr19 46457053 46457053 G A rs148155367 NOVA2 Synonymous SNV P127P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 284790 chr6 90405635 90405635 G A rs768508806 MDN1 Nonsynonymous SNV R3154W 0 0.003 0 0 0 1 0 0 0 0 0 0 19.4 284791 chr6 90578771 90578771 A G rs779914626 CASP8AP2 Nonsynonymous SNV K1921R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 284792 chr21 41465723 41465723 C T rs549482375 DSCAM Nonsynonymous SNV V1259I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 17.75 284793 chr16 58030678 58030678 C T rs201810566 ZNF319 Nonsynonymous SNV A498T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.947 284794 chr6 112443383 112443383 G A rs781998824 LAMA4 Nonsynonymous SNV P1437S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.19 284795 chr10 34408630 34408630 C T rs200437339 PARD3 Synonymous SNV S1084S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 284796 chr2 27457406 27457406 T C rs376812858 CAD Synonymous SNV I1150I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.735 284797 chr19 50333353 50333353 G A rs778397363 MED25 Nonsynonymous SNV G233S 0 0 0.007 0 0 0 0 2 0 0 0 0 11.54 284798 chr19 50864260 50864260 C T rs200603901 NAPSA Synonymous SNV P202P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 284799 chr10 50004420 50004420 C T rs367590005 WDFY4 Synonymous SNV G1445G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.39 284800 chr2 33820594 33820594 A G rs757218414 FAM98A Nonsynonymous SNV V55A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.823 284801 chr21 47735449 47735449 C T rs146598443 C21orf58 Nonsynonymous SNV R128Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.47 284802 chr17 1371776 1371776 G A rs374091489 MYO1C Synonymous SNV A875A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 284803 chr10 50827821 50827821 C T rs61731734 CHAT Synonymous SNV Y28Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 5.087 284804 chr16 31087940 31087940 C T rs199961738 ZNF646 Nonsynonymous SNV P99S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 284805 chr7 100855929 100855929 G C rs143577626 PLOD3 Nonsynonymous SNV P296R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27 284806 chr7 105182891 105182891 C T rs777242801 RINT1 Stop gain R26X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 36 284807 chr16 22376248 22376248 T C CDR2 Nonsynonymous SNV N56S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 284808 chr16 24572978 24572978 C T rs768654242 RBBP6 Nonsynonymous SNV T298M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 284809 chr7 117400710 117400710 T A CTTNBP2 Nonsynonymous SNV Y966F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.43 284810 chr2 84846877 84846877 A G DNAH6 Nonsynonymous SNV Q1214R 0 0 0 1 0 0 0.003 0 0 0 0 0 27 284811 chr16 31485193 31485193 C T TGFB1I1 Nonsynonymous SNV P74S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 284812 chr7 138711300 138711300 C A rs750393379 ZC3HAV1L Nonsynonymous SNV C298F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 284813 chr2 86831011 86831011 C T RNF103 Synonymous SNV Q671Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.888 284814 chr16 88788067 88788067 C T rs755976907 PIEZO1 Nonsynonymous SNV R1761Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 284815 chr2 88396213 88396213 G A rs13403507 SMYD1 Synonymous SNV L253L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 1.741 284816 chr16 88793506 88793506 G A rs761581510 PIEZO1 Synonymous SNV T1132T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.648 284817 chr2 88485439 88485439 C T rs76963547 THNSL2 Nonsynonymous SNV P209L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.7 284818 chr7 141738382 141738382 G C rs774252248 MGAM Synonymous SNV G761G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.685 284819 chr7 143208922 143208922 A G OR10AC1 Nonsynonymous SNV L28P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 284820 chr19 57743145 57743145 - GCCCAGCC rs774403828 AURKC Frameshift insertion M35Afs*40 0 0 0.003 0 0 0 0 1 0 0 0 0 284821 chr19 57765877 57765877 A G rs183326274 ZNF805 Nonsynonymous SNV R431G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 284822 chr7 11468705 11468705 G T THSD7A Nonsynonymous SNV L1038I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 284823 chr16 53338334 53338334 A C CHD9 Nonsynonymous SNV E2139A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 284824 chr16 53358764 53358764 C T rs755164829 CHD9 Nonsynonymous SNV T2884I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 284825 chr19 57984929 57984931 TAA - rs751690431 ZNF772 I282del 0 0 0.003 0 0 0 0 1 0 0 0 0 284826 chr2 110927479 110927479 C A rs765568261 NPHP1 Nonsynonymous SNV E80D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.99 284827 chr19 58846338 58846338 A G rs199977485 ZSCAN22 Nonsynonymous SNV Y57C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 284828 chr16 57691293 57691293 G A rs780373424 ADGRG1 Synonymous SNV S397S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 284829 chr16 72993334 72993334 T A rs748409343 ZFHX3 Synonymous SNV R237R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 284830 chr17 17700013 17700013 G A rs768678609 RAI1 Nonsynonymous SNV A1251T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.171 284831 chr19 7589875 7589875 C T rs202247664 MCOLN1 Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.63 284832 chr19 7692130 7692132 TTG - XAB2 K174del 0 0 0.003 0 0 0 0 1 0 0 0 0 284833 chr19 7692133 7692133 A C XAB2 Nonsynonymous SNV L173R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 284834 chr16 700123 700123 C G WDR90 Nonsynonymous SNV L79V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 284835 chr8 17942264 17942264 C A rs200771465 ASAH1 Nonsynonymous SNV R16L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 284836 chr2 163029221 163029221 T C LOC101929532 0 0 0 1 0 0 0.003 0 0 0 0 0 0.016 284837 chr17 27306773 27306775 GAG - SEZ6 L261del 0.001 0 0 0 1 0 0 0 0 0 0 0 284838 chr16 84014456 84014456 C T NECAB2 Synonymous SNV T116T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 284839 chr7 65445272 65445272 G A GUSB Nonsynonymous SNV T112I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.525 284840 chr19 9491643 9491643 C T ZNF177 Synonymous SNV S212S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.642 284841 chr17 33771852 33771852 A G rs755317198 SLFN13 Nonsynonymous SNV V283A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.273 284842 chr17 33880313 33880313 C T SLFN14 Nonsynonymous SNV G447D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 284843 chr8 25325839 25325839 G A rs115462158 CDCA2 Synonymous SNV T200T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.704 284844 chrX 54264851 54264851 C T rs368509222 WNK3 Nonsynonymous SNV R1266Q 0.002 0 0 0 2 0 0 0 1 0 0 0 10.27 284845 chr8 28314361 28314361 A C rs768470244 FBXO16 Synonymous SNV S131S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.417 284846 chr16 88643712 88643712 G A ZC3H18 Nonsynonymous SNV E61K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 284847 chr17 36486316 36486316 C T GPR179 Nonsynonymous SNV E1046K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 284848 chrX 83129342 83129342 T A rs746561026 CYLC1 Nonsynonymous SNV D542E 0.003 0 0 0 4 0 0 0 2 0 0 0 23.2 284849 chr1 1114699 1114699 G A rs113596156 TTLL10 Nonsynonymous SNV R35Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 2.833 284850 chr1 1120495 1120495 T C rs77026477 TTLL10 Synonymous SNV R396R 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.861 284851 chr16 89816194 89816194 G A rs1800346 FANCA Synonymous SNV S1061S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.611 284852 chr1 112524890 112524890 C T rs755206508 KCND3 Synonymous SNV S153S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 12.93 284853 chr7 93098070 93098070 T C rs142016257 CALCR Nonsynonymous SNV I160V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.403 284854 chr16 90075318 90075318 C T rs200870008 DBNDD1 Nonsynonymous SNV V65I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 284855 chr7 95761142 95761142 G C rs186863471 SLC25A13 Nonsynonymous SNV P503A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 284856 chr7 99757738 99757738 C T rs199565529 GAL3ST4 Nonsynonymous SNV R425H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 284857 chr1 1164073 1164073 G A rs140789920 SDF4 Nonsynonymous SNV A34V 0 0 0.003 2 0 0 0.005 1 0 0 0 0 0.003 284858 chr7 99957121 99957121 C G rs199672936 PILRB Nonsynonymous SNV L206V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.772 284859 chr7 100285441 100285441 C G rs145746727 GIGYF1 Synonymous SNV L77L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 284860 chrX 140995589 140995589 G T rs763086891 MAGEC1 Nonsynonymous SNV S800I 0.003 0 0 0 4 0 0 0 2 0 0 0 14.51 284861 chr1 11845239 11845239 G A rs779036499 C1orf167 Nonsynonymous SNV G1154S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 284862 chr8 86027454 86027454 G T rs765736049 LRRCC1 Nonsynonymous SNV G129C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 284863 chr8 95423492 95423492 G T rs773897375 RAD54B Nonsynonymous SNV S119Y 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 284864 chr17 18137097 18137097 C T rs149627877 LLGL1 Nonsynonymous SNV P133L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.246 284865 chr17 18219210 18219210 C A rs147939354 SMCR8 Nonsynonymous SNV P36H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 284866 chr1 147380521 147380521 C T rs145974798 GJA8 Synonymous SNV L147L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.882 284867 chr2 209007419 209007419 A G rs371337231 CRYGB Synonymous SNV D157D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.68 284868 chr17 43912174 43912174 G A rs116891369 LINC02210-CRHR1 Nonsynonymous SNV G285R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.83 284869 chr8 124382182 124382182 A G rs139406007 ATAD2 Synonymous SNV D270D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.367 284870 chr17 3379568 3379568 G A rs544167597 ASPA Nonsynonymous SNV A39T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 11.87 284871 chr7 101267498 101267498 T C rs781221528 MYL10 Nonsynonymous SNV N42S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 284872 chr1 155142020 155142020 C A rs200517433 KRTCAP2 Nonsynonymous SNV V129F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 284873 chr17 74085326 74085326 C G rs150560245 EXOC7 Nonsynonymous SNV S285T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 284874 chr17 74392852 74392852 T A rs778534429 UBE2O Synonymous SNV V722V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.881 284875 chr8 144688309 144688309 C T rs144848854 PYCR3 Nonsynonymous SNV E169K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 29.3 284876 chr17 56599001 56599001 C T rs559285124 SEPTIN4 Nonsynonymous SNV E209K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 284877 chr17 38285738 38285738 C G rs370532515 MSL1 Synonymous SNV P411P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.79 284878 chr17 39092548 39092548 C T KRT23 Nonsynonymous SNV R103H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 284879 chr17 62026809 62026809 T C SCN4A Nonsynonymous SNV E978G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 284880 chr17 39340695 39340695 G A rs369504699 KRTAP4-1 Nonsynonymous SNV R119C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 284881 chr1 166838744 166838744 T C TADA1 Nonsynonymous SNV H57R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 284882 chr7 149476149 149476149 A G rs200843230 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 4.789 284883 chr11 46397157 46397157 G A rs3794430 DGKZ Nonsynonymous SNV R606Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 284884 chr7 149499254 149499254 G A rs59522380 SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 3.486 284885 chr17 39657599 39657599 C A KRT13 Nonsynonymous SNV R429L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 284886 chr9 5920441 5920441 G A rs371721207 KIAA2026 Nonsynonymous SNV T1852M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.06 284887 chr1 173567138 173567138 A T SLC9C2 Nonsynonymous SNV S88T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 284888 chr9 15479662 15479662 C A PSIP1 Nonsynonymous SNV E160D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 284889 chr17 4692377 4692377 - GCT rs769111247 GLTPD2 L28_Y29insL 0.001 0 0 1 1 0 0.003 0 0 0 0 0 284890 chr9 15479670 15479670 C G PSIP1 Nonsynonymous SNV E158Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 284891 chr9 15744327 15744327 A G rs557477299 CCDC171 Synonymous SNV S710S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.232 284892 chr7 154752785 154752785 G T PAXIP1 Nonsynonymous SNV P751Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 284893 chr7 154862753 154862753 C A rs138675565 HTR5A Synonymous SNV G48G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 284894 chr7 157929368 157929368 G A rs145973702 PTPRN2 Synonymous SNV D346D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.792 284895 chr17 43923979 43923979 - G SPPL2C Frameshift insertion D571Gfs*12 0.002 0 0 0 2 0 0 0 1 0 0 0 284896 chr3 11600293 11600293 T C VGLL4 Nonsynonymous SNV T124A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.084 284897 chr8 195607 195607 C A rs140931172 ZNF596 Nonsynonymous SNV H254N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 284898 chr8 3256975 3256975 A G rs199708460 CSMD1 Synonymous SNV S781S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.78 284899 chr1 192780675 192780675 C T rs200505450 RGS2 Synonymous SNV Y195Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.75 284900 chr17 49062315 49062315 G A rs775880921 SPAG9 Synonymous SNV D862D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 284901 chr17 58503521 58503521 G A rs867624782 C17orf64 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 284902 chr9 95840262 95840262 C T rs980367427 SUSD3 Nonsynonymous SNV R75W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 284903 chr9 101498900 101498900 G A rs767538139 ANKS6 Synonymous SNV R839R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.61 284904 chr1 207648340 207648340 G A rs775501900 CR2 Nonsynonymous SNV S773N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 284905 chr1 208227773 208227773 G T rs140488835 PLXNA2 Nonsynonymous SNV T950N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.69 284906 chr9 107576475 107576475 G A rs759804103 ABCA1 Synonymous SNV F1275F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.94 284907 chr9 107591316 107591316 G A rs201599169 ABCA1 Nonsynonymous SNV R666W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 284908 chr8 29990366 29990366 G C rs139513140 MBOAT4 Nonsynonymous SNV S134C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 284909 chr9 108397456 108397456 A G rs141918432 FKTN Nonsynonymous SNV T433A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.54 284910 chr8 33367411 33367411 G A rs1038077253 TTI2 Synonymous SNV F229F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.12 284911 chr9 112898487 112898487 T C rs141992704 PALM2AKAP2 Synonymous SNV A79A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.139 284912 chr9 112918755 112918755 G A rs72757010 PALM2-AKAP2 Nonsynonymous SNV R909H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 284913 chr17 80196672 80196674 CTT - rs749043257 SLC16A3 F408del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 284914 chr8 37914774 37914774 G A rs148075027 EIF4EBP1 Synonymous SNV A107A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.127 284915 chr1 216348661 216348661 G A rs148000219 USH2A Synonymous SNV I1520I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.31 284916 chr9 114176237 114176237 C T rs200061529 ECPAS Nonsynonymous SNV A673T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 284917 chr9 114176893 114176893 C T rs199825081 ECPAS Synonymous SNV A601A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.85 284918 chr1 220151904 220151904 T C rs753065099 EPRS Nonsynonymous SNV N1356S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 284919 chr8 51449352 51449352 G A rs147200097 SNTG1 Nonsynonymous SNV G222S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 284920 chr1 220208320 220208320 C T rs748421116 EPRS Nonsynonymous SNV R56H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 284921 chr9 117846555 117846555 G A rs146213273 TNC Synonymous SNV Y688Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.273 284922 chr1 225459766 225459766 T C rs560792252 DNAH14 Synonymous SNV D2610D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.122 284923 chr18 12985245 12985245 C T rs762118979 SEH1L Synonymous SNV H359H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.44 284924 chr9 124081069 124081069 C T rs757987371 GSN Nonsynonymous SNV R419W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 284925 chr8 82196144 82196144 C T rs150855563 FABP5 Nonsynonymous SNV H97Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 23.7 284926 chr8 87588154 87588154 C A rs78239264 CNGB3 Nonsynonymous SNV V770F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.104 284927 chr8 99152372 99152372 G A rs573370696 POP1 Nonsynonymous SNV V477I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.268 284928 chr18 32826161 32826163 CAG - ZNF397 Q498del 0.001 0 0 0 1 0 0 0 0 0 0 0 284929 chr3 89176376 89176376 A G EPHA3 Nonsynonymous SNV K36E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 284930 chr9 131198082 131198082 C T CERCAM Synonymous SNV L484L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.996 284931 chr8 118173983 118173984 TG - rs749761491 SLC30A8 V194Gfs*40 0 0.003 0 0 0 1 0 0 0 0 0 0 284932 chr1 235667494 235667494 C G B3GALNT2 Nonsynonymous SNV W20S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 284933 chr11 6265538 6265538 G A rs373581473 CNGA4 Nonsynonymous SNV E543K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 284934 chr9 134381507 134381507 C T rs200465419 POMT1 Synonymous SNV D43D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.95 284935 chr1 240256952 240256952 G T FMN2 Nonsynonymous SNV V515L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.462 284936 chr8 133142005 133142005 C A rs977989588 KCNQ3 Nonsynonymous SNV S588I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.27 284937 chr8 133645203 133645203 C G rs200321595 LRRC6 Nonsynonymous SNV D64H 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 31 284938 chr9 138683992 138683992 C T rs758617654 KCNT1 Synonymous SNV D1207D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.908 284939 chr8 144126221 144126221 G A rs778142203 C8orf31 0 0.003 0 0 0 1 0 0 0 0 0 0 32 284940 chr11 6554951 6554951 G A rs558110476 DNHD1 Nonsynonymous SNV R849Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 284941 chr3 126201325 126201325 C G rs759415563 UROC1 Nonsynonymous SNV A632P 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 284942 chr11 6638255 6638255 G A rs773546205 TPP1 Nonsynonymous SNV S213L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.23 284943 chr1 27105838 27105838 G A rs375250508 ARID1A Nonsynonymous SNV V1817I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.07 284944 chr8 145691826 145691826 C T rs142310829 KIFC2 Synonymous SNV L8L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.648 284945 chr10 6483986 6483986 G C PRKCQ Nonsynonymous SNV L444V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.809 284946 chr9 730117 730117 C T rs535343937 KANK1 Nonsynonymous SNV T764I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.566 284947 chr9 2039819 2039833 CAGCAGCCGCAGCAG - SMARCA2 Q238_Q242del 0 0.003 0 0 0 1 0 0 0 0 0 0 284948 chr3 150403576 150403576 T C rs760333454 ERICH6 Nonsynonymous SNV I100V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.6 284949 chr1 39340002 39340002 A T rs66539868 GJA9-MYCBP 0 0 0.007 0 0 0 0 2 0 0 1 0 0.16 284950 chr11 75133677 75133677 G A rs536280809 KLHL35 Nonsynonymous SNV R567C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 284951 chr9 19305475 19305475 C A rs770818546 DENND4C Nonsynonymous SNV D479E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.22 284952 chr9 35610738 35610738 T C CD72 Synonymous SNV Q321Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 284953 chr1 60139794 60139794 G A rs145616341 FGGY Nonsynonymous SNV A202T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.99 284954 chr9 79853080 79853080 T C rs149037185 VPS13A Synonymous SNV A586A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 3.926 284955 chr10 50966616 50966616 G A rs200629482 OGDHL Nonsynonymous SNV P8L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.5 284956 chr11 95825333 95825338 TGCTGT - rs749502756 MAML2 Q620_Q621del 0.002 0 0 2 2 0 0.005 0 0 0 0 0 284957 chr3 193856015 193856015 G A HES1 Nonsynonymous SNV R279Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 284958 chr1 63282450 63282450 A G rs562199990 ATG4C Nonsynonymous SNV Q122R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 284959 chr10 60556116 60556116 G C rs769572497 BICC1 Nonsynonymous SNV S399T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 284960 chr1 63999234 63999234 G C rs139429930 EFCAB7 Nonsynonymous SNV G199A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 284961 chr9 88937804 88937804 A G rs140976292 TUT7 Nonsynonymous SNV I831T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 284962 chr1 6680322 6680322 G A rs1001489005 PHF13 Nonsynonymous SNV V201I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 284963 chr12 103352174 103352174 - GCAGCAGCAGCAGCA ASCL1 Q62_A63insQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 284964 chr10 70332196 70332196 C T rs759674654 TET1 Nonsynonymous SNV A34V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.54 284965 chr19 19162904 19162904 C T rs776886894 ARMC6 Synonymous SNV F226F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 284966 chr1 68659828 68659828 G A rs752586904 WLS Synonymous SNV F61F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 284967 chr19 1108666 1108666 C T rs373031411 SBNO2 Synonymous SNV L1161L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.558 284968 chr3 197652966 197652966 C A rs140573176 IQCG Stop gain G219X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 284969 chr9 103046873 103046873 A G rs150001738 INVS Nonsynonymous SNV R360G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.3 284970 chr9 104335549 104335549 C G rs147490517 GRIN3A Nonsynonymous SNV Q1085H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 284971 chr10 73121938 73121938 A G rs144665176 SLC29A3 Nonsynonymous SNV N256S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.013 284972 chr10 73462409 73462409 C T CDH23 Synonymous SNV A897A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 18.79 284973 chr1 86488239 86488239 G A rs201569788 COL24A1 Synonymous SNV P28P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 284974 chr10 75139654 75139654 C T ANXA7 Nonsynonymous SNV S343N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.23 284975 chr19 31767559 31767559 T C rs749847932 TSHZ3 Nonsynonymous SNV N1047S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 284976 chr4 3076622 3076630 CAGCAGCAG - HTT Q36_Q38del 0 0 0 1 0 0 0.003 0 0 0 0 0 284977 chr9 112172643 112172643 T G rs780874349 PTPN3 Nonsynonymous SNV S124R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.29 284978 chr19 1056169 1056169 G A rs138567176 ABCA7 Nonsynonymous SNV G1448D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.483 284979 chr19 10662588 10662588 G A rs760463896 ATG4D Nonsynonymous SNV E265K 0.005 0 0 0 6 0 0 0 1 0 0 0 23.9 284980 chr19 10668485 10668485 G A rs770604404 KRI1 Synonymous SNV F482F 0.005 0 0.003 0 6 0 0 1 1 0 0 0 14.91 284981 chr1 89844088 89844088 C T rs141436979 GBP6 Nonsynonymous SNV R51W 0 0 0.003 0 0 0 0 1 0 0 0 0 25 284982 chr1 914707 914707 - T PERM1 Frameshift insertion T568Nfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 284983 chr1 94057870 94057870 G A BCAR3 Synonymous SNV S55S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 284984 chr9 117838355 117838355 T C TNC Nonsynonymous SNV K969R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 284985 chr9 125047510 125047510 C G rs753685882 MRRF Nonsynonymous SNV Q83E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 284986 chr10 102733321 102733321 C T rs149776999 SEMA4G Synonymous SNV S97S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 284987 chr12 132625438 132625438 C T rs199645774 DDX51 Nonsynonymous SNV G460S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 5.167 284988 chr20 23066103 23066103 T C rs200857492 CD93 Nonsynonymous SNV K243E 0 0 0.007 0 0 0 0 2 0 0 0 0 18.28 284989 chr10 105813701 105813701 G T rs200866254 COL17A1 Nonsynonymous SNV P604Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 284990 chr9 132400728 132400728 C T rs143294909 ASB6 Nonsynonymous SNV V174I 0 0.003 0 0 0 1 0 0 0 0 0 0 25 284991 chr20 31626761 31626761 T C rs751844759 BPIFB6 Nonsynonymous SNV I298T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 284992 chr20 31989283 31989283 G C CDK5RAP1 Nonsynonymous SNV P28A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.279 284993 chr10 123842899 123842899 C T rs143121367 TACC2 Nonsynonymous SNV A295V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.561 284994 chr12 32772659 32772659 C A rs138160928 FGD4 Nonsynonymous SNV P272T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.3 284995 chr10 127424358 127424358 A G rs749091895 EDRF1 Nonsynonymous SNV N514S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.27 284996 chr10 128192992 128192992 C G rs146720471 C10orf90 Nonsynonymous SNV Q259H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 284997 chr12 48371892 48371892 G A rs373354737 COL2A1 Synonymous SNV P935P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 284998 chr19 33696433 33696433 G T LRP3 Nonsynonymous SNV A253S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 284999 chr20 56285359 56285359 C G rs925847452 NKILA 0 0 0.003 0 0 0 0 1 0 0 0 0 6.804 285000 chr20 59139638 59139638 T A MIR548AG2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.295 285001 chr10 3199723 3199723 C T PITRM1 Synonymous SNV E385E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.85 285002 chr11 724805 724805 G C rs143959905 EPS8L2 Synonymous SNV S512S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.562 285003 chr19 41008376 41008376 G C rs771969260 SPTBN4 Nonsynonymous SNV V389L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 285004 chr20 62680239 62680239 G A SOX18 Synonymous SNV H145H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.274 285005 chr19 3821407 3821407 C T rs201137604 ZFR2 Nonsynonymous SNV R521H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 285006 chr19 38573321 38573321 - TCGGCCGCTTCCGCCGCC rs767708244 SIPA1L3 A380_M381insASAASA 0.001 0 0 0 1 0 0 0 0 0 0 0 285007 chr10 21962453 21962453 G C rs150803413 MLLT10 Nonsynonymous SNV G409A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.112 285008 chr19 39804662 39804662 G A rs770486254 LRFN1 Nonsynonymous SNV L439F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 285009 chr11 1093286 1093286 C G rs201333212 MUC2 Nonsynonymous SNV T1702S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.011 285010 chr19 45029199 45029199 C T rs372782771 CEACAM20 Nonsynonymous SNV S44N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.179 285011 chr11 1774797 1774797 C T rs374531851 CTSD Nonsynonymous SNV R392H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 285012 chr19 45867799 45867799 G A rs1799792 ERCC2 Nonsynonymous SNV H177Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.02 285013 chr11 2632626 2632626 G A rs867634781 KCNQ1OT1 0 0.003 0 0 0 1 0 0 0 0 0 0 6.706 285014 chr19 46388823 46388823 C G rs767040532 IRF2BP1 Synonymous SNV P70P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 285015 chr19 46663725 46663725 G A rs770049879 IGFL2 Nonsynonymous SNV A25T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 285016 chr19 53432482 53432482 C T rs202215127 ZNF816-ZNF321P Nonsynonymous SNV E126K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 285017 chr19 53473215 53473215 A G rs913348738 ZNF702P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 285018 chr21 47969827 47969827 G A rs201345375 DIP2A Nonsynonymous SNV R889Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.633 285019 chr19 53855086 53855086 T C rs58123073 ZNF845 Synonymous SNV N386N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.874 285020 chr22 18022046 18022046 T C rs41277560 CECR2 Synonymous SNV H575H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 285021 chr22 18609703 18609703 C T rs140202346 TUBA8 Nonsynonymous SNV R254W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 285022 chr22 19005569 19005569 T C rs529820587 DGCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 0.236 285023 chr5 1878720 1878720 A G rs758738629 IRX4 Nonsynonymous SNV L308P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.77 285024 chr5 14508394 14508394 G A rs774938828 TRIO Nonsynonymous SNV G3053S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 285025 chr22 24906696 24906719 TGCCCTTTCTCCTATTTATAGCTA - UPB1 T122del 0 0 0.003 0 0 0 0 1 0 0 0 0 285026 chr22 27019252 27019252 G A rs765421650 CRYBA4 Nonsynonymous SNV E32K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 285027 chr19 5641790 5641790 G A rs773063351 SAFB Nonsynonymous SNV D127N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 285028 chr22 30776311 30776311 C T rs145390086 RNF215 Nonsynonymous SNV R275Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 285029 chr19 5679654 5679654 G C MICOS13 Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.921 285030 chr11 6640023 6640023 G A rs143730817 TPP1 Synonymous SNV P71P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.18 285031 chr22 31013402 31013402 G A rs775736158 TCN2 Synonymous SNV P342P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.929 285032 chr22 31522384 31522384 G A rs373386113 INPP5J Nonsynonymous SNV V64M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 285033 chr22 32044232 32044232 C T rs754612768 PISD Nonsynonymous SNV R59Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 285034 chr19 58187609 58187609 T C rs772516844 ZSCAN4 Synonymous SNV A32A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 285035 chr19 50210832 50210832 C T rs144722270 CPT1C Synonymous SNV S467S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.5 285036 chr5 64925910 64925910 A G SHLD3 Nonsynonymous SNV R166G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 285037 chr10 101474361 101474361 G A rs764764067 COX15 Stop gain R227X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 285038 chr19 59063754 59063754 G A rs376979258 CHMP2A Nonsynonymous SNV R74C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 285039 chr19 618527 618527 T A rs776745583 POLRMT Nonsynonymous SNV D1128V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 285040 chr1 100387178 100387178 A G rs995580660 AGL Nonsynonymous SNV T1524A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 285041 chr19 7267418 7267418 G C INSR Nonsynonymous SNV P197R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 285042 chr19 7975675 7975675 - GATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAG MAP2K7 A225_I226insVSDQAGLALGRMTVA 0.001 0 0 0 1 0 0 0 0 0 0 0 285043 chr11 18596947 18596947 C T UEVLD Nonsynonymous SNV S47N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 285044 chr5 79473147 79473147 G A rs776592981 SERINC5 Synonymous SNV T149T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.36 285045 chr13 49760135 49760135 A G rs140915215 FNDC3A Synonymous SNV P495P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.61 285046 chr22 46932140 46932140 C T rs150808525 CELSR1 Nonsynonymous SNV V310I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 285047 chr22 47103848 47103848 C A rs781491903 CERK Nonsynonymous SNV V203L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 285048 chr22 47106983 47106983 C T rs779951438 CERK Nonsynonymous SNV G190D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 285049 chr19 8436182 8436182 G T rs774924877 ANGPTL4 Nonsynonymous SNV R234L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 285050 chr19 56012441 56012441 C A rs186168704 SSC5D Nonsynonymous SNV D886E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 285051 chr5 89923370 89923370 G C rs767567119 ADGRV1 Nonsynonymous SNV E339Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23.6 285052 chr19 56297126 56297126 T C rs758084844 NLRP11 Synonymous SNV R890R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 285053 chr19 53518536 53518536 T A ERVV-1 Nonsynonymous SNV V398D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 285054 chr1 117699514 117699514 C T rs138215115 VTCN1 Nonsynonymous SNV A43T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.853 285055 chr10 127429050 127429050 G A rs201017930 EDRF1 Nonsynonymous SNV G633D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.16 285056 chr2 108604657 108604657 C T rs143876748 SLC5A7 Nonsynonymous SNV L16F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 23.3 285057 chr10 129905704 129905704 A T rs776738876 MKI67 Nonsynonymous SNV L1107Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 285058 chr11 46569838 46569838 C G rs776334268 AMBRA1 Nonsynonymous SNV E31D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 285059 chr11 46625174 46625174 T G HARBI1 Nonsynonymous SNV E319A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 285060 chr2 111899914 111899914 G A rs994303965 BCL2L11 Nonsynonymous SNV R80K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.086 285061 chr2 114697580 114697580 C T rs756712518 ACTR3 Synonymous SNV I144I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 285062 chr10 134721972 134721972 G A rs776021325 CFAP46 Nonsynonymous SNV P975L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 285063 chr10 134732863 134732863 A G rs146983053 CFAP46 Nonsynonymous SNV L605P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 285064 chr19 55693505 55693505 C G PTPRH Nonsynonymous SNV R848P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 285065 chr10 135106697 135106697 G A rs376929690 TUBGCP2 Synonymous SNV H160H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.344 285066 chr14 21162156 21162156 C T rs565444731 ANG Nonsynonymous SNV R145C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 285067 chr11 607301 607301 C G PHRF1 Nonsynonymous SNV N615K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 285068 chr11 615276 615276 G A IRF7 Nonsynonymous SNV R15W 0 0.003 0 0 0 1 0 0 0 0 0 0 17.33 285069 chr19 5692087 5692087 C T rs142068825 LONP1 Nonsynonymous SNV A750T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 285070 chr11 55371602 55371602 G A rs185762050 OR4C11 Nonsynonymous SNV A83V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.912 285071 chr19 57641308 57641308 G T USP29 Nonsynonymous SNV C422F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 285072 chr1 155264152 155264152 G A rs1040834188 PKLR Synonymous SNV S330S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 285073 chr2 165551093 165551093 C T COBLL1 Nonsynonymous SNV D937N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.725 285074 chr2 166756285 166756285 T G TTC21B Nonsynonymous SNV T955P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 285075 chr2 169764368 169764368 C T rs146779637 G6PC2 Stop gain R283X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 35 285076 chr2 171569958 171569958 G A rs539554038 LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 9.845 285077 chr1 1273790 1273790 T C rs140107023 DVL1 Nonsynonymous SNV T456A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.173 285078 chr1 12418562 12418562 G C VPS13D Nonsynonymous SNV G3324A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 285079 chr11 1606401 1606401 C T rs144700999 KRTAP5-1 Nonsynonymous SNV G27S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.006 285080 chr11 58919831 58919831 A T rs140306279 FAM111A Nonsynonymous SNV R230S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 285081 chr5 172581348 172581348 G A rs147710868 BNIP1 Synonymous SNV E67E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.6 285082 chr19 8399474 8399474 C T rs759724793 KANK3 Nonsynonymous SNV A413T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 285083 chr2 201756971 201756971 G A rs767639509 NIF3L1 Nonsynonymous SNV R102H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 285084 chr11 4870095 4870095 A G rs753887408 OR51S1 Nonsynonymous SNV F115S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 285085 chr11 62298559 62298559 A C rs775388306 AHNAK Nonsynonymous SNV I1110M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.913 285086 chr11 62766512 62766512 G A rs768414272 SLC22A8 Synonymous SNV L91L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.902 285087 chr11 63257735 63257735 C T rs747573573 PLAAT5 Synonymous SNV Q83Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.246 285088 chr11 64559852 64559852 G A rs142422551 MAP4K2 Synonymous SNV C590C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 11.87 285089 chr14 77762578 77762578 G A rs141339355 POMT2 Nonsynonymous SNV R349W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 285090 chr11 65367222 65367222 T G rs758121140 MAP3K11 Nonsynonymous SNV S617R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.595 285091 chr14 90754577 90754577 C A rs553168136 NRDE2 Nonsynonymous SNV V1048L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 285092 chr1 13802535 13802535 C T LRRC38 Nonsynonymous SNV E222K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 285093 chr11 67396406 67396406 C T rs772786742 NUDT8 Nonsynonymous SNV R104Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.32 285094 chr11 68575021 68575021 G A rs80356775 CPT1A Nonsynonymous SNV R123C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 285095 chr2 227660399 227660399 A G rs140117962 IRS1 Nonsynonymous SNV I1019T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.715 285096 chr2 227660689 227660689 C T rs2229613 IRS1 Synonymous SNV R922R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.87 285097 chr6 26271205 26271205 C T rs771252482 H3C8 Synonymous SNV A136A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 285098 chr1 10527387 10527387 C T rs759848494 DFFA Nonsynonymous SNV G101R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 285099 chr1 149858059 149858059 C T rs369469320 H2BC21 Synonymous SNV K44K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 285100 chr2 227907889 227907889 C A COL4A4 Nonsynonymous SNV A1101S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 285101 chr11 72408506 72408506 G A rs752155584 ARAP1 Nonsynonymous SNV R633W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 285102 chr1 110466191 110466191 C T rs768261769 CSF1 Synonymous SNV P316P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 285103 chr11 76795962 76795962 C G rs34801837 CAPN5 Nonsynonymous SNV D10E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.96 285104 chr11 76814268 76814268 G A rs112948638 OMP Nonsynonymous SNV R128H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 285105 chr11 78279744 78279744 T C rs60510975 NARS2 Synonymous SNV P102P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.18 285106 chr11 78369281 78369281 C T rs148029717 TENM4 Nonsynonymous SNV R2711Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.1 285107 chr1 1140792 1140792 G A rs150144114 TNFRSF18 Nonsynonymous SNV R90W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 285108 chr6 35960441 35960441 C T SLC26A8 Nonsynonymous SNV G213D 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 285109 chr2 239258034 239258034 C T rs201854804 TRAF3IP1 Nonsynonymous SNV A413V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.421 285110 chr6 37138616 37138616 C G PIM1 Synonymous SNV G141G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 285111 chr6 37138634 37138634 C T PIM1 Synonymous SNV I147I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.98 285112 chr6 39267315 39267315 C G KCNK17 Nonsynonymous SNV R296P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.733 285113 chr2 242157709 242157709 C T ANO7 Nonsynonymous SNV T745I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.15 285114 chr2 241859433 241859433 G A rs544421320 CROCC2 Nonsynonymous SNV R88Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.896 285115 chr1 182369105 182369105 C T rs144341786 TEDDM1 Nonsynonymous SNV M172I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.731 285116 chr1 182369317 182369317 C A rs766377134 TEDDM1 Nonsynonymous SNV G102C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 285117 chr1 158064669 158064669 C A rs201145714 KIRREL1 Nonsynonymous SNV T578K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 285118 chr2 24475269 24475269 A G rs144152229 ITSN2 Nonsynonymous SNV I982T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 285119 chr2 25038390 25038390 G A rs145335606 CENPO Nonsynonymous SNV R114Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 285120 chr1 120468392 120468392 C T NOTCH2 Synonymous SNV V1349V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.014 285121 chr1 159163719 159163719 G T rs374043389 CADM3 Nonsynonymous SNV V194L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.72 285122 chr11 114117933 114117933 C T rs776889462 ZBTB16 Synonymous SNV Y517Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 285123 chr1 149916815 149916815 A G OTUD7B Synonymous SNV D491D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.189 285124 chr2 3261152 3261152 A G rs142389201 EIPR1 Nonsynonymous SNV S112P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 285125 chr11 36669639 36669645 CCAGCCT - rs750937969 C11orf74 Q71Lfs*5 0.001 0.003 0 0 1 1 0 0 0 0 0 0 285126 chr11 36669648 36669648 - TTTC rs760977633 C11orf74 Frameshift insertion T74Ffs*4 0.001 0.003 0 0 1 1 0 0 0 0 0 0 285127 chr1 151491676 151491676 G A rs147457851 CGN Synonymous SNV R227R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.825 285128 chr11 45931646 45931646 G A rs78508822 PEX16 Synonymous SNV H345H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.28 285129 chr11 118133730 118133730 G A rs145670737 MPZL2 Synonymous SNV C47C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.19 285130 chr11 45949058 45949058 C T rs61738733 LARGE2 Synonymous SNV N506N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 285131 chr1 152327785 152327785 C T rs749047338 FLG2 Nonsynonymous SNV G826D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 285132 chr11 47359343 47359343 C T rs371488302 MYBPC3 Nonsynonymous SNV V771M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 285133 chr11 47364189 47364189 C T rs11570082 MYBPC3 Nonsynonymous SNV A522T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 3.519 285134 chr2 43571344 43571344 G A rs182156451 THADA Synonymous SNV S1420S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 285135 chr6 73332136 73332136 T A KCNQ5 Synonymous SNV G73G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.76 285136 chr2 69093363 69093363 C G rs369259498 BMP10 Nonsynonymous SNV E225D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 285137 chr2 71576269 71576269 A T ZNF638 Nonsynonymous SNV Q62L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 285138 chr2 71576270 71576270 G C ZNF638 Nonsynonymous SNV Q62H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 285139 chr1 21143946 21143946 C T rs762591581 EIF4G3 Nonsynonymous SNV R1429Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 285140 chr11 134183290 134183290 G A rs201524135 GLB1L3 Nonsynonymous SNV D501N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.63 285141 chr2 85553949 85553949 A T TGOLN2 Synonymous SNV T302T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 285142 chr2 85625850 85625850 G C rs767288939 CAPG Nonsynonymous SNV A241G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 285143 chr1 181762810 181762810 G A rs558131870 CACNA1E Nonsynonymous SNV V1970I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.6 285144 chr15 77473491 77473491 A G rs373103772 PEAK1 Synonymous SNV L260L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.454 285145 chr1 16054813 16054813 G A rs199779846 PLEKHM2 Nonsynonymous SNV V628M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 285146 chr2 97302694 97302694 A G KANSL3 Nonsynonymous SNV L60P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 285147 chr1 186083154 186083154 T C HMCN1 Synonymous SNV L3725L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 285148 chr3 101535711 101535711 G A NXPE3 Nonsynonymous SNV R332K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 285149 chr11 56230357 56230357 T C rs141480103 OR5M9 Nonsynonymous SNV H174R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 285150 chr11 56344488 56344488 G C rs535448751 OR5M10 Nonsynonymous SNV A237G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 285151 chr3 112356953 112356953 G T rs372832945 CCDC80 Synonymous SNV T600T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.091 285152 chr1 169985635 169985635 A G rs369373148 KIFAP3 Nonsynonymous SNV V340A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 285153 chr11 57077916 57077916 C T rs374427616 TNKS1BP1 Nonsynonymous SNV G757S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.41 285154 chr1 17410253 17410253 G A rs142403504 PADI2 Stop gain Q340X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 38 285155 chr6 152673270 152673270 T G SYNE1 Nonsynonymous SNV K3809N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.37 285156 chr3 122606425 122606425 - A LINC02035 0 0 0.014 0 0 0 0 4 0 0 2 0 285157 chr12 15264304 15264304 T A RERG Nonsynonymous SNV M37L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 285158 chr11 61179349 61179349 C T rs778393623 CPSF7 Nonsynonymous SNV R382Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 285159 chr11 61897920 61897920 G A rs115734811 INCENP Synonymous SNV P307P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.489 285160 chr1 236189259 236189259 G C NID1 Nonsynonymous SNV L641V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 285161 chr3 129225366 129225366 C T rs750405146 IFT122 Nonsynonymous SNV S811F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 285162 chr11 63885582 63885582 C T rs61735088 FLRT1 Nonsynonymous SNV R615C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 26 285163 chr11 64028931 64028931 C T rs373608404 PLCB3 Synonymous SNV I530I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.87 285164 chr6 160480114 160480114 G A rs138238497 IGF2R Synonymous SNV G1025G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.368 285165 chr1 184764167 184764167 C T rs201437304 NIBAN1 Nonsynonymous SNV V911M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 285166 chr12 31613209 31613209 A G rs116132660 DENND5B Synonymous SNV F160F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.794 285167 chr12 31820757 31820757 T G rs140923820 ETFBKMT Nonsynonymous SNV W208G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 285168 chr1 1860282 1860282 C T rs185917678 CFAP74 Nonsynonymous SNV E1110K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 285169 chr1 186107065 186107065 G A rs774423771 HMCN1 Nonsynonymous SNV A4629T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 285170 chr3 142234333 142234333 G A rs201300027 ATR Synonymous SNV T1405T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.4 285171 chr3 14489143 14489143 G A rs753788057 SLC6A6 Nonsynonymous SNV V140I 0 0 0.003 2 0 0 0.005 1 0 0 0 0 4.996 285172 chr12 49423257 49423257 T A rs946513897 KMT2D Nonsynonymous SNV T4668S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.72 285173 chr3 148711966 148711966 C T rs201443260 GYG1 Synonymous SNV Y15Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.83 285174 chr1 227216757 227216757 G A rs371007688 CDC42BPA Nonsynonymous SNV R1282C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 285175 chr1 248224740 248224740 C T rs368310262 OR2L3 Nonsynonymous SNV P253S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 285176 chr3 158384811 158384811 A G rs150659006 LXN Nonsynonymous SNV I187T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 285177 chr12 52775182 52775182 C T rs146876431 KRT84 Nonsynonymous SNV R347H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 285178 chr3 164907082 164907082 T G SLITRK3 Nonsynonymous SNV N513H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 285179 chr11 75112710 75112710 G A RPS3 Nonsynonymous SNV G63D 0 0.003 0 0 0 1 0 0 0 0 0 0 26 285180 chr3 167045833 167045833 G A rs201280383 ZBBX Synonymous SNV F253F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 285181 chr11 76987224 76987224 G A rs140021398 GDPD4 Synonymous SNV Y63Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.702 285182 chr11 77823796 77823796 A C ALG8 Nonsynonymous SNV F266L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.545 285183 chr12 53293656 53293656 T C rs773569111 KRT8 Nonsynonymous SNV K295R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.81 285184 chr3 179424788 179424788 T C rs141550831 USP13 Nonsynonymous SNV W182R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 285185 chr3 184104362 184104362 C T rs746170996 CHRD Nonsynonymous SNV P672L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.645 285186 chr11 92715319 92715319 C T rs767482056 MTNR1B Synonymous SNV L310L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.04 285187 chr3 186570869 186570871 CTA - rs547607723 ADIPOQ L11del 0 0 0.003 0 0 0 0 1 0 0 0 0 285188 chr11 94823195 94823195 A T rs369404308 ENDOD1 Nonsynonymous SNV D35V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.34 285189 chr16 3724392 3724392 T C TRAP1 Nonsynonymous SNV Y278C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 285190 chr11 99715627 99715629 TAT - rs748028938 CNTN5 I35del 0 0.003 0 0 0 1 0 0 0 0 0 0 285191 chr12 57926039 57926039 C T rs780174621 DCTN2 Synonymous SNV E330E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.94 285192 chr1 246921631 246921631 C T rs759869678 SCCPDH Nonsynonymous SNV P223L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 285193 chr1 220955198 220955198 A C rs778354953 MTARC2 Nonsynonymous SNV K321N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 285194 chr12 65448986 65448986 G A rs1026024 WIF1 Synonymous SNV C310C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.32 285195 chr12 70963665 70963665 G A rs139698072 PTPRB Synonymous SNV L834L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.5 285196 chr16 56501179 56501179 C A rs200933704 OGFOD1 Nonsynonymous SNV P253T 0.002 0 0 3 2 0 0.008 0 0 0 0 0 18.04 285197 chr3 36899085 36899085 G C rs759651847 TRANK1 Nonsynonymous SNV L666V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.732 285198 chr3 37061893 37061893 T C rs63751049 MLH1 Nonsynonymous SNV V85A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 24.2 285199 chr3 38051207 38051207 G A rs79082624 PLCD1 Synonymous SNV D482D 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 6.954 285200 chr3 38158553 38158553 A T rs145727886 DLEC1 Nonsynonymous SNV T1426S 0 0 0.01 0 0 0 0 3 0 0 1 0 0.001 285201 chr3 38240239 38240239 A T OXSR1 Nonsynonymous SNV I107F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 285202 chr12 93968866 93968866 A T rs186564713 SOCS2 Nonsynonymous SNV T170S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.502 285203 chr16 67322480 67322485 GGGTAG - rs748384748 PLEKHG4 R1102_G1103del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 285204 chr1 92200437 92200437 T C rs41286789 TGFBR3 Nonsynonymous SNV H155R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.94 285205 chr12 110780119 110780119 C T rs368230581 ATP2A2 Synonymous SNV T728T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 285206 chr16 76461450 76461450 C T CNTNAP4 Synonymous SNV P35P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 285207 chr3 46795062 46795062 C T rs61153905 PRSS43P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.874 285208 chr11 130059685 130059685 C T rs142848651 ST14 Synonymous SNV H164H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 285209 chr3 49348948 49348948 C T USP4 Nonsynonymous SNV G279S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 285210 chr3 49848849 49848849 C T UBA7 Nonsynonymous SNV E327K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 285211 chr3 49940245 49940245 C T MST1R Synonymous SNV P266P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 285212 chr3 50103811 50103811 C T RBM6 Nonsynonymous SNV T418I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 285213 chr12 2224553 2224553 G A rs113869350 CACNA1C Synonymous SNV A71A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.76 285214 chr3 52406983 52406983 C T DNAH1 Nonsynonymous SNV A2300V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 285215 chr12 129190722 129190722 C T rs951840581 TMEM132C Nonsynonymous SNV T1070M 0 0.003 0 0 0 1 0 0 0 0 0 0 24 285216 chr1 899824 899824 C T rs201807567 KLHL17 Synonymous SNV N538N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 285217 chr12 132249098 132249098 T C rs375281679 SFSWAP Synonymous SNV D606D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.175 285218 chr1 2522446 2522446 G A rs751727727 MMEL1 Stop gain R775X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 285219 chr16 89657652 89657652 G C CPNE7 Nonsynonymous SNV S429T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 285220 chr4 100341839 100341839 T C rs59534319 ADH7 Nonsynonymous SNV K238E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.56 285221 chr4 100451039 100451039 C - rs776318381 C4orf17 Stop gain S157* 0 0 0.003 0 0 0 0 1 0 0 0 0 285222 chr4 100451041 100451051 GGGATGACAAG - rs200233951 C4orf17 G158Yfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 285223 chr4 100570795 100570795 C T rs72908744 C4orf54 Nonsynonymous SNV A1671T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 285224 chr12 12419621 12419621 G A LRP6 Synonymous SNV L17L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.66 285225 chr4 100571747 100571747 A G rs72908746 C4orf54 Synonymous SNV S1353S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 285226 chr13 30110110 30110110 G A rs149116208 SLC7A1 Synonymous SNV I72I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.374 285227 chr20 42204863 42204863 G A SGK2 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 285228 chr12 18849144 18849144 T A rs147366281 PLCZ1 Nonsynonymous SNV T218S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.733 285229 chr17 17700142 17700142 C T rs149103415 RAI1 Nonsynonymous SNV P1294S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 285230 chr4 115544475 115544475 A G UGT8 Nonsynonymous SNV I147V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 285231 chr17 19617241 19617241 G A SLC47A2 Nonsynonymous SNV R114W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 285232 chr4 122743651 122743651 G T rs750866939 CCNA2 Nonsynonymous SNV R122S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 285233 chr20 49196331 49196331 C T PTPN1 Nonsynonymous SNV P246L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 285234 chr4 124011818 124011818 G C rs769625579 SPATA5 Synonymous SNV V765V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 285235 chr20 17639850 17639850 C T rs111946504 RRBP1 Nonsynonymous SNV A435T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.176 285236 chr20 31496088 31496088 G A rs753163015 EFCAB8 Nonsynonymous SNV R439H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 285237 chr4 141055711 141055711 C A rs979954476 LOC101927516 0 0 0.003 0 0 0 0 1 0 0 0 0 9.415 285238 chr17 27233454 27233454 C T rs147060998 PHF12 Nonsynonymous SNV R921Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 285239 chr12 50745306 50745306 C A rs141752539 FAM186A Nonsynonymous SNV G1770V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.576 285240 chr17 30190458 30190458 G A rs199655991 UTP6 Stop gain R572X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 285241 chr12 51457921 51457921 T C rs142643949 CSRNP2 Nonsynonymous SNV S414G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.01 285242 chr4 159636830 159636830 C T rs61756415 PPID Nonsynonymous SNV V177I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 12.43 285243 chr4 159782882 159782882 C A rs749682967 FNIP2 Nonsynonymous SNV N119K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 285244 chr4 164394587 164394587 G C rs756221829 TKTL2 Nonsynonymous SNV N100K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 285245 chr1 52803543 52803543 C T rs775082321 ZFYVE9 Nonsynonymous SNV A1198V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 285246 chr1 53222252 53222252 A G ZYG11B Synonymous SNV P51P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.791 285247 chr20 42887233 42887233 C T rs779098946 GDAP1L1 Nonsynonymous SNV T197M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.2 285248 chr4 174449814 174449814 A G rs969947691 HAND2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.693 285249 chr4 175898544 175898544 G A ADAM29 Nonsynonymous SNV S623N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.151 285250 chr20 43739300 43739300 G A rs142074298 WFDC5 Nonsynonymous SNV R68C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 285251 chr7 151093229 151093229 C T rs369760209 WDR86 Nonsynonymous SNV R120Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 285252 chr1 55523077 55523077 G A rs370507566 PCSK9 Nonsynonymous SNV R357H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 285253 chr12 54736006 54736006 A T COPZ1 Nonsynonymous SNV Y12F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.38 285254 chr17 38131236 38131236 C T rs373488710 GSDMA Synonymous SNV G330G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 285255 chr4 185646213 185646213 G T rs745365696 CENPU Nonsynonymous SNV P73H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 285256 chr4 187207381 187207381 C T rs2289252 F11-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 5.318 285257 chr4 187557246 187557246 G A rs780113539 FAT1 Synonymous SNV P1372P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 285258 chr1 6529258 6529258 T C PLEKHG5 Nonsynonymous SNV Q698R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.17 285259 chr4 2233792 2233792 T A rs998969883 HAUS3 Nonsynonymous SNV K558N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.07 285260 chr12 72022783 72022783 C G rs376299458 ZFC3H1 Nonsynonymous SNV K1287N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 285261 chr14 24108480 24108480 C A DHRS2 Nonsynonymous SNV A78D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.79 285262 chr12 83290241 83290241 A G TMTC2 Synonymous SNV L188L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.307 285263 chr12 91572161 91572161 G A rs372859376 DCN Nonsynonymous SNV R57C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 285264 chr20 61919110 61919110 C T rs35608677 ARFGAP1 Nonsynonymous SNV S256L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 285265 chr4 55561907 55561907 C T rs768599276 KIT Synonymous SNV N99N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.809 285266 chr14 45369752 45369752 C - C14orf28 R39Afs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 285267 chr21 27354785 27354785 T C rs748168213 APP Nonsynonymous SNV T235A 0.002 0 0 0 2 0 0 0 0 0 0 0 24 285268 chr21 32537327 32537327 G A rs752729470 TIAM1 Synonymous SNV T956T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 285269 chr14 52782045 52782045 C A PTGER2 Nonsynonymous SNV T260K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 285270 chr12 110399143 110399143 G A rs139764125 GIT2 Synonymous SNV T309T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 285271 chr12 110780053 110780053 T C rs752087467 ATP2A2 Synonymous SNV D706D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.057 285272 chr12 113386675 113386675 C T rs745326386 OAS3 Nonsynonymous SNV R347C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 285273 chr4 774574 774574 A G rs6840352 LOC100129917 0 0 0.017 0 0 0 0 5 0 0 2 0 7.723 285274 chr4 7774637 7774637 C T rs367874419 AFAP1 Synonymous SNV T637T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 285275 chr14 59789836 59789836 G A rs759856885 DAAM1 Nonsynonymous SNV V223M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 285276 chr20 17622509 17622509 T C RRBP1 Nonsynonymous SNV E706G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 285277 chr12 120578726 120578726 G A rs371127784 GCN1 Synonymous SNV S1977S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.92 285278 chr21 41385090 41385090 T C DSCAM Synonymous SNV T1952T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.89 285279 chr14 63174240 63174240 C A rs368953680 KCNH5 Stop gain E985X 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 42 285280 chr4 88535551 88535551 T C rs371472252 DSPP Synonymous SNV D579D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.036 285281 chr14 70039321 70039321 T C CCDC177 Nonsynonymous SNV K340R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 285282 chr4 95377668 95377668 - T rs762571808 PDLIM5 Frameshift insertion A127Cfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 285283 chr14 74876419 74876419 G A rs757419615 SYNDIG1L Nonsynonymous SNV P10L 0 0.003 0 0 0 1 0 0 0 0 0 0 29 285284 chr8 110492244 110492244 A T rs201285415 PKHD1L1 Nonsynonymous SNV D3068V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 285285 chr17 68129056 68129056 T A rs911868400 KCNJ16 Nonsynonymous SNV F311L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.33 285286 chr20 33329872 33329872 C T NCOA6 Synonymous SNV L1396L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.158 285287 chr13 24380111 24380111 C - rs751101220 MIPEP G609Afs*86 0 0.003 0 0 0 1 0 0 0 0 0 0 285288 chr14 89038501 89038501 C T rs376580827 ZC3H14 Synonymous SNV S121S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.21 285289 chr13 25486875 25486875 T C rs41306027 CENPJ Nonsynonymous SNV T97A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.001 285290 chr14 92174488 92174488 G A rs779893104 CATSPERB Stop gain R155X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 285291 chr5 135276540 135276540 T C FBXL21P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.068 285292 chr13 28589809 28589809 G A rs772854825 FLT3 Synonymous SNV P857P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.885 285293 chr22 24891381 24891381 G A rs371262591 UPB1 Nonsynonymous SNV A4T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.201 285294 chr5 138749854 138749854 G A rs766015799 DNAJC18 Synonymous SNV L354L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 285295 chr20 45865073 45865073 G A rs142682694 ZMYND8 Synonymous SNV S799S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 285296 chr13 36202318 36202318 T C rs774762571 NBEA Nonsynonymous SNV V310A 0 0.003 0 0 0 1 0 0 0 0 0 0 28 285297 chr14 95670308 95670308 C A rs376091131 CLMN Nonsynonymous SNV D460Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 285298 chr22 28194894 28194894 - TGCTGT rs776769218 MN1 Q550_R551insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 285299 chr22 29533626 29533626 A C rs761401934 KREMEN1 Nonsynonymous SNV I310L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 285300 chr13 42465558 42465558 G A VWA8 Stop gain R217X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 285301 chr22 31059928 31059928 C T DUSP18 Synonymous SNV S21S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.565 285302 chr20 57564930 57564930 G A NELFCD Synonymous SNV G225G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 285303 chr5 140957110 140957110 T C rs749220748 DIAPH1 Synonymous SNV S395S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.404 285304 chr20 60503387 60503387 C T rs138313998 CDH4 Synonymous SNV D600D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.15 285305 chr15 23892322 23892351 CCATCGGGGTCCCCGGAGGAGGAGGATGCA - rs779748148 MAGEL2 V180_M189del 0 0.003 0 0 0 1 0 0 0 0 0 0 285306 chr5 149501461 149501461 C T rs751904503 PDGFRB Nonsynonymous SNV D712N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 285307 chr15 31776301 31776301 C G rs777418666 OTUD7A Synonymous SNV T659T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.203 285308 chr13 103385961 103385961 C T rs760929364 CCDC168 Nonsynonymous SNV A5696T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 285309 chr22 17584454 17584454 G A rs141467790 IL17RA Nonsynonymous SNV R278H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.408 285310 chr22 41735192 41735192 G A rs142365909 ZC3H7B Synonymous SNV S271S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 285311 chr15 40566447 40566447 C - BUB1B-PAK6, PAK6 P618Hfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 285312 chr22 17600785 17600785 C T rs369425031 TMEM121B Synonymous SNV E411E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.192 285313 chr13 109318366 109318366 A G rs574447181 MYO16 Nonsynonymous SNV Y54C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 285314 chr15 41803401 41803401 C T rs765599057 LTK Nonsynonymous SNV G320R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 285315 chr13 113742041 113742041 G A rs139449890 MCF2L Synonymous SNV T834T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.95 285316 chr13 113803273 113803273 C T rs146421172 F10 Nonsynonymous SNV T300M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.75 285317 chr15 42166099 42166099 C G rs765600350 SPTBN5 Nonsynonymous SNV E1612Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 285318 chr22 20800899 20800899 T G rs770578900 KLHL22 Nonsynonymous SNV E457A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 285319 chr15 42167136 42167136 C T rs375198417 SPTBN5 Nonsynonymous SNV R1469Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.907 285320 chr15 42182387 42182387 A G rs781197492 SPTBN5 Nonsynonymous SNV I134T 0 0.003 0 0 0 1 0 0 0 0 0 0 27 285321 chr22 46761231 46761231 G A CELSR1 Synonymous SNV S2817S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 285322 chr15 42439403 42439403 C T rs373871457 PLA2G4F Synonymous SNV L446L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.469 285323 chr15 43748577 43748577 C T TP53BP1 Synonymous SNV L743L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.669 285324 chr5 176524661 176524661 C T FGFR4 Nonsynonymous SNV S758F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 285325 chr21 36259232 36259232 C A rs561166961 RUNX1 Nonsynonymous SNV G60C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 285326 chr21 40765177 40765177 G T rs138689773 GET1 Nonsynonymous SNV R107L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 285327 chr14 24587994 24587994 C T DCAF11 Nonsynonymous SNV H254Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 285328 chr2 110310707 110310707 C T SEPTIN10 Nonsynonymous SNV R183Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 285329 chr15 65298492 65298492 T G MTFMT Nonsynonymous SNV K284T 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 285330 chr5 37169520 37169520 T C rs761131152 CPLANE1 Synonymous SNV T2202T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.418 285331 chr18 46146071 46146071 G A rs769047846 CTIF Synonymous SNV T45T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.05 285332 chr9 111882122 111882122 C T rs771891401 TMEM245 Synonymous SNV P24P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 285333 chr9 114090577 114090577 A G rs748571714 OR2K2 Nonsynonymous SNV I46T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 285334 chr15 79586429 79586429 G A rs886911869 ANKRD34C Nonsynonymous SNV R268H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.177 285335 chr2 15614424 15614424 G T rs372603397 NBAS Synonymous SNV R456R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 285336 chr5 78596035 78596035 T A rs376309266 JMY Nonsynonymous SNV D529E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 285337 chr15 88472622 88472622 G A rs139392904 NTRK3 Nonsynonymous SNV R547C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 285338 chr22 51009827 51009827 C T rs774951399 CPT1B Nonsynonymous SNV A539T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 285339 chr14 70809397 70809397 C T rs139410596 COX16, SYNJ2BP-COX16 Nonsynonymous SNV R40Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 285340 chr9 130486446 130486446 A T TTC16 Nonsynonymous SNV D294V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 285341 chr5 8461355 8461355 C T rs341898 MIR4458HG 0 0 0.007 0 0 0 0 2 0 0 1 0 1.44 285342 chr14 74757091 74757091 C T rs145155300 ABCD4 Synonymous SNV K147K 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 18.13 285343 chr5 90085621 90085621 A G rs765672841 ADGRV1 Nonsynonymous SNV I4666V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.97 285344 chr5 96239248 96239248 G A ERAP2 Nonsynonymous SNV V621M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 285345 chr22 36113955 36113955 G A rs762588197 APOL5 Nonsynonymous SNV G13S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.6 285346 chr15 100269803 100269803 G A rs770495695 LYSMD4 Nonsynonymous SNV P78L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 285347 chr16 111954 111954 C T rs77201493 RHBDF1 Synonymous SNV P350P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.866 285348 chr14 93460334 93460334 G T rs375334505 ITPK1 Synonymous SNV I85I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 285349 chr16 732251 732251 C T rs373706128 STUB1 Synonymous SNV Y180Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.955 285350 chr6 116381209 116381209 C A rs767853111 FRK Nonsynonymous SNV R89L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.239 285351 chr14 94546084 94546084 T C DDX24 Nonsynonymous SNV K2R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 285352 chr14 94731218 94731218 C G rs373727299 PPP4R4 Nonsynonymous SNV Q630E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.83 285353 chr14 95054137 95054137 A C rs780554840 SERPINA5 Synonymous SNV V146V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 285354 chr2 152420121 152420121 G A rs375357016 NEB Nonsynonymous SNV A4530V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.16 285355 chr6 144743040 144743040 G A rs144223166 UTRN Nonsynonymous SNV M56I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 285356 chr22 46859899 46859899 C T rs768768128 CELSR1 Synonymous SNV T1296T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.27 285357 chr16 3779090 3779090 C T rs774747147 CREBBP Synonymous SNV T1948T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.05 285358 chr22 50721513 50721513 C T rs769779572 PLXNB2 Nonsynonymous SNV V928M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 285359 chr16 4924512 4924512 G A rs778128248 UBN1 Nonsynonymous SNV A701T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.021 285360 chr2 215595159 215595159 T C rs147215925 BARD1 Synonymous SNV R146R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.205 285361 chr16 11643550 11643550 G A rs374918259 LITAF Synonymous SNV D143D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.84 285362 chr15 40659513 40659513 C T rs769895587 DISP2 Synonymous SNV T400T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.572 285363 chr16 17353227 17353227 G C XYLT1 Nonsynonymous SNV H177Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.5 285364 chr19 23927240 23927240 C T rs146668980 ZNF681 Nonsynonymous SNV C371Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 285365 chr2 220362897 220362897 G A rs551161428 SPEGNB Nonsynonymous SNV V235I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.14 285366 chr16 22193565 22193565 G C rs891208868 SDR42E2 Nonsynonymous SNV E485D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 285367 chr15 42145072 42145072 C G SPTBN5 Nonsynonymous SNV E3433Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 285368 chr19 29703927 29703927 C T rs1052330465 UQCRFS1 Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 285369 chr15 42285138 42285138 G A rs200625247 PLA2G4E Nonsynonymous SNV R423C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 285370 chr2 179839828 179839828 T C CCDC141 Nonsynonymous SNV E161G 0.001 0 0 0 1 0 0 0 0 0 0 0 28 285371 chr6 22570554 22570554 C T HDGFL1 Synonymous SNV S250S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 285372 chr16 28506445 28506445 A G rs776129714 APOBR Nonsynonymous SNV Y28C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 285373 chr15 42682288 42682288 G A rs78369269 CAPN3 Synonymous SNV P313P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.44 285374 chr2 121748068 121748068 G A rs148037618 GLI2 Synonymous SNV S1384S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.39 285375 chr16 30709505 30709516 AGTGGTGGTGGT - rs755852258 LOC730183 P39_L42del 0 0.003 0 0 0 1 0 0 0 0 0 0 285376 chr16 30718509 30718509 C T rs200473396 SRCAP Synonymous SNV A104A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.26 285377 chr6 27435642 27435642 G A rs138481774 ZNF184 Nonsynonymous SNV A22V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 285378 chr6 2766251 2766251 G C rs754828394 WRNIP1 Nonsynonymous SNV S132T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 285379 chr15 50555537 50555537 G A rs762681379 HDC Synonymous SNV D33D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 285380 chr6 3019578 3019578 T C rs865832832 HTATSF1P2 0 0 0.003 0 0 0 0 1 0 0 0 0 3.855 285381 chr10 50954901 50954901 C T OGDHL Synonymous SNV G188G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.57 285382 chr16 56918010 56918010 G A rs774100756 SLC12A3 Synonymous SNV G573G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.605 285383 chr15 62210389 62210389 C T rs771908102 VPS13C Nonsynonymous SNV R2526H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 285384 chr10 71168727 71168727 C T rs77038916 TACR2 Nonsynonymous SNV G231E 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 29.9 285385 chr15 64967090 64967090 G A rs151162773 ZNF609 Synonymous SNV A679A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.191 285386 chr19 39915318 39915318 C T rs765489871 PLEKHG2 Nonsynonymous SNV P1123L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 285387 chr15 65555518 65555518 A G rs139672729 PARP16 Synonymous SNV H105H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.47 285388 chr6 41739624 41739624 G A rs557171378 FRS3 Nonsynonymous SNV S165L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 285389 chr15 71535112 71535112 C T rs752619015 THSD4 Nonsynonymous SNV R197C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 285390 chr2 170139390 170139390 A G LRP2 Synonymous SNV N388N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.967 285391 chr15 74625101 74625101 T C CCDC33 Nonsynonymous SNV L211P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 285392 chr16 72130176 72130176 G A rs756518789 DHX38 Synonymous SNV K40K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 285393 chr16 72821613 72821642 CCGCCACCGCCGCCGCCGCCGCCACTGCCA - rs765105433 ZFHX3 S2599_G2608del 0 0.003 0 0 0 1 0 0 0 0 0 0 285394 chr16 72822563 72822563 - TGCTGC rs376311468 ZFHX3 Q2290_P2291insQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 285395 chr6 47253834 47253834 C T TNFRSF21 Synonymous SNV V198V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 285396 chr19 44223736 44223736 T C IRGC Synonymous SNV T342T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 285397 chr15 77907881 77907881 G A rs764093658 LINGO1 Nonsynonymous SNV T123M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 285398 chr15 77908222 77908222 C T rs765138815 LINGO1 Synonymous SNV A9A 0 0.003 0.01 0 0 1 0 3 0 0 0 0 11.74 285399 chr6 53365142 53365142 T C rs146060256 GCLC Nonsynonymous SNV N457S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.518 285400 chr2 179628968 179628968 C T rs759936737 TTN Synonymous SNV P3304P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.15 285401 chr16 85688533 85688533 A G GSE1 Nonsynonymous SNV T141A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.18 285402 chr2 74460562 74460562 G A rs376673803 SLC4A5 Synonymous SNV A854A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 285403 chr2 74781888 74781888 G C rs368294305 DOK1 Nonsynonymous SNV G3R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 285404 chr16 88772656 88772656 G C RNF166 Synonymous SNV G26G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.153 285405 chr19 48640269 48640269 C T rs374979607 LIG1 Nonsynonymous SNV A375T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 285406 chr16 88782217 88782217 G C PIEZO1 Nonsynonymous SNV F2454L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 285407 chr16 88786300 88786300 G C PIEZO1 Nonsynonymous SNV A2078G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 285408 chr2 20194129 20194129 A G MATN3 Nonsynonymous SNV C446R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 285409 chr10 118708461 118708461 A G SHTN1 Synonymous SNV L134L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.487 285410 chr2 202900890 202900890 C A FZD7 Nonsynonymous SNV T507K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 285411 chr2 203686107 203686107 C T ICA1L Synonymous SNV K111K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 285412 chr10 129905666 129905666 T C MKI67 Nonsynonymous SNV T1120A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 285413 chr16 1536030 1536030 C T rs145323009 PTX4 Synonymous SNV P444P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.057 285414 chr7 104742574 104742574 A G rs773019360 KMT2E Nonsynonymous SNV E710G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 285415 chr3 114099192 114099192 G A rs1026601654 ZBTB20 Nonsynonymous SNV P24L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 285416 chr3 11600843 11600843 G A rs377383551 VGLL4 Synonymous SNV A108A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.937 285417 chr7 116655059 116655059 G T ST7 Nonsynonymous SNV D2Y 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 285418 chr3 120128508 120128508 A G rs762224570 FSTL1 Synonymous SNV V111V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 285419 chr7 117267610 117267610 A G rs150326506 CFTR Nonsynonymous SNV D1168G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28 285420 chr16 2514103 2514103 G A rs544744371 TEDC2 Nonsynonymous SNV C343Y 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 285421 chr16 2817216 2817216 C T rs141611303 SRRM2 Synonymous SNV A2229A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 10.42 285422 chr16 2817262 2817262 G A SRRM2 Nonsynonymous SNV A2245T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 285423 chr16 3139284 3139284 C T rs190615917 ZSCAN10 Synonymous SNV Q323Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.024 285424 chr7 127224608 127224608 C A rs772436091 GCC1 Nonsynonymous SNV R210L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 285425 chr3 123987592 123987592 G A rs61738702 KALRN Synonymous SNV T151T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.112 285426 chr3 124732195 124732195 G A rs150232516 HEG1 Nonsynonymous SNV S743F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.6 285427 chr3 124732426 124732426 G A rs113838848 HEG1 Nonsynonymous SNV S666F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.152 285428 chr3 124746241 124746241 C G rs140295311 HEG1 Nonsynonymous SNV G241R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.106 285429 chr17 7133425 7133425 C T rs200283908 DVL2 Nonsynonymous SNV E154K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 285430 chr3 126139024 126139024 C T rs6795815 CFAP100 Nonsynonymous SNV P345L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.636 285431 chr3 126154472 126154472 G A rs145096068 CFAP100 Nonsynonymous SNV A567T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 285432 chr3 126208174 126208174 G A rs150326122 UROC1 Synonymous SNV T551T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.97 285433 chr17 7401483 7401483 G A POLR2A Nonsynonymous SNV R430H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 285434 chr19 55773997 55773997 C T rs147806061 HSPBP1 Synonymous SNV A399A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 285435 chr7 141618861 141618861 C T rs202022775 OR9A4 Synonymous SNV L62L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.855 285436 chr3 133347567 133347567 G A TOPBP1 Nonsynonymous SNV A839V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.7 285437 chr19 56297027 56297027 C G rs775377221 NLRP11 Nonsynonymous SNV M923I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.337 285438 chr16 22358853 22358853 T C CDR2 Synonymous SNV P266P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.135 285439 chr17 10632378 10632378 C T rs369583189 TMEM220 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 285440 chr7 150269614 150269614 A G rs769626156 GIMAP4 Nonsynonymous SNV I166M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.478 285441 chr17 14205082 14205082 G C rs62636623 HS3ST3B1 Nonsynonymous SNV G83R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.004 285442 chr3 147114050 147114050 C A rs199650167 ZIC4 Nonsynonymous SNV A143S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 285443 chr17 17751084 17751084 G C TOM1L2 Nonsynonymous SNV F345L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 285444 chr7 154143385 154143385 C T DPP6 Synonymous SNV I46I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 285445 chr7 154667672 154667672 C T rs546439141 DPP6 Nonsynonymous SNV T540M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 285446 chr16 31286905 31286905 A T rs780203439 ITGAM Nonsynonymous SNV Q298H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.8 285447 chr3 150128404 150128404 G A rs752099979 TSC22D2 Nonsynonymous SNV G423S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 285448 chr17 18226019 18226019 C G SMCR8 Nonsynonymous SNV L817V 0 0.003 0 0 0 1 0 0 0 0 0 0 26 285449 chr7 155595805 155595805 G C rs751239867 SHH Nonsynonymous SNV A393G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.24 285450 chr7 156433027 156433027 G C LINC01006 0 0 0.003 0 0 0 0 1 0 0 0 0 9.95 285451 chr7 156742543 156742543 G A NOM1 Nonsynonymous SNV G38R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.21 285452 chr17 18881271 18881271 C T rs377259741 FAM83G Nonsynonymous SNV V570M 0 0.003 0 0 0 1 0 0 0 0 0 0 5.722 285453 chr7 158719124 158719124 C T WDR60 Synonymous SNV S610S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 285454 chr7 22999894 22999894 A C rs200916070 FAM126A Synonymous SNV G324G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.661 285455 chr7 25175791 25175791 C T rs375798433 C7orf31 Nonsynonymous SNV V525I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 285456 chr16 57295893 57295893 G A rs759789718 PLLP Synonymous SNV F75F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.36 285457 chr7 27209056 27209056 G A rs535788013 HOXA10-AS 0 0 0.007 0 0 0 0 2 0 0 0 0 20.1 285458 chr2 37319388 37319388 A G rs778212418 GPATCH11 Nonsynonymous SNV D70G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 285459 chr16 66947429 66947429 C T rs199547959 CDH16 Nonsynonymous SNV V193M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 285460 chr16 67314891 67314891 C T rs757990422 PLEKHG4 Synonymous SNV Y153Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 285461 chr17 33456640 33456640 A G rs183501037 FNDC8 Nonsynonymous SNV N262S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 285462 chr17 34050697 34050697 C T rs200158433 AP2B1 Synonymous SNV Y931Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 285463 chr16 71668531 71668535 ACCAA - rs746133184 MARVELD3 Stop gain Y344* 0 0.003 0 0 0 1 0 0 0 0 0 0 285464 chr7 5467792 5467792 C T rs534333738 LOC100129484 Nonsynonymous SNV G30R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.4 285465 chr7 5535469 5535469 G A rs372099307 MIR589 0 0 0.007 0 0 0 0 2 0 0 0 0 6.68 285466 chr17 39388955 39388955 A G rs762059802 KRTAP9-3 Nonsynonymous SNV T68A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 285467 chr3 39184791 39184791 G C CSRNP1 Nonsynonymous SNV Q529E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 285468 chr7 86571352 86571352 T G rs977770621 KIAA1324L Synonymous SNV G74G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.759 285469 chr7 87179825 87179825 T C ABCB1 Nonsynonymous SNV R395G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 285470 chr1 110019415 110019415 A T rs79613472 SYPL2 Nonsynonymous SNV Y91F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.597 285471 chr1 110019585 110019585 C T rs75551446 SYPL2 Nonsynonymous SNV R148C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 285472 chr11 17331153 17331153 A G rs201994800 NUCB2 Synonymous SNV Q138Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.576 285473 chr3 44959616 44959616 C G ZDHHC3 Nonsynonymous SNV R254P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 285474 chr3 100542306 100542308 TGT - rs753626741 ABI3BP T799del 0.001 0 0 0 1 0 0 0 0 0 0 0 285475 chr7 97833289 97833289 C T LMTK2 Nonsynonymous SNV P1425L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 285476 chr3 10354402 10354402 A G rs748720652 SEC13 Synonymous SNV P45P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.21 285477 chr3 107885782 107885782 G T rs777555787 IFT57 Synonymous SNV I300I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.01 285478 chr17 47288185 47288185 C T rs567658506 ABI3 Synonymous SNV C33C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.6 285479 chr17 47375873 47375873 C G ZNF652 Nonsynonymous SNV A575P 0 0.003 0 0 0 1 0 0 0 0 0 0 32 285480 chr3 158519976 158519976 T G MFSD1 Nonsynonymous SNV L12R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 285481 chr17 1690882 1690882 G A rs143274453 SMYD4 Synonymous SNV I518I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.061 285482 chr17 1960594 1960594 C T HIC1 Nonsynonymous SNV P223S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.074 285483 chr8 131308164 131308164 T A rs186027524 ASAP1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.014 285484 chr17 62081023 62081023 C T rs200207991 ICAM2 Synonymous SNV P210P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.411 285485 chr3 58486841 58486841 C A KCTD6 Synonymous SNV R66R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 285486 chr17 65907644 65907644 T C rs139231512 BPTF Nonsynonymous SNV I1215T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.002 285487 chr3 124153201 124153201 G A rs1048632016 KALRN Synonymous SNV L957L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.386 285488 chr8 144126087 144126087 C T rs73717943 C8orf31 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 285489 chr17 7485709 7485709 - G rs982956536 LOC100996842 Frameshift insertion T183Hfs*23 0 0.003 0 0 0 1 0 0 0 0 0 0 285490 chr17 7749972 7749972 G T rs148641957 KDM6B Nonsynonymous SNV V209L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.91 285491 chr8 144942559 144942559 C T EPPK1 Synonymous SNV R1621R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 285492 chr17 7980391 7980391 G A rs752176414 ALOX12B Nonsynonymous SNV H398Y 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.7 285493 chr17 73895267 73895267 G A rs767842733 MRPL38 Synonymous SNV S326S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 285494 chr17 73946914 73946914 A G ACOX1 Synonymous SNV N375N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.158 285495 chr4 10542154 10542154 T A rs369795430 CLNK Nonsynonymous SNV Q189L 0.004 0.003 0 0 5 1 0 0 0 0 0 0 4.028 285496 chr8 145746341 145746341 C T rs892786260 LRRC14 Synonymous SNV L321L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.482 285497 chr3 138038319 138038319 - T NME9 0.001 0 0 0 1 0 0 0 0 0 0 0 285498 chr8 1853799 1853799 C T rs766706725 ARHGEF10 Synonymous SNV N590N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 285499 chr17 76563204 76563204 G A rs370895011 DNAH17 Synonymous SNV I443I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.29 285500 chr3 143691621 143691621 C T DIPK2A Synonymous SNV L149L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 285501 chr8 21608273 21608273 G A rs759832571 GFRA2 Synonymous SNV F74F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.336 285502 chr17 19616040 19616040 T A SLC47A2 Synonymous SNV V154V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.468 285503 chr8 26240694 26240694 C A rs762673073 BNIP3L Nonsynonymous SNV N16K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 285504 chr17 26107861 26107861 A T NOS2 Nonsynonymous SNV N312K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.05 285505 chr3 179051255 179051255 A T ZNF639 Nonsynonymous SNV D168V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 285506 chr11 58377803 58377803 A G rs764941641 ZFP91 Nonsynonymous SNV I205V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.16 285507 chr11 59603364 59603364 G A rs2867802 CBLIF Synonymous SNV N330N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.819 285508 chr8 41838378 41838378 G A rs199732997 KAT6A Nonsynonymous SNV T298I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 30 285509 chr18 5415894 5415894 G C EPB41L3 Nonsynonymous SNV L664V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 285510 chr18 6943284 6943284 G A rs138692442 LAMA1 Nonsynonymous SNV R2988C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 33 285511 chr3 184684474 184684474 C T rs527847853 VPS8 Nonsynonymous SNV L1084F 0.001 0 0 0 1 0 0 0 0 0 0 0 28 285512 chr4 162463692 162463692 G A rs149618336 FSTL5 Nonsynonymous SNV T389M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 285513 chr17 33591258 33591258 C T rs770343895 SLFN5 Stop gain Q399X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 285514 chr8 67109054 67109054 C T rs146105362 LINC00967 0 0 0.003 0 0 0 0 1 0 0 0 0 9.639 285515 chr17 35745638 35745638 G A rs754623510 C17orf78 Stop gain W181X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 285516 chr8 73993373 73993373 C T rs754768053 SBSPON Nonsynonymous SNV R97Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 285517 chr8 74204022 74204022 T C RPL7 Synonymous SNV P138P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.928 285518 chr8 75227391 75227391 T C rs765566580 JPH1 Nonsynonymous SNV M282V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 285519 chr8 81892702 81892702 G A rs76638807 PAG1 Nonsynonymous SNV R302W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 285520 chr1 176863937 176863937 G A rs777093050 ASTN1 Nonsynonymous SNV R901W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 285521 chr18 33713247 33713247 A G rs139365470 ELP2 Nonsynonymous SNV N62S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 285522 chr4 187521137 187521137 A G rs778435178 FAT1 Synonymous SNV S4006S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.061 285523 chr18 45567047 45567047 G A rs373973400 ZBTB7C Synonymous SNV D144D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 285524 chr11 71725284 71725284 G C rs147873282 NUMA1 Nonsynonymous SNV Q1089E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 285525 chr9 119382639 119382639 G T ASTN2 Nonsynonymous SNV S104R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 285526 chr18 74091374 74091374 G A rs61733592 ZNF516 Nonsynonymous SNV A899V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.259 285527 chr11 75152721 75152721 C T rs780364323 GDPD5 Nonsynonymous SNV R294H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 285528 chr17 48269167 48269167 G A rs776830248 COL1A1 Synonymous SNV P703P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.24 285529 chr17 48741178 48741178 G T rs151185563 ABCC3 Nonsynonymous SNV V379L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 285530 chr17 56356559 56356559 T C rs918949788 MPO Nonsynonymous SNV N232S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 285531 chr9 130690017 130690017 G C PIP5KL1 Nonsynonymous SNV R157G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 285532 chr3 47451422 47451422 C T rs767963459 PTPN23 Synonymous SNV L586L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.123 285533 chr3 47453372 47453372 G A rs141816989 PTPN23 Nonsynonymous SNV V1204M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 285534 chr9 135275530 135275530 C T rs145243204 TTF1 Nonsynonymous SNV V495M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 285535 chr1 213349781 213349781 A G rs373867090 RPS6KC1 Synonymous SNV L33L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.601 285536 chr3 58517534 58517534 G A rs144327887 ACOX2 Nonsynonymous SNV R197W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 285537 chr3 63981977 63981977 A G rs147259509 ATXN7 Nonsynonymous SNV T682A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 285538 chr9 139620917 139620917 C T rs10870115 SNHG7 0 0 0.007 0 0 0 0 2 0 0 1 0 5.037 285539 chr19 5041190 5041190 C G rs147923352 KDM4B Synonymous SNV R120R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 285540 chr17 73625788 73625788 C T rs771116160 RECQL5 Synonymous SNV S649S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.06 285541 chr3 9406765 9406765 G C THUMPD3 Nonsynonymous SNV E5Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 285542 chr3 98518507 98518507 G T rs771186081 DCBLD2 Synonymous SNV T679T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.628 285543 chr3 99649815 99649815 G A rs202182798 FILIP1L Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.747 285544 chr9 21384878 21384878 G A rs200690399 IFNA2 Nonsynonymous SNV L151F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 285545 chr17 77710978 77710978 G A rs782527487 ENPP7 Nonsynonymous SNV E389K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 285546 chr4 102751139 102751139 T - rs746285258 BANK1 Stop gain L53* 0.001 0 0 0 1 0 0 0 0 0 0 0 285547 chr5 124080379 124080379 T C rs139312462 ZNF608 Nonsynonymous SNV S102G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.13 285548 chr1 228459652 228459652 C G rs750358536 OBSCN Nonsynonymous SNV Q1906E 0.002 0 0 0 2 0 0 0 0 0 0 0 1.713 285549 chr1 228550301 228550303 AGG - OBSCN E6230del 0.002 0 0 0 2 0 0 0 0 0 0 0 285550 chr4 39501834 39501834 G A UGDH Nonsynonymous SNV P405S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 285551 chr5 133643836 133643836 - G CDKL3 Frameshift insertion S158Qfs*6 0.002 0 0 0 2 0 0 0 0 0 0 0 285552 chr17 79899152 79899156 CCTGG - MYADML2 Q155Efs*29 0 0.003 0 0 0 1 0 0 0 0 0 0 285553 chr5 138209944 138209944 T A rs747937872 LRRTM2 Nonsynonymous SNV E102D 0.002 0 0 0 2 0 0 0 0 0 0 0 19.3 285554 chr1 2408110 2408110 G C rs79733537 PLCH2 Nonsynonymous SNV G28A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.147 285555 chr1 2453163 2453163 G A rs78763061 PANK4 Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 285556 chr19 14029626 14029626 A C CC2D1A Synonymous SNV T338T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 285557 chr18 33289676 33289676 A G rs145884536 GALNT1 Nonsynonymous SNV N541S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 285558 chrX 118716630 118716630 A G rs61757566 UBE2A Synonymous SNV T77T 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 8.859 285559 chrX 129147530 129147530 C T rs143414966 BCORL1 Nonsynonymous SNV A261V 0 0 0.007 0 0 0 0 2 0 0 1 0 1.986 285560 chrX 135426799 135426799 A G rs760539226 ADGRG4 Nonsynonymous SNV T312A 0 0 0.007 0 0 0 0 2 0 0 1 0 1.354 285561 chr18 46468880 46468880 G A rs773511006 SMAD7 Nonsynonymous SNV T50M 0 0.005 0 0 0 2 0 0 0 0 0 0 25.2 285562 chrX 151092227 151092227 C T rs61743686 MAGEA4 Nonsynonymous SNV P31S 0 0 0.007 0 0 0 0 2 0 0 1 0 13.12 285563 chrX 151138831 151138831 G A rs61730038 GABRE Nonsynonymous SNV R34C 0 0 0.007 0 0 0 0 2 0 0 1 0 10.3 285564 chrX 153175242 153175242 G A rs782434363 ARHGAP4 Synonymous SNV N789N 0 0 0.007 0 0 0 0 2 0 0 1 0 0.041 285565 chrX 19449583 19449583 T C rs373969675 MAP3K15 Nonsynonymous SNV D380G 0.001 0 0.014 0 1 0 0 4 0 0 2 0 9.409 285566 chrX 34148335 34148335 G A FAM47A Synonymous SNV T687T 0 0 0.007 0 0 0 0 2 0 0 1 0 1.451 285567 chr5 168189663 168189663 G A rs187066924 SLIT3 Synonymous SNV S497S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 285568 chrX 48457210 48457210 G A WDR13 Synonymous SNV A49A 0 0 0.007 0 0 0 0 2 0 0 1 0 9.951 285569 chr19 18547538 18547538 T A ISYNA1 Nonsynonymous SNV S61C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 285570 chrX 84561305 84561305 G A rs746212940 POF1B Nonsynonymous SNV A400V 0 0 0.007 0 0 0 0 2 0 0 1 0 8.81 285571 chr1 3394543 3394543 C T ARHGEF16 Synonymous SNV C526C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.264 285572 chr5 178415997 178415997 C T rs371275499 GRM6 Synonymous SNV P431P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 285573 chr10 101563861 101563861 T A rs780593937 ABCC2 Nonsynonymous SNV M432K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 285574 chr19 21991130 21991130 T C ZNF43 Nonsynonymous SNV E505G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 285575 chr5 178996404 178996404 A G rs1040433502 RUFY1 Nonsynonymous SNV K161R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 285576 chr10 102295739 102295739 T C HIF1AN Synonymous SNV A8A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 285577 chr19 30165184 30165184 G A rs35720974 PLEKHF1 Synonymous SNV A146A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.162 285578 chr19 33306433 33306433 T C rs775348675 TDRD12 Nonsynonymous SNV M1074T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 285579 chr19 35251282 35251282 G A rs375923674 ZNF599 Nonsynonymous SNV H142Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.465 285580 chr1 43233004 43233004 G A rs201793492 C1orf50 Nonsynonymous SNV G8R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 285581 chr10 115608953 115608953 T C DCLRE1A Synonymous SNV R637R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.492 285582 chr4 70865514 70865514 T C rs772919991 STATH Synonymous SNV I30I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 285583 chr19 37643368 37643368 C T rs148806803 ZNF585A Nonsynonymous SNV R478Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 285584 chr19 38384636 38384636 A T rs191648517 WDR87 Synonymous SNV S569S 0 0.005 0.003 0 0 2 0 1 0 0 0 0 0.004 285585 chr19 3543571 3543571 G A rs28375628 C19orf71 Nonsynonymous SNV R114Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 285586 chr19 39017654 39017654 C T rs536304635 RYR1 Nonsynonymous SNV R3545W 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 285587 chr19 39322085 39322087 CCT - rs769310083 ECH1 E41del 0 0.003 0 0 0 1 0 0 0 0 0 0 285588 chr4 7774522 7774522 C T rs112746335 AFAP1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.728 285589 chr19 40711851 40711858 GCGGCACA - MAP3K10 A408Gfs*20 0 0.003 0 0 0 1 0 0 0 0 0 0 285590 chr19 40711863 40711863 C - MAP3K10 Q412Sfs*34 0 0.003 0 0 0 1 0 0 0 0 0 0 285591 chr19 40711866 40711866 - CTCT MAP3K10 Frameshift insertion R413Pfs*19 0 0.003 0 0 0 1 0 0 0 0 0 0 285592 chr19 40711870 40711870 T G MAP3K10 Nonsynonymous SNV F414C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 285593 chr19 40711873 40711873 A - MAP3K10 Q415Rfs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 285594 chr19 40711876 40711876 A C MAP3K10 Nonsynonymous SNV E416A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 285595 chr19 40711879 40711879 A G MAP3K10 Nonsynonymous SNV E417G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 285596 chr19 40711880 40711880 - ACC MAP3K10 E417_Q418insT 0 0.003 0 0 0 1 0 0 0 0 0 0 285597 chr19 40711885 40711885 T - MAP3K10 L419Rfs*27 0 0.003 0 0 0 1 0 0 0 0 0 0 285598 chr19 40711888 40711888 - TGTGTCTGGTTCACCCTGACGTCAAGT MAP3K10 Stop gain R421_H954delinsVSGSP 0 0.003 0 0 0 1 0 0 0 0 0 0 285599 chr19 40711890 40711890 C G MAP3K10 Nonsynonymous SNV R421G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 285600 chr19 40711893 40711893 - CCG MAP3K10 R422delinsPG 0 0.003 0 0 0 1 0 0 0 0 0 0 285601 chr19 40711898 40711899 GC - MAP3K10 Q424Gfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 285602 chr19 40711902 40711905 GAGC - MAP3K10 E425Wfs*20 0 0.003 0 0 0 1 0 0 0 0 0 0 285603 chr4 80328562 80328562 C T rs746776214 GK2 Nonsynonymous SNV V265I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 285604 chr19 41250534 41250534 G A rs553254440 C19orf54 Nonsynonymous SNV R19C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 285605 chr19 4523932 4523932 G A rs771676540 PLIN5 Nonsynonymous SNV R334C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.25 285606 chr19 44030709 44030709 C T rs138958351 ETHE1 Nonsynonymous SNV A62T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 285607 chr10 21805667 21805667 G A rs751132666 SKIDA1 Nonsynonymous SNV P362L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.52 285608 chr19 6906473 6906473 A T ADGRE1 Nonsynonymous SNV I186L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.247 285609 chr4 95155260 95155260 A G rs985794988 SMARCAD1 Nonsynonymous SNV N175S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 285610 chr4 95255725 95255725 C T rs148462970 HPGDS Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 285611 chr1 75038148 75038148 C A rs144055915 ERICH3 Nonsynonymous SNV R1082S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 285612 chr12 80712406 80712406 G A rs370851492 OTOGL Nonsynonymous SNV V1230I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.843 285613 chr19 46130090 46130090 T C rs375673428 EML2 Nonsynonymous SNV N89S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.42 285614 chr10 50256608 50256608 G A rs146221871 VSTM4 Synonymous SNV S230S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 285615 chr10 50533513 50533513 G A C10orf71 Nonsynonymous SNV D975N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 285616 chr10 50714028 50714028 T C rs756131467 ERCC6 Synonymous SNV K476K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.031 285617 chr10 52103610 52103610 C T rs760832061 SGMS1 Nonsynonymous SNV V89I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.248 285618 chr10 52575866 52575866 G A rs762007474 A1CF Synonymous SNV F347F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 285619 chr10 52595910 52595910 G T rs145247425 A1CF Synonymous SNV T176T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.772 285620 chr5 167943907 167943907 A C RARS1 Nonsynonymous SNV D526A 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 285621 chr10 5948394 5948394 T C rs146670441 FBH1 Synonymous SNV A110A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.025 285622 chr6 112506496 112506496 G A rs147822567 LAMA4 Synonymous SNV N340N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.44 285623 chr19 49355503 49355503 C T rs375142860 PLEKHA4 Synonymous SNV L444L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 285624 chr10 69902813 69902813 C G rs777080663 MYPN Nonsynonymous SNV S340C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 285625 chr12 111923574 111923574 C G rs756316577 ATXN2 Nonsynonymous SNV Q671H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 285626 chr6 126080612 126080612 C G HEY2 Synonymous SNV L226L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.16 285627 chr19 50100847 50100847 C T PRR12 Synonymous SNV D1085D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 285628 chr6 132891559 132891559 G T rs761369988 TAAR6 Synonymous SNV V33V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.836 285629 chr10 75013901 75013901 G A rs574249327 DNAJC9-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 285630 chr19 11096912 11096912 C G rs150949949 SMARCA4 Nonsynonymous SNV P135A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21 285631 chr10 77159842 77159842 G C ZNF503 Synonymous SNV G202G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.121 285632 chr10 77159845 77159845 G C ZNF503 Synonymous SNV G201G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.262 285633 chr19 11618377 11618377 C - ECSIT E102Kfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 285634 chr20 18142668 18142668 G A rs147310108 KAT14 Nonsynonymous SNV R296Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 285635 chr10 89603836 89603836 T - CFL1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 285636 chr19 14083866 14083866 C T rs753483809 RFX1 Nonsynonymous SNV A335T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.496 285637 chr10 93773514 93773514 C T BTAF1 Nonsynonymous SNV P1468S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 285638 chr19 14655993 14655993 G C TECR 0 0.003 0 0 0 1 0 0 0 0 0 0 0.357 285639 chr10 99130755 99130755 G A rs61739160 RRP12 Synonymous SNV F709F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.37 285640 chr12 133304017 133304017 G A rs372030991 ANKLE2 Synonymous SNV P876P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.728 285641 chr5 149447887 149447887 T G rs142543645 CSF1R Nonsynonymous SNV H506P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 285642 chr19 15918678 15918678 G T rs201182090 OR10H1 Nonsynonymous SNV T57K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 285643 chr19 55739758 55739758 G A rs111961448 TMEM86B Synonymous SNV C32C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 285644 chr19 55789079 55789079 C T rs113376650 HSPBP1 Nonsynonymous SNV D162N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 285645 chr19 55866691 55866691 C G FAM71E2 Nonsynonymous SNV E916Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 285646 chr5 163235 163235 G A rs146510418 PLEKHG4B Synonymous SNV A1016A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.856 285647 chr6 24798903 24798903 A G rs1012079531 ARMH2 Synonymous SNV L61L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 285648 chr19 20002939 20002939 C T rs201744187 ZNF253 Nonsynonymous SNV H219Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 285649 chr11 111385534 111385534 C G rs111247821 C11orf88 Nonsynonymous SNV P9A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.691 285650 chr19 21131885 21131885 C T rs61734280 ZNF85 Synonymous SNV L125L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.393 285651 chr11 113561002 113561002 G T rs746155548 TMPRSS5 Nonsynonymous SNV P273H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 285652 chr5 177562258 177562258 G A RMND5B Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.385 285653 chr5 79028439 79028439 C T CMYA5 Nonsynonymous SNV P1284L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 285654 chr6 35255451 35255451 C T rs376706823 ZNF76 Synonymous SNV A87A 0.001 0 0 0 1 0 0 0 0 0 0 0 15 285655 chr6 35715053 35715053 G A rs367576732 ARMC12 Nonsynonymous SNV V154I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 285656 chr5 33624435 33624435 T C ADAMTS12 Nonsynonymous SNV I682V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 285657 chr20 944641 944641 C T RSPO4 Nonsynonymous SNV A178T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.766 285658 chr19 36388593 36388593 G A rs371539798 NFKBID Nonsynonymous SNV S141L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.27 285659 chr6 107097063 107097063 T C rs765545478 QRSL1 Nonsynonymous SNV F182L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 285660 chr6 42989413 42989413 - GCCGGG rs756658144 RRP36 A16_R17insGA 0.001 0 0 0 1 0 0 0 0 0 0 0 285661 chr6 111310239 111310239 - A RPF2 Frameshift insertion P58Tfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 285662 chr11 128556555 128556555 A G rs74718604 LOC101929538 0 0 0.01 0 0 0 0 3 0 0 1 0 19.58 285663 chr11 128556572 128556572 C T rs79811806 LOC101929538 0 0 0.01 0 0 0 0 3 0 0 1 0 21.2 285664 chr5 60067898 60067898 G A rs779425961 ELOVL7 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 285665 chr5 60839390 60839390 G T ZSWIM6 Nonsynonymous SNV R965L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 285666 chr20 18287023 18287023 C T rs149645929 ZNF133 Nonsynonymous SNV P75L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.142 285667 chr14 21490604 21490604 G A rs75579840 NDRG2 Nonsynonymous SNV T53I 0 0 0 2 0 0 0.005 0 0 0 0 0 19.23 285668 chr19 40541883 40541883 G A rs776236486 ZNF780B Nonsynonymous SNV H295Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 285669 chr19 41699224 41699224 C A rs373031805 CYP2S1 Nonsynonymous SNV L19M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.54 285670 chr6 54002335 54002335 T A rs139885188 MLIP Nonsynonymous SNV S479T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.814 285671 chr19 42814791 42814791 G A rs199647990 PRR19 Nonsynonymous SNV D324N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 285672 chr19 42841018 42841018 C T rs200021307 MEGF8 Nonsynonymous SNV T435M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 285673 chr19 44096234 44096234 C T IRGQ Nonsynonymous SNV D606N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.13 285674 chr11 20101715 20101715 A C rs149975993 NAV2 Nonsynonymous SNV N826T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 285675 chr14 38183928 38183928 G A rs78042024 TTC6 Nonsynonymous SNV G563E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.261 285676 chr5 89814788 89814788 A T rs192126274 LYSMD3 Nonsynonymous SNV S257T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.77 285677 chr20 44598178 44598178 C G ZNF335 Synonymous SNV L118L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 285678 chr11 3660238 3660238 G A rs142998376 ART5 Nonsynonymous SNV A204V 0.003 0 0.003 0 3 0 0 1 0 0 0 0 1.699 285679 chr6 10730867 10730867 G A rs764806329 TMEM14C Nonsynonymous SNV V103I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 285680 chr19 49141389 49141389 G A rs771068624 CA11 Nonsynonymous SNV P325L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 285681 chr19 49232203 49232203 C T RASIP1 Synonymous SNV E608E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.66 285682 chr19 49931331 49931331 C G rs140070857 GFY Nonsynonymous SNV R438G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 285683 chr14 68229096 68229096 C A rs781144742 ZFYVE26 Nonsynonymous SNV A2065S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 285684 chr19 51170407 51170407 G T rs756873436 SHANK1 Nonsynonymous SNV P1604T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.782 285685 chr6 129927092 129927092 T C ARHGAP18 Nonsynonymous SNV K432R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.276 285686 chr19 51768737 51768737 G - rs760648589 SIGLECL1 G47Vfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 285687 chr6 137113095 137113095 A G rs992331117 MAP3K5 Synonymous SNV C67C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 285688 chr21 35821733 35821733 C T rs79654911 KCNE1, KCNE1B Nonsynonymous SNV R67H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 285689 chr19 52887453 52887453 C T ZNF880 Nonsynonymous SNV T207I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.492 285690 chr6 43251344 43251344 G A rs140915016 TTBK1 Nonsynonymous SNV A956T 0.004 0 0 1 5 0 0.003 0 0 0 0 0 0.001 285691 chr21 43166786 43166786 C T rs139503982 RIPK4 Synonymous SNV R273R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 11.07 285692 chr14 100759283 100759283 G A rs35529026 SLC25A29 Synonymous SNV T17T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.395 285693 chr7 138602524 138602524 G A rs903688640 KIAA1549 Synonymous SNV P616P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.572 285694 chr19 55824328 55824328 C T rs199670461 TMEM150B Nonsynonymous SNV V201I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 285695 chr21 47627393 47627393 G C rs767705167 LSS Synonymous SNV P392P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.969 285696 chr19 56005062 56005062 C G rs533123992 SSC5D Synonymous SNV A332A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.27 285697 chr19 56090026 56090026 G A rs769417719 ZNF579 Nonsynonymous SNV A327V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 285698 chr22 19789590 19789590 C T rs566824805 GNB1L Synonymous SNV R222R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 285699 chr6 75831103 75831103 A G rs796052093 COL12A1 Nonsynonymous SNV I1170T 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 24.5 285700 chr15 31197469 31197469 C T rs142084532 FAN1 Synonymous SNV D201D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.83 285701 chr6 17637521 17637521 C T rs763324422 NUP153 Nonsynonymous SNV S734N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 285702 chr7 127957780 127957780 T C RBM28 Nonsynonymous SNV I433V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 285703 chr6 84291975 84291975 A G SNAP91 Synonymous SNV P398P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.434 285704 chr15 34118943 34118943 A T RYR3 Synonymous SNV G3740G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.638 285705 chr19 57889326 57889326 G A ZNF547 Nonsynonymous SNV E328K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 285706 chr11 609278 609278 C T rs199984677 PHRF1 Synonymous SNV F1274F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.02 285707 chr22 28378294 28378294 G A rs199899926 TTC28 Nonsynonymous SNV A2454V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.208 285708 chr22 29915042 29915042 G A rs377263785 THOC5 Nonsynonymous SNV T481I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 285709 chr15 42116129 42116129 C T rs759775485 MAPKBP1 Synonymous SNV S1361S 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.87 285710 chr6 39034014 39034014 C T rs750528282 GLP1R Synonymous SNV Y148Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 285711 chr20 3673659 3673659 G A rs773433036 SIGLEC1 Nonsynonymous SNV R1210C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 285712 chr22 40802605 40802605 C G rs754391946 SGSM3 Nonsynonymous SNV A312G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 285713 chr22 41647040 41647040 G A rs757832820 RANGAP1 Nonsynonymous SNV T485I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 285714 chr22 46768864 46768864 T C CELSR1 Nonsynonymous SNV M2559V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.17 285715 chr20 34091435 34091435 T G CEP250 Nonsynonymous SNV H1114Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.001 285716 chr11 74952790 74952790 C T rs944653947 TPBGL Synonymous SNV A232A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 285717 chr11 75136537 75136537 C T KLHL35 Synonymous SNV A425A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 285718 chr20 37396159 37396159 G A rs779765563 ACTR5 Nonsynonymous SNV G496S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 285719 chr22 51010454 51010454 T C CPT1B Nonsynonymous SNV Q485R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 285720 chr7 6541478 6541478 G A rs371034335 GRID2IP Synonymous SNV S1111S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 285721 chr2 179430152 179430152 C T TTN Nonsynonymous SNV V17838I 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.98 285722 chrX 15574232 15574232 T C rs760164275 BMX Nonsynonymous SNV S663P 0 0.005 0 0 0 2 0 0 0 1 0 0 23.1 285723 chrX 15809099 15809099 G A rs776097997 ZRSR2 Synonymous SNV K28K 0 0.005 0 0 0 2 0 0 0 1 0 0 13.19 285724 chr20 44691307 44691307 C T rs777995358 NCOA5 Nonsynonymous SNV G353R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 285725 chr20 45173984 45173984 C T rs752629994 OCSTAMP Synonymous SNV T343T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.78 285726 chr2 179751544 179751544 C G CCDC141 Nonsynonymous SNV G488R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 285727 chr6 97344676 97344676 G A rs78567928 NDUFAF4 Synonymous SNV L62L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.321 285728 chr20 56803463 56803463 C T rs756924527 ANKRD60 Nonsynonymous SNV A83T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.672 285729 chr12 10045694 10045694 C G rs184171143 KLRF2 Nonsynonymous SNV T98R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 285730 chr20 58441624 58441624 A G rs548415123 SYCP2 Synonymous SNV S1382S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.786 285731 chr16 324264 324264 G A rs373649420 RGS11 Nonsynonymous SNV T86I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 285732 chr12 110234347 110234347 A G TRPV4 Nonsynonymous SNV Y392H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 285733 chr7 17836472 17836472 C T rs200328875 SNX13 Synonymous SNV T879T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 285734 chr7 20768079 20768079 G A ABCB5 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 285735 chrY 15591445 15591445 T G UTY Nonsynonymous SNV E34A 0 0.005 0 0 0 2 0 0 0 1 0 0 11.88 285736 chr16 2818063 2818063 T C SRRM2 Nonsynonymous SNV S2512P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 285737 chr21 33951129 33951129 C G rs746406922 C21orf59-TCP10L, TCP10L Nonsynonymous SNV A125P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.87 285738 chr16 3119296 3119296 - T rs781656938 IL32 Frameshift insertion R161Sfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 285739 chr2 218713648 218713648 G A rs759438688 TNS1 Nonsynonymous SNV S406L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 285740 chr1 3386026 3386028 CTC - rs765928654 ARHGEF16 S298del 0 0.003 0 0 0 1 0 0 0 0 0 0 285741 chr16 4744304 4744304 C T rs1011078373 NUDT16L1 Nonsynonymous SNV P160L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.22 285742 chr2 220285661 220285661 G A rs59962885 DES Nonsynonymous SNV A337T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.1 285743 chr1 6293647 6293647 T C rs41278924 ICMT Nonsynonymous SNV N114S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.24 285744 chr12 132334541 132334541 G A rs184269105 MMP17 Nonsynonymous SNV A467T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 285745 chr8 144297361 144297361 G C rs145844329 GPIHBP1 Nonsynonymous SNV G175R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.89 285746 chr16 17232141 17232141 - CTTGGATTTCTGCAGAGGTTTGTTGG rs558255318 LOC102723692 0 0 0 1 0 0 0.003 0 0 0 0 0 285747 chr8 144358764 144358764 C T rs758217632 GLI4 Synonymous SNV S307S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.488 285748 chr12 20801636 20801636 C T rs377609726 PDE3A Synonymous SNV N538N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 285749 chr21 46876600 46876600 G A rs1050243795 COL18A1 Nonsynonymous SNV A386T 0 0.003 0 0 0 1 0 0 0 0 0 0 17 285750 chr16 21073905 21073905 A T DNAH3 Synonymous SNV I1160I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.521 285751 chr21 46936052 46936052 G A SLC19A1 Synonymous SNV F392F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.101 285752 chr1 16736348 16736348 T A rs777727820 SPATA21 Nonsynonymous SNV K89M 0.002 0.005 0.003 0 2 2 0 1 0 0 0 0 17.68 285753 chr22 17600538 17600538 G A TMEM121B Stop gain Q494X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 285754 chr1 17588650 17588650 G A PADI3 Nonsynonymous SNV S99N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.11 285755 chr22 18561190 18561190 G T rs764244307 PEX26 Synonymous SNV G16G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.435 285756 chr22 19220018 19220018 G A rs201800229 CLTCL1 Nonsynonymous SNV P542L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.3 285757 chr7 148769149 148769149 G A rs371873525 ZNF786 Nonsynonymous SNV H239Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 285758 chr7 148800826 148800826 G A rs142180575 ZNF425 Synonymous SNV L713L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 285759 chr7 150069018 150069018 G T rs764030208 REPIN1 Nonsynonymous SNV D230Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 285760 chr22 22287800 22287800 C T rs140855421 PPM1F Nonsynonymous SNV R237H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.127 285761 chr1 22915816 22915816 C T rs187066665 EPHA8 Nonsynonymous SNV L478F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.114 285762 chr22 26165340 26165340 A G rs761910322 MYO18B Nonsynonymous SNV D486G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.143 285763 chr12 7045895 7045909 CAGCAGCAGCAGCAG - ATN1 Q498_Q502del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 285764 chr22 29445659 29445659 G A ZNRF3 Nonsynonymous SNV R497H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 285765 chr16 58438541 58438541 C T GINS3 Stop gain Q109X 0 0 0 1 0 0 0.003 0 0 0 0 0 43 285766 chr22 30766918 30766918 G A rs369601797 CCDC157 Nonsynonymous SNV D342N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 285767 chr7 21907591 21907591 G A rs187489343 DNAH11 Synonymous SNV P3935P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.35 285768 chr7 23000032 23000032 A C rs150739070 FAM126A Synonymous SNV V278V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.62 285769 chr7 23213893 23213893 A G rs746802606 KLHL7 Synonymous SNV A579A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.603 285770 chr1 27687743 27687743 G A rs374727579 MAP3K6 Synonymous SNV S571S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.996 285771 chr1 32209910 32209910 G A rs201728918 ADGRB2 Nonsynonymous SNV T324M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 285772 chr1 32687616 32687616 T C rs200032113 TMEM234 Nonsynonymous SNV Q7R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 285773 chr1 33161113 33161113 G A rs199700360 SYNC Nonsynonymous SNV L196F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 285774 chr7 38869923 38869923 A C rs767200170 VPS41 Synonymous SNV P84P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 285775 chr1 37948927 37948927 G A rs367881286 ZC3H12A Synonymous SNV A505A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.672 285776 chr1 38022607 38022607 C T rs200317363 DNALI1 Synonymous SNV P4P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 285777 chr7 42088206 42088206 G T rs369926331 GLI3 Nonsynonymous SNV S188Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 29 285778 chr7 42949945 42949945 G C rs73321756 C7orf25 Synonymous SNV G243G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.784 285779 chr7 4304961 4304961 C A rs976808138 SDK1 Nonsynonymous SNV T2196N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 285780 chr1 39395131 39395131 T C rs750679607 RHBDL2 Synonymous SNV G17G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.708 285781 chr22 40661041 40661041 A G rs186669938 TNRC6B Synonymous SNV Q269Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 285782 chr7 47853044 47853044 C T rs771404180 C7orf69 0.001 0 0 0 1 0 0 0 0 0 0 0 2.3 285783 chr22 42605821 42605821 T C rs145292779 TCF20 Nonsynonymous SNV T1831A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.216 285784 chr2 61510333 61510333 C T rs754535533 USP34 Nonsynonymous SNV D1649N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 285785 chr16 84188205 84188205 G A DNAAF1 Nonsynonymous SNV E126K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 285786 chr12 6562652 6562652 A G rs143238457 TAPBPL Nonsynonymous SNV H112R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 285787 chr22 44221922 44221922 T G rs775766086 SULT4A1 Nonsynonymous SNV K272Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 285788 chr12 6701085 6701085 T C rs143645855 CHD4 Synonymous SNV A1022A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.166 285789 chr1 46642091 46642091 G C LOC110117498-PIK3R3, P3R3URF Nonsynonymous SNV P18R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.2 285790 chr16 84492871 84492871 C T rs373954854 ATP2C2-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 11.75 285791 chr1 46663478 46663478 G A POMGNT1 Nonsynonymous SNV P6S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 285792 chr22 47311761 47311761 C T rs544673936 TBC1D22A-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.357 285793 chr1 51887550 51887550 T C EPS15 Nonsynonymous SNV I27V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.61 285794 chr12 7288855 7288855 C T rs746318546 CLSTN3 Nonsynonymous SNV P266S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 285795 chr22 50657253 50657253 T C rs149368919 TUBGCP6 Nonsynonymous SNV Q1567R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.9 285796 chr16 88779231 88779231 C T rs201058922 CTU2 Nonsynonymous SNV P132S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 285797 chr1 55088984 55088984 C T rs145547430 FAM151A Nonsynonymous SNV A29T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 285798 chr12 80730266 80730266 T G OTOGL Synonymous SNV A1549A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 285799 chr12 91340252 91340252 - T rs765621920 LINC00615 0 0 0.003 0 0 0 0 1 0 0 0 0 285800 chr12 9162132 9162132 G C KLRG1 X111S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.065 285801 chr2 89037544 89037544 C T rs368582524 RPIA Synonymous SNV D263D 0.003 0 0 1 3 0 0.003 0 0 0 0 0 Uncertain significance 14.85 285802 chr16 89811470 89811470 G A FANCA Nonsynonymous SNV P1175S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.3 285803 chr2 99291510 99291510 C T rs769836787 MGAT4A Nonsynonymous SNV G131R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 28 285804 chrX 53457578 53457578 C T rs148562683 RIBC1 Nonsynonymous SNV R185C 0 0.005 0 0 0 2 0 0 0 1 0 0 22.9 285805 chr13 103385422 103385424 TGT - CCDC168 T5875del 0 0 0.007 0 0 0 0 2 0 0 0 0 285806 chr1 71477989 71477989 T C rs976618124 PTGER3 Nonsynonymous SNV Q359R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 285807 chr17 1782901 1782901 G A rs761441868 RPA1 Nonsynonymous SNV V321M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 285808 chrX 71838594 71838594 G T rs144670958 PHKA1 Nonsynonymous SNV Q720K 0.003 0.005 0 0 3 2 0 0 1 1 0 0 Uncertain significance 22.6 285809 chr3 111700790 111700790 A G rs10433337 ABHD10 Nonsynonymous SNV K101R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 285810 chr1 89477430 89477430 C T rs199945767 GBP3 Synonymous SNV A249A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.785 285811 chr3 113784270 113784270 G T rs201253930 QTRT2 Nonsynonymous SNV V68F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 285812 chrX 123467211 123467211 G A rs987124940 TEX13D Synonymous SNV Q148Q 0 0.005 0 0 0 2 0 0 0 1 0 0 4.722 285813 chr1 91859910 91859910 A G rs769890245 HFM1 Synonymous SNV N78N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.871 285814 chr8 11172536 11172536 G C rs139630635 MTMR9 Nonsynonymous SNV R359P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 32 285815 chrX 139038821 139038821 G C rs375191784 CXorf66 Nonsynonymous SNV P107R 0 0.005 0 0 0 2 0 0 0 1 0 0 17.94 285816 chr17 4848054 4848054 A G rs779606985 RNF167 Nonsynonymous SNV K231E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 285817 chr13 28942743 28942743 G T rs756983654 FLT1 Stop gain S725X 0 0 0.003 0 0 0 0 1 0 0 0 0 0.753 285818 chr17 5009282 5009282 T C rs753361576 ZNF232 Nonsynonymous SNV E382G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 285819 chr17 5436285 5436285 T C rs202226497 NLRP1 Synonymous SNV V1021V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.51 285820 chrX 150841054 150841054 G A rs761254205 PASD1 Nonsynonymous SNV V613I 0 0.005 0.003 0 0 2 0 1 0 1 0 0 0.001 285821 chrX 150868589 150868589 C T rs376429280 PRRG3 Synonymous SNV Y43Y 0 0.005 0 0 0 2 0 0 0 1 0 0 12.83 285822 chrX 153716491 153716491 C T rs7877194 SLC10A3 Synonymous SNV S263S 0 0.005 0.003 0 0 2 0 1 0 1 0 0 8.71 285823 chr17 7220882 7220882 G A rs201510826 NEURL4 Nonsynonymous SNV R1404C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 285824 chr17 7473756 7473756 G A rs199737748 SENP3 Nonsynonymous SNV R475Q 0 0 0 1 0 0 0.003 0 0 0 0 0 16.06 285825 chr17 7691262 7691262 G A rs777737981 DNAH2 Nonsynonymous SNV A2230T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.286 285826 chr8 142229068 142229068 C T SLC45A4 Nonsynonymous SNV G173D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 285827 chr9 136227205 136227208 GACA - rs745823928 SURF2 D196Kfs*38 0.001 0 0 0 1 0 0 0 0 0 0 0 285828 chr1 118596676 118596676 T C SPAG17 Synonymous SNV E921E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.621 285829 chr17 11511538 11511538 A G rs771610977 DNAH9 Synonymous SNV Q170Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.046 285830 chr14 101500173 101500173 A - rs535805154 MIR495 0 0 0.003 0 0 0 0 1 0 0 0 0 285831 chr17 16229133 16229133 G A rs769286648 PIGL Nonsynonymous SNV R227H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 285832 chr3 139279951 139279951 G A rs116410811 NMNAT3 Synonymous SNV P131P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.451 285833 chr17 18218044 18218044 C T TOP3A Nonsynonymous SNV E17K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.687 285834 chr1 10394638 10394638 C T rs150904940 KIF1B Synonymous SNV I949I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.28 285835 chr1 11190640 11190640 G A rs559172204 MTOR Synonymous SNV A1853A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 285836 chr3 14799021 14799021 T G C3orf20 Nonsynonymous SNV V573G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 285837 chr14 20850101 20850101 C T rs755075933 TEP1 Synonymous SNV P1357P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 285838 chr3 15297826 15297879 GATTATCAAAAGTGAGTATTGACAATTCTGCCCTGTCTCCTATAGAAATACAAA - SH3BP5-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 285839 chr1 155629783 155629783 C G rs759720641 YY1AP1 Nonsynonymous SNV D629H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 285840 chr1 155735598 155735598 T A rs754255886 GON4L Nonsynonymous SNV E1222D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 285841 chr3 15471470 15471470 G A rs749528598 EAF1 Nonsynonymous SNV V52I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.7 285842 chr14 21875066 21875066 T G CHD8 Synonymous SNV R952R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.759 285843 chr1 160085659 160085659 G A rs781687346 ATP1A2 Nonsynonymous SNV R3H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 285844 chr1 23664352 23664352 G A rs746312328 HNRNPR Synonymous SNV N93N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 285845 chr1 161967736 161967736 T C OLFML2B Synonymous SNV P452P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.364 285846 chr1 169572375 169572375 A C SELP Nonsynonymous SNV Y532D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 285847 chr1 169697218 169697218 G A rs5365 SELE Synonymous SNV N420N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.589 285848 chr17 39216256 39216256 C G rs36006291 KRTAP2-3 Nonsynonymous SNV G16A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 285849 chr1 169847820 169847820 A T rs61734334 SCYL3 Synonymous SNV A102A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.408 285850 chr14 57279995 57279995 G T rs931672288 OTX2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 285851 chr1 170964656 170964656 C G rs146017765 MROH9 Nonsynonymous SNV L441V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 285852 chr1 171511200 171511200 A G rs147214175 PRRC2C Nonsynonymous SNV N1530S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.416 285853 chr1 171751227 171751227 G C rs144116274 EEF1AKNMT Synonymous SNV G40G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 285854 chr3 27233565 27233565 G A rs758311602 NEK10 Synonymous SNV N132N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.915 285855 chr14 64600846 64600846 A G rs568071525 SYNE2 Nonsynonymous SNV I4858M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.519 285856 chr14 64749674 64749674 A G ESR2 Synonymous SNV L10L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.698 285857 chr1 36030913 36030913 G A rs754867509 NCDN Synonymous SNV P596P 0 0.005 0 0 0 2 0 0 0 1 0 0 6.775 285858 chr8 80915354 80915354 A C MRPS28 Nonsynonymous SNV M92R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 285859 chr1 182517922 182517922 A G RGSL1 Nonsynonymous SNV M966V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.148 285860 chr1 42880177 42880177 G A rs139332664 RIMKLA Synonymous SNV P236P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.969 285861 chr1 43396306 43396306 G A rs115541691 SLC2A1 Synonymous SNV L169L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.062 285862 chr1 43804382 43804382 G T rs201101813 MPL Nonsynonymous SNV D128Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 285863 chr1 43907421 43907421 G A rs180898007 SZT2 Synonymous SNV L2501L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.278 285864 chr1 44169253 44169253 G C rs114981276 KDM4A-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 285865 chrX 119708447 119708447 C T rs149016283 CUL4B Nonsynonymous SNV G9E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.73 285866 chr9 136302003 136302003 G C rs587613923 ADAMTS13 Nonsynonymous SNV G455R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 285867 chr14 81209583 81209583 A G CEP128 Nonsynonymous SNV L881P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 285868 chr1 200522808 200522808 G A KIF14 Nonsynonymous SNV P1061L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 285869 chr1 46977791 46977791 G C rs114951731 DMBX1 Synonymous SNV S258S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.903 285870 chr1 47013417 47013417 C T rs115695168 KNCN Synonymous SNV G97G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.407 285871 chr9 102866905 102866905 C T rs115640267 INVS Synonymous SNV I34I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.61 285872 chrX 132445391 132445391 G A rs199910189 GPC4 Nonsynonymous SNV R258W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 285873 chr14 91766387 91766387 C T rs368871964 CCDC88C Synonymous SNV A1221A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.63 285874 chr14 92625496 92625496 T C CPSF2 Nonsynonymous SNV V613A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.752 285875 chr1 53559211 53559211 C T rs142744203 SLC1A7 Nonsynonymous SNV G168D 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 285876 chr1 203150310 203150310 G A rs371464402 CHI3L1 Nonsynonymous SNV P231S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 285877 chr1 55130849 55130849 A C rs761336036 MROH7 Nonsynonymous SNV D414A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.114 285878 chr3 48658315 48658315 C T rs140040188 TMEM89 Nonsynonymous SNV R147Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.996 285879 chr1 205277786 205277786 C T rs142613609 NUAK2 Nonsynonymous SNV E143K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 285880 chrX 152772545 152772545 G A BGN Nonsynonymous SNV G271R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 285881 chr15 100537759 100537759 G A rs572716880 ADAMTS17 Nonsynonymous SNV T876I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.6 285882 chrX 153716736 153716736 C T rs138863812 SLC10A3 Nonsynonymous SNV A182T 0.003 0 0 0 3 0 0 0 1 0 0 0 0.001 285883 chrX 23953363 23953363 C T rs372466657 CXorf58 Synonymous SNV N202N 0.003 0 0 1 3 0 0.003 0 1 0 0 0 4.553 285884 chr17 62489123 62489123 T C rs782228671 POLG2 Nonsynonymous SNV Y193C 0 0 0 2 0 0 0.005 0 0 0 0 0 26.8 285885 chr1 220170479 220170479 C A rs200164911 EPRS1 Nonsynonymous SNV G796V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 34 285886 chr3 78987824 78987824 T C ROBO1 Synonymous SNV E103E 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.022 285887 chr3 8661583 8661583 G A rs527849754 SSUH2 Nonsynonymous SNV R367W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.89 285888 chr3 89499515 89499515 C T rs76565471 EPHA3 Synonymous SNV A895A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.79 285889 chr1 100568554 100568554 G A rs540974549 SASS6 Nonsynonymous SNV S377L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.49 285890 chr1 103345472 103345472 G T COL11A1 Nonsynonymous SNV L1565I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 285891 chr1 112322852 112322852 T C rs149008060 KCND3 Nonsynonymous SNV T486A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 285892 chr1 6206743 6206743 G A CHD5 Synonymous SNV S524S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 285893 chr1 242121747 242121747 G A BECN2 Nonsynonymous SNV D227N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.202 285894 chr15 65472527 65472527 C G rs142954778 CLPX Nonsynonymous SNV R32P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 285895 chr17 79204379 79204379 C T TEPSIN Nonsynonymous SNV G332S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 285896 chr1 10412735 10412735 C T KIF1B Synonymous SNV A1286A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 285897 chr1 147092399 147092399 G A rs377751000 BCL9 Nonsynonymous SNV R813Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28 285898 chr1 11288736 11288736 C T MTOR Nonsynonymous SNV A1007T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 285899 chr1 11839071 11839071 T C C1orf167 Nonsynonymous SNV L862P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 285900 chr1 248402786 248402786 C T rs752250842 OR2M4 Nonsynonymous SNV P186S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.74 285901 chr1 153314126 153314126 C T rs148195147 PGLYRP4 Nonsynonymous SNV R201Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.032 285902 chr15 82338028 82338028 C T rs755909926 MEX3B Nonsynonymous SNV A7T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 285903 chr4 1657200 1657200 C G rs767802776 FAM53A Nonsynonymous SNV E129D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 285904 chr4 165961946 165961946 C A rs755589198 TRIM60 Nonsynonymous SNV S241Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 285905 chr2 10136090 10136090 C A rs755847604 GRHL1 Nonsynonymous SNV P528Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25 285906 chr2 15694214 15694214 T C rs377337564 NBAS Synonymous SNV K86K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 0.107 285907 chr2 17902474 17902474 T C rs754947981 SMC6 Nonsynonymous SNV I261V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.26 285908 chr1 156642663 156642663 G A rs2282442 NES Synonymous SNV S439S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.45 285909 chr1 160616666 160616666 C T rs371104648 SLAMF1 Nonsynonymous SNV G24R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.56 285910 chr1 985649 985649 A G rs532777950 AGRN Nonsynonymous SNV D1639G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 285911 chr1 1249728 1249728 G A rs775795091 INTS11 Synonymous SNV F142F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 285912 chr1 161753858 161753858 A G rs2271011 ATF6 Nonsynonymous SNV D109G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.3 285913 chr4 25678082 25678082 T C rs138158613 SLC34A2 Nonsynonymous SNV L594P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.668 285914 chr4 2916713 2916713 C T rs756975353 ADD1 Nonsynonymous SNV R570C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 35 285915 chr1 171079981 171079981 G A rs140099441 FMO3 Nonsynonymous SNV V161I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.73 285916 chr16 12798902 12798902 C A rs202086201 CPPED1 Nonsynonymous SNV K98N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 285917 chr1 173823029 173823029 G A rs147603024 DARS2 Nonsynonymous SNV A503T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 285918 chr16 14742391 14742391 A G rs765652744 BFAR Nonsynonymous SNV N137S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 285919 chr2 42483690 42483690 A G rs767451716 EML4 Synonymous SNV G86G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.394 285920 chr1 6530632 6530632 C A rs754624083 PLEKHG5 Synonymous SNV L538L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.85 285921 chr1 179054810 179054810 C T rs200110889 TOR3A Stop gain Q141X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 285922 chr16 1838751 1838751 A C NUBP2 Nonsynonymous SNV K136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.254 285923 chr9 990722 990722 G A rs752990598 DMRT3 Nonsynonymous SNV S379N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.4 285924 chr4 48115226 48115226 G C TXK Nonsynonymous SNV Q58E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 285925 chr18 72228123 72228123 C T rs762435209 CNDP1 Synonymous SNV P112P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 285926 chr1 12820808 12820808 C T rs41301981 C1orf158 Nonsynonymous SNV P132L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.9 285927 chr2 67632252 67632252 A C rs915928097 ETAA1 Nonsynonymous SNV N813T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.2 285928 chr16 2815692 2815692 C G rs780775003 SRRM2 Synonymous SNV P1721P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.917 285929 chr16 29001288 29001288 G A rs763741555 LAT Synonymous SNV E248E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 285930 chr2 73449049 73449049 C T rs147223136 SMYD5 Synonymous SNV D211D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 285931 chr2 74687628 74687628 C A rs369879489 WBP1 Synonymous SNV G210G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 285932 chr1 205116775 205116775 T C DSTYK Nonsynonymous SNV I856V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.41 285933 chr19 2226351 2226351 C A rs368624146 DOT1L Synonymous SNV P1277P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 285934 chr1 208234063 208234063 C T rs150738287 PLXNA2 Synonymous SNV T902T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 18.23 285935 chr2 100022880 100022880 G C rs754043439 REV1 Nonsynonymous SNV Q840E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.741 285936 chr19 2989634 2989634 G A rs201015790 TLE6 Synonymous SNV A242A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 285937 chr16 57685145 57685145 G A rs759353835 ADGRG1 Nonsynonymous SNV R38H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 285938 chr1 63789422 63789422 G C rs779775701 FOXD3 Synonymous SNV L231L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 285939 chr1 225548554 225548554 C G DNAH14 Nonsynonymous SNV A3983G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 285940 chrX 51150636 51150636 T C rs782687896 EZHIP Synonymous SNV A256A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.027 285941 chr2 127960964 127960964 G C CYP27C1 Nonsynonymous SNV F54L 0 0.005 0 0 0 2 0 0 0 0 0 0 26.2 285942 chr2 128350464 128350464 G T rs115012061 MYO7B Synonymous SNV T696T 0 0.005 0 0 0 2 0 0 0 0 0 0 4.974 285943 chr4 982987 982987 C G rs370978800 SLC26A1 Synonymous SNV T580T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.203 285944 chr2 128892482 128892482 A G rs145853825 UGGT1 Synonymous SNV T510T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.121 285945 chr1 228210453 228210453 C A WNT3A Nonsynonymous SNV L53I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 285946 chr1 33959042 33959042 C T rs769861606 ZSCAN20 Nonsynonymous SNV S567L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 285947 chr1 38047133 38047133 G A rs555289288 GNL2 Nonsynonymous SNV T308M 0.003 0.003 0 0 4 1 0 0 0 0 0 0 1.016 285948 chr19 6364551 6364551 C T rs750189341 CLPP Synonymous SNV A152A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.54 285949 chr2 157435635 157435635 A G GPD2 Nonsynonymous SNV K640E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 285950 chr1 93306276 93306276 G A rs142590488 SNORA66 0.001 0 0 0 1 0 0 0 0 0 0 0 6.688 285951 chr1 93312858 93312858 G A rs767266592 DIPK1A Nonsynonymous SNV A74V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 285952 chr1 93341942 93341942 A G rs2811595 DIPK1A Synonymous SNV L34L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.239 285953 chr1 43259337 43259337 G A rs747184796 TMEM269 Nonsynonymous SNV V111M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.39 285954 chr1 237058748 237058748 C T rs12030699 MTR Synonymous SNV L1115L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.34 285955 chr2 163030253 163030253 C - FAP D647Ifs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 285956 chr2 166781132 166781132 C G TTC21B Synonymous SNV L481L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.721 285957 chr2 167133655 167133655 C T rs200494981 SCN9A Synonymous SNV T904T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.8 285958 chr1 244869045 244869045 C T rs142468447 DESI2 Nonsynonymous SNV A147V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.26 285959 chr2 168067347 168067347 G T rs534855387 XIRP2 Nonsynonymous SNV R222L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 285960 chr11 105795386 105795386 G A rs200205997 GRIA4 Nonsynonymous SNV D580N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 285961 chr2 179426177 179426177 G A rs776756769 TTN Nonsynonymous SNV R19163C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 285962 chr17 11144947 11144947 G T SHISA6 Nonsynonymous SNV A70S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.74 285963 chr17 11144948 11144948 C T rs775356615 SHISA6 Nonsynonymous SNV A70V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 285964 chr19 12429962 12429962 A G rs761559526 ZNF563 Nonsynonymous SNV S293P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.071 285965 chr1 153750361 153750361 G A rs139037399 SLC27A3 Synonymous SNV P387P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.302 285966 chr2 201305467 201305467 G T rs562876187 SPATS2L Nonsynonymous SNV V181L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 285967 chr1 154321382 154321382 C T rs41308375 ATP8B2 Nonsynonymous SNV R1140C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 285968 chr2 28802541 28802541 C T rs112426230 PLB1 Synonymous SNV G522G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.34 285969 chr2 29225445 29225445 C T rs199709883 TOGARAM2 Synonymous SNV H157H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.952 285970 chr2 29519852 29519852 G A rs74830770 ALK Synonymous SNV T573T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.162 285971 chr2 30966371 30966371 G C rs140029412 CAPN13 Nonsynonymous SNV F441L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.14 285972 chr5 156218 156218 G A rs764520044 PLEKHG4B Synonymous SNV T747T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.099 285973 chr1 157068997 157068997 G A rs759795311 ETV3L Nonsynonymous SNV R78C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 285974 chr19 17265174 17265174 G A rs764636763 MYO9B Nonsynonymous SNV R383K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 285975 chr2 39050138 39050138 C T rs375740130 DHX57 Synonymous SNV P994P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.33 285976 chr10 33469145 33469145 G T rs146431911 NRP1 Synonymous SNV V860V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.071 285977 chr2 42836614 42836614 A C rs201096010 MTA3 Nonsynonymous SNV E13D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.76 285978 chr10 45954685 45954685 G A MARCHF8 Nonsynonymous SNV R152C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 285979 chr2 220349703 220349703 T A SPEG Synonymous SNV L2506L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.046 285980 chr19 20002788 20002788 T C ZNF253 Synonymous SNV T168T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.011 285981 chr17 34861157 34861157 C T rs540888485 MYO19 Synonymous SNV A628A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 285982 chr10 50854669 50854669 C T rs779724822 CHAT Synonymous SNV G292G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.15 285983 chr17 39115049 39115049 C G rs143643076 KRT39 Nonsynonymous SNV G427A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 285984 chr1 182025839 182025839 G A rs146558952 ZNF648 Nonsynonymous SNV S436F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.563 285985 chr2 87017489 87017489 A C rs760876561 CD8A Nonsynonymous SNV I122S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.827 285986 chr2 88892813 88892813 G A rs147298435 EIF2AK3 Synonymous SNV V97V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.51 285987 chr17 39645916 39645916 G A rs761128080 KRT36 Synonymous SNV Y67Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 285988 chr2 241463514 241463514 G A rs373261373 ANKMY1 Synonymous SNV D221D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.105 285989 chr2 242179466 242179466 G A rs183637245 HDLBP Synonymous SNV G714G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.45 285990 chr5 64756045 64756045 C A rs781743163 ADAMTS6 Nonsynonymous SNV A195S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.051 285991 chr1 204588714 204588714 C T LRRN2 Nonsynonymous SNV S136N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 285992 chr1 205308821 205308821 C T rs201029034 KLHDC8A Synonymous SNV P164P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 285993 chr5 72875159 72875159 G A rs114910959 UTP15 Nonsynonymous SNV R243K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 285994 chr1 161719656 161719656 G C rs747193973 DUSP12 Nonsynonymous SNV S22T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 285995 chr11 100211299 100211299 A G rs200308039 CNTN5 Synonymous SNV L871L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 285996 chr2 160983108 160983108 G A rs764544282 ITGB6 Synonymous SNV N460N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.888 285997 chr2 163124619 163124619 C T rs140562355 IFIH1 Nonsynonymous SNV V929I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 33 285998 chr17 71436968 71436968 C T SDK2 Synonymous SNV E236E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 285999 chr17 72206227 72206227 A G rs57283627 MGC16275 0 0 0.003 0 0 0 0 1 0 0 0 0 3.03 286000 chr1 186839609 186839609 C T PLA2G4A Nonsynonymous SNV R26C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 286001 chr3 47963277 47963277 - T MAP4 Frameshift insertion N169Kfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 286002 chr1 200960225 200960225 C T rs141871941 KIF21B Nonsynonymous SNV R836H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 286003 chr17 73484866 73484866 G A rs144550743 TMEM94 Synonymous SNV P223P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 286004 chr1 240458137 240458137 A G FMN2 Nonsynonymous SNV D697G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 286005 chr1 242121803 242121803 G T rs534083330 BECN2 Synonymous SNV R245R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.552 286006 chr3 51399303 51399303 A T rs142515812 DOCK3 Nonsynonymous SNV M1674L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.03 286007 chr17 7536649 7536649 T C rs778383051 SHBG Synonymous SNV N281N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.415 286008 chr3 51897190 51897190 A G rs372504942 IQCF2 Nonsynonymous SNV E100G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 286009 chr3 52562895 52562895 G A rs755235188 NT5DC2 Synonymous SNV L158L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 286010 chr6 144181574 144181574 A G rs753891383 LTV1 Synonymous SNV Q90Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.155 286011 chr11 118984984 118984984 G A rs149487752 C2CD2L Synonymous SNV S606S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 286012 chr17 77080696 77080696 G A rs201792800 ENGASE Nonsynonymous SNV V507I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 286013 chr11 119210472 119210472 G A C1QTNF5 Nonsynonymous SNV P101S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 286014 chr11 120291479 120291479 G A rs34754222 ARHGEF12 Nonsynonymous SNV V54I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 286015 chr2 203383698 203383698 C T rs760996563 BMPR2 Nonsynonymous SNV R259C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 286016 chr17 79080634 79080634 G A rs922220997 BAIAP2 Nonsynonymous SNV R476Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 286017 chr2 231140 231140 C T rs768720234 SH3YL1 Synonymous SNV P195P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 286018 chr3 97594949 97594949 A G CRYBG3 Nonsynonymous SNV I1637M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.749 286019 chr17 7976231 7976231 T C ALOX12B Nonsynonymous SNV E655G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 286020 chr3 98109813 98109813 T C rs145714597 OR5K3 Nonsynonymous SNV Y102H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.5 286021 chr3 100455433 100455433 T G rs12562 TFG Synonymous SNV A198A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.94 286022 chr2 212570071 212570071 G A rs55923663 ERBB4 Synonymous SNV N390N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.92 286023 chr6 160958987 160958987 G A rs367594522 LPA Synonymous SNV A1914A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 286024 chr6 16254832 16254832 G A GMPR Nonsynonymous SNV E111K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 286025 chr6 16327615 16327615 A C rs179990 ATXN1 Synonymous SNV A309A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.001 286026 chr2 219679301 219679301 C T rs143002163 CYP27A1 Nonsynonymous SNV R433W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 286027 chr3 113656962 113656962 G A rs79673945 GRAMD1C Nonsynonymous SNV V350I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 286028 chr3 113753949 113753949 C A rs140467596 CCDC191 Nonsynonymous SNV R192I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 286029 chr6 170013700 170013700 G A rs200858198 WDR27 Nonsynonymous SNV T568M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 286030 chr2 220313767 220313767 G A rs367886901 SPEG Synonymous SNV R629R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.668 286031 chr3 114018467 114018467 C T rs375103800 TIGIT Stop gain Q139X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 286032 chr2 220420765 220420765 G A OBSL1 Nonsynonymous SNV T1529I 0 0.003 0 0 0 1 0 0 0 0 0 0 25 286033 chr2 220424077 220424077 G A rs774993148 OBSL1 Synonymous SNV S1032S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 286034 chr2 29293874 29293874 G A rs202213660 PCARE Nonsynonymous SNV S1085L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.67 286035 chr2 224862964 224862964 C T rs776620099 SERPINE2 Nonsynonymous SNV A119T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 286036 chr3 121648175 121648175 C T rs76469580 SLC15A2 Synonymous SNV T480T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.6 286037 chr3 122133975 122133975 T C WDR5B Nonsynonymous SNV N134S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 286038 chr2 227872190 227872190 G A rs200450557 COL4A4 Nonsynonymous SNV H1642Y 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 24.4 286039 chr3 122642526 122642526 G A rs771110590 SEMA5B Nonsynonymous SNV R346C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 286040 chr2 37235893 37235893 G A rs183673204 HEATR5B Synonymous SNV I1461I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.73 286041 chr2 37255917 37255917 G A rs199812373 HEATR5B Nonsynonymous SNV H1170Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27 286042 chr2 231368994 231368994 G A rs770957115 SP100 Nonsynonymous SNV R620Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 286043 chr2 54122772 54122772 C G rs768030487 PSME4 Nonsynonymous SNV E1264Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 286044 chr2 65243740 65243740 A G rs375433262 SLC1A4 Nonsynonymous SNV K103E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 286045 chr18 76753765 76753765 C T rs369000324 SALL3 Nonsynonymous SNV P592S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 286046 chr2 1271336 1271336 G A rs372191385 SNTG2 Nonsynonymous SNV R426K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 286047 chr2 8998948 8998948 T C rs759562992 MBOAT2 Nonsynonymous SNV H342R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 286048 chr3 9970134 9970134 G T IL17RC Synonymous SNV L301L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 286049 chr19 1054315 1054315 G A rs374221840 ABCA7 Nonsynonymous SNV R1234H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 286050 chr19 11727866 11727866 G A rs200860012 ZNF627 Nonsynonymous SNV R73Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 286051 chr3 14163417 14163417 C A rs116088871 CHCHD4 Nonsynonymous SNV G21W 0 0.003 0 0 0 1 0 0 0 0 0 0 25 286052 chr19 12383467 12383467 T G ZNF44 Nonsynonymous SNV K503Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 286053 chr3 14190332 14190332 T G rs189619298 XPC Synonymous SNV P551P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.054 286054 chr2 25016350 25016350 G C rs201704717 CENPO Nonsynonymous SNV G3A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.33 286055 chr2 113514048 113514048 G T rs761833875 CKAP2L Synonymous SNV I135I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.368 286056 chr2 27656200 27656200 C T NRBP1 Synonymous SNV S20S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 286057 chr19 15272139 15272139 C T rs183839795 NOTCH3 Synonymous SNV S2100S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.77 286058 chr3 195517678 195517678 A T rs376798644 MUC4 Nonsynonymous SNV M258K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 286059 chr3 38743332 38743332 G A rs756133876 SCN10A Nonsynonymous SNV A1454V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 0.014 286060 chr20 35242356 35242356 C T SLA2 Synonymous SNV E233E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.46 286061 chr4 2951845 2951845 G A NOP14 Synonymous SNV G366G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.474 286062 chr2 152467336 152467336 G A rs777244382 NEB Synonymous SNV H3707H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.31 286063 chr3 46415394 46415394 G A rs764318467 CCR5 Nonsynonymous SNV R334Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 286064 chr4 4864519 4864519 G A rs149960650 MSX1 Synonymous SNV L187L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.124 286065 chr3 48602368 48602368 G A rs756244275 COL7A1 Nonsynonymous SNV T2889I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 286066 chr7 100465808 100465808 G A rs766152207 TRIP6 Nonsynonymous SNV E106K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 286067 chr4 6864450 6864450 G C KIAA0232 Nonsynonymous SNV V781L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.91 286068 chr19 2223378 2223378 C G rs200817476 DOT1L Synonymous SNV P1163P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 286069 chr3 52383424 52383424 G A DNAH1 Synonymous SNV K838K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 286070 chr4 9943583 9943583 T G rs753014108 SLC2A9 Synonymous SNV P256P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.094 286071 chr20 57766294 57766294 C G rs558289892 ZNF831 Nonsynonymous SNV R74G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 286072 chr2 71896834 71896834 C T rs769289729 DYSF Synonymous SNV F1861F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.21 286073 chr2 73302656 73302656 G C rs201350069 RAB11FIP5 Nonsynonymous SNV P652R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 286074 chr3 56661085 56661085 C T rs201501425 TASOR Synonymous SNV K936K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.82 286075 chr3 57326043 57326043 C T rs1033380158 ASB14 Nonsynonymous SNV D7N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.52 286076 chr2 74460661 74460661 C T rs781122590 SLC4A5 Synonymous SNV V821V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 286077 chr4 36069686 36069686 C T rs928557709 ARAP2 Nonsynonymous SNV G1653D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.041 286078 chr3 62189571 62189571 T C PTPRG Nonsynonymous SNV M701T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 286079 chr20 62172803 62172803 G A rs150644078 SRMS Nonsynonymous SNV R373W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 286080 chr3 98110401 98110401 A G rs766934478 OR5K3 Nonsynonymous SNV I298V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 286081 chr7 100855632 100855632 G A rs769694502 PLOD3 Synonymous SNV I343I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 286082 chr19 37240401 37240401 A G ZNF850 Nonsynonymous SNV F482S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 286083 chr4 71472180 71472180 T C rs755715582 AMBN Synonymous SNV D359D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 286084 chr4 73414418 73414418 C A ADAMTS3 Nonsynonymous SNV R94L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 286085 chr11 6129611 6129611 C T rs151312505 OR56B4 Synonymous SNV N201N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.243 286086 chr4 77662180 77662180 G A SHROOM3 Nonsynonymous SNV V952M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.864 286087 chr19 42125985 42125985 G T CEACAM4 Nonsynonymous SNV P243T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.389 286088 chr3 132358452 132358452 G A rs764113875 ACAD11 Nonsynonymous SNV P196S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 286089 chr4 135121668 135121668 A G rs773209822 PABPC4L Synonymous SNV V169V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.656 286090 chr11 724758 724758 G C rs369088154 EPS8L2 Nonsynonymous SNV V497L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 286091 chr4 152021686 152021686 A G RPS3A Nonsynonymous SNV M38V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.54 286092 chr2 179558690 179558690 A G rs769226745 TTN Nonsynonymous SNV M9247T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.17 286093 chr2 237406078 237406078 C T rs200469019 IQCA1 Nonsynonymous SNV D22N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 286094 chr19 51321961 51321961 G A rs3212840 LINC01869 0 0 0.007 0 0 0 0 2 0 0 1 0 8.493 286095 chr22 36537549 36537549 G A APOL3 Nonsynonymous SNV A303V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.66 286096 chr3 186274530 186274530 T C rs776978034 TBCCD1 Nonsynonymous SNV Y80C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 286097 chr4 184629586 184629586 G A rs148114592 TRAPPC11 Synonymous SNV T1072T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.05 286098 chr2 202978069 202978069 C T rs778844674 KIAA2012 Synonymous SNV S554S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.32 286099 chr22 39711292 39711293 TG - rs746012791 SNORD83A 0 0 0 2 0 0 0.005 0 0 0 0 0 286100 chr7 42065995 42065995 T C GLI3 Nonsynonymous SNV T349A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.092 286101 chr5 171453 171453 C A PLEKHG4B Nonsynonymous SNV A1315D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.32 286102 chr22 41513366 41513366 C T rs367583060 EP300 Synonymous SNV S90S 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 12.86 286103 chr5 181744 181744 T C rs116033653 PLEKHG4B Synonymous SNV C1506C 0 0.005 0 0 0 2 0 0 0 0 0 0 Benign 0.016 286104 chr5 195195 195195 G A rs115709207 LRRC14B Synonymous SNV P424P 0 0.005 0 0 0 2 0 0 0 0 0 0 1.951 286105 chr3 195595153 195595153 C T rs201682144 TNK2 Synonymous SNV A689A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.172 286106 chr7 44269087 44269087 G A rs375664947 CAMK2B Synonymous SNV P413P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 286107 chr4 437637 437637 T C rs781885961 ZNF721 Nonsynonymous SNV N207D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.174 286108 chr5 21752211 21752211 C G CDH12 Nonsynonymous SNV D450H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 286109 chr4 2240484 2240484 C T rs150198664 HAUS3 Nonsynonymous SNV R399Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 286110 chr3 32859783 32859783 G C rs926880804 TRIM71 Nonsynonymous SNV E71Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 286111 chr19 56126503 56126511 GCGGCGGCC - ZNF865 A510_A512del 0 0 0.003 0 0 0 0 1 0 0 0 0 286112 chr7 6732199 6732199 G A ZNF12 Nonsynonymous SNV T125M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.129 286113 chr5 61653971 61653971 A G rs754709514 KIF2A Synonymous SNV Q239Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.699 286114 chr5 61874619 61874619 T G rs560337723 IPO11-LRRC70 0 0.003 0 0 0 1 0 0 0 0 0 0 2.375 286115 chr2 232321731 232321731 G T rs775383737 NCL Nonsynonymous SNV Q518K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 286116 chr2 232457693 232457693 G C rs16828251 TEX44 Nonsynonymous SNV V11L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.866 286117 chr2 232457898 232457898 A G rs16828254 TEX44 Nonsynonymous SNV Q79R 0.001 0 0 0 1 0 0 0 0 0 0 0 21 286118 chr4 10099383 10099383 G A rs761011483 WDR1 Synonymous SNV C170C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.077 286119 chr2 233759486 233759486 G A rs545434272 NGEF Synonymous SNV D231D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 286120 chrX 63412789 63412789 T C AMER1 Synonymous SNV Q126Q 0 0 0 2 0 0 0.005 0 0 0 0 1 0.002 286121 chr12 121176440 121176440 C T rs150980955 ACADS Synonymous SNV F300F 0.003 0 0 0 4 0 0 0 0 0 0 0 16.17 286122 chr4 24810093 24810093 C T rs189457604 CCDC149 Nonsynonymous SNV R503Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.322 286123 chr2 238277258 238277258 G A rs200948078 COL6A3 Synonymous SNV S1009S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.887 286124 chrX 111090362 111090362 T C rs750051970 TRPC5 Synonymous SNV K560K 0 0 0 2 0 0 0.005 0 0 0 0 1 0.039 286125 chr12 124383357 124383357 - GTAGGTGAGTGAGGGCGGGGCCAGGGCAGCCCATCCCCAACACCCAATACCCACC DNAH10 Stop gain A3096Gfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 286126 chrX 129801685 129801685 G T rs756702507 ENOX2 Synonymous SNV T242T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.712 286127 chr7 98513426 98513426 A G rs781817583 TRRAP Synonymous SNV L760L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.585 286128 chrX 135633045 135633045 G A rs73558572 MIR934 0 0 0 2 0 0 0.005 0 0 0 0 1 1.961 286129 chrX 135814308 135814308 C T rs75329154 ARHGEF6 Nonsynonymous SNV V75I 0 0 0 2 0 0 0.005 0 0 0 0 1 Likely benign 9.946 286130 chr13 25448252 25448252 A G RNF17 Nonsynonymous SNV E1479G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 286131 chr3 50212558 50212572 CAGAGGCCGCGGCAG - SEMA3F G164_R168del 0.001 0 0 0 1 0 0 0 0 0 0 0 286132 chr3 51430269 51430269 G C rs782608053 RBM15B Nonsynonymous SNV G480A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 286133 chr3 52414027 52414027 G A rs183867998 DNAH1 Nonsynonymous SNV R2495H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 286134 chr5 93294500 93294500 A G FAM172A Synonymous SNV F137F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.509 286135 chr5 96103656 96103656 C T rs776467210 CAST Synonymous SNV L604L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 286136 chr8 10467605 10467605 C T rs61503212 RP1L1 Nonsynonymous SNV G1335R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.3 286137 chr5 96103664 96103664 C A rs752570089 CAST Nonsynonymous SNV S606R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 286138 chr3 53531282 53531282 C G CACNA1D Nonsynonymous SNV I57M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 286139 chr5 120021991 120021991 A C rs367677114 PRR16 Nonsynonymous SNV N168H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 286140 chr4 89013524 89013524 G A rs138892154 ABCG2 Nonsynonymous SNV A607V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.263 286141 chr8 130760826 130760826 G A GSDMC Nonsynonymous SNV T483I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 286142 chr4 89053048 89053048 T C ABCG2 Synonymous SNV A95A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.874 286143 chr5 138755877 138755877 G T rs376429883 DNAJC18 Nonsynonymous SNV L273M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 286144 chr8 134274379 134274379 G A rs199928197 NDRG1 Synonymous SNV Y13Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 286145 chr3 38051304 38051304 T G PLCD1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 286146 chr4 101344507 101344507 A G rs776187778 EMCN Nonsynonymous SNV I144T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 286147 chr5 141038995 141038995 T A ARAP3 Nonsynonymous SNV T1106S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 286148 chr4 111434635 111434635 A C rs751050014 ENPEP Nonsynonymous SNV H458P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 286149 chr3 122471514 122471514 A C HSPBAP1 Nonsynonymous SNV F250C 0.001 0 0 0 1 0 0 0 0 0 0 0 27 286150 chr8 144945947 144945947 C G EPPK1 Nonsynonymous SNV S492T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 286151 chr3 124492644 124492644 G A rs146672484 ITGB5 Synonymous SNV S450S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.3 286152 chr1 120341126 120341126 T G rs34996202 REG4 Nonsynonymous SNV N135H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.055 286153 chr1 120483244 120483244 C T rs36084504 NOTCH2 Synonymous SNV T1039T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.67 286154 chr8 145101786 145101786 G A rs782693564 SPATC1 Nonsynonymous SNV D569N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.4 286155 chr5 161113010 161113010 G T rs370922712 GABRA6 Synonymous SNV L5L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 6.865 286156 chr1 145598285 145598285 A G rs144101553 POLR3C Nonsynonymous SNV V336A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 286157 chr1 146651140 146651140 A C rs74123522 PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.541 286158 chr3 50339567 50339567 A G HYAL1 Nonsynonymous SNV V274A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 286159 chr1 150532586 150532586 C A rs113799188 ADAMTSL4 Synonymous SNV R1047R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.9 286160 chr1 151496009 151496009 A C rs145912252 CGN Nonsynonymous SNV K414Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 286161 chr1 151787884 151787884 T G RORC Nonsynonymous SNV M85L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 286162 chr4 167020484 167020484 T C rs371310405 TLL1 Synonymous SNV A904A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 286163 chr5 176895199 176895199 C T DBN1 Synonymous SNV S55S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.18 286164 chr1 153905483 153905483 C T DENND4B Synonymous SNV L1170L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 286165 chr12 57431654 57431654 G A rs200268795 MYO1A Nonsynonymous SNV R654W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 286166 chr12 57587773 57587773 C T rs149099223 LRP1 Synonymous SNV D2632D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 286167 chr4 178352938 178352938 G A rs56849061 AGA Nonsynonymous SNV T322I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 21.8 286168 chr12 5860057 5860057 T A rs71579301 ANO2 Nonsynonymous SNV I380F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 286169 chr4 187077248 187077248 G C rs769481879 FAM149A Nonsynonymous SNV D160H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 286170 chr12 6495561 6495561 C T rs140294576 LTBR Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.71 286171 chr8 25258536 25258536 G T DOCK5 Nonsynonymous SNV R1627L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 286172 chr1 157738482 157738482 A T rs16839100 FCRL2 Nonsynonymous SNV I202N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 286173 chr5 1878627 1878627 C T rs755017311 IRX4 Nonsynonymous SNV G339D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.934 286174 chr6 12120536 12120536 A G rs61738287 HIVEP1 Nonsynonymous SNV S170G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.473 286175 chr6 12121113 12121113 C T rs34221818 HIVEP1 Nonsynonymous SNV P362L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.67 286176 chr1 158618320 158618320 G A rs34773716 SPTA1 Synonymous SNV D1231D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.954 286177 chr1 41012243 41012245 ACC - rs572963041 ZNF684 Y83_P84delinsS 0 0 0 2 0 0 0.005 0 0 0 0 0 286178 chr5 11385074 11385074 C T CTNND2 Nonsynonymous SNV A203T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.37 286179 chr1 158747142 158747142 G A OR6N2 Nonsynonymous SNV A95V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 286180 chr5 13788935 13788935 G A rs200457834 DNAH5 Nonsynonymous SNV A2846V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 286181 chr6 27860926 27860926 A G H2AC17 Star tloss M1T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 286182 chr1 161719664 161719664 G C DUSP12 Nonsynonymous SNV G25R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.667 286183 chr6 36454727 36454727 T G rs781027322 KCTD20 Stop gain Y179X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 286184 chr6 38994329 38994329 C G rs45600141 DNAH8 Synonymous SNV L4357L 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 9.122 286185 chr6 39824160 39824160 C T rs745986379 DAAM2 Nonsynonymous SNV R28W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 286186 chr5 58334802 58334802 C A PDE4D Nonsynonymous SNV A45S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 286187 chr1 17634740 17634740 G A rs35381732 PADI4 Nonsynonymous SNV R8H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.374 286188 chr3 132242480 132242480 G A rs10935014 DNAJC13 Nonsynonymous SNV V1995I 0.002 0 0 0 2 0 0 0 0 0 0 0 23 286189 chr3 138183317 138183317 T C rs781712186 ESYT3 Nonsynonymous SNV I349T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 286190 chr3 141535569 141535569 G A GRK7 Nonsynonymous SNV D447N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 286191 chr3 145788614 145788614 G C PLOD2 Nonsynonymous SNV P702A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 286192 chr1 186114963 186114963 G A rs777456781 HMCN1 Nonsynonymous SNV R4839Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 286193 chr1 186278139 186278139 T C rs759771549 PRG4 Synonymous SNV D962D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 286194 chr1 186948551 186948551 G A rs1042568532 PLA2G4A Nonsynonymous SNV A629T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 286195 chr5 82837381 82837381 C T rs144173960 VCAN Synonymous SNV D1866D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 286196 chr4 37448153 37448153 C T rs369091883 NWD2 Nonsynonymous SNV R1515W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 286197 chr3 164906031 164906031 T C rs140892840 SLITRK3 Nonsynonymous SNV H863R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 286198 chr5 101593727 101593727 G T rs374994606 SLCO4C1 Nonsynonymous SNV T398N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 286199 chr9 126783379 126783379 G T rs758826943 LHX2 Synonymous SNV A243A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 286200 chr5 115318996 115318996 G A rs115691811 LVRN Synonymous SNV A236A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 286201 chr6 100957398 100957398 G A ASCC3 Nonsynonymous SNV T2158I 0 0.003 0 0 0 1 0 0 0 0 0 0 32 286202 chr1 207196312 207196312 G C rs141962471 C1orf116 Nonsynonymous SNV P20R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 286203 chr13 97484922 97484922 C T rs150881911 HS6ST3 Nonsynonymous SNV R296W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 286204 chr6 117589634 117589634 G C VGLL2 Nonsynonymous SNV R124T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.41 286205 chr14 100743760 100743760 G C rs146809790 YY1 Synonymous SNV T356T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.239 286206 chr14 100793540 100793540 C T rs765646850 SLC25A47 Nonsynonymous SNV R54W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 286207 chr14 100793585 100793585 G A rs149858549 SLC25A47 Nonsynonymous SNV V69M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 286208 chr14 101005068 101005068 G A rs551646369 BEGAIN Synonymous SNV A340A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.057 286209 chr14 104173504 104173504 C T XRCC3 Nonsynonymous SNV R81H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 286210 chr6 137476133 137476133 C T rs140915731 IL22RA2 Synonymous SNV S107S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.38 286211 chr4 961516 961516 C T rs372309550 DGKQ Nonsynonymous SNV G296R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 286212 chr4 1019054 1019054 - CACA rs747154781 FGFRL1 Frameshift insertion S486Tfs*67 0.003 0 0 0 3 0 0 0 0 0 0 0 286213 chr1 225195248 225195248 T C rs528341779 DNAH14 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 286214 chr6 151936698 151936698 A G CCDC170 Nonsynonymous SNV T611A 0 0.005 0 0 0 2 0 0 0 0 0 0 5.978 286215 chr5 147861125 147861125 T C rs186845398 HTR4 Nonsynonymous SNV M382V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.503 286216 chr4 2460577 2460577 G T CFAP99 Nonsynonymous SNV G430V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.062 286217 chr5 149740732 149740732 C T rs56180593 TCOF1 Nonsynonymous SNV A41V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign/Likely benign 23 286218 chr9 140127062 140127062 G A rs570528948 SLC34A3 Nonsynonymous SNV G71S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 286219 chr1 22920169 22920169 C T rs758976345 EPHA8 Synonymous SNV T531T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 286220 chr6 161990401 161990401 G A rs138920699 PRKN Synonymous SNV L158L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.35 286221 chr5 156566400 156566400 T C rs371874977 MED7 Nonsynonymous SNV M15V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.323 286222 chr1 236749627 236749627 G A rs141140258 HEATR1 Nonsynonymous SNV T614M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.448 286223 chr6 168708460 168708460 G A rs746643321 DACT2 Synonymous SNV S489S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.518 286224 chr14 24723871 24723871 G A rs574941195 TGM1 Nonsynonymous SNV T696M 0.002 0 0 2 2 0 0.005 0 0 0 0 0 24.3 286225 chr4 129083357 129083357 T A rs772870962 LARP1B Synonymous SNV V270V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 286226 chr5 169267840 169267840 G A rs754028409 DOCK2 Nonsynonymous SNV R928Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 286227 chr7 2580668 2580668 G A rs368808380 BRAT1 Nonsynonymous SNV T272M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.24 286228 chr4 141543475 141543475 G A TBC1D9 Synonymous SNV A1225A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.629 286229 chr9 35095111 35095111 C G PIGO Nonsynonymous SNV S151T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.7 286230 chr1 247695729 247695729 A C rs149639992 OR2C3 Nonsynonymous SNV F29V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 286231 chr14 38725075 38725075 C T rs552707013 CLEC14A Synonymous SNV E51E 0.002 0 0 0 2 0 0 0 0 0 0 0 19.86 286232 chr1 247836073 247836075 ATG - rs775910493 OR13G1 S90del 0 0 0.003 0 0 0 0 1 0 0 0 0 286233 chr1 248512911 248512911 A G OR14C36 Nonsynonymous SNV M279V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 286234 chr4 169183878 169183878 A G DDX60 Nonsynonymous SNV Y1034H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 286235 chr14 57082668 57082668 A G rs148570600 TMEM260 Synonymous SNV Q288Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.173 286236 chr14 58605935 58605935 C T rs769362182 ARMH4 Nonsynonymous SNV D48N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 286237 chr6 5086577 5086577 A G PPP1R3G Synonymous SNV P286P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 286238 chr4 183710283 183710283 G A rs370222660 TENM3 Nonsynonymous SNV R1781Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 286239 chr6 7727845 7727845 G A rs368124008 BMP6 Synonymous SNV V219V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.613 286240 chr6 13612049 13612049 G A rs201653165 SIRT5 Synonymous SNV T277T 0 0.005 0 0 0 2 0 0 0 1 0 0 11.56 286241 chr6 24563665 24563665 A C rs747621869 KIAA0319 Nonsynonymous SNV V249G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 286242 chr7 44259682 44259682 C T rs756806590 CAMK2B Synonymous SNV A443A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.27 286243 chr1 36291342 36291342 G A AGO4 Nonsynonymous SNV G184E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 286244 chrX 105970157 105970157 C T rs371528767 RNF128 Nonsynonymous SNV P5L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 286245 chr16 15812253 15812253 G A MYH11 Synonymous SNV I1738I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.75 286246 chr1 40030880 40030880 C G PABPC4 Nonsynonymous SNV Q381H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 286247 chr16 18840789 18840789 G A rs200470223 SMG1 Nonsynonymous SNV A3141V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 286248 chr6 33543693 33543693 G A rs4987115 BAK1 Nonsynonymous SNV A28V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.32 286249 chr1 41456885 41456885 C T CTPS1 Nonsynonymous SNV R46W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 286250 chr5 16463682 16463682 C G rs750164235 ZNF622 Nonsynonymous SNV M265I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 286251 chr6 38702357 38702357 C T rs145773185 DNAH8 Nonsynonymous SNV R23C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 286252 chr7 64864768 64864768 A G rs145183979 ZNF92 Nonsynonymous SNV K505E 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 10.68 286253 chr1 46736369 46736369 A G rs769125029 RAD54L Nonsynonymous SNV I181V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 286254 chr16 30005380 30005380 T A HIRIP3 Nonsynonymous SNV E362D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.761 286255 chr16 30536804 30536804 G A ZNF768 Synonymous SNV P219P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 286256 chr16 31153920 31153920 C T rs201556735 PRSS36 Nonsynonymous SNV G468D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.953 286257 chr16 31408988 31408991 GTGA - ITGAD 0.001 0 0 0 1 0 0 0 0 0 0 0 286258 chr7 92462614 92462614 G C CDK6 Synonymous SNV R8R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.33 286259 chr5 68669761 68669761 A G rs776648705 RAD17 Synonymous SNV R49R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 286260 chr7 99123619 99123619 G T rs751449914 ZKSCAN5 Nonsynonymous SNV R246M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 286261 chr7 99221781 99221781 G A rs192539801 ZSCAN25 Synonymous SNV P261P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.228 286262 chrX 48369873 48369873 G A rs781869078 PORCN Nonsynonymous SNV M109I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.92 286263 chrX 49143034 49143034 G A PPP1R3F Nonsynonymous SNV G282S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.819 286264 chrX 53619418 53619418 T C rs145051649 HUWE1 Synonymous SNV T1304T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.256 286265 chr10 100157131 100157131 A G rs145733762 PYROXD2 Nonsynonymous SNV L199P 0 0 0 2 0 0 0.005 0 0 0 0 0 22.7 286266 chr1 89273094 89273094 A C PKN2 Nonsynonymous SNV E586D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.113 286267 chr5 79616146 79616146 G A rs199787885 SPZ1 Nonsynonymous SNV E38K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 286268 chr10 103826495 103826495 A T HPS6 Nonsynonymous SNV T422S 0 0 0 2 0 0 0.005 0 0 0 0 0 22.4 286269 chr4 189026486 189026486 T A rs769905335 TRIML2 Nonsynonymous SNV I13F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.812 286270 chr1 94505603 94505603 C T rs368951547 ABCA4 Synonymous SNV L1201L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 286271 chr1 95322947 95322947 C T rs142721068 SLC44A3 Nonsynonymous SNV R341W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 286272 chr7 103206817 103206817 C A RELN Nonsynonymous SNV G1597V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 286273 chr20 1285817 1285817 G A rs753064810 SNPH Nonsynonymous SNV G202S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 286274 chr5 112175503 112175503 C T rs144655979 APC Synonymous SNV S1386S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.93 286275 chr5 32089583 32089583 A G rs1057443565 PDZD2 Nonsynonymous SNV D2010G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.346 286276 chr6 127836962 127836962 C T rs117155765 SOGA3 Synonymous SNV K266K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 286277 chr6 129704288 129704288 G A LAMA2 Nonsynonymous SNV G1661S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 286278 chr10 119044547 119044547 G A rs34323464 PDZD8 Nonsynonymous SNV P566L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.55 286279 chr20 18123345 18123345 A T rs377600919 KAT14 Nonsynonymous SNV H14L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 286280 chr10 12111040 12111040 C G rs765392621 DHTKD1 Nonsynonymous SNV S3C 0 0 0 2 0 0 0.005 0 0 0 0 0 9.018 286281 chr7 122635688 122635690 TTC - rs776945044 TAS2R16 Star tloss M1? 0.003 0.003 0 0 3 1 0 0 0 0 0 0 286282 chr5 121412600 121412600 T C LOX Nonsynonymous SNV N13S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 286283 chr20 2463852 2463852 G A rs6049412 ZNF343 Synonymous SNV G495G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.811 286284 chr20 2463860 2463860 C T rs556099913 ZNF343 Nonsynonymous SNV G493R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 286285 chr20 2463870 2463870 A G rs539064280 ZNF343 Synonymous SNV C489C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.74 286286 chr20 2463873 2463873 A G rs559067273 ZNF343 Synonymous SNV V488V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.093 286287 chr20 25057084 25057084 C T VSX1 Nonsynonymous SNV S304N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.021 286288 chr20 33114135 33114135 C T DYNLRB1 Synonymous SNV V22V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.08 286289 chr6 159457367 159457367 T C rs553216931 TAGAP Nonsynonymous SNV N500S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 286290 chr15 85341611 85341611 A G rs1052004781 ZNF592 Nonsynonymous SNV Y881C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 286291 chr5 148618812 148618812 C T rs182108335 ABLIM3 Nonsynonymous SNV S349L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 286292 chr20 43583747 43583747 A G rs143621246 TOMM34 Synonymous SNV I114I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 286293 chr7 150439588 150439588 G A rs758470990 GIMAP1-GIMAP5, GIMAP5 Nonsynonymous SNV G121R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 286294 chr6 161152107 161152107 G A rs149909079 PLG Synonymous SNV R427R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 10.69 286295 chr5 150947407 150947407 G C rs200331562 FAT2 Nonsynonymous SNV F362L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 286296 chr7 158824645 158824645 C T rs147214125 VIPR2 Nonsynonymous SNV C346Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24 286297 chr5 160034021 160034021 G A rs199918142 ATP10B Nonsynonymous SNV R971C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 286298 chr7 1539133 1539133 G A rs756730020 INTS1 Nonsynonymous SNV R274C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 286299 chr8 2072059 2072059 T C rs141646411 MYOM2 Synonymous SNV D1221D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 286300 chr5 168216611 168216611 C T rs141968815 SLIT3 Nonsynonymous SNV D345N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 286301 chr8 8235357 8235357 C T rs752793188 PRAG1 Nonsynonymous SNV V188M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.51 286302 chr16 11829887 11829887 G A rs369252028 TXNDC11 Nonsynonymous SNV R153W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 286303 chr5 123985341 123985341 G A rs144612616 ZNF608 Synonymous SNV T404T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 11.34 286304 chr7 22194211 22194211 C A rs201437488 RAPGEF5 Nonsynonymous SNV V247L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 286305 chr8 22475252 22475252 A G CCAR2 Synonymous SNV S677S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 286306 chr8 24178739 24178739 G T rs142436579 ADAM28 Nonsynonymous SNV R219S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 286307 chr7 31690758 31690758 C T ITPRID1 Synonymous SNV C862C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.88 286308 chr7 35707153 35707153 T C rs770403909 HERPUD2 Nonsynonymous SNV T129A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.086 286309 chr17 35300417 35300417 G T rs750024218 LHX1 Nonsynonymous SNV A404S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 286310 chr7 42005433 42005433 T C GLI3 Nonsynonymous SNV M1080V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.659 286311 chr8 37693270 37693270 G A rs765333292 ADGRA2 Nonsynonymous SNV V678I 0 0.003 0 0 0 1 0 0 0 0 0 0 33 286312 chr21 40800336 40800336 T C rs142714945 LCA5L Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.909 286313 chr8 59750837 59750837 T C rs150605902 TOX Nonsynonymous SNV M243V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.135 286314 chr7 50057888 50057888 C A rs760353111 ZPBP Nonsynonymous SNV G243V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.3 286315 chr16 4642344 4642344 G A rs575417646 C16orf96 Nonsynonymous SNV R917Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 286316 chr8 95802020 95802020 G A rs149041883 DPY19L4 Nonsynonymous SNV R685Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 286317 chr7 75615084 75615084 C T rs782248163 POR Nonsynonymous SNV T529M 0 0.003 0 0 0 1 0 0 0 0 0 0 27 286318 chr7 75959029 75959029 G A rs78824969 YWHAG Synonymous SNV D203D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.306 286319 chr10 96802704 96802704 G A rs369479818 CYP2C8 Synonymous SNV T262T 0 0 0 2 0 0 0.005 0 0 0 0 0 5.622 286320 chr6 40999787 40999787 G A rs369228384 UNC5CL Nonsynonymous SNV R347W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 286321 chr10 98155677 98155677 C T rs140598941 TLL2 Synonymous SNV T495T 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 14.95 286322 chr7 87069080 87069080 C T ABCB4 Nonsynonymous SNV R545H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 286323 chr8 120859293 120859295 TTT - DSCC1 Q171_I172delinsL 0 0.003 0 0 0 1 0 0 0 0 0 0 286324 chr8 120859296 120859296 G A DSCC1 Stop gain Q171X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 286325 chr6 42036234 42036234 C G TAF8 Stop gain Y223X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 286326 chr6 42934036 42934036 G A rs372593973 PEX6 Synonymous SNV T748T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.864 286327 chr2 136670121 136670121 A G rs776398671 DARS1 Nonsynonymous SNV Y289H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 286328 chr2 149853792 149853792 G A KIF5C Nonsynonymous SNV V680I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 286329 chr7 99526705 99526705 C T GJC3 Nonsynonymous SNV C180Y 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 286330 chr17 45916809 45916809 C G rs138533795 SCRN2 0.001 0 0 0 1 0 0 0 0 0 0 0 26 286331 chr8 141554345 141554345 G C rs148575703 AGO2 Synonymous SNV P602P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 286332 chr7 100028785 100028785 G A rs146630304 MEPCE Nonsynonymous SNV G382S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 286333 chr7 100086476 100086476 C T rs139880279 NYAP1 Nonsynonymous SNV R378W 0 0.003 0 0 0 1 0 0 0 0 0 0 26 286334 chr22 31487281 31487281 G T rs970719377 SMTN Nonsynonymous SNV R480S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 286335 chr22 31487301 31487301 G A SMTN Nonsynonymous SNV G487E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 286336 chr8 144462855 144462855 C T rs562688370 RHPN1 Nonsynonymous SNV A438V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.825 286337 chr17 48264089 48264089 G A COL1A1 Synonymous SNV I1242I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.6 286338 chr8 144941224 144941224 T C EPPK1 Synonymous SNV R2066R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 286339 chr8 145158052 145158052 G A rs1012913104 SHARPIN Nonsynonymous SNV P93L 0 0.003 0 0 0 1 0 0 0 0 0 0 25 286340 chr11 110128553 110128554 CT - RDX G77Nfs*2 0 0 0 3 0 0 0.008 0 0 0 0 0 286341 chr8 145641222 145641222 G A SLC39A4 Nonsynonymous SNV A124V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.217 286342 chr7 101892132 101892132 - CAG rs782730673 CUX1 S1459_A1460insS 0 0.003 0.003 0 0 1 0 1 0 0 0 0 286343 chr11 116692019 116692019 A G rs754363730 APOA4 Nonsynonymous SNV L252P 0 0 0 2 0 0 0.005 0 0 0 0 0 27 286344 chr11 117161673 117161673 T C rs776591080 BACE1 Synonymous SNV S245S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 6.962 286345 chr22 46509538 46509538 C - rs542386972 MIRLET7BHG 0 0 0.003 0 0 0 0 1 0 0 0 0 286346 chr6 111585092 111585092 A G rs145184768 MFSD4B Nonsynonymous SNV I86V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 286347 chr6 116288754 116288754 C T rs865935963 FRK Stop gain W253X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 286348 chr10 123971092 123971092 C G rs375253951 TACC2 Synonymous SNV S462S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.96 286349 chr22 48021282 48021282 T G rs575087175 LINC00898 0 0 0.003 0 0 0 0 1 0 0 0 0 5.621 286350 chr10 126370738 126370738 C T FAM53B Nonsynonymous SNV R115H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 286351 chr10 133930659 133930659 C G JAKMIP3 Nonsynonymous SNV L72V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 286352 chr6 138640946 138640946 C T rs753587155 ARFGEF3 Synonymous SNV A1527A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 286353 chr6 41774539 41774539 C T rs149616993 USP49 Synonymous SNV T61T 0.003 0 0 1 4 0 0.003 0 0 0 0 0 13.22 286354 chr7 139416381 139416381 T G HIPK2 Synonymous SNV P151P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.896 286355 chr2 102641109 102641109 G A rs374536258 IL1R2 Nonsynonymous SNV R289H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 286356 chr10 135122516 135122516 A T rs775486391 ZNF511 Synonymous SNV V23V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.321 286357 chr7 148895730 148895730 G T rs764066033 ZNF282 Synonymous SNV L157L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.204 286358 chr2 120005613 120005613 G A rs147820529 STEAP3 Nonsynonymous SNV R284H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.88 286359 chr10 27040654 27040654 A C rs901811694 ABI1 Nonsynonymous SNV D229E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.23 286360 chr7 155095575 155095575 G C INSIG1 Nonsynonymous SNV W130S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.404 286361 chr17 27086025 27086025 G C FAM222B Nonsynonymous SNV P318A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 286362 chr9 107331734 107331734 G A rs75087819 OR13C8 Nonsynonymous SNV G96R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 286363 chr17 27935897 27935897 T C rs147149998 ANKRD13B Synonymous SNV S150S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.629 286364 chr17 2868777 2868777 G A LOC101927911 0.001 0 0 0 1 0 0 0 0 0 0 0 3.212 286365 chr9 109689498 109689498 C A rs376343711 ZNF462 Nonsynonymous SNV P1102Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 286366 chr7 158552234 158552234 G A rs61735910 ESYT2 Synonymous SNV N454N 0 0.003 0.007 0 0 1 0 2 0 0 0 0 12.76 286367 chr7 158555848 158555848 C T rs28539211 ESYT2 Synonymous SNV V370V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.419 286368 chr7 158590648 158590648 G A rs113877369 ESYT2 Synonymous SNV V164V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.1 286369 chr6 168708585 168708585 G A rs1028494879 DACT2 Nonsynonymous SNV R448W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 286370 chr2 162362079 162362079 G A rs533561169 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 286371 chr8 8185481 8185481 G A rs142121457 PRAG1 Synonymous SNV H937H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.232 286372 chr8 8749944 8749944 G T rs147391131 MFHAS1 Nonsynonymous SNV L209M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 286373 chr10 50732468 50732468 C T ERCC6 Synonymous SNV Q336Q 0.001 0.005 0 0 1 2 0 0 0 1 0 0 16.84 286374 chr17 36489272 36489272 C A rs921013738 GPR179 Nonsynonymous SNV K633N 0.001 0 0 0 1 0 0 0 0 0 0 0 21 286375 chr17 36623370 36623370 G A rs993057605 ARHGAP23 Synonymous SNV A482A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.43 286376 chr11 32953407 32953407 - G QSER1 Frameshift insertion A202Gfs*14 0 0 0 3 0 0 0.008 0 0 0 0 0 286377 chr9 127572241 127572241 C T rs201652676 OLFML2A Synonymous SNV P289P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.32 286378 chr9 130478427 130478427 G A rs45469104 TTC16 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 17.39 286379 chr9 130507334 130507334 A G rs2233509 SH2D3C Synonymous SNV L279L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.137 286380 chr8 24813094 24813094 G A rs371515323 NEFL Synonymous SNV L312L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 286381 chr10 81925955 81925955 T C ANXA11 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 286382 chr8 33406959 33406959 C T rs115346711 RNF122 Nonsynonymous SNV V108M 0 0.003 0 0 0 1 0 0 0 0 0 0 25 286383 chr10 82363416 82363416 G A rs776567930 SH2D4B Nonsynonymous SNV R193H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 286384 chr7 32909476 32909476 T C KBTBD2 Synonymous SNV E451E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 286385 chr9 138393724 138393724 G A rs772577776 MRPS2 Synonymous SNV K68K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 286386 chr18 30977166 30977166 G A CCDC178 Nonsynonymous SNV T22I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 286387 chr9 138716726 138716726 G A rs150218320 CAMSAP1 Synonymous SNV L408L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.637 286388 chr8 68087671 68087671 G A rs200546493 CSPP1 Nonsynonymous SNV V687I 0.001 0.005 0 0 1 2 0 0 0 1 0 0 Uncertain significance 13 286389 chr9 139301737 139301737 G A rs764207939 ENTR1 Synonymous SNV L154L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.542 286390 chr9 139642810 139642810 G A rs770170830 LOC100128593 0 0.003 0 0 0 1 0 0 0 0 0 0 1.522 286391 chr8 87242382 87242382 G C rs775516440 SLC7A13 Nonsynonymous SNV S42C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.876 286392 chr2 217234692 217234692 C A MARCHF4 Nonsynonymous SNV G98C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 286393 chr17 4453556 4453556 G A rs143228082 MYBBP1A Synonymous SNV A372A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.695 286394 chr8 97157563 97157563 G A GDF6 Nonsynonymous SNV A199V 0 0.003 0 0 0 1 0 0 0 0 0 0 22 286395 chr11 5246901 5246901 G T rs33935383 HBB Nonsynonymous SNV T124N 0 0 0 1 0 0 0.003 0 0 0 0 0 other 8.717 286396 chr2 219553458 219553458 G A rs141511662 STK36 Synonymous SNV L473L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.6 286397 chr2 219691802 219691802 G A rs747168458 PRKAG3 Synonymous SNV P339P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 286398 chr7 71868298 71868298 G A rs376303075 CALN1 Synonymous SNV D19D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.672 286399 chr8 110980575 110980575 C T rs201081474 KCNV1 Synonymous SNV S415S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 286400 chr8 120118226 120118226 C G rs762415988 COLEC10 Synonymous SNV G210G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 286401 chr8 123965886 123965886 A G rs548920321 ZHX2 Synonymous SNV A712A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.697 286402 chr17 4910796 4910796 C T rs571606260 KIF1C Nonsynonymous SNV R484W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 286403 chr7 4088992 4088992 C T rs746412270 SDK1 Nonsynonymous SNV P872L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 286404 chr7 4856920 4856920 C T RADIL Nonsynonymous SNV E560K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 286405 chr2 231134253 231134253 G A rs777890404 SP140 Nonsynonymous SNV S302N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.494 286406 chr7 92122437 92122437 G C PEX1 Nonsynonymous SNV R956G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 286407 chr17 59115330 59115330 C T BCAS3 Stop gain R615X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 286408 chr2 237412298 237412298 G A rs776907451 IQCA1 Nonsynonymous SNV P3L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.492 286409 chr8 142204195 142204195 G A rs767354051 DENND3 Nonsynonymous SNV A1234T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.957 286410 chr7 99129702 99129702 - TTAA rs777966300 ZKSCAN5 Frameshift insertion K712Nfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 286411 chr7 99129704 99129704 G T rs773945945 ZKSCAN5 Synonymous SNV L711L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.22 286412 chr17 64873610 64873610 C T rs780336605 CACNG5 Synonymous SNV L54L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 286413 chr10 49642967 49642967 G A rs142330800 MAPK8 Synonymous SNV S317S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.377 286414 chr17 7222374 7222374 G C NEURL4 Nonsynonymous SNV L1225V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 286415 chr17 72874519 72874519 G A FADS6 Nonsynonymous SNV R332C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 286416 chr17 72877230 72877230 C T rs202243706 FADS6 Nonsynonymous SNV A232T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 286417 chr9 215078 215078 T C DOCK8-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 0.663 286418 chr10 70742489 70742489 G A DDX21 Nonsynonymous SNV R690Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 286419 chr2 38298421 38298433 TCTGCCTGCACTC - rs72549380 CYP1B1 R355Hfs*69 0 0 0.003 0 0 0 0 1 0 0 0 0 286420 chr7 100806823 100806823 C G rs150854873 VGF Synonymous SNV G434G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.09 286421 chr7 100816605 100816605 A T NAT16 Nonsynonymous SNV L170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 286422 chr9 1057140 1057140 T C DMRT2 Nonsynonymous SNV I344T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 286423 chr9 2718883 2718883 A T rs757516625 KCNV2 Nonsynonymous SNV M382L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.17 286424 chr9 2729696 2729696 A G rs77811928 KCNV2 Nonsynonymous SNV N536S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.666 286425 chr2 46574026 46574026 G A rs73926269 EPAS1 Nonsynonymous SNV R14K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 286426 chr2 61575928 61575928 C A USP34 Nonsynonymous SNV R546I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 286427 chr11 62288740 62288740 G A rs369354247 AHNAK Synonymous SNV P4383P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.019 286428 chr11 63137887 63137887 G A rs371439633 SLC22A9 Stop gain W120X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 286429 chr11 63994231 63994231 G A rs144318476 NUDT22 Nonsynonymous SNV G36D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.42 286430 chr11 134123602 134123602 C G ACAD8 Nonsynonymous SNV D36E 0 0.003 0 0 0 1 0 0 0 0 0 0 19.31 286431 chr2 74653587 74653587 A G RTKN Nonsynonymous SNV L492P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 286432 chr11 64520630 64520630 T C rs758131128 PYGM Nonsynonymous SNV H390R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Uncertain significance 23.2 286433 chr2 86701930 86701930 G A rs781645903 KDM3A Nonsynonymous SNV V586I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 286434 chr7 141730471 141730471 A G rs76276410 MGAM Nonsynonymous SNV S462G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 1.35 286435 chr7 100192771 100192771 C T rs758758575 FBXO24 Synonymous SNV R321R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.66 286436 chr9 95033302 95033302 G A rs79939916 IARS1 Synonymous SNV A390A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.18 286437 chr11 22261149 22261149 C T rs745908606 ANO5 Nonsynonymous SNV P265L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.6 286438 chr9 98638242 98638242 T C rs141071823 LINC00476 0 0.003 0 0 0 1 0 0 0 0 0 0 3.955 286439 chr9 101751510 101751510 C G rs141627451 COL15A1 Nonsynonymous SNV I258M 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 286440 chr9 101830933 101830933 A C rs115872058 COL15A1 Nonsynonymous SNV I1312L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.89 286441 chr18 2566919 2566919 A G rs769794277 METTL4 Synonymous SNV Y99Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.725 286442 chr3 113623035 113623035 A G rs774123805 GRAMD1C Synonymous SNV K30K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.054 286443 chr18 30349988 30349988 C T rs747698949 KLHL14 Synonymous SNV V189V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 286444 chr10 120354185 120354185 G A rs768116845 PRLHR Nonsynonymous SNV A191V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 286445 chr10 120900825 120900825 A C SFXN4 Nonsynonymous SNV Y315D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.28 286446 chr10 123843696 123843696 A G rs1009483361 TACC2 Nonsynonymous SNV S561G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.406 286447 chr11 71196645 71196645 G A NADSYN1 Nonsynonymous SNV G505S 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 286448 chr3 160156431 160156431 C A rs144731211 TRIM59 Nonsynonymous SNV D181Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 286449 chr11 74500725 74500725 A G RNF169 Nonsynonymous SNV E186G 0 0 0 2 0 0 0.005 0 0 0 0 0 30 286450 chr7 100850144 100850144 G A rs11546151 PLOD3 Synonymous SNV D659D 0.004 0 0.003 0 5 0 0 1 0 0 0 0 Benign 2.984 286451 chr9 117798418 117798418 C G rs139636928 TNC Nonsynonymous SNV G1872A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 286452 chr3 127325109 127325109 C T rs142980535 MCM2 Synonymous SNV Y274Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.665 286453 chr8 17731562 17731562 C A FGL1 Synonymous SNV L156L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.92 286454 chr9 125551715 125551715 C T OR5C1 Synonymous SNV F168F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.658 286455 chr11 247412 247412 C T rs148437656 PSMD13 Nonsynonymous SNV R180W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 286456 chr9 130027175 130027177 AGA - rs746547150 GARNL3 R8del 0 0.003 0 0 0 1 0 0 0 0 0 0 286457 chr3 137882229 137882229 G A DBR1 Synonymous SNV R301R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.597 286458 chr11 700175 700175 C G TMEM80 Nonsynonymous SNV L98V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.64 286459 chr18 74208323 74208323 G A rs183280133 C18orf65 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 286460 chr3 1443202 1443202 A G rs759283074 CNTN6 Synonymous SNV E826E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.753 286461 chr9 131235956 131235956 T A ODF2 Nonsynonymous SNV L179Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 286462 chr12 100452802 100452802 T C rs767771159 UHRF1BP1L Synonymous SNV T751T 0 0 0 3 0 0 0.008 0 0 0 0 0 0.038 286463 chr9 131830570 131830570 G A rs148966107 MIGA2 Nonsynonymous SNV V455I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 286464 chr11 5529162 5529162 G A rs746307529 UBQLN3 Nonsynonymous SNV L543F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.57 286465 chr12 109338927 109338927 G A rs773775904 SVOP Synonymous SNV A145A 0 0 0 4 0 0 0.01 0 0 0 0 0 11.33 286466 chr8 97321824 97321824 C T rs145261755 PTDSS1 Synonymous SNV R203R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 20.3 286467 chr9 135977357 135977357 C T rs548531503 RALGDS Nonsynonymous SNV V672I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 286468 chr7 150105355 150105355 G T rs1007541784 LOC728743 0.001 0 0 0 1 0 0 0 0 0 0 0 3.51 286469 chr12 109725742 109725742 C T FOXN4 Synonymous SNV V125V 0 0 0 2 0 0 0.005 0 0 0 0 0 7.927 286470 chr12 110906786 110906786 C T rs202079205 FAM216A Nonsynonymous SNV P36S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 286471 chr12 111779639 111779639 G A rs779546333 CUX2 Synonymous SNV P1085P 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely benign 7.029 286472 chr9 136577770 136577770 C T rs147188337 SARDH Synonymous SNV P433P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.39 286473 chr9 137328355 137328355 C T rs369370907 RXRA Synonymous SNV I331I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.02 286474 chr12 112237653 112237653 C T rs146323899 MIR6761 0 0 0 3 0 0 0.008 0 0 0 0 0 5.098 286475 chr3 185775243 185775243 G A rs371737460 ETV5 Synonymous SNV D336D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 286476 chr11 2424727 2424727 C T rs2234285 TSSC4 Synonymous SNV V288V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 10.33 286477 chr19 1455439 1455439 C G APC2 Nonsynonymous SNV H192Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 286478 chr11 4388695 4388695 C T rs201717807 OR52B4 Synonymous SNV P277P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.955 286479 chr8 3165932 3165932 T C CSMD1 Nonsynonymous SNV Y1242C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 286480 chr11 5624763 5624763 T C rs761613354 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV L102P 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 286481 chr12 122255585 122255585 C T rs749304625 SETD1B Nonsynonymous SNV S1096F 0 0 0 2 0 0 0.005 0 0 0 0 0 17.7 286482 chr9 140139585 140139585 G A rs201540993 FAM166A Nonsynonymous SNV P203L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 286483 chr9 140500272 140500272 C T rs768969181 ARRDC1 Nonsynonymous SNV P35S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.759 286484 chr3 195517332 195517332 A G MUC4 Synonymous SNV G373G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 286485 chr11 57087997 57087997 C T rs370817180 TNKS1BP1 Nonsynonymous SNV R95H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 286486 chr11 57799282 57799282 G A rs759732975 OR6Q1 Synonymous SNV T286T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.794 286487 chr11 5798956 5798956 T A OR52N5 Synonymous SNV G303G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.763 286488 chr19 17397398 17397398 G A ANKLE1 Nonsynonymous SNV M556I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.515 286489 chr12 132394471 132394471 C T rs372916221 ULK1 Nonsynonymous SNV R245W 0 0 0 2 0 0 0.005 0 0 0 0 0 33 286490 chr12 132636637 132636637 G T rs760918816 NOC4L Nonsynonymous SNV Q442H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 286491 chr19 1785175 1785175 G A rs376028226 ATP8B3 Nonsynonymous SNV T1135M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 286492 chr12 133435768 133435768 C T rs375174098 CHFR Nonsynonymous SNV R186H 0 0 0 2 0 0 0.005 0 0 0 0 0 15.28 286493 chr10 13701448 13701448 G T rs749710776 FRMD4A Synonymous SNV A338A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.053 286494 chr10 13705462 13705462 G A rs775971275 FRMD4A Nonsynonymous SNV L242F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.81 286495 chr12 20799761 20799761 C T PDE3A Synonymous SNV Y492Y 0 0 0 2 0 0 0.005 0 0 0 0 0 13.12 286496 chr10 21806054 21806062 GCGGCGGCG - rs754621872 SKIDA1 A242_A244del 0 0.003 0 0 0 1 0 0 0 0 0 0 286497 chr11 6459632 6459632 T C rs142941089 HPX Synonymous SNV E148E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.044 286498 chr8 144802959 144802959 C T rs141379949 MAPK15 Nonsynonymous SNV P289L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 286499 chr8 144942324 144942324 - C EPPK1 Frameshift insertion P1700Afs*72 0.001 0 0 0 1 0 0 0 0 0 0 0 286500 chr4 81124056 81124056 C G PRDM8 Synonymous SNV A480A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.759 286501 chr8 61769196 61769196 A G CHD7 Nonsynonymous SNV S2453G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 286502 chr10 46965078 46965078 G A rs376542477 LOC102724488, SYT15 Synonymous SNV N173N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.34 286503 chr19 288081 288081 C T rs770255540 PLPP2 Nonsynonymous SNV R48H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 286504 chr11 11964000 11964000 A G rs760186564 USP47 Nonsynonymous SNV Q637R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 286505 chr10 68526112 68526112 C A rs751931703 CTNNA3 Nonsynonymous SNV L397F 0 0.005 0 0 0 2 0 0 0 1 0 0 25.9 286506 chr11 66293622 66293622 G A rs758139447 BBS1 Nonsynonymous SNV R380Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 286507 chr10 70946300 70946300 G A rs568133891 SUPV3L1 Nonsynonymous SNV G20S 0 0.005 0 0 0 2 0 0 0 1 0 0 19.41 286508 chr19 36545883 36545883 G C rs147077663 WDR62 Nonsynonymous SNV V4L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.082 286509 chr3 58183581 58183581 G A rs769575190 DNASE1L3 Nonsynonymous SNV T194M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 286510 chr9 33318778 33318778 A G rs144522602 NFX1 Synonymous SNV V546V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.745 286511 chr10 75523260 75523260 G A SEC24C Nonsynonymous SNV E334K 0 0.005 0 0 0 2 0 0 0 1 0 0 28.3 286512 chr9 35045265 35045265 C T rs200951236 C9orf131 Nonsynonymous SNV A845V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.8 286513 chr10 81697701 81697701 A G rs749427834 SFTPD Synonymous SNV D345D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.109 286514 chr11 46701782 46701782 G A rs757217620 ARHGAP1 Nonsynonymous SNV R291W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 286515 chr11 46911533 46911533 A G LRP4 Nonsynonymous SNV M685T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 286516 chr11 47774649 47774649 G A rs61733166 FNBP4 Synonymous SNV I154I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.11 286517 chr10 96447683 96447683 G A rs145731435 CYP2C18 Nonsynonymous SNV G109R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 286518 chr11 48347044 48347044 G A OR4C3 Synonymous SNV Q157Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.44 286519 chr19 41007903 41007903 T G rs745857677 SPTBN4 Nonsynonymous SNV M287R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 286520 chr4 11400933 11400933 T C rs763984456 HS3ST1 Nonsynonymous SNV R233G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.842 286521 chr11 8016659 8016659 T A rs776597083 EIF3F Nonsynonymous SNV D292E 0 0.003 0 0 0 1 0 0 0 0 0 0 22 286522 chr10 101829484 101829484 T C CPN1 Nonsynonymous SNV N188S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 286523 chr11 82644512 82644512 G C DDIAS Nonsynonymous SNV S711T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.58 286524 chr19 42396713 42396713 G A rs782007974 ARHGEF1 Nonsynonymous SNV R103Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 286525 chr4 122687567 122687567 A G rs529898711 PP12613 0 0 0.003 0 0 0 0 1 0 0 0 0 0.265 286526 chr12 6464475 6464475 A C rs749335890 SCNN1A Nonsynonymous SNV L428W 0 0 0 3 0 0 0.008 0 0 0 0 0 28.3 286527 chr4 126373425 126373425 A G rs79909102 FAT4 Nonsynonymous SNV S3754G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.133 286528 chr10 104117868 104117868 C T rs546158147 GBF1 Nonsynonymous SNV R238C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 286529 chr10 104230829 104230829 C T rs372236050 MFSD13A Nonsynonymous SNV A220V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.84 286530 chr11 56128469 56128469 A C OR8J1 Synonymous SNV T249T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 286531 chr10 114045963 114045963 T C rs762243145 TECTB Synonymous SNV F134F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.841 286532 chr11 95512817 95512817 G A FAM76B Nonsynonymous SNV P216S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 286533 chr12 7970472 7970472 G A rs141124569 SLC2A14 Synonymous SNV N324N 0 0 0 3 0 0 0.008 0 0 0 0 0 9.272 286534 chr4 15562225 15562225 A G rs1044670589 CC2D2A Synonymous SNV E998E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.945 286535 chr10 116931061 116931061 T G rs375042043 ATRNL1 Synonymous SNV L453L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 286536 chr9 5233726 5233726 C - INSL4 S90Yfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 286537 chr9 117350201 117350201 - AAAGAACCGGAGGC ATP6V1G1 0.001 0 0 0 1 0 0 0 0 0 0 0 286538 chr9 117350202 117350202 - GAAGCAGGCCAAAGAAGAAGCTCAGGCTGAAATTGAACAGTACCGCCTGCA ATP6V1G1 0.001 0 0 0 1 0 0 0 0 0 0 0 286539 chr10 120925057 120925057 C T rs372672920 SFXN4 Nonsynonymous SNV E35K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 286540 chr4 1657013 1657013 C T FAM53A Nonsynonymous SNV G192S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 286541 chr4 169183235 169183235 G T rs139933445 DDX60 Synonymous SNV V1063V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 286542 chr4 169342983 169342983 A G rs201507485 DDX60L Synonymous SNV A774A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.274 286543 chr9 123935746 123935746 C A rs375998545 CNTRL Nonsynonymous SNV P1616T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.444 286544 chr12 95926622 95926622 C T rs137901947 USP44 Nonsynonymous SNV G471R 0 0 0 3 0 0 0.008 0 0 0 0 0 32 286545 chr10 129905462 129905462 C T rs778623506 MKI67 Nonsynonymous SNV E1188K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.64 286546 chr10 129917546 129917546 T A rs779944870 MKI67 Nonsynonymous SNV T109S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.07 286547 chr11 60703976 60703976 C T rs939532417 TMEM132A Nonsynonymous SNV P891L 0 0.003 0 0 0 1 0 0 0 0 0 0 28 286548 chr10 134659612 134659612 G A rs143293571 CFAP46 Synonymous SNV T2129T 0 0.005 0 0 0 2 0 0 0 1 0 0 1.5 286549 chr10 134723530 134723530 C T CFAP46 Nonsynonymous SNV E848K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.4 286550 chr11 61300525 61300525 C T rs199660597 SYT7 Nonsynonymous SNV R192H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 286551 chr11 61313634 61313634 C T rs375983429 SYT7 Synonymous SNV P103P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 286552 chr13 111077175 111077175 A G COL4A2 Nonsynonymous SNV E92G 0 0 0 2 0 0 0.005 0 0 0 0 0 18.99 286553 chr11 63069895 63069895 G A rs145117732 SLC22A10 Nonsynonymous SNV A389T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.011 286554 chr9 132397512 132397512 C T rs754452035 NTMT1 Nonsynonymous SNV P119L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 286555 chr4 2749607 2749607 C T TNIP2 Synonymous SNV Q7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 286556 chr11 64065629 64065629 - TCTG KCNK4 Frameshift insertion W238Cfs*191 0 0.003 0 0 0 1 0 0 0 0 0 0 286557 chr11 64677294 64677294 G A rs747149594 ATG2A Nonsynonymous SNV P656S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.81 286558 chr5 70900210 70900210 G A rs145846295 MCCC2 Nonsynonymous SNV R180Q 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Likely benign 23.1 286559 chr13 24190124 24190124 G A TNFRSF19 Nonsynonymous SNV R100H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 286560 chr9 135554927 135554927 A C rs200585752 GTF3C4 Nonsynonymous SNV K641Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 286561 chr9 94874782 94874782 G C rs142153571 SPTLC1 Nonsynonymous SNV F40L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.06 286562 chr9 95021244 95021244 T C IARS1 Synonymous SNV E608E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.153 286563 chr11 65618875 65618875 G A rs771510749 SNX32 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 286564 chr11 65792933 65792933 G A rs148010566 CATSPER1 Synonymous SNV H306H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.478 286565 chr9 96866581 96866581 G A rs372182673 PTPDC1 Nonsynonymous SNV V742M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 286566 chr9 137005029 137005029 C T rs756330692 WDR5 Synonymous SNV T10T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 286567 chr11 67258278 67258278 C T rs139407567 AIP Stop gain Q267X 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.1 286568 chr4 55561862 55561862 G T rs56411694 KIT Synonymous SNV T84T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.179 286569 chr9 111706062 111706062 T A rs141504242 CTNNAL1 Nonsynonymous SNV E659V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 286570 chr13 46946282 46946282 T C rs768724462 RUBCNL Nonsynonymous SNV D110G 0 0 0 3 0 0 0.008 0 0 0 0 0 0.042 286571 chr19 52942032 52942032 G A ZNF534 Nonsynonymous SNV C412Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 286572 chr12 20858888 20858888 C T rs865879669 SLCO1C1 Nonsynonymous SNV L93F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 286573 chr10 294933 294933 G A rs766866544 ZMYND11 Nonsynonymous SNV V429I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 286574 chr12 21643278 21643278 C G rs770637741 RECQL Synonymous SNV L83L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.05 286575 chr19 54610147 54610147 G A rs201151835 NDUFA3 Nonsynonymous SNV D65N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.54 286576 chr11 4608534 4608534 A G OR52I2 Synonymous SNV R164R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 286577 chr9 125562466 125562466 C T OR1K1 Nonsynonymous SNV P22L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 286578 chr4 85742271 85742271 C A WDFY3 Synonymous SNV L519L 0 0 0.003 0 0 0 0 1 0 0 0 0 14 286579 chr1 158046034 158046034 A G rs138764677 KIRREL1 Nonsynonymous SNV M62V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.298 286580 chr11 111575821 111575821 C G SIK2 Synonymous SNV R353R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.39 286581 chr9 134072817 134072817 C G rs72768590 NUP214 Synonymous SNV T138T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.11 286582 chr5 111598198 111598198 G A rs200939030 EPB41L4A Nonsynonymous SNV P212L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 286583 chr14 21485791 21485791 C G rs535431489 NDRG2 Synonymous SNV S356S 0 0 0 3 0 0 0.008 0 0 0 0 0 12.38 286584 chr5 114620535 114620535 T C rs932097010 CCDC112 Nonsynonymous SNV N63S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 286585 chr9 135702700 135702700 C T rs1052986892 AK8 Nonsynonymous SNV A12T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.12 286586 chr9 135779181 135779181 G A rs202241429 TSC1 Nonsynonymous SNV R638C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 286587 chr11 118765002 118765002 G A rs750689771 CXCR5 Nonsynonymous SNV R205Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 286588 chr10 35495894 35495894 G A CREM Nonsynonymous SNV A33T 0.001 0 0 0 1 0 0 0 0 0 0 0 21 286589 chr10 45429172 45429172 G C TMEM72 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.655 286590 chr11 120201187 120201187 G A rs372247884 TLCD5 Nonsynonymous SNV R133Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.86 286591 chr12 52779360 52779360 G A rs73094990 KRT84 Nonsynonymous SNV R4C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 286592 chr10 49791020 49791020 T A ARHGAP22 Nonsynonymous SNV D71V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 286593 chr11 123865289 123865289 G A rs771526853 OR10G6 Nonsynonymous SNV R194W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 286594 chr12 52994946 52994946 G A rs960193408 KRT72 Synonymous SNV I97I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 286595 chr11 123894155 123894155 A G rs200707269 OR10G9 Nonsynonymous SNV S146G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 286596 chr14 24592400 24592400 G A rs749968110 DCAF11 Nonsynonymous SNV R508H 0 0 0 3 0 0 0.008 0 0 0 0 0 26.8 286597 chr19 59074251 59074251 - A MZF1 Frameshift insertion P465Sfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 286598 chr10 50953532 50953532 C T rs750617101 OGDHL Nonsynonymous SNV R287H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 286599 chr1 17287550 17287550 C T CROCC Nonsynonymous SNV L1444F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 286600 chr10 1149586 1149586 C T rs141147575 WDR37 Synonymous SNV P257P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 286601 chr10 7682777 7682777 C T rs781704459 ITIH5 Nonsynonymous SNV R114K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.479 286602 chr10 74828626 74828626 G T P4HA1 Synonymous SNV T147T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.81 286603 chr5 150578576 150578576 T A rs148835102 CCDC69 Nonsynonymous SNV N101Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.836 286604 chr12 7045897 7045897 - CAGCAGCAGCAGCAG ATN1 Q502_H503insQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 286605 chr14 65208879 65208879 C G rs150951361 PLEKHG3 Nonsynonymous SNV R882G 0 0 0 3 0 0 0.008 0 0 0 0 0 22.7 286606 chr14 70040199 70040199 - GAGGCC rs766878645 CCDC177 A48_A49insSA 0 0 0 1 0 0 0.003 0 0 0 0 0 286607 chr5 175810987 175810987 C T NOP16 Nonsynonymous SNV V232I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.558 286608 chr10 100150357 100150357 G A rs772080429 PYROXD2 Synonymous SNV H430H 0.002 0 0 0 2 0 0 0 0 0 0 0 4.125 286609 chr10 100150481 100150481 G A rs544916988 PYROXD2 Nonsynonymous SNV A389V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 286610 chr10 100152715 100152715 C A rs149406474 PYROXD2 Nonsynonymous SNV S304I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.23 286611 chr1 109743463 109743463 G C KIAA1324 Nonsynonymous SNV D634H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 286612 chr12 28116451 28116451 C G PTHLH Synonymous SNV P118P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.88 286613 chr12 32996182 32996186 TGGGA - rs775995156 PKP2 N480Kfs*20 0 0.003 0 0 0 1 0 0 0 0 0 0 286614 chr10 116049153 116049153 G A rs200221496 VWA2 Nonsynonymous SNV R676Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 286615 chr10 120892026 120892026 G C rs762517968 DENND10 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 286616 chr13 24823685 24823685 C T SPATA13 Nonsynonymous SNV P575L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.71 286617 chr13 25029336 25029336 G A rs150898039 PARP4 Synonymous SNV V859V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 286618 chr13 30854289 30854289 A C rs143680312 KATNAL1 Nonsynonymous SNV I78M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.578 286619 chr13 31736123 31736123 G C rs966140263 HSPH1 Nonsynonymous SNV R37G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.31 286620 chr11 57268304 57268304 G A rs140786583 SLC43A1 Nonsynonymous SNV A138V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 286621 chr11 695629 695629 T G rs1009512231 TMEM80 Synonymous SNV S7S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.058 286622 chr12 52758804 52758804 C G KRT85 Nonsynonymous SNV G191R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 286623 chr11 59211034 59211034 C T rs910763097 OR5A1 Synonymous SNV S131S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.823 286624 chr11 59211268 59211268 C T rs777380839 OR5A1 Synonymous SNV V209V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.334 286625 chr10 135170448 135170448 G A rs759376540 FUOM Nonsynonymous SNV P52L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 286626 chr11 60889374 60889374 C T rs773746400 CD5 Nonsynonymous SNV T309I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 286627 chr13 50265454 50265454 T C EBPL Nonsynonymous SNV Q36R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.88 286628 chr10 100154995 100154995 G A rs767157899 PYROXD2 Nonsynonymous SNV A248V 0.001 0 0 0 1 0 0 0 0 0 0 0 28 286629 chr11 985498 985498 C T rs754072981 AP2A2 Nonsynonymous SNV P294L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 286630 chr11 1074963 1074963 C T rs200679388 MUC2 Nonsynonymous SNV S21L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.488 286631 chr11 65638646 65638646 C T rs749326725 EFEMP2 Nonsynonymous SNV D117N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.69 286632 chr6 111697270 111697270 G A REV3L Nonsynonymous SNV T763I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 286633 chr6 112435335 112435335 G A rs200177134 LAMA4 Nonsynonymous SNV P1757L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 286634 chr11 68748205 68748205 C A rs749517107 MRGPRD Nonsynonymous SNV S84I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.099 286635 chr11 69242389 69242389 G A rs1028388508 LOC102724265 Synonymous SNV P92P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.928 286636 chr14 105615397 105615397 G T JAG2 Nonsynonymous SNV P557T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 286637 chr6 118596766 118596766 G A SLC35F1 Nonsynonymous SNV S261N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 286638 chr1 161967707 161967707 G A rs368834766 OLFML2B Nonsynonymous SNV S462L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.215 286639 chr15 72195347 72195347 T C rs140202785 MYO9A Nonsynonymous SNV N979D 0 0 0 2 0 0 0.005 0 0 0 0 0 0.169 286640 chr12 99038448 99038448 C T IKBIP Nonsynonymous SNV G11E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 286641 chr11 76246975 76246975 G A rs780519621 EMSY Nonsynonymous SNV R745H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 286642 chr12 104046355 104046355 A G rs190465521 STAB2 Nonsynonymous SNV N427D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.934 286643 chr11 77920562 77920562 C T rs201603605 USP35 Nonsynonymous SNV P554L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.23 286644 chr1 169930215 169930215 G C KIFAP3 Synonymous SNV L671L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.625 286645 chr15 78316738 78316738 G C TBC1D2B Nonsynonymous SNV S410R 0 0 0 2 0 0 0.005 0 0 0 0 0 10.77 286646 chr6 136475290 136475290 C G rs772434999 PDE7B Nonsynonymous SNV H186D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 286647 chr14 22951945 22951945 C T rs376350343 LOC105370401 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.11 286648 chr15 78893720 78893720 T A CHRNA3 Nonsynonymous SNV S422C 0 0 0 2 0 0 0.005 0 0 0 0 0 12.35 286649 chr12 109540689 109540689 T G rs199547586 UNG Nonsynonymous SNV F184L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 286650 chr12 112757301 112757301 G A HECTD4 Synonymous SNV F141F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.68 286651 chr12 113836375 113836375 C A rs377232574 SDS Nonsynonymous SNV A124S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.35 286652 chr6 152806014 152806014 C T rs146366996 SYNE1 Nonsynonymous SNV D388N 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 32 286653 chr11 5444040 5444040 C T rs78214713 OR51Q1 Nonsynonymous SNV L204F 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 286654 chr12 123019270 123019270 C T rs78869558 KNTC1 Synonymous SNV A63A 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 19.78 286655 chr12 123036029 123036029 G C rs75833329 KNTC1 Synonymous SNV V385V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 6.456 286656 chr12 123042004 123042004 C A rs78912868 KNTC1 Nonsynonymous SNV T449N 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.664 286657 chr12 123078864 123078864 G A rs34135515 KNTC1 Synonymous SNV K1429K 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 9.083 286658 chr11 608535 608535 G A rs769875785 PHRF1 Nonsynonymous SNV D1027N 0.001 0 0 0 1 0 0 0 0 0 0 0 27 286659 chr6 16327538 16327538 C T rs554480203 ATXN1 Nonsynonymous SNV G335E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 286660 chr6 165715296 165715296 C T rs545305011 C6orf118 Nonsynonymous SNV R172H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.171 286661 chr11 113144517 113144517 G C rs144710796 NCAM1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 286662 chr15 99768905 99768905 G A TTC23 Stop gain Q5X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 286663 chr6 18121773 18121773 C T rs752799460 NHLRC1 Synonymous SNV P355P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 286664 chr6 19838314 19838314 C T rs149534584 ID4 Nonsynonymous SNV T110M 0 0 0.003 0 0 0 0 1 0 0 0 0 26 286665 chr6 20109879 20109879 C T rs139713220 MBOAT1 Synonymous SNV T437T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 286666 chr1 40367538 40367538 C G MYCL Nonsynonymous SNV R8P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 286667 chr12 133218264 133218264 C T rs149893630 POLE Nonsynonymous SNV D1783N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.4 286668 chr16 1263851 1263851 C T rs776165690 CACNA1H Nonsynonymous SNV H1611Y 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 26 286669 chr14 65253678 65253678 C T rs780815297 SPTB Nonsynonymous SNV R1002H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 286670 chr13 20763051 20763051 T G rs111033194 GJB2 Nonsynonymous SNV K224Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 8.552 286671 chr13 21306070 21306070 C T rs146153743 EEF1AKMT1 Nonsynonymous SNV A140T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.9 286672 chr16 14234482 14234482 A G MRTFB Nonsynonymous SNV I7V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 286673 chr14 72961939 72961939 G A rs201093075 RGS6 Nonsynonymous SNV D277N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 286674 chr14 74973977 74973977 C T rs993574230 LTBP2 Nonsynonymous SNV C1271Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.4 286675 chr13 42259299 42259299 C T rs373518560 VWA8 Nonsynonymous SNV G1404E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 286676 chr16 2140912 2140912 G C rs112387277 PKD1 Synonymous SNV A3991A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 3.441 286677 chr13 46533694 46533694 T C ZC3H13 Nonsynonymous SNV N1588S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 286678 chr11 130284668 130284668 G A rs36124917 ADAMTS8 Nonsynonymous SNV R442C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 18.79 286679 chr1 215793852 215793852 C T rs140685751 KCTD3 Synonymous SNV S778S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 14.46 286680 chr6 41250484 41250484 G A rs202123418 TREM1 Stop gain R19X 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 286681 chr13 52661583 52661583 C T rs140291042 NEK5 Nonsynonymous SNV R428H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 286682 chr14 94100883 94100883 G C UNC79 Nonsynonymous SNV M1734I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 286683 chr14 94423190 94423190 G A rs377036265 ASB2 Nonsynonymous SNV P30L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.58 286684 chr6 44243748 44243748 G A TMEM151B Synonymous SNV L395L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.308 286685 chr6 44253939 44253939 G T rs377717322 TCTE1 Nonsynonymous SNV P203Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.523 286686 chr14 95670209 95670209 T C rs1000450405 CLMN Nonsynonymous SNV I493V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 286687 chr12 6782541 6782541 G T rs189033097 ZNF384 Nonsynonymous SNV T196N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 286688 chr12 6981586 6981586 C G rs12370300 SPSB2 Nonsynonymous SNV Q160H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.904 286689 chr1 227262042 227262042 C T rs879775085 CDC42BPA Nonsynonymous SNV R754Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 286690 chr11 5922961 5922961 A T OR52E5 Nonsynonymous SNV I323F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.925 286691 chr6 54173584 54173584 C T rs41276060 TINAG Nonsynonymous SNV A79V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 286692 chr12 10167986 10167986 T C rs189582628 CLEC12B Nonsynonymous SNV I182T 0 0.003 0 0 0 1 0 0 0 0 0 0 23 286693 chr6 7379050 7379050 C T rs377555769 CAGE1 Nonsynonymous SNV E27K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 286694 chr1 230203094 230203094 A C GALNT2 Nonsynonymous SNV M23L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.588 286695 chr15 41072184 41072184 C T rs374405438 DNAJC17 Synonymous SNV A30A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.936 286696 chr12 13367593 13367593 G A rs775343780 EMP1 Nonsynonymous SNV G148S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.6 286697 chr15 42977864 42977864 T A rs751138089 STARD9 Nonsynonymous SNV M1363K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.5 286698 chr15 43622010 43622010 G A rs769943783 LCMT2 Synonymous SNV A226A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.949 286699 chr1 237813228 237813228 A C rs776923966 RYR2 Nonsynonymous SNV T2522P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 286700 chr16 618166 618166 - G rs753895271 NHLRC4 Frameshift insertion W43Lfs*65 0 0 0 1 0 0 0.003 0 0 0 0 0 286701 chr6 99912558 99912558 A G rs143913725 USP45 Synonymous SNV D352D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 286702 chr7 100172175 100172175 G A rs903836480 ZASP Nonsynonymous SNV P2L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.942 286703 chr16 67470661 67470661 A G HSD11B2 Nonsynonymous SNV I325V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 286704 chr14 35270399 35270399 C T rs769765169 BAZ1A Nonsynonymous SNV E288K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 286705 chr11 19854078 19854078 C A NAV2 Nonsynonymous SNV R42S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 286706 chr16 69364840 69364840 G T rs548002506 COG8 Nonsynonymous SNV P581T 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 Benign/Likely benign 0.042 286707 chr20 13868440 13868440 A T SEL1L2 Nonsynonymous SNV S240R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 286708 chr12 46211569 46211569 G A rs896638040 ARID2 Nonsynonymous SNV V179I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 286709 chr7 95035551 95035551 C T rs746941164 PON2 Synonymous SNV E262E 0 0 0 2 0 0 0.005 0 0 0 0 0 8.591 286710 chr11 57154991 57154991 C T rs201649105 PRG2 Nonsynonymous SNV R198Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 286711 chr11 45249611 45249611 C T rs534212188 PRDM11 Synonymous SNV Y1145Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 286712 chr7 103015002 103015002 A G rs762004358 SLC26A5 Synonymous SNV F661F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.226 286713 chr7 103183202 103183202 C T rs200010849 RELN Nonsynonymous SNV R2216Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.2 286714 chr12 53039343 53039343 C G rs777454678 KRT2 Nonsynonymous SNV D494H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 286715 chr14 70245232 70245232 A T rs780554510 SLC10A1 Nonsynonymous SNV V254D 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 286716 chr7 122130154 122130154 G A rs781554680 CADPS2 Synonymous SNV L611L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.284 286717 chr7 128049342 128049342 C T rs557857234 IMPDH1 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 286718 chr12 54349297 54349297 A T rs751041177 HOXC12 Nonsynonymous SNV N195I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.4 286719 chr12 54925987 54925987 C T rs141526896 NCKAP1L Nonsynonymous SNV P889S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.62 286720 chr12 57926003 57926003 G A DCTN2 Synonymous SNV H342H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 286721 chr7 141631569 141631569 G A rs140946328 CLEC5A Nonsynonymous SNV R112C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 286722 chr7 100674492 100674492 C T rs374703099 MUC17 Synonymous SNV H58H 0 0 0 2 0 0 0.005 0 0 0 0 0 10.43 286723 chr14 93170620 93170620 C T rs377533058 LGMN Synonymous SNV P369P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.949 286724 chr7 101845022 101845022 C T CUX1 Synonymous SNV G826G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.32 286725 chr14 94203631 94203631 C T rs369364290 PRIMA1 Synonymous SNV V105V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.31 286726 chr1 45088434 45088434 A G RNF220 Nonsynonymous SNV D21G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 286727 chr7 148992230 148992230 T A rs143390762 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 5.451 286728 chr7 149174758 149174758 G A rs61746598 ZNF746 Synonymous SNV G203G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.889 286729 chr17 1680602 1680602 C G rs148717983 SERPINF1 Synonymous SNV P186P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.232 286730 chr7 1498873 1498873 G A rs111246477 MICALL2 Synonymous SNV F30F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.57 286731 chr7 150217735 150217735 A G rs114268593 GIMAP7 Nonsynonymous SNV T225A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 286732 chr12 82747040 82747040 T A CCDC59 Stop gain K206X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 286733 chr7 150554581 150554581 C T rs553084982 AOC1 Synonymous SNV F341F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.482 286734 chr17 1840461 1840461 C T rs763553016 RTN4RL1 Nonsynonymous SNV D219N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 286735 chr7 151110030 151110030 T A rs10274357 WDR86-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 9.806 286736 chr14 104492423 104492423 C A TDRD9 Nonsynonymous SNV L991I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.25 286737 chr14 104645035 104645035 C T rs535957728 KIF26A Synonymous SNV I1753I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.54 286738 chr7 1573784 1573784 C T rs112808977 LOC100128653 0 0 0.003 0 0 0 0 1 0 0 0 0 7.156 286739 chr16 14031641 14031641 C T rs763332387 ERCC4 Synonymous SNV Y610Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.54 286740 chr16 14031642 14031642 G A rs749814308 ERCC4 Nonsynonymous SNV G611R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 286741 chr16 14346298 14346298 A C MRTFB Nonsynonymous SNV D870A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 286742 chr12 104118858 104118858 G A rs144900279 STAB2 Nonsynonymous SNV G1597S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 286743 chr12 104119935 104119935 G A rs147540847 STAB2 Synonymous SNV Q1615Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 286744 chr11 75563021 75563021 T C rs141406262 UVRAG Nonsynonymous SNV C71R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 286745 chr15 34640455 34640455 C T rs762115937 NUTM1 Nonsynonymous SNV P119L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 286746 chr12 111785671 111785671 C T rs942496326 CUX2 Nonsynonymous SNV P1273S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.253 286747 chr16 22144258 22144258 G C VWA3A Nonsynonymous SNV G637A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 286748 chr15 43132594 43132594 C T rs879667318 TTBK2 Synonymous SNV R85R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 286749 chr1 8384564 8384564 - GCC SLC45A1 S59delinsCP 0.001 0 0 0 1 0 0 0 0 0 0 0 286750 chr7 44148736 44148738 AGG - rs776612900 AEBP1 E352del 0 0 0.003 0 0 0 0 1 0 0 0 0 286751 chr16 30982918 30982918 C T rs200812185 SETD1A Nonsynonymous SNV P1079L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.78 286752 chr13 21557682 21557682 G A rs140414560 LATS2 Synonymous SNV A721A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.727 286753 chr11 71944490 71944490 G A INPPL1 Synonymous SNV R682R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 286754 chr15 62359973 62359973 G C rs762169097 C2CD4A Nonsynonymous SNV R54P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 286755 chr15 65871779 65871779 C T rs762255473 INTS14 Synonymous SNV T429T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 286756 chr13 36220430 36220430 C T rs200250784 NBEA Nonsynonymous SNV T344M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 286757 chr15 68502039 68502039 T C rs587780316 CLN6 Nonsynonymous SNV K201E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 1.316 286758 chr7 82579645 82579645 C T rs369889492 PCLO Nonsynonymous SNV R3420Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 286759 chr13 46585677 46585677 C A ZC3H13 Nonsynonymous SNV G154V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 286760 chr13 49089443 49089443 C T rs572239977 RCBTB2 Nonsynonymous SNV V59I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.02 286761 chr11 125792722 125792722 T C rs746218045 DDX25 Synonymous SNV S352S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.601 286762 chr13 98829177 98829177 G A rs138253916 RNF113B Nonsynonymous SNV P105L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 286763 chr15 83926611 83926611 C G rs144960475 BNC1 Synonymous SNV L849L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.293 286764 chr13 103382706 103382706 A G CCDC168 Synonymous SNV L6781L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.033 286765 chr8 106801055 106801055 C T ZFPM2 Synonymous SNV L161L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 286766 chr13 111932966 111932966 C T rs539695846 ARHGEF7 Nonsynonymous SNV T321M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.1 286767 chr15 91025250 91025250 C A IQGAP1 Synonymous SNV R1130R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.46 286768 chr8 133854970 133854970 A G rs16904753 PHF20L1 Synonymous SNV P840P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 286769 chr8 133900495 133900495 G A rs16904774 TG Nonsynonymous SNV G815R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.345 286770 chr8 133906136 133906136 G C rs16893332 TG Nonsynonymous SNV R988P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.49 286771 chr15 93522429 93522429 A G rs753058189 CHD2 Nonsynonymous SNV K931R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 17.62 286772 chr12 10601932 10601932 G A rs770430465 KLRC1 Synonymous SNV Y113Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 286773 chr15 101593507 101593507 C T rs768518027 LRRK1 Synonymous SNV H1312H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 286774 chr14 23373496 23373496 G A rs368166923 RBM23 Nonsynonymous SNV R268C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 286775 chr14 23451331 23451331 G C AJUBA Nonsynonymous SNV P49A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 286776 chr12 14659955 14659955 A G rs144565614 PLBD1 Synonymous SNV Y428Y 0.002 0 0 0 2 0 0 0 0 0 0 0 5.33 286777 chr20 55020999 55020999 C T rs77627768 CASS4 Nonsynonymous SNV T114I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.75 286778 chr12 21036487 21036490 TCTT - SLCO1B3, SLCO1B3-SLCO1B7 S517Cfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 286779 chr14 33015634 33015634 T C AKAP6 Nonsynonymous SNV M592T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 286780 chr17 10428247 10428247 C T rs774036368 MYH2 Nonsynonymous SNV V1600M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 286781 chr12 970215 970215 A T WNK1 Nonsynonymous SNV T553S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 286782 chr17 11725787 11725787 G A rs776780513 DNAH9 Synonymous SNV K2961K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.707 286783 chr16 2522722 2522722 G A rs749375696 NTN3 Nonsynonymous SNV A317T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.91 286784 chr8 17573376 17573376 T G rs373040921 MTUS1 Nonsynonymous SNV K75N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 286785 chr17 7366994 7366994 T G rs200263417 ZBTB4 Nonsynonymous SNV E436A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 5.704 286786 chr17 73916141 73916141 C T rs200468077 FBF1 Synonymous SNV G626G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.08 286787 chr17 74005899 74005899 C T rs138147066 EVPL Synonymous SNV S1151S 0 0 0 2 0 0 0.005 0 0 0 0 0 7.156 286788 chr16 3647498 3647500 GGA - rs761510940 SLX4 P523del 0 0.003 0 0 0 1 0 0 0 0 0 0 286789 chr17 74056418 74056418 T C rs150793464 SRP68 Nonsynonymous SNV T232A 0 0 0 2 0 0 0.005 0 0 0 0 0 6.137 286790 chr16 4871595 4871595 C T GLYR1 Nonsynonymous SNV A148T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.11 286791 chr17 2270641 2270641 G A rs145103383 SGSM2 Synonymous SNV L455L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.132 286792 chr21 33679023 33679023 T G MRAP Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 286793 chr17 77709214 77709214 G A rs782158669 ENPP7 Nonsynonymous SNV D258N 0 0 0 2 0 0 0.005 0 0 0 0 0 19.01 286794 chr8 30889635 30889635 T C rs750824000 PURG Nonsynonymous SNV I222V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 286795 chr21 37664527 37664527 T C rs767203110 DOP1B Nonsynonymous SNV F2214S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 286796 chr17 2911352 2911352 C T rs36016465 RAP1GAP2 Synonymous SNV H454H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.78 286797 chr17 78319867 78319867 C G rs756192421 RNF213 Nonsynonymous SNV L2578V 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 286798 chr14 75302033 75302033 C T rs372259639 YLPM1 Synonymous SNV V2120V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.06 286799 chr17 3101141 3101141 C A rs59497198 OR1A2 Nonsynonymous SNV A110E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.61 286800 chr17 3101172 3101172 C T rs57842312 OR1A2 Synonymous SNV Y120Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.521 286801 chr17 3101542 3101542 C T rs56058341 OR1A2 Nonsynonymous SNV L244F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 22.1 286802 chr12 53682043 53682043 C G rs61737629 ESPL1 Nonsynonymous SNV I1488M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 286803 chr14 80971291 80971291 G A rs373014765 CEP128 Nonsynonymous SNV R1049C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.98 286804 chr8 59728227 59728227 C T rs201668109 TOX Synonymous SNV S354S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 286805 chr21 43796716 43796716 G A rs111033292 TMPRSS3 Synonymous SNV Y249Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.055 286806 chr14 90442142 90442142 G A rs139270583 TDP1 Synonymous SNV A258A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.02 286807 chr17 8701497 8701497 C G rs189267287 MFSD6L Nonsynonymous SNV M314I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.006 286808 chr14 95906279 95906279 T G SYNE3 Nonsynonymous SNV D682A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.049 286809 chr17 38792665 38792665 G A rs149613910 SMARCE1 Synonymous SNV N117N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign/Likely benign 12.45 286810 chr12 109670592 109670592 A G ACACB Nonsynonymous SNV R1374G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 286811 chr12 72667056 72667056 G A rs9651989 TRHDE Synonymous SNV E166E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.57 286812 chr12 113826356 113826356 G A rs140299197 PLBD2 Synonymous SNV S533S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 286813 chr17 39346249 39346249 T C rs746620162 KRTAP9-1 Synonymous SNV C37C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 286814 chr16 66600578 66600579 CG - rs772404836 CMTM1 A55Sfs*18 0 0.003 0 0 0 1 0 0 0 0 0 0 286815 chr16 66600582 66600599 GTCTCAATTCGCAGTGCG - rs780357032 CMTM1 V56_A61del 0 0.003 0 0 0 1 0 0 0 0 0 0 286816 chr18 31241643 31241643 C T rs769668170 ASXL3 Nonsynonymous SNV A140V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 286817 chr22 23406203 23406203 A T RSPH14 Nonsynonymous SNV L177H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 286818 chr12 106460782 106460782 C A rs141618950 NUAK1 Nonsynonymous SNV R595L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 286819 chr12 106715332 106715332 A G rs142176314 TCP11L2 Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.182 286820 chr17 4443710 4443710 C G rs77584164 MYBBP1A Nonsynonymous SNV A1123P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.82 286821 chr12 109698459 109698459 G A rs776795041 ACACB Nonsynonymous SNV S2224N 0.001 0 0 0 1 0 0 0 0 0 0 0 28 286822 chr15 41247949 41247949 G A rs146807600 CHAC1 Nonsynonymous SNV E216K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.3 286823 chr15 41388111 41388111 A G rs147465346 INO80 Synonymous SNV D53D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 2.283 286824 chr9 124535246 124535246 C T DAB2IP Synonymous SNV S689S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 286825 chr15 41648326 41648326 A G rs201804044 NUSAP1 Nonsynonymous SNV I157V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.024 286826 chr2 183951816 183951816 A G rs138141432 DUSP19 Nonsynonymous SNV S108G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 286827 chr16 85694879 85694879 C T rs745652222 GSE1 Synonymous SNV L486L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.248 286828 chr18 60985637 60985637 G C rs781718615 BCL2 Nonsynonymous SNV P88R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 286829 chr15 44085869 44085869 C T SERF2 Nonsynonymous SNV P71L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 286830 chr12 120110186 120110186 G A rs781479743 PRKAB1 Synonymous SNV T80T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 286831 chr15 44089135 44089135 T C rs139261226 SERINC4 Nonsynonymous SNV Q39R 0 0.003 0 0 0 1 0 0 0 0 0 0 22 286832 chr12 56396504 56396504 G T rs202085145 SUOX Nonsynonymous SNV R76S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.92 286833 chr22 37524325 37524325 A C IL2RB Synonymous SNV P489P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 286834 chr12 57110893 57110893 G A NACA Nonsynonymous SNV S1474F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 286835 chr16 88800080 88800080 G A rs375353698 PIEZO1 Synonymous SNV R801R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.921 286836 chr12 57589888 57589888 C T rs370412692 LRP1 Nonsynonymous SNV S2907L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 286837 chr22 40045840 40045840 C T rs373807263 CACNA1I Synonymous SNV R599R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 286838 chr16 89862422 89862422 C T FANCA Nonsynonymous SNV G300R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 286839 chr9 133914603 133914603 C T rs148513856 LAMC3 Synonymous SNV P417P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 18.6 286840 chr15 59409486 59409486 T C CCNB2 Synonymous SNV Y298Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.045 286841 chr15 59510135 59510135 C G rs745860377 MYO1E Synonymous SNV A354A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.46 286842 chr15 59808988 59808988 G C FAM81A Nonsynonymous SNV E311Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.83 286843 chr12 80603245 80603245 C A rs539100194 OTOGL Nonsynonymous SNV P3T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 286844 chr9 136029410 136029410 C T rs34903033 GBGT1 Stop gain W193X 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 286845 chr17 3101353 3101353 A G rs903482950 OR1A2 Nonsynonymous SNV I181V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 286846 chr9 136325299 136325299 G A rs144774636 CACFD1 Synonymous SNV L37L 0.001 0.003 0.003 2 1 1 0.005 1 0 0 0 0 8.738 286847 chr15 69327728 69327728 G A rs1048138065 NOX5 Nonsynonymous SNV R269Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 286848 chr13 24243133 24243133 C T rs369698575 TNFRSF19 Nonsynonymous SNV T249I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.15 286849 chr9 139836073 139836073 C T rs372906257 FBXW5 Nonsynonymous SNV G387D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 286850 chr12 108918242 108918242 C T rs35743747 SART3 Synonymous SNV S855S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 286851 chr12 109181932 109181932 A C rs61739302 SSH1 Nonsynonymous SNV S994R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.113 286852 chr12 109185937 109185937 T A rs563736919 SSH1 Nonsynonymous SNV Y684F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.406 286853 chr12 109634854 109634854 T C rs150233687 ACACB Synonymous SNV N841N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.272 286854 chr12 109639410 109639410 A T rs144385811 ACACB Nonsynonymous SNV R939S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.152 286855 chr17 7137459 7137459 G C rs144560226 DVL2 Synonymous SNV G41G 0 0.005 0 0 0 2 0 0 0 0 0 0 13.06 286856 chr13 37441423 37441423 C T rs372254094 SMAD9 Synonymous SNV S256S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.892 286857 chr15 78921590 78921590 C T rs537367322 CHRNB4 Nonsynonymous SNV D353N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.183 286858 chr15 78923491 78923491 G A rs373299350 CHRNB4 Nonsynonymous SNV R96C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 286859 chr17 72769082 72769082 G A rs772508801 NAT9 Nonsynonymous SNV T65I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 286860 chr15 81585040 81585040 G C rs752638406 IL16 Nonsynonymous SNV G522R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 286861 chr17 7726770 7726770 G A rs989834313 DNAH2 Nonsynonymous SNV R3718Q 0 0.005 0 0 0 2 0 0 0 0 0 0 26.3 286862 chr17 7324356 7324356 G A SPEM1 Nonsynonymous SNV C121Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.844 286863 chr17 7324410 7324410 A T SPEM1 Nonsynonymous SNV Q139L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 286864 chr15 85448856 85448856 G A rs748785341 SLC28A1 Synonymous SNV A230A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 286865 chr9 4583146 4583146 C A rs151011035 SLC1A1 Synonymous SNV T434T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 286866 chr19 17683377 17683377 C T rs137936254 COLGALT1 Synonymous SNV A305A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.78 286867 chr9 71854864 71854864 A G rs75668442 TJP2 Synonymous SNV A793A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.692 286868 chr9 71861675 71861675 A G rs75450131 TJP2 Nonsynonymous SNV Q883R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 29.7 286869 chr9 71998633 71998633 G A rs144052597 FAM189A2 Synonymous SNV P194P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 286870 chr9 72840691 72840691 T C rs35534839 MAMDC2 Nonsynonymous SNV V646A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.473 286871 chr9 72913041 72913041 A G rs116117325 SMC5 Nonsynonymous SNV N405D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.756 286872 chr15 90213441 90213441 C T rs375328191 PLIN1 Nonsynonymous SNV R123H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 286873 chr15 90414749 90414749 G A rs757603423 AP3S2, ARPIN-AP3S2 Synonymous SNV F101F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.13 286874 chr13 28155461 28155461 C T LNX2 Nonsynonymous SNV C127Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 286875 chrX 102508716 102508716 G C rs751665843 TCEAL8 Nonsynonymous SNV D64E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 286876 chrX 103294585 103294585 A G rs201608628 H2BFM Synonymous SNV T14T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 286877 chrX 108636191 108636191 G A rs754009397 GUCY2F Nonsynonymous SNV R840W 0 0 0.003 0 0 0 0 1 0 0 0 0 30 286878 chr16 780552 780552 G C CIAO3 Synonymous SNV P432P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.342 286879 chr2 179481315 179481315 G T TTN Nonsynonymous SNV T7003N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.75 286880 chrX 13778657 13778657 G A rs754615597 OFD1 Nonsynonymous SNV G653E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.023 286881 chr17 39197519 39197519 - AGCTGGTCTCACAGCAGCGTGGCTGGCAGG KRTAP1-1 S43_C44insSCQPRCCETS 0 0.003 0 0 0 1 0 0 0 0 0 0 286882 chr14 24769301 24769301 G T NOP9 Synonymous SNV S47S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.429 286883 chr14 24884101 24884101 A C NYNRIN Nonsynonymous SNV D1049A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.9 286884 chr14 24885001 24885001 C T rs538061448 NYNRIN Nonsynonymous SNV T1349M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 286885 chr14 24901063 24901063 G A KHNYN Nonsynonymous SNV S240N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 286886 chr13 77661787 77661787 A G rs371720729 MYCBP2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.896 286887 chr13 79189952 79189952 T C rs762794710 OBI1 Synonymous SNV T648T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.201 286888 chr13 99061642 99061642 G T rs3736866 FARP1 Nonsynonymous SNV G489W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 286889 chr14 38310752 38310752 G A rs754937367 TTC6 Nonsynonymous SNV A435T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 286890 chrX 30268859 30268859 C T rs771567216 MAGEB1 Synonymous SNV A83A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.87 286891 chr19 39207744 39207744 C T ACTN4 Nonsynonymous SNV R311C 0 0 0 2 0 0 0.005 0 0 0 0 0 35 286892 chr16 15820795 15820797 CTT - rs730880147 MYH11 K1256del 0 0.003 0 0 0 1 0 0 0 0 0 0 286893 chrX 48681733 48681733 C T rs782017697 HDAC6 Nonsynonymous SNV T975M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 286894 chrX 56590800 56590800 C T UBQLN2 Nonsynonymous SNV S165F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 286895 chrX 56591879 56591879 C T rs369947678 UBQLN2 Nonsynonymous SNV P525S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.674 286896 chrX 57358113 57358113 A T rs768128846 FAAH2 Synonymous SNV G165G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 286897 chr16 21080900 21080900 G A rs931336674 DNAH3 Synonymous SNV L1027L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.76 286898 chr16 23546342 23546342 G A EARS2 Synonymous SNV P275P 0.002 0.003 0 0 2 1 0 0 1 0 0 0 6.37 286899 chrX 73069854 73069854 C T rs181822244 XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 286900 chrX 77289236 77289236 A G rs782486797 ATP7A Nonsynonymous SNV K1065R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 286901 chr2 210517934 210517934 T C MAP2 Nonsynonymous SNV W14R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 286902 chr16 27374721 27374721 G A rs746246484 IL4R Nonsynonymous SNV G683E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.083 286903 chr14 61190669 61190669 C T SIX4 Nonsynonymous SNV G42R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 286904 chr16 31089780 31089780 C T ZNF646 Nonsynonymous SNV S712L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.161 286905 chr10 102762658 102762658 C T rs201351034 LZTS2 Synonymous SNV R121R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 286906 chr16 47549436 47549436 A G rs139738333 PHKB Nonsynonymous SNV N173S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 286907 chr16 49671919 49671919 A G rs142835239 ZNF423 Nonsynonymous SNV S265P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.25 286908 chr10 105944885 105944885 C T rs146166238 CFAP43 Nonsynonymous SNV R677Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 286909 chr14 24523619 24523619 G A rs377283873 CARMIL3 Synonymous SNV T87T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 286910 chr16 57849515 57849515 C T LOC388282 Synonymous SNV L159L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.75 286911 chr14 77718239 77718239 G A rs368565249 TMEM63C Nonsynonymous SNV E716K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.704 286912 chr14 77843928 77843928 A T rs765698250 SAMD15 Nonsynonymous SNV Q56L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 286913 chr16 67573999 67573999 G A rs146876313 RIPOR1 Nonsynonymous SNV R157Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 286914 chr16 67876796 67876796 - CAGCAGCAACAGCAGCAG rs775638390 THAP11 Q132_S133insQQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 286915 chr14 88904604 88904604 C A SPATA7 Nonsynonymous SNV D514E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 286916 chr16 70597833 70597833 G T rs907710605 SF3B3 Synonymous SNV L781L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.468 286917 chr14 90420949 90420949 T G rs147386709 EFCAB11 Nonsynonymous SNV E19A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 286918 chr10 126631450 126631450 G C rs376069957 ZRANB1 Nonsynonymous SNV V130L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.897 286919 chr10 126655306 126655306 A G rs200541027 ZRANB1 Nonsynonymous SNV I320V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 286920 chr2 231906043 231906043 G A rs983733713 C2orf72 Nonsynonymous SNV G223R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.642 286921 chr16 71683110 71683110 T C PHLPP2 Nonsynonymous SNV M1152V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 286922 chr10 12811686 12811686 G A rs566744334 CAMK1D Synonymous SNV L151L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.362 286923 chr16 71954680 71954680 T C IST1 Synonymous SNV Y132Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.282 286924 chr17 73888358 73888358 G A TRIM65 Nonsynonymous SNV T245I 0 0.003 0 0 0 1 0 0 0 0 0 0 1.061 286925 chr16 75269408 75269408 C A BCAR1 Synonymous SNV L253L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 286926 chr14 100705788 100705796 CCACCACCA - rs761947295 YY1 H78_H80del 0.001 0 0 0 1 0 0 0 0 0 0 0 286927 chr17 76503646 76503646 T C rs200445054 DNAH17 Nonsynonymous SNV Q1493R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 286928 chr14 100847834 100847834 A T WDR25 Synonymous SNV T191T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 286929 chr19 15272396 15272396 T C NOTCH3 Nonsynonymous SNV R2015G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 286930 chr2 241858252 241858252 G A rs780663495 CROCC2 Nonsynonymous SNV R63H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 286931 chr10 27436430 27436430 G C rs143911158 YME1L1 Nonsynonymous SNV I112M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.148 286932 chr14 105353788 105353788 C T rs769320023 CEP170B Nonsynonymous SNV T1001I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.696 286933 chr17 78318794 78318794 G C RNF213 Nonsynonymous SNV R2220P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.09 286934 chr10 27537249 27537249 A C rs79988883 LRRC37A6P 0 0 0.01 0 0 0 0 3 0 0 0 0 1.193 286935 chr10 27537294 27537294 G A rs111833757 LRRC37A6P 0 0 0.01 0 0 0 0 3 0 0 0 0 2.871 286936 chr10 27537670 27537670 T C rs75591085 LRRC37A6P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.547 286937 chr10 27537746 27537746 T C rs112425733 LRRC37A6P 0 0 0.01 0 0 0 0 3 0 0 0 0 0.698 286938 chr14 105996050 105996061 GCCGCCGCCGCC - rs782550248 TMEM121 P296_P299del 0.001 0 0 0 1 0 0 0 0 0 0 0 286939 chr19 17759246 17759246 G A rs1042558830 UNC13A Synonymous SNV L604L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 286940 chr19 17837918 17837918 G T rs111421885 MAP1S Synonymous SNV P549P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.911 286941 chr15 33999191 33999191 C T rs886361844 RYR3 Synonymous SNV V2185V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 286942 chr15 35838477 35838477 C T rs572572062 DPH6-DT 0.001 0 0 0 1 0 0 0 0 0 0 0 9.903 286943 chr18 580812 580812 A T rs772991080 CETN1 Nonsynonymous SNV E135V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 286944 chr18 644980 644980 T C CLUL1 Nonsynonymous SNV L427P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 286945 chr18 2909812 2909812 G C EMILIN2 Nonsynonymous SNV S940T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 286946 chr17 902099 902099 C T rs142757997 TIMM22 Nonsynonymous SNV R107C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 286947 chr17 2923826 2923826 G A rs750434688 RAP1GAP2 Nonsynonymous SNV R548H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 286948 chr19 3179828 3179828 C T rs147906636 S1PR4 Synonymous SNV S346S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.248 286949 chr2 61633256 61633256 G A rs144420483 USP34 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.452 286950 chr14 103059504 103059504 C T rs778957818 RCOR1 Nonsynonymous SNV S94L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 286951 chr17 4436716 4436716 G A rs369087006 SPNS2 Nonsynonymous SNV V423I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.29 286952 chr17 4461366 4461366 - TG rs763926571 GGT6 Frameshift insertion E444Qfs*33 0 0.003 0 0 0 1 0 0 0 0 0 0 286953 chr18 33607266 33607266 T A RPRD1A Nonsynonymous SNV D165V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 286954 chr19 55966414 55966414 G C ISOC2 Nonsynonymous SNV T90S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 286955 chr17 5290401 5290401 G C rs770869902 NUP88 Nonsynonymous SNV S665C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 286956 chr17 6901890 6901890 G C rs114985038 ALOX12 Nonsynonymous SNV D134H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 286957 chr19 37118219 37118219 C T rs779591609 ZNF382 Nonsynonymous SNV R473C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 286958 chr17 7400704 7400704 C T rs140036552 POLR2A Synonymous SNV I283I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.87 286959 chr18 59195294 59195294 A G rs35923922 CDH20 Nonsynonymous SNV Q371R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.16 286960 chr17 7796772 7796772 T C rs903555111 CHD3 Synonymous SNV A285A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.98 286961 chr15 74836645 74836645 A G ARID3B Nonsynonymous SNV H123R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.475 286962 chr18 77456019 77456019 G A rs769613438 CTDP1 Synonymous SNV T28T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.13 286963 chr15 44964635 44964635 G A rs200604272 PATL2 Nonsynonymous SNV P156S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.6 286964 chr15 51350166 51350166 G C rs374933007 TNFAIP8L3 Nonsynonymous SNV T176S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 286965 chr11 107431514 107431514 C T rs757509230 ALKBH8 Nonsynonymous SNV E39K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.52 286966 chr19 1820285 1820285 G C rs780672789 REXO1 Nonsynonymous SNV S835C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 26 286967 chr11 111746056 111746056 T C rs77080347 FDXACB1 Nonsynonymous SNV M489V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 286968 chr15 86182662 86182662 G A rs114836739 AKAP13 Nonsynonymous SNV A47T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 286969 chr15 89400643 89400643 G A rs372339423 ACAN Synonymous SNV L1609L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.285 286970 chr11 118352705 118352705 G A KMT2A Nonsynonymous SNV V1304I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 286971 chr15 90616399 90616399 T A ZNF710 Nonsynonymous SNV Y519N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 286972 chr19 45593419 45593419 G - GEMIN7 G17Afs*18 0 0.003 0 0 0 1 0 0 0 0 0 0 286973 chr15 91030238 91030238 G T rs138905294 IQGAP1 Synonymous SNV T1359T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 286974 chr19 5711795 5711795 G A LONP1 Nonsynonymous SNV T90M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 286975 chr11 124482980 124482980 C A PANX3 Nonsynonymous SNV P96T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 286976 chr15 101445745 101445745 C T rs187280010 ALDH1A3 Synonymous SNV F255F 0.002 0 0 0 2 0 0 0 0 0 0 0 15.7 286977 chr11 124824755 124824755 G A rs201713407 CCDC15 Nonsynonymous SNV G43R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 286978 chr17 39134543 39134543 G T KRT40 Nonsynonymous SNV S401Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 286979 chr17 39135075 39135075 G A KRT40 Synonymous SNV L393L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.7 286980 chr16 5083769 5083769 C T rs368714284 NAGPA-AS1 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.818 286981 chr19 8137981 8137981 C T rs758436991 FBN3 Nonsynonymous SNV G2635S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 286982 chr19 48967544 48967544 T C rs562175440 KCNJ14 Nonsynonymous SNV I274T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 286983 chr17 39316506 39316506 G A rs772417468 KRTAP4-4 Synonymous SNV C146C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.118 286984 chr16 840218 840218 G C CHTF18 Synonymous SNV L216L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.273 286985 chr19 8994453 8994453 C T MUC16 Synonymous SNV R13813R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.64 286986 chr16 1272315 1272315 G A rs199779684 TPSG1 Nonsynonymous SNV R180W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 286987 chr1 114214361 114214361 C G MAGI3 Nonsynonymous SNV H941D 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 286988 chr19 9046131 9046131 C A rs370327850 MUC16 Nonsynonymous SNV D11834Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.744 286989 chr16 1717389 1717389 A C rs371149285 CRAMP1 Synonymous SNV A1030A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 286990 chr19 9060416 9060416 G A rs61747881 MUC16 Synonymous SNV S9010S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.067 286991 chr19 9061098 9061098 G C rs141593605 MUC16 Nonsynonymous SNV A8783G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.701 286992 chr19 9064376 9064376 C T rs150330701 MUC16 Synonymous SNV P7690P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.34 286993 chr16 2035925 2035925 C A rs758350837 GFER Nonsynonymous SNV H172N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.22 286994 chr3 9974652 9974652 G T rs755109180 IL17RC Nonsynonymous SNV R460L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 286995 chr16 2230105 2230105 G A rs544331594 CASKIN1 Synonymous SNV G1088G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 286996 chr17 45786499 45786499 A G rs769442613 TBKBP1 Nonsynonymous SNV E467G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 286997 chr19 9091104 9091104 G A rs138319477 MUC16 Synonymous SNV F237F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.388 286998 chr16 2813639 2813639 C G rs147008176 SRRM2 Nonsynonymous SNV A1037G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 286999 chr16 3050306 3050306 G A rs73484372 LOC101929613 0.001 0 0 0 1 0 0 0 0 0 0 0 3.151 287000 chr16 3050796 3050796 G C rs539880055 LOC101929613 0.001 0 0 0 1 0 0 0 0 0 0 0 0.669 287001 chr16 3117426 3117426 C T rs55756224 IL32 Nonsynonymous SNV L22F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.3 287002 chr16 3254803 3254803 A G rs112181014 OR1F1 Nonsynonymous SNV K186R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 287003 chr16 3254872 3254872 C A rs79515625 OR1F1 Nonsynonymous SNV T209N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 287004 chr16 3361922 3361922 A G rs17136315 ZNF75A Nonsynonymous SNV K193R 0.001 0 0 0 1 0 0 0 0 0 0 0 16 287005 chr17 48556254 48556254 C A rs1039258623 RSAD1 Synonymous SNV L3L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 287006 chr3 167747770 167747770 A C rs754167418 GOLIM4 Nonsynonymous SNV L383V 0.003 0 0 0 4 0 0 0 0 0 0 0 24 287007 chr11 32956349 32956349 A G QSER1 Nonsynonymous SNV D1182G 0 0 0.003 0 0 0 0 1 0 0 0 0 12 287008 chr17 48596059 48596059 G A rs200374790 MYCBPAP Nonsynonymous SNV R224Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 287009 chr16 3614059 3614059 C A rs77715106 NLRC3 Nonsynonymous SNV E293D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.277 287010 chr16 3614080 3614080 G C rs116433328 NLRC3 Nonsynonymous SNV I286M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.73 287011 chr16 3633105 3633105 A T rs75182789 SLX4 Nonsynonymous SNV S1716T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.3 287012 chr19 10655763 10655763 G A ATG4D Synonymous SNV Q87Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.265 287013 chr16 3639039 3639039 C T rs78770603 SLX4 Nonsynonymous SNV G1534S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.016 287014 chr16 3639301 3639301 G A rs77718962 SLX4 Synonymous SNV T1446T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.488 287015 chr16 3640753 3640753 G A rs202053414 SLX4 Synonymous SNV S962S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.486 287016 chr16 3646180 3646180 C T rs1056085 SLX4 Nonsynonymous SNV G633D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.042 287017 chr16 3705511 3705511 A C rs140187838 DNASE1 Nonsynonymous SNV Y46S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 287018 chr16 3707724 3707724 C T rs201517407 DNASE1 Synonymous SNV I236I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 287019 chr19 11114016 11114016 G A rs754024829 SMARCA4 Synonymous SNV G648G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.188 287020 chr16 4432462 4432462 C T rs370628475 VASN Synonymous SNV N528N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.787 287021 chr17 56345181 56345181 C T rs768511505 LPO Synonymous SNV N572N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 287022 chr17 56439931 56439931 G A rs748533737 RNF43 Nonsynonymous SNV R94W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 287023 chr3 183210396 183210396 C T rs754340996 KLHL6 Nonsynonymous SNV D484N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 287024 chr19 12186643 12186643 T C rs758209985 ZNF844 Synonymous SNV Y236Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 287025 chr11 45248749 45248749 G A rs769423072 PRDM11 Nonsynonymous SNV R858Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 287026 chr11 4566923 4566923 G A rs193125511 OR52M1 Nonsynonymous SNV R168Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 287027 chr19 12758274 12758274 C T rs765269491 MAN2B1 Nonsynonymous SNV V935I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 287028 chr11 47189480 47189480 G A rs758299261 ARFGAP2 Synonymous SNV S367S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 287029 chr16 10567790 10567790 A T rs945115514 ATF7IP2 Nonsynonymous SNV K498M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 287030 chr11 47261673 47261673 G A rs147453428 ACP2 Synonymous SNV H359H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.631 287031 chr19 14165930 14165930 G A PALM3 Nonsynonymous SNV P119L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.124 287032 chr1 152777874 152777874 T A rs747352181 LCE1C Synonymous SNV P27P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 287033 chr1 152777877 152777877 G A rs755320469 LCE1C Synonymous SNV T26T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.438 287034 chr16 11136204 11136204 A C rs201373207 CLEC16A Nonsynonymous SNV H567P 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 287035 chr16 15719355 15719355 C T rs748037890 MARF1 Synonymous SNV K608K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 287036 chr16 15719424 15719424 A G rs142138304 MARF1 Synonymous SNV N585N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.767 287037 chr16 15785155 15785155 A C rs910280510 NDE1 Nonsynonymous SNV L226F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 287038 chr19 15121969 15121969 T C rs777115997 CCDC105 Nonsynonymous SNV L111P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 287039 chr16 2979785 2979785 C T rs764034113 FLYWCH1 Synonymous SNV P33P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.135 287040 chr19 15651462 15651462 C T rs747568295 CYP4F22 Synonymous SNV A291A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.33 287041 chr16 3707206 3707206 G C rs142644209 DNASE1 Nonsynonymous SNV D190H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 287042 chr16 23456398 23456398 C T rs149163316 COG7 Nonsynonymous SNV A136T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 287043 chr17 72846727 72846727 C T rs376295025 GRIN2C Synonymous SNV V431V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.957 287044 chr1 158911835 158911835 C T rs138017536 PYHIN1 Synonymous SNV I216I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 9.968 287045 chr19 19675794 19675794 C T rs147715000 PBX4 Synonymous SNV T291T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.907 287046 chr19 23039922 23039922 G A rs551407957 ZNF723 Nonsynonymous SNV V77M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.922 287047 chr1 161021121 161021121 - GGCCAG rs769361192 ARHGAP30 G290_L291insPG 0 0.003 0 2 0 1 0.005 0 0 0 0 0 287048 chr19 36271704 36271704 C T rs781580704 ARHGAP33 Nonsynonymous SNV S136L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 287049 chr16 70187297 70187297 G A rs751253518 PDPR Nonsynonymous SNV A586T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 287050 chr1 171678833 171678833 C T rs754485864 VAMP4 Nonsynonymous SNV R105Q 0 0 0 2 0 0 0.005 0 0 0 0 0 24 287051 chr17 80049192 80049192 G C rs372399410 FASN Synonymous SNV P466P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.214 287052 chr17 80194707 80194707 G A rs370695704 SLC16A3 Nonsynonymous SNV R109Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.57 287053 chr16 81069601 81069601 C T rs182059505 ATMIN Synonymous SNV P42P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 287054 chr16 81094885 81094885 T C rs9930623 C16orf46 Nonsynonymous SNV K357E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.017 287055 chr16 81891928 81891928 C T rs61755444 PLCG2 Nonsynonymous SNV A133V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 287056 chr1 181684517 181684517 C A rs35265801 CACNA1E Synonymous SNV S405S 0 0 0 2 0 0 0.005 0 0 0 0 0 14.85 287057 chr1 182517562 182517562 T - rs776524207 RGSL1 L927Rfs*9 0 0 0 2 0 0 0.005 0 0 0 0 0 287058 chr16 84493290 84493290 A C ATP2C2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.774 287059 chr16 85743895 85743895 C T C16orf74 Nonsynonymous SNV S16N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 287060 chr19 42796755 42796755 C T rs755266332 CIC Synonymous SNV G1071G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.04 287061 chr16 70390802 70390802 C T DDX19A Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 287062 chr18 28710784 28710784 G A rs763397332 DSC1 Synonymous SNV H835H 0 0.008 0 0 0 3 0 0 0 0 0 0 21 287063 chr3 73523655 73523655 A G rs1051636832 PDZRN3 Nonsynonymous SNV F12S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.645 287064 chr19 44571381 44571381 G A rs774663509 ZNF223 Nonsynonymous SNV R467K 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 287065 chr18 29625680 29625680 G A rs79205763 RNF125 Synonymous SNV S163S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 4.117 287066 chr3 97592970 97592970 A C rs17373919 CRYBG3 Nonsynonymous SNV K978Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 287067 chr11 64545817 64545817 G A rs778951861 SF1 Synonymous SNV P16P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 287068 chr16 89293809 89293809 G C ZNF778 Synonymous SNV G343G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.117 287069 chr16 89628763 89628763 C T rs773959285 RPL13 Synonymous SNV A147A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 287070 chr16 89655119 89655119 C T rs145109453 CPNE7 Nonsynonymous SNV R322W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 287071 chr1 203452536 203452536 G A rs766710985 PRELP Nonsynonymous SNV R75H 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 287072 chr11 65265819 65265819 A T rs754347002 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.882 287073 chr11 65305564 65305564 C T rs201119677 SCYL1 Nonsynonymous SNV R703W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 287074 chr17 1377933 1377933 C T rs748273564 MYO1C Nonsynonymous SNV E590K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 287075 chr17 1540263 1540263 G T SCARF1 Synonymous SNV L486L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.473 287076 chr17 1540264 1540264 A T SCARF1 Nonsynonymous SNV L486H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 287077 chr17 1648498 1648498 G A SERPINF2 Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 287078 chr1 207244882 207244882 C T rs775425249 PFKFB2 Synonymous SNV N438N 0 0 0 2 0 0 0.005 0 0 0 0 0 16.34 287079 chr17 2595684 2595684 G C rs767977011 CLUH Nonsynonymous SNV H1177Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 287080 chr1 208391222 208391222 G A rs765411989 PLXNA2 Nonsynonymous SNV R16C 0 0 0 2 0 0 0.005 0 0 0 0 0 11.31 287081 chr11 66626503 66626503 G A rs188956583 LRFN4 Nonsynonymous SNV D430N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 287082 chr4 119951234 119951234 T C rs372848851 SYNPO2 Nonsynonymous SNV V435A 0.004 0 0.003 0 5 0 0 1 0 0 0 0 0.507 287083 chr11 68377483 68377483 C T rs148447188 PPP6R3 Synonymous SNV P734P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.33 287084 chr18 72124378 72124378 G T rs755765487 DIPK1C Synonymous SNV A39A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 287085 chr11 73106278 73106278 G A RELT Nonsynonymous SNV S398N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 287086 chr16 89598913 89598913 G A rs771782004 SPG7 Nonsynonymous SNV R398Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 287087 chr1 223566928 223566928 A G rs752166446 CCDC185 Synonymous SNV G37G 0 0 0 3 0 0 0.008 0 0 0 0 0 3.538 287088 chr19 52196848 52196848 C T rs749086736 SPACA6 Synonymous SNV P23P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 287089 chr11 7960425 7960425 G A rs200600381 OR10A3 Nonsynonymous SNV L215F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 287090 chr11 823839 823839 C T rs141190104 PNPLA2 Synonymous SNV P301P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.48 287091 chr17 7661904 7661904 C T rs772296416 DNAH2 Synonymous SNV L715L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 287092 chr19 1483459 1483459 G A rs771305476 PCSK4 Synonymous SNV P465P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.529 287093 chr19 1854543 1854543 G A rs779337752 KLF16 Nonsynonymous SNV T225I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.2 287094 chr11 8933072 8933072 C T rs142557297 AKIP1 Synonymous SNV L26L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 287095 chr17 8216517 8216517 C T rs764749566 ARHGEF15 Synonymous SNV F293F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.371 287096 chr11 9305051 9305051 T C rs78813996 TMEM41B Nonsynonymous SNV I266V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.597 287097 chr1 231362542 231362542 C T rs773321892 C1orf131 Synonymous SNV K211K 0 0 0 2 0 0 0.005 0 0 0 0 0 16.74 287098 chr17 15162486 15162486 C T rs750000952 PMP22 Nonsynonymous SNV A35T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.866 287099 chr19 3964295 3964295 T C rs371469059 DAPK3 Nonsynonymous SNV K167R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.636 287100 chr17 18028546 18028546 G A rs748108031 MYO15A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 287101 chr4 186583320 186583320 G A rs147082201 SORBS2 Nonsynonymous SNV S80L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 287102 chr19 4839338 4839338 G C rs780194423 PLIN3 Nonsynonymous SNV R390G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 287103 chr12 302534 302534 C T rs959094510 SLC6A12 Nonsynonymous SNV R480H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 287104 chr19 5719832 5719832 C G rs764263075 LONP1 Synonymous SNV G104G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 287105 chr1 24194687 24194687 C T FUCA1 Synonymous SNV R30R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 287106 chr12 110874480 110874480 G T rs11553918 ARPC3 Synonymous SNV S87S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 287107 chr12 111336891 111336891 C G CCDC63 Nonsynonymous SNV T356R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 287108 chr1 160121873 160121873 C T rs143691169 ATP1A4 Stop gain Q15X 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 287109 chr12 11139458 11139458 A G rs375661665 TAS2R50 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 287110 chr12 112167736 112167736 C A rs761176157 ACAD10 Nonsynonymous SNV T457N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 287111 chr17 27994214 27994214 C T SSH2 Synonymous SNV R252R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 287112 chr12 113614665 113614665 C T rs375472452 DDX54 Synonymous SNV V244V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.24 287113 chr17 30325920 30325920 T C SUZ12 Synonymous SNV N683N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 287114 chr17 30692366 30692366 C G ZNF207 Nonsynonymous SNV P214A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 287115 chr19 7810767 7810767 G A rs146082308 CD209 Nonsynonymous SNV R85W 0 0.003 0 0 0 1 0 0 0 0 0 0 16.09 287116 chr4 39226590 39226590 C T rs200692490 WDR19 Synonymous SNV P362P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.58 287117 chr19 8536256 8536256 C T rs151221154 HNRNPM Synonymous SNV P194P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.97 287118 chr19 8550572 8550572 C T rs76937953 HNRNPM Synonymous SNV G285G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.15 287119 chr1 168054818 168054818 T C GPR161 Nonsynonymous SNV Q436R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 287120 chr12 133146981 133146981 G A rs760667447 FBRSL1 Synonymous SNV P356P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 287121 chr12 133306558 133306558 C T rs202225435 ANKLE2 Synonymous SNV S730S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.46 287122 chr12 133378385 133378385 C T rs773940644 GOLGA3 Nonsynonymous SNV V590I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 287123 chr19 9068085 9068085 G A rs201728641 MUC16 Nonsynonymous SNV A6454V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.459 287124 chr1 26586136 26586136 G A rs185173348 CEP85 Nonsynonymous SNV R344H 0 0 0 3 0 0 0.008 0 0 0 0 0 34 287125 chr20 2637134 2637134 C T rs151080095 NOP56 Synonymous SNV G366G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.55 287126 chr20 3145636 3145636 C A LZTS3 Nonsynonymous SNV D496Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 287127 chr12 30882208 30882208 C T rs138797190 CAPRIN2 Nonsynonymous SNV E53K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 287128 chr20 18022366 18022366 A T rs765928290 OVOL2 Nonsynonymous SNV F108Y 0 0.003 0 0 0 1 0 0 0 0 0 0 16.56 287129 chr17 36719667 36719667 G A rs375008092 SRCIN1 Nonsynonymous SNV A211V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 287130 chr20 39990777 39990777 C T rs373870684 EMILIN3 Nonsynonymous SNV E478K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.2 287131 chr1 203740535 203740535 G A rs768539475 LAX1 Synonymous SNV L64L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.732 287132 chr20 43851470 43851470 T A rs140981883 SEMG2 Stop gain Y399X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 287133 chr12 53566409 53566409 C T rs148549862 CSAD Synonymous SNV E50E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.53 287134 chr20 45239217 45239217 A G rs774468517 SLC13A3 Nonsynonymous SNV F137L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 287135 chr1 54605319 54605319 - G CDCP2 Frameshift insertion M409Hfs*45 0 0 0 1 0 0 0.003 0 0 0 0 0 287136 chr12 57033973 57033973 T C rs372401715 ATP5F1B Nonsynonymous SNV I360V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.901 287137 chr17 62018299 62018299 G A rs745441690 SCN4A Synonymous SNV G1781G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.061 287138 chr12 57637926 57637926 G A rs146430404 STAC3 Nonsynonymous SNV T128M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.1 287139 chr19 17947960 17947960 G A rs201482851 JAK3 Synonymous SNV H588H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.61 287140 chr12 58001003 58001003 C T rs3741417 DTX3 Synonymous SNV R122R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.96 287141 chr5 127729040 127729040 A G rs769840338 FBN2 Nonsynonymous SNV M418T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.658 287142 chr12 58013915 58013915 C G rs113984267 LOC101927583 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.045 287143 chr1 5935102 5935102 C T rs12084067 NPHP4 Nonsynonymous SNV R447Q 0 0 0 3 0 0 0.008 0 0 0 0 0 Benign/Likely benign 29 287144 chr12 58016603 58016618 GCTGCCCAGGATTCTG - rs546541926 SLC26A10 P277Tfs*138 0.001 0 0.003 0 1 0 0 1 0 0 0 0 287145 chr12 58016690 58016690 G C rs111988600 SLC26A10 Nonsynonymous SNV K304N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28 287146 chr12 58022618 58022618 C T rs147301375 B4GALNT1 Nonsynonymous SNV A239T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 1.945 287147 chr12 58120988 58120988 G C rs145154021 AGAP2 Synonymous SNV R679R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.811 287148 chr20 56227323 56227323 G A rs142295639 PMEPA1 Nonsynonymous SNV T189M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 287149 chr19 18980958 18980958 G A rs755093676 GDF1 Synonymous SNV P53P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Likely benign 4.145 287150 chr5 132161024 132161024 T G rs769611507 SHROOM1 Nonsynonymous SNV D270A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 287151 chr12 62938729 62938729 A G rs139761408 MON2 Nonsynonymous SNV T840A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.7 287152 chr19 19764796 19764796 G A rs367648364 ATP13A1 Synonymous SNV P657P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.64 287153 chr19 20026153 20026153 C T ZNF93 Nonsynonymous SNV T23I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.6 287154 chr5 13868039 13868039 A G rs749416187 DNAH5 Synonymous SNV V1299V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.152 287155 chr19 31040035 31040035 T G rs138018539 ZNF536 Nonsynonymous SNV M1170R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 287156 chr19 33092984 33092984 A C rs139575863 ANKRD27 Nonsynonymous SNV S902A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.334 287157 chr19 33183157 33183157 C T NUDT19 Synonymous SNV S97S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 287158 chr17 74083794 74083794 A C EXOC7 Nonsynonymous SNV L416R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 287159 chr17 74099741 74099741 C T EXOC7 Synonymous SNV R11R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.69 287160 chr1 228289822 228289822 C T rs886390091 C1orf35 Synonymous SNV S164S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 287161 chr1 228473840 228473840 C T rs374485404 OBSCN Synonymous SNV A3022A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 287162 chr1 228525066 228525066 C T rs375781861 OBSCN Synonymous SNV D5594D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.675 287163 chr21 31661731 31661731 C T rs749817522 KRTAP25-1 Synonymous SNV P26P 0 0.003 0.007 0 0 1 0 2 0 0 0 0 10.47 287164 chr13 103389656 103389656 A G rs201631674 CCDC168 Nonsynonymous SNV L4464S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.234 287165 chr21 38520887 38520887 A G rs751573826 TTC3 Synonymous SNV E376E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.008 287166 chr13 103524687 103524687 G A rs146344855 BIVM-ERCC5, ERCC5 Nonsynonymous SNV V940M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 287167 chr5 149441379 149441379 C G CSF1R Nonsynonymous SNV E554Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 287168 chr13 111992223 111992223 G A rs138550829 TEX29 Synonymous SNV V61V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.304 287169 chr21 43543260 43543260 C T rs754587939 UMODL1 Synonymous SNV S1105S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.679 287170 chr13 114774873 114774873 G A rs755498753 RASA3 Nonsynonymous SNV A521V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 287171 chr21 44846045 44846045 G C SIK1, SIK1B Nonsynonymous SNV S5W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 287172 chr17 79792704 79792704 - T rs756031327 PPP1R27 Frameshift insertion D42Efs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 287173 chr17 74738356 74738356 G A MFSD11 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 287174 chr13 28494610 28494610 C G PDX1 Nonsynonymous SNV P112R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 287175 chr1 247267403 247267403 G A rs748120661 ZNF669 Synonymous SNV N33N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.165 287176 chr5 158630642 158630642 T - rs74770414 RNF145 K25Rfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 287177 chr19 43982268 43982268 C T rs73043604 PHLDB3 Synonymous SNV K573K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 287178 chr20 18022282 18022282 C T rs368800012 OVOL2 Nonsynonymous SNV R4H 0 0 0 3 0 0 0.008 0 0 0 0 0 35 287179 chr12 124171538 124171538 C T TCTN2 Synonymous SNV P239P 0 0 0 2 0 0 0.005 0 0 0 0 0 14.85 287180 chr18 8253288 8253288 G A rs150784148 PTPRM Nonsynonymous SNV R864Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 287181 chr19 44660822 44660822 A G rs201819081 ZNF234 Nonsynonymous SNV H218R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.089 287182 chr13 49794555 49794555 C T MLNR Nonsynonymous SNV R28C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 287183 chr20 2467289 2467289 G C ZNF343 Nonsynonymous SNV T142R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.188 287184 chr19 45157250 45157250 G A rs148412277 PVR Nonsynonymous SNV R269H 0 0.003 0 0 0 1 0 0 0 0 0 0 17.5 287185 chr13 50115006 50115006 A T rs756073261 RCBTB1 Synonymous SNV T487T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.402 287186 chr19 45381496 45381496 G A rs1137241 NECTIN2 Synonymous SNV S353S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 287187 chr18 21425054 21425054 A C LAMA3 Nonsynonymous SNV I1229L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 287188 chr13 77527743 77527743 T G rs192457026 ACOD1 Nonsynonymous SNV S61R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 287189 chr13 77699583 77699583 T C rs943242118 MYCBP2 Synonymous SNV T2635T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.562 287190 chr22 24982125 24982125 C T rs201525843 LRRC75B Nonsynonymous SNV R226H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 287191 chr20 31671555 31671555 C T rs745539242 BPIFB4 Synonymous SNV L184L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.72 287192 chr1 34090775 34090775 C G rs536995686 CSMD2 Synonymous SNV S1792S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 287193 chr19 48698703 48698703 G A ZSWIM9 Nonsynonymous SNV G461E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.63 287194 chr1 35226924 35226924 C G rs142035257 GJB4 Nonsynonymous SNV I23M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 287195 chr14 103568954 103568954 G A rs768949981 EXOC3L4 Synonymous SNV Q298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.195 287196 chr1 36785614 36785614 C A SH3D21 Synonymous SNV V339V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 287197 chr19 49360724 49360724 C T rs764763077 PLEKHA4 Synonymous SNV Q334Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.889 287198 chr18 55309224 55309224 G A rs145010751 LOC100505549 0.001 0 0 0 1 0 0 0 0 0 0 0 4.952 287199 chr20 43108725 43108725 C T rs778082516 TTPAL Nonsynonymous SNV P29L 0 0 0 3 0 0 0.008 0 0 0 0 0 23.6 287200 chr22 37964520 37964520 T G rs778048974 CDC42EP1 Nonsynonymous SNV V290G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 287201 chr14 20859193 20859193 G A rs140689511 TEP1 Synonymous SNV D612D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.797 287202 chr1 43893724 43893724 G A rs370863026 SZT2 Nonsynonymous SNV R1228Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.3 287203 chr22 38565277 38565277 G A rs370151752 PLA2G6 Nonsynonymous SNV R53C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 287204 chr18 33718379 33718379 G C ELP2 Nonsynonymous SNV K145N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 287205 chr18 72113998 72113998 C T rs8082945 DIPK1C Nonsynonymous SNV R240Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.565 287206 chr14 23899811 23899811 G A rs368699342 MYH7 Synonymous SNV T319T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.668 287207 chr14 23938935 23938935 T C rs368631066 NGDN Nonsynonymous SNV L4P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.841 287208 chr20 60885806 60885806 C T rs192231400 LAMA5 Nonsynonymous SNV R3454Q 0 0 0 2 0 0 0.005 0 0 0 0 0 14.44 287209 chr20 60889929 60889929 C A rs140483668 LAMA5 Nonsynonymous SNV A2708S 0 0 0 2 0 0 0.005 0 0 0 0 0 15.61 287210 chr18 56936501 56936501 C A rs916632882 RAX Nonsynonymous SNV S259I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 287211 chr22 50944194 50944194 G A rs371389905 LMF2 Synonymous SNV N250N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.882 287212 chr19 1295808 1295808 C T rs746518130 EFNA2 Synonymous SNV P135P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 287213 chr20 7866484 7866484 C G HAO1 Nonsynonymous SNV A281P 0 0 0 2 0 0 0.005 0 0 0 0 0 32 287214 chr19 55175856 55175856 C T rs148591308 LILRB4 Nonsynonymous SNV T221I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.271 287215 chr19 55418085 55418085 T C rs144737108 NCR1 Nonsynonymous SNV M92T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 287216 chr19 55439074 55439074 C T NLRP7 Synonymous SNV K960K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.54 287217 chr21 18966556 18966556 T C rs750514745 BTG3 Nonsynonymous SNV Y205C 0 0 0 3 0 0 0.008 0 0 0 0 0 23.5 287218 chr6 53516779 53516779 C T rs3799261 KLHL31 Nonsynonymous SNV A508T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 287219 chr21 31744082 31744082 G T rs145206728 KRTAP13-2 Synonymous SNV T150T 0 0 0 3 0 0 0.008 0 0 0 0 0 6.028 287220 chr21 31744253 31744253 C T rs115248873 KRTAP13-2 Synonymous SNV K93K 0 0 0 3 0 0 0.008 0 0 0 0 0 14.11 287221 chrX 69652788 69652788 C G GDPD2 Nonsynonymous SNV T443S 0 0.005 0 0 0 2 0 0 0 1 0 0 10.99 287222 chr21 31964993 31964993 G T rs200489704 KRTAP6-3 Nonsynonymous SNV D77Y 0 0 0 3 0 0 0.008 0 0 0 0 0 1.641 287223 chr21 31986081 31986081 C A rs115002444 KRTAP6-1 Nonsynonymous SNV G48V 0 0 0 3 0 0 0.008 0 0 0 0 0 22.8 287224 chr19 56006113 56006113 C G rs529640963 SSC5D Synonymous SNV A450A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.887 287225 chr19 56011545 56011545 C G rs61747385 SSC5D Nonsynonymous SNV Q690E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.383 287226 chrX 86067863 86067863 G C rs148179765 DACH2 Nonsynonymous SNV E402D 0 0.005 0 0 0 2 0 0 0 1 0 0 11.71 287227 chr19 56104728 56104728 G A rs538296469 FIZ1 Synonymous SNV A193A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.672 287228 chr19 56109079 56109079 G A rs142850308 FIZ1 Synonymous SNV H51H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.5 287229 chr19 56160579 56160579 G A rs374002589 CCDC106 Nonsynonymous SNV D14N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.96 287230 chr21 37408464 37408464 A C SETD4 Nonsynonymous SNV L425R 0 0 0 3 0 0 0.008 0 0 0 0 0 25.9 287231 chr19 56599626 56599626 G A rs144576084 ZNF787 Synonymous SNV D305D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.273 287232 chr19 56599871 56599871 C T rs543514561 ZNF787 Nonsynonymous SNV E224K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.06 287233 chr6 87966127 87966129 CTC - rs575913628 ZNF292 P928del 0.001 0 0 0 1 0 0 0 0 0 0 0 287234 chr19 2917921 2917921 G A rs757710494 ZNF57 Synonymous SNV T402T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 287235 chr19 3148719 3148719 C T GNA15 Synonymous SNV A92A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 287236 chr6 137323395 137323395 T C rs143552862 IL20RA Nonsynonymous SNV K210R 0.002 0 0 0 2 0 0 0 0 0 0 0 10.94 287237 chr1 94528820 94528820 T A ABCA4 Nonsynonymous SNV Q536H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.129 287238 chr10 106166450 106166450 A G CFAP58 Nonsynonymous SNV S719G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 287239 chr19 4817657 4817657 C T rs151272128 TICAM1 Nonsynonymous SNV G245S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 6.701 287240 chr10 117061544 117061544 A C rs115522651 ATRNL1 Nonsynonymous SNV T937P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 287241 chr19 7618836 7618836 - T rs757382473 PNPLA6 Frameshift insertion V780Cfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 287242 chr6 16327117 16327117 G A rs759173957 ATXN1 Synonymous SNV A475A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 287243 chr15 40574057 40574057 C G rs762509851 ANKRD63 Nonsynonymous SNV R244P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 287244 chr19 9089374 9089374 T G rs780622698 MUC16 Nonsynonymous SNV E814A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.139 287245 chr22 21989920 21989920 C T CCDC116 Nonsynonymous SNV T523I 0 0 0 3 0 0 0.008 0 0 0 0 0 5.385 287246 chr15 41226792 41226792 G A rs374507826 DLL4 Synonymous SNV T299T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.08 287247 chr6 168709067 168709067 C T rs541840837 DACT2 Nonsynonymous SNV R287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.869 287248 chr19 8808430 8808430 C A rs139329295 ACTL9 Nonsynonymous SNV V208F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 287249 chr10 126714845 126714845 C T rs372056793 CTBP2 Nonsynonymous SNV R495H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 287250 chr6 17463238 17463238 G A rs759778551 CAP2 Synonymous SNV V78V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 287251 chr22 23613735 23613735 G A rs147105969 BCR Nonsynonymous SNV S626N 0 0 0.003 2 0 0 0.005 1 0 0 0 0 25.6 287252 chr22 24621521 24621521 G T rs73167566 GGT5 Synonymous SNV P366P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.153 287253 chr10 129904903 129904903 T A MKI67 Nonsynonymous SNV K1374I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 287254 chr19 11447887 11447887 G A rs201056318 RAB3D Synonymous SNV T63T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 287255 chr19 11462586 11462586 A G rs762214657 CCDC159 Nonsynonymous SNV K143E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 287256 chr10 132915128 132915128 G A rs148828294 TCERG1L Synonymous SNV P443P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.569 287257 chr15 43699599 43699599 G A rs751830186 TP53BP1 Synonymous SNV H1970H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.623 287258 chr22 28194864 28194864 G C MN1 Synonymous SNV L556L 0 0 0 2 0 0 0.005 0 0 0 0 0 1.542 287259 chr15 45388191 45388191 G A rs369478399 DUOX2 Synonymous SNV I1305I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 287260 chr15 48063909 48063909 C G SEMA6D Nonsynonymous SNV P988R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 287261 chr20 31434538 31434538 G A rs778221336 MAPRE1 Nonsynonymous SNV V238I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.83 287262 chr19 15052441 15052441 G C rs371582125 OR7C2 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.848 287263 chr19 15052603 15052603 - T OR7C2 Frameshift insertion I105Hfs*17 0.001 0 0 1 1 0 0.003 0 0 0 0 0 287264 chr15 55931967 55931967 T C PRTG Nonsynonymous SNV N733D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 287265 chr19 15754816 15754816 C T rs772217057 CYP4F3 Nonsynonymous SNV R100C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.3 287266 chr6 36287200 36287200 A G rs778232834 BNIP5 Nonsynonymous SNV M619T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.697 287267 chr19 10367457 10367457 G C rs373664758 MRPL4 Nonsynonymous SNV G134A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 287268 chr10 18823064 18823064 G A CACNB2 Nonsynonymous SNV V317I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 287269 chr10 18931414 18931414 A G rs148057063 NSUN6 Nonsynonymous SNV I49T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.07 287270 chr22 37387547 37387547 C A TEX33 Nonsynonymous SNV W240C 0 0 0 2 0 0 0.005 0 0 0 0 0 33 287271 chr19 17049243 17049243 G A rs200400599 CPAMD8 Nonsynonymous SNV P936L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 287272 chr10 27322190 27322190 C A rs757491536 ANKRD26 Nonsynonymous SNV Q1256H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 287273 chr15 65688138 65688138 A G rs78024095 IGDCC4 Nonsynonymous SNV M454T 0 0 0.007 0 0 0 0 2 0 0 0 0 15.74 287274 chr15 65968787 65968787 C T rs11858075 DENND4A Synonymous SNV L1411L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.27 287275 chr19 12939746 12939746 A C rs550909877 RTBDN Nonsynonymous SNV M64R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.713 287276 chr15 66793334 66793334 T C rs143655725 RPL4 Synonymous SNV E262E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.162 287277 chr15 66832471 66832471 G C ZWILCH Nonsynonymous SNV S423T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 287278 chr22 39883514 39883514 C T rs148816423 MGAT3 Synonymous SNV A54A 0 0 0.003 2 0 0 0.005 1 0 0 0 0 9.819 287279 chr20 44750522 44750522 T C rs766167612 CD40 Nonsynonymous SNV S39P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.79 287280 chr15 73585804 73585804 T A rs779922331 NEO1 Synonymous SNV S1261S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.125 287281 chr20 55905010 55905010 A G rs140166023 SPO11 Synonymous SNV R29R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.032 287282 chr10 44141488 44141488 C A ZNF32-AS2 0 0.003 0 0 0 1 0 0 0 0 0 0 9.283 287283 chr10 46999427 46999427 T C rs572443249 GPRIN2 Nonsynonymous SNV S183P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 287284 chr20 58468209 58468209 C A rs144624770 SYCP2 Nonsynonymous SNV R594I 0 0.003 0 0 0 1 0 0 0 0 0 0 1.617 287285 chr10 47087024 47087024 G A rs145680912 NPY4R, NPY4R2 Nonsynonymous SNV A81T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.76 287286 chr10 49642998 49642998 A G MAPK8 Nonsynonymous SNV T328A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 287287 chr10 50678615 50678615 T C rs147079519 ERCC6 Nonsynonymous SNV N1131D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 287288 chr20 61512420 61512420 C T rs201746991 DIDO1 Nonsynonymous SNV E1630K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.732 287289 chr19 18561772 18561772 G A rs904550653 ELL Nonsynonymous SNV P327L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 287290 chr21 33785297 33785297 A C rs202031580 EVA1C Nonsynonymous SNV I46L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 287291 chr21 34925808 34925808 T C SON Nonsynonymous SNV V1424A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 287292 chr21 34927489 34927489 G C rs545015873 SON Synonymous SNV R1984R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.12 287293 chr19 36278229 36278229 G A ARHGAP33 Nonsynonymous SNV G785E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 287294 chr19 36278230 36278230 G A ARHGAP33 Synonymous SNV G785G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 287295 chr19 36321796 36321796 T C rs537783084 NPHS1 Nonsynonymous SNV T1182A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.001 287296 chr10 6498676 6498676 G A rs756942026 PRKCQ Nonsynonymous SNV T411M 0 0.003 0 0 0 1 0 0 0 0 0 0 27 287297 chr21 15538742 15538742 A G rs765786159 LIPI Nonsynonymous SNV I225T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 287298 chr10 70332398 70332398 G A TET1 Synonymous SNV G101G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.353 287299 chr10 71154790 71154790 C T rs770824752 HK1 Synonymous SNV F736F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.19 287300 chr15 94911021 94911021 G C rs140648009 MCTP2 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.7 287301 chr10 72629614 72629614 T A rs756546163 SGPL1 Nonsynonymous SNV V257E 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 287302 chr16 1257087 1257087 C G CACNA1H Nonsynonymous SNV S959C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 287303 chr21 40177938 40177938 A G rs1056904452 ETS2 Nonsynonymous SNV D105G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.315 287304 chr19 39212311 39212311 C T rs144388375 ACTN4 Synonymous SNV A475A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.45 287305 chr10 8007066 8007066 T C rs753885610 TAF3 Synonymous SNV T531T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.211 287306 chr21 47552424 47552424 G A rs61735832 COL6A2 Synonymous SNV A1006A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.533 287307 chr10 91099513 91099513 T C rs138219383 IFIT3 Synonymous SNV L367L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 287308 chr16 23494262 23494262 C T rs117323704 GGA2 Nonsynonymous SNV D288N 0 0 0.003 0 0 0 0 1 0 0 0 0 25 287309 chr21 47404310 47404310 G A rs149392243 COL6A1 Nonsynonymous SNV A119T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.13 287310 chr16 3100534 3100534 T - MMP25 F217Lfs*35 0 0 0.003 0 0 0 0 1 0 0 0 0 287311 chr22 18064285 18064285 A C LOC101929372 Nonsynonymous SNV W102G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.223 287312 chr19 45822857 45822857 A G CKM Nonsynonymous SNV Y39H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 287313 chr22 28378450 28378450 T C rs61744744 TTC28 Nonsynonymous SNV N2402S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.23 287314 chr7 128587499 128587499 G A rs765669086 IRF5 Nonsynonymous SNV V217I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.215 287315 chr22 30761995 30761995 G A rs61732271 CCDC157 Synonymous SNV A2A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.05 287316 chr22 30765502 30765502 G C rs5749080 CCDC157 Synonymous SNV A110A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.873 287317 chr19 48800240 48800240 C T rs539314807 CCDC114 Nonsynonymous SNV R669Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.2 287318 chr22 30803114 30803114 G A rs142009018 SEC14L2 Nonsynonymous SNV D15N 0 0.003 0 0 0 1 0 0 0 0 0 0 25 287319 chr22 30921728 30921728 C A rs538834258 SEC14L6 Nonsynonymous SNV G261W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 287320 chr16 57735974 57735974 G A rs548125692 DRC7 Nonsynonymous SNV G211S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 287321 chr11 105795346 105795346 T C rs749825744 GRIA4 Synonymous SNV S566S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.717 287322 chr19 50265395 50265395 C T rs202117338 TSKS Nonsynonymous SNV A89T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 287323 chr11 108043235 108043235 T C NPAT Nonsynonymous SNV N826D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 287324 chr22 38055001 38055001 G A rs776612734 PDXP Nonsynonymous SNV R71H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 287325 chr11 110582869 110582869 C T rs530582931 ARHGAP20 Nonsynonymous SNV G29E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 287326 chr19 50918815 50918815 C T rs768990776 POLD1 Synonymous SNV A921A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.68 287327 chr22 39067154 39067154 C A rs746161420 CBY1 Nonsynonymous SNV N88K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 287328 chr16 75634128 75634128 G T ADAT1 Nonsynonymous SNV H330N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 287329 chr22 42473309 42473309 C T rs199537712 PHETA2 Synonymous SNV N4N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.04 287330 chr2 201950184 201950184 A G rs369395188 NDUFB3 Nonsynonymous SNV N48S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 287331 chr11 117160423 117160423 G A rs138053957 BACE1 Synonymous SNV L355L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 287332 chr11 117691584 117691584 T C FXYD2, FXYD6-FXYD2 Nonsynonymous SNV K56E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 287333 chr22 44277442 44277442 T A PNPLA5 Nonsynonymous SNV I285F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 287334 chr8 113668522 113668522 T C rs149998099 CSMD3 Synonymous SNV P825P 0.003 0 0 0 3 0 0 0 0 0 0 0 0.107 287335 chr2 207572195 207572195 C A rs376672997 DYTN Nonsynonymous SNV V43F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 287336 chr16 83065711 83065711 G T rs753900035 CDH13 Nonsynonymous SNV R85I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 287337 chr11 122722414 122722414 C T rs776570229 CRTAM Synonymous SNV S69S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 287338 chr16 85010045 85010045 C T rs781180369 ZDHHC7 Synonymous SNV G277G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 287339 chr16 86565838 86565838 C T rs200853025 MTHFSD Nonsynonymous SNV G311R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 287340 chr22 50596503 50596503 G A rs368373557 MOV10L1 Synonymous SNV E155E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.554 287341 chr16 1417155 1417155 G T UNKL Nonsynonymous SNV P158T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.318 287342 chr22 50659049 50659049 C T rs775764563 TUBGCP6 Nonsynonymous SNV D1247N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 287343 chr22 51010483 51010483 G T CPT1B Nonsynonymous SNV N475K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.588 287344 chrX 2924728 2924728 C T rs149251764 ARSH Synonymous SNV Y25Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.353 287345 chr16 2376170 2376170 C T rs147278907 ABCA3 Nonsynonymous SNV A54T 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 287346 chr16 3140434 3140434 A G rs756702401 ZSCAN10 Nonsynonymous SNV V197A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 287347 chr16 89784297 89784329 GGCTCCCCCGACCTCTGTGATCCCACGTCCAGT - VPS9D1-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 287348 chr7 31848644 31848644 C A PDE1C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 287349 chr17 10355421 10355421 G A rs202092228 MYH4 Nonsynonymous SNV T1192M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 287350 chr19 56055484 56055484 G A rs535675236 SBK3 Synonymous SNV S127S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 287351 chr17 13977644 13977644 C T rs748889500 COX10 Synonymous SNV C16C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.466 287352 chrX 46360753 46360753 C T rs756871981 ZNF674 Nonsynonymous SNV E91K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.501 287353 chrX 48925478 48925478 C T rs373776682 CCDC120 Nonsynonymous SNV R610C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 287354 chrX 49104710 49104710 G A rs782549631 CCDC22 Nonsynonymous SNV R384H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 287355 chrX 50350729 50350731 TCC - rs781796833 SHROOM4 E1151del 0 0.003 0 0 0 1 0 0 0 0 0 0 287356 chr11 17378502 17378502 G - NCR3LG1 V126Sfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 287357 chr11 17408522 17408522 C T rs770375846 KCNJ11 Nonsynonymous SNV V373M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 287358 chrX 67937780 67937780 C T rs375495787 STARD8 Nonsynonymous SNV R262W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 287359 chr11 18754870 18754870 A G rs201890296 PTPN5 Nonsynonymous SNV V353A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 287360 chr2 234726668 234726668 G A rs1028702417 MROH2A Synonymous SNV Q994Q 0 0 0 2 0 0 0.005 0 0 0 0 0 8.724 287361 chr11 22363201 22363201 A G rs759198200 SLC17A6 Nonsynonymous SNV I72V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 287362 chr20 1433682 1433682 C T rs202113163 NSFL1C Nonsynonymous SNV R183H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 287363 chr17 2276273 2276273 G T rs754280176 SGSM2 Synonymous SNV R560R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.931 287364 chr2 239040106 239040106 C T rs528180538 ESPNL Synonymous SNV D549D 0 0 0 2 0 0 0.005 0 0 0 0 0 13.23 287365 chr17 27030635 27030635 G T PROCA1 Nonsynonymous SNV Q202K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 287366 chr17 27229871 27229871 A T rs1017745426 DHRS13 Nonsynonymous SNV M31K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.149 287367 chr11 26732884 26732884 C A rs115137776 SLC5A12 Nonsynonymous SNV V143L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 22.9 287368 chr11 28042799 28042799 G A rs139972326 KIF18A Nonsynonymous SNV P882L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.35 287369 chr17 28380824 28380824 C T rs200892732 EFCAB5 Stop gain R562X 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 287370 chrX 140926106 140926106 T C rs770032828 MAGEC3 Nonsynonymous SNV L2P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 287371 chr20 3306879 3306879 T C rs183121919 C20orf194 Nonsynonymous SNV I385V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 287372 chrX 141291032 141291032 C T rs370972923 MAGEC2 Nonsynonymous SNV V248I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.459 287373 chr20 3782739 3782739 G A CDC25B Nonsynonymous SNV E172K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 287374 chr11 397142 397142 C T rs544209953 PKP3 Nonsynonymous SNV A214V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.81 287375 chrX 152482890 152482890 C T rs782306002 MAGEA1 Nonsynonymous SNV G41S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.84 287376 chrX 152612692 152612692 C T rs368054741 ZNF275 Synonymous SNV C183C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.03 287377 chr17 34852099 34852099 C T rs776060536 MYO19 Nonsynonymous SNV G770E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 287378 chrX 154317599 154317599 C T BRCC3 Synonymous SNV S155S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 287379 chr1 916102 916102 G A rs921992632 PERM1 Nonsynonymous SNV P103L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.899 287380 chr17 39296259 39296259 G C rs776412887 KRTAP4-6 Nonsynonymous SNV R161G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.668 287381 chr17 39346229 39346229 A C KRTAP9-1 Nonsynonymous SNV T31P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.371 287382 chr1 6527927 6527927 C T rs762876171 PLEKHG5 Nonsynonymous SNV R990Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 287383 chr8 11666224 11666224 - TCCCACTCCCACTCCCACTCCCACTCCCAC FDFT1 S77_C78insHSHSHSHSHS 0.001 0 0 0 1 0 0 0 0 0 0 0 287384 chr1 7879410 7879410 T C PER3 Nonsynonymous SNV C530R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.034 287385 chr17 41168382 41168382 G A VAT1 Nonsynonymous SNV A347V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 287386 chr20 36845866 36845866 C A rs150964778 KIAA1755 Nonsynonymous SNV R548L 0.003 0 0 0 3 0 0 0 0 0 0 0 34 287387 chr17 43333402 43333402 T C rs771197304 SPATA32 Synonymous SNV Q49Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 287388 chr11 5010983 5010983 C G MMP26 Nonsynonymous SNV L69V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.248 287389 chr1 11735154 11735154 C T rs28924114 MAD2L2 Synonymous SNV T193T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.73 287390 chr17 45925715 45925715 C A rs376375048 SP6 Nonsynonymous SNV Q27H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 287391 chr20 45174708 45174708 A G OCSTAMP Nonsynonymous SNV V102A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.754 287392 chr20 48140727 48140727 T C rs5627 PTGIS Synonymous SNV L241L 0.001 0 0 0 1 0 0 0 0 0 0 0 9 287393 chr20 48156189 48156189 G A rs5625 PTGIS Synonymous SNV R197R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 287394 chr2 200137318 200137318 C T rs141436870 SATB2 Synonymous SNV P606P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.921 287395 chr2 201437625 201437625 T C SGO2 Synonymous SNV I852I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.089 287396 chr20 57227168 57227168 C A rs142560013 STX16 Nonsynonymous SNV P36T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.43 287397 chr17 56435545 56435545 C T rs148619997 RNF43 Nonsynonymous SNV R404H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 287398 chr16 88871938 88871938 G A rs373709218 CDT1 Synonymous SNV L193L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.51 287399 chr20 61513188 61513188 T C DIDO1 Nonsynonymous SNV K1374E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 287400 chr17 7161927 7161927 T G rs147921184 ELP5 Synonymous SNV L220L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.394 287401 chr17 7163743 7163743 G A rs149875713 CLDN7 Nonsynonymous SNV R196C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 287402 chr17 72945439 72945439 C T rs62638688 OTOP3 Synonymous SNV F555F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 287403 chr17 7345125 7345125 G T FGF11 Nonsynonymous SNV R53L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 287404 chr17 73492827 73492827 A T rs763529241 TMEM94 Nonsynonymous SNV Y1097F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 287405 chr17 73569211 73569211 C T rs376055189 LLGL2 Synonymous SNV Y859Y 0.003 0 0.003 0 3 0 0 1 0 0 0 0 6.773 287406 chr21 36042191 36042191 C T CLIC6 Synonymous SNV D168D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 287407 chr21 38560813 38560813 C G rs200741443 TTC3 Nonsynonymous SNV N925K 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 287408 chr1 34066588 34066588 G T rs200384313 CSMD2 Nonsynonymous SNV P2245T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.3 287409 chr11 6024059 6024059 T G rs776498358 OR56A4 Nonsynonymous SNV E55A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 287410 chr17 77709097 77709097 G C rs782761329 ENPP7 Nonsynonymous SNV V219L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 287411 chr21 45523306 45523306 G A rs767191085 TRAPPC10 Nonsynonymous SNV R758Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 287412 chr21 46233886 46233886 C T rs776311171 SUMO3 Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 287413 chr11 618630 618630 C T rs372768514 CDHR5 Synonymous SNV P637P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.23 287414 chr17 79220401 79220401 G A rs374394310 SLC38A10 Nonsynonymous SNV T772M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.009 287415 chr1 44605988 44605988 C A KLF18 Nonsynonymous SNV G439V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.444 287416 chr1 44606000 44606000 G A rs375887615 KLF18 Nonsynonymous SNV T435M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.068 287417 chr1 44606011 44606011 T - KLF18 Q433Rfs*2 0.002 0.003 0 0 2 1 0 0 0 0 0 0 287418 chr1 44606014 44606014 - G KLF18 Frameshift insertion G431Wfs*10 0.002 0.003 0 0 2 1 0 0 0 0 0 0 287419 chr1 44606015 44606015 C T KLF18 Nonsynonymous SNV C430Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.918 287420 chr1 44606022 44606022 C T rs76662218 KLF18 Nonsynonymous SNV A428T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.609 287421 chr1 44606023 44606023 T C rs79714745 KLF18 Synonymous SNV Q427Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.085 287422 chr11 62375758 62375758 G A rs751348632 EML3 Nonsynonymous SNV A375V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.64 287423 chr21 47961714 47961714 G A rs779042740 DIP2A Synonymous SNV S651S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.494 287424 chr17 8076871 8076871 G C rs77558339 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 0.895 287425 chr1 47726103 47726103 T C rs78932355 STIL Nonsynonymous SNV T980A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.088 287426 chr3 13670443 13670443 C T FBLN2 Nonsynonymous SNV P823S 0 0 0 3 0 0 0.008 0 0 0 0 0 0.063 287427 chr22 18379620 18379620 T C rs200619290 MICAL3 Nonsynonymous SNV N359S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 287428 chr2 25384608 25384608 G A rs770323857 POMC Nonsynonymous SNV A49V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 287429 chr22 19754235 19754235 G T TBX1 Nonsynonymous SNV G445C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 287430 chr11 64084784 64084784 A G rs758414246 TRMT112 Synonymous SNV R44R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.559 287431 chr22 20229820 20229820 C A RTN4R Nonsynonymous SNV R279L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 287432 chr8 94746878 94746878 G A rs201070043 RBM12B Synonymous SNV F587F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 287433 chr8 9610057 9610057 C T rs769078075 TNKS Nonsynonymous SNV A1025V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 287434 chr18 21740032 21740033 TG - rs149126027 CABYR *282delinsIQK* 0 0 0.003 0 0 0 0 1 0 0 0 0 287435 chr18 21752383 21752383 G A OSBPL1A Synonymous SNV L207L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 287436 chr2 29295187 29295187 G A rs372588982 PCARE Synonymous SNV A647A 0 0.005 0 0 0 2 0 0 0 0 0 0 Likely benign 7.026 287437 chr11 66811194 66811194 G A rs367795366 SYT12 Nonsynonymous SNV R121Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 287438 chr22 30776179 30776179 G A rs751886907 RNF215 Nonsynonymous SNV R294C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 287439 chr11 68183841 68183841 G A rs765665314 LRP5 Nonsynonymous SNV R377Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 287440 chr18 47390526 47390526 G A rs201760142 MYO5B Synonymous SNV L1276L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.312 287441 chr11 68773483 68773483 A G MRGPRF Nonsynonymous SNV F99L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.581 287442 chr2 45620195 45620195 G A SRBD1 Nonsynonymous SNV L863F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 287443 chr22 35463309 35463309 G A ISX Nonsynonymous SNV E77K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 287444 chr18 55992249 55992249 T A rs185533207 NEDD4L Nonsynonymous SNV S58T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.44 287445 chr1 86900364 86900364 C T rs764764684 CLCA2 Nonsynonymous SNV S303L 0 0.003 0 0 0 1 0 0 0 0 0 0 35 287446 chr11 71712453 71712453 G A rs5743673 IL18BP Nonsynonymous SNV R121Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.89 287447 chr11 71714981 71714981 G A rs5743684 NUMA1 Synonymous SNV S2082S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.333 287448 chr11 71727322 71727322 G A rs114856198 LOC100128494 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 287449 chr11 73843995 73843995 G A rs143645446 C2CD3 Nonsynonymous SNV R371W 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 287450 chr2 73518853 73518853 T C rs199592421 EGR4 Nonsynonymous SNV N398S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 287451 chr11 77690049 77690049 G C INTS4 Nonsynonymous SNV A155G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 287452 chr9 128509816 128509816 G C PBX3 Synonymous SNV P28P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 287453 chr2 74642215 74642215 G T rs1000002846 C2orf81 Nonsynonymous SNV H268Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 287454 chr2 75107684 75107684 C A rs747262717 HK2 Nonsynonymous SNV P520T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 287455 chr22 46929756 46929756 G C rs554300849 CELSR1 Nonsynonymous SNV F1104L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 287456 chr22 50488674 50488674 C T rs367778523 TTLL8 Synonymous SNV E54E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.137 287457 chr1 114128161 114128161 C G rs146330033 MAGI3 Nonsynonymous SNV L236V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.67 287458 chr11 9080911 9080911 G C SCUBE2 Synonymous SNV G343G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.005 287459 chr3 33618719 33618719 G A rs558277186 CLASP2 Synonymous SNV Y562Y 0 0 0 3 0 0 0.008 0 0 0 0 0 16.83 287460 chr3 36874042 36874042 C T rs777933055 TRANK1 Synonymous SNV P2300P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.482 287461 chr3 100473499 100473499 A C ABI3BP Synonymous SNV G918G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.858 287462 chr19 10428162 10428162 C G rs138632069 RAVER1 Nonsynonymous SNV D730H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 287463 chrX 10093084 10093084 G A rs147588863 WWC3 Nonsynonymous SNV C616Y 0.002 0 0 0 2 0 0 0 1 0 0 0 3.317 287464 chr19 13885332 13885332 C G C19orf53 Nonsynonymous SNV A14G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.508 287465 chr3 113327342 113327342 C G rs150449264 SIDT1 Nonsynonymous SNV A498G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 287466 chr12 105460440 105460440 G A ALDH1L2 Nonsynonymous SNV A201V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 287467 chrX 63563600 63563600 A G MTMR8 Nonsynonymous SNV V289A 0.002 0 0 0 2 0 0 0 1 0 0 0 15.83 287468 chr3 118621464 118621464 T C IGSF11 Nonsynonymous SNV H400R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.144 287469 chr12 107395699 107395699 C T rs528969089 CRY1 Synonymous SNV P146P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.56 287470 chr19 15272105 15272105 C T rs372833545 NOTCH3 Nonsynonymous SNV G2112S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.673 287471 chr1 155005719 155005719 A G rs139391176 DCST2 Nonsynonymous SNV L97S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 287472 chr3 121417029 121417029 C T GOLGB1 Nonsynonymous SNV A701T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.92 287473 chr10 102988538 102988538 C T LBX1 Nonsynonymous SNV G12E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.835 287474 chrX 152663802 152663802 A G rs868943811 PNMA6E Nonsynonymous SNV V169A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.688 287475 chrX 152663804 152663804 A G rs868955920 PNMA6E Synonymous SNV G168G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.023 287476 chr19 17397501 17397501 - TG rs879033943 ANKLE1 *598delinsCREHPGRSPPG* 0 0 0.003 0 0 0 0 1 0 0 0 0 287477 chr1 158261071 158261071 A C rs3138100 CD1C Nonsynonymous SNV N70T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.042 287478 chr1 158435501 158435501 G C rs6691971 OR10K1 Synonymous SNV V50V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.873 287479 chr1 158517585 158517585 G A rs55665765 OR6Y1 Nonsynonymous SNV T104I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 287480 chrX 148044384 148044384 G A AFF2 Nonsynonymous SNV A585T 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 0.173 287481 chrX 151138784 151138784 G C GABRE Synonymous SNV L49L 0.002 0 0 0 2 0 0 0 1 0 0 0 0.023 287482 chr3 12858514 12858514 G A rs375532435 CAND2 Nonsynonymous SNV V602M 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.4 287483 chr3 12858758 12858758 A G CAND2 Nonsynonymous SNV K683R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.147 287484 chr1 159002410 159002410 A G rs74122227 IFI16 Nonsynonymous SNV T364A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.7 287485 chr1 159021815 159021815 T G rs74122246 IFI16 Nonsynonymous SNV V615G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.003 287486 chr12 123214464 123214464 G A rs751994688 HCAR1 Synonymous SNV A141A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.206 287487 chr1 161126769 161126769 C T rs142789001 UFC1 Synonymous SNV N51N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.52 287488 chr1 161165424 161165424 A G rs34009675 ADAMTS4 Synonymous SNV G364G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.657 287489 chr19 2934054 2934054 G A rs17854297 ZNF77 Synonymous SNV C357C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.218 287490 chr1 161697191 161697191 G T rs200652437 FCRLB Nonsynonymous SNV S285I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.51 287491 chr17 73274393 73274393 G A rs142281464 SLC25A19 Synonymous SNV A161A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 11.84 287492 chr1 161954710 161954710 C T rs141945594 OLFML2B Nonsynonymous SNV R513Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 287493 chr17 73485353 73485353 C T rs115389161 TMEM94 Synonymous SNV C267C 0 0 0 2 0 0 0.005 0 0 0 0 0 14.21 287494 chr17 73567814 73567814 G A rs35474687 LLGL2 Nonsynonymous SNV R748H 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 21.2 287495 chr12 131285986 131285986 C T STX2 Nonsynonymous SNV G171R 0.001 0.005 0.003 0 1 2 0 1 0 0 0 0 35 287496 chr17 73569581 73569581 C T rs144386071 LLGL2 Synonymous SNV P915P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 14.27 287497 chr9 79252335 79252335 G A rs781546930 PRUNE2 Nonsynonymous SNV R252W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 287498 chr19 34832984 34832984 G A rs140626652 KIAA0355 Synonymous SNV P715P 0.001 0 0.014 0 1 0 0 4 0 0 0 0 3.841 287499 chr9 85677494 85677494 G A rs770242529 RASEF Nonsynonymous SNV P97S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 287500 chr19 3613448 3613448 C G rs12979314 CACTIN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.572 287501 chr3 151164652 151164652 G A IGSF10 Synonymous SNV F1039F 0 0.003 0 0 0 1 0 0 0 0 0 0 2.371 287502 chr12 1937326 1937326 G A rs572336742 LRTM2 Synonymous SNV P4P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.545 287503 chr12 19592980 19592980 G T rs929830498 AEBP2 Nonsynonymous SNV G116V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.14 287504 chr3 15457355 15457355 T C METTL6 Nonsynonymous SNV D107G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 287505 chr3 165548417 165548417 G A BCHE Synonymous SNV A135A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 287506 chr3 169485877 169485877 T G ACTRT3 Synonymous SNV S154S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.264 287507 chr4 10445030 10445030 A G ZNF518B Synonymous SNV L975L 0 0 0 2 0 0 0.005 0 0 0 0 0 1.364 287508 chr1 192985507 192985507 C T rs146351256 UCHL5 Nonsynonymous SNV A321T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 287509 chr1 200376781 200376781 T C ZNF281 Nonsynonymous SNV T685A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 287510 chr19 41895720 41895720 G A rs200877414 EXOSC5 Synonymous SNV L159L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.895 287511 chrX 149680919 149680919 C T MAMLD1 Nonsynonymous SNV P858L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 287512 chr4 144618353 144618353 A T FREM3 Nonsynonymous SNV V1159E 0 0 0 2 0 0 0.005 0 0 0 0 0 24 287513 chr18 13885348 13885348 G T rs755057148 MC2R Nonsynonymous SNV A57E 0 0 0 2 0 0 0.005 0 0 0 0 0 14.37 287514 chr1 212522583 212522583 C T rs758587827 PPP2R5A Nonsynonymous SNV P252L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 287515 chr12 53074116 53074116 C T rs776478134 KRT1 Nonsynonymous SNV S6N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 287516 chrX 66765159 66765206 GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA - AR Q65_Q80del 0.001 0 0 0 1 0 0 0 0 0 0 0 287517 chr19 46269993 46269993 G A SIX5 Synonymous SNV A408A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.379 287518 chr19 4652163 4652163 G A TNFAIP8L1 Synonymous SNV A94A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.251 287519 chr19 47231222 47231222 C T rs146924455 STRN4 Nonsynonymous SNV R361Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 287520 chr1 226259193 226259193 A G H3P6 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 287521 chr12 56221765 56221765 T C rs149729837 DNAJC14 Synonymous SNV K226K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 287522 chr12 56568479 56568479 G A rs767090428 SMARCC2 Synonymous SNV T484T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 287523 chr19 49183900 49183900 G A rs183363666 SEC1P 0 0 0.007 0 0 0 0 2 0 0 0 0 2.544 287524 chr12 58174275 58174275 T C rs111299874 EEF1AKMT3 Nonsynonymous SNV I176T 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 22.7 287525 chr12 654632 654632 C A rs146074466 B4GALNT3 Synonymous SNV G212G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.37 287526 chr1 44475644 44475644 C T SLC6A9 Nonsynonymous SNV M83I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 287527 chr12 665897 665932 AACCTGCAAGGCCTGGTCTGGGACCCACACAACCGT - rs544102330 B4GALNT3 N749_R760del 0 0.003 0 0 0 1 0 0 0 0 0 0 287528 chr4 30723172 30723172 C T rs371376963 PCDH7 Nonsynonymous SNV P43L 0 0 0 2 0 0 0.005 0 0 0 0 0 28.1 287529 chr1 237729878 237729878 G A rs781547572 RYR2 Nonsynonymous SNV E1076K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.7 287530 chr1 240256105 240256105 T C rs11583501 FMN2 Synonymous SNV P232P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 2.531 287531 chr19 52146915 52146915 A G SIGLEC14 Synonymous SNV S341S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.173 287532 chr19 52272131 52272131 T C rs74602258 FPR2 Nonsynonymous SNV F74L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 287533 chr3 48309707 48309707 A G rs201880366 ZNF589 Nonsynonymous SNV I176V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 287534 chr4 39448789 39448789 A G rs145447046 KLB Nonsynonymous SNV K815E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 20.6 287535 chr4 39506052 39506052 C G rs141970383 UGDH Nonsynonymous SNV E349D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 287536 chr1 247835471 247835471 A G rs543334482 OR13G1 Synonymous SNV N291N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 287537 chr3 50355847 50355847 G A HYAL2 Nonsynonymous SNV R379C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 287538 chr10 131757254 131757254 G A EBF3 Synonymous SNV G143G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 287539 chr19 53855997 53855997 C A ZNF845 Nonsynonymous SNV P690H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 287540 chr19 53856007 53856007 T C ZNF845 Synonymous SNV C693C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 287541 chr19 53856009 53856009 A G rs769610189 ZNF845 Nonsynonymous SNV N694S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.33 287542 chr4 5853156 5853156 G T rs778643535 CRMP1 Synonymous SNV V287V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.48 287543 chr3 72890250 72890250 C A rs545943497 SHQ1 Synonymous SNV P144P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.99 287544 chr3 77542509 77542509 A G ROBO2 Nonsynonymous SNV D261G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 287545 chr19 57642101 57642101 T C USP29 Synonymous SNV P686P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 287546 chr19 58213610 58213610 C T rs200928793 ZNF154 Nonsynonymous SNV R236Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 287547 chr2 26688592 26688592 G A rs781688103 OTOF Nonsynonymous SNV R893C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Pathogenic 34 287548 chr19 58983095 58983095 C T rs61731804 ZNF324 Synonymous SNV L412L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.155 287549 chr19 6166026 6166026 C T rs560299046 ACSBG2 Synonymous SNV N246N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.431 287550 chr2 27522165 27522165 G T rs146448995 TRIM54 Stop gain E132X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 39 287551 chr2 27676277 27676277 C T rs761699238 IFT172 Nonsynonymous SNV G1309S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.117 287552 chr4 107181663 107181663 T C TBCK Nonsynonymous SNV H129R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 287553 chr19 7505163 7505163 C T rs199567237 ARHGEF18 Nonsynonymous SNV R59C 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign 22.3 287554 chr11 117651258 117651258 G A DSCAML1 Nonsynonymous SNV A105V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 287555 chr19 758453 758453 T C rs774986449 MISP Nonsynonymous SNV Y503H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.151 287556 chr10 47087175 47087175 C T rs782120446 NPY4R, NPY4R2 Nonsynonymous SNV S131L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 287557 chr10 48390527 48390527 C T rs140749741 RBP3 Synonymous SNV L117L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 287558 chr4 88293905 88293905 A G HSD17B11 Synonymous SNV A171A 0 0 0 3 0 0 0.008 0 0 0 0 0 10.79 287559 chr4 90857884 90857884 C G MMRN1 Nonsynonymous SNV T1018R 0 0 0 3 0 0 0.008 0 0 0 0 0 25 287560 chr4 1165227 1165227 C T rs1023369767 SPON2 Nonsynonymous SNV V90I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 287561 chr10 61834225 61834225 A G rs777835764 ANK3 Synonymous SNV P2138P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 287562 chr14 101004407 101004407 G A rs200143180 BEGAIN Nonsynonymous SNV R561C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 287563 chr19 9076727 9076727 G A rs766981728 MUC16 Synonymous SNV R3573R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.402 287564 chr11 125778120 125778120 C T DDX25 Nonsynonymous SNV A114V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 287565 chr2 63176032 63176032 A G EHBP1 Nonsynonymous SNV D684G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 287566 chr14 104646012 104646012 C T rs935332073 KIF26A Nonsynonymous SNV A1845V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 287567 chr10 71678070 71678070 G A rs371799102 COL13A1 Nonsynonymous SNV M285I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 287568 chr10 71899769 71899769 G A rs375494960 TYSND1 Nonsynonymous SNV L538F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 287569 chr11 128838938 128838938 C T rs759183879 ARHGAP32 Nonsynonymous SNV G1694D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 287570 chr11 129742957 129742957 G C NFRKB Nonsynonymous SNV T887S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.255 287571 chr14 20528374 20528374 - C OR4L1 Frameshift insertion Y60Vfs*29 0 0.003 0 0 0 1 0 0 0 0 0 0 287572 chr1 109898054 109898054 G A rs181407789 SORT1 Nonsynonymous SNV L24F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 287573 chr1 110738284 110738284 C T rs375172295 SLC6A17 Synonymous SNV F523F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 287574 chr1 111731351 111731351 G A rs201051055 DENND2D Nonsynonymous SNV L355F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 287575 chr2 74901785 74901785 G A rs761399166 SEMA4F Nonsynonymous SNV G173D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 287576 chr4 1720088 1720088 G A rs142819231 TMEM129 Synonymous SNV T157T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.98 287577 chr1 115168586 115168586 C T rs147242882 DENND2C Nonsynonymous SNV R7H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 287578 chr1 11586819 11586819 G A DISP3 Nonsynonymous SNV A909T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 287579 chr5 139917800 139917800 A G rs111893699 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV N2453S 0.001 0.003 0 2 1 1 0.005 0 0 0 0 0 23.1 287580 chr5 139940602 139940602 C T APBB3 0 0 0 2 0 0 0.005 0 0 0 0 0 25.3 287581 chr2 88425718 88425718 T A FABP1 Nonsynonymous SNV T73S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.55 287582 chr2 88425719 88425719 C A FABP1 Nonsynonymous SNV E72D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.45 287583 chr14 22133463 22133463 A G rs193176078 OR4E2 Nonsynonymous SNV H56R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.445 287584 chr5 140183020 140183020 G A rs150112751 PCDHA3 Synonymous SNV G746G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 10.62 287585 chr2 97494737 97494737 C A CNNM3 Nonsynonymous SNV T594K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 287586 chr2 100210704 100210704 G A rs754386659 AFF3 Synonymous SNV N498N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.943 287587 chr1 1275471 1275471 C T rs901874734 DVL1 Nonsynonymous SNV G286S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 287588 chr4 2307121 2307121 G C rs61742112 ZFYVE28 Nonsynonymous SNV P286A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.001 287589 chr10 99416109 99416109 G A rs771545414 PI4K2A Nonsynonymous SNV R235Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 287590 chr2 102636190 102636190 G A rs150822040 IL1R2 Nonsynonymous SNV A202T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 287591 chr4 2822441 2822441 C T rs774809755 SH3BP2 Synonymous SNV L33L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.89 287592 chr4 3251198 3251198 C T rs149980355 MSANTD1 Synonymous SNV F83F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.99 287593 chr1 150969814 150969814 G A rs140375829 MINDY1 Synonymous SNV A311A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.761 287594 chr11 1017078 1017078 G A rs759742234 MUC6 Nonsynonymous SNV S1908L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 287595 chr1 151773684 151773684 C G rs765052995 LINGO4 Synonymous SNV L499L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.189 287596 chr1 152130341 152130341 G A rs149300461 RPTN Nonsynonymous SNV L9F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 287597 chr1 152327652 152327652 G T rs12737224 FLG2 Synonymous SNV G870G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.101 287598 chr11 46564711 46564711 C T AMBRA1 Nonsynonymous SNV A286T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 287599 chr2 128388461 128388461 G A rs759473647 MYO7B Nonsynonymous SNV E1613K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 287600 chr4 4304669 4304669 G T rs764986762 ZBTB49 Nonsynonymous SNV C369F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.82 287601 chr2 128480611 128480611 G A rs145850509 WDR33 Synonymous SNV L433L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.37 287602 chr11 47741524 47741524 C T rs748407560 FNBP4 Nonsynonymous SNV A976T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 287603 chr1 154841793 154841793 G T KCNN3 Synonymous SNV P216P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.446 287604 chr11 102239127 102239127 A G rs187423268 BIRC2 Nonsynonymous SNV N405S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.492 287605 chr1 155291050 155291050 C T rs147600336 RUSC1-AS1 0 0 0.01 0 0 0 0 3 0 0 1 0 7.951 287606 chr1 156038200 156038200 A G RAB25 Nonsynonymous SNV S127G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 287607 chr5 156566235 156566235 T C rs777873222 MED7 Nonsynonymous SNV M70V 0 0 0 2 0 0 0.005 0 0 0 0 0 9.252 287608 chr4 57220977 57220977 T A rs144290821 AASDH Nonsynonymous SNV K268N 0 0.003 0 0 0 1 0 0 0 0 0 0 24 287609 chr5 156590536 156590536 G A rs753781161 FAM71B Nonsynonymous SNV A247V 0 0 0 2 0 0 0.005 0 0 0 0 0 2.366 287610 chr1 156521525 156521525 A G IQGAP3 Nonsynonymous SNV L569P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 287611 chr14 60398705 60398705 A G rs972806 LRRC9 Nonsynonymous SNV N164S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.14 287612 chr2 152348642 152348642 G A rs374413679 NEB Nonsynonymous SNV R6487W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 287613 chr5 159822078 159822078 G A rs146329661 ZBED8 Synonymous SNV P140P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 3.932 287614 chr14 62207848 62207848 C G rs142325668 HIF1A Nonsynonymous SNV Q703E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.898 287615 chr4 6611542 6611542 A G rs201499468 MAN2B2 Nonsynonymous SNV N624S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 287616 chr14 65237822 65237822 G A SPTB Nonsynonymous SNV T1860I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 287617 chr2 166850898 166850898 A C SCN1A Nonsynonymous SNV F1537C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 287618 chr5 176024372 176024372 C T rs547807364 GPRIN1 Nonsynonymous SNV V822I 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 287619 chr1 160851786 160851786 G A rs370012487 ITLN1 Synonymous SNV T122T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 287620 chr2 170100013 170100013 T A rs757327993 LRP2 Nonsynonymous SNV Q1150H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 287621 chr11 117186428 117186428 C T rs762136477 BACE1 Synonymous SNV L28L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 287622 chr14 77229453 77229453 G A rs1013420374 VASH1 Nonsynonymous SNV G97R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 287623 chr4 79368023 79368023 A C FRAS1 Nonsynonymous SNV K2000T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 287624 chr1 169768069 169768069 C A rs936834113 C1orf112 Nonsynonymous SNV Q41K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 287625 chr2 179417164 179417164 A G TTN Nonsynonymous SNV Y21090H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.12 287626 chr4 79475634 79475634 T C rs917753057 ANXA3 Nonsynonymous SNV S3P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 287627 chr11 120107415 120107415 G A rs539846719 POU2F3 Synonymous SNV R11R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.442 287628 chr11 120300453 120300453 C T ARHGEF12 Synonymous SNV A213A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.08 287629 chr2 179447269 179447269 G A rs755916258 TTN Nonsynonymous SNV R12907C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 287630 chr14 81969190 81969190 G A SEL1L Nonsynonymous SNV H218Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 287631 chr4 8242607 8242607 C A SH3TC1 Nonsynonymous SNV N1236K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.6 287632 chr1 17314633 17314633 C T rs144557304 ATP13A2 Synonymous SNV T909T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.92 287633 chr14 89083198 89083198 T G EML5 Nonsynonymous SNV I1890L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 287634 chr1 173628446 173628446 G A rs201859728 ANKRD45 Nonsynonymous SNV P38S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.91 287635 chr2 183094859 183094859 G A rs150489482 PDE1A Synonymous SNV C165C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.94 287636 chr11 124740508 124740508 G A rs770617692 ROBO3 Nonsynonymous SNV R306Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 287637 chr1 183486894 183486894 G A rs138777313 SMG7 Nonsynonymous SNV R42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 287638 chr2 196681503 196681503 G A rs372339012 DNAH7 Nonsynonymous SNV R3204C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.3 287639 chr1 185109308 185109308 T C rs745661025 TRMT1L Synonymous SNV K146K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.093 287640 chr5 109941012 109941012 G A rs6861741 TMEM232 Synonymous SNV V358V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 287641 chr5 110097362 110097362 G T rs79149180 SLC25A46 Nonsynonymous SNV E298D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.65 287642 chr1 186332541 186332541 C T rs777337605 TPR Nonsynonymous SNV S155N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 287643 chr15 33357165 33357165 A G FMN1 Synonymous SNV T495T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.299 287644 chr15 33445819 33445819 C T FMN1 Nonsynonymous SNV A433T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.13 287645 chr15 40544505 40544505 G A C15orf56 Nonsynonymous SNV P156L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 287646 chr2 210640705 210640705 G A rs566697378 UNC80 Synonymous SNV V78V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 287647 chr2 219206646 219206646 C T rs74718922 MIR6810 0 0.003 0 0 0 1 0 0 0 0 0 0 4.531 287648 chr2 219221631 219221631 A G CATIP Synonymous SNV T8T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.548 287649 chr2 219508211 219508211 A G rs61733644 ZNF142 Nonsynonymous SNV S1010P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 287650 chr5 13830149 13830149 G A rs371463953 DNAH5 Nonsynonymous SNV L2079F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 287651 chr2 219892290 219892290 C T rs12470152 CFAP65 Nonsynonymous SNV E700K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.286 287652 chr2 220038094 220038094 G A rs73074979 CNPPD1 Nonsynonymous SNV S223F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 287653 chr2 220103031 220103031 T C rs539260241 GLB1L Nonsynonymous SNV T338A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.2 287654 chr1 206756687 206756687 G A rs61759872 RASSF5 Synonymous SNV E69E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 287655 chr2 220349487 220349487 G A rs550025279 SPEG Synonymous SNV G2434G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.339 287656 chr2 220350089 220350089 G C SPEG Nonsynonymous SNV R2544P 0 0.003 0 0 0 1 0 0 0 0 0 0 34 287657 chr2 220408119 220408119 A G rs61733622 CHPF Nonsynonymous SNV S48P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.73 287658 chr1 209963840 209963840 C T rs200808685 IRF6 Nonsynonymous SNV D259N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 287659 chr2 220439987 220439987 C T rs115371131 INHA Synonymous SNV I280I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.64 287660 chr2 220499222 220499222 G A rs530465045 SLC4A3 Nonsynonymous SNV V575I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 287661 chr1 212976081 212976081 G A rs369697680 TATDN3 Synonymous SNV K99K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 287662 chr1 216061981 216061981 A G USH2A Synonymous SNV T2670T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.846 287663 chr1 227259987 227259987 A C rs369524727 CDC42BPA Nonsynonymous SNV S836A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 287664 chr6 117803986 117803986 T C rs934173261 DCBLD1 Synonymous SNV A14A 0 0 0 2 0 0 0.005 0 0 0 0 1 5.805 287665 chr6 117803987 117803987 G T rs1051771967 DCBLD1 Nonsynonymous SNV A15S 0 0 0 2 0 0 0.005 0 0 0 0 1 4.204 287666 chr2 242624157 242624157 G A rs751038072 DTYMK Nonsynonymous SNV P83S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 287667 chr3 391214 391214 G A rs778570130 CHL1 Nonsynonymous SNV V341I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 287668 chr15 84683338 84683338 C G rs367754473 ADAMTSL3 Nonsynonymous SNV L1340V 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 287669 chr15 84683366 84683366 A G rs774444772 ADAMTSL3 Nonsynonymous SNV N1349S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 22.3 287670 chr15 85370777 85370777 C T rs369383271 ALPK3 Nonsynonymous SNV T82M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 287671 chr3 9989339 9989339 G A rs778056631 PRRT3 Synonymous SNV A506A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.117 287672 chr6 13634711 13634711 C A RANBP9 Nonsynonymous SNV G583C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 287673 chr3 12660124 12660124 C T RAF1 Nonsynonymous SNV V33I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.12 287674 chr6 139609878 139609878 G A rs147034856 TXLNB Synonymous SNV P53P 0.001 0 0.003 2 1 0 0.005 1 0 0 0 0 9.092 287675 chr3 15297803 15297803 C T rs115681335 SH3BP5 Synonymous SNV R229R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.84 287676 chr3 15298293 15298293 A G rs898938284 SH3BP5-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 4.474 287677 chr3 15455631 15455631 G A rs752610484 METTL6 Synonymous SNV Y145Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.426 287678 chr3 17052514 17052514 A G PLCL2 Nonsynonymous SNV D433G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.675 287679 chr1 26672505 26672505 C T rs770050214 CRYBG2 Nonsynonymous SNV R215H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.107 287680 chr5 32090620 32090620 G A rs139966462 PDZD2 Nonsynonymous SNV G2356R 0 0.003 0 0 0 1 0 0 0 0 0 0 19 287681 chr1 27690526 27690526 C T rs373435230 MAP3K6 Nonsynonymous SNV R241Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 287682 chr11 82956586 82956586 T C ANKRD42 Synonymous SNV I414I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 287683 chr11 8942935 8942935 C T rs202215791 C11orf16 Synonymous SNV P444P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.2 287684 chr12 102091730 102091730 G A rs748482566 CHPT1 Nonsynonymous SNV E31K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 287685 chr11 9438683 9438683 G A rs780652512 IPO7 Synonymous SNV R238R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.09 287686 chr16 19603181 19603181 A G rs770873864 VPS35L Nonsynonymous SNV I237V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 287687 chr1 46977896 46977896 T C DMBX1 Synonymous SNV P293P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.189 287688 chr1 47904548 47904548 C T rs767828847 FOXD2 Synonymous SNV A247A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 287689 chr3 52440862 52440862 G A rs200953639 BAP1 Synonymous SNV I214I 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.584 287690 chr3 52521521 52521532 GGAGGAAGAGGA - rs564360145 NISCH E676_E679del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 287691 chr5 79026927 79026927 C T rs138179253 CMYA5 Nonsynonymous SNV P780L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 287692 chr5 79815571 79815571 G A rs146970475 FAM151B Nonsynonymous SNV R126H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 287693 chr3 55922560 55922560 A G rs764048315 ERC2 Synonymous SNV N805N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.888 287694 chr5 90103471 90103471 G A rs370103595 ADGRV1 Synonymous SNV T4963T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.515 287695 chr1 6674138 6674138 C T PHF13 Synonymous SNV D4D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 287696 chr6 38906754 38906754 T C rs148812133 DNAH8 Synonymous SNV A3782A 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 3.23 287697 chr6 39847178 39847178 C T rs377713628 DAAM2 Synonymous SNV D590D 0 0 0 2 0 0 0.005 0 0 0 0 0 12.04 287698 chr16 3598194 3598194 G A rs371123691 NLRC3 Synonymous SNV A904A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.93 287699 chr6 41904385 41904385 A G rs376994122 CCND3 Nonsynonymous SNV I136T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 287700 chr12 133810935 133810935 C T rs182378009 ANHX Nonsynonymous SNV S3N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 287701 chr1 89583435 89583435 A C rs748199367 GBP2 Nonsynonymous SNV D150E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 287702 chr1 89732236 89732236 G A rs377547796 GBP5 Nonsynonymous SNV R221C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 287703 chr16 56711755 56711755 A G MT1IP 0 0.003 0 0 0 1 0 0 0 0 0 0 2.434 287704 chr16 57490542 57490542 C G rs863223940 COQ9 Nonsynonymous SNV Q169E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.8 287705 chr16 57600568 57600568 G T rs200838029 ADGRG5 Nonsynonymous SNV G202W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 287706 chr3 112647718 112647718 G A rs745820042 CD200R1 Synonymous SNV T215T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.1 287707 chr1 949717 949717 C T rs376631917 ISG15 Synonymous SNV D119D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 287708 chr3 113619910 113619910 C G rs137966686 GRAMD1C Synonymous SNV L191L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 287709 chr6 55216248 55216248 G T rs756382910 GFRAL Nonsynonymous SNV D190Y 0 0 0 3 0 0 0.008 0 0 0 0 0 26.7 287710 chr16 67855088 67855088 T C rs368373184 TSNAXIP1 Nonsynonymous SNV L116P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 287711 chr16 67855089 67855089 G T rs764350305 TSNAXIP1 Stop gain G79X 0 0.003 0 0 0 1 0 0 0 0 0 0 7.63 287712 chr16 683959 683959 G A rs149512324 WFIKKN1 Nonsynonymous SNV G517S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.067 287713 chr6 13711706 13711706 T G rs564919776 RANBP9 Nonsynonymous SNV Q11P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.374 287714 chr6 138752571 138752571 A T NHSL1 Nonsynonymous SNV F975I 0 0.003 0 0 0 1 0 0 0 0 0 0 25 287715 chr20 17479481 17479481 C T rs751568608 BFSP1 Nonsynonymous SNV E189K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 287716 chr6 74354305 74354305 C T rs769235753 SLC17A5 Nonsynonymous SNV R39H 0 0 0 3 0 0 0.008 0 0 0 0 0 Likely pathogenic 32 287717 chr16 722259 722259 C T rs143027101 RHOT2 Nonsynonymous SNV R350C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 287718 chr3 124739762 124739762 G A rs767598278 HEG1 Nonsynonymous SNV P376S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.543 287719 chr12 49691387 49691387 C A rs200141011 LOC101927267 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 12.28 287720 chr6 87969649 87969649 C T rs200254331 ZNF292 Nonsynonymous SNV S2101F 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 287721 chr3 127323939 127323939 A T MCM2 Nonsynonymous SNV T205S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 287722 chr3 128633998 128633998 C G rs770178427 KIAA1257 Nonsynonymous SNV E791Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 287723 chr6 90466088 90466088 T C MDN1 Synonymous SNV E908E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.917 287724 chr12 50369433 50369433 C T rs543994979 AQP6 Synonymous SNV A276A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.13 287725 chr20 30385288 30385288 G C TPX2 Nonsynonymous SNV V639L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 287726 chr3 132051063 132051063 C T rs368005227 ACP3 Nonsynonymous SNV R111W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 287727 chr3 133327432 133327432 C A rs148403666 TOPBP1 Nonsynonymous SNV A1453S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.97 287728 chr3 133476698 133476698 A G rs41295774 TF Nonsynonymous SNV H192R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.003 287729 chr16 84485666 84485666 G A rs529266653 ATP2C2 Synonymous SNV T449T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.125 287730 chr20 33501210 33501210 G A rs765529559 ACSS2 Nonsynonymous SNV D161N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 287731 chr3 134343904 134343904 G A rs542592219 KY Synonymous SNV Y116Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.422 287732 chr16 87872373 87872373 G A rs777967482 SLC7A5 Synonymous SNV F330F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 287733 chr16 87885387 87885387 C T rs151257488 SLC7A5 Nonsynonymous SNV A203T 0 0.003 0 0 0 1 0 0 0 0 0 0 31 287734 chr12 54686558 54686558 T G NFE2 Nonsynonymous SNV K241T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 287735 chr12 104121126 104121126 C T rs781561788 STAB2 Nonsynonymous SNV R1645W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 287736 chr12 56514938 56514939 AG - ZC3H10 R198Gfs*3 0.002 0 0 0 2 0 0 0 0 0 0 0 287737 chr20 48808062 48808062 - CCG CEBPB P147_A148insP 0 0 0.003 0 0 0 0 1 0 0 0 0 287738 chr12 6457100 6457100 C T rs367681929 SCNN1A Nonsynonymous SNV R709H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 287739 chr20 56811270 56811270 G A rs187749495 PPP4R1L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.796 287740 chr20 57767433 57767433 C T rs200610922 ZNF831 Synonymous SNV H453H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.001 287741 chr12 113835053 113835053 G C SDS Synonymous SNV V190V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.391 287742 chr20 5930991 5930991 G A TRMT6 Nonsynonymous SNV R21C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 287743 chr3 183756372 183756372 G C rs760827390 HTR3D Nonsynonymous SNV K190N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.4 287744 chr12 7030946 7030946 G A ENO2 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 287745 chr20 60913316 60913316 G A rs370141221 LAMA5 Synonymous SNV P576P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.609 287746 chr12 70304631 70304631 T C MYRFL Nonsynonymous SNV L508P 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 287747 chr20 60926765 60926765 C T rs376308036 LAMA5 Synonymous SNV P317P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 287748 chr20 61990903 61990903 G A rs113080067 CHRNA4 Synonymous SNV D75D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.733 287749 chr17 17942970 17942970 - GCG rs762399154 GID4 A68_V69insA 0 0.003 0 0 0 1 0 0 0 0 0 0 287750 chr12 12232270 12232270 G C BCL2L14 Nonsynonymous SNV E11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 287751 chr20 825607 825607 G A rs139752871 FAM110A Nonsynonymous SNV V54I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 29.1 287752 chr12 91371883 91371883 C T rs750463324 EPYC Nonsynonymous SNV G108R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 287753 chr21 33690022 33690022 G A rs370120322 URB1 Nonsynonymous SNV A2000V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 287754 chr12 132633433 132633433 - AACCTCGGT NOC4L C298_D299insNLG 0.001 0 0 0 1 0 0 0 0 0 0 0 287755 chr12 132633435 132633435 - GTGCCGCCGCCTCACTCCTACCACACCCCTAATCC NOC4L Frameshift insertion D299Efs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 287756 chr21 33887329 33887329 T C rs753943307 EVA1C Synonymous SNV D278D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 287757 chr4 517495 517495 C T rs201186795 PIGG Nonsynonymous SNV A488V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.542 287758 chr21 35169809 35169809 C T rs138849968 ITSN1 Synonymous SNV G693G 0.004 0 0.003 0 5 0 0 1 0 0 0 0 12.75 287759 chr4 675805 675805 C G rs768402159 SLC49A3 Nonsynonymous SNV R423T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 287760 chr4 2065743 2065743 C T NAT8L Synonymous SNV H266H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.516 287761 chr7 144101758 144101758 A G NOBOX Nonsynonymous SNV V34A 0 0 0 2 0 0 0.005 0 0 0 0 0 10.46 287762 chr17 33266641 33266641 T C CCT6B Nonsynonymous SNV T317A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.687 287763 chr7 148771516 148771516 A G rs201062860 ZNF786 Nonsynonymous SNV M87T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 287764 chr17 33876022 33876022 T C SLFN14 Nonsynonymous SNV I659V 0 0.003 0 0 0 1 0 0 0 0 0 0 21 287765 chr17 33881520 33881520 C T LOC107985033 0 0.003 0 0 0 1 0 0 0 0 0 0 2.052 287766 chr4 6615954 6615954 C A rs147242306 MAN2B2 Nonsynonymous SNV P807Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.235 287767 chr7 151891131 151891131 A C KMT2C Synonymous SNV P1541P 0 0 0 2 0 0 0.005 0 0 0 0 0 0.366 287768 chr12 40651144 40651144 T C rs35847451 LRRK2 Synonymous SNV S461S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.696 287769 chr22 17566118 17566118 C T IL17RA Nonsynonymous SNV P46L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 287770 chr22 18913208 18913208 A T rs200757095 LOC102724788, PRODH Nonsynonymous SNV D62E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 287771 chr17 38319778 38319778 G A rs759647935 CASC3 Nonsynonymous SNV R277Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 287772 chr7 20420400 20420400 C T rs569051941 ITGB8 Synonymous SNV N249N 0 0 0 2 0 0 0.005 0 0 0 0 0 12.89 287773 chr22 21304031 21304031 T C rs149226907 CRKL Synonymous SNV N270N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.451 287774 chr4 20591341 20591341 C G SLIT2 Nonsynonymous SNV L1051V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 287775 chr7 21757393 21757393 G A rs761918179 DNAH11 Synonymous SNV P2328P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.23 287776 chr4 39891912 39891912 A G rs779696739 PDS5A Synonymous SNV L615L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 287777 chr4 46043162 46043162 C T rs140719654 GABRG1 Nonsynonymous SNV S414N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 287778 chr17 40261295 40261295 C T rs139980422 DHX58 Nonsynonymous SNV R224H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 287779 chr13 79177379 79177379 C T POU4F1 Nonsynonymous SNV S28N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 287780 chr17 4047253 4047253 C T rs750357806 CYB5D2 Synonymous SNV S68S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 287781 chr22 32620417 32620419 ATC - rs369463725 SLC5A4 M500del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 287782 chr4 57193849 57193851 AAG - rs759703187 CRACD E1195del 0 0.003 0 0 0 1 0 0 0 0 0 0 287783 chr12 53590542 53590542 G T rs11574537 ITGB7 Nonsynonymous SNV R213S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 287784 chr7 39990741 39990741 G A rs999406904 CDK13 Synonymous SNV A167A 0 0 0 2 0 0 0.005 0 0 0 0 0 11.99 287785 chr17 4348412 4348412 T C rs149840371 SPNS3 Synonymous SNV G117G 0 0.005 0 0 0 2 0 0 0 0 0 0 0.078 287786 chr12 56525298 56525298 T C rs140431274 ESYT1 Nonsynonymous SNV I251T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 287787 chr17 45735924 45735924 C T KPNB1 Synonymous SNV I33I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 287788 chr14 105688135 105688137 CAC - rs587772315 BRF1 G150del 0.002 0 0 0 2 0 0 0 0 0 0 0 287789 chr22 44368144 44368144 C T rs142640319 SAMM50 Synonymous SNV D117D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 287790 chr7 540083 540083 A C PDGFA X212E 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.497 287791 chr4 90169082 90169082 T G rs754474393 GPRIN3 Nonsynonymous SNV Q727P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 287792 chr14 23530555 23530555 G A rs763195687 ACIN1 Nonsynonymous SNV R457C 0.003 0 0 3 4 0 0.008 0 0 0 0 0 35 287793 chr22 50752678 50752678 G C DENND6B Nonsynonymous SNV L366V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 287794 chr12 72070769 72070770 AT - rs759884130 THAP2 M190Vfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 287795 chr22 50945247 50945247 G C rs368750609 LMF2 Stop gain Y79X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 287796 chr7 72892231 72892231 A G BAZ1B Synonymous SNV S520S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.066 287797 chr14 24632698 24632698 T C rs979934277 IRF9 Nonsynonymous SNV L159P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.096 287798 chr14 24780734 24780734 C T rs991057357 LTB4R2 Synonymous SNV Y288Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.2 287799 chr17 59760956 59760956 C T BRIP1 Nonsynonymous SNV E1151K 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 10.8 287800 chr4 122737550 122737552 GAA - rs766657767 EXOSC9 E398del 0 0.003 0 0 0 1 0 0 0 0 0 0 287801 chr3 97595086 97595086 G C rs144798082 CRYBG3 Nonsynonymous SNV G1683A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 287802 chr3 97595088 97595088 A T rs138563048 CRYBG3 Nonsynonymous SNV T1684S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.118 287803 chr2 10933272 10933272 C T rs147512716 PDIA6 Nonsynonymous SNV V135M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 287804 chr4 140640531 140640531 G A rs559373043 MAML3 Synonymous SNV G1121G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.727 287805 chr2 113832335 113832335 C T IL1F10 Nonsynonymous SNV R52C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 287806 chr2 131103505 131103505 G A rs754716302 IMP4 Nonsynonymous SNV R113Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 287807 chr2 133542601 133542601 T A NCKAP5 Nonsynonymous SNV S595C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 287808 chr4 156874916 156874916 G C CTSO Synonymous SNV P28P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.898 287809 chr8 100133575 100133575 G A VPS13B Nonsynonymous SNV D370N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 287810 chr2 1371204 1371204 G A SNTG2 Nonsynonymous SNV M526I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.087 287811 chr2 1371205 1371205 G C SNTG2 Nonsynonymous SNV D527H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 287812 chr4 169336668 169336668 A G rs143264194 DDX60L Nonsynonymous SNV V957A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 287813 chr8 11152709 11152709 A G rs751592211 MTMR9 Synonymous SNV V63V 0 0 0 3 0 0 0.008 0 0 0 0 0 9.569 287814 chr8 11703288 11703288 T A rs768495440 CTSB Nonsynonymous SNV Q144H 0 0 0 3 0 0 0.008 0 0 0 0 0 18.44 287815 chr17 7329940 7329940 G A rs373720670 SPEM2 Synonymous SNV A210A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.885 287816 chr8 121256212 121256212 G A rs770755426 COL14A1 Nonsynonymous SNV G815D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 287817 chr8 121587441 121587441 A C SNTB1 Nonsynonymous SNV W341G 0 0 0 2 0 0 0.005 0 0 0 0 0 27.5 287818 chr14 73029263 73029263 G A rs1050525081 RGS6 Nonsynonymous SNV R473Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 287819 chr14 70039802 70039802 C A CCDC177 Nonsynonymous SNV A180S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 287820 chr13 32893317 32893317 C T rs201523522 BRCA2 Synonymous SNV Y57Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.321 287821 chr17 76047302 76047302 G A rs376154392 TNRC6C Nonsynonymous SNV R720H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 287822 chr5 9119148 9119148 G A rs777269591 SEMA5A Synonymous SNV H629H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.05 287823 chr17 76497195 76497195 G A rs778338973 DNAH17-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.064 287824 chr2 179391806 179391806 G A TTN Nonsynonymous SNV T26905I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 287825 chr13 41340962 41340962 G C MRPS31 Synonymous SNV P120P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.214 287826 chr2 179430397 179430397 G A rs200489046 TTN Nonsynonymous SNV P17756L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.51 287827 chr2 17954484 17954484 A G rs754271322 GEN1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 287828 chr8 144378152 144378152 G C rs745462873 ZNF696 Nonsynonymous SNV E103Q 0 0 0 2 0 0 0.005 0 0 0 0 0 8.922 287829 chr17 7826811 7826811 C G KCNAB3 Nonsynonymous SNV S367T 0 0.003 0 0 0 1 0 0 0 0 0 0 12 287830 chr5 37364037 37364037 A G rs773472602 NUP155 Synonymous SNV A115A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 287831 chr14 96779461 96779461 G A rs200247974 ATG2B Synonymous SNV T1261T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.412 287832 chr17 7909760 7909760 G A GUCY2D Nonsynonymous SNV G369D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 287833 chr5 52233328 52233328 G A rs376461166 ITGA1 Nonsynonymous SNV G1021E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 287834 chr5 52979009 52979009 - AAC rs1056500317 NDUFS4 N163_F164insN 0 0.003 0 0 0 1 0 0 0 0 0 0 287835 chr17 8021550 8021550 G C ALOXE3 Nonsynonymous SNV T52R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.56 287836 chr17 80280142 80280142 G A rs375652146 SECTM1 Synonymous SNV S214S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.425 287837 chr2 201477385 201477385 G A rs771321914 AOX1 Synonymous SNV A439A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 287838 chr5 60241163 60241163 A G rs547258276 NDUFAF2 Synonymous SNV Q27Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.934 287839 chr8 145730690 145730690 T C GPT Nonsynonymous SNV I186T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 287840 chr8 17434817 17434817 G A rs766170524 PDGFRL 0 0 0 3 0 0 0.008 0 0 0 0 0 24.1 287841 chr2 207509221 207509221 T C rs200128853 FAM237A Synonymous SNV H87H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 287842 chr18 13117616 13117616 T C rs141084389 CEP192 Synonymous SNV Y2483Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 287843 chr18 18603595 18603595 C T rs750276864 ROCK1 Nonsynonymous SNV A420T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 287844 chr8 2021484 2021484 T C rs376024606 MYOM2 Nonsynonymous SNV F342L 0 0.003 0 2 0 1 0.005 0 0 0 0 0 13.49 287845 chr18 20573011 20573016 TATAAA - rs757747543 RBBP8 I408_N409del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 287846 chr5 76507011 76507011 G A rs746859495 PDE8B Synonymous SNV A87A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.68 287847 chr2 215843072 215843072 G T rs767287642 ABCA12 Nonsynonymous SNV S1381Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 287848 chr8 22479083 22479083 T G BIN3 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 287849 chr18 43247924 43247924 C T rs779206322 SLC14A2 Nonsynonymous SNV A615V 0 0.003 0 0 0 1 0 0 0 0 0 0 35 287850 chr18 44641546 44641546 C T rs1065170 HDHD2 Nonsynonymous SNV R100Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 287851 chr18 48256064 48256064 C G rs889167744 MAPK4 Nonsynonymous SNV P324R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 287852 chr8 38275813 38275813 G C rs575766741 FGFR1 Nonsynonymous SNV P366A 0 0 0 3 0 0 0.008 0 0 0 0 0 23.8 287853 chr5 107716896 107716896 G A FBXL17 Nonsynonymous SNV P166L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 287854 chr14 23855566 23855566 G A MYH6 Synonymous SNV A1639A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.03 287855 chr18 56202301 56202301 C T rs372855790 ALPK2 Synonymous SNV T1706T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.113 287856 chr2 233037430 233037447 CTGTACCATTTGCACTCC - rs140596642 MIR562 0 0 0.007 0 0 0 0 2 0 0 0 0 287857 chr18 66504113 66504113 A G rs779484643 CCDC102B Nonsynonymous SNV D38G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 287858 chr15 80988003 80988003 - GGGCGC rs771824937 ABHD17C G83_P84insAG 0.001 0 0 0 1 0 0 0 0 0 0 0 287859 chr5 130840394 130840394 C T rs141125237 RAPGEF6 Synonymous SNV E393E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.04 287860 chr2 239140352 239140352 - GGCCTCCGGGCCGCGGTGGCCTCCGGGCCGCGGC LOC643387 0 0 0.007 0 0 0 0 2 0 0 1 0 287861 chr5 140201633 140201633 G C rs782702486 PCDHA5 Synonymous SNV R91R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.749 287862 chr5 140248793 140248793 C T rs782200592 PCDHA11 Synonymous SNV V35V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.698 287863 chr19 10079133 10079133 C T rs537422545 COL5A3 Synonymous SNV P1414P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.97 287864 chr1 71512981 71512981 A C rs764742109 PTGER3 Nonsynonymous SNV W94G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.33 287865 chr5 141318216 141318216 C T rs114133354 DELE1 Synonymous SNV L480L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.09 287866 chr14 58583054 58583054 G A rs771613400 ARMH4 Nonsynonymous SNV T668I 0.003 0 0 0 3 0 0 0 0 0 0 0 2.469 287867 chr2 27280223 27280223 G A rs772561540 AGBL5 Nonsynonymous SNV A530T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 287868 chr19 10335012 10335012 A G rs142570783 S1PR2 Synonymous SNV Y190Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 287869 chr9 100845143 100845143 G C rs147561143 NANS Nonsynonymous SNV V296L 0 0 0 3 0 0 0.008 0 0 0 0 0 25.2 287870 chr9 101602341 101602341 G C GALNT12 Nonsynonymous SNV D424H 0 0 0 3 0 0 0.008 0 0 0 0 0 Uncertain significance 24 287871 chr9 103054849 103054849 C T rs116606949 INVS Synonymous SNV H444H 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.314 287872 chr19 1051549 1051549 C T rs373667015 ABCA7 Nonsynonymous SNV R976C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 287873 chr5 149497353 149497353 G T PDGFRB Nonsynonymous SNV Q925K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.36 287874 chr2 32768426 32768426 C G rs777191070 BIRC6 Nonsynonymous SNV A4137G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 287875 chr5 149754908 149754908 C T rs778321923 TCOF1 Nonsynonymous SNV P422S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.751 287876 chr15 89449079 89449079 G A MFGE8 Synonymous SNV T154T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.777 287877 chr19 10782065 10782065 C T ILF3 Synonymous SNV L89L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 287878 chr19 1085912 1085912 C A rs147739351 ARHGAP45 Nonsynonymous SNV N741K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 287879 chr14 65390839 65390839 A G rs141194013 CHURC1, CHURC1-FNTB Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.2 287880 chr15 91421521 91421521 G A FURIN Nonsynonymous SNV R276H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 287881 chr15 96880840 96880840 G T rs201527820 NR2F2 Nonsynonymous SNV A279S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.813 287882 chr2 46707801 46707801 - CAGCAG TMEM247 Q126_R127insQQ 0 0 0.003 0 0 0 0 1 0 0 0 0 287883 chr2 46707808 46707808 - AGCACGAGGTGGTGATGGAGCAGCTGCAGCGGG TMEM247 Q128_R129insHEVVMEQLQRE 0 0 0.003 0 0 0 0 1 0 0 0 0 287884 chr2 48027422 48027422 C T rs587781462 MSH6 Nonsynonymous SNV T637I 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 26.8 287885 chr19 12917892 12917892 A T rs767723275 RNASEH2A Synonymous SNV A66A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.17 287886 chr5 162886940 162886940 G A rs141206788 NUDCD2 Synonymous SNV R39R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.888 287887 chr2 54482607 54482607 G A TSPYL6 Nonsynonymous SNV R228C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 287888 chr19 13260548 13260548 T C rs778685856 STX10 Nonsynonymous SNV T67A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 287889 chr5 168310295 168310295 G A rs142896905 SLIT3 Nonsynonymous SNV R154C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 287890 chr9 120470895 120470895 G A rs776561489 TLR4 Nonsynonymous SNV D50N 0 0 0 3 0 0 0.008 0 0 0 0 0 11.96 287891 chr5 169135206 169135206 A G rs201626676 DOCK2 Nonsynonymous SNV M473V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.016 287892 chr5 169291313 169291313 G A rs201654163 INSYN2B Synonymous SNV T524T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 10.13 287893 chr16 14311038 14311038 A G rs771602457 MRTFB Synonymous SNV R125R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.8 287894 chr5 176506388 176506388 G A ZNF346 Synonymous SNV G156G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.197 287895 chr2 70031745 70031745 A C rs199640727 ANXA4 Nonsynonymous SNV S60R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 287896 chr2 70031746 70031746 G C rs200730728 ANXA4 Nonsynonymous SNV S60T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.278 287897 chr2 74689403 74689403 G A MOGS Stop gain Q505X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 287898 chr9 128099570 128099570 C G GAPVD1 Nonsynonymous SNV I838M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 287899 chr2 75104410 75104410 C T rs61751209 HK2 Synonymous SNV T331T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 287900 chr5 180057777 180057777 C T FLT4 Nonsynonymous SNV A60T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.129 287901 chr9 131670068 131670068 G A rs753358771 LRRC8A Nonsynonymous SNV V209M 0 0 0 2 0 0 0.005 0 0 0 0 0 14.46 287902 chr3 101431294 101431294 G A rs185615431 PDCL3P4 0 0 0.003 0 0 0 0 1 0 0 0 0 5.794 287903 chr9 134382823 134382823 C T rs766887367 POMT1 Nonsynonymous SNV P63S 0 0 0 2 0 0 0.005 0 0 0 0 0 28 287904 chr9 134955112 134955112 C T rs779053669 MED27 Synonymous SNV R40R 0 0 0 1 0 0 0.003 0 0 0 0 0 16 287905 chr19 18538756 18538756 C T rs142966883 SSBP4 Synonymous SNV C81C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.34 287906 chr6 25727161 25727161 G A rs752949955 H2BC1 Nonsynonymous SNV A9T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.094 287907 chr1 153535998 153535998 T A rs199536820 S100A2 Synonymous SNV P53P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.749 287908 chr19 21606663 21606663 A G ZNF493 Nonsynonymous SNV E273G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 287909 chr3 121126415 121126415 A C rs199913202 STXBP5L Synonymous SNV A971A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.225 287910 chr8 38111164 38111164 A G rs201656753 DDHD2 Nonsynonymous SNV Y631C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 24.2 287911 chr1 156509650 156509650 G A IQGAP3 Nonsynonymous SNV H958Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 287912 chr19 3005495 3005495 C G rs769973277 TLE2 Synonymous SNV T490T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 287913 chr8 41559126 41559126 C T rs147130318 ANK1 Synonymous SNV K801K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.37 287914 chr4 148604999 148604999 T G rs753069673 PRMT9 Nonsynonymous SNV H47P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 287915 chr3 122259325 122259325 A C PARP9 Nonsynonymous SNV S622A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 287916 chr3 122259327 122259327 C A rs751697051 PARP9 Nonsynonymous SNV R621L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 287917 chr19 33116846 33116846 G A rs774132281 ANKRD27 Synonymous SNV S521S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 287918 chr15 42741998 42741998 T C rs368393945 ZNF106 Synonymous SNV K801K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 287919 chr15 43501533 43501533 G A rs753335525 EPB42 Synonymous SNV T287T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.513 287920 chr15 43687816 43687816 A G rs766306906 TUBGCP4 Synonymous SNV E367E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.549 287921 chr16 57695840 57695840 C T rs748659368 ADGRG1 Synonymous SNV V637V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.39 287922 chr9 21974640 21974640 C G rs45456595 CDKN2A Nonsynonymous SNV G63R 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.658 287923 chr9 26995656 26995656 A G rs142770652 LRRC19 Nonsynonymous SNV S326P 0 0 0 2 0 0 0.005 0 0 0 0 0 7.644 287924 chr6 43323105 43323105 C T rs201877430 ZNF318 Nonsynonymous SNV R656H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 287925 chr16 67671730 67671730 C T rs146712579 CTCF Synonymous SNV N385N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.423 287926 chr16 68057031 68057031 C G DDX28 Synonymous SNV T25T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 287927 chr16 69363029 69363029 G A PDF Nonsynonymous SNV R210C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 287928 chr16 70690547 70690547 G A rs763664931 IL34 Nonsynonymous SNV E69K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 287929 chr9 101594162 101594162 C T rs150946638 GALNT12 Synonymous SNV D280D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.36 287930 chr9 37732312 37732312 T C FRMPD1 Synonymous SNV D290D 0 0 0 2 0 0 0.005 0 0 0 0 0 3.345 287931 chr9 37768175 37768175 C A TRMT10B Nonsynonymous SNV P97T 0 0 0 2 0 0 0.005 0 0 0 0 0 13.05 287932 chr3 142136002 142136002 A G rs117774802 XRN1 Synonymous SNV H472H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.828 287933 chr3 148597614 148597614 G A rs149768841 CPA3 Nonsynonymous SNV D172N 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 25 287934 chr9 107593382 107593382 C T rs143299210 ABCA1 Synonymous SNV G572G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.01 287935 chr6 54254663 54254663 C T rs139720660 TINAG Synonymous SNV S457S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.75 287936 chr19 41074018 41074018 G A rs751138885 SPTBN4 Synonymous SNV A2262A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 287937 chr9 116018501 116018501 C G rs2233915 SLC31A1 Nonsynonymous SNV P25A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.843 287938 chr19 42260730 42260730 G A rs781837415 CEACAM6 Nonsynonymous SNV S96N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.315 287939 chr9 117554712 117554712 T G rs147641716 TNFSF15 Synonymous SNV G33G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.486 287940 chr6 83831747 83831747 A G DOP1A Nonsynonymous SNV K391E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 287941 chr9 96080765 96080765 G A rs200539322 C9orf129 Nonsynonymous SNV A169V 0 0 0 3 0 0 0.008 0 0 0 0 0 3.908 287942 chr6 88853669 88853669 A C rs758413605 CNR1 Nonsynonymous SNV V442G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 287943 chr3 183967592 183967592 C T EEF1AKMT4, EEF1AKMT4-ECE2 Nonsynonymous SNV A37V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 287944 chrX 110978322 110978322 C T ALG13 Nonsynonymous SNV T672I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.72 287945 chr6 99893693 99893693 T C rs112671344 USP45 Nonsynonymous SNV Q594R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 287946 chr6 99893698 99893698 C A rs112157723 USP45 Nonsynonymous SNV K592N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.52 287947 chrX 124030029 124030029 G A rs5958616 TENM1 Synonymous SNV S93S 0 0 0.003 3 0 0 0.008 1 0 0 0 1 8.817 287948 chr6 109837652 109837652 T C rs973160740 AK9 Nonsynonymous SNV H1276R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.733 287949 chr6 110679449 110679449 C G rs778633816 METTL24 Nonsynonymous SNV R9S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 287950 chrX 134713936 134713936 C G INTS6L Nonsynonymous SNV N744K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.534 287951 chr6 111697106 111697106 T C rs141930446 REV3L Nonsynonymous SNV T818A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 287952 chr6 112493905 112493905 C G rs782384976 LAMA4 Nonsynonymous SNV D487H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 287953 chr3 196457932 196457932 T C PIGX Nonsynonymous SNV I201T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 287954 chr15 92706221 92706221 G A rs146779228 SLCO3A1 Synonymous SNV L663L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.807 287955 chr3 38035775 38035775 G A rs147043663 VILL Synonymous SNV T53T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.665 287956 chr6 137330469 137330469 A G rs534517805 IL20RA Synonymous SNV T77T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.661 287957 chr6 142455822 142455822 G A rs547675373 GJE1 Synonymous SNV A127A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.552 287958 chr6 144167319 144167319 A C rs909221467 LTV1 Synonymous SNV A89A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.49 287959 chr6 144750730 144750730 G T UTRN Nonsynonymous SNV Q236H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.515 287960 chrX 46943831 46943831 T C RGN Nonsynonymous SNV S60P 0 0 0 3 0 0 0.008 0 0 0 0 1 23.7 287961 chr16 1536463 1536463 G A rs146273460 PTX4 Nonsynonymous SNV T300M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 287962 chr16 19718407 19718407 T C rs372826065 KNOP1 Nonsynonymous SNV N378S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 287963 chr16 20359567 20359567 G A rs780733403 UMOD Synonymous SNV C317C 0.003 0 0 0 3 0 0 0 0 0 0 0 9.883 287964 chr6 159185758 159185758 G A rs547171687 MIR3918 0 0.003 0 0 0 1 0 0 0 0 0 0 1.752 287965 chr19 51376753 51376753 C T rs112897428 KLK2 Synonymous SNV I8I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.17 287966 chr3 48476475 48476475 G A rs377106953 CCDC51 Nonsynonymous SNV R22W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 287967 chr6 161532946 161532946 C T rs41267837 MAP3K4 Nonsynonymous SNV A1438V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 287968 chr3 52442539 52442539 G A rs572063023 BAP1 Nonsynonymous SNV T69M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.3 287969 chr19 52887169 52887169 T C ZNF880 Synonymous SNV F112F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.072 287970 chr6 168352576 168352576 G A rs963086126 AFDN Synonymous SNV S1490S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.921 287971 chr6 170626965 170626965 G A rs769513162 FAM120B Nonsynonymous SNV V175I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 287972 chr3 53834369 53834369 G A rs147973409 CACNA1D Nonsynonymous SNV E1658K 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 23 287973 chr17 36719623 36719623 G C SRCIN1 Nonsynonymous SNV P226A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 287974 chr3 57494930 57494930 A G rs753790194 DNAH12 Nonsynonymous SNV V160A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 287975 chr7 2748728 2748728 C T rs143141138 AMZ1 Synonymous SNV F207F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.77 287976 chr7 4119173 4119173 A T rs368849339 SDK1 Nonsynonymous SNV Y1094F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.44 287977 chr3 9052029 9052029 G C SRGAP3 Nonsynonymous SNV D706E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 287978 chr3 9785459 9785459 C T rs147641228 BRPF1 Nonsynonymous SNV R837C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 287979 chr3 9845568 9845568 - C ARPC4 Frameshift insertion Q35Pfs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 287980 chr3 9868737 9868737 G A rs202230845 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV V454M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 287981 chr7 14216519 14216519 C T rs200168973 DGKB Nonsynonymous SNV S732N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 287982 chr16 50733451 50733451 - GAGCTG NOD2 L17_L18insEL 0.003 0 0 0 3 0 0 0 0 0 0 0 287983 chr4 120225467 120225467 G T rs1025680513 C4orf3 Nonsynonymous SNV T45N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 287984 chr9 89561554 89561554 G A GAS1 Synonymous SNV I47I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.395 287985 chr4 122599580 122599582 ACC - rs763820845 ANXA5 V155del 0 0 0.003 0 0 0 0 1 0 0 0 0 287986 chr7 35288377 35288377 C T rs776152314 TBX20 Nonsynonymous SNV V153I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 287987 chr9 91994276 91994276 C T SEMA4D Synonymous SNV L644L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.409 287988 chr16 703442 703442 C T WDR90 Synonymous SNV H408H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.699 287989 chr4 1360207 1360207 C T rs201394250 UVSSA Nonsynonymous SNV R426W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 287990 chr4 144619592 144619592 G A rs199609193 FREM3 Nonsynonymous SNV T746I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 287991 chr4 147830322 147830322 C G rs201837176 TTC29 Nonsynonymous SNV A86P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 287992 chr19 58907568 58907568 - AGG rs777133427 RNF225 E45_G46insE 0 0.003 0 0 0 1 0 0 0 0 0 0 287993 chr19 6373009 6373009 C T rs777018263 ALKBH7 Nonsynonymous SNV R60C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 287994 chr19 6381018 6381018 C G rs773356588 GTF2F1 Synonymous SNV P376P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 287995 chr2 38958955 38958955 C T rs114039092 GALM Synonymous SNV F285F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.33 287996 chr4 159048663 159048663 T A rs768677634 GASK1B Stop gain R486X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 287997 chrX 153135274 153135274 G A rs200768501 L1CAM Synonymous SNV N364N 0 0.005 0 0 0 2 0 0 0 1 0 0 Conflicting interpretations of pathogenicity 8.415 287998 chr19 7754245 7754245 C T rs548023601 FCER2 Nonsynonymous SNV R266H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 287999 chr16 841301 841301 G A rs768137200 CHTF18 Synonymous SNV K345K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.264 288000 chr4 184182194 184182194 G A WWC2 Nonsynonymous SNV S473N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.183 288001 chr16 847077 847077 G A rs754194710 CHTF18 Synonymous SNV A906A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.056 288002 chr16 84738466 84738466 G T rs1008199431 USP10 Nonsynonymous SNV Q11H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.885 288003 chrX 36298650 36298650 A T CFAP47 Nonsynonymous SNV H2498L 0 0.005 0 0 0 2 0 0 0 1 0 0 0.088 288004 chr7 77797390 77797390 G A rs779558075 MAGI2 Synonymous SNV A799A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 288005 chr16 855601 855601 C G rs1026139473 PRR25 Synonymous SNV G53G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.797 288006 chr4 187070764 187070764 C T rs535255823 FAM149A Nonsynonymous SNV T232M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 288007 chr2 70906074 70906074 G A rs145886276 ADD2 Nonsynonymous SNV T398M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 288008 chr4 2933646 2933646 G A rs200697937 MFSD10 Nonsynonymous SNV R274C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 288009 chrY 21897567 21897567 G T KDM5D Nonsynonymous SNV P186T 0.002 0.005 0 0 2 2 0 0 1 1 0 0 21 288010 chr7 99129505 99129505 A T rs144929050 ZKSCAN5 Nonsynonymous SNV Q645L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.05 288011 chr17 68172153 68172153 C T rs202067116 KCNJ2 Nonsynonymous SNV R325C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 288012 chr16 89715851 89715851 G A rs185258649 CHMP1A Nonsynonymous SNV P47L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288013 chr16 89952262 89952262 G A rs147838020 TCF25 Nonsynonymous SNV G146R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 288014 chr4 47643949 47643949 T G rs757124949 CORIN Nonsynonymous SNV Q625P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 288015 chr4 54967802 54967802 A T rs539813189 GSX2 Nonsynonymous SNV T210S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 288016 chr4 57180918 57180918 G A rs185302995 KIAA1211 Nonsynonymous SNV G417E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 288017 chr4 57843546 57843546 T C NOA1 Nonsynonymous SNV Q69R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.68 288018 chr1 6012797 6012797 T A NPHP4 Nonsynonymous SNV E258V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 288019 chr17 16323546 16323546 C T rs140921785 TRPV2 Synonymous SNV T106T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.3 288020 chr4 6083345 6083345 G A rs61731760 JAKMIP1 Synonymous SNV N199N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.568 288021 chr17 16526979 16526979 C T rs563043616 ZNF624 Synonymous SNV Q407Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.415 288022 chr1 110211933 110211933 A G rs2227960 GSTM2 Nonsynonymous SNV T67A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.447 288023 chr4 6303541 6303541 C T rs71524375 WFS1 Synonymous SNV C673C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.274 288024 chr4 6303991 6303991 C T rs1801215 WFS1 Synonymous SNV I823I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.2 288025 chr1 110768779 110768779 G A rs777571978 KCNC4 Nonsynonymous SNV A600T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 288026 chr1 9416433 9416433 C T rs942575060 SPSB1 Synonymous SNV Y161Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.028 288027 chr17 19555891 19555891 G A rs200806435 ALDH3A2 Synonymous SNV L139L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.04 288028 chr7 103124179 103124179 C T rs753769576 RELN Nonsynonymous SNV G3368R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 288029 chr4 79186216 79186216 C T rs200053639 FRAS1 Nonsynonymous SNV P214L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 32 288030 chr1 118548203 118548203 G A SPAG17 Nonsynonymous SNV S1537F 0 0.003 0 0 0 1 0 0 0 0 0 0 18.9 288031 chr1 119929273 119929273 C T rs140054426 HAO2 Nonsynonymous SNV T197I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 288032 chr4 79792055 79792055 A G BMP2K Synonymous SNV Q450Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 288033 chr4 81124593 81124593 G A PRDM8 Synonymous SNV K659K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.275 288034 chr1 12835693 12835693 A - rs758003813 PRAMEF12 K99Nfs*29 0 0.003 0 0 0 1 0 0 0 0 0 0 288035 chr1 145440661 145440661 G A TXNIP Synonymous SNV K232K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.263 288036 chr1 145456652 145456652 G A rs781980008 POLR3GL Synonymous SNV D191D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.863 288037 chr1 151139475 151139475 G A SCNM1, TNFAIP8L2-SCNM1 Nonsynonymous SNV R28H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 288038 chr4 91230663 91230663 A T rs376784766 CCSER1 Nonsynonymous SNV I410F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.049 288039 chr1 20141148 20141148 G A rs41264111 RNF186 Synonymous SNV H149H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.782 288040 chr7 138252353 138252353 C A rs148347079 TRIM24 Nonsynonymous SNV P519Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 288041 chr2 170034473 170034473 G A rs139363553 LRP2 Synonymous SNV F3411F 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 11.99 288042 chr2 171256772 171256777 TCAACA - rs552913139 MYO3B H624_Q625del 0 0 0 1 0 0 0.003 0 0 0 0 0 288043 chr1 26370002 26370002 G A rs147918642 SLC30A2 Synonymous SNV V104V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 288044 chr2 177017353 177017353 G T HOXD4 Nonsynonymous SNV G151C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 288045 chr7 150934905 150934905 C T rs146815169 CHPF2 Nonsynonymous SNV A486V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 288046 chr1 27873847 27873847 G A rs138077923 AHDC1 Nonsynonymous SNV P1594S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 288047 chr1 156948082 156948082 G A rs765294400 ARHGEF11 Nonsynonymous SNV P142S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 288048 chr1 31210520 31210520 C T LAPTM5 Nonsynonymous SNV M179I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 288049 chr1 158517410 158517410 C G rs766046896 OR6Y1 Nonsynonymous SNV M162I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.39 288050 chr1 32151317 32151317 G A rs745543018 COL16A1 Nonsynonymous SNV R647C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 288051 chr7 156468397 156468397 A - rs745367653 RNF32 I232Sfs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 288052 chr5 138209319 138209319 T C LRRTM2 Nonsynonymous SNV N311D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 288053 chr1 159898068 159898068 G A IGSF9 Nonsynonymous SNV P1037L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 288054 chr5 140027129 140027129 G C rs35672074 NDUFA2 Nonsynonymous SNV L14V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.779 288055 chr1 160808745 160808745 C T rs368410544 CD244 Synonymous SNV R158R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 288056 chr5 140237650 140237650 C T rs200661444 PCDHA10 Stop gain Q673X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 288057 chr1 44057557 44057557 C G rs139284587 PTPRF Nonsynonymous SNV P536A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.02 288058 chr5 150603522 150603522 T C rs138139529 CCDC69 Nonsynonymous SNV R4G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.442 288059 chr1 175130132 175130132 G T rs372300059 KIAA0040 Synonymous SNV A6A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.013 288060 chr8 22210672 22210672 T C rs770571154 PIWIL2 Synonymous SNV F868F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 288061 chr8 23001973 23001973 T C TNFRSF10D Nonsynonymous SNV Q315R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 288062 chr5 160039918 160039918 C T rs748872879 ATP10B Nonsynonymous SNV E890K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 288063 chr5 160067517 160067517 G A ATP10B Synonymous SNV I289I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 288064 chr8 23146573 23146573 T A R3HCC1 Nonsynonymous SNV I52N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.21 288065 chr18 6950939 6950939 C A rs769646665 LAMA1 Nonsynonymous SNV A2747S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 288066 chr1 57378090 57378090 C T rs201408238 C8A Synonymous SNV H465H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.299 288067 chr5 173317206 173317206 C A rs149568017 CPEB4 Nonsynonymous SNV P157H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 288068 chr8 28218466 28218466 T C rs201650389 ZNF395 Nonsynonymous SNV K59R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.335 288069 chr5 176886181 176886181 G A rs567476563 DBN1 Synonymous SNV V80V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.565 288070 chr8 30694577 30694577 C T rs150606321 TEX15 Nonsynonymous SNV G3075R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 24.9 288071 chr7 1519199 1519199 G A rs951684567 INTS1 Nonsynonymous SNV P1399L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 288072 chr5 178039430 178039430 G A rs56336368 CLK4 Synonymous SNV P346P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 288073 chr8 38831930 38831930 C A rs777230452 HTRA4 Nonsynonymous SNV P50T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 288074 chr8 38831938 38831938 G A rs762443791 HTRA4 Synonymous SNV L52L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.14 288075 chr8 41476425 41476425 A G rs769444764 GPAT4 Synonymous SNV E397E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.573 288076 chr17 60779087 60779087 T C rs766131670 MARCHF10 Nonsynonymous SNV I802V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 288077 chr8 54978313 54978313 C A LYPLA1 Synonymous SNV P54P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.18 288078 chr8 86377658 86377658 T C rs759693878 CA2 Nonsynonymous SNV M3T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.33 288079 chr1 91985816 91985816 T C CDC7 Nonsynonymous SNV I437T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 288080 chr1 201952168 201952168 C T rs201819747 RNPEP Nonsynonymous SNV S125F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.28 288081 chr5 43492891 43492891 A G rs962564266 C5orf34 Synonymous SNV H472H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.559 288082 chr19 15342601 15342601 G A EPHX3 Synonymous SNV G105G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 288083 chr8 107782392 107782392 C A rs138488793 ABRA Synonymous SNV G9G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.498 288084 chr8 110439337 110439337 G T PKHD1L1 Synonymous SNV A984A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.678 288085 chr17 7258642 7258642 C T TMEM95 Nonsynonymous SNV A40V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 288086 chr17 726892 726892 C T rs754274169 NXN Nonsynonymous SNV V90I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 288087 chr19 16870119 16870119 C T rs776060633 NWD1 Nonsynonymous SNV P412L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 288088 chr1 110655610 110655610 C T rs751670695 UBL4B Nonsynonymous SNV L152F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 288089 chr5 72286549 72286549 A T FCHO2 Nonsynonymous SNV E118V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 288090 chr5 72286550 72286550 A T FCHO2 Nonsynonymous SNV E118D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 288091 chr8 124796730 124796730 G C FAM91A1 Nonsynonymous SNV V242L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 288092 chr8 125110039 125110039 G A rs201570190 FER1L6 Nonsynonymous SNV V1600M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 288093 chr8 125520723 125520723 C T rs992681192 TATDN1 Nonsynonymous SNV G25R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 288094 chr8 126443170 126443170 C T TRIB1 Nonsynonymous SNV A9V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.08 288095 chr5 76129409 76129409 A G F2RL1 Nonsynonymous SNV Y326C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 288096 chr1 118554911 118554911 T C SPAG17 Nonsynonymous SNV I1458V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 288097 chr1 150636210 150636210 T C rs1025679105 GOLPH3L Nonsynonymous SNV I71M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 288098 chr19 22270813 22270813 A G rs367608891 ZNF257 Synonymous SNV P11P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.008 288099 chr8 144103132 144103132 C T rs201707330 LY6E Nonsynonymous SNV R108W 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.6 288100 chr19 22270839 22270839 A C ZNF257 Nonsynonymous SNV Q20P 0.003 0.003 0 0 4 1 0 0 0 0 0 0 7.97 288101 chr19 22270840 22270840 A T rs926743645 ZNF257 Nonsynonymous SNV Q20H 0.003 0.003 0 0 4 1 0 0 0 0 0 0 10.53 288102 chr1 151377815 151377815 G A rs201461621 POGZ Synonymous SNV R1137R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.606 288103 chr19 22270841 22270841 A G ZNF257 Nonsynonymous SNV K21E 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.013 288104 chr19 22270846 22270846 C G rs74572877 ZNF257 Synonymous SNV V22V 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.177 288105 chr6 107954917 107954917 C T SOBP Nonsynonymous SNV T290I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 288106 chr6 110299997 110299997 T C rs187140710 GPR6 Nonsynonymous SNV C7R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.87 288107 chr19 2328460 2328462 TTC - LSM7 K9del 0.001 0 0 0 1 0 0 0 0 0 0 0 288108 chr8 145171094 145171094 G C WDR97 Synonymous SNV L1589L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 288109 chr8 145557696 145557696 C T rs563902808 SCRT1 Synonymous SNV E66E 0 0.003 0 0 0 1 0 0 0 0 0 0 5.441 288110 chr6 129786380 129786380 A G LAMA2 Nonsynonymous SNV N2416D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 288111 chr19 3614487 3614498 GATGCCCTGGAA - CACTIN F418_I421del 0.001 0 0 0 1 0 0 0 0 0 0 0 288112 chr6 139206931 139206931 T C rs376318780 ECT2L Synonymous SNV I741I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.801 288113 chr9 5920433 5920433 C A KIAA2026 Nonsynonymous SNV A1855S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.04 288114 chr6 147062375 147062375 A C ADGB Nonsynonymous SNV K1049Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 288115 chr9 6990510 6990510 C T rs151291155 KDM4C Nonsynonymous SNV A591V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 288116 chr1 24424419 24424419 C T rs527972499 MYOM3 Nonsynonymous SNV V247I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 288117 chr1 245849417 245849417 G A KIF26B Synonymous SNV Q1044Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.822 288118 chr19 37642615 37642615 - TG ZNF585A Frameshift insertion D729Afs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 288119 chr19 37642617 37642618 AG - ZNF585A T728Rfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 288120 chr1 24671397 24671397 C T rs114518869 GRHL3 Nonsynonymous SNV S431L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.65 288121 chr9 21304736 21304736 A G rs370774278 IFNA5 Nonsynonymous SNV S174P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.31 288122 chr1 247323024 247323024 A G rs770806743 ZNF124 Nonsynonymous SNV V41A 0 0.003 0 0 0 1 0 0 0 0 0 0 25 288123 chr6 155565875 155565875 A G rs144709125 TIAM2 Synonymous SNV A92A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 288124 chr18 31319568 31319568 A T rs370620373 ASXL3 Nonsynonymous SNV M734L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.95 288125 chr6 159672487 159672487 C A FNDC1 Nonsynonymous SNV T1663N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 288126 chr1 248004835 248004835 G A rs558215645 OR11L1 Nonsynonymous SNV R122C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 288127 chr9 35676347 35676347 G A rs780478111 CA9 Synonymous SNV G267G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.003 288128 chr9 35681008 35681008 G A rs146893720 CA9 Nonsynonymous SNV E456K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 288129 chr6 160828200 160828200 G A SLC22A3 Nonsynonymous SNV G221R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 288130 chr18 34205592 34205592 G A rs750825580 FHOD3 Nonsynonymous SNV R359H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288131 chr1 175049309 175049309 A C rs200670280 TNN Synonymous SNV P265P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 288132 chr18 44400960 44400960 T C PIAS2 Synonymous SNV S528S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.591 288133 chr6 168949838 168949838 A G rs375743211 SMOC2 Nonsynonymous SNV T198A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 288134 chr9 79862268 79862268 G C rs772138844 VPS13A Nonsynonymous SNV S665T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.017 288135 chr3 100963249 100963249 A T rs199724338 IMPG2 Synonymous SNV A642A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 0.002 288136 chr9 90502339 90502339 C T rs35316191 SPATA31E1 Synonymous SNV S979S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 288137 chr1 26772887 26772887 T C rs200277808 DHDDS Nonsynonymous SNV I135T 0 0.003 0 0 0 1 0 0 0 0 0 0 24 288138 chr6 25862609 25862609 G A rs756988365 SLC17A3 Nonsynonymous SNV T52M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 288139 chr1 27875993 27875993 G A rs60039430 AHDC1 Synonymous SNV A878A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.942 288140 chr1 27877795 27877795 G A rs75930951 AHDC1 Nonsynonymous SNV P278S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.22 288141 chr1 28600574 28600574 C T rs114922467 SESN2 Nonsynonymous SNV H309Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.68 288142 chr1 29139049 29139049 A G rs111622802 OPRD1 Nonsynonymous SNV I52V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 288143 chr1 186643768 186643768 A G rs5273 PTGS2 Nonsynonymous SNV V511A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 288144 chr1 32042897 32042897 G A TINAGL1 Nonsynonymous SNV E50K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 288145 chr1 33099666 33099666 C T rs926437027 ZBTB8OS Nonsynonymous SNV A49T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 288146 chr1 200562799 200562799 C T rs759631922 KIF14 Nonsynonymous SNV R392H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 288147 chr9 107456799 107456799 - TG rs767435137 OR13D1 Frameshift insertion E34Wfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 288148 chr1 36645279 36645279 C A MAP7D1 Nonsynonymous SNV A710D 0 0.003 0 0 0 1 0 0 0 0 0 0 18.68 288149 chr6 34497212 34497212 A G rs140286379 PACSIN1 Synonymous SNV K165K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.471 288150 chr6 34512140 34512140 C G SPDEF Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.87 288151 chr9 111741641 111741641 C T rs986233987 CTNNAL1 Nonsynonymous SNV E341K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 288152 chr6 36274107 36274107 G A rs750116578 PNPLA1 Nonsynonymous SNV V389M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.003 288153 chr6 36275471 36275471 A G rs200148971 PNPLA1 Nonsynonymous SNV K440R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.319 288154 chr1 202573662 202573662 C G rs777807547 SYT2 Nonsynonymous SNV C89S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.59 288155 chr6 36922549 36922549 T C rs762064253 PI16 Nonsynonymous SNV C5R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 288156 chr1 204401338 204401338 T A rs148904175 PIK3C2B Nonsynonymous SNV N1382I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 288157 chr19 10092765 10092765 T A rs138236471 COL5A3 Synonymous SNV G812G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.664 288158 chr1 41976356 41976356 G T rs570598805 HIVEP3 Nonsynonymous SNV S2328R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.594 288159 chr6 39073241 39073241 G A rs141609699 SAYSD1 Synonymous SNV R173R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 288160 chr1 207307809 207307809 G A rs141825051 C4BPA Nonsynonymous SNV R382H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 288161 chr1 207641882 207641882 C T rs533297833 CR2 Synonymous SNV L152L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.69 288162 chr1 208206809 208206809 C T rs760158975 PLXNA2 Nonsynonymous SNV R1637Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 288163 chr1 209790791 209790791 C T rs115239928 LAMB3 Synonymous SNV A1064A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.62 288164 chr1 46180008 46180008 C A IPP Synonymous SNV V480V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.95 288165 chr19 10665976 10665976 T G rs562739044 KRI1 Nonsynonymous SNV K556T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 288166 chr19 11217303 11217303 C T rs150673992 LDLR Nonsynonymous SNV R212W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 288167 chr6 46133233 46133233 T C rs778573422 ENPP5 Synonymous SNV E205E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.13 288168 chr6 46659746 46659746 G T TDRD6 Nonsynonymous SNV C1294F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 288169 chr19 11350463 11350463 C T rs778228300 ANGPTL8 Synonymous SNV N50N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 288170 chr1 51439852 51439852 C T CDKN2C Synonymous SNV T139T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.6 288171 chr8 195575 195575 G A rs768732532 ZNF596 Nonsynonymous SNV R243K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 288172 chr1 52867880 52867880 T A ORC1 Nonsynonymous SNV T6S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 288173 chr9 126133801 126133801 G A rs148397660 CRB2 Nonsynonymous SNV G794S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.79 288174 chr8 2007327 2007327 T C rs770694689 MYOM2 Nonsynonymous SNV I205T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 288175 chr3 140282859 140282859 G C rs781242769 CLSTN2 Nonsynonymous SNV V847L 0 0 0 3 0 0 0.008 0 0 0 0 0 8.511 288176 chr9 129595630 129595630 C T rs749857953 ZBTB43 Nonsynonymous SNV T281M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.007 288177 chr6 55926458 55926458 C T COL21A1 Nonsynonymous SNV A130T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.78 288178 chr19 57723834 57723834 T G ZNF264 Nonsynonymous SNV C457G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 288179 chr9 130885289 130885289 C T rs751482704 PTGES2 Nonsynonymous SNV G271R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 288180 chr9 131046828 131046828 G A rs747000368 SWI5 Nonsynonymous SNV E156K 0 0.003 0 0 0 1 0 0 0 0 0 0 23 288181 chr6 71185401 71185401 A G rs773025585 FAM135A Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.218 288182 chr9 131823508 131823508 A T rs776698562 MIGA2 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 288183 chr6 79607589 79607589 G T rs200615035 IRAK1BP1 Nonsynonymous SNV C142F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 288184 chr3 167507022 167507022 C G SERPINI1 Nonsynonymous SNV R36G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 288185 chr19 15659036 15659037 GC - rs764474903 CYP4F22 R419Hfs*24 0.001 0 0 0 1 0 0 0 0 0 0 0 288186 chr9 134350306 134350306 G A rs201375989 PRRC2B Synonymous SNV P930P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.044 288187 chr6 88173914 88173914 C T rs189319976 CFAP206 Synonymous SNV S605S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.683 288188 chr1 234744345 234744345 A G rs137922901 IRF2BP2 Nonsynonymous SNV V299A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.694 288189 chr9 136338665 136338665 C T rs782100165 SLC2A6 Nonsynonymous SNV R365K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.094 288190 chr1 78591577 78591577 A - GIPC2 A170Qfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 288191 chr7 100550320 100550320 A C rs566761970 MUC3A Nonsynonymous SNV T301P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 288192 chr9 139753246 139753246 C T rs116894068 MAMDC4 Nonsynonymous SNV P966L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 288193 chr9 139890130 139890130 G T rs2292923 CLIC3 Nonsynonymous SNV P38H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 288194 chr1 86173356 86173356 C T rs147416935 ZNHIT6 Synonymous SNV P204P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.66 288195 chr9 140262396 140262396 C T rs756751194 EXD3 Nonsynonymous SNV V170I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.26 288196 chr9 140777403 140777403 C T rs775240573 LOC100133077 0 0.003 0 0 0 1 0 0 0 0 0 0 5.026 288197 chr10 3207513 3207513 G A rs576962834 PITRM1 Nonsynonymous SNV R151W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 288198 chr7 101892193 101892193 C A rs185988286 CUX1 Synonymous SNV P1474P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 288199 chr2 5833033 5833033 C T rs780576917 SOX11 Synonymous SNV S60S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 288200 chr2 9661420 9661420 T C ADAM17 Nonsynonymous SNV E290G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.74 288201 chr19 30303646 30303646 C T rs771972554 CCNE1 Nonsynonymous SNV S10L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 288202 chr19 3057683 3057683 A G rs747113305 TLE5 Synonymous SNV Y61Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 288203 chr1 94343017 94343017 T C DNTTIP2 Synonymous SNV E158E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 288204 chr1 94343195 94343195 T C DNTTIP2 Nonsynonymous SNV H99R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.103 288205 chr1 94655637 94655637 T C ARHGAP29 Synonymous SNV V364V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.67 288206 chr10 11805283 11805283 G A rs201396395 ECHDC3 Nonsynonymous SNV G218R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 288207 chr2 10747407 10747407 A C rs146061896 NOL10 Nonsynonymous SNV F327V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 288208 chr7 102953397 102953397 G A rs780809799 DNAJC2 Synonymous SNV Y543Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.113 288209 chr7 105187707 105187707 C G rs144994876 RINT1 Nonsynonymous SNV R178G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.1 288210 chr19 622367 622367 C T rs115950441 POLRMT Nonsynonymous SNV E545K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.266 288211 chr7 122033505 122033505 G C rs199643380 CADPS2 Nonsynonymous SNV Q954E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.647 288212 chr2 23865531 23865531 G A rs376731970 KLHL29 Nonsynonymous SNV A251T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 288213 chr10 24669861 24669861 T A KIAA1217 Nonsynonymous SNV L140I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 288214 chr20 17639936 17639936 T G RRBP1 Nonsynonymous SNV Q406P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.013 288215 chr20 18143108 18143108 T C rs919794112 KAT14 Nonsynonymous SNV V397A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.53 288216 chr10 27295868 27295868 - T rs762275496 ANKRD26 Frameshift insertion N1658Kfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 288217 chr2 26677571 26677571 C T rs79027679 DRC1 Nonsynonymous SNV S659L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.1 288218 chr7 127970933 127970933 T G RBM28 Nonsynonymous SNV Q215H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 288219 chr10 28233216 28233216 C T rs773935799 ARMC4 Nonsynonymous SNV A85T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 288220 chr20 21690080 21690080 A T PAX1 Nonsynonymous SNV E427V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 288221 chr2 27464956 27464956 G A rs762035791 CAD Nonsynonymous SNV V1958I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 288222 chr7 131853148 131853148 C T rs73155258 PLXNA4 Nonsynonymous SNV A1401T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 288223 chr2 27861811 27861811 A C rs72819557 GPN1 Nonsynonymous SNV Q115H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 288224 chr2 27880364 27880364 G A rs375571980 SUPT7L Nonsynonymous SNV R63C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288225 chr2 27886696 27886696 G C rs187724093 SLC4A1AP Nonsynonymous SNV S26T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 288226 chr10 46970557 46970557 C G rs539603460 LOC102724488 Nonsynonymous SNV G86R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 288227 chr4 25314478 25314478 G C rs201763036 ZCCHC4 Nonsynonymous SNV S16T 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.013 288228 chr4 31144294 31144294 G C rs201367943 PCDH7 Nonsynonymous SNV M1197I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.73 288229 chr20 33588958 33588958 C T rs199538196 MYH7B Synonymous SNV A1866A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.84 288230 chr20 34025212 34025212 G T rs61754581 GDF5 Nonsynonymous SNV P166H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 21.9 288231 chr20 35243746 35243746 G A rs201124763 SLA2 Synonymous SNV R138R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 288232 chr8 145017980 145017980 G A rs782233203 PLEC Nonsynonymous SNV R27C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.97 288233 chr20 35860772 35860772 C T rs759623346 RPN2 Nonsynonymous SNV P395L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 288234 chr20 36870011 36870011 G T rs145423095 KIAA1755 Synonymous SNV A174A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.279 288235 chr20 39986549 39986549 G A rs41277020 LPIN3 Synonymous SNV S690S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.82 288236 chr2 61390219 61390219 C T rs141729970 C2orf74 Nonsynonymous SNV P9L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 288237 chr2 61413822 61413822 - CTAT rs201718702 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 288238 chr2 61415976 61415976 C G rs146305168 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 288239 chr7 1784308 1784308 C T rs370941771 ELFN1 Nonsynonymous SNV R26C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.2 288240 chr20 47691884 47691884 G C CSE1L Nonsynonymous SNV D332H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.8 288241 chr10 73768091 73768091 C T rs779115203 CHST3 Synonymous SNV F434F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.675 288242 chr7 2566764 2566764 T C rs143421936 MIR4648 0 0 0.003 0 0 0 0 1 0 0 0 0 3.946 288243 chr19 44771231 44771231 C T ZNF233 Stop gain Q119X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.617 288244 chr2 74902732 74902732 C T rs758154460 SEMA4F Stop gain Q330X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 288245 chr2 75881881 75881881 A C rs772770821 MRPL19 Nonsynonymous SNV E165D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 288246 chr2 75881886 75881886 A - rs776092649 MRPL19 Y167Lfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 288247 chr7 28280344 28280344 G A rs116601787 JAZF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.557 288248 chr7 30491575 30491575 G A rs199475902 NOD1 Synonymous SNV S486S 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 1.106 288249 chr2 88485514 88485514 G A rs772532173 THNSL2 Nonsynonymous SNV A443T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 288250 chr10 91522546 91522546 T C KIF20B Nonsynonymous SNV V1648A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 288251 chr4 88116571 88116571 A G rs201280463 KLHL8 Nonsynonymous SNV S41P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 288252 chr20 58574675 58574675 T - CDH26 L18Rfs*38 0 0.003 0 0 0 1 0 0 0 0 0 0 288253 chr2 97505545 97505545 - AG rs765717120 ANKRD23 Frameshift insertion H248Cfs*13 0.001 0 0.007 0 1 0 0 2 0 0 0 0 288254 chr2 99688287 99688287 C T rs753082629 TSGA10 Nonsynonymous SNV R221H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 288255 chr7 36373742 36373742 G A rs186645461 KIAA0895 Synonymous SNV N330N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.508 288256 chr20 60878783 60878783 C T rs115562292 ADRM1 Synonymous SNV D53D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.57 288257 chr20 60885536 60885536 G A LAMA5 Synonymous SNV C3513C 0 0.003 0 0 0 1 0 0 0 0 0 0 7.974 288258 chr2 100623208 100623208 C T rs371774868 AFF3 Synonymous SNV S278S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 288259 chr7 4245596 4245596 G C SDK1 Nonsynonymous SNV E215D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 288260 chr7 4260967 4260967 C T rs150519551 SDK1 Nonsynonymous SNV T420M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 288261 chr19 46915241 46915241 C A rs767950083 CCDC8 Nonsynonymous SNV R276L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.746 288262 chr7 45015086 45015086 C T rs146466466 MYO1G Synonymous SNV E187E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.49 288263 chr10 102683812 102683814 ATG - SLF2 M352del 0 0.003 0 0 0 1 0 0 0 0 0 0 288264 chr10 103343314 103343314 G A rs146197224 POLL Nonsynonymous SNV S64F 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.5 288265 chr10 103587972 103587972 T G KCNIP2 Nonsynonymous SNV D135A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 288266 chr1 145021117 145021117 - T PDE4DIP Frameshift insertion T24Nfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 288267 chr2 121747103 121747103 C T rs369264013 GLI2 Synonymous SNV L1205L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.665 288268 chr20 9561192 9561192 G A rs375668103 PAK5 Nonsynonymous SNV A197V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 288269 chr10 106074650 106074650 T C rs140260199 ITPRIP Nonsynonymous SNV Y387C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.88 288270 chr10 106899161 106899161 A G rs562609185 SORCS3 Nonsynonymous SNV T407A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 288271 chr21 22696710 22696710 A G NCAM2 Synonymous SNV P67P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.422 288272 chr7 64439544 64439544 A G rs367730940 ERV3-1-ZNF117, ZNF117 Synonymous SNV N135N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 288273 chr10 114203300 114203300 C A ZDHHC6 Nonsynonymous SNV R107L 0 0.003 0 0 0 1 0 0 0 0 0 0 35 288274 chr10 115388741 115388741 C T rs200149618 NRAP Nonsynonymous SNV G659R 0 0.003 0 0 0 1 0 0 0 0 0 0 23 288275 chr7 73097602 73097602 T C rs61732167 DNAJC30 Nonsynonymous SNV Y51C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 288276 chr4 151177172 151177172 A C rs142698829 DCLK2 Nonsynonymous SNV N692H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 288277 chr21 33044290 33044290 G A SCAF4 Nonsynonymous SNV P941S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.847 288278 chr4 153691281 153691281 T G rs906307626 TIGD4 Synonymous SNV A292A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.069 288279 chr21 35890523 35890523 G T RCAN1 Nonsynonymous SNV D125E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 288280 chr1 155449975 155449975 G C ASH1L Nonsynonymous SNV Q896E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 288281 chr1 155630486 155630486 T C rs772826508 YY1AP1 Synonymous SNV R394R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.009 288282 chr21 39087226 39087226 G A rs750928265 KCNJ6 Synonymous SNV T78T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.907 288283 chr1 156213907 156213907 C T rs541423747 PAQR6 Synonymous SNV L127L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.12 288284 chr1 156341032 156341032 C T rs777165584 RHBG Synonymous SNV N28N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.469 288285 chr7 92732403 92732403 T C rs146087534 SAMD9 Nonsynonymous SNV N1003S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 288286 chr19 52376418 52376418 A T rs199635445 ZNF577 Stop gain C275X 0.001 0 0 0 1 0 0 0 0 0 0 0 32 288287 chr2 166211041 166211041 G A rs765278777 SCN2A Nonsynonymous SNV V1087M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.66 288288 chr1 156642966 156642966 G A rs189674681 NES Synonymous SNV T338T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.28 288289 chr7 99747131 99747131 C A rs200634492 LAMTOR4 Nonsynonymous SNV L5M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 288290 chr8 100999793 100999793 C T rs757215620 RGS22 Nonsynonymous SNV A844T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 288291 chr4 183664386 183664386 G T TENM3 Nonsynonymous SNV S1148I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 288292 chr4 184931259 184931259 T G rs201687147 STOX2 Nonsynonymous SNV M423R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 288293 chr21 45821741 45821741 C A rs755848487 TRPM2 Stop gain Y833X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 288294 chr21 45919751 45919751 G C rs782299333 TSPEAR Nonsynonymous SNV A642G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.4 288295 chr8 113317069 113317069 T C CSMD3 Nonsynonymous SNV E2516G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 288296 chr11 420944 420944 C G ANO9 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 288297 chr19 55831928 55831928 G C rs938873136 TMEM150B Nonsynonymous SNV I42M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 288298 chr22 20103806 20103806 G A rs61737473 RANBP1, TRMT2A Synonymous SNV A33A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.03 288299 chr5 13901593 13901593 T C DNAH5 Nonsynonymous SNV Y607C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 288300 chr19 56321559 56321559 G T NLRP11 Synonymous SNV T40T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.199 288301 chr2 189873766 189873766 C A rs184402915 COL3A1 Synonymous SNV G1214G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.23 288302 chr8 144654313 144654313 C T rs181369335 MROH6 Nonsynonymous SNV A113T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.1 288303 chr22 24720216 24720216 A G rs139099983 SPECC1L Nonsynonymous SNV E656G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 288304 chr8 144993489 144993489 G A PLEC Synonymous SNV R3486R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.305 288305 chr5 43609441 43609441 A G rs150910464 NNT Synonymous SNV V48V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.771 288306 chr19 58059186 58059186 C T rs371770030 ZNF550 Synonymous SNV P142P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 288307 chr5 52405546 52405546 C T rs572637154 MOCS2 Nonsynonymous SNV C5Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 12.96 288308 chr8 145163744 145163744 C T rs927084423 WDR97 Nonsynonymous SNV P259S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 288309 chr9 140328747 140328747 G C rs199687966 NOXA1 Nonsynonymous SNV A407P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 288310 chr8 145170288 145170288 C T WDR97 Synonymous SNV R1374R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 288311 chr5 54922432 54922432 A C rs764552052 SLC38A9 Nonsynonymous SNV Y463D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 288312 chr5 56180630 56180630 A G rs752166816 MAP3K1 Nonsynonymous SNV N1320S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 288313 chr2 211459281 211459281 C A rs138254425 CPS1 Nonsynonymous SNV T405N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.2 288314 chr5 65088423 65088423 G A rs373507441 NLN Nonsynonymous SNV D490N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 288315 chr5 65288659 65288659 C T ERBIN Nonsynonymous SNV P38L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 288316 chr22 32234760 32234760 T C rs777644077 DEPDC5 Nonsynonymous SNV V737A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 288317 chr1 19415436 19415436 A G UBR4 Synonymous SNV H4749H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.771 288318 chr2 217124188 217124188 G A rs144064965 MARCHF4 Synonymous SNV G360G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.937 288319 chr8 2057275 2057275 G T rs139827456 MYOM2 Nonsynonymous SNV A1045S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.06 288320 chr2 220074986 220074986 C T rs753788507 ABCB6 Nonsynonymous SNV V750I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288321 chr19 8389675 8389675 G A rs750030061 KANK3 Stop gain R708X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 288322 chr2 220432067 220432067 G C rs751111284 OBSL1 Nonsynonymous SNV R589G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 288323 chr11 4825022 4825022 T C rs73403015 OR52R1 Nonsynonymous SNV I197V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 288324 chr11 4881020 4881020 C T rs61710756 OR51H1 Nonsynonymous SNV G259S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 288325 chr11 4881705 4881705 G - rs111292219 OR51H1 L33Wfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 288326 chr8 36673152 36673152 G C rs778598838 KCNU1 Synonymous SNV L314L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.627 288327 chr22 50671811 50671811 G A rs529665239 TUBGCP6 Synonymous SNV C350C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.987 288328 chr22 50678635 50678635 G C rs755288771 TUBGCP6 Synonymous SNV G301G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.07 288329 chr22 50885598 50885598 C G rs959959068 SBF1 Synonymous SNV R1860R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 288330 chr8 71078835 71078835 G C rs377738808 NCOA2 Synonymous SNV V78V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.62 288331 chr5 114956255 114956255 T C rs147546335 TMED7, TMED7-TICAM2 Synonymous SNV T105T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.54 288332 chr19 9525002 9525002 G A rs778482422 ZNF266 Nonsynonymous SNV A200V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.736 288333 chr5 127681100 127681100 C A rs28763945 FBN2 Nonsynonymous SNV A1056S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 13.96 288334 chr5 127727846 127727846 T C rs764980413 FBN2 Nonsynonymous SNV I490V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.31 288335 chr2 10186490 10186490 C T KLF11 Nonsynonymous SNV H69Y 0 0.003 0 0 0 1 0 0 0 0 0 0 19.97 288336 chr8 91063933 91063933 T G DECR1 Nonsynonymous SNV V305G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 288337 chr5 133912461 133912461 G C JADE2 Nonsynonymous SNV R535P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.779 288338 chr11 7324428 7324428 A G rs750631573 SYT9 Nonsynonymous SNV M102V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.703 288339 chr3 8672567 8672567 - C rs538450571 SSUH2 Frameshift insertion D150Gfs*113 0.001 0 0 0 1 0 0 0 0 0 0 0 288340 chr1 113253886 113253896 ACCAGCCGGTC - rs540188332 PPM1J T347_W349del 0.001 0 0 0 1 0 0 0 0 0 0 0 288341 chr9 109687205 109687205 T A ZNF462 Nonsynonymous SNV F338I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 288342 chr3 12475578 12475578 C T rs149367249 PPARG Synonymous SNV I456I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.94 288343 chr2 121744139 121744139 G A rs146944207 GLI2 Nonsynonymous SNV G606R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 288344 chr11 11941770 11941770 G A rs542320696 USP47 Nonsynonymous SNV R172H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 288345 chr11 12313838 12313838 G A rs199655140 MICALCL Synonymous SNV P41P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.32 288346 chr9 116241775 116241775 G C rs145020127 RGS3 Nonsynonymous SNV Q28H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 288347 chr9 116346568 116346568 A G rs200934322 RGS3 Nonsynonymous SNV D280G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 288348 chr2 141128839 141128839 G A rs765082426 LRP1B Nonsynonymous SNV S3595L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27 288349 chr3 24004016 24004016 G A rs138475457 NR1D2 Nonsynonymous SNV D281N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 288350 chr11 17809762 17809762 T C rs149628273 SERGEF Nonsynonymous SNV Y416C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.128 288351 chr11 18955987 18955987 G C rs766378365 MRGPRX1 Synonymous SNV A115A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.349 288352 chr11 19955519 19955519 C T rs140693265 NAV2 Nonsynonymous SNV P513S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.957 288353 chr2 152510604 152510604 T C rs199700878 NEB Nonsynonymous SNV K2273E 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 288354 chr10 103827047 103827047 C T rs200618225 HPS6 Nonsynonymous SNV R606C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 288355 chr5 154179594 154179594 C T rs373380138 LARP1 Nonsynonymous SNV R298W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 288356 chr3 42956145 42956145 T C ZNF662 Nonsynonymous SNV C220R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 288357 chr5 156531694 156531694 G C rs150536405 HAVCR2 Nonsynonymous SNV T154S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.239 288358 chr9 133577664 133577664 A C rs147223725 EXOSC2 Nonsynonymous SNV E187D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 0.11 288359 chr2 171191945 171191945 A G rs34509373 MYO3B Nonsynonymous SNV N267S 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 19.1 288360 chr3 48685714 48685714 C T rs1026169257 CELSR3 Nonsynonymous SNV V2320M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288361 chr3 49059896 49059896 C T rs1055207243 NDUFAF3 Synonymous SNV S65S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.89 288362 chr2 176965252 176965252 C T HOXD12 Synonymous SNV L193L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.33 288363 chr2 179498694 179498694 C T TTN Nonsynonymous SNV D5113N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.8 288364 chr1 27876029 27876029 C T rs147692518 AHDC1 Synonymous SNV K866K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 288365 chr9 140093509 140093509 A T rs140980246 TPRN Nonsynonymous SNV I552N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 288366 chr1 15988205 15988205 A G rs199740469 RSC1A1 Synonymous SNV V614V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.095 288367 chr3 56680756 56680756 G A TASOR Nonsynonymous SNV S274L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.86 288368 chr6 11566059 11566059 G A rs770118125 TMEM170B Synonymous SNV A86A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.27 288369 chr3 67570954 67570954 G A rs61756471 SUCLG2 Synonymous SNV G174G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.513 288370 chr3 87313507 87313507 T C rs143373007 POU1F1 Nonsynonymous SNV M124V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.07 288371 chr2 198949477 198949477 T C rs763716985 PLCL1 Synonymous SNV S412S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 288372 chr9 33923284 33923284 G A rs140194238 UBAP2 Synonymous SNV D207D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.328 288373 chr2 202356776 202356776 T C C2CD6 Nonsynonymous SNV I1430V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 288374 chr2 203772630 203772630 C T rs79790651 WDR12 Nonsynonymous SNV D32N 0 0.003 0 0 0 1 0 0 0 0 0 0 24 288375 chr2 204037533 204037533 A G rs140473940 NBEAL1 Nonsynonymous SNV I2065V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.57 288376 chr2 210860104 210860104 C A rs189916631 UNC80 Nonsynonymous SNV Q3164K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.33 288377 chr2 215645582 215645582 C T rs201261729 BARD1 Nonsynonymous SNV S320N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 7.13 288378 chr2 215819926 215819926 C T rs200758693 ABCA12 Synonymous SNV P1813P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.097 288379 chr9 8518145 8518145 C G PTPRD Nonsynonymous SNV A406P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 288380 chr2 216809658 216809658 G C MREG Synonymous SNV P137P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.24 288381 chr2 217012815 217012815 C T rs771976590 XRCC5 Nonsynonymous SNV H496Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 288382 chr2 219144065 219144065 G C rs200268097 TMBIM1 Nonsynonymous SNV I105M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 288383 chr2 219886955 219886955 G A CFAP65 Nonsynonymous SNV P973S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 288384 chr11 60689585 60689585 G A rs372454248 TMEM109 Nonsynonymous SNV R227H 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 288385 chrM 7473 7473 A T MIR12136 0 0 0.007 0 0 0 0 2 0 0 1 0 288386 chr2 220362789 220362789 G C rs765542465 SPEGNB Nonsynonymous SNV G199R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 288387 chrX 109695615 109695615 G A rs140128222 RTL9 Synonymous SNV T590T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.431 288388 chr11 62490297 62490297 G A rs377641267 HNRNPUL2 Nonsynonymous SNV R324C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 288389 chr11 62886376 62886376 G A SLC22A24 Stop gain Q280X 0 0.003 0 0 0 1 0 0 0 0 0 0 0.972 288390 chr1 67787286 67787286 T C rs2307147 IL12RB2 Synonymous SNV D26D 0.002 0 0 0 2 0 0 0 0 0 0 0 1.497 288391 chr3 126707499 126707499 G A rs780440301 PLXNA1 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 288392 chr3 126708321 126708321 C T rs146511348 PLXNA1 Synonymous SNV Y295Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.434 288393 chr3 127806568 127806568 G C RUVBL1 Nonsynonymous SNV T367S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.47 288394 chr11 64127759 64127759 C T RPS6KA4 Synonymous SNV T84T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 288395 chr11 64820807 64820807 G A rs201998635 NAALADL1 Nonsynonymous SNV R361C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 288396 chr3 130447386 130447386 A G PIK3R4 Synonymous SNV V576V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.922 288397 chrX 149931195 149931195 C T rs782289648 MTMR1 Nonsynonymous SNV S570L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 288398 chr1 85656426 85656426 T A rs763791987 SYDE2 Nonsynonymous SNV E252V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 288399 chrX 152018894 152018894 A G rs374881555 NSDHL Nonsynonymous SNV N65S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.138 288400 chrX 15349774 15349774 A C PIGA Synonymous SNV P93P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 288401 chrX 153692374 153692374 G A rs150546014 PLXNA3 Nonsynonymous SNV R543Q 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 18.01 288402 chrX 153941617 153941617 C A GAB3 Nonsynonymous SNV S154I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 288403 chr3 141206034 141206034 T C RASA2 Synonymous SNV L37L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.382 288404 chr2 235949984 235949984 G A rs369629149 SH3BP4 Nonsynonymous SNV D191N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 288405 chr11 66061876 66061876 C T TMEM151A Synonymous SNV H53H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.51 288406 chr11 66103485 66103485 C T rs866239095 RIN1 Synonymous SNV A49A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.557 288407 chr1 208391205 208391205 G A rs768537663 PLXNA2 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.155 288408 chr1 20975570 20975570 A G PINK1 Nonsynonymous SNV E445G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 288409 chr3 152058626 152058626 G A rs190147392 TMEM14EP 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 288410 chrX 36385101 36385101 T C rs782516337 CFAP47 Nonsynonymous SNV I3015T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 288411 chr1 211749595 211749595 A G rs769453092 SLC30A1 Nonsynonymous SNV V220A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.391 288412 chr11 72006572 72006572 A G rs764050395 CLPB Synonymous SNV L455L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.86 288413 chrX 54200563 54200563 C T rs953382366 FAM120C Synonymous SNV X239X 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 288414 chr1 99203796 99203796 C G SNX7 Nonsynonymous SNV P322A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.945 288415 chr3 172163205 172163205 G A rs148371213 GHSR Stop gain R283X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 39 288416 chrX 72433664 72433666 TCC - rs369450592 NAP1L2 E221del 0 0 0.003 0 0 0 0 1 0 0 0 0 288417 chrX 73041568 73041568 C T rs758874284 TSIX, XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 6.126 288418 chrX 77254065 77254065 C T rs782702847 ATP7A Nonsynonymous SNV T476I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.945 288419 chr20 18287024 18287024 G A rs760186512 ZNF133 Synonymous SNV P75P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.616 288420 chr2 26703725 26703725 C G rs144907002 OTOF Nonsynonymous SNV V578L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.91 288421 chr10 100219406 100219406 T C rs371089049 HPSE2 Synonymous SNV T456T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.68 288422 chr2 27465765 27465765 C T rs147932160 CAD Nonsynonymous SNV A2072V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 288423 chr11 92715331 92715331 C A MTNR1B Nonsynonymous SNV N314K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 288424 chr3 186917504 186917504 G T rs750760011 RTP1 Synonymous SNV L146L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 288425 chr20 24944642 24944642 G A rs564662290 APMAP Nonsynonymous SNV T353M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 288426 chr20 25187723 25187723 C T rs34363734 ENTPD6 Synonymous SNV H5H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.48 288427 chr6 129786384 129786384 A G rs147185142 LAMA2 Nonsynonymous SNV H2417R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.8 288428 chr2 37235808 37235808 C G HEATR5B Nonsynonymous SNV D1490H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 288429 chr3 195595512 195595512 G A rs150245181 TNK2 Nonsynonymous SNV R570W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 288430 chr1 23240250 23240250 A T rs76826147 EPHB2 Stop gain K1019X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 risk factor 0.066 288431 chr3 196733469 196733469 C T rs200627482 MELTF Nonsynonymous SNV R630Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 288432 chr10 121196346 121196346 G A rs769347901 GRK5 Nonsynonymous SNV V308I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 288433 chr6 152163827 152163827 G A rs373558014 ESR1 Nonsynonymous SNV R183H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 288434 chr2 54135555 54135555 T C PSME4 Nonsynonymous SNV I896V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 288435 chr4 437919 437919 C G rs368508821 ZNF721 Nonsynonymous SNV E113Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 288436 chr20 37263382 37263382 C T rs772571545 ARHGAP40 Synonymous SNV L300L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 288437 chr11 111952734 111952734 T C NKAPD1 Nonsynonymous SNV Y117H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 288438 chr4 952131 952131 C G rs368509864 TMEM175 Synonymous SNV A372A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.575 288439 chr2 61335467 61335479 AACTGGACTCTAC - KIAA1841 Stop gain W398* 0 0.003 0 0 0 1 0 0 0 0 0 0 288440 chr2 69043489 69043489 C A ARHGAP25 Synonymous SNV I285I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.31 288441 chr4 2824699 2824699 C T rs749816726 SH3BP2 Synonymous SNV V58V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 288442 chr11 119996463 119996463 G A rs766117885 TRIM29 Synonymous SNV H162H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 288443 chr2 74086478 74086478 C T STAMBP Nonsynonymous SNV S233F 0 0.003 0 0 0 1 0 0 0 0 0 0 34 288444 chr10 15210557 15210557 G C rs544927506 NMT2 Nonsynonymous SNV Q19E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 288445 chr2 86310248 86310248 G A POLR1A Synonymous SNV P258P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.72 288446 chr2 95943256 95943256 A T rs142565142 PROM2 Nonsynonymous SNV D306V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.52 288447 chr10 33214987 33214987 G T ITGB1 Nonsynonymous SNV P200T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 288448 chr10 34671634 34671634 C T rs747043266 PARD3 Synonymous SNV P367P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.16 288449 chr4 47560993 47560993 C T rs749255964 ATP10D Nonsynonymous SNV H830Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 288450 chr12 2224581 2224581 C A rs745759667 CACNA1C Synonymous SNV R81R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 20.6 288451 chr12 2930012 2930012 C T rs140856468 ITFG2 Synonymous SNV A223A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.79 288452 chr1 27278321 27278321 G A rs199575697 KDF1 Nonsynonymous SNV A184V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 288453 chr16 22019730 22019730 - CACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGAC rs776782299 MOSMO 0.002 0 0 0 2 0 0 0 0 0 0 0 288454 chr10 5791560 5791560 C T rs564683300 TASOR2 Nonsynonymous SNV T1978I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.073 288455 chr10 5937051 5937051 T C rs571359384 FBH1 Nonsynonymous SNV C19R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.95 288456 chr12 9016434 9016434 G A rs766181132 A2ML1 Nonsynonymous SNV A692T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 288457 chr10 6104082 6104082 G C IL2RA Synonymous SNV L11L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.191 288458 chr10 61115697 61115697 G A rs150460810 FAM13C Synonymous SNV D23D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 288459 chr10 6498720 6498720 C T rs55867019 PRKCQ Synonymous SNV A396A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.89 288460 chr10 71154787 71154787 C T rs767066673 HK1 Synonymous SNV L735L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.35 288461 chr4 83350625 83350625 C T HNRNPDL Synonymous SNV A73A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 288462 chr10 72292400 72292400 C T rs146140803 PALD1 Synonymous SNV S219S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 288463 chr10 72301246 72301246 C A rs565946037 PALD1 Nonsynonymous SNV L693I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.3 288464 chr21 45503039 45503039 C T rs373085618 TRAPPC10 Synonymous SNV N231N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 288465 chr3 128181439 128181439 G A rs200292314 DNAJB8 Nonsynonymous SNV S217L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 288466 chr4 85599326 85599326 G A WDFY3 Synonymous SNV I3418I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 288467 chr4 87672024 87672024 G T rs765530843 PTPN13 Nonsynonymous SNV V1018L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 288468 chr10 73466691 73466691 G A rs376773015 CDH23 Synonymous SNV P997P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 288469 chr10 73569761 73569761 C T rs11000010 CDH23 Synonymous SNV R729R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.71 288470 chr21 46233882 46233882 G A rs375002240 SUMO3 Synonymous SNV H53H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.348 288471 chr10 7608311 7608311 G T rs528005531 ITIH5 Nonsynonymous SNV Q523K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 288472 chr4 90856286 90856286 G A rs200526088 MMRN1 Synonymous SNV Q485Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 288473 chr21 47549369 47549369 C T rs746401700 COL6A2 Synonymous SNV I907I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 288474 chr12 15068511 15068511 T C rs749178883 ERP27 Nonsynonymous SNV D128G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 288475 chr22 17445710 17445710 C T rs5992599 GAB4 Synonymous SNV T321T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.14 288476 chr22 17472785 17472785 G A rs116325774 GAB4 Synonymous SNV G152G 0.003 0 0 0 3 0 0 0 0 0 0 0 10.34 288477 chr12 15668458 15668458 A G rs141151359 PTPRO Synonymous SNV E497E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.091 288478 chr12 21033823 21033823 C T rs61736817 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV L428F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.444 288479 chr1 42630314 42630314 C T rs750432131 GUCA2A Nonsynonymous SNV V24M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 288480 chr22 18300932 18300932 G C rs373213687 MICAL3 Nonsynonymous SNV R1499G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.383 288481 chr10 93605527 93605527 C G rs369439385 TNKS2 Nonsynonymous SNV L730V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 288482 chr10 97373555 97373555 C T rs770815414 ALDH18A1 Nonsynonymous SNV D411N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 288483 chr10 97446883 97446883 C T rs758733887 TCTN3 Nonsynonymous SNV R178H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 288484 chr4 120213962 120213962 A T rs778492898 USP53 Nonsynonymous SNV S889C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 288485 chr10 99200934 99200934 G T rs151186254 EXOSC1 Nonsynonymous SNV T77N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 288486 chr12 40114591 40114591 A T C12orf40 Synonymous SNV P499P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.697 288487 chr10 99667888 99667888 G A rs562568395 CRTAC1 Synonymous SNV S244S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 288488 chr12 45810579 45810579 A G rs747612657 ANO6 Synonymous SNV A703A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.411 288489 chr3 154022644 154022644 T A rs184997424 DHX36 Synonymous SNV V362V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 288490 chr12 49088034 49088034 G A CCNT1 Synonymous SNV S321S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.702 288491 chr4 152487423 152487423 G A rs116521641 FAM160A1 Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.875 288492 chr4 153802224 153802224 A G rs73865263 ARFIP1 Nonsynonymous SNV N142S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 288493 chr4 153802243 153802243 A G rs73865265 ARFIP1 Synonymous SNV Q148Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.537 288494 chr12 50291355 50291355 G A rs147548351 FAIM2 Synonymous SNV I109I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 288495 chr22 37462905 37462905 C T rs562834089 TMPRSS6 Synonymous SNV L737L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.66 288496 chr11 10828419 10828419 C T rs200959719 EIF4G2 Nonsynonymous SNV G19R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 288497 chr11 108383408 108383408 G C rs150600620 EXPH5 Nonsynonymous SNV N754K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.546 288498 chr3 184910538 184910538 C T rs757961359 EHHADH Nonsynonymous SNV A454T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.53 288499 chr22 44395283 44395283 C G rs140454524 PARVB Nonsynonymous SNV N21K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 288500 chr3 189838481 189838498 GCAGCAGCAGCAGCGGCG - P3H2 P8_L13del 0 0.003 0 0 0 1 0 0 0 0 0 0 288501 chr11 116744648 116744648 A G rs55767986 SIK3 Synonymous SNV L470L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.287 288502 chr12 54448092 54448092 C T rs780323507 HOXC4 Nonsynonymous SNV A129V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 288503 chr12 55523795 55523795 C T rs118155337 OR9K2 Synonymous SNV N81N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.398 288504 chr11 118869294 118869294 - T CCDC84 Frameshift insertion L93Sfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 288505 chr4 188924389 188924389 A G rs757111204 ZFP42 Nonsynonymous SNV Y143C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.724 288506 chr12 56330263 56330263 G A rs745753870 DGKA Synonymous SNV L30L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.11 288507 chr1 7797443 7797443 G A rs151130353 CAMTA1 Synonymous SNV V200V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.762 288508 chr11 120198216 120198216 T A rs753492071 TLCD5 Synonymous SNV S44S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.637 288509 chr1 7887646 7887646 C T rs774936390 PER3 Nonsynonymous SNV A886V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 288510 chr2 10095103 10095103 C G rs577960706 GRHL1 Nonsynonymous SNV T27S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.5 288511 chr11 123814386 123814386 G A rs143608253 OR6T1 Nonsynonymous SNV R54C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.37 288512 chr11 85428558 85428558 T C SYTL2 Nonsynonymous SNV Q496R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 288513 chr2 10186539 10186539 C G rs576350323 KLF11 Nonsynonymous SNV S85W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 288514 chr12 58001002 58001002 G A rs767484065 DTX3 Nonsynonymous SNV R122H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 288515 chr11 124096286 124096286 A G rs763543374 OR8G2P Nonsynonymous SNV M297V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.273 288516 chr5 13776708 13776708 G A rs563907105 DNAH5 Synonymous SNV H3071H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.227 288517 chr11 1253737 1253737 G A rs748729956 MUC5B Nonsynonymous SNV R634H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.949 288518 chr12 70049399 70049399 G C BEST3 Nonsynonymous SNV A219G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 288519 chr12 70990052 70990052 G A rs756195195 PTPRB Synonymous SNV S127S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.7 288520 chr3 38751042 38751042 A G rs140825889 SCN10A Nonsynonymous SNV I1305T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.3 288521 chr11 13375861 13375861 A T rs75830309 ARNTL Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.948 288522 chr11 14665916 14665916 G A rs200051655 PDE3B Nonsynonymous SNV E99K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.61 288523 chr1 93160933 93160933 C A rs770533580 EVI5 Synonymous SNV L325L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 288524 chr1 935162 935162 G C rs765395114 HES4 Synonymous SNV S64S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.528 288525 chr5 52404385 52404385 T C MOCS2 Nonsynonymous SNV Q36R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 288526 chr11 18729446 18729446 A C rs781312035 IGSF22 Nonsynonymous SNV I1062S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 288527 chr5 54405933 54405933 C T rs201968763 GZMA Nonsynonymous SNV R238C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 288528 chr12 104118766 104118766 G A STAB2 Nonsynonymous SNV C1566Y 0 0.003 0 0 0 1 0 0 0 0 0 0 32 288529 chr11 2167572 2167572 G A rs373191717 IGF2-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.341 288530 chr3 49059841 49059842 TC - NDUFAF3 L49Afs*110 0 0.003 0 0 0 1 0 0 0 0 0 0 288531 chr5 68572412 68572412 C T CDK7 Nonsynonymous SNV P246S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 288532 chr3 52470028 52470028 C T rs766435587 SEMA3G Nonsynonymous SNV R647H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 288533 chr2 1657424 1657424 A G rs753795742 PXDN Synonymous SNV L694L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.793 288534 chr2 166172034 166172034 G C rs940572077 SCN2A Synonymous SNV G479G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.631 288535 chr2 166626918 166626918 A C rs143136193 GALNT3 Nonsynonymous SNV L98W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 288536 chr7 150104966 150104966 G C rs976950746 LOC728743 0 0 0 1 0 0 0.003 0 0 0 0 0 11 288537 chr11 3121432 3121432 C T rs142478721 OSBPL5 Nonsynonymous SNV R458Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 288538 chr7 151135279 151135279 C T rs781449100 CRYGN Nonsynonymous SNV G25R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 288539 chr5 75978994 75978994 G C IQGAP2 Nonsynonymous SNV E735Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 288540 chr12 118458751 118458751 G C RFC5 Nonsynonymous SNV G103A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.25 288541 chr11 40136163 40136163 G A rs142620688 LRRC4C Synonymous SNV H560H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.246 288542 chr11 44072914 44072914 C A rs781348828 ACCSL Nonsynonymous SNV T222N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 288543 chr3 9094870 9094870 C T rs185541928 SRGAP3 Synonymous SNV Q388Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 288544 chr12 123340825 123340825 G A rs778578403 HIP1R Synonymous SNV A445A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.06 288545 chr20 3654713 3654713 G A ADAM33 Stop gain Q246X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 288546 chr3 9957035 9957035 G A IL17RE Synonymous SNV L400L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.666 288547 chr11 48347004 48347004 G T rs758744609 OR4C3 Nonsynonymous SNV G144V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 288548 chr5 111540088 111540088 G A EPB41L4A Stop gain Q454X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 288549 chr12 133240697 133240697 C T rs374200895 POLE Nonsynonymous SNV V867I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.79 288550 chr4 103970115 103970115 C T rs189868539 SLC9B2 Synonymous SNV A159A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.84 288551 chr5 121488443 121488443 G A rs201335566 ZNF474 Nonsynonymous SNV R253Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.57 288552 chr4 108911135 108911135 C T rs374248298 HADH Nonsynonymous SNV S16F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.4 288553 chr2 196642688 196642688 G A DNAH7 Nonsynonymous SNV R3634W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 288554 chr4 113545029 113545029 T C ZGRF1 Nonsynonymous SNV I36V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 288555 chr20 48260105 48260105 G A B4GALT5 Synonymous SNV L149L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 288556 chr11 5221248 5221248 A T OR51V1 Nonsynonymous SNV I228N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 288557 chr13 28537450 28537452 CTT - rs553066746 CDX2 K248del 0 0.003 0 0 0 1 0 0 0 0 0 0 288558 chr13 29599459 29599459 G A rs200598538 MTUS2 Synonymous SNV Q208Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.288 288559 chr13 29855977 29855977 G A rs183125172 MTUS2 Synonymous SNV A927A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 288560 chr8 26614066 26614066 T C ADRA1A Nonsynonymous SNV T372A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.09 288561 chr13 37596350 37596350 T C rs773256451 SUPT20H Nonsynonymous SNV T566A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.03 288562 chr13 39422767 39422767 C T rs116383837 FREM2 Synonymous SNV P2113P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.23 288563 chr4 13601019 13601019 G A rs201306108 BOD1L1 Nonsynonymous SNV P2502L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.209 288564 chr20 6060152 6060152 G A rs768944793 FERMT1 Synonymous SNV T597T 0.002 0.003 0 2 2 1 0.005 0 0 0 0 0 Benign 7.849 288565 chr5 140625645 140625645 G A PCDHB15 Nonsynonymous SNV V167I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 288566 chr4 141386121 141386121 T A rs539639880 MGAT4D Synonymous SNV S205S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.78 288567 chr11 55681276 55681276 C T rs562303965 OR5W2 Synonymous SNV R261R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 288568 chr11 55735370 55735370 G A rs777436094 OR10AG1 Synonymous SNV V190V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.563 288569 chr11 557454 557454 C T rs746903237 LMNTD2 Nonsynonymous SNV V220I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 288570 chr11 55747443 55747443 G A rs747278676 OR7E5P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.488 288571 chr8 73142627 73142628 CT - LOC392232 0 0 0 1 0 0 0.003 0 0 0 0 0 288572 chr8 95161063 95161063 A C CDH17 Nonsynonymous SNV I612M 0 0 0 1 0 0 0.003 0 0 0 0 0 24 288573 chr5 149826516 149826516 A C rs762926191 RPS14 Nonsynonymous SNV C54G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 288574 chr5 150843183 150843183 G A rs555025184 SLC36A1 Nonsynonymous SNV G24S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 288575 chr5 150897290 150897290 C T rs139138684 FAT2 Nonsynonymous SNV R3785Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.3 288576 chr11 57569611 57569611 G T rs780597185 CTNND1 Nonsynonymous SNV A354S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 288577 chr11 57996159 57996159 C T rs747579093 OR10Q1 Nonsynonymous SNV M63I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 288578 chr4 185578337 185578337 C T rs145651098 PRIMPOL Stop gain R15X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 288579 chr5 154278135 154278135 C T rs148426811 GEMIN5 Synonymous SNV T1069T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 288580 chr13 103514786 103514786 T C rs146853061 BIVM-ERCC5, ERCC5 Synonymous SNV D429D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.015 288581 chr11 59812212 59812212 C A rs558098718 OOSP2 Nonsynonymous SNV D104E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 288582 chr11 608985 608985 C T rs757220022 PHRF1 Nonsynonymous SNV R1177W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 288583 chr11 62284776 62284776 C T rs140729388 AHNAK Nonsynonymous SNV V5705I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.743 288584 chr8 142154307 142154307 C T rs750103828 DENND3 Synonymous SNV F228F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.88 288585 chr11 62601070 62601070 - C rs563984429 LOC105369332 0 0 0.003 0 0 0 0 1 0 0 0 0 288586 chr14 21550112 21550112 G A rs775349138 ARHGEF40 Nonsynonymous SNV G315S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.73 288587 chr14 21550113 21550113 G A rs760522704 ARHGEF40 Nonsynonymous SNV G315D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 288588 chr11 6341681 6341681 C T CAVIN3 Nonsynonymous SNV G9E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 288589 chr5 179980415 179980415 G A rs774500626 CNOT6 Nonsynonymous SNV R15Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 288590 chr11 64037764 64037764 G T rs545545218 BAD Synonymous SNV R142R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 288591 chr5 180276345 180276345 A G rs143071020 ZFP62 Nonsynonymous SNV I717T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.122 288592 chr14 21969072 21969072 G A rs202016326 METTL3 Stop gain R367X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 288593 chr11 6412081 6412081 G A rs368200803 SMPD1 Nonsynonymous SNV G85R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.8 288594 chr11 64428509 64428509 C G rs768732796 NRXN2 Nonsynonymous SNV G603A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 288595 chr21 47334349 47334349 A T rs187563577 PCBP3 Nonsynonymous SNV D201V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.28 288596 chr11 65273148 65273148 G A rs200655069 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 288597 chr6 4716114 4716114 C T rs757533749 CDYL Synonymous SNV N34N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.571 288598 chr6 7247166 7247166 G A rs369549366 RREB1 Nonsynonymous SNV E1440K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 288599 chr14 24035805 24035805 C G rs779832983 AP1G2 Nonsynonymous SNV D99H 0 0.003 0 0 0 1 0 0 0 0 0 0 30 288600 chr4 55127368 55127368 G A PDGFRA Synonymous SNV E52E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 288601 chr11 6567077 6567077 G A rs200820770 DNHD1 Synonymous SNV A1636A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.01 288602 chr11 66206163 66206163 C T rs760585390 MRPL11 Synonymous SNV R21R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.32 288603 chr14 31358730 31358730 A G rs1006683048 LOC100506071 0 0.003 0 0 0 1 0 0 0 0 0 0 3.035 288604 chr14 31358935 31358935 G C rs149072811 COCH Nonsynonymous SNV E531Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 288605 chr11 66626375 66626375 C T rs201895033 LRFN4 Nonsynonymous SNV S387L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 288606 chr11 66999091 66999091 G C rs759129353 KDM2A Nonsynonymous SNV R380P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 288607 chr11 67257767 67257767 C G rs760443460 MIR6752 0 0 0.003 0 0 0 0 1 0 0 0 0 1.078 288608 chr6 17809104 17809104 A G rs140371190 KIF13A Synonymous SNV N686N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.757 288609 chr11 68542863 68542863 G A rs753866589 CPT1A Nonsynonymous SNV A499V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16 288610 chr14 39717264 39717264 G T rs183212485 MIA2 Stop gain E496X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 288611 chr4 71522138 71522138 T G rs766553791 JCHAIN Nonsynonymous SNV K130Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 288612 chr4 79308538 79308538 G A rs367770853 FRAS1 Nonsynonymous SNV V1220M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 288613 chr12 110231775 110231775 A G TRPV4 Nonsynonymous SNV V408A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 288614 chr12 110346462 110346462 G A TCHP Synonymous SNV E257E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 288615 chr4 83827661 83827661 T C rs886445860 THAP9 Nonsynonymous SNV I154T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.065 288616 chr9 35811214 35811214 G A rs770633673 SPAG8 Nonsynonymous SNV R277W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 288617 chr9 35847073 35847073 C T rs768451118 TMEM8B Stop gain R377X 0 0 0 1 0 0 0.003 0 0 0 0 0 4.048 288618 chr11 794790 794790 G A rs146402942 SLC25A22 Synonymous SNV R44R 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.95 288619 chr6 41711097 41711097 G A rs768314678 PGC Nonsynonymous SNV S120L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 288620 chr6 41895253 41895253 T C BYSL Nonsynonymous SNV M137T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 288621 chr14 64692056 64692056 C T rs147848144 SYNE2 Nonsynonymous SNV P368S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 26.7 288622 chr14 64989728 64989728 T G rs142978553 ZBTB1 Nonsynonymous SNV D502E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.102 288623 chr11 85415998 85415998 C T rs114519485 SYTL2 Nonsynonymous SNV R117H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 288624 chr11 85627244 85627244 T A rs750547459 CCDC83 Nonsynonymous SNV Y350N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.932 288625 chr6 43163917 43163917 C T rs770902357 CUL9 Synonymous SNV A833A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 288626 chr22 37420325 37420325 G C MPST Synonymous SNV P23P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.788 288627 chr14 68264467 68264467 G A rs1057518016 ZFYVE26 Stop gain Q752X 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 38 288628 chr14 68274266 68274266 C T ZFYVE26 Synonymous SNV E245E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 288629 chr14 69349742 69349742 C A ACTN1 Nonsynonymous SNV A556S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 288630 chr11 883200 883204 CATAG - rs776663672 CHID1 F270Lfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 288631 chr6 44200721 44200721 C G rs746549866 SLC29A1 Nonsynonymous SNV L439V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 288632 chr6 44243715 44243715 G T rs945946069 TMEM151B Synonymous SNV V384V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.653 288633 chr12 122186313 122186313 C G rs200697173 TMEM120B Nonsynonymous SNV F90L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 288634 chr14 74062202 74062202 C T rs142376300 ACOT4 Synonymous SNV C370C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 288635 chr11 92534418 92534418 C T rs200763217 FAT3 Nonsynonymous SNV R2747W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 288636 chr11 92568223 92568223 C T rs751403167 FAT3 Synonymous SNV D3353D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 288637 chr6 47253696 47253696 G A rs756089168 TNFRSF21 Synonymous SNV S244S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.847 288638 chr12 123950734 123950734 C T rs142113918 SNRNP35 Nonsynonymous SNV P216L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.744 288639 chr6 47649977 47649977 C A ADGRF2 Nonsynonymous SNV A561E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 288640 chr6 47846151 47846151 A G PTCHD4 Nonsynonymous SNV F810S 0.001 0 0 0 1 0 0 0 0 0 0 0 27 288641 chr12 101577955 101577955 G A rs142175729 SLC5A8 Nonsynonymous SNV L337F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 23.8 288642 chr9 100133933 100133933 G T CCDC180 Nonsynonymous SNV E1559D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 288643 chr5 1216788 1216788 G T rs147646554 SLC6A19 Nonsynonymous SNV D335Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25 288644 chr9 101830882 101830882 G A rs150916067 COL15A1 Nonsynonymous SNV G1295R 0 0 0 1 0 0 0.003 0 0 0 0 0 28 288645 chr14 92472649 92472649 T G rs768101560 TRIP11 Nonsynonymous SNV L556F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.763 288646 chr9 107266824 107266824 T C rs7018553 OR13F1 Nonsynonymous SNV F94S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 288647 chr3 12626657 12626657 C G rs763317317 RAF1 Synonymous SNV G430G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 288648 chr9 107457686 107457686 G T rs61733820 OR13D1 Nonsynonymous SNV E328D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 288649 chr3 127339693 127339693 G C MCM2 Nonsynonymous SNV Q806H 0.005 0 0 0 6 0 0 0 0 0 0 0 26.6 288650 chr5 134345062 134345062 A G rs72800379 CATSPER3 Nonsynonymous SNV D273G 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 14.12 288651 chr12 120436430 120436430 G A BICDL1 Nonsynonymous SNV D179N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 288652 chr3 130464035 130464035 G A rs759923898 PIK3R4 Nonsynonymous SNV P10S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 288653 chr6 84871571 84871571 C T rs755871849 CEP162 Nonsynonymous SNV R781H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 288654 chr12 121174905 121174905 C T rs144083614 ACADS Synonymous SNV C109C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 288655 chr5 138658569 138658569 G T rs575644705 MATR3 Synonymous SNV V399V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 288656 chr14 102514186 102514186 C G DYNC1H1 Nonsynonymous SNV Q4347E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 288657 chr12 122620139 122620139 C T rs540485650 MLXIP Nonsynonymous SNV A653V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.325 288658 chr3 13860909 13860909 C G rs1007184780 WNT7A Nonsynonymous SNV E194D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 288659 chr14 105849750 105849750 G A rs368051873 PACS2 Synonymous SNV A560A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.07 288660 chr9 123632055 123632055 G A PHF19 Nonsynonymous SNV P178L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.903 288661 chr6 111913009 111913009 C T rs61756667 TRAF3IP2 Nonsynonymous SNV S94N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.8 288662 chr15 23889699 23889699 C T rs373183462 MAGEL2 Nonsynonymous SNV R1064H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 288663 chr12 133354304 133354304 G C rs771205354 GOLGA3 Nonsynonymous SNV Q1224E 0 0 0.007 0 0 0 0 2 0 0 1 0 23.9 288664 chr5 140736652 140736652 G T rs768829720 PCDHGA4 Nonsynonymous SNV A660S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 288665 chr12 14924008 14924008 C G rs778494828 HIST4H4 Nonsynonymous SNV R4P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 288666 chr6 117130576 117130576 A G GPRC6A Synonymous SNV Y133Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.609 288667 chr3 157823561 157823561 C G rs779401030 SHOX2 Nonsynonymous SNV G85R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 288668 chr12 18891948 18891948 A G rs548812304 CAPZA3 Nonsynonymous SNV N249S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.209 288669 chr6 132190542 132190542 T C ENPP1 Nonsynonymous SNV Y440H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 288670 chr2 1243542 1243542 C T rs375891281 SNTG2 Synonymous SNV S294S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 288671 chr15 40863856 40863856 A G rs1056836104 RPUSD2 Synonymous SNV A159A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.286 288672 chr6 137113036 137113036 C T rs369233899 MAP3K5 Nonsynonymous SNV G87D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 288673 chr6 139569043 139569043 T C rs72988902 TXLNB Nonsynonymous SNV T361A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 288674 chr15 41797692 41797692 C T LTK Synonymous SNV G448G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.88 288675 chr2 138320868 138320868 C T THSD7B Synonymous SNV I1072I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 288676 chr15 42193155 42193155 G A rs202035050 EHD4 Synonymous SNV D438D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.09 288677 chr6 149862097 149862097 C T rs752278322 PPIL4 Nonsynonymous SNV S101N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 288678 chr15 43569058 43569058 A C rs531886999 TGM7 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 288679 chr12 49361757 49361757 C T rs553395822 WNT10B Nonsynonymous SNV R228Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 288680 chr12 49496117 49496117 T C rs202127023 LMBR1L Nonsynonymous SNV H213R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.672 288681 chr6 152804280 152804280 G C rs755709525 SYNE1 Synonymous SNV T437T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 288682 chr15 48062853 48062853 A G rs146886309 SEMA6D Nonsynonymous SNV H636R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.934 288683 chr15 48725102 48725102 C T rs112084407 FBN1 Nonsynonymous SNV V2234M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.35 288684 chr15 50489831 50489831 C G SLC27A2 Nonsynonymous SNV P205A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.703 288685 chr3 20194017 20194017 - T rs765005938 KAT2B X833delinsX 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 288686 chr12 52824355 52824355 C A rs763434871 KRT75 Synonymous SNV R335R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.93 288687 chr9 138710266 138710266 A G CAMSAP1 Nonsynonymous SNV C1386R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.62 288688 chr3 38153825 38153825 C T DLEC1 Synonymous SNV G1216G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 288689 chr12 53189771 53189771 C T rs376108603 KRT3 Nonsynonymous SNV R19H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.05 288690 chr5 176728984 176728984 C T RAB24 Synonymous SNV E163E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.876 288691 chr7 1027128 1027128 C T rs539008687 CYP2W1 Synonymous SNV T368T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.028 288692 chr7 1478585 1478585 G A rs375041028 MICALL2 Synonymous SNV A671A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.496 288693 chr7 1486378 1486378 G A rs770213077 MICALL2 Synonymous SNV D204D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.622 288694 chr7 1487402 1487402 C G MICALL2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 288695 chr12 57627397 57627397 C G SHMT2 Nonsynonymous SNV R349G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 288696 chr12 62932282 62932282 T C rs754165948 MON2 Synonymous SNV N787N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.316 288697 chr2 185798363 185798363 C A rs769049392 ZNF804A Synonymous SNV R97R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 288698 chr15 75132921 75132921 G A rs35249396 ULK3 Synonymous SNV P177P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.703 288699 chr5 37187539 37187539 C T rs748709023 CPLANE1 Nonsynonymous SNV G1353R 0 0.003 0 0 0 1 0 0 0 0 0 0 31 288700 chr7 7421180 7421180 G T rs76149511 COL28A1 Nonsynonymous SNV Q734K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 288701 chr15 75684751 75684751 A G rs767997621 SIN3A Nonsynonymous SNV F895L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 288702 chr3 5021988 5021988 G A BHLHE40 Synonymous SNV E51E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.24 288703 chr10 7763669 7763669 G C rs147906523 ITIH2 Nonsynonymous SNV E266Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.3 288704 chr12 72665750 72665750 G A TRHDE-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.546 288705 chr12 78400847 78400847 G A rs61754793 NAV3 Nonsynonymous SNV S510N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 288706 chr15 81598355 81598355 A G rs34159341 IL16 Nonsynonymous SNV H475R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 288707 chr15 81631083 81631083 A G rs373243884 TMC3 Nonsynonymous SNV I665T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 288708 chr15 83451732 83451732 C T rs201848661 FSD2 Nonsynonymous SNV E261K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 288709 chr7 21781702 21781702 A G rs183682756 DNAH11 Nonsynonymous SNV Q2691R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.9 288710 chr5 54423084 54423084 C G rs755272178 CDC20B 0 0.003 0 0 0 1 0 0 0 0 0 0 24 288711 chr12 863177 863177 C T rs34880640 WNK1 Nonsynonymous SNV A149V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.969 288712 chr12 88381698 88381698 A C C12orf50 Nonsynonymous SNV L249R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 288713 chr12 89745723 89745723 C T rs141049010 DUSP6 Nonsynonymous SNV E32K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 288714 chr12 91445138 91445138 C T rs572659842 KERA Synonymous SNV Q348Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 288715 chr15 88522592 88522592 C T NTRK3 Nonsynonymous SNV G563E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.51 288716 chr10 23729713 23729713 C T OTUD1 Nonsynonymous SNV P443S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 288717 chr13 110839540 110839540 G A rs200252122 COL4A1 Nonsynonymous SNV A558V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.9 288718 chr2 218682922 218682922 C T rs749231305 TNS1 Nonsynonymous SNV R1253Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 288719 chr15 91474581 91474581 T A HDDC3 Nonsynonymous SNV K155M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 288720 chr13 21303319 21303319 C T rs767768414 EEF1AKMT1 Nonsynonymous SNV G182E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 288721 chr7 50023103 50023103 T C ZPBP Nonsynonymous SNV I265V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 288722 chr13 28636025 28636025 G C rs368416225 FLT3 Nonsynonymous SNV P116R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.06 288723 chr13 47224445 47224445 C G rs201744827 LRCH1 Nonsynonymous SNV I139M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 288724 chr16 1270511 1270511 G A rs200017975 CACNA1H Synonymous SNV S2187S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.262 288725 chr6 111498770 111498770 A T rs752699490 SLC16A10 Nonsynonymous SNV I282F 0 0.003 0 0 0 1 0 0 0 0 0 0 2.195 288726 chr6 11191027 11191027 G A rs778807338 NEDD9 Nonsynonymous SNV R210W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 288727 chr7 90001477 90001477 A G rs546383811 GTPBP10 Nonsynonymous SNV N79S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 288728 chr7 90014239 90014239 C T rs757453617 GTPBP10 Nonsynonymous SNV P233L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 288729 chr16 1552107 1552107 C T rs58099766 TELO2 Nonsynonymous SNV A511V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.305 288730 chr16 1576036 1576036 G A IFT140 Nonsynonymous SNV L874F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 288731 chr16 1618306 1618306 C T rs8050974 IFT140 Nonsynonymous SNV S561N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.002 288732 chr16 1634225 1634225 G A rs8060532 IFT140 Nonsynonymous SNV A451V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.128 288733 chr16 1637998 1637998 G A rs8058674 IFT140 Nonsynonymous SNV R280W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.22 288734 chr16 1705955 1705955 C T rs77482527 CRAMP1 Synonymous SNV F399F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.69 288735 chr16 1706480 1706480 C G rs80154657 CRAMP1 Synonymous SNV P574P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.567 288736 chr7 96650225 96650225 G T DLX5 Synonymous SNV R231R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.122 288737 chr16 2012794 2012794 G A rs143242490 RPS2 Synonymous SNV P164P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 288738 chr16 2025056 2025056 G C rs142475109 TBL3 Nonsynonymous SNV V198L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 288739 chr13 96589307 96589307 A C UGGT2 Synonymous SNV G616G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.34 288740 chr16 2026302 2026302 G A rs141498833 TBL3 Nonsynonymous SNV V427I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.426 288741 chr7 98562394 98562394 C T rs143292301 TRRAP Synonymous SNV T2299T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 13.65 288742 chr14 100847878 100847878 G A rs146976933 WDR25 Nonsynonymous SNV R206H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.846 288743 chr16 2231471 2231471 G A rs766598978 CASKIN1 Nonsynonymous SNV S633L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 288744 chr16 2294493 2294493 C T rs376657107 ECI1 Nonsynonymous SNV A119T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.45 288745 chr14 102552636 102552636 G A HSP90AA1 Nonsynonymous SNV A27V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 288746 chr16 2998716 2998716 C T rs200929784 FLYWCH1 Synonymous SNV G713G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 288747 chr10 92663001 92663001 T C rs372530188 RPP30 Synonymous SNV T317T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.031 288748 chr2 242138819 242138819 G A rs149743431 ANO7 Nonsynonymous SNV R133H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 288749 chr14 104001062 104001062 C T rs762500954 TRMT61A Synonymous SNV A258A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.06 288750 chr14 105517528 105517528 G A rs200738332 GPR132 Nonsynonymous SNV R128C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.5 288751 chr6 138200388 138200388 G A rs763705477 TNFAIP3 Synonymous SNV T602T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.023 288752 chr16 9857552 9857552 C G GRIN2A Nonsynonymous SNV K1283N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 288753 chr14 21991589 21991589 G C rs372214185 SALL2 Nonsynonymous SNV P756R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 288754 chr16 15844102 15844102 G A MYH11 Nonsynonymous SNV R651C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 288755 chr10 106166501 106166501 C T rs761602798 CFAP58 Nonsynonymous SNV R736C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 288756 chr16 19729730 19729730 C G rs374031829 IQCK Synonymous SNV L34L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.701 288757 chr2 3691529 3691529 G A rs749339651 COLEC11 Nonsynonymous SNV A139T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.091 288758 chr14 23883022 23883022 G A rs200728597 MYH7 Synonymous SNV I1912I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.54 288759 chr2 39519914 39519914 T A MAP4K3 Nonsynonymous SNV H403L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 288760 chr16 23573958 23573958 A G rs202237406 UBFD1 Nonsynonymous SNV T215A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 288761 chr14 24652035 24652035 T C IPO4 Nonsynonymous SNV D812G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.79 288762 chr7 115897347 115897347 G A rs377244971 TES 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 288763 chr16 28508187 28508187 G A rs562680601 APOBR Nonsynonymous SNV A609T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.152 288764 chr7 117022173 117022173 C T rs566754172 ASZ1 Nonsynonymous SNV E72K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288765 chr4 6279191 6279191 C T rs71524363 WFS1 Synonymous SNV S3S 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 8.959 288766 chr7 120610830 120610830 C A ING3 Nonsynonymous SNV Q333K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 288767 chr7 122635044 122635044 G A rs373868709 TAS2R16 Synonymous SNV C215C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.66 288768 chr14 45542635 45542635 A G rs147901468 TOGARAM1 Synonymous SNV T1678T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 288769 chr14 50088301 50088301 G T rs147502375 MGAT2 Nonsynonymous SNV R105S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 288770 chr14 50459542 50459542 T C rs908352575 LINC01588 0 0 0.007 0 0 0 0 2 0 0 0 0 0.102 288771 chr4 74270864 74270864 T C rs147177161 ALB Synonymous SNV D37D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.847 288772 chr4 7435992 7435992 G A rs746798522 PSAPL1 Synonymous SNV A205A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.88 288773 chr14 52899128 52899128 G A rs146027288 TXNDC16 Nonsynonymous SNV P786L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 288774 chr16 54953033 54953033 T C CRNDE Nonsynonymous SNV K74R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.343 288775 chr2 69098347 69098347 A G BMP10 Synonymous SNV G48G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 288776 chr14 58831645 58831645 G A rs149319468 ARID4A Synonymous SNV E946E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.202 288777 chr16 57714266 57714266 G A rs777986530 ADGRG3 Nonsynonymous SNV A133T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 288778 chr4 83557922 83557922 G C rs148765241 SCD5 Synonymous SNV P208P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.628 288779 chr7 139876642 139876642 A G rs749682487 KDM7A Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.202 288780 chr14 73406997 73406997 G A DCAF4 Nonsynonymous SNV C88Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.45 288781 chr14 73406998 73406998 C A DCAF4 Stop gain C88X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 288782 chr16 69970251 69970251 C T rs934025922 WWP2 Synonymous SNV Y232Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.39 288783 chr2 8967149 8967149 A T KIDINS220 Synonymous SNV L25L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.325 288784 chr7 149502667 149502667 - T SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 288785 chr7 149502668 149502668 C T SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 288786 chr7 149523256 149523256 G A SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 288787 chr14 77493214 77493214 T C rs747682381 IRF2BPL Nonsynonymous SNV T308A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 288788 chr14 77844616 77844616 A G rs773139523 SAMD15 Synonymous SNV Q285Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.091 288789 chr16 71713301 71713301 T C rs139051907 PHLPP2 Nonsynonymous SNV N343S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.547 288790 chr14 81744759 81744759 C T rs142500072 STON2 Nonsynonymous SNV R299H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.09 288791 chr16 75238081 75238081 T C CTRB2 Nonsynonymous SNV Q257R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.18 288792 chr6 42141481 42141481 G A rs544909717 GUCA1A Nonsynonymous SNV G44S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 31 288793 chr7 155251361 155251372 GGCGGCGGAGCC - rs760902565 EN2 G99_G102del 0.001 0 0 0 1 0 0 0 0 0 0 0 288794 chr7 156743191 156743191 G C rs773223957 NOM1 Nonsynonymous SNV D254H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 288795 chr3 111564692 111564692 T C rs376727397 PLCXD2 Synonymous SNV P297P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 3.328 288796 chr3 112999978 112999978 C T rs1056579713 BOC Synonymous SNV N804N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 288797 chr6 46657528 46657528 G A rs138859473 TDRD6 Nonsynonymous SNV A555T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 288798 chr8 4494939 4494939 G C rs562417147 CSMD1 Nonsynonymous SNV T76S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 288799 chr15 101098950 101098950 G A rs539470834 LOC102723335, PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.613 288800 chr16 88495597 88495597 C T rs552893295 ZNF469 Synonymous SNV H573H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.938 288801 chr6 52268336 52268336 T G PAQR8 Nonsynonymous SNV S109A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 288802 chr15 28510852 28510852 C T rs147892890 HERC2 Synonymous SNV P594P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 288803 chr3 121980630 121980630 G A rs62269092 CASR Nonsynonymous SNV E250K 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 12.44 288804 chr15 33300258 33300258 A G rs201255763 FMN1 Nonsynonymous SNV L504S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 288805 chr15 33835901 33835901 A G rs538703172 RYR3 Nonsynonymous SNV N242S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.75 288806 chr15 34544565 34544565 C T rs375887656 SLC12A6 Nonsynonymous SNV R365H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 29.7 288807 chr16 88786876 88786876 C T rs749842564 PIEZO1 Nonsynonymous SNV A1956T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 288808 chr15 38756275 38756275 G A rs115849049 FAM98B Synonymous SNV A38A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 288809 chr16 88793220 88793220 G A rs372935580 PIEZO1 Nonsynonymous SNV T1201M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.7 288810 chr3 126229623 126229623 G A rs762041631 UROC1 Synonymous SNV N47N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.85 288811 chr15 42143338 42143338 G A SPTBN5 Nonsynonymous SNV S3585F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.149 288812 chr15 42299935 42299935 G A rs370777356 PLA2G4E Stop gain R129X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 288813 chr8 24261523 24261523 C T ADAMDEC1 Nonsynonymous SNV T364I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 288814 chr15 42631950 42631950 C T rs144134584 GANC Nonsynonymous SNV R643C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 288815 chr15 42731542 42731542 T C ZNF106 Synonymous SNV G573G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.534 288816 chr15 42978382 42978382 C T rs759200132 STARD9 Nonsynonymous SNV P1536S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 288817 chr17 1961127 1961127 C T rs370995439 HIC1 Synonymous SNV S400S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.31 288818 chr17 2267369 2267369 C T rs374088389 SGSM2 Nonsynonymous SNV A275V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 288819 chr8 28196783 28196783 C G rs76786693 PNOC Nonsynonymous SNV A54G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.557 288820 chr15 45457004 45457004 G C rs144461893 DUOX1 Nonsynonymous SNV G1521R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 288821 chr6 96997651 96997651 C T rs149844923 UFL1 Synonymous SNV D598D 0 0.005 0 0 0 2 0 0 0 0 0 0 14.26 288822 chr8 38117606 38117606 C T rs1029545577 DDHD2 Synonymous SNV T671T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 288823 chr17 4461957 4461957 C T rs752002169 GGT6 Nonsynonymous SNV A247T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 288824 chr7 100151719 100151719 G A rs61742738 AGFG2 Nonsynonymous SNV V197I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.29 288825 chr7 100200231 100200231 T C rs73407353 PCOLCE-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.136 288826 chr7 100238452 100238452 C T rs542567285 TFR2 Synonymous SNV A110A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.6 288827 chr3 142166780 142166780 C T XRN1 Nonsynonymous SNV V3I 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 288828 chr15 63112696 63112696 G A rs200187638 TLN2 Nonsynonymous SNV V2297M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 288829 chr3 1424694 1424694 G A rs376424291 CNTN6 Synonymous SNV S641S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.531 288830 chr8 70541760 70541760 T C rs553015313 SULF1 Synonymous SNV D710D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.173 288831 chr8 72267020 72267020 C G rs561111097 EYA1 Nonsynonymous SNV E41Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 288832 chr17 6913351 6913351 C T rs777885513 ALOX12 Nonsynonymous SNV T573M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 288833 chr15 70975133 70975133 C G rs770205119 UACA Synonymous SNV G249G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 288834 chr7 100551496 100551496 C T rs750740144 MUC3A Nonsynonymous SNV P693S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.218 288835 chr17 7734412 7734412 C A rs763938821 DNAH2 Nonsynonymous SNV A4080E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.001 288836 chr15 73617435 73617435 G A rs117731813 HCN4 Synonymous SNV F613F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.48 288837 chr15 74707242 74707242 C G rs535895939 SEMA7A Nonsynonymous SNV K330N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 288838 chr3 171455827 171455827 G A rs145738077 PLD1 Synonymous SNV N5N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.164 288839 chr8 123964375 123964375 G A rs202189564 ZHX2 Nonsynonymous SNV E209K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.7 288840 chr8 124243759 124243759 T C rs552853265 C8orf76, ZHX1-C8orf76 Nonsynonymous SNV K199R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.421 288841 chr5 5463668 5463668 C T rs62000446 ICE1 Synonymous SNV N1407N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.39 288842 chr16 11791983 11791983 C G rs556299544 TXNDC11 Nonsynonymous SNV E155Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 288843 chr16 11797533 11797533 G A rs375982001 TXNDC11 Synonymous SNV Y289Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.651 288844 chr16 1259356 1259356 C T rs372152910 CACNA1H Synonymous SNV L1230L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.854 288845 chr19 8993031 8993031 G A rs778256098 MUC16 Nonsynonymous SNV R13910W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 288846 chr19 8993033 8993033 T G rs796735167 MUC16 Nonsynonymous SNV H13909P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 288847 chr19 8993036 8993036 G T MUC16 Nonsynonymous SNV T13908N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 288848 chr17 33460453 33460453 G A rs754100854 NLE1 Nonsynonymous SNV R135W 0 0.005 0 0 0 2 0 0 0 0 0 0 35 288849 chr17 33463486 33463486 C T rs764633856 NLE1 Nonsynonymous SNV G287S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 288850 chr7 137773401 137773401 C T rs749224036 AKR1D1 Stop gain R50X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 288851 chr16 1841959 1841959 T G IGFALS Nonsynonymous SNV S192R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.765 288852 chr8 144995412 144995412 G A rs200012425 PLEC Synonymous SNV H2845H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 3.505 288853 chr7 140107593 140107593 G A rs146357700 RAB19 Synonymous SNV T49T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 288854 chr16 2053110 2053110 T A rs748439042 ZNF598 Nonsynonymous SNV Q116L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 288855 chr16 2053111 2053111 G A rs773355095 ZNF598 Stop gain Q116X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 288856 chr17 38031611 38031611 A G rs769610832 ZPBP2 Synonymous SNV Q249Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.315 288857 chr7 142563863 142563865 CAG - rs769469379 EPHB6 S126del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 288858 chr3 391139 391139 G A rs61741128 CHL1 Nonsynonymous SNV V316I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.14 288859 chr16 23641454 23641454 T G PALB2 Nonsynonymous SNV D674A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 288860 chr16 27231713 27231713 G T KDM8 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 288861 chr16 28996792 28996792 C T LAT Synonymous SNV I18I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 288862 chr16 29821471 29821471 C G rs777594577 MAZ Synonymous SNV A146A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.326 288863 chr7 150814205 150814205 C T AGAP3 Synonymous SNV S138S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.3 288864 chr16 2983403 2983403 G A rs201614423 FLYWCH1 Nonsynonymous SNV G357S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 288865 chr7 1511987 1511987 C T rs200867969 INTS1 Nonsynonymous SNV V2036I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.18 288866 chr9 8485885 8485885 T C rs139259906 PTPRD Nonsynonymous SNV T978A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 288867 chr17 39635732 39635732 C T rs757903068 KRT35 Nonsynonymous SNV R193Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 288868 chr3 46940900 46940900 C T PTH1R Synonymous SNV F314F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.54 288869 chr16 3349751 3349751 G A rs143146510 TIGD7 Synonymous SNV D288D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.054 288870 chr3 47545910 47545910 C T ELP6 Nonsynonymous SNV R78H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 288871 chr17 39925225 39925225 G C JUP Nonsynonymous SNV L235V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 288872 chr9 32541434 32541434 C T rs537145680 TOPORS Nonsynonymous SNV R965Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 288873 chr9 33313662 33313662 C T rs148815959 NFX1 Nonsynonymous SNV R487C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 288874 chr3 49570044 49570044 T G DAG1 Nonsynonymous SNV F700L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.6 288875 chr17 42275093 42275093 G C rs146256848 ATXN7L3 Nonsynonymous SNV I19M 0 0.003 0 0 0 1 0 0 0 0 0 0 5.755 288876 chr9 35736226 35736226 C T CREB3 Synonymous SNV V233V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.862 288877 chr6 116443023 116443023 C T rs145214720 COL10A1 Nonsynonymous SNV G86R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25 288878 chr9 77457149 77457149 G A rs191344898 TRPM6 Nonsynonymous SNV T83M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.031 288879 chr3 56627770 56627770 - T CCDC66 0.001 0 0 0 1 0 0 0 0 0 0 0 288880 chr17 48504265 48504265 G C rs189245546 ACSF2 0 0.003 0 0 0 1 0 0 0 0 0 0 2.9 288881 chr7 30963134 30963134 C T rs749008815 AQP1 Nonsynonymous SNV R234C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 288882 chr7 31690757 31690757 G A ITPRID1 Nonsynonymous SNV C862Y 0 0.003 0 0 0 1 0 0 0 0 0 0 17.36 288883 chr17 53076705 53076705 G A rs374274148 STXBP4 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 288884 chr3 66431269 66431269 G A rs148523377 LRIG1 Synonymous SNV V929V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.918 288885 chr17 54991176 54991176 C T rs574593322 TRIM25 Synonymous SNV Q58Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.578 288886 chr16 78005759 78005759 A T VAT1L Nonsynonymous SNV M364L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 288887 chr17 62079123 62079123 G A rs199654128 PRR29 Nonsynonymous SNV D167N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 288888 chr16 81232373 81232373 C T rs548971387 PKD1L2 Synonymous SNV P479P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.662 288889 chr6 149916254 149916254 G A rs143717160 KATNA1 Nonsynonymous SNV A465V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 288890 chr4 100528107 100528107 T C MTTP Nonsynonymous SNV I543T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 288891 chr4 101344190 101344190 G A rs779319831 EMCN Nonsynonymous SNV R173W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 288892 chr17 67187388 67187388 G C rs377397041 ABCA10 Nonsynonymous SNV A647G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 288893 chr7 48467469 48467469 G A ABCA13 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 288894 chr9 112018466 112018466 C T rs770409658 EPB41L4B Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 288895 chr9 112705043 112705043 G C PALM2AKAP2 Nonsynonymous SNV G160R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 288896 chr16 87457431 87457431 C T rs142917424 ZCCHC14 Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 288897 chr4 113462407 113462407 T C rs769170441 ZGRF1 Synonymous SNV L1814L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.925 288898 chr9 117266673 117266673 C G rs41297175 WHRN Nonsynonymous SNV E137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.6 288899 chr7 73151384 73151384 G A rs537791221 ABHD11 Synonymous SNV F173F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.308 288900 chr16 89764689 89764689 C T rs140781725 SPATA2L Nonsynonymous SNV V110M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 288901 chr9 125042803 125042803 A C MRRF Nonsynonymous SNV N45T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 288902 chr7 80293770 80293779 AACATAAGTA - rs778808650 CD36 N65Kfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 288903 chr4 141484506 141484508 TAT - rs763504112 UCP1 I164del 0.001 0 0 0 1 0 0 0 0 0 0 0 288904 chr17 78084781 78084781 C T rs138732016 GAA Synonymous SNV D531D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.7 288905 chr7 97822767 97822767 C T rs777229652 LMTK2 Nonsynonymous SNV P997L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 288906 chr4 156281340 156281340 - TCAA rs749340413 MAP9 Frameshift insertion S344Lfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 288907 chr4 156281341 156281341 G A rs770335327 MAP9 Synonymous SNV T343T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.04 288908 chr17 19642369 19642384 CCCCACCACTGGATGT - rs749818603 ALDH3A1 T381Wfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 288909 chr4 156281343 156281343 - GCAAC rs771156499 MAP9 Frameshift insertion T343Vfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 288910 chr4 156281346 156281346 - G rs778649174 MAP9 Frameshift insertion S342Lfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 288911 chr17 78316984 78316984 C T rs140244096 RNF213 Synonymous SNV N2014N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.277 288912 chr6 4037777 4037777 G C rs775949667 PRPF4B Nonsynonymous SNV R462T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 288913 chr7 99686615 99686615 - GGC rs571882095 COPS6 A10_T11insA 0 0.003 0 0 0 1 0 0 0 0 0 0 288914 chr7 99688744 99688744 G A COPS6 Nonsynonymous SNV M206I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 288915 chr9 135464900 135464900 G A rs986884216 BARHL1 Synonymous SNV Q325Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.099 288916 chr17 26817865 26817865 G A SLC13A2 Nonsynonymous SNV S221N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.084 288917 chr17 27041820 27041820 C G RAB34 Nonsynonymous SNV D235H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 288918 chr8 104987596 104987596 G A rs773465807 RIMS2 Nonsynonymous SNV R769Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 288919 chr17 27287871 27287871 C T rs763363589 SEZ6 Nonsynonymous SNV R454Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 288920 chr8 110592047 110592047 C T rs769986186 SYBU Nonsynonymous SNV D109N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 288921 chr9 139270818 139270818 C T rs200723535 SNAPC4 Nonsynonymous SNV R1467Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 288922 chr17 3301563 3301563 G A rs199893182 OR1E1 Nonsynonymous SNV L48F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.496 288923 chr6 5086413 5086413 G A rs745742366 PPP1R3G Nonsynonymous SNV E232K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 288924 chr9 139390742 139390742 C T rs375728200 NOTCH1 Synonymous SNV T2483T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.06 288925 chr9 139752153 139752153 G A rs773909667 MAMDC4 Nonsynonymous SNV R790Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.097 288926 chr6 42073593 42073593 G A rs373980138 C6orf132 Nonsynonymous SNV T686I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.516 288927 chr9 140066121 140066121 C T rs758449537 TMEM210 Nonsynonymous SNV V66M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 288928 chr17 37313176 37313176 A G rs151045610 ARL5C Nonsynonymous SNV W171R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 288929 chr9 140328433 140328433 C T NOXA1 Nonsynonymous SNV P343L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 288930 chr17 38457779 38457779 A G rs4135031 CDC6 Synonymous SNV S504S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.86 288931 chr9 140409908 140409908 G A rs144167030 PNPLA7 Nonsynonymous SNV A358V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.48 288932 chr9 140507400 140507400 C A ARRDC1 Nonsynonymous SNV D57E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 288933 chr9 140611424 140611424 C T rs139461232 EHMT1 Synonymous SNV A113A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.97 288934 chr18 47363917 47363917 A G rs138128932 MYO5B Nonsynonymous SNV V1703A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 288935 chr18 47363930 47363930 A G rs79271359 MYO5B Synonymous SNV L1699L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.874 288936 chr18 47363931 47363931 G C rs77840018 MYO5B Synonymous SNV L1698L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.146 288937 chr10 13320305 13320305 - GAT rs566116760 PHYH N249_L250insH 0.003 0 0.003 0 3 0 0 1 0 0 0 0 288938 chr17 41102652 41102652 C T rs771329090 AARSD1, PTGES3L-AARSD1 Synonymous SNV A399A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 288939 chr11 122756611 122756611 T C JHY Synonymous SNV H18H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 288940 chr17 42398592 42398592 G A rs146803643 SLC25A39 Synonymous SNV T152T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.262 288941 chr17 42925539 42925539 T C rs553891653 HIGD1B Nonsynonymous SNV W7R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 288942 chr6 76385721 76385721 T A rs780472784 SENP6 Nonsynonymous SNV N517K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 288943 chr4 6296781 6296781 C T rs71524381 WFS1 Synonymous SNV I242I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.96 288944 chr17 45915951 45915951 T C rs546999372 SCRN2 Nonsynonymous SNV Q295R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 288945 chr17 45992695 45992695 G A SP2 Nonsynonymous SNV A9T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 288946 chr8 145166669 145166669 C T rs369827021 WDR97 Synonymous SNV Y874Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.557 288947 chr10 28023663 28023663 T A rs558586786 MKX Nonsynonymous SNV H187L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 288948 chr17 46700472 46700472 G A rs371256693 HOXB9 Synonymous SNV H181H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.116 288949 chr4 68693208 68693208 C A TMPRSS11D Synonymous SNV T241T 0.001 0 0 2 1 0 0.005 0 0 0 0 0 15.19 288950 chr4 68693209 68693209 G T TMPRSS11D Nonsynonymous SNV T241K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 24.9 288951 chr6 89967681 89967681 A C rs79876014 GABRR2 Nonsynonymous SNV M369R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 288952 chr17 47284137 47284137 A G rs534482384 GNGT2 Synonymous SNV G64G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 288953 chr17 48453202 48453202 C A rs141753068 EME1 Nonsynonymous SNV H211Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 288954 chr4 74318133 74318133 G A rs200196094 AFP Nonsynonymous SNV G482R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 288955 chr4 76797724 76797727 ATGG - rs753405708 PPEF2 P345Gfs*53 0.001 0 0 0 1 0 0 0 0 0 0 0 288956 chr10 47086901 47086901 G A rs148605550 NPY4R, NPY4R2 Nonsynonymous SNV V40M 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 288957 chr19 648158 648158 G C RNF126 Synonymous SNV P275P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.979 288958 chr8 21958156 21958156 G A rs760902459 FAM160B2 Nonsynonymous SNV E464K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.65 288959 chr8 22471914 22471914 C T rs201513971 CCAR2 Synonymous SNV L313L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 288960 chr7 115891920 115891920 C T rs778344836 TES Nonsynonymous SNV T270I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 288961 chr19 1122554 1122554 G A rs373082830 SBNO2 Synonymous SNV F249F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.643 288962 chr17 650015 650015 T C rs200565665 GEMIN4 Nonsynonymous SNV Y423C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 288963 chr4 89680039 89680039 T C FAM13A Nonsynonymous SNV K177R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 288964 chr7 128480184 128480184 G A rs189525930 FLNC Nonsynonymous SNV G507R 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 288965 chr7 128615898 128615898 C T rs370591499 TNPO3 Nonsynonymous SNV R654Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 288966 chr17 71747352 71747352 G C rs187906678 LOC100134391 Nonsynonymous SNV G128R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.921 288967 chr19 4054793 4054793 T C ZBTB7A Synonymous SNV V146V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 288968 chr8 55537822 55537822 G C rs143494598 RP1 Nonsynonymous SNV K460N 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 288969 chr17 72368372 72368372 G A rs138844667 GPR142 Nonsynonymous SNV R253Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 288970 chr10 79565484 79565484 C T rs137872892 DLG5 Synonymous SNV K1701K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 288971 chr19 4361777 4361777 C T rs756923164 SH3GL1 Synonymous SNV P261P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 288972 chr7 1024861 1024861 C G rs117826462 CYP2W1 Nonsynonymous SNV L183V 0.002 0 0 0 2 0 0 0 0 0 0 0 19.77 288973 chr17 73126571 73126587 CGGCATCCCCGCTCATT - rs754899584 NT5C E161Afs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 288974 chr8 8176077 8176077 G A PRAG1 Nonsynonymous SNV R1270C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 288975 chr10 94654761 94654761 G A rs148401648 EXOC6 Synonymous SNV L132L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.709 288976 chr19 5686918 5686918 G A HSD11B1L Synonymous SNV L27L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.24 288977 chr8 8235184 8235184 G A rs772905714 PRAG1 Synonymous SNV S245S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.523 288978 chr17 74465812 74465812 C T rs200468284 AANAT Synonymous SNV R128R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.363 288979 chr17 75398506 75398506 C T rs544797046 SEPTIN9 Nonsynonymous SNV R141W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.8 288980 chr17 7680166 7680166 C T rs534335342 DNAH2 Nonsynonymous SNV R1673W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 288981 chr17 7794010 7794012 AGA - rs749962619 CHD3 K173del 0 0 0.003 0 0 0 0 1 0 0 0 0 288982 chr9 110064319 110064319 A G RAD23B Nonsynonymous SNV K30R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 288983 chr12 49440108 49440108 G C KMT2D Synonymous SNV T1506T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.866 288984 chr7 140158956 140158956 C G MKRN1 Nonsynonymous SNV E208Q 0.002 0 0 0 2 0 0 0 0 0 0 0 16.6 288985 chr12 50790148 50790148 G A FAM186A Synonymous SNV N40N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.131 288986 chr9 113341441 113341441 G A SVEP1 Nonsynonymous SNV S128L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 288987 chr9 114412066 114412068 AAA - rs753724007 DNAJC25 K275del 0 0.003 0 0 0 1 0 0 0 0 0 0 288988 chr10 106401231 106401231 C A rs974141784 SORCS3 Nonsynonymous SNV P49Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.48 288989 chr5 145493701 145493701 T A LARS1 Nonsynonymous SNV I1121F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 288990 chr7 143085750 143085750 C T ZYX Nonsynonymous SNV T407I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 288991 chr9 115626615 115626615 A G rs761572278 SNX30 Nonsynonymous SNV K397R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 288992 chr7 31016059 31016059 G A rs369089111 GHRHR Synonymous SNV S330S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 288993 chr18 20569210 20569210 C G rs34372414 RBBP8 Nonsynonymous SNV P246A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 288994 chr18 21646089 21646089 T C rs8083357 TTC39C Synonymous SNV N110N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.66 288995 chr7 37907433 37907433 C T rs113330102 NME8 Stop gain R251X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 288996 chr19 10624995 10624995 C T rs757641553 S1PR5 Synonymous SNV G231G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.779 288997 chr18 29126255 29126255 C T rs373598034 DSG2 Nonsynonymous SNV A969V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 288998 chr18 44266154 44266154 G A rs372697182 ST8SIA5 Synonymous SNV S153S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 288999 chr9 131380030 131380030 G A rs142234188 SPTAN1 Synonymous SNV P1798P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.49 289000 chr9 13158079 13158079 C A MPDZ Nonsynonymous SNV E1130D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.09 289001 chr18 54424101 54424103 TGA - rs777739680 WDR7 D761del 0 0 0.003 0 0 0 0 1 0 0 0 0 289002 chr19 15198653 15198653 C T rs768693404 OR1I1 Synonymous SNV Y259Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.071 289003 chr9 133779557 133779557 G A rs12342367 FIBCD1 Nonsynonymous SNV A427V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.85 289004 chr11 556890 556890 G A rs180958735 LMNTD2 Synonymous SNV R307R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.368 289005 chr18 6985541 6985541 T C rs138711280 LAMA1 Synonymous SNV V1827V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.194 289006 chr18 74092100 74092102 CTA - ZNF516 S657del 0 0 0.003 0 0 0 0 1 0 0 0 0 289007 chr9 136596574 136596574 C A rs145736174 SARDH Synonymous SNV V181V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.8 289008 chr9 138516188 138516188 C T rs182523305 GLT6D1 Nonsynonymous SNV A196T 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 289009 chr18 9258099 9258099 A G ANKRD12 Nonsynonymous SNV K1589E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 289010 chr19 10108048 10108048 G A rs201475782 COL5A3 Nonsynonymous SNV P421L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.164 289011 chr19 18572428 18572428 G A rs148006079 ELL Nonsynonymous SNV T235M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 289012 chr9 140130532 140130532 T C rs144666114 SLC34A3 Synonymous SNV A488A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.259 289013 chr9 140150039 140150039 G T rs201291926 NELFB Synonymous SNV P74P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 289014 chr19 1122273 1122273 G A rs377463009 SBNO2 Synonymous SNV Y281Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.634 289015 chr19 21607295 21607295 C T rs761682430 ZNF493 Stop gain R484X 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 289016 chr19 24290033 24290033 T A rs776753986 ZNF254 Stop gain L90X 0 0.003 0 0 0 1 0 0 0 0 0 0 3.044 289017 chr19 30193632 30193632 T C rs73023451 C19orf12 Nonsynonymous SNV Q74R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.002 289018 chr9 18661995 18661995 T G rs141659739 ADAMTSL1 Nonsynonymous SNV Y337D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 289019 chr19 4695417 4695417 G A rs201249428 DPP9 Synonymous SNV Y442Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.434 289020 chr5 60831415 60831415 T C rs775503010 ZSWIM6 Synonymous SNV L784L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.334 289021 chr19 15338323 15338323 C T rs369724989 EPHX3 Synonymous SNV G336G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.81 289022 chr19 34941218 34941218 C T rs531406361 UBA2 Nonsynonymous SNV R274W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 289023 chr19 15483804 15483804 G T rs374389542 AKAP8 Nonsynonymous SNV P240H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.89 289024 chr9 27566798 27566798 G C C9orf72 Synonymous SNV R107R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.349 289025 chr9 33369967 33369967 C G rs201796076 NFX1 Synonymous SNV V1119V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 289026 chr9 33922851 33922851 G A UBAP2 Nonsynonymous SNV A272V 0 0.003 0 0 0 1 0 0 0 0 0 0 24 289027 chr11 1276744 1276744 G A rs201333268 MUC5B Nonsynonymous SNV R5341Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 289028 chr11 1481932 1481932 C T rs754710912 BRSK2 Synonymous SNV T730T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 289029 chr19 16008304 16008304 C T rs201106180 CYP4F2 Nonsynonymous SNV A40T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.043 289030 chr19 7553854 7553854 T A PEX11G Nonsynonymous SNV R15W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 289031 chr5 74046462 74046462 C T rs371589931 GFM2 Nonsynonymous SNV R154Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 289032 chr9 37525139 37525139 G A rs140730741 FBXO10 Synonymous SNV A579A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 289033 chr11 3844191 3844191 C T PGAP2 Stop gain Q63X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.064 289034 chr11 3849236 3849236 C T rs144519111 RHOG Nonsynonymous SNV A45T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 289035 chr9 74300197 74300197 C T rs374770064 CEMIP2 Synonymous SNV Q1293Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.824 289036 chr8 133920513 133920513 C T rs143023529 TG Synonymous SNV Y1310Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.591 289037 chr19 19637021 19637021 C A rs146785123 NDUFA13 Nonsynonymous SNV T42N 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 289038 chr19 19648220 19648220 T C rs545964787 YJEFN3 Nonsynonymous SNV F213L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 289039 chr19 19681631 19681631 G A rs755156215 PBX4 Nonsynonymous SNV R69C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 289040 chr19 19822917 19822918 AT - rs764822385 ZNF14 Stop gain Y391* 0 0 0.007 0 0 0 0 2 0 0 0 0 289041 chr19 19869068 19869068 C G rs375209315 LINC00663 0 0 0.007 0 0 0 0 2 0 0 0 0 0.907 289042 chr19 2073412 2073412 G A rs373193407 MOB3A Synonymous SNV T212T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 289043 chr19 38956971 38956971 C T rs145434723 RYR1 Synonymous SNV S1037S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.74 289044 chr19 39002913 39002913 G A rs145044872 RYR1 Nonsynonymous SNV V3088M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 289045 chr19 2833812 2833812 T C rs201502817 ZNF554 Synonymous SNV H193H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 289046 chr8 144654869 144654869 A C MROH6 Nonsynonymous SNV W6G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.61 289047 chr19 33298507 33298507 C T rs550817829 TDRD12 Nonsynonymous SNV P869S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 289048 chr19 33878823 33878823 G A rs369183873 PEPD Synonymous SNV V398V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.55 289049 chr11 5862929 5862929 T C rs896111509 OR52E6 Nonsynonymous SNV M67V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.408 289050 chr19 35786621 35786621 G A rs200718920 MAG Nonsynonymous SNV R26Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 289051 chr19 36033852 36033852 C T rs569149295 GAPDHS Nonsynonymous SNV A222V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29.4 289052 chr19 36051393 36051393 T C rs569237887 ATP4A Nonsynonymous SNV Q220R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.08 289053 chr19 36279226 36279226 G C rs748747603 ARHGAP33 Nonsynonymous SNV L1089F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 289054 chr8 145732305 145732305 - C rs776744432 GPT Frameshift insertion E475Gfs*72 0.001 0 0 0 1 0 0 0 0 0 0 0 289055 chr19 37905146 37905146 C T rs372002839 ZNF569 Synonymous SNV E138E 0 0 0.007 0 0 0 0 2 0 0 0 0 1.096 289056 chr11 7022551 7022551 C G rs201254763 ZNF214 Synonymous SNV L121L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 289057 chr19 39360052 39360052 T G RINL 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 289058 chr19 39798368 39798368 C T rs201713211 LRFN1 Nonsynonymous SNV G741S 0 0 0.007 0 0 0 0 2 0 0 1 0 16.95 289059 chrX 152482420 152482420 A G MAGEA1 Synonymous SNV I197I 0 0.005 0 0 0 2 0 0 0 0 0 0 0.01 289060 chr19 46268790 46268790 G A rs150045306 SIX5 Nonsynonymous SNV S730L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 289061 chrX 153033110 153033110 C T rs782148775 PLXNB3 Synonymous SNV Y276Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.291 289062 chr19 40719778 40719778 G A MAP3K10 Nonsynonymous SNV R731H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 289063 chr6 13320968 13320968 G C TBC1D7 Nonsynonymous SNV P158A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.141 289064 chrX 36049450 36049450 G T CFAP47 Nonsynonymous SNV V1213F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.14 289065 chr8 17612900 17612900 C T rs199854201 MTUS1 Synonymous SNV V139V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 289066 chr19 44339705 44339705 A G rs144756213 ZNF283 Synonymous SNV G57G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.635 289067 chr8 20112459 20112459 A T LZTS1 Nonsynonymous SNV H78Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.823 289068 chr11 18497148 18497148 G A LDHAL6A Nonsynonymous SNV C185Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 289069 chrX 69478754 69478754 G C P2RY4 Nonsynonymous SNV L241V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.733 289070 chr14 21825439 21825439 G A rs199576369 SUPT16H Synonymous SNV I859I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.54 289071 chr19 50386991 50386991 G A rs147045240 TBC1D17 Nonsynonymous SNV R339H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 289072 chr11 25071640 25071640 A G LUZP2 Synonymous SNV E232E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.633 289073 chr19 45496029 45496029 C T rs372225703 CLPTM1 Synonymous SNV T614T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.833 289074 chr8 67771662 67771662 T G rs150440508 C8orf44-SGK3, SGK3 Nonsynonymous SNV I414S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 289075 chr11 32858246 32858246 G A rs750549239 PRRG4 Nonsynonymous SNV R49H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.166 289076 chr6 167343199 167343199 C T rs35517174 RNASET2 Synonymous SNV P216P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.08 289077 chr14 24898607 24898607 G A rs778075491 KHNYN Nonsynonymous SNV E34K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.75 289078 chr11 46625450 46625450 G A rs201053799 HARBI1 Nonsynonymous SNV S227F 0.002 0 0 0 2 0 0 0 0 0 0 0 21.5 289079 chr19 4891425 4891425 G A rs557241391 ARRDC5 Nonsynonymous SNV T207M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 289080 chr11 47202185 47202185 G A rs141863074 PACSIN3 Nonsynonymous SNV R90W 0.002 0 0 0 2 0 0 0 0 0 0 0 27 289081 chr19 4932721 4932721 C T rs763956187 MIR4747 0 0 0.003 0 0 0 0 1 0 0 0 0 5.028 289082 chr19 37005802 37005802 A G ZNF260 Synonymous SNV C113C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 289083 chr14 51379013 51379013 C T rs774872592 PYGL Synonymous SNV K509K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.74 289084 chr19 51321627 51321627 C T rs564468722 LINC01869 0 0 0.003 0 0 0 0 1 0 0 0 0 9.461 289085 chr14 55467233 55467233 T C WDHD1 Synonymous SNV T187T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.211 289086 chr6 35086114 35086114 A G rs777960647 TCP11 Nonsynonymous SNV Y341H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 289087 chr14 60212962 60212962 C T RTN1 Nonsynonymous SNV G160D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.49 289088 chr6 35443458 35443458 T C TEAD3 Nonsynonymous SNV E309G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 289089 chr6 36995290 36995290 G A rs768699458 FGD2 Nonsynonymous SNV R564Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 289090 chr10 13702522 13702522 G T rs781426735 FRMD4A Synonymous SNV P255P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.959 289091 chr19 53740759 53740759 C T rs372722756 ZNF677 Synonymous SNV E407E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 289092 chr19 541502 541502 G A rs771514074 CDC34 Nonsynonymous SNV D221N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 289093 chr6 43023827 43023827 C T rs532734983 MRPL2 Nonsynonymous SNV R171Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 289094 chr14 70171391 70171391 G A rs148189458 SUSD6 Synonymous SNV A130A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 289095 chr9 133960999 133960999 G A rs201780404 LAMC3 Synonymous SNV T1373T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.147 289096 chr9 134735981 134735981 G A MED27 Nonsynonymous SNV P258S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 30 289097 chr19 57932572 57932572 G A rs752183738 ZNF17 Nonsynonymous SNV R571Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 289098 chr11 57156701 57156701 G T rs142628389 PRG2 Nonsynonymous SNV P50T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.346 289099 chr20 1291047 1291047 C T rs199519469 FKBP1A-SDCBP2 0 0.003 0 0 0 1 0 0 0 0 0 0 2.21 289100 chr9 140346841 140346841 G A rs371490890 NSMF Synonymous SNV I379I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 289101 chr20 3025358 3025358 T C rs368671021 GNRH2 Nonsynonymous SNV V63A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 289102 chr14 100374019 100374019 T C rs138056711 EML1 Synonymous SNV H351H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.148 289103 chr20 3781450 3781450 G A rs367573455 CDC25B Nonsynonymous SNV G110S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.096 289104 chr19 7600847 7600847 T C rs188353745 PNPLA6 Nonsynonymous SNV V58A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.2 289105 chr11 63177324 63177324 C T rs142543443 SLC22A9 Nonsynonymous SNV T551M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 289106 chr19 8841528 8841528 C T OR2Z1 Synonymous SNV L46L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.231 289107 chr11 63753979 63753979 C G OTUB1 Nonsynonymous SNV D17E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 289108 chr11 65386076 65386076 G A rs201600279 PCNX3 Nonsynonymous SNV G415S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.53 289109 chr20 30617555 30617555 G A rs749780270 CCM2L Nonsynonymous SNV G418R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 289110 chr11 65829374 65829374 G A SF3B2 Nonsynonymous SNV V628I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 289111 chr11 65988130 65988130 G A rs575346582 PACS1 Nonsynonymous SNV R356H 0.003 0 0 0 3 0 0 0 0 0 0 0 27.5 289112 chr9 140130520 140130520 C T rs775709613 SLC34A3 Synonymous SNV Y484Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.445 289113 chr11 67067587 67067587 G A ANKRD13D Nonsynonymous SNV V356I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 289114 chr11 68575086 68575086 G C CPT1A Nonsynonymous SNV T101R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 289115 chr1 101705594 101705594 C T rs752949411 S1PR1 Nonsynonymous SNV R352C 0 0 0.007 0 0 0 0 2 0 0 1 0 23.6 289116 chr11 68705791 68705791 G A rs368584364 IGHMBP2 Nonsynonymous SNV R918H 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 16.21 289117 chr1 1078171 1078171 C T rs771995757 LINC01342 0 0 0.003 0 0 0 0 1 0 0 0 0 5.724 289118 chr20 42168801 42168801 C T rs368743623 L3MBTL1 Synonymous SNV P638P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.365 289119 chr11 71942167 71942167 C T rs374378161 INPPL1 Synonymous SNV G477G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 289120 chr15 41814409 41814409 A G rs147913656 RPAP1 Nonsynonymous SNV F928L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.86 289121 chr15 41991127 41991127 A T MGA Nonsynonymous SNV T694S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 289122 chr20 44003748 44003748 A G rs779451310 TP53TG5 Synonymous SNV R233R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.038 289123 chr15 42978404 42978404 A G rs992458573 STARD9 Nonsynonymous SNV N1543S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.73 289124 chr1 113232584 113232584 A G rs770891090 MOV10 Nonsynonymous SNV I234V 0 0 0.007 0 0 0 0 2 0 0 1 0 25.2 289125 chr1 114397662 114397662 T C rs557006684 PTPN22 Nonsynonymous SNV T160A 0 0 0.007 0 0 0 0 2 0 0 1 0 21.7 289126 chrX 133948871 133948871 C T rs201102053 FAM122C Nonsynonymous SNV R61C 0.003 0 0 0 3 0 0 0 0 0 0 0 19.29 289127 chr20 47865306 47865306 C T rs140091422 ZNFX1 Nonsynonymous SNV V1419M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.04 289128 chr20 47868064 47868064 C T rs144375900 ZNFX1 Synonymous SNV K1104K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.07 289129 chr20 47990915 47990915 C T rs77238446 KCNB1 Synonymous SNV G394G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.211 289130 chr1 116655265 116655265 A G rs773732671 MAB21L3 Nonsynonymous SNV E10G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 289131 chr9 37745128 37745128 A C rs771170090 FRMPD1 Synonymous SNV L1033L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 289132 chr9 37745690 37745690 G A rs200892375 FRMPD1 Nonsynonymous SNV V1221I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.057 289133 chrX 138669941 138669941 T G rs978892103 MCF2 Nonsynonymous SNV K780T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.52 289134 chr15 45392990 45392990 G C DUOX2 Nonsynonymous SNV L990V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.153 289135 chr15 45437128 45437128 G A rs766957459 DUOX1 Synonymous SNV A724A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 289136 chr11 85445669 85445669 T A rs3910283 SYTL2 Nonsynonymous SNV I234F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 289137 chr15 48500106 48500106 C A rs754666663 SLC12A1 Nonsynonymous SNV P64T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 289138 chr9 7169871 7169871 A G rs772178343 KDM4C Nonsynonymous SNV K737R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 289139 chr20 61575029 61575029 C T rs756221773 GID8 Synonymous SNV T166T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 289140 chrX 37641402 37641402 C T CYBB Nonsynonymous SNV P36L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 289141 chr11 103044802 103044802 G C DYNC2H1 Nonsynonymous SNV Q1859H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 289142 chr1 145563014 145563014 G T rs370875034 ANKRD35 Nonsynonymous SNV R811L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 289143 chr11 107975060 107975060 A G rs373370751 CUL5 Synonymous SNV K764K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 289144 chr1 152324743 152324743 A G rs745678733 FLG2 Nonsynonymous SNV V1840A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 289145 chr15 65930486 65930486 G A rs372995067 SLC24A1 Synonymous SNV A637A 0 0 0.007 2 0 0 0.005 2 0 0 0 0 Uncertain significance 13.25 289146 chr11 105850445 105850445 C G rs149657082 GRIA4 Synonymous SNV V896V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.52 289147 chr11 114270997 114270997 G C rs115808383 C11orf71 Stop gain Y19X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 289148 chr1 154956425 154956425 C T FLAD1 Synonymous SNV Y85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 289149 chr11 118498885 118498885 G A rs145090703 PHLDB1 Nonsynonymous SNV R449Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 289150 chr1 156035733 156035733 G C rs199754703 RAB25 Nonsynonymous SNV K25N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 289151 chr11 120856893 120856893 G A GRIK4 Nonsynonymous SNV R932Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 289152 chr1 1564072 1564072 G A rs564754621 MIB2 Synonymous SNV G774G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.856 289153 chr11 121391367 121391367 T C SORL1 Nonsynonymous SNV Y405H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 289154 chr21 40193613 40193613 C T rs116476013 ETS2 Synonymous SNV L393L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.41 289155 chr21 40800373 40800373 A G rs80329269 LCA5L Nonsynonymous SNV F16S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.944 289156 chr10 112771407 112771407 A G rs143242369 SHOC2 Nonsynonymous SNV N481S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.9 289157 chr15 83349631 83349631 G T rs959711720 AP3B2 Synonymous SNV L211L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.97 289158 chr1 158450313 158450313 G A rs553674516 OR10R2 Nonsynonymous SNV E216K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 289159 chr10 116037701 116037701 G T rs774185797 VWA2 Stop gain E199X 0 0.003 0 0 0 1 0 0 0 0 0 0 43 289160 chr21 44838413 44838413 C G rs140222760 SIK1, SIK1B Nonsynonymous SNV V491L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.853 289161 chr15 86800116 86800116 C G rs183456981 AGBL1 Synonymous SNV V256V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.348 289162 chr15 86800212 86800212 G A rs190666485 AGBL1 Synonymous SNV G288G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.899 289163 chr10 121556346 121556346 T G rs768169121 INPP5F Synonymous SNV P263P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.091 289164 chr11 126120417 126120417 G A rs374700370 FAM118B Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 289165 chr7 2394955 2394955 C T rs775496903 EIF3B Synonymous SNV G133G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.392 289166 chr10 123970253 123970253 G A rs143340046 TACC2 Nonsynonymous SNV A183T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.47 289167 chr1 160137200 160137200 C T rs760528206 ATP1A4 Stop gain Q497X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 289168 chr15 91303839 91303839 G A rs762617509 BLM Synonymous SNV T412T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.6 289169 chr1 166593945 166593945 C T rs573270798 FMO9P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.659 289170 chr22 20760223 20760223 C T rs760856663 ZNF74 Synonymous SNV G229G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 289171 chr1 1139603 1139603 C T rs200158513 TNFRSF18 Nonsynonymous SNV G138R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.277 289172 chr10 134735688 134735688 C T rs746681315 CFAP46 Nonsynonymous SNV R509Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 289173 chr1 1857333 1857333 G A CFAP74 Synonymous SNV T1331T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 289174 chr1 169831932 169831932 G A rs771522812 SCYL3 Nonsynonymous SNV A321V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 289175 chr1 172628600 172628600 T C rs530390117 FASLG Nonsynonymous SNV F87L 0 0 0.007 0 0 0 0 2 0 0 0 0 16.41 289176 chr10 17113831 17113831 T C rs770392464 CUBN Nonsynonymous SNV Q814R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 289177 chr1 17565111 17565111 G A rs781670850 PADI1 Nonsynonymous SNV G487S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 289178 chr1 17668482 17668482 T A rs145512361 PADI4 Nonsynonymous SNV W233R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 289179 chr10 22896916 22896916 G A rs183842371 PIP4K2A Synonymous SNV Y34Y 0 0.003 0 0 0 1 0 0 0 0 0 0 8.109 289180 chr12 8242845 8242845 C T rs137964265 NECAP1 Nonsynonymous SNV T84M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 289181 chr22 30125173 30125173 G A rs764847213 CABP7 Nonsynonymous SNV E166K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 289182 chr22 30762046 30762046 C T rs41281639 CCDC157 Synonymous SNV T19T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 289183 chr1 10705105 10705105 C T rs773451210 CASZ1 Nonsynonymous SNV R1246H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 289184 chr7 4901353 4901353 G A PAPOLB Nonsynonymous SNV A30V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 289185 chr7 4901354 4901354 C A PAPOLB Nonsynonymous SNV A30S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 289186 chr22 33780226 33780226 G A rs778094231 LARGE1 Synonymous SNV T319T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.87 289187 chr1 16461652 16461652 G A rs753653913 EPHA2 Synonymous SNV T433T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 289188 chr1 16719893 16719893 G A SZRD1 Nonsynonymous SNV R91Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 289189 chr12 18719939 18719939 A G rs563891575 PIK3C2G Nonsynonymous SNV D1279G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 289190 chr12 21196511 21196511 G A rs151104329 SLCO1B7 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 289191 chr10 50340380 50340380 C T FAM170B Nonsynonymous SNV G44R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.686 289192 chr12 25347940 25347940 A C CASC1 Nonsynonymous SNV N19K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.407 289193 chr1 201123019 201123019 C T rs147736242 TMEM9 Synonymous SNV G11G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.8 289194 chr1 201175845 201175845 C T rs572025261 IGFN1 Synonymous SNV S608S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.866 289195 chr22 44286992 44286992 C A rs200111581 PNPLA5 Stop gain G126X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 289196 chr22 45719137 45719137 C T FAM118A Synonymous SNV A43A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.44 289197 chr22 45958823 45958823 C T rs150270544 FBLN1 Nonsynonymous SNV R577W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.88 289198 chr10 6060057 6060057 G A rs12722698 IL2RA Synonymous SNV I155I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 5.324 289199 chr12 45761554 45761554 A G rs143099169 ANO6 Nonsynonymous SNV N361S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 289200 chr12 48543447 48543447 C T rs140837255 ASB8 Nonsynonymous SNV R190H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 289201 chr12 48919552 48919552 G T rs377377130 OR8S1 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 289202 chr22 50897745 50897745 G A rs201985055 SBF1 Synonymous SNV Y1256Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.522 289203 chr10 73472529 73472529 A G rs757508152 CDH23 Nonsynonymous SNV S1110G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 20.1 289204 chr1 21175943 21175943 T C rs778357165 EIF4G3 Nonsynonymous SNV I1229V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 289205 chrX 19984574 19984574 G T rs143234295 BCLAF3 Nonsynonymous SNV P79T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 289206 chrX 24006881 24006881 G A rs144704626 KLHL15 Synonymous SNV I324I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.464 289207 chrX 36254065 36254065 C T rs28473164 CFAP47 Synonymous SNV N2343N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.075 289208 chrX 37979669 37979669 G A rs779699577 SYTL5 Nonsynonymous SNV R574H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 289209 chrX 41202525 41202525 T C rs777274761 DDX3X Synonymous SNV Y184Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.106 289210 chrX 43626848 43626848 G A rs762665688 MAOB Synonymous SNV P476P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.176 289211 chrX 46472775 46472775 G A rs142901343 SLC9A7 Synonymous SNV P626P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.191 289212 chr8 121518951 121518951 G T MTBP Nonsynonymous SNV G578V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 289213 chr1 225270259 225270259 A G DNAH14 Nonsynonymous SNV K1049E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.644 289214 chr1 225380528 225380528 G A rs775576952 DNAH14 Nonsynonymous SNV R1934Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 289215 chr22 29130611 29130611 T C rs925489951 CHEK2 Synonymous SNV S33S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.18 289216 chrX 71684580 71684580 C T HDAC8 Nonsynonymous SNV V156I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.64 289217 chrX 74494273 74494273 G A UPRT Nonsynonymous SNV A62T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.65 289218 chr12 56482351 56482351 C - rs775916001 ERBB3 C301Vfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 289219 chr16 69776468 69776468 T C NOB1 Nonsynonymous SNV I336V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.026 289220 chr11 55594992 55594992 C T rs765592422 OR5L2 Stop gain Q100X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 289221 chrX 103268002 103268002 G A rs200653934 H2BW1 Synonymous SNV R77R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.66 289222 chr12 57618741 57618741 C T rs377450314 NXPH4 Synonymous SNV P46P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.659 289223 chr12 57919531 57919531 C T rs373663132 MBD6 Synonymous SNV L260L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 289224 chr22 38130452 38130452 A G rs890718506 TRIOBP Nonsynonymous SNV Q1370R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 289225 chrX 119580227 119580227 C T rs200934351 LAMP2 Nonsynonymous SNV R266H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.35 289226 chr16 75579327 75579327 G A TMEM231 Stop gain Q222X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 289227 chr22 40057244 40057244 C A rs768394828 CACNA1I Nonsynonymous SNV L909M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 289228 chr12 67692745 67692745 A G rs913278935 CAND1 Synonymous SNV V290V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.728 289229 chr1 231727311 231727311 G A rs41271513 LINC00582 0 0 0.003 0 0 0 0 1 0 0 0 0 6.924 289230 chrX 135496396 135496396 A G ADGRG4 Nonsynonymous SNV T3039A 0 0.003 0 0 0 1 0 0 0 0 0 0 2.74 289231 chr1 23419950 23419950 T C rs140949865 LUZP1 Nonsynonymous SNV N269D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.393 289232 chr1 235345135 235345135 G A rs373076833 ARID4B Synonymous SNV V947V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.324 289233 chr1 235596296 235596296 C T TBCE Synonymous SNV L232L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 289234 chr8 144922123 144922123 T C NRBP2 Nonsynonymous SNV D111G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 289235 chr1 237791276 237791276 C T rs373777614 RYR2 Synonymous SNV S2112S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.18 289236 chr1 240979688 240979688 T C rs199976031 RGS7 Nonsynonymous SNV R185G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 289237 chr8 145621858 145621858 G A rs782110971 CPSF1 Synonymous SNV R927R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 289238 chr11 108380281 108380281 T C rs146199863 EXPH5 Nonsynonymous SNV K1797E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 26.8 289239 chr11 10875976 10875976 C T rs533562245 ZBED5 Nonsynonymous SNV D173N 0 0.005 0 0 0 2 0 0 0 1 0 0 14.66 289240 chr1 246711869 246711869 G A rs373807670 TFB2M Nonsynonymous SNV P279L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 289241 chr1 1231147 1231147 G T rs147071154 ACAP3 Synonymous SNV P558P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.68 289242 chr1 24710487 24710487 T C rs200647962 STPG1 Nonsynonymous SNV I19V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 289243 chr1 247267289 247267289 G C ZNF669 Nonsynonymous SNV H71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 289244 chr1 248058990 248058990 G A rs145243011 OR2W3 Synonymous SNV A34A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.041 289245 chr12 108686583 108686583 G A rs779984645 CMKLR1 Nonsynonymous SNV L53F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 289246 chr1 248202416 248202416 A G rs146013990 OR2L2 Nonsynonymous SNV M283V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 289247 chr1 248285586 248285586 T C rs760759586 OR2M1P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.568 289248 chr1 92447227 92447227 - AGC rs755872797 BRDT S602_E603insS 0.002 0 0 0 2 0 0 0 0 0 0 0 289249 chr1 248845476 248845476 T C rs139354059 OR14I1 Nonsynonymous SNV I44V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 289250 chr12 112374546 112374546 C G TMEM116 Nonsynonymous SNV G145R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 289251 chr1 9074811 9074811 G A rs765822995 SLC2A7 Nonsynonymous SNV R278W 0 0 0 2 0 0 0.005 0 0 0 0 0 26.4 289252 chr1 26673114 26673114 T G rs745774427 CRYBG2 Nonsynonymous SNV K12T 0 0 0.003 0 0 0 0 1 0 0 0 0 14 289253 chr1 10719920 10719920 G A rs778564897 CASZ1 Synonymous SNV P393P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.113 289254 chr1 28879627 28879627 C T rs769860246 TRNAU1AP Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 289255 chr1 11190718 11190718 G A rs769197073 MTOR Synonymous SNV N1827N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.121 289256 chr1 31769560 31769560 C G rs3737752 SNRNP40 Synonymous SNV P13P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 289257 chr1 33794634 33794634 G C rs376869490 PHC2 Nonsynonymous SNV I218M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 289258 chr1 14109084 14109084 T G rs147431796 PRDM2 Nonsynonymous SNV N1397K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.22 289259 chr1 3391324 3391324 G A rs138805620 ARHGEF16 Nonsynonymous SNV R453H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 289260 chr17 3912187 3912187 C G ZZEF1 Nonsynonymous SNV C2932S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 289261 chr1 40366563 40366563 G A MYCL Nonsynonymous SNV P212S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 289262 chr12 124387620 124387620 G A rs762842800 DNAH10 Nonsynonymous SNV E3141K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 289263 chr11 65340247 65340247 G A FAM89B Nonsynonymous SNV G36D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 289264 chr1 22175453 22175453 G A rs775130709 HSPG2 Synonymous SNV V2507V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.5 289265 chr1 52518164 52518164 A G rs12047841 TXNDC12-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.142 289266 chr13 25745321 25745321 C T AMER2 Nonsynonymous SNV G146E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 289267 chr11 6942456 6942456 T C OR2D3 Nonsynonymous SNV M75T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 289268 chr1 57411669 57411669 G A rs141429572 C8B Synonymous SNV S310S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 289269 chr1 5964791 5964791 G A rs547495754 NPHP4 Nonsynonymous SNV P165S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.7 289270 chr1 934907 934907 C A rs755263378 HES4 Synonymous SNV T123T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 289271 chr1 983404 983404 C T rs137965991 AGRN Nonsynonymous SNV A1255V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.99 289272 chr13 35733539 35733539 A C rs17051891 NBEA Synonymous SNV S1077S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 289273 chr1 32140895 32140895 G A rs187770784 COL16A1 Synonymous SNV N930N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 289274 chr1 163131564 163131564 C - LOC101928404 0 0.003 0 0 0 1 0 0 0 0 0 0 289275 chr9 113637727 113637727 G A LPAR1 Nonsynonymous SNV H357Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 289276 chr17 15848897 15848897 G A ADORA2B Nonsynonymous SNV R112K 0 0 0 2 0 0 0.005 0 0 0 0 0 19.36 289277 chr1 84991664 84991664 T G rs759558649 SPATA1 Nonsynonymous SNV I151S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.185 289278 chr1 161008366 161008366 G A TSTD1 Synonymous SNV T36T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 289279 chr11 3877614 3877614 C G rs150033189 STIM1 Synonymous SNV A38A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.703 289280 chr17 17997194 17997194 G A rs201335147 DRG2 Synonymous SNV P44P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.707 289281 chr1 43396813 43396813 G A rs142986731 SLC2A1 Nonsynonymous SNV T60M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.4 289282 chr1 9323782 9323782 T G rs774793481 H6PD Synonymous SNV P421P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 289283 chr1 12343328 12343328 G T VPS13D Synonymous SNV R1723R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.855 289284 chr1 981353 981353 C T rs116836855 AGRN Nonsynonymous SNV A897V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 289285 chr1 47746430 47746430 G A STIL Nonsynonymous SNV P567L 0 0 0 1 0 0 0.003 0 0 0 0 0 28 289286 chr1 48697657 48697657 G A rs755516006 SLC5A9 Nonsynonymous SNV R244Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 289287 chr13 109793018 109793018 G A rs748254706 MYO16 Synonymous SNV P1486P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.702 289288 chr1 52889660 52889660 G A rs762197385 TUT4 Nonsynonymous SNV R1629C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 289289 chr1 53580635 53580635 C T rs146594134 SLC1A7 Nonsynonymous SNV G76R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 289290 chr1 184787858 184787858 T C NIBAN1 Nonsynonymous SNV S363G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.99 289291 chr1 202128421 202128421 C T rs115136927 PTPN7 Nonsynonymous SNV R37Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 289292 chr12 109221060 109221060 G A SSH1 Nonsynonymous SNV P41L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 289293 chr20 30370148 30370148 A G rs748335606 TPX2 Nonsynonymous SNV K384R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 289294 chr20 31389142 31389142 G A rs144497819 DNMT3B Synonymous SNV K589K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.8 289295 chr14 23374209 23374209 G C rs369539379 RBM23 Nonsynonymous SNV R213G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 289296 chr1 26150160 26150160 C T rs199996657 MTFR1L Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 289297 chr20 34117015 34117015 C T rs148026936 C20orf173 Nonsynonymous SNV C63Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 289298 chr20 34572606 34572606 A G rs6142471 CNBD2 Nonsynonymous SNV T208A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 289299 chr9 139100754 139100754 G A rs148681480 QSOX2 Synonymous SNV P639P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.887 289300 chr1 216850644 216850644 T C rs763979655 ESRRG Synonymous SNV P59P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.403 289301 chr20 4229218 4229218 G A rs3803964 ADRA1D Synonymous SNV T129T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.656 289302 chr1 107600316 107600316 G A rs200568588 PRMT6 Nonsynonymous SNV E327K 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 289303 chr1 33292106 33292106 C T rs146546920 S100PBP Nonsynonymous SNV R136C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 289304 chr17 42982046 42982046 T C rs376176156 FAM187A Synonymous SNV H283H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.017 289305 chr20 45938875 45938875 C T rs550379713 ZMYND8 Synonymous SNV S53S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 289306 chr17 43246396 43246396 G C rs777629298 HEXIM2 Synonymous SNV P49P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.973 289307 chr20 47740953 47740953 C A rs530251447 STAU1 Nonsynonymous SNV V186L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.07 289308 chr20 49225479 49225479 G T rs149203288 RIPOR3 Stop gain Y218X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 289309 chr20 49510604 49510604 C T rs770725626 ADNP Nonsynonymous SNV R216Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 289310 chr14 53133135 53133135 G A rs367582288 ERO1A Nonsynonymous SNV A196V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 289311 chr14 53217423 53217423 G C rs530883472 STYX Nonsynonymous SNV G56A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 289312 chr14 53217463 53217463 A C rs552155266 STYX Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.987 289313 chr14 55169280 55169280 G A rs201482871 SAMD4A Nonsynonymous SNV G233R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 289314 chr12 13243548 13243548 A G GSG1 Nonsynonymous SNV S85P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.4 289315 chr1 228509780 228509780 G A rs759239651 OBSCN Nonsynonymous SNV A5080T 0.001 0 0 0 1 0 0 0 0 0 0 0 12 289316 chr9 26892504 26892504 G A rs755808744 CAAP1 Synonymous SNV G70G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 289317 chr1 118584469 118584469 G A SPAG17 Nonsynonymous SNV T1004I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 289318 chr20 60881351 60881351 C T rs372636194 ADRM1 Synonymous SNV S104S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 289319 chr9 34255105 34255105 T C KIF24 Nonsynonymous SNV K1311E 0.001 0 0 0 1 0 0 0 0 0 0 0 24 289320 chr12 18243056 18243056 C A RERGL Nonsynonymous SNV A7S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 289321 chr1 53676924 53676924 T C rs113493395 CPT2, CPT2 Synonymous SNV G526G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.007 289322 chr20 62839378 62839416 GAGGAAGAGGAAGAGGAGGAGGAAGAGGAAGAGGAGGAG - MYT1 E294_E306del 0 0 0.003 0 0 0 0 1 0 0 0 0 289323 chr14 77310784 77310784 A C rs775603329 LRRC74A Nonsynonymous SNV D205A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.32 289324 chr21 31747671 31747671 G A rs150625541 MIR4327 0 0 0.003 0 0 0 0 1 0 0 0 0 1.701 289325 chr12 44238662 44238662 C T TMEM117 Nonsynonymous SNV L70F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 289326 chr12 4777632 4777632 G A rs375511497 NDUFA9 Nonsynonymous SNV R222Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.095 289327 chr11 60615445 60615445 G A rs61743923 CCDC86 Synonymous SNV R269R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 289328 chr21 37618626 37618626 G T rs144597744 DOP1B Nonsynonymous SNV V1450F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 289329 chr21 37649359 37649359 G A rs532590294 DOP1B Synonymous SNV P1891P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 289330 chr1 158669788 158669788 A G OR6K2 Nonsynonymous SNV Y219H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 289331 chr14 91766411 91766411 G A rs546232280 CCDC88C Synonymous SNV H1213H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.782 289332 chr14 91779700 91779700 C T rs764596290 CCDC88C Synonymous SNV R820R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 289333 chr14 92470328 92470328 C G TRIP11 Nonsynonymous SNV R1330T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 289334 chr14 94053244 94053244 T C UNC79 Synonymous SNV L1008L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 289335 chr1 89734413 89734413 T G rs747563786 GBP5 Nonsynonymous SNV K106T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 289336 chr11 62038448 62038448 G A rs146064984 SCGB2A2 Nonsynonymous SNV D51N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 289337 chr14 96730455 96730455 C T rs141183305 BDKRB1 Nonsynonymous SNV R146W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 289338 chr1 165859496 165859496 G A rs756183550 UCK2 Nonsynonymous SNV R52H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.13 289339 chr21 45389031 45389031 C G rs79309256 AGPAT3 Synonymous SNV L127L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 289340 chr21 45535248 45535248 G C LOC102724159, PWP2 Nonsynonymous SNV V192L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 289341 chr14 100615944 100615944 G A rs762724050 DEGS2 Synonymous SNV R62R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.92 289342 chr21 45738399 45738399 C T rs368709851 PFKL Nonsynonymous SNV T328M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.3 289343 chr21 46842492 46842492 G A rs79087200 COL18A1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.081 289344 chr11 64417924 64417924 G C rs901270769 NRXN2 Synonymous SNV L995L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.901 289345 chr11 64678715 64678715 T C rs766556517 ATG2A Nonsynonymous SNV M421V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.168 289346 chr1 173551052 173551052 C T rs4916373 SLC9C2 Nonsynonymous SNV V246I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.061 289347 chr1 173886381 173886381 A G rs753713846 SERPINC1 Nonsynonymous SNV I6T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 289348 chr1 173934122 173934122 G T rs773365344 RC3H1 Nonsynonymous SNV P491T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 289349 chr21 47703734 47703734 G A rs17182566 MCM3AP Nonsynonymous SNV P413L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 289350 chr1 176525591 176525591 T A rs200341452 PAPPA2 Nonsynonymous SNV L45M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.184 289351 chr21 47836411 47836411 G A rs150756913 PCNT Synonymous SNV P2075P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.426 289352 chr1 177225096 177225096 G A rs370977427 BRINP2 Nonsynonymous SNV R104K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 289353 chrX 152663541 152663541 G C PNMA6E Nonsynonymous SNV A256G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 289354 chrX 152663557 152663557 T C rs868913407 PNMA6E Nonsynonymous SNV R251G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 289355 chrX 152663559 152663559 C G rs868939854 PNMA6E Nonsynonymous SNV G250A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 289356 chr22 18300086 18300086 C T rs777621120 MICAL3 Nonsynonymous SNV V1781I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.509 289357 chr22 19435214 19435214 C G rs376718511 C22orf39 Nonsynonymous SNV D37H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 289358 chr18 5416112 5416112 T C rs147018763 EPB41L3 Nonsynonymous SNV Q591R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 289359 chr15 29418525 29418525 G A rs565938145 FAM189A1 Synonymous SNV P391P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.023 289360 chr1 183617049 183617049 G A rs761532049 APOBEC4 Nonsynonymous SNV P290S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 289361 chr12 6442653 6442653 T C TNFRSF1A Nonsynonymous SNV T10A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 289362 chr11 68201158 68201158 C T rs144115017 LRP5 Synonymous SNV P703P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.43 289363 chr22 24238243 24238243 C G rs572912997 MIF-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.184 289364 chr22 24981923 24981923 G A rs773028516 LRRC75B Synonymous SNV T293T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.324 289365 chr22 25150026 25150026 C T rs199974131 PIWIL3 Nonsynonymous SNV R311Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.765 289366 chr22 25294331 25294331 C T rs776370305 SGSM1 Synonymous SNV A744A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 289367 chrX 48931486 48931486 A T PRAF2 Nonsynonymous SNV I54N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 289368 chr1 151150560 151150560 G A rs144082612 VPS72 Synonymous SNV P208P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 289369 chr1 151260241 151260241 C T rs371171135 ZNF687 Nonsynonymous SNV R492W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 289370 chr22 27019197 27019197 G C rs142090709 CRYBA4 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 289371 chr18 21229091 21229091 G A ANKRD29 Synonymous SNV L30L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 289372 chr22 29445985 29445985 C T rs557827738 ZNRF3 Nonsynonymous SNV R606C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 289373 chr15 41796779 41796779 C T rs199935291 LTK Nonsynonymous SNV R597H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 289374 chr11 73073715 73073715 G T rs138108633 ARHGEF17 Synonymous SNV S1644S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.51 289375 chrX 62898400 62898400 C T ARHGEF9 Nonsynonymous SNV C152Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 289376 chr22 30770404 30770404 T C rs765457997 KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 2.772 289377 chr22 32007137 32007137 C T rs145181683 SFI1 Nonsynonymous SNV R700W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 289378 chr22 37962781 37962781 G A rs147161865 CDC42EP1 Nonsynonymous SNV S142N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 289379 chr1 207195498 207195498 T C rs529387829 C1orf116 Synonymous SNV K291K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.279 289380 chr15 48782178 48782178 G A rs374670384 FBN1 Synonymous SNV V984V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.224 289381 chr15 50836939 50836939 - AG USP50 Frameshift insertion K31Nfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 289382 chr15 50836942 50836942 A T USP50 Synonymous SNV V30V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 289383 chr12 98926722 98926722 C T TMPO Synonymous SNV T229T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 289384 chr1 216692556 216692556 T C ESRRG Nonsynonymous SNV K106R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.35 289385 chr22 47311769 47311769 G A rs137860428 TBC1D22A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.01 289386 chr22 50703883 50703883 G A rs764911184 MAPK11 Synonymous SNV D294D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 289387 chr12 101711309 101711309 G A rs150773203 UTP20 Nonsynonymous SNV R869K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.044 289388 chr15 67664545 67664545 T A rs771201293 IQCH Nonsynonymous SNV F32I 0.002 0 0 0 2 0 0 0 0 0 0 0 25 289389 chr22 51143454 51143454 T C rs747708688 SHANK3 Synonymous SNV G639G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.558 289390 chr1 228404818 228404818 G A OBSCN Nonsynonymous SNV V828M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 289391 chr12 105151008 105151008 G C rs757358769 CHST11 Nonsynonymous SNV K157N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 289392 chr12 105151191 105151191 C T rs781426215 CHST11 Synonymous SNV N218N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 289393 chr15 72105883 72105883 G A rs375364175 NR2E3 Nonsynonymous SNV R301H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 289394 chr1 228487003 228487003 C G OBSCN Synonymous SNV A4418A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.402 289395 chr15 73615926 73615926 C T rs766293595 HCN4 Synonymous SNV A836A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.81 289396 chr1 233489606 233489606 T C rs142222347 MAP3K21 Nonsynonymous SNV I347T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 289397 chr15 78882726 78882726 C T rs61740655 CHRNA5 Synonymous SNV T331T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.43 289398 chr15 81624839 81624839 C T TMC3 Nonsynonymous SNV G1075D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 289399 chr19 1528071 1528071 G A PLK5 Nonsynonymous SNV A47T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 289400 chr15 83932960 83932960 T C rs142462257 BNC1 Nonsynonymous SNV N341S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 289401 chr19 2936622 2936622 T C rs747168418 ZNF77 Nonsynonymous SNV I71V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 289402 chr2 147346154 147346154 A C rs75392513 PABPC1P2 0 0 0.003 0 0 0 0 1 0 0 0 0 2.64 289403 chr1 247109121 247109121 G A rs185082300 ZNF695 Nonsynonymous SNV S166L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.029 289404 chr2 182780341 182780341 C A ITPRID2 Synonymous SNV T505T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 289405 chr19 4294603 4294603 G T TMIGD2 Nonsynonymous SNV R55S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.75 289406 chr12 122985336 122985336 G T rs994566329 ZCCHC8 Nonsynonymous SNV H18N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.89 289407 chr12 123706092 123706092 C T rs766820989 MPHOSPH9 Synonymous SNV A233A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.648 289408 chr1 26581997 26581997 C T CEP85 Nonsynonymous SNV P131S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 289409 chr15 93198727 93198727 T G rs754447692 FAM174B Nonsynonymous SNV T55P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 289410 chr2 171570431 171570452 TTCCCCGCCCGCCTCTTCCTCC - rs527678103 LINC01124 0 0 0.007 0 0 0 0 2 0 0 0 0 289411 chr1 27426923 27426923 C G rs773456313 SLC9A1 Nonsynonymous SNV D775H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 289412 chr19 5456411 5456411 G A rs751219709 ZNRF4 Synonymous SNV T303T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.407 289413 chr1 28858715 28858715 C T RCC1 Synonymous SNV A98A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 289414 chr1 29362341 29362341 G A rs761433669 EPB41 Nonsynonymous SNV E422K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 289415 chr2 177465742 177465742 G A rs757517104 MIR1246 0 0 0.003 0 0 0 0 1 0 0 0 0 3.57 289416 chr19 6040085 6040085 G C RFX2 Nonsynonymous SNV P143R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.94 289417 chr12 131590401 131590401 G A ADGRD1 Synonymous SNV E626E 0 0.003 0 0 0 1 0 0 0 0 0 0 1.168 289418 chr2 179408776 179408776 A G TTN Nonsynonymous SNV L22967S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 289419 chr2 179410553 179410553 A G rs773485516 TTN Nonsynonymous SNV S22739P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 289420 chr1 29630460 29630460 C T rs146215972 PTPRU Nonsynonymous SNV T857M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 289421 chr2 179515989 179515989 T C rs372356060 TTN Synonymous SNV P10768P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.46 289422 chr2 10016082 10016082 A T rs748072941 TAF1B Synonymous SNV T214T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 289423 chr14 105848371 105848371 G T PACS2 Synonymous SNV R463R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.251 289424 chr2 15359094 15359094 T C NBAS 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 289425 chr1 36505997 36505997 G A rs368356934 AGO3 Synonymous SNV Q475Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.016 289426 chr2 186664777 186664777 A G FSIP2 Nonsynonymous SNV M3582V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 289427 chr1 38040372 38040372 T G GNL2 Nonsynonymous SNV E216A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 289428 chr2 196851900 196851900 C T rs202188720 DNAH7 Nonsynonymous SNV M548I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 289429 chr2 219603567 219603567 C G TTLL4 Nonsynonymous SNV Q390E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 289430 chr16 1826219 1826219 C T EME2 Synonymous SNV L374L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.649 289431 chr2 220097265 220097265 G A rs757997113 ANKZF1 Nonsynonymous SNV D140N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.9 289432 chr16 1968075 1968075 C G HS3ST6 Nonsynonymous SNV G84R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 289433 chr14 23523481 23523481 G A rs921516640 CDH24 Nonsynonymous SNV L281F 0.001 0 0 0 1 0 0 0 0 0 0 0 25 289434 chr16 2111895 2111895 G A rs45517155 TSC2 Synonymous SNV R181R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.692 289435 chr16 2133727 2133727 G A rs11551373 TSC2 Synonymous SNV P1061P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.241 289436 chr1 236702353 236702353 T G rs774119390 LGALS8 Nonsynonymous SNV F103L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.1 289437 chr2 21229445 21229445 T C rs759043889 APOB Nonsynonymous SNV Q3432R 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 8.773 289438 chr2 21252534 21252534 G A rs13306194 APOB Nonsynonymous SNV R532W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.4 289439 chr16 3614207 3614207 G A rs762801490 NLRC3 Nonsynonymous SNV P244L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 289440 chr1 47078823 47078823 G T MOB3C Nonsynonymous SNV D109E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 289441 chr2 218712513 218712513 C T rs200412682 TNS1 Synonymous SNV L784L 0 0 0.007 0 0 0 0 2 0 0 1 0 0.572 289442 chr2 45879449 45879449 C T rs2230498 PRKCE Synonymous SNV V70V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 289443 chr12 43833518 43833518 G T rs148696894 ADAMTS20 Nonsynonymous SNV H834N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.41 289444 chr2 48915911 48915911 C T rs149957775 LHCGR Nonsynonymous SNV R342Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.57 289445 chr2 220421176 220421176 C A OBSL1 Stop gain E1446X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 289446 chr1 60073568 60073568 G A rs778553524 FGGY Nonsynonymous SNV V34I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 289447 chr1 63282458 63282458 A C rs779216571 ATG4C Nonsynonymous SNV I125L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.344 289448 chr1 63999223 63999223 C T rs12041368 EFCAB7 Synonymous SNV N195N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 289449 chr1 65157139 65157139 A G rs754816136 CACHD1 Synonymous SNV L944L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 289450 chr19 12244239 12244239 G A rs368309665 ZNF20 Synonymous SNV A251A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.215 289451 chr2 73957142 73957142 A G TPRKB Synonymous SNV S152S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.421 289452 chr2 85532411 85532411 A G rs199958101 TCF7L1 Nonsynonymous SNV M292V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.977 289453 chr12 52942008 52942008 G A rs148559240 KRT71 Synonymous SNV D302D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.715 289454 chr2 238451282 238451282 C T rs143701698 MLPH Nonsynonymous SNV R387W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 289455 chr1 85462511 85462511 C T rs138052421 MCOLN2 Synonymous SNV E15E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.29 289456 chr16 29708430 29708430 G A QPRT Synonymous SNV L76L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.6 289457 chr2 240111652 240111652 C T rs148379467 HDAC4 Synonymous SNV Q72Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 289458 chr16 30020565 30020565 G A rs377241271 DOC2A Synonymous SNV A125A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 289459 chr2 95815307 95815307 C T rs754599113 ZNF514 Nonsynonymous SNV R381K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 289460 chr3 12778318 12778318 G A rs759003406 TMEM40 Synonymous SNV F87F 0 0.003 0 0 0 1 0 0 0 0 0 0 15.93 289461 chr2 241534002 241534002 G T rs144696781 CAPN10 Nonsynonymous SNV E291D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.054 289462 chr1 91851388 91851388 T C rs889461886 HFM1 Synonymous SNV L166L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.233 289463 chr2 99980250 99980250 A G rs1048072889 EIF5B Synonymous SNV E354E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.272 289464 chr1 92200382 92200382 T C rs2306888 TGFBR3 Synonymous SNV S173S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.163 289465 chr16 31288016 31288016 C A rs745610582 ITGAM Nonsynonymous SNV S345Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 289466 chr16 55905560 55905560 C T rs143198507 CES5A Nonsynonymous SNV A132T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 289467 chr16 55905571 55905571 G T rs148234688 CES5A Nonsynonymous SNV A128E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.1 289468 chr16 55905615 55905615 C T rs80178015 CES5A Synonymous SNV P113P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.58 289469 chr16 56226598 56226598 C T rs148968256 DKFZP434H168 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 289470 chr2 102988460 102988460 A G rs201204631 IL18R1 Nonsynonymous SNV H117R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.347 289471 chr12 55968811 55968811 C T rs751259764 OR2AP1 Synonymous SNV L205L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.972 289472 chr2 27317468 27317468 A G KHK Synonymous SNV L111L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.076 289473 chr3 42201869 42201869 A G rs765400946 TRAK1 Nonsynonymous SNV K6E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.701 289474 chr12 58015060 58015060 G A rs774920760 SLC26A10 Synonymous SNV V135V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 289475 chr12 58166673 58166673 G C EEF1AKMT3 Nonsynonymous SNV V56L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 289476 chr2 38960642 38960642 C G rs140271694 GALM Nonsynonymous SNV P322A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 289477 chr1 114483599 114483599 G A HIPK1 Synonymous SNV R198R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.251 289478 chr2 125547516 125547516 C T rs370802996 CNTNAP5 Synonymous SNV C930C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 289479 chr2 43801896 43801896 G C THADA Nonsynonymous SNV F436L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 289480 chr2 43927591 43927591 A C PLEKHH2 Nonsynonymous SNV E498D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 289481 chr2 44073413 44073413 G C rs771060960 ABCG8 Synonymous SNV V95V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.133 289482 chr2 44550432 44550432 C A rs375292548 PREPL Nonsynonymous SNV R560L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.6 289483 chr2 131520158 131520158 T C rs370256234 AMER3 Synonymous SNV T171T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 289484 chr19 19654767 19654767 T A rs372842557 CILP2 Synonymous SNV P471P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.097 289485 chr12 69128565 69128565 A C rs138677880 NUP107 Synonymous SNV P751P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 289486 chr2 53927581 53927581 G A rs372080288 ASB3, GPR75-ASB3 Synonymous SNV Y282Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.771 289487 chr2 54127077 54127077 G A rs368543416 PSME4 Synonymous SNV S1121S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 289488 chr2 54159106 54159106 T C rs200354216 PSME4 Synonymous SNV T394T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.079 289489 chr2 61510334 61510334 A G rs372264590 USP34 Synonymous SNV A1648A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 289490 chr12 72026079 72026079 T C ZFC3H1 Synonymous SNV Q1011Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 289491 chr2 64148415 64148415 A G rs141429000 VPS54 Synonymous SNV N586N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.764 289492 chr12 76816339 76816339 G A rs757797631 OSBPL8 Nonsynonymous SNV R32W 0 0.003 0 0 0 1 0 0 0 0 0 0 17.35 289493 chr12 8211677 8211677 C T rs749041687 C3AR1 Nonsynonymous SNV A369T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.964 289494 chr2 73315478 73315478 T G rs369090487 RAB11FIP5 Nonsynonymous SNV E423A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.662 289495 chr2 165383626 165383626 G A rs146445796 GRB14 Synonymous SNV H80H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.701 289496 chr2 73339870 73339870 C A rs372652463 RAB11FIP5 Synonymous SNV G12G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 289497 chr2 73496097 73496097 C A rs568956059 FBXO41 Nonsynonymous SNV R221L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 289498 chr2 166847972 166847972 G A rs915676341 SCN1A Nonsynonymous SNV A1938V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.4 289499 chr12 89919890 89919890 G A rs959525178 POC1B-GALNT4 Nonsynonymous SNV R15C 0 0.003 0 0 0 1 0 0 0 0 0 0 8.544 289500 chr2 74531686 74531686 C T rs746344178 SLC4A5 Synonymous SNV Q67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.974 289501 chr12 9305514 9305514 C A rs750983320 PZP Stop gain E1343X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 289502 chr1 154223544 154223544 T C rs149365430 UBAP2L Nonsynonymous SNV V414A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 289503 chr16 86602272 86602272 A G rs147258453 FOXC2 Nonsynonymous SNV Q444R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 289504 chr2 9531234 9531234 T C ASAP2 Synonymous SNV S809S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.97 289505 chr2 179483343 179483343 T A TTN Nonsynonymous SNV K6580I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 289506 chr2 98354495 98354495 A C ZAP70 Nonsynonymous SNV Q247P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 289507 chr2 179616466 179616466 G A TTN Nonsynonymous SNV A3554V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 289508 chr1 156893759 156893759 G C rs755693412 LRRC71 Nonsynonymous SNV G60A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 289509 chr1 157667564 157667564 C G FCRL3 Nonsynonymous SNV K148N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 289510 chr3 109056360 109056360 A C rs768451373 DPPA4 Nonsynonymous SNV L2W 0 0 0.003 0 0 0 0 1 0 0 0 0 9.627 289511 chr13 111144465 111144465 G A rs369072485 COL4A2 Nonsynonymous SNV R1168Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 289512 chr3 111705192 111705192 T C rs146070681 ABHD10 Synonymous SNV S136S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.374 289513 chr2 186654310 186654310 T C FSIP2 Nonsynonymous SNV M816T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 289514 chr3 108301856 108301856 G A rs779731478 CIP2A Nonsynonymous SNV R109W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 289515 chr3 112545876 112545876 T A rs377219496 CD200R1L Nonsynonymous SNV T215S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 289516 chr16 89346825 89346825 T C rs534182728 ANKRD11 Nonsynonymous SNV D2042G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.089 289517 chr2 113416664 113416664 C T rs377435059 SLC20A1 Synonymous SNV T347T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 289518 chr2 118753908 118753908 C T CCDC93 Nonsynonymous SNV E132K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 289519 chr1 160064747 160064747 C T IGSF8 Synonymous SNV Q118Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 289520 chr13 23898590 23898590 C T rs759316719 SGCG Synonymous SNV Y262Y 0 0.003 0 0 0 1 0 0 0 0 0 0 9.022 289521 chr19 44096571 44096571 C T IRGQ Synonymous SNV A493A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.41 289522 chr3 121258342 121258342 G A rs763475027 POLQ Nonsynonymous SNV T190I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 289523 chr3 121415611 121415611 G A rs758340639 GOLGB1 Synonymous SNV L1173L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 289524 chr1 166890391 166890391 A G rs751102728 ILDR2 Synonymous SNV G479G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.485 289525 chr15 67664613 67664613 G C IQCH Nonsynonymous SNV E54D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 289526 chr13 36158171 36158171 G A rs750521442 NBEA Nonsynonymous SNV R184Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 289527 chr1 172001635 172001635 G A rs371154105 DNM3 Nonsynonymous SNV R228H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 289528 chr3 128588515 128588515 T C rs62274471 LOC653712 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 289529 chr3 128781048 128781048 G A rs3796130 GP9 Nonsynonymous SNV A156T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.32 289530 chr3 129130046 129130046 C T rs369876229 EFCAB12 Nonsynonymous SNV M330I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 289531 chr17 4619828 4619828 A T rs760582195 ARRB2 Synonymous SNV P79P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.067 289532 chr13 46544565 46544565 C A ZC3H13 Nonsynonymous SNV R835I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 289533 chr3 130159036 130159036 C T rs376108585 COL6A5 Stop gain R1952X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 289534 chr17 4937888 4937888 G C rs755105402 SLC52A1 Nonsynonymous SNV T5R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 289535 chr3 134089763 134089763 G A rs780228246 AMOTL2 Synonymous SNV G229G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.028 289536 chr2 220083056 220083056 C A rs200651419 ABCB6 Stop gain E114X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 289537 chr2 179400842 179400842 C T rs764687906 TTN Synonymous SNV R24479R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.67 289538 chr2 179415722 179415722 A T rs769873625 TTN Synonymous SNV S21447S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.36 289539 chr3 14523318 14523318 G A SLC6A6 Nonsynonymous SNV R564H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 289540 chr3 150873978 150873978 G A rs571847223 MED12L Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 289541 chr3 150876508 150876508 A G rs189096904 MED12L Synonymous SNV T253T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.52 289542 chr2 224746757 224746757 G A rs766005412 WDFY1 Synonymous SNV C322C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.25 289543 chr3 154055990 154055990 C T rs201763792 GPR149 Nonsynonymous SNV G565E 0.003 0 0 1 3 0 0.003 0 0 0 0 0 29.5 289544 chr3 155199652 155199652 A G rs377640679 PLCH1 Nonsynonymous SNV V1388A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 289545 chr3 158320634 158320634 G A MLF1 Nonsynonymous SNV V158I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 289546 chr1 201194980 201194980 C T rs758093733 IGFN1 Synonymous SNV H3505H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.696 289547 chr2 186656097 186656097 C T rs759184688 FSIP2 Nonsynonymous SNV P1412S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 289548 chr3 165547623 165547623 T C BCHE Nonsynonymous SNV H400R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.15 289549 chr1 201617853 201617853 C A rs571656889 NAV1 Synonymous SNV G19G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 19.44 289550 chr1 201749645 201749645 C T rs114871093 NAV1 Synonymous SNV L50L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 289551 chr2 238261169 238261169 G A rs140728855 COL6A3 Nonsynonymous SNV P1643L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.3 289552 chr17 11603090 11603090 A T DNAH9 Nonsynonymous SNV M1639L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.514 289553 chr3 189038562 189038562 C T rs192309371 TPRG1 Nonsynonymous SNV R261C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 289554 chr16 1515308 1515308 T C rs538485246 CLCN7 Nonsynonymous SNV H58R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 289555 chr14 23374320 23374320 T C rs753063318 RBM23 Nonsynonymous SNV I203V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.73 289556 chr2 220334090 220334090 G A rs769359524 SPEG Nonsynonymous SNV R1235H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 289557 chr14 23548998 23548998 C A ACIN1 Nonsynonymous SNV A534S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 289558 chr14 23586984 23586984 C T rs372854243 CEBPE Synonymous SNV A186A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.57 289559 chr3 36931356 36931356 C T rs536532005 TRANK1 Nonsynonymous SNV V247I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 289560 chr3 37292896 37292896 A G rs189717160 GOLGA4 Nonsynonymous SNV N28S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.655 289561 chr3 38138709 38138709 - G DLEC1 Frameshift insertion K795Efs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 289562 chr3 39450191 39450191 T C rs577387094 RPSA Synonymous SNV V76V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 289563 chr3 13669348 13669348 G A rs750434002 FBLN2 Synonymous SNV A769A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.478 289564 chr1 230807349 230807349 C T rs372883522 COG2 Nonsynonymous SNV R288C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 289565 chr3 27216243 27216243 G C NEK10 Nonsynonymous SNV L175V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.01 289566 chr3 47046991 47046991 C T rs770917376 NBEAL2 Synonymous SNV S2157S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 289567 chr3 32200490 32200490 C A rs987196358 GPD1L Synonymous SNV G247G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.31 289568 chr3 37067225 37067225 A G rs143009528 MLH1 Nonsynonymous SNV Y21C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 24.9 289569 chr3 38058197 38058197 G T rs369220656 PLCD1 Nonsynonymous SNV D92E 0 0 0 1 0 0 0.003 0 0 0 0 0 19.51 289570 chr14 55609355 55609355 G A rs201865041 LGALS3 Nonsynonymous SNV R162H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 289571 chr1 245250639 245250639 A G EFCAB2 Nonsynonymous SNV M166V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 289572 chr3 50005255 50005255 A G rs778277055 RBM6 Nonsynonymous SNV M133V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.459 289573 chr14 60433318 60433318 G A LRRC9 Nonsynonymous SNV C408Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 289574 chr3 39225635 39225635 C T rs111243567 XIRP1 Nonsynonymous SNV V451M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.9 289575 chr19 58772737 58772737 C T rs372977884 ZNF544 Synonymous SNV S227S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 9.894 289576 chr1 248084324 248084324 A T rs144267169 OR2T8 Nonsynonymous SNV E2V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 289577 chr4 41633217 41633217 G T rs556779868 LIMCH1 Nonsynonymous SNV A442S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.806 289578 chr4 44450062 44450062 C A rs769825135 KCTD8 Nonsynonymous SNV G160V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 289579 chr16 57789934 57789934 C T rs200775005 KATNB1 Synonymous SNV T558T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 289580 chr3 46574325 46574325 A - rs765842494 LRRC2 C189Vfs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 289581 chr2 1500392 1500392 C T rs373350060 TPO Synonymous SNV S574S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.89 289582 chr3 47618762 47618762 - AAGCAGGCTCCAGGAAGGGGTCTCTA CSPG5 Stop gain D114* 0 0 0 1 0 0 0.003 0 0 0 0 0 289583 chr14 75538199 75538199 G A rs749730353 ZC2HC1C Nonsynonymous SNV R308Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 289584 chr3 49322013 49322013 T C USP4 Nonsynonymous SNV Y712C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 289585 chr20 2635158 2635158 G A rs781343694 NOP56 Nonsynonymous SNV A103T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 289586 chr17 39994186 39994186 T G KLHL10 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 289587 chr3 9953258 9953258 C T rs9870003 IL17RE Nonsynonymous SNV P286S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.725 289588 chr17 40042433 40042433 G A rs374050031 ACLY Synonymous SNV N712N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 289589 chr3 9959410 9959410 G A rs75324888 IL17RC Nonsynonymous SNV R40H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.74 289590 chr17 40344535 40344535 C T rs148046976 GHDC Nonsynonymous SNV E205K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 289591 chr3 51812791 51812791 C T rs146499863 IQCF6 Nonsynonymous SNV A58T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 289592 chr4 106580521 106580521 C A rs936653796 ARHGEF38 Nonsynonymous SNV P515Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 289593 chr3 56716720 56716720 C T TASOR Synonymous SNV K105K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.5 289594 chr3 56763584 56763584 T C rs45465492 ARHGEF3 Nonsynonymous SNV N438S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.23 289595 chr3 58112478 58112478 C A FLNB Nonsynonymous SNV A1404D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 289596 chr3 63824145 63824145 C T rs200135935 THOC7 Synonymous SNV T4T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.95 289597 chr4 87679838 87679838 A G rs188031560 PTPN13 Synonymous SNV Q916Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.232 289598 chr14 95235490 95235490 G A rs144777037 GSC Synonymous SNV N140N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.95 289599 chr4 128626928 128626928 G A rs201612700 INTU Synonymous SNV P583P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.491 289600 chr17 48545741 48545741 G C CHAD Nonsynonymous SNV P145R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 289601 chr2 27730169 27730169 - A rs573498430 GCKR Frameshift insertion T379Nfs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 289602 chr3 99513525 99513525 C T rs775370460 COL8A1 Synonymous SNV H260H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 289603 chr20 25457272 25457272 T G NINL Synonymous SNV T885T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.814 289604 chr4 139965859 139965859 A G rs150676868 NOCT Nonsynonymous SNV K176R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.53 289605 chr20 31434540 31434540 A G rs142905797 MAPRE1 Synonymous SNV V238V 0 0 0 2 0 0 0.005 0 0 0 0 0 13.27 289606 chr4 144438567 144438567 C T rs753445235 SMARCA5 Synonymous SNV T79T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 289607 chr15 31233828 31233828 C T rs192270290 MTMR10 Nonsynonymous SNV D727N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 289608 chr16 84224988 84224988 C G ADAD2 Nonsynonymous SNV T51R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 289609 chr3 46400016 46400025 CAGTTTTCTA - CCR2 V334Gfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 289610 chr15 34123270 34123270 A G rs776225973 RYR3 Nonsynonymous SNV N3809S 0 0.005 0 0 0 2 0 0 0 0 0 0 Uncertain significance 24.4 289611 chr2 43458291 43458293 GAA - rs544375407 THADA F1886del 0.001 0 0 0 1 0 0 0 0 0 0 0 289612 chr4 169341494 169341494 C T rs747532164 DDX60L Nonsynonymous SNV R811H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 289613 chr3 115439697 115439697 G T rs199629932 GAP43 Stop gain E229X 0 0 0 1 0 0 0.003 0 0 0 0 0 46 289614 chr17 71196791 71196791 T C rs200459268 COG1 Nonsynonymous SNV M386T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.84 289615 chr4 183600921 183600921 C T rs563892336 TENM3 Nonsynonymous SNV L477F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 289616 chr4 183814261 183814261 G A rs763330287 DCTD Synonymous SNV F138F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 289617 chr4 184175010 184175010 G C rs536433411 WWC2 Nonsynonymous SNV E352Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 289618 chr15 42149486 42149486 G A rs761987876 SPTBN5 Synonymous SNV G2857G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.727 289619 chr15 43026429 43026429 C T CDAN1 Nonsynonymous SNV A418T 0 0.003 0 0 0 1 0 0 0 0 0 0 27 289620 chr15 45408399 45408399 G C DUOXA2 Nonsynonymous SNV V95L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.61 289621 chr4 20541070 20541070 G C SLIT2 Nonsynonymous SNV L609F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 289622 chr4 20597425 20597425 C T rs139127730 SLIT2 Synonymous SNV N1092N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.96 289623 chr17 74005655 74005655 T C rs759928902 EVPL Nonsynonymous SNV T1233A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 289624 chr4 2833348 2833348 C T rs754582989 SH3BP2 Nonsynonymous SNV P431L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 289625 chr17 74274254 74274254 C T rs564093264 QRICH2 Nonsynonymous SNV A1479T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 289626 chr15 51743844 51743844 T C rs373899284 DMXL2 Nonsynonymous SNV H2258R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 289627 chr15 52073248 52073248 C G rs140758660 TMOD2 Synonymous SNV V167V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.07 289628 chr4 174235311 174235311 A G GALNT7 Nonsynonymous SNV N531S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 289629 chr4 3591088 3591088 G A rs775291672 LINC00955 0 0 0.003 0 0 0 0 1 0 0 0 0 8.091 289630 chr17 74732352 74732352 C A rs145534754 SRSF2 Nonsynonymous SNV R186L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 289631 chr20 60883513 60883513 C T rs1033632690 ADRM1 Synonymous SNV A329A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.44 289632 chr4 4766153 4766153 C T rs143942257 LOC101928279 0 0 0.007 0 0 0 0 2 0 0 0 0 3.222 289633 chr15 64701841 64701841 A T rs750623695 TRIP4 Nonsynonymous SNV E56V 0 0.003 0 0 0 1 0 0 0 0 0 0 31 289634 chr15 66031102 66031102 C T rs201378259 DENND4A Nonsynonymous SNV S248N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 289635 chr3 108363112 108363112 G A DZIP3 Nonsynonymous SNV A415T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 289636 chr3 138665184 138665184 G A FOXL2 Synonymous SNV Y127Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.386 289637 chr5 5303774 5303774 C T rs73738806 ADAMTS16 Synonymous SNV D1027D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 289638 chr15 73615146 73615146 G A rs116042117 HCN4 Synonymous SNV D1096D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.367 289639 chr15 75498969 75498969 G T rs143715170 C15orf39 Nonsynonymous SNV V194L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.794 289640 chr15 75521636 75521636 C T rs990447993 LOC105376731 Synonymous SNV P39P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.668 289641 chr2 103335640 103335640 C T MFSD9 Nonsynonymous SNV E161K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 289642 chr5 32108076 32108076 T C rs144684213 PDZD2 Synonymous SNV G2785G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.199 289643 chr5 31526717 31526717 C G DROSHA Nonsynonymous SNV R108T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 289644 chr2 105924088 105924088 G A TGFBRAP1 Nonsynonymous SNV A224V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 289645 chr4 72363331 72363331 T G rs372202007 SLC4A4 Synonymous SNV S652S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.656 289646 chr3 120393782 120393782 C A rs138846036 HGD Nonsynonymous SNV A48S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.9 289647 chr2 120236446 120236446 G A rs572299359 SCTR Nonsynonymous SNV P81L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.658 289648 chr15 85656611 85656611 C T PDE8A Nonsynonymous SNV S327F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 289649 chr5 59943313 59943313 T - rs745872443 DEPDC1B N121Tfs*25 0.003 0 0 0 4 0 0 0 0 0 0 0 289650 chr2 128367492 128367492 C T rs372873765 MYO7B Synonymous SNV A1031A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.77 289651 chr17 34842784 34842784 C T rs148890852 ZNHIT3 Nonsynonymous SNV S31L 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24.4 289652 chr18 21124350 21124350 A G rs377179697 NPC1 Synonymous SNV A696A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.305 289653 chr5 79439618 79439618 G A rs973232555 SERINC5 Synonymous SNV N418N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.961 289654 chr2 160843747 160843747 C A rs115349802 PLA2R1 Nonsynonymous SNV A653S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 289655 chr2 163204221 163204221 T C rs755258895 GCA Nonsynonymous SNV V80A 0.001 0 0 0 1 0 0 0 0 0 0 0 22 289656 chr15 99759148 99759148 A G rs142730025 TTC23 Nonsynonymous SNV I137T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.33 289657 chr3 151012615 151012615 T G GPR87 Nonsynonymous SNV Y140S 0.001 0 0 0 1 0 0 0 0 0 0 0 28 289658 chr3 189838246 189838246 T G P3H2 Nonsynonymous SNV H92P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.284 289659 chr3 190362099 190362099 G A IL1RAP Nonsynonymous SNV V372M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 289660 chr2 167142893 167142893 C T rs187453572 SCN9A Nonsynonymous SNV E519K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 289661 chr21 46912469 46912469 G A rs556113991 COL18A1 Synonymous SNV P906P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 7.985 289662 chr2 168099932 168099932 C T rs373331298 XIRP2 Nonsynonymous SNV A455V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.016 289663 chr5 118451943 118451943 G A rs368455602 DMXL1 Nonsynonymous SNV G219R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 289664 chr21 47552344 47552344 G A rs140020002 COL6A2 Nonsynonymous SNV V980M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 25.6 289665 chr5 107716930 107716930 G T rs1030256441 FBXL17 Nonsynonymous SNV Q155K 0.002 0 0 0 2 0 0 0 1 0 0 0 22.8 289666 chr18 43669856 43669856 T C rs148515768 ATP5F1A Nonsynonymous SNV D89G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 289667 chr5 115782309 115782309 T C SEMA6A Synonymous SNV X1031X 0.002 0 0 0 2 0 0 0 1 0 0 0 6.348 289668 chr5 115782423 115782423 G C SEMA6A Nonsynonymous SNV N993K 0.002 0 0 0 2 0 0 0 1 0 0 0 10.1 289669 chr3 195595374 195595374 G A rs201643400 TNK2 Nonsynonymous SNV P616S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.234 289670 chr5 121356279 121356279 C T rs61734327 SRFBP1 Synonymous SNV D283D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.22 289671 chr17 39421750 39421750 T G rs200063505 KRTAP9-6 Nonsynonymous SNV S41A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.21 289672 chr3 196199434 196199434 C T rs35405598 RNF168 Synonymous SNV E324E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.727 289673 chr4 155310 155310 G A ZNF718 Nonsynonymous SNV A279T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.863 289674 chr5 137423543 137423543 T C rs369466608 WNT8A Nonsynonymous SNV M115T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 289675 chr5 140011852 140011852 G A CD14 Synonymous SNV G239G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 289676 chr5 140047854 140047854 A C rs775536564 WDR55 Nonsynonymous SNV E76A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 289677 chr18 56621011 56621011 G A rs375133893 ZNF532 Nonsynonymous SNV V870M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 289678 chr5 140625897 140625897 G A rs201493933 PCDHB15 Nonsynonymous SNV V251I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 289679 chr5 140735120 140735120 G C PCDHGA4 Nonsynonymous SNV R149P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 289680 chr17 41599565 41599565 C T rs748228363 DHX8 Synonymous SNV S1047S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 289681 chr16 2283631 2283631 G A rs548400100 E4F1 Nonsynonymous SNV V417M 0 0.003 0 0 0 1 0 0 0 0 0 0 7.426 289682 chr2 196642647 196642647 G A rs200877512 DNAH7 Synonymous SNV T3647T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.778 289683 chr2 197565905 197565905 G C rs745939676 CCDC150 0.001 0 0 0 1 0 0 0 0 0 0 0 25 289684 chr16 2763665 2763665 G A rs140672073 PRSS27 Synonymous SNV L79L 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 3.846 289685 chr18 67406254 67406254 T C rs766474288 DOK6 Nonsynonymous SNV M218T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.49 289686 chr17 44847385 44847385 T C WNT3 Nonsynonymous SNV I118V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 289687 chr5 149562464 149562464 C T rs562358188 CDX1 Synonymous SNV L193L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 289688 chr5 150051430 150051430 C A rs111772094 MYOZ3 Synonymous SNV A128A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.69 289689 chr5 150175153 150175153 C T rs2278396 SMIM3 Nonsynonymous SNV R51W 0 0 0.007 0 0 0 0 2 0 0 0 0 24.3 289690 chr18 74963026 74963026 G - GALR1 G175Afs*57 0.001 0 0 0 1 0 0 0 0 0 0 0 289691 chr5 153181972 153181972 C T rs368502704 GRIA1 Synonymous SNV I734I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.12 289692 chr19 623559 623559 G T POLRMT Synonymous SNV T395T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.768 289693 chr5 16769267 16769267 C G rs188163012 MYO10 Nonsynonymous SNV V326L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.28 289694 chr2 217543613 217543613 C T rs138553887 IGFBP5 Nonsynonymous SNV R176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 289695 chr2 219263158 219263158 C T rs546283100 CTDSP1 Nonsynonymous SNV T8I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.16 289696 chr2 219294189 219294189 A C rs141545095 VIL1 Nonsynonymous SNV K250T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 289697 chr5 176011844 176011844 C T rs375948149 CDHR2 Synonymous SNV A854A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 289698 chr5 176026580 176026580 C A rs146274822 GPRIN1 Nonsynonymous SNV G86C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 289699 chr5 176289836 176289836 C T rs377468299 UNC5A Synonymous SNV D94D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 289700 chr2 219561256 219561256 T G rs36099639 STK36 Nonsynonymous SNV L840V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.066 289701 chr5 176522597 176522597 G A rs200766146 FGFR4 Nonsynonymous SNV R525Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 289702 chr2 219694877 219694877 G C rs35050588 PRKAG3 Nonsynonymous SNV L153V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 289703 chr4 40776329 40776329 A G rs752393180 NSUN7 Nonsynonymous SNV H179R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.08 289704 chr16 50750833 50750833 G A rs754270929 NOD2 Nonsynonymous SNV A833T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.99 289705 chr16 53272482 53272482 A G CHD9 Nonsynonymous SNV Y954C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 289706 chr2 220111454 220111454 C T rs61733614 STK16 Synonymous SNV H54H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 289707 chr2 220164886 220164886 A C rs35314717 PTPRN Nonsynonymous SNV S419R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.107 289708 chr2 220239723 220239723 T C DNPEP Nonsynonymous SNV T393A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 289709 chr2 220286064 220286064 C T rs61731508 DES Synonymous SNV N342N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.968 289710 chr2 220357500 220357500 G A rs750106331 SPEG Nonsynonymous SNV G3266S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 289711 chr2 220379676 220379676 C T rs996884811 ASIC4 Nonsynonymous SNV S204L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 289712 chr5 176450161 176450161 C T ZNF346 Nonsynonymous SNV A59V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.337 289713 chr2 220466159 220466159 C T STK11IP Synonymous SNV L88L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 289714 chr5 180687001 180687001 C G rs756984572 TRIM52 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 289715 chr5 180687224 180687224 G C rs373894818 TRIM52 Synonymous SNV P197P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.1 289716 chr19 3770742 3770742 C T rs149918940 RAX2 Synonymous SNV A190A 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.61 289717 chr16 58073971 58073971 G A rs146461674 MMP15 Synonymous SNV P211P 0 0.005 0 0 0 2 0 0 0 0 0 0 12.76 289718 chr16 58318522 58318522 G A rs143446844 PRSS54 Nonsynonymous SNV T110M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.537 289719 chr5 177666157 177666157 A G COL23A1 Synonymous SNV P535P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.017 289720 chr19 4488712 4488712 C T rs780281020 HDGFL2 Nonsynonymous SNV P110S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 289721 chr5 179306763 179306763 C T rs749157543 TBC1D9B Synonymous SNV S427S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 289722 chr5 39311320 39311320 T C rs773133139 C9 Nonsynonymous SNV T344A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 289723 chr5 180047307 180047307 G A rs147284137 FLT4 Nonsynonymous SNV P803L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 289724 chr16 69745092 69745092 G A rs375836248 NQO1 Synonymous SNV I132I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 289725 chr16 701977 701977 G A rs369074482 WDR90 Nonsynonymous SNV G331S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.184 289726 chr19 4670281 4670281 C T rs749618925 MYDGF Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 289727 chr19 5737147 5737147 A T CATSPERD 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 289728 chr4 70513196 70513196 G A rs781059827 UGT2A1 Nonsynonymous SNV S56F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 289729 chr4 87622606 87622606 - A rs780661649 PTPN13 Frameshift insertion P286Tfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 289730 chr4 75046569 75046569 G A rs148689342 MTHFD2L Stop gain W19X 0.002 0 0 0 2 0 0 0 0 0 0 0 2.757 289731 chr5 66440558 66440558 A G rs114139516 MAST4 Nonsynonymous SNV D737G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 289732 chr2 240056024 240056024 C T rs763555695 HDAC4 Nonsynonymous SNV R404Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 289733 chr2 241530349 241530349 C T CAPN10 Nonsynonymous SNV L131F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 289734 chr19 7808071 7808071 C T rs200282091 CD209 Nonsynonymous SNV A221T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 289735 chr19 7964950 7964950 G A rs372400584 LRRC8E Nonsynonymous SNV E386K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 289736 chr19 8121092 8121092 C T rs143413416 CCL25 Nonsynonymous SNV R44W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.7 289737 chr5 73981361 73981361 C A rs140509633 HEXB Synonymous SNV T92T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 289738 chr2 242755867 242755867 C T rs777284867 NEU4 Synonymous SNV A75A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 289739 chrX 101971140 101971140 T C rs769008119 ARMCX5-GPRASP2, GPRASP2 Nonsynonymous SNV I448T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 289740 chr4 122682750 122682750 A G TMEM155 Nonsynonymous SNV M26T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 289741 chr6 43023723 43023723 C T rs146544912 MRPL2 Synonymous SNV A181A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.34 289742 chr4 128811045 128811045 A G rs761773657 PLK4 Nonsynonymous SNV Y463C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.015 289743 chr5 95084079 95084079 G A rs147895436 RHOBTB3 Nonsynonymous SNV G153E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 289744 chr5 95084081 95084081 A C rs141752089 RHOBTB3 Nonsynonymous SNV S154R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 289745 chr4 114823541 114823541 C T rs199939366 ARSJ Synonymous SNV K563K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.834 289746 chr6 45870970 45870970 T G rs200204343 CLIC5 Nonsynonymous SNV N363T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 289747 chr3 18308544 18308544 A G LOC339862 0.001 0 0 0 1 0 0 0 0 0 0 0 3.548 289748 chr16 89262646 89262646 G A rs117234471 SLC22A31 Synonymous SNV L350L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.172 289749 chr16 89264515 89264532 GGGCCCCAAGCTCACACT - rs143579658 SLC22A31 Q289_Y290delinsH 0 0.003 0 0 0 1 0 0 0 0 0 0 289750 chr16 89264543 89264543 G A rs955734687 SLC22A31 Synonymous SNV L285L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 289751 chr16 89348452 89348475 GCTCGTCCCTGTGATGCCGCAGGA - rs534329317 ANKRD11 L1492_E1499del 0 0.003 0 0 0 1 0 0 0 0 0 0 289752 chr6 105729653 105729653 C T rs780337515 PREP Synonymous SNV S602S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.74 289753 chr6 107003761 107003761 T A rs371485527 CRYBG1 Nonsynonymous SNV F1494I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 289754 chr3 32931933 32931933 A G TRIM71 Nonsynonymous SNV S413G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 289755 chr6 107113733 107113733 G A rs778001168 QRSL1 Synonymous SNV A481A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 289756 chr17 80333065 80333065 G T rs759473085 UTS2R Nonsynonymous SNV A289S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 289757 chr3 33731341 33731341 C A CLASP2 Nonsynonymous SNV D120Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 289758 chr16 929578 929578 G A rs534849012 LMF1 Synonymous SNV L188L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.425 289759 chr19 9271424 9271424 G A rs138997775 ZNF317 Nonsynonymous SNV G336D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 289760 chr6 52843322 52843324 CTT - rs557844606 GSTA4 K205del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 289761 chr4 154641407 154641407 C T rs773872092 RNF175 Nonsynonymous SNV G187S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 289762 chr17 10533731 10533731 G A rs200111154 MYH3 Synonymous SNV S1777S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.37 289763 chr19 10247882 10247882 G A rs2229858 DNMT1 Synonymous SNV P1440P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.359 289764 chr6 43182984 43182984 C T rs1009351892 CUL9 Synonymous SNV A1952A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 289765 chr3 42906595 42906595 G A rs368758367 ACKR2 Nonsynonymous SNV G201R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 289766 chr19 12187100 12187100 A G ZNF844 Nonsynonymous SNV R389G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 289767 chr4 170051197 170051197 T C SH3RF1 Synonymous SNV G393G 0 0 0 1 0 0 0.003 0 0 0 0 0 3.447 289768 chr6 74354277 74354277 A C SLC17A5 Nonsynonymous SNV F48L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.655 289769 chr19 12996234 12996234 C T KLF1 Synonymous SNV S270S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 289770 chr17 17717680 17717680 C T rs748241108 SREBF1 Nonsynonymous SNV R903Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 289771 chr6 137338202 137338202 T C rs191996643 IL20RA Nonsynonymous SNV I43V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.16 289772 chr6 138655843 138655843 G T rs770892594 ARFGEF3 Nonsynonymous SNV G1954C 0 0.003 0.007 0 0 1 0 2 0 0 0 0 25.3 289773 chr4 177046446 177046446 G T rs138556631 WDR17 Nonsynonymous SNV A244S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 289774 chr4 177046455 177046455 G A rs114620724 WDR17 Nonsynonymous SNV V247I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 289775 chr4 178243716 178243716 T G rs148027965 NEIL3 Nonsynonymous SNV F87C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 289776 chr6 139564337 139564337 C T rs761996834 TXLNB Nonsynonymous SNV A461T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.34 289777 chr6 143828424 143828424 A C rs745746267 FUCA2 Nonsynonymous SNV F121C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 289778 chr6 94120426 94120426 T C rs761641519 EPHA7 Nonsynonymous SNV I209V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.478 289779 chr1 3396390 3396390 G A rs778006269 ARHGEF16 Nonsynonymous SNV E635K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 289780 chr6 149691154 149691154 A G rs553008331 TAB2 Synonymous SNV Q7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.223 289781 chr3 52552019 52552019 G A rs902540330 STAB1 Synonymous SNV L1587L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 289782 chr6 154727755 154727755 G A rs148296759 CNKSR3 Synonymous SNV N292N 0 0 0.007 0 0 0 0 2 0 0 0 0 11.65 289783 chr6 157522485 157522485 C T rs777745107 ARID1B Nonsynonymous SNV T876M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 289784 chr17 2604991 2604991 G A rs370745403 CLUH Synonymous SNV I220I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 289785 chr6 159401861 159401861 C T rs200370157 RSPH3 Synonymous SNV P314P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.58 289786 chr19 17835962 17835962 G C rs73924330 MAP1S Synonymous SNV S110S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.714 289787 chr1 11596615 11596615 C T DISP3 Nonsynonymous SNV R1351W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 289788 chr17 26851839 26851839 T C rs761540532 FOXN1 Nonsynonymous SNV S148P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 289789 chr17 26910922 26910922 C T rs143883268 SPAG5 Nonsynonymous SNV R832Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 289790 chr19 17954215 17954215 G T rs3212723 JAK3 Nonsynonymous SNV P132T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23 289791 chr19 17954597 17954597 C G rs3212716 JAK3 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.312 289792 chr17 27086734 27086734 G A FAM222B Synonymous SNV L81L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.155 289793 chr5 33461126 33461126 G T TARS1 Nonsynonymous SNV R457I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 289794 chr6 160551217 160551217 G T rs201942835 SLC22A1 Nonsynonymous SNV G165C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.55 289795 chr6 161152242 161152242 T A rs748980932 PLG Nonsynonymous SNV D472E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 289796 chr6 167570976 167570976 C T rs374776628 GPR31 Nonsynonymous SNV R115H 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 289797 chr3 98251814 98251814 A G GPR15 Nonsynonymous SNV I313V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 289798 chr1 17355218 17355218 A G rs11541235 SDHB Synonymous SNV S100S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.3 289799 chr6 17539526 17539526 G A rs374569122 CAP2 Synonymous SNV A109A 0 0 0.007 0 0 0 0 2 0 0 1 0 9.6 289800 chr17 33884671 33884671 A G rs952559613 SLFN14 Synonymous SNV S137S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.646 289801 chr5 35753769 35753769 A G SPEF2 Nonsynonymous SNV E1125G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 289802 chr19 32083667 32083667 G A THEG5 Nonsynonymous SNV E57K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 289803 chr6 2623858 2623858 C T rs370258012 LINC01600 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 289804 chr17 36666760 36666760 C T rs570315557 ARHGAP23 Nonsynonymous SNV P1343L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.54 289805 chr6 27369144 27369144 C T rs535610155 ZNF391 Nonsynonymous SNV P332L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 289806 chr6 28134787 28134787 A G ZNF192P1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 289807 chr1 19455492 19455492 G A rs138409903 UBR4 Nonsynonymous SNV R2995W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 289808 chr5 64314141 64314141 G A rs779259350 CWC27 Nonsynonymous SNV R471K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 22.3 289809 chr19 34843763 34843764 AG - KIAA0355 Q1039Pfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 289810 chr19 34843764 34843764 - CCCCCCCCCC KIAA0355 Frameshift insertion A1045Tfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 289811 chr3 113737534 113737534 T G rs982997177 CCDC191 Nonsynonymous SNV E363A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 289812 chr6 137519183 137519183 G A IFNGR1 Synonymous SNV S485S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.621 289813 chr17 38907484 38907484 A C rs151036091 KRT25 Nonsynonymous SNV M255R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 289814 chr5 74101028 74101028 C T FAM169A Nonsynonymous SNV R251Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 289815 chr5 74970382 74970382 C T POC5 Nonsynonymous SNV A511T 0 0 0 1 0 0 0.003 0 0 0 0 0 34 289816 chr5 75596606 75596606 T C SV2C Synonymous SNV F563F 0 0 0 1 0 0 0.003 0 0 0 0 0 4.264 289817 chr6 35208919 35208919 T C SCUBE3 Synonymous SNV D356D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.381 289818 chr6 35587969 35587969 A G FKBP5 Synonymous SNV Y111Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.05 289819 chr19 36486412 36486412 G A rs970855808 SDHAF1 Nonsynonymous SNV R79Q 0.002 0 0 0 2 0 0 0 0 0 0 0 13.51 289820 chr6 36685128 36685128 G A rs890123440 RAB44 Synonymous SNV L191L 0 0 0.007 0 0 0 0 2 0 0 1 0 6.354 289821 chr17 39296290 39296304 GCAGCAGCTGGAGAT - rs763223504 KRTAP4-6 I146_C150del 0 0.003 0 0 0 1 0 0 0 0 0 0 289822 chr6 37450966 37450966 A G rs764902665 CCDC167 Nonsynonymous SNV M97T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.31 289823 chr5 79744095 79744095 T C ZFYVE16 Nonsynonymous SNV I992T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.52 289824 chr17 39383163 39383163 G A rs200569975 KRTAP9-2 Nonsynonymous SNV C86Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 289825 chr6 39864627 39864627 G A rs749927113 DAAM2 Nonsynonymous SNV R794H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 289826 chr5 80171626 80171626 A G MSH3 Nonsynonymous SNV Q1120R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.039 289827 chr17 39412126 39412126 C T rs201003546 KRTAP9-9 Synonymous SNV C163C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.1 289828 chr17 39464199 39464199 G A rs761709081 KRTAP16-1 Nonsynonymous SNV P436L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 289829 chr17 39642782 39642783 AT - rs762379005 KRT36 Stop gain I417* 0 0.003 0 0 0 1 0 0 0 0 0 0 289830 chr5 77316548 77316548 G C AP3B1 Nonsynonymous SNV A938G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 289831 chr6 44274036 44274036 C T rs557359115 AARS2 Synonymous SNV G427G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.33 289832 chr19 39410403 39410403 C T rs185053576 SARS2 Nonsynonymous SNV R253Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 289833 chr5 79336091 79336091 C T rs200373343 THBS4 Nonsynonymous SNV R3C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 289834 chr1 34209187 34209187 T A rs754950964 CSMD2 Nonsynonymous SNV T623S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 289835 chr17 40328183 40328183 C T rs138796695 KCNH4 Nonsynonymous SNV V240I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 289836 chr17 40766978 40766978 G A rs11538914 TUBG1 Synonymous SNV R425R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 11.58 289837 chr5 111504714 111504714 G A rs200812889 EPB41L4A Stop gain R610X 0 0 0 1 0 0 0.003 0 0 0 0 0 47 289838 chr6 49494259 49494259 C A GLYATL3 Synonymous SNV R167R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 289839 chr6 49494572 49494572 G A rs754703780 GLYATL3 Nonsynonymous SNV R271H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 289840 chr5 112178781 112178781 C T rs141010008 APC Nonsynonymous SNV S2479L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 289841 chr19 41035037 41035037 A G rs372839675 SPTBN4 Nonsynonymous SNV E1316G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 289842 chr17 41570079 41570079 A C rs994596088 DHX8 Synonymous SNV R87R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.154 289843 chr1 42046372 42046372 G A rs145728425 HIVEP3 Nonsynonymous SNV T1366M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 289844 chr19 44254761 44254761 A G rs202142067 SMG9 Nonsynonymous SNV W45R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 289845 chr5 108233493 108233493 A G FER Nonsynonymous SNV K219E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.03 289846 chr5 131670545 131670545 C T rs201507559 SLC22A4 Nonsynonymous SNV T394I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.32 289847 chr6 71546709 71546709 C T SMAP1 Synonymous SNV P187P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.249 289848 chr3 150690313 150690313 C T rs140094683 CLRN1 Nonsynonymous SNV M61I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.19 289849 chr6 7182276 7182276 G A rs200955755 RREB1 Synonymous SNV S44S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.13 289850 chr17 46050940 46050940 G A rs148294427 CDK5RAP3 Synonymous SNV T61T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.03 289851 chr19 18235504 18235504 C T rs750204537 MAST3 Nonsynonymous SNV A304V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 289852 chr6 80223399 80223399 G A rs750430540 LCA5 Nonsynonymous SNV R84C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 289853 chr7 30821616 30821616 A G rs764924738 MINDY4 Synonymous SNV T69T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.439 289854 chr1 50907187 50907187 T C rs761313785 FAF1 Synonymous SNV Q626Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.848 289855 chr19 18474261 18474261 C T rs146707720 PGPEP1 Nonsynonymous SNV R89C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 289856 chr17 48183381 48183381 G A PDK2 Synonymous SNV L91L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 289857 chr3 170585855 170585855 A G rs780691836 RPL22L1 Synonymous SNV I57I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 289858 chr7 24681359 24681359 A C rs768590297 MPP6 Nonsynonymous SNV K48Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 289859 chr5 140308428 140308428 A T rs782153694 PCDHAC1 Nonsynonymous SNV T651S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.211 289860 chr5 140711524 140711524 A C PCDHGA1 Nonsynonymous SNV I425L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.6 289861 chr7 29923995 29923995 G T rs367797283 WIPF3 Synonymous SNV P295P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 289862 chr3 183521831 183521831 G A rs199532046 YEATS2 Synonymous SNV P1213P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 289863 chr5 140720545 140720545 C T rs752667791 PCDHGA2 Synonymous SNV P669P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.024 289864 chr5 140762826 140762826 C A rs768704302 PCDHGA7 Nonsynonymous SNV D120E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.481 289865 chr3 183772516 183772516 C T rs773852375 HTR3C Synonymous SNV G25G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 289866 chr17 54534673 54534673 G A ANKFN1 Nonsynonymous SNV E458K 0 0.003 0 0 0 1 0 0 0 0 0 0 31 289867 chr3 184019735 184019735 T C PSMD2 Nonsynonymous SNV Y64H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 289868 chr19 48571106 48571108 TGT - PLA2G4C T358del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 289869 chr7 37780035 37780035 C A rs969080271 GPR141 Nonsynonymous SNV P14T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 289870 chr19 48737689 48737689 C T CARD8 Nonsynonymous SNV S16N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.413 289871 chr19 48737691 48737691 C T CARD8 Nonsynonymous SNV E57K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 289872 chr3 189700903 189700903 C A rs140958763 P3H2 Nonsynonymous SNV G238V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.112 289873 chr17 63533546 63533546 C T AXIN2 Synonymous SNV T536T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.96 289874 chr19 49573681 49573681 C T rs372895611 KCNA7 Nonsynonymous SNV R337Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 289875 chr19 49931882 49931882 - AC rs543806005 GFY Frameshift insertion H455Qfs*65 0.003 0 0 0 4 0 0 0 0 0 0 0 289876 chr19 49931884 49931884 T G rs529375374 GFY Nonsynonymous SNV L456V 0.003 0 0 0 4 0 0 0 0 0 0 0 19.76 289877 chr19 49931888 49931891 ACGC - rs558835963 GFY D457Afs*61 0.003 0 0 0 4 0 0 0 0 0 0 0 289878 chr19 49931892 49931892 C T rs547730700 GFY Synonymous SNV A458A 0.003 0 0 0 4 0 0 0 0 0 0 0 19.01 289879 chr3 196159382 196159382 T C rs867938334 UBXN7-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.022 289880 chr7 48349669 48349669 A G rs201367951 ABCA13 Synonymous SNV P3149P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 289881 chr3 197618381 197618381 A G rs896565261 IQCG Nonsynonymous SNV I378T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 289882 chr4 738404 738404 C T PCGF3 Synonymous SNV D130D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.26 289883 chr7 63982511 63982511 C A rs145625716 ZNF680 Nonsynonymous SNV E207D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 289884 chr17 72353234 72353234 G A rs554635743 BTBD17 Synonymous SNV D333D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.197 289885 chr7 122111458 122111458 T C rs778672176 CADPS2 Synonymous SNV A716A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 289886 chr5 176939180 176939180 G A DDX41 Nonsynonymous SNV A424V 0 0 0 1 0 0 0.003 0 0 0 0 0 27 289887 chr7 122342067 122342067 T C rs543639017 RNF148 Synonymous SNV E246E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 289888 chr7 100279754 100279754 T C GIGYF1 Nonsynonymous SNV K956E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 289889 chr7 88964589 88964589 T C ZNF804B Synonymous SNV L765L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 289890 chr17 73813432 73813432 G A rs754393636 UNK Nonsynonymous SNV G377D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.57 289891 chr17 73910040 73910040 T G rs369024350 FBF1 Nonsynonymous SNV Q1028P 0 0.003 0 0 0 1 0 0 0 0 0 0 26 289892 chr5 180166941 180166941 A G rs1007865801 OR2Y1 Nonsynonymous SNV F40L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 289893 chr19 54297342 54297342 C T rs148506660 NLRP12 Synonymous SNV A992A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 289894 chr1 117635514 117635514 G C rs1056802412 TTF2 Nonsynonymous SNV E989D 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 18.17 289895 chr19 54932538 54932538 C A TTYH1 Nonsynonymous SNV H131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 289896 chr7 143053790 143053790 C T rs375554258 FAM131B Synonymous SNV E218E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 289897 chr19 55543733 55543733 C G GP6 Synonymous SNV L33L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 289898 chr6 20758849 20758849 A G rs766680308 CDKAL1 Synonymous SNV V164V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 289899 chr6 27369111 27369111 T C rs374936870 ZNF391 Nonsynonymous SNV I321T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 289900 chr19 56089952 56089952 C T rs572846949 ZNF579 Nonsynonymous SNV G352S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.663 289901 chr4 48542436 48542436 C T rs778405651 FRYL Nonsynonymous SNV V2077M 0.003 0 0 0 3 0 0 0 0 0 0 0 27.2 289902 chr6 28297150 28297150 G A rs143813425 ZSCAN31 Nonsynonymous SNV P104L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 289903 chr7 151372659 151372659 C A rs373000537 PRKAG2 Synonymous SNV L53L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.238 289904 chr7 151848636 151848636 C A KMT2C Nonsynonymous SNV G4186V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 289905 chr4 57797089 57797089 C T rs149486440 REST Nonsynonymous SNV P689S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 289906 chr19 56735153 56735153 G A rs140466399 ZSCAN5A Synonymous SNV I28I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.436 289907 chr19 47572526 47572526 C T rs554387468 ZC3H4 Nonsynonymous SNV D741N 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 289908 chr19 57325705 57325705 C T rs180768721 PEG3 Nonsynonymous SNV A1214T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.988 289909 chr19 48639341 48639341 G A LIG1 Nonsynonymous SNV S390L 0.002 0 0 0 2 0 0 0 0 0 0 0 29 289910 chr19 58846556 58846556 G A rs149157552 ZSCAN22, ZSCAN22 Nonsynonymous SNV V130M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.87 289911 chr4 79207631 79207631 G A rs369973948 FRAS1 Nonsynonymous SNV R491Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.817 289912 chr6 43309918 43309918 G A ZNF318 Nonsynonymous SNV S1103L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 289913 chr19 58879918 58879918 A G rs959759151 ZNF837 Nonsynonymous SNV I261T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 289914 chr19 58991354 58991354 C T rs200445318 ZNF446 Nonsynonymous SNV T257M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.042 289915 chr7 127958066 127958066 C T RBM28 Nonsynonymous SNV A412T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 289916 chr7 37172791 37172791 A C rs749453235 ELMO1 Nonsynonymous SNV L379V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 289917 chr20 3180990 3180990 C A DDRGK1 Stop gain E136X 0.002 0 0 0 2 0 0 0 0 0 0 0 39 289918 chr6 56481506 56481506 - C DST Frameshift insertion V2254Cfs*3 0 0 0 1 0 0 0.003 0 0 0 0 0 289919 chr19 51537358 51537358 G A rs61742854 KLK12 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.9 289920 chr20 3842036 3842036 C G rs376017077 MAVS Nonsynonymous SNV P117R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 289921 chr18 44589364 44589364 G A KATNAL2 Nonsynonymous SNV G80R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 289922 chr6 76744421 76744421 T C rs749035887 IMPG1 Nonsynonymous SNV I51V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 289923 chr6 87970627 87970627 T G rs774642356 ZNF292 Nonsynonymous SNV F2427C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.11 289924 chr7 56082831 56082831 G A rs147304638 PSPH Nonsynonymous SNV T152I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 289925 chr6 89790920 89790920 C T rs904285031 PNRC1 Nonsynonymous SNV R103W 0 0 0 1 0 0 0.003 0 0 0 0 0 24 289926 chr6 49425736 49425736 C T MMUT Nonsynonymous SNV A141T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.8 289927 chr20 20552587 20552587 G A rs554166784 RALGAPA2 Nonsynonymous SNV R969W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 289928 chr18 5891041 5891041 G A rs370938599 TMEM200C Nonsynonymous SNV A341V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.91 289929 chr20 30607059 30607059 G A rs538538318 CCM2L Synonymous SNV A260A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 289930 chr7 883151 883151 C A rs770167481 SUN1 Nonsynonymous SNV Q29K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 289931 chr20 34568544 34568544 G A rs202241014 CNBD2 Nonsynonymous SNV R136Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 289932 chr7 94229019 94229019 G T SGCE Nonsynonymous SNV Q311K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.424 289933 chr6 83900612 83900612 A T PGM3 Nonsynonymous SNV F40L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 289934 chr7 98534828 98534828 C T rs574797700 TRRAP Synonymous SNV I1387I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 289935 chr18 77896029 77896029 C T rs372240702 ADNP2 Synonymous SNV P911P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.021 289936 chr20 44573518 44573518 G A PCIF1 Synonymous SNV E339E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.409 289937 chr8 104438340 104438340 C T rs113982117 DCAF13 Synonymous SNV D145D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 289938 chr6 138655223 138655223 C T rs139426666 ARFGEF3 Nonsynonymous SNV T1747M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.46 289939 chr8 105503401 105503401 T C rs16871494 LRP12 Nonsynonymous SNV S675G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.061 289940 chr8 29924436 29924436 - G SARAF 0 0.003 0 0 0 1 0 0 0 0 0 0 289941 chr8 120581610 120581610 C T ENPP2 Nonsynonymous SNV A640T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 289942 chr8 121530192 121530192 G A rs548643877 MTBP Nonsynonymous SNV R783Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 289943 chr8 27294937 27294937 C T rs781741081 PTK2B Nonsynonymous SNV P484L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 289944 chr6 157488268 157488268 A G rs868392930 ARID1B Nonsynonymous SNV T229A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.78 289945 chr6 157521988 157521988 G A rs759092517 ARID1B Synonymous SNV Q710Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.282 289946 chr8 37732434 37732434 G A rs752778885 RAB11FIP1 Synonymous SNV D407D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.372 289947 chr5 1034906 1034906 C T rs757763041 NKD2 Synonymous SNV V154V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 289948 chr5 2749880 2749880 T A rs1042029942 IRX2 Nonsynonymous SNV T91S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 289949 chr19 15491178 15491178 C T rs775633249 AKAP8L Nonsynonymous SNV A505T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 289950 chr6 160645766 160645766 C G rs144511904 SLC22A2 Nonsynonymous SNV E524D 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 289951 chr5 13894813 13894813 T A DNAH5 Nonsynonymous SNV T793S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 289952 chr8 144063728 144063728 G C rs529112859 LY6E-DT 0 0 0.007 0 0 0 0 2 0 0 0 0 1.012 289953 chr6 170151453 170151453 G A rs781636684 TCTE3 Synonymous SNV S34S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.16 289954 chr6 170593060 170593060 G A rs774614063 DLL1 Nonsynonymous SNV S436L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 289955 chr19 17837762 17837762 G C rs752082210 MAP1S Synonymous SNV R497R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.048 289956 chr5 34929959 34929959 G A rs1011517135 DNAJC21 Nonsynonymous SNV R12H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 289957 chr5 34929960 34929960 C G rs768651904 DNAJC21 Synonymous SNV R12R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 289958 chr21 33687295 33687295 C T rs894613595 URB1 Synonymous SNV P2250P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 289959 chr5 37170334 37170334 G A CPLANE1 Nonsynonymous SNV H2091Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.183 289960 chr5 40998261 40998261 C T rs111906143 MROH2B 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.7 289961 chr21 37444120 37444120 C A rs35710857 CBR1 Stop gain C135X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.282 289962 chr7 6628430 6628430 G A rs761581633 ZDHHC4 Synonymous SNV P308P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.662 289963 chr21 37518509 37518509 A - rs758091108 CBR3 D178Afs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 289964 chr8 125579336 125579336 G A MTSS1 Synonymous SNV H234H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.225 289965 chr19 2252432 2252432 C T rs773125309 JSRP1 Nonsynonymous SNV A298T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 289966 chr5 64847427 64847427 C T rs751218204 CENPK Nonsynonymous SNV A69T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 289967 chr7 20825292 20825292 G A rs748860131 SP8 Synonymous SNV F48F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.72 289968 chr5 66460535 66460535 T C rs762290536 MAST4 Nonsynonymous SNV L1582P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.524 289969 chr8 19221649 19221649 A G rs561682825 SH2D4A Nonsynonymous SNV K213R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 289970 chr8 20031880 20031880 G A SLC18A1 Nonsynonymous SNV S208F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 289971 chr8 2020507 2020507 C T rs371192020 MYOM2 Synonymous SNV G292G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 289972 chr8 22473614 22473614 G C rs200118469 CCAR2 Nonsynonymous SNV K566N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 289973 chr5 74018232 74018232 A G rs143306569 GFM2 Nonsynonymous SNV I681T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 289974 chr7 44113381 44113381 C T POLM 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 289975 chr8 33371063 33371063 C G rs181140696 SNORD13 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 289976 chr8 41547750 41547750 C T rs148620640 ANK1 Nonsynonymous SNV A1367T 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 17.74 289977 chr8 53555119 53555119 G A rs375185081 RB1CC1 Nonsynonymous SNV R1377C 0 0 0.003 0 0 0 0 1 0 0 0 0 29 289978 chr22 20786251 20786251 A G rs769523994 SCARF2 Synonymous SNV A66A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.465 289979 chr8 56699549 56699549 A G rs371657989 TGS1 Synonymous SNV E271E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.82 289980 chr9 35380620 35380620 C T rs916596704 UNC13B Synonymous SNV D334D 0 0.003 0 0 0 1 0 0 0 0 0 0 16.47 289981 chr8 74858952 74858952 A C ELOC Synonymous SNV T68T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.241 289982 chr5 114480325 114480325 G C rs779320009 TRIM36 Synonymous SNV T92T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.29 289983 chr8 79609675 79609675 C T ZC2HC1A Nonsynonymous SNV P180S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 289984 chr8 8235092 8235092 C T rs200629467 PRAG1 Nonsynonymous SNV R276Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.506 289985 chr5 118324171 118324171 C T rs145077965 DTWD2 Synonymous SNV E12E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 289986 chr1 1248329 1248329 G A rs56104163 INTS11 Synonymous SNV L280L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 8.545 289987 chr19 42817603 42817603 C A TMEM145 Synonymous SNV P25P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 289988 chr5 128844852 128844852 G A rs780279219 ADAMTS19 Nonsynonymous SNV R277H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 289989 chr1 145440449 145440449 G A TXNIP Nonsynonymous SNV G197D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 289990 chr19 4353025 4353025 G A rs201571889 MPND Synonymous SNV P221P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.015 289991 chr7 99022713 99022713 T C ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV H481R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 289992 chr9 74674230 74674230 A C rs1023214183 C9orf57 Nonsynonymous SNV F6L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 15.96 289993 chr1 150808879 150808879 C T rs774247572 ARNT Nonsynonymous SNV V178M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 289994 chr19 4454040 4454040 C T rs576544561 UBXN6 Nonsynonymous SNV R45H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 289995 chr2 16082765 16082765 C T rs763123842 MYCN Synonymous SNV F193F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 289996 chr5 140774315 140774315 C G rs960054108 PCDHGA8 Synonymous SNV A645A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.218 289997 chr5 141694488 141694488 G A rs755664981 SPRY4 Synonymous SNV T62T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 289998 chr9 116060316 116060316 G T rs749789219 RNF183 Nonsynonymous SNV A50D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.652 289999 chr19 4512072 4512072 T C rs73920828 PLIN4 Nonsynonymous SNV I634V 0 0.005 0 0 0 2 0 0 0 0 0 0 0.001 290000 chr19 4513352 4513352 G A rs367850508 PLIN4 Nonsynonymous SNV T207I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 290001 chr19 4523552 4523552 C T rs201137983 PLIN5 Synonymous SNV E460E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.444 290002 chr22 42611121 42611121 G A rs199530245 TCF20 Nonsynonymous SNV A64V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 290003 chr19 46289593 46289593 C T rs574181599 DMWD Synonymous SNV A387A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.685 290004 chr5 150227965 150227965 A G IRGM Nonsynonymous SNV T94A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 290005 chr22 46748026 46748026 C T rs199793990 TRMU Synonymous SNV G106G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.84 290006 chr5 154272030 154272030 G A rs368952814 GEMIN5 Nonsynonymous SNV A1225V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 290007 chr7 107613494 107613494 T C rs202065996 LAMB1 Nonsynonymous SNV N502S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 290008 chr9 120176931 120176931 C T ASTN2 Nonsynonymous SNV A96T 0.002 0 0 0 2 0 0 0 1 0 0 0 22.2 290009 chr9 129595667 129595667 C T rs80025775 ZBTB43 Synonymous SNV I293I 0 0 0.007 0 0 0 0 2 0 0 0 0 9.153 290010 chr9 124062215 124062215 C T rs1048849212 GSN Nonsynonymous SNV R26C 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 23 290011 chr22 50658164 50658164 C T rs372567052 TUBGCP6 Synonymous SNV A1408A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 290012 chr9 131245130 131245130 G A rs139481144 ODF2 Synonymous SNV E236E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 290013 chr9 131343207 131343207 G A rs77358650 SPTAN1 Nonsynonymous SNV V444I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.811 290014 chr9 125759603 125759603 C T RABGAP1 Synonymous SNV S389S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 290015 chr7 107414570 107414570 A G rs35776303 SLC26A3 Nonsynonymous SNV I601T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.12 290016 chr9 134393862 134393862 G A rs377304621 POMT1 Nonsynonymous SNV V283I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.043 290017 chr9 134463383 134463383 A C RAPGEF1 Nonsynonymous SNV H859Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.52 290018 chr7 139416351 139416351 G A rs199720173 HIPK2 Synonymous SNV A161A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.772 290019 chrX 55044078 55044078 C A rs368251919 ALAS2 Nonsynonymous SNV A245S 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 24.8 290020 chr9 139612118 139612118 G C rs755605586 DIPK1B Synonymous SNV S51S 0.002 0.005 0 0 2 2 0 0 0 0 0 0 9.073 290021 chr7 141920482 141920482 T C rs569855166 MGAM2 Synonymous SNV T2057T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.334 290022 chr7 142565415 142565415 C T rs538727287 EPHB6 Synonymous SNV I308I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.18 290023 chrX 77254022 77254022 C G rs781964005 ATP7A Nonsynonymous SNV P462A 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 1.069 290024 chrX 77268428 77268428 A G rs782664014 ATP7A Nonsynonymous SNV K742R 0.002 0 0 0 2 0 0 0 1 0 0 0 Uncertain significance 7.701 290025 chr7 148801285 148801285 C A rs267601397 ZNF425 Nonsynonymous SNV D560Y 0 0 0 1 0 0 0.003 0 0 0 0 0 32 290026 chrX 99662708 99662708 G A rs368963363 PCDH19 Synonymous SNV G296G 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Benign/Likely benign 4.048 290027 chr9 140878679 140878679 G A rs200379740 CACNA1B Synonymous SNV L582L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.635 290028 chrX 114242521 114242521 T C IL13RA2 Nonsynonymous SNV E324G 0.002 0 0 0 2 0 0 0 1 0 0 0 27.5 290029 chr7 149524035 149524035 C T rs766335109 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 4.731 290030 chr9 20716113 20716113 C T rs745511421 MIR491 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 290031 chrX 123205161 123205161 A G STAG2 Nonsynonymous SNV N841D 0.002 0 0 0 2 0 0 0 1 0 0 0 18.04 290032 chr19 54299187 54299187 G A rs140769141 NLRP12 Synonymous SNV N951N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.569 290033 chr9 2729569 2729569 A C rs566673245 KCNV2 Nonsynonymous SNV N494H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 290034 chr7 150815394 150815394 G A rs771541285 AGAP3 Synonymous SNV A268A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.459 290035 chr9 32572969 32572969 A G rs770583535 NDUFB6 Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 290036 chr8 1950417 1950417 C T KBTBD11 Synonymous SNV G353G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 290037 chr10 5437356 5437356 G A rs141292428 TUBAL3 Synonymous SNV Y70Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.219 290038 chr9 72723250 72723250 C T rs553962480 MAMDC2 Nonsynonymous SNV S91L 0 0 0.007 0 0 0 0 2 0 0 1 0 12.59 290039 chr6 36168553 36168553 G A rs537929575 BRPF3 Nonsynonymous SNV V152I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 290040 chr8 10470518 10470518 G A RP1L1 Nonsynonymous SNV P364S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 290041 chr9 79324917 79324917 G T rs768435339 PRUNE2 Nonsynonymous SNV T758K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 290042 chr8 16032714 16032714 G C rs374421917 MSR1 Nonsynonymous SNV L85V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 290043 chr10 21784799 21784799 C T rs201888917 MIR1915HG 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 290044 chr10 24669838 24669838 G A KIAA1217 Nonsynonymous SNV S132N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 290045 chrUn_gl000220 118118 118118 C G RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 290046 chr10 26994281 26994281 C T rs747850974 PDSS1 Synonymous SNV L98L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 290047 chr6 42946758 42946758 C G PEX6 Nonsynonymous SNV G44A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 290048 chrX 113997745 113997745 C T MIR1911 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 290049 chr6 44387297 44387297 G T rs777633635 CDC5L Nonsynonymous SNV V402L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 290050 chrX 124456028 124456028 G T rs747874120 TEX13C Nonsynonymous SNV S687I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.237 290051 chr1 11303287 11303287 C T rs764242916 MTOR Synonymous SNV A432A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 20.3 290052 chr8 28575049 28575049 C T rs747900653 EXTL3 Synonymous SNV T491T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.938 290053 chr8 29046057 29046057 T C rs568211147 KIF13B Synonymous SNV A97A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.105 290054 chr8 32600214 32600214 T C NRG1 Synonymous SNV G64G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.154 290055 chr8 37702165 37702165 C T rs373464922 BRF2 Nonsynonymous SNV R368Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 290056 chr10 64148204 64148204 G A rs763110946 ZNF365 Nonsynonymous SNV V265I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.16 290057 chrX 152939537 152939537 A G rs782444002 PNCK Nonsynonymous SNV W32R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 290058 chrX 153038724 153038724 C G rs548743882 PLXNB3 Synonymous SNV T982T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.254 290059 chr1 16054067 16054067 T A rs745792439 PLEKHM2 Synonymous SNV A500A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 290060 chrX 16881113 16881113 T A RBBP7 Nonsynonymous SNV Q135L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 290061 chrX 16881129 16881129 G A RBBP7 Nonsynonymous SNV P130S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 290062 chrX 22186485 22186485 T C rs765101791 PHEX Synonymous SNV H487H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.772 290063 chr8 67831262 67831262 C T rs983524055 MCMDC2 Nonsynonymous SNV P635L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 290064 chrX 32717258 32717258 A G rs1800264 DMD Synonymous SNV L260L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.861 290065 chr10 75277450 75277450 C T rs201131582 USP54 Nonsynonymous SNV G855S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.432 290066 chrX 48891027 48891027 G A rs201808352 TFE3 Synonymous SNV N258N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 290067 chr19 868247 868247 C T MED16 Nonsynonymous SNV V830I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 290068 chrX 49022623 49022623 C T rs781930221 MAGIX Nonsynonymous SNV P221L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 290069 chrX 49099767 49099767 G A rs782522722 CCDC22 Nonsynonymous SNV A185T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 290070 chrX 50377532 50377532 C A rs149678940 SHROOM4 Nonsynonymous SNV R514I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 290071 chr2 179613119 179613119 C T rs794729595 TTN Nonsynonymous SNV V4670I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.034 290072 chr8 105367284 105367284 G A rs779549182 DCSTAMP Synonymous SNV L403L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.95 290073 chr6 90365645 90365645 T C MDN1 Nonsynonymous SNV M5110V 0.003 0 0 0 3 0 0 0 0 0 0 0 5.362 290074 chrX 70356208 70356208 T C rs762801267 MED12 Synonymous SNV S1701S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.02 290075 chrX 70712181 70712181 T G rs770279354 INGX 0 0 0.003 0 0 0 0 1 0 0 0 0 7.529 290076 chr6 99347158 99347158 G A rs201889294 FBXL4 Stop gain R435X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 42 290077 chr8 124096526 124096526 T C TBC1D31 Synonymous SNV D50D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.188 290078 chr8 126096102 126096102 T C rs549678165 WASHC5 Synonymous SNV Q13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.497 290079 chr8 133045372 133045372 A G rs61643278 OC90 Nonsynonymous SNV I258T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 290080 chr8 133584669 133584669 G A LRRC6 Nonsynonymous SNV T347I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.35 290081 chr10 103901533 103901533 G A rs777762516 PPRC1 Nonsynonymous SNV V1090M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 290082 chr8 133918945 133918945 C T rs142335537 TG Nonsynonymous SNV P1216L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 290083 chr6 110714303 110714303 C A DDO Nonsynonymous SNV G121V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 290084 chr6 111714133 111714133 G A REV3L Nonsynonymous SNV S203L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 290085 chr1 108309154 108309154 G A rs149523730 VAV3 Nonsynonymous SNV R246W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 290086 chr10 11653611 11653611 C T LOC107984208 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 290087 chr6 121629140 121629140 A T rs547748116 TBC1D32 Nonsynonymous SNV D224E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 290088 chr1 109394524 109394524 G A rs9440631 AKNAD1 Nonsynonymous SNV H255Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 9.088 290089 chr1 109444442 109444442 A G rs338489 GPSM2 Synonymous SNV K276K 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign/Likely benign 5.695 290090 chr1 109793798 109793798 C T rs149911274 CELSR2 Nonsynonymous SNV T366M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.24 290091 chr8 144940540 144940540 G A rs56034452 EPPK1 Synonymous SNV G2294G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 290092 chr1 110766477 110766477 A G rs148139999 KCNC4 Nonsynonymous SNV S524G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.96 290093 chr1 111861846 111861846 G A CHIA Synonymous SNV K179K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.487 290094 chr11 102643636 102643636 C A rs139168339 MMP10 Nonsynonymous SNV A390S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.5 290095 chr1 114253066 114253066 C T rs756416661 PHTF1 Nonsynonymous SNV R74Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 290096 chr8 145660454 145660454 C G TONSL Synonymous SNV G984G 0 0 0 2 0 0 0.005 0 0 0 0 0 11.62 290097 chr1 45189826 45189826 G C rs893273483 ARMH1 Nonsynonymous SNV D253H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 290098 chr1 11807525 11807525 G T AGTRAP Nonsynonymous SNV C19F 0 0.003 0 0 0 1 0 0 0 0 0 0 9.158 290099 chr1 11835502 11835502 G A rs144781974 C1orf167 Nonsynonymous SNV A667T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 290100 chr1 119683411 119683411 G A rs750510889 WARS2-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.893 290101 chr1 12429673 12429673 A G VPS13D Nonsynonymous SNV N3550S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.109 290102 chr11 114401031 114401031 A G rs780754796 NXPE1 Synonymous SNV Y91Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 290103 chr2 224822276 224822276 G A MRPL44 Synonymous SNV R29R 0.002 0 0 2 2 0 0.005 0 0 0 0 0 9.601 290104 chr11 117089870 117089870 C T rs139555790 PCSK7 Nonsynonymous SNV R445H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.7 290105 chr11 117100130 117100130 T C PCSK7 Nonsynonymous SNV H144R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.565 290106 chr9 21481331 21481331 T A IFNE Nonsynonymous SNV E121D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 290107 chr1 54610289 54610289 C G rs373663859 CDCP2 Nonsynonymous SNV G93R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 290108 chr9 32493928 32493928 A G rs200048274 DDX58 Nonsynonymous SNV L85P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 290109 chr9 32572983 32572983 G C rs199895242 NDUFB6 Nonsynonymous SNV Q26E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 290110 chr9 34125161 34125161 G C rs780866460 DCAF12 Nonsynonymous SNV R65G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.57 290111 chr6 160484546 160484546 A G IGF2R Nonsynonymous SNV Y1257C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 290112 chr10 28438927 28438927 G A rs376315746 MPP7 Nonsynonymous SNV A73V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 290113 chr9 35735127 35735127 C T rs137928808 CREB3 Nonsynonymous SNV R153C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 290114 chr1 150778434 150778434 C T rs200742781 CTSK Nonsynonymous SNV R101H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.592 290115 chr10 43651234 43651234 T C CSGALNACT2 Nonsynonymous SNV F213L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 290116 chr1 151502541 151502541 G C CGN Nonsynonymous SNV G755R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 290117 chr1 151678728 151678728 C T rs767135072 CELF3 Synonymous SNV Q316Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.32 290118 chr1 151774197 151774197 G A rs146639891 LINGO4 Synonymous SNV L328L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.101 290119 chr1 152084714 152084714 - CTCCTGCTGCTCGCGCCTCTC rs542626610 TCHH E326_R327insERREQQE 0 0.003 0 0 0 1 0 0 0 0 0 0 290120 chr9 75369767 75369767 G A rs759815339 TMC1 Synonymous SNV S236S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.93 290121 chr1 153932660 153932660 C A SLC39A1 Nonsynonymous SNV A297S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.3 290122 chr9 90502398 90502398 C A SPATA31E1 Nonsynonymous SNV A999E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.9 290123 chr1 154920830 154920830 - C PBXIP1 Frameshift insertion E112Gfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 290124 chr9 96015265 96015265 G A rs143979324 WNK2 Synonymous SNV P645P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.632 290125 chr9 96320239 96320239 C T rs150176698 FAM120A Nonsynonymous SNV P871L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 290126 chr10 65024417 65024417 G A rs751790887 JMJD1C Synonymous SNV P147P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.184 290127 chr10 65225718 65225718 A G rs995129886 JMJD1C-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.49 290128 chr10 71010127 71010127 C A HKDC1 Stop gain S551X 0 0 0.007 0 0 0 0 2 0 0 0 0 38 290129 chr11 1272055 1272055 G C rs373476136 MUC5B Nonsynonymous SNV A4649P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.039 290130 chr1 160254896 160254896 C T rs963164666 PEX19 Nonsynonymous SNV G7S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 290131 chr7 27196051 27196051 G A HOXA7 Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 290132 chr9 119094613 119094613 C T rs141535999 PAPPA Nonsynonymous SNV A1088V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 290133 chr7 34125690 34125690 C T rs549887524 BMPER Synonymous SNV Y577Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.152 290134 chr10 96291166 96291166 C T rs754677322 TBC1D12 Synonymous SNV F736F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 290135 chr10 98192670 98192670 G A rs756774672 TLL2 Synonymous SNV A138A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.698 290136 chr1 114515800 114515800 C T rs200630271 HIPK1 Nonsynonymous SNV P706L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 290137 chr1 117504017 117504017 G A rs759675389 PTGFRN Nonsynonymous SNV D456N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.91 290138 chr9 130579317 130579317 G T rs766554238 LOC102723566 0 0 0 1 0 0 0.003 0 0 0 0 0 4.409 290139 chr9 130860970 130860970 C T SLC25A25 Nonsynonymous SNV S42F 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 290140 chr9 131022879 131022879 C A rs552684735 GOLGA2 Nonsynonymous SNV W502C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 290141 chr9 131597786 131597786 A G KYAT1 Nonsynonymous SNV F289S 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 290142 chr9 133936570 133936570 C T rs149626622 LAMC3 Synonymous SNV S769S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.79 290143 chr7 64439555 64439560 TTTGGA - rs753830393 ERV3-1-ZNF117, ZNF117 I130_Q131del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 290144 chr11 108164040 108164040 G A ATM Nonsynonymous SNV V1538I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 290145 chr1 180885437 180885437 C G rs756887517 KIAA1614 Synonymous SNV A66A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.431 290146 chr1 182555476 182555476 T C RNASEL Nonsynonymous SNV K156E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 290147 chr9 139309043 139309043 G T rs143813417 PMPCA Nonsynonymous SNV G59V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 290148 chr7 81386576 81386576 C T rs765155428 HGF Synonymous SNV K137K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 290149 chr9 139925347 139925347 C G FUT7 Nonsynonymous SNV E282Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.2 290150 chr1 186277898 186277898 C T rs780320498 PRG4 Nonsynonymous SNV A882V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.001 290151 chr7 92131342 92131342 C G rs757149759 PEX1 Nonsynonymous SNV D703H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 290152 chr9 140392679 140392679 C T rs147570932 PNPLA7 Synonymous SNV P567P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 290153 chr11 119991353 119991353 G A TRIM29 Stop gain Q225X 0 0 0.007 0 0 0 0 2 0 0 0 0 36 290154 chr7 99621869 99621869 C T rs774416307 ZKSCAN1 Synonymous SNV H173H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 290155 chr11 121177799 121177799 C T rs146322594 SC5D Nonsynonymous SNV P160S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 290156 chr1 197072463 197072463 C A ASPM Nonsynonymous SNV C1973F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.17 290157 chr10 8097750 8097750 G A rs769859105 GATA3 Synonymous SNV P44P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.72 290158 chr10 12209761 12209761 G A rs148632115 NUDT5 Synonymous SNV Y197Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.923 290159 chr11 45275838 45275838 A G rs752163179 SYT13 Nonsynonymous SNV F176S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 290160 chr11 126225426 126225426 G A rs192594750 GSEC 0 0 0.003 0 0 0 0 1 0 0 0 0 7.927 290161 chr11 46898181 46898181 C T rs769803802 LRP4 Synonymous SNV Q1124Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 290162 chr10 24790325 24790325 G C KIAA1217 Nonsynonymous SNV G301R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 290163 chr11 16876527 16876527 C G PLEKHA7 Nonsynonymous SNV S144T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 290164 chr10 30315685 30315685 C T rs372754797 JCAD Nonsynonymous SNV R1131H 0 0 0 2 0 0 0.005 0 0 0 0 0 17.45 290165 chr10 34408624 34408624 G A rs755179845 PARD3 Synonymous SNV S1086S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.84 290166 chr7 103020939 103020939 G A rs191358470 SLC26A5 Synonymous SNV D492D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.95 290167 chr1 216538392 216538392 G T rs766740504 USH2A Synonymous SNV G229G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.034 290168 chr11 31814846 31814846 C T rs762059600 PAX6 Nonsynonymous SNV R391Q 0 0 0.007 0 0 0 0 2 0 0 0 0 11.92 290169 chr10 67829100 67829100 A T rs764029257 CTNNA3 Nonsynonymous SNV C709S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 290170 chr10 68535257 68535257 G T rs751471841 CTNNA3 Nonsynonymous SNV T358N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.69 290171 chr7 117175419 117175419 C T rs775713428 CFTR Nonsynonymous SNV L233F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 290172 chr10 70192040 70192040 C T rs201999986 DNA2 Nonsynonymous SNV R599H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 290173 chr10 72100312 72100312 G A rs201523357 LRRC20 Stop gain R8X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 290174 chr10 72164214 72164214 C G rs3750767 EIF4EBP2 Synonymous SNV T19T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.72 290175 chr20 3719336 3719336 G A rs142744194 HSPA12B Synonymous SNV P5P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 290176 chr10 72300953 72300953 C G rs200658801 PALD1 Synonymous SNV T668T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 290177 chr1 222717196 222717196 G A HHIPL2 Synonymous SNV P219P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 290178 chr10 79569475 79569475 C G rs138734012 DLG5 Nonsynonymous SNV A1493P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.287 290179 chr10 81112121 81112121 T G PPIF Nonsynonymous SNV F154C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 290180 chr10 90490749 90490749 C A rs764977020 LIPK Nonsynonymous SNV P78H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 290181 chr10 97772003 97772003 C T CC2D2B Nonsynonymous SNV T1036I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.64 290182 chr10 97772459 97772459 A C CC2D2B Synonymous SNV I97I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.127 290183 chr1 215792630 215792630 - TAG rs775634223 KCTD3 S627_L628insS 0 0.003 0 0 0 1 0 0 0 0 0 0 290184 chr11 61026477 61026477 T G rs138050046 VWCE Synonymous SNV P846P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.579 290185 chr10 102296283 102296283 A C HIF1AN Nonsynonymous SNV H98P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.08 290186 chr10 103899124 103899124 G C rs146882245 PPRC1 Nonsynonymous SNV A287P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.026 290187 chr1 23291862 23291862 G A rs548559592 LACTBL1 Synonymous SNV I23I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.201 290188 chr1 233120134 233120135 GA - PCNX2 L2110Rfs*64 0 0.003 0 0 0 1 0 0 0 0 0 0 290189 chr1 234601448 234601448 T A rs770689053 TARBP1 Nonsynonymous SNV I419F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 290190 chr10 111629783 111629783 G A rs371473011 XPNPEP1 Synonymous SNV P453P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 290191 chr7 150774308 150774308 G A rs2288648 FASTK Nonsynonymous SNV A295V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 290192 chr7 151860149 151860149 T C rs140626076 KMT2C Nonsynonymous SNV N3505D 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 7.317 290193 chr10 116606422 116606422 A T rs374139357 FAM160B1 Synonymous SNV T501T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 290194 chr1 2426974 2426974 T G PLCH2 Nonsynonymous SNV D573E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 290195 chr11 56058537 56058537 A G OR8H1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 290196 chr11 694966 694992 CCGCCGCCACAGCGGCCGCGGCCGCCA - rs768085739 DEAF1 V19_A27del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 290197 chr11 73429871 73429871 A C rs765709332 RAB6A Nonsynonymous SNV I50S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 290198 chr8 6612656 6612656 T C AGPAT5 Nonsynonymous SNV M277T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 290199 chr1 248059497 248059497 G A rs140094589 OR2W3 Synonymous SNV A203A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.291 290200 chr2 272078 272078 G A rs144561323 ACP1 Synonymous SNV G53G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.04 290201 chr11 59271780 59271780 C T OR4D11 Synonymous SNV I244I 0 0 0.007 0 0 0 0 2 0 0 0 0 8.403 290202 chr1 26488547 26488547 G A FAM110D Stop gain W255X 0 0.003 0 0 0 1 0 0 0 0 0 0 41 290203 chr11 59947385 59947385 T - rs532381110 MS4A6A S96Lfs*11 0 0 0.007 0 0 0 0 2 0 0 0 0 290204 chr11 89911187 89911187 T C NAALAD2 Nonsynonymous SNV I554T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.07 290205 chr11 106579348 106579348 A G rs144365377 GUCY1A2 Synonymous SNV V627V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 290206 chr11 108128246 108128246 T A rs34231402 ATM Nonsynonymous SNV F763L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.81 290207 chr3 196386923 196386923 C T NRROS Synonymous SNV L137L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.703 290208 chr11 62416324 62416324 G C rs774941934 INTS5 Nonsynonymous SNV L410V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 290209 chr11 117186277 117186277 T A BACE1 Nonsynonymous SNV M79L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 290210 chr11 6422898 6422898 C T rs139600801 APBB1 Nonsynonymous SNV R250H 0.001 0 0.014 0 1 0 0 4 0 0 0 0 26.5 290211 chr12 108086841 108086841 C G rs780703367 PWP1 Nonsynonymous SNV A95G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.3 290212 chr11 117985563 117985563 T G TMPRSS4 Nonsynonymous SNV C270W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 290213 chr11 64677542 64677542 G A rs376611090 ATG2A Synonymous SNV T611T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.191 290214 chr12 109684007 109684007 G A ACACB Nonsynonymous SNV M1775I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 290215 chr8 38271283 38271283 G A FGFR1 Nonsynonymous SNV P689S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 290216 chr2 29152489 29152489 C T rs781393971 WDR43 Synonymous SNV H450H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.58 290217 chr1 41976653 41976653 G A rs141844226 HIVEP3 Synonymous SNV S2229S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 290218 chr11 6592448 6592448 - CGCGGA rs758450539 DNHD1 A4572_S4573insDA 0.002 0 0.01 0 2 0 0 3 0 0 0 0 290219 chr8 67940742 67940742 C T PPP1R42 Nonsynonymous SNV G11R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.72 290220 chr12 117718622 117718622 G T NOS1 Synonymous SNV R142R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 290221 chr1 45294960 45294960 G C rs936828240 PTCH2 Nonsynonymous SNV L414V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.92 290222 chr11 68115364 68115364 C T rs375980894 LRP5 Synonymous SNV D47D 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 9.838 290223 chr8 82583237 82583237 G A rs148950764 IMPA1 Nonsynonymous SNV T168I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.47 290224 chr2 44059111 44059111 T C rs933862825 ABCG5 Nonsynonymous SNV Q126R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.33 290225 chr22 24567823 24567823 G T rs148842709 CABIN1 Nonsynonymous SNV R1917L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 290226 chr1 53329718 53329718 C T ZYG11A Synonymous SNV C63C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 290227 chr8 104343654 104343654 C T rs145137978 FZD6 Nonsynonymous SNV L375F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 290228 chr12 2937150 2937150 C T rs77620161 NRIP2 Synonymous SNV V214V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 290229 chr8 110631140 110631140 T C rs770573740 SYBU Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 290230 chr8 118834761 118834761 C T rs201504622 EXT1 Nonsynonymous SNV V454I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.4 290231 chr1 6166757 6166757 C T CHD5 Synonymous SNV P1887P 0 0.003 0 0 0 1 0 0 0 0 0 0 14 290232 chr12 6777025 6777025 C A rs781212918 ZNF384 Nonsynonymous SNV G414V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 290233 chr12 8693376 8693376 T C rs751975777 CLEC4E Synonymous SNV S6S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 290234 chr12 8998038 8998038 T C rs200088686 A2ML1 Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.87 290235 chr22 32121588 32121588 G A PRR14L Synonymous SNV L161L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.787 290236 chr1 67133224 67133224 G A rs201624009 SGIP1 Synonymous SNV P137P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.52 290237 chr4 43032509 43032509 G A rs370629848 GRXCR1 Synonymous SNV T275T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 290238 chr2 85262197 85262197 C G KCMF1 Synonymous SNV P81P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.76 290239 chr4 48381737 48381737 C T SLAIN2 Nonsynonymous SNV P245L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 290240 chr11 93432952 93432952 C G CEP295 Nonsynonymous SNV S1625C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 290241 chr2 88478520 88478520 G A rs141464891 THNSL2 Nonsynonymous SNV G106S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 290242 chr11 8132633 8132633 C T rs575742410 RIC3 Nonsynonymous SNV R59H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 290243 chr2 97357659 97357659 C A rs182279361 FER1L5 Nonsynonymous SNV T1058N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.301 290244 chr12 12022796 12022796 G A ETV6 Nonsynonymous SNV G301E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 290245 chr22 39909712 39909712 C T MIEF1 Nonsynonymous SNV P259L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 290246 chr12 101699804 101699804 T C UTP20 Synonymous SNV F631F 0 0 0.007 0 0 0 0 2 0 0 0 0 5.259 290247 chr22 42032775 42032775 - CA XRCC6 0.001 0 0 0 1 0 0 0 0 0 0 0 290248 chr22 42032776 42032776 - CTTCCTTGACTTGATGCACCTGAAGAAACCTGG XRCC6 0.001 0 0 0 1 0 0 0 0 0 0 0 290249 chr12 104033986 104033986 C T rs149929067 STAB2 Nonsynonymous SNV P331L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.41 290250 chr12 20522796 20522796 T C rs141457914 PDE3A Nonsynonymous SNV V193A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 23.3 290251 chr12 46321149 46321149 C G SCAF11 Nonsynonymous SNV D779H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.026 290252 chr12 107155087 107155087 C T rs201038598 RFX4 Nonsynonymous SNV T589M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 290253 chr12 109679019 109679019 C T rs748877113 ACACB Nonsynonymous SNV T1652I 0 0 0.007 0 0 0 0 2 0 0 0 0 32 290254 chr11 18528424 18528424 G A rs35817606 TSG101 Synonymous SNV S176S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.3 290255 chr22 46677575 46677575 A T TTC38 Nonsynonymous SNV D232V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 290256 chr12 43771186 43771186 T A rs1007608166 ADAMTS20 Nonsynonymous SNV K1659N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 290257 chr2 113955382 113955382 C T rs775659350 PSD4 Nonsynonymous SNV P839L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 290258 chr12 46244703 46244703 G A rs145505205 ARID2 Nonsynonymous SNV A933T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 290259 chr11 26587427 26587427 T - rs775595106 MUC15 K20Nfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 290260 chr4 85419224 85419224 G C rs765440209 NKX6-1 Nonsynonymous SNV S53W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 290261 chr12 113745606 113745606 T C SLC8B1 Nonsynonymous SNV N378S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 290262 chr11 34101201 34101201 C T rs148045328 CAPRIN1 Nonsynonymous SNV R239C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 290263 chr12 52215962 52215962 G C rs140112751 FIGNL2 Nonsynonymous SNV A79G 0.002 0 0 0 2 0 0 0 0 0 0 0 6.443 290264 chr4 95583657 95583657 A G rs114713699 PDLIM5 Nonsynonymous SNV Y232C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.6 290265 chr11 45827381 45827381 G A rs567155861 SLC35C1 Nonsynonymous SNV R10K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.877 290266 chr11 45832628 45832628 C T rs371692301 SLC35C1 Synonymous SNV A279A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.72 290267 chr12 123338647 123338647 G C rs138504921 HIP1R Nonsynonymous SNV R212P 0 0 0.007 0 0 0 0 2 0 0 0 0 33 290268 chr12 130907079 130907079 G A rs140926651 RIMBP2 Nonsynonymous SNV R797W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 290269 chr12 131687328 131687328 C T rs139397384 LINC01257 0 0 0.01 0 0 0 0 3 0 0 0 0 7.888 290270 chr2 11758613 11758613 C T rs766252904 GREB1 Synonymous SNV L1204L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.987 290271 chr12 57884116 57884116 C T rs138776588 MARS1 Nonsynonymous SNV P206L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 290272 chr20 25439076 25439076 C T rs751424137 NINL Synonymous SNV L913L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.565 290273 chr2 131519706 131519706 C T rs996077726 AMER3 Nonsynonymous SNV P21S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.507 290274 chr12 31477890 31477890 G T rs192818854 FLJ13224 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 290275 chr12 89916886 89916886 C T rs947486662 GALNT4, POC1B-GALNT4 Nonsynonymous SNV G481R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 290276 chr20 3211834 3211834 C T rs141426484 SLC4A11 Nonsynonymous SNV A351T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.12 290277 chr2 158115333 158115333 C T GALNT5 Nonsynonymous SNV P247S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.29 290278 chr20 43559178 43559178 G A rs770407127 PABPC1L Synonymous SNV V350V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 290279 chr9 111625500 111625500 C T rs770746389 ACTL7A Nonsynonymous SNV R300C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 290280 chr4 187004241 187004241 G A TLR3 Synonymous SNV K467K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.116 290281 chr11 58477481 58477481 C G rs147885245 GLYAT Nonsynonymous SNV V217L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 290282 chr13 111077187 111077187 C T rs748157227 COL4A2 Nonsynonymous SNV P96L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 290283 chr12 124387518 124387518 G A DNAH10 Nonsynonymous SNV A3107T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 290284 chr12 125441305 125441305 G A rs779259753 DHX37 Synonymous SNV G795G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 290285 chr13 21729290 21729290 - AGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTT SKA3 0 0 0 1 0 0 0.003 0 0 0 0 0 290286 chr9 119625914 119625914 G T rs371946288 ASTN2 Nonsynonymous SNV T612N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 290287 chr9 123527048 123527048 C T rs372136242 FBXW2 Nonsynonymous SNV R385H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 290288 chr20 60990941 60990941 G A rs750362966 RBBP8NL Synonymous SNV L149L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.811 290289 chr11 65321823 65321823 G A rs761888245 LTBP3 Synonymous SNV G120G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 290290 chr12 6638006 6638006 A G rs199672478 NCAPD2 Nonsynonymous SNV N1154S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.85 290291 chr13 23913751 23913751 C T SACS Nonsynonymous SNV V1275M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 290292 chr13 32863794 32863794 T C FRY Nonsynonymous SNV Y2832H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 290293 chr11 65620250 65620250 C T rs768920081 SNX32 Synonymous SNV S354S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.95 290294 chr12 69652459 69652459 C T rs754710391 CPSF6 Nonsynonymous SNV P262S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.43 290295 chr20 61941846 61941846 G A rs952575109 COL20A1 Synonymous SNV R459R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.932 290296 chr12 72335394 72335394 G C TPH2 Nonsynonymous SNV D46H 0 0 0.007 0 0 0 0 2 0 0 0 0 24 290297 chr9 130489283 130489283 T A rs780711400 TTC16 Nonsynonymous SNV M474K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 290298 chr11 66391983 66391983 C T rs754885651 RBM14 Synonymous SNV R212R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 290299 chr11 66392442 66392442 C T rs778180332 RBM14 Synonymous SNV Y365Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.092 290300 chr2 220502337 220502337 C T rs761450606 SLC4A3 Nonsynonymous SNV P884L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 290301 chr12 8757823 8757823 T C rs104894322 AICDA Nonsynonymous SNV M139V 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 25.2 290302 chr9 131767677 131767677 C T rs748942434 NUP188 Synonymous SNV P1535P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 290303 chr11 72408229 72408229 C G rs367648910 ARAP1 Nonsynonymous SNV E683Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 290304 chr21 15596797 15596797 T C RBM11 Nonsynonymous SNV M124T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.844 290305 chr21 16339763 16339763 C A NRIP1 Nonsynonymous SNV A251S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.696 290306 chr11 74800064 74800064 C G rs369166223 OR2AT4 Nonsynonymous SNV R232P 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 290307 chr13 101289849 101289849 C T rs756667046 TMTC4 Synonymous SNV P184P 0 0 0.007 0 0 0 0 2 0 0 0 0 20.3 290308 chr2 233386683 233386683 C G rs547205012 PRSS56 Nonsynonymous SNV P87A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.03 290309 chr11 85375313 85375313 T G rs776856797 CREBZF Nonsynonymous SNV N203H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.692 290310 chr2 234590873 234590873 G A UGT1A7 Nonsynonymous SNV R97H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.875 290311 chr13 103397430 103397430 C G rs373154448 CCDC168 Nonsynonymous SNV E1873Q 0 0 0.007 0 0 0 0 2 0 0 0 0 4.311 290312 chr11 88911771 88911771 G A rs61754365 TYR Nonsynonymous SNV R217Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 17.44 290313 chr11 92569798 92569798 C T rs200639035 FAT3 Nonsynonymous SNV R3385W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 290314 chr21 37416119 37416119 A - SETD4 S288Lfs*26 0 0.003 0 0 0 1 0 0 0 0 0 0 290315 chr11 95595466 95595466 A C MTMR2 Nonsynonymous SNV N109K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 290316 chr2 239007920 239007920 G A rs115142731 UBE2F-SCLY 0 0.003 0 0 0 1 0 0 0 0 0 0 1.333 290317 chr2 239162204 239162204 C T rs75156302 PER2 Synonymous SNV R820R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.004 290318 chr2 232393329 232393331 AGC - NMUR1 C134del 0.001 0 0 0 1 0 0 0 0 0 0 0 290319 chr11 113076868 113076868 G A rs782014259 NCAM1 Synonymous SNV E198E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.07 290320 chr13 42481820 42481820 G A rs142543350 VWA8 Nonsynonymous SNV R129W 0 0 0.007 0 0 0 0 2 0 0 0 0 33 290321 chr14 24567470 24567470 G T rs753234715 PCK2 Nonsynonymous SNV V112L 0.002 0 0 3 2 0 0.008 0 0 0 0 0 24 290322 chr14 24728293 24728293 C T rs121918722 TGM1 Nonsynonymous SNV V383M 0.002 0 0 3 2 0 0.008 0 0 0 0 0 Pathogenic 33 290323 chr2 241451367 241451367 G C rs142973511 ANKMY1 Nonsynonymous SNV Q503E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 290324 chr11 121986522 121986522 T C rs760552540 BLID Nonsynonymous SNV I37V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.833 290325 chr11 123676968 123676968 C T rs568397009 OR6M1 Synonymous SNV V30V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.264 290326 chr2 242814875 242814875 A - rs530164671 RTP5 K390Rfs*93 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 290327 chr11 126137069 126137069 C G SRPRA 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 290328 chr11 128628186 128628186 C T rs186120614 FLI1 Synonymous SNV N65N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.99 290329 chr2 29092682 29092682 C G TRMT61B Synonymous SNV G154G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 290330 chr12 863109 863109 C T WNK1 Synonymous SNV T126T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.942 290331 chr12 6428258 6428258 A G rs759594686 PLEKHG6 Nonsynonymous SNV K471R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 290332 chr12 6959640 6959640 T C rs782009387 CDCA3 Nonsynonymous SNV S4G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.56 290333 chr12 8975825 8975827 AGA - rs774086428 A2ML1 K38del 0 0 0 1 0 0 0.003 0 0 0 0 0 290334 chr14 76905857 76905857 A G rs765192551 ESRRB Nonsynonymous SNV N54S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 290335 chr14 77796125 77796125 C T rs199552988 GSTZ1 Nonsynonymous SNV A108V 0 0.003 0 0 0 1 0 0 0 0 0 0 Affects 26.6 290336 chr14 88904608 88904608 G A SPATA7 Nonsynonymous SNV E516K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 290337 chr14 88945749 88945749 T C rs759626982 PTPN21 Nonsynonymous SNV S676G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.56 290338 chr12 21727126 21727126 C T rs201503558 GYS2 Synonymous SNV G210G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.22 290339 chr12 29496145 29496145 G T rs779902733 ERGIC2 Nonsynonymous SNV S299Y 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 290340 chr12 31106968 31106968 T C rs776586195 TSPAN11 Nonsynonymous SNV Y15H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 290341 chr14 96784164 96784164 G A rs200385687 ATG2B Nonsynonymous SNV P970S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 24.2 290342 chr2 73835702 73835716 GTCAGTGGGTCCTCT - ALMS1 0.001 0 0 0 1 0 0 0 0 0 0 0 290343 chr12 44913839 44913839 G A rs375454779 NELL2 Synonymous SNV T783T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.11 290344 chr14 103804757 103804768 CACCACCACCAC - EIF5 P182_P185del 0 0.003 0 0 0 1 0 0 0 0 0 0 290345 chr15 23811323 23811323 G A rs201431738 MKRN3 Nonsynonymous SNV V132I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.324 290346 chr12 49982267 49982267 T A rs760722128 FAM186B Nonsynonymous SNV H835L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 290347 chr12 50498447 50498447 C T GPD1 Synonymous SNV D44D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.56 290348 chr2 9547677 9547677 G A rs200349700 ITGB1BP1 Synonymous SNV Y100Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 290349 chr15 29418581 29418581 G C rs182444624 FAM189A1 Nonsynonymous SNV P373A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.044 290350 chr12 56995856 56995856 G C rs149132897 BAZ2A Nonsynonymous SNV S1182C 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 26.8 290351 chr12 57435071 57435071 T A rs746106732 MYO1A Nonsynonymous SNV D389V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 290352 chr14 101452442 101452442 C T rs147785484 SNORD114-25 0 0 0.007 0 0 0 0 2 0 0 0 0 3.286 290353 chr14 102717291 102717291 G A rs151048366 MOK Nonsynonymous SNV R45W 0 0 0.007 0 0 0 0 2 0 0 0 0 34 290354 chr14 105420977 105420977 G A rs779902900 AHNAK2 Nonsynonymous SNV R171W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 290355 chr14 21871215 21871215 G A CHD8 Synonymous SNV I1225I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 290356 chr14 24036007 24036007 A G LOC102724814 0 0 0.007 0 0 0 0 2 0 0 0 0 13.34 290357 chr14 24769723 24769723 G A rs766424752 NOP9 Synonymous SNV L119L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.009 290358 chr14 51057698 51057698 A G rs112496709 ATL1 Nonsynonymous SNV T108A 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 15.45 290359 chr14 69813776 69813776 C T rs139322691 GALNT16 Nonsynonymous SNV L431F 0 0 0.007 0 0 0 0 2 0 0 0 0 11.91 290360 chr14 73963365 73963365 C T HEATR4 Nonsynonymous SNV M855I 0 0 0.007 0 0 0 0 2 0 0 0 0 27.2 290361 chr3 52090278 52090278 C G DUSP7 Synonymous SNV S35S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.3 290362 chr14 92922915 92922915 G A rs372011438 SLC24A4 Synonymous SNV P406P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.033 290363 chr14 94844965 94844965 C G rs1802959 SERPINA1 Nonsynonymous SNV A360P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 290364 chr14 95922035 95922035 G A rs201192292 SYNE3 Synonymous SNV G272G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.091 290365 chr14 96953278 96953278 T G AK7 Nonsynonymous SNV L607R 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 25.8 290366 chr15 23890402 23890402 C A MAGEL2 Nonsynonymous SNV A830S 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 290367 chr15 25320914 25320914 G A rs900817110 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.682 290368 chr3 121386425 121386425 G T rs199705671 GOLGB1 Nonsynonymous SNV T3071N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 290369 chr15 43021535 43021535 C T rs766040108 CDAN1 Synonymous SNV S811S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.73 290370 chr15 44091253 44091253 C G rs199871518 SERINC4 Nonsynonymous SNV R121P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 31 290371 chr15 45457077 45457077 C T rs139626200 DUOX1 Nonsynonymous SNV S1545F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 290372 chr3 130307938 130307938 A G rs181841656 COL6A6 Nonsynonymous SNV N1377S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.17 290373 chr15 85175194 85175194 C G rs368149235 SCAND2P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 290374 chr15 85201315 85201315 G A rs372537910 NMB Synonymous SNV G23G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 290375 chr15 91169138 91169138 G A rs759930331 CRTC3 Nonsynonymous SNV D294N 0 0 0.007 0 0 0 0 2 0 0 0 0 15.34 290376 chr15 91548307 91548307 A G rs149121639 VPS33B Nonsynonymous SNV I356T 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 290377 chr3 197585706 197585706 C T rs773238353 LRCH3 Nonsynonymous SNV S549L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 290378 chr16 11785240 11785240 G A TXNDC11 Synonymous SNV S150S 0 0 0.007 0 0 0 0 2 0 0 0 0 2.176 290379 chr16 1484849 1484849 G T CCDC154 Nonsynonymous SNV T566K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 290380 chr16 16208928 16208928 G A rs74985930 ABCC1 Nonsynonymous SNV V1129I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 290381 chr16 23079836 23079836 C T rs142891296 USP31 Nonsynonymous SNV R1197Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 290382 chr16 24358134 24358134 C A rs779398247 CACNG3 Synonymous SNV L97L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 290383 chr16 27772879 27772879 C T rs142583518 KIAA0556 Synonymous SNV P1259P 0 0 0.01 0 0 0 0 3 0 0 0 0 17.15 290384 chr16 2849523 2849523 G A rs769075088 PRSS41 Nonsynonymous SNV R178Q 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.064 290385 chr16 28509768 28509768 C T rs201894432 APOBR Nonsynonymous SNV A1079V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.073 290386 chr4 24578244 24578244 T C rs375366424 DHX15 Synonymous SNV E43E 0 0.003 0 0 0 1 0 0 0 0 0 0 2.017 290387 chr16 30409100 30409100 C T rs752139917 ZNF48 Nonsynonymous SNV P54S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.24 290388 chr16 30970133 30970133 C T SETD1A Synonymous SNV A27A 0 0 0.007 0 0 0 0 2 0 0 0 0 14.21 290389 chr16 31926739 31926739 C T ZNF267 Nonsynonymous SNV T390I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 290390 chr16 3647593 3647593 G A rs139766312 SLX4 Synonymous SNV L490L 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 0.372 290391 chr16 4802892 4802892 C T rs75619376 ZNF500 Nonsynonymous SNV G310S 0 0 0.007 0 0 0 0 2 0 0 0 0 8.709 290392 chr16 48117850 48117850 G A rs147250788 ABCC12 Synonymous SNV C1321C 0 0 0.007 0 0 0 0 2 0 0 0 0 9.027 290393 chr15 45951238 45951238 G A rs774896218 SQOR Synonymous SNV A39A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.429 290394 chr16 67575850 67575850 C T rs977358583 RIPOR1 Synonymous SNV S391S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 290395 chr16 67915958 67915958 G A rs374486323 EDC4 Nonsynonymous SNV A1036T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.23 290396 chr15 63414111 63414111 C A rs767825159 LACTB Nonsynonymous SNV A14D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 290397 chr15 64410339 64410339 G A SNX1 Nonsynonymous SNV D99N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 290398 chr16 735262 735262 T G rs747781138 WDR24 Nonsynonymous SNV T672P 0 0 0.007 0 0 0 0 2 0 0 0 0 17.57 290399 chr16 75146415 75146415 C T LDHD Nonsynonymous SNV A455T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 290400 chr16 85120688 85120688 C T rs576092685 KIAA0513 Nonsynonymous SNV H358Y 0 0 0.007 0 0 0 0 2 0 0 0 0 21.9 290401 chr16 863525 863525 C T PRR25 Synonymous SNV T291T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.54 290402 chr16 88805249 88805249 G T rs754999033 LOC100289580 0 0 0.007 0 0 0 0 2 0 0 0 0 3.885 290403 chr15 99514337 99514337 A C PGPEP1L Synonymous SNV T24T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 290404 chr17 2076132 2076132 C T rs751108862 SMG6 Synonymous SNV S151S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.14 290405 chr17 20884992 20884992 C T LOC339260 0 0 0.007 0 0 0 0 2 0 0 0 0 2.042 290406 chr17 26512255 26512255 T C rs140855665 NLK Synonymous SNV A400A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.479 290407 chr16 133194 133194 G A rs4986985 MPG Synonymous SNV P148P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.07 290408 chr17 26965025 26965025 C T rs200250083 KIAA0100 Nonsynonymous SNV A391T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 290409 chr5 482674 482674 C T rs373713101 SLC9A3 Nonsynonymous SNV V449I 0 0.003 0 0 0 1 0 0 0 0 0 0 24 290410 chr5 1085356 1085356 G A rs377464520 SLC12A7 Nonsynonymous SNV P303L 0 0.003 0 0 0 1 0 0 0 0 0 0 30 290411 chr17 3214017 3214017 G A rs138571752 OR3A4P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.263 290412 chr17 34185937 34185937 G T HEATR9 Nonsynonymous SNV F258L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 290413 chr5 13862825 13862826 TC - DNAH5 D1543Hfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 290414 chr17 36104650 36104650 C A rs144425830 HNF1B Nonsynonymous SNV G76C 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 34 290415 chr5 33963891 33963891 T A rs754221547 SLC45A2 Nonsynonymous SNV M265L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.07 290416 chr17 36962572 36962572 G A rs201865422 CWC25 Stop gain R327X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 290417 chr5 41176707 41176707 A G C6 Synonymous SNV P346P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.881 290418 chr17 39503120 39503120 G A rs542506906 KRT33A Synonymous SNV I284I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 290419 chr16 31091495 31091495 C T rs150156564 ZNF646 Nonsynonymous SNV R1284C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.39 290420 chr16 332732 332732 T C ARHGDIG Nonsynonymous SNV V199A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 290421 chr16 396465 396465 G A rs149775058 AXIN1 Synonymous SNV T187T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.844 290422 chr17 41573562 41573562 A G DHX8 Nonsynonymous SNV N318S 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 290423 chr17 48674121 48674121 G A CACNA1G Nonsynonymous SNV R1009Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 290424 chr17 53045663 53045663 G T rs780993250 COX11 Synonymous SNV P115P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.442 290425 chr17 56540486 56540486 C T HSF5 Nonsynonymous SNV C400Y 0 0 0.007 0 0 0 0 2 0 0 0 0 22 290426 chr17 65714114 65714114 C A NOL11 Synonymous SNV A17A 0 0 0.007 0 0 0 0 2 0 0 0 0 18.02 290427 chr17 68128151 68128151 C A KCNJ16 Nonsynonymous SNV P10T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.636 290428 chr16 76486506 76486506 G A rs144033719 CNTNAP4 Synonymous SNV E262E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.237 290429 chr17 72283141 72283141 A C rs781712279 DNAI2 Nonsynonymous SNV N124T 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 290430 chr5 141050862 141050862 C G ARAP3 Nonsynonymous SNV D654H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.401 290431 chr17 74003573 74003573 C T rs533991705 EVPL Nonsynonymous SNV G1927S 0 0 0.007 0 0 0 0 2 0 0 0 0 33 290432 chr5 141335555 141335555 A G rs765468804 PCDH12 Nonsynonymous SNV I621T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 290433 chr17 79914929 79914929 G C NOTUM Synonymous SNV L239L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.484 290434 chr17 8076795 8076795 T G rs773923180 SNORD118 0 0 0.007 0 0 0 0 2 0 0 0 0 7.814 290435 chr17 8076852 8076852 T A rs117573525 SNORD118 0 0 0.007 0 0 0 0 2 0 0 0 0 9.071 290436 chr18 30517990 30517990 G A rs140642167 CCDC178 Synonymous SNV C825C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.313 290437 chr18 3134744 3134744 T C MYOM1 Nonsynonymous SNV K763R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 290438 chr17 27939718 27939718 G A ANKRD13B Nonsynonymous SNV R487H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 290439 chr6 36106690 36106690 C T rs762188816 MAPK13 Synonymous SNV D292D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.49 290440 chr19 10227513 10227513 C G EIF3G Synonymous SNV L186L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 290441 chr6 42689590 42689590 G A rs76989855 PRPH2 Synonymous SNV I161I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 12.31 290442 chr19 1046332 1046332 G A rs767417118 ABCA7 Nonsynonymous SNV V517M 0 0 0.007 0 0 0 0 2 0 0 0 0 21 290443 chr19 11657517 11657517 C T rs752832081 CNN1 Synonymous SNV S71S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 290444 chr19 13010891 13010891 T G rs189554230 SYCE2 Nonsynonymous SNV K180T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.01 290445 chr19 15565676 15565676 A C RASAL3 Nonsynonymous SNV F584V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 290446 chr6 83831650 83831650 A T DOP1A Synonymous SNV G358G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.93 290447 chr6 83863317 83863317 G A DOP1A Nonsynonymous SNV V2064M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 290448 chr6 106696090 106696090 G T rs147816294 ATG5 Synonymous SNV I46I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 290449 chr6 109867197 109867197 T G rs140622664 AK9 Nonsynonymous SNV K1033T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 290450 chr17 49338123 49338123 G A rs1011153068 UTP18 Nonsynonymous SNV A60T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 4.273 290451 chr19 3600044 3600044 C T rs750819182 TBXA2R Nonsynonymous SNV G197R 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 290452 chr6 135318007 135318007 A G HBS1L Synonymous SNV T249T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.521 290453 chr6 138893035 138893035 C G NHSL1 Nonsynonymous SNV G5A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.04 290454 chr19 36727678 36727678 G A rs764443676 ZNF146 Synonymous SNV K112K 0 0 0.007 0 0 0 0 2 0 0 0 0 8.803 290455 chr19 3760240 3760240 C T rs776734372 APBA3 Nonsynonymous SNV R8Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 290456 chr19 38684365 38684365 G A rs576109096 SIPA1L3 Synonymous SNV P1595P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.914 290457 chr19 39787103 39787103 A - rs544737421 IFNL1 G15Afs*33 0 0 0.007 0 0 0 0 2 0 0 0 0 290458 chr19 39915729 39915729 C T rs765792959 PLEKHG2 Nonsynonymous SNV P1319L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 290459 chr6 159086629 159086629 G A SYTL3 Nonsynonymous SNV V105M 0 0 0 2 0 0 0.005 0 0 0 0 0 23.8 290460 chr6 159057926 159057926 C T rs141047949 DYNLT1 Nonsynonymous SNV S78N 0 0.003 0 0 0 1 0 0 0 0 0 0 23 290461 chr6 159654306 159654306 G C FNDC1 Nonsynonymous SNV R921P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.86 290462 chr6 161560571 161560571 C T rs535322746 AGPAT4 Nonsynonymous SNV V309M 0 0 0 2 0 0 0.005 0 0 0 0 0 8.037 290463 chr17 73819396 73819396 T A UNK Nonsynonymous SNV S690R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 290464 chr17 74475294 74475294 C T rs754289562 RHBDF2 Nonsynonymous SNV R113H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 290465 chr19 45900279 45900279 A C rs201321657 PPP1R13L Nonsynonymous SNV F79C 0.001 0 0.007 0 1 0 0 2 0 0 0 0 23.5 290466 chr7 6456284 6456284 G C rs535864959 DAGLB Synonymous SNV A338A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.207 290467 chr19 49131529 49131529 C T rs142182513 SPHK2 Synonymous SNV H253H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 290468 chr17 79358751 79358751 G A LOC100130370 0 0 0 1 0 0 0.003 0 0 0 0 0 4.623 290469 chr7 43916996 43916996 C G URGCP Nonsynonymous SNV R680P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 290470 chr19 53612785 53612785 A G rs144475671 ZNF415 Synonymous SNV H171H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.542 290471 chr19 53856174 53856174 G A rs773425532 ZNF845 Nonsynonymous SNV C749Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 290472 chr7 47451392 47451392 C T rs898985026 TNS3 Nonsynonymous SNV G219D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 290473 chr7 51095989 51095989 G C COBL Nonsynonymous SNV T935S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 290474 chr19 55817748 55817748 A C BRSK1 Synonymous SNV P673P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.775 290475 chr7 70800585 70800585 A G rs555331182 GALNT17 Synonymous SNV K96K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.719 290476 chr18 34326953 34326953 A C rs149376582 FHOD3 Synonymous SNV R1171R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.946 290477 chr7 82475911 82475911 A T rs760743235 PCLO Nonsynonymous SNV H4601Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.715 290478 chr7 92760917 92760917 A T rs144026608 SAMD9L Nonsynonymous SNV N1456K 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.002 290479 chr19 758359 758359 A G MISP Synonymous SNV S471S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.258 290480 chr18 72114164 72114164 C T DIPK1C Nonsynonymous SNV A185T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 290481 chr1 100380969 100380969 A G rs539403694 AGL Nonsynonymous SNV K1396E 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 290482 chr1 100928418 100928418 C G rs28364884 CDC14A Synonymous SNV A273A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 13.11 290483 chr7 103212699 103212699 T A rs977784275 RELN Nonsynonymous SNV Q1507L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 290484 chr1 11014091 11014091 A G rs112963261 C1orf127 Nonsynonymous SNV F223L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 290485 chr7 131189170 131189170 T A rs751278720 PODXL Nonsynonymous SNV K494M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 290486 chr7 131189171 131189171 T C rs373190298 PODXL Nonsynonymous SNV K494E 0 0 0 1 0 0 0.003 0 0 0 0 0 31 290487 chr7 139281596 139281596 C T rs753515895 HIPK2 Nonsynonymous SNV V835M 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 290488 chr1 1230931 1230931 C T ACAP3 Nonsynonymous SNV G570D 0 0 0.007 0 0 0 0 2 0 0 0 0 6.53 290489 chr1 146639440 146639440 G A rs781976127 PRKAB2 Nonsynonymous SNV R77W 0 0 0.007 0 0 0 0 2 0 0 0 0 31 290490 chr7 151329211 151329211 G C rs201240745 PRKAG2 Nonsynonymous SNV A109G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.25 290491 chr1 15421337 15421337 C T rs904567801 KAZN Synonymous SNV D485D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 290492 chr19 1918213 1918213 T C SCAMP4 Nonsynonymous SNV F31S 0 0 0 2 0 0 0.005 0 0 0 0 0 23 290493 chr1 156616726 156616726 G A BCAN Synonymous SNV P75P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 290494 chr1 160326522 160326522 A C NCSTN Nonsynonymous SNV K453T 0 0 0.007 0 0 0 0 2 0 0 0 0 16.33 290495 chr1 161206315 161206315 C G NR1I3 Nonsynonymous SNV C14S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.6 290496 chr8 22069150 22069150 A T rs779951286 BMP1 Nonsynonymous SNV K957M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 290497 chr1 178854336 178854336 T C rs570619824 RALGPS2 Synonymous SNV L344L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.629 290498 chr1 182992990 182992990 C T LAMC1 Nonsynonymous SNV P47S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 290499 chr8 30553933 30553933 C T GSR Synonymous SNV L253L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 290500 chr8 37699128 37699128 C A rs13267286 ADGRA2 Nonsynonymous SNV A1091D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.348 290501 chr1 19630763 19630763 C G rs771591756 AKR7A2 Nonsynonymous SNV A311P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 290502 chr1 197480977 197480977 C T DENND1B Nonsynonymous SNV D566N 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 290503 chr1 202270037 202270037 G C LGR6 Synonymous SNV L143L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.095 290504 chr1 207110872 207110872 C T rs374913362 PIGR Nonsynonymous SNV V205I 0 0 0.007 0 0 0 0 2 0 0 0 0 0.079 290505 chr1 207760862 207760862 T C rs746742487 CR1 Nonsynonymous SNV S1438P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 290506 chr19 50027909 50027909 C T rs571615644 FCGRT Synonymous SNV F249F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.6 290507 chr19 50285054 50285054 A G rs139190734 AP2A1 Synonymous SNV E36E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 290508 chr8 144332084 144332084 C T rs143068726 ZFP41 Nonsynonymous SNV A24V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 3.373 290509 chr19 50339633 50339633 G A rs762953015 MED25 Nonsynonymous SNV A706T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 4.459 290510 chr8 145541964 145541964 G A rs375092438 DGAT1 Synonymous SNV R212R 0 0.003 0 0 0 1 0 0 0 0 0 0 5.887 290511 chr19 53086185 53086185 T G rs147437579 ZNF701 Nonsynonymous SNV I291M 0 0.003 0 1 0 1 0.003 0 0 0 0 0 5.741 290512 chr9 14619066 14619066 G C rs371719053 ZDHHC21 Synonymous SNV T135T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.573 290513 chr9 35075040 35075040 G A rs138395184 FANCG Nonsynonymous SNV A507V 0 0 0 2 0 0 0.005 0 0 0 0 0 9.304 290514 chr19 54485994 54485999 CGCCCG - rs974472968 CACNG8 A394_P395del 0 0 0 1 0 0 0.003 0 0 0 0 0 290515 chr1 29557305 29557305 G C rs755789151 MECR Synonymous SNV A38A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.16 290516 chr1 32138098 32138098 G C COL16A1 Nonsynonymous SNV D1008E 0 0 0.007 0 0 0 0 2 0 0 0 0 13.68 290517 chr9 37801033 37801033 C G rs1022658292 DCAF10 Nonsynonymous SNV P57R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 290518 chr1 33295580 33295580 G A rs755022850 S100PBP Synonymous SNV T312T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.72 290519 chr1 3422738 3422738 G A rs376836996 MEGF6 Nonsynonymous SNV R618W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 290520 chr1 36883806 36883806 G A rs778532589 OSCP1 Synonymous SNV I358I 0 0 0.007 0 0 0 0 2 0 0 0 0 13.4 290521 chr9 100895488 100895488 C T rs200033483 CORO2A Stop gain W160X 0 0.003 0 0 0 1 0 0 0 0 0 0 42 290522 chr19 58453339 58453339 G C rs761398911 ZNF256 Nonsynonymous SNV S279R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.41 290523 chr9 107548626 107548626 G A rs372885635 ABCA1 Synonymous SNV V2118V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.26 290524 chr1 52498628 52498628 C T rs762348795 KTI12 Nonsynonymous SNV S269N 0 0 0.007 0 0 0 0 2 0 0 0 0 9.653 290525 chr1 67787302 67787302 G A rs775778071 IL12RB2 Nonsynonymous SNV D32N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.052 290526 chr1 75055695 75055695 G A ERICH3 Nonsynonymous SNV A599V 0 0 0.007 0 0 0 0 2 0 0 0 0 5.97 290527 chr9 133768817 133768817 A G QRFP X137R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 290528 chr1 92546244 92546244 C G BTBD8 Nonsynonymous SNV T39R 0 0 0.007 0 0 0 0 2 0 0 0 0 7.866 290529 chr1 94520705 94520705 T C rs143797418 ABCA4 Nonsynonymous SNV Y850C 0 0 0.007 0 0 0 0 2 0 0 0 0 25.4 290530 chr1 94568627 94568627 C T rs61748532 ABCA4 Nonsynonymous SNV G172S 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 23.4 290531 chr19 9087288 9087288 A G MUC16 Synonymous SNV I1509I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.139 290532 chr1 9780009 9780009 C T PIK3CD Synonymous SNV L396L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 290533 chr9 139923311 139923311 G C rs756332139 ABCA2 Nonsynonymous SNV T5R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.926 290534 chr9 139925598 139925598 C T rs200261090 FUT7 Nonsynonymous SNV R198Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.262 290535 chr20 18296374 18296374 C T rs139345328 ZNF133 Synonymous SNV S274S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.658 290536 chr1 1153006 1153006 G A rs747936231 SDF4 Synonymous SNV V325V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.615 290537 chr20 3236798 3236798 G T rs200570338 C20orf194 Nonsynonymous SNV P1039T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 290538 chr20 35060930 35060930 G C rs763627689 DLGAP4 Synonymous SNV P270P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.034 290539 chr10 4875580 4875580 A G AKR1E2 Synonymous SNV T82T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 290540 chr20 35444702 35444702 A G rs368784296 SOGA1 Synonymous SNV S381S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.049 290541 chr20 37394941 37394941 C G rs537247964 ACTR5 Nonsynonymous SNV P452A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 290542 chr1 1222332 1222332 C T rs139397015 SCNN1D Nonsynonymous SNV R366W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 290543 chr10 29813492 29813492 G A rs752643282 SVIL Nonsynonymous SNV A406V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 290544 chr20 49366905 49366905 C T PARD6B Synonymous SNV G333G 0 0 0.007 0 0 0 0 2 0 0 0 0 9.024 290545 chr1 150955603 150955603 A G rs775265271 ANXA9 Nonsynonymous SNV M8V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 290546 chr10 32141478 32141478 T C rs144448237 ARHGAP12 Synonymous SNV A332A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.305 290547 chr10 43613908 43613908 A T rs77724903 RET Nonsynonymous SNV Y537F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 290548 chr1 151734961 151734961 C T rs138606324 MRPL9 Nonsynonymous SNV G109D 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 290549 chr10 26377263 26377263 T C MYO3A Synonymous SNV S497S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.043 290550 chr20 57227038 57227038 A C rs368579447 STX16-NPEPL1 0 0 0.007 0 0 0 0 2 0 0 0 0 13.83 290551 chr20 57769667 57769667 A G rs775593099 ZNF831 Nonsynonymous SNV Q1198R 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 290552 chr20 61472005 61472005 C T rs772818200 COL9A3 Nonsynonymous SNV P659L 0 0 0.007 0 0 0 0 2 0 0 0 0 27.7 290553 chr10 55780164 55780164 C T rs751941551 PCDH15 Nonsynonymous SNV D776N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 290554 chr10 64974535 64974535 C T rs142118527 JMJD1C Synonymous SNV S245S 0 0 0.007 1 0 0 0.003 2 0 0 0 0 Benign 10.43 290555 chr1 157805944 157805944 C T rs143489369 CD5L Synonymous SNV A19A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 290556 chr21 33647160 33647160 G A rs199945277 MIS18A Nonsynonymous SNV R128C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 290557 chr10 73052245 73052245 A G rs111345852 UNC5B Nonsynonymous SNV N558S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 290558 chr21 34925716 34925716 G T rs769227177 SON Nonsynonymous SNV E1393D 0 0 0.007 0 0 0 0 2 0 0 0 0 11.31 290559 chr10 73983690 73983690 A C rs147603657 ANAPC16 Synonymous SNV S6S 0.003 0 0.003 1 3 0 0.003 1 0 0 0 0 6.183 290560 chr21 40792691 40792691 C T rs201082349 LCA5L Nonsynonymous SNV A306T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 290561 chr10 86132148 86132148 A G rs140960423 CCSER2 Nonsynonymous SNV Q447R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.511 290562 chr21 43412989 43412989 G A rs866691451 ZBTB21 Nonsynonymous SNV R406C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 290563 chr10 75557812 75557812 C T rs118026121 ZSWIM8 Synonymous SNV H1307H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 290564 chr21 44192575 44192575 G A rs781366479 PDE9A Synonymous SNV T354T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 290565 chr21 45743688 45743688 C T rs142506467 PFKL Nonsynonymous SNV R513C 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 23.5 290566 chr10 97684565 97684565 G A CC2D2B Synonymous SNV E68E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.822 290567 chr22 17662794 17662794 T C rs376785840 ADA2 Nonsynonymous SNV Y212C 0 0 0.007 0 0 0 0 2 0 0 0 0 Pathogenic 23.8 290568 chr10 106937872 106937872 G A rs117429235 SORCS3 Synonymous SNV S650S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 290569 chr22 24573761 24573761 G A rs145349240 CABIN1 Synonymous SNV S2115S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 290570 chr10 112760204 112760204 G A SHOC2 Synonymous SNV L245L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.712 290571 chr10 115391651 115391651 G A NRAP Synonymous SNV L534L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.299 290572 chr22 26239706 26239706 C T rs748623336 MYO18B Synonymous SNV S1072S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.61 290573 chr22 30762234 30762234 A G rs147104395 CCDC157 Nonsynonymous SNV D82G 0 0 0.007 0 0 0 0 2 0 0 0 0 29.2 290574 chr10 118327261 118327261 G T PNLIP Nonsynonymous SNV S450I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 290575 chr22 31740564 31740564 G A rs117544183 PATZ1 Nonsynonymous SNV P342L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 290576 chr10 121677491 121677491 A G rs750464303 SEC23IP Nonsynonymous SNV H563R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 290577 chr22 39078008 39078008 G A TOMM22 Nonsynonymous SNV G9S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 290578 chr22 41075540 41075540 C A MCHR1 Nonsynonymous SNV P31T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.675 290579 chr22 46704692 46704692 C T rs199893603 GTSE1 Nonsynonymous SNV P205L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 290580 chr11 433422 433422 C T rs758888521 ANO9 Nonsynonymous SNV R81H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 290581 chr2 100020214 100020214 T A REV1 Nonsynonymous SNV D1036V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 290582 chr1 225394776 225394776 A G DNAH14 Nonsynonymous SNV N2098S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 290583 chr1 22987511 22987511 G A rs200457185 C1QB Nonsynonymous SNV V132I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 290584 chr2 160006935 160006935 G A rs753195213 TANC1 Nonsynonymous SNV A149T 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 290585 chr2 179437635 179437635 C T rs371034493 TTN Synonymous SNV G15343G 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 12.7 290586 chr11 5626625 5626625 T C rs202161716 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV I18T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 23.1 290587 chr1 26080050 26080050 G A rs750595580 MAN1C1 Nonsynonymous SNV G304S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.8 290588 chr11 17190720 17190720 G A rs201010550 PIK3C2A Nonsynonymous SNV P190L 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 290589 chr11 20623008 20623008 G C rs750336593 SLC6A5 Nonsynonymous SNV G113R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 290590 chr11 20869250 20869250 G A rs117839762 NELL1 Nonsynonymous SNV A153T 0.003 0 0.003 0 4 0 0 1 0 0 0 0 Benign 25.4 290591 chr2 232389865 232389865 G C rs368328861 NMUR1 Nonsynonymous SNV S390R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 290592 chr11 46722617 46722617 T C ZNF408 Nonsynonymous SNV L7P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.855 290593 chr2 236715907 236715907 A C rs149772875 AGAP1 Nonsynonymous SNV K328Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 290594 chr11 44639723 44639723 C T rs150371864 CD82 Synonymous SNV C125C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.44 290595 chr11 47612244 47612244 - G C1QTNF4 Frameshift insertion L40Pfs*124 0 0 0 1 0 0 0.003 0 0 0 0 0 290596 chr2 238244939 238244939 G A rs36020669 COL6A3 Nonsynonymous SNV A2328V 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 7.64 290597 chr2 238280768 238280768 C T rs770250670 COL6A3 Nonsynonymous SNV A691T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 290598 chr11 46774242 46774242 G T rs139448951 CKAP5 Synonymous SNV L1632L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.216 290599 chr11 47307003 47307003 G T rs751730956 MADD Nonsynonymous SNV A762S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.69 290600 chr11 55371236 55371236 C A rs745842869 OR4C11 Nonsynonymous SNV C205F 0 0.005 0 2 0 2 0.005 0 0 1 0 1 23.5 290601 chr2 36782838 36782838 A C FEZ2 Nonsynonymous SNV Y345D 0 0 0.003 0 0 0 0 1 0 0 0 0 31 290602 chr2 56144941 56144941 C T rs373554215 EFEMP1 Nonsynonymous SNV A126T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 290603 chr2 56419837 56419837 C T CCDC85A Nonsynonymous SNV L168F 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 290604 chr2 73994005 73994005 G A DUSP11 Synonymous SNV C236C 0 0 0.007 0 0 0 0 2 0 0 0 0 10.69 290605 chr3 109050877 109050877 C A DPPA4 Synonymous SNV V8V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.652 290606 chr11 62458570 62458570 C T rs749917957 BSCL2 Nonsynonymous SNV E239K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.14 290607 chr20 31097789 31097789 G A rs577308809 LOC101929698 0 0 0 1 0 0 0.003 0 0 0 0 0 3.673 290608 chr3 124281838 124281838 G A rs374734060 KALRN Nonsynonymous SNV R1693Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 290609 chr11 65404448 65404448 G A rs775821464 PCNX3 Synonymous SNV X2035X 0 0.003 0 0 0 1 0 0 0 0 0 0 9.505 290610 chr20 36641014 36641014 G A rs200453222 TTI1 Nonsynonymous SNV S402F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 290611 chr3 133661597 133661597 T G rs373119870 SLCO2A1 Nonsynonymous SNV S493R 0 0 0.007 0 0 0 0 2 0 0 0 0 21.5 290612 chr3 134226042 134226042 C G CEP63 Nonsynonymous SNV R46G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 290613 chr3 134884881 134884881 G A EPHB1 Nonsynonymous SNV V553I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 290614 chr3 139181114 139181114 C T rs371817821 RBP2 Nonsynonymous SNV R31H 0 0 0.007 0 0 0 0 2 0 0 0 0 35 290615 chr11 75277692 75277692 G A rs749665611 SERPINH1 Nonsynonymous SNV E100K 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 18.62 290616 chr11 101834461 101834461 G T rs148460033 CEP126 Nonsynonymous SNV A899S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.73 290617 chr3 183660526 183660526 C T rs774673907 ABCC5 Nonsynonymous SNV R756Q 0 0 0.007 0 0 0 0 2 0 0 0 0 35 290618 chr3 194081551 194081551 G A rs151104291 LRRC15 Synonymous SNV L74L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.602 290619 chr3 194150893 194150893 G A rs749301094 ATP13A3 Synonymous SNV H895H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 290620 chr11 102993618 102993618 A G rs375299740 DYNC2H1 Nonsynonymous SNV H517R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.941 290621 chr11 108709186 108709186 C T rs138955971 DDX10 Nonsynonymous SNV S660F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 290622 chr11 116633666 116633666 T C rs145389451 BUD13 Synonymous SNV A213A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.105 290623 chr11 116633724 116633724 C T rs144776650 BUD13 Nonsynonymous SNV R194H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 290624 chr11 118403716 118403716 G A rs113919895 TMEM25 Nonsynonymous SNV R52H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 290625 chr11 118772670 118772670 G A rs150552752 BCL9L Synonymous SNV G594G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.416 290626 chr3 47456077 47456077 G A rs765062530 SCAP Synonymous SNV T868T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.03 290627 chr3 47956413 47956413 C T rs774227826 MAP4 Synonymous SNV T631T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.55 290628 chr12 1949913 1949913 A G rs761599320 CACNA2D4 Nonsynonymous SNV I848T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 290629 chr3 49201046 49201046 T C rs144680166 CCDC71 Nonsynonymous SNV Q199R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.78 290630 chr3 49940790 49940790 G C rs140399231 MST1R Nonsynonymous SNV L85V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 290631 chr3 51750006 51750006 C T rs149954328 GRM2 Synonymous SNV I361I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.66 290632 chr3 52831136 52831136 G T rs748770625 ITIH3 Nonsynonymous SNV K134N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.61 290633 chr3 56052949 56052949 C T rs182855851 ERC2 Synonymous SNV A584A 0 0 0.007 0 0 0 0 2 0 0 0 0 9.922 290634 chr12 6437107 6437107 C T rs754245266 PLEKHG6 Synonymous SNV S754S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 290635 chr3 97596637 97596637 C T rs147308479 CRYBG3 Nonsynonymous SNV P2200L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.737 290636 chr3 97600053 97600053 G T rs11918990 CRYBG3 Nonsynonymous SNV R2381L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 290637 chr12 12301952 12301952 C T rs140182370 LRP6 Nonsynonymous SNV D1044N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 290638 chr3 9776405 9776405 G A rs778513683 BRPF1 Nonsynonymous SNV R194Q 0 0 0.007 0 0 0 0 2 0 0 0 0 27.2 290639 chr12 7045895 7045900 CAGCAG - ATN1 Q501_Q502del 0.001 0 0 0 1 0 0 0 0 0 0 0 290640 chr12 13243628 13243628 A G rs376795470 GSG1 Nonsynonymous SNV V58A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 290641 chr22 37471264 37471264 G A rs377027566 TMPRSS6 Nonsynonymous SNV T418M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 290642 chr3 9918778 9918778 G C CIDEC Nonsynonymous SNV A60G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 290643 chr4 104012370 104012370 G A rs368646051 BDH2 Synonymous SNV R107R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.37 290644 chr12 21331536 21331536 A T rs764816711 SLCO1B1 Nonsynonymous SNV M170L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.63 290645 chr22 41921249 41921249 G A ACO2 Nonsynonymous SNV G553E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.86 290646 chr4 110433184 110433184 A T rs201330028 SEC24B Synonymous SNV V581V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.521 290647 chr22 42606035 42606035 G A rs201992648 TCF20 Synonymous SNV G1759G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.802 290648 chr4 121739679 121739679 C T rs781674958 PRDM5 Nonsynonymous SNV R160H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.146 290649 chr4 128941236 128941236 T C rs202204733 ABHD18 Star tloss M77T 0 0 0.007 0 0 0 0 2 0 0 0 0 26.9 290650 chr4 134071973 134071973 C G rs375190136 PCDH10 Synonymous SNV P226P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.87 290651 chr12 48095371 48095371 C T RPAP3 Nonsynonymous SNV R57Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27 290652 chr4 144617122 144617122 A G rs943845142 FREM3 Synonymous SNV D1569D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.045 290653 chr4 155158065 155158065 C T rs376721416 DCHS2 Nonsynonymous SNV R2580H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 290654 chr4 155176755 155176755 T G DCHS2 Nonsynonymous SNV Q2286P 0 0 0.007 0 0 0 0 2 0 0 0 0 12.91 290655 chr4 169305816 169305816 G A rs200084969 DDX60L Stop gain R1355X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 290656 chr2 109408251 109408251 A G rs962024947 CCDC138 Nonsynonymous SNV I124M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.05 290657 chr12 53837278 53837280 TCC - rs545595488 PRR13 P45del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 290658 chr12 51279087 51279087 T C rs182342296 TMPRSS12 Synonymous SNV C237C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.685 290659 chr4 2306329 2306329 G A rs139733691 ZFYVE28 Nonsynonymous SNV R550C 0 0 0.007 0 0 0 0 2 0 0 0 0 13.91 290660 chr12 52115587 52115587 C T SCN8A Synonymous SNV P631P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 290661 chr2 133403002 133403002 G A rs116232245 GPR39 Synonymous SNV A395A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.269 290662 chr12 80933609 80933609 A G rs61729278 PTPRQ Nonsynonymous SNV I842V 0 0 0.007 1 0 0 0.003 2 0 0 1 0 Benign 1.275 290663 chr12 53162724 53162724 T A rs138360142 KRT76 Nonsynonymous SNV S564C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 290664 chr12 58131100 58131100 C T AGAP2 Synonymous SNV A310A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.51 290665 chr12 96906769 96906769 A G rs1045949002 CFAP54 Nonsynonymous SNV I249V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.227 290666 chr2 152406206 152406206 G A rs751724804 NEB Nonsynonymous SNV P4964S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.6 290667 chr2 125521565 125521565 A G CNTNAP5 Nonsynonymous SNV N792D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.4 290668 chr12 54447751 54447751 G A rs201246146 HOXC4 Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 12 290669 chr12 101731909 101731909 C T rs140749743 UTP20 Nonsynonymous SNV A1241V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 290670 chr12 76740373 76740373 T C BBS10 Synonymous SNV S464S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 290671 chr12 103352172 103352177 GCAGCA - ASCL1 Q61_Q62del 0 0 0 1 0 0 0.003 0 0 0 0 0 290672 chr12 55846773 55846773 A G rs73339457 OR6C2 Nonsynonymous SNV K259R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 290673 chr12 104067764 104067765 CT - STAB2 S818Cfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 290674 chr12 80749665 80749665 C T rs1064796988 OTOGL Stop gain R1906X 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 42 290675 chr12 107372188 107372188 G A rs747584151 MTERF2 Nonsynonymous SNV P102L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 290676 chr4 55564560 55564560 G C KIT Nonsynonymous SNV G150R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.07 290677 chr12 56352295 56352295 G C rs778478130 PMEL Nonsynonymous SNV S58C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 290678 chr4 56314968 56314968 G C rs776544790 CLOCK Nonsynonymous SNV P506R 0 0 0.007 0 0 0 0 2 0 0 0 0 14.25 290679 chr12 56716453 56716453 C A rs776019722 PAN2 Synonymous SNV G865G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 290680 chr12 56716941 56716941 A G rs145479039 PAN2 Synonymous SNV L804L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.962 290681 chr12 56749494 56749494 A G rs2066812 STAT2 Synonymous SNV L127L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.864 290682 chr2 165946886 165946886 T C rs199983547 SCN3A Nonsynonymous SNV N1877S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 290683 chr12 57864145 57864145 G A GLI1 Nonsynonymous SNV R413H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 290684 chr12 57864351 57864351 G A GLI1 Nonsynonymous SNV D482N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 290685 chr4 6622967 6622967 C T rs767743522 MAN2B2 Synonymous SNV H944H 0 0 0.007 0 0 0 0 2 0 0 0 0 10.3 290686 chr12 64812754 64812754 - T rs765248788 XPOT Stop gain D127* 0.001 0 0 0 1 0 0 0 0 0 0 0 290687 chr12 120741695 120741695 G A rs201402427 SIRT4 Nonsynonymous SNV V111I 0.001 0 0 2 1 0 0.005 0 0 0 0 0 19.92 290688 chr12 70194016 70194016 C T rs760710736 RAB3IP Stop gain R100X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 290689 chr12 122263143 122263143 C T rs957602870 SETD1B Synonymous SNV D1736D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 290690 chr12 112509809 112509809 C T rs374375519 NAA25 Nonsynonymous SNV R309Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 290691 chr2 179430005 179430005 C T rs371362606 TTN Nonsynonymous SNV V17887I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.232 290692 chr4 79432541 79432541 A G FRAS1 Synonymous SNV G3298G 0 0 0.007 0 0 0 0 2 0 0 0 0 9.486 290693 chr2 179440446 179440446 A G rs764793576 TTN Synonymous SNV I14406I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.436 290694 chr2 179539787 179539787 C T rs879151050 TTN Nonsynonymous SNV E10230K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 290695 chr2 179583568 179583568 G A TTN Nonsynonymous SNV P6876L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.62 290696 chr12 113539814 113539814 G A RASAL1 Nonsynonymous SNV A673V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.82 290697 chr12 124798797 124798797 C T rs116090335 RFLNA, ZNF664-RFLNA Nonsynonymous SNV A126V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.457 290698 chr13 88329309 88329309 A G rs78209359 SLITRK5 Nonsynonymous SNV I556V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 290699 chr4 83891597 83891597 G A rs761144419 LIN54 Synonymous SNV P57P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 290700 chr2 170557842 170557842 G A rs149327414 PHOSPHO2 Nonsynonymous SNV V121M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.3 290701 chr12 132562146 132562146 - CAG rs551658863 EP400 Q3102_P3103insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 290702 chr2 171812972 171812972 G A rs574818608 GORASP2 Synonymous SNV P174P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.54 290703 chr2 172195872 172195872 C G rs41268697 METTL8 Nonsynonymous SNV R98T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.247 290704 chr2 175201161 175201161 G A rs752647941 SP9 Synonymous SNV A116A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 290705 chr2 179417680 179417680 C T rs397517746 TTN Nonsynonymous SNV V20918M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.6 290706 chr2 179587119 179587119 T C rs753744867 TTN Synonymous SNV L6221L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.125 290707 chr5 122359641 122359641 T C rs137956160 PPIC Nonsynonymous SNV N190D 0 0.003 0.007 0 0 1 0 2 0 0 0 0 11.45 290708 chr12 113638502 113638502 G A rs529696774 IQCD Synonymous SNV A282A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.468 290709 chr12 117669878 117669878 G A rs74585703 NOS1 Synonymous SNV A762A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 290710 chr5 126791223 126791223 A G MEGF10 Synonymous SNV K1052K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.75 290711 chr12 120241150 120241150 G A CIT Synonymous SNV T385T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 290712 chr2 20482976 20482976 - GCT rs751611723 PUM2 A428_G429insA 0 0.003 0 0 0 1 0 0 0 0 0 0 290713 chr2 179979859 179979859 G C SESTD1 Nonsynonymous SNV T591R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.53 290714 chr2 207174718 207174718 T C rs746819876 ZDBF2 Synonymous SNV H1822H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.612 290715 chr2 208866081 208866081 A T rs372760618 PLEKHM3 Nonsynonymous SNV F95I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.12 290716 chr13 42874034 42874034 G A rs145830258 AKAP11 Synonymous SNV S384S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.142 290717 chr13 21157097 21157097 A T rs138599693 IFT88 Nonsynonymous SNV E31V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 290718 chr5 139917106 139917106 C T rs374563467 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV A2387V 0 0 0.007 0 0 0 0 2 0 0 0 0 21.1 290719 chr2 190531803 190531803 G A rs765347434 ASNSD1 Synonymous SNV T315T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.518 290720 chr5 140182825 140182825 G C PCDHA3 Nonsynonymous SNV Q681H 0 0 0.007 0 0 0 0 2 0 0 0 0 13.66 290721 chr12 132514393 132514393 C A rs756670852 EP400 Synonymous SNV T1843T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.403 290722 chr12 132633435 132633479 ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC NOC4L D299D 0.001 0 0 0 1 0 0 0 0 0 0 0 290723 chr2 219603082 219603082 C T rs149683573 TTLL4 Nonsynonymous SNV T228M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 290724 chr5 141028853 141028853 G A rs372216012 FCHSD1 Nonsynonymous SNV A133V 0 0 0.007 0 0 0 0 2 0 0 0 0 13.99 290725 chr13 86368420 86368420 G C rs759478977 SLITRK6 Nonsynonymous SNV Q742E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.077 290726 chr2 223159009 223159011 TGA - PAX3 I154del 0 0.003 0 0 0 1 0 0 0 0 0 0 290727 chr13 28830575 28830575 G A PAN3 Nonsynonymous SNV V383I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 290728 chr5 149677695 149677695 C T rs781725394 ARSI Synonymous SNV A264A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.95 290729 chr14 57857831 57857831 C T rs747822839 NAA30 Synonymous SNV G52G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.23 290730 chr2 218750537 218750537 A T rs758410042 TNS1 Nonsynonymous SNV I224N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 290731 chr2 219000056 219000056 C T CXCR2 Synonymous SNV L178L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.949 290732 chr14 20920520 20920520 G T rs148435101 OSGEP Nonsynonymous SNV S68Y 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 6.827 290733 chr5 169031142 169031142 T G rs777240955 SPDL1 Nonsynonymous SNV C583W 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 290734 chr5 17275966 17275966 C T rs146351088 BASP1 Nonsynonymous SNV A214V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 290735 chr2 238973062 238973062 A G rs7597367 SCLY Nonsynonymous SNV K52E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 290736 chr2 239033974 239033974 C T rs73100390 ESPNL Nonsynonymous SNV R351C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.34 290737 chr2 23980649 23980649 T C ATAD2B Synonymous SNV S1234S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.806 290738 chr5 179287186 179287186 G T rs55782074 LOC100996419 0 0 0.003 0 0 0 0 1 0 0 0 0 1.935 290739 chr5 179287207 179287207 - GT rs148609553 LOC100996419 0 0 0.003 0 0 0 0 1 0 0 0 0 290740 chr2 242066491 242066491 A G rs780717258 PASK Synonymous SNV Y613Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 290741 chr5 180047291 180047291 G T rs749199947 FLT4 Synonymous SNV I808I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.896 290742 chr13 102227894 102227894 G A rs755722681 ITGBL1 Nonsynonymous SNV G54R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 290743 chr2 231742168 231742168 G A rs780377757 ITM2C Synonymous SNV T158T 0 0 0 1 0 0 0.003 0 0 0 0 0 13 290744 chr2 242814677 242814677 A G RTP5 Nonsynonymous SNV T324A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.118 290745 chr2 26652507 26652507 A T DRC1 Synonymous SNV T184T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.027 290746 chr2 27260547 27260547 T C rs757548369 TMEM214 Nonsynonymous SNV C332R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 290747 chr5 36049040 36049040 - T UGT3A2 Frameshift insertion T231Nfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 290748 chr13 114434205 114434205 C T rs373437956 GRK1 Synonymous SNV P361P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.06 290749 chr14 53518575 53518575 T C rs375235517 DDHD1 Synonymous SNV K836K 0 0 0 1 0 0 0.003 0 0 0 0 0 2.701 290750 chr14 53619505 53619505 G A rs767690171 DDHD1 Synonymous SNV S104S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.9 290751 chr14 55241682 55241682 G A rs139601106 SAMD4A Synonymous SNV P173P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 4.032 290752 chr2 29366621 29366621 A G CLIP4 Nonsynonymous SNV D232G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 290753 chr2 33572500 33572500 C T LTBP1 Nonsynonymous SNV S940F 0 0.003 0 0 0 1 0 0 0 0 0 0 33 290754 chr2 42275671 42275671 G T rs769233885 PKDCC Nonsynonymous SNV G111V 0 0.003 0.007 0 0 1 0 2 0 0 0 0 20.7 290755 chr14 62242905 62242905 G A SNAPC1 Synonymous SNV K209K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.14 290756 chr2 42530568 42530568 A G rs773538986 EML4 Synonymous SNV E569E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.789 290757 chr14 24897525 24897525 A G rs760268491 CBLN3 Synonymous SNV H129H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.309 290758 chr14 103410810 103410810 C T rs150629546 CDC42BPB Nonsynonymous SNV A1276T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 290759 chr2 47639576 47639576 G A rs751195930 MSH2 Synonymous SNV L223L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.75 290760 chr2 27324289 27324295 GGGGGCA - rs746755622 CGREF1 D268Efs*52 0 0 0 1 0 0 0.003 0 0 0 0 0 290761 chr2 27324297 27324340 CTCCTTCAGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCG - rs772694870 CGREF1 G254Cfs*32 0 0 0 1 0 0 0.003 0 0 0 0 0 290762 chr14 38205196 38205196 A G rs1026546676 TTC6 Nonsynonymous SNV H646R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 290763 chr2 27745372 27745372 C T rs146053779 GCKR Stop gain R540X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 290764 chr14 23874971 23874971 A G rs147397431 MYH6 Synonymous SNV T70T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 290765 chr14 23945568 23945568 A T rs756880145 NGDN Nonsynonymous SNV D222V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 290766 chr14 74349113 74349113 G A rs780212945 PTGR2 Synonymous SNV T260T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.975 290767 chr14 24567546 24567546 C T rs757661188 PCK2 Nonsynonymous SNV P137L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 290768 chr2 64322234 64322234 T C rs768293813 PELI1 Nonsynonymous SNV N287D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 290769 chr5 80559387 80559387 C T rs766110342 CKMT2 Synonymous SNV V364V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 290770 chr14 76232608 76232608 C T rs61741463 TTLL5 Nonsynonymous SNV R638C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.26 290771 chr14 26917552 26917552 C T rs144344947 NOVA1 Synonymous SNV T318T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.675 290772 chr2 7023618 7023618 G A rs372182001 RSAD2 Nonsynonymous SNV V155M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 290773 chr14 78710049 78710049 C T rs756218242 NRXN3 Nonsynonymous SNV R205C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 290774 chr14 37754607 37754607 A G MIPOL1 Nonsynonymous SNV D193G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 290775 chr14 81745070 81745070 C T rs200186191 STON2 Synonymous SNV S195S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 4.045 290776 chr14 94756291 94756291 G A rs570402881 SERPINA10 Nonsynonymous SNV R214W 0 0 0 1 0 0 0.003 0 0 0 0 0 8.266 290777 chr14 95235448 95235448 C A rs149410963 GSC Nonsynonymous SNV Q154H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.6 290778 chr14 101349633 101349633 G A RTL1 Nonsynonymous SNV P498L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 290779 chr14 103148246 103148246 C T rs775741097 RCOR1 Nonsynonymous SNV R126C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 290780 chr14 91338491 91338491 G A rs778900661 RPS6KA5 Nonsynonymous SNV T560I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.39 290781 chr14 104570736 104570736 G T ASPG Synonymous SNV L283L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.15 290782 chr14 105349790 105349790 G A rs551848524 CEP170B Synonymous SNV G262G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.125 290783 chr14 73717735 73717749 CGAGGTGGGGGTGGT - PAPLN R196Afs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 290784 chr6 155775955 155775955 C T rs765286577 NOX3 Nonsynonymous SNV G82E 0 0 0.007 0 0 0 0 2 0 0 0 0 29.5 290785 chr6 158882724 158882724 G A rs774514456 TULP4 Nonsynonymous SNV R330H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 290786 chr15 34078175 34078175 G A rs377341748 RYR3 Nonsynonymous SNV R3194H 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 33 290787 chr14 96991664 96991664 A T rs144220269 PAPOLA Synonymous SNV V89V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.99 290788 chr14 102549896 102549896 G A rs373396614 HSP90AA1 Synonymous SNV I491I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.42 290789 chr3 13438970 13438970 C T rs200406823 NUP210 Nonsynonymous SNV R108H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 290790 chr15 23002934 23002934 T C rs200449827 CYFIP1 Nonsynonymous SNV I788T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.1 290791 chr6 166827416 166827416 C T rs373005161 RPS6KA2 Nonsynonymous SNV V550I 0 0 0.007 0 0 0 0 2 0 0 0 0 20.8 290792 chr14 105353915 105353915 C T rs762791503 CEP170B Synonymous SNV N1043N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.5 290793 chr6 17794509 17794509 T C KIF13A Nonsynonymous SNV K1065E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 290794 chr3 129140328 129140328 T A EFCAB12 Nonsynonymous SNV K123M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 290795 chr6 26406283 26406283 G A rs199781860 BTN3A1 Nonsynonymous SNV V78M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 290796 chr15 33023106 33023106 A G GREM1 Nonsynonymous SNV E72G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 290797 chr6 28217468 28217468 T C ZKSCAN4 Nonsynonymous SNV R35G 0 0 0.007 0 0 0 0 2 0 0 0 0 10.62 290798 chr6 35825142 35825142 T C rs373399874 SRPK1 Nonsynonymous SNV K506E 0 0 0.007 0 0 0 0 2 0 0 0 0 29 290799 chr3 14174047 14174047 G T TMEM43 Stop gain E132X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 290800 chr3 126216984 126216984 G A rs137852795 UROC1 Nonsynonymous SNV R450C 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 35 290801 chr3 142272219 142272219 T C rs756012253 ATR Synonymous SNV V821V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.303 290802 chr15 31362255 31362255 G A rs201162331 TRPM1 Synonymous SNV G103G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 290803 chr3 126735520 126735520 A G rs760325684 PLXNA1 Nonsynonymous SNV I1059V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 290804 chr6 40400441 40400441 C T rs375159497 LRFN2 Nonsynonymous SNV G138S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.34 290805 chr6 4069739 4069739 C T rs150752718 FAM217A Nonsynonymous SNV E240K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 290806 chr3 151129197 151129197 C G MED12L Synonymous SNV P1979P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.01 290807 chr6 42071556 42071556 C T rs80149575 C6orf132 Synonymous SNV G1170G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.52 290808 chr6 42858257 42858257 C T rs199636430 C6orf226 Synonymous SNV A90A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 290809 chr6 43013736 43013736 C T rs138777262 CUL7 Synonymous SNV T1002T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.56 290810 chr6 43015940 43015940 G A rs143128153 CUL7 Synonymous SNV H789H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.64 290811 chr15 74276451 74276451 C T rs141171144 STOML1 Nonsynonymous SNV G292R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 290812 chr15 74315485 74315485 C T rs140050477 PML Nonsynonymous SNV R307C 0 0 0 1 0 0 0.003 0 0 0 0 0 23 290813 chr3 132441135 132441135 G A rs369447363 NPHP3 Nonsynonymous SNV A22V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.6 290814 chr3 133748597 133748597 G A rs201058175 SLCO2A1 Nonsynonymous SNV T17I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.64 290815 chr3 134078284 134078284 G A rs140029062 AMOTL2 Nonsynonymous SNV R707C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 35 290816 chr15 53997280 53997280 T G WDR72 Nonsynonymous SNV K418T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.1 290817 chr15 55731682 55731682 T A rs116339967 DNAAF4 Nonsynonymous SNV K294M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 29.9 290818 chr15 78879033 78879033 T A CHRNA5 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 290819 chr15 65799610 65799610 A G rs559775915 DPP8 Nonsynonymous SNV S115P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 290820 chr3 195956815 195956815 C T rs374374747 SLC51A Synonymous SNV I221I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.356 290821 chr6 52762730 52762730 A C rs144126679 GSTA3 Nonsynonymous SNV Y97D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 290822 chr15 83499454 83499454 C T rs146422343 WHAMM Nonsynonymous SNV A582V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.587 290823 chr15 74628327 74628327 G A rs371578500 CCDC33 Nonsynonymous SNV S734N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.15 290824 chr3 148884822 148884822 C T HPS3 Nonsynonymous SNV S699F 0 0 0 1 0 0 0.003 0 0 0 0 0 34 290825 chr3 186015974 186015974 C T rs369138376 DGKG Synonymous SNV L63L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 290826 chr15 51828907 51828907 G A rs758709476 DMXL2 Synonymous SNV H590H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 290827 chr3 190158113 190158113 C A TMEM207 Nonsynonymous SNV C75F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 290828 chr3 39230086 39230086 T C XIRP1 Nonsynonymous SNV D284G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 290829 chr3 39307598 39307598 C T rs748219184 CX3CR1 Nonsynonymous SNV A135T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 290830 chr15 90347188 90347188 G A ANPEP Synonymous SNV L409L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 290831 chr3 20215867 20215867 A G SGO1 Nonsynonymous SNV C386R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.084 290832 chr15 66850151 66850151 C T rs142700869 LCTL Synonymous SNV E104E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.81 290833 chr15 101566268 101566268 T C rs749048874 LRRK1 Synonymous SNV Y777Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 290834 chr15 68650802 68650802 C G ITGA11 Nonsynonymous SNV Q198H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 290835 chr15 68657117 68657117 G A rs751297273 ITGA11 Synonymous SNV N95N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 290836 chr3 33195340 33195340 G A rs768304916 SUSD5 Nonsynonymous SNV R262W 0 0.003 0 0 0 1 0 0 0 0 0 0 10.21 290837 chr16 717544 717544 G A rs3752492 WDR90 Synonymous SNV T1734T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.303 290838 chr16 727875 727875 C T RHBDL1 Synonymous SNV G240G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.613 290839 chr16 24583092 24583092 C G rs191159591 RBBP6 Nonsynonymous SNV R1535G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 290840 chr3 43381785 43381785 C T rs17075574 SNRK Synonymous SNV I40I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 13.64 290841 chr3 43388819 43388820 TC - rs537132123 SNRK-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 290842 chr3 43389509 43389509 A G rs34730190 SNRK Synonymous SNV P380P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.002 290843 chr16 1570678 1570678 T C rs766242258 IFT140 Nonsynonymous SNV I1195M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.71 290844 chr16 2049912 2049912 G A rs772523816 ZNF598 Synonymous SNV G546G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.669 290845 chr7 11446658 11446658 A G rs61996269 THSD7A Nonsynonymous SNV V1314A 0 0 0.007 2 0 0 0.005 2 0 0 0 0 23.4 290846 chr16 30566619 30566619 G A rs747999329 ZNF764 Nonsynonymous SNV R374W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 290847 chr16 2814575 2814575 C A rs145200443 SRRM2 Nonsynonymous SNV S1349Y 0 0 0 1 0 0 0.003 0 0 0 0 0 15.98 290848 chr16 3071578 3071578 C G TNFRSF12A Synonymous SNV P74P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 290849 chr16 2031001 2031001 C A NOXO1 Nonsynonymous SNV R29L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.622 290850 chr16 2499457 2499457 G A rs201271212 CCNF Nonsynonymous SNV G157R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.555 290851 chr16 3639109 3639109 C A rs139254595 SLX4 Synonymous SNV L1510L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.4 290852 chr16 2983900 2983900 G A FLYWCH1 Nonsynonymous SNV C478Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 290853 chr3 49941015 49941015 A G rs765180725 MST1R Nonsynonymous SNV S10P 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 290854 chr3 50102480 50102480 G C rs765899020 RBM6 Nonsynonymous SNV S346T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.31 290855 chr16 3716025 3716025 A T rs61756351 TRAP1 Nonsynonymous SNV Y391N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 27.9 290856 chr16 3100413 3100413 G A rs774019392 MMP25 Nonsynonymous SNV R176H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 290857 chr3 50333025 50333025 C T rs781828430 HYAL3 Synonymous SNV T3T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.779 290858 chr16 3639183 3639183 T G rs200536796 SLX4 Synonymous SNV R1486R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.127 290859 chr7 141490731 141490731 G A TAS2R5 Nonsynonymous SNV M190I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 290860 chr3 65361558 65361558 G A rs774938423 MAGI1 Nonsynonymous SNV R1020C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 290861 chr16 18863467 18863467 T G rs374464306 SMG1 Synonymous SNV P1658P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.946 290862 chr16 1251710 1251710 G A rs58198225 CACNA1H Synonymous SNV T420T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 290863 chr4 120986834 120986834 T C rs781075650 MAD2L1 Synonymous SNV Q71Q 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 1.418 290864 chr16 23409403 23409403 G A rs748835759 COG7 Synonymous SNV P617P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.242 290865 chr16 23489725 23489725 A T rs773959007 GGA2 Nonsynonymous SNV L419Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 290866 chr16 3254567 3254567 C T rs375366387 OR1F1 Synonymous SNV F107F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.513 290867 chr16 4015893 4015893 G A rs753965030 ADCY9 Synonymous SNV P1315P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.767 290868 chr16 4033312 4033312 C T rs145223924 ADCY9 Nonsynonymous SNV V814M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.236 290869 chr16 57832142 57832142 C A KIFC3 Nonsynonymous SNV R5L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 290870 chr16 57269090 57269090 C G RSPRY1 Synonymous SNV S528S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.7 290871 chr4 170359400 170359400 G A rs188152436 NEK1 Synonymous SNV P769P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.442 290872 chr4 140811064 140811102 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC - rs764203961 MAML3 Q498_Q510del 0 0.003 0 0 0 1 0 0 0 0 0 0 290873 chr4 147560435 147560435 G T POU4F2 Nonsynonymous SNV S48I 0 0.003 0 0 0 1 0 0 0 0 0 0 23 290874 chr16 89293369 89293369 C G rs188008490 ZNF778 Nonsynonymous SNV L197V 0.003 0 0 1 4 0 0.003 0 0 0 0 0 6.198 290875 chr16 19556489 19556489 A G rs972862361 CCP110 Nonsynonymous SNV H887R 0.003 0 0 0 3 0 0 0 0 0 0 0 7.913 290876 chr16 74716558 74716558 C A rs375490660 MLKL Nonsynonymous SNV G316V 0.001 0 0 2 1 0 0.005 0 0 0 0 0 26.3 290877 chr16 50187731 50187731 G A TENT4B Nonsynonymous SNV G67S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 290878 chr4 15689318 15689318 A G rs751473769 FAM200B Nonsynonymous SNV T240A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.645 290879 chr16 66976105 66976105 C T rs774017746 CES2 Nonsynonymous SNV A412V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 290880 chr16 22337241 22337249 GCGAGGAGG - rs754557841 POLR3E G470_E472del 0.001 0 0 0 1 0 0 0 0 0 0 0 290881 chr16 67229796 67229796 - CAGCAGCAG E2F4 S319_N320insSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 290882 chr16 23569301 23569301 C T rs889319334 UBFD1 Nonsynonymous SNV A19V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 290883 chr16 81242110 81242110 T A rs201932311 PKD1L2 Nonsynonymous SNV Y249F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 290884 chr7 7612490 7612490 G C MIOS Nonsynonymous SNV W128C 0 0 0.007 0 0 0 0 2 0 0 0 0 25.7 290885 chr16 82182974 82182974 G A MPHOSPH6 Nonsynonymous SNV A97V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.457 290886 chr16 30680110 30680110 G T FBRS Nonsynonymous SNV A726S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 290887 chr16 30772945 30772945 G A rs531288450 CCDC189 Nonsynonymous SNV T42M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 290888 chr16 72821618 72821618 - CCGCCG ZFHX3 G2613_S2614insGG 0.001 0 0 0 1 0 0 0 0 0 0 0 290889 chr7 86781737 86781737 G T LOC101927420 0 0 0.007 0 0 0 0 2 0 0 0 0 14.87 290890 chr16 84213788 84213788 G A rs750416411 TAF1C Synonymous SNV L185L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.816 290891 chr7 87459200 87459200 G A rs937777757 RUNDC3B Nonsynonymous SNV G360D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 290892 chr16 50744703 50744703 C G rs104895425 NOD2 Nonsynonymous SNV T267S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 290893 chr17 4794368 4794368 C G MINK1 Synonymous SNV S563S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 290894 chr4 187549444 187549444 G A FAT1 Synonymous SNV H1558H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.834 290895 chr16 57467981 57467981 G A rs141071676 CIAPIN1 Synonymous SNV S164S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.102 290896 chr16 57597126 57597126 G A rs114907317 ADGRG5 Synonymous SNV S88S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.923 290897 chr4 48542814 48542814 G A FRYL Stop gain R1951X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 290898 chr4 2306982 2306982 G A rs372656000 ZFYVE28 Nonsynonymous SNV P332L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 290899 chr16 58079302 58079302 G C MMP15 Synonymous SNV A654A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.557 290900 chr8 104337220 104337220 G A FZD6 Nonsynonymous SNV G296S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 290901 chr4 55133783 55133783 C T rs142498442 PDGFRA Synonymous SNV V332V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 11.93 290902 chr16 66918593 66918593 A T PDP2 Nonsynonymous SNV M136L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 290903 chr16 67768822 67768822 C T rs139933784 RANBP10 Nonsynonymous SNV G122S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 290904 chr17 7318920 7318920 C T rs116990598 NLGN2 Synonymous SNV Y376Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.465 290905 chr16 88709859 88709859 G A rs751340079 CYBA Nonsynonymous SNV R164C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 290906 chr4 57777171 57777171 C G rs149829250 REST Nonsynonymous SNV P123A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.36 290907 chr8 11637295 11637295 C G rs763090857 NEIL2 Synonymous SNV P48P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.879 290908 chr8 117887221 117887221 A G rs1009327537 RAD21-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 290909 chr16 70805962 70805962 T G rs75732232 VAC14-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.43 290910 chr17 1399622 1399622 G A rs61729422 INPP5K Synonymous SNV N392N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.003 290911 chr4 40440425 40440425 C T rs371311873 RBM47 Synonymous SNV K162K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.703 290912 chr16 72120683 72120683 C T rs16973703 TXNL4B Synonymous SNV K101K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 290913 chr16 72154044 72154044 C T PMFBP1 Nonsynonymous SNV E780K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.393 290914 chr17 8049277 8049277 C T rs368085743 PER1 Synonymous SNV S739S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 290915 chr16 74946200 74946200 T G rs201735826 WDR59 Nonsynonymous SNV M429L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 290916 chr17 2601321 2601321 C T rs756482834 CLUH Synonymous SNV P610P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.29 290917 chr17 9604683 9604683 C T rs11867472 USP43 Synonymous SNV D559D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.95 290918 chr8 133900269 133900269 C A rs749561307 TG Synonymous SNV L739L 0 0 0.007 0 0 0 0 2 0 0 0 0 4.898 290919 chr17 9604779 9604779 G A rs11867337 USP43 Synonymous SNV R591R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.95 290920 chr16 88783618 88783618 T C rs200506892 PIEZO1 Nonsynonymous SNV K2158R 0 0.003 0 2 0 1 0.005 0 0 0 0 1 12.9 290921 chr16 83999491 83999491 G A rs142452879 OSGIN1 Nonsynonymous SNV R438H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.04 290922 chr8 144358820 144358820 C T GLI4 Nonsynonymous SNV S326F 0 0 0.007 0 0 0 0 2 0 0 0 0 14.59 290923 chr17 4685833 4685833 G A rs779976260 TM4SF5 Synonymous SNV V98V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 290924 chr4 184243565 184243565 A G CLDN24 Synonymous SNV F5F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 290925 chr4 185615675 185615675 - GAA rs753812516 PRIMPOL 0 0 0 1 0 0 0.003 0 0 0 0 0 290926 chr17 4794894 4794894 C T rs775118493 MINK1 Synonymous SNV A608A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.58 290927 chr4 6588759 6588759 G A rs749119168 MAN2B2 Nonsynonymous SNV R143Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 290928 chr17 1631839 1631839 G A WDR81 Nonsynonymous SNV G1196S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 290929 chr17 7286791 7286791 G A rs140926871 TNK1 Synonymous SNV S94S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.588 290930 chr4 2306819 2306819 G A rs201737942 ZFYVE28 Synonymous SNV P386P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.048 290931 chr4 962613 962613 G A rs151196064 DGKQ Nonsynonymous SNV A146V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 290932 chr17 7573961 7573961 C G rs766786605 TP53 Nonsynonymous SNV G224R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.01 290933 chr17 7636473 7636473 A T rs144172284 DNAH2 Synonymous SNV A156A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.384 290934 chr17 7674139 7674139 G A rs146759071 DNAH2 Nonsynonymous SNV R1417H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 290935 chr17 7684081 7684081 C T rs75886914 DNAH2 Nonsynonymous SNV P1995L 0 0 0 1 0 0 0.003 0 0 0 0 0 26 290936 chr17 7909801 7909801 C T rs545271894 GUCY2D Nonsynonymous SNV R383W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.75 290937 chr8 146076052 146076052 G T rs746041202 COMMD5 Nonsynonymous SNV D224E 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 290938 chr8 1513732 1513732 A C rs73671226 DLGAP2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.871 290939 chr16 89776274 89776274 T G VPS9D1 Synonymous SNV L433L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.349 290940 chr17 8387537 8387537 G A rs563167590 MYH10 Synonymous SNV S1667S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 290941 chr8 17849104 17849104 C T rs777036141 PCM1 Nonsynonymous SNV R1474C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 290942 chr4 8233724 8233724 G A rs777423178 SH3TC1 Nonsynonymous SNV R915Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.96 290943 chr17 4443200 4443200 C T MYBBP1A Nonsynonymous SNV S1166N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 290944 chr8 2017396 2017396 G C MYOM2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 290945 chr17 10247271 10247271 C T rs780938617 MYH13 Synonymous SNV S580S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.382 290946 chr17 4692585 4692585 G A rs747867281 GLTPD2 Synonymous SNV Q57Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 290947 chr4 44720373 44720373 T G GNPDA2 Nonsynonymous SNV H60P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 290948 chr17 4892102 4892102 T C rs769214786 INCA1 Nonsynonymous SNV D163G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 290949 chr17 7751859 7751861 CAC - rs773517824 KDM6B T762del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 290950 chr8 24201075 24201075 C T rs149336171 ADAM28 Synonymous SNV C656C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 290951 chr17 17720605 17720605 C G rs145784091 SREBF1 Nonsynonymous SNV S500T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.405 290952 chr4 956928 956928 C G DGKQ Nonsynonymous SNV G629R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 290953 chr8 28633320 28633320 G A INTS9 Synonymous SNV L486L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.14 290954 chr5 1038420 1038420 C T rs550078185 NKD2 Nonsynonymous SNV R430W 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 290955 chr5 1074750 1074750 T C rs148203134 SLC12A7 Synonymous SNV L668L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.401 290956 chr8 42180013 42180016 GTGA - rs773584004 IKBKB 0 0 0.007 0 0 0 0 2 0 0 0 0 290957 chr17 4789840 4789840 C T MINK1 Nonsynonymous SNV R290W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 290958 chr17 5012235 5012235 G A rs149710317 ZNF232 Nonsynonymous SNV P204L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 290959 chr5 125939834 125939834 G A rs562584736 PHAX Synonymous SNV A223A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.62 290960 chr5 127277088 127277088 A G CCDC192 Synonymous SNV P269P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.424 290961 chr8 66753618 66753618 C T PDE7A Synonymous SNV R42R 0 0 0.007 0 0 0 0 2 0 0 0 0 15.96 290962 chr17 32483430 32483430 C T ASIC2 Nonsynonymous SNV R41Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 290963 chr8 90782128 90782128 A T rs56257721 RIPK2 Synonymous SNV S204S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.736 290964 chr17 7534678 7534678 C T rs6258 SHBG Nonsynonymous SNV P185L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 290965 chr5 140012127 140012127 G A rs368732145 CD14 Nonsynonymous SNV R148C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 290966 chr17 32483281 32483281 G A ASIC2 Nonsynonymous SNV L91F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 290967 chr9 110250024 110250024 C G rs745944382 KLF4 Nonsynonymous SNV Q217H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 290968 chr9 110250025 110250025 T G rs780759576 KLF4 Nonsynonymous SNV Q217P 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 290969 chr17 35687272 35687272 G A ACACA Nonsynonymous SNV S60F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 290970 chr5 141050904 141050904 C T ARAP3 Nonsynonymous SNV E640K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.71 290971 chr9 113173706 113173706 T C rs375404237 SVEP1 Synonymous SNV E2095E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.048 290972 chr9 113538072 113538072 T C rs79843573 MUSK Nonsynonymous SNV Y309H 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 10.24 290973 chr17 29761110 29761110 C T rs201291649 RAB11FIP4 Synonymous SNV C102C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.98 290974 chr5 169028300 169028300 T C rs138357939 SPDL1 Synonymous SNV P447P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.084 290975 chr17 41939239 41939239 C G CD300LG Nonsynonymous SNV S320C 0 0 0 1 0 0 0.003 0 0 0 0 0 3.479 290976 chr17 36487042 36487042 G A rs201086495 GPR179 Nonsynonymous SNV R804W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23 290977 chr17 21215473 21215473 G A rs772881322 MAP2K3 Nonsynonymous SNV R236Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 290978 chr5 123984549 123984549 G C rs770644845 ZNF608 Nonsynonymous SNV L510V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 290979 chr17 66890339 66890339 C T rs147411028 ABCA8 Nonsynonymous SNV R964Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.632 290980 chr17 42392355 42392355 C A RUNDC3A Nonsynonymous SNV P203T 0 0 0 1 0 0 0.003 0 0 0 0 0 25 290981 chr17 26851643 26851643 C T FOXN1 Synonymous SNV C82C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.724 290982 chr5 156760396 156760396 A G CYFIP2 Nonsynonymous SNV Y750C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 290983 chr17 72937599 72937599 G A rs765650935 OTOP3 Nonsynonymous SNV R44Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.947 290984 chr5 160061457 160061457 A G rs372932186 ATP10B Nonsynonymous SNV Y401H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 290985 chr9 131107493 131107493 G A SLC27A4 Nonsynonymous SNV R74Q 0 0 0.007 0 0 0 0 2 0 0 0 0 4.024 290986 chr17 51901454 51901454 G A rs200029582 KIF2B Nonsynonymous SNV G354R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 290987 chr5 16670877 16670877 G A rs759162257 MYO10 Nonsynonymous SNV R1881W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 290988 chr17 34894133 34894133 T C PIGW Synonymous SNV L395L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 290989 chr17 42475860 42475860 T G rs761409732 GPATCH8 Synonymous SNV S1117S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.844 290990 chr9 13431237 13431237 G T LINC01235 0 0 0.007 0 0 0 0 2 0 0 0 0 12.36 290991 chr17 60059975 60059975 A G rs763070657 MED13 Nonsynonymous SNV M1130T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.46 290992 chr17 38172027 38172027 A G rs759275428 CSF3 Nonsynonymous SNV S42G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 290993 chr5 176305027 176305027 G A rs146118770 UNC5A Nonsynonymous SNV A590T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 290994 chr17 48183466 48183466 G A rs757082300 PDK2 Nonsynonymous SNV G184S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.302 290995 chr17 61498191 61498191 C T rs561314584 TANC2 Synonymous SNV N1616N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.406 290996 chr5 34936343 34936343 T C rs752188838 DNAJC21 Nonsynonymous SNV F137S 0 0.003 0 0 0 1 0 0 0 0 0 0 31 290997 chr17 58137269 58137269 G A rs779664014 HEATR6 Synonymous SNV T535T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 290998 chr5 162943531 162943531 T C rs371182015 MAT2B Synonymous SNV A178A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.035 290999 chr17 60768392 60768392 C G rs753363212 MRC2 Nonsynonymous SNV S1365R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 291000 chr9 33367558 33367558 A G rs147558152 NFX1 Synonymous SNV E1078E 0 0 0.007 1 0 0 0.003 2 0 0 0 0 9.069 291001 chr17 42478705 42478705 C T rs766494857 GPATCH8 Nonsynonymous SNV C169Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.386 291002 chr9 34627738 34627738 - A rs776818763 ARID3C Frameshift insertion G92Wfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 291003 chr9 37305685 37305685 T C rs367931088 ZCCHC7 Nonsynonymous SNV C309R 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 291004 chr9 37541220 37541220 G A rs375451949 FBXO10 Synonymous SNV L182L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.484 291005 chr5 5460995 5460995 C T rs200502665 ICE1 Synonymous SNV S516S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.299 291006 chr9 5072560 5072560 C T rs146433914 JAK2 Synonymous SNV Y421Y 0 0 0.007 0 0 0 0 2 0 0 0 0 12.82 291007 chr9 5742948 5742948 C T rs375672479 RIC1 Synonymous SNV Y327Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.16 291008 chr5 55195862 55195862 A G IL31RA Nonsynonymous SNV H305R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.02 291009 chr18 13029733 13029733 T G CEP192 Nonsynonymous SNV F374L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.17 291010 chr18 19057150 19057150 A G rs948043338 GREB1L Nonsynonymous SNV S797G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.397 291011 chr18 21353602 21353602 C T rs187997925 LAMA3 Stop gain R442X 0.001 0 0 0 1 0 0 0 0 0 0 0 1.915 291012 chr9 77354645 77354645 G A rs150963618 TRPM6 Synonymous SNV C1822C 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 10.84 291013 chr9 79968362 79968362 T C rs141138349 VPS13A Nonsynonymous SNV I2447T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 291014 chr5 70855936 70855936 G A rs772874190 BDP1 Nonsynonymous SNV M2456I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.027 291015 chr17 79918737 79918737 C T NOTUM Nonsynonymous SNV A17T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.35 291016 chr17 74388056 74388056 G A rs143045605 UBE2O Synonymous SNV L1029L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.579 291017 chr17 79987508 79987508 G A LRRC45 Synonymous SNV E497E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 291018 chr9 94519783 94519783 C T rs141093530 ROR2 Synonymous SNV T78T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.99 291019 chr9 96312943 96312943 C T FAM120A Synonymous SNV L747L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 291020 chr18 216486 216486 C T rs755407022 THOC1 Synonymous SNV P534P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.71 291021 chrM 980 980 A G RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 291022 chr18 46284620 46284620 G C rs778137644 CTIF Synonymous SNV P305P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.021 291023 chr18 47917498 47917498 A C rs777302847 SKA1 Nonsynonymous SNV M152L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 291024 chr17 78215575 78215575 - A SLC26A11 Frameshift insertion N332Efs*2 0.003 0 0 0 3 0 0 0 0 0 0 0 291025 chr18 5891100 5891100 G C rs757049935 TMEM200C Synonymous SNV A321A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.973 291026 chrX 123518176 123518176 C T TENM1 Nonsynonymous SNV R2195Q 0 0 0.007 0 0 0 0 2 0 0 1 0 25.4 291027 chr18 6870667 6870667 C T rs765768815 ARHGAP28 Nonsynonymous SNV T138M 0 0 0 2 0 0 0.005 0 0 0 0 0 33 291028 chr5 52177743 52177743 G A rs16880415 ITGA1 Synonymous SNV E221E 0.001 0 0.003 2 1 0 0.005 1 0 0 0 1 Benign 11.55 291029 chr18 12699196 12699196 A G rs763465512 CEP76 Nonsynonymous SNV I101T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 291030 chr17 72368080 72368080 G A rs200901965 GPR142 Nonsynonymous SNV A156T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 291031 chrX 153171522 153171522 G A rs782108263 AVPR2 Nonsynonymous SNV G188R 0 0 0.007 0 0 0 0 2 0 0 1 0 24.1 291032 chr17 72740457 72740457 C A rs200513132 RAB37 Nonsynonymous SNV T89N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 291033 chr5 64883217 64883217 C G rs1024899432 PPWD1 Synonymous SNV V489V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 291034 chr5 98109866 98109866 - GCT rs775988342 RGMB L37_F38insL 0 0.003 0 0 0 1 0 0 0 0 0 0 291035 chr18 8819075 8819075 A G rs201332575 MTCL1 Nonsynonymous SNV M992V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 291036 chr18 11897044 11897044 A G MPPE1 Nonsynonymous SNV F74L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 291037 chr18 44757357 44757357 C T SKOR2 Nonsynonymous SNV E923K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 291038 chr18 21115579 21115579 G A rs151125564 NPC1 Synonymous SNV L1111L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.73 291039 chr6 110428355 110428355 C A WASF1 Synonymous SNV S155S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.44 291040 chr18 13092391 13092391 A G rs144106581 CEP192 Nonsynonymous SNV Q2040R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 291041 chr18 47792718 47792718 T C rs180778332 CFAP53 Synonymous SNV K19K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 4.583 291042 chr6 111696345 111696345 T C rs758961389 REV3L Synonymous SNV K1071K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 291043 chr18 19751285 19751285 C T GATA6 Synonymous SNV C60C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.68 291044 chr5 79739103 79739103 G C ZFYVE16 Nonsynonymous SNV G861R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 291045 chr18 52895563 52895563 G A TCF4 Synonymous SNV L477L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 291046 chr5 79952345 79952345 A T rs372970933 MSH3 Nonsynonymous SNV N118I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.1 291047 chr10 105181262 105181262 T G rs560537901 PDCD11 Nonsynonymous SNV L812R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 291048 chr18 28986204 28986204 G A rs201170903 DSG4 Nonsynonymous SNV A601T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.013 291049 chr10 105781447 105781447 C G rs142839532 SLK Nonsynonymous SNV Q1142E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 291050 chr18 59898499 59898499 C T rs147870131 RELCH Synonymous SNV Y507Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.643 291051 chr5 89948228 89948228 C G rs147062294 ADGRV1 Nonsynonymous SNV S1161C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 24.5 291052 chr18 60645653 60645653 C T rs770195769 PHLPP1 Synonymous SNV S1381S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.912 291053 chr18 34310641 34310641 C T rs778956050 FHOD3 Synonymous SNV I958I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.13 291054 chr10 114925675 114925675 T C rs147841431 TCF7L2 Nonsynonymous SNV S562P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.941 291055 chr18 43675045 43675045 G A ATP5F1A Nonsynonymous SNV A38V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 291056 chr18 43490580 43490580 G A rs368438786 EPG5 Nonsynonymous SNV R1371C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 291057 chr10 115534684 115534684 A C PLEKHS1 Nonsynonymous SNV Q205H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.45 291058 chr6 134492301 134492301 G C rs780434638 SGK1 Nonsynonymous SNV R256G 0 0.003 0 0 0 1 0 0 0 0 0 0 29 291059 chr17 79852493 79852493 C T ANAPC11 Nonsynonymous SNV P28S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.407 291060 chr19 4216909 4216909 - AA rs763157742 ANKRD24 Frameshift insertion E585Kfs*114 0.001 0 0 0 1 0 0 0 0 0 0 0 291061 chr19 4216910 4216910 - GCCACGGGAGCCA rs764084883 ANKRD24 Frameshift insertion E585Gfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 291062 chr6 143094346 143094346 T C rs756736171 HIVEP2 Synonymous SNV S510S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.002 291063 chr18 5416002 5416002 G A rs150101312 EPB41L3 Nonsynonymous SNV R628C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 291064 chr6 150719240 150719240 G C IYD Nonsynonymous SNV R164P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.995 291065 chr19 917549 917549 C T rs756986700 KISS1R Nonsynonymous SNV P16L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.373 291066 chr18 9945005 9945005 A G rs200416962 VAPA Nonsynonymous SNV T168A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.835 291067 chr6 157528926 157528926 G A rs749057713 ARID1B Synonymous SNV L1507L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.58 291068 chr6 25966903 25966903 A G TRIM38 Synonymous SNV Q51Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 291069 chr10 135086478 135086478 C G rs766283826 ADAM8 Nonsynonymous SNV V168L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 291070 chr6 13592030 13592030 C T rs199938759 SIRT5 Nonsynonymous SNV R19W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 291071 chr19 2810455 2810455 G A rs774848781 THOP1 Nonsynonymous SNV E537K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 291072 chr19 3543266 3543272 GCCACCA - C19orf71 P41Sfs*25 0.001 0 0 1 1 0 0.003 0 0 0 0 0 291073 chr6 168461456 168461456 G A FRMD1 Nonsynonymous SNV R375C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 291074 chr19 3753796 3753796 G A APBA3 Synonymous SNV Y326Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.072 291075 chr10 26562579 26562579 G A rs8190729 GAD2 Synonymous SNV G369G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.344 291076 chr19 9067856 9067856 T A MUC16 Nonsynonymous SNV L6530F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.311 291077 chr19 4510965 4510965 C T rs754278167 PLIN4 Nonsynonymous SNV G1003S 0 0 0 1 0 0 0.003 0 0 0 0 0 13 291078 chr19 2877393 2877393 G T rs35499960 ZNF556 Nonsynonymous SNV R145L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.645 291079 chr19 2878238 2878238 G A rs35494032 ZNF556 Nonsynonymous SNV E427K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.606 291080 chr10 43615072 43615072 G C rs943720843 RET Nonsynonymous SNV S575T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.03 291081 chr6 26124730 26124730 C T rs761721525 H2AC6 Synonymous SNV N90N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.66 291082 chr6 27278352 27278352 A T POM121L2 Nonsynonymous SNV M533K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.983 291083 chr19 6707118 6707118 G C rs765224315 C3 Nonsynonymous SNV H738Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.007 291084 chr19 7075116 7075116 G A rs376290684 ZNF557 Nonsynonymous SNV A11T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 291085 chr19 7809008 7809008 G T rs148485547 CD209 Stop gain S197X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 291086 chr18 67864923 67864923 C G rs201538332 RTTN Nonsynonymous SNV L210F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 291087 chr19 3941117 3941117 C T rs142587749 NMRK2 Synonymous SNV H153H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.34 291088 chr6 37186388 37186388 C G rs376098302 TMEM217 Nonsynonymous SNV C140S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.76 291089 chr6 38942263 38942263 G T rs142315396 DNAH8 Nonsynonymous SNV K4047N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 291090 chr19 4333731 4333731 T G STAP2 Nonsynonymous SNV H86P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 291091 chr6 39867968 39867968 A G rs201309255 DAAM2 Nonsynonymous SNV N932S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.031 291092 chr6 4069615 4069615 G A rs142918785 FAM217A Nonsynonymous SNV T281I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.2 291093 chr19 4538506 4538506 T A rs755529271 LRG1 Stop gain K164X 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 291094 chr10 70497604 70497604 A G rs370283803 CCAR1 Synonymous SNV Q83Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 291095 chr6 41903835 41903835 C T rs767328984 CCND3 Nonsynonymous SNV R169Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 291096 chr10 72083722 72083749 GAGGTGCTGCAGGGCACTGACCTCGCTG - rs750085807 LRRC20 S41Rfs*34 0 0 0.003 0 0 0 0 1 0 0 0 0 291097 chr6 64431138 64431138 T C rs201690244 EYS Nonsynonymous SNV D2930G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.424 291098 chr6 74161727 74161727 G T CGAS Synonymous SNV R60R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.613 291099 chr19 1272127 1272127 C G rs776861085 CIRBP Nonsynonymous SNV S193R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.76 291100 chr19 2276185 2276185 G A rs371491982 PEAK3 Nonsynonymous SNV R306W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 291101 chr6 63990415 63990415 T A rs34699811 LGSN Nonsynonymous SNV D207V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.581 291102 chr10 99129942 99129942 G C rs146889671 RRP12 Nonsynonymous SNV L827V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 291103 chr19 12807021 12807021 T C rs371715059 FBXW9 Synonymous SNV L125L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.165 291104 chr19 12989294 12989294 T C rs16978744 DNASE2 Nonsynonymous SNV H204R 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.007 291105 chr19 12996150 12996150 C A rs377567042 KLF1 Synonymous SNV A298A 0 0 0 1 0 0 0.003 0 0 0 0 0 23 291106 chr6 76357456 76357456 C T rs372502636 SENP6 Synonymous SNV Y156Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 291107 chr6 42018326 42018326 T C rs368364449 TAF8 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 291108 chr6 7727672 7727672 C A BMP6 Nonsynonymous SNV P162T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.585 291109 chr19 11508167 11508167 C T rs201346905 RGL3 Nonsynonymous SNV R618H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 291110 chr19 15383896 15383896 G A rs147477529 BRD4 Synonymous SNV S5S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 291111 chr19 11224419 11224419 G A rs28942080 LDLR Nonsynonymous SNV V355M 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 29.9 291112 chr19 36575644 36575644 C T rs756313871 WDR62 Nonsynonymous SNV T547M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 32 291113 chr19 8316092 8316092 C T rs149877914 CERS4 Synonymous SNV P44P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 291114 chr19 17312783 17312783 G A rs770525821 MYO9B Nonsynonymous SNV E1538K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 291115 chr11 113212566 113212566 T A TTC12 Nonsynonymous SNV S277T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.329 291116 chr11 117395655 117395655 C G rs148686534 DSCAML1 Nonsynonymous SNV A268P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 291117 chr19 15563583 15563583 T C rs776491854 RASAL3 Nonsynonymous SNV Q905R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 291118 chr19 17948811 17948811 A G JAK3 Nonsynonymous SNV V544A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 2.736 291119 chr7 122821111 122821111 C T rs138275989 SLC13A1 Stop gain W48X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 291120 chr19 19243265 19243265 C T rs778386226 TMEM161A Synonymous SNV S113S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.13 291121 chr19 9071167 9071167 C T rs200287868 MUC16 Nonsynonymous SNV V5427I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.9 291122 chr19 41292827 41292827 C T rs752833331 RAB4B Nonsynonymous SNV R201W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 291123 chr7 100683178 100683180 TGG - rs780350054 MUC17 G2828del 0 0.003 0 0 0 1 0 0 0 0 0 0 291124 chr7 100683183 100683184 CC - rs749685696 MUC17 L2830Ffs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 291125 chr7 100683464 100683464 C T rs749975162 MUC17 Nonsynonymous SNV P2923S 0 0.003 0 0 0 1 0 0 0 0 0 0 13 291126 chr7 100683465 100683465 C A rs757882785 MUC17 Nonsynonymous SNV P2923H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 291127 chr7 100683474 100683474 T G rs746632962 MUC17 Nonsynonymous SNV V2926G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 291128 chr7 100683478 100683478 T C rs778144943 MUC17 Synonymous SNV S2927S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.083 291129 chr7 102574588 102574588 G C rs367824936 LRRC17 Synonymous SNV L76L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.086 291130 chr7 102937947 102937947 - GCG rs749420052 PMPCB R17_L18insR 0 0.003 0 0 0 1 0 0 0 0 0 0 291131 chr7 135258437 135258437 A C rs1013292017 NUP205 Nonsynonymous SNV K69N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 291132 chr19 10670091 10670091 C T rs113565782 KRI1 Nonsynonymous SNV E380K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 291133 chr19 33608926 33608926 G A rs760787927 GPATCH1 Nonsynonymous SNV E798K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.12 291134 chr19 34003548 34003548 C T rs199892951 PEPD Nonsynonymous SNV G51E 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 291135 chr19 11304245 11304245 T C rs765257924 KANK2 Nonsynonymous SNV S171G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 291136 chr19 35260341 35260341 G C rs372915534 ZNF599 Synonymous SNV V46V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.596 291137 chr7 117400630 117400630 T C CTTNBP2 Nonsynonymous SNV K993E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 291138 chr19 38189150 38189150 A C rs149055339 ZNF607 Nonsynonymous SNV C627G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 291139 chr19 12460697 12460697 C T rs150152603 ZNF442 Nonsynonymous SNV G499R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 291140 chr19 13888885 13888885 G A rs374927355 C19orf53 Nonsynonymous SNV R58Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29 291141 chr19 46521644 46521644 A G CCDC61 Synonymous SNV X513X 0.001 0 0 0 1 0 0 0 0 0 0 0 1.747 291142 chr19 36223292 36223292 G A rs749284326 KMT2B Nonsynonymous SNV V1948I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.341 291143 chr19 36234734 36234734 A T U2AF1L4 Nonsynonymous SNV L146H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 291144 chr19 23927377 23927377 A G rs140925915 ZNF681 Synonymous SNV L325L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.086 291145 chr19 24106254 24106254 C G rs557853798 ZNF726 Nonsynonymous SNV H82Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.4 291146 chr7 150069765 150069765 C T REPIN1 Nonsynonymous SNV R479C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 291147 chr11 2436475 2436475 C T rs377695084 TRPM5 Nonsynonymous SNV R452Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 291148 chr19 49216572 49216588 AGATAAGTCAGCGGAGA - MAMSTR Stop gain F227* 0.001 0 0 0 1 0 0 0 0 0 0 0 291149 chr7 150389763 150389763 A C rs754733684 GIMAP2 Nonsynonymous SNV K130T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 291150 chr7 150905131 150905131 G T H2BE1 Nonsynonymous SNV D94E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.336 291151 chr7 141536922 141536922 C T rs766210306 PRSS37 Nonsynonymous SNV R186Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 291152 chr7 142564675 142564675 C T rs151016022 EPHB6 Synonymous SNV S241S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 291153 chr19 17212814 17212814 A G rs201097688 MYO9B Nonsynonymous SNV Q96R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 291154 chr19 44470733 44470733 A C rs1053118943 ZNF221 Nonsynonymous SNV H360P 0 0 0 1 0 0 0.003 0 0 0 0 0 23 291155 chr19 50163079 50163079 C T IRF3 Nonsynonymous SNV V376M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 291156 chr7 143094434 143094434 C T rs542197026 EPHA1 Synonymous SNV Q578Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.747 291157 chr19 44611727 44611727 T C rs986774252 ZNF224 Synonymous SNV L472L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.28 291158 chr7 150878420 150878420 C T ASB10 Nonsynonymous SNV R237Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 291159 chr19 18542493 18542493 C T rs748161086 SSBP4 Nonsynonymous SNV P136S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 291160 chr7 151843784 151843784 A C rs142657994 KMT2C Nonsynonymous SNV V4644G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 291161 chr19 18778879 18778879 C T rs79044993 KLHL26 Synonymous SNV I253I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.493 291162 chr19 18779728 18779728 C T rs73533829 KLHL26 Synonymous SNV G536G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 291163 chr19 18958562 18958562 A T rs73526913 UPF1 Synonymous SNV G127G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.051 291164 chr19 19136299 19136299 T C rs34471092 SUGP2 Synonymous SNV P286P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.33 291165 chr19 19232360 19232360 G A rs35101167 TMEM161A Synonymous SNV T155T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 291166 chr19 44771266 44771266 C T rs372376631 ZNF233 Synonymous SNV S130S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 3.473 291167 chr19 20215049 20215049 G A rs782357393 ZNF90 Nonsynonymous SNV G2E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 291168 chr19 20727659 20727659 C T rs146779645 ZNF737 Synonymous SNV E450E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 291169 chr19 20728770 20728770 T C rs61742876 ZNF737 Nonsynonymous SNV H80R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 291170 chr19 45015191 45015191 C T rs372851437 CEACAM20 Nonsynonymous SNV R440H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.783 291171 chr19 45206932 45206932 C T rs753166718 CEACAM16 Synonymous SNV T117T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 291172 chr7 133943062 133943062 G C LRGUK Nonsynonymous SNV W751S 0.001 0.003 0.003 1 1 1 0.003 1 0 0 0 0 19.68 291173 chr19 45912597 45912597 G A rs143359960 CD3EAP Synonymous SNV P459P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.402 291174 chr19 46387347 46387347 G A IRF2BP1 Synonymous SNV A562A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.679 291175 chr11 490429 490429 A C rs771103969 PTDSS2 Synonymous SNV T228T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 291176 chr19 33229824 33229824 G A rs377114275 TDRD12 Synonymous SNV T82T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.087 291177 chr19 42910367 42910367 T C rs988295406 LIPE Nonsynonymous SNV M771V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 291178 chr19 47126716 47126716 G A rs202141474 PTGIR Nonsynonymous SNV T256M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.97 291179 chr19 44377613 44377613 C T rs144201116 ZNF404 Synonymous SNV T248T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.982 291180 chr19 36211685 36211685 G A KMT2B Nonsynonymous SNV R479Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 291181 chr7 4839385 4839385 C T rs554698441 RADIL Nonsynonymous SNV A1000T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.891 291182 chr19 50156783 50156783 C T rs775188545 SCAF1 Nonsynonymous SNV T1046M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 291183 chr19 50172110 50172110 C A BCL2L12 Nonsynonymous SNV P121H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 291184 chr7 5530966 5530966 G A rs199543674 FBXL18 Synonymous SNV A632A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.858 291185 chr19 52496650 52496650 C T rs147205148 ZNF615 Nonsynonymous SNV R565H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 291186 chr19 47278937 47278937 C T rs764236925 SLC1A5 Nonsynonymous SNV V284M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 291187 chr19 49657540 49657540 G T HRC Nonsynonymous SNV H319N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 291188 chr11 57177521 57177521 G T SLC43A3 Synonymous SNV G378G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.248 291189 chr19 50978618 50978618 C - rs752839799 FAM71E1 G168Afs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 291190 chr19 44117392 44117393 AG - rs759766341 SRRM5 D376Sfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 291191 chr7 6452513 6452513 G A rs143624783 DAGLB Nonsynonymous SNV L371F 0 0.003 0 0 0 1 0 0 0 0 0 0 25 291192 chr7 23830526 23830526 A G rs367739777 STK31 Synonymous SNV P884P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.231 291193 chr11 61045869 61045869 A G VWCE Synonymous SNV C468C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.398 291194 chr7 73472007 73472007 C T rs368237840 ELN Synonymous SNV A455A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.37 291195 chr7 76885752 76885752 G T rs141180887 CCDC146 Nonsynonymous SNV A204S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.043 291196 chr19 55670523 55670524 AG - rs560967168 DNAAF3 Stop gain S578* 0 0 0 1 0 0 0.003 0 0 0 0 0 291197 chr7 77649243 77649243 C T MAGI2 Nonsynonymous SNV E1239K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 291198 chr7 82583063 82583063 T C PCLO Synonymous SNV S2402S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.051 291199 chr19 45465258 45465258 G A rs374367654 CLPTM1 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 291200 chr19 45721548 45721548 C T rs369579237 EXOC3L2 Synonymous SNV K190K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 291201 chr7 83634871 83634871 G C rs753938957 SEMA3A Nonsynonymous SNV P382A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 291202 chr8 110424629 110424629 T C rs949750585 PKHD1L1 Nonsynonymous SNV F741L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 291203 chr8 110464995 110464995 T C rs376573811 PKHD1L1 Nonsynonymous SNV W2186R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 291204 chr19 56223294 56223294 G A rs111292272 NLRP9 Synonymous SNV I905I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 291205 chr19 46270072 46270072 G A rs574536767 SIX5 Nonsynonymous SNV T382I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 291206 chr7 92027050 92027050 C T rs373671321 ANKIB1 Synonymous SNV G803G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.14 291207 chr19 57723864 57723864 C T rs918246748 ZNF264 Nonsynonymous SNV R467W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 291208 chr8 101733713 101733713 C T rs148248545 PABPC1 Synonymous SNV P33P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.3 291209 chr19 58945296 58945296 G A rs573922418 ZNF132 Synonymous SNV H505H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 291210 chr19 58084588 58084588 G A rs145794172 ZNF416 Synonymous SNV H156H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 291211 chr7 50135931 50135931 T C rs182523159 SPATA48 Nonsynonymous SNV Y84H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.9 291212 chr19 58639296 58639296 G A rs34445868 ZNF329 Synonymous SNV S525S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.545 291213 chr19 58639809 58639809 G A rs768079 ZNF329 Synonymous SNV D354D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.807 291214 chr19 58640327 58640327 T C rs34255209 ZNF329 Nonsynonymous SNV N182D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.712 291215 chr19 58773339 58773339 G T rs140439680 ZNF544 Nonsynonymous SNV R428I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 291216 chr8 11839839 11839839 A C rs371741237 DEFB135 Synonymous SNV R4R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 291217 chr20 31830306 31830306 C T rs759939799 BPIFA1 Synonymous SNV H248H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.01 291218 chr20 33508835 33508835 C T rs760720132 ACSS2 Synonymous SNV D295D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 291219 chr11 68579921 68579921 G A rs574346392 CPT1A Nonsynonymous SNV R89W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 291220 chr7 65705936 65705936 C T rs143527303 TPST1 Nonsynonymous SNV P175L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 31 291221 chr11 72946113 72946113 C A P2RY2 Synonymous SNV P303P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 291222 chr20 3218602 3218602 G - SLC4A11 R37Gfs*106 0 0 0 1 0 0 0.003 0 0 0 0 0 291223 chr20 3680054 3680054 C T rs775386023 SIGLEC1 Synonymous SNV V527V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 291224 chr7 76916213 76916213 C A CCDC146 Synonymous SNV T749T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 291225 chr7 77026318 77026318 T C rs996485767 GSAP Synonymous SNV K97K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.36 291226 chr20 10388369 10388369 C T rs367980245 MKKS Synonymous SNV T389T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 19.41 291227 chr8 143846161 143846161 T A LYNX1-SLURP2, SLURP2 0 0.003 0 0 0 1 0 0 0 0 0 0 11.94 291228 chr8 143866679 143866679 C G rs139532798 LY6D Synonymous SNV L115L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.919 291229 chr8 144547901 144547901 G C rs759923849 ZC3H3 Nonsynonymous SNV P765A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 291230 chr19 53391416 53391416 C T rs201415689 ZNF320 Nonsynonymous SNV V36M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 291231 chr11 9167285 9167285 T C rs776057421 DENND5A Nonsynonymous SNV I955V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.695 291232 chr19 53854454 53854454 A G rs772421071 ZNF845 Nonsynonymous SNV T176A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 291233 chr8 15480632 15480632 C - TUSC3 R62Dfs*7 0 0.003 0 0 0 1 0 0 0 0 0 0 291234 chr12 106729940 106729940 C T rs147598851 TCP11L2 Nonsynonymous SNV A364V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 291235 chr8 120606077 120606077 G A rs777887975 ENPP2 Synonymous SNV I332I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 291236 chr20 31383270 31383270 C T rs760283600 DNMT3B Synonymous SNV P298P 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 15.56 291237 chr8 17838167 17838167 G A rs371537624 PCM1 Synonymous SNV Q1337Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.451 291238 chr12 109186559 109186559 G A SSH1 Nonsynonymous SNV L477F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 291239 chr19 56109016 56109016 C T rs757387264 FIZ1 Synonymous SNV S72S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 291240 chr20 34278375 34278375 G C rs773889381 NFS1 Nonsynonymous SNV T174S 0.002 0 0 2 2 0 0.005 0 0 0 0 0 26.7 291241 chr20 35443690 35443690 C G rs200050218 SOGA1 Nonsynonymous SNV V719L 0.002 0 0 2 2 0 0.005 0 0 0 0 0 1.228 291242 chr8 21978440 21978440 A C HR Nonsynonymous SNV I800S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 291243 chr20 45132868 45132868 T G rs189187102 ZNF334 Nonsynonymous SNV N38H 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 7.469 291244 chr8 131833638 131833638 - TGA ADCY8 S901_L902insS 0 0 0 1 0 0 0.003 0 0 0 0 0 291245 chr20 43837007 43837007 C T rs183367221 SEMG1 Stop gain R357X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 291246 chr19 57641826 57641826 G A rs141050797 USP29 Nonsynonymous SNV V595I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 291247 chr8 27528738 27528738 C T rs200949728 SCARA3 Nonsynonymous SNV P564L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 291248 chr12 122248137 122248137 G A rs767994722 SETD1B Nonsynonymous SNV R429Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 291249 chr8 3265683 3265683 T C rs200038564 CSMD1 Synonymous SNV E603E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.852 291250 chr8 33357869 33357869 G A rs201577994 TTI2 Nonsynonymous SNV R436C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 291251 chr12 126929569 126929569 G A rs193167616 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 1.503 291252 chr20 644801 644809 CCCCGCGCG - rs760188191 SCRT2 R144_G146del 0.002 0 0 0 2 0 0 0 0 0 0 0 291253 chr12 13215896 13215896 T C rs142053587 FAM234B Nonsynonymous SNV I280T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 291254 chr8 6302308 6302308 G T rs200976069 MCPH1 Nonsynonymous SNV K307N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 291255 chr20 42635268 42635268 C G rs757710325 TOX2 Nonsynonymous SNV L41V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 291256 chr20 62194514 62194514 G A HELZ2 Synonymous SNV L1318L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.586 291257 chr9 106858494 106858494 T A SMC2 Synonymous SNV S78S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.532 291258 chr8 67579127 67579127 T C rs758196422 VCPIP1 Nonsynonymous SNV T23A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.64 291259 chr20 62372754 62372754 G A SLC2A4RG Nonsynonymous SNV V105I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 291260 chr8 72938259 72938259 C T rs142468969 TRPA1 Nonsynonymous SNV R996H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 291261 chr21 22652900 22652900 C T NCAM2 Nonsynonymous SNV L20F 0 0 0 1 0 0 0.003 0 0 0 0 0 27 291262 chr21 27938584 27938584 C T rs150580100 CYYR1 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 291263 chr9 115221847 115221847 A C HSDL2 Nonsynonymous SNV K305N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 291264 chr22 19344478 19344478 G A HIRA Synonymous SNV I777I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 291265 chr8 9627756 9627756 T C rs890335105 TNKS Nonsynonymous SNV I1294T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 291266 chr21 37612093 37612093 C T rs61756713 DOP1B Synonymous SNV A969A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.21 291267 chr21 38309321 38309321 C T rs149291867 HLCS Nonsynonymous SNV V289I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.154 291268 chr9 117433676 117433676 C T rs535814739 TEX48 Synonymous SNV K38K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.594 291269 chr9 100972955 100972955 G C rs781217592 TBC1D2 Nonsynonymous SNV I92M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 291270 chr9 101867538 101867546 GGCGGCGGC - rs11466445 TGFBR1 A24_A26del 0 0.003 0 0 0 1 0 0 0 0 0 0 291271 chr9 117852922 117852922 G T rs755695211 TNC Nonsynonymous SNV L126M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 291272 chr9 107266626 107266626 T C rs79836745 OR13F1 Nonsynonymous SNV F28S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.8 291273 chr21 34632958 34632958 G C IFNAR2 Nonsynonymous SNV V256L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.252 291274 chr21 34951841 34951841 C T DONSON Nonsynonymous SNV A460T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 291275 chr21 41457684 41457684 G C DSCAM Nonsynonymous SNV T1326R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 291276 chr12 42866211 42866211 G A rs147268650 PRICKLE1 Synonymous SNV V36V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 0.956 291277 chr21 35275931 35275931 T C rs141125740 ATP5PO Nonsynonymous SNV I181V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 291278 chr20 29965119 29965119 C T rs111917092 DEFB119 Nonsynonymous SNV R62K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 291279 chr20 30419813 30419813 G A rs55807353 MYLK2 Synonymous SNV R528R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.785 291280 chr20 31023893 31023893 C T rs137912806 ASXL1 Synonymous SNV H1065H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.184 291281 chr21 45713679 45713679 C A AIRE Nonsynonymous SNV A429D 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 291282 chr21 44482453 44482453 C T rs760417941 CBS, CBSL Nonsynonymous SNV R231H 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 32 291283 chr21 44840120 44840120 C T rs148266853 SIK1, SIK1B Synonymous SNV T322T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.75 291284 chr20 49354588 49354588 A G PARD6B Synonymous SNV P87P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.348 291285 chr22 19969488 19969488 C T rs201328909 ARVCF Nonsynonymous SNV E113K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 291286 chr22 20825715 20825715 T C rs375641874 KLHL22 Synonymous SNV L105L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.399 291287 chr12 56558261 56558261 G A SMARCC2 Nonsynonymous SNV P1132S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 291288 chr22 21384386 21384386 G A rs371765676 SLC7A4 Nonsynonymous SNV R413C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 291289 chr9 130587632 130587632 G C rs200372420 ENG Nonsynonymous SNV R232G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 291290 chr20 60885085 60885085 C T rs750461375 LAMA5 Nonsynonymous SNV R3596H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.843 291291 chr22 30416522 30416522 C T rs147400483 MTMR3 Synonymous SNV C958C 0 0 0 1 0 0 0.003 0 0 0 0 0 5.185 291292 chr22 30769844 30769844 G A rs1029595545 KIAA1656 0 0 0 1 0 0 0.003 0 0 0 0 0 1.807 291293 chr22 30823197 30823197 G A MTFP1 Nonsynonymous SNV V79M 0 0 0 1 0 0 0.003 0 0 0 0 0 23 291294 chr12 72316951 72316951 G C rs114083238 TBC1D15 Synonymous SNV V664V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.247 291295 chr20 62198578 62198578 C T rs115914902 HELZ2 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 291296 chr9 1051625 1051625 G A rs765522388 DMRT2 Synonymous SNV P4P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.55 291297 chr9 135977399 135977399 C T rs113532379 RALGDS Nonsynonymous SNV G658S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 291298 chr12 9027043 9027043 A C A2ML1 Nonsynonymous SNV Y924S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 291299 chr22 37397884 37397884 C G TEX33 Nonsynonymous SNV E161D 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 291300 chr22 38013048 38013048 A - rs753438570 GGA1 D83Afs*9 0 0 0 1 0 0 0.003 0 0 0 0 0 291301 chr22 24432610 24432610 C T CABIN1 Nonsynonymous SNV T26I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 22.3 291302 chr22 41982089 41982089 C T rs146374463 PMM1 Nonsynonymous SNV G66R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 291303 chr9 140086963 140086963 G A rs145556855 TPRN Nonsynonymous SNV R636W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 291304 chr9 14769852 14769852 C T FREM1 Nonsynonymous SNV E228K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 291305 chr21 42807955 42807955 C T rs149433993 MX1 Synonymous SNV S99S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.778 291306 chr22 46655120 46655120 C T rs372547406 PKDREJ Nonsynonymous SNV R1367Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.849 291307 chr22 46780520 46780520 G C rs201355911 CELSR1 Nonsynonymous SNV T2268S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.004 291308 chr22 47507439 47507439 C T rs750886887 TBC1D22A Synonymous SNV Y377Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 14.02 291309 chr9 26892464 26892464 G C CAAP1 Nonsynonymous SNV R84G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 291310 chr22 50694542 50694542 G A rs757302429 MAPK12 Synonymous SNV I187I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 291311 chr9 95608522 95608522 A C ZNF484 Synonymous SNV L813L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 291312 chr9 96438962 96438962 T C rs750162928 PHF2 Synonymous SNV S973S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 291313 chr22 51018835 51018835 C T CHKB Nonsynonymous SNV E230K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.96 291314 chr9 5924759 5924759 C T rs771510657 KIAA2026 Nonsynonymous SNV G862D 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 291315 chr22 50017831 50017831 T G C22orf34 Nonsynonymous SNV H146P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.517 291316 chr22 38363717 38363717 G A rs781268520 POLR2F Nonsynonymous SNV D127N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.9 291317 chr1 1190670 1190670 G A rs150711118 UBE2J2 Synonymous SNV G179G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.84 291318 chr9 136269084 136269084 G A rs782633197 STKLD1 Synonymous SNV L548L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.249 291319 chr1 1222269 1222269 C T rs148117452 SCNN1D Nonsynonymous SNV H345Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.029 291320 chr22 19511587 19511587 G A rs756314663 CLDN5 Synonymous SNV C149C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 291321 chr1 1356360 1356360 C G rs780039166 ANKRD65 Nonsynonymous SNV R9T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.975 291322 chr1 1356378 1356378 G T rs1049575103 ANKRD65 Nonsynonymous SNV S3Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 291323 chr1 1356379 1356379 A T rs889512148 ANKRD65 Nonsynonymous SNV S3T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 291324 chrX 54786263 54786263 C G ITIH6 Nonsynonymous SNV G334A 0 0 0 2 0 0 0.005 0 0 0 0 1 0.063 291325 chr22 19969213 19969213 C T rs1016753329 ARVCF Synonymous SNV V139V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 291326 chrX 68836358 68836358 G T rs132630309 EDA Nonsynonymous SNV R69L 0 0 0.007 2 0 0 0.005 2 0 0 1 1 Conflicting interpretations of pathogenicity 24 291327 chr22 21354202 21354202 G A THAP7 Synonymous SNV D299D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.368 291328 chr22 21377677 21377677 G C rs766643173 P2RX6 Nonsynonymous SNV G100A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291329 chrX 15706923 15706923 C T rs1043468725 CA5BP1, CA5BP1-CA5B 0 0.005 0 0 0 2 0 0 0 1 0 0 2.225 291330 chr9 139566734 139566734 C T rs144969763 EGFL7 Nonsynonymous SNV S273L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 291331 chrX 9864641 9864641 C T rs147796126 SHROOM2 Nonsynonymous SNV A898V 0.002 0 0 0 2 0 0 0 1 0 0 0 23.9 291332 chr9 96415487 96415487 A T rs751723883 PHF2 Nonsynonymous SNV D210V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 291333 chr14 102431211 102431211 C T rs554497564 DYNC1H1 Synonymous SNV A61A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.31 291334 chr9 97823066 97823066 - A AOPEP Stop gain Y637* 0 0.003 0 0 0 1 0 0 0 0 0 0 291335 chrX 102631387 102631387 G - BEX3 G21Afs*134 0 0.005 0 0 0 2 0 0 0 1 0 0 291336 chr9 139990809 139990809 C T rs373430024 MAN1B1 Nonsynonymous SNV R196C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.9 291337 chrX 119421053 119421053 G T rs12845457 TMEM255A Synonymous SNV R127R 0 0 0 2 0 0 0.005 0 0 0 0 1 12.17 291338 chr14 105359911 105359911 G A rs200282378 CEP170B Nonsynonymous SNV G1329S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 291339 chrX 129159337 129159337 G A rs139239140 BCORL1 Nonsynonymous SNV R1354Q 0 0.005 0 0 0 2 0 0 0 1 0 0 24.3 291340 chrX 142717871 142717871 G C SLITRK4 Nonsynonymous SNV P352A 0 0 0 2 0 0 0.005 0 0 0 0 1 1.32 291341 chr14 21052474 21052474 T C rs200151964 RNASE11 Nonsynonymous SNV N54D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.201 291342 chrX 152134061 152134061 C T rs782484033 ZNF185 Nonsynonymous SNV R234C 0 0 0 2 0 0 0.005 0 0 0 0 1 15.11 291343 chrX 153590918 153590918 G A rs35986650 FLNA Synonymous SNV A811A 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign/Likely benign 6.032 291344 chr9 32526156 32526156 G A rs142058831 DDX58 Synonymous SNV T3T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 5.89 291345 chr10 101606811 101606811 C T rs544311254 ABCC2 Nonsynonymous SNV H1414Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 31 291346 chr22 37407216 37407216 C T rs201390435 TST Nonsynonymous SNV R249H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 291347 chrX 69282393 69282393 G C rs202156115 OTUD6A Nonsynonymous SNV E7Q 0.003 0.005 0 0 4 2 0 0 1 1 0 0 14.28 291348 chr1 20097814 20097814 G A rs758925169 TMCO4 Nonsynonymous SNV T114M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.384 291349 chr9 71668056 71668056 C A FXN Synonymous SNV G88G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.15 291350 chr10 100174877 100174877 G C PYROXD2 Nonsynonymous SNV R6G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.14 291351 chr1 6680252 6680252 G A rs116799550 PHF13 Synonymous SNV S177S 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign 0.297 291352 chr9 73461471 73461471 G A rs146800889 TRPM3 Nonsynonymous SNV L14F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 291353 chr1 7724048 7724048 A G rs142884344 CAMTA1 Nonsynonymous SNV M451V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 291354 chr10 101715682 101715682 T C rs1023092067 DNMBP Nonsynonymous SNV I517V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 291355 chr10 102054310 102054310 G A rs148570260 PKD2L1 Synonymous SNV F500F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.86 291356 chr9 78936437 78936437 C T rs750134454 PCSK5 Synonymous SNV H1301H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.15 291357 chr1 9073605 9073605 G C rs766955744 SLC2A7 Nonsynonymous SNV N331K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 291358 chr1 9101911 9101911 G A SLC2A5 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 291359 chr10 102541034 102541034 C T rs369240774 PAX2 Synonymous SNV S176S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 291360 chr10 102891349 102891349 T C rs200315484 TLX1 Synonymous SNV I17I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.63 291361 chr1 11766622 11766622 G A rs759597078 DRAXIN Nonsynonymous SNV A103T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 291362 chr1 1022921 1022921 C T rs377735859 C1orf159 Nonsynonymous SNV G69R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 291363 chr22 50722336 50722336 C T rs551456267 PLXNB2 Nonsynonymous SNV G783R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.772 291364 chr1 1847169 1847169 G A rs375990812 CALML6 Nonsynonymous SNV D25N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.102 291365 chr1 2116938 2116938 C T rs781257642 FAAP20 Nonsynonymous SNV A117T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.924 291366 chr1 2421219 2421219 C T PLCH2 Synonymous SNV N449N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 291367 chr14 69798249 69798249 A G rs748615009 GALNT16 Synonymous SNV A253A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 291368 chr10 121567496 121567496 A G INPP5F Nonsynonymous SNV N498S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 291369 chr1 18809720 18809720 G A rs141213766 KLHDC7A Nonsynonymous SNV E749K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.49 291370 chr1 18809721 18809721 A T rs139861799 KLHDC7A Nonsynonymous SNV E749V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 291371 chr10 123844219 123844219 C T rs201625808 TACC2 Nonsynonymous SNV A735V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.361 291372 chrX 47083134 47083134 C T rs200177369 CDK16 Nonsynonymous SNV R134W 0.002 0 0 0 2 0 0 0 1 0 0 0 22.7 291373 chrX 48689691 48689691 T A rs782782833 PCSK1N Synonymous SNV A254A 0.002 0 0 0 2 0 0 0 1 0 0 0 4.421 291374 chr1 21932582 21932582 C T rs762569918 RAP1GAP Nonsynonymous SNV D533N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291375 chr1 11779674 11779674 G T DRAXIN Nonsynonymous SNV R324L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 291376 chrX 27839991 27839991 G A MAGEB10 Nonsynonymous SNV A190T 0 0 0 2 0 0 0.005 0 0 0 0 1 3.959 291377 chr14 88652293 88652293 A G rs199833234 KCNK10 Synonymous SNV A401A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.642 291378 chr1 24076334 24076334 G A rs200124737 ELOA Synonymous SNV E71E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 291379 chr14 90755219 90755219 G C rs541596816 NRDE2 Nonsynonymous SNV L834V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 291380 chr1 11848080 11848080 G A rs371188005 C1orf167 Nonsynonymous SNV S1275N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.708 291381 chr14 93940602 93940602 G C UNC79 Nonsynonymous SNV R104P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 291382 chrX 47836301 47836301 A G ZNF182 Synonymous SNV T376T 0 0 0 4 0 0 0.01 0 0 0 0 2 0.552 291383 chrX 117788891 117788891 G A DOCK11 Nonsynonymous SNV A1646T 0.002 0 0 0 2 0 0 0 1 0 0 0 25.8 291384 chr10 135096591 135096591 G A rs141749772 TUBGCP2 Synonymous SNV N630N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.427 291385 chrX 55052266 55052266 T G ALAS2 Synonymous SNV T56T 0 0 0 4 0 0 0.01 0 0 0 0 2 7.494 291386 chr1 17296752 17296752 T C CROCC Nonsynonymous SNV L1819P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 291387 chr1 27219193 27219193 G T rs199645360 GPATCH3 Nonsynonymous SNV R401S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.534 291388 chr10 13698897 13698897 G A FRMD4A Nonsynonymous SNV P589S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 291389 chr10 15628601 15628601 G A rs371802080 ITGA8 Nonsynonymous SNV A770V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 291390 chrX 140985097 140985097 C A MAGEC3 Nonsynonymous SNV P220H 0.002 0 0 0 2 0 0 0 1 0 0 0 22.7 291391 chr1 32950945 32950945 G A rs777156299 ZBTB8B Nonsynonymous SNV D472N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 291392 chr1 18808545 18808545 C - KLHDC7A R358Efs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 291393 chr1 20976998 20976998 G A rs764454206 PINK1 Synonymous SNV K520K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 291394 chr1 34033411 34033411 T C CSMD2 Nonsynonymous SNV Y2721C 0 0 0 1 0 0 0.003 0 0 0 0 0 1.877 291395 chr1 21932595 21932595 C T rs767394293 RAP1GAP Synonymous SNV A528A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.4 291396 chr1 41285621 41285621 C T rs773015201 KCNQ4 Synonymous SNV F303F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.77 291397 chr1 22174481 22174481 C T rs142226974 HSPG2 Nonsynonymous SNV V2616I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 291398 chr1 22965708 22965708 G C C1QA Nonsynonymous SNV Q182H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.042 291399 chr1 40366712 40366712 G A rs750465055 MYCL Nonsynonymous SNV T132I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.95 291400 chr15 35834650 35834650 C T rs148139655 DPH6 Nonsynonymous SNV V28I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.9 291401 chr1 23222928 23222928 C T rs56264796 EPHB2 Synonymous SNV D574D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.06 291402 chr1 77627282 77627282 G A rs35968680 PIGK Synonymous SNV L233L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 291403 chr1 45974782 45974782 G A rs866672378 MMACHC Synonymous SNV P191P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.99 291404 chr1 24700288 24700288 A G STPG1 Nonsynonymous SNV C112R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 291405 chr1 28800223 28800223 G A rs200094105 PHACTR4 Synonymous SNV T337T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.912 291406 chr15 42980693 42980693 C T rs764571946 STARD9 Nonsynonymous SNV T2306M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.76 291407 chr10 49928168 49928168 C A rs147299795 WDFY4 Nonsynonymous SNV A116E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 291408 chr10 115805191 115805193 GAT - rs1001731719 ADRB1 D434del 0.001 0 0 0 1 0 0 0 0 0 0 0 291409 chr10 50530860 50530860 G A rs374572081 C10orf71 Synonymous SNV T90T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.669 291410 chr10 116207653 116207653 G A rs770620818 ABLIM1 Nonsynonymous SNV S197L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291411 chr1 32221798 32221798 T G rs775762120 ADGRB2 Synonymous SNV R214R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.362 291412 chr1 54423828 54423828 C T rs200868851 LRRC42 Synonymous SNV L160L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.34 291413 chr15 45396564 45396564 C G rs758001307 DUOX2 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 291414 chr10 119768572 119768572 C A rs150361845 RAB11FIP2 Synonymous SNV T492T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.98 291415 chr1 32096374 32096374 C T rs371830019 PEF1 Nonsynonymous SNV R162H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 291416 chr1 35881182 35881182 A G rs996355025 ZMYM4 Synonymous SNV Q1068Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.774 291417 chr10 55719542 55719542 A G PCDH15 Synonymous SNV I953I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.198 291418 chr1 32827685 32827685 G A rs781282398 FAM229A Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291419 chr1 38444457 38444457 T C rs763555517 SF3A3 Synonymous SNV G237G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.166 291420 chr10 123923476 123923476 A C rs776515408 TACC2 Nonsynonymous SNV S13R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 291421 chr1 38463708 38463708 G A FHL3 Nonsynonymous SNV P35L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 291422 chr1 39549945 39549962 TCTTGTCGGAGTGAGCGA - rs766309512 MACF1 C20_S25del 0.001 0 0 0 1 0 0 0 0 0 0 0 291423 chr10 73550165 73550165 G A rs776463188 CDH23 Nonsynonymous SNV S2015N 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 291424 chr10 16635435 16635435 C T rs540134633 RSU1 Synonymous SNV S211S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.37 291425 chr10 75199645 75199645 T C rs759360490 PPP3CB Nonsynonymous SNV I462V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.01 291426 chr10 135044773 135044773 C T UTF1 Nonsynonymous SNV H285Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 291427 chr1 89352981 89352981 G A rs78977160 GTF2B Synonymous SNV A29A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 291428 chr1 53446142 53446142 C T rs148423275 SCP2 Synonymous SNV D256D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.42 291429 chr10 91143224 91143224 G A rs185026533 IFIT1B Nonsynonymous SNV V52M 0.003 0 0 0 4 0 0 0 0 0 0 0 6.05 291430 chr10 93586778 93586778 G T TNKS2 Nonsynonymous SNV G267V 0.003 0 0 0 4 0 0 0 0 0 0 0 32 291431 chr1 55118872 55118872 A G rs75579421 MROH7 Synonymous SNV P91P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.176 291432 chr1 55248120 55248120 T C rs61733130 TTC22 Nonsynonymous SNV K351E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.721 291433 chr1 55253437 55253437 C T rs80076000 TTC22 Nonsynonymous SNV R229H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 291434 chr1 152083666 152083666 T C rs200205152 TCHH Nonsynonymous SNV H676R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.182 291435 chr1 94564484 94564484 G A rs61750200 ABCA4 Nonsynonymous SNV R212C 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 34 291436 chr10 94220966 94220966 A C rs749319197 IDE Nonsynonymous SNV D380E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.09 291437 chr15 89074582 89074582 G A rs547746422 DET1 Nonsynonymous SNV R119W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 291438 chr10 96748632 96748632 G A rs376352385 CYP2C9 Synonymous SNV L440L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.952 291439 chr15 90119069 90119069 C G rs556549165 TICRR Synonymous SNV L84L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 291440 chr1 70303924 70303924 G A rs202175098 LRRC7 Nonsynonymous SNV R203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291441 chr1 156554679 156554679 C T TTC24 Nonsynonymous SNV P421L 0.002 0 0 0 2 0 0 0 0 0 0 0 18.68 291442 chr1 114362252 114362252 - AATTC PTPN22 Frameshift insertion N714Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 291443 chr10 48438646 48438646 - GCAGCA GDF10 L21_P22insLL 0.001 0 0 0 1 0 0 0 0 0 0 0 291444 chr1 145560116 145560116 T A rs782259131 ANKRD35 Nonsynonymous SNV V111E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 291445 chr1 89599084 89599084 G C rs79037912 GBP7 Nonsynonymous SNV Q507E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.231 291446 chr1 160922451 160922451 C G ITLN2 Nonsynonymous SNV R51T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 291447 chr1 100358030 100358030 G A rs778226959 AGL Synonymous SNV L1042L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 291448 chr16 22159616 22159616 G A VWA3A Synonymous SNV K991K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.208 291449 chr11 103178503 103178503 - G rs767683205 DYNC2H1 Frameshift insertion V3813Gfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 291450 chr1 98015244 98015244 G A rs774799003 DPYD Nonsynonymous SNV P466S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 291451 chr1 153507267 153507267 A C S100A6 Nonsynonymous SNV L60V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 291452 chr11 112065471 112065471 G T BCO2 Synonymous SNV G138G 0.002 0 0 0 2 0 0 0 0 0 0 0 7.191 291453 chr11 112065472 112065472 C T BCO2 Nonsynonymous SNV P139S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.359 291454 chr1 175331865 175331865 C T rs531733667 TNR Nonsynonymous SNV E597K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 291455 chr16 4165261 4165261 C T rs138231060 ADCY9 Synonymous SNV G61G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.62 291456 chr1 158151363 158151363 C T CD1D Synonymous SNV N60N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 291457 chr1 150445583 150445583 G A rs761821292 RPRD2 Nonsynonymous SNV G1361S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 291458 chr1 161298190 161298190 G A SDHC Nonsynonymous SNV V28I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.41 291459 chr1 150526312 150526312 G A ADAMTSL4 Nonsynonymous SNV R282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.626 291460 chr1 167025050 167025050 G A rs41270696 GPA33 Nonsynonymous SNV T203I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 291461 chr16 599035 599035 G A rs760086378 CAPN15 Nonsynonymous SNV E498K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 291462 chr1 155005215 155005215 G A rs372382713 DCST2 Nonsynonymous SNV R157W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 291463 chr1 205892291 205892291 G T rs116616041 SLC26A9 Synonymous SNV A564A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.552 291464 chr1 207010124 207010124 G A IL19 Synonymous SNV E39E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.06 291465 chr16 81819742 81819742 C G PLCG2 Nonsynonymous SNV R50G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 291466 chr1 186088915 186088915 G A rs182664406 HMCN1 Nonsynonymous SNV V3999I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 291467 chr16 84217047 84217047 C T rs533965692 TAF1C Nonsynonymous SNV R96Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.91 291468 chr1 212798966 212798966 C T rs138554231 FAM71A Synonymous SNV N249N 0.002 0 0 0 2 0 0 0 0 0 0 0 6.665 291469 chr1 161697077 161697077 A T rs139404539 FCRLB Nonsynonymous SNV H247L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.843 291470 chr16 88495426 88495426 C T ZNF469 Synonymous SNV G516G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.877 291471 chr11 18751085 18751085 T G rs144165124 PTPN5 Nonsynonymous SNV I483L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 291472 chr1 167865908 167865908 G A rs1017775328 ADCY10 Nonsynonymous SNV P69S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 291473 chr11 111731337 111731337 C T rs781864676 ALG9 Synonymous SNV G166G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 291474 chr11 27077073 27077073 A G rs780510064 BBOX1 Synonymous SNV V32V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.754 291475 chr11 3114838 3114838 G A rs772979791 OSBPL5 Nonsynonymous SNV T554I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 291476 chr11 32874866 32874866 G A PRRG4 Synonymous SNV G158G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.99 291477 chr1 179820098 179820098 G A rs369907841 TOR1AIP2 Synonymous SNV D145D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.618 291478 chr1 192335066 192335066 G A rs370485345 RGS21 Nonsynonymous SNV G91S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 291479 chr1 180905551 180905554 CAGA - rs752721442 KIAA1614 T837Sfs*163 0.001 0 0 0 1 0 0 0 0 0 0 0 291480 chr11 119148993 119148993 C T CBL Nonsynonymous SNV L405F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 291481 chr1 186114590 186114590 C T rs139398979 HMCN1 Synonymous SNV N4774N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.58 291482 chr1 186313073 186313073 T C rs186317277 TPR Synonymous SNV E1189E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.693 291483 chr1 193028380 193028380 T C rs144390300 UCHL5 Nonsynonymous SNV N4S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.888 291484 chr11 4566591 4566591 G A rs375320883 OR52M1 Synonymous SNV L57L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.978 291485 chr1 223986103 223986103 C T rs138105834 TP53BP2 Nonsynonymous SNV V588I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 291486 chr11 47354493 47354493 C T rs397516018 MYBPC3 Nonsynonymous SNV R1121H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.9 291487 chr1 203054984 203054984 C G rs141951943 MYOG Nonsynonymous SNV E36Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 291488 chr1 227843109 227843109 T C ZNF678 Synonymous SNV F410F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.654 291489 chr1 202403808 202403808 A G rs145355178 PPP1R12B Nonsynonymous SNV N389S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.365 291490 chr1 202700960 202700960 G A rs142375256 KDM5B Synonymous SNV L1294L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.08 291491 chr1 203014640 203014640 A C PPFIA4 Nonsynonymous SNV I271L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 291492 chr1 228464265 228464265 A G OBSCN Nonsynonymous SNV D2112G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291493 chr1 228509217 228509217 T G rs775765122 OBSCN Nonsynonymous SNV M4892R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 291494 chr1 229602487 229602487 G A rs374413292 NUP133 Nonsynonymous SNV T698I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 291495 chr11 128843054 128843054 C T rs990760548 ARHGAP32 Nonsynonymous SNV R753Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 291496 chr17 33903202 33903202 T G rs187526749 PEX12 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 291497 chr1 210577865 210577865 C T rs567439002 HHAT Nonsynonymous SNV R177C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.8 291498 chr2 9519181 9519181 C T rs750983493 ASAP2 Synonymous SNV I647I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.6 291499 chr17 3848079 3848079 C A rs746553987 ATP2A3 Synonymous SNV V402V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 291500 chr11 55761730 55761730 C A OR5F1 Synonymous SNV A124A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 291501 chr1 228537637 228537637 C T OBSCN Synonymous SNV D6065D 0.002 0 0 0 2 0 0 0 0 0 0 0 11.97 291502 chr1 228557712 228557712 C T rs377444100 OBSCN Synonymous SNV R6679R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 291503 chr1 228527777 228527777 G A rs56021741 OBSCN Nonsynonymous SNV S5797N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 291504 chr2 27460285 27460285 G A CAD Nonsynonymous SNV G1416R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 291505 chr2 28050599 28050599 C T rs369642165 RBKS Synonymous SNV T210T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 291506 chr1 248343971 248343971 G C rs140413677 OR2M2 Nonsynonymous SNV M228I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.898 291507 chr1 248844695 248844695 A T rs114135727 OR14I1 Nonsynonymous SNV V304E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 291508 chr2 29474048 29474048 G T rs376175333 ALK Nonsynonymous SNV N709K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.5 291509 chr1 233161099 233161099 G A rs367544573 PCNX2 Synonymous SNV D1466D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.156 291510 chr1 235577872 235577872 G A rs773805966 TBCE Nonsynonymous SNV V104I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 291511 chr17 42015976 42015976 C T rs549314878 LINC01976 0 0 0.007 0 0 0 0 2 0 0 0 0 0.014 291512 chr1 237982383 237982383 C A rs114303476 RYR2 Synonymous SNV I4827I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22 291513 chr17 4352635 4352635 C T rs140996361 SPNS3 Synonymous SNV H165H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.865 291514 chr11 35492254 35492254 G A rs776344621 PAMR1 Nonsynonymous SNV R203W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 291515 chr1 247201144 247201144 G A rs746978429 ZNF670 Synonymous SNV G258G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.302 291516 chr11 44105335 44105335 G A rs752892123 ACCS Nonsynonymous SNV R500H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 291517 chr2 55185029 55185029 T C rs568210027 EML6 Nonsynonymous SNV M1530T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 291518 chr2 62449382 62449382 G T B3GNT2 Nonsynonymous SNV K9N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 291519 chr2 63176050 63176050 C T rs200062917 EHBP1 Nonsynonymous SNV T690I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.13 291520 chr2 5833585 5833585 C G rs769259145 SOX11 Nonsynonymous SNV D244E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 291521 chr2 31467155 31467155 G C rs138676775 EHD3 Nonsynonymous SNV Q81H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 291522 chr2 7027186 7027186 G A RSAD2 Stop gain W210X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 291523 chr2 10917815 10917815 C G rs200356976 ATP6V1C2 Synonymous SNV T310T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.83 291524 chr2 44065755 44065755 G A rs781098379 ABCG5 Stop gain Q22X 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 291525 chr2 46739703 46739703 G A rs373572329 ATP6V1E2 Stop gain R50X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 291526 chr2 23926671 23926671 C T rs368696669 KLHL29 Synonymous SNV Y794Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 291527 chr2 54087052 54087052 G A GPR75-ASB3 Nonsynonymous SNV P5L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.822 291528 chr2 27446509 27446509 G T CAD Synonymous SNV G296G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 291529 chr2 27600620 27600620 C T rs376305062 ZNF513 Nonsynonymous SNV R411H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 291530 chr2 27676523 27676523 C G IFT172 Nonsynonymous SNV E1265D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 291531 chr2 27800387 27800387 A G C2orf16 Synonymous SNV L316L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 291532 chr11 64991012 64991012 C T rs772091630 SLC22A20P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.14 291533 chr2 69207904 69207904 T C rs143595030 GKN1 Synonymous SNV S183S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.01 291534 chr2 29450453 29450453 G T rs886055930 ALK Synonymous SNV T967T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.57 291535 chr2 33526648 33526648 G A rs750811131 LTBP1 Nonsynonymous SNV G814S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 291536 chr2 73429944 73429944 G C NOTO Synonymous SNV S50S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.297 291537 chr11 65412514 65412514 C T rs757601345 SIPA1 Nonsynonymous SNV P358L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 291538 chr17 7662820 7662820 A G rs747728354 DNAH2 Synonymous SNV S843S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.994 291539 chr11 65561535 65561535 G A rs775374544 OVOL1 Nonsynonymous SNV R45Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.26 291540 chr11 66272207 66272207 C A rs146568792 DPP3 Nonsynonymous SNV S638Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 291541 chr2 85069113 85069113 G C rs747726341 TRABD2A Nonsynonymous SNV Q230E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 291542 chr2 44202329 44202329 G A LRPPRC Synonymous SNV L255L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 291543 chr2 95947671 95947671 A G PROM2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 291544 chr2 136033278 136033278 C T rs775134830 ZRANB3 Synonymous SNV S338S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 291545 chr2 55786011 55786011 C T PPP4R3B Nonsynonymous SNV G700E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291546 chr2 61473494 61473494 A C USP34 Nonsynonymous SNV D2171E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 291547 chr2 61528103 61528103 C T rs202196844 USP34 Nonsynonymous SNV A1371T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 291548 chr2 99136555 99136555 G A rs374377384 INPP4A Nonsynonymous SNV R15H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 291549 chr2 99786008 99786008 C T rs369333970 MITD1 Nonsynonymous SNV G220E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 291550 chr2 152346522 152346522 G A rs78592085 NEB Nonsynonymous SNV T6600M 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 291551 chr2 152396897 152396897 G A rs199730497 NEB Synonymous SNV I5250I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.08 291552 chr2 157426026 157426026 G A rs141790407 GPD2 Synonymous SNV V484V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.92 291553 chr11 7111084 7111084 C T RBMXL2 Nonsynonymous SNV H245Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 291554 chr2 74007201 74007201 G A rs376117582 DUSP11 Synonymous SNV C14C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.461 291555 chr2 74328425 74328425 T C rs199654650 TET3 Nonsynonymous SNV S1411P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 291556 chr2 165984464 165984464 C T SCN3A Nonsynonymous SNV E975K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 291557 chr18 12546774 12546774 C T rs779727504 SPIRE1 Nonsynonymous SNV G168S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 291558 chr18 13057693 13057693 C G rs375156347 CEP192 Synonymous SNV V1406V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.795 291559 chr11 72408085 72408085 C G ARAP1 Nonsynonymous SNV D731H 0.003 0 0 0 3 0 0 0 0 0 0 0 26.6 291560 chr2 84954955 84954955 A T DNAH6 Nonsynonymous SNV M3379L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 291561 chr2 85532397 85532397 G A rs765101094 TCF7L1 Nonsynonymous SNV R287Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 291562 chr11 57317541 57317541 C T rs747904672 SMTNL1 Nonsynonymous SNV R481C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 291563 chr11 74952518 74952518 C T TPBGL Nonsynonymous SNV P142S 0.003 0 0 0 3 0 0 0 0 0 0 0 10.5 291564 chr18 29055626 29055626 G A rs762923123 DSG3 Synonymous SNV A801A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 291565 chr11 77383165 77383165 C T rs181969957 RSF1 Nonsynonymous SNV G1225S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.9 291566 chr11 77921533 77921533 C G rs369618243 USP35 Nonsynonymous SNV L878V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.861 291567 chr2 133403668 133403668 G A rs58347009 LYPD1 Nonsynonymous SNV R74C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 291568 chr2 179494973 179494973 A T TTN Nonsynonymous SNV V5694D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 291569 chr18 46860145 46860145 T A rs370414289 DYM Nonsynonymous SNV E191D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.007 291570 chr2 152511874 152511874 A C rs78733601 NEB Nonsynonymous SNV I2239M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 23.1 291571 chr2 152518847 152518847 G A rs77547727 NEB Synonymous SNV Y1924Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.933 291572 chr2 113089814 113089814 C T rs778980445 ZC3H6 Nonsynonymous SNV L1107F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 291573 chr2 152544903 152544903 T C rs77151072 NEB Nonsynonymous SNV Y773C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26.5 291574 chr11 61675622 61675622 G A rs764645174 RAB3IL1 Synonymous SNV A103A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 291575 chr11 94759760 94759760 C T rs782655121 KDM4E Nonsynonymous SNV P347S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 291576 chr11 95521671 95521671 T C rs112575974 FAM76B Synonymous SNV Q48Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 291577 chr2 162903429 162903429 G A rs750539982 DPP4 Nonsynonymous SNV T94I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 291578 chr2 122363442 122363442 C T rs368499126 CLASP1 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 291579 chr2 163204210 163204210 T C rs765343851 GCA Synonymous SNV A76A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.204 291580 chr2 125671753 125671753 G A rs779760800 CNTNAP5 Nonsynonymous SNV R1271H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 291581 chr11 63233600 63233600 G A rs775959240 PLAAT5 Synonymous SNV G233G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.886 291582 chr2 133403722 133403722 C T rs775735234 LYPD1 Nonsynonymous SNV G56R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 291583 chr2 141264427 141264427 T G LRP1B Nonsynonymous SNV K2820T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 291584 chr11 64567110 64567110 C T rs775390654 MAP4K2 Nonsynonymous SNV G321S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 291585 chr12 108604072 108604072 G A rs371716560 WSCD2 Synonymous SNV S224S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 291586 chr12 108917308 108917308 C T rs370650616 SART3 Nonsynonymous SNV V940I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.586 291587 chr11 66512293 66512293 C G rs777651416 C11orf80 Nonsynonymous SNV A27G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.2 291588 chr2 179499204 179499204 C T rs72650080 TTN Nonsynonymous SNV A5037T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 22.8 291589 chr2 205983735 205983735 C T rs80348816 PARD3B Synonymous SNV I257I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.92 291590 chr11 65348557 65348557 - GAG rs776134640 EHBP1L1 E226_G227insE 0.001 0 0 0 1 0 0 0 0 0 0 0 291591 chr2 175622385 175622385 G C CHRNA1 Nonsynonymous SNV L85V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 291592 chr2 160027047 160027047 C T rs752517351 TANC1 Nonsynonymous SNV P160L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 291593 chr2 177017345 177017345 A G rs369822828 HOXD4 Nonsynonymous SNV N148S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 291594 chr11 65398000 65398000 C T rs754521212 PCNX3 Synonymous SNV S1465S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 291595 chr2 158115060 158115060 C T rs201587440 GALNT5 Nonsynonymous SNV H156Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 291596 chr2 178936293 178936293 C T rs944135782 PDE11A Nonsynonymous SNV G291E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 291597 chr2 207988705 207988705 C G rs146378446 KLF7 Nonsynonymous SNV V143L 0.002 0 0 0 2 0 0 0 0 0 0 0 17.94 291598 chr2 179489419 179489419 G A rs759406486 TTN Nonsynonymous SNV T5798M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 291599 chr2 179574326 179574326 A G rs937597265 TTN Nonsynonymous SNV S8330P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 291600 chr12 114837371 114837371 G A rs28730763 TBX5 Synonymous SNV L53L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.09 291601 chr2 179615725 179615725 A G rs920098863 TTN Nonsynonymous SNV I3801T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 291602 chr2 167273373 167273373 T A rs764304362 SCN7A Nonsynonymous SNV E1086D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 291603 chr19 11488757 11488765 TGGGCTCCC - rs778198044 EPOR A476_G478del 0 0 0.003 0 0 0 0 1 0 0 0 0 291604 chr19 11918045 11918045 G C rs374128344 ZNF491 Nonsynonymous SNV C426S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.538 291605 chr2 168104847 168104847 T - rs779205445 XIRP2 Stop gain L2094* 0.001 0 0 0 1 0 0 0 0 0 0 0 291606 chr11 67077574 67077574 G A rs141784426 SSH3 Nonsynonymous SNV V483I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 291607 chr19 12739381 12739381 C T rs750328484 ZNF791 Synonymous SNV H346H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 291608 chr2 170048491 170048491 C T rs149148484 LRP2 Synonymous SNV P2961P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 291609 chr2 218682731 218682731 G A rs147499675 TNS1 Nonsynonymous SNV R1317W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 291610 chr19 14512332 14512332 C T rs375567054 ADGRE5 Synonymous SNV S251S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.188 291611 chr2 198570518 198570518 T C rs369620233 MARS2 Nonsynonymous SNV I130T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 291612 chr2 172935784 172935784 T C rs774102159 METAP1D Synonymous SNV I112I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.86 291613 chr2 178528641 178528641 G A rs61306957 PDE11A Nonsynonymous SNV R423W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 291614 chr2 179425343 179425343 G T rs201272728 TTN Nonsynonymous SNV Q19441K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.572 291615 chr2 179543213 179543213 G A rs374449452 TTN Nonsynonymous SNV P10036S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 291616 chr2 179549073 179549073 C T rs372124201 TTN Synonymous SNV A9658A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 291617 chr2 179446710 179446710 C T rs187257105 TTN Nonsynonymous SNV R13064H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 291618 chr12 122958095 122958095 C T rs78310827 ZCCHC8 Synonymous SNV L614L 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.24 291619 chr2 233347590 233347590 C T rs1190429 ECEL1 Synonymous SNV K552K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 15.22 291620 chr12 124821705 124821705 G A rs3741512 NCOR2 Synonymous SNV P1893P 0.003 0 0 0 4 0 0 0 0 0 0 0 8.768 291621 chr2 189907950 189907950 T C COL5A2 Nonsynonymous SNV H1133R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 291622 chr2 202550708 202550708 T C rs371164902 MPP4 Synonymous SNV P142P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.299 291623 chr11 85967534 85967534 A G rs147440081 EED Nonsynonymous SNV I178V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.47 291624 chr2 204822542 204822542 C T rs376555288 ICOS Synonymous SNV H174H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 291625 chr2 220473489 220473489 C T rs542660654 STK11IP Synonymous SNV A596A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.32 291626 chr2 207171572 207171572 C T rs544074324 ZDBF2 Nonsynonymous SNV R774W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 291627 chr12 104044318 104044318 G A rs367579514 STAB2 Nonsynonymous SNV V407M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 291628 chr2 210683938 210683938 G A rs1033725661 UNC80 Nonsynonymous SNV D639N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 291629 chr2 215896559 215896559 G T ABCA12 Nonsynonymous SNV S31R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 291630 chr2 225265872 225265872 A C FAM124B Nonsynonymous SNV L205R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 291631 chr12 101763545 101763545 C T rs142621773 UTP20 Nonsynonymous SNV P2144L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 291632 chr2 230456532 230456532 - GCTGCT rs770786362 DNER S116_D117insSS 0.001 0 0 0 1 0 0 0 0 0 0 0 291633 chr2 233546385 233546385 C T rs147850635 EFHD1 Nonsynonymous SNV R130C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 291634 chr2 220405127 220405127 G A rs140166294 CHPF Nonsynonymous SNV R274C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 291635 chr2 224862903 224862903 C T rs137914245 SERPINE2 Nonsynonymous SNV R139Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 291636 chr2 239180143 239180143 C T rs764704151 PER2 Synonymous SNV A194A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.589 291637 chr19 42797938 42797938 G A rs147920519 CIC Synonymous SNV K1330K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.63 291638 chr19 42853802 42853802 A G rs151116615 MEGF8 Nonsynonymous SNV H750R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.71 291639 chr2 233785178 233785178 G A rs374484969 NGEF Nonsynonymous SNV P123L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 291640 chr2 238296610 238296610 C T rs369957702 COL6A3 Synonymous SNV V103V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.206 291641 chr12 57649776 57649776 C T rs770241018 R3HDM2 Nonsynonymous SNV V845I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 291642 chr3 10312135 10312135 T C rs777645490 TATDN2 Synonymous SNV S423S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.114 291643 chr3 12977560 12977560 C T rs748215013 IQSEC1 Nonsynonymous SNV R319Q 0.002 0 0 0 2 0 0 0 0 0 0 0 12.56 291644 chr3 46775228 46775228 A G rs541277671 PRSS46P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 291645 chr2 242076549 242076549 C T rs141291099 PASK Nonsynonymous SNV R336Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.781 291646 chr3 47316887 47316887 C T rs141006903 KIF9 Nonsynonymous SNV D63N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 291647 chr19 4652301 4652301 C T TNFAIP8L1 Synonymous SNV H140H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 291648 chr3 32927480 32927480 G C rs760954009 TRIM71 Nonsynonymous SNV V359L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 291649 chr3 37152542 37152542 A C rs762611510 LRRFIP2 Nonsynonymous SNV F120L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 291650 chr3 9475538 9475538 T C rs902135442 SETD5 Synonymous SNV S27S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 291651 chr19 50140312 50140312 C T rs200611081 RRAS Nonsynonymous SNV A77T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 291652 chr19 50381766 50381766 C T rs147215692 TBC1D17 Synonymous SNV V11V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 291653 chr3 41268785 41268785 C T rs34343353 CTNNB1 Synonymous SNV S341S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.62 291654 chr12 98925585 98925585 T C rs200016687 TMPO Synonymous SNV N178N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.292 291655 chr3 38050781 38050781 G A rs201094715 PLCD1 Stop gain R551X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 291656 chr3 39135400 39135400 G A rs752625088 WDR48 Nonsynonymous SNV R512Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 291657 chr3 97590848 97590848 C A rs1036294743 CRYBG3 Nonsynonymous SNV D270E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.454 291658 chr13 103419745 103419745 T C TEX30 Nonsynonymous SNV I87V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.34 291659 chr3 39228194 39228194 G A rs757755625 XIRP1 Nonsynonymous SNV R915W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 291660 chr3 50339709 50339709 C T rs143176318 HYAL1 Nonsynonymous SNV A227T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.887 291661 chr13 113508725 113508725 G A rs149989045 ATP11A Synonymous SNV T708T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.65 291662 chr3 44544089 44544092 CTGA - rs756986089 ZNF852 S28Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 291663 chr13 113973889 113973889 A G rs745443481 LAMP1 Nonsynonymous SNV N223S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 291664 chr13 114622482 114622482 G A rs1056572367 LINC00452 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 291665 chr19 55525964 55525964 G C rs201940503 GP6 Nonsynonymous SNV A450G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 291666 chr13 24449017 24449017 C T MIPEP Nonsynonymous SNV E191K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 291667 chr3 48614349 48614349 C T rs147633212 COL7A1 Nonsynonymous SNV E1858K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.4 291668 chr3 48682587 48682587 G A rs138657991 CELSR3 Nonsynonymous SNV A2618V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 291669 chr13 25444711 25444711 G A rs146827961 RNF17 Synonymous SNV V1423V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.29 291670 chr13 109793398 109793398 C T rs763970728 MYO16 Nonsynonymous SNV A1613V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 291671 chr12 56744927 56744927 C T rs149666262 STAT2 Nonsynonymous SNV R330Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 35 291672 chr3 53138108 53138108 G A rs773260379 RFT1 Synonymous SNV D321D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 291673 chr3 58520092 58520092 A G ACOX2 Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.384 291674 chr19 57838077 57838077 C T rs146827949 ZNF543 Synonymous SNV L74L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.222 291675 chr3 97595375 97595375 G A rs909810072 CRYBG3 Synonymous SNV G1779G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.164 291676 chr13 42623060 42623060 C A rs373562177 DGKH Nonsynonymous SNV L51M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 32 291677 chr3 69915472 69915472 C T rs530342719 MITF Nonsynonymous SNV P11S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 291678 chr3 127339706 127339706 A G rs150230243 MCM2 Nonsynonymous SNV M811V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.47 291679 chr3 100582901 100582901 C T rs748948193 ABI3BP Synonymous SNV P368P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.719 291680 chr3 97595722 97595724 CAC - CRYBG3 P1896del 0.001 0 0 0 1 0 0 0 0 0 0 0 291681 chr13 48830313 48830313 C T rs201982776 ITM2B Nonsynonymous SNV P83S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 291682 chr12 68051434 68051434 C A rs367844107 DYRK2 Synonymous SNV A176A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.696 291683 chr12 69651630 69651630 T G rs765723351 CPSF6 Synonymous SNV G213G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.348 291684 chr13 52531716 52531716 G A rs751710854 ATP7B Nonsynonymous SNV L633F 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 28.3 291685 chr3 105572460 105572460 A C CBLB Nonsynonymous SNV Y101D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 291686 chr3 122146413 122146413 A G rs375851718 KPNA1 Synonymous SNV P467P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.898 291687 chr12 75900570 75900570 A G KRR1 Nonsynonymous SNV F129L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23 291688 chr3 138176424 138176424 C T ESYT3 Synonymous SNV N173N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.147 291689 chr3 138664876 138664884 GCAGCTGCT - FOXL2 A232_A234del 0.002 0 0 0 2 0 0 0 0 0 0 0 291690 chr19 8555360 8555361 AG - rs770334314 PRAM1 L647Gfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 291691 chr3 142731131 142731136 ATAATT - U2SURP N54_Y55del 0.001 0 0 0 1 0 0 0 0 0 0 0 291692 chr3 122865104 122865104 A T rs376677056 PDIA5 Nonsynonymous SNV Q380H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 291693 chr1 100343205 100343205 G A rs527819721 AGL Nonsynonymous SNV V478I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27 291694 chr13 96743258 96743258 C G rs199618938 HS6ST3 Nonsynonymous SNV P48A 0.003 0 0 0 4 0 0 0 0 0 0 0 13.88 291695 chr3 126733081 126733081 G A rs555510429 PLXNA1 Nonsynonymous SNV D823N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.34 291696 chr3 129286415 129286415 G C rs760872411 PLXND1 Nonsynonymous SNV L1336V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 291697 chr13 103392480 103392480 T - CCDC168 T3523Hfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 291698 chr14 23518276 23518276 G A rs200046002 CDH24 Synonymous SNV G602G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 291699 chr3 128684517 128684517 C T rs993547056 KIAA1257 Nonsynonymous SNV R106H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 291700 chr14 23994119 23994119 T G ZFHX2 Nonsynonymous SNV T1678P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 291701 chr3 148880656 148880656 G A rs201221505 HPS3 Synonymous SNV S659S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.66 291702 chr3 150612007 150612007 G A MINDY4B Nonsynonymous SNV S132F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 291703 chr1 1247930 1247930 G A rs369557926 MIR6727 0 0 0.003 0 0 0 0 1 0 0 0 0 0.791 291704 chr1 1262635 1262635 T A rs142934629 CPTP Nonsynonymous SNV L46Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 291705 chr3 136323286 136323286 T C rs746614763 STAG1 Synonymous SNV P54P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.79 291706 chr3 158450094 158450094 G A RARRES1 Synonymous SNV P37P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.65 291707 chr3 160156357 160156357 C T rs369853660 TRIM59 Synonymous SNV T205T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 291708 chr3 169998037 169998037 G A rs200726509 PRKCI Nonsynonymous SNV G243D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 291709 chr14 23792242 23792242 G A rs144896214 BCL2L2-PABPN1, PABPN1 Nonsynonymous SNV M39I 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 291710 chr13 45147925 45147925 C T rs760716785 TSC22D1 Synonymous SNV S762S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.871 291711 chr14 53180673 53180673 A G rs77074605 PSMC6 Synonymous SNV L71L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 291712 chr14 53417158 53417158 G C rs61741989 FERMT2 Synonymous SNV G43G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.27 291713 chr4 2252361 2252361 C T rs150472242 MXD4 Synonymous SNV A180A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.18 291714 chr3 184104650 184104650 T C CHRD Synonymous SNV C738C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.039 291715 chr4 1207348 1207348 G A rs760425578 CTBP1 Synonymous SNV T313T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.683 291716 chr1 156255635 156255635 C T rs36114587 TMEM79 Synonymous SNV A206A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 291717 chr3 180325561 180325561 C G rs113785546 TTC14 Nonsynonymous SNV P433R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 291718 chr3 183479998 183479998 G C rs375768691 YEATS2 Synonymous SNV V626V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.688 291719 chr13 76378638 76378638 C G rs369232866 LMO7 Nonsynonymous SNV A59G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 291720 chr3 194337847 194337847 C T rs369611318 TMEM44 Nonsynonymous SNV R255H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 291721 chr3 194373713 194373713 C A rs776871983 LSG1 Nonsynonymous SNV E306D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 291722 chr3 197751647 197751647 C T rs377164514 LMLN Synonymous SNV S548S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 291723 chr1 161049438 161049438 G A rs747262075 NECTIN4 Synonymous SNV C127C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.639 291724 chr4 1018898 1018898 C T rs752283163 FGFRL1 Synonymous SNV R426R 0.002 0 0 0 2 0 0 0 0 0 0 0 3.752 291725 chr4 1656836 1656836 C T rs200357652 FAM53A Nonsynonymous SNV G251R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.75 291726 chr14 104488501 104488501 G A rs372317574 TDRD9 Nonsynonymous SNV V814M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 291727 chr4 1656856 1656856 G A rs115785763 FAM53A Nonsynonymous SNV T244M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 291728 chr4 1656883 1656883 G C rs201035222 FAM53A Nonsynonymous SNV P235R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.13 291729 chr14 77844668 77844668 G C rs756726253 SAMD15 Nonsynonymous SNV E303Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.033 291730 chr1 17418973 17418973 G A rs746689551 PADI2 Synonymous SNV P195P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 291731 chr4 7677796 7677796 C T rs373750171 SORCS2 Nonsynonymous SNV T394M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 291732 chr14 92470407 92470407 G C TRIP11 Nonsynonymous SNV L1304V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 291733 chr14 88983563 88983563 G A rs370554337 PTPN21 Nonsynonymous SNV R75C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 291734 chr14 21238571 21238571 C T rs546480162 EDDM3B Nonsynonymous SNV R88C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 291735 chr14 93755016 93755016 C T BTBD7 Synonymous SNV E400E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.019 291736 chr1 183881318 183881318 C T rs200231274 RGL1 Synonymous SNV S526S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 291737 chr1 184041317 184041317 G A rs184488794 TSEN15 Nonsynonymous SNV R127Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 291738 chr14 23859425 23859425 G A rs727505358 MYH6 Synonymous SNV A1191A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 11.42 291739 chr4 39291595 39291595 G T rs775671826 RFC1 Nonsynonymous SNV A1052D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 291740 chr4 8616132 8616132 G A rs376761004 CPZ Synonymous SNV T459T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.589 291741 chr14 24885812 24885812 C A NYNRIN Synonymous SNV I1619I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 291742 chr15 27772655 27772655 C T rs764060171 GABRG3 Synonymous SNV T314T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 291743 chr15 34396266 34396266 G A rs768046561 PGBD4 Nonsynonymous SNV D512N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 291744 chr4 11401525 11401525 C T rs748938683 HS3ST1 Synonymous SNV G35G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.933 291745 chr1 201489209 201489209 T C RPS10P7 0 0 0.003 0 0 0 0 1 0 0 0 0 8.821 291746 chr4 17616294 17616294 G T rs144722957 MED28 Nonsynonymous SNV G6V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 291747 chr4 95578591 95578591 C T rs763438199 PDLIM5 Nonsynonymous SNV A168V 0.001 0 0 0 1 0 0 0 0 0 0 0 35 291748 chr4 54255991 54255991 A C rs143506497 FIP1L1 Synonymous SNV A101A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.027 291749 chr14 52188778 52188778 G A rs141150475 FRMD6 Nonsynonymous SNV R133Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 291750 chr1 210010510 210010510 T A UTP25 Nonsynonymous SNV V339E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 291751 chr4 100503218 100503218 A G MTTP Nonsynonymous SNV D100G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 291752 chr15 45391668 45391668 G A DUOX2 Nonsynonymous SNV A1143V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 291753 chr1 220826649 220826649 C T rs145392116 MARK1 Nonsynonymous SNV T626M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 291754 chr15 45393416 45393416 - C rs775863038 DUOX2 Frameshift insertion T970Dfs*152 0.001 0 0 0 1 0 0 0 0 0 0 0 291755 chr14 61747481 61747481 C A rs755462456 TMEM30B Nonsynonymous SNV D129Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 291756 chr1 22166329 22166329 C T rs758945882 HSPG2 Nonsynonymous SNV R3233H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 291757 chr15 49716654 49716654 A G FGF7 Nonsynonymous SNV R54G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 291758 chr4 85414573 85414573 C A NKX6-1 Nonsynonymous SNV D325Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 291759 chr4 85642622 85642622 T C rs749503655 WDFY3 Nonsynonymous SNV I2515M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 291760 chr14 68028893 68028893 C T rs200696869 PLEKHH1 Nonsynonymous SNV P182L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.921 291761 chr4 113353509 113353509 G T ALPK1 Nonsynonymous SNV A858S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.153 291762 chr4 77003306 77003306 C G rs373658035 ART3 Nonsynonymous SNV F133L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 291763 chr14 68238847 68238847 C T rs138965635 ZFYVE26 Nonsynonymous SNV A1801T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 291764 chr4 89384739 89384739 G A rs778345432 HERC5 Nonsynonymous SNV A249T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 291765 chr4 90856824 90856824 T C MMRN1 Nonsynonymous SNV Y665H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 291766 chr4 79860279 79860279 C T PAQR3 Nonsynonymous SNV E34K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 291767 chr1 228346346 228346346 A G GJC2 Nonsynonymous SNV D296G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 291768 chr15 63638787 63638787 G A rs139241902 CA12 Synonymous SNV F76F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.57 291769 chr15 63990987 63990987 A G rs183519177 HERC1 Synonymous SNV S1615S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.531 291770 chr15 64215327 64215327 G A rs112999463 DAPK2 Synonymous SNV D358D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 291771 chr15 64218142 64218142 G A rs34104782 DAPK2 Synonymous SNV T270T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.78 291772 chr15 64221736 64221736 T - rs112639958 LOC101928988 0.001 0 0 0 1 0 0 0 0 0 0 0 291773 chr1 228529899 228529899 G A rs760529711 OBSCN Synonymous SNV T6038T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.148 291774 chr1 22987351 22987351 A G rs746836733 C1QB Synonymous SNV G78G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.572 291775 chr4 140811129 140811129 T C rs62344941 MAML3 Synonymous SNV Q487Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 291776 chr15 65759103 65759103 A C DPP8 Nonsynonymous SNV C580G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 291777 chr15 66786782 66786782 C G rs150019625 SNAPC5 Nonsynonymous SNV D67H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 291778 chr15 66791919 66791919 C T rs777386007 RPL4 Synonymous SNV A370A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 291779 chr14 93460298 93460298 G A rs781091690 ITPK1 Synonymous SNV L97L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.585 291780 chr4 107249318 107249318 A C rs151123024 AIMP1 Synonymous SNV T103T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 291781 chr4 164428291 164428291 - G rs777393095 TMA16 Frameshift insertion E38Gfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 291782 chr4 123165039 123165039 C G rs200887993 KIAA1109 Synonymous SNV L1591L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.621 291783 chr4 126239782 126239782 A G rs200512777 FAT4 Nonsynonymous SNV N739S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.839 291784 chr4 139163197 139163197 G A rs116480696 SLC7A11 Synonymous SNV T9T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 291785 chr1 247614785 247614785 G A rs149375684 OR2B11 Nonsynonymous SNV T167M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 291786 chr4 184203952 184203952 T A rs143431515 WWC2 Nonsynonymous SNV L926I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.252 291787 chr4 184242949 184242949 G A rs142081383 CLDN24 Synonymous SNV L211L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.998 291788 chr4 123151234 123151234 G C rs570940886 KIAA1109 Nonsynonymous SNV R1064T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 291789 chr15 102358853 102358853 A G rs752674618 OR4F15 Nonsynonymous SNV H155R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 291790 chr15 23890073 23890073 G A rs376791514 MAGEL2 Synonymous SNV T939T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.146 291791 chr15 23892329 23892329 G T MAGEL2 Synonymous SNV T187T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.365 291792 chr15 23892341 23892341 A G MAGEL2 Synonymous SNV P183P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.566 291793 chr15 23892350 23892350 C A MAGEL2 Synonymous SNV V180V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.098 291794 chr15 23892351 23892351 A G rs58729661 MAGEL2 Nonsynonymous SNV V180A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.533 291795 chr15 30008992 30008992 C T rs200759674 TJP1 Nonsynonymous SNV R1262Q 0.003 0 0 0 3 0 0 0 0 0 0 0 35 291796 chr5 454054 454054 C T EXOC3 Synonymous SNV L312L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.684 291797 chr15 89414673 89414673 C T rs761543122 ACAN Nonsynonymous SNV P2298L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 291798 chr1 33836619 33836619 G A rs747306048 PHC2 Nonsynonymous SNV S137L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 291799 chr15 90208918 90208918 G A rs780710485 PLIN1 Nonsynonymous SNV R489C 0.003 0 0 0 3 0 0 0 0 0 0 0 32 291800 chr15 89876969 89876969 C G rs1057524249 POLG Nonsynonymous SNV W6S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 23.1 291801 chr5 38458472 38458472 G A rs202035735 EGFLAM Nonsynonymous SNV R59Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 291802 chr15 90784679 90784679 G A rs557009666 GDPGP1 Nonsynonymous SNV R180H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 291803 chr5 163445 163445 C T rs770724546 PLEKHG4B Synonymous SNV F1086F 0.002 0 0 0 2 0 0 0 0 0 0 0 10.68 291804 chr5 32135777 32135777 C T GOLPH3 Nonsynonymous SNV D125N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 291805 chr1 47512171 47512171 T C rs372889638 CYP4X1 Nonsynonymous SNV M368T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 291806 chr16 19883725 19883725 C T rs996152159 GPRC5B Nonsynonymous SNV R279Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 291807 chr5 1878838 1878838 C G rs372495725 IRX4 Nonsynonymous SNV E269Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 291808 chr15 62232847 62232847 T C rs771393177 VPS13C Nonsynonymous SNV Q1824R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 291809 chr5 3600191 3600191 A G rs760659435 IRX1 Nonsynonymous SNV S377G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 291810 chr15 64972995 64972997 CAC - rs780942370 ZNF609 H1371del 0.001 0 0 0 1 0 0 0 0 0 0 0 291811 chr16 21048118 21048118 T G DNAH3 Nonsynonymous SNV E1622A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 291812 chr15 66048653 66048653 T C rs780824141 DENND4A Nonsynonymous SNV T46A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 291813 chr15 66411515 66411515 A C MEGF11 Stop gain Y70X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 291814 chr16 22176949 22176949 G T rs1049108465 SDR42E2 Nonsynonymous SNV A16S 0.003 0 0 0 3 0 0 0 0 0 0 0 8.444 291815 chr16 30005362 30005362 C T HIRIP3 Synonymous SNV E368E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.458 291816 chr5 96129217 96129217 C G ERAP1 0.002 0 0 0 2 0 0 0 0 0 0 0 26 291817 chr1 67390467 67390467 - G rs776252304 WDR78 Frameshift insertion G17Rfs*52 0 0 0.003 0 0 0 0 1 0 0 0 0 291818 chr1 75218040 75218040 A G TYW3 Nonsynonymous SNV E131G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 291819 chr15 79749651 79749651 C A rs371598881 MINAR1 Nonsynonymous SNV P388T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291820 chr1 78422303 78422303 T C rs781246895 FUBP1 Synonymous SNV P553P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.76 291821 chr5 96097979 96097979 A G rs61744247 CAST Nonsynonymous SNV K475R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.769 291822 chr5 96112182 96112182 A G rs139576768 ERAP1 Nonsynonymous SNV I915T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 29.3 291823 chr5 96124247 96124247 C T rs61734613 ERAP1 Nonsynonymous SNV A556T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.773 291824 chr1 871176 871176 C T rs369777247 SAMD11 Synonymous SNV L110L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.3 291825 chr1 871215 871215 C T rs28419423 SAMD11 Synonymous SNV P123P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.28 291826 chr5 75991420 75991420 C T rs17681908 IQGAP2 Nonsynonymous SNV R875W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 35 291827 chr16 457523 457523 T C rs967883350 DECR2 Synonymous SNV A100A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.529 291828 chr16 49669907 49669907 C T rs117592972 ZNF423 Synonymous SNV A935A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.633 291829 chr5 112889381 112889381 T C YTHDC2 Synonymous SNV H354H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 291830 chr5 81549133 81549133 G A rs773849831 ATG10 Synonymous SNV K184K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.043 291831 chr16 57003829 57003829 G A rs778814831 CETP Nonsynonymous SNV C148Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 291832 chr16 1259405 1259405 C T rs571145188 CACNA1H Nonsynonymous SNV S1246L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.69 291833 chr5 137520204 137520204 G A rs372591952 KIF20A Nonsynonymous SNV V508M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 291834 chr20 18523693 18523693 C T SEC23B Synonymous SNV H514H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 291835 chr5 140181733 140181733 A C rs200090365 PCDHA3 Nonsynonymous SNV E317D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 291836 chr5 140263181 140263181 T G rs782411315 PCDHA13 Nonsynonymous SNV V443G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 291837 chr5 118274965 118274965 T G rs150127381 DTWD2 Synonymous SNV T44T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 291838 chr5 126156631 126156631 G A rs746416284 LMNB1 Nonsynonymous SNV R187H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.4 291839 chr5 140573094 140573094 C T rs199921937 PCDHB10 Synonymous SNV D323D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 291840 chr5 140720610 140720611 TG - rs781539158 PCDHGA2 Y692Pfs*94 0.001 0 0 0 1 0 0 0 0 0 0 0 291841 chr16 1720699 1720699 G T rs745972962 CRAMP1 Nonsynonymous SNV M1178I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 291842 chr16 1828282 1828282 G A rs74002455 SPSB3 Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.759 291843 chr16 1836818 1836818 G A rs142740376 NUBP2 Nonsynonymous SNV G66S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 291844 chr5 132158556 132158556 G T rs147883343 SHROOM1 Nonsynonymous SNV P826T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 291845 chr16 77228833 77228833 C T rs892467032 MON1B Synonymous SNV A213A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.56 291846 chr16 19058389 19058389 C T rs775091387 TMC7 Synonymous SNV L178L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 291847 chr5 140867006 140867006 T A rs201458212 PCDHGC4 Nonsynonymous SNV S756T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.899 291848 chr16 19184881 19184881 G T SYT17 Nonsynonymous SNV A51S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 291849 chr16 75148543 75148543 G A rs369212691 LDHD Synonymous SNV T170T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 291850 chr5 148408078 148408078 C A rs761907624 SH3TC2 Nonsynonymous SNV R406I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.538 291851 chr16 78420799 78420799 C G WWOX Nonsynonymous SNV L74V 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 291852 chr16 20976052 20976052 G A rs201833802 DNAH3 Nonsynonymous SNV R3006C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 291853 chr5 140012525 140012525 A G rs749780180 CD14 Nonsynonymous SNV V15A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.448 291854 chr5 149435800 149435800 G A CSF1R Synonymous SNV N808N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.729 291855 chr20 34242695 34242695 T C rs200060933 RBM12 Nonsynonymous SNV T184A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 291856 chr16 22359138 22359138 G A rs113655596 CDR2 Synonymous SNV F171F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 291857 chr5 139189343 139189343 G A rs200340393 PSD2 Synonymous SNV E106E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.386 291858 chr16 84529363 84529363 C T rs984673876 MEAK7 Nonsynonymous SNV E104K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291859 chr5 141694586 141694586 G A rs200531302 SPRY4 Nonsynonymous SNV R30W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.5 291860 chr16 88498696 88498696 C G ZNF469 Synonymous SNV P1606P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.562 291861 chr16 30736276 30736276 C A rs78037619 SRCAP Nonsynonymous SNV S1844Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 291862 chr16 3740856 3740856 C T rs778020396 TRAP1 Synonymous SNV S73S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.86 291863 chr16 88780150 88780150 C T rs2340974 CTU2 Synonymous SNV S236S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.43 291864 chr16 88780636 88780645 GTGTGGGTGT - rs562672342 CTU2 0.002 0 0 0 2 0 0 0 0 0 0 0 291865 chr16 88781062 88781062 G A rs28672793 CTU2 Synonymous SNV L336L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 1.566 291866 chr16 88781082 88781082 C T rs61744519 CTU2 Nonsynonymous SNV P343L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.749 291867 chr16 88783002 88783002 G A rs34325377 PIEZO1 Synonymous SNV A2297A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.647 291868 chr16 88787082 88787082 G T rs13338527 PIEZO1 Nonsynonymous SNV R1915S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 8.484 291869 chr16 88788709 88788709 T C rs35375982 PIEZO1 Synonymous SNV A1624A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.375 291870 chr16 88798181 88798181 G A rs61742732 PIEZO1 Synonymous SNV L1043L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.129 291871 chr5 176396651 176396651 C T rs148796674 UIMC1 Synonymous SNV P138P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.672 291872 chr20 57581410 57581410 A G rs780471774 CTSZ Nonsynonymous SNV C92R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 291873 chr16 4043491 4043491 G A rs374527731 ADCY9 Synonymous SNV I635I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 291874 chr5 176910908 176910908 G A PDLIM7 Nonsynonymous SNV A416V 0 0 0 1 0 0 0.003 0 0 0 0 0 34 291875 chr16 4414283 4414283 G A rs199760152 CORO7, CORO7-PAM16 Synonymous SNV D338D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.821 291876 chr5 176942067 176942067 - A rs745800400 DDX41 Frameshift insertion S91Ifs*4 0 0 0 1 0 0 0.003 0 0 0 0 0 291877 chr5 141694698 141694698 G A rs764075141 SPRY4 Synonymous SNV S15S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 291878 chr16 47630348 47630348 C A rs769068970 PHKB Nonsynonymous SNV N423K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 291879 chr16 89347256 89347256 C A rs771476134 ANKRD11 Synonymous SNV L1898L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.429 291880 chr16 89790079 89790079 T C ZNF276 Nonsynonymous SNV F323S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.142 291881 chr5 180329398 180329398 T C rs538241474 BTNL8 0.001 0 0 0 1 0 0 0 0 0 0 0 2.05 291882 chr16 56914159 56914159 A G rs147046379 SLC12A3 Nonsynonymous SNV I521V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.02 291883 chr6 7584855 7584855 C G rs373890201 DSP Nonsynonymous SNV Q1855E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.25 291884 chr5 176562706 176562706 A G rs758743317 NSD1 Nonsynonymous SNV N201S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 291885 chr21 15755417 15755417 T C rs775681924 HSPA13 Synonymous SNV L8L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 291886 chr6 11190305 11190305 G A rs748258645 NEDD9 Synonymous SNV H450H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 291887 chr6 6251138 6251138 T C F13A1 Nonsynonymous SNV E199G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 291888 chr16 629084 629084 G A rs201270418 PIGQ Synonymous SNV K413K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.27 291889 chr16 67918841 67918841 G A rs754866222 NRN1L Nonsynonymous SNV R12Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.847 291890 chr5 179105586 179105586 A C rs538946054 CBY3 X243G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 291891 chr16 71773190 71773190 G C rs904763 AP1G1 Nonsynonymous SNV P685R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 291892 chr17 18218078 18218078 G T TOP3A Synonymous SNV V5V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.605 291893 chr5 176315479 176315479 G A rs760212371 HK3 Synonymous SNV H386H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.744 291894 chr16 727934 727934 G A rs749227263 RHBDL1 Nonsynonymous SNV R260Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 291895 chr16 72831301 72831301 C T rs141411245 ZFHX3 Synonymous SNV L846L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.221 291896 chr17 26885508 26885508 A G PIGS Nonsynonymous SNV V307A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 291897 chr6 13281271 13281271 T C LOC100130357 0.001 0 0 0 1 0 0 0 0 0 0 0 0.918 291898 chr16 813690 813690 A G rs373859841 MSLN Nonsynonymous SNV S60G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 291899 chr17 33479993 33479993 C T rs199997253 UNC45B Nonsynonymous SNV R155W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 291900 chr6 2785345 2785345 G T rs145497162 WRNIP1 Synonymous SNV G609G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.215 291901 chr6 35837321 35837321 C T rs763268578 SRPK1 Nonsynonymous SNV R450Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 291902 chr6 36672093 36672093 T G RAB44 Nonsynonymous SNV D27E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.888 291903 chr17 3494491 3494491 G A rs200647940 TRPV1 Synonymous SNV N147N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 291904 chr6 41250288 41250288 C T TREM1 Nonsynonymous SNV R84K 0.002 0 0 0 2 0 0 0 0 0 0 0 3.522 291905 chr6 42713694 42713694 C A rs776874627 TBCC Nonsynonymous SNV V40F 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 291906 chr22 21800292 21800292 G A rs763630663 HIC2 Nonsynonymous SNV G370R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 291907 chr16 85111198 85111198 C T rs527357177 KIAA0513 Synonymous SNV L248L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 291908 chr16 85133836 85133836 G C rs763063064 FAM92B Nonsynonymous SNV A221G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 291909 chr6 42994973 42994973 C G rs201033484 RRP36 Nonsynonymous SNV Q165E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.722 291910 chr6 43968857 43968857 G A rs200667175 C6orf223 0.003 0 0 0 3 0 0 0 0 0 0 0 2.821 291911 chr6 34803968 34803968 G T UHRF1BP1 Nonsynonymous SNV W292C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 291912 chr6 56458552 56458552 T C DST Nonsynonymous SNV D1589G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.286 291913 chr6 35258107 35258107 G A rs200299187 ZNF76 Nonsynonymous SNV R166H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291914 chr17 38556259 38556259 C G TOP2A Nonsynonymous SNV D1021H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 291915 chr6 38654668 38654668 G A rs150725457 GLO1 Nonsynonymous SNV T56M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 291916 chr6 51890326 51890326 G T rs199552642 PKHD1 Nonsynonymous SNV P1428T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 291917 chr22 32506031 32506031 T C SLC5A1 Nonsynonymous SNV F482S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 291918 chr6 42672231 42672231 A G PRPH2 Nonsynonymous SNV Y234H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 291919 chr6 89808372 89808372 T C rs533344906 SRSF12 Synonymous SNV K237K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 291920 chr6 70082311 70082311 G A rs1046244884 ADGRB3 Nonsynonymous SNV R1418Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 291921 chr17 40844605 40844605 C T CNTNAP1 Synonymous SNV D873D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 291922 chr6 90385206 90385206 G C rs139770253 MDN1 Synonymous SNV L4246L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.197 291923 chr6 43098393 43098393 G A rs78949718 PTK7 Nonsynonymous SNV R277H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 291924 chr6 43146549 43146549 G A rs761326401 SRF Nonsynonymous SNV V250I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 291925 chr6 90402702 90402702 C G rs150775665 MDN1 Synonymous SNV R3349R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.786 291926 chr6 43413583 43413583 C T rs773675473 ABCC10 Nonsynonymous SNV R1065W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 291927 chr6 43418647 43418647 T A rs141543597 DLK2 Nonsynonymous SNV D224V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.987 291928 chr17 43005557 43005557 C T rs200684437 KIF18B Nonsynonymous SNV A717T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 291929 chr6 44376206 44376206 T C rs200087867 CDC5L Nonsynonymous SNV V310A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.3 291930 chr6 83838852 83838852 G A rs147987838 DOP1A Nonsynonymous SNV V647I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 291931 chr6 46657001 46657001 A G rs143137095 TDRD6 Nonsynonymous SNV Y379C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 291932 chr17 39913896 39913896 G A rs368772249 JUP Synonymous SNV N638N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.82 291933 chr17 40042411 40042411 G C rs141606581 ACLY Nonsynonymous SNV R720G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 291934 chr6 47626744 47626744 G C ADGRF2 Nonsynonymous SNV K41N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.85 291935 chr6 47681542 47681542 T C rs146761784 ADGRF4 Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 291936 chr22 45218341 45218341 A C rs780986741 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV E159D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 291937 chr6 99365567 99365567 T C rs150748757 FBXL4 Nonsynonymous SNV T181A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 11 291938 chr17 46690630 46690630 T C rs376484541 HOXB8 Synonymous SNV K222K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.947 291939 chr6 100838419 100838419 C G rs74726213 SIM1 Nonsynonymous SNV D707H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26.2 291940 chr17 48185708 48185708 G A PDK2 Nonsynonymous SNV S199N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.85 291941 chr6 109330635 109330635 G A rs142983751 SESN1 Nonsynonymous SNV A10V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 291942 chr6 70854867 70854867 G C rs749679943 COL19A1 Nonsynonymous SNV G580R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 291943 chr6 75893013 75893013 G T rs147111006 COL12A1 Synonymous SNV I548I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.921 291944 chr6 79607982 79607982 A G rs775684083 IRAK1BP1 Nonsynonymous SNV I238M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 291945 chr6 80196809 80196809 C A rs371733166 LCA5 Nonsynonymous SNV R669M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 291946 chr17 58151184 58151184 A G rs774773599 HEATR6 Nonsynonymous SNV C131R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291947 chr2 109400355 109400355 T C rs753167798 RANBP2 X3225Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.57 291948 chr17 61611666 61611666 C T rs773843120 KCNH6 Synonymous SNV S365S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 291949 chr17 33495317 33495317 G A rs144405707 UNC45B Synonymous SNV V463V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.381 291950 chr17 56270790 56270790 A C EPX Nonsynonymous SNV K77Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291951 chr6 105609390 105609390 C T rs41285460 POPDC3 Nonsynonymous SNV S132N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 291952 chr17 62577002 62577002 G A rs370672485 SMURF2 Nonsynonymous SNV P226L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 291953 chr17 6328869 6328869 - GGGTGGCTCTGC rs776145713 AIPL1 P292_T293insAEPP 0.003 0 0 0 3 0 0 0 0 0 0 0 291954 chr6 109319750 109319750 T G rs1034106509 SESN1 Nonsynonymous SNV D254A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 291955 chr6 109175480 109175480 C T ARMC2 Nonsynonymous SNV P4S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.727 291956 chr17 56647838 56647838 A C rs377618046 TEX14 Nonsynonymous SNV L1242W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.37 291957 chr6 143093844 143093844 C T rs142125678 HIVEP2 Nonsynonymous SNV V678M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 291958 chr17 34893748 34893748 C T rs368650542 PIGW Synonymous SNV L266L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.276 291959 chr17 34893919 34893919 G A PIGW Synonymous SNV G323G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.246 291960 chr17 63156441 63156441 G A rs199644053 RGS9 Nonsynonymous SNV S99N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.8 291961 chr17 7010382 7010382 C A rs143418782 ASGR2 Nonsynonymous SNV E181D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.05 291962 chr6 152722333 152722333 C T rs140986546 SYNE1 Synonymous SNV V2330V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.08 291963 chr6 127651989 127651989 G A ECHDC1 Nonsynonymous SNV T62I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 291964 chr6 131199337 131199337 T C EPB41L2 Synonymous SNV E650E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.458 291965 chr6 129963048 129963048 C T rs146502081 ARHGAP18 Nonsynonymous SNV D77N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 291966 chr17 7287483 7287483 C T TNK1 Synonymous SNV I259I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 291967 chr6 136594243 136594243 C A rs142595249 BCLAF1 Synonymous SNV R643R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 291968 chr6 142691824 142691824 C T rs374589905 ADGRG6 Synonymous SNV I321I 0.001 0 0 0 1 0 0 0 0 0 0 0 12 291969 chr17 73519412 73519412 G A rs748999529 TSEN54 Nonsynonymous SNV A437T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291970 chr17 73502730 73502730 G A rs775021513 CASKIN2 Nonsynonymous SNV P102L 0.003 0 0 0 3 0 0 0 0 0 0 0 26.2 291971 chr6 144207959 144207959 G A ZC2HC1B 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291972 chr17 73922225 73922225 G A FBF1 Nonsynonymous SNV R252C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 291973 chr17 73643630 73643630 G A rs772695722 SMIM6 Synonymous SNV A58A 0.003 0 0 0 3 0 0 0 0 0 0 0 8.733 291974 chr7 2752356 2752356 C T rs553255676 AMZ1 Synonymous SNV L447L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.897 291975 chr17 74383132 74383132 G T rs147360809 SPHK1 Nonsynonymous SNV R207L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.934 291976 chr17 74568780 74568780 G A rs773233116 ST6GALNAC2 Nonsynonymous SNV T203M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 291977 chr2 179358630 179358630 C G PLEKHA3 Nonsynonymous SNV L122V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 291978 chr2 179640223 179640223 C T rs530807674 TTN Nonsynonymous SNV R2077Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.1 291979 chr17 76472680 76472680 T C rs200518254 DNAH17 Nonsynonymous SNV M2710V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.004 291980 chr6 159621563 159621563 T C rs768286329 FNDC1 Nonsynonymous SNV I137T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 291981 chr17 76506553 76506553 T G DNAH17 Synonymous SNV A1383A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.551 291982 chr17 76557879 76557879 C T rs150278912 DNAH17 Nonsynonymous SNV V585M 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 291983 chr6 160230046 160230046 G A PNLDC1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 291984 chr7 6485687 6485687 G C rs758707876 DAGLB Nonsynonymous SNV D48E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 291985 chr7 17854487 17854487 G A SNX13 Synonymous SNV Y689Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.089 291986 chr7 881675 881675 G A SUN1 Nonsynonymous SNV G120D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.561 291987 chr17 79226014 79226014 G C rs137924826 SLC38A10 Synonymous SNV P642P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.017 291988 chr17 79503288 79503288 T C rs370080793 FSCN2 Nonsynonymous SNV F367S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.15 291989 chr7 2632707 2632707 G A rs199837712 IQCE Synonymous SNV L367L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 291990 chr7 31013743 31013743 C T rs151019928 GHRHR Synonymous SNV L247L 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.39 291991 chr7 44266124 44266124 G A CAMK2B Nonsynonymous SNV P530S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 291992 chr7 39379326 39379326 G A rs769508733 POU6F2 Synonymous SNV P228P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.191 291993 chr17 62022755 62022755 T C rs746126027 SCN4A Nonsynonymous SNV N1229D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 291994 chr7 23823216 23823216 T C rs139358697 STK31 Synonymous SNV S671S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.415 291995 chr17 650480 650480 T C rs745658514 GEMIN4 Nonsynonymous SNV K268R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 291996 chr18 29622210 29622210 A G rs144268137 RNF125 Synonymous SNV L129L 0.004 0 0 0 5 0 0 0 1 0 0 0 Benign 14.17 291997 chr7 71275463 71275463 C T rs766266814 CALN1 Synonymous SNV R130R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 291998 chr7 73038636 73038636 G A rs201642447 MLXIPL Nonsynonymous SNV P63S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 291999 chr17 7010589 7010589 G A rs575606476 ASGR2 Nonsynonymous SNV R139C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 292000 chr7 77256222 77256222 A G rs780590972 PTPN12 Nonsynonymous SNV Y279C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 292001 chr7 73151595 73151595 G A rs781862458 ABHD11 Nonsynonymous SNV R84C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 292002 chr2 231948329 231948329 A G rs199791094 PSMD1 Nonsynonymous SNV N525S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.243 292003 chr17 71346502 71346502 T A rs767237872 SDK2 Nonsynonymous SNV K1971M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 292004 chr2 233752785 233752785 C T NGEF Synonymous SNV E343E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 292005 chr7 99516908 99516908 G C rs575184410 TRIM4 Nonsynonymous SNV N39K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.739 292006 chr7 44152379 44152379 T C AEBP1 Nonsynonymous SNV W814R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 292007 chr18 51898862 51898862 T G rs770508512 C18orf54 Nonsynonymous SNV H271Q 0.004 0 0.003 0 5 0 0 1 1 0 0 0 18 292008 chr17 72368265 72368265 A G rs771931723 GPR142 Synonymous SNV S217S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 292009 chr17 76230023 76230023 C G TMEM235 Nonsynonymous SNV L80V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.98 292010 chr7 100470844 100470844 G A rs376010197 TRIP6 Synonymous SNV P450P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.17 292011 chr7 86468331 86468331 C T rs566982395 GRM3 Nonsynonymous SNV R501W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 292012 chr7 100482129 100482129 C T rs375882161 SRRT Nonsynonymous SNV R300C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 292013 chr18 54591217 54591217 C A rs137951158 WDR7 Synonymous SNV I1164I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 292014 chr7 89854639 89854639 T G rs752585858 STEAP2 Nonsynonymous SNV D81E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.657 292015 chr7 99097271 99097271 G A rs914605638 ZNF394 Nonsynonymous SNV T149I 0.003 0 0 0 4 0 0 0 0 0 0 0 17.34 292016 chr7 99506360 99506360 C - TRIM4 D189Tfs*7 0.002 0 0 0 2 0 0 0 0 0 0 0 292017 chr7 100481732 100481732 G A rs777364262 SRRT Nonsynonymous SNV R210Q 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 292018 chr7 55467721 55467721 C T LANCL2 Nonsynonymous SNV A201V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 292019 chr17 78293195 78293195 C T rs200625556 RNF213 Nonsynonymous SNV P1036L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.81 292020 chr7 64864130 64864130 C G rs146198025 ZNF92 Nonsynonymous SNV P292R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 292021 chr17 78338303 78338303 G A rs147900479 RNF213 Nonsynonymous SNV V3941I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 0.137 292022 chr7 100463775 100463775 C T rs145941674 SLC12A9 Nonsynonymous SNV R622W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 292023 chr17 79170601 79170601 C T rs141687608 CEP131 Nonsynonymous SNV R600Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 292024 chr18 60243764 60243764 C T rs777502638 ZCCHC2 Synonymous SNV Y1163Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 292025 chr7 77256154 77256154 A C PTPN12 Nonsynonymous SNV R256S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292026 chr7 96651520 96651520 A G DLX5 Nonsynonymous SNV S173P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 292027 chr7 102086989 102086989 G A rs566365780 ORAI2 Synonymous SNV T8T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.9 292028 chr7 99023149 99023149 C A rs74957206 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV D336Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 292029 chr7 100732262 100732262 G A rs200239788 TRIM56 Nonsynonymous SNV A557T 0.003 0 0 0 4 0 0 0 0 0 0 0 7.541 292030 chr2 54851970 54851970 C T rs763764601 SPTBN1 Synonymous SNV H391H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 292031 chr19 10224964 10224964 C T rs774978141 P2RY11, PPAN-P2RY11 Synonymous SNV Y225Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.55 292032 chr19 11527320 11527320 C T rs765442949 RGL3 Synonymous SNV A131A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 292033 chr19 10283839 10283839 G A rs758190156 DNMT1 Nonsynonymous SNV P216L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.37 292034 chr2 59241520 59241520 C G LINC01122 0 0 0.003 0 0 0 0 1 0 0 0 0 3.767 292035 chr7 111161439 111161439 G A rs202048991 IMMP2L Nonsynonymous SNV A22V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 292036 chr17 80403749 80403749 G A CYBC1 Nonsynonymous SNV H83Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 292037 chr17 80442699 80442699 T G NARF Nonsynonymous SNV L234V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 292038 chr7 117176607 117176607 A G CFTR Nonsynonymous SNV Q250R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.03 292039 chr7 129664109 129664109 T G rs775575477 ZC3HC1 Synonymous SNV S338S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.908 292040 chr7 131241030 131241041 GGCGACGGCGAC - rs547816245 PODXL P28_S31del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 292041 chr2 75101451 75101451 C T rs773460684 HK2 Synonymous SNV G250G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 292042 chr19 17119328 17119328 C T rs751868899 CPAMD8 Synonymous SNV K182K 0.003 0 0 0 3 0 0 0 0 0 0 0 9.407 292043 chr7 137150746 137150746 A G rs768894127 DGKI Synonymous SNV D840D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.981 292044 chr2 8943169 8943169 A - KIDINS220 Stop gain L232* 0 0 0.003 0 0 0 0 1 0 0 0 0 292045 chr7 141720790 141720790 - A MGAM Frameshift insertion N157Kfs*13 0 0 0 1 0 0 0.003 0 0 0 0 0 292046 chr7 100684523 100684523 C T rs777386874 MUC17 Nonsynonymous SNV P3276S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 292047 chr7 100684524 100684524 C A rs746240950 MUC17 Nonsynonymous SNV P3276H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 292048 chr7 131831447 131831447 C T rs201664959 PLXNA4 Nonsynonymous SNV R1626Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 292049 chr7 132990802 132990802 A C rs749991089 EXOC4 Nonsynonymous SNV K215Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 292050 chr19 17766795 17766795 C T rs529698632 UNC13A Nonsynonymous SNV E394K 0.003 0 0 0 3 0 0 0 0 0 0 0 14.45 292051 chr7 108119692 108119692 C T rs62001049 PNPLA8 Synonymous SNV T670T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.79 292052 chr7 140218531 140218531 T C rs753236055 DENND2A Synonymous SNV K1002K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 292053 chr7 117023132 117023132 T C ASZ1 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 292054 chr7 141537707 141537707 C A rs770963578 PRSS37 Nonsynonymous SNV G128V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 292055 chr3 113374595 113374595 T C USF3 Synonymous SNV S1978S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 292056 chr7 143175147 143175147 T C TAS2R41 Nonsynonymous SNV V61A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 292057 chr3 119367307 119367307 A G POPDC2 Nonsynonymous SNV V270A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 292058 chr19 22154510 22154510 C A rs540259312 ZNF208 Nonsynonymous SNV G1109V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 292059 chr7 149511564 149511564 C T rs200490229 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 8.799 292060 chr19 22154522 22154522 C T rs760757323 ZNF208 Nonsynonymous SNV R1105K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.546 292061 chr19 23837065 23837065 A C ZNF675 Nonsynonymous SNV C224G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 292062 chr3 121822541 121822541 A G rs35276006 CD86 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 1.13 292063 chr7 150557674 150557674 G A rs561950163 AOC1 Nonsynonymous SNV V648M 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 292064 chr7 150768248 150768248 G A rs146989617 SLC4A2 Synonymous SNV P604P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.932 292065 chr19 10431883 10431883 C T rs372644927 RAVER1 Synonymous SNV L438L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 292066 chr3 128853004 128853004 C T ISY1, ISY1-RAB43 Synonymous SNV E192E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 292067 chr7 143095849 143095849 G A rs140236236 EPHA1 Nonsynonymous SNV P394L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 292068 chr19 36243111 36243111 T G rs201196330 LIN37 Nonsynonymous SNV D9E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 292069 chr19 36293885 36293885 C T rs149481373 PRODH2 Nonsynonymous SNV R442H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 292070 chr19 37382613 37382613 G T ZNF829 Synonymous SNV A360A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.975 292071 chr8 10583857 10583857 G A rs773237790 SOX7 Synonymous SNV G186G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.743 292072 chr7 150555017 150555017 G A rs374941578 AOC1 Nonsynonymous SNV A487T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 292073 chr7 150884050 150884050 A - ASB10 A57Pfs*49 0.001 0 0 0 1 0 0 0 0 0 0 0 292074 chr19 10943791 10943791 G A rs139968960 TMED1 Synonymous SNV G188G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.1 292075 chr8 20022472 20022472 G A rs781589769 SLC18A1 Nonsynonymous SNV S308F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 292076 chr19 38910619 38910619 T C rs762326895 RASGRP4 Nonsynonymous SNV M182V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 292077 chr3 156396245 156396245 T C rs370485855 TIPARP Synonymous SNV Y253Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 292078 chr8 22460761 22460761 C G rs77880535 C8orf58 Nonsynonymous SNV T347S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 292079 chr8 6366574 6366574 A G rs57118748 ANGPT2 Synonymous SNV L351L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.634 292080 chr8 22548136 22548136 G A rs34545192 EGR3 Synonymous SNV C300C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.121 292081 chr8 22960392 22960392 T C rs73546638 LOC254896 0.001 0 0 0 1 0 0 0 0 0 0 0 1.901 292082 chr3 172473297 172473297 G A rs75095301 ECT2 Nonsynonymous SNV V79I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 292083 chr3 172491708 172491708 T C rs61747132 ECT2 Synonymous SNV L422L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.227 292084 chr8 23540354 23540354 C T rs57111114 NKX3-1 Nonsynonymous SNV A17T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 292085 chr8 11400853 11400853 C A BLK Synonymous SNV P40P 0.001 0 0 0 1 0 0 0 0 0 0 0 13 292086 chr8 11666173 11666173 C T FDFT1 Synonymous SNV D49D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.285 292087 chr8 12878755 12878755 C T rs61736893 TRMT9B Synonymous SNV P63P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 292088 chr19 42857724 42857724 C T rs762398666 MEGF8 Nonsynonymous SNV R1153C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 292089 chr19 42410623 42410623 C G rs45580632 ARHGEF1 Nonsynonymous SNV Q803E 0.003 0 0 0 3 0 0 0 0 0 0 0 16.62 292090 chr8 13357399 13357399 A G rs774305707 DLC1 Nonsynonymous SNV L61P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 292091 chr8 27634331 27634331 G A rs1052492 ESCO2 Nonsynonymous SNV R169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.332 292092 chr8 27622762 27622762 G A rs75655420 CCDC25 Nonsynonymous SNV S12L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 292093 chr8 17613151 17613151 C T rs370181807 MTUS1 Nonsynonymous SNV V56I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 292094 chr3 185245361 185245361 G C rs138900382 LIPH Nonsynonymous SNV A180G 0 0 0.007 1 0 0 0.003 2 0 0 0 0 31 292095 chr8 48650165 48650165 G A rs578188520 CEBPD Nonsynonymous SNV A173V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.59 292096 chr8 30704441 30704441 T C rs762942355 TEX15 Nonsynonymous SNV H1081R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.425 292097 chr8 37732359 37732359 C T RAB11FIP1 Synonymous SNV R432R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 292098 chr8 21860814 21860814 T C rs778063067 XPO7 Synonymous SNV L988L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.554 292099 chr8 41834750 41834750 T G rs200237835 KAT6A Nonsynonymous SNV E380A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.499 292100 chr8 41834751 41834751 C A rs201370796 KAT6A Stop gain E380X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 292101 chr19 17312993 17312993 G A rs200523722 MYO9B Nonsynonymous SNV V1573I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292102 chr8 22974442 22974442 G A TNFRSF10C Synonymous SNV E226E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.15 292103 chr19 17566465 17566465 C - rs748149169 NXNL1 L211Cfs*53 0.001 0 0 0 1 0 0 0 0 0 0 0 292104 chr8 65528576 65528576 A G rs371522442 CYP7B1 Synonymous SNV S174S 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 292105 chr8 27145199 27145199 C T rs753572900 TRIM35 Synonymous SNV L450L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 292106 chr8 27382974 27382974 T C rs144419553 EPHX2 Nonsynonymous SNV L319P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 292107 chr8 101625285 101625285 C T rs150398818 SNX31 Nonsynonymous SNV R55Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.19 292108 chr8 30889528 30889528 G A rs11574150 PURG Synonymous SNV D257D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.234 292109 chr19 4652289 4652289 C T rs1007125411 TNFAIP8L1 Synonymous SNV T136T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 292110 chr8 38852948 38852948 G C TM2D2 Nonsynonymous SNV I25M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.88 292111 chr8 49986878 49986878 T C rs370825990 PPDPFL Synonymous SNV D73D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 292112 chr19 47844750 47844750 C T rs771555144 C5AR2 Nonsynonymous SNV R232W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 292113 chr8 61178602 61178602 G A rs149391728 CA8 Nonsynonymous SNV S100L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 292114 chr8 62212503 62212503 C G rs146100118 CLVS1 Synonymous SNV R39R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 292115 chr8 68151114 68151114 T C rs147621830 ARFGEF1 Synonymous SNV A998A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.182 292116 chr8 105080801 105080801 C T rs550849893 RIMS2 Synonymous SNV A935A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 292117 chr8 72942141 72942141 T C rs368632196 TRPA1 Nonsynonymous SNV M978V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 292118 chr3 4490950 4490950 T C rs146050361 SUMF1 Synonymous SNV A173A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.8 292119 chr8 82715425 82715425 T A SNX16 Nonsynonymous SNV L211F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 292120 chr8 87645052 87645052 A T rs760285737 CNGB3 Synonymous SNV T416T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.225 292121 chr8 121444364 121444364 C A rs376034901 MRPL13 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 292122 chr8 124033697 124033697 T C DERL1 Nonsynonymous SNV I66V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 292123 chr3 46755885 46755885 G A rs142097717 PRSS50 Nonsynonymous SNV R193W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.7 292124 chr3 47378058 47378058 C T rs139767015 KLHL18 Nonsynonymous SNV P311L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 292125 chr19 50397554 50397554 C G rs778722296 IL4I1 Nonsynonymous SNV E180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 292126 chr19 3612320 3612320 T C rs575652016 CACTIN Synonymous SNV P626P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 292127 chr3 47957480 47957480 C T rs78150694 MAP4 Nonsynonymous SNV V613M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 292128 chr19 50510931 50510931 A G VRK3 Nonsynonymous SNV S98P 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 292129 chr8 98289641 98289641 A G rs140049401 TSPYL5 Synonymous SNV P144P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.983 292130 chr3 48454018 48454018 C T rs34555887 PLXNB1 Synonymous SNV T1622T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.04 292131 chr8 98817631 98817631 G A rs115788337 LAPTM4B Synonymous SNV P50P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.798 292132 chr3 48459445 48459445 G A rs61729216 PLXNB1 Synonymous SNV D1083D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.01 292133 chr3 48465640 48465640 G A rs138973378 PLXNB1 Synonymous SNV L127L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.075 292134 chr3 48465871 48465871 C T rs779494589 PLXNB1 Synonymous SNV G50G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 292135 chr3 48474359 48474359 G A rs148230990 CCDC51 Nonsynonymous SNV A232V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 292136 chr3 48697410 48697410 G A rs73830470 CELSR3 Synonymous SNV D886D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.661 292137 chr3 48697488 48697488 A C rs142475235 CELSR3 Nonsynonymous SNV S860R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.31 292138 chr3 48717117 48717117 G A rs34397126 NCKIPSD Synonymous SNV L460L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.43 292139 chr8 104709424 104709424 A G rs145634471 RIMS2 Nonsynonymous SNV H96R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 292140 chr3 49756511 49756511 C T rs35926560 AMIGO3 Nonsynonymous SNV D130N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.592 292141 chr8 109797033 109797033 C G TMEM74 Nonsynonymous SNV V99L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 292142 chr8 120942174 120942174 G A DEPTOR Nonsynonymous SNV E141K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 292143 chr8 124382159 124382170 TCATCATCATCA - ATAD2 D274_D277del 0.001 0 0 0 1 0 0 0 0 0 0 0 292144 chr8 124664970 124664970 C A rs770558725 KLHL38 Nonsynonymous SNV S66I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 292145 chr8 124789556 124789556 G C FAM91A1 Nonsynonymous SNV A121P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 292146 chr3 54928738 54928738 C T rs562708727 CACNA2D3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.719 292147 chr8 144789717 144789717 - CCAGCTGCT rs782726864 CCDC166 L155_A156insEQL 0.001 0 0 0 1 0 0 0 0 0 0 0 292148 chr19 38956764 38956764 G A rs146651758 RYR1 Synonymous SNV P968P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.24 292149 chr3 58619992 58619992 G C rs9835236 FAM3D-AS1 0 0 0.003 2 0 0 0.005 1 0 0 0 0 4.142 292150 chr19 53383856 53383856 A T ZNF320 Nonsynonymous SNV I508N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.56 292151 chr8 142178239 142178239 C T rs373739768 DENND3 Synonymous SNV P630P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.034 292152 chr19 53409809 53409809 G A rs762218003 ZNF888 Nonsynonymous SNV T589I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 292153 chr8 143381888 143381888 C T rs767619996 TSNARE1 Nonsynonymous SNV E198K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292154 chr8 145139748 145139748 C T rs73379191 GPAA1 Synonymous SNV V378V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.21 292155 chr8 145541251 145541251 C A rs782751829 DGAT1 Nonsynonymous SNV D313Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 292156 chr19 54577266 54577266 G A rs138729841 TARM1 Synonymous SNV A188A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.255 292157 chr19 541514 541514 G A rs568742634 CDC34 Nonsynonymous SNV G225R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 292158 chr9 390482 390482 G A rs935222298 DOCK8 Synonymous SNV E862E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 292159 chr19 42410098 42410098 C G rs144745694 ARHGEF1 Synonymous SNV T771T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.823 292160 chr8 144994909 144994909 G A rs368619368 PLEC Nonsynonymous SNV A3013V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 292161 chr4 122687283 122687283 G A rs148730634 PP12613 0 0 0.003 0 0 0 0 1 0 0 0 0 2.229 292162 chr8 145698468 145698468 C T rs754014436 KIFC2 Nonsynonymous SNV R718W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 292163 chr8 145730439 145730439 T C rs375120964 GPT Synonymous SNV I140I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.262 292164 chr19 45164570 45164570 G A rs746864435 PVR Nonsynonymous SNV A335T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 292165 chr19 4523709 4523709 G A rs141998895 PLIN5 Nonsynonymous SNV A408V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 292166 chr9 74485007 74485007 T C rs146464895 ABHD17B Synonymous SNV A213A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.78 292167 chr9 37541234 37541234 G A rs200218427 FBXO10 Nonsynonymous SNV R178C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 292168 chr19 5776263 5776263 A - CATSPERD Q678Rfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 292169 chr19 58991690 58991690 C T rs781368114 ZNF446 Nonsynonymous SNV P317L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.4 292170 chr9 35102160 35102160 C T rs763483882 STOML2 Nonsynonymous SNV R26Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 292171 chr9 35799694 35799694 G A rs144940095 NPR2 Nonsynonymous SNV R318Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 292172 chr4 170429440 170429440 T G NEK1 Nonsynonymous SNV N501H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 292173 chr9 37495227 37495227 C G POLR1E Nonsynonymous SNV C203W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 292174 chr9 90322004 90322004 G A rs761039661 DAPK1 Nonsynonymous SNV V1340M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 292175 chr9 95738639 95738639 C T rs369652829 FGD3 Nonsynonymous SNV A34V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.483 292176 chr9 37801271 37801271 G C rs202086101 DCAF10 Synonymous SNV L136L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.485 292177 chr19 4902815 4902815 T C rs748076276 ARRDC5 Nonsynonymous SNV E8G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 292178 chr9 96021375 96021375 C G rs146411184 WNK2 Nonsynonymous SNV P849A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 292179 chr19 49464836 49464836 C T rs983493121 BAX Nonsynonymous SNV H191Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 292180 chr9 90497847 90497847 G A rs142469791 SPATA31E1 Nonsynonymous SNV G14D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.26 292181 chr19 50435775 50435775 C T ATF5 Nonsynonymous SNV S92F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 292182 chr9 112898873 112898873 A G rs755302002 PALM2AKAP2 Nonsynonymous SNV N208S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 292183 chr9 116930650 116930650 T C rs151023386 COL27A1 Nonsynonymous SNV L272S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.9 292184 chr9 103340481 103340481 C T rs375508129 CAVIN4 Nonsynonymous SNV S19L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 292185 chr9 119158835 119158835 T C PAPPA Synonymous SNV C1608C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.033 292186 chr9 119188233 119188233 G T ASTN2 Nonsynonymous SNV A358E 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 292187 chr9 123676565 123676565 A G rs768763188 TRAF1 Nonsynonymous SNV V81A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.357 292188 chr9 117359880 117359880 G C ATP6V1G1 Nonsynonymous SNV E72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 292189 chr9 125274015 125274015 C T rs150890302 OR1J2 Nonsynonymous SNV S312F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 292190 chr4 5527086 5527086 C G LINC01587 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 292191 chr9 124538563 124538563 G A rs147553080 DAB2IP Synonymous SNV T945T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 292192 chr1 107961249 107961249 G A rs369929082 NTNG1 Nonsynonymous SNV V379I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 292193 chr4 68504668 68504668 C T rs779852333 UBA6 Nonsynonymous SNV V577I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 292194 chr9 129641726 129641726 C T rs375316162 ZBTB34 Synonymous SNV P12P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 292195 chr4 73012886 73012886 G A rs548668915 NPFFR2 Nonsynonymous SNV R309Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 292196 chr9 124931984 124931984 G A rs113084619 MORN5 Nonsynonymous SNV G86S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.199 292197 chr1 110259997 110259997 A C GSTM5 Nonsynonymous SNV Q202H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.59 292198 chr9 125512934 125512934 G A rs754321795 OR1L6 Nonsynonymous SNV V270I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 292199 chr9 125512936 125512936 T G rs757739161 OR1L6 Synonymous SNV V270V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.052 292200 chr9 125512938 125512938 G A rs779249937 OR1L6 Nonsynonymous SNV R271K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.067 292201 chr9 125512941 125512941 A G rs758760988 OR1L6 Nonsynonymous SNV D272G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 292202 chr4 77244557 77244557 G A rs201335763 CCDC158 Stop gain Q1055X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 292203 chr19 55673013 55673013 C T DNAAF3 Nonsynonymous SNV G289R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 292204 chr1 113051933 113051933 C T rs201895225 WNT2B Nonsynonymous SNV R17C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292205 chr4 83372369 83372369 G A rs369647289 ENOPH1 Synonymous SNV A32A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.688 292206 chr1 114524237 114524237 C T rs144472671 OLFML3 Nonsynonymous SNV T295I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.168 292207 chr9 136234223 136234223 G A rs782367838 SURF4 Synonymous SNV S34S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.89 292208 chr9 136596493 136596493 G A rs142288906 SARDH Synonymous SNV D208D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.805 292209 chr9 133759490 133759492 AAG - rs201725154 ABL1 K609del 0.001 0 0 0 1 0 0 0 0 0 0 0 292210 chr1 12061890 12061890 T G rs927418350 MFN2 Nonsynonymous SNV F345L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 292211 chr9 140127725 140127725 C T rs34796681 SLC34A3 Synonymous SNV L209L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.491 292212 chr1 1262904 1262904 G A rs374469448 CPTP Nonsynonymous SNV A136T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 292213 chr9 135218179 135218179 T C rs375232867 SETX Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.402 292214 chr9 140127379 140127379 C T rs200186549 SLC34A3 Synonymous SNV L150L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 5.168 292215 chr5 123983549 123983549 T A ZNF608 Nonsynonymous SNV K843M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 292216 chr1 145560148 145560148 G A rs781812215 ANKRD35 Nonsynonymous SNV A122T 0.002 0 0 0 2 0 0 0 0 0 0 0 23 292217 chr9 136230378 136230380 CTT - rs782142213 SURF4 K150del 0.001 0 0 0 1 0 0 0 0 0 0 0 292218 chr1 150484838 150484838 C A rs202156901 ECM1 Nonsynonymous SNV T240N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 292219 chr1 150525721 150525721 G A rs771709345 ADAMTSL4 Synonymous SNV A142A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 292220 chr1 150811958 150811958 A G rs116774603 ARNT Nonsynonymous SNV S134P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 292221 chr9 140128693 140128693 G T rs121918234 SLC34A3 Nonsynonymous SNV R353L 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23.4 292222 chr9 140128962 140128962 G A rs141417134 SLC34A3 Synonymous SNV T396T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 292223 chr1 151339340 151339340 C T rs76846932 SELENBP1 Synonymous SNV K112K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 292224 chr9 139399828 139399828 C T NOTCH1 Nonsynonymous SNV S1507N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.816 292225 chr9 139635812 139635812 A C rs202133605 LCN10 Nonsynonymous SNV L87V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.385 292226 chr5 138240045 138240045 A G rs752913534 CTNNA1 Nonsynonymous SNV N65S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 292227 chr10 12143081 12143081 A G DHTKD1 Synonymous SNV G599G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 292228 chr1 154569689 154569689 G A ADAR Synonymous SNV P368P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 292229 chr5 148754124 148754124 C T rs757247536 IL17B Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 292230 chr10 25313667 25313667 T A rs150653385 THNSL1 Stop gain C505X 0.003 0 0 0 3 0 0 0 0 0 0 0 36 292231 chr10 27406631 27406631 A G rs143656124 YME1L1 Synonymous SNV I498I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.41 292232 chr1 156779118 156779118 G A rs41313896 SH2D2A Synonymous SNV G265G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 292233 chr1 156812237 156812237 G A rs201432218 INSRR Nonsynonymous SNV R1064C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 292234 chr10 13900889 13900889 T C FRMD4A Synonymous SNV Q39Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.936 292235 chr10 15256441 15256441 G A rs139806876 FAM171A1 Synonymous SNV H382H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 292236 chr10 27826946 27826946 G A rs756623116 RAB18 Nonsynonymous SNV G132E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 292237 chr1 159283770 159283770 A G rs776766602 OR10J3 Nonsynonymous SNV L227P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 292238 chr10 35500192 35500192 C T rs768611725 CREM Nonsynonymous SNV R52W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 292239 chr1 161021380 161021380 T C rs199763567 ARHGAP30 Nonsynonymous SNV T205A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.925 292240 chr10 28908514 28908514 T C WAC Synonymous SNV N538N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.381 292241 chr10 31816034 31816036 GAA - rs760980235 ZEB1 E1002del 0.001 0 0 0 1 0 0 0 0 0 0 0 292242 chr19 990888 990888 G A rs771225849 WDR18 Nonsynonymous SNV V212I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 292243 chr1 103352502 103352502 C T rs3753842 COL11A1 Synonymous SNV S1457S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.17 292244 chr1 10699787 10699787 A T CASZ1 Nonsynonymous SNV S1498T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 292245 chr1 169439253 169439253 G A rs151131241 SLC19A2 Nonsynonymous SNV R126C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292246 chr10 46122384 46122384 A T rs201953415 ZFAND4 Nonsynonymous SNV I296N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.418 292247 chr5 43067147 43067147 G C rs183424153 LOC100506639 0 0 0.014 0 0 0 0 4 0 0 0 0 1.891 292248 chr10 71690289 71690289 C G rs747554923 COL13A1 Nonsynonymous SNV T487R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.411 292249 chr10 71874803 71874803 G A rs139166830 AIFM2 Synonymous SNV Y281Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.222 292250 chr1 117712758 117712758 A G rs76778384 VTCN1 Nonsynonymous SNV I23T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 292251 chr1 118166195 118166195 C T rs10923359 TENT5C Synonymous SNV N235N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.953 292252 chr1 119927484 119927484 C T rs75834889 HAO2 Synonymous SNV G123G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.82 292253 chr1 183775513 183775513 C T RGL1 Nonsynonymous SNV S11L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 292254 chr1 1246069 1246069 G A rs199905701 PUSL1 0.003 0 0 0 4 0 0 0 0 0 0 0 21.7 292255 chr10 84744992 84744992 G A NRG3 Synonymous SNV V574V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.885 292256 chr10 75391782 75391782 T C rs759629947 MYOZ1 Nonsynonymous SNV N269S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 292257 chr10 88441445 88441445 C T LDB3 Nonsynonymous SNV P192S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.858 292258 chr10 75557008 75557008 C T rs562610977 ZSWIM8 Nonsynonymous SNV R1133W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292259 chr10 90074275 90074275 G A rs766460709 RNLS Nonsynonymous SNV P275L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292260 chr1 19992514 19992514 G C rs199967878 HTR6 Nonsynonymous SNV G90R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292261 chr10 96093938 96093938 T C rs150626689 NOC3L Nonsynonymous SNV H800R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 292262 chr1 151546871 151546871 G A rs753482283 TUFT1 Synonymous SNV E215E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 292263 chr10 97096832 97096832 G C rs749476706 SORBS1 Nonsynonymous SNV P1029A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 292264 chr10 98408509 98408509 C T rs35035564 PIK3AP1 Synonymous SNV A364A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.6 292265 chr10 98924593 98924593 G T rs149092674 SLIT1 Synonymous SNV L84L 0.001 0 0 0 1 0 0 0 0 0 0 0 41 292266 chr5 90025549 90025549 G T ADGRV1 Nonsynonymous SNV R3506I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 292267 chr10 85984602 85984602 G A LRIT2 Nonsynonymous SNV P127S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 292268 chr10 100013382 100013382 A G rs141995277 LOXL4 Nonsynonymous SNV I588T 0.003 0 0 0 3 0 0 0 0 0 0 0 27.9 292269 chr10 105178262 105178262 C T PDCD11 Synonymous SNV N659N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.634 292270 chr1 201750233 201750233 G A rs61753858 NAV1 Nonsynonymous SNV D96N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 292271 chr10 96829097 96829097 T A rs202131138 CYP2C8 Nonsynonymous SNV R21S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.282 292272 chr1 153926074 153926074 G A CRTC2 Nonsynonymous SNV A148V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.08 292273 chr10 98405235 98405235 T C rs138047705 PIK3AP1 Nonsynonymous SNV D457G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.2 292274 chr1 155159958 155159958 C T rs764097944 MUC1 Nonsynonymous SNV A110T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 292275 chr10 95147576 95147576 T C rs747808955 MYOF Nonsynonymous SNV N546S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.995 292276 chr1 1560954 1560954 G A rs750408365 MIB2 Nonsynonymous SNV R348H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 292277 chr1 156255087 156255087 C A TMEM79 Nonsynonymous SNV Q24K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 292278 chr10 103906979 103906979 G A rs369745352 PPRC1 Synonymous SNV R1290R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 292279 chr10 104621922 104621922 A C BORCS7 Nonsynonymous SNV E85A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 292280 chr1 15689182 15689182 A T rs201087260 FHAD1 Nonsynonymous SNV T981S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 292281 chr10 106014955 106014955 G C GSTO1 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 292282 chr1 211451474 211451474 A G rs149116704 RCOR3 Nonsynonymous SNV I120V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 292283 chr10 102249889 102249889 G A rs75790220 SEC31B Synonymous SNV P947P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.675 292284 chr1 228559083 228559083 C T rs1050279400 OBSCN Synonymous SNV S6868S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.82 292285 chr10 115527115 115527115 T C rs779760191 PLEKHS1 Nonsynonymous SNV V73A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 292286 chr1 159857656 159857656 T C CFAP45 Nonsynonymous SNV E188G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 292287 chr1 229771283 229771283 A C URB2 Nonsynonymous SNV Y308S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 292288 chr1 216061845 216061845 C T rs531822235 USH2A Nonsynonymous SNV E2716K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.54 292289 chr1 160719708 160719708 G A rs147491779 SLAMF7 Synonymous SNV E51E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.86 292290 chr6 153294223 153294223 C T rs140496847 FBXO5 Synonymous SNV K243K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 292291 chr1 169345827 169345827 T G BLZF1 Synonymous SNV T26T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.014 292292 chr1 172525158 172525158 G A rs114570278 SUCO Synonymous SNV K109K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 292293 chr1 173020089 173020089 G A rs766284961 TNFSF18 Nonsynonymous SNV P5L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 292294 chr1 229772466 229772466 C T rs560736601 URB2 Synonymous SNV C702C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.902 292295 chr1 231051998 231051998 G C rs1029189554 TTC13 Synonymous SNV P624P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 292296 chr1 207307808 207307808 C A rs760726989 C4BPA Nonsynonymous SNV R382S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.721 292297 chr1 242161844 242161844 T A MAP1LC3C Nonsynonymous SNV T65S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 292298 chr1 247030981 247030981 C G AHCTF1 Nonsynonymous SNV S1074T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.54 292299 chr6 33657826 33657826 G A rs59525809 ITPR3 Nonsynonymous SNV V2295M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 32 292300 chr6 34512088 34512088 C T rs111271155 SPDEF Nonsynonymous SNV A49T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 14.16 292301 chr6 35211509 35211511 CCA - SCUBE3 T683del 0 0 0.003 0 0 0 0 1 0 0 0 0 292302 chr6 38690632 38690632 C T rs754105184 DNAH8 Nonsynonymous SNV A16V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.93 292303 chr6 43109440 43109440 C T rs143042627 PTK7 Synonymous SNV N421N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 292304 chr6 44255550 44255550 C T rs770396213 TCTE1 Nonsynonymous SNV V5I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 292305 chr6 44270175 44270175 C T rs111325758 AARS2 Nonsynonymous SNV V814M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.955 292306 chr6 44270189 44270189 A T rs35967387 AARS2 Nonsynonymous SNV L809Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.305 292307 chr6 44274121 44274121 T C rs113433939 AARS2 Nonsynonymous SNV N399S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 292308 chr1 203311480 203311480 G A rs141336017 FMOD Synonymous SNV I374I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 292309 chr6 44279824 44279824 C T rs75506489 AARS2 Synonymous SNV G140G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.8 292310 chr11 4615657 4615657 T C rs374097102 OR52I1 Nonsynonymous SNV I130T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 292311 chr1 20811759 20811759 G A rs201611930 CAMK2N1 Synonymous SNV A38A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 292312 chr1 38047106 38047106 C G GNL2 Nonsynonymous SNV G317A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 292313 chr11 5686894 5686894 C T rs373030263 TRIM5 Nonsynonymous SNV R296H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.349 292314 chr1 22186164 22186164 C T rs948765391 HSPG2 Nonsynonymous SNV E1731K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 292315 chr11 6579912 6579912 C G rs912270252 DNHD1 Nonsynonymous SNV P3067R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.508 292316 chr11 7674333 7674333 A G rs146511653 PPFIBP2 Nonsynonymous SNV M696V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 292317 chr1 45111156 45111156 G A rs775481217 RNF220 Nonsynonymous SNV E268K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 292318 chr11 6661487 6661487 C T rs756815370 DCHS1 Nonsynonymous SNV R453Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 292319 chr1 47042283 47042283 C T rs143453771 MKNK1 Nonsynonymous SNV R81Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 28.8 292320 chr1 228550352 228550352 C T rs1009881649 OBSCN Nonsynonymous SNV P6246L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 292321 chr11 9091014 9091014 G A rs148676325 SCUBE2 Synonymous SNV H182H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 11.22 292322 chr11 9096086 9096086 G A rs2003885 SCUBE2 Synonymous SNV C153C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 9.565 292323 chr1 53362220 53362220 T C rs780736756 ECHDC2 Nonsynonymous SNV K236R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 292324 chr11 10508808 10508808 A G rs144613367 AMPD3 Nonsynonymous SNV N120S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 292325 chr11 12315666 12315666 C G MICALCL Nonsynonymous SNV L230V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 292326 chr11 6589945 6589945 C T DNHD1 Synonymous SNV L4238L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.753 292327 chr11 17531359 17531359 C T USH1C Synonymous SNV P519P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.64 292328 chr7 102760201 102760201 C T NAPEPLD Nonsynonymous SNV C255Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 292329 chr11 18253178 18253178 G C rs759622013 SAA2-SAA4, SAA4 Nonsynonymous SNV D88E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.975 292330 chr11 34905003 34905003 C T rs746843302 APIP Synonymous SNV E170E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.26 292331 chr11 18637063 18637063 G A rs138793184 SPTY2D1 Nonsynonymous SNV S253F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.6 292332 chr1 63789766 63789766 A G rs757659548 FOXD3 Nonsynonymous SNV N346S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 292333 chr1 2435451 2435451 C T rs200322093 PLCH2 Nonsynonymous SNV P1017L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.157 292334 chr11 32697121 32697121 C T rs745426823 CCDC73 Nonsynonymous SNV S212N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.85 292335 chr1 2452662 2452662 G A PANK4 Synonymous SNV Y100Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.751 292336 chr1 65891031 65891031 T G rs150026062 LEPROT Nonsynonymous SNV L21R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 292337 chr1 6705129 6705129 C T rs374605581 DNAJC11 Nonsynonymous SNV D318N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 292338 chr11 14891141 14891141 G C rs61736639 PDE3B Nonsynonymous SNV E1092Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.95 292339 chr1 71512720 71512720 C A rs200372986 PTGER3 Nonsynonymous SNV V181L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 292340 chr11 34668100 34668100 A G rs906633295 EHF Nonsynonymous SNV N71S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.74 292341 chr11 34165013 34165013 T C rs143368924 NAT10 Synonymous SNV D897D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.552 292342 chr1 76349427 76349427 G T rs201697763 MSH4 Nonsynonymous SNV L676F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.33 292343 chr11 18303755 18303755 T C rs911262669 HPS5 Nonsynonymous SNV E910G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 292344 chr11 36297718 36297718 A G rs371919934 COMMD9 Nonsynonymous SNV M100T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 292345 chr11 48347314 48347314 G T OR4C3 Nonsynonymous SNV L247F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 292346 chr11 47270313 47270313 G A rs41275182 ACP2 Nonsynonymous SNV R10W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23 292347 chr1 89587619 89587619 T C rs188397806 GBP2 Nonsynonymous SNV M11V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 292348 chr1 26371697 26371697 C - SLC30A2 G21Dfs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 292349 chr11 33047547 33047547 A T DEPDC7 Nonsynonymous SNV N139I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.91 292350 chr20 33578089 33578089 C - rs766120600 MYH7B Q694Rfs*14 0.002 0 0 0 2 0 0 0 0 0 0 0 292351 chr1 906516 906516 G C rs369329130 PLEKHN1 Synonymous SNV T224T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.098 292352 chr1 93651922 93651922 T C rs74596359 CCDC18 Synonymous SNV P108P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.219 292353 chr7 154264001 154264001 C T rs749238780 DPP6 Synonymous SNV P145P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 292354 chr1 94342336 94342336 T G rs370751620 DNTTIP2 Synonymous SNV A385A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.758 292355 chr1 34285393 34285393 C A CSMD2 Synonymous SNV L415L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 292356 chr1 3428675 3428675 C T rs115175505 MEGF6 Nonsynonymous SNV A291T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 292357 chr20 1281263 1281263 G A rs149472310 SNPH Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.869 292358 chr11 55322450 55322450 G A rs143337123 OR4C15 Nonsynonymous SNV G169D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 292359 chr20 47887250 47887250 T C rs147045723 ZNFX1 Nonsynonymous SNV I367V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 292360 chr7 2623881 2623881 C G rs7786703 IQCE Synonymous SNV L197L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.12 292361 chr20 23016706 23016706 G A rs200321103 SSTR4 Nonsynonymous SNV V196M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 292362 chr11 55418966 55418966 T G rs375764774 OR4S2 Nonsynonymous SNV V196G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 292363 chr7 27211527 27211527 A G HOXA10 Synonymous SNV N408N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 292364 chr11 58170151 58170151 A G OR5B3 Synonymous SNV I244I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.206 292365 chr20 2686313 2686313 C T rs539502560 EBF4 Synonymous SNV Y72Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 292366 chr7 43982468 43982468 C T rs757788633 POLR2J4 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 292367 chr20 3356922 3356922 C T rs575784681 C20orf194 Nonsynonymous SNV S104N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292368 chr7 45018542 45018542 G A rs76849948 MYO1G Nonsynonymous SNV P7S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 292369 chr11 63487030 63487030 C T rs75409661 RTN3 Synonymous SNV T240T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.325 292370 chr20 37580571 37580571 C G rs759101054 FAM83D Nonsynonymous SNV A389G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.48 292371 chr7 6470187 6470187 C G DAGLB Nonsynonymous SNV A285P 0 0 0.003 0 0 0 0 1 0 0 0 0 31 292372 chr1 63284786 63284786 A C rs753813306 ATG4C Synonymous SNV R169R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.246 292373 chr11 66475076 66475076 C T rs376773049 SPTBN2 Nonsynonymous SNV A522T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 292374 chr1 6535144 6535144 T C rs981552118 PLEKHG5 Nonsynonymous SNV T89A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.944 292375 chr1 66834476 66834476 C T rs370349934 PDE4B Nonsynonymous SNV R385C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 292376 chr11 65172501 65172501 G A rs777008508 FRMD8 Nonsynonymous SNV R357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 292377 chr1 78248987 78248987 C T rs368396280 MIGA1 Nonsynonymous SNV A49V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 292378 chr11 60641207 60641207 G A rs770272406 ZP1 Nonsynonymous SNV A511T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.835 292379 chr11 65294543 65294543 G A rs141670485 SCYL1 Nonsynonymous SNV M268I 0.001 0 0 0 1 0 0 0 0 0 0 0 21 292380 chr8 101014580 101014580 C T rs201197901 RGS22 Nonsynonymous SNV M699I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 292381 chr11 62294274 62294274 C T rs142790754 AHNAK Nonsynonymous SNV V2539I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 292382 chr1 89237519 89237519 G A rs374860858 PKN2 Synonymous SNV T157T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 292383 chr11 67017924 67017924 A G rs769376129 KDM2A Nonsynonymous SNV K369R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 292384 chr11 62416020 62416020 C G INTS5 Nonsynonymous SNV R511P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 292385 chr11 63999921 63999921 C G DNAJC4 Nonsynonymous SNV P67R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 292386 chr8 10682894 10682894 C T rs59878596 MIR1322 0 0 0.007 0 0 0 0 2 0 0 0 0 3.852 292387 chr8 109482116 109482116 G A rs557149789 EMC2 Nonsynonymous SNV R151Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 292388 chr11 63967459 63967459 C T rs146903932 STIP1 Synonymous SNV P404P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 292389 chr11 63987031 63987031 G C rs199508330 FERMT3 Synonymous SNV V310V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.32 292390 chr11 63987989 63987989 G A rs373999037 FERMT3 Nonsynonymous SNV E465K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 30 292391 chr11 63990541 63990541 C T rs200243967 FERMT3 Synonymous SNV D564D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.03 292392 chr11 64004661 64004661 C T rs145316240 VEGFB Nonsynonymous SNV P126L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 292393 chr11 64022222 64022222 G A rs149231506 PLCB3 Synonymous SNV E60E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.87 292394 chr11 64022913 64022913 C T rs143887717 PLCB3 Synonymous SNV P104P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.47 292395 chr11 64032784 64032784 G A rs79573066 PLCB3 Nonsynonymous SNV V882M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 292396 chr11 64039136 64039136 G A rs2286616 BAD Synonymous SNV R109R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 292397 chr11 64566296 64566296 C T MAP4K2 Stop gain W356X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 292398 chr11 64808877 64808877 G A rs565898484 SAC3D1 Nonsynonymous SNV C38Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.166 292399 chr11 73007981 73007981 G T rs752069373 P2RY6 Nonsynonymous SNV G241C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 292400 chr11 64820801 64820801 C T rs544111222 NAALADL1 Nonsynonymous SNV V363M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 292401 chr1 9305158 9305158 G A H6PD Synonymous SNV G66G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.591 292402 chr11 64884059 64884059 G A rs759640396 ZNHIT2 Nonsynonymous SNV P356L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.53 292403 chr11 65826339 65826339 G A rs951174156 SF3B2 Synonymous SNV K335K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 292404 chr11 74413877 74413877 G A rs367920526 CHRDL2 Nonsynonymous SNV S296L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 292405 chr11 65351179 65351179 G A rs375115072 EHBP1L1 Synonymous SNV A1012A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.684 292406 chr8 133186486 133186486 C T rs541549782 KCNQ3 Synonymous SNV A228A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 10.43 292407 chr8 134239697 134239697 T C rs370616029 CCN4 Nonsynonymous SNV M38T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 292408 chr8 143427179 143427179 G A rs143680041 TSNARE1 Nonsynonymous SNV R55C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 292409 chr11 67260941 67260941 G T PITPNM1 Nonsynonymous SNV D1093E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 292410 chr20 17339055 17339055 C T rs775687454 PCSK2 Synonymous SNV N87N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 292411 chr11 72533318 72533318 C G rs779108506 ATG16L2 Nonsynonymous SNV L102V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.8 292412 chr20 21309202 21309202 A G rs1047852897 XRN2 Synonymous SNV P185P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.089 292413 chr11 123847831 123847831 A G rs138781398 OR10S1 Nonsynonymous SNV Y190H 0.001 0 0.01 1 1 0 0.003 3 0 0 0 0 5.252 292414 chr11 93430585 93430585 C T CEP295 Nonsynonymous SNV P836L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 292415 chr22 32012837 32012837 G A SFI1 Nonsynonymous SNV R1081K 0.003 0 0 0 3 0 0 0 0 0 0 0 2.288 292416 chr20 33122485 33122485 C T DYNLRB1 Nonsynonymous SNV L12F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 292417 chr20 3651670 3651670 C T ADAM33 Synonymous SNV R715R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.015 292418 chr22 36538048 36538048 C - APOL3 E137Rfs*17 0.003 0 0 0 4 0 0 0 0 0 0 0 292419 chr21 47361590 47361590 G A rs61736689 PCBP3 Synonymous SNV T336T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.11 292420 chr11 118769303 118769303 C T rs79654456 BCL9L Nonsynonymous SNV V1441M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.1 292421 chr8 27287661 27287661 C A rs145177380 PTK2B Nonsynonymous SNV F201L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 292422 chr11 107375789 107375789 C T rs928794967 ALKBH8 Synonymous SNV E533E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 292423 chr11 119535678 119535680 CCT - rs369523216 NECTIN1 E444del 0.001 0 0 0 1 0 0 0 0 0 0 0 292424 chr11 119535680 119535680 - CCT NECTIN1 E444_G445insE 0.001 0 0 0 1 0 0 0 0 0 0 0 292425 chr11 110462760 110462760 G C rs889839077 ARHGAP20 Nonsynonymous SNV L339V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 292426 chr11 107729422 107729422 G A rs369700296 SLC35F2 Synonymous SNV S24S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.307 292427 chr11 111746748 111746748 G A rs189903941 FDXACB1 Nonsynonymous SNV P258L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.85 292428 chr8 37593478 37593478 C A rs200807510 LOC102723701 0 0 0.007 0 0 0 0 2 0 0 0 0 15.35 292429 chr20 44589341 44589341 C T rs372834668 ZNF335 Nonsynonymous SNV V566M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 292430 chr11 113283291 113283291 G A rs757780702 DRD2 Synonymous SNV L346L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 292431 chr8 39080709 39080709 G A rs777143871 ADAM32 Nonsynonymous SNV G394R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 292432 chr22 21133618 21133618 C T rs17819104 SERPIND1 Synonymous SNV N6N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 292433 chr11 123900332 123900332 G A rs763415946 OR10G8 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 292434 chr20 47626834 47626834 A G rs769315845 ARFGEF2 Nonsynonymous SNV N1217S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 292435 chr20 47645166 47645166 G A rs778607741 ARFGEF2 Nonsynonymous SNV R1675H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 292436 chr20 47990101 47990101 G C KCNB1 Nonsynonymous SNV P666A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 292437 chr11 117302331 117302331 C T rs763938111 DSCAML1 Nonsynonymous SNV D1765N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 292438 chr12 7048018 7048018 T C rs782774902 ATN1 Synonymous SNV P964P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.358 292439 chr22 24919671 24919671 G A rs763790843 UPB1 Nonsynonymous SNV R334Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 292440 chr11 119182271 119182271 C T MCAM Nonsynonymous SNV R459Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 292441 chr11 123886688 123886688 G A rs755355653 OR10G4 Nonsynonymous SNV S136N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 292442 chr11 129979419 129979419 T G rs141677086 APLP2 Synonymous SNV T67T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 292443 chr22 30416725 30416725 C T rs139441560 MTMR3 Nonsynonymous SNV T1026M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 292444 chr12 332311 332311 C T rs148770476 SLC6A13 Synonymous SNV V375V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 292445 chr12 674546 674546 A G NINJ2 Nonsynonymous SNV V88A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 292446 chr8 97398768 97398768 A G LOC102724804 0 0 0.003 0 0 0 0 1 0 0 0 0 7.215 292447 chr11 123900765 123900765 A G rs773251050 OR10G8 Nonsynonymous SNV S146G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 292448 chr12 4708265 4708266 CT - rs765704649 DYRK4 S213Cfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 292449 chr20 61449900 61449900 C T rs766431560 COL9A3 Nonsynonymous SNV P60S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 292450 chr22 36685329 36685329 C T rs202127454 MYH9 Synonymous SNV E1453E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.13 292451 chr11 133796832 133796832 C T rs747309582 IGSF9B Nonsynonymous SNV V596M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292452 chr22 37902211 37902211 G A rs771736814 CARD10 Synonymous SNV G457G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.783 292453 chr9 107560803 107560803 C T rs138422574 ABCA1 Nonsynonymous SNV V1674I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.8 292454 chr20 62197324 62197324 C A rs753625341 HELZ2 Nonsynonymous SNV V382F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.455 292455 chr20 62366707 62366707 C T rs776428194 ZGPAT Synonymous SNV D396D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.287 292456 chr12 7527092 7527092 C T rs149805278 CD163L1 Nonsynonymous SNV G1129S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 292457 chr11 129758521 129758521 T C NFRKB Nonsynonymous SNV N115S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.01 292458 chr11 129795084 129795084 C T PRDM10 Nonsynonymous SNV R438Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 292459 chr12 5020840 5020840 G A KCNA1 Nonsynonymous SNV G99D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 292460 chr22 41546053 41546053 A C rs577396026 EP300 Nonsynonymous SNV T864P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.699 292461 chr12 6436539 6436539 C A PLEKHG6 Nonsynonymous SNV T565N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 292462 chr21 33043759 33043759 C T rs563567552 SCAF4 Nonsynonymous SNV V1118I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 292463 chr21 33719457 33719457 G A rs566480854 URB1 Nonsynonymous SNV R1226C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 292464 chr12 6442571 6442571 T C rs104895288 TNFRSF1A Nonsynonymous SNV N37S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.66 292465 chr22 45127650 45127650 C T PRR5 Synonymous SNV F26F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 292466 chr12 6635725 6635725 G C rs149823221 NCAPD2 Nonsynonymous SNV C893S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 292467 chr12 7045907 7045915 CAGCAGCAG - ATN1 Q500_Q502del 0.001 0 0 0 1 0 0 0 0 0 0 0 292468 chr9 128064657 128064657 T G GAPVD1 Nonsynonymous SNV L194R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 292469 chr12 9986006 9986006 A G rs757670768 KLRF1 Nonsynonymous SNV S98G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292470 chr12 18234381 18234381 A G rs138139261 RERGL Nonsynonymous SNV V120A 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 292471 chr12 21370184 21370184 G A SLCO1B1 Synonymous SNV L543L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 292472 chr12 22059101 22059101 A C ABCC9 Nonsynonymous SNV L526R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 26 292473 chr12 14836182 14836182 T G GUCY2C Synonymous SNV T135T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.812 292474 chr9 133761004 133761004 G A rs149678602 ABL1 Synonymous SNV A1109A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 292475 chr2 101594243 101594243 G A rs41280597 NPAS2 Synonymous SNV T488T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.94 292476 chr12 32902874 32902874 C T rs372406231 YARS2 Nonsynonymous SNV R424Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 292477 chr9 135204348 135204348 G A SETX Synonymous SNV F879F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.124 292478 chr22 37771513 37771513 C T rs368781861 ELFN2 Nonsynonymous SNV R21H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.283 292479 chr22 38122218 38122218 G A rs373220839 TRIOBP Nonsynonymous SNV G1219R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.1 292480 chr12 48380917 48380917 G A rs917659377 COL2A1 Nonsynonymous SNV R368W 0.001 0 0 0 1 0 0 0 0 0 0 0 28 292481 chr22 38877304 38877304 A G rs144678116 KDELR3 Nonsynonymous SNV I147V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 292482 chr9 139333568 139333568 C A rs187724945 INPP5E Nonsynonymous SNV D102Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 292483 chr2 11733023 11733023 G A rs148777088 GREB1 Synonymous SNV A489A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.8 292484 chr9 140325774 140325774 C T rs371771451 NOXA1 Nonsynonymous SNV S206L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.232 292485 chr2 17954003 17954003 G A rs148607792 GEN1 Nonsynonymous SNV R302H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.31 292486 chr2 12858544 12858544 G C TRIB2 Nonsynonymous SNV Q37H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 292487 chr12 51749701 51749701 G A rs555910790 GALNT6 Synonymous SNV I548I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 292488 chr9 21409312 21409312 G T rs757915960 IFNA8 Nonsynonymous SNV R46I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 292489 chr12 50152192 50152192 C T rs144057087 TMBIM6 Nonsynonymous SNV T179M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292490 chr12 52448795 52448795 C T rs150018506 NR4A1 Nonsynonymous SNV T228M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.885 292491 chr22 24108441 24108441 G - CHCHD10 Q102Sfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 292492 chr2 18745238 18745238 G A rs575659223 NT5C1B, NT5C1B-RDH14 Stop gain R493X 0.001 0 0 0 1 0 0 0 0 0 0 0 50 292493 chr2 152490219 152490219 A C rs6709886 NEB Synonymous SNV P3121P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.003 292494 chr12 52761095 52761095 C A rs146855188 KRT85 Nonsynonymous SNV C32F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 292495 chr12 54757454 54757454 T C rs140120680 GPR84 Nonsynonymous SNV N61S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 292496 chr2 158152917 158152917 T C rs79766504 GALNT5 Nonsynonymous SNV V630A 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 292497 chr12 64609489 64609489 A G rs1053810919 C12orf66 Synonymous SNV L164L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 292498 chr2 200800693 200800693 C - TYW5 E218Nfs*20 0.003 0 0 0 3 0 0 0 0 0 0 0 292499 chr12 56474116 56474116 G T ERBB3 Nonsynonymous SNV G11V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 292500 chr2 161052787 161052787 T G rs768539900 ITGB6 Nonsynonymous SNV K54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.996 292501 chr12 53292666 53292666 G A rs7750 KRT8 Synonymous SNV A333A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.642 292502 chr22 30887585 30887585 G A SEC14L4 Synonymous SNV S352S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 292503 chr22 30887586 30887586 C A SEC14L4 Nonsynonymous SNV S352I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 292504 chr9 77282781 77282781 A C RORB Nonsynonymous SNV I370L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.66 292505 chr12 53447292 53447292 G A rs374779355 LOC283335 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 292506 chr12 57910951 57910951 T C DDIT3 Nonsynonymous SNV I74V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 292507 chr12 58015553 58015553 C T rs750536463 SLC26A10 Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 292508 chr12 58202299 58202299 G A AVIL Synonymous SNV S324S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 292509 chr12 56030836 56030836 C T OR10P1 Nonsynonymous SNV A54V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.41 292510 chr12 57139944 57139944 C T rs765136318 PRIM1 Nonsynonymous SNV R155H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292511 chr2 170592064 170592064 T G rs748283756 KLHL23, PHOSPHO2-KLHL23 Synonymous SNV L180L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.79 292512 chr22 37888774 37888774 G C CARD10 Nonsynonymous SNV R838G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 292513 chr12 57884391 57884391 A G rs778753999 MARS1 Nonsynonymous SNV E245G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.711 292514 chr12 57921734 57921734 G C rs150653337 MBD6 Synonymous SNV G780G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.325 292515 chr12 58149650 58149650 C T MARCHF9 Synonymous SNV C113C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 292516 chr12 58177008 58177008 G T TSFM Nonsynonymous SNV G58V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 292517 chr2 179530474 179530474 T C TTN Nonsynonymous SNV M11974V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.665 292518 chr22 42172179 42172179 A T MEI1 Nonsynonymous SNV N873I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 292519 chr12 114392939 114392939 T C RBM19 Synonymous SNV T306T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.691 292520 chrX 148037228 148037228 A G rs16994869 AFF2 Synonymous SNV T192T 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.102 292521 chr2 179598424 179598424 T C TTN Nonsynonymous SNV Q3987R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 292522 chr12 104336437 104336437 C G HSP90B1 Nonsynonymous SNV R503G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 292523 chr12 104476581 104476581 C T rs755874030 HCFC2 Nonsynonymous SNV A322V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 292524 chr12 92382934 92382934 T A rs372358519 LINC01619 0.001 0 0 0 1 0 0 0 0 0 0 0 6.704 292525 chr2 136590758 136590758 C T rs886054869 LCT Nonsynonymous SNV G215R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.23 292526 chrX 18660251 18660251 G A rs150172233 RS1 Nonsynonymous SNV T183I 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 23.3 292527 chrX 21675075 21675075 G T KLHL34 Nonsynonymous SNV P278T 0 0 0.007 0 0 0 0 2 0 0 1 0 0.004 292528 chr12 109221172 109221172 C G rs779797750 SSH1 Nonsynonymous SNV A4P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.141 292529 chr22 50659047 50659047 G T rs147606883 TUBGCP6 Nonsynonymous SNV D1247E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 292530 chr12 122252429 122252429 G T SETD1B Nonsynonymous SNV G770C 0.002 0 0 0 2 0 0 0 0 0 0 0 9.589 292531 chr12 122260928 122260928 C T SETD1B Synonymous SNV P1481P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 5.372 292532 chr12 122669295 122669295 A C rs368951248 LRRC43 Nonsynonymous SNV Y127S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 292533 chrX 47774873 47774873 T G rs202107980 ZNF81 Nonsynonymous SNV C276W 0.001 0 0.01 0 1 0 0 3 0 0 1 0 23.7 292534 chr12 101685525 101685525 G A rs73376757 UTP20 Synonymous SNV S299S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.533 292535 chr12 122701414 122701414 A G rs373222544 DIABLO Synonymous SNV A9A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 292536 chr12 101736240 101736240 T C rs73378743 UTP20 Nonsynonymous SNV I1373T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.3 292537 chr22 50969459 50969459 G A ODF3B Synonymous SNV L149L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 292538 chr12 113532966 113532966 C A rs773827724 DTX1 Synonymous SNV T502T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 292539 chr12 114296645 114296645 G A RBM19 Nonsynonymous SNV T872I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 292540 chr2 197594775 197594775 A G rs376127384 CCDC150 Nonsynonymous SNV N315S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 292541 chr12 109017614 109017614 G A rs112473865 SELPLG Nonsynonymous SNV T173M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.4 292542 chr12 109719317 109719317 G T rs374757575 FOXN4 Nonsynonymous SNV H397N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.785 292543 chr2 203051767 203051767 A C KIAA2012 Nonsynonymous SNV E774D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 292544 chr2 238483760 238483760 G T rs112742374 RAB17 Nonsynonymous SNV L181M 0.003 0 0 0 4 0 0 0 0 0 0 0 13.67 292545 chr2 238629431 238629431 A G LRRFIP1 Nonsynonymous SNV E72G 0.003 0 0 0 4 0 0 0 0 0 0 0 24 292546 chr12 121471325 121471325 G A rs61733224 OASL Synonymous SNV I140I 0.002 0 0 0 2 0 0 0 0 0 0 0 5.241 292547 chr12 110874450 110874450 C A rs374261283 ARPC3 Synonymous SNV T97T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 292548 chr2 107459943 107459943 G A ST6GAL2 Nonsynonymous SNV P164L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 292549 chr10 103897666 103897666 A C PPRC1 Synonymous SNV P71P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.743 292550 chr10 105361897 105361897 G A rs139093195 SH3PXD2A Synonymous SNV A907A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.571 292551 chr2 113514564 113514564 C T rs147582835 CKAP2L Synonymous SNV S128S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.07 292552 chr12 119617367 119617367 G A rs757293016 HSPB8 Nonsynonymous SNV E84K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.43 292553 chr12 123335798 123335798 G C HIP1R Synonymous SNV V177V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.934 292554 chr13 22178268 22178268 C G MICU2 Nonsynonymous SNV S7T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 292555 chr2 21233877 21233877 C T rs368970025 APOB Nonsynonymous SNV V1955M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.118 292556 chr12 125298872 125298872 C T rs758526740 SCARB1 Nonsynonymous SNV R169H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 292557 chr2 219603801 219603801 C T rs774276539 TTLL4 Nonsynonymous SNV R468C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 292558 chr10 12149948 12149948 C T DHTKD1 Synonymous SNV L696L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.453 292559 chr2 139308592 139308592 T G SPOPL Nonsynonymous SNV L107R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 292560 chr12 129189652 129189652 G A rs76335652 TMEM132C Synonymous SNV T713T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.036 292561 chr13 52684698 52684698 C T NEK5 Nonsynonymous SNV V110I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 292562 chr10 12620763 12620763 T G rs7912031 MIR4480 0 0 0.003 0 0 0 0 1 0 0 0 0 3.78 292563 chr12 132335573 132335573 G A rs755303273 MMP17 Synonymous SNV V522V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.408 292564 chr10 127512179 127512179 C A rs113227232 BCCIP Nonsynonymous SNV P18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 292565 chr12 133810880 133810880 C T rs138587947 ANHX Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 292566 chr13 37012924 37012924 C A rs764214378 CCNA1 Nonsynonymous SNV F270L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 292567 chr13 23907266 23907266 C T rs967177778 SACS Synonymous SNV V3436V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.639 292568 chr13 40297564 40297564 A C COG6 Nonsynonymous SNV H560P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 292569 chr2 170009349 170009349 C T rs150382715 LRP2 Nonsynonymous SNV V4141I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.49 292570 chr13 32747539 32747539 G A rs747277118 FRY Synonymous SNV S729S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 292571 chr2 173451103 173451103 G A rs555187654 PDK1 Nonsynonymous SNV R348H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 292572 chr13 34540254 34540254 A G RFC3 Nonsynonymous SNV I304V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292573 chr13 58207780 58207780 C T PCDH17 Nonsynonymous SNV P367L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 292574 chr2 176981739 176981739 A G rs752979258 HOXD10 Nonsynonymous SNV R60G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 292575 chr10 22830843 22830843 G A rs746609921 PIP4K2A Nonsynonymous SNV P250L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 292576 chr10 23287196 23287196 G A rs140763346 ARMC3 Nonsynonymous SNV R169H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 292577 chr13 48654102 48654102 C T MED4 Nonsynonymous SNV R127Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 292578 chr10 23633567 23633567 C G rs199944244 C10orf67 Nonsynonymous SNV R47P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.64 292579 chr13 75886882 75886882 T G rs747520900 TBC1D4 Nonsynonymous SNV Q729P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 292580 chr13 113825987 113825987 G A rs749067112 PROZ Synonymous SNV A257A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.68 292581 chr13 76423228 76423228 T A LMO7 Stop gain Y1061X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 292582 chr2 239039264 239039264 C A rs369076772 ESPNL Nonsynonymous SNV P269T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292583 chr10 26589839 26589839 A G GAD2 Synonymous SNV Q569Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.094 292584 chr13 78492502 78492502 C T rs772428659 EDNRB Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 292585 chr10 28229711 28229711 A G rs946189100 ARMC4 Synonymous SNV H114H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.094 292586 chr10 32780886 32780886 T C rs145255525 CCDC7 Nonsynonymous SNV M278T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 292587 chr14 21570257 21570257 G A rs183259006 TMEM253 Nonsynonymous SNV R85H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 292588 chr13 96505874 96505874 T C rs35072323 UGGT2 Nonsynonymous SNV I1403V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 292589 chr2 27800736 27800736 T A C2orf16 Nonsynonymous SNV S433T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 292590 chr10 50708610 50708610 C A rs116373975 ERCC6 Nonsynonymous SNV K553N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 22.1 292591 chr2 190636608 190636608 T C rs148150815 ORMDL1 Nonsynonymous SNV Y116C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 292592 chr10 5772678 5772678 T C rs779327188 TASOR2 Nonsynonymous SNV L239P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.167 292593 chr14 21623975 21623975 A T rs45570932 OR5AU1 Synonymous SNV T19T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292594 chr2 39033743 39033743 G A rs535060789 DHX57 Synonymous SNV N1156N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 292595 chr10 71391560 71391560 A G rs138141237 FAM241B Nonsynonymous SNV T21A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 5.103 292596 chr10 72517763 72517763 T C rs201862024 ADAMTS14 Nonsynonymous SNV C995R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 292597 chr10 72645606 72645606 C T PCBD1 Synonymous SNV L28L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 292598 chr2 208615696 208615696 G A CCNYL1 Synonymous SNV R223R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 292599 chr10 75407547 75407547 C G rs767453923 SYNPO2L Synonymous SNV T397T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 292600 chr10 77159379 77159379 T C rs754553663 ZNF503 Nonsynonymous SNV M357V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 292601 chr10 77163015 77163015 A G rs7900698 ZNF503-AS2 0 0 0.007 0 0 0 0 2 0 0 0 0 8.483 292602 chr2 219251920 219251920 G A rs150015128 SLC11A1 Nonsynonymous SNV D180N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 292603 chr14 64989302 64989302 A G rs140410486 ZBTB1 Synonymous SNV E360E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.707 292604 chr2 7005789 7005789 C G CMPK2 Synonymous SNV S13S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 292605 chr14 67671511 67671511 C T rs970398496 FAM71D Nonsynonymous SNV T206M 0 0 0 2 0 0 0.005 0 0 0 0 0 1.133 292606 chr14 71555091 71555091 T C rs376472103 PCNX1 Synonymous SNV Y1683Y 0 0 0 2 0 0 0.005 0 0 0 0 0 1.906 292607 chr10 96348015 96348015 G A rs765242262 HELLS Synonymous SNV L354L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.862 292608 chr14 24737606 24737606 G A rs369486237 RABGGTA Nonsynonymous SNV R343W 0.001 0 0 0 1 0 0 0 0 0 0 0 28 292609 chr2 73717330 73717330 G C ALMS1 Synonymous SNV G2747G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.779 292610 chr10 99212680 99212680 C T rs150278677 ZDHHC16 Nonsynonymous SNV P121S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 292611 chr2 225449703 225449703 C G rs139996986 CUL3 Synonymous SNV T8T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 292612 chr14 55243216 55243216 G A rs779370893 SAMD4A Nonsynonymous SNV V259M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292613 chr14 35182490 35182490 G A rs756687915 CFL2 Nonsynonymous SNV S77F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 292614 chr14 77900223 77900223 G A rs778181495 VIPAS39 Stop gain R332X 0 0 0 1 0 0 0.003 0 0 0 0 0 42 292615 chr14 39763224 39763224 G T rs141828907 MIA2 Nonsynonymous SNV R92S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 5.66 292616 chr14 45605264 45605264 G A rs145745979 FANCM Synonymous SNV Q10Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.09 292617 chr2 232995393 232995393 A C rs751721861 DIS3L2 Nonsynonymous SNV R222S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.011 292618 chr14 64988719 64988719 C T ZBTB1 Nonsynonymous SNV T166M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 292619 chr14 64676684 64676684 C T SYNE2 Nonsynonymous SNV R6189W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292620 chr3 101038639 101038639 G A rs183804037 IMPG2 Synonymous SNV P41P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 292621 chr14 93673663 93673663 G A rs776191431 UBR7 Synonymous SNV G9G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.39 292622 chr14 71443686 71443686 G A rs202023533 PCNX1 Nonsynonymous SNV R211H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 292623 chr14 71575451 71575451 G T rs980089222 PCNX1 Synonymous SNV G2033G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.987 292624 chr14 73181170 73181170 C T rs61742825 DPF3 Nonsynonymous SNV A189T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 292625 chr11 1031978 1031978 G A rs199709162 MUC6 Nonsynonymous SNV S64L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.518 292626 chr14 60444049 60444049 T C rs78229673 LRRC9 Synonymous SNV P582P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.612 292627 chr14 60524662 60524662 G A rs77893491 LRRC9 Nonsynonymous SNV E1400K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.48 292628 chr11 106680762 106680762 T A GUCY1A2 Nonsynonymous SNV Y550F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 292629 chr14 60581906 60581906 A G rs75475362 PCNX4 Nonsynonymous SNV I128V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 292630 chr14 62567233 62567233 C T SYT16 Synonymous SNV A401A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 292631 chr11 1103269 1103269 C T rs377216728 MUC2 Synonymous SNV S2673S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.4 292632 chr14 77950856 77950856 A T rs140927914 ISM2 Nonsynonymous SNV L146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 292633 chr14 78325492 78325492 A G ADCK1 Nonsynonymous SNV Q98R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 292634 chr3 122354901 122354901 T G rs747513128 PARP15 Nonsynonymous SNV F361C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.57 292635 chr11 120856721 120856721 A T rs759979824 GRIK4 Nonsynonymous SNV I875F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.992 292636 chr14 93688720 93688720 G A UBR7 Synonymous SNV T395T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 292637 chr15 33261662 33261662 C T rs776696931 FMN1 Nonsynonymous SNV R524Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.04 292638 chr11 12225872 12225872 G A rs773933327 MICAL2 Nonsynonymous SNV V114M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 292639 chr15 35226784 35226784 C T rs746337676 AQR Nonsynonymous SNV M257I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 292640 chr15 35664466 35664466 T C rs945185894 MIR3942 0 0 0 1 0 0 0.003 0 0 0 0 0 3.52 292641 chr14 95669574 95669574 G A rs140829875 CLMN Synonymous SNV S704S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.299 292642 chr15 40396444 40396444 C T rs146377359 BMF Synonymous SNV E130E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.45 292643 chr2 37311679 37311679 A G GPATCH11 Nonsynonymous SNV T7A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.512 292644 chr14 103352540 103352540 C T rs186117694 TRAF3 Synonymous SNV T195T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 292645 chr2 40397449 40397449 C T rs137879982 SLC8A1 Synonymous SNV P665P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.78 292646 chr11 1275952 1275952 G A MUC5B Nonsynonymous SNV S5169N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 292647 chr15 40293373 40293373 C T rs187775209 EIF2AK4 Nonsynonymous SNV S1036L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 292648 chr3 138665001 138665001 G A FOXL2 Synonymous SNV Y188Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.511 292649 chr14 105613027 105613027 G A rs150043609 JAG2 Synonymous SNV Y800Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.547 292650 chr14 105639582 105639582 T A rs144243661 NUDT14 Nonsynonymous SNV T149S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 292651 chr11 15994521 15994521 G A rs771672979 SOX6 Nonsynonymous SNV P747L 0 0 0.003 0 0 0 0 1 0 0 0 0 29 292652 chr11 1651583 1651583 A G rs926063975 KRTAP5-5 Synonymous SNV S171S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 292653 chr15 25924820 25924820 C T ATP10A Nonsynonymous SNV A1390T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.681 292654 chr14 101349470 101349470 T G rs766031508 RTL1 Synonymous SNV L552L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.645 292655 chr2 55209708 55209708 G A rs140801868 RTN4 Synonymous SNV C108C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 292656 chr15 33358858 33358858 T A rs187679649 FMN1 Nonsynonymous SNV I410F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 292657 chr14 105180977 105180977 G A rs9672065 INF2 Nonsynonymous SNV G1160S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 292658 chr14 105360146 105360146 G T rs370907661 CEP170B Nonsynonymous SNV A1376S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 292659 chr15 56676229 56676229 G A rs200499453 TEX9 Nonsynonymous SNV R13K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 292660 chr11 20805255 20805255 C T rs778650800 NELL1 Nonsynonymous SNV H72Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 292661 chr2 74596485 74596485 G A rs967117932 DCTN1 Nonsynonymous SNV T375M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 292662 chr15 26866590 26866590 C T rs777756010 GABRB3 Nonsynonymous SNV R26Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 292663 chr11 314239 314239 C T rs200309366 IFITM1 Synonymous SNV T23T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 292664 chr11 315096 315096 G A rs770237696 IFITM1 Nonsynonymous SNV E121K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.401 292665 chr15 65489197 65489197 C T rs375433303 CILP Nonsynonymous SNV A1143T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.044 292666 chr15 42374546 42374546 C A rs144813410 PLA2G4D Synonymous SNV G238G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.326 292667 chr15 65678904 65678904 C T rs753228483 IGDCC4 Nonsynonymous SNV R979H 0 0 0 1 0 0 0.003 0 0 0 0 0 32 292668 chr15 42867925 42867925 G A rs373035305 STARD9 Synonymous SNV V4V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.16 292669 chr11 36103230 36103230 C T rs375279667 LDLRAD3 Nonsynonymous SNV T25I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 292670 chr15 45895386 45895386 G T rs756480888 BLOC1S6 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 292671 chr15 52402047 52402047 A C rs752344133 BCL2L10 X205G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 292672 chr11 47371620 47371620 G A rs377520770 MYBPC3 Synonymous SNV P150P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 5.633 292673 chr11 48267282 48267282 C T rs144345172 OR4X2 Synonymous SNV S209S 0.002 0 0.007 0 2 0 0 2 0 0 0 0 5.759 292674 chr15 59453379 59453379 C T rs202237883 MYO1E Nonsynonymous SNV G893D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 292675 chr15 42500285 42500285 C A VPS39 Nonsynonymous SNV A23S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292676 chr15 43017690 43017690 C T rs778331751 CDAN1 Synonymous SNV R1149R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 292677 chr15 43531385 43531385 C T rs772874758 TGM5 Nonsynonymous SNV A279T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 292678 chr15 85327400 85327400 C T rs747477422 ZNF592 Synonymous SNV L498L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.919 292679 chr15 44960609 44960609 T C PATL2 Synonymous SNV G243G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.438 292680 chr15 45411531 45411531 C G DUOXA1 Nonsynonymous SNV A224P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 292681 chr15 65943052 65943052 T C rs375260297 SLC24A1 Synonymous SNV D182D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.143 292682 chr3 37081755 37081755 A G rs587779954 MLH1 Nonsynonymous SNV K188R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.81 292683 chr15 74907831 74907831 G A rs762972826 CLK3 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.898 292684 chr15 89056256 89056256 G C DET1 Nonsynonymous SNV P527A 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 292685 chr15 78454020 78454020 T C rs779572980 IDH3A Synonymous SNV S129S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.57 292686 chr15 77907601 77907601 G C rs937326075 LINGO1 Synonymous SNV G216G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.234 292687 chr15 100252735 100252736 AG - MEF2A Q350Pfs*34 0 0 0 1 0 0 0.003 0 0 0 0 0 292688 chr15 100252738 100252741 AGCA - MEF2A Q351Rfs*29 0 0 0 1 0 0 0.003 0 0 0 0 0 292689 chr3 12785415 12785415 G T rs374102262 TMEM40 Nonsynonymous SNV H111Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 292690 chr15 67813624 67813624 - C C15orf61 Frameshift insertion L14Pfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 292691 chr3 44488446 44488446 A G rs139105746 ZNF445 Nonsynonymous SNV I894T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.254 292692 chr3 44684679 44684679 T C ZNF197, ZNF660-ZNF197 Nonsynonymous SNV V473A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.527 292693 chr15 71125273 71125273 C G rs371576145 LARP6 Nonsynonymous SNV W14C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 292694 chr15 74328275 74328275 C T rs773258021 PML Nonsynonymous SNV R777C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.275 292695 chr16 624149 624149 G A rs56293456 PIGQ Synonymous SNV P25P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.829 292696 chr16 1716490 1716490 C T rs201449933 CRAMP1 Synonymous SNV T975T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.62 292697 chr15 83677274 83677274 A G rs779616316 C15orf40 Nonsynonymous SNV F131S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.442 292698 chr16 2236718 2236718 G A rs751131105 CASKIN1 Synonymous SNV V346V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.875 292699 chr11 60567320 60567320 G T rs762053702 MS4A10 Nonsynonymous SNV V248F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.863 292700 chr15 101562605 101562605 T A rs200770615 LRRK1 Nonsynonymous SNV S624T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 292701 chr3 151166009 151166009 A G rs533886363 IGSF10 Nonsynonymous SNV I587T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 292702 chr11 607970 607970 C T rs777056013 PHRF1 Synonymous SNV S838S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.822 292703 chr11 61254480 61254480 C G rs774623647 PPP1R32 Nonsynonymous SNV R279G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 292704 chr15 89824498 89824498 T G rs775006497 FANCI Synonymous SNV L493L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.302 292705 chr16 1502858 1502858 G A rs778642605 CLCN7 Synonymous SNV A393A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 292706 chr15 94841630 94841630 C T rs557766395 MCTP2 Nonsynonymous SNV R46C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 292707 chr16 3647564 3647564 G A rs377440877 SLX4 Nonsynonymous SNV T500M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.4 292708 chr16 2283638 2283638 C T rs201296918 E4F1 Nonsynonymous SNV P419L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 292709 chr11 65375811 65375811 G A MAP3K11 Nonsynonymous SNV A283V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 292710 chr16 18800331 18800331 G C rs766090010 RPS15A Synonymous SNV V35V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.489 292711 chr16 19051741 19051741 G A rs73528934 TMC7 Nonsynonymous SNV G95D 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Benign 23.8 292712 chr3 183963114 183963114 G A rs201087932 ALG3 Synonymous SNV C111C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.78 292713 chr11 65650889 65650889 A G CTSW Synonymous SNV G338G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.419 292714 chr11 66006632 66006632 T C rs201812420 PACS1 Synonymous SNV P771P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.547 292715 chr16 683677 683677 C T rs200981073 WFIKKN1 Nonsynonymous SNV R423W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 292716 chr16 703622 703622 G A rs184798708 WDR90 Nonsynonymous SNV R444Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 292717 chr16 23646872 23646872 A T rs377149139 PALB2 Nonsynonymous SNV L332H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 13.49 292718 chr16 767312 767312 A C rs367702264 METRN Synonymous SNV R269R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.607 292719 chr4 175898555 175898555 C T rs78280171 ADAM29 Nonsynonymous SNV P627S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 292720 chr4 114279362 114279362 G A ANK2 Synonymous SNV S3196S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.46 292721 chr16 30545769 30545769 C T ZNF747 Nonsynonymous SNV E78K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 15.5 292722 chr11 69625218 69625218 C T FGF3 Nonsynonymous SNV R192Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 292723 chr11 70260719 70260719 C T rs754494477 CTTN Synonymous SNV F121F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 292724 chr16 4802581 4802581 C A ZNF500 Nonsynonymous SNV Q413H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 292725 chr16 2983906 2983906 C T rs757850948 FLYWCH1 Nonsynonymous SNV P480L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 292726 chr16 21045401 21045401 C T rs374903404 DNAH3 Nonsynonymous SNV E1652K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292727 chr11 74994523 74994523 A G rs774428234 ARRB1 Synonymous SNV Y54Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 292728 chr11 75115483 75115483 G A SNORD15B 0 0 0.003 0 0 0 0 1 0 0 0 0 17 292729 chr11 76372115 76372115 C T rs751754150 LRRC32 Synonymous SNV A64A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.942 292730 chr4 140616400 140616400 G T rs770784272 MGST2 Nonsynonymous SNV A2S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 292731 chr16 10837737 10837737 A C rs372365710 NUBP1 Nonsynonymous SNV H6P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 292732 chr16 23453877 23453877 C T rs144180834 COG7 Synonymous SNV V175V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.67 292733 chr11 76910855 76910855 C T rs201321140 MYO7A Nonsynonymous SNV P1615L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 292734 chr16 3705881 3705881 A G rs142318540 DNASE1 Nonsynonymous SNV Q60R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 292735 chr4 147863792 147863792 T G rs750225051 TTC29 Nonsynonymous SNV T6P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.617 292736 chr16 50257234 50257234 A G rs778428155 TENT4B Synonymous SNV V439V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.796 292737 chr16 24831512 24831512 C T rs765222745 TNRC6A Synonymous SNV T1662T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 292738 chr3 97852300 97852300 A C rs113778704 OR5H1 Synonymous SNV G253G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 292739 chr12 100441751 100441751 T C UHRF1BP1L Nonsynonymous SNV I1314M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 292740 chr16 21261592 21261597 AGAGGA - rs890943330 ANKS4B E238_E239del 0.001 0 0 0 1 0 0 0 0 0 0 0 292741 chr16 30675638 30675638 C T rs756509028 FBRS Synonymous SNV S386S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 292742 chr4 177650860 177650860 A G VEGFC Nonsynonymous SNV V63A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.866 292743 chr16 31340592 31340592 A G ITGAM Nonsynonymous SNV N946D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 292744 chr16 48303929 48303929 C T rs377497324 LONP2 Nonsynonymous SNV R285C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 292745 chr12 104250941 104250941 G A rs146314282 TTC41P 0 0 0.014 0 0 0 0 4 0 0 0 0 7.858 292746 chr16 67682044 67682044 C T rs371929361 CARMIL2 Synonymous SNV C387C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.885 292747 chr3 50425020 50425020 G A CACNA2D2 Synonymous SNV D163D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 292748 chr16 70351397 70351397 A G DDX19B 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292749 chr16 54965209 54965209 G C rs745416388 IRX5 Synonymous SNV T33T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.08 292750 chr4 8588871 8588871 G A rs148589120 GPR78 Synonymous SNV P291P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.538 292751 chr16 86602055 86602055 C T rs771164168 FOXC2 Nonsynonymous SNV L372F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.918 292752 chr16 57017279 57017279 G A rs2228667 CETP Nonsynonymous SNV V395M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 292753 chr3 64518943 64518943 G T rs372271088 ADAMTS9 Nonsynonymous SNV R1845S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292754 chr12 120960091 120960091 A C rs371966508 COQ5 Nonsynonymous SNV V93G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 292755 chr4 186272616 186272616 A C rs28435173 SNX25 Nonsynonymous SNV E609D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 292756 chr16 81214876 81214876 G T rs764687757 PKD1L2 Nonsynonymous SNV S666R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 292757 chr4 186382253 186382253 A G rs112294827 CCDC110 Nonsynonymous SNV F100L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.25 292758 chr16 67220542 67220542 G A rs145228772 EXOC3L1 Nonsynonymous SNV R435C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292759 chr16 67696517 67696517 C T rs745504473 PARD6A Synonymous SNV R335R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.275 292760 chr12 124315171 124315171 T G rs371490353 DNAH10 Synonymous SNV A1372A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.388 292761 chr16 85695145 85695145 C T GSE1 Synonymous SNV L574L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 292762 chr4 42041070 42041070 T G rs747568245 SLC30A9 Nonsynonymous SNV I246S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 292763 chr12 12815026 12815026 C T rs371334658 GPR19 Synonymous SNV T119T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.458 292764 chr4 2933314 2933314 G A rs148616418 MFSD10 Nonsynonymous SNV H331Y 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 292765 chr12 129308409 129308420 GCCGCCGCCGCG - rs878946519 SLC15A4 A24_A27del 0 0 0.003 0 0 0 0 1 0 0 0 0 292766 chr4 3076642 3076643 GC - HTT Q31Afs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 292767 chr4 3076645 3076654 GCAGCAGCAG - HTT Q31Hfs*67 0.001 0 0 0 1 0 0 0 0 0 0 0 292768 chr3 9989144 9989150 TGGGTTT - rs776371443 PRRT3 Q569Hfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 292769 chr3 9989153 9989153 C A rs753754591 PRRT3 Synonymous SNV L568L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.268 292770 chr3 9989155 9989155 G A rs757106424 PRRT3 Synonymous SNV L568L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.246 292771 chr3 9989157 9989161 GGTGG - rs763088659 PRRT3 P566Afs*84 0.001 0 0 0 1 0 0 0 0 0 0 0 292772 chr3 9989163 9989164 GG - rs766327385 PRRT3 P565Afs*86 0.001 0 0 0 1 0 0 0 0 0 0 0 292773 chr3 9989167 9989167 G - rs751799228 PRRT3 L564Cfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 292774 chr16 82104680 82104680 G C rs199780292 HSD17B2 Nonsynonymous SNV L204F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 292775 chr17 2601570 2601570 G A rs371039833 CLUH Synonymous SNV P527P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.622 292776 chr4 57796605 57796605 C T rs769974147 REST Synonymous SNV S527S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.931 292777 chr16 76486533 76486533 T C rs771323494 CNTNAP4 Synonymous SNV T271T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.341 292778 chr16 84228904 84228904 A C rs780180604 ADAD2 Nonsynonymous SNV I246L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 292779 chr12 14832591 14832591 T C rs749811241 GUCY2C Nonsynonymous SNV N277S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 292780 chr16 81208403 81208403 C A rs774721279 PKD1L2 Nonsynonymous SNV K215N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 292781 chr16 89724239 89724239 - T rs973366483 SPATA33 Frameshift insertion C12Lfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 292782 chr16 81321010 81321010 C T rs763950117 BCO1 Synonymous SNV D471D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.231 292783 chr16 83994249 83994249 C G rs62640906 OSGIN1 Nonsynonymous SNV R94G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.9 292784 chr16 84203788 84203788 C A rs145680314 DNAAF1 Nonsynonymous SNV P216T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.343 292785 chr17 3526660 3526660 G A rs141473852 SHPK Nonsynonymous SNV T207M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 31 292786 chr5 131553571 131553571 A T rs765920073 MIR6830 0.003 0 0 0 3 0 0 0 0 0 0 0 5.434 292787 chr5 132569154 132569154 A G rs761870462 FSTL4 Nonsynonymous SNV S324P 0.003 0 0 0 3 0 0 0 0 0 0 0 11.7 292788 chr12 2966121 2966121 C T TEX52 Synonymous SNV Q24Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 292789 chr12 3103940 3103940 G A TEAD4 Nonsynonymous SNV G3D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 292790 chr16 88873770 88873770 C T rs200672589 CDT1 Nonsynonymous SNV R453W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.2 292791 chr4 138452019 138452019 C T rs141359488 PCDH18 Synonymous SNV Q408Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.144 292792 chr4 138453216 138453216 G T rs201444340 PCDH18 Nonsynonymous SNV H9Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 292793 chr17 7365475 7365475 G A rs576175120 ZBTB4 Synonymous SNV A942A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.243 292794 chr16 88788378 88788378 G T rs779515731 PIEZO1 Synonymous SNV A1684A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 292795 chr16 88789731 88789731 C T rs777901740 PIEZO1 Synonymous SNV A1447A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.59 292796 chr4 153273882 153273882 T A rs149080811 FBXW7 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 292797 chr4 154215524 154215524 G T rs775717184 TRIM2 Nonsynonymous SNV A198S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.3 292798 chr17 4837352 4837352 G A rs755360664 GP1BA Nonsynonymous SNV V485I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 292799 chr12 49431460 49431460 C T KMT2D Nonsynonymous SNV A3227T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.66 292800 chr12 50367291 50367291 C T rs771110605 AQP6 Nonsynonymous SNV T112M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 292801 chr4 159048692 159048692 T C rs143892979 GASK1B Nonsynonymous SNV D476G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 292802 chr17 1840969 1840969 C T rs371594240 RTN4RL1 Synonymous SNV P49P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 292803 chr17 8053365 8053365 T C rs760177544 PER1 Synonymous SNV P151P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.851 292804 chr17 7259355 7259355 - C rs780836970 TMEM95 Frameshift insertion A108Rfs*52 0.001 0 0 0 1 0 0 0 0 0 0 0 292805 chr12 53086665 53086665 C T rs763544685 KRT77 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 292806 chr17 3030289 3030289 C T OR1G1 Nonsynonymous SNV S186N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.07 292807 chr12 53679836 53679836 C G rs759023267 ESPL1 Nonsynonymous SNV L1106V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 292808 chr17 3599285 3599316 GCCCGCCTGCCCCATGGCGCGCTCTCAGCCGG - rs752235387 P2RX5 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 292809 chr5 118506879 118506879 A C rs146373954 DMXL1 Nonsynonymous SNV R2131S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 292810 chr17 9745845 9745845 C T rs371736792 GLP2R Nonsynonymous SNV A139V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.995 292811 chr17 4072560 4072560 C T rs936063380 ANKFY1 Synonymous SNV P1145P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 292812 chr17 17701258 17701258 C G rs150900749 RAI1 Nonsynonymous SNV L1666V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 292813 chr17 4713296 4713296 C T rs139166795 PLD2 Nonsynonymous SNV H278Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 10.96 292814 chr17 4725937 4725937 C T rs114652175 PLD2 Synonymous SNV I849I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.05 292815 chr17 4799741 4799741 G A rs368125259 MINK1 Synonymous SNV T1174T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 292816 chr17 18054494 18054494 G A rs754267428 MYO15A Nonsynonymous SNV R2515H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.1 292817 chr12 57843716 57843716 C T rs770846481 INHBC Nonsynonymous SNV P324S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 292818 chr12 58152402 58152402 G A rs775950842 MARCHF9 Nonsynonymous SNV V255M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 292819 chr12 58152580 58152580 G A MARCHF9 Nonsynonymous SNV G314D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 292820 chr12 58221334 58221334 C T rs761716193 CTDSP2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 292821 chr12 6973275 6973275 C T rs369107454 USP5 Synonymous SNV A720A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 292822 chr4 36109211 36109211 C T rs368144802 ARAP2 Nonsynonymous SNV A1421T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.389 292823 chr17 8272626 8272626 C T rs201896677 KRBA2 Synonymous SNV T353T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.578 292824 chr17 26495572 26495572 G T rs776269119 NLK Synonymous SNV L312L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.177 292825 chr17 26881988 26881988 G A rs771229388 PIGS Nonsynonymous SNV R425W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.6 292826 chr17 11145228 11145228 C T rs372008198 SHISA6 Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 292827 chr4 39271663 39271663 A G WDR19 Synonymous SNV K982K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.563 292828 chr17 27228630 27228630 C A rs750035478 DHRS13 Nonsynonymous SNV S84I 0.002 0 0 0 2 0 0 0 0 0 0 0 32 292829 chr17 10728749 10728749 T C rs1052600197 PIRT Nonsynonymous SNV I72V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 292830 chr12 93206812 93206812 C A EEA1 Nonsynonymous SNV A663S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 292831 chr12 95603419 95603419 T G FGD6 Nonsynonymous SNV Q547H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.527 292832 chr17 16855788 16855788 C G rs149084717 TNFRSF13B Nonsynonymous SNV Q57H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 17.79 292833 chr17 17250222 17250222 C T rs762190563 NT5M Synonymous SNV D216D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 292834 chr17 19648302 19648302 C T rs116754663 ALDH3A1 Synonymous SNV A47A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.25 292835 chr5 150932885 150932885 T C rs553540151 FAT2 Nonsynonymous SNV I1337V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.88 292836 chr5 37173990 37173990 C A CPLANE1 Nonsynonymous SNV G2013V 0.003 0 0 0 3 0 0 0 0 0 0 0 27.6 292837 chr17 35896168 35896168 C T SYNRG Synonymous SNV V987V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 292838 chr17 36879016 36879016 A C MLLT6 Nonsynonymous SNV T960P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 292839 chr17 20149341 20149341 C T rs769969300 SPECC1 Synonymous SNV T737T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 292840 chr13 109793064 109793064 C A rs367746333 MYO16 Nonsynonymous SNV P1502T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 292841 chr17 38497847 38497847 C A rs542057035 RARA-AS1 0.002 0 0.003 0 2 0 0 1 0 0 0 0 17.66 292842 chr17 27445133 27445133 G A rs753876249 MYO18A Synonymous SNV P656P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 292843 chr17 40695098 40695098 G A rs760335984 NAGLU Synonymous SNV P358P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.432 292844 chr17 27959444 27959444 C T rs145810496 SSH2 Nonsynonymous SNV R896H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 292845 chr5 179106037 179106040 CCGC - CBY3 P93Hfs*86 0.001 0 0 0 1 0 0 0 0 0 0 0 292846 chr17 40695718 40695718 G A rs104894598 NAGLU Nonsynonymous SNV R565Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 32 292847 chr17 40767021 40767021 C T rs144903375 TUBG1 Nonsynonymous SNV R440W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 32 292848 chr17 47886508 47886508 A G rs141200367 KAT7 Nonsynonymous SNV I92V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 292849 chr17 36484835 36484835 C T rs750577756 GPR179 Synonymous SNV E1539E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.811 292850 chr17 36623425 36623425 G A rs562257674 ARHGAP23 Nonsynonymous SNV V501I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.798 292851 chr17 41958178 41958178 C T rs141122901 MPP2 Nonsynonymous SNV R333H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 292852 chr17 39394629 39394629 C T rs372779791 KRTAP9-8 Nonsynonymous SNV T109M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 292853 chr5 35691253 35691253 C T rs769772873 SPEF2 Stop gain R547X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 292854 chr17 56435253 56435253 G A rs146366849 RNF43 Synonymous SNV D501D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.15 292855 chr17 47793645 47793645 C T rs151199188 FAM117A Nonsynonymous SNV D315N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 292856 chr17 45925466 45925466 C T rs769192100 SP6 Synonymous SNV P110P 0.003 0 0 0 3 0 0 0 0 0 0 0 5.079 292857 chr17 46058035 46058035 T C CDK5RAP3 Nonsynonymous SNV L160P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 292858 chr5 100147722 100147722 G A ST8SIA4 Synonymous SNV F303F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.457 292859 chr17 39728000 39728000 C T rs148867398 KRT9 Nonsynonymous SNV S82N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.5 292860 chr5 108521910 108521910 G C rs145807358 FER Nonsynonymous SNV S369T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 292861 chr17 39577186 39577186 A C rs144573570 KRT37 Nonsynonymous SNV C432G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.019 292862 chr6 106553352 106553352 C A rs140025520 PRDM1 Synonymous SNV L305L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 292863 chr17 56404078 56404078 C T rs765140985 TSPOAP1 Nonsynonymous SNV R136H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 292864 chr17 42030814 42030814 G A rs375624200 PYY Nonsynonymous SNV T13I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 292865 chr6 109225465 109225469 ACACA - ARMC2 Q130Sfs*13 0.002 0 0 0 2 0 0 0 0 0 0 0 292866 chr5 125918628 125918628 C T rs768899130 ALDH7A1 Synonymous SNV V144V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.21 292867 chr17 66270173 66270173 G A rs200490965 SLC16A6 Nonsynonymous SNV R91C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 292868 chr17 45468804 45468804 G A rs139923542 EFCAB13 Synonymous SNV A432A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.216 292869 chr17 71250088 71250088 G A rs367548246 CPSF4L Stop gain Q129X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 292870 chr14 23236525 23236525 A G rs768209892 OXA1L Synonymous SNV A44A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.491 292871 chr17 72436671 72436671 C T rs201003342 GPRC5C Synonymous SNV S252S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 292872 chr17 72889676 72889676 - GGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTGGGTTCCATC FADS6 P15_A16insTEPMEPTEPMEPTEPMEP 0.001 0 0 0 1 0 0 0 0 0 0 0 292873 chr5 13911517 13911517 C A DNAH5 Nonsynonymous SNV C541F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 292874 chr17 73813539 73813539 A G UNK Nonsynonymous SNV K413E 0.002 0 0 0 2 0 0 0 0 0 0 0 13.38 292875 chr17 73910114 73910114 G A rs369262043 FBF1 Synonymous SNV Y1003Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.123 292876 chr17 73951699 73951699 T C rs756260598 ACOX1 Nonsynonymous SNV K203R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.52 292877 chr5 140719519 140719519 T C PCDHGA2 Synonymous SNV L327L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.316 292878 chr17 74462265 74462265 A G AANAT Nonsynonymous SNV Q4R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 292879 chr14 45515766 45515766 A G TOGARAM1 Synonymous SNV V1391V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.4 292880 chr17 66871795 66871795 C T rs150253230 ABCA8 Nonsynonymous SNV V1444M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 292881 chr17 76075544 76075544 G A rs369485423 TNRC6C Synonymous SNV P1090P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 292882 chr14 51224125 51224125 A G rs776221740 NIN Nonsynonymous SNV M1208T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 292883 chr17 76886943 76886943 G A CEP295NL Nonsynonymous SNV A548V 0.002 0 0 0 2 0 0 0 0 0 0 0 1.673 292884 chr17 63014392 63014392 G A rs562209472 GNA13 Synonymous SNV N85N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.405 292885 chr17 78032424 78032424 C T rs572565666 CCDC40 Nonsynonymous SNV R431W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 292886 chr14 64465686 64465686 G T rs762347655 SYNE2 Nonsynonymous SNV R1136S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.022 292887 chr17 79090039 79090039 G C rs937943435 BAIAP2 Synonymous SNV L531L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.392 292888 chr17 79100268 79100268 G T rs149384471 AATK Synonymous SNV A135A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.119 292889 chr14 64687161 64687161 C T rs139826953 SYNE2 Synonymous SNV L131L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.17 292890 chr17 79517561 79517561 C T rs774395143 FAAP100 Nonsynonymous SNV R320Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 292891 chr6 116988268 116988268 T C rs777428856 ZUP1 Nonsynonymous SNV I30V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292892 chr17 72345450 72345450 G A rs201490676 KIF19 Nonsynonymous SNV R392Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 292893 chr5 151049319 151049319 G C rs779676614 SPARC Nonsynonymous SNV F118L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 292894 chr6 119136133 119136133 T C rs61742362 MCM9 Nonsynonymous SNV M1096V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 0.001 292895 chr17 72584791 72584791 A T rs370521746 CD300LD Nonsynonymous SNV S80T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 292896 chr17 74878373 74878373 G A rs147299608 MGAT5B Nonsynonymous SNV A119T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.5 292897 chr5 159659204 159659204 G T rs144539948 FABP6 Nonsynonymous SNV G56V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 292898 chr6 132874291 132874291 G A rs750414571 TAAR8 Nonsynonymous SNV V154M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 292899 chr14 77580239 77580239 G A rs769362669 CIPC Nonsynonymous SNV A260T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 292900 chr14 77735625 77735625 T C rs199645154 NGB Nonsynonymous SNV N45S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 292901 chr18 8784053 8784053 C T rs780158820 MTCL1 Nonsynonymous SNV R315W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 292902 chr17 73832921 73832921 G A rs751624266 UNC13D Synonymous SNV I378I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.37 292903 chr14 77942262 77942262 G T ISM2 Synonymous SNV R464R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.205 292904 chr18 12320534 12320534 G A rs58670524 TUBB6 0.001 0 0 0 1 0 0 0 0 0 0 0 2.219 292905 chr17 76109703 76109703 C G rs748630526 TMC6 Nonsynonymous SNV E760D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.5 292906 chr18 13621250 13621250 C T rs148805632 LDLRAD4 Nonsynonymous SNV R69W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 292907 chr5 176308201 176308201 G A rs200385786 HK3 Nonsynonymous SNV A882V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.201 292908 chr5 176517801 176517801 G A rs55701137 FGFR4 Synonymous SNV S137S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.415 292909 chr17 78919549 78919549 G A rs149016810 RPTOR Synonymous SNV P878P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 292910 chr14 95942041 95942042 GG - SYNE3 L40Gfs*29 0 0 0.003 0 0 0 0 1 0 0 0 0 292911 chr17 78082565 78082565 C T rs776704385 GAA Nonsynonymous SNV R422W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.49 292912 chr18 33048617 33048617 G A rs34130630 INO80C Synonymous SNV T124T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign 12.81 292913 chr18 33689682 33689682 A G rs761899532 SLC39A6 Synonymous SNV A714A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.306 292914 chr6 154428666 154428666 C A rs677830 OPRM1 Nonsynonymous SNV Q411K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.239 292915 chr18 33828916 33828916 A G rs55701019 MOCOS Synonymous SNV E664E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 4.36 292916 chr18 215504 215504 G A rs138671246 THOC1 Nonsynonymous SNV P535S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 292917 chr15 102389498 102389498 C G rs776193000 OR4F13P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.188 292918 chr15 22998473 22998473 C T rs150653373 CYFIP1 Synonymous SNV A624A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.95 292919 chr17 79514101 79514101 G A rs764728745 FAAP100 Synonymous SNV L669L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.203 292920 chr15 25451471 25451471 A G rs7176931 SNORD115-20 0 0 0.007 0 0 0 0 2 0 0 0 0 10.33 292921 chr15 25457102 25457102 C A rs73362147 PWAR4 0 0 0.007 0 0 0 0 2 0 0 0 0 1.071 292922 chr15 34014986 34014986 G A rs757123345 RYR3 Synonymous SNV P2230P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.18 292923 chr6 42023346 42023346 G A rs547928279 TAF8 Nonsynonymous SNV V94M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 292924 chr18 2920365 2920365 G T LPIN2 Nonsynonymous SNV P873T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.15 292925 chr18 3155043 3155043 A G MYOM1 Synonymous SNV D515D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.125 292926 chr5 38489231 38489231 A G rs200270315 LIFR Nonsynonymous SNV Y762H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 292927 chr5 38953184 38953184 C T rs772357145 RICTOR Nonsynonymous SNV G934S 0.001 0 0 0 1 0 0 0 0 0 0 0 35 292928 chr18 70532059 70532059 G A rs770389434 NETO1 Synonymous SNV C68C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.51 292929 chr18 25591835 25591835 C T CDH2 Nonsynonymous SNV G143E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 292930 chr18 12363829 12363829 C T rs199896352 AFG3L2 Synonymous SNV K193K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 292931 chr6 47749882 47749882 A G rs149802356 OPN5 Nonsynonymous SNV K27R 0.003 0 0 0 3 0 0 0 0 0 0 0 16.8 292932 chr5 54987018 54987018 G A rs770064253 SLC38A9 Nonsynonymous SNV R11W 0.001 0 0 0 1 0 0 0 0 0 0 0 1.511 292933 chr6 22290503 22290503 C T PRL Nonsynonymous SNV R131H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 292934 chr6 24278388 24278388 G A rs960125951 DCDC2 Nonsynonymous SNV P271S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 292935 chr19 964336 964336 C T rs61750976 ARID3A Synonymous SNV L285L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.94 292936 chr15 45404914 45404914 A G rs775647342 DUOX2 Nonsynonymous SNV C55R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.019 292937 chr6 25924064 25924064 C T rs143097622 SLC17A2 Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 292938 chr6 26056198 26056198 T G rs200019856 H1-2 Nonsynonymous SNV K153N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 292939 chr18 77891038 77891038 G T rs199819195 ADNP2 Nonsynonymous SNV G54V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 292940 chr19 519005 519005 G A rs754901983 TPGS1 Nonsynonymous SNV R152Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 292941 chr6 56485396 56485396 T C rs148413592 DST Nonsynonymous SNV M1146V 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 4.319 292942 chr6 56566691 56566691 G A rs183558657 DST Nonsynonymous SNV R106C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 292943 chr19 1912408 1912408 C T rs1016737811 ADAT3 Nonsynonymous SNV S105L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 292944 chr6 2836198 2836198 G A rs373748711 SERPINB1 Synonymous SNV I209I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 292945 chr18 43243808 43243808 T G rs188739993 SLC14A2 Synonymous SNV A470A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.943 292946 chr15 62246648 62246648 T C rs948427034 VPS13C Nonsynonymous SNV N1381S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.937 292947 chr18 47015687 47015687 C T rs576099460 SNORD58C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.613 292948 chr19 3590155 3590155 C T rs140960269 GIPC3 Synonymous SNV A302A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.16 292949 chr19 4433491 4433491 C T CHAF1A Synonymous SNV S876S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.99 292950 chr15 72190570 72190570 T C MYO9A Nonsynonymous SNV Q1425R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 292951 chr19 3578003 3578003 G A rs202033824 HMG20B Nonsynonymous SNV G278D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 292952 chr18 60212100 60212100 A C rs191241911 ZCCHC2 Synonymous SNV L398L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.855 292953 chr19 4217056 4217056 G A rs61742137 ANKRD24 Synonymous SNV T633T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.815 292954 chr19 4231215 4231215 G A rs568076086 EBI3 Nonsynonymous SNV R32Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 292955 chr6 41774191 41774191 G T rs993909548 USP49 Synonymous SNV A177A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292956 chr15 81274319 81274319 G C rs369992727 MESD Nonsynonymous SNV L140V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.2 292957 chr19 4298064 4298064 C T rs61753885 TMIGD2 Nonsynonymous SNV A109T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 292958 chr6 43252817 43252817 C T TTBK1 Synonymous SNV A1223A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 292959 chr6 43412914 43412914 C A rs199914561 ABCC10 Synonymous SNV I936I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 292960 chr19 4552469 4552469 G A rs763428054 SEMA6B Synonymous SNV P318P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 292961 chr15 85432068 85432068 G A rs781301587 SLC28A1 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.479 292962 chr6 43516123 43516123 C T rs367797922 XPO5 Synonymous SNV K645K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 292963 chr15 86124696 86124696 C T AKAP13 Nonsynonymous SNV P1133S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 292964 chr19 7437942 7437942 C G rs917986605 ARHGEF18 Stop gain S87X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 292965 chr19 7830573 7830573 A G rs1826305 CLEC4M Synonymous SNV A60A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.144 292966 chr19 3284943 3284943 C T rs146258101 CELF5 Synonymous SNV S336S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 292967 chr19 1049344 1049344 G A rs369072404 ABCA7 Synonymous SNV P820P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.775 292968 chr19 8564087 8564087 G A rs778712025 PRAM1 Nonsynonymous SNV P202L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 292969 chr19 8808442 8808442 A T rs782544746 ACTL9 Nonsynonymous SNV Y204N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 292970 chr16 1143650 1143650 C - C1QTNF8 A204Pfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 292971 chr6 133072295 133072295 C T VNN2 Nonsynonymous SNV E397K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 292972 chr16 1411903 1411903 C T rs145313679 GNPTG Synonymous SNV N88N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.57 292973 chr6 137322802 137322802 A G IL20RA Nonsynonymous SNV S408P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 292974 chr6 139583715 139583717 CCT - TXLNB E294Afs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 292975 chr19 4510929 4510929 C A rs772328804 PLIN4 Nonsynonymous SNV G1015C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 292976 chr19 9062618 9062618 G T MUC16 Synonymous SNV T8276T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.907 292977 chr16 22334211 22334211 G T rs150257924 POLR3E Nonsynonymous SNV G307C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 292978 chr19 12187665 12187665 A G rs924427085 ZNF844 Nonsynonymous SNV Q577R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.08 292979 chr19 6427452 6427452 C T rs200041103 SLC25A41 Nonsynonymous SNV A229T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 292980 chr16 2835012 2835012 G A rs374910362 PRSS33 Synonymous SNV D225D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.924 292981 chr16 30100300 30100300 G A rs148435229 TBX6 Synonymous SNV V195V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.55 292982 chr16 30678903 30678903 C T rs1010299815 FBRS Synonymous SNV P678P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 292983 chr6 161519351 161519365 CTGCTGCTGCTGCTG - MAP3K4 A1191_A1195del 0.001 0 0 0 1 0 0 0 0 0 0 0 292984 chr6 161519363 161519365 CTG - MAP3K4 A1195del 0.001 0 0 0 1 0 0 0 0 0 0 0 292985 chr6 165715685 165715726 CTTCAGATTACACAGGGTCTTCACTCCTGGCGTCTCGCAGTG - rs749591288 C6orf118 H29_K42del 0.001 0 0 0 1 0 0 0 0 0 0 0 292986 chr19 11516058 11516058 C G rs778468345 RGL3 Synonymous SNV L347L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 292987 chr19 11537779 11537779 T C rs143287033 CCDC151 Nonsynonymous SNV R150G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.8 292988 chr19 11618314 11618314 C T rs146112007 ECSIT Nonsynonymous SNV V123M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.193 292989 chr19 8651475 8651475 G A rs147238458 ADAMTS10 Synonymous SNV A277A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 292990 chr19 12766530 12766530 G A rs772270721 MAN2B1 Nonsynonymous SNV P603L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.194 292991 chr6 167549868 167549868 G A rs145186145 CCR6 Synonymous SNV P50P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.51 292992 chr19 12780213 12780213 G C rs61742430 WDR83OS Nonsynonymous SNV S2C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 292993 chr19 12979926 12979926 A G MAST1 Synonymous SNV R940R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 292994 chr16 4033352 4033352 C T rs150245494 ADCY9 Synonymous SNV T800T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 292995 chr19 14006270 14006270 G A C19orf57 Nonsynonymous SNV H180Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.32 292996 chr6 17629004 17629004 T C rs78541395 NUP153 Synonymous SNV K1100K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign 0.303 292997 chr16 4625877 4625877 C G C16orf96 Nonsynonymous SNV L466V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.963 292998 chr16 4626182 4626182 C T rs377530013 C16orf96 Synonymous SNV T567T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.434 292999 chr19 14830125 14830125 C T ZNF333 Synonymous SNV P431P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 293000 chr16 48139110 48139110 G A rs750264823 ABCC12 Synonymous SNV F871F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.01 293001 chr7 100675736 100675736 G A rs200732180 MUC17 Nonsynonymous SNV A347T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 293002 chr7 102669823 102669823 C T rs774439601 FBXL13 Nonsynonymous SNV G15R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 293003 chr7 105177097 105177097 A T rs756792338 RINT1 Synonymous SNV A58A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.868 293004 chr7 107592629 107592629 C G rs377317974 LAMB1 Nonsynonymous SNV C1040S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 293005 chr6 27278501 27278501 C T rs144638896 POM121L2 Synonymous SNV P483P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 293006 chr19 9075068 9075068 A T rs372653134 MUC16 Synonymous SNV T4126T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 293007 chr19 16989056 16989056 C T rs762666436 SIN3B Nonsynonymous SNV A596V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 293008 chr16 66436893 66436893 G A rs757793643 CDH5 Nonsynonymous SNV D726N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 293009 chr16 67839374 67839374 T C rs140783213 RANBP10 Nonsynonymous SNV I102V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.3 293010 chr7 121942339 121942339 A G FEZF1 Synonymous SNV A380A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.938 293011 chr19 17337641 17337641 G A rs769947475 OCEL1 Nonsynonymous SNV G70E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 293012 chr16 70507142 70507142 C T rs1048422186 FCSK Synonymous SNV L555L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 293013 chr19 11577048 11577048 T C rs759286535 ELAVL3 Nonsynonymous SNV N91S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.927 293014 chr19 17838795 17838795 C G rs139554039 MAP1S Nonsynonymous SNV R842G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 293015 chr6 36689623 36689623 C A RAB44 Nonsynonymous SNV T571K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 293016 chr7 16818657 16818657 G A rs376300445 TSPAN13 Synonymous SNV S152S 0.003 0 0 0 3 0 0 0 0 0 0 0 9.706 293017 chr19 23927660 23927660 C T rs754917001 ZNF681 Nonsynonymous SNV C231Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 293018 chr19 30934514 30934514 G A ZNF536 Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 293019 chr7 135300750 135300750 C T rs762143972 NUP205 Nonsynonymous SNV R775W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 293020 chr16 81396168 81396168 G A rs751149887 GAN Synonymous SNV K346K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.854 293021 chr6 43322514 43322514 C T rs150136881 ZNF318 Nonsynonymous SNV R853Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 293022 chr6 43746199 43746199 T A rs144663885 VEGFA Synonymous SNV I286I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 293023 chr19 33878972 33878972 C T rs377199331 PEPD Nonsynonymous SNV D349N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 293024 chr19 36523223 36523223 G A rs370585324 CLIP3 Nonsynonymous SNV P13S 0.002 0 0 0 2 0 0 0 0 0 0 0 20.3 293025 chr7 138764193 138764193 A G rs545622508 ZC3HAV1 Synonymous SNV L498L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.347 293026 chr19 16032869 16032869 G A rs142513893 CYP4F11 Nonsynonymous SNV R365C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 293027 chr7 40134136 40134136 C T rs373378960 CDK13 Nonsynonymous SNV R1366C 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 293028 chr7 142997096 142997096 G A rs373653048 CASP2 Synonymous SNV S245S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 293029 chr7 43832382 43832382 A C rs968544626 BLVRA Nonsynonymous SNV Q108P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.443 293030 chr7 14620498 14620498 C T rs536197059 DGKB Nonsynonymous SNV R515Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 293031 chr19 19646442 19646442 G C YJEFN3 Synonymous SNV T166T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 293032 chr19 19822486 19822486 T G ZNF14 Nonsynonymous SNV Q535P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 293033 chr6 72892633 72892633 G A rs200422266 RIMS1 Nonsynonymous SNV A487T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.99 293034 chr19 40929154 40929154 A G SERTAD1 Synonymous SNV A100A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.07 293035 chr17 12899293 12899293 G A ELAC2 Synonymous SNV G514G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.883 293036 chr19 21366611 21366612 AT - ZNF431 H503Qfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 293037 chr17 1399407 1399408 AG - rs745898635 INPP5K C413Lfs*30 0 0 0.003 0 0 0 0 1 0 0 0 0 293038 chr19 44418983 44418983 C T rs202107431 ZNF45 Nonsynonymous SNV R202H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 293039 chr7 150873201 150873201 A G ASB10 X430Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 293040 chr19 42776047 42776047 G A rs1015569369 CIC Nonsynonymous SNV D38N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 293041 chr19 33134255 33134255 A G rs368490549 ANKRD27 Nonsynonymous SNV Y215H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 293042 chr7 5410443 5410443 G A rs184931803 TNRC18 Nonsynonymous SNV P1261L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 293043 chr7 111540494 111540494 T G DOCK4 Nonsynonymous SNV K472N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 293044 chr19 44273909 44273909 C A rs968674510 KCNN4 Nonsynonymous SNV V298L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 293045 chr17 18111548 18111548 G A ALKBH5 Synonymous SNV E341E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.104 293046 chr19 44515485 44515485 C T rs376366730 ZNF230 Nonsynonymous SNV R432W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 293047 chr7 2472418 2472418 G T CHST12 Synonymous SNV P48P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 293048 chr19 45790812 45790812 G A rs549577494 MARK4 Nonsynonymous SNV A462T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.907 293049 chr19 36212593 36212593 T C KMT2B Nonsynonymous SNV S782P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.364 293050 chr7 2584678 2584678 - T rs776913277 BRAT1 Frameshift insertion L99Tfs*92 0.001 0 0 0 1 0 0 0 0 0 0 0 293051 chr7 2613101 2613101 C T rs777090079 IQCE Synonymous SNV D83D 0.002 0 0 0 2 0 0 0 0 0 0 0 13.88 293052 chr19 46119757 46119757 G A EML2 Stop gain Q375X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 293053 chr17 2279025 2279025 C T rs771193641 SGSM2 Synonymous SNV D735D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.543 293054 chr19 46341812 46341812 C T rs370869503 SYMPK Synonymous SNV S383S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 293055 chr17 26976228 26976228 C T SDF2 Nonsynonymous SNV G139R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 293056 chr7 29923982 29923982 C T rs779495355 WIPF3 Nonsynonymous SNV A291V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 293057 chr19 37680573 37680573 G A rs139404321 ZNF585B Synonymous SNV H94H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 293058 chr19 37853864 37853864 A G rs73930974 ZNF875 Synonymous SNV E329E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 293059 chr19 37966890 37966890 C T rs150343489 ZNF570 Synonymous SNV Y5Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.44 293060 chr19 38378822 38378822 A T rs146594275 WDR87 Nonsynonymous SNV M1830K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 293061 chr7 2472808 2472808 G A rs767981606 CHST12 Stop gain W178X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 293062 chr19 38380501 38380501 G A rs143655348 WDR87 Synonymous SNV G1270G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.118 293063 chr19 38573036 38573036 G A rs372078777 SIPA1L3 Synonymous SNV T277T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.141 293064 chr7 3991494 3991494 G A rs201120922 SDK1 Synonymous SNV A364A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.344 293065 chr19 41306666 41306666 C G rs371841299 EGLN2 Synonymous SNV T63T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.503 293066 chr17 36485943 36485943 C T rs531239274 GPR179 Nonsynonymous SNV R1170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 293067 chr19 39371781 39371781 - A SIRT2 Frameshift insertion G199Wfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 293068 chr19 42213659 42213659 C T rs782504876 CEACAM5 Nonsynonymous SNV P42L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 293069 chr19 50086495 50086495 C T rs752077985 PRRG2 Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 293070 chr19 42880809 42880809 G A rs546648359 MEGF8 Nonsynonymous SNV R2740Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 293071 chr19 40761136 40761136 G T rs757705378 AKT2 Synonymous SNV T10T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.48 293072 chr19 50093627 50093627 G A rs147569295 PRRG2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 293073 chr7 105668996 105668996 - A CDHR3 0.001 0 0 0 1 0 0 0 0 0 0 0 293074 chr19 42931132 42931132 G T rs776759877 LIPE Nonsynonymous SNV P57H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 293075 chr17 4166913 4166913 C T rs1044710128 ANKFY1 Nonsynonymous SNV R38Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.115 293076 chr19 46289369 46289373 AGGGT - DMWD T461Pfs*229 0.001 0 0 0 1 0 0 0 0 0 0 0 293077 chr19 46289376 46289392 GGGTGCGGGCCAGGGGG - rs751759784 DMWD P455Hfs*231 0.001 0 0 0 1 0 0 0 0 0 0 0 293078 chr7 129919410 129919410 G A rs531873384 CPA2 Nonsynonymous SNV V299I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 293079 chr19 52873226 52873226 G A rs772668915 ZNF880 Nonsynonymous SNV R3Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.71 293080 chr19 54496235 54496235 G T CACNG6 Nonsynonymous SNV R35L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.84 293081 chr7 73245781 73245781 G A rs376263596 CLDN4 Nonsynonymous SNV V84I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 293082 chr17 46691935 46691935 G T HOXB8 Nonsynonymous SNV S44R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 293083 chr17 47120855 47120855 C T rs142951853 IGF2BP1 Synonymous SNV S242S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 293084 chr7 138554315 138554315 C T rs200964689 KIAA1549 Nonsynonymous SNV V1582M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 293085 chr7 139107067 139107067 G A rs376180116 FMC1-LUC7L2, LUC7L2 Nonsynonymous SNV R387H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 293086 chr19 55592820 55592820 G C rs775513640 EPS8L1 Nonsynonymous SNV R118P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 293087 chr19 55593228 55593228 C A rs1620074 EPS8L1 Synonymous SNV R161R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 293088 chr19 55606944 55606944 G A rs35849605 PPP1R12C Nonsynonymous SNV R418C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 293089 chr19 49967389 49967389 G A rs746341939 ALDH16A1 Synonymous SNV P349P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 293090 chr19 50042382 50042382 C G RCN3 Nonsynonymous SNV L209V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 293091 chr19 55743552 55743552 G A rs371481678 PPP6R1 Synonymous SNV D672D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.741 293092 chr7 94293368 94293368 C G PEG10 Nonsynonymous SNV A167G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 293093 chr19 55703098 55703098 C T rs149782479 PTPRH Nonsynonymous SNV G579R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 293094 chr7 97822257 97822257 G A rs759325634 LMTK2 Nonsynonymous SNV R827H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.436 293095 chr19 51135568 51135568 C A rs201030888 SYT3 Nonsynonymous SNV V217F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 293096 chr7 98591357 98591357 A G rs769719515 TRRAP Synonymous SNV E3305E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.311 293097 chr7 99023071 99023071 G A rs150731740 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R362W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 293098 chr8 100443844 100443844 G A rs776213275 VPS13B Synonymous SNV K1054K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 293099 chr8 10468763 10468763 G A rs754126350 RP1L1 Nonsynonymous SNV P949S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 293100 chr8 123965811 123965811 C T rs776218842 ZHX2 Synonymous SNV T687T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 293101 chr7 73097965 73097965 C A BUD23 Nonsynonymous SNV R4S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 293102 chr8 139180199 139180199 G A rs552788793 FAM135B Synonymous SNV D399D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.849 293103 chr20 2796404 2796404 C G C20orf141 Nonsynonymous SNV L161V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 293104 chr17 73569624 73569624 G A LLGL2 Nonsynonymous SNV E930K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 293105 chr20 2397993 2397993 C T rs142748417 TGM6 Synonymous SNV D484D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 8.444 293106 chr20 3181054 3181054 C T rs145727372 DDRGK1 Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 293107 chr8 143746756 143746756 G A rs35436748 JRK Nonsynonymous SNV P241L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 293108 chr8 144464664 144464664 A G rs761896033 RHPN1 Nonsynonymous SNV H619R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 293109 chr20 6077561 6077561 C T rs34569233 FERMT1 Synonymous SNV A359A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 293110 chr20 8769119 8769119 C T rs577076166 PLCB1 Synonymous SNV V1045V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.73 293111 chr20 10639258 10639258 G T JAG1 Synonymous SNV R184R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.898 293112 chr20 13251264 13251264 G A rs376195260 ISM1 Synonymous SNV P84P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.23 293113 chr17 7721010 7721010 C T rs745973785 DNAH2 Synonymous SNV I3384I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 293114 chr17 78264372 78264372 G T rs112602766 RNF213 Synonymous SNV T372T 0 0 0.014 0 0 0 0 4 0 0 0 0 5.112 293115 chr20 17596586 17596586 C G rs11551704 RRBP1 Synonymous SNV T1312T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 293116 chr20 25469926 25469926 T A rs773806417 NINL Nonsynonymous SNV E544V 0.001 0 0 0 1 0 0 0 0 0 0 0 28 293117 chr19 57911222 57911222 A G rs377618513 ZNF548 Nonsynonymous SNV I523V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 293118 chr7 55249109 55249109 C T EGFR Nonsynonymous SNV R536W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 293119 chr19 58153212 58153212 A G rs750758832 ZNF211 Nonsynonymous SNV Y392C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 293120 chr20 31315903 31315903 G T rs753930455 COMMD7 Nonsynonymous SNV P43Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 293121 chr20 30408136 30408136 C T rs121908107 MYLK2 Nonsynonymous SNV A87V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.61 293122 chr17 8076849 8076849 T G rs755495846 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 293123 chr17 80890606 80890606 G A rs376985308 TBCD Synonymous SNV E1062E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 293124 chr20 33875302 33875302 G A rs753747505 FAM83C Nonsynonymous SNV P427L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 293125 chr8 21955674 21955674 T C rs185486017 FAM160B2 Synonymous SNV D207D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.048 293126 chr8 22136934 22136934 C - PIWIL2 S12Ffs*77 0.001 0 0 0 1 0 0 0 0 0 0 0 293127 chr8 22136936 22136936 C T PIWIL2 Nonsynonymous SNV P13S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 293128 chr20 36989357 36989357 G T rs140824493 LBP 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 293129 chr20 37356691 37356691 T C rs149484887 SLC32A1 Synonymous SNV N329N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 293130 chr20 1106258 1106258 A G rs746554665 PSMF1 Nonsynonymous SNV I83V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.377 293131 chr20 34268713 34268713 C A NFS1 Nonsynonymous SNV D195Y 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 293132 chr18 10803927 10803927 C T rs763345529 PIEZO2 Synonymous SNV A382A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 293133 chr18 11689751 11689751 C T GNAL Synonymous SNV C63C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 293134 chr20 1592019 1592019 G A rs45482592 SIRPB1 Synonymous SNV T139T 0.002 0 0 0 2 0 0 0 1 0 0 0 4.244 293135 chr20 43133467 43133467 G C rs374880541 SERINC3 Synonymous SNV T283T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 293136 chr20 41400114 41400114 A T rs147839711 PTPRT Synonymous SNV A215A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.682 293137 chr20 2517918 2517918 G A rs141505256 TMC2 Nonsynonymous SNV R13Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 293138 chr20 2083461 2083461 G A rs781482983 STK35 Synonymous SNV R114R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 293139 chr18 28934640 28934640 C T rs141759043 DSG1 Synonymous SNV L827L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.716 293140 chr8 27462662 27462662 G A rs41276297 CLU Nonsynonymous SNV T203I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.589 293141 chr20 44574885 44574885 C T PCIF1 Nonsynonymous SNV S492L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 293142 chr18 42643045 42643045 C T SETBP1 Synonymous SNV V1391V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.009 293143 chr18 44392401 44392401 C T rs776146952 PIAS2 Nonsynonymous SNV D622N 0 0 0.003 0 0 0 0 1 0 0 0 0 28 293144 chr8 54900779 54900779 T C rs371306322 TCEA1 Nonsynonymous SNV N100D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 293145 chr8 61764730 61764730 C T rs752539596 CHD7 Nonsynonymous SNV R1940C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 293146 chr20 60504723 60504723 G A rs781192006 CDH4 Nonsynonymous SNV V651I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.23 293147 chr8 68992739 68992739 A G PREX2 Synonymous SNV E568E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.127 293148 chr8 71060576 71060576 A T NCOA2 Nonsynonymous SNV L692H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 293149 chr8 104778659 104778659 G A rs368043544 RIMS2 Nonsynonymous SNV V198I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 293150 chr18 60036565 60036565 G C rs142274946 TNFRSF11A Nonsynonymous SNV C458S 0 0 0.003 0 0 0 0 1 0 0 0 0 22 293151 chr20 62187918 62187918 C G FNDC11 Nonsynonymous SNV T301S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 293152 chr8 110590150 110590150 T C rs760663892 SYBU Synonymous SNV T147T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.844 293153 chr20 61951532 61951532 C T rs200235715 COL20A1 Nonsynonymous SNV R1020W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 293154 chr20 62608632 62608632 C T rs199532147 SAMD10 Synonymous SNV A73A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 293155 chr18 66354955 66354955 G C TMX3 Nonsynonymous SNV Q88E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.773 293156 chr20 62178636 62178636 C T rs143145993 SRMS Nonsynonymous SNV D61N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 293157 chr21 17238604 17238604 G A rs374577248 USP25 Nonsynonymous SNV V625I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 293158 chr18 67718782 67718782 T C RTTN Nonsynonymous SNV K818E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.801 293159 chr18 67843929 67843929 C T rs115686638 RTTN Synonymous SNV T486T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.46 293160 chr20 36572456 36572456 C T rs139749355 VSTM2L Nonsynonymous SNV T139I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 293161 chr20 40710553 40710553 C T rs778726076 PTPRT Nonsynonymous SNV R1414H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 293162 chr20 42198148 42198148 G T rs372059009 SGK2 Nonsynonymous SNV G178W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 293163 chr20 43090803 43090803 T C rs551830536 LINC01620 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 293164 chr21 37785604 37785604 C T CHAF1B Nonsynonymous SNV T495I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 293165 chr20 47691971 47691971 G A rs754442648 CSE1L Nonsynonymous SNV A361T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 293166 chr21 41668001 41668001 G A rs372883195 DSCAM Synonymous SNV I721I 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 15.55 293167 chr20 48140725 48140725 G A rs141132754 PTGIS Nonsynonymous SNV S242F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 293168 chr19 11240322 11240322 C G rs753716119 LDLR Nonsynonymous SNV N673K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 293169 chr19 13067811 13067811 G A rs200483443 GADD45GIP1 Synonymous SNV P72P 0 0 0.007 0 0 0 0 2 0 0 0 0 12 293170 chr19 14037513 14037513 G A rs201251295 CC2D1A Nonsynonymous SNV R683Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 293171 chr21 45209589 45209589 C A RRP1 Synonymous SNV R27R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 293172 chr9 116812126 116812126 C T rs370925936 ZNF618 Synonymous SNV P815P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.732 293173 chr19 14267883 14267883 G A rs747873425 ADGRL1 Synonymous SNV G940G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 293174 chr20 60508087 60508087 G A CDH4 Nonsynonymous SNV E725K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 293175 chr9 116854854 116854854 G A rs140779223 KIF12 Synonymous SNV C417C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.378 293176 chr20 57042655 57042655 C T rs7265902 APCDD1L Nonsynonymous SNV R83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 293177 chr20 60885745 60885745 G A rs769234411 LAMA5 Synonymous SNV A3474A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.707 293178 chr21 45675974 45675974 A T rs199990417 DNMT3L Nonsynonymous SNV S194T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.024 293179 chr20 60902979 60902979 G A rs770067330 LAMA5 Synonymous SNV H1580H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.247 293180 chr19 14952523 14952523 T G OR7A10 Nonsynonymous SNV H56P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 293181 chr21 46271284 46271284 A G rs774351577 PTTG1IP X143Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.322 293182 chr19 15302941 15302941 T C rs147373451 NOTCH3 Nonsynonymous SNV H170R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23.8 293183 chr19 15491076 15491076 C T AKAP8L Nonsynonymous SNV V539M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 293184 chr9 121929408 121929408 G A rs772295899 BRINP1 Nonsynonymous SNV T747M 0.001 0 0 0 1 0 0 0 0 0 0 0 28 293185 chr19 15760726 15760726 G A rs200161271 CYP4F3 Synonymous SNV K217K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 293186 chr21 47845864 47845864 G A rs376200003 PCNT Synonymous SNV S2315S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.633 293187 chr21 45542145 45542145 C T rs200924668 LOC102724159, PWP2 Nonsynonymous SNV A575V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 293188 chr22 17690430 17690430 C A rs7289141 ADA2 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 293189 chr22 18029149 18029149 G A rs555429495 CECR2 Nonsynonymous SNV R1227H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 293190 chr20 62493794 62493794 C T ABHD16B Nonsynonymous SNV L301F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 293191 chr19 17316894 17316894 C T rs199796150 MYO9B Synonymous SNV T1730T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.79 293192 chr22 22318366 22318366 G A rs767547451 TOP3B Nonsynonymous SNV P378L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 293193 chr22 23523681 23523681 G A rs1001017344 BCR Synonymous SNV V178V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.213 293194 chr8 24772381 24772381 T C NEFM Nonsynonymous SNV Y359H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 293195 chr21 34926547 34926549 TAA - rs746952392 SON N1673del 0.001 0 0 0 1 0 0 0 0 0 0 0 293196 chr19 18507170 18507170 T C rs778458323 LRRC25 Nonsynonymous SNV N202D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 293197 chr8 25253123 25253123 A G rs781626411 DOCK5 Nonsynonymous SNV N1531S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 293198 chr9 131821526 131821526 G A rs201510010 MIGA2 Nonsynonymous SNV A257T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.312 293199 chr21 38117197 38117197 C T SIM2 Nonsynonymous SNV H446Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 293200 chr19 19758448 19758448 G A rs371931595 ATP13A1 Nonsynonymous SNV S918L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 293201 chr8 99101836 99101836 G A rs148265013 ERICH5 Synonymous SNV L197L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.496 293202 chr19 2252525 2252525 G A rs150577817 JSRP1 Nonsynonymous SNV P267S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 293203 chr21 42780029 42780029 A G MX2 Nonsynonymous SNV N673D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 293204 chr19 2416752 2416752 C A TMPRSS9 Nonsynonymous SNV F620L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 293205 chr19 2807675 2807675 G A THOP1 Synonymous SNV Q374Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.675 293206 chr8 38809763 38809763 C T rs772580510 PLEKHA2 Nonsynonymous SNV S189L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 293207 chr21 44474003 44474003 C T rs150828989 CBS, CBSL Nonsynonymous SNV R443Q 0.003 0 0 0 4 0 0 0 0 0 0 0 Benign/Likely benign 12.33 293208 chr8 41559134 41559134 T G rs200082332 ANK1 Nonsynonymous SNV S799R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 293209 chr21 45483481 45483481 C T TRAPPC10 Stop gain R285X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 293210 chr9 111625241 111625241 C T rs757273596 ACTL7A Synonymous SNV S213S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.29 293211 chr19 34843616 34843616 C T rs137912455 KIAA0355 Nonsynonymous SNV T990M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.3 293212 chr19 3551169 3551169 A G MFSD12 Nonsynonymous SNV F99L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 293213 chr19 35514239 35514239 G A rs774520840 GRAMD1A Synonymous SNV L640L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.977 293214 chr22 36689498 36689498 C T MYH9 Synonymous SNV K1324K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.39 293215 chr19 36108217 36108217 G A rs751363111 HAUS5 Nonsynonymous SNV R195Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 293216 chr8 68128828 68128828 T C rs147611619 ARFGEF1 Synonymous SNV P1561P 0.002 0 0 0 2 0 0 0 0 0 0 0 9.861 293217 chr22 35661504 35661504 C T rs770057050 HMGXB4 Nonsynonymous SNV P266S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.559 293218 chr22 38511585 38511585 C T rs150572286 PLA2G6 Synonymous SNV T607T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.79 293219 chr22 17579776 17579776 G A rs746193437 IL17RA Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 293220 chr22 39222512 39222512 T C rs147434453 NPTXR Nonsynonymous SNV N364S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 293221 chr22 17619556 17619556 G A rs374314128 HDHD5 Synonymous SNV Y243Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 293222 chr22 39414382 39414382 G T rs112120857 APOBEC3C Nonsynonymous SNV S188I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 293223 chr22 39483102 39483102 C T rs11545130 APOBEC3G Synonymous SNV L304L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.382 293224 chr22 18314644 18314644 C T rs376048597 MICAL3 Nonsynonymous SNV E1011K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 293225 chr8 8749723 8749723 G A rs995317299 MFHAS1 Synonymous SNV S282S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.447 293226 chr22 39832351 39832351 C T rs17001124 LOC100506472 0.001 0 0 0 1 0 0 0 0 0 0 0 3.698 293227 chr9 140938164 140938164 G C LOC101928786 0.001 0 0 0 1 0 0 0 0 0 0 0 0.609 293228 chr22 42339675 42339675 C T rs145909734 CENPM Nonsynonymous SNV R80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 293229 chr8 96047788 96047788 C T rs763634041 NDUFAF6 Nonsynonymous SNV A24V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 293230 chr19 39799063 39799063 A G rs761391871 LRFN1 Nonsynonymous SNV V509A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 293231 chr22 44553878 44553878 A G PARVB Nonsynonymous SNV Y212C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 293232 chr22 23631721 23631721 C T BCR Synonymous SNV L874L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 293233 chr22 45726520 45726520 G A rs546374745 FAM118A Nonsynonymous SNV V113I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 293234 chr22 46794520 46794520 G A rs201170657 CELSR1 Synonymous SNV I1809I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 293235 chr22 25130049 25130049 A G rs759242203 PIWIL3 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 293236 chr19 42866331 42866331 G A rs745553573 MEGF8 Nonsynonymous SNV R1870H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 293237 chr19 43097884 43097884 C T rs371559320 CEACAM8 Nonsynonymous SNV R78Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.514 293238 chr22 50303602 50303602 G A rs547640376 ALG12 Stop gain R202X 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 293239 chrX 151376590 151376590 A G GABRA3 Nonsynonymous SNV Y221H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.8 293240 chr22 50943007 50943007 C T rs539813504 LMF2 Synonymous SNV L504L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.58 293241 chr22 50636544 50636544 C T rs201079831 TRABD Synonymous SNV V299V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 293242 chr22 50845151 50845151 T C rs201294162 PPP6R2 Synonymous SNV C87C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.604 293243 chr22 50893109 50893109 C T rs749154070 SBF1 Synonymous SNV T1600T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 293244 chr22 30921379 30921379 C G rs751086784 SEC14L6 Nonsynonymous SNV V347L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 293245 chr9 74825614 74825614 A G rs148805997 GDA Synonymous SNV L132L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.957 293246 chrX 19373556 19373556 G A rs138237215 PDHA1 Synonymous SNV T200T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.02 293247 chrX 28807496 28807496 C T rs148060509 IL1RAPL1 Synonymous SNV Y12Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.09 293248 chr9 80916890 80916890 G C PSAT1 Nonsynonymous SNV D48H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 293249 chr22 35480395 35480395 G A rs144899858 ISX Nonsynonymous SNV R134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 293250 chr9 12775894 12775894 C T rs75227666 LURAP1L Synonymous SNV S60S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 293251 chr19 48342875 48342875 C T rs147558800 CRX Nonsynonymous SNV P184L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.79 293252 chr22 37420688 37420688 - A MPST Frameshift insertion G145Rfs*57 0.001 0 0 0 1 0 0 0 0 0 0 0 293253 chr22 38483198 38483198 G A rs200410419 BAIAP2L2 Nonsynonymous SNV P398S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.458 293254 chr22 38536030 38536030 G A rs771809118 PLA2G6 Synonymous SNV N252N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.185 293255 chrX 49114002 49114002 G A rs143632471 FOXP3 Synonymous SNV H77H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.108 293256 chrX 54780131 54780131 T C rs765559049 ITIH6 Nonsynonymous SNV N1102S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 293257 chr19 49385364 49385364 C T rs546074886 TULP2 Nonsynonymous SNV V458I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 293258 chr9 97209131 97209131 T C rs146616123 MFSD14B Synonymous SNV S252S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.094 293259 chr9 97329582 97329582 A G rs111617337 FBP2 Synonymous SNV T225T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.938 293260 chrX 55035733 55035733 C A rs773629116 ALAS2 Nonsynonymous SNV Q511H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.444 293261 chr9 97563076 97563076 C T rs34557833 AOPEP Nonsynonymous SNV R386C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 293262 chrX 63411487 63411487 C A AMER1 Synonymous SNV R560R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.776 293263 chr9 131708133 131708133 T C rs147630977 DOLK Nonsynonymous SNV I484V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.856 293264 chrX 65479948 65479948 G A rs777968202 HEPH Nonsynonymous SNV E715K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 293265 chrX 66765162 66765170 GCAGCAGCA - AR Q78_Q80del 0.001 0 0 0 1 0 0 0 0 0 0 0 293266 chr9 131890323 131890323 C T rs140799844 PTPA Synonymous SNV R99R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.249 293267 chrX 69455955 69455955 T C AWAT1 Nonsynonymous SNV V74A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 293268 chrX 70823595 70823595 G A rs766581591 GCNA Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.356 293269 chrX 102318041 102318041 G A rs374272158 BEX1 Synonymous SNV R54R 0.002 0 0 0 2 0 0 0 1 0 0 0 15.28 293270 chrX 105075111 105075111 T C NRK Nonsynonymous SNV L41S 0.002 0 0 0 2 0 0 0 1 0 0 0 22.8 293271 chrX 74293709 74293709 C T rs147584361 ABCB7 Nonsynonymous SNV R273Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.27 293272 chrX 110987953 110987953 - ACCACCACCACC ALG13 P945_A946insPPPP 0.002 0 0 0 2 0 0 0 1 0 0 0 293273 chrX 111019883 111019883 A G rs375406316 TRPC5 Synonymous SNV S860S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.272 293274 chrX 86069728 86069728 C T rs776273955 DACH2 Synonymous SNV T512T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.27 293275 chr22 43287027 43287027 C T rs775794255 PACSIN2 Nonsynonymous SNV G86S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 293276 chr22 46722489 46722489 C T rs777163402 GTSE1 Synonymous SNV G554G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.337 293277 chrX 101152980 101152980 A G rs141058940 ZMAT1 Synonymous SNV F122F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.329 293278 chrX 107414061 107414061 C T rs759386597 COL4A6 Nonsynonymous SNV V1122I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 293279 chr19 52447677 52447677 G T rs146805022 ZNF613 Nonsynonymous SNV G181C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 293280 chrX 128674786 128674786 G A rs142321728 OCRL Synonymous SNV R35R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.7 293281 chr22 50665497 50665497 G A rs780853086 TUBGCP6 Synonymous SNV A474A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 293282 chr22 50018119 50018119 G A C22orf34 Synonymous SNV L114L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 293283 chr9 139350096 139350096 C T rs755640318 SEC16A Synonymous SNV P1938P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 293284 chrX 19817779 19817779 G C rs138422588 SH3KBP1 Synonymous SNV A8A 0.002 0 0 0 2 0 0 0 1 0 0 0 12.09 293285 chrX 19391723 19391723 G A MAP3K15 Nonsynonymous SNV S955F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 293286 chr19 54544286 54544286 G - rs763100953 VSTM1 L94Cfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 293287 chrX 150839569 150839571 GAA - rs746146482 PASD1 K379del 0.002 0 0 0 2 0 0 0 0 0 0 0 293288 chr9 140129174 140129174 C A rs144275345 SLC34A3 Nonsynonymous SNV S442R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 293289 chrX 46360579 46360582 ATGA - rs774812221 ZNF674 S148Gfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 293290 chr1 982315 982315 C T rs374090990 AGRN Synonymous SNV D1122D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.24 293291 chr9 17135276 17135276 G T rs200731719 CNTLN Synonymous SNV G71G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.973 293292 chr1 1153080 1153080 C T rs201719242 SDF4 Synonymous SNV P339P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.117 293293 chr1 1849509 1849509 G T TMEM52 Nonsynonymous SNV L148M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 293294 chr1 1341200 1341200 T A rs773277952 MRPL20 Nonsynonymous SNV N89Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 293295 chr1 1551987 1551987 C G rs200838431 MIB2 Nonsynonymous SNV P35A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 293296 chrX 70389620 70389620 C T rs138181564 NLGN3 Synonymous SNV P700P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.825 293297 chrX 50653921 50653921 G A rs782518587 BMP15 Synonymous SNV E46E 0.003 0 0 0 3 0 0 0 1 0 0 0 0.091 293298 chr1 3322124 3322124 C T rs764582197 PRDM16 Synonymous SNV H366H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.81 293299 chrX 77041482 77041482 G A ATRX Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.36 293300 chr9 84248278 84248278 G C TLE1 Nonsynonymous SNV D203E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.119 293301 chr1 2938931 2938931 C A rs187085397 ACTRT2 Synonymous SNV P227P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.665 293302 chrX 75004134 75004134 G C MAGEE2 Nonsynonymous SNV F251L 0.002 0 0 0 2 0 0 0 1 0 0 0 23 293303 chrX 115304468 115304468 G T AGTR2 Nonsynonymous SNV C312F 0.001 0 0 0 1 0 0 0 0 0 0 0 25 293304 chrX 111698529 111698529 C G rs145099307 RTL4 Synonymous SNV P191P 0.002 0 0 0 2 0 0 0 1 0 0 0 1.209 293305 chrX 112059030 112059030 A G rs143986904 AMOT Synonymous SNV S316S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 5.461 293306 chrX 124454043 124454043 C A TEX13C Synonymous SNV V25V 0.002 0 0 0 2 0 0 0 1 0 0 0 6.859 293307 chr1 8526034 8526034 T C rs745398302 RERE Nonsynonymous SNV K385R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 293308 chr9 72790798 72790798 C T rs189145269 MAMDC2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 293309 chr1 9324078 9324078 G A rs142705829 H6PD Nonsynonymous SNV R520H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.378 293310 chrX 140994094 140994094 C T rs759698434 MAGEC1 Nonsynonymous SNV P302S 0.002 0 0 0 2 0 0 0 1 0 0 0 22.7 293311 chrX 152807836 152807836 C T rs201197657 ATP2B3 Synonymous SNV D240D 0.002 0 0 0 2 0 0 0 1 0 0 0 13.99 293312 chrX 154290218 154290218 C T rs181813855 CMC4 Nonsynonymous SNV R36H 0.002 0 0 0 2 0 0 0 1 0 0 0 33 293313 chr1 12064583 12064583 C T MFN2 Synonymous SNV A435A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 293314 chr19 8808378 8808378 C - ACTL9 G225Afs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 293315 chr1 17594361 17594361 C T rs138903580 PADI3 Nonsynonymous SNV R186W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 293316 chr19 9047858 9047858 C A rs763878146 MUC16 Nonsynonymous SNV G11258V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.451 293317 chrX 100240810 100240810 C T rs200518144 ARL13A Synonymous SNV V95V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 293318 chr1 1153938 1153938 C A rs775622103 SDF4 Nonsynonymous SNV G271V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 293319 chr1 1238586 1238586 C T rs773200216 ACAP3 Nonsynonymous SNV V61I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.829 293320 chr1 19484318 19484318 C T rs372867016 UBR4 Synonymous SNV E1917E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 293321 chrX 104464066 104464066 G A TEX13A Synonymous SNV V270V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.281 293322 chr1 1696887 1696891 TTAAT - rs755451215 NADK 0 0 0 1 0 0 0.003 0 0 0 0 0 293323 chrX 108641778 108641778 C G GUCY2F Nonsynonymous SNV E759Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 293324 chr1 1959595 1959595 C T rs201112862 GABRD Synonymous SNV Y185Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.254 293325 chr19 9452454 9452454 C G ZNF559 Nonsynonymous SNV H173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 293326 chrX 110980097 110980097 C T rs374572450 ALG13 Synonymous SNV H733H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 293327 chr19 9643598 9643598 C T rs748805058 ZNF426 Nonsynonymous SNV G45D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 293328 chr10 106075621 106075621 C A ITPRIP Synonymous SNV A63A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.943 293329 chr10 112269812 112269812 C A DUSP5 Synonymous SNV V261V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 293330 chrX 118222233 118222233 C T rs199797362 KIAA1210 Nonsynonymous SNV C987Y 0.003 0 0 0 3 0 0 0 1 0 0 0 3.678 293331 chrX 53230805 53230805 G A KDM5C Nonsynonymous SNV A596V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 293332 chr1 10075840 10075840 G C rs928440289 RBP7 Nonsynonymous SNV E119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 293333 chrX 123468102 123468102 C T rs112353537 TEX13D Synonymous SNV V445V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.247 293334 chr1 22214024 22214024 G A rs776665298 HSPG2 Synonymous SNV L283L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.14 293335 chr1 3753113 3753113 G A rs781525757 CEP104 Synonymous SNV T421T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.934 293336 chr10 116730147 116730147 A G TRUB1 Nonsynonymous SNV I182V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.535 293337 chr1 109804225 109804225 G T CELSR2 Nonsynonymous SNV E1424D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 293338 chr1 109805791 109805791 A T rs139406620 CELSR2 Nonsynonymous SNV D1579V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 18.7 293339 chr1 111857201 111857201 G A rs147282128 CHIA Stop gain W99X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 293340 chr1 10318582 10318582 G A rs761343609 KIF1B Nonsynonymous SNV R72H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.5 293341 chr1 27176902 27176902 G A rs143112970 ZDHHC18 Nonsynonymous SNV A253T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 293342 chrX 153032531 153032531 C T rs143277711 PLXNB3 Synonymous SNV L83L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 293343 chr1 27589708 27589708 C A rs368577351 WDTC1 Synonymous SNV G38G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 293344 chr1 11591694 11591694 C T rs751589981 DISP3 Nonsynonymous SNV P1101L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 293345 chr10 124713684 124713684 C T rs775693796 C10orf88 Nonsynonymous SNV R4Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.691 293346 chrX 153418491 153418491 G T rs184047537 OPN1LW Nonsynonymous SNV R163I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 293347 chr10 125639770 125639770 G A rs149844796 CPXM2 Synonymous SNV N120N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.827 293348 chr1 118537091 118537091 C T SPAG17 Nonsynonymous SNV E1706K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 293349 chrX 21863472 21863472 G A rs148895141 MBTPS2 Synonymous SNV S136S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.06 293350 chr1 32100852 32100852 C T PEF1 Nonsynonymous SNV G29D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 293351 chr10 13251122 13251122 G A rs533444195 MCM10 Nonsynonymous SNV G844R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 293352 chr1 35370835 35370835 C T rs543185873 DLGAP3 Synonymous SNV P50P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 293353 chr10 134037915 134037915 C T rs202010879 STK32C Nonsynonymous SNV R343Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 293354 chr1 32951003 32951003 G A ZBTB8B Nonsynonymous SNV R491Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.78 293355 chr1 39784266 39784266 G A rs150560748 MACF1 Synonymous SNV S1313S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.963 293356 chr10 134674342 134674342 T C rs1042101237 CFAP46 Nonsynonymous SNV T1679A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.333 293357 chr1 150526393 150526393 G A rs76075180 ADAMTSL4 Nonsynonymous SNV R309Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.74 293358 chr10 135027533 135027533 C T rs371312657 KNDC1 Synonymous SNV Y1528Y 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 293359 chrX 50377340 50377340 G C rs781983542 SHROOM4 Nonsynonymous SNV S578W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 293360 chr10 13629147 13629147 C T rs765625085 PRPF18 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 293361 chr10 15151739 15151739 G A NMT2 Synonymous SNV L480L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.418 293362 chr1 41236263 41236263 C T rs765905638 NFYC Synonymous SNV D380D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.56 293363 chrX 69670612 69670612 G A DLG3 Nonsynonymous SNV A322T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 293364 chr1 154243375 154243375 G A UBAP2L Nonsynonymous SNV D1073N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 293365 chr10 21102885 21102885 G A rs752922937 NEBL Stop gain Q777X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 46 293366 chr10 21157612 21157612 G A NEBL Nonsynonymous SNV A222V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 293367 chr10 21157613 21157613 C T NEBL Nonsynonymous SNV A222T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 293368 chrX 71812970 71812970 C T PHKA1 Stop gain W1004X 0.001 0 0 0 1 0 0 0 0 0 0 0 52 293369 chr1 44463355 44463355 G A SLC6A9 Synonymous SNV H523H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.373 293370 chrX 77270204 77270204 A G rs201788154 ATP7A Nonsynonymous SNV T740A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 21.6 293371 chrX 78427210 78427210 G T rs375231404 GPR174 Nonsynonymous SNV A236S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 293372 chr10 126716172 126716172 G A rs150867595 CTBP2 Nonsynonymous SNV P53S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 293373 chr1 22178375 22178375 A G rs1007421660 HSPG2 Synonymous SNV D2306D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.083 293374 chr1 15616135 15616135 G A rs528126615 FHAD1 Nonsynonymous SNV A181T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.45 293375 chr1 45221802 45221802 G A rs751925624 KIF2C Synonymous SNV L249L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.618 293376 chr1 23236987 23236987 A G rs1040639398 EPHB2 Nonsynonymous SNV K814R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.34 293377 chr1 47716836 47716836 C T rs372680224 STIL Nonsynonymous SNV R1280H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 293378 chr1 52881018 52881018 C T rs775170207 PRPF38A Nonsynonymous SNV R286C 0 0 0 1 0 0 0.003 0 0 0 0 0 30 293379 chr1 44069367 44069367 C T rs374615511 PTPRF Synonymous SNV G839G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.41 293380 chr10 99968077 99968077 G A rs373657280 R3HCC1L Nonsynonymous SNV R69Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 293381 chr10 105164845 105164845 G C rs61756019 PDCD11 Nonsynonymous SNV G157R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.512 293382 chr10 44053066 44053066 G A rs186712998 ZNF239 Synonymous SNV C154C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.286 293383 chr1 46733275 46733275 A G RAD54L Nonsynonymous SNV I166V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 293384 chr1 53736706 53736706 C A rs151217475 LRP8 Nonsynonymous SNV A246S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 293385 chr10 1130462 1130462 C T rs757758502 WDR37 Synonymous SNV L172L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 293386 chr1 29642614 29642614 T G rs141267043 PTPRU Nonsynonymous SNV I1152S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 293387 chr1 31905834 31905834 G A rs146836894 SERINC2 Nonsynonymous SNV R349Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 293388 chr1 38265325 38265325 C T rs778967847 MANEAL Nonsynonymous SNV T53M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 293389 chr10 123844365 123844365 G A rs759190818 TACC2 Nonsynonymous SNV G784R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 293390 chr1 175048655 175048655 A C rs759741041 TNN Nonsynonymous SNV Y199S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.531 293391 chr1 175048657 175048657 C T rs765430450 TNN Nonsynonymous SNV P200S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 293392 chr10 123970523 123970523 C T rs371355623 TACC2 Nonsynonymous SNV P273S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 293393 chr1 78325027 78325027 A C MIGA1 Nonsynonymous SNV S382R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.81 293394 chr1 85559205 85559205 G A rs138379333 WDR63 Nonsynonymous SNV A269T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 24.2 293395 chr1 17945869 17945869 G A rs755093123 ARHGEF10L Nonsynonymous SNV V69I 0 0 0.007 0 0 0 0 2 0 0 0 0 23 293396 chr1 87036828 87036828 C T rs180818393 CLCA4 Synonymous SNV N417N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.127 293397 chr1 87185284 87185284 T G SH3GLB1 Nonsynonymous SNV D3E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.51 293398 chr1 180063153 180063153 A G rs900206025 CEP350 Nonsynonymous SNV D2638G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.262 293399 chr1 43224873 43224873 T C rs750943926 P3H1 Synonymous SNV T269T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.99 293400 chr1 43233051 43233051 A C rs56073841 C1orf50 Synonymous SNV A23A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.747 293401 chr1 43263780 43263780 C G rs549821720 TMEM269 Nonsynonymous SNV L208V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.6 293402 chr1 79002336 79002336 T A rs375467612 PTGFR Synonymous SNV S348S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 5.722 293403 chr1 182922103 182922103 G A SHCBP1L Nonsynonymous SNV P56S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 293404 chr1 44413280 44413280 G A IPO13 Nonsynonymous SNV R3Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 293405 chr10 72195576 72195576 G A rs77151171 NODAL Synonymous SNV P119P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.422 293406 chr1 183200153 183200153 G C rs747903961 LAMC2 Nonsynonymous SNV C591S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 293407 chr1 186057085 186057085 G A HMCN1 Nonsynonymous SNV V3129I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 293408 chr1 98039426 98039426 C T rs199646142 DPYD Nonsynonymous SNV R410Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 293409 chr1 51613405 51613405 G C rs759157234 C1orf185 Nonsynonymous SNV E188Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 293410 chr1 19439026 19439026 G T rs61996286 UBR4 Synonymous SNV L3931L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.807 293411 chr1 19477196 19477196 C T rs34498972 UBR4 Synonymous SNV E2435E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.58 293412 chr1 19570146 19570146 G A rs6661253 EMC1 Synonymous SNV I92I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 293413 chr1 19653753 19653753 C T rs111669548 SLC66A1 Synonymous SNV Y217Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.727 293414 chr1 19653764 19653764 C T SLC66A1 Nonsynonymous SNV A221V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 293415 chr10 73115915 73115915 G A rs147701543 SLC29A3 Nonsynonymous SNV A230T 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Uncertain significance 17.66 293416 chr1 197128828 197128828 C A rs376633171 ZBTB41 Synonymous SNV T797T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 293417 chr1 197313482 197313482 G A rs987149136 CRB1 Nonsynonymous SNV A242T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 293418 chr10 17157559 17157559 C T rs771365441 CUBN Nonsynonymous SNV A211T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 293419 chr1 55224573 55224573 A G rs746012936 PARS2 Nonsynonymous SNV Y88H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 293420 chr1 200635358 200635358 G A rs149530427 DDX59 Nonsynonymous SNV H171Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 293421 chr1 20082247 20082247 G C rs74058627 TMCO4 Nonsynonymous SNV A132G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 293422 chr11 118416857 118416857 G A rs75141008 TMEM25 Nonsynonymous SNV A306T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.59 293423 chr10 22898631 22898631 G A PIP4K2A Nonsynonymous SNV H54Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 293424 chr10 77161112 77161112 - CCG rs760375543 ZNF503 G27_A28insG 0.003 0.003 0 0 3 1 0 0 0 0 0 0 293425 chr10 88696724 88696724 C T rs371372922 MMRN2 Nonsynonymous SNV V876I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.357 293426 chr1 111494142 111494142 G T rs370219260 LRIF1 Nonsynonymous SNV T455K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.76 293427 chr1 201181502 201181502 A C rs772963834 IGFN1 Nonsynonymous SNV Q2494P 0 0 0.003 0 0 0 0 1 0 0 0 0 22 293428 chr10 27324450 27324450 G A rs766543259 ANKRD26 Nonsynonymous SNV R976W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 293429 chr1 20141259 20141259 T C rs34693363 RNF186 Synonymous SNV P112P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.02 293430 chr1 109556490 109556490 C G rs746393621 WDR47 Synonymous SNV A100A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.21 293431 chr10 85991808 85991808 C T rs145262340 LRIT1 Nonsynonymous SNV G583S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.33 293432 chr1 113062980 113062980 G A WNT2B Nonsynonymous SNV R250Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 293433 chr1 116929972 116929972 C G rs756472989 ATP1A1 Synonymous SNV P82P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 293434 chr10 31137722 31137722 G A rs201579158 ZNF438 Nonsynonymous SNV R538W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 293435 chr1 205277807 205277807 C T rs767982138 NUAK2 Nonsynonymous SNV D136N 0 0 0.003 0 0 0 0 1 0 0 0 0 35 293436 chr10 99133398 99133398 G A rs142957313 RRP12 Nonsynonymous SNV R554C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 293437 chr10 99509282 99509282 C T rs555148741 ZFYVE27 Synonymous SNV L83L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 293438 chr1 120054247 120054247 C T rs757262979 HSD3B1 Synonymous SNV F89F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.457 293439 chr1 151107772 151107772 G A rs150793383 SEMA6C Nonsynonymous SNV R443W 0.001 0 0 0 1 0 0 0 0 0 0 0 29 293440 chr10 49667833 49667833 C G rs141575110 ARHGAP22 Nonsynonymous SNV E95Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.1 293441 chr10 49944035 49944035 G A WDFY4 Nonsynonymous SNV E600K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 293442 chr1 153004960 153004983 GAGCCCTGCCACCCCAAAGTGCCC - SPRR1B H50_C57del 0.001 0 0 0 1 0 0 0 0 0 0 0 293443 chr1 22175439 22175439 G A rs62642518 HSPG2 Nonsynonymous SNV T2512I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 18.66 293444 chr1 22175462 22175462 G A rs62642515 HSPG2 Synonymous SNV C2504C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.519 293445 chr1 22178162 22178162 G A rs2229484 HSPG2 Synonymous SNV I2346I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.139 293446 chr1 22182128 22182128 G A rs62642522 HSPG2 Synonymous SNV H1915H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.373 293447 chr1 153905732 153905732 G A rs778415504 DENND4B Nonsynonymous SNV R1143C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 293448 chr1 156107548 156107548 G A rs200917748 LMNA Nonsynonymous SNV R571H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 16.73 293449 chr10 68040289 68040289 T A rs138314889 CTNNA3 Nonsynonymous SNV D608V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.4 293450 chr1 153270461 153270461 T G rs138438992 PGLYRP3 Nonsynonymous SNV I333L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.3 293451 chr1 226034775 226034775 G A rs371169629 TMEM63A Nonsynonymous SNV T797M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.149 293452 chr10 70229816 70229816 C T rs201396965 DNA2 Nonsynonymous SNV G60E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 293453 chr1 155104003 155104003 G A rs868264737 EFNA1 Nonsynonymous SNV R94Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.28 293454 chr1 155260402 155260402 G A rs140859641 PKLR Synonymous SNV S562S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 14.88 293455 chr11 1097335 1097335 C T rs374409467 MUC2 Nonsynonymous SNV R2251W 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 293456 chr1 231906623 231906623 G A rs377426796 DISC1 Nonsynonymous SNV A131T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 293457 chr11 113570723 113570723 A C TMPRSS5 Nonsynonymous SNV S14A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.511 293458 chr1 236704956 236704956 C T LGALS8 Synonymous SNV D156D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.758 293459 chr11 116633405 116633405 T C rs751821355 BUD13 Synonymous SNV P300P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 293460 chr1 160808253 160808253 G C rs774418118 CD244 Synonymous SNV T182T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.214 293461 chr1 160920942 160920942 C A ITLN2 Nonsynonymous SNV R111L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 293462 chr1 161044163 161044163 T A rs143846956 NECTIN4 Nonsynonymous SNV D334V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 293463 chr1 238046066 238046066 T A ZP4 Nonsynonymous SNV T491S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.032 293464 chr1 161176378 161176378 C G NDUFS2 Synonymous SNV T128T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 293465 chr10 91497999 91497999 C T rs1053507629 KIF20B Nonsynonymous SNV T1134I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 293466 chr1 167973928 167973928 A G DCAF6 Synonymous SNV S394S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 293467 chr1 246755057 246755057 - AGC CNST Q66_D67insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 293468 chr1 172376970 172376971 CT - rs772700232 DNM3 L857Vfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 293469 chr11 121000407 121000407 C T rs758974282 TECTA Stop gain R810X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 293470 chr10 98764538 98764538 C T rs149952840 SLIT1 Nonsynonymous SNV D1208N 0 0 0.003 0 0 0 0 1 0 0 0 0 30 293471 chr1 166890072 166890072 C T rs767703731 ILDR2 Nonsynonymous SNV A586T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.8 293472 chr1 177933354 177933354 C T rs374687099 CRYZL2P-SEC16B, SEC16B Synonymous SNV P198P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.587 293473 chr1 248366867 248366869 CTC - OR2M3 S167del 0 0 0.003 0 0 0 0 1 0 0 0 0 293474 chr1 181058731 181058731 C T rs749344813 IER5 Synonymous SNV C231C 0.002 0 0 0 2 0 0 0 0 0 0 0 9.352 293475 chr1 154458484 154458484 G A rs373471610 SHE Synonymous SNV C412C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 293476 chr11 11986151 11986151 G A DKK3 Nonsynonymous SNV P305S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 293477 chr1 156142783 156142783 T C rs146822426 SEMA4A Nonsynonymous SNV M302T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 293478 chr1 186157098 186157098 G A rs772909507 HMCN1 Nonsynonymous SNV D5500N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 293479 chr1 28948475 28948475 A G rs376623498 TAF12 Nonsynonymous SNV I40T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.285 293480 chr11 128332364 128332364 C T rs200548427 ETS1 Synonymous SNV A190A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 293481 chr1 158655108 158655108 C T rs199690643 SPTA1 Synonymous SNV L18L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.18 293482 chr1 34254293 34254293 G C CSMD2 Nonsynonymous SNV P524R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 293483 chr1 201752932 201752932 C T rs113832250 NAV1 Nonsynonymous SNV T528M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 293484 chr11 117214984 117214984 G A CEP164 Stop gain W62X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 293485 chr11 117779448 117779448 G T rs761696763 TMPRSS13 Nonsynonymous SNV N352K 0 0 0.003 0 0 0 0 1 0 0 0 0 21 293486 chr11 19213898 19213898 G A rs758947977 CSRP3 Nonsynonymous SNV T33M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 293487 chr11 118896429 118896429 C T rs369907198 SLC37A4 Synonymous SNV A341A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.932 293488 chr11 118984371 118984371 A G rs749508914 C2CD2L Nonsynonymous SNV T480A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 293489 chr1 203054624 203054624 G T MYOG Nonsynonymous SNV P156T 0.003 0.003 0 0 4 1 0 0 0 0 0 0 6.921 293490 chr11 119243445 119243445 C T rs771186824 USP2 Nonsynonymous SNV R249H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 293491 chr1 45294074 45294074 C G PTCH2 Nonsynonymous SNV V535L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 293492 chr1 45296597 45296597 C T PTCH2 Nonsynonymous SNV A246T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 293493 chr1 47282839 47282839 G A rs748528353 CYP4B1 Nonsynonymous SNV R235Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 293494 chr1 48705078 48705078 G A rs75695974 SLC5A9 Nonsynonymous SNV G516R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 293495 chr1 214819349 214819349 G A rs776493372 CENPF Nonsynonymous SNV E2146K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 293496 chr11 1251281 1251281 G A MUC5B Nonsynonymous SNV G423S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 293497 chr11 130543034 130543034 T - C11orf44 V54Afs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 293498 chr1 186276820 186276820 A G rs746103823 PRG4 Nonsynonymous SNV T523A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.111 293499 chr1 223568074 223568074 C T rs149890777 CCDC185 Synonymous SNV V419V 0.004 0.005 0 0 5 2 0 0 0 0 0 0 11.14 293500 chr1 214170082 214170082 T A rs745794343 PROX1 Nonsynonymous SNV N68K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 293501 chr1 224621504 224621504 A C rs765417177 WDR26 Nonsynonymous SNV S102A 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.124 293502 chr11 15260471 15260471 A G rs7123855 INSC Nonsynonymous SNV Q373R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.971 293503 chr1 228109441 228109441 C T WNT9A Synonymous SNV L292L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.054 293504 chr1 200633104 200633104 A C rs771028844 DDX59 Synonymous SNV L305L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.008 293505 chr1 228468024 228468024 A G rs974072312 OBSCN Nonsynonymous SNV H2603R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.6 293506 chr1 228470914 228470914 C T rs752213522 OBSCN Nonsynonymous SNV S2889L 0 0 0 1 0 0 0.003 0 0 0 0 0 23 293507 chr11 18380094 18380094 A G rs138965123 GTF2H1 Synonymous SNV Q458Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.679 293508 chr11 250859 250859 C T rs758682140 PSMD13 Synonymous SNV L279L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.56 293509 chr20 10620278 10620278 C T rs745431482 JAG1 Synonymous SNV A1175A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.23 293510 chr11 43591517 43591517 C A rs144888335 MIR670HG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 293511 chr11 44089282 44089282 A T rs749776484 ACCS Nonsynonymous SNV E35D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.755 293512 chr11 47599086 47599086 G C rs148905856 KBTBD4 Nonsynonymous SNV R205G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 293513 chr1 243433513 243433513 T A rs368801248 SDCCAG8 Nonsynonymous SNV N58K 0 0.005 0 0 0 2 0 0 0 0 0 0 3.442 293514 chr11 55798303 55798303 T G OR5AS1 Nonsynonymous SNV S137A 0.001 0 0 0 1 0 0 0 0 0 0 0 14 293515 chr1 228553261 228553261 C T rs529666963 OBSCN Nonsynonymous SNV R6355W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 293516 chr1 230795282 230795282 C T rs142733439 COG2 Synonymous SNV L49L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 293517 chr1 230841679 230841679 C T rs74315283 AGT Nonsynonymous SNV R375Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 33 293518 chr2 9515046 9515046 G A rs139367850 ASAP2 Synonymous SNV T573T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 293519 chr20 29891223 29891223 C G DEFB116 Nonsynonymous SNV R34P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.398 293520 chr1 231557230 231557230 G A rs781566823 EGLN1 Synonymous SNV G135G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.541 293521 chr1 231664471 231664471 C T rs577053760 TSNAX-DISC1 0 0 0 1 0 0 0.003 0 0 0 0 0 7.765 293522 chr2 11765412 11765412 C T rs377043071 GREB1 Nonsynonymous SNV S1427L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 293523 chr2 15555767 15555767 G A NBAS Nonsynonymous SNV P947L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 293524 chr2 25039607 25039607 G C rs567990516 CENPO Nonsynonymous SNV Q223H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 293525 chr2 27676886 27676886 C T rs141440865 IFT172 Nonsynonymous SNV R1225Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 35 293526 chr20 39991330 39991330 C T rs149345201 EMILIN3 Synonymous SNV P293P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.399 293527 chr1 245851080 245851080 C T rs372309449 KIF26B Nonsynonymous SNV P1599S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 293528 chr2 27883899 27883899 T G rs147739348 SUPT7L Nonsynonymous SNV N124T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 293529 chr2 11798684 11798684 C T rs144468085 NTSR2 Nonsynonymous SNV R385Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 293530 chr2 15601877 15601877 A G rs755726542 NBAS Synonymous SNV Y712Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.393 293531 chr20 4781629 4781629 T C RASSF2 Synonymous SNV K16K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.226 293532 chr2 30998898 30998898 G A rs200851606 CAPN13 Synonymous SNV F95F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 293533 chr2 17696953 17696953 C T rs771330725 RAD51AP2 Synonymous SNV E910E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.305 293534 chr20 53205129 53205129 C T rs144328268 DOK5 Synonymous SNV C94C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 293535 chr2 31593333 31593333 G A rs45448694 XDH Nonsynonymous SNV T623I 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.007 293536 chr2 37516543 37516543 G A rs34280934 PRKD3 Nonsynonymous SNV P225S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.31 293537 chr1 248845372 248845372 T A rs771631759 OR14I1 Nonsynonymous SNV K78N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 293538 chr2 47238530 47238530 G A rs114276698 TTC7A Nonsynonymous SNV V96M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.9 293539 chr2 3196243 3196243 C T rs781124556 EIPR1 Nonsynonymous SNV G167S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 293540 chr20 60888742 60888742 A T LAMA5 Nonsynonymous SNV F2874Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 293541 chr2 55155485 55155485 C T rs113704115 EML6 Synonymous SNV H1237H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 4.295 293542 chr2 55181181 55181181 G A rs368943496 EML6 Synonymous SNV R1458R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.952 293543 chr2 44223013 44223013 C T rs780400922 LRPPRC Nonsynonymous SNV R25H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 24.9 293544 chr2 55795348 55795348 C T rs143418918 PPP4R3B Synonymous SNV L554L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 293545 chr2 55795378 55795378 A G rs140302691 PPP4R3B Synonymous SNV Y544Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.456 293546 chr2 55872511 55872511 A T rs147375807 PNPT1 Nonsynonymous SNV S599T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 293547 chr11 6007810 6007810 G A rs780719156 OR52L1 Synonymous SNV I117I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.093 293548 chr11 61539211 61539211 C T rs758533263 MYRF Nonsynonymous SNV A327V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 293549 chr2 20153690 20153690 T C WDR35 Synonymous SNV K435K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 2.14 293550 chr2 20178633 20178633 C T rs778060987 WDR35 Stop gain W105X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 293551 chr11 62289555 62289555 G C rs138474498 AHNAK Nonsynonymous SNV L4112V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.009 293552 chr2 61413384 61413384 C T AHSA2P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.959 293553 chr2 71058931 71058931 G A rs527591997 CD207 Nonsynonymous SNV A246V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 293554 chr20 62332039 62332039 G A ARFRP1 Nonsynonymous SNV P121L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 293555 chr2 24438929 24438929 C A ITSN2 Stop gain E1287X 0 0 0 1 0 0 0.003 0 0 0 0 0 45 293556 chr11 61906427 61906427 A G INCENP Nonsynonymous SNV N414S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 293557 chr11 6292063 6292070 GGCGAGGC - rs758354941 CCKBR E282Afs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 293558 chr11 62346175 62346175 T C rs370164368 TUT1 Nonsynonymous SNV M340V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 293559 chr2 73491623 73491623 C T rs200040373 FBXO41 Nonsynonymous SNV R530Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.78 293560 chr2 73800462 73800462 C T ALMS1 Nonsynonymous SNV L3819F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 293561 chr2 85049153 85049153 C T rs199868738 TRABD2A Nonsynonymous SNV R420H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.812 293562 chr2 48808766 48808766 G C STON1, STON1-GTF2A1L Nonsynonymous SNV E332Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 293563 chr2 73613034 73613034 - GGAGGA ALMS1 E28_A29insEE 0.002 0 0 2 2 0 0.005 0 0 0 0 0 293564 chr21 33757922 33757922 T G rs980114514 URB1 Nonsynonymous SNV I72L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 293565 chr2 74754896 74754896 G C AUP1 Nonsynonymous SNV R270G 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 26.4 293566 chr11 64123080 64123080 A C rs757820302 CCDC88B Nonsynonymous SNV E1452A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 293567 chr21 38084860 38084860 G A SIM2 Nonsynonymous SNV A96T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 293568 chr11 64807311 64807311 C T rs76150557 ARL2-SNX15 0.001 0 0 0 1 0 0 0 0 0 0 0 6.968 293569 chr21 38580825 38580825 G A DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 0.084 293570 chr11 64882393 64882393 C T rs760444560 TM7SF2 Synonymous SNV V244V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 293571 chr11 64981480 64981480 - C rs746296618 SLC22A20P 0.001 0 0 0 1 0 0 0 0 0 0 0 293572 chr11 65029840 65029840 A G rs191135388 POLA2 Nonsynonymous SNV K26R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.826 293573 chr11 6520182 6520182 A G DNHD1 Nonsynonymous SNV K246R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 293574 chr2 69746221 69746221 G A rs779560247 AAK1 Synonymous SNV P454P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.473 293575 chr11 65404401 65404401 G A rs749421599 PCNX3 Synonymous SNV E2019E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.415 293576 chr21 41165466 41165466 G A rs137865645 IGSF5 Nonsynonymous SNV A352T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 293577 chr11 65743898 65743898 C G rs747693158 SART1 Synonymous SNV R535R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 293578 chr11 6651813 6651813 C G DCHS1 Synonymous SNV A1404A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 293579 chr11 66392769 66392769 C T rs141425284 RBM14 Synonymous SNV Y474Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.718 293580 chr11 66627157 66627157 G A rs202226738 LRFN4 Nonsynonymous SNV G467S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 293581 chr11 66807426 66807426 T - rs755903998 SYT12 Y10Mfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 293582 chr11 67188145 67188145 G A rs537788289 CARNS1 Synonymous SNV L270L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.939 293583 chr2 100210050 100210073 GGACAGAGGGTACTCCTCCTGCTC - AFF3 E709_S716del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 293584 chr21 46276241 46276241 C T rs775551316 PTTG1IP Nonsynonymous SNV G106R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 293585 chr11 67261523 67261523 T C rs750390180 PITPNM1 Nonsynonymous SNV T959A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 293586 chr11 67402674 67402674 G A TBX10 Nonsynonymous SNV T23I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 293587 chr2 61172192 61172192 A C PUS10 Nonsynonymous SNV I278M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.54 293588 chr2 61447577 61447577 G T USP34 Nonsynonymous SNV P2639T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 293589 chr2 61753594 61753594 G A rs769897503 XPO1 Synonymous SNV V63V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.671 293590 chr11 7021772 7021772 G T ZNF214 Nonsynonymous SNV T381K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 293591 chr2 99291579 99291579 T C MGAT4A Nonsynonymous SNV I108V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.76 293592 chr11 71907148 71907148 G A rs796052444 FOLR1 Nonsynonymous SNV S234N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.164 293593 chr11 73021849 73021849 G T rs139702671 ARHGEF17 Nonsynonymous SNV L722F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 293594 chr11 72983398 72983398 C T rs952242267 P2RY6 Synonymous SNV N52N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.165 293595 chr11 74053641 74053641 G T rs777347602 PGM2L1 Synonymous SNV T499T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.296 293596 chr11 74303728 74303728 A G rs992150712 POLD3 Nonsynonymous SNV N9D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 293597 chr2 74749737 74749737 C T rs755763286 DQX1 Nonsynonymous SNV E489K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 293598 chr22 24455705 24455705 C A rs376495290 CABIN1 Nonsynonymous SNV D376E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 293599 chr12 123414661 123414661 G A rs751711542 ABCB9 Nonsynonymous SNV R637W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 293600 chr22 24837544 24837544 A T rs979415154 SPECC1L-ADORA2A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.774 293601 chr22 28559457 28559457 C T rs537044022 TTC28 Nonsynonymous SNV R355Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 293602 chr2 118698860 118698860 C T rs144153360 CCDC93 Nonsynonymous SNV R476Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 293603 chr22 30198183 30198183 G A rs144156991 ASCC2 Synonymous SNV A278A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.985 293604 chr2 98277101 98277101 C T rs759788778 ACTR1B Nonsynonymous SNV R41Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 293605 chr2 128335759 128335759 A G rs768654746 MYO7B Nonsynonymous SNV I301V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.505 293606 chr11 8751635 8751635 T A ST5 Nonsynonymous SNV N401I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.74 293607 chr2 128383014 128383014 T C MYO7B Synonymous SNV A1347A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.398 293608 chr11 85438592 85438592 A G SYTL2 Synonymous SNV S603S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.198 293609 chr22 32108917 32108917 T G PRR14L Nonsynonymous SNV R1636S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.03 293610 chr2 128928814 128928814 A G rs749991903 UGGT1 Synonymous SNV V1020V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 293611 chr2 179325173 179325173 A C rs727502958 PJVK Nonsynonymous SNV N256H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 293612 chr2 160114308 160114308 C T rs139910347 WDSUB1 Nonsynonymous SNV V136M 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 293613 chr2 105472843 105472843 C A rs752015441 POU3F3 Nonsynonymous SNV P292Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 293614 chr2 179611201 179611201 T C rs150017914 TTN Nonsynonymous SNV E5309G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.49 293615 chr11 93148228 93148228 A T rs201101075 DEUP1 Nonsynonymous SNV Q529L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 293616 chr11 9068954 9068954 G A rs148718644 SCUBE2 Nonsynonymous SNV R496C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 293617 chr2 136575049 136575049 C A rs376254978 LCT Synonymous SNV A523A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.41 293618 chr11 94341823 94341823 C T rs146415204 PIWIL4 Synonymous SNV C638C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 293619 chr2 182781077 182781077 A T rs370591849 ITPRID2 Nonsynonymous SNV N751Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 293620 chr2 179418425 179418425 A G TTN Synonymous SNV Y20704Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.005 293621 chr2 120003010 120003010 C T STEAP3-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 6.632 293622 chr22 42209318 42209318 C T rs768057684 CCDC134 Nonsynonymous SNV R121C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 293623 chr12 104100571 104100571 C T rs151019558 STAB2 Nonsynonymous SNV T1333M 0 0.003 0.007 0 0 1 0 2 0 0 0 0 16.54 293624 chr12 101584337 101584337 C T SLC5A8 Nonsynonymous SNV G248R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 293625 chr2 189912966 189912966 G T rs201186702 COL5A2 Nonsynonymous SNV T1057N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.3 293626 chr2 128712764 128712764 C T rs374139019 SAP130 Nonsynonymous SNV A704T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 293627 chr2 131487000 131487000 C G rs77336024 GPR148 Nonsynonymous SNV I92M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 293628 chr22 45127654 45127654 T C rs779869976 PRR5 Nonsynonymous SNV F28L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 293629 chr2 170042445 170042445 C T rs35086590 LRP2 Nonsynonymous SNV R3138H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.152 293630 chr2 141460116 141460116 C T rs776979327 LRP1B Synonymous SNV L2010L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.384 293631 chr2 173338969 173338969 C T rs778467090 ITGA6 Nonsynonymous SNV A321V 0 0.003 0 0 0 1 0 0 0 0 0 0 35 293632 chr12 112223149 112223149 C A ALDH2 Synonymous SNV R100R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 293633 chr2 206364648 206364648 C T rs752760723 PARD3B Nonsynonymous SNV R956C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 293634 chr2 173355990 173355990 G A rs34599583 ITGA6 Synonymous SNV P940P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.728 293635 chr2 173366607 173366607 G A rs16860616 ITGA6 Synonymous SNV X1074X 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 18.89 293636 chr2 173429231 173429231 C A rs141078693 PDK1 Nonsynonymous SNV D137E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.86 293637 chr2 206628631 206628631 A G rs144880811 NRP2 Nonsynonymous SNV I760V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 293638 chr12 112684748 112684748 C T rs779750695 HECTD4 Synonymous SNV S1500S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.624 293639 chr2 175432685 175432685 G A rs879255352 WIPF1 Nonsynonymous SNV P416S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.6 293640 chr2 179188943 179188943 G A rs138286651 OSBPL6 Nonsynonymous SNV E27K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 293641 chr2 152980430 152980430 T G rs767495361 STAM2 Nonsynonymous SNV H400P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.18 293642 chr2 179699136 179699136 C T CCDC141 Nonsynonymous SNV G1453R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 293643 chr22 51012958 51012958 C T rs764447498 CPT1B Nonsynonymous SNV M249I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 293644 chr2 101644850 101644850 A G TBC1D8 Nonsynonymous SNV V741A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.955 293645 chr2 217724752 217724752 C T rs201840333 TNP1 Synonymous SNV S2S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 293646 chr12 122658458 122658458 C T rs756327888 IL31 Nonsynonymous SNV R33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 293647 chr2 113088800 113088800 A G ZC3H6 Nonsynonymous SNV R769G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 293648 chr2 174946710 174946710 A G rs138590546 OLA1 Synonymous SNV L113L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.257 293649 chr2 179401881 179401881 C T rs72648279 TTN Nonsynonymous SNV G24254R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.5 293650 chr2 179453516 179453518 TCT - rs727505236 TTN E11914del 0 0 0 1 0 0 0.003 0 0 0 0 0 293651 chr2 218762578 218762578 C G rs59421454 TNS1 Synonymous SNV R37R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 11.99 293652 chr2 224642495 224642495 G A rs78536455 AP1S3 Nonsynonymous SNV T32I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 12.14 293653 chr2 204131293 204131293 C G rs148045812 CYP20A1 Synonymous SNV P61P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 293654 chr12 123003433 123003433 T A rs762400577 RSRC2 Nonsynonymous SNV R117S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.97 293655 chr12 124387577 124387577 G A rs535744707 DNAH10 Synonymous SNV T3126T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.496 293656 chr2 192711447 192711447 G C rs990267231 CAVIN2 Nonsynonymous SNV L69V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.2 293657 chr2 224463990 224463990 G A rs970707700 SCG2 Nonsynonymous SNV A4V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.711 293658 chr2 204821438 204821438 G C rs76778263 ICOS Nonsynonymous SNV V151L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.514 293659 chr12 57424918 57424918 G A rs113470661 MYO1A Nonsynonymous SNV S797F 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Benign/Likely benign 25.8 293660 chr12 41967043 41967043 A G rs149769921 PDZRN4 Nonsynonymous SNV K563R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 293661 chr2 241419034 241419034 A C rs201404193 ANKMY1 Nonsynonymous SNV F719V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.605 293662 chr12 4554560 4554560 G A FGF6 Synonymous SNV S59S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.857 293663 chr2 210557884 210557884 G A rs778020793 MAP2 Synonymous SNV K326K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.081 293664 chr2 234418763 234418763 T C rs766484610 USP40 Nonsynonymous SNV M848V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 293665 chr2 242035471 242035473 TCA - rs750458659 MTERF4 D174del 0.001 0 0 0 1 0 0 0 0 0 0 0 293666 chr2 174940167 174940167 G A rs772391571 OLA1 Nonsynonymous SNV P235L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 293667 chr12 49425701 49425701 G A KMT2D Nonsynonymous SNV L4263F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 293668 chr12 50586322 50586322 C T LIMA1 Synonymous SNV E49E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 293669 chr12 42836451 42836451 G A rs764072834 PPHLN1 Nonsynonymous SNV G225R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 293670 chr3 9976559 9976559 A G rs746207786 CRELD1 Nonsynonymous SNV N72S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 25.3 293671 chr2 225717708 225717708 G T DOCK10 Nonsynonymous SNV Q668K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 293672 chr2 242139566 242139566 C A rs771718133 ANO7 Nonsynonymous SNV N160K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.32 293673 chr12 49434555 49434555 G A rs377504041 KMT2D Nonsynonymous SNV P2333L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.6 293674 chr3 3078980 3078980 G A rs760085098 CNTN4 Nonsynonymous SNV R358H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.7 293675 chr2 231988339 231988339 A G rs781205348 HTR2B Nonsynonymous SNV V47A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.605 293676 chr3 3144359 3144359 G A rs142856302 IL5RA Synonymous SNV D76D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.062 293677 chr3 5229872 5229872 G T rs985689338 EDEM1 Nonsynonymous SNV A128S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.87 293678 chr3 9425907 9425907 A G rs143369584 THUMPD3 Nonsynonymous SNV K416R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 293679 chr12 57605313 57605313 G A rs148215878 LRP1 Nonsynonymous SNV G4379S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 293680 chr3 11059617 11059617 C A rs770237522 SLC6A1 Synonymous SNV S109S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.32 293681 chr2 206608046 206608046 C T rs746710925 NRP2 Nonsynonymous SNV R471C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 293682 chr3 38181484 38181484 C A rs746846997 MYD88 Nonsynonymous SNV P153H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.5 293683 chr12 52962051 52962051 C T rs143744119 KRT74 Synonymous SNV A419A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.47 293684 chr3 13612821 13612821 G A FBLN2 Synonymous SNV E322E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 293685 chr2 20845153 20845153 G C rs183630990 HS1BP3 Nonsynonymous SNV L49V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 293686 chr12 62931471 62931471 C G rs138597890 MON2 Synonymous SNV V701V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 293687 chr3 39178807 39178807 C T rs777630958 TTC21A Nonsynonymous SNV R1086W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 293688 chr12 64819232 64819232 G A XPOT Nonsynonymous SNV V523I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 293689 chr2 241066272 241066272 A G rs142104600 COPS9 Nonsynonymous SNV M156T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 293690 chr3 39452459 39452459 A G rs151047013 RPSA Nonsynonymous SNV Y161C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 293691 chr3 29910409 29910409 A T rs766794924 RBMS3 Nonsynonymous SNV Q232L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.1 293692 chr12 53900567 53900567 T C rs776225198 NPFF Nonsynonymous SNV K115R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 293693 chr12 69650487 69650487 G A CPSF6 Nonsynonymous SNV V129I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 293694 chr3 36915641 36915641 C G TRANK1 Nonsynonymous SNV A308P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.69 293695 chr2 242758301 242758301 T C rs147362605 NEU4 Nonsynonymous SNV L474P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 293696 chr13 114535305 114535305 G A rs753479956 GAS6 Synonymous SNV S370S 0.004 0 0 0 5 0 0 0 0 0 0 0 10.26 293697 chr12 74686378 74686378 T C rs769643940 LOC100507377 0 0 0.003 0 0 0 0 1 0 0 0 0 3.722 293698 chr3 8675560 8675560 G T rs151315819 SSUH2 Nonsynonymous SNV T22K 0 0 0 1 0 0 0.003 0 0 0 0 0 1.71 293699 chr2 220333735 220333735 T C rs189442728 SPEG Synonymous SNV Y1152Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.145 293700 chr12 57585242 57585242 A T LRP1 Nonsynonymous SNV D2459V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 293701 chr12 53679994 53679994 A T ESPL1 Synonymous SNV A1158A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.549 293702 chr12 57976896 57976896 G A rs148434838 KIF5A Synonymous SNV P922P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.733 293703 chr3 11340206 11340206 C T rs200350728 ATG7 Synonymous SNV L13L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 293704 chr12 6172138 6172138 G A rs377198574 VWF Synonymous SNV R505R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.84 293705 chr12 86199291 86199291 C T rs200777764 RASSF9 Nonsynonymous SNV R166Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 293706 chr3 49456821 49456821 C T AMT Nonsynonymous SNV V146I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 293707 chr12 56075758 56075758 C G METTL7B Nonsynonymous SNV L74V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.3 293708 chr3 49739833 49739833 C T rs200239238 RNF123 Nonsynonymous SNV R542W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 293709 chr3 49755664 49755664 C A rs777552578 AMIGO3 Nonsynonymous SNV R412L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 293710 chr2 233697698 233697698 G A GIGYF2 Synonymous SNV L881L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.449 293711 chr3 52392018 52392018 G T rs201355893 DNAH1 Nonsynonymous SNV R1362L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.4 293712 chr3 52392019 52392019 G T rs199813499 DNAH1 Synonymous SNV R1362R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.02 293713 chr12 991188 991188 G A WNK1 Synonymous SNV R860R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.486 293714 chr12 71029848 71029848 T A PTPRB 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 293715 chr3 29476277 29476277 C T rs373300306 RBMS3 Nonsynonymous SNV P39L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 293716 chr2 234719561 234719561 T C rs975052953 MROH2A Nonsynonymous SNV V857A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.868 293717 chr13 101795543 101795543 C T NALCN Nonsynonymous SNV R640H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 293718 chr3 42573785 42573785 C T rs748019905 VIPR1 Nonsynonymous SNV R114W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 293719 chr3 58553023 58553023 A C rs761489059 FAM107A Nonsynonymous SNV I80S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 293720 chr3 38739859 38739859 T G SCN10A Nonsynonymous SNV M1520L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.2 293721 chr3 49314305 49314306 TT - rs763969811 C3orf62 Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 293722 chr13 113833282 113833282 T C rs755266653 PCID2 Nonsynonymous SNV M370V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 293723 chr3 49881975 49881975 T C rs200749327 TRAIP Synonymous SNV K93K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.79 293724 chr2 241862054 241862054 C T rs1005090935 CROCC2 Synonymous SNV A160A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.946 293725 chr3 50377987 50377987 G T RASSF1 Nonsynonymous SNV H84N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.4 293726 chr3 45814012 45814012 G A rs149505473 SLC6A20 Synonymous SNV Y226Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.14 293727 chr3 51297679 51297679 T C rs372189733 DOCK3 Synonymous SNV S759S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.579 293728 chr2 242651432 242651432 G A rs777960965 ING5 Nonsynonymous SNV R143Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 293729 chr3 52432961 52432961 T C rs768008571 DNAH1 Nonsynonymous SNV M4062T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 293730 chr2 242757861 242757861 C T rs778804876 NEU4 Synonymous SNV H327H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.824 293731 chr3 52559003 52559003 G A rs371689836 NT5DC2 Synonymous SNV L441L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.527 293732 chr3 46654178 46654178 G A rs185687131 FAM240A Nonsynonymous SNV R2Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.15 293733 chr3 99567342 99567342 T C rs376027916 FILIP1L Nonsynonymous SNV N820D 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 293734 chr2 26683586 26683586 C T rs141235641 OTOF Synonymous SNV L1224L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.85 293735 chr13 31318280 31318280 C T rs143706085 ALOX5AP Nonsynonymous SNV R52W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 293736 chr3 49055482 49055482 G A rs767344445 DALRD3 Synonymous SNV H145H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.611 293737 chr3 49146454 49146454 C T rs774752672 USP19 Synonymous SNV A1298A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.37 293738 chr3 48607324 48607324 G A rs201897441 COL7A1 Nonsynonymous SNV R2504C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 293739 chr2 29448360 29448360 C T rs370049091 ALK Nonsynonymous SNV A1047T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.5 293740 chr2 30966396 30966397 GT - CAPN13 T433Cfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 293741 chr3 50327510 50327510 G T rs782710960 IFRD2 Synonymous SNV G196G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.538 293742 chr13 43500482 43500482 G A EPSTI1 Nonsynonymous SNV S89F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 293743 chr2 39082370 39082370 C T rs142927843 DHX57 Synonymous SNV P476P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 293744 chr3 52420242 52420242 A C rs760419345 DNAH1 Nonsynonymous SNV K2898Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 293745 chr2 39082382 39082382 G A rs147731841 DHX57 Synonymous SNV T472T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 293746 chr3 52800383 52800383 A C rs750076497 NEK4 Nonsynonymous SNV H34Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 293747 chr13 114781684 114781684 C G rs778269384 RASA3 Nonsynonymous SNV E392Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 293748 chr13 52539149 52539149 C T rs116703544 ATP7B Synonymous SNV A576A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.57 293749 chr13 103338589 103338589 - C rs772514954 METTL21C Frameshift insertion V196Gfs*37 0.002 0 0 0 2 0 0 0 0 0 0 0 293750 chr2 47043862 47043862 T G rs188273476 LINC01118 0 0 0.003 0 0 0 0 1 0 0 0 0 0.546 293751 chr3 56716760 56716760 G C TASOR Nonsynonymous SNV P92R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 293752 chr3 64085057 64085057 G A PRICKLE2 Synonymous SNV S735S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 293753 chr3 69221048 69221048 A C rs777932741 FRMD4B Nonsynonymous SNV F1023L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.1 293754 chr3 71748835 71748835 T C EIF4E3 Nonsynonymous SNV I92V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 293755 chr13 32366006 32366006 G A rs891975228 RXFP2 Synonymous SNV T379T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 293756 chr3 127981010 127981010 G A rs112744437 EEFSEC Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.406 293757 chr3 98217073 98217073 C T OR5K2 Synonymous SNV P183P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.519 293758 chr13 32893381 32893381 A G rs80358502 BRCA2 Nonsynonymous SNV I79V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.415 293759 chr3 129389394 129389394 T A rs114658461 TMCC1 Synonymous SNV S257S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 293760 chr14 21796620 21796620 G A rs995654544 RPGRIP1 Nonsynonymous SNV G978D 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 293761 chr13 33110576 33110579 CAGA - N4BP2L2 S196Nfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 293762 chr2 71595602 71595602 T G rs41285973 ZNF638 Nonsynonymous SNV L696V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.262 293763 chr13 39264381 39264381 A G rs138726274 FREM2 Nonsynonymous SNV N967S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 293764 chr3 101572097 101572097 G A rs150091528 NFKBIZ Nonsynonymous SNV V243M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.244 293765 chr14 105405090 105405090 G A rs141727495 AHNAK2 Synonymous SNV L5466L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.612 293766 chr13 28644750 28644750 C A FLT3 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 293767 chr2 85820166 85820166 T C rs139027613 VAMP5 Synonymous SNV G79G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.704 293768 chr13 32893444 32893444 A G BRCA2 Nonsynonymous SNV K100E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.9 293769 chr3 142840432 142840432 G A rs76774286 CHST2 Synonymous SNV V258V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.532 293770 chr2 8930074 8930074 C T rs370240605 KIDINS220 Synonymous SNV T520T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 293771 chr3 100105711 100105711 T C rs771898041 TOMM70 Nonsynonymous SNV T146A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.371 293772 chr3 128722888 128722888 G T rs568197517 EFCC1 Synonymous SNV V316V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.84 293773 chr3 160135690 160135690 T C rs372582464 SMC4 Synonymous SNV A539A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.973 293774 chr14 23894565 23894565 G A rs139882431 MYH7 Synonymous SNV R783R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.16 293775 chr13 99374088 99374088 C T rs768537060 SLC15A1 Synonymous SNV A145A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 293776 chr14 23994314 23994314 A T ZFHX2 Nonsynonymous SNV F1613I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 293777 chr3 130394216 130394216 A G rs756139102 COL6A6 Nonsynonymous SNV E2256G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.357 293778 chr3 131100650 131100650 T C NUDT16 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 293779 chr14 101005134 101005134 C T rs772540238 BEGAIN Synonymous SNV L318L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.435 293780 chr14 25075817 25075817 G A rs201578280 GZMH Nonsynonymous SNV R159C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.082 293781 chr13 53603069 53603069 G A OLFM4 Nonsynonymous SNV G33D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 293782 chr3 172766747 172766747 A G rs758393334 SPATA16 Synonymous SNV H250H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.161 293783 chr3 125282593 125282593 C T rs371633056 OSBPL11 Synonymous SNV P321P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.03 293784 chr3 126142191 126142191 C T rs201731331 CFAP100 Nonsynonymous SNV T369M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.683 293785 chr3 120394711 120394711 C T rs397515347 HGD 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 26.8 293786 chr14 36986576 36986576 C T NKX2-1 Synonymous SNV Q341Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.571 293787 chr3 164792455 164792455 T C rs747623135 SI Nonsynonymous SNV E40G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.377 293788 chr3 172533478 172533478 G A ECT2 Nonsynonymous SNV A769T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.9 293789 chr3 130282208 130282208 G A rs757601806 COL6A6 Nonsynonymous SNV A121T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 293790 chr3 186302233 186302233 G A rs571309721 DNAJB11 Synonymous SNV R289R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.49 293791 chr14 52534794 52534794 T C NID2 Nonsynonymous SNV I106V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 293792 chr3 190374214 190374214 C T rs201781727 IL1RAP Nonsynonymous SNV R628W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 293793 chr3 127336835 127336835 A T MCM2 Nonsynonymous SNV T642S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 293794 chr3 142145678 142145678 G A XRN1 Nonsynonymous SNV A105V 0 0 0 1 0 0 0.003 0 0 0 0 0 31 293795 chr3 143513895 143513895 A T rs201860661 SLC9A9 Nonsynonymous SNV S161T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 293796 chr3 151046659 151046659 T C P2RY13 Nonsynonymous SNV N62S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 293797 chr3 151598894 151598894 G C SUCNR1 Nonsynonymous SNV S188T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 293798 chr3 196387058 196387058 C A rs140233771 NRROS Nonsynonymous SNV R182S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.18 293799 chr3 158422713 158422713 T C rs754085409 RARRES1 Nonsynonymous SNV N180S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 293800 chr14 23523353 23523353 G T rs139832060 CDH24 Synonymous SNV R323R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.927 293801 chr3 136699423 136699423 C T rs769191141 IL20RB Synonymous SNV V68V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 293802 chr14 75593455 75593455 A C rs765144535 NEK9 Nonsynonymous SNV V57G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 293803 chr14 77746273 77746273 T A POMT2 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 293804 chr4 2911134 2911134 C T rs535021964 ADD1 Synonymous SNV P558P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 293805 chr3 15520497 15520497 C T rs201856842 COLQ Nonsynonymous SNV R93Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 293806 chr3 183959380 183959380 G C VWA5B2 Nonsynonymous SNV V877L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.532 293807 chr14 33291631 33291631 C T rs369118703 AKAP6 Nonsynonymous SNV R1538C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 293808 chr3 15717442 15717442 C T ANKRD28 Synonymous SNV L792L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 293809 chr3 159943959 159943959 A G rs535572881 C3orf80 Synonymous SNV S179S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.882 293810 chr14 91636508 91636508 G A rs762671243 DGLUCY Nonsynonymous SNV R140K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 293811 chr3 184105799 184105799 C T rs371271527 CHRD Synonymous SNV T844T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.02 293812 chr3 166960371 166960371 G A ZBBX Nonsynonymous SNV S704L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 293813 chr14 24661460 24661460 C T TM9SF1 Nonsynonymous SNV G357D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 293814 chr14 95934260 95934260 G T rs778184864 SYNE3 Synonymous SNV L63L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 293815 chr3 183528329 183528329 C G YEATS2 Nonsynonymous SNV F1409L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 293816 chr4 15938190 15938190 C T rs759916905 FGFBP1 Synonymous SNV E22E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.065 293817 chr4 26487495 26487495 A G CCKAR Synonymous SNV F130F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.325 293818 chr15 102346285 102346285 C T rs543000714 OR4F6 Synonymous SNV D121D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 293819 chr15 21937983 21937983 C T rs182223937 LOC646214 0 0 0.007 0 0 0 0 2 0 0 0 0 3.186 293820 chr14 60574913 60574913 T C PCNX4 Nonsynonymous SNV I186T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 293821 chr14 38296536 38296536 G T TTC6 Stop gain G389X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 47 293822 chr15 25475870 25475870 G A rs139045618 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 3.297 293823 chr14 45431941 45431941 C T rs1014681889 TOGARAM1 Nonsynonymous SNV A106V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.66 293824 chr14 64496662 64496662 A G rs750058499 SYNE2 Nonsynonymous SNV Q2255R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 293825 chr4 737287 737287 C G PCGF3 Nonsynonymous SNV F96L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 293826 chr4 40810536 40810536 T A rs373567742 NSUN7 Nonsynonymous SNV N579K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 293827 chr14 52794037 52794037 C T rs181468557 PTGER2 Synonymous SNV V314V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 16.16 293828 chr14 73739361 73739361 A T rs141811407 PAPLN Nonsynonymous SNV I1276F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 293829 chr14 57114019 57114019 A G rs749734931 TMEM260 Nonsynonymous SNV Y643C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 293830 chr4 3441278 3441278 C T rs556019881 RGS12 Nonsynonymous SNV A756V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.954 293831 chr4 5448496 5448496 G A rs373843574 STK32B Nonsynonymous SNV R190Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26 293832 chr14 75136805 75136805 C T rs77043880 AREL1 Nonsynonymous SNV A545T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 293833 chr15 42170762 42170762 A T rs967580175 SPTBN5 Nonsynonymous SNV L1083Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 293834 chr4 71275350 71275350 A G rs770383722 OPRPN Nonsynonymous SNV Y102C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 293835 chr3 38158025 38158025 C T rs760972466 DLEC1 Nonsynonymous SNV P1316L 0 0 0.007 0 0 0 0 2 0 0 0 0 23 293836 chr14 77951208 77951208 G T rs149033774 ISM2 Nonsynonymous SNV L66I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 293837 chr14 78018503 78018503 A G rs140041902 SPTLC2 Synonymous SNV P413P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.724 293838 chr4 57797580 57797580 G A rs115143003 REST Synonymous SNV K852K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 8.535 293839 chr4 74719814 74719814 T C rs777831802 PF4V1 Nonsynonymous SNV I97T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 293840 chr15 44828761 44828761 C T EIF3J-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 9.12 293841 chr15 45898708 45898708 T C BLOC1S6 Nonsynonymous SNV M177T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 293842 chr15 49284769 49284771 TCT - rs201240214 SECISBP2L E947del 0 0.003 0.003 0 0 1 0 1 0 0 0 0 293843 chr15 51634008 51634008 G A GLDN Nonsynonymous SNV G43R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 293844 chr4 85419239 85419239 G A rs756805721 NKX6-1 Nonsynonymous SNV P48L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 293845 chr14 78140250 78140250 C T rs147570421 ALKBH1 Nonsynonymous SNV E359K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 293846 chr15 58983876 58983879 TTTT - HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 293847 chr14 96797864 96797864 G A rs763967812 ATG2B Nonsynonymous SNV P527S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 293848 chr4 89034551 89034551 C T rs35622453 ABCG2 Synonymous SNV E366E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.378 293849 chr4 89575229 89575229 C T rs200080956 HERC3 Nonsynonymous SNV T123M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 293850 chr4 46258235 46258235 A G rs1009777259 GABRA2 Nonsynonymous SNV C351R 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 293851 chr3 48681029 48681029 G T rs948565668 CELSR3 Synonymous SNV I2749I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 293852 chr3 49139660 49139660 C T rs764009927 QARS Synonymous SNV T192T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.73 293853 chr3 49755845 49755845 A C rs776880189 AMIGO3 Nonsynonymous SNV C352G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 293854 chr4 48563644 48563644 G A FRYL Nonsynonymous SNV P1236S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.41 293855 chr4 54362372 54362372 C T rs146095628 LNX1 Nonsynonymous SNV E294K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.69 293856 chr3 52386678 52386678 G A rs371396999 DNAH1 Nonsynonymous SNV M994I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.113 293857 chr15 69238119 69238119 C T rs757784904 SPESP1 Synonymous SNV D82D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.376 293858 chr15 31727821 31727821 A G rs749347142 KLF13 Nonsynonymous SNV T276A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 293859 chr15 33359063 33359063 G C rs202171796 FMN1 Synonymous SNV L341L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.473 293860 chr3 52819188 52819188 C T rs368547088 ITIH1 Synonymous SNV A224A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 293861 chr15 74653937 74653937 C A rs145056042 PPIAP46 0 0 0.003 0 0 0 0 1 0 0 0 0 5.241 293862 chr15 74654153 74654153 T A rs113533848 PPIAP46 0 0 0.003 0 0 0 0 1 0 0 0 0 3.821 293863 chr4 110791861 110791861 G A rs752020151 LRIT3 Synonymous SNV E652E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.892 293864 chr4 71255518 71255518 G A rs769338737 SMR3B Nonsynonymous SNV A65T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.644 293865 chr15 75641527 75641527 C T NEIL1 Nonsynonymous SNV P180L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 293866 chr15 23086262 23086262 C T rs749385624 NIPA1 Synonymous SNV K50K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.22 293867 chr15 29488715 29488715 C T rs117164491 FAM189A1 Synonymous SNV S147S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 293868 chr15 81176572 81176572 C T rs202049796 CEMIP Nonsynonymous SNV A225V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.023 293869 chr15 42169404 42169404 C A SPTBN5 Synonymous SNV G1207G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 293870 chr4 83557865 83557865 G A rs758788225 SCD5 Synonymous SNV R227R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.338 293871 chr4 145628262 145628262 T C HHIP Nonsynonymous SNV L336S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.174 293872 chr4 87653857 87653857 A G rs371792053 PTPN13 Nonsynonymous SNV D599G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 293873 chr15 43440991 43440991 C T TMEM62 Stop gain Q27X 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 293874 chr15 90610834 90610834 C T rs552089563 ZNF710 Synonymous SNV A155A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.57 293875 chr4 100571847 100571847 T C C4orf54 Nonsynonymous SNV E1320G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 293876 chr4 173269681 173269681 C T rs143545755 GALNTL6 Nonsynonymous SNV H132Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 293877 chr15 91354439 91354439 A G rs28377085 BLM Synonymous SNV E1162E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.208 293878 chr4 174254309 174254309 A G rs746887319 HMGB2 Synonymous SNV A69A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.826 293879 chr15 91435960 91435960 C T rs140724143 FES Synonymous SNV S519S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 293880 chr4 123164202 123164202 A G KIAA1109 Nonsynonymous SNV Q1574R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 293881 chr4 185138935 185138935 G T ENPP6 Nonsynonymous SNV A13D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 293882 chr15 59980984 59980984 T C rs6151435 BNIP2 Nonsynonymous SNV S26G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.232 293883 chr4 186318366 186318366 C G ANKRD37 Nonsynonymous SNV C30W 0.001 0 0 0 1 0 0 0 0 0 0 0 9.168 293884 chr4 186320739 186320739 C T rs368868442 ANKRD37 Synonymous SNV N96N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 293885 chr4 119252952 119252952 T C rs756685819 PRSS12 Nonsynonymous SNV H297R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.59 293886 chr4 120107248 120107248 C T rs372215131 MYOZ2 Nonsynonymous SNV R230W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 293887 chr4 144617604 144617604 T C FREM3 Nonsynonymous SNV T1409A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 293888 chr16 15702212 15702212 C T rs768195354 MARF1 Nonsynonymous SNV R1373H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 293889 chr16 15771786 15771786 C T rs775566610 NDE1 Synonymous SNV D122D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 293890 chr4 145636540 145636540 T C rs199620075 HHIP Nonsynonymous SNV Y546H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.01 293891 chr5 6602574 6602574 G A rs146557587 NSUN2 Nonsynonymous SNV A631V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 293892 chr16 21213295 21213295 G A rs190038226 ZP2 Nonsynonymous SNV T446M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 293893 chr16 2136839 2136839 C T TSC2 Synonymous SNV D1408D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.899 293894 chr15 66222148 66222148 G C MEGF11 Synonymous SNV T494T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.549 293895 chr15 78390847 78390847 G A SH2D7 Nonsynonymous SNV R185H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.351 293896 chr4 17609107 17609107 G A rs182447248 LAP3 Synonymous SNV V485V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 293897 chr5 7886760 7886762 TGT - rs796052001 MTRR C364del 0.002 0.003 0 0 2 1 0 0 0 0 0 0 293898 chr15 84324527 84324527 C T rs147914990 ADAMTSL3 Nonsynonymous SNV T5M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.724 293899 chr4 184019379 184019379 T A WWC2-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 7.069 293900 chr16 29825015 29825015 G C rs745594874 PRRT2 Nonsynonymous SNV A214P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 293901 chr4 175898212 175898212 C T rs752263818 ADAM29 Synonymous SNV G512G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 293902 chr5 41012710 41012710 T C rs200620715 MROH2B Nonsynonymous SNV Q1037R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.381 293903 chr15 90146045 90146045 A G rs201869320 TICRR Synonymous SNV R861R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.368 293904 chr15 90169014 90169014 T C rs780551698 TICRR Nonsynonymous SNV S1824P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 293905 chr5 39388901 39388901 C T rs200618196 DAB2 Synonymous SNV S208S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 21.5 293906 chr4 2932643 2932643 C T rs748576806 MFSD10 Synonymous SNV T430T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 293907 chr16 3646377 3646377 G A rs776750571 SLX4 Synonymous SNV P567P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.619 293908 chr4 38053598 38053598 C T TBC1D1 Synonymous SNV N663N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 293909 chr5 2752805 2752805 T C rs151254882 C5orf38 Synonymous SNV P90P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.041 293910 chr5 6652043 6652043 G A rs140569241 SRD5A1 Nonsynonymous SNV G128S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 33 293911 chr4 437829 437829 C T rs369596095 ZNF721 Nonsynonymous SNV G143S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 293912 chr16 12618648 12618648 C T rs760280875 SNX29 Synonymous SNV F756F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 293913 chr5 13735384 13735384 C G rs770233429 DNAH5 Nonsynonymous SNV E3873Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 293914 chr5 13883075 13883075 C T rs146828513 DNAH5 Nonsynonymous SNV V1038M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 23.9 293915 chr16 133077 133077 C G rs148265856 MPG Synonymous SNV G109G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.84 293916 chr5 21842404 21842404 C T CDH12 Nonsynonymous SNV R3K 0 0 0 1 0 0 0.003 0 0 0 0 0 32 293917 chr16 15813533 15813533 G A MYH11 Nonsynonymous SNV A1664V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 293918 chr5 32710805 32710805 C T rs749396325 NPR3 Nonsynonymous SNV P13S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.95 293919 chr16 67268086 67268086 G T rs770549814 FHOD1 Nonsynonymous SNV A507D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.259 293920 chr5 37205459 37205459 C T CPLANE1 Nonsynonymous SNV E1083K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.9 293921 chr16 67692963 67692963 A C rs755523137 ACD Synonymous SNV L171L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 293922 chr16 10575791 10575791 G A rs758547789 ATF7IP2 Synonymous SNV K578K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.87 293923 chr5 36049454 36049454 C G rs200862040 UGT3A2 Nonsynonymous SNV R93T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.58 293924 chr16 68011677 68011677 G C rs147119305 DPEP3 Nonsynonymous SNV S271W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 293925 chr16 11781802 11781802 G A rs61739865 TXNDC11 Synonymous SNV Y236Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 1.702 293926 chr5 52096564 52096564 G C rs150767441 PELO Synonymous SNV L112L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.748 293927 chr5 52096837 52096837 G A PELO Synonymous SNV K203K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.866 293928 chr16 2137935 2137935 C T rs779923426 TSC2 Synonymous SNV C1443C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.94 293929 chr5 58652602 58652603 CG - rs777819600 PDE4D R24Ffs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 293930 chr4 81283906 81283906 A G rs150478667 CFAP299 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 293931 chr5 89979871 89979871 G A rs41308846 ADGRV1 Nonsynonymous SNV G2045R 0.003 0.003 0.003 0 3 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 293932 chr4 84205933 84205933 G A COQ2 Synonymous SNV P45P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 293933 chr16 30903925 30903925 G A rs375059314 BCL7C Nonsynonymous SNV R142W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 293934 chr5 72469948 72469948 T C rs764782954 TMEM174 Nonsynonymous SNV F230L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.46 293935 chr5 96215503 96215503 C G rs144285538 ERAP2 Nonsynonymous SNV F38L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.638 293936 chr5 74324571 74324571 T A rs755451923 GCNT4 Nonsynonymous SNV Q431L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 293937 chr5 74324779 74324779 G T rs771746061 GCNT4 Nonsynonymous SNV L362M 0 0 0 1 0 0 0.003 0 0 0 0 0 16.98 293938 chr5 131252578 131252578 C A MEIKIN 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 293939 chr4 95532300 95532300 A C rs540823063 PDLIM5 Nonsynonymous SNV Y319S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.37 293940 chr16 81703818 81703818 G A rs370366653 CMIP Synonymous SNV A205A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 293941 chr5 110440431 110440431 A G rs753999568 WDR36 Synonymous SNV R370R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.756 293942 chr5 111602006 111602006 C T EPB41L4A Synonymous SNV V119V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 293943 chr5 112769885 112769885 C T TSSK1B Nonsynonymous SNV D218N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.8 293944 chr16 29982815 29982815 T C TMEM219 Synonymous SNV A224A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.328 293945 chr16 30133311 30133311 C T rs200617125 MAPK3 Nonsynonymous SNV V63M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 293946 chr16 30775684 30775684 C T rs140350331 RNF40 Synonymous SNV L209L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 293947 chr16 88499412 88499412 C T ZNF469 Nonsynonymous SNV P1845L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.47 293948 chr16 29912787 29912787 G A rs746765946 ASPHD1 Synonymous SNV V165V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.1 293949 chr5 140731125 140731125 G A rs200369157 PCDHGB1 Nonsynonymous SNV S433N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 293950 chr16 30129103 30129103 G T rs61764216 MAPK3 Synonymous SNV G221G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.58 293951 chr16 532707 532707 C T rs139755055 RAB11FIP3 Synonymous SNV D52D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.39 293952 chr5 127420028 127420028 C T rs750922559 SLC12A2 Nonsynonymous SNV P128S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.348 293953 chr16 53468640 53468640 A G rs779525722 RBL2 Nonsynonymous SNV M58V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 293954 chr16 88783439 88783439 C T PIEZO1 Nonsynonymous SNV G2218S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 293955 chr5 131953874 131953874 C T rs121912628 RAD50 Stop gain R1093X 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 44 293956 chr16 57054708 57054708 G A rs750282131 NLRC5 Synonymous SNV L28L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.227 293957 chr5 93739296 93739296 A G KIAA0825 Synonymous SNV T955T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.579 293958 chr5 110809083 110809083 T C rs777357216 CAMK4 Synonymous SNV L37L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.56 293959 chr16 3274372 3274372 G A rs757702140 ZNF200 Synonymous SNV D235D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 0.033 293960 chr16 89977016 89977016 A G rs199908569 TCF25 Nonsynonymous SNV H606R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.647 293961 chr16 8998307 8998307 G A rs777293299 USP7 Synonymous SNV L547L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 293962 chr16 90048229 90048229 G T rs750728309 AFG3L1P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.102 293963 chr5 115298338 115298338 C G rs200890347 LVRN Synonymous SNV G8G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.346 293964 chr16 66919667 66919667 G A rs145548142 PDP2 Nonsynonymous SNV A494T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.562 293965 chr16 67229794 67229808 CAGCAGCAGCAGCAG - rs1030903434 E2F4 S315_S319del 0.002 0 0 0 2 0 0 0 0 0 0 0 293966 chr16 67866414 67866414 T C rs375656381 CENPT Nonsynonymous SNV R49G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 293967 chr5 140741889 140741889 T A rs369360424 PCDHGB2 Synonymous SNV P729P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.07 293968 chr5 156932772 156932772 G A rs143031163 ADAM19 Synonymous SNV H345H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 293969 chr5 156945849 156945849 G A rs72811306 ADAM19 Synonymous SNV L216L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.11 293970 chr17 17682319 17682319 A T rs554678182 SMCR5 0 0 0.003 0 0 0 0 1 0 0 0 0 2.254 293971 chr5 14608944 14608944 C T rs141442803 OTULINL Nonsynonymous SNV L239F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 293972 chr16 78064573 78064573 C T rs765373485 CLEC3A Synonymous SNV D143D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 293973 chr5 139942255 139942255 C T rs146738104 APBB3 Nonsynonymous SNV G115E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 293974 chr5 149503816 149503816 C T rs779431081 PDGFRB Nonsynonymous SNV G610R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 293975 chr5 138282937 138282937 C T rs398124389 SIL1 Nonsynonymous SNV G419S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.041 293976 chr16 83932762 83932762 G A rs745604653 MLYCD Nonsynonymous SNV G5R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.55 293977 chr5 140176554 140176554 T C rs142817543 PCDHA2 Synonymous SNV L669L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 293978 chr5 140176562 140176562 A G rs147392568 PCDHA2 Synonymous SNV E671E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.06 293979 chr16 84495538 84495538 G A ATP2C2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.864 293980 chr5 141028528 141028528 G A rs371297507 FCHSD1 Nonsynonymous SNV T191I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.54 293981 chr16 857522 857523 GC - PRR25 E175Afs*111 0.001 0 0 0 1 0 0 0 0 0 0 0 293982 chr16 857531 857539 CCGCGTGCA - PRR25 R177_Q179del 0.001 0 0 0 1 0 0 0 0 0 0 0 293983 chr16 857542 857542 C - PRR25 A180Gfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 293984 chr16 857545 857545 - T PRR25 Frameshift insertion L183Pfs*104 0.001 0 0 0 1 0 0 0 0 0 0 0 293985 chr17 26958908 26958908 T G rs202131006 KIAA0100 Nonsynonymous SNV Q1199H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 293986 chr5 140573087 140573087 C T PCDHB10 Nonsynonymous SNV A321V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 293987 chr17 3214537 3214537 C T rs527841606 OR3A4P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.571 293988 chr5 140953564 140953572 GGAGGAGGA - rs936562898 DIAPH1 P609_P611del 0 0 0 1 0 0 0.003 0 0 0 0 0 293989 chr16 89349977 89349977 G A rs565434508 ANKRD11 Synonymous SNV G991G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.086 293990 chr5 149576685 149576685 C T rs200058333 SLC6A7 Nonsynonymous SNV L144F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 293991 chr17 37374159 37374159 G A rs374888495 STAC2 Stop gain R120X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 293992 chr17 10312830 10312830 G A MYH8 Synonymous SNV L555L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.433 293993 chr16 83933036 83933036 G C MLYCD Nonsynonymous SNV G96A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.87 293994 chr16 84884260 84884260 G A rs373699416 CRISPLD2 Synonymous SNV A193A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.021 293995 chr17 16843113 16843113 T C TNFRSF13B 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 293996 chr5 37020602 37020602 A G rs765047071 NIPBL Synonymous SNV T1684T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.277 293997 chr5 159492020 159492020 C T TTC1 Nonsynonymous SNV S276F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 293998 chr5 175957644 175957644 G A rs200230961 RNF44 Nonsynonymous SNV P247L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 293999 chr17 40025798 40025798 C T ACLY Nonsynonymous SNV V1038I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 294000 chr6 11213880 11213880 G A rs147764448 NEDD9 Synonymous SNV T31T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.72 294001 chr6 38773263 38773263 G A rs375687323 DNAH8 Nonsynonymous SNV R797Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 294002 chr5 176318502 176318502 T C HK3 Nonsynonymous SNV Q49R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.25 294003 chr17 41835957 41835957 C T rs150640883 SOST Synonymous SNV E51E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 13.98 294004 chr5 63894250 63894250 T C rs373375396 RGS7BP Nonsynonymous SNV I90T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.419 294005 chr17 41891595 41891595 C T rs757509188 MPP3 Nonsynonymous SNV G407R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 294006 chr17 42082405 42082405 C A rs185863881 NAGS Nonsynonymous SNV T125K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 17.02 294007 chr17 2232670 2232670 G A rs143811242 TSR1 Stop gain R624X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 294008 chr16 9943663 9943663 G A rs776324005 GRIN2A Synonymous SNV T426T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.44 294009 chr5 72364574 72364574 C T rs151301877 FCHO2 Nonsynonymous SNV A483V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.7 294010 chr17 27068992 27068992 C T rs777112980 NEK8 Nonsynonymous SNV P689L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 294011 chr17 27233221 27233221 G A rs199953861 PHF12 Nonsynonymous SNV R999C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 294012 chr5 178977782 178977782 G T rs768128345 RUFY1 Nonsynonymous SNV R71L 0 0 0 1 0 0 0.003 0 0 0 0 0 24 294013 chr17 27861171 27861171 G A TAOK1 Synonymous SNV Q651Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.652 294014 chr17 27861213 27861213 T C rs545856392 TAOK1 Synonymous SNV N665N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.42 294015 chr17 4645102 4645102 G A rs146977234 ZMYND15 Nonsynonymous SNV R273Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 294016 chr17 33434074 33434074 T C rs201676898 RAD51D Nonsynonymous SNV N158S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.044 294017 chr5 180660683 180660683 C T rs77567667 TRIM41 Nonsynonymous SNV P404L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 294018 chr5 180687012 180687012 T C rs201912827 TRIM52 Nonsynonymous SNV Q268R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 294019 chr17 48559517 48559517 G A rs148954596 RSAD1 Synonymous SNV T180T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 294020 chr17 48559747 48559747 A C rs140459309 RSAD1 Nonsynonymous SNV Y257S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 294021 chr17 48614425 48614425 C T rs146173668 EPN3 Nonsynonymous SNV R170C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 294022 chr17 48618328 48618328 C T rs147653757 EPN3 Nonsynonymous SNV T385I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.929 294023 chr17 48618933 48618933 A T rs149276132 EPN3 Nonsynonymous SNV K488I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 294024 chr17 48619437 48619437 - CCGCCCCCAGCTGGCCTG rs746023268 EPN3 P607_Q608insPPAGLP 0 0 0.003 0 0 0 0 1 0 0 0 0 294025 chr17 48632895 48632895 C T rs145914453 SPATA20 Nonsynonymous SNV R745C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 294026 chr17 5138081 5138081 G A rs747008534 LOC100130950 0 0 0.003 0 0 0 0 1 0 0 0 0 3.78 294027 chr5 90078996 90078996 T C rs372799791 ADGRV1 Synonymous SNV Y4429Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.026 294028 chr6 7240793 7240793 C T rs141706996 RREB1 Nonsynonymous SNV P1311S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 294029 chr5 93807393 93807393 - GTG KIAA0825 P499_L500insP 0 0 0.003 0 0 0 0 1 0 0 0 0 294030 chr17 4675382 4675382 C T rs140698226 TM4SF5 Synonymous SNV G55G 0.003 0 0 0 4 0 0 0 0 0 0 0 12.57 294031 chr6 7414582 7414582 C T rs56090491 RIOK1 Nonsynonymous SNV R415C 0 0 0.007 2 0 0 0.005 2 0 0 0 0 22.9 294032 chr6 7889781 7889781 C T rs139130947 TXNDC5 Nonsynonymous SNV G148R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 294033 chr6 57012785 57012785 T A rs151150457 ZNF451 Nonsynonymous SNV H634Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21 294034 chr17 36623424 36623424 G A ARHGAP23 Synonymous SNV K500K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.31 294035 chr17 56247930 56247930 G A rs139385412 OR4D2 Nonsynonymous SNV R305Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.366 294036 chr6 25554271 25554271 G A rs181145814 CARMIL1 Nonsynonymous SNV D847N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 294037 chr6 43323496 43323496 G A rs151197319 ZNF318 Nonsynonymous SNV R526C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 294038 chr6 90383177 90383177 C G MDN1 Nonsynonymous SNV D4418H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.81 294039 chr6 43589493 43589493 C T rs35691947 GTPBP2 Nonsynonymous SNV R468H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 294040 chr17 66871780 66871780 C T rs753250390 ABCA8 Nonsynonymous SNV A1449T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294041 chr17 66982349 66982349 G A rs370508226 ABCA9 Synonymous SNV A1388A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 294042 chr6 119252836 119252836 G A rs114642748 MCM9 Nonsynonymous SNV S18L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 294043 chr17 68129107 68129107 C T KCNJ16 Synonymous SNV H328H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.147 294044 chr17 37682208 37682208 A G rs749718922 CDK12 Synonymous SNV Q1133Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 294045 chr6 43225666 43225666 G A rs139836965 TTBK1 Synonymous SNV P326P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 294046 chr6 109700847 109700847 T C rs145357332 CD164 Nonsynonymous SNV N65S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.64 294047 chr17 71335056 71335056 G A rs376496362 SDK2 Synonymous SNV V2063V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 294048 chr6 34823441 34823441 C T rs374018301 UHRF1BP1 Nonsynonymous SNV R361C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 294049 chr6 110763745 110763745 A G rs553330078 SLC22A16 Synonymous SNV L295L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.262 294050 chr6 139563947 139563947 C T rs149055963 TXLNB Nonsynonymous SNV E591K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.164 294051 chr6 55378847 55378847 C T rs963740838 HMGCLL1 Nonsynonymous SNV G149R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 294052 chr17 73617257 73617257 G A rs200357711 MYO15B 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 294053 chr6 38754658 38754658 A G rs777664096 DNAH8 Nonsynonymous SNV D621G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 294054 chr17 74003217 74003217 G A rs144079186 EVPL Synonymous SNV S2045S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.778 294055 chr17 41180611 41180611 C T rs763757347 RND2 Stop gain R200X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 294056 chr6 152420018 152420018 G A rs199967983 ESR1 Nonsynonymous SNV A569T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.312 294057 chr6 42641599 42641599 A G rs377016061 UBR2 Nonsynonymous SNV Q1386R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 294058 chr17 42248240 42248240 G A rs765664033 ASB16 Nonsynonymous SNV R28Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22 294059 chr6 15452303 15452303 A G rs148700457 JARID2 Synonymous SNV V130V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.158 294060 chr6 139206671 139206671 C A rs750896814 ECT2L Nonsynonymous SNV T686N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 294061 chr6 143091326 143091326 G A rs1004404974 HIVEP2 Nonsynonymous SNV S1517L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 294062 chr6 85466517 85466517 T C rs371050182 TBX18 Nonsynonymous SNV I224V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 294063 chr6 160448269 160448269 C T rs764774613 IGF2R Synonymous SNV A233A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 294064 chr6 147885588 147885588 G A rs140643252 SAMD5 Nonsynonymous SNV R173H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 294065 chr17 4643866 4643866 G A rs750351512 ZMYND15 Nonsynonymous SNV R8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 294066 chr17 78942498 78942500 GGG - LOC400627 0 0 0.003 0 0 0 0 1 0 0 0 0 294067 chr17 79005030 79005030 C T rs73361794 BAIAP2-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 3.897 294068 chr17 79005358 79005358 C T rs113832731 BAIAP2-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 4.438 294069 chr17 79073862 79073862 C T rs141445738 BAIAP2 Synonymous SNV S208S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.745 294070 chr17 79090061 79090061 C T rs149637388 BAIAP2 Nonsynonymous SNV R539W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 294071 chr17 79099125 79099125 G A rs146763174 MIR657 0 0 0.003 0 0 0 0 1 0 0 0 0 1.344 294072 chr6 49936469 49936469 T C rs180815205 DEFB113 Nonsynonymous SNV N57S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 294073 chr17 79278405 79278405 A G rs141515163 LINC00482 0 0 0.003 0 0 0 0 1 0 0 0 0 4.788 294074 chr6 153345411 153345411 G C rs201244111 RGS17 Nonsynonymous SNV L144V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 294075 chr17 79986996 79986996 G A rs751249175 LRRC45 Nonsynonymous SNV E446K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 294076 chr6 18399836 18399836 C T rs151124896 RNF144B Nonsynonymous SNV P24L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.769 294077 chr6 25600607 25600607 G A rs747214238 CARMIL1 Nonsynonymous SNV R1062Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294078 chr6 159457034 159457034 T C rs148570036 TAGAP Nonsynonymous SNV H611R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 294079 chr17 8638831 8638831 C T rs141777168 CCDC42 Synonymous SNV E197E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.874 294080 chr6 27326847 27326847 C T rs115597094 ZNF204P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.421 294081 chr17 9725132 9725132 C A GSG1L2 Nonsynonymous SNV R86L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 294082 chr18 12674711 12674711 G A rs147218951 CEP76 Synonymous SNV Y480Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.449 294083 chr17 56811513 56811513 C T rs761770500 RAD51C Nonsynonymous SNV A354V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.58 294084 chr6 90500035 90500035 G T rs994847848 MDN1 Nonsynonymous SNV T314N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.98 294085 chr6 96976391 96976391 G A rs149739092 UFL1 Nonsynonymous SNV R160Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 294086 chr6 168459825 168459825 C T rs552660720 FRMD1 Synonymous SNV Q394Q 0.002 0 0 0 2 0 0 0 0 0 0 0 3.951 294087 chr6 99283133 99283133 T G rs766389803 POU3F2 Nonsynonymous SNV H128Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.657 294088 chr17 4576219 4576219 C A PELP1 Nonsynonymous SNV M689I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.617 294089 chr6 170592641 170592641 G A rs778339510 DLL1 Nonsynonymous SNV H576Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.141 294090 chr6 106999771 106999771 T C rs764766479 CRYBG1 Nonsynonymous SNV I1378T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 294091 chr18 29444631 29444631 G A rs760135978 TRAPPC8 Nonsynonymous SNV R902C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 294092 chr7 299911 299911 C G FAM20C Nonsynonymous SNV L574V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 294093 chr6 138754450 138754450 G A rs774115580 NHSL1 Synonymous SNV L348L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.54 294094 chr7 1024828 1024828 G T CYP2W1 Nonsynonymous SNV G172C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 294095 chr6 144765448 144765448 G A rs150084858 UTRN Nonsynonymous SNV R515H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 294096 chr6 109995458 109995458 C A AK9 Nonsynonymous SNV G42W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 294097 chr6 151186991 151186991 G A MTHFD1L Synonymous SNV Q11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.225 294098 chr6 41126346 41126346 C A rs768583708 TREM2 Nonsynonymous SNV G219C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.566 294099 chr17 63533673 63533673 G A rs730881396 AXIN2 Nonsynonymous SNV P494L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.018 294100 chr18 47340424 47340424 C G rs566678542 SCARNA17, SNHG22 0 0 0.003 0 0 0 0 1 0 0 0 0 4.232 294101 chr7 12620723 12620723 G T SCIN Synonymous SNV T131T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 294102 chr17 7214767 7214767 T C rs753811920 EIF5A Synonymous SNV I153I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.493 294103 chr6 51640639 51640639 T C rs113562492 PKHD1 Nonsynonymous SNV M2841V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.199 294104 chr6 144780141 144780141 C G UTRN Synonymous SNV S840S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 294105 chr18 671433 671433 C T rs143415597 TYMS Synonymous SNV I179I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.9 294106 chr6 149953931 149953931 C T rs140455659 KATNA1 Nonsynonymous SNV G95E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.3 294107 chr18 72006042 72006042 G C C18orf63 Nonsynonymous SNV W198C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 294108 chr7 31793118 31793118 G C rs200681508 PDE1C Nonsynonymous SNV S670R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 294109 chr6 56483852 56483852 T G rs2230863 DST Synonymous SNV V1660V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.13 294110 chr6 7387253 7387253 T C CAGE1 Nonsynonymous SNV I52V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 294111 chr7 43916633 43916633 C T URGCP Nonsynonymous SNV G801E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 294112 chr19 1010387 1010387 T C rs752963465 TMEM259 Nonsynonymous SNV M609V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 294113 chr7 1786120 1786120 G A rs143719181 ELFN1 Nonsynonymous SNV V630M 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.006 294114 chr7 2581089 2581089 C T rs201141165 BRAT1 Synonymous SNV A213A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 14.71 294115 chr6 84055985 84055985 G T ME1 Synonymous SNV I169I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 294116 chr17 7139029 7139029 G A rs776408756 PHF23 Synonymous SNV P309P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.006 294117 chr6 159654823 159654823 C T rs370364529 FNDC1 Synonymous SNV A1093A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.84 294118 chr17 76887661 76887661 C T rs936772505 CEP295NL Nonsynonymous SNV G309R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.24 294119 chr6 160679618 160679618 C T rs138397321 SLC22A2 Nonsynonymous SNV E58K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.3 294120 chr7 20197913 20197913 C G rs778210684 MACC1 Nonsynonymous SNV E691Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 294121 chr7 100466316 100466316 C T rs748045368 TRIP6 Nonsynonymous SNV A188V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 294122 chr7 20725400 20725400 G C rs780950220 ABCB5 Nonsynonymous SNV V206L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 294123 chr19 11287403 11287403 C T rs369814991 KANK2 Synonymous SNV R545R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 294124 chr7 69755365 69755365 G C rs779574078 AUTS2 Nonsynonymous SNV K224N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.483 294125 chr19 14000445 14000445 G - C19orf57 G291Afs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 294126 chr19 14157404 14157404 C T IL27RA Nonsynonymous SNV P372L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.25 294127 chr19 14720916 14720916 G T CLEC17A Nonsynonymous SNV D349Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 294128 chr17 80037464 80037464 C T rs143485066 FASN Synonymous SNV P2389P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.74 294129 chr19 14938849 14938849 C G OR7A5 Nonsynonymous SNV A69P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 294130 chr7 87908833 87908833 G A rs528338063 STEAP4 Synonymous SNV Y244Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 294131 chr7 4198170 4198170 C T rs369246636 SDK1 Synonymous SNV T59T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.56 294132 chr17 76480995 76480995 A G rs979893810 DNAH17 Nonsynonymous SNV V2535A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 294133 chr7 4830100 4830100 T G AP5Z1 Nonsynonymous SNV S450A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.46 294134 chr7 92730853 92730853 C A rs200178876 SAMD9 Stop gain E1520X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 37 294135 chr19 16008285 16008285 C A rs141050546 CYP4F2 Nonsynonymous SNV R46L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 294136 chr7 5270476 5270476 C T rs201024337 WIPI2 Synonymous SNV D351D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.85 294137 chr7 100839276 100839276 T C rs367611618 MOGAT3 Nonsynonymous SNV H326R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 294138 chr7 99755879 99755879 G A rs554461580 MAP11 Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.714 294139 chr7 11632881 11632881 G A rs951200337 THSD7A Nonsynonymous SNV T424M 0 0 0 1 0 0 0.003 0 0 0 0 0 7.137 294140 chr7 103162532 103162532 G A rs750764421 RELN Synonymous SNV N2535N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 294141 chr7 107756536 107756536 G A rs757835315 LAMB4 Synonymous SNV L35L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.528 294142 chr7 21641108 21641108 G A DNAH11 Nonsynonymous SNV V1174M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 294143 chr7 45145254 45145254 C T TBRG4 Stop gain W185X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 294144 chr18 29522710 29522710 T C rs775065074 TRAPPC8 Synonymous SNV Q6Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 294145 chr7 12263933 12263933 C A TMEM106B Synonymous SNV I121I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 294146 chr7 47970796 47970796 C T rs577610499 PKD1L1 Synonymous SNV T214T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.69 294147 chr7 29035428 29035428 C T rs147771477 CPVL Nonsynonymous SNV R286Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 25.6 294148 chr19 19452167 19452167 G A rs967337017 MAU2 Nonsynonymous SNV R229H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294149 chr7 30704716 30704716 G A CRHR2 Synonymous SNV L170L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.92 294150 chr7 56151925 56151925 A G PHKG1 Synonymous SNV T110T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 294151 chr7 76924096 76924096 T C CCDC146 Synonymous SNV Y927Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.105 294152 chr7 34888132 34888132 C G rs186466499 NPSR1 Nonsynonymous SNV D228E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 294153 chr7 133984917 133984917 G A rs780307820 SLC35B4 Nonsynonymous SNV A195V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294154 chr7 138269650 138269650 G A rs746987506 TRIM24 Nonsynonymous SNV R1002Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294155 chr18 55335573 55335573 A G rs781593555 LOC100505549 0.001 0 0 0 1 0 0 0 0 0 0 0 5.026 294156 chr7 138588471 138588471 C T rs767187872 KIAA1549 Nonsynonymous SNV V1178I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 294157 chr7 91691718 91691718 G A rs138928104 AKAP9 Synonymous SNV E1965E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 7.482 294158 chr18 580807 580807 G A rs369120859 CETN1 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.867 294159 chr7 80301276 80301276 - CAAGT rs772709798 CD36 Frameshift insertion P312Qfs*12 0 0.003 0 0 0 1 0 0 0 0 0 0 294160 chr7 141619182 141619182 C A OR9A4 Stop gain C169X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 294161 chr7 100172023 100172023 G T ZASP Nonsynonymous SNV R53S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.391 294162 chr7 50435998 50435998 G A IKZF1 Nonsynonymous SNV G152E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.797 294163 chr19 3614473 3614473 C T rs532574991 CACTIN Nonsynonymous SNV R426H 0 0 0.003 0 0 0 0 1 0 0 0 0 25 294164 chr19 36159068 36159068 A T rs931137302 UPK1A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 294165 chr7 92983063 92983063 A G rs764244975 VPS50 Nonsynonymous SNV I859V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.99 294166 chr7 64004809 64004809 C T ZNF680 Nonsynonymous SNV G11E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.569 294167 chr7 1520020 1520020 C T rs375297696 INTS1 Nonsynonymous SNV R1336Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.22 294168 chr7 122787273 122787273 C T rs761976861 SLC13A1 Nonsynonymous SNV G251D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 294169 chr7 65592708 65592708 C T rs181879034 CRCP Nonsynonymous SNV A9V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 294170 chr19 1003695 1003695 C T rs918965745 GRIN3B Synonymous SNV P331P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.461 294171 chr19 3752505 3752505 C T rs763349184 APBA3 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 294172 chr19 3816706 3816706 C T rs746740509 ZFR2 Nonsynonymous SNV R690Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.564 294173 chr19 17397499 17397499 G T ANKLE1 Nonsynonymous SNV C590F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.305 294174 chr7 23347568 23347568 - GTAA rs781676274 MALSU1 Frameshift insertion S174Kfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 294175 chr7 23751749 23751749 A G rs777503275 STK31 Nonsynonymous SNV T5A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 294176 chr7 87323274 87323274 G A rs935115096 RUNDC3B Nonsynonymous SNV G97S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29 294177 chr19 3977265 3977265 G A rs533090086 EEF2 Synonymous SNV A777A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.4 294178 chr7 92734799 92734799 T C rs749492706 SAMD9 Synonymous SNV A204A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.467 294179 chr7 96635364 96635390 GCAGCAGCAGCAGCAGCAGCAGCAACA - rs923258368 DLX6 Q36_Q44del 0 0 0 1 0 0 0.003 0 0 0 0 0 294180 chr19 11833909 11833909 T C ZNF823 Nonsynonymous SNV H103R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 294181 chr19 12186904 12186904 T C rs762647435 ZNF844 Synonymous SNV Y323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.045 294182 chr19 12786623 12786623 G A rs555791104 DHPS Nonsynonymous SNV P359S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.811 294183 chr19 13216351 13216351 G T TRMT1 Nonsynonymous SNV F522L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 294184 chr7 149463124 149463124 G C rs777233009 ZNF467 Nonsynonymous SNV P156R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 294185 chr7 103969548 103969548 C T rs747889167 LHFPL3 Synonymous SNV A107A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.35 294186 chr19 14829726 14829727 AG - rs745999234 ZNF333 K301Tfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 294187 chr7 102939123 102939123 G C PMPCB Nonsynonymous SNV A70P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.5 294188 chr19 44117690 44117690 C T rs867220057 SRRM5 Nonsynonymous SNV R473C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 294189 chr7 105187435 105187435 C T RINT1 Synonymous SNV D120D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.59 294190 chr7 150935212 150935212 T A CHPF2 Synonymous SNV T588T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.567 294191 chr7 104753075 104753075 C T rs372628467 KMT2E Synonymous SNV A1624A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.022 294192 chr7 106301205 106301205 T C rs757126656 CCDC71L Synonymous SNV Q46Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.45 294193 chr7 557057 557057 T G PDGFA Nonsynonymous SNV Q45P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 294194 chr19 10265584 10265584 G A DNMT1 Synonymous SNV I531I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.09 294195 chr19 10367442 10367442 C T rs776559150 MRPL4 Nonsynonymous SNV P129L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.5 294196 chr7 141803168 141803168 G A rs200374214 MGAM Nonsynonymous SNV V1809I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 294197 chr19 47879727 47879727 G A rs149884083 DHX34 Nonsynonymous SNV A837T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.2 294198 chr19 47969613 47969613 G A rs773810963 SLC8A2 Synonymous SNV P16P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.251 294199 chr7 100856461 100856461 C T rs370032502 PLOD3 Nonsynonymous SNV R235Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 294200 chr19 20727473 20727473 T A rs782297410 ZNF737 Nonsynonymous SNV E512D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.26 294201 chr19 2114794 2114794 G C rs745451033 AP3D1 Nonsynonymous SNV D792E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 294202 chr19 2217887 2217887 C T rs768292906 DOT1L Synonymous SNV S887S 0.001 0 0 0 1 0 0 0 0 0 0 0 19 294203 chr19 14104641 14104641 C T rs778879311 RFX1 Synonymous SNV A5A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.6 294204 chr8 104144992 104144992 C T rs73701741 LINC01181 0 0 0.003 0 0 0 0 1 0 0 0 0 1.655 294205 chr8 104145538 104145538 G A rs73701742 BAALC-AS2, LINC01181 0 0 0.003 0 0 0 0 1 0 0 0 0 1.27 294206 chr8 104145549 104145549 A G rs73701743 BAALC-AS2, LINC01181 0 0 0.003 0 0 0 0 1 0 0 0 0 5.969 294207 chr8 110463223 110463223 C G PKHD1L1 Synonymous SNV A2065A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 294208 chr7 150749711 150749711 G A rs778336098 ASIC3 Nonsynonymous SNV R523H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 294209 chr8 30699574 30699574 T C rs938831287 TEX15 Synonymous SNV E2703E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 294210 chr7 151859899 151859899 G A rs148585727 KMT2C Nonsynonymous SNV S3588L 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 28.6 294211 chr8 33246914 33246914 G A rs137929632 FUT10 Nonsynonymous SNV A260V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.45 294212 chr8 124792758 124792758 A G FAM91A1 Nonsynonymous SNV I227V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 294213 chr19 36339939 36339939 G A rs759559801 NPHS1 Synonymous SNV C317C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.039 294214 chr8 41789947 41789947 T C rs145180409 KAT6A Nonsynonymous SNV M1931V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 294215 chr19 37117480 37117480 A G rs368484341 ZNF382 Synonymous SNV L226L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.344 294216 chr8 134025945 134025945 T C rs200367054 TG Synonymous SNV S2166S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.428 294217 chr8 10469639 10469639 C G RP1L1 Nonsynonymous SNV G657R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.16 294218 chr8 8185453 8185453 C T rs766439503 PRAG1 Nonsynonymous SNV E947K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.6 294219 chr19 53884067 53884067 C T rs756368049 ZNF525 Nonsynonymous SNV R79C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 294220 chr19 54185442 54185442 G A rs376077142 MIR520F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.474 294221 chr8 8175677 8175678 CA - PRAG1 *1403delinsSQAPACTVAAPSLPNPFLSRLGSTHVSLGNGTDDWDTWM* 0 0.003 0 0 0 1 0 0 0 0 0 0 294222 chr8 12879525 12879525 T C rs373685278 TRMT9B Nonsynonymous SNV I320T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 294223 chr19 55221610 55221610 T C rs540852323 LILRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.253 294224 chr19 38986951 38986951 C T rs146617004 RYR1 Synonymous SNV L2215L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.836 294225 chr19 39292512 39292512 G A rs756910152 LGALS4 Synonymous SNV Y288Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.6 294226 chr19 2015408 2015408 T C rs368057952 BTBD2 Nonsynonymous SNV S99G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.95 294227 chr19 39860374 39860374 A G rs146050396 SAMD4B Synonymous SNV P92P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.964 294228 chr19 39884273 39884273 G C rs147500056 MED29 Nonsynonymous SNV C119S 0.002 0 0 0 2 0 0 0 0 0 0 0 13 294229 chr19 55597888 55597888 T G EPS8L1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 294230 chr19 55624136 55624136 C T rs563546776 PPP1R12C Nonsynonymous SNV V117M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 294231 chr8 144887379 144887379 C T rs782812033 SCRIB Nonsynonymous SNV R858H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 294232 chr19 40363017 40363017 G A FCGBP Nonsynonymous SNV P5018L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.51 294233 chr8 144947015 144947015 G A EPPK1 Nonsynonymous SNV A136V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 294234 chr19 2834253 2834253 C T rs749993797 ZNF554 Synonymous SNV S340S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.49 294235 chr7 154379583 154379583 T C rs199849040 DPP6 Nonsynonymous SNV I284T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.803 294236 chr8 18729328 18729328 C A rs73202143 PSD3 Nonsynonymous SNV G316V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 15.86 294237 chr8 145001695 145001695 G A rs782293819 PLEC Synonymous SNV R1199R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.42 294238 chr19 32844471 32844471 C T rs145193065 ZNF507 Synonymous SNV Y245Y 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.523 294239 chr8 108264099 108264099 C T rs377442517 ANGPT1 Nonsynonymous SNV R294Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 294240 chr8 113518980 113518980 C T CSMD3 Nonsynonymous SNV R1482K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 294241 chr8 145741851 145741851 G A RECQL4 Stop gain Q218X 0 0 0.003 0 0 0 0 1 0 0 0 0 29 294242 chr19 42799306 42799306 C A rs747297469 CIC Nonsynonymous SNV P1597Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 294243 chr8 17447060 17447060 C T PDGFRL Nonsynonymous SNV P47S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 294244 chr8 17843119 17843119 T C PCM1 Synonymous SNV Y1369Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.423 294245 chr8 124663893 124663893 G T KLHL38 Nonsynonymous SNV A425E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 294246 chr8 8865518 8865518 A G rs779874713 ERI1 Synonymous SNV K49K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.833 294247 chr8 194674 194674 G A rs141732813 ZNF596 Synonymous SNV Q93Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.384 294248 chr8 126075884 126075884 G A WASHC5 Stop gain Q282X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 294249 chr8 20003274 20003276 CTA - rs771098915 SLC18A1 *494delinsQQKVLLEFMMPQ* 0 0 0.003 0 0 0 0 1 0 0 0 0 294250 chr8 10468794 10468794 C A rs772171734 RP1L1 Nonsynonymous SNV E938D 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 23 294251 chr8 10470691 10470691 C G rs761314438 RP1L1 Nonsynonymous SNV G306A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 1.797 294252 chr8 10480112 10480112 G A rs374460999 RP1L1 Synonymous SNV S200S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.21 294253 chr8 25154086 25154086 C T rs34576741 DOCK5 Synonymous SNV D176D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 294254 chr8 18076952 18076952 - C NAT1 Frameshift insertion W46Lfs*3 0 0 0.003 1 0 0 0.003 1 0 0 0 0 294255 chr8 29989909 29989909 G A rs16876562 MBOAT4 Synonymous SNV P286P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.078 294256 chr8 29994829 29994829 G C rs77583925 LEPROTL1 Nonsynonymous SNV E107D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.327 294257 chr19 804967 804972 GCCCTG - rs747794719 MIR4745 0 0 0.003 0 0 0 0 1 0 0 0 0 294258 chr19 39233142 39233142 C T rs139948605 CAPN12 Nonsynonymous SNV A112T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 294259 chr19 39998531 39998531 G T rs758939727 DLL3 Nonsynonymous SNV A579S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.8 294260 chr8 66631552 66631552 T C rs777931873 PDE7A Synonymous SNV L474L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.237 294261 chr8 67834874 67834874 T C rs745699174 SNHG6 0 0 0.003 0 0 0 0 1 0 0 0 0 2.289 294262 chr19 42797151 42797151 G C rs199995606 CIC Synonymous SNV R1171R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 2.486 294263 chr8 110455244 110455244 A C rs200174414 PKHD1L1 Nonsynonymous SNV H1488P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.507 294264 chr8 145773351 145773351 G A rs1002352263 ARHGAP39 Synonymous SNV L373L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.054 294265 chr8 8185504 8185504 C T rs370977684 PRAG1 Nonsynonymous SNV G930R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 294266 chr19 49983595 49983595 G A FLT3LG Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.509 294267 chr9 1056973 1056973 C T rs150135765 DMRT2 Synonymous SNV H288H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.22 294268 chr9 4118268 4118268 G T rs751660790 GLIS3 Nonsynonymous SNV Q249K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 294269 chr19 51135976 51135976 C T rs773513926 SYT3 Nonsynonymous SNV V81M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 294270 chr8 125565690 125565690 A G rs149463159 MTSS1 Nonsynonymous SNV I539T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 294271 chr9 13126739 13126739 T C rs199737503 MPDZ Synonymous SNV E1466E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.778 294272 chr8 142185493 142185493 C T rs768118828 DENND3 Nonsynonymous SNV R824C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 294273 chr9 100368498 100368498 A C rs777837523 TSTD2 Nonsynonymous SNV F294C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 294274 chr8 68956816 68956816 G A rs11784582 PREX2 Nonsynonymous SNV D312N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 294275 chr8 75233301 75233301 C T rs140365097 JPH1 Synonymous SNV V74V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.81 294276 chr9 108285419 108285419 T G rs144307638 RALGAPA1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.991 294277 chr9 108285447 108285447 T G rs995595500 RALGAPA1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.58 294278 chr9 112144049 112144049 G A rs749013475 PTPN3 Synonymous SNV T517T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 294279 chr8 90965627 90965627 C T rs72550742 NBN Nonsynonymous SNV E564K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 29.5 294280 chr8 144789955 144789955 G T CCDC166 Synonymous SNV R109R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.31 294281 chr9 37501762 37501762 A G rs765761897 POLR1E Nonsynonymous SNV I341V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 294282 chr9 71395920 71395920 A G rs370667386 FAM122A Synonymous SNV P280P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.634 294283 chr9 72071287 72071287 A G rs368416881 APBA1 Nonsynonymous SNV V555A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 294284 chr9 120475715 120475715 A G TLR4 Nonsynonymous SNV M237V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 294285 chr8 110598303 110598303 A G rs766837011 SYBU Synonymous SNV S42S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.014 294286 chr19 58324693 58324693 C T rs417518 ZNF552 Synonymous SNV T43T 0.003 0 0 0 3 0 0 0 0 0 0 0 11.61 294287 chr9 125033260 125033260 A G rs753037241 MRRF Synonymous SNV T30T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 294288 chr9 79325236 79325236 G A rs756849942 PRUNE2 Nonsynonymous SNV R652W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 294289 chr9 125617668 125617668 G C rs141237981 RC3H2 Nonsynonymous SNV D813E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.96 294290 chr1 1336198 1336198 A C rs756242570 MRPL20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.572 294291 chr19 55597526 55597526 G A rs140692049 EPS8L1 Nonsynonymous SNV R412Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.438 294292 chr19 55740103 55740103 C T rs117115360 TMEM86B Nonsynonymous SNV A3T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.296 294293 chr9 130943024 130943024 C G CIZ1 Nonsynonymous SNV E196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.14 294294 chr1 151020790 151020790 G T rs778359132 C1orf56 Nonsynonymous SNV R156L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.755 294295 chr1 151131659 151131659 T C rs759528394 TNFAIP8L2 Synonymous SNV P162P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.422 294296 chr9 133961020 133961020 G A rs753818876 LAMC3 Synonymous SNV A1380A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.42 294297 chr9 5465514 5465514 A T rs61752860 CD274 Nonsynonymous SNV H119L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 294298 chr9 134106026 134106026 C T rs369484391 NUP214 Synonymous SNV S854S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 294299 chr9 107331660 107331660 T G rs775497787 OR13C8 Nonsynonymous SNV V71G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 294300 chr8 143832532 143832532 T C LYPD2 Nonsynonymous SNV T39A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.59 294301 chr19 56739723 56739723 C G ZSCAN5A Nonsynonymous SNV G19R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.028 294302 chr9 35231199 35231199 G A UNC13B Stop gain W45X 0.001 0 0 1 1 0 0.003 0 0 0 0 0 39 294303 chr9 136220612 136220612 G A rs782614599 SURF1 Synonymous SNV T60T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 294304 chr19 57744963 57744963 A C AURKC Nonsynonymous SNV T191P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 294305 chr1 156220437 156220437 C T rs146548733 SMG5 Nonsynonymous SNV A945T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 294306 chr1 15635163 15635163 C T rs374360835 FHAD1 Nonsynonymous SNV R324W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 294307 chr1 1565692 1565692 - CCGCCC rs763730034 MIB2 P938_G939insAP 0 0 0.007 0 0 0 0 2 0 0 0 0 294308 chr19 58290735 58290735 G A rs956678112 ZNF586 Synonymous SNV R260R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 294309 chr9 116247957 116247957 A G rs777444265 RGS3 Nonsynonymous SNV R115G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 294310 chr1 15668288 15668288 G A rs943726679 FHAD1 Nonsynonymous SNV G655R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 294311 chr19 58864480 58864480 G A rs144181716 A1BG Nonsynonymous SNV H52Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.185 294312 chr9 32541729 32541729 G A TOPORS Stop gain Q867X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 294313 chr9 32541732 32541732 G A rs138093293 TOPORS Nonsynonymous SNV P866S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.52 294314 chr9 139752023 139752023 A T rs117487093 MAMDC4 Nonsynonymous SNV T771S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 294315 chr19 59022243 59022243 C T rs138318343 SLC27A5 Nonsynonymous SNV R164H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.58 294316 chr9 139912033 139912033 C T rs186256069 ABCA2 Nonsynonymous SNV G775S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 294317 chr9 117836132 117836132 G T TNC Synonymous SNV P988P 0.002 0 0 0 2 0 0 0 0 0 0 0 4.4 294318 chr9 79325870 79325870 C T rs200043637 PRUNE2 Synonymous SNV K440K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.1 294319 chr9 140167272 140167272 C G NELFB Synonymous SNV G593G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 294320 chr9 140201671 140201671 G A rs200971534 EXD3 Nonsynonymous SNV P788S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 294321 chr8 145579973 145579973 A T rs141500585 FBXL6 Nonsynonymous SNV D404E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 294322 chr1 160143913 160143913 C T ATP1A4 Synonymous SNV A668A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 294323 chr1 160793529 160793529 G A rs41266935 LY9 Synonymous SNV T501T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.254 294324 chr19 7964012 7964014 AGA - rs767882991 LRRC8E K74del 0.001 0 0 0 1 0 0 0 0 0 0 0 294325 chr9 125836662 125836662 C T rs779584114 RABGAP1 Synonymous SNV F736F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 294326 chr1 161068441 161068441 G A rs200214202 KLHDC9 Nonsynonymous SNV R39Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.03 294327 chr9 20716149 20716149 A G MIR491 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 294328 chr1 161771970 161771970 G C ATF6 Nonsynonymous SNV V273L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 294329 chr1 162353412 162353412 A G rs200599520 C1orf226 Nonsynonymous SNV Q253R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 294330 chr9 33443867 33443867 G A rs2228333 AQP3 Synonymous SNV A44A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.299 294331 chr19 889695 889695 G A rs747151607 MED16 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.455 294332 chr9 131343239 131343239 G C rs144590741 SPTAN1 Nonsynonymous SNV E454D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.82 294333 chr9 35737387 35737387 G A rs374335041 GBA2 Nonsynonymous SNV R855C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294334 chr9 95609488 95609488 G A rs765763272 ZNF484 Synonymous SNV S491S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.27 294335 chr1 169511460 169511460 A G rs149067268 F5 Synonymous SNV Y956Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.348 294336 chr9 3828356 3828356 G A rs137946889 GLIS3 Synonymous SNV S748S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.747 294337 chr19 580763 580763 T C BSG Nonsynonymous SNV I78T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 294338 chr1 171310884 171310884 T C FMO4 Nonsynonymous SNV L528P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 294339 chr9 114184305 114184305 G A ECPAS Nonsynonymous SNV L451F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 294340 chr9 134073656 134073656 G C rs28594669 NUP214 Nonsynonymous SNV G418A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.774 294341 chr9 113194232 113194232 A G rs375226683 SVEP1 Synonymous SNV C1772C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 294342 chr9 71395317 71395317 C G FAM122A Synonymous SNV R79R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.237 294343 chr9 72365755 72365755 T C rs374064241 PTAR1 Synonymous SNV P66P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.346 294344 chr9 123476543 123476545 CGG - rs769050959 MEGF9 A31del 0 0 0 1 0 0 0.003 0 0 0 0 0 294345 chr1 18023535 18023535 G A rs763490533 ARHGEF10L Nonsynonymous SNV R870H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 294346 chr9 95025311 95025311 G A rs781261186 IARS1 Nonsynonymous SNV T576M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.6 294347 chr9 115166290 115166290 T C rs200515989 HSDL2 Synonymous SNV C11C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.444 294348 chr9 115421979 115421979 A G KIAA1958 Nonsynonymous SNV Y594C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 294349 chr9 95888872 95888872 C T rs145421928 NINJ1 Nonsynonymous SNV A42T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 294350 chr9 96398752 96398752 G A rs141393410 PHF2 Nonsynonymous SNV V82M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 294351 chr9 116132226 116132226 A G BSPRY Nonsynonymous SNV H343R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 294352 chr9 139310819 139310819 A G rs762517111 PMPCA Synonymous SNV P72P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.031 294353 chr9 98677976 98677976 A G ERCC6L2 Nonsynonymous SNV D272G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 294354 chrM 932 932 G A RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 294355 chrX 100511250 100511250 G A rs780525649 DRP2 Nonsynonymous SNV R719Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294356 chrX 102983086 102983086 T A GLRA4 Nonsynonymous SNV T16S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.607 294357 chrX 109937495 109937495 C T rs11554172 CHRDL1 Nonsynonymous SNV R145H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 294358 chr1 18808277 18808277 G A rs375552768 KLHDC7A Nonsynonymous SNV V268I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.102 294359 chr9 117819647 117819647 T C rs200923690 TNC Nonsynonymous SNV N1455S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 2.777 294360 chrX 117680007 117680007 G A DOCK11 Synonymous SNV Q162Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.731 294361 chr1 109806727 109806727 G A rs764572183 CELSR2 Nonsynonymous SNV V1677M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 294362 chrX 118725230 118725230 G A rs199789706 NKRF Nonsynonymous SNV A53V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.929 294363 chr9 119903684 119903684 C T rs114459734 ASTN2 Synonymous SNV T363T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.46 294364 chr9 124044749 124044749 G A rs767523409 GSN Nonsynonymous SNV R7H 0 0.003 0 0 0 1 0 0 0 0 0 0 4.36 294365 chr9 123715044 123715044 G A C5 Synonymous SNV A1674A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.68 294366 chrX 130419806 130419806 C T rs146648451 IGSF1 Nonsynonymous SNV R96Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 294367 chr9 98766883 98766883 C T rs752260247 ERCC6L2 Nonsynonymous SNV P1203S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.71 294368 chr19 7911494 7911494 C T rs372779129 EVI5L Synonymous SNV S22S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.81 294369 chr9 133779436 133779455 ACAAGGTGCACCAGTCTAGC - rs769421737 FIBCD1 R461Pfs*34 0.003 0.003 0 1 4 1 0.003 0 0 0 0 0 294370 chrX 140994306 140994306 T A rs757190693 MAGEC1 Synonymous SNV P372P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 294371 chrX 140994326 140994326 C G rs760984005 MAGEC1 Nonsynonymous SNV P379R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 294372 chr19 8398677 8398677 C A KANK3 Synonymous SNV P550P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.68 294373 chr1 114372595 114372595 A C rs775349189 PTPN22 Nonsynonymous SNV S649A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 294374 chrX 151123279 151123279 C T rs80186670 GABRE Nonsynonymous SNV R472H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 294375 chr1 205073069 205073069 C T rs17854844 RBBP5 Synonymous SNV P146P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.76 294376 chrX 27480409 27480409 A C rs10521938 PPP4R3C Nonsynonymous SNV F335L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.145 294377 chrX 27480987 27480987 G C rs10521939 PPP4R3C Nonsynonymous SNV Q143E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.709 294378 chrX 27481342 27481342 G A rs777808766 PPP4R3C Synonymous SNV T24T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.838 294379 chr1 1269146 1269146 G A rs576045705 TAS1R3 Nonsynonymous SNV V621I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 294380 chr19 9058395 9058395 G T MUC16 Nonsynonymous SNV T9684N 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.01 294381 chr9 116930875 116930875 C T rs562109049 COL27A1 Nonsynonymous SNV T347M 0 0 0 1 0 0 0.003 0 0 0 0 0 7.174 294382 chr19 9067323 9067323 G A rs772086553 MUC16 Nonsynonymous SNV T6708I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.017 294383 chr1 220156158 220156158 G A rs772958189 EPRS Nonsynonymous SNV T1110I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 294384 chr10 28196642 28196642 C T rs371924761 ARMC4 Nonsynonymous SNV V379M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 294385 chrX 69496030 69496030 G A rs201248948 ARR3 Nonsynonymous SNV V82M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 294386 chrX 70886363 70886363 C T rs756609710 LOC100129291 0 0 0.007 0 0 0 0 2 0 0 0 0 0.04 294387 chr1 225340409 225340409 G A DNAH14 Nonsynonymous SNV G1674R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.397 294388 chrX 83390141 83390141 T C rs757658432 RPS6KA6 Synonymous SNV G193G 0 0 0.003 0 0 0 0 1 0 0 0 0 6 294389 chr9 127693619 127693619 G A rs763271118 GOLGA1 Nonsynonymous SNV R68W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 294390 chr1 171086509 171086509 G T FMO3 Nonsynonymous SNV C446F 0.003 0 0 0 3 0 0 0 0 0 0 0 0.003 294391 chr9 139752120 139752120 T C rs750423849 MAMDC4 Nonsynonymous SNV M779T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.1 294392 chr1 154931509 154931509 G A rs755541528 PYGO2 Nonsynonymous SNV P323S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 294393 chr1 228537608 228537608 G A rs375733623 OBSCN Nonsynonymous SNV V6056M 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 294394 chr9 131480843 131480843 T C PKN3 Synonymous SNV D688D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.142 294395 chr9 133805329 133805329 C T FIBCD1 Synonymous SNV A59A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.42 294396 chr9 134050891 134050891 A T rs777544652 NUP214 Nonsynonymous SNV T1058S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 294397 chr10 70450707 70450707 C T TET1 Synonymous SNV S1849S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 294398 chr10 5952926 5952926 C T rs374655960 FBH1 Nonsynonymous SNV A275V 0 0.003 0 0 0 1 0 0 0 0 0 0 26 294399 chr1 182909572 182909572 T A rs766988853 SHCBP1L Nonsynonymous SNV D221V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.2 294400 chr1 183077455 183077455 G C rs73053839 LAMC1 Synonymous SNV L256L 0.003 0 0 0 3 0 0 0 0 0 0 0 11.53 294401 chr10 16911671 16911671 C T rs148491916 CUBN Nonsynonymous SNV A3140T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 294402 chr10 75239204 75239204 C G rs200220236 PPP3CB Nonsynonymous SNV D53H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 294403 chr1 242122099 242122099 A G rs1056577028 BECN2 Nonsynonymous SNV N344S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.013 294404 chr1 24447837 24447837 T G IL22RA1 Nonsynonymous SNV T395P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.897 294405 chr1 245704236 245704236 C G KIF26B Nonsynonymous SNV T445S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 294406 chr10 127344708 127344708 T A TEX36 Nonsynonymous SNV N108Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 294407 chr1 196642262 196642262 G A CFH Stop gain W71X 0.003 0 0 0 3 0 0 0 0 0 0 0 27.4 294408 chr1 161128249 161128249 C T rs369785657 UFC1 Synonymous SNV G157G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 294409 chr1 161179975 161179975 G A rs763804955 NDUFS2 Synonymous SNV E259E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 294410 chr10 133607977 133607977 C A rs557412594 LINC01164 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 294411 chr10 31812946 31812946 T G rs777824092 ZEB1 Nonsynonymous SNV M822R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 294412 chr9 140136409 140136409 C T rs201576230 TUBB4B Synonymous SNV G71G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.529 294413 chr10 96798739 96798739 A G rs759849180 CYP2C8 Synonymous SNV P300P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.057 294414 chr10 14816328 14816328 A G rs201053856 FAM107B Nonsynonymous SNV L112P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.031 294415 chr10 98762036 98762036 G A rs201999932 SLIT1 Synonymous SNV A1415A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.017 294416 chr1 171605702 171605702 G T rs139122673 MYOC Nonsynonymous SNV T293K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 9.432 294417 chr10 19493843 19493843 C T rs897953290 MALRD1 Synonymous SNV L743L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 294418 chr10 19494044 19494044 C T rs932490744 MALRD1 Stop gain R810X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 294419 chr10 24762543 24762543 T C rs780473692 KIAA1217 Synonymous SNV G129G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 294420 chr1 28148759 28148759 G A STX12 Synonymous SNV K250K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 294421 chr1 2939046 2939046 C T rs771750991 ACTRT2 Nonsynonymous SNV P266S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 294422 chr10 28409294 28409294 T A rs766806940 MPP7 Nonsynonymous SNV Y239F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 294423 chr10 17737107 17737107 C G rs782244307 STAM Nonsynonymous SNV P102A 0 0 0 1 0 0 0.003 0 0 0 0 0 26 294424 chr10 78761251 78761251 C T rs77395356 KCNMA1 Nonsynonymous SNV R727H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.78 294425 chr10 70405498 70405498 T C TET1 Synonymous SNV S1004S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 294426 chr1 18618364 18618364 C T rs377482671 IGSF21 Nonsynonymous SNV T63M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 294427 chr10 86012747 86012747 G T rs149516779 RGR Nonsynonymous SNV D165Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 294428 chr10 118616140 118616140 C T rs768385505 ENO4 Synonymous SNV H144H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.068 294429 chr10 5242249 5242249 G A AKR1C4 Nonsynonymous SNV A64T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 294430 chr10 71880301 71880301 T C rs139479025 AIFM2 Nonsynonymous SNV M157V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.81 294431 chr1 223284994 223284994 G A rs760375542 TLR5 Synonymous SNV F460F 0.003 0 0 0 3 0 0 0 0 0 0 0 2.789 294432 chr10 5789011 5789011 A G rs375311569 TASOR2 Synonymous SNV S1128S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.394 294433 chr10 61412614 61412614 G A rs201663287 SLC16A9 Synonymous SNV A395A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 294434 chr10 61413832 61413832 T C rs199889507 SLC16A9 Nonsynonymous SNV I231V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.129 294435 chr1 45799120 45799120 C T rs587780746 MUTYH Nonsynonymous SNV D91N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 294436 chr10 74810881 74810881 C T P4HA1 Nonsynonymous SNV G277E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 11.46 294437 chr10 84118519 84118519 G A rs749884304 NRG3 Nonsynonymous SNV R283Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 294438 chr1 46496875 46496875 G A rs368847255 MAST2 Nonsynonymous SNV V969I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 294439 chr10 129676596 129676596 C T rs115968207 CLRN3 Synonymous SNV P166P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 294440 chr10 76995442 76995442 T C rs200334065 COMTD1 Nonsynonymous SNV S52G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.16 294441 chr10 88451779 88451779 T C rs1012940823 LDB3 Synonymous SNV S272S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.718 294442 chr10 50105546 50105546 C T rs747529979 WDFY4 Nonsynonymous SNV T2455I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 294443 chr1 228402663 228402663 C T rs141857686 OBSCN Synonymous SNV H564H 0.004 0 0 0 5 0 0 0 0 0 0 0 9.735 294444 chr1 52940630 52940630 G A rs150767107 TUT4 Synonymous SNV T867T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.579 294445 chr1 53351522 53351522 T C rs183539585 ZYG11A Synonymous SNV N312N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.167 294446 chr10 75407402 75407402 A T SYNPO2L Nonsynonymous SNV S446T 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 15.41 294447 chr1 228497194 228497194 G A OBSCN Nonsynonymous SNV E4316K 0.004 0 0 0 5 0 0 0 0 0 0 0 26.4 294448 chr10 75557052 75557053 AT - ZSWIM8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 294449 chr10 7780628 7780628 T C rs140708596 ITIH2 Nonsynonymous SNV S668P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.114 294450 chr11 199964 199964 C T rs79045016 ODF3 Synonymous SNV C185C 0.002 0 0 0 2 0 0 0 0 0 0 0 15.99 294451 chr1 55680621 55680621 T C USP24 Nonsynonymous SNV M56V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.544 294452 chr10 69948838 69948838 T G rs146028308 MYPN Synonymous SNV S960S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 3.995 294453 chr10 88722731 88722731 G T rs374301169 SNCG Nonsynonymous SNV G125W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 294454 chr10 70405855 70405855 A T rs3998860 TET1 Synonymous SNV I1123I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 294455 chr10 99258136 99258136 G C rs768525756 MMS19 Synonymous SNV A2A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.132 294456 chr1 207499062 207499062 A G rs765300495 CD55 Nonsynonymous SNV T192A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 294457 chr1 20977265 20977265 - AGTC PINK1-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 294458 chr1 70478743 70478743 A G LRRC7 Synonymous SNV K408K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.911 294459 chr1 214795586 214795586 G A rs375201684 CENPF Nonsynonymous SNV V344M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 294460 chr10 75671330 75671330 C A rs371106595 PLAU Nonsynonymous SNV A6E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.5 294461 chr1 21562418 21562418 G A rs374765464 ECE1 Synonymous SNV A485A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.502 294462 chr1 217793604 217793604 T C GPATCH2 Synonymous SNV E98E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.062 294463 chr11 102712901 102712901 C T MMP3 Stop gain W203X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 294464 chr1 92642778 92642778 A G KIAA1107 Synonymous SNV L163L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.747 294465 chr1 2238036 2238036 G A SKI Synonymous SNV K673K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.927 294466 chr1 94953137 94953137 A G rs564987217 ABCD3 Nonsynonymous SNV M313V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 294467 chr1 977538 977538 G A rs753038414 AGRN Synonymous SNV P460P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.326 294468 chr1 203024587 203024587 G A rs761738327 PPFIA4 Synonymous SNV T619T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.5 294469 chr20 10032524 10032524 G A rs780084620 ANKEF1 Synonymous SNV L619L 0 0 0.003 0 0 0 0 1 0 0 0 0 11 294470 chr1 228459771 228459771 C T rs548456456 OBSCN Synonymous SNV D1945D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 294471 chr10 131671751 131671751 G A EBF3 Nonsynonymous SNV P249L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 294472 chr11 113846111 113846111 G T HTR3A Stop gain E22X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 294473 chr10 134672690 134672690 A G rs574805641 CFAP46 Nonsynonymous SNV S1754P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.825 294474 chr11 2924526 2924526 C T rs200035252 SLC22A18 Nonsynonymous SNV P69L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.862 294475 chr1 233121846 233121846 C G PCNX2 Nonsynonymous SNV A2078P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 294476 chr11 118184439 118184439 G A CD3E Nonsynonymous SNV E124K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 294477 chr1 234367451 234367451 A G rs376693980 SLC35F3 Nonsynonymous SNV K122R 0.001 0 0 0 1 0 0 0 0 0 0 0 21 294478 chr10 104489532 104489535 CTAA - rs764672564 SFXN2 N188Vfs*6 0 0 0 1 0 0 0.003 0 0 0 0 0 294479 chr11 279491 279491 C T NLRP6 Nonsynonymous SNV A65V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 294480 chr1 31414078 31414078 G A rs142318461 PUM1 Synonymous SNV H1054H 0.003 0 0 0 3 0 0 0 0 0 0 0 10.64 294481 chr1 21009279 21009279 C T rs148629128 KIF17 Nonsynonymous SNV R777H 0.004 0 0 0 5 0 0 0 0 0 0 0 33 294482 chr11 121348842 121348842 G A rs140888526 SORL1 Nonsynonymous SNV D140N 0 0 0.007 0 0 0 0 2 0 0 0 0 27.7 294483 chr10 106130723 106130723 A G CFAP58 Nonsynonymous SNV H334R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.12 294484 chr1 23757586 23757586 G A rs749012817 ASAP3 Nonsynonymous SNV A851V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 294485 chr11 123900730 123900730 T C rs199954014 OR10G8 Nonsynonymous SNV M134T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.17 294486 chr20 2945811 2945811 C T PTPRA Synonymous SNV S126S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 294487 chr1 22175259 22175259 G A rs767742916 HSPG2 Synonymous SNV I2539I 0.004 0 0 0 5 0 0 0 0 0 0 0 15.89 294488 chr1 38186141 38186141 C T EPHA10 Nonsynonymous SNV G765D 0.003 0 0 0 3 0 0 0 0 0 0 0 29.6 294489 chr20 31954786 31954786 T C rs766606937 CDK5RAP1 Nonsynonymous SNV D397G 0 0 0.003 0 0 0 0 1 0 0 0 0 30 294490 chr20 32255406 32255406 G A rs763285000 ACTL10 Nonsynonymous SNV G35S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 294491 chr11 128786528 128786528 G T rs764499695 KCNJ5 Nonsynonymous SNV G388C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 294492 chr20 34152789 34152789 C T rs180750081 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 6.85 294493 chr20 34535526 34535526 A C PHF20 Nonsynonymous SNV I1006L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 294494 chr10 129245764 129245764 C A DOCK1 Nonsynonymous SNV D1840E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.714 294495 chr11 18108770 18108770 G C rs200054814 SAAL1 Nonsynonymous SNV S258C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 294496 chr10 135107203 135107203 G A rs41283321 TUBGCP2 Synonymous SNV D99D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.091 294497 chr1 27087493 27087493 G T rs150235028 ARID1A Synonymous SNV L689L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.872 294498 chr11 2591984 2591984 G A rs199472702 KCNQ1 Nonsynonymous SNV D202N 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 34 294499 chr11 14899686 14899686 G C CYP2R1 Nonsynonymous SNV I496M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 294500 chr1 66102488 66102488 C G LEPR Nonsynonymous SNV D1096E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 294501 chr11 47296702 47296702 C T rs574352608 MADD Synonymous SNV G217G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 294502 chr11 48267142 48267142 C A rs145544830 OR4X2 Nonsynonymous SNV P163T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 294503 chr1 74797161 74797161 G A rs775932123 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV A158T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 294504 chr20 61944216 61944219 CCGC - COL20A1 A669Efs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 294505 chr20 61944221 61944222 GC - COL20A1 A671Pfs*57 0 0 0.003 0 0 0 0 1 0 0 0 0 294506 chr20 61944224 61944224 C A COL20A1 Nonsynonymous SNV P672T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.534 294507 chr20 61981102 61981102 G A rs56000199 CHRNA4 Nonsynonymous SNV P554L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.012 294508 chr1 38269989 38269989 A C YRDC Nonsynonymous SNV I251S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 294509 chr1 38269990 38269990 T C YRDC Nonsynonymous SNV I251V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 294510 chr1 247614775 247614775 C T OR2B11 Synonymous SNV L170L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.078 294511 chr1 78481840 78481840 G A DNAJB4 Nonsynonymous SNV G193D 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 294512 chr1 247695413 247695413 G A rs138735337 OR2C3 Nonsynonymous SNV T134I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 294513 chr20 62594738 62594738 C T rs759409924 ZNF512B Nonsynonymous SNV R585H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 294514 chr11 33731837 33731837 G A rs2231460 CD59 Synonymous SNV D74D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.208 294515 chr11 5878168 5878168 G T rs118191800 OR52E8 Synonymous SNV A255A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.574 294516 chr1 43394886 43394886 C T rs749426767 SLC2A1 Nonsynonymous SNV V323M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 294517 chr11 6245447 6245447 C T rs772187451 FAM160A2 Nonsynonymous SNV R57Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 294518 chr11 46341946 46341946 C T rs35636632 CREB3L1 Nonsynonymous SNV R464W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 294519 chr11 46671756 46671756 C T rs145889337 ATG13 Nonsynonymous SNV T37M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 294520 chr1 45475709 45475709 G A rs201251766 HECTD3 Synonymous SNV N236N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.976 294521 chr21 32526726 32526726 C G TIAM1 Nonsynonymous SNV A37P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 294522 chr11 4566795 4566795 C T rs183265538 OR52M1 Synonymous SNV Y125Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.648 294523 chr1 2938802 2938802 G T ACTRT2 Synonymous SNV V184V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.355 294524 chr11 9829527 9829527 C T rs370632930 SBF2-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.681 294525 chr21 44324289 44324289 C T rs374566643 NDUFV3 Synonymous SNV H389H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.774 294526 chr21 45750769 45750769 C T rs746856287 CFAP410 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 294527 chr21 45950988 45950988 G - TSPEAR L191Cfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 294528 chr21 48064346 48064346 C T rs201784550 PRMT2 Synonymous SNV Y91Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.921 294529 chr11 6238922 6238922 G A rs561748424 FAM160A2 Nonsynonymous SNV P632S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.076 294530 chr1 76387814 76387814 A G rs777844805 ASB17 Nonsynonymous SNV L211S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 294531 chr1 8075369 8075369 A C rs747808154 ERRFI1 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.198 294532 chr22 21107208 21107208 T C rs146858855 PI4KA Synonymous SNV L968L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.831 294533 chr11 5878890 5878890 G T rs371540443 OR52E8 Nonsynonymous SNV P15T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 294534 chr1 48865097 48865097 G A rs756779840 SPATA6 Nonsynonymous SNV R222W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 294535 chr22 24567828 24567828 G A rs764100528 CABIN1 Nonsynonymous SNV A1919T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 294536 chr11 60899434 60899434 G A VPS37C Nonsynonymous SNV P309L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 294537 chr11 61917552 61917552 G C rs61893682 INCENP Nonsynonymous SNV Q801H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 23.9 294538 chr22 31685576 31685576 A G PIK3IP1 Synonymous SNV A139A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.579 294539 chr1 94502328 94502328 G A rs374565343 ABCA4 Nonsynonymous SNV T1277M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 294540 chr1 979058 979058 G A rs141661464 AGRN Nonsynonymous SNV V582M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 294541 chr1 981222 981222 C T rs376524541 AGRN Synonymous SNV D882D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 294542 chr11 63177281 63177281 G T SLC22A9 Nonsynonymous SNV D537Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.18 294543 chr11 64802332 64802332 C G SNX15 Synonymous SNV A90A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.544 294544 chr22 38246027 38246027 T C rs368493468 EIF3L Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.845 294545 chr11 64368973 64368973 G A rs199535450 SLC22A12 Nonsynonymous SNV A430T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.625 294546 chr11 28110135 28110135 C A KIF18A Nonsynonymous SNV G278V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 294547 chr20 18790747 18790747 G A rs764176024 C20orf78 0.001 0 0 0 1 0 0 0 0 0 0 0 0.339 294548 chr11 65360681 65360681 C T KCNK7 Nonsynonymous SNV G240D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 294549 chr11 65637440 65637440 G A rs760174107 EFEMP2 Synonymous SNV N205N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 294550 chr20 58644961 58644961 G A C20orf197 0.003 0 0 0 4 0 0 0 0 0 0 0 5.544 294551 chr11 46406991 46406991 C A CHRM4 Nonsynonymous SNV V373L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 294552 chr11 47356628 47356628 G C rs193922380 MYBPC3 Nonsynonymous SNV T957S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.372 294553 chr20 31023323 31023323 C A rs894754780 ASXL1 Synonymous SNV T875T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 294554 chr20 20020386 20020386 A G rs764813236 CRNKL1 Nonsynonymous SNV F471S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 294555 chr11 47843348 47843348 G A NUP160 Nonsynonymous SNV T402I 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 294556 chr11 70338440 70338440 G A rs370602260 SHANK2 Synonymous SNV N225N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.011 294557 chr1 9416013 9416013 C T rs372997486 SPSB1 Synonymous SNV P21P 0.003 0 0 1 3 0 0.003 0 0 0 0 0 10.75 294558 chr11 72398516 72398516 G A rs762324064 ARAP1 Nonsynonymous SNV R1068W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 294559 chr11 73716809 73716809 G A rs376848921 UCP3 Synonymous SNV I169I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 294560 chr11 74716503 74716503 C T rs199990681 NEU3 Nonsynonymous SNV S47L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 294561 chr11 62655957 62655957 G A rs143377797 SLC3A2 Nonsynonymous SNV R461H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 294562 chr20 34572591 34572591 G A rs750702259 CNBD2 Nonsynonymous SNV V203I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 294563 chr20 35444339 35444339 G A rs771005322 SOGA1 Synonymous SNV G502G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.39 294564 chr11 77835229 77835229 G A rs748962880 ALG8 Nonsynonymous SNV P69L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 294565 chr11 64331830 64331830 A G rs142027244 SLC22A11 Nonsynonymous SNV Q291R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 294566 chr11 61914294 61914294 G C rs374721937 INCENP Synonymous SNV R704R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.201 294567 chr20 44048216 44048216 C T rs559812381 PIGT Nonsynonymous SNV R121C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 294568 chr11 65414535 65414535 A C rs573308013 SIPA1 Nonsynonymous SNV Q677P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 294569 chr20 4837785 4837785 C T rs201154524 SLC23A2 Nonsynonymous SNV D596N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 294570 chr2 152321848 152321848 T A rs139052966 RIF1 Synonymous SNV S1938S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.601 294571 chr11 64573828 64573828 C T rs746505147 MEN1 Nonsynonymous SNV A314T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 294572 chr11 103106418 103106418 G C rs758118161 DYNC2H1 Nonsynonymous SNV E3195D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.65 294573 chr11 9803095 9803095 T C rs755264093 SBF2 Nonsynonymous SNV M1804V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 7.939 294574 chr11 67203762 67203762 C T rs370854668 PTPRCAP Synonymous SNV S21S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 11.59 294575 chr11 65309147 65309147 G A rs768607021 LTBP3 Synonymous SNV C883C 0 0.005 0 0 0 2 0 0 0 0 0 0 2.694 294576 chr11 71943374 71943374 C T rs141305290 INPPL1 Nonsynonymous SNV T569M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 27 294577 chr20 57562859 57562859 C G rs202039877 NELFCD Nonsynonymous SNV T128S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.448 294578 chr11 73022096 73022096 C G rs146497753 ARHGEF17 Nonsynonymous SNV Q805E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.482 294579 chr11 113631623 113631623 G A rs113446038 ZW10 Synonymous SNV H86H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 294580 chr2 168100087 168100087 G A rs370504310 XIRP2 Nonsynonymous SNV V507I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 294581 chr12 107075874 107075874 A G rs200667832 LOC100505978 0 0 0.003 0 0 0 0 1 0 0 0 0 8.92 294582 chr11 67200487 67200487 C T rs375771224 RPS6KB2 Synonymous SNV H227H 0 0.005 0 0 0 2 0 0 0 0 0 0 10.64 294583 chr11 116692203 116692203 C T rs145898188 APOA4 Nonsynonymous SNV D191N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 294584 chr11 56954921 56954921 C G rs142633236 LRRC55 Synonymous SNV R288R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 294585 chr11 118971784 118971784 A G DPAGT1 Nonsynonymous SNV F76L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 294586 chr2 179396133 179396133 G A rs770922693 TTN Nonsynonymous SNV T26005I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.81 294587 chr11 58920855 58920855 A G FAM111A Nonsynonymous SNV I572V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.403 294588 chr20 45905111 45905111 G A rs748590284 ZMYND8 Nonsynonymous SNV S451L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 294589 chr11 72946122 72946122 C - P2RY2 F307Sfs*43 0.003 0.003 0 0 3 1 0 0 0 0 0 0 294590 chr11 59421461 59421461 A G rs763673758 PATL1 Synonymous SNV N372N 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.912 294591 chr11 123676347 123676347 G A rs762758153 OR6M1 Synonymous SNV T237T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.618 294592 chr2 186665177 186665177 C T rs189766837 FSIP2 Nonsynonymous SNV T3715M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.043 294593 chr20 62700826 62700826 G A rs369157867 TCEA2 Nonsynonymous SNV A148T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.891 294594 chr11 124764220 124764220 C T ROBO4 Nonsynonymous SNV V254I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 294595 chr11 62494700 62494700 - CGC rs199865096 HNRNPUL2-BSCL2 0 0 0 1 0 0 0.003 0 0 0 0 0 294596 chr2 201761827 201761827 G A rs189436612 NIF3L1 Nonsynonymous SNV R252Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 294597 chr21 32119417 32119417 G T KRTAP21-2 Nonsynonymous SNV S35Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 294598 chr11 92600058 92600058 A G FAT3 Nonsynonymous SNV Y3937C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 294599 chr11 94203673 94203673 T C rs587782569 MRE11 Synonymous SNV K327K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 9.686 294600 chr11 64622291 64622291 C T rs749125705 EHD1 Synonymous SNV A373A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.81 294601 chr12 133446346 133446346 G A rs746187833 CHFR Nonsynonymous SNV R160W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 294602 chr2 214182094 214182094 T A rs767048842 SPAG16 X184K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 294603 chr11 65417482 65417482 C T SIPA1 Synonymous SNV A936A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.247 294604 chr12 22035739 22035739 C T ABCC9 Synonymous SNV R660R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 294605 chr12 25236416 25236416 A G rs767717485 LRMP Nonsynonymous SNV I102V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 294606 chr20 741706 741706 C G SLC52A3 Synonymous SNV S458S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 294607 chr11 121393329 121393329 G A rs757953032 SORL1 Nonsynonymous SNV R480H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 294608 chr2 219507148 219507148 G C rs200075933 ZNF142 Nonsynonymous SNV P1364R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 294609 chr12 7053007 7053007 T C rs185860337 RNU7-1 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 294610 chr2 219513513 219513513 C T rs139412557 ZNF142 Nonsynonymous SNV R373H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 294611 chr11 66616376 66616376 G A rs144982348 PC Synonymous SNV I1177I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.29 294612 chr11 67925189 67925191 CTC - KMT5B R704del 0 0 0 1 0 0 0.003 0 0 0 0 0 294613 chr12 41966268 41966268 C A rs150680549 PDZRN4 Synonymous SNV R305R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 294614 chr12 43944941 43944941 G C rs776875165 ADAMTS20 Nonsynonymous SNV P75R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 294615 chr11 68840440 68840440 A G rs150812128 TPCN2 Nonsynonymous SNV N401D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 294616 chr11 70013406 70013406 G A rs376287667 ANO1 Nonsynonymous SNV E704K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 294617 chr11 71155233 71155233 C T rs200984695 DHCR7 Nonsynonymous SNV V43I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.252 294618 chr12 49176452 49176452 G A rs774225754 ADCY6 Nonsynonymous SNV R256C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 294619 chr11 121008316 121008316 A C TECTA Nonsynonymous SNV H1043P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 20.4 294620 chr11 76796019 76796019 C - rs781925553 CAPN5 L31Sfs*132 0 0 0 1 0 0 0.003 0 0 0 0 0 294621 chr22 21133988 21133988 A G SERPIND1 Nonsynonymous SNV N130D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 294622 chr22 21153416 21153416 T C PI4KA Nonsynonymous SNV I635V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.381 294623 chr12 5020825 5020825 A G rs370669088 KCNA1 Nonsynonymous SNV Y94C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 294624 chr12 51422006 51422006 C T SLC11A2 Star tloss M1? 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.89 294625 chr2 233406100 233406100 G A rs199937736 CHRNG Nonsynonymous SNV E123K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.1 294626 chr11 78285406 78285406 C A rs199706625 NARS2 Nonsynonymous SNV R43L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 294627 chr11 128426196 128426196 G A ETS1 Synonymous SNV H68H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 294628 chr2 236424699 236424699 - CTGCTG rs368215040 TNRC17 0 0 0.003 0 0 0 0 1 0 0 0 0 294629 chr11 128710104 128710104 C T rs566704910 KCNJ1 Nonsynonymous SNV R31H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.071 294630 chr22 24837087 24837087 A T rs202222894 ADORA2A Nonsynonymous SNV Y290F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.92 294631 chr12 53566222 53566222 T C rs71455241 CSAD 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.2 294632 chr11 102647447 102647447 G A MMP10 Nonsynonymous SNV S228L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 294633 chr12 56536450 56536450 C T rs150505165 ESYT1 Nonsynonymous SNV S951L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.607 294634 chr12 57112735 57112735 G C rs200685659 NACA Nonsynonymous SNV S860C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 294635 chr12 57114695 57114695 A G rs201259322 NACA Nonsynonymous SNV C207R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.481 294636 chr22 31654313 31654313 C T rs762936706 LIMK2 Synonymous SNV Y30Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.976 294637 chr22 32218691 32218691 C G rs372975881 DEPDC5 Synonymous SNV S645S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.26 294638 chr22 32266611 32266611 C T rs375702574 DEPDC5 Synonymous SNV D1022D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.03 294639 chr12 13103264 13103264 C T rs377647570 GPRC5D Nonsynonymous SNV E19K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.8 294640 chr2 26750773 26750773 C T rs199992845 OTOF Nonsynonymous SNV V52M 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 24.7 294641 chr22 37414189 37414189 C T rs752587386 TST Synonymous SNV P195P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 294642 chr12 52680161 52680161 C T rs965450179 KRT81 Nonsynonymous SNV G466S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 294643 chr2 27680766 27680766 C T rs375879787 IFT172 Nonsynonymous SNV R1018H 0 0 0.003 0 0 0 0 1 0 0 0 0 28 294644 chr2 28824173 28824173 G A rs139909025 PLB1 Nonsynonymous SNV D850N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 294645 chr2 29246048 29246048 G A rs189864346 TOGARAM2 Synonymous SNV V481V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 294646 chr12 52967560 52967568 ATGGTGGGA - KRT74 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 294647 chr12 66850049 66850049 G A GRIP1 Synonymous SNV N372N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.495 294648 chr12 6708966 6708966 G A rs746108222 CHD4 Synonymous SNV N478N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 294649 chr2 32733313 32733313 G T rs758763656 BIRC6 Nonsynonymous SNV V3323L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 294650 chr12 70150363 70150363 C T rs375092922 RAB3IP Nonsynonymous SNV R144C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 34 294651 chr12 71971724 71971724 A G rs762357805 LGR5 Nonsynonymous SNV I386V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 294652 chr22 42190452 42190452 A G rs373009882 MEI1 Nonsynonymous SNV R1169G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 294653 chr22 42607817 42607817 C T rs17002890 TCF20 Nonsynonymous SNV M1165I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 294654 chr22 42609872 42609872 A C rs17002894 TCF20 Synonymous SNV T480T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 294655 chr22 42611174 42611174 G A rs61745937 TCF20 Synonymous SNV G46G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.264 294656 chr22 42981908 42981908 G A POLDIP3 Synonymous SNV S356S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.283 294657 chr22 30921913 30921913 C T SEC14L6 Stop gain W224X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 294658 chr12 80707371 80707371 A G rs200392453 OTOGL Nonsynonymous SNV Q1180R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 27.7 294659 chr12 82824681 82824681 A G METTL25 Nonsynonymous SNV Q343R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.44 294660 chr12 58122018 58122018 C T AGAP2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 294661 chr11 124500746 124500748 CAT - TBRG1 I315del 0 0 0 1 0 0 0.003 0 0 0 0 0 294662 chr2 69267189 69267189 C T rs201515528 ANTXR1 Synonymous SNV L56L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 294663 chr2 73492586 73492586 C T rs200871330 FBXO41 Nonsynonymous SNV R463Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 294664 chr2 73492729 73492729 G A rs763008438 FBXO41 Synonymous SNV G415G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.04 294665 chr2 74730219 74730219 G A rs866240783 LBX2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 294666 chr2 74757460 74757460 G A rs767562490 HTRA2 Synonymous SNV V109V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.688 294667 chr12 80940351 80940351 A G rs769149889 PTPRQ Nonsynonymous SNV K1125R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 294668 chr12 81051795 81051795 C T rs780203002 PTPRQ Synonymous SNV D1877D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 294669 chr22 51158856 51158856 G A rs758217731 SHANK3 Synonymous SNV A926A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.07 294670 chr2 88478528 88478528 T C rs758196954 THNSL2 Synonymous SNV L108L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.525 294671 chr12 3649785 3649785 C A rs370164959 PRMT8 Nonsynonymous SNV P21H 0 0 0.003 2 0 0 0.005 1 0 0 0 1 25.3 294672 chr12 3757761 3757761 C T rs561395966 CRACR2A Synonymous SNV T355T 0 0 0.003 2 0 0 0.005 1 0 0 0 1 10.62 294673 chr2 98460627 98460627 T C rs775429376 TMEM131 Nonsynonymous SNV H194R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 294674 chr3 101060514 101060514 A G rs768921072 SENP7 Nonsynonymous SNV V575A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 294675 chr2 109746099 109746099 G A rs762289531 SH3RF3 Nonsynonymous SNV A35T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 294676 chr13 28366870 28366870 G A GSX1 Nonsynonymous SNV A15T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.583 294677 chr12 6687658 6687658 G T rs771213563 CHD4 Nonsynonymous SNV T1672N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.38 294678 chr12 6933534 6933536 ACA - rs781984772 GPR162 N159del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 294679 chr3 108746735 108746735 A C rs756823354 MORC1 Nonsynonymous SNV C523G 0 0 0.007 0 0 0 0 2 0 0 0 0 24.5 294680 chr12 109577764 109577764 G A rs147024369 ACACB Nonsynonymous SNV R185H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 20.1 294681 chr12 7842940 7842940 - T GDF3 Frameshift insertion R210Kfs*10 0 0 0.003 1 0 0 0.003 1 0 0 0 0 294682 chr12 65564145 65564145 A G LEMD3 Nonsynonymous SNV N257D 0.001 0 0 3 1 0 0.008 0 0 0 0 0 0.121 294683 chr12 112441662 112441662 A G rs776476101 TMEM116 Nonsynonymous SNV I7T 0.002 0 0 0 2 0 0 0 0 0 0 0 17.74 294684 chr13 41767857 41767857 A C KBTBD7 Nonsynonymous SNV F179L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 294685 chr2 120020634 120020634 C T rs201774653 STEAP3 Nonsynonymous SNV S396F 0.001 0 0 0 1 0 0 0 0 0 0 0 29 294686 chr13 44734907 44734907 C T SMIM2 Nonsynonymous SNV G29S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 294687 chr12 120171994 120171994 T A rs758719033 CIT Nonsynonymous SNV M1067L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 294688 chr12 52214890 52214890 C T rs773593313 FIGNL2 Synonymous SNV A436A 0.003 0 0 0 3 0 0 0 0 0 0 0 4.784 294689 chr12 121432033 121432033 G A rs749633685 HNF1A Synonymous SNV T260T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.77 294690 chr2 131522118 131522118 G A rs754291054 AMER3 Nonsynonymous SNV V825I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 294691 chr13 52951957 52951957 A T rs370923980 THSD1 Nonsynonymous SNV S663R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 294692 chr2 133541427 133541427 G A rs771209317 NCKAP5 Nonsynonymous SNV P986L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.17 294693 chr13 53624677 53624677 T C rs777742482 OLFM4 Nonsynonymous SNV M435T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 294694 chr13 73301702 73301702 - GCC rs748174456 MZT1 A16_N17insA 0 0 0.003 0 0 0 0 1 0 0 0 0 294695 chr2 197943495 197943495 G A ANKRD44 Nonsynonymous SNV R528W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 294696 chr12 96402880 96402880 A G rs758902617 LTA4H Nonsynonymous SNV W476R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 294697 chr12 122862439 122862439 C T rs946137299 CLIP1 Nonsynonymous SNV E52K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 294698 chr13 99483747 99483747 C T DOCK9 Nonsynonymous SNV C1478Y 0 0 0.007 0 0 0 0 2 0 0 0 0 27.3 294699 chr2 103431277 103431277 C T TMEM182 Synonymous SNV Y38Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 294700 chr12 104033987 104033987 G A rs200956819 STAB2 Synonymous SNV P331P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.208 294701 chr2 207172675 207172675 G T rs749234711 ZDBF2 Synonymous SNV G1141G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.964 294702 chr12 22199438 22199438 G C rs780133752 CMAS Synonymous SNV A67A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 294703 chr3 130300513 130300513 G A rs141159632 COL6A6 Nonsynonymous SNV R1219H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 294704 chr2 216247026 216247026 T C FN1 Synonymous SNV E1600E 0.002 0 0 0 2 0 0 0 0 0 0 0 4.082 294705 chr2 167168138 167168138 A G rs200826539 SCN9A Synonymous SNV D43D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.162 294706 chr2 171573623 171573623 C A rs151104583 SP5 Synonymous SNV G302G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 294707 chr14 23235948 23235948 T C rs370840535 OXA1L Nonsynonymous SNV L13P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 294708 chr12 49237748 49237748 G A rs377341662 DDX23 Nonsynonymous SNV R99W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 294709 chr3 14523296 14523296 G A rs41284017 SLC6A6 Nonsynonymous SNV V557I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.226 294710 chr12 50745863 50745863 - CTGCTGAAGGGTGAGAGGGATCCCCAGGGCCTGG FAM186A Frameshift insertion E1586Afs*92 0 0 0 1 0 0 0.003 0 0 0 0 0 294711 chr12 94975986 94975986 T C rs530422400 TMCC3 Nonsynonymous SNV Y105C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 294712 chr14 24774247 24774247 G A NOP9 Synonymous SNV Q619Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 294713 chr14 24785708 24785708 T C LTB4R Nonsynonymous SNV L284P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 294714 chr3 152058192 152058192 A T TMEM14EP 0 0 0.003 0 0 0 0 1 0 0 0 0 1.085 294715 chr14 29261109 29261109 T C rs151067549 LINC01551 0 0 0.007 0 0 0 0 2 0 0 0 0 4.257 294716 chr12 94697581 94697583 AAG - PLXNC1 E1481del 0.002 0 0 0 2 0 0 0 0 0 0 0 294717 chr13 47297454 47297454 C A rs752542563 LRCH1 Nonsynonymous SNV Q585K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 294718 chr3 160786675 160786675 G A rs141703332 PPM1L Synonymous SNV P144P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.9 294719 chr12 95502192 95502192 T C rs371288810 FGD6 Nonsynonymous SNV N1066D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.2 294720 chr12 53186109 53186109 C A rs200059777 KRT3 Nonsynonymous SNV D368Y 0 0 0 1 0 0 0.003 0 0 0 0 0 30 294721 chr13 52549009 52549009 A G rs199773340 ATP7B Nonsynonymous SNV I116T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 294722 chr13 52693493 52693493 - TCA rs768434512 NEK5 M58_K59insM 0.001 0 0 0 1 0 0 0 0 0 0 0 294723 chr13 61986609 61986609 T C rs1016755863 PCDH20 Synonymous SNV E541E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 294724 chr12 53497955 53497955 G A rs776434088 SOAT2 Nonsynonymous SNV A35T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.008 294725 chr12 53586167 53586169 AAG - rs754597509 ITGB7 F700del 0 0 0 1 0 0 0.003 0 0 0 0 0 294726 chr13 79190746 79190746 A G rs372028712 OBI1 Nonsynonymous SNV Y384H 0.002 0 0 0 2 0 0 0 0 0 0 0 12.36 294727 chr13 80910893 80910893 C T rs374131476 SPRY2 Synonymous SNV X316X 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 294728 chr12 54757553 54757553 A C rs868793018 GPR84 Nonsynonymous SNV V28G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 294729 chr13 21264856 21264856 A G rs764715617 IFT88 Nonsynonymous SNV N704S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.857 294730 chr13 99045957 99045957 G C rs371310874 FARP1 Synonymous SNV S383S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.302 294731 chr3 184090664 184090666 CAG - rs779373385 THPO L233del 0 0 0.003 0 0 0 0 1 0 0 0 0 294732 chr14 58796766 58796766 A C rs755774185 ARID4A Nonsynonymous SNV D262A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 294733 chr12 55863279 55863279 G C OR6C70 Nonsynonymous SNV S215C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 294734 chr12 112743961 112743961 A T rs373681139 HECTD4 Nonsynonymous SNV D414E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 294735 chr2 191844512 191844512 A C rs772114461 STAT1 Synonymous SNV P571P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.278 294736 chr12 56350921 56350921 A G rs142410496 PMEL Nonsynonymous SNV L303P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.209 294737 chr12 113541999 113541999 C T rs148186900 RASAL1 Synonymous SNV T616T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.75 294738 chr13 108518686 108518686 - CTGCTG FAM155A Q86_R87insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 294739 chr14 67784190 67784190 A G MPP5 Nonsynonymous SNV N421D 0 0 0.003 0 0 0 0 1 0 0 0 0 25 294740 chr12 117768602 117768602 G A rs9658276 NOS1 Synonymous SNV T91T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 8.367 294741 chr13 32930673 32930673 C T rs28897744 BRCA2 Nonsynonymous SNV T2515I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 31 294742 chr2 20462991 20462991 G A rs774503909 PUM2 Nonsynonymous SNV H651Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 294743 chr3 195477909 195477909 C T rs766947104 MUC4 Nonsynonymous SNV R954Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 294744 chr2 183387015 183387015 C T rs137961386 PDE1A Nonsynonymous SNV R30H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 31 294745 chr14 75530246 75530246 C T rs140497716 ACYP1 Nonsynonymous SNV G4E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 294746 chr3 197652948 197652948 A G rs758117491 IQCG Nonsynonymous SNV S225P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 294747 chr2 196709848 196709848 A C DNAH7 Nonsynonymous SNV D2941E 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.009 294748 chr2 196737151 196737151 G A rs747178065 DNAH7 Synonymous SNV I2152I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.05 294749 chr14 21549036 21549036 G T ARHGEF40 Nonsynonymous SNV R120L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 294750 chr14 93299592 93299592 G C GOLGA5 Synonymous SNV L615L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.471 294751 chr12 132395279 132395279 G A rs147049737 ULK1 Synonymous SNV S294S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.98 294752 chr2 219563960 219563960 C T rs762005504 STK36 Synonymous SNV C1210C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 294753 chr13 76427381 76427381 C T rs372088123 LMO7 Synonymous SNV Y1179Y 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 294754 chr12 132547093 132547093 - CAGCAGCAGCAGCAG EP400 Q2748_T2749insQQQQQ 0.002 0.003 0 0 2 1 0 0 0 0 0 0 294755 chr14 94964447 94964447 G A rs200955276 SERPINA12 Synonymous SNV D96D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.279 294756 chr12 132834380 132834380 G A rs539598333 GALNT9 Synonymous SNV I269I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.22 294757 chr14 24108567 24108567 T G DHRS2 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 294758 chr15 101094431 101094431 G A rs118100459 PRKXP1 0 0 0.007 0 0 0 0 2 0 0 0 0 4.688 294759 chr14 33015903 33015903 C G AKAP6 Nonsynonymous SNV P682A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 294760 chr12 109843781 109843781 G A rs779778458 MYO1H Nonsynonymous SNV E286K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 294761 chr2 228858308 228858308 G T rs192502309 SPHKAP Nonsynonymous SNV L1555I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 294762 chr14 45369754 45369754 G T C14orf28 Nonsynonymous SNV R39L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 294763 chr15 35045033 35045033 C A rs143687702 GJD2 Synonymous SNV V204V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 294764 chr2 231740463 231740463 C T rs560313566 ITM2C Synonymous SNV N83N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.36 294765 chr13 32911375 32911375 G A rs11571655 BRCA2 Synonymous SNV Q961Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 1.883 294766 chr14 51368553 51368553 C T rs138220940 ABHD12B Nonsynonymous SNV R186W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 294767 chr12 113872006 113872006 C T rs781538786 SDSL Nonsynonymous SNV P141L 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 294768 chr15 41146863 41146863 C T rs558841618 SPINT1 Nonsynonymous SNV R365C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 294769 chr14 53138573 53138573 T C rs747605608 ERO1A Nonsynonymous SNV N125S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 294770 chr3 52858197 52858197 G A ITIH4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.79 294771 chr15 43818756 43818756 A T rs376814435 MAP1A Synonymous SNV T1695T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 294772 chr2 238820356 238820356 C A rs371401930 RAMP1 Synonymous SNV P126P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.948 294773 chr12 123270348 123270348 C G rs960928144 CCDC62 Nonsynonymous SNV T160R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 294774 chr2 239010720 239010720 G A rs201226551 ESPNL Nonsynonymous SNV A145T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 294775 chr14 64460556 64460556 G A rs767613525 SYNE2 Nonsynonymous SNV A884T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 294776 chr3 66287098 66287100 CTG - rs541760168 SLC25A26 A57del 0 0 0.003 0 0 0 0 1 0 0 0 0 294777 chr14 24035948 24035948 C T LOC102724814 0 0 0 1 0 0 0.003 0 0 0 0 0 8.976 294778 chr3 9804858 9804859 AT - CAMK1 Stop gain Y85* 0 0 0.003 0 0 0 0 1 0 0 0 0 294779 chr3 9882216 9882216 G A rs761716901 RPUSD3 Synonymous SNV L185L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.389 294780 chr15 63638815 63638815 T C rs752292150 CA12 Nonsynonymous SNV Y67C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 294781 chr15 65351704 65351704 C T rs144703401 RASL12 Synonymous SNV R52R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 294782 chr2 239039689 239039689 C T rs534547951 ESPNL Synonymous SNV A410A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.383 294783 chr14 88459793 88459793 C T rs557653194 GALC Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.532 294784 chr13 113730469 113730469 A C MCF2L Nonsynonymous SNV M462L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.696 294785 chr13 113835536 113835536 A C rs140649108 PCID2 Nonsynonymous SNV Y232D 0.003 0.003 0 0 3 1 0 0 0 0 0 0 18.41 294786 chr13 114526356 114526356 T G GAS6 Nonsynonymous SNV K549Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 294787 chr15 75047337 75047337 G A rs571663822 CYP1A2 Nonsynonymous SNV V487M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.711 294788 chr15 75656445 75656445 C T rs79888318 MAN2C1 Nonsynonymous SNV E229K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 294789 chr4 125599975 125599975 T A rs201925261 ANKRD50 Nonsynonymous SNV I21F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.046 294790 chr14 96730785 96730785 G A rs201208442 BDKRB1 Nonsynonymous SNV V256M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 294791 chr4 128807660 128807660 T G rs367621049 PLK4 Nonsynonymous SNV S347A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 294792 chr2 39108587 39108587 A G MORN2 Nonsynonymous SNV N2S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 294793 chr13 46701751 46701751 A G rs777499149 LCP1 Nonsynonymous SNV M620T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 294794 chr15 83335614 83335614 C T rs1053635204 AP3B2 Synonymous SNV A547A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 294795 chr14 23564292 23564292 G T ACIN1 Nonsynonymous SNV D68E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 294796 chr4 148887909 148887909 A G rs926270702 ARHGAP10 Synonymous SNV P545P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.78 294797 chr14 104493217 104493217 A G TDRD9 Nonsynonymous SNV R1075G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 294798 chr2 54096527 54096527 G T PSME4 Nonsynonymous SNV T1750N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 294799 chr13 76415797 76415797 C T LMO7 Synonymous SNV L910L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.19 294800 chr2 55155636 55155636 G A rs756700188 EML6 Nonsynonymous SNV V1288M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 294801 chr15 89382123 89382123 T C rs374544549 ACAN Synonymous SNV Y100Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 294802 chr14 105843200 105843200 C T rs4074003 PACS2 Synonymous SNV S299S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 18.67 294803 chr14 105911803 105911803 C A rs75366693 MTA1 Synonymous SNV R49R 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 294804 chr14 105958499 105958499 G A TEDC1 Synonymous SNV L94L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.826 294805 chr14 32902937 32902937 A T rs200712514 AKAP6 Nonsynonymous SNV T80S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 294806 chr4 158254463 158254463 T C GRIA2 Synonymous SNV Y371Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.495 294807 chr4 15987392 15987392 G A rs375986111 PROM1 Synonymous SNV I748I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.32 294808 chr13 103388159 103388159 T G rs778740973 CCDC168 Nonsynonymous SNV E4963A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 294809 chr14 31926540 31926540 G C DTD2 Synonymous SNV A20A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 7.17 294810 chr14 36096668 36096668 C G RALGAPA1 Nonsynonymous SNV G2115A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 1.042 294811 chr4 17638164 17638164 A G FAM184B Nonsynonymous SNV I924T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 294812 chr16 10867259 10867259 G A rs780716080 TVP23A Stop gain R122X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 294813 chr14 51224760 51224760 C T rs80291668 NIN Synonymous SNV A996A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Benign 5.804 294814 chr15 40750719 40750719 G A rs377528771 BAHD1 Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 294815 chr14 51448652 51448652 G A rs36090116 TRIM9 Synonymous SNV H591H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.028 294816 chr2 84785031 84785031 A C DNAH6 Nonsynonymous SNV N592T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 294817 chr16 12662460 12662460 G A rs368457017 SNX29 Nonsynonymous SNV V806M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 294818 chr15 41191666 41191666 G A rs560573580 VPS18 Nonsynonymous SNV R217H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 294819 chr14 54948876 54948876 G A GMFB Nonsynonymous SNV L49F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.7 294820 chr16 14029352 14029352 C G rs41552412 ERCC4 Nonsynonymous SNV S521R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.8 294821 chr14 21052532 21052532 C G rs138048688 RNASE11 Nonsynonymous SNV E34D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.185 294822 chr16 17232220 17232220 G A rs139179946 XYLT1 Nonsynonymous SNV R586C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 294823 chr4 2460934 2460934 C T rs142526896 CFAP99 Synonymous SNV R468R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 294824 chr14 65253698 65253698 C T SPTB Synonymous SNV R995R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 294825 chr14 66208906 66208906 G A rs368942174 FUT8 Synonymous SNV Q339Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.021 294826 chr4 25769410 25769410 T G rs369000397 SEL1L3 Synonymous SNV G869G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.821 294827 chr14 64494355 64494355 G A SYNE2 Synonymous SNV K2186K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.79 294828 chr14 71197431 71197431 C T rs774902596 MAP3K9 Nonsynonymous SNV R727Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 294829 chr14 64635611 64635611 T C rs954372224 SYNE2 Nonsynonymous SNV V5641A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 28.3 294830 chr4 36261527 36261527 G C rs80009147 LOC439933 0 0 0.003 0 0 0 0 1 0 0 0 0 0.55 294831 chr16 20809773 20809773 A G rs138948625 ERI2 Nonsynonymous SNV L450S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 294832 chr16 20946807 20946807 C G rs142540448 DNAH3 Nonsynonymous SNV E3908Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22 294833 chr14 74564548 74564548 A G rs903845791 LIN52 Nonsynonymous SNV I62V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.98 294834 chr16 2225614 2225614 G A rs145525624 TRAF7 Synonymous SNV Q539Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.627 294835 chr3 114069377 114069377 G A rs139463539 ZBTB20 Synonymous SNV P516P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.087 294836 chr16 2814548 2814548 G A rs750586569 SRRM2 Nonsynonymous SNV G1340D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 294837 chr14 75151231 75151231 G T rs990797947 AREL1 Nonsynonymous SNV P57T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.2 294838 chr16 30664117 30664117 C T rs771367408 PRR14 Nonsynonymous SNV P90S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.447 294839 chr3 121641914 121641914 C T rs35052327 SLC15A2 Synonymous SNV L268L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 294840 chr3 122121729 122121729 C T rs199578714 FAM162A Nonsynonymous SNV R53C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 294841 chr16 30997437 30997437 C T rs143699328 HSD3B7 Synonymous SNV A78A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.86 294842 chr14 78390819 78390819 A G ADCK1 Nonsynonymous SNV K225R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.35 294843 chr15 33876616 33876616 A G rs897609657 RYR3 Nonsynonymous SNV R532G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 294844 chr4 65147245 65147245 T C TECRL Nonsynonymous SNV N289D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 294845 chr15 34648322 34648322 T G rs767221399 NUTM1 Nonsynonymous SNV L695V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.344 294846 chr4 68567174 68567174 C T UBA6-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.941 294847 chr4 6865197 6865197 G A KIAA0232 Nonsynonymous SNV V1030I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.729 294848 chr15 74501702 74501702 C G STRA6 Nonsynonymous SNV E32Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.018 294849 chr14 93399011 93399011 G A rs2228575 CHGA Nonsynonymous SNV D218N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.7 294850 chr16 4384871 4384871 G A rs147175353 GLIS2 Nonsynonymous SNV G139R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.73 294851 chr3 127641994 127641994 G A rs370030575 KBTBD12 Nonsynonymous SNV M30I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 294852 chr4 71508154 71508154 T C rs368404606 ENAM Synonymous SNV T119T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 294853 chr16 4660544 4660544 C T rs372576609 UBALD1 Nonsynonymous SNV A45T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 294854 chr16 4664792 4664792 C T rs142976418 UBALD1 Nonsynonymous SNV V3M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 294855 chr4 71841036 71841036 T A rs766268698 MOB1B X148R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.756 294856 chr3 12867018 12867018 G A rs202244584 CAND2 Synonymous SNV A1030A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 294857 chr3 129279182 129279182 G C PLXND1 Synonymous SNV L1708L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 294858 chr16 4864538 4864538 G A rs140155742 GLYR1 Synonymous SNV D252D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 294859 chr14 100173116 100173116 G A CYP46A1 Synonymous SNV L192L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.29 294860 chr14 100795152 100795152 G A rs78830665 SLC25A47 Synonymous SNV S139S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.943 294861 chr3 130381038 130381038 G A rs200429976 COL6A6 Nonsynonymous SNV E2130K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 294862 chr16 57060124 57060124 C T rs150148526 NLRC5 Synonymous SNV H423H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.304 294863 chr3 13363303 13363303 G C rs764957492 NUP210 Nonsynonymous SNV L1650V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.416 294864 chr14 65260485 65260485 T C rs74056006 SPTB Synonymous SNV Q632Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.013 294865 chr4 8416062 8416062 G T rs773714153 ACOX3 Nonsynonymous SNV T167N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 294866 chr16 630872 630872 G T PIGQ Synonymous SNV V477V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.618 294867 chr16 69729178 69729178 A G NFAT5 Synonymous SNV P1293P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.348 294868 chr14 74489782 74489782 A C rs61751904 BBOF1 Nonsynonymous SNV M74L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.87 294869 chr14 74824243 74824243 G A rs61730671 VRTN Nonsynonymous SNV G253S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 294870 chr3 150845672 150845672 A G rs762601310 MED12L Nonsynonymous SNV M153V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 294871 chr14 75266356 75266356 G A rs114080195 YLPM1 Synonymous SNV Q1452Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.399 294872 chr4 95197608 95197608 C T rs151125076 SMARCAD1 Nonsynonymous SNV H213Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 294873 chr16 72048540 72048540 C T rs201230446 DHODH Nonsynonymous SNV R135C 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 34 294874 chr14 75514118 75514118 C T rs139155264 MLH3 Synonymous SNV L747L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.78 294875 chr14 75515624 75515624 G A rs111782152 MLH3 Synonymous SNV Y245Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.065 294876 chr14 75746597 75746597 G A rs144239514 FOS Synonymous SNV L53L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.34 294877 chr15 90984901 90984901 A C rs201948534 IQGAP1 Synonymous SNV T271T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 294878 chr3 152553693 152553693 A T rs766253716 P2RY1 Nonsynonymous SNV K41I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 294879 chr14 76662353 76662353 G A rs74067642 GPATCH2L Synonymous SNV P442P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.659 294880 chr14 76666234 76666234 A G rs57357834 GPATCH2L Nonsynonymous SNV T434A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.859 294881 chr14 76966318 76966318 C T rs201726554 ESRRB Nonsynonymous SNV P470L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.43 294882 chr15 91832821 91832821 C T rs369552317 SV2B Synonymous SNV I482I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 294883 chr3 158523171 158523171 G A rs145878252 MFSD1 Synonymous SNV T6T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 294884 chr14 79746666 79746666 C T rs148275338 NRXN3 Nonsynonymous SNV P11L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.99 294885 chr16 81031082 81031082 C A CMC2 Nonsynonymous SNV G7V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.259 294886 chr15 40684191 40684191 C T rs372765825 KNSTRN Synonymous SNV N263N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.96 294887 chr3 169557779 169557779 - CCA LRRC31 G494_F495insG 0.001 0 0 0 1 0 0 0 0 0 0 0 294888 chr14 89131751 89131751 C T rs561391485 EML5 Synonymous SNV A1069A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.01 294889 chr3 172080629 172080629 A G FNDC3B Nonsynonymous SNV N1001S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 294890 chr16 81279208 81279208 G A rs201365652 BCO1 Nonsynonymous SNV G65S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 294891 chr5 126784826 126784826 T C rs376690442 MEGF10 Synonymous SNV N964N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.823 294892 chr16 820196 820196 C T rs374119540 MIR662 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.14 294893 chr16 1389185 1389185 G A BAIAP3 Synonymous SNV S80S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.527 294894 chr16 1396176 1396176 C T rs115798223 BAIAP3 Synonymous SNV C733C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.09 294895 chr15 42974490 42974490 C T rs775434618 STARD9 Nonsynonymous SNV R752W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.54 294896 chr5 137803137 137803137 C G EGR1 Synonymous SNV P333P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.625 294897 chr16 88500123 88500123 G A rs1013853189 ZNF469 Nonsynonymous SNV R2082Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.352 294898 chr5 140181774 140181774 C T rs138143542 PCDHA3 Nonsynonymous SNV S331L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 294899 chr15 84566669 84566669 C T rs564700676 ADAMTSL3 Synonymous SNV R509R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 294900 chr15 49034189 49034189 T C CEP152 Nonsynonymous SNV Y1259C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 27.8 294901 chr16 88876238 88876238 G A rs142472789 APRT Synonymous SNV N137N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.801 294902 chr15 64275843 64275843 C T rs117564318 DAPK2 Nonsynonymous SNV R68Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 33 294903 chr14 104645674 104645674 C T rs368962466 KIF26A Synonymous SNV A1806A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 294904 chr16 2806498 2806498 C T rs577761441 SRRM2 Synonymous SNV L45L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 294905 chr15 86205654 86205654 C T rs181101885 AKAP13 Nonsynonymous SNV A1594V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 294906 chr5 141312952 141312952 A G rs139326249 DELE1 Nonsynonymous SNV R295G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 294907 chr14 105609236 105609236 G C JAG2 Nonsynonymous SNV H1133Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 294908 chr16 3297121 3297121 G C rs749257763 MEFV Nonsynonymous SNV I283M 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 294909 chr15 68118010 68118010 A G SKOR1 Nonsynonymous SNV N24D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.766 294910 chr14 105965168 105965168 A G rs142782649 TEDC1 Nonsynonymous SNV Q356R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.136 294911 chr3 197238884 197238884 G A rs778442247 BDH1 Nonsynonymous SNV A305V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 294912 chr15 89817440 89817440 G A rs72762644 FANCI Synonymous SNV K339K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.31 294913 chr3 25642698 25642698 G A rs370334603 TOP2B Nonsynonymous SNV T1498I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 294914 chr15 73994648 73994648 C T rs761105640 CD276 Synonymous SNV T44T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.29 294915 chr5 149927852 149927852 G A rs143628072 NDST1 Nonsynonymous SNV A740T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.49 294916 chr15 64215414 64215414 G A rs772407346 DAPK2 Synonymous SNV F329F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.02 294917 chr17 17698117 17698117 G C RAI1 Nonsynonymous SNV G619R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 294918 chr5 153826200 153826200 A C rs755763544 SAP30L Nonsynonymous SNV E12D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.19 294919 chr16 11824602 11824602 T G TXNDC11 Nonsynonymous SNV M200L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.25 294920 chr15 78789569 78789569 A G rs201574906 IREB2 Synonymous SNV A649A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.23 294921 chr17 18151012 18151012 G T FLII Nonsynonymous SNV H761N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 294922 chr3 38938440 38938440 C T rs9816941 SCN11A Nonsynonymous SNV G767R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 294923 chr17 19244576 19244576 G C rs1057109523 B9D1 Nonsynonymous SNV A179G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.225 294924 chr15 40913955 40913955 T A rs59648663 KNL1 Nonsynonymous SNV I498N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 23 294925 chr15 41669447 41669447 G A rs548712030 NUSAP1 Nonsynonymous SNV V330I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 294926 chr15 85326075 85326075 T G rs145206161 ZNF592 Nonsynonymous SNV S57A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.099 294927 chr16 23080363 23080363 G A rs146554415 USP31 Synonymous SNV S1021S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.787 294928 chr15 75047181 75047181 G A CYP1A2 Nonsynonymous SNV A435T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.26 294929 chr16 23226096 23226096 C T rs774755655 SCNN1G Synonymous SNV S519S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.42 294930 chr3 44284791 44284791 C T rs549655953 TOPAZ1 Nonsynonymous SNV L265F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 294931 chr3 44636279 44636280 AT - rs552732245 ZNF660 C199Wfs*3 0.001 0 0.003 0 1 0 0 1 0 0 0 0 294932 chr15 42211663 42211663 C T rs16972253 EHD4 Synonymous SNV K223K 0 0 0.007 1 0 0 0.003 2 0 0 0 0 15.78 294933 chr15 42635287 42635287 T C rs752188315 GANC Synonymous SNV L722L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.803 294934 chr15 42955491 42955491 A G STARD9 Nonsynonymous SNV Q294R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 26.6 294935 chr15 90167692 90167692 G A rs144917314 TICRR Nonsynonymous SNV R1383Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.522 294936 chr17 29302658 29302658 T C rs961082759 DPRXP4 0 0 0.003 0 0 0 0 1 0 0 0 0 1.498 294937 chr3 3084828 3084828 T C CNTN4 Synonymous SNV N564N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.526 294938 chr15 43572056 43572056 G A rs768871208 TGM7 Nonsynonymous SNV S482F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.6 294939 chr17 33443922 33443922 C T rs996040040 RAD51D Synonymous SNV S93S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.65 294940 chr3 47040312 47040312 C T rs143491739 NBEAL2 Synonymous SNV D1075D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.688 294941 chr16 48231890 48231890 C T rs572706787 ABCC11 Nonsynonymous SNV G769E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 294942 chr15 49048360 49048360 T C rs201172776 CEP152 Nonsynonymous SNV M1029V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.004 294943 chr15 50366324 50366324 C T rs150270500 ATP8B4 Synonymous SNV A29A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.07 294944 chr3 48266835 48266835 A G rs55708841 CAMP Nonsynonymous SNV K145R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.661 294945 chr17 36485887 36485887 C T GPR179 Nonsynonymous SNV E1189K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 294946 chr15 52611521 52611521 T A MYO5A Nonsynonymous SNV H1605L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 294947 chr17 38320361 38320361 A G rs200093838 CASC3 Nonsynonymous SNV I471M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 294948 chr3 52423557 52423557 G A rs891092337 DNAH1 Synonymous SNV T3192T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.152 294949 chr3 52429390 52429390 C T DNAH1 Nonsynonymous SNV P3679S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 294950 chr5 43298166 43298166 T A rs373118595 HMGCS1 Synonymous SNV G173G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 294951 chr16 66975484 66975484 G A rs752442284 CES2 Nonsynonymous SNV D331N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 294952 chr16 67264530 67264530 C T rs111846078 FHOD1 Synonymous SNV R944R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 294953 chr16 1031964 1031964 C T rs201357577 SOX8 Synonymous SNV S14S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.74 294954 chr15 65116238 65116238 G A PIF1 Synonymous SNV G99G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 294955 chr16 67867696 67867696 C T rs138604758 CENPT Nonsynonymous SNV A23T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 294956 chr16 67912125 67912125 C T rs115860490 EDC4 Synonymous SNV H317H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 294957 chr3 56716732 56716732 C T TASOR Synonymous SNV Q101Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.642 294958 chr16 67917474 67917474 C T rs116504384 EDC4 Synonymous SNV L1285L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 294959 chr15 65425521 65425521 G A PDCD7 Nonsynonymous SNV A200V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 18.92 294960 chr3 45533152 45533152 T C rs35347543 LARS2 Synonymous SNV I461I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.172 294961 chr16 68056764 68056764 C G rs189530871 DDX28 Nonsynonymous SNV Q114H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 294962 chr16 68325203 68325203 T A rs62636648 SLC7A6 Nonsynonymous SNV S296T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.373 294963 chr5 55407365 55407365 C T ANKRD55 Nonsynonymous SNV V404I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 294964 chr16 68373869 68373869 C G PRMT7 Nonsynonymous SNV Q259E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 294965 chr3 58116607 58116607 G C rs150844992 FLNB Synonymous SNV P1454P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.01 294966 chr16 70190298 70190298 G C rs1050919513 LOC400541 0.001 0 0 0 1 0 0 0 0 0 0 0 8.192 294967 chr5 67494146 67494146 T A rs548144879 LINC02219 0 0 0.007 0 0 0 0 2 0 0 0 0 3.419 294968 chr5 67494180 67494180 C T rs533096082 LINC02219 0 0 0.003 0 0 0 0 1 0 0 0 0 0.894 294969 chr17 39635149 39635149 C T rs751392132 KRT35 Synonymous SNV R270R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 294970 chr16 2230491 2230491 C T CASKIN1 Nonsynonymous SNV A960T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.409 294971 chr3 48629815 48629815 A G rs201697063 COL7A1 Synonymous SNV T354T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.016 294972 chr17 39925787 39925787 G A rs397517300 JUP Synonymous SNV A117A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.46 294973 chr5 78328620 78328620 T C rs769394355 DMGDH Synonymous SNV Q469Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 294974 chr5 78423626 78423626 G A rs200560732 BHMT Nonsynonymous SNV R286K 0 0 0.003 0 0 0 0 1 0 0 0 0 24 294975 chr17 42332026 42332026 A T SLC4A1 Nonsynonymous SNV L632H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 294976 chr17 42397597 42397597 G A rs764855227 SLC25A39 Nonsynonymous SNV R288W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 294977 chr16 84189298 84189298 C T rs35496754 DNAAF1 Nonsynonymous SNV H229Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.5 294978 chr16 2049972 2049972 G A rs762941429 ZNF598 Synonymous SNV T526T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.857 294979 chr16 2069964 2069964 T G rs939186485 NPW Nonsynonymous SNV L21R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 294980 chr5 79616870 79616870 G A rs777259240 SPZ1 Nonsynonymous SNV S279N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.107 294981 chr16 84270657 84270657 C T rs748918688 KCNG4 Synonymous SNV E145E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 294982 chr5 88100493 88100493 G A rs773278207 MEF2C Synonymous SNV T60T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.97 294983 chr17 47299996 47299996 C T ABI3 Synonymous SNV R334R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 294984 chr4 120192574 120192574 G A rs568951821 USP53 Nonsynonymous SNV R469Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 294985 chr16 88870289 88870289 C T CDT1 Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 294986 chr6 109768580 109768602 GTGTCAGGGGTACACCAGGCTCT - rs746637874 MICAL1 E591Pfs*44 0 0 0.003 1 0 0 0.003 1 0 0 0 0 294987 chr16 89764076 89764076 C T rs201257207 SPATA2L Nonsynonymous SNV R314H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 294988 chr17 61559932 61559932 G A ACE Synonymous SNV L408L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.18 294989 chr4 10445246 10445246 T G rs114420725 ZNF518B Nonsynonymous SNV I903L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.085 294990 chr4 155157306 155157306 T G rs572143137 DCHS2 Nonsynonymous SNV D2833A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 294991 chr16 30380879 30380879 G A rs112949123 TBC1D10B Nonsynonymous SNV A209V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.5 294992 chr17 648372 648372 G A GEMIN4 Synonymous SNV L971L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.652 294993 chr16 58287930 58287930 G A rs372193450 CCDC113 Nonsynonymous SNV R86Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 294994 chr16 129485 129485 C T rs749084437 MPG Nonsynonymous SNV S29L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.04 294995 chr16 314989 314989 T A rs778613284 FAM234A Nonsynonymous SNV F543I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 294996 chr16 597261 597261 G A rs769437082 CAPN15 Synonymous SNV A141A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.34 294997 chr16 31502165 31502167 CTT - rs775104009 C16orf58 K466del 0 0.003 0 0 0 1 0 0 0 0 0 0 294998 chr17 69444 69444 G A rs765780150 RPH3AL Nonsynonymous SNV R204W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 294999 chr6 135317945 135317945 A G rs753058056 HBS1L Nonsynonymous SNV V270A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 295000 chr6 135518189 135518189 C G MYB Nonsynonymous SNV Q432E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 295001 chr17 3977476 3977476 G A ZZEF1 Nonsynonymous SNV A1218V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 295002 chr16 53726256 53726256 C T rs151212590 RPGRIP1L Nonsynonymous SNV R84Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26 295003 chr16 30749507 30749507 C T SRCAP Nonsynonymous SNV P2716S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 21.9 295004 chr16 1507330 1507330 C T rs199790407 CLCN7 Synonymous SNV P225P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.44 295005 chr16 1536273 1536273 C G PTX4 Synonymous SNV T363T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.858 295006 chr16 1818239 1818239 C T MAPK8IP3 Nonsynonymous SNV P1194L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 295007 chr17 73498342 73498342 C A rs777900354 CASKIN2 Nonsynonymous SNV G856V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 295008 chr16 2815608 2815608 A G rs142684862 SRRM2 Synonymous SNV S1693S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.157 295009 chr16 68591991 68591991 G A ZFP90 Nonsynonymous SNV V42M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 295010 chr17 73870946 73870946 C T rs772775805 TRIM47 Nonsynonymous SNV R512Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 295011 chr16 57004951 57004951 G A rs34611098 CETP Synonymous SNV G178G 0.004 0.005 0 0 5 2 0 0 0 0 0 0 Benign 1.656 295012 chr16 3304353 3304353 G C MEFV Nonsynonymous SNV R239G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 295013 chr17 74394569 74394569 C G rs770449417 UBE2O Nonsynonymous SNV S627T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 295014 chr4 25759394 25759394 G A rs754923990 SEL1L3 Synonymous SNV N999N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.242 295015 chr16 3614512 3614512 G C NLRC3 Nonsynonymous SNV I142M 0 0 0 1 0 0 0.003 0 0 0 0 0 7.626 295016 chr6 160206753 160206753 G A rs201928872 SNORA29 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 295017 chr16 75589922 75589922 G A TMEM231 Nonsynonymous SNV S83L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.949 295018 chr17 76047131 76047131 C T rs114241857 TNRC6C Nonsynonymous SNV P663L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 295019 chr4 3031016 3031016 T G rs55852353 GRK4 Nonsynonymous SNV H189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.097 295020 chr17 76063866 76063866 C T rs112927668 TNRC6C Synonymous SNV G877G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 295021 chr17 76235217 76235217 C T rs61742094 TMEM235 Synonymous SNV F101F 0 0 0.007 0 0 0 0 2 0 0 0 0 13.74 295022 chr17 7814283 7814283 T C CHD3 Nonsynonymous SNV F1924S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 295023 chr16 84497241 84497241 T C rs369233104 ATP2C2 Nonsynonymous SNV L764S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 295024 chr6 168661835 168661835 G A rs9355059 LOC101929420 0 0 0.003 0 0 0 0 1 0 0 0 0 2.489 295025 chr17 8167217 8167217 C G rs144294972 PFAS Nonsynonymous SNV P585R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 295026 chr16 14749018 14749018 G T rs35377618 BFAR Nonsynonymous SNV R120L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 295027 chr6 18463520 18463520 A G RNF144B 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 295028 chr17 8076904 8076904 G A rs117735243 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.61 295029 chr4 5731108 5731108 G A rs951334006 EVC Synonymous SNV Q125Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.12 295030 chr6 31085253 31085253 G A rs147268533 CDSN Nonsynonymous SNV R47C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 295031 chr16 30722999 30722999 G A SRCAP Nonsynonymous SNV D476N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 295032 chr18 21746658 21746658 A G rs779512823 OSBPL1A Synonymous SNV N335N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.458 295033 chr6 36867376 36867376 C G rs73732050 C6orf89 Synonymous SNV P59P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.882 295034 chr4 73935426 73935426 C T COX18 Synonymous SNV L17L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.409 295035 chr4 3494634 3494634 C T rs138148221 DOK7 Synonymous SNV A163A 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Benign/Likely benign 8.949 295036 chr4 3495059 3495059 C T rs373864257 DOK7 Nonsynonymous SNV T139M 0.002 0.005 0 0 2 2 0 0 0 0 0 0 Uncertain significance 12.47 295037 chr6 38877519 38877519 A G rs146938126 DNAH8 Nonsynonymous SNV R3030G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 32 295038 chr16 46998541 46998541 T C rs143516699 DNAJA2 Synonymous SNV L252L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.667 295039 chr18 32886720 32886720 C G rs78072502 ZNF271P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.637 295040 chr17 27237372 27237372 A G rs752063338 PHF12 Nonsynonymous SNV M744T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 295041 chr4 39217779 39217779 C T rs199765304 WDR19 Synonymous SNV L240L 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.45 295042 chr18 34380175 34380175 T C rs142554015 TPGS2 Nonsynonymous SNV K118R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 295043 chr18 42533168 42533168 A G SETBP1 Nonsynonymous SNV N1288S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 295044 chr17 34324880 34324880 C A rs537114501 CCL15 Nonsynonymous SNV G89W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 295045 chr18 5238311 5238311 G A LINC00667 0 0 0.003 0 0 0 0 1 0 0 0 0 6.394 295046 chr17 36622509 36622509 C T rs750576576 ARHGAP23 Synonymous SNV Y195Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.709 295047 chr4 89772246 89772246 C T rs114556874 FAM13A Nonsynonymous SNV R311Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 295048 chr4 89859377 89859377 A G rs116681493 FAM13A Synonymous SNV L207L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.766 295049 chr18 60242013 60242013 T C rs768507813 ZCCHC2 Nonsynonymous SNV V900A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 295050 chr18 67508547 67508547 T G rs758002118 DOK6 Nonsynonymous SNV S308R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 295051 chr4 99027142 99027142 G A rs141732256 STPG2 Stop gain R192X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 295052 chr6 74468699 74468699 C T CD109 Nonsynonymous SNV P159S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 295053 chr16 71606588 71606588 C T rs182191343 TAT Nonsynonymous SNV V138I 0 0 0 1 0 0 0.003 0 0 0 0 0 23 295054 chr17 9631288 9631288 C T rs761220890 USP43 Nonsynonymous SNV R780C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 295055 chr6 87970298 87970298 G A rs187534807 ZNF292 Synonymous SNV G2317G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.003 295056 chr16 75513586 75513586 G C rs781165190 CHST6 Synonymous SNV S47S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.637 295057 chr5 126140617 126140617 T C LMNB1 Nonsynonymous SNV I170T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 295058 chr17 41343467 41343467 A T rs753743690 NBR1 Synonymous SNV A293A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.198 295059 chr16 81214862 81214862 C T PKD1L2 Nonsynonymous SNV C671Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.83 295060 chr17 42882707 42882707 G T rs775079785 GJC1 Nonsynonymous SNV P160H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 295061 chr19 11545643 11545643 G A rs773007379 CCDC151 Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.409 295062 chr19 11606369 11606369 G A MIR7974 0 0 0.003 0 0 0 0 1 0 0 0 0 4.685 295063 chr5 132232735 132232735 C T rs775075192 AFF4 Synonymous SNV P529P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 295064 chr16 83704515 83704515 G A rs751528576 CDH13 Nonsynonymous SNV G369R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 295065 chr19 14000226 14000226 A G rs532762540 C19orf57 Synonymous SNV V363V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.198 295066 chr16 85023930 85023930 T G rs780887905 ZDHHC7 Synonymous SNV R99R 0 0 0 1 0 0 0.003 0 0 0 0 0 2.762 295067 chr17 48667873 48667873 C T CACNA1G Synonymous SNV V781V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 295068 chr16 87443921 87443921 C T rs545554777 ZCCHC14 Nonsynonymous SNV A1076T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 295069 chr4 91234136 91234136 G A rs200976407 CCSER1 Nonsynonymous SNV E483K 0.002 0 0 0 2 0 0 0 0 0 0 0 17.53 295070 chr17 58677865 58677865 G A rs16944543 PPM1D Synonymous SNV E30E 0.002 0 0 0 2 0 0 0 0 0 0 0 5.73 295071 chr17 58786681 58786681 A G rs34712615 BCAS3 Nonsynonymous SNV I106V 0.002 0 0 0 2 0 0 0 0 0 0 0 2.364 295072 chr7 111629218 111629218 G A rs202246313 DOCK4 Nonsynonymous SNV R106C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.4 295073 chr19 18257757 18257757 C T MAST3 Nonsynonymous SNV R1048W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 295074 chr7 115890480 115890480 G A rs764046912 TES Nonsynonymous SNV G211E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 295075 chr5 149431392 149431392 C T rs192275924 HMGXB3 Synonymous SNV I1006I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.371 295076 chr19 1952714 1952714 C T rs561767183 CSNK1G2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.332 295077 chr19 1952715 1952715 C T rs528892841 CSNK1G2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.717 295078 chr17 26959174 26959174 T C KIAA0100 Nonsynonymous SNV R1154G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.5 295079 chr17 31258635 31258635 G A TMEM98 Nonsynonymous SNV R30H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 295080 chr19 24288861 24288861 C T ZNF254 Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 295081 chr19 2877696 2877696 G A rs146297141 ZNF556 Nonsynonymous SNV R246H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 295082 chr17 3729426 3729426 T G NCBP3 Nonsynonymous SNV S189R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 295083 chr19 3155836 3155836 G T GNA15 Synonymous SNV G210G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.217 295084 chr19 31768945 31768945 G A rs61747224 TSHZ3 Nonsynonymous SNV P585L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.665 295085 chr19 33703327 33703327 C T rs745688339 SLC7A10 Nonsynonymous SNV S220N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 295086 chr17 73998487 73998487 C G rs763937816 CDK3 Synonymous SNV T158T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 295087 chr5 16694607 16694607 C G rs202213331 MYO10 Nonsynonymous SNV G1225R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 295088 chr17 4995437 4995437 T C ZFP3 Nonsynonymous SNV I213T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.975 295089 chr17 38127861 38127862 AA - rs765830161 GSDMA K215Rfs*2 0.002 0 0 0 2 0 0 0 0 0 0 0 295090 chr7 140273728 140273728 A C rs373075745 DENND2A Nonsynonymous SNV S442R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 295091 chr19 36135689 36135689 G A ETV2 Nonsynonymous SNV G135S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 295092 chr17 6594163 6594163 C T rs372801738 SLC13A5 Nonsynonymous SNV V415M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.33 295093 chr19 37406842 37406842 G A ZNF829 Synonymous SNV G5G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.729 295094 chr5 140953566 140953566 - GGAGGAGGAGGA DIAPH1 P611_L612insPPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 295095 chr17 41063034 41063034 G C rs515726229 G6PC Nonsynonymous SNV G222A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.1 295096 chr5 141059731 141059731 G A ARAP3 Nonsynonymous SNV P108L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 295097 chr5 179150000 179150000 G A rs146501349 CANX Nonsynonymous SNV A352T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 295098 chr5 179751269 179751269 C T rs560448078 GFPT2 Nonsynonymous SNV R238Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 295099 chr5 180631783 180631783 C A rs551119310 TRIM7 Nonsynonymous SNV A110S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.382 295100 chr17 79205201 79205201 C T rs889429016 TEPSIN Synonymous SNV Q297Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 295101 chr19 39913978 39913978 C T rs61730569 PLEKHG2 Nonsynonymous SNV R703C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295102 chr17 42978918 42978918 A G CCDC103 Synonymous SNV P58P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.517 295103 chr7 1538968 1538968 C T rs771194115 INTS1 Synonymous SNV E291E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 295104 chr17 79892814 79892814 G A rs35355434 PYCR1 Synonymous SNV S176S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.79 295105 chr7 155755862 155755862 G A rs536950750 LOC389602 Synonymous SNV T113T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.79 295106 chr17 80159738 80159738 C T rs370460701 CCDC57 Nonsynonymous SNV R28H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 295107 chr7 16823064 16823064 A G rs748761555 TSPAN13 Nonsynonymous SNV Y188C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 295108 chr5 40798268 40798268 T C PRKAA1 Synonymous SNV R8R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.317 295109 chr17 17118325 17118325 G A rs757471403 FLCN Synonymous SNV L504L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.79 295110 chr17 56649357 56649357 A T rs138328740 TEX14 Nonsynonymous SNV S1214R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 295111 chr18 3879687 3879687 C A rs137860398 DLGAP1 Nonsynonymous SNV V128L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 295112 chr17 57756800 57756800 C G CLTC Nonsynonymous SNV L951V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 295113 chr5 42711311 42711311 G A GHR Nonsynonymous SNV M185I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 295114 chr19 44237835 44237835 G A rs143097928 SMG9 Nonsynonymous SNV R385W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295115 chr7 24742438 24742438 C T rs140321823 GSDME Nonsynonymous SNV A236T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.74 295116 chr17 45490169 45490169 A G EFCAB13 Nonsynonymous SNV H674R 0.003 0.003 0 2 3 1 0.005 0 0 0 0 0 1.762 295117 chr17 19700836 19700836 T C ULK2 Nonsynonymous SNV Y561C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.716 295118 chr5 52397955 52397955 C T rs201955128 MOCS2 Synonymous SNV P66P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 295119 chr5 54404140 54404140 G A rs142064253 GZMA Nonsynonymous SNV R182Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 295120 chr5 55251987 55251987 T C rs149924543 IL6ST Nonsynonymous SNV Q46R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.129 295121 chr19 45026754 45026754 C A CEACAM20 Synonymous SNV V220V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 295122 chr5 64848341 64848341 T C CENPK Synonymous SNV T49T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.685 295123 chr7 40132748 40132748 T C CDK13 Synonymous SNV D1200D 0 0 0.007 0 0 0 0 2 0 0 0 0 0.809 295124 chr17 56435826 56435826 C G RNF43 Synonymous SNV R310R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.66 295125 chr5 74325068 74325068 G A rs144350055 GCNT4 Synonymous SNV F265F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.226 295126 chr18 34232803 34232803 C T FHOD3 Synonymous SNV P519P 0.001 0 0 0 1 0 0 0 0 0 0 0 21 295127 chr17 35620777 35620777 T A rs767421092 ACACA Synonymous SNV G285G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.49 295128 chr17 62492780 62492780 C T rs200118378 POLG2 Nonsynonymous SNV G103S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 34 295129 chr5 32126609 32126609 A G GOLPH3 Synonymous SNV H202H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.137 295130 chr17 67004310 67004310 G A rs143208550 ABCA9 Synonymous SNV L1072L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.591 295131 chr7 5467351 5467351 A C rs1017568066 LOC100129484 Nonsynonymous SNV W177G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.8 295132 chr5 80388680 80388680 C T rs373195367 RASGRF2 Nonsynonymous SNV S484L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 295133 chr18 56247312 56247312 G A rs200129061 ALPK2 Synonymous SNV H232H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.185 295134 chr18 56278985 56278985 - A ALPK2 Frameshift insertion L15Ffs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 295135 chr17 73916400 73916400 G A rs774676194 FBF1 Synonymous SNV A595A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.09 295136 chr5 9227033 9227033 C T rs138889059 SEMA5A Nonsynonymous SNV R127Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 295137 chr7 73245994 73245994 G A rs781811608 CLDN4 Nonsynonymous SNV G155R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 295138 chr7 73634582 73634582 A T rs782217957 LAT2 Nonsynonymous SNV E88V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 295139 chr19 51656587 51656587 C G LOC101928517 0 0 0.003 0 0 0 0 1 0 0 0 0 2.009 295140 chr5 74324564 74324564 T G GCNT4 Nonsynonymous SNV R433S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 295141 chr17 79983313 79983313 C T LRRC45 Synonymous SNV P197P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.41 295142 chr5 6622139 6622139 G T rs148924682 NSUN2 Synonymous SNV V169V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 10.96 295143 chr18 77474605 77474605 G A rs768878157 CTDP1 Nonsynonymous SNV R263Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 295144 chr17 80543882 80543882 C T rs200809204 FOXK2 Nonsynonymous SNV S461L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.05 295145 chr17 42432481 42432481 C T FAM171A2 Synonymous SNV Q367Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.8 295146 chr19 681438 681438 C T FSTL3 Nonsynonymous SNV S204F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 295147 chr19 54314474 54314474 G A NLRP12 Synonymous SNV L147L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.551 295148 chr6 119232799 119232799 T C rs76967739 MCM9 Nonsynonymous SNV N389S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.045 295149 chr6 123124884 123124884 G T rs150118372 SMPDL3A Nonsynonymous SNV G84V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 295150 chr6 126307767 126307767 C G rs376216829 TRMT11 Nonsynonymous SNV P24R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 295151 chr19 1481797 1481797 G C rs759328869 PCSK4 Synonymous SNV T743T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 295152 chr19 1623978 1623978 C T rs779730358 TCF3 Nonsynonymous SNV R174Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 295153 chr17 56056604 56056604 T C rs138088904 VEZF1 Synonymous SNV Q349Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.003 295154 chr19 2421946 2421946 A C rs200218981 TMPRSS9 Nonsynonymous SNV K716T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 295155 chr19 2438511 2438511 G A rs751439345 LMNB2 Synonymous SNV G140G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 295156 chr19 2933574 2933574 C G ZNF77 Nonsynonymous SNV E517D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 295157 chr5 94956761 94956761 G C rs772736296 GPR150 Nonsynonymous SNV R261P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 295158 chr8 139688836 139688836 G A rs138965074 COL22A1 Nonsynonymous SNV R1039C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 295159 chr17 67119537 67119537 G A rs758085328 ABCA6 Nonsynonymous SNV R427C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 295160 chr17 71196096 71196096 C T rs773341615 COG1 Stop gain R336X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 295161 chr19 57955873 57955873 C A rs150973415 ZNF749 Nonsynonymous SNV L366I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 295162 chr6 116836804 116836804 T C CALHM5 Synonymous SNV S194S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.045 295163 chr6 116944073 116944073 T C rs1039701362 RSPH4A Synonymous SNV L277L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.579 295164 chr19 58131812 58131812 G A rs201845735 ZNF134 Nonsynonymous SNV D109N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 295165 chr18 42281472 42281472 G A rs140717709 SETBP1 Nonsynonymous SNV R54H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 295166 chr6 158454576 158454576 G A rs780631032 SYNJ2 Nonsynonymous SNV R192H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 295167 chr17 73843025 73843025 G A rs974179399 WBP2 Synonymous SNV Y187Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.932 295168 chr8 145731504 145731504 - A GPT Stop gain Y316* 0 0 0.003 0 0 0 0 1 0 0 0 0 295169 chr8 145738645 145738645 G A rs764549158 RECQL4 Nonsynonymous SNV R807C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 295170 chr19 7518468 7518468 C T rs768500658 ARHGEF18 Synonymous SNV I415I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.21 295171 chr6 1611789 1611789 G C rs535065221 FOXC1 Nonsynonymous SNV S370T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.153 295172 chr19 7963626 7963626 G A rs200846503 LRRC8E Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 295173 chr19 7963627 7963627 C A rs201265081 LRRC8E Nonsynonymous SNV P74T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 295174 chr8 2033459 2033459 C T rs117271121 MYOM2 Synonymous SNV V527V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 295175 chr8 2088697 2088697 G A MYOM2 Synonymous SNV E1284E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 295176 chr6 26388331 26388331 C T BTN2A2 Nonsynonymous SNV P62L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 295177 chr17 79526402 79526402 G A rs4073997 NPLOC4 Synonymous SNV G575G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.173 295178 chr19 9086988 9086988 T A rs763503443 MUC16 Synonymous SNV P1609P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.031 295179 chr8 37823193 37823193 C A ADRB3 Synonymous SNV T265T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 295180 chr18 335075 335075 C G rs376978607 COLEC12 Nonsynonymous SNV E495Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 295181 chr18 688594 688594 C T rs201173362 ENOSF1 Synonymous SNV A30A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.26 295182 chr1 10713555 10713555 G A rs763902127 CASZ1 Synonymous SNV A853A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.532 295183 chr19 9325424 9325424 C T OR7D4 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.13 295184 chr19 10394909 10394909 G A rs141080585 ICAM1 Nonsynonymous SNV A280T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.148 295185 chr19 10468708 10468708 C A rs201335603 TYK2 Nonsynonymous SNV G761V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 31 295186 chr19 11462796 11462796 T C rs745378878 CCDC159 Nonsynonymous SNV V185A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 295187 chr19 1371140 1371140 C T rs145734825 PWWP3A Synonymous SNV S615S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 2.671 295188 chr6 38830061 38830061 A G rs200037660 DNAH8 Nonsynonymous SNV Y1829C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Uncertain significance 26.7 295189 chr19 12460651 12460651 C T rs765612522 ZNF442 Nonsynonymous SNV R514H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.794 295190 chr19 12461042 12461042 T G ZNF442 Nonsynonymous SNV T384P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 295191 chr1 114682277 114682277 G A rs760272255 SYT6 Nonsynonymous SNV R158W 0 0 0.007 0 0 0 0 2 0 0 0 0 27.7 295192 chr6 39835407 39835407 T C rs368626143 DAAM2 Synonymous SNV L184L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.174 295193 chr19 2834527 2834527 G A rs201262236 ZNF554 Nonsynonymous SNV G432R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 25.1 295194 chr1 11836629 11836629 G A C1orf167 Stop gain W758X 0 0 0.003 0 0 0 0 1 0 0 0 0 32 295195 chr19 3831404 3831404 G A rs959997093 ZFR2 Nonsynonymous SNV S250L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.342 295196 chr19 15271589 15271589 T A NOTCH3 Nonsynonymous SNV T2284S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 295197 chr1 12065959 12065959 C T rs747733583 MFN2 Nonsynonymous SNV R563C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 295198 chr19 15281153 15281153 C T NOTCH3 Synonymous SNV A1701A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.2 295199 chr6 43109971 43109971 C T rs202082141 PTK7 Nonsynonymous SNV R531C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 295200 chr19 4433329 4433329 G A rs368347266 CHAF1A Synonymous SNV P822P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.711 295201 chr18 33780276 33780276 G A rs780099735 MOCOS Synonymous SNV S310S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.658 295202 chr6 44144697 44144697 G A rs771549645 CAPN11 Nonsynonymous SNV R400H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 295203 chr6 45909356 45909356 T C rs564438778 CLIC5 Nonsynonymous SNV N271D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 295204 chr19 16666053 16666053 C T rs547072256 SLC35E1 Synonymous SNV T304T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 295205 chr19 5222919 5222919 T C rs770291253 PTPRS Nonsynonymous SNV I940V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.1 295206 chr18 51818259 51818259 A G rs142168361 POLI Nonsynonymous SNV M298V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 295207 chr19 17322987 17322987 C T rs377113257 MYO9B Synonymous SNV P2114P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 295208 chr19 17338709 17338709 C G rs775930116 OCEL1 Nonsynonymous SNV D171E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 295209 chr1 153750267 153750267 C T rs199984591 SLC27A3 Nonsynonymous SNV S356L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 295210 chr1 154112373 154112373 C G rs191803458 NUP210L Nonsynonymous SNV E208Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 295211 chr1 154931632 154931632 C T rs780912030 PYGO2 Nonsynonymous SNV A282T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 295212 chr19 17834940 17834940 C A rs369085181 MAP1S Synonymous SNV R50R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 295213 chr18 60191555 60191555 G A ZCCHC2 Nonsynonymous SNV V300M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.97 295214 chr9 125377914 125377914 G C rs144748082 OR1Q1 Nonsynonymous SNV G300R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 295215 chr9 125659725 125659725 C T rs779146972 RC3H2 Nonsynonymous SNV D22N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 295216 chr19 23041105 23041105 A G ZNF723 Nonsynonymous SNV H471R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.874 295217 chr1 158298737 158298737 G C CD1B Nonsynonymous SNV C318W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 295218 chr6 7862565 7862565 G C rs754814910 BMP6 Synonymous SNV L346L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.571 295219 chr19 374409 374409 G C rs150793768 THEG Nonsynonymous SNV I107M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 295220 chr1 15894411 15894411 T C DNAJC16 Synonymous SNV G384G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.772 295221 chr19 619060 619060 C T rs368106974 POLRMT Synonymous SNV V1068V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.192 295222 chr6 88218814 88218814 C T SLC35A1 Synonymous SNV N210N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 295223 chr6 89858987 89858987 G A PM20D2 Nonsynonymous SNV V157I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.797 295224 chr19 35758204 35758204 T C LSR Nonsynonymous SNV V386A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 295225 chr6 96986658 96986658 G A rs767145924 UFL1 Nonsynonymous SNV R377H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 295226 chr19 932496 932496 - GAGGAG rs773246652 ARID3A E154_D155insEE 0 0 0 1 0 0 0.003 0 0 0 0 0 295227 chr1 162824968 162824968 A T rs758931296 CCDC190 Nonsynonymous SNV S166T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.227 295228 chr1 16342090 16342090 C T rs763036096 HSPB7 Synonymous SNV T170T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.65 295229 chr7 100192117 100192117 G A rs7801492 FBXO24 Nonsynonymous SNV R290H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 295230 chr7 100401098 100401098 C A rs112803997 EPHB4 Synonymous SNV P983P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.22 295231 chr7 100417809 100417809 G A rs151161414 EPHB4 Synonymous SNV V306V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 295232 chr19 9204371 9204371 T C rs375660862 OR1M1 Nonsynonymous SNV F151L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 0.001 295233 chr19 9325385 9325385 C T rs375836737 OR7D4 Synonymous SNV L43L 0.003 0.003 0 1 3 1 0.003 0 0 0 0 0 6.333 295234 chr1 167653174 167653174 C T rs773744850 RCSD1 Nonsynonymous SNV S15L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 295235 chr1 168059836 168059836 C T rs771035075 GPR161 Synonymous SNV T312T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 295236 chr19 1122941 1122941 G A rs757589589 SBNO2 Synonymous SNV S187S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.076 295237 chr19 38103211 38103211 C T rs755842916 ZNF540 Nonsynonymous SNV R312C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 295238 chr9 138773572 138773572 C T rs551929948 CAMSAP1 Synonymous SNV K164K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 295239 chr1 169697313 169697313 G A rs73041408 SELE Nonsynonymous SNV R389C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.03 295240 chr9 139273192 139273192 G A rs764912947 SNAPC4 Synonymous SNV P1029P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.664 295241 chr1 171496968 171496968 G A rs149832094 PRRC2C Synonymous SNV K411K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 14.36 295242 chr1 171509415 171509415 C T rs146137595 PRRC2C Nonsynonymous SNV P935L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.662 295243 chr19 2433939 2433939 G A rs143008010 LMNB2 Nonsynonymous SNV T456M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 295244 chr1 172628518 172628518 G A rs559795993 FASLG Synonymous SNV P59P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.98 295245 chr1 17313565 17313565 T C rs372182128 ATP13A2 Nonsynonymous SNV Y976C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 295246 chr9 140201476 140201476 G A rs143164347 EXD3 Stop gain R853X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 295247 chr6 83845505 83845505 G A rs961381798 DOP1A Nonsynonymous SNV R1004H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 295248 chr19 14273698 14273698 G A rs199904830 ADGRL1 Synonymous SNV Y305Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.318 295249 chr9 20413852 20413852 G C MLLT3 Nonsynonymous SNV S328C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 295250 chr19 14585115 14585115 G A rs772855795 PTGER1 Synonymous SNV P6P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 295251 chr9 20414404 20414404 T C MLLT3 Nonsynonymous SNV H144R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.827 295252 chr19 15052600 15052600 G C rs148414400 OR7C2 Nonsynonymous SNV Q100H 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.8 295253 chr19 17476166 17476168 TCT - PLVAP K369del 0 0 0 1 0 0 0.003 0 0 0 0 0 295254 chr19 42585315 42585315 C T rs151081805 ZNF574 Nonsynonymous SNV R943W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 295255 chr7 100660848 100660848 C T MUC12-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 295256 chr19 15587051 15587051 T C rs145036720 PGLYRP2 Nonsynonymous SNV S144G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.399 295257 chr19 6665217 6665217 T C TNFSF14 Nonsynonymous SNV Q112R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 295258 chr1 192545045 192545045 G C rs566167710 RGS1 Nonsynonymous SNV R41S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 295259 chr19 19466095 19466095 C T rs184450529 MAU2 Synonymous SNV N554N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.71 295260 chr19 44932748 44932748 G A rs777593082 ZNF229 Synonymous SNV G730G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.161 295261 chr9 73168150 73168150 G A rs780444696 TRPM3 Synonymous SNV I1078I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 295262 chr9 78842426 78842426 T C rs751206890 PCSK5 Synonymous SNV Y878Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 295263 chr19 17394552 17394552 A G rs750248561 ANKLE1 Nonsynonymous SNV I316V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.001 295264 chr1 201981884 201981884 G A rs755479338 ELF3 Nonsynonymous SNV A199T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.096 295265 chr9 79930186 79930186 T C VPS13A Nonsynonymous SNV V1438A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.328 295266 chr9 79931219 79931219 A G rs149840356 VPS13A Nonsynonymous SNV Y1548C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.01 295267 chrM 3029 3029 T C RNR2 0 0 0.003 0 0 0 0 1 0 0 0 0 295268 chr1 209602712 209602712 T G rs115844920 MIR205HG 0 0 0.003 0 0 0 0 1 0 0 0 0 9.023 295269 chrX 102612660 102612660 A G rs754749104 TCEAL9 Synonymous SNV E16E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.86 295270 chr1 211542860 211542860 A G TRAF5 Nonsynonymous SNV K286E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.071 295271 chr1 212459465 212459465 - CGC rs781154263 PPP2R5A P7_A8insP 0 0 0.003 0 0 0 0 1 0 0 0 0 295272 chr1 21268600 21268600 G C rs758761712 EIF4G3 Nonsynonymous SNV F293L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.823 295273 chr19 50102555 50102555 C T rs760013010 PRR12 Synonymous SNV G1235G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 295274 chrX 132092479 132092479 C A rs202179309 HS6ST2 Nonsynonymous SNV R51L 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign 22.9 295275 chrX 133674612 133674612 A G rs141784874 MIR450A2 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 295276 chr19 33696255 33696255 C T rs372361190 LRP3 Synonymous SNV D193D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.43 295277 chr19 50985471 50985482 GGGTGGGGGTGG - rs775951160 EMC10 G256_G259del 0.001 0 0 0 1 0 0 0 0 0 0 0 295278 chrX 153170623 153170623 C T rs201419746 AVPR2 Synonymous SNV S8S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.992 295279 chrX 153247677 153247677 C T rs782364046 TMEM187 Nonsynonymous SNV P55L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 295280 chr1 223983695 223983695 T A rs147947440 TP53BP2 Nonsynonymous SNV N849I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.633 295281 chr1 226055719 226055719 A G TMEM63A Nonsynonymous SNV I128T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 295282 chr19 12691817 12691817 C T rs374620519 ZNF490 Nonsynonymous SNV G358R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 295283 chr7 132169718 132169718 C T PLXNA4 Nonsynonymous SNV G476R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 3.169 295284 chr19 13065183 13065183 G T GADD45GIP1 Nonsynonymous SNV P170T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 295285 chr1 228285050 228285050 C T rs774460920 ARF1 Synonymous SNV N52N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.834 295286 chr19 14038957 14038957 G C rs971152161 CC2D1A Synonymous SNV G825G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.34 295287 chr7 135418796 135418796 T G rs59178195 FAM180A Nonsynonymous SNV Q150P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 295288 chr1 228509697 228509697 G A rs193302438 OBSCN Nonsynonymous SNV R5052H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.4 295289 chrY 2844712 2844712 T C rs763007327 ZFY Synonymous SNV N119N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.982 295290 chr10 101715377 101715377 C T rs139408405 DNMBP Synonymous SNV P618P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.69 295291 chr10 105798223 105798223 G A rs777502825 COL17A1 Nonsynonymous SNV P1004L 0 0 0.003 0 0 0 0 1 0 0 0 0 27 295292 chr19 55870473 55870473 G A rs188204813 FAM71E2 Nonsynonymous SNV P588L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 295293 chr7 27203101 27203101 T C rs996761524 HOXA10-HOXA9 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 295294 chr10 118084538 118084538 C T rs773656241 CCDC172 Synonymous SNV S5S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 295295 chr19 18234796 18234796 C T rs760263860 MAST3 Synonymous SNV Y198Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.56 295296 chr10 119799643 119799643 G C rs369717056 RAB11FIP2 Nonsynonymous SNV P263A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.717 295297 chr7 155757440 155757440 G A LOC389602 Stop gain W247X 0.002 0 0 0 2 0 0 0 0 0 0 0 28.1 295298 chr7 156742478 156742478 A G NOM1 Nonsynonymous SNV Q16R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 295299 chr7 158534575 158534575 C T rs547900513 ESYT2 Nonsynonymous SNV E582K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 295300 chr19 46973370 46973370 G A rs200798029 PNMA8A Nonsynonymous SNV A308V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 295301 chr19 20727535 20727535 G A rs10410201 ZNF737 Nonsynonymous SNV R492C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.87 295302 chr10 131641630 131641630 G A rs966973952 MIR4297 0 0 0.003 0 0 0 0 1 0 0 0 0 6.087 295303 chr7 55227850 55227850 A G rs17290005 EGFR Synonymous SNV A172A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.107 295304 chr7 55231426 55231426 T C rs17290103 EGFR Synonymous SNV G277G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.08 295305 chr1 26310574 26310574 G A rs750233992 PAFAH2 Nonsynonymous SNV R139W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 295306 chr7 55233038 55233038 G A rs17290162 EGFR Synonymous SNV P329P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.822 295307 chr19 50826537 50826537 T C rs200426120 KCNC3 Nonsynonymous SNV K482R 0 0 0 1 0 0 0.003 0 0 0 0 0 13 295308 chr7 27170110 27170110 C G rs761518289 HOXA4 Nonsynonymous SNV E81D 0.002 0 0 0 2 0 0 0 0 0 0 0 5.779 295309 chr19 35251017 35251017 T C ZNF599 Nonsynonymous SNV N230S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 295310 chr7 6472529 6472529 T C DAGLB Nonsynonymous SNV T161A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 295311 chr19 36003976 36003976 C G DMKN Synonymous SNV G134G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.164 295312 chr10 1421303 1421303 A C rs141430718 ADARB2 Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.116 295313 chr10 1421304 1421304 G C rs527533816 ADARB2 Nonsynonymous SNV P51R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 295314 chr19 36050782 36050782 G A ATP4A Synonymous SNV T327T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.55 295315 chr7 7413093 7413093 T G rs767376507 COL28A1 Nonsynonymous SNV Q815P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 295316 chr7 75912366 75912366 C T rs376898727 SRRM3 Synonymous SNV I560I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 295317 chr10 23297293 23297293 G T ARMC3 Stop gain E377X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 295318 chr7 76058857 76058857 G A rs140906109 ZP3 Nonsynonymous SNV S113N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 295319 chr10 24884841 24884841 C T ARHGAP21 Nonsynonymous SNV M990I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 295320 chr1 3701756 3701756 G A rs201591803 LRRC47 Synonymous SNV H363H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 295321 chr7 82467539 82467539 C G rs781587683 PCLO Synonymous SNV G4739G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 295322 chr19 38610084 38610084 C T rs746094333 SIPA1L3 Synonymous SNV S810S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.768 295323 chr19 38655448 38655448 C T rs149431395 SIPA1L3 Synonymous SNV A1370A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.45 295324 chr19 38845405 38845405 T C rs200723057 CATSPERG Synonymous SNV Y351Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 295325 chr1 40780059 40780059 C G COL9A2 Nonsynonymous SNV G51R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 295326 chr1 42050301 42050301 C T rs767464049 HIVEP3 Synonymous SNV P56P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 295327 chr7 48682921 48682921 A G rs745980084 ABCA13 Nonsynonymous SNV K4959E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 295328 chr1 43218314 43218314 C T rs781335485 P3H1 Nonsynonymous SNV G456D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 295329 chr8 101253176 101253176 G A rs148756457 SPAG1 Nonsynonymous SNV D903N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.526 295330 chr20 36779426 36779426 C T rs764630453 TGM2 Nonsynonymous SNV R75Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 295331 chr1 4772462 4772462 A T rs139622182 AJAP1 Nonsynonymous SNV T178S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 295332 chr1 53446080 53446080 A G rs751880143 SCP2 Nonsynonymous SNV M236V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 295333 chr20 42747221 42747221 G A rs781376425 JPH2 Synonymous SNV A404A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.43 295334 chr20 44642884 44642884 G A MMP9 Nonsynonymous SNV M624I 0.002 0 0 0 2 0 0 0 0 0 0 0 13.7 295335 chr1 57417807 57417807 T G C8B Synonymous SNV R194R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.189 295336 chr8 124978273 124978273 A G rs532915997 FER1L6 Nonsynonymous SNV D75G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 295337 chr8 12870275 12870275 T C rs201747607 TRMT9B Synonymous SNV I79I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.506 295338 chr1 62970397 62970397 C T rs115353638 DOCK7 Synonymous SNV R1516R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.44 295339 chr10 75277214 75277214 C A USP54 Nonsynonymous SNV E933D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 295340 chr19 46124887 46124887 G A rs750037044 EML2 Nonsynonymous SNV R168C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 295341 chr19 58232679 58232679 G A ZNF671 Nonsynonymous SNV H161Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.679 295342 chr1 74665427 74665427 C T rs757805088 FPGT, FPGT-TNNI3K Synonymous SNV N67N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 295343 chr8 141554315 141554315 G A rs755598088 AGO2 Synonymous SNV A612A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 295344 chr10 82348534 82348534 G A SH2D4B 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 295345 chr19 46915056 46915056 C T rs145808289 CCDC8 Nonsynonymous SNV E338K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.96 295346 chr1 85096412 85096412 G A rs534976724 LINC01555 0 0 0.003 0 0 0 0 1 0 0 0 0 0.156 295347 chr8 144660386 144660386 C - NAPRT A35Rfs*70 0.001 0 0 0 1 0 0 0 0 0 0 0 295348 chr10 97143796 97143796 G A rs202141226 SORBS1 Nonsynonymous SNV S285L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295349 chr10 97376243 97376243 G A rs200730342 ALDH18A1 Synonymous SNV A320A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.33 295350 chr1 89846011 89846011 G A rs961339806 GBP6 Nonsynonymous SNV R101Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 295351 chr8 144801230 144801230 T A rs139710965 MAPK15 Nonsynonymous SNV L162Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 295352 chr8 144891806 144891806 C G SCRIB Nonsynonymous SNV G538A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 295353 chr10 99179214 99179214 C A rs866876901 LOC644215 0 0 0.003 0 0 0 0 1 0 0 0 0 6.424 295354 chr19 58945358 58945358 G A rs774490675 ZNF132 Nonsynonymous SNV R485W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 295355 chr8 144992505 144992505 G A rs367762116 PLEC Synonymous SNV Y3814Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.932 295356 chr8 144998557 144998557 C T rs577374823 PLEC Nonsynonymous SNV R1833Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 295357 chr19 50149841 50149841 C T rs371276978 SCAF1 Nonsynonymous SNV P107L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 295358 chr21 30464045 30464045 C T rs150407882 MAP3K7CL Nonsynonymous SNV P64S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.405 295359 chr20 13763727 13763727 C T rs767005863 ESF1 Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 295360 chr19 51170446 51170446 G C rs748675087 SHANK1 Nonsynonymous SNV P1591A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.026 295361 chr11 1017579 1017579 C T rs779142565 MUC6 Nonsynonymous SNV S1741N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.211 295362 chr8 145640711 145640711 A G SLC39A4 Synonymous SNV H164H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 295363 chr8 145661516 145661516 T C rs370426008 TONSL Nonsynonymous SNV Q767R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 295364 chr19 51518178 51518178 C T rs768201692 KLK10 Nonsynonymous SNV E237K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 295365 chr19 51840584 51840584 G A VSIG10L Nonsynonymous SNV P738L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.14 295366 chr20 5294865 5294865 C T rs144994507 PROKR2 Nonsynonymous SNV A51T 0.003 0.005 0 0 3 2 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 295367 chr19 52091485 52091485 A G ZNF175 Nonsynonymous SNV Q634R 0 0 0 1 0 0 0.003 0 0 0 0 0 22 295368 chr20 21284082 21284082 T A rs888094572 XRN2 Nonsynonymous SNV S16T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 28.1 295369 chr8 23069635 23069635 G A rs200630980 TNFRSF10A Nonsynonymous SNV P133S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 295370 chr20 30486337 30486337 C A rs201229092 TTLL9 Stop gain S68X 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 295371 chr20 25003597 25003597 G C rs41315096 ACSS1 Synonymous SNV L192L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.007 295372 chr20 31238244 31238244 A G rs764433662 C20orf203 Nonsynonymous SNV L192P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 295373 chr21 46900416 46900416 C T rs985715199 COL18A1 Synonymous SNV G658G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.11 295374 chr8 27308318 27308318 A C rs778215355 PTK2B Nonsynonymous SNV E756A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 295375 chr20 31598860 31598860 G A rs202092895 BPIFB2 Nonsynonymous SNV R47Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.35 295376 chr11 117713447 117713447 C T FXYD6, FXYD6-FXYD2 Nonsynonymous SNV M15I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 295377 chr20 31812911 31812911 G C rs150349800 BPIFA3 Nonsynonymous SNV D96H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 4.048 295378 chr20 34214217 34214217 C T rs573636405 CPNE1 Synonymous SNV P519P 0 0 0.007 0 0 0 0 2 0 0 0 0 16.47 295379 chr20 44523719 44523719 C T rs200636455 CTSA Synonymous SNV Y346Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.89 295380 chr20 31631108 31631108 G C rs374070367 BPIFB6 Nonsynonymous SNV V422L 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 295381 chr20 36760882 36760882 T C rs199832452 TGM2 Nonsynonymous SNV I465V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.857 295382 chr20 34269876 34269876 T A NFS1 Nonsynonymous SNV T146S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 295383 chr19 55738567 55738567 C A rs371591326 TMEM86B Synonymous SNV P220P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.73 295384 chr20 32264607 32264607 G A rs147013405 E2F1 Synonymous SNV L415L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.522 295385 chr20 33585319 33585319 C T rs372505798 MYH7B Nonsynonymous SNV A1250V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 295386 chr19 55967826 55967826 G A rs752019602 ISOC2 Stop gain R10X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 295387 chr20 39652465 39652465 A T rs553822572 LOC100128988 0 0.003 0 0 0 1 0 0 0 0 0 0 8.15 295388 chr20 45916003 45916003 C T rs376502713 ZMYND8 Synonymous SNV A233A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 19.31 295389 chr8 6794303 6794303 T G rs749537928 DEFA4 Nonsynonymous SNV Q40P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.039 295390 chr8 68115361 68115361 C T rs775005735 ARFGEF1 Synonymous SNV A1695A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 295391 chr22 26164427 26164427 C T MYO18B Nonsynonymous SNV P182S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 295392 chr20 57266117 57266117 T C STX16-NPEPL1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.272 295393 chr20 57429858 57429858 C T rs587778384 GNAS Nonsynonymous SNV R451W 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 18 295394 chr20 55777578 55777578 T C rs570170347 BMP7 Nonsynonymous SNV N238S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.19 295395 chr22 29737590 29737590 A T AP1B1 Nonsynonymous SNV Y566N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 295396 chr20 60884853 60884853 C T rs200525579 LAMA5 Nonsynonymous SNV A3623T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 295397 chr19 58438022 58438022 C T rs149884051 ZNF418 Synonymous SNV P424P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.43 295398 chr19 58438149 58438149 G A rs116138810 ZNF418 Nonsynonymous SNV S382F 0 0 0 1 0 0 0.003 0 0 0 0 0 5.258 295399 chr11 17548860 17548860 G A rs368903400 USH1C Nonsynonymous SNV R136W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 295400 chr20 62854502 62854502 C T MYT1 Nonsynonymous SNV T812I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 295401 chr22 32545577 32545577 G A rs1019972639 C22orf42 Nonsynonymous SNV R236W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 295402 chr21 27394349 27394349 T A rs200543884 APP Nonsynonymous SNV K168N 0 0 0 1 0 0 0.003 0 0 0 0 0 22 295403 chr9 111616985 111616985 A G ACTL7B Nonsynonymous SNV V409A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 295404 chr9 111653628 111653628 C T rs781623768 ELP1 Synonymous SNV A656A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.3 295405 chr9 111795775 111795775 G T rs770052457 TMEM245 Synonymous SNV G802G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.932 295406 chr20 62714981 62714981 C T LKAAEAR1 Synonymous SNV P160P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.86 295407 chr21 34923919 34923919 G A rs757308550 SON Synonymous SNV Q794Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.63 295408 chr20 4778693 4778693 T C rs997933843 RASSF2 Nonsynonymous SNV Y33C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 295409 chr21 31744495 31744495 G A rs149187693 KRTAP13-2 Nonsynonymous SNV R13C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 295410 chr8 55533871 55533871 A G rs765636720 RP1 Synonymous SNV V115V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 295411 chr21 31802907 31802907 T G rs770755717 KRTAP13-4 Nonsynonymous SNV L105R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.07 295412 chr22 41195081 41195081 C T rs140883594 SLC25A17 Nonsynonymous SNV V21M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 295413 chr21 38098549 38098549 A G SIM2 Nonsynonymous SNV I225V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 295414 chr21 38115763 38115763 C T rs111561480 SIM2 Synonymous SNV T358T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.19 295415 chr21 34624976 34624976 G A rs147789575 IFNAR2 Nonsynonymous SNV E184K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 295416 chr11 32460466 32460466 G T rs558752929 WT1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 5.376 295417 chr21 38437960 38437960 T G rs73901831 PIGP Synonymous SNV P133P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.94 295418 chr21 38439640 38439640 T C rs73901833 PIGP Nonsynonymous SNV I90V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 295419 chr21 41173249 41173249 A G rs201807214 IGSF5 Nonsynonymous SNV S397G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 295420 chr21 38525444 38525444 A G rs56032400 TTC3 Synonymous SNV A147A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.701 295421 chr21 35281472 35281472 G A rs148745197 ATP5PO Nonsynonymous SNV P81L 0.003 0.003 0 0 4 1 0 0 0 0 0 0 30 295422 chr21 43242347 43242347 T C rs141367416 PRDM15 Nonsynonymous SNV K640R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 295423 chr21 37758511 37758511 C T CHAF1B Nonsynonymous SNV A26V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 15.79 295424 chr9 123370023 123370023 C G rs765853987 MEGF9 Nonsynonymous SNV K451N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 295425 chr21 38853112 38853112 A G DYRK1A Nonsynonymous SNV K129R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.4 295426 chr9 123673632 123673632 C T rs149705933 TRAF1 Nonsynonymous SNV V167I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 295427 chr22 45943011 45943011 C T rs139939070 FBLN1 Synonymous SNV N456N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.16 295428 chr9 123737123 123737123 G A rs763493139 C5 Synonymous SNV Y1323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.268 295429 chr11 45672322 45672322 G A rs781106335 CHST1 Nonsynonymous SNV P51L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 295430 chr11 47201859 47201859 G A rs375277583 PACSIN3 Nonsynonymous SNV R161W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 295431 chr22 46760031 46760042 GTGCGCGAGGAT - rs375307146 CELSR1 R2965_S2968del 0.002 0 0 0 2 0 0 0 0 0 0 0 295432 chr22 46772967 46772967 C T rs142288470 CELSR1 Synonymous SNV T2525T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.7 295433 chr21 43187195 43187195 C T rs199825512 RIPK4 Nonsynonymous SNV G3S 0.002 0.003 0.007 0 2 1 0 2 0 0 0 0 Benign/Likely benign 19.67 295434 chr22 46860010 46860010 G A rs147056983 CELSR1 Synonymous SNV N1259N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.007 295435 chr21 46276173 46276173 C T rs151308626 PTTG1IP Synonymous SNV K128K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.08 295436 chr22 47311617 47311617 G T rs141201039 TBC1D22A-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 6.62 295437 chr9 126125326 126125326 C T rs576099498 CRB2 Nonsynonymous SNV R93C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 295438 chr9 126133215 126133215 G A rs765111298 CRB2 Nonsynonymous SNV R628H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 295439 chr9 15451324 15451324 T C SNAPC3 Nonsynonymous SNV Y197H 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 295440 chr21 43838688 43838688 C G UBASH3A Nonsynonymous SNV A301G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 295441 chr22 50580588 50580588 G A rs201770012 MOV10L1 Nonsynonymous SNV A717T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.475 295442 chr21 45212580 45212580 C G RRP1 Nonsynonymous SNV L82V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 295443 chr9 109690060 109690060 C G rs544478870 ZNF462 Synonymous SNV P1289P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.43 295444 chr20 43379269 43379269 C A rs756177503 KCNK15 Synonymous SNV P261P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.24 295445 chr20 43835760 43835760 G T SEMG1 Nonsynonymous SNV M22I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.38 295446 chr9 13119501 13119501 C T rs866183007 MPDZ Synonymous SNV K1760K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 295447 chr21 47558495 47558495 G A rs779047080 FTCD Nonsynonymous SNV T457M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 295448 chr20 55206566 55206566 C T TFAP2C Synonymous SNV H118H 0 0 0 1 0 0 0.003 0 0 0 0 0 7.707 295449 chr20 55803380 55803380 G A rs111656769 BMP7 Synonymous SNV A172A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 295450 chr20 56137185 56137185 G A rs536299130 PCK1 Nonsynonymous SNV V95I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.9 295451 chrX 30237528 30237528 G T MAGEB2 Synonymous SNV P277P 0.002 0 0 0 2 0 0 0 1 0 0 0 2.191 295452 chr22 26853881 26853881 G A rs35993959 HPS4 Synonymous SNV V628V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.47 295453 chr22 26888033 26888033 G A rs16982207 TFIP11 Synonymous SNV G789G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 295454 chr22 29126425 29126425 C T rs137926355 CHEK2 Nonsynonymous SNV R144Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.663 295455 chr11 5528843 5528843 A G UBQLN3 Nonsynonymous SNV V649A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 295456 chr9 136333805 136333805 C T rs781883183 CACFD1 Nonsynonymous SNV P183L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 295457 chrX 67331772 67331772 C T rs920735000 OPHN1 Nonsynonymous SNV A484T 0.002 0 0 0 2 0 0 0 1 0 0 0 26.1 295458 chr22 21799873 21799875 GCA - rs771768191 HIC2 S233del 0.002 0.005 0 0 2 2 0 0 0 0 0 0 295459 chr22 31493020 31493020 A C rs754744824 SMTN Nonsynonymous SNV E744A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 295460 chr9 138774688 138774688 C T CAMSAP1 Nonsynonymous SNV D133N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 295461 chr22 30123752 30123752 G A CABP7 Nonsynonymous SNV E71K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 295462 chr22 24439450 24439450 C T rs751307205 CABIN1 Nonsynonymous SNV R144C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 295463 chr22 38323790 38323790 C T rs779509365 MICALL1 Nonsynonymous SNV P613L 0 0 0.007 0 0 0 0 2 0 0 0 0 17.58 295464 chrX 138820096 138820096 A G ATP11C Synonymous SNV N1092N 0.002 0 0 0 2 0 0 0 1 0 0 0 0.185 295465 chr21 32090978 32090978 C T rs750428521 KRTAP21-3 Nonsynonymous SNV G34S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.35 295466 chrX 154090080 154090080 T A F8 Synonymous SNV S77S 0.002 0 0 0 2 0 0 0 1 0 0 0 11.97 295467 chrY 6736371 6736371 G T rs200941883 AMELY Nonsynonymous SNV P94T 0.002 0 0 0 2 0 0 0 1 0 0 0 23.3 295468 chr22 38536013 38536013 G A rs147924368 PLA2G6 Nonsynonymous SNV S258L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.33 295469 chr11 58956717 58956717 C A rs757268627 DTX4 Synonymous SNV P254P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 295470 chr22 41928692 41928692 - TCT POLR3H K88_I89insK 0 0 0 1 0 0 0.003 0 0 0 0 0 295471 chr11 58967193 58967193 G A rs747318101 DTX4 Nonsynonymous SNV A419T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295472 chr11 59190128 59190128 G A OR5A2 Nonsynonymous SNV T100I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 295473 chr22 50722357 50722357 C T rs374234427 PLXNB2 Nonsynonymous SNV D776N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 5.187 295474 chr9 34657128 34657128 G A rs371329032 IL11RA Nonsynonymous SNV R143H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.2 295475 chr11 6007984 6007984 G T rs375438567 OR52L1 Synonymous SNV G59G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 295476 chr9 35706261 35706261 T G TLN1 Nonsynonymous SNV T1765P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 295477 chr9 35906565 35906565 - CCACATCCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCCCCA HRCT1 Frameshift insertion T96Ifs*129 0.001 0 0 0 1 0 0 0 0 0 0 0 295478 chr11 61183592 61183592 T C CPSF7 Nonsynonymous SNV Y317C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 295479 chr9 5720296 5720296 C G rs111579735 RIC1 Synonymous SNV P185P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 295480 chr21 45502929 45502929 G A rs149129671 TRAPPC10 Nonsynonymous SNV A195T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.249 295481 chr22 50356703 50356703 C T PIM3 Synonymous SNV S303S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.404 295482 chr2 108872031 108872031 G A rs774542688 SULT1C3 Nonsynonymous SNV V135I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 295483 chr2 109003888 109003888 G A SULT1C4 Synonymous SNV X228X 0 0 0.003 0 0 0 0 1 0 0 0 0 7.322 295484 chr11 62505850 62505850 - T rs759898235 TTC9C *172delinsLTKKKDAPPVELRWTIKHA* 0 0 0.003 0 0 0 0 1 0 0 0 0 295485 chr22 50656736 50656736 T C rs146532216 TUBGCP6 Nonsynonymous SNV I1684V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.43 295486 chr2 112705143 112705143 A G rs3761702 MERTK Synonymous SNV P252P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.676 295487 chr21 47532420 47532420 G A rs563449281 COL6A2 Nonsynonymous SNV D215N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.03 295488 chr22 50882314 50882314 C T rs200415574 PPP6R2 Nonsynonymous SNV R841W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 295489 chr22 50921302 50921302 G A rs886382051 ADM2 Synonymous SNV V139V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 295490 chr22 50319078 50319078 C T rs149127584 CRELD2 Synonymous SNV C266C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.464 295491 chr9 90317967 90317967 G A DAPK1 Synonymous SNV L965L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 295492 chr11 6500511 6500511 A G rs772575644 ARFIP2 Synonymous SNV G91G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 295493 chr11 65271564 65271564 - GG rs753695575 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 295494 chr2 136872565 136872565 G C CXCR4 Synonymous SNV T315T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.079 295495 chrX 15554538 15554538 T C rs772258045 BMX Nonsynonymous SNV S403P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.86 295496 chr11 66258965 66258965 G A rs151275489 DPP3 Nonsynonymous SNV A237T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.31 295497 chr22 22892351 22892351 C T rs376958237 PRAME Synonymous SNV A234A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.979 295498 chr11 6647852 6647852 T C DCHS1 Nonsynonymous SNV N2099D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 295499 chr11 66610507 66610507 G T C11orf80 Synonymous SNV A479A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.298 295500 chr11 66743024 66743024 G - C11orf86 V65Cfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 295501 chrX 18195834 18195834 G A rs148886591 BEND2 Synonymous SNV A404A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 9.492 295502 chrX 39923825 39923825 C T rs772117755 BCOR Nonsynonymous SNV R1071H 0.003 0.003 0 0 3 1 0 0 1 0 0 0 5.368 295503 chrX 118708716 118708716 G A UBE2A Synonymous SNV K14K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 295504 chrX 47919224 47919224 G C rs138140859 ZNF630 Nonsynonymous SNV P203A 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.002 295505 chrX 49030701 49030701 C T rs11539258 PLP2 Nonsynonymous SNV T122M 0 0.005 0 0 0 2 0 0 0 0 0 0 15.31 295506 chrX 51149971 51149971 G A rs149190680 EZHIP Nonsynonymous SNV G35R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 295507 chr22 29490298 29490298 A G KREMEN1 Synonymous SNV A50A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.544 295508 chr22 30398935 30398935 T C rs61753802 MTMR3 Synonymous SNV S208S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.83 295509 chrX 63412014 63412014 C G rs368719613 AMER1 Nonsynonymous SNV E385Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.59 295510 chrX 66766357 66766377 GGCGGCGGCGGCGGCGGCGGC - rs748538566 AR G467_G473del 0.002 0.003 0.007 0 2 1 0 2 0 0 1 0 295511 chr22 30951002 30951002 G C GAL3ST1 Nonsynonymous SNV L404V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 295512 chrX 70586311 70586311 C G rs28382145 TAF1 Synonymous SNV A29A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 18.8 295513 chrX 149671723 149671723 C A rs139460988 MAMLD1 Synonymous SNV G715G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.1 295514 chr11 75115876 75115876 G A rs139803355 RPS3 Synonymous SNV P107P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.485 295515 chr22 32500848 32500848 C G rs765947220 SLC5A1 Nonsynonymous SNV Q454E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 295516 chrX 153171277 153171277 G A rs201053959 AVPR2 Nonsynonymous SNV R106H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.158 295517 chrX 103294918 103294918 G A rs782712126 H2BW2 Synonymous SNV L125L 0.003 0.003 0 0 3 1 0 0 1 0 0 0 0.071 295518 chr11 76903189 76903189 G A rs376291076 MYO7A Nonsynonymous SNV A1340T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.4 295519 chr11 76908564 76908564 C A rs374492441 MYO7A Synonymous SNV V1454V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.39 295520 chrX 153184424 153184424 T C rs781945224 ARHGAP4 Synonymous SNV Q298Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 295521 chrX 108691389 108691389 C G GUCY2F Nonsynonymous SNV R493P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.7 295522 chr2 180830645 180830645 G A rs377478242 CWC22 Synonymous SNV D425D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.719 295523 chr11 7960152 7960152 G A rs201900494 OR10A3 Stop gain R306X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 295524 chrX 119419535 119419535 G A rs782433655 TMEM255A Nonsynonymous SNV T147I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.95 295525 chrX 119037297 119037297 T C rs138665493 AKAP14 Synonymous SNV T37T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 295526 chr22 41573351 41573351 C T rs141530780 EP300 Nonsynonymous SNV P1853L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 295527 chrX 125955143 125955143 G A PRR32 Synonymous SNV R174R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.42 295528 chr22 42190481 42190481 G C MEI1 Synonymous SNV L1178L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.14 295529 chr11 92526088 92526088 G A rs377183395 FAT3 Synonymous SNV T1589T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 295530 chr11 92714975 92714975 G A rs777474311 MTNR1B Nonsynonymous SNV A196T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.536 295531 chr2 192818473 192818473 G A rs772064574 TMEFF2 Synonymous SNV V320V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 295532 chr2 19548254 19548254 T C MIR4757 0 0 0.003 0 0 0 0 1 0 0 0 0 1.2 295533 chrX 63490914 63490914 C T rs142247409 MTMR8 Synonymous SNV L507L 0.004 0 0.003 0 5 0 0 1 1 0 0 0 1.047 295534 chr22 44893138 44893138 G A RTL6 Nonsynonymous SNV S100F 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.2 295535 chr2 202446859 202446859 A C C2CD6 Nonsynonymous SNV L200V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 295536 chr22 46653302 46653302 A G rs753791308 PKDREJ Nonsynonymous SNV I1973T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 295537 chr22 50191737 50191737 T C BRD1 Nonsynonymous SNV H600R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.67 295538 chr10 111876062 111876062 C T ADD3 Nonsynonymous SNV T127I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 21.2 295539 chr22 50523212 50523212 C T rs557978926 MLC1 Synonymous SNV S40S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.49 295540 chr22 50721178 50721178 G A rs746421581 PLXNB2 Synonymous SNV P983P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.05 295541 chr12 109719360 109719360 C T rs138952203 FOXN4 Synonymous SNV P382P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 295542 chrX 37700332 37700332 C T rs141761454 DYNLT3 Nonsynonymous SNV A75T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 295543 chr2 216964837 216964837 C T rs761317188 TMEM169 Nonsynonymous SNV R156C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295544 chr10 105796345 105796345 C T COL17A1 Nonsynonymous SNV R1108Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.115 295545 chr10 119044828 119044828 G C PDZD8 Nonsynonymous SNV S472R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.449 295546 chr12 113403750 113403750 C T rs771904071 OAS3 Nonsynonymous SNV R869C 0 0 0.007 0 0 0 0 2 0 0 0 0 35 295547 chr2 220283591 220283591 T A rs397516695 DES Nonsynonymous SNV L136H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.8 295548 chr12 113745552 113745552 C T rs201436568 SLC8B1 Nonsynonymous SNV R396Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 295549 chrX 47099719 47099719 C G USP11 Nonsynonymous SNV T184R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.45 295550 chrX 48418647 48418647 C G TBC1D25 Nonsynonymous SNV Q467E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.184 295551 chr2 225266152 225266152 C A rs745606630 FAM124B Nonsynonymous SNV A112S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.717 295552 chr1 22158219 22158219 C T rs185442868 HSPG2 Nonsynonymous SNV V3761M 0 0 0 1 0 0 0.003 0 0 0 0 0 31 295553 chr10 121551706 121551706 A G rs779113328 INPP5F Nonsynonymous SNV Q217R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.94 295554 chr2 231775000 231775000 G - GPR55 Stop gain Y226* 0 0 0.003 0 0 0 0 1 0 0 0 0 295555 chr12 122676099 122676099 G A rs13377703 LRRC43 Synonymous SNV A358A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.184 295556 chr12 123089955 123089955 C T rs7310898 KNTC1 Nonsynonymous SNV P1830L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 295557 chr2 233404778 233404778 G A rs141402683 CHRNG Synonymous SNV A44A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.692 295558 chr12 124021036 124021036 T - rs547945277 MIR3908 0 0 0.01 0 0 0 0 3 0 0 0 0 295559 chr2 234405459 234405459 A T rs199834849 USP40 Nonsynonymous SNV L911H 0 0 0.007 0 0 0 0 2 0 0 0 0 27.3 295560 chr12 124414258 124414258 A G rs61472386 DNAH10 Synonymous SNV Q4070Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.034 295561 chr1 24419528 24419528 G A rs201910790 MYOM3 Synonymous SNV S333S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.52 295562 chrX 107402862 107402862 C T rs766360534 COL4A6 Nonsynonymous SNV A1491T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 295563 chr12 131498802 131498802 T G rs78638447 ADGRD1 Nonsynonymous SNV S464A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 295564 chr12 13214567 13214567 G A FAM234B Synonymous SNV L197L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 295565 chr1 27153480 27153480 T A ZDHHC18 Nonsynonymous SNV L62H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 295566 chrX 109697668 109697668 C T rs142158763 RTL9 Synonymous SNV L1275L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.457 295567 chr12 132529393 132529393 G A rs141231230 EP400 Nonsynonymous SNV D2227N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 295568 chr2 241888486 241888486 C T rs560184143 CROCC2 Synonymous SNV S818S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 295569 chrX 123839071 123839071 G A TENM1 Synonymous SNV S269S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.772 295570 chr10 21805731 21805731 G A rs996209554 SKIDA1 Nonsynonymous SNV H341Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.42 295571 chr12 18524188 18524188 G A rs779079011 PIK3C2G Nonsynonymous SNV C567Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 295572 chr10 119013625 119013625 C T SLC18A2 Nonsynonymous SNV S197F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 295573 chr12 21728830 21728830 A - rs763929651 GYS2 F155Lfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 295574 chr12 26383790 26383790 G A rs147508239 SSPN Synonymous SNV P68P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.34 295575 chr12 26551884 26551884 T C ITPR2 Nonsynonymous SNV I2541V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 295576 chr11 1028367 1028367 C T rs199905992 MUC6 Nonsynonymous SNV G538R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 295577 chr10 34759179 34759179 T C PARD3 Nonsynonymous SNV H139R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 295578 chr10 46135351 46135353 AGA - rs752342334 ZFAND4 S210del 0.002 0 0 0 2 0 0 0 0 0 0 0 295579 chr2 33774760 33774760 A G RASGRP3 Nonsynonymous SNV H494R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 295580 chr12 41582768 41582768 G A rs575727020 PDZRN4 Nonsynonymous SNV E171K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 34 295581 chr10 27326956 27326956 C T rs768732787 ANKRD26 Synonymous SNV K800K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.65 295582 chr12 41966303 41966303 C T rs775182732 PDZRN4 Synonymous SNV A316A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.146 295583 chr10 129903985 129903985 T G MKI67 Nonsynonymous SNV K1680T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 295584 chr12 45457921 45457921 G A rs3803173 RACGAP1P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 295585 chr12 46121236 46121236 - T rs745978776 LINC00938 0 0 0.003 0 0 0 0 1 0 0 0 0 295586 chr10 30315575 30315575 G C rs368139420 JCAD Nonsynonymous SNV R1168G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 21.8 295587 chr1 1019527 1019527 C T rs374166904 C1orf159 Synonymous SNV P236P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.244 295588 chr11 113222846 113222846 A G rs782497813 TTC12 Nonsynonymous SNV M430V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.163 295589 chr12 48920124 48920124 C T rs370071506 OR8S1 Nonsynonymous SNV A237V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 295590 chr2 44132864 44132864 T G rs781451529 LRPPRC Nonsynonymous SNV I1111L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 295591 chr2 47672728 47672728 C T MSH2 Nonsynonymous SNV L440F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.6 295592 chr2 48681811 48681811 G C rs771832153 PPP1R21 Nonsynonymous SNV Q68H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 295593 chr12 50030591 50030591 C T rs368904714 PRPF40B Nonsynonymous SNV R485W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295594 chr12 50044464 50044464 A T FMNL3 Synonymous SNV I614I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.041 295595 chr1 2451329 2451329 C T rs375627514 PANK4 Nonsynonymous SNV R255Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 295596 chr2 55071350 55071350 T C EML6 Synonymous SNV P338P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.689 295597 chr1 3102754 3102754 G A rs777374351 PRDM16 Nonsynonymous SNV E35K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 295598 chr12 521010 521010 G A rs141242862 CCDC77 Nonsynonymous SNV E14K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.131 295599 chr12 52188378 52188378 T C rs201458257 SCN8A Nonsynonymous SNV I1542T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.24 295600 chr2 71361180 71361180 A G rs139834642 MPHOSPH10 Nonsynonymous SNV K291E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 295601 chr1 10532420 10532420 G A DFFA Synonymous SNV H32H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.13 295602 chr1 11576094 11576094 G A rs41274532 DISP3 Nonsynonymous SNV R542H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 34 295603 chr12 54367266 54367266 G C HOXC11 Nonsynonymous SNV G81R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 295604 chr1 11888575 11888575 G A rs755646612 CLCN6 Nonsynonymous SNV V317M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.68 295605 chr2 86979034 86979034 A G RMND5A Nonsynonymous SNV I101V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 295606 chr12 56385907 56385907 C A RAB5B Nonsynonymous SNV Q146K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 295607 chr12 56397747 56397747 C T rs139444405 SUOX Nonsynonymous SNV R192W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 27.3 295608 chr10 71025354 71025354 C T rs747327401 HKDC1 Nonsynonymous SNV L796F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.3 295609 chr10 79396192 79396192 C A KCNMA1 Stop gain G154X 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 295610 chr11 1252661 1252661 A T MUC5B Nonsynonymous SNV T517S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.974 295611 chr3 10044628 10044628 T A EMC3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.891 295612 chr3 10044983 10044983 C T rs73811803 EMC3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.605 295613 chr1 17405907 17405907 G A rs370461260 PADI2 Nonsynonymous SNV P388S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 295614 chr12 5848485 5848485 C A rs761555644 ANO2 Stop gain E479X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 295615 chr3 111604152 111604152 C T rs773660300 PHLDB2 Nonsynonymous SNV R410W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 295616 chr10 96005871 96005871 G C rs1038818069 PLCE1 Nonsynonymous SNV Q555H 0.002 0 0 0 2 0 0 0 0 0 0 0 21 295617 chr1 22205591 22205591 C T rs151039517 HSPG2 Synonymous SNV G790G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.1 295618 chr12 70989862 70989862 G A rs201101635 PTPRB Nonsynonymous SNV R191C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 295619 chr12 78598890 78598890 C T rs1022464871 NAV3 Nonsynonymous SNV P2315L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 295620 chr3 124951827 124951827 G A rs376278331 ZNF148 Synonymous SNV V581V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.114 295621 chr10 98346552 98346552 G A rs559506497 TM9SF3 Nonsynonymous SNV A14V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.77 295622 chr3 125899228 125899228 G T rs977876093 ALDH1L1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 7.022 295623 chr12 95927689 95927689 C T rs375010013 USP44 Nonsynonymous SNV R115H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 295624 chr12 98927864 98927864 G A rs150445385 TMPO Nonsynonymous SNV R610H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.221 295625 chr1 118166444 118166444 C T rs192636325 TENT5C Synonymous SNV T318T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.32 295626 chr11 3111849 3111849 T C rs780431690 OSBPL5 Synonymous SNV G711G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.321 295627 chr13 103506172 103506172 G A rs772275078 BIVM-ERCC5, ERCC5 Synonymous SNV L110L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 295628 chr1 34667802 34667802 A G rs145574381 C1orf94 Nonsynonymous SNV N463S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 295629 chr1 35250952 35250952 G A rs376506263 GJB3 Nonsynonymous SNV V197I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.021 295630 chr11 3752742 3752742 G A NUP98 Nonsynonymous SNV P490S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 295631 chr3 142274855 142274855 G A rs148955716 ATR Synonymous SNV H671H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.496 295632 chr11 108106435 108106435 A G rs148590073 ATM Nonsynonymous SNV I124V 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.491 295633 chr3 145799624 145799624 C T rs746480869 PLOD2 Nonsynonymous SNV R420H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 295634 chr11 450576 450576 G A rs927240972 PTDSS2 Nonsynonymous SNV G41S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.818 295635 chr13 27259934 27259934 C T rs766540206 WASF3 Synonymous SNV S484S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 295636 chr3 150127731 150127731 C T rs34667041 TSC22D2 Synonymous SNV S198S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 295637 chr3 15094937 15094937 C T rs199503149 MRPS25 Synonymous SNV K93K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.42 295638 chr3 15259089 15259089 A T rs575675272 CAPN7 Synonymous SNV T123T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.15 295639 chr13 32914194 32914194 A T rs773600818 BRCA2 Nonsynonymous SNV E1901V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.4 295640 chr11 113270777 113270777 G A rs146480879 ANKK1 Nonsynonymous SNV A696T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 295641 chr1 45476270 45476270 G A rs778922305 HECTD3 Nonsynonymous SNV H160Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.88 295642 chr3 167045761 167045761 G C rs201322537 ZBBX Nonsynonymous SNV N277K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 295643 chr1 156354586 156354586 G A RHBG Synonymous SNV E442E 0 0 0 1 0 0 0.003 0 0 0 0 0 1.513 295644 chr11 117321348 117321348 C G rs148185662 DSCAML1 Nonsynonymous SNV V1209L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 295645 chr13 43681381 43681381 T C rs199640403 DNAJC15 Synonymous SNV H150H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.139 295646 chr3 180381693 180381693 G A CCDC39 Nonsynonymous SNV H58Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 295647 chr13 49796283 49796283 A C rs780624144 MLNR Nonsynonymous SNV N337H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 295648 chr3 182988438 182988438 G C rs745325444 B3GNT5 Synonymous SNV V284V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.418 295649 chr1 55603505 55603505 T C USP24 Nonsynonymous SNV I1001V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.155 295650 chr13 74387318 74387318 C T rs371400583 KLF12 Synonymous SNV T259T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.66 295651 chr1 55680563 55680563 C A USP24 Nonsynonymous SNV G75V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 295652 chr1 59042046 59042046 - AGGT TACSTD2 Frameshift insertion D262Pfs*116 0 0.003 0 0 0 1 0 0 0 0 0 0 295653 chr13 77671965 77671965 A G MYCBP2 Synonymous SNV D3108D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.176 295654 chr1 159902414 159902414 C G rs145285329 IGSF9 Nonsynonymous SNV G378A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 295655 chr11 123848067 123848067 C T rs764877400 OR10S1 Nonsynonymous SNV C111Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 295656 chr14 102489131 102489131 G A rs780522040 DYNC1H1 Nonsynonymous SNV D2851N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.8 295657 chr14 103180765 103180765 C T rs753884913 RCOR1 Synonymous SNV P288P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 295658 chr3 19921255 19921255 A G rs144937550 EFHB Synonymous SNV D790D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.947 295659 chr1 75037557 75037557 G A rs17095605 ERICH3 Synonymous SNV P1279P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.646 295660 chr1 75088938 75088938 C - rs59266853 ERICH3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 295661 chr3 38044682 38044682 G T VILL Nonsynonymous SNV E358D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 295662 chr3 40231795 40231795 G T rs200724387 MYRIP Nonsynonymous SNV L315F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.129 295663 chr1 94528138 94528138 G A rs117400594 ABCA4 Synonymous SNV D644D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.9 295664 chr1 94697111 94697111 T G rs767680872 ARHGAP29 Nonsynonymous SNV Q19H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 295665 chr1 186266047 186266047 C T rs755587504 PRG4 Synonymous SNV L14L 0.003 0 0 1 3 0 0.003 0 0 0 0 0 11.48 295666 chr14 23102722 23102722 C A rs745971056 OR6J1 Nonsynonymous SNV R332M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 295667 chr11 113934750 113934750 C T rs749320934 ZBTB16 Nonsynonymous SNV T243M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 295668 chr3 47044168 47044168 C T rs199944912 NBEAL2 Nonsynonymous SNV R1745C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 26.5 295669 chr1 110754575 110754575 C G KCNC4 Nonsynonymous SNV R152G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 295670 chr3 47884735 47884735 A G rs142466412 DHX30 Nonsynonymous SNV K310R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 295671 chr14 24970795 24970795 T G rs139902039 LOC101927045 0 0 0.01 0 0 0 0 3 0 0 0 0 8.251 295672 chr3 49057655 49057655 C G rs749445526 MIR425 0 0 0.003 0 0 0 0 1 0 0 0 0 18.49 295673 chr14 31858073 31858073 T C rs191067821 HEATR5A Nonsynonymous SNV D304G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.7 295674 chr1 114523703 114523703 A T rs770492684 OLFML3 Nonsynonymous SNV D117V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 295675 chr14 35579082 35579082 G A rs762781414 PPP2R3C Nonsynonymous SNV A6V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 295676 chr14 39868845 39868845 C T FBXO33 Nonsynonymous SNV E515K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 295677 chr14 50929418 50929418 C G MAP4K5 Nonsynonymous SNV A301P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.95 295678 chr11 26681862 26681862 A G rs150506041 ANO3 Synonymous SNV P793P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.319 295679 chr14 52505655 52505655 A G rs150250347 NID2 Synonymous SNV F689F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 6.934 295680 chr14 55637435 55637435 C G DLGAP5 Nonsynonymous SNV D458H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 295681 chr3 57542538 57542538 C A rs148724470 PDE12 Nonsynonymous SNV D144E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 295682 chr1 151755448 151755448 T C rs189021046 TDRKH Nonsynonymous SNV I17M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.57 295683 chr3 64636796 64636798 CTT - rs980213295 ADAMTS9 E425del 0 0 0.003 0 0 0 0 1 0 0 0 0 295684 chr11 34161982 34161982 C T NAT10 Nonsynonymous SNV P747S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 295685 chr14 59834304 59834304 G A rs199742099 DAAM1 Nonsynonymous SNV R995H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 295686 chr11 3661494 3661494 C T rs761530341 ART5 Synonymous SNV K55K 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 10.02 295687 chr3 9489497 9489497 A C rs201561587 SETD5 Nonsynonymous SNV N637T 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 0.483 295688 chr3 98188602 98188602 T C rs201581302 OR5K1 Nonsynonymous SNV I61T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.56 295689 chr11 44331272 44331292 GGCTGCGGCTGCTGCTGCTGC - rs750457210 ALX4 Q109_Q115del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 295690 chr14 68215251 68215251 C T rs774272801 ZFYVE26 Nonsynonymous SNV A2508T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 295691 chr1 155903578 155903578 G C rs937080540 KHDC4 Nonsynonymous SNV P34R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 295692 chr14 74345989 74345989 G C rs199906327 PTGR2 Nonsynonymous SNV S237T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 295693 chr14 74973503 74973503 T G rs761055280 LTBP2 Nonsynonymous SNV T1311P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 295694 chr11 6340701 6340701 C T CAVIN3 Nonsynonymous SNV A160T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 295695 chr4 10447120 10447122 AAC - ZNF518B L278del 0 0 0.003 0 0 0 0 1 0 0 0 0 295696 chr1 156925553 156925553 G A rs981398418 ARHGEF11 Synonymous SNV D530D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.826 295697 chr1 158369210 158369210 A G rs6660222 OR10T2 Nonsynonymous SNV V16A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.91 295698 chr1 158389900 158389900 C T rs144201061 OR10K2 Nonsynonymous SNV G253S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 295699 chr1 158390645 158390645 G C rs142299510 OR10K2 Synonymous SNV V4V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.187 295700 chr14 87386664 87386664 A G rs76413855 LINC01148 0 0 0.01 0 0 0 0 3 0 0 0 0 7.855 295701 chr1 230203141 230203141 C T rs750017736 GALNT2 Synonymous SNV G38G 0 0 0 2 0 0 0.005 0 0 0 0 1 15.11 295702 chr4 126411519 126411519 C T rs138057366 FAT4 Synonymous SNV T4515T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.94 295703 chr1 158725387 158725387 A G rs16841042 OR6K6 Nonsynonymous SNV H261R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 295704 chr4 15480889 15480889 C G rs749907863 CC2D2A Nonsynonymous SNV H56D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.25 295705 chr11 47345359 47345359 C T MADD Synonymous SNV T1402T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.04 295706 chr4 164507057 164507057 T C rs372074247 MARCHF1 Synonymous SNV E72E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.16 295707 chr1 171077319 171077319 C T rs775749562 FMO3 Nonsynonymous SNV S132L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 295708 chr4 167921552 167921552 C T rs776992870 SPOCK3 Nonsynonymous SNV A11T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 295709 chr4 1725204 1725204 A C TACC3 Nonsynonymous SNV N19T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.097 295710 chr11 55762008 55762008 - A rs752982370 OR5F1 Frameshift insertion L32Sfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 295711 chr15 41102948 41102948 A C rs376481745 ZFYVE19 Synonymous SNV G273G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 295712 chr15 42291726 42291726 G A rs199592236 PLA2G4E Nonsynonymous SNV P324S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.284 295713 chr1 186275857 186275857 G A rs116879071 PRG4 Nonsynonymous SNV E202K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.58 295714 chr4 20717752 20717752 T G rs745589575 PACRGL Nonsynonymous SNV F158C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.952 295715 chr4 21466370 21466370 C T rs1030513798 MIR7978 0 0 0.003 0 0 0 0 1 0 0 0 0 2.46 295716 chr15 43237642 43237642 C T rs141828250 UBR1 Nonsynonymous SNV R1712H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.6 295717 chr11 801483 801483 G C rs201920329 PIDD1 Nonsynonymous SNV P482A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.675 295718 chr4 26483716 26483716 C A rs769100412 CCKAR Synonymous SNV P277P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 295719 chr15 44084496 44084496 T G SERF2-C15ORF63 0 0 0.003 0 0 0 0 1 0 0 0 0 8.481 295720 chr1 202702748 202702748 C A KDM5B Nonsynonymous SNV E1185D 0 0.003 0 0 0 1 0 0 0 0 0 0 23 295721 chr1 204438521 204438521 C A PIK3C2B Nonsynonymous SNV G137V 0 0.005 0 0 0 2 0 0 0 1 0 0 14.01 295722 chr15 63053914 63053914 A G rs755322576 TLN2 Nonsynonymous SNV N1558S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 295723 chr1 214560191 214560191 C T rs377258229 PTPN14 Synonymous SNV S354S 0 0.008 0 0 0 3 0 0 0 1 0 0 12.56 295724 chr2 32475685 32475685 C T rs377140938 NLRC4 Synonymous SNV V416V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 3.948 295725 chr4 673803 673803 G A rs372141639 MYL5 Synonymous SNV L96L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.576 295726 chr15 67713631 67713631 G C IQCH Nonsynonymous SNV G334R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 295727 chr4 69083656 69083656 A T rs551550752 TMPRSS11BNL 0 0 0.003 0 0 0 0 1 0 0 0 0 0.675 295728 chr11 61079271 61079271 G A rs753044755 DDB1 Synonymous SNV P754P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.7 295729 chr1 225555729 225555729 T C rs529269782 DNAH14 Synonymous SNV L4105L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.742 295730 chr15 75015393 75015393 A T CYP1A1 Nonsynonymous SNV S16T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 295731 chr1 226923544 226923544 C T rs745665378 ITPKB Nonsynonymous SNV S539N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.072 295732 chr15 75652907 75652907 T A rs143478022 MAN2C1 Nonsynonymous SNV Q429L 0 0 0.007 0 0 0 0 2 0 0 0 0 21.9 295733 chr15 76222401 76222401 T C rs775794407 FBXO22 Nonsynonymous SNV C269R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.665 295734 chr11 62559156 62559156 G A rs572043513 TMEM223 Nonsynonymous SNV A104V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.7 295735 chr11 63487146 63487146 C G RTN3 Nonsynonymous SNV S279C 0.002 0 0 0 2 0 0 0 0 0 0 0 26.2 295736 chr1 228511238 228511238 G T OBSCN Nonsynonymous SNV G5195C 0 0.005 0 0 0 2 0 0 0 0 0 0 32 295737 chr11 64496388 64496388 C T RASGRP2 Nonsynonymous SNV R573H 0.002 0 0 0 2 0 0 0 0 0 0 0 24 295738 chr11 64607689 64607689 G A rs777122840 CDC42BPG Nonsynonymous SNV R162C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 295739 chr1 234536986 234536986 G A rs143561161 TARBP1 Nonsynonymous SNV R1338C 0 0.005 0 0 0 2 0 0 0 0 0 0 33 295740 chr11 65351113 65351113 T C rs773656634 EHBP1L1 Synonymous SNV A990A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.124 295741 chr11 57094932 57094932 T C SSRP1 Synonymous SNV E613E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.019 295742 chr4 95147418 95147418 A G rs771942878 SMARCAD1 Synonymous SNV K113K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 295743 chr11 65647734 65647734 A G CTSW Nonsynonymous SNV N50S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 295744 chr11 65733235 65733235 C T SART1 Synonymous SNV F241F 0.002 0 0 0 2 0 0 0 0 0 0 0 18.64 295745 chr11 65734965 65734965 G A SART1 Nonsynonymous SNV R446Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 295746 chr4 9943592 9943592 C T rs747410628 SLC2A9 Synonymous SNV P253P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.384 295747 chr15 90766967 90766967 C G SEMA4B Synonymous SNV S190S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 295748 chr5 112379288 112379288 C T rs777743671 MCC Nonsynonymous SNV E709K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 295749 chr11 60565917 60565917 C T rs753876476 MS4A10 Synonymous SNV L218L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.297 295750 chr5 115320328 115320328 G A rs576367558 LVRN Synonymous SNV T300T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 295751 chr1 248128983 248128983 A T rs77989939 OR2AK2 Nonsynonymous SNV Y117F 0 0.005 0 0 0 2 0 0 0 1 0 0 0.001 295752 chr16 1129201 1129201 G A rs967405029 SSTR5 Synonymous SNV L111L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.538 295753 chr5 127420318 127420318 C G rs750220247 SLC12A2 Nonsynonymous SNV I224M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 295754 chr16 12162931 12162931 C G SNX29 Nonsynonymous SNV L421V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 295755 chr11 71728817 71728817 C T rs140773501 NUMA1 Synonymous SNV T345T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.68 295756 chr16 16139753 16139753 C T rs757411793 ABCC1 Synonymous SNV T367T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 295757 chr2 115919593 115919593 G A rs1041967857 DPP10 Synonymous SNV Q20Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 295758 chr16 2259406 2259406 C T rs200527596 BRICD5 Nonsynonymous SNV S215N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 295759 chr2 26502950 26502950 C T rs144093705 HADHB Synonymous SNV Y285Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.94 295760 chr16 2762722 2762722 G A rs908575568 PRSS27 Nonsynonymous SNV R156C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 295761 chr5 14316720 14316720 C T rs368755419 TRIO Synonymous SNV A533A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 295762 chr11 65325334 65325334 - CAGCAG LTBP3 L35_G36insLL 0.002 0 0 0 2 0 0 0 0 0 0 0 295763 chr16 30369796 30369796 G C TBC1D10B Synonymous SNV P632P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.964 295764 chr16 30715396 30715396 C T rs765737673 SRCAP Synonymous SNV D22D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.75 295765 chr2 160112883 160112883 C G rs201147705 WDSUB1 Nonsynonymous SNV R196T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 295766 chr11 94326798 94326798 T C rs148862743 PIWIL4 Nonsynonymous SNV F381L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 295767 chr5 150885470 150885470 G A rs570779199 FAT2 Nonsynonymous SNV R4236W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 295768 chr2 37215984 37215984 G A HEATR5B Stop gain Q1906X 0 0.003 0 0 0 1 0 0 0 0 0 0 49 295769 chr2 37232777 37232777 G C HEATR5B Nonsynonymous SNV Q1635E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 295770 chr11 94039849 94039849 G C rs371959277 IZUMO1R Synonymous SNV L103L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.5 295771 chr11 8969962 8969962 C T rs764636398 TMEM9B Nonsynonymous SNV V94M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 295772 chr12 104144415 104144415 C T rs143368827 STAB2 Nonsynonymous SNV P2166L 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 295773 chr11 70332405 70332405 C T SHANK2 Synonymous SNV E743E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.334 295774 chr11 7079650 7079650 C A rs748848609 NLRP14 Nonsynonymous SNV Q868K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 295775 chr2 54856116 54856116 C T SPTBN1 Synonymous SNV H602H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 295776 chr12 53777401 53777401 C T SP1 Nonsynonymous SNV A509V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 295777 chr2 55523652 55523652 T G rs752220368 CCDC88A Synonymous SNV A1583A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.435 295778 chr12 113629236 113629236 T C rs764106044 RITA1 Nonsynonymous SNV W166R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 295779 chr2 55920901 55920901 G T PNPT1 Nonsynonymous SNV P20T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 295780 chr12 113629260 113629260 G T RITA1 Nonsynonymous SNV G174C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 295781 chr12 108012048 108012048 T C rs780629395 BTBD11 Nonsynonymous SNV L319S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 295782 chr5 180056403 180056403 C T rs149373386 FLT4 Nonsynonymous SNV E281K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 295783 chr16 58572705 58572705 C T rs141722267 CNOT1 Synonymous SNV G1697G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 295784 chr12 109527952 109527952 G A rs199728859 ALKBH2 Nonsynonymous SNV T114M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 295785 chr11 76834846 76834846 G A rs782506945 CAPN5 Nonsynonymous SNV R618Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.71 295786 chr12 121858101 121858101 G T rs782167758 RNF34 Nonsynonymous SNV E38D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 295787 chr12 121858104 121858104 T C RNF34 Synonymous SNV D39D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.025 295788 chr2 71295819 71295819 C T rs965540693 NAGK Synonymous SNV A2A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 295789 chr5 33881584 33881585 CT - rs769170766 ADAMTS12 E43Afs*62 0 0 0.003 0 0 0 0 1 0 0 0 0 295790 chr16 67920065 67920065 C G NRN1L Nonsynonymous SNV T134R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 295791 chr11 76093211 76093211 C T GVQW3 Synonymous SNV N113N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 295792 chr12 124382430 124382430 A G rs201639583 DNAH10 Nonsynonymous SNV S3014G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.86 295793 chr5 38904528 38904528 G A rs767352097 OSMR Nonsynonymous SNV R403Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.177 295794 chr12 124402135 124402135 G A rs373446129 DNAH10 Synonymous SNV T3551T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.63 295795 chr12 121013729 121013729 C G rs771974880 RNF10 Nonsynonymous SNV P784A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.7 295796 chr2 75276834 75276834 T G rs778544609 TACR1 Nonsynonymous SNV K317Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.5 295797 chr16 703451 703451 G A rs756521676 WDR90 Synonymous SNV K411K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 295798 chr5 40747005 40747005 T C TTC33 Nonsynonymous SNV N39S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.663 295799 chr12 120510472 120510472 G A rs199508010 BICDL1 Nonsynonymous SNV R416H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 295800 chr5 42719299 42719299 G A rs898074355 GHR Nonsynonymous SNV D542N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 295801 chr12 129178472 129178472 C G rs559356284 TMEM132C Synonymous SNV P516P 0.003 0 0 0 3 0 0 0 0 0 0 0 9.79 295802 chr5 52233321 52233321 C G rs767015846 ITGA1 Nonsynonymous SNV P1019A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.86 295803 chr16 74501714 74501714 G A rs750172789 GLG1 Synonymous SNV Y812Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.353 295804 chr2 97492596 97492596 G C CNNM3 Nonsynonymous SNV A418P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.253 295805 chr12 70946590 70946590 C T PTPRB Nonsynonymous SNV C1477Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 295806 chr12 122481904 122481904 C T rs76573037 BCL7A Synonymous SNV T128T 0.001 0 0 0 1 0 0 0 0 0 0 0 12 295807 chr12 122618077 122618077 G C rs374527589 MLXIP Synonymous SNV P425P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 295808 chr12 124820147 124820147 C G NCOR2 Synonymous SNV G2039G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.92 295809 chr5 64140750 64140750 G T rs573527906 CWC27 Nonsynonymous SNV R313S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.196 295810 chr2 103335211 103335211 G A rs372604714 MFSD9 Synonymous SNV L304L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.701 295811 chr12 101714636 101714636 C T UTP20 Synonymous SNV L946L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 295812 chr12 88383119 88383119 T G rs200994715 C12orf50 Nonsynonymous SNV I208L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 295813 chr5 75757442 75757442 A G IQGAP2 Nonsynonymous SNV R32G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 295814 chr12 133778990 133778990 G T rs199615744 ZNF268 Stop gain E240X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 295815 chr16 8719606 8719606 C G rs753740823 METTL22 Synonymous SNV T28T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.41 295816 chr16 88783218 88783218 - G PIEZO1 Frameshift insertion Q2250Pfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 295817 chr5 886710 886710 A G rs200294236 BRD9 Nonsynonymous SNV I224T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.788 295818 chr12 98909876 98909876 C T rs139576816 TMPO Synonymous SNV L77L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.72 295819 chr16 9857369 9857369 G T GRIN2A Nonsynonymous SNV F1344L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 295820 chr2 152397989 152397989 G A rs202209668 NEB Nonsynonymous SNV A5184V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.5 295821 chr17 10353821 10353821 G C rs34987433 MYH4 Nonsynonymous SNV T1377S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 295822 chr17 10408821 10408821 C T rs780052499 MYH1 Nonsynonymous SNV V728M 0 0 0.003 0 0 0 0 1 0 0 0 0 26 295823 chr2 152496911 152496911 G A rs150135749 NEB Synonymous SNV S2881S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 9.369 295824 chr12 2968627 2968627 G A rs138809142 FOXM1 Nonsynonymous SNV P475L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 295825 chr17 1198904 1198904 C T rs775304950 TRARG1 Synonymous SNV T169T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 295826 chr17 1340187 1340187 C T rs751909610 CRK Synonymous SNV Q168Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.847 295827 chr6 109867236 109867236 A G AK9 Nonsynonymous SNV I1020T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 295828 chr12 50188606 50188606 C T rs776603436 NCKAP5L Nonsynonymous SNV G1013S 0.003 0 0 0 3 0 0 0 0 0 0 0 19.23 295829 chr12 50190921 50190921 G A rs767225059 NCKAP5L Nonsynonymous SNV A241V 0.003 0 0 0 3 0 0 0 0 0 0 0 17.88 295830 chr6 117642457 117642457 G A rs55687640 ROS1 Synonymous SNV A1914A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 295831 chr12 120586122 120586122 C T rs369587641 GCN1 Synonymous SNV A1525A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.52 295832 chr17 18140896 18140896 C T rs562765850 LLGL1 Synonymous SNV H571H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 295833 chr2 168108446 168108446 C A XIRP2 Nonsynonymous SNV A3293E 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 295834 chr17 19720227 19720227 G A rs145146169 ULK2 Nonsynonymous SNV P311S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.73 295835 chr6 13615652 13615652 - GGGCCAGCT rs1038019419 NOL7 L24_A25insGQL 0 0 0.003 0 0 0 0 1 0 0 0 0 295836 chr17 26950973 26950973 A G KIAA0100 Synonymous SNV R1445R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.556 295837 chr6 143800226 143800226 A G PEX3 Nonsynonymous SNV T278A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 295838 chr6 146126735 146126735 T C rs201482037 FBXO30 Synonymous SNV L269L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 295839 chr17 27448719 27448719 C T rs753087778 MYO18A Nonsynonymous SNV R406H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 295840 chr12 56716486 56716486 A G rs141633655 PAN2 Synonymous SNV A854A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.279 295841 chr13 51517475 51517475 A G rs146451037 RNASEH2B Nonsynonymous SNV N152S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.808 295842 chr13 53049198 53049198 G C rs34624748 CKAP2 Nonsynonymous SNV L658F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.9 295843 chr6 152841678 152841678 - T rs774388631 SYNE1 0 0 0.003 0 0 0 0 1 0 0 0 0 295844 chr12 59268000 59268000 G T rs200846498 LRIG3 Nonsynonymous SNV S924R 0.003 0 0 0 3 0 0 0 0 0 0 0 5.345 295845 chr12 25398229 25398229 G A rs113623140 KRAS Synonymous SNV D30D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.625 295846 chr13 96375600 96375600 T C rs761290518 DNAJC3 Synonymous SNV L100L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.852 295847 chr6 158994485 158994485 G A rs149757220 TMEM181 Synonymous SNV K151K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 295848 chr17 35872912 35872912 A G rs377598867 DUSP14 Nonsynonymous SNV I180V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.786 295849 chr6 158994507 158994507 G A rs146748290 TMEM181 Nonsynonymous SNV V159I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 295850 chr6 159128302 159128302 T C rs181294151 SYTL3 Synonymous SNV Y145Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.12 295851 chr6 159146633 159146633 G A rs371186233 SYTL3 Synonymous SNV P67P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.84 295852 chr6 159294572 159294572 C T rs935339241 C6orf99 0 0 0.003 0 0 0 0 1 0 0 0 0 9.615 295853 chr17 36880997 36880997 C T rs142394710 MLLT6 Nonsynonymous SNV P1003L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 295854 chr12 56076019 56076019 C T rs139209159 METTL7B Nonsynonymous SNV R161W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.03 295855 chr2 205986605 205986605 C T rs765443472 PARD3B Nonsynonymous SNV S366L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 295856 chr12 7177602 7177602 C T C1S Stop gain R405X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 295857 chr6 17115236 17115236 G A rs561083418 STMND1 Nonsynonymous SNV R42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.174 295858 chr6 18197463 18197463 A G rs777251737 KDM1B Nonsynonymous SNV N250S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 295859 chr12 70346638 70346638 C T rs111545047 MYRFL Stop gain Q783X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 40 295860 chr3 47043581 47043601 GCAGCAGCTGCAGCAGCTGCA - NBEAL2 A1618_A1624del 0 0 0 1 0 0 0.003 0 0 0 0 0 295861 chr3 47894375 47894375 G A rs368461617 MAP4 Synonymous SNV H1105H 0 0 0 1 0 0 0.003 0 0 0 0 0 17.75 295862 chr14 23346317 23346317 G A rs146141715 LRP10 Nonsynonymous SNV A575T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.896 295863 chr17 42254050 42254050 T C rs886905122 ASB16-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.757 295864 chr17 42255678 42255678 C T rs75035743 ASB16 Nonsynonymous SNV R428W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 295865 chr17 42756304 42756304 T C CCDC43 Nonsynonymous SNV R199G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 295866 chr12 8201370 8201370 A G rs756119310 FOXJ2 Nonsynonymous SNV S435G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 295867 chr17 42980123 42980123 G T rs778676244 CCDC103 Nonsynonymous SNV G223C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 295868 chr6 41738615 41738615 C T rs137862726 FRS3 Synonymous SNV P407P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.19 295869 chr3 50231268 50231268 A T GNAT1 Nonsynonymous SNV T178S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 295870 chr3 51752060 51752060 G C GRM2 Nonsynonymous SNV G473R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 295871 chr3 52412624 52412624 C A rs749728449 DNAH1 Nonsynonymous SNV A2402D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 295872 chr6 43181298 43181298 A G rs59298334 CUL9 Synonymous SNV P1827P 0 0 0.007 0 0 0 0 2 0 0 0 0 4.169 295873 chr12 96921104 96921104 G A CFAP54 Synonymous SNV L413L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.59 295874 chr17 48776855 48776855 G A ANKRD40 Nonsynonymous SNV P228L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 295875 chr13 21245156 21245156 A G rs765668289 IFT88 Nonsynonymous SNV K763E 0.003 0 0 0 3 0 0 0 0 0 0 0 4.788 295876 chr13 23928873 23928873 C A rs374010041 SACS Synonymous SNV V479V 0.003 0 0 0 3 0 0 0 0 0 0 0 6.478 295877 chr14 51464892 51464892 C T rs144100336 TRIM9 Synonymous SNV G493G 0.002 0 0.007 0 2 0 0 2 0 0 0 0 17.11 295878 chr17 59489443 59489443 C G rs144010287 C17orf82 0 0 0.003 0 0 0 0 1 0 0 0 0 1.843 295879 chr13 21205196 21205196 A G IFT88 Synonymous SNV R399R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.115 295880 chr2 242793269 242793269 C T PDCD1 Nonsynonymous SNV G270S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.047 295881 chr13 114058261 114058261 - GATCCCGAGCCC LOC101928841 D1414_Q1415insRARD 0.001 0 0 0 1 0 0 0 0 0 0 0 295882 chr6 76024077 76024077 C T rs376668841 FILIP1 Nonsynonymous SNV E491K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 295883 chr14 102793142 102793142 T A ZNF839 Nonsynonymous SNV L254Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 295884 chr6 80751916 80751916 A G rs746342595 TTK Synonymous SNV K856K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.511 295885 chr6 83839931 83839931 A G rs538739480 DOP1A Nonsynonymous SNV I802V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 295886 chr6 83840081 83840081 C T DOP1A Synonymous SNV L852L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 295887 chr14 103941508 103941508 G A rs549864859 MARK3 Synonymous SNV A402A 0.003 0 0 0 3 0 0 0 0 0 0 0 16.09 295888 chr3 7721879 7721879 G A rs150447178 GRM7 Synonymous SNV A865A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 295889 chr14 104643459 104643459 C T rs199511148 KIF26A Nonsynonymous SNV A1445V 0.003 0 0 0 3 0 0 0 0 0 0 0 17.43 295890 chr6 90458988 90458988 G A rs142428486 MDN1 Nonsynonymous SNV P1239L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 295891 chr3 10491155 10491155 C G ATP2B2 Nonsynonymous SNV G25R 0 0.003 0 0 0 1 0 0 0 0 0 0 31 295892 chr3 12584678 12584678 C T MKRN2OS 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 295893 chr3 20161148 20161148 T C KAT2B Synonymous SNV L403L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.144 295894 chr3 33135606 33135606 G A rs367588918 TMPPE Nonsynonymous SNV R28C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 295895 chr3 33558511 33558511 T C CLASP2 Nonsynonymous SNV I1103V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 295896 chr17 74536599 74536599 C T PRCD Synonymous SNV D29D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 295897 chr17 7466722 7466722 G A SENP3 Nonsynonymous SNV R110Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 295898 chr12 96370227 96370227 T G HAL Synonymous SNV R397R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.286 295899 chr14 104643448 104643448 C T rs562316909 KIF26A Synonymous SNV Y1441Y 0.003 0 0 0 3 0 0 0 0 0 0 0 11.84 295900 chr7 100684548 100684548 C T rs147208392 MUC17 Nonsynonymous SNV T3284I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15 295901 chr7 100806359 100806359 T G rs746617291 VGF Nonsynonymous SNV E589A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 295902 chr14 20344594 20344594 C T rs376531484 OR4K2 Synonymous SNV H56H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.056 295903 chr14 20612113 20612113 C T rs745648480 OR4N5 Synonymous SNV Y73Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.775 295904 chr3 45052792 45052792 C T rs778611728 EXOSC7 Synonymous SNV S279S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.53 295905 chr7 108212254 108212254 T C DNAJB9 Synonymous SNV Y28Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.788 295906 chr7 116838537 116838537 C A rs769545959 ST7-OT3 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 295907 chr13 113975964 113975964 G A LAMP1 Nonsynonymous SNV V346I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.2 295908 chr13 114202656 114202658 GAG - TMCO3 E439del 0.003 0 0 1 4 0 0.003 0 0 0 0 0 295909 chr3 47041747 47041747 C T rs145928108 NBEAL2 Synonymous SNV P1352P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.26 295910 chr7 129094344 129094344 C T rs569854698 STRIP2 Nonsynonymous SNV R228W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 295911 chr7 129841718 129841718 G A rs112117918 TMEM209 Nonsynonymous SNV T182I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 295912 chr3 49335360 49335360 T C rs61754208 USP4 Nonsynonymous SNV K498R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 295913 chr3 49680225 49680225 C T rs71324983 BSN Synonymous SNV I386I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 295914 chr3 49701954 49701954 G A rs768121007 BSN Nonsynonymous SNV G3903R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 295915 chr17 80895209 80895209 T C rs370829071 TBCD Nonsynonymous SNV I1085T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.551 295916 chr15 34134127 34134127 C G RYR3 Nonsynonymous SNV T4362R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.453 295917 chr3 49755637 49755637 - GGGGCCA AMIGO3 Frameshift insertion Q421Lfs*56 0 0.003 0 0 0 1 0 0 0 0 0 0 295918 chr3 49830425 49830425 C T rs34160951 CDHR4 Synonymous SNV Q619Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.029 295919 chr14 21551057 21551057 C T ARHGEF40 Nonsynonymous SNV A471V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.73 295920 chr14 31828213 31828213 C A HEATR5A Nonsynonymous SNV D708Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 295921 chr14 52735199 52735199 C A PTGDR Nonsynonymous SNV R223S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 295922 chr3 77607172 77607172 C T rs773786584 ROBO2 Synonymous SNV L437L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.87 295923 chr18 43437949 43437949 G A rs377487870 EPG5 Synonymous SNV S2437S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.5 295924 chr3 108284259 108284259 A T rs374745706 CIP2A Synonymous SNV I486I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.04 295925 chr18 54694333 54694333 C A rs75688042 WDR7 Synonymous SNV S1423S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.76 295926 chr18 55218027 55218027 T G FECH Nonsynonymous SNV K364Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 295927 chr14 103412044 103412044 C A CDC42BPB Nonsynonymous SNV V1256F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 295928 chr14 51224560 51224560 T C rs763259616 NIN Nonsynonymous SNV N1063S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 24.2 295929 chr7 2646935 2646935 C G rs759903525 IQCE Synonymous SNV L616L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.829 295930 chr7 2696038 2696038 G A rs772407437 TTYH3 Nonsynonymous SNV V374M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 295931 chr3 114069738 114069738 G C rs761522766 ZBTB20 Nonsynonymous SNV P396R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.31 295932 chr14 69521466 69521466 C T rs182427634 DCAF5 Nonsynonymous SNV R645Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 295933 chr4 4461160 4461160 G C STX18 Nonsynonymous SNV D16E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 295934 chr7 31736602 31736602 A G rs373771401 PPP1R17 Nonsynonymous SNV K36E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 295935 chr7 38726228 38726228 G C rs553639146 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.518 295936 chr7 4153009 4153009 G A rs149058628 SDK1 Nonsynonymous SNV V1175M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 295937 chr18 9547929 9547929 C A PPP4R1 Nonsynonymous SNV S904I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 295938 chr3 123650167 123650169 TTG - rs760650357 CCDC14 T392del 0 0.003 0 0 0 1 0 0 0 0 0 0 295939 chr14 75134054 75134054 G A rs1051112457 AREL1 Nonsynonymous SNV L691F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 295940 chr7 72857130 72857130 C T rs150115317 BAZ1B Nonsynonymous SNV R1340K 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 23.6 295941 chr7 73085480 73085480 G A rs782529489 VPS37D Nonsynonymous SNV R177H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 295942 chr19 14031461 14031461 C A rs201884654 CC2D1A Nonsynonymous SNV P483H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 295943 chr19 14269329 14269329 G C rs533123664 ADGRL1 Nonsynonymous SNV L729V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 295944 chr19 1468408 1468408 C A rs200444154 APC2 Nonsynonymous SNV A1702E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.1 295945 chr15 84694155 84694155 T C rs199951564 ADAMTSL3 Synonymous SNV G1541G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 295946 chr4 54325490 54325490 A G rs750619092 FIP1L1 Synonymous SNV E479E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.626 295947 chr7 80292418 80292418 G A rs568503917 CD36 Nonsynonymous SNV G26D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 295948 chr14 91681783 91681783 C T rs146936755 DGLUCY Synonymous SNV C533C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.721 295949 chr3 152058214 152058214 C A rs558787000 TMEM14EP 0 0.005 0 0 0 2 0 0 0 1 0 0 8.81 295950 chr19 15290902 15290902 A G rs761582318 NOTCH3 Nonsynonymous SNV M1103T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 295951 chr7 87370886 87370886 A G RUNDC3B Nonsynonymous SNV Y207C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 295952 chr19 16345075 16345075 G A rs34850342 AP1M1 Synonymous SNV T413T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.781 295953 chr3 174951884 174951884 G A rs750580723 NAALADL2 Nonsynonymous SNV G237S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.16 295954 chr19 17007065 17007065 T A rs771405368 CPAMD8 Nonsynonymous SNV Q1783L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.858 295955 chr15 90610438 90610438 C A rs145448380 ZNF710 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 295956 chr15 40627604 40627604 C T rs201969716 CCDC9B Nonsynonymous SNV E454K 0.003 0 0 0 3 0 0 0 0 0 0 0 16.71 295957 chr3 190027967 190027967 A G rs763674205 CLDN1 Nonsynonymous SNV V155A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.17 295958 chr8 11703272 11703272 T G CTSB Nonsynonymous SNV M150L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.286 295959 chr19 18778603 18778603 C T rs758914925 KLHL26 Synonymous SNV C161C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.358 295960 chr19 19765506 19765506 G A ATP13A1 Synonymous SNV D553D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.467 295961 chr15 43818655 43818655 G A MAP1A Nonsynonymous SNV G1662R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.49 295962 chr19 3198835 3198835 C T rs200222225 NCLN Synonymous SNV G212G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.78 295963 chr14 76186121 76186121 A G rs756717509 TTLL5 Nonsynonymous SNV M296V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.3 295964 chr4 113353729 113353729 G A rs141398762 ALPK1 Nonsynonymous SNV R931Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.863 295965 chr4 113568701 113568701 T C rs377090014 LARP7 Synonymous SNV N331N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.675 295966 chr19 35512708 35512708 G A rs199583350 GRAMD1A Nonsynonymous SNV G558R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 295967 chr16 20384184 20384184 G A rs745761760 PDILT Synonymous SNV S286S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.348 295968 chr19 36333389 36333389 G A rs114896482 NPHS1 Nonsynonymous SNV R800C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.398 295969 chr15 50595180 50595180 A G rs766406063 GABPB1 Synonymous SNV T139T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.413 295970 chr19 36499488 36499488 G A rs138787817 SYNE4 Synonymous SNV T32T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.309 295971 chr8 144999571 144999571 C T rs782666455 PLEC Nonsynonymous SNV R1495H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.2 295972 chr15 65960396 65960396 G A rs144052781 DENND4A Nonsynonymous SNV T1574I 0.003 0 0.003 0 3 0 0 1 0 0 0 0 19.3 295973 chr19 38851433 38851433 G C rs118188687 CATSPERG Nonsynonymous SNV Q570H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.884 295974 chr8 17159741 17159741 T C MTMR7 Synonymous SNV R514R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.575 295975 chr16 31091809 31091809 G T rs759493450 ZNF646 Nonsynonymous SNV E1388D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.468 295976 chr15 33955137 33955137 C T rs527977093 RYR3 Synonymous SNV S1802S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.75 295977 chr19 42265200 42265200 C T rs782038014 CEACAM6 Synonymous SNV P156P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 295978 chr4 183721246 183721246 C T rs772839377 TENM3 Synonymous SNV D2614D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.06 295979 chr15 77907925 77907925 G A rs777483987 LINGO1 Synonymous SNV S108S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.783 295980 chr15 71128818 71128818 T A LARP6 Nonsynonymous SNV N76I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 295981 chr4 57676155 57676155 A T SPINK2 Nonsynonymous SNV V134E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 295982 chr5 884057 884057 C G rs780210150 BRD9 Nonsynonymous SNV G268A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.887 295983 chr15 41988962 41988962 G C rs953969676 MGA Nonsynonymous SNV R585T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 295984 chr15 72968523 72968523 A G rs201831579 HIGD2B Nonsynonymous SNV Y65H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 295985 chr8 33369494 33369494 T C rs138419634 TTI2 Nonsynonymous SNV D213G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.674 295986 chr15 74623422 74623422 C T rs201258365 CCDC33 Nonsynonymous SNV A142V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 295987 chr15 75015162 75015162 G A rs2229150 CYP1A1 Nonsynonymous SNV R93W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 295988 chr8 55055316 55055316 A T MRPL15 Nonsynonymous SNV T175S 0 0 0.007 0 0 0 0 2 0 0 0 0 23.7 295989 chr15 43494043 43494043 T C rs200820078 EPB42 Nonsynonymous SNV R668G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 295990 chr15 43653626 43653626 T A ZSCAN29 Nonsynonymous SNV Q735L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 295991 chr4 76489421 76489421 G A rs748630487 ODAPH Nonsynonymous SNV G70E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.65 295992 chr15 43694040 43694040 T C rs369645795 TUBGCP4 Synonymous SNV L576L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.448 295993 chr5 14712969 14712969 C G LOC100130744 0 0 0 1 0 0 0.003 0 0 0 0 0 0.851 295994 chr8 59409231 59409231 G A rs545609682 CYP7A1 Synonymous SNV L280L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.931 295995 chr5 32088286 32088286 T C PDZD2 Nonsynonymous SNV S1578P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 295996 chr16 66976010 66976010 G A CES2 Nonsynonymous SNV M380I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.599 295997 chr16 67315670 67315670 C T rs148286913 PLEKHG4 Nonsynonymous SNV T231M 0.002 0 0 0 2 0 0 0 0 0 0 0 2.799 295998 chr8 65527699 65527699 G A rs775227835 CYP7B1 Nonsynonymous SNV A314V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 295999 chr15 81592452 81592452 C T rs765089732 IL16 Nonsynonymous SNV P228S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 296000 chr16 69776440 69776440 C T rs202231111 NOB1 Nonsynonymous SNV R345H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 296001 chr8 71619235 71619235 G A XKR9 Nonsynonymous SNV V114M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.747 296002 chr19 48699058 48699058 G A ZSWIM9 Synonymous SNV G579G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.074 296003 chr19 48800303 48800303 T C rs777938952 CCDC114 Nonsynonymous SNV H648R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 296004 chr19 49001775 49001776 GC - LMTK3 K879Nfs*689 0 0 0.003 0 0 0 0 1 0 0 0 0 296005 chr19 49001779 49001782 CTCC - LMTK3 E878Sfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 296006 chr19 49001785 49001785 G T rs988645404 LMTK3 Synonymous SNV P876P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 296007 chr8 99153059 99153059 C T rs149102421 POP1 Stop gain R513X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 296008 chr4 100571395 100571395 G C rs752450077 C4orf54 Nonsynonymous SNV L1471V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 296009 chr9 116085355 116085355 G A rs760464535 WDR31 Synonymous SNV S10S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.958 296010 chr15 72039251 72039251 G A rs201879533 THSD4 Nonsynonymous SNV R344H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 296011 chr15 74032916 74032916 G A rs148395446 INSYN1 Nonsynonymous SNV T75M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 296012 chr9 119460542 119460542 C T rs138699534 TRIM32 Nonsynonymous SNV S174F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 296013 chr4 140258090 140258090 C T NAA15 Synonymous SNV D76D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.044 296014 chr16 1557617 1557617 G T rs773209028 TELO2 Synonymous SNV G769G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.643 296015 chr16 30199808 30199808 C A CORO1A Nonsynonymous SNV P398T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 296016 chr4 144336665 144336665 C T rs756913739 GAB1 Synonymous SNV G36G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 296017 chr16 30621338 30621338 G A rs752291322 ZNF689 Nonsynonymous SNV P9S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 296018 chr16 31426241 31426241 G C ITGAD Nonsynonymous SNV E739Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 296019 chr19 54684691 54684691 C G rs185682596 MBOAT7 Nonsynonymous SNV R145P 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 296020 chr9 131398631 131398631 G A rs755169068 WDR34 Nonsynonymous SNV S211L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 296021 chr16 89845371 89845371 C T rs201212806 FANCA Nonsynonymous SNV A586T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.6 296022 chr9 13223709 13223709 C T rs201101621 MPDZ Nonsynonymous SNV G132S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 296023 chr16 2122956 2122956 A G rs766382381 TSC2 Nonsynonymous SNV Y576C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 296024 chr15 89444963 89444963 C T rs143176923 MFGE8 Nonsynonymous SNV C186Y 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.2 296025 chr16 23101952 23101952 C T USP31 Nonsynonymous SNV G470R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 296026 chr4 174235206 174235206 C T rs774669298 GALNT7 Nonsynonymous SNV S496L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 296027 chr9 135202224 135202226 AGG - SETX P1587del 0 0 0.003 0 0 0 0 1 0 0 0 0 296028 chr16 49430498 49430498 G A rs757559961 C16orf78 Nonsynonymous SNV E187K 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 296029 chr4 183714995 183714995 C T TENM3 Synonymous SNV N2390N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.515 296030 chr17 15406181 15406181 A T rs537837958 TVP23C Nonsynonymous SNV H276Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 296031 chr4 183721107 183721107 G A rs200859700 TENM3 Nonsynonymous SNV R2568H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 25.6 296032 chr16 2522186 2522186 C T rs767001947 NTN3 Nonsynonymous SNV P162S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.744 296033 chr17 16005004 16005004 C T rs200458310 NCOR1 Synonymous SNV A657A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 296034 chr5 130771676 130771676 G A rs183985113 RAPGEF6 Stop gain R1382X 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 296035 chr9 138516208 138516208 G C rs190884433 GLT6D1 Nonsynonymous SNV P189R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.018 296036 chr9 138517988 138517988 C T rs371280419 GLT6D1 Nonsynonymous SNV D62N 0 0 0.007 0 0 0 0 2 0 0 0 0 0.262 296037 chr16 2810375 2810375 C T rs777386719 SRRM2 Nonsynonymous SNV R303C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 296038 chr5 131630468 131630468 G T rs375954722 SLC22A4 Synonymous SNV P53P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.345 296039 chr15 91490039 91490039 C G UNC45A Synonymous SNV A320A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.55 296040 chr9 138903393 138903393 C A NACC2 Nonsynonymous SNV R578M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 296041 chr15 91500002 91500002 G T rs547362625 RCCD1 Nonsynonymous SNV G13V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.9 296042 chr9 139244137 139244137 G A rs547553624 GPSM1 Synonymous SNV P459P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.549 296043 chr16 56913118 56913118 C T rs776210036 SLC12A3 Synonymous SNV Y438Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 8.862 296044 chr16 11063109 11063109 C T rs201267158 CLEC16A Synonymous SNV F145F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.45 296045 chr9 139621312 139621316 GCAAC - SNHG7, SNORA17A 0 0 0.003 0 0 0 0 1 0 0 0 0 296046 chr9 139701632 139701632 G A rs771886098 CCDC183-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.565 296047 chr9 139748026 139748026 G A rs764894543 MAMDC4 Nonsynonymous SNV G120R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 296048 chr4 189060900 189060900 C T rs753100096 TRIML1 Nonsynonymous SNV P63L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 296049 chr16 50362584 50362584 T C rs1002358438 BRD7 Synonymous SNV V361V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.13 296050 chr19 58514374 58514374 C T rs200752995 LOC100128398 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 296051 chr16 68847298 68847298 C T rs1060501236 CDH1 Nonsynonymous SNV P407L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 17.63 296052 chr16 69726948 69726948 C G NFAT5 Nonsynonymous SNV Q849E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.1 296053 chr9 14770717 14770717 T C rs199891537 FREM1 Nonsynonymous SNV I185V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 23.3 296054 chr16 16253404 16253404 T C rs920811008 ABCC6 Nonsynonymous SNV T1224A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.82 296055 chr5 10564626 10564626 G T ANKRD33B Nonsynonymous SNV C16F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 296056 chr16 19539210 19539210 G A rs780183583 CCP110 Nonsynonymous SNV E3K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 296057 chr5 145503616 145503616 C A rs559313290 LARS1 Nonsynonymous SNV D963Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.7 296058 chr16 72829222 72829222 C G ZFHX3 Nonsynonymous SNV E1539D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.17 296059 chr9 35100136 35100136 G T rs368708176 STOML2 Nonsynonymous SNV P278T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.467 296060 chr16 5125530 5125530 G C ALG1 Nonsynonymous SNV A67P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 296061 chr5 40937704 40937704 G C C7 Nonsynonymous SNV S160T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 296062 chr17 17697096 17697096 - CAG RAI1 Q291_A292insQ 0.003 0 0 0 3 0 0 0 0 0 0 0 296063 chr17 34964140 34964140 C G rs202007668 MRM1 Nonsynonymous SNV T224R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 296064 chr16 84046615 84046615 G A rs201194139 SLC38A8 Nonsynonymous SNV P402L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.811 296065 chr19 9066045 9066045 G A rs182429535 MUC16 Nonsynonymous SNV P7134L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 296066 chr5 72864078 72864078 G A rs190252235 UTP15 Nonsynonymous SNV E37K 0 0.003 0 0 0 1 0 0 0 0 0 0 33 296067 chr19 9090105 9090105 G A rs755080787 MUC16 Synonymous SNV T570T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.89 296068 chr5 74444448 74444448 T G rs373874636 ANKRD31 Synonymous SNV R620R 0 0.005 0 0 0 2 0 0 0 1 0 0 0.141 296069 chrM 1422 1422 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 296070 chrM 2762 2762 A G RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 296071 chr1 10002766 10002766 T C LZIC Nonsynonymous SNV M10V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.468 296072 chrX 111698035 111698035 C T RTL4 Nonsynonymous SNV L27F 0 0 0.007 0 0 0 0 2 0 0 1 0 8.202 296073 chr16 75203206 75203206 G A rs201191423 ZFP1 Nonsynonymous SNV R72K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 296074 chr1 109649656 109649656 T G rs74113753 C1orf194 Nonsynonymous SNV N57T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.73 296075 chr16 77228980 77228980 G A rs145226349 MON1B Synonymous SNV P262P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.137 296076 chrX 132351849 132351849 G A rs61732904 TFDP3 Nonsynonymous SNV H147Y 0 0 0.007 0 0 0 0 2 0 0 1 0 13.59 296077 chr1 110283134 110283134 C G rs36210756 GSTM3 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 296078 chr5 177547220 177547220 C T rs141350681 N4BP3 Synonymous SNV N124N 0 0 0 1 0 0 0.003 0 0 0 0 0 4.986 296079 chrX 145082615 145082615 G C rs143246735 MIR891B 0 0 0.007 0 0 0 0 2 0 0 1 0 0.315 296080 chrX 149945946 149945946 C T rs143706982 CD99L2 Nonsynonymous SNV R96Q 0 0 0.007 0 0 0 0 2 0 0 1 0 9.887 296081 chrX 18926923 18926923 T C PHKA2 Nonsynonymous SNV I786V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.754 296082 chr5 96503570 96503570 T A rs760984391 RIOK2 Nonsynonymous SNV E333V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 296083 chr6 2954877 2954877 C T rs146252067 SERPINB6 Nonsynonymous SNV V141I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.274 296084 chr1 12252927 12252927 G A rs2228494 TNFRSF1B Nonsynonymous SNV V187M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.191 296085 chr16 57918082 57918082 C - CNGB1 E1242Rfs*8 0.002 0 0 0 2 0 0 0 0 0 0 0 296086 chr1 12836169 12836169 G A rs199634525 PRAMEF12 Synonymous SNV Q257Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.159 296087 chrX 73045476 73045476 C T TSIX, XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 10.31 296088 chrX 73061765 73061765 T C XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 0.992 296089 chr5 128440749 128440749 T C rs372546197 ISOC1 Nonsynonymous SNV I137T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 296090 chr5 131606733 131606733 C T rs182865841 PDLIM4 Synonymous SNV S151S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.1 296091 chr10 104140333 104140333 C G GBF1 Nonsynonymous SNV A1684G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 296092 chr5 132159786 132159786 C T rs772132252 SHROOM1 Nonsynonymous SNV A523T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.98 296093 chr10 105185263 105185263 C T rs753476534 PDCD11 Stop gain R1096X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 296094 chr16 727971 727971 C T rs112983550 RHBDL1 Synonymous SNV Y272Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 296095 chr10 115336942 115336942 G T rs147689085 HABP2 Nonsynonymous SNV R96L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 296096 chr10 115372140 115372140 C T rs138765629 NRAP Synonymous SNV P1081P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.86 296097 chr1 156517904 156517904 G A rs139482694 IQGAP3 Synonymous SNV H755H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.772 296098 chr10 116602780 116602780 C T rs780790031 FAM160B1 Nonsynonymous SNV T204I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 296099 chr10 116615013 116615013 T C rs201141554 FAM160B1 Synonymous SNV L621L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.811 296100 chr5 140257100 140257100 G A rs371100299 PCDHA12 Synonymous SNV R681R 0 0.005 0 0 0 2 0 0 0 0 0 0 5.055 296101 chr5 140346795 140346795 C T rs146322183 PCDHAC2 Synonymous SNV F148F 0 0.005 0 0 0 2 0 0 0 0 0 0 17.12 296102 chr17 17030020 17030020 C T rs944814693 MPRIP Nonsynonymous SNV T123M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 296103 chr17 28645919 28645919 C - rs752519301 TMIGD1 G218Vfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 296104 chr5 140788940 140788940 C T rs868377090 PCDHGB6 Nonsynonymous SNV P391S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 296105 chr6 41566596 41566596 C T rs144782444 FOXP4 Synonymous SNV G655G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.07 296106 chr17 61512578 61512578 C G rs781696541 CYB561 Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 296107 chr17 18769199 18769199 G T rs375894535 PRPSAP2 Nonsynonymous SNV G18V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.9 296108 chr17 62488847 62488847 A C rs782791859 POLG2 Synonymous SNV P244P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 296109 chr5 147469075 147469075 C T rs192473184 SPINK5 Nonsynonymous SNV R165W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 296110 chr17 34325326 34325326 G T rs148926598 CCL15 Nonsynonymous SNV P80T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 296111 chr17 33902992 33902992 A C rs774415243 PEX12 Nonsynonymous SNV L297V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.35 296112 chr17 72200304 72200304 C T rs149248512 RPL38 Synonymous SNV L13L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.78 296113 chr16 8987927 8987927 G A rs137886097 USP7 Synonymous SNV L1063L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 296114 chr10 22726667 22726669 CTC - LOC100499489 0 0 0.003 0 0 0 0 1 0 0 0 0 296115 chr17 10216528 10216528 C T rs377027999 MYH13 Synonymous SNV R1376R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.6 296116 chr10 25144263 25144263 G A rs149945511 PRTFDC1 Synonymous SNV D179D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.306 296117 chr17 72368402 72368402 G A rs146354716 GPR142 Nonsynonymous SNV R263Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 296118 chr17 29631576 29631576 T A EVI2B Nonsynonymous SNV E351V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 296119 chr1 17607273 17607273 G A rs142026875 PADI3 Synonymous SNV T581T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 296120 chr1 179271924 179271924 G A rs150412161 SOAT1 Synonymous SNV E35E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.71 296121 chr17 73258683 73258683 A G rs767514979 MRPS7 Synonymous SNV K63K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.336 296122 chr17 34325342 34325342 G A CCL15 Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.57 296123 chr17 73888095 73888095 C T TRIM65 Nonsynonymous SNV V306M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 296124 chr1 1849479 1849479 C T rs141967299 TMEM52 Nonsynonymous SNV D158N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 296125 chr5 179674439 179674439 G A rs147368192 MAPK9 Nonsynonymous SNV R230C 0 0.005 0 0 0 2 0 0 0 1 0 0 22.7 296126 chr5 179956342 179956342 A G rs151053718 CNOT6 Synonymous SNV E22E 0 0.005 0 0 0 2 0 0 0 1 0 0 5.834 296127 chr17 40652924 40652924 A G rs147746945 ATP6V0A1 Nonsynonymous SNV M634V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.32 296128 chr6 395890 395890 C T rs776019676 IRF4 Synonymous SNV S149S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.28 296129 chr10 53458577 53458577 T G CSTF2T Synonymous SNV R245R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.257 296130 chr1 201023683 201023683 G A rs148105111 CACNA1S Synonymous SNV L1206L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.37 296131 chr6 13316938 13316938 C A rs754872668 TBC1D7, TBC1D7-LOC100130357 Nonsynonymous SNV E101D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.25 296132 chr17 46865191 46865191 G A TTLL6 Nonsynonymous SNV A217V 0.002 0 0 0 2 0 0 0 0 0 0 0 32 296133 chr1 204129701 204129701 T C rs367805555 REN Nonsynonymous SNV Q160R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.76 296134 chr10 70863653 70863653 G T rs186846312 SRGN Nonsynonymous SNV R29L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 296135 chr17 27244367 27244367 C T rs776544473 PHF12 Nonsynonymous SNV R357Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 296136 chr6 136502411 136502411 A G rs75832263 PDE7B Nonsynonymous SNV E332G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 296137 chr10 75104916 75104916 C T rs150217808 CFAP70 Synonymous SNV T172T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 296138 chr17 31618758 31618758 G T rs765959705 ASIC2 Nonsynonymous SNV R126S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.68 296139 chr10 79581564 79581564 C T rs758528456 DLG5 Nonsynonymous SNV S893N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 296140 chr10 85981682 85981682 G A rs373496273 LRIT2 Synonymous SNV N549N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.224 296141 chr6 151917669 151917669 A T CCDC170 Nonsynonymous SNV H556L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.85 296142 chr6 152603086 152603086 T A SYNE1 Nonsynonymous SNV Q6008H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 296143 chr11 1016777 1016777 G A rs748862532 MUC6 Synonymous SNV H2008H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.418 296144 chr11 1016793 1016793 G A MUC6 Nonsynonymous SNV T2003I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.86 296145 chr11 1016809 1016809 G T rs756062369 MUC6 Nonsynonymous SNV P1998T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.23 296146 chr1 227071430 227071430 G A rs188598190 PSEN2 Nonsynonymous SNV G56S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.64 296147 chr1 227216611 227216611 T C CDC42BPA Synonymous SNV Q1330Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.307 296148 chr6 43021482 43021482 G C CUL7 Nonsynonymous SNV R39G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.036 296149 chr11 1016919 1016919 C T rs536595477 MUC6 Nonsynonymous SNV R1961K 0 0 0.007 0 0 0 0 2 0 0 0 0 4.638 296150 chr17 6683209 6683209 A T rs61753143 FBXO39 Nonsynonymous SNV I8F 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.076 296151 chr1 232577535 232577535 T C SIPA1L2 Nonsynonymous SNV M1173V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 296152 chr17 71239136 71239136 C T rs145623986 C17orf80 Nonsynonymous SNV R539C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 296153 chr1 233463993 233463993 C T MAP3K21 Synonymous SNV A73A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 296154 chr7 1009061 1009061 G T rs199675478 COX19 Nonsynonymous SNV L76M 0 0 0 1 0 0 0.003 0 0 0 0 0 25 296155 chr6 52268699 52268699 C T PAQR8 Nonsynonymous SNV H230Y 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 296156 chr6 52697737 52697737 - TGG GSTA5 W155_A156insP 0 0.003 0 0 0 1 0 0 0 0 0 0 296157 chr6 52697738 52697738 - AA GSTA5 Frameshift insertion W155Cfs*28 0 0.003 0 0 0 1 0 0 0 0 0 0 296158 chr11 107263555 107263555 T C CWF19L2 Nonsynonymous SNV T562A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.446 296159 chr11 10800360 10800360 G C CTR9 Nonsynonymous SNV R1053P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 296160 chr17 4352592 4352592 G C rs201912448 SPNS3 Nonsynonymous SNV G151A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.761 296161 chr11 113694417 113694417 A G USP28 Nonsynonymous SNV M65T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 296162 chr17 73646760 73646760 G C rs774232804 RECQL5 Nonsynonymous SNV A423G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.087 296163 chr17 72874583 72874583 G A rs749160155 FADS6 Synonymous SNV F310F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.648 296164 chr11 116656258 116656258 C T rs181857790 ZPR1 Nonsynonymous SNV R172Q 0 0 0.007 0 0 0 0 2 0 0 0 0 0.019 296165 chr1 24426216 24426216 A C rs1016375787 MYOM3 Nonsynonymous SNV Y204D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 296166 chr17 72942840 72942840 G A rs773155412 OTOP3 Nonsynonymous SNV S279N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.846 296167 chr17 72943261 72943261 T C rs772701429 OTOP3 Synonymous SNV I419I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.254 296168 chr17 4619793 4619793 G A rs776875048 ARRB2 Nonsynonymous SNV A68T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 296169 chr6 90661154 90661154 G C BACH2 Nonsynonymous SNV A224G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.46 296170 chr17 78078606 78078606 G A rs764797280 GAA Nonsynonymous SNV R74H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.774 296171 chr17 78196585 78196585 C T rs146924772 SLC26A11 Synonymous SNV Y122Y 0.003 0 0 0 3 0 0 0 0 0 0 0 12.5 296172 chr11 124794754 124794754 G A HEPACAM Synonymous SNV I99I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.411 296173 chr17 56621015 56621015 G A rs753901004 SEPTIN4 Nonsynonymous SNV P178L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 296174 chr1 26369096 26369096 C T rs746355195 SLC30A2 Nonsynonymous SNV G177S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296175 chr11 125831571 125831571 C T rs374493187 CDON Nonsynonymous SNV A1227T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.828 296176 chr6 135239771 135239771 T G rs374409638 ALDH8A1 Nonsynonymous SNV K366Q 0 0.003 0 0 0 1 0 0 0 0 0 0 4.656 296177 chr17 73753182 73753182 G A rs200441318 ITGB4 Nonsynonymous SNV D1721N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 296178 chr17 73888165 73888165 C - rs754072178 TRIM65 L283Cfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 296179 chr17 67146140 67146140 A G ABCA10 Nonsynonymous SNV F1488L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.098 296180 chr1 3662208 3662208 G T rs79457354 TP73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.716 296181 chr17 80373431 80373431 C G OGFOD3 Synonymous SNV L49L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.726 296182 chr19 11624789 11624789 C A rs141406930 ECSIT Nonsynonymous SNV R115L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 296183 chr17 80963040 80963040 C T rs142855993 B3GNTL1 Nonsynonymous SNV R152Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 296184 chr11 20065775 20065775 G A rs747162105 NAV2 Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 296185 chr7 76022983 76022983 C T SSC4D Nonsynonymous SNV E358K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 296186 chr17 74936874 74936874 G A rs143449404 MGAT5B Nonsynonymous SNV D607N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 296187 chr11 28104755 28104756 TA - KIF18A I370Nfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 296188 chr11 3125601 3125601 C T rs146107856 OSBPL5 Nonsynonymous SNV E288K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 296189 chr11 3243256 3243256 T C rs556634158 MRGPRG-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.527 296190 chr11 34904364 34904364 C T APIP 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 296191 chr11 403142 403142 G A PKP3 Stop gain W601X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 296192 chr1 53793492 53793492 C T rs757705637 LRP8 Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 296193 chr1 55096504 55096504 - T rs774448991 ACOT11 Frameshift insertion W577Lfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 296194 chr6 170176444 170176444 C T rs185028676 ERMARD Nonsynonymous SNV T512M 0 0.003 0 0 0 1 0 0 0 0 0 0 3.734 296195 chr1 60520990 60520990 G A rs542760785 C1orf87 Synonymous SNV T76T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.611 296196 chr7 2740125 2740125 C T rs201255912 AMZ1 Nonsynonymous SNV P14S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 296197 chr1 65243437 65243437 C T rs943609977 RAVER2 Nonsynonymous SNV P150S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 296198 chr1 6692883 6692883 G A rs773285992 THAP3 Nonsynonymous SNV E155K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 296199 chr17 7700780 7700780 A G rs377455589 DNAH2 Nonsynonymous SNV D2671G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.93 296200 chr17 7710900 7710900 G A rs771675003 DNAH2 Nonsynonymous SNV R3242Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 296201 chr1 75065524 75065524 C T rs74093443 ERICH3 Synonymous SNV P527P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.115 296202 chr1 75608854 75608854 C T rs12084309 LHX8 Synonymous SNV D137D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.57 296203 chr1 75669430 75669430 T C rs187209060 SLC44A5 Synonymous SNV P712P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 296204 chr1 75716928 75716928 G A rs114123196 SLC44A5 Synonymous SNV S98S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 296205 chr7 16816717 16816717 C T rs201308839 TSPAN13 Synonymous SNV C94C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 296206 chr1 85487834 85487834 G A rs748107187 MCOLN3 Synonymous SNV I357I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 296207 chr1 86904659 86904659 G A rs773533237 CLCA2 Nonsynonymous SNV G358E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 296208 chr7 21655861 21655861 G C rs752074919 DNAH11 Nonsynonymous SNV R1349T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 296209 chr18 74580766 74580766 G A ZNF236 Synonymous SNV E163E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.365 296210 chr11 5444172 5444172 C A rs143597541 OR51Q1 Nonsynonymous SNV L248I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 296211 chr1 91405097 91405097 G C rs752763891 ZNF644 Nonsynonymous SNV T605R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 296212 chr1 915868 915868 C T rs974710449 PERM1 Nonsynonymous SNV S181N 0 0 0.007 0 0 0 0 2 0 0 0 0 8.536 296213 chr18 77170856 77170856 C T NFATC1 Nonsynonymous SNV S194L 0 0.003 0 0 0 1 0 0 0 0 0 0 30 296214 chr11 56043507 56043507 T C rs147254260 OR5T1 Synonymous SNV A131A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.148 296215 chr20 11791047 11791047 G A rs201832464 LINC00687 0 0 0.003 0 0 0 0 1 0 0 0 0 2.769 296216 chr7 38475878 38475878 C G rs17171345 AMPH Nonsynonymous SNV M376I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 19.86 296217 chr7 141730254 141730254 C T rs367803242 MGAM Synonymous SNV N438N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.861 296218 chr11 60229970 60229970 G A rs150061756 MS4A1 Synonymous SNV T41T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.395 296219 chr18 46690105 46690105 G A rs770130369 DYM Stop gain Q504X 0 0 0 1 0 0 0.003 0 0 0 0 0 42 296220 chr7 79818473 79818473 A G rs773307363 GNAI1 Nonsynonymous SNV T25A 0 0.003 0 0 0 1 0 0 0 0 0 0 19.95 296221 chr20 34188731 34188731 C T rs187028748 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 296222 chr11 62349073 62349073 G C rs200890357 TUT1 Nonsynonymous SNV P125R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 296223 chr11 62557296 62557296 G A MIR6748 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 296224 chr20 40757450 40757450 G A PTPRT Synonymous SNV L931L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.846 296225 chr20 43052819 43052819 A G rs770962344 HNF4A Nonsynonymous SNV I352V 0 0 0.007 0 0 0 0 2 0 0 1 0 15.87 296226 chr7 99506323 99506325 TCT - rs774621750 TRIM4 E201del 0 0.003 0 0 0 1 0 0 0 0 0 0 296227 chr20 44473004 44473004 C T rs200795056 ACOT8 Nonsynonymous SNV E182K 0.001 0 0.01 0 1 0 0 3 0 0 1 0 20.5 296228 chr7 158540910 158540910 G C ESYT2 Nonsynonymous SNV P519R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 296229 chr20 48252946 48252946 T C rs778426736 B4GALT5 Nonsynonymous SNV N357S 0 0 0.007 0 0 0 0 2 0 0 0 0 16.54 296230 chr20 49510039 49510039 C G rs139951165 ADNP Synonymous SNV S404S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.848 296231 chr19 18542200 18542200 A G rs530924478 SSBP4 Nonsynonymous SNV N136S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.838 296232 chr19 19609512 19609512 G A GATAD2A Synonymous SNV Q395Q 0.003 0 0 0 3 0 0 0 0 0 0 0 9.763 296233 chr19 19681447 19681447 T C PBX4 Nonsynonymous SNV K130R 0.003 0 0 0 3 0 0 0 0 0 0 0 26 296234 chr19 19762525 19762525 G A ATP13A1 Synonymous SNV L770L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.21 296235 chr18 77659291 77659291 G A rs370572094 KCNG2 Synonymous SNV A292A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.14 296236 chr11 67168200 67168200 C T rs749929973 PPP1CA Synonymous SNV E82E 0 0 0.007 0 0 0 0 2 0 0 0 0 9.903 296237 chr11 67202562 67202562 G A rs375472471 RPS6KB2 Synonymous SNV S457S 0 0 0.007 0 0 0 0 2 0 0 0 0 7.043 296238 chr11 67372570 67372570 C A rs536814563 C11orf72 0 0 0.007 0 0 0 0 2 0 0 0 0 5.738 296239 chr19 23927113 23927113 C T rs143114236 ZNF681 Synonymous SNV K413K 0.003 0.003 0 0 3 1 0 0 0 0 0 0 8.907 296240 chr19 30106170 30106170 C T rs184488449 POP4 Synonymous SNV C182C 0.003 0 0 0 3 0 0 0 0 0 0 0 8.751 296241 chr20 62626767 62626767 A G rs778595280 PRPF6 Nonsynonymous SNV T235A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 296242 chr11 76910856 76910856 C A rs61900036 MYO7A Synonymous SNV P1615P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.61 296243 chr8 22005956 22005956 C T rs115515473 LGI3 Nonsynonymous SNV R455H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 296244 chr7 116937789 116937789 C A rs147526832 WNT2 Nonsynonymous SNV V244L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 296245 chr7 117232466 117232466 C T rs151235408 CFTR Synonymous SNV L749L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.65 296246 chr19 17476290 17476290 C G rs754942023 PLVAP Nonsynonymous SNV E328D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 296247 chr7 123152125 123152125 A G rs775544584 IQUB Synonymous SNV Y90Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 296248 chr11 85406316 85406316 C A rs190635778 SYTL2 Nonsynonymous SNV K243N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 296249 chr7 123516866 123516866 A G rs762628428 HYAL4 Nonsynonymous SNV N368S 0 0.003 0 0 0 1 0 0 0 0 0 0 25 296250 chr19 17838781 17838781 G C rs771764421 MAP1S Nonsynonymous SNV R837P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 296251 chr8 25747352 25747352 G A rs777243190 EBF2 Nonsynonymous SNV H223Y 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 296252 chr21 34399544 34399544 A G OLIG2 Nonsynonymous SNV N125S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 296253 chr11 93454832 93454837 GTGTGT - rs752759263 SCARNA9 0 0 0.003 0 0 0 0 1 0 0 0 0 296254 chr21 35821646 35821646 T C rs767972997 KCNE1, KCNE1B Nonsynonymous SNV Q96R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 296255 chr11 96117437 96117437 C T rs369937047 CCDC82 Nonsynonymous SNV D159N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 296256 chr12 100994201 100994201 T A rs75592061 GAS2L3 Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.866 296257 chr19 20808075 20808075 C T rs141528808 ZNF626 Nonsynonymous SNV C203Y 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 296258 chr7 140221878 140221878 G A rs61737088 DENND2A Synonymous SNV N896N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.47 296259 chr7 140227184 140227184 C T rs76760136 DENND2A Synonymous SNV P813P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.23 296260 chr7 141840850 141840850 C T rs549297711 MGAM2 Synonymous SNV Y416Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.415 296261 chr8 56436222 56436222 G T XKR4 Synonymous SNV V463V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.376 296262 chr12 109617880 109617880 C T rs992098222 ACACB Synonymous SNV A602A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 296263 chr12 109717557 109717557 C T rs764835470 FOXN4 Synonymous SNV P491P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 296264 chr21 45837893 45837893 G A rs761139109 TRPM2 Nonsynonymous SNV R1077H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 296265 chr12 111785792 111785792 C T rs778605501 CUX2 Nonsynonymous SNV P1313L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.326 296266 chr19 4171957 4171957 C T CREB3L3 Synonymous SNV D458D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.705 296267 chr7 144098460 144098460 G A rs573084275 NOBOX Nonsynonymous SNV R175C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.14 296268 chr8 80992612 80992612 T C TPD52 Nonsynonymous SNV Y26C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 296269 chr8 81426218 81426218 C T ZBTB10 Synonymous SNV G645G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 296270 chr12 113515542 113515542 C T DTX1 Synonymous SNV P191P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 296271 chr12 120615535 120615535 G A rs187134354 GCN1 Synonymous SNV Y227Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.197 296272 chr22 19706077 19706077 G A rs375029527 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 296273 chr12 121880565 121880565 G A KDM2B Synonymous SNV P824P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.15 296274 chr19 55995118 55995118 C A rs151142470 ZNF628 Nonsynonymous SNV T853K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 296275 chr19 56459496 56459496 C T rs766736034 NLRP8 Synonymous SNV V76V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 296276 chr22 28193517 28193517 G A MN1 Synonymous SNV L1005L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.381 296277 chr22 29879545 29879545 C T rs144040465 NEFH Synonymous SNV A355A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.99 296278 chr12 133733432 133733432 G A rs746855575 ZNF10 Nonsynonymous SNV V534I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 296279 chr8 133153571 133153571 G A KCNQ3 Synonymous SNV L304L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.471 296280 chr8 11710144 11710144 G A rs777842205 CTSB Synonymous SNV L63L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 296281 chr12 19512403 19512403 C G rs559796154 PLEKHA5 Nonsynonymous SNV P952A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.884 296282 chr22 31743429 31743429 G C LINC01521 0 0 0.003 0 0 0 0 1 0 0 0 0 3.668 296283 chr12 25314062 25314062 G A rs572945558 CASC1 Stop gain R25X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 296284 chr19 58265777 58265777 A G rs141053614 ZNF776 Nonsynonymous SNV T427A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 296285 chr8 21980067 21980067 C G rs376088952 HR Nonsynonymous SNV R687P 0 0.003 0 0 0 1 0 0 0 0 0 0 28 296286 chr19 49106992 49107009 TGCGGGCTGCGGCCCCGC - FAM83E Q306_P311del 0.003 0 0 0 3 0 0 0 0 0 0 0 296287 chr19 49107014 49107014 G - FAM83E L305Cfs*50 0.003 0 0 0 3 0 0 0 0 0 0 0 296288 chr8 22389753 22389753 G T PPP3CC Nonsynonymous SNV R386L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 296289 chr8 23082480 23082480 G A rs753799152 TNFRSF10A Nonsynonymous SNV A32V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.94 296290 chr8 38852988 38852988 C A TM2D2 Nonsynonymous SNV C12F 0 0.003 0 0 0 1 0 0 0 0 0 0 8.934 296291 chr8 41161007 41161007 T C rs141186016 SFRP1 Nonsynonymous SNV I199V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 296292 chr22 50439021 50439021 G T rs777459621 IL17REL Nonsynonymous SNV L131I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 296293 chr12 52093514 52093514 C T rs375801783 SCN8A Synonymous SNV N289N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.13 296294 chr8 55533563 55533563 C A RP1 Nonsynonymous SNV H13N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 296295 chr8 73480349 73480349 G A rs536816083 KCNB2 Nonsynonymous SNV G127E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 296296 chr12 56231152 56231152 C T rs146221525 MMP19 Nonsynonymous SNV G399R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 296297 chr2 112854849 112854849 G T TMEM87B Nonsynonymous SNV R418I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 296298 chr19 54304637 54304637 C T rs140731275 NLRP12 Nonsynonymous SNV R868H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 1.261 296299 chr12 57431686 57431686 C T rs200450661 MYO1A Nonsynonymous SNV R643Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.6 296300 chr12 57454720 57454720 C G rs114352356 NEMP1 Nonsynonymous SNV C257S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.26 296301 chr2 113887221 113887221 G A IL1RN Nonsynonymous SNV G62E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.442 296302 chr12 57921309 57921309 C G MBD6 Nonsynonymous SNV P701R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.7 296303 chr12 58006774 58006774 T C rs145325473 ARHGEF25 Synonymous SNV A53A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 296304 chr12 64195919 64195919 G A rs1017626426 RXYLT1 Synonymous SNV V159V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.087 296305 chr19 45661972 45661972 G A rs150780522 NKPD1 Nonsynonymous SNV R160W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 296306 chr9 37740309 37740309 C T rs929814999 FRMPD1 Nonsynonymous SNV T595I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 296307 chr8 117783818 117783818 - CC UTP23 Frameshift insertion G164Qfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 296308 chr2 131099618 131099618 T G rs748303723 CCDC115 Nonsynonymous SNV K27N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24 296309 chr8 121823848 121823848 G A rs201940243 SNTB1 Nonsynonymous SNV A79V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.03 296310 chr9 78969117 78969117 G A PCSK5 Nonsynonymous SNV D1719N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 296311 chr12 7172447 7172447 T G rs143509101 C1S Nonsynonymous SNV I20M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 296312 chr12 7463324 7463324 G T rs200593237 ACSM4 Nonsynonymous SNV S201I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 296313 chr2 148701093 148701093 T C ORC4 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 296314 chr19 53453131 53453131 G A rs146901011 ZNF816 Stop gain Q633X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 35 296315 chr2 160204108 160204108 A G rs751483034 BAZ2B Synonymous SNV D1745D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.315 296316 chr8 144658705 144658705 G A NAPRT Synonymous SNV L79L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.199 296317 chr2 168107035 168107035 A G rs143084183 XIRP2 Nonsynonymous SNV K2823E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.004 296318 chr8 144946101 144946101 C T rs200370864 EPPK1 Nonsynonymous SNV G441S 0 0.003 0.007 0 0 1 0 2 0 0 0 0 7.458 296319 chr19 58992005 58992005 G A rs371204925 ZNF446 Nonsynonymous SNV R422H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 33 296320 chr19 55831807 55831807 G C rs369382915 TMEM150B Nonsynonymous SNV P50A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 296321 chr2 177054744 177054744 G T rs770025854 HOXD1 Nonsynonymous SNV R287S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 296322 chr2 179428654 179428654 A G TTN Nonsynonymous SNV I18337T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 296323 chr13 113459276 113459276 A G ATP11A Synonymous SNV T56T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.614 296324 chr2 179650814 179650814 G C TTN Nonsynonymous SNV Q665E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 296325 chr13 114535609 114535609 G A GAS6 Synonymous SNV T317T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 296326 chr13 25479714 25479714 G A rs144938364 CENPJ Nonsynonymous SNV T821M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 296327 chr13 30061877 30061877 A C MTUS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.661 296328 chr13 41768308 41768308 G A rs779379416 KBTBD7 Nonsynonymous SNV S29L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 296329 chr1 150525555 150525555 G C ADAMTSL4 Nonsynonymous SNV R87P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 296330 chr9 35091452 35091452 C T rs75579358 PIGO Nonsynonymous SNV R811Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 20.5 296331 chr13 49086966 49086966 C T RCBTB2 Nonsynonymous SNV G115S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 296332 chr2 208986579 208986579 G A rs374584101 CRYGD Nonsynonymous SNV R115C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 296333 chr13 99037063 99037063 A G rs139336426 FARP1 Synonymous SNV L192L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.937 296334 chr9 87359924 87359924 C T rs78629699 NTRK2 Nonsynonymous SNV T255M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 27.5 296335 chr14 102793153 102793153 A G rs781672974 ZNF839 Nonsynonymous SNV M258V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 296336 chr9 95050188 95050188 T C IARS1 Nonsynonymous SNV Y94C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 296337 chr14 104482381 104482381 G A rs745509162 TDRD9 Nonsynonymous SNV A763T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 296338 chr14 105834867 105834867 C T rs587729444 PACS2 Synonymous SNV S244S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 296339 chr9 100124523 100124523 G A rs114455607 CCDC180 Synonymous SNV P1278P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.52 296340 chr1 167023580 167023580 G A rs35152579 GPA33 Synonymous SNV L317L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.25 296341 chr9 108223810 108223810 A C FSD1L Nonsynonymous SNV K9Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.588 296342 chr2 234591352 234591352 T G rs200834770 UGT1A7 Nonsynonymous SNV F257V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 296343 chr14 21559135 21559135 C T ZNF219 Nonsynonymous SNV G577R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 296344 chr1 116243920 116243931 TCATCATCATCT - rs764957093 CASQ2 E377_D380del 0.003 0.003 0 0 3 1 0 0 0 0 0 0 296345 chr14 24522957 24522957 A C CARMIL3 Nonsynonymous SNV Q27P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 296346 chr2 241569821 241569821 G A rs553719886 GPR35 Nonsynonymous SNV R151H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 296347 chr10 3183893 3183893 C A PITRM1-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.843 296348 chr2 242610834 242610834 A C rs778526815 ATG4B Nonsynonymous SNV Q374H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.59 296349 chr14 57085338 57085338 T C rs775367896 TMEM260 Synonymous SNV N361N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.273 296350 chr2 36808490 36808490 T C rs377638928 FEZ2 Nonsynonymous SNV M193V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.178 296351 chr9 130159542 130159542 G A rs1007344251 SLC2A8 Synonymous SNV P11P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.42 296352 chr9 130579457 130579457 C T rs138799379 ENG Nonsynonymous SNV R571H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 20.7 296353 chr1 156243215 156243215 C T rs147611925 SMG5 Nonsynonymous SNV V191I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 23.5 296354 chr14 64634063 64634063 G A rs149227847 SYNE2 Nonsynonymous SNV R5573Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 296355 chr1 144931354 144931354 C T PDE4DIP Nonsynonymous SNV V119I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 296356 chr1 156206156 156206156 G A rs62001898 PMF1, PMF1-BGLAP Nonsynonymous SNV R80Q 0.003 0 0 0 3 0 0 0 0 0 0 0 7.306 296357 chr2 71825797 71825797 C G rs148858485 DYSF Nonsynonymous SNV I1194M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 296358 chr2 73486327 73486327 G A rs746489249 FBXO41 Synonymous SNV D849D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.739 296359 chr9 136726513 136726513 C T rs145591299 VAV2 Synonymous SNV A121A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.75 296360 chr1 156880452 156880452 A T PEAR1 Nonsynonymous SNV K623M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 296361 chr1 109794291 109794291 C T rs200453526 CELSR2 Synonymous SNV I530I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.597 296362 chr1 117559822 117559822 T C CD101 Nonsynonymous SNV W447R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.6 296363 chr10 64968044 64968044 C T rs773344012 JMJD1C Nonsynonymous SNV A910T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.004 296364 chr1 20980267 20980267 C T rs201962457 DDOST Synonymous SNV R282R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 296365 chr1 20987762 20987762 G A rs200589624 DDOST Nonsynonymous SNV P45S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 296366 chr1 16097048 16097048 G A rs200348478 FBLIM1 Nonsynonymous SNV R132Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 296367 chr9 139906990 139906990 C T rs149871834 ABCA2 Nonsynonymous SNV G1712S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.9 296368 chr1 1267789 1267789 C T rs374355734 TAS1R3 Nonsynonymous SNV S293L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.64 296369 chr15 101569340 101569340 A T rs775494533 LRRK1 Nonsynonymous SNV M956L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.812 296370 chr15 101597219 101597219 G A rs202198743 LRRK1 Synonymous SNV A1497A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.467 296371 chr3 107097004 107097004 C T rs765000237 CCDC54 Synonymous SNV I190I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.471 296372 chr1 146658599 146658599 G A FMO5 Synonymous SNV R494R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.719 296373 chr15 33359686 33359686 C G rs769260706 FMN1 Nonsynonymous SNV V134L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 296374 chr15 34537529 34537529 T C SLC12A6 Nonsynonymous SNV I619V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 296375 chr15 37173721 37173721 T C LOC145845 0 0 0.003 0 0 0 0 1 0 0 0 0 9.63 296376 chr1 184764486 184764486 G A rs368866776 NIBAN1 Synonymous SNV T804T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.901 296377 chr10 91478600 91478600 G A KIF20B Nonsynonymous SNV V469I 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 296378 chr1 176104219 176104219 T C rs41266110 COP1 Nonsynonymous SNV M59V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.09 296379 chr1 153580511 153580511 G A rs199687860 S100A16 Synonymous SNV R39R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.72 296380 chr1 177001793 177001793 C G rs148328689 ASTN1 Nonsynonymous SNV V222L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 296381 chr3 124281790 124281790 A G rs748997964 KALRN Nonsynonymous SNV E1677G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 296382 chr1 154932053 154932053 C T rs61758740 PYGO2 Nonsynonymous SNV M141I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.06 296383 chr15 42713295 42713295 G A rs117563212 ZNF106 Synonymous SNV A989A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 296384 chr3 126748895 126748895 A T rs145960102 PLXNA1 Synonymous SNV L1683L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 296385 chr15 52901179 52901179 G A FAM214A Synonymous SNV C651C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 296386 chr3 12983210 12983210 C G IQSEC1 Nonsynonymous SNV G60A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.229 296387 chr3 12983355 12983355 C T rs142851488 IQSEC1 Nonsynonymous SNV E12K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 296388 chr1 158226668 158226668 G A rs150698928 CD1A Nonsynonymous SNV V222M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 296389 chr15 62596886 62596886 T C rs541846877 MIR8067 0 0 0.003 0 0 0 0 1 0 0 0 0 1.314 296390 chr1 205039031 205039031 G A rs150948784 CNTN2 Stop gain W758X 0.002 0.003 0 0 2 1 0 0 0 0 0 0 40 296391 chr1 205039032 205039032 G T rs138673473 CNTN2 Nonsynonymous SNV W758C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 31 296392 chr15 64275876 64275876 C T rs8037614 DAPK2 Nonsynonymous SNV R57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296393 chr15 65489132 65489132 G A rs141125003 CILP Synonymous SNV R1164R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.428 296394 chr1 160261169 160261169 G A rs200991611 COPA Nonsynonymous SNV R1135W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 296395 chr15 65994697 65994697 T C rs1001818319 DENND4A Synonymous SNV T792T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.509 296396 chr15 72176035 72176035 T C rs781765543 MYO9A Synonymous SNV Q1766Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.094 296397 chr3 156979034 156979034 A G rs145306147 VEPH1 Synonymous SNV Y752Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.468 296398 chr3 157920890 157920890 A G RSRC1 Nonsynonymous SNV H117R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 296399 chr1 162536032 162536032 G A rs754954530 UAP1 Synonymous SNV Q58Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.838 296400 chr10 71920808 71920808 T C rs190535489 SAR1A Nonsynonymous SNV I66V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.29 296401 chr1 165621214 165621214 G A MGST3 0 0 0 1 0 0 0.003 0 0 0 0 0 26 296402 chr15 81585347 81585347 C T rs202120564 IL16 Nonsynonymous SNV S624F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.001 296403 chr1 2560839 2560839 - C MMEL1 Frameshift insertion L29Afs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 296404 chr10 73579357 73579357 G A rs567165839 PSAP Synonymous SNV D407D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.069 296405 chr15 85478573 85478573 C A rs8187779 SLC28A1 Synonymous SNV R469R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 296406 chr1 29010192 29010192 G A GMEB1 Nonsynonymous SNV G23E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 296407 chr1 179363069 179363069 G T AXDND1 Nonsynonymous SNV A299S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 296408 chr1 33772566 33772566 C T rs755958173 A3GALT2 Nonsynonymous SNV G275D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 296409 chr1 229730466 229730466 C T rs751192828 TAF5L Nonsynonymous SNV V450I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 296410 chr3 195595515 195595515 G A rs989041731 TNK2 Synonymous SNV L569L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.751 296411 chr1 19653060 19653060 C T rs759028494 SLC66A1 Synonymous SNV I187I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.18 296412 chr11 1018314 1018314 G A rs200089063 MUC6 Nonsynonymous SNV T1496I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.155 296413 chr1 243449625 243449625 G A rs367590060 SDCCAG8 Nonsynonymous SNV E158K 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 296414 chr16 2087547 2087547 T G rs199661684 SLC9A3R2 Synonymous SNV G156G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.61 296415 chr10 124392811 124392813 GAG - rs769499997 DMBT1 E1411del 0 0.003 0 0 0 1 0 0 0 0 0 0 296416 chr10 134011966 134011966 C T rs143125195 DPYSL4 Synonymous SNV H223H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 17.8 296417 chr3 48956227 48956227 G A rs376377066 ARIH2OS 0 0 0.003 0 0 0 0 1 0 0 0 0 23 296418 chr16 3339726 3339726 T G rs200998380 ZNF263 Nonsynonymous SNV M407R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.8 296419 chr1 25881402 25881402 C T rs754749143 LDLRAP1 Nonsynonymous SNV R95W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 34 296420 chr3 51426448 51426448 C A MANF Nonsynonymous SNV D159E 0 0 0.003 0 0 0 0 1 0 0 0 0 25 296421 chr3 52479001 52479001 G A rs569817739 SEMA3G Nonsynonymous SNV L15F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.764 296422 chr11 248855 248855 C T rs139390743 PSMD13 Synonymous SNV L218L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 12.62 296423 chr16 55543209 55543209 C T rs200254323 LPCAT2 Nonsynonymous SNV P39L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 296424 chr3 57131785 57131785 G A rs201420445 IL17RD Nonsynonymous SNV T649M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.276 296425 chr11 1013965 1013965 G T rs369942422 MUC6 Nonsynonymous SNV T2359K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 296426 chr16 57718070 57718070 G A rs555615396 ADGRG3 Nonsynonymous SNV V250I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 296427 chr16 66434855 66434855 C T rs773765526 CDH5 Synonymous SNV A591A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 296428 chr1 35470795 35470805 ACACTGGTTAT - ZMYM6 I628Dfs*16 0.003 0.003 0 0 3 1 0 0 0 0 0 0 296429 chr3 8675578 8675578 G C rs1029989098 SSUH2 Nonsynonymous SNV P16R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.006 296430 chr1 226349243 226349243 C T rs747869899 ACBD3 Synonymous SNV L239L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 296431 chr3 98110381 98110381 G T rs747799587 OR5K3 Nonsynonymous SNV R291I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 296432 chr16 72138992 72138992 C T rs769608483 DHX38 Nonsynonymous SNV P740S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 296433 chr16 778424 778424 G A HAGHL Nonsynonymous SNV G133S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 296434 chr16 78064671 78064671 G A rs749531793 CLEC3A Nonsynonymous SNV G176D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 296435 chr4 106640668 106640668 G T GSTCD Nonsynonymous SNV C293F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 296436 chr4 109084802 109084802 G A rs200684581 LEF1 Synonymous SNV S112S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 296437 chr1 232538149 232538149 C T rs370117910 SIPA1L2 Nonsynonymous SNV D1671N 0 0 0 1 0 0 0.003 0 0 0 0 0 33 296438 chr11 1605847 1605847 G A rs373008174 KRTAP5-1 Synonymous SNV P211P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.554 296439 chr4 113568658 113568658 A T rs375697987 LARP7 Nonsynonymous SNV Q317L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.569 296440 chr1 233750066 233750066 A G rs147368935 KCNK1 Nonsynonymous SNV D50G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 296441 chr1 234527327 234527327 G A rs531621962 TARBP1 Nonsynonymous SNV P1621L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.87 296442 chr1 3807387 3807387 C T rs374258021 C1orf174 Nonsynonymous SNV G122S 0.002 0 0 0 2 0 0 0 0 0 0 0 2.534 296443 chr1 29448230 29448230 G C rs745909488 TMEM200B Synonymous SNV P37P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.275 296444 chr1 29631342 29631342 G T rs139236311 PTPRU Synonymous SNV R908R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 296445 chr4 126372626 126372626 A C FAT4 Synonymous SNV S3487S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.071 296446 chr4 128651703 128651703 G T rs141499993 SLC25A31 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 296447 chr1 238049084 238049084 G A rs201207296 ZP4 Synonymous SNV P314P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.07 296448 chr1 242287931 242287931 A G PLD5 Nonsynonymous SNV C50R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 296449 chr1 242287933 242287934 CT - PLD5 S49Lfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 296450 chr1 242287936 242287940 CAGTT - PLD5 N47Qfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 296451 chr4 144620140 144620140 A G FREM3 Synonymous SNV S563S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 296452 chr16 89347686 89347686 G A rs977964461 ANKRD11 Nonsynonymous SNV A1755V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 296453 chr20 25198181 25198181 G A rs755231373 ENTPD6 Nonsynonymous SNV R63Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11 296454 chr16 89799759 89799759 C G ZNF276 Nonsynonymous SNV P407A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 296455 chr17 10265761 10265761 G A rs61745307 MYH13 Synonymous SNV I88I 0 0 0.007 0 0 0 0 2 0 0 0 0 13.07 296456 chr1 62455997 62455997 C T rs773727359 PATJ Synonymous SNV A1276A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 13.2 296457 chr4 15841741 15841741 G A rs1047949141 CD38 Nonsynonymous SNV R251K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.341 296458 chr4 1729621 1729621 T C rs192536254 TACC3 Synonymous SNV S164S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.037 296459 chr20 35128724 35128724 A G rs775608409 DLGAP4 Nonsynonymous SNV N34S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.973 296460 chr11 36654840 36654840 A G rs149036446 C11orf74 Nonsynonymous SNV H48R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 0.001 296461 chr1 44605999 44605999 C A KLF18 Synonymous SNV T435T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.003 296462 chr1 7845625 7845625 C T rs374148482 PER3 Nonsynonymous SNV R85C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 296463 chr1 26608828 26608828 G A rs1134584 UBXN11 Nonsynonymous SNV P389S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 296464 chr11 6498411 6498411 G C rs374345673 ARFIP2 Nonsynonymous SNV L235V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 296465 chr1 26608835 26608853 ACCGGGACCGGGACTGGGG AG UBXN11 P381Sfs*21 0 0 0 1 0 0 0.003 0 0 0 0 0 296466 chr1 26608836 26608853 CCGGGACCGGGACTGGGG - UBXN11 S382_P387del 0 0 0 1 0 0 0.003 0 0 0 0 0 296467 chr1 26608876 26608876 G T rs747728659 UBXN11 Nonsynonymous SNV P373T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 296468 chr1 27429805 27429805 - G rs769398918 SLC9A1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 296469 chr1 27239998 27239998 G A rs778073494 NR0B2 Nonsynonymous SNV A145V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.42 296470 chr17 2298637 2298637 G C rs367751791 MNT Nonsynonymous SNV A62G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 296471 chr1 31742041 31742041 T C SNRNP40 Synonymous SNV V274V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.112 296472 chr1 91861901 91861901 T C HFM1 Nonsynonymous SNV I45V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 296473 chr4 3319034 3319034 C T rs141967621 RGS12 Synonymous SNV S379S 0 0 0.007 0 0 0 0 2 0 0 0 0 10.86 296474 chr1 33558961 33558961 C T AZIN2 Synonymous SNV S82S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 296475 chr4 3427241 3427241 C A rs375852981 RGS12 Nonsynonymous SNV D447E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 296476 chr4 3450999 3450999 C T rs138871695 HGFAC Synonymous SNV N607N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 296477 chr17 33880068 33880068 A G rs1010232720 SLFN14 Nonsynonymous SNV Y529H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 296478 chr11 19735292 19735292 C G rs184978478 NAV2 Synonymous SNV P17P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.18 296479 chr17 38911469 38911469 C T rs766179985 KRT25 Nonsynonymous SNV G19R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 296480 chr11 22646387 22646387 T C rs200416138 FANCF Nonsynonymous SNV K324E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 4.775 296481 chr4 6086601 6086601 G A rs200699458 JAKMIP1 Nonsynonymous SNV T144M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 296482 chr20 47589800 47589800 G A rs147534008 ARFGEF2 Synonymous SNV E548E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.925 296483 chr17 39553669 39553669 C T rs140764683 KRT31 Synonymous SNV V41V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.909 296484 chr11 57365748 57365748 C T rs185342631 SERPING1 Nonsynonymous SNV A2V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.1 296485 chr20 31547946 31547946 A C rs188437954 EFCAB8 Synonymous SNV P1124P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.014 296486 chr11 47256845 47256845 G C rs761699363 DDB2 Nonsynonymous SNV R302P 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 296487 chr20 31549386 31549386 G A rs186828263 EFCAB8 Nonsynonymous SNV V1280M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.761 296488 chr4 7736036 7736036 G A rs749336649 SORCS2 Synonymous SNV A1082A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.24 296489 chr17 42395576 42395576 C T rs147484929 RUNDC3A Synonymous SNV P437P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 296490 chr21 33063168 33063168 A G SCAF4 Synonymous SNV P594P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.231 296491 chr11 48387158 48387158 A G OR4C5 Nonsynonymous SNV F287S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 296492 chr17 4461726 4461726 C T rs200634151 GGT6 Nonsynonymous SNV R127H 0 0 0.007 0 0 0 0 2 0 0 0 0 17.98 296493 chr11 61727378 61727378 T C rs765333391 BEST1 Nonsynonymous SNV L389P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.585 296494 chr17 46865206 46865206 G A rs763013800 TTLL6 Nonsynonymous SNV T212I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 296495 chr20 40033377 40033377 G T CHD6 Nonsynonymous SNV H2668Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.059 296496 chr4 87614801 87614801 G A rs567152948 PTPN13 Nonsynonymous SNV R203Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296497 chr17 4794973 4794973 C A rs199633382 MINK1 Nonsynonymous SNV P635T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 296498 chr17 48431200 48431200 G A rs373254318 XYLT2 Synonymous SNV P115P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.116 296499 chr17 48703579 48703579 G A CACNA1G Nonsynonymous SNV E2074K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 296500 chr17 4917019 4917019 C T rs376123205 KIF1C Synonymous SNV G521G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.54 296501 chr17 4936784 4936784 C T rs150164483 SLC52A1 Nonsynonymous SNV V334M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 296502 chr17 53798398 53798398 C T rs780700702 TMEM100 Nonsynonymous SNV A12T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 296503 chr5 111598205 111598205 G A EPB41L4A Nonsynonymous SNV L210F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 296504 chr11 55418398 55418398 G A rs145635951 OR4S2 Nonsynonymous SNV V7I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.793 296505 chr17 57105958 57105958 A C TRIM37 Nonsynonymous SNV V538G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 296506 chr5 1232362 1232362 G A rs377334984 SLC6A18 Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.686 296507 chr5 128796269 128796269 G T ADAMTS19-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.729 296508 chr5 128796341 128796341 A C rs187021357 ADAMTS19-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.527 296509 chr21 46876711 46876711 C T COL18A1 Synonymous SNV L423L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.356 296510 chr5 131705565 131705565 G C rs568975386 MIR3936HG 0 0 0.003 0 0 0 0 1 0 0 0 0 3.417 296511 chr11 66813267 66813267 G A SYT12 Synonymous SNV K222K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.59 296512 chr5 132209767 132209767 C A rs746242594 LEAP2 Synonymous SNV I61I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 296513 chr5 134077174 134077174 T G rs377451121 CAMLG Synonymous SNV L198L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.639 296514 chr20 60774273 60774273 C A rs138973644 MTG2 Nonsynonymous SNV H262Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.6 296515 chr20 3210222 3210222 T C SLC4A11 Nonsynonymous SNV I526V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 296516 chr5 137903145 137903145 C A rs758625540 HSPA9 Nonsynonymous SNV V239F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 296517 chr20 61039972 61039972 G A GATA5 Nonsynonymous SNV P372S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 7.258 296518 chr5 13923445 13923445 C T rs200553244 DNAH5 Nonsynonymous SNV V128M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 296519 chr5 140306929 140306929 A G rs144568777 PCDHAC1 Nonsynonymous SNV D151G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 296520 chr5 140432223 140432223 C T rs2233592 PCDHB1 Nonsynonymous SNV L390F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 296521 chr5 140579607 140579607 G C rs373676380 PCDHB11 Nonsynonymous SNV S87T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.389 296522 chr5 140711097 140711097 C G rs17097185 PCDHGA1 Nonsynonymous SNV H282Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 296523 chr5 140711954 140711954 C G rs116679801 PCDHGA1 Nonsynonymous SNV P568R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 296524 chr5 140718552 140718552 A G rs6878145 PCDHGA2 Nonsynonymous SNV Q5R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.478 296525 chr5 140718750 140718750 G T rs61749035 PCDHGA2 Nonsynonymous SNV R71M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 296526 chr5 140720358 140720358 A G rs61749022 PCDHGA2 Nonsynonymous SNV H607R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 296527 chr5 140751728 140751728 C T rs777425940 PCDHGB3 Synonymous SNV T589T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.017 296528 chr5 140779662 140779662 G A rs6873830 PCDHGB5 Synonymous SNV L656L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.241 296529 chr5 140793393 140793393 C T rs1363449 PCDHGA10 Synonymous SNV T217T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.92 296530 chr20 48494522 48494523 AT - rs762979646 SLC9A8 F379Cfs*9 0.002 0 0 0 2 0 0 0 0 0 0 0 296531 chr20 43727327 43727327 G A KCNS1 Nonsynonymous SNV T29I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.243 296532 chr11 87013393 87013393 T C rs35073361 TMEM135 Nonsynonymous SNV Y181H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 18.98 296533 chr11 56380072 56380072 G C OR5M1 Nonsynonymous SNV Q303E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.44 296534 chr17 74382044 74382044 C G rs374183250 SPHK1 Nonsynonymous SNV L11V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 296535 chr20 18470523 18470523 A G rs201470200 RBBP9 Nonsynonymous SNV V149A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 296536 chr11 57080824 57080824 C T rs748693299 TNKS1BP1 Synonymous SNV S446S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.39 296537 chr17 76047392 76047392 C A rs766958610 TNRC6C Nonsynonymous SNV P750Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 296538 chr21 31933511 31933511 C T rs138759843 KRTAP19-7 Nonsynonymous SNV R33H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.602 296539 chr11 57886019 57886019 C T rs147763350 OR9I1 Nonsynonymous SNV A300T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 296540 chr20 5049926 5049926 T G rs148412505 TMEM230 Nonsynonymous SNV M98L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.411 296541 chr5 156566197 156566197 A G rs559873311 MED7 Synonymous SNV N82N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 296542 chr11 60718793 60718793 C T SLC15A3 Synonymous SNV L77L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 296543 chr17 78326370 78326370 A G RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.719 296544 chr17 79095065 79095065 G A rs184717207 AATK Nonsynonymous SNV R788C 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 296545 chr5 172185138 172185138 A G rs75379011 LOC101928093 0 0 0.003 0 0 0 0 1 0 0 0 0 7.368 296546 chr20 61041484 61041484 C T rs552849600 GATA5 Nonsynonymous SNV G275R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 296547 chr17 80543814 80543814 C T rs149135118 FOXK2 Synonymous SNV T438T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 15.72 296548 chr20 31877748 31877748 C T BPIFB1 Synonymous SNV D105D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.05 296549 chr22 42610356 42610356 T C rs886104467 TCF20 Nonsynonymous SNV Q319R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 296550 chr5 176675247 176675247 C T rs749858730 NSD1 Synonymous SNV H1521H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.87 296551 chr20 33567241 33567241 C G rs779473720 MYH7B Nonsynonymous SNV A89G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.12 296552 chr20 62153190 62153190 C T rs113534342 PPDPF Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 296553 chr11 64064413 64064413 C T KCNK4 Nonsynonymous SNV H85Y 0 0.003 0 0 0 1 0 0 0 0 0 0 16.16 296554 chr11 64112608 64112608 G A rs148384176 CCDC88B Synonymous SNV R865R 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 3.002 296555 chr5 1798835 1798835 A G rs761929388 MRPL36 Nonsynonymous SNV L72P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 296556 chr22 46724761 46724761 C A GTSE1 Nonsynonymous SNV P634Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 296557 chr18 21136452 21136452 T C rs767510147 NPC1 Nonsynonymous SNV I361V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 296558 chr20 40739064 40739064 C T rs780908301 PTPRT Nonsynonymous SNV V1055I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 296559 chr11 125499316 125499316 A C CHEK1 Synonymous SNV R145R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.626 296560 chr18 34359430 34359430 C T rs761561531 FHOD3 Synonymous SNV S1402S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 296561 chr5 434581 434581 C G rs200762873 AHRR Nonsynonymous SNV P580A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 296562 chr11 71725933 71725933 G A rs769055169 NUMA1 Synonymous SNV N872N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.269 296563 chr11 130319349 130319349 G C ADAMTS15 Nonsynonymous SNV G161R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.899 296564 chr11 71948768 71948768 G A rs751974130 INPPL1 Synonymous SNV S1160S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.3 296565 chr22 23237598 23237599 CT - rs547097425 IGLL5 Stop gain S49* 0 0.003 0 0 0 1 0 0 0 0 0 0 296566 chr20 57042465 57042465 G A rs369198058 APCDD1L Synonymous SNV T146T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.103 296567 chr12 970413 970413 A G rs149388376 WNK1 Nonsynonymous SNV T619A 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.411 296568 chr5 61668319 61668319 C G rs186954229 KIF2A Synonymous SNV G567G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.274 296569 chr5 619129 619129 C T rs776833173 CEP72 Nonsynonymous SNV P36L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 296570 chr18 59217429 59217429 A C rs759557119 CDH20 Nonsynonymous SNV I623L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 296571 chr11 77933152 77933152 T C GAB2 Nonsynonymous SNV N515D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.37 296572 chr18 66505943 66505943 G A rs772793695 CCDC102B Nonsynonymous SNV E203K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 296573 chr20 60990295 60990295 G A rs376884862 RBBP8NL Nonsynonymous SNV R226W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 296574 chr18 8387169 8387169 C T rs142668687 PTPRM Nonsynonymous SNV R1369C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 33 296575 chr5 9043046 9043046 G C rs748701721 SEMA5A Nonsynonymous SNV A1063G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.71 296576 chr19 10625355 10625355 C T S1PR5 Synonymous SNV R111R 0 0 0.007 0 0 0 0 2 0 0 0 0 14.3 296577 chr22 17590542 17590550 GGAGGAAGA - rs551742239 IL17RA E782_E784del 0.001 0 0 0 1 0 0 0 0 0 0 0 296578 chr22 17590549 17590551 GAG - IL17RA E784del 0.002 0 0 1 2 0 0.003 0 0 0 0 0 296579 chr11 108277670 108277670 T C rs190082754 C11orf65 Nonsynonymous SNV I34M 0 0.003 0 0 0 1 0 0 0 0 0 0 25 296580 chr19 11224368 11224368 G A rs373848925 LDLR Nonsynonymous SNV V338M 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 1.036 296581 chr12 12419663 12419663 C G LRP6 Nonsynonymous SNV A3P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.3 296582 chr22 28389346 28389346 G T TTC28 Nonsynonymous SNV A1802D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 296583 chr19 1371085 1371085 G T rs200341027 PWWP3A Nonsynonymous SNV R597L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.638 296584 chr6 116691230 116691230 T G rs964882405 LOC100287467 0 0 0.003 0 0 0 0 1 0 0 0 0 7.721 296585 chr19 15567048 15567048 G A rs757758768 RASAL3 Nonsynonymous SNV R530W 0 0 0.01 0 0 0 0 3 0 0 0 0 27.6 296586 chr19 1578357 1578357 C T rs201487894 MBD3 Synonymous SNV P286P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 296587 chr11 119003619 119003619 C T rs754573616 HINFP Synonymous SNV S101S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.74 296588 chr6 12294255 12294255 T G rs768907875 EDN1 Synonymous SNV R104R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.114 296589 chr22 35783110 35783110 C T rs148949789 HMOX1 Nonsynonymous SNV P193S 0.003 0 0 0 3 0 0 0 0 0 0 0 9.844 296590 chr6 129828765 129828765 C T rs377520412 LAMA2 Synonymous SNV D2941D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.25 296591 chr6 131197892 131197892 C A EPB41L2 Nonsynonymous SNV K689N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 296592 chr21 45561278 45561278 T C GATD3A X252Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.313 296593 chr22 30891294 30891294 G A rs9606739 SEC14L4 Nonsynonymous SNV R124C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 296594 chr22 50945406 50945406 C G rs747116901 LMF2 Nonsynonymous SNV K26N 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 296595 chr22 31011329 31011329 C T rs773590736 TCN2 Nonsynonymous SNV R208C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 296596 chr11 124767622 124767622 C T rs369687648 ROBO4 Nonsynonymous SNV G24R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 296597 chr19 18377956 18377956 C T rs573594173 IQCN Nonsynonymous SNV A132T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 296598 chr11 125237835 125237835 A C rs201213983 PKNOX2 Nonsynonymous SNV I61L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.11 296599 chr6 150209805 150209805 - GA RAET1E 0 0 0.003 0 0 0 0 1 0 0 0 0 296600 chr19 1918975 1918975 C T rs200400993 SCAMP4 Synonymous SNV S83S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 296601 chr22 43284734 43284734 T C rs35383004 PACSIN2 Nonsynonymous SNV N134S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 13.65 296602 chr21 47639478 47639478 C T rs149739328 LSS Nonsynonymous SNV V107M 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 296603 chr22 43529061 43529061 C A rs77547475 MCAT Nonsynonymous SNV E387D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.34 296604 chr22 43579008 43579008 G C rs115093979 TTLL12 Nonsynonymous SNV L109V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.69 296605 chr2 111875374 111875374 A G rs574186205 ACOXL Nonsynonymous SNV K575R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 296606 chr22 39175612 39175612 C T DNAL4 Nonsynonymous SNV A54T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 296607 chr22 18273634 18273634 T C rs774634742 MICAL3 Nonsynonymous SNV N1958S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 296608 chr19 327183 327183 G A rs201881025 MIER2 Nonsynonymous SNV P112L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 296609 chr22 19969210 19969210 G A rs368625277 ARVCF Synonymous SNV P140P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 296610 chr22 19423368 19423368 G A MRPL40 Synonymous SNV L124L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.869 296611 chr12 2937520 2937520 C T rs752221715 NRIP2 Nonsynonymous SNV A186T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.438 296612 chr6 167754589 167754589 G T rs748216967 TTLL2 Nonsynonymous SNV V401L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.269 296613 chr6 168226533 168226533 G T rs779550535 AFDN-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 7.963 296614 chr6 168319422 168319422 T C rs140621299 AFDN Nonsynonymous SNV I883T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 296615 chr6 168352121 168352121 G A rs533166937 AFDN Nonsynonymous SNV V1339I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 296616 chr2 179426130 179426130 A C rs777582284 TTN Synonymous SNV S19178S 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Likely benign 0.766 296617 chr6 170102280 170102280 G C C6orf120 Nonsynonymous SNV A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.117 296618 chr12 6672649 6672649 G C rs374831227 NOP2 Nonsynonymous SNV H236Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.059 296619 chr19 39221513 39221513 C T rs1049635746 CAPN12 Nonsynonymous SNV M713I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 296620 chr19 39221763 39221763 G A rs748311659 CAPN12 Synonymous SNV H686H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.493 296621 chr2 116485449 116485449 C A DPP10 Synonymous SNV R173R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.07 296622 chr6 35467767 35467767 C T rs141980901 TULP1 Nonsynonymous SNV A443T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 296623 chr2 160994236 160994236 G A rs200295975 ITGB6 Stop gain Q362X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 37 296624 chr2 10220218 10220218 C G rs186266646 CYS1 Nonsynonymous SNV V45L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.598 296625 chr12 12514203 12514203 C G rs3741795 BORCS5 Nonsynonymous SNV S22C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 296626 chr2 105924127 105924127 G A rs760879498 TGFBRAP1 Nonsynonymous SNV P211L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 296627 chr2 135975138 135975138 T A rs768951318 ZRANB3 Nonsynonymous SNV M796L 0.002 0 0 0 2 0 0 0 0 0 0 0 23 296628 chr2 110936025 110936025 T C NPHP1 Nonsynonymous SNV T102A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 296629 chr2 112933401 112933401 C T FBLN7 Nonsynonymous SNV H173Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 296630 chr2 144525562 144525562 G C ARHGAP15 Nonsynonymous SNV V417L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.22 296631 chr2 210887679 210887679 - T rs769695051 KANSL1L Frameshift insertion N944Kfs*2 0.003 0 0 0 3 0 0 0 0 0 0 0 296632 chr19 4510954 4510954 G A rs200707942 PLIN4 Synonymous SNV S1006S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.99 296633 chr12 112673355 112673355 T A HECTD4 Nonsynonymous SNV K1903M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 296634 chr2 228418433 228418433 A G rs764767374 AGFG1 Synonymous SNV A477A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 296635 chr2 232325258 232325258 G A rs572122806 NCL Nonsynonymous SNV P277S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 296636 chr12 49919797 49919797 A T rs201737899 SPATS2 Nonsynonymous SNV N466I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 296637 chr12 50295055 50295055 G A rs200044662 FAIM2 Synonymous SNV G23G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 296638 chr19 48917665 48917665 G C rs756854635 GRIN2D Nonsynonymous SNV K412N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 296639 chr12 120634678 120634692 GGCAGCAGCCACAGG - rs572058538 RPLP0 P280_A284del 0 0 0 1 0 0 0.003 0 0 0 0 0 296640 chr12 50746680 50746680 C A FAM186A Nonsynonymous SNV G1312V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 296641 chr22 50960263 50960263 G T NCAPH2 Nonsynonymous SNV W365L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 27.7 296642 chr19 49838988 49838988 C T CD37 Synonymous SNV I29I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 296643 chr22 50945236 50945236 C A rs772219064 LMF2 Nonsynonymous SNV W83L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.3 296644 chr19 50100217 50100217 T C PRR12 Synonymous SNV D875D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 296645 chr6 84862423 84862423 T C CEP162 Nonsynonymous SNV K1081R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 296646 chr12 130184705 130184705 G A rs372463803 TMEM132D Synonymous SNV P206P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 296647 chr19 51165805 51165805 G A SHANK1 Nonsynonymous SNV A1968V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 296648 chr7 100086665 100086665 G C NYAP1 Nonsynonymous SNV A441P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 296649 chr19 52097600 52097600 A C rs62114983 LINC01530 0 0 0.003 0 0 0 0 1 0 0 0 0 0.573 296650 chr19 52620213 52620213 C T rs765237253 ZNF616 Synonymous SNV R68R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.889 296651 chr12 56296075 56296075 C G rs3802998 PYM1 Nonsynonymous SNV E65Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.3 296652 chr2 27305836 27305836 T G rs754865997 EMILIN1 Nonsynonymous SNV L466R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.669 296653 chr12 56660957 56660957 C A rs568001082 COQ10A Nonsynonymous SNV R19S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.12 296654 chr2 27535601 27535601 C G rs760522781 MPV17 Synonymous SNV R75R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 296655 chr19 53770197 53770197 G A rs780039868 VN1R4 Nonsynonymous SNV T241I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.99 296656 chr2 3196197 3196197 C T rs143356052 EIPR1 Nonsynonymous SNV R182H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.58 296657 chr2 1915803 1915803 G A MYT1L Synonymous SNV N566N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.647 296658 chr7 102616580 102616580 C T NFE4 Nonsynonymous SNV S153L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.462 296659 chr19 56047607 56047607 T A rs995456575 SBK2 Nonsynonymous SNV S19C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.499 296660 chr2 32264378 32264378 G A rs148715209 DPY30 Synonymous SNV H18H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.586 296661 chr7 123332624 123332624 G T rs201757948 WASL Nonsynonymous SNV P375Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 296662 chr12 104118855 104118855 C A rs147307613 STAB2 Nonsynonymous SNV R1596S 0 0.003 0 0 0 1 0 0 0 0 0 0 28 296663 chr7 128323053 128323053 G A rs374335078 FAM71F2 Nonsynonymous SNV S257N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 296664 chr7 128452958 128452958 T C CCDC136 Nonsynonymous SNV M913T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 296665 chr19 58992029 58992029 G A rs142233722 ZNF446 Nonsynonymous SNV R430H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 296666 chr7 132174163 132174163 C T rs778856713 PLXNA4 Nonsynonymous SNV R420H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296667 chr12 113796435 113796435 C T rs945758566 PLBD2 Synonymous SNV G10G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 296668 chr7 134644745 134644745 T C CALD1 Synonymous SNV P433P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 296669 chr7 134718910 134718910 G A rs926581325 AGBL3 Nonsynonymous SNV E190K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 296670 chr13 113173298 113173298 T G rs887404366 TUBGCP3 Synonymous SNV P637P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.222 296671 chr7 134853508 134853508 G T rs140377437 CYREN Nonsynonymous SNV A56E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.637 296672 chr13 113963985 113963985 G A LAMP1 Nonsynonymous SNV A71T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 296673 chr7 137266665 137266665 T C rs755805484 DGKI Nonsynonymous SNV N525D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 296674 chr19 6753576 6753576 C G rs775621501 SH2D3A Synonymous SNV A487A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 296675 chr19 7445807 7445807 C T rs535872966 ARHGEF18 Nonsynonymous SNV R217W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 296676 chr12 121678558 121678558 C T rs200750895 CAMKK2 Nonsynonymous SNV G528S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.2 296677 chr7 142561057 142561057 C T rs766499559 EPHB6 Synonymous SNV L24L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 296678 chr7 142760013 142760013 G A rs752645238 OR6W1P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.028 296679 chr12 123028179 123028179 A G KNTC1 Nonsynonymous SNV K186E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.266 296680 chr2 237490164 237490164 G A rs138630570 ACKR3 Synonymous SNV T352T 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.123 296681 chr2 238428559 238428559 C T rs377402911 MLPH Nonsynonymous SNV R188C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 296682 chr12 123699377 123699377 T C rs199921499 MPHOSPH9 Nonsynonymous SNV D334G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 296683 chr14 21969100 21969100 C T rs371811912 METTL3 Synonymous SNV Q357Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.799 296684 chr2 190532298 190532298 G A rs766927593 ASNSD1 Synonymous SNV V480V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.24 296685 chr7 148985546 148985546 G A rs144887524 LOC155060 0 0 0.007 0 0 0 0 2 0 0 0 0 5.866 296686 chr12 125441613 125441613 G A rs751873860 DHX37 Synonymous SNV I742I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.47 296687 chr2 241700123 241700123 C T rs770666285 KIF1A Synonymous SNV Q792Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.71 296688 chr2 27308585 27308585 G A EMILIN1 Nonsynonymous SNV S918N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 296689 chr14 23744804 23744806 CAT - HOMEZ D545del 0 0.003 0 1 0 1 0.003 0 0 0 0 0 296690 chr12 133385000 133385000 G A GOLGA3 Nonsynonymous SNV R219W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 296691 chr19 9072292 9072292 G T MUC16 Nonsynonymous SNV P5052T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.334 296692 chr19 9225878 9225878 C T rs533432203 OR7G1 Nonsynonymous SNV A188T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 296693 chr19 9526374 9526374 G A rs146586902 ZNF266 Stop gain Q54X 0 0 0.003 0 0 0 0 1 0 0 0 0 33 296694 chr1 10720421 10720421 G A rs769559241 CASZ1 Synonymous SNV S226S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.346 296695 chr2 48936111 48936111 C T rs182707541 LHCGR Nonsynonymous SNV R219H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.15 296696 chr7 29983633 29983633 G A rs375687981 SCRN1 Synonymous SNV L100L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 296697 chr7 30101590 30101590 G A rs745796054 PLEKHA8 Synonymous SNV A223A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.897 296698 chr13 42871268 42871268 A T AKAP11 Nonsynonymous SNV M101L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.795 296699 chr2 218700812 218700812 G A rs115718079 TNS1 Nonsynonymous SNV R919C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 35 296700 chr14 52741510 52741510 C T rs199665512 PTGDR Nonsynonymous SNV A303V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.079 296701 chr2 42508048 42508048 C T rs72972015 EML4 Synonymous SNV S184S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 17.28 296702 chr2 42950106 42950106 A T rs75292623 MTA3 Nonsynonymous SNV T500S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.008 296703 chr2 42990378 42990378 A G rs77519354 OXER1 Synonymous SNV F314F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.717 296704 chr1 113459973 113459973 G A rs200783174 SLC16A1 Nonsynonymous SNV T352I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.24 296705 chr2 219529023 219529023 G T RNF25 Nonsynonymous SNV P346H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.5 296706 chr1 114523725 114523725 G T rs768872164 OLFML3 Nonsynonymous SNV R124S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.376 296707 chr7 39991347 39991347 C T CDK13 Synonymous SNV S369S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.815 296708 chr7 43484312 43484312 C G rs769451684 HECW1 Nonsynonymous SNV T514S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 296709 chr13 76457275 76457275 C A rs760792999 LMO7DN 0 0.003 0 0 0 1 0 0 0 0 0 0 4.191 296710 chr2 27353193 27353193 C G rs781386040 ABHD1 Stop gain Y305X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 296711 chr3 130107477 130107477 T C COL6A5 Nonsynonymous SNV I639T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 296712 chr2 48915719 48915719 A C rs750614707 LHCGR Nonsynonymous SNV F406C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 296713 chr1 12252953 12252953 C T rs906035722 TNFRSF1B Synonymous SNV S195S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 296714 chr2 74653393 74653393 T C RTKN Nonsynonymous SNV T557A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.85 296715 chr2 74746857 74746857 A C rs778753797 DQX1 Synonymous SNV A544A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.211 296716 chr2 84800690 84800690 G A DNAH6 Nonsynonymous SNV A635T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.76 296717 chr14 74196687 74196687 G A rs756027039 ELMSAN1 Nonsynonymous SNV A584V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.76 296718 chr13 111532317 111532317 G A ANKRD10 Synonymous SNV S310S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.733 296719 chr2 45620161 45620161 C G rs201615703 SRBD1 Nonsynonymous SNV R874T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 296720 chr1 152382359 152382359 G A rs200128647 CRNN Nonsynonymous SNV P400L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 296721 chr2 47249077 47249077 A C TTC7A Nonsynonymous SNV Y136S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 296722 chr1 153932775 153932775 T C rs137989092 SLC39A1 Synonymous SNV A258A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.683 296723 chr7 75613161 75613161 G A rs782369494 POR Synonymous SNV L351L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.523 296724 chr7 77379082 77379082 A G rs758504244 RSBN1L Nonsynonymous SNV I349V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 296725 chr1 155449098 155449098 A T ASH1L Nonsynonymous SNV I1188N 0 0 0.003 0 0 0 0 1 0 0 0 0 25 296726 chr14 21623524 21623524 C T rs780786551 OR5AU1 Nonsynonymous SNV G170S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 296727 chr1 156536337 156536337 A C IQGAP3 Nonsynonymous SNV W43G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 296728 chr2 97366113 97366113 C T FER1L5 Nonsynonymous SNV R1659C 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 296729 chr7 91736709 91736709 T C rs145675748 AKAP9 Nonsynonymous SNV I3840T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 16.7 296730 chr7 92099562 92099562 C A rs138158636 ERVW-1 Nonsynonymous SNV G45V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.81 296731 chr1 15771121 15771121 A G rs34949635 CTRC Nonsynonymous SNV K172E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.423 296732 chr7 95025657 95025657 C A PON3 Synonymous SNV G2G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 296733 chr7 95157475 95157475 C T ASB4 Nonsynonymous SNV L280F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 296734 chr14 23888431 23888431 G T MYH7 Synonymous SNV T1309T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.457 296735 chr7 99527121 99527121 A G GJC3 Synonymous SNV P41P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.804 296736 chr1 158911930 158911930 A G PYHIN1 Nonsynonymous SNV Q248R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 296737 chr8 103564042 103564042 C T rs369351331 ODF1 Synonymous SNV D29D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 296738 chr2 79384729 79384729 G A rs755346076 REG3A Synonymous SNV P143P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.531 296739 chr2 29147941 29147941 A G WDR43 Synonymous SNV L336L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 296740 chr1 161023102 161023102 C T rs149577194 ARHGAP30 Nonsynonymous SNV V27M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 296741 chr8 105001620 105001620 G A rs199654709 RIMS2 Nonsynonymous SNV M844I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 296742 chr14 35074837 35074837 C T SNX6 Synonymous SNV K82K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 296743 chr14 35182504 35182504 G A rs142164698 CFL2 Synonymous SNV Y72Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.148 296744 chr8 105459601 105459601 A C rs147772269 DPYS Nonsynonymous SNV I185S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 296745 chr8 11142479 11142479 A G MTMR9 Nonsynonymous SNV T28A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 296746 chr15 31339388 31339388 C T TRPM1 Nonsynonymous SNV G581R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 296747 chr2 39187718 39187718 G C ARHGEF33 Nonsynonymous SNV G758R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 296748 chr8 124978417 124978417 G A rs374565862 FER1L6 Nonsynonymous SNV E91K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296749 chr8 125499769 125499769 A C rs76014606 RNF139 Synonymous SNV R627R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 296750 chr14 58604900 58604900 T A rs979554071 ARMH4 Nonsynonymous SNV T393S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 296751 chr2 44190792 44190792 C G LRPPRC Nonsynonymous SNV E475Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 296752 chr1 175332913 175332913 C T rs371202214 TNR Nonsynonymous SNV V547M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 296753 chr8 131792647 131792647 C G rs769618740 ADCY8 Nonsynonymous SNV D1249H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 296754 chr3 132407587 132407587 G A rs202145723 NPHP3 Nonsynonymous SNV A1011V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 28.7 296755 chr2 49195929 49195929 C G FSHR Nonsynonymous SNV K228N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 296756 chr3 123471344 123471344 G A rs376457425 MYLK Synonymous SNV N69N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.48 296757 chr1 183187574 183187574 G A rs369156355 LAMC2 Nonsynonymous SNV A152T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 296758 chr14 68035884 68035884 G A rs535377144 PLEKHH1 Synonymous SNV S431S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.39 296759 chr15 43507513 43507513 G A rs180830933 EPB42 Synonymous SNV S100S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.888 296760 chr14 68123245 68123245 G A VTI1B Nonsynonymous SNV T143I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 296761 chr3 41392397 41392397 C T rs1043233363 ULK4 Synonymous SNV R1228R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.769 296762 chr1 18807552 18807552 C T rs530575072 KLHDC7A Nonsynonymous SNV A26V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 296763 chr14 71444593 71444593 C T rs113064017 PCNX1 Synonymous SNV N513N 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 0.52 296764 chr14 73577772 73577772 T A rs138217901 RBM25 Synonymous SNV S642S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.742 296765 chr15 52553187 52553187 G C rs909454828 MYO5C Synonymous SNV V395V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.09 296766 chr14 76948427 76948427 C G rs749337079 ESRRB Nonsynonymous SNV P195A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 296767 chr8 145579249 145579249 C A FBXL6 Nonsynonymous SNV G521V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 296768 chr15 62352506 62352506 T C VPS13C Nonsynonymous SNV N23S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 296769 chr3 170108084 170108084 A T rs61761942 SKIL Synonymous SNV I455I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 296770 chr1 201750407 201750407 C T rs144845720 NAV1 Nonsynonymous SNV H154Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 296771 chr1 201842072 201842072 G A rs778640930 IPO9 Nonsynonymous SNV R898H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 296772 chr3 172050921 172050921 T C FNDC3B Nonsynonymous SNV C533R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 296773 chr1 202107544 202107544 G A rs747180750 ARL8A Synonymous SNV T52T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 296774 chr3 182737953 182737953 C T rs149017703 MCCC1 Nonsynonymous SNV G531S 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Uncertain significance 17.59 296775 chr15 65982833 65982833 T C DENND4A Nonsynonymous SNV M1323V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.988 296776 chr3 133476786 133476786 C T rs139468631 TF Synonymous SNV G221G 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 9.942 296777 chr8 22421836 22421836 A G rs147249818 SORBS3 Nonsynonymous SNV E239G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 296778 chr14 95088703 95088703 A T rs751623497 SERPINA3 Stop gain K315X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 296779 chr3 100349636 100349636 G T rs753512578 ADGRG7 Nonsynonymous SNV G106V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.27 296780 chr15 70970463 70970463 T C rs61746365 UACA Nonsynonymous SNV N312S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23 296781 chr14 100119046 100119046 C T rs144732406 HHIPL1 Synonymous SNV D247D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.916 296782 chr1 211565226 211565226 A G rs371695060 LINC00467 0 0 0.007 0 0 0 0 2 0 0 0 0 1.897 296783 chr8 27468177 27468185 CCTGCTGCC - MIR6843 0 0 0.003 0 0 0 0 1 0 0 0 0 296784 chr14 104387293 104387293 G C rs199621733 ATP5MPL Nonsynonymous SNV S12C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.58 296785 chr3 151086037 151086037 C T rs150233101 MED12L Nonsynonymous SNV T1148M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 296786 chr1 216246287 216246287 G A rs202075825 USH2A Nonsynonymous SNV S1934L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 296787 chr1 21938056 21938056 G A rs747564731 RAP1GAP Synonymous SNV D308D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 296788 chr14 105916625 105916625 C T rs373334177 MTA1 Synonymous SNV N132N 0 0.003 0 0 0 1 0 0 0 0 0 0 16.54 296789 chr15 23892251 23892251 T G rs886042708 MAGEL2 Synonymous SNV P213P 0.001 0.008 0 0 1 3 0 0 0 1 0 0 Benign/Likely benign 0.974 296790 chr1 223984211 223984211 G C rs758277843 TP53BP2 Nonsynonymous SNV P677R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 296791 chr3 170585814 170585814 T C rs767412824 RPL22L1 Nonsynonymous SNV Q71R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 296792 chr3 193332724 193332724 A G rs749063844 OPA1 Nonsynonymous SNV Y82C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 296793 chr1 228537708 228537708 C T rs774130292 OBSCN Nonsynonymous SNV A6089V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 296794 chr1 22987483 22987483 C T rs746963250 C1QB Synonymous SNV I122I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 296795 chr15 95013583 95013583 C G MCTP2 Synonymous SNV P739P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.82 296796 chr3 25215908 25215908 C T rs370145541 RARB Nonsynonymous SNV A7V 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 296797 chr15 42576171 42576171 G A GANC Nonsynonymous SNV G261R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.909 296798 chr15 45707999 45707999 A C rs746957234 SPATA5L1 Nonsynonymous SNV K620T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 296799 chr1 238090789 238090789 C T rs1009735624 LOC100130331 0 0 0.003 0 0 0 0 1 0 0 0 0 6.608 296800 chr1 240341352 240341352 C T FMN2 Synonymous SNV L638L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 296801 chr9 111938911 111938911 C T rs200882665 EPB41L4B Synonymous SNV A851A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 296802 chr3 42676728 42676728 C T NKTR Nonsynonymous SNV P345S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 296803 chr3 44816777 44816777 C T rs779615762 KIF15 Stop gain R32X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 296804 chr3 46751172 46751172 G T rs941011120 TMIE Nonsynonymous SNV E102D 0.002 0 0 0 2 0 0 0 0 0 0 0 23 296805 chr9 119413949 119413949 C T rs754358411 ASTN2 Nonsynonymous SNV C29Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 296806 chr16 3613197 3613197 G A rs748794511 NLRC3 Nonsynonymous SNV R581C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 7.666 296807 chr16 3900384 3900384 C G rs146887252 CREBBP Nonsynonymous SNV V238L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 16.76 296808 chr1 27226601 27226601 C A GPATCH3 Nonsynonymous SNV L111F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 296809 chr16 4920300 4920300 T C rs371718710 UBN1 Synonymous SNV D423D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.929 296810 chr15 74277002 74277002 G A rs766085387 STOML1 Nonsynonymous SNV T284I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.74 296811 chr15 74325513 74325513 C T rs200123201 PML Nonsynonymous SNV T424M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.65 296812 chr9 130116611 130116611 C T GARNL3 Synonymous SNV L561L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.56 296813 chr9 130206895 130206895 G A rs759297447 ZNF79 Nonsynonymous SNV E172K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 296814 chr15 75113460 75113460 C T rs138585415 LMAN1L Nonsynonymous SNV R318W 0 0.003 0 0 0 1 0 0 0 0 0 0 22 296815 chr3 62153819 62153819 G C PTPRG Nonsynonymous SNV G339R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 296816 chr3 184094035 184094035 C G THPO Nonsynonymous SNV E5Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.16 296817 chr9 130658598 130658598 A G ST6GALNAC6 Nonsynonymous SNV S14P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 296818 chr4 169604205 169604205 C T PALLD Nonsynonymous SNV T22I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 296819 chr3 57614059 57614059 C G rs145204368 DENND6A Nonsynonymous SNV R570P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 296820 chr1 36025973 36025973 G A rs780581013 NCDN Nonsynonymous SNV R57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 296821 chr9 131767989 131767989 C T rs756662679 NUP188 Synonymous SNV S1601S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 296822 chr3 47164891 47164891 C G SETD2 Nonsynonymous SNV G368A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.299 296823 chr1 39878424 39878424 C G rs751134823 KIAA0754 Synonymous SNV P829P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 296824 chr3 48336233 48336233 C T rs138722161 NME6 Nonsynonymous SNV R85H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 296825 chr3 98482222 98482222 C T rs768324868 ST3GAL6 Nonsynonymous SNV T2M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.063 296826 chr3 50137658 50137658 T A RBM5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 296827 chr9 135933233 135933233 G A rs539163950 GTF3C5 Nonsynonymous SNV G302R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 296828 chr4 186392703 186392703 G A rs571038275 LOC105377590 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 296829 chr1 43663229 43663229 G A rs201939738 CFAP57 Synonymous SNV E376E 0 0 0.007 0 0 0 0 2 0 0 0 0 11.15 296830 chr9 139390616 139390616 C T rs375576856 NOTCH1 Synonymous SNV P2525P 0 0 0.003 0 0 0 0 1 0 0 0 0 11 296831 chr3 63967956 63967956 A T ATXN7 Nonsynonymous SNV S138C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 296832 chr9 139910880 139910880 C G rs373765521 ABCA2 Synonymous SNV L989L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.866 296833 chr9 139925933 139925933 G A rs144955598 FUT7 Synonymous SNV A86A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.125 296834 chr4 119273511 119273511 G A rs755655664 PRSS12 Nonsynonymous SNV S122L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.4 296835 chr3 3887146 3887146 C G rs376271760 LRRN1 Nonsynonymous SNV P274R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 296836 chr16 56913045 56913045 G A rs752594293 SLC12A3 Nonsynonymous SNV G414D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.021 296837 chr9 140509382 140509382 - G rs757365279 ARRDC1 Frameshift insertion P392Afs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 296838 chr16 538995 538995 G A rs150937967 RAB11FIP3 Synonymous SNV T110T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 296839 chr16 722522 722522 G A rs142157910 RHOT2 Nonsynonymous SNV A403T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.061 296840 chr9 32630149 32630149 G A rs56342342 TAF1L Nonsynonymous SNV P1810L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 296841 chr4 154279693 154279693 C T rs976469590 MND1 Synonymous SNV I65I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.61 296842 chr9 34662369 34662369 G A rs746707552 CCL27 Stop gain R39X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 296843 chr9 34709498 34709498 T G rs368229543 CCL21 Synonymous SNV R124R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.053 296844 chr9 35259037 35259037 C A UNC13B Synonymous SNV A172A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 296845 chr16 1493983 1493983 G A rs186162819 CCDC154 Nonsynonymous SNV S13L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.92 296846 chr3 47458982 47458982 C T rs545156613 SCAP Nonsynonymous SNV V672I 0.003 0.003 0 0 3 1 0 0 0 0 0 0 3.219 296847 chr1 89435120 89435120 G A rs371504612 KYAT3 Nonsynonymous SNV R10W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296848 chr1 91403314 91403314 A G ZNF644 Nonsynonymous SNV V1139A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 296849 chr4 113356443 113356443 A G rs1043573587 ALPK1 Synonymous SNV E980E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.153 296850 chr4 113539888 113539888 T C rs969418026 ZGRF1 Nonsynonymous SNV N437S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 296851 chr9 77367211 77367211 G A rs750345449 TRPM6 Synonymous SNV Y1655Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.2 296852 chr4 169433082 169433082 C T rs780911413 PALLD Nonsynonymous SNV R143C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 296853 chr20 11249438 11249438 G A rs980411230 LOC339593 0 0 0.003 0 0 0 0 1 0 0 0 0 2.258 296854 chr16 84225205 84225205 C T ADAD2 Synonymous SNV Y123Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.848 296855 chr9 90273042 90273042 G T rs370262598 DAPK1 Synonymous SNV T641T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.636 296856 chr4 1805488 1805488 G A rs373496046 FGFR3 Nonsynonymous SNV A334T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 18.48 296857 chr16 10273975 10273975 G C rs771068226 GRIN2A Synonymous SNV L98L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.148 296858 chr4 184169888 184169888 C T rs765212126 WWC2 Nonsynonymous SNV R252W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 296859 chr9 95796831 95796831 C T rs367812813 FGD3 Synonymous SNV P549P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.997 296860 chr16 88600785 88600785 G C rs567898369 ZFPM1 Nonsynonymous SNV G807R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.38 296861 chrX 109696017 109696017 C T rs751953859 RTL9 Synonymous SNV S724S 0 0 0.007 0 0 0 0 2 0 0 1 0 2.501 296862 chr16 19451438 19451438 G A rs199655687 TMC5 Synonymous SNV T26T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.479 296863 chr16 19725480 19725480 T C rs763735436 KNOP1 Nonsynonymous SNV K293R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.775 296864 chr4 88099704 88099704 T C rs76241124 KLHL8 Nonsynonymous SNV I158V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 296865 chr16 20334225 20334225 C T rs747590251 GP2 Stop gain W57X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 296866 chrX 125955208 125955208 C T rs143596619 PRR32 Nonsynonymous SNV P196L 0 0 0.007 0 0 0 0 2 0 0 1 0 14.83 296867 chrX 135439871 135439871 G A ADGRG4 Synonymous SNV Q2312Q 0 0 0.007 0 0 0 0 2 0 0 1 0 7.114 296868 chr4 187540951 187540951 A G FAT1 Synonymous SNV A2263A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.024 296869 chr20 30358195 30358195 C T rs769867284 TPX2 Nonsynonymous SNV H136Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 296870 chr20 30436655 30436657 TCC - rs773382877 DUSP15 E226del 0 0 0.003 0 0 0 0 1 0 0 0 0 296871 chrX 150349397 150349397 G C rs374023233 GPR50 Nonsynonymous SNV A448P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 296872 chr16 28508224 28508224 C G rs201606814 APOBR Nonsynonymous SNV P621R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.47 296873 chr20 3669832 3669832 C T SIGLEC1 Synonymous SNV V1680V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 296874 chrX 27480677 27480677 G A rs138981902 PPP4R3C Nonsynonymous SNV A246V 0 0 0.01 0 0 0 0 3 0 0 1 0 6.582 296875 chrX 31462631 31462631 C T rs772255929 DMD Synonymous SNV L288L 0 0 0.007 0 0 0 0 2 0 0 1 0 Uncertain significance 12.93 296876 chr20 42333966 42333966 G C MYBL2 Synonymous SNV R467R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 296877 chrX 35985829 35985829 C T rs139917087 CFAP47 Nonsynonymous SNV S565L 0 0 0.007 0 0 0 0 2 0 0 1 0 24.8 296878 chrX 47272416 47272416 A G ZNF157 Nonsynonymous SNV K315R 0 0 0.007 0 0 0 0 2 0 0 1 0 10.84 296879 chr4 42592844 42592844 T C ATP8A1 Nonsynonymous SNV I170V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.9 296880 chr16 31144174 31144174 G T rs184261629 PRSS8 Nonsynonymous SNV H123N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 296881 chr16 31426312 31426312 T C ITGAD Synonymous SNV S762S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.664 296882 chr20 44167975 44167975 G A rs199887245 WFDC6 Synonymous SNV H24H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.639 296883 chr20 44533618 44533618 C T rs56126980 PLTP Nonsynonymous SNV R187Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.4 296884 chrX 73962328 73962328 T C NEXMIF Synonymous SNV G688G 0 0 0.007 0 0 0 0 2 0 0 1 0 0.025 296885 chrX 77528421 77528421 T C CYSLTR1 Nonsynonymous SNV K275E 0 0 0.007 0 0 0 0 2 0 0 1 0 25.1 296886 chr16 57718377 57718377 A G ADGRG3 Nonsynonymous SNV N293S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 296887 chr20 57768386 57768386 G T ZNF831 Nonsynonymous SNV G771V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 296888 chr16 67911744 67911744 G T EDC4 Nonsynonymous SNV S297I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 296889 chr16 69782206 69782206 G A rs749436282 NOB1 Synonymous SNV H251H 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 296890 chr20 60897190 60897190 G A LAMA5 Synonymous SNV H2127H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.521 296891 chr4 76489380 76489380 G A rs148555641 ODAPH Nonsynonymous SNV D42N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.83 296892 chr10 118357339 118357339 G T rs374441219 PNLIPRP1 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 296893 chr4 7666148 7666148 C A rs752177753 SORCS2 Nonsynonymous SNV P341T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.67 296894 chr20 62594780 62594780 T G ZNF512B Nonsynonymous SNV E571A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.038 296895 chr20 8678283 8678283 G A PLCB1 Synonymous SNV L340L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 296896 chr16 84182725 84182725 G A DNAAF1 Nonsynonymous SNV D80N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 296897 chr16 87451294 87451294 G A rs375454012 ZCCHC14 Synonymous SNV H385H 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 296898 chr16 88503007 88503007 C G ZNF469 Synonymous SNV A3043A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.974 296899 chr17 17125892 17125892 G A FLCN Synonymous SNV N234N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.82 296900 chr4 77138781 77138781 C T FAM47E Synonymous SNV C7C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.92 296901 chr21 38334460 38334460 T C rs886057080 HLCS Nonsynonymous SNV D69G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.62 296902 chr10 16994280 16994280 G C rs532968940 CUBN Nonsynonymous SNV P1655R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.13 296903 chr17 19576510 19576510 T A ALDH3A2 Nonsynonymous SNV V497E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 296904 chr16 88876902 88876902 C T rs200392753 APRT Nonsynonymous SNV V84M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 296905 chr4 3415917 3415917 C G rs143650748 RGS12 Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 296906 chr10 25312279 25312279 A C rs137957753 THNSL1 Synonymous SNV R43R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 296907 chr5 160042874 160042874 T G rs779801920 ATP10B Nonsynonymous SNV Q875P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 296908 chr5 11236908 11236908 C T CTNND2 Synonymous SNV L215L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.78 296909 chr21 46355741 46355741 C T rs369806442 LINC01547 0 0 0.003 0 0 0 0 1 0 0 0 0 1.985 296910 chr17 27899356 27899356 C T rs375267344 TP53I13 Nonsynonymous SNV A194V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.721 296911 chr5 176005055 176005055 C T rs753478734 CDHR2 Synonymous SNV G511G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 296912 chr22 21385420 21385420 C G SLC7A4 Nonsynonymous SNV G228R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 296913 chr10 50375042 50375042 G A rs201028683 TMEM273 Nonsynonymous SNV A37V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 296914 chr4 6588894 6588894 G A rs752241083 MAN2B2 Nonsynonymous SNV R188Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.919 296915 chr5 115351065 115351065 - ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTGTCTCACAGA LVRN Stop gain Q857Yfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 296916 chr5 126860426 126860426 G A rs200497223 PRRC1 Nonsynonymous SNV G103S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.008 296917 chr10 70182015 70182015 G A rs931442484 DNA2 Synonymous SNV P888P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.582 296918 chr5 149212400 149212400 C T rs751196436 PPARGC1B Nonsynonymous SNV P216L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.7 296919 chr5 134785515 134785515 C T rs371948648 TIFAB Nonsynonymous SNV G39R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 296920 chr5 135188507 135188507 G A SLC25A48 Nonsynonymous SNV D140N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 296921 chr5 145503552 145503552 G A rs367974584 LARS1 Nonsynonymous SNV S984L 0.002 0 0 0 2 0 0 0 0 0 0 0 27 296922 chr22 36710252 36710252 C T MYH9 Nonsynonymous SNV E498K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 296923 chr17 8111142 8111142 C T rs774168747 AURKB Nonsynonymous SNV S22N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 296924 chr22 37876233 37876233 G A rs201470071 MFNG 0 0 0.003 0 0 0 0 1 0 0 0 0 9.926 296925 chr17 8218397 8218397 G A ARHGEF15 Synonymous SNV Q354Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.281 296926 chr22 38121114 38121114 C T rs532583197 TRIOBP Nonsynonymous SNV R851W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 296927 chr22 38620813 38620813 C T rs754941053 TMEM184B Nonsynonymous SNV D321N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 296928 chr10 90573003 90573003 C G rs772784620 LIPM Nonsynonymous SNV R139G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 296929 chr5 16711041 16711041 G A rs774530951 MYO10 Synonymous SNV S715S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.38 296930 chr17 12618844 12618844 C T rs148520894 MYOCD Nonsynonymous SNV R44C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 296931 chr22 42462796 42462796 A G rs745781088 NAGA Nonsynonymous SNV M172T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 296932 chr17 15341109 15341109 A G rs781426841 CDRT4 Nonsynonymous SNV L147P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.85 296933 chr22 43280466 43280466 C T rs142212309 PACSIN2 Synonymous SNV E196E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 296934 chr5 14711355 14711355 G A rs773377820 ANKH Nonsynonymous SNV P477L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 296935 chr10 98346537 98346537 A G rs904261278 TM9SF3 Nonsynonymous SNV L19P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 296936 chr22 43625174 43625174 C T rs751516631 SCUBE1 Nonsynonymous SNV E330K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 296937 chr17 18044393 18044393 G C MYO15A Nonsynonymous SNV E1823Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 296938 chr17 18881740 18881740 C G rs373890767 FAM83G Synonymous SNV T413T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.75 296939 chr22 50192675 50192675 G A rs200430329 BRD1 Synonymous SNV I539I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 296940 chr5 150914008 150914008 G T FAT2 Nonsynonymous SNV T3130N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 296941 chr17 28748694 28748694 G C rs767772875 CPD Nonsynonymous SNV V137L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.79 296942 chr5 132069983 132069983 G T KIF3A Nonsynonymous SNV T65N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23 296943 chr11 103057151 103057151 C T rs376739267 DYNC2H1 Synonymous SNV L2272L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 296944 chr2 101706723 101706723 T A rs370805963 TBC1D8 Synonymous SNV I77I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 296945 chr17 32955691 32955691 G A rs766676060 TMEM132E Nonsynonymous SNV D370N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 296946 chr17 33585842 33585842 C T rs147085757 SLFN5 Stop gain R45X 0 0.005 0 0 0 2 0 0 0 0 0 0 34 296947 chr11 108032614 108032614 C T rs79119325 NPAT Nonsynonymous SNV D1074N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 296948 chr2 104995582 104995582 C T LOC100287010 0 0 0.003 0 0 0 0 1 0 0 0 0 2.889 296949 chr11 108180917 108180917 T C rs3092910 ATM Synonymous SNV A1931A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.568 296950 chr5 136602702 136602702 G C rs771559184 SPOCK1 Nonsynonymous SNV Q77E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.196 296951 chr17 34171552 34171578 GGCTATGGTGGAGACAGAAGTGGGGGT - TAF15 G421_S429del 0 0.003 0 0 0 1 0 0 0 0 0 0 296952 chr17 34869482 34869482 C T MYO19 Synonymous SNV R269R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 296953 chr17 36623350 36623350 C T rs752560672 ARHGAP23 Nonsynonymous SNV R476W 0 0.005 0 0 0 2 0 0 0 0 0 0 26.5 296954 chr11 111614249 111614249 C T rs144458207 PPP2R1B Nonsynonymous SNV A342T 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 296955 chr17 72576246 72576246 C T rs750645650 CD300LD Synonymous SNV P160P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.1 296956 chr5 178977635 178977635 C T rs543376156 RUFY1 Nonsynonymous SNV P22L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.911 296957 chr17 38033004 38033004 C T rs1032854557 ZPBP2 Nonsynonymous SNV T298I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 296958 chr17 72846060 72846060 G A rs563450892 GRIN2C Nonsynonymous SNV R502W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 296959 chr17 73008825 73008825 G A rs771716388 MRPL58 Nonsynonymous SNV G15E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.04 296960 chr5 177034387 177034387 G A rs140848441 B4GALT7 Synonymous SNV L166L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.14 296961 chr6 111650813 111650813 C A rs148261963 REV3L Nonsynonymous SNV Q2721H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 296962 chr17 38991528 38991528 A G rs746633646 TMEM99 0 0.003 0 0 0 1 0 0 0 0 0 0 0.713 296963 chr17 73836101 73836101 C T rs777818719 UNC13D Nonsynonymous SNV E317K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22 296964 chr5 52243206 52243206 C T rs754207101 ITGA1 Nonsynonymous SNV P1137L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 296965 chr17 74014528 74014528 G A rs767921362 EVPL Nonsynonymous SNV R480W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 296966 chr5 31323347 31323347 G A CDH6 Nonsynonymous SNV D769N 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 296967 chr11 118133324 118133324 C T rs777419748 MPZL2 Nonsynonymous SNV G89R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 296968 chr11 118769687 118769687 C A rs760459717 BCL9L Nonsynonymous SNV V1313L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 296969 chr2 128339472 128339472 C T rs763554687 MYO7B Nonsynonymous SNV H363Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.663 296970 chr2 128914901 128914901 A G UGGT1 Nonsynonymous SNV Y779C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 296971 chr2 131675025 131675025 G A rs56325092 ARHGEF4 Nonsynonymous SNV R1169H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.503 296972 chr5 37205500 37205500 T C rs376901986 CPLANE1 Nonsynonymous SNV Q1069R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 296973 chr5 37875528 37875528 A T GDNF-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 4.949 296974 chr5 38510605 38510605 T C rs112569049 LIFR Nonsynonymous SNV T318A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 296975 chr2 159514754 159514754 C G rs144033132 PKP4 Nonsynonymous SNV S674C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 296976 chr5 42718753 42718753 G T rs754224437 GHR Nonsynonymous SNV G360C 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 296977 chr17 41245776 41245776 A G rs80356859 BRCA1 Nonsynonymous SNV I544T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 296978 chr11 124056340 124056340 C T rs568213379 OR10D3 Nonsynonymous SNV R122C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 296979 chr17 78306196 78306196 T C RNF213 Nonsynonymous SNV I1303T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 296980 chr2 162934133 162934133 G A rs185775739 LOC100131604 0 0 0.01 0 0 0 0 3 0 0 0 0 1.922 296981 chr17 42513893 42513893 T C rs776390788 GPATCH8 Nonsynonymous SNV I47V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 296982 chr17 79495605 79495605 C T rs199668780 FSCN2 Synonymous SNV L16L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 1.933 296983 chr17 43006224 43006224 C T rs369981350 KIF18B Synonymous SNV R574R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.869 296984 chr2 169733753 169733753 T C rs762872188 SPC25 Nonsynonymous SNV K114R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.93 296985 chr11 125776101 125776101 G A rs202234902 DDX25 Nonsynonymous SNV R103Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 296986 chr11 125831724 125831724 C T rs78304400 CDON Nonsynonymous SNV V1176I 0 0 0.01 0 0 0 0 3 0 0 0 0 Benign/Likely benign 0.014 296987 chr5 151784448 151784448 A C rs140814108 NMUR2 Nonsynonymous SNV M76R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.3 296988 chr11 126134339 126134339 C G rs370074270 SRPRA Nonsynonymous SNV V513L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 296989 chr5 60628541 60628543 GGC - ZSWIM6 G154del 0.001 0 0 0 1 0 0 0 0 0 0 0 296990 chr6 153076455 153076455 G A VIP Synonymous SNV L94L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 296991 chr2 17898147 17898147 G A rs752968506 SMC6 Nonsynonymous SNV R403W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 296992 chr6 155054575 155054575 C T rs767860562 SCAF8 Nonsynonymous SNV P7S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.93 296993 chr5 6633060 6633060 C G NSUN2 Nonsynonymous SNV Q11H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 296994 chr2 179464547 179464547 A G TTN Nonsynonymous SNV M9629T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 296995 chr2 179466859 179466859 A G rs72646819 TTN Nonsynonymous SNV I9315T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.48 296996 chr2 179485098 179485098 G C rs727505078 TTN Nonsynonymous SNV L6319V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.53 296997 chr5 94728517 94728517 T C rs760318718 FAM81B Synonymous SNV S48S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 296998 chr17 57334489 57334489 A G GDPD1 Nonsynonymous SNV Q125R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.48 296999 chr17 62019040 62019040 C T rs186181122 SCN4A Synonymous SNV T1534T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.55 297000 chr2 189944727 189944727 C T COL5A2 Nonsynonymous SNV E313K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 297001 chr17 63554324 63554324 T C rs1060502146 AXIN2 Nonsynonymous SNV I139V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.09 297002 chr18 24441242 24441242 G A rs773447772 AQP4 Synonymous SNV T133T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.05 297003 chr11 3249393 3249393 G A rs766954894 MRGPRE Nonsynonymous SNV R213W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 297004 chr18 47101773 47101773 C T rs542306920 LIPG Synonymous SNV A202A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 297005 chr11 3681173 3681173 C T rs760397227 ART1 Nonsynonymous SNV R142W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 297006 chr2 210742763 210742763 C T rs78846221 UNC80 Nonsynonymous SNV T1309I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25.5 297007 chr6 13622605 13622605 A G rs763957474 RANBP9 Nonsynonymous SNV Y727H 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.2 297008 chr6 137466817 137466817 G T rs766157800 IL22RA2 Nonsynonymous SNV P214T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.7 297009 chr5 43535001 43535001 G A rs755767615 PAIP1 Nonsynonymous SNV S384L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 297010 chr11 47609699 47609699 C A FAM180B Nonsynonymous SNV H77N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 297011 chr2 228145671 228145671 C T COL4A3 Nonsynonymous SNV P813S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.855 297012 chr11 4869971 4869971 A C OR51S1 Nonsynonymous SNV I156M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.794 297013 chr2 233399011 233399011 T C rs772140028 CHRND Nonsynonymous SNV F250L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 297014 chr6 125379202 125379202 A G rs142610684 RNF217 Nonsynonymous SNV S411G 0.002 0 0 0 2 0 0 0 0 0 0 0 18.13 297015 chr6 129901230 129901230 T C ARHGAP18 Nonsynonymous SNV I629V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.254 297016 chr2 235950448 235950448 C T rs900312855 SH3BP4 Synonymous SNV H345H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.154 297017 chr11 5410769 5410769 C G rs182074434 OR51M1 Stop gain Y47X 0 0 0.007 0 0 0 0 2 0 0 0 0 27.8 297018 chr18 3187563 3187563 T C MYOM1 Nonsynonymous SNV K282E 0 0.005 0 0 0 2 0 0 0 1 0 0 24.7 297019 chr18 10539849 10539849 G A rs376946681 NAPG Nonsynonymous SNV A117T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 297020 chr6 152419990 152419990 C T rs780952321 ESR1 Synonymous SNV S559S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 297021 chr18 22030746 22030746 G T rs562489492 IMPACT Stop gain E300X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 297022 chr18 22030747 22030747 A C rs531538365 IMPACT Nonsynonymous SNV E300A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 297023 chr18 22030748 22030748 G A rs551650461 IMPACT Synonymous SNV E300E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.22 297024 chr6 74104808 74104808 C T DDX43 Synonymous SNV A60A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 297025 chr2 27803018 27803018 T A rs374123246 C2orf16 Synonymous SNV P1193P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.177 297026 chr6 110679398 110679398 G T METTL24 Synonymous SNV G26G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.9 297027 chr6 159677616 159677616 T C rs779208034 FNDC1 Synonymous SNV A1709A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.463 297028 chr18 59828536 59828536 G C PIGN Synonymous SNV A17A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.2 297029 chr2 74742054 74742054 G A rs763674022 TLX2 Nonsynonymous SNV G41S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.087 297030 chr11 62296898 62296898 C G AHNAK Nonsynonymous SNV G1664A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 297031 chr6 4996524 4996524 C T rs149704012 RPP40 Synonymous SNV T207T 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.45 297032 chr11 62494252 62494252 T C HNRNPUL2 Nonsynonymous SNV D126G 0 0 0.007 0 0 0 0 2 0 0 0 0 16.97 297033 chr2 9618444 9618444 G A rs950192326 IAH1 Synonymous SNV L76L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.65 297034 chr11 64112445 64112445 G A rs758489072 CCDC88B Nonsynonymous SNV R811Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 297035 chr6 41555168 41555168 G A rs758748324 FOXP4 Nonsynonymous SNV A264T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.63 297036 chr19 9868764 9868764 C T rs60387559 ZNF846 Nonsynonymous SNV R201Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 297037 chr6 158870105 158870105 C T rs377032018 TULP4 Synonymous SNV H207H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.39 297038 chr19 1083280 1083280 C T ARHGAP45 Synonymous SNV R596R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.86 297039 chr11 65383887 65383887 C T rs561962666 PCNX3 Synonymous SNV H35H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 297040 chr6 74405943 74405943 A G CD109 Nonsynonymous SNV Q2R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.06 297041 chr19 1455424 1455424 G A rs149886452 APC2 Synonymous SNV E187E 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.08 297042 chr11 65793122 65793122 G A rs753126981 CATSPER1 Synonymous SNV H243H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.21 297043 chr19 11548940 11548940 C T rs771831721 PRKCSH Synonymous SNV T115T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.91 297044 chr3 118945496 118945496 G T rs1031878344 B4GALT4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.308 297045 chr11 66472180 66472180 G C SPTBN2 Nonsynonymous SNV T856S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 297046 chr6 51524673 51524673 G A rs372394177 PKHD1 Synonymous SNV S3417S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.538 297047 chr6 90411625 90411625 G T rs767606792 MDN1 Nonsynonymous SNV D2768E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.18 297048 chr19 3834902 3834902 C T rs200858752 ZFR2 Nonsynonymous SNV V45M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.29 297049 chr7 131099467 131099467 C G MKLN1 Nonsynonymous SNV T75R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 297050 chr6 51523941 51523941 C T rs754613918 PKHD1 Synonymous SNV V3661V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 9.697 297051 chr19 15658974 15658974 C T CYP4F22 Stop gain Q398X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 297052 chr6 26413916 26413916 C T rs146475063 BTN3A1 Nonsynonymous SNV A461V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.22 297053 chr6 27278180 27278180 C T rs958716523 POM121L2 Synonymous SNV T590T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.95 297054 chr6 55039412 55039412 C T HCRTR2 Synonymous SNV S9S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.45 297055 chr11 73686658 73686658 G A rs890856296 UCP2 Synonymous SNV I231I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 297056 chr19 5918585 5918585 G A rs374227785 RANBP3 Synonymous SNV I392I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.86 297057 chr6 56482184 56482184 T C rs368341445 DST Synonymous SNV T2027T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.6 297058 chr6 64394642 64394642 G A rs373163320 PHF3 Nonsynonymous SNV G252E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 297059 chr19 17000553 17000553 G A rs200274536 F2RL3 Synonymous SNV P93P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.865 297060 chr19 7569060 7569060 C A rs771464530 TEX45 Nonsynonymous SNV Q211K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.408 297061 chr3 142756963 142756963 A G rs371989668 U2SURP Synonymous SNV E336E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.177 297062 chr19 18120842 18120842 A G rs138386027 ARRDC2 Synonymous SNV A276A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 297063 chr7 1486454 1486454 A G rs137919202 MICALL2 Nonsynonymous SNV L179S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 297064 chr3 151085515 151085515 G A rs376411623 MED12L Nonsynonymous SNV V1102I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 297065 chr11 9080962 9080962 C T rs776975396 SCUBE2 Synonymous SNV E326E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 297066 chr7 100033994 100033994 T C PPP1R35 Nonsynonymous SNV M2V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 297067 chr3 16302306 16302306 C G rs893228859 DPH3 Nonsynonymous SNV A47P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 297068 chr3 164776976 164776976 G A SI Stop gain Q420X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 297069 chr3 172096100 172096100 G T rs771632625 FNDC3B Nonsynonymous SNV V1017F 0 0 0.007 0 0 0 0 2 0 0 0 0 32 297070 chr3 183956100 183956100 C A rs374687989 VWA5B2 Nonsynonymous SNV P358T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.33 297071 chr12 108641939 108641939 G A rs558906673 WSCD2 Nonsynonymous SNV R506Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 297072 chr12 109537069 109537069 C A rs766218046 UNG Nonsynonymous SNV Q130K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 297073 chr19 10084624 10084624 G A rs368732205 COL5A3 Nonsynonymous SNV R1177W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 297074 chr12 112650378 112650378 C T rs370488175 HECTD4 Synonymous SNV V2524V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.454 297075 chr12 113388544 113388544 T C rs376403103 OAS3 Nonsynonymous SNV V474A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 297076 chr7 2771098 2771098 T C GNA12 Nonsynonymous SNV N212S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 297077 chr12 119942929 119942929 G A rs202056881 CCDC60 Nonsynonymous SNV R235Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 297078 chr7 100887331 100887331 G C rs74430360 FIS1 Nonsynonymous SNV S45R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 297079 chr7 106508505 106508505 A G PIK3CG Nonsynonymous SNV N167D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.15 297080 chr7 103138583 103138583 A G RELN Synonymous SNV Y2928Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 297081 chr7 105209875 105209875 A T rs139862862 EFCAB10 Nonsynonymous SNV S84T 0.003 0 0 0 3 0 0 0 0 0 0 0 5.861 297082 chr7 105254237 105254237 G C rs778724807 ATXN7L1 Nonsynonymous SNV S632R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 297083 chr3 25651079 25651079 T G TOP2B Nonsynonymous SNV K1299T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 297084 chr3 30880488 30880488 C T rs199567192 GADL1 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 297085 chr19 14593720 14593720 G A rs192899612 GIPC1 Synonymous SNV G23G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.13 297086 chr19 14677732 14677732 T C rs2228463 NDUFB7 Synonymous SNV T42T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.671 297087 chr12 124401060 124401060 C T rs370246150 DNAH10 Synonymous SNV Y3475Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 297088 chr19 15053008 15053008 - T rs567235261 OR7C2 Frameshift insertion S238Ffs*31 0 0.003 0 0 0 1 0 0 0 0 0 0 297089 chr19 15338694 15338694 G A rs199770773 EPHX3 Nonsynonymous SNV R249C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 297090 chr12 132335772 132335772 C T MMP17 Synonymous SNV L589L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.225 297091 chr3 42740293 42740293 A G rs201075050 HHATL Synonymous SNV Y130Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 297092 chr12 132683770 132683770 C T rs61745412 GALNT9 Synonymous SNV A116A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 297093 chr7 150918693 150918693 T C ABCF2, LOC114483834 Nonsynonymous SNV M298V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 297094 chr12 14577851 14577851 A G ATF7IP Synonymous SNV S334S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.584 297095 chr3 46450305 46450305 A C CCRL2 Synonymous SNV V257V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.777 297096 chr12 21788512 21788512 G T LDHB Synonymous SNV T323T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.711 297097 chr3 49739830 49739830 G T rs781612959 RNF123 Nonsynonymous SNV G541C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 297098 chr3 51266985 51266985 G A rs201762726 DOCK3 Nonsynonymous SNV R621Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 297099 chr19 47152934 47152934 C T rs952358451 DACT3 Nonsynonymous SNV C7Y 0 0 0 2 0 0 0.005 0 0 0 0 1 0.482 297100 chr7 148768953 148768953 C G ZNF786 Nonsynonymous SNV R304P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 297101 chr19 20728103 20728103 C T rs572242337 ZNF737 Synonymous SNV A302A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.19 297102 chr3 53126524 53126524 C A rs539836470 RFT1 Nonsynonymous SNV G440V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 297103 chr19 20728105 20728105 C T rs566799595 ZNF737 Nonsynonymous SNV A302T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 297104 chr12 42858331 42858331 A C rs768870075 PRICKLE1 Nonsynonymous SNV L502R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 297105 chr3 56627632 56627632 C G CCDC66 Synonymous SNV V361V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 297106 chr3 56653422 56653422 A G CCDC66 Synonymous SNV T801T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.05 297107 chr7 100807230 100807230 G T rs116131136 VGF Nonsynonymous SNV Q299K 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.3 297108 chr3 63985174 63985174 C T rs769269406 ATXN7 Nonsynonymous SNV A926V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 297109 chr7 150749527 150749527 C A ASIC3 Synonymous SNV R495R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 297110 chr7 105636780 105636780 C T rs572514563 CDHR3 Synonymous SNV D143D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.22 297111 chr12 49936578 49936578 G A rs769186310 KCNH3 Nonsynonymous SNV G119R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 297112 chr7 110526713 110526713 C A rs757761642 IMMP2L Nonsynonymous SNV R115L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.4 297113 chr7 1028028 1028028 G A rs772261904 CYP2W1 Nonsynonymous SNV R420Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.38 297114 chr12 51203333 51203333 G A rs369352834 ATF1 Nonsynonymous SNV V97I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 297115 chr19 49967912 49967912 C T rs200873076 ALDH16A1 Synonymous SNV P436P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.36 297116 chr19 50794168 50794168 G A MYH14 Nonsynonymous SNV D1623N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 297117 chr8 100789125 100789125 C G rs773594659 VPS13B Nonsynonymous SNV S2482C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 297118 chr4 106196798 106196798 A G TET2 Nonsynonymous SNV I1711V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 297119 chr19 51628275 51628275 C A rs759377738 SIGLEC9 Nonsynonymous SNV A15E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.083 297120 chr4 113540617 113540617 G A rs951984574 ZGRF1 Nonsynonymous SNV S194L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 297121 chr12 56088716 56088716 C T ITGA7 Nonsynonymous SNV G233E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 297122 chr12 57112698 57112698 A G NACA Synonymous SNV P872P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 297123 chr12 57390113 57390113 - C rs777895811 GPR182 Frameshift insertion H376Pfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 297124 chr19 44116344 44116344 C T rs538676286 SRRM5 Nonsynonymous SNV A24V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 297125 chr12 58124600 58124600 C T AGAP2 Nonsynonymous SNV S761N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 297126 chr7 44102459 44102459 C G PGAM2 Nonsynonymous SNV K222N 0.003 0 0 0 3 0 0 0 0 0 0 0 10.34 297127 chr4 148575572 148575572 C T rs528315267 PRMT9 Synonymous SNV S187S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 297128 chr12 6464532 6464532 C T rs534158738 SCNN1A Nonsynonymous SNV R409Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 297129 chr4 15004558 15004558 G A CPEB2 Synonymous SNV L87L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.193 297130 chr12 64784324 64784324 C G rs529001289 C12orf56 Nonsynonymous SNV G8R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 297131 chr12 6638759 6638759 G A rs61731148 NCAPD2 Nonsynonymous SNV R1218Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 297132 chr7 86990828 86990828 A G rs758831385 CROT Synonymous SNV Q121Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.495 297133 chr19 45570730 45570730 C T CLASRP Synonymous SNV S453S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 297134 chr8 141294038 141294038 C A rs199623517 TRAPPC9 Synonymous SNV V679V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 297135 chr19 45848832 45848832 A G rs961578178 KLC3 Synonymous SNV A11A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.126 297136 chr12 7091064 7091064 G A rs782721760 LPCAT3 Nonsynonymous SNV A123V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.156 297137 chr4 15994002 15994002 T G rs200507858 PROM1 Nonsynonymous SNV I585L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.016 297138 chr4 16026841 16026841 G C rs140872693 PROM1 Nonsynonymous SNV R193G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.16 297139 chr12 7273175 7273175 G A rs954750123 C1RL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.737 297140 chr19 47424184 47424184 T C ARHGAP35 Nonsynonymous SNV I751T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 297141 chr7 64453380 64453380 T C rs775189384 ERV3-1 Nonsynonymous SNV I9V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.753 297142 chr12 95869945 95869945 G A rs201661818 METAP2 Nonsynonymous SNV D84N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 297143 chr4 187518087 187518087 G A FAT1 Nonsynonymous SNV R4203C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 297144 chr4 2341222 2341222 G A rs760996325 ZFYVE28 Nonsynonymous SNV A113V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 297145 chr7 82585466 82585466 G T PCLO Synonymous SNV G1601G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 297146 chr4 26490969 26490969 C A rs76530633 CCKAR Nonsynonymous SNV A84S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 297147 chr7 91630565 91630565 T C rs147302252 AKAP9 Nonsynonymous SNV I445T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 297148 chr19 50098427 50098427 G C PRR12 Nonsynonymous SNV E279Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 297149 chr8 125498562 125498562 G C rs776655219 RNF139 Nonsynonymous SNV L224F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 17.75 297150 chr19 50666034 50666034 T C IZUMO2 Nonsynonymous SNV K90R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.271 297151 chr7 92763766 92763766 C A SAMD9L Stop gain E507X 0.003 0 0 0 3 0 0 0 0 0 0 0 35 297152 chr8 22476515 22476515 G A CCAR2 Synonymous SNV L835L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 297153 chr4 41652521 41652521 G A rs147874816 LIMCH1 Nonsynonymous SNV E427K 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 297154 chr7 98955969 98955969 G T ARPC1A Synonymous SNV S226S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.691 297155 chr4 4249340 4249340 C T TMEM128 Nonsynonymous SNV G5R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 297156 chr4 4322915 4322915 G A rs145779018 ZBTB49 Nonsynonymous SNV G724S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.391 297157 chr7 99771533 99771533 G C GPC2 Nonsynonymous SNV Q273E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.64 297158 chr8 27880851 27880851 G C rs189541232 NUGGC Nonsynonymous SNV P792A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.206 297159 chr19 53085648 53085648 C T rs773147042 ZNF701 Synonymous SNV L112L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.078 297160 chr8 38853894 38853894 C G rs142205234 TM2D2 Nonsynonymous SNV G22A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 297161 chr4 76517107 76517107 G A rs1054286246 CDKL2 Stop gain R515X 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 297162 chr8 133078137 133078137 C T rs372608451 HHLA1 Synonymous SNV S516S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.279 297163 chr13 52542667 52542667 G A rs145798966 ATP7B Synonymous SNV L540L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.571 297164 chr8 126079913 126079913 A T rs376137431 WASHC5 Nonsynonymous SNV L252Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 297165 chr8 145655819 145655819 C T rs374503291 TONSL Nonsynonymous SNV R1304Q 0.003 0.003 0 0 3 1 0 0 0 0 0 0 16.06 297166 chr4 81123737 81123737 C G PRDM8 Nonsynonymous SNV P374R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 297167 chr13 77724965 77724965 G A rs144590133 MYCBP2 Synonymous SNV D2345D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.086 297168 chr7 64438781 64438781 T C rs776538878 ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV K390E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.122 297169 chr4 84243433 84243433 G A rs781242807 HPSE Synonymous SNV F104F 0 0 0.007 0 0 0 0 2 0 0 0 0 13.57 297170 chr7 75184826 75184826 T C rs782716147 HIP1 Synonymous SNV Q619Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.043 297171 chr4 86898773 86898773 A C ARHGAP24 Nonsynonymous SNV Q93P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 297172 chr8 144732198 144732198 C T rs755111071 ZNF623 Synonymous SNV H52H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 297173 chr8 92998419 92998419 T G rs771662212 RUNX1T1 Nonsynonymous SNV K367N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 297174 chr7 82582401 82582401 A C rs776949129 PCLO Nonsynonymous SNV V2623G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 4.023 297175 chr8 95952328 95952328 T C rs552008569 TP53INP1 Nonsynonymous SNV D78G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 297176 chr8 144991035 144991035 G A rs200622009 PLEC Synonymous SNV T4304T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.129 297177 chr9 100093017 100093017 C G rs779008351 CCDC180 Nonsynonymous SNV Q792E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.877 297178 chr14 105407762 105407762 C G rs759568101 AHNAK2 Nonsynonymous SNV D4576H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 297179 chr20 46264231 46264231 G A NCOA3 Synonymous SNV G426G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.427 297180 chr19 56733002 56733002 C T ZSCAN5A Nonsynonymous SNV S361N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.164 297181 chr7 91726258 91726258 A G AKAP9 Nonsynonymous SNV S3329G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.002 297182 chr5 112214531 112214531 C T rs553914342 REEP5 Synonymous SNV A174A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 297183 chr8 145618272 145618272 C A rs781836012 ADCK5 Nonsynonymous SNV Q576K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 297184 chr8 145640687 145640687 G A rs200819089 SLC39A4 Synonymous SNV H172H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.513 297185 chr8 38124886 38124886 C T rs772090931 PLPP5 Nonsynonymous SNV R121H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 34 297186 chr20 3268311 3268311 C T rs200336768 C20orf194 Nonsynonymous SNV R818H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 297187 chr8 1998981 1998981 C G MYOM2 Stop gain S34X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297188 chr5 140237865 140237865 G C rs782403060 PCDHA10 Synonymous SNV G744G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.329 297189 chr8 22053013 22053013 G A rs373433474 BMP1 Nonsynonymous SNV E560K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.2 297190 chr21 32617951 32617951 G A rs781690152 TIAM1 Synonymous SNV S479S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.61 297191 chr14 51390736 51390736 T C rs34096980 PYGL Nonsynonymous SNV Y170C 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 297192 chr8 2886880 2886880 C T CSMD1 Nonsynonymous SNV G2606R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 297193 chr8 38975683 38975683 A C ADAM32 Nonsynonymous SNV Y46S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.052 297194 chr8 37692774 37692774 G A rs367822457 ADGRA2 Nonsynonymous SNV R564K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.1 297195 chr5 153175145 153175145 A G GRIA1 Nonsynonymous SNV S794G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 297196 chr8 52322112 52322112 T C rs764299807 PXDNL Nonsynonymous SNV Y691C 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 297197 chr8 6673357 6673357 A G rs201713069 XKR5 Nonsynonymous SNV I297T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.143 297198 chr5 157002 157002 G A rs370245537 PLEKHG4B Synonymous SNV A821A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.41 297199 chr9 135864561 135864561 G A rs140900853 GFI1B Synonymous SNV E208E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.303 297200 chr5 167517765 167517765 G T TENM2 Nonsynonymous SNV V336F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 297201 chr14 75537738 75537738 G A rs756702328 ZC2HC1C Synonymous SNV E154E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 297202 chr5 176005418 176005418 G A rs34485432 CDHR2 Nonsynonymous SNV G543S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.777 297203 chr20 46256695 46256695 C T rs773805737 NCOA3 Nonsynonymous SNV R251C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 297204 chr21 47831621 47831621 C G rs61735811 PCNT Nonsynonymous SNV D1760E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 297205 chr20 48124554 48124554 G A rs201918056 PTGIS Nonsynonymous SNV A469V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.7 297206 chr9 139371350 139371350 C T rs771055105 SEC16A Nonsynonymous SNV G240R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.074 297207 chr5 180219834 180219834 G A rs556651842 MGAT1 Synonymous SNV D46D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 297208 chr5 180219838 180219838 C T rs61743256 MGAT1 Nonsynonymous SNV G45D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 297209 chr9 100326389 100326389 C T rs373349313 TMOD1 Nonsynonymous SNV T186M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 297210 chr20 57576649 57576649 C T rs748865550 CTSZ Nonsynonymous SNV V120M 0 0.003 0 0 0 1 0 0 0 0 0 0 26 297211 chr9 107646756 107646756 G A rs145183203 ABCA1 Nonsynonymous SNV P85L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 32 297212 chr9 15744465 15744465 G C CCDC171 Nonsynonymous SNV L756F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 297213 chr15 25961928 25961928 G A rs751285627 ATP10A Synonymous SNV L575L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.387 297214 chr5 41313800 41313800 G A rs756509615 PLCXD3 Synonymous SNV A295A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 297215 chr15 31619475 31619475 C T KLF13 Synonymous SNV S20S 0 0 0.01 0 0 0 0 3 0 0 0 0 12.65 297216 chr9 132665249 132665249 G C rs540509107 FNBP1 Nonsynonymous SNV L414V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.14 297217 chr9 35076725 35076725 A G rs774982952 FANCG Nonsynonymous SNV V307A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 297218 chr15 40501924 40501924 T C rs760039821 BUB1B Synonymous SNV C744C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 297219 chr22 31059504 31059504 T C rs147361219 DUSP18 Nonsynonymous SNV T163A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.67 297220 chr8 28906861 28906861 G A HMBOX1 Nonsynonymous SNV G394S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 297221 chr5 66460177 66460177 C G rs369435906 MAST4 Nonsynonymous SNV R1463G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 297222 chr5 67494125 67494125 A G rs189232285 LINC02219 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 297223 chr9 72131538 72131538 C A rs780799579 APBA1 Nonsynonymous SNV V197L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 297224 chr9 135271868 135271868 A T TTF1 Nonsynonymous SNV I88K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.62 297225 chr8 30694326 30694326 C T rs146619272 TEX15 Stop gain W3158X 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 41 297226 chr5 72424309 72424309 C T TMEM171 Synonymous SNV L245L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.881 297227 chr8 37730218 37730218 C T rs777786700 RAB11FIP1 Nonsynonymous SNV R701Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.704 297228 chr15 43020878 43020878 C T rs200401359 CDAN1 Nonsynonymous SNV G926R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 297229 chr5 74400783 74400783 G A rs181179046 ANKRD31 Nonsynonymous SNV P1477L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 297230 chr5 74442036 74442036 T G ANKRD31 Nonsynonymous SNV Y1067S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.285 297231 chr5 74442077 74442077 A C ANKRD31 Nonsynonymous SNV I1053M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 297232 chr5 74491840 74491840 C A rs368040525 ANKRD31 Nonsynonymous SNV K211N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.013 297233 chr21 34927468 34927468 C G rs150856507 SON Synonymous SNV R1977R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.37 297234 chr9 126129461 126129461 C T rs138090939 CRB2 Synonymous SNV G255G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.16 297235 chr9 126776410 126776410 C T rs144291200 LHX2 Synonymous SNV D97D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.76 297236 chr5 79028174 79028174 G C rs369192160 CMYA5 Nonsynonymous SNV D1196H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 297237 chr21 38084888 38084888 C G SIM2 Nonsynonymous SNV S105C 0 0.003 0 0 0 1 0 0 0 0 0 0 28 297238 chr9 89560767 89560767 G A rs556261075 GAS1 Nonsynonymous SNV P310S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 297239 chr21 38497010 38497010 G A rs151026583 TTC3 Nonsynonymous SNV E91K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.661 297240 chr15 53081355 53081355 G C rs923520108 ONECUT1 Nonsynonymous SNV P243A 0 0 0.007 0 0 0 0 2 0 0 0 0 3.156 297241 chr9 130495688 130495688 C T rs372814464 TOR2A Nonsynonymous SNV R28H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 297242 chr8 70476279 70476279 G A rs201650068 SULF1 Synonymous SNV S23S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.22 297243 chr5 9066758 9066758 C T SEMA5A Nonsynonymous SNV E692K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 297244 chr8 70536309 70536309 G A rs758690728 SULF1 Nonsynonymous SNV R576H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 297245 chr9 98238380 98238380 T C rs181192122 PTCH1 Nonsynonymous SNV N503S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 297246 chr9 98268856 98268856 G T PTCH1 Nonsynonymous SNV P76Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 297247 chr15 64792007 64792007 A G rs756586641 ZNF609 Nonsynonymous SNV N130S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 297248 chr6 107392066 107392066 T C rs140475369 BEND3 Nonsynonymous SNV N110S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 297249 chr9 135982050 135982050 G A rs61739697 RALGDS Nonsynonymous SNV T445M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 297250 chr21 46930062 46930062 C T rs572048525 COL18A1 Nonsynonymous SNV R1371W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 297251 chr9 19328083 19328083 A G rs373619857 DENND4C Nonsynonymous SNV K726E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.95 297252 chr15 74315715 74315715 G A rs556426526 PML Synonymous SNV L383L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 297253 chr15 75132954 75132954 C T rs375863086 ULK3 Synonymous SNV P166P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 297254 chrX 110987999 110987999 - CCT ALG13 P945_A946insP 0.001 0 0 0 1 0 0 0 0 0 0 0 297255 chr9 139730196 139730196 G A RABL6 Synonymous SNV R237R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 297256 chr9 139743890 139743890 T C rs75735760 PHPT1 Nonsynonymous SNV V3A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.023 297257 chrX 19368071 19368071 G A rs144967854 PDHA1 Nonsynonymous SNV R45Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 297258 chr9 139753735 139753735 T C rs61741097 MAMDC4 Synonymous SNV A1053A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.417 297259 chr9 139840387 139840387 G A C8G Synonymous SNV G94G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.625 297260 chr9 139849847 139849847 G C rs115310708 LCN12 Nonsynonymous SNV C192S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 297261 chr15 85360303 85360303 G A rs758170095 ALPK3 Nonsynonymous SNV G76S 0 0 0.007 0 0 0 0 2 0 0 0 0 23 297262 chr9 139890195 139890195 C T rs76917530 CLIC3 Synonymous SNV G16G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.88 297263 chr6 144508593 144508593 A G rs9496891 STX11 Nonsynonymous SNV T277A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.38 297264 chr6 149795455 149795455 C G rs754384750 ZC3H12D Synonymous SNV G75G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.391 297265 chr9 16419070 16419070 T C rs770750456 BNC2 Nonsynonymous SNV M978V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.061 297266 chrX 40572251 40572251 G T rs142748022 MED14 Synonymous SNV A232A 0.002 0 0.01 0 2 0 0 3 1 0 1 0 11.19 297267 chrX 41203593 41203593 C T rs374463509 DDX3X Synonymous SNV A306A 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 13.35 297268 chr9 19094364 19094364 C T rs142532991 HAUS6 Nonsynonymous SNV S85N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.97 297269 chr15 91420169 91420169 C T rs138939644 FURIN Nonsynonymous SNV A139V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 297270 chrX 69458190 69458190 C T rs138506101 AWAT1 Nonsynonymous SNV L197F 0.002 0 0 0 2 0 0 0 1 0 0 0 26 297271 chr9 95227217 95227217 C A ASPN Synonymous SNV L231L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.22 297272 chr9 33971702 33971702 C A UBAP2 Nonsynonymous SNV G171V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 297273 chr16 10998642 10998642 G A rs148597952 CIITA Nonsynonymous SNV V278I 0 0 0.007 0 0 0 0 2 0 0 0 0 1.232 297274 chrX 86071102 86071102 G T DACH2 Stop gain G417X 0.002 0 0 0 2 0 0 0 1 0 0 0 41 297275 chrX 110644494 110644494 A G rs761104151 DCX Synonymous SNV N224N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.334 297276 chr22 36142554 36142554 C T rs760198924 RBFOX2 Nonsynonymous SNV A331T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 297277 chr6 165752812 165752812 A C rs148138380 PDE10A Nonsynonymous SNV I711M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 297278 chr22 37903883 37903883 C T rs61746683 CARD10 Nonsynonymous SNV A382T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.1 297279 chr9 131355292 131355292 A T rs372807389 SPTAN1 Synonymous SNV V1062V 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 Benign 7.316 297280 chr6 167728728 167728728 C T rs142367645 UNC93A Nonsynonymous SNV R346C 0 0 0.003 0 0 0 0 1 0 0 0 0 29 297281 chrX 135496330 135496330 C T rs200523694 ADGRG4 Nonsynonymous SNV R3017W 0.002 0 0 1 2 0 0.003 0 1 0 0 0 15.42 297282 chr10 106130795 106130795 T C rs767474108 CFAP58 Nonsynonymous SNV I358T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 297283 chr6 24578421 24578421 G A rs145591060 KIAA0319 Synonymous SNV N429N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.283 297284 chr16 20384163 20384163 A G rs144974423 PDILT Synonymous SNV I293I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.704 297285 chr16 20976479 20976479 C A rs760518933 DNAH3 Nonsynonymous SNV R2863S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.096 297286 chr9 95609189 95609189 T A ZNF484 Nonsynonymous SNV Q591L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 297287 chr16 22926484 22926484 C T rs199761070 HS3ST2 Synonymous SNV N235N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 297288 chr9 96051661 96051661 T G rs767683269 WNK2 Nonsynonymous SNV V1542G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 297289 chr10 121662334 121662334 G A rs373510596 SEC23IP Synonymous SNV P240P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.199 297290 chr10 123241686 123241686 T C rs189179463 FGFR2 X770W 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 18.86 297291 chr10 123353298 123353298 C T rs143978938 FGFR2 Nonsynonymous SNV V12M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 16.34 297292 chr1 1877810 1877810 T A CFAP74 Synonymous SNV P770P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.43 297293 chr9 140147905 140147905 C T STPG3 Nonsynonymous SNV P384L 0.003 0 0 0 3 0 0 0 0 0 0 0 0.087 297294 chr16 4516255 4516255 A G rs370842993 NMRAL1 Nonsynonymous SNV I143T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 297295 chr1 11847936 11847936 G A rs116013353 C1orf167 Nonsynonymous SNV R1227K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 297296 chrX 23411583 23411583 G A PTCHD1 Nonsynonymous SNV V650M 0 0.005 0 0 0 2 0 0 0 1 0 0 23.2 297297 chr16 4943273 4943273 G C rs779503542 PPL Nonsynonymous SNV P531A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 297298 chr16 50745820 50745820 C T rs374171106 NOD2 Synonymous SNV A639A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.275 297299 chr16 5075514 5075514 G T rs200663126 NAGPA Nonsynonymous SNV Q505K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 297300 chrX 30260971 30260971 A G MAGEB4 Nonsynonymous SNV E240G 0.003 0.003 0 0 4 1 0 0 1 0 0 0 23 297301 chrX 49846429 49846429 C T CLCN5 Synonymous SNV H216H 0 0.005 0 0 0 2 0 0 0 1 0 0 15.5 297302 chr1 16261894 16261894 C T rs753548343 SPEN Synonymous SNV N3053N 0 0 0 1 0 0 0.003 0 0 0 0 0 6.342 297303 chrX 51150051 51150051 C T rs782142139 EZHIP Synonymous SNV S61S 0.003 0 0 0 3 0 0 0 1 0 0 0 7.881 297304 chrX 54099537 54099537 T C rs781898200 FAM120C Nonsynonymous SNV M1074V 0.003 0 0 0 3 0 0 0 1 0 0 0 0.001 297305 chr10 131641576 131641576 G A rs185516749 MIR4297 0.002 0 0 0 2 0 0 0 0 0 0 0 2.124 297306 chr6 56483144 56483144 G C DST Synonymous SNV S1896S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 297307 chr10 121212264 121212264 G A rs200119606 GRK5 Nonsynonymous SNV D496N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 297308 chr16 66514686 66514686 T C rs1017949346 BEAN1 Nonsynonymous SNV L104P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 297309 chr16 68395602 68395602 C T rs780882838 SMPD3 Synonymous SNV S590S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.81 297310 chr10 126136518 126136518 G A NKX1-2 Nonsynonymous SNV P138L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.53 297311 chr6 90572780 90572780 T C rs202104748 CASP8AP2 Nonsynonymous SNV V451A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.158 297312 chr6 96651152 96651152 A T FUT9 Nonsynonymous SNV M41L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 297313 chr10 103343423 103343423 G T rs142726673 POLL Nonsynonymous SNV P28T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 297314 chr6 96969827 96969827 G A UFL1 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 297315 chr9 842032 842032 C T rs564444409 DMRT1 Nonsynonymous SNV A65V 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.73 297316 chr16 75203389 75203389 A G ZFP1 Synonymous SNV A94A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.389 297317 chr10 105363481 105363481 G A SH3PXD2A Synonymous SNV P379P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.27 297318 chr9 94486381 94486381 G A rs141235720 ROR2 Nonsynonymous SNV P799S 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.12 297319 chr9 990876 990876 G A rs369884717 DMRT3 Synonymous SNV T430T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.919 297320 chrX 154182204 154182204 A G rs1800290 F8 Synonymous SNV L622L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.029 297321 chr10 25313131 25313131 A G THNSL1 Nonsynonymous SNV I327V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 297322 chr16 87723461 87723461 G A rs753758778 JPH3 Nonsynonymous SNV A499T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 297323 chrX 12735177 12735177 A G rs144170600 FRMPD4 Nonsynonymous SNV N827D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.004 297324 chr10 32310022 32310022 G T KIF5B Nonsynonymous SNV T711N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 297325 chr1 1684347 1684347 - CCTCCTCCTCCT NADK E413_G414insEEEE 0.002 0 0 0 2 0 0 0 0 0 0 0 297326 chr7 103197460 103197460 C T rs373070497 RELN Nonsynonymous SNV A1921T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 297327 chr7 103969659 103969659 G T rs368994276 LHFPL3 Nonsynonymous SNV M144I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 297328 chr7 107323901 107323901 C T rs144691257 SLC26A4 Nonsynonymous SNV T307M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 297329 chr1 3397098 3397098 G A rs148938641 ARHGEF16 Nonsynonymous SNV V693M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 297330 chr10 54531345 54531345 C T rs56412725 MBL2 Synonymous SNV A17A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 297331 chr16 89951028 89951028 A C rs772673723 TCF25 Nonsynonymous SNV K131N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 297332 chr7 116595061 116595061 A G ST7-OT4 0 0 0.003 0 0 0 0 1 0 0 0 0 3.676 297333 chr16 90106572 90106572 C A URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 3.003 297334 chr7 121678920 121678920 A G PTPRZ1 Nonsynonymous SNV T960A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 297335 chr7 123302749 123302749 A G LMOD2 Nonsynonymous SNV D370G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.682 297336 chrX 17768189 17768189 G A SCML1 Nonsynonymous SNV C39Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 297337 chrX 18915374 18915374 C A rs775954610 PHKA2 Synonymous SNV R1063R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.861 297338 chr1 53332236 53332236 A T ZYG11A Nonsynonymous SNV D121V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 297339 chr7 138579154 138579154 T C KIAA1549 Synonymous SNV K1322K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.486 297340 chrX 37670138 37670138 G C rs766756667 CYBB Nonsynonymous SNV V561L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 297341 chrX 38031223 38031223 T C rs747497770 SRPX Nonsynonymous SNV Y126C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 297342 chr10 98744181 98744181 G T LCOR Nonsynonymous SNV A1322S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 297343 chr10 71166863 71166863 G A rs985773212 TACR2 Synonymous SNV I305I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 297344 chr7 142609851 142609851 C T TRPV5 Nonsynonymous SNV A529T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 297345 chr1 16069543 16069543 C T rs371995832 TMEM82 Nonsynonymous SNV R64W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 297346 chr1 16462219 16462219 G A rs55740291 EPHA2 Synonymous SNV S399S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.7 297347 chr7 148638650 148638650 T C rs371867344 RNY5 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 297348 chr17 26634314 26634314 G T rs112296497 KRT18P55 0 0 0.007 0 0 0 0 2 0 0 1 0 1.664 297349 chr7 149510831 149510831 C T rs367809557 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 297350 chr17 27044622 27044622 G C rs893650749 RAB34 Synonymous SNV R35R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 297351 chr7 150035721 150035721 C T rs138967698 RARRES2 Nonsynonymous SNV R162H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 297352 chr7 150390270 150390270 G C rs144296900 GIMAP2 Nonsynonymous SNV C299S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 297353 chr7 150434679 150434679 C T rs79239469 GIMAP1-GIMAP5 Synonymous SNV P35P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.202 297354 chr10 81706256 81706256 C T SFTPD Nonsynonymous SNV D54N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 297355 chr7 155255268 155255268 C T rs145531356 EN2 Synonymous SNV R296R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 297356 chr7 21598500 21598500 A G rs72655972 DNAH11 Nonsynonymous SNV I192M 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23.1 297357 chr17 36614365 36614365 A G ARHGAP23 Nonsynonymous SNV D28G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 297358 chr7 29332542 29332542 C G CHN2 Synonymous SNV V17V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.189 297359 chr10 72505057 72505057 G T rs372121931 ADAMTS14 Nonsynonymous SNV R753L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.092 297360 chr11 113631637 113631637 G A rs140270550 ZW10 Nonsynonymous SNV R82C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 297361 chr1 15695919 15695919 C G FHAD1 Nonsynonymous SNV P1101R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.421 297362 chr1 35454075 35454075 C T ZMYM6 Nonsynonymous SNV G870R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 297363 chr1 16342220 16342220 G A rs199601455 HSPB7 Nonsynonymous SNV A127V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 297364 chr1 37945854 37945854 C G rs769748636 MIR6732 0.002 0 0 0 2 0 0 0 0 0 0 0 5.514 297365 chr1 38095330 38095330 G T rs570832869 RSPO1 Synonymous SNV R2R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 297366 chr11 119003902 119003902 A G rs748073575 HINFP Nonsynonymous SNV K165R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 297367 chr17 40342731 40342731 T C rs753435198 GHDC Nonsynonymous SNV D400G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 297368 chr1 19566862 19566862 C G EMC1 Nonsynonymous SNV D217H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 297369 chr10 83635357 83635357 A G rs370327916 NRG3 Synonymous SNV K87K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.213 297370 chr17 45993950 45993950 G A rs150012782 SP2 Synonymous SNV P171P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.15 297371 chr10 94390049 94390049 A C KIF11 Nonsynonymous SNV Q474H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 297372 chr10 97192259 97192259 G A rs368239052 SORBS1 Nonsynonymous SNV P51S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.4 297373 chr1 24447888 24447888 C T rs747920317 IL22RA1 Nonsynonymous SNV A378T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 297374 chr1 48821380 48821380 C T SPATA6 Nonsynonymous SNV V372I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 297375 chr7 72985184 72985184 C T rs147744802 TBL2 Nonsynonymous SNV A168T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.741 297376 chr7 73255508 73255508 G A METTL27 Synonymous SNV Y48Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 297377 chr10 24831810 24831810 A T KIAA1217 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 297378 chr17 4936855 4936855 C T rs9897165 SLC52A1 Nonsynonymous SNV R310H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.1 297379 chr7 77378963 77378963 A G rs768192395 RSBN1L Nonsynonymous SNV D309G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.1 297380 chr7 77569399 77569399 C G rs754729211 PHTF2 Nonsynonymous SNV S396C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 297381 chr17 56435358 56435358 A G RNF43 Synonymous SNV S466S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.084 297382 chr11 116729017 116729034 TGCTGCTGCTGCCGTTGT - SIK3 R943_Q948del 0.002 0 0 0 2 0 0 0 0 0 0 0 297383 chr11 117782492 117782492 C T TMPRSS13 Nonsynonymous SNV S263N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 297384 chr1 64732856 64732856 A G rs757344109 UBE2U Nonsynonymous SNV T261A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 297385 chr10 46121542 46121542 T A rs139565989 ZFAND4 Nonsynonymous SNV T577S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.049 297386 chr1 75684979 75684979 C T rs146910557 SLC44A5 Nonsynonymous SNV G404E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 297387 chr10 50532116 50532116 G A rs775875033 C10orf71 Nonsynonymous SNV R509H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 297388 chr1 52704684 52704684 G C ZFYVE9 Nonsynonymous SNV G532A 0.001 0.005 0 1 1 2 0.003 0 0 0 0 0 19.68 297389 chr11 108382004 108382004 A G rs369244769 EXPH5 Synonymous SNV S1222S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.233 297390 chr8 124664836 124664836 C T rs201098575 KLHL38 Nonsynonymous SNV A111T 0 0 0.007 0 0 0 0 2 0 0 0 0 29.6 297391 chr8 124665161 124665161 G A rs375305899 KLHL38 Synonymous SNV D2D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 297392 chr1 94564410 94564410 G A ABCA4 Synonymous SNV T236T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 297393 chr8 125565266 125565266 C T rs773369767 MTSS1 Synonymous SNV T680T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 10.99 297394 chr1 95657191 95657191 G A rs995809602 TLCD4 Nonsynonymous SNV V187M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 297395 chr8 12879091 12879091 A G rs370836865 TRMT9B Synonymous SNV S175S 0 0 0.007 0 0 0 0 2 0 0 0 0 1.017 297396 chr10 71018696 71018696 T G rs775085562 HKDC1 Nonsynonymous SNV L733V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.712 297397 chr1 107599828 107599828 A G rs754362841 PRMT6 Nonsynonymous SNV E164G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 297398 chr17 73998425 73998425 T G rs142329959 CDK3 Nonsynonymous SNV L138V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 297399 chr17 74084872 74084872 C G EXOC7 Nonsynonymous SNV E353Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 297400 chr1 179983590 179983590 A G rs773883894 CEP350 Nonsynonymous SNV K668E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 297401 chr17 75401188 75401188 A G rs1054875515 SEPTIN9 Synonymous SNV G5G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.32 297402 chr11 47185738 47185738 C T rs138907990 C11orf49 Synonymous SNV L306L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 297403 chr1 120437197 120437197 C A ADAM30 Nonsynonymous SNV G588V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 297404 chr17 78321987 78321987 G A rs111406243 RNF213 Synonymous SNV S3284S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.087 297405 chr1 149878329 149878329 G A rs73006309 SV2A Synonymous SNV D38D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.1 297406 chr10 94821917 94821917 C G rs759560256 CYP26C1 Nonsynonymous SNV Q119E 0 0 0 1 0 0 0.003 0 0 0 0 0 14.73 297407 chr1 151400447 151400447 T C rs115103475 POGZ Synonymous SNV T215T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.19 297408 chr1 151502978 151502978 A G rs147239558 CGN Nonsynonymous SNV Q776R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 297409 chr1 151505035 151505035 G A rs115631509 CGN Nonsynonymous SNV R910Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 297410 chr17 79941465 79941465 G A ASPSCR1 Stop gain W65X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 297411 chr1 151774950 151774950 C T rs139571478 LINGO4 Synonymous SNV Q77Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.321 297412 chr1 152659392 152659392 C T rs61730791 LCE2B Nonsynonymous SNV P25S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.133 297413 chr11 101325788 101325788 G C TRPC6 Nonsynonymous SNV F843L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.072 297414 chr11 101375148 101375148 C T rs201872553 TRPC6 Synonymous SNV P184P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.21 297415 chr8 22476801 22476801 G A rs761381642 CCAR2 Nonsynonymous SNV R886Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 297416 chr1 155257607 155257607 G A rs140216218 HCN3 Nonsynonymous SNV E560K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 297417 chr18 23845235 23845235 G A rs375877215 TAF4B Nonsynonymous SNV A149T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 297418 chr1 156838391 156838391 G A NTRK1 Synonymous SNV E223E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.831 297419 chr18 3102546 3102546 G A rs374054654 MYOM1 Synonymous SNV S1071S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.32 297420 chr18 3253245 3253245 C T rs79676951 MYL12A Synonymous SNV T6T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.858 297421 chr11 556249 556249 C T rs778697304 LMNTD2 Synonymous SNV P400P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.1 297422 chr11 2186946 2186946 C T rs200315461 TH Synonymous SNV E384E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.225 297423 chr18 3452135 3452135 C T rs114378990 TGIF1 Nonsynonymous SNV S53F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 297424 chr8 41554084 41554084 A T rs773245330 ANK1 Synonymous SNV V919V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.115 297425 chr8 42317442 42317442 G T rs751877064 SLC20A2 Synonymous SNV V195V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 297426 chr1 226924797 226924797 C A rs757480336 ITPKB Synonymous SNV P121P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 297427 chr18 47801759 47801759 A G rs752528480 MBD1 Nonsynonymous SNV L283P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 297428 chr1 161018214 161018214 C T rs201040129 ARHGAP30 Nonsynonymous SNV G689D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.005 297429 chr18 658164 658164 C T rs760573111 TYMSOS Synonymous SNV P28P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 297430 chr1 174210670 174210670 A G rs771611825 RABGAP1L Nonsynonymous SNV K161E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 297431 chr11 45949884 45949884 C T LARGE2 Synonymous SNV G637G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 297432 chr8 9759993 9759993 G T rs541434540 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 297433 chr1 156508751 156508751 C T rs377284542 IQGAP3 Nonsynonymous SNV R1044H 0 0.003 0 0 0 1 0 0 0 0 0 0 35 297434 chr11 46806161 46806161 C T rs747385988 CKAP5 Synonymous SNV T677T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 297435 chr11 57582934 57582934 G T CTNND1 Nonsynonymous SNV G796C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 297436 chr18 74270130 74270130 C G rs562947666 LINC00908 0 0 0.003 0 0 0 0 1 0 0 0 0 4.761 297437 chr11 47297468 47297468 C T rs758468455 MADD Synonymous SNV I226I 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 16.31 297438 chr9 100616706 100616706 - GCTGCCGCA FOXE1 A179_I180insAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 297439 chr9 107266601 107266601 T C rs372952920 OR13F1 Nonsynonymous SNV Y20H 0 0 0.007 0 0 0 0 2 0 0 0 0 12.89 297440 chr19 10221008 10221008 G A PPAN, PPAN-P2RY11 Synonymous SNV P224P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.445 297441 chr11 59560627 59560627 G A rs781469550 STX3 Synonymous SNV P174P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.775 297442 chr9 107573173 107573173 G A rs371654931 ABCA1 Synonymous SNV A1361A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.62 297443 chr1 182499430 182499430 G A rs184518879 RGSL1 Nonsynonymous SNV R726H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.361 297444 chr9 112898449 112898449 G A rs193920924 PALM2-AKAP2 Nonsynonymous SNV E67K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.114 297445 chr19 10943731 10943731 A C TMED1 Synonymous SNV A208A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 297446 chr19 11327683 11327683 C T rs768143675 DOCK6 Synonymous SNV A1267A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.861 297447 chr19 12146528 12146528 T G rs537349985 ZNF433-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.253 297448 chr9 115818910 115818912 CTC - rs752210846 ZFP37 R20del 0 0 0.003 0 0 0 0 1 0 0 0 0 297449 chr11 62766399 62766399 G T SLC22A8 Stop gain S129X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297450 chr9 120476333 120476333 G T rs369630866 TLR4 Nonsynonymous SNV V443L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 297451 chr9 123783803 123783803 G T rs145461325 C5 Nonsynonymous SNV T435K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.748 297452 chr2 1653324 1653324 G C rs758592134 PXDN Nonsynonymous SNV T743R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 297453 chr1 202287435 202287435 C T rs373578794 LGR6 Synonymous SNV S529S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 297454 chr1 178852618 178852618 A G RALGPS2 Nonsynonymous SNV E285G 0 0.003 0 0 0 1 0 0 0 0 0 0 33 297455 chr11 14856557 14856557 C T PDE3B Synonymous SNV L746L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.59 297456 chr1 206681098 206681098 G A rs559841670 RASSF5 Nonsynonymous SNV G55R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 297457 chr1 207135723 207135723 G A rs188207561 FCAMR Nonsynonymous SNV H163Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 297458 chr2 23907325 23907325 A G KLHL29 Nonsynonymous SNV I333V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 297459 chr11 5719764 5719764 G A TRIM22 Nonsynonymous SNV E243K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 297460 chr19 17559056 17559067 GGCGGCCAGCGG - TMEM221 P69_A72del 0 0 0.003 0 0 0 0 1 0 0 0 0 297461 chr9 135203380 135203380 T C rs138167195 SETX Nonsynonymous SNV D1202G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 297462 chr1 222721243 222721243 G A rs766123509 HHIPL2 Synonymous SNV Y48Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.434 297463 chr9 137681049 137681049 G A rs149964491 COL5A1 Nonsynonymous SNV G899S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.9 297464 chr19 2247996 2247996 G A SF3A2 Synonymous SNV P282P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.896 297465 chr11 2591912 2591912 G A rs120074177 KCNQ1 Nonsynonymous SNV A178T 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 32 297466 chr9 139228958 139228958 G A rs199980435 GPSM1 Synonymous SNV A41A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.194 297467 chr1 202122923 202122923 C T rs767852057 PTPN7 Nonsynonymous SNV G216E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 297468 chr19 2917236 2917237 AA - rs759315469 ZNF57 Q174Pfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 297469 chr11 71183543 71183543 G T NADSYN1 Nonsynonymous SNV K152N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 297470 chr11 722435 722435 G A rs770244044 EPS8L2 Nonsynonymous SNV R365H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 297471 chr19 33444576 33444576 C T rs74504201 CEP89 Nonsynonymous SNV R146Q 0 0 0.017 0 0 0 0 5 0 0 0 0 2.596 297472 chr19 33444588 33444588 T G rs73035551 CEP89 Nonsynonymous SNV D142A 0 0 0.007 0 0 0 0 2 0 0 0 0 8.482 297473 chr19 33444600 33444601 TT - rs796214581 CEP89 K138Gfs*16 0 0 0.003 0 0 0 0 1 0 0 0 0 297474 chr19 33444610 33444611 AT - CEP89 S135Qfs*19 0 0 0.007 0 0 0 0 2 0 0 0 0 297475 chr19 33698465 33698465 C T rs749971219 LRP3 Nonsynonymous SNV A766V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 297476 chr19 35136790 35136790 G T rs561251037 SCGB2B3P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.273 297477 chr11 5664562 5664562 G A TRIM34, TRIM6-TRIM34 Nonsynonymous SNV G364R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 297478 chr11 5686878 5686878 C T rs774852668 TRIM5 Synonymous SNV E301E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.529 297479 chr1 234529230 234529230 G A TARBP1 Synonymous SNV L1480L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.631 297480 chr1 235955413 235955413 G A rs765358506 LYST Synonymous SNV L1377L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 297481 chr19 37239728 37239728 A G rs767752451 ZNF850 Synonymous SNV F706F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.066 297482 chr11 824567 824567 C T rs202081894 PNPLA2 Nonsynonymous SNV S407F 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 297483 chr9 71098867 71098867 G A PGM5 Nonsynonymous SNV G461D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 297484 chr11 92532222 92532222 T C FAT3 Synonymous SNV L2015L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 297485 chr9 79465468 79465468 G A rs200791797 PRUNE2 Synonymous SNV F85F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 297486 chr1 248085027 248085027 T C rs146726729 OR2T8 Synonymous SNV F236F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.217 297487 chr11 6638542 6638542 A G TPP1 Synonymous SNV H166H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 297488 chr9 99064370 99064370 T G HSD17B3 Nonsynonymous SNV E6A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 297489 chrUn_gl000220 122383 122383 G A LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 297490 chrX 107920844 107920844 A G rs104886399 COL4A5 Nonsynonymous SNV Q1302R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 16.88 297491 chr2 3405629 3405629 G A TRAPPC12 Nonsynonymous SNV V377M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 297492 chr11 6413326 6413326 A G SMPD1 Nonsynonymous SNV Y344C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 297493 chr11 5372919 5372919 T G rs748110031 OR51B6 Stop gain L61X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 297494 chrX 12736648 12736648 G A rs143569009 FRMPD4 Nonsynonymous SNV V1195M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 297495 chrX 129147585 129147585 C T rs770800501 BCORL1 Synonymous SNV A279A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.48 297496 chr2 120005614 120005614 C T rs150323456 STEAP3 Synonymous SNV R284R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 297497 chr19 44661744 44661744 G A rs186620429 ZNF234 Synonymous SNV S525S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.39 297498 chr2 141458133 141458133 C T LRP1B Nonsynonymous SNV G2162E 0 0 0 1 0 0 0.003 0 0 0 0 0 31 297499 chr19 48183457 48183457 C T BICRA Synonymous SNV L344L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.185 297500 chrX 36246745 36246745 C G CFAP47 Nonsynonymous SNV A2273G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 297501 chr19 48675084 48675084 G T ZSWIM9 Nonsynonymous SNV G9C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.116 297502 chrX 51150733 51150733 G A rs781890238 EZHIP Nonsynonymous SNV A289T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 297503 chrX 53561112 53561112 C T HUWE1 Nonsynonymous SNV R4293H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 297504 chr2 44051148 44051148 T C rs115590670 ABCG5 Nonsynonymous SNV N410D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 297505 chr2 44079524 44079524 G T rs777258651 ABCG8 Nonsynonymous SNV R198M 0.001 0 0 0 1 0 0 0 0 0 0 0 27 297506 chr2 173355760 173355760 C T ITGA6 Synonymous SNV H896H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.21 297507 chr12 105280126 105280126 G T SLC41A2 Nonsynonymous SNV D324E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 297508 chr10 104414967 104414967 C T TRIM8 Nonsynonymous SNV A234V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 297509 chr19 52570732 52570732 G A rs369122307 ZNF841 Nonsynonymous SNV R19W 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 297510 chr11 608597 608597 C A rs371780907 PHRF1 Synonymous SNV S1047S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 297511 chr10 1065535 1065535 C T rs771329449 IDI2 Synonymous SNV E202E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 297512 chr2 189918906 189918906 C T rs200019093 COL5A2 Synonymous SNV P808P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 19.22 297513 chr12 27841260 27841260 G C rs138941072 PPFIBP1 Nonsynonymous SNV K653N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 297514 chr12 27923989 27923989 C T rs1044140700 MANSC4 Nonsynonymous SNV R74Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 297515 chr12 104378700 104378700 - TAAGGA TDG 0 0.003 0 0 0 1 0 0 0 0 0 0 297516 chr19 54301520 54301520 G A rs747821396 NLRP12 Synonymous SNV P969P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.542 297517 chr2 97366160 97366160 C T rs764501397 FER1L5 Synonymous SNV H1674H 0.001 0 0 0 1 0 0 0 0 0 0 0 17 297518 chr10 127685142 127685142 A G rs760347988 FANK1 Nonsynonymous SNV N135S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 297519 chr19 56733549 56733549 T A rs369166936 ZSCAN5A Nonsynonymous SNV S179C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 297520 chr19 56733550 56733550 G T rs540546268 ZSCAN5A Nonsynonymous SNV S178R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 297521 chr12 129178384 129178384 G A rs374080693 TMEM132C Nonsynonymous SNV R487H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 297522 chr2 73316162 73316162 T G rs770754642 RAB11FIP5 Nonsynonymous SNV N238T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 297523 chr2 74688445 74688445 C T rs376424106 MOGS Nonsynonymous SNV G824D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 297524 chr12 133780397 133780397 T G rs758752286 ZNF268 Nonsynonymous SNV S709A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 297525 chr12 125465269 125465269 - CTC rs779789361 DHX37 E168_S169insE 0 0.003 0 0 0 1 0 0 0 0 0 0 297526 chr10 45487442 45487442 G T RASSF4 Synonymous SNV L299L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.961 297527 chr19 7677043 7677043 C T rs775960644 CAMSAP3 Nonsynonymous SNV P555L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 297528 chr2 152581441 152581441 G C NEB Nonsynonymous SNV T146S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 297529 chr19 7985297 7985297 G A SNAPC2 Nonsynonymous SNV G16S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 297530 chr10 48385862 48385862 A G RBP3 Nonsynonymous SNV M1077T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 297531 chr2 168102400 168102400 G A rs958465056 XIRP2 Nonsynonymous SNV D1278N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 297532 chr10 55626598 55626598 C T rs150387187 PCDH15 Nonsynonymous SNV G1103D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 297533 chr19 9063574 9063574 A G MUC16 Nonsynonymous SNV S7958P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 2.976 297534 chr2 170028581 170028581 C T rs752156045 LRP2 Nonsynonymous SNV R3736H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 297535 chr10 70123762 70123762 T C rs746154674 RUFY2 Synonymous SNV Q478Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.439 297536 chr2 174940229 174940229 G A rs751421055 OLA1 Synonymous SNV G214G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.949 297537 chr1 101203826 101203826 A G VCAM1 Nonsynonymous SNV K644R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 297538 chr11 9069061 9069061 C T rs144080898 SCUBE2 Nonsynonymous SNV R460H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 297539 chr2 179395741 179395741 C T rs397517797 TTN Nonsynonymous SNV V26136M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 297540 chr12 70983758 70983758 C A PTPRB Nonsynonymous SNV C461F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 297541 chr1 108439902 108439902 T G rs57627547 MIR7852 0 0 0.003 0 0 0 0 1 0 0 0 0 7.212 297542 chr2 179455353 179455353 G A rs727504479 TTN Nonsynonymous SNV R11302W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 297543 chr2 128477232 128477232 G A rs751180509 WDR33 Synonymous SNV G789G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.772 297544 chr1 11087030 11087030 A G MASP2 Nonsynonymous SNV M658T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.691 297545 chr12 50188954 50188954 G A NCKAP5L Nonsynonymous SNV R897W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 297546 chr10 88820467 88820467 T C rs200813784 GLUD1 Nonsynonymous SNV N259S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 297547 chr12 89918322 89918322 G A rs201726968 GALNT4 Nonsynonymous SNV A2V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 297548 chr1 115053420 115053420 G A TRIM33 Nonsynonymous SNV A93V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.912 297549 chr1 115272896 115272896 T C CSDE1 Nonsynonymous SNV N416D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.43 297550 chr3 15686331 15686331 A G rs397507176 BTD Nonsynonymous SNV H303R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.2 297551 chr1 117127502 117127502 G A rs766535329 IGSF3 Synonymous SNV S871S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.631 297552 chr3 20042806 20042806 A G rs199957786 PP2D1 Nonsynonymous SNV I269T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 297553 chr2 164467427 164467427 C T rs187422879 FIGN Synonymous SNV P294P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.92 297554 chr12 52940266 52940266 C T rs762028080 KRT71 Nonsynonymous SNV A377T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 297555 chr12 109835556 109835556 C T rs200839067 MYO1H Nonsynonymous SNV T154M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 297556 chr10 99473743 99473743 T C MARVELD1 Nonsynonymous SNV L37P 0 0 0.003 0 0 0 0 1 0 0 0 0 26 297557 chr3 37144479 37144479 C T rs372089261 LRRFIP2 Nonsynonymous SNV R224H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 297558 chr12 53189755 53189755 G A rs759205102 KRT3 Synonymous SNV S24S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 297559 chr10 99968664 99968664 A G rs776852672 R3HCC1L Nonsynonymous SNV T265A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 297560 chr12 111886075 111886075 G A rs148791142 SH2B3 Nonsynonymous SNV R364Q 0 0 0 1 0 0 0.003 0 0 0 0 0 35 297561 chr1 147090985 147090985 C T BCL9 Nonsynonymous SNV P342S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.357 297562 chr11 1017040 1017040 - A MUC6 Frameshift insertion H1921Sfs*9 0 0 0.007 0 0 0 0 2 0 0 0 0 297563 chr11 1017043 1017044 AA - MUC6 Y1920Pfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 297564 chr2 214727304 214727304 C T rs568087608 SPAG16 Nonsynonymous SNV T389M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 297565 chr1 150533473 150533473 G T rs587767754 ADAMTSL4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.713 297566 chr1 151783904 151783904 G A rs769094214 RORC Nonsynonymous SNV P410L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 297567 chr13 114138200 114138200 C T rs144225162 DCUN1D2 Nonsynonymous SNV A59T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 297568 chr1 152659383 152659383 C G rs146504201 LCE2B Nonsynonymous SNV P22A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.391 297569 chr2 219498857 219498857 C T rs762243867 PLCD4 Stop gain Q546X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 297570 chr2 219529030 219529030 G A RNF25 Stop gain R344X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 297571 chr2 220167151 220167151 G A rs748489217 PTPRN Synonymous SNV P234P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.414 297572 chr1 155220313 155220313 A T FAM189B Nonsynonymous SNV C326S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 297573 chr11 108380497 108380497 G T rs776949863 EXPH5 Nonsynonymous SNV P1725T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 297574 chr11 108381176 108381176 G A rs114391005 EXPH5 Synonymous SNV H1498H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.823 297575 chr2 183795425 183795425 G A rs772427539 NCKAP1 Nonsynonymous SNV S984L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 297576 chr11 111590569 111590569 A G SIK2 Nonsynonymous SNV N446S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.052 297577 chr12 62892725 62892725 C T rs761251983 MON2 Synonymous SNV H154H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 297578 chr1 156565256 156565256 T C rs140797137 GPATCH4 Nonsynonymous SNV R293G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.48 297579 chr12 65133194 65133194 T C rs771918136 GNS Nonsynonymous SNV I321V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.846 297580 chr12 6777213 6777213 T C rs372728212 ZNF384 Synonymous SNV A351A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.525 297581 chr12 56397771 56397771 C G SUOX Nonsynonymous SNV P200A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.487 297582 chr12 6883898 6883898 C T rs565145483 LAG3 Nonsynonymous SNV P217S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.114 297583 chr11 118827661 118827661 C - rs750952264 UPK2 C51Vfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 297584 chr1 159410162 159410162 A G rs140818033 OR10J1 Nonsynonymous SNV N194S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.201 297585 chr12 58021931 58021931 C G B4GALNT1 Nonsynonymous SNV V318L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 297586 chr2 234344509 234344509 A G rs200939741 DGKD Nonsynonymous SNV N167S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 297587 chr1 160783602 160783602 C T rs756253241 LY9 Stop gain R211X 0 0 0.003 0 0 0 0 1 0 0 0 0 33 297588 chr1 160784237 160784237 C T rs145723646 LY9 Nonsynonymous SNV T253M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.85 297589 chr12 77417855 77417855 C A rs370128394 E2F7 Nonsynonymous SNV Q892H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 297590 chr1 161017782 161017782 G A ARHGAP30 Nonsynonymous SNV T833I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 297591 chr3 62063888 62063888 A G rs373688958 PTPRG Nonsynonymous SNV I191V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.451 297592 chr2 239157842 239157842 G A rs753788979 PER2 Nonsynonymous SNV A1160V 0.002 0 0 0 2 0 0 0 0 0 0 0 15.2 297593 chr2 241439537 241439537 G A rs140202838 ANKMY1 Nonsynonymous SNV R572W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 297594 chr2 241513695 241513695 G A rs78046508 RNPEPL1 Synonymous SNV T368T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 297595 chr12 83379718 83379718 C T rs757783753 TMTC2 Nonsynonymous SNV R410C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 297596 chr3 101578209 101578209 - TA rs565388806 NFKBIZ *719delinsISSISLEPG* 0 0 0 1 0 0 0.003 0 0 0 0 0 297597 chr12 4708896 4708896 G A rs182553128 DYRK4 Synonymous SNV K241K 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 11.82 297598 chr2 225346708 225346708 G - CUL3 T579Qfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 297599 chr3 9991638 9991639 CT - PRRT3 E54Afs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 297600 chr11 18332456 18332456 T C rs77722090 HPS5 Synonymous SNV E103E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.954 297601 chr1 185094084 185094084 T C rs142906342 TRMT1L Nonsynonymous SNV N428S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 297602 chr3 12858543 12858543 C T rs201904182 CAND2 Synonymous SNV N611N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.87 297603 chr3 14105777 14105777 G T TPRXL 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 297604 chr1 1961469 1961469 C A rs148300882 GABRD Synonymous SNV G369G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.84 297605 chr13 21006427 21006427 C T rs774290659 CRYL1 Synonymous SNV P95P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 297606 chr12 52599800 52599800 T G C12orf80 0 0 0 1 0 0 0.003 0 0 0 0 0 9.269 297607 chr13 115024855 115024855 T C rs776788255 CDC16 Synonymous SNV I380I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 297608 chr13 36909763 36909763 G A rs17854413 SPART Nonsynonymous SNV P69S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.175 297609 chr1 205884524 205884524 G A rs145517351 SLC26A9 Synonymous SNV F779F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 297610 chr11 44069748 44069748 G A rs190500805 ACCSL Synonymous SNV S54S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.469 297611 chr3 130284252 130284252 G A rs199516958 COL6A6 Nonsynonymous SNV G359D 0 0 0 1 0 0 0.003 0 0 0 0 0 24 297612 chr3 8667971 8667971 G A rs752851940 SSUH2 Synonymous SNV C237C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.14 297613 chr1 22178111 22178111 G A rs139001173 HSPG2 Synonymous SNV C2363C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.02 297614 chr3 12861619 12861619 G A rs186179636 CAND2 Synonymous SNV A900A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.19 297615 chr3 12977366 12977366 G A rs199881804 IQSEC1 Nonsynonymous SNV R384W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 297616 chr3 13363757 13363757 C T rs147101927 NUP210 Synonymous SNV P1617P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 297617 chr3 158415717 158415717 G C RARRES1 Nonsynonymous SNV L239V 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 297618 chr3 164764786 164764786 A C rs121912615 SI Nonsynonymous SNV V577G 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 21.6 297619 chr14 101349859 101349859 C T rs373625399 RTL1 Nonsynonymous SNV V423I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 297620 chr3 50418541 50418541 A G rs141327265 CACNA2D2 Synonymous SNV N223N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.646 297621 chr14 102481483 102481483 C G DYNC1H1 Synonymous SNV T2352T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 297622 chr3 51412012 51412012 C T rs780937050 DOCK3 Synonymous SNV N1802N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 297623 chr14 68024059 68024059 A G rs369160231 PLEKHH1 Nonsynonymous SNV K88R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 297624 chr14 105453091 105453091 A G rs766759581 CLBA1 Nonsynonymous SNV Q108R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 297625 chr1 232941110 232941110 G T rs200810226 MAP10 Nonsynonymous SNV C114F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.692 297626 chr3 64005094 64005094 G C rs781268374 PSMD6 Synonymous SNV R87R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.872 297627 chr3 67451261 67451261 A G SUCLG2 Synonymous SNV L359L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.56 297628 chr14 20612416 20612416 C A rs76001619 OR4N5 Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 297629 chr3 73432821 73432821 C T rs890173921 PDZRN3 Nonsynonymous SNV E664K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 297630 chr3 43389583 43389583 G A SNRK Nonsynonymous SNV G405D 0 0.003 0 0 0 1 0 0 0 0 0 0 15.36 297631 chr3 46586624 46586624 T C rs747594252 LRRC2 Nonsynonymous SNV N82S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 297632 chr14 92959873 92959873 C T SLC24A4 Synonymous SNV Y590Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 297633 chr14 94088837 94088837 C T rs137862877 UNC79 Nonsynonymous SNV S1576L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 297634 chr3 113798847 113798847 G A rs149531874 QTRT2 Nonsynonymous SNV E175K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297635 chr14 95669212 95669212 C T rs753335042 CLMN Nonsynonymous SNV R825K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.933 297636 chr14 21462159 21462159 C T rs902036799 METTL17 Nonsynonymous SNV R212C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 297637 chr14 23991458 23991458 G A rs753985089 ZFHX2 Nonsynonymous SNV R2478W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 297638 chr14 23245059 23245059 G A rs139335972 SLC7A7 Synonymous SNV S327S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.26 297639 chr14 45473540 45473540 A G rs754064646 TOGARAM1 Nonsynonymous SNV K872R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 297640 chr1 24993386 24993386 G A rs78787676 SRRM1 Nonsynonymous SNV R485H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 297641 chr1 25570059 25570059 G T rs889010396 RSRP1 Nonsynonymous SNV S246R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 297642 chr3 122514301 122514301 T G rs1027749237 SLC49A4 Nonsynonymous SNV W88G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 297643 chr13 30071388 30071388 C T rs762596190 MTUS2 Nonsynonymous SNV T177M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 297644 chr3 128664255 128664255 C T rs974422389 KIAA1257 Synonymous SNV A348A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.773 297645 chr11 62556828 62556828 - C TMEM179B Frameshift insertion A63Cfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 297646 chr14 62194368 62194368 T C rs113805602 HIF1A Synonymous SNV D280D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.562 297647 chr1 33992830 33992830 G A CSMD2 Synonymous SNV N3256N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.559 297648 chr3 130285665 130285665 A G COL6A6 Nonsynonymous SNV I468V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 297649 chr3 111898509 111898509 C G rs149038615 SLC9C1 Nonsynonymous SNV V882L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 297650 chr1 3692043 3692043 C T rs899095555 SMIM1 Nonsynonymous SNV R36C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 297651 chr14 65249154 65249154 G C SPTB Nonsynonymous SNV H1374D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 297652 chr11 65396113 65396113 G A rs749688807 PCNX3 Synonymous SNV A1250A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 297653 chr15 43109238 43109238 G A rs200125366 TTBK2 Nonsynonymous SNV R199W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 33 297654 chr3 148876534 148876534 G A rs559550536 HPS3 Synonymous SNV T426T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 15.52 297655 chr1 43218255 43218255 C T rs761570342 P3H1 Nonsynonymous SNV G476S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 297656 chr11 66082884 66082884 C T rs771006213 CD248 Nonsynonymous SNV A539T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 297657 chr11 66456220 66456220 G A rs751575277 SPTBN2 Synonymous SNV V2045V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.024 297658 chr14 74976907 74976907 T C rs759896182 LTBP2 Nonsynonymous SNV E1013G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 297659 chr4 52896008 52896008 C T rs762652676 SGCB Nonsynonymous SNV V89M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 297660 chr1 46487718 46487718 G A rs533237627 MAST2 Nonsynonymous SNV V463I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.414 297661 chr3 122629800 122629800 A G SEMA5B Nonsynonymous SNV C968R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 297662 chr3 160129835 160129835 G A rs183816398 SMC4 Nonsynonymous SNV R272Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 297663 chr3 123016205 123016205 G T rs780928011 ADCY5 Synonymous SNV S625S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.911 297664 chr14 100705722 100705722 G C rs142619613 YY1 Nonsynonymous SNV E47D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.001 297665 chr3 126160673 126160673 G A ZXDC Nonsynonymous SNV P777S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.695 297666 chr1 54060079 54060079 G T GLIS1 Nonsynonymous SNV P166H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 297667 chr11 71628732 71628732 G A rs1034228570 LOC100133315 0 0 0.003 0 0 0 0 1 0 0 0 0 16.91 297668 chr1 55248049 55248049 C A rs990319472 TTC22 Nonsynonymous SNV E374D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 297669 chr11 726735 726737 AGA - EPS8L2 K685del 0 0 0.003 0 0 0 0 1 0 0 0 0 297670 chr14 75329318 75329318 T C rs78451431 PROX2 Nonsynonymous SNV E407G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.92 297671 chr14 93412810 93412810 C T rs150527709 ITPK1 Nonsynonymous SNV R137Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 297672 chr14 74412996 74412996 C A FAM161B Nonsynonymous SNV A123S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 297673 chr4 77231073 77231073 C T rs375793479 STBD1 Nonsynonymous SNV R333C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 297674 chr14 94741793 94741793 G A PPP4R4 Synonymous SNV G763G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 297675 chr14 75018993 75018993 C T rs143214774 LTBP2 Synonymous SNV P432P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.72 297676 chr4 85708858 85708858 A G WDFY3 Synonymous SNV Y1226Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.028 297677 chr14 81969168 81969168 A G rs150526325 SEL1L Nonsynonymous SNV V225A 0 0.003 0 0 0 1 0 0 0 0 0 0 24 297678 chr15 30019020 30019020 T C rs752667327 TJP1 Nonsynonymous SNV H759R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 297679 chr3 151599298 151599298 T C rs147886968 SUCNR1 Nonsynonymous SNV W323R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 297680 chr1 86512544 86512544 A G COL24A1 Synonymous SNV P638P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.039 297681 chr1 87634075 87634075 C T LINC01140 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 297682 chr4 106155466 106155466 C T rs749710391 TET2 Nonsynonymous SNV R123C 0 0 0 1 0 0 0.003 0 0 0 0 0 1.473 297683 chr14 24728407 24728407 C T rs565588144 TGM1 Nonsynonymous SNV D345N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 297684 chr15 101608997 101608997 T C rs760287550 LRRK1 Nonsynonymous SNV Y1998H 0.001 0 0 0 1 0 0 0 0 0 0 0 29 297685 chr4 110635571 110635571 C T rs148738146 PLA2G12A Nonsynonymous SNV A178T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 297686 chr3 183508662 183508662 G A rs202049712 YEATS2 Synonymous SNV V997V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 297687 chr15 44884551 44884551 T C SPG11 Nonsynonymous SNV E1574G 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 297688 chr4 3495156 3495156 C G rs749462644 DOK7 Nonsynonymous SNV H171Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 297689 chr1 984431 984513 GCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG - AGRN Q1431_R1433del 0 0 0.003 0 0 0 0 1 0 0 0 0 297690 chr1 985174 985174 C T rs774687739 AGRN Synonymous SNV V1581V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.123 297691 chr12 112337865 112337865 A G rs1006112100 ADAM1A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 297692 chr14 51190358 51190358 C G rs375494048 NIN Synonymous SNV V2075V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 297693 chr15 42040974 42040974 A G MGA Synonymous SNV G1575G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.314 297694 chr4 9998464 9998464 G A rs148002726 SLC2A9 Synonymous SNV F117F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.01 297695 chr14 56119799 56119799 A G KTN1 Nonsynonymous SNV K920R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 13.77 297696 chr15 43028529 43028529 G C rs751739910 CDAN1 Synonymous SNV P180P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 297697 chr20 2686861 2686861 G A rs369945641 EBF4 Nonsynonymous SNV R118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 297698 chr15 66618364 66618364 G A DIS3L Synonymous SNV K495K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 297699 chr20 2796322 2796322 - CTG C20orf141 L138_M139insL 0 0 0.003 0 0 0 0 1 0 0 0 0 297700 chr12 129189956 129189956 G A TMEM132C Nonsynonymous SNV D815N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 297701 chr4 42153899 42153899 G C rs982070468 BEND4 Nonsynonymous SNV P88A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 297702 chr4 3520630 3520630 T C rs145265768 LRPAP1 Nonsynonymous SNV N187S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.064 297703 chr4 184930617 184930617 C T rs900550747 STOX2 Nonsynonymous SNV T209M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.86 297704 chr16 1814181 1814181 C T rs767706759 MAPK8IP3 Synonymous SNV R690R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 297705 chr20 34526758 34526758 G A rs553756514 PHF20 Nonsynonymous SNV G814R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 297706 chr4 57204782 57204782 T C rs750955315 AASDH Nonsynonymous SNV H543R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 297707 chr15 80743235 80743235 A T rs150444467 ARNT2 Nonsynonymous SNV I16L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 297708 chr12 21615766 21615766 A G rs771478182 PYROXD1 Synonymous SNV T103T 0 0 0.007 0 0 0 0 2 0 0 0 0 8.605 297709 chr16 2345727 2345727 T C rs748076621 ABCA3 Nonsynonymous SNV M760V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.146 297710 chr12 25232608 25232608 T C rs147316104 LRMP Nonsynonymous SNV L52P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 297711 chr15 73044980 73044980 T C ADPGK Nonsynonymous SNV Q260R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 297712 chr20 56138720 56138720 C T rs61760967 PCK1 Nonsynonymous SNV L300F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 297713 chr20 57045781 57045781 C T APCDD1L Synonymous SNV G24G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.185 297714 chr16 3085531 3085531 C T rs753330281 LOC100128770 0.001 0 0 0 1 0 0 0 0 0 0 0 9.002 297715 chr15 69318902 69318902 C T rs543816309 NOX5 Nonsynonymous SNV R29W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 297716 chr4 87686567 87686567 T G rs199630109 PTPN13 Nonsynonymous SNV V1199G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 297717 chr20 5932750 5932750 A C rs906306910 MCM8 Nonsynonymous SNV K30T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 297718 chr12 49981405 49981405 A G FAM186B Synonymous SNV L889L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.598 297719 chr12 49982368 49982368 C G rs759324336 FAM186B Nonsynonymous SNV E801D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 297720 chr20 61909555 61909555 G T ARFGAP1 Nonsynonymous SNV G124V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 297721 chr16 1388555 1388555 C T rs750135265 BAIAP3 Nonsynonymous SNV S2L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 297722 chr12 53898210 53898210 T C rs149488319 TARBP2 Nonsynonymous SNV V130A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 297723 chr21 17250133 17250133 G A rs34979861 USP25 Nonsynonymous SNV A719T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 297724 chr12 56532720 56532720 C A rs147070386 ESYT1 Nonsynonymous SNV Q849K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.246 297725 chr15 42680001 42680001 A - rs80338800 CAPN3 T184Rfs*36 0 0 0 1 0 0 0.003 0 0 0 0 0 297726 chr16 58752568 58752568 C T rs78784246 GOT2 Nonsynonymous SNV D111N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 297727 chr15 45464363 45464363 A T rs370815723 SHF Nonsynonymous SNV L334Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 297728 chr16 68330587 68330587 C G SLC7A6 Nonsynonymous SNV P443A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 297729 chr16 23695206 23695206 G A rs759970852 PLK1 Nonsynonymous SNV A278T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297730 chr21 42845377 42845377 G A rs777199120 TMPRSS2 Synonymous SNV G295G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.607 297731 chr15 55632865 55632865 C T rs374803936 PIGB Nonsynonymous SNV T301I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 297732 chr21 44592195 44592195 C T rs79100529 CRYAA, CRYAA2 Synonymous SNV Y109Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.774 297733 chr21 44592312 44592312 T A rs61735857 CRYAA, CRYAA2 Synonymous SNV T148T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.81 297734 chr16 29979443 29979443 A G rs748226274 TMEM219 Synonymous SNV L151L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 297735 chr16 77232086 77232086 C T MON1B Synonymous SNV L363L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 297736 chr21 46604924 46604924 T G ADARB1 Nonsynonymous SNV S495A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 297737 chr16 77759471 77759471 G T rs760402917 NUDT7 Nonsynonymous SNV R60L 0.001 0 0 0 1 0 0 0 0 0 0 0 30 297738 chr12 85521744 85521744 A C LRRIQ1 Nonsynonymous SNV K1381T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 297739 chr16 31196403 31196411 GGCGGCGGC - rs776460861 FUS G228_G230del 0.001 0 0 0 1 0 0 0 0 0 0 0 297740 chr16 31499784 31499784 C T rs148410166 SLC5A2 Nonsynonymous SNV R368W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 297741 chr16 3265839 3265839 G A rs61743528 OR1F2P 0.002 0 0 1 2 0 0.003 0 0 0 0 0 1.023 297742 chr22 19055614 19055614 G C DGCR2 Nonsynonymous SNV S68R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 297743 chr22 19184142 19184142 A G rs781886709 CLTCL1 Nonsynonymous SNV I1300T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 297744 chr15 72190008 72190008 G A rs117500002 MYO9A Synonymous SNV C1612C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 1.035 297745 chr5 484652 484652 C T rs149222138 SLC9A3 Synonymous SNV S305S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.75 297746 chr22 21356994 21356994 C T THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.466 297747 chr16 4790575 4790575 C T rs143102148 C16orf71 Nonsynonymous SNV A233V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.352 297748 chr22 23503758 23503758 C G rs200497505 RAB36 Nonsynonymous SNV A330G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.776 297749 chr16 85834863 85834863 T G COX4I1 Nonsynonymous SNV S18A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 297750 chr5 133534797 133534797 G A rs201998249 PPP2CA Synonymous SNV D214D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.01 297751 chr13 108518847 108518847 T A rs755049158 FAM155A Nonsynonymous SNV E33V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 297752 chr16 5110351 5110351 C T rs559938209 C16orf89 Nonsynonymous SNV G149R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 297753 chr5 13719131 13719131 T C DNAH5 Nonsynonymous SNV E4120G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.6 297754 chr5 13770941 13770941 C T rs35233147 DNAH5 Synonymous SNV T3174T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 14.8 297755 chr15 84581879 84581879 C T rs780180847 ADAMTSL3 Nonsynonymous SNV T579M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 297756 chr15 85147175 85147175 T G rs182736722 ZSCAN2 Nonsynonymous SNV I6S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 297757 chr22 30928662 30928662 G A rs761508538 SEC14L6 Synonymous SNV H91H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.486 297758 chr16 58616794 58616794 G A rs369419200 CNOT1 Nonsynonymous SNV P316L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 297759 chr16 682968 682968 T A WFIKKN1 Synonymous SNV P186P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 297760 chr16 68380138 68380138 C G rs201971379 PRMT7 Nonsynonymous SNV I332M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 297761 chr16 89704265 89704265 C T rs766145851 DPEP1 Synonymous SNV D317D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 297762 chr13 36748957 36748957 C T rs150925868 CCDC169-SOHLH2, SOHLH2 Nonsynonymous SNV V231I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 297763 chr22 38219559 38219559 C T GALR3 Nonsynonymous SNV A49V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 297764 chr22 39713612 39713612 C T rs141131353 RPL3 Synonymous SNV V73V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 297765 chr22 39770350 39770350 C A rs762377335 SYNGR1 Synonymous SNV I43I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 297766 chr22 40074014 40074014 C T rs758332678 CACNA1I Synonymous SNV C1617C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 297767 chr15 93198860 93198860 G T FAM174B Synonymous SNV L10L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.191 297768 chr5 68550445 68550445 C T rs757775175 CDK7 Synonymous SNV A59A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.86 297769 chr13 95055288 95055288 A T rs140343089 GPC6 Synonymous SNV S495S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.94 297770 chr16 1260635 1260635 C T rs371030255 CACNA1H Nonsynonymous SNV A1341V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.83 297771 chr5 154172271 154172271 G A rs376108311 LARP1 Synonymous SNV K13K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.17 297772 chr14 101498381 101498381 G A rs542214199 MIR543 0 0 0.007 0 0 0 0 2 0 0 0 0 17.36 297773 chr16 57546709 57546709 C T rs750089033 CCDC102A Nonsynonymous SNV E533K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 297774 chr16 57832007 57832007 G A KIFC3 Nonsynonymous SNV T50I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 297775 chr2 100019506 100019508 TTC - REV1 K1077del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 297776 chr14 105865793 105865793 G T TEX22 Nonsynonymous SNV S39I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 297777 chr2 10104159 10104159 C G GRHL1 Nonsynonymous SNV I297M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 297778 chr2 101646119 101646119 G C TBC1D8 Nonsynonymous SNV L671V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 297779 chr16 67320972 67320972 C T rs202145234 PLEKHG4 Nonsynonymous SNV R918C 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 297780 chr2 105488964 105488964 C T rs72830494 LINC01159 0 0 0.003 0 0 0 0 1 0 0 0 0 7.517 297781 chr5 112346468 112346468 C T DCP2 Nonsynonymous SNV L320F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 297782 chr2 120979646 120979646 C T rs558182658 TMEM185B Nonsynonymous SNV D303N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 297783 chr17 10318872 10318872 C A rs768940714 MYH8 Nonsynonymous SNV V189L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 297784 chr14 24707598 24707598 G A rs369053454 GMPR2 Nonsynonymous SNV V300M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 297785 chr17 12887934 12887934 C T rs760599717 ARHGAP44 Nonsynonymous SNV P470S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 297786 chr17 15207278 15207278 G T TEKT3 Nonsynonymous SNV T483N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 297787 chr5 126993352 126993352 C T rs751069265 CTXN3 Nonsynonymous SNV R47W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 297788 chr16 85832747 85832747 G A rs148899206 EMC8 Nonsynonymous SNV T52I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 297789 chr2 136575150 136575150 C T rs199635720 LCT Nonsynonymous SNV E490K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 297790 chr17 38978525 38978525 C T KRT10 Nonsynonymous SNV G105S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 297791 chr5 137627745 137627745 G A rs199830488 CDC25C Synonymous SNV L153L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.643 297792 chr17 18075496 18075496 C T rs188485743 MYO15A Synonymous SNV F3414F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.97 297793 chr17 19284735 19284735 C T rs140404849 MAPK7 Synonymous SNV L266L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.717 297794 chr16 8895729 8895729 C T rs138306798 PMM2 Nonsynonymous SNV S47L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297795 chr2 162735688 162735688 G A rs746999616 SLC4A10 Synonymous SNV S253S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 297796 chr14 53112883 53112883 G A rs575530217 ERO1A Synonymous SNV N445N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 297797 chr5 140202785 140202785 G A PCDHA5 Synonymous SNV T475T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.378 297798 chr5 140736788 140736788 A G rs201265946 PCDHGA4 Nonsynonymous SNV D705G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.32 297799 chr5 140764634 140764634 G A rs963028251 PCDHGA7 Nonsynonymous SNV R723H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 297800 chr5 141249100 141249100 G A rs775919408 PCDH1 Nonsynonymous SNV R24C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.818 297801 chr14 61997305 61997305 C T rs138537182 PRKCH Synonymous SNV L585L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.51 297802 chr14 63735863 63735863 G A rs371394112 RHOJ Nonsynonymous SNV G72R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 297803 chr5 145537187 145537187 G T LARS1 Nonsynonymous SNV L236M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 297804 chr5 146798157 146798157 T G DPYSL3 Nonsynonymous SNV K170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 297805 chr2 179255832 179255832 C G OSBPL6 Synonymous SNV V747V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.949 297806 chr5 149412048 149412048 G A HMGXB3 Nonsynonymous SNV G456E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 297807 chr5 149602698 149602698 G A rs200745191 CAMK2A Synonymous SNV I429I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 297808 chr17 31618467 31618467 T G ASIC2 Nonsynonymous SNV K223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 297809 chr16 69390950 69390950 C T TERF2 Nonsynonymous SNV V494I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.46 297810 chr6 46787285 46787285 G A rs755411781 MEP1A Nonsynonymous SNV D134N 0 0 0 1 0 0 0.003 0 0 0 0 0 18.85 297811 chr2 190603337 190603340 TGTC - ANKAR S1211Qfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 297812 chr17 35742990 35742990 A G C17orf78 Synonymous SNV S145S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.173 297813 chr14 91077172 91077172 C T rs373513556 TTC7B Nonsynonymous SNV R627H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 297814 chr2 201469504 201469504 T G rs751193616 AOX1 Nonsynonymous SNV L252R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 297815 chr2 204571454 204571454 C T rs202094371 CD28 Nonsynonymous SNV P12L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 297816 chr14 98112584 98112584 T G rs184610567 LINC02291 0 0 0.003 0 0 0 0 1 0 0 0 0 2.461 297817 chr2 20845263 20845263 C T rs144213150 HS1BP3 Nonsynonymous SNV R12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 297818 chr6 87966950 87966950 T A ZNF292 Synonymous SNV T1201T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.199 297819 chr2 216810411 216810411 G A MREG Synonymous SNV S131S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 297820 chr15 28360685 28360685 C T rs149338352 HERC2 Nonsynonymous SNV V4538M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 297821 chr15 31775535 31775535 G A rs949707738 OTUD7A Synonymous SNV L915L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.69 297822 chr2 219257795 219257795 G A rs77624405 SLC11A1 Nonsynonymous SNV R419Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.56 297823 chr5 155771587 155771587 G A rs200476861 SGCD Nonsynonymous SNV R30Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 297824 chr2 219374744 219374744 G C rs150878701 USP37 Nonsynonymous SNV P328R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.1 297825 chr2 219558698 219558698 G A rs55744350 STK36 Synonymous SNV L776L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 297826 chr2 220083204 220083204 C G rs749367669 ABCB6 Nonsynonymous SNV W64C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 297827 chr6 99893989 99893989 C T rs774806571 USP45 Synonymous SNV K495K 0 0 0 1 0 0 0.003 0 0 0 0 0 8.1 297828 chr2 220162037 220162037 G C PTPRN Nonsynonymous SNV P640R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 297829 chr5 161117217 161117217 T C rs751929676 GABRA6 Synonymous SNV V228V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.191 297830 chr16 9057112 9057112 - CTG rs771103070 USP7 Q10_K11insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 297831 chr15 42840596 42840596 C T LRRC57 Nonsynonymous SNV A13T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 297832 chr2 228884590 228884590 G A rs202074786 SPHKAP Nonsynonymous SNV A327V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 297833 chr15 45404795 45404795 G A DUOX2 Synonymous SNV G94G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.748 297834 chr17 7291729 7291729 T G rs765605513 TNK1 Nonsynonymous SNV I499M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 297835 chr2 234418751 234418751 C T rs762156868 USP40 Nonsynonymous SNV V852I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.033 297836 chr6 26385481 26385481 C T rs769686692 BTN2A2 Synonymous SNV S111S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 297837 chr2 236424714 236424714 - CTGCTGCTGCTGCTGCTC rs58154921 TNRC17 0 0 0.003 0 0 0 0 1 0 0 0 0 297838 chr2 239007036 239007036 G T UBE2F-SCLY 0 0 0.003 0 0 0 0 1 0 0 0 0 3.383 297839 chr2 239059518 239059518 G A rs757030716 KLHL30 Nonsynonymous SNV V517M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 297840 chr6 16327921 16327921 C A rs201030692 ATXN1 Nonsynonymous SNV Q207H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.008 297841 chr6 36566659 36566659 G A SRSF3 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 297842 chr6 36993633 36993633 A G rs996414955 FGD2 Synonymous SNV R508R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 297843 chr17 7751801 7751801 T C rs143209005 KDM6B Nonsynonymous SNV L732P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 297844 chr2 24406402 24406402 A G rs778516038 FAM228A Nonsynonymous SNV K97E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 297845 chr17 56389538 56389538 C T rs952990970 TSPOAP1 Nonsynonymous SNV G822R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 297846 chr15 74883942 74883942 C G ARID3B Nonsynonymous SNV L403V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 297847 chr17 57684496 57684496 C A rs764369751 DHX40 Nonsynonymous SNV T691N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 297848 chr15 76452494 76452494 C T rs377735297 TMEM266 Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 297849 chr2 27668679 27668679 T C rs754517347 IFT172 Nonsynonymous SNV D1616G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 297850 chr6 43010842 43010842 C T rs144556973 CUL7 Synonymous SNV T1228T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.5 297851 chr2 32463352 32463352 C G rs373493465 NLRC4 Synonymous SNV L125L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.441 297852 chr17 80788711 80788711 G A rs144455140 ZNF750 Synonymous SNV S493S 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 6.429 297853 chr2 47177525 47177525 G A rs367596523 TTC7A Nonsynonymous SNV A70T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 297854 chr6 52696727 52696727 C T rs767694912 GSTA5 Synonymous SNV K196K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.04 297855 chr2 54870124 54870124 C G rs766317201 SPTBN1 Nonsynonymous SNV S1275C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 297856 chr17 97040 97040 G A rs753899151 RPH3AL Nonsynonymous SNV L130F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 297857 chr6 57033263 57033263 T C rs892317423 ZNF451 Nonsynonymous SNV M1013T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 297858 chr15 93339420 93339420 G C rs117776200 ASB9P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.932 297859 chr2 7018221 7018221 C T rs201102466 RSAD2 Nonsynonymous SNV S97F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 297860 chr17 59489652 59489652 G A C17orf82 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 297861 chr6 83075716 83075716 G T rs150579994 TPBG Synonymous SNV P346P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.974 297862 chr16 1779198 1779198 C T MAPK8IP3 Nonsynonymous SNV R167W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 297863 chr7 26192502 26192502 C G rs751748852 NFE2L3 Synonymous SNV L128L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 297864 chr6 90577876 90577876 G C rs150022229 CASP8AP2 Nonsynonymous SNV V1623L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 297865 chr16 23701365 23701365 A G PLK1 Nonsynonymous SNV N598S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 297866 chr16 24800877 24800877 G T TNRC6A Nonsynonymous SNV G305V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 297867 chr3 108818209 108818209 C T rs751430053 MORC1 Nonsynonymous SNV S140N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 297868 chr3 11060337 11060337 G A rs746202904 SLC6A1 Nonsynonymous SNV V142I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 297869 chr6 116949339 116949339 G A rs764445960 RSPH4A Nonsynonymous SNV R490Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297870 chr17 45471443 45471443 G A rs7217678 EFCAB13 Synonymous SNV T497T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.995 297871 chr16 325489 325489 C T RGS11 Nonsynonymous SNV V25M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 297872 chr6 130761703 130761703 G A TMEM200A Nonsynonymous SNV A46T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.58 297873 chr16 4432803 4432803 G A rs755454038 VASN Nonsynonymous SNV G642E 0 0 0.007 0 0 0 0 2 0 0 0 0 9.251 297874 chr6 139238715 139238715 G A REPS1 Synonymous SNV I499I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 297875 chr6 155569278 155569278 C T rs41284220 TIAM2 Nonsynonymous SNV T191M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297876 chr6 157522252 157522252 T C rs61747988 ARID1B Synonymous SNV H798H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.058 297877 chr16 703425 703425 C T rs764142978 WDR90 Nonsynonymous SNV R403C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 297878 chr18 33048642 33048642 C T rs112429593 INO80C Nonsynonymous SNV R116Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 297879 chr16 72829360 72829360 C T rs773484911 ZFHX3 Synonymous SNV L1493L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.799 297880 chr16 74657852 74657852 T C rs146574678 RFWD3 Nonsynonymous SNV M708V 0 0 0.007 0 0 0 0 2 0 0 0 0 6.622 297881 chr16 75589834 75589834 C A TMEM231 Synonymous SNV P112P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 297882 chr3 148904351 148904351 A G CP Nonsynonymous SNV F678S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 297883 chr17 7128342 7128342 C T rs151254520 ACADVL Nonsynonymous SNV R610C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 297884 chr3 172835417 172835417 C T rs141312480 SPATA16 Synonymous SNV A35A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.095 297885 chr19 16006361 16006361 T C rs150579280 CYP4F2 Nonsynonymous SNV S100G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 297886 chr18 10699027 10699027 T C PIEZO2 Nonsynonymous SNV H2084R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 297887 chr3 186435442 186435442 G A rs748403595 KNG1 Synonymous SNV V37V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 297888 chr18 72247449 72247449 G A rs746119649 CNDP1 Synonymous SNV P417P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.213 297889 chr7 20824770 20824770 C G SP8 Synonymous SNV S222S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 297890 chr7 6660988 6660988 G A rs760031896 ZNF853 Synonymous SNV P107P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.361 297891 chr3 190158078 190158078 G T rs145746328 TMEM207 Nonsynonymous SNV R87S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 297892 chr17 16344509 16344509 G T rs141888599 SNHG29 0 0 0.003 0 0 0 0 1 0 0 0 0 0.461 297893 chr17 17696478 17696478 G A rs759958067 RAI1 Synonymous SNV A72A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.242 297894 chr3 21448176 21448177 AA - VENTXP7 0 0 0.007 0 0 0 0 2 0 0 1 0 297895 chr17 19246667 19246667 A G rs7212549 B9D1 Synonymous SNV L194L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.158 297896 chr17 19246867 19246867 T C rs7221577 B9D1 Nonsynonymous SNV Y256C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.574 297897 chr19 23927226 23927309 TAAAGGCTTTGCCACATTCTTCACATCTGTAGGGCTTCTCTCCAGTATGAATTATCTTATGTCTGGTAAGGTGTGAGGACTGGT - ZNF681 N348_F375del 0.001 0 0 0 1 0 0 0 0 0 0 0 297898 chr17 19288515 19288515 C T rs60198467 MFAP4 Synonymous SNV T163T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 297899 chr19 23927344 23927344 T C rs112856587 ZNF681 Synonymous SNV K336K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.224 297900 chr17 20922410 20922410 C T rs8072688 USP22 Synonymous SNV S169S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 297901 chr17 21030299 21030299 T A rs78159258 DHRS7B Synonymous SNV A5A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.218 297902 chr3 38354517 38354517 G A rs373359616 SLC22A14 Synonymous SNV L324L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.688 297903 chr19 11354235 11354235 C T rs775121579 DOCK6 Nonsynonymous SNV G419D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 297904 chr19 33417117 33417117 G A rs148166691 CEP89 Synonymous SNV D381D 0.001 0 0 0 1 0 0 0 0 0 0 0 11 297905 chr19 1272167 1272167 C T rs760130363 CIRBP Nonsynonymous SNV P207S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.784 297906 chr3 42680741 42680741 T C rs34897686 NKTR Nonsynonymous SNV M1182T 0 0 0.007 0 0 0 0 2 0 0 0 0 4.597 297907 chr19 1440374 1440374 C T rs139332437 RPS15 Synonymous SNV G117G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.44 297908 chr18 6032222 6032222 T C rs543963669 L3MBTL4 Synonymous SNV A499A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.217 297909 chr3 44598729 44598729 G A rs745595640 ZKSCAN7 Nonsynonymous SNV E64K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 297910 chr19 36002370 36002370 - CCACTGCTGCTGCCACTGCTGCTG rs773012007 DMKN G287_G288insSSSGSSSG 0.001 0 0 0 1 0 0 0 0 0 0 0 297911 chr3 45588985 45588985 C T LARS2 Nonsynonymous SNV P892L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 297912 chr18 67788810 67788810 G A rs192797209 RTTN Synonymous SNV L258L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 297913 chr7 55268949 55268949 A G rs55737335 EGFR Synonymous SNV E738E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.614 297914 chr18 10696523 10696523 T C rs769885127 PIEZO2 Nonsynonymous SNV Y2168C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 297915 chr7 77365801 77365801 G A rs768974834 RSBN1L Nonsynonymous SNV E221K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 297916 chr19 10106787 10106787 G A rs149416121 COL5A3 Synonymous SNV P496P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 7.533 297917 chr3 49167113 49167113 C T rs144230655 LAMB2 Nonsynonymous SNV S481N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.108 297918 chr3 49274027 49274027 A G rs142034770 CCDC36 Nonsynonymous SNV S35G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 297919 chr19 2235958 2235958 C A PLEKHJ1 Synonymous SNV V42V 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 297920 chr7 87465621 87465621 T C rs778604953 SLC25A40 Synonymous SNV T320T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.219 297921 chr19 10665967 10665967 A G rs373535536 KRI1 Nonsynonymous SNV M559T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 297922 chr17 39296244 39296244 G A rs776045940 KRTAP4-6 Nonsynonymous SNV R166C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 297923 chr7 99077295 99077295 G C ZNF789 Synonymous SNV S12S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.075 297924 chr19 18191723 18191723 T C rs751425121 IL12RB1 Nonsynonymous SNV T110A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 297925 chr19 18391285 18391285 T C rs200000692 JUND Nonsynonymous SNV Q294R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 297926 chr17 39674649 39674649 T C rs202231383 KRT15 Nonsynonymous SNV Q144R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 297927 chr17 39890704 39890704 G A rs781971113 HAP1 Synonymous SNV L61L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.01 297928 chr19 14288458 14288458 T C rs750923882 ADGRL1 Nonsynonymous SNV M57V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.16 297929 chr3 97596636 97596636 C T rs185535219 CRYBG3 Nonsynonymous SNV P2200S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 297930 chr7 100550543 100550543 C A MUC3A Nonsynonymous SNV P375Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.719 297931 chr19 23927300 23927300 G C rs970852429 ZNF681 Stop gain S351X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 297932 chr17 4428372 4428372 G A SPNS2 Nonsynonymous SNV V153M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 297933 chr4 106307722 106307722 A G rs757950857 PPA2 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 297934 chr4 108614960 108614960 C T PAPSS1 Synonymous SNV V126V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.39 297935 chr19 35804317 35804317 C T rs757304009 MAG Nonsynonymous SNV T589M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 297936 chr19 3585802 3585802 C T rs727504653 GIPC3 Synonymous SNV F69F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.7 297937 chr4 114276500 114276500 G A rs778145810 ANK2 Synonymous SNV T2242T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.875 297938 chr7 104753235 104753235 C G KMT2E Nonsynonymous SNV P1678A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.603 297939 chr4 119204127 119204127 T C rs146362932 PRSS12 Nonsynonymous SNV I727V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 297940 chr17 54588004 54588004 G A rs747275473 ANKFN1 Nonsynonymous SNV V871I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 297941 chr19 36430768 36430768 G A rs372469806 LRFN3 Synonymous SNV A147A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.662 297942 chr4 121706227 121706227 G A rs769647986 PRDM5 Nonsynonymous SNV P372L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 297943 chr19 17361109 17361109 G A rs61736673 USHBP1 Synonymous SNV L615L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.059 297944 chr7 121721558 121721558 G C rs150922740 AASS Nonsynonymous SNV T759S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.293 297945 chr4 128626927 128626927 C T INTU Nonsynonymous SNV P583L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.039 297946 chr17 59485528 59485528 C A rs140411884 TBX2 Synonymous SNV A600A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.63 297947 chr17 61315247 61315247 C T TANC2 Nonsynonymous SNV S207F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 297948 chr19 42914964 42914964 C T rs200626933 LIPE Nonsynonymous SNV R305H 0.003 0 0 1 3 0 0.003 0 0 0 0 0 2.461 297949 chr19 10659583 10659583 A G rs148969864 ATG4D Nonsynonymous SNV Y217C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 27.4 297950 chr17 67004283 67004283 T A rs138716502 ABCA9 Nonsynonymous SNV I1081F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.93 297951 chr19 39909603 39909603 G A rs368980699 PLEKHG2 Nonsynonymous SNV R349H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 297952 chr4 155489626 155489626 A C FGB Nonsynonymous SNV D212A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 297953 chr19 12984628 12984628 G A MAST1 Synonymous SNV P1219P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.91 297954 chr19 1357042 1357042 A G rs769446351 PWWP3A Nonsynonymous SNV K31R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.82 297955 chr4 17579107 17579107 C T rs199928444 LAP3 Nonsynonymous SNV P7S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 297956 chr19 1507270 1507270 C T rs149051157 ADAMTSL5 Nonsynonymous SNV G275R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 297957 chr4 178262648 178262648 G T rs147766889 NEIL3 Nonsynonymous SNV A241S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 297958 chr4 1807166 1807166 C T rs140594137 FGFR3 Synonymous SNV A387A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.12 297959 chr4 185695029 185695029 C G ACSL1 Nonsynonymous SNV D219H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 297960 chr7 149557490 149557490 C T rs764354146 ZNF862 Nonsynonymous SNV A414V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.71 297961 chr19 44721977 44721977 A C rs991326138 ZNF227 Nonsynonymous SNV K11T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 297962 chr19 39398219 39398219 G A rs200061585 NFKBIB Nonsynonymous SNV G211R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 297963 chr17 78187976 78187976 C T rs150508741 SGSH Nonsynonymous SNV V220M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.8 297964 chr17 7919522 7919522 G C rs12602083 GUCY2D 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 26 297965 chr17 79503280 79503280 C T rs188142101 FSCN2 Synonymous SNV I364I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 15.32 297966 chr19 50332324 50332324 A G MED25 Nonsynonymous SNV N168D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.88 297967 chr19 47259977 47259977 A C rs769568971 FKRP Nonsynonymous SNV N424H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 297968 chr19 39406907 39406907 T C rs201094857 SARS2 Nonsynonymous SNV K403R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 297969 chr17 8135299 8135299 C A rs201879837 CTC1 Nonsynonymous SNV W769C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 297970 chr8 17419551 17419551 G A rs140110447 SLC7A2 Nonsynonymous SNV V535I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.113 297971 chr4 57314616 57314616 G A rs772284340 PAICS Synonymous SNV E142E 0 0 0.007 0 0 0 0 2 0 0 0 0 6.08 297972 chr18 19153641 19153641 G A ESCO1 Synonymous SNV N388N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.309 297973 chr19 49619636 49619636 G T rs552610098 LIN7B Synonymous SNV S115S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 297974 chr18 24496801 24496801 C T rs750066483 CHST9 Nonsynonymous SNV G252R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 297975 chr19 42410637 42410637 G C rs782619422 ARHGEF1 Synonymous SNV P807P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.266 297976 chr19 50156449 50156449 G A rs777625228 SCAF1 Nonsynonymous SNV G935S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.596 297977 chr4 70823276 70823276 G A rs764809165 CSN2 Nonsynonymous SNV P130S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.046 297978 chr4 7194772 7194772 G T rs775112202 SORCS2 Synonymous SNV S133S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.002 297979 chr9 2830961 2830961 C T rs775662366 PUM3 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 297980 chr18 43502371 43502371 C T rs773390222 EPG5 Nonsynonymous SNV A1012T 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 297981 chr18 44181340 44181340 C T LOXHD1 Nonsynonymous SNV G325E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 297982 chr18 44746362 44746362 C T SKOR2 Nonsynonymous SNV M979I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 297983 chr8 35579908 35579908 G A rs144081400 UNC5D Nonsynonymous SNV R428H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 297984 chr19 5223300 5223300 G A rs141070507 PTPRS Nonsynonymous SNV R813C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 297985 chr4 88035620 88035620 A C AFF1 Synonymous SNV P176P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 297986 chr19 407434 407434 G A C2CD4C Nonsynonymous SNV R310W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 297987 chr8 77618052 77618052 A G rs746032378 ZFHX4 Nonsynonymous SNV I577V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 297988 chr9 38411507 38411507 A C rs750816136 IGFBPL1 Nonsynonymous SNV C243G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 297989 chr8 95419671 95419671 C T rs143567963 RAD54B Synonymous SNV T75T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 297990 chr8 97307333 97307333 C G PTDSS1 Nonsynonymous SNV A4G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 297991 chr8 99961116 99961116 G A OSR2 Nonsynonymous SNV R100H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.816 297992 chr8 100133508 100133508 A G rs149176010 VPS13B Synonymous SNV S347S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.206 297993 chr19 5787627 5787627 G A rs746325922 DUS3L Synonymous SNV G153G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.08 297994 chr8 110587404 110587404 T G rs752949685 SYBU Synonymous SNV R445R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 297995 chr8 120772962 120772962 G A rs537891410 TAF2 Nonsynonymous SNV R859W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 297996 chr19 11170786 11170786 G A rs372319442 SMARCA4 Nonsynonymous SNV G1582S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 297997 chr8 123965964 123965964 C T rs749127429 ZHX2 Synonymous SNV C738C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 297998 chr5 131927677 131927677 A G rs747324016 RAD50 Nonsynonymous SNV S582G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.73 297999 chr5 132099519 132099519 A G SEPTIN8 Nonsynonymous SNV I138T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 298000 chr5 132161580 132161580 G A SHROOM1 Nonsynonymous SNV P85S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.744 298001 chr5 1321788 1321788 A C CLPTM1L Nonsynonymous SNV S460A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 298002 chr9 98209490 98209490 G A rs140417636 PTCH1 Nonsynonymous SNV R1298W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 32 298003 chr5 137243471 137243471 T C PKD2L2 Nonsynonymous SNV V339A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.284 298004 chr8 130762732 130762732 T C rs76700535 GSDMC Nonsynonymous SNV Y343C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 298005 chr8 133088791 133088791 C T HHLA1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 298006 chr19 45314497 45314502 TGCGCT - rs573141230 BCAM R34_L35del 0 0 0 1 0 0 0.003 0 0 0 0 0 298007 chr19 9296920 9296920 A G OR7D2 Nonsynonymous SNV T155A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 298008 chr5 139917167 139917167 T C ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV A2407A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 298009 chr19 15302247 15302247 T C rs373870097 NOTCH3 Nonsynonymous SNV M342V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.141 298010 chr19 15852932 15852932 G A rs114944181 OR10H3 Nonsynonymous SNV V244I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 298011 chr5 140572585 140572585 C T PCDHB10 Synonymous SNV L154L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 298012 chr19 47996811 47996811 G A rs959725757 NAPA-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 2.315 298013 chr8 144942316 144942316 G A rs782807341 EPPK1 Synonymous SNV D1702D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.121 298014 chr19 6679204 6679204 T C rs7256789 C3 Nonsynonymous SNV Q1521R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.564 298015 chr19 18120404 18120404 C T rs140896221 ARRDC2 Nonsynonymous SNV P160S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.9 298016 chr19 56599438 56599443 TCGTCG - rs782700382 ZNF787 D366del 0 0.003 0 0 0 1 0 0 0 0 0 0 298017 chr19 56599441 56599443 TCG - ZNF787 D366del 0 0.003 0 0 0 1 0 0 0 0 0 0 298018 chr19 49303024 49303024 G C rs777505048 BCAT2 Nonsynonymous SNV F109L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 298019 chr8 145618105 145618105 C T rs151151901 ADCK5 Synonymous SNV L545L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.609 298020 chr9 117846498 117846498 C T rs200840985 TNC Synonymous SNV R707R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.73 298021 chr19 18979499 18979499 C T GDF1 Synonymous SNV L342L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 298022 chr8 145999080 145999080 G A rs7845196 ZNF34 Synonymous SNV P378P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 9.261 298023 chr8 146033654 146033654 A G rs78918664 ZNF517 Synonymous SNV P444P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.342 298024 chr8 145780980 145780980 C T rs948668753 ARHGAP39 Nonsynonymous SNV R187Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23 298025 chr9 977012 977012 A G rs545146205 DMRT3 Nonsynonymous SNV Y4C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 298026 chr5 156589542 156589542 C G rs762258472 FAM71B Nonsynonymous SNV Q578H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 298027 chr9 2717884 2717884 G A rs777604507 KCNV2 Nonsynonymous SNV G49S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.871 298028 chr5 159776776 159776776 C T rs577083972 C1QTNF2 Nonsynonymous SNV R86Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.6 298029 chr9 127300380 127300380 A G rs754435266 NR6A1 Nonsynonymous SNV I268T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 298030 chr9 14823218 14823218 A G rs16932323 FREM1 Synonymous SNV G759G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 8.766 298031 chr9 17143294 17143294 A G rs144902675 CNTLN Synonymous SNV K123K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.386 298032 chr19 8999536 8999537 CT - MUC16 K13546Nfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 298033 chr19 8999543 8999543 G T MUC16 Synonymous SNV A13544A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.888 298034 chr19 9010995 9010995 G A rs377388093 MUC16 Nonsynonymous SNV R12975W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 298035 chr5 178293271 178293271 T C rs780133878 ZNF354B Synonymous SNV A20A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 298036 chr19 38989817 38989817 A G rs34390345 RYR1 Nonsynonymous SNV I2321V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.9 298037 chr19 9676675 9676675 C T rs142394580 ZNF121 Nonsynonymous SNV E372K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 298038 chr5 39376885 39376885 C T rs142209579 DAB2 Synonymous SNV A647A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 298039 chr9 88918036 88918036 G A rs757658221 TUT7 Synonymous SNV I1117I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 298040 chr19 42794867 42794867 C T rs201286462 CIC Synonymous SNV S649S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.248 298041 chr5 52157332 52157332 T C ITGA1 Synonymous SNV D78D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.293 298042 chr10 863769 863769 G A rs539502085 LARP4B Synonymous SNV L531L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 298043 chr19 44981304 44981304 T C rs143439659 ZNF180 Nonsynonymous SNV Y440C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 298044 chr5 74949003 74949003 G A rs773851670 ANKDD1B Nonsynonymous SNV G279S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 298045 chr5 75596577 75596577 G A rs373236256 SV2C Nonsynonymous SNV D554N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 298046 chr19 45496019 45496019 C T rs146714101 CLPTM1 Nonsynonymous SNV P611L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.37 298047 chr19 47570153 47570153 G A rs200531887 ZC3H4 Synonymous SNV R1124R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 298048 chr19 47960518 47960518 T C SLC8A2 Nonsynonymous SNV I337V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 298049 chr9 120475423 120475423 C A rs559949755 TLR4 Nonsynonymous SNV N139K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 298050 chr5 80640000 80640000 C T rs78935755 ACOT12 Nonsynonymous SNV R320H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 298051 chr5 82406873 82406873 G A rs28383151 XRCC4 Nonsynonymous SNV A56T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 298052 chr19 48698650 48698650 G T ZSWIM9 Synonymous SNV V443V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.243 298053 chr1 156640657 156640658 AG - NES L1108Gfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 298054 chr10 24885708 24885708 G A rs148593296 ARHGAP21 Synonymous SNV G933G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 298055 chr19 49377766 49377766 A G PPP1R15A Nonsynonymous SNV S426G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 298056 chr1 152329952 152329952 G A rs150377881 FLG2 Nonsynonymous SNV R104C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 298057 chr6 100895212 100895212 G A rs771906086 SIM1 Synonymous SNV Y310Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 298058 chr19 51015456 51015456 G A ASPDH Nonsynonymous SNV P144S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 298059 chr19 51206971 51206971 C T rs928509883 SHANK1 Nonsynonymous SNV D447N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298060 chr6 11190383 11190383 G A NEDD9 Synonymous SNV I424I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.697 298061 chr1 156108510 156108510 C T rs142000963 LMNA Nonsynonymous SNV R614C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 298062 chr9 131857770 131857770 G A rs769803786 CRAT Nonsynonymous SNV A596V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 298063 chr9 131873900 131873900 G A rs945106750 PTPA Synonymous SNV Q7Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.459 298064 chr1 1278129 1278129 C T DVL1 Synonymous SNV K60K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.43 298065 chr9 132515230 132515230 G A rs201949041 PTGES Nonsynonymous SNV T21M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 298066 chr1 167830173 167830173 T - ADCY10 N429Ifs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 298067 chr1 156779490 156779490 G - SH2D2A P198Qfs*62 0.001 0 0 0 1 0 0 0 0 0 0 0 298068 chr6 128134923 128134923 A G rs760964090 THEMIS Nonsynonymous SNV I288T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 298069 chr6 130381281 130381281 C T rs377627906 L3MBTL3 Nonsynonymous SNV A262V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 298070 chr6 130497053 130497053 C T rs199973062 SAMD3 Nonsynonymous SNV R276Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298071 chr6 130530653 130530653 C A rs112197738 SAMD3 Nonsynonymous SNV V148L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 298072 chr6 133078890 133078890 C G rs779651005 VNN2 Nonsynonymous SNV V45L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.758 298073 chr19 54299123 54299123 G C rs201619538 NLRP12 Nonsynonymous SNV R973G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.9 298074 chr6 134350290 134350290 C T SLC2A12 Nonsynonymous SNV V225M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 298075 chr6 139487446 139487446 C G rs369530266 HECA Nonsynonymous SNV I99M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 298076 chr6 144093570 144093570 G A rs753140204 PHACTR2 Nonsynonymous SNV E390K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 298077 chr1 159683744 159683744 G A rs370584143 CRP Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.932 298078 chr1 153234344 153234344 C G rs754075284 LOR Nonsynonymous SNV P307A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 298079 chr1 103440416 103440416 T G rs200115284 COL11A1 Synonymous SNV P810P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.47 298080 chr1 160654974 160654974 A G rs35918317 CD48 Synonymous SNV L30L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.684 298081 chr1 161693326 161693326 C A rs139259107 FCRLB Nonsynonymous SNV S67R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 298082 chr1 201843487 201843487 A C IPO9 Synonymous SNV A940A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.504 298083 chr9 140417257 140417257 G T rs574740997 PNPLA7 Nonsynonymous SNV T242N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.82 298084 chr19 5693566 5693566 G A rs756486128 LONP1 Synonymous SNV P649P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.285 298085 chr1 156642710 156642710 C G NES Nonsynonymous SNV A424P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.3 298086 chr1 112305550 112305550 C T DDX20 Synonymous SNV T411T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.34 298087 chr10 92617423 92617423 C T rs201619956 HTR7 Nonsynonymous SNV M2I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 298088 chr10 13225050 13225050 G A rs199940802 MCM10 Nonsynonymous SNV V350I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 298089 chr10 17127741 17127741 C T rs747040209 CUBN Synonymous SNV L655L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.877 298090 chr10 17169913 17169913 T C rs779666782 CUBN Nonsynonymous SNV N88S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 298091 chr10 18903457 18903457 T G rs979696804 NSUN6 Nonsynonymous SNV K28N 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 298092 chr6 27879093 27879093 G A rs73392698 OR2B2 Synonymous SNV S335S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.995 298093 chr19 861833 861833 C G CFD Nonsynonymous SNV D171E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 298094 chr10 102749489 102749489 C T rs760422059 TWNK Synonymous SNV F444F 0 0 0 1 0 0 0.003 0 0 0 0 0 12.3 298095 chr1 166890611 166890611 G A ILDR2 Nonsynonymous SNV P406L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 298096 chr10 45479476 45479476 G T rs79857424 RASSF4 Nonsynonymous SNV E96D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.163 298097 chr10 45480378 45480378 G A rs57185992 RASSF4 Nonsynonymous SNV R164Q 0 0.003 0 0 0 1 0 0 0 0 0 0 19.38 298098 chr1 210139307 210139307 C T rs756503156 SYT14 Synonymous SNV L49L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.366 298099 chr1 201016721 201016721 G T CACNA1S Nonsynonymous SNV A1492D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 298100 chr19 984453 984453 T C rs748069476 WDR18 Nonsynonymous SNV Y34H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 298101 chr1 1019469 1019469 C T rs761995280 C1orf159 Nonsynonymous SNV E256K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.626 298102 chr1 233398867 233398867 C A rs193085152 PCNX2 Nonsynonymous SNV A66S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 298103 chr6 49753884 49753884 C T rs775967199 PGK2 Synonymous SNV P339P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 298104 chr10 61666078 61666078 A G rs1007818176 CCDC6 Synonymous SNV G35G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 298105 chr6 52993104 52993104 G A rs200632700 GCM1 Nonsynonymous SNV P404L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 298106 chr10 69804250 69804250 T C rs756509007 HERC4 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.931 298107 chr1 11087121 11087121 T C rs148079537 MASP2 Nonsynonymous SNV S628G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 298108 chr1 226347022 226347022 C T rs200702189 ACBD3 Nonsynonymous SNV V256M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 298109 chr1 114442617 114442617 G A rs778102313 AP4B1 Synonymous SNV N173N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 298110 chr6 72596865 72596865 G A rs781243221 RIMS1 Nonsynonymous SNV E47K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 298111 chr1 182898862 182898862 T A rs148270884 SHCBP1L Nonsynonymous SNV I368F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 298112 chr1 228547921 228547921 C G OBSCN Nonsynonymous SNV S6443C 0.002 0 0 0 2 0 0 0 0 0 0 0 3.968 298113 chr1 228584854 228584854 C T TRIM11 Nonsynonymous SNV A250T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.5 298114 chr10 75893803 75893803 C T rs924000710 AP3M1 Nonsynonymous SNV A189T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298115 chr1 21586789 21586789 T C ECE1 Nonsynonymous SNV K185R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 298116 chr7 100172081 100172081 G T ZASP Nonsynonymous SNV S33R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.356 298117 chr1 150527952 150527952 C T rs747879178 ADAMTSL4 Nonsynonymous SNV R428C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298118 chr7 100319597 100319597 G A EPO Nonsynonymous SNV E58K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 298119 chr1 151259508 151259508 C T rs752925191 ZNF687 Synonymous SNV D247D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.16 298120 chr1 152081804 152081804 C T rs371178822 TCHH Nonsynonymous SNV E1297K 0 0 0.007 0 0 0 0 2 0 0 0 0 20.2 298121 chr1 152193780 152193780 G T rs139222671 HRNR Nonsynonymous SNV Q109K 0 0 0.007 0 0 0 0 2 0 0 0 0 21.6 298122 chr1 153752345 153752345 G A rs191183550 SLC27A3 Nonsynonymous SNV R640Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 298123 chr1 171753241 171753241 G A rs61733148 EEF1AKNMT Nonsynonymous SNV G86D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.13 298124 chr1 155240613 155240613 A G rs763812210 CLK2 Synonymous SNV H52H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.625 298125 chr1 156263290 156263290 C A rs199545477 GLMP Synonymous SNV G206G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 298126 chr1 156263343 156263343 G A rs201245351 GLMP Nonsynonymous SNV L189F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.411 298127 chr1 205494275 205494275 T A rs147619411 CDK18 Synonymous SNV I136I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 298128 chr1 177901682 177901682 G A rs778240098 CRYZL2P-SEC16B, SEC16B Synonymous SNV S644S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.931 298129 chr1 157095046 157095046 T A rs779195722 ETV3 Nonsynonymous SNV I376F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 298130 chr10 102269217 102269217 G A rs756794889 SEC31B Synonymous SNV S85S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 298131 chr1 205886446 205886446 C T rs138251525 SLC26A9 Nonsynonymous SNV E765K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 298132 chr1 205890932 205890932 G A rs74146719 SLC26A9 Nonsynonymous SNV P606L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.477 298133 chr1 34254299 34254299 G A CSMD2 Nonsynonymous SNV S522L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 298134 chr7 117431531 117431531 C T rs201248859 CTTNBP2 Synonymous SNV S555S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 298135 chr7 121652760 121652760 A G PTPRZ1 Synonymous SNV T1220T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 298136 chr7 121653910 121653910 G A rs763160827 PTPRZ1 Nonsynonymous SNV E1604K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 298137 chr10 115392924 115392924 C T NRAP Synonymous SNV E482E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 298138 chr1 236925883 236925883 G A rs146426213 ACTN2 Synonymous SNV A883A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.577 298139 chr7 12409925 12409925 G A rs76615632 VWDE Synonymous SNV S554S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.986 298140 chr7 127637923 127637923 C T SND1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.145 298141 chr1 197586843 197586843 T A rs371820117 DENND1B Nonsynonymous SNV Y240F 0 0 0 1 0 0 0.003 0 0 0 0 0 18.06 298142 chr1 169338771 169338771 A T rs142411899 BLZF1 Nonsynonymous SNV K4I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 298143 chr7 128694804 128694804 T G TNPO3 Synonymous SNV T7T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 298144 chr10 123843307 123843307 C G TACC2 Nonsynonymous SNV P431R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.113 298145 chr10 123976188 123976188 C T rs201442031 TACC2 Nonsynonymous SNV A542V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 298146 chr10 124909632 124909632 A G HMX2 Nonsynonymous SNV D272G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 298147 chr7 134678269 134678269 C T AGBL3 Synonymous SNV F50F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 298148 chr7 134851442 134851442 C G rs759630502 CYREN Nonsynonymous SNV S119T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 298149 chr7 136938241 136938241 T A rs772250409 PTN Nonsynonymous SNV I87F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 298150 chr10 128830486 128830486 C A rs756381755 DOCK1 Nonsynonymous SNV A605D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 298151 chr1 47278197 47278197 A C CYP4B1 Nonsynonymous SNV K118Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 298152 chr7 138602218 138602218 T C rs760600298 KIAA1549 Synonymous SNV P718P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.135 298153 chr1 179077030 179077030 C T ABL2 Synonymous SNV V1103V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.644 298154 chr1 54417796 54417796 A G rs144681976 LRRC42 Nonsynonymous SNV R42G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.41 298155 chr1 55174737 55174737 G A MROH7 Nonsynonymous SNV E758K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 298156 chr1 55175797 55175797 C T MROH7 Synonymous SNV S821S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 298157 chr1 183102616 183102616 C A rs61749263 LAMC1 Synonymous SNV A1260A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 298158 chr1 55512316 55512316 C T rs533273863 PCSK9 Nonsynonymous SNV P174S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.68 298159 chr1 1918384 1918384 C T rs545273927 CFAP74 Synonymous SNV A129A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.809 298160 chr1 212977942 212977942 G A rs146905281 TATDN3 Nonsynonymous SNV V125M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 298161 chr11 788329 788329 G A rs151228190 CEND1 Nonsynonymous SNV T83M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 298162 chr1 218478370 218478370 C T rs138212930 RRP15 Nonsynonymous SNV R136C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 298163 chr7 2041729 2041729 G A rs369748983 MAD1L1 Synonymous SNV L371L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 298164 chr7 21630837 21630837 A G DNAH11 Nonsynonymous SNV Y770C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 298165 chr1 204518645 204518645 A G MDM4 Synonymous SNV P110P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 298166 chr1 85725265 85725265 T A rs138901393 C1orf52 Nonsynonymous SNV S18C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 298167 chr7 22330801 22330801 G C RAPGEF5 Nonsynonymous SNV T247R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 298168 chr1 223934845 223934845 C G rs140704789 CAPN2 Nonsynonymous SNV S158C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.9 298169 chr7 2583388 2583388 - T rs730880324 BRAT1 Frameshift insertion V39Gfs*189 0 0 0.003 0 0 0 0 1 0 0 0 0 298170 chr1 207271529 207271529 G A rs148882235 C4BPB Nonsynonymous SNV V180I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 298171 chr7 2749328 2749328 C T rs372223733 AMZ1 Nonsynonymous SNV P219L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 298172 chr11 1094720 1094720 T C rs760724107 MUC2 Synonymous SNV T1936T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 298173 chr1 43748933 43748933 C T rs770832882 C1orf210 Synonymous SNV E3E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.051 298174 chr1 212860163 212860163 C T rs757814619 BATF3 Synonymous SNV P118P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 298175 chr1 44607193 44607193 G T rs773581481 KLF18 Nonsynonymous SNV N37K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.292 298176 chr1 228582508 228582508 C T rs377288870 TRIM11 Synonymous SNV S435S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.006 298177 chr7 39991315 39991315 C T CDK13 Nonsynonymous SNV P359S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.98 298178 chr7 44921387 44921387 C A rs112908972 MIR4657 0 0 0.007 0 0 0 0 2 0 0 0 0 10.86 298179 chr7 45007551 45007551 G A rs369468047 MYO1G Synonymous SNV S527S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 298180 chr11 2434152 2434152 G A rs752712855 TRPM5 Synonymous SNV G729G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 298181 chr11 47357511 47357511 G A rs397515981 MYBPC3 Nonsynonymous SNV T885M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.1 298182 chr1 55085582 55085582 A T FAM151A Nonsynonymous SNV Y73N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 298183 chr1 226044616 226044616 C T TMEM63A Stop gain W493X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 298184 chr1 55280616 55280616 A C LEXM Synonymous SNV P318P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 298185 chr1 228456492 228456492 G T rs773824097 OBSCN Nonsynonymous SNV R1708L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.289 298186 chr1 228582460 228582460 C A TRIM11 Synonymous SNV P451P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 298187 chr1 242015670 242015670 T G EXO1 Nonsynonymous SNV C80G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 298188 chr20 25203612 25203612 T C rs140279087 ENTPD6 Nonsynonymous SNV I143T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 298189 chr20 25204748 25204748 G T ENTPD6 Stop gain G148X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 298190 chr1 235914551 235914551 G A rs781065710 LYST Nonsynonymous SNV A2580V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 298191 chr1 235972205 235972205 T C rs757471831 LYST Nonsynonymous SNV N638S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.923 298192 chr7 73474914 73474914 C T rs191593990 ELN Synonymous SNV T639T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.41 298193 chr1 237755151 237755151 A G rs776046135 RYR2 Nonsynonymous SNV T1425A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.25 298194 chr20 31879751 31879751 T C rs142785015 BPIFB1 Nonsynonymous SNV M185T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 298195 chr20 32659935 32659935 A G rs113387904 RALY Nonsynonymous SNV I19V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 298196 chr1 43228096 43228096 G T P3H1 Synonymous SNV G172G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.547 298197 chr20 33516704 33516704 G A rs780791847 GSS Nonsynonymous SNV T451I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 298198 chr7 82784322 82784322 G C PCLO Nonsynonymous SNV S545R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 298199 chr1 85594437 85594437 T C rs17121810 WDR63 Synonymous SNV H749H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.742 298200 chr1 85595714 85595714 T C rs17121837 WDR63 Synonymous SNV H778H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.872 298201 chr1 85598595 85598595 A G WDR63 Nonsynonymous SNV S825G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 298202 chr1 85647907 85647907 A G rs17122993 SYDE2 Synonymous SNV D806D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 298203 chr1 85648873 85648873 G C rs12090608 SYDE2 Nonsynonymous SNV I484M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.45 298204 chr1 45272117 45272117 C T rs757957615 TCTEX1D4 Nonsynonymous SNV G75E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 298205 chr1 85666340 85666340 G C rs61753572 SYDE2 Nonsynonymous SNV R114G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.869 298206 chr1 85666344 85666344 C A rs61753571 SYDE2 Synonymous SNV A112A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.46 298207 chr20 36640050 36640050 C G TTI1 Synonymous SNV L723L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.396 298208 chr1 53544147 53544147 G A rs748844816 PODN Nonsynonymous SNV R322Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.939 298209 chr7 99997438 99997438 C T PILRA Nonsynonymous SNV L201F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 298210 chr1 55266407 55266407 G A rs144547920 TTC22 Nonsynonymous SNV L144F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 298211 chr1 27023110 27023110 G A ARID1A Synonymous SNV E72E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.064 298212 chr1 57002644 57002644 C T rs143533558 PLPP3 Nonsynonymous SNV V94I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 298213 chr11 10506525 10506525 G A rs145610067 AMPD3 Nonsynonymous SNV D91N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 298214 chr1 6534094 6534094 G T PLEKHG5 Synonymous SNV R190R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.24 298215 chr8 11058660 11058660 G C rs961289266 XKR6 Synonymous SNV S63S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.927 298216 chr1 32671413 32671413 C T rs746515909 IQCC Nonsynonymous SNV T44M 0 0 0 1 0 0 0.003 0 0 0 0 0 18.49 298217 chr1 28657228 28657228 A G rs367589689 MED18 Nonsynonymous SNV M19V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 298218 chr1 74819745 74819745 C T FPGT-TNNI3K, TNNI3K Nonsynonymous SNV A370V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 298219 chr8 121061889 121061889 T C rs763541768 DEPTOR Synonymous SNV I291I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.027 298220 chr8 124664467 124664467 G A rs764060753 KLHL38 Nonsynonymous SNV H234Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 298221 chr1 76388025 76388025 A C rs371876924 ASB17 Nonsynonymous SNV C141G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 298222 chr1 79102759 79102759 A C IFI44L Nonsynonymous SNV I307L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.18 298223 chr1 35442472 35442472 C A rs537182819 LOC653160 0 0 0.007 0 0 0 0 2 0 0 0 0 11.55 298224 chr8 12957206 12957206 G T rs777534672 DLC1 Nonsynonymous SNV D369E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 298225 chr20 60903441 60903441 C T rs369817608 LAMA5 Nonsynonymous SNV R1503H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 298226 chr1 38227290 38227290 C T rs762339788 EPHA10 Nonsynonymous SNV A213T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 298227 chr11 62295358 62295358 C T AHNAK Nonsynonymous SNV M2177I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.14 298228 chr1 75038260 75038260 T C rs943648817 ERICH3 Nonsynonymous SNV D1045G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.195 298229 chr8 139606442 139606442 G A rs759271482 COL22A1 Nonsynonymous SNV T1478I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.302 298230 chr20 25290154 25290154 T A rs752915893 ABHD12 Nonsynonymous SNV H226L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 298231 chr1 43775150 43775150 G T rs550355457 TIE1 Nonsynonymous SNV R382L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 298232 chr11 35308323 35308323 C T SLC1A2 Nonsynonymous SNV G423R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298233 chr11 45249512 45249512 C T PRDM11 Synonymous SNV S1112S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 298234 chr1 51049340 51049340 C T FAF1 Nonsynonymous SNV A339T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 298235 chr1 53370727 53370727 - C rs562170844 ECHDC2 Frameshift insertion R134Afs*36 0 0 0.003 0 0 0 0 1 0 0 0 0 298236 chr11 65792968 65792968 G A rs150803613 CATSPER1 Nonsynonymous SNV R295W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 21.3 298237 chr21 33951075 33951075 C G C21orf59-TCP10L, TCP10L Nonsynonymous SNV A143P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.061 298238 chr11 66358500 66358500 G A rs545124221 CCDC87 Synonymous SNV L663L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.151 298239 chr11 66620128 66620128 G A rs751657066 PC Nonsynonymous SNV P536L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 22.9 298240 chr8 146033207 146033207 C T rs763187657 ZNF517 Synonymous SNV F295F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 298241 chr8 17447168 17447168 A G rs149808884 PDGFRL Nonsynonymous SNV T83A 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 298242 chr1 85648692 85648692 C T rs75774140 SYDE2 Nonsynonymous SNV V545I 0 0 0.007 0 0 0 0 2 0 0 0 0 23 298243 chr8 31014964 31014964 C A rs138886038 WRN Synonymous SNV P1300P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 15.36 298244 chr8 38871493 38871493 G T ADAM9 Nonsynonymous SNV L88F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 298245 chr1 94057968 94057968 C T rs570197402 LOC100129046 0 0 0.003 0 0 0 0 1 0 0 0 0 5.64 298246 chr20 43538793 43538793 C G rs554734835 PABPC1L Synonymous SNV A3A 0 0.005 0 0 0 2 0 0 0 0 0 0 13.61 298247 chr20 10386146 10386146 C T rs61734546 MKKS Nonsynonymous SNV A488T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.528 298248 chr20 62587550 62587550 G A rs766269810 UCKL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.865 298249 chr20 37383766 37383766 G A ACTR5 Synonymous SNV E314E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 298250 chr20 13846084 13846084 T C rs143493878 SEL1L2 Nonsynonymous SNV D494G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 298251 chr11 58920426 58920426 C A rs149508004 FAM111A Nonsynonymous SNV P429T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 298252 chr20 17446040 17446040 C T rs148038441 PCSK2 Synonymous SNV D389D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 298253 chr20 17596586 17596586 C T rs11551704 RRBP1 Synonymous SNV T1312T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.79 298254 chr8 77620106 77620106 A G rs368031286 ZFHX4 Synonymous SNV Q972Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.134 298255 chr20 17968919 17968919 A G rs143218981 MGME1 Nonsynonymous SNV H201R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 298256 chr11 62414062 62414062 C T rs772438944 GANAB Nonsynonymous SNV V4I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 298257 chr9 101706511 101706511 A T COL15A1 Nonsynonymous SNV T27S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.584 298258 chr20 25459660 25459660 T C rs148734140 NINL Synonymous SNV T700T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 298259 chr20 2732401 2732401 C T rs776254517 EBF4 Synonymous SNV P354P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 298260 chr20 30584987 30584987 G A XKR7 Synonymous SNV A489A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.237 298261 chr20 23472378 23472378 A G CST8 Nonsynonymous SNV K25R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 298262 chr22 36537658 36537658 T C rs750166827 APOL3 Nonsynonymous SNV K267E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 298263 chr11 119052826 119052826 C T NLRX1 Nonsynonymous SNV A793V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 298264 chr20 33296619 33296619 G T rs148376498 TP53INP2 Nonsynonymous SNV V26L 0 0 0.007 0 0 0 0 2 0 0 0 0 19.52 298265 chr20 30662511 30662511 C G rs529087706 HCK Nonsynonymous SNV L118V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 298266 chr9 116353645 116353645 C T rs150596908 RGS3 Synonymous SNV D337D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.846 298267 chr20 3677750 3677750 C T SIGLEC1 Nonsynonymous SNV V788M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 298268 chr20 36938924 36938924 G C rs5743506 BPI Nonsynonymous SNV E140Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.011 298269 chr20 3732648 3732648 C T HSPA12B Synonymous SNV L546L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.952 298270 chr20 40044056 40044056 C T rs760147001 CHD6 Nonsynonymous SNV A2237T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.554 298271 chr20 61341026 61341026 C T rs745543746 NTSR1 Nonsynonymous SNV A156V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 298272 chr20 42744344 42744344 C T rs142333841 JPH2 Synonymous SNV E657E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.32 298273 chr20 44037557 44037557 C T rs772662074 DBNDD2 Nonsynonymous SNV P188S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 298274 chr9 131285938 131285938 G A rs139953543 GLE1 Nonsynonymous SNV R237Q 0 0 0.003 0 0 0 0 1 0 0 0 0 30 298275 chr9 13176290 13176290 C T rs144992780 MPDZ Nonsynonymous SNV A926T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.82 298276 chr22 50721793 50721793 C T rs374133339 PLXNB2 Synonymous SNV S884S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.78 298277 chr12 6640162 6640162 G A rs140382418 NCAPD2 Nonsynonymous SNV R1347H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 298278 chr22 50893487 50893487 G A rs370182117 SBF1 Nonsynonymous SNV R1522W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 298279 chr12 6884658 6884658 A G LAG3 Nonsynonymous SNV H334R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 298280 chr9 132404206 132404206 G C ASB6 Nonsynonymous SNV L25V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 298281 chr12 8688766 8688767 CT - CLEC4E E136Vfs*58 0 0 0 1 0 0 0.003 0 0 0 0 0 298282 chr9 133920939 133920939 C A rs150066772 LAMC3 Nonsynonymous SNV P471T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 298283 chr11 92623768 92623768 G A rs372361857 FAT3 Nonsynonymous SNV R4388Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 298284 chr9 134019839 134019839 G C rs142507542 NUP214 Nonsynonymous SNV L489F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 298285 chr11 93819318 93819318 C T rs371133631 HEPHL1 Synonymous SNV H681H 0.003 0 0 0 4 0 0 0 0 0 0 0 9.03 298286 chr11 100061978 100061978 T C rs202064442 CNTN5 Synonymous SNV S493S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.47 298287 chr11 108114690 108114690 T C rs758619186 ATM Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.044 298288 chr21 43524044 43524044 G A rs142481877 UMODL1 Nonsynonymous SNV V456M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 298289 chr11 110450831 110450831 C T rs536733608 ARHGAP20 Nonsynonymous SNV G924S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 298290 chr11 111583006 111583006 C G rs55848984 SIK2 Synonymous SNV P391P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.189 298291 chr9 139620463 139620463 C T rs957589050 SNHG7 0 0 0.003 0 0 0 0 1 0 0 0 0 5.603 298292 chr11 111784365 111784365 G T rs782260577 HSPB2 Nonsynonymous SNV V99L 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 298293 chr21 45710999 45710999 G A rs150634562 AIRE Nonsynonymous SNV V301M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 298294 chr2 12880495 12880495 C T rs781077225 TRIB2 Nonsynonymous SNV R203W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 298295 chr11 118516526 118516526 C T rs143017946 PHLDB1 Nonsynonymous SNV R1117W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 298296 chr9 140772665 140772665 T A CACNA1B Nonsynonymous SNV W94R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 298297 chr22 41613143 41613143 C T rs771297693 L3MBTL2 Synonymous SNV F179F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 298298 chr9 140772669 140772669 - TCCATTCGAGT CACNA1B Frameshift insertion Y99Ffs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 298299 chr20 62421265 62421265 G A ZBTB46 Synonymous SNV I282I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.426 298300 chr9 14846022 14846022 G A rs201393312 FREM1 Synonymous SNV D443D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.033 298301 chr22 43567869 43567869 G A rs768761382 TTLL12 Nonsynonymous SNV H511Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 298302 chr11 118899078 118899078 C T SLC37A4 Synonymous SNV V69V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.37 298303 chr21 44476993 44476993 C T rs747419767 CBS, CBSL Nonsynonymous SNV R386H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.6 298304 chr12 48381467 48381467 C T COL2A1 Nonsynonymous SNV R314H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 28.5 298305 chr11 124180053 124180053 C T rs754548110 OR8D1 Nonsynonymous SNV G204R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 298306 chr11 125495891 125495891 G A rs556405813 CHEK1 Stop gain W79X 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 298307 chr22 18566355 18566355 C T rs748291426 PEX26 Nonsynonymous SNV S175L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 298308 chr22 19808859 19808859 G A rs139566986 GNB1L Nonsynonymous SNV P7L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 298309 chr9 78641898 78641898 G A rs769593905 PCSK5 Nonsynonymous SNV V193M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 298310 chr22 23406113 23406113 C T rs145642567 RSPH14 Nonsynonymous SNV R207H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 298311 chr22 30639727 30639727 A C rs780124710 LIF Synonymous SNV G174G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.402 298312 chr9 90313699 90313699 A G DAPK1 Nonsynonymous SNV I914V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.23 298313 chr11 129722378 129722378 A T rs113271985 TMEM45B Star tloss M1? 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.2 298314 chr22 26243426 26243426 C T rs199912164 MYO18B Synonymous SNV S1195S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.834 298315 chr12 6626776 6626776 C T NCAPD2 Synonymous SNV D445D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 298316 chr12 6777070 6777081 TGCTGCTGCTGC - rs753912288 ZNF384 Q397_Q400del 0.002 0 0 0 2 0 0 0 0 0 0 0 298317 chr12 6777079 6777081 TGC - ZNF384 Q400del 0.002 0 0 0 2 0 0 0 0 0 0 0 298318 chr12 6978526 6978526 T G TPI1 Synonymous SNV V143V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 298319 chr22 29876416 29876416 G A rs897546803 NEFH Synonymous SNV V55V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.27 298320 chrX 114425493 114425493 A T rs782489605 RBMXL3 Nonsynonymous SNV N497Y 0 0 0.007 0 0 0 0 2 0 0 1 0 20.2 298321 chrX 114425721 114425721 A G rs782626261 RBMXL3 Nonsynonymous SNV S573G 0 0 0.007 0 0 0 0 2 0 0 1 0 11.85 298322 chr2 127958718 127958718 C T rs781226595 CYP27C1 Stop gain W123X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 298323 chr12 8975874 8975874 G A rs767370461 A2ML1 Synonymous SNV T53T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.92 298324 chr2 131130760 131130760 G A PTPN18 Nonsynonymous SNV G342D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 298325 chrX 144905424 144905424 C T rs782033764 SLITRK2 Nonsynonymous SNV T494M 0 0 0.007 0 0 0 0 2 0 0 1 0 23.2 298326 chr22 38122139 38122139 T - TRIOBP G1193Efs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 298327 chrX 19705772 19705772 A C SH3KBP1 Synonymous SNV A127A 0 0 0.007 0 0 0 0 2 0 0 1 0 14.48 298328 chr2 152422096 152422096 A T rs769252447 NEB Synonymous SNV L4394L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.448 298329 chr12 10998492 10998492 T G PRH1-PRR4 0.002 0 0 0 2 0 0 0 0 0 0 0 2.865 298330 chr22 39709648 39709648 G A rs773469814 RPL3 Synonymous SNV T346T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 298331 chr2 158958587 158958587 T C rs776144701 UPP2 Synonymous SNV V4V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.361 298332 chrX 48814430 48814456 CACCCACACCCACCACCACGCCCGCGG - OTUD5 A126_G134del 0 0 0.007 0 0 0 0 2 0 0 1 0 298333 chr2 160082256 160082256 A G rs199615131 TANC1 Nonsynonymous SNV Q1089R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 298334 chr22 44892727 44892727 C T RTL6 Nonsynonymous SNV R237Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 298335 chrX 76952147 76952147 T C rs45574238 ATRX Synonymous SNV K96K 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 5.998 298336 chrX 77528876 77528876 A G rs139639671 CYSLTR1 Nonsynonymous SNV I123T 0 0 0.007 0 0 0 0 2 0 0 1 0 15.51 298337 chr22 50765280 50765280 G A DENND6B Synonymous SNV C46C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.07 298338 chr2 174097114 174097114 G A rs757134784 MAP3K20 Nonsynonymous SNV R377Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 298339 chr2 101655070 101655070 G C rs368448239 TBC1D8 Synonymous SNV P361P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.653 298340 chr10 112645011 112645011 G C rs892568940 PDCD4 Nonsynonymous SNV E134Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 298341 chr12 45814974 45814974 C A rs137945983 ANO6 Nonsynonymous SNV L780I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 298342 chr2 10263533 10263533 C T RRM2 Nonsynonymous SNV P65L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 298343 chr12 105456760 105456760 A - rs770401066 ALDH1L2 V276Gfs*33 0.001 0 0 1 1 0 0.003 0 0 0 0 0 298344 chr2 179640269 179640269 C T rs762999586 TTN Nonsynonymous SNV E2062K 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 298345 chr2 109103046 109103046 C T rs774543551 GCC2 Nonsynonymous SNV T1291M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 298346 chr2 182396457 182396457 C A rs56194996 ITGA4 Nonsynonymous SNV A913D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 298347 chr2 111886287 111886287 A G BCL2L11 Nonsynonymous SNV S100G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.93 298348 chr12 112518936 112518936 A G rs772750406 NAA25 Synonymous SNV A135A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.59 298349 chr10 124221619 124221619 C A rs754645487 HTRA1 Nonsynonymous SNV Q151K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 298350 chr10 124648184 124648184 A G rs778918487 LOC399815 0 0 0.003 0 0 0 0 1 0 0 0 0 3.959 298351 chr10 124895632 124895632 C G rs752938497 HMX3 Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.751 298352 chr10 124909476 124909476 C A rs781275643 HMX2 Nonsynonymous SNV A220E 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298353 chr2 233322287 233322287 G A ALPI Nonsynonymous SNV G221R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 298354 chr12 53185504 53185504 G A rs369797699 KRT3 Nonsynonymous SNV R429W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 298355 chr10 134261679 134261679 A G rs61865613 C10orf91 0 0 0.007 0 0 0 0 2 0 0 0 0 1.45 298356 chr10 134261737 134261737 G T rs11146377 C10orf91 0 0 0.007 0 0 0 0 2 0 0 0 0 0.218 298357 chr2 136558293 136558293 C T rs145888066 LCT Nonsynonymous SNV D1584N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 298358 chr2 136579663 136579663 T A LCT Nonsynonymous SNV N305Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 298359 chr2 237246937 237246937 C T rs202161626 IQCA1 Nonsynonymous SNV R641Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 298360 chr10 135272021 135272021 C T rs767054972 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.288 298361 chr2 128935432 128935432 C T rs111704403 UGGT1 Synonymous SNV N1217N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 298362 chr2 131487504 131487504 G A rs770766621 GPR148 Synonymous SNV R260R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 298363 chr10 13672313 13672313 C A rs754014779 PRPF18 Synonymous SNV S334S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 298364 chr2 136033235 136033235 C G rs780214016 ZRANB3 Nonsynonymous SNV A353P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 298365 chr12 56398208 56398208 G A rs138602223 SUOX Synonymous SNV E345E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.106 298366 chr12 56733587 56733587 A G IL23A Nonsynonymous SNV H125R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 298367 chr2 160873180 160873180 T C rs140427239 PLA2R1 Nonsynonymous SNV Y499C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 298368 chr2 165947542 165947542 G T rs11885001 SCN3A Synonymous SNV T1658T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.409 298369 chr12 60168958 60168958 G A SLC16A7 Nonsynonymous SNV M294I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 298370 chr12 62982646 62982646 C A MON2 Nonsynonymous SNV S1667R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.137 298371 chr10 31139122 31139122 T C rs774762221 ZNF438 Nonsynonymous SNV K71R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.569 298372 chr12 69127383 69127383 A G NUP107 Synonymous SNV R722R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.147 298373 chr12 69264044 69264044 G A rs1010741458 CPM Synonymous SNV L189L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.831 298374 chr2 220144588 220144588 G T DNAJB2 Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 298375 chr2 220331968 220331968 C T rs771838883 SPEG Nonsynonymous SNV A985V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 298376 chr2 173883447 173883447 C T rs201085724 RAPGEF4 Nonsynonymous SNV S471L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 298377 chr2 179330631 179330631 C G rs532347988 FKBP7 Nonsynonymous SNV E178Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 298378 chr2 179398379 179398379 G A rs528502993 TTN Synonymous SNV N25256N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.29 298379 chr2 179489263 179489263 G A rs765495409 TTN Nonsynonymous SNV T5850I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 298380 chr2 179613121 179613121 T C TTN Nonsynonymous SNV N4669S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.62 298381 chr12 80982185 80982185 C T PTPRQ Synonymous SNV G1349G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 298382 chr2 29390401 29390401 A G CLIP4 Nonsynonymous SNV Y573C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 298383 chr12 101767399 101767399 C T rs750411580 UTP20 Nonsynonymous SNV P2329S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 298384 chr12 107712889 107712889 T C BTBD11 Nonsynonymous SNV S58P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 298385 chr12 108985826 108985826 C T rs773723919 TMEM119 Nonsynonymous SNV V112I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 298386 chr2 235951453 235951453 C T rs139106030 SH3BP4 Synonymous SNV G680G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 298387 chr12 109629472 109629472 C T rs145205732 ACACB Synonymous SNV T733T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.09 298388 chr2 238419622 238419622 G A rs192641134 MIR6811 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.574 298389 chr2 196822054 196822054 C A rs959838971 DNAH7 Nonsynonymous SNV M1003I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 298390 chr2 20166566 20166566 T C rs778831561 WDR35 Synonymous SNV K371K 0 0.003 0 0 0 1 0 0 0 0 0 0 5.187 298391 chr10 73468940 73468940 C T rs767119185 CDH23 Synonymous SNV A1064A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.84 298392 chr2 58390589 58390589 A C rs139801716 FANCL Nonsynonymous SNV F257C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.07 298393 chr12 117669900 117669900 G A rs375371439 NOS1 Nonsynonymous SNV P755L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 298394 chr2 208611797 208611797 T C rs77424120 CCNYL1 Synonymous SNV Y171Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.377 298395 chr2 208993095 208993095 G A rs61736036 CRYGC Synonymous SNV S119S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.13 298396 chr2 69173561 69173561 G T GKN2 Nonsynonymous SNV T116N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.599 298397 chr2 25754431 25754431 A G DTNB Synonymous SNV S100S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 298398 chr2 210791574 210791574 A G UNC80 Synonymous SNV E1824E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.094 298399 chr2 215593643 215593643 T A rs786201573 BARD1 Synonymous SNV A184A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.89 298400 chr2 71360658 71360658 T C rs542683773 MPHOSPH10 Synonymous SNV I240I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.357 298401 chr2 216262506 216262506 G A rs200468961 FN1 Synonymous SNV I1138I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.94 298402 chr2 179414131 179414131 G A rs202090888 TTN Nonsynonymous SNV A21676V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23 298403 chr10 95454663 95454663 T C rs771692369 FRA10AC1 Nonsynonymous SNV Y84C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 298404 chr10 97096683 97096683 A G SORBS1 Synonymous SNV G1078G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.598 298405 chr12 132204012 132204012 C T rs568768973 SFSWAP Synonymous SNV A178A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 298406 chr10 97741826 97741826 G C CC2D2B Nonsynonymous SNV D680H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 298407 chr10 99219158 99219158 G A MMS19 Synonymous SNV L857L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 298408 chr2 231934802 231934802 C A rs774465316 PSMD1 Nonsynonymous SNV Q192K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 298409 chr2 48982697 48982697 G A LHCGR Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 298410 chr2 234749257 234749257 C A rs574081193 HJURP Nonsynonymous SNV E638D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.931 298411 chr11 104901225 104901225 - T rs780307078 CASP1 Stop gain Y132* 0 0 0.003 0 0 0 0 1 0 0 0 0 298412 chr2 239059560 239059560 G A rs546808202 KLHL30 Nonsynonymous SNV V531M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 298413 chr2 239155030 239155030 C T rs750332678 PER2 Nonsynonymous SNV E1252K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 298414 chr2 239990554 239990554 G A rs62189534 MIR4440 0 0 0.003 0 0 0 0 1 0 0 0 0 2.473 298415 chr2 239990592 239990592 T G rs866803309 MIR4440 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 298416 chr2 239990593 239990593 G A rs868741738 MIR4440 0 0 0.003 0 0 0 0 1 0 0 0 0 1.748 298417 chr3 121200501 121200501 T A rs774899596 POLQ Synonymous SNV R2043R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 298418 chr2 21361517 21361517 A T rs751383178 TDRD15 Nonsynonymous SNV D393V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.3 298419 chr2 86266512 86266512 T G POLR1A Nonsynonymous SNV K1272Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 298420 chr2 97365406 97365406 G A rs533378157 FER1L5 Nonsynonymous SNV R1577Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 298421 chr2 220422315 220422315 G A rs200349173 OBSL1 Synonymous SNV P1272P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.24 298422 chr11 124440386 124440386 T C rs151130656 OR8A1 Nonsynonymous SNV V124A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 298423 chr2 225664906 225664906 T C DOCK10 Nonsynonymous SNV I1484V 0 0 0 1 0 0 0.003 0 0 0 0 0 2.047 298424 chr3 105258834 105258834 T G ALCAM Nonsynonymous SNV V249G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 298425 chr13 95899927 95899927 C T rs142182014 ABCC4 Nonsynonymous SNV R52H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 298426 chr13 113978792 113978792 G A rs777783678 GRTP1 Synonymous SNV V221V 0.002 0 0 0 2 0 0 0 0 0 0 0 3.239 298427 chr13 96579471 96579471 T C rs978177529 UGGT2 Synonymous SNV T699T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.044 298428 chr2 54342846 54342846 C T rs147678096 ACYP2 Nonsynonymous SNV A4V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.9 298429 chr2 37076726 37076726 G A rs200050983 STRN Nonsynonymous SNV T739M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 298430 chr2 42513476 42513476 G T EML4 Nonsynonymous SNV G302V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 298431 chr2 68371723 68371723 G A rs781414054 WDR92 Stop gain R137X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 298432 chr2 236839441 236839441 G A rs374260040 AGAP1 Nonsynonymous SNV A453T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.87 298433 chr2 236945274 236945274 C T rs376533017 AGAP1 Nonsynonymous SNV T519M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 298434 chr2 29383238 29383238 G A rs781563201 CLIP4 Nonsynonymous SNV R480H 0.002 0 0 0 2 0 0 0 0 0 0 0 8.724 298435 chr3 121415088 121415088 T C rs373428621 GOLGB1 Nonsynonymous SNV T1348A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 298436 chr14 23236506 23236506 C G rs958443817 OXA1L Nonsynonymous SNV T38R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 298437 chr14 20470456 20470456 C G rs924213060 OR4Q2 Nonsynonymous SNV I45M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.3 298438 chr11 2018212 2018212 C T H19 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 298439 chr2 38829592 38829592 G A HNRNPLL Synonymous SNV S59S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 298440 chr2 96689692 96689692 G A rs375799458 GPAT2 Synonymous SNV C560C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 298441 chr2 98906997 98906997 A C rs75171637 VWA3B Synonymous SNV P680P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.006 298442 chr3 183493746 183493746 - GGA YEATS2 G814_S815insG 0.001 0 0 0 1 0 0 0 0 0 0 0 298443 chr2 99136583 99136583 C T rs551367537 INPP4A Synonymous SNV D24D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 298444 chr2 99180037 99180037 C T rs144299785 INPP4A Synonymous SNV S605S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.68 298445 chr14 31869640 31869640 G A HEATR5A Nonsynonymous SNV R69C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298446 chr2 9989561 9989561 C T rs780503806 TAF1B Synonymous SNV N59N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 298447 chr3 10146327 10146327 G A rs531155141 FANCD2OS Synonymous SNV S44S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.627 298448 chr3 101474277 101474277 G A CEP97 Synonymous SNV L244L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.582 298449 chr11 36595685 36595685 G A RAG1 Synonymous SNV K277K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.498 298450 chr11 3744656 3744656 T C rs565124676 NUP98 Nonsynonymous SNV E579G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 298451 chr3 190326917 190326917 A G IL1RAP Nonsynonymous SNV N162D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 298452 chr3 111936354 111936354 G A SLC9C1 Synonymous SNV T527T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.612 298453 chr2 9572670 9572670 C T rs761040737 CPSF3 Synonymous SNV T87T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 298454 chr14 58817892 58817892 T C rs372021421 ARID4A Synonymous SNV D502D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 298455 chr3 119348284 119348284 T C rs749927420 PLA1A Nonsynonymous SNV V274A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 298456 chr15 40094193 40094193 G A rs777495350 GPR176 Nonsynonymous SNV R185W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 298457 chr3 32030715 32030715 A C rs971185294 ZNF860 Nonsynonymous SNV L48F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 298458 chr14 73743546 73743546 C T rs1023962835 NUMB Nonsynonymous SNV E507K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 298459 chr3 182735069 182735069 G A rs150305281 MCCC1 Synonymous SNV I561I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.06 298460 chr3 101520121 101520121 A G NXPE3 Nonsynonymous SNV S46G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 298461 chr14 64593400 64593400 G A rs144702281 SYNE2 Nonsynonymous SNV E4598K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.05 298462 chr15 50518240 50518240 G C rs755863102 SLC27A2 Nonsynonymous SNV R355P 0 0 0 1 0 0 0.003 0 0 0 0 0 34 298463 chr2 84846883 84846883 A T rs367551290 DNAH6 Nonsynonymous SNV H1216L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 298464 chr3 44541425 44541425 G A rs780490772 ZNF852 Nonsynonymous SNV R282W 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 298465 chr3 185237026 185237026 T - LIPH T264Pfs*43 0.001 0 0 0 1 0 0 0 0 0 0 0 298466 chr3 185367249 185367249 G A rs528084524 IGF2BP2 Nonsynonymous SNV A406V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.64 298467 chr15 56208599 56208599 G A NEDD4 Nonsynonymous SNV P144L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 298468 chr3 186571000 186571000 G A rs202187878 ADIPOQ Synonymous SNV G51G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 298469 chr14 88892584 88892584 C T rs371280215 SPATA7 Synonymous SNV G95G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 298470 chr14 90784433 90784433 C T rs148682249 NRDE2 Nonsynonymous SNV S30N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 298471 chr3 191093082 191093082 G A rs371781270 CCDC50 Nonsynonymous SNV R227Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.303 298472 chr14 91639646 91639646 G A rs775337860 DGLUCY Nonsynonymous SNV C157Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 298473 chr3 149245730 149245730 G A rs138550281 WWTR1 Synonymous SNV P266P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 298474 chr2 98354263 98354263 A G ZAP70 Nonsynonymous SNV E202G 0 0 0 1 0 0 0.003 0 0 0 0 0 29 298475 chr14 74969614 74969614 C T rs137854860 LTBP2 Nonsynonymous SNV V1638M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 34 298476 chr3 126216967 126216967 C T rs148955397 UROC1 Synonymous SNV S455S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 11.99 298477 chr14 93118796 93118796 C T rs762605015 RIN3 Stop gain R393X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 298478 chr14 76488717 76488717 T A rs766606545 IFT43 Synonymous SNV G65G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.469 298479 chr3 153970915 153970915 G A rs543546384 ARHGEF26 Nonsynonymous SNV A771T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 298480 chr11 56511189 56511189 T C OR9G4 Synonymous SNV S33S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 298481 chr14 102483246 102483246 C T rs145487328 DYNC1H1 Synonymous SNV A2586A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.84 298482 chr11 58919522 58919522 T C rs757759067 FAM111A Synonymous SNV L127L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.305 298483 chr3 37368761 37368761 G A GOLGA4 Nonsynonymous SNV G1795D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 298484 chr3 37783298 37783298 C T rs752478910 ITGA9 Nonsynonymous SNV T771M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 298485 chr3 45636961 45636961 C T rs146606283 LIMD1 Nonsynonymous SNV S197F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.356 298486 chr3 46414573 46414573 G T rs1800940 CCR5 Nonsynonymous SNV R60S 0.002 0 0 0 2 0 0 0 0 0 0 0 protective 19.4 298487 chr3 38739920 38739920 G A rs768566944 SCN10A Synonymous SNV L1499L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.241 298488 chr3 150421623 150421625 TGA - ERICH6 S21del 0 0.003 0 0 0 1 0 0 0 0 0 0 298489 chr3 64527529 64527529 G A rs748458289 ADAMTS9 Nonsynonymous SNV R1700C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 298490 chr15 35838325 35838325 C T rs893446395 DPH6 Synonymous SNV L6L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.85 298491 chr14 103804757 103804765 CACCACCAC - rs766707913 EIF5 P183_P185del 0 0.003 0 0 0 1 0 0 0 0 0 0 298492 chr11 6453127 6453127 T C HPX Nonsynonymous SNV Y319C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 298493 chr3 50334347 50334347 T C rs782806200 NAA80 Nonsynonymous SNV Y183C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 298494 chr3 48682958 48682958 C G CELSR3 Nonsynonymous SNV R2572P 0.001 0 0 0 1 0 0 0 0 0 0 0 35 298495 chr3 155560343 155560343 C T SLC33A1 Nonsynonymous SNV E281K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298496 chr3 38347836 38347836 G C rs145815885 SLC22A14 Nonsynonymous SNV G107R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.286 298497 chr15 45968443 45968443 C T rs772488811 SQOR Stop gain R267X 0.001 0 0 0 1 0 0 0 0 0 0 0 49 298498 chr11 66454566 66454566 G A SPTBN2 Synonymous SNV S2265S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.628 298499 chr15 48812976 48812976 C T rs146726731 FBN1 Nonsynonymous SNV G343R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 298500 chr4 103592551 103592551 G A rs369478532 MANBA Nonsynonymous SNV R373W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.94 298501 chr3 52505894 52505894 G A rs1016305103 NISCH Synonymous SNV T158T 0.003 0 0 0 3 0 0 0 0 0 0 0 12.17 298502 chr15 50791162 50791162 A G rs750845525 USP8 Synonymous SNV Q972Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.336 298503 chr11 67399277 67399277 C T rs201107050 TBX10 Synonymous SNV P319P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 298504 chr16 707213 707213 G C rs771430035 WDR90 Nonsynonymous SNV R822P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.7 298505 chr15 58904051 58904051 T C ADAM10 Nonsynonymous SNV N520D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 298506 chr3 50005866 50005866 T G rs756028153 RBM6 Nonsynonymous SNV H336Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.394 298507 chr3 97598558 97598558 A G rs1006353227 CRYBG3 Nonsynonymous SNV K2285R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.046 298508 chr3 187446313 187446313 G A rs137878288 BCL6 Nonsynonymous SNV R459C 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 32 298509 chr3 9825805 9825805 G A rs548979963 TADA3 Nonsynonymous SNV S338F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 298510 chr3 52474416 52474416 C A SEMA3G Nonsynonymous SNV V374L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 298511 chr3 52524828 52524828 G A NISCH Nonsynonymous SNV D1241N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 298512 chr15 69238709 69238709 A G rs747765604 SPESP1 Nonsynonymous SNV Y279C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 298513 chr16 2223996 2223996 G A rs200505184 TRAF7 Nonsynonymous SNV V404I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 298514 chr15 70959125 70959127 TTG - rs779889058 UACA T1286del 0.002 0 0 0 2 0 0 0 0 0 0 0 298515 chr4 141560511 141560511 C T rs760937906 TBC1D9 Synonymous SNV T803T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 298516 chr11 77728106 77728106 G A rs767220900 KCTD14 Stop gain Q101X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298517 chr4 15005749 15005749 - GGGGGGGGGGG CPEB2 Frameshift insertion F488Gfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 298518 chr4 1016202 1016202 C T rs113418020 FGFRL1 Synonymous SNV Y97Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.82 298519 chr3 196083700 196083700 C G rs749387900 UBXN7 Synonymous SNV V442V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.507 298520 chr3 58622882 58622882 G A rs145203737 FAM3D Synonymous SNV D148D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.867 298521 chr3 58739528 58739528 C T rs139574013 C3orf67 Nonsynonymous SNV R712H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.117 298522 chr3 4358088 4358088 C T SETMAR Nonsynonymous SNV R117C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 298523 chr11 8732418 8732418 G A rs547874989 ST5 Nonsynonymous SNV R356C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298524 chr11 9161305 9161305 A C rs976599160 DENND5A Synonymous SNV L1235L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 298525 chr3 97516897 97516897 G T ARL6 Nonsynonymous SNV R193I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 298526 chr4 1219302 1219302 C G rs778804693 CTBP1 Synonymous SNV S131S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 298527 chr11 96116552 96116552 T C rs773580954 CCDC82 Nonsynonymous SNV D291G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 298528 chr12 100042293 100042294 TC - rs745345294 FAM71C L115Rfs*45 0 0 0.003 0 0 0 0 1 0 0 0 0 298529 chr4 103571809 103571809 C T rs200033515 MANBA Nonsynonymous SNV R585Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298530 chr16 19710882 19710882 G C rs775819135 VPS35L Nonsynonymous SNV G809A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 298531 chr4 187004695 187004695 A G TLR3 Nonsynonymous SNV K619E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 298532 chr4 146686726 146686726 G A rs755276818 ZNF827 Synonymous SNV L1009L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.62 298533 chr15 90349758 90349758 G A ANPEP Synonymous SNV G19G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 298534 chr15 90451605 90451605 G T ARPIN, ARPIN-AP3S2 Nonsynonymous SNV H70N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 298535 chr4 121843688 121843688 C T rs772519332 PRDM5 Nonsynonymous SNV A26T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 298536 chr15 81601048 81601048 T A IL16 Nonsynonymous SNV I602N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 298537 chr4 129864258 129864258 C G SCLT1 Nonsynonymous SNV V509L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 298538 chr4 169606664 169606664 G A rs145571230 PALLD Nonsynonymous SNV R48Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 298539 chr3 40503520 40503520 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG RPL14 A159_K160insAAAAAAAAAAA 0 0 0 1 0 0 0.003 0 0 0 0 0 298540 chr12 130941096 130941096 G A RIMBP2 Synonymous SNV A84A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.116 298541 chr3 47450995 47450995 C T rs780485797 PTPN23 Nonsynonymous SNV A503V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 298542 chr16 3333991 3333991 C T rs748365231 ZNF263 Nonsynonymous SNV A58V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 298543 chr16 3647490 3647490 G A rs143831403 SLX4 Nonsynonymous SNV R525C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 298544 chr16 3714438 3714438 C T rs144787542 TRAP1 Nonsynonymous SNV R416H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 28.4 298545 chr4 71522106 71522106 A G JCHAIN Synonymous SNV Y140Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 298546 chr4 55131129 55131129 G A rs151259376 PDGFRA Synonymous SNV V224V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.56 298547 chr4 25664402 25664402 C A SLC34A2 Nonsynonymous SNV P62H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.413 298548 chr4 76924818 76924818 T G CXCL9 Nonsynonymous SNV K104T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.25 298549 chr16 11220115 11220115 G A rs182491407 CLEC16A Nonsynonymous SNV R900Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.711 298550 chr3 52417883 52417883 G A rs528263185 DNAH1 Nonsynonymous SNV G2720R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 298551 chr16 84118682 84118682 C T rs768811661 MBTPS1 Nonsynonymous SNV V398M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 298552 chr4 3494804 3494804 G A rs201304841 DOK7 Nonsynonymous SNV R54Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.5 298553 chr16 84224991 84224991 A G rs760736681 ADAD2 Nonsynonymous SNV Y52C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.37 298554 chr16 15790598 15790598 C A rs762365491 NDE1 Nonsynonymous SNV N276K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 298555 chr16 15812291 15812291 C T rs376154041 MYH11 Nonsynonymous SNV A1726T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.786 298556 chr16 2223541 2223541 G A rs942789564 TRAF7 Nonsynonymous SNV A358T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 298557 chr3 53764497 53764497 C A rs41276445 CACNA1D Synonymous SNV I750I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.5 298558 chr12 48393748 48393748 G A rs142161948 COL2A1 Synonymous SNV F82F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.02 298559 chr4 83424050 83424050 T G rs377209343 TMEM150C Synonymous SNV I55I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 298560 chr16 3021902 3021902 G A rs374456995 PAQR4 Nonsynonymous SNV V185M 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 12.72 298561 chr4 55604659 55604659 G A rs139694927 KIT Nonsynonymous SNV R956Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.6 298562 chr4 4763766 4763766 C T rs145917065 LOC101928279 0 0 0.003 0 0 0 0 1 0 0 0 0 4.317 298563 chr16 88788219 88788219 G A rs936403440 PIEZO1 Synonymous SNV T1737T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 298564 chr16 23505629 23505629 A T rs138397318 GGA2 Nonsynonymous SNV L83I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 298565 chr16 31435446 31435446 C T rs143897954 ITGAD Synonymous SNV V1062V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.587 298566 chr17 182873 182873 G A LOC100506388 0 0 0 1 0 0 0.003 0 0 0 0 0 1.761 298567 chr16 50344646 50344646 C T rs778318722 ADCY7 Synonymous SNV L737L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 298568 chr16 56852630 56852630 G A rs763619675 NUP93 Nonsynonymous SNV E59K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298569 chr12 53777297 53777297 A G rs764454014 SP1 Synonymous SNV Q474Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 298570 chr16 57063946 57063946 C T NLRC5 Synonymous SNV C789C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.778 298571 chr16 57509106 57509106 C T rs138095270 DOK4 Synonymous SNV K105K 0.002 0 0 0 2 0 0 0 0 0 0 0 16.92 298572 chr5 118465006 118465006 T G DMXL1 Nonsynonymous SNV H401Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.45 298573 chr5 122163307 122163307 A G rs375660293 SNX2 Nonsynonymous SNV K375R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 298574 chr12 57578677 57578677 T C rs571661266 LRP1 Nonsynonymous SNV L2081P 0 0 0.003 0 0 0 0 1 0 0 0 0 31 298575 chr16 67327655 67327655 G A rs763596193 KCTD19 Synonymous SNV L670L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.103 298576 chr12 57850272 57850272 C G rs549735432 INHBE Nonsynonymous SNV R232G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 298577 chr4 8407707 8407707 - T rs758037745 ACOX3 Frameshift insertion L251Tfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 298578 chr12 64173875 64173875 G - rs1013899730 RXYLT1 A47Rfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 298579 chr16 70428904 70428904 C T rs540400494 ST3GAL2 Nonsynonymous SNV G172R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 298580 chr12 64813860 64813860 G A rs753329787 XPOT Nonsynonymous SNV R167K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 298581 chr16 70697583 70697583 T C rs367614854 MTSS2 Synonymous SNV L747L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.233 298582 chr16 70697997 70697997 C T rs148604621 MTSS2 Synonymous SNV R609R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.776 298583 chr5 114860238 114860238 G A FEM1C Nonsynonymous SNV P541S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 298584 chr5 122425713 122425713 C T PRDM6 Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 298585 chr5 127597510 127597510 G A rs201962592 FBN2 Nonsynonymous SNV A2761V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 298586 chr12 95485565 95485565 C T rs148790731 FGD6 Synonymous SNV S1256S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 298587 chr12 95907610 95907610 C T METAP2 Nonsynonymous SNV A433V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 298588 chr5 138268592 138268592 G A rs776422787 CTNNA1 Nonsynonymous SNV G447R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.247 298589 chr16 89258280 89258280 C G CDH15 Nonsynonymous SNV N531K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 298590 chr5 140724977 140724977 C T PCDHGA3 Synonymous SNV A459A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 298591 chr5 141304252 141304252 C T rs773168096 DELE1 Synonymous SNV N46N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.058 298592 chr5 143359 143359 G A rs114876243 PLEKHG4B Nonsynonymous SNV V559I 0.002 0 0.01 0 2 0 0 3 0 0 0 0 0.003 298593 chr13 114545607 114545607 G C GAS6-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 298594 chr5 140250671 140250671 G A rs556097993 PCDHA11 Synonymous SNV T661T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.099 298595 chr17 1538666 1538666 G A rs371382517 SCARF1 Nonsynonymous SNV P627S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.039 298596 chr13 25428137 25428137 A G rs772134278 RNF17 Synonymous SNV K1151K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 298597 chr13 28143333 28143333 T C rs764590744 LNX2 Nonsynonymous SNV N163S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.471 298598 chr17 26671619 26671619 G A rs376548251 TNFAIP1 Nonsynonymous SNV R315H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 298599 chr13 33232423 33232423 A G rs202150736 PDS5B Synonymous SNV T120T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.186 298600 chr4 83905849 83905849 A C rs753203227 LIN54 Nonsynonymous SNV I50R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.28 298601 chr13 33684862 33684862 C T rs35364312 STARD13 Synonymous SNV T812T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21 298602 chr17 3664398 3664398 G A rs767830444 ITGAE Synonymous SNV D169D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.216 298603 chr17 4463020 4463020 C T rs768975988 GGT6 Nonsynonymous SNV R59H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 298604 chr17 29701152 29701152 T C rs142636150 NF1 Synonymous SNV N2812N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 1.121 298605 chr4 88293881 88293881 G A rs372213288 HSD17B11 Synonymous SNV V179V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.401 298606 chr4 88416227 88416227 G A SPARCL1 Nonsynonymous SNV A36V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.585 298607 chr4 88957445 88957445 C T rs766343471 PKD2 Synonymous SNV P261P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.93 298608 chr5 167675327 167675327 G A rs202024280 TENM2 Synonymous SNV K2222K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.129 298609 chr13 49796255 49796255 G A rs200619940 MLNR Synonymous SNV S327S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.27 298610 chr4 95496970 95496970 C G rs116148450 PDLIM5 Synonymous SNV P43P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.47 298611 chr17 6330216 6330216 C T rs142319505 AIPL1 Synonymous SNV R146R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.41 298612 chr5 172447761 172447761 C A SNORA74B 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 298613 chr13 61985638 61985638 A G rs375289034 PCDH20 Nonsynonymous SNV I865T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 298614 chr13 73355834 73355834 G C rs199534378 DIS3 Nonsynonymous SNV P46R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 298615 chr17 38499018 38499018 A G rs779768382 RARA Nonsynonymous SNV Y21C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.45 298616 chr17 39394694 39394694 C T rs376076348 KRTAP9-8 Nonsynonymous SNV R131C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 298617 chr17 7640564 7640564 G A rs367776392 DNAH2 Synonymous SNV S386S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.303 298618 chr14 101421761 101421761 G A rs200523150 SNORD114-5 0 0 0.007 0 0 0 0 2 0 0 1 0 5.544 298619 chr14 102471466 102471466 G A rs200722698 DYNC1H1 Nonsynonymous SNV A1776T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.75 298620 chr17 7792385 7792385 C T rs61740589 CHD3 Nonsynonymous SNV P23S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 298621 chr5 192142 192142 C G rs534002505 LRRC14B Nonsynonymous SNV F163L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 25.1 298622 chr17 8015486 8015486 A T rs121434235 ALOXE3 Nonsynonymous SNV L236M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 4.266 298623 chr17 8137863 8137863 C T rs78320653 CTC1 Synonymous SNV P576P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.69 298624 chr17 39637271 39637271 G A rs199599074 KRT35 Nonsynonymous SNV R27C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 298625 chr5 177580681 177580681 C G rs761328868 NHP2 Nonsynonymous SNV K46N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 298626 chr17 40075198 40075198 C A ACLY Nonsynonymous SNV V24L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.11 298627 chr5 67576422 67576422 A G rs746719882 PIK3R1 Nonsynonymous SNV H234R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.479 298628 chr5 491990 491990 G A rs187077782 SLC9A3 Synonymous SNV F136F 0.002 0 0.007 0 2 0 0 2 0 0 0 0 9.644 298629 chr5 1201812 1201812 C T rs201925289 SLC6A19 Nonsynonymous SNV P16L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.01 298630 chr5 53751640 53751640 G T rs139382018 HSPB3 Nonsynonymous SNV R7S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.48 298631 chr5 54618192 54618192 A C rs376118901 MTREX Nonsynonymous SNV N58H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 298632 chr5 54718730 54718730 G A rs750920967 MTREX Nonsynonymous SNV R999H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298633 chr5 133707297 133707297 C G UBE2B Nonsynonymous SNV P4R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 298634 chr5 65350002 65350002 C T rs34528338 ERBIN Synonymous SNV P952P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.94 298635 chr5 65465970 65465970 C T rs767997239 SREK1 Nonsynonymous SNV R365W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 298636 chr5 68470165 68470165 G A rs768278048 CCNB1 Nonsynonymous SNV V212I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 298637 chr17 26817537 26817537 G T rs11568466 SLC13A2 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 298638 chr5 13807709 13807709 C G rs761281232 DNAH5 Synonymous SNV L2626L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.649 298639 chr17 26888582 26888582 G T rs771327885 PIGS Synonymous SNV A178A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.42 298640 chr5 76249982 76249982 A C rs774272979 CRHBP Nonsynonymous SNV I102L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 298641 chr5 140237260 140237260 C T PCDHA10 Nonsynonymous SNV P543S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 298642 chr5 145393421 145393421 C T rs759434705 SH3RF2 Nonsynonymous SNV R286C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 298643 chr5 145531519 145531519 G A rs756133354 LARS1 Nonsynonymous SNV T398I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.68 298644 chr5 79089343 79089343 G A rs747879402 CMYA5 Nonsynonymous SNV R3958Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 298645 chr17 34009751 34009751 A G AP2B1 Nonsynonymous SNV T774A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 298646 chr5 140720771 140720771 G A PCDHGA2 Nonsynonymous SNV G745R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 298647 chr17 34964178 34964178 G A rs201130891 MRM1 Nonsynonymous SNV E237K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 298648 chr5 145442240 145442240 G A rs141207819 SH3RF2 Synonymous SNV T722T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.004 298649 chr5 145838657 145838680 GCCCAGGCCCAGGCCCAAGCCCAA - rs763396233 TCERG1 A235_Q242del 0.001 0 0 0 1 0 0 0 0 0 0 0 298650 chr14 50616893 50616893 C A rs186110427 SOS2 Nonsynonymous SNV K739N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.24 298651 chr5 94939099 94939099 A C ARSK Nonsynonymous SNV S494R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 298652 chr14 52171516 52171516 C A rs368248024 FRMD6 Nonsynonymous SNV L141I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 298653 chr5 150276497 150276497 A G rs146644574 ZNF300 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.218 298654 chr17 18025433 18025433 C T rs373661688 MYO15A Nonsynonymous SNV R1107C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.33 298655 chr5 80375943 80375943 A T rs746877984 RASGRF2 Nonsynonymous SNV E297D 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 298656 chr6 109583254 109583254 C T rs541569585 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.976 298657 chr14 65511429 65511429 G A rs2296319 MIR4706 0 0 0.003 0 0 0 0 1 0 0 0 0 0.785 298658 chr6 118790378 118790378 C T rs765726985 CEP85L Nonsynonymous SNV R704Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.91 298659 chr6 12123176 12123176 A G HIVEP1 Nonsynonymous SNV T1050A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 298660 chr5 176295964 176295964 C T rs775384977 UNC5A Synonymous SNV Y240Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 298661 chr14 74079486 74079486 A G rs12587206 ACOT6 Nonsynonymous SNV S71G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 298662 chr6 127476530 127476530 A G rs778297288 RSPO3 Nonsynonymous SNV N194S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 298663 chr14 75376648 75376648 C G rs757758003 RPS6KL1 Nonsynonymous SNV A290P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.103 298664 chr14 77708757 77708757 G A rs374759104 TMEM63C Nonsynonymous SNV V378I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 298665 chr6 133802617 133802617 G T rs146144708 EYA4 Nonsynonymous SNV M275I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.89 298666 chr5 178581141 178581141 G A ADAMTS2 Synonymous SNV L431L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 298667 chr14 78043180 78043180 T C rs143934634 SPTLC2 Synonymous SNV S187S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.331 298668 chr6 138699269 138699269 T C rs192673013 SMIM28 Synonymous SNV Y20Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 298669 chr5 140203782 140203782 - T rs782374884 PCDHA5 Frameshift insertion L810Ffs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 298670 chr14 88938781 88938781 T C rs768328916 PTPN21 Nonsynonymous SNV Q893R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.1 298671 chr5 140625365 140625365 A G PCDHB15 Synonymous SNV Q73Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.227 298672 chr14 94849061 94849061 C T rs112030253 SERPINA1 Nonsynonymous SNV G172R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.071 298673 chr5 1878280 1878280 G C rs775659764 IRX4 Nonsynonymous SNV Q455E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.11 298674 chr18 224136 224136 C T rs778985342 THOC1 Nonsynonymous SNV A418T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.4 298675 chr15 22928158 22928158 T C rs778873016 CYFIP1 Synonymous SNV Y49Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.62 298676 chr6 166571981 166571981 C T rs368179445 TBXT Nonsynonymous SNV R319Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27 298677 chr6 167570499 167570499 T G GPR31 Nonsynonymous SNV H274P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 298678 chr5 43294166 43294166 G C rs138182863 HMGCS1 Nonsynonymous SNV A350G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 298679 chr6 144081565 144081565 C T rs766386038 PHACTR2 Nonsynonymous SNV P161L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 298680 chr5 52235508 52235508 G A rs759008272 ITGA1 Nonsynonymous SNV R1056Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 298681 chr15 40627875 40627875 G A rs763407978 CCDC9B Synonymous SNV P363P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.878 298682 chr18 23738197 23738197 C G rs200476943 PSMA8 Nonsynonymous SNV H156D 0 0 0 1 0 0 0.003 0 0 0 0 0 25 298683 chr15 41797248 41797248 C T rs142613322 LTK Nonsynonymous SNV R517Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298684 chr18 28576925 28576925 C T DSC3 Synonymous SNV G775G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.99 298685 chr5 167895966 167895966 G A rs773823599 WWC1 Nonsynonymous SNV A1102T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 298686 chr6 28134996 28134996 A G ZNF192P1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 298687 chr15 42701564 42701564 C G CAPN3 Nonsynonymous SNV Q148E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 298688 chr5 176308804 176308804 C T rs143713331 HK3 Nonsynonymous SNV R761H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 298689 chr15 45562425 45562425 C T rs755694355 SLC28A2 Synonymous SNV L533L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 298690 chr17 74622468 74622468 G A rs538778072 ST6GALNAC1 Nonsynonymous SNV R440C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298691 chr6 161137784 161137784 T C PLG Nonsynonymous SNV I259T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 298692 chr6 36168415 36168415 C T rs139217085 BRPF3 Nonsynonymous SNV H106Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.55 298693 chr6 37430675 37430675 A G rs778636348 CMTR1 Nonsynonymous SNV K466E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 298694 chr5 79031185 79031185 A G rs200945698 CMYA5 Synonymous SNV Q2199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.121 298695 chr15 62352525 62352525 C T rs774042449 VPS13C Nonsynonymous SNV D17N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 298696 chr17 78064011 78064011 C A CCDC40 Nonsynonymous SNV T969K 0.002 0 0 0 2 0 0 0 1 0 0 0 2.058 298697 chr6 39883964 39883964 C T rs138822116 MOCS1 Nonsynonymous SNV R57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.376 298698 chr6 20739792 20739792 C T rs200241414 CDKAL1 Synonymous SNV C138C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 298699 chr17 66422303 66422303 G A rs770792481 WIPI1 Synonymous SNV D320D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.41 298700 chr6 25661817 25661817 A G rs201621568 SCGN Nonsynonymous SNV Q64R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.226 298701 chr15 68117965 68117965 C - SKOR1 Q9Kfs*27 0 0 0.003 0 0 0 0 1 0 0 0 0 298702 chr6 46135524 46135524 T C rs1052493262 ENPP5 Nonsynonymous SNV E65G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 298703 chr6 46777179 46777179 T C MEP1A Synonymous SNV I95I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.079 298704 chr15 74631647 74631647 G A rs138177167 CYP11A1 Synonymous SNV P389P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.79 298705 chr6 46977222 46977222 G A rs766570587 ADGRF1 Nonsynonymous SNV T650M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 298706 chr6 49753997 49753997 T C PGK2 Nonsynonymous SNV T302A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.424 298707 chr15 78398100 78398100 T G rs200546031 CIB2 Nonsynonymous SNV K126Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 27.7 298708 chr15 78894528 78894528 C T rs76529122 CHRNA3 Synonymous SNV P152P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.089 298709 chr15 80215175 80215177 AGC - rs561426595 ST20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 298710 chr6 35255425 35255425 G C rs770297922 ZNF76 Nonsynonymous SNV G79R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 298711 chr15 83677400 83677400 G C C15orf40 Nonsynonymous SNV A89G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 298712 chr6 36927100 36927100 C A rs149621137 PI16 Synonymous SNV A117A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 298713 chr6 37443933 37443933 G A CMTR1 Nonsynonymous SNV V690I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 298714 chr6 42074493 42074493 C T rs753343322 C6orf132 Nonsynonymous SNV R386Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 298715 chr19 1621865 1621865 C T rs188936574 TCF3 Synonymous SNV P309P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 17.06 298716 chr17 77769159 77769159 C A CBX8 Nonsynonymous SNV D149Y 0 0.003 0 0 0 1 0 0 0 0 0 0 18.5 298717 chr6 90388405 90388405 T C rs757833858 MDN1 Nonsynonymous SNV K4109E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 298718 chr5 79354029 79354029 G C THBS4 Nonsynonymous SNV D90H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 298719 chr16 1267937 1267937 C G rs372601783 CACNA1H Nonsynonymous SNV P1775R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.3 298720 chr19 5915300 5915300 C G CAPS Nonsynonymous SNV F179L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 298721 chr18 2890560 2890560 T C rs35164564 EMILIN2 Synonymous SNV D145D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.441 298722 chr6 53133954 53133954 C A ELOVL5 Nonsynonymous SNV C249F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22 298723 chr6 157100049 157100049 C G ARID1B Nonsynonymous SNV A329G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.913 298724 chr6 157100055 157100055 C G ARID1B Nonsynonymous SNV A331G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.399 298725 chr6 7231846 7231846 C T RREB1 Synonymous SNV L1172L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 298726 chr7 100648277 100648277 C T MUC12 Synonymous SNV G4811G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.428 298727 chr16 20826291 20826291 G A REXO5 Synonymous SNV V98V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 298728 chr7 100682613 100682613 T C rs761806055 MUC17 Nonsynonymous SNV L2639P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.599 298729 chr16 21328324 21328324 T C rs111913656 CRYM-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 298730 chr16 23647469 23647469 C T rs864622411 PALB2 Nonsynonymous SNV S133N 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 298731 chr7 107215741 107215741 T C rs778730751 DUS4L, DUS4L-BCAP29 Synonymous SNV V155V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.543 298732 chr7 114304408 114304408 C T rs147851941 FOXP2 Synonymous SNV A639A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.74 298733 chr16 2814143 2814143 C A SRRM2 Nonsynonymous SNV T1205K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 298734 chr19 1012178 1012178 C T rs140018971 TMEM259 Nonsynonymous SNV R243Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 298735 chr16 3025741 3025741 G C PKMYT1 Nonsynonymous SNV R82G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 298736 chr7 111981028 111981028 G A rs373354335 ZNF277 Nonsynonymous SNV D371N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 298737 chr7 135392944 135392944 C T rs34547425 SLC13A4 Nonsynonymous SNV V95M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 298738 chr7 137339511 137339511 T A rs34897687 DGKI Synonymous SNV T235T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 298739 chr19 9435423 9435423 G A ZNF559 Nonsynonymous SNV G35S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.21 298740 chr6 151671259 151671259 G A rs150161531 AKAP12 Nonsynonymous SNV C473Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 298741 chr19 3539239 3539239 T C C19orf71 Nonsynonymous SNV F22L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 298742 chr16 4630077 4630077 C T C16orf96 Nonsynonymous SNV T768I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 298743 chr7 142836726 142836726 - GTAGAATAATGGAAGCCCT rs754439002 PIP Stop gain K144_V145delinsKVEX 0 0 0.003 0 0 0 0 1 0 0 0 0 298744 chr19 3760000 3760000 C A rs368085262 APBA3 Nonsynonymous SNV G88V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 298745 chr7 149475055 149475055 C T rs955963132 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 3.031 298746 chr7 149510726 149510726 G A rs759670154 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 298747 chr19 4512186 4512186 C T rs201855306 PLIN4 Nonsynonymous SNV G596S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 298748 chr16 57188265 57188265 G C rs764328745 FAM192A Nonsynonymous SNV I234M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 298749 chr6 161016473 161016473 G C rs199532848 LPA Nonsynonymous SNV L1128V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 298750 chr7 151109943 151109943 G C rs181082252 WDR86-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.072 298751 chr16 630917 630917 C T PIGQ Synonymous SNV N492N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.325 298752 chr7 1027121 1027121 G A rs200641657 CYP2W1 Nonsynonymous SNV R366H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 298753 chr7 103828781 103828781 G A ORC5 Nonsynonymous SNV A201V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 298754 chr6 42883807 42883817 CATGGCCGGTA - PTCRA Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 298755 chr7 155757307 155757307 C T rs140237788 LOC389602 Nonsynonymous SNV P203L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 298756 chr7 156433005 156433005 A C LINC01006 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 298757 chr16 67267853 67267853 G C FHOD1 Nonsynonymous SNV P585A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 298758 chr16 68025875 68025875 G A rs555934050 DPEP2 Synonymous SNV N18N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.448 298759 chr16 69143549 69143549 G A rs780770039 HAS3 Nonsynonymous SNV R84Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 298760 chr7 117144344 117144344 C T rs1800073 CFTR Nonsynonymous SNV R31C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 298761 chr7 22349702 22349702 A C rs775999419 RAPGEF5 Nonsynonymous SNV C133G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 298762 chr6 26087779 26087779 G A rs62625319 LOC108783645 0 0 0 1 0 0 0.003 0 0 0 0 0 8.76 298763 chr16 771380 771380 G A rs776183425 ANTKMT Nonsynonymous SNV A36T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.26 298764 chr7 36489317 36489317 A G ANLN Nonsynonymous SNV Q1004R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.67 298765 chr6 7393443 7393443 G A rs768202371 RIOK1 Synonymous SNV E61E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.681 298766 chr7 39125584 39125584 C T POU6F2 Nonsynonymous SNV A77V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 298767 chr6 74138480 74138480 T C rs755586918 CGAS Nonsynonymous SNV H390R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 298768 chr19 9073638 9073638 C T rs201713021 MUC16 Nonsynonymous SNV R4603Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.56 298769 chr6 7583453 7583453 C T rs577625038 DSP Synonymous SNV I1387I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.89 298770 chr16 863564 863564 T C rs374481521 PRR25 Synonymous SNV G304G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 298771 chr19 9204181 9204181 C T rs111953002 OR1M1 Synonymous SNV T87T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 298772 chr19 9204191 9204191 G A rs111340982 OR1M1 Nonsynonymous SNV A91T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 298773 chr6 35716393 35716393 C T rs147643446 ARMC12 Nonsynonymous SNV R257W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 298774 chr19 9204419 9204419 G A rs79821860 OR1M1 Nonsynonymous SNV V167I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 298775 chr19 9225698 9225698 A T rs189593405 OR7G1 Nonsynonymous SNV F248I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 298776 chr7 28843978 28843978 C A CREB5 Nonsynonymous SNV P150T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 298777 chr19 6429793 6429793 C T rs778686022 SLC25A41 Nonsynonymous SNV R189H 0 0.003 0 0 0 1 0 0 0 0 0 0 28 298778 chr19 10108089 10108089 G T COL5A3 Synonymous SNV G407G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.834 298779 chr7 1482038 1482038 - T MICALL2 Frameshift insertion Q501Tfs*64 0.001 0 0 0 1 0 0 0 0 0 0 0 298780 chr7 5112088 5112088 G A RBAK-RBAKDN Nonsynonymous SNV G112R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.763 298781 chr19 36018111 36018111 G A rs771626348 SBSN Nonsynonymous SNV A358V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.06 298782 chr7 72912939 72912939 A G rs782406061 BAZ1B Synonymous SNV D153D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.272 298783 chr7 40173939 40173939 G C rs867112123 MPLKIP Synonymous SNV G76G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 298784 chr7 76871163 76871163 A G CCDC146 Nonsynonymous SNV N132S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 298785 chr7 77256497 77256497 A G rs565089282 PTPN12 Nonsynonymous SNV T371A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 298786 chr17 1373571 1373573 GAA - MYO1C F808del 0 0 0.003 0 0 0 0 1 0 0 0 0 298787 chr19 15235859 15235859 G A rs79788360 ILVBL Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 298788 chr19 15271686 15271686 G A rs61731975 NOTCH3 Synonymous SNV S2251S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.077 298789 chr19 15272218 15272218 G A rs114447350 NOTCH3 Nonsynonymous SNV P2074L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.87 298790 chr17 15971312 15971312 G A NCOR1 Nonsynonymous SNV P1562L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298791 chr7 48450229 48450229 G A ABCA13 Synonymous SNV L4061L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.313 298792 chr7 2752405 2752405 C T rs201069985 AMZ1 Nonsynonymous SNV R464C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 298793 chr7 100685897 100685899 TCT - rs757404336 MUC17 S3735del 0.001 0 0 0 1 0 0 0 0 0 0 0 298794 chr7 99798778 99798778 C A STAG3 Nonsynonymous SNV F651L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 298795 chr19 17113117 17113117 G C CPAMD8 Nonsynonymous SNV I239M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 298796 chr7 103301859 103301859 T G RELN Nonsynonymous SNV T469P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 298797 chr7 103301862 103301862 T G RELN Nonsynonymous SNV T468P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 298798 chr7 6693957 6693957 G A ZNF316 Synonymous SNV T910T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 298799 chr8 105361312 105361312 C T rs751174268 DCSTAMP Nonsynonymous SNV P178S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.953 298800 chr7 40027281 40027281 G C rs1007429862 CDK13 Nonsynonymous SNV R432T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 298801 chr19 18245489 18245489 G A rs755590946 MAST3 Nonsynonymous SNV E529K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 298802 chr8 119452073 119452073 G A rs117020479 SAMD12 Nonsynonymous SNV T107I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 31 298803 chr7 45703969 45703969 A G ADCY1 Nonsynonymous SNV T338A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.547 298804 chr17 30469471 30469491 CCGCCGCCGCCGCCGCCGCCG - rs767383196 LOC105371730 0 0 0.003 0 0 0 0 1 0 0 0 0 298805 chr7 90894918 90894918 G A rs777272170 FZD1 Synonymous SNV S241S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.509 298806 chr8 132052305 132052305 T A rs999968249 ADCY8 Nonsynonymous SNV Y92F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 298807 chr8 13357165 13357165 T C DLC1 Nonsynonymous SNV H139R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 298808 chr8 134107307 134107307 C T rs531027218 TG Nonsynonymous SNV P2420L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 298809 chr8 135613837 135613837 G A rs200943503 ZFAT Nonsynonymous SNV R647W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 298810 chr7 5334564 5334567 GAGT - rs760932563 SLC29A4 S207Hfs*60 0.001 0 0 0 1 0 0 0 0 0 0 0 298811 chr17 3572436 3572436 G T rs146987134 P2RX5-TAX1BP3 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 298812 chr17 3572438 3572438 G T rs150979622 P2RX5-TAX1BP3 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 298813 chr8 142160934 142160934 T C rs770566857 DENND3 Nonsynonymous SNV V246A 0 0 0.003 0 0 0 0 1 0 0 0 0 15 298814 chr7 138281212 138281212 C T rs776814871 SVOPL Nonsynonymous SNV A321T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 298815 chr17 37118157 37118157 C T rs774579041 FBXO47 Nonsynonymous SNV A109T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.147 298816 chr19 48519260 48519260 G A rs754566239 ELSPBP1 Nonsynonymous SNV D107N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 298817 chr17 38545827 38545827 G A rs375623549 TOP2A Nonsynonymous SNV R1514W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 298818 chr19 35994327 35994327 G A DMKN Nonsynonymous SNV P82L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.542 298819 chr19 36109798 36109798 G A HAUS5 Synonymous SNV L342L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.719 298820 chr8 144812665 144812665 G A rs201858198 FAM83H Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.634 298821 chr8 126096123 126096123 G A rs17852424 WASHC5 Synonymous SNV A6A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.9 298822 chr19 49473038 49473038 C T GYS1 Synonymous SNV A564A 0 0 0 1 0 0 0.003 0 0 0 0 0 12 298823 chr7 77583184 77583184 C T rs753507792 PHTF2 Synonymous SNV I680I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 298824 chr8 133142164 133142164 G A rs199942237 KCNQ3 Nonsynonymous SNV T535M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.966 298825 chr19 49983614 49983614 G T rs200009375 FLT3LG Nonsynonymous SNV A181S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.658 298826 chr7 857105 857105 T G rs572921625 SUN1 Nonsynonymous SNV I4M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.122 298827 chr19 50099512 50099512 G A PRR12 Synonymous SNV E640E 0 0 0 1 0 0 0.003 0 0 0 0 0 4.284 298828 chr19 50143211 50143211 A G rs151014532 RRAS Nonsynonymous SNV F49L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 24.4 298829 chr7 909129 909129 C T rs376370215 SUN1 Synonymous SNV S605S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 298830 chr8 17918965 17918965 T C rs766042490 ASAH1 Nonsynonymous SNV I230V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 298831 chr17 40063747 40063747 T C rs782669328 ACLY Nonsynonymous SNV K232R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 298832 chr17 40120690 40120690 G A rs372029848 CNP Nonsynonymous SNV R183H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.968 298833 chr7 92300823 92300823 G C rs748277804 CDK6 Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.14 298834 chr17 40948044 40948044 C T rs371972756 WNK4 Nonsynonymous SNV R806W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 298835 chr7 96635516 96635518 CGG - rs753286015 DLX6 A83del 0.001 0 0 0 1 0 0 0 0 0 0 0 298836 chr17 42266522 42266522 C T TMUB2 Synonymous SNV T36T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 298837 chr17 42982283 42982283 T C FAM187A Synonymous SNV H362H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 298838 chr8 103564055 103564055 C T rs577757103 ODF1 Nonsynonymous SNV R34W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 298839 chr17 4461596 4461596 - C rs749879162 GGT6 Frameshift insertion A367Gfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 298840 chr17 4686418 4686419 CA - rs768172440 TM4SF5 H197Lfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 298841 chr8 144992234 144992234 C T rs782385807 PLEC Nonsynonymous SNV E3905K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.6 298842 chr7 2598816 2598816 A G IQCE Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 298843 chr19 44586171 44586171 C G rs767649596 ZNF284 Nonsynonymous SNV Q50E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 298844 chr8 67417660 67417660 C T rs771919634 VXN Synonymous SNV P59P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 298845 chr17 56283688 56283688 C G rs200658872 MKS1 Nonsynonymous SNV V443L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 298846 chr8 71646546 71646546 A G XKR9 Nonsynonymous SNV I337V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.332 298847 chr7 44619215 44619215 G A rs141825040 TMED4 Nonsynonymous SNV R134C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 298848 chr8 133816234 133816234 C T rs769309813 PHF20L1 Synonymous SNV D200D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 298849 chr17 57290524 57290524 T C rs144898281 SMG8 Synonymous SNV H780H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 298850 chr8 80575866 80575866 C A STMN2 Nonsynonymous SNV L178M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 298851 chr7 47968923 47968923 T C rs150940974 PKD1L1 Nonsynonymous SNV H313R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 298852 chr8 135613823 135613823 G A rs774212561 ZFAT Synonymous SNV T651T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.73 298853 chr8 22960918 22960918 C G LOC254896 0.001 0 0 0 1 0 0 0 0 0 0 0 4.93 298854 chr8 87588334 87588336 CTC - rs749597083 CNGB3 G709del 0 0 0.003 0 0 0 0 1 0 0 0 0 298855 chr8 94747751 94747751 G A rs773393329 RBM12B Synonymous SNV D296D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 298856 chr8 95844384 95844384 C T rs547031391 INTS8 Synonymous SNV T245T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 298857 chr17 7222459 7222459 A G NEURL4 Synonymous SNV P1196P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.51 298858 chr7 155251469 155251469 C A EN2 Nonsynonymous SNV P133T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.07 298859 chr7 156526895 156526895 C T rs968780146 LMBR1 Nonsynonymous SNV V179I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 298860 chr19 51848544 51848544 G A rs145010124 ETFB Nonsynonymous SNV P321L 0.002 0 0 0 2 0 0 0 0 0 0 0 34 298861 chr17 73569630 73569630 C T rs757256244 LLGL2 Nonsynonymous SNV R932W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 298862 chr19 52447983 52447983 A G ZNF613 Nonsynonymous SNV T283A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 298863 chr8 2092848 2092848 G A rs7000678 MYOM2 Synonymous SNV P1447P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.724 298864 chr9 125437981 125437981 C T rs369112358 OR1L3 Synonymous SNV S191S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.96 298865 chr8 75276490 75276490 C T rs199529910 GDAP1 Nonsynonymous SNV T264M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 298866 chr19 47575268 47575268 G A rs201900826 ZC3H4 Nonsynonymous SNV P638L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 298867 chr17 76525653 76525653 T G DNAH17 Nonsynonymous SNV Q1136H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 298868 chr7 31683036 31683036 G A rs181108787 ITPRID1 Synonymous SNV L684L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.464 298869 chr9 131339739 131339739 C T rs754066930 SPTAN1 Nonsynonymous SNV R347C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298870 chr17 7797447 7797447 C T rs368622201 CHD3 Synonymous SNV S372S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 298871 chr17 78063955 78063955 A T CCDC40 Synonymous SNV T950T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.807 298872 chr9 131866513 131866513 C T rs141699474 CRAT Nonsynonymous SNV V122M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 298873 chr9 133506040 133506040 C T FUBP3 Synonymous SNV N381N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 298874 chr7 38807138 38807138 G C rs139485137 VPS41 Nonsynonymous SNV R391G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 298875 chr17 79007139 79007139 C T rs577851633 BAIAP2-DT 0 0 0.007 0 0 0 0 2 0 0 0 0 0.365 298876 chr8 37985809 37985809 C T rs745334280 ASH2L Nonsynonymous SNV A250V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 298877 chr8 41393917 41393917 G A rs755668554 GINS4 Synonymous SNV E45E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 298878 chr8 42174359 42174359 G T rs145086380 IKBKB Synonymous SNV L352L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.546 298879 chr19 55871054 55871054 C A rs756168423 FAM71E2 Synonymous SNV P394P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 298880 chr9 138516386 138516386 G A rs771898457 GLT6D1 Stop gain R130X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298881 chr17 81009615 81009615 C T B3GNTL1 Nonsynonymous SNV V20M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 298882 chr19 56125593 56125593 C T ZNF865 Synonymous SNV C203C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 298883 chr17 8784055 8784055 T C PIK3R5 Synonymous SNV S462S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 298884 chr18 10487822 10487822 C A rs200082076 APCDD1 Nonsynonymous SNV S444R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 298885 chr8 68007865 68007865 A G rs377496424 CSPP1 Nonsynonymous SNV H247R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.273 298886 chr9 140001743 140001743 C A rs774579438 MAN1B1 Synonymous SNV G536G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 298887 chr19 57327294 57327296 ACT - rs779117157 PEG3 V684del 0.001 0 0 0 1 0 0 0 0 0 0 0 298888 chr9 15874608 15874608 G T CCDC171 Stop gain E1191X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 298889 chr19 52919411 52919411 C T ZNF528 Nonsynonymous SNV P436S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 298890 chr8 9413580 9413580 C T rs746507613 TNKS Nonsynonymous SNV T44I 0.003 0 0 0 4 0 0 0 0 0 0 0 22.8 298891 chr7 6505907 6505907 C T rs372979976 KDELR2 Synonymous SNV P133P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.44 298892 chr19 58926946 58926946 G A rs372304121 ZNF584 Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.704 298893 chr7 73183767 73183767 C T rs782121496 CLDN3 Nonsynonymous SNV G205S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 298894 chr18 346782 346782 G A rs370741108 COLEC12 Synonymous SNV N280N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.227 298895 chr9 33675813 33675813 G A PTENP1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.08 298896 chr18 43467802 43467802 T C rs200776693 EPG5 Nonsynonymous SNV T1675A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.5 298897 chr20 3236709 3236709 G A rs754781920 C20orf194 Synonymous SNV I1068I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 298898 chr9 131403095 131403095 C T rs574651942 WDR34 Nonsynonymous SNV D104N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 298899 chr18 54423974 54423974 C T rs752474965 WDR7 Nonsynonymous SNV P717L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 298900 chr9 131584649 131584649 C T rs55985529 ENDOG Synonymous SNV I218I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 12.61 298901 chr20 3781139 3781139 T A rs368675680 CDC25B Synonymous SNV S87S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.26 298902 chr20 56138231 56138231 G T PCK1 Nonsynonymous SNV R253L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 298903 chr18 5891937 5891937 C A rs75283368 TMEM200C Synonymous SNV V42V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.47 298904 chr18 6956306 6956306 C T LOC101927188 0 0 0.003 0 0 0 0 1 0 0 0 0 3.424 298905 chr20 20693033 20693033 G A rs988433876 RALGAPA2 Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 298906 chr20 23618362 23618362 C T rs201089355 CST3 Synonymous SNV E46E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 298907 chrUn_gl000220 122128 122128 C A LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 298908 chr9 117827018 117827018 G A rs769746023 TNC Nonsynonymous SNV P1132L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 298909 chrX 11316725 11316725 G A rs371530769 AMELX Nonsynonymous SNV V52M 0 0 0.007 0 0 0 0 2 0 0 1 0 23.2 298910 chr9 124441036 124441036 G C rs373956059 DAB2IP Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.8 298911 chrX 128605236 128605236 C G rs34182579 SMARCA1 Nonsynonymous SNV G825A 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 19.39 298912 chr19 1007866 1007866 C G rs148406831 GRIN3B Nonsynonymous SNV P737R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 298913 chr8 118159389 118159389 G A rs749244005 SLC30A8 Nonsynonymous SNV V90M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 298914 chrX 151123536 151123536 G A GABRE Synonymous SNV A386A 0 0 0.007 0 0 0 0 2 0 0 1 0 5.877 298915 chr20 37169824 37169824 C T rs774880388 RALGAPB Synonymous SNV A901A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 298916 chrX 153220169 153220169 G C HCFC1 Nonsynonymous SNV D1227E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 298917 chr20 43132459 43132459 G C rs200302188 SERINC3 Nonsynonymous SNV S351C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 298918 chr8 27925246 27925246 G C NUGGC Nonsynonymous SNV L166V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 298919 chr19 1397462 1397462 G A rs746633494 GAMT Nonsynonymous SNV R203W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.82 298920 chr21 36042265 36042265 A G CLIC6 Nonsynonymous SNV E193G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.96 298921 chr19 15565547 15565547 G T RASAL3 Nonsynonymous SNV P627T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.137 298922 chr20 58514312 58514312 - CCGCGCCA rs748334915 PPP1R3D Frameshift insertion P226Gfs*116 0.001 0 0 0 1 0 0 0 0 0 0 0 298923 chr9 139256578 139256578 G A rs144760803 DNLZ Synonymous SNV G141G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.573 298924 chr10 111860433 111860433 G A ADD3 Nonsynonymous SNV G8S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 298925 chr9 139370178 139370178 G A rs369229593 SEC16A Synonymous SNV N630N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.438 298926 chr19 18705224 18705224 C A rs763686070 CRLF1 Nonsynonymous SNV G349W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298927 chr19 18882348 18882348 T G CRTC1 Nonsynonymous SNV S473A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 298928 chr19 19766972 19766972 G A rs150620530 ATP13A1 Synonymous SNV S368S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 298929 chr10 116335283 116335283 C T rs776165405 ABLIM1 Nonsynonymous SNV R92Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 298930 chr10 118893755 118893755 C T VAX1 Nonsynonymous SNV G257R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 298931 chr19 2934149 2934149 A T rs369325243 ZNF77 Nonsynonymous SNV C326S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.4 298932 chr20 62592736 62592736 G A rs149002469 ZNF512B Nonsynonymous SNV R785C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 298933 chr8 17533827 17533827 G A MTUS1 Synonymous SNV P4P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.02 298934 chrX 101911940 101911940 A C GPRASP1 Nonsynonymous SNV E1033D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.18 298935 chr9 2087020 2087020 C T SMARCA2 Synonymous SNV C906C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 298936 chr10 129216757 129216757 C T rs185222787 DOCK1 Synonymous SNV N1548N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 298937 chr10 129868576 129868576 G A rs145733690 PTPRE Synonymous SNV T165T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 298938 chr10 133607952 133607952 G T rs184471477 LINC01164 0 0 0.02 0 0 0 0 6 0 0 0 0 0.657 298939 chr8 21986592 21986592 G A rs770494504 HR Nonsynonymous SNV P31L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 298940 chr8 22451377 22451377 C T rs867209430 PDLIM2 Nonsynonymous SNV A338V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 298941 chr19 38853143 38853143 A C rs757106735 CATSPERG Nonsynonymous SNV K722T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.9 298942 chr22 32239781 32239781 C T rs201146392 DEPDC5 Synonymous SNV A850A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.53 298943 chrX 153296382 153296382 G A rs61748423 MECP2 Synonymous SNV T311T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.661 298944 chr9 77415367 77415367 C T TRPM6 Nonsynonymous SNV E676K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 298945 chr21 44838396 44838396 C G SIK1, SIK1B Synonymous SNV T496T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.626 298946 chr10 38241377 38241377 G A rs771371807 ZNF25 Nonsynonymous SNV T350I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 298947 chrX 44091888 44091888 C T rs370389045 EFHC2 Nonsynonymous SNV V487I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 298948 chr9 130430410 130430410 C T rs58889246 STXBP1 Synonymous SNV D282D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.17 298949 chr9 130472880 130472880 G T rs202023603 CFAP157 Nonsynonymous SNV G145V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 298950 chr8 6681102 6681102 C T rs74948931 XKR5 Nonsynonymous SNV R193H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.485 298951 chr9 130536340 130536340 G T rs766990169 SH2D3C Synonymous SNV P148P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.328 298952 chr21 47776888 47776888 G C rs774995221 PCNT 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 298953 chr22 42204993 42204993 G A rs766993759 CCDC134 Synonymous SNV E33E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.43 298954 chr9 130634108 130634108 C T rs372237345 AK1 Synonymous SNV E122E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 298955 chr9 130690399 130690399 C T rs772432808 PIP5KL1 Nonsynonymous SNV G127S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 298956 chr9 130826037 130826037 G A rs138738178 NAIF1 Synonymous SNV L218L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.812 298957 chr9 131402984 131402984 C T WDR34 Nonsynonymous SNV E141K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 298958 chrX 111025173 111025173 C G rs777304323 TRPC5 Nonsynonymous SNV R697T 0.002 0 0 0 2 0 0 0 1 0 0 0 13.36 298959 chr10 61718148 61718186 TATTTGCATCTTTCCCAATTCCTCAGGTTGACAGATCCA - rs771709670 LINC01553 0 0 0.003 0 0 0 0 1 0 0 0 0 298960 chrX 125955310 125955310 C T rs771092259 PRR32 Nonsynonymous SNV P230L 0.002 0 0 0 2 0 0 0 1 0 0 0 23.1 298961 chr10 62038547 62038547 G A rs77316697 ANK3 Synonymous SNV V116V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.71 298962 chr22 19808167 19808167 A G rs142592326 GNB1L Nonsynonymous SNV C70R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 298963 chrX 128614697 128614697 C T rs764422571 SMARCA1 Nonsynonymous SNV R796Q 0.002 0 0 0 2 0 0 0 1 0 0 0 33 298964 chr8 95541493 95541493 G C rs768708790 VIRMA Nonsynonymous SNV P229A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 298965 chr19 45127148 45127148 T C IGSF23 Synonymous SNV C90C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 298966 chrX 130412604 130412604 C T IGSF1 Synonymous SNV L615L 0.002 0 0 0 2 0 0 0 1 0 0 0 5.191 298967 chrX 135328287 135328287 T A rs199677050 MAP7D3 Stop gain K46X 0.002 0 0 0 2 0 0 0 1 0 0 0 35 298968 chrX 139586919 139586919 G T rs201101913 SOX3 Nonsynonymous SNV P103T 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.152 298969 chr9 136338614 136338614 - C rs782105767 SLC2A6 Frameshift insertion D382Gfs*42 0.001 0.003 0 0 1 1 0 0 0 0 0 0 298970 chr10 72061241 72061241 C G rs116808853 LRRC20 Nonsynonymous SNV A92P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 298971 chr10 73051510 73051510 G A rs142597083 UNC5B Nonsynonymous SNV R528Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 298972 chrX 153043531 153043531 C T rs781784671 PLXNB3 Nonsynonymous SNV S1797L 0.002 0 0 0 2 0 0 0 1 0 0 0 33 298973 chr22 23596134 23596134 G A rs139201536 BCR Synonymous SNV A476A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.51 298974 chrX 153589877 153589877 G T rs782396211 FLNA Synonymous SNV G1002G 0.002 0 0 0 2 0 0 0 1 0 0 0 7.401 298975 chr22 24581792 24581792 G A rs374550310 SUSD2 Nonsynonymous SNV D412N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 298976 chr22 24837243 24837243 C T rs201448773 ADORA2A Nonsynonymous SNV P342L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 298977 chr21 34922643 34922643 C T rs540447388 SON Nonsynonymous SNV A369V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 298978 chr10 79581573 79581573 C T rs186397140 DLG5 Nonsynonymous SNV R890H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 298979 chr21 37736500 37736500 C T MORC3 Nonsynonymous SNV A450V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.32 298980 chrX 41201759 41201759 G A DDX3X Nonsynonymous SNV R83H 0.002 0 0 0 2 0 0 0 1 0 0 0 23 298981 chr22 31032926 31032926 G T rs199715618 SLC35E4 Nonsynonymous SNV Q163H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 298982 chr10 123843257 123843257 G C rs200855604 TACC2 Nonsynonymous SNV E414D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.097 298983 chr22 35661399 35661404 TCCAAG - rs975232457 HMGXB4 S233_K234del 0.001 0 0 0 1 0 0 0 0 0 0 0 298984 chr10 126631284 126631284 A G rs764551046 ZRANB1 Synonymous SNV P74P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.55 298985 chr19 51452193 51452193 T C rs2232534 KLK5 Nonsynonymous SNV I172V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 298986 chr10 99655723 99655723 G A rs145632263 CRTAC1 Synonymous SNV F412F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 298987 chr10 105762909 105762909 C G rs56400929 SLK Nonsynonymous SNV A658G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 298988 chr19 52097451 52097451 C T rs760969005 LINC01530 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 298989 chr9 35044246 35044246 A C rs144763622 C9orf131 Nonsynonymous SNV E505D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 298990 chr9 4118682 4118682 A G rs930364564 GLIS3 Nonsynonymous SNV S111P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 298991 chr19 53116811 53116811 C T rs17855778 ZNF83 Stop gain W336X 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.7 298992 chr10 117823915 117823915 T C rs374020279 GFRA1 Synonymous SNV T343T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.196 298993 chr10 122664265 122664265 C G WDR11 Synonymous SNV P1045P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 298994 chr10 121140407 121140407 C T GRK5 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 298995 chr19 56028903 56028903 C A SSC5D Stop gain S1087X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 298996 chr10 102238812 102238812 G A rs376921131 WNT8B Synonymous SNV S24S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.47 298997 chr9 990520 990520 C T rs117758829 DMRT3 Nonsynonymous SNV H312Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 298998 chr11 117279714 117279714 C T rs745898523 CEP164 Nonsynonymous SNV P1243S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 298999 chr11 118352769 118352769 G A rs149404438 KMT2A Nonsynonymous SNV S1325N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.35 299000 chr10 17110171 17110171 T C rs746773376 CUBN Nonsynonymous SNV N967S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.362 299001 chrX 44703940 44703940 A G rs144899652 DUSP21 Nonsynonymous SNV I188V 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 299002 chrX 129147108 129147108 C T rs41299086 BCORL1 Synonymous SNV D120D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.48 299003 chr10 31815660 31815660 T C rs761453640 ZEB1 Nonsynonymous SNV I874T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 299004 chr10 64966862 64966862 T A rs183013953 JMJD1C Nonsynonymous SNV I1304F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.539 299005 chr19 7808070 7808070 G A rs368570264 CD209 Nonsynonymous SNV A221V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 299006 chr9 2834048 2834048 C T rs781340473 PUM3 Nonsynonymous SNV M141I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 299007 chr10 43701466 43701466 G A rs749518074 RASGEF1A Synonymous SNV G41G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.019 299008 chr11 129746707 129746707 G A rs2229650 NFRKB Synonymous SNV G577G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 299009 chr11 130332143 130332143 G A rs144157651 ADAMTS15 Nonsynonymous SNV G418R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 299010 chrX 153583050 153583050 C T FLNA Synonymous SNV Q1741Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.665 299011 chrX 153674848 153674848 G A rs782456795 FAM50A Nonsynonymous SNV E128K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 299012 chrX 153707076 153707076 G A rs11538409 LAGE3 Nonsynonymous SNV P60L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 11.02 299013 chr10 73461962 73461962 A G rs764615920 CDH23 Nonsynonymous SNV T861A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.09 299014 chr10 73475748 73475748 G A rs114813838 C10orf105 Nonsynonymous SNV P116L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 299015 chr10 50530692 50530692 C G C10orf71 Nonsynonymous SNV D34E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 299016 chr11 1950368 1950368 C T rs757234740 TNNT3 Nonsynonymous SNV A30V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.338 299017 chr1 1222509 1222509 C T rs146631827 SCNN1D Synonymous SNV D380D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.153 299018 chr1 10684426 10684426 G T rs200019568 PEX14 Nonsynonymous SNV V173F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 26 299019 chr9 79322947 79322947 C T rs762682686 PRUNE2 Nonsynonymous SNV V1415M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.86 299020 chr10 93170204 93170204 G A HECTD2 Synonymous SNV E3E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 299021 chr10 93749010 93749010 A G BTAF1 Nonsynonymous SNV T843A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.035 299022 chr1 1103284 1103284 C T rs202051309 MIR200A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 299023 chr1 3544154 3544154 C T rs74048685 TPRG1L Synonymous SNV P187P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.28 299024 chr10 98762476 98762476 G A rs747690334 SLIT1 Nonsynonymous SNV P1380L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 299025 chr11 3721920 3721920 A G NUP98 Nonsynonymous SNV V1174A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.279 299026 chr10 7621865 7621865 C T rs763021116 ITIH5 Nonsynonymous SNV R210Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 299027 chr10 7621921 7621921 C T rs112675855 ITIH5 Synonymous SNV T191T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 299028 chr1 116202267 116202267 G A rs143990097 VANGL1 Nonsynonymous SNV R26K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 299029 chr1 116206351 116206351 A G rs143196463 VANGL1 Nonsynonymous SNV I90V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.925 299030 chr10 85992585 85992585 C T rs369831951 LRIT1 Nonsynonymous SNV G324R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 299031 chr10 87362204 87362204 C T rs200390116 GRID1 Synonymous SNV P952P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 299032 chr11 47833929 47833929 T C rs144811467 NUP160 Nonsynonymous SNV I669V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 299033 chr10 91484779 91484779 A C rs146858896 KIF20B Nonsynonymous SNV E622A 0.001 0 0 0 1 0 0 0 0 0 0 0 27 299034 chrX 152585996 152585996 C T PNMA6F Nonsynonymous SNV R46Q 0 0 0 2 0 0 0.005 0 0 0 0 1 13.38 299035 chr1 16460039 16460039 C A rs1039125105 EPHA2 Nonsynonymous SNV V547L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 299036 chr10 96163035 96163035 G A rs755075462 TBC1D12 Nonsynonymous SNV S222N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.097 299037 chr10 97966777 97966777 A C rs374762276 BLNK Nonsynonymous SNV S164R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.028 299038 chr10 99350151 99350151 A G rs750889147 C10orf62 Nonsynonymous SNV E166G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299039 chr10 99968734 99968734 G A R3HCC1L Nonsynonymous SNV S288N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 299040 chr1 19482049 19482049 A G rs749662823 UBR4 Synonymous SNV V2062V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.687 299041 chrX 153295839 153295839 G A rs782677867 MECP2 Synonymous SNV P492P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.463 299042 chr11 1093543 1093543 A C MUC2 Nonsynonymous SNV T1788P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 299043 chrX 154317627 154317627 G A BRCC3 0 0.003 0 0 0 1 0 0 0 0 0 0 23 299044 chr1 153635528 153635528 A G rs773548488 ILF2 Synonymous SNV F258F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.101 299045 chr1 22843853 22843853 G T ZBTB40 Nonsynonymous SNV R798L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 299046 chr1 22843856 22843856 A T ZBTB40 Nonsynonymous SNV H799L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 299047 chr1 155170988 155170988 A G rs780676870 THBS3 Nonsynonymous SNV V326A 0 0 0.003 0 0 0 0 1 0 0 0 0 26 299048 chrX 53246330 53246330 G A rs782076366 KDM5C Nonsynonymous SNV P151S 0 0 0 2 0 0 0.005 0 0 0 0 1 16.32 299049 chr1 156145407 156145407 C A rs757466000 SEMA4A Synonymous SNV P419P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.73 299050 chr10 105178387 105178387 G A rs767573450 PDCD11 Nonsynonymous SNV R701H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.8 299051 chrX 75004280 75004280 G A rs371871303 MAGEE2 Synonymous SNV L203L 0.002 0 0 2 2 0 0.005 0 1 0 0 1 0.143 299052 chr1 158549222 158549222 T A rs139198702 OR10X1 Synonymous SNV V156V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.604 299053 chr11 104912292 104912292 T C CARD16 Synonymous SNV R143R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.052 299054 chr11 104915139 104915139 T C rs1126876 CARD16 Nonsynonymous SNV E85G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.013 299055 chr10 87898743 87898743 G A rs139636505 GRID1 Nonsynonymous SNV R187W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 299056 chr10 90682094 90682094 C T rs750516414 STAMBPL1 Synonymous SNV D385D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.27 299057 chr11 125780267 125780267 C T rs752145482 DDX25 Synonymous SNV C58C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.82 299058 chr1 168698208 168698208 A T rs143980534 DPT Nonsynonymous SNV S69T 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 18.35 299059 chr1 169521842 169521842 C T F5 Nonsynonymous SNV G417R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 299060 chr10 118969418 118969418 G A rs3026042 KCNK18 Nonsynonymous SNV E255K 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 299061 chr1 171506572 171506572 G A rs766738157 PRRC2C Nonsynonymous SNV A820T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 299062 chr11 118134867 118134867 A G rs371798268 MPZL2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 299063 chr11 118962147 118962147 C T rs756417575 HMBS Nonsynonymous SNV R175W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 299064 chr1 45293853 45293853 C A rs779477101 PTCH2 Nonsynonymous SNV A574S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.223 299065 chr10 123847321 123847321 C T rs778553198 TACC2 Nonsynonymous SNV P1769L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.447 299066 chr11 121384955 121384955 G A SORL1 Nonsynonymous SNV G379E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 299067 chr11 62290606 62290606 G A rs558987797 AHNAK Synonymous SNV G3761G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.152 299068 chr10 50594566 50594566 C T rs201954478 DRGX Nonsynonymous SNV A162T 0.003 0 0.003 0 3 0 0 1 0 0 0 0 22.7 299069 chr11 63488379 63488379 A T rs774860210 RTN3 Nonsynonymous SNV D690V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 299070 chr10 134161797 134161797 C A LRRC27 Nonsynonymous SNV P161H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 299071 chr11 124793323 124793323 C A HEPACAM Nonsynonymous SNV S239I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 299072 chr1 19175911 19175911 C T rs75594164 TAS1R2 Nonsynonymous SNV S464N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 299073 chr11 22297670 22297670 C T rs774160498 ANO5 Synonymous SNV D814D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.21 299074 chr1 19243446 19243446 C T rs6675316 IFFO2 Nonsynonymous SNV V352I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 299075 chr1 63788977 63788977 A G rs757514754 FOXD3 Nonsynonymous SNV K83R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 299076 chr10 38121831 38121831 G A rs143473555 ZNF248 Nonsynonymous SNV S151L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 299077 chr11 67926293 67926293 C A KMT5B Nonsynonymous SNV G335V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 299078 chr11 17662484 17662484 G A rs766229978 OTOG Nonsynonymous SNV R2691H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.9 299079 chr1 203033024 203033024 G A rs375552062 PPFIA4 Synonymous SNV P972P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 299080 chr1 203708837 203708837 A C ATP2B4 Nonsynonymous SNV K1158T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 299081 chr11 18764959 18764959 G A PTPN5 Synonymous SNV L79L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 299082 chr1 20656862 20656862 G A rs138366154 VWA5B1 Nonsynonymous SNV A482T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 299083 chr11 73361610 73361610 G A rs200815196 PLEKHB1 Nonsynonymous SNV R17H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 299084 chr10 90574346 90574346 C T rs1004040373 LIPM Nonsynonymous SNV T175M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299085 chr11 75140853 75140853 C T KLHL35 Synonymous SNV E274E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.51 299086 chr1 20975047 20975047 T C rs45499398 PINK1 Synonymous SNV D391D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.42 299087 chr11 2950312 2950312 C T rs369089346 PHLDA2 Nonsynonymous SNV A95T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 299088 chr11 76913407 76913407 G A rs773872608 MYO7A Synonymous SNV T1702T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 299089 chr1 21050982 21050982 C T rs61745432 SH2D5 Synonymous SNV V95V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 299090 chr11 77051802 77051802 G A rs114957769 PAK1 Synonymous SNV L335L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 299091 chr10 49944024 49944024 C T WDFY4 Nonsynonymous SNV A596V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.5 299092 chr10 61552762 61552762 - GGAGGT rs575393361 CCDC6 P448_M449insPP 0.002 0 0 0 2 0 0 0 0 0 0 0 299093 chr1 21586862 21586862 C T rs147475863 ECE1 Nonsynonymous SNV E161K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.7 299094 chr10 50533578 50533578 A G rs755904916 C10orf71 Synonymous SNV A996A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.094 299095 chr1 220869990 220869990 G A rs112837785 C1orf115 Nonsynonymous SNV V116M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 299096 chr11 82973005 82973005 G A rs756705026 CCDC90B Nonsynonymous SNV S123L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 299097 chr10 5435975 5435975 G A rs142943186 TUBAL3 Synonymous SNV I242I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.73 299098 chr11 35684963 35684980 GAGGAAGAGAGCGAGTCA - rs544332643 TRIM44 S107_E112del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 299099 chr10 70139220 70139220 G T RUFY2 Nonsynonymous SNV T355N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 299100 chr11 44940818 44940818 C T rs747539172 TSPAN18 Synonymous SNV N129N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 299101 chr1 223396738 223396738 C T rs202158117 SUSD4 Nonsynonymous SNV V433I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 299102 chr11 88258502 88258510 TCCCCATAC - GRM5 S898_G900del 0 0 0.003 0 0 0 0 1 0 0 0 0 299103 chr1 111853092 111853092 G T rs368020028 CHIA Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.84 299104 chr1 111853093 111853093 A T rs766465219 CHIA Nonsynonymous SNV T2S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.147 299105 chr11 46396589 46396589 G A rs375351262 DGKZ Synonymous SNV T545T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 299106 chr11 1017911 1017911 T C rs201763415 MUC6 Synonymous SNV T1630T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 299107 chr11 1017912 1017912 G T rs199910885 MUC6 Nonsynonymous SNV T1630K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.392 299108 chr11 9055196 9055196 G A SCUBE2 Nonsynonymous SNV A562V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 299109 chr11 46920973 46920973 G A LRP4 Nonsynonymous SNV T171I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 299110 chr10 72061130 72061130 C T rs115923383 LRRC20 Nonsynonymous SNV A129T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 299111 chr12 102154987 102154987 T C rs281865007 GNPTAB Nonsynonymous SNV D1018G 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 32 299112 chr1 233507853 233507853 G A rs201787500 MAP3K21 Nonsynonymous SNV S541N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 299113 chr11 10585902 10585902 T C rs372396648 LYVE1 Synonymous SNV S35S 0.003 0 0 0 3 0 0 0 0 0 0 0 0.418 299114 chr1 150789559 150789559 C T rs777761656 ARNT Synonymous SNV A551A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.772 299115 chr11 111179069 111179069 C T COLCA2 Synonymous SNV Y124Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.099 299116 chr11 111583073 111583073 G A rs200358202 SIK2 Nonsynonymous SNV E414K 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 299117 chr1 24123210 24123210 G A rs147618796 GALE Synonymous SNV L258L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.851 299118 chr1 153906764 153906764 G A rs577416893 DENND4B Nonsynonymous SNV R941C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 299119 chr1 154842199 154842199 - GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 299120 chr1 24460721 24460721 C A rs147757191 IL22RA1 Nonsynonymous SNV V171F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 299121 chr12 11214182 11214182 A G rs377226761 TAS2R46 Nonsynonymous SNV C238R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.475 299122 chr12 112194244 112194244 G T rs532624949 ACAD10 Synonymous SNV T1049T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.775 299123 chr1 156646557 156646557 - CGCGGGGCGG NES Frameshift insertion G167Afs*68 0.001 0 0 0 1 0 0 0 0 0 0 0 299124 chr1 157522133 157522133 A G rs139376463 FCRL5 Nonsynonymous SNV L7S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 299125 chr12 121877689 121877689 C T rs782087256 KDM2B Nonsynonymous SNV R1198Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 299126 chr1 158326548 158326548 A G CD1E Synonymous SNV T154T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 299127 chr12 12334248 12334248 C T rs758242097 LRP6 Nonsynonymous SNV D368N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 299128 chr1 159684234 159684234 A T rs760470889 CRP Synonymous SNV S14S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.528 299129 chr1 26190068 26190068 C T rs370095439 PAQR7 Nonsynonymous SNV R88Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 299130 chr12 126942683 126942683 C T rs535455680 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 2.923 299131 chr1 31349506 31349506 G A rs370999937 SDC3 Nonsynonymous SNV R255W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 299132 chr1 33235702 33235702 C T rs772554806 KIAA1522 Nonsynonymous SNV R249W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 299133 chr1 3410601 3410601 C G MEGF6 Nonsynonymous SNV C1406S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 299134 chr11 4824830 4824830 A G rs377477085 OR52R1 Nonsynonymous SNV S261P 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 299135 chr11 101834112 101834112 G C rs765847929 CEP126 Nonsynonymous SNV Q782H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 299136 chr12 2102540 2102540 T C rs959555244 DCP1B Nonsynonymous SNV H70R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 299137 chr11 102589197 102589197 G T rs776959028 MMP8 Synonymous SNV T244T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.818 299138 chr1 36551494 36551494 A G rs146498328 TEKT2 Nonsynonymous SNV I114V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.841 299139 chr1 3753870 3753870 G A CEP104 Nonsynonymous SNV H369Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.328 299140 chr11 6244323 6244323 T C rs140450472 FAM160A2 Nonsynonymous SNV N308S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 299141 chr11 16774372 16774372 A G rs532499578 C11orf58 Synonymous SNV Q83Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.45 299142 chr11 111835285 111835285 G C rs587707665 DIXDC1 Nonsynonymous SNV A24P 0.001 0 0 0 1 0 0 0 0 0 0 0 27 299143 chr1 180904541 180904541 A G rs769651029 KIAA1614 Nonsynonymous SNV N499S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 299144 chr11 108384845 108384845 G T EXPH5 Nonsynonymous SNV S275R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.462 299145 chr12 32135829 32135829 A G rs147359180 RESF1 Nonsynonymous SNV N647S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.648 299146 chr1 43119620 43119620 C T CCDC30 Nonsynonymous SNV S758F 0 0 0.003 0 0 0 0 1 0 0 0 0 28 299147 chr11 1093881 1093881 G A rs374738693 MUC2 Synonymous SNV T1900T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.69 299148 chr11 60150762 60150762 G A rs749930143 MS4A7 0.001 0 0 0 1 0 0 0 0 0 0 0 23 299149 chr11 111746130 111746130 T C rs200674796 FDXACB1 Nonsynonymous SNV D464G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.017 299150 chr11 60531315 60531315 C T rs202159539 MS4A15 Nonsynonymous SNV P37S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.04 299151 chr1 200971325 200971325 T C rs769663553 KIF21B Nonsynonymous SNV M456V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 299152 chr12 48526691 48526691 G A rs779855785 PFKM Nonsynonymous SNV R93Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 299153 chr11 61106838 61106838 C T rs151177803 TKFC Synonymous SNV D139D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 299154 chr11 61595908 61595908 G A rs769992700 FADS2 Nonsynonymous SNV V16M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 299155 chr11 61595934 61595934 G A rs769140389 FADS2 Synonymous SNV E24E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 299156 chr12 49217548 49217548 G A CACNB3 Nonsynonymous SNV V85I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.856 299157 chr12 49317388 49317388 C T FKBP11 0 0 0.003 0 0 0 0 1 0 0 0 0 7.023 299158 chr1 52705025 52705025 G - ZFYVE9 E647Nfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 299159 chr1 53323033 53323033 T C rs76765201 ZYG11A Nonsynonymous SNV L207P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 299160 chr11 61732963 61732963 C T FTH1 Nonsynonymous SNV V47M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 299161 chr11 62558181 62558181 G T TMEM223 Nonsynonymous SNV R175S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299162 chr12 50749712 50749712 G C FAM186A Synonymous SNV L301L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.29 299163 chr11 62397942 62397942 G A rs749238038 GANAB Synonymous SNV D360D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.959 299164 chr12 52712971 52712971 C T rs138611799 KRT83 Nonsynonymous SNV V188M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 299165 chr1 6166820 6166820 C T rs777729655 CHD5 Synonymous SNV E1866E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 299166 chr1 205589015 205589016 GA - rs564227872 ELK4 Q387Sfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 299167 chr11 64034660 64034660 G C rs775703680 PLCB3 Nonsynonymous SNV E1073Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 299168 chr11 6423341 6423341 G A rs146656518 APBB1 Synonymous SNV R231R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 299169 chr12 53008225 53008225 C T rs560166495 KRT73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.114 299170 chr1 208216529 208216529 C T rs764708684 PLXNA2 Synonymous SNV T1298T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 299171 chr12 53452896 53452896 C T rs887233010 TNS2 Nonsynonymous SNV R501W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 299172 chr11 64812128 64812128 C T rs374748039 SAC3D1 Nonsynonymous SNV R336C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 299173 chr11 43940630 43940630 C A rs768167723 ALKBH3 Nonsynonymous SNV P238T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 299174 chr11 124294450 124294450 A G OR8B4 Synonymous SNV F106F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.031 299175 chr11 66102633 66102633 C G RIN1 Nonsynonymous SNV E185Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 299176 chr11 17121488 17121488 G A PIK3C2A Nonsynonymous SNV T966I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 299177 chr11 67048582 67048582 A G GRK2 Nonsynonymous SNV S192G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 299178 chr11 67160234 67160234 G A rs377299831 RAD9A Nonsynonymous SNV R72H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 299179 chr11 67205859 67205859 G A rs377490435 CORO1B Synonymous SNV N486N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 299180 chr11 67079247 67079252 GCAGGG - rs374416427 SSH3 Q630_G631del 0.001 0 0 0 1 0 0 0 0 0 0 0 299181 chr11 67206256 67206256 G A rs367989759 CORO1B Synonymous SNV N410N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 299182 chr1 91403530 91403530 G A rs199759472 ZNF644 Nonsynonymous SNV T1067M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 299183 chr12 662570 662570 A G rs933858790 B4GALNT3 Nonsynonymous SNV N494S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 299184 chr11 132527169 132527169 G A rs777028556 OPCML Synonymous SNV R71R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.931 299185 chr12 6953093 6953093 C T GNB3 Nonsynonymous SNV T216I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 299186 chr11 69950127 69950127 G A rs200898532 ANO1 Nonsynonymous SNV R188H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 299187 chr12 7069887 7069887 G A PTPN6 Nonsynonymous SNV G579R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.218 299188 chr1 94354619 94354619 G A rs775677339 GCLM Nonsynonymous SNV S229L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 299189 chr1 228504651 228504651 C T rs767927126 OBSCN Synonymous SNV R4509R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 299190 chr12 72028607 72028607 - A rs758466466 ZFC3H1 0 0 0.003 0 0 0 0 1 0 0 0 0 299191 chr11 71907048 71907048 A T rs1026331856 FOLR1 Nonsynonymous SNV N201Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 299192 chr11 72537846 72537846 G A rs35740958 ATG16L2 Synonymous SNV E342E 0.003 0 0 0 3 0 0 0 0 0 0 0 9.474 299193 chr12 80717620 80717620 C T rs754094747 OTOGL Nonsynonymous SNV P1391L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 299194 chr1 235969918 235969918 C T rs759526929 LYST Nonsynonymous SNV D840N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 299195 chr1 235972194 235972194 C A LYST Nonsynonymous SNV V642F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.778 299196 chr1 236368552 236368552 - AAGA rs565202568 GPR137B 0.001 0 0.007 0 1 0 0 2 0 0 0 0 299197 chr1 236399118 236399118 C T rs747859263 ERO1B Nonsynonymous SNV R215H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 299198 chr11 3143637 3143637 C T rs201350460 OSBPL5 Nonsynonymous SNV G81R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 299199 chr12 9220445 9220445 T C rs368014203 A2M-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.064 299200 chr11 377166 377166 C G B4GALNT4 Nonsynonymous SNV D681E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 299201 chr20 25371261 25371261 C G ABHD12 Nonsynonymous SNV A27P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.49 299202 chr11 47201866 47201866 G A rs372420691 PACSIN3 Synonymous SNV H158H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.067 299203 chr11 35236448 35236448 A T rs542323203 CD44 Synonymous SNV G239G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.86 299204 chr11 9809196 9809198 TTC - rs572571832 SBF2 E1674del 0.001 0 0 0 1 0 0 0 0 0 0 0 299205 chr12 100042182 100042182 - C rs534181485 FAM71C Frameshift insertion C79Lfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 299206 chr12 102437888 102437888 G A rs748588154 WASHC3 Nonsynonymous SNV P107S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 299207 chr11 64663944 64663944 T C ATG2A Nonsynonymous SNV Q1798R 0.001 0.005 0 0 1 2 0 0 0 0 0 0 19.27 299208 chr12 104144464 104144464 T C rs11833263 STAB2 Synonymous SNV H2182H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.007 299209 chr11 45958060 45958060 T C PHF21A Nonsynonymous SNV I556V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 299210 chr11 46394595 46394595 G A rs141331800 DGKZ Nonsynonymous SNV A401T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 299211 chr11 46691006 46691006 A G rs371908542 ATG13 Nonsynonymous SNV Y351C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.7 299212 chr13 31735624 31735624 G A rs149981680 HSPH1 Synonymous SNV D32D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.688 299213 chr11 65306922 65306922 T C LTBP3 Nonsynonymous SNV S1049G 0.001 0.005 0 0 1 2 0 0 0 0 0 0 21.8 299214 chr13 32355814 32355814 G A rs150072413 RXFP2 Synonymous SNV L264L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.999 299215 chr20 42194978 42194978 G A rs762487799 SGK2 Nonsynonymous SNV G8D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 299216 chr12 109671587 109671587 G A rs528800239 ACACB Nonsynonymous SNV V1392M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 299217 chr13 45148476 45148476 G C rs747365237 TSC22D1 Nonsynonymous SNV P579A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 299218 chr20 44640908 44640908 C T rs202242171 MMP9 Nonsynonymous SNV S377L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 299219 chr11 66101630 66101630 G A rs753355378 RIN1 Nonsynonymous SNV R423C 0.001 0.005 0 0 1 2 0 0 0 0 0 0 25.8 299220 chr11 5153499 5153499 T C rs149098448 OR52A5 Nonsynonymous SNV Y125C 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 22.6 299221 chr13 49086981 49086981 C T RCBTB2 Nonsynonymous SNV G110R 0 0 0.007 0 0 0 0 2 0 0 0 0 27.4 299222 chr12 112605167 112605167 T C rs189667513 HECTD4 Nonsynonymous SNV Q4173R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 299223 chr12 113447045 113447045 G A rs138533307 OAS2 Synonymous SNV P683P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.228 299224 chr13 51594543 51594543 C T rs115572093 GUCY1B2 0 0 0.014 0 0 0 0 4 0 0 1 0 12.9 299225 chr2 26538544 26538544 G T ADGRF3 Synonymous SNV L187L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 299226 chr12 120741684 120741684 C T rs145385123 SIRT4 Nonsynonymous SNV A107V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 299227 chr20 58467645 58467645 C T rs377052965 SYCP2 Synonymous SNV S635S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 299228 chr20 60889928 60889928 G A rs757632801 LAMA5 Nonsynonymous SNV A2708V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 299229 chr11 73019577 73019577 C G rs145032281 LOC100287837 0 0.003 0 0 0 1 0 0 0 0 0 0 8.336 299230 chr2 33447153 33447153 A G rs758344165 LTBP1 Nonsynonymous SNV H278R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.24 299231 chr11 6221168 6221168 C G rs201841977 OR52W1 Nonsynonymous SNV H239D 0.003 0 0 0 3 0 0 0 0 0 0 0 5.493 299232 chr11 75153470 75153470 G A rs140233225 GDPD5 Nonsynonymous SNV R231C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 299233 chr2 42886920 42886920 C G MTA3 Nonsynonymous SNV A151G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 299234 chr12 130184839 130184839 C T rs149686713 TMEM132D Nonsynonymous SNV G162R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.946 299235 chr20 62326467 62326467 C T rs372852392 RTEL1 Nonsynonymous SNV T908M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.94 299236 chr20 62587706 62587706 C T rs201061150 UCKL1 Nonsynonymous SNV R7H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 299237 chr20 644979 644979 G A rs772346976 SCRT2 Nonsynonymous SNV P87L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 299238 chr14 20692067 20692067 G A rs758197960 OR11H6 Nonsynonymous SNV V67M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 299239 chr14 21109757 21109757 C A rs572970311 OR6S1 Nonsynonymous SNV V32L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 299240 chr21 33687252 33687252 C T rs867061792 URB1 Nonsynonymous SNV A2265T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.982 299241 chr12 49221417 49221417 G A rs374969801 CACNB3 Nonsynonymous SNV R356Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 299242 chr2 71012663 71012663 C T rs782050777 FIGLA Nonsynonymous SNV G165S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.42 299243 chr2 71062722 71062722 G A rs76024692 CD207 Synonymous SNV S30S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.386 299244 chr12 27180322 27180322 A C rs777459020 MED21 Nonsynonymous SNV K66N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 299245 chr11 95512792 95512792 G C FAM76B Nonsynonymous SNV S224C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.9 299246 chr12 27869288 27869288 C T rs1025728344 MRPS35 Nonsynonymous SNV A73V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299247 chr21 40694893 40694893 A G BRWD1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.196 299248 chr2 73520442 73520442 G A EGR4 Nonsynonymous SNV L2F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 299249 chr12 2997303 2997303 T G rs139680365 RHNO1 Nonsynonymous SNV L132R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 299250 chr12 3046797 3046797 G C rs150642906 TULP3 Nonsynonymous SNV E309Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.8 299251 chr12 31116850 31116850 C T rs111830542 TSPAN11 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 299252 chr14 33684754 33684754 T G NPAS3 Nonsynonymous SNV W103G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.65 299253 chr12 42499817 42499817 - TT GXYLT1 Frameshift insertion L192Nfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 299254 chr12 42499825 42499825 A C rs76034661 GXYLT1 Nonsynonymous SNV I189S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 299255 chr12 42499826 42499826 T C rs75241273 GXYLT1 Nonsynonymous SNV I189V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.552 299256 chr12 43886324 43886324 C T ADAMTS20 Nonsynonymous SNV A354T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 299257 chr11 7059821 7059821 G A NLRP14 Nonsynonymous SNV A2T 0.003 0 0 0 3 0 0 0 0 0 0 0 1.138 299258 chr21 46925286 46925286 G A rs1057518766 COL18A1 Nonsynonymous SNV G1187S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 24.8 299259 chr2 98419156 98419156 G A rs374617299 TMEM131 Nonsynonymous SNV R834W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 299260 chr12 48888664 48888664 G A rs759358040 C12orf54 Nonsynonymous SNV R109H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.143 299261 chr11 607594 607594 G A rs758747415 PHRF1 Nonsynonymous SNV R713Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 299262 chr12 49054257 49054257 G A rs763820416 KANSL2 Synonymous SNV P373P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.7 299263 chr11 74883494 74883494 C T rs141068938 SLCO2B1 Synonymous SNV A140A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.31 299264 chr12 49435133 49435133 G A rs753607063 KMT2D Synonymous SNV D2140D 0.002 0 0 0 2 0 0 0 0 0 0 0 2.91 299265 chr21 47855959 47855959 C T rs200044004 PCNT Nonsynonymous SNV A2768V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.281 299266 chr12 49397631 49397631 A G rs202086408 PRKAG1 Synonymous SNV I213I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.582 299267 chr22 19978218 19978218 G A rs116782322 ARVCF Nonsynonymous SNV R34W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 29.7 299268 chr22 20194339 20194339 C T LINC00896 0 0 0.003 0 0 0 0 1 0 0 0 0 5.894 299269 chr14 65236407 65236407 C T rs370190815 SPTB Synonymous SNV Q1946Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 299270 chr22 21333605 21333605 G C rs61356271 AIFM3 Nonsynonymous SNV S508T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.129 299271 chr11 59271239 59271239 G A rs145476608 OR4D11 Nonsynonymous SNV R64H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.36 299272 chr22 21800146 21800146 C T rs767416481 HIC2 Nonsynonymous SNV A321V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.763 299273 chr11 59560645 59560645 G A rs576991 STX3 Synonymous SNV G180G 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.15 299274 chr11 59573957 59573957 G A rs491671 MRPL16 Nonsynonymous SNV R207C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.4 299275 chr11 804166 804166 G A rs777560766 PIDD1 Nonsynonymous SNV P75S 0.003 0 0 0 3 0 0 0 0 0 0 0 23.5 299276 chr12 52631315 52631315 C T rs761499484 KRT7 Nonsynonymous SNV R187C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 299277 chr22 22380066 22380066 T G rs424530 PRAMENP 0 0 0.007 0 0 0 0 2 0 0 1 0 4.24 299278 chr14 75264595 75264595 A G rs557213350 YLPM1 Synonymous SNV P865P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 299279 chr22 22906156 22906156 C T LL22NC03-63E9.3 0 0 0.003 0 0 0 0 1 0 0 0 0 7.97 299280 chr22 24121441 24121441 C T rs142328740 MMP11 Nonsynonymous SNV P59L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.199 299281 chr22 24717643 24717643 T C rs760652416 SPECC1L Nonsynonymous SNV M232T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 299282 chr14 78184670 78184670 A C rs142469338 SNW1 Synonymous SNV G484G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.153 299283 chr11 61913144 61913144 C T rs116462742 INCENP Nonsynonymous SNV A623V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 21.6 299284 chr12 54757285 54757285 T C rs766238288 GPR84 Synonymous SNV G117G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 299285 chr11 62293030 62293030 C T rs376675227 AHNAK Nonsynonymous SNV M2953I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.4 299286 chr11 65384944 65384944 C G rs117226025 PCNX3 Nonsynonymous SNV L149V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.096 299287 chr11 65385573 65385573 A G rs201318759 PCNX3 Nonsynonymous SNV Q247R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 299288 chr11 6239125 6239125 C T rs141687987 FAM160A2 Nonsynonymous SNV R564H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.21 299289 chr2 135630204 135630204 T - ACMSD I223Kfs*16 0.001 0 0 1 1 0 0.003 0 0 0 0 0 299290 chr11 62591966 62591966 G A rs151282302 STX5 Nonsynonymous SNV R251W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.6 299291 chr12 129178383 129178383 C T TMEM132C Nonsynonymous SNV R487C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.4 299292 chr12 56873618 56873618 C T rs142066790 GLS2 Nonsynonymous SNV R117H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.59 299293 chr12 57538639 57538639 C T rs767257881 LRP1-AS 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.08 299294 chr12 133150921 133150921 G A rs745652513 FBRSL1 Nonsynonymous SNV R534Q 0 0.005 0 0 0 2 0 0 0 0 0 0 23.3 299295 chr11 67220003 67220003 G A rs200589652 GPR152 Nonsynonymous SNV R65C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 299296 chr15 22969241 22969241 G A rs746822338 CYFIP1 Nonsynonymous SNV A392T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 299297 chr15 23086365 23086373 GCCGCCGCC - rs755160902 NIPA1 A14_A16del 0 0 0.003 0 0 0 0 1 0 0 0 0 299298 chr11 64875882 64875882 C T rs138904279 VPS51 Synonymous SNV G313G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.25 299299 chr2 163083045 163083045 T C rs370535996 FAP Nonsynonymous SNV N60D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 299300 chr11 65293742 65293742 C T rs573532447 SCYL1 Nonsynonymous SNV R175C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.55 299301 chr11 65373305 65373305 G A rs761401595 MAP3K11 Synonymous SNV D586D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 299302 chr15 34153333 34153333 G A RYR3 Nonsynonymous SNV G4802S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 299303 chr12 66725027 66725027 C T rs546363211 HELB Stop gain R922X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 299304 chr12 69967912 69967912 T C FRS2 Nonsynonymous SNV I235T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 299305 chr13 101277812 101277812 A C rs759197273 TMTC4 Nonsynonymous SNV C475G 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 299306 chr22 46931040 46931040 C T CELSR1 Synonymous SNV T676T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 299307 chr12 85677480 85677480 T A rs141779263 ALX1 Synonymous SNV L119L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.47 299308 chr15 43653615 43653615 A G rs187725072 ZSCAN29 Nonsynonymous SNV C739R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 299309 chr15 43814106 43814106 T C rs754582035 MAP1A Synonymous SNV L145L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 299310 chr15 43821166 43821166 C A rs773630777 MAP1A Nonsynonymous SNV P2499T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 299311 chr15 52534309 52534309 C A rs764763786 MYO5C Nonsynonymous SNV R831L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 299312 chr2 186669376 186669376 C A FSIP2 Nonsynonymous SNV H5115N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.488 299313 chr12 992563 992563 G A rs778613425 WNK1 Synonymous SNV V917V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.13 299314 chr2 188349567 188349567 T C TFPI Nonsynonymous SNV E169G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 299315 chr2 113417110 113417110 C T SLC20A1 Stop gain R460X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 299316 chr2 196709880 196709880 T A rs756949033 DNAH7 Stop gain K2931X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 299317 chr15 58855748 58855748 C T rs113298164 LIPC Nonsynonymous SNV T405M 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 24.6 299318 chr11 74915512 74915512 C T rs371452720 SLCO2B1 Synonymous SNV L529L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 299319 chr2 118864319 118864319 G A rs929791865 INSIG2 Nonsynonymous SNV D18N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 299320 chr2 121223366 121223366 C T rs556957929 LINC01101 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 299321 chr2 125281959 125281959 T A rs533995937 CNTNAP5 Nonsynonymous SNV D469E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 299322 chr13 19751400 19751400 G A rs373509437 TUBA3C Synonymous SNV S241S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.363 299323 chr2 131672971 131672971 - GA ARHGEF4 Frameshift insertion T488Rfs*54 0 0 0.003 0 0 0 0 1 0 0 0 0 299324 chr2 135625118 135625118 - CTCT rs768198259 CCNT2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 299325 chr15 74487715 74487715 G A rs563498564 STRA6 Synonymous SNV L175L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 299326 chr13 26620941 26620941 T C SHISA2 Nonsynonymous SNV T200A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 299327 chr13 27847491 27847491 A G rs144256456 RASL11A Nonsynonymous SNV S155G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.129 299328 chr2 218682759 218682759 G C TNS1 Synonymous SNV T1307T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.357 299329 chr12 112228336 112228336 C T rs138201631 ALDH2 Synonymous SNV T170T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 299330 chr15 80215792 80215792 A - rs767104222 ST20-AS1, ST20 0 0 0.003 0 0 0 0 1 0 0 0 0 299331 chr13 31843365 31843365 T C B3GLCT Nonsynonymous SNV L204P 0.002 0 0 0 2 0 0 0 0 0 0 0 31 299332 chr2 219362763 219362763 G C rs202190835 USP37 Synonymous SNV L381L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.766 299333 chr2 160242916 160242916 A C BAZ2B Nonsynonymous SNV V1104G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 299334 chr2 219557354 219557354 C G STK36 Nonsynonymous SNV P655R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 299335 chr13 42460961 42460961 T C rs755511434 VWA8 Synonymous SNV Q274Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.543 299336 chr2 168110647 168110647 C T rs267598989 XIRP2 Stop gain R206X 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 299337 chr12 101017690 101017690 C T rs149531123 GAS2L3 Synonymous SNV V369V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.51 299338 chr15 90185591 90185591 C T rs151317163 KIF7 Nonsynonymous SNV R746Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21 299339 chr13 75936314 75936314 G A TBC1D4 Stop gain Q310X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 299340 chr12 10568361 10568361 C G KLRC3 Nonsynonymous SNV C207S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 299341 chr13 77745655 77745655 G A rs758077538 MYCBP2 Synonymous SNV D1922D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.543 299342 chr13 70549914 70549914 G A KLHL1 Nonsynonymous SNV S173L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 299343 chr15 90764871 90764871 C T rs746149936 SEMA4B Nonsynonymous SNV T168I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 299344 chr2 179430224 179430224 G T rs79926414 TTN Nonsynonymous SNV Q17814K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.81 299345 chr2 179447787 179447787 G T rs62618736 TTN Nonsynonymous SNV Q12850K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.98 299346 chr2 179485684 179485684 C T rs548035065 TTN Nonsynonymous SNV R6153Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 299347 chr13 99361872 99361872 C T rs747795371 SLC15A1 Nonsynonymous SNV D341N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 299348 chr2 179594590 179594590 T A rs66523653 TTN Synonymous SNV T4886T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.922 299349 chr12 70274071 70274071 G A rs138901473 MYRFL Synonymous SNV P185P 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 14.46 299350 chr12 110350874 110350874 C T rs148581914 TCHP Synonymous SNV S377S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.33 299351 chr2 180308010 180308010 G A rs35165565 ZNF385B Synonymous SNV A329A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.086 299352 chr2 180409632 180409632 A T rs149531050 ZNF385B Synonymous SNV P30P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.732 299353 chr14 103932040 103932040 T C rs749901540 MARK3 Synonymous SNV Y229Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 299354 chr14 102605607 102605607 G C rs146442044 HSP90AA1 Synonymous SNV S45S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.25 299355 chr14 102606519 102606519 C A rs375338308 WDR20 Synonymous SNV R87R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 299356 chr14 104633296 104633296 G A rs530587822 KIF26A Nonsynonymous SNV G342R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 299357 chr12 113614646 113614646 G A rs539428532 DDX54 Nonsynonymous SNV R251W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 299358 chr14 103988642 103988642 G A rs765404911 CKB Synonymous SNV N63N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.736 299359 chr12 117665391 117665391 A G NOS1 Nonsynonymous SNV V818A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22 299360 chr14 23992955 23992955 G A rs750885083 ZFHX2 Nonsynonymous SNV R2066W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 299361 chr14 105685375 105685375 A G BRF1 Nonsynonymous SNV I254T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 299362 chr14 105722810 105722810 G C rs763544064 BRF1 Nonsynonymous SNV D172E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.524 299363 chr16 1576678 1576678 T C rs762191941 IFT140 Nonsynonymous SNV E840G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 299364 chr2 196852887 196852887 C T rs140508684 DNAH7 Nonsynonymous SNV E474K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.176 299365 chr2 241420451 241420451 G A rs143356556 ANKMY1 Synonymous SNV C673C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.489 299366 chr2 202245434 202245434 C G rs775803947 TRAK2 Nonsynonymous SNV Q859H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.902 299367 chr12 122396295 122396295 A G rs371093636 WDR66 Synonymous SNV P616P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.145 299368 chr12 26572040 26572040 G A rs372121234 ITPR2 Nonsynonymous SNV A2351V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 299369 chr2 206605378 206605378 C T rs139711818 NRP2 Nonsynonymous SNV R428W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 299370 chr3 4355188 4355188 G A rs780942634 SETMAR Nonsynonymous SNV E255K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 299371 chr16 21093013 21093013 G A rs111401762 DNAH3 Synonymous SNV T925T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 299372 chr16 2114359 2114359 G C TSC2 Nonsynonymous SNV Q310H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 299373 chr12 12940035 12940035 G A rs780563144 APOLD1 Nonsynonymous SNV G97S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 299374 chr12 132335613 132335613 G A rs141860065 MMP17 Nonsynonymous SNV V536M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.081 299375 chr3 11600045 11600045 G A rs751466054 VGLL4 Synonymous SNV P206P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.04 299376 chr12 46589966 46589966 G A rs541687865 SLC38A1 Nonsynonymous SNV R486C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.101 299377 chr3 13670512 13670512 G A FBLN2 Nonsynonymous SNV G846S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 299378 chr2 220085897 220085897 C G rs377367353 ATG9A Nonsynonymous SNV R758P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 299379 chr2 220087417 220087417 G A rs373678234 ATG9A Nonsynonymous SNV P600S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 299380 chr14 33243071 33243071 G A rs767206700 AKAP6 Nonsynonymous SNV R1187H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 299381 chr14 35055442 35055442 A G rs766087482 SNX6 Nonsynonymous SNV I226T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 299382 chr12 21459861 21459861 T C rs764329847 SLCO1A2 Nonsynonymous SNV M133V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.817 299383 chr12 7864237 7864237 G C DPPA3 Nonsynonymous SNV R24P 0.003 0 0 0 3 0 0 0 0 0 0 0 3.941 299384 chr12 27461308 27461308 A G STK38L Nonsynonymous SNV T75A 0 0 0 1 0 0 0.003 0 0 0 0 0 24 299385 chr16 3304293 3304293 T C rs104895144 MEFV Nonsynonymous SNV I259V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 299386 chr3 38043191 38043191 A T rs776317993 VILL 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 299387 chr3 38616876 38616876 C T rs41261344 SCN5A Nonsynonymous SNV R1139Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.8 299388 chr16 4638208 4638208 T C rs774934156 C16orf96 Nonsynonymous SNV V823A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 299389 chr12 369178 369178 G A rs200173207 SLC6A13 Nonsynonymous SNV T14I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.679 299390 chr16 4934466 4934466 G T rs139894677 PPL Nonsynonymous SNV T1397N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.011 299391 chr16 4940782 4940782 C G rs148583452 PPL Nonsynonymous SNV E703D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 299392 chr16 50745657 50745657 C T rs104895439 NOD2 Nonsynonymous SNV A585V 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 24.1 299393 chr16 50840707 50840707 G A rs573879782 LINC02168 0 0 0.003 0 0 0 0 1 0 0 0 0 0.864 299394 chr16 53320238 53320238 G A rs772258753 CHD9 Synonymous SNV A1724A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.8 299395 chr14 61789026 61789026 C T PRKCH Synonymous SNV N69N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 299396 chr14 64488036 64488036 A G rs189676187 SYNE2 Nonsynonymous SNV M1719V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 299397 chr3 43122685 43122685 C T rs146511234 POMGNT2 Nonsynonymous SNV R80H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.8 299398 chr14 64532212 64532212 A C rs886285721 SYNE2 Nonsynonymous SNV R3425S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.61 299399 chr2 241401732 241401732 G A rs759583982 GPC1 Synonymous SNV L150L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 299400 chr12 54743433 54743433 C A rs115975751 COPZ1 Synonymous SNV T136T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.32 299401 chr16 57513381 57513381 G A rs773818065 DOK4 Synonymous SNV Y13Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 299402 chr12 55356643 55356643 G A rs938626019 TESPA1 Nonsynonymous SNV P138S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.191 299403 chr14 65499359 65499359 C G CHURC1-FNTB, FNTB Nonsynonymous SNV L213V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 299404 chr14 77861133 77861133 A G rs750330038 NOXRED1 Synonymous SNV F307F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.391 299405 chr14 69704351 69704351 A G rs917340336 EXD2 Nonsynonymous SNV N326S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 299406 chr16 593353 593353 G A rs932978325 MIR3176 0 0 0.003 0 0 0 0 1 0 0 0 0 2.582 299407 chr16 67327705 67327705 G A rs769654789 KCTD19 Nonsynonymous SNV P654S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 299408 chr16 67997910 67997910 C T rs1040637020 SLC12A4 Synonymous SNV V7V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.642 299409 chr16 681307 681307 G A rs139206806 WFIKKN1 Synonymous SNV S18S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.451 299410 chr12 57859572 57859572 A T rs769632060 GLI1 Nonsynonymous SNV D81V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 299411 chr16 69942687 69942687 A G rs141794731 WWP2 Nonsynonymous SNV N197S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.7 299412 chr14 101004844 101004844 C T rs199996727 BEGAIN Nonsynonymous SNV R415K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.639 299413 chr16 71423740 71423740 T C rs200190075 CALB2 Nonsynonymous SNV I263T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 299414 chr16 72992102 72992102 A G rs144465704 ZFHX3 Nonsynonymous SNV V648A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 299415 chr3 49694600 49694600 C T rs778507223 BSN Synonymous SNV D2537D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.887 299416 chr16 75513361 75513361 C A CHST6 Nonsynonymous SNV Q122H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 299417 chr2 27665973 27665973 C A rs145201619 KRTCAP3 Nonsynonymous SNV N102K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 299418 chr3 50154876 50154876 A T rs1024960560 SEMA3F-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.156 299419 chr16 773894 773894 G C CCDC78 Nonsynonymous SNV P366A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 299420 chr14 91110502 91110502 G A rs147740201 TTC7B Synonymous SNV D547D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 299421 chr2 32768427 32768427 G A rs148397523 BIRC6 Synonymous SNV A4137A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 299422 chr2 3278174 3278174 C T EIPR1 Synonymous SNV L92L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.466 299423 chr2 33952295 33952295 - G rs777262104 MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 299424 chr3 53263383 53263383 A G rs138820989 TKT Nonsynonymous SNV F393L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.653 299425 chr3 58383365 58383365 C T rs377744341 PXK Nonsynonymous SNV H203Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 299426 chr3 58639431 58639431 T C FAM3D Nonsynonymous SNV M31V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 299427 chr16 88495399 88495399 C T rs1042676401 ZNF469 Synonymous SNV P507P 0 0 0.003 0 0 0 0 1 0 0 0 0 9 299428 chr13 46170656 46170656 G A rs200132694 ERICH6B Nonsynonymous SNV A162V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.042 299429 chr15 100871158 100871158 C A ADAMTS17 Nonsynonymous SNV W184C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 299430 chr16 88505229 88505229 C G ZNF469 Nonsynonymous SNV A3784G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 299431 chr15 40581068 40581068 C T PLCB2 Nonsynonymous SNV A1121T 0 0 0 1 0 0 0.003 0 0 0 0 0 22 299432 chr12 6635495 6635495 G A rs562323013 NCAPD2 Nonsynonymous SNV E842K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 299433 chr12 68051507 68051507 C T rs201048832 DYRK2 Nonsynonymous SNV R201W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 299434 chr2 68384416 68384416 C T rs138076521 WDR92 Nonsynonymous SNV G54R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 299435 chr12 7254497 7254497 C T rs374288898 C1RL Nonsynonymous SNV V163M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 299436 chr12 7260928 7260928 A C C1RL Synonymous SNV A73A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.94 299437 chr14 100613233 100613233 G A rs760013835 DEGS2 Synonymous SNV I279I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.05 299438 chr15 40018824 40018824 C T FSIP1 Nonsynonymous SNV S339N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.23 299439 chr17 1508115 1508115 G A rs994741759 SLC43A2 Synonymous SNV Y3Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.744 299440 chr15 43628024 43628024 A T ADAL Nonsynonymous SNV E65V 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 299441 chr12 78594291 78594291 G A rs199935356 NAV3 Nonsynonymous SNV G2230S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 299442 chr3 119121199 119121199 G A rs755079949 ARHGAP31 Nonsynonymous SNV G534S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.37 299443 chr3 119133999 119133999 G T rs777789268 ARHGAP31 Nonsynonymous SNV V1075L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 299444 chr17 18052106 18052106 G A rs114274755 MYO15A Nonsynonymous SNV V2266M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 24.2 299445 chr15 42979637 42979637 G A STARD9 Nonsynonymous SNV R1954H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.311 299446 chr17 18060310 18060310 G A rs752873001 MYO15A Nonsynonymous SNV D2882N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.2 299447 chr17 18067150 18067150 G C rs368106470 MYO15A Nonsynonymous SNV R3262P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22 299448 chr15 43020911 43020911 A G rs149472555 CDAN1 Synonymous SNV L915L 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.904 299449 chr17 18148944 18148944 C G rs113208618 FLII Synonymous SNV V1123V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 9.063 299450 chr15 43351311 43351311 T G rs142798632 UBR1 Nonsynonymous SNV L355F 0.003 0 0 0 3 0 0 0 0 0 0 0 25.2 299451 chr17 18855539 18855539 C T rs141266407 SLC5A10 Synonymous SNV S7S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 299452 chr15 42139005 42139005 T G rs907781628 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV L640W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 299453 chr2 95941838 95941838 C T rs142187492 PROM2 Nonsynonymous SNV A152V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.493 299454 chr2 95945737 95945737 C T rs558698744 PROM2 Synonymous SNV F473F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 299455 chr15 42446403 42446403 T C PLA2G4F Nonsynonymous SNV T113A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.426 299456 chr2 97530525 97530525 G A SEMA4C Synonymous SNV Y293Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.741 299457 chr15 51868307 51868307 A T rs140441868 DMXL2 Synonymous SNV A53A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.676 299458 chr3 100962580 100962580 A G rs866409532 IMPG2 Synonymous SNV Y865Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 299459 chr15 43820241 43820241 C T rs766754562 MAP1A Synonymous SNV P2190P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.514 299460 chr15 44964601 44964603 TGC - PATL2 Q166del 0.001 0 0 0 1 0 0 0 0 0 0 0 299461 chr17 2234246 2234246 C T rs148862735 TSR1 Nonsynonymous SNV A552T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 299462 chr15 55921043 55921043 C T rs77440317 PRTG Nonsynonymous SNV R928H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 299463 chr3 126260680 126260680 C A rs866549861 CHST13 Nonsynonymous SNV D95E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.19 299464 chr3 111356959 111356959 C T rs377429008 CD96 Nonsynonymous SNV S474L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 299465 chr15 62214693 62214693 T C VPS13C Nonsynonymous SNV H2250R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.7 299466 chr14 58863051 58863051 G A rs140260851 TOMM20L Nonsynonymous SNV G58S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.572 299467 chr13 103519003 103519003 A G rs745357807 BIVM-ERCC5, ERCC5 Nonsynonymous SNV I781V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.891 299468 chr15 64067325 64067325 T G rs757221928 HERC1 Synonymous SNV L166L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.509 299469 chr15 66641713 66641713 T C TIPIN Synonymous SNV K16K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.71 299470 chr13 114060215 114060215 G C LOC101928841 Nonsynonymous SNV P764A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.892 299471 chr3 135825133 135825133 G A rs761456361 PPP2R3A Nonsynonymous SNV E364K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 299472 chr3 137850019 137850019 G C rs75910014 A4GNT Nonsynonymous SNV S27C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 299473 chr3 138091902 138091902 A G rs16848033 MRAS Synonymous SNV Q59Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.921 299474 chr14 68117637 68117637 G A rs780811499 ARG2 Synonymous SNV X355X 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 299475 chr17 36895853 36895853 C T rs548106450 PCGF2 Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 299476 chr13 23913341 23913341 A C rs781676575 SACS Synonymous SNV L1411L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 299477 chr15 75197040 75197040 C T rs141614091 FAM219B Nonsynonymous SNV G132R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 299478 chr15 65931965 65931965 G A rs754407932 SLC24A1 Synonymous SNV S641S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 299479 chr13 25444818 25444818 C T rs146604608 RNF17 Nonsynonymous SNV A1459V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 299480 chr3 148764045 148764045 G A rs371233960 HLTF Nonsynonymous SNV R631C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 299481 chr15 79277306 79277306 A G rs554806084 LOC100129540 0.003 0 0 0 3 0 0 0 0 0 0 0 5.506 299482 chr3 128181452 128181452 C T rs772220976 DNAJB8 Nonsynonymous SNV G213R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 299483 chr15 74426637 74426637 C T rs773990160 ISLR2 Synonymous SNV G514G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 299484 chr15 75122588 75122588 G A rs768915432 CPLX3 Nonsynonymous SNV G124R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 299485 chr15 85342440 85342440 G A rs150829393 ZNF592 Nonsynonymous SNV G1046R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.3 299486 chr17 39619109 39619109 C T rs145417626 KRT32 Nonsynonymous SNV R397Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 299487 chr15 85400566 85400566 C T rs35292668 ALPK3 Nonsynonymous SNV T1068M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 23.8 299488 chr15 80469897 80469897 C T rs529709868 FAH Nonsynonymous SNV A311V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 299489 chr17 39724834 39724834 T C rs114395985 KRT9 Nonsynonymous SNV S366G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.78 299490 chr3 179605493 179605493 G A rs150573100 PEX5L Nonsynonymous SNV A34V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 299491 chr17 4047086 4047086 C G CYB5D2 Nonsynonymous SNV L13V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.04 299492 chr3 184100536 184100536 G A CHRD Nonsynonymous SNV R319Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 299493 chr15 89169891 89169891 A T rs375287786 AEN Nonsynonymous SNV M151L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 299494 chr17 45380155 45380157 TAC - ITGB3 Y696del 0 0 0.003 0 0 0 0 1 0 0 0 0 299495 chr3 155860976 155860976 G A KCNAB1 Synonymous SNV L3L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 299496 chr3 157823673 157823673 G A SHOX2 Synonymous SNV G47G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.92 299497 chr14 102506665 102506665 C T DYNC1H1 Nonsynonymous SNV T3928I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 299498 chr3 160156421 160156421 G A TRIM59 Nonsynonymous SNV A184V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.499 299499 chr3 194346675 194346675 A G rs201195246 TMEM44 Synonymous SNV F103F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 299500 chr3 16419328 16419328 G A rs780253575 RFTN1 Synonymous SNV S241S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 299501 chr14 104643124 104643124 G A rs769663594 KIF26A Synonymous SNV S1333S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.242 299502 chr3 173518088 173518088 C T rs77343837 NLGN1 Nonsynonymous SNV L167F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 299503 chr3 180337679 180337679 T C CCDC39 Nonsynonymous SNV Y693C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 299504 chr17 54543770 54543770 T C rs1031754544 ANKFN1 Synonymous SNV D540D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.268 299505 chr17 5463149 5463149 G A NLRP1 Synonymous SNV P289P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.004 299506 chr4 672477 672477 G T MYL5 Nonsynonymous SNV G12C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 299507 chr17 55184028 55184028 C T rs376502975 AKAP1 Synonymous SNV D401D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.742 299508 chr16 11855766 11855766 G A rs138595814 ZC3H7A Nonsynonymous SNV S738L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 299509 chr16 2049631 2049631 G A rs144186452 ZNF598 Nonsynonymous SNV P640L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.429 299510 chr17 56573006 56573006 G A rs376695241 MTMR4 Nonsynonymous SNV L833F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 299511 chr16 1393421 1393421 T G BAIAP3 Nonsynonymous SNV H395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 299512 chr4 2951879 2951879 G C rs745817179 NOP14, NOP14-AS1 Nonsynonymous SNV P355R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 299513 chr14 23451221 23451221 G A rs949447270 AJUBA Synonymous SNV Y85Y 0 0 0 1 0 0 0.003 0 0 0 0 0 3.455 299514 chr17 6941971 6941971 C T rs202121781 SLC16A13 Stop gain R282X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 299515 chr16 2108828 2108828 A G rs878854122 TSC2 Nonsynonymous SNV Y110C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.717 299516 chr16 2121887 2121887 C T rs569518378 TSC2 Synonymous SNV S483S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.4 299517 chr14 24002586 24002586 G A rs186430542 ZFHX2 Nonsynonymous SNV P650L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 299518 chr16 24583034 24583034 T C rs369980779 RBBP6 Synonymous SNV Y1515Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 299519 chr3 196771521 196771521 G A rs199781716 DLG1 Synonymous SNV I780I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.426 299520 chr17 7156311 7156311 A G rs767947581 ELP5 Nonsynonymous SNV N77S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 299521 chr16 23692284 23692284 G C PLK1 Nonsynonymous SNV K209N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 299522 chr4 8235103 8235103 G A rs147442685 SH3TC1 Nonsynonymous SNV A973T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 299523 chr16 28507335 28507335 G A rs199560946 APOBR Nonsynonymous SNV G325R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 299524 chr14 31354994 31354994 C T rs753785426 LOC100506071 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.558 299525 chr16 2571076 2571076 C T rs774905559 AMDHD2 Synonymous SNV T104T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.705 299526 chr16 3594310 3594310 C T rs145045591 NLRC3 Nonsynonymous SNV G931R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 299527 chr17 7315513 7315513 T G rs769481772 NLGN2 Nonsynonymous SNV N165K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 299528 chr14 37132555 37132555 C A rs773508045 PAX9 Nonsynonymous SNV A153E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 299529 chr16 29855955 29855955 T C rs143747451 MVP Synonymous SNV H526H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.094 299530 chr16 2987259 2987259 C T rs760918114 FLYWCH1 Nonsynonymous SNV R551C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 299531 chr16 3169788 3169788 A C ZNF205 Nonsynonymous SNV H376P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 299532 chr16 30078893 30078893 C T ALDOA Nonsynonymous SNV L79F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 299533 chr17 74150231 74150231 G A rs531398564 RNF157-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.183 299534 chr16 30749892 30749892 G C rs143277114 SRCAP Nonsynonymous SNV G2844A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.132 299535 chr16 30772996 30772996 C T CCDC189 Nonsynonymous SNV R25Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 299536 chr16 30779618 30779618 G T RNF40 Synonymous SNV L482L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.152 299537 chr17 74309934 74309934 C T rs779431619 PRPSAP1 Nonsynonymous SNV G171R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 299538 chr15 66206090 66206090 C T rs143461663 MEGF11 Nonsynonymous SNV D899N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 299539 chr16 30795483 30795483 T C ZNF629 Nonsynonymous SNV K56E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 299540 chr16 4926901 4926901 C T rs746334782 UBN1 Synonymous SNV A1018A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.76 299541 chr14 61747844 61747844 G A TMEM30B Nonsynonymous SNV R8W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 299542 chr17 76046857 76046857 G A TNRC6C Nonsynonymous SNV G572S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 299543 chr16 31500072 31500072 G A rs1047946655 SLC5A2 Nonsynonymous SNV R420H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 299544 chr16 47644779 47644779 G A rs747429835 PHKB Nonsynonymous SNV R469H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 299545 chr17 77082402 77082402 G A rs540005742 ENGASE Nonsynonymous SNV A735T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 299546 chr17 77984207 77984207 C A rs578153450 TBC1D16 Synonymous SNV S177S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 299547 chr3 47046725 47046725 C T NBEAL2 Synonymous SNV T2124T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 299548 chr3 47053972 47053972 C T rs570426070 NRADDP 0 0 0.003 0 0 0 0 1 0 0 0 0 3.286 299549 chr16 46617485 46617485 A G rs777879313 SHCBP1 Synonymous SNV L468L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.221 299550 chr14 74531894 74531894 T C ALDH6A1 Nonsynonymous SNV D452G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 299551 chr3 48732571 48732571 A T IP6K2 Nonsynonymous SNV Y52N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 299552 chr3 49051262 49051262 C T rs761139709 WDR6 Synonymous SNV H739H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 299553 chr16 4933409 4933409 C G rs116861592 PPL Synonymous SNV A1749A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 299554 chr16 50810185 50810185 A G rs766929368 CYLD Nonsynonymous SNV T337A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 299555 chr14 65245888 65245888 A C rs146588994 SPTB Nonsynonymous SNV M1517R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 299556 chr16 57844681 57844681 C T LOC388282 Nonsynonymous SNV R21C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.582 299557 chr17 79278528 79278528 C T rs150866343 LINC00482 0 0 0.007 0 0 0 0 2 0 0 0 0 3.483 299558 chr3 53700371 53700371 G A rs200101586 CACNA1D Nonsynonymous SNV V309I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 299559 chr3 53856604 53856604 C T rs763294547 CHDH Nonsynonymous SNV E257K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 299560 chr17 8076883 8076883 G C rs368022715 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 299561 chr17 8139610 8139610 A G rs367935180 CTC1 Synonymous SNV Y281Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.035 299562 chr14 74534170 74534170 C T ALDH6A1 Nonsynonymous SNV A306T 0 0 0 1 0 0 0.003 0 0 0 0 0 33 299563 chr4 77680831 77680831 G C rs199558629 SHROOM3 Nonsynonymous SNV D1778H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299564 chr16 72828750 72828750 T C ZFHX3 Nonsynonymous SNV M1697V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.093 299565 chr14 94063829 94063829 C T rs769643865 UNC79 Synonymous SNV P1105P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 299566 chr16 68265890 68265890 A T rs149234558 ESRP2 Nonsynonymous SNV C382S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.12 299567 chr18 19029626 19029626 G A rs747371319 GREB1L Nonsynonymous SNV V517I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 299568 chr16 82032723 82032723 G A SDR42E1 Nonsynonymous SNV S392L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.866 299569 chr18 32823171 32823171 G C rs147427183 ZNF397 Nonsynonymous SNV R157T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 299570 chr4 94006315 94006315 G A rs768903571 GRID2 Synonymous SNV R138R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 299571 chr16 72821595 72821618 CCGCCGCCGCCGCCGCCGCCGCCA - rs765152994 ZFHX3 G2606_G2613del 0.001 0 0 0 1 0 0 0 0 0 0 0 299572 chr4 104013824 104013824 T C rs778332306 BDH2 Nonsynonymous SNV K61E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 299573 chr18 43459147 43459147 A C EPG5 Nonsynonymous SNV F1900L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 299574 chr16 81095125 81095125 C T rs370784988 C16orf46 Nonsynonymous SNV D277N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 299575 chr16 814967 814967 C T rs756800703 MSLN Synonymous SNV A147A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.989 299576 chr16 815778 815778 C T rs199964761 MSLN Nonsynonymous SNV R295W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 299577 chr16 817439 817439 C T rs201169888 MSLN Nonsynonymous SNV T530M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 299578 chr18 59814286 59814286 G A rs541513176 PIGN Synonymous SNV I241I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 299579 chr18 60645654 60645654 G A rs568717247 PHLPP1 Nonsynonymous SNV V1382I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 299580 chr4 128626852 128626852 A G INTU Nonsynonymous SNV Q558R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 299581 chr16 87637899 87637899 - CTG JPH3 A157_V158insA 0.001 0 0 0 1 0 0 0 0 0 0 0 299582 chr16 87743205 87743205 C T rs372831044 KLHDC4 Synonymous SNV P314P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 299583 chr4 126402731 126402731 C A FAT4 Nonsynonymous SNV H4220Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 299584 chr4 145567910 145567910 G C HHIP Nonsynonymous SNV R28T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 299585 chr4 153791955 153791955 G C rs138548694 ARFIP1 Nonsynonymous SNV A85P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 299586 chr4 148461064 148461064 G A rs201206492 EDNRA Synonymous SNV V223V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.3 299587 chr16 88789295 88789295 T A rs927839077 PIEZO1 Nonsynonymous SNV S1540C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 299588 chr15 42172443 42172443 T C SPTBN5 Nonsynonymous SNV Q909R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.206 299589 chr16 89662919 89662919 G A rs746773328 CPNE7 Nonsynonymous SNV V523M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 299590 chr16 89836305 89836305 G A rs778009295 FANCA Nonsynonymous SNV P815L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 299591 chr16 89877154 89877154 G A rs769389376 FANCA Synonymous SNV F161F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.215 299592 chr15 42436319 42436319 T G rs199876237 PLA2G4F Nonsynonymous SNV N667H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 299593 chr4 183836173 183836173 G A rs192527726 DCTD Synonymous SNV V60V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.251 299594 chr4 184931828 184931828 G A rs745980111 STOX2 Nonsynonymous SNV A613T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 299595 chr4 186185713 186185713 G T SNX25 Nonsynonymous SNV V121L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 299596 chr17 17409125 17409125 C T rs70965427 PEMT Nonsynonymous SNV G209R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.761 299597 chr4 20619258 20619258 G C rs141897818 SLIT2 Nonsynonymous SNV D1441H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 299598 chr19 15272347 15272347 C T rs779314594 NOTCH3 Nonsynonymous SNV R2031H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 299599 chr15 66816033 66816033 G C rs765263706 ZWILCH Nonsynonymous SNV G142R 0.001 0 0 0 1 0 0 0 0 0 0 0 29 299600 chr19 15278132 15278132 G A rs757739462 NOTCH3 Nonsynonymous SNV P1764S 0 0 0.007 0 0 0 0 2 0 0 0 0 29.6 299601 chr19 15353727 15353727 C T rs780921671 BRD4 Synonymous SNV S1051S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 299602 chr19 15565538 15565538 G C rs769253617 RASAL3 Nonsynonymous SNV P630A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 299603 chr4 3039110 3039110 G A rs35024854 GRK4 Nonsynonymous SNV V279I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 299604 chr4 30723530 30723530 C T rs375852687 PCDH7 Synonymous SNV Y162Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.256 299605 chr4 39482587 39482587 T C rs115998884 LOC401127 0 0 0.014 0 0 0 0 4 0 0 0 0 0.336 299606 chr19 17305670 17305670 G A rs373728358 MYO9B Nonsynonymous SNV R1145Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 299607 chr4 435561 435562 CA - rs782011346 ZNF721 C898Wfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 299608 chr4 48112571 48112571 T C rs139881249 TXK Nonsynonymous SNV N144D 0 0 0.007 0 0 0 0 2 0 0 0 0 20.1 299609 chr17 26970327 26970327 T C rs776637868 KIAA0100 Nonsynonymous SNV H84R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 299610 chr19 18280080 18280080 C T rs147625988 PIK3R2 Synonymous SNV P721P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 20.1 299611 chr17 27184970 27184970 C T ERAL1 Nonsynonymous SNV T167I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299612 chr16 599722 599722 G A rs754630964 CAPN15 Synonymous SNV T650T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.24 299613 chr16 614875 614875 G A rs778152353 PRR35 Synonymous SNV A428A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.957 299614 chr15 75115043 75115043 G A rs199936512 LMAN1L Nonsynonymous SNV E398K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 299615 chr17 30664923 30664923 T C rs750066007 C17orf75 Nonsynonymous SNV N181S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 299616 chr17 36482913 36482913 T C GPR179 Nonsynonymous SNV E2180G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 299617 chr4 6229796 6229796 G A rs187131212 LINC02495 0 0 0.003 0 0 0 0 1 0 0 0 0 4.53 299618 chr16 29913222 29913222 C G ASPHD1 Synonymous SNV A310A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.91 299619 chr19 23927555 23927555 G A rs45449692 ZNF681 Nonsynonymous SNV S266L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.207 299620 chr15 81428959 81428959 G A rs543896743 CFAP161 Nonsynonymous SNV G88R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 299621 chr19 31769715 31769715 C T rs374355143 TSHZ3 Synonymous SNV L328L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.784 299622 chr15 83935630 83935630 C G rs201182456 BNC1 Nonsynonymous SNV L124F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 299623 chr19 33134374 33134374 T C rs767178780 ANKRD27 Nonsynonymous SNV Q201R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.98 299624 chr5 59189325 59189325 G T rs372946517 PDE4D Nonsynonymous SNV P42Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.03 299625 chr5 60628153 60628183 GGGCGGCGGCGGCGGCGGCGGGGGCAGCAGC GGGCGGCGGCGGCGGGGGCAGCAGC ZSWIM6 G25_G26del 0.001 0 0 0 1 0 0 0 0 0 0 0 299626 chr4 774980 774980 - CAGA LOC100129917 0 0 0.003 0 0 0 0 1 0 0 0 0 299627 chr17 41930283 41930283 C G rs142168889 CD300LG Nonsynonymous SNV P128R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.1 299628 chr17 39197423 39197437 CAGCAGCTTGGCTGG - rs762171111 KRTAP1-1 Q72_C76del 0.001 0 0 0 1 0 0 0 0 0 0 0 299629 chr4 8588929 8588929 C T rs372911936 GPR78 Nonsynonymous SNV R311W 0 0 0.003 0 0 0 0 1 0 0 0 0 25 299630 chr17 43332648 43332648 G A rs761250386 SPATA32 Nonsynonymous SNV R301C 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.35 299631 chr17 40174436 40174436 G A rs141061455 NKIRAS2 Synonymous SNV T38T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 299632 chr19 3823387 3823387 G A ZFR2 Stop gain Q410X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 299633 chr17 42226124 42226124 G A rs145117407 HROB Nonsynonymous SNV R318Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.272 299634 chr19 40580714 40580714 A G rs62108932 ZNF780A Synonymous SNV N545N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.21 299635 chr17 41245136 41245136 C G rs55746541 BRCA1 Nonsynonymous SNV Q757H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.81 299636 chr19 41292753 41292753 G A rs751481760 RAB4B Nonsynonymous SNV G176D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 299637 chr16 88705476 88705476 G A rs189998965 IL17C Nonsynonymous SNV G32S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.67 299638 chr17 4448928 4448928 G A rs755562015 MYBBP1A Nonsynonymous SNV R684C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 299639 chr17 48606118 48606118 C T rs141898450 MYCBPAP Nonsynonymous SNV R839W 0 0 0.003 1 0 0 0.003 1 0 0 0 0 29 299640 chr5 96225034 96225034 T C rs201327810 ERAP2 Nonsynonymous SNV V332A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.496 299641 chr5 122506607 122506607 A T rs200667727 PRDM6 Nonsynonymous SNV D434V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 299642 chr19 42265316 42265316 A G rs781784609 CEACAM6 Nonsynonymous SNV N195S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 299643 chr19 42880102 42880102 G A rs200748447 MEGF8 Synonymous SNV P2504P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 7.358 299644 chr19 42931226 42931226 C G rs768372490 LIPE Nonsynonymous SNV E26Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 299645 chr5 109178089 109178089 G A rs771839530 MAN2A1 Nonsynonymous SNV R876H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 299646 chr5 133902055 133902055 C T JADE2 Synonymous SNV L407L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.143 299647 chr5 136314459 136314459 G A rs758168023 SPOCK1 Nonsynonymous SNV R402W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 299648 chr5 118469679 118469679 A G rs148205853 DMXL1 Nonsynonymous SNV N687S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.104 299649 chr5 140168112 140168112 G T rs377323471 PCDHA1 Nonsynonymous SNV G746V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 299650 chr17 48941295 48941295 A G TOB1 Synonymous SNV F28F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.119 299651 chr19 45206673 45206673 C T rs769083688 CEACAM16 Nonsynonymous SNV P31L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 299652 chr19 45593583 45593583 C T GEMIN7 Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 299653 chr19 45783843 45783843 A T rs776846141 MARK4 Nonsynonymous SNV D376V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 299654 chr19 46191689 46191689 G A rs200086836 SNRPD2 Synonymous SNV C46C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.409 299655 chr19 47291101 47291101 G A SLC1A5 Nonsynonymous SNV S41F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 299656 chr5 138716566 138716566 C T rs114793168 SLC23A1 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 299657 chr19 4817962 4817962 C T rs761271093 TICAM1 Nonsynonymous SNV R143Q 0 0 0.007 0 0 0 0 2 0 0 0 0 12.63 299658 chr5 145199570 145199570 C T rs557932254 PRELID2 Nonsynonymous SNV G49R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 299659 chr5 145858101 145858101 C T TCERG1 Synonymous SNV P528P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 299660 chr5 146889394 146889394 T C DPYSL3 Nonsynonymous SNV S10G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 299661 chr19 49228043 49228043 C T RASIP1 Nonsynonymous SNV V768M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 299662 chr5 140780082 140780082 T C rs367864769 PCDHGB5 Synonymous SNV H796H 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 299663 chr5 149456993 149456993 T C rs994428519 CSF1R Synonymous SNV A245A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 299664 chr17 6981359 6981359 G A rs766227084 CLEC10A Synonymous SNV L47L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.349 299665 chr19 51015830 51015830 C G ASPDH Nonsynonymous SNV R42P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 299666 chr17 71431625 71431625 C T rs202233721 SDK2 Nonsynonymous SNV G387S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 299667 chr5 148687115 148687115 G A rs768606047 AFAP1L1 Nonsynonymous SNV R196Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 299668 chr17 7156281 7156281 A T rs769822007 ELP5 Nonsynonymous SNV E67V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 299669 chr5 159821931 159821931 C T rs780890663 ZBED8 Nonsynonymous SNV M189I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 299670 chr19 52793802 52793802 A G rs764109573 ZNF766 Nonsynonymous SNV N253S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 299671 chr16 66527075 66527075 C T rs1004286389 BEAN1 Nonsynonymous SNV R120W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 299672 chr16 66788947 66788947 G A rs200191895 TERB1 Nonsynonymous SNV R706W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.6 299673 chr16 67063325 67063325 G T CBFB Synonymous SNV V5V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.936 299674 chr16 58031932 58031932 C T rs746044974 ZNF319 Nonsynonymous SNV V80M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.32 299675 chr17 73751170 73751170 G A rs201097664 ITGB4 Synonymous SNV R1461R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.28 299676 chr17 74300591 74300591 T G QRICH2 Nonsynonymous SNV K38Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 299677 chr16 68255187 68255187 G C rs200790170 NFATC3 Nonsynonymous SNV E1065D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.646 299678 chr5 175795994 175795994 T G rs200750054 ARL10 Synonymous SNV A190A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.404 299679 chr17 75494678 75494678 G A rs201409034 SEPTIN9 Nonsynonymous SNV E455K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.8 299680 chr5 175958540 175958540 C G rs150789349 RNF44 Nonsynonymous SNV C130S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 299681 chr19 55221953 55221953 C T rs539942097 LILRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.909 299682 chr5 176011850 176011850 C T rs35794631 CDHR2 Synonymous SNV V856V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.44 299683 chr5 176022584 176022584 G A rs34418000 CDHR2 Nonsynonymous SNV V1282M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.228 299684 chr5 176025487 176025487 G C rs114513305 GPRIN1 Nonsynonymous SNV T450S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.2 299685 chr5 176025826 176025826 C G rs10037225 GPRIN1 Nonsynonymous SNV G337A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 299686 chr17 76471417 76471417 G A rs200747249 DNAH17 Synonymous SNV S2818S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.469 299687 chr5 176316713 176316713 G A rs753683460 HK3 Synonymous SNV N221N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.73 299688 chr5 176825002 176825002 C T rs7379524 SLC34A1 Synonymous SNV G545G 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 Benign 3.841 299689 chr5 180625214 180625214 G A rs374765751 TRIM7 Synonymous SNV D149D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.291 299690 chr17 76563221 76563221 G T rs768388324 DNAH17 Nonsynonymous SNV L438M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 299691 chr19 55953782 55953790 GCGCCCCCG - rs993854760 SHISA7 A153_G155del 0 0 0.007 0 0 0 0 2 0 0 0 0 299692 chr5 24498606 24498606 G A rs139927244 CDH10 Synonymous SNV R472R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.385 299693 chr5 179251069 179251069 C G rs199931327 SQSTM1 Synonymous SNV P171P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.793 299694 chr17 7708371 7708371 C T rs764822450 DNAH2 Synonymous SNV P3093P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.28 299695 chr19 56544044 56544044 C T rs577329143 NLRP5 Nonsynonymous SNV H782Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.54 299696 chr19 56704169 56704169 C T rs199640897 ZSCAN5B Nonsynonymous SNV D85N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 299697 chr17 7836551 7836551 G A rs770985808 CNTROB Nonsynonymous SNV A52T 0.001 0 0 0 1 0 0 0 0 0 0 0 30 299698 chr19 56896024 56896024 C T rs200288756 ZNF582 Synonymous SNV P285P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 299699 chr17 78079577 78079577 G C rs760655446 GAA Nonsynonymous SNV E192D 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24 299700 chr17 79986148 79986148 G A rs532734054 LRRC45 Synonymous SNV L362L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 299701 chr16 85687979 85687979 G A rs764020670 GSE1 Synonymous SNV S70S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.129 299702 chr17 80884315 80884315 G A rs199644299 TBCD Nonsynonymous SNV E807K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 299703 chr17 80918994 80918994 C T rs149224289 B3GNTL1 Nonsynonymous SNV V44M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 299704 chr6 13295556 13295556 C T rs1550525 LOC100130357 0.001 0 0 0 1 0 0 0 0 0 0 0 9.089 299705 chr19 6913801 6913801 C G ADGRE1 Synonymous SNV P279P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.695 299706 chr17 8409703 8409703 C A rs776725154 MYH10 Nonsynonymous SNV A1076S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.98 299707 chr17 9583619 9583619 C T rs373664783 USP43 Synonymous SNV I347I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 299708 chr19 7684945 7684945 A G rs940853669 XAB2 Synonymous SNV P761P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 299709 chr5 76342439 76342439 G A rs916609348 AGGF1 Nonsynonymous SNV D380N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 299710 chr17 36916801 36916801 C T PSMB3 Synonymous SNV V138V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.81 299711 chr16 89347347 89347347 G T ANKRD11 Nonsynonymous SNV P1868Q 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 299712 chr6 27835233 27835233 A T H1-5 Synonymous SNV T25T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 299713 chr5 79285039 79285039 G C rs369356223 MTX3 Nonsynonymous SNV A25G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 299714 chr19 9021162 9021162 C A rs774717036 MUC16 Synonymous SNV L12387L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 299715 chr17 10416982 10416982 C T rs773084761 MYH1 Nonsynonymous SNV G256S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 299716 chr6 35287309 35287309 C T rs138908911 DEF6 Synonymous SNV A408A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 299717 chr17 11757484 11757484 G A rs201355369 DNAH9 Synonymous SNV S3224S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.367 299718 chr17 12666622 12666622 A G rs369384824 MYOCD Synonymous SNV L826L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.367 299719 chr17 17699952 17699952 G T rs760757169 RAI1 Synonymous SNV A1230A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.446 299720 chr6 41555212 41555212 C T rs35584312 FOXP4 Synonymous SNV P278P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.4 299721 chr6 41565581 41565581 C T rs147769655 FOXP4 Synonymous SNV S596S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.29 299722 chr6 41773516 41773516 T C rs901633758 USP49 Synonymous SNV E402E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.602 299723 chr17 60749076 60749076 G A rs765297618 MRC2 Nonsynonymous SNV R395H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 299724 chr17 62529267 62529267 T C CEP95 Synonymous SNV L461L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.952 299725 chr1 109806951 109806951 C T rs557805165 CELSR2 Synonymous SNV A1751A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.653 299726 chr17 20108086 20108086 G A rs144644210 SPECC1 Nonsynonymous SNV D161N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 299727 chr1 114483891 114483891 T G HIPK1 Nonsynonymous SNV L296V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 299728 chr6 46690518 46690518 A G rs142974898 PLA2G7 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 299729 chr1 117087196 117087196 T C rs762708999 CD58 Nonsynonymous SNV Y34C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 299730 chr6 12163919 12163919 G T HIVEP1 Nonsynonymous SNV S2461I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 299731 chr6 49986838 49986838 G A rs775126237 DEFB110 Nonsynonymous SNV A19V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 299732 chr18 7007254 7007254 T C LAMA1 Nonsynonymous SNV R1382G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 299733 chr18 77659763 77659763 G A rs201158480 KCNG2 Nonsynonymous SNV A450T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.449 299734 chr6 138566719 138566719 C T rs75188756 ARFGEF3 Nonsynonymous SNV A219V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 299735 chr17 48267411 48267437 TCGCCTTTAGCACCAGCATCACCAGGT - COL1A1 E828_G836del 0.001 0 0 0 1 0 0 0 0 0 0 0 299736 chr6 138754232 138754232 G A rs371935884 NHSL1 Nonsynonymous SNV T421I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 299737 chr17 30791084 30791084 G A rs146863808 PSMD11 Synonymous SNV E112E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.07 299738 chr6 142714126 142714126 C T rs375808235 ADGRG6 Synonymous SNV V422V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 299739 chr1 145440957 145440957 C A rs782333867 TXNIP Synonymous SNV T293T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 299740 chr6 146985391 146985391 A G ADGB Nonsynonymous SNV N223D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 299741 chr19 1041385 1041385 C A rs745358099 ABCA7 Nonsynonymous SNV L9M 0.002 0 0 0 2 0 0 0 1 0 0 0 22.9 299742 chr17 3477194 3477194 C T rs114179863 TRPV1 Synonymous SNV T612T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.45 299743 chr1 152324410 152324410 C T FLG2 Nonsynonymous SNV R1951K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.976 299744 chr1 152324411 152324411 T G FLG2 Synonymous SNV R1951R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.049 299745 chr17 3680924 3680924 T C rs756327817 ITGAE Nonsynonymous SNV D22G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 299746 chr19 10599937 10599937 C G rs369083385 KEAP1 Nonsynonymous SNV V547L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 299747 chr17 7578388 7578388 C T rs397514495 TP53 Nonsynonymous SNV R49H 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 28.5 299748 chr6 107008788 107008788 G A rs753275483 CRYBG1 Nonsynonymous SNV R1581Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 299749 chr19 10883157 10883157 C T rs148790687 DNM2 Nonsynonymous SNV H80Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.294 299750 chr6 109774985 109774985 C T rs150984265 MICAL1 Nonsynonymous SNV A108T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 299751 chr17 77079622 77079622 G A rs370257622 ENGASE Nonsynonymous SNV V401I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 299752 chr6 161135860 161135860 C T rs145192723 PLG Synonymous SNV D194D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.884 299753 chr1 161046154 161046154 T C NECTIN4 Nonsynonymous SNV N281S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.454 299754 chr6 25850164 25850164 T C rs141619987 SLC17A3 Synonymous SNV S302S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.563 299755 chr6 26027265 26027265 G A rs139832518 HIST1H4B Synonymous SNV T72T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.646 299756 chr6 26235084 26235084 C T rs1027218137 HIST1H1D Synonymous SNV K26K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.181 299757 chr19 15807248 15807248 C G rs377249673 CYP4F12 Nonsynonymous SNV D441E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 299758 chr1 162344113 162344113 T C SPATA46 Nonsynonymous SNV M171V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 299759 chr17 41108438 41108438 C T rs35470084 AARSD1, PTGES3L-AARSD1 Nonsynonymous SNV D177N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 299760 chr1 165797088 165797088 G A rs200215834 UCK2 Synonymous SNV E6E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 299761 chr17 8161406 8161406 G A PFAS Nonsynonymous SNV G409S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 299762 chr6 33695971 33695971 C T rs144020753 IP6K3 Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 299763 chr17 8647864 8647864 G A rs866068531 CCDC42 Nonsynonymous SNV R22W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 299764 chr17 73498817 73498819 AGG - rs555898732 CASKIN2 S697del 0.001 0 0 0 1 0 0 0 0 0 0 0 299765 chr19 17435633 17435633 G T ANO8 Nonsynonymous SNV P1075Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 299766 chr6 38697758 38697758 T G DNAH8 Synonymous SNV G202G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.23 299767 chr6 158323031 158323031 G A rs201265199 SNX9 Nonsynonymous SNV G192R 0.001 0 0 2 1 0 0.005 0 0 0 0 1 24 299768 chr6 42018309 42018309 C T TAF8 Synonymous SNV A10A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 299769 chr6 43181630 43181630 A G CUL9 Nonsynonymous SNV I1890V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 299770 chr1 1854080 1854080 C T rs757596178 CFAP74 Nonsynonymous SNV R1589H 0 0 0.007 0 0 0 0 2 0 0 0 0 15.05 299771 chr19 2877618 2877618 A G rs73519561 ZNF556 Nonsynonymous SNV H220R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 299772 chr17 5137937 5137937 G A rs1024431800 LOC100130950 0 0 0 1 0 0 0.003 0 0 0 0 0 6.85 299773 chr1 19584983 19584983 T G MRTO4 Nonsynonymous SNV L169R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 299774 chr17 5322952 5322952 G C rs374387359 NUP88 Nonsynonymous SNV P7A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 299775 chr6 49753750 49753750 T C PGK2 Nonsynonymous SNV N384S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 299776 chr17 5322915 5322915 G A rs199579332 NUP88 Nonsynonymous SNV P19L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 299777 chr17 55183409 55183409 G C rs777170924 AKAP1 Nonsynonymous SNV R195T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.5 299778 chr6 54013873 54013873 G A rs200350443 MLIP Nonsynonymous SNV S211N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.4 299779 chr17 56404123 56404123 C A rs372349937 TSPOAP1 Nonsynonymous SNV R121M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 299780 chr19 34663634 34663634 C A rs147628704 LSM14A Synonymous SNV I29I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 299781 chr6 6318839 6318839 G C rs774246884 F13A1 Nonsynonymous SNV S20C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 299782 chr17 80391676 80391676 G A rs762179962 HEXD Nonsynonymous SNV R50Q 0.003 0 0 0 3 0 0 0 0 0 0 0 18.58 299783 chr1 201184945 201184945 G A rs768991419 IGFN1 Nonsynonymous SNV E3092K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.287 299784 chr17 60642390 60642390 A G TLK2 Nonsynonymous SNV D255G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 299785 chr6 7405521 7405521 G A rs202099009 RIOK1 Nonsynonymous SNV R275Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 299786 chr1 202864656 202864656 G A rs769501532 KLHL12 Synonymous SNV L415L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 299787 chr19 39002226 39002226 G A rs200797340 RYR1 Nonsynonymous SNV V3050I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 299788 chr19 36298001 36298001 T C PRODH2 Nonsynonymous SNV N283S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 299789 chr1 206239460 206239460 T G RHEX Synonymous SNV P146P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.296 299790 chr19 3736206 3736206 A G rs149323251 TJP3 Nonsynonymous SNV S391G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 299791 chr17 67029867 67029867 C T rs141104514 ABCA9 Nonsynonymous SNV A426T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.685 299792 chr1 2113473 2113473 G A rs906274656 PRKCZ-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.202 299793 chr6 96053988 96053988 C T rs748825646 MANEA Nonsynonymous SNV R366C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 299794 chr19 40225079 40225079 G A CLC Synonymous SNV D49D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 299795 chr1 223285199 223285199 C T rs144418928 TLR5 Nonsynonymous SNV R392Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 299796 chr19 41743886 41743886 G A rs747220380 AXL Nonsynonymous SNV G6E 0.002 0 0 0 2 0 0 0 0 0 0 0 8.972 299797 chr1 226573367 226573367 T C PARP1 Synonymous SNV V283V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.591 299798 chr7 102518012 102518012 G A rs368775610 FBXL13 Stop gain R513X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 299799 chr7 105636776 105636776 A C rs760682075 CDHR3 Nonsynonymous SNV N142T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 299800 chr1 229773634 229773634 G A rs749833401 URB2 Nonsynonymous SNV V1092M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 299801 chr7 107684283 107684285 TCC - rs777941055 LAMB4 E1462del 0 0 0.003 0 0 0 0 1 0 0 0 0 299802 chr1 236141179 236141179 G A rs772051661 NID1 Synonymous SNV I1244I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 299803 chr17 7750181 7750186 ACCACC - KDM6B P263_P264del 0.001 0 0 0 1 0 0 0 0 0 0 0 299804 chr7 120607698 120607698 A G rs777948056 ING3 Synonymous SNV T184T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.079 299805 chr1 240656305 240656305 G A GREM2 Synonymous SNV C157C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.136 299806 chr17 76799911 76799911 T C rs143211507 USP36 Nonsynonymous SNV E789G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.024 299807 chr19 45179666 45179666 C T rs146219702 CEACAM19 Nonsynonymous SNV T183I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 299808 chr17 77102828 77102828 G T RBFOX3 Nonsynonymous SNV P89T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 299809 chr19 46032425 46032425 C A rs902420776 OPA3 Synonymous SNV S144S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 299810 chr7 129102867 129102867 C T rs750715470 STRIP2 Nonsynonymous SNV L513F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 299811 chr7 92136386 92136386 C T rs150667796 PEX1 Synonymous SNV L575L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.97 299812 chr17 79654117 79654117 C A HGS Nonsynonymous SNV L95M 0 0 0 1 0 0 0.003 0 0 0 0 0 25 299813 chr19 48602933 48602933 T C rs2307282 PLA2G4C Nonsynonymous SNV R158G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 299814 chr17 7976594 7976594 G A ALOX12B Nonsynonymous SNV R600W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 299815 chr7 99708833 99708833 C A TAF6 Nonsynonymous SNV A375S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 299816 chr17 80436695 80436695 G A rs149086254 NARF Synonymous SNV E132E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 299817 chr19 50961870 50961870 G A rs775726089 MYBPC2 Nonsynonymous SNV E789K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 299818 chr7 143216179 143216179 C G rs188359589 EPHA1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.118 299819 chr7 149576489 149576489 C T ATP6V0E2 Nonsynonymous SNV P122L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 299820 chr7 149576700 149576700 G T rs182461753 ATP6V0E2 Synonymous SNV G192G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.329 299821 chr7 150648909 150648909 C T rs372089646 KCNH2 Synonymous SNV L184L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.522 299822 chr19 5137679 5137679 C T rs750342101 KDM4B Synonymous SNV T811T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 299823 chr7 150738231 150738231 C T rs146497617 ABCB8 Nonsynonymous SNV T422M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 299824 chr7 150839325 150839325 G A AGAP3 Nonsynonymous SNV D348N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 299825 chr7 1539174 1539174 C G INTS1 Nonsynonymous SNV R260T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 299826 chr7 155755807 155755807 C T LOC389602 Nonsynonymous SNV P95L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 299827 chr19 54677985 54677985 C A rs753979974 MBOAT7 Nonsynonymous SNV G318V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 299828 chr19 54844984 54844984 A T rs144295398 LILRA4 Synonymous SNV A453A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 299829 chr1 41481857 41481857 G A rs768673867 SLFNL1 Nonsynonymous SNV A382V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 299830 chr1 43166657 43166657 C T YBX1 Nonsynonymous SNV P316S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 299831 chr18 43460072 43460072 T A EPG5 Nonsynonymous SNV S1879C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.5 299832 chr1 44437079 44437079 C T rs766208949 DPH2 Nonsynonymous SNV R34C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 299833 chr19 53573406 53573406 T C rs772115872 ZNF160 Synonymous SNV E127E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 299834 chr7 2752479 2752479 G A rs140941586 AMZ1 Synonymous SNV S488S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.849 299835 chr7 115580883 115580883 G T rs757590571 TFEC Nonsynonymous SNV Q189K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 299836 chr19 56041261 56041261 G A rs528301476 SBK2 Synonymous SNV L296L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.912 299837 chr7 299859 299859 C T rs758105238 FAM20C Synonymous SNV A556A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 299838 chr1 52499031 52499031 G T KTI12 Synonymous SNV R135R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 299839 chr1 54694134 54694134 G A rs772222203 SSBP3 Synonymous SNV D314D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 299840 chr1 54723793 54723793 G A SSBP3 Synonymous SNV H132H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.553 299841 chr7 37298837 37298837 A G rs772054667 ELMO1 Nonsynonymous SNV I121T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 299842 chr19 55179368 55179368 G A rs79606733 LILRB4 Synonymous SNV L445L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.413 299843 chr18 57122151 57122151 C T rs189700794 CCBE1 Nonsynonymous SNV G196R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.06 299844 chr19 1912833 1912833 C T ADAT3 Nonsynonymous SNV P247S 0.003 0 0 0 3 0 0 0 0 0 0 0 13.22 299845 chr7 38514966 38514966 A G rs756722831 AMPH Synonymous SNV V185V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.014 299846 chr1 57373713 57373713 A T C8A Nonsynonymous SNV Q436L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.106 299847 chr7 45956840 45956840 G A IGFBP3 Nonsynonymous SNV S201F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 299848 chr19 56041112 56041112 C T SBK2 Synonymous SNV E345E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.945 299849 chr19 58058924 58058924 G T rs145416022 ZNF550 Nonsynonymous SNV P230T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 299850 chr18 7002277 7002277 G A rs113218555 LAMA1 Synonymous SNV H1456H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.462 299851 chr7 4841314 4841314 G A rs776489359 RADIL Nonsynonymous SNV L938F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.322 299852 chr19 41854215 41854215 G A rs764220658 TGFB1 Synonymous SNV H167H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.795 299853 chr7 143792599 143792599 C G OR2A12 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.741 299854 chr19 7982694 7982694 - GCTGGGCGCCGC TGFBR3L L283_A284insGAAL 0.001 0 0 0 1 0 0 0 0 0 0 0 299855 chr19 1109315 1109315 G A rs770087414 SBNO2 Synonymous SNV D1051D 0 0 0 1 0 0 0.003 0 0 0 0 0 2.574 299856 chr1 93576125 93576125 C T rs747153016 MTF2 Synonymous SNV C76C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 299857 chr1 95428622 95428622 T G rs150229857 LOC729970 0 0 0.003 0 0 0 0 1 0 0 0 0 5.045 299858 chr19 12384331 12384331 G A ZNF44 Nonsynonymous SNV H215Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 299859 chr7 88964826 88964826 C A rs754310291 ZNF804B Nonsynonymous SNV P844T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.929 299860 chr8 1904983 1904983 C T rs200779877 ARHGEF10 Nonsynonymous SNV H1159Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 7.9 299861 chr19 1465820 1465825 GGCCAA - rs760821345 APC2 A844_K845del 0 0 0 1 0 0 0.003 0 0 0 0 0 299862 chr19 14094020 14094020 G T rs199614802 RFX1 Synonymous SNV T164T 0.003 0 0 0 3 0 0 0 0 0 0 0 8.428 299863 chr7 943794 943794 C T rs377425159 ADAP1 Nonsynonymous SNV R111H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 299864 chr19 38948700 38948700 C T rs753681666 RYR1 Synonymous SNV P645P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 14.06 299865 chr20 17602103 17602103 C T rs7344647 RRBP1 Synonymous SNV T1138T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.01 299866 chr20 17602364 17602364 G A rs61733413 RRBP1 Nonsynonymous SNV H1099Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.83 299867 chr20 17606189 17606189 C T rs138961940 RRBP1 Nonsynonymous SNV E1008K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 299868 chr7 99077345 99077345 A G ZNF789 Nonsynonymous SNV N12S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.045 299869 chr20 17705798 17705798 T C BANF2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 299870 chr19 4651932 4651932 C T TNFAIP8L1 Synonymous SNV L17L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.063 299871 chr20 2306553 2306553 G A rs139599978 TGM3 Nonsynonymous SNV G348S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.378 299872 chr8 10470413 10470413 C T rs374843101 RP1L1 Nonsynonymous SNV G399R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.224 299873 chr8 110255529 110255529 G T NUDCD1 Synonymous SNV G458G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.698 299874 chr20 23618434 23618434 G A rs539861839 CST3 Synonymous SNV S22S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.938 299875 chr20 25405913 25405913 G T GINS1 Nonsynonymous SNV G133C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 299876 chr19 16643843 16643843 C T rs376326771 CHERP Synonymous SNV T167T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 299877 chr19 16918442 16918442 T C NWD1 Nonsynonymous SNV L1055P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 299878 chr8 120569864 120569864 A G rs770974534 ENPP2 Nonsynonymous SNV I830T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 299879 chr19 42461204 42461204 C G RABAC1 Synonymous SNV L145L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.99 299880 chr20 33623039 33623039 G A rs201995082 TRPC4AP Nonsynonymous SNV T313M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 299881 chr19 17653007 17653007 C T NIBAN3 Synonymous SNV A168A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 299882 chr20 34312519 34312519 G A rs201991978 RBM39 Synonymous SNV G198G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 299883 chr8 22006242 22006242 G A rs773928888 LGI3 Nonsynonymous SNV H360Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 299884 chr19 17654192 17654192 T C rs140048862 NIBAN3 Nonsynonymous SNV C223R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.731 299885 chr19 44377836 44377836 T C rs765700292 ZNF404 Nonsynonymous SNV H174R 0.003 0 0 0 3 0 0 0 0 0 0 0 23 299886 chr19 44570961 44570961 G A rs76427641 ZNF223 Nonsynonymous SNV R327H 0.003 0 0 0 3 0 0 0 0 0 0 0 6.854 299887 chr8 142228260 142228260 C A SLC45A4 Synonymous SNV T442T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.48 299888 chr1 11116147 11116147 G A rs373095782 SRM Synonymous SNV P180P 0.003 0 0 0 3 0 0 0 0 0 0 0 14.33 299889 chr19 9639227 9639227 G A rs749347897 ZNF426 Synonymous SNV H460H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 299890 chr19 18899520 18899520 C G rs768437153 COMP Nonsynonymous SNV G215R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 29.6 299891 chr19 19378803 19378803 G T rs181728218 TM6SF2 Synonymous SNV R235R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 299892 chr8 27886891 27886891 C T rs377371556 NUGGC Synonymous SNV A682A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 299893 chr19 19822198 19822198 C T rs375981716 ZNF14 Nonsynonymous SNV R631Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.59 299894 chr20 47267958 47267958 G A rs143006779 PREX1 Synonymous SNV R877R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 299895 chr1 115164593 115164593 A T rs969156546 DENND2C Nonsynonymous SNV L384M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 299896 chr19 21300914 21300914 T C rs775915612 ZNF714 Nonsynonymous SNV C482R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.37 299897 chr20 49551689 49551689 T C rs748394583 DPM1 Nonsynonymous SNV T232A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.01 299898 chr8 38258429 38258429 A C LETM2 Nonsynonymous SNV E233A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 299899 chr19 2477515 2477515 C T rs148464154 GADD45B Synonymous SNV H133H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.08 299900 chr19 4512424 4512424 G A rs61730735 PLIN4 Synonymous SNV T516T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.909 299901 chr8 53852560 53852560 G T rs368313385 NPBWR1 Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.823 299902 chr1 12030842 12030842 C T rs760314787 PLOD1 Nonsynonymous SNV T624M 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 34 299903 chr19 327893 327893 G A rs144429558 MIER2 Nonsynonymous SNV P78S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.041 299904 chr20 60897399 60897399 C T rs768141178 LAMA5 Nonsynonymous SNV R2091Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.129 299905 chr19 48183897 48183897 G C BICRA Synonymous SNV P490P 0.003 0 0 0 3 0 0 0 0 0 0 0 4.337 299906 chr19 48253530 48253530 C G NOP53 Nonsynonymous SNV P129A 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 299907 chr8 81553610 81553610 G A rs150651374 ZNF704 Synonymous SNV F410F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 299908 chr8 1905315 1905315 G T ARHGEF10 Synonymous SNV L1269L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.248 299909 chr8 2040335 2040335 A G MYOM2 Nonsynonymous SNV I664V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.518 299910 chr8 21965061 21965061 C T rs199840400 NUDT18 Nonsynonymous SNV C241Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 299911 chr8 22019383 22019383 G A rs199905878 SFTPC Synonymous SNV P14P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.925 299912 chr19 55179109 55179109 C G rs755663839 LILRB4 Synonymous SNV P385P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.14 299913 chr19 37240235 37240235 A G ZNF850 Synonymous SNV S537S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 299914 chr19 37368071 37368071 T G ZNF345 Synonymous SNV T113T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.087 299915 chr19 49564858 49564858 G A rs144842220 NTF4 Nonsynonymous SNV R133C 0.003 0 0 0 3 0 0 0 0 0 0 0 32 299916 chr8 100133450 100133450 A G rs181625846 VPS13B Nonsynonymous SNV H328R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.645 299917 chr8 100520071 100520071 C T rs376954713 VPS13B Nonsynonymous SNV R1411C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 299918 chr8 23159659 23159659 C T rs202213124 LOXL2 Nonsynonymous SNV E672K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 299919 chr1 12266796 12266796 G T TNFRSF1B 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 299920 chr1 152324587 152324587 C T FLG2 Nonsynonymous SNV G1892D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 299921 chr19 50140314 50140314 G A rs756447228 RRAS Nonsynonymous SNV P76L 0.003 0 0 0 4 0 0 0 0 0 0 0 23.9 299922 chr8 26513197 26513197 G A DPYSL2 Nonsynonymous SNV R670H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 299923 chr21 33641384 33641384 G A rs80027634 MIS18A Synonymous SNV A222A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 299924 chr8 116426366 116426366 T C rs201029096 TRPS1 Nonsynonymous SNV Q1248R 0.001 0 0 0 1 0 0 0 0 0 0 0 25 299925 chr21 34003377 34003377 G A rs747245690 SYNJ1 Synonymous SNV T1503T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.916 299926 chr21 34876539 34876539 T C rs374976462 GART Synonymous SNV R975R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.066 299927 chr8 3611499 3611499 G C rs371950532 CSMD1 Nonsynonymous SNV T295S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 299928 chr8 37732452 37732452 G C rs778901004 RAB11FIP1 Synonymous SNV A401A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.717 299929 chr1 151881839 151881839 C G rs552104788 THEM4 Nonsynonymous SNV E32D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 299930 chr19 39691313 39691313 A - NCCRP1 K249Rfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 299931 chr1 155005160 155005160 T C rs376003986 DCST2 Nonsynonymous SNV D175G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 299932 chr8 39325207 39325207 G A rs779447017 ADAM3A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.849 299933 chr8 41571749 41571749 C T rs370616969 ANK1 Synonymous SNV V575V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.66 299934 chr8 126443328 126443328 C A rs767050256 TRIB1 Nonsynonymous SNV P62T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 299935 chr1 156195434 156195434 C T PMF1 Nonsynonymous SNV A83V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.004 299936 chr1 153587769 153587769 G C rs375870977 S100A14 Nonsynonymous SNV T40R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 299937 chr21 43164043 43164043 G A rs780302675 RIPK4 Synonymous SNV S398S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.741 299938 chr1 156106932 156106932 A C rs878855233 LMNA Nonsynonymous SNV H394P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.96 299939 chr19 42866538 42866538 G A rs369807153 MEGF8 Synonymous SNV A1882A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.211 299940 chr21 45924729 45924731 TCT - rs782084367 TSPEAR E596del 0 0 0.003 0 0 0 0 1 0 0 0 0 299941 chr19 53856788 53856788 C G ZNF845 Nonsynonymous SNV R954G 0.003 0 0 0 3 0 0 0 0 0 0 0 11.56 299942 chr21 46925836 46925836 G C COL18A1 Nonsynonymous SNV E1235Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 299943 chr1 160093165 160093165 G A rs116711766 ATP1A2 Nonsynonymous SNV G114S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 22.8 299944 chr8 144733475 144733475 A G rs898546384 ZNF623 Nonsynonymous SNV Q478R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 299945 chr1 16563196 16563196 G A CPLANE2 Synonymous SNV N14N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.9 299946 chr9 101818582 101818582 C A COL15A1 Nonsynonymous SNV P1078Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25 299947 chr9 101818584 101818596 GGTGCTCCTGGTC - COL15A1 G1079Cfs*70 0 0 0.003 0 0 0 0 1 0 0 0 0 299948 chr1 164790851 164790851 G T rs533693615 PBX1 Synonymous SNV P313P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.334 299949 chr9 101818597 101818597 T A COL15A1 Nonsynonymous SNV L1083Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 299950 chr1 165376063 165376063 C T rs151269614 RXRG Synonymous SNV P287P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.59 299951 chr1 167345307 167345307 C T rs148064782 POU2F1 Synonymous SNV N148N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.97 299952 chr1 160920427 160920427 A G rs143503379 ITLN2 Synonymous SNV H172H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 299953 chr9 108456984 108456984 A C rs138722007 TMEM38B Nonsynonymous SNV T15P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 299954 chr19 8808851 8808851 C T ACTL9 Synonymous SNV G67G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.714 299955 chr22 24562790 24562790 C T rs146389146 CABIN1 Nonsynonymous SNV R1681W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 299956 chr19 46974058 46974058 G T rs116676666 PNMA8A Nonsynonymous SNV L79M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 299957 chr1 17296893 17296893 G A rs142083993 CROCC Nonsynonymous SNV R1866H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 299958 chr9 116132258 116132258 C T rs759679791 BSPRY Nonsynonymous SNV R354W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 299959 chr9 3330505 3330505 C T rs562377422 RFX3 Synonymous SNV T76T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 299960 chr22 30921037 30921037 C T rs200443600 SEC14L6 Nonsynonymous SNV V381M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 299961 chr1 171765854 171765854 G A rs61733151 EEF1AKNMT Synonymous SNV T530T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.03 299962 chr9 119160880 119160880 A C rs191712626 PAPPA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 299963 chr19 50172330 50172330 G - BCL2L12 G166Vfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 299964 chr1 200960059 200960059 G A rs143940329 KIF21B Synonymous SNV G891G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.638 299965 chr9 129642241 129642241 C T rs372194342 ZBTB34 Nonsynonymous SNV T184M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 299966 chr22 43275166 43275166 C T rs554664272 PACSIN2 Nonsynonymous SNV A306T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 299967 chr1 182787722 182787722 C T rs759558475 NPL Synonymous SNV T149T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 299968 chr1 182828237 182828237 T C rs373551086 DHX9 Synonymous SNV D375D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.799 299969 chr9 72131686 72131686 G A rs763231981 APBA1 Synonymous SNV P147P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.661 299970 chr22 46782385 46782385 C T rs182847226 CELSR1 Nonsynonymous SNV R2218Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.058 299971 chr9 78804134 78804134 C T rs764704447 PCSK5 Synonymous SNV C835C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.23 299972 chr19 53348489 53348489 G C ZNF468 Nonsynonymous SNV P68R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.198 299973 chr9 91653075 91653075 C T rs149700558 SHC3 Nonsynonymous SNV E497K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 25.2 299974 chr19 54314290 54314290 T G rs771274238 NLRP12 Nonsynonymous SNV E208A 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 299975 chr9 95947655 95947655 G T WNK2 Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.314 299976 chr2 10582042 10582042 C T rs778262198 ODC1 Synonymous SNV S180S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 299977 chr9 139270898 139270898 G A SNAPC4 Synonymous SNV S1440S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.078 299978 chr19 53410579 53410579 G A ZNF888 Synonymous SNV G332G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.705 299979 chr19 53644841 53644841 A G ZNF347 Nonsynonymous SNV S415P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 299980 chr1 1275082 1275082 T C rs200363718 MIR6808 0 0.005 0 0 0 2 0 0 0 0 0 0 0.65 299981 chr1 210010379 210010379 G A rs200536666 UTP25 Synonymous SNV P295P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.352 299982 chr9 15745623 15745623 A - rs765788368 CCDC171 A898Qfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 299983 chr1 214557167 214557167 G A rs770086401 PTPN14 Synonymous SNV P677P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.775 299984 chr1 22170712 22170712 C A rs147114700 HSPG2 Nonsynonymous SNV V2850L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 15.59 299985 chr2 141665600 141665600 G A rs774268974 LRP1B Synonymous SNV C1122C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 299986 chr9 117266974 117266974 A G WHRN Synonymous SNV S36S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.097 299987 chr2 152220497 152220497 C T TNFAIP6 Synonymous SNV G45G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 299988 chr9 124532938 124532938 G A rs371535507 DAB2IP Synonymous SNV P547P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 299989 chr19 57888675 57888675 G A rs114959714 ZNF547 Nonsynonymous SNV E111K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.098 299990 chr19 57910116 57910116 C A rs199566402 ZNF548 Nonsynonymous SNV T154K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 299991 chr19 56934550 56934550 C G rs975373634 ZNF583 Nonsynonymous SNV Q175E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.53 299992 chr19 57954808 57954808 C T rs61747534 ZNF749 Nonsynonymous SNV H11Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.144 299993 chr1 235922480 235922480 G T rs375665715 LYST Nonsynonymous SNV R2225S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 299994 chr1 223178503 223178503 C T DISP1 Nonsynonymous SNV P1255L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 299995 chr19 57293483 57293483 C G rs200378470 ZIM2 Nonsynonymous SNV D162H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.18 299996 chr19 5778499 5778499 G A rs371791746 CATSPERD Nonsynonymous SNV V737I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 299997 chr9 72897417 72897417 A C rs779601986 SMC5 Nonsynonymous SNV K300T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 299998 chr9 127661687 127661687 C T rs755477038 GOLGA1 Nonsynonymous SNV R411H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 299999 chr1 236990188 236990188 T C MTR Synonymous SNV D329D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.602 300000 chr9 130656849 130656849 G A rs371738264 ST6GALNAC6 Nonsynonymous SNV P46L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 300001 chr19 621120 621120 G A rs779119991 POLRMT Nonsynonymous SNV R860C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 300002 chr19 648483 648483 G A rs775675970 RNF126 Synonymous SNV S198S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.68 300003 chr19 59022144 59022144 C T rs149015959 SLC27A5 Nonsynonymous SNV R197H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 300004 chr19 6165951 6165951 G A rs749441786 ACSBG2 Synonymous SNV A221A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.288 300005 chr1 12416113 12416113 C G rs774327993 VPS13D Nonsynonymous SNV F3254L 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 300006 chr1 1247273 1247273 A G INTS11 Nonsynonymous SNV L492P 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 300007 chr9 96030124 96030124 A G WNK2 Nonsynonymous SNV T1265A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 300008 chr1 231696971 231696971 G A rs372994168 TSNAX Synonymous SNV T155T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 300009 chr19 740442 740442 C T rs145774078 PALM Nonsynonymous SNV P198L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.64 300010 chr1 146727567 146727567 A C rs781947289 CHD1L Synonymous SNV L49L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.104 300011 chr2 186665252 186665252 C A rs554210799 FSIP2 Nonsynonymous SNV T3740N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 300012 chr9 138679984 138679984 C T KCNT1 Nonsynonymous SNV R1136W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 300013 chr9 138903400 138903400 C G NACC2 Nonsynonymous SNV A576P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 300014 chr1 16535436 16535436 G A ARHGEF19 Synonymous SNV P38P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.04 300015 chr1 24447527 24447527 A C rs764083402 IL22RA1 Nonsynonymous SNV L498R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 300016 chr2 192550444 192550444 A G rs766365556 NABP1 Nonsynonymous SNV M189V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 300017 chrX 153219998 153219998 G A rs781889463 HCFC1 Synonymous SNV T1284T 0 0 0.007 0 0 0 0 2 0 0 1 0 2.759 300018 chr1 31660918 31660918 G A rs145076424 NKAIN1 Synonymous SNV Y57Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.769 300019 chrX 17394091 17394091 C T rs398124605 NHS Nonsynonymous SNV P71S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 0.019 300020 chr1 245862256 245862256 G A rs774064902 KIF26B Nonsynonymous SNV R2032H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 300021 chr1 32560427 32560427 C G rs200998933 TMEM39B Nonsynonymous SNV L125V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 300022 chr10 3189349 3189349 T C PITRM1 Nonsynonymous SNV N679D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.379 300023 chr1 248201937 248201937 T C rs140738908 OR2L2 Nonsynonymous SNV V123A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 300024 chr2 209218845 209218845 G A rs756459252 PIKFYVE Nonsynonymous SNV R2023Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 300025 chr2 211069316 211069316 C T ACADL Nonsynonymous SNV E287K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 300026 chr2 212537978 212537978 A T rs141594820 ERBB4 Nonsynonymous SNV F543I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.77 300027 chr19 9578017 9578017 G A rs764339511 ZNF560 Stop gain R430X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 300028 chr1 25667024 25667024 G T rs147456847 TMEM50A Nonsynonymous SNV W16L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.05 300029 chr10 12856200 12856200 C T rs137946643 CAMK1D Synonymous SNV C216C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 300030 chr10 104128119 104128119 C T rs771460264 GBF1 Synonymous SNV T929T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 300031 chr10 17735288 17735290 AAG - rs782448056 STAM E77del 0.001 0 0 0 1 0 0 0 0 0 0 0 300032 chr1 31905947 31905947 G A rs139258648 SERINC2 Nonsynonymous SNV G387S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 300033 chr10 114901056 114901056 C T rs771577364 TCF7L2 Synonymous SNV A79A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 300034 chr2 225781477 225781477 G A rs201679247 DOCK10 Nonsynonymous SNV R84C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 300035 chr10 31137537 31137537 C T rs144656513 ZNF438 Synonymous SNV A599A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.459 300036 chr10 122626152 122626152 G A rs34304988 WDR11 Nonsynonymous SNV V356I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.6 300037 chr10 123724885 123724885 G A rs368853068 NSMCE4A Synonymous SNV Y223Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.267 300038 chr1 38397674 38397674 C T INPP5B Nonsynonymous SNV R126K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 300039 chr10 125528068 125528068 C G rs367761553 CPXM2 Nonsynonymous SNV D425H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 300040 chr10 126694193 126694193 G A rs767173873 CTBP2 Nonsynonymous SNV A62V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.419 300041 chr1 17296814 17296814 C T rs747608578 CROCC Nonsynonymous SNV R1840W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 300042 chr2 234698202 234698202 G C MROH2A Nonsynonymous SNV E112D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 300043 chr10 128860032 128860032 C T rs768105994 DOCK1 Nonsynonymous SNV R813W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 300044 chr1 44137365 44137365 G C KDM4A Nonsynonymous SNV R518P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.54 300045 chr2 238494691 238494691 G A RAB17 Nonsynonymous SNV A36V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 300046 chr1 20657389 20657389 C T rs372275354 VWA5B1 Synonymous SNV N495N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.94 300047 chr2 241810116 241810116 G A rs551537424 AGXT Synonymous SNV E138E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.735 300048 chr2 241810117 241810117 G A AGXT Nonsynonymous SNV V139M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 300049 chr10 64944381 64944381 C T rs79059103 JMJD1C Synonymous SNV L2097L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.16 300050 chr10 67680207 67680207 - T rs759618368 CTNNA3 Frameshift insertion P857Tfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 300051 chr2 242047703 242047703 C T rs143703586 PASK Synonymous SNV P1189P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.52 300052 chr2 242062234 242062234 G A PASK Synonymous SNV Y995Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 300053 chr1 79128460 79128460 G A rs201896633 IFI44 Synonymous SNV E395E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.15 300054 chr2 25965179 25965179 A G ASXL2 Nonsynonymous SNV S1083P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 300055 chr10 72489892 72489892 G A rs756453410 ADAMTS14 Nonsynonymous SNV R330H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 300056 chr2 26644264 26644264 C T rs142371860 DRC1 Stop gain Q118X 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 37 300057 chr1 155733251 155733251 T G GON4L Nonsynonymous SNV E1526D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 300058 chr2 27360685 27360685 A G rs144909666 PRR30 Synonymous SNV S171S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.541 300059 chr10 76790093 76790093 C T rs757121198 KAT6B Synonymous SNV S1056S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.44 300060 chr10 79581744 79581744 C T rs780166662 DLG5 Nonsynonymous SNV R833Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 300061 chr10 34671513 34671513 T C rs139550735 PARD3 Nonsynonymous SNV N408D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 300062 chr1 158368716 158368716 C G rs148758700 OR10T2 Nonsynonymous SNV D181H 0 0 0 1 0 0 0.003 0 0 0 0 0 24 300063 chr1 201752911 201752911 C T rs1037109953 NAV1 Nonsynonymous SNV A521V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 300064 chr1 1565856 1565856 C T rs374713270 MIB2 Synonymous SNV S988S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 300065 chr2 47278918 47278918 G A rs781599404 TTC7A Nonsynonymous SNV R330Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 300066 chr1 6659292 6659292 G A rs143141370 KLHL21 Synonymous SNV N414N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.438 300067 chr10 96493179 96493179 C T rs923222545 CYP2C18 Synonymous SNV F366F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.31 300068 chr10 61956333 61956333 G A rs761720092 ANK3 Synonymous SNV V563V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.848 300069 chr2 72371298 72371298 C T rs754278166 CYP26B1 Synonymous SNV V83V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 300070 chr2 73676965 73676965 G A rs201074268 ALMS1 Nonsynonymous SNV G1103D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 300071 chr10 103599572 103599572 C G KCNIP2 Nonsynonymous SNV R9P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 300072 chr10 74987900 74987900 G A rs575535158 FAM149B1 Synonymous SNV P327P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 300073 chr10 75533448 75533448 A G rs3740289 FUT11 Synonymous SNV K403K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.851 300074 chr10 75557715 75557715 G A ZSWIM8 Nonsynonymous SNV R1275H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 300075 chr10 79397355 79397355 - GCCGCCGCCGCTGCT rs764959353 KCNMA1 G15_G16insSSGGG 0 0 0.003 0 0 0 0 1 0 0 0 0 300076 chr2 96873993 96873993 G A STARD7 Synonymous SNV R60R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 300077 chr1 92789688 92789688 A G rs751076963 RPAP2 Nonsynonymous SNV K404R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.271 300078 chr10 88466306 88466306 G A rs753526743 LDB3 Synonymous SNV A305A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.02 300079 chr10 90983509 90983509 T A rs147493628 LIPA Nonsynonymous SNV I136L 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.43 300080 chr10 91178320 91178320 C G rs772032781 IFIT5 Nonsynonymous SNV A455G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 300081 chr1 93996347 93996347 C G rs770228375 FNBP1L Synonymous SNV A182A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 300082 chr1 179064123 179064123 C T rs148289694 TOR3A Nonsynonymous SNV R322C 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 300083 chr3 100352109 100352109 C T rs200895145 ADGRG7 Nonsynonymous SNV A112V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 300084 chr20 40102151 40102151 G C rs763850994 CHD6 Synonymous SNV T825T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.685 300085 chr20 1144967 1144967 G A rs148816301 PSMF1 Nonsynonymous SNV R116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.21 300086 chr10 128147613 128147613 C T C10orf90 Synonymous SNV L631L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.874 300087 chr1 182026328 182026328 C T ZNF648 Nonsynonymous SNV G273D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 300088 chr20 25655850 25655850 G A rs200934593 ZNF337 Stop gain R692X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 300089 chr20 31022441 31022441 A T rs1008390971 ASXL1 Synonymous SNV G581G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.247 300090 chr11 102713520 102713520 T C MMP3 Nonsynonymous SNV K78R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 300091 chr20 25258977 25258977 G A rs200576670 PYGB Nonsynonymous SNV R293Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 300092 chr11 106810564 106810564 T G rs138593429 GUCY1A2 Synonymous SNV L276L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.825 300093 chr3 126386046 126386046 A T NUP210P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.115 300094 chr20 30747884 30747884 C T rs375902671 TM9SF4 Synonymous SNV I536I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.95 300095 chr20 31657727 31657727 G A rs375472654 BPIFB3 Nonsynonymous SNV A395T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 300096 chr3 12977459 12977459 G A rs777397340 IQSEC1 Nonsynonymous SNV R353W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 300097 chr11 113704258 113704258 T C rs775959658 USP28 Nonsynonymous SNV M90V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 300098 chr11 836438 836438 G A rs758951148 CD151 Nonsynonymous SNV R91H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 300099 chr20 32878667 32878667 G A rs141172613 AHCY Synonymous SNV A212A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 300100 chr3 134851591 134851591 G A rs748976557 EPHB1 Nonsynonymous SNV V333I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 300101 chr3 134967181 134967181 C T rs201927689 EPHB1 Synonymous SNV D840D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 300102 chr11 120996309 120996309 C T rs148426950 TECTA Nonsynonymous SNV S501F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.6 300103 chr21 32598201 32598201 G A rs764642315 TIAM1 Synonymous SNV V550V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.603 300104 chr21 32638870 32638870 G A TIAM1 Nonsynonymous SNV T140I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 300105 chr1 217783665 217783665 T C GPATCH2 Nonsynonymous SNV M366V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.761 300106 chr21 35497728 35497728 C T MRPS6 Stop gain R45X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 300107 chr20 49510290 49510290 T C ADNP Nonsynonymous SNV M321V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.517 300108 chr20 51870668 51870668 A C TSHZ2 Nonsynonymous SNV Y221S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 300109 chr11 126215441 126215441 C G rs137941190 DCPS Nonsynonymous SNV T323R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 300110 chr11 1432675 1432675 G A rs553621737 BRSK2 Nonsynonymous SNV R14H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 300111 chr1 22030011 22030011 A C rs377256025 USP48 Nonsynonymous SNV N805K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 300112 chr21 43535989 43535989 G A rs200103051 UMODL1 Nonsynonymous SNV R846Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.53 300113 chr20 60737902 60737902 C T rs754141025 SS18L1 Synonymous SNV P157P 0 0 0 2 0 0 0.005 0 0 0 0 0 10.43 300114 chr3 183959541 183959541 C G VWA5B2 Synonymous SNV T930T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.123 300115 chr1 22199128 22199128 G A rs373144343 HSPG2 Synonymous SNV A1339A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.673 300116 chr20 5924640 5924640 G A rs148182864 TRMT6 Nonsynonymous SNV R166C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 300117 chr20 60910147 60910147 G A rs140067060 LAMA5 Synonymous SNV C804C 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 3.332 300118 chr11 15199976 15199976 C T rs779561005 INSC Synonymous SNV L188L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 300119 chr11 3681400 3681400 C A rs141734720 ART1 Synonymous SNV T217T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 300120 chr20 60970035 60970035 G A rs757461175 CABLES2 Nonsynonymous SNV A188V 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 300121 chr3 195595149 195595149 C T rs746486555 TNK2 Nonsynonymous SNV V691I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.096 300122 chr21 47808778 47808778 G A rs758277603 PCNT Nonsynonymous SNV A1078T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.933 300123 chr1 22987744 22987744 C T rs149718049 C1QB Synonymous SNV T209T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.87 300124 chr3 196735763 196735763 T C rs147554015 MELTF Synonymous SNV A533A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 300125 chr11 2193001 2193001 C T rs74555599 TH Nonsynonymous SNV A6T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.094 300126 chr20 62338043 62338043 C T rs747917536 ARFRP1 Synonymous SNV G47G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.59 300127 chr20 746204 746204 A T rs751825591 SLC52A3 Nonsynonymous SNV V72E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 6.847 300128 chr1 235918887 235918887 G A rs748978832 LYST Nonsynonymous SNV R2374C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 300129 chr3 38224516 38224516 C A rs751743054 OXSR1 Synonymous SNV V31V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.39 300130 chr1 238051765 238051765 C T rs374547247 ZP4 Nonsynonymous SNV R149Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 300131 chr22 24236612 24236612 C T rs767714786 MIF-AS1 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.04 300132 chr22 25251646 25251646 C T rs373371981 SGSM1 Nonsynonymous SNV P267L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 300133 chr11 408082 408082 G A SIGIRR Stop gain Q111X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 300134 chr1 245912889 245912889 G A rs139195102 SMYD3 Synonymous SNV C421C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 300135 chr21 37785512 37785512 G A rs779427056 CHAF1B Synonymous SNV S464S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.774 300136 chr11 4673914 4673914 G T OR51E1 Nonsynonymous SNV R53L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 300137 chr11 4673915 4673915 G T OR51E1 Synonymous SNV R53R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 300138 chr11 46889637 46889637 C T rs776310716 LRP4 Synonymous SNV R1660R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 300139 chr21 41173202 41173202 G A rs762729201 IGSF5 Nonsynonymous SNV R381H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.453 300140 chr11 47188427 47188427 G A rs35950498 ARFGAP2 Nonsynonymous SNV R378W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 300141 chr22 31521659 31521659 C T rs778008297 INPP5J Nonsynonymous SNV P312S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 11.77 300142 chr21 43413073 43413073 A C rs146864981 ZBTB21 Nonsynonymous SNV C378G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 300143 chr21 43413785 43413785 A G rs147890930 ZBTB21 Synonymous SNV D140D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.878 300144 chr22 37420556 37420556 C T rs1001774198 MPST Synonymous SNV Y100Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 300145 chr1 248113047 248113047 G A rs1000084688 OR2L8 Synonymous SNV V296V 0 0 0 1 0 0 0.003 0 0 0 0 0 11 300146 chr22 38212602 38212602 C A GCAT Synonymous SNV P405P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 300147 chr3 49058091 49058091 T C rs746899790 MIR191 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 300148 chr3 49314049 49314049 G A rs754804103 C3orf62 Nonsynonymous SNV P86L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 300149 chr3 49756889 49756889 A G rs770055927 AMIGO3 Synonymous SNV L4L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 300150 chr3 52014952 52014952 G A rs777904784 ABHD14A Nonsynonymous SNV R245H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.946 300151 chr3 52400835 52400835 C T rs115818632 DNAH1 Synonymous SNV Y1899Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.99 300152 chr22 42276741 42276741 G A rs202148091 SREBF2 Nonsynonymous SNV G595S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.19 300153 chr3 52426872 52426872 G A rs75513160 DNAH1 Synonymous SNV T3435T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.36 300154 chr3 52554942 52554942 C T rs116505916 STAB1 Synonymous SNV G1943G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.487 300155 chr22 17663527 17663527 G A ADA2 Synonymous SNV D161D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.066 300156 chr11 17474818 17474818 C T rs763028380 ABCC8 Nonsynonymous SNV G342R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 300157 chr3 52833885 52833885 C T rs74587399 ITIH3 Synonymous SNV P341P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.57 300158 chr3 56716901 56716901 C T TASOR Nonsynonymous SNV G45D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.011 300159 chr11 19954915 19954915 G A rs758948604 NAV2 Synonymous SNV S311S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 300160 chr22 45750870 45750870 A C SMC1B Synonymous SNV T1029T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 300161 chr22 22292621 22292621 G A rs762233381 LOC100286925 0.001 0 0 0 1 0 0 0 0 0 0 0 4.475 300162 chr22 50686718 50686718 G T HDAC10 Synonymous SNV A319A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.869 300163 chr3 9785534 9785534 G A rs758262999 BRPF1 Nonsynonymous SNV G862R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 300164 chr11 43702443 43702443 A G HSD17B12 Synonymous SNV L22L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.533 300165 chr1 40981125 40981125 G C rs143854022 EXO5 Synonymous SNV L303L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.016 300166 chr1 41285066 41285066 C T KCNQ4 Synonymous SNV A252A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.55 300167 chr4 102269881 102269881 C T rs917334375 FLJ20021 0 0 0.007 0 0 0 0 2 0 0 0 0 17.7 300168 chr4 103488212 103488212 G A NFKB1 Synonymous SNV L108L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 300169 chr20 44048987 44048987 G A rs578178905 PIGT Nonsynonymous SNV R160Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 300170 chr11 47355240 47355240 T C MYBPC3 Nonsynonymous SNV S1020G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 13.6 300171 chr22 30210699 30210699 G C rs772317204 ASCC2 Nonsynonymous SNV P45A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 300172 chr22 30980679 30980679 G A rs141115125 PES1 Nonsynonymous SNV R132W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 300173 chr20 44691159 44691159 C T rs763283120 NCOA5 Nonsynonymous SNV G402E 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 300174 chr4 110451520 110451520 C T rs141827728 SEC24B Nonsynonymous SNV S1016F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 300175 chr22 31289126 31289126 C G rs200850356 OSBP2 Synonymous SNV P173P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.597 300176 chr4 1165180 1165180 C A rs543108170 SPON2 Synonymous SNV A105A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.83 300177 chr22 36690298 36690298 C A rs200697030 MYH9 Nonsynonymous SNV R1226L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 300178 chr22 31850208 31850208 G A rs752079647 EIF4ENIF1 Synonymous SNV D315D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 300179 chr1 47882815 47882815 C G rs887265865 FOXE3 Synonymous SNV P276P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.9 300180 chr22 32829740 32829740 T C rs760713579 BPIFC Nonsynonymous SNV Q315R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.418 300181 chr22 38347491 38347491 G A rs141612323 C22orf23 Nonsynonymous SNV R48C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 300182 chr4 139104414 139104414 T C rs76702927 SLC7A11 Nonsynonymous SNV I321V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.206 300183 chr11 60183297 60183297 C A MS4A14 Nonsynonymous SNV P269T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 300184 chr4 154556723 154556723 G A TMEM131L Synonymous SNV P1519P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.59 300185 chr4 159627854 159627854 C T ETFDH Synonymous SNV I453I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 300186 chr11 62621295 62621295 G T SNHG1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.5 300187 chr2 160019961 160019961 A G rs373966014 TANC1 Nonsynonymous SNV T283A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 300188 chr11 65265540 65265540 C A rs748369719 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.402 300189 chr11 65272519 65272519 C T rs773901429 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.27 300190 chr2 101582228 101582228 C T rs769801120 NPAS2 Synonymous SNV L303L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.92 300191 chr4 24821552 24821552 C A CCDC149 Nonsynonymous SNV G363V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 300192 chr1 908623 908623 A G PLEKHN1 Nonsynonymous SNV S416G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 300193 chr1 908706 908706 G C PLEKHN1 Nonsynonymous SNV Q443H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 300194 chr11 67177216 67177216 C T rs753308134 TBC1D10C Synonymous SNV T343T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 300195 chr11 6898080 6898080 T C rs768293194 OR10A4 Nonsynonymous SNV S68P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 300196 chr20 62226964 62226964 G A rs547721594 GMEB2 Synonymous SNV D206D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.432 300197 chr2 135756458 135756458 C T MAP3K19 Nonsynonymous SNV V142I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 300198 chr4 48422292 48422292 C T rs759874368 SLAIN2 Nonsynonymous SNV P504L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.83 300199 chr11 73078763 73078763 A G rs767415172 ARHGEF17 Nonsynonymous SNV S2044G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.184 300200 chr21 45705955 45705955 G T rs1028887337 AIRE Synonymous SNV V22V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.793 300201 chr11 74800742 74800742 C T OR2AT4 Nonsynonymous SNV C6Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 300202 chr11 76207466 76207466 C T EMSY Nonsynonymous SNV P440L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 300203 chr4 5990083 5990083 A G rs758066821 C4orf50 Synonymous SNV N1051N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 300204 chr11 65113746 65113746 C T rs770082049 DPF2 Synonymous SNV P311P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 300205 chr4 6606957 6606957 G A rs139602555 MAN2B2 Nonsynonymous SNV R521H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.143 300206 chr20 21336779 21336779 C G XRN2 Nonsynonymous SNV D772E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 300207 chr4 68488550 68488550 T A UBA6 Nonsynonymous SNV T1008S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 300208 chr11 65546372 65546372 G A rs202134389 AP5B1 Nonsynonymous SNV P531L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 300209 chr11 78380546 78380546 T C TENM4 Nonsynonymous SNV N2282D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 300210 chr2 16080210 16080210 T C rs181162426 MYCNOS 0.001 0 0 0 1 0 0 0 0 0 0 0 7.01 300211 chr2 165551767 165551767 T C rs1011860684 COBLL1 Nonsynonymous SNV N712S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.644 300212 chr11 82876974 82876974 A C PCF11 Nonsynonymous SNV K345N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 300213 chr11 66249736 66249736 C T rs142478050 DPP3 Nonsynonymous SNV A22V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 300214 chr11 85435144 85435146 CTT - rs769784005 SYTL2 E1752del 0 0 0.003 0 0 0 0 1 0 0 0 0 300215 chr11 66457379 66457379 T C SPTBN2 Nonsynonymous SNV Q1949R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 300216 chr4 72332247 72332247 C T rs766536612 SLC4A4 Synonymous SNV S484S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 300217 chr2 202568894 202568894 T C rs761983607 ALS2 Nonsynonymous SNV D1629G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 300218 chr11 8751614 8751614 T C rs752205075 ST5 Nonsynonymous SNV N408S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.61 300219 chr22 20230131 20230131 G A rs140080129 RTN4R Synonymous SNV R175R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.08 300220 chr11 92599936 92599936 G A FAT3 Synonymous SNV L3896L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 300221 chr2 175201677 175201677 T C rs771290429 SP9 Synonymous SNV A288A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.122 300222 chr2 175287616 175287616 A G SCRN3 Nonsynonymous SNV N246S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 300223 chr11 94352943 94352943 T C rs149230455 PIWIL4 Nonsynonymous SNV I729T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 300224 chr4 8046945 8046945 G C rs745656613 ABLIM2 Nonsynonymous SNV S39R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 300225 chr2 179418346 179418346 C T rs72648237 TTN Nonsynonymous SNV V20731M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 300226 chr22 23498207 23498207 C T rs374813820 RAB36 Nonsynonymous SNV R194W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 300227 chr12 100441969 100441969 C A UHRF1BP1L Nonsynonymous SNV D1242Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 300228 chr4 83860803 83860803 C T rs148712372 LIN54 Synonymous SNV L354L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 300229 chr2 179458701 179458701 T C rs186563991 TTN Synonymous SNV Q10408Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.974 300230 chr2 179459199 179459199 C T rs536645864 TTN Nonsynonymous SNV S10276N 0.003 0 0 0 3 0 0 0 0 0 0 0 16.49 300231 chr2 179468920 179468920 C T rs574313741 TTN Nonsynonymous SNV R9100H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 300232 chr12 10251436 10251436 G A rs765052318 CLEC1A Nonsynonymous SNV T29I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 300233 chr20 42826154 42826154 A T rs747801529 OSER1 Nonsynonymous SNV D139E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.148 300234 chr4 86916209 86916281 TCTGGTACCAAAATGGGCACGCACAGTGTACAGAATGGAACGGTGCGCATGGGCATTTTGAACAGCGACACAC - ARHGAP24 K278Pfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 300235 chr4 88029463 88029463 C T rs150115118 AFF1 Nonsynonymous SNV P141L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 300236 chr22 26688866 26688866 C T SEZ6L Nonsynonymous SNV P197S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.2 300237 chr20 43850949 43850949 G T rs368513832 SEMG2 Nonsynonymous SNV V226L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 300238 chr4 89425397 89425397 C G rs137915296 HERC5 Nonsynonymous SNV S866C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 300239 chr2 186657368 186657368 G A rs752098283 FSIP2 Synonymous SNV S1835S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.37 300240 chr2 190554310 190554310 A G rs112377488 ANKAR Nonsynonymous SNV N220S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 300241 chr5 111755907 111755907 A C EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 4.94 300242 chr20 49510397 49510397 G T ADNP Nonsynonymous SNV P285Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.703 300243 chr2 223559116 223559116 A C rs80203979 MOGAT1 Nonsynonymous SNV M172L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 300244 chr2 201726184 201726184 T A CLK1 Nonsynonymous SNV Y98F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 300245 chr12 113344897 113344897 A G rs373546690 OAS1 Nonsynonymous SNV D18G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.151 300246 chr2 228855798 228855798 G A rs995852907 SPHKAP Nonsynonymous SNV A1597V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 300247 chr20 57266130 57266130 G A rs201333359 STX16-NPEPL1 0 0 0 1 0 0 0.003 0 0 0 0 0 12.51 300248 chr20 57767132 57767132 C T rs199500451 ZNF831 Nonsynonymous SNV A353V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.052 300249 chr12 113445605 113445605 G A rs45519139 OAS2 Synonymous SNV P584P 0 0 0.007 0 0 0 0 2 0 0 0 0 9.053 300250 chr12 113629334 113629334 G A rs758134858 RITA1 Synonymous SNV P198P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.558 300251 chr21 46066774 46066774 G A rs372885931 KRTAP10-11 Synonymous SNV Q133Q 0.002 0 0 0 2 0 0 0 0 0 0 0 1.213 300252 chr12 120106129 120106129 G T rs61748075 PRKAB1 Nonsynonymous SNV G27V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 300253 chr2 207041726 207041726 C T rs200278575 GPR1 Synonymous SNV A82A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.484 300254 chr20 60902697 60902697 T G LAMA5 Nonsynonymous SNV Q1609P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 300255 chr20 60928178 60928178 G A LAMA5-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.278 300256 chr22 28194276 28194276 G A rs749154826 MN1 Synonymous SNV G752G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.596 300257 chr2 21229937 21229937 G A rs755753053 APOB Nonsynonymous SNV S3268L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.01 300258 chr12 122966542 122966542 G A rs376519317 ZCCHC8 Synonymous SNV H198H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 300259 chr20 62038381 62038381 C T rs139587368 KCNQ2 Synonymous SNV P717P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 10.71 300260 chr12 123481073 123481073 A T rs752293118 PITPNM2 Nonsynonymous SNV C572S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 300261 chr2 215275026 215275026 G A rs80016542 SPAG16 Nonsynonymous SNV R628Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 300262 chr2 238289664 238289664 G T rs76576170 COL6A3 Nonsynonymous SNV F190L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.98 300263 chr11 118627946 118627946 T C rs541533194 DDX6 Synonymous SNV E348E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.762 300264 chr12 125478382 125478387 CTGCTG - BRI3BP L24_L25del 0 0 0.003 0 0 0 0 1 0 0 0 0 300265 chr12 13028677 13028677 A T RPL13AP20 0 0 0.003 0 0 0 0 1 0 0 0 0 3.812 300266 chr20 62851283 62851283 G A rs372769741 MYT1 Nonsynonymous SNV R730Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 300267 chr2 219564014 219564014 G A rs148113887 STK36 Synonymous SNV V1228V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.753 300268 chr11 121458828 121458828 G A SORL1 Nonsynonymous SNV G1305E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 300269 chr2 241537306 241537306 T C rs114120181 CAPN10 Nonsynonymous SNV V427A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.83 300270 chr2 220288540 220288540 G A rs200580581 DES Nonsynonymous SNV R429Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 300271 chr12 133363342 133363342 G A rs202198935 GOLGA3 Nonsynonymous SNV A948V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 300272 chr2 216251638 216251638 G A rs1027848692 FN1 Synonymous SNV A1371A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.606 300273 chr20 62195600 62195600 C A HELZ2 Synonymous SNV V956V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.527 300274 chr20 62200198 62200198 C T rs779487005 HELZ2 Nonsynonymous SNV V415I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.572 300275 chr20 62200248 62200248 G A rs954148112 HELZ2 Nonsynonymous SNV P398L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 300276 chr22 50693723 50693723 G A MAPK12 Synonymous SNV P299P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.308 300277 chr22 50752274 50752274 C T rs372222188 DENND6B Nonsynonymous SNV R391H 0 0.003 0 0 0 1 0 0 0 0 0 0 31 300278 chr21 34123313 34123313 G A rs142064884 PAXBP1 Synonymous SNV T546T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.59 300279 chr12 27470899 27470899 G C rs199877736 STK38L Synonymous SNV L342L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.99 300280 chr2 3504672 3504672 C T rs780001458 ADI1 Synonymous SNV E105E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 300281 chr2 3599813 3599813 G A rs70937039 RNASEH1 Synonymous SNV S84S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.729 300282 chr12 44171458 44171458 C T rs375755560 IRAK4 Synonymous SNV L124L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.15 300283 chr12 46764564 46764564 C T rs959805467 SLC38A2 Nonsynonymous SNV E65K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 300284 chr2 238277782 238277782 C T rs772700553 COL6A3 Nonsynonymous SNV D835N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 300285 chr5 172113280 172113280 G A rs566022020 NEURL1B Synonymous SNV S286S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 300286 chr12 49086916 49086916 C T rs763437613 CCNT1 Nonsynonymous SNV R694Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 300287 chr12 49169177 49169177 C A ADCY6 Nonsynonymous SNV R630L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 300288 chr12 50029634 50029634 C T rs373066814 PRPF40B Synonymous SNV A406A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 300289 chr21 45797615 45797615 A G TRPM2 Nonsynonymous SNV I325V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.39 300290 chr2 44079755 44079755 G A rs34754243 ABCG8 Nonsynonymous SNV E238K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 33 300291 chr12 52214461 52214461 A G FIGNL2 Synonymous SNV S579S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 300292 chr5 178503473 178503473 G A rs138654012 ZNF354C Nonsynonymous SNV V19M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 300293 chr2 55253062 55253062 C T rs147845919 RTN4 Nonsynonymous SNV E519K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 300294 chr5 179260201 179260201 G A rs139482113 SQSTM1 Synonymous SNV A308A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.356 300295 chr12 52908948 52908948 G A rs368027956 KRT5 Synonymous SNV G517G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.369 300296 chr2 25523072 25523072 C A DNMT3A Nonsynonymous SNV R38L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 300297 chr22 50480054 50480054 C T rs146846158 TTLL8 Nonsynonymous SNV V312I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.627 300298 chr5 35068903 35068903 C T PRLR Nonsynonymous SNV A154T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 300299 chr2 29169337 29169337 A G rs371378758 WDR43 Nonsynonymous SNV D609G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 300300 chr21 46308778 46308778 C G ITGB2 Nonsynonymous SNV G637A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.58 300301 chr2 29416168 29416168 G A rs76150405 ALK Synonymous SNV A527A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.98 300302 chr5 43388467 43388467 T A CCL28 Nonsynonymous SNV D59V 0 0 0.007 0 0 0 0 2 0 0 0 0 29.5 300303 chr12 14613551 14613551 G A rs749790061 ATF7IP Nonsynonymous SNV V760I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 300304 chr12 57431749 57431749 C T MYO1A Nonsynonymous SNV R622Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 300305 chr2 44128524 44128524 G A rs113550898 LRPPRC Synonymous SNV L1168L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.323 300306 chr2 45169411 45169411 C T rs760535753 SIX3 Synonymous SNV G56G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.82 300307 chr12 26752256 26752256 C T rs191673689 ITPR2 Nonsynonymous SNV R1275Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 300308 chr2 97217644 97217644 G A rs747413578 ARID5A Nonsynonymous SNV R296Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 300309 chr12 27623588 27623588 A - SMCO2 N9Ifs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 300310 chr5 70785316 70785316 G A BDP1 Synonymous SNV K433K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 300311 chr22 31530044 31530044 G T rs375145825 INPP5J Nonsynonymous SNV R452L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 300312 chr12 7548796 7548796 C A CD163L1 Nonsynonymous SNV D659Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 300313 chr2 5833447 5833447 C T SOX11 Synonymous SNV Y198Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 300314 chr12 82750888 82750888 C T rs760805149 CCDC59 Synonymous SNV R105R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 300315 chr12 48105433 48105433 G A ENDOU Synonymous SNV I303I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.57 300316 chr5 78347168 78347168 T C DMGDH Synonymous SNV T229T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.103 300317 chr5 79961012 79961012 T C rs370894909 MSH3 Synonymous SNV L137L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.511 300318 chr5 80021325 80021325 A G rs35009542 MSH3 Nonsynonymous SNV Y465C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 300319 chr5 82808068 82808068 C T VCAN Synonymous SNV L299L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 300320 chr2 85581461 85581461 T C rs201975804 RETSAT Nonsynonymous SNV Q57R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 300321 chr3 121240995 121240995 T G rs1027956555 POLQ Synonymous SNV G370G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 300322 chr2 190617691 190617691 A G OSGEPL1 Synonymous SNV G337G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 300323 chr2 85991293 85991293 C T rs374950997 ATOH8 Synonymous SNV A316A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 300324 chr2 159514873 159514873 G A rs761999823 PKP4-AS1 0.003 0 0 0 3 0 0 0 0 0 0 0 16.63 300325 chr6 108227937 108227937 A G SEC63 Nonsynonymous SNV Y260H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.848 300326 chr6 110757099 110757099 G A rs376226084 SLC22A16 Synonymous SNV G459G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 300327 chr6 111697661 111697661 T C rs3218598 REV3L Nonsynonymous SNV S633G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.898 300328 chr13 113719350 113719350 C T rs374362212 MCF2L Nonsynonymous SNV S198L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 300329 chr3 127323592 127323592 G A rs2257836 MCM2 Synonymous SNV R126R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.35 300330 chr13 24443512 24443512 T G rs149856612 MIPEP Nonsynonymous SNV S288R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 300331 chr22 51014507 51014507 C T rs373214555 CPT1B Nonsynonymous SNV R211Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 300332 chr13 28197246 28197246 A G rs7334726 POLR1D Synonymous SNV R87R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.974 300333 chr2 100010801 100010801 G A EIF5B Synonymous SNV Q984Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.737 300334 chr2 100029249 100029249 C G rs767978619 REV1 Nonsynonymous SNV E705Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 300335 chr13 37269439 37269439 C T rs142538845 SERTM1 Nonsynonymous SNV S75F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 300336 chr6 137323281 137323281 T C IL20RA Nonsynonymous SNV H248R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 300337 chr2 85577246 85577246 G A RETSAT Nonsynonymous SNV T239I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 300338 chr3 134898817 134898817 C T rs529170249 EPHB1 Synonymous SNV I625I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.62 300339 chr2 95841980 95841980 T C rs551214158 ZNF2 Synonymous SNV A3A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.449 300340 chr2 95940535 95940535 C T rs370988812 PROM2 Nonsynonymous SNV R68C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 300341 chr12 67698980 67698980 A G rs762388182 CAND1 Nonsynonymous SNV Q511R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 300342 chr13 52391071 52391071 A G TMEM272 Nonsynonymous SNV F61S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 300343 chr13 61041444 61041444 G A rs765507725 TDRD3 Synonymous SNV L142L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 300344 chr13 77764419 77764419 A C rs767580468 MYCBP2 Synonymous SNV V1374V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.349 300345 chr2 228197306 228197306 - TGGCAGACTAAAAAGAGAGCGGTCTATGAGTGA MFF 0 0.003 0 0 0 1 0 0 0 0 0 0 300346 chr3 129268099 129268099 G A rs772072717 H1-8 Nonsynonymous SNV G73R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.275 300347 chr14 103336572 103336572 G A rs139127242 TRAF3 Nonsynonymous SNV A12T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 300348 chr2 141643730 141643730 C T rs369920158 LRP1B Nonsynonymous SNV R1314Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 300349 chr2 144764930 144764930 G A rs536703114 GTDC1 Stop gain R232X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 300350 chr3 133526636 133526636 G A SRPRB Nonsynonymous SNV S99N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 300351 chr14 105931094 105931094 G A rs781785634 MTA1 Synonymous SNV T476T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.099 300352 chr3 138037017 138037017 C T NME9 Synonymous SNV K29K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 300353 chr3 139258343 139258343 A G rs756769759 RBP1 Nonsynonymous SNV M73T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 300354 chr2 120362293 120362293 C T rs183561054 CFAP221 Synonymous SNV N279N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.689 300355 chr2 158114824 158114824 C T rs3739112 GALNT5 Nonsynonymous SNV P77L 0.001 0 0 2 1 0 0.005 0 0 0 0 0 16.67 300356 chr2 160035154 160035154 G A rs753420185 TANC1 Nonsynonymous SNV V463I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.91 300357 chr2 128477045 128477045 A G rs61730431 WDR33 Synonymous SNV L852L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.696 300358 chr12 113836644 113836644 G A rs35465493 SDS Synonymous SNV N67N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.38 300359 chr12 114377796 114377796 C T rs201979395 RBM19 Nonsynonymous SNV R636H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 300360 chr3 151171535 151171535 G A rs142596318 IGSF10 Stop gain R118X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 300361 chr12 120650228 120650228 G A rs756913255 PXN Synonymous SNV H569H 0.002 0 0 0 2 0 0 0 0 0 0 0 15.31 300362 chr14 23574051 23574051 C T rs1042635983 LMLN2 Nonsynonymous SNV E27K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 300363 chr14 23868166 23868166 G A rs374114140 MYH6 Synonymous SNV Y554Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.862 300364 chr6 39824229 39824229 C G DAAM2 Nonsynonymous SNV R51G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 300365 chr14 24710926 24710926 - A TINF2 Frameshift insertion K84Efs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 300366 chr6 43098286 43098286 C T rs114740372 PTK7 Synonymous SNV D241D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 300367 chr2 179393898 179393898 T A rs55725279 TTN Nonsynonymous SNV E26462V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.9 300368 chr2 179393900 179393900 A T rs55838839 TTN Synonymous SNV S26461S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.149 300369 chr2 179403919 179403919 T C rs760917372 TTN Nonsynonymous SNV S23850G 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.97 300370 chr2 179410721 179410721 G A rs142525903 TTN Nonsynonymous SNV R22683C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 300371 chr12 132241136 132241136 G A rs140641972 SFSWAP Nonsynonymous SNV G556E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 300372 chr14 35554839 35554839 A C PPP2R3C Nonsynonymous SNV V330G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 300373 chr2 179448450 179448450 G A rs56130023 TTN Nonsynonymous SNV T12755I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 300374 chr12 132426147 132426147 G A rs144648926 PUS1 Synonymous SNV K257K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.066 300375 chr6 49425405 49425405 T G MMUT Nonsynonymous SNV K251T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 300376 chr2 179597808 179597808 G A rs72648935 TTN Synonymous SNV N4121N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 3.131 300377 chr14 51099034 51099034 C - ATL1 Q547Nfs*54 0 0 0.003 0 0 0 0 1 0 0 0 0 300378 chr13 20978353 20978353 G A rs372602783 CRYL1 Nonsynonymous SNV P238L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.45 300379 chr3 189604274 189604274 C T TP63 Nonsynonymous SNV L302F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 300380 chr13 25459474 25459474 T G rs960794683 CENPJ Nonsynonymous SNV E1139D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 300381 chr14 56043840 56043840 C T rs139918565 KTN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.666 300382 chr6 63990304 63990304 C G rs574022940 LGSN Nonsynonymous SNV W384C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 300383 chr13 32913077 32913077 G A rs28897728 BRCA2 Nonsynonymous SNV G1529R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.2 300384 chr13 33628244 33628244 G A rs200112661 KL Nonsynonymous SNV R387H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 300385 chr3 16343228 16343230 AGG - rs758752216 OXNAD1 G196del 0 0 0 1 0 0 0.003 0 0 0 0 0 300386 chr3 197518294 197518294 C G LRCH3 Nonsynonymous SNV L49V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.08 300387 chr3 19921127 19921128 AT - rs747735412 EFHB M833Vfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 300388 chr6 79787213 79787213 C T PHIP Synonymous SNV R47R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 300389 chr3 4774852 4774852 C A rs758372914 ITPR1 Nonsynonymous SNV S1704R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.1 300390 chr3 27420834 27420834 T C rs752270669 SLC4A7 Nonsynonymous SNV I1074V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 300391 chr6 84834827 84834827 C G CEP162 Nonsynonymous SNV V1316L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 300392 chr13 48921996 48921996 G T RB1 Nonsynonymous SNV S179I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.86 300393 chr14 77273081 77273081 C T rs368520839 ANGEL1 Nonsynonymous SNV R353Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 300394 chr13 50115046 50115046 G A rs558841970 RCBTB1 Nonsynonymous SNV S474L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 300395 chr2 210940301 210940301 C G rs148038625 KANSL1L Nonsynonymous SNV S577T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 300396 chr2 31147078 31147078 C T rs142503378 GALNT14 Synonymous SNV K429K 0.003 0 0 0 3 0 0 0 0 0 0 0 18.95 300397 chr13 88328279 88328279 G A SLITRK5 Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.084 300398 chr2 39042767 39042767 C - DHX57 E1066Nfs*6 0.003 0 0 0 3 0 0 0 0 0 0 0 300399 chr2 219509462 219509462 G A rs373866465 ZNF142 Nonsynonymous SNV R593C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 300400 chr7 1027100 1027100 C T rs752143691 CYP2W1 Nonsynonymous SNV T359M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 300401 chr7 105148680 105148680 C T rs200210514 PUS7 Nonsynonymous SNV E94K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 300402 chr13 111088672 111088672 C A rs369814411 COL4A2 Synonymous SNV I261I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.81 300403 chr2 220417660 220417660 G A OBSL1 Synonymous SNV P1692P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.8 300404 chr7 107605082 107605082 C T rs138019069 LAMB1 Nonsynonymous SNV R538H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 300405 chr3 33420292 33420294 ACA - rs1033335707 FBXL2 N338del 0 0 0 1 0 0 0.003 0 0 0 0 0 300406 chr3 49063976 49063976 T A rs780501815 IMPDH2 Nonsynonymous SNV N296Y 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 300407 chr7 129945716 129945716 C T CPA4 Stop gain R150X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 300408 chr3 52282673 52282673 A G rs760285460 PPM1M Nonsynonymous SNV K100R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.4 300409 chr3 5255103 5255103 C T rs183693683 EDEM1 Nonsynonymous SNV P594S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 300410 chr7 139652442 139652442 G A rs962473395 TBXAS1 Synonymous SNV P181P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.275 300411 chr3 10387067 10387067 C T ATP2B2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 300412 chr7 141921313 141921313 C T MGAM2 Synonymous SNV T2334T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.374 300413 chr2 231678781 231678781 G A rs34597779 CAB39 Synonymous SNV E215E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 300414 chr7 142749654 142749654 A G rs373694316 OR6V1 Nonsynonymous SNV M73V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.257 300415 chr3 56667632 56667632 C T rs764600047 TASOR Nonsynonymous SNV E626K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 300416 chr7 142983609 142983609 C A rs768066519 TMEM139 Nonsynonymous SNV P113H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 300417 chr14 23888442 23888442 G A MYH7 Nonsynonymous SNV L1306F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 300418 chr7 143095867 143095867 - C EPHA1 Frameshift insertion V388Gfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 300419 chr14 23994300 23994300 G A ZFHX2 Synonymous SNV S1617S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.811 300420 chr4 128595358 128595358 C T INTU Nonsynonymous SNV P391S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 300421 chr3 58855205 58855205 G A rs373207749 C3orf67 Synonymous SNV S233S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.672 300422 chr3 64547152 64547152 C T rs143017614 ADAMTS9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.59 300423 chr3 65464335 65464335 T C rs61742506 MAGI1 Nonsynonymous SNV N230S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 300424 chr2 242028777 242028777 G A rs555436993 MTERF4 Nonsynonymous SNV R249C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.09 300425 chr14 31358746 31358746 T A rs574914268 LOC100506071 0.001 0 0 0 1 0 0 0 0 0 0 0 8.974 300426 chr7 150737931 150737931 G A rs751407189 ABCB8 Nonsynonymous SNV G381S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 300427 chr2 242138837 242138837 A C rs773981613 ANO7 Nonsynonymous SNV Q139P 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 300428 chr15 63053910 63053910 C T rs773933667 TLN2 Nonsynonymous SNV R1557C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 300429 chr2 242524058 242524058 T C rs757030411 THAP4 Nonsynonymous SNV Q154R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 300430 chr7 156752557 156752557 T G rs375611025 NOM1 Nonsynonymous SNV F442V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 300431 chr7 1574321 1574321 G C rs140557020 LOC100128653 0 0 0.003 0 0 0 0 1 0 0 0 0 0.942 300432 chr2 239072718 239072718 C T rs925085996 ERFE Synonymous SNV P230P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.578 300433 chr15 67479763 67479763 A G rs140880290 SMAD3 Nonsynonymous SNV N162S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.7 300434 chr2 26800421 26800421 C T rs190669732 FAM166C Nonsynonymous SNV T129M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.2 300435 chr15 72103821 72103821 A C rs2723341 NR2E3 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 17.89 300436 chr2 27656202 27656202 C T rs760536735 NRBP1 Nonsynonymous SNV S21L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.1 300437 chr3 66467601 66467601 G C rs61751733 LRIG1 Nonsynonymous SNV T152R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 300438 chr3 8579006 8579006 C T rs200446111 LMCD1 Synonymous SNV D16D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.49 300439 chr15 80454632 80454632 G A rs139268254 FAH Nonsynonymous SNV V137I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.74 300440 chr14 64935726 64935726 C T rs2230492 AKAP5 Nonsynonymous SNV S205F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 300441 chr7 43531734 43531734 G C rs61756577 HECW1 Nonsynonymous SNV V1065L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 300442 chr14 65262109 65262109 C T SPTB Synonymous SNV L530L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.31 300443 chr15 84488636 84488637 AT - ADAMTSL3 H146Lfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 300444 chr15 84488638 84488638 - AA ADAMTSL3 Stop gain Y147* 0 0 0.003 0 0 0 0 1 0 0 0 0 300445 chr4 123184741 123184741 A G rs368805442 KIAA1109 Nonsynonymous SNV N2376S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 300446 chr2 32613962 32613962 C G BIRC6 Nonsynonymous SNV P264A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 300447 chr15 88483885 88483885 G A rs767613437 NTRK3 Nonsynonymous SNV P464L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 300448 chr14 77928546 77928546 C T rs35913082 AHSA1 Synonymous SNV I105I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 17.87 300449 chr14 77934431 77934431 G A rs76737755 AHSA1 Synonymous SNV V97V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.631 300450 chr14 77950896 77950896 G C rs11850175 ISM2 Nonsynonymous SNV P133A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 11.88 300451 chr3 184059577 184059577 C T rs376762321 FAM131A Synonymous SNV I14I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.47 300452 chr14 78397930 78397930 C T rs144926474 ADCK1 Nonsynonymous SNV R321C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 35 300453 chr7 6628476 6628476 C T rs752031161 ZDHHC4 Nonsynonymous SNV R324W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 300454 chr2 71741014 71741014 C T rs754343148 DYSF Nonsynonymous SNV S210F 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 21.2 300455 chr4 42403100 42403100 G C rs970715307 SHISA3 Nonsynonymous SNV A117P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 300456 chr2 54482733 54482733 C T rs202006037 TSPYL6 Nonsynonymous SNV E186K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.572 300457 chr16 10851756 10851756 G A rs148599400 NUBP1 Nonsynonymous SNV V149M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 300458 chr14 91639704 91639704 G A DGLUCY Synonymous SNV K176K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.621 300459 chr4 162307128 162307128 G T FSTL5 Nonsynonymous SNV S762Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 300460 chr7 82545139 82545139 T G PCLO Nonsynonymous SNV I4055L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.37 300461 chr7 82545602 82545602 G T rs116819202 PCLO Synonymous SNV P3900P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.313 300462 chr7 82764021 82764021 C A rs554897786 PCLO Nonsynonymous SNV A949S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 300463 chr2 63631355 63631355 T G rs189817127 WDPCP Nonsynonymous SNV L262F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.6 300464 chr7 82784872 82784872 G A rs748013490 PCLO Nonsynonymous SNV P362L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.993 300465 chr7 82784937 82784937 C A PCLO Nonsynonymous SNV K340N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.316 300466 chr16 1486010 1486010 G C rs919127100 CCDC154 Nonsynonymous SNV P522R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 300467 chr4 6107341 6107341 C G JAKMIP1 Synonymous SNV A161A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 300468 chr7 92300769 92300769 G A CDK6 Synonymous SNV G206G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.726 300469 chr16 1888033 1888033 T C rs751059643 FAHD1 Nonsynonymous SNV L218P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 300470 chr2 74479379 74479379 C T rs142491962 SLC4A5 Nonsynonymous SNV G469R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 300471 chr2 74588701 74588701 A G DCTN1 Synonymous SNV A1115A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.216 300472 chr16 19078792 19078792 G A rs1019144209 LOC102723385 0 0 0.003 0 0 0 0 1 0 0 0 0 6.618 300473 chr4 70823496 70823496 G A rs910278020 CSN2 Synonymous SNV P56P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.961 300474 chr8 101276917 101276917 C G RNF19A Nonsynonymous SNV V430L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 300475 chr16 21011592 21011592 C A DNAH3 Nonsynonymous SNV K2079N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 300476 chr8 103840850 103840852 AAG - rs766817320 AZIN1 F430del 0 0 0.003 0 0 0 0 1 0 0 0 0 300477 chr2 85893775 85893775 A G rs138729391 SFTPB Nonsynonymous SNV F120L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 300478 chr3 167277933 167277933 G A rs770103817 WDR49 Synonymous SNV H190H 0.003 0 0 0 3 0 0 0 0 0 0 0 9.467 300479 chr2 86271364 86271364 G A rs768165027 POLR1A Synonymous SNV D1011D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.057 300480 chr8 110424513 110424513 A C rs147942629 PKHD1L1 Nonsynonymous SNV Q702P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 300481 chr16 24788376 24788402 CAGCAGCAGCAGCAACAGCAGCAGCCG - rs753987784 TNRC6A Q100_Q108del 0 0 0.003 0 0 0 0 1 0 0 0 0 300482 chr4 189020260 189020260 C T rs114695684 TRIML2 Nonsynonymous SNV V184I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.03 300483 chr4 79447707 79447707 A T rs912012844 FRAS1 Synonymous SNV S3607S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.26 300484 chr16 3063872 3063872 C T CLDN9 Nonsynonymous SNV A170V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 300485 chr16 30779650 30779650 C T rs138041260 RNF40 Nonsynonymous SNV T493I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 300486 chr3 100543731 100543731 G A rs200713686 ABI3BP Nonsynonymous SNV P772L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 300487 chr15 34640193 34640193 A G rs749721245 NUTM1 Nonsynonymous SNV M32V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 300488 chr4 38104770 38104770 T C rs748817145 TBC1D1 Nonsynonymous SNV I850T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 300489 chr4 38698790 38698790 C G rs757967760 KLF3 Nonsynonymous SNV T315S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 300490 chr4 89015728 89015728 C T rs199897813 ABCG2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 300491 chr4 38928707 38928707 C A rs868504508 FAM114A1 Stop gain Y435X 0.001 0 0 0 1 0 0 0 0 0 0 0 4.15 300492 chr4 39109349 39109349 A G KLHL5 Synonymous SNV G547G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 300493 chr3 124149599 124149599 G A KALRN Nonsynonymous SNV E934K 0 0 0 1 0 0 0.003 0 0 0 0 0 35 300494 chr16 4777084 4777084 G T rs200665326 ANKS3 Nonsynonymous SNV L89I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 300495 chr3 113212063 113212063 A G rs755249468 SPICE1 Nonsynonymous SNV I161T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.137 300496 chr4 47593195 47593195 A T rs771490282 ATP10D Nonsynonymous SNV T1360S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 300497 chr4 3221998 3221998 A T rs201702168 HTT Nonsynonymous SNV E2444D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.88 300498 chr3 130292972 130292972 G A rs557884581 COL6A6 Synonymous SNV P1050P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.508 300499 chr5 126859252 126859252 G A PRRC1 Nonsynonymous SNV M27I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.312 300500 chr16 58060383 58060383 C T MMP15 Synonymous SNV G43G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.36 300501 chr8 144999352 144999352 C T rs781876093 PLEC Nonsynonymous SNV R1568H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.17 300502 chr4 57467152 57467152 C G THEGL Nonsynonymous SNV A387G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 300503 chr16 66426269 66426269 G A rs376087780 CDH5 Synonymous SNV A400A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 300504 chr5 134053785 134053785 C T rs374218346 SEC24A Synonymous SNV T964T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 300505 chr3 53804021 53804021 C T rs72556360 CACNA1D Nonsynonymous SNV P1298S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign/Likely benign 13.12 300506 chr8 1626645 1626645 G A rs781504764 DLGAP2 Nonsynonymous SNV A852T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.174 300507 chr3 43621886 43621886 T G ANO10 Nonsynonymous SNV D73A 0.003 0 0 0 3 0 0 0 0 0 0 0 11.1 300508 chr15 65489662 65489662 G A rs559616243 CILP Stop gain R988X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 300509 chr16 78466442 78466442 A G rs759599384 WWOX Synonymous SNV T170T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 300510 chr16 81015448 81015448 T G CMC2 Nonsynonymous SNV D73A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 300511 chr4 80327800 80327800 G A rs776215042 GK2 Nonsynonymous SNV P519S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 300512 chr4 81122500 81122500 C G rs373706543 PRDM8 Synonymous SNV V92V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.694 300513 chr8 25317952 25317952 T G CDCA2 Nonsynonymous SNV H23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.672 300514 chr15 72699006 72699006 G A TMEM202 Nonsynonymous SNV G134D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 300515 chr4 8582835 8582835 C T rs112196708 GPR78 Synonymous SNV G42G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 300516 chr4 8869682 8869682 G A rs142969759 HMX1 Synonymous SNV L262L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 300517 chr4 99807684 99807684 G A rs886684806 EIF4E Nonsynonymous SNV A138V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.7 300518 chr5 101834355 101834355 C T SLCO6A1 Nonsynonymous SNV R65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.135 300519 chr3 185003303 185003304 AG - rs149626195 MAP3K13 0 0 0 1 0 0 0.003 0 0 0 0 0 300520 chr3 186281969 186281969 C T rs150269998 TBCCD1 Synonymous SNV P50P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.02 300521 chr4 88583604 88583604 G A rs373051924 DMP1 Nonsynonymous SNV S209N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.7 300522 chr3 178560462 178560462 G A KCNMB2 Nonsynonymous SNV G149R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 300523 chr16 90109970 90109970 G A rs1024950763 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 1.76 300524 chr3 70014295 70014295 G A rs756044021 MITF Nonsynonymous SNV V386I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.021 300525 chr8 8998853 8998853 C T rs530995145 PPP1R3B Synonymous SNV T103T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 300526 chr8 95538807 95538807 T C rs770636612 VIRMA Synonymous SNV Q555Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 300527 chr5 130831346 130831346 C T rs778008935 RAPGEF6 Nonsynonymous SNV R476Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 300528 chr9 113189893 113189893 C T rs373901354 SVEP1 Nonsynonymous SNV V1985I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 300529 chr17 19246872 19246872 T C rs767709175 B9D1 Synonymous SNV P254P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.736 300530 chr5 132197777 132197777 C - GDF9 G290Vfs*39 0 0 0 1 0 0 0.003 0 0 0 0 0 300531 chr5 140202499 140202499 C T rs149975240 PCDHA5 Nonsynonymous SNV A380V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.579 300532 chr5 140236292 140236292 A C rs554030052 PCDHA10 Nonsynonymous SNV E220A 0.003 0 0 0 3 0 0 0 1 0 0 0 9.1 300533 chr3 25642709 25642709 C T rs557860223 TOP2B Synonymous SNV P1494P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.31 300534 chr5 140263926 140263926 G A rs148479176 PCDHA13 Synonymous SNV A691A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.342 300535 chr3 42577722 42577722 C - VIPR1 P232Qfs*81 0 0 0 1 0 0 0.003 0 0 0 0 0 300536 chr16 1263814 1263814 G A rs377611664 CACNA1H Synonymous SNV S1598S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.813 300537 chr5 140764393 140764393 G A PCDHGA7 Nonsynonymous SNV V643M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 300538 chr3 37340424 37340424 - A GOLGA4 Frameshift insertion E307Gfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 300539 chr16 1664886 1664886 C T rs769727202 CRAMP1 Synonymous SNV F82F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 300540 chr5 145826935 145826935 G C TCERG1 Nonsynonymous SNV G8A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 300541 chr17 30469672 30469672 C T LOC105371730 0 0 0.007 0 0 0 0 2 0 0 0 0 16.79 300542 chr5 147499601 147499601 G C SPINK5 Nonsynonymous SNV M781I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 300543 chr4 3189599 3189599 A G rs377275039 HTT Synonymous SNV E1737E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.44 300544 chr17 35975069 35975069 C T rs759927747 MIR378J 0 0 0.003 0 0 0 0 1 0 0 0 0 7.117 300545 chr17 3627040 3627040 T C rs756866537 ITGAE 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 300546 chr5 150901175 150901175 T G rs767950612 FAT2 Nonsynonymous SNV D3660A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 300547 chr9 130890987 130890987 A G rs533640076 PTGES2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 300548 chr17 37566278 37566278 C G rs757348375 MED1 Synonymous SNV T732T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.427 300549 chr3 50645410 50645410 G A rs138469436 CISH Synonymous SNV D135D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.47 300550 chr9 131568278 131568278 C T rs376578779 TBC1D13 Synonymous SNV L228L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.06 300551 chr17 38100404 38100404 G A rs969218123 LRRC3C Nonsynonymous SNV R82H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 300552 chr16 15690691 15690691 G A rs764204031 MARF1 Synonymous SNV V1696V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.85 300553 chr4 47808983 47808983 G T rs763386848 CORIN Nonsynonymous SNV L49M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 300554 chr3 49947938 49947938 T C rs146509374 MON1A Synonymous SNV A266A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.62 300555 chr5 170640676 170640676 G A rs149025321 RANBP17 Nonsynonymous SNV R758Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 300556 chr9 136523539 136523539 C T rs550120044 DBH Synonymous SNV T608T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.27 300557 chr5 172660374 172660374 C T rs200039950 NKX2-5 Nonsynonymous SNV R143Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.072 300558 chr5 173531269 173531269 G T rs754250787 NSG2 Synonymous SNV A84A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.38 300559 chr16 21145776 21145776 C G rs754816959 DNAH3 0.001 0 0 0 1 0 0 0 0 0 0 0 25 300560 chr9 137742043 137742043 G T rs113626871 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 0.725 300561 chr9 137742061 137742061 C G rs200901617 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 300562 chr9 137742064 137742064 T C rs747271157 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 300563 chr9 137742066 137742066 A G rs770899796 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 300564 chr16 21698950 21698950 G A rs377502630 OTOA Nonsynonymous SNV E127K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 300565 chr5 175843281 175843281 C A rs754778571 CLTB Synonymous SNV L28L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.43 300566 chr16 21712250 21712250 G A rs780664514 OTOA Synonymous SNV L215L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.885 300567 chr9 139301791 139301791 T C ENTR1 Nonsynonymous SNV S136G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 300568 chr3 52817342 52817342 C T rs142023731 ITIH1 Synonymous SNV G116G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 300569 chr5 177548149 177548149 T C rs775371024 N4BP3 Synonymous SNV Y301Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 300570 chr17 4088145 4088145 G A ANKFY1 Nonsynonymous SNV P598L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 300571 chr17 41246483 41246483 C T rs41286292 BRCA1 Synonymous SNV K308K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.231 300572 chr6 107391417 107391417 G A rs367885908 BEND3 Synonymous SNV A326A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.247 300573 chr4 186380239 186380239 C T rs745853340 CCDC110 Nonsynonymous SNV S464N 0.003 0 0 0 4 0 0 0 0 0 0 0 0.012 300574 chr9 140115356 140115356 C T rs372342634 RNF208 Synonymous SNV S103S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.248 300575 chr16 30369350 30369350 A G rs139530748 TBC1D10B Nonsynonymous SNV L781P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 300576 chr17 42253971 42253971 T C rs1041678511 ASB16-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.79 300577 chr17 42426857 42426857 T C rs745376236 GRN Nonsynonymous SNV S68P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 300578 chr9 140477526 140477526 T C ZMYND19 Nonsynonymous SNV Y150C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 300579 chr4 103533641 103533641 C T NFKB1 Synonymous SNV L823L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 300580 chr6 114181164 114181164 C T MARCKS Synonymous SNV P136P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 300581 chr16 31476043 31476043 C T rs764638829 ARMC5 Synonymous SNV L567L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.878 300582 chr17 45376744 45376744 C T rs200790464 ITGB3 Synonymous SNV T587T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.459 300583 chr17 4575746 4575746 G A rs372079687 PELP1 Nonsynonymous SNV P847L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 300584 chr4 106359159 106359159 G A rs752062224 PPA2 Nonsynonymous SNV T159M 0 0 0 1 0 0 0.003 0 0 0 0 0 32 300585 chr17 48051291 48051291 C T rs202154782 DLX4 Nonsynonymous SNV S164L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 300586 chr16 57155037 57155037 C T rs201790090 CPNE2 Synonymous SNV G238G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 300587 chr6 130152529 130152529 T G rs140701252 TMEM244 Nonsynonymous SNV M108L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 300588 chr17 4859296 4859296 - CGGG rs751624358 ENO3 Frameshift insertion V268Gfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 300589 chr17 48776827 48776827 C T rs763302247 ANKRD40 Synonymous SNV T237T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 300590 chr5 52856556 52856556 G A NDUFS4 Nonsynonymous SNV V22I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 300591 chr5 5318344 5318344 C T rs762838325 ADAMTS16 Nonsynonymous SNV S1170L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.167 300592 chr17 55055592 55055592 C G rs146102857 SCPEP1 Nonsynonymous SNV N24K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.447 300593 chr9 6251166 6251166 C T IL33 Nonsynonymous SNV L41F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 300594 chr17 56350258 56350258 C T rs144371238 MPO Nonsynonymous SNV R548Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 300595 chr4 985092 985092 C T rs201921976 SLC26A1 Nonsynonymous SNV G134R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 300596 chr17 56557302 56557302 T C rs754177185 HSF5 Nonsynonymous SNV S293G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 300597 chr4 994465 994465 G A rs200237798 IDUA Nonsynonymous SNV R122K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.074 300598 chr4 144616701 144616701 G C rs922928319 FREM3 Nonsynonymous SNV H1710D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.2 300599 chr9 75309630 75309630 C T rs140482278 TMC1 Nonsynonymous SNV A79V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 300600 chr4 125592428 125592428 A G ANKRD50 Synonymous SNV A489A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 300601 chr17 59878621 59878621 C T BRIP1 Nonsynonymous SNV R378K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 300602 chr4 130027763 130027763 A G rs138803726 C4orf33 Nonsynonymous SNV N68S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.93 300603 chr17 62075696 62075696 C T PRR29-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 300604 chr6 155635553 155635553 A C rs764885356 TFB1M Nonsynonymous SNV S4A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 300605 chr6 155732472 155732472 C G NOX3 Nonsynonymous SNV R444P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 300606 chr9 91660692 91660692 G A SHC3 Synonymous SNV G390G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.592 300607 chr4 140640819 140640819 G A MAML3 Synonymous SNV A1025A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.435 300608 chr16 81066236 81066236 G A rs775296886 CENPN Synonymous SNV Q333Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 300609 chr9 96030965 96030965 C T rs201521936 WNK2 Nonsynonymous SNV P1324S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.267 300610 chr9 96439235 96439235 C T rs201060871 PHF2 Synonymous SNV T1064T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 300611 chr4 151023872 151023872 C T DCLK2 Nonsynonymous SNV H222Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 300612 chr9 98011537 98011537 G A rs121917784 FANCC Stop gain Q13X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 36 300613 chr4 154519879 154519879 G A rs142713810 TMEM131L Nonsynonymous SNV R754H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 300614 chr6 161016452 161016452 C T LPA Nonsynonymous SNV E1135K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 300615 chr5 78533418 78533418 T C rs374070026 JMY Synonymous SNV D315D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 300616 chr5 76373102 76373102 C G ZBED3 Nonsynonymous SNV R201P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.63 300617 chr4 1746499 1746499 G A rs753954692 TACC3 Synonymous SNV Q797Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.052 300618 chr16 85667616 85667616 A G rs148537143 GSE1 Nonsynonymous SNV N35S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 300619 chr16 85695114 85695114 - GCCCGG rs771417335 GSE1 P569_F570insGP 0.001 0 0 0 1 0 0 0 0 0 0 0 300620 chr5 81354386 81354386 G A rs149472606 ATG10 Nonsynonymous SNV A61T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.033 300621 chr17 72769771 72769771 G A rs201882790 NAT9 Nonsynonymous SNV P14L 0 0 0.003 0 0 0 0 1 0 0 0 0 29 300622 chr6 168442811 168442811 C T KIF25 Nonsynonymous SNV S270L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 300623 chr4 169824950 169824950 G A PALLD Nonsynonymous SNV D115N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 300624 chrX 135631048 135631048 T A rs752915870 VGLL1 Nonsynonymous SNV L172H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 300625 chr5 89977184 89977184 C T rs770330094 ADGRV1 Synonymous SNV H1859H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 300626 chrX 13635996 13635996 C G rs145702858 EGFL6 Nonsynonymous SNV P309R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 300627 chr6 170104150 170104150 G A rs138612904 PHF10 Synonymous SNV P482P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.646 300628 chr6 170155444 170155444 C T rs137971039 ERMARD Nonsynonymous SNV H81Y 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.69 300629 chr5 93076615 93076615 G A POU5F2 Stop gain R219X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 300630 chr17 73924269 73924269 C T FBF1 Synonymous SNV L95L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 300631 chr4 185652088 185652088 G A rs770566473 CENPU Nonsynonymous SNV H28Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.131 300632 chrX 154185319 154185319 G A rs199902295 F8 Synonymous SNV F555F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 300633 chr4 187003878 187003878 T A rs757686834 TLR3 Synonymous SNV I346I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.109 300634 chrX 3002638 3002638 C T rs150895660 ARSF Nonsynonymous SNV T254M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.88 300635 chr4 187540603 187540603 G A rs200950081 FAT1 Synonymous SNV D2379D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.362 300636 chr6 109471397 109471397 G T rs565910794 CEP57L1 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 300637 chr6 109471399 109471399 T G rs749123761 CEP57L1 Nonsynonymous SNV V2G 0 0 0 1 0 0 0.003 0 0 0 0 0 28 300638 chrX 53222314 53222314 G C rs782119238 KDM5C Synonymous SNV G1505G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 300639 chrX 66766357 66766392 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC - AR G462_G473del 0 0 0.003 0 0 0 0 1 0 0 0 0 300640 chr6 119399387 119399387 G A rs368464411 FAM184A Synonymous SNV T26T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 300641 chr17 4008018 4008018 G A rs369754145 ZZEF1 Synonymous SNV C494C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.134 300642 chr17 4145625 4145627 CTT - rs747713902 ANKFY1 K85del 0.001 0 0 0 1 0 0 0 0 0 0 0 300643 chrX 73041328 73041328 T C TSIX, XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 3.435 300644 chrX 85403800 85403800 G A rs143533771 DACH2 Nonsynonymous SNV G59D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 300645 chr17 79663504 79663504 G A rs530663404 HGS Nonsynonymous SNV R504H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 300646 chr17 8044551 8044551 G A rs115419450 PER1 Synonymous SNV G1236G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 300647 chr10 104136187 104136187 G A rs145206051 GBF1 Nonsynonymous SNV V1349M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 300648 chr17 6903745 6903745 C A rs778734947 ALOX12 Nonsynonymous SNV L300I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 300649 chr17 9808132 9808132 C T rs141341165 RCVRN Synonymous SNV V122V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 300650 chr18 10487900 10487900 G A rs142674398 APCDD1 Synonymous SNV S470S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 300651 chr18 12720601 12720601 G A rs753428683 PSMG2 Nonsynonymous SNV R167Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 300652 chr10 115963152 115963152 G A rs758693322 TDRD1 Synonymous SNV T269T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.98 300653 chr18 24128015 24128015 G A rs78306061 KCTD1 Synonymous SNV R162R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 300654 chr18 25570090 25570090 G A rs201428495 CDH2 Synonymous SNV D492D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.516 300655 chr10 118434636 118434636 G A rs187495430 HSPA12A Nonsynonymous SNV R562W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 300656 chr18 28923899 28923899 C T rs769441726 DSG1 Nonsynonymous SNV T611I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.863 300657 chr10 120934086 120934086 G T rs981075930 PRDX3 Nonsynonymous SNV P63H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 300658 chr10 121436654 121436654 G A rs144678100 BAG3 Nonsynonymous SNV V530M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.08 300659 chr10 124647891 124647891 C T rs2950354 LOC399815 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 300660 chr17 10298516 10298516 C G MYH8 Synonymous SNV L1632L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 300661 chr6 159653024 159653024 C T FNDC1 Nonsynonymous SNV P494S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.218 300662 chr4 77177570 77177570 C T FAM47E, FAM47E-STBD1 Nonsynonymous SNV S105L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.12 300663 chr10 126395213 126395213 G A rs200550066 FAM53B Nonsynonymous SNV R24C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.81 300664 chr17 10549097 10549097 G A rs779864155 MYH3 Synonymous SNV A356A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 300665 chr17 17067439 17067439 C T MPRIP Nonsynonymous SNV S877F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 300666 chr6 170088998 170088998 T A rs778024073 WDR27 Nonsynonymous SNV Q35L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 22.7 300667 chr4 8407722 8407722 C T rs779585315 ACOX3 Nonsynonymous SNV D246N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 300668 chr6 18465249 18465249 G T RNF144B Nonsynonymous SNV C288F 0 0 0 1 0 0 0.003 0 0 0 0 0 33 300669 chr4 87728839 87728839 G A rs201319004 PTPN13 Nonsynonymous SNV G2100E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 300670 chr6 27420630 27420630 A G ZNF184 Synonymous SNV A236A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 300671 chr18 66564602 66564602 A G rs764357141 CCDC102B Synonymous SNV L400L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.845 300672 chr4 983295 983295 C T rs558027930 SLC26A1 Nonsynonymous SNV A478T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 300673 chr5 53813941 53813941 C T rs759902971 SNX18 Synonymous SNV A53A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.425 300674 chr6 34386158 34386158 G A rs149897629 RPS10, RPS10-NUDT3 Synonymous SNV T148T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 300675 chr7 100550212 100550212 T C rs76954633 MUC3A Nonsynonymous SNV S265P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.131 300676 chr7 100550217 100550217 A C rs77045782 MUC3A Synonymous SNV T266T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 300677 chr7 100550240 100550240 - TAT MUC3A T274_T275insM 0.001 0 0 0 1 0 0 0 0 0 0 0 300678 chr7 100550243 100550245 CCG - MUC3A A276del 0.001 0 0 0 1 0 0 0 0 0 0 0 300679 chr18 71814913 71814913 A G FBXO15 Synonymous SNV F36F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.764 300680 chr7 100550251 100550251 C T rs74436561 MUC3A Stop gain Q278X 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 300681 chr17 26905703 26905703 C T SPAG5 Nonsynonymous SNV S1062N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 300682 chr17 27225710 27225710 G A DHRS13 Stop gain R295X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 300683 chr5 111576477 111576477 G A rs199935120 EPB41L4A Nonsynonymous SNV R276W 0 0 0 1 0 0 0.003 0 0 0 0 0 33 300684 chr5 112676283 112676283 T C rs766109789 MCC Nonsynonymous SNV K187R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.615 300685 chr5 112899718 112899718 C A YTHDC2 Nonsynonymous SNV P569T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 300686 chr17 35969385 35969385 C T rs755605026 SYNRG Nonsynonymous SNV A7T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.375 300687 chr19 10568726 10568726 C G rs200316343 PDE4A Nonsynonymous SNV S111C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 300688 chr6 42227344 42227344 A T rs147004250 TRERF1 Nonsynonymous SNV S688T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 300689 chr5 74981167 74981167 G A rs35898774 POC5 Synonymous SNV V399V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.352 300690 chr17 37317552 37317552 C T rs767380922 ARL5C Nonsynonymous SNV R103Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 300691 chr19 11322711 11322711 A G DOCK6 Synonymous SNV A1536A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.585 300692 chr6 43188559 43188559 C T rs554241306 CUL9 Synonymous SNV C2166C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 300693 chr5 134011728 134011728 G A rs548510950 SEC24A Synonymous SNV T389T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 300694 chr17 38977324 38977324 C T rs532545866 KRT10 Nonsynonymous SNV D225N 0.001 0 0 0 1 0 0 0 0 0 0 0 35 300695 chr17 39119986 39119986 C T rs151288240 KRT39 Nonsynonymous SNV G201S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.258 300696 chr6 43005488 43005488 G A rs745394794 CUL7 Nonsynonymous SNV R1763C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 300697 chr19 1483655 1483655 C A PCSK4 Nonsynonymous SNV R462L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 300698 chr10 70951470 70951470 A G SUPV3L1 Synonymous SNV K136K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 300699 chr10 71391541 71391541 C T rs769897866 FAM241B Synonymous SNV D14D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 300700 chr6 52762706 52762706 G C GSTA3 Nonsynonymous SNV R105G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 300701 chr7 122789529 122789529 G A rs1028948154 SLC13A1 Nonsynonymous SNV S30L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.41 300702 chr10 78647237 78647237 G A rs370888223 KCNMA1 Synonymous SNV L1058L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 300703 chr5 14462959 14462959 C G rs150213367 TRIO Synonymous SNV A1864A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 300704 chr17 45377914 45377914 C T rs151219882 ITGB3 Nonsynonymous SNV R662C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 300705 chr6 7584946 7584946 A G DSP Nonsynonymous SNV K1885R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.635 300706 chr10 94714391 94714391 A G rs569674088 EXOC6 Nonsynonymous SNV T408A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 300707 chr10 96121609 96121609 G A rs17854590 NOC3L Synonymous SNV I10I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.035 300708 chr6 72967847 72967847 T C RIMS1 Synonymous SNV A403A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.534 300709 chr5 149515341 149515341 G A rs754041602 PDGFRB Synonymous SNV S47S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.85 300710 chr19 2251216 2251216 C T AMH Synonymous SNV L315L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.34 300711 chr19 22706412 22706412 C T rs567167344 LOC101929124 0 0 0.003 0 0 0 0 1 0 0 0 0 6.913 300712 chr19 2276342 2276342 C T PEAK3 Synonymous SNV L253L 0 0 0.007 0 0 0 0 2 0 0 0 0 2.852 300713 chr5 156757853 156757853 G A rs980392146 CYFIP2 Nonsynonymous SNV V728I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 300714 chr5 154202040 154202040 C T rs561703303 FAXDC2 Nonsynonymous SNV E224K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 300715 chr5 154202042 154202042 A T FAXDC2 Nonsynonymous SNV I223K 0.001 0 0 0 1 0 0 0 0 0 0 0 24 300716 chr5 16616994 16616994 C A RETREG1 Synonymous SNV P29P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.69 300717 chr17 59482726 59482726 C T TBX2 Synonymous SNV G405G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 300718 chr5 167882380 167882380 C T WWC1 Nonsynonymous SNV T893M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 300719 chr17 60042661 60042661 G T rs1004537392 MED13 Nonsynonymous SNV T1517N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 300720 chr5 170668144 170668144 C G rs748440499 RANBP17 Nonsynonymous SNV L879V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 300721 chr17 61473177 61473177 A G rs754420162 TANC2 Nonsynonymous SNV K968R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 300722 chr17 61829731 61829731 G A CCDC47 Synonymous SNV N384N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 300723 chr5 174869335 174869335 C T rs752562538 DRD1 Synonymous SNV P256P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.836 300724 chr19 3612053 3612053 G C rs367649148 CACTIN Synonymous SNV P715P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.694 300725 chr19 36236102 36236102 G C rs769130329 U2AF1L4 Nonsynonymous SNV S19C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 300726 chr19 36237324 36237324 G A PSENEN Synonymous SNV G22G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 300727 chr11 103041020 103041020 G T rs431905499 DYNC2H1 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 25.2 300728 chr5 176825247 176825247 G A rs373459733 SLC34A1 Nonsynonymous SNV R627H 0 0 0 1 0 0 0.003 0 0 0 0 0 19.26 300729 chr17 67030010 67030010 A G rs765589509 ABCA9 Nonsynonymous SNV I378T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.14 300730 chr19 37005344 37005344 T C rs779009925 ZNF260 Nonsynonymous SNV H266R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 300731 chr19 3770941 3770941 C T rs398124430 RAX2 Nonsynonymous SNV R124H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 300732 chr19 3779176 3779176 G A rs772454720 MATK Synonymous SNV A296A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 300733 chr19 37879215 37879215 G C rs764389389 ZNF527 Nonsynonymous SNV E88D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 300734 chr5 179263439 179263439 C T SQSTM1 Nonsynonymous SNV A390V 0 0 0 1 0 0 0.003 0 0 0 0 0 32 300735 chr17 72539040 72539040 C T rs61730133 CD300C Nonsynonymous SNV V163M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 300736 chr19 40719909 40719909 - GC MAP3K10 Frameshift insertion S775Cfs*48 0 0 0.003 0 0 0 0 1 0 0 0 0 300737 chr7 29105640 29105640 G A rs376043843 CPVL Nonsynonymous SNV T321M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 300738 chr5 3600751 3600751 G A rs768527966 IRX1 Synonymous SNV S447S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 300739 chr5 36251513 36251513 T C RANBP3L Nonsynonymous SNV N395S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.486 300740 chr17 74001419 74001419 A G rs759849744 CDK3 Nonsynonymous SNV K278R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 300741 chr5 40945346 40945346 G A rs769984570 C7 Stop gain W205X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 300742 chr5 40950098 40950098 G A rs371469026 C7 Nonsynonymous SNV A359T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.757 300743 chr19 42730119 42730119 C G ZNF526 Nonsynonymous SNV H522D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 300744 chr11 121028927 121028927 G C rs149232569 TECTA Synonymous SNV T1561T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.611 300745 chr7 116960784 116960784 G T WNT2 Nonsynonymous SNV S49R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 300746 chr7 120373041 120373041 A G rs759052844 KCND2 Synonymous SNV L400L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.48 300747 chr7 12414828 12414828 C T rs764665015 VWDE Synonymous SNV L350L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.981 300748 chr5 41150122 41150122 G A rs374161182 C6 Synonymous SNV L766L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.769 300749 chr5 54558700 54558700 A G rs370110659 DHX29 Nonsynonymous SNV S1145P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.7 300750 chr7 128484994 128484994 C T rs760500171 FLNC Nonsynonymous SNV R1159W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 31 300751 chr5 56177913 56177913 C G rs201198197 MAP3K1 Synonymous SNV P962P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.02 300752 chr7 131844353 131844353 G A rs377038963 PLXNA4 Synonymous SNV P1513P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 300753 chr7 133948723 133948723 G T LRGUK Nonsynonymous SNV R825M 0 0 0 1 0 0 0.003 0 0 0 0 0 23 300754 chr11 126301417 126301417 A G KIRREL3 Synonymous SNV S519S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.303 300755 chr7 4800831 4800831 C T rs772982227 FOXK1 Synonymous SNV T611T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.277 300756 chr7 134819670 134819670 T A AGBL3 Nonsynonymous SNV N103K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 6.527 300757 chr7 137567314 137567314 G A rs145388881 CREB3L2 Nonsynonymous SNV P381L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.774 300758 chr17 79234049 79234049 G A rs140006785 SLC38A10 Nonsynonymous SNV A426V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.093 300759 chr5 6750504 6750504 G A TENT4A Nonsynonymous SNV R583Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 300760 chr19 46973444 46973444 C T rs118027398 PNMA8A Synonymous SNV A283A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.672 300761 chr11 134234266 134234266 C T GLB1L2 Synonymous SNV L260L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 300762 chr19 47769969 47769969 C G CCDC9 Nonsynonymous SNV I274M 0 0 0.003 0 0 0 0 1 0 0 0 0 25 300763 chr6 151152607 151152607 A G rs17080381 PLEKHG1 Nonsynonymous SNV Q748R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 25.5 300764 chr7 5254173 5254173 G A rs4449703 WIPI2 Synonymous SNV T14T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 300765 chr5 74877136 74877136 C G POLK Nonsynonymous SNV P200R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 300766 chr19 48965652 48965652 G A KCNJ14 Nonsynonymous SNV R224H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 300767 chr7 149489560 149489560 G T rs761314650 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 7.83 300768 chr7 149506562 149506562 A T SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 3.37 300769 chr5 82837830 82837830 C T rs756880346 VCAN Nonsynonymous SNV T2016M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 300770 chr7 150105318 150105318 C T rs549846333 LOC728743 0.001 0 0 0 1 0 0 0 0 0 0 0 6.724 300771 chr7 150164245 150164245 T A rs149007858 GIMAP8 Synonymous SNV P153P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.49 300772 chr19 50865004 50865004 G A NAPSA Synonymous SNV S128S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.357 300773 chr5 90281266 90281266 C T rs994347057 ADGRV1 Nonsynonymous SNV L6027F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 300774 chr19 50957409 50957409 G A rs747936523 MYBPC2 Nonsynonymous SNV V628M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.888 300775 chr19 51298378 51298378 G C ACP4 Nonsynonymous SNV R415T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 300776 chr7 91603030 91603030 C A rs770850802 AKAP9 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.12 300777 chr19 52003290 52003290 C T SIGLEC12 Nonsynonymous SNV C113Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 300778 chr18 44057851 44057851 C T rs766184517 LOXHD1 Nonsynonymous SNV E375K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 300779 chr11 46727100 46727100 C T ZNF408 Nonsynonymous SNV T609I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 300780 chr11 47441928 47441928 C T rs151081942 PSMC3 Synonymous SNV L338L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 300781 chr11 47806608 47806608 C T rs780453055 NUP160 Nonsynonymous SNV D1286N 0 0 0.003 0 0 0 0 1 0 0 0 0 27 300782 chr19 53432515 53432515 A T rs183030552 ZNF816-ZNF321P Nonsynonymous SNV F115I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.716 300783 chr8 10285763 10285763 A C rs202057562 MSRA Nonsynonymous SNV N177H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 300784 chr7 27134078 27134078 G A rs770180375 HOXA1 Nonsynonymous SNV T330I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 300785 chr8 104417002 104417002 A C SLC25A32 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 300786 chr6 124125370 124125370 A G NKAIN2 Nonsynonymous SNV T9A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.08 300787 chr6 125404064 125404064 G A rs200091142 RNF217 Nonsynonymous SNV R537Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.71 300788 chr7 30008637 30008637 C T rs748086815 SCRN1 Nonsynonymous SNV R16H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 300789 chr8 104933910 104933910 C T rs138369781 RIMS2 Synonymous SNV S553S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.93 300790 chr8 123963822 123963822 C T rs781113410 ZHX2 Synonymous SNV P24P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 300791 chr18 77624215 77624215 C G rs757502143 KCNG2 Nonsynonymous SNV S183C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.9 300792 chr6 38831755 38831755 A G rs148402362 DNAH8 Synonymous SNV R1922R 0.003 0 0 0 3 0 0 0 0 0 0 0 0.151 300793 chr19 498678 498678 G A rs745716714 MADCAM1 Nonsynonymous SNV E174K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 300794 chr19 5593993 5593993 G T rs756692498 SAFB2 Nonsynonymous SNV H706N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.132 300795 chr8 133935699 133935699 C T rs773795717 TG Nonsynonymous SNV R1549W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 300796 chr8 134262721 134262721 G T rs143549909 NDRG1 Nonsynonymous SNV N154K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 300797 chr19 56382252 56382252 G A rs149497234 NLRP4 Nonsynonymous SNV R805H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.757 300798 chr19 1010782 1010782 G A rs564800791 TMEM259 Nonsynonymous SNV A477V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 300799 chr19 56693562 56693562 G T rs36004192 GALP Nonsynonymous SNV V37L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.96 300800 chr19 57036986 57036986 G A rs143533715 ZNF471 Nonsynonymous SNV C443Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 300801 chr11 56000259 56000259 C G rs146164137 OR5T2 Nonsynonymous SNV G135R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 300802 chr19 1466930 1466930 G A APC2 Synonymous SNV R1209R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.026 300803 chr19 57722868 57722868 A C rs779577695 ZNF264 Nonsynonymous SNV M135L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 300804 chr11 56114281 56114281 T C rs143380502 OR8K1 Nonsynonymous SNV M256T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 300805 chr19 578029 578029 G C BSG Nonsynonymous SNV C108S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 300806 chr19 1827009 1827009 C G REXO1 Synonymous SNV A593A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.39 300807 chr7 6210852 6210852 G A rs879155222 CYTH3 Synonymous SNV P14P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 300808 chr19 3491695 3491695 T C DOHH Nonsynonymous SNV N235S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.129 300809 chr19 5997101 5997101 G A rs201839547 RFX2 Synonymous SNV T636T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 300810 chr19 4326987 4326987 T C rs766982441 STAP2 Nonsynonymous SNV K261E 0.001 0 0 0 1 0 0 0 0 0 0 0 19 300811 chr19 4354415 4354415 C G rs771183123 MPND Nonsynonymous SNV L282V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.7 300812 chr8 144999370 144999370 G A rs782322130 PLEC Nonsynonymous SNV A1562V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.015 300813 chr7 102948086 102948086 C T rs753165205 PMPCB Synonymous SNV F260F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.66 300814 chr19 5144315 5144315 C T rs141629225 KDM4B Synonymous SNV N931N 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 15.17 300815 chr8 145616471 145616471 G A rs782488184 ADCK5 Synonymous SNV V227V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.944 300816 chr11 58170559 58170559 C T rs199731970 OR5B3 Synonymous SNV V108V 0 0 0.007 0 0 0 0 2 0 0 0 0 7.774 300817 chr8 145677824 145677824 C T rs1542569 CYHR1 Synonymous SNV G247G 0.003 0 0 0 4 0 0 0 1 0 0 0 11.36 300818 chr6 25862139 25862139 C T rs144108103 SLC17A3 Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 300819 chr19 6754639 6754639 T G rs755879134 SH2D3A Nonsynonymous SNV E362A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 300820 chr6 28227929 28227929 G A rs776303341 NKAPL Synonymous SNV L260L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.086 300821 chr6 28358283 28358283 G A rs746083691 ZSCAN12 Nonsynonymous SNV A595V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.59 300822 chr19 7083739 7083739 A G rs777271095 ZNF557 Nonsynonymous SNV H426R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 300823 chr7 98601937 98601937 G A TRRAP Synonymous SNV K3435K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 300824 chr7 98988825 98988825 A G ARPC1B Synonymous SNV T244T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.877 300825 chr11 60610092 60610092 C T rs370785026 CCDC86 Synonymous SNV P165P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 300826 chr7 99799447 99799447 T A rs201153813 STAG3 Synonymous SNV I695I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.37 300827 chr6 35478765 35478765 G T rs147950414 TULP1 Nonsynonymous SNV D71E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.001 300828 chr6 35547978 35547978 C T rs145886162 FKBP5 Synonymous SNV A287A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.28 300829 chr11 62287578 62287578 C T rs143263481 AHNAK Nonsynonymous SNV V4771I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.032 300830 chr8 104987618 104987618 A T rs199696831 RIMS2 Nonsynonymous SNV L776F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 300831 chr8 105440273 105440273 T C rs201457190 DPYS Nonsynonymous SNV T343A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 300832 chr8 110376825 110376825 C T rs748852355 PKHD1L1 Synonymous SNV G41G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 300833 chr6 38709601 38709601 A G rs765524511 DNAH8 Nonsynonymous SNV K194E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 300834 chr11 64067096 64067096 G C rs756537203 KCNK4 Synonymous SNV P360P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 300835 chr19 9054256 9054256 T C MUC16 Nonsynonymous SNV T10456A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 300836 chr11 64665801 64665801 T C rs553911523 ATG2A Nonsynonymous SNV T1561A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.558 300837 chr6 43221401 43221401 C T rs564778177 TTBK1 Synonymous SNV I142I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.5 300838 chr8 3224553 3224553 C T CSMD1 0.001 0 0 0 1 0 0 0 0 0 0 0 24 300839 chr8 3224645 3224645 G A CSMD1 Synonymous SNV I1008I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.102 300840 chr6 44114623 44114623 G A rs377733970 TMEM63B Synonymous SNV P274P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.21 300841 chr8 130761752 130761752 G A rs374279128 GSDMC Synonymous SNV H411H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.235 300842 chr8 130788476 130788476 C T rs376005048 GSDMC Synonymous SNV K92K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.176 300843 chr6 46658288 46658288 A G rs772473402 TDRD6 Nonsynonymous SNV Y808C 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.6 300844 chr11 66260338 66260338 C T rs144416823 DPP3 Synonymous SNV T350T 0 0 0.007 0 0 0 0 2 0 0 0 0 14.83 300845 chr11 6636157 6636157 G C TPP1 Synonymous SNV R497R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.02 300846 chr6 49574608 49574608 C G rs553258732 RHAG Nonsynonymous SNV G389R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 300847 chr1 11561261 11561261 C T DISP3 Nonsynonymous SNV P71L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 300848 chr8 142228948 142228948 C T rs369040693 SLC45A4 Nonsynonymous SNV R213H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 300849 chr1 117122270 117122272 GTC - rs756842433 IGSF3 D1026del 0 0 0.003 0 0 0 0 1 0 0 0 0 300850 chr1 117484641 117484641 A G rs374330870 PTGFRN Synonymous SNV K118K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.487 300851 chr6 64004837 64004837 C T rs61758981 LGSN Synonymous SNV T48T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.88 300852 chr19 12460714 12460714 T C rs138589014 ZNF442 Nonsynonymous SNV H493R 0.001 0 0 0 1 0 0 0 0 0 0 0 22 300853 chr19 12739282 12739282 C G ZNF791 Synonymous SNV T313T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 300854 chr8 144696357 144696357 G A rs569059926 TSTA3 Nonsynonymous SNV R220W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 300855 chr19 13248092 13248092 C T rs544079071 NACC1 Synonymous SNV N376N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 300856 chr1 1267286 1267286 G T TAS1R3 Nonsynonymous SNV G154C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 300857 chr19 13873648 13873648 G A rs201484721 CCDC130 Synonymous SNV P174P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.981 300858 chr6 73110369 73110369 C T rs916862538 RIMS1 Stop gain Q205X 0 0 0 1 0 0 0.003 0 0 0 0 0 50 300859 chr19 14044172 14044172 G A rs751682655 PODNL1 Synonymous SNV G204G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 300860 chr11 74547702 74547702 G A rs376048273 RNF169 Nonsynonymous SNV R685Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 300861 chr6 7581672 7581672 T G DSP Nonsynonymous SNV L1750W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.31 300862 chr1 145562492 145562492 A C rs201892646 ANKRD35 Nonsynonymous SNV E637A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 300863 chr1 150049299 150049299 A G rs144659538 VPS45 Nonsynonymous SNV E153G 0 0 0.01 0 0 0 0 3 0 0 0 0 Uncertain significance 24.8 300864 chr8 145616893 145616893 C T rs782112833 ADCK5 Synonymous SNV H304H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 300865 chr8 145737878 145737878 G A rs373784742 RECQL4 Synonymous SNV S984S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.338 300866 chr19 16222798 16222798 C G rs142905665 RAB8A Synonymous SNV S29S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 300867 chr6 90397121 90397121 G A rs148868949 MDN1 Nonsynonymous SNV R3798W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 300868 chr1 154941007 154941007 G A rs756459349 SHC1 Synonymous SNV T238T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 300869 chr7 4249681 4249681 C A SDK1 Nonsynonymous SNV A296E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.27 300870 chr1 155784198 155784198 G A rs566549510 GON4L Nonsynonymous SNV R402C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 300871 chr7 142880879 142880879 G T rs776468709 TAS2R39 Nonsynonymous SNV C123F 0.003 0 0 0 3 0 0 0 0 0 0 0 12.79 300872 chr9 116132330 116132330 G A rs62636612 BSPRY Nonsynonymous SNV G378S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.797 300873 chr19 18876292 18876292 G A rs3746267 CRTC1 Nonsynonymous SNV R322H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 300874 chr19 19823471 19823471 T C ZNF14 Nonsynonymous SNV I207V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.226 300875 chr7 5104694 5104694 A G rs903213369 RBAK Nonsynonymous SNV E536G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.2 300876 chr1 160062119 160062119 G A rs143324284 IGSF8 Nonsynonymous SNV A560V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 300877 chr12 109494574 109494574 A G rs200167889 USP30 Synonymous SNV T57T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.095 300878 chr8 36768532 36768532 C G rs199697768 KCNU1 Nonsynonymous SNV P806A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 300879 chr12 109725257 109725289 GCACAGCCACGTGGGGCTGGGGGTAGGGGGGCC - rs781651584 FOXN4 R170_V180del 0 0 0.003 0 0 0 0 1 0 0 0 0 300880 chr7 1784840 1784840 G A rs536543788 ELFN1 Nonsynonymous SNV R203H 0.003 0 0 0 3 0 0 0 0 0 0 0 21 300881 chr1 162351728 162351728 C G C1orf226 Nonsynonymous SNV L13V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 300882 chr7 106301015 106301015 C T rs762311542 CCDC71L Nonsynonymous SNV D110N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 300883 chr12 113624563 113624563 C T rs200720243 RITA1 Synonymous SNV P28P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 300884 chr9 130496737 130496737 C A rs751230205 TOR2A Synonymous SNV P86P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.68 300885 chr12 114383661 114383661 T C rs554733672 RBM19 Nonsynonymous SNV N533S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.312 300886 chr12 119722587 119722587 G T rs77730490 LINC00934 0 0 0.003 0 0 0 0 1 0 0 0 0 0.406 300887 chr8 66620110 66620110 A G rs151130367 MTFR1 Nonsynonymous SNV D233G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 300888 chr19 35804347 35804347 G A rs778697016 MAG Nonsynonymous SNV R599Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 300889 chr1 169824967 169824967 G A rs201914700 SCYL3 Stop gain R482X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 300890 chr7 122377054 122377054 A T CADPS2 Synonymous SNV I136I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.782 300891 chr1 172002250 172002250 G A rs779582373 DNM3 Nonsynonymous SNV V232M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 300892 chr7 127999449 127999449 C G PRRT4 Synonymous SNV L199L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.168 300893 chr19 36326622 36326622 T C rs140673499 NPHS1 Nonsynonymous SNV T1051A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.17 300894 chr12 132212965 132212965 C T SFSWAP Nonsynonymous SNV T358M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 300895 chr9 100447258 100447258 C T rs763295621 XPA Nonsynonymous SNV R207Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 300896 chr19 39993693 39993693 G A DLL3 Synonymous SNV A216A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 300897 chr9 107594974 107594974 C T rs563149622 ABCA1 Nonsynonymous SNV V464M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 300898 chr8 106814548 106814548 A G ZFPM2 Synonymous SNV L693L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.9 300899 chr8 110396310 110396310 T G rs779060929 PKHD1L1 Nonsynonymous SNV F143L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.14 300900 chr8 11666230 11666230 C G rs766537198 FDFT1 Nonsynonymous SNV H68Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.75 300901 chr7 148769126 148769126 A G rs374473704 ZNF786 Synonymous SNV G246G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.716 300902 chr19 41949119 41949119 G A rs567385141 ERICH4 Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.452 300903 chr19 42863327 42863327 C T rs377685078 MEGF8 Synonymous SNV D1740D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 300904 chr12 26551906 26551906 C G rs370237159 ITPR2 Synonymous SNV L2533L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.97 300905 chr9 116044959 116044959 T C PRPF4 Synonymous SNV D142D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.123 300906 chr9 116346651 116346651 G A rs137990160 RGS3 Nonsynonymous SNV G308S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.934 300907 chr9 18681840 18681840 T C rs776273685 ADAMTSL1 Nonsynonymous SNV Y458H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 300908 chr12 2977735 2977735 G A rs753503113 FOXM1 Synonymous SNV G279G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 300909 chr9 117666450 117666450 C A rs767594084 TNFSF8 Nonsynonymous SNV V156F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.282 300910 chr7 150767935 150767935 G A rs777554845 SLC4A2 Synonymous SNV P553P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.793 300911 chr12 39154686 39154686 T C CPNE8 Nonsynonymous SNV I229V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 300912 chr9 119903734 119903734 T C rs145294644 ASTN2 Nonsynonymous SNV T347A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.23 300913 chr9 123723779 123723779 G C C5 Synonymous SNV A1529A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 300914 chr19 45377680 45377680 C T NECTIN2 Synonymous SNV C329C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 300915 chr19 45385595 45385595 G A rs754688954 NECTIN2 Synonymous SNV T390T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 300916 chr1 204589067 204589067 G A rs114877011 LRRN2 Synonymous SNV A18A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.958 300917 chr9 126143780 126143780 C T rs746084954 DENND1A Synonymous SNV P998P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.25 300918 chr19 47569901 47569901 C T ZC3H4 Synonymous SNV G1208G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.444 300919 chr9 128124998 128124998 C T GAPVD1 Synonymous SNV F1425F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 300920 chr9 130416035 130416035 C G rs765727571 STXBP1 Synonymous SNV S43S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.77 300921 chr9 130159527 130159527 A C rs966069923 SLC2A8 Synonymous SNV P6P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.058 300922 chr1 220440040 220440040 C T rs187728196 AURKAP1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.788 300923 chr9 88272485 88272485 G T AGTPBP1 Synonymous SNV R310R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.123 300924 chr9 88272486 88272486 C G AGTPBP1 Nonsynonymous SNV R310P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 300925 chr9 132400641 132400643 CCT - rs766556840 ASB6 E202del 0 0 0 1 0 0 0.003 0 0 0 0 0 300926 chr19 49714305 49714305 C G TRPM4 Nonsynonymous SNV I811M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 300927 chr19 49793893 49793893 G A rs770352865 SLC6A16 Nonsynonymous SNV P637L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 300928 chr9 134183597 134183597 G A rs144456858 PLPP7 Nonsynonymous SNV G247S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 300929 chr1 2268183 2268183 G C rs754572807 MORN1 Synonymous SNV P381P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 300930 chr7 42011995 42011995 T C rs760184006 GLI3 Nonsynonymous SNV T682A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.44 300931 chr19 51215303 51215303 C T rs201562791 SHANK1 Synonymous SNV T287T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 300932 chr9 135786937 135786937 G T TSC1 Nonsynonymous SNV P260H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 300933 chr9 136208360 136208360 C T rs377187824 MED22 Nonsynonymous SNV A200T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 300934 chr12 56352285 56352285 T G PMEL Nonsynonymous SNV R61S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 300935 chr1 23370966 23370966 C T rs757289573 KDM1A Synonymous SNV D188D 0 0 0.007 0 0 0 0 2 0 0 0 0 14.49 300936 chr1 2338324 2338324 C T rs199934621 PEX10 Nonsynonymous SNV R204H 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 5.916 300937 chr9 139835788 139835788 G A rs111761422 FBXW5 Nonsynonymous SNV R458W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 300938 chr12 66839199 66839199 C T rs771823092 GRIP1 Nonsynonymous SNV G430R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 300939 chr7 55233024 55233024 G A rs144943614 EGFR Nonsynonymous SNV V325I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 300940 chr9 14842536 14842536 T G rs771469957 FREM1 Nonsynonymous SNV I506L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 300941 chr9 15474030 15474032 CTT - rs757199981 PSIP1 E278del 0.001 0 0 0 1 0 0 0 0 0 0 0 300942 chr1 24495968 24495968 C T rs78627520 IFNLR1 Synonymous SNV T102T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 300943 chr1 246021874 246021874 C T rs746439301 SMYD3 Nonsynonymous SNV A334T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 300944 chr9 32459400 32459400 G C DDX58 Nonsynonymous SNV A817G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 300945 chr7 82544951 82544951 A C rs746559327 PCLO Nonsynonymous SNV D4117E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 300946 chr9 32632086 32632086 G A TAF1L Synonymous SNV H1164H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.671 300947 chr8 38874827 38874827 A G ADAM9 Nonsynonymous SNV D167G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.2 300948 chr19 55997816 55997816 C T NAT14 Synonymous SNV A38A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 300949 chr12 99056256 99056256 G A APAF1 Nonsynonymous SNV V234I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 300950 chr7 96635420 96635420 - GCAGCAGCAGCAACAGCAACAGCC DLX6 Q44_P45insQQQQQQQP 0 0 0 1 0 0 0.003 0 0 0 0 0 300951 chr1 2543639 2543639 C A MMEL1 Nonsynonymous SNV K53N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 300952 chr9 712005 712005 C T rs148387245 KANK1 Synonymous SNV V255V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.86 300953 chr13 110833688 110833688 C A rs199573161 COL4A1 Nonsynonymous SNV R715L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 300954 chr19 57755299 57755299 G - ZNF805 T14Pfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 300955 chr8 11666233 11666235 CCA - FDFT1 H70del 0 0 0 1 0 0 0.003 0 0 0 0 0 300956 chr8 11666238 11666240 CCC - FDFT1 S71_H72delinsY 0 0 0 1 0 0 0.003 0 0 0 0 0 300957 chr8 110457424 110457424 T C rs767500275 PKHD1L1 Synonymous SNV L1776L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 300958 chr8 11841980 11841980 C T rs201046546 DEFB135 Stop gain R39X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 300959 chr19 58823684 58823684 C T rs966706972 ERVK3-1, ZNF8-ERVK3-1 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 300960 chr9 88248173 88248173 T C AGTPBP1 Synonymous SNV R525R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.154 300961 chr19 58988731 58988731 A G rs375482013 ZNF446 Nonsynonymous SNV E49G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 300962 chr20 1294019 1294019 C G rs767037068 SDCBP2 Nonsynonymous SNV G32R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 300963 chr8 126445729 126445729 G A TRIB1 Synonymous SNV L11L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.443 300964 chr8 12946164 12946164 G A rs776594367 DLC1 Nonsynonymous SNV P864L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.36 300965 chr8 141900783 141900783 A T PTK2 Synonymous SNV T18T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 300966 chr20 10579338 10579350 TCACAGCCTATTT - rs773730225 SLX4IP I85Tfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 300967 chr9 113341695 113341695 G A rs753382242 SVEP1 Synonymous SNV P43P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.45 300968 chrX 132159968 132159968 G T rs771295598 USP26 Nonsynonymous SNV P761T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.629 300969 chr8 72950266 72950266 T A TRPA1 Nonsynonymous SNV L779F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 300970 chr8 144557738 144557738 C T rs17855618 ZC3H3 Nonsynonymous SNV R578H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 300971 chr8 144654851 144654851 G A rs566873214 MROH6 Nonsynonymous SNV R12W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 300972 chr1 49224573 49224573 G A rs12090576 BEND5 Synonymous SNV S79S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 300973 chr13 99099055 99099055 G A rs759394760 FARP1 Nonsynonymous SNV E1014K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 300974 chr9 119976770 119976770 G C ASTN2 Nonsynonymous SNV D294E 0 0.003 0 0 0 1 0 0 0 0 0 0 21 300975 chr20 30436287 30436287 C T rs45614631 DUSP15 Nonsynonymous SNV G270S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.004 300976 chrX 153736204 153736204 G A FAM3A Nonsynonymous SNV P115L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.214 300977 chr20 35269683 35269685 GAG - rs762165716 SLA2 S19del 0.001 0 0 0 1 0 0 0 0 0 0 0 300978 chr20 37580965 37580965 G C rs201963971 FAM83D Nonsynonymous SNV L520F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 300979 chr20 42935765 42935765 G A FITM2 Synonymous SNV L97L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.696 300980 chr1 64102016 64102016 C T rs778199808 PGM1 Nonsynonymous SNV R347C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 300981 chrX 53349749 53349749 C T IQSEC2 Synonymous SNV A191A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 300982 chr9 115422309 115422309 A G KIAA1958 Nonsynonymous SNV Q704R 0.003 0 0 0 3 0 0 0 0 0 0 0 22.6 300983 chr9 115950114 115950114 C A rs45559933 FKBP15 Nonsynonymous SNV D448Y 0.003 0 0 0 3 0 0 0 0 0 0 0 26 300984 chr1 8418293 8418293 G A rs761287277 RERE Synonymous SNV S880S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.39 300985 chrX 71428437 71428437 G A rs750718719 ERCC6L Synonymous SNV I60I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.554 300986 chr20 52773722 52773722 C T rs986387333 CYP24A1 Nonsynonymous SNV R448Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 300987 chr14 23352584 23352584 G A rs151172050 REM2 Nonsynonymous SNV G30R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 300988 chr14 24632352 24632352 G A rs377127138 IRF9 Nonsynonymous SNV V120I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.106 300989 chr10 102766459 102766459 G A rs528162274 LZTS2 Nonsynonymous SNV R295Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 300990 chr14 24774864 24774864 T G rs373728856 CIDEB Nonsynonymous SNV Q212P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.332 300991 chr10 101689473 101689473 T C rs927330761 DNMBP Nonsynonymous SNV K350E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.86 300992 chr20 60736635 60736635 C T rs371903320 SS18L1 Synonymous SNV N125N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 300993 chr9 138557194 138557194 G C rs61742118 LCN9 Synonymous SNV A137A 0 0.003 0 0 0 1 0 0 0 0 0 0 3.231 300994 chr8 29923657 29923657 - ATTGCTGCCAAACAAATATCCTAGTATTCCACCAGTTCCCAAGCCTGTCCAGAACCCTGGTCCTGAATTTTCA SARAF 0 0 0 1 0 0 0.003 0 0 0 0 0 300995 chr14 36096533 36096533 A G rs200608108 RALGAPA1 Nonsynonymous SNV I2160T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.507 300996 chr9 139287129 139287129 T C rs145158126 SNAPC4 Nonsynonymous SNV I245V 0 0.003 0 0 0 1 0 0 0 0 0 0 23 300997 chr14 38293009 38293009 A T TTC6 Synonymous SNV P241P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.436 300998 chr1 93309234 93309234 A T DIPK1A Stop gain C286X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 300999 chr8 38172252 38172252 C T NSD3 Nonsynonymous SNV G719R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 301000 chr14 50472227 50472227 C T LINC01588 0 0 0.003 0 0 0 0 1 0 0 0 0 1.312 301001 chr10 119799761 119799761 C T rs62641701 RAB11FIP2 Synonymous SNV S223S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 301002 chr20 17639816 17639816 T G rs62207198 RRBP1 Nonsynonymous SNV Q446P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.108 301003 chr8 77763592 77763592 G C rs199806926 ZFHX4 Nonsynonymous SNV D1479H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 301004 chr14 65194632 65194632 G A PLEKHG3 Nonsynonymous SNV G95S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 301005 chr8 94748370 94748370 C T rs192829492 RBM12B Nonsynonymous SNV R90H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.96 301006 chr14 68126588 68126588 G T rs767520894 VTI1B Nonsynonymous SNV P76T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 301007 chr21 40177917 40177917 G A ETS2 Nonsynonymous SNV R98Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 301008 chr14 74874690 74874690 G A rs60246711 SYNDIG1L Synonymous SNV S140S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.661 301009 chr20 31984665 31984665 A T rs749659479 CDK5RAP1 Stop gain L69X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 38 301010 chr20 32251496 32251496 - CTG rs755984673 C20orf144 L99_R100insL 0 0 0.003 1 0 0 0.003 1 0 0 0 0 301011 chr10 14941281 14941281 C T rs1043394568 DCLRE1C Nonsynonymous SNV G490S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 301012 chr20 33578285 33578285 G T rs771354945 MIR499A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 301013 chr14 90651076 90651076 T C rs764202243 KCNK13 Nonsynonymous SNV V319A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 301014 chr21 45859018 45859018 G C rs201919755 TRPM2 Synonymous SNV P93P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.749 301015 chr10 25304829 25304829 G A ENKUR Nonsynonymous SNV L13F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 301016 chr9 116080892 116080892 T A rs1051462869 WDR31 Nonsynonymous SNV N144I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.155 301017 chr20 42302447 42302447 G A MYBL2 Nonsynonymous SNV E8K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 301018 chr21 47404266 47404266 C T rs781396484 COL6A1 Nonsynonymous SNV T104M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.37 301019 chr21 47809120 47809120 C T rs761787113 PCNT Nonsynonymous SNV A1087V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.176 301020 chr9 125033225 125033225 C T rs139563429 MRRF Nonsynonymous SNV L19F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 301021 chr9 125033231 125033231 G T rs145127844 MRRF, MRRF Nonsynonymous SNV A21S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 301022 chr22 19708353 19708353 C T rs370825391 SEPTIN5 Synonymous SNV D235D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 301023 chr9 126125353 126125353 G A rs758718182 CRB2 Nonsynonymous SNV G102S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 301024 chr20 55108594 55108594 C T rs368304173 FAM209B Nonsynonymous SNV A66V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 301025 chr20 55967519 55967519 C G RBM38 Nonsynonymous SNV P102A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.649 301026 chr20 5939177 5939177 G A rs139966104 MCM8 Synonymous SNV V198V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.136 301027 chr10 47087520 47087520 G A rs115443559 NPY4R, NPY4R2 Nonsynonymous SNV R246H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.962 301028 chr20 60897465 60897465 G A rs201193135 LAMA5 Nonsynonymous SNV P2069L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 301029 chr10 50820112 50820112 T C SLC18A3 Synonymous SNV I442I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.321 301030 chr10 52596064 52596064 C T rs148254279 A1CF Nonsynonymous SNV R125H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 301031 chr15 41988472 41988472 A G rs775952076 MGA Nonsynonymous SNV I422V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 301032 chr10 50827818 50827818 G A rs77296560 CHAT Synonymous SNV T27T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.603 301033 chr10 50954842 50954842 G A OGDHL Nonsynonymous SNV P208L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301034 chr9 134350952 134350952 A G PRRC2B Nonsynonymous SNV K1146E 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 301035 chr22 29025743 29025743 C T rs182730993 TTC28 Nonsynonymous SNV E60K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301036 chr20 62197572 62197572 C T rs761392327 HELZ2 Nonsynonymous SNV R299Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 301037 chr9 85928586 85928586 G T FRMD3 Nonsynonymous SNV H31N 0.003 0 0 0 3 0 0 0 0 0 0 0 28.1 301038 chrX 70836369 70836369 T C CXCR3 Nonsynonymous SNV Y365C 0 0.005 0 0 0 2 0 0 0 1 0 0 25.9 301039 chr10 69583094 69583094 C T DNAJC12 Synonymous SNV K45K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 301040 chr22 31521583 31521583 G A INPP5J Synonymous SNV E286E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 301041 chr10 71175852 71175852 C T rs147969214 TACR2 Synonymous SNV A76A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 301042 chr21 30959797 30959797 T C rs547214043 GRIK1 Nonsynonymous SNV N422S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 301043 chr9 139265456 139265456 C T rs145198648 CARD9 Nonsynonymous SNV R155H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 301044 chr21 31691830 31691830 C A rs142191601 KRTAP26-1 Nonsynonymous SNV S175I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 301045 chr15 58984232 58984232 T C rs760810578 HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.98 301046 chr10 75305340 75305340 G C rs144497064 USP54 Nonsynonymous SNV Q111E 0.002 0 0 0 2 0 0 0 1 0 0 0 22.7 301047 chr21 34809233 34809233 G A rs17885407 IFNGR2 Synonymous SNV P326P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.569 301048 chr10 77158885 77158885 G A ZNF503 Synonymous SNV A521A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.327 301049 chr21 40190444 40190444 G A rs577157851 ETS2 Nonsynonymous SNV V229I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.353 301050 chrX 138643939 138643939 A G rs112057482 F9 Synonymous SNV S327S 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign/Likely benign 0.051 301051 chr21 40781985 40781985 T C rs138224767 LCA5L Nonsynonymous SNV K401R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 301052 chr22 40366959 40366959 C T rs751156654 GRAP2 Synonymous SNV D175D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 301053 chr21 41719824 41719824 C T rs775315155 DSCAM Nonsynonymous SNV G328D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 301054 chr22 41513566 41513566 C T EP300 Nonsynonymous SNV P157L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 301055 chr22 41940025 41940025 G C rs199861895 POLR3H Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 301056 chr22 43230278 43230278 T C rs137902718 ARFGAP3 Synonymous SNV E105E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.236 301057 chrX 152585044 152585044 G A PNMA6F Synonymous SNV G363G 0.004 0 0 0 5 0 0 0 1 0 0 0 5.825 301058 chr10 96829002 96829002 G A CYP2C8 Nonsynonymous SNV S53F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 301059 chr21 43852246 43852246 G A rs142660340 UBASH3A Nonsynonymous SNV R364H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301060 chr9 2729716 2729716 C T KCNV2 Stop gain Q543X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 301061 chr10 98742112 98742112 G A rs757902954 LCOR Nonsynonymous SNV G632D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 301062 chr10 96162912 96162912 A G rs1038544828 TBC1D12 Nonsynonymous SNV D181G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.188 301063 chr15 78882181 78882181 A G rs781155351 CHRNA5 Nonsynonymous SNV T150A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.22 301064 chr9 34627782 34627782 C T rs1053346797 ARID3C Nonsynonymous SNV R77H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 301065 chr21 45798951 45798951 C T TRPM2 Synonymous SNV V362V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.551 301066 chr15 81234296 81234296 G A rs775014988 CEMIP Nonsynonymous SNV A1172T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 301067 chr22 46657511 46657511 G A rs745404074 PKDREJ Nonsynonymous SNV P570L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 301068 chr9 6328766 6328766 T C TPD52L3 Synonymous SNV C57C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.486 301069 chr9 6536219 6536219 T C rs141152043 GLDC Nonsynonymous SNV M895V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.14 301070 chr15 86262545 86262545 G A rs114643212 AKAP13 Synonymous SNV V701V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 301071 chr15 90176987 90176987 C T rs750616880 KIF7 Nonsynonymous SNV R841Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 301072 chrX 37985896 37985896 C T rs770743710 SYTL5 Synonymous SNV R724R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 301073 chr9 91930160 91930160 A C rs377258080 CKS2 Nonsynonymous SNV R45S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 301074 chrX 44929154 44929154 C T rs753811835 KDM6A Nonsynonymous SNV H673Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.19 301075 chrX 46433393 46433393 A G CHST7 Synonymous SNV R9R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.279 301076 chr16 1034721 1034721 A C SOX8 Nonsynonymous SNV T226P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 301077 chr9 95264801 95264801 T G ECM2 Nonsynonymous SNV N511T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 301078 chr11 10585573 10585573 G A rs147788904 LYVE1 Nonsynonymous SNV P104L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 301079 chr22 25598755 25598755 G A rs761093453 CRYBB3 Nonsynonymous SNV G64R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301080 chr11 105924642 105924642 T C KBTBD3 Synonymous SNV E179E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 301081 chr22 28379103 28379103 G A rs148825394 TTC28 Synonymous SNV G2184G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.734 301082 chr22 29099544 29099544 A G CHEK2 Nonsynonymous SNV I219T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.5 301083 chr11 10800414 10800414 G A rs141434094 CTR9 Nonsynonymous SNV R1071K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.73 301084 chr11 34181503 34181503 T G ABTB2 Nonsynonymous SNV E852D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 301085 chr16 16208834 16208834 C T rs138611024 ABCC1 Synonymous SNV S1097S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 301086 chrX 100076586 100076586 T C CSTF2 Synonymous SNV V43V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.641 301087 chrX 101138801 101138801 C A ZMAT1 Nonsynonymous SNV G533V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 301088 chrX 140993947 140993947 - CCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCC MAGEC1 Frameshift insertion E254Tfs*22 0.002 0 0 0 2 0 0 0 1 0 0 0 301089 chr16 20373740 20373740 T - PDILT S468Afs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 301090 chr16 21042439 21042439 C A DNAH3 Nonsynonymous SNV W1743C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 301091 chr16 21983379 21983379 G A rs752198378 UQCRC2 Nonsynonymous SNV R301K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 301092 chr1 34006858 34006858 T C rs763477164 CSMD2 Nonsynonymous SNV N2966S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.169 301093 chr16 24918492 24918492 G A SLC5A11 Nonsynonymous SNV G351S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 301094 chr22 40661456 40661456 G C TNRC6B Nonsynonymous SNV D408H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 301095 chr22 40661776 40661776 G A TNRC6B Synonymous SNV P514P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.121 301096 chr22 41077922 41077922 A C rs755965606 MCHR1 Nonsynonymous SNV K420T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 301097 chr16 28855758 28855758 C T TUFM Nonsynonymous SNV A267T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 301098 chr16 29998211 29998211 G C rs770242526 TAOK2 Nonsynonymous SNV W873S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 301099 chr22 42608821 42608821 T C TCF20 Nonsynonymous SNV M831V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 301100 chrX 152710211 152710211 G A rs145351495 TREX2 Synonymous SNV Y226Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 301101 chr11 123900605 123900605 C T OR10G8 Synonymous SNV S92S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.123 301102 chr22 43924767 43924767 G C EFCAB6 Nonsynonymous SNV S1339C 0 0 0.007 0 0 0 0 2 0 0 1 0 25.1 301103 chr16 31144089 31144089 C T rs377099926 PRSS8 Nonsynonymous SNV R151Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 301104 chrX 153187091 153187091 C T rs782735515 ARHGAP4 Nonsynonymous SNV R80H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 301105 chrX 15818028 15818028 T G rs201893706 ZRSR2 Nonsynonymous SNV F52C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.206 301106 chr16 3778413 3778424 TGTTGCTGCTGT - rs776419949 CREBBP Q2175_Q2178del 0 0 0.003 0 0 0 0 1 0 0 0 0 301107 chr1 1163892 1163892 C T rs772948618 SDF4 Synonymous SNV A94A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.09 301108 chr10 32306221 32306221 C T rs377196810 KIF5B Nonsynonymous SNV A871T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 301109 chr1 1288686 1288686 C A MXRA8 Nonsynonymous SNV A450S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.199 301110 chrX 36324950 36324950 A G CFAP47 Nonsynonymous SNV R2716G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 301111 chrX 47001752 47001752 G A rs782006527 NDUFB11 Synonymous SNV F142F 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.54 301112 chrX 47062057 47062057 A C rs782342123 UBA1 Synonymous SNV V359V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.133 301113 chr1 2116899 2116899 A G rs569078307 FAAP20 Nonsynonymous SNV Y130H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.288 301114 chr16 49672322 49672322 G A rs758165129 ZNF423 Synonymous SNV N130N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.761 301115 chrX 53112146 53112146 C T rs144264921 TSPYL2 Nonsynonymous SNV P156S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.329 301116 chr11 55339743 55339743 T - rs777270055 OR4C16 V47Afs*29 0.001 0 0 0 1 0 0 0 0 0 0 0 301117 chr11 17581153 17581153 G A rs528799547 OTOG Nonsynonymous SNV R441Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 22.2 301118 chr2 102625081 102625081 C A IL1R2 Nonsynonymous SNV T15N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 301119 chr1 7724997 7724997 C T rs146965754 CAMTA1 Nonsynonymous SNV S767L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 301120 chr2 103130658 103130658 G A rs549805693 SLC9A4 Nonsynonymous SNV E557K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 301121 chr16 618195 618195 T C rs766564608 NHLRC4 Nonsynonymous SNV C50R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 301122 chr10 101421233 101421233 C G rs148623178 ENTPD7 Synonymous SNV S13S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.05 301123 chr2 111425143 111425143 A G rs369615437 BUB1 Synonymous SNV L234L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.947 301124 chr1 11014128 11014128 G A rs569149753 C1orf127 Synonymous SNV A210A 0 0.003 0 0 0 1 0 0 0 0 0 0 6.849 301125 chr2 11245507 11245507 T C rs7421355 FLJ33534 0 0 0.007 0 0 0 0 2 0 0 1 0 0.97 301126 chr16 68057086 68057086 A G DDX28 Nonsynonymous SNV V7A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 301127 chr16 68386231 68386231 C T rs61742685 PRMT7 Synonymous SNV T448T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 301128 chr1 11736176 11736176 A G rs542007676 MAD2L2 Synonymous SNV H118H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.221 301129 chr16 705335 705335 C T WDR90 Nonsynonymous SNV R529W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 301130 chr1 12195668 12195668 A G TNFRSF8 Nonsynonymous SNV T334A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 301131 chr1 12348304 12348304 A C VPS13D Nonsynonymous SNV N1887H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 301132 chr11 299371 299371 C A rs79625057 IFITM5 Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.52 301133 chr1 15831222 15831222 T C rs552167727 CASP9 Nonsynonymous SNV Y251C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 301134 chr16 77389869 77389869 G T rs774500379 ADAMTS18 Synonymous SNV S304S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.578 301135 chr1 16475172 16475172 C T rs759687964 EPHA2 Nonsynonymous SNV R121H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.7 301136 chr2 141215130 141215130 C T rs745619703 LRP1B Nonsynonymous SNV R3239H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301137 chr1 16770154 16770154 A G rs200956517 NECAP2 Synonymous SNV P40P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.214 301138 chr11 58949749 58949749 T A DTX4 Nonsynonymous SNV L144Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 301139 chr2 166179788 166179788 C T SCN2A Synonymous SNV H598H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 301140 chr2 166868706 166868706 A G rs748271075 SCN1A Synonymous SNV I1264I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.41 301141 chr11 4661680 4661680 G T rs1043962012 OR51D1 Nonsynonymous SNV M220I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.785 301142 chr11 47355528 47355528 C T rs727503179 MYBPC3 Nonsynonymous SNV R980H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 301143 chr16 88802781 88802781 G A rs745382579 PIEZO1 Synonymous SNV F444F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 301144 chr11 47510561 47510561 G A rs370927221 CELF1 Synonymous SNV N2N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 301145 chr2 171570075 171570075 A T LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 5.569 301146 chr1 26888016 26888016 C T rs112552710 RPS6KA1 Synonymous SNV H493H 0 0.003 0 0 0 1 0 0 0 0 0 0 16.35 301147 chr2 179595292 179595292 T C rs570762307 TTN Nonsynonymous SNV T4746A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 301148 chr16 9857058 9857058 C T rs764756799 GRIN2A Nonsynonymous SNV C1448Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.7 301149 chr17 10549160 10549160 G A rs142547724 MYH3 Synonymous SNV S335S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 9.892 301150 chr2 182402916 182402916 - TGGAATCATTTCTTCCA CERKL Stop gain K419Wfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 301151 chr17 12905878 12905878 C G rs373534638 ELAC2 Nonsynonymous SNV Q326H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 301152 chr17 1657647 1657647 G T rs764118664 SERPINF2 Nonsynonymous SNV S368I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 301153 chr10 17061893 17061893 C A CUBN Synonymous SNV L1369L 0 0 0 2 0 0 0.005 0 0 0 0 0 13.51 301154 chr17 17761156 17761156 G A rs570082658 TOM1L2 Nonsynonymous SNV S283L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 301155 chr17 18041527 18041527 G A MYO15A Synonymous SNV L1658L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.712 301156 chr10 22497999 22497999 G C EBLN1 Nonsynonymous SNV A305G 0 0 0 2 0 0 0.005 0 0 0 0 0 23 301157 chr17 18167823 18167823 G A rs142149649 MIEF2 Synonymous SNV L370L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.829 301158 chr11 64939418 64939418 C T SPDYC Synonymous SNV D68D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 301159 chr11 65112081 65112081 C T rs539873389 DPF2 Nonsynonymous SNV A223V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 301160 chr11 65367032 65367032 G A rs199769348 MAP3K11 Nonsynonymous SNV T680M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.437 301161 chr2 202622432 202622432 G A rs372566343 ALS2 Synonymous SNV S388S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.441 301162 chr11 65743955 65743955 C T rs141735982 SART1 Synonymous SNV N554N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.25 301163 chr11 66258783 66258783 C T rs774843283 DPP3 Nonsynonymous SNV P213S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.102 301164 chr2 21232059 21232059 G A rs748303489 APOB Nonsynonymous SNV L2561F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.332 301165 chr2 215440540 215440540 T C rs905828299 VWC2L Nonsynonymous SNV V222A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 301166 chr11 103027331 103027331 G A rs890283765 DYNC2H1 Nonsynonymous SNV G1320E 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 301167 chr2 218700880 218700880 C T rs746744855 TNS1 Nonsynonymous SNV R896Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 301168 chr1 55474040 55474040 G A rs148085906 BSND Synonymous SNV P234P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.564 301169 chr11 108114838 108114838 T C rs771685059 ATM Nonsynonymous SNV C219R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.478 301170 chr11 562514 562514 G A rs763841841 RASSF7 Nonsynonymous SNV R187Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.36 301171 chr17 37319094 37319094 A G rs1036937141 ARL5C Nonsynonymous SNV V42A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 301172 chr2 222428686 222428686 T A EPHA4 Synonymous SNV S145S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.792 301173 chr10 75156333 75156333 G A rs182592231 ANXA7 Nonsynonymous SNV P87S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 301174 chr10 61572418 61572418 C T CCDC6 Synonymous SNV K274K 0 0 0 2 0 0 0.005 0 0 0 0 0 12.11 301175 chr2 228172594 228172594 T C rs200302125 COL4A3 Nonsynonymous SNV L1474P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 301176 chr17 39305580 39305580 A G KRTAP4-5 Nonsynonymous SNV V147A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.116 301177 chr2 232889039 232889039 C T rs202059499 DIS3L2 Nonsynonymous SNV P88L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.8 301178 chr1 78325810 78325810 A G rs771836885 MIGA1 Nonsynonymous SNV K425R 0 0.005 0 0 0 2 0 0 0 1 0 0 24.2 301179 chr1 84386832 84386832 G A rs144531372 TTLL7 Synonymous SNV L407L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.36 301180 chr2 233390035 233390035 C T rs927010024 PRSS56 Nonsynonymous SNV P544L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 301181 chr11 59811021 59811021 G A rs199849874 OOSP2 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 301182 chr17 39925367 39925367 G A rs139552714 JUP Synonymous SNV A187A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.965 301183 chr11 124744780 124744780 C T rs778522624 ROBO3 Nonsynonymous SNV P683L 0.003 0 0 0 4 0 0 0 0 0 0 0 Uncertain significance 20.3 301184 chr11 62291831 62291831 T C rs750429897 AHNAK Nonsynonymous SNV K3353R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 301185 chr12 10337966 10337966 T C rs780856456 TMEM52B Nonsynonymous SNV W26R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 301186 chr11 62393321 62393321 T C rs976188802 GANAB Nonsynonymous SNV N820S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.917 301187 chr17 4623920 4623920 T C rs140958607 ARRB2 Nonsynonymous SNV I182T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 301188 chr17 46801724 46801724 - G rs369888513 PRAC2 Frameshift insertion V37Gfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 301189 chr2 27719798 27719798 T C GCKR Synonymous SNV H9H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.86 301190 chr11 63487010 63487010 C T RTN3 Nonsynonymous SNV P234S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 301191 chr17 4845725 4845725 G A rs147594212 RNF167 Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 301192 chr1 113217612 113217612 G A rs115306449 MOV10 Synonymous SNV L26L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 13.17 301193 chr11 6477850 6477850 G A TRIM3 Nonsynonymous SNV P250L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 301194 chr17 49071166 49071173 GTGAAACT - SPAG9 S627Cfs*74 0 0 0.003 0 0 0 0 1 0 0 0 0 301195 chr10 98469349 98469349 T C rs376969413 PIK3AP1 Synonymous SNV A135A 0.002 0 0 2 2 0 0.005 0 0 0 0 0 Likely benign 6.173 301196 chr1 119964807 119964807 T C HSD3B2 Nonsynonymous SNV V228A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.7 301197 chr11 6567637 6567637 G A rs762942301 DNHD1 Nonsynonymous SNV R1823Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301198 chr2 48027721 48027721 G A rs745954217 MSH6 Nonsynonymous SNV V737I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.33 301199 chr1 150235767 150235767 C T rs587602115 CA14 Stop gain R264X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 301200 chr1 150551864 150551864 A G MCL1 Nonsynonymous SNV I48T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.918 301201 chr2 55254581 55254581 C T rs138402788 RTN4 Synonymous SNV S12S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 301202 chr2 55573323 55573323 C T rs113785488 CCDC88A Synonymous SNV K343K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.99 301203 chr11 66469100 66469100 G A rs147327184 SPTBN2 Nonsynonymous SNV P924L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 301204 chr1 216051172 216051172 G A rs200802261 USH2A Nonsynonymous SNV P2870L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 301205 chr11 68822759 68822759 G A rs559693513 TPCN2 Nonsynonymous SNV G123D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 301206 chr17 72342536 72342536 G A rs370601800 KIF19 Nonsynonymous SNV R266H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 301207 chr2 84848383 84848383 C T rs369285821 DNAH6 Synonymous SNV A1287A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 301208 chr17 72929522 72929522 A C rs138994724 OTOP2 Nonsynonymous SNV E524A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 301209 chr11 109294782 109294782 C T C11orf87 Synonymous SNV C141C 0 0 0 2 0 0 0.005 0 0 0 0 0 5.177 301210 chr2 98340773 98340773 G A ZAP70 Nonsynonymous SNV D92N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 301211 chr11 7727938 7727938 G A OVCH2 Nonsynonymous SNV L2F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.99 301212 chr11 7818111 7818111 G A rs770119176 OR5P2 Nonsynonymous SNV L127F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 301213 chr17 7592271 7592271 C T rs759428765 WRAP53 Nonsynonymous SNV T102I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.073 301214 chr1 160314539 160314539 G A rs754692403 NCSTN Nonsynonymous SNV R38K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.6 301215 chr3 101240816 101240816 G A rs1053434702 FAM172BP 0 0 0.003 0 0 0 0 1 0 0 0 0 5.449 301216 chr11 8646749 8646749 G A rs907128163 TRIM66 Synonymous SNV G634G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.126 301217 chr1 167871018 167871018 C T rs773349911 ADCY10 Synonymous SNV R14R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 301218 chr17 78389577 78389577 C T rs377339183 ENDOV Nonsynonymous SNV R62C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 301219 chr1 172348242 172348242 G A rs749628094 DNM3 Nonsynonymous SNV V656I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 301220 chr11 94113933 94113933 G T rs61734489 GPR83 Nonsynonymous SNV D176E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.025 301221 chr17 8046147 8046147 C T rs12937495 PER1 Nonsynonymous SNV V1027I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 24.4 301222 chr12 101680273 101680273 G A rs142220773 UTP20 Nonsynonymous SNV M167I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.78 301223 chr17 8076882 8076882 G A rs12940891 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 16.74 301224 chr11 1251759 1251759 C T rs779700720 MUC5B Nonsynonymous SNV R467W 0 0 0 2 0 0 0.005 0 0 0 0 0 20.3 301225 chr11 126075446 126075446 C T rs374917155 RPUSD4 Nonsynonymous SNV R238Q 0 0 0 2 0 0 0.005 0 0 0 0 0 16.5 301226 chr1 200587668 200587668 C T rs998173002 KIF14 Nonsynonymous SNV D62N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 301227 chr18 33706642 33706642 C T rs137934549 SLC39A6 Nonsynonymous SNV R110H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.85 301228 chr11 19735280 19735280 A C rs146393896 NAV2 Synonymous SNV G13G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.777 301229 chr3 138384010 138384010 C T rs139325460 PIK3CB Nonsynonymous SNV R359H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 301230 chr1 203037629 203037629 T C rs377478528 PPFIA4 Nonsynonymous SNV I1057T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 301231 chr3 14801445 14801445 C G C3orf20 Synonymous SNV P642P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.688 301232 chr12 120241184 120241184 G C rs200052993 CIT Nonsynonymous SNV P374R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 26.5 301233 chr3 160149607 160149607 A G SMC4 Synonymous SNV K1097K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.773 301234 chr11 2188698 2188698 C T rs150559011 TH Nonsynonymous SNV R221H 0 0 0 2 0 0 0.005 0 0 0 0 0 18.61 301235 chr11 32118764 32118764 G A rs764118547 RCN1 Nonsynonymous SNV R110Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 301236 chr3 161214694 161214694 G A rs766869236 OTOL1 Synonymous SNV K33K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 301237 chr2 28050575 28050575 C T rs371321802 RBKS Synonymous SNV G218G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.38 301238 chr18 5840768 5840768 T - rs769392160 MIR3976 0 0 0.003 0 0 0 0 1 0 0 0 0 301239 chr12 12870898 12870898 C T rs200422211 CDKN1B Nonsynonymous SNV T42I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.56 301240 chr12 124191384 124191384 C T rs139902134 TCTN2 Synonymous SNV P626P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.971 301241 chr18 65179701 65179703 AAC - DSEL V715del 0 0 0.003 0 0 0 0 1 0 0 0 0 301242 chr2 31135146 31135146 G A rs143761183 GALNT14 Nonsynonymous SNV P405L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.525 301243 chr11 294577 294577 G A rs748832117 PGGHG Nonsynonymous SNV R681H 0 0 0 2 0 0 0.005 0 0 0 0 0 1.732 301244 chr2 33813464 33813464 C T FAM98A Nonsynonymous SNV G154R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 301245 chr11 3114884 3114884 C A rs780486840 OSBPL5 Nonsynonymous SNV V539L 0 0 0 2 0 0 0.005 0 0 0 0 0 28.3 301246 chr11 45935888 45935888 T C rs779235562 PEX16 Nonsynonymous SNV I225V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.91 301247 chr12 14619514 14619514 G A ATF7IP Nonsynonymous SNV S950N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 301248 chr18 72999957 72999957 C T rs748243048 TSHZ1 Synonymous SNV S865S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.094 301249 chr18 74536358 74536358 C T rs150569534 ZNF236 Synonymous SNV D15D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.607 301250 chr1 227921229 227921229 G A rs141021924 JMJD4 Synonymous SNV C282C 0 0.003 0 0 0 1 0 0 0 0 0 0 2.339 301251 chr11 35965686 35965686 G C rs182109405 LDLRAD3 Nonsynonymous SNV S13T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.73 301252 chr12 132479486 132479486 A C rs369396888 EP400 Nonsynonymous SNV N938H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.156 301253 chr12 1937321 1937321 G C rs200752924 LRTM2 Nonsynonymous SNV A3P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.996 301254 chr11 47510540 47510540 G C rs773447970 CELF1 Nonsynonymous SNV D9E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.89 301255 chr11 47819610 47819610 G A rs761838530 NUP160 Nonsynonymous SNV R1035W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 301256 chr3 193051622 193051622 C T rs771136195 ATP13A5 Nonsynonymous SNV D397N 0 0 0.003 0 0 0 0 1 0 0 0 0 35 301257 chr3 194080696 194080696 G T rs9682541 LRRC15 Nonsynonymous SNV N359K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 301258 chr11 4470690 4470690 C A OR52K2 Nonsynonymous SNV L41M 0 0 0 2 0 0 0.005 0 0 0 0 0 10.96 301259 chr2 55254615 55254615 A G rs768050376 RTN4 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 301260 chr19 1116072 1116072 G A SBNO2 Synonymous SNV H554H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.988 301261 chr12 30863049 30863049 A G rs752132555 CAPRIN2 Synonymous SNV N723N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 301262 chr19 11533457 11533457 G C rs368922584 CCDC151 Nonsynonymous SNV Q337E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.685 301263 chr19 1465397 1465397 C T rs761876522 APC2 Synonymous SNV P698P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.073 301264 chr3 38049752 38049752 C T rs139342994 PLCD1 Nonsynonymous SNV R691H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 301265 chr19 14772905 14772905 A G ADGRE3 Synonymous SNV Y75Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 301266 chr1 236902618 236902618 G A rs142482143 ACTN2 Nonsynonymous SNV R298H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 301267 chr19 1632364 1632364 G A rs780808881 TCF3 Synonymous SNV G62G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 301268 chr3 44879770 44879770 G C rs148155714 KIF15 Nonsynonymous SNV D1059H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 301269 chr19 17330166 17330166 C T rs369161038 USE1 Synonymous SNV A189A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.32 301270 chr11 55587794 55587794 G A rs139902094 OR5D18 Nonsynonymous SNV R230H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.28 301271 chr12 52093457 52093457 G A rs377606066 SCN8A Synonymous SNV L270L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.154 301272 chr3 48717513 48717513 T C rs529209255 NCKIPSD Synonymous SNV L414L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.742 301273 chr19 19120823 19120823 G C SUGP2 Nonsynonymous SNV L727V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.074 301274 chr3 49292869 49292869 C T rs147344932 CCDC36 Synonymous SNV V193V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 301275 chr12 53344685 53344685 G A rs375823747 KRT18 Nonsynonymous SNV E218K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 301276 chr2 113940759 113940759 G C PSD4 Nonsynonymous SNV E242D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.483 301277 chr3 50402131 50402131 G A rs150832847 CACNA2D2 Nonsynonymous SNV P1135L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.2 301278 chr3 51457917 51457917 T C rs782200796 DCAF1 Nonsynonymous SNV D701G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 301279 chr19 2994074 2994074 C T rs757810781 TLE6 Nonsynonymous SNV A409V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.997 301280 chr2 24345336 24345336 T C rs150056793 PFN4 Nonsynonymous SNV I24V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 301281 chr19 33870504 33870504 A - CEBPG D120Vfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 301282 chr2 25367841 25367841 T C EFR3B Nonsynonymous SNV L653S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 301283 chr2 25384436 25384436 G A rs148090042 POMC Synonymous SNV D106D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.884 301284 chr2 131486729 131486729 G T GPR148 Nonsynonymous SNV G2V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.009 301285 chr12 56575522 56575522 C T SMARCC2 Nonsynonymous SNV R269Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 301286 chr12 57858625 57858625 C T rs150011919 GLI1 Synonymous SNV Y80Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 10.37 301287 chr2 27373128 27373128 C T rs370405355 TCF23 Synonymous SNV L120L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.1 301288 chr2 27535100 27535100 G C rs760281019 MPV17 Synonymous SNV A130A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.4 301289 chr2 149868105 149868105 A G rs375455696 KIF5C Nonsynonymous SNV H930R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 301290 chr3 63817409 63817409 A G rs548087681 C3orf49 Synonymous SNV Q246Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 301291 chr2 29039003 29039003 T C SPDYA Synonymous SNV D41D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.971 301292 chr12 68619456 68619456 G T rs143085237 IL26 Synonymous SNV S27S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.895 301293 chr2 29455276 29455276 G A rs145271283 ALK Synonymous SNV A842A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 12.96 301294 chr12 7064364 7064364 C G rs781875658 PTPN6 Nonsynonymous SNV D189E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 301295 chr12 6833938 6833938 G A rs904143307 COPS7A Nonsynonymous SNV G39D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 301296 chr2 33752299 33752299 C A rs34636269 RASGRP3 Synonymous SNV I301I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.69 301297 chr19 38383434 38383434 G A WDR87 Nonsynonymous SNV T970I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 301298 chr12 7469789 7469789 T C ACSM4 Nonsynonymous SNV I226T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 301299 chr4 10445095 10445095 G A ZNF518B Nonsynonymous SNV S953L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 301300 chr2 171573398 171573398 - GCT rs564174201 SP5 A235_L236insA 0 0 0 1 0 0 0.003 0 0 0 0 0 301301 chr19 4054728 4054728 G A ZBTB7A Nonsynonymous SNV P168L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 301302 chr2 48809436 48809436 - GTCATC rs758818068 STON1, STON1-GTF2A1L S557_Y558insSS 0 0.003 0 0 0 1 0 0 0 0 0 0 301303 chr11 94759413 94759413 T C KDM4E Nonsynonymous SNV I231T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 301304 chr4 115754868 115754868 G T NDST4 Nonsynonymous SNV L764I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 301305 chr4 119252968 119252968 G A rs746877243 PRSS12 Nonsynonymous SNV R292W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301306 chr19 42224938 42224938 C T rs782110730 CEACAM5 Nonsynonymous SNV P623L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 301307 chr4 126412885 126412885 C G rs753225272 FAT4 Nonsynonymous SNV P4971A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 301308 chr11 61608150 61608150 C A rs773397504 FADS2 Nonsynonymous SNV P169T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.57 301309 chr2 74466548 74466548 G A rs765290549 SLC4A5 Nonsynonymous SNV L745F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 301310 chr11 62490135 62490135 T C rs771996255 HNRNPUL2 Nonsynonymous SNV N345D 0 0 0 2 0 0 0.005 0 0 0 0 0 15.17 301311 chr4 144620280 144620280 T C FREM3 Nonsynonymous SNV I517V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.024 301312 chr14 21556239 21556239 C T ARHGEF40 Synonymous SNV I738I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 301313 chr11 62995999 62995999 A G SLC22A25 Nonsynonymous SNV V147A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.07 301314 chr2 85839021 85839021 G A rs370522883 C2orf68 Synonymous SNV I29I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.284 301315 chr2 85889225 85889225 T A rs143687195 SFTPB Nonsynonymous SNV Q337L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.03 301316 chr2 86297307 86297307 C T rs753139894 POLR1A Nonsynonymous SNV R567H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 301317 chr19 46027855 46027855 T A rs369523123 VASP Synonymous SNV T328T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.962 301318 chr14 23549165 23549165 A T rs150892575 ACIN1 Nonsynonymous SNV L478H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 301319 chr2 97215810 97215810 G A rs777084398 ARID5A Synonymous SNV P120P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.582 301320 chr2 204255803 204255803 C T rs139291552 ABI2 Nonsynonymous SNV P166L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23 301321 chr19 48219952 48219952 T C EHD2 Nonsynonymous SNV L28P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 301322 chr14 30046465 30046465 A C rs139896732 PRKD1 Synonymous SNV G906G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.006 301323 chr19 49143402 49143402 C T CA11 Nonsynonymous SNV D141N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 301324 chr4 17827112 17827112 A C NCAPG Synonymous SNV A527A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.425 301325 chr13 36828216 36828216 T G rs913591335 CCDC169, CCDC169-SOHLH2 Nonsynonymous SNV K27T 0.002 0 0 0 2 0 0 0 0 0 0 0 29.1 301326 chr13 37014197 37014197 A G rs928105467 CCNA1 Synonymous SNV L324L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.081 301327 chr11 66617859 66617859 G A rs61749179 PC Synonymous SNV C850C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.508 301328 chr19 50335348 50335348 C T rs370255278 MIR6800 0 0 0.003 0 0 0 0 1 0 0 0 0 3.736 301329 chr2 121746231 121746231 G A rs886054813 GLI2 Nonsynonymous SNV R772Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27 301330 chr19 50549260 50549260 C T rs376386436 ZNF473 Synonymous SNV C508C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 301331 chr4 187630401 187630401 A G rs765339347 FAT1 Nonsynonymous SNV M194T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 301332 chr19 51022136 51022136 C A rs558242111 LRRC4B Synonymous SNV S278S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 301333 chr11 68549295 68549295 C T rs756320661 CPT1A Synonymous SNV P432P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.44 301334 chr2 138759653 138759653 G A rs565549519 HNMT Synonymous SNV S106S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.73 301335 chr12 2062024 2062024 C A DCP1B Nonsynonymous SNV S361I 0.001 0 0 0 1 0 0 0 0 0 0 0 22 301336 chr2 152553662 152553662 G A rs778189876 NEB Synonymous SNV D490D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.98 301337 chr4 40434858 40434858 G A rs761371358 RBM47 Nonsynonymous SNV A382V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 301338 chr4 47556752 47556752 G A rs187144508 ATP10D Nonsynonymous SNV V549M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 301339 chr2 166172133 166172133 A G rs201680546 SCN2A Synonymous SNV E512E 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.554 301340 chr19 53716282 53716282 C T rs200097405 ZNF818P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.624 301341 chr19 54844995 54844995 T C rs145347520 LILRA4 Nonsynonymous SNV M450V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.5 301342 chr11 802774 802774 C T rs377495061 PIDD1 Nonsynonymous SNV R276Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 301343 chr19 5587960 5587960 G A rs1014008057 SAFB2 Nonsynonymous SNV R853W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 301344 chr4 74308124 74308124 A C rs35924362 AFP Synonymous SNV A198A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.641 301345 chr11 93796676 93796676 G C HEPHL1 Nonsynonymous SNV A140P 0 0 0 2 0 0 0.005 0 0 0 0 0 30 301346 chr3 4810304 4810304 C T rs201949292 ITPR1 Synonymous SNV D1882D 0 0 0 1 0 0 0.003 0 0 0 0 0 13.41 301347 chr19 57327731 57327731 G A PEG3 Synonymous SNV A538A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.687 301348 chr4 7994594 7994594 C T rs201611635 ABLIM2 Nonsynonymous SNV R261Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 301349 chr3 9802401 9802401 T C CAMK1 Synonymous SNV E228E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.008 301350 chr3 9831246 9831246 G A rs201406757 TADA3 Nonsynonymous SNV R171C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 301351 chr4 84205762 84205762 G C COQ2 Synonymous SNV R52R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 301352 chr12 104157339 104157339 G A STAB2 Nonsynonymous SNV E2520K 0 0 0 2 0 0 0.005 0 0 0 0 0 25.4 301353 chr12 1036400 1036400 A G rs574739629 RAD52 Synonymous SNV Y49Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 301354 chr4 95220779 95220779 A G rs146652732 HPGDS Nonsynonymous SNV F151S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 301355 chr19 7684652 7684657 CTCGTC - rs570282562 XAB2 D828_E829del 0 0 0.003 0 0 0 0 1 0 0 0 0 301356 chr19 8145933 8145933 G A FBN3 Synonymous SNV T2469T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.471 301357 chr5 118485587 118485587 G T DMXL1 Synonymous SNV G1355G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.486 301358 chr5 130815343 130815343 C A rs114886003 RAPGEF6 Synonymous SNV V648V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.28 301359 chr5 131142947 131142947 G T MEIKIN Synonymous SNV I368I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 301360 chr5 131302170 131302170 G A rs115302912 ACSL6 Nonsynonymous SNV T451M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 301361 chr5 137426418 137426418 G A rs192905019 WNT8A Nonsynonymous SNV A256T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 301362 chr19 9074770 9074770 C G rs200407588 MUC16 Nonsynonymous SNV G4226R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.701 301363 chr14 60587934 60587934 C T rs137946701 PCNX4 Nonsynonymous SNV H421Y 0.003 0 0 0 3 0 0 0 0 0 0 0 28.3 301364 chr5 139221912 139221912 A G rs747219875 PSD2 Synonymous SNV S723S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.08 301365 chr12 121867936 121867936 G - KDM2B R1261Vfs*17 0 0.003 0 0 0 1 0 0 0 0 0 0 301366 chr5 140515092 140515092 G A rs372519006 PCDHB5 Nonsynonymous SNV A26T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 301367 chr5 141243505 141243505 G A rs774616933 PCDH1 Synonymous SNV R418R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.711 301368 chr5 146460682 146460682 G C rs779852244 PPP2R2B Nonsynonymous SNV Q10E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.253 301369 chr12 14634008 14634008 C G rs745504101 ATF7IP Nonsynonymous SNV P1056A 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 301370 chr1 110921488 110921488 A G rs778218247 SLC16A4 Synonymous SNV L229L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 301371 chr12 82070607 82070607 G C rs200925492 PPFIA2 Nonsynonymous SNV T89R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 301372 chr2 233323380 233323380 A G ALPI Nonsynonymous SNV T408A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 301373 chr12 9002268 9002268 G T rs148198269 A2ML1 Nonsynonymous SNV V187L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.018 301374 chr12 21032478 21032478 C A rs369045586 SLCO1B3, SLCO1B3-SLCO1B7 Stop gain S387X 0.001 0 0 2 1 0 0.005 0 0 0 0 0 34 301375 chr1 114514619 114514619 G A rs150942801 HIPK1 Nonsynonymous SNV V1063I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 301376 chr1 115428861 115428861 C T rs199876684 SYCP1 Nonsynonymous SNV S374L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 301377 chr14 81302660 81302660 G A rs537694454 CEP128 Nonsynonymous SNV L316F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 301378 chr12 2973849 2973849 G T rs140482241 FOXM1 Synonymous SNV R349R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 14.56 301379 chr14 92470255 92470255 T C TRIP11 Synonymous SNV S1354S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 301380 chr1 120438955 120438955 C T rs766323681 ADAM30 Nonsynonymous SNV R2K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 301381 chr14 95923536 95923536 G C SYNE3 Nonsynonymous SNV T256R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.936 301382 chr12 271129 271129 G C rs377679440 IQSEC3 Synonymous SNV V524V 0 0.003 0 0 0 1 0 0 0 0 0 0 8.733 301383 chr5 177642337 177642337 C T rs144733617 PHYKPL Nonsynonymous SNV S300N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.103 301384 chr12 48185743 48185743 C T rs139966547 HDAC7 Nonsynonymous SNV G538S 0 0 0 2 0 0 0.005 0 0 0 0 0 27.4 301385 chr15 25926003 25926003 G A rs150499946 ATP10A Nonsynonymous SNV A1211V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 301386 chr3 9412984 9412984 C A THUMPD3 Nonsynonymous SNV P191T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.77 301387 chr12 49949485 49949485 C T rs560243803 KCNH3 Nonsynonymous SNV T680M 0 0 0 2 0 0 0.005 0 0 0 0 0 18.07 301388 chr12 4705809 4705809 G A rs773956786 DYRK4 Synonymous SNV K158K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 301389 chr3 9956238 9956238 C T IL17RE Nonsynonymous SNV R319W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 301390 chr1 156247797 156247797 C T rs755092025 SMG5 Synonymous SNV V72V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 301391 chr5 37227834 37227834 T C CPLANE1 Nonsynonymous SNV I403V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 301392 chr5 38370541 38370541 C A EGFLAM Nonsynonymous SNV P230H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 301393 chr1 156902254 156902254 G A rs367820195 LRRC71 Nonsynonymous SNV A494T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 301394 chr12 53187893 53187893 A G rs761093423 KRT3 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 301395 chr3 124449328 124449328 G C rs201130807 UMPS Nonsynonymous SNV A4P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.836 301396 chr5 61875899 61875899 G A LRRC70 Nonsynonymous SNV G212R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 301397 chr3 37034488 37034488 C T rs374715417 EPM2AIP1 Synonymous SNV L27L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.316 301398 chr3 124732212 124732212 G T rs202031121 HEG1 Synonymous SNV T737T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.339 301399 chr12 5724461 5724461 C T rs184602163 ANO2 Nonsynonymous SNV V607I 0 0 0 2 0 0 0.005 0 0 0 0 0 17.48 301400 chr12 57351086 57351086 A G RDH16 Nonsynonymous SNV L54S 0 0 0 3 0 0 0.008 0 0 0 0 1 24.6 301401 chr12 57579581 57579581 G A rs369821399 LRP1 Nonsynonymous SNV R2244Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 23.7 301402 chr3 40453386 40453386 G T rs778585189 ENTPD3 Nonsynonymous SNV V124F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 301403 chr12 54379480 54379480 C T rs761460402 HOXC10 Nonsynonymous SNV P146L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 29.3 301404 chr12 54379512 54379512 G T rs758937122 HOXC10 Nonsynonymous SNV A157S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.09 301405 chr12 54917262 54917262 G C rs761653758 NCKAP1L Nonsynonymous SNV E605Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 301406 chr15 52553183 52553183 C T rs374189950 MYO5C Nonsynonymous SNV A397T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 301407 chr12 56604349 56604349 G A rs138861137 RNF41 Nonsynonymous SNV P32S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 301408 chr15 64010857 64010857 A G HERC1 Synonymous SNV R1298R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.794 301409 chr15 65477470 65477470 T C rs751757923 CLPX Nonsynonymous SNV T8A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 301410 chr12 68043620 68043620 G T DYRK2 Synonymous SNV P31P 0 0 0 2 0 0 0.005 0 0 0 0 0 6.803 301411 chr12 68619022 68619022 C A rs199583345 IL26 Nonsynonymous SNV M90I 0 0 0 2 0 0 0.005 0 0 0 0 0 19.37 301412 chr15 65688262 65688262 T G IGDCC4 Nonsynonymous SNV M413L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 301413 chr3 46621528 46621528 T G rs763661306 TDGF1 Synonymous SNV P126P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.37 301414 chr3 150416658 150416658 C T rs113419449 ERICH6 Nonsynonymous SNV R12H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.28 301415 chr12 57920859 57920859 G A rs367729881 MBD6 Nonsynonymous SNV G644E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.08 301416 chr5 90086766 90086766 A T ADGRV1 Nonsynonymous SNV D4707V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 301417 chr3 49569982 49569982 C T rs775023091 DAG1 Nonsynonymous SNV R680W 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 301418 chr1 186099130 186099130 C G HMCN1 Nonsynonymous SNV L4313V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 301419 chr3 51733497 51733497 C T rs148617571 TEX264 Nonsynonymous SNV R112W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 301420 chr12 85674254 85674254 A G ALX1 Nonsynonymous SNV Q72R 0 0 0 2 0 0 0.005 0 0 0 0 0 15.68 301421 chr1 197070711 197070711 G C rs78215018 ASPM Nonsynonymous SNV S2557C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 301422 chr3 52964429 52964429 G A SFMBT1 Synonymous SNV G271G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.66 301423 chr3 53263415 53263415 G A rs782171909 TKT Nonsynonymous SNV T382M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 301424 chr1 200817486 200817486 T C rs762902322 CAMSAP2 Nonsynonymous SNV L514P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.71 301425 chr12 91545483 91545483 T C DCN Nonsynonymous SNV N131S 0 0 0 2 0 0 0.005 0 0 0 0 0 18.28 301426 chr3 64133075 64133075 C T rs372367565 PRICKLE2 Nonsynonymous SNV R364Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.2 301427 chr3 69073223 69073223 G A rs185749329 TMF1 Nonsynonymous SNV L1044F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 301428 chr12 99043420 99043420 G C rs766220748 APAF1 Nonsynonymous SNV V151L 0 0 0 2 0 0 0.005 0 0 0 0 0 28.5 301429 chr3 97634561 97634561 C T rs777668950 CRYBG3 Nonsynonymous SNV S2741F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 301430 chr1 208061241 208061241 C T rs750812013 CD34 Nonsynonymous SNV G334S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 301431 chr6 134142746 134142746 G A LINC01312 0 0 0.003 0 0 0 0 1 0 0 0 0 3.232 301432 chr3 100084536 100084536 T C rs771387846 TOMM70 Nonsynonymous SNV M567V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.48 301433 chr15 85401457 85401457 C T rs755941827 ALPK3 Nonsynonymous SNV A1163V 0.003 0 0 0 3 0 0 0 0 0 0 0 33 301434 chr1 22156543 22156543 C T HSPG2 Nonsynonymous SNV G3906S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301435 chr3 112729520 112729520 G C NEPRO Nonsynonymous SNV F148L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.12 301436 chr6 153296564 153296564 G A rs150735379 FBXO5 Nonsynonymous SNV P53L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 301437 chr1 223286039 223286039 G C rs374080914 TLR5 Nonsynonymous SNV P112R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.23 301438 chr1 223991019 223991019 T C rs750448311 TP53BP2 Nonsynonymous SNV N262S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 301439 chr6 159653891 159653891 G C rs146014542 FNDC1 Nonsynonymous SNV A783P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.555 301440 chr3 121204024 121204024 T G rs757793630 POLQ Synonymous SNV S1879S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.072 301441 chr6 160887989 160887989 G A rs111544537 LPAL2 0 0 0.003 0 0 0 0 1 0 0 0 0 7.942 301442 chr6 160932112 160932112 C G rs73784249 LPAL2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.123 301443 chr16 10788469 10788469 G A rs138237208 TEKT5 Nonsynonymous SNV R88C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 301444 chr13 25887028 25887028 A C rs772288768 NUP58 Synonymous SNV P86P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.015 301445 chr13 45768219 45768219 G A KCTD4 Nonsynonymous SNV P162S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.603 301446 chr13 46148995 46148995 C T rs985447983 ERICH6B Synonymous SNV V344V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.6 301447 chr3 126747903 126747903 C T rs369457038 PLXNA1 Synonymous SNV N1579N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 301448 chr3 128618274 128618274 G A rs199504238 ACAD9 Nonsynonymous SNV E260K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 301449 chr6 24437437 24437437 C T rs565249214 GPLD1 Nonsynonymous SNV A701T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 301450 chr3 129007715 129007715 C T rs555534959 HMCES Nonsynonymous SNV R68C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 301451 chr6 24578370 24578370 C G KIAA0319 Nonsynonymous SNV L446F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 301452 chr1 236744601 236744601 T C rs138150951 HEATR1 Synonymous SNV Q892Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.414 301453 chr13 33704030 33704030 G A rs145202504 STARD13 Nonsynonymous SNV R254C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.7 301454 chr16 16208679 16208679 C T rs376107020 ABCC1 Nonsynonymous SNV R1046C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 301455 chr1 236925775 236925775 G A rs374278766 ACTN2 Synonymous SNV A847A 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 13.78 301456 chr4 24541918 24541918 A G rs139327915 DHX15 Synonymous SNV P533P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.469 301457 chr1 241798011 241798011 G C CHML Nonsynonymous SNV T353R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 301458 chr1 241938429 241938429 T C WDR64 Nonsynonymous SNV L818P 0 0 0.003 0 0 0 0 1 0 0 0 0 26 301459 chr13 77672926 77672926 A G rs116957494 MYCBP2 Nonsynonymous SNV L2788S 0 0.003 0 2 0 1 0.005 0 0 0 0 0 Likely benign 2.289 301460 chr13 42273286 42273286 T C VWA8 Nonsynonymous SNV N1162S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.109 301461 chr14 77493477 77493479 GAA - rs746345568 IRF2BPL S220del 0.001 0 0 0 1 0 0 0 0 0 0 0 301462 chr3 139062910 139062910 G A rs749327356 MRPS22 Synonymous SNV L14L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.341 301463 chr3 139062911 139062911 A G rs771077408 MRPS22 Nonsynonymous SNV R15G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.97 301464 chr4 39219612 39219612 G A rs539621646 WDR19 Nonsynonymous SNV E296K 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 20.8 301465 chr16 24196838 24196838 G A rs368238909 PRKCB Nonsynonymous SNV V558I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 301466 chr4 40122377 40122377 G A rs78767806 N4BP2 Nonsynonymous SNV M882I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.386 301467 chr3 142762061 142762061 G A rs372739578 U2SURP Synonymous SNV K420K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.95 301468 chr16 23200787 23200787 G A rs267604464 SCNN1G Nonsynonymous SNV R138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 301469 chr6 33561076 33561076 C T LINC00336 0 0 0.003 0 0 0 0 1 0 0 0 0 7.139 301470 chr3 151164784 151164784 C T rs910656662 IGSF10 Synonymous SNV P995P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.125 301471 chr1 248202123 248202123 C T rs138290082 OR2L2 Nonsynonymous SNV T185M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 301472 chr6 35261534 35261534 C G rs150551096 ZNF76 Nonsynonymous SNV L446V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 301473 chr3 170843759 170843759 C T rs367614585 TNIK Nonsynonymous SNV R568H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 301474 chr16 3078703 3078703 G C rs200160527 BICDL2 Nonsynonymous SNV N412K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 301475 chr3 178968727 178968727 G A rs751928318 KCNMB3 Stop gain Q18X 0 0.003 0 0 0 1 0 0 0 0 0 0 9.636 301476 chr15 23086367 23086367 - GCCGCC NIPA1 A16_G17insAA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 301477 chr15 23811384 23811384 C T rs780006913 MKRN3 Nonsynonymous SNV P152L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.665 301478 chr1 27682169 27682169 G A rs776410380 MAP3K6 Nonsynonymous SNV T1252I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 301479 chr16 31342994 31342994 G A ITGAM Nonsynonymous SNV S1142N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.887 301480 chr15 28261270 28261270 C T OCA2 Synonymous SNV R290R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 301481 chr14 105268403 105268403 G A ZBTB42 Nonsynonymous SNV G290D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.024 301482 chr1 29379777 29379777 G T rs752707932 EPB41 Nonsynonymous SNV D565Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 301483 chr14 105995466 105995470 GCGGC - rs782251954 TMEM121 A104Gfs*210 0.001 0.003 0 0 1 1 0 0 0 0 0 0 301484 chr1 33236078 33236078 C T KIAA1522 Nonsynonymous SNV S374F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 301485 chr6 43573049 43573049 G A rs560145056 POLH Nonsynonymous SNV R232Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 301486 chr6 44223097 44223097 G A rs182428561 SLC35B2 Synonymous SNV A82A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.16 301487 chr14 23243191 23243191 G C rs139415285 SLC7A7 Nonsynonymous SNV I460M 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.94 301488 chr16 57054821 57054821 C T rs765035595 NLRC5 Nonsynonymous SNV S66L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 301489 chr1 39788608 39788608 G A rs147033221 MACF1 Synonymous SNV T1393T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 301490 chr14 23816810 23816810 C T SLC22A17 Nonsynonymous SNV V141M 0 0 0 2 0 0 0.005 0 0 0 0 0 31 301491 chr1 40701861 40701861 G T rs140504973 RLF Nonsynonymous SNV G496V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 301492 chr6 7231479 7231479 C T rs757905525 RREB1 Synonymous SNV P1049P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 301493 chr1 44466881 44466881 G A rs137855830 SLC6A9 Synonymous SNV G365G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.659 301494 chr14 31917340 31917340 A T rs145706913 DTD2 Nonsynonymous SNV F168I 0 0.003 0 2 0 1 0.005 0 0 0 0 0 27.1 301495 chr4 1165820 1165820 G A rs771907591 SPON2 Nonsynonymous SNV L14F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.22 301496 chr1 45974469 45974469 G A rs768230660 MMACHC Nonsynonymous SNV R87H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 301497 chr6 7845463 7845463 C T rs555458296 BMP6 Nonsynonymous SNV T252M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301498 chr6 80020684 80020684 A G rs186565199 LCAL1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.353 301499 chr16 72821621 72821621 G A rs566462936 ZFHX3 Synonymous SNV G2604G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.187 301500 chr16 72829630 72829630 A G rs12599442 ZFHX3 Synonymous SNV N1403N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.007 301501 chr16 72831652 72831652 G A rs2229290 ZFHX3 Synonymous SNV S729S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.019 301502 chr1 52255309 52255309 G A rs776778112 NRDC Synonymous SNV F1063F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 301503 chr1 52385674 52385674 C T rs780152564 RAB3B Synonymous SNV P195P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.6 301504 chr1 52826724 52826724 A C rs41311156 CC2D1B Synonymous SNV S133S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.03 301505 chr1 53535509 53535509 G A rs371698786 PODN Synonymous SNV S42S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.012 301506 chr6 90405501 90405501 G A rs566904897 MDN1 Synonymous SNV L3198L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.74 301507 chr16 71668300 71668300 T G MARVELD3 Nonsynonymous SNV L267R 0.001 0 0 0 1 0 0 0 0 0 0 0 21 301508 chr16 84215969 84215969 G A rs201410237 TAF1C Nonsynonymous SNV A187V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 301509 chr16 84529520 84529520 C A rs751863153 MEAK7 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.8 301510 chr1 64014854 64014854 G A rs868241347 DLEU2L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 301511 chr1 6653659 6653659 G A rs377290952 KLHL21 Synonymous SNV Y520Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.388 301512 chr14 65054068 65054068 C T rs747176239 PPP1R36 Nonsynonymous SNV R290C 0.001 0 0 2 1 0 0.005 0 0 0 0 0 35 301513 chr1 71512233 71512233 C T ZRANB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.21 301514 chr1 82456484 82456484 C T rs200279674 ADGRL2 Synonymous SNV S1289S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 301515 chr4 37848559 37848559 T G PGM2 Nonsynonymous SNV W339G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 301516 chr4 48611771 48611771 G A rs368610662 FRYL Nonsynonymous SNV H161Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 301517 chr1 94546124 94546124 A G rs886044724 ABCA4 Nonsynonymous SNV F337L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.46 301518 chr1 983534 983534 T C rs757467441 AGRN Synonymous SNV V1298V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 301519 chr16 90086507 90086507 T G DBNDD1 Nonsynonymous SNV E7A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.583 301520 chr7 1272716 1272716 G A UNCX Synonymous SNV V21V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 301521 chr17 41605926 41605926 G A rs140975276 ETV4 Synonymous SNV P195P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 301522 chr4 69962549 69962549 C A UGT2B7 Nonsynonymous SNV T104K 0 0.005 0 0 0 2 0 0 0 0 0 0 13.6 301523 chr20 17640658 17640658 C T rs138315161 RRBP1 Synonymous SNV S165S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.199 301524 chr5 26889986 26889986 A G CDH9 Nonsynonymous SNV Y491H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.67 301525 chr15 101816795 101816795 C A rs573592518 SELENOS Synonymous SNV R54R 0 0 0 2 0 0 0.005 0 0 0 0 0 14.57 301526 chr20 25257941 25257941 G A rs144081143 PYGB Synonymous SNV R278R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 301527 chr4 87653801 87653801 C T rs774699023 PTPN13 Synonymous SNV N580N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.322 301528 chr17 21208417 21208417 G A rs150613942 MAP2K3 Nonsynonymous SNV V222I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Likely benign 22.5 301529 chr4 89061071 89061071 T C rs373683219 ABCG2 Nonsynonymous SNV N26S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 301530 chr7 143085905 143085905 C T rs544381844 ZYX Nonsynonymous SNV R423C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 301531 chr7 143771859 143771859 G T rs200681773 OR2A25 Nonsynonymous SNV V183F 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 20 301532 chr5 53814094 53814094 - CAGGCGCTGCTGCAGCCACAG SNX18 A113_P114insLLQPQQA 0 0 0 1 0 0 0.003 0 0 0 0 0 301533 chr7 149485693 149485693 T C rs749999885 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 9.472 301534 chr20 33762696 33762696 T C rs150846093 PROCR Nonsynonymous SNV S88P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 301535 chr4 100515985 100515985 C T rs566965111 MTTP Nonsynonymous SNV T312M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.228 301536 chr7 151046322 151046322 A G rs894307371 NUB1 Nonsynonymous SNV K118R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 301537 chr17 33289438 33289438 A G rs374059343 ZNF830 Nonsynonymous SNV N285D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 301538 chr4 113508810 113508810 C A rs115796795 ZGRF1 Nonsynonymous SNV V1077F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 301539 chr16 22385630 22385630 T C CDR2 Star tloss M1? 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.4 301540 chr15 41228705 41228705 A G DLL4 Nonsynonymous SNV N507S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.481 301541 chr7 157208773 157208773 C T rs142974468 DNAJB6 Nonsynonymous SNV S206L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 301542 chr17 32684525 32684525 C T rs778969931 CCL13 Synonymous SNV F36F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.888 301543 chr15 41859735 41859735 - CCCCAGCCAGCGCTCCCCAAAACCTCCAT TYRO3 Frameshift insertion A286Pfs*25 0 0.003 0 0 0 1 0 0 0 0 0 0 301544 chr7 17379427 17379427 G A rs146989897 AHR Nonsynonymous SNV V660M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.288 301545 chr16 24931507 24931507 C T rs368716312 ARHGAP17 Nonsynonymous SNV V786M 0.002 0 0 0 2 0 0 0 0 0 0 0 17.19 301546 chr17 62512919 62512919 C A CEP95 Stop gain S149X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 301547 chr20 47888111 47888111 C T rs756489986 ZNFX1 Nonsynonymous SNV G80R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.035 301548 chr7 24892134 24892134 C T rs34702159 OSBPL3 Nonsynonymous SNV A352T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.24 301549 chr7 2611888 2611888 G - rs746153884 IQCE G43Afs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 301550 chr4 147561067 147561067 G T POU4F2 Nonsynonymous SNV A113S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 301551 chr7 30537355 30537355 A G rs200273357 GGCT 0 0 0.003 1 0 0 0.003 1 0 0 0 0 4.519 301552 chr20 6033377 6033379 CTC - rs776601085 LRRN4 E23del 0 0 0.003 0 0 0 0 1 0 0 0 0 301553 chr16 3558307 3558307 A C CLUAP1 Nonsynonymous SNV K80Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 301554 chr7 40174616 40174616 - GCGATGCTG rs770115260 SUGCT A10_T11insMLA 0 0 0.003 0 0 0 0 1 0 0 0 0 301555 chr20 62168602 62168602 C - rs750079248 PTK6 T23Rfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 301556 chr16 4937212 4937212 G A PPL Nonsynonymous SNV A844V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 301557 chr7 45121745 45121745 G C rs570388829 NACAD Nonsynonymous SNV A1345G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 301558 chr20 62200715 62200715 C T HELZ2 Nonsynonymous SNV E292K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 301559 chr20 62290832 62290832 C T rs773115541 RTEL1 Nonsynonymous SNV T26I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.82 301560 chr15 73616142 73616142 A C HCN4 Synonymous SNV S764S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.012 301561 chr20 744206 744206 C T rs139542858 SLC52A3 Nonsynonymous SNV A337T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.9 301562 chr17 40948047 40948047 C T WNK4 Stop gain Q807X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 301563 chr15 75248668 75248668 C A RPP25 Nonsynonymous SNV R86L 0 0 0 2 0 0 0.005 0 0 0 0 0 35 301564 chr15 75648307 75648307 G A rs778267823 MAN2C1 Synonymous SNV L922L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.13 301565 chr4 187113054 187113054 G A CYP4V2 Nonsynonymous SNV G26D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 301566 chr17 74621573 74621573 G A rs148549229 ST6GALNAC1 Nonsynonymous SNV R548C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 301567 chr17 41055964 41055964 C T rs1801175 G6PC Nonsynonymous SNV R83C 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 35 301568 chr17 41352355 41352355 T A rs769702832 NBR1 Nonsynonymous SNV I712N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 301569 chr17 4713250 4713250 C T PLD2 Synonymous SNV D262D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 301570 chr17 43138796 43138796 C T rs762294220 NMT1 Synonymous SNV C33C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.59 301571 chr7 84751124 84751124 G A rs907946637 SEMA3D Synonymous SNV T28T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.776 301572 chr17 5118261 5118261 G A rs749689759 SCIMP Nonsynonymous SNV P74L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 301573 chr17 47489162 47489162 C A rs2233665 PHB Nonsynonymous SNV R43L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 301574 chr7 92143202 92143202 T A PEX1 Nonsynonymous SNV K440I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 301575 chr21 46951908 46951908 G C SLC19A1 Nonsynonymous SNV S75W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 301576 chr8 103251007 103251007 G A rs201028777 RRM2B Nonsynonymous SNV P15L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.06 301577 chr22 18300750 18300750 C T rs370464455 MICAL3 Synonymous SNV P1559P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.777 301578 chr8 10464616 10464616 G A rs147334256 RP1L1 Nonsynonymous SNV T2331M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.738 301579 chr5 149753944 149753944 C T TCOF1 Nonsynonymous SNV L283F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.11 301580 chr22 21153435 21153435 G A rs753638207 PI4KA Synonymous SNV S628S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 301581 chr17 53471771 53471771 G A MMD Nonsynonymous SNV T214M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 301582 chr16 11650561 11650561 G A rs529766640 LITAF Nonsynonymous SNV A9V 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 17.16 301583 chr8 118170045 118170045 G A rs775084835 SLC30A8 Nonsynonymous SNV M178I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 301584 chr16 10867917 10867917 G A rs943998278 TVP23A Synonymous SNV H101H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.15 301585 chr5 70806918 70806918 C T rs376825112 BDP1 Synonymous SNV D1333D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.019 301586 chr16 14340758 14340758 A G MRTFB Synonymous SNV T536T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.009 301587 chr16 1270673 1270673 G A rs373830807 CACNA1H Synonymous SNV K2241K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.565 301588 chr17 708441 708441 C T rs143840961 NXN Synonymous SNV T181T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 301589 chr22 31533946 31533946 G A PLA2G3 Synonymous SNV R272R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 301590 chr16 16284104 16284104 G A rs72650700 ABCC6 Stop gain R518X 0 0 0 2 0 0 0.005 0 0 0 0 0 Pathogenic 36 301591 chr5 162909627 162909627 - A HMMR-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 301592 chr17 71380071 71380071 C T rs778978606 SDK2 Nonsynonymous SNV R1550K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 301593 chr22 32241123 32241123 G A rs762596342 DEPDC5 Nonsynonymous SNV R896H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 301594 chr8 133913747 133913747 G A rs138469414 TG Nonsynonymous SNV G1195R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 301595 chr16 16184374 16184374 G A rs753999875 ABCC1 Nonsynonymous SNV R858Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.49 301596 chr8 142190916 142190916 G A rs140640013 DENND3 Synonymous SNV A969A 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.534 301597 chr17 6927012 6927012 G A BCL6B Nonsynonymous SNV E8K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 301598 chr17 73686804 73686804 A G rs768482815 SAP30BP Synonymous SNV P106P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.469 301599 chr16 2222368 2222368 G A rs768623972 TRAF7 Nonsynonymous SNV A218T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 17.13 301600 chr5 96124251 96124251 G A rs778847888 ERAP1 Synonymous SNV D554D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.05 301601 chr16 24800822 24800822 A G rs149360617 TNRC6A Nonsynonymous SNV T287A 0 0 0 2 0 0 0.005 0 0 0 0 0 2.329 301602 chr16 23160421 23160421 - GAGGAGGGCGAGGAGGGC USP31 S57_A58insPSSPSS 0 0.003 0 0 0 1 0 0 0 0 0 0 301603 chr5 121188323 121188323 A T rs200848379 FTMT Nonsynonymous SNV D222V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.89 301604 chr5 122495236 122495236 G A rs202224762 PRDM6 Nonsynonymous SNV D353N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 301605 chr5 125936655 125936655 A G PHAX Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 301606 chr16 30939800 30939800 C T FBXL19 Stop gain R234X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 301607 chr8 1851569 1851569 T C rs765366724 ARHGEF10 Synonymous SNV C553C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 301608 chr17 17700295 17700295 G C RAI1 Nonsynonymous SNV A1345P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 301609 chr5 139907810 139907810 A G rs3752704 ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV N1760S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.34 301610 chr16 4016607 4016607 G A rs201960916 ADCY9 Synonymous SNV G1077G 0.001 0 0 2 1 0 0.005 0 0 0 0 0 2.411 301611 chr2 112847277 112847277 C T rs374173740 TMEM87B Synonymous SNV G338G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 301612 chr2 113514663 113514663 T C rs766826583 CKAP2L Synonymous SNV P95P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.53 301613 chr16 4606754 4606754 C T rs79620244 C16orf96 Synonymous SNV L88L 0 0 0 2 0 0 0.005 0 0 0 0 0 10.89 301614 chr6 33632922 33632922 C T rs138821995 ITPR3 Synonymous SNV D447D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.352 301615 chr2 120388436 120388436 G T rs761656123 CFAP221 Nonsynonymous SNV A645S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 301616 chr5 140711530 140711530 C T rs373507218 PCDHGA1 Stop gain Q427X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 301617 chr16 53190850 53190850 A G CHD9 Synonymous SNV P283P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.279 301618 chr16 5046890 5046890 G A rs778975405 SEC14L5 Nonsynonymous SNV R272Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 34 301619 chr2 128393453 128393453 C A rs181858311 MYO7B Nonsynonymous SNV R1967S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 301620 chr5 140789657 140789657 C A rs369832481 PCDHGB6 Synonymous SNV R630R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.414 301621 chr6 36507979 36507979 T C rs758141173 STK38 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 301622 chr8 38677330 38677330 G A rs760101311 TACC1 Nonsynonymous SNV A190T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.619 301623 chr19 13318675 13318675 - CTG CACNA1A Q2325_A2326insQ 0.001 0.003 0 0 1 1 0 0 0 0 0 0 301624 chr8 51705331 51705331 C G SNTG1 Nonsynonymous SNV A462G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 301625 chr17 26726704 26726704 G A rs370669989 SLC46A1 Nonsynonymous SNV L422F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.857 301626 chr8 54793613 54793613 C T rs773503358 RGS20 Nonsynonymous SNV S13F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 301627 chr5 146258291 146258299 GCTGCTGCT - PPP2R2B S17_S19del 0 0.003 0 0 0 1 0 0 0 0 0 0 301628 chr8 72877722 72877722 C G rs59481685 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.491 301629 chr8 87226745 87226745 A G SLC7A13 Nonsynonymous SNV I437T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.783 301630 chr17 34264837 34264837 A G rs762383913 LYZL6 Nonsynonymous SNV F75L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 301631 chr19 1623957 1623957 G C rs769083653 TCF3 Nonsynonymous SNV P181R 0.001 0 0 0 1 0 0 0 0 0 0 0 21 301632 chr8 94402773 94402773 T G LINC00535 0 0 0.003 0 0 0 0 1 0 0 0 0 5.574 301633 chr8 94747836 94747836 G C rs781223536 RBM12B Nonsynonymous SNV S268C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 301634 chr18 18588090 18588090 C T rs757720271 ROCK1 Synonymous SNV Q492Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.85 301635 chr18 19752073 19752081 ACCACCACC - rs963001157 GATA6 H331_H333del 0.001 0 0 0 1 0 0 0 0 0 0 0 301636 chr5 159776311 159776311 A G rs200425949 C1QTNF2 Nonsynonymous SNV L241P 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 301637 chr9 100773578 100773578 C T rs35618988 ANP32B Synonymous SNV D181D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.63 301638 chr18 5394715 5394715 C G EPB41L3 Nonsynonymous SNV E855D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301639 chr9 104189850 104189850 G T ALDOB Nonsynonymous SNV L152M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 301640 chr6 64413526 64413526 A G rs776631385 PHF3 Nonsynonymous SNV Q1023R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.87 301641 chr2 180846713 180846713 C T rs752105910 CWC22 Nonsynonymous SNV R73Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 301642 chr18 34647447 34647447 C G KIAA1328 Nonsynonymous SNV Q283E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 301643 chr5 178459795 178459795 T C ZNF879 Synonymous SNV H282H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.123 301644 chr5 178506931 178506931 G C rs767099340 ZNF354C Nonsynonymous SNV E500Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 301645 chr2 186658317 186658317 G A rs769452900 FSIP2 Nonsynonymous SNV V2152I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 301646 chr9 115648893 115648893 T A rs781595264 SLC46A2 Nonsynonymous SNV K406M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 301647 chr19 2121215 2121215 C T rs186810054 AP3D1 Synonymous SNV K399K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 301648 chr9 116053198 116053198 G A PRPF4 Nonsynonymous SNV S425N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 301649 chr9 116116585 116116585 G A rs373291577 BSPRY Synonymous SNV A89A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.503 301650 chr9 116356293 116356293 C T rs111639946 RGS3 Nonsynonymous SNV R32W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 301651 chr18 46735963 46735964 AA - DYM L527Vfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 301652 chr9 117121909 117121909 C G AKNA Synonymous SNV P700P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.245 301653 chr2 190708718 190708718 C T PMS1 Nonsynonymous SNV S28L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 301654 chr16 8729112 8729112 G A rs577765283 METTL22 Nonsynonymous SNV G215S 0 0 0 2 0 0 0.005 0 0 0 0 0 32 301655 chr2 20205562 20205562 C T rs182164052 MATN3 Nonsynonymous SNV V245M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 301656 chr6 12125486 12125486 C A rs201018915 HIVEP1 Nonsynonymous SNV Q1820K 0 0.005 0 0 0 2 0 0 0 0 0 0 0.998 301657 chr9 130653063 130653063 G A rs920599105 ST6GALNAC6 Nonsynonymous SNV P152L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 301658 chr9 131073214 131073214 T A rs371477371 TRUB2 Nonsynonymous SNV I164L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 301659 chr9 13138127 13138127 G C rs1006506060 MPDZ Synonymous SNV T1310T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.143 301660 chr6 129641720 129641720 C T rs779253125 LAMA2 Nonsynonymous SNV R1366C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 301661 chr6 35715164 35715164 A G rs145501158 ARMC12 Nonsynonymous SNV M191V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.7 301662 chr6 35928633 35928633 T C rs115224596 SLC26A8 Nonsynonymous SNV N437S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.001 301663 chr18 77474771 77474771 G A rs373108713 CTDP1 Synonymous SNV P318P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.303 301664 chr6 36454828 36454828 T C rs74412623 KCTD20 Nonsynonymous SNV V213A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 301665 chr17 17719200 17719200 C G SREBF1 Nonsynonymous SNV S762T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.71 301666 chr2 220404974 220404974 G C rs200369127 CHPF Nonsynonymous SNV L325V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 301667 chr17 17398679 17398679 G C rs766680729 RASD1 Nonsynonymous SNV S202R 0 0 0 2 0 0 0.005 0 0 0 0 0 18.82 301668 chr6 40400193 40400193 G A LRFN2 Synonymous SNV R220R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.466 301669 chr17 18257070 18257070 G A rs572473942 SHMT1 Nonsynonymous SNV S53L 0 0 0 2 0 0 0.005 0 0 0 0 0 34 301670 chr2 225639745 225639745 G A rs779364831 DOCK10 Nonsynonymous SNV R1958W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301671 chr19 15341895 15341895 G A EPHX3 Nonsynonymous SNV S165L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 301672 chr6 43197012 43197012 C T rs759026543 DNPH1 Synonymous SNV E61E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.11 301673 chr17 72889685 72889685 - GTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA FADS6 Frameshift insertion A16Rfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 301674 chr6 160188124 160188124 G C ACAT2 Nonsynonymous SNV G122A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 301675 chr6 160577092 160577092 C T rs562629011 SLC22A1 Stop gain R491X 0 0 0 1 0 0 0.003 0 0 0 0 0 18.37 301676 chr6 161137728 161137728 G A rs142604256 PLG Synonymous SNV E240E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.63 301677 chr19 18420600 18420600 G A rs749456274 LSM4 Synonymous SNV P58P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 301678 chr2 238283544 238283544 G A rs369810455 COL6A3 Nonsynonymous SNV R457W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 301679 chr19 21133078 21133078 A G rs142868740 ZNF85 Nonsynonymous SNV I522M 0.002 0 0 0 2 0 0 0 0 0 0 0 4.604 301680 chr17 33430316 33430316 C T rs28363283 RAD51D Nonsynonymous SNV R120Q 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign/Likely benign 23.2 301681 chr7 1523804 1523804 G A rs377762908 INTS1 Synonymous SNV D1088D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.598 301682 chr6 80982923 80982923 C G BCKDHB Nonsynonymous SNV I341M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 301683 chr6 83880189 83880189 G A PGM3 Synonymous SNV D377D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.258 301684 chr19 15342196 15342196 C T rs763734141 EPHX3 Nonsynonymous SNV R114H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 301685 chr9 35829896 35829896 A G rs921888236 TMEM8B Nonsynonymous SNV Q151R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 301686 chr7 4188897 4188897 G A rs146680650 SDK1 Nonsynonymous SNV R1476Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 301687 chr2 27559250 27559250 G T GTF3C2 Synonymous SNV S390S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 301688 chr17 3854679 3854679 C T rs201218716 ATP2A3 Nonsynonymous SNV R110H 0 0 0 2 0 0 0.005 0 0 0 0 0 32 301689 chr6 110300463 110300463 G A rs756507575 GPR6 Nonsynonymous SNV A50T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 301690 chr6 110726024 110726024 T G rs146710485 DDO Synonymous SNV T137T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.813 301691 chr9 95380904 95380904 G A rs772797476 LOC100128361 0 0 0.003 0 0 0 0 1 0 0 0 0 5.395 301692 chr19 36220873 36220873 C T rs192205094 KMT2B Synonymous SNV C1641C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.7 301693 chr6 114379066 114379066 A G rs753175182 HS3ST5 Synonymous SNV Y132Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 301694 chr19 36591676 36591676 C T rs373906889 WDR62 Synonymous SNV R922R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.991 301695 chr19 37038635 37038635 A G rs755695580 ZNF529 Synonymous SNV V257V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.536 301696 chr2 48687272 48687272 T C PPP1R21 Synonymous SNV C193C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.876 301697 chrX 107310314 107310314 C G rs202139574 VSIG1 Nonsynonymous SNV P121R 0 0 0.007 0 0 0 0 2 0 0 1 0 27.8 301698 chr19 49143480 49143480 G A CA11 Nonsynonymous SNV P115S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 301699 chrX 119243190 119243190 C T rs2301977 RHOXF1 Nonsynonymous SNV R172H 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 4.513 301700 chr19 39207741 39207741 C T rs756003995 ACTN4 Nonsynonymous SNV R310W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 301701 chr19 39401253 39401253 G A CCER2 Stop gain Q221X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 301702 chr2 75899138 75899138 C T rs766589269 GCFC2 Nonsynonymous SNV V463I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 301703 chr17 41246253 41246253 A G rs369394098 BRCA1 Nonsynonymous SNV L385P 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 14.32 301704 chr19 41884364 41884364 G T rs768009290 TMEM91 Synonymous SNV L50L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.093 301705 chrX 48925579 48925579 G A CCDC120 Synonymous SNV A643A 0 0 0.007 0 0 0 0 2 0 0 1 0 6.421 301706 chr17 4439660 4439660 G A rs992178680 SPNS2 Nonsynonymous SNV G516S 0 0 0 2 0 0 0.005 0 0 0 0 0 26.9 301707 chrX 49071987 49071987 T C CACNA1F Nonsynonymous SNV I1085V 0 0 0.007 0 0 0 0 2 0 0 1 0 1.539 301708 chr6 155123225 155123225 G A SCAF8 Nonsynonymous SNV A243T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 25 301709 chr6 158066769 158066769 C T rs551372732 ZDHHC14 Synonymous SNV S251S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.255 301710 chr3 112280316 112280316 G A rs1043497254 ATG3 Synonymous SNV T20T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 301711 chr10 102539322 102539322 G A rs201383632 PAX2 Nonsynonymous SNV A160T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.6 301712 chr10 102849370 102849370 T - rs200664029 TLX1NB 0 0 0.003 0 0 0 0 1 0 0 0 0 301713 chr19 38572281 38572281 C T rs746139052 SIPA1L3 Nonsynonymous SNV L26F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 301714 chr3 114070313 114070313 G A rs748517706 ZBTB20 Synonymous SNV I204I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.037 301715 chr17 48712311 48712311 G A ABCC3 Nonsynonymous SNV C5Y 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 301716 chr19 39367012 39367012 T C RINL Nonsynonymous SNV T57A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 301717 chr19 39691000 39691000 G A rs199985989 NCCRP1 Nonsynonymous SNV R188Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.2 301718 chr10 108589396 108589396 T C rs766941489 SORCS1 Nonsynonymous SNV N221S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 301719 chr7 4089032 4089032 C T SDK1 Synonymous SNV T885T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.09 301720 chr19 4512881 4512979 GTTAGGACAGTCTTGGTGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCT - PLIN4 D335_K367del 0.001 0 0 0 1 0 0 0 0 0 0 0 301721 chr7 6075487 6075488 GT - ANKRD61 C244Hfs*40 0 0.003 0 0 0 1 0 0 0 0 0 0 301722 chr17 57292295 57292295 C G rs141411025 SMG8 Nonsynonymous SNV P970A 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 301723 chr10 118425196 118425196 A G C10orf82 Nonsynonymous SNV L66P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 301724 chr7 12428803 12428803 G C VWDE Nonsynonymous SNV S142C 0 0.003 0 0 0 1 0 0 0 0 0 0 17.32 301725 chr7 12666406 12666406 T C rs192482590 SCIN Synonymous SNV D146D 0 0.005 0 0 0 2 0 0 0 0 0 0 4.569 301726 chr3 129292445 129292445 C T rs78861886 PLXND1 Synonymous SNV V943V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.73 301727 chr3 129305538 129305538 C G rs80349132 PLXND1 Nonsynonymous SNV V505L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.415 301728 chr7 100550582 100550582 T G rs796345426 MUC3A Nonsynonymous SNV V388G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.722 301729 chr7 100550585 100550585 C A rs796728880 MUC3A Nonsynonymous SNV T389N 0 0 0 1 0 0 0.003 0 0 0 0 0 2.173 301730 chr10 129897500 129897501 AC - rs932976165 MKI67 V2882Qfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 301731 chr19 13220427 13220427 G A rs201525408 TRMT1 Synonymous SNV S387S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.186 301732 chr18 6912086 6912086 A G rs755508220 ARHGAP28 Nonsynonymous SNV Y549C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 301733 chr3 151165871 151165871 A T rs748469004 IGSF10 Stop gain L633X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 301734 chr19 49564703 49564703 G C rs147294437 NTF4 Synonymous SNV A184A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.472 301735 chr17 71739195 71739195 C G LOC100134391 0 0 0 2 0 0 0.005 0 0 0 0 0 0.839 301736 chr3 151475239 151475239 C G rs201287466 AADACL2 Nonsynonymous SNV R355G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 301737 chr7 39990725 39990725 C G CDK13 Nonsynonymous SNV A162G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 301738 chr7 41729709 41729709 C T rs768547360 INHBA Nonsynonymous SNV G274R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.4 301739 chr10 19498403 19498403 C G MALRD1 Nonsynonymous SNV L929V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 301740 chr19 45716494 45716494 G A rs750772950 EXOC3L2 Nonsynonymous SNV R355W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301741 chr19 686928 686928 G A rs763652587 PRSS57 Synonymous SNV C213C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.367 301742 chr19 46265085 46265085 - CA rs59054027 BHMG1 Frameshift insertion E466Rfs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 301743 chr19 46265086 46265086 - CTCT rs755841213 BHMG1 Stop gain E466Lfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 301744 chr10 29821995 29821995 C T rs757246613 SVIL Nonsynonymous SNV G434E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 301745 chr7 128506837 128506837 G A ATP6V1FNB Nonsynonymous SNV R125Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.14 301746 chr7 132481336 132481336 C T rs114154515 CHCHD3 Nonsynonymous SNV R176Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 301747 chr17 75192322 75192322 G A rs939180121 SEC14L1 Nonsynonymous SNV D216N 0 0 0 2 0 0 0.005 0 0 0 0 0 24.5 301748 chr19 5219952 5219952 G C rs139608745 PTPRS Nonsynonymous SNV P824A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.925 301749 chr10 45429172 45429172 G A rs768358660 TMEM72 Synonymous SNV L99L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 301750 chr10 46121398 46121398 C A rs138611228 ZFAND4 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 301751 chr10 48371427 48371427 A T ZNF488 Stop gain K299X 0 0 0.003 0 0 0 0 1 0 0 0 0 52 301752 chr19 20002848 20002848 C G ZNF253 Synonymous SNV A188A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.77 301753 chr3 26751838 26751838 G T rs371763806 LRRC3B Synonymous SNV V225V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.224 301754 chr19 21605890 21605890 C A ZNF493 Nonsynonymous SNV N15K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.8 301755 chr19 21605891 21605891 C G ZNF493 Nonsynonymous SNV Q16E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.281 301756 chr10 60558217 60558217 G C rs973554739 BICC1 Nonsynonymous SNV L475F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.91 301757 chr7 94047072 94047072 G A COL1A2 Nonsynonymous SNV G634S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 301758 chr17 79207234 79207234 G A rs201854708 TEPSIN Nonsynonymous SNV T175M 0 0 0 2 0 0 0.005 0 0 0 0 0 20.8 301759 chr17 9631382 9631382 G T USP43 Nonsynonymous SNV R811L 0 0 0 2 0 0 0.005 0 0 0 0 0 24.8 301760 chr18 10807243 10807243 G T rs374993280 PIEZO2 Nonsynonymous SNV T316K 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Likely benign 23.1 301761 chr10 85974132 85974134 AAC - rs770949432 CDHR1 N781del 0 0 0.003 0 0 0 0 1 0 0 0 0 301762 chr3 46307037 46307037 G A rs764940028 CCR3 Nonsynonymous SNV D130N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 301763 chr18 45394770 45394770 C T rs200480021 SMAD2 Synonymous SNV L163L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.99 301764 chr18 29115255 29115255 G A rs370509593 DSG2 Nonsynonymous SNV D435N 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 301765 chr10 96824691 96824691 G A rs150790274 CYP2C8 Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.944 301766 chr18 3094254 3094254 C A rs759461350 MYOM1 Nonsynonymous SNV V1164F 0 0 0 2 0 0 0.005 0 0 0 0 0 33 301767 chr7 100839283 100839283 C T rs551948278 MOGAT3 Nonsynonymous SNV R256Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 301768 chr3 50390723 50390723 C G rs143424104 CYB561D2 Nonsynonymous SNV L73V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.668 301769 chr3 52819189 52819189 G A rs201320586 ITIH1 Nonsynonymous SNV G225R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 301770 chr3 53779671 53779671 C T rs756714892 CACNA1D Synonymous SNV F1009F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 301771 chr7 108155575 108155575 C G PNPLA8 Nonsynonymous SNV E121Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 301772 chr7 116937727 116937727 C T rs61736336 WNT2 Synonymous SNV T264T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.73 301773 chr3 57489755 57489755 G A rs779411111 DNAH12 Synonymous SNV A358A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.753 301774 chr19 7916459 7916459 A G EVI5L Nonsynonymous SNV Y298C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 301775 chr19 7965487 7965487 G A rs779654778 LRRC8E Nonsynonymous SNV E565K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 301776 chr18 67806890 67806890 T C RTTN Synonymous SNV P911P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.023 301777 chr19 5786792 5786792 C T rs201763995 DUS3L Nonsynonymous SNV C243Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 301778 chr7 130024991 130024991 C T rs782313134 CPA1 Synonymous SNV S264S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.87 301779 chr18 60191306 60191306 G A rs978244389 ZCCHC2 Nonsynonymous SNV A217T 0 0 0 2 0 0 0.005 0 0 0 0 0 20 301780 chr7 131887495 131887495 G A rs117847895 PLXNA4 Synonymous SNV C832C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.478 301781 chr19 880140 880140 G A rs751265880 MED16 Synonymous SNV L384L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.102 301782 chr11 104901071 104901071 T A CASP1 Nonsynonymous SNV N184Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 301783 chr18 6959370 6959370 G A rs141247075 LAMA1 Nonsynonymous SNV A2583V 0 0 0 2 0 0 0.005 0 0 0 0 0 19.23 301784 chr7 138849964 138849964 T C rs762933843 TTC26 Synonymous SNV I162I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.581 301785 chr19 10116378 10116378 C T rs755020568 COL5A3 Synonymous SNV V150V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.48 301786 chr19 10794150 10794150 G A ILF3 Nonsynonymous SNV A599T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.75 301787 chr7 149474872 149474872 C - SSPO 0 0.003 0 0 0 1 0 0 0 0 0 0 301788 chr1 103491835 103491835 A G COL11A1 Synonymous SNV Y278Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.604 301789 chr4 128651871 128651871 C A rs374710997 SLC25A31 Synonymous SNV I57I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 301790 chr4 129028523 129028526 TTAC - rs369643733 LARP1B Y354Ffs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 301791 chr19 1037687 1037687 T G CNN2 Nonsynonymous SNV C201G 0 0 0 2 0 0 0.005 0 0 0 0 0 19.97 301792 chr7 150644457 150644457 G A rs200799870 KCNH2 Synonymous SNV D697D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.74 301793 chr11 121460098 121460098 C T rs145806727 SORL1 Synonymous SNV C1359C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 301794 chr19 14262375 14262375 G A rs540308158 ADGRL1 Synonymous SNV N1240N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.02 301795 chr11 122017300 122017300 C T rs1023002595 MIRLET7A2 0 0 0.003 0 0 0 0 1 0 0 0 0 16.63 301796 chr11 123847686 123847686 G A rs750802936 OR10S1 Nonsynonymous SNV A238V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 301797 chr11 123909293 123909293 G A rs146400208 OR10G7 Nonsynonymous SNV S139L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.602 301798 chr11 123909420 123909420 C T rs147002134 OR10G7 Nonsynonymous SNV V97M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.771 301799 chr4 155665881 155665881 G T rs139819099 LRAT Nonsynonymous SNV A135S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Uncertain significance 18.85 301800 chr19 15483126 15483126 T C rs146400287 AKAP8 Synonymous SNV P298P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 9.509 301801 chr19 11106948 11106948 C T SMARCA4 Synonymous SNV A551A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 18.62 301802 chr19 1478779 1478779 G C rs368399071 C19orf25 Nonsynonymous SNV P42A 0 0 0 3 0 0 0.008 0 0 0 0 0 0.004 301803 chr4 183694626 183694626 T C rs746303273 TENM3 Nonsynonymous SNV Y1632H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 301804 chr19 17653036 17653048 TGGCAGCACCGTT - rs565920221 NIBAN3 A180Ffs*34 0.002 0.003 0 0 2 1 0 0 0 0 0 0 301805 chr19 50376552 50376552 T G AKT1S1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 25 301806 chr4 20852263 20852263 G C rs375189591 KCNIP4 Nonsynonymous SNV A10G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 301807 chr4 25415297 25415297 G A rs769299350 ANAPC4 Nonsynonymous SNV R520Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 301808 chr4 2944036 2944036 G A NOP14 Nonsynonymous SNV S645L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 301809 chr8 18079577 18079577 T G rs4986992 NAT1 Synonymous SNV L7L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.485 301810 chr8 18080333 18080333 T C rs4986991 NAT1 Synonymous SNV S259S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.343 301811 chr19 16899834 16899834 G A rs112298174 NWD1 Nonsynonymous SNV A719T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.6 301812 chr11 20181663 20181663 C T DBX1 Nonsynonymous SNV A70T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.681 301813 chr19 18979438 18979438 C T rs754571030 GDF1 Nonsynonymous SNV D363N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 26.9 301814 chr11 22848847 22848847 A C rs753901428 SVIP Stop gain L44X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 301815 chr11 2683452 2683452 C A rs231363 KCNQ1OT1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 301816 chr1 114308891 114308891 A G RSBN1 Nonsynonymous SNV V707A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.731 301817 chr11 2946423 2946423 G A rs144107158 SLC22A18 Nonsynonymous SNV R326Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 301818 chr4 4393248 4393248 G C rs368860480 NSG1 Nonsynonymous SNV G59A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 301819 chr19 18260204 18260204 C T rs906101465 MAST3 Nonsynonymous SNV R1200C 0 0 0 2 0 0 0.005 0 0 0 0 0 27.7 301820 chr11 3688803 3688803 C T rs182159148 CHRNA10 Nonsynonymous SNV R185Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 301821 chr4 57180474 57180474 T G rs553362419 KIAA1211 Nonsynonymous SNV L269R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 301822 chr11 4566925 4566925 C T rs746847644 OR52M1 Synonymous SNV L169L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.392 301823 chr11 46333958 46333958 C T CREB3L1 Nonsynonymous SNV T279I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 301824 chr4 676673 676673 G A rs553322186 SLC49A3 Synonymous SNV A268A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.769 301825 chr8 52359609 52359609 A G rs368365320 PXDNL Synonymous SNV L494L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.601 301826 chr8 53570628 53570628 T G rs747059471 RB1CC1 Nonsynonymous SNV N617T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 301827 chr4 70351001 70351001 G T rs773051968 UGT2B4 Nonsynonymous SNV A412D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 301828 chr4 70351002 70351002 C T rs760393208 UGT2B4 Nonsynonymous SNV A412T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 301829 chr19 24309767 24309767 A G rs148025313 ZNF254 Nonsynonymous SNV Y237C 0 0 0 2 0 0 0.005 0 0 0 0 0 23 301830 chr11 48328258 48328258 G A rs144564580 OR4S1 Nonsynonymous SNV V162I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.921 301831 chr4 74450964 74450964 A C rs755878095 RASSF6 Nonsynonymous SNV L155R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 301832 chr4 74853274 74853274 C T rs145613589 PPBP Nonsynonymous SNV V82M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 301833 chr19 3178841 3178841 G A rs763097963 S1PR4 Synonymous SNV A17A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.15 301834 chr4 76521479 76521479 C T rs146029707 CDKL2 Synonymous SNV P456P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 301835 chr8 77766266 77766266 C T rs200621033 ZFHX4 Nonsynonymous SNV T2370M 0 0.003 0 0 0 1 0 0 0 0 0 0 15.62 301836 chr8 77767736 77767736 G A ZFHX4 Nonsynonymous SNV C2860Y 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 301837 chr19 33457336 33457336 C T rs201497197 CEP89 Nonsynonymous SNV V26I 0 0 0 2 0 0 0.005 0 0 0 0 0 6.551 301838 chr1 159825833 159825833 C T rs143172877 VSIG8 Nonsynonymous SNV G271S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 301839 chr4 79786805 79786805 A C rs138988388 BMP2K Nonsynonymous SNV T388P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.846 301840 chr1 160769605 160769605 G A rs146628334 LY9 Nonsynonymous SNV V63M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 301841 chr19 3453825 3453825 C T rs199528650 NFIC Nonsynonymous SNV P445L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.2 301842 chr1 155217691 155217691 C A rs750576160 FAM189B Nonsynonymous SNV C534F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 301843 chr1 167962631 167962631 A G rs763894032 DCAF6 Nonsynonymous SNV T255A 0.001 0 0 0 1 0 0 0 0 0 0 0 22 301844 chr8 120435268 120435268 C G rs748353967 CCN3 Nonsynonymous SNV P324A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 301845 chr8 124109635 124109635 G A rs142466644 TBC1D31 Nonsynonymous SNV R157H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 301846 chr5 109202589 109202589 C G rs751930912 MAN2A1 Nonsynonymous SNV L1109V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 301847 chr1 173594022 173594022 C T rs34387166 ANKRD45 Nonsynonymous SNV E212K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301848 chr19 39406707 39406707 G A rs556892787 SARS2 Synonymous SNV T439T 0 0 0 3 0 0 0.008 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.69 301849 chr5 1216996 1216996 C A SLC6A19 Nonsynonymous SNV S370Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 301850 chr5 1216997 1216997 C T rs564673494 SLC6A19 Synonymous SNV S370S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 301851 chr1 159409798 159409798 T C rs116754841 OR10J1 Nonsynonymous SNV Y73H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 301852 chr19 41743988 41743988 G A rs776310618 AXL Nonsynonymous SNV R40H 0 0 0 2 0 0 0.005 0 0 0 0 0 28.9 301853 chr5 135223769 135223769 T G rs73287302 SLC25A48 Nonsynonymous SNV M157R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 301854 chr5 135587402 135587402 T C rs199830148 TRPC7 Nonsynonymous SNV Q389R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 301855 chr9 114676899 114676899 A G rs368934544 UGCG Nonsynonymous SNV N38S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 301856 chr11 57003504 57003504 G A rs147695707 APLNR Synonymous SNV C325C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.697 301857 chr8 144906547 144906547 C A rs753578133 PUF60 Nonsynonymous SNV G15V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 301858 chr11 57947258 57947258 C A rs377716944 OR9Q1 Synonymous SNV L114L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 301859 chr9 116967404 116967404 C T rs769826481 COL27A1 Nonsynonymous SNV P716L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 301860 chr9 123210195 123210195 C T rs373365484 CDK5RAP2 Synonymous SNV T771T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.04 301861 chr19 44777144 44777144 C T ZNF233 Stop gain Q111X 0 0 0 2 0 0 0.005 0 0 0 0 0 34 301862 chr11 59810968 59810968 T C rs775525994 OOSP2 Synonymous SNV L31L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 301863 chr5 140807740 140807740 C A rs192741775 PCDHGB8P 0 0 0.007 0 0 0 0 2 0 0 0 0 5.194 301864 chr11 60669932 60669932 C T rs139688916 PRPF19 Synonymous SNV A156A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 301865 chr11 60701107 60701107 G A TMEM132A Nonsynonymous SNV A485T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 301866 chr1 201333465 201333465 G A rs200604266 TNNT2 Synonymous SNV I135I 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 12.75 301867 chr5 14714669 14714669 G C LOC100130744 0 0 0.003 0 0 0 0 1 0 0 0 0 1.405 301868 chr19 45848816 45848816 C T rs780895997 KLC3 Nonsynonymous SNV A6V 0 0 0 2 0 0 0.005 0 0 0 0 0 2.402 301869 chr11 61539202 61539202 C T rs143799782 MYRF Nonsynonymous SNV P324L 0 0 0.003 0 0 0 0 1 0 0 0 0 26 301870 chr11 6221258 6221258 T C OR52W1 Nonsynonymous SNV F269L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 301871 chr11 62290962 62290962 G T rs566830952 AHNAK Nonsynonymous SNV P3643T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 301872 chr9 14859258 14859258 T C FREM1 Nonsynonymous SNV H185R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.735 301873 chr1 1900142 1900142 C T rs201527328 CFAP74 Nonsynonymous SNV D393N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 301874 chr9 20414310 20414310 - CTGCTGCTG MLLT3 S187_T188insSSS 0.001 0.003 0 0 1 1 0 0 0 0 0 0 301875 chr11 64084495 64084495 G A rs777476927 TRMT112 Nonsynonymous SNV T102I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 301876 chr1 196963213 196963213 G A rs57960694 CFHR5 Nonsynonymous SNV G145E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 0.001 301877 chr11 64375454 64375454 G A rs761372458 NRXN2 Synonymous SNV P405P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.621 301878 chr11 64532890 64532890 A G SF1 Nonsynonymous SNV W448R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 301879 chr5 153433071 153433071 C A MFAP3 Nonsynonymous SNV P150Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 301880 chr11 64645851 64645851 T C EHD1 Nonsynonymous SNV Y29C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 301881 chr11 64820695 64820695 T G rs12223986 NAALADL1 Nonsynonymous SNV K398T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 301882 chr11 64825441 64825441 G A NAALADL1 Nonsynonymous SNV S129F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 301883 chr11 65320709 65320709 G A rs28403592 LTBP3 Nonsynonymous SNV P330L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.7 301884 chr11 65347830 65347830 G A rs199551986 EHBP1L1 Nonsynonymous SNV A172T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 32 301885 chr19 51857688 51857688 C T rs374277927 ETFB Nonsynonymous SNV G69R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 301886 chr1 215847490 215847490 G T rs78253373 USH2A Nonsynonymous SNV S4588Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.4 301887 chr11 65618607 65618607 G A rs562049246 SNX32 Nonsynonymous SNV D229N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 301888 chr11 66052931 66052931 G A rs34297861 YIF1A Synonymous SNV L188L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 301889 chr11 66236369 66236369 A G PELI3 Nonsynonymous SNV H73R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.191 301890 chr19 50251645 50251645 C T rs143235761 TSKS Nonsynonymous SNV V161M 0 0 0 2 0 0 0.005 0 0 0 0 0 33 301891 chr1 203708945 203708945 C T rs77197094 ATP2B4 Nonsynonymous SNV S1194L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 301892 chr1 22191351 22191351 G A rs139495842 HSPG2 Synonymous SNV I1538I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.378 301893 chr1 203766810 203766810 A G rs538701413 ZBED6 Nonsynonymous SNV K54E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 301894 chr1 204199577 204199577 C T rs139335539 PLEKHA6 Synonymous SNV P849P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 301895 chr11 67265636 67265636 G A rs143726971 PITPNM1 Nonsynonymous SNV R548C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 301896 chr5 176721779 176721779 T C rs368743619 NSD1 Synonymous SNV A2470A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 301897 chr5 176830993 176830993 C T rs1023125266 F12 Nonsynonymous SNV V373I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.76 301898 chr19 53553048 53553048 C T rs747637697 ERVV-2 Nonsynonymous SNV R182C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.35 301899 chr1 222825569 222825569 G A MIA3 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 301900 chr5 176936548 176936548 G A rs148331703 DOK3 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.824 301901 chr1 223176892 223176892 G A rs201743091 DISP1 Nonsynonymous SNV R718H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301902 chr19 51412536 51412536 C A KLK4 Nonsynonymous SNV V66L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 301903 chr19 51452357 51452357 C T rs117067639 KLK5 Nonsynonymous SNV R117H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.5 301904 chr5 179147534 179147534 T C CANX Synonymous SNV P277P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.552 301905 chr9 95007322 95007322 G A rs137864896 IARS1 Synonymous SNV H913H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 9.201 301906 chr5 33452492 33452492 G T rs751368995 TARS Nonsynonymous SNV A126S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 301907 chr11 76256910 76256910 A G rs753817559 EMSY Nonsynonymous SNV T1116A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.765 301908 chr9 107556793 107556793 - AAAA rs377469216 ABCA1 0 0.005 0 0 0 2 0 0 0 1 0 0 301909 chr9 112898462 112898462 A G PALM2AKAP2 Nonsynonymous SNV Y71C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.311 301910 chr1 230846306 230846306 G A rs11557884 AGT Synonymous SNV T97T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.798 301911 chr11 81601863 81601863 C - rs147006890 MIR4300 0 0 0.003 0 0 0 0 1 0 0 0 0 301912 chr5 42695158 42695158 G T rs150584105 GHR Nonsynonymous SNV V114L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.007 301913 chr5 42700054 42700054 C T rs150116251 GHR Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 301914 chr5 44305133 44305133 G A rs17234639 FGF10 Synonymous SNV T197T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 4.141 301915 chr9 114994474 114994474 T C rs191339291 PTBP3 Nonsynonymous SNV I242V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.084 301916 chr9 115760197 115760197 G T ZNF883 Nonsynonymous SNV H115N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.09 301917 chr9 116172552 116172552 G A rs111911243 POLE3 Synonymous SNV L8L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 301918 chr9 116245282 116245282 G A rs111327818 RGS3 Nonsynonymous SNV R27H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.281 301919 chr9 116356549 116356549 C G rs113405588 RGS3 Nonsynonymous SNV P117R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.41 301920 chr5 54826612 54826612 G C rs370764775 RNF138P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.177 301921 chr9 121929598 121929598 C T rs150266873 BRINP1 Nonsynonymous SNV G684S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 301922 chr5 68709879 68709879 T C RAD17 Synonymous SNV T602T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.694 301923 chr1 54704605 54704605 C T rs772425277 SSBP3-AS1 0.002 0 0 0 2 0 0 0 1 0 0 0 5.79 301924 chr1 245850489 245850489 C G rs184020024 KIF26B Nonsynonymous SNV R1402G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 301925 chr1 149905333 149905333 A G MTMR11 Synonymous SNV L245L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.549 301926 chr9 130529268 130529268 G A rs115584033 SH2D3C Nonsynonymous SNV R75W 0 0.003 0 0 0 1 0 0 0 0 0 0 0.488 301927 chr5 79747361 79747361 A G ZFYVE16 Nonsynonymous SNV K1147R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 301928 chr12 109629653 109629653 C T rs754505331 ACACB Nonsynonymous SNV A766V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 301929 chr9 131191246 131191246 G A rs771197914 CERCAM Nonsynonymous SNV R256Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 301930 chr12 110206095 110206095 C A rs776293773 FAM222A Nonsynonymous SNV P121T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.657 301931 chr12 112338197 112338197 G A rs146472352 ADAM1A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 301932 chr9 131757697 131757697 C T rs115625120 NUP188 Synonymous SNV H1085H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.32 301933 chr1 160846532 160846532 C T ITLN1 Stop gain W288X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 301934 chr1 161160833 161160833 C T rs41270037 ADAMTS4 Synonymous SNV Q816Q 0.002 0 0 0 2 0 0 0 0 0 0 0 11.94 301935 chr1 27875583 27875583 G A AHDC1 Nonsynonymous SNV A1015V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 301936 chr1 155701738 155701738 G A rs745719677 DAP3 Nonsynonymous SNV G269R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 301937 chr19 6151738 6151738 C T rs763710222 ACSBG2 Synonymous SNV H106H 0 0 0 2 0 0 0.005 0 0 0 0 0 14.35 301938 chr1 156206143 156206143 C T rs149553436 PMF1, PMF1-BGLAP Nonsynonymous SNV R76W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 301939 chr1 31896645 31896645 G T rs143577376 SERINC2 Nonsynonymous SNV G53W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 301940 chr9 136405805 136405805 C T rs767597729 ADAMTSL2 Synonymous SNV R166R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.41 301941 chr12 123006724 123006724 T C RSRC2 Synonymous SNV S43S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.206 301942 chr1 33272086 33272086 C T rs200278380 YARS1 Synonymous SNV L169L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.076 301943 chr12 124416370 124416370 G A rs754973517 DNAH10 Synonymous SNV T4250T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.372 301944 chr9 139287001 139287001 G A rs755994469 SNAPC4 Synonymous SNV H261H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.745 301945 chr12 126942823 126942823 G T rs867901982 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 1.42 301946 chr9 139371398 139371398 G A rs747030265 SEC16A Nonsynonymous SNV P224S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.41 301947 chr19 9069152 9069152 G A rs776770783 MUC16 Synonymous SNV S6098S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 1.367 301948 chr12 132682449 132682449 G A rs201724771 GALNT9 Nonsynonymous SNV A152V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.34 301949 chr1 40432550 40432550 C T rs201251882 MFSD2A Synonymous SNV H135H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 301950 chr1 41483597 41483597 G A rs758330920 SLFNL1 Nonsynonymous SNV R223C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301951 chr9 140330699 140330699 C T rs202233440 ENTPD8 Synonymous SNV P272P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 301952 chr1 41946854 41946854 C T rs151334316 EDN2 Nonsynonymous SNV G119R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.474 301953 chr10 1130411 1130411 C T rs374731548 WDR37 Synonymous SNV H155H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.43 301954 chr6 13281139 13281139 G A rs886162626 LOC100130357 0 0 0.003 0 0 0 0 1 0 0 0 0 2.85 301955 chr1 43908562 43908562 C T rs760152706 SZT2 Nonsynonymous SNV R2685C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 301956 chr6 134436408 134436411 CAGT - HMGA1P7 0 0 0.003 0 0 0 0 1 0 0 0 0 301957 chr1 47501822 47501822 C T rs142075062 CYP4X1 Stop gain R251X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 301958 chr1 52257317 52257317 T A rs150945886 NRDC Nonsynonymous SNV T965S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 301959 chr12 48196047 48196047 C G rs772067127 HDAC7 Nonsynonymous SNV Q10H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 301960 chr6 155141458 155141458 G A rs758285237 SCAF8 Nonsynonymous SNV V595I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 301961 chr12 49308227 49308227 C T rs201888145 CCDC65 Nonsynonymous SNV A114V 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 22.1 301962 chr12 49426847 49426847 T C rs797045657 KMT2D Nonsynonymous SNV M3881V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.002 301963 chr12 50294957 50294957 G A FAIM2 Nonsynonymous SNV P56L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.735 301964 chr1 11106673 11106673 G A rs147270785 MASP2 Nonsynonymous SNV R118C 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 25.4 301965 chr10 32582589 32582589 C G EPC1 Nonsynonymous SNV K130N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 301966 chr12 52652026 52652026 T C KRT87P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 301967 chr12 52680259 52680259 C G rs762453725 KRT81 Nonsynonymous SNV G433A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 301968 chr6 167728776 167728776 T C rs138732131 UNC93A Nonsynonymous SNV F362L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.281 301969 chr1 114945502 114945502 C T TRIM33 Synonymous SNV G924G 0 0 0 2 0 0 0.005 0 0 0 0 0 17.05 301970 chr6 170871047 170871058 CAGCAGCAGCAG - TBP Q72_Q75del 0 0 0.007 0 0 0 0 2 0 0 1 0 301971 chr6 18191501 18191501 G A rs977728901 KDM1B Synonymous SNV P286P 0 0 0.007 0 0 0 0 2 0 0 0 0 14.67 301972 chr10 50025340 50025340 C A WDFY4 Nonsynonymous SNV S1797R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 301973 chr12 56079053 56079053 G A rs139136931 ITGA7 Nonsynonymous SNV A620V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 301974 chr10 54042029 54042029 C T rs374202731 PRKG1 Synonymous SNV A539A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.34 301975 chr12 57008977 57008977 A C BAZ2A Nonsynonymous SNV F184C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 301976 chr10 71665574 71665574 G A rs369087232 COL13A1 Nonsynonymous SNV R259Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 301977 chr10 71877623 71877623 G A rs143541825 AIFM2 Synonymous SNV S187S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.21 301978 chr12 6669319 6669319 C A rs763062572 NOP2 Synonymous SNV G574G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 301979 chr1 204378823 204378823 C G rs749898755 PPP1R15B Nonsynonymous SNV A573P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 301980 chr1 205041191 205041191 C T rs769988245 CNTN2 Synonymous SNV T887T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 301981 chr12 6993652 6993652 C T rs868989556 RPL13P5 0 0 0.003 0 0 0 0 1 0 0 0 0 7.925 301982 chr10 73767986 73767986 C T rs184636110 CHST3 Synonymous SNV D399D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.25 301983 chr6 38883000 38883000 C T rs150857304 DNAH8 Synonymous SNV S3112S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.38 301984 chr6 39284197 39284197 T C KCNK16 Nonsynonymous SNV Y228C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 301985 chr1 15495062 15495062 G T rs1004092014 C1orf195 Nonsynonymous SNV Q104K 0 0 0 2 0 0 0.005 0 0 0 0 0 0.011 301986 chr12 75875683 75875683 C T rs138690767 GLIPR1 Nonsynonymous SNV R82W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 301987 chr6 43197005 43197005 C A rs765908290 DNPH1 Nonsynonymous SNV A64S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 301988 chr6 43197019 43197019 G A rs764768424 DNPH1 Nonsynonymous SNV A59V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 301989 chr6 43271894 43271894 G A rs201403046 SLC22A7 Nonsynonymous SNV A500T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 301990 chr1 156640208 156640208 - C NES Frameshift insertion K1258Efs*33 0 0 0 2 0 0 0.005 0 0 0 0 0 301991 chr12 9020827 9020827 C T rs201083574 A2ML1 Nonsynonymous SNV T821M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 301992 chr21 15583143 15583143 A C LIPI Nonsynonymous SNV C8W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 301993 chr10 98806478 98806478 G A rs761032432 SLIT1 Synonymous SNV L596L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.861 301994 chr13 103400331 103400331 G A rs374988760 CCDC168 Stop gain Q906X 0 0 0.003 0 0 0 0 1 0 0 0 0 1.563 301995 chr13 113212530 113212530 C T rs758814255 TUBGCP3 Synonymous SNV A166A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 301996 chr10 106075677 106075677 G A ITPRIP Stop gain Q45X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 301997 chr6 75899075 75899075 A C COL12A1 Synonymous SNV V227V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.462 301998 chr1 167301743 167301743 C T rs879839804 POU2F1 Nonsynonymous SNV P22L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.4 301999 chr1 167334777 167334777 G A rs561693877 POU2F1 Synonymous SNV A56A 0 0 0 2 0 0 0.005 0 0 0 0 0 13.98 302000 chr1 169446957 169446957 - T rs752104654 SLC19A2 Stop gain Y81* 0 0 0 2 0 0 0.005 0 0 0 0 0 302001 chr6 83832648 83832648 C T rs144524256 DOP1A Synonymous SNV F420F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.23 302002 chr13 28014440 28014440 A C MTIF3 Nonsynonymous SNV L49R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.713 302003 chr6 90428621 90428621 G C rs777349726 MDN1 Synonymous SNV V2062V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.438 302004 chr13 32954268 32954268 T C rs80359189 BRCA2 Nonsynonymous SNV V3081A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 302005 chr1 17313313 17313313 C T rs372993383 ATP13A2 Synonymous SNV P1030P 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.129 302006 chr13 39265367 39265367 G A FREM2 Nonsynonymous SNV V1296I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.136 302007 chr1 176055026 176055026 T C rs201597739 COP1 Nonsynonymous SNV T103A 0 0 0 2 0 0 0.005 0 0 0 0 0 8.977 302008 chr20 44048149 44048149 C A rs747368010 PIGT Synonymous SNV G98G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 302009 chr1 248525222 248525222 C A rs140661588 OR2T4 Nonsynonymous SNV L114I 0.002 0 0 2 2 0 0.005 0 0 0 0 0 0.104 302010 chr13 53624872 53624872 A G OLFM4 Nonsynonymous SNV N500S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.195 302011 chr13 99099003 99099003 C T rs149257625 FARP1 Synonymous SNV Y996Y 0 0 0.007 0 0 0 0 2 0 0 0 0 14.18 302012 chr13 99478162 99478162 G T rs868256635 DOCK9 Nonsynonymous SNV H1686N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.574 302013 chr11 6415245 6415245 C T rs141641266 SMPD1 Nonsynonymous SNV A443V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.25 302014 chr1 28537108 28537108 G A rs377285666 DNAJC8 Nonsynonymous SNV A93V 0.002 0 0 0 2 0 0 0 0 0 0 0 20.8 302015 chr1 200818289 200818289 A T CAMSAP2 Nonsynonymous SNV I782L 0 0 0 2 0 0 0.005 0 0 0 0 0 5.178 302016 chr1 201178637 201178637 C G IGFN1 Nonsynonymous SNV A1539G 0 0 0 2 0 0 0.005 0 0 0 0 0 0.003 302017 chr14 20482511 20482511 G A rs74341536 OR4K14 Nonsynonymous SNV P281L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 302018 chr14 20822384 20822384 T A rs747979536 PARP2 Stop gain Y247X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 302019 chr14 20859179 20859179 C T rs760301602 TEP1 Nonsynonymous SNV G617E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 302020 chr11 10051410 10051410 A C rs146361949 SBF2 Nonsynonymous SNV L139V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.7 302021 chr20 61537318 61537318 C T rs753618759 DIDO1 Synonymous SNV P503P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 302022 chr7 12675760 12675760 G A rs756829862 SCIN Synonymous SNV Q223Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 302023 chr7 127235709 127235709 C G rs375234200 FSCN3 Nonsynonymous SNV R165G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 302024 chr7 128804366 128804366 G C rs150641480 TSPAN33 Nonsynonymous SNV D139H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 302025 chr1 205042816 205042816 C T rs764275222 CNTN2 Nonsynonymous SNV R1016C 0 0 0 2 0 0 0.005 0 0 0 0 0 9.249 302026 chr20 60639761 60639761 G A TAF4 Nonsynonymous SNV T369M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 302027 chr7 139799746 139799746 C T rs377723785 KDM7A Synonymous SNV A572A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 302028 chr21 17250624 17250624 C T rs143875283 USP25 Nonsynonymous SNV H779Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 302029 chr14 24534188 24534188 C T rs138790987 CARMIL3 Synonymous SNV T1034T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 302030 chr11 1030629 1030629 C T MUC6 Nonsynonymous SNV R279H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 302031 chr1 222801235 222801235 G C rs184666801 MIA3 Nonsynonymous SNV A225P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 302032 chr20 61297803 61297803 C G rs147153778 SLCO4A1 Nonsynonymous SNV R450G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 302033 chr7 143053860 143053860 G A rs200621437 FAM131B Nonsynonymous SNV P195L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 302034 chr14 31364948 31364948 A G rs114922597 STRN3 Nonsynonymous SNV M631T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 302035 chr14 31852854 31852854 C T rs61744823 HEATR5A Nonsynonymous SNV R490H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 302036 chr7 1479606 1479606 G A MICALL2 Nonsynonymous SNV P641S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 302037 chr7 149485712 149485712 C T rs140129382 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 9.358 302038 chr7 150884106 150884106 G C ASB10 Nonsynonymous SNV H38D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 302039 chr14 45370074 45370074 C A C14orf28 Nonsynonymous SNV L146I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 302040 chr14 45370089 45370089 C A C14orf28 Nonsynonymous SNV Q151K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 302041 chr7 1526556 1526556 A T rs761175419 INTS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 302042 chr7 1539638 1539638 C T rs373727561 INTS1 Nonsynonymous SNV R189Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302043 chr11 3838589 3838589 C A rs909040574 PGAP2 Nonsynonymous SNV P58T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.13 302044 chr7 156742911 156742911 C A NOM1 Synonymous SNV T160T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 302045 chr1 228444563 228444563 G A rs372472787 OBSCN Synonymous SNV A1507A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.99 302046 chr21 15746322 15746322 C T rs747161065 HSPA13 Synonymous SNV G344G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.097 302047 chr1 224378005 224378005 G C rs377178997 DEGS1 Nonsynonymous SNV G270A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 302048 chr14 56044091 56044091 C T rs576349323 KTN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.893 302049 chr1 57372440 57372440 T - rs749609881 C8A Stop gain C399* 0.002 0 0 0 2 0 0 0 0 0 0 0 302050 chr1 57372441 57372441 A C rs768799122 C8A Nonsynonymous SNV K400Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 302051 chr14 60072188 60072188 C T rs138910153 RTN1 Synonymous SNV E87E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 302052 chr7 24849459 24849459 C T rs367584899 OSBPL3 Nonsynonymous SNV G695S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.899 302053 chr7 28844104 28844104 C T CREB5 Nonsynonymous SNV P192S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 302054 chr21 46572598 46572598 G T rs141515801 ADARB1 Nonsynonymous SNV R25S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.18 302055 chr21 47571833 47571833 G A rs771547230 FTCD Synonymous SNV A143A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.373 302056 chr14 71542966 71542966 A G rs201401339 PCNX1 Nonsynonymous SNV M1612V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 302057 chr1 67301342 67301342 C T rs200172314 WDR78 Nonsynonymous SNV R567Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.48 302058 chr7 45002425 45002425 G A MYO1G Synonymous SNV L990L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 302059 chr7 4830330 4830330 G A rs543467648 AP5Z1 Synonymous SNV S499S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.612 302060 chr7 5270575 5270575 C G rs138780894 WIPI2 Nonsynonymous SNV D384E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 302061 chr7 5692049 5692049 G A RNF216 Synonymous SNV T718T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 302062 chr7 6075137 6075137 C T rs1053551485 ANKRD61 Nonsynonymous SNV T126M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.247 302063 chr14 95570404 95570404 A C rs759760077 DICER1 Nonsynonymous SNV I1110S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 302064 chr14 96798674 96798674 T C rs77998773 ATG2B Nonsynonymous SNV N479S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 302065 chr7 73477514 73477514 C T rs782335749 ELN Synonymous SNV L525L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.36 302066 chr15 101099447 101099447 C T rs750843544 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.01 302067 chr7 81589046 81589046 C T rs780560452 CACNA2D1 Synonymous SNV A1022A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 302068 chr15 25924980 25924980 G A rs114736146 ATP10A Synonymous SNV T1336T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.749 302069 chr15 28116328 28116328 A G rs780628028 OCA2 Nonsynonymous SNV I715T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 302070 chr15 39874444 39874444 G A rs748135401 THBS1 Nonsynonymous SNV A40T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 302071 chr1 26887998 26887998 G A rs756909196 RPS6KA1 Synonymous SNV V487V 0 0 0 2 0 0 0.005 0 0 0 0 0 11.57 302072 chr22 24567742 24567742 C A rs374113751 CABIN1 Nonsynonymous SNV P1890H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 302073 chr15 40659263 40659263 G A rs143054067 DISP2 Nonsynonymous SNV R317H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 32 302074 chr15 41120758 41120758 C A rs372838130 PPP1R14D Nonsynonymous SNV G28W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 302075 chr15 42158087 42158087 A G rs369144299 SPTBN5 Synonymous SNV N2279N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 302076 chr8 110476836 110476836 C T rs771539348 PKHD1L1 Nonsynonymous SNV P2592L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 302077 chr11 46818419 46818419 A C CKAP5 Synonymous SNV V470V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.24 302078 chr22 35782936 35782936 A C HMOX1 Nonsynonymous SNV T135P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 302079 chr1 39950388 39950388 A G rs778790002 MACF1 Nonsynonymous SNV K5341R 0 0 0 2 0 0 0.005 0 0 0 0 0 13.66 302080 chr22 38120429 38120429 T C rs6000868 TRIOBP Synonymous SNV D622D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 302081 chr8 130774938 130774938 - CTT GSDMC K203_A204insK 0 0 0.003 0 0 0 0 1 0 0 0 0 302082 chr22 38477315 38477315 C G rs767003994 SLC16A8 Nonsynonymous SNV D244H 0.001 0 0 0 1 0 0 0 0 0 0 0 28 302083 chr22 50591626 50591626 T C rs751532762 MOV10L1 Synonymous SNV P142P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.967 302084 chr11 66103624 66103624 G A rs777945851 RIN1 Nonsynonymous SNV A3V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 302085 chr15 58983061 58983061 C T HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.076 302086 chr22 51065341 51065341 C T rs201794808 ARSA Nonsynonymous SNV R202H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.74 302087 chr22 51113510 51113510 G C SHANK3 Nonsynonymous SNV W108S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 302088 chr1 52824114 52824114 G A rs763857426 CC2D1B Synonymous SNV G450G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.725 302089 chr1 53676784 53676784 G A rs201508063 CPT2 Nonsynonymous SNV G480R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 32 302090 chr15 67004012 67004012 C T rs759668190 SMAD6 Nonsynonymous SNV P275L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302091 chr11 55587813 55587813 C G OR5D18 Synonymous SNV R236R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.116 302092 chr1 57185845 57185845 C T rs781034175 FYB2 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 302093 chr11 55761779 55761779 G T rs200586728 OR5F1 Nonsynonymous SNV A108E 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 302094 chr2 10915145 10915145 A T rs149903295 ATP6V1C2 Nonsynonymous SNV E258V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 302095 chr2 10930847 10930847 C T rs150615615 PDIA6 Nonsynonymous SNV G233R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 302096 chr15 73615879 73615879 G A rs779241036 HCN4 Nonsynonymous SNV P852L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 302097 chr11 75133796 75133796 G A KLHL35 Nonsynonymous SNV T527I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 302098 chr15 75013005 75013005 C T rs180744198 CYP1A1 Nonsynonymous SNV R426Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302099 chr8 145640259 145640259 C T rs200502823 SLC39A4 Nonsynonymous SNV V251M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.249 302100 chr1 62913169 62913169 - GA USP1 Frameshift insertion S471Rfs*13 0.001 0.003 0 0 1 1 0 0 0 0 0 0 302101 chr15 75134439 75134439 G A rs775347115 ULK3 Nonsynonymous SNV A114V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 302102 chr11 76871262 76871262 C T MYO7A Synonymous SNV R378R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.89 302103 chr1 53737014 53737014 C T rs769819834 LRP8 Synonymous SNV L167L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.734 302104 chr15 75969133 75969133 G A rs761202291 CSPG4 Synonymous SNV N1909N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.711 302105 chr11 82917099 82917099 G C ANKRD42 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 302106 chr15 78882221 78882221 C T rs55863434 CHRNA5 Nonsynonymous SNV P163L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 302107 chr20 57429626 57429626 - A rs780257692 GNAS Frameshift insertion P374Tfs*603 0.001 0 0 0 1 0 0 0 0 0 0 0 302108 chr20 57429627 57429627 - GCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGA GNAS Frameshift insertion A437Pfs*265 0.001 0 0 0 1 0 0 0 0 0 0 0 302109 chr1 62330306 62330306 G T rs779335424 PATJ 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 302110 chr11 57097808 57097808 C T rs201528187 SSRP1 Synonymous SNV E464E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.14 302111 chr1 6592719 6592719 G C rs368549420 NOL9 Nonsynonymous SNV P447A 0 0 0 2 0 0 0.005 0 0 0 0 0 16.36 302112 chr1 86909617 86909617 C T rs781468140 CLCA2 Stop gain R546X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 302113 chr8 37593487 37593487 A - rs112819064 LOC102723701 0 0 0.003 0 0 0 0 1 0 0 0 0 302114 chr1 78267030 78267030 G A rs989499404 MIGA1 Synonymous SNV P70P 0 0 0 2 0 0 0.005 0 0 0 0 0 3.08 302115 chr11 60703562 60703562 G A rs550430630 TMEM132A Nonsynonymous SNV R753H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 28.9 302116 chr1 91405786 91405786 T C rs756367134 ZNF644 Synonymous SNV S375S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.028 302117 chr15 91500941 91500941 - TG rs777229549 RCCD1 Stop gain S226* 0 0 0.003 0 0 0 0 1 0 0 0 0 302118 chr15 95400049 95400049 - G rs201849168 LOC440311 0 0 0.014 0 0 0 0 4 0 0 0 0 302119 chr20 826140 826140 C A rs141475072 FAM110A Synonymous SNV I231I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.58 302120 chr2 128393470 128393470 G A rs771744721 MYO7B Synonymous SNV E1972E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.883 302121 chr11 62985088 62985088 G A rs148704171 SLC22A25 Nonsynonymous SNV A209V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.11 302122 chr16 1258189 1258189 G A rs59529743 CACNA1H Nonsynonymous SNV G1111R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.809 302123 chr16 15790636 15790636 C T NDE1 Nonsynonymous SNV P289L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 302124 chr8 97245407 97245407 T C rs199715537 UQCRB Nonsynonymous SNV N23S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 302125 chr2 158636869 158636869 G A rs758925804 ACVR1 Nonsynonymous SNV T104M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 302126 chr9 101540642 101540642 C T rs773125644 ANKS6 Nonsynonymous SNV G478E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 302127 chr9 101552515 101552515 C A rs752825071 ANKS6 Nonsynonymous SNV V245L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 302128 chr9 104341487 104341487 G A rs749449777 GRIN3A Synonymous SNV H974H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.511 302129 chr16 21078639 21078639 A G DNAH3 Synonymous SNV N1115N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.175 302130 chr16 2143979 2143979 C A rs141670808 PKD1 Nonsynonymous SNV A3551S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 302131 chr16 22278104 22278104 C T rs147445610 EEF2K Synonymous SNV H557H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 302132 chr16 23544046 23544046 C G EARS2 Nonsynonymous SNV Q333H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 302133 chr11 68115641 68115641 A G LRP5 Nonsynonymous SNV T140A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 302134 chr20 18508170 18508170 G T SEC23B Nonsynonymous SNV A342S 0 0 0 2 0 0 0.005 0 0 0 0 0 8.759 302135 chr16 28331591 28331591 G C SBK1 Synonymous SNV V208V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.473 302136 chr2 170783373 170783373 A G rs764875333 UBR3 Nonsynonymous SNV M744V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.405 302137 chr11 133715341 133715341 T A SPATA19 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 302138 chr12 974288 974288 C T rs786205473 WNK1 Nonsynonymous SNV R718C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 18.15 302139 chr9 118949813 118949813 C A PAPPA Synonymous SNV R266R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 302140 chr9 123792720 123792720 A G rs567288479 C5 Nonsynonymous SNV I244T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 302141 chr11 82880209 82880209 G C rs200338689 PCF11 Nonsynonymous SNV E1075D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.153 302142 chr11 86131002 86131002 G A rs150352880 CCDC81 Nonsynonymous SNV R485Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 302143 chr9 130473606 130473606 A G CFAP157 Nonsynonymous SNV K229R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 302144 chr2 219513482 219513482 G C ZNF142 Nonsynonymous SNV N383K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 302145 chr11 94040597 94040597 C T IZUMO1R Synonymous SNV N164N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 6.677 302146 chr16 5083391 5083391 C A NAGPA Nonsynonymous SNV R142L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 302147 chr9 132982045 132982045 G A rs11552457 NCS1 Synonymous SNV S72S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 10.46 302148 chr20 3838337 3838337 T G rs758631827 MAVS Nonsynonymous SNV L58R 0 0 0 2 0 0 0.005 0 0 0 0 0 24 302149 chr20 3845351 3845351 G C rs202136760 MAVS Nonsynonymous SNV M217I 0 0 0 2 0 0 0.005 0 0 0 0 0 0.011 302150 chr16 57938717 57938717 G A rs768202610 CNGB1 Nonsynonymous SNV P846L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 302151 chr9 135772072 135772072 G A rs759047948 TSC1 Synonymous SNV N964N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.41 302152 chr22 30737858 30737858 G T rs36085017 SF3A1 Synonymous SNV P298P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.279 302153 chr9 137623491 137623491 G C rs776878857 COL5A1 Nonsynonymous SNV Q438H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 302154 chr16 67005175 67005175 A G rs764082940 CES3 Nonsynonymous SNV D54G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 302155 chr11 111941950 111941950 T C PIH1D2 Nonsynonymous SNV K120R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.24 302156 chr16 70697712 70697712 C T rs755634566 MTSS2 Synonymous SNV T704T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.04 302157 chr16 77227526 77227526 G A rs142865965 MON1B Synonymous SNV R109R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 302158 chr16 77465315 77465315 G A ADAMTS18 Synonymous SNV V124V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.535 302159 chr12 30863013 30863013 C T CAPRIN2 Synonymous SNV E735E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.931 302160 chr16 838983 838983 C T rs765299600 CHTF18 Synonymous SNV P48P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.214 302161 chr9 19336301 19336301 C T rs201829438 DENND4C Nonsynonymous SNV R875C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302162 chr16 87377327 87377327 A G FBXO31 Synonymous SNV H178H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.47 302163 chr9 33953441 33953441 C G rs375705047 UBAP2 Nonsynonymous SNV V247L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 302164 chr9 35560646 35560646 C T rs570488011 RUSC2 Nonsynonymous SNV R459W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 302165 chr9 35853766 35853766 A G rs201597065 TMEM8B Nonsynonymous SNV I902V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 302166 chr2 29158398 29158398 A G rs369470696 WDR43 Synonymous SNV Q483Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.167 302167 chr9 72501780 72501780 A G rs142028833 C9orf135 Nonsynonymous SNV D60G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 302168 chr22 50715116 50715116 C T rs770951350 PLXNB2 Nonsynonymous SNV R1760Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 302169 chr2 220333624 220333624 C T rs185911101 SPEG Synonymous SNV D1115D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.84 302170 chr21 40763762 40763762 G C GET1, WRB-SH3BGR Nonsynonymous SNV Q78H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.986 302171 chr2 31621544 31621544 C T rs147286954 XDH Nonsynonymous SNV G110S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 302172 chr16 90095697 90095697 G A GAS8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.815 302173 chr17 10398325 10398325 G A rs764580949 MYH1 Synonymous SNV L1797L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.84 302174 chr9 79253138 79253138 C T rs202155186 PRUNE2 Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302175 chr17 10428620 10428620 C T rs142934668 MYH2 Nonsynonymous SNV R1528H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 302176 chr21 43243770 43243770 C A rs146558934 PRDM15 Synonymous SNV L592L 0 0.003 0 0 0 1 0 0 0 0 0 0 17.02 302177 chr12 4705340 4705340 G A DYRK4 Nonsynonymous SNV R103H 0 0.003 0 0 0 1 0 0 0 0 0 0 34 302178 chr9 94808306 94808306 C T rs147143593 SPTLC1 Nonsynonymous SNV G371R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.37 302179 chr2 42990137 42990137 G A rs370198807 OXER1 Nonsynonymous SNV R395W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 302180 chr9 95610706 95610706 G A rs766993936 ZNF484 Synonymous SNV D85D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.243 302181 chr17 1756448 1756448 G T rs776899154 RPA1 Nonsynonymous SNV G96V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 302182 chr9 97572293 97572293 C T rs369995284 MIR2278 0 0 0.003 0 0 0 0 1 0 0 0 0 4.094 302183 chr9 98231209 98231209 C T rs758487789 PTCH1 Nonsynonymous SNV V640M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.8 302184 chrM 2715 2715 C T RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 302185 chrM 2887 2887 T C RNR2 0 0 0.014 0 0 0 0 4 0 0 2 0 302186 chr17 1839820 1839820 C G rs534972727 RTN4RL1 Nonsynonymous SNV W432C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 302187 chrX 118145844 118145844 C T rs766890462 LONRF3 Synonymous SNV H532H 0 0 0.007 0 0 0 0 2 0 0 1 0 11.32 302188 chrX 118221057 118221057 G A rs200034820 KIAA1210 Nonsynonymous SNV S1379F 0 0 0.007 0 0 0 0 2 0 0 1 0 24 302189 chr2 128047304 128047304 G A rs145830873 ERCC3 Synonymous SNV A206A 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 9.87 302190 chr2 136602198 136602198 T C MCM6 Nonsynonymous SNV I756V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 302191 chrX 38268219 38268219 C G rs72558451 OTC Nonsynonymous SNV Q270E 0 0 0.007 0 0 0 0 2 0 0 1 0 Uncertain significance 23.2 302192 chrX 39932564 39932564 C T rs144722432 BCOR Nonsynonymous SNV V679I 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 23.9 302193 chr12 85264414 85264414 A G rs757190190 SLC6A15 Synonymous SNV F339F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.987 302194 chrX 48324672 48324672 G A rs369174607 SLC38A5 Synonymous SNV F119F 0 0 0.007 0 0 0 0 2 0 0 1 0 14.82 302195 chrX 48324673 48324673 A T SLC38A5 Nonsynonymous SNV F119Y 0 0 0.007 0 0 0 0 2 0 0 1 0 23.5 302196 chr2 85024715 85024715 A T DNAH6 Nonsynonymous SNV E3805V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 302197 chr2 85039617 85039617 C G rs375640782 DNAH6 Synonymous SNV V3964V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 302198 chr17 33475379 33475379 C T rs150050433 UNC45B Synonymous SNV L33L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 302199 chrX 49088352 49088352 G T rs782372812 CACNA1F Synonymous SNV G21G 0 0 0.007 0 0 0 0 2 0 0 1 0 3.769 302200 chr12 92381490 92381490 A T rs896276342 LINC01619 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 302201 chrX 51150795 51150795 C T EZHIP Synonymous SNV G309G 0 0 0.007 0 0 0 0 2 0 0 1 0 6.004 302202 chr12 22680683 22680683 T A rs760855807 C2CD5 Synonymous SNV G107G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.99 302203 chrX 65824281 65824281 G A rs12837393 EDA2R Nonsynonymous SNV P112S 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 19.18 302204 chr22 17288643 17288643 T C XKR3 Synonymous SNV L107L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.686 302205 chrX 70885816 70885816 C T rs191289651 LOC100129291 0 0 0.007 0 0 0 0 2 0 0 1 0 2.774 302206 chr22 17618929 17618929 C T rs549185431 HDHD5 Synonymous SNV E388E 0 0 0 2 0 0 0.005 0 0 0 0 0 16.21 302207 chrX 70886424 70886424 C T rs190350161 LOC100129291 0 0 0.007 0 0 0 0 2 0 0 1 0 2.243 302208 chr12 26564318 26564318 A G rs779124990 ITPR2 Nonsynonymous SNV L2445S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.96 302209 chr17 34257674 34257674 A T rs772110798 RDM1 Nonsynonymous SNV W20R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 302210 chr12 26878649 26878649 T C rs760017814 ITPR2 Synonymous SNV Q71Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.398 302211 chr2 96970562 96970562 C G rs374762800 SNRNP200 Synonymous SNV R30R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.771 302212 chr17 36482729 36482729 G A rs750137958 GPR179 Synonymous SNV I2241I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 302213 chrY 16734454 16734454 A G NLGN4Y Nonsynonymous SNV Y152C 0 0 0.007 0 0 0 0 2 0 0 1 0 24.8 302214 chr10 100020884 100020884 C T LOXL4 Nonsynonymous SNV G153S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.22 302215 chr12 107391424 107391424 T C rs200755086 CRY1 Nonsynonymous SNV Y445C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 302216 chr10 101639668 101639668 T C rs200530625 DNMBP Nonsynonymous SNV N1115S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 302217 chr10 101673732 101673732 T C rs529958536 DNMBP Synonymous SNV T34T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.872 302218 chr12 109182880 109182880 G A SSH1 Synonymous SNV T678T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.478 302219 chr17 38100733 38100733 C A rs574956497 LRRC3C Synonymous SNV R192R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 302220 chr17 38100786 38100786 G C rs77647138 LRRC3C Synonymous SNV L209L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.395 302221 chr10 102768463 102768463 G A rs567692834 PDZD7 Nonsynonymous SNV R955W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.25 302222 chr10 103558716 103558716 T C rs571135509 OGA Synonymous SNV L511L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.075 302223 chr17 38636953 38636953 C G rs146051767 TNS4 Synonymous SNV A580A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 302224 chr10 103609566 103609566 C T ARMH3 Synonymous SNV E648E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 302225 chr17 38978526 38978526 C T rs141830953 KRT10 Synonymous SNV G104G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.569 302226 chr22 35819325 35819325 C T rs745454682 MCM5 Synonymous SNV F698F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 14.93 302227 chr10 112837887 112837887 C T rs776433091 ADRA2A Synonymous SNV L45L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 302228 chr3 113165516 113165516 C T rs145892348 SPICE1 Nonsynonymous SNV G812R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 302229 chr22 30768223 30768223 C T rs142435200 CCDC157 Nonsynonymous SNV T428M 0 0 0 2 0 0 0.005 0 0 0 0 0 24.2 302230 chr3 172365822 172365822 G A rs370462746 NCEH1 Nonsynonymous SNV A74V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 302231 chr22 31284318 31284318 A G rs768629185 OSBP2 Nonsynonymous SNV K15R 0 0 0 2 0 0 0.005 0 0 0 0 0 14 302232 chr10 118635689 118635689 C T rs201860890 ENO4 Synonymous SNV I485I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.09 302233 chr10 118738809 118738809 T C rs556454860 SHTN1 Synonymous SNV E23E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.347 302234 chr10 118969666 118969666 C T rs558023580 KCNK18 Synonymous SNV F337F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 302235 chr12 52941963 52941963 G A rs775655757 KRT71 Synonymous SNV A317A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.94 302236 chr10 124340407 124340407 C T rs144398329 DMBT1 Synonymous SNV S343S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.968 302237 chr10 127417581 127417581 C T rs12360198 EDRF1 Nonsynonymous SNV P268S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 302238 chr10 127456150 127456150 G A rs28381319 MMP21 Nonsynonymous SNV A454V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 302239 chr2 65480872 65480872 T C rs200556229 ACTR2 Synonymous SNV T153T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.042 302240 chr10 128851051 128851051 A G rs558883419 DOCK1 Nonsynonymous SNV I770V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 302241 chr10 129905238 129905238 T A rs545138743 MKI67 Synonymous SNV P1262P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.316 302242 chr22 39239336 39239336 G C NPTXR Synonymous SNV R176R 0 0 0 2 0 0 0.005 0 0 0 0 0 5.907 302243 chr22 39483100 39483100 A C rs369306100 APOBEC3G Nonsynonymous SNV D303A 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 302244 chr10 15197231 15197231 G C rs778482936 PPIAP30 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 302245 chr10 15559199 15559199 G T rs199977895 ITGA8 Synonymous SNV T1035T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.599 302246 chr3 28562495 28562495 C T rs761086627 ZCWPW2 Nonsynonymous SNV T204M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 302247 chr17 5437269 5437269 C T rs201197830 NLRP1 Synonymous SNV T970T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.54 302248 chr3 134077543 134077543 T C rs766178441 AMOTL2 Nonsynonymous SNV E765G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 302249 chr22 50211889 50211889 G A rs116302664 BRD1 Nonsynonymous SNV R504W 0 0 0 2 0 0 0.005 0 0 0 0 0 0.649 302250 chr22 50278455 50278455 A T rs139902588 ZBED4 Nonsynonymous SNV E382V 0 0 0 2 0 0 0.005 0 0 0 0 0 16.57 302251 chr17 61432500 61432500 G C rs750676383 TANC2 Synonymous SNV R703R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.284 302252 chr13 41941639 41941639 T C rs764102866 NAA16 Nonsynonymous SNV L535P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 302253 chr10 38242027 38242027 G A rs752988255 ZNF25 Synonymous SNV L133L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.394 302254 chr10 43623573 43623573 G A rs878855062 RET Synonymous SNV P1067P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.11 302255 chr2 100210434 100210434 C T rs150835223 AFF3 Synonymous SNV P588P 0 0 0 2 0 0 0.005 0 0 0 0 0 8.989 302256 chr3 151165418 151165418 G A rs768439696 IGSF10 Nonsynonymous SNV T784I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.345 302257 chr17 66538943 66538943 C T FAM20A Nonsynonymous SNV D274N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302258 chr2 10262978 10262978 A C rs747010999 RRM2 Nonsynonymous SNV Q18P 0 0 0 2 0 0 0.005 0 0 0 0 0 13.88 302259 chr10 49448437 49448437 C T rs189536745 FRMPD2 Synonymous SNV A198A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 302260 chr10 49939450 49939450 G A rs371231718 WDFY4 Synonymous SNV K475K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.017 302261 chr12 101682775 101682775 A G rs555371440 UTP20 Nonsynonymous SNV I185V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.66 302262 chr12 103238124 103238124 C - rs62516094 PAH G352Vfs*48 0 0.003 0 0 0 1 0 0 0 0 0 0 302263 chr12 103700113 103700113 T C rs140856141 C12orf42 Synonymous SNV E90E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 302264 chr3 158983111 158983111 C G rs758260963 IQCJ Nonsynonymous SNV D106E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 302265 chr10 50678783 50678783 C T rs574011598 ERCC6 Nonsynonymous SNV A1075T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.029 302266 chr10 50819182 50819182 T C rs8175353 SLC18A3 Synonymous SNV A132A 0.001 0 0.007 0 1 0 0 2 0 0 1 0 6.312 302267 chr10 53458721 53458721 C T rs866466836 CSTF2T Nonsynonymous SNV V197I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 302268 chr10 5979144 5979144 G A rs748371990 FBH1 Synonymous SNV A1011A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 302269 chr2 231115727 231115727 T C rs759012914 SP140 Synonymous SNV D310D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.01 302270 chr10 61946505 61946505 C T rs149876045 ANK3 Nonsynonymous SNV G668S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.492 302271 chr3 121648190 121648190 C T rs759115793 SLC15A2 Synonymous SNV T485T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 302272 chr10 64968915 64968915 G A rs754472073 JMJD1C Synonymous SNV V706V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.71 302273 chr12 112471090 112471090 G A rs12298022 NAA25 Synonymous SNV L915L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.15 302274 chr10 70333539 70333539 A C rs570151139 TET1 Nonsynonymous SNV N482H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.778 302275 chr12 114386667 114386667 T C rs754778947 RBM19 Nonsynonymous SNV E416G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 302276 chr17 73945859 73945859 G A rs200608977 ACOX1 Nonsynonymous SNV T435I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.63 302277 chr2 12863419 12863419 G T rs140143213 TRIB2 Nonsynonymous SNV A102S 0 0 0 2 0 0 0.005 0 0 0 0 0 20.5 302278 chr12 120651683 120651683 G A rs747281175 PXN Nonsynonymous SNV L505F 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 302279 chr17 74524692 74524692 G A rs757473237 CYGB Nonsynonymous SNV P181S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 302280 chr17 75878242 75878243 TG - rs750976165 LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 302281 chr10 74916135 74916135 G A rs373650322 ECD Nonsynonymous SNV T163I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.837 302282 chr10 75265312 75265312 G A rs539646560 PPP3CB-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.497 302283 chr10 87362427 87362427 C T rs370837031 GRID1 Nonsynonymous SNV R878Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 302284 chr2 152698456 152698456 C T rs760757262 CACNB4 Synonymous SNV T324T 0 0 0 2 0 0 0.005 0 0 0 0 0 14.53 302285 chr2 15467996 15467996 T C NBAS 0 0 0 2 0 0 0.005 0 0 0 0 0 19.33 302286 chr10 94223744 94223744 G A rs535825881 IDE Synonymous SNV S280S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 302287 chr3 58835135 58835135 C G C3orf67 Nonsynonymous SNV G477R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 302288 chr10 95372953 95372953 T G rs76999928 PDE6C Nonsynonymous SNV D157E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21 302289 chr12 132416731 132416731 G A PUS1 Synonymous SNV G77G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.86 302290 chr10 96535263 96535263 C T rs142974781 CYP2C19 Nonsynonymous SNV R150C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 302291 chr10 96540292 96540292 C T rs61311738 CYP2C19 Nonsynonymous SNV A173V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 302292 chr10 96602751 96602751 C T rs150933530 CYP2C19 Synonymous SNV D373D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.3 302293 chr10 99969403 99969403 G A rs574187705 R3HCC1L Nonsynonymous SNV S511N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.398 302294 chr2 172305219 172305219 A G rs776877044 DCAF17 Nonsynonymous SNV Y117C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 302295 chr13 25267027 25267027 T G rs74643383 ATP12A Nonsynonymous SNV I463S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 302296 chr2 176987794 176987794 G A rs201091824 HOXD9 Nonsynonymous SNV V100I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 302297 chr3 42251361 42251361 A G TRAK1 Nonsynonymous SNV D542G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 302298 chr3 164907435 164907435 C T rs375753103 SLITRK3 Nonsynonymous SNV R395Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 302299 chr13 32914132 32914132 T G rs11571657 BRCA2 Nonsynonymous SNV N1880K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.64 302300 chr11 101765628 101765628 G A rs149099147 ANGPTL5 Nonsynonymous SNV R277W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 302301 chr18 28916517 28916517 T C rs752724560 DSG1 Synonymous SNV D402D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 302302 chr18 28991294 28991294 C T rs759038831 DSG4 Synonymous SNV A765A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 302303 chr2 196593001 196593001 T G SLC39A10 Stop gain Y755X 0 0 0 2 0 0 0.005 0 0 0 0 0 36 302304 chr13 52440191 52440191 T C rs779277786 CCDC70 Nonsynonymous SNV L215P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 302305 chr18 34901815 34901815 C T rs41482751 CELF4 Synonymous SNV A133A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 302306 chr18 5398094 5398094 T C EPB41L3 Nonsynonymous SNV S631G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.52 302307 chr11 119058340 119058340 C T rs776868045 PDZD3 Synonymous SNV P196P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 302308 chr18 5891746 5891746 C T rs200072155 TMEM200C Nonsynonymous SNV S106N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.405 302309 chr13 109793342 109793342 G A rs865918578 MYO16 Synonymous SNV T1594T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 10.17 302310 chr18 61233925 61233925 C A SERPINB12 Nonsynonymous SNV P320H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 302311 chr13 111144496 111144496 T C rs769995292 COL4A2 Synonymous SNV D1178D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.247 302312 chr4 169196528 169196528 T G DDX60 Synonymous SNV R758R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.798 302313 chr2 216271117 216271117 C T rs765674786 FN1 Nonsynonymous SNV V944I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 302314 chr2 218682462 218682462 G A rs187403005 TNS1 Synonymous SNV T1406T 0 0 0 2 0 0 0.005 0 0 0 0 0 9.989 302315 chr11 124440250 124440250 C T rs774975869 OR8A1 Nonsynonymous SNV P79S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 302316 chr14 21899014 21899014 C T CHD8 Synonymous SNV G263G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 302317 chr14 21929439 21929439 G A rs145245060 RAB2B Synonymous SNV P143P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.1 302318 chr11 126174008 126174008 G A rs554430727 DCPS Synonymous SNV R11R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.578 302319 chr14 21992393 21992393 A G SALL2 Nonsynonymous SNV L488P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 302320 chr11 126969323 126969323 G A rs755181562 LOC101929473 0 0 0.003 0 0 0 0 1 0 0 0 0 1.443 302321 chr11 1271826 1271826 C T rs2943514 MUC5B Synonymous SNV T4572T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.119 302322 chr11 128709347 128709347 C T rs567888166 KCNJ1 Synonymous SNV A283A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.38 302323 chr11 17596458 17596458 C T OTOG Nonsynonymous SNV R841W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 302324 chr14 24606746 24606746 A G PSME1 Synonymous SNV E88E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.308 302325 chr11 18418442 18418442 C G rs537487381 LDHA Nonsynonymous SNV T18S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 302326 chr2 233321922 233321922 G A rs530040682 ALPI Nonsynonymous SNV A180T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.1 302327 chr14 35343651 35343651 G T LOC112268124 0 0.003 0 0 0 1 0 0 0 0 0 0 8.814 302328 chr11 20673878 20673878 A G rs143918578 SLC6A5 Nonsynonymous SNV Y471C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.3 302329 chr14 50579404 50579404 G A rs370940506 VCPKMT Nonsynonymous SNV P202S 0 0.003 0.007 0 0 1 0 2 0 0 1 0 25.6 302330 chr11 26582751 26582751 G A rs201218745 MUC15 Nonsynonymous SNV P266L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 302331 chr11 2683252 2683252 C T rs17215465 KCNQ1 Synonymous SNV F485F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.94 302332 chr11 2683329 2683329 C T rs12577654 KCNQ1OT1 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.737 302333 chr14 52977993 52977993 G C rs201434300 TXNDC16 Nonsynonymous SNV H236D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.22 302334 chr11 3249231 3249231 C T rs563451186 MRGPRE Nonsynonymous SNV V267I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 302335 chr4 148802995 148802995 G A rs138388284 ARHGAP10 Nonsynonymous SNV G316R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 302336 chr11 3687459 3687459 C T rs756949177 CHRNA10 Nonsynonymous SNV A205T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 302337 chr11 3846680 3846680 C A PGAP2 Synonymous SNV R249R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 302338 chr11 40137548 40137548 A G LRRC4C Synonymous SNV L99L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.562 302339 chr4 151153491 151153491 A G rs376121966 DCLK2 Synonymous SNV E434E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.46 302340 chr11 4104559 4104559 C T rs199801171 STIM1 Synonymous SNV I435I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.85 302341 chr11 431856 431856 G T rs527852978 ANO9 Nonsynonymous SNV L153M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 302342 chr11 44289105 44289105 C T rs144440589 ALX4 Nonsynonymous SNV R282Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302343 chr19 18900087 18900087 A G rs757094319 COMP Nonsynonymous SNV F137S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 302344 chr19 1918182 1918182 G A rs775644869 SCAMP4 Nonsynonymous SNV G21R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 302345 chr4 15689091 15689092 AC - FAM200B T165Sfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 302346 chr3 142177927 142177927 C T rs754253403 ATR Nonsynonymous SNV R2395H 0.002 0 0 0 2 0 0 0 0 0 0 0 35 302347 chr2 27325229 27325229 C T CGREF1 Synonymous SNV Q72Q 0 0 0 2 0 0 0.005 0 0 0 0 0 15.67 302348 chr14 68352608 68352608 C T rs61755649 RAD51B Nonsynonymous SNV R159C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 302349 chr19 2251486 2251486 G C rs781584095 AMH Nonsynonymous SNV A405P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 302350 chr19 35136798 35136798 C A rs561839789 SCGB2B3P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.586 302351 chr2 42509994 42509994 A T rs376404127 EML4 Nonsynonymous SNV N217Y 0 0 0 2 0 0 0.005 0 0 0 0 0 28.5 302352 chr2 42994624 42994624 C T HAAO Nonsynonymous SNV A272T 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 302353 chr19 36004046 36004046 T C rs760542399 DMKN Nonsynonymous SNV H111R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 302354 chr11 5410937 5410937 T G rs200467703 OR51M1 Nonsynonymous SNV S103R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 302355 chr19 36912516 36912516 G A rs149569853 LOC644189 0 0 0.003 0 0 0 0 1 0 0 0 0 7.431 302356 chr11 55541198 55541198 T C rs751129420 OR5D13 Synonymous SNV S95S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 302357 chr11 55541761 55541761 C T rs140938722 OR5D13 Nonsynonymous SNV A283V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 302358 chr2 55463935 55463935 T C rs749656515 MTIF2 Nonsynonymous SNV H678R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 302359 chr19 3752892 3752892 G A APBA3 Nonsynonymous SNV H370Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.326 302360 chr11 55703767 55703767 T C rs749855755 OR5I1 Nonsynonymous SNV Y37C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 302361 chr19 38103379 38103379 C G ZNF540 Nonsynonymous SNV R368G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 302362 chr11 55735371 55735371 A G rs373001674 OR10AG1 Nonsynonymous SNV V190A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.041 302363 chr19 38160105 38160105 G A rs372905394 ZNF781 Synonymous SNV V315V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.001 302364 chr11 56043475 56043477 ACC - rs768573886 OR5T1 T122del 0 0 0.003 0 0 0 0 1 0 0 0 0 302365 chr4 39226528 39226528 A C WDR19 Nonsynonymous SNV I342L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 302366 chr15 78305338 78305338 C T rs376590157 TBC1D2B Synonymous SNV A699A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.84 302367 chr4 145567934 145567934 G A HHIP Nonsynonymous SNV R36K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 302368 chr11 56185228 56185228 C T rs748650099 OR5R1 Nonsynonymous SNV V161I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 302369 chr11 56310016 56310016 A G rs558342279 OR5M11 Nonsynonymous SNV C240R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 302370 chr14 105398143 105398143 C T rs183124456 PLD4 Nonsynonymous SNV A333V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 302371 chr14 105945973 105945973 G A rs782214229 CRIP2 Nonsynonymous SNV G83S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.82 302372 chr15 23006401 23006401 - TCT rs750322636 NIPA2 K281_D282insE 0 0.003 0 0 0 1 0 0 0 0 0 0 302373 chr15 23892606 23892606 A G rs941262401 MAGEL2 Nonsynonymous SNV L95P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.342 302374 chr19 44001987 44001987 A C rs762290912 PHLDB3 Synonymous SNV G192G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.112 302375 chr11 57135570 57135570 C T rs200102602 P2RX3 Synonymous SNV Y310Y 0 0 0.007 0 0 0 0 2 0 0 1 0 12.57 302376 chr4 166929162 166929162 C G TLL1 Nonsynonymous SNV F293L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 302377 chr3 38035855 38035855 A C rs780630829 VILL Nonsynonymous SNV Q80P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 302378 chr11 58978192 58978192 G A rs201054934 MPEG1 Nonsynonymous SNV A716V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.35 302379 chr11 5922377 5922377 G A rs550260945 OR52E5 Nonsynonymous SNV R128H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 302380 chr19 4538725 4538725 C A LRG1 Nonsynonymous SNV A91S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 302381 chr3 105572414 105572414 A G CBLB Nonsynonymous SNV I116T 0 0 0 2 0 0 0.005 0 0 0 0 0 25.5 302382 chr19 45488543 45488543 G A rs139922480 CLPTM1 Synonymous SNV A204A 0.001 0 0.007 0 1 0 0 2 0 0 0 0 13.06 302383 chr15 41795054 41795054 C T rs61757104 ITPKA Synonymous SNV H393H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 19.78 302384 chr11 608947 608947 G A rs542470878 PHRF1 Nonsynonymous SNV R1164Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 302385 chr11 60901569 60901569 C T rs151214498 VPS37C Synonymous SNV S68S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.542 302386 chr11 61252262 61252262 C T rs564949042 PPP1R32 Nonsynonymous SNV P162S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.163 302387 chr11 61643912 61643912 G A FADS3 Synonymous SNV H333H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.629 302388 chr15 42178194 42178194 T A rs748766365 SPTBN5 Nonsynonymous SNV Q420L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 302389 chr19 46914613 46914613 G A rs200336737 CCDC8 Synonymous SNV R485R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.608 302390 chr19 46973026 46973026 C A rs45532538 PNMA8A Nonsynonymous SNV A423S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 302391 chr11 61977953 61977953 T C rs200853592 SCGB2A1 Nonsynonymous SNV Y42H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 302392 chr11 63594569 63594569 C T rs114771289 SPINDOC Synonymous SNV S368S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.533 302393 chr4 3441259 3441259 G A rs150159451 RGS12 Nonsynonymous SNV G750R 0.002 0 0 0 2 0 0 0 0 0 0 0 17.88 302394 chr11 64564992 64564992 C T rs201248836 MAP4K2 Nonsynonymous SNV R384Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.32 302395 chr3 47164384 47164384 T G SETD2 Nonsynonymous SNV E537A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 302396 chr4 8417683 8417683 C T rs139211797 ACOX3 Nonsynonymous SNV R63H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.123 302397 chr16 1401744 1401744 G - TSR3 P21Rfs*78 0.001 0 0 1 1 0 0.003 0 0 0 0 0 302398 chr19 50212096 50212096 G A rs769102069 CPT1C Synonymous SNV Q522Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 302399 chr4 89319298 89319298 C T rs776165766 HERC6 Synonymous SNV F343F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 302400 chr15 59113966 59113966 G A rs200349898 MINDY2 Synonymous SNV V391V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.31 302401 chr11 6579923 6579923 G A rs375855514 DNHD1 Nonsynonymous SNV G3071S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.3 302402 chr11 65810757 65810757 G A rs747191605 GAL3ST3 Nonsynonymous SNV R173W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 302403 chr11 66052973 66052973 T C rs550537586 YIF1A Nonsynonymous SNV T174A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 302404 chr3 128780924 128780924 C T rs887132252 GP9 Synonymous SNV A114A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.71 302405 chr11 66084195 66084195 C T CD248 Nonsynonymous SNV G102S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 302406 chr15 64967174 64967174 G A rs146607434 ZNF609 Synonymous SNV K707K 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.597 302407 chr3 52643410 52643410 A G PBRM1 Nonsynonymous SNV V829A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 302408 chr4 55140771 55140771 C A PDGFRA Synonymous SNV V544V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 302409 chr15 65863922 65863922 T C rs766200645 HACD3 Synonymous SNV D270D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.637 302410 chr11 68213965 68213965 A G rs201030241 LRP5 Nonsynonymous SNV Y936C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 302411 chr3 54905564 54905564 A C CACNA2D3 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 302412 chr19 5244038 5244038 C T rs771439798 PTPRS Nonsynonymous SNV D469N 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 302413 chr11 69482338 69482338 A G rs61756133 LTO1 Synonymous SNV N121N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.628 302414 chr11 70332468 70332468 C T rs550763283 SHANK2 Synonymous SNV S722S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 302415 chr3 57543330 57543330 C T PDE12 Synonymous SNV D408D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.354 302416 chr3 130427338 130427338 T C PIK3R4 0 0 0 2 0 0 0.005 0 0 0 0 0 24.9 302417 chr11 71150068 71150068 C T rs747133004 DHCR7 Nonsynonymous SNV G230R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 302418 chr5 176931232 176931232 G T DOK3 Nonsynonymous SNV P359T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.637 302419 chr11 71671799 71671799 C T rs143381266 RNF121 Synonymous SNV V3V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 302420 chr5 177031436 177031436 G A B4GALT7 Nonsynonymous SNV E103K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 302421 chr15 72492831 72492831 G A rs185164430 PKM Synonymous SNV N417N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 302422 chr11 73008502 73008502 T A rs377684373 P2RY6 Nonsynonymous SNV H414Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 302423 chr11 73744494 73744494 T A rs371343891 C2CD3 Nonsynonymous SNV R2237S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.608 302424 chr15 74925045 74925045 T C rs149521552 EDC3 Nonsynonymous SNV I334V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.3 302425 chr15 75112974 75112974 A G rs148169854 LMAN1L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.528 302426 chr11 76256853 76256853 A G rs562233080 EMSY Nonsynonymous SNV I1097V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 302427 chr11 76419429 76419429 G A rs4622297 GUCY2EP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.217 302428 chr5 130726695 130726695 A C rs778624523 CDC42SE2 Nonsynonymous SNV I56L 0.001 0 0 0 1 0 0 0 0 0 0 0 21 302429 chr11 76432757 76432757 T C rs1941601 GUCY2EP 0 0 0.003 0 0 0 0 1 0 0 0 0 1.94 302430 chr11 788439 788439 G A rs150121776 CEND1 Synonymous SNV A46A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.482 302431 chr19 54967408 54967408 C T rs75472495 LENG8 Nonsynonymous SNV R430C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 302432 chr5 32126511 32126511 C T rs192633198 GOLPH3 Nonsynonymous SNV R235H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 302433 chr11 82645267 82645267 C T rs200700047 DDIAS Nonsynonymous SNV L963F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.818 302434 chr5 138283012 138283012 G A rs758831626 SIL1 Nonsynonymous SNV R394C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 302435 chr19 55549587 55549587 G A rs199807828 GP6 Synonymous SNV T6T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 302436 chr19 55857984 55857984 G A KMT5C Nonsynonymous SNV G275D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 302437 chr11 93844108 93844108 C T rs201995404 HEPHL1 Nonsynonymous SNV P1029S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 302438 chr19 56320924 56320924 C T rs140988779 NLRP11 Nonsynonymous SNV R252Q 0 0 0.007 0 0 0 0 2 0 0 0 0 2.554 302439 chr15 90176456 90176456 C T rs1046105811 KIF7 Synonymous SNV K878K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.76 302440 chr3 183907468 183907468 A G ABCF3 Nonsynonymous SNV I407V 0.003 0.003 0 0 3 1 0 0 0 0 0 0 12.32 302441 chr12 100552636 100552636 T C rs562493932 GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 302442 chr19 56539701 56539701 G T rs760369062 NLRP5 Nonsynonymous SNV R701L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.215 302443 chr5 140778344 140778344 G A PCDHGB5 Nonsynonymous SNV G217D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 302444 chr12 104123924 104123924 A G rs200802359 STAB2 Nonsynonymous SNV I1705V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.478 302445 chr15 93536206 93536206 G A rs79219767 CHD2 Synonymous SNV Q1191Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 9.749 302446 chr12 108133127 108133127 G A rs369100606 LOC101929162 0 0 0.003 0 0 0 0 1 0 0 0 0 8.662 302447 chr12 108912411 108912411 A C rs558604994 FICD Nonsynonymous SNV N179T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 302448 chr12 111342443 111342443 G A rs146312173 CCDC63 Nonsynonymous SNV R386H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 302449 chr5 149431387 149431387 C T rs542312116 HMGXB3 Nonsynonymous SNV R1005C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 302450 chr16 66516788 66516791 CTCA - rs767911472 BEAN1 T42Sfs*168 0 0 0 1 0 0 0.003 0 0 0 0 0 302451 chr16 67221707 67221707 A G rs757230739 EXOC3L1 Nonsynonymous SNV I154T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 302452 chr16 67876826 67876826 G A rs3982383 THAP11 Synonymous SNV Q123Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 302453 chr19 6755228 6755228 T C rs139285655 SH2D3A Nonsynonymous SNV R199G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 302454 chr12 113354419 113354419 G A rs541940421 OAS1 Nonsynonymous SNV G254R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 302455 chr16 1255204 1255204 G A rs374272094 CACNA1H Nonsynonymous SNV G848S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.2 302456 chr16 1263907 1263907 C T rs558820781 CACNA1H Synonymous SNV S1629S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 302457 chr19 6963817 6963817 A T rs201520460 ADGRE4P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.57 302458 chr12 113405292 113405292 C T rs539747098 OAS3 Nonsynonymous SNV A920V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 302459 chr12 113530970 113530970 C T rs113004114 DTX1 Synonymous SNV V315V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 302460 chr5 7892883 7892883 A G MTRR Nonsynonymous SNV I472V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 302461 chr12 120135612 120135612 T A rs754065048 CIT Nonsynonymous SNV N1870Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 302462 chr12 121858434 121858434 C T RNF34 Nonsynonymous SNV L69F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 302463 chr16 2086484 2086484 G A rs200328877 SLC9A3R2 Nonsynonymous SNV A81T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.05 302464 chr16 2819196 2819196 G C rs150110237 SRRM2 Synonymous SNV S2644S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.768 302465 chr12 123435011 123435011 G A rs749580386 ABCB9 Synonymous SNV L235L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 302466 chr12 124103279 124103279 A G rs775360332 DDX55 Nonsynonymous SNV M410V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.94 302467 chr16 3139353 3139353 C A ZSCAN10 Synonymous SNV T300T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.27 302468 chr12 124268709 124268709 G A rs758334070 DNAH10 Synonymous SNV V344V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.982 302469 chr12 125397553 125397553 T C rs116167503 UBC Synonymous SNV K255K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.224 302470 chr12 125397565 125397565 G A rs540807529 UBC Synonymous SNV I251I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.766 302471 chr16 4410339 4410339 C T rs773671001 CORO7, CORO7-PAM16 Nonsynonymous SNV R598H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 302472 chr19 9062183 9062183 G C rs118104593 MUC16 Synonymous SNV T8421T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.566 302473 chr12 132688167 132688167 C T rs117160424 GALNT9 Synonymous SNV R16R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 302474 chr12 133225984 133225984 C T rs563990655 POLE Nonsynonymous SNV G1305R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.71 302475 chr12 133430108 133430108 C T rs563852229 CHFR Synonymous SNV A347A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 302476 chr5 178359123 178359123 A G rs573628416 ZFP2 Nonsynonymous SNV Y270C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 302477 chr12 18762524 18762524 T C rs537772119 PIK3C2G Synonymous SNV D1340D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.905 302478 chr16 15677028 15677028 C T rs143032200 BMERB1 Synonymous SNV D128D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 302479 chr16 20797418 20797418 T G rs767483367 ACSM3 Nonsynonymous SNV F388V 0 0.003 0 0 0 1 0 0 0 0 0 0 25 302480 chr12 25679746 25679746 C T rs553205140 LMNTD1 Nonsynonymous SNV R128Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.84 302481 chr12 26218197 26218197 G A rs79553120 RASSF8 Synonymous SNV E290E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.11 302482 chr1 109811892 109811892 C A rs773220966 CELSR2 Nonsynonymous SNV D2264E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 302483 chr16 21136657 21136657 G A rs372987187 DNAH3 Nonsynonymous SNV R415W 0 0.003 0 0 0 1 0 0 0 0 0 0 13.97 302484 chr16 23113657 23113657 - CTTCAGGCCTAAATATTT rs753479028 USP31 E405_G406insEIFRPE 0 0.003 0 0 0 1 0 0 0 0 0 0 302485 chr5 34007971 34007971 A G rs121917814 AMACR Nonsynonymous SNV S52P 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 29.7 302486 chr5 149389866 149389866 C T rs749619104 HMGXB3 Nonsynonymous SNV P169S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 302487 chr1 11115969 11115969 G A SRM Synonymous SNV L212L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 302488 chr5 35776482 35776482 T G SPEF2 Nonsynonymous SNV L1401W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 302489 chr5 151043024 151043024 G A SPARC Synonymous SNV L340L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 302490 chr12 4854744 4854744 C T rs199920896 GALNT8 Nonsynonymous SNV A337V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.053 302491 chr12 49783547 49783547 G A rs563438894 LOC100335030 0 0 0.003 0 0 0 0 1 0 0 0 0 0.238 302492 chr12 50304565 50304565 C T rs549651102 LINC02396 0 0 0.003 0 0 0 0 1 0 0 0 0 8.34 302493 chr12 50500108 50500108 C T rs184522376 GPD1 Nonsynonymous SNV S110L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302494 chr12 51492589 51492589 T C rs149098520 TFCP2 Synonymous SNV P412P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.687 302495 chr12 5153498 5153530 CGGGAGTGCGGCCCTTGCCTCCGCTGCCGGACC - rs144879674 KCNA5 D72_P82del 0 0 0.003 0 0 0 0 1 0 0 0 0 302496 chr1 12202378 12202378 C T rs142351498 TNFRSF8 Synonymous SNV I414I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 302497 chr12 52307463 52307463 G A rs200169087 ACVRL1 Nonsynonymous SNV R145Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 302498 chr12 53002178 53002178 G A KRT73 Synonymous SNV S475S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.187 302499 chr12 53007382 53007382 G A rs116330890 KRT73-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.314 302500 chr3 56667593 56667593 C T rs200064504 TASOR Nonsynonymous SNV E639K 0 0 0 2 0 0 0.005 0 0 0 0 0 23 302501 chr12 53722371 53722371 C T rs561083858 SP7 Synonymous SNV A285A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 302502 chr16 67380158 67380158 G T rs773211386 LRRC36 0 0.003 0 0 0 1 0 0 0 0 0 0 24 302503 chr16 67979079 67979079 T C rs779627553 SLC12A4 Nonsynonymous SNV N1028S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 302504 chr12 54799682 54799682 C T rs200642938 ITGA5 Nonsynonymous SNV R312Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.67 302505 chr1 151786040 151786040 G A rs61754474 RORC Synonymous SNV Y309Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.57 302506 chr12 55641538 55641538 C T rs569390738 OR6C74 Nonsynonymous SNV P156L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 302507 chr12 55725666 55725666 G A rs372567255 OR6C3 Nonsynonymous SNV R61Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 302508 chr16 70507214 70507214 C T rs201801842 FCSK Nonsynonymous SNV R579C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.98 302509 chr16 70508160 70508160 C T rs768950026 FCSK Nonsynonymous SNV R636W 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 302510 chr12 55968902 55968902 C G rs546712883 OR2AP1 Nonsynonymous SNV A235G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 302511 chr3 73111422 73111422 G A rs376896494 EBLN2 Nonsynonymous SNV A64T 0 0 0 2 0 0 0.005 0 0 0 0 0 10.64 302512 chr5 180037011 180037011 A C FLT4 Nonsynonymous SNV V1234G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 302513 chr16 71570802 71570802 C T rs781070454 CHST4 Synonymous SNV P74P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.81 302514 chr16 72166683 72166683 T C rs766299966 PMFBP1 Nonsynonymous SNV S471G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.028 302515 chr1 155152364 155152364 C T rs148757333 TRIM46 Synonymous SNV Y388Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.826 302516 chr12 57883741 57883741 C T rs117101415 MARS Synonymous SNV P159P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.36 302517 chr12 57905612 57905612 A G rs2290297 MARS Synonymous SNV K500K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.292 302518 chr12 57906592 57906592 G A rs117633211 MARS Synonymous SNV G604G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.83 302519 chr12 57919407 57919407 C T rs759983542 MBD6 Nonsynonymous SNV A219V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 302520 chr12 58022577 58022577 G A rs766516862 B4GALNT1 Synonymous SNV T252T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 302521 chr3 9793525 9793525 G A rs561386610 OGG1 Nonsynonymous SNV A153T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.05 302522 chr3 98451761 98451761 G A rs1026904497 ST3GAL6 Synonymous SNV Q18Q 0 0 0 1 0 0 0.003 0 0 0 0 0 8.107 302523 chr12 6427075 6427075 G T rs71584814 PLEKHG6 Nonsynonymous SNV G325V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 302524 chr5 80628348 80628348 T G rs143972820 ACOT12 Nonsynonymous SNV K447Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 302525 chr12 65564286 65564286 G T rs551985147 LEMD3 Nonsynonymous SNV G304C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 302526 chr12 66698658 66698658 A G rs551475760 HELB Nonsynonymous SNV Y112C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 302527 chr12 675134 675134 C T rs140817733 NINJ2 Nonsynonymous SNV V75I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 302528 chr12 68707234 68707234 C T MDM1 Nonsynonymous SNV D290N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 302529 chr12 7015712 7015712 C T LRRC23 Stop gain R126X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 302530 chr12 75692552 75692552 A G rs376920121 CAPS2 Nonsynonymous SNV V202A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.647 302531 chr1 161039396 161039396 C T ARHGAP30 Nonsynonymous SNV G7R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 302532 chr4 113538886 113538886 T A ZGRF1 Nonsynonymous SNV K771M 0 0 0 2 0 0 0.005 0 0 0 0 0 19.57 302533 chr6 100966007 100966007 G A rs766657659 ASCC3 Synonymous SNV D1929D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 302534 chr4 140216245 140216245 C G NDUFC1 Nonsynonymous SNV W41C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 302535 chr12 80182510 80182510 C T rs551485179 PPP1R12A Nonsynonymous SNV R851H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302536 chr1 162725036 162725036 A T rs201573606 DDR2 Nonsynonymous SNV T170S 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 302537 chr12 8211921 8211921 A G rs377091931 C3AR1 Synonymous SNV D287D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 302538 chr12 85257368 85257368 G A rs147194848 SLC6A15 Synonymous SNV D449D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.75 302539 chr12 89918286 89918286 A G GALNT4 Nonsynonymous SNV L14P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 302540 chr12 9010558 9010558 A G rs565930773 A2ML1 Nonsynonymous SNV T551A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.64 302541 chr12 98850786 98850786 C G rs146404880 SLC9A7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.281 302542 chr4 144621522 144621522 G A FREM3 Synonymous SNV L103L 0 0 0 2 0 0 0.005 0 0 0 0 0 8.587 302543 chr4 152201045 152201045 C T PRSS48 Synonymous SNV N50N 0 0 0 2 0 0 0.005 0 0 0 0 0 4.445 302544 chr13 103389861 103389861 G C rs578137692 CCDC168 Nonsynonymous SNV Q4396E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 302545 chr1 179338046 179338046 C T rs41267588 AXDND1 Nonsynonymous SNV A70V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 24.7 302546 chr13 110436296 110436296 - CGGCGGCGGCGG IRS2 A701_V702insAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 302547 chr6 135518137 135518137 C T MYB Synonymous SNV F414F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 302548 chr13 111111123 111111123 G A rs561067393 COL4A2 Nonsynonymous SNV A480T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.309 302549 chr4 15689253 15689253 G A FAM200B Nonsynonymous SNV R218H 0 0 0 2 0 0 0.005 0 0 0 0 0 18.7 302550 chr1 181688958 181688958 C T CACNA1E Synonymous SNV V570V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 302551 chr17 36552218 36552218 G A rs777101615 SOCS7 Synonymous SNV T645T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.48 302552 chr17 36872727 36872727 T C MLLT6 Nonsynonymous SNV S382P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.2 302553 chr13 114009892 114009892 C T rs570649633 GRTP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.273 302554 chr13 114009904 114009904 A G rs879097408 GRTP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.2 302555 chr17 2236293 2236293 C A rs993074630 TSR1 Nonsynonymous SNV D423Y 0 0.003 0 0 0 1 0 0 0 0 0 0 28.2 302556 chr17 38065216 38065216 G A rs150838130 GSDMB Nonsynonymous SNV T219M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.049 302557 chr13 21212594 21212594 G A rs551160953 IFT88 Nonsynonymous SNV A456T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 302558 chr17 3801122 3801122 T C rs34617528 P2RX1 Nonsynonymous SNV M396V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 0.286 302559 chr13 30077257 30077257 A G rs533395760 MTUS2 Nonsynonymous SNV I321V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.001 302560 chr17 4348380 4348380 C T rs150923668 SPNS3 Stop gain R107X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 302561 chr13 30106988 30106988 C A rs761070275 SLC7A1 Nonsynonymous SNV A168S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 302562 chr17 39197306 39197306 C T rs377608847 KRTAP1-1 Nonsynonymous SNV R115H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 302563 chr4 185615673 185615676 AAGG - rs573321368 PRIMPOL E392Kfs*48 0 0 0 2 0 0 0.005 0 0 0 0 0 302564 chr4 2597843 2597843 A G FAM193A Synonymous SNV T39T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 302565 chr17 4804153 4804153 G A rs770586668 CHRNE Synonymous SNV T284T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.67 302566 chr13 37011926 37011926 G A rs540179877 CCNA1 Nonsynonymous SNV R152K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 302567 chr13 39261816 39261816 A G rs767098305 FREM2 Nonsynonymous SNV N112S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.16 302568 chr13 41373473 41373473 T C rs74242792 TPTE2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 1.516 302569 chr13 41941736 41941736 A G rs372165289 NAA16 Synonymous SNV K567K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.256 302570 chr17 7213050 7213050 G T EIF5A Synonymous SNV V62V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.42 302571 chr13 49070345 49070345 C T rs9332054 RCBTB2 Synonymous SNV A225A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 302572 chr13 49781431 49781431 G A rs200658303 FNDC3A Nonsynonymous SNV R1110Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 302573 chr13 53286894 53286894 G A rs150210923 CNMD Synonymous SNV C193C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 302574 chr1 206680976 206680976 C T rs781952718 RASSF5 Nonsynonymous SNV P14L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 302575 chr17 8135442 8135442 G A rs770505786 CTC1 Nonsynonymous SNV P722S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 302576 chr13 67205409 67205409 G A rs372281341 PCDH9 Synonymous SNV D1015D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.703 302577 chr6 129959722 129959722 G T rs146587551 ARHGAP18 Nonsynonymous SNV F123L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 302578 chr13 67800810 67800810 T C rs561156017 PCDH9 Nonsynonymous SNV Y588C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 302579 chr13 73349350 73349350 A G rs371864555 DIS3 Nonsynonymous SNV M206T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.222 302580 chr17 42808333 42808333 G A rs762592762 DBF4B Nonsynonymous SNV V140M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.11 302581 chr13 80055588 80055588 C T rs764185387 NDFIP2 Nonsynonymous SNV L84F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 302582 chr13 95034787 95034787 C T rs200389469 GPC6 Synonymous SNV N424N 0 0 0.01 0 0 0 0 3 0 0 1 0 Benign/Likely benign 15.26 302583 chr17 9792977 9792977 C T rs372161070 GLP2R Synonymous SNV T539T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.24 302584 chr4 44631525 44631525 C A rs371366008 YIPF7 Nonsynonymous SNV L131F 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 302585 chr14 102508438 102508438 C T rs750249796 DYNC1H1 Nonsynonymous SNV T4064M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 302586 chr4 5823571 5823571 C T rs749553069 CRMP1 Synonymous SNV Q659Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.14 302587 chr6 26157082 26157082 C T H1-4 Nonsynonymous SNV P155L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 302588 chr14 104482368 104482368 G A rs141490953 TDRD9 Synonymous SNV P758P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 302589 chr17 17907794 17907794 G A rs774942430 DRC3 Nonsynonymous SNV V373M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 302590 chr6 28056919 28056919 T - ZNF165 C377Vfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 302591 chr14 105071031 105071031 C T rs758977025 TMEM179 Synonymous SNV L16L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 302592 chr14 105405917 105405917 C T rs563659098 AHNAK2 Nonsynonymous SNV E5191K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 302593 chr14 105518192 105518192 C T rs538957156 GPR132 Synonymous SNV T85T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 302594 chr17 18882139 18882139 C G FAM83G Synonymous SNV T280T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 302595 chr17 20013771 20013771 A G SPECC1 Nonsynonymous SNV N60S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.235 302596 chr14 20482624 20482624 T C rs376853696 OR4K14 Synonymous SNV A243A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 302597 chr14 21109549 21109549 G T rs577080351 OR6S1 Nonsynonymous SNV T101N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 302598 chr14 21551035 21551035 A C rs545335294 ARHGEF40 Nonsynonymous SNV K464Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 302599 chr17 70119709 70119709 A C SOX9 Synonymous SNV P237P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.294 302600 chr14 23853777 23853777 C T rs200854143 MYH6 Synonymous SNV Q1813Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.28 302601 chr1 242023871 242023871 A T rs201509012 EXO1 Nonsynonymous SNV D270V 0 0 0.007 0 0 0 0 2 0 0 0 0 26.8 302602 chr1 242121376 242121376 T G BECN2 Nonsynonymous SNV I103S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.891 302603 chr6 43019429 43019429 C T rs146982590 CUL7 Nonsynonymous SNV R302H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 302604 chr6 167755125 167755125 A G TTLL2 Nonsynonymous SNV I579M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 302605 chr17 34870967 34870967 G C rs201522618 MYO19 Synonymous SNV L202L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.361 302606 chr1 244855233 244855233 A G DESI2 Nonsynonymous SNV I55V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 302607 chr14 24970939 24970939 C G rs752947126 LOC101927045 0 0 0.003 0 0 0 0 1 0 0 0 0 1.76 302608 chr6 43307923 43307923 A T rs140244545 ZNF318 Synonymous SNV S1271S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 302609 chr14 36143790 36143790 T C rs202093770 RALGAPA1 Nonsynonymous SNV I1537V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 302610 chr5 39126145 39126145 C T rs199924788 FYB1 Nonsynonymous SNV R677Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 302611 chr6 45480010 45480010 C T rs201584115 RUNX2 Nonsynonymous SNV P282L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.4 302612 chr6 18465233 18465233 A G rs769859170 RNF144B Nonsynonymous SNV I283V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 302613 chr14 45369658 45369658 A C rs757675153 C14orf28 Nonsynonymous SNV E7A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 302614 chr14 50092386 50092386 G A rs140997181 DNAAF2 Synonymous SNV H748H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.133 302615 chr14 50647353 50647353 T C SOS2 Synonymous SNV S302S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.411 302616 chr6 26087718 26087718 C T rs143662783 HFE Nonsynonymous SNV T17I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 302617 chr5 112439913 112439913 G A rs200531341 MCC Synonymous SNV S199S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.79 302618 chr1 26584720 26584720 C G rs747304339 CEP85 Nonsynonymous SNV P324R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 302619 chr14 64450466 64450466 G A rs371320284 SYNE2 Synonymous SNV L671L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.821 302620 chr1 27623561 27623561 C G WDTC1 Synonymous SNV S324S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 302621 chr1 27874361 27874361 G A rs375964883 AHDC1 Synonymous SNV C1422C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.374 302622 chr14 64522680 64522680 T G rs550381432 SYNE2 Nonsynonymous SNV Y3255D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 302623 chr14 64529596 64529596 C T rs528064472 SYNE2 Nonsynonymous SNV R3399C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 302624 chr14 64625398 64625398 A G rs138797058 SYNE2 Nonsynonymous SNV D5283G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 302625 chr14 64653203 64653203 C A rs563482043 SYNE2 Nonsynonymous SNV A5873E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 302626 chr6 37138085 37138093 CACGAGCCC - PIM1 H6_P8del 0.001 0 0 0 1 0 0 0 0 0 0 0 302627 chr14 68265109 68265109 C T rs531152715 ZFYVE26 Nonsynonymous SNV A624T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.862 302628 chr14 73719431 73719431 C T rs375401303 PAPLN Nonsynonymous SNV R348W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 302629 chr14 73731013 73731013 G A rs145618706 PAPLN Nonsynonymous SNV D986N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.993 302630 chr14 74753399 74753399 G A rs370270229 ABCD4 Nonsynonymous SNV P323L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.21 302631 chr14 74764685 74764685 G A rs780802823 ABCD4 Nonsynonymous SNV R38W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302632 chr1 35476486 35476486 G C rs751065632 ZMYM6 Nonsynonymous SNV A405G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 302633 chr1 36563674 36563674 G A rs61733506 COL8A2 Synonymous SNV F471F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.374 302634 chr1 3673329 3673329 G A rs150537276 CCDC27 Nonsynonymous SNV E196K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 302635 chr14 75498814 75498814 G A rs372912259 MLH3 Nonsynonymous SNV P1238S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 302636 chr14 76165604 76165604 G T rs556212778 TTLL5 Synonymous SNV L192L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 302637 chr6 90393788 90393788 C T rs112839883 LOC101929057 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 302638 chr5 137219115 137219115 G A rs374221793 MYOT Nonsynonymous SNV G103R 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 32 302639 chr5 137673679 137673679 G A CDC25C Nonsynonymous SNV L56F 0 0 0 2 0 0 0.005 0 0 0 0 0 11.92 302640 chr6 43024142 43024142 G A rs148636906 MRPL2 Nonsynonymous SNV R103C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 302641 chr17 62049998 62049998 G A rs80266947 SCN4A Synonymous SNV Y68Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.168 302642 chr14 94568224 94568224 C T rs117094493 IFI27L1 Synonymous SNV A42A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 302643 chr14 94909466 94909466 T C rs550396257 SERPINA11 Synonymous SNV L338L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 302644 chr1 47048913 47048913 T C MKNK1 Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 302645 chr14 99723953 99723953 G T rs570461424 BCL11B Nonsynonymous SNV D93E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 302646 chr5 148691820 148691820 C T rs375190446 AFAP1L1 Nonsynonymous SNV T358M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.636 302647 chr1 47904266 47904266 C A FOXD2 Synonymous SNV I153I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 302648 chr15 24922007 24922007 G C NPAP1 Synonymous SNV S331S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 302649 chr15 25328575 25328575 G A rs545397267 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 2.726 302650 chr15 25936897 25936897 C T ATP10A Nonsynonymous SNV V1044M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 302651 chr15 28377935 28377935 A G rs200047478 HERC2 Nonsynonymous SNV I4091T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.1 302652 chr15 31795973 31795973 G A rs372840712 OTUD7A Synonymous SNV H314H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 302653 chr15 33010842 33010842 T C rs370617365 LOC100131315 0 0 0.003 0 0 0 0 1 0 0 0 0 9.149 302654 chr15 33010885 33010885 G A rs375373099 LOC100131315 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 302655 chr7 27282821 27282821 C A EVX1 Synonymous SNV R58R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 302656 chr15 38786634 38786634 T C rs767570897 RASGRP1 Synonymous SNV S701S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.395 302657 chr6 112462089 112462089 G A rs387907365 LAMA4 Nonsynonymous SNV P950L 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 33 302658 chr6 117710577 117710577 C G rs138192393 ROS1 Synonymous SNV S565S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.39 302659 chr15 42137188 42137188 G A rs767589504 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV A387T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.585 302660 chr6 129475762 129475762 T C rs756132239 LAMA2 Synonymous SNV N380N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.337 302661 chr15 42446362 42446362 A G rs677895 PLA2G4F Synonymous SNV S126S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 302662 chr15 42446398 42446398 G A rs677845 PLA2G4F Synonymous SNV L114L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.247 302663 chr15 42491848 42491848 A C rs2620381 MIR627 0 0 0.003 0 0 0 0 1 0 0 0 0 1.858 302664 chr15 42640302 42640302 T A rs79004308 GANC Nonsynonymous SNV I769N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 302665 chr5 169412904 169412904 G A DOCK2 Nonsynonymous SNV A991T 0 0 0 2 0 0 0.005 0 0 0 0 0 15.61 302666 chr5 169412905 169412905 C A DOCK2 Nonsynonymous SNV A991D 0 0 0 2 0 0 0.005 0 0 0 0 0 17.19 302667 chr15 42740827 42740827 T G rs573886693 ZNF106 Nonsynonymous SNV S22R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.896 302668 chr7 123264833 123264833 G T rs148904381 ASB15 Nonsynonymous SNV G221V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 302669 chr15 43483788 43483788 C G rs200466580 CCNDBP1 Nonsynonymous SNV R259G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 302670 chr15 43701109 43701109 T C rs375326449 TP53BP1 Synonymous SNV Q1860Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.33 302671 chr15 45399075 45399075 G A rs373790251 DUOX2 Nonsynonymous SNV P596S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.76 302672 chr15 45778914 45778914 T C rs201823030 SLC30A4 Nonsynonymous SNV I344V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.224 302673 chr15 51975585 51975585 C A rs2305709 SCG3 Synonymous SNV I117I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 302674 chr15 52017273 52017273 T C rs3751593 LYSMD2 Nonsynonymous SNV I16V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 302675 chr15 52200994 52200994 G A rs199520707 TMOD3 Nonsynonymous SNV G349E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 302676 chr17 79234108 79234108 T C SLC38A10 Synonymous SNV A406A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.125 302677 chr7 138264090 138264090 G A TRIM24 Nonsynonymous SNV G766R 0.002 0 0 0 2 0 0 0 0 0 0 0 33 302678 chr15 58983134 58983134 C G rs560006329 HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.231 302679 chr19 746613 746613 A G PALM Synonymous SNV Q277Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.203 302680 chr15 62214843 62214843 G A rs748601369 VPS13C Nonsynonymous SNV S2200L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 302681 chr1 93300404 93300404 T C rs113792800 RPL5 Synonymous SNV Y86Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.147 302682 chr15 62359960 62359960 T C C2CD4A Nonsynonymous SNV C50R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 302683 chr5 32090138 32090138 G A rs761389485 PDZD2 Nonsynonymous SNV R2195Q 0 0 0 2 0 0 0.005 0 0 0 0 0 6.899 302684 chr15 62456356 62456356 G C rs752594468 C2CD4B Nonsynonymous SNV F276L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.293 302685 chr15 62536045 62536045 C T rs148427155 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 2.256 302686 chr15 64204394 64204394 C T rs149186606 DAPK2 Synonymous SNV P287P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.608 302687 chr20 10023826 10023826 G A ANKEF1 Nonsynonymous SNV A135T 0 0 0.007 0 0 0 0 2 0 0 0 0 34 302688 chr20 1115876 1115876 C T rs141024057 PSMF1 Nonsynonymous SNV P72S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 302689 chr18 8387119 8387119 C T rs148525659 PTPRM Nonsynonymous SNV P1352L 0 0.003 0 0 0 1 0 0 0 0 0 0 35 302690 chr15 68937520 68937520 C T rs766059041 CORO2B Nonsynonymous SNV R8C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302691 chr20 1532407 1532407 G T rs376805676 SIRPD Stop gain C117X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302692 chr15 74427075 74427075 - GGCGGCGAGGCG ISLR2 E667_E668insAGGE 0 0 0.003 0 0 0 0 1 0 0 0 0 302693 chr15 74918299 74918299 C T rs200717265 CLK3 Synonymous SNV H417H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 302694 chr15 75043564 75043564 A G rs774252909 CYP1A2 Nonsynonymous SNV K289R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 302695 chr15 76576129 76576129 T C rs775620228 ETFA Synonymous SNV L185L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.856 302696 chr15 78927889 78927889 G A rs201949739 CHRNB4 Synonymous SNV D32D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 302697 chr15 79271448 79271448 G A rs528614086 LOC100129540 0 0 0.003 0 0 0 0 1 0 0 0 0 3.86 302698 chr15 80215146 80215146 C T rs77136548 ST20-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.092 302699 chr15 81582836 81582836 G A rs200730945 IL16 Nonsynonymous SNV E459K 0 0 0.003 0 0 0 0 1 0 0 0 0 28 302700 chr5 64954255 64954255 G C TRAPPC13 Nonsynonymous SNV E46Q 0 0 0 2 0 0 0.005 0 0 0 0 0 26.5 302701 chr6 26184308 26184308 C T rs143792250 H2BC6 Synonymous SNV I95I 0.002 0 0 0 2 0 0 0 0 0 0 0 15.25 302702 chr6 26189191 26189191 C T rs146262007 H4C4 Synonymous SNV L38L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.064 302703 chr15 85382322 85382322 T C ALPK3 Nonsynonymous SNV L341P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 302704 chr7 157985147 157985147 G A rs376829596 PTPRN2 Nonsynonymous SNV R103W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 302705 chr20 33345456 33345456 C T rs772242719 NCOA6 Synonymous SNV T365T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 302706 chr15 89388894 89388894 A G rs148070768 ACAN Nonsynonymous SNV I404V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 302707 chr15 89392689 89392689 C A rs144501729 ACAN Nonsynonymous SNV R585S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 302708 chr15 89392818 89392818 G A rs200412974 ACAN Nonsynonymous SNV A628T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 302709 chr15 89400963 89400963 G T rs79925540 ACAN Nonsynonymous SNV S1716I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 302710 chr15 89401616 89401616 G C rs76282091 ACAN Nonsynonymous SNV V1934L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.974 302711 chr20 37394118 37394118 C G rs749341643 ACTR5 Stop gain S417X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 302712 chr8 107696537 107696537 G A rs138903311 OXR1 Nonsynonymous SNV V152I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.919 302713 chr20 39798840 39798840 C T PLCG1 Synonymous SNV A913A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 302714 chr7 23826493 23826493 C T rs777588927 STK31 Nonsynonymous SNV P790S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 302715 chr15 93016285 93016286 GA - rs566200852 C15orf32 0 0 0.003 0 0 0 0 1 0 0 0 0 302716 chr20 48466210 48466210 T C rs185302403 SLC9A8 Nonsynonymous SNV L176P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 302717 chr20 55942133 55942133 G A rs766828256 RAE1 Nonsynonymous SNV V178M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 302718 chr6 43269998 43269998 C T rs760343501 SLC22A7 Synonymous SNV N372N 0.002 0 0 0 2 0 0 0 0 0 0 0 7.899 302719 chr16 1412844 1412844 A C GNPTG Nonsynonymous SNV K254Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 302720 chr16 1821146 1821146 G A rs200014489 NME3 Synonymous SNV H68H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.804 302721 chr16 18812760 18812760 T C rs200140310 ARL6IP1 Nonsynonymous SNV N10S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.4 302722 chr16 20328666 20328666 C T rs78193826 GP2 Nonsynonymous SNV V282M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 302723 chr16 20360359 20360359 G A rs77875418 UMOD Synonymous SNV G88G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 1.107 302724 chr6 55933860 55933860 C T rs763112285 COL21A1 Nonsynonymous SNV G90E 0.002 0 0 0 2 0 0 0 0 0 0 0 33 302725 chr6 56374514 56374514 T C rs781596409 DST Nonsynonymous SNV Y3690C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.2 302726 chr6 111702546 111702546 T C REV3L Nonsynonymous SNV S400G 0.003 0.003 0 0 3 1 0 0 0 0 0 0 20.6 302727 chr20 61981323 61981323 G A rs749506890 CHRNA4 Synonymous SNV G480G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.155 302728 chr20 61981616 61981616 G A rs981343766 CHRNA4 Nonsynonymous SNV R383C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 302729 chr6 112386102 112386102 A G CCN6 Nonsynonymous SNV H164R 0.003 0.003 0 0 3 1 0 0 0 0 0 0 0.002 302730 chr20 62038567 62038567 G A rs150982653 KCNQ2 Synonymous SNV H655H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.041 302731 chr16 22157649 22157649 G T rs763098930 VWA3A Synonymous SNV L941L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.109 302732 chr16 2231520 2231520 G C rs556281885 CASKIN1 Nonsynonymous SNV P617A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 302733 chr16 24834320 24834320 A G rs771090842 TNRC6A Synonymous SNV Q1784Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.25 302734 chr20 62626718 62626718 A G rs764828248 PRPF6 Synonymous SNV L218L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.646 302735 chr16 27473669 27473669 C T rs372091184 GTF3C1 Synonymous SNV L1996L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.68 302736 chr16 27709724 27709724 A T rs143544045 KIAA0556 Nonsynonymous SNV D339V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.139 302737 chr16 28145165 28145165 T A rs181760 XPO6 Synonymous SNV T511T 0.002 0 0.003 0 2 0 0 1 1 0 0 0 13.95 302738 chr6 118887251 118887251 C T CEP85L Nonsynonymous SNV R154Q 0 0 0 2 0 0 0.005 0 0 0 0 0 27.2 302739 chr16 2820358 2820358 G A rs755008673 SRRM2 Nonsynonymous SNV R2676H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 302740 chr19 1615719 1615719 T C rs375552133 TCF3 Nonsynonymous SNV K518E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.48 302741 chr16 30364560 30364560 T C CD2BP2 Nonsynonymous SNV K286R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 302742 chr16 30409122 30409122 G A rs200190369 ZNF48 Nonsynonymous SNV R61Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 302743 chr16 30435593 30435593 C T rs751601499 DCTPP1 Synonymous SNV A158A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 302744 chr19 2116606 2116606 G A AP3D1 Nonsynonymous SNV R667W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 302745 chr16 3299765 3299765 G A rs104895155 MEFV Nonsynonymous SNV T98M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.59 302746 chr16 3433310 3433310 C T rs139612347 ZSCAN32 Nonsynonymous SNV E257K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 302747 chr6 135644371 135644371 T C rs148000791 AHI1 Nonsynonymous SNV E1086G 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.5 302748 chr16 424059 424059 C T rs762002563 TMEM8A Synonymous SNV A616A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 302749 chr16 4492415 4492415 C T rs141270066 DNAJA3 Synonymous SNV S106S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 302750 chr16 4497014 4497014 C T rs143480833 DNAJA3 Nonsynonymous SNV T222M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 302751 chr16 4934225 4934225 C A PPL Nonsynonymous SNV E1477D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 302752 chr16 49430376 49430376 G A rs546860439 C16orf78 Nonsynonymous SNV R146Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 302753 chr16 50745367 50745367 G T rs553575063 NOD2 Synonymous SNV L488L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.528 302754 chr16 5094624 5094624 C A rs548414551 C16orf89 Nonsynonymous SNV R390I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.678 302755 chr16 52473687 52473687 A C rs556136578 TOX3 Nonsynonymous SNV M394R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 302756 chr7 87407202 87407202 A T rs746291158 RUNDC3B Nonsynonymous SNV D296V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 302757 chr19 5039881 5039881 C A KDM4B Nonsynonymous SNV T59K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 302758 chr16 56855487 56855487 C T rs35226934 NUP93 Synonymous SNV V89V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.96 302759 chr21 45535592 45535592 C T rs139773794 LOC102724159, PWP2 Synonymous SNV D209D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.63 302760 chr16 64981764 64981764 C T rs200766127 CDH11 Synonymous SNV A585A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 302761 chr6 158497760 158497760 G A rs766909086 SYNJ2 Nonsynonymous SNV A562T 0 0 0 2 0 0 0.005 0 0 0 0 0 34 302762 chr7 98775660 98775660 G C rs756389890 KPNA7 Nonsynonymous SNV N449K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 302763 chr6 158924444 158924444 G A rs776135562 TULP4 Nonsynonymous SNV C1250Y 0 0 0 2 0 0 0.005 0 0 0 0 0 25.8 302764 chr16 68597722 68597722 G A rs201140287 ZFP90 Synonymous SNV G344G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.923 302765 chr21 47401841 47401841 C T rs150165253 COL6A1 Nonsynonymous SNV P26L 0 0 0.003 0 0 0 0 1 0 0 0 0 12 302766 chr16 69400801 69400801 C T rs200781770 TERF2 Nonsynonymous SNV A417T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 302767 chr21 47552351 47552351 T C COL6A2 Nonsynonymous SNV M982T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 302768 chr16 70516070 70516070 G A COG4 Synonymous SNV F618F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 302769 chr16 70557446 70557446 T C rs1044578924 COG4 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 302770 chr21 47685872 47685872 C T rs779913783 MCM3AP Nonsynonymous SNV V1000I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.321 302771 chr6 167721271 167721271 G A rs753203183 UNC93A Synonymous SNV A285A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.609 302772 chr16 71571130 71571130 C A CHST4 Nonsynonymous SNV L184M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 302773 chr16 71884746 71884746 A G rs373000860 ATXN1L Nonsynonymous SNV H368R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.515 302774 chr6 170871054 170871082 AGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG TBP Q57Hfs*67 0.001 0.003 0 0 1 1 0 0 0 0 0 0 302775 chr6 170871055 170871082 GCAGCAGCAGCAGCAGCAGCAGCAGCAG - TBP Q57Hfs*58 0.001 0.003 0 0 1 1 0 0 0 0 0 0 302776 chr16 74524905 74524905 C T GLG1 Synonymous SNV Q470Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 302777 chr7 112724329 112724329 C T rs779197400 GPR85 Nonsynonymous SNV V150M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 302778 chr16 75681984 75681984 G T TERF2IP Synonymous SNV G68G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.158 302779 chr22 20920805 20920810 CAACAG - rs749136661 MED15 Q190_Q191del 0 0 0.003 0 0 0 0 1 0 0 0 0 302780 chr6 17539535 17539535 C T CAP2 Synonymous SNV V112V 0 0 0 2 0 0 0.005 0 0 0 0 0 13.29 302781 chr7 107344781 107344781 C T rs909072667 SLC26A4 Synonymous SNV V680V 0.003 0 0 0 4 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.62 302782 chr16 81953241 81953241 C T rs779487061 PLCG2 Nonsynonymous SNV T736I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 302783 chr7 111449434 111449434 G A rs376394079 DOCK4 Synonymous SNV L1010L 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 13.37 302784 chr6 3232261 3232261 C A rs1043811178 LOC100422781 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 302785 chr22 28503343 28503343 C T rs746369369 TTC28 Synonymous SNV P830P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.869 302786 chr16 86544379 86544379 C G rs370422274 FOXF1 Synonymous SNV R68R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.91 302787 chr16 87637893 87637893 - CTGCTGCTGCTGCTGCTGCTG JPH3 A157_V158insAAAAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 302788 chr16 88503199 88503199 G A rs543846859 ZNF469 Synonymous SNV P3107P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.719 302789 chr6 33638951 33638951 C T rs147503693 ITPR3 Synonymous SNV L866L 0 0 0 2 0 0 0.005 0 0 0 0 0 15.99 302790 chr16 88724342 88724342 C T rs776110807 MVD Synonymous SNV L79L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.273 302791 chr16 88783064 88783064 G T rs563555492 PIEZO1 Nonsynonymous SNV L2277M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 302792 chr16 88803136 88803136 G A rs536446748 PIEZO1 Nonsynonymous SNV R403W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 302793 chr8 10387083 10387083 C T rs144558050 PRSS55 Nonsynonymous SNV A74V 0.002 0 0 0 2 0 0 0 0 0 0 0 26 302794 chr16 88878008 88878008 A C APRT Nonsynonymous SNV L46R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 302795 chr19 13883018 13883018 G T rs923571999 MRI1 Nonsynonymous SNV A345S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.87 302796 chr6 43128530 43128530 C T rs374632437 PTK7 Nonsynonymous SNV R912C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 35 302797 chr22 37466583 37466583 C G rs780738670 TMPRSS6 Synonymous SNV G594G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 302798 chr19 14073944 14073944 A G rs761967952 RFX1 Nonsynonymous SNV V905A 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 302799 chr22 37531376 37531376 G A rs115475423 IL2RB Synonymous SNV T270T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.893 302800 chr16 90027489 90027489 C T rs7205299 DEF8 Nonsynonymous SNV A162V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 302801 chr22 37888493 37888493 G T CARD10 Synonymous SNV A900A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 302802 chr22 38323824 38323824 G A rs1031880071 MICALL1 Synonymous SNV L624L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.613 302803 chr17 10369705 10369705 A G rs564085770 MYH4 Nonsynonymous SNV F78S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 302804 chr17 10403994 10403994 G A rs117616137 MYH1 Nonsynonymous SNV R1272W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 34 302805 chr17 10541627 10541627 C T rs201553125 MYH3 Synonymous SNV A1154A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.04 302806 chr19 15297982 15297982 G T rs764148985 NOTCH3 Nonsynonymous SNV R592S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 302807 chr8 145110778 145110778 C T rs782158791 OPLAH Nonsynonymous SNV V721M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 302808 chr17 1411432 1411432 C T rs61733755 INPP5K Nonsynonymous SNV G215S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.955 302809 chr17 16347084 16347084 G A rs531165406 LRRC75A Synonymous SNV L285L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.558 302810 chr17 1636037 1636037 C T rs541876277 WDR81 Synonymous SNV P264P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 302811 chr6 44397488 44397488 A G rs142812813 CDC5L Synonymous SNV K644K 0 0 0 2 0 0 0.005 0 0 0 0 0 10.5 302812 chr17 17700978 17700978 G A rs146964703 RAI1 Synonymous SNV E1572E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.25 302813 chr7 151836799 151836799 G C KMT2C Nonsynonymous SNV N4807K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 302814 chr17 17929669 17929669 C T rs752724335 ATPAF2 Nonsynonymous SNV R129Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 302815 chr17 18061080 18061080 T C MYO15A Nonsynonymous SNV S2945P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.07 302816 chr17 18146081 18146081 C T rs748086092 LLGL1 Synonymous SNV N1047N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.014 302817 chr22 46776774 46776774 G A rs571539864 CELSR1 Synonymous SNV P2389P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 302818 chr17 1944899 1944899 G A rs572975405 DPH1 Nonsynonymous SNV R269Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 302819 chr6 49928132 49928132 C T rs577162073 DEFB114 Nonsynonymous SNV R28H 0 0 0 2 0 0 0.005 0 0 0 0 0 15.6 302820 chr6 52052482 52052482 G A IL17A Nonsynonymous SNV E37K 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 302821 chr6 7542260 7542260 A G rs957993982 DSP Nonsynonymous SNV S38G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.91 302822 chr6 7556044 7556044 C T rs727502997 DSP Synonymous SNV I88I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18 302823 chr19 19337625 19337625 C T rs757000546 NCAN Nonsynonymous SNV T468M 0 0.003 0 0 0 1 0 0 0 0 0 0 6.855 302824 chr17 2139924 2139924 T C rs564076020 SMG6 Nonsynonymous SNV T3A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 302825 chr6 6649896 6649896 T C LY86 Nonsynonymous SNV F131L 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 302826 chr17 26897941 26897941 T G rs372172502 PIGS Nonsynonymous SNV E72A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 302827 chr8 23386551 23386551 G C SLC25A37 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 302828 chr17 27908971 27908971 A G rs554276729 GIT1 Synonymous SNV N199N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.398 302829 chr17 28778835 28778835 G A rs150285239 CPD Nonsynonymous SNV R812H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 302830 chr8 27516076 27516076 G A rs34791518 SCARA3 Nonsynonymous SNV R130Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.622 302831 chr17 3324375 3324375 A T OR3A3 Nonsynonymous SNV M172L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 302832 chr19 34890493 34890493 T G rs543065808 GPI Nonsynonymous SNV I449M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 302833 chr7 100283905 100283905 T C rs141528726 GIGYF1 Synonymous SNV E282E 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.003 302834 chr6 88050942 88050942 A G rs943520036 SMIM8 0 0 0 2 0 0 0.005 0 0 0 0 0 11.89 302835 chr7 100463411 100463411 G A rs141933703 SLC12A9 Synonymous SNV T500T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 9.841 302836 chr17 3421921 3421921 G A rs201663049 TRPV3 Synonymous SNV G678G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.04 302837 chr19 49364753 49364753 G A rs113010494 PLEKHA4 Nonsynonymous SNV R91C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 302838 chr17 3749371 3749371 G C rs530526692 NCBP3 Nonsynonymous SNV I49M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 302839 chr7 42949302 42949302 G C C7orf25 Nonsynonymous SNV L458V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 302840 chr17 37881114 37881114 G A rs368094521 ERBB2 Nonsynonymous SNV G815R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 302841 chr17 38126886 38126886 C T rs553099772 GSDMA Nonsynonymous SNV P182S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.75 302842 chr2 133427624 133427624 G A rs779798800 LYPD1 Synonymous SNV R19R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.98 302843 chr19 50472959 50472959 - TGC rs552620223 SIGLEC16 L4_P5insL 0 0 0 1 0 0 0.003 0 0 0 0 0 302844 chr8 67342344 67342344 C - rs775469133 RRS1 P327Rfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 302845 chr17 39346395 39346395 G A KRTAP9-1 Nonsynonymous SNV C86Y 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 302846 chr2 152325061 152325061 G A RIF1 Nonsynonymous SNV C2274Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29 302847 chr17 39346396 39346396 C A KRTAP9-1 Stop gain C86X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302848 chr8 21894010 21894010 C T rs199619291 NPM2 Nonsynonymous SNV R136C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 302849 chr2 152408331 152408331 C T rs144168709 NEB Nonsynonymous SNV S4921N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.7 302850 chr2 152420427 152420427 C G rs371669095 NEB Synonymous SNV A4462A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 302851 chr2 152497090 152497090 G A rs757579723 NEB Nonsynonymous SNV H2822Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 302852 chr2 152497091 152497091 C A rs779148176 NEB Nonsynonymous SNV M2821I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 302853 chr19 39006759 39006759 G A rs1064797240 RYR1 Nonsynonymous SNV R3196H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.8 302854 chr19 39216457 39216457 C T ACTN4 Nonsynonymous SNV P702S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 302855 chr8 86250679 86250679 C T rs761914154 CA1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 302856 chr17 39643340 39643340 T C rs11657323 KRT36 Nonsynonymous SNV N357S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.881 302857 chr2 165551667 165551667 C T rs61748611 COBLL1 Synonymous SNV S745S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.235 302858 chr2 167273291 167273291 C T rs375736846 SCN7A Nonsynonymous SNV E1114K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 302859 chr17 40837137 40837137 C T rs780961124 CNTNAP1 Synonymous SNV G164G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 302860 chr17 40911776 40911776 A - rs3840868 RAMP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 302861 chr8 99591977 99591977 C G rs374827150 STK3 Nonsynonymous SNV R177T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 302862 chr17 40996728 40996728 G A rs146942050 AOC2 Nonsynonymous SNV G29S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.321 302863 chr17 41021023 41021023 G C rs11871375 AOC4P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 302864 chr17 41031695 41031695 - C rs149272310 LINC00671 0 0 0.003 0 0 0 0 1 0 0 0 0 302865 chr17 41465937 41465937 - CA LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 302866 chr17 41465939 41465939 A G LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 4.132 302867 chr17 41465941 41465941 A G LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 3.71 302868 chr17 41465942 41465942 - G LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 302869 chr17 41465944 41465944 A G LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 1.502 302870 chr17 41465950 41465950 A C rs140897052 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 4.797 302871 chr17 41465956 41465956 A G rs143530232 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 1.057 302872 chr17 41465957 41465957 T C rs142030421 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 2.059 302873 chr17 41465964 41465964 G T rs139221236 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 0.24 302874 chr17 41598232 41598232 C G rs562564270 DHX8 Synonymous SNV V926V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 302875 chr17 42092185 42092185 G A TMEM101 Nonsynonymous SNV R46W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 302876 chr17 42254599 42254599 G T ASB16-AS1, ASB16 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 302877 chr2 179424472 179424472 C T rs181167673 TTN Nonsynonymous SNV R19731H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 302878 chr2 179424557 179424557 C A TTN Nonsynonymous SNV A19703S 0 0 0.003 0 0 0 0 1 0 0 0 0 22 302879 chr2 17942763 17942763 A G rs757959810 GEN1 Nonsynonymous SNV K88E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 302880 chr2 179435113 179435113 C T rs773286477 TTN Nonsynonymous SNV R16184H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 302881 chr17 45925259 45925259 C G rs577259754 SP6 Synonymous SNV G179G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 302882 chr7 102939922 102939922 C T rs149259090 PMPCB Synonymous SNV Y91Y 0 0 0 2 0 0 0.005 0 0 0 0 0 13.57 302883 chr9 114128534 114128534 T C rs750385106 ECPAS Nonsynonymous SNV I1765V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 302884 chr17 48655568 48655568 C T rs559202195 CACNA1G Synonymous SNV C648C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 302885 chr17 48703955 48703955 G A rs546393701 CACNA1G Nonsynonymous SNV S2199N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 302886 chr8 66617089 66617089 G A rs779099964 MTFR1 Nonsynonymous SNV E115K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 302887 chr17 61571314 61571314 C T rs1007334111 ACE Synonymous SNV A482A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 302888 chr17 61791458 61791458 G A rs777619656 STRADA Nonsynonymous SNV A8V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 302889 chr2 198359436 198359436 T C rs67967266 HSPD1 Nonsynonymous SNV N184S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.875 302890 chr19 49253699 49253699 C T rs568411797 FUT1 Synonymous SNV T280T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.24 302891 chr19 49481242 49481242 A T GYS1 Nonsynonymous SNV M352K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.57 302892 chr2 201805975 201805975 G A rs773720834 ORC2 Nonsynonymous SNV P150L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 302893 chr17 63554110 63554110 A G rs529954883 AXIN2 Nonsynonymous SNV M210T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.001 302894 chr8 95801981 95801981 G T DPY19L4 Nonsynonymous SNV C672F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 302895 chr17 649616 649616 T C rs200190989 GEMIN4 Nonsynonymous SNV H556R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 10.43 302896 chr2 20518361 20518361 C T PUM2 Nonsynonymous SNV D33N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 302897 chr17 67153051 67153051 C T rs145802388 ABCA10 Nonsynonymous SNV S1126N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 302898 chr19 50434282 50434282 G A rs199827856 ATF5 Nonsynonymous SNV A59T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.98 302899 chr17 68129023 68129023 C T rs370709407 KCNJ16 Synonymous SNV A300A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.802 302900 chr17 7094596 7094596 C T rs560100344 DLG4 Synonymous SNV E626E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 302901 chr19 51885751 51885751 G A rs749676071 LIM2 Synonymous SNV G82G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.14 302902 chrX 103495001 103495001 G A ESX1 Nonsynonymous SNV P377S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 302903 chr17 7256829 7256829 G T rs373002616 KCTD11 Nonsynonymous SNV V190L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 302904 chr2 219561873 219561873 G A STK36 Nonsynonymous SNV G879R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 302905 chr17 7366722 7366722 G T rs192870489 ZBTB4 Nonsynonymous SNV P527T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 302906 chr17 73843638 73843638 G A WBP2 Synonymous SNV P150P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 302907 chr7 21603968 21603968 C T rs200648006 DNAH11 Nonsynonymous SNV R383W 0.003 0.003 0 0 3 1 0 0 0 0 0 0 Uncertain significance 35 302908 chr2 220344785 220344785 C T SPEG Synonymous SNV Y1755Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 302909 chr19 53304648 53304648 T C rs762487427 ZNF28 Synonymous SNV E97E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 302910 chr17 74141509 74141509 C T rs557005327 RNF157-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 302911 chr20 2464125 2464125 G A rs563951656 ZNF343 Synonymous SNV V404V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.449 302912 chr20 2636613 2636613 C T NOP56 Nonsynonymous SNV L315F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 302913 chr7 23349047 23349047 G T MALSU1 Nonsynonymous SNV R197L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27 302914 chr17 74449062 74449062 G C rs568228756 UBE2O Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 302915 chr19 53669099 53669099 A G rs370621605 ZNF665 Nonsynonymous SNV F215S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 302916 chr17 74765856 74765856 A C rs558911082 MFSD11 Synonymous SNV V207V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 302917 chr17 76435280 76435280 G A rs368552402 DNAH17 Synonymous SNV T3899T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 302918 chr2 231339146 231339146 A C SP100 Nonsynonymous SNV K528N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 302919 chr17 7750733 7750733 A G rs756220328 KDM6B Nonsynonymous SNV N407S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 302920 chr2 234238193 234238193 G A SAG Nonsynonymous SNV E235K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 302921 chr2 234371291 234371291 G A DGKD Synonymous SNV G988G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.651 302922 chr17 78163630 78163630 C T rs537507973 CARD14 Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.915 302923 chrX 17746076 17746076 G C NHS Nonsynonymous SNV D1086H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 302924 chr2 237172960 237172960 T C rs758638427 ASB18 Nonsynonymous SNV Y10C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 302925 chr17 79684790 79684790 G A rs202063198 SLC25A10 Nonsynonymous SNV A211T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 302926 chr17 79977419 79977419 C T CENPX Synonymous SNV G80G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 302927 chr17 80211055 80211055 G A rs531474812 CSNK1D Synonymous SNV F134F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.382 302928 chr2 241628148 241628148 C T LOC285191 0 0 0.003 0 0 0 0 1 0 0 0 0 1.943 302929 chr17 8700938 8700938 C T rs777825840 MFSD6L Nonsynonymous SNV G501R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 302930 chr7 44579758 44579758 G A rs375407333 NPC1L1 Nonsynonymous SNV R80C 0 0 0 2 0 0 0.005 0 0 0 0 0 23 302931 chr18 18964181 18964181 G A rs530522875 GREB1L Nonsynonymous SNV V58M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 302932 chr7 45122199 45122199 G T rs887146625 NACAD Nonsynonymous SNV P1194T 0 0 0 2 0 0 0.005 0 0 0 0 0 12.59 302933 chr2 24483997 24483997 G T rs41281487 ITSN2 Nonsynonymous SNV S847Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 302934 chr9 32541396 32541397 CA - rs776001696 TOPORS Stop gain C977* 0.001 0 0 0 1 0 0 0 0 0 0 0 302935 chr18 23618535 23618535 C G rs547058660 SS18 Nonsynonymous SNV Q288H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 302936 chr19 58596391 58596391 C G ZSCAN18 Nonsynonymous SNV Q262H 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 302937 chr18 28993231 28993231 T G rs373510855 DSG4 Nonsynonymous SNV N951K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.3 302938 chr18 29118804 29118804 C G DSG2 Nonsynonymous SNV P581R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 302939 chr2 27604568 27604568 G A rs768081772 PPM1G Synonymous SNV L513L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.474 302940 chr18 3119947 3119947 G A rs557671408 MYOM1 Nonsynonymous SNV A917V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 302941 chr8 27637758 27637758 A T rs145734811 ESCO2 Nonsynonymous SNV E310V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.73 302942 chr2 32768467 32768467 T A rs199654826 BIRC6 Nonsynonymous SNV S4151T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 302943 chr2 37276876 37276876 C T rs781180114 HEATR5B Synonymous SNV A872A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 302944 chr9 71863119 71863119 G T rs369972534 TJP2 Synonymous SNV S957S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.171 302945 chr2 37586818 37586818 A G rs778424711 QPCT Synonymous SNV S121S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.203 302946 chr7 6071053 6071053 G C ANKRD61 Nonsynonymous SNV S16T 0 0 0 2 0 0 0.005 0 0 0 0 0 7.846 302947 chr18 45566492 45566492 G A rs115555171 ZBTB7C Synonymous SNV N329N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.717 302948 chr7 64168298 64168298 G A rs201478920 ZNF107 Nonsynonymous SNV R576H 0 0 0 2 0 0 0.005 0 0 0 0 0 11.67 302949 chr2 39285817 39285817 T C rs756743555 SOS1 Synonymous SNV L114L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.238 302950 chr18 48256221 48256221 G T MAPK4 Nonsynonymous SNV W376C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 302951 chr18 50450088 50450088 C T rs201234438 DCC Nonsynonymous SNV H237Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 302952 chr18 51056950 51056950 A T rs779526595 DCC Nonsynonymous SNV D1424V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 302953 chr2 44429156 44429156 A G rs767149331 PPM1B Nonsynonymous SNV N273S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 302954 chr7 70255630 70255650 ACGAGCGGGGAGGCCACCTGG - AUTS2 G1122_R1128del 0 0 0 2 0 0 0.005 0 0 0 0 0 302955 chr18 55240501 55240501 G A rs577947755 FECH Synonymous SNV D97D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 302956 chr9 26892472 26892472 C T rs756203660 CAAP1 Nonsynonymous SNV R81H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 302957 chr7 8125953 8125953 C A rs372079160 GLCCI1 Nonsynonymous SNV L477I 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 302958 chr18 633419 633419 G A rs201998119 CLUL1 Synonymous SNV Q326Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.252 302959 chr2 69350176 69350176 C G rs776718589 ANTXR1 Nonsynonymous SNV T277S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 302960 chrX 102334981 102334981 A T NXF3 Nonsynonymous SNV S338T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 302961 chr18 72264459 72264459 A G LINC00909 0 0 0.003 0 0 0 0 1 0 0 0 0 2.292 302962 chr9 37541624 37541624 G A rs769335093 FBXO10 Synonymous SNV L48L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.952 302963 chr7 92734070 92734070 G A SAMD9 Synonymous SNV N447N 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 302964 chr18 77096656 77096656 G A rs754672336 ATP9B Nonsynonymous SNV R686Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 302965 chr18 77107810 77107810 C T ATP9B Nonsynonymous SNV T908M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 302966 chr2 74531794 74531794 G C rs756588682 SLC4A5 Nonsynonymous SNV I31M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 302967 chr18 77659417 77659417 G A rs769554137 KCNG2 Synonymous SNV A334A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 302968 chr18 9258670 9258670 T C ANKRD12 Nonsynonymous SNV L1779S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.15 302969 chr21 37605314 37605314 G A DOP1B Nonsynonymous SNV V855I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.69 302970 chr19 1013255 1013255 C T rs544321331 TMEM259 Nonsynonymous SNV E198K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 302971 chr20 31958354 31958354 C T rs762924338 CDK5RAP1 Nonsynonymous SNV R371Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 302972 chr19 10217248 10217248 C T rs11559190 PPAN, PPAN-P2RY11 Synonymous SNV H30H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 302973 chr21 39087253 39087253 G A rs201815398 KCNJ6 Synonymous SNV N69N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.809 302974 chr19 10224637 10224637 C T rs79800334 P2RY11, PPAN-P2RY11 Synonymous SNV S116S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.13 302975 chr19 10225060 10225060 C T rs77496977 P2RY11, PPAN-P2RY11 Synonymous SNV Y257Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.809 302976 chr19 10225390 10225390 C G rs74462278 P2RY11, PPAN-P2RY11 Synonymous SNV P367P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.766 302977 chr19 10251551 10251551 C T rs756854476 DNMT1 Synonymous SNV P1127P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 302978 chr20 33623078 33623078 C T rs759142142 TRPC4AP Nonsynonymous SNV R300Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 302979 chr8 10466883 10466883 C T rs200941554 RP1L1 Synonymous SNV E1575E 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 9.725 302980 chr20 33842556 33842556 C T rs201524805 MMP24 Synonymous SNV D272D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.01 302981 chr2 96967450 96967450 C T rs901180215 SNRNP200 Nonsynonymous SNV R129H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 302982 chrX 136112341 136112341 A G rs147687583 GPR101 Nonsynonymous SNV I498T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 302983 chr2 97363876 97363876 G A rs764708234 FER1L5 Nonsynonymous SNV V1447M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.03 302984 chr20 34560590 34560590 C T rs138466031 CNBD2 Stop gain R31X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 302985 chr19 11304118 11304118 T C KANK2 Nonsynonymous SNV Q213R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 302986 chr20 37570664 37570664 A G rs906729532 FAM83D Nonsynonymous SNV I182M 0 0.003 0 0 0 1 0 0 0 0 0 0 5.251 302987 chr19 12155502 12155502 - G rs572708498 ZNF878 Frameshift insertion P239Sfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 302988 chrX 19389462 19389462 C G rs147323806 MAP3K15 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 302989 chr19 1528058 1528058 C T rs768043297 PLK5 Synonymous SNV I42I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 302990 chr19 15852517 15852517 C T rs192354127 OR10H3 Synonymous SNV S105S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 302991 chr3 120067730 120067730 T - LRRC58 S121Afs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 302992 chrX 48631847 48631847 C T rs782226313 GLOD5 Nonsynonymous SNV S160L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 302993 chrX 48814505 48814505 C T OTUD5 Nonsynonymous SNV G110S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 302994 chr19 16060577 16060577 T C rs145516187 OR10H4 Nonsynonymous SNV Y254H 0.002 0 0.003 1 2 0 0.003 1 0 0 0 0 20.9 302995 chrX 53225146 53225146 C A KDM5C Nonsynonymous SNV E957D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 302996 chrX 66765159 66765194 GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA - AR Q69_Q80del 0.001 0 0 0 1 0 0 0 0 0 0 0 302997 chrX 70823604 70823604 T C rs139110831 GCNA Synonymous SNV P159P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 302998 chr20 58494645 58494645 G A rs78182350 SYCP2 Nonsynonymous SNV A102V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14 302999 chr19 17651248 17651248 C G rs545090411 NIBAN3 Nonsynonymous SNV P100A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.495 303000 chr19 17951106 17951106 G A rs149047410 JAK3 Nonsynonymous SNV P396L 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 11.25 303001 chr3 126228468 126228468 A G UROC1 Nonsynonymous SNV M104T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 303002 chr19 18538594 18538594 G A rs549009589 SSBP4 Synonymous SNV E55E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.859 303003 chr19 20116956 20116956 C T rs368709233 ZNF682 Nonsynonymous SNV R420H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 303004 chr1 1244024 1244024 A G rs781550889 PUSL1 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 15.04 303005 chr19 21299944 21299944 C T ZNF714 Synonymous SNV H158H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.49 303006 chr20 62200762 62200762 C T rs149168772 HELZ2 Nonsynonymous SNV R276H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.154 303007 chr3 136196182 136196182 G A rs771640948 STAG1 Synonymous SNV A325A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 303008 chr19 2477228 2477228 C T rs368495318 GADD45B Synonymous SNV D116D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.726 303009 chrX 35989012 35989012 G T rs763875914 CFAP47 Nonsynonymous SNV V648L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 303010 chr19 307382 307382 G A rs536976950 MIER2 Synonymous SNV D415D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 303011 chr19 33792766 33792766 C T rs754400471 CEBPA Synonymous SNV P66P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 303012 chr19 3382171 3382171 G T rs11878387 NFIC Synonymous SNV V164V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.46 303013 chr19 35448919 35448919 C T rs200278064 ZNF792 Nonsynonymous SNV A614T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 303014 chr19 35448945 35448945 C G rs201800628 ZNF792 Nonsynonymous SNV S605T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303015 chr19 35451839 35451839 G A rs200051757 ZNF792 Synonymous SNV L31L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 303016 chr1 7846848 7846848 T C PER3 Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.353 303017 chr19 35524607 35524607 G A rs72558029 SCN1B Nonsynonymous SNV V138I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign/Likely benign 22.2 303018 chr8 17422561 17422561 C G rs375243385 SLC7A2 Nonsynonymous SNV A628G 0 0 0 2 0 0 0.005 0 0 0 0 0 13.2 303019 chr22 37266379 37266379 G A rs752523245 NCF4-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 3.185 303020 chr19 36224130 36224130 C T rs200908859 KMT2B Nonsynonymous SNV T2227M 0 0 0.007 0 0 0 0 2 0 0 0 0 16.75 303021 chr8 20054931 20054931 C A rs368067224 ATP6V1B2 Nonsynonymous SNV A5E 0 0 0 2 0 0 0.005 0 0 0 0 0 26.1 303022 chr19 36386968 36386968 A T NFKBID Nonsynonymous SNV C189S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303023 chr19 36496317 36496317 C T rs760789731 SYNE4 Nonsynonymous SNV R184Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.358 303024 chr1 15623214 15623214 A G rs12032022 FHAD1 Synonymous SNV S201S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.242 303025 chr19 37677040 37677040 C T rs1657509 ZNF585B Nonsynonymous SNV V467I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 303026 chr19 3785064 3785064 G A rs758085801 MATK Nonsynonymous SNV R24W 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 303027 chr1 15689165 15689165 C T FHAD1 Nonsynonymous SNV P975L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.019 303028 chr8 24772312 24772312 G A rs56902012 NEFM Nonsynonymous SNV G336S 0 0 0 2 0 0 0.005 0 0 0 0 0 not provided 24 303029 chr1 15767020 15767020 G A rs121909294 CTRC Stop gain W55X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic, risk factor 35 303030 chr3 180328051 180328051 T C rs377072536 TTC14 Synonymous SNV S678S 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.003 303031 chr1 2304000 2304000 G T rs116550976 MORN1 Nonsynonymous SNV P222Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.1 303032 chr8 27168654 27168654 A G rs35188998 TRIM35 Synonymous SNV T33T 0 0 0.003 2 0 0 0.005 1 0 0 0 0 1.521 303033 chr21 43557654 43557654 G A rs773484704 UMODL1 Nonsynonymous SNV R1350H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.916 303034 chr8 27293306 27293306 C T rs55853846 PTK2B Synonymous SNV P413P 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Benign 11.11 303035 chr1 2938941 2938941 C T rs542542083 ACTRT2 Nonsynonymous SNV L231F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.881 303036 chr8 27457507 27457507 G C rs9331937 CLU Synonymous SNV P318P 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 2.702 303037 chr19 38969101 38969101 T C rs767928113 RYR1 Nonsynonymous SNV V1494A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 303038 chr1 3427383 3427383 C T rs776712885 MEGF6 Nonsynonymous SNV G400S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 303039 chr19 39868269 39868269 G A rs529872635 SAMD4B Nonsynonymous SNV E417K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 303040 chr21 46326949 46326949 A G ITGB2 Star tloss M70T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 303041 chr3 186943196 186943196 C A MASP1 Nonsynonymous SNV V553L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 303042 chr21 46951812 46951812 G A SLC19A1 Nonsynonymous SNV A107V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 303043 chr19 40909737 40909737 G A rs754747216 PRX Synonymous SNV I20I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.29 303044 chr8 8176541 8176541 G A rs529703127 PRAG1 Nonsynonymous SNV A1115V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.358 303045 chr1 21014143 21014143 G A rs201867180 KIF17 Nonsynonymous SNV P559L 0.002 0 0 0 2 0 0 0 0 0 0 0 3.232 303046 chr19 4200162 4200162 G A rs763475296 ANKRD24 Nonsynonymous SNV G113R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 303047 chr19 42265325 42265325 T G rs563388006 CEACAM6 Nonsynonymous SNV M198R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 303048 chr22 17646180 17646194 GTCTGTGTTCTGCCT - HDHD5-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 303049 chr19 44057635 44057635 G A rs749053273 XRCC1 Synonymous SNV F173F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.91 303050 chr1 24119656 24119656 C T rs137894016 LYPLA2 Synonymous SNV D42D 0.002 0 0 0 2 0 0 0 0 0 0 0 17.63 303051 chr19 44500729 44500729 T C rs746076208 ZNF155 Synonymous SNV G240G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 303052 chr1 24768603 24768603 A G rs199698296 NIPAL3 Nonsynonymous SNV K73R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 303053 chr22 21383468 21383468 C T rs774279583 SLC7A4 Nonsynonymous SNV R595Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 303054 chr1 25555546 25555546 A G rs900049847 SYF2 Synonymous SNV N67N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.1 303055 chr19 44589935 44589935 C T rs764131983 ZNF284 Stop gain Q102X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 303056 chr19 44591354 44591354 C T rs559255585 ZNF284 Nonsynonymous SNV R575C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 303057 chr3 38763839 38763839 C G rs143744796 SCN10A Nonsynonymous SNV W1041C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 303058 chr19 45015150 45015150 G A rs539857619 CEACAM20 Nonsynonymous SNV P454S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.573 303059 chr3 42244368 42244368 C T rs765506699 TRAK1 Nonsynonymous SNV P549L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 303060 chr1 17349172 17349172 G A rs779143585 SDHB Synonymous SNV A232A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.47 303061 chr19 46195974 46195974 G A rs540460807 QPCTL Nonsynonymous SNV G5S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 303062 chr1 33235611 33235611 G C rs371267433 KIAA1522 Synonymous SNV A218A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.671 303063 chr9 104449477 104449477 G A GRIN3A Synonymous SNV P235P 0 0 0 2 0 0 0.005 0 0 0 0 0 5.007 303064 chr1 33957127 33957127 G A rs376757108 ZSCAN20 Synonymous SNV E423E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.289 303065 chr1 19411113 19411113 A G UBR4 Nonsynonymous SNV F4965L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 303066 chr19 46915774 46915774 G T rs201941979 CCDC8 Nonsynonymous SNV D98E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 303067 chr19 47124756 47124756 A G rs199630324 PTGIR Synonymous SNV P314P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.121 303068 chr3 46400061 46400061 C T rs779248623 CCR2 Nonsynonymous SNV T348M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.68 303069 chr19 47912423 47912423 T C rs377027493 MEIS3 Nonsynonymous SNV K247R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 303070 chr1 35857857 35857857 C G rs370196390 ZMYM4 Nonsynonymous SNV L554V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.59 303071 chr19 48205342 48205342 C T BICRA Synonymous SNV P1451P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 303072 chr9 111795699 111795699 T C rs200726668 TMEM245 Nonsynonymous SNV I828V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 303073 chr19 48523103 48523103 G A rs200809318 ELSPBP1 Synonymous SNV K161K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 303074 chr19 49004596 49004596 G A rs752640968 LMTK3 Synonymous SNV L344L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 303075 chr19 49107153 49107153 G A rs776306481 FAM83E Synonymous SNV D258D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.536 303076 chr3 48663699 48663699 G A rs887721269 SLC26A6 Synonymous SNV V631V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 303077 chr3 49053694 49053694 C T rs895634160 DALRD3 Nonsynonymous SNV R409H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 303078 chr19 49490589 49490589 G A rs374959862 GYS1 Synonymous SNV D118D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.24 303079 chr3 49759489 49759489 C T rs202160208 GMPPB Nonsynonymous SNV R287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 21.4 303080 chr9 116136433 116136433 C T rs376236748 HDHD3 Nonsynonymous SNV G68S 0 0 0 3 0 0 0.008 0 0 0 0 0 33 303081 chr3 49759774 49759774 C G GMPPB Nonsynonymous SNV G220R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 303082 chr19 51021314 51021314 C T rs536138658 LRRC4B Synonymous SNV A552A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 303083 chr3 52427457 52427457 C T rs202182939 DNAH1 Synonymous SNV L3528L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 16.93 303084 chr19 51379779 51379779 A G KLK2 Synonymous SNV T86T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 303085 chr3 52941258 52941258 C T rs367653718 SFMBT1 Nonsynonymous SNV E720K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 303086 chr22 42172236 42172236 G A rs753574306 MEI1 Nonsynonymous SNV R892H 0 0.003 0 0 0 1 0 0 0 0 0 0 14.76 303087 chr1 53686247 53686247 T C rs752849232 CZIB Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 303088 chr1 33292414 33292414 C T rs142338004 S100PBP Synonymous SNV F238F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.444 303089 chr19 52618714 52618714 C T rs1045852 ZNF616 Nonsynonymous SNV R568Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.355 303090 chr9 126134595 126134595 G A rs368104093 CRB2 Nonsynonymous SNV C859Y 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 303091 chr9 127298363 127298363 G A rs61755057 NR6A1 Synonymous SNV A287A 0.001 0 0 2 1 0 0.005 0 0 0 0 0 Benign 16.1 303092 chr3 97592176 97592176 G A CRYBG3 Nonsynonymous SNV G713D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 303093 chr3 97595188 97595188 C T rs916481069 CRYBG3 Nonsynonymous SNV T1717I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.312 303094 chr1 43891291 43891291 C T rs755130899 SZT2 Nonsynonymous SNV T931M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 303095 chr1 1696774 1696774 C T rs144624776 NADK Synonymous SNV S24S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.72 303096 chr1 67838379 67838397 ATTCCAGTCCAGGAGCAAA - IL12RB2 I544Wfs*36 0.002 0 0 0 2 0 0 0 0 0 0 0 303097 chr4 102981442 102981442 C G BANK1 Nonsynonymous SNV L549V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 303098 chr1 46087366 46087366 G - CCDC17 S377Hfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 303099 chr1 1897894 1897894 C T rs41310347 CFAP74 Synonymous SNV G439G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.453 303100 chr1 75055605 75055605 G A ERICH3 Nonsynonymous SNV P629L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.197 303101 chr19 55556514 55556514 C T rs377453163 RDH13 Synonymous SNV R308R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 303102 chrX 79936892 79936892 A G BRWD3 Synonymous SNV H1534H 0.002 0 0 0 2 0 0 0 0 0 0 0 6.137 303103 chr19 55710037 55710037 T C rs554149263 PTPRH Nonsynonymous SNV Y377C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 303104 chr4 122681571 122681571 G A rs149760380 TMEM155 Nonsynonymous SNV R65W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.04 303105 chr19 56321091 56321091 G A rs137923730 NLRP11 Synonymous SNV C196C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.077 303106 chr19 56321514 56321514 C T rs143277549 NLRP11 Synonymous SNV E55E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.076 303107 chr4 122686974 122686974 G T rs368009896 PP12613 0 0 0.003 0 0 0 0 1 0 0 0 0 3.555 303108 chr19 56544958 56544958 T C rs757209989 NLRP5 Nonsynonymous SNV V833A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 303109 chrX 40458977 40458977 T C rs777445408 ATP6AP2 Nonsynonymous SNV V241A 0 0.005 0 0 0 2 0 0 0 1 0 0 1.214 303110 chr1 9780857 9780857 G A PIK3CD Nonsynonymous SNV E498K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 303111 chr10 104596894 104596894 A C rs931528592 CYP17A1 Nonsynonymous SNV I75M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 303112 chr19 56816160 56816160 A C rs117459439 EDDM13 0 0 0.003 0 0 0 0 1 0 0 0 0 16.33 303113 chr10 105191889 105191889 - CCATC PDCD11 Frameshift insertion L1125Pfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 303114 chr10 105191892 105191892 G C PDCD11 Synonymous SNV L1125L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 303115 chr10 105191893 105191893 G C PDCD11 Nonsynonymous SNV E1126Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 303116 chr10 105191895 105191895 G - PDCD11 D1127Mfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 303117 chr1 1688608 1688608 T - rs769204822 NADK K242Rfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 303118 chr19 57333112 57333112 C T rs550751491 PEG3, ZIM2 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.81 303119 chr10 108377923 108377923 C T rs750470191 SORCS1 Synonymous SNV K968K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 303120 chr1 101196914 101196914 T C rs369802629 VCAM1 Synonymous SNV D363D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 303121 chr19 57765116 57765116 C A rs540712846 ZNF805 Nonsynonymous SNV T177N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 303122 chr19 577967 577967 G A rs137914704 BSG Synonymous SNV Q87Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.476 303123 chr1 109526042 109526042 G A rs745414709 WDR47 Nonsynonymous SNV R661C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 303124 chr10 115594998 115594998 G T rs749297395 DCLRE1A Synonymous SNV I1012I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 303125 chr19 58131885 58131885 C T rs201959999 ZNF134 Nonsynonymous SNV T133M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.331 303126 chr19 58477912 58477912 G T rs752670588 C19orf18 Synonymous SNV I119I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.442 303127 chr1 111663252 111663252 A G DRAM2 Nonsynonymous SNV Y5H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.1 303128 chr9 140509554 140509554 C T rs201878624 ARRDC1 Synonymous SNV C422C 0 0 0 2 0 0 0.005 0 0 0 0 0 7.919 303129 chr19 58908381 58908381 A T RNF225 Nonsynonymous SNV T309S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 303130 chr4 16181255 16181255 A G rs28522395 TAPT1 Synonymous SNV Y314Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.826 303131 chr4 162307509 162307509 T C rs201627637 FSTL5 Nonsynonymous SNV Y635C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.82 303132 chr19 58983266 58983266 C T rs760488546 ZNF324 Synonymous SNV L469L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.468 303133 chr19 58991053 58991053 G A ZNF446 Stop gain W224X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 303134 chrX 129148486 129148486 C T rs780898582 BCORL1 Nonsynonymous SNV P580S 0 0.005 0 0 0 2 0 0 0 1 0 0 0.053 303135 chr19 5914650 5914650 G A rs199930097 CAPS Nonsynonymous SNV G54R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 303136 chrX 129349808 129349808 G A rs754326978 ZNF280C Nonsynonymous SNV R599C 0 0.005 0 0 0 2 0 0 0 1 0 0 24.3 303137 chr4 174090107 174090107 A G rs140012242 GALNT7 Nonsynonymous SNV M41V 0 0 0.007 0 0 0 0 2 0 0 0 0 17.63 303138 chr19 6754124 6754124 C G SH2D3A Nonsynonymous SNV E441D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 303139 chr19 7437932 7437932 C T rs549750419 ARHGEF18 Nonsynonymous SNV R84W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 303140 chr19 7600768 7600768 G A rs563334501 PNPLA6 Nonsynonymous SNV G32S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 303141 chr19 7960572 7960572 C T rs763617956 LRRC8E Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.83 303142 chr10 126715056 126715056 C T CTBP2 Nonsynonymous SNV G425S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.94 303143 chr9 27950212 27950212 T C rs536794908 LINGO2 Nonsynonymous SNV H153R 0 0 0 2 0 0 0.005 0 0 0 0 0 0.458 303144 chr10 129055667 129055667 G A DOCK1 Stop gain W1006X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 303145 chr1 145561324 145561324 C G rs376866282 ANKRD35 Nonsynonymous SNV R248G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 303146 chr19 871996 871996 A G rs369438282 MED16 Synonymous SNV Y676Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.98 303147 chr19 8808925 8808925 C T rs782285160 ACTL9 Nonsynonymous SNV D43N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 303148 chr19 889647 889647 G A rs369339727 MED16 Synonymous SNV H146H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.104 303149 chr10 134010594 134010594 A G DPYSL4 Nonsynonymous SNV I204V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 303150 chr4 1932483 1932483 C G rs1028583535 NSD2 Nonsynonymous SNV A514G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.969 303151 chr4 25260754 25260754 A G rs115610773 PI4K2B Synonymous SNV K284K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.172 303152 chr4 3189534 3189534 G A rs764984504 HTT Nonsynonymous SNV D1716N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 303153 chr9 5066712 5066712 G A rs190968273 JAK2 Nonsynonymous SNV G268S 0 0 0 2 0 0 0.005 0 0 0 0 0 28.8 303154 chr1 110921860 110921860 C A rs757206865 SLC16A4 Nonsynonymous SNV L105F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 303155 chr9 5968373 5968373 C T rs192457747 KIAA2026 Nonsynonymous SNV G620S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.08 303156 chr4 37592075 37592075 C T rs114589329 C4orf19 Nonsynonymous SNV T133I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.23 303157 chr9 71842728 71842728 C T rs199761505 TJP2 Nonsynonymous SNV R424C 0 0 0 2 0 0 0.005 0 0 0 0 0 Uncertain significance 35 303158 chr19 9062261 9062261 T A rs370317471 MUC16 Synonymous SNV I8395I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.505 303159 chr9 99581265 99581265 A - ZNF782 F323Sfs*15 0 0.003 0 0 0 1 0 0 0 0 0 0 303160 chr9 77613605 77613605 G T rs146025166 CARNMT1 Synonymous SNV I194I 0 0 0 2 0 0 0.005 0 0 0 0 0 11.36 303161 chr19 9089515 9089515 G A rs573438307 MUC16 Nonsynonymous SNV S767L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.735 303162 chr4 46043213 46043213 G A rs371875912 GABRG1 Nonsynonymous SNV P397L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 303163 chr4 46967035 46967035 A G rs748102848 GABRA4 Synonymous SNV V292V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.004 303164 chr9 82267612 82267612 C T rs770533986 TLE4 Synonymous SNV S140S 0 0 0 2 0 0 0.005 0 0 0 0 0 12.93 303165 chr10 27456090 27456090 C T rs148318181 MASTL Nonsynonymous SNV L291F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.2 303166 chr1 156698905 156698905 C T rs991248219 RRNAD1 Synonymous SNV G3G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.46 303167 chr9 88190262 88190262 A G rs139142318 AGTPBP1 Synonymous SNV N1209N 0 0 0 2 0 0 0.005 0 0 0 0 0 8.283 303168 chrX 128975778 128975778 T A rs145877196 ZDHHC9 Synonymous SNV T48T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Likely benign 10.75 303169 chr1 157737221 157737221 C - FCRL2 C321Lfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 303170 chr1 103496726 103496726 G A rs547493672 COL11A1 Synonymous SNV D242D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 303171 chr1 109325118 109325118 G A rs2275344 STXBP3 Nonsynonymous SNV R295Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 303172 chr1 150620898 150620898 G A rs868730321 GOLPH3L Stop gain R253X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 303173 chr1 150974886 150974886 G A MINDY1 Synonymous SNV L118L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.986 303174 chr1 112305573 112305573 A - DDX20 N420Ifs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 303175 chr1 153651921 153651921 T C NPR1 Nonsynonymous SNV F113L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 303176 chr1 169586363 169586363 G A rs147922476 SELP Synonymous SNV N128N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 10.37 303177 chr1 116666851 116666851 G A rs140174817 MAB21L3 Synonymous SNV Q118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.857 303178 chr1 11826359 11826359 G A rs75694436 C1orf167 Synonymous SNV P172P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.762 303179 chr1 155948177 155948177 C T ARHGEF2 Synonymous SNV R14R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 303180 chr1 156262805 156262805 A C rs775002655 GLMP X332G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.712 303181 chr1 156263158 156263158 G A rs556033782 GLMP Synonymous SNV F250F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.217 303182 chrX 32364182 32364182 C T rs766746479 DMD Nonsynonymous SNV G481S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 303183 chr1 118516059 118516059 G T rs555729052 SPAG17 Nonsynonymous SNV P2044T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 303184 chr10 55582521 55582521 A C rs1007918323 PCDH15 Synonymous SNV S1615S 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.018 303185 chr10 55782916 55782916 G A rs373539084 PCDH15 Synonymous SNV Y683Y 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 2.389 303186 chrX 47107261 47107261 T C USP11 Nonsynonymous SNV S899P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 6.84 303187 chr10 59997574 59997574 A C IPMK Synonymous SNV G64G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 303188 chrX 149678282 149678282 T C rs370348294 MAMLD1 Synonymous SNV N631N 0 0 0 2 0 0 0.005 0 0 0 0 0 3.184 303189 chr1 1248469 1248469 G A rs563141128 INTS11 Synonymous SNV V261V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.116 303190 chr1 178489864 178489864 A T TEX35 Nonsynonymous SNV H141L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 303191 chrX 53630421 53630421 T C rs148400203 HUWE1 Synonymous SNV Q928Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.137 303192 chr1 12837411 12837411 G A rs200147207 PRAMEF12 Nonsynonymous SNV R374H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.765 303193 chr10 21805720 21805720 - TGGTGG rs749932127 SKIDA1 H351_R352insHH 0.001 0 0 0 1 0 0 0 0 0 0 0 303194 chr1 145498627 145498627 C T rs587616069 LIX1L Nonsynonymous SNV P288L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 303195 chr1 146758117 146758117 A C rs587733205 CHD1L Nonsynonymous SNV S517R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 303196 chr1 159906616 159906616 A C rs148377680 IGSF9 Synonymous SNV R161R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.047 303197 chr1 150788877 150788877 C T rs754122594 ARNT, ARNT Nonsynonymous SNV S588N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 303198 chr4 88414838 88414838 C T rs756941848 SPARCL1 Nonsynonymous SNV E247K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 303199 chr10 29136127 29136127 A G C10orf126 0.002 0 0 0 2 0 0 0 0 0 0 0 1.202 303200 chr1 151734922 151734922 C T rs371659600 MRPL9 Nonsynonymous SNV R122Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 303201 chr10 72358167 72358167 G A rs138126912 PRF1 Nonsynonymous SNV A437V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 303202 chr1 152327368 152327368 C A rs571867232 FLG2 Nonsynonymous SNV G965V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 303203 chr10 31815848 31815848 G T rs148446855 ZEB1 Nonsynonymous SNV V937L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.218 303204 chr1 165619193 165619193 A C MGST3 Nonsynonymous SNV K37Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 303205 chr10 3187860 3187860 C T rs778038279 PITRM1 Synonymous SNV A697A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.92 303206 chr10 73437281 73437281 G A rs761468283 CDH23 Nonsynonymous SNV R528H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 303207 chr1 200550369 200550369 C T rs115335190 KIF14 Nonsynonymous SNV A608T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.18 303208 chr1 200569591 200569591 T C rs115233014 KIF14 Synonymous SNV R240R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.05 303209 chr4 99337916 99337916 G A rs765608907 RAP1GDS1 Nonsynonymous SNV V171I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 303210 chr1 153752324 153752324 C G rs199542091 SLC27A3 Nonsynonymous SNV T633S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 303211 chrX 41075778 41075778 C T USP9X Synonymous SNV A1986A 0 0 0 3 0 0 0.008 0 0 0 0 1 12.65 303212 chrX 48690531 48690531 A T rs781896796 PCSK1N Nonsynonymous SNV V112D 0 0 0 2 0 0 0.005 0 0 0 0 0 14.69 303213 chrX 55033621 55033621 A T rs202081643 APEX2 Nonsynonymous SNV K266M 0 0 0 3 0 0 0.008 0 0 0 0 1 1.672 303214 chr1 155156417 155156417 T C rs553305685 TRIM46 Synonymous SNV D551D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 303215 chr5 112203115 112203115 T G rs750422062 SRP19 Nonsynonymous SNV L82V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 303216 chr1 155224198 155224198 G A rs537973505 FAM189B Nonsynonymous SNV T92I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 303217 chr1 64732855 64732855 G C rs200788477 UBE2U Nonsynonymous SNV W260C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 303218 chr10 82043723 82043723 G A rs750570720 MAT1A Nonsynonymous SNV R81W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.2 303219 chrX 70823909 70823909 A T GCNA Nonsynonymous SNV D261V 0 0 0 2 0 0 0.005 0 0 0 0 0 13.04 303220 chr1 179820243 179820243 C T rs138587725 TOR1AIP2 Nonsynonymous SNV G97D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 303221 chr1 156641723 156641723 C T rs760631035 NES Nonsynonymous SNV E753K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 303222 chr1 156821872 156821872 C T rs199566786 INSRR Nonsynonymous SNV R250H 0 0 0.007 0 0 0 0 2 0 0 0 0 24.4 303223 chr1 157665928 157665928 A G rs768496707 FCRL3 Nonsynonymous SNV V345A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 303224 chr1 158152752 158152752 C G rs569233577 CD1D Nonsynonymous SNV P231R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 303225 chr5 128362932 128362932 G A SLC27A6 Synonymous SNV K454K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 303226 chr1 158612619 158612619 G A rs372099409 SPTA1 Synonymous SNV D1530D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 303227 chr1 158619724 158619724 C T rs548028760 SPTA1 Nonsynonymous SNV R1164H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 303228 chr1 78401672 78401674 AAG - rs794729091 NEXN R411del 0.001 0 0 0 1 0 0 0 0 0 0 0 303229 chr5 132535393 132535393 G A FSTL4 Synonymous SNV G641G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.939 303230 chr1 158911800 158911800 G A rs140757466 PYHIN1 Nonsynonymous SNV A205T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 303231 chr5 134678866 134678866 C T rs768345472 C5orf66 0 0 0.003 0 0 0 0 1 0 0 0 0 34 303232 chr1 159159610 159159610 C T rs758913293 CADM3 Synonymous SNV D46D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 303233 chr1 1597356 1597356 G T rs78875124 SLC35E2B Synonymous SNV T361T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.518 303234 chr1 15986477 15986477 C T rs533088478 RSC1A1 Synonymous SNV C38C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 303235 chr10 96802760 96802760 G A rs762895826 CYP2C8 Nonsynonymous SNV P244S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 303236 chr5 137593620 137593620 A G rs146463478 GFRA3 Nonsynonymous SNV F165L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 303237 chr1 160607285 160607285 C T rs375835133 SLAMF1 Synonymous SNV R37R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 303238 chr10 105349399 105349399 C G rs146929372 NEURL1 Nonsynonymous SNV L490V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.12 303239 chr10 68687092 68687092 C G rs147373916 LRRTM3 Nonsynonymous SNV L140V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 303240 chr10 708017 708017 G A rs138652954 PRR26 Synonymous SNV T128T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 303241 chr1 220300174 220300174 A G rs775682743 IARS2 Nonsynonymous SNV Y609C 0.002 0 0 0 2 0 0 0 0 0 0 0 9.945 303242 chr1 201982958 201982958 G A rs138585317 ELF3 Synonymous SNV A269A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.682 303243 chr11 1016529 1016529 G A rs537995039 MUC6 Nonsynonymous SNV S2091L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.76 303244 chr5 140515946 140515946 A G rs143480499 PCDHB5 Synonymous SNV A310A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.534 303245 chr1 167944080 167944080 A G rs762650151 DCAF6 Nonsynonymous SNV I58V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 303246 chr1 202725593 202725593 T C rs772975500 KDM5B Nonsynonymous SNV I372V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 303247 chr5 140801080 140801080 C T rs368199651 PCDHGA11 Nonsynonymous SNV L96F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 303248 chr1 203652341 203652341 A T ATP2B4 Nonsynonymous SNV N3I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 303249 chr1 225592204 225592204 G C LBR Nonsynonymous SNV T530R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 303250 chr5 145719655 145719655 C T POU4F3 Nonsynonymous SNV S222L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 303251 chr1 171621608 171621608 C A rs74315339 MYOC Nonsynonymous SNV Q48H 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 12.62 303252 chr1 173010841 173010841 G A rs548144006 TNFSF18 Nonsynonymous SNV S89L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 303253 chr1 173878929 173878929 G T rs549991084 SERPINC1 Nonsynonymous SNV P305H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.7 303254 chr1 175067674 175067674 G T rs149504279 TNN Nonsynonymous SNV V688L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 303255 chr1 178412104 178412104 C A RASAL2 Nonsynonymous SNV R260S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 303256 chr5 150726871 150726873 TCT - rs559821596 SLC36A2 K50del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 303257 chr11 63257814 63257814 - G rs752453390 PLAAT5 Frameshift insertion L57Pfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 303258 chr1 236143950 236143950 G T NID1 Nonsynonymous SNV N1077K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 303259 chr1 214794043 214794043 A G rs141779900 CENPF Nonsynonymous SNV I207V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 303260 chr1 181741278 181741278 G A rs373091982 CACNA1E Nonsynonymous SNV A1665T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 303261 chr1 182812431 182812431 T A rs370529753 DHX9 Synonymous SNV V38V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.51 303262 chr1 222826365 222826365 G A rs377039034 MIA3 Nonsynonymous SNV E246K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 303263 chr1 150053494 150053494 C T rs143828923 VPS45 Nonsynonymous SNV P148L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 28.9 303264 chr1 192335157 192335157 A G rs556326228 RGS21 Nonsynonymous SNV K121R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 303265 chr1 193074453 193074453 C G rs765281033 GLRX2 Synonymous SNV S20S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.428 303266 chr1 196251430 196251430 A C rs545851328 KCNT2 Synonymous SNV T844T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.072 303267 chr1 197070178 197070178 A C rs372416792 ASPM Nonsynonymous SNV F2735V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.99 303268 chr1 151315285 151315285 G A rs760069839 RFX5 Nonsynonymous SNV R410W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 303269 chr1 151542215 151542215 G A rs148427914 TUFT1 Nonsynonymous SNV R163Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.53 303270 chr1 248020719 248020719 T C rs775386370 TRIM58 Synonymous SNV C57C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 303271 chr1 227192697 227192697 G T CDC42BPA Nonsynonymous SNV A1595E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 303272 chr1 200311811 200311811 C T rs575034891 LINC00862 0 0 0.003 0 0 0 0 1 0 0 0 0 0.201 303273 chr5 176523156 176523156 T G rs371331546 FGFR4 Nonsynonymous SNV I600M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 303274 chr1 200817239 200817239 A C rs553031275 CAMSAP2 Nonsynonymous SNV I432L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.385 303275 chr1 201175846 201175846 G A rs199819353 IGFN1 Nonsynonymous SNV D609N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.028 303276 chr1 228404377 228404377 G A rs201053792 OBSCN Nonsynonymous SNV R784H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.05 303277 chr1 248309326 248309326 C T rs150445512 OR2M5 Nonsynonymous SNV R293C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 303278 chr1 153276446 153276446 C A rs753971677 PGLYRP3 Nonsynonymous SNV G139V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 303279 chr1 202935951 202935951 G A rs766821819 CYB5R1 Nonsynonymous SNV R31W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 303280 chr11 68700821 68700821 C T rs140654955 IGHMBP2 Synonymous SNV Y430Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.232 303281 chr1 203152860 203152860 G A rs140857184 CHI3L1 Nonsynonymous SNV P125L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.652 303282 chr1 203186262 203186262 C T rs774336439 CHIT1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 303283 chr1 204006180 204006180 C G rs532017579 LINC00303 0 0 0.003 0 0 0 0 1 0 0 0 0 3.798 303284 chr2 3502841 3502841 C T ADI1 Nonsynonymous SNV A139T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 303285 chr2 3502849 3502849 T A ADI1 Nonsynonymous SNV Y136F 0.002 0 0 0 2 0 0 0 0 0 0 0 17.38 303286 chr10 29759334 29759334 C T rs148360729 SVIL Nonsynonymous SNV S1479N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 303287 chr2 9631255 9631255 T C ADAM17 Nonsynonymous SNV E703G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 303288 chr2 11317897 11317897 T A rs749648511 SLC66A3 Nonsynonymous SNV N170K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 303289 chr1 206858726 206858726 G T rs146073998 MAPKAPK2 Nonsynonymous SNV G51V 0 0 0.007 0 0 0 0 2 0 0 1 0 12.76 303290 chr2 11755295 11755295 G A rs369661344 GREB1 Synonymous SNV L1067L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.13 303291 chr1 207300160 207300160 G A rs573344831 C4BPA Nonsynonymous SNV G270D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 303292 chr1 207755348 207755348 C T rs201880876 CR1 Nonsynonymous SNV H1318Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 303293 chr5 41005676 41005676 G A MROH2B Nonsynonymous SNV S1274F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 303294 chr5 41005679 41005679 G A rs372367806 MROH2B Nonsynonymous SNV S1273F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 303295 chr1 20980169 20980169 C T rs117925699 DDOST Nonsynonymous SNV R315Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.9 303296 chr5 413521 413521 G A rs188075736 AHRR Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 303297 chr1 211527807 211527807 G A rs201150771 TRAF5 Nonsynonymous SNV E92K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 303298 chr1 213414543 213414543 A G rs56060894 RPS6KC1 Nonsynonymous SNV N110S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.132 303299 chr1 216419976 216419976 G A rs545884990 USH2A Synonymous SNV C920C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 303300 chr5 55439640 55439640 G A rs376260776 ANKRD55 Synonymous SNV H200H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.406 303301 chr5 56178355 56178355 G A rs1038244253 MAP3K1 Nonsynonymous SNV E1110K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 303302 chr1 222721321 222721321 A T HHIPL2 Synonymous SNV S22S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.845 303303 chr11 1260758 1260758 C T MUC5B Nonsynonymous SNV P1182L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 303304 chr5 64925573 64925573 T G rs560440822 SHLD3 Synonymous SNV P53P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.291 303305 chr11 128709589 128709589 G A rs779864905 KCNJ1 Nonsynonymous SNV R203W 0.001 0 0 0 1 0 0 0 0 0 0 0 27 303306 chr1 226050207 226050207 - TGA TMEM63A I299_N300insI 0 0 0.003 0 0 0 0 1 0 0 0 0 303307 chr10 63170122 63170122 C T rs367837185 TMEM26 Synonymous SNV R355R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.37 303308 chr1 228033184 228033184 C T rs139316256 PRSS38 Synonymous SNV D199D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.578 303309 chr1 228491471 228491471 G A rs570955919 OBSCN Nonsynonymous SNV V4612M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 303310 chr5 78350067 78350067 T C rs1057522583 DMGDH Synonymous SNV E160E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.327 303311 chr1 201038650 201038650 C T rs139956524 CACNA1S Nonsynonymous SNV A814T 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 303312 chr10 73111522 73111522 G A rs142951844 SLC29A3 Nonsynonymous SNV R196K 0 0 0 1 0 0 0.003 0 0 0 0 0 17.87 303313 chr11 121420792 121420792 G A rs774416406 SORL1 Synonymous SNV T725T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 303314 chr2 64780206 64780206 A G rs201724817 AFTPH Nonsynonymous SNV E533G 0.002 0 0 0 2 0 0 0 0 0 0 0 13.88 303315 chr1 236716946 236716946 C T rs560358292 HEATR1 Nonsynonymous SNV D2058N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 303316 chr1 23696219 23696219 C T rs769817612 ZNF436-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 303317 chr1 241797442 241797442 G C rs760842619 CHML Nonsynonymous SNV L543V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 303318 chr11 124738837 124738837 C T rs750665422 ROBO3 Synonymous SNV N100N 0.003 0 0 0 3 0 0 0 0 0 0 0 15.45 303319 chr11 27389449 27389449 G T rs201095301 LGR4 Nonsynonymous SNV R917S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 303320 chr1 2444342 2444342 G A PANK4 Nonsynonymous SNV A571V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303321 chr1 247040572 247040572 T C rs554869556 AHCTF1 Nonsynonymous SNV Q898R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.23 303322 chr10 88703752 88703752 A G rs201538506 MMRN2 Synonymous SNV S263S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.245 303323 chr2 73799792 73799792 G C rs45445398 ALMS1 Synonymous SNV V3595V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.257 303324 chr1 247835529 247835529 G A rs778897652 OR13G1 Nonsynonymous SNV A272V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 303325 chr1 24795579 24795579 C T rs775644345 NIPAL3 Synonymous SNV Y214Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 303326 chr2 84852123 84852123 A G rs371932584 DNAH6 Nonsynonymous SNV D1484G 0.002 0 0 1 2 0 0.003 0 0 0 0 0 29.5 303327 chr6 119297101 119297101 A G FAM184A Nonsynonymous SNV I735T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.89 303328 chr11 1651198 1651198 - GGGCTGTGGCTC rs778993095 KRTAP5-5 G46_G47insSGCG 0.001 0 0 0 1 0 0 0 0 0 0 0 303329 chr11 1651199 1651199 A C KRTAP5-5 Synonymous SNV G43G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 303330 chr2 38302291 38302291 A T rs9282671 CYP1B1 Nonsynonymous SNV Y81N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 303331 chr1 25573289 25573289 T C rs565554082 RSRP1 Nonsynonymous SNV R56G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.766 303332 chr1 25783316 25783316 G A rs754725708 MACO1 Nonsynonymous SNV E216K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 303333 chr2 39552721 39552721 A G rs150302898 MAP4K3 Synonymous SNV L286L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.862 303334 chr1 26147276 26147279 CTCA - rs550412869 LOC646471 0 0 0.003 0 0 0 0 1 0 0 0 0 303335 chr1 26514993 26514993 C T rs575043860 CNKSR1 Nonsynonymous SNV S537L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 303336 chr6 134158756 134158756 C T rs976973514 LINC01312 0 0 0.003 0 0 0 0 1 0 0 0 0 4.559 303337 chr6 134785921 134785921 G A rs80282174 LINC01010 0 0 0.003 0 0 0 0 1 0 0 0 0 9.693 303338 chr2 101624325 101624325 C T rs754948801 TBC1D8 Nonsynonymous SNV M1127I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.59 303339 chr6 137814620 137814620 C G OLIG3 Nonsynonymous SNV G230R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 303340 chr6 138202276 138202276 G T TNFAIP3 Nonsynonymous SNV E731D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.048 303341 chr2 44547692 44547692 C T rs749314531 SLC3A1 Nonsynonymous SNV R658C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 303342 chr2 102851461 102851461 G C IL1RL2 Nonsynonymous SNV E326Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 303343 chr2 48822424 48822424 G C rs116147474 STON1 Nonsynonymous SNV D731H 0.002 0 0 0 2 0 0 0 0 0 0 0 21.9 303344 chr1 32050891 32050963 AATAACAATGACATCTACCAGGTCACTCCTGTCTACCGCCTCGGCTCCAACGTAAGTCAGCACTTGGGTGAGG - TINAGL1 N302_N318del 0 0 0.003 0 0 0 0 1 0 0 0 0 303345 chr2 55054839 55054839 A G rs191679730 EML6 Nonsynonymous SNV Y221C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 303346 chr6 147635108 147635108 C G rs144099092 STXBP5 Nonsynonymous SNV L412V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 303347 chr1 3386067 3386067 T G rs553627615 ARHGEF16 Nonsynonymous SNV L311R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.27 303348 chr1 33960637 33960637 C T rs371524177 ZSCAN20 Nonsynonymous SNV T898M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 303349 chr1 34008390 34008390 G A rs577622122 CSMD2 Synonymous SNV Y2925Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.606 303350 chr1 34035029 34035029 C T rs755628428 CSMD2 Synonymous SNV R2692R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 303351 chr2 60688739 60688739 G A rs142120696 BCL11A Synonymous SNV V402V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.407 303352 chr1 34631404 34631404 A G rs551509744 CSMD2 Nonsynonymous SNV I4T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.432 303353 chr1 38186178 38186178 C T rs200540751 EPHA10 Nonsynonymous SNV G753R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303354 chr6 158508020 158508020 A G SYNJ2 Synonymous SNV P877P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 303355 chr2 127821511 127821511 G T rs143820618 BIN1 Nonsynonymous SNV N201K 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 28.1 303356 chr1 40431006 40431006 G T rs368484982 MFSD2A Synonymous SNV T3T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 303357 chr1 42047625 42047625 C T rs563544671 HIVEP3 Synonymous SNV S948S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 303358 chr11 103270561 103270561 A G rs746071031 DYNC2H1 Synonymous SNV S4109S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.758 303359 chr1 43738514 43738514 G T rs761000858 TMEM125 Nonsynonymous SNV A41S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 303360 chr2 85617291 85617291 C T ELMOD3 Synonymous SNV P282P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 303361 chr1 45293645 45293645 C T PTCH2 Nonsynonymous SNV R643Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 303362 chr2 149522554 149522554 G A EPC2 Nonsynonymous SNV A327T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 303363 chr1 45481061 45481061 G A rs121918066 UROD Nonsynonymous SNV R332H 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 23.4 303364 chr2 85780560 85780560 C T rs375332039 GGCX Nonsynonymous SNV R260Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 303365 chr1 47101553 47101553 A G rs780469505 ATPAF1 Synonymous SNV F249F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.66 303366 chr1 47144187 47144187 G A rs146172273 EFCAB14 Synonymous SNV S478S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.29 303367 chr11 429618 429618 G A rs141707817 ANO9 Synonymous SNV R145R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.167 303368 chr6 170592124 170592124 C T rs772940510 DLL1 Synonymous SNV S706S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 303369 chr1 236882296 236882296 T C ACTN2 Nonsynonymous SNV V115A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 303370 chr6 20131398 20131398 G T rs368072391 MBOAT1 Nonsynonymous SNV T151N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 303371 chr1 55075010 55075010 C T rs570204209 FAM151A Synonymous SNV R563R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 303372 chr6 25109794 25109794 G A rs200464185 CMAHP 0 0 0.007 0 0 0 0 2 0 0 0 0 17.59 303373 chr1 55158153 55158153 C T rs766638802 MROH7 Nonsynonymous SNV T441I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 303374 chr1 57481000 57481000 G A rs575241471 DAB1 Nonsynonymous SNV P334S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 303375 chr11 118011921 118011923 CTT - rs587782976 SCN4B K64Efs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 303376 chr2 170103911 170103911 G A rs575919892 LRP2 Nonsynonymous SNV S962L 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 13.05 303377 chr2 105665736 105665736 C T rs149715863 MRPS9 Synonymous SNV F81F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 303378 chr1 62365321 62365321 G A rs116844048 PATJ Synonymous SNV P1066P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 303379 chr1 62503652 62503652 C T rs150419545 PATJ Synonymous SNV N1321N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 303380 chr11 48286027 48286027 C T rs776306097 OR4X1 Synonymous SNV S205S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.667 303381 chr11 120983879 120983879 C T rs372185673 TECTA Synonymous SNV G195G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.33 303382 chr6 33630408 33630408 C T rs769457606 ITPR3 Nonsynonymous SNV S272F 0 0 0.007 0 0 0 0 2 0 0 0 0 26.7 303383 chr2 179410649 179410649 G A TTN Nonsynonymous SNV L22707F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.95 303384 chr12 48387243 48387243 T C rs755868094 COL2A1 Nonsynonymous SNV M254V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 303385 chr2 179423350 179423350 G C rs748587720 TTN Nonsynonymous SNV P19881A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.87 303386 chr1 67243102 67243102 G A rs367743410 TCTEX1D1 Nonsynonymous SNV A169T 0 0 0.003 0 0 0 0 1 0 0 0 0 31 303387 chr1 67515482 67515482 T G rs532984010 SLC35D1 Synonymous SNV G172G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.149 303388 chr2 179511255 179511255 T C TTN Synonymous SNV E13418E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 303389 chr1 82416056 82416056 T C rs560176083 ADGRL2 Nonsynonymous SNV I461T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.309 303390 chr6 38998151 38998151 T C rs143828709 DNAH8 Synonymous SNV L4486L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.66 303391 chr1 87597853 87597853 G T LINC01140 0 0 0.003 0 0 0 0 1 0 0 0 0 6.656 303392 chr1 89618006 89618006 A C rs540928843 GBP7 Nonsynonymous SNV D190E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.849 303393 chr1 9097840 9097840 G A rs371723590 SLC2A5 Synonymous SNV L290L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.952 303394 chr1 91182528 91182528 C A rs141603891 BARHL2 Synonymous SNV P75P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 303395 chr1 9188876 9188876 T C rs61785839 GPR157 Nonsynonymous SNV N71D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.527 303396 chr1 9188967 9188967 G C rs77649572 GPR157 Synonymous SNV P40P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.28 303397 chr1 94476430 94476430 A T rs374811709 ABCA4 Nonsynonymous SNV F1880L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 303398 chr1 95322914 95322914 G A rs750325501 SLC44A3 Nonsynonymous SNV G330S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303399 chr2 167099092 167099092 T C SCN9A Nonsynonymous SNV K1183E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 303400 chr20 10623149 10623149 G A rs201234393 JAG1 Synonymous SNV A853A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.48 303401 chr6 51890409 51890409 G A rs191201723 PKHD1 Nonsynonymous SNV S1400L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.5 303402 chr2 168104657 168104657 A G rs564136417 XIRP2 Nonsynonymous SNV D2030G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 303403 chr20 1220049 1220049 C T rs555126409 RAD21L1 Nonsynonymous SNV A247V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.727 303404 chr6 54214623 54214623 C G rs149997439 TINAG Nonsynonymous SNV P337A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.8 303405 chr2 172930380 172930380 A G rs182864473 METAP1D Nonsynonymous SNV I15V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.24 303406 chr6 73900407 73900407 A G rs116950019 KCNQ5 Synonymous SNV R453R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.84 303407 chr2 219487442 219487442 C T rs748468529 PLCD4 Nonsynonymous SNV R205C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303408 chr2 37035804 37035804 C T rs769318443 VIT Nonsynonymous SNV R491C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 303409 chr20 23066646 23066646 T A rs200399999 CD93 Nonsynonymous SNV T62S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 303410 chr2 56108833 56108833 C G EFEMP1 Nonsynonymous SNV R185T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 303411 chr20 2592982 2592982 G T rs558902975 TMC2 Nonsynonymous SNV G580V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 303412 chr20 31383299 31383299 A G rs143462810 DNMT3B Nonsynonymous SNV Y308C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.81 303413 chr2 68613649 68613649 A T PLEK Nonsynonymous SNV D163V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.7 303414 chr20 31659102 31659102 G A rs146981368 BPIFB3 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 303415 chr20 34218835 34218835 T C rs532357764 CPNE1 Nonsynonymous SNV Q328R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 303416 chr20 35827503 35827503 G A rs553035371 RPN2 Synonymous SNV E86E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 303417 chr20 36022652 36022652 C T rs559060103 SRC Synonymous SNV F175F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 303418 chr2 234189778 234189778 C T rs766364379 ATG16L1 Nonsynonymous SNV S200F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 303419 chr20 36769778 36769778 G A rs527497535 TGM2 Synonymous SNV H254H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.593 303420 chr20 36869075 36869075 C T rs543400408 KIAA1755 Synonymous SNV P486P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 303421 chr20 39634553 39634553 G C LOC100128988 0 0 0.003 0 0 0 0 1 0 0 0 0 6.248 303422 chr20 39713158 39713158 - GAC rs532570747 TOP1 D189_N190insD 0 0 0.003 0 0 0 0 1 0 0 0 0 303423 chr20 42979374 42979374 G T rs763774358 R3HDML Nonsynonymous SNV S235I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.9 303424 chr11 57089296 57089296 C T rs774331470 TNKS1BP1 Nonsynonymous SNV E22K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 303425 chr2 207513463 207513463 G A rs756571465 FAM237A Nonsynonymous SNV R164H 0.002 0 0 0 2 0 0 0 0 0 0 0 2.697 303426 chr11 66114948 66114948 C G rs146812867 B4GAT1 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.06 303427 chr11 67166522 67166522 G A rs779248725 PPP1CA Synonymous SNV D168D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.647 303428 chr11 67219810 67219810 C T rs145363353 GPR152 Nonsynonymous SNV R129H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 32 303429 chr2 209204271 209204271 G A PIKFYVE Nonsynonymous SNV S1601N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 303430 chr20 47895702 47895702 A G rs80318192 ZFAS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.745 303431 chr20 49458413 49458413 C T rs111708986 BCAS4 Synonymous SNV S155S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 303432 chr20 51871712 51871712 C G rs543394530 TSHZ2 Nonsynonymous SNV T569S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.693 303433 chr7 109599913 109599913 A G rs527819758 EIF3IP1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.038 303434 chr20 52786194 52786194 G T rs377696502 CYP24A1 Nonsynonymous SNV L193I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.15 303435 chr20 5283303 5283303 C T rs543677594 PROKR2 Nonsynonymous SNV V180M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 303436 chr11 59480990 59480990 C A OR10V1 Nonsynonymous SNV G110V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.466 303437 chr2 219507012 219507012 G A rs143999880 ZNF142 Synonymous SNV A1409A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.27 303438 chr20 57266487 57266487 - A rs538087084 STX16-NPEPL1 0 0 0.003 0 0 0 0 1 0 0 0 0 303439 chr11 73988031 73988031 G A rs150789452 P4HA3 Nonsynonymous SNV T445M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 303440 chr11 61254658 61254658 G A rs758688870 PPP1R32 Nonsynonymous SNV R310Q 0.003 0 0 0 3 0 0 0 0 0 0 0 14.9 303441 chr20 60889639 60889639 C T rs199827944 LAMA5 Nonsynonymous SNV R2780H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 303442 chr11 61675053 61675053 G A RAB3IL1 Nonsynonymous SNV T162M 0.003 0 0 0 3 0 0 0 0 0 0 0 34 303443 chr20 60928173 60928173 C A rs578173746 LAMA5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.141 303444 chr3 13378400 13378400 C T rs778485061 NUP210 Nonsynonymous SNV G1191S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 303445 chr2 125284870 125284870 G A rs539898795 CNTNAP5 Nonsynonymous SNV D496N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 303446 chr11 62601944 62601944 T C rs368515295 WDR74 Nonsynonymous SNV Y225C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 303447 chr11 76982240 76982240 C T rs752535124 GDPD4 Nonsynonymous SNV S112N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 303448 chr2 113742458 113742458 G A rs917063043 IL36G Synonymous SNV V79V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.954 303449 chr11 63273932 63273932 T C rs61733846 LGALS12 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 303450 chr11 63276382 63276382 G A rs35580553 LGALS12 Synonymous SNV R58R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 303451 chr20 62196029 62196029 G A rs371154603 HELZ2 Synonymous SNV D813D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.177 303452 chr2 113940052 113940052 C T rs775093151 PSD4 Nonsynonymous SNV L7F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 303453 chr7 139167926 139167926 C G rs754184625 KLRG2 Nonsynonymous SNV V155L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 303454 chr20 62493005 62493005 G A rs755378114 ABHD16B Nonsynonymous SNV V38M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 303455 chr20 62494191 62494191 G C rs369855711 ABHD16B Nonsynonymous SNV R433P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 303456 chr20 62574021 62574021 C G rs367570577 MIR647 0 0 0.003 0 0 0 0 1 0 0 0 0 5.867 303457 chr20 62591290 62591290 C T rs373018067 ZNF512B Nonsynonymous SNV R877Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 303458 chr11 55860816 55860816 C T rs764865092 OR8I2 Synonymous SNV V11V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.717 303459 chr7 142482367 142482367 C T rs751504746 PRSS3P2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.599 303460 chr7 142482371 142482371 T C rs757019313 PRSS3P2 0 0 0.003 0 0 0 0 1 0 0 0 0 1.24 303461 chr7 142482372 142482372 G A rs745538559 PRSS3P2 0 0 0.003 0 0 0 0 1 0 0 0 0 4.02 303462 chr7 142482376 142482376 A G PRSS3P2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.77 303463 chr21 19638327 19638327 C G rs375116292 CHODL Nonsynonymous SNV P190A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.021 303464 chr7 142983088 142983088 C T TMEM139 Nonsynonymous SNV P13L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 303465 chr21 30410673 30410673 A G rs145151080 USP16 Synonymous SNV P217P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.331 303466 chr2 153486392 153486392 T C FMNL2 Synonymous SNV Y841Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.2 303467 chr3 39374365 39374366 AC - CCR8 Q182Vfs*38 0.002 0 0 0 2 0 0 0 0 0 0 0 303468 chr2 241508283 241508283 - CCG rs765704830 RNPEPL1 A98_E99insA 0.001 0 0.003 0 1 0 0 1 0 0 0 0 303469 chr11 993813 993813 G A AP2A2 Nonsynonymous SNV R538H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303470 chr2 152515611 152515611 A G rs748458556 NEB Synonymous SNV L2015L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.466 303471 chr12 100704953 100704953 C T rs140838919 SCYL2 Synonymous SNV T204T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 303472 chr12 100995483 100995483 T A rs146542804 GAS2L3 Synonymous SNV I85I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 303473 chr11 65685293 65685293 C T rs7947619 C11orf68 Nonsynonymous SNV M173I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 303474 chr2 242192378 242192378 C T HDLBP Nonsynonymous SNV A423T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 303475 chr11 66616598 66616598 C T rs751977282 PC Synonymous SNV K1103K 0.003 0 0 0 3 0 0 0 0 0 0 0 12.51 303476 chr12 10658720 10658720 A G rs189377417 EIF2S3B Synonymous SNV L73L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.495 303477 chr11 68696654 68696654 C T rs142062146 IGHMBP2 Nonsynonymous SNV A355V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 303478 chr21 44492171 44492171 G A rs201372812 CBS, CBSL Nonsynonymous SNV R45W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 303479 chr11 62600564 62600564 G A WDR74 Synonymous SNV L321L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.955 303480 chr21 45400872 45400872 C T rs371543414 AGPAT3 Synonymous SNV D282D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.159 303481 chr21 45773682 45773682 C T rs576369479 TRPM2 Synonymous SNV L33L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.953 303482 chr11 63487108 63487108 T G rs762365207 RTN3 Nonsynonymous SNV N266K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 303483 chr12 111956065 111956065 C T rs145810958 ATXN2 Nonsynonymous SNV V256I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 303484 chr12 112601076 112601076 G T rs756987830 MIR6861 0.001 0 0 0 1 0 0 0 0 0 0 0 0.679 303485 chr21 46897380 46897380 C A rs563744859 COL18A1 Synonymous SNV T508T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 303486 chr3 51990373 51990373 C T GPR62 Synonymous SNV P235P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 303487 chr3 52248131 52248131 G A ALAS1 Nonsynonymous SNV V620M 0.001 0 0 0 1 0 0 0 0 0 0 0 21 303488 chr11 64892044 64892044 G T rs368037720 MRPL49 Nonsynonymous SNV R50L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 303489 chr22 17590037 17590037 G A rs559058243 IL17RA Nonsynonymous SNV G609E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 303490 chr22 18379534 18379534 C T MICAL3 Nonsynonymous SNV G388R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 303491 chr3 54604122 54604122 C T CACNA2D3 Synonymous SNV N293N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.92 303492 chr22 19005838 19005838 T C DGCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 1.59 303493 chr7 37988611 37988611 A G rs79772683 EPDR1 Nonsynonymous SNV T86A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 303494 chr3 33600877 33600877 T C CLASP2 Synonymous SNV R765R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.329 303495 chr22 19885565 19885565 G A rs536545192 TXNRD2 Synonymous SNV D257D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.648 303496 chr7 38725996 38725996 G C rs369258783 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 2.245 303497 chr11 77784062 77784062 C T rs141428783 NDUFC2, NDUFC2-KCTD14 Nonsynonymous SNV E98K 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 303498 chr2 189852838 189852838 C T rs371583734 COL3A1 Nonsynonymous SNV T187I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.6 303499 chr22 21384598 21384598 C T rs148642327 SLC7A4 Nonsynonymous SNV R342H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 303500 chr11 60777150 60777150 A G rs765158654 CD6 Synonymous SNV P296P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.254 303501 chr22 21998350 21998350 G T rs776605191 SDF2L1 Synonymous SNV G184G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 303502 chr2 203058211 203058211 G A rs553978732 KIAA2012 Nonsynonymous SNV R1000H 0 0 0 2 0 0 0.005 0 0 0 0 0 22 303503 chr3 67570981 67570981 G T rs200035351 SUCLG2 Synonymous SNV P165P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.136 303504 chr11 61121436 61121436 C T rs79125008 CYB561A3 Synonymous SNV S71S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.11 303505 chr12 124191550 124191550 A G rs769763960 TCTN2 Synonymous SNV T637T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.324 303506 chr22 25570305 25570305 C T rs868786663 KIAA1671 Nonsynonymous SNV S1583L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 303507 chr11 62295129 62295129 G C rs770287285 AHNAK Nonsynonymous SNV P2254A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 303508 chr22 26423239 26423239 C T rs554059290 MYO18B Synonymous SNV Y2434Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.025 303509 chr22 26849311 26849311 T C rs747600132 HPS4 Nonsynonymous SNV Q667R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 303510 chr12 129190603 129190603 C T rs375341419 TMEM132C Synonymous SNV D1030D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.104 303511 chr7 48390339 48390339 G A rs756038088 ABCA13 Nonsynonymous SNV R3435H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303512 chr7 50513797 50513797 G A rs145459309 FIGNL1 Nonsynonymous SNV P397S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 303513 chr11 6292450 6292450 - T rs769278521 CCKBR Frameshift insertion L260Sfs*8 0 0 0 1 0 0 0.003 0 0 0 0 0 303514 chr22 30771298 30771298 T C KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 3.521 303515 chr11 93462891 93462891 A T rs771438190 CEP295 Nonsynonymous SNV K2504I 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 303516 chr7 5540564 5540564 G T rs961752222 FBXL18 Nonsynonymous SNV R446S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.269 303517 chr22 31484568 31484568 C T rs767594100 SMTN Synonymous SNV N146N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 303518 chr22 31486854 31486854 C A rs201342047 SMTN Nonsynonymous SNV A365D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.4 303519 chr3 46062460 46062460 T C rs755920719 XCR1 Nonsynonymous SNV Y327C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 303520 chr22 31679102 31679102 G C rs748160839 PIK3IP1 Nonsynonymous SNV L254V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 303521 chr22 31957326 31957326 G A rs201980284 SFI1 Nonsynonymous SNV R156H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 303522 chr3 47040221 47040221 G A rs769595371 NBEAL2 Nonsynonymous SNV R1045H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 303523 chr11 72410143 72410143 G A rs779347418 ARAP1 Synonymous SNV H510H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 303524 chr2 211336713 211336713 G A rs142719586 LANCL1 Nonsynonymous SNV R57W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303525 chr12 15103554 15103554 G C rs767661660 ARHGDIB Synonymous SNV S31S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.75 303526 chr11 73071552 73071552 C A rs2298808 ARHGEF17 Nonsynonymous SNV A1465D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 303527 chr2 215275027 215275027 A C rs746011924 SPAG16 Synonymous SNV R628R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.132 303528 chr11 73679447 73679447 C T rs146910386 DNAJB13 Nonsynonymous SNV R222C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 303529 chr3 48624487 48624487 T C rs200159826 COL7A1 Nonsynonymous SNV N1065S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.962 303530 chr22 38019438 38019438 C T rs368154696 GGA1 Synonymous SNV G238G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 303531 chr12 101603467 101603467 C T rs149707334 SLC5A8 Nonsynonymous SNV A54T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 303532 chr3 50005360 50005360 A G rs957195994 RBM6 Nonsynonymous SNV R168G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 303533 chr3 51907913 51907913 G A rs772101978 IQCF5 Nonsynonymous SNV R95C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 27.1 303534 chr11 76826528 76826528 C T rs373951153 CAPN5 Nonsynonymous SNV R263C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 303535 chr7 83119442 83119442 G A rs142305186 SEMA3E Synonymous SNV D28D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.94 303536 chr11 65617683 65617683 C T rs143066310 SNX32 Synonymous SNV G105G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.09 303537 chr2 220079173 220079173 T C rs766418504 ABCB6 Nonsynonymous SNV M396V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 303538 chr12 29670502 29670502 G A TMTC1 Nonsynonymous SNV A676V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303539 chr12 106641516 106641521 CGGCGG - CKAP4 P37_P38del 0.001 0 0 0 1 0 0 0 0 0 0 0 303540 chr22 42607193 42607193 C T rs533790420 TCF20 Synonymous SNV A1373A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.8 303541 chr7 92735255 92735255 T C rs767794991 SAMD9 Synonymous SNV E52E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 303542 chr3 123166275 123166275 T G rs963758797 ADCY5 Nonsynonymous SNV Q373P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 303543 chr12 109661700 109661700 G T rs145779356 ACACB Synonymous SNV A1291A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.19 303544 chr11 66466915 66466915 G A rs779091056 SPTBN2 Synonymous SNV A1246A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.24 303545 chr11 66468071 66468071 G A SPTBN2 Nonsynonymous SNV R1167C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 303546 chr7 99032571 99032571 G A rs201365604 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R99W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.8 303547 chr3 124438238 124438238 G A KALRN Nonsynonymous SNV R1263H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 303548 chr12 110221570 110221570 C T rs149988106 TRPV4 Synonymous SNV S717S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 16.67 303549 chr22 45958813 45958813 C A FBLN1 Stop gain C573X 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 303550 chr12 11091105 11091105 G T rs769748875 PRH1-TAS2R14, TAS2R14 Synonymous SNV I234I 0.003 0 0 0 3 0 0 0 0 0 0 0 2.132 303551 chr11 67431200 67431200 G T rs4646826 ALDH3B2 Nonsynonymous SNV S302R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 303552 chr3 126137618 126137618 G A rs148001278 CFAP100 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 303553 chr22 50355419 50355419 G C rs139268901 PIM3 Synonymous SNV S192S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.642 303554 chr3 71821964 71821964 G A rs144953748 PROK2 Nonsynonymous SNV R80W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303555 chr22 50659237 50659237 C T rs139409990 TUBGCP6 Nonsynonymous SNV R1184Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 303556 chr3 97593388 97593408 CAATTGGGACAGAAGTAACCC - rs778477951 CRYBG3 I1118_P1124del 0.001 0 0 0 1 0 0 0 0 0 0 0 303557 chr8 105361628 105361628 T C DCSTAMP Nonsynonymous SNV F283S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 303558 chr14 69704404 69704404 T C rs36018174 EXD2 Nonsynonymous SNV Y344H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 303559 chr3 100035018 100035018 A C rs768713544 TBC1D23 Nonsynonymous SNV E543D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 303560 chr12 50725564 50725564 G A rs781282987 FAM186A Nonsynonymous SNV P2246L 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 303561 chr3 138188974 138188974 C T rs144969243 ESYT3 Nonsynonymous SNV R526W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 303562 chr2 112813324 112813324 A C TMEM87B Synonymous SNV T52T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.247 303563 chr2 113082128 113082128 T C rs759908933 ZC3H6 Synonymous SNV G580G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.261 303564 chr3 3887996 3887996 G A rs745627734 LRRN1 Synonymous SNV S557S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.307 303565 chr3 4358082 4358082 G A SETMAR Nonsynonymous SNV E115K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.68 303566 chr3 153840477 153840477 C T rs1030997463 ARHGEF26 Synonymous SNV S232S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 303567 chr2 121223820 121223820 C T rs1002183469 LINC01101 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 303568 chr12 53457540 53457540 C T rs771619962 TNS2 Synonymous SNV F1378F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 303569 chr2 125367397 125367397 C T rs567929192 CNTNAP5 Synonymous SNV C592C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 303570 chr2 135976683 135976683 T C rs145206010 ZRANB3 Synonymous SNV L770L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.203 303571 chr2 137814301 137814301 C A THSD7B Synonymous SNV R151R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 303572 chr2 138759665 138759665 C T HNMT Synonymous SNV N110N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 303573 chr2 142012201 142012201 G A rs779330134 LRP1B Nonsynonymous SNV S118F 0 0 0.007 0 0 0 0 2 0 0 1 0 5.323 303574 chr2 158300454 158300454 A G rs527460793 CYTIP Nonsynonymous SNV Y27H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.103 303575 chr12 118511774 118511774 G A rs779176372 VSIG10 Nonsynonymous SNV P317S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 303576 chr12 15794695 15794695 G A rs149455769 EPS8 Synonymous SNV N546N 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.55 303577 chr3 184099792 184099792 C T rs776211729 CHRD Nonsynonymous SNV P228L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 303578 chr2 162903432 162903432 C T rs544381314 DPP4 Nonsynonymous SNV S93N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.24 303579 chr12 58174038 58174038 G C rs113423250 EEF1AKMT3 Nonsynonymous SNV G97A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 303580 chr8 144947113 144947113 C T EPPK1 Synonymous SNV L103L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 303581 chr3 126228436 126228436 C T rs148075272 UROC1 Nonsynonymous SNV V115M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 33 303582 chr2 170032956 170032956 G A rs531013104 LRP2 Synonymous SNV C3512C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.022 303583 chr2 170044496 170044496 G A rs538919316 LRP2 Synonymous SNV S3104S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 303584 chr2 171248960 171248960 C T rs369862213 MYO3B Synonymous SNV F582F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 303585 chr3 130098301 130098301 C A rs761224380 COL6A5 Nonsynonymous SNV D236E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 303586 chr8 146036242 146036242 A G rs528841858 LOC100130027 0 0 0.003 0 0 0 0 1 0 0 0 0 7.161 303587 chr3 38835270 38835270 G C rs753292241 SCN10A Nonsynonymous SNV P78A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 303588 chr3 38991733 38991733 T C SCN11A Nonsynonymous SNV K41E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.319 303589 chr2 176794797 176794797 A C rs764162359 LNPK Synonymous SNV T272T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 303590 chr2 178082479 178082479 T C rs565414173 HNRNPA3 Synonymous SNV Y267Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.39 303591 chr8 17132462 17132462 A G rs17687375 VPS37A Nonsynonymous SNV I188V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 303592 chr3 134086462 134086462 C T rs531492024 AMOTL2 Synonymous SNV S364S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.66 303593 chr2 179482210 179482210 - AGT TTN T6802_S6803insT 0 0 0.003 0 0 0 0 1 0 0 0 0 303594 chr8 19277963 19277963 A G rs759203320 CSGALNACT1 Synonymous SNV L340L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.103 303595 chr8 195907 195907 G A rs561813298 ZNF596 Nonsynonymous SNV E354K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 303596 chr8 2046806 2046806 G A rs148833861 MYOM2 Synonymous SNV P811P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.462 303597 chr8 21964944 21964944 C T rs201204920 NUDT18 Nonsynonymous SNV S280N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.778 303598 chr2 179641167 179641167 C T rs750230812 TTN Synonymous SNV E1762E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.092 303599 chr3 151082879 151082879 C T rs752088273 MED12L Nonsynonymous SNV R989C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 303600 chr2 182388206 182388206 G A rs202036768 ITGA4 Nonsynonymous SNV V706M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 303601 chr3 155199976 155199976 T C PLCH1 Nonsynonymous SNV D1280G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.312 303602 chr3 47046703 47046703 T C NBEAL2 Nonsynonymous SNV I2117T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.49 303603 chr12 49443616 49443616 C T rs753048826 KMT2D Nonsynonymous SNV R1252Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 303604 chr4 3227464 3227464 C T rs200527929 HTT Synonymous SNV L2614L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.67 303605 chr2 196573475 196573475 T C rs528514910 SLC39A10 Synonymous SNV A494A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.99 303606 chr2 197781275 197781275 A G rs550427659 PGAP1 Nonsynonymous SNV I115T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 303607 chr8 39644527 39644527 A G rs748753139 ADAM2 Nonsynonymous SNV M267T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 303608 chr2 201680436 201680436 C T rs558852524 BZW1 Synonymous SNV C37C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 303609 chr2 202005063 202005063 C T rs750201907 CFLAR-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 303610 chr12 125441372 125441372 C T rs754858470 DHX37 Nonsynonymous SNV R773Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 303611 chr2 207395631 207395631 G A rs571232348 ADAM23 Nonsynonymous SNV V178M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 303612 chr12 132414554 132414554 G T PUS1 Nonsynonymous SNV W31C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 303613 chr2 20870462 20870462 G A rs551302606 GDF7 Synonymous SNV A210A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 303614 chr2 208841462 208841462 G A rs200329503 PLEKHM3 Nonsynonymous SNV R487C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303615 chr4 13604025 13604025 C T rs148464264 BOD1L1 Nonsynonymous SNV G1500E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.433 303616 chr8 68396044 68396044 C A rs140612122 CPA6 Nonsynonymous SNV R266L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.3 303617 chr8 77763712 77763712 C T rs767666885 ZFHX4 Nonsynonymous SNV R1519W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 303618 chr8 8235459 8235459 G A rs762959804 PRAG1 Nonsynonymous SNV R154C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 303619 chr3 195956874 195956874 G A rs9849888 SLC51A Nonsynonymous SNV R241H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 303620 chr3 196199120 196199120 A - RNF168 L429Rfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 303621 chr3 196387861 196387861 G T rs766553186 NRROS Synonymous SNV R449R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 303622 chr8 95718162 95718162 G C rs528498925 ESRP1 Nonsynonymous SNV D657H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.297 303623 chr2 220099650 220099652 GGA - rs748689495 ANKZF1 R229del 0 0 0.003 0 0 0 0 1 0 0 0 0 303624 chr12 58121444 58121444 C T rs746808977 AGAP2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.512 303625 chr9 100684741 100684741 - TAGGCC TRMO P11_T12insRP 0 0 0.003 0 0 0 0 1 0 0 0 0 303626 chr3 111671489 111671489 G A rs371213542 PHLDB2 Nonsynonymous SNV R858Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 303627 chr13 32365970 32365970 C T rs771377460 RXFP2 Synonymous SNV S367S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 303628 chr4 56890690 56890690 G A rs372409891 CEP135 Nonsynonymous SNV R1115H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 303629 chr2 228681053 228681053 C T rs150823624 CCL20 Synonymous SNV C73C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.692 303630 chr9 112200452 112200452 T C rs145013735 PTPN3 Nonsynonymous SNV I46V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 303631 chr12 41582553 41582553 C T rs768237204 PDZRN4 Nonsynonymous SNV A99V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 303632 chr4 73175213 73175213 C G ADAMTS3 Nonsynonymous SNV G694R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 303633 chr2 233126 233126 T C rs571497324 SH3YL1 Nonsynonymous SNV I170V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 303634 chr13 47409565 47409565 G A rs762338994 HTR2A Nonsynonymous SNV R191W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 303635 chr12 48524176 48524176 G C rs121918193 PFKM Nonsynonymous SNV R39P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 34 303636 chr2 238280595 238280595 C T rs766856187 COL6A3 Synonymous SNV P748P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.613 303637 chr9 119380660 119380660 C T rs750176628 ASTN2 Nonsynonymous SNV D152N 0 0 0.003 0 0 0 0 1 0 0 0 0 28 303638 chr4 13588089 13588089 T C rs376355355 BOD1L1 Synonymous SNV P2788P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 303639 chr2 239040220 239040220 C T rs190347409 ESPNL Synonymous SNV A587A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.148 303640 chr13 92345590 92345590 C A rs201542520 GPC5 Nonsynonymous SNV P159T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.48 303641 chr12 94772784 94772784 C A rs201341346 CEP83 Nonsynonymous SNV R120L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.82 303642 chr3 129034157 129034189 CCTTCTTGCCCCCGGCGGCCGCCGTCTTCTTGG - rs759828638 H1-10 A186_K196del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 303643 chr4 98865068 98865068 T C STPG2 Nonsynonymous SNV T342A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 303644 chr2 242035492 242035493 TT - rs562721473 MTERF4 Stop gain N168* 0 0 0.003 0 0 0 0 1 0 0 0 0 303645 chr9 129458164 129458164 G T rs145052881 LMX1B Synonymous SNV P322P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 303646 chr13 102051403 102051403 C T rs374635988 NALCN Synonymous SNV S25S 0.002 0 0 0 2 0 0 0 0 0 0 0 15.91 303647 chr2 242839459 242839459 C G rs573899660 LOC285095 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 303648 chr13 103394717 103394717 G A rs544625538 CCDC168 Nonsynonymous SNV T2777I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.58 303649 chr2 26712138 26712138 C T rs764248648 OTOF Nonsynonymous SNV R329H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 303650 chr2 26798866 26798866 G A rs531808422 FAM166C Nonsynonymous SNV M57I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 303651 chr2 27248518 27248518 C G rs180762184 MAPRE3 Synonymous SNV A179A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 303652 chr15 91553069 91553069 G A rs758641088 VPS33B Nonsynonymous SNV A95V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 303653 chr2 27804582 27804582 A G rs764615112 C2orf16 Nonsynonymous SNV K1715E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303654 chr2 27804590 27804590 C A rs749921596 C2orf16 Nonsynonymous SNV S1717R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303655 chr2 28050477 28050477 G A RBKS Nonsynonymous SNV P251L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 303656 chr12 550013 550013 C T rs189099875 CCDC77 Nonsynonymous SNV R359C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 303657 chr15 99512821 99512821 G C rs61743649 PGPEP1L Synonymous SNV G68G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.37 303658 chr2 29225562 29225562 C T rs553931673 TOGARAM2 Synonymous SNV D196D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.891 303659 chr12 56091033 56091033 T C rs767276735 ITGA7 Nonsynonymous SNV I64V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.292 303660 chr2 32889445 32889445 A G TTC27 Nonsynonymous SNV Y189C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 303661 chr4 126412637 126412637 G A rs35845544 FAT4 Nonsynonymous SNV R4888K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.06 303662 chr4 144135134 144135134 T G rs201213489 USP38 Nonsynonymous SNV C669G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 303663 chr9 139410437 139410437 C T rs148331061 NOTCH1 Synonymous SNV T555T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.5 303664 chr2 44513207 44513207 G A rs757239030 SLC3A1 Nonsynonymous SNV E268K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 303665 chr2 45640377 45640377 C G rs556291003 SRBD1 Nonsynonymous SNV D797H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.543 303666 chr2 53955977 53955977 G C rs538660122 ASB3, GPR75-ASB3 Nonsynonymous SNV A86G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 303667 chr13 38148748 38148748 C T rs151159390 POSTN Nonsynonymous SNV V684M 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 303668 chr2 54871645 54871645 C T rs376499463 SPTBN1 Synonymous SNV H1384H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 303669 chr2 54883077 54883077 G A rs367983027 SPTBN1 Synonymous SNV T1983T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.49 303670 chr2 55253933 55253933 G A rs149825421 RTN4 Synonymous SNV H228H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.145 303671 chr4 155505859 155505859 A G rs372547759 FGA Nonsynonymous SNV L673P 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 303672 chr2 62067079 62067079 G A rs769445913 FAM161A Stop gain R354X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 303673 chr2 64147734 64147734 T C rs201280229 VPS54 Nonsynonymous SNV M621V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 303674 chr2 67631006 67631006 G A rs199522906 ETAA1 Nonsynonymous SNV D398N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.138 303675 chr3 184280113 184280113 G A EPHB3 Synonymous SNV L30L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 303676 chr3 184023856 184023856 A G PSMD2 Nonsynonymous SNV I443V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 303677 chr2 70187809 70187809 G A rs140244507 ASPRV1 Nonsynonymous SNV R338W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 303678 chr14 50133060 50133060 C G POLE2 Synonymous SNV T162T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 303679 chr2 75105823 75105823 A G HK2 Nonsynonymous SNV D347G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 303680 chr2 75915015 75915015 C G rs201521372 GCFC2 Nonsynonymous SNV S374T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.719 303681 chr4 114278701 114278701 C G rs371343942 ANK2 Nonsynonymous SNV S2976C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 303682 chr2 84745092 84745092 A G rs759899365 DNAH6 Nonsynonymous SNV T48A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303683 chr9 27524409 27524409 C G rs374342901 IFNK Synonymous SNV T25T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.116 303684 chr2 86839364 86839364 T C rs200158355 RNF103 Nonsynonymous SNV K134E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 303685 chr14 58690529 58690529 A G ACTR10 Nonsynonymous SNV Y248C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 303686 chr4 125592992 125592992 T G ANKRD50 Synonymous SNV T301T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.146 303687 chr12 95604471 95604471 C A rs752968367 FGD6 Nonsynonymous SNV A197S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 303688 chr12 95879687 95879687 A G rs143687752 METAP2 Nonsynonymous SNV I97V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.054 303689 chr2 97217753 97217753 C G rs374017831 ARID5A Synonymous SNV P332P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.457 303690 chr9 37745025 37745025 T C rs377128806 FRMPD1 Nonsynonymous SNV I999T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303691 chr3 196388330 196388330 G A NRROS Nonsynonymous SNV A606T 0.003 0 0 0 4 0 0 0 0 0 0 0 4.13 303692 chr14 102486388 102486388 A G rs146220233 DYNC1H1 Synonymous SNV Q2834Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.043 303693 chr4 129873962 129873962 T C rs147782657 SCLT1 Nonsynonymous SNV I394V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 303694 chr14 102910038 102910038 C T rs373173535 TECPR2 Nonsynonymous SNV P936L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 303695 chr9 71865972 71865972 - AATCCTATGACTTCTCCA TJP2 Y905_E906insDFSKSY 0 0 0.003 0 0 0 0 1 0 0 0 0 303696 chr14 69994592 69994592 C G PLEKHD1 Nonsynonymous SNV R432G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 303697 chr3 112729946 112729946 C T rs200317749 NEPRO Nonsynonymous SNV V120I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 303698 chr3 113092348 113092348 C T rs751009539 CFAP44 Nonsynonymous SNV S785N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303699 chr14 73976075 73976075 T A rs756784707 HEATR4 Nonsynonymous SNV Y554F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 303700 chr9 95027288 95027288 C T rs148687253 IARS Synonymous SNV P541P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 303701 chr14 20839437 20839437 G A rs140013777 TEP1 Synonymous SNV T2311T 0.003 0 0 0 3 0 0 0 0 0 0 0 2.294 303702 chr13 20717030 20717030 C T rs149933083 GJA3 Nonsynonymous SNV R133Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.1 303703 chr3 121256011 121256011 G A rs367554352 POLQ Stop gain R226X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 303704 chr14 78183871 78183871 G A rs756693515 SLIRP Synonymous SNV P97P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.291 303705 chr3 121828218 121828220 GAA - rs111971046 CD86 K162del 0 0 0.003 0 0 0 0 1 0 0 0 0 303706 chr5 40692042 40692042 G A PTGER4 Synonymous SNV K343K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.92 303707 chr5 40692204 40692204 A G PTGER4 Synonymous SNV P397P 0.002 0 0 0 2 0 0 0 0 0 0 0 3.176 303708 chrX 106069445 106069445 G A rs370947757 TBC1D8B Nonsynonymous SNV S338N 0 0 0.007 0 0 0 0 2 0 0 1 0 8.012 303709 chr3 124896709 124896709 G A rs536354550 SLC12A8 Nonsynonymous SNV A167V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 303710 chr14 92537354 92537354 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 A22_G23insAAAAAAAAAAAAAAAAAAAAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 303711 chrX 128888517 128888517 G A rs199809120 XPNPEP2 Nonsynonymous SNV D393N 0 0 0.007 0 0 0 0 2 0 0 1 0 0.441 303712 chr13 39433450 39433450 C T rs761762671 FREM2 Synonymous SNV Y2414Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.58 303713 chrX 131762541 131762541 C A rs201186035 HS6ST2 Nonsynonymous SNV A510S 0 0 0.007 0 0 0 0 2 0 0 1 0 19.8 303714 chrX 133675414 133675414 C A MIR542 0 0 0.007 0 0 0 0 2 0 0 1 0 18.66 303715 chr5 479905 479905 A T SLC9A3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.179 303716 chr14 24531725 24531725 C T rs574633788 CARMIL3 Synonymous SNV S839S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.82 303717 chrX 149963947 149963947 T C rs142904372 CD99L2 Nonsynonymous SNV H48R 0.001 0 0.007 0 1 0 0 2 0 0 1 0 0.011 303718 chr3 133099770 133099770 G A rs117865886 TMEM108 Synonymous SNV V405V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 303719 chr3 135913870 135913870 G C MSL2 Nonsynonymous SNV T29S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 303720 chr3 135969361 135969361 G A PCCB Synonymous SNV L48L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 303721 chr5 74518092 74518092 G A rs375356487 ANKRD31 Synonymous SNV S90S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.712 303722 chr3 137849861 137849861 C T rs373972458 A4GNT Nonsynonymous SNV E80K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 303723 chr3 138665525 138665525 C G rs754146874 FOXL2 Nonsynonymous SNV A14P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 303724 chr3 141535801 141535801 C T rs200073302 GRK7 Nonsynonymous SNV T524M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 303725 chr16 81129758 81129758 G A rs1014861890 GCSH Synonymous SNV R42R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.46 303726 chr16 81211557 81211557 G C rs149418728 PKD1L2 Synonymous SNV T79T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 303727 chr3 148559671 148559671 A T CPB1 Nonsynonymous SNV E179V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 303728 chr3 15219163 15219163 G A rs554760002 COL6A4P1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.419 303729 chr3 15477913 15477913 C T rs549005284 EAF1 Synonymous SNV D197D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 303730 chr3 156272862 156272862 C A rs370480065 SSR3 Nonsynonymous SNV S6I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 303731 chr3 157131765 157131765 T A rs1378795 VEPH1 Nonsynonymous SNV S271C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.701 303732 chrY 21751449 21751449 C T rs34289137 TXLNGY 0 0 0.014 0 0 0 0 4 0 0 2 0 9.218 303733 chr3 158970596 158970596 T C rs535193958 IQCJ, IQCJ-SCHIP1 Nonsynonymous SNV I52T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 303734 chr3 163889342 163889342 T C rs547276796 MIR1263 0 0 0.003 0 0 0 0 1 0 0 0 0 1.314 303735 chr10 104248008 104248008 G A rs117277603 ACTR1A Nonsynonymous SNV R72C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 303736 chr14 59827546 59827546 G C DAAM1 Nonsynonymous SNV S887T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 303737 chr10 105344555 105344555 C A NEURL1 Nonsynonymous SNV H304Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 303738 chr5 61699552 61699552 C G DIMT1 Nonsynonymous SNV Q16H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 303739 chr10 105903218 105903218 A G rs748681159 CFAP43 Nonsynonymous SNV M1375T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303740 chr5 64103468 64103468 C T CWC27 Synonymous SNV L327L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.108 303741 chr3 183041098 183041098 G A rs185884965 MCF2L2 Synonymous SNV I176I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 303742 chr5 64748677 64748677 T C rs747043426 ADAMTS6 Nonsynonymous SNV N234D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.201 303743 chr5 66445378 66445378 T C MAST4 Nonsynonymous SNV S892P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 303744 chr5 66445401 66445401 C A MAST4 Synonymous SNV S899S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 303745 chr14 36074828 36074828 T G rs148216106 RALGAPA1 Nonsynonymous SNV Q2292H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 303746 chr3 183905709 183905709 A C ABCF3 Synonymous SNV S163S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.174 303747 chr10 115370313 115370313 G A rs534517669 NRAP Nonsynonymous SNV R1134W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 303748 chr10 115481418 115481418 G A rs115183028 CASP7 Nonsynonymous SNV V61I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 303749 chr5 126784807 126784807 T G rs768809701 MEGF10 Nonsynonymous SNV L958R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 303750 chr3 193081117 193081117 G A rs527798561 ATP13A5 Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 303751 chr14 21873372 21873372 G A CHD8 Synonymous SNV I1101I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 303752 chr14 75302006 75302006 T C rs755397399 YLPM1 Synonymous SNV D2111D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.941 303753 chr5 137682484 137682484 C G FAM53C Nonsynonymous SNV L339V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 303754 chr5 79030812 79030812 C T rs201456508 CMYA5 Nonsynonymous SNV P2075L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 303755 chr3 195925177 195925177 C T rs74579410 ZDHHC19 Nonsynonymous SNV G307R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.605 303756 chr3 195925183 195925183 T A rs117210533 ZDHHC19 Nonsynonymous SNV T305S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303757 chr3 195968820 195968820 T C rs201929666 PCYT1A Nonsynonymous SNV N236S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.55 303758 chr3 196434643 196434643 C G rs139813132 CEP19 Nonsynonymous SNV E91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.37 303759 chr3 196434695 196434695 T C rs142077651 CEP19 Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.982 303760 chr3 196743994 196743994 G A rs2276790 MELTF Nonsynonymous SNV R294W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303761 chr3 20215873 20215873 G A rs765862518 SGO1 Nonsynonymous SNV P384S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 303762 chr5 140871403 140871403 G A rs376494807 PCDHGC5 Nonsynonymous SNV G866R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 303763 chr4 119978658 119978658 A T rs145468048 SYNPO2 Nonsynonymous SNV Q120H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.092 303764 chr3 33644605 33644605 C T rs566311938 CLASP2 Nonsynonymous SNV S355N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 303765 chr15 65477439 65477439 G A CLPX Nonsynonymous SNV T18I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.885 303766 chr3 38316166 38316166 T C rs528707145 SLC22A13 Nonsynonymous SNV V185A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.212 303767 chr5 102364697 102364698 AG - rs764260533 PAM E865Gfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 303768 chr5 110440034 110440034 G T rs142687756 WDR36 Nonsynonymous SNV A353S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 303769 chr3 38739975 38739975 C T rs781118074 SCN10A Nonsynonymous SNV R1481Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303770 chr3 39225512 39225512 G A rs555974071 XIRP1 Nonsynonymous SNV P492S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 303771 chr5 149676984 149676984 C T rs756540774 ARSI Synonymous SNV P501P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.32 303772 chr4 140187879 140187879 G A MGARP Synonymous SNV N199N 0 0 0 1 0 0 0.003 0 0 0 0 0 5.306 303773 chr4 140417635 140417635 A T SETD7 Nonsynonymous SNV F321I 0 0 0 1 0 0 0.003 0 0 0 0 0 5.639 303774 chr5 149782796 149782796 G A rs61729998 CD74 Synonymous SNV N235N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.23 303775 chr14 50697960 50697962 CTC - rs769421216 SOS2 E14del 0 0 0 1 0 0 0.003 0 0 0 0 0 303776 chr5 149925005 149925005 C G rs141935011 NDST1 Nonsynonymous SNV T701S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 22.8 303777 chr5 150080506 150080506 G A rs779269769 RBM22 Synonymous SNV N14N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.28 303778 chr3 43073880 43073880 C G rs567390802 GASK1A Nonsynonymous SNV P42R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 303779 chr3 43607150 43607150 G A rs200570277 ANO10 Nonsynonymous SNV R319C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 303780 chr10 27459043 27459043 T C rs779836732 MASTL Synonymous SNV C385C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 303781 chr4 154501991 154501991 - TAC rs759694638 TMEM131L T226_S227insT 0.001 0 0 0 1 0 0 0 0 0 0 0 303782 chr4 154507438 154507438 C G TMEM131L Nonsynonymous SNV D463E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 303783 chr5 129520880 129520880 C T CHSY3 Nonsynonymous SNV P682L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 303784 chr14 54418865 54418865 A G rs74486266 BMP4 Synonymous SNV L26L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.365 303785 chr3 4558232 4558232 G A rs200534989 ITPR1 Synonymous SNV A19A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.07 303786 chr10 31815984 31815984 G T ZEB1 Nonsynonymous SNV C982F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 303787 chr10 33502469 33502469 T C rs182437025 NRP1 Nonsynonymous SNV I487V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 303788 chr4 159790491 159790491 C T rs758749606 FNIP2 Synonymous SNV D547D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 12.09 303789 chr3 47040920 47040920 C T rs531780087 NBEAL2 Nonsynonymous SNV S1186F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 303790 chr5 139743741 139743741 G C SLC4A9 Nonsynonymous SNV V442L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 303791 chr3 47162505 47162505 A G rs577048438 SETD2 Synonymous SNV S1163S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.26 303792 chr3 47447489 47447489 G A rs377445101 PTPN23 Nonsynonymous SNV V41I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 303793 chr3 47459891 47459891 C T rs528093394 SCAP Nonsynonymous SNV G496R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 303794 chr3 48697105 48697105 C T rs376152981 CELSR3 Nonsynonymous SNV R988Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 303795 chr3 49770356 49770356 C A rs199967442 IP6K1 Nonsynonymous SNV V162F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303796 chr3 49933813 49933813 G C rs375573917 MST1R Nonsynonymous SNV Q716E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.386 303797 chr3 50391144 50391144 C A CYB561D2 Nonsynonymous SNV A213D 0 0 0.003 0 0 0 0 1 0 0 0 0 29 303798 chr3 51457595 51457595 G A rs371447321 DCAF1 Synonymous SNV P808P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.94 303799 chr10 50121551 50121551 G A LRRC18 Nonsynonymous SNV A217V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 303800 chr3 52404645 52404645 C T rs372595174 DNAH1 Synonymous SNV N2137N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.772 303801 chr3 52804751 52804751 G A rs369718512 NEK4 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 303802 chr5 178413297 178413297 C T rs62638622 GRM6 Nonsynonymous SNV R653H 0.002 0 0 0 2 0 0 0 0 0 0 0 not provided 26.3 303803 chr3 52945116 52945116 G A rs140490832 SFMBT1 Synonymous SNV T603T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 303804 chr10 6540431 6540431 C T rs141631625 PRKCQ Nonsynonymous SNV V32I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 303805 chr3 73111747 73111747 C T rs200718150 EBLN2 Nonsynonymous SNV P172L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 303806 chr10 71154712 71154712 G A rs141211718 HK1 Synonymous SNV E710E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.2 303807 chr10 71166947 71166947 C T rs142607892 TACR2 Synonymous SNV E277E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 303808 chr10 71175941 71175941 C T rs57500981 TACR2 Nonsynonymous SNV A47T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 303809 chr6 7368987 7368989 CTT - rs776023609 CAGE1 K510del 0.001 0 0 0 1 0 0 0 0 0 0 0 303810 chr15 50209182 50209182 T A rs114920507 ATP8B4 Nonsynonymous SNV D697V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 303811 chr3 9726300 9726300 A G MTMR14 Synonymous SNV S332S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.712 303812 chr5 154173521 154173521 C T LARP1 Nonsynonymous SNV R139C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303813 chr3 99536521 99536521 C A rs566288578 HP09053 0 0 0.003 0 0 0 0 1 0 0 0 0 6.748 303814 chr10 75406844 75406844 G A rs752727659 SYNPO2L Stop gain Q632X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 303815 chr4 100131618 100131618 A C rs28720152 ADH6 Nonsynonymous SNV C102G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 303816 chr10 75871744 75871744 C T rs747647927 VCL Synonymous SNV V941V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.22 303817 chr4 100341741 100341741 T A ADH7 Synonymous SNV T270T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.218 303818 chr4 100445678 100445678 A G C4orf17 Nonsynonymous SNV E113G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 303819 chr4 1016247 1016247 C T rs139057147 FGFRL1 Synonymous SNV Y112Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.33 303820 chr4 103806439 103806439 G A rs780388471 CISD2, SLC9B1 Nonsynonymous SNV R57H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 303821 chr16 1451643 1451643 G C UNKL Nonsynonymous SNV P175R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 303822 chr10 88702965 88702965 G A rs146533024 MMRN2 Nonsynonymous SNV R526W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 303823 chr4 113565887 113565889 AAG - rs570445594 LARP7 E22del 0 0 0.003 0 0 0 0 1 0 0 0 0 303824 chr6 26459952 26459952 C G BTN2A1 Nonsynonymous SNV A48G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 303825 chr4 114279758 114279758 T C ANK2 Synonymous SNV D3328D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 303826 chr5 178770927 178770927 C T ADAMTS2 Synonymous SNV R125R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 303827 chr16 2030434 2030434 C T rs142083369 NOXO1 Nonsynonymous SNV S116N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 303828 chr16 2051639 2051639 G A rs143558539 ZNF598 Nonsynonymous SNV R320W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 303829 chr6 36075351 36075351 G A rs142415666 MAPK14 Nonsynonymous SNV D321N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 303830 chr11 1016800 1016800 G C MUC6 Nonsynonymous SNV P2001A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 303831 chr11 1016801 1016801 G T MUC6 Nonsynonymous SNV H2000Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.399 303832 chr4 13545953 13545953 G C rs577849807 NKX3-2 Nonsynonymous SNV A29G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.26 303833 chr4 146576459 146576459 A T rs554604284 MMAA Nonsynonymous SNV E377V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.35 303834 chr16 2580786 2580786 G A CEMP1 Nonsynonymous SNV P97S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.322 303835 chr4 153896584 153896584 C T rs544796631 FHDC1 Nonsynonymous SNV P714L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.162 303836 chr4 155298458 155298458 C T rs376441129 DCHS2 Nonsynonymous SNV D731N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 303837 chr6 43415430 43415430 C T rs375933427 ABCC10 Synonymous SNV T1210T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 303838 chr16 28917491 28917491 C T rs772184488 RABEP2 Synonymous SNV T424T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 303839 chr4 160274740 160274740 C T rs201405934 RAPGEF2 Nonsynonymous SNV A1237V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 303840 chr6 25581528 25581528 C G rs367782367 CARMIL1 Nonsynonymous SNV P956R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 303841 chr4 170043342 170043342 C T rs372228006 SH3RF1 Nonsynonymous SNV A419T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 303842 chr6 51890304 51890304 C G rs138242579 PKHD1 Nonsynonymous SNV S1435T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.8 303843 chr4 174254687 174254687 G A rs563490883 HMGB2 Synonymous SNV F38F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 303844 chr6 53660101 53660101 G T rs61737021 LRRC1 Nonsynonymous SNV S16I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.79 303845 chr6 53762118 53762118 T A rs148410027 LRRC1 Nonsynonymous SNV D201E 0.002 0 0 0 2 0 0 0 0 0 0 0 10.5 303846 chr4 17832710 17832710 G T NCAPG Nonsynonymous SNV A619S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 303847 chr11 111724402 111724402 A G ALG9 Synonymous SNV H82H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.219 303848 chr4 186111751 186111751 C T rs201466886 CFAP97 Synonymous SNV S200S 0 0 0.003 2 0 0 0.005 1 0 0 0 0 11.22 303849 chr4 186283182 186283182 C T rs146295595 SNX25 Nonsynonymous SNV P755L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 303850 chr11 111904224 111904224 G T rs746422062 DLAT Nonsynonymous SNV A253S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 303851 chr6 56483362 56483362 G A rs762637278 DST Nonsynonymous SNV H1824Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.171 303852 chr4 186598593 186598593 G C rs371830607 SORBS2 Nonsynonymous SNV S17C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 303853 chr4 187530349 187530349 G A rs373756658 FAT1 Synonymous SNV L3398L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.709 303854 chr4 187538888 187538888 T C rs539876742 FAT1 Nonsynonymous SNV N2951S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 303855 chr4 187628276 187628276 T G rs555992573 FAT1 Nonsynonymous SNV R902S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.26 303856 chr16 48220891 48220891 T C rs748923651 ABCC11 Nonsynonymous SNV Y1015C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 303857 chr15 56142800 56142800 G T rs144358167 NEDD4 Synonymous SNV V776V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.283 303858 chr11 117789272 117789272 G A rs371192091 TMPRSS13 Synonymous SNV S101S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 303859 chr4 25265396 25265396 G A PI4K2B Nonsynonymous SNV E335K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 303860 chr4 2597978 2597978 C G FAM193A Nonsynonymous SNV H84Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 303861 chr4 2956224 2956224 C A rs759956750 NOP14 Nonsynonymous SNV G180V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 303862 chr11 118307400 118307400 C G KMT2A Nonsynonymous SNV P58R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 303863 chr4 2965010 2965010 C T rs766595193 NOP14 Nonsynonymous SNV A13T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.904 303864 chr17 61557173 61557173 C T ACE Synonymous SNV L185L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 303865 chr4 3494857 3494857 G A rs560463670 DOK7 Nonsynonymous SNV E72K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.7 303866 chr11 11971458 11971458 C T USP47 Nonsynonymous SNV A1056V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 303867 chr16 1270011 1270011 A C rs778980873 CACNA1H Nonsynonymous SNV K2021Q 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 303868 chr4 38698740 38698740 A G rs569719212 KLF3 Synonymous SNV T298T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.461 303869 chr6 90604448 90604448 T C GJA10 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 303870 chr16 57608753 57608753 A G rs138832095 ADGRG5 Nonsynonymous SNV T373A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 303871 chr16 1397587 1397587 C T rs757844857 BAIAP3 Synonymous SNV R919R 0.003 0 0 0 3 0 0 0 0 0 0 0 11.27 303872 chr5 131714126 131714126 C T rs756089971 SLC22A5 Synonymous SNV F150F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.33 303873 chr5 134039572 134039572 A G rs1020712786 SEC24A Nonsynonymous SNV D797G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 303874 chr4 44449939 44449939 - CGCCGC rs750799162 KCTD8 G200_A201insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 303875 chr11 124972043 124972043 G A rs752198120 TMEM218 Nonsynonymous SNV A32V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 303876 chr6 109319905 109319905 T C rs139775035 SESN1 Synonymous SNV A202A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.76 303877 chr4 48529638 48529638 G A rs186902554 FRYL Synonymous SNV V2391V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.486 303878 chr6 44219778 44219778 G A rs756172334 HSP90AB1 Nonsynonymous SNV R502Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 303879 chr16 16170238 16170238 C T rs375573621 ABCC1 Synonymous SNV S656S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.05 303880 chr4 54348017 54348017 C G rs576652221 LNX1 Nonsynonymous SNV S356T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 303881 chr6 110300788 110300788 G A GPR6 Nonsynonymous SNV S158N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 303882 chr4 5627524 5627524 C T rs201835379 EVC2 Synonymous SNV K586K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.219 303883 chr16 70285270 70285270 G A EXOSC6 Synonymous SNV D178D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.724 303884 chr11 1263729 1263729 C T rs374068418 MUC5B Synonymous SNV N1873N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 303885 chr4 5795413 5795413 G A rs111293777 EVC Nonsynonymous SNV V619I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.2 303886 chr4 5843123 5843123 G C rs367673526 CRMP1 Synonymous SNV T355T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.302 303887 chr16 721964 721964 C T rs147693926 RHOT2 Synonymous SNV A302A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 303888 chr4 6066625 6066625 G A rs574312710 JAKMIP1 Synonymous SNV P306P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 303889 chr4 6234951 6234951 C T rs116409025 LINC02495 0 0 0.003 0 0 0 0 1 0 0 0 0 7.364 303890 chr6 121615800 121615800 T C rs751849141 TBC1D32 Nonsynonymous SNV T383A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 303891 chr4 68378195 68378197 CTT - rs577423855 CENPC E512del 0 0 0.003 0 0 0 0 1 0 0 0 0 303892 chr16 21712297 21712297 A G rs770619636 OTOA Nonsynonymous SNV E231G 0.002 0 0 0 2 0 0 0 0 0 0 0 23 303893 chr6 56350196 56350196 A G DST Synonymous SNV L4418L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.203 303894 chr6 134496777 134496777 A G SGK1 Nonsynonymous SNV L8P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.99 303895 chr4 71659604 71659604 G A RUFY3 Synonymous SNV E480E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.689 303896 chr11 18727565 18727565 G A rs768533978 IGSF22 Nonsynonymous SNV L1237F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 303897 chr4 73149106 73149106 C T rs148581726 ADAMTS3 Nonsynonymous SNV S1122N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.238 303898 chr4 76794339 76794339 A G PPEF2 Nonsynonymous SNV F483L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 303899 chr6 147062346 147062346 C T ADGB Nonsynonymous SNV T1039I 0.002 0 0 0 2 0 0 0 0 0 0 0 31 303900 chr5 145719368 145719368 G A rs113137300 POU4F3 Synonymous SNV T126T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.477 303901 chr11 22881000 22881000 G A CCDC179 Stop gain Q30X 0.002 0 0.003 0 2 0 0 1 0 0 0 0 35 303902 chr6 84317432 84317432 C T rs1017559267 SNAP91 Synonymous SNV A320A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 303903 chr16 87744922 87744922 C T KLHDC4 Synonymous SNV E264E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 303904 chr16 30096021 30096021 C T rs139385827 PPP4C Synonymous SNV A179A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.95 303905 chr16 1584541 1584541 - GAGGCACCGTCA rs762049895 TMEM204 V92_K93insRGTV 0.001 0 0 0 1 0 0 0 0 0 0 0 303906 chr4 853410 853410 G C rs374905719 GAK Synonymous SNV L1010L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.707 303907 chr4 85600105 85600105 T G rs760479868 WDFY3 Nonsynonymous SNV I3372L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.855 303908 chr11 299383 299385 GTG - rs768759395 IFITM5 H36del 0 0 0.003 0 0 0 0 1 0 0 0 0 303909 chr6 158957624 158957624 C A TMEM181 Nonsynonymous SNV T49N 0.002 0 0 0 2 0 0 0 0 0 0 0 13.44 303910 chr4 88986546 88986546 C T rs200707583 PKD2 Synonymous SNV V713V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.91 303911 chr11 34156108 34156108 T C NAT10 Nonsynonymous SNV I557T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 303912 chr4 95972859 95972859 G A rs559432654 BMPR1B Stop gain W3X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 303913 chr11 3733840 3733840 G A rs149360555 NUP98 Nonsynonymous SNV T852M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.38 303914 chr5 177547335 177547335 C T rs201687291 N4BP3 Nonsynonymous SNV R163W 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 303915 chr16 1254216 1254216 G A rs367610523 CACNA1H Nonsynonymous SNV G737S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.437 303916 chr17 10608574 10608574 C A ADPRM Nonsynonymous SNV H111N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.8 303917 chr11 47193023 47193023 T C rs748272296 ARFGAP2 Nonsynonymous SNV K271E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 303918 chr16 29818422 29818430 GCTGCCGCC - rs746822421 MAZ A106_A108del 0.001 0 0 0 1 0 0 0 0 0 0 0 303919 chr5 118324113 118324113 G C rs187201738 DTWD2 Nonsynonymous SNV R32G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.078 303920 chr5 118485059 118485059 A G rs570190235 DMXL1 Synonymous SNV E1179E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 303921 chr5 118490402 118490402 G A rs77966622 MIR5706 0 0 0.007 0 0 0 0 2 0 0 0 0 8.341 303922 chr5 118513697 118513697 C G rs146123394 DMXL1 Nonsynonymous SNV T2298S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.256 303923 chr6 170592534 170592534 C T rs374942727 DLL1 Synonymous SNV Q611Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.937 303924 chr16 30080687 30080687 C T rs372394541 ALDOA Nonsynonymous SNV R201C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 303925 chr16 13329050 13329050 C G SHISA9 Nonsynonymous SNV N353K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.72 303926 chr5 179193720 179193720 G A rs142522300 MAML1 Nonsynonymous SNV R570Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.8 303927 chr6 128134105 128134105 G T rs914602220 THEMIS Nonsynonymous SNV P561T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 303928 chr5 122181357 122181357 A G SNX24 Nonsynonymous SNV Y10C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 303929 chr5 133914553 133914553 A G rs758505484 JADE2 Nonsynonymous SNV Q641R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.316 303930 chr5 13721140 13721140 G T DNAH5 Nonsynonymous SNV A4083D 0 0 0.003 0 0 0 0 1 0 0 0 0 26 303931 chr5 137284752 137284752 G C rs543282248 FAM13B Synonymous SNV P662P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 303932 chr5 13919325 13919325 A C rs762677340 DNAH5 Nonsynonymous SNV V312G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 3.372 303933 chr5 140167384 140167384 G A rs552435448 PCDHA1 Synonymous SNV A503A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 303934 chr16 20927015 20927015 G A rs138841536 LYRM1 Synonymous SNV T46T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.23 303935 chr16 20944676 20944676 G A rs374136141 DNAH3 Synonymous SNV L4005L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 303936 chr5 140180928 140180928 C T rs574825520 PCDHA3 Nonsynonymous SNV A49V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 303937 chr5 140183122 140183122 A G rs538379527 PCDHA3 Synonymous SNV P780P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.906 303938 chr6 157522324 157522324 C T rs150010654 ARID1B Synonymous SNV I822I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.07 303939 chr17 2598379 2598379 C A CLUH Nonsynonymous SNV G875V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 303940 chr5 141236953 141236953 A G rs368242386 PCDH1 Synonymous SNV S1061S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.532 303941 chr5 14487614 14487616 GGC - rs749785358 TRIO G2298del 0 0 0.003 0 0 0 0 1 0 0 0 0 303942 chr11 55606711 55606711 G A rs148923372 OR5D16 Nonsynonymous SNV A162T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 303943 chr6 160113626 160113626 A G rs752509095 SOD2 Nonsynonymous SNV I98T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.316 303944 chr6 161969984 161969984 C A rs894633561 PRKN Nonsynonymous SNV G180C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 303945 chr16 74949866 74949866 G A WDR59 Nonsynonymous SNV L376F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.063 303946 chr5 150505970 150505970 C T rs373658825 ANXA6 Nonsynonymous SNV R318Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 303947 chr6 170592118 170592118 G A rs150208957 DLL1 Synonymous SNV Y708Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.812 303948 chr5 151304069 151304069 G T rs572343839 GLRA1 Synonymous SNV T14T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.499 303949 chr7 44579062 44579062 C G rs145167295 NPC1L1 Nonsynonymous SNV D312H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.064 303950 chr16 3443804 3443804 G C ZSCAN32 Nonsynonymous SNV S126C 0 0 0 1 0 0 0.003 0 0 0 0 0 12 303951 chr5 16670695 16670695 G A rs535133241 MYO10 Synonymous SNV A1941A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 303952 chr5 16694611 16694611 C T rs138827481 MYO10 Synonymous SNV G1223G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.67 303953 chr5 169308405 169308405 C G rs547938508 INSYN2B Nonsynonymous SNV S463T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 303954 chr7 50514279 50514279 A G rs149596053 FIGNL1 Nonsynonymous SNV I236T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 303955 chr17 38345160 38345160 A C rs773192284 RAPGEFL1 Synonymous SNV P141P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.17 303956 chr5 169589 169589 A G rs61750331 PLEKHG4B Nonsynonymous SNV H1204R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 303957 chr7 5402453 5402453 G A rs201311952 TNRC18 Nonsynonymous SNV A1408V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.296 303958 chr5 176305059 176305059 G A rs201643974 UNC5A Synonymous SNV P600P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.438 303959 chr16 56717096 56717096 C T rs146637306 MT1X Synonymous SNV A16A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.92 303960 chr16 56868050 56868050 G A rs148103884 NUP93 Synonymous SNV E393E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.431 303961 chr16 56871567 56871567 C T rs140837235 NUP93 Synonymous SNV V526V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.89 303962 chr16 56947275 56947275 C T rs2289113 SLC12A3 Synonymous SNV I1017I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.01 303963 chr16 8736327 8736327 C T rs375016530 METTL22 Synonymous SNV Y305Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 303964 chr5 2755209 2755209 C A rs765213438 C5orf38 Synonymous SNV R134R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.483 303965 chr7 26232902 26232904 ACC - rs776731510 HNRNPA2B1 G311del 0.001 0 0 0 1 0 0 0 0 0 0 0 303966 chr16 597625 597625 G T rs912104078 CAPN15 Nonsynonymous SNV A263S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 303967 chr17 39871696 39871696 G C rs34309618 GAST Nonsynonymous SNV R3P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.91 303968 chr17 39890813 39890813 C T rs34106519 HAP1 Nonsynonymous SNV C25Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22.8 303969 chr7 29976255 29976255 G A SCRN1 Synonymous SNV T206T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 303970 chr16 66944383 66944383 A G rs376131277 CDH16 Synonymous SNV S552S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.448 303971 chr17 40343050 40343050 G - rs760827827 GHDC A357Pfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 303972 chr11 61914219 61914219 G T rs372290264 INCENP Synonymous SNV R679R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 303973 chr11 621366 621366 C A rs145742172 CDHR5 Nonsynonymous SNV M199I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 303974 chr17 40970308 40970308 C T rs141389235 BECN1 Nonsynonymous SNV R129H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 303975 chr5 38919338 38919338 C A OSMR Nonsynonymous SNV P539T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.96 303976 chr7 97852317 97852317 C T rs79438349 TECPR1 Synonymous SNV S971S 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 11.35 303977 chr7 97858424 97858424 G A rs112013398 TECPR1 Synonymous SNV G779G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 13.42 303978 chr7 97860299 97860299 G A rs115819213 TECPR1 Synonymous SNV H752H 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 0.078 303979 chr7 97863152 97863152 G A rs74440117 TECPR1 Nonsynonymous SNV S418L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 10.26 303980 chr17 41164220 41164220 C G rs12948870 IFI35 Nonsynonymous SNV Q16E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.202 303981 chr17 41244130 41244130 T C rs2227945 BRCA1 Nonsynonymous SNV S1093G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.188 303982 chr6 75893133 75893133 G A COL12A1 Synonymous SNV N508N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.057 303983 chr16 70551558 70551558 T C rs754530120 COG4 Nonsynonymous SNV S110G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.43 303984 chr17 41346418 41346418 C A NBR1 Nonsynonymous SNV Q505K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 303985 chr5 43280626 43280626 A G NIM1K Nonsynonymous SNV E369G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 303986 chr7 100482649 100482649 A G rs149587305 SRRT Nonsynonymous SNV K383E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.06 303987 chr11 63066471 63066471 C A rs371483523 SLC22A10 Nonsynonymous SNV R304S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 303988 chr11 63066503 63066503 C A rs754661199 SLC22A10 Synonymous SNV T314T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 303989 chr7 44266184 44266184 C G rs35452727 CAMK2B Nonsynonymous SNV E510Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 303990 chr5 5235201 5235201 G A rs202081208 ADAMTS16 Nonsynonymous SNV R642Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 303991 chr11 64056664 64056664 C T rs778003446 GPR137 Nonsynonymous SNV T396M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 303992 chr11 6413312 6413312 C T rs1040248510 SMPD1 Nonsynonymous SNV P19L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 303993 chr16 75258625 75258625 T A CTRB1 Nonsynonymous SNV V218D 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 303994 chr6 90604810 90604810 A C rs375047219 GJA10 Nonsynonymous SNV K208T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 303995 chr17 17942809 17942809 A G rs553766703 GID4 Nonsynonymous SNV T11A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.58 303996 chr17 18041529 18041529 G A rs141473928 MYO15A Nonsynonymous SNV R1659Q 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Uncertain significance 25.8 303997 chr5 55407523 55407523 C T rs76363118 ANKRD55 Nonsynonymous SNV C351Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.8 303998 chr5 61778962 61778962 T C rs759294534 IPO11 Nonsynonymous SNV F328S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 303999 chr5 61789885 61789885 C T rs201556626 IPO11 Synonymous SNV F548F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 304000 chr11 64981532 64981532 C A SLC22A20P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.786 304001 chr5 64859184 64859184 G A rs549525192 PPWD1 Nonsynonymous SNV R16H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 304002 chr5 65054546 65054546 T C NLN Nonsynonymous SNV I65T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 304003 chr5 68616210 68616210 T C rs377424063 CCDC125 Nonsynonymous SNV D53G 0 0 0.003 0 0 0 0 1 0 0 0 0 22 304004 chr17 48245877 48245877 C T rs1801190 SGCA Synonymous SNV T176T 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 14.98 304005 chr11 65350237 65350237 G A rs775705867 EHBP1L1 Nonsynonymous SNV M698I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.058 304006 chr5 71494457 71494457 A G MAP1B Nonsynonymous SNV M1633V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 304007 chr5 72168528 72168528 A G TNPO1 Nonsynonymous SNV H170R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 304008 chr17 48597137 48597137 G A rs771543139 MYCBPAP Nonsynonymous SNV R317Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.063 304009 chr11 6592537 6592537 G A rs369840664 DNHD1 Nonsynonymous SNV E4599K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 304010 chr7 75192296 75192296 G A rs202174235 HIP1 Synonymous SNV P321P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.227 304011 chr17 53844708 53844708 T C rs200541759 PCTP Nonsynonymous SNV Y52H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 304012 chr11 67176584 67176584 G A rs200282604 TBC1D10C Nonsynonymous SNV G223E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 304013 chr5 76358951 76358951 T A rs139970657 AGGF1 Synonymous SNV L673L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.186 304014 chr7 87022121 87022121 A G CROT Nonsynonymous SNV D527G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 304015 chr7 87022368 87022368 A G rs775606556 CROT Nonsynonymous SNV H568R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 304016 chr7 106300657 106300657 C T CCDC71L Nonsynonymous SNV R229H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304017 chr17 26823557 26823557 G A rs144798403 SLC13A2 Synonymous SNV P569P 0.003 0 0 0 3 0 0 0 0 0 0 0 10.2 304018 chr7 106301080 106301080 A T CCDC71L Nonsynonymous SNV F88Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 304019 chr17 26851789 26851789 A G rs140801727 FOXN1 Nonsynonymous SNV H131R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.883 304020 chr7 87196129 87196129 C T rs61122623 ABCB1 Nonsynonymous SNV V168I 0.001 0 0 0 1 0 0 0 0 0 0 0 drug response 17.39 304021 chr11 68747818 68747818 C T rs746490723 MRGPRD Nonsynonymous SNV R213Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 304022 chr5 80503134 80503134 C T rs748372944 RASGRF2 Synonymous SNV L1013L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 304023 chr5 80555050 80555050 G A rs576450406 CKMT2 Nonsynonymous SNV V331I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 304024 chr11 69934077 69934077 G A rs767729196 ANO1 Nonsynonymous SNV A110T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 304025 chr11 69934078 69934078 C A rs750933607 ANO1 Nonsynonymous SNV A110E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 304026 chr5 90078949 90078949 G A rs578245415 ADGRV1 Nonsynonymous SNV D4414N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 304027 chr5 94030690 94030690 G A rs200414681 SLF1 Synonymous SNV Q950Q 0 0 0.007 0 0 0 0 2 0 0 1 0 8.381 304028 chr7 98633347 98633347 G A rs376457455 LOC101927550 0.001 0 0 0 1 0 0 0 0 0 0 0 8.253 304029 chr5 96073628 96073628 A G rs542940545 CAST Nonsynonymous SNV T104A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 304030 chr11 74168515 74168515 G C rs755300564 KCNE3 Nonsynonymous SNV R32G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 304031 chr11 747549 747549 C G rs144787855 TALDO1 Nonsynonymous SNV T23S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.6 304032 chr17 65124957 65124957 C T rs746384667 HELZ Nonsynonymous SNV R1067Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 304033 chr6 106960811 106960811 C A rs768594415 CRYBG1 Nonsynonymous SNV L199M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 304034 chr6 109321872 109321872 G A rs745757510 SESN1 Nonsynonymous SNV A125V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 304035 chr6 111688600 111688600 G T rs369589167 REV3L Nonsynonymous SNV P2131T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 304036 chr6 116442018 116442018 G A rs146980198 COL10A1 Nonsynonymous SNV P421S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 304037 chr6 116938278 116938278 G A rs532331878 RSPH4A Synonymous SNV R164R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.321 304038 chr6 117121875 117121875 A T rs756527554 GPRC6A Nonsynonymous SNV Y299N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 304039 chr7 142568072 142568072 C T EPHB6 Nonsynonymous SNV R613W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304040 chr6 128134205 128134205 T C rs781087218 THEMIS Synonymous SNV L527L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 304041 chr17 7330288 7330288 C T SPEM2 Synonymous SNV A326A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.584 304042 chr11 92715124 92715124 C T rs376871685 MTNR1B Synonymous SNV S245S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 304043 chr17 73570721 73570721 C T rs199860735 LLGL2 Nonsynonymous SNV P995L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 304044 chr7 148895715 148895715 C G rs765066956 ZNF282 Synonymous SNV A152A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.371 304045 chr17 7407062 7407062 C T POLR2A Synonymous SNV A1064A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 304046 chr11 94602385 94602385 C T rs201871905 AMOTL1 Synonymous SNV H787H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.542 304047 chr6 144263077 144263077 G C PLAGL1 Synonymous SNV G292G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 304048 chr6 146755566 146755566 G A rs362826 GRM1 Synonymous SNV Q1073Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.071 304049 chr7 150707831 150707831 G C NOS3 Synonymous SNV S944S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 304050 chr6 147680293 147680293 G A STXBP5 Synonymous SNV A757A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 304051 chr12 101720994 101720994 G A rs758322291 UTP20 Synonymous SNV L1059L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 304052 chr12 103699947 103699947 C A rs78107859 C12orf42 Nonsynonymous SNV A146S 0 0 0.007 0 0 0 0 2 0 0 0 0 8.086 304053 chr17 27233259 27233259 T C PHF12 Nonsynonymous SNV E986G 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 304054 chr7 111979906 111979906 C T rs150018093 ZNF277 Synonymous SNV H325H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 304055 chr17 29631648 29631648 C G rs150905221 EVI2B Nonsynonymous SNV G327A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.11 304056 chr7 123197458 123197458 C G rs374799928 NDUFA5 Nonsynonymous SNV E22D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 304057 chr6 158576372 158576374 TTA - rs754630732 SERAC1 I34del 0 0 0.003 0 0 0 0 1 0 0 0 0 304058 chr7 127958040 127958040 G A rs117179081 RBM28 Synonymous SNV N420N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.89 304059 chr8 2046775 2046775 A G rs747840017 MYOM2 Nonsynonymous SNV E801G 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 304060 chr6 159459154 159459154 T C rs577701787 TAGAP Nonsynonymous SNV D234G 0 0 0.003 0 0 0 0 1 0 0 0 0 25 304061 chr6 160514482 160514482 G A rs367676407 LOC729603 0 0 0.003 0 0 0 0 1 0 0 0 0 1.918 304062 chr6 160905127 160905127 C T rs928368949 LPAL2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.728 304063 chr6 160958949 160958949 G T rs543542931 LPA Nonsynonymous SNV S1927Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 304064 chr8 10469347 10469347 G A rs377368052 RP1L1 Nonsynonymous SNV P754L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.032 304065 chr12 113835168 113835168 A C rs766530653 SDS Nonsynonymous SNV L152R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 304066 chr12 11420752 11420753 GG - PRB3 P144Tfs*111 0 0.003 0.007 0 0 1 0 2 0 0 1 0 304067 chr12 11420755 11420941 CCTTCTGGCTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTTGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG - PRB3 P81Hfs*177 0 0.003 0.007 0 0 1 0 2 0 0 1 0 304068 chr6 167705008 167705008 G A UNC93A Nonsynonymous SNV V11I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.132 304069 chr6 167754955 167754955 C T TTLL2 Nonsynonymous SNV P523S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.277 304070 chr8 15967645 15967645 C G MSR1 Synonymous SNV G372G 0.003 0 0 0 3 0 0 0 1 0 0 0 0.286 304071 chr8 17401076 17401076 C A SLC7A2 Synonymous SNV A76A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 304072 chr6 170563885 170563885 C T rs80103819 LOC154449 0 0 0.003 0 0 0 0 1 0 0 0 0 2.794 304073 chr6 170564075 170564075 G C rs4710777 LOC154449 0 0 0.007 0 0 0 0 2 0 0 0 0 3.107 304074 chr7 140374501 140374501 A G ADCK2 Nonsynonymous SNV K342E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 304075 chr17 48703503 48703503 C A rs984837241 CACNA1G Synonymous SNV T2048T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.876 304076 chr6 25420378 25420378 C A rs79463028 CARMIL1 Synonymous SNV R59R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 304077 chr6 26199358 26199358 G A rs199988683 HIST1H2AD Synonymous SNV G38G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.608 304078 chr6 26458905 26458905 - CCT BTN2A1 L20_S21insL 0 0 0.003 0 0 0 0 1 0 0 0 0 304079 chr12 125453126 125453126 G A rs201142906 DHX37 Synonymous SNV G454G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 304080 chr7 150269248 150269248 A G rs758567100 GIMAP4 Synonymous SNV Q44Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 304081 chr8 27891083 27891083 G A rs762937815 NUGGC Synonymous SNV I581I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 304082 chr8 29194687 29194687 C T rs772962826 DUSP4 Synonymous SNV S347S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.28 304083 chr7 150737991 150737991 G A rs149742369 ABCB8 Nonsynonymous SNV V401M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304084 chr7 151852999 151852999 A T KMT2C Nonsynonymous SNV L3986I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 304085 chr12 18847846 18847846 T C rs761409846 PLCZ1 Nonsynonymous SNV R294G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 304086 chr6 35943251 35943251 G T rs748079827 SLC26A8 Synonymous SNV I291I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 304087 chr8 2056576 2056576 G C rs775293794 MYOM2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 304088 chr7 77326394 77326394 G A rs769064723 APTR 0 0 0 2 0 0 0.005 0 0 0 0 0 7.489 304089 chr8 67883280 67883280 C T rs770365547 PPP1R42 Nonsynonymous SNV V217I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.009 304090 chr6 39267209 39267209 G A rs483353015 KCNK17 Synonymous SNV D331D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.27 304091 chr7 82764906 82764906 G C PCLO Nonsynonymous SNV P654A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.746 304092 chr12 29624812 29624814 CCT - rs750380184 OVCH1 R628del 0 0 0.003 0 0 0 0 1 0 0 0 0 304093 chr8 10587919 10587919 - GTA SOX7 Y8_P9insY 0.001 0 0 0 1 0 0 0 0 0 0 0 304094 chr6 42893174 42893174 G A rs775271650 PTCRA Synonymous SNV T93T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.471 304095 chr6 42937666 42937666 G T PEX6 Nonsynonymous SNV A397D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 304096 chr6 43182886 43182886 G T rs763699696 CUL9 Nonsynonymous SNV A1920S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 304097 chr6 43639633 43639633 G A rs200626450 MRPS18A Nonsynonymous SNV R153C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 304098 chr12 40653340 40653340 C T rs199954611 LRRK2 Nonsynonymous SNV R493C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 304099 chr12 41582906 41582906 G T PDZRN4 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 304100 chr12 43826492 43826492 T C rs765844539 ADAMTS20 Nonsynonymous SNV Y948C 0 0 0.003 0 0 0 0 1 0 0 0 0 22 304101 chr17 73622058 73622058 G A MYO15B 0.003 0 0 0 3 0 0 0 0 0 0 0 26.5 304102 chr12 48375911 48375911 G A rs35504014 COL2A1 Synonymous SNV A709A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.94 304103 chr6 53706922 53706922 A G rs200584999 LRRC1 Synonymous SNV L58L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.005 304104 chr6 53976295 53976295 G A rs12333045 MLIP Synonymous SNV G6G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 304105 chr17 76046827 76046827 G A rs200217894 TNRC6C Nonsynonymous SNV A562T 0.003 0 0 0 3 0 0 0 0 0 0 0 13.43 304106 chr8 133141656 133141656 C G rs774287489 KCNQ3 Synonymous SNV S704S 0.002 0 0 0 2 0 0 0 0 0 0 0 10.18 304107 chr6 70935654 70935654 A G rs1135057 COL9A1 Synonymous SNV P611P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.181 304108 chr17 76967787 76967787 C T rs763684344 LGALS3BP Synonymous SNV A543A 0.003 0 0 0 3 0 0 0 0 0 0 0 13.9 304109 chr8 33346110 33346110 G A rs144540195 MAK16 Synonymous SNV L46L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 304110 chr6 7585979 7585979 C T DSP Synonymous SNV G2229G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.485 304111 chr8 38832022 38832022 C A HTRA4 Stop gain C80X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304112 chr17 78261749 78261749 C A rs149177904 RNF213 Nonsynonymous SNV L133M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.724 304113 chr17 78261978 78261978 T A rs144769597 RNF213 Nonsynonymous SNV I209N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.825 304114 chr6 8041485 8041485 C T rs758659311 BLOC1S5 Nonsynonymous SNV R71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 304115 chr6 84291979 84291979 G A rs764466153 SNAP91 Nonsynonymous SNV T397M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 304116 chr12 53701397 53701397 G C rs769964818 AAAS Nonsynonymous SNV A473G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.939 304117 chr7 100731485 100731485 C T rs780366201 TRIM56 Nonsynonymous SNV R298W 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 304118 chr12 54427112 54427112 C A HOXC5 Nonsynonymous SNV A69D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.73 304119 chr17 78935198 78935198 G A rs773251080 RPTOR Nonsynonymous SNV V1046I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 304120 chr8 144662747 144662747 G A EEF1D Stop gain Q157X 0.002 0 0 0 2 0 0 0 0 0 0 0 39 304121 chr6 90459295 90459295 G T MDN1 Synonymous SNV T1194T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.065 304122 chr7 104749615 104749615 G A rs530228601 KMT2E Nonsynonymous SNV S1232N 0 0 0 2 0 0 0.005 0 0 0 0 0 20.4 304123 chr12 56420770 56420770 C T rs111502407 IKZF4 Synonymous SNV C119C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 304124 chr8 82572851 82572851 G A rs200215384 IMPA1 Nonsynonymous SNV A170V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 304125 chr19 10385523 10385523 C T ICAM1 Synonymous SNV T50T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.12 304126 chr17 79857186 79857186 G A ANAPC11 Nonsynonymous SNV G60S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 304127 chr8 95158369 95158369 C T rs200829359 CDH17 Nonsynonymous SNV E652K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 304128 chr17 80706768 80706768 C T rs767158460 FN3K Nonsynonymous SNV A169V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 304129 chr7 126173555 126173555 C T rs199574186 GRM8 Synonymous SNV T422T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 304130 chr17 7127146 7127146 G A rs35501596 ACADVL Synonymous SNV K406K 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.607 304131 chr8 100050737 100050737 A G rs372597619 VPS13B Synonymous SNV P78P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.919 304132 chr7 131241036 131241041 GGCGAC - PODXL P30_S31del 0.001 0 0 0 1 0 0 0 0 0 0 0 304133 chr8 101078441 101078441 A C rs200474479 RGS22 Nonsynonymous SNV C45W 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 304134 chr8 145748713 145748713 T C rs925063013 LRRC24 Nonsynonymous SNV R230G 0.002 0 0 0 2 0 0 0 0 0 0 0 14.8 304135 chr8 145948719 145948719 A G rs766927445 ZNF251 Nonsynonymous SNV F109S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.723 304136 chr8 104447904 104447904 T G DCAF13 Nonsynonymous SNV M279R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 304137 chr7 100552054 100552054 A G rs531186064 MUC3A Nonsynonymous SNV I879V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 304138 chr18 19780619 19780619 G A GATA6 Nonsynonymous SNV A541T 0.003 0 0 0 3 0 0 0 0 0 0 0 22.8 304139 chr17 7330442 7330442 C A SPEM2 Nonsynonymous SNV P378T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.01 304140 chr18 21479417 21479417 T C LAMA3 Nonsynonymous SNV L392P 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 304141 chr9 20365693 20365693 - AGCTGG rs777046863 MLLT3 S388_F389insSS 0.002 0 0 0 2 0 0 0 0 0 0 0 304142 chr18 25573520 25573520 C T CDH2 Nonsynonymous SNV A337T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.6 304143 chr7 1026834 1026834 C T rs551440848 CYP2W1 Nonsynonymous SNV T304M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 304144 chr12 83289667 83289667 G A TMTC2 Nonsynonymous SNV R242Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 304145 chr7 103004637 103004637 G C PSMC2 Synonymous SNV L213L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 304146 chr7 105636708 105636708 C T rs777649960 CDHR3 Synonymous SNV I119I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 304147 chr12 89918087 89918087 G T rs184768321 GALNT4, POC1B-GALNT4 Synonymous SNV A80A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.367 304148 chr7 107720069 107720069 T C rs372452865 LAMB4 Nonsynonymous SNV I622V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 304149 chr12 93251229 93251229 T C EEA1 Nonsynonymous SNV Q93R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 304150 chr7 116199134 116199134 G A rs759074741 CAV1 Synonymous SNV P79P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.421 304151 chr18 34289115 34289115 C T rs571190184 FHOD3 Nonsynonymous SNV A573V 0.003 0 0 0 3 0 0 0 0 0 0 0 8.638 304152 chr7 116937732 116937732 G T rs535247671 WNT2 Nonsynonymous SNV P263T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 304153 chr7 122342716 122342716 G A RNF148 Nonsynonymous SNV P30L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.075 304154 chr8 143856729 143856729 G A rs770668133 LYNX1 Synonymous SNV F69F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 304155 chr9 86571248 86571248 G A rs560017514 C9orf64 Synonymous SNV N56N 0.002 0 0 0 2 0 0 0 0 0 0 0 9.823 304156 chr7 128492916 128492916 C T rs776613969 FLNC Synonymous SNV H1980H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 304157 chr7 128806703 128806703 C T rs762907793 TSPAN33 Nonsynonymous SNV R182C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 304158 chr9 95021200 95021200 T C rs758132770 IARS1 Nonsynonymous SNV D623G 0.002 0 0 0 2 0 0 0 0 0 0 0 29 304159 chr7 132412606 132412606 C T rs575918618 FLJ40288 0 0 0.003 0 0 0 0 1 0 0 0 0 3.14 304160 chr8 1950514 1950514 A G KBTBD11 Nonsynonymous SNV N386D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 304161 chr18 60646344 60646344 T C rs775312104 PHLPP1 Nonsynonymous SNV F1612L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.23 304162 chr8 144997611 144997611 T G rs797044714 PLEC Synonymous SNV A2148A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.042 304163 chr8 144997848 144997848 C T rs377026986 PLEC Synonymous SNV A2069A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.017 304164 chr13 20717263 20717263 G A rs140530621 GJA3 Synonymous SNV N55N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.264 304165 chr7 142919972 142919972 G A rs757966360 TAS2R40 Synonymous SNV T267T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 304166 chr8 145747901 145747901 - CCCGGC rs545249570 LRRC24 G500_L501insPG 0.001 0 0.003 0 1 0 0 1 0 0 0 0 304167 chr7 148701047 148701047 C T rs146102923 PDIA4 Nonsynonymous SNV D594N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 304168 chr8 146067024 146067024 G A rs148543892 ZNF7 Nonsynonymous SNV G82S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 304169 chr13 36909845 36909845 T G rs749355386 SPART Nonsynonymous SNV E41D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 304170 chr18 8793070 8793070 C G rs116633163 MTCL1 Synonymous SNV A654A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.34 304171 chr9 115760217 115760217 T A rs376373882 ZNF883 Nonsynonymous SNV H108L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 304172 chr18 10731427 10731427 T C PIEZO2 Synonymous SNV R1611R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.604 304173 chr9 116269665 116269665 C G RGS3 Nonsynonymous SNV S114W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 304174 chr7 150884089 150884089 C T rs144038078 ASB10 Synonymous SNV P43P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 304175 chr19 35741390 35741390 G A rs760163038 LSR Synonymous SNV P142P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.611 304176 chr9 117849499 117849499 C G rs117058692 TNC Nonsynonymous SNV G171R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.46 304177 chr9 123182223 123182223 G C rs778964124 CDK5RAP2 Nonsynonymous SNV N1110K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.335 304178 chr7 158447855 158447855 T G rs3214000 NCAPG2 Nonsynonymous SNV E867D 0 0 0.003 0 0 0 0 1 0 0 0 0 23 304179 chr7 158534216 158534216 T C rs77532359 ESYT2 Synonymous SNV E701E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.249 304180 chr7 158545482 158545482 C G rs78543587 ESYT2 Nonsynonymous SNV R491T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.02 304181 chr19 10670113 10670113 T C rs772986833 KRI1 Synonymous SNV T372T 0.003 0 0 0 4 0 0 0 0 0 0 0 0.057 304182 chr7 21655912 21655912 C T rs532007878 DNAH11 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 304183 chr9 35906347 35906347 - CTGCTG rs776869376 HRCT1 L28_A29insLL 0.001 0 0 0 1 0 0 0 0 0 0 0 304184 chr7 21948120 21948120 C T rs201160995 CDCA7L Synonymous SNV V57V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 304185 chr9 127965311 127965311 T G rs372467435 RABEPK Nonsynonymous SNV L7V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 304186 chr8 28932821 28932821 T C rs368364212 KIF13B Nonsynonymous SNV I1500V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 304187 chr9 37740876 37740876 C T rs144670594 FRMPD1 Nonsynonymous SNV P784L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 304188 chr8 27645493 27645493 A G rs202084183 ESCO2 Nonsynonymous SNV K369E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 23 304189 chr7 27147631 27147631 G A rs545309894 HOXA3 Nonsynonymous SNV P412L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 304190 chr9 74489721 74489721 G A ABHD17B Synonymous SNV Y92Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.323 304191 chr7 27192676 27192676 C G rs574048650 HOXA-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 3.89 304192 chr9 131345033 131345033 G A SPTAN1 Nonsynonymous SNV D571N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 304193 chr9 75520940 75520940 C A ALDH1A1 Nonsynonymous SNV C456F 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304194 chr7 30492025 30492025 G A rs553499560 NOD1 Synonymous SNV I336I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.937 304195 chr19 39233072 39233072 T C CAPN12 Nonsynonymous SNV Y135C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 304196 chr14 105857981 105857981 C G rs782667380 PACS2 Nonsynonymous SNV D621E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 304197 chr7 37780436 37780436 G A rs138213333 GPR141 Synonymous SNV V147V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.49 304198 chr7 42951639 42951639 G - rs535406023 C7orf25 L10Sfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 304199 chr7 4304822 4304822 C T rs771321982 SDK1 Nonsynonymous SNV P637S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 304200 chr9 135203609 135203609 A C rs907569728 SETX Nonsynonymous SNV Y1126D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.14 304201 chr7 44613472 44613472 C G rs757028782 DDX56 Nonsynonymous SNV G8A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.309 304202 chr7 47854961 47854961 T C rs562577400 PKD1L1 Nonsynonymous SNV T2354A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 304203 chr7 4917435 4917435 C T RADIL Synonymous SNV L112L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.544 304204 chr9 107589283 107589283 G A rs201076284 ABCA1 Synonymous SNV Y761Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.079 304205 chr9 109691122 109691122 C T rs374072749 ZNF462 Synonymous SNV P1643P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.792 304206 chr7 51096913 51096913 G A rs146220939 COBL Nonsynonymous SNV T627M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 304207 chr9 114192904 114192904 T G rs201061247 ECPAS Nonsynonymous SNV I285L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 304208 chr9 139838422 139838422 G A rs374458979 FBXW5 Synonymous SNV A38A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.74 304209 chr19 44740572 44740572 T C rs150876619 ZNF227 Synonymous SNV D584D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 304210 chr8 107531283 107531283 A G rs755865105 OXR1 Nonsynonymous SNV I47V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.319 304211 chr9 140069893 140069893 C T rs143593793 ANAPC2 Synonymous SNV A684A 0.003 0 0 1 3 0 0.003 0 0 0 0 0 13.51 304212 chr7 6542470 6542470 C T rs868570487 GRID2IP Nonsynonymous SNV G1033R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 304213 chr7 70880921 70880921 C T rs371536707 GALNT17 Synonymous SNV P212P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 304214 chr18 9256268 9256268 A G rs146734594 ANKRD12 Synonymous SNV K978K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.036 304215 chr14 31583214 31583214 G T HECTD1 Nonsynonymous SNV P1909T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 304216 chr19 1912597 1912597 A G rs754448917 ADAT3 Nonsynonymous SNV Q168R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.022 304217 chr9 140318140 140318140 C T NOXA1 Synonymous SNV D53D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.46 304218 chr19 1979771 1979771 C G rs139773586 CSNK1G2 Synonymous SNV V341V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.01 304219 chr8 124382158 124382158 - TCATCA rs145137934 ATAD2 D277_E278insDD 0 0 0 1 0 0 0.003 0 0 0 0 0 304220 chr7 82546112 82546112 C T rs564389310 PCLO Synonymous SNV E3730E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.15 304221 chr19 10204246 10204246 A C ANGPTL6 Nonsynonymous SNV V334G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 304222 chr7 83591114 83591114 G A rs539009187 SEMA3A Nonsynonymous SNV T630I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 304223 chr7 86548540 86548540 A G rs570321845 KIAA1324L Nonsynonymous SNV F256L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 304224 chr9 125391444 125391444 C T rs139740700 OR1B1 Nonsynonymous SNV R124H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 304225 chr7 90896091 90896091 G A rs758605350 FZD1 Synonymous SNV K632K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.15 304226 chr7 91714870 91714870 A G rs201958512 AKAP9 Nonsynonymous SNV Y2965C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.476 304227 chr14 52907388 52907388 A G rs112880111 TXNDC16 Synonymous SNV L628L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.425 304228 chr14 52936831 52936831 A G rs113746978 TXNDC16 Synonymous SNV S509S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.295 304229 chr7 92083938 92083938 G A rs141932124 GATAD1 Synonymous SNV T186T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.95 304230 chr9 126132493 126132493 C T CRB2 Synonymous SNV T387T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 304231 chr14 53020162 53020162 C T rs376047169 GPR137C Synonymous SNV L99L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.144 304232 chr9 126133257 126133257 A G CRB2 Nonsynonymous SNV D642G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 304233 chr14 53250145 53250145 A G rs115214176 GNPNAT1 Synonymous SNV F71F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.47 304234 chr7 92762233 92762233 C T rs750342693 SAMD9L Nonsynonymous SNV E1018K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 304235 chr7 93519482 93519482 C T TFPI2 Nonsynonymous SNV E69K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 304236 chr7 94058528 94058528 C A rs763721360 COL1A2 Nonsynonymous SNV S1247Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 304237 chr7 94252690 94252690 C T rs548306335 SGCE Nonsynonymous SNV R96H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 304238 chr7 97821249 97821249 G A rs536950090 LMTK2 Nonsynonymous SNV R491Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 304239 chr10 14920899 14920899 C G rs534725080 SUV39H2 Synonymous SNV V4V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.493 304240 chr8 143808767 143808767 G T rs782557015 THEM6 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 304241 chr10 23481695 23481695 T C rs1022085624 PTF1A Nonsynonymous SNV L79P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.277 304242 chr8 144671403 144671403 G A rs530995002 EEF1D Synonymous SNV I283I 0 0 0 1 0 0 0.003 0 0 0 0 0 1.261 304243 chr19 14862249 14862249 G A ADGRE2 Nonsynonymous SNV R617C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 304244 chr8 10468094 10468094 G T rs143870426 RP1L1 Nonsynonymous SNV L1172I 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Likely benign 21.5 304245 chr8 10474095 10474095 C T rs776170731 RP1L1 Synonymous SNV V204V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 304246 chr10 27470449 27470449 T C rs150983055 MASTL Synonymous SNV N768N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.514 304247 chr10 29754543 29754543 C T rs111548204 SVIL Synonymous SNV L1612L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.85 304248 chr8 145095702 145095702 G A rs141080428 SPATC1 Nonsynonymous SNV V334I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.034 304249 chr10 35896710 35896710 C T rs35398622 GJD4 Nonsynonymous SNV A90V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 304250 chr14 74947414 74947414 T G NPC2 Synonymous SNV P144P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.978 304251 chr8 145170630 145170632 CTT - rs913793325 WDR97 F1490del 0 0 0 1 0 0 0.003 0 0 0 0 0 304252 chr8 145622971 145622971 C A rs200120943 CPSF1 Nonsynonymous SNV G733C 0 0 0 1 0 0 0.003 0 0 0 0 0 14.8 304253 chr8 125132005 125132005 A G rs569626652 FER1L6 Nonsynonymous SNV S1850G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 304254 chr8 132958819 132958819 A G rs369963354 EFR3A Nonsynonymous SNV H66R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 304255 chr8 135521920 135521920 G A ZFAT Nonsynonymous SNV A1083V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 304256 chr8 142178524 142178524 G A rs371607599 DENND3 Synonymous SNV K725K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.397 304257 chr9 13123285 13123285 G A rs781048567 MPDZ Nonsynonymous SNV S1574L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 304258 chr9 139912721 139912721 C T ABCA2 Synonymous SNV E634E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 304259 chr8 144296896 144296896 C T rs556559035 GPIHBP1 Nonsynonymous SNV R64W 0 0 0.003 0 0 0 0 1 0 0 0 0 9.824 304260 chr14 95912285 95912285 C T rs28526182 SYNE3 Synonymous SNV L531L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.01 304261 chr10 52003094 52003094 G A rs200181012 ASAH2 Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.759 304262 chr8 144663487 144663487 G A rs568576129 EEF1D Synonymous SNV P43P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 304263 chr19 20044630 20044630 A G ZNF93 Nonsynonymous SNV E289G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 304264 chr10 63700100 63700100 G A rs747619728 ARID5B Synonymous SNV K145K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 7.688 304265 chr9 21077334 21077334 T A IFNB1 Nonsynonymous SNV N179Y 0 0 0 2 0 0 0.005 0 0 0 0 0 0.524 304266 chr9 140772669 140772669 - TCCATTCGAGTATATGATCCTGGCCACCATCATCGCCAACTGCATCGTGCTGGCCCTGGAGCAGCACCTCCCTG CACNA1B Frameshift insertion D120Vfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 304267 chr8 144942172 144942172 G A rs546164646 EPPK1 Synonymous SNV P1750P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.665 304268 chr8 144945423 144945425 CCT - rs782116094 EPPK1 E666del 0 0 0.003 0 0 0 0 1 0 0 0 0 304269 chr19 2251250 2251250 G T AMH Nonsynonymous SNV G326V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 304270 chr8 145001038 145001038 G A rs372256096 PLEC Nonsynonymous SNV R1306C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.2 304271 chr15 22954364 22954364 A C rs202236334 CYFIP1 Nonsynonymous SNV N383T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.04 304272 chr15 25319173 25319173 T C rs779009776 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 304273 chr8 145649207 145649207 T A VPS28 Nonsynonymous SNV N216I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.04 304274 chr19 55870069 55870069 G A rs73607046 FAM71E2 Nonsynonymous SNV L723F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 304275 chr8 145741748 145741748 G A rs199773279 RECQL4 Nonsynonymous SNV P252L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.694 304276 chr19 30193800 30193800 G A C19orf12 Nonsynonymous SNV P18L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 304277 chr8 17132271 17132271 C T rs560097044 VPS37A Nonsynonymous SNV P124L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.8 304278 chr8 17796373 17796373 C T rs373403157 PCM1 Nonsynonymous SNV A156V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 304279 chr8 1814737 1814737 C T rs2272708 ARHGEF10 Synonymous SNV A198A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 304280 chr9 72338514 72338514 A G rs12352448 PTAR1 Synonymous SNV H146H 0.001 0 0 2 1 0 0.005 0 0 0 0 0 5.608 304281 chr9 72347242 72347242 T C rs114918767 PTAR1 Nonsynonymous SNV Q73R 0.001 0 0 2 1 0 0.005 0 0 0 0 0 17.98 304282 chr10 15600179 15600179 G A ITGA8 Nonsynonymous SNV T872I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 304283 chr10 88476373 88476373 C T rs200838004 LDB3 Synonymous SNV T444T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.36 304284 chr8 21560326 21560326 C T rs528194056 GFRA2 Synonymous SNV T270T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 304285 chr8 22021530 22021530 C T rs529959941 SFTPC Synonymous SNV G137G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.8 304286 chr9 79267454 79267454 A G PRUNE2 Synonymous SNV N98N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.419 304287 chr8 22103061 22103061 T A POLR3D Synonymous SNV P33P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 304288 chr8 22104777 22104777 A G rs761487828 POLR3D Nonsynonymous SNV E70G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 304289 chr10 18840769 18840769 G A rs764396387 NSUN6 Stop gain R211X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 304290 chr8 25365022 25365022 A C rs538582951 CDCA2 Nonsynonymous SNV K932T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 304291 chr8 27321471 27321471 G A rs535699325 CHRNA2 Synonymous SNV A163A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.37 304292 chr19 46283137 46283137 T G rs371923244 DMPK Nonsynonymous SNV T61P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 304293 chr8 27382901 27382901 C T rs201276018 EPHX2 Nonsynonymous SNV P295S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 304294 chr8 27468229 27468229 A C rs117225896 MIR6843 0 0 0.003 0 0 0 0 1 0 0 0 0 1.316 304295 chr19 46417875 46417875 C T rs140269321 NANOS2 Nonsynonymous SNV R26Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 304296 chr10 97396924 97396924 C T ALDH18A1 Nonsynonymous SNV A51T 0.002 0 0 0 2 0 0 0 0 0 0 0 33 304297 chr8 30706094 30706094 C T rs560836932 TEX15 Nonsynonymous SNV G530E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 304298 chr15 45974848 45974848 C T rs766026112 SQOR Nonsynonymous SNV A346V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 304299 chr19 47548750 47548750 A G NPAS1 Synonymous SNV T538T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 304300 chr19 47569813 47569813 G T rs371115381 ZC3H4 Nonsynonymous SNV P1238T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.927 304301 chr15 49420216 49420216 A G rs200813588 COPS2 Synonymous SNV Y428Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 304302 chr8 37692731 37692731 C T rs200624144 ADGRA2 Nonsynonymous SNV P550S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 304303 chr15 50279729 50279729 C T rs771553739 ATP8B4 Nonsynonymous SNV V203M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 304304 chr8 38458749 38458749 C T rs539642095 RNF5P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.114 304305 chr10 38120643 38120643 G A ZNF248 Nonsynonymous SNV P547L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 304306 chr8 400000 400000 T G FBXO25 Nonsynonymous SNV L64R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 304307 chr10 102988343 102988343 G T LBX1 Nonsynonymous SNV A77E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 304308 chr8 52287284 52287284 C T rs371171299 PXDNL Nonsynonymous SNV G1189S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 304309 chr19 691928 691928 C T rs759832541 PRSS57 Nonsynonymous SNV G103D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 304310 chr9 107298734 107298734 T A OR13C3 Nonsynonymous SNV N121Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 304311 chr15 56999284 56999284 T C ZNF280D Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.256 304312 chr15 57731353 57731353 T A CGNL1 Nonsynonymous SNV S386T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 304313 chr8 57876378 57876378 C G rs560353101 IMPAD1 Nonsynonymous SNV D352H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 304314 chr8 67680091 67680091 G A rs113087684 PTTG3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.707 304315 chr8 71573215 71573215 A G rs570534575 LACTB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 304316 chr8 72754980 72754980 T A rs375892944 MSC Synonymous SNV T179T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 304317 chr19 8601851 8601851 C T rs148281976 MYO1F Nonsynonymous SNV R590Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 304318 chr8 74205020 74205022 CTT - rs556746526 RPL7 K9del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 304319 chr8 76472663 76472663 T C rs578070113 HNF4G Nonsynonymous SNV L393S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 304320 chr8 81905366 81905366 G C rs552574839 PAG1 Nonsynonymous SNV L33V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 304321 chr10 118220796 118220796 A G PNLIPRP3 Nonsynonymous SNV K268E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.62 304322 chr10 119001324 119001324 G C SLC18A2 Synonymous SNV V40V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 304323 chr10 119134498 119134498 T C PDZD8 Nonsynonymous SNV T81A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 304324 chr15 71188227 71188227 G A rs778263578 LRRC49 Nonsynonymous SNV G54S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 304325 chr15 72968416 72968416 G A rs753524174 HIGD2B Synonymous SNV T100T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.333 304326 chr19 42794064 42794064 G C rs752136581 CIC Nonsynonymous SNV E475D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.375 304327 chr8 95392561 95392561 A G rs750787729 RAD54B Nonsynonymous SNV Y503H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 304328 chr8 95869208 95869208 - A rs748261448 INTS8 0 0 0.003 0 0 0 0 1 0 0 0 0 304329 chr15 75115040 75115040 - A rs761119124 LMAN1L Frameshift insertion E398Rfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 304330 chr8 95942915 95942915 T C rs761569527 TP53INP1 Nonsynonymous SNV Y172C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 304331 chr8 95952176 95952176 T C rs763696554 TP53INP1 Nonsynonymous SNV M129V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 304332 chr9 124931983 124931983 C T rs142170884 MORN5 Synonymous SNV D85D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 304333 chr15 75684892 75684892 T C rs761118636 SIN3A Nonsynonymous SNV T848A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.47 304334 chr9 100057269 100057269 G A rs765672575 SUGT1P4-STRA6LP, SUGT1P4-STRA6LP-CCDC180 0 0 0.003 0 0 0 0 1 0 0 0 0 1.508 304335 chr10 73405660 73405660 G A rs370549448 CDH23 Nonsynonymous SNV V405I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.32 304336 chr15 79748769 79748769 A G rs578145908 MINAR1 Nonsynonymous SNV I94V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 304337 chr9 114332484 114332484 G A rs530800998 PTGR1 Nonsynonymous SNV P256S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.585 304338 chr19 45254487 45254487 C G rs765593954 BCL3 Nonsynonymous SNV A87G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.76 304339 chr9 116770777 116770777 G A rs368206229 ZNF618 Nonsynonymous SNV V201M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 304340 chr11 609305 609305 C T rs765894190 PHRF1 Synonymous SNV L1283L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.72 304341 chr9 117168753 117168753 T C rs756217407 WHRN Synonymous SNV P355P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 304342 chr9 117797598 117797598 C T rs566154461 TNC Nonsynonymous SNV R1891K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 304343 chr9 117852972 117852972 C T rs772948384 TNC Nonsynonymous SNV R109Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 304344 chr9 118969747 118969747 T G PAPPA Nonsynonymous SNV D497E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 304345 chr19 47994047 47994047 T C NAPA Nonsynonymous SNV K245E 0 0 0 1 0 0 0.003 0 0 0 0 0 21 304346 chr19 48374738 48374738 G A rs1032191564 SULT2A1 Nonsynonymous SNV P278S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.07 304347 chr1 1139831 1139832 CA - TNFRSF18 A116Lfs*238 0.001 0 0 0 1 0 0 0 0 0 0 0 304348 chr1 115151482 115151482 C T rs201584682 DENND2C Nonsynonymous SNV R404H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 304349 chr10 104176706 104176706 C T rs371738181 PSD Synonymous SNV P30P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.168 304350 chr9 130167788 130167788 G A rs201045999 SLC2A8 Nonsynonymous SNV V251I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 304351 chr9 130207413 130207413 T C rs531773568 ZNF79 Synonymous SNV C344C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.646 304352 chr9 130427574 130427574 C T rs567071026 STXBP1 Synonymous SNV L209L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.75 304353 chr16 12009554 12009565 GCCGCCGCCACT - GSPT1 S5_G8del 0 0 0.003 0 0 0 0 1 0 0 0 0 304354 chr9 130475450 130475450 C T rs575702552 CFAP157 Nonsynonymous SNV R486C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 304355 chr9 130941259 130941259 G T rs45559035 CIZ1 Synonymous SNV P308P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.56 304356 chr16 12798905 12798905 C A CPPED1 Synonymous SNV G97G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.068 304357 chr9 131039012 131039012 G A rs200738646 SWI5 Nonsynonymous SNV C135Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 304358 chr9 131186740 131186740 C T rs202021528 CERCAM Nonsynonymous SNV R127W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 304359 chr10 24669947 24669947 G A rs200258540 KIAA1217 Synonymous SNV A168A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 304360 chr9 133760147 133760147 G A rs376162814 ABL1 Nonsynonymous SNV V824M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 304361 chr11 1083835 1083835 C T rs549620829 MUC2 Synonymous SNV A789A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.34 304362 chr19 57036222 57036222 T C rs73629951 ZNF471 Synonymous SNV F188F 0.003 0 0 0 3 0 0 0 0 0 0 0 1.398 304363 chr19 57060391 57060391 A G rs143915055 ZFP28 Synonymous SNV L196L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.108 304364 chr19 57065813 57065813 G A rs79316066 ZFP28 Synonymous SNV R553R 0.003 0 0 0 3 0 0 0 0 0 0 0 6.895 304365 chr16 1996955 1996955 G A rs149645742 RPL3L Nonsynonymous SNV T278M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 304366 chr11 2432869 2432869 C T rs779977428 TRPM5 Nonsynonymous SNV R868H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304367 chr9 138588557 138588557 T C rs143757358 SOHLH1 Nonsynonymous SNV R188G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.8 304368 chr16 23721860 23721860 G A rs56006159 ERN2 Synonymous SNV I70I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 304369 chr16 29676237 29676237 C T rs749483155 SPN Synonymous SNV D396D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 304370 chr16 29907159 29907159 G A rs370076865 SEZ6L2 Synonymous SNV S134S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 304371 chr9 139973017 139973017 C T rs570664703 UAP1L1 Synonymous SNV F186F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 304372 chr1 155026942 155026942 A T rs6427128 ADAM15 Nonsynonymous SNV K201M 0.001 0 0 0 1 0 0 0 0 0 0 0 7.139 304373 chr10 18289734 18289734 A T rs375280461 SLC39A12 Nonsynonymous SNV H446L 0 0 0 2 0 0 0.005 0 0 0 0 0 31 304374 chr1 155449802 155449802 C T rs763045546 ASH1L Synonymous SNV R953R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.928 304375 chr19 7143060 7143060 A G rs776184742 INSR Nonsynonymous SNV V758A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.298 304376 chr10 135012407 135012407 G A rs553286379 KNDC1 Nonsynonymous SNV A799T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 304377 chr10 135012496 135012496 G A rs551786373 KNDC1 Synonymous SNV P828P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.084 304378 chr10 135083463 135083463 G A rs151131324 ADAM8 Nonsynonymous SNV R601C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 304379 chr19 54684761 54684761 C T rs763416489 MBOAT7 Nonsynonymous SNV A122T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 304380 chr9 14808008 14808008 C T rs761348507 FREM1 Synonymous SNV A1006A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 304381 chr10 135193642 135193642 C T rs771438000 PAOX Synonymous SNV H107H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 304382 chr19 8201180 8201180 G T rs764204317 FBN3 Stop gain C453X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 304383 chr9 22451906 22451906 C T rs76494653 DMRTA1 Nonsynonymous SNV P504L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 304384 chr9 24544969 24544969 C G rs367775753 IZUMO3 0 0 0.003 0 0 0 0 1 0 0 0 0 24 304385 chr9 26920328 26920328 T C rs570107266 PLAA Nonsynonymous SNV Y365C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 304386 chr16 422112 422112 C T rs753832478 TMEM8A Nonsynonymous SNV G731R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 304387 chr1 157665394 157665394 G A rs112099510 FCRL3 Nonsynonymous SNV P379L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 304388 chr9 33473789 33473789 C T rs554752206 NOL6 Nonsynonymous SNV E18K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 304389 chr9 34514426 34514426 C A rs76334696 DNAI1 Nonsynonymous SNV T539N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.4 304390 chr9 34517380 34517380 T G DNAI1 Nonsynonymous SNV L643R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 304391 chr9 34972477 34972477 G A rs200891743 PHF24 Synonymous SNV A171A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 304392 chr9 35556429 35556429 C A rs201160405 RUSC2 Nonsynonymous SNV D111E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 304393 chr1 158914714 158914714 T C rs771761848 PYHIN1 Nonsynonymous SNV L414P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.928 304394 chr9 35563256 35563256 G A rs779315158 FAM166B Nonsynonymous SNV R65W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 304395 chr9 35957908 35957908 A G rs761088054 OR2S2 Nonsynonymous SNV F63S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 304396 chr16 5122054 5122054 C T rs545347166 ALG1 Synonymous SNV F68F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 304397 chr1 159751959 159751959 G C rs147728803 DUSP23 Nonsynonymous SNV C95S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 304398 chr10 49982649 49982649 C T rs115706447 WDFY4 Synonymous SNV P900P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.93 304399 chr16 56872886 56872886 G A rs190565265 NUP93 Nonsynonymous SNV A558T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 304400 chr9 713428 713428 C G rs374172115 KANK1 Nonsynonymous SNV P730A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.037 304401 chr9 72072044 72072044 G A rs751419556 APBA1 Synonymous SNV G509G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 304402 chr9 72356727 72356727 T C rs765616078 PTAR1 Nonsynonymous SNV T102A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 304403 chr16 61823381 61823381 G A rs202205123 CDH8 Nonsynonymous SNV S428F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 304404 chr9 77611653 77611653 T C rs13284839 CARNMT1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.541 304405 chr1 165513849 165513849 C T rs140364875 LRRC52 Nonsynonymous SNV L106F 0.003 0.003 0 0 3 1 0 0 0 0 0 0 27.7 304406 chr16 67261835 67261835 G A rs1002839456 TMEM208 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.5 304407 chr10 61946646 61946646 C T rs199700114 ANK3 Nonsynonymous SNV A621T 0 0 0 1 0 0 0.003 0 0 0 0 0 35 304408 chr9 79946973 79946973 C A rs528628591 VPS13A Synonymous SNV T1974T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.47 304409 chr10 70670072 70670072 C T rs148713144 DDX50 Nonsynonymous SNV R132C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 304410 chr9 90342645 90342645 G T rs538734131 CTSL 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 304411 chr11 9005439 9005439 G T NRIP3 Synonymous SNV V231V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.078 304412 chr1 45294873 45294873 G A PTCH2 Nonsynonymous SNV L443F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.06 304413 chr1 179414265 179414265 A C AXDND1 Nonsynonymous SNV Q575P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 304414 chrUn_gl000220 118534 118534 T G RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.007 0 0 0 0 2 0 0 0 0 304415 chrUn_gl000220 118540 118540 G T RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 304416 chrUn_gl000220 118552 118552 G A RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 304417 chrX 100079201 100079201 G A CSTF2 Synonymous SNV V219V 0 0 0.007 0 0 0 0 2 0 0 1 0 4.283 304418 chr16 76482700 76482700 A G rs146416107 CNTNAP4 Nonsynonymous SNV N131S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 304419 chrX 103495164 103495190 TGGCACAGGCGCCATGGGCGGCCCGGT - rs782446625 ESX1 T314_P322del 0 0 0.007 0 0 0 0 2 0 0 1 0 304420 chrX 114426176 114426176 G A rs782003534 RBMXL3 Synonymous SNV S724S 0 0 0.007 0 0 0 0 2 0 0 1 0 9.55 304421 chr11 2869143 2869145 CGT - KCNQ1 V648del 0.001 0 0 0 1 0 0 0 0 0 0 0 304422 chr11 3038464 3038464 C T rs755416127 CARS1 Nonsynonymous SNV V514I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 304423 chr1 182763554 182763554 C T rs373001402 NPL Synonymous SNV I16I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 304424 chrX 134711302 134711302 C T rs782206953 INTS6L Nonsynonymous SNV S653L 0 0 0.007 0 0 0 0 2 0 0 1 0 21.8 304425 chr1 183519030 183519030 G A rs377291571 SMG7 Synonymous SNV P993P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 304426 chrX 13645154 13645154 C T rs753624254 EGFL6 Nonsynonymous SNV P438L 0 0 0.007 0 0 0 0 2 0 0 1 0 24.2 304427 chrX 150869203 150869203 G C PRRG3 Nonsynonymous SNV V132L 0 0 0.007 0 0 0 0 2 0 0 1 0 22 304428 chr16 84531545 84531545 G A MEAK7 Synonymous SNV L50L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.302 304429 chr16 85722417 85722417 C T rs749616681 GINS2 Nonsynonymous SNV G30R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 304430 chrX 154157386 154157386 G C rs782791962 F8 Nonsynonymous SNV P1560R 0 0 0.007 0 0 0 0 2 0 0 1 0 8.644 304431 chrX 18912352 18912352 C T rs756634525 PHKA2 Synonymous SNV Q1169Q 0 0 0.007 0 0 0 0 2 0 0 1 0 14.81 304432 chr11 34988219 34988219 C T rs148645836 PDHX Nonsynonymous SNV T210M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 304433 chr16 88804192 88804192 G A rs959344565 PIEZO1 Nonsynonymous SNV R351W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.55 304434 chr1 118693246 118693246 C T rs865892996 SPAG17 Nonsynonymous SNV E79K 0.001 0 0 0 1 0 0 0 0 0 0 0 25 304435 chrX 32486695 32486695 G A rs146384458 DMD Nonsynonymous SNV R1020C 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 23.2 304436 chr16 88815802 88815802 G C PIEZO1 Nonsynonymous SNV C50W 0 0 0.003 0 0 0 0 1 0 0 0 0 9.538 304437 chr10 101606774 101606774 C T rs368800587 ABCC2 Synonymous SNV Y1401Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.398 304438 chrX 49040288 49040288 G A rs781862654 PRICKLE3 Nonsynonymous SNV R3W 0 0 0.007 0 0 0 0 2 0 0 1 0 33 304439 chr16 89753161 89753161 T G rs777545482 CDK10 Nonsynonymous SNV C15G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.034 304440 chr1 204082229 204082229 A G SOX13 Synonymous SNV Q62Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.421 304441 chrX 7252077 7252077 G A rs146965552 STS Nonsynonymous SNV R436H 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 304442 chrX 74962267 74962267 T C rs753326666 TTC3P1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.15 304443 chr17 16001757 16001757 A C rs150168981 NCOR1 Nonsynonymous SNV L822R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 304444 chr17 19611759 19611759 T C rs985363516 SLC47A2 Nonsynonymous SNV H198R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 304445 chr17 2075973 2075973 G A rs111672618 SMG6 Synonymous SNV Y204Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.875 304446 chr10 120354216 120354216 G A rs573363900 PRLHR Synonymous SNV L181L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 1.106 304447 chr1 155451424 155451424 A G rs779585968 ASH1L Synonymous SNV L413L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 304448 chr11 56143263 56143263 T C rs765274900 OR8U1, OR8U8 Nonsynonymous SNV L55P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 304449 chr11 56143264 56143264 C T rs762866026 OR8U1, OR8U8 Synonymous SNV L55L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.691 304450 chr17 2238061 2238061 G A rs138934282 TSR1 Nonsynonymous SNV A229V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 304451 chr1 22216488 22216488 C T rs374500978 HSPG2 Nonsynonymous SNV R187Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 304452 chr10 123844697 123844697 G A rs375029779 TACC2 Synonymous SNV E894E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.276 304453 chr11 17336976 17336976 T C NUCB2 Nonsynonymous SNV L319S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 304454 chr17 33880458 33880458 G T rs919934942 SLFN14 Nonsynonymous SNV Q399K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 304455 chr1 227288721 227288721 C T rs3939280 CDC42BPA Nonsynonymous SNV D660N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 304456 chr17 36499413 36499413 G C rs766904818 GPR179 Nonsynonymous SNV A87G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 304457 chr1 1262753 1262753 C T rs370459639 CPTP Synonymous SNV H85H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.8 304458 chr17 36666233 36666233 C T ARHGAP23 Synonymous SNV S1167S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 304459 chr17 37340373 37340373 G A rs147889821 CACNB1 Nonsynonymous SNV T270M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 304460 chr1 228504487 228504487 C T OBSCN Nonsynonymous SNV L4455F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 304461 chr17 37682299 37682299 A C CDK12 Nonsynonymous SNV T1164P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.156 304462 chr1 232942679 232942679 T C rs202096626 MAP10 Nonsynonymous SNV L637P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 304463 chr1 170994508 170994508 G T MROH9 Nonsynonymous SNV R743L 0.003 0 0 0 3 0 0 0 0 0 0 0 10.52 304464 chr20 3641688 3641688 G A rs913989720 GFRA4 Stop gain Q99X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 304465 chr17 39890541 39890541 G A rs189020240 HAP1 Nonsynonymous SNV R116W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 304466 chr10 31816010 31816012 GAG - rs369270839 ZEB1 E997del 0 0 0.003 0 0 0 0 1 0 0 0 0 304467 chr10 45958889 45958889 C A rs765614353 MARCHF8 Synonymous SNV S266S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.179 304468 chr17 42851703 42851703 G A rs777900903 ADAM11 Nonsynonymous SNV V145M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 304469 chr17 4500260 4500260 G C rs547597629 SMTNL2 Synonymous SNV T365T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.331 304470 chr1 182517496 182517496 G A rs202140120 RGSL1 Nonsynonymous SNV R905Q 0.003 0 0 0 3 0 0 0 0 0 0 0 22.3 304471 chr11 65429546 65429546 G A rs757961591 RELA Synonymous SNV A16A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.185 304472 chr1 15844701 15844701 G A CASP9 Nonsynonymous SNV P108S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.47 304473 chr11 66359237 66359237 T G rs927132168 CCDC87 Nonsynonymous SNV Q417P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.049 304474 chr10 58118569 58118569 T C rs370677108 ZWINT Nonsynonymous SNV Q207R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 304475 chr10 61832471 61832471 T C ANK3 Nonsynonymous SNV E2723G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 304476 chr11 67925892 67925892 C T rs146086325 KMT5B Nonsynonymous SNV A469T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.329 304477 chr11 55595503 55595503 T C rs200443611 OR5L2 Nonsynonymous SNV V270A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 304478 chr10 70719950 70719950 C T rs148037952 DDX21 Nonsynonymous SNV P91L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.862 304479 chr1 193038752 193038752 C G rs56342941 RO60 Nonsynonymous SNV P190A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.09 304480 chr1 160144022 160144022 C T rs779734475 ATP1A4 Nonsynonymous SNV L705F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 304481 chr1 196311284 196311284 A G rs148698179 KCNT2 Nonsynonymous SNV V493A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.05 304482 chr20 60575249 60575249 C G TAF4 Synonymous SNV T906T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 304483 chr1 28211945 28211945 C T THEMIS2 Nonsynonymous SNV P620L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.92 304484 chr17 58120427 58120427 C T rs147145300 MIR4737 0 0 0.003 0 0 0 0 1 0 0 0 0 3.515 304485 chr10 79784833 79784833 A T rs1054757283 POLR3A Nonsynonymous SNV L129Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 304486 chr1 201980277 201980277 T C rs143610955 ELF3 Nonsynonymous SNV C5R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 304487 chr10 85967987 85967987 A G rs148651354 CDHR1 Nonsynonymous SNV I341V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 304488 chr20 62172813 62172813 G A rs529367104 SRMS Synonymous SNV F369F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 304489 chr17 6337281 6337281 G A rs62635774 AIPL1 Synonymous SNV S78S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.942 304490 chr1 203134319 203134319 G A rs752666423 ADORA1 Nonsynonymous SNV G23D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.936 304491 chr1 36181236 36181236 G A C1orf216 Synonymous SNV A229A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.842 304492 chr1 39781211 39781211 G C MACF1 Nonsynonymous SNV L1104F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 304493 chr1 40928384 40928384 T C ZFP69B Nonsynonymous SNV I243T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 304494 chr11 100803988 100803988 G A rs755910052 ARHGAP42 Synonymous SNV Q233Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 304495 chr1 212969897 212969899 AGG - TATDN3 G47del 0.001 0 0 0 1 0 0 0 0 0 0 0 304496 chr1 43891734 43891734 C T rs151189395 SZT2 Synonymous SNV C985C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.07 304497 chr17 73230835 73230835 C T rs779241237 NUP85 Synonymous SNV F527F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.82 304498 chr17 74621557 74621557 T C rs778767132 ST6GALNAC1 Nonsynonymous SNV Y553C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 304499 chr17 74738349 74738349 A G rs769763636 MFSD11 Nonsynonymous SNV Q144R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 304500 chr11 63279262 63279262 G A rs562373514 LGALS12 Synonymous SNV S151S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 304501 chr11 64068274 64068274 G A rs749905476 CATSPERZ Nonsynonymous SNV G56D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.678 304502 chr11 114121223 114121223 G C ZBTB16 Nonsynonymous SNV E627D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 304503 chr11 64109187 64109187 G A rs191336693 CCDC88B Synonymous SNV L216L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 304504 chr11 64109531 64109531 T A rs200595748 CCDC88B Synonymous SNV A247A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.754 304505 chr11 64111382 64111382 G A rs200602788 CCDC88B Nonsynonymous SNV G484D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.357 304506 chr1 62728826 62728826 G A rs936418984 KANK4 Nonsynonymous SNV T198M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 304507 chr11 117242091 117242091 C T CEP164 Nonsynonymous SNV A354V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.64 304508 chr11 64665201 64665201 G A rs374503749 ATG2A Nonsynonymous SNV T1662M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 304509 chr11 64677380 64677380 G A rs2285347 ATG2A Nonsynonymous SNV A627V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.43 304510 chr11 64812082 64812082 G A rs201798118 SAC3D1 Synonymous SNV P320P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.903 304511 chr1 230928616 230928616 T A rs190359189 CAPN9 Nonsynonymous SNV D541E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 304512 chr1 72058543 72058543 A T rs3795696 NEGR1 Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.847 304513 chr11 66103345 66103345 C T rs150903047 RIN1 Synonymous SNV T62T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 304514 chr1 23418948 23418948 A T rs767443196 LUZP1 Nonsynonymous SNV S603T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.32 304515 chr11 124564245 124564245 A G rs36001463 SPA17 Nonsynonymous SNV K120R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 304516 chr11 124670096 124670096 C G MSANTD2 Nonsynonymous SNV A61P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 304517 chr17 934957 934957 C T rs963013506 ABR Nonsynonymous SNV D9N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 15.22 304518 chr1 84963142 84963142 T C rs41284587 RPF1 Nonsynonymous SNV F347L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304519 chr18 13427473 13427473 A G rs887805139 LDLRAD4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.485 304520 chr11 130275633 130275633 C T rs755691092 ADAMTS8 Synonymous SNV P830P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.718 304521 chr18 21494509 21494509 C T rs147463397 LAMA3 Nonsynonymous SNV R824W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.4 304522 chr1 86934740 86934740 A G CLCA1 Nonsynonymous SNV N29S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 304523 chr18 21494788 21494788 T G rs748635596 LAMA3 Synonymous SNV V871V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.127 304524 chr11 125495779 125495779 G A CHEK1 Nonsynonymous SNV D42N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.799 304525 chr18 29038474 29038474 C T DSG3 Nonsynonymous SNV P95S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 304526 chr1 225195144 225195144 T C rs149893393 DNAH14 Synonymous SNV D335D 0 0 0 1 0 0 0.003 0 0 0 0 0 3.843 304527 chr11 77937696 77937696 A G rs147302310 GAB2 Nonsynonymous SNV V303A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 304528 chr1 94054854 94054854 C T BCAR3 Synonymous SNV R112R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 304529 chr11 17742932 17742932 G A rs766804536 MYOD1 Synonymous SNV P280P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.338 304530 chr12 6715517 6715517 G C rs777986787 CHD4 Nonsynonymous SNV P8R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 304531 chr11 93432817 93432817 G A rs202195781 CEP295 Nonsynonymous SNV R1580H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.35 304532 chr18 47812437 47812437 C T rs568303411 CXXC1 Synonymous SNV S138S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 304533 chr11 2170469 2170469 G A rs78341923 INS-IGF2 Synonymous SNV A98A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.536 304534 chr1 26107434 26107434 C T rs766601042 MAN1C1 Nonsynonymous SNV T494I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 304535 chr1 233161071 233161071 T C rs566012905 PCNX2 Nonsynonymous SNV K1476E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.436 304536 chr1 233297018 233297018 C T rs200009477 PCNX2 Nonsynonymous SNV R1122Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 304537 chr1 233388418 233388418 C T rs376836884 PCNX2 Nonsynonymous SNV A651T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.399 304538 chr11 102573728 102573728 C A rs370166457 MMP27 Nonsynonymous SNV D155Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304539 chr18 60985621 60985621 G C rs747085111 BCL2 Synonymous SNV V93V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.984 304540 chr12 12630678 12630678 C T rs61757366 DUSP16 Nonsynonymous SNV V363M 0.002 0 0 0 2 0 0 0 0 0 0 0 1.284 304541 chr11 111953637 111953637 C T rs368315610 NKAPD1 Nonsynonymous SNV R275C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 304542 chr12 16377388 16377388 A G rs747638272 SLC15A5 Synonymous SNV Y437Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.113 304543 chr20 25657180 25657180 C T ZNF337 Synonymous SNV K248K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 304544 chr12 21015406 21015406 G A rs180875376 SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV R153H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 304545 chr18 74624237 74624237 T C rs758330748 ZNF236 Nonsynonymous SNV L948P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 304546 chr1 3414934 3414934 C T rs199620875 MEGF6 0.001 0 0 0 1 0 0 0 0 0 0 0 22 304547 chr18 77474801 77474801 C A rs745973351 CTDP1 Synonymous SNV G328G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.563 304548 chr11 46701294 46701294 G T rs763646448 ARHGAP1 Nonsynonymous SNV L311M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 304549 chr1 38334206 38334206 C T INPP5B Nonsynonymous SNV M592I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 304550 chr11 117395739 117395739 C T rs139126238 DSCAML1 Nonsynonymous SNV G240S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 304551 chr12 27067365 27067365 T C rs776151698 INTS13 Synonymous SNV Q465Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.659 304552 chr1 37941311 37941311 C G ZC3H12A Nonsynonymous SNV L72V 0.003 0 0 0 3 0 0 0 0 0 0 0 22.9 304553 chr1 38151944 38151944 C T rs747825115 C1orf109 0.002 0 0 0 2 0 0 0 0 0 0 0 5.253 304554 chr19 10334659 10334659 G A rs200973983 S1PR2 Nonsynonymous SNV P308L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 304555 chr11 120352121 120352121 G A rs567772094 ARHGEF12 Nonsynonymous SNV D1445N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 304556 chr12 45444683 45444683 C G DBX2 Nonsynonymous SNV A10P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 304557 chr1 45293576 45293576 C T PTCH2 Stop gain W666X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 304558 chr1 43393362 43393362 C T rs1027810691 SLC2A1 Nonsynonymous SNV G398S 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 304559 chr19 11039076 11039081 GCCGAT - YIPF2 S3_A4del 0 0 0.003 0 0 0 0 1 0 0 0 0 304560 chr11 128709031 128709031 T G KCNJ1 Nonsynonymous SNV T389P 0.001 0 0 0 1 0 0 0 0 0 0 0 26 304561 chr19 1555641 1555641 A T MEX3D Nonsynonymous SNV V626D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 304562 chr20 5283038 5283038 C T rs781065670 PROKR2 Nonsynonymous SNV R268H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 304563 chr1 55680636 55680636 C G USP24 Nonsynonymous SNV G51R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 304564 chr19 15918678 15918678 G A rs201182090 OR10H1 Nonsynonymous SNV T57M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 304565 chr19 16611836 16611836 C T rs371197016 C19orf44 Nonsynonymous SNV S78L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 304566 chr12 4543487 4543487 T A rs7961645 FGF6 Nonsynonymous SNV D174V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 304567 chr12 4614545 4614545 A G rs61752088 C12orf4 Synonymous SNV D172D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.336 304568 chr19 17396609 17396609 G A rs772897917 ANKLE1 Synonymous SNV A515A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.957 304569 chr20 60773902 60773902 C T rs142575745 MTG2 Synonymous SNV A227A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.2 304570 chr1 41012965 41012965 G A rs375339259 ZNF684 Nonsynonymous SNV E324K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 304571 chr12 56351763 56351763 C T rs145035997 PMEL Nonsynonymous SNV R106Q 0.003 0 0 0 3 0 0 0 0 0 0 0 34 304572 chr12 56527887 56527887 A C rs1042202428 ESYT1 Synonymous SNV P499P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.199 304573 chr1 68948325 68948325 C A rs375196214 DEPDC1 Nonsynonymous SNV R389I 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 304574 chr12 57549993 57549993 C G rs150414361 LRP1 Synonymous SNV T448T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.67 304575 chr19 19651032 19651032 C T CILP2 Synonymous SNV S61S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 304576 chr19 19946219 19946219 G A rs146435957 ZNF56 Synonymous SNV L10L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.456 304577 chr19 20117303 20117303 C T rs115945791 ZNF682 Synonymous SNV T304T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 304578 chr1 45190238 45190240 CGC - ARMH1 A317del 0 0 0 1 0 0 0.003 0 0 0 0 0 304579 chr1 46120479 46120479 C T rs769547792 GPBP1L1 Synonymous SNV L71L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.68 304580 chr21 30693693 30693693 A G rs753699279 BACH1 Nonsynonymous SNV D31G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 304581 chr1 899895 899895 C A KLHL17 Nonsynonymous SNV P562H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 304582 chr12 77444514 77444514 A G rs763032704 E2F7 Nonsynonymous SNV V127A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.18 304583 chr1 90493066 90493068 GAA - rs767098758 ZNF326 E314del 0.002 0 0 0 2 0 0 0 0 0 0 0 304584 chr12 15784500 15784500 G A EPS8 Synonymous SNV S640S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.278 304585 chr11 74547581 74547581 G A rs371927693 RNF169 Nonsynonymous SNV G645R 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 304586 chr19 35617187 35617187 A G rs148987769 LGI4 Nonsynonymous SNV I429T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 27.4 304587 chr12 81503410 81503410 A C rs139584882 ACSS3 Nonsynonymous SNV K127T 0.002 0 0 0 2 0 0 0 0 0 0 0 27 304588 chr1 93309409 93309409 A G rs967296287 DIPK1A Nonsynonymous SNV I228T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 304589 chr12 21030795 21030795 G T SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV G326C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 304590 chr12 88472978 88472978 C T rs116469117 CEP290 Nonsynonymous SNV R1752Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 35 304591 chr12 27849513 27849513 G T rs74074228 REP15 Synonymous SNV S6S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.715 304592 chr12 27919628 27919628 T C MANSC4 Nonsynonymous SNV T112A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 304593 chr11 5922042 5922042 C T OR52E5 Synonymous SNV S16S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 304594 chr11 85725984 85725984 T C rs373046489 PICALM Nonsynonymous SNV M159V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 304595 chr19 36981211 36981211 G A rs749853344 LOC728752 0 0 0.003 0 0 0 0 1 0 0 0 0 6.032 304596 chr11 59556401 59556401 C A rs151157690 STX3 Nonsynonymous SNV N90K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.117 304597 chr19 37316372 37316372 A G ZNF790-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.598 304598 chr19 37369179 37369179 G T rs138152300 ZNF345 Stop gain E483X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 304599 chr12 33030802 33030802 T C rs139851304 PKP2 Nonsynonymous SNV T338A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.012 304600 chr12 39703401 39703401 T C rs886049341 KIF21A Nonsynonymous SNV I1385V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.724 304601 chr12 102569415 102569415 C G PARPBP Nonsynonymous SNV L245V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.674 304602 chr20 15967719 15967719 T C rs62194199 MACROD2 Nonsynonymous SNV S122P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 10.43 304603 chr12 40757237 40757237 C T rs768811495 LRRK2 Synonymous SNV I2354I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.23 304604 chr19 38056928 38056928 G A ZNF571 Synonymous SNV T134T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.702 304605 chr21 44478297 44478297 C T rs147885808 CBS, CBSL Synonymous SNV P370P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.04 304606 chr12 48468178 48468178 T C rs775425005 SENP1 Nonsynonymous SNV H290R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 304607 chr11 61541592 61541592 C T rs143059056 MYRF Synonymous SNV L423L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.43 304608 chr1 65858501 65858501 G A rs139509177 DNAJC6 Nonsynonymous SNV R619H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 304609 chr19 39017675 39017675 C G RYR1 Nonsynonymous SNV L3552V 0 0 0.007 0 0 0 0 2 0 0 0 0 24 304610 chr12 49166197 49166197 C T rs140769009 ADCY6 Nonsynonymous SNV G890R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 304611 chr12 49397038 49397038 A G rs770659552 PRKAG1 Synonymous SNV D268D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.421 304612 chr12 111078304 111078304 C T rs145970332 TCTN1 Synonymous SNV C320C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.21 304613 chr12 111748458 111748458 G A rs753035044 CUX2 Synonymous SNV A562A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.439 304614 chr12 112184051 112184051 T C ACAD10 Nonsynonymous SNV L740P 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 304615 chr19 39915849 39915849 A G PLEKHG2 Nonsynonymous SNV N1359S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 304616 chr11 6231378 6231378 G A rs143672546 C11orf42 Nonsynonymous SNV R124H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.904 304617 chr12 113553461 113553461 G A rs35505918 RASAL1 Nonsynonymous SNV R328W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304618 chr19 40719930 40719932 GCG - MAP3K10 A782del 0 0 0.003 0 0 0 0 1 0 0 0 0 304619 chr12 118681296 118681296 A C TAOK3 Nonsynonymous SNV V73G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 304620 chr12 120741827 120741827 C T SIRT4 Nonsynonymous SNV R155W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 304621 chr1 8073399 8073399 G A rs373519813 ERRFI1 Synonymous SNV G420G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.316 304622 chr11 64217568 64217568 G A rs370971868 LINC02724 0 0 0.003 0 0 0 0 1 0 0 0 0 8.399 304623 chr12 52818488 52818488 C T rs750615479 KRT75 Nonsynonymous SNV G490E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 304624 chr19 42804135 42804135 C T rs141406696 PAFAH1B3 Nonsynonymous SNV R132Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 304625 chr11 65305640 65305640 G A SCYL1 Nonsynonymous SNV R728H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 304626 chr12 123968790 123968790 G C rs375068142 RILPL1 Nonsynonymous SNV P335R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 304627 chr11 118343671 118343671 T G KMT2A Synonymous SNV A599A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.875 304628 chr11 118890016 118890016 C T rs781865693 TRAPPC4 Nonsynonymous SNV P42L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.7 304629 chr12 126128809 126128809 C T rs554924533 TMEM132B Nonsynonymous SNV P49L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 304630 chr20 34241240 34241240 C T rs543347279 RBM12 Nonsynonymous SNV G669S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.012 304631 chr20 35309233 35309233 A G NDRG3 Nonsynonymous SNV W161R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 304632 chr19 44636220 44636303 AAATGTGAAGAATGTGGGAAAAGATTTACTCAGAATTCACAACTTTATACCCATCGTAGAGTCCACAGTGGAGAAAAACCATTC - ZNF225 T501_Y528del 0 0 0.003 0 0 0 0 1 0 0 0 0 304633 chr1 91182381 91182381 - GGCGGCGGCGGCGGCTGCTGTGGC BARHL2 Q127_L128insPPPPPPQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 304634 chr12 132402025 132402025 C T rs753689487 ULK1 Nonsynonymous SNV P751L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 304635 chr12 132466879 132466879 G A rs200420978 EP400 Synonymous SNV K595K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 304636 chr12 53722731 53722731 G A SP7 Synonymous SNV G165G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.505 304637 chr12 54767785 54767785 T C rs76519015 ZNF385A Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 304638 chr22 24583574 24583574 G A rs114116915 SUSD2 Nonsynonymous SNV D643N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 304639 chr12 56995154 56995154 A C BAZ2A Synonymous SNV S1368S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.377 304640 chr13 27259961 27259961 C T rs1042958932 WASF3 Synonymous SNV D493D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.03 304641 chr20 46292234 46292234 G A rs371128046 SULF2 Synonymous SNV H730H 0.003 0 0 0 3 0 0 0 0 0 0 0 11.22 304642 chr22 28378520 28378520 G A rs573932994 TTC28 Nonsynonymous SNV R2379W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 304643 chr12 58014074 58014074 T G SLC26A10 Nonsynonymous SNV L24W 0.001 0 0 0 1 0 0 0 0 0 0 0 7.502 304644 chr22 28392152 28392152 G A rs370957544 TTC28 Nonsynonymous SNV R1739W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304645 chr12 58014917 58014917 G C LOC101927583 0.001 0 0 0 1 0 0 0 0 0 0 0 5.123 304646 chr11 130079371 130079371 C T rs201796684 ST14 Synonymous SNV I768I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.61 304647 chr22 30416707 30416707 T C MTMR3 Nonsynonymous SNV M1020T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 304648 chr11 75439070 75439070 C T rs372942591 MOGAT2 Synonymous SNV G177G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 304649 chr22 30768264 30768264 C T rs762969694 CCDC157 Nonsynonymous SNV R442C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 304650 chr11 75511420 75511420 C T rs138423103 DGAT2 Nonsynonymous SNV P302L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 304651 chr13 42877375 42877377 ATA - rs775856983 AKAP11 N1499del 0.002 0 0 0 2 0 0 0 0 0 0 0 304652 chr11 8060469 8060469 G A rs144469939 TUB Nonsynonymous SNV E17K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.231 304653 chr11 82560162 82560162 C T PRCP Nonsynonymous SNV V179M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 304654 chr12 78400614 78400614 T C rs370063853 NAV3 Synonymous SNV S432S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.028 304655 chr13 46287911 46287911 C T rs143200378 CBY2 Nonsynonymous SNV R224W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 304656 chr12 6030443 6030443 G A rs370168207 ANO2 Synonymous SNV V99V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.83 304657 chr13 50123687 50123687 C T rs746826785 RCBTB1 Nonsynonymous SNV V318M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 304658 chr20 2796188 2796188 G A rs386352285 C20orf141 Nonsynonymous SNV A89T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.947 304659 chr20 30617613 30617613 C T rs201292997 CCM2L Synonymous SNV Y458Y 0 0 0 1 0 0 0.003 0 0 0 0 0 15.25 304660 chr11 92624171 92624171 C T FAT3 Synonymous SNV G4522G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 304661 chr12 96370398 96370398 C T rs770766724 HAL Nonsynonymous SNV D373N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 304662 chr12 96900803 96900803 A T rs548324011 CFAP54 Nonsynonymous SNV H222L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.524 304663 chr13 77836213 77836213 G A rs780130624 MYCBP2 Nonsynonymous SNV A541V 0.002 0 0 0 2 0 0 0 0 0 0 0 33 304664 chr12 102116960 102116960 G T CHPT1 Nonsynonymous SNV L265F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 304665 chr12 106460892 106460892 G A rs191928871 NUAK1 Synonymous SNV A558A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.788 304666 chr12 107393423 107393423 C T rs147813518 CRY1 Nonsynonymous SNV R348H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304667 chr20 36374922 36374922 G A rs775940164 CTNNBL1 Nonsynonymous SNV V127M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 304668 chr12 12510054 12510054 T C BORCS5 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.64 304669 chr13 109496699 109496699 T A rs562469629 MYO16 Nonsynonymous SNV L369Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 304670 chr19 53770747 53770747 G A rs145154362 VN1R4 Nonsynonymous SNV R58C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 304671 chr12 112167654 112167654 C T rs146335507 ACAD10 Stop gain R430X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 304672 chr12 110206195 110206195 T C FAM222A Nonsynonymous SNV L154P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 304673 chr22 50483807 50483807 G A rs201774397 TTLL8 Nonsynonymous SNV R210C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 304674 chr13 114079479 114079479 C T ADPRHL1 Stop gain W221X 0.002 0 0 0 2 0 0 0 0 0 0 0 46 304675 chr2 242256950 242256950 - T SEPTIN2 Frameshift insertion C43Lfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 304676 chr19 55607687 55607687 T G rs774731090 PPP1R12C Nonsynonymous SNV E323A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 304677 chr12 40761515 40761515 T C rs201312806 LRRK2 Nonsynonymous SNV I2511T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 304678 chr19 56392931 56392931 C A rs777582848 NLRP4 Nonsynonymous SNV T988K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 304679 chr12 124812064 124812064 C T rs370831410 NCOR2 Synonymous SNV P2348P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.47 304680 chr12 124827665 124827665 T C rs750734387 NCOR2 Nonsynonymous SNV I1598V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.523 304681 chr14 23354014 23354014 C T rs61752841 REM2 Nonsynonymous SNV R79W 0.003 0 0 0 3 0 0 0 0 0 0 0 34 304682 chr14 23389964 23389964 C T rs749808110 PRMT5-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 304683 chr19 57325877 57325877 G A rs117718960 PEG3 Synonymous SNV Y1156Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.83 304684 chr12 132504667 132504667 C T rs145797704 EP400 Nonsynonymous SNV R1451W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 304685 chr12 132636158 132636158 C T rs144664136 NOC4L Synonymous SNV C401C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.842 304686 chr21 45657025 45657025 C T rs542311532 ICOSLG, LOC102723996 Nonsynonymous SNV R44H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.72 304687 chr14 24600819 24600819 G A rs375038109 FITM1 Nonsynonymous SNV R16Q 0.002 0 0 0 2 0 0 0 0 0 0 0 15.96 304688 chr14 24760346 24760346 G A rs200636329 DHRS1 Synonymous SNV D268D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.168 304689 chr12 132837605 132837605 C T GALNT9 Synonymous SNV L230L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.656 304690 chr20 61513391 61513391 G C rs761047955 DIDO1 Nonsynonymous SNV S1306C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 304691 chr21 46330265 46330265 C G ITGB2 Nonsynonymous SNV K27N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.8 304692 chr21 46906837 46906837 C T rs772875983 COL18A1 Synonymous SNV P768P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 304693 chr12 14976520 14976520 T C C12orf60 Synonymous SNV A217A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.879 304694 chr19 58850179 58850179 G A rs139283341 ZSCAN22 Nonsynonymous SNV R316Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 304695 chr2 137988705 137988705 C T rs143921844 THSD7B Synonymous SNV S605S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 304696 chr19 58991935 58991935 G A rs371598340 ZNF446 Nonsynonymous SNV E399K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 304697 chr12 21713408 21713408 T - rs771205749 GYS2 T361Qfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 304698 chr20 62328798 62328798 T G rs748770729 TNFRSF6B Nonsynonymous SNV L181R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.25 304699 chr19 6306748 6306748 G A rs374057502 ACER1 Nonsynonymous SNV R258W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 304700 chr12 27824452 27824452 C G rs150528906 PPFIBP1 Nonsynonymous SNV P276R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 304701 chr19 685920 685920 G A rs754553103 PRSS57 Synonymous SNV A215A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.76 304702 chr13 29004277 29004277 C T rs370686484 FLT1 Nonsynonymous SNV R339Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 304703 chr14 47613415 47613415 A T MDGA2 Nonsynonymous SNV Y151N 0.002 0 0 0 2 0 0 0 0 0 0 0 18.34 304704 chr14 51223726 51223726 T A NIN Nonsynonymous SNV Q1341L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.041 304705 chr22 20229916 20229916 G A rs771381112 RTN4R Nonsynonymous SNV A247V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 304706 chr13 37269374 37269374 G A rs148367843 SERTM1 Synonymous SNV A53A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 304707 chr13 39266183 39266183 C T rs558845582 FREM2 Synonymous SNV L1568L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.943 304708 chr12 40714925 40714925 T C rs200008981 LRRK2 Nonsynonymous SNV M1702T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.2 304709 chr14 53145187 53145187 C T ERO1A Nonsynonymous SNV E108K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 304710 chr13 41134131 41134131 G A rs757047359 FOXO1 Synonymous SNV G499G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.357 304711 chr12 44171511 44171511 G A IRAK4 Nonsynonymous SNV M141I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 304712 chr12 45444480 45444480 A T rs779332087 DBX2 Synonymous SNV P77P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.087 304713 chr2 170093681 170093681 G T LRP2 Nonsynonymous SNV S1541R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.65 304714 chr2 177053726 177053726 C G rs758946357 HOXD1 Nonsynonymous SNV P66R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 304715 chr2 177054181 177054181 G C rs150112597 HOXD1 Nonsynonymous SNV G218R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.5 304716 chr2 179432085 179432085 T C rs368270588 TTN Synonymous SNV R17193R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.39 304717 chr2 179440182 179440182 A G rs72646890 TTN Synonymous SNV D14494D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.723 304718 chr22 38511681 38511681 C A PLA2G6 Synonymous SNV L575L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 304719 chr14 73678538 73678538 A G rs201776669 PSEN1 Synonymous SNV E339E 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.633 304720 chr22 36142531 36142539 AGCGGCTGC - rs749060025 RBFOX2 Q323_L325del 0.003 0 0 0 3 0 0 0 0 0 0 0 304721 chr21 44985236 44985236 C A H2BS1 Synonymous SNV S39S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.854 304722 chr13 99554673 99554673 C A DOCK9 Nonsynonymous SNV V418L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304723 chr2 182376440 182376440 G A rs202190898 ITGA4 Synonymous SNV R620R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.77 304724 chr2 183707220 183707220 T C rs145951169 FRZB Nonsynonymous SNV N193S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.7 304725 chr21 46066464 46066464 C G rs377177017 KRTAP10-11 Nonsynonymous SNV P30R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 304726 chr12 53454771 53454771 A G TNS2 Synonymous SNV P1037P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.206 304727 chr1 101377681 101377681 C T rs374579638 SLC30A7 Nonsynonymous SNV P133L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 304728 chr14 76966319 76966319 G A rs781376447 ESRRB Synonymous SNV P470P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.275 304729 chr2 197767326 197767326 T C PGAP1 Nonsynonymous SNV S264G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 304730 chr12 56345408 56345408 T G rs11834873 DGKA Synonymous SNV G122G 0 0 0.007 0 0 0 0 2 0 0 0 0 2.012 304731 chr1 111441807 111441807 T C rs149870771 CD53 Nonsynonymous SNV I158T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 20.7 304732 chr14 90432515 90432515 C T rs760365706 TDP1 Nonsynonymous SNV T195M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304733 chr22 43206882 43206882 T C rs61730560 ARFGAP3 Nonsynonymous SNV Y334C 0.003 0 0 0 4 0 0 0 0 0 0 0 18.96 304734 chr12 56817171 56817171 T G TIMELESS Nonsynonymous SNV K726Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 304735 chr12 110924516 110924518 AAG - rs776614006 FAM216A E206del 0 0 0 1 0 0 0.003 0 0 0 0 0 304736 chr12 113285597 113285597 G C rs147908377 RPH3A Nonsynonymous SNV R56S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 304737 chr2 202356806 202356806 A T C2CD6 Nonsynonymous SNV L1420I 0.003 0 0 0 3 0 0 0 0 0 0 0 3.612 304738 chr14 20836666 20836666 C T rs373903999 TEP1 Nonsynonymous SNV G2497D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 304739 chr12 57911246 57911246 G C rs28382852 DDIT3 Nonsynonymous SNV P5A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.325 304740 chr2 203500390 203500390 G A FAM117B Synonymous SNV L160L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 304741 chr22 45728524 45728524 C T rs201028436 FAM118A Synonymous SNV D216D 0.003 0 0 0 3 0 0 0 0 0 0 0 14.16 304742 chr14 96178685 96178685 C T rs895880547 TCL1A Nonsynonymous SNV V57I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 304743 chr1 118584427 118584427 G A rs761508221 SPAG17 Nonsynonymous SNV P1018L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 304744 chr13 21732265 21732265 - AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATG SKA3 0.001 0.003 0 0 1 1 0 0 0 0 0 0 304745 chr14 21883941 21883941 G C rs376100482 CHD8 Synonymous SNV L614L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.223 304746 chr2 211481222 211481222 C T rs148519116 CPS1 Nonsynonymous SNV R882C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 304747 chr14 104484438 104484438 A G TDRD9 Nonsynonymous SNV I781V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.516 304748 chr14 104641474 104641474 C T rs370792363 KIF26A Synonymous SNV S783S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 304749 chr12 123082407 123082407 G A KNTC1 Synonymous SNV L1495L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.34 304750 chr1 146634077 146634077 G A rs782423302 PRKAB2 Nonsynonymous SNV P205L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 304751 chr12 80714313 80714313 G A rs369089877 OTOGL Nonsynonymous SNV R1296Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 304752 chr2 219553529 219553529 G A rs150496187 STK36 Nonsynonymous SNV R497Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 304753 chr14 24675131 24675131 T C rs754691777 TSSK4 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 304754 chr14 24731463 24731463 - TCTGGC rs772760501 TGM1 P31_D32insEP 0.001 0 0 0 1 0 0 0 0 0 0 0 304755 chr14 24785740 24785740 T G rs758961667 LTB4R Nonsynonymous SNV S295A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.129 304756 chr12 95926877 95926877 G A USP44 Nonsynonymous SNV H386Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 304757 chr14 32142693 32142693 G A rs863224124 NUBPL Nonsynonymous SNV M46I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.4 304758 chr12 99106112 99106112 A G rs763464521 APAF1 Nonsynonymous SNV T899A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.8 304759 chr1 154960926 154960926 C G rs749521512 FLAD1 Nonsynonymous SNV P240A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.195 304760 chr14 38218592 38218592 A G rs139018646 TTC6 Nonsynonymous SNV N954D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.92 304761 chr13 101288986 101288986 G A rs775770328 TMTC4 Synonymous SNV A204A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 304762 chr22 43023385 43023385 C T rs139534909 CYB5R3 Synonymous SNV P186P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.18 304763 chr1 156221236 156221236 C G SMG5 Nonsynonymous SNV S876T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 304764 chr1 156539186 156539186 C T IQGAP3 Nonsynonymous SNV R36Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 304765 chr1 156639563 156639563 A T NES Nonsynonymous SNV L1473M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 304766 chr13 111121641 111121641 G C COL4A2 Nonsynonymous SNV A725P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.211 304767 chr13 113201894 113201894 - GCGTGGGAAAGACGT rs755355973 TUBGCP3 T402_R403insHVFPT 0 0 0.003 0 0 0 0 1 0 0 0 0 304768 chr13 113201906 113201906 A T rs201746539 TUBGCP3 Nonsynonymous SNV V399D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.373 304769 chr13 113201909 113201909 T C rs543578460 TUBGCP3 Nonsynonymous SNV H398R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.315 304770 chr15 42573239 42573239 C T GANC Nonsynonymous SNV P109L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.339 304771 chr15 43572001 43572001 G A rs547216589 TGM7 Synonymous SNV P500P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.552 304772 chr15 44089127 44089127 A G SERINC4 Nonsynonymous SNV S42P 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 304773 chr15 44158394 44158394 G C rs146664124 WDR76 Nonsynonymous SNV C498S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 304774 chr3 170204103 170204103 C T rs774948709 SLC7A14 Nonsynonymous SNV A272T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304775 chr1 16069338 16069338 G A rs145367240 TMEM82 Nonsynonymous SNV G33R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 304776 chr14 62234019 62234019 T A rs761979712 SNAPC1 Nonsynonymous SNV F126L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.93 304777 chr14 64165361 64165361 - ATAT SGPP1 Frameshift insertion G234Ifs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 304778 chr13 113510296 113510296 G A rs762938882 ATP11A Nonsynonymous SNV R772Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.87 304779 chr1 161198031 161198031 A G rs564568531 TOMM40L Synonymous SNV G115G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.69 304780 chr15 56735923 56735923 C T rs150446377 MNS1 Synonymous SNV E272E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.83 304781 chr1 162745587 162745587 C T rs751660319 DDR2 Nonsynonymous SNV R668C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 304782 chr2 24914421 24914421 C T NCOA1 Nonsynonymous SNV H202Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 304783 chr2 25040612 25040612 G A rs202228565 CENPO Synonymous SNV L274L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.662 304784 chr2 155295229 155295229 T C rs116616790 GALNT13 Synonymous SNV Y507Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.899 304785 chr13 58207484 58207484 C T PCDH17 Synonymous SNV T268T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.831 304786 chr13 60565362 60565362 T C rs746390263 DIAPH3 Nonsynonymous SNV T168A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27.2 304787 chr2 10894132 10894132 G A rs139030826 ATP6V1C2 Nonsynonymous SNV V75M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.67 304788 chr15 65447170 65447170 G A CLPX Nonsynonymous SNV P521S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 304789 chr1 171557608 171557608 A G PRRC2C Synonymous SNV R2719R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.843 304790 chr15 65993407 65993407 A G rs772264093 DENND4A Nonsynonymous SNV S895P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.5 304791 chr2 27700475 27700475 G A rs781225823 IFT172 Nonsynonymous SNV A391V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 304792 chr14 76525022 76525022 G A rs747640997 IFT43 Nonsynonymous SNV V85I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 304793 chr14 77275486 77275486 G A rs201177652 ANGEL1 Nonsynonymous SNV P189S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.936 304794 chr2 186654034 186654034 C T FSIP2 Nonsynonymous SNV P724L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 304795 chr2 39414828 39414828 T C rs747877278 CDKL4 Synonymous SNV Q225Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.296 304796 chr2 173368883 173368883 G A rs372761462 ITGA6 Nonsynonymous SNV R1060Q 0.003 0 0 0 3 0 0 0 0 0 0 0 26.1 304797 chr2 173885422 173885422 G A rs376935831 RAPGEF4 Synonymous SNV P524P 0.003 0 0.003 0 3 0 0 1 0 0 0 0 10.99 304798 chr2 43514082 43514082 G A THADA Nonsynonymous SNV T1710I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19 304799 chr14 91779739 91779739 C T rs982901283 CCDC88C Synonymous SNV R807R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 304800 chr14 91779956 91779956 C T rs114142372 CCDC88C Nonsynonymous SNV R735H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.55 304801 chr14 104643408 104643408 C T rs369615329 KIF26A Nonsynonymous SNV A1428V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.111 304802 chr14 93408042 93408042 G A rs751421795 ITPK1 Nonsynonymous SNV A251V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 304803 chr1 18618445 18618445 G A rs770942594 IGSF21 Nonsynonymous SNV R90H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 304804 chr1 186276790 186276790 G A rs765948419 PRG4 Nonsynonymous SNV E513K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.825 304805 chr1 186276794 186276794 T C rs202156063 PRG4 Nonsynonymous SNV L514P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.372 304806 chr14 105643336 105643336 G A rs142762135 NUDT14 Nonsynonymous SNV R52W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 304807 chr14 105643354 105643354 G T rs148004115 NUDT14 Nonsynonymous SNV L46I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 304808 chr1 200956019 200956019 C T rs763168792 KIF21B Synonymous SNV T1214T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.48 304809 chr2 180809958 180809958 G A rs373950892 CWC22 Synonymous SNV A875A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.896 304810 chr14 21462134 21462134 T C rs1009961656 METTL17 Synonymous SNV A203A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.961 304811 chr14 102792934 102792935 TT - ZNF839 Stop gain F185* 0.001 0 0 0 1 0 0 0 0 0 0 0 304812 chr2 168104802 168104802 T C rs757686310 XIRP2 Synonymous SNV S2078S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.693 304813 chr2 18767580 18767580 C G rs770834183 NT5C1B, NT5C1B-RDH14 Synonymous SNV R66R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.332 304814 chr2 176995421 176995421 C A rs369342903 HOXD8 Synonymous SNV P109P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 304815 chr1 207082861 207082861 T G rs567990785 FCMR Synonymous SNV T218T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.851 304816 chr1 207095192 207095192 A C rs114123219 FCMR Nonsynonymous SNV F3C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.9 304817 chr15 99901644 99901644 C T LRRC28 Nonsynonymous SNV H198Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.97 304818 chr14 45712012 45712012 T A MIS18BP1 Nonsynonymous SNV I204F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 304819 chr1 20981156 20981156 G A rs142593688 DDOST Nonsynonymous SNV T216M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.5 304820 chr1 211487014 211487014 C T rs139368264 RCOR3 Synonymous SNV P464P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.447 304821 chr15 40594512 40594512 C T rs575392067 PLCB2 Synonymous SNV P137P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.56 304822 chr16 707762 707762 C G WDR90 Nonsynonymous SNV A825G 0.002 0 0 0 2 0 0 0 0 0 0 0 3.022 304823 chr15 40702998 40702998 T C rs398123683 IVD 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 23.6 304824 chr15 40756098 40756098 G A rs199640484 BAHD1 Synonymous SNV A617A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 304825 chr16 1255206 1255206 C A rs28365123 CACNA1H Synonymous SNV G848G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.38 304826 chr14 58943926 58943926 A G KIAA0586 Nonsynonymous SNV S831G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 304827 chr14 64610596 64610596 C T rs145018323 SYNE2 Nonsynonymous SNV T5138M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 304828 chr15 42152855 42152855 G A rs777660602 SPTBN5 Synonymous SNV A2639A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.229 304829 chr14 68022552 68022552 - GGAGCAGAGGCTGCTGGAGGC PLEKHH1 R56_A57insLLEAEQR 0 0 0.003 0 0 0 0 1 0 0 0 0 304830 chr3 121518221 121518221 A G rs80015876 IQCB1 Synonymous SNV S196S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.784 304831 chr15 43622501 43622501 C T rs755121894 LCMT2 Nonsynonymous SNV V63M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 304832 chr16 2121617 2121617 T C rs45490792 TSC2 Nonsynonymous SNV M449T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.006 304833 chr14 73406553 73406553 G A rs759510779 DCAF4 Nonsynonymous SNV G46S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 304834 chr2 238725837 238725837 C G rs777310870 RBM44 Nonsynonymous SNV T93S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.834 304835 chr2 238726227 238726227 C T rs765430659 RBM44 Nonsynonymous SNV S223L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.784 304836 chr14 81610150 81610150 T C TSHR Nonsynonymous SNV I583T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 304837 chr1 231557264 231557264 G A rs972861708 EGLN1 Nonsynonymous SNV A124V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 304838 chr14 86088159 86088159 G T FLRT2 Nonsynonymous SNV D101Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 304839 chr3 126724067 126724067 G A rs184131664 PLXNA1 Synonymous SNV A626A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.1 304840 chr14 91927831 91927831 G A PPP4R3A Nonsynonymous SNV T523I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 304841 chr1 235594042 235594042 T C TBCE Nonsynonymous SNV S82P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.959 304842 chr14 74203975 74203975 C T rs201977850 ELMSAN1 Nonsynonymous SNV R492Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 304843 chr15 57913812 57913812 G A rs778569189 GCOM1, MYZAP Nonsynonymous SNV A109T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 304844 chr1 241935000 241935000 G A WDR64 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 304845 chr2 27460682 27460682 G A CAD Nonsynonymous SNV G1491R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304846 chr2 232262967 232262967 G A rs368456431 B3GNT7 Synonymous SNV T179T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.01 304847 chr14 96783572 96783572 T - rs775015908 ATG2B K1040Nfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 304848 chr2 232325472 232325474 TCT - rs777095928 NCL E240del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 304849 chr3 138219066 138219066 T C rs144294583 CEP70 Nonsynonymous SNV D361G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 304850 chr2 31155020 31155020 C T rs143757721 GALNT14 Synonymous SNV E324E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.21 304851 chr15 66838946 66838946 C G rs149217755 ZWILCH Nonsynonymous SNV L455V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 304852 chr15 24921145 24921145 C T rs533546695 NPAP1 Nonsynonymous SNV P44L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 304853 chr2 237489607 237489607 C T rs993405550 ACKR3 Synonymous SNV L167L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 304854 chr15 74467711 74467711 C T rs367850327 ISLR Nonsynonymous SNV A171V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 304855 chr1 249211646 249211646 A T PGBD2 Nonsynonymous SNV K37M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 304856 chr15 40212084 40212084 C T rs143700851 GPR176 Synonymous SNV Q48Q 0 0 0.007 0 0 0 0 2 0 0 0 0 13.5 304857 chr16 31159825 31159825 G T PRSS36 Synonymous SNV P148P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.06 304858 chr2 242035427 242035427 C T rs368982953 MTERF4 Nonsynonymous SNV D190N 0.003 0 0 0 3 0 0 0 0 0 0 0 13.05 304859 chr16 46958403 46958403 A G GPT2 Nonsynonymous SNV M339V 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 304860 chr15 41056411 41056411 C T GCHFR Synonymous SNV R11R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 304861 chr1 28601525 28601525 A C SESN2 Synonymous SNV R404R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 304862 chr15 83936930 83936930 T A BNC1 Nonsynonymous SNV N45Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 304863 chr14 104202373 104202373 G T rs750675019 PPP1R13B Nonsynonymous SNV D1066E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.27 304864 chr3 170108082 170108082 A G rs145870482 SKIL Nonsynonymous SNV I455V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 304865 chr16 56875746 56875746 G C rs144608323 NUP93 0.002 0 0 0 2 0 0 0 0 0 0 0 27 304866 chr2 238484040 238484040 G C RAB17 Nonsynonymous SNV F173L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 304867 chr14 104624186 104624186 G A rs200160417 KIF26A Nonsynonymous SNV R277H 0 0 0 1 0 0 0.003 0 0 0 0 0 13.17 304868 chr15 43010678 43010678 G A rs762731905 STARD9 Nonsynonymous SNV R4603Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 304869 chr15 43571969 43571969 C T rs776705863 TGM7 Nonsynonymous SNV R511H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 304870 chr2 239147618 239147618 - G HES6 Frameshift insertion P175Sfs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 304871 chr3 180327445 180327445 T A rs536653340 TTC14 Synonymous SNV T476T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.196 304872 chr3 180327446 180327446 T A rs546966606 TTC14 Nonsynonymous SNV S477T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 304873 chr2 27803592 27803592 T C rs754696328 C2orf16 Nonsynonymous SNV W1385R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.034 304874 chr16 66426201 66426201 C T rs748847072 CDH5 Nonsynonymous SNV H378Y 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 304875 chr3 184953234 184953234 G A EHHADH Synonymous SNV G65G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.907 304876 chr16 70508758 70508758 C T rs562205568 FCSK Stop gain R741X 0.002 0 0 0 2 0 0 0 0 0 0 0 39 304877 chr15 53907717 53907717 G A rs557128345 WDR72 Stop gain R896X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 36 304878 chr2 37374101 37374101 A G rs141047420 EIF2AK2 Synonymous SNV V45V 0.003 0 0 0 3 0 0 0 0 0 0 0 2 304879 chr15 59323455 59323455 T A rs777583732 RNF111 Nonsynonymous SNV L145Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 304880 chr2 27303044 27303044 C T rs764158975 EMILIN1 Nonsynonymous SNV R66W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 304881 chr15 65682635 65682635 C T rs185266355 IGDCC4 Nonsynonymous SNV V756I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 304882 chr2 48026605 48026605 C A MSH6 Synonymous SNV R365R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.68 304883 chr15 66786800 66786800 C T SNAPC5 Nonsynonymous SNV E61K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 304884 chr1 52879593 52879593 C A PRPF38A Synonymous SNV R218R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 304885 chr1 53370462 53370462 C T rs376747011 ECHDC2 Synonymous SNV A155A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 304886 chr15 69706909 69706909 C A rs533230898 LOC145694 0 0 0.003 0 0 0 0 1 0 0 0 0 7.873 304887 chr3 27478039 27478039 T C SLC4A7 Synonymous SNV R139R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 304888 chr2 63401852 63401852 G T rs753121252 WDPCP Synonymous SNV T518T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.875 304889 chr16 1551453 1551453 G A TELO2 Synonymous SNV L438L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.438 304890 chr15 79215454 79215454 G C rs771499004 CTSH Synonymous SNV S271S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.457 304891 chr16 1825115 1825115 G A rs757361579 EME2 Nonsynonymous SNV G184E 0.001 0 0 0 1 0 0 0 0 0 0 0 22 304892 chr15 83428280 83428280 G C rs759772436 FSD2 Synonymous SNV G645G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.222 304893 chr15 83932037 83932037 G A rs141216491 BNC1 Nonsynonymous SNV H649Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.419 304894 chr3 39174682 39174682 C T rs772777747 TTC21A Nonsynonymous SNV A860V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 304895 chr15 85486734 85486734 T C rs749733181 SLC28A1 Nonsynonymous SNV I381T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 304896 chr16 88800805 88800805 G A rs36067616 PIEZO1 Synonymous SNV H713H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.832 304897 chr16 3021307 3021307 C T rs759644391 PAQR4 Stop gain Q67X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 304898 chr3 42734587 42734587 G C rs150455507 HHATL Nonsynonymous SNV R458G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 304899 chr2 63283274 63283274 T C OTX1 Synonymous SNV H296H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.499 304900 chr15 81625102 81625102 G A rs755806074 TMC3 Synonymous SNV H987H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.782 304901 chr1 84791340 84791340 C T rs377502974 SAMD13 Nonsynonymous SNV P39L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 304902 chr16 3713426 3713426 - G rs747370614 TRAP1 Frameshift insertion A517Sfs*115 0.001 0 0 0 1 0 0 0 0 0 0 0 304903 chr16 3900535 3900535 G A CREBBP Synonymous SNV G187G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.553 304904 chr1 86900285 86900285 G T CLCA2 Nonsynonymous SNV D277Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 304905 chr17 1552723 1552723 A C rs752190604 RILP Nonsynonymous SNV L102R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 304906 chr2 73800227 73800227 G A rs28730859 ALMS1 Synonymous SNV E3740E 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.905 304907 chr16 10031860 10031860 G A rs368200727 GRIN2A Synonymous SNV Y321Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.096 304908 chr17 2601449 2601449 T G CLUH Nonsynonymous SNV I568L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 304909 chr17 3119108 3119108 A G rs186831908 OR1A1 Nonsynonymous SNV N65S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.73 304910 chr16 1270475 1270475 G A rs117964326 CACNA1H Synonymous SNV A2175A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 3.454 304911 chr2 9419454 9419454 C T rs35357758 ASAP2 Synonymous SNV D45D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.075 304912 chr3 112991422 112991422 G A rs747971884 BOC Nonsynonymous SNV R278H 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 304913 chr2 9496449 9496449 C T rs34052263 ASAP2 Synonymous SNV D434D 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 11.54 304914 chr15 79103546 79103546 C A ADAMTS7 Nonsynonymous SNV S6I 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 304915 chr16 20797461 20797463 CTC - ACSM3 P403del 0.001 0 0 0 1 0 0 0 0 0 0 0 304916 chr1 99730017 99730017 T A rs749073248 PLPPR4 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 304917 chr4 78873657 78873657 C T MRPL1 Nonsynonymous SNV R292C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 304918 chr16 2002995 2002995 G A rs768832551 RPL3L Nonsynonymous SNV P82L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 304919 chr16 2013053 2013053 C T rs749933628 SNORA64 0 0 0.003 0 0 0 0 1 0 0 0 0 7.44 304920 chr16 20360119 20360119 G A rs369454700 UMOD Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.133 304921 chr16 20396159 20396159 T C rs146719463 PDILT Nonsynonymous SNV K73E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.411 304922 chr16 24806037 24806037 G A rs762543670 TNRC6A Synonymous SNV S1175S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 304923 chr17 6528145 6528145 C T rs919816098 KIAA0753 Nonsynonymous SNV R252H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 304924 chr16 29857182 29857182 A G MVP 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 304925 chr20 21377799 21377804 GCCGCG - NKX2-4 A90_A91del 0 0 0.003 0 0 0 0 1 0 0 0 0 304926 chr16 31234186 31234186 G A rs151006683 TRIM72 Nonsynonymous SNV R260H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 304927 chr16 31235778 31235778 G C rs770390611 TRIM72 Nonsynonymous SNV G379A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 304928 chr16 29996984 29996984 C T rs746642885 TAOK2 Synonymous SNV L598L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 304929 chr16 48596111 48596111 G C N4BP1 Nonsynonymous SNV P148R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 304930 chr3 8672602 8672602 A G rs781484298 SSUH2 Synonymous SNV D138D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.316 304931 chr16 3109010 3109010 T C MMP25 Nonsynonymous SNV C534R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 304932 chr17 8398517 8398517 T C MYH10 Nonsynonymous SNV K1301E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 304933 chr5 10649854 10649854 G A rs114562258 ANKRD33B Nonsynonymous SNV G372R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.67 304934 chr20 3306886 3306886 C A C20orf194 Nonsynonymous SNV L382F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 304935 chr3 122631762 122631762 G A rs149881973 SEMA5B Nonsynonymous SNV P827S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 304936 chr20 34189911 34189911 C T rs557092705 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 304937 chr16 65016087 65016087 A T rs35213 CDH11 Nonsynonymous SNV S247T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.084 304938 chr3 132389124 132389124 A T UBA5 Nonsynonymous SNV I74L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.2 304939 chr20 34782227 34782227 G A rs371544808 EPB41L1 Nonsynonymous SNV R403Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 304940 chr16 67229808 67229808 - CAG E2F4 S319_N320insS 0.001 0 0 0 1 0 0 0 0 0 0 0 304941 chr4 103585843 103585843 G C MANBA Nonsynonymous SNV A495G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.001 304942 chr4 104579541 104579541 G C rs202139429 TACR3 Nonsynonymous SNV P190A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 304943 chr16 4941812 4941812 C T rs199762487 PPL Synonymous SNV A656A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 304944 chr4 110384077 110384077 C G rs528807661 SEC24B Nonsynonymous SNV Q52E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 304945 chr20 39729852 39729852 T C TOP1 Synonymous SNV D389D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 304946 chr20 39793696 39793696 C T rs764018678 PLCG1 Synonymous SNV D447D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 304947 chr20 39802564 39802564 A T rs150557116 PLCG1 Synonymous SNV G1186G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.642 304948 chr4 110618922 110618923 TC - rs751651515 CASP6 E29Nfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 304949 chr3 139894793 139894793 T A CLSTN2 Nonsynonymous SNV V37D 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 304950 chr16 57054826 57054826 A T NLRC5 Nonsynonymous SNV T68S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.18 304951 chr20 44452712 44452712 G A TNNC2 Synonymous SNV S123S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 304952 chr3 132211381 132211381 T C rs768500157 DNAJC13 Synonymous SNV N1249N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.729 304953 chr16 67199911 67199911 C T HSF4 Synonymous SNV G141G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 304954 chr16 67692640 67692640 G A rs139256582 ACD Nonsynonymous SNV P242L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.27 304955 chr20 49225257 49225257 G A rs567479170 RIPOR3 Nonsynonymous SNV R235C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 304956 chr20 51870593 51870593 G A rs139565246 TSHZ2 Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 304957 chr20 55048417 55048417 T C rs150124912 RTF2 Synonymous SNV L44L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.925 304958 chr4 139106315 139106315 A G rs144628608 SLC7A11 Nonsynonymous SNV I292T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 304959 chr4 141888794 141888794 C T rs763465105 RNF150 Nonsynonymous SNV A240T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 304960 chr16 2115573 2115573 C T rs202171361 TSC2 Synonymous SNV A351A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 13.66 304961 chr16 74501678 74501678 G A rs140610600 GLG1 Synonymous SNV S824S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 304962 chr20 58475306 58475306 C T rs768778759 SYCP2 Nonsynonymous SNV G431R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.444 304963 chr16 3169418 3169418 C A rs774175803 ZNF205 Nonsynonymous SNV Q253K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.052 304964 chr16 87637893 87637893 - CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG JPH3 A157_V158insAAAAAAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 304965 chr3 151154781 151154781 A G rs114975613 IGSF10 Nonsynonymous SNV I550T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.5 304966 chr16 27720202 27720202 G A rs149790544 KIAA0556 Synonymous SNV T522T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.416 304967 chr20 60897453 60897453 C T rs200678763 LAMA5 Nonsynonymous SNV G2073E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 304968 chr3 179131551 179131551 C T GNB4 Nonsynonymous SNV R150H 0.002 0 0 0 2 0 0 0 0 0 0 0 33 304969 chr3 180669148 180669148 C T FXR1 Synonymous SNV G231G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.01 304970 chr16 28992890 28992890 C T rs371104755 SPNS1 Synonymous SNV L233L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 304971 chr16 88783098 88783098 G T rs758976094 PIEZO1 Synonymous SNV I2265I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 304972 chr16 29870763 29870763 C T CDIPT Nonsynonymous SNV V121I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 304973 chr3 183756571 183756571 A G rs199992123 HTR3D Synonymous SNV P216P 0.003 0 0 0 4 0 0 0 0 0 0 0 0.025 304974 chr20 61432075 61432075 T C rs6062691 OGFR-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.538 304975 chr16 30365514 30365514 C T rs368576078 CD2BP2 Nonsynonymous SNV D70N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 304976 chr17 38711669 38711669 G T rs2002724 CCR7 Synonymous SNV R91R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 2.371 304977 chr16 8722947 8722947 C T rs763287711 METTL22 Nonsynonymous SNV P165L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.964 304978 chr16 88878014 88878014 C A rs540432661 APRT Nonsynonymous SNV G44V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 304979 chr16 30990953 30990953 A G rs199743312 SETD1A Synonymous SNV T1282T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 304980 chr3 184616429 184616429 T C VPS8 Nonsynonymous SNV I681T 0.003 0 0 0 3 0 0 0 0 0 0 0 16.19 304981 chr16 89294325 89294325 T C ZNF778 Synonymous SNV N515N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.368 304982 chr16 89347720 89347720 G C rs770511968 ANKRD11 Nonsynonymous SNV H1744D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.73 304983 chr16 85143976 85143976 G T FAM92B Synonymous SNV R37R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.499 304984 chr20 62648162 62648162 A G rs745378731 PRPF6 Synonymous SNV E537E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.943 304985 chr16 87446712 87446712 C A rs750844898 ZCCHC14 Nonsynonymous SNV G428W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 304986 chr20 62839435 62839435 G A rs143133195 MYT1 Nonsynonymous SNV E296K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.421 304987 chr17 1410331 1410331 C T rs200171094 INPP5K Nonsynonymous SNV R240H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 304988 chr3 4687346 4687346 C T rs369681244 ITPR1 Synonymous SNV F263F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 10.08 304989 chr16 20994214 20994214 G A rs199823768 DNAH3 Nonsynonymous SNV S2563L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.2 304990 chr3 196050944 196050944 T C rs761858246 TM4SF19-AS1 0.003 0 0 0 4 0 0 0 0 0 0 0 0.04 304991 chr3 196736547 196736547 G A rs146339339 MELTF Synonymous SNV P489P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 304992 chr17 3336612 3336612 A C rs372261021 OR1E2 Nonsynonymous SNV L175W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 304993 chr3 186961345 186961345 G A rs183144579 MASP1 Synonymous SNV N385N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.01 304994 chr21 35107460 35107460 C G rs138677260 ITSN1 Synonymous SNV P99P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 304995 chr16 9943690 9943690 G A rs139329447 GRIN2A Synonymous SNV V417V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.88 304996 chr3 27420820 27420820 T A rs542780305 SLC4A7 Synonymous SNV S1078S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 304997 chr21 37618453 37618453 C T DOP1B Nonsynonymous SNV S1392L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 304998 chr17 42164885 42164885 G A rs228757 HDAC5 Synonymous SNV D594D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.488 304999 chr17 11894380 11894380 T G rs894965154 ZNF18 Nonsynonymous SNV Q163P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.116 305000 chr3 36875125 36875125 G A rs377450192 TRANK1 Synonymous SNV A1939A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.679 305001 chr21 43342110 43342110 C T rs761112460 C2CD2 Nonsynonymous SNV D155N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 305002 chr17 1640760 1640760 C T rs760895795 WDR81 Synonymous SNV S666S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.05 305003 chr17 46675234 46675234 G A rs35227248 HOXB6 Synonymous SNV A93A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.89 305004 chr17 46675450 46675450 G T rs145027311 HOXB6 Nonsynonymous SNV F21L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 305005 chr17 17699228 17699228 A T rs762596233 RAI1 Nonsynonymous SNV K989I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 305006 chr17 48270160 48270160 C T rs149561221 COL1A1 Nonsynonymous SNV A625T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23.3 305007 chr3 32574516 32574516 T C DYNC1LI1 Nonsynonymous SNV N232D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 305008 chr17 48434513 48434513 C T rs149423854 XYLT2 Nonsynonymous SNV A614V 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 305009 chr17 18077137 18077137 C T rs201028204 MYO15A Nonsynonymous SNV R3465W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 305010 chr21 45945542 45945542 G A rs782352724 TSPEAR Nonsynonymous SNV R444W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 305011 chr17 18226223 18226223 A G SMCR8 Nonsynonymous SNV M885V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 305012 chr17 7129360 7129360 G A rs147610025 DVL2 Nonsynonymous SNV P679S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 305013 chr17 19641682 19641682 A G ALDH3A1 Nonsynonymous SNV M434T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 305014 chr17 7147887 7147887 T A rs151138336 CTDNEP1 Synonymous SNV P219P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 305015 chr21 46876759 46876759 G T rs576722048 COL18A1 Stop gain E439X 0 0 0.003 0 0 0 0 1 0 0 0 0 9.966 305016 chr17 7330454 7330454 C T rs199635146 SPEM2 Nonsynonymous SNV R382W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 305017 chr17 7406480 7406480 A G POLR2A Nonsynonymous SNV T933A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 305018 chr16 67201726 67201726 - C rs776129797 HSF4, HSF4 Frameshift insertion P323Afs*29 0 0 0 2 0 0 0.005 0 0 0 0 0 305019 chr16 67316703 67316703 C T rs139750686 PLEKHG4 Nonsynonymous SNV S403L 0 0 0 2 0 0 0.005 0 0 0 0 0 24.6 305020 chr16 69681393 69681393 A T NFAT5 Nonsynonymous SNV N221I 0 0 0 1 0 0 0.003 0 0 0 0 0 24 305021 chr17 59485610 59485610 G T TBX2 Nonsynonymous SNV V628F 0.001 0 0 0 1 0 0 0 0 0 0 0 28 305022 chr22 19710916 19710916 C T rs548501807 SEPT5-GP1BB 0 0 0.003 0 0 0 0 1 0 0 0 0 9.633 305023 chr17 8647397 8647399 CTT - CCDC42 K63del 0.001 0 0 0 1 0 0 0 0 0 0 0 305024 chr17 3020022 3020022 G A rs146586555 OR1E3 Nonsynonymous SNV M43I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.623 305025 chr22 24628884 24628884 G A rs573845360 GGT5 Nonsynonymous SNV A136V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 305026 chr17 67102219 67102219 T A rs201335970 ABCA6 Synonymous SNV A841A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.619 305027 chr16 82203757 82203757 C G MPHOSPH6 Nonsynonymous SNV R8S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.9 305028 chr16 83781756 83781756 C G rs767405219 CDH13 Nonsynonymous SNV P489A 0 0 0 2 0 0 0.005 0 0 0 0 0 25.2 305029 chr17 72308275 72308275 C T rs770547622 DNAI2 Nonsynonymous SNV A531V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.75 305030 chr22 30771353 30771353 G A rs571642646 KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 1.903 305031 chr17 19480840 19480840 G C rs755041255 SLC47A1 Nonsynonymous SNV V563L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 305032 chr17 37565792 37565794 ATC - rs772592529 MED1 D894del 0 0 0.003 0 0 0 0 1 0 0 0 0 305033 chr4 76878838 76878838 G A rs780409009 SDAD1 Synonymous SNV P497P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.602 305034 chr17 72929535 72929535 C T rs200097991 OTOP2 Synonymous SNV Y528Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 305035 chr22 32014320 32014320 G A rs759386275 SFI1 Synonymous SNV L1160L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.924 305036 chr22 32330266 32330266 C G C22orf24 Synonymous SNV L174L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.363 305037 chr17 73235918 73235918 G A rs759796114 GGA3 Nonsynonymous SNV A390V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.396 305038 chr4 7783184 7783184 G A rs147973808 AFAP1 Synonymous SNV N567N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.45 305039 chr17 73499508 73499508 G T rs372647842 CASKIN2 Nonsynonymous SNV T512N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 305040 chr3 58121776 58121776 T A FLNB Nonsynonymous SNV I1581N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 305041 chr22 35734736 35734736 C T rs199955093 TOM1 Synonymous SNV D348D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 305042 chr17 27244430 27244430 T C rs755348508 PHF12 Nonsynonymous SNV Q336R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 305043 chr17 74465898 74465898 C T rs745917967 AANAT Nonsynonymous SNV A157V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.227 305044 chr4 87746612 87746612 C T rs144273089 SLC10A6 Nonsynonymous SNV G294R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 305045 chr22 41623137 41623137 C T rs758631305 L3MBTL2 Synonymous SNV A544A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.15 305046 chr17 76122366 76122366 - G TMC6 Frameshift insertion R88Pfs*87 0.002 0 0 0 2 0 0 0 0 0 0 0 305047 chr3 9956203 9956203 C T IL17RE Synonymous SNV L447L 0.003 0 0 0 3 0 0 0 0 0 0 0 6.887 305048 chr3 9974784 9974784 A C IL17RC Nonsynonymous SNV Q504P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 305049 chr16 89619437 89619437 C T rs746099594 SPG7 Synonymous SNV L610L 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.47 305050 chr17 34199457 34199457 C A rs200852773 CCL5 Nonsynonymous SNV R67L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 305051 chr3 58183635 58183635 C T rs766863381 DNASE1L3 Nonsynonymous SNV R176H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 305052 chr22 44287176 44287176 T C PNPLA5 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 305053 chr3 63813278 63813278 G A rs765108791 C3orf49 Synonymous SNV A149A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.156 305054 chr22 45130947 45130947 G A rs201559839 PRR5 Nonsynonymous SNV R104H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 305055 chr17 37872045 37872045 C T rs200497646 ERBB2 Nonsynonymous SNV R456C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 305056 chr22 45258332 45258332 C G rs756233338 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV P387A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 305057 chr3 69111236 69111236 G T rs749341901 UBA3 Nonsynonymous SNV P222H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 305058 chr5 1085486 1085486 C T rs367582213 SLC12A7 Nonsynonymous SNV V260M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 305059 chr4 108575867 108575867 T C PAPSS1 Nonsynonymous SNV N362S 0.002 0 0 0 2 0 0 0 0 0 0 0 5.801 305060 chr17 4623871 4623871 G A rs199767189 ARRB2 Nonsynonymous SNV V355I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.331 305061 chr17 48193401 48193401 C T rs369388427 SAMD14 Nonsynonymous SNV D185N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 305062 chr17 53851133 53851133 A T rs201706902 PCTP Nonsynonymous SNV I58F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 305063 chr4 104079939 104079939 C T rs141000785 CENPE Synonymous SNV T877T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.6 305064 chr4 10447626 10447626 A C ZNF518B Nonsynonymous SNV H109Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 305065 chr6 116574962 116574962 G A TSPYL4 Synonymous SNV G70G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.378 305066 chr18 2784597 2784597 T C SMCHD1 Synonymous SNV C1899C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.222 305067 chr4 108817141 108817141 C T SGMS2 Synonymous SNV T144T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.28 305068 chr17 56693577 56693577 G A rs752740277 TEX14 Synonymous SNV P248P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 305069 chr17 59489391 59489391 C G rs144355035 C17orf82 0 0 0.007 0 0 0 0 2 0 0 0 0 12.73 305070 chr18 9255383 9255383 T C rs868015245 ANKRD12 Synonymous SNV T683T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.083 305071 chr2 118578756 118578756 G A rs570976573 DDX18 Synonymous SNV S178S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.753 305072 chr18 12814259 12814259 G A PTPN2 Synonymous SNV F238F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 305073 chr4 160268043 160268043 A G RAPGEF2 Nonsynonymous SNV Q1041R 0.002 0 0 0 2 0 0 0 0 0 0 0 18.8 305074 chr2 136598443 136598443 A G rs55660827 MCM6 Nonsynonymous SNV Y810H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 305075 chr4 164393673 164393673 C T rs115895686 TKTL2 Nonsynonymous SNV R405Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 305076 chr2 153575390 153575390 - GAT rs751015196 ARL6IP6 D85_K86insD 0 0 0.003 0 0 0 0 1 0 0 0 0 305077 chr17 57109389 57109389 C A TRIM37 Nonsynonymous SNV A452S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 305078 chr4 155242152 155242152 G A DCHS2 Nonsynonymous SNV L1467F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 305079 chr2 166245471 166245471 T C rs199698414 SCN2A Synonymous SNV L1719L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.043 305080 chr2 170101278 170101278 G T rs183570870 LRP2 Nonsynonymous SNV H1119N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 305081 chr17 65051334 65051334 G A rs151308706 CACNG1 Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.755 305082 chr5 150945625 150945625 G A rs374807522 FAT2 Synonymous SNV P956P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.404 305083 chr17 19699575 19699575 G A rs145534168 ULK2 Synonymous SNV I610I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 12.54 305084 chr17 74625362 74625362 G A rs752533596 ST6GALNAC1 Nonsynonymous SNV A188V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.93 305085 chr2 179430412 179430412 A G TTN Nonsynonymous SNV V17751A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 305086 chr17 72209802 72209802 C T TTYH2 Nonsynonymous SNV R26C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 305087 chr17 72588624 72588624 G A rs145962818 C17orf77 Nonsynonymous SNV V147M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 305088 chr4 37445210 37445210 C T rs376203240 NWD2 Nonsynonymous SNV H534Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 305089 chr17 27239648 27239648 T C PHF12 Synonymous SNV Q647Q 0 0.005 0 2 0 2 0.005 0 0 1 0 0 0.35 305090 chr17 33738940 33738940 G A rs76139213 SLFN12 Nonsynonymous SNV S385L 0 0 0 2 0 0 0.005 0 0 0 0 0 3.839 305091 chr17 33771784 33771784 C G rs78359177 SLFN13 Nonsynonymous SNV E306Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.026 305092 chr17 33772552 33772552 C T rs7216628 SLFN13 Nonsynonymous SNV A50T 0 0 0 2 0 0 0.005 0 0 0 0 0 19.47 305093 chr17 33807030 33807030 A T rs142712023 SLFN12L Nonsynonymous SNV C67S 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 6.499 305094 chr4 2252955 2252955 G A rs780101684 MXD4 Nonsynonymous SNV R110C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 305095 chr4 48148409 48148409 G A rs77959214 TEC Synonymous SNV V338V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.384 305096 chr17 34853489 34853489 C T rs149202022 ZNHIT3 Nonsynonymous SNV A109V 0 0 0 2 0 0 0.005 0 0 0 0 0 3.184 305097 chr19 757869 757869 G A MISP Nonsynonymous SNV R308Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 305098 chr4 52926589 52926589 A G rs767294350 SPATA18 Nonsynonymous SNV N31S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 305099 chr17 76430251 76430251 G A rs761965870 DNAH17 Synonymous SNV F4028F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 305100 chr4 3076615 3076615 - CAGCAGCAGCAGCAG HTT Q38_P39insQQQQQ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 305101 chr17 76794546 76794546 C T rs1027379422 USP36 Nonsynonymous SNV V1110M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 305102 chr17 76832232 76832232 G A rs550067651 USP36 Nonsynonymous SNV R72C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.62 305103 chr17 8272765 8272765 C T rs140909751 KRBA2 Nonsynonymous SNV R307Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.613 305104 chr18 19079829 19079829 A G GREB1L Synonymous SNV G1177G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.141 305105 chr4 4304209 4304209 C T ZBTB49 Nonsynonymous SNV L216F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 305106 chr2 217543782 217543782 C T IGFBP5 Nonsynonymous SNV E120K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 305107 chr17 41102701 41102701 C T rs748881742 AARSD1, PTGES3L-AARSD1 Nonsynonymous SNV R383H 0 0 0 2 0 0 0.005 0 0 0 0 0 35 305108 chr18 13681832 13681832 C T rs116967198 FAM210A Nonsynonymous SNV R82H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.519 305109 chr17 46937737 46937737 C G CALCOCO2 Nonsynonymous SNV P315R 0 0 0 2 0 0 0.005 0 0 0 0 0 15.5 305110 chr2 231338156 231338156 G A rs150147150 SP100 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 305111 chr5 74685469 74685469 T A CERT1 Nonsynonymous SNV D385V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 305112 chr18 7037735 7037735 C T rs748714561 LAMA1 Nonsynonymous SNV G527R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 305113 chr18 76903849 76903849 A G ATP9B Nonsynonymous SNV I239V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 305114 chr5 79027438 79027438 A G CMYA5 Synonymous SNV A950A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.253 305115 chr18 9254909 9254909 T C ANKRD12 Synonymous SNV C525C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 305116 chr19 9050111 9050111 G T rs11670461 MUC16 Nonsynonymous SNV T10507N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.552 305117 chr17 73658778 73658778 T A rs199735809 RECQL5 Synonymous SNV G184G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 305118 chr18 56203260 56203260 C T rs762303089 ALPK2 Nonsynonymous SNV A1387T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.27 305119 chr5 1038272 1038272 C T rs765500400 NKD2 Synonymous SNV Y380Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.524 305120 chr19 10692544 10692544 T G AP1M2 Nonsynonymous SNV E93A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 305121 chr19 11350376 11350376 G A rs372882086 ANGPTL8 Synonymous SNV A21A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.445 305122 chr19 9204013 9204013 C - OR1M1 F32Sfs*20 0.002 0 0 0 2 0 0 0 0 0 0 0 305123 chr2 27290376 27290376 G A rs374424856 AGBL5 Nonsynonymous SNV D702N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 305124 chr5 140249727 140249727 C T rs782428763 PCDHA11 Nonsynonymous SNV P347S 0.002 0 0 0 2 0 0 0 0 0 0 0 25 305125 chr19 1466335 1466335 G A rs200917515 APC2 Nonsynonymous SNV G1011D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 305126 chr17 72956202 72956202 G A HID1 Synonymous SNV V290V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 305127 chr17 72999884 72999884 G A CDR2L Synonymous SNV L371L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.314 305128 chr19 10657894 10657894 C - ATG4D R205Afs*54 0.002 0 0 0 2 0 0 0 0 0 0 0 305129 chr5 140773738 140773738 C T rs115102808 PCDHGA8 Nonsynonymous SNV P453L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.273 305130 chr5 129243901 129243901 G A CHSY3 Nonsynonymous SNV G312R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 305131 chr2 3691473 3691473 C T rs139848694 COLEC11 Nonsynonymous SNV A120V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 305132 chr5 14481353 14481353 A G TRIO Nonsynonymous SNV K2116R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 305133 chr17 79517512 79517512 G A rs201500435 FAAP100 Synonymous SNV P336P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.835 305134 chr2 42991071 42991071 G A OXER1 Synonymous SNV C83C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.16 305135 chr2 55555477 55555477 C G rs144896196 CCDC88A Nonsynonymous SNV E983Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 305136 chr19 15220535 15220535 C G rs565941164 SYDE1 Nonsynonymous SNV P84A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 305137 chr17 78328425 78328425 T C rs200483027 RNF213-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 0.358 305138 chr19 3531959 3531959 A G rs202153731 FZR1 Nonsynonymous SNV M203V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.809 305139 chr2 71816725 71816725 C A DYSF Synonymous SNV G1103G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.553 305140 chr19 4333765 4333765 T G STAP2 Nonsynonymous SNV I75L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.308 305141 chr19 34263196 34263196 G C rs542659604 CHST8 Nonsynonymous SNV R168P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 305142 chr18 2666910 2666910 T G SMCHD1 Nonsynonymous SNV S102A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 305143 chr18 46385831 46385831 G A rs761948658 CTIF Synonymous SNV L566L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.18 305144 chr3 101056434 101056434 C T SENP7 Nonsynonymous SNV R636Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 305145 chr19 6746180 6746180 C T rs529912590 TRIP10 Synonymous SNV S375S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 305146 chr5 172185256 172185256 C T rs568753716 LOC101928093 0 0 0 1 0 0 0.003 0 0 0 0 0 9.612 305147 chr5 31526883 31526883 A G rs776826312 DROSHA Nonsynonymous SNV Y53H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 305148 chr3 111844081 111844081 G T rs147855189 GCSAM Nonsynonymous SNV P56T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.787 305149 chr19 33597642 33597642 G A GPATCH1 Synonymous SNV V374V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 305150 chr18 28712551 28712551 C G rs147041330 DSC1 Nonsynonymous SNV G740R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 305151 chr19 8162203 8162203 - G rs781712234 FBN3 Frameshift insertion N1753Qfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 305152 chr19 35617773 35617773 G C rs142079025 LGI4 Synonymous SNV P259P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.486 305153 chr3 113169332 113169332 C A SPICE1 Nonsynonymous SNV G725V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 305154 chr19 38828007 38828007 A G CATSPERG Nonsynonymous SNV T45A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.783 305155 chr5 36671137 36671137 C T SLC1A3 Nonsynonymous SNV A63V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 305156 chr19 39214663 39214663 C T rs527527101 ACTN4 Synonymous SNV S546S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 305157 chr19 37880022 37880022 G A rs772051180 ZNF527 Synonymous SNV P357P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.856 305158 chr19 38056530 38056530 G A ZNF571 Nonsynonymous SNV T267I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.3 305159 chr19 38057190 38057190 A C rs753749082 ZNF571 Nonsynonymous SNV L47W 0.002 0 0 0 2 0 0 0 0 0 0 0 9.123 305160 chr3 122437700 122437700 G A PARP14 Nonsynonymous SNV D1568N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.383 305161 chr18 55273885 55273885 T A NARS1 Nonsynonymous SNV K367M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 305162 chr19 42703964 42703964 G T rs559002560 DEDD2 Synonymous SNV R203R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 305163 chr19 9072671 9072671 G A rs745855570 MUC16 Synonymous SNV T4925T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.257 305164 chr3 125725876 125725876 C T SLC41A3 Nonsynonymous SNV A457T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 305165 chr5 64466540 64466540 C G ADAMTS6 Nonsynonymous SNV G1050R 0.002 0 0 0 2 0 0 0 0 0 0 0 34 305166 chr19 40964121 40964121 C T rs145500296 BLVRB Nonsynonymous SNV R92Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 305167 chr19 41778044 41778044 C T HNRNPUL1 Nonsynonymous SNV S70F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 305168 chr18 64176386 64176386 C T rs150353589 CDH19 Synonymous SNV P558P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 14.5 305169 chr19 10428989 10428989 G A rs779183860 RAVER1 Synonymous SNV P635P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 305170 chr19 44661203 44661203 A G rs780294055 ZNF234 Nonsynonymous SNV K345R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 305171 chr3 131068478 131068478 C T NEK11 Nonsynonymous SNV A458V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 305172 chr19 10742604 10742604 C T rs377676445 SLC44A2 Synonymous SNV T227T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 305173 chr19 12780205 12780205 T C WDR83OS Nonsynonymous SNV N5D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 305174 chr19 45412466 45412466 G A rs749102800 APOE Nonsynonymous SNV V305M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.69 305175 chr19 45662104 45662104 C T rs987649009 NKPD1 Nonsynonymous SNV V116I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.969 305176 chr19 45854585 45854585 C T rs373906614 KLC3 Synonymous SNV S495S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 305177 chr19 45885923 45885923 G T rs760532939 PPP1R13L Nonsynonymous SNV S770R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 305178 chr5 65349646 65349646 A C ERBIN Nonsynonymous SNV N834H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 305179 chr3 14508027 14508027 G A SLC6A6 Nonsynonymous SNV V246I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 305180 chr6 54735376 54735376 T A FAM83B Nonsynonymous SNV V111E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 305181 chr19 15586891 15586891 G C rs139180046 PGLYRP2 Nonsynonymous SNV P197R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 305182 chr19 45655718 45655718 G A rs760638462 NKPD1 Synonymous SNV L659L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.581 305183 chr19 45852778 45852778 G A rs200273694 KLC3 Nonsynonymous SNV R354Q 0.002 0 0 0 2 0 0 0 0 0 0 0 18.25 305184 chr19 49261381 49261381 C A rs182407076 FGF21 Synonymous SNV P178P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 305185 chr5 77335063 77335063 G A rs144420604 AP3B1 Synonymous SNV H822H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.024 305186 chr19 49376968 49376968 G T rs139708522 PPP1R15A Stop gain E160X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 305187 chr19 49812625 49812625 C T rs746461971 SLC6A16 Nonsynonymous SNV G307D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 305188 chr6 107361242 107361242 C T rs782162019 MTRES1 Nonsynonymous SNV S93F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 305189 chr19 50059859 50059859 G A rs147853428 NOSIP Synonymous SNV A224A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 305190 chr6 108616303 108616303 T C rs144684703 AFG1L Nonsynonymous SNV L7P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.39 305191 chr19 7595356 7595356 C T rs151300825 MCOLN1 Nonsynonymous SNV A515V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 305192 chr19 50837130 50837130 G A rs143536669 NAPSB 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 305193 chr6 109773806 109773806 C T rs34699467 MICAL1 Nonsynonymous SNV R195H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 305194 chr3 183508669 183508669 G A rs188928313 YEATS2 Nonsynonymous SNV A1000T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.314 305195 chr5 94936775 94936775 G A rs200763153 ARSK Nonsynonymous SNV D441N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 305196 chr7 766557 766557 C T DNAAF5 Nonsynonymous SNV T67I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.643 305197 chr19 19638124 19638124 G A rs755556354 NDUFA13 Nonsynonymous SNV A70T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 305198 chr19 5719919 5719919 G C LONP1 Synonymous SNV G75G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.871 305199 chr3 192981016 192981016 T C rs749797080 PLAAT1 Nonsynonymous SNV S133P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 305200 chr19 51330264 51330264 G A rs745411042 KLK15 Synonymous SNV R116R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.388 305201 chr19 9068474 9068474 G A rs779827608 MUC16 Synonymous SNV D6324D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.373 305202 chr7 91652302 91652302 G C rs144372406 AKAP9 Nonsynonymous SNV S1376T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.018 305203 chr3 25611309 25611309 G T rs762658175 RARB Nonsynonymous SNV S170I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 305204 chr3 25611310 25611310 C T rs766001096 RARB Synonymous SNV S170S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 305205 chr3 32280576 32280576 C G rs780499505 CMTM8 Nonsynonymous SNV R38G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 305206 chr3 36872689 36872689 G A rs138486439 TRANK1 Synonymous SNV S2751S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.458 305207 chr19 36398148 36398148 C T rs370767403 TYROBP Nonsynonymous SNV R72H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 305208 chr19 10679194 10679194 G T CDKN2D Nonsynonymous SNV L46M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 305209 chr6 155450938 155450938 C T rs147519937 TIAM2 Nonsynonymous SNV P194L 0.003 0 0 0 3 0 0 0 0 0 0 0 25.7 305210 chr3 38565729 38565729 T C EXOG Nonsynonymous SNV I278T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 305211 chr19 56127441 56127441 C T ZNF865 Synonymous SNV T819T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.216 305212 chr19 12222643 12222643 G C rs774619138 ZNF788P Nonsynonymous SNV R94P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.714 305213 chr6 136913657 136913657 T G MAP3K5 Nonsynonymous SNV K992Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 305214 chr19 9073169 9073171 AGA - rs770776644 MUC16 S4759del 0.001 0 0 1 1 0 0.003 0 0 0 0 0 305215 chr19 57839799 57839799 G A rs150717387 ZNF543 Synonymous SNV R323R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 305216 chr6 149855873 149855873 C T rs534916962 PPIL4 Nonsynonymous SNV D168N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 305217 chr19 58565264 58565264 C G rs144536843 ZSCAN1 Nonsynonymous SNV R358G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.987 305218 chr3 46479430 46479430 C T rs185577528 LTF 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 305219 chr19 56029765 56029765 C T rs370242939 SSC5D Synonymous SNV H1374H 0.002 0 0 0 2 0 0 0 0 0 0 0 5.877 305220 chr3 46852940 46852940 C A rs745993230 PRSS44P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.244 305221 chr19 58966735 58966735 A G rs142103310 ZNF324B Nonsynonymous SNV I142V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.094 305222 chr19 56228100 56228100 C T NLRP9 Nonsynonymous SNV R775K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 305223 chr3 4836852 4836852 G A rs200426774 ITPR1 Synonymous SNV P2241P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 6.359 305224 chr19 16687166 16687166 C T rs780507334 MED26 Nonsynonymous SNV R492Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 305225 chr3 48598485 48598485 C T PFKFB4 Nonsynonymous SNV V22M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.269 305226 chr19 12127190 12127190 A G ZNF433 Synonymous SNV H164H 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.078 305227 chr19 6752732 6752732 G A rs368877976 SH2D3A Synonymous SNV L535L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 305228 chr19 56701423 56701423 C T rs200971173 ZSCAN5B Nonsynonymous SNV A421T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.138 305229 chr19 7076481 7076481 C T rs200637274 ZNF557 Synonymous SNV D70D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 305230 chr19 7830999 7830999 G T CLEC4M Nonsynonymous SNV E202D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 305231 chr3 52550109 52550109 A G rs753748052 STAB1 Synonymous SNV P1333P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.182 305232 chr19 57954980 57954980 C G ZNF749 Nonsynonymous SNV T68R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 305233 chr3 52778313 52778313 T C rs1008619273 NEK4 Synonymous SNV P523P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 305234 chr7 139102323 139102323 C T FMC1-LUC7L2, LUC7L2 Synonymous SNV S283S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 305235 chr6 2749588 2749588 C A rs910958296 MYLK4 Stop gain E37X 0.002 0 0 0 2 0 0 0 0 0 0 0 8.615 305236 chr19 19756495 19756495 G A rs771015526 ATP13A1 Synonymous SNV D1155D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 305237 chr6 170064324 170064324 A G WDR27 Nonsynonymous SNV L154P 0 0 0 1 0 0 0.003 0 0 0 0 0 24 305238 chr19 48378034 48378034 C T rs370526585 SULT2A1 Nonsynonymous SNV E209K 0.002 0 0 0 2 0 0 0 1 0 0 0 24 305239 chr3 62317070 62317070 T C rs780102330 C3orf14 Nonsynonymous SNV L83P 0 0 0.007 0 0 0 0 2 0 0 0 0 26.9 305240 chr3 97541099 97541099 C T rs772391478 CRYBG3 Nonsynonymous SNV R17W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 305241 chr20 2796091 2796091 G A rs760586982 C20orf141 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 305242 chr6 69653736 69653736 G T ADGRB3 Stop gain E349X 0.001 0 0 0 1 0 0 0 0 0 0 0 49 305243 chr19 18119834 18119834 G C ARRDC2 Nonsynonymous SNV K127N 0 0 0 1 0 0 0.003 0 0 0 0 0 25 305244 chr6 7246899 7246899 G A RREB1 Nonsynonymous SNV A1351T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 305245 chr19 50162953 50162953 C A IRF3 Nonsynonymous SNV A418S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 305246 chr20 3846644 3846644 C T rs61739401 MAVS Synonymous SNV G350G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13 305247 chr19 50394281 50394281 A G rs374831723 IL4I1 Synonymous SNV Y240Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.128 305248 chr19 50792862 50792862 G A rs373651452 MYH14 Nonsynonymous SNV R1600H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 305249 chr19 50810411 50810411 C T rs1023617721 MYH14 Synonymous SNV D1887D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 305250 chr6 28264605 28264605 A G PGBD1 Nonsynonymous SNV T219A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 305251 chr1 101198137 101198137 T C VCAM1 Synonymous SNV T471T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.712 305252 chr1 103491824 103491824 T C rs199539580 COL11A1 Nonsynonymous SNV E282G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.49 305253 chr19 51301506 51301506 G A rs781758714 C19orf48 Nonsynonymous SNV P67L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.255 305254 chr6 52400599 52400599 T C rs762893969 TRAM2 Nonsynonymous SNV I56V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.23 305255 chr7 18687472 18687472 T C HDAC9 Nonsynonymous SNV L287P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 305256 chr20 20055848 20055848 A G rs367870948 CFAP61 Synonymous SNV A129A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.875 305257 chr20 23424614 23424614 G T rs147512873 CSTL1 Nonsynonymous SNV W88L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 305258 chr1 115053379 115053379 G A rs989514484 TRIM33 Nonsynonymous SNV P107S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 305259 chr1 115268849 115268849 T C rs749419444 CSDE1 Synonymous SNV E510E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.463 305260 chr4 128729193 128729193 A G rs748762337 HSPA4L Synonymous SNV S388S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.018 305261 chr4 129864289 129864289 T C rs144333168 SCLT1 Synonymous SNV V498V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.235 305262 chr20 31656654 31656654 C T rs199722228 BPIFB3 Nonsynonymous SNV R342W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 305263 chr19 38876576 38876576 C T rs373601877 GGN Synonymous SNV P442P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 305264 chr20 31996676 31996676 C T rs751302839 SNTA1 Nonsynonymous SNV R419H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 305265 chr19 53384086 53384086 A G rs761014009 ZNF320 Synonymous SNV H431H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.804 305266 chr4 140417660 140417660 G A rs1021165655 SETD7 Synonymous SNV H312H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.335 305267 chr20 36642202 36642202 G T rs781765172 TTI1 Nonsynonymous SNV T6N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.75 305268 chr1 14108613 14108613 G C PRDM2 Nonsynonymous SNV K1240N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 305269 chr4 153896052 153896052 C T rs756746617 FHDC1 Nonsynonymous SNV R537C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 305270 chr6 88773916 88773916 T G rs2276089 SPACA1 Nonsynonymous SNV L237W 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 305271 chr7 35674753 35674753 C T HERPUD2 Synonymous SNV L311L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 305272 chr20 40162097 40162097 T A rs746174754 CHD6 Nonsynonymous SNV E49V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 305273 chr6 88853737 88853737 C T rs998808637 CNR1 Synonymous SNV A419A 0.002 0 0 0 2 0 0 0 0 0 0 0 2.357 305274 chr8 54897075 54897075 T C rs536110770 TCEA1 Nonsynonymous SNV I155V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 305275 chr19 38708477 38708477 C T rs145138452 DPF1 Nonsynonymous SNV A213T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 305276 chr4 158091800 158091800 C A rs570886685 GLRB Synonymous SNV R472R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.21 305277 chr19 38857811 38857811 C T rs146226179 CATSPERG Nonsynonymous SNV P837S 0 0 0 3 0 0 0.008 0 0 0 0 0 22.9 305278 chr19 42720961 42720961 C T DEDD2 Nonsynonymous SNV E67K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 305279 chr1 152058409 152058410 AG - TCHHL1 S583Cfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 305280 chr19 55777324 55777324 G C rs758612420 HSPBP1 Nonsynonymous SNV Q321E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.32 305281 chr19 40487134 40487134 T C rs140312524 PSMC4 Synonymous SNV I393I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.026 305282 chr6 54212173 54212173 G T rs763918929 TINAG Nonsynonymous SNV A253S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 305283 chr1 153534008 153534008 G A rs61731553 S100A2 Synonymous SNV D34D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.573 305284 chr19 56329394 56329394 T C rs114117210 NLRP11 Synonymous SNV K49K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 305285 chr4 185940645 185940645 G A HELT Synonymous SNV Q44Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.65 305286 chr7 50513557 50513557 C T rs377746465 FIGNL1 Nonsynonymous SNV E477K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 305287 chr1 155699078 155699078 T C rs1025391605 DAP3 Nonsynonymous SNV M221T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.634 305288 chr6 75848040 75848042 TGT - COL12A1 T585del 0 0 0 1 0 0 0.003 0 0 0 0 0 305289 chr4 2306339 2306339 G A rs199832545 ZFYVE28 Synonymous SNV D546D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.224 305290 chr1 158059417 158059417 C T rs6683714 KIRREL1 Synonymous SNV N290N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 305291 chr19 58443800 58443808 CAGAATTCT - ZNF418 E19_S21del 0.001 0 0 0 1 0 0 0 0 0 0 0 305292 chr1 158746566 158746566 G T rs199979930 OR6N2 Nonsynonymous SNV P287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 305293 chr19 48699889 48699889 C T rs45539734 ZSWIM9 Synonymous SNV T856T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 305294 chr1 159901718 159901718 C G rs561289172 IGSF9 Nonsynonymous SNV A416P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 305295 chr19 59063084 59063084 C T rs138058612 CHMP2A Nonsynonymous SNV A201T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 305296 chr7 100799988 100799988 C T rs148305541 AP1S1 Synonymous SNV V39V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 305297 chr6 99856033 99856033 A G PNISR Nonsynonymous SNV L263S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 305298 chr20 62700840 62700840 G A rs147311988 TCEA2 Synonymous SNV T152T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.8 305299 chr20 1286584 1286584 C T rs770008898 SNPH Synonymous SNV I457I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.879 305300 chr7 138819412 138819412 G A TTC26 Synonymous SNV R5R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.27 305301 chr7 117874507 117874507 G A rs370288583 ANKRD7 Nonsynonymous SNV A68T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 305302 chr19 50393559 50393559 T - rs755215764 IL4I1 S358Afs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 305303 chr4 48096107 48096107 C T rs758626433 TXK Synonymous SNV Q232Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 305304 chr4 57180878 57180880 GAG - rs778641457 KIAA1211 E407del 0 0 0.003 0 0 0 0 1 0 0 0 0 305305 chr19 49950599 49950599 A C rs764817793 PIH1D1 Nonsynonymous SNV S203A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 305306 chr21 35254699 35254699 T C rs375123893 ITSN1 Synonymous SNV S1493S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.232 305307 chr21 36259188 36259188 C A rs142472642 RUNX1 Synonymous SNV V74V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.18 305308 chr21 37787619 37787619 C T rs115392153 CHAF1B Nonsynonymous SNV T507M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.1 305309 chr20 17617241 17617241 A G rs770814548 RRBP1 Nonsynonymous SNV V773A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 305310 chr20 17622495 17622495 T C rs34537635 RRBP1 Nonsynonymous SNV T711A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 11.22 305311 chr20 20258002 20258002 G C CFAP61 Nonsynonymous SNV R899P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 305312 chr20 30432787 30432787 G A rs149428291 FOXS1 Nonsynonymous SNV R187W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 305313 chr21 46916425 46916425 C T rs756624877 COL18A1 Synonymous SNV G1020G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 305314 chr1 19934517 19934517 G A rs192774914 RPS14P3 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 305315 chr21 47848454 47848454 C G rs137872392 PCNT Nonsynonymous SNV T2429R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 305316 chr21 48064347 48064347 G A rs368371949 PRMT2 Nonsynonymous SNV D92N 0.002 0 0 0 2 0 0 0 0 0 0 0 20.1 305317 chr20 42935752 42935752 G A rs139282150 FITM2 Nonsynonymous SNV T101M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 305318 chr22 17590431 17590431 C G rs752964682 IL17RA Synonymous SNV V740V 0.002 0 0 0 2 0 0 0 0 0 0 0 8.323 305319 chr1 204110583 204110583 A G ETNK2 Nonsynonymous SNV L37P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 305320 chr1 204966449 204966449 C T rs745980171 NFASC Synonymous SNV A978A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 305321 chr7 150935231 150935231 G A rs375779152 CHPF2 Nonsynonymous SNV V595M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 305322 chr5 1085389 1085389 T C rs779071375 SLC12A7 Nonsynonymous SNV Y292C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 305323 chr22 21377871 21377871 A T P2RX6 Nonsynonymous SNV Y134F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 305324 chr22 21800024 21800024 G A rs200094983 HIC2 Synonymous SNV S280S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.18 305325 chr19 55994796 55994796 C T rs199792105 ZNF628 Nonsynonymous SNV P746S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 305326 chr22 21988834 21988834 G A rs200982664 CCDC116 Nonsynonymous SNV R199Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.7 305327 chr1 207975905 207975905 C T rs78876157 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 7.003 305328 chr5 121487954 121487954 G A rs116158782 ZNF474 Nonsynonymous SNV R90H 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 25.4 305329 chr7 2054230 2054230 C T rs41273048 MAD1L1 Synonymous SNV L330L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.146 305330 chr5 121488280 121488280 T C rs79886184 ZNF474 Nonsynonymous SNV S199P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.002 305331 chr5 121488353 121488353 T C rs114194971 ZNF474 Nonsynonymous SNV I223T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.6 305332 chr1 212161258 212161258 C T rs202190681 INTS7 Nonsynonymous SNV A274T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 305333 chr7 141170409 141170409 C T TMEM178B Synonymous SNV Y236Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.147 305334 chr7 23741724 23741724 G A rs775455584 FAM221A Nonsynonymous SNV E186K 0.002 0 0 0 2 0 0 0 0 0 0 0 32 305335 chr5 1334488 1334488 C A rs202176072 CLPTM1L Nonsynonymous SNV E269D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.537 305336 chr1 220184338 220184338 T C EPRS Nonsynonymous SNV N519D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 305337 chr1 22155506 22155506 C T rs372787835 HSPG2 Nonsynonymous SNV R4021H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 305338 chr7 143140998 143140998 C G rs778073838 TAS2R60 Synonymous SNV L151L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.281 305339 chr1 222828023 222828023 C T rs776888191 MIA3 Nonsynonymous SNV R377C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 305340 chr5 137803569 137803569 C T rs202203243 EGR1 Synonymous SNV P477P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.62 305341 chr7 2962304 2962304 C T rs895009948 CARD11 Nonsynonymous SNV G745S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 305342 chr1 227923178 227923178 G A rs754971948 SNAP47 Stop gain W23X 0 0 0.003 0 0 0 0 1 0 0 0 0 23 305343 chr7 150820909 150820911 AGA - AGAP3 K160del 0 0 0 1 0 0 0.003 0 0 0 0 0 305344 chr20 334187 334187 C T rs556926252 NRSN2 Nonsynonymous SNV R175C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.82 305345 chr20 62597814 62597814 T G rs756229980 ZNF512B Nonsynonymous SNV K238N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 305346 chr5 140856269 140856269 C A rs751321222 PCDHGC3 Nonsynonymous SNV L196M 0 0 0.007 0 0 0 0 2 0 0 0 0 23 305347 chr5 141014503 141014503 C T rs150406702 HDAC3 Synonymous SNV Q52Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 305348 chr1 229588329 229588329 C T rs144837509 NUP133 Synonymous SNV A1014A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 305349 chr20 1629839 1629839 T - SIRPG R97Efs*24 0 0 0 1 0 0 0.003 0 0 0 0 0 305350 chr5 148207010 148207010 G A ADRB2 Nonsynonymous SNV V206M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 305351 chr1 232575236 232575236 C G SIPA1L2 Nonsynonymous SNV D1217H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 305352 chr1 23279762 23279762 G T LACTBL1 Nonsynonymous SNV A505E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 305353 chr5 149265830 149265830 C T rs142934552 PDE6A Nonsynonymous SNV M612I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 305354 chr7 47892761 47892761 T C rs763406989 PKD1L1 Nonsynonymous SNV I1642V 0.003 0 0 0 3 0 0 0 0 0 0 0 0.001 305355 chr22 40661827 40661827 A C TNRC6B Synonymous SNV P531P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 305356 chr21 33039619 33039619 C T rs557930089 SOD1 Synonymous SNV A96A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 305357 chr1 235926059 235926059 C T LYST Nonsynonymous SNV V2072I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.585 305358 chr1 235969105 235969105 C T rs146513322 LYST Nonsynonymous SNV A1111T 0 0 0.003 0 0 0 0 1 0 0 0 0 25 305359 chr21 34975715 34975715 C A rs747461530 CRYZL1 Nonsynonymous SNV A154S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 305360 chr22 43606230 43606230 G A rs150291441 SCUBE1 Synonymous SNV G800G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.33 305361 chr20 5990503 5990503 A C rs748873268 CRLS1 Nonsynonymous SNV E31A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.99 305362 chr22 43972291 43972291 A G rs141575839 EFCAB6 Synonymous SNV C950C 0.002 0 0 0 2 0 0 0 0 0 0 0 0.198 305363 chr8 3063060 3063060 T A rs1028160410 CSMD1 Synonymous SNV I1650I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.888 305364 chr8 3253899 3253899 G C CSMD1 Nonsynonymous SNV Q804E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 305365 chr1 243449671 243449671 T C rs541533278 SDCCAG8 Nonsynonymous SNV L173P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 305366 chr7 35057529 35057529 T C DPY19L1 Nonsynonymous SNV T126A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 305367 chr5 167517645 167517645 C T rs773739410 TENM2 Nonsynonymous SNV R296W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 305368 chr8 56715038 56715038 C G rs138205448 TGS1 Nonsynonymous SNV N531K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 305369 chr21 45222180 45222180 A G rs199952881 RRP1 Synonymous SNV P345P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.1 305370 chr7 44578521 44578521 T C NPC1L1 Nonsynonymous SNV Q492R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 305371 chr5 176915121 176915121 T C rs143356765 PDLIM7 Nonsynonymous SNV Y333C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 305372 chr7 77256320 77256320 C T PTPN12 Nonsynonymous SNV P312S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 305373 chr8 68189527 68189527 T C rs75111017 ARFGEF1 Nonsynonymous SNV N398S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.498 305374 chr1 248845141 248845141 G A rs769530303 OR14I1 Synonymous SNV A155A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.342 305375 chr5 179228679 179228679 T A MGAT4B Nonsynonymous SNV K115M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 305376 chr1 2493211 2493211 C T rs773712618 TNFRSF14 Synonymous SNV S217S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.561 305377 chr1 26387676 26387676 C A TRIM63 Nonsynonymous SNV S161I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 305378 chr7 48506594 48506594 G A rs374724171 ABCA13 Nonsynonymous SNV R4286Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.925 305379 chr1 26898095 26898095 G T rs377161355 RPS6KA1 Synonymous SNV A591A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 305380 chr22 20229745 20229745 T C rs766703161 RTN4R Nonsynonymous SNV N304S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 305381 chrX 38079975 38079975 - GCA SRPX L23_R24insL 0.003 0 0 0 3 0 0 0 1 0 0 0 305382 chr9 100617260 100617260 A G rs762497081 FOXE1 Nonsynonymous SNV H355R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 305383 chr20 56099110 56099110 C T rs147244405 CTCFL Nonsynonymous SNV R51H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 305384 chr5 38557521 38557521 C T rs867053293 LIFR-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 305385 chr9 102782961 102782961 T C ERP44 Nonsynonymous SNV Y175C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 305386 chr1 3607488 3607488 C T TP73 Nonsynonymous SNV P7S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.2 305387 chrX 54263878 54263878 T C rs782642108 WNK3 Nonsynonymous SNV K1327R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 305388 chr22 26317287 26317287 C T rs749429924 MYO18B Synonymous SNV L1811L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.808 305389 chr1 39549924 39549924 C T rs186743740 MACF1 Nonsynonymous SNV R12W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 305390 chr22 29445504 29445504 C T rs563647748 ZNRF3 Synonymous SNV P445P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 305391 chr22 30067828 30067828 G A rs768053145 NF2 Nonsynonymous SNV R255H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.5 305392 chr22 31091491 31091491 T A OSBP2 Nonsynonymous SNV Y199N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 305393 chr9 117106003 117106003 T C rs142443528 AKNA Nonsynonymous SNV R1129G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 305394 chr1 46034301 46034301 G A rs141841941 AKR1A1 Nonsynonymous SNV V233I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 305395 chr1 46489457 46489457 G A rs1022639969 MAST2 Nonsynonymous SNV V529M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 305396 chr9 121930030 121930030 T C rs773920434 BRINP1 Nonsynonymous SNV M540V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.9 305397 chrX 135405027 135405027 G A rs138895359 ADGRG4 Nonsynonymous SNV R54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 305398 chr1 51796720 51796720 C T TTC39A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.752 305399 chr1 52280391 52280391 C G NRDC Nonsynonymous SNV D512H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 305400 chr5 79375952 79375952 G A rs372855749 CTD-2201I18.1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.681 305401 chr8 10466002 10466002 G C rs200473134 RP1L1 Nonsynonymous SNV P1869R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.259 305402 chr5 89979967 89979967 G A rs200372116 ADGRV1 Nonsynonymous SNV E2077K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 305403 chr22 43572339 43572339 C T rs777979776 TTLL12 Nonsynonymous SNV G302S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 305404 chr8 113353905 113353905 G C CSMD3 Synonymous SNV L1951L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.497 305405 chr5 90667244 90667244 A T rs144920190 ARRDC3 Nonsynonymous SNV D186E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.809 305406 chr8 117950725 117950730 GGCGGC - rs575118752 AARD A87_A88del 0 0 0 1 0 0 0.003 0 0 0 0 0 305407 chr8 119938836 119938836 C T rs11573930 TNFRSF11B Synonymous SNV E238E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 12.71 305408 chr9 130495533 130495533 C T rs776318796 TOR2A Nonsynonymous SNV A242T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.538 305409 chr8 144297269 144297269 C T rs78367243 GPIHBP1 Nonsynonymous SNV S144F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.4 305410 chr8 123963938 123963938 T A ZHX2 Nonsynonymous SNV V63E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.127 305411 chr1 6662710 6662710 G T KLHL21 Synonymous SNV A56A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 305412 chr1 67635031 67635031 C T IL23R Nonsynonymous SNV T26I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 305413 chr1 1153868 1153868 G A rs760420917 SDF4 Synonymous SNV H294H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.617 305414 chr8 144895164 144895164 G C rs375199812 MIR937 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.107 305415 chr1 1562228 1562228 C T rs756244735 MIB2 Synonymous SNV R413R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 305416 chr8 144941133 144941133 C G rs189896129 EPPK1 Nonsynonymous SNV D2097H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.59 305417 chr8 144992390 144992390 C G rs62642465 PLEC Nonsynonymous SNV D3853H 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 10.66 305418 chr22 50187923 50187923 G T rs150570710 BRD1 Synonymous SNV P701P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.66 305419 chr6 117246806 117246806 C A rs137956032 RFX6 Nonsynonymous SNV D623E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.921 305420 chr8 145004376 145004376 C T rs58836306 PLEC Nonsynonymous SNV A836T 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Benign 11.33 305421 chr1 86934669 86934669 G T rs375828178 CLCA1 Nonsynonymous SNV K5N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 305422 chr10 125804340 125804340 G T CHST15 Synonymous SNV L214L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.486 305423 chr1 8420892 8420892 G A rs542632090 RERE Nonsynonymous SNV A338V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 305424 chrX 12904831 12904831 C A TLR7 Nonsynonymous SNV L402I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.874 305425 chr6 1390906 1390906 G T FOXF2 Nonsynonymous SNV G242C 0 0 0.003 0 0 0 0 1 0 0 0 0 30 305426 chr1 95428553 95428553 C T rs778094500 LOC729970 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 305427 chr8 21958379 21958379 C T rs746694186 FAM160B2 Synonymous SNV F503F 0.002 0 0 0 2 0 0 0 0 0 0 0 3.295 305428 chr1 16262715 16262715 C T rs149328916 SPEN Nonsynonymous SNV A3327V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.48 305429 chr20 23472488 23472488 G C rs1016959529 CST8 Nonsynonymous SNV D62H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 305430 chr20 2464217 2464217 G A ZNF343 Nonsynonymous SNV P374S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 305431 chrX 78010560 78010560 G T rs201786878 LPAR4 Nonsynonymous SNV C65F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.61 305432 chrX 79936987 79936987 C T BRWD3 Nonsynonymous SNV A1503T 0.001 0 0 0 1 0 0 0 0 0 0 0 17 305433 chr9 20770051 20770051 A T FOCAD Synonymous SNV T240T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 305434 chrX 100085825 100085825 C T rs753418641 CSTF2 Synonymous SNV P306P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 305435 chr9 2643179 2643179 C T rs2242105 VLDLR Synonymous SNV P115P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.3 305436 chr6 160483620 160483620 T C rs781561859 IGF2R Synonymous SNV T1213T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.727 305437 chr22 24036100 24036100 - C rs748038406 RGL4 Frameshift insertion H285Pfs*83 0.001 0 0 1 1 0 0.003 0 0 0 0 0 305438 chr20 31829275 31829275 C T rs773494093 BPIFA1 Synonymous SNV N222N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.196 305439 chr6 161071397 161071397 T C rs191762721 LPA Nonsynonymous SNV N61S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 305440 chr20 33584208 33584208 G T rs199833535 MYH7B Nonsynonymous SNV K1043N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 305441 chrX 110988025 110988036 CTCCTCCTCCTG - ALG13 P943_A946del 0.001 0 0 0 1 0 0 0 0 0 0 0 305442 chr9 35733420 35733422 GAG - rs769225730 CREB3 E126del 0.001 0 0 0 1 0 0 0 0 0 0 0 305443 chr22 29280012 29280012 G C ZNRF3 Synonymous SNV S86S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 305444 chrX 118774683 118774683 C T rs143382025 SEPTIN6 Synonymous SNV A253A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 305445 chr20 3678679 3678679 G C rs370685594 SIGLEC1 Nonsynonymous SNV P630A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 305446 chr20 3678680 3678680 G T rs550903404 SIGLEC1 Nonsynonymous SNV D629E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 305447 chr6 170102909 170102909 C T C6orf120 Synonymous SNV V118V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 305448 chr9 37737119 37737119 C T rs780692805 FRMPD1 Synonymous SNV N476N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 305449 chr20 3684735 3684735 G A rs143082409 SIGLEC1 Nonsynonymous SNV A237V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 305450 chr6 22147408 22147408 G T rs138344047 NBAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.993 305451 chr20 39989927 39989927 C T rs147157827 EMILIN3 Nonsynonymous SNV R761Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 305452 chr20 42697310 42697310 C A rs779716371 TOX2 Stop gain S484X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 305453 chr6 24843100 24843100 T C rs200604230 RIPOR2 Nonsynonymous SNV D616G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.4 305454 chr6 25081928 25081928 T C rs185906297 CMAHP 0 0 0.007 0 0 0 0 2 0 0 0 0 3.691 305455 chr8 28575605 28575605 A C EXTL3 Nonsynonymous SNV M677L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.15 305456 chr6 26087708 26087708 C G rs201657128 HFE Nonsynonymous SNV L14V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 305457 chr8 69633621 69633621 A G rs145269861 C8orf34 Synonymous SNV A408A 0.002 0 0 0 2 0 0 0 0 0 0 0 6.873 305458 chr6 27326502 27326502 T C ZNF204P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.837 305459 chr20 45130945 45130945 C G rs776309901 ZNF334 Nonsynonymous SNV G307R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 305460 chr20 45170253 45170253 T C rs373269832 OCSTAMP Nonsynonymous SNV D454G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.932 305461 chrX 153001847 153001847 G A rs782509040 ABCD1 Nonsynonymous SNV V425I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 305462 chr6 34029733 34029733 C T rs148055958 GRM4 Nonsynonymous SNV R201H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 305463 chr20 47989525 47989525 T C rs757668876 KCNB1 Nonsynonymous SNV I858V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.291 305464 chr20 49509480 49509480 G A rs771870178 ADNP Nonsynonymous SNV P591S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 305465 chr9 95237046 95237048 TCA - ASPN D50del 0.001 0 0 0 1 0 0 0 0 0 0 0 305466 chr8 62550551 62550551 G A rs141197241 ASPH Nonsynonymous SNV P263S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.002 305467 chrX 100493970 100493970 G A rs146304533 DRP2 Nonsynonymous SNV A69T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.7 305468 chr20 58559808 58559808 G A rs147941031 CDH26 Nonsynonymous SNV R219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 305469 chrX 101857095 101857095 G A rs147081834 ARMCX5 Nonsynonymous SNV R9K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 305470 chr22 40814954 40814954 G C rs375645080 MRTFA Nonsynonymous SNV I496M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 305471 chr6 42130796 42130796 G A rs758160185 LOC114841037 Nonsynonymous SNV V65I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 305472 chr20 60886785 60886785 G C LAMA5 Nonsynonymous SNV P3231A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 305473 chr6 42858492 42858492 G T rs766074741 C6orf226 Nonsynonymous SNV P12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 305474 chr6 43252871 43252871 C A TTBK1 Synonymous SNV A1241A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 305475 chr6 54805358 54805358 A G rs375729895 FAM83B Nonsynonymous SNV K530R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 305476 chr1 57409459 57409459 C T C8B Nonsynonymous SNV D382N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 305477 chrX 32632565 32632565 T C rs72468699 DMD Nonsynonymous SNV H438R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 305478 chrX 23018986 23018986 G A rs1057518429 DDX53 Nonsynonymous SNV G271E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.9 305479 chrX 30873066 30873066 G A rs150176434 TAB3 Nonsynonymous SNV S239L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.2 305480 chrX 37312825 37312825 A G PRRG1 Nonsynonymous SNV N203S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.04 305481 chr1 78470950 78470950 T C rs150408892 DNAJB4 Synonymous SNV Y52Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.207 305482 chr1 85431342 85431342 C - rs754928593 MCOLN2 E43Kfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 305483 chrX 67331710 67331710 T G rs745685598 OPHN1 Synonymous SNV I504I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.08 305484 chrX 70888444 70888444 T C rs953482201 LOC101059915 Nonsynonymous SNV I264T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.155 305485 chrX 70888471 70888471 T C rs758555329 LOC101059915 Nonsynonymous SNV V273A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.271 305486 chrX 70888473 70888473 G A rs780182285 LOC101059915 Nonsynonymous SNV V274M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.197 305487 chrX 62944517 62944517 T C rs782666474 ARHGEF9 Synonymous SNV A35A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.893 305488 chr21 45712979 45712979 C T rs142366324 AIRE Nonsynonymous SNV P400L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.264 305489 chr21 45877268 45877268 C T rs61735251 LRRC3 Synonymous SNV P247P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.271 305490 chrX 84526015 84526015 A T ZNF711 Synonymous SNV G489G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 305491 chr1 91978842 91978842 T C rs151309281 CDC7 Nonsynonymous SNV I267T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.945 305492 chr21 47329364 47329364 C T rs201330830 PCBP3 Synonymous SNV I145I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 305493 chr21 47549258 47549258 G C COL6A2 Synonymous SNV L870L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 305494 chr9 130489549 130489549 G A TTC16 Synonymous SNV G510G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.996 305495 chrX 101409030 101409030 G T BEX5 Synonymous SNV R70R 0.001 0 0 3 1 0 0.008 0 0 0 0 1 11.51 305496 chr1 95367275 95367275 G A CNN3 Nonsynonymous SNV R105C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 305497 chrX 109694658 109694658 G T rs779691815 RTL9 Synonymous SNV L271L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.61 305498 chr9 131698735 131698735 G A rs372846213 PHYHD1 Nonsynonymous SNV A109T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 305499 chr22 19711493 19711493 G T rs551140561 GP1BB Nonsynonymous SNV G43W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 305500 chr7 1022944 1022944 C T CYP2W1 Nonsynonymous SNV P33S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 305501 chr10 11505652 11505652 G A rs201443749 USP6NL Synonymous SNV P442P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.67 305502 chr9 139277794 139277794 G A rs899082083 SNAPC4 Synonymous SNV G609G 0.002 0 0 0 2 0 0 0 0 0 0 0 2.835 305503 chr7 106797436 106797436 C T rs201018627 PRKAR2B Nonsynonymous SNV S309L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 305504 chr7 106797761 106797761 A C PRKAR2B Nonsynonymous SNV K372T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 305505 chr1 114940444 114940444 T C rs755280201 TRIM33 Synonymous SNV A1053A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.559 305506 chr7 111509658 111509658 C T rs367626411 DOCK4 Nonsynonymous SNV R694Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 305507 chr22 24452690 24452690 G T rs139342359 CABIN1 Nonsynonymous SNV V327L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 305508 chr7 120614856 120614856 G A rs149988029 ING3 Synonymous SNV Q405Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.809 305509 chr1 144916692 144916693 AG - PDE4DIP C718Sfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 305510 chr7 127714712 127714712 C T rs763763058 SND1 Synonymous SNV A646A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 305511 chr7 128587367 128587381 ACTCTGCGGCCGCCT - rs781129186 IRF5 R175_L179del 0 0 0.003 0 0 0 0 1 0 0 0 0 305512 chr22 36912827 36912827 C A rs929571707 EIF3D Nonsynonymous SNV R334I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 305513 chr22 37528470 37528470 G A rs751336614 IL2RB Nonsynonymous SNV S286L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 305514 chr1 155291823 155291823 C T RUSC1 Nonsynonymous SNV P87S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.72 305515 chr7 143175669 143175669 C A rs189299466 TAS2R41 Nonsynonymous SNV S235Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 305516 chr1 156704227 156704227 G A RRNAD1 Nonsynonymous SNV E355K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 305517 chr7 150094712 150094723 GCGCGCCCACCA - ZNF775 Q385_H388del 0 0 0.003 0 0 0 0 1 0 0 0 0 305518 chr7 150325241 150325241 C A rs143101732 GIMAP6 Nonsynonymous SNV V219F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 305519 chr22 45574301 45574301 G A NUP50 Nonsynonymous SNV V175M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 305520 chr9 34564754 34564754 C T rs375914626 CNTFR Synonymous SNV A54A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 305521 chr10 124395526 124395526 T C DMBT1 Nonsynonymous SNV Y1433H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.8 305522 chr10 128018986 128018986 A C ADAM12 Nonsynonymous SNV S61A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 305523 chr9 732386 732386 C G rs764627371 KANK1 Nonsynonymous SNV T847R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 305524 chr2 103343425 103343425 C T rs34960597 MFSD9 Stop gain W41X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 305525 chrX 100241879 100241879 C T rs150979300 ARL13A Nonsynonymous SNV P159S 0.002 0 0 0 2 0 0 0 1 0 0 0 0.079 305526 chr9 79910524 79910524 A G VPS13A Nonsynonymous SNV M1153V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.26 305527 chr7 31592721 31592721 A G ITPRID1 Nonsynonymous SNV K28R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 305528 chr9 89561417 89561417 G C GAS1 Nonsynonymous SNV P93R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 305529 chr9 91652977 91652977 G C rs56005403 SHC3 Synonymous SNV G529G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.74 305530 chr9 95738957 95738957 C T rs71496423 FGD3 Nonsynonymous SNV P140L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.659 305531 chr11 31392400 31392400 A G rs367917727 DNAJC24 Nonsynonymous SNV I35M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 305532 chr1 182517590 182517590 G A rs895141670 RGSL1 Synonymous SNV R936R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.13 305533 chrX 104464749 104464749 C T rs782552729 TEX13A Synonymous SNV L111L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.965 305534 chr7 47879153 47879153 G A rs369417620 PKD1L1 Nonsynonymous SNV T1887M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 305535 chrX 16142169 16142169 C T rs768056683 GRPR Synonymous SNV N31N 0.002 0 0 0 2 0 0 0 1 0 0 0 11.05 305536 chr10 32573723 32573723 T C rs139075975 EPC1 Synonymous SNV L549L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.692 305537 chr10 102783244 102783244 C T rs551318046 PDZD7 Nonsynonymous SNV R164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 305538 chr2 160983104 160983104 C A rs143914557 ITGB6 Nonsynonymous SNV D462Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25 305539 chr7 64388350 64388350 G A rs202155421 ZNF273 Nonsynonymous SNV C215Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.925 305540 chr10 79397323 79397323 A G rs201425608 KCNMA1 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 305541 chr2 168101618 168101618 G T rs866436677 XIRP2 Nonsynonymous SNV C1017F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 305542 chr7 72936213 72936213 G A BAZ1B Synonymous SNV P17P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 305543 chr1 205027059 205027059 A C rs1015755301 CNTN2 Synonymous SNV S27S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 305544 chrX 74648947 74648947 G A rs774534195 ZDHHC15 Nonsynonymous SNV T181M 0.003 0 0 0 4 0 0 0 2 0 0 0 24.4 305545 chr7 7571163 7571163 G C COL28A1 Nonsynonymous SNV P166R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 305546 chr2 170359613 170359613 G A rs554049177 BBS5 Synonymous SNV P275P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.487 305547 chr10 49440271 49440271 T C rs115919761 FRMPD2 Nonsynonymous SNV Q328R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.941 305548 chrX 154754255 154754255 C T rs201374974 TMLHE Nonsynonymous SNV V74I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 305549 chr10 93389798 93389798 C T rs142305917 PPP1R3C Synonymous SNV T280T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.484 305550 chr2 175324786 175324786 T C rs142543316 GPR155 Nonsynonymous SNV S503G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 305551 chr1 210502416 210502416 G C rs757118759 HHAT Nonsynonymous SNV R21P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 305552 chr7 91761159 91761159 T C rs148197561 CYP51A1 Nonsynonymous SNV I74V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 305553 chrX 32360395 32360395 A G DMD Nonsynonymous SNV I574T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 305554 chr7 97821242 97821242 C T rs201552762 LMTK2 Nonsynonymous SNV R489C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.45 305555 chrX 46433800 46433800 A C rs755870456 CHST7 Nonsynonymous SNV D145A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 305556 chr7 99161605 99161605 - C ZNF655 Frameshift insertion K87Qfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 305557 chr1 3313108 3313108 C T rs12058363 PRDM16 Synonymous SNV H209H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.14 305558 chrX 54957054 54957054 C T rs201030396 TRO Synonymous SNV F830F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.54 305559 chr2 182786917 182786917 A G rs757947881 ITPRID2 Synonymous SNV A976A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.204 305560 chr8 10469802 10469802 C T rs374308509 RP1L1 Synonymous SNV T602T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 305561 chr8 104898204 104898204 C T rs754850303 RIMS2 Synonymous SNV H267H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.685 305562 chrX 71838690 71838690 C G rs781857022 PHKA1 Nonsynonymous SNV V688L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 305563 chr2 190541656 190541656 T C rs778829187 ANKAR Nonsynonymous SNV L147P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 305564 chr2 192160871 192160871 C T MYO1B Nonsynonymous SNV P57L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 305565 chr2 201355094 201355094 G A rs762837663 KCTD18 Nonsynonymous SNV T337M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 305566 chr2 201852143 201852143 G A FAM126B Synonymous SNV R368R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 305567 chr2 202245381 202245381 C T rs753270142 TRAK2 Nonsynonymous SNV G877D 0 0 0.003 0 0 0 0 1 0 0 0 0 26 305568 chr10 16990537 16990537 C A rs769662282 CUBN Nonsynonymous SNV V1717F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 305569 chr1 16261827 16261827 C T SPEN Nonsynonymous SNV P3031L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 305570 chr8 141675037 141675037 T C rs377645776 PTK2 Synonymous SNV L264L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.65 305571 chr1 241936112 241936112 T C WDR64 Nonsynonymous SNV M770T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 305572 chr1 247150718 247150718 G T ZNF695 Nonsynonymous SNV L367M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 305573 chr10 28348585 28348585 T C rs148937697 MPP7 Nonsynonymous SNV N431S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 305574 chr1 247492052 247492052 C T rs765352710 ZNF496 Synonymous SNV Q169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.887 305575 chr11 114401334 114401334 C T rs747544730 NXPE1 Synonymous SNV K132K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.36 305576 chr2 218758264 218758264 G A rs201392776 TNS1 Synonymous SNV P80P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 305577 chr1 19549226 19549226 G A rs563968339 EMC1 Nonsynonymous SNV R805C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 305578 chr8 144803227 144803227 C A MAPK15 Nonsynonymous SNV H325Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 305579 chr8 144994908 144994908 C T rs199758196 PLEC Synonymous SNV A3013A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.264 305580 chr8 145003962 145003962 G A rs201202488 PLEC Synonymous SNV A911A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.694 305581 chr10 123845810 123845810 C A TACC2 Synonymous SNV G1265G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.08 305582 chr8 145058533 145058533 T C rs782049000 PARP10 Nonsynonymous SNV S521G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 305583 chr8 145101835 145101835 G C SPATC1 Nonsynonymous SNV G585A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 305584 chr2 225653875 225653875 A G DOCK10 Nonsynonymous SNV M1769T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 305585 chr2 234698550 234698550 C T rs141152795 MROH2A Nonsynonymous SNV S154F 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 24.5 305586 chr8 21827766 21827766 A C XPO7 Nonsynonymous SNV Q124P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 305587 chr8 21959748 21959748 C G FAM160B2 Synonymous SNV P637P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 305588 chr8 21964820 21964820 C T rs757949590 NUDT18 Synonymous SNV V321V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 305589 chr8 22053088 22053088 C T rs759325498 BMP1 Nonsynonymous SNV R585C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 305590 chr2 234890444 234890444 T C TRPM8 Nonsynonymous SNV L825S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 305591 chr8 22960785 22960785 C T LOC254896 0 0 0.003 0 0 0 0 1 0 0 0 0 7.479 305592 chr8 24810423 24810423 C T rs377758736 NEFL Nonsynonymous SNV G511E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 305593 chr11 134054559 134054559 T A rs748167490 NCAPD3 Synonymous SNV A670A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.05 305594 chr10 29821758 29821758 C T rs147010426 SVIL Nonsynonymous SNV S513N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.96 305595 chr10 76735363 76735363 C G rs770325540 KAT6B Nonsynonymous SNV S423C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.4 305596 chr10 82363530 82363530 A G rs747559683 SH2D4B Nonsynonymous SNV Q231R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 305597 chr10 84711247 84711247 G T rs138439179 NRG3 Nonsynonymous SNV R359S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 305598 chr2 42990309 42990309 G C rs764895326 OXER1 Nonsynonymous SNV F337L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 305599 chr1 46810700 46810700 - CTGCAGTCTGAGGGTGGCCAATCTGCAGCCCCATCCCCTGCCTCCTGGGC NSUN4 Frameshift insertion P78Lfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 305600 chr2 44104758 44104758 G A rs373654559 ABCG8 Synonymous SNV K604K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.454 305601 chr8 76465332 76465332 G A HNF4G Nonsynonymous SNV S172N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 305602 chr2 3727552 3727552 G C rs761437342 ALLC Nonsynonymous SNV R89P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 305603 chr1 51613395 51613395 C T rs548757747 C1orf185 Synonymous SNV T184T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 305604 chr1 51768756 51768756 C T rs771991689 TTC39A Nonsynonymous SNV G256S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 305605 chr2 39193222 39193222 C G ARHGEF33 Nonsynonymous SNV Q807E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 305606 chr11 3249343 3249343 G A rs369020369 MRGPRE Synonymous SNV C229C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.585 305607 chr1 60133021 60133021 T C rs753155543 FGGY Nonsynonymous SNV C156R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 305608 chr2 6115134 6115134 T G rs74577170 SILC1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.867 305609 chr2 61413899 61413899 A C rs150707962 AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 305610 chr11 72945574 72945574 C T P2RY2 Nonsynonymous SNV L124F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 305611 chr2 73475024 73475024 C T rs61736516 CCT7 Synonymous SNV D47D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 305612 chr2 73650009 73650009 C A rs11889925 ALMS1 Nonsynonymous SNV P224H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.6 305613 chr2 73651975 73651975 T C rs139512700 ALMS1 Synonymous SNV Y394Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.002 305614 chr2 73677808 73677808 C G rs115517108 ALMS1 Nonsynonymous SNV T1384R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.041 305615 chr2 73678823 73678823 A G rs75434052 ALMS1 Synonymous SNV Q1722Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.244 305616 chr2 73679661 73679661 A G rs7587103 ALMS1 Nonsynonymous SNV I2002V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.001 305617 chr2 73786220 73786220 C T rs78108069 ALMS1 Synonymous SNV P3444P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.79 305618 chr11 45827460 45827460 G A rs779390849 SLC35C1 Synonymous SNV L36L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.227 305619 chr2 7027279 7027279 A C rs748085752 RSAD2 Nonsynonymous SNV N241T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.842 305620 chr2 74750341 74750341 T G rs73949679 DQX1 Nonsynonymous SNV Y350S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 305621 chr2 74777472 74777472 C A rs73949682 LOXL3 Nonsynonymous SNV R106L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.6 305622 chr9 114840857 114840857 C - SUSD1 E572Nfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 305623 chr11 47469483 47469483 C T rs35810986 RAPSN Nonsynonymous SNV V138I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.5 305624 chr9 116854145 116854145 T C rs143019526 KIF12 Nonsynonymous SNV H513R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 305625 chr2 85536353 85536353 G A rs564263429 TCF7L1 Nonsynonymous SNV R512Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 305626 chr9 117139496 117139496 C T rs370664547 AKNA Synonymous SNV P78P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.883 305627 chr2 85663647 85663647 T A rs72936701 SH2D6 Nonsynonymous SNV V125E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 305628 chr2 80816602 80816602 C T CTNNA2 Synonymous SNV D406D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 305629 chr2 86364591 86364591 G C rs749530016 PTCD3 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 305630 chr11 48346785 48346785 A G rs142816874 OR4C3 Nonsynonymous SNV Y71C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.63 305631 chr11 86098560 86098560 G A rs759232484 CCDC81 Synonymous SNV G48G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 305632 chr9 123686038 123686038 C T rs141143362 TRAF1 Nonsynonymous SNV R58K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.141 305633 chr2 88485535 88485535 C T rs143087335 THNSL2 Nonsynonymous SNV R450C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 305634 chr2 89035229 89035229 C T rs755853302 RPIA Nonsynonymous SNV R191C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 305635 chr9 125281721 125281721 T A OR1J4 Nonsynonymous SNV M101K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 305636 chr2 95818959 95818959 C T ZNF514 Nonsynonymous SNV E87K 0.001 0 0 0 1 0 0 0 0 0 0 0 31 305637 chr2 95950791 95950791 C T rs773252038 PROM2 Synonymous SNV A601A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 305638 chr10 81146179 81146179 G A rs140326422 ZCCHC24 Synonymous SNV S216S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.59 305639 chr2 97482813 97482813 C T rs1015625758 CNNM3 Synonymous SNV L267L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.776 305640 chr2 97568441 97568441 C A rs766255820 FAM178B Synonymous SNV R522R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 305641 chr2 97586937 97586937 G A rs980746276 FAM178B Synonymous SNV L509L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 305642 chr2 103090411 103090411 G T rs756206918 SLC9A4 Nonsynonymous SNV D65Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25 305643 chr3 112066616 112066616 G A rs755301927 CD200 Synonymous SNV E137E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 305644 chr11 5344773 5344773 G A rs200357780 OR51B2 Nonsynonymous SNV T252I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 305645 chr2 128392221 128392221 G A rs986634782 MYO7B Synonymous SNV V1866V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 305646 chr3 122632047 122632047 G A rs749978509 SEMA5B Synonymous SNV D777D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.992 305647 chr11 12248676 12248676 C T rs769329735 MICAL2 Nonsynonymous SNV R665W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 305648 chr3 126229605 126229605 G A rs142790681 UROC1 Synonymous SNV P53P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.722 305649 chr3 130742901 130742901 A G rs144149458 ASTE1 Nonsynonymous SNV I417T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.683 305650 chr1 147380421 147380421 G C rs782232746 GJA8 Nonsynonymous SNV E113D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 305651 chr3 133670066 133670066 G A rs79619371 SLCO2A1 Nonsynonymous SNV P283S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.5 305652 chr9 16436966 16436966 G A rs143576449 BNC2 Nonsynonymous SNV A367V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 305653 chr2 170027106 170027106 C T rs199583537 LRP2 Nonsynonymous SNV D3779N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 305654 chr11 134104807 134104807 C T rs143602126 VPS26B Synonymous SNV R80R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 305655 chr1 151260853 151260853 G A rs772681535 ZNF687 Nonsynonymous SNV G696S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 305656 chr3 140401458 140401458 T C TRIM42 Nonsynonymous SNV C166R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 305657 chr9 27556634 27556634 A G C9orf72 Nonsynonymous SNV F339S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 305658 chr9 32989810 32989810 A G rs117041645 APTX Nonsynonymous SNV I27T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.5 305659 chr9 33927938 33927938 G A rs556985244 UBAP2 Nonsynonymous SNV T690M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 305660 chr3 148727072 148727072 A G GYG1 Nonsynonymous SNV Q164R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 305661 chr3 151055656 151055656 A G rs373677050 P2RY12 Synonymous SNV N326N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 305662 chr2 179433258 179433258 T C rs777276284 TTN Synonymous SNV Q16802Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.299 305663 chr11 18503252 18503252 G A rs776726144 TSG101 Synonymous SNV N336N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.773 305664 chr9 71628256 71628256 G T PRKACG Synonymous SNV I251I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.304 305665 chr9 72959068 72959068 C A rs201420907 SMC5 Nonsynonymous SNV F802L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 305666 chr9 73152062 73152062 G T rs184424910 TRPM3 Nonsynonymous SNV L1301I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 305667 chr12 18234282 18234282 G A rs370849657 RERGL Nonsynonymous SNV A153V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 305668 chr11 31436423 31436423 C G DNAJC24 Nonsynonymous SNV F59L 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 305669 chr3 186272698 186272698 G A rs141952801 TBCCD1 Synonymous SNV L249L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.388 305670 chr9 990666 990666 C G rs780148752 DMRT3 Synonymous SNV P360P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.608 305671 chr11 619749 619749 C T rs114012764 CDHR5 Nonsynonymous SNV V371I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 305672 chrX 100745830 100745830 G A rs782550005 ARMCX4 Nonsynonymous SNV A752T 0 0 0.007 0 0 0 0 2 0 0 0 0 2.061 305673 chr11 6232258 6232258 G A rs369121502 C11orf42 Nonsynonymous SNV D330N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 305674 chr11 3687392 3687392 A C CHRNA10 Nonsynonymous SNV I227S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 305675 chr2 202622340 202622340 T C ALS2 Nonsynonymous SNV K419R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.707 305676 chr2 205986427 205986427 T G rs748473385 PARD3B Nonsynonymous SNV F307V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.854 305677 chr2 206480385 206480385 C T rs776213727 PARD3B Stop gain R1087X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 305678 chr3 194392834 194392834 G C rs148357496 LSG1 Nonsynonymous SNV Q20E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 305679 chr3 195295954 195295954 G A rs751978912 APOD Synonymous SNV A129A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 305680 chr3 195487818 195487818 C T rs533971620 MUC4 Nonsynonymous SNV A642T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.3 305681 chr2 211515148 211515148 A T rs201246466 CPS1 Nonsynonymous SNV T1156S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.26 305682 chrX 149680355 149680355 C T rs147056898 MAMLD1 Nonsynonymous SNV T670I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.851 305683 chr3 37459001 37459001 T C rs781139607 C3orf35 Nonsynonymous SNV S82P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 305684 chr3 38153224 38153224 A G DLEC1 Nonsynonymous SNV K1170R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.3 305685 chrX 16142093 16142093 G C rs75623611 GRPR Nonsynonymous SNV C6S 0 0.005 0.003 0 0 2 0 1 0 1 0 0 Likely benign 8.889 305686 chrX 2799191 2799191 C G rs148296798 GYG2 Nonsynonymous SNV I224M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 305687 chr2 220399995 220399995 G A ASIC4 Nonsynonymous SNV G501D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 305688 chrX 48681776 48681776 A G HDAC6 Synonymous SNV T989T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.206 305689 chrX 49126919 49126919 C T rs782307066 PPP1R3F Nonsynonymous SNV A196V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 305690 chrX 65242113 65242113 C T VSIG4 Nonsynonymous SNV V304I 0 0 0.01 0 0 0 0 3 0 0 1 0 0.228 305691 chrX 73063468 73063468 T C rs759165669 XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 1.728 305692 chrX 73961959 73961959 C T rs375098045 NEXMIF Synonymous SNV P811P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 305693 chrX 79698428 79698428 C T rs143610675 TENT5D Synonymous SNV Y130Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.252 305694 chr11 55595268 55595268 G A rs150991491 OR5L2 Nonsynonymous SNV V192I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.402 305695 chr11 7488026 7488026 C T rs147851702 SYT9 Stop gain R491X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 305696 chr11 75907604 75907604 C T rs781536011 WNT11 Nonsynonymous SNV R81H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 31 305697 chr11 33053926 33053926 C G DEPDC7 Nonsynonymous SNV L347V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.04 305698 chr11 800358 800358 C T rs749798495 PIDD1 Nonsynonymous SNV R712Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 305699 chr3 52836514 52836514 G A rs762688152 ITIH3 Synonymous SNV K516K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.37 305700 chr10 105362217 105362217 C T rs371255618 SH3PXD2A Nonsynonymous SNV E801K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.502 305701 chr10 105362973 105362973 G A SH3PXD2A Nonsynonymous SNV L549F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.046 305702 chr10 105484114 105484114 A G SH3PXD2A Synonymous SNV L104L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.116 305703 chr1 216017823 216017823 A T rs111033456 USH2A Nonsynonymous SNV L3024H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.772 305704 chr10 105799220 105799220 C T COL17A1 Nonsynonymous SNV G960E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 305705 chr2 242814604 242814604 G C rs78628254 RTP5 Synonymous SNV P299P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.158 305706 chr2 242814778 242814778 C T rs7597435 RTP5 Synonymous SNV T357T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.316 305707 chr2 242815157 242815157 C T rs77317868 RTP5 Nonsynonymous SNV R484C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.36 305708 chr3 97888338 97888338 G A rs371915983 OR5H15 Synonymous SNV P265P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.13 305709 chr3 99569010 99569010 G A rs189755672 FILIP1L Nonsynonymous SNV R264W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 305710 chr3 99649719 99649719 G - rs762517685 FILIP1L P49Rfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 305711 chr12 101017951 101017951 C T rs200042143 GAS2L3 Synonymous SNV P456P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 305712 chr11 57466521 57466521 G A rs532976356 ZDHHC5 Nonsynonymous SNV R538H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 305713 chr11 57492049 57492049 C T rs998098584 TMX2 Synonymous SNV P68P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.216 305714 chr4 103556084 103556084 C T MANBA Nonsynonymous SNV R759K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 305715 chr4 106580493 106580493 G T ARHGEF38 Nonsynonymous SNV A506S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.76 305716 chr3 17300085 17300085 - A rs566419471 TBC1D5 0.001 0 0 0 1 0 0 0 0 0 0 0 305717 chr3 32030926 32030926 G C rs200830007 ZNF860 Nonsynonymous SNV D119H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 305718 chr3 33195093 33195093 T C SUSD5 Nonsynonymous SNV D344G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.969 305719 chr3 37067306 37067306 G A rs41294980 MLH1 Nonsynonymous SNV S48N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.324 305720 chr3 38224533 38224533 C A rs138580801 OXSR1 Nonsynonymous SNV A37D 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.67 305721 chr10 18266967 18266967 A T rs202242091 SLC39A12 Nonsynonymous SNV E162D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 305722 chr4 140651793 140651793 G A MAML3 Nonsynonymous SNV T703I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.4 305723 chr11 62556644 62556644 C G rs375060289 TMEM179B Synonymous SNV L82L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.02 305724 chr4 151738371 151738371 G A LRBA Nonsynonymous SNV P1737L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 305725 chr1 248344069 248344069 G A rs368462994 OR2M2 Nonsynonymous SNV R261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.314 305726 chr3 42243957 42243957 C T rs536156969 TRAK1 Nonsynonymous SNV T412M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 305727 chr12 122758610 122758610 C T rs201297279 CLIP1 Nonsynonymous SNV G1310R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.4 305728 chr10 31138175 31138175 G A rs767201119 ZNF438 Nonsynonymous SNV R387W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.72 305729 chr4 15689138 15689138 C T rs141207646 FAM200B Nonsynonymous SNV R180C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 305730 chr10 32745261 32745261 A G rs747840685 CCDC7 Nonsynonymous SNV N152S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.252 305731 chr4 165961530 165961530 G A TRIM60 Synonymous SNV Q102Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.013 305732 chr4 169312749 169312749 C T rs909470384 DDX60L Nonsynonymous SNV C1286Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 305733 chr4 174312442 174312442 G A rs759665625 SCRG1 Nonsynonymous SNV P42S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 305734 chr12 32884374 32884374 C T DNM1L Nonsynonymous SNV L226F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 305735 chr3 48476429 48476430 CA - rs759522565 CCDC51 C37Qfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 305736 chr3 49331986 49331986 C T rs1009982945 USP4 Synonymous SNV T532T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 305737 chr10 5488814 5488814 A G rs143847740 NET1 Nonsynonymous SNV E29G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 305738 chr4 20600010 20600010 C T SLIT2 Synonymous SNV A1224A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 305739 chr11 66610660 66610660 G A C11orf80 Synonymous SNV E497E 0.002 0 0 0 2 0 0 0 0 0 0 0 2.794 305740 chr4 25673241 25673241 G C rs749325501 SLC34A2 Nonsynonymous SNV V315L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.289 305741 chr10 69644880 69644880 - GGC rs754299932 SIRT1 A139_I140insA 0 0 0.003 0 0 0 0 1 0 0 0 0 305742 chr11 68216300 68216300 C T rs753256748 LRP5 Nonsynonymous SNV A956V 0.002 0 0 0 2 0 0 0 0 0 0 0 17.97 305743 chr4 37357990 37357990 C T NWD2 Synonymous SNV V81V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 305744 chr10 7214109 7214109 C T SFMBT2 Synonymous SNV E721E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.787 305745 chr10 72643773 72643773 G A rs148217100 PCBD1 Synonymous SNV A83A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.341 305746 chr12 22213776 22213776 T C CMAS Nonsynonymous SNV M235T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 305747 chr10 77159791 77159791 G C rs762984909 ZNF503 Nonsynonymous SNV C219W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 305748 chr4 47559867 47559867 C A rs187355739 ATP10D Nonsynonymous SNV P671T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 11.15 305749 chr12 46320876 46320876 C A rs137971738 SCAF11 Nonsynonymous SNV D870Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 305750 chr10 88469808 88469808 G A LDB3 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 305751 chr3 101481354 101481354 C T rs778152851 CEP97 Nonsynonymous SNV R556C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 305752 chr12 49259495 49259495 A C RND1 Nonsynonymous SNV V19G 0 0.003 0 0 0 1 0 0 0 0 0 0 33 305753 chr10 93572811 93572811 G A rs201518095 TNKS2 Nonsynonymous SNV G91S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 305754 chr3 107925503 107925503 T C IFT57 Nonsynonymous SNV N209S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.581 305755 chr4 6303849 6303849 A T rs56002719 WFS1 Nonsynonymous SNV E776V 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 305756 chr12 50186659 50186659 G A rs759471693 NCKAP5L Nonsynonymous SNV R1151W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 305757 chr4 6642808 6642808 C T rs149004561 MRFAP1 Synonymous SNV A73A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 305758 chr4 7056301 7056301 G A rs368691486 TADA2B Synonymous SNV P261P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.008 305759 chr3 113327016 113327016 C T rs771838238 SIDT1 Synonymous SNV R456R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 305760 chr12 52200241 52200241 G A SCN8A Synonymous SNV L1616L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.779 305761 chr4 76911938 76911938 T C rs754925802 SDAD1 Synonymous SNV L19L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.301 305762 chr3 119445070 119445070 C T rs61743329 MAATS1 Synonymous SNV R119R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 305763 chr3 119885898 119885898 A G rs368972949 GPR156 Nonsynonymous SNV L805S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 305764 chr4 83378143 83378143 A G rs200786339 ENOPH1 Nonsynonymous SNV I112V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 305765 chr11 101833725 101833725 A C CEP126 Synonymous SNV T653T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 305766 chr12 55024720 55024720 G A rs184297782 LACRT Stop gain Q125X 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 305767 chr4 8620246 8620246 A G CPZ Nonsynonymous SNV I521V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 305768 chr3 127872494 127872494 G T rs148745324 EEFSEC Synonymous SNV T48T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.83 305769 chr3 130380770 130380770 T C rs150062981 COL6A6 Synonymous SNV S2040S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.56 305770 chr5 109049459 109049459 A G rs755748485 MAN2A1 Nonsynonymous SNV H125R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.697 305771 chr3 134369680 134369680 C T rs745313504 KY Synonymous SNV L41L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 305772 chr14 31589042 31589042 G A rs767167801 HECTD1 Nonsynonymous SNV R1757C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 305773 chr5 115177182 115177182 G C rs532922384 ATG12 Nonsynonymous SNV T23R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.108 305774 chr5 115177184 115177184 A G rs771070353 ATG12 Synonymous SNV L22L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.069 305775 chr12 3747584 3747584 T A rs1044717198 CRACR2A Synonymous SNV P436P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.315 305776 chr11 113803795 113803795 T - rs764492843 HTR3B F215Lfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 305777 chr5 1201935 1201935 G A rs146608591 SLC6A19 Nonsynonymous SNV R57H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 305778 chr11 119053996 119053996 C T rs765609054 NLRX1 Nonsynonymous SNV R926W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25 305779 chr5 13891091 13891091 C T rs199667661 DNAH5 Nonsynonymous SNV M857I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.18 305780 chr12 81693137 81693137 C T rs374471080 PPFIA2 Synonymous SNV R456R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.44 305781 chr3 180397101 180397101 T G rs200225521 CCDC39 Nonsynonymous SNV E23A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.5 305782 chr3 183883215 183883215 G A rs114642851 DVL3 Synonymous SNV S233S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 305783 chr2 135890553 135890553 A G rs114901298 RAB3GAP1 Nonsynonymous SNV Y442C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.5 305784 chr5 140806216 140806216 T C rs750014647 PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.768 305785 chr5 141005808 141005808 G A rs748194002 HDAC3 Synonymous SNV L138L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.27 305786 chr5 141381615 141381615 C T rs112597637 GNPDA1 Synonymous SNV S283S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.58 305787 chr12 101005849 101005849 C T rs762390679 GAS2L3 Synonymous SNV T125T 0 0 0 1 0 0 0.003 0 0 0 0 0 17.09 305788 chr11 13427229 13427229 T C rs202219514 BTBD10 Nonsynonymous SNV Q280R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 305789 chr12 133253974 133253974 C T rs61732929 POLE Nonsynonymous SNV R259H 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 24.4 305790 chr3 196051088 196051091 TCTC - rs759322540 TM4SF19-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 305791 chr11 18503317 18503317 C T rs201826521 TSG101 Nonsynonymous SNV D315N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 305792 chr12 20803451 20803451 T C rs772918360 PDE3A Synonymous SNV L626L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.642 305793 chr11 19077455 19077455 C - rs758339940 MRGPRX2 K166Sfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 305794 chr12 109634899 109634899 G C ACACB Synonymous SNV G856G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.536 305795 chr5 156479487 156479487 C T rs115419803 HAVCR1 Synonymous SNV T186T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 305796 chr11 214342 214342 C A RIC8A Nonsynonymous SNV P530T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 305797 chr2 179447168 179447168 T A rs747951231 TTN Nonsynonymous SNV Q12940H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 305798 chr5 176516608 176516608 G A rs141355998 FGFR4 Nonsynonymous SNV R2Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.599 305799 chr11 34474729 34474729 G A rs771038065 CAT Synonymous SNV E191E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.165 305800 chr4 8229012 8229012 C T rs777186446 SH3TC1 Nonsynonymous SNV R455C 0.001 0 0 0 1 0 0 0 0 0 0 0 1.602 305801 chr15 39884912 39884912 T C THBS1 Synonymous SNV D892D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.005 305802 chr11 46797891 46797891 C T rs139594049 CKAP5 Nonsynonymous SNV A969T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 305803 chr5 182337 182337 G A rs368497309 PLEKHG4B Nonsynonymous SNV V1595I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 305804 chr4 17510969 17510969 A G QDPR Synonymous SNV D41D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.453 305805 chr15 40862082 40862082 C T rs1002936636 RPUSD2 Synonymous SNV V182V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.843 305806 chr13 76407287 76407287 C G rs200991869 LMO7 Nonsynonymous SNV A690G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 305807 chr13 94482701 94482701 G A rs143089233 GPC6 Nonsynonymous SNV R205Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 305808 chr13 103382926 103382926 G A CCDC168 Synonymous SNV H6707H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.019 305809 chr14 105818764 105818764 G A rs782278862 PACS2 Nonsynonymous SNV G86E 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 305810 chr4 57215750 57215750 T G AASDH Nonsynonymous SNV N238H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.365 305811 chr12 54718955 54718955 C T COPZ1 Nonsynonymous SNV A3V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 305812 chr5 70308458 70308458 A G rs758157516 NAIP Synonymous SNV I95I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.71 305813 chr14 36986875 36986875 - GCCCCCGCC rs577015120 NKX2-1 G241_T242insGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 305814 chr15 66996069 66996069 G A SMAD6 Nonsynonymous SNV S158N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.304 305815 chr4 80327886 80327886 T C rs147908480 GK2 Nonsynonymous SNV Q490R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 305816 chr4 86863252 86863252 G A rs36067390 ARHGAP24 Nonsynonymous SNV R49H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 305817 chr4 87705622 87705622 C G rs201695866 PTPN13 Nonsynonymous SNV A1819G 0.001 0 0 0 1 0 0 0 0 0 0 0 11 305818 chr12 47472486 47472486 A C AMIGO2 Synonymous SNV L100L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 305819 chr14 38061763 38061763 C G rs368989227 FOXA1 Nonsynonymous SNV G76R 0 0.003 0 0 0 1 0 0 0 0 0 0 32 305820 chr5 93985301 93985301 A G rs201153902 SLF1 Nonsynonymous SNV Q246R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 305821 chr5 96512888 96512888 G A rs17849382 RIOK2 Nonsynonymous SNV H144Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 305822 chr11 61017283 61017283 G A rs763566302 PGA5 Nonsynonymous SNV D306N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 305823 chr13 102345011 102345011 T A ITGBL1 Nonsynonymous SNV D223E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 305824 chr6 131277548 131277548 T C EPB41L2 Synonymous SNV K26K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.497 305825 chr11 62559361 62559361 G A TMEM223 Nonsynonymous SNV L36F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 305826 chr4 155412418 155412418 A C DCHS2 Nonsynonymous SNV D30E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 305827 chr11 639519 639519 C T rs771421901 DRD4 Synonymous SNV F124F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 305828 chr11 63991415 63991415 T C TRPT1 Nonsynonymous SNV D146G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 305829 chr11 64064691 64064691 C T rs199730514 KCNK4 Synonymous SNV V138V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 305830 chr11 6413290 6413290 C A rs202081954 SMPD1 Nonsynonymous SNV P332H 0 0 0.003 0 0 0 0 1 0 0 0 0 29 305831 chr13 21557539 21557539 C T rs536277703 LATS2 Nonsynonymous SNV R769Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 305832 chr13 22178139 22178139 G A MICU2 Nonsynonymous SNV A50V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.642 305833 chr11 64950376 64950376 G C rs17881440 CAPN1 Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.798 305834 chr4 184601384 184601384 G A rs747824372 TRAPPC11 Synonymous SNV E359E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 305835 chr11 65272597 65272598 TG - rs538343871 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 305836 chr13 28494567 28494567 G T PDX1 Nonsynonymous SNV G98W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 305837 chr14 77753129 77753129 G A rs886043974 POMT2 Synonymous SNV A430A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 11.24 305838 chr5 162959 162959 T G rs772653181 PLEKHG4B Synonymous SNV G924G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.114 305839 chr5 182326 182326 T C rs767156506 PLEKHG4B Nonsynonymous SNV I1591T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 305840 chr11 6654043 6654043 C T rs141520138 DCHS1 Synonymous SNV T900T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.14 305841 chr5 7757612 7757612 G A rs199797106 ADCY2 Synonymous SNV S669S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.937 305842 chr14 95670590 95670590 C T CLMN Nonsynonymous SNV G366S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.39 305843 chr14 91826053 91826053 T C rs199846951 CCDC88C Synonymous SNV E91E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.7 305844 chr11 71717083 71717083 G A NUMA1 Nonsynonymous SNV P1883L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 305845 chr11 71717095 71717095 C G NUMA1 Nonsynonymous SNV S1879T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 305846 chr11 73020242 73020242 C T rs766068489 ARHGEF17 Nonsynonymous SNV P187S 0 0 0.007 0 0 0 0 2 0 0 0 0 26.9 305847 chr5 38407005 38407005 C A rs371899172 EGFLAM Nonsynonymous SNV P68T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 305848 chr11 76901855 76901855 C T rs144657938 MYO7A Synonymous SNV A1288A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.5 305849 chr11 76925733 76925733 G A rs111033231 MYO7A Nonsynonymous SNV G2214S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.17 305850 chr11 76928356 76928356 G A rs115620947 GDPD4 Nonsynonymous SNV T510I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 305851 chr16 3454689 3454689 A G rs150888009 ZNF174 Synonymous SNV L222L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.189 305852 chr5 54570726 54570726 A G rs975763510 DHX29 Nonsynonymous SNV L796P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 305853 chr16 46617964 46617964 G T SHCBP1 Nonsynonymous SNV T423N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.25 305854 chr5 55407273 55407273 C A rs375196460 ANKRD55 Synonymous SNV T434T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 305855 chr6 38919221 38919221 C T DNAH8 Nonsynonymous SNV P3909S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 305856 chr5 68595882 68595883 AT - rs774470532 CCDC125 M257Vfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 305857 chr11 94341805 94341805 C T rs770380977 PIWIL4 Synonymous SNV D632D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 305858 chr6 42946216 42946216 C T PEX6 Nonsynonymous SNV V225M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 305859 chr12 104179205 104179205 A G rs759594872 NT5DC3 Synonymous SNV L413L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.893 305860 chr15 52446144 52446144 G A rs761399728 GNB5 Nonsynonymous SNV S81L 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 34 305861 chr12 10659340 10659340 G A rs199779592 EIF2S3B Nonsynonymous SNV G280D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 305862 chr6 49754015 49754015 C T rs766299030 PGK2 Nonsynonymous SNV A296T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 305863 chr6 5086762 5086762 C T rs762889706 PPP1R3G Nonsynonymous SNV T348M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 305864 chr6 51890656 51890656 G T rs150079934 PKHD1 Nonsynonymous SNV H1318N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.173 305865 chr12 109017004 109017004 G A rs762148970 SELPLG Synonymous SNV T376T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 305866 chr16 67692184 67692184 G A ACD Nonsynonymous SNV A304V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.2 305867 chr15 60734619 60734619 A G rs756987508 ICE2 Synonymous SNV Y670Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.025 305868 chr15 60789711 60789711 T C RORA Synonymous SNV P450P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.132 305869 chr5 82836241 82836241 C T rs61754536 VCAN Synonymous SNV S1486S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 6.644 305870 chr14 29237362 29237362 A C rs968922416 FOXG1 Nonsynonymous SNV T293P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 305871 chr13 32912001 32912001 C T rs80358599 BRCA2 Nonsynonymous SNV A1170V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.062 305872 chr6 80223128 80223128 C T rs144016257 LCA5 Nonsynonymous SNV R174H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 305873 chr6 80736148 80736148 A G rs2230510 TTK Synonymous SNV P436P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 305874 chr16 72822008 72822008 - TGC rs745803083 ZFHX3 Q2475_K2476insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 305875 chr7 100205089 100205089 C G PCOLCE Nonsynonymous SNV P319A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 305876 chr12 129360485 129360485 T G GLT1D1 Nonsynonymous SNV V32G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 305877 chr16 84230257 84230257 G A rs200997815 ADAD2 Nonsynonymous SNV A511T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 305878 chr5 140773791 140773791 A G rs375614946 PCDHGA8 Nonsynonymous SNV I471V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 305879 chr7 103198450 103198450 G A RELN Nonsynonymous SNV T1859I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 305880 chr12 344362 344362 T C rs562454555 SLC6A13 Nonsynonymous SNV Y150C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 305881 chr12 41961662 41961662 T A rs138003679 PDZRN4 Nonsynonymous SNV H257Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 305882 chr7 110763558 110763558 T C LRRN3 Nonsynonymous SNV Y244H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 305883 chr7 116937728 116937728 G A rs180913783 WNT2 Nonsynonymous SNV T264M 0 0 0.003 0 0 0 0 1 0 0 0 0 30 305884 chr7 123276882 123276882 G C ASB15 Nonsynonymous SNV K538N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 305885 chr5 150227712 150227712 C T rs764528929 IRGM Synonymous SNV A9A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.823 305886 chr14 94517666 94517666 G A rs552250777 DDX24 Synonymous SNV P817P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.127 305887 chr14 94674810 94674810 A C rs143912585 PPP4R4 Nonsynonymous SNV Q67H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 305888 chr7 128455923 128455923 G A rs781368989 CCDC136 Nonsynonymous SNV A1101T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.232 305889 chr12 52912837 52912837 C T rs371682500 KRT5 Synonymous SNV Q221Q 0 0 0.007 0 0 0 0 2 0 0 0 0 11.36 305890 chr7 139611027 139611027 C T rs949910074 TBXAS1 Synonymous SNV Y80Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.834 305891 chr7 140255493 140255493 G C rs201464750 DENND2A Synonymous SNV R660R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.225 305892 chr3 195965680 195965680 C T rs199831548 PCYT1A Nonsynonymous SNV R328H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 305893 chr5 172110902 172110902 A G NEURL1B Nonsynonymous SNV N171S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 305894 chr16 2124321 2124321 C A rs45517238 TSC2 Nonsynonymous SNV L626M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 305895 chr12 53670449 53670449 C T rs767240091 ESPL1 Synonymous SNV A582A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 305896 chr4 366661 366661 T G ZNF141 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.107 305897 chr12 54447934 54447934 C T rs764032536 HOXC4 Synonymous SNV G76G 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.229 305898 chr16 2836114 2836114 C T PRSS33 Nonsynonymous SNV G19R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.62 305899 chr4 1961461 1961461 C A NSD2 Synonymous SNV I1083I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 305900 chr12 57589656 57589656 C G rs138150221 LRP1 Synonymous SNV T2857T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 305901 chr5 180630580 180630580 G A rs767501827 TRIM7 Nonsynonymous SNV R195W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 305902 chr7 150935426 150935426 A G rs202149219 CHPF2 Nonsynonymous SNV I660V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 305903 chr7 151810476 151810476 A G rs73161885 GALNT11 Nonsynonymous SNV E328G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 305904 chr7 155534657 155534657 G A rs750156200 RBM33 Nonsynonymous SNV A732T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 305905 chr14 61789013 61789013 A G rs55737090 PRKCH Nonsynonymous SNV K65R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.4 305906 chr16 3274522 3274522 T C ZNF200 Synonymous SNV E185E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 305907 chr7 20824044 20824049 GCCGCC - rs759086117 SP8 G463_G464del 0 0 0.003 0 0 0 0 1 0 0 0 0 305908 chr7 23213806 23213806 C T rs142565112 KLHL7 Synonymous SNV T550T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 305909 chr16 3614399 3614399 C T rs758835680 NLRC3 Nonsynonymous SNV R180Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 305910 chr15 45954203 45954203 A G rs767592938 SQOR Synonymous SNV Q95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 305911 chr6 16145301 16145301 G A MYLIP Nonsynonymous SNV G334D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 305912 chr15 49030963 49030963 T C rs200366079 CEP152 Nonsynonymous SNV N1483S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 0.001 305913 chr15 52902003 52902003 G A rs773341629 FAM214A Nonsynonymous SNV R377W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 305914 chr15 54919033 54919033 G A rs750345422 UNC13C Nonsynonymous SNV G2123R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 305915 chr12 90015497 90015497 A G ATP2B1 Synonymous SNV I285I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.752 305916 chr16 57549340 57549340 T C rs774995317 CCDC102A Nonsynonymous SNV N479S 0 0.003 0 0 0 1 0 0 0 0 0 0 26 305917 chr13 103398757 103398757 C T rs570549323 CCDC168 Synonymous SNV A1430A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 305918 chr7 5780988 5780988 A C RNF216 Nonsynonymous SNV D220E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.654 305919 chr13 114783614 114783614 T C rs377588790 RASA3 Nonsynonymous SNV S321G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 305920 chr16 731794 731794 G A rs753255370 STUB1 Nonsynonymous SNV E104K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.4 305921 chr15 75498651 75498651 C T rs377419458 C15orf39 Synonymous SNV L88L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.065 305922 chr13 20763535 20763535 G A rs397516869 GJB2 Synonymous SNV N62N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.443 305923 chr6 42072496 42072496 C T rs745628273 C6orf132 Nonsynonymous SNV E1052K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 305924 chr13 31233280 31233280 G C rs199678704 USPL1 Nonsynonymous SNV Q693H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 305925 chr7 99526816 99526816 G A GJC3 Nonsynonymous SNV A143V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.904 305926 chr7 99690578 99690578 G T rs370572012 MCM7 Synonymous SNV R537R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 305927 chr13 42440135 42440135 G A rs148797761 VWA8 Nonsynonymous SNV A417V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 305928 chr13 42893315 42893315 G A rs978536759 AKAP11 Nonsynonymous SNV S1886N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 305929 chr16 84797699 84797699 G A rs182092186 USP10 Synonymous SNV T554T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.19 305930 chr13 45580385 45580385 T A rs750797742 GPALPP1 Nonsynonymous SNV F90L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 305931 chr8 10468742 10468742 C T RP1L1 Nonsynonymous SNV V956M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.051 305932 chr6 56919311 56919311 C T rs201306587 KIAA1586 Nonsynonymous SNV R645W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 305933 chr13 73340163 73340163 G T DIS3 Nonsynonymous SNV F516L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 305934 chr13 88329072 88329072 T C rs972150070 SLITRK5 Nonsynonymous SNV F477L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 305935 chr13 95815898 95815898 C T rs770736723 ABCC4 Nonsynonymous SNV A680T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.358 305936 chr16 89345723 89345723 C T rs746615405 ANKRD11 Synonymous SNV E2409E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.41 305937 chr6 90380643 90380643 G C rs367790031 MDN1 Nonsynonymous SNV Q4651E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 305938 chr6 99283766 99283766 G A rs200105843 POU3F2 Synonymous SNV S339S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.02 305939 chr16 1259223 1259223 G A rs370039255 CACNA1H Synonymous SNV A1185A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.286 305940 chr17 12664100 12664100 A G rs118140049 LOC100128006 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.587 305941 chr8 142367679 142367679 G A rs143818015 GPR20 Synonymous SNV G115G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.348 305942 chr6 111701339 111701339 G T rs138807869 REV3L Nonsynonymous SNV P434T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.693 305943 chr16 19883704 19883704 G A rs759310942 GPRC5B Nonsynonymous SNV T286M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 305944 chr4 169835150 169835150 T A rs182571219 PALLD Nonsynonymous SNV S175T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.03 305945 chr8 145003634 145003634 G A rs782808621 PLEC Nonsynonymous SNV P996L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.4 305946 chr14 23549797 23549797 T A rs143040721 ACIN1 Nonsynonymous SNV E267D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.223 305947 chr6 132693968 132693968 C T rs369357379 MOXD1 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 305948 chr14 24030332 24030332 A G rs561794339 LOC102724814 0 0 0.007 0 0 0 0 2 0 0 0 0 2.056 305949 chr16 28330460 28330460 A G SBK1 Nonsynonymous SNV Y124C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 305950 chr14 24679134 24679134 T G rs756403727 CHMP4A Nonsynonymous SNV K206N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 305951 chr14 24731351 24731351 C A TGM1 Nonsynonymous SNV G70C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 305952 chr17 27441099 27441099 G A rs377102525 MYO18A Nonsynonymous SNV A843V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 305953 chr8 17412142 17412142 C G rs759583736 SLC7A2 Nonsynonymous SNV L377V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 305954 chr5 5186275 5186275 G A rs377628985 ADAMTS16 Nonsynonymous SNV V292M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 305955 chr14 51101936 51101936 G A SAV1 Stop gain Q373X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 305956 chr8 23012488 23012488 C T rs372726522 TNFRSF10D Nonsynonymous SNV R52Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 305957 chr6 157099671 157099671 C T ARID1B Nonsynonymous SNV P203L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 305958 chr17 34862932 34862932 C T rs201468610 MYO19 Nonsynonymous SNV R505H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 305959 chr8 23306309 23306309 A G ENTPD4 Nonsynonymous SNV V51A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 305960 chr16 4504834 4504834 C T rs369476981 DNAJA3 Synonymous SNV S454S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 305961 chr8 2836266 2836266 T G rs201457397 CSMD1 Nonsynonymous SNV N2812H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 305962 chr14 59977363 59977363 C G CCDC175 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 305963 chr6 160998192 160998192 C T rs201013584 LPA Nonsynonymous SNV R1536K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 305964 chr16 53730098 53730098 T C rs550006406 RPGRIP1L Synonymous SNV K65K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.494 305965 chr14 68244396 68244396 G A rs151287975 ZFYVE26 Synonymous SNV L1618L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.24 305966 chr17 40475353 40475353 C G STAT3 Nonsynonymous SNV G558A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.76 305967 chr18 21743171 21743171 T C OSBPL1A Nonsynonymous SNV N429S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 305968 chr14 81609679 81609679 T G TSHR Nonsynonymous SNV L426R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 305969 chr14 91626666 91626666 C T rs10142502 DGLUCY Nonsynonymous SNV R10C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 305970 chr17 42226330 42226330 A G rs1035037095 HROB Nonsynonymous SNV T387A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.51 305971 chr16 72020369 72020369 C T rs141399030 PKD1L3 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 305972 chr17 43923897 43923897 C T rs753862379 SPPL2C Nonsynonymous SNV S542L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.01 305973 chr14 95918635 95918635 T C rs531457245 SYNE3 Nonsynonymous SNV N408S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 305974 chr17 39580285 39580285 T C rs201439644 KRT37 Nonsynonymous SNV K164R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 305975 chr9 110086289 110086289 A G rs150317045 RAD23B Synonymous SNV Q291Q 0 0 0.007 0 0 0 0 2 0 0 0 0 1.814 305976 chr9 113241989 113241989 T C SVEP1 Nonsynonymous SNV K805E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 305977 chr16 30972774 30972774 A G SETD1A Nonsynonymous SNV T145A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.53 305978 chr15 28369337 28369337 G A rs150956191 HERC2 Nonsynonymous SNV A4345V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 305979 chr15 32322916 32322916 C T CHRNA7 Nonsynonymous SNV S40F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 305980 chr17 40845479 40845479 C T rs574007745 CNTNAP1 Nonsynonymous SNV R973C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 305981 chr16 348205 348205 G A rs750617218 AXIN1 Nonsynonymous SNV P434L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.334 305982 chr16 4016223 4016223 G A rs756327580 ADCY9 Synonymous SNV R1205R 0 0 0 1 0 0 0.003 0 0 0 0 0 6.535 305983 chr16 88744941 88744941 T A SNAI3 Nonsynonymous SNV Y265F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 305984 chr15 42170730 42170730 G A rs200618526 SPTBN5 Nonsynonymous SNV R1094W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 305985 chr17 46628503 46628503 - CCGCCGCCGCCG rs766375333 HOXB3 G164_S165insGGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 305986 chr9 130495504 130495504 C T rs145839711 TOR2A Synonymous SNV P251P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.647 305987 chr16 89795717 89795717 C G rs367876536 ZNF276 Nonsynonymous SNV P387R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.8 305988 chr9 131399265 131399265 C T rs186228177 WDR34 Synonymous SNV A159A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 305989 chr19 10116769 10116769 G A COL5A3 Nonsynonymous SNV P76L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.98 305990 chr19 10201933 10201933 G A SHFL Nonsynonymous SNV R131Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 305991 chr17 72791743 72791743 G A rs139765917 TMEM104 Nonsynonymous SNV R203H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 305992 chr7 95442609 95442609 G A DYNC1I1 Nonsynonymous SNV A92T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 305993 chr7 97842110 97842110 G A rs754943764 BHLHA15 Synonymous SNV A163A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.365 305994 chr9 139272065 139272065 A T rs200211234 SNAPC4 Nonsynonymous SNV L1405H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 305995 chr15 65917729 65917729 G A rs374597851 SLC24A1 Synonymous SNV K437K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.556 305996 chr9 139903033 139903033 C T rs372853750 ABCA2 Synonymous SNV E2370E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 305997 chr9 139903285 139903285 C T ABCA2 Synonymous SNV K2322K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 305998 chr17 7605071 7605071 C T rs149828392 WRAP53 Nonsynonymous SNV R307W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 305999 chr15 79339132 79339132 C G RASGRF1 Nonsynonymous SNV K278N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 306000 chr15 83826776 83826776 T C HDGFL3 Nonsynonymous SNV K60R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 306001 chr17 78022489 78022489 G A CCDC40 Nonsynonymous SNV V262M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 306002 chr9 33246723 33246723 G A rs140712741 SPINK4 Nonsynonymous SNV R71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 306003 chr15 88472489 88472489 G A rs144852342 NTRK3 Nonsynonymous SNV A591V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 306004 chr7 107599735 107599735 G A rs749083996 LAMB1 Synonymous SNV C883C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 306005 chr6 3019900 3019900 C T rs765148956 HTATSF1P2 0.001 0 0 0 1 0 0 0 0 0 0 0 1.656 306006 chr9 74674187 74674187 G A rs139944018 C9orf57 Nonsynonymous SNV R43C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.31 306007 chr17 3920756 3920756 C T ZZEF1 Nonsynonymous SNV S2637N 0.002 0 0 0 2 0 0 0 0 0 0 0 17.34 306008 chr16 10862954 10862954 A G rs200227375 NUBP1 Nonsynonymous SNV S268G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.152 306009 chr9 90343266 90343266 T G rs139868873 CTSL Synonymous SNV S117S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.906 306010 chr16 11785234 11785234 C G TXNDC11 Nonsynonymous SNV Q152H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.723 306011 chr16 89778320 89778320 G A rs369248771 VPS9D1 Synonymous SNV Y239Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.117 306012 chr6 24466972 24466972 C T rs759598032 GPLD1 Nonsynonymous SNV D253N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 306013 chr9 92002462 92002462 G A rs758668973 SEMA4D Nonsynonymous SNV T390M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 306014 chr9 95481202 95481202 G C rs201343832 BICD2 Synonymous SNV P575P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.434 306015 chr17 7683595 7683595 A G DNAH2 Nonsynonymous SNV N1948S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.81 306016 chr9 96030039 96030039 C G rs939451105 WNK2 Nonsynonymous SNV D1236E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 306017 chr16 1396257 1396257 G A rs576948746 BAIAP3 Synonymous SNV T760T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.121 306018 chr16 16269792 16269792 C G rs932481232 ABCC6 Nonsynonymous SNV R881T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 306019 chrX 109325369 109325369 G T MIR3978 0 0 0.007 0 0 0 0 2 0 0 1 0 1.898 306020 chr17 4058038 4058038 G A rs748080113 CYB5D2 Synonymous SNV A42A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.237 306021 chr18 30903460 30903460 G T rs142817345 CCDC178 Synonymous SNV A339A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.056 306022 chrX 13645294 13645294 A G EGFL6 Nonsynonymous SNV N485D 0 0 0.007 0 0 0 0 2 0 0 1 0 13.75 306023 chr7 143053657 143053657 C T rs374651528 FAM131B Nonsynonymous SNV E263K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 306024 chr16 2125840 2125840 G A rs752865665 TSC2 Synonymous SNV A662A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.83 306025 chrX 152612939 152612939 G A rs782690134 ZNF275 Nonsynonymous SNV D266N 0 0 0.007 0 0 0 0 2 0 0 1 0 29.8 306026 chr16 23390078 23390078 A T SCNN1B Nonsynonymous SNV T486S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 306027 chr18 44113217 44113217 C T LOXHD1 Nonsynonymous SNV R221Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 306028 chr16 28986512 28986512 G C rs764305296 SPNS1 Nonsynonymous SNV D14H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 306029 chr16 29825138 29825138 G A PRRT2 Nonsynonymous SNV G255R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 306030 chrX 32481613 32481613 C T rs191164314 DMD Synonymous SNV S1117S 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 8.151 306031 chr7 150933593 150933593 G A rs143478285 CHPF2 Nonsynonymous SNV E310K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 34 306032 chr7 151046161 151046161 C T NUB1 Synonymous SNV D64D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.275 306033 chr16 3077243 3077243 C T rs772524171 THOC6 Nonsynonymous SNV R258W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 306034 chr7 151877808 151877808 C A rs767671441 KMT2C Nonsynonymous SNV E2379D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 306035 chr16 30794290 30794290 G C ZNF629 Synonymous SNV T453T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.502 306036 chr18 12274120 12274120 C T rs143077786 CIDEA Nonsynonymous SNV P120L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 306037 chr16 3119183 3119183 G A rs778372895 IL32 Nonsynonymous SNV E123K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 306038 chrX 71131146 71131146 G A NHSL2 Nonsynonymous SNV R70Q 0 0 0.007 0 0 0 0 2 0 0 1 0 7.977 306039 chr16 336446 336446 G A rs201901210 PDIA2 Nonsynonymous SNV E405K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 306040 chr16 34404135 34404135 A T rs192807560 UBE2MP1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.74 306041 chr16 3447473 3447473 T C rs748350796 ZSCAN32 Nonsynonymous SNV N29D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.758 306042 chr17 4903551 4903551 G T rs769053728 KIF1C Nonsynonymous SNV A4S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 306043 chr8 6482445 6482445 A G rs993029967 MCPH1 Synonymous SNV G827G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.555 306044 chr18 72109216 72109216 C T rs759343209 DIPK1C Nonsynonymous SNV G338R 0 0.003 0 0 0 1 0 0 0 0 0 0 28 306045 chr19 41743910 41743910 C T rs191926606 AXL Nonsynonymous SNV P14L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 306046 chr19 41759514 41759514 C T rs202051448 AXL Nonsynonymous SNV T378I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 306047 chr16 50667160 50667160 G A rs777210269 NKD1 Nonsynonymous SNV R294Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 306048 chr17 57290708 57290708 A G rs1034745278 SMG8 Nonsynonymous SNV I842V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 306049 chr6 70944497 70944497 C T rs760378269 COL9A1 Synonymous SNV P510P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.47 306050 chr10 118969238 118969238 G A rs777473803 KCNK18 Nonsynonymous SNV A195T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.394 306051 chr17 80789156 80789156 T C rs34687659 ZNF750 Nonsynonymous SNV Q392R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.446 306052 chr17 81050921 81050921 G A rs367955508 METRNL Nonsynonymous SNV R189H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 306053 chr17 38548836 38548844 CTTGCTGCT - TOP2A R1319Sfs*13 0 0 0 1 0 0 0.003 0 0 0 0 0 306054 chr19 12802010 12802010 C T rs892563041 FBXW9 Nonsynonymous SNV D285N 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 306055 chr10 124438546 124438546 C T rs753324831 LOC112577516 Synonymous SNV D132D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 306056 chr8 24348329 24348329 C T rs141560518 ADAM7 Synonymous SNV C428C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 306057 chr16 71482980 71482980 C T rs74391299 ZNF23 Synonymous SNV A258A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 306058 chr19 13050434 13050434 A T rs200105930 CALR Nonsynonymous SNV N129I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 306059 chr16 71682859 71682859 C A rs146034837 PHLPP2 Synonymous SNV R1235R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 306060 chr19 14040445 14040445 G A CC2D1A Synonymous SNV L894L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.32 306061 chr17 72353305 72353305 C T rs537000700 BTBD17 Nonsynonymous SNV A310T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.97 306062 chr10 133981607 133981607 G A rs758025094 JAKMIP3 Nonsynonymous SNV V895M 0 0 0.003 0 0 0 0 1 0 0 0 0 3.078 306063 chr17 72926410 72926410 T C OTOP2 Nonsynonymous SNV L227P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 306064 chr8 30958375 30958375 C T rs794727200 WRN Synonymous SNV L664L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.71 306065 chr17 73263944 73263944 A G rs200606186 MIF4GD Synonymous SNV R77R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.086 306066 chr10 18937453 18937455 TGT - rs752881375 NSUN6 Q65del 0 0 0.003 0 0 0 0 1 0 0 0 0 306067 chr17 41362033 41362033 G A NBR1 Synonymous SNV L947L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.156 306068 chr16 85667725 85667725 G A rs188721700 GSE1 Synonymous SNV A71A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 306069 chr19 10428406 10428406 C T rs780496917 RAVER1 Nonsynonymous SNV G678D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 306070 chr17 76488764 76488764 G A rs149646111 DNAH17 Synonymous SNV C2164C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 306071 chr10 33502498 33502498 G T NRP1 Nonsynonymous SNV P477H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 306072 chr8 103573019 103573019 C T ODF1 Synonymous SNV P220P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.803 306073 chr8 105510068 105510068 T G rs762356514 LRP12 Nonsynonymous SNV K219Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 306074 chr16 89849445 89849445 T G rs766580461 FANCA Synonymous SNV S512S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.808 306075 chr19 21131979 21131979 A G ZNF85 Nonsynonymous SNV H156R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.94 306076 chr16 929579 929579 G T LMF1 Synonymous SNV I187I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.011 306077 chr8 121061840 121061840 A G rs756121533 DEPTOR Nonsynonymous SNV N275S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 306078 chr17 1630986 1630986 G A WDR81 Synonymous SNV A911A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.568 306079 chr19 15918488 15918488 G A OR10H1 Synonymous SNV Y120Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.893 306080 chr17 19287803 19287803 C T rs769104779 MFAP4 Nonsynonymous SNV R271H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 306081 chr8 142161855 142161855 G A rs201883569 DENND3 Synonymous SNV S331S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 306082 chr19 35715780 35715780 C T FAM187B Nonsynonymous SNV C353Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.006 306083 chr19 35773520 35773520 C T HAMP Nonsynonymous SNV L14F 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24.3 306084 chr8 143618382 143618382 G C rs200667079 ADGRB1 Nonsynonymous SNV R1202P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 306085 chr7 4249769 4249769 G A rs142301919 SDK1 Synonymous SNV V325V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 306086 chr17 2227596 2227596 T C rs752262714 TSR1 Nonsynonymous SNV Y770C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 306087 chr10 73537990 73537990 C T rs774919846 CDH23 Synonymous SNV H1704H 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 15.23 306088 chr7 5780840 5780840 G A RNF216 Nonsynonymous SNV P270S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 306089 chr10 76980709 76980709 T A VDAC2 Nonsynonymous SNV F189I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 306090 chr18 28586893 28586893 C T rs749094416 DSC3 Stop gain W623X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 306091 chr8 144803756 144803756 C T MAPK15 Synonymous SNV N414N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.023 306092 chr10 81928766 81928766 G A rs144975299 ANXA11 Nonsynonymous SNV P174S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306093 chr10 88259533 88259533 C A rs774223574 WAPL Nonsynonymous SNV Q489H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 306094 chr10 94390010 94390010 T G rs200035618 KIF11 Synonymous SNV L461L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.252 306095 chr8 145170852 145170852 C - WDR97 I1536Sfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 306096 chr17 35872409 35872409 C T rs139010598 DUSP14 Nonsynonymous SNV T12I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 306097 chr7 29924113 29924113 G A WIPF3 Nonsynonymous SNV A335T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 306098 chr7 30491837 30491837 C T rs141422065 NOD1 Nonsynonymous SNV R399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 306099 chr9 5805036 5805036 C T rs546666441 ERMP1 Synonymous SNV S635S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.05 306100 chr17 7612843 7612843 C T rs779903044 EFNB3 Synonymous SNV I324I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 306101 chr17 39538406 39538406 C G KRT34 Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 306102 chr19 43026337 43026337 A G rs150626138 CEACAM1 Nonsynonymous SNV S148P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 306103 chr9 20907157 20907157 C G rs745443968 FOCAD Nonsynonymous SNV I878M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 306104 chr17 7752258 7752258 G A rs779781827 KDM6B Synonymous SNV A884A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 6.953 306105 chr17 40039435 40039435 G A rs41275675 ACLY Synonymous SNV R779R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 306106 chr17 40125759 40125759 C T rs370930907 CNP Synonymous SNV G341G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.95 306107 chr19 44501596 44501596 A G rs771790793 ZNF155 Nonsynonymous SNV I529M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.881 306108 chr17 41158985 41158985 C T rs200992217 IFI35 Synonymous SNV A7A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.37 306109 chr9 71661361 71661361 A G rs59907886 FXN Nonsynonymous SNV M76V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.003 306110 chr9 71851080 71851080 C T rs12340440 TJP2 Synonymous SNV D643D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.59 306111 chr7 73085471 73085471 G A rs199932940 VPS37D Nonsynonymous SNV R174H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 306112 chr19 40424295 40424295 G A rs143580189 FCGBP Synonymous SNV F636F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 306113 chr9 89561563 89561563 G A GAS1 Synonymous SNV R44R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.679 306114 chr11 11964230 11964230 A G rs781126825 USP47 Nonsynonymous SNV I820V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.497 306115 chr19 11144498 11144498 C T rs746219091 SMARCA4 Nonsynonymous SNV P1277L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.8 306116 chr11 120169051 120169051 C T rs546166535 POU2F3 Synonymous SNV A72A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 306117 chr17 8167211 8167211 G A rs534570709 PFAS Nonsynonymous SNV R583H 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 306118 chr19 47524942 47524942 T C rs772079029 NPAS1 Nonsynonymous SNV F66L 0 0.003 0 0 0 1 0 0 0 0 0 0 25 306119 chr11 12237815 12237815 T C rs766118290 MICAL2 Synonymous SNV F299F 0 0 0.007 0 0 0 0 2 0 0 0 0 7.102 306120 chr11 12245003 12245003 G A rs201196953 MICAL2 Nonsynonymous SNV E499K 0 0 0.007 0 0 0 0 2 0 0 0 0 19.66 306121 chr19 12187851 12187851 G T ZNF844 Nonsynonymous SNV R639I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 306122 chr17 48918011 48918011 C T rs139170526 WFIKKN2 Synonymous SNV L361L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 306123 chr9 100431142 100431142 C T rs10115149 NCBP1 Synonymous SNV D307D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 306124 chr17 49077039 49077039 C T rs2302285 SPAG9 Synonymous SNV R392R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 306125 chr17 4937586 4937586 G C rs781552117 SLC52A1 Synonymous SNV T66T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 306126 chr11 123676829 123676829 G C rs142807282 OR6M1 Nonsynonymous SNV P77A 0 0 0.007 0 0 0 0 2 0 0 0 0 22.8 306127 chr19 52888003 52888003 G T rs765855032 ZNF880 Nonsynonymous SNV R390S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 306128 chr19 52888004 52888004 - G rs774323057 ZNF880 Frameshift insertion H391Rfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 306129 chr19 52888007 52888010 AAGT - rs761732883 ZNF880 K392Ffs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 306130 chr19 52888012 52888012 - CCG rs750198157 ZNF880 F393_C394insP 0.001 0 0 0 1 0 0 0 0 0 0 0 306131 chr19 52888015 52888015 T C rs756643463 ZNF880 Synonymous SNV C394C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 306132 chr19 52888018 52888018 A T rs754264988 ZNF880 Synonymous SNV L395L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 306133 chr19 52888020 52888020 - A rs760451823 ZNF880 Frameshift insertion N397Qfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 306134 chr19 52888022 52888022 A G rs757625281 ZNF880 Nonsynonymous SNV N397D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 306135 chr17 55123862 55123862 C T RNF126P1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 306136 chr19 52888024 52888024 T - rs766536517 ZNF880 H398Ifs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 306137 chr19 52888030 52888030 T A rs80047366 ZNF880 Nonsynonymous SNV H399Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 306138 chr19 52888034 52888034 A G rs77864636 ZNF880 Nonsynonymous SNV M401V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.213 306139 chr19 52888036 52888036 G T rs79685438 ZNF880 Nonsynonymous SNV M401I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 306140 chr17 56280448 56280448 A T rs1053338877 EPX Nonsynonymous SNV N572I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 306141 chr9 108127893 108127893 G A rs770562502 SLC44A1 Nonsynonymous SNV M461I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306142 chr19 49303283 49303283 G A rs149715085 BCAT2 Synonymous SNV A70A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.787 306143 chr9 113128838 113128838 T C SVEP1 Nonsynonymous SNV K3566R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.72 306144 chr17 650831 650831 T A GEMIN4 Nonsynonymous SNV D151V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 306145 chr19 50917085 50917085 G A rs147108748 POLD1 Synonymous SNV A805A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 15.35 306146 chr19 4714309 4714309 T C DPP9 Nonsynonymous SNV T33A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 306147 chr19 51892681 51892681 A C C19orf84 Nonsynonymous SNV S40A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 306148 chr19 17717120 17717120 C T rs779007137 UNC13A Nonsynonymous SNV V1619M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 306149 chr17 72768191 72768191 C T rs142832529 NAT9, NAT9 Nonsynonymous SNV V132M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 306150 chr11 2992740 2992740 C T rs763389081 NAP1L4 Nonsynonymous SNV V114I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 306151 chr9 131150104 131150104 G A rs376894347 URM1 Nonsynonymous SNV R39Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 306152 chr17 74077777 74077777 T C ZACN Nonsynonymous SNV V274A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 306153 chr17 74163766 74163766 G T RNF157 Nonsynonymous SNV Q137K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 306154 chr7 116960722 116960722 G A rs201120939 WNT2 Nonsynonymous SNV A70V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 306155 chr17 74928792 74928792 C A MGAT5B Nonsynonymous SNV L464I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 306156 chr9 134504535 134504535 C T rs779538227 RAPGEF1 Nonsynonymous SNV A283T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 306157 chr11 47609350 47609350 G C FAM180B Nonsynonymous SNV E45Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 306158 chr9 135864505 135864505 C T rs144046935 GFI1B Nonsynonymous SNV R190W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 306159 chr19 3585664 3585664 G A rs150473323 GIPC3 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.15 306160 chr19 55914341 55914341 G C rs181108047 RPL28 Nonsynonymous SNV V119L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.364 306161 chr19 56307588 56307588 C T rs200567115 NLRP11 Nonsynonymous SNV E635K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.399 306162 chr19 10224740 10224740 G A rs374165635 P2RY11, PPAN-P2RY11 Nonsynonymous SNV A151T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.382 306163 chr9 138798865 138798865 G A rs546802887 CAMSAP1 Synonymous SNV C47C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 306164 chr17 79913364 79913364 C T NOTUM Nonsynonymous SNV V349M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 306165 chr11 4842955 4842955 C T rs199854418 OR51F2 Stop gain Q102X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 306166 chr18 23738147 23738147 A G PSMA8 Nonsynonymous SNV D139G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 306167 chr10 1230823 1230823 C T rs143420247 ADARB2 Nonsynonymous SNV R674Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 306168 chr11 5475386 5475386 G A rs746240729 OR51I2 Nonsynonymous SNV R223H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 306169 chr1 16255456 16255456 T C rs372038713 SPEN Synonymous SNV T907T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 306170 chr19 8808794 8808794 G A rs141160056 ACTL9 Synonymous SNV P86P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.645 306171 chr19 4512196 4512196 G A rs374289800 PLIN4 Synonymous SNV T592T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.445 306172 chr18 61255938 61255977 TTTGATCTTTTCAAAGAGCTGAAGAAAACAAATGATGGCA - SERPINB13 F13Tfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 306173 chr11 58125864 58125864 G A OR5B17 Nonsynonymous SNV H227Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 306174 chr18 61600410 61600410 G A rs113811051 SERPINB10 Synonymous SNV L254L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.198 306175 chr11 58919767 58919767 G A rs142722244 FAM111A Nonsynonymous SNV R209H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.456 306176 chr18 7011388 7011388 C T rs375915134 LAMA1 Nonsynonymous SNV D1200N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 306177 chr11 61290533 61290533 T C rs886341264 SYT7 Nonsynonymous SNV Q470R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.038 306178 chr1 197168502 197168502 T C ZBTB41 Nonsynonymous SNV K368E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 306179 chr1 197871998 197871998 C T rs768002836 C1orf53 Synonymous SNV T73T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 306180 chr1 198723455 198723455 G A rs527663021 PTPRC Synonymous SNV A1028A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 306181 chr19 11134301 11134301 C T rs149874634 SMARCA4 Synonymous SNV P989P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.21 306182 chr1 202992045 202992045 C T rs199954982 TMEM183A Nonsynonymous SNV P333S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 306183 chr19 5032934 5032934 C T rs368489068 KDM4B Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 306184 chr19 11517472 11517472 G A rs746648034 RGL3 Nonsynonymous SNV L236F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 306185 chr1 115221088 115221088 T C rs376193713 AMPD1 Nonsynonymous SNV K349E 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 306186 chr19 12848342 12848342 G T rs138730527 GET3 Nonsynonymous SNV W8L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 306187 chr10 73550052 73550052 T C rs373457993 CDH23 Synonymous SNV P1977P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.215 306188 chr11 68197093 68197093 G T rs571212778 LRP5 Nonsynonymous SNV A649S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 306189 chr19 5273472 5273472 G C rs143349753 PTPRS Synonymous SNV A120A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.714 306190 chr19 1584542 1584542 G T MBD3 Synonymous SNV R135R 0 0 0.003 0 0 0 0 1 0 0 0 0 9 306191 chr19 1584543 1584543 C T MBD3 Nonsynonymous SNV R135H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 306192 chr10 95372685 95372685 C T rs62642544 PDE6C Nonsynonymous SNV T68I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.749 306193 chr11 74336532 74336532 G A rs371066786 POLD3 Synonymous SNV T232T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 306194 chr1 114377610 114377610 C A rs138223016 PTPN22 Nonsynonymous SNV A551S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.546 306195 chr1 114377611 114377611 A G rs554195846 PTPN22 Synonymous SNV T550T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.768 306196 chr10 101552081 101552081 C T rs529588584 ABCC2 Stop gain R100X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 306197 chr19 1912466 1912466 C G ADAT3 Nonsynonymous SNV F124L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 306198 chr19 1912887 1912887 G C rs781430687 ADAT3 Nonsynonymous SNV V265L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.968 306199 chr19 19646467 19646467 G A rs200227282 YJEFN3 Nonsynonymous SNV V175M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 306200 chr19 20228737 20228737 T G rs16996687 ZNF90 Nonsynonymous SNV V125G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 306201 chr19 20229169 20229169 C T rs61998208 ZNF90 Nonsynonymous SNV S269F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 306202 chr19 2039753 2039753 C T rs139135189 MKNK2 Synonymous SNV A419A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 306203 chr19 2248286 2248286 T C SF3A2 Nonsynonymous SNV V379A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 306204 chr19 55944573 55944573 G C SHISA7 Nonsynonymous SNV H523D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.93 306205 chr19 2852562 2852562 A G rs766648525 ZNF555 Nonsynonymous SNV T166A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.231 306206 chr19 2852882 2852883 AC - rs756789200 ZNF555 T274Nfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 306207 chr10 112771393 112771393 G C SHOC2 Synonymous SNV L476L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.872 306208 chr10 115380391 115380391 G T rs763519063 NRAP Nonsynonymous SNV A913E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 306209 chr10 115991251 115991251 C G TDRD1 Nonsynonymous SNV A1182G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 306210 chr1 230979613 230979613 T C rs369108840 C1orf198 Synonymous SNV L8L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.434 306211 chr12 101779435 101779435 T C rs149160478 UTP20 Synonymous SNV L2711L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.534 306212 chr1 160206934 160206934 C T rs954409145 DCAF8 Nonsynonymous SNV R317H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 306213 chr10 121658165 121658165 G A rs201913734 SEC23IP Synonymous SNV S130S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.308 306214 chr12 108985600 108985600 G C TMEM119 Nonsynonymous SNV T187S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.604 306215 chr19 37045591 37045591 G A ZNF529 Synonymous SNV Y54Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.32 306216 chr10 127486689 127486689 T C rs199603635 UROS Synonymous SNV L140L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.594 306217 chr12 113400607 113400607 G A rs201723513 OAS3 Nonsynonymous SNV V662M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 306218 chr9 21141266 21141266 T C IFNW1 Nonsynonymous SNV M102V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.122 306219 chr19 40424049 40424049 G A rs769780755 FCGBP Synonymous SNV L718L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.461 306220 chr12 126004147 126004147 C T rs368726520 TMEM132B Synonymous SNV F423F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 306221 chr19 41892573 41892573 G A rs35219501 EXOSC5 Nonsynonymous SNV R225W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306222 chr19 41932112 41932112 G A rs138486322 B3GNT8 Nonsynonymous SNV A191V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 306223 chr19 41932614 41932614 C T rs138453114 B3GNT8 Nonsynonymous SNV E24K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 306224 chr12 130015639 130015639 G A TMEM132D Synonymous SNV I360I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 306225 chr1 158815410 158815410 G A rs201321344 MNDA Nonsynonymous SNV A202T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 306226 chr12 13102939 13102939 G A rs757709471 GPRC5D Nonsynonymous SNV T127M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.674 306227 chr19 42133320 42133320 G C rs144781407 CEACAM4 Synonymous SNV P4P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 306228 chr19 42190871 42190871 T C rs113395236 CEACAM7 Nonsynonymous SNV N116D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 306229 chr1 182440421 182440423 GAT - rs761572121 RGSL1 M104del 0 0.003 0 0 0 1 0 0 0 0 0 0 306230 chr1 182856561 182856561 G A rs370209545 DHX9 Nonsynonymous SNV G1269S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 306231 chr12 14959089 14959089 C T rs61732281 SMCO3 Nonsynonymous SNV V176I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.398 306232 chr12 14959334 14959334 G A SMCO3 Nonsynonymous SNV T94I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 306233 chr19 44418360 44418360 G T rs199962565 ZNF45 Nonsynonymous SNV H410N 0 0 0.003 0 0 0 0 1 0 0 0 0 27 306234 chr12 14993909 14993909 C A rs28362797 ART4 Nonsynonymous SNV G108V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 306235 chr12 15073952 15073952 C T rs35042193 ERP27 Nonsynonymous SNV E21K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 306236 chr1 16559403 16559403 G A rs114975486 CPLANE2 Synonymous SNV F125F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 306237 chr12 2777939 2777939 T C CACNA1C-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 6.573 306238 chr19 45648121 45648121 C G PPP1R37 Nonsynonymous SNV Q333E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 306239 chr1 169941672 169941672 A G rs754419100 KIFAP3 Synonymous SNV N611N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.772 306240 chr12 335565 335565 C T SLC6A13 Nonsynonymous SNV A259T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 306241 chr1 32479910 32479910 C T KHDRBS1 Nonsynonymous SNV P105L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 306242 chr12 41582572 41582572 C T rs759784932 PDZRN4 Synonymous SNV D105D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 306243 chr1 10396790 10396790 A G rs751434716 KIF1B Nonsynonymous SNV Y994C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 306244 chr1 110033947 110033947 G C ATXN7L2 Nonsynonymous SNV E620Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 306245 chr1 111061061 111061061 T C rs140343405 KCNA10 Nonsynonymous SNV K117E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 306246 chr11 3041474 3041474 C T rs375833170 CARS1 Synonymous SNV P331P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.41 306247 chr1 206902386 206902386 C T rs782742183 MAPKAPK2 Synonymous SNV D142D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.79 306248 chr1 207196324 207196324 G T rs775174255 C1orf116 Nonsynonymous SNV P16H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 306249 chr12 52188369 52188369 A G SCN8A Nonsynonymous SNV Y1539C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 306250 chr1 117249204 117249204 T C rs773535463 C1orf137 0.001 0 0 0 1 0 0 0 0 0 0 0 4.19 306251 chr12 53693620 53693620 C T rs145904512 C12orf10 Synonymous SNV P33P 0 0 0.007 0 0 0 0 2 0 0 0 0 11.77 306252 chr12 542383 542383 C T rs769902236 CCDC77 Nonsynonymous SNV S207F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 306253 chr11 5411550 5411550 A C OR51M1 Nonsynonymous SNV T308P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 306254 chr12 56117812 56117812 G T rs62638191 RDH5 Nonsynonymous SNV G238W 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 32 306255 chr19 55417557 55417557 A G NCR1 Synonymous SNV T4T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 306256 chr19 55508703 55508703 C T rs370251509 NLRP2 Synonymous SNV I944I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 306257 chr12 80707343 80707343 A G rs761161964 OTOGL Nonsynonymous SNV I1171V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 306258 chr9 139301658 139301658 G A rs199971666 ENTR1 Nonsynonymous SNV A180V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 306259 chr19 56056207 56056207 C T rs754859345 SBK3 Nonsynonymous SNV G52S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 306260 chr12 80935538 80935538 A T rs1045584015 PTPRQ Nonsynonymous SNV D948V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 306261 chr12 9006786 9006786 A G A2ML1 Nonsynonymous SNV K394E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 306262 chr1 22174309 22174309 C T HSPG2 Nonsynonymous SNV R2634K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 306263 chr11 11394122 11394122 G A rs761747627 GALNT18 Synonymous SNV I344I 0.001 0 0 0 1 0 0 0 0 0 0 0 14 306264 chr13 103343255 103343255 C T rs760769841 METTL21C Nonsynonymous SNV A64T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.3 306265 chr13 108861512 108861512 G A LIG4 Nonsynonymous SNV A702V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 306266 chr11 17580707 17580707 C T OTOG Synonymous SNV C416C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 306267 chr11 19246280 19246280 A G E2F8 Synonymous SNV G843G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.474 306268 chr19 7987626 7987626 C T rs200311387 SNAPC2 Nonsynonymous SNV R328W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 306269 chr1 117576563 117576563 T C rs748299912 CD101 Nonsynonymous SNV L969P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.41 306270 chr19 8976760 8976760 G A rs780740768 MUC16 Synonymous SNV T14102T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.908 306271 chr13 42876651 42876651 T A AKAP11 Nonsynonymous SNV C1257S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306272 chr1 27175128 27175128 C A rs766898248 ZDHHC18 Nonsynonymous SNV P176T 0 0.003 0 0 0 1 0 0 0 0 0 0 31 306273 chr1 28285188 28285188 G A SMPDL3B Nonsynonymous SNV G197R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.052 306274 chr19 9362003 9362003 C T rs189048442 OR7E24 Nonsynonymous SNV T95M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.08 306275 chr20 34092144 34092144 C T rs1013360865 CEP250 Nonsynonymous SNV H1351Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.3 306276 chr13 77531530 77531530 G A rs138681467 ACOD1 Nonsynonymous SNV A286T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 306277 chr1 24416137 24416137 G A MYOM3 Nonsynonymous SNV S502L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.693 306278 chr20 37174925 37174925 T G rs760851399 RALGAPB Synonymous SNV G918G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 306279 chr1 110280815 110280815 T - rs780096833 GSTM3 0 0 0.003 0 0 0 0 1 0 0 0 0 306280 chr10 50818834 50818834 G C rs905078385 SLC18A3 Nonsynonymous SNV K16N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.87 306281 chr1 111740564 111740564 A G rs775615483 DENND2D Nonsynonymous SNV I132T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 306282 chr1 45267395 45267395 C T rs142337193 PLK3 Synonymous SNV R179R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.67 306283 chr1 120436857 120436857 A C ADAM30 Synonymous SNV L701L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 306284 chr1 205073135 205073135 G A rs781455379 RBBP5 Synonymous SNV L124L 0.002 0 0 1 2 0 0.003 0 0 0 0 0 13.24 306285 chr1 1342589 1342589 G A MRPL20 Synonymous SNV F3F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.533 306286 chr14 22038407 22038407 C T rs770623739 OR10G3 Nonsynonymous SNV G157R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 306287 chr10 75526858 75526858 C T SEC24C Nonsynonymous SNV P647L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 306288 chr10 78787590 78787590 C T rs80266334 KCNMA1 Nonsynonymous SNV R586Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24 306289 chr1 150256261 150256261 A G rs782677729 CIART Nonsynonymous SNV N138S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 306290 chr1 150484979 150484979 T C rs768183617 ECM1 Nonsynonymous SNV I287T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 306291 chr14 31762800 31762800 C T rs747860210 HEATR5A Nonsynonymous SNV C1951Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25 306292 chr1 152325069 152325069 G A FLG2 Synonymous SNV Y1731Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.302 306293 chr1 161160956 161160956 C T rs149404061 ADAMTS4 Nonsynonymous SNV R829Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26 306294 chr20 62165059 62165059 T C PTK6 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 306295 chr20 742446 742446 G T rs772652109 SLC52A3 Nonsynonymous SNV L366I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.724 306296 chr14 57700742 57700742 G C rs761116207 EXOC5 Synonymous SNV S226S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.75 306297 chr1 156737807 156737807 C G rs200950423 PRCC Nonsynonymous SNV P82A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.466 306298 chr1 74929146 74929146 C A rs147004026 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV A678D 0 0.003 0 0 0 1 0 0 0 0 0 0 34 306299 chr1 158061294 158061294 C T rs140279613 KIRREL1 Synonymous SNV T373T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 306300 chr1 228289140 228289140 T C C1orf35 Nonsynonymous SNV K190E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 306301 chr1 44446813 44446813 G T rs748611876 B4GALT2 Nonsynonymous SNV G23V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 306302 chr1 45272084 45272084 G - TCTEX1D4 P86Lfs*167 0.001 0 0 0 1 0 0 0 0 0 0 0 306303 chr1 158596008 158596008 A G rs200330662 SPTA1 Synonymous SNV D1946D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.664 306304 chr14 67847412 67847412 A C EIF2S1 Nonsynonymous SNV E170D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 306305 chr14 69908802 69908802 A G rs115579952 SLC39A9 Synonymous SNV A74A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.597 306306 chr1 50887120 50887120 G T DMRTA2 Nonsynonymous SNV A30E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 306307 chr14 70883656 70883656 C T rs4356408 SYNJ2BP, SYNJ2BP-COX16 Nonsynonymous SNV V9I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 306308 chr11 65167292 65167292 A G rs140066865 FRMD8 Nonsynonymous SNV S241G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 306309 chr14 73717646 73717646 C T rs199904190 PAPLN Nonsynonymous SNV S166F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 306310 chr1 230846385 230846385 G A rs112711075 AGT Nonsynonymous SNV P71L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.483 306311 chr1 231339620 231339620 C T rs185696009 TRIM67 Synonymous SNV P514P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.48 306312 chr1 231408059 231408059 G A rs147247931 GNPAT Synonymous SNV E447E 0.002 0 0 0 2 0 0 0 0 0 0 0 14.56 306313 chr14 75018993 75018993 C A rs143214774 LTBP2 Synonymous SNV P432P 0 0 0.003 0 0 0 0 1 0 0 0 0 21 306314 chr11 67018249 67018249 G A rs373146142 KDM2A Synonymous SNV V477V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.028 306315 chr14 77873124 77873124 T C rs770593510 NOXRED1 Nonsynonymous SNV I209V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306316 chr1 169823879 169823879 - TCT rs773017990 SCYL3 E513_S514insE 0 0 0.003 0 0 0 0 1 0 0 0 0 306317 chr21 46703395 46703395 C T rs149544156 POFUT2 Nonsynonymous SNV A144T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.95 306318 chr14 92583927 92583927 T A rs149760197 NDUFB1 Nonsynonymous SNV M19L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.488 306319 chr14 95574748 95574748 A G rs764003983 DICER1 Synonymous SNV D783D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.129 306320 chr1 178834664 178834664 A C ANGPTL1 Nonsynonymous SNV M83R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 306321 chr11 78467917 78467917 G A rs765696833 TENM4 Nonsynonymous SNV R897C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 306322 chr1 182026718 182026718 T - ZNF648 D143Afs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 306323 chr1 183201465 183201465 C T rs754354558 LAMC2 Synonymous SNV A667A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 306324 chr20 2996530 2996530 A G rs772413628 PTPRA Synonymous SNV Q305Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 306325 chr15 32976858 32976858 C T ARHGAP11A-SCG5, SCG5 Synonymous SNV G159G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 306326 chr11 100999406 100999406 G T rs757216170 PGR Synonymous SNV P132P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.69 306327 chr20 31756984 31756984 C T rs771075584 BPIFA2 Synonymous SNV C11C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.264 306328 chr1 19201071 19201071 C T rs150916561 ALDH4A1 Nonsynonymous SNV V438I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.015 306329 chr1 27121505 27121505 A G rs142884955 PIGV Nonsynonymous SNV N327S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 306330 chr20 34207654 34207654 G T SPAG4 Nonsynonymous SNV D278Y 0 0.003 0 0 0 1 0 0 0 0 0 0 31 306331 chr20 34242511 34242511 G A rs747801395 RBM12 Nonsynonymous SNV P245L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 306332 chr15 42058476 42058476 C T rs572577876 MGA Synonymous SNV D2523D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 306333 chr15 42129066 42129066 C T JMJD7 Nonsynonymous SNV R264W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 306334 chr1 9777669 9777669 C T rs28730671 PIK3CD Synonymous SNV A306A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.2 306335 chr1 9780196 9780196 A G rs28730674 PIK3CD Nonsynonymous SNV T427A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.08 306336 chr1 9833335 9833335 A T rs1129358 CLSTN1 Nonsynonymous SNV F70Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.382 306337 chr15 43643990 43643990 G A rs184545237 ADAL Synonymous SNV E278E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 306338 chr15 43820466 43820466 G A rs373115035 MAP1A Synonymous SNV T2265T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.841 306339 chr15 49292046 49292046 T C rs779122622 SECISBP2L Nonsynonymous SNV N751S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 306340 chr1 203008304 203008304 C T rs750215955 PPFIA4 Synonymous SNV S56S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 306341 chr15 50646783 50646783 C T rs8552 GABPB1-AS1, GABPB1-IT1 0 0 0.01 0 0 0 0 3 0 0 0 0 12.53 306342 chr20 44334541 44334541 C A WFDC13 Nonsynonymous SNV N93K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 306343 chr20 44334542 44334542 T G WFDC13 X94G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.897 306344 chr11 1093434 1093434 C T rs12786901 MUC2 Synonymous SNV T1751T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.119 306345 chr15 55522666 55522666 G A rs201284258 RAB27A Nonsynonymous SNV P58S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 306346 chr11 118277779 118277779 T C rs551867454 ATP5MG Synonymous SNV A60A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.804 306347 chr15 60649376 60649376 C T rs150459759 ANXA2 Synonymous SNV E157E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 306348 chr1 207075389 207075389 T G IL24 Nonsynonymous SNV F52V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 306349 chr20 5282712 5282712 C T rs778301898 PROKR2 Nonsynonymous SNV E377K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 306350 chr1 210573901 210573901 C T HHAT Synonymous SNV T122T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 306351 chr15 67664805 67664805 G A rs201710273 IQCH Synonymous SNV S118S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 306352 chr1 43738738 43738738 C T rs61736069 TMEM125 Synonymous SNV L115L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 306353 chr11 4107736 4107736 C T rs149456514 STIM1 Nonsynonymous SNV R502C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 306354 chr1 44424483 44424483 A G rs34228830 IPO13 Synonymous SNV T650T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.186 306355 chr1 44456012 44456012 C T rs79144559 B4GALT2 Synonymous SNV D337D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 306356 chr1 44467245 44467245 G A rs200941888 SLC6A9 Synonymous SNV F274F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 306357 chr11 125889586 125889586 T A rs780474749 CDON Nonsynonymous SNV R142W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.2 306358 chr1 45811603 45811603 G A rs202078785 TESK2 Nonsynonymous SNV R232C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 306359 chr1 231473112 231473112 G C rs750285087 EXOC8 Nonsynonymous SNV A127G 0 0 0 1 0 0 0.003 0 0 0 0 0 11.93 306360 chr15 76552057 76552057 T C TYRO3P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.277 306361 chr15 76630255 76630255 G A ISL2 Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.04 306362 chr1 234614462 234614462 C G rs570176833 TARBP1 Nonsynonymous SNV A130P 0.001 0 0 2 1 0 0.005 0 0 0 0 0 23.1 306363 chr1 234534201 234534201 C T rs371450065 TARBP1 Synonymous SNV A1390A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 306364 chr15 91454736 91454736 G A rs140205654 MAN2A2 Nonsynonymous SNV A689T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 306365 chr1 237754031 237754031 T C rs772739688 RYR2 Nonsynonymous SNV M1300T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.075 306366 chr20 17595452 17595452 T C rs370770385 RRBP1 Nonsynonymous SNV K1375R 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 21.5 306367 chr1 237791224 237791224 T C rs142498105 RYR2 Nonsynonymous SNV I2095T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.1 306368 chr15 93563303 93563303 A T CHD2 Synonymous SNV P1656P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.439 306369 chr21 33727777 33727777 A G URB1 Nonsynonymous SNV V696A 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 306370 chr12 13240954 13240954 A G GSG1 Nonsynonymous SNV I151T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 306371 chr12 14947542 14947542 C T rs201019682 WBP11 Nonsynonymous SNV R217H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 306372 chr11 11373664 11373664 C A rs771189314 CSNK2A3 Nonsynonymous SNV G335C 0.002 0 0 0 2 0 0 0 0 0 0 0 24 306373 chr16 1497540 1497540 C G rs1000952334 CLCN7 Synonymous SNV L677L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.93 306374 chr16 18805923 18805923 A G ARL6IP1 Nonsynonymous SNV I135T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 306375 chr21 44180449 44180449 C T rs142443164 PDE9A Synonymous SNV H86H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 306376 chr1 89662883 89662883 T C GBP4 Nonsynonymous SNV I49V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 306377 chr16 2014292 2014292 G A rs140539932 RPS2 Synonymous SNV F84F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.475 306378 chr16 2294529 2294529 C T rs375300423 ECI1 Nonsynonymous SNV G107S 0 0 0.003 0 0 0 0 1 0 0 0 0 29 306379 chr16 2580531 2580531 C G rs189095388 AMDHD2, CEMP1 Nonsynonymous SNV V182L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.479 306380 chr1 27877496 27877496 C T AHDC1 Synonymous SNV E377E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.793 306381 chr2 160204135 160204135 T A BAZ2B Nonsynonymous SNV E1736D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 306382 chr16 2816982 2816982 A G rs755886943 SRRM2 Synonymous SNV Q2151Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 306383 chr20 44330802 44330802 T C WFDC13 Nonsynonymous SNV C14R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 306384 chr1 33059310 33059310 T C rs148974909 ZBTB8A Nonsynonymous SNV Y260H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 306385 chr12 49420055 49420055 T C rs199593058 KMT2D Nonsynonymous SNV I5232V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.2 306386 chr1 3329302 3329302 G A PRDM16 Nonsynonymous SNV M847I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 306387 chr16 30199054 30199054 G T rs748379111 CORO1A Synonymous SNV L255L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.938 306388 chr16 30387206 30387206 C T MYLPF Synonymous SNV D23D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.785 306389 chr2 170505795 170505795 G C rs61754930 CCDC173 Nonsynonymous SNV A405G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 18.98 306390 chr1 36787926 36787926 C T rs756789034 EVA1B Synonymous SNV T156T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.77 306391 chr12 51856156 51856156 G A rs762860652 SLC4A8 Synonymous SNV E388E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 306392 chr16 31926483 31926486 AGTC - rs572028948 ZNF267 Q306Hfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 306393 chr16 335125 335125 T C rs372270429 PDIA2 Synonymous SNV L240L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 306394 chr16 335175 335175 G A rs369322100 PDIA2 Nonsynonymous SNV R257H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.54 306395 chr16 3534763 3534763 G A rs200257606 NAA60 Nonsynonymous SNV V105I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.212 306396 chr16 3820650 3820650 A G CREBBP Nonsynonymous SNV V896A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.338 306397 chr1 41847471 41847473 AAG - FOXO6 K202_L493delinsQLQAPERSPDDSSPSAPAPGPVPAAAKWAASPASHASDDYEAWADFRGGGRPLLGEAAELEDDEALEALAPSSPLMYPSPASALSPALGSRCPGELPRLAELGGPLGLHGGGGAGLPEGLLDGAQDAYGPRARAQARPGAGCAGGAGAGGRSRRLPRQRGGPVRAARALAQCLSPPHQPYDAARRGGRRGPGTAGPRRRLRGPARRPPAGRSAGALRCRRRRAAGRRARPLPGRPGPRHVQREPRVRRGVHHPQRLHGQRRNGLQLRFGPASAAAGPGRGPAPQPELGAGLRAASRLRAPRPVPRGPLSSHPDSRVPAPDSSSPGGGPSPARDPSRRPAAGEGEGGAGAPHCSCPHS* 0 0 0.003 0 0 0 0 1 0 0 0 0 306398 chr20 23334975 23334975 G A rs372416188 NXT1 Synonymous SNV V99V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 306399 chr1 44057089 44057089 A C PTPRF Nonsynonymous SNV N466H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 306400 chr1 44057090 44057090 A C PTPRF Nonsynonymous SNV N466T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 306401 chr20 60908459 60908459 G A LAMA5 Nonsynonymous SNV R1034C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 23.3 306402 chr16 57687131 57687131 C T rs113005540 ADGRG1 Synonymous SNV A173A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.55 306403 chr16 57741559 57741559 T A rs769230926 DRC7 Nonsynonymous SNV I284N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 306404 chr16 57789052 57789052 C T KATNB1 Nonsynonymous SNV P440S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 306405 chr16 58301462 58301462 T C rs757307503 CCDC113 Nonsynonymous SNV I234T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 306406 chr1 53905628 53905628 C T SLC25A3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.67 306407 chr12 56622845 56622845 G A rs756410440 NABP2 Nonsynonymous SNV G162S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 306408 chr16 67429107 67429107 G C ZDHHC1 Nonsynonymous SNV P363A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 306409 chr22 40081906 40081906 G A rs947124347 CACNA1I Synonymous SNV R2021R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.962 306410 chr20 35414897 35414897 G C rs374486778 SOGA1 Synonymous SNV P1659P 0.002 0 0 0 2 0 0 0 0 0 0 0 7.011 306411 chr1 6027409 6027409 T C rs199897869 NPHP4 Nonsynonymous SNV H156R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.9 306412 chr22 37471179 37471179 C T rs776737568 TMPRSS6 Synonymous SNV S446S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.23 306413 chr12 65445136 65445136 A C rs773256390 WIF1 Nonsynonymous SNV I378S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 306414 chr12 68717003 68717003 G A rs761157892 MDM1 Synonymous SNV S172S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.413 306415 chr12 69233376 69233376 A T rs201788800 MDM2 Nonsynonymous SNV Q212L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 306416 chr16 77327118 77327119 TC - rs752422457 ADAMTS18 E843Tfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 306417 chr16 77327120 77327120 - AC rs760193459 ADAMTS18 Frameshift insertion E843Lfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 306418 chr20 44463023 44463037 GACGAGGACGACGAG - rs761567050 SNX21 D74_E78del 0.001 0 0 0 1 0 0 0 0 0 0 0 306419 chr20 44527687 44527687 C T PLTP Nonsynonymous SNV G364R 0.001 0 0 0 1 0 0 0 0 0 0 0 35 306420 chr12 80199418 80199418 T C PPP1R12A Nonsynonymous SNV T596A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 306421 chr2 202957801 202957801 C T KIAA2012 Nonsynonymous SNV P193L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 306422 chr20 45174440 45174440 G T rs769703879 OCSTAMP Nonsynonymous SNV D191E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.078 306423 chr20 46275840 46275840 G A NCOA3 Synonymous SNV Q1092Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.661 306424 chr12 81051835 81051835 A G rs1016217405 PTPRQ Nonsynonymous SNV I1891V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.871 306425 chr16 87344849 87344849 G A rs899360354 C16orf95 Synonymous SNV C128C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.266 306426 chr1 89735134 89735134 C G rs150964952 GBP5 Synonymous SNV T35T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.049 306427 chr2 21234693 21234693 T G APOB Nonsynonymous SNV K1683Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 306428 chr12 104328005 104328005 A G rs567564451 HSP90B1 Nonsynonymous SNV N228S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 306429 chr2 216226343 216226343 T C FN1 Nonsynonymous SNV N2251D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 306430 chr2 216259308 216259308 C T FN1 Nonsynonymous SNV V1247I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 306431 chr11 60785321 60785321 C T rs781334224 CD6 Nonsynonymous SNV P526L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.896 306432 chr16 89293818 89293818 C A ZNF778 Stop gain C346X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306433 chr12 109042509 109042509 C T rs757883118 CORO1C Nonsynonymous SNV G446R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 306434 chr12 109665211 109665211 A C ACACB Nonsynonymous SNV L1306F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 306435 chr12 109874311 109874311 C T rs760241983 MYO1H Nonsynonymous SNV T704I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.43 306436 chr17 10243657 10243657 C T rs754650761 MYH13 Synonymous SNV S652S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 306437 chr20 10385908 10385908 T C MKKS Nonsynonymous SNV E567G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 306438 chr17 11835374 11835374 T C rs200168509 DNAH9 Nonsynonymous SNV I362T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 306439 chr12 113759119 113759119 C A SLC8B1 Nonsynonymous SNV R64L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 306440 chr17 1578506 1578506 G T rs376110948 PRPF8 Synonymous SNV I1000I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.89 306441 chr20 1552423 1552423 T C rs150708972 SIRPB1 Nonsynonymous SNV I232V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306442 chr20 1552424 1552424 G A rs560065824 SIRPB1 Synonymous SNV H231H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 306443 chr12 120156130 120156130 C T rs571765841 CIT Nonsynonymous SNV R1321Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 24.1 306444 chr20 1552432 1552432 T C rs144028465 SIRPB1 Nonsynonymous SNV I229V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 306445 chr20 1552528 1552528 C T rs140374707 SIRPB1 Nonsynonymous SNV V197M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 306446 chr11 64853957 64853957 T C rs370447515 ZFPL1 Synonymous SNV Y95Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.477 306447 chr17 18054500 18054500 C T rs201119351 MYO15A Nonsynonymous SNV T2517I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 8.937 306448 chr12 123794097 123794097 C T rs142553809 SBNO1 Nonsynonymous SNV S1159N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 306449 chr2 230127513 230127513 C A PID1 Nonsynonymous SNV R3S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.111 306450 chr2 11905777 11905777 G A rs774490262 LPIN1 Nonsynonymous SNV R37H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 29.7 306451 chr2 121747780 121747780 G C GLI2 Nonsynonymous SNV Q1288H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 306452 chr22 26114220 26114220 C T rs55908187 GRK3 Synonymous SNV L442L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 8.28 306453 chr17 2203700 2203700 C T rs143612665 SMG6 Nonsynonymous SNV R116Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 306454 chr17 2596086 2596086 G T rs776235025 CLUH Synonymous SNV T1100T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.763 306455 chr17 27033733 27033733 A T rs1034087453 PROCA1 Nonsynonymous SNV V21E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 306456 chr17 31260300 31260300 T C rs199679288 TMEM98 Synonymous SNV N80N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 306457 chr2 152108088 152108088 T - rs759348181 RBM43 I136Sfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 306458 chr13 24330750 24330750 C T rs565660000 MIPEP Nonsynonymous SNV G660R 0.001 0 0 0 1 0 0 0 0 0 0 0 35 306459 chr17 3599399 3599399 C T rs967938523 P2RX5-TAX1BP3 0 0 0.003 0 0 0 0 1 0 0 0 0 8.695 306460 chr22 36863923 36863923 G A rs763307626 TXN2 Synonymous SNV D143D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 306461 chr22 37209785 37209785 C G rs377350741 PVALB Nonsynonymous SNV G70A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.61 306462 chr20 42574588 42574588 G A rs766297373 TOX2 Synonymous SNV A12A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 306463 chr17 37009214 37009214 T C rs770356733 SNORA21 0 0 0.003 0 0 0 0 1 0 0 0 0 4.472 306464 chr22 37414249 37414249 C G TST Nonsynonymous SNV K175N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 306465 chr13 33017554 33017554 C T N4BP2L2 Nonsynonymous SNV D359N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 306466 chr17 38179524 38179524 - G rs746303506 MED24 Frameshift insertion K691Qfs*30 0 0 0.003 0 0 0 0 1 0 0 0 0 306467 chr2 166773796 166773796 T C rs77106136 TTC21B Nonsynonymous SNV I624V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.022 306468 chr17 38497610 38497610 G A RARA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 306469 chr17 38640742 38640742 G A rs267604851 TNS4 Stop gain R499X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306470 chr21 45390641 45390641 G A rs116053971 AGPAT3 Synonymous SNV P206P 0.002 0 0 0 2 0 0 0 0 0 0 0 2.963 306471 chr17 39637035 39637035 G A rs747740969 KRT35 Synonymous SNV N105N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 306472 chr20 56728671 56728671 C T rs138257522 C20orf85 Nonsynonymous SNV P47L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 306473 chr11 112131049 112131049 C T rs979360501 LOC100132686 0.001 0 0 0 1 0 0 0 0 0 0 0 4.887 306474 chr13 103343230 103343230 C T METTL21C Nonsynonymous SNV R72Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 306475 chr20 6093189 6093189 T C rs138019177 FERMT1 Nonsynonymous SNV N156S 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 7.079 306476 chr17 42328593 42328593 G A SLC4A1 Synonymous SNV L863L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 306477 chr2 186661176 186661176 G C rs73045076 FSIP2 Nonsynonymous SNV E3105Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 306478 chr20 62594764 62594764 G A rs765552673 ZNF512B Synonymous SNV G576G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.519 306479 chr13 113219461 113219461 T C TUBGCP3 Synonymous SNV A72A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.756 306480 chr22 26164516 26164516 G A rs200084480 MYO18B Synonymous SNV P211P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.764 306481 chr20 62194806 62194806 C T HELZ2 Nonsynonymous SNV G1221D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 306482 chr13 113772982 113772982 C T rs36209567 F7 Nonsynonymous SNV A270V 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 24.8 306483 chr2 196866436 196866436 G A rs1025250057 DNAH7 Nonsynonymous SNV S379F 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 306484 chr13 114009660 114009660 C G rs750397076 GRTP1 Nonsynonymous SNV R106S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.094 306485 chr13 114061116 114061116 C T LOC101928841 Synonymous SNV S463S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.275 306486 chr21 31797925 31797925 A C KRTAP13-3 Nonsynonymous SNV F102L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.763 306487 chr21 32595752 32595752 T A TIAM1 Synonymous SNV G655G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 306488 chr17 56572867 56572867 C T rs369882489 MTMR4 Nonsynonymous SNV R879H 0 0 0.003 0 0 0 0 1 0 0 0 0 22 306489 chr22 31850232 31850232 G C rs780365912 EIF4ENIF1 Synonymous SNV T307T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.345 306490 chr22 32828366 32828366 C A rs150852332 BPIFC Nonsynonymous SNV M381I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.4 306491 chr22 32894494 32894494 G C rs34316445 FBXO7 Nonsynonymous SNV D437H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 306492 chr17 62008716 62008716 C G rs746215289 CD79B Nonsynonymous SNV D33H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 306493 chr14 21992045 21992045 G A rs376577664 SALL2 Nonsynonymous SNV A604V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 306494 chr2 219602754 219602754 C T rs114586336 TTLL4 Nonsynonymous SNV R119C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 306495 chr12 1517396 1517396 A G rs770625355 ERC1 Nonsynonymous SNV K1003E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 306496 chr14 24768260 24768260 C A DHRS1 Nonsynonymous SNV G18V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 306497 chr2 136602142 136602142 C A MCM6 Nonsynonymous SNV E774D 0.003 0.003 0 0 4 1 0 0 0 0 0 0 23 306498 chr14 31091566 31091566 - CAGCAG rs372043124 SCFD1 A13_S14insAA 0.001 0 0 0 1 0 0 0 0 0 0 0 306499 chr21 46935942 46935942 G A rs7278825 SLC19A1 Nonsynonymous SNV A429V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 306500 chr21 47571837 47571837 C T rs375990689 FTCD Nonsynonymous SNV R142Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 306501 chr2 229890552 229890552 G A PID1 Synonymous SNV V101V 0 0.003 0 0 0 1 0 0 0 0 0 0 4.834 306502 chr14 51239040 51239040 C G NIN Nonsynonymous SNV E320D 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 306503 chr2 233697747 233697747 G C rs960645272 GIGYF2 Nonsynonymous SNV E898Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 306504 chr14 55004457 55004457 G C rs563870382 CGRRF1 Synonymous SNV V196V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.681 306505 chr14 58831098 58831098 A G rs776280432 ARID4A Nonsynonymous SNV E764G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 306506 chr22 21341829 21341829 C G LZTR1 Stop gain Y119X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 306507 chr2 234737318 234737318 C G MROH2A Nonsynonymous SNV P1388A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.225 306508 chr22 50944576 50944576 G A LMF2 Nonsynonymous SNV P196L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 306509 chr22 22277637 22277637 C T rs201217825 PPM1F Nonsynonymous SNV R398Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 306510 chr2 239016473 239016473 G A rs138808564 ESPNL Synonymous SNV E238E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.178 306511 chr22 21332263 21332263 C T rs73392570 AIFM3 Synonymous SNV N482N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 306512 chr2 209169706 209169706 A T PIKFYVE Synonymous SNV P438P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.165 306513 chr22 21346031 21346031 G A rs143128466 LZTR1 Synonymous SNV A302A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.86 306514 chr17 79257226 79257226 G A rs141775697 SLC38A10 Nonsynonymous SNV R114W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306515 chr22 21356159 21356159 G A rs183339375 THAP7 Synonymous SNV D14D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.645 306516 chr14 65055907 65055907 C T rs911115443 PPP1R36 Nonsynonymous SNV P374S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306517 chr17 79503772 79503772 C T rs182593453 FSCN2 Synonymous SNV D434D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.36 306518 chr22 26298636 26298636 G A rs371636194 MYO18B Nonsynonymous SNV R1628H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 306519 chr17 79826416 79826416 G A rs752292660 ARHGDIA Nonsynonymous SNV R183W 0 0 0.003 0 0 0 0 1 0 0 0 0 6.489 306520 chr22 29115405 29115405 T C rs199749372 CHEK2 Nonsynonymous SNV I221V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.07 306521 chr14 71199824 71199824 G A MAP3K9 Synonymous SNV L487L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.311 306522 chr22 24236600 24236600 C A rs201326009 MIF-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 14.74 306523 chr22 31283290 31283290 G A rs184547696 LOC107985544 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 306524 chr18 21957382 21957382 - AATT rs766116535 OSBPL1A Stop gain C39* 0 0 0.007 0 0 0 0 2 0 0 0 0 306525 chr2 127819774 127819774 C T BIN1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 306526 chr22 40801283 40801283 G A rs769475191 SGSM3 Nonsynonymous SNV G142S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 306527 chr2 27551428 27551428 A G GTF3C2 Synonymous SNV A721A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.919 306528 chr14 91341555 91341555 A G rs376381621 RPS6KA5 Synonymous SNV D443D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.866 306529 chr18 31318822 31318822 A G rs151027205 ASXL3 Nonsynonymous SNV N485S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 306530 chr2 137990644 137990644 C T THSD7B Synonymous SNV G697G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 306531 chr2 137990652 137990652 C T rs770111730 THSD7B Nonsynonymous SNV T700I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 306532 chr18 346700 346700 C T rs143941697 COLEC12 Nonsynonymous SNV E308K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.3 306533 chr14 96864441 96864441 G A rs140159462 AK7 Synonymous SNV S45S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 306534 chr2 37255309 37255309 T G rs765733438 HEATR5B Nonsynonymous SNV T1204P 0 0.003 0 0 0 1 0 0 0 0 0 0 17.65 306535 chr22 44372035 44372035 G A SAMM50 Nonsynonymous SNV S250N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 306536 chr22 51008731 51008731 G A rs201037998 CPT1B Synonymous SNV G677G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 306537 chr2 168106508 168106508 T C rs376778393 XIRP2 Nonsynonymous SNV F2647S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306538 chr12 53240059 53240059 G A KRT78 Synonymous SNV F116F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 306539 chr2 170059372 170059372 A G rs755440800 LRP2 Synonymous SNV G2701G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 306540 chr14 105612992 105612992 C T rs191336412 JAG2 Nonsynonymous SNV R812H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 306541 chr15 27725944 27725944 A G rs373457978 GABRG3 Synonymous SNV L241L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.664 306542 chr2 176866912 176866912 C G rs1040085676 LNPK Nonsynonymous SNV G36A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.92 306543 chr18 8825272 8825272 G A rs149227195 MTCL1 Nonsynonymous SNV R1255H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.193 306544 chr19 10469974 10469974 G A rs756870112 TYK2 Synonymous SNV I684I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 306545 chr2 179480377 179480377 T C rs186497293 TTN Nonsynonymous SNV T7086A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.07 306546 chr2 179611852 179611853 AG - TTN L5092Gfs*39 0.001 0 0 0 1 0 0 0 0 0 0 0 306547 chr19 11565419 11565419 G A rs199860514 ELAVL3 Synonymous SNV I342I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 306548 chr19 12059879 12059879 T C rs201761184 ZNF700 Nonsynonymous SNV I350T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 306549 chr19 1226587 1226587 C G rs864622448 STK11 Nonsynonymous SNV R415G 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 33 306550 chr19 12868774 12868774 T C rs751886195 BEST2 Synonymous SNV L471L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.842 306551 chr2 18112443 18112443 G A rs372262037 KCNS3 Synonymous SNV L56L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.488 306552 chr2 136626278 136626278 T C rs778851994 MCM6 Nonsynonymous SNV K173R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 306553 chr2 141260667 141260667 G C rs529890891 LRP1B Nonsynonymous SNV R2843G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.7 306554 chr19 1507557 1507557 C T rs200393666 ADAMTSL5 Synonymous SNV L229L 0 0 0.007 0 0 0 0 2 0 0 0 0 7.628 306555 chr2 120003564 120003564 G T STEAP3 Nonsynonymous SNV Q164H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 306556 chr2 122363461 122363461 C T CLASP1 Nonsynonymous SNV R4H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 306557 chr15 52500797 52500797 T C MYO5C Nonsynonymous SNV N1447S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 306558 chr19 16614051 16614051 C T rs139247190 C19orf44 Nonsynonymous SNV P312L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.058 306559 chr19 17000054 17000054 C A rs751612733 F2RL3 Synonymous SNV G18G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.98 306560 chr15 57731543 57731543 G C CGNL1 Nonsynonymous SNV G449A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 306561 chr19 1805897 1805897 C A ATP8B3 Nonsynonymous SNV D218Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 306562 chr3 11871204 11871204 G A rs116010980 TAMM41 Synonymous SNV A182A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 306563 chr2 25384092 25384092 T C rs149540566 POMC Nonsynonymous SNV Y221C 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 306564 chr15 71535096 71535096 A G rs201562942 THSD4 Synonymous SNV R191R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.623 306565 chr19 19612012 19612014 GGA - rs372055939 GATAD2A E432del 0 0 0.003 0 0 0 0 1 0 0 0 0 306566 chr3 121724186 121724186 T C rs776726555 ILDR1 Nonsynonymous SNV N95S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.145 306567 chr2 183070674 183070674 C A PDE1A Nonsynonymous SNV D281Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 306568 chr3 122283368 122283368 G C rs367967191 DTX3L Nonsynonymous SNV S32T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 306569 chr19 22155105 22155105 G - rs752073888 ZNF208 H911Ifs*83 0 0 0.003 0 0 0 0 1 0 0 0 0 306570 chr19 2246976 2246976 G A SF3A2 Synonymous SNV Q167Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.907 306571 chr2 29259521 29259521 C A TOGARAM2 Nonsynonymous SNV L654M 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 24.1 306572 chr2 187627035 187627035 C G FAM171B Nonsynonymous SNV Q656E 0 0 0.003 0 0 0 0 1 0 0 0 0 25 306573 chr2 201499609 201499609 G A rs145184679 AOX1 Nonsynonymous SNV V773M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 306574 chr15 85164736 85164736 G A rs200358209 ZSCAN2 Nonsynonymous SNV R437Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 306575 chr2 202501562 202501562 G A rs372100073 TMEM237 Synonymous SNV P61P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 5.402 306576 chr2 21250819 21250819 G T APOB Nonsynonymous SNV P650T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 306577 chr19 38939153 38939177 TCAGTGGGGTTTGTGGCGCCCTCCC - rs794726982 RYR1 0 0 0.003 0 0 0 0 1 0 0 0 0 306578 chr2 234858642 234858642 G T TRPM8 Nonsynonymous SNV G331V 0.002 0 0 0 2 0 0 0 0 0 0 0 26 306579 chr2 237076452 237076452 G C GBX2 Nonsynonymous SNV L55V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 306580 chr3 153970946 153970946 G A rs372751572 ARHGEF26 Nonsynonymous SNV S781N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.83 306581 chr2 220433024 220433024 C T rs376475182 OBSL1 Synonymous SNV R345R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.98 306582 chr19 407775 407775 C T C2CD4C Nonsynonymous SNV G196D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 306583 chr2 239057683 239057683 A G KLHL30 Nonsynonymous SNV K459E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 306584 chr2 239306144 239306144 C T rs756770084 TRAF3IP1 Synonymous SNV I512I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 306585 chr3 170198825 170198825 G A rs753129566 SLC7A14 Nonsynonymous SNV L416F 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.2 306586 chr2 231134655 231134655 G A rs182891771 SP140 Synonymous SNV A363A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.357 306587 chr19 42928614 42928615 TG - rs3037073 LIPE-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 306588 chr16 772427 772427 G A rs776021784 ANTKMT Nonsynonymous SNV R176Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 306589 chr16 816934 816934 G A rs34926266 MSLN Nonsynonymous SNV V483I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 0.012 306590 chr16 1254064 1254064 C T rs145376050 CACNA1H Nonsynonymous SNV P686L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23.8 306591 chr2 234730786 234730786 T A rs992620192 MROH2A Nonsynonymous SNV W1177R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 306592 chr2 234731072 234731072 C T rs138495931 MROH2A Nonsynonymous SNV L1246F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 306593 chr16 1270825 1270825 G A rs769136587 CACNA1H Nonsynonymous SNV G2292E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 306594 chr2 234775314 234775314 C T rs28900725 MSL3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.654 306595 chr16 1388642 1388642 G A rs55700295 BAIAP3 Nonsynonymous SNV S31N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.608 306596 chr16 1399551 1399551 G A rs61738797 TSR3 Nonsynonymous SNV R276C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.26 306597 chr2 238244921 238244921 G A rs11903206 COL6A3 Nonsynonymous SNV A2334V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 9.973 306598 chr2 238256507 238256507 G A rs113961575 COL6A3 Synonymous SNV N1717N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.062 306599 chr2 238280655 238280655 G A rs34503558 COL6A3 Synonymous SNV G728G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.51 306600 chr2 238283314 238283314 C T rs35489467 COL6A3 Synonymous SNV T533T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.317 306601 chr2 238285431 238285431 G A rs34367758 COL6A3 Synonymous SNV N411N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.457 306602 chr2 238451271 238451271 C T rs146485666 MLPH Nonsynonymous SNV S383L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.739 306603 chr2 238737933 238737933 A C rs10186505 RBM44 Nonsynonymous SNV N893H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 306604 chr3 188327586 188327586 T G LPP Nonsynonymous SNV I356S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 306605 chr16 2821486 2821486 C T rs193122310 ELOB Nonsynonymous SNV R158H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 306606 chr19 47127347 47127347 G A PTGIR Nonsynonymous SNV P46S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.042 306607 chr16 3339744 3339744 A C ZNF263 Nonsynonymous SNV E413A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.021 306608 chr2 242352723 242352723 G A rs144589035 FARP2 Synonymous SNV S170S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 306609 chr19 4839535 4839535 C T rs369340676 PLIN3 Nonsynonymous SNV R324Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.33 306610 chr16 4744113 4744113 C T rs534519989 NUDT16L1 Synonymous SNV Y96Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.362 306611 chr16 5061119 5061119 C T rs201495044 SEC14L5 Synonymous SNV P608P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.27 306612 chr2 26693571 26693571 - CTC OTOF E614_K615insE 0 0 0.003 0 0 0 0 1 0 0 0 0 306613 chr16 11769984 11769984 G A rs773943404 SNN Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.903 306614 chr2 56411781 56411792 GCGGCGGCGGCT - rs746236415 CCDC85A A12_A15del 0.002 0 0 0 2 0 0 0 0 0 0 0 306615 chr2 31168705 31168705 T C GALNT14 Nonsynonymous SNV D229G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 306616 chr19 52938401 52938401 G A rs367786848 ZNF534 Synonymous SNV Q42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.305 306617 chr3 42244260 42244260 C A TRAK1 Nonsynonymous SNV P513H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.839 306618 chr3 42733401 42733401 G A rs371116469 KLHL40 Synonymous SNV E594E 0 0.003 0 0 0 1 0 0 0 0 0 0 4.591 306619 chr16 29708318 29708318 C T rs766732908 QPRT Nonsynonymous SNV A39V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 306620 chr3 44598871 44598871 G A rs761118662 ZKSCAN7 Nonsynonymous SNV R111Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.44 306621 chr3 44683408 44683408 C T rs144259566 ZNF197, ZNF660-ZNF197 Synonymous SNV T49T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.58 306622 chr3 185970919 185970919 T C rs914961411 DGKG Synonymous SNV T496T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.935 306623 chr16 30594047 30594047 C T rs150257210 ZNF785 Nonsynonymous SNV R351H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 306624 chr16 30777768 30777768 A G rs150892446 RNF40 Synonymous SNV Q394Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.062 306625 chr3 188327367 188327367 C T rs201035440 LPP Nonsynonymous SNV P283L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.65 306626 chr19 55047063 55047063 G A rs766261140 KIR3DX1 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 306627 chr3 47037841 47037841 C T rs200828934 NBEAL2 Synonymous SNV P710P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.112 306628 chr16 56599053 56599053 G A MT4 Nonsynonymous SNV E5K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.24 306629 chr3 48508198 48508198 C G rs781060789 TREX1 Synonymous SNV P38P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.216 306630 chr3 48622370 48622370 T G COL7A1 Synonymous SNV P1328P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.449 306631 chr3 15094033 15094033 T G MRPS25 Nonsynonymous SNV Q146P 0.002 0.003 0 1 2 1 0.003 0 0 0 0 0 32 306632 chr2 85625839 85625839 T G rs749845690 CAPG Nonsynonymous SNV N245H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 306633 chr2 95847531 95847531 G A rs376640077 ZNF2 Nonsynonymous SNV G240R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 306634 chr3 32200588 32200588 C T rs72552291 GPD1L Nonsynonymous SNV A280V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.573 306635 chr2 96801108 96801108 C T rs771568000 ASTL Synonymous SNV E75E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.744 306636 chr16 68337958 68337958 C T rs138428124 SLC7A6OS Nonsynonymous SNV V217M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 34 306637 chr16 68391085 68391085 C T rs779127445 PRMT7 Synonymous SNV G629G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 306638 chr16 71901928 71901928 A T ZNF821 Nonsynonymous SNV F18Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 306639 chr3 108351915 108351915 A G rs139745617 DZIP3 Nonsynonymous SNV Y271C 0 0 0.007 0 0 0 0 2 0 0 0 0 26.1 306640 chr16 77327114 77327114 G A rs377137286 ADAMTS18 Synonymous SNV L844L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.499 306641 chr3 113513950 113513950 A G ATP6V1A Synonymous SNV P375P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.665 306642 chr19 7566071 7566071 C T rs775719868 TEX45 Synonymous SNV A121A 0 0 0.007 0 0 0 0 2 0 0 0 0 17.84 306643 chr3 9426341 9426341 A - rs772505349 THUMPD3 R499Efs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 306644 chr16 84520496 84520496 C G rs34244563 MEAK7 Nonsynonymous SNV E233D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.62 306645 chr16 85954881 85954881 C T IRF8 Nonsynonymous SNV T221I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 306646 chr3 124692734 124692734 G A rs748702860 HEG1 Synonymous SNV D1279D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.817 306647 chr3 125899221 125899221 - CCTGGAGCCCCTGGAGCC ALDH1L1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 306648 chr3 127399122 127399122 G A rs374331896 ABTB1 Nonsynonymous SNV R272Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.981 306649 chr3 130095127 130095127 G A rs748352703 COL6A5 Nonsynonymous SNV D39N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.604 306650 chr3 134225962 134225962 C T rs772285151 CEP63 Nonsynonymous SNV T19I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 306651 chr3 134084696 134084696 G A rs147521061 AMOTL2 Synonymous SNV A472A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.24 306652 chr2 99861916 99861916 G A rs146592960 LYG2 Nonsynonymous SNV R64C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 306653 chr17 1028639 1028639 T C rs769278427 ABR Nonsynonymous SNV E301G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 306654 chr1 100598744 100598744 C T rs141081618 TRMT13 Nonsynonymous SNV S7L 0 0 0.007 0 0 0 0 2 0 0 0 0 19.64 306655 chr4 128651812 128651812 G T rs150228046 SLC25A31 Nonsynonymous SNV V38L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 306656 chr1 102290760 102290760 G A rs138105539 OLFM3 Synonymous SNV P158P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.141 306657 chr3 14212041 14212041 T C rs371793771 XPC Synonymous SNV P103P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.035 306658 chr3 58739539 58739539 C T rs146724956 C3orf67 Nonsynonymous SNV G433S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 306659 chr3 157823575 157823575 C T rs745893880 SHOX2 Nonsynonymous SNV G80E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 306660 chr4 154387612 154387612 C T rs759231146 TMEM131L Synonymous SNV L21L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.102 306661 chr3 158363431 158363431 C G rs754056747 GFM1 Nonsynonymous SNV A32G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.27 306662 chr15 23811843 23811843 G A rs377353800 MKRN3 Nonsynonymous SNV R305H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 306663 chr17 3844557 3844557 G A ATP2A3 Nonsynonymous SNV P603L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 306664 chr3 160803670 160803670 A T B3GALNT1 Nonsynonymous SNV F291L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.17 306665 chr17 4145670 4145670 C T rs375008056 ANKFY1 Synonymous SNV A70A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.14 306666 chr3 165548647 165548647 T C rs767219925 BCHE Nonsynonymous SNV I59V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.21 306667 chr15 31360250 31360250 G A TRPM1 Nonsynonymous SNV L126F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 306668 chr3 119305293 119305293 G A ADPRH Nonsynonymous SNV V47M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 306669 chr3 97888464 97888464 A G rs181072358 OR5H15 Synonymous SNV R307R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 306670 chr3 170198355 170198355 G A SLC7A14 Synonymous SNV L572L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.845 306671 chr17 4889562 4889562 G A rs201093195 CAMTA2 Nonsynonymous SNV R9W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 306672 chr15 40328570 40328578 TGTTGGTGC - rs761934126 SRP14 A123_T125del 0.001 0 0 0 1 0 0 0 0 0 0 0 306673 chr15 40328590 40328590 C T rs199851589 SRP14 Nonsynonymous SNV A119T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 306674 chr5 131705908 131705908 C A rs955061461 SLC22A5 Nonsynonymous SNV R82S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.4 306675 chr1 119474420 119474420 G A TBX15 Nonsynonymous SNV L81F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 306676 chr3 184075021 184075021 C T CLCN2 Nonsynonymous SNV R267Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 306677 chr3 126707631 126707631 G A rs551206144 PLXNA1 Synonymous SNV V65V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.081 306678 chr1 146740450 146740450 C T rs782811744 CHD1L Nonsynonymous SNV P129L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306679 chr3 193336594 193336594 T C OPA1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.647 306680 chr15 42956044 42956044 A G STARD9 Nonsynonymous SNV S369G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.45 306681 chr15 43552685 43552685 G A rs370983556 TGM5 Nonsynonymous SNV R35W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 306682 chr1 151138220 151138230 CACCTTCCACT - LYSMD1 E10Dfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 306683 chr3 195477969 195477969 G A rs771914937 MUC4 Nonsynonymous SNV P934L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.619 306684 chr15 44695159 44695159 G C CASC4 Nonsynonymous SNV D383H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 306685 chr3 195515610 195515610 A G rs113384737 MUC4 Synonymous SNV L947L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.301 306686 chr3 195515996 195515996 C T rs201298929 MUC4 Nonsynonymous SNV E819K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.704 306687 chr3 195516597 195516597 A G rs370729830 MUC4 Synonymous SNV H618H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 306688 chr3 195638494 195638494 C T rs542036407 TNK2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.67 306689 chr1 152573374 152573374 A G rs200915100 LCE3C Nonsynonymous SNV H56R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.759 306690 chr17 10250101 10250101 C T rs199911320 MYH13 Nonsynonymous SNV G387R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 306691 chr3 197260367 197260367 G A rs377023279 BDH1 Nonsynonymous SNV A50V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 306692 chr1 154901525 154901525 A G rs139248801 PMVK Nonsynonymous SNV V82A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.5 306693 chr3 27387620 27387620 G C rs773731128 NEK10 Nonsynonymous SNV Q74E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 306694 chr3 27463220 27463220 G A rs199787011 SLC4A7 Synonymous SNV N311N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.447 306695 chr3 37512510 37512510 C T rs747154358 ITGA9 Synonymous SNV G66G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 306696 chr4 5667350 5667350 T C rs763124334 EVC2 Synonymous SNV A219A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.231 306697 chr1 159277572 159277572 C A rs553543242 FCER1A Synonymous SNV I208I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 306698 chr5 158522674 158522674 G A rs201413959 EBF1 Nonsynonymous SNV T122M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 306699 chr3 47284910 47284912 GTG - rs748635498 KIF9-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 306700 chr5 167379609 167379609 C T rs369921503 TENM2 Synonymous SNV H52H 0.002 0 0 0 2 0 0 0 0 0 0 0 11.7 306701 chr1 167870912 167870912 G A rs776954739 ADCY10 Stop gain R50X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306702 chr5 172196661 172196661 T C rs780461692 DUSP1 Nonsynonymous SNV H217R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.408 306703 chr1 170993889 170993889 A G MROH9 Nonsynonymous SNV N721D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 306704 chr3 50617818 50617818 G A rs141954863 HEMK1 Synonymous SNV R329R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 306705 chr17 36099477 36099477 G A rs767651202 HNF1B Synonymous SNV A166A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.75 306706 chr5 176882393 176882393 - CGCACG rs766759834 PRR7 H114_P115insAH 0.001 0 0 1 1 0 0.003 0 0 0 0 0 306707 chr4 8229354 8229354 G T rs754059522 SH3TC1 Nonsynonymous SNV G569W 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 306708 chr4 82363492 82363492 T - rs765006689 RASGEF1B T281Lfs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 306709 chr3 52012024 52012024 A G rs771524484 ABHD14A, ABHD14A-ACY1 Nonsynonymous SNV Q21R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 306710 chr3 52263062 52263062 C T rs763516605 TWF2 Synonymous SNV G346G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 306711 chr3 5229687 5229687 T C rs774467884 EDEM1 Nonsynonymous SNV V66A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 306712 chr3 52524782 52524782 C T rs370062594 NISCH Synonymous SNV F1225F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 306713 chr3 65415679 65415679 A G rs772888608 MAGI1 Synonymous SNV D561D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.764 306714 chr3 66432759 66432759 C T rs148076317 LRIG1 Nonsynonymous SNV R852Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 306715 chr4 87692538 87692538 C T rs757965597 PTPN13 Nonsynonymous SNV S1482L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.485 306716 chr3 58090836 58090836 C T rs200619215 FLNB Nonsynonymous SNV A547V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 306717 chr3 58849415 58849415 G C C3orf67 Nonsynonymous SNV P433A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 306718 chr3 98530126 98530126 G A rs954810005 DCBLD2 Synonymous SNV R496R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 306719 chr1 200561293 200561293 G T KIF14 Nonsynonymous SNV P419T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.315 306720 chr4 103184317 103184317 C G rs145529199 SLC39A8, SLC39A8 Nonsynonymous SNV V356L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 306721 chr5 42713598 42713598 A G GHR Synonymous SNV V262V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.663 306722 chr4 1050694 1050694 C T RNF212 Nonsynonymous SNV G249D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.558 306723 chr1 202842854 202842854 A C LOC148709 0 0 0.003 0 0 0 0 1 0 0 0 0 1.259 306724 chr1 206225250 206225250 C T AVPR1B Synonymous SNV N270N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.543 306725 chr4 126242601 126242601 C T rs569440986 FAT4 Nonsynonymous SNV R1679C 0 0 0.003 0 0 0 0 1 0 0 0 0 29 306726 chr4 129924904 129924904 C T rs373839589 SCLT1 Nonsynonymous SNV A140T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 306727 chr4 130003459 130003459 A G SCLT1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 306728 chr1 212798271 212798271 A G rs199963724 FAM71A Nonsynonymous SNV M18V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.275 306729 chr1 213125111 213125111 - G VASH2 Frameshift insertion E79Rfs*46 0 0 0.003 0 0 0 0 1 0 0 0 0 306730 chr1 222826403 222826403 A G rs200144639 MIA3 Synonymous SNV Q258Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.434 306731 chr17 61345212 61345212 T C TANC2 Synonymous SNV A305A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.038 306732 chr4 144619992 144619992 G C FREM3 Nonsynonymous SNV L613V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 306733 chr17 62481893 62481893 G A rs782024394 POLG2 Synonymous SNV F354F 0.001 0 0 0 1 0 0 0 0 0 0 0 2.157 306734 chr1 226411745 226411745 G A rs774618035 MIXL1 Synonymous SNV A121A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.88 306735 chr4 85758232 85758232 G A rs753132417 WDFY3 Synonymous SNV D142D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.149 306736 chr5 141693886 141693886 C T rs768461830 SPRY4 Nonsynonymous SNV R263H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 306737 chr1 2290146 2290146 C T rs142639415 MORN1 Nonsynonymous SNV G252S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 306738 chr17 73658655 73658655 G T RECQL5 Synonymous SNV L225L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.312 306739 chr1 235323941 235323941 G A rs774851152 RBM34 Nonsynonymous SNV R84W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 306740 chr4 25270138 25270138 A G rs144713410 PI4K2B Synonymous SNV P384P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.679 306741 chr4 17843995 17843995 T C NCAPG Nonsynonymous SNV S973P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306742 chr6 112041069 112041069 G A rs367968412 FYN Synonymous SNV T62T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.465 306743 chr4 183659682 183659682 C T rs753735586 TENM3 Synonymous SNV L1122L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.855 306744 chr1 2435906 2435906 C T rs376060671 PLCH2 Nonsynonymous SNV R1169C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.87 306745 chr5 170737257 170737257 G A rs528740194 TLX3 Synonymous SNV R175R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.427 306746 chr1 247241992 247241992 T G rs1009038133 ZNF670-ZNF695 0 0 0.003 0 0 0 0 1 0 0 0 0 5.006 306747 chr16 30715516 30715516 C T rs752152893 SRCAP Synonymous SNV G62G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 306748 chr6 133044965 133044965 C A rs747776220 VNN3 Nonsynonymous SNV D137Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.795 306749 chr17 78328230 78328230 C T rs776406778 RNF213-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.611 306750 chr4 2692459 2692459 A G FAM193A Synonymous SNV T564T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.512 306751 chr17 79166596 79166596 C T rs376522416 CEP131 Nonsynonymous SNV R793Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 306752 chr5 176935417 176935417 G A rs146755459 DOK3 Nonsynonymous SNV R65W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 306753 chr17 79211218 79211218 C T rs188620146 TEPSIN Synonymous SNV P30P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 306754 chr17 79219776 79219776 G A rs370103419 SLC38A10 Synonymous SNV G980G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 306755 chr6 151152276 151152276 G A rs200098876 PLEKHG1 Nonsynonymous SNV E638K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 306756 chr5 122131054 122131054 G C SNX2 Nonsynonymous SNV D68H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 306757 chr1 26601519 26601519 G A rs201784964 CEP85 Nonsynonymous SNV R52Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 306758 chr16 66656053 66656053 C T rs35412701 CMTM4 Nonsynonymous SNV V179I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 306759 chr6 154360747 154360747 C A OPRM1 Nonsynonymous SNV S23Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306760 chr4 7436487 7436487 A G rs200840601 PSAPL1 Synonymous SNV A40A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.227 306761 chr4 7780466 7780466 A C rs143385598 AFAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.377 306762 chr4 79295312 79295312 C T rs200292361 FRAS1 Nonsynonymous SNV R1020C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 306763 chr1 34258060 34258060 C T rs151055907 CSMD2 Nonsynonymous SNV G505D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 306764 chr18 19070101 19070101 T C GREB1L Nonsynonymous SNV M940T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 306765 chr18 19780655 19780655 A G GATA6 Nonsynonymous SNV T553A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.687 306766 chr5 480142 480142 C T rs571029514 SLC9A3-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 4.214 306767 chr1 45973103 45973103 C G rs201507059 MMACHC Nonsynonymous SNV L53V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 306768 chr6 26508812 26508812 C T rs536850553 BTN1A1 Nonsynonymous SNV R331C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 306769 chr5 10681087 10681087 C T rs866976565 DAP Nonsynonymous SNV R116H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.73 306770 chr5 145838711 145838728 GCTCAGGCCCAGGCCCAG - TCERG1 A237_Q242del 0 0.003 0 0 0 1 0 0 0 0 0 0 306771 chr4 75091053 75091053 C G rs146379578 MTHFD2L Synonymous SNV T249T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 306772 chr1 54534466 54534466 C A rs150639315 TCEANC2 Nonsynonymous SNV T47N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.137 306773 chr1 55224230 55224230 C T PARS2 Nonsynonymous SNV R202Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 306774 chr5 126769088 126769088 G T rs201832505 MEGF10 Nonsynonymous SNV R576L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.82 306775 chr18 60383415 60383415 C G rs926184117 PHLPP1 Nonsynonymous SNV L167V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 306776 chr1 5935076 5935076 C T rs375090704 NPHP4 Nonsynonymous SNV A456T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.244 306777 chr4 38774913 38774913 A C TLR10 Nonsynonymous SNV F767V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 306778 chr4 89601364 89601364 A C HERC3 Nonsynonymous SNV N655H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 306779 chr5 137735696 137735696 G A rs368195001 KDM3B Nonsynonymous SNV R1065H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 306780 chr1 65016295 65016295 G A rs766422694 CACHD1 Nonsynonymous SNV V73I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 306781 chr4 94690361 94690361 G A GRID2 Synonymous SNV R692R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 306782 chr5 138209552 138209552 G A rs753095418 LRRTM2 Nonsynonymous SNV T233M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 306783 chr18 72345692 72345692 G A rs368869230 ZNF407 Nonsynonymous SNV R906Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 306784 chr5 138732799 138732799 A G rs774134135 SPATA24 Nonsynonymous SNV I140T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 306785 chr5 139819747 139819747 G C ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV V221L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 306786 chr5 140250212 140250212 G A rs782093554 PCDHA11 Synonymous SNV S508S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.721 306787 chr1 85136370 85136370 T C SSX2IP Nonsynonymous SNV T31A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 306788 chr5 145664215 145664215 C T rs199579077 RBM27 Nonsynonymous SNV R1007C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 306789 chr6 117866711 117866711 T C rs754871260 DCBLD1 Nonsynonymous SNV M493T 0 0.003 0 0 0 1 0 0 0 0 0 0 4.436 306790 chr5 37330152 37330152 C T rs935409994 NUP155 Nonsynonymous SNV R571Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 306791 chr19 1619370 1619370 G A rs76459051 TCF3 Nonsynonymous SNV A424V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306792 chr5 153826354 153826354 A T SAP30L Nonsynonymous SNV I64F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 306793 chr19 2934625 2934625 C T rs141883841 ZNF77 Nonsynonymous SNV C167Y 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 306794 chr5 13901641 13901641 A C rs35090077 DNAH5 Nonsynonymous SNV L591R 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 5.407 306795 chr5 13913993 13913993 G A rs34580014 DNAH5 Synonymous SNV S465S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 12.46 306796 chr19 3644179 3644179 G A rs149493037 PIP5K1C Synonymous SNV T472T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.944 306797 chr5 176304568 176304568 G C UNC5A Nonsynonymous SNV S500T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 306798 chr20 2320535 2320535 C T rs76528811 TGM3 Synonymous SNV N612N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 306799 chr5 147016550 147016550 G A rs143339094 JAKMIP2 Nonsynonymous SNV A489V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 306800 chr6 158517081 158517081 C T rs954593146 SYNJ2 Synonymous SNV P1155P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 306801 chr20 33588663 33588663 G A MYH7B Synonymous SNV E1799E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.75 306802 chr6 162683693 162683693 C T rs200256562 PRKN Synonymous SNV A92A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.06 306803 chr20 3766946 3766946 G T CENPB Nonsynonymous SNV A62D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 306804 chr20 4229386 4229386 C T ADRA1D Synonymous SNV G73G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.012 306805 chr6 17606180 17606180 A G rs150545995 FAM8A1 Nonsynonymous SNV T345A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.32 306806 chr5 88027626 88027626 T C rs752349182 MEF2C Nonsynonymous SNV M102V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 12.26 306807 chr20 49196274 49196282 AGCCCCCAC - PTPN1 E227_P230delinsA 0 0 0.003 0 0 0 0 1 0 0 0 0 306808 chr20 57269579 57269579 G A rs530751574 NPEPL1 Synonymous SNV K146K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.782 306809 chr5 72424293 72424293 T C rs765403563 TMEM171 Synonymous SNV S239S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.289 306810 chr6 36291139 36291139 G A rs144774535 BNIP5 Stop gain R468X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 306811 chr5 77409650 77409650 G C AP3B1 Nonsynonymous SNV D676E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306812 chr5 79032780 79032780 A G rs201597133 CMYA5 Nonsynonymous SNV H2731R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306813 chr5 79950723 79950723 - CCCCCAGC rs755017868 MSH3 Frameshift insertion A60Pfs*23 0 0 0.003 0 0 0 0 1 0 0 0 0 306814 chr5 79950726 79950726 - CCCA rs770677713 MSH3 Frameshift insertion A61Pfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 306815 chr5 79950727 79950727 - CGCCCCCAGCGCCCC rs747419370 MSH3 A61_A62insPPAPP 0 0 0.003 0 0 0 0 1 0 0 0 0 306816 chr5 82360047 82360047 C T rs75504425 SCARNA18 0 0 0.007 0 0 0 0 2 0 0 0 0 16.58 306817 chr5 9044598 9044598 G T rs747188913 SEMA5A Nonsynonymous SNV Q998K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 306818 chr19 14016687 14016687 A T C19orf57 Synonymous SNV P79P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.825 306819 chr19 14016913 14016913 G A C19orf57 Nonsynonymous SNV A4V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.947 306820 chr6 44140720 44140720 G A rs747176501 CAPN11 Nonsynonymous SNV R191Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 306821 chr21 34635364 34635364 C A rs185586873 IFNAR2 Nonsynonymous SNV D369E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.122 306822 chr21 35821826 35821826 C T rs199473351 KCNE1, KCNE1B Nonsynonymous SNV R36H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.212 306823 chr6 109662158 109662158 C T rs755652961 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 306824 chr17 40269411 40269411 A G rs147626347 KAT2A Synonymous SNV F544F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.665 306825 chr17 40818773 40818773 G A rs201196377 TUBG2 Synonymous SNV A437A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.641 306826 chr19 16278983 16278983 C T rs202179717 CIB3 Nonsynonymous SNV R55H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 306827 chr6 118635244 118635244 C T rs377754787 SLC35F1 Synonymous SNV L352L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 306828 chr21 43522414 43522414 C A UMODL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.062 306829 chr6 12125941 12125941 C T rs768197004 HIVEP1 Synonymous SNV S1971S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 306830 chr6 165711567 165711567 C T rs761856449 C6orf118 Synonymous SNV A320A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 306831 chr6 165713956 165713956 G A rs763430282 C6orf118 Nonsynonymous SNV T258M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 306832 chr21 46876485 46876485 G T rs536492922 COL18A1 Synonymous SNV L347L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.75 306833 chr6 74183358 74183358 A G rs76335462 MTO1 Nonsynonymous SNV N269S 0 0.003 0 0 0 1 0 0 0 0 0 0 5.473 306834 chr17 46865255 46865255 C T TTLL6 Nonsynonymous SNV E196K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 306835 chr6 147124350 147124350 A C KATNBL1P6 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 306836 chr19 18778925 18778925 C T rs537477208 KLHL26 Nonsynonymous SNV R269W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 306837 chr19 19168307 19168307 C T rs758350511 ARMC6 Nonsynonymous SNV A434V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 306838 chr19 19349167 19349167 G T rs142856081 NCAN Nonsynonymous SNV R1119L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 306839 chr22 20127314 20127314 C T rs774860100 ZDHHC8 Synonymous SNV F152F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 306840 chr19 21720870 21720870 G A rs201032310 ZNF429 Nonsynonymous SNV R608H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 306841 chr6 18201864 18201864 C T KDM1B Stop gain Q503X 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 306842 chr22 28490097 28490097 C G TTC28 Nonsynonymous SNV E1301D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 306843 chr22 30404991 30404991 T C HORMAD2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 306844 chr19 35540195 35540195 T C rs375787478 HPN Synonymous SNV G6G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 306845 chr19 35624994 35624994 G A rs35849647 LGI4 Nonsynonymous SNV T62M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.44 306846 chr19 35761366 35761366 C A USF2 Nonsynonymous SNV P82H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 306847 chr6 11105030 11105030 A C ERVFRD-1 Nonsynonymous SNV F172V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 306848 chr19 36258708 36258708 G A PROSER3 Nonsynonymous SNV E321K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 306849 chr6 27326782 27326782 G A rs190664982 ZNF204P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.687 306850 chr22 40814439 40814439 A G rs748217781 MRTFA Nonsynonymous SNV V668A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 306851 chr6 123039070 123039070 A G rs182893341 PKIB Nonsynonymous SNV D44G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 306852 chr22 42610805 42610805 C T rs745906395 TCF20 Synonymous SNV Q169Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.867 306853 chr5 66409996 66409996 A T MAST4 Nonsynonymous SNV I320F 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 306854 chr5 71015709 71015709 C G rs74766242 CARTPT Nonsynonymous SNV I54M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 306855 chr6 34360098 34360098 G A rs779508055 NUDT3 Synonymous SNV G14G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.76 306856 chr7 105660944 105660944 C T rs751515665 CDHR3 Synonymous SNV T505T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.69 306857 chr5 74441983 74441983 C A ANKRD31 Nonsynonymous SNV A1085S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.03 306858 chr5 76028356 76028356 A G F2R Synonymous SNV T102T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 306859 chr19 42301636 42301636 G C rs141744882 CEACAM3 Nonsynonymous SNV Q60H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 306860 chr19 42364904 42364904 C G rs149249194 RPS19 Synonymous SNV A20A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.79 306861 chr6 38738252 38738252 G C rs370590661 DNAH8 Nonsynonymous SNV E344Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 306862 chr5 79032516 79032516 G A rs368525698 CMYA5 Nonsynonymous SNV R2643H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.247 306863 chr22 50657859 50657859 G A rs778946294 TUBGCP6 Nonsynonymous SNV R1448C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 306864 chr22 50727508 50727508 C T PLXNB2 Nonsynonymous SNV G378R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 306865 chr6 43152098 43152098 G A rs775004799 CUL9 Nonsynonymous SNV R17Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 306866 chr6 44149042 44149042 A G rs371969269 CAPN11 Synonymous SNV K641K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 306867 chr7 97862987 97862987 T C rs57704545 TECPR1 Nonsynonymous SNV N473S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 306868 chr7 13935524 13935524 G A rs376142692 ETV1 Synonymous SNV N409N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.162 306869 chr2 113591093 113591093 G A rs538083388 IL1B Synonymous SNV S53S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 306870 chr6 51892988 51892988 C T rs565045703 PKHD1 Nonsynonymous SNV V1176I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22 306871 chr19 48255778 48255778 C T rs139256610 NOP53 Nonsynonymous SNV R227C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 306872 chr6 56480775 56480775 T C rs749052716 DST Nonsynonymous SNV K2497R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.381 306873 chr6 5999410 5999410 C T rs775063624 NRN1 Synonymous SNV T76T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 306874 chr2 128351149 128351149 T G rs201694464 MYO7B Nonsynonymous SNV L725R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.314 306875 chr2 152382481 152382481 A G rs771582884 NEB Synonymous SNV H5683H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.791 306876 chr7 100218641 100218641 G A rs987041183 TFR2 Nonsynonymous SNV R578W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 306877 chr8 143623808 143623808 G A ADGRB1 Nonsynonymous SNV E1405K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 306878 chr7 156762359 156762359 A G NOM1 Nonsynonymous SNV T850A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.067 306879 chr6 34826451 34826451 C T rs773470286 UHRF1BP1 Nonsynonymous SNV P773L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.159 306880 chr2 169313072 169313072 C G rs536654612 CERS6 Synonymous SNV L38L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 306881 chr7 20725399 20725399 T C rs368186203 ABCB5 Synonymous SNV S205S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.066 306882 chr2 171570600 171570600 T G LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 1.896 306883 chr2 179428480 179428480 G A TTN Nonsynonymous SNV P18395L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.67 306884 chr6 41751964 41751964 G A rs374944656 PRICKLE4 Synonymous SNV P76P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.98 306885 chr6 42893226 42893226 C A PTCRA Nonsynonymous SNV R111S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 306886 chr19 54823246 54823246 G A rs200954286 LILRA5 Synonymous SNV A87A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.657 306887 chr18 72997825 72997825 - GCCCCCCC TSHZ1 Frameshift insertion A155Gfs*110 0.001 0 0 0 1 0 0 0 0 0 0 0 306888 chr2 198953774 198953774 G A rs764146731 PLCL1 Nonsynonymous SNV A970T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 306889 chr8 21955113 21955113 C T FAM160B2 Synonymous SNV S128S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 306890 chr6 52878599 52878599 T C CILK1 Nonsynonymous SNV H338R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.162 306891 chr8 22137071 22137071 A G rs140308736 PIWIL2 Nonsynonymous SNV S58G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.648 306892 chr8 22147827 22147827 G A rs114988269 PIWIL2 Synonymous SNV K383K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 306893 chr8 22173799 22173799 C T rs147902985 PIWIL2 Synonymous SNV P750P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 306894 chr6 55264070 55264070 A - rs770832351 GFRAL N349Mfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 306895 chr7 130020365 130020365 C T CPA1 Nonsynonymous SNV R2W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 306896 chr2 216240046 216240046 C T rs752013950 FN1 Synonymous SNV P1835P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.81 306897 chr19 58437607 58437607 C T ZNF418 Nonsynonymous SNV E563K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 306898 chr6 27114909 27114909 T A H2AC12 Star tloss M1K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 306899 chr6 90045064 90045064 G A UBE2J1 Nonsynonymous SNV A172V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 306900 chr19 3179742 3179742 G A rs145561195 S1PR4 Nonsynonymous SNV V318M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 306901 chr6 38691173 38691173 A G rs371708059 DNAH8 Nonsynonymous SNV I151V 0.002 0 0 1 2 0 0.003 0 0 0 0 0 Uncertain significance 8.746 306902 chr20 2467334 2467334 C T ZNF343 Nonsynonymous SNV G127D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.067 306903 chr19 4234811 4234811 G A rs554227389 EBI3 Nonsynonymous SNV R176H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.728 306904 chr7 155531040 155531040 G A rs373047958 RBM33 Synonymous SNV P560P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.782 306905 chr7 157414063 157414063 C T rs756057151 PTPRN2 Nonsynonymous SNV V741M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 306906 chr7 16837268 16837268 C G rs757410542 AGR2 Nonsynonymous SNV R127S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 306907 chr20 10388337 10388337 G A MKKS Nonsynonymous SNV T400I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 306908 chr2 242010991 242010991 C T rs749115309 SNED1 Nonsynonymous SNV S1197F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 306909 chr2 242021176 242021176 G A rs374305124 SNED1 Nonsynonymous SNV G1334E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 21.5 306910 chr20 33567222 33567222 C G rs200981858 MYH7B Nonsynonymous SNV Q83E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 306911 chr7 104748353 104748353 A C KMT2E Nonsynonymous SNV N1150T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 306912 chr20 36640014 36640014 T C TTI1 Synonymous SNV A735A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.775 306913 chr20 44184407 44184407 C A rs142037201 WFDC8 Nonsynonymous SNV R126S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.155 306914 chr20 44639214 44639214 C T rs143024943 MMP9 Nonsynonymous SNV T155I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.48 306915 chr20 44691195 44691195 T G rs780187362 NCOA5 Nonsynonymous SNV Q390P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.577 306916 chr20 44695746 44695746 C T rs764867120 NCOA5 Nonsynonymous SNV D88N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 306917 chr2 44145410 44145410 C T rs200035918 LRPPRC Synonymous SNV P1008P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 306918 chr2 47049489 47049489 C T LINC01118 0 0 0.003 0 0 0 0 1 0 0 0 0 9.212 306919 chr8 134266802 134266802 C T NDRG1 Nonsynonymous SNV V126M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 306920 chr2 61725876 61725876 T G XPO1 Synonymous SNV R231R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 306921 chr2 64160994 64160994 T C rs532458939 VPS54 Nonsynonymous SNV I506V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 306922 chr7 6547976 6547976 G A rs73674127 GRID2IP Synonymous SNV S728S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 306923 chr7 720258 720258 G A rs372454246 PRKAR1B Nonsynonymous SNV R95C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 306924 chr7 81630983 81630983 T C CACNA2D1 Nonsynonymous SNV N547D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.03 306925 chr7 82388025 82388025 G C PCLO Nonsynonymous SNV L5099V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 306926 chr2 80529933 80529933 C T rs61734034 LRRTM1 Nonsynonymous SNV G338S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.3 306927 chr2 95976260 95976260 A T KCNIP3 Nonsynonymous SNV Q58L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 306928 chr2 97217025 97217025 A G rs776779822 ARID5A Nonsynonymous SNV I90V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 306929 chr2 97494738 97494738 G A rs200572566 CNNM3 Synonymous SNV T594T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.246 306930 chr3 101405389 101405389 G A rs139986390 RPL24 Synonymous SNV C6C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 306931 chr3 10302193 10302193 A G TATDN2 Nonsynonymous SNV T263A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 306932 chr21 26961155 26961155 G A rs761850143 MRPL39 Nonsynonymous SNV R321W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 306933 chr21 34900591 34900591 G A rs149566278 GART Synonymous SNV T316T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 306934 chr3 115553427 115553427 T C rs779441054 LSAMP Nonsynonymous SNV I313V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 306935 chr7 117358107 117358107 T C rs142089340 CTTNBP2 Nonsynonymous SNV T1553A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.618 306936 chr3 122680144 122680144 A G rs201912246 SEMA5B Synonymous SNV S43S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.332 306937 chr3 123376048 123376048 G A rs755248772 MYLK Nonsynonymous SNV R1229C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 306938 chr8 142200467 142200467 G C rs1045303 DENND3 Synonymous SNV P1110P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.301 306939 chr7 44147041 44147041 C T rs139352566 AEBP1 Nonsynonymous SNV A200V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.603 306940 chr7 140389472 140389472 G A rs764159638 ADCK2 Nonsynonymous SNV E545K 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 306941 chr21 47811215 47811215 G A rs372175239 PCNT Synonymous SNV A1262A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.549 306942 chr21 47918694 47918694 G A rs781633580 DIP2A Synonymous SNV P201P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.932 306943 chr7 45148491 45148491 C T TBRG4 Nonsynonymous SNV E127K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.025 306944 chr22 19492973 19492973 G A rs551487753 CDC45 Nonsynonymous SNV V219M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 306945 chr8 145700975 145700975 C T rs776865143 FOXH1 Synonymous SNV K55K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 306946 chr3 149485580 149485580 A G rs186830780 ANKUB1 Nonsynonymous SNV V290A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.542 306947 chr22 22842999 22842999 T C ZNF280B Nonsynonymous SNV D242G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.979 306948 chr3 151012897 151012897 G A rs144397049 GPR87 Nonsynonymous SNV P46L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 306949 chr8 17822214 17822214 T A rs781757784 PCM1 Nonsynonymous SNV F931Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 306950 chr3 159584066 159584066 T A rs751386017 IQCJ-SCHIP1, SCHIP1 Nonsynonymous SNV S60T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 306951 chr3 161221428 161221428 G A OTOL1 Nonsynonymous SNV G378R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 306952 chr9 88201863 88201863 A G rs77347683 AGTPBP1 Synonymous SNV S1024S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.292 306953 chr8 24774806 24774806 T C rs146002490 NEFM Synonymous SNV L104L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 306954 chr22 31530283 31530283 G T rs776736541 INPP5J Stop gain E532X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 306955 chr8 27348756 27348756 G A rs759850446 EPHX2 Nonsynonymous SNV D11N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 306956 chr7 21856287 21856287 T G rs200972634 DNAH11 Nonsynonymous SNV M3512R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.74 306957 chr8 27516927 27516927 C T rs376680064 SCARA3 Nonsynonymous SNV R414W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 306958 chr22 35782760 35782760 C A rs1032960920 HMOX1 Nonsynonymous SNV P76H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 306959 chr8 38948811 38948811 A G rs770133199 ADAM9 Synonymous SNV R748R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.445 306960 chr22 38046679 38046679 G A rs139958398 SH3BP1 Synonymous SNV P515P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.142 306961 chr8 41566297 41566297 T C ANK1 Nonsynonymous SNV K666R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 306962 chr8 42587175 42587175 T C rs779219696 CHRNB3 Nonsynonymous SNV I242T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 306963 chr7 36438756 36438756 A G ANLN Nonsynonymous SNV N81D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.155 306964 chr3 20043330 20043330 T C rs971949918 PP2D1 Synonymous SNV Q94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 306965 chr22 41305165 41305165 G C XPNPEP3 Nonsynonymous SNV A299P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 306966 chr3 33038559 33038559 T C GLB1 Nonsynonymous SNV D540G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.584 306967 chr22 43610154 43610154 C T rs138461481 SCUBE1 Synonymous SNV P665P 0.001 0 0.007 0 1 0 0 2 0 0 0 0 18.01 306968 chr9 130493460 130493460 C T rs765890755 TTC16 Stop gain R787X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 306969 chr22 44031082 44031082 - G rs755730673 EFCAB6 Frameshift insertion G515Wfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 306970 chr8 77617656 77617656 T C rs747320708 ZFHX4 Nonsynonymous SNV C445R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 306971 chr19 48523126 48523126 C A rs986727643 ELSPBP1 Nonsynonymous SNV A169D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 306972 chr8 113841969 113841969 G A rs754805822 CSMD3 Nonsynonymous SNV T472I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 306973 chr8 77616716 77616716 C T rs187480056 ZFHX4 Synonymous SNV I131I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 306974 chr9 110249984 110249984 G A rs61749200 KLF4 Synonymous SNV L231L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 1.586 306975 chr9 115805169 115805169 C T rs142041184 ZFP37 Nonsynonymous SNV E592K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 306976 chr9 117168668 117168668 C T rs373552185 WHRN Nonsynonymous SNV V384I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.9 306977 chr19 51870762 51870764 AGA - rs768471991 CLDND2 F126del 0.001 0 0 0 1 0 0 0 0 0 0 0 306978 chr19 52002862 52002862 G A rs569989918 SIGLEC12 Nonsynonymous SNV T188M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.243 306979 chr9 139904540 139904540 G A ABCA2 Synonymous SNV L2130L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.58 306980 chr9 139910760 139910760 C T rs748093466 ABCA2 Synonymous SNV A1029A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 306981 chrX 63410517 63410517 G A rs775309548 AMER1 Nonsynonymous SNV P884S 0.002 0 0 0 2 0 0 0 1 0 0 0 24.8 306982 chrX 70522322 70522322 C T rs149388946 ITGB1BP2 Nonsynonymous SNV P78L 0.002 0 0 0 2 0 0 0 1 0 0 0 22.2 306983 chrX 73524204 73524204 G A rs141192529 ZCCHC13 Nonsynonymous SNV G35S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 21.5 306984 chr3 66457866 66457866 C T rs112544934 LRIG1 Nonsynonymous SNV E329K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 306985 chrX 75004094 75004094 C T rs61732440 MAGEE2 Nonsynonymous SNV E265K 0.002 0 0 0 2 0 0 0 1 0 0 0 22.2 306986 chr9 140508916 140508916 T G ARRDC1 Nonsynonymous SNV Y262D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 306987 chrX 79286471 79286471 A T rs148996612 TBX22 Nonsynonymous SNV Y355F 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 23.6 306988 chr10 121355963 121355963 G A rs768104973 TIAL1 Synonymous SNV D5D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.975 306989 chr3 71803804 71803804 C T rs753435743 GPR27 Nonsynonymous SNV L202F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 306990 chrX 107084157 107084157 C T rs754364027 MID2 Nonsynonymous SNV R88W 0.002 0 0 0 2 0 0 0 1 0 0 0 32 306991 chr3 98530132 98530132 T C rs771691426 DCBLD2 Synonymous SNV Q494Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.099 306992 chr9 131749993 131749993 G A rs375340522 NUP188 Nonsynonymous SNV R797Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 306993 chr9 131765729 131765729 T C rs371155123 NUP188 Nonsynonymous SNV I1477T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 306994 chr9 132571703 132571703 G A TOR1B Synonymous SNV V284V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 306995 chr9 132631249 132631249 T G USP20 Nonsynonymous SNV V415G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 306996 chr9 34649459 34649459 C A rs111033792 GALT Nonsynonymous SNV H210Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic/Likely pathogenic 26.2 306997 chr9 35546773 35546773 G C RUSC2 Nonsynonymous SNV K85N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 306998 chr19 55089054 55089054 T C rs929013631 LILRA2 Nonsynonymous SNV C460R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.294 306999 chr19 55089055 55089055 G C rs1047476763 LILRA2 Nonsynonymous SNV C460S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 307000 chr19 55089077 55089077 C T rs939011422 LILRA2 Synonymous SNV T467T 0.002 0 0 0 2 0 0 0 0 0 0 0 3.521 307001 chr19 55089096 55089096 C T rs895049763 LILRA2 Nonsynonymous SNV H474Y 0.002 0 0 0 2 0 0 0 0 0 0 0 1.861 307002 chr19 55089138 55089138 G C rs1010842092 LILRA2 Nonsynonymous SNV G488R 0.002 0 0 0 2 0 0 0 0 0 0 0 1.466 307003 chr19 55089141 55089141 C A rs1022519764 LILRA2 Nonsynonymous SNV H489N 0.002 0 0 0 2 0 0 0 0 0 0 0 4.607 307004 chr19 55089143 55089143 T C rs902354710 LILRA2 Synonymous SNV H489H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.21 307005 chr9 35957155 35957155 G C OR2S2 Nonsynonymous SNV P314R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 307006 chrY 15560941 15560941 A C UTY Nonsynonymous SNV S111A 0.002 0 0 0 2 0 0 0 1 0 0 0 17.45 307007 chr19 55870040 55870040 C T rs564738371 FAM71E2 Synonymous SNV T732T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 307008 chr4 118975203 118975203 G A rs145505386 NDST3 Synonymous SNV T46T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.806 307009 chr1 1007433 1007433 C T rs185263154 RNF223 Nonsynonymous SNV A172T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.363 307010 chr4 119689392 119689392 T C rs201472807 SEC24D Synonymous SNV P373P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.659 307011 chr4 121706245 121706245 G C rs763221182 PRDM5 Nonsynonymous SNV T366S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 307012 chr4 121737624 121737624 C T rs17051264 PRDM5 Synonymous SNV Q252Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.45 307013 chr8 23540307 23540307 C G NKX3-1 Nonsynonymous SNV Q32H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 307014 chr1 2453172 2453172 G A rs776663713 PANK4 Synonymous SNV F64F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 307015 chr9 140137343 140137343 C T rs772116718 TUBB4B Synonymous SNV L225L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.458 307016 chr4 135121643 135121643 G A PABPC4L Nonsynonymous SNV R178C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 307017 chr1 3432059 3432059 A G rs761476864 MEGF6 Nonsynonymous SNV C213R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 307018 chr10 24813688 24813688 A G KIAA1217 Nonsynonymous SNV I648V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 307019 chr4 144480996 144480996 G A rs372575548 GUSBP5 0 0 0.003 0 0 0 0 1 0 0 0 0 7.548 307020 chr4 148787905 148787905 G A rs199963512 ARHGAP10 Nonsynonymous SNV G214S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 307021 chr9 15777714 15777714 A G rs554764647 CCDC171 Nonsynonymous SNV S938G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.964 307022 chr4 151773370 151773372 TTC - rs767203510 LRBA E1164del 0 0 0.003 0 0 0 0 1 0 0 0 0 307023 chr4 151773373 151773373 A G rs756364975 LRBA Synonymous SNV T1163T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.15 307024 chr4 151792579 151792579 T C rs372154550 LRBA Nonsynonymous SNV H762R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 307025 chr4 15443939 15443939 A T rs201187280 C1QTNF7 Nonsynonymous SNV E136V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 307026 chr19 58291083 58291083 T C ZNF586 Synonymous SNV I376I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.329 307027 chr4 155160382 155160382 C T DCHS2 Nonsynonymous SNV E2478K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.923 307028 chr9 136320556 136320556 G T rs895235456 ADAMTS13 Nonsynonymous SNV Q1133H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 307029 chr9 32635157 32635157 C T rs55890462 TAF1L Nonsynonymous SNV D141N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 14.52 307030 chr9 34263145 34263145 T C rs753852468 KIF24 Nonsynonymous SNV D490G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 307031 chr10 35896713 35896713 T A GJD4 Nonsynonymous SNV V91D 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 307032 chr1 11718427 11718427 - A FBXO44 Frameshift insertion Y125Ifs*143 0.001 0 0 0 1 0 0 0 0 0 0 0 307033 chr10 43882669 43882669 T C rs143738691 HNRNPF Nonsynonymous SNV I222V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.107 307034 chr4 166981288 166981288 C G TLL1 Nonsynonymous SNV T652S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.857 307035 chr1 11850804 11850804 A G MTHFR Nonsynonymous SNV V676A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 307036 chr4 175231175 175231175 C G rs144338962 CEP44 Nonsynonymous SNV L285V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 307037 chr4 183659649 183659649 A G rs199769082 TENM3 Nonsynonymous SNV M1111V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 307038 chrX 150889898 150889898 G C rs377037092 FATE1 Nonsynonymous SNV R89T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.23 307039 chr9 140917904 140917904 G C rs192692322 CACNA1B Synonymous SNV R903R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.154 307040 chrX 152584544 152584544 C T rs782233913 PNMA6F Stop gain W530X 0 0.003 0 0 0 1 0 0 0 0 0 0 6.647 307041 chr4 187172386 187172386 C T rs146650319 KLKB1 Nonsynonymous SNV L258F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 307042 chr4 187525560 187525560 C T rs201158459 FAT1 Nonsynonymous SNV E3507K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.204 307043 chrX 153137616 153137616 T C rs782416322 L1CAM Nonsynonymous SNV M126V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.004 307044 chrX 153248193 153248193 T G rs187130858 TMEM187 Nonsynonymous SNV F227C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 307045 chr8 99170206 99170206 T C POP1 Nonsynonymous SNV S928P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.125 307046 chr9 139568293 139568293 G A rs767338891 AGPAT2 Nonsynonymous SNV R218W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 27.6 307047 chrX 103495142 103495142 C G ESX1 Nonsynonymous SNV V330L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 307048 chrX 103495144 103495144 C G rs782262740 ESX1 Nonsynonymous SNV R329P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 307049 chr4 38138916 38138916 G A rs145834587 TBC1D1 Nonsynonymous SNV R168Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.211 307050 chrX 117043737 117043737 G A rs779479984 KLHL13 Nonsynonymous SNV T292M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 307051 chr4 39293273 39293273 T C rs775269581 RFC1 Nonsynonymous SNV K1026E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 307052 chrX 124455537 124455537 T C rs145777792 TEX13C Synonymous SNV S523S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.175 307053 chrX 129765512 129765512 A G rs200482061 ENOX2 Synonymous SNV D486D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.387 307054 chr9 113173397 113173397 C T rs372520494 SVEP1 Synonymous SNV T2198T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 307055 chr4 4304443 4304443 T C rs151290923 ZBTB49 Nonsynonymous SNV C294R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.174 307056 chrX 132438777 132438777 C T GPC4 Nonsynonymous SNV C423Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 307057 chr9 114341092 114341092 T C rs775148986 PTGR1 Nonsynonymous SNV D212G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 307058 chr4 54440133 54440133 G C rs199747919 LNX1 Nonsynonymous SNV L13V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 307059 chrX 78618180 78618180 A T ITM2A Synonymous SNV T106T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.49 307060 chr1 26673075 26673075 C T rs375363720 CRYBG2 Nonsynonymous SNV R25Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 307061 chrX 92927821 92927823 TTC - NAP1L3 E161del 0 0.003 0 0 0 1 0 0 0 0 0 0 307062 chr4 629747 629747 C T rs374915809 PDE6B Nonsynonymous SNV R234C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 307063 chr1 31406154 31406154 G T rs770789574 PUM1 Synonymous SNV T1157T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.399 307064 chr9 123673690 123673690 G T rs200832066 TRAF1 Nonsynonymous SNV F147L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 307065 chr8 618641 618641 C A ERICH1 Nonsynonymous SNV K405N 0 0 0 1 0 0 0.003 0 0 0 0 0 19.44 307066 chr1 38331495 38331495 T C rs758700003 INPP5B Nonsynonymous SNV I654V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 307067 chr4 77100703 77100703 G A rs148029250 SCARB2 Synonymous SNV P193P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.658 307068 chrX 38178107 38178107 T C RPGR Synonymous SNV G148G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.677 307069 chr10 115489080 115489080 G A rs1127684 CASP7 Nonsynonymous SNV R220H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.215 307070 chrX 49082529 49082529 C T rs782740156 CACNA1F Nonsynonymous SNV R498H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 307071 chrX 71358888 71358888 G A rs764033024 NHSL2 Nonsynonymous SNV R497Q 0 0 0.003 0 0 0 0 1 0 0 0 0 30 307072 chr20 61389662 61389662 G A rs374108238 NTSR1 Nonsynonymous SNV V321M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 307073 chr11 1017599 1017599 G A rs201325807 MUC6 Synonymous SNV S1734S 0.002 0 0 0 2 0 0 0 0 0 0 0 4.375 307074 chr4 90830526 90830526 C T rs988046286 MMRN1 Synonymous SNV T241T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 307075 chr10 124596552 124596552 G A rs373241545 CUZD1 Synonymous SNV D204D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.062 307076 chrX 9864540 9864540 A C SHROOM2 Synonymous SNV S864S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 307077 chr10 127459119 127459119 G A rs757119224 MMP21 Nonsynonymous SNV R341C 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 26.7 307078 chr10 102250557 102250557 A T rs764945657 SEC31B Synonymous SNV P852P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 307079 chr10 102747984 102747985 GA - TWNK R6Qfs*53 0 0 0.003 0 0 0 0 1 0 0 0 0 307080 chr10 102747986 102747986 - GT TWNK Frameshift insertion G8Vfs*49 0 0 0.003 0 0 0 0 1 0 0 0 0 307081 chr1 53608037 53608037 C T rs201010691 SLC1A7 Nonsynonymous SNV V29M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 307082 chr9 135781220 135781220 G A rs886063623 TSC1 Nonsynonymous SNV T531I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 307083 chr1 54681961 54681961 C G rs750023821 MRPL37 Nonsynonymous SNV Q380E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 307084 chr10 105806506 105806506 C G rs73329731 COL17A1 Nonsynonymous SNV Q787H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.4 307085 chr9 138590924 138590924 G T rs142235622 SOHLH1 Synonymous SNV G38G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.301 307086 chr1 55521701 55521701 C A rs72646509 PCSK9 Nonsynonymous SNV P279T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 307087 chr5 118865632 118865632 A G rs749858537 HSD17B4 Nonsynonymous SNV D586G 0 0 0.003 0 0 0 0 1 0 0 0 0 28 307088 chr10 113919769 113919769 C G rs745485271 GPAM Nonsynonymous SNV G601A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 307089 chr10 114575096 114575096 T G rs377156614 VTI1A Nonsynonymous SNV V203G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.6 307090 chr11 110134798 110134798 C A rs144543614 RDX Synonymous SNV P86P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.22 307091 chr9 139835725 139835725 C T rs374757784 FBXW5 Nonsynonymous SNV V479I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 307092 chr10 11805494 11805494 C T rs150874466 ECHDC3 Nonsynonymous SNV T288M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.52 307093 chr9 139911053 139911053 C T rs772275080 ABCA2 Nonsynonymous SNV A966T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.4 307094 chr5 138268278 138268278 G A rs147636961 CTNNA1 Synonymous SNV S287S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.65 307095 chr11 117052673 117052673 C A rs375824342 SIDT2 Nonsynonymous SNV D152E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.907 307096 chr11 117063351 117063351 C T rs12286490 SIDT2 Synonymous SNV S681S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.19 307097 chr11 117152402 117152402 A G rs144443870 RNF214 Synonymous SNV P441P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.69 307098 chr9 140672384 140672384 C T EHMT1 Nonsynonymous SNV S659F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.03 307099 chr11 117280512 117280512 C T rs115051850 CEP164 Synonymous SNV T1304T 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 9.841 307100 chr11 117280517 117280517 C G rs61743854 CEP164 Nonsynonymous SNV T1306S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Benign 0.005 307101 chr10 128019017 128019017 C T ADAM12 Synonymous SNV G50G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 307102 chr10 129905175 129905175 T C rs750413780 MKI67 Synonymous SNV K1283K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 307103 chr5 140755867 140755867 C G rs202008607 PCDHGA6 Nonsynonymous SNV H739Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.564 307104 chr11 121458832 121458832 C T rs771327140 SORL1 Synonymous SNV S1306S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.76 307105 chr10 49791029 49791029 T A rs775759871 ARHGAP22 Nonsynonymous SNV Y68F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 307106 chr10 103988823 103988823 G T ELOVL3 Nonsynonymous SNV Q209H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 307107 chr10 27436426 27436426 C T YME1L1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 307108 chr10 52834380 52834380 G A rs768867882 PRKG1 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.41 307109 chr10 32324557 32324557 G A rs755754639 KIF5B Synonymous SNV I285I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 307110 chr10 33510648 33510648 T G rs1046107946 NRP1 Synonymous SNV T427T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.88 307111 chr9 94171696 94171696 A G rs150612041 NFIL3 Nonsynonymous SNV S441P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 307112 chr9 94172681 94172681 G A rs114070871 NFIL3 Synonymous SNV N112N 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.479 307113 chr9 95072500 95072500 C T rs138111378 NOL8 Nonsynonymous SNV R842H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 307114 chr9 95163372 95163372 A G rs141893151 OGN 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 307115 chr9 95277024 95277024 G A rs138567683 ECM2 Nonsynonymous SNV R293C 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 307116 chr11 17113718 17113718 C T rs142820512 PIK3C2A Synonymous SNV T1139T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 307117 chr9 96055295 96055295 G A rs146038511 WNK2 Nonsynonymous SNV A1850T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.099 307118 chr5 178359660 178359660 G A rs372895006 ZFP2 Nonsynonymous SNV R449Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 307119 chr5 178413237 178413237 T C rs751420389 GRM6 Nonsynonymous SNV N673S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 307120 chr10 53921655 53921655 T C rs56047641 PRKG1 Synonymous SNV F321F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.797 307121 chr1 152275482 152275482 A G rs144643375 FLG Synonymous SNV S3960S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.214 307122 chr1 152286998 152286998 T G rs200639874 FLG Synonymous SNV R122R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.633 307123 chr1 152326290 152326290 A T rs372521054 FLG2 Nonsynonymous SNV H1324Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.357 307124 chr1 152326416 152326416 T G rs370393163 FLG2 Synonymous SNV S1282S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.135 307125 chr10 61424072 61424072 A G rs770508308 SLC16A9 Nonsynonymous SNV C30R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 307126 chr5 180632059 180632059 C A rs3857300 TRIM7 Nonsynonymous SNV A18S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 307127 chr5 31318022 31318022 A T CDH6 Nonsynonymous SNV I625F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 307128 chr9 32633307 32633307 T C rs55827525 TAF1L Synonymous SNV Q757Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.2 307129 chr10 133918329 133918329 T A rs749302804 JAKMIP3 Nonsynonymous SNV M6K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.892 307130 chr1 155112764 155112764 A - DPM3 S15Pfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 307131 chr1 155288039 155288039 G A rs149315318 FDPS Nonsynonymous SNV R43Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 307132 chr5 38885497 38885497 C T OSMR Synonymous SNV F250F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 307133 chr22 37964180 37964180 C T rs199910466 CDC42EP1 Nonsynonymous SNV R177W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 307134 chr1 156243195 156243195 G A rs151161240 SMG5 Synonymous SNV A197A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 307135 chr1 156628911 156628911 C T BCAN Synonymous SNV P907P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.995 307136 chr5 5462040 5462040 A G ICE1 Nonsynonymous SNV T865A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 307137 chr10 82331231 82331231 T C rs12257493 SH2D4B Nonsynonymous SNV L82P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 307138 chr10 82331296 82331296 G T rs77983942 SH2D4B Nonsynonymous SNV A104S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 307139 chr10 22657531 22657531 A G rs773018212 SPAG6 Nonsynonymous SNV I110M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 307140 chr22 43529397 43529397 C T MCAT Synonymous SNV E275E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 307141 chr5 68530817 68530817 G C CDK7 Synonymous SNV V5V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 307142 chr10 90774155 90774155 C T rs372459755 FAS Nonsynonymous SNV T298I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 307143 chr10 93999470 93999470 T A rs750211457 CPEB3 Nonsynonymous SNV Q213L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.012 307144 chrX 57021039 57021039 A G rs750596043 SPIN3 Synonymous SNV V114V 0.006 0 0 0 7 0 0 0 2 0 0 0 5.171 307145 chr10 43692431 43692431 G A rs372390316 RASGEF1A Synonymous SNV S455S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 307146 chr10 5922322 5922322 T G rs757648721 ANKRD16 Synonymous SNV T289T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.125 307147 chr11 105880634 105880634 C T rs772426357 MSANTD4 Synonymous SNV E222E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.43 307148 chr6 116600993 116600993 T G TSPYL1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 307149 chr6 117686781 117686781 A G rs139467403 ROS1 Nonsynonymous SNV V979A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.5 307150 chr11 113644305 113644305 G C rs61749051 ZW10 Synonymous SNV T28T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.777 307151 chr1 201182193 201182193 C T IGFN1 Synonymous SNV A2724A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.456 307152 chr6 133136507 133136507 A G SNORD101 0 0 0.003 0 0 0 0 1 0 0 0 0 9.526 307153 chr10 75277015 75277015 G A rs139393753 USP54 Nonsynonymous SNV P1000S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.636 307154 chr11 12315356 12315356 C G MICALCL Nonsynonymous SNV S126R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 307155 chr11 124496825 124496825 A T TBRG1 Nonsynonymous SNV H206L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 307156 chr6 159028326 159028326 C T rs913777599 TMEM181 Synonymous SNV I345I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 307157 chr1 214542966 214542966 A G rs369233578 PTPN14 Synonymous SNV Y1035Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.855 307158 chr11 17596323 17596323 A C rs778687487 OTOG Nonsynonymous SNV T796P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 307159 chr6 17292262 17292282 CAGCTGCCGCCGCCGCTGCAG - rs748888849 RBM24 A170_A176del 0 0 0.003 0 0 0 0 1 0 0 0 0 307160 chr6 17600912 17600912 C T rs753407400 FAM8A1 Nonsynonymous SNV A91V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 307161 chr1 36203016 36203016 C T rs55647365 CLSPN Nonsynonymous SNV R1160H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 11.41 307162 chr11 2424687 2424687 A G TSSC4 Nonsynonymous SNV H275R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 307163 chr10 126094039 126094039 T C rs375157197 OAT Nonsynonymous SNV D98G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.22 307164 chr11 27412694 27412694 C T rs149706958 LGR4 Synonymous SNV Q92Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 307165 chr10 126517333 126517333 A G ABRAXAS2 Nonsynonymous SNV Q156R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 307166 chr1 234582599 234582599 A G rs751622229 TARBP1 Nonsynonymous SNV L695P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 307167 chr1 43787301 43787301 G A rs146799667 TIE1 Nonsynonymous SNV R1042H 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 307168 chr6 35471412 35471412 C T rs765597804 TULP1 Nonsynonymous SNV R363H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307169 chr10 134726621 134726621 G A rs4880467 CFAP46 Synonymous SNV A754A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.647 307170 chr1 46087076 46087076 G A rs571042755 CCDC17 Nonsynonymous SNV A422V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 307171 chr10 134732872 134732872 C T rs763797599 CFAP46 Nonsynonymous SNV R602H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.8 307172 chr11 43920667 43920667 C T rs892556016 SEC14L1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.231 307173 chr11 44931421 44931421 G A rs763195686 TSPAN18 Nonsynonymous SNV V77I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 307174 chr1 240071834 240071834 G A rs113991226 CHRM3 Synonymous SNV T361T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.608 307175 chr11 47345340 47345340 G A rs771549246 MADD Nonsynonymous SNV R1396H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307176 chr11 119170283 119170283 G T rs144191570 CBL Nonsynonymous SNV G838V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.489 307177 chr10 26436358 26436358 G A rs201023600 MYO3A 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 26.3 307178 chr10 3145993 3145993 G A PFKP Synonymous SNV V132V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.354 307179 chr6 52993250 52993250 T C GCM1 Synonymous SNV L355L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.007 307180 chr6 56437728 56437728 C A rs768383458 DST Synonymous SNV R1834R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.49 307181 chr1 78414966 78414966 C T rs370174403 FUBP1 Synonymous SNV P600P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 307182 chr2 18741616 18741616 G C rs929811333 RDH14 Nonsynonymous SNV R75G 0.002 0 0 0 2 0 0 0 0 0 0 0 33 307183 chr6 83855259 83855259 G A DOP1A Nonsynonymous SNV S1844N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 307184 chr6 88046853 88046853 G C rs776901757 SMIM8 Nonsynonymous SNV R35P 0 0 0.007 0 0 0 0 2 0 0 0 0 33 307185 chr6 88854525 88854525 C A rs368199704 CNR1 Nonsynonymous SNV G157C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 307186 chr11 128360384 128360384 G T ETS1 Nonsynonymous SNV T57N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 307187 chr10 5435789 5435789 C T rs781816034 TUBAL3 Synonymous SNV S304S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.605 307188 chr2 27695208 27695208 T A rs143491198 IFT172 Nonsynonymous SNV N478I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 20.8 307189 chr10 63170339 63170339 T C rs766389064 TMEM26 Nonsynonymous SNV N283S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 307190 chr2 37041468 37041468 C T rs141264424 VIT Synonymous SNV N646N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 307191 chr1 110085960 110085960 G A GPR61 Nonsynonymous SNV D106N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.4 307192 chr2 47300918 47300918 G A rs549236013 TTC7A Synonymous SNV T457T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 307193 chr10 73544668 73544668 G A rs369513655 CDH23 Synonymous SNV V1841V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 1.066 307194 chr11 2435967 2435967 C T rs193163625 TRPM5 Synonymous SNV A574A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.35 307195 chr7 103050992 103050992 C T rs759670873 SLC26A5 Nonsynonymous SNV C192Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 307196 chr10 76797674 76797674 C - DUPD1 E195Sfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 307197 chr11 28098605 28098605 T C rs7941488 KIF18A Synonymous SNV Q458Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.275 307198 chr7 121756793 121756793 G A rs746536178 AASS Nonsynonymous SNV T263M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 307199 chr11 6129334 6129334 C T rs61745227 OR56B4 Nonsynonymous SNV A109V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.806 307200 chr2 74425782 74425782 C T rs555016392 MTHFD2 Nonsynonymous SNV S5F 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 307201 chr2 74425790 74425790 T G MTHFD2 Nonsynonymous SNV S8A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.798 307202 chr11 62416981 62416981 C T rs754315681 INTS5 Nonsynonymous SNV D191N 0 0 0.003 0 0 0 0 1 0 0 0 0 27 307203 chr7 130365810 130365810 G A rs200432628 TSGA13 Nonsynonymous SNV R50W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 307204 chr11 62782097 62782097 C T rs748488822 SLC22A8 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 307205 chr7 132169692 132169692 A G rs1023873239 PLXNA4 Synonymous SNV A484A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 307206 chr2 85780409 85780409 G C rs751159158 GGCX Synonymous SNV T310T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.433 307207 chr11 62886383 62886383 C T SLC22A24, SLC22A24 Stop gain W277X 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 307208 chr11 6292088 6292088 C T CCKBR Nonsynonymous SNV T289M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.092 307209 chr11 62984821 62984821 C G SLC22A25 Nonsynonymous SNV M265I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 307210 chr2 98412820 98412820 C A rs752690625 TMEM131 Nonsynonymous SNV V1021L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.6 307211 chr2 98928713 98928713 C T VWA3B Synonymous SNV H919H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.515 307212 chr7 142759536 142759536 C T rs149548079 OR6W1P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.891 307213 chr1 156640722 156640722 T C NES Synonymous SNV S1086S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.868 307214 chr11 62293532 62293532 A C rs374736188 AHNAK Nonsynonymous SNV V2786G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.9 307215 chr7 151372599 151372599 G T rs587781126 PRKAG2 Synonymous SNV P73P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.676 307216 chr11 67256743 67256743 G A rs774293360 AIP Synonymous SNV V36V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 307217 chr12 120427782 120427787 CCGCCG - rs756134754 BICDL1 A41_A42del 0.001 0 0 0 1 0 0 0 0 0 0 0 307218 chr11 68312366 68312366 G A rs771733839 PPP6R3 Synonymous SNV L5L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.068 307219 chr2 121747635 121747635 G A rs200080112 GLI2 Nonsynonymous SNV R1240H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.3 307220 chr1 167666634 167666634 C A RCSD1 Nonsynonymous SNV A204D 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 307221 chr11 71671898 71671898 C G rs772673787 RNF121 Synonymous SNV L36L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 307222 chr11 72415313 72415313 C T rs776227382 ARAP1 Nonsynonymous SNV A381T 0 0 0.003 0 0 0 0 1 0 0 0 0 26 307223 chr11 64990031 64990031 C T rs200868646 SLC22A20P 0.003 0.003 0 0 3 1 0 0 0 0 0 0 10.95 307224 chr1 174190211 174190211 C T rs201091388 RABGAP1L Synonymous SNV S43S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.2 307225 chr2 138727777 138727777 C T rs529181997 HNMT Synonymous SNV G60G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.68 307226 chr11 111594609 111594609 A G rs771422638 SIK2 Nonsynonymous SNV Y846C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 307227 chr7 3197877 3197877 T C rs112583350 LOC100129603 0 0 0.003 0 0 0 0 1 0 0 0 0 0.158 307228 chr11 6898607 6898607 C T rs537706745 OR10A4 Synonymous SNV S243S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 307229 chr1 183084684 183084684 G A rs751220972 LAMC1 Nonsynonymous SNV G414S 0.002 0 0 0 2 0 0 0 0 0 0 0 34 307230 chr11 66360170 66360170 T C rs550209025 CCDC87 Nonsynonymous SNV H106R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 307231 chr7 44796067 44796067 G A rs199684927 ZMIZ2 Nonsynonymous SNV A32T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 307232 chr11 86119202 86119202 C T rs755322182 CCDC81 Stop gain R245X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307233 chr11 8751902 8751902 C T rs200023000 ST5 Nonsynonymous SNV R312Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.73 307234 chr11 121348922 121348922 G A SORL1 Synonymous SNV Q166Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.28 307235 chr11 12246316 12246316 G A rs370855282 MICAL2 Nonsynonymous SNV R546H 0 0 0 2 0 0 0.005 0 0 0 0 0 33 307236 chr11 122827255 122827255 G A rs61748621 JHY Nonsynonymous SNV G623R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 307237 chr11 94204909 94204909 T C rs926262407 MRE11 Nonsynonymous SNV T226A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 307238 chr1 201177671 201177671 G A rs144973206 IGFN1 Nonsynonymous SNV G1217E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 307239 chr11 95825523 95825523 G C MAML2 Nonsynonymous SNV P558A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 307240 chr1 201178286 201178286 C T rs193029818 IGFN1 Nonsynonymous SNV S1422L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 307241 chr11 95825870 95825870 T A rs767621540 MAML2 Nonsynonymous SNV N442I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 307242 chr1 201178978 201179085 AAGGCAGGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGAGGCAGGTTATAGGAAGAATTTGGGGGCTCCTGAGGGAATAGGTTCAGGGAGT - IGFN1 G1664_S1699del 0.001 0 0 0 1 0 0 0 0 0 0 0 307243 chr1 201179929 201179929 A G IGFN1 Nonsynonymous SNV K1970E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 307244 chr1 201179937 201179937 G A IGFN1 Nonsynonymous SNV M1972I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.68 307245 chr1 201179946 201179946 G A IGFN1 Synonymous SNV G1975G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.583 307246 chr12 10074816 10074816 T A CLEC2A Nonsynonymous SNV H52L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 307247 chr1 201195014 201195014 G A rs79942057 IGFN1 Nonsynonymous SNV E3517K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 307248 chr1 201293617 201293617 G A rs142096411 PKP1 Nonsynonymous SNV R581H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.2 307249 chr1 202119494 202119494 T A rs922694518 PTPN7 Stop gain K312X 0.002 0 0 0 2 0 0 0 0 0 0 0 39 307250 chr2 179483212 179483212 G A rs794729440 TTN Nonsynonymous SNV P6593L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.1 307251 chr12 104335436 104335436 C T rs564418201 HSP90B1 Synonymous SNV D420D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.68 307252 chr11 75141569 75141569 G C KLHL35 Nonsynonymous SNV R36G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 307253 chr2 180008334 180008334 T C rs34321236 SESTD1 Synonymous SNV Q278Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 307254 chr1 205884219 205884219 T C rs370198353 SLC26A9 Nonsynonymous SNV D822G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.066 307255 chr11 12951723 12951723 G A rs186960104 TEAD1 Synonymous SNV T339T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.71 307256 chr7 89854811 89854811 G T rs376578471 STEAP2 Nonsynonymous SNV D139Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24 307257 chr1 212965010 212965010 G T rs143517350 NSL1 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.842 307258 chr2 187626817 187626817 C T rs369639086 FAM171B Nonsynonymous SNV T583M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 307259 chr7 97821752 97821752 G A rs774194399 LMTK2 Nonsynonymous SNV G659R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 307260 chr12 119954462 119954462 T C CCDC60 Synonymous SNV D306D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 307261 chr11 18363113 18363113 C T rs751577110 GTF2H1 Synonymous SNV L266L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.5 307262 chr12 122669154 122669154 C T rs753792682 LRRC43 Nonsynonymous SNV T80M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 307263 chr12 122864938 122864938 G A CLIP1 Nonsynonymous SNV T21I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 307264 chr12 53621236 53621236 C T RARG Nonsynonymous SNV A32T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 307265 chr8 119391768 119391768 T A rs181262135 SAMD12 Nonsynonymous SNV D165V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 307266 chr12 125834060 125834060 C T rs368828175 TMEM132B Nonsynonymous SNV P44S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 307267 chr2 209200859 209200859 G A rs145498570 PIKFYVE Synonymous SNV S1485S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.44 307268 chr12 132632628 132632628 A G NOC4L Nonsynonymous SNV T239A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 307269 chr8 133036749 133036749 G A rs141981890 OC90 Synonymous SNV I471I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.969 307270 chr12 56077654 56077654 A G rs772766723 METTL7B Nonsynonymous SNV M186V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 307271 chr11 35756976 35756976 C T rs371369046 TRIM44 Synonymous SNV G330G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 307272 chr8 141742671 141742671 T G MIR151A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 307273 chr11 66189674 66189674 G C rs201614553 NPAS4 Nonsynonymous SNV V87L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.649 307274 chr12 4599015 4599015 G T C12orf4 Synonymous SNV I323I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 307275 chr2 231742251 231742251 G A rs199839851 ITM2C Nonsynonymous SNV R186Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 307276 chr8 145139743 145139743 G A rs782414741 GPAA1 Nonsynonymous SNV A377T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 307277 chr12 48379723 48379723 G C COL2A1 Nonsynonymous SNV P449R 0 0 0.003 0 0 0 0 1 0 0 0 0 27 307278 chr1 248202294 248202294 C A OR2L2 Nonsynonymous SNV T242N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 307279 chr2 7017943 7017943 T C rs35784105 RSAD2 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.347 307280 chr2 241827922 241827922 G A rs750649606 MAB21L4 Synonymous SNV N346N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.294 307281 chr12 9086475 9086475 A C rs371446304 PHC1 Synonymous SNV T636T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 307282 chr12 52910970 52910970 C T rs764879342 KRT5 Nonsynonymous SNV R380H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 307283 chr8 26365806 26365806 G A rs144954264 PNMA2 Nonsynonymous SNV P156S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.185 307284 chr3 9506233 9506233 G T rs371224058 SETD5 Nonsynonymous SNV Q867H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.924 307285 chr11 92085655 92085655 T C FAT3 Nonsynonymous SNV L126S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 307286 chr11 93431043 93431043 G A rs963863446 CEP295 Nonsynonymous SNV E989K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 307287 chr11 5529215 5529215 C T rs147771363 UBQLN3 Nonsynonymous SNV R525Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 307288 chr11 55703200 55703200 G T rs151262425 OR5I1 Stop gain S226X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 307289 chr12 56631426 56631426 C A SLC39A5 Nonsynonymous SNV Q512K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 307290 chr11 93400797 93400797 G A rs953074699 CEP295 Nonsynonymous SNV A45T 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 307291 chr8 67743522 67743522 T G rs55857008 C8orf44-SGK3, SGK3 Synonymous SNV V167V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 307292 chr2 32617182 32617182 A T BIRC6 Nonsynonymous SNV Q305H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.9 307293 chr13 113975754 113975754 C T rs41286618 LAMP1 Synonymous SNV I304I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 307294 chr8 77764276 77764276 G A rs764848741 ZFHX4 Nonsynonymous SNV A1707T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307295 chr3 32860357 32860357 G C rs769421964 TRIM71 Nonsynonymous SNV G262A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.201 307296 chr12 6657978 6657978 C A rs574517499 IFFO1 Nonsynonymous SNV G362V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 307297 chr12 68690758 68690758 T C rs756582334 MDM1 Synonymous SNV G379G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.205 307298 chr12 70297602 70297602 G A rs756506501 MYRFL Nonsynonymous SNV R454Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307299 chr13 27847448 27847448 C T rs138870499 RASL11A Synonymous SNV Y140Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 5.163 307300 chr11 56344295 56344295 T C rs2852413 OR5M10 Nonsynonymous SNV I301M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.275 307301 chr2 61272953 61272953 C T rs373118250 PEX13 Nonsynonymous SNV R294W 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 307302 chr12 110295405 110295405 C T rs144778841 GLTP Synonymous SNV L74L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.98 307303 chr12 7864207 7864207 C T DPPA3 Nonsynonymous SNV S14F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 307304 chr3 44762770 44762770 C T rs139466603 ZNF502 Nonsynonymous SNV S154F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 307305 chr9 115408030 115408030 G A rs372461264 KIAA1958 Synonymous SNV T424T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 307306 chr12 117274061 117274061 C T RNFT2 Stop gain R392X 0 0.003 0 0 0 1 0 0 0 0 0 0 44 307307 chr12 123433351 123433351 C A rs115575449 ABCB9 Synonymous SNV S291S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 307308 chr13 52371982 52371982 T C rs185992242 DHRS12 Nonsynonymous SNV I85V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 307309 chr9 125315866 125315866 T C rs760859310 OR1N2 Nonsynonymous SNV Y126H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 307310 chr3 48698107 48698107 G A rs140688880 CELSR3 Nonsynonymous SNV T654M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 307311 chr3 49053918 49053918 C T rs145394428 DALRD3 Nonsynonymous SNV V364I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.469 307312 chr13 103443755 103443755 A T POGLUT2 Nonsynonymous SNV F233Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 307313 chr9 127644207 127644207 G A rs764334959 GOLGA1 Synonymous SNV F664F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 307314 chr9 127969901 127969901 T C rs776019249 RABEPK Nonsynonymous SNV Y38H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307315 chr3 50197092 50197092 C T rs2072053 SEMA3F Synonymous SNV L13L 0.003 0 0 0 3 0 0 0 0 0 0 0 12.04 307316 chr13 111141842 111141842 G T rs267603756 COL4A2 Synonymous SNV A1086A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.042 307317 chr3 51418509 51418511 CCA - rs782431274 DOCK3 T1872del 0.001 0 0 0 1 0 0 0 0 0 0 0 307318 chr9 130825882 130825882 C T rs376436007 NAIF1 Nonsynonymous SNV R270H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 307319 chr3 52429058 52429058 C T DNAH1 Nonsynonymous SNV R3651C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 307320 chr13 19751640 19751640 G A rs201681488 TUBA3C Synonymous SNV Y161Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.209 307321 chr11 61724421 61724421 G A BEST1 Stop gain W90X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 307322 chr14 102514917 102514917 G A rs762496944 DYNC1H1 Nonsynonymous SNV R4428H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 307323 chr9 131512988 131512988 T G rs778526165 ZER1 Synonymous SNV T422T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.149 307324 chr13 23904512 23904512 T G rs755850308 SACS Nonsynonymous SNV K4354N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 307325 chr14 103933435 103933435 A G rs757648850 MARK3 Synonymous SNV G260G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.425 307326 chr3 52786165 52786165 T A rs201270296 NEK4 Nonsynonymous SNV Q295L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 12.92 307327 chr9 133748308 133748308 C A ABL1 Synonymous SNV L323L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 307328 chr9 133759378 133759378 C T rs34372796 ABL1 Synonymous SNV A567A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.98 307329 chr12 1517367 1517367 A C ERC1 Nonsynonymous SNV K993T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 307330 chr13 31495946 31495946 C G rs555397627 MEDAG Nonsynonymous SNV S250R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307331 chr2 131797866 131797866 C T rs746393820 ARHGEF4 Synonymous SNV D1505D 0.002 0 0 0 2 0 0 0 0 0 0 0 14.69 307332 chr3 97662113 97662113 C A rs201778793 CRYBG3 Synonymous SNV P2956P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 307333 chr13 50587295 50587295 T C rs113312136 TRIM13 Synonymous SNV L407L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 307334 chr13 50964411 50964411 T - rs1005284512 DLEU1 0 0 0.003 0 0 0 0 1 0 0 0 0 307335 chr9 139329234 139329234 G A INPP5E Synonymous SNV N298N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.07 307336 chr9 139407901 139407901 C G rs768836936 NOTCH1 Nonsynonymous SNV G766R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 307337 chr13 53313266 53313266 C G CNMD Nonsynonymous SNV R38P 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307338 chr13 60413507 60413507 G A DIAPH3 Nonsynonymous SNV T675I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 307339 chr3 108308147 108308147 C A CIP2A Nonsynonymous SNV A26S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 307340 chr11 65733888 65733888 G A rs754233385 SART1 Nonsynonymous SNV R350H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 307341 chr9 139802596 139802596 A T rs199667825 TRAF2 Nonsynonymous SNV E147D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.786 307342 chr13 78477685 78477685 G C EDNRB Nonsynonymous SNV Q181E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 307343 chr3 112326088 112326088 G A rs746347308 CCDC80 Nonsynonymous SNV T814I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 307344 chr3 112724806 112724806 G A NEPRO Synonymous SNV H260H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.901 307345 chr11 6638887 6638887 T C TPP1 Nonsynonymous SNV Q117R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.401 307346 chr3 113375226 113375226 C T rs181199143 USF3 Nonsynonymous SNV R1768Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 307347 chr9 15745572 15745574 CTT - CCDC171 L881del 0 0 0.003 0 0 0 0 1 0 0 0 0 307348 chr14 103566674 103566674 G C EXOC3L4 Nonsynonymous SNV A40P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.295 307349 chr3 121822453 121822453 A G rs1015889379 CD86 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.871 307350 chr9 35869896 35869896 A G rs139602842 OR13J1 Nonsynonymous SNV F168S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 307351 chr14 20404348 20404348 G A rs769190846 OR4K1 Nonsynonymous SNV D175N 0 0 0.003 0 0 0 0 1 0 0 0 0 22 307352 chr11 73371883 73371883 G A rs746603363 PLEKHB1 Nonsynonymous SNV G140E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 307353 chr14 54418778 54418778 G A rs767590018 BMP4 Nonsynonymous SNV R55W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 307354 chr3 128706540 128706540 C T rs773157291 KIAA1257 Nonsynonymous SNV D84N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 307355 chr14 21052301 21052301 G A rs759244231 RNASE11 Synonymous SNV N111N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.026 307356 chr14 21491416 21491416 G A rs779725845 NDRG2 Nonsynonymous SNV T30M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 307357 chr14 64518794 64518799 AGAAGC - SYNE2 A2723_E2724del 0.001 0 0 0 1 0 0 0 0 0 0 0 307358 chr3 130381112 130381112 T C rs200270964 COL6A6 Synonymous SNV Y2154Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 307359 chr14 23102922 23102922 T C rs928165342 OR6J1 Synonymous SNV E265E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 307360 chr14 23467676 23467676 C T rs746926401 C14orf93 Nonsynonymous SNV C186Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 307361 chr14 68352609 68352609 G A rs548280411 RAD51B Nonsynonymous SNV R159H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 307362 chr3 139069856 139069856 A G rs761283152 MRPS22 Nonsynonymous SNV N188S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 307363 chrUn_gl000220 118163 118163 C G RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 307364 chr12 57496701 57496701 G C rs145406233 STAT6 Nonsynonymous SNV L296V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 307365 chr14 75276140 75276140 A G rs544558680 YLPM1 Nonsynonymous SNV R1527G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 307366 chr14 37641838 37641838 A C rs111430783 SLC25A21-AS1 0 0 0.01 0 0 0 0 3 0 0 0 0 0.001 307367 chr14 38266143 38266143 G C TTC6 Nonsynonymous SNV K71N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307368 chr3 160073846 160073846 A C IFT80 Nonsynonymous SNV F107L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 307369 chr3 169487268 169487268 G C rs772568987 ACTRT3 Nonsynonymous SNV S14W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 307370 chrX 153580772 153580772 C T rs782358643 FLNA Synonymous SNV S2174S 0 0 0.007 0 0 0 0 2 0 0 1 0 14.17 307371 chrX 38024082 38024082 G A rs149572123 SRPX Nonsynonymous SNV T178I 0.001 0 0.007 0 1 0 0 2 0 0 1 0 28.4 307372 chr14 96790321 96790321 C T ATG2B Nonsynonymous SNV E818K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 307373 chr12 79842790 79842790 C T rs572536317 SYT1 Synonymous SNV G385G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 307374 chrX 69495963 69495963 T C ARR3 Synonymous SNV Y59Y 0 0 0.007 0 0 0 0 2 0 0 1 0 0.351 307375 chr12 85441222 85441224 AAG - rs753731262 LRRIQ1 K220del 0.001 0 0 0 1 0 0 0 0 0 0 0 307376 chrX 9864259 9864259 G A rs373819870 SHROOM2 Nonsynonymous SNV E771K 0 0 0.007 0 0 0 0 2 0 0 1 0 23.2 307377 chrY 15591446 15591446 C G rs373506129 UTY Nonsynonymous SNV E34Q 0 0 0.007 0 0 0 0 2 0 0 1 0 16.84 307378 chr15 23006779 23006779 C G NIPA2 Nonsynonymous SNV Q156H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 307379 chr12 91348153 91348153 A C CCER1 Nonsynonymous SNV S123A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.9 307380 chr10 102056840 102056840 A C PKD2L1 Nonsynonymous SNV V314G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 307381 chr10 102676587 102676587 A T rs141230702 SLF2 Nonsynonymous SNV I149F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 307382 chr10 103901357 103901357 C T rs200137178 PPRC1 Nonsynonymous SNV P1031L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.82 307383 chr12 120966940 120966940 G A rs754079527 COQ5 Nonsynonymous SNV A2V 0.002 0 0 0 2 0 0 0 0 0 0 0 24 307384 chr10 112838719 112838719 G T ADRA2A Nonsynonymous SNV G322V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.237 307385 chr3 197501056 197501056 G C FYTTD1 Nonsynonymous SNV D211H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 307386 chr13 103391073 103391073 C A CCDC168 Nonsynonymous SNV A3992S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.972 307387 chr2 234669576 234669576 A G rs144398951 UGT1A1 Nonsynonymous SNV I215V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 307388 chr12 122292609 122292609 C T rs140788110 HPD Synonymous SNV T138T 0.002 0 0 1 2 0 0.003 0 1 0 0 0 Benign 18.59 307389 chr13 108881708 108881708 T C ABHD13 Synonymous SNV L48L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 307390 chr12 124371720 124371720 C T rs745863697 DNAH10 Nonsynonymous SNV S2834L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 307391 chr12 124382335 124382335 C T rs368623243 DNAH10 Nonsynonymous SNV P2982L 0.002 0 0 0 2 0 0 0 0 0 0 0 29.4 307392 chr14 95053766 95053766 C T SERPINA5 Nonsynonymous SNV H23Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.155 307393 chr10 124596472 124596472 C T rs144483251 CUZD1 Nonsynonymous SNV R231H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 307394 chr4 6303574 6303574 G A rs71539668 WFS1 Synonymous SNV A684A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.701 307395 chr10 13166075 13166075 C T rs150381274 OPTN Synonymous SNV S321S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.12 307396 chr4 7043350 7043350 C A rs201520565 CCDC96 Nonsynonymous SNV S439I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 307397 chr15 27222266 27222266 A G rs35752220 GABRG3 Synonymous SNV E57E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.981 307398 chr4 8271921 8271947 TGCGTGCGCGGCCTATGCCGCTGCCGC - HTRA3 C76_R84del 0.001 0 0 0 1 0 0 0 0 0 0 0 307399 chr4 8293208 8293208 G A rs369645804 HTRA3 Nonsynonymous SNV V274I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 307400 chr4 13629046 13629046 T C rs138568321 BOD1L1 Nonsynonymous SNV M56V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 307401 chr10 14882089 14882089 G C HSPA14 Nonsynonymous SNV A52P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 307402 chr10 18828464 18828464 T C rs34503140 CACNB2 Synonymous SNV S543S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.636 307403 chr13 32349453 32349453 A G RXFP2 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 307404 chr15 64385940 64385940 - GGAGAGCAGCCC rs757515727 CIAO2A S9_W10insGLLS 0.001 0 0 0 1 0 0 0 0 0 0 0 307405 chr13 43810810 43810810 C T rs756970272 ENOX1 Nonsynonymous SNV S594N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 307406 chr10 23235189 23235189 A G ARMC3 Synonymous SNV K55K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.646 307407 chr10 25312271 25312271 C T rs145338150 THNSL1 Nonsynonymous SNV A40V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 307408 chr15 41988409 41988409 A G rs201540755 MGA Nonsynonymous SNV T401A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.9 307409 chr10 27459764 27459764 C G rs145592194 MASTL Nonsynonymous SNV P626A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 307410 chr12 30867975 30867975 G C CAPRIN2 Synonymous SNV V800V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.666 307411 chr13 53227063 53227063 C T rs745759360 SUGT1 Nonsynonymous SNV A3V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 307412 chr4 42051452 42051452 A G rs138544445 SLC30A9 Nonsynonymous SNV M266V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 307413 chr12 32908236 32908236 - C rs770210023 YARS2 Frameshift insertion H192Sfs*37 0 0 0 1 0 0 0.003 0 0 0 0 0 307414 chr3 24009407 24009407 C G NR1D2 Nonsynonymous SNV A404G 0.003 0 0 0 4 0 0 0 0 0 0 0 24.4 307415 chr4 44680658 44680658 C T rs200598044 GUF1 Nonsynonymous SNV R7W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 307416 chr12 46246118 46246118 A G rs772423372 ARID2 Synonymous SNV Q1404Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 307417 chr15 78805502 78805502 G A rs373162675 HYKK Synonymous SNV A24A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.009 307418 chr15 59971886 59971886 C A BNIP2 Nonsynonymous SNV G14V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 307419 chr10 50167771 50167771 C T WDFY4 Synonymous SNV C2712C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 307420 chr14 74058716 74058716 C T rs753858819 ACOT4 Nonsynonymous SNV P18L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 307421 chr4 77283436 77283436 C T CCDC158 Synonymous SNV R621R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 307422 chr15 67279550 67279550 G T rs182619006 LOC102723493 0 0 0.003 0 0 0 0 1 0 0 0 0 7.077 307423 chr15 67664849 67664849 C G rs770406985 IQCH Nonsynonymous SNV A133G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.752 307424 chr15 68583359 68583359 A G FEM1B Nonsynonymous SNV I555V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 307425 chr12 52400840 52400840 G A GRASP Nonsynonymous SNV E13K 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 307426 chr12 52408830 52408830 G C rs573773880 GRASP Synonymous SNV G202G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.823 307427 chr12 52470968 52470968 C T rs200104884 ATG101 Synonymous SNV A217A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.43 307428 chr15 70959509 70959509 T C rs371543852 UACA Nonsynonymous SNV I1159V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 307429 chr4 83839328 83839328 A C rs144788840 THAP9 Nonsynonymous SNV K655Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 307430 chr3 47454353 47454353 C T rs200553671 PTPN23 Nonsynonymous SNV P1404L 0.003 0 0.003 0 3 0 0 1 0 0 0 0 8.027 307431 chr12 53452985 53452985 C A rs769614118 TNS2 Synonymous SNV T530T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.96 307432 chr4 106197645 106197645 G T TET2 Nonsynonymous SNV R1993L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 307433 chr10 93999484 93999484 C T rs766324515 CPEB3 Synonymous SNV A208A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 307434 chr4 122301703 122301703 G A rs139347755 QRFPR Nonsynonymous SNV L34F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.1 307435 chr15 89421324 89421324 G A rs201017497 HAPLN3 Synonymous SNV S320S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 307436 chr4 126241635 126241635 A T rs375109338 FAT4 Nonsynonymous SNV T1357S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.453 307437 chr15 90320346 90320346 C G rs201925785 MESP2 Nonsynonymous SNV P253R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 307438 chr4 149357780 149357780 T C rs374204565 NR3C2 Nonsynonymous SNV N78S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 307439 chr16 21011742 21011742 G A DNAH3 Synonymous SNV P2029P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.286 307440 chr16 1252184 1252184 C T rs553094518 CACNA1H Synonymous SNV A578A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 307441 chr16 1260047 1260047 C T rs372000875 CACNA1H Nonsynonymous SNV R1253C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.5 307442 chr16 23391744 23391744 C T rs61759916 SCNN1B Synonymous SNV I515I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.41 307443 chr16 15977872 15977872 G A rs187248921 FOPNL Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 307444 chr12 80191018 80191018 C G rs763764547 PPP1R12A Nonsynonymous SNV R694T 0.002 0 0 0 2 0 0 0 0 0 0 0 20.5 307445 chr14 63174828 63174828 C T rs140205536 KCNH5 Nonsynonymous SNV G789S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.76 307446 chr4 177083292 177083292 C T rs142984215 WDR17 Synonymous SNV A939A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.14 307447 chr12 80904142 80904142 G T PTPRQ Nonsynonymous SNV L694F 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 307448 chr4 184204013 184204013 G A rs767941267 WWC2 Nonsynonymous SNV C946Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 307449 chr11 108384592 108384592 G A rs139699634 EXPH5 Nonsynonymous SNV P360S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 307450 chr14 68045886 68045886 G A rs762026637 PLEKHH1 Nonsynonymous SNV R962Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 307451 chr16 22926449 22926449 G A rs533578919 HS3ST2 Nonsynonymous SNV D224N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 307452 chr14 62259564 62259564 G A SNAPC1 Nonsynonymous SNV S339N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.46 307453 chr12 93100786 93100786 C T rs371893028 C12orf74 Nonsynonymous SNV R127W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 307454 chr16 2546327 2546327 C T rs373914077 TBC1D24 Nonsynonymous SNV R60W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.2 307455 chr16 31477975 31477975 T G ARMC5 Nonsynonymous SNV I858S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 307456 chr16 27236511 27236511 C T rs768952475 NSMCE1 Synonymous SNV S256S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 307457 chr16 2983257 2983257 C T rs374956718 FLYWCH1 Nonsynonymous SNV A308V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 307458 chr11 117100220 117100220 C T PCSK7 Nonsynonymous SNV R114Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307459 chr14 69695743 69695745 GTT - EXD2 V58del 0 0.003 0 0 0 1 0 0 0 0 0 0 307460 chr13 100622680 100622682 GGC - ZIC5 P424del 0.002 0 0 0 2 0 0 0 0 0 0 0 307461 chr16 31088124 31088124 C T rs147402206 ZNF646 Nonsynonymous SNV S160L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 307462 chr3 126741128 126741128 C T rs147741166 PLXNA1 Synonymous SNV S1413S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 15.74 307463 chr3 127298606 127298606 T C rs35293898 TPRA1 Nonsynonymous SNV I79V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 307464 chr3 127379826 127379826 G A rs35388535 PODXL2 Nonsynonymous SNV E319K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.37 307465 chr16 31214026 31214026 C T rs200801274 PYCARD-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 307466 chr16 4563041 4563041 T C CDIP1 Nonsynonymous SNV H89R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 307467 chr16 4790270 4790270 T G rs746387711 C16orf71 Synonymous SNV G131G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.326 307468 chr16 55883619 55883619 G A rs762821580 CES5A Nonsynonymous SNV P447L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 307469 chr16 48304004 48304004 C T LONP2 Synonymous SNV L310L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 307470 chr13 23929515 23929515 A T rs752472671 SACS Nonsynonymous SNV D265E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.504 307471 chr3 138384013 138384013 T C PIK3CB Nonsynonymous SNV D358G 0.003 0 0 0 3 0 0 0 0 0 0 0 25.9 307472 chr16 49407976 49407976 G A rs201953780 C16orf78 Synonymous SNV Q42Q 0 0 0.007 0 0 0 0 2 0 0 0 0 8.762 307473 chr5 36985032 36985032 G A NIPBL Nonsynonymous SNV D584N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.62 307474 chr16 49672390 49672390 T G ZNF423 Nonsynonymous SNV T108P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.911 307475 chr5 37816042 37816042 C T rs772460903 GDNF Nonsynonymous SNV R116Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 25.8 307476 chr11 125547791 125547791 C G rs759259941 ACRV1 Nonsynonymous SNV E152Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 307477 chr11 126873714 126873714 G A rs11220699 KIRREL3-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 5.099 307478 chr15 101436017 101436017 A G LOC101927751 0.001 0 0 0 1 0 0 0 0 0 0 0 1.427 307479 chr5 54522446 54522446 G A MCIDAS Synonymous SNV L89L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 307480 chr13 41654883 41654883 A G rs201344732 WBP4 Synonymous SNV K286K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.105 307481 chr3 169820440 169820440 G A rs767512537 PHC3 Nonsynonymous SNV P875L 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 307482 chr13 46103944 46103944 C T rs368277556 COG3 Nonsynonymous SNV A750V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 307483 chr3 172232691 172232691 C T TNFSF10 Nonsynonymous SNV C77Y 0.003 0 0 0 3 0 0 0 0 0 0 0 26.9 307484 chr16 716034 716034 C T rs374938124 WDR90 Synonymous SNV L1507L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.565 307485 chr15 41195371 41195371 C T rs201549756 VPS18 Synonymous SNV A918A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 307486 chr15 41650358 41650358 C T rs746557428 NUSAP1 Nonsynonymous SNV L165F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 307487 chr15 41796746 41796746 C T rs924971215 LTK Nonsynonymous SNV G608E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 307488 chr15 42138502 42138502 C T JMJD7-PLA2G4B, PLA2G4B Stop gain Q568X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 307489 chr15 42170603 42170603 G A rs770724539 SPTBN5 Nonsynonymous SNV S1136L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 307490 chr16 77228251 77228251 C T MON1B Synonymous SNV F19F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 307491 chr16 780934 780934 C T rs143357956 CIAO3 Synonymous SNV A367A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 307492 chr16 790964 790964 C - CIAO3 A8Rfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 307493 chr14 100758752 100758752 G A rs771297483 SLC25A29 Synonymous SNV P194P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 307494 chr5 93076964 93076964 C T rs530516757 POU5F2 Synonymous SNV G102G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.751 307495 chr16 85143977 85143977 C T rs758180795 FAM92B Nonsynonymous SNV R37H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 307496 chr15 51634199 51634199 C G rs762013122 GLDN Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.15 307497 chr5 98129080 98129080 G A rs199960380 RGMB Nonsynonymous SNV V313M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 307498 chr3 197408149 197408149 G A rs758189078 RUBCN Nonsynonymous SNV R761W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 307499 chr15 55929515 55929515 C G rs10518816 PRTG Nonsynonymous SNV V826L 0.002 0 0.007 0 2 0 0 2 0 0 0 0 23.3 307500 chr15 55930835 55930835 G A rs61729647 PRTG Synonymous SNV N788N 0.002 0 0.007 0 2 0 0 2 0 0 0 0 10.89 307501 chr4 758804 758804 C G rs780846695 PCGF3 Synonymous SNV G211G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 307502 chr15 48736823 48736823 A G FBN1 Synonymous SNV C1984C 0 0.003 0 0 0 1 0 0 0 0 0 0 4.884 307503 chr15 64792251 64792251 A T ZNF609 Synonymous SNV P211P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 307504 chr16 89627902 89627902 A T rs375564801 SNORD68 0 0 0.003 0 0 0 0 1 0 0 0 0 9.42 307505 chr16 89774917 89774917 T C VPS9D1 Nonsynonymous SNV I574V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 307506 chr4 6863091 6863091 C T rs77071827 KIAA0232 Nonsynonymous SNV R328W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 307507 chr14 23884435 23884435 G A rs765263589 MYH7 Synonymous SNV S1776S 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.71 307508 chr16 90076399 90076399 C T DBNDD1 Synonymous SNV R19R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.174 307509 chr14 24683542 24683542 C T rs377711229 MDP1, NEDD8-MDP1 Nonsynonymous SNV R126Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 307510 chr15 75648771 75648771 G A rs189934985 MAN2C1 Synonymous SNV G820G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 307511 chr17 15976786 15976786 T G rs200471424 NCOR1 Nonsynonymous SNV Q1272H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 307512 chr5 140263681 140263681 G A PCDHA13 Nonsynonymous SNV E610K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 307513 chr17 17719222 17719222 C T rs374955252 SREBF1 Nonsynonymous SNV V755M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 307514 chr17 17070153 17070153 T C rs770707850 MPRIP Synonymous SNV L1782L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.005 307515 chr15 75188599 75188599 G A MPI Synonymous SNV L209L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.86 307516 chr14 38310803 38310803 G C rs780456192 TTC6 Nonsynonymous SNV V452L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.91 307517 chr15 77154786 77154786 C T rs114705075 SCAPER Nonsynonymous SNV S32N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.03 307518 chr15 78322422 78322422 G A rs79872087 TBC1D2B Synonymous SNV D258D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.38 307519 chr16 4024696 4024696 C T rs137924284 ADCY9 Synonymous SNV S948S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.77 307520 chr15 79748724 79748724 A G rs150235274 MINAR1 Nonsynonymous SNV K79E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 307521 chr15 80263111 80263111 C A rs34080999 BCL2A1 Nonsynonymous SNV E117D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.114 307522 chr11 56950130 56950130 C T LRRC55 Stop gain R212X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 307523 chr4 55146531 55146531 G A rs758609201 PDGFRA Synonymous SNV K735K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.59 307524 chr17 29298461 29298461 C T RNF135 Nonsynonymous SNV R124W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 307525 chr14 55818550 55818552 TGT - rs774299034 FBXO34 L482del 0 0 0 1 0 0 0.003 0 0 0 0 0 307526 chr14 61180890 61180890 A G rs144758266 SIX4 Synonymous SNV D527D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.159 307527 chr5 156934111 156934111 G A rs146355862 ADAM19 Nonsynonymous SNV P315S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 307528 chr11 59736703 59736703 G A rs145926483 OOSP1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.47 307529 chr17 38296866 38296866 G A rs184119888 CASC3 Nonsynonymous SNV G22D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 307530 chr11 6239091 6239091 G C rs750361793 FAM160A2 Synonymous SNV P575P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.21 307531 chr14 75514671 75514671 T C rs777324118 MLH3 Nonsynonymous SNV Q563R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.71 307532 chr17 39032634 39032634 T G KRT20 Nonsynonymous SNV K418N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 307533 chr14 79432498 79432498 C A rs750622704 NRXN3 Synonymous SNV G469G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 307534 chr14 89038504 89038504 G A rs149831438 ZC3H14 Synonymous SNV A122A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.934 307535 chr17 39505599 39505599 T G KRT33A Nonsynonymous SNV K144Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.7 307536 chr11 6554357 6554357 G T DNHD1 Nonsynonymous SNV M816I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.007 307537 chr16 1962023 1962023 C T rs572839597 HS3ST6 Synonymous SNV P199P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.59 307538 chr17 40120250 40120250 C T rs138346889 CNP Synonymous SNV R36R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.28 307539 chr6 12124256 12124256 C T rs760832981 HIVEP1 Nonsynonymous SNV P1410S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.012 307540 chr6 16327666 16327666 T C rs145681653 ATXN1 Synonymous SNV Q292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 307541 chr16 88776367 88776367 C T rs776269545 CTU2 Synonymous SNV Y55Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 307542 chr16 28878164 28878164 A G SH2B1 Nonsynonymous SNV E250G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 307543 chr16 29675436 29675436 C G rs139180392 SPN Synonymous SNV T129T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 307544 chr11 68707086 68707086 A G rs370985388 IGHMBP2 Nonsynonymous SNV K957E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 307545 chr16 29872514 29872514 T A CDIPT Nonsynonymous SNV N37I 0.001 0 0 0 1 0 0 0 0 0 0 0 22 307546 chr16 2237267 2237267 G A rs752837300 CASKIN1 Synonymous SNV I245I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 307547 chr15 24921567 24921567 G A NPAP1 Nonsynonymous SNV A185T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.306 307548 chr16 89351456 89351456 G A rs772608737 ANKRD11 Synonymous SNV S498S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.518 307549 chr17 505060 505060 G A rs1022810767 VPS53 Nonsynonymous SNV A369V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 307550 chr17 51900805 51900805 C G rs768138818 KIF2B Nonsynonymous SNV S137R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 307551 chr4 154625398 154625398 C T rs62323857 TLR2 Stop gain R447X 0.002 0 0 0 2 0 0 0 0 0 0 0 35 307552 chr16 31339509 31339509 T C ITGAM Nonsynonymous SNV L917P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 307553 chr15 34129109 34129109 T C rs766163909 RYR3 Synonymous SNV D3852D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.188 307554 chr16 88800375 88800375 - TCC PIEZO1 E756_D757insE 0 0.003 0 0 0 1 0 0 0 0 0 0 307555 chr16 3726073 3726073 C T rs776753733 TRAP1 Nonsynonymous SNV D207N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 307556 chr15 40558146 40558146 G A rs752441056 BUB1B-PAK6, PAK6 Nonsynonymous SNV R103H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 307557 chr17 48278798 48278798 C T rs151171179 COL1A1 Nonsynonymous SNV G26D 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.55 307558 chr4 165878442 165878442 A G rs770597096 FAM218A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.282 307559 chr16 4659928 4659928 G A rs769424037 UBALD1 Synonymous SNV T80T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 307560 chr17 48655764 48655764 C T rs201270381 CACNA1G Nonsynonymous SNV R714W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 307561 chr17 62019184 62019184 G A rs764119407 SCN4A Synonymous SNV G1486G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 307562 chr17 62034735 62034735 C G rs371312493 SCN4A Synonymous SNV L721L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 307563 chr11 82877026 82877031 AAATCG - rs765198187 PCF11 K369_S370del 0 0 0.003 0 0 0 0 1 0 0 0 0 307564 chr6 39869629 39869629 G A rs748063271 DAAM2 Nonsynonymous SNV R1008Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 307565 chr17 56247557 56247557 G T rs765833501 OR4D2 Nonsynonymous SNV V181F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 307566 chr17 56277066 56277066 G A rs575861164 EPX Nonsynonymous SNV R483H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 307567 chr6 41712443 41712443 G A rs151306066 PGC Nonsynonymous SNV R55C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.16 307568 chr11 8642094 8642094 G A TRIM66 Nonsynonymous SNV R1015C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 307569 chr15 43819963 43819963 C G MAP1A Nonsynonymous SNV R2098G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 307570 chr4 187509931 187509931 C T rs192609167 FAT1 Nonsynonymous SNV E4528K 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign 18.26 307571 chr11 9522676 9522676 C T ZNF143 Nonsynonymous SNV R305W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 307572 chr5 1232407 1232407 C T rs141321317 SLC6A18 Synonymous SNV I78I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 307573 chr12 10373275 10373275 C T GABARAPL1 Nonsynonymous SNV P136S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.69 307574 chr6 51712608 51712608 A T PKHD1 Nonsynonymous SNV F2691Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 307575 chr16 701645 701645 C T rs372872572 WDR90 Synonymous SNV V246V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.636 307576 chr6 65301098 65301098 T C EYS Synonymous SNV Q1554Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 307577 chr5 32073995 32073995 G A rs141793371 PDZD2 Nonsynonymous SNV R928Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 307578 chr12 111785348 111785350 TGT - CUX2 L1166del 0 0 0.003 0 0 0 0 1 0 0 0 0 307579 chr17 27009839 27009839 G A rs772661862 SUPT6H Synonymous SNV A564A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 307580 chr6 74363554 74363554 C T rs772365253 SLC17A5 Nonsynonymous SNV R19H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 307581 chr12 114793348 114793348 C T rs200354838 TBX5 Nonsynonymous SNV D466N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 307582 chr12 117158220 117158220 T C C12orf49 Nonsynonymous SNV N71D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 307583 chr5 37138935 37138935 C T rs370303703 CPLANE1 Synonymous SNV P2839P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.36 307584 chr12 118517228 118517228 G A rs201381615 VSIG10 Nonsynonymous SNV S283L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 307585 chr6 84233874 84233874 G T rs762615531 PRSS35 Synonymous SNV R238R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 307586 chr6 90402317 90402317 G A rs771166853 MDN1 Nonsynonymous SNV R3478C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.554 307587 chr16 775573 775573 C T rs766279961 CCDC78 Nonsynonymous SNV R92Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.36 307588 chr12 124399029 124399029 G C DNAH10 Nonsynonymous SNV E3384D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 307589 chr15 85326162 85326162 A G rs756436525 ZNF592 Nonsynonymous SNV I86V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.007 307590 chr17 78058620 78058620 G A rs201907038 CCDC40 Nonsynonymous SNV A690T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.205 307591 chr17 78261928 78261928 C T rs112089914 RNF213 Synonymous SNV S192S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.463 307592 chr12 132837572 132837572 G A GALNT9 Synonymous SNV V241V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 307593 chr12 133198396 133198396 A G rs767513042 P2RX2 Synonymous SNV P346P 0 0 0.007 0 0 0 0 2 0 0 0 0 0.052 307594 chr18 10699087 10699087 C G rs79992793 PIEZO2 Nonsynonymous SNV R2064T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.57 307595 chr15 89424910 89424910 G A rs748805350 HAPLN3 Synonymous SNV T57T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 307596 chr6 119234574 119234574 T C MCM9 Nonsynonymous SNV I306V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 307597 chr12 1702948 1702948 G A rs144026355 FBXL14 Synonymous SNV L95L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.325 307598 chr17 79866888 79866888 G A rs745440063 PCYT2 Synonymous SNV P68P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 307599 chr12 26639108 26639108 C T rs765528967 ITPR2 Nonsynonymous SNV A1914T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 307600 chr6 138202401 138202401 C A rs750153407 TNFAIP3 Nonsynonymous SNV A773D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 307601 chr6 143754985 143754985 G A rs192068876 ADAT2 Nonsynonymous SNV A65V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 307602 chr6 144765490 144765490 T C rs146950358 UTRN Nonsynonymous SNV I529T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 307603 chr12 33579218 33579218 G C rs185570590 SYT10 Nonsynonymous SNV P122A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 307604 chr12 39047732 39047732 C A rs181331897 CPNE8 Synonymous SNV A549A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 307605 chr17 8526402 8526402 C T MYH10 Nonsynonymous SNV G55R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 307606 chr18 43219762 43219762 C A rs762462493 SLC14A2 Nonsynonymous SNV P299T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 307607 chr18 43568681 43568681 G A rs371122665 PSTPIP2 Stop gain Q334X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 307608 chr12 46240664 46240664 T C rs61925813 ARID2 Synonymous SNV H508H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.034 307609 chr16 11785455 11785455 T G rs146201777 TXNDC11 Nonsynonymous SNV T79P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 307610 chr18 48447555 48447555 A G rs768575693 ME2 Nonsynonymous SNV K352E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 307611 chr18 19283621 19283621 C T rs781043276 ABHD3 Nonsynonymous SNV V84I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 307612 chr5 102894744 102894744 T C rs372682353 NUDT12 Nonsynonymous SNV N193S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 307613 chr6 153073319 153073319 A G rs377676412 VIP Nonsynonymous SNV T3A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 307614 chr12 50745012 50745012 G A FAM186A Nonsynonymous SNV S1868F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307615 chr12 50748611 50748611 G T rs888235740 FAM186A Nonsynonymous SNV N668K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 307616 chr16 15982400 15982417 CCTGCTCGCACTCACCAG - rs769789210 FOPNL A9del 0.002 0 0 0 2 0 0 0 0 0 0 0 307617 chr12 51072463 51072463 A T DIP2B Synonymous SNV V306V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 307618 chr12 51382191 51382191 T C rs767778859 SLC11A2 Nonsynonymous SNV M531V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.143 307619 chr12 52695711 52695711 G A KRT86 Nonsynonymous SNV G4E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 307620 chr5 127670509 127670509 T C rs1012848341 FBN2 Nonsynonymous SNV N1334S 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 307621 chr5 130834202 130834202 A G rs759049658 RAPGEF6 Synonymous SNV L451L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.762 307622 chr12 53722033 53722033 C A SP7 Nonsynonymous SNV G398V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 307623 chr12 54797080 54797080 G A rs148483027 ITGA5 Nonsynonymous SNV S602L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 307624 chr18 8807055 8807055 A G MTCL1 Synonymous SNV E867E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 307625 chr16 2367289 2367289 C T rs146349964 ABCA3 Nonsynonymous SNV S369N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.53 307626 chr16 24801570 24801570 G A TNRC6A Nonsynonymous SNV G536D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.76 307627 chr17 58143582 58143582 G T HEATR6 Nonsynonymous SNV D468E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 307628 chr19 1011176 1011176 G C rs777847759 TMEM259 Nonsynonymous SNV H412Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 307629 chr7 1518508 1518508 T C rs185292877 INTS1 Nonsynonymous SNV Q1448R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.46 307630 chr17 33585938 33585938 G C SLFN5 Nonsynonymous SNV D77H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.366 307631 chr12 58016370 58016370 C T SLC26A10 Nonsynonymous SNV T246I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 307632 chr19 11348448 11348448 C G rs527879848 DOCK6 Nonsynonymous SNV E614Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 307633 chr16 3142130 3142130 C T ZSCAN10 Nonsynonymous SNV G195E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.17 307634 chr7 12409208 12409208 G A VWDE Synonymous SNV S793S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.712 307635 chr7 17836520 17836520 T C rs373460077 SNX13 Synonymous SNV P863P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.324 307636 chr12 6969575 6969575 G A rs200353491 USP5 Nonsynonymous SNV G422S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 307637 chr17 71281761 71281761 G A rs763944412 CDC42EP4 Synonymous SNV P293P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.25 307638 chr16 57290926 57290926 C T rs145234410 PLLP Nonsynonymous SNV V150M 0 0 0 2 0 0 0.005 0 0 0 0 0 28.7 307639 chr5 171766747 171766747 C T rs772466608 SH3PXD2B Synonymous SNV A454A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.739 307640 chr16 57921977 57921977 G A rs199780945 CNGB1 Nonsynonymous SNV R1076C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 307641 chr16 69778878 69778878 C G NOB1 Synonymous SNV G289G 0 0 0 2 0 0 0.005 0 0 0 0 0 14.9 307642 chr19 18507367 18507367 G A rs150448187 LRRC25 Nonsynonymous SNV P136L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.832 307643 chr19 20216044 20216044 A G rs782001111 ZNF90 Nonsynonymous SNV K49E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 307644 chr16 72132622 72132622 C T rs201115361 DHX38 Nonsynonymous SNV S232L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.7 307645 chr17 79219645 79219645 C T rs114255505 SLC38A10 Nonsynonymous SNV R1024Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.401 307646 chr19 3006640 3006640 G A TLE2 Synonymous SNV D304D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.809 307647 chr17 78063997 78064092 CGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCG - CCDC40 K970_T1001del 0 0.003 0 0 0 1 0 0 0 0 0 0 307648 chr13 36124622 36124622 A C rs371821813 NBEA Synonymous SNV A2198A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.048 307649 chr16 83065701 83065701 G A rs756635742 CDH13 Nonsynonymous SNV V82I 0 0 0 1 0 0 0.003 0 0 0 0 0 2.301 307650 chr7 76911997 76911997 C T rs267601573 CCDC146 Synonymous SNV F681F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 307651 chr7 82584935 82584935 T C PCLO Synonymous SNV E1778E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.63 307652 chr7 82764437 82764437 C T PCLO Nonsynonymous SNV G810E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 307653 chr19 36159109 36159109 C T rs543784613 UPK1A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.687 307654 chr16 84497227 84497227 G A rs905003469 ATP2C2 Synonymous SNV L759L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.727 307655 chr16 83520221 83520221 C T rs149279700 CDH13 Synonymous SNV D268D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 307656 chr13 49281661 49281661 G A rs200656296 CYSLTR2 Synonymous SNV S236S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.963 307657 chr13 50678885 50678885 G A DLEU1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 307658 chr7 92147109 92147123 TGATGAGTCAACTGG - rs754890130 PEX1 P236_S240del 0.001 0 0 0 1 0 0 0 0 0 0 0 307659 chr16 84228321 84228321 C A LOC654780 0.001 0 0 0 1 0 0 0 0 0 0 0 6.919 307660 chr7 94293479 94293479 A C PEG10 Nonsynonymous SNV D204A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 307661 chr13 76414234 76414234 G A rs146792864 LMO7 Synonymous SNV S828S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 307662 chr13 77531228 77531228 G A ACOD1 Nonsynonymous SNV R185Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.194 307663 chr19 39994847 39994847 G A rs773579241 DLL3 Synonymous SNV P263P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.122 307664 chr19 40023202 40023202 G A rs145347341 EID2B Nonsynonymous SNV P81S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 307665 chr19 40433045 40433045 C T FCGBP Synonymous SNV E408E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.369 307666 chr6 35706271 35706271 C T rs78927076 ARMC12 Synonymous SNV I140I 0.003 0 0 0 3 0 0 0 0 0 0 0 15.83 307667 chr19 41072225 41072225 C A SPTBN4 Nonsynonymous SNV A2099D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 307668 chr17 58300916 58300916 A T rs201430541 USP32 Nonsynonymous SNV D488E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.813 307669 chr19 42777261 42777261 G A rs771292827 CIC Synonymous SNV S442S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.665 307670 chr16 90030610 90030610 C T rs759775934 DEF8 Synonymous SNV D285D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 307671 chr6 41002640 41002640 G C rs145878921 UNC5CL Synonymous SNV P58P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 307672 chr14 21811237 21811237 T C RPGRIP1 Nonsynonymous SNV Y1128H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 307673 chr19 4491622 4491622 C A HDGFL2 Synonymous SNV S183S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 307674 chr19 45028070 45028070 G A rs530899810 CEACAM20 Stop gain R141X 0 0 0.003 0 0 0 0 1 0 0 0 0 2.346 307675 chr14 23945334 23945334 C G rs767841311 NGDN Nonsynonymous SNV P173A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 307676 chr19 36832427 36832427 A T rs115297808 ZFP14 Nonsynonymous SNV F102I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.405 307677 chr19 36884651 36884651 C A rs114627398 ZFP82 Synonymous SNV P198P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 307678 chr14 24885499 24885499 G T NYNRIN Nonsynonymous SNV S1515I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 307679 chr17 1840143 1840143 C T rs189434887 RTN4RL1 Nonsynonymous SNV A325T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 307680 chr19 37487707 37487707 T A rs532084114 ZNF568 Nonsynonymous SNV C308S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 307681 chr17 2595752 2595752 C G CLUH Nonsynonymous SNV G1155R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 307682 chr14 34268963 34268963 G A rs756991498 NPAS3 Nonsynonymous SNV D454N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 307683 chr19 47228064 47228064 C T STRN4 Nonsynonymous SNV D539N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 307684 chr14 47426624 47426624 C T rs756963832 MDGA2 Nonsynonymous SNV S612N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 307685 chr17 73282518 73282518 C T rs138954932 SLC25A19 Nonsynonymous SNV R52H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.028 307686 chr17 73500960 73500960 G A rs200413561 CASKIN2 Synonymous SNV A293A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.669 307687 chr19 39412881 39412881 C T rs61736057 SARS2 Synonymous SNV Q130Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.45 307688 chr17 26919486 26919486 C T rs781661528 SPAG5 Nonsynonymous SNV R259H 0.002 0 0 0 2 0 0 0 0 0 0 0 15.71 307689 chr19 49409087 49409087 G A rs143005378 NUCB1 Synonymous SNV E107E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 307690 chr19 39944063 39944063 A T rs138303744 SUPT5H Nonsynonymous SNV E48V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 307691 chr19 49657445 49657445 G A rs199561704 HRC Synonymous SNV D350D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.009 307692 chr17 74274108 74274108 C T rs373025553 QRICH2 Synonymous SNV L1527L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 307693 chr6 90573617 90573617 A C rs761158676 CASP8AP2 Nonsynonymous SNV D730A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.581 307694 chr17 30611800 30611800 G A rs151142906 RHBDL3 Synonymous SNV A78A 0.002 0 0 0 2 0 0 0 0 0 0 0 12.39 307695 chr14 64669677 64669677 A G SYNE2 Nonsynonymous SNV Q6066R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 307696 chr6 100841364 100841364 A G rs138590764 SIM1 Synonymous SNV H523H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.952 307697 chr19 51503765 51503765 C A rs760025456 KLK8 Nonsynonymous SNV A49S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 307698 chr14 70039362 70039362 A G rs569667443 CCDC177 Synonymous SNV R326R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.09 307699 chr17 3848365 3848365 G A rs534288562 ATP2A3 Synonymous SNV P391P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.29 307700 chr17 80007817 80007817 G A rs368182949 RFNG Synonymous SNV A213A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.789 307701 chr14 96904210 96904210 C T AK7 Synonymous SNV L216L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 307702 chr15 101094302 101094302 C G PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.238 307703 chr15 101099239 101099239 G T rs531130583 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.932 307704 chr17 40695539 40695539 C T rs112751577 NAGLU Synonymous SNV S505S 0 0 0 2 0 0 0.005 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.05 307705 chr15 23892083 23892083 G T rs377155487 MAGEL2 Synonymous SNV T269T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.17 307706 chr19 4683889 4683889 G A rs148291050 DPP9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.586 307707 chr17 41835976 41835976 T C SOST Nonsynonymous SNV E45G 0 0 0 1 0 0 0.003 0 0 0 0 0 22 307708 chr15 31330030 31330030 C T TRPM1 Nonsynonymous SNV A836T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 307709 chr17 42431518 42431518 C G FAM171A2 Synonymous SNV S688S 0 0 0 2 0 0 0.005 0 0 0 0 0 9.64 307710 chr17 42989086 42989086 C T GFAP Nonsynonymous SNV R287H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 307711 chr19 4847790 4847790 G A rs200887974 PLIN3 Synonymous SNV H249H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.479 307712 chr19 57746655 57746655 G A rs765491946 AURKC Nonsynonymous SNV R267Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 307713 chr19 18054454 18054454 A G rs757084581 CCDC124 Nonsynonymous SNV K201R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.7 307714 chr15 41819432 41819432 G A rs140704516 RPAP1 Nonsynonymous SNV A560V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 307715 chr19 58058755 58058838 GGTTTCTCTCCAGTGTGGATTGGATGGTGCTGCATGAGGTACGACCTGCGTTTGAAGGCCTTCCCACACTCAAGGCACTTGTAT - ZNF550 K260_Y287del 0 0 0.003 0 0 0 0 1 0 0 0 0 307716 chr19 59060447 59060447 G A TRIM28 Nonsynonymous SNV S501N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 307717 chr15 45713359 45713359 A G rs144102603 SPATA5L1 Nonsynonymous SNV Y738C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 307718 chr15 48443753 48443753 G A rs746581433 MYEF2 Nonsynonymous SNV A408V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 307719 chr15 50154469 50154469 C T rs780088773 ATP8B4 Synonymous SNV V1090V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 307720 chr19 7682290 7682290 T C rs370583262 CAMSAP3 Synonymous SNV N1097N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.562 307721 chr15 59139639 59139639 A G rs371663320 MINDY2 Synonymous SNV V504V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.639 307722 chr15 59455399 59455399 C T rs149677309 MYO1E Nonsynonymous SNV E862K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 307723 chr19 8563168 8563168 G A rs546942995 PRAM1 Nonsynonymous SNV R480W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 307724 chr15 64455062 64455062 C T rs137883097 PPIB Nonsynonymous SNV V42I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 307725 chr17 56056605 56056625 TGCTGCTGCTGCTGCTGCTGC - VEZF1 Q348_Q354del 0.001 0 0 0 1 0 0 0 0 0 0 0 307726 chr15 66625615 66625615 G C rs760306170 DIS3L Nonsynonymous SNV A918P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 307727 chr15 69347771 69347771 C A rs145871646 NOX5 Nonsynonymous SNV N671K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.567 307728 chr19 9047959 9047959 A G rs375983205 MUC16 Synonymous SNV N11224N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 307729 chr15 72104188 72104188 C T NR2E3 Stop gain Q110X 0 0 0.003 0 0 0 0 1 0 0 0 0 18.58 307730 chr15 75115942 75115942 C T rs148488098 LMAN1L Synonymous SNV Y414Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.63 307731 chr15 77425627 77425627 C T rs750231791 PEAK1 Nonsynonymous SNV R1266Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 307732 chr15 77907934 77907934 G A LINGO1 Synonymous SNV N105N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.795 307733 chr15 83428294 83428294 G T rs774248135 FSD2 Nonsynonymous SNV P641T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 307734 chr17 7124115 7124115 A G rs140566084 ACADVL Nonsynonymous SNV K81R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.867 307735 chr19 55912978 55912978 G A rs200103438 UBE2S Synonymous SNV A165A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.396 307736 chr8 144392246 144392246 G A TOP1MT Synonymous SNV S467S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 307737 chr19 11916841 11916841 A G rs757021144 ZNF491 Nonsynonymous SNV M25V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 307738 chr1 111996941 111996941 A G rs779993797 ATP5PB Synonymous SNV E62E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 307739 chr17 7290713 7290713 A G TNK1 Nonsynonymous SNV N477D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 307740 chr19 56561814 56561814 C T rs114463101 NLRP5 Synonymous SNV G996G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 7.268 307741 chr19 56704261 56704261 T C rs61742910 ZSCAN5B Nonsynonymous SNV E54G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.375 307742 chr1 1139865 1139865 C T rs200680636 TNFRSF18 Synonymous SNV G104G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.711 307743 chr15 90903656 90903656 G A rs201354012 ZNF774 Nonsynonymous SNV R198H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.076 307744 chr1 11733803 11733803 C T rs770809552 FBXO6 Synonymous SNV P259P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.99 307745 chr16 1129246 1129246 T C rs202124294 SSTR5 Synonymous SNV S126S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 307746 chr1 118574410 118574410 C T rs536383245 SPAG17 Nonsynonymous SNV V1172I 0 0 0.007 0 0 0 0 2 0 0 0 0 1.58 307747 chr19 58982200 58982200 G T rs200934507 ZNF324 Nonsynonymous SNV G114V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.811 307748 chr19 59060733 59060733 T G rs202037782 TRIM28 Synonymous SNV P566P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.423 307749 chr1 145440095 145440095 C T rs143973146 TXNIP Nonsynonymous SNV R122W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 307750 chr1 146650697 146650697 G C PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.93 307751 chr17 7756761 7756761 C T KDM6B Synonymous SNV G1657G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.797 307752 chr19 45656578 45656589 TCGGGCTGCCGT - NKPD1 H369_S373delinsR 0.002 0.003 0 0 2 1 0 0 0 0 0 0 307753 chr9 14776064 14776064 G T rs369703203 FREM1 Nonsynonymous SNV P63H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 307754 chr9 15307299 15307299 C T TTC39B Nonsynonymous SNV R8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 307755 chr19 17690299 17690299 C T rs150637824 COLGALT1 Synonymous SNV D425D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.4 307756 chr16 21261309 21261309 A G rs76715570 ANKS4B Nonsynonymous SNV K141R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.441 307757 chr19 46314079 46314079 G A rs779930895 RSPH6A Synonymous SNV L224L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 10.62 307758 chr16 21273412 21273412 G A rs34045013 CRYM Synonymous SNV Y247Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.17 307759 chr16 21327243 21327243 G A rs77198019 CRYM-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 2.667 307760 chr19 46404636 46404636 C T rs769806676 MYPOP Synonymous SNV G132G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.07 307761 chr1 153330787 153330787 C T rs140601192 S100A9 Nonsynonymous SNV R10C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.691 307762 chr9 35093963 35093963 G A rs148186264 PIGO Synonymous SNV G238G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.783 307763 chr19 33131257 33131257 T G ANKRD27 Synonymous SNV L313L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.097 307764 chr18 19438586 19438586 G A MIB1 Synonymous SNV Q953Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.879 307765 chr9 90501695 90501695 C T SPATA31E1 Synonymous SNV L765L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.024 307766 chr1 158639340 158639340 C T rs762400241 SPTA1 Nonsynonymous SNV R564Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.1 307767 chr19 36583708 36583708 C - WDR62 R778Gfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 307768 chr18 31250688 31250688 A G ASXL3 Nonsynonymous SNV K177E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 307769 chr1 159900061 159900061 C T rs747438784 IGSF9 Nonsynonymous SNV R661Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 307770 chr1 161021229 161021229 G C ARHGAP30 Nonsynonymous SNV P255R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 307771 chr16 55601042 55601042 G A rs146637108 CAPNS2 Nonsynonymous SNV R125Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 307772 chr9 104449058 104449058 A G rs144427058 GRIN3A Nonsynonymous SNV I375T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 307773 chr19 37038855 37038855 T C ZNF529 Nonsynonymous SNV N184S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.234 307774 chr7 101845201 101845201 C T CUX1 Nonsynonymous SNV S886L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 307775 chr16 67281193 67281193 G C rs992063266 FHOD1 Nonsynonymous SNV P41A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 307776 chr9 114484744 114484744 T G rs140394267 SHOC1 Nonsynonymous SNV Q589H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 307777 chr9 114685137 114685137 G A rs36015756 UGCG Synonymous SNV V83V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.592 307778 chr19 39440891 39440891 C T rs942998044 FBXO17 Synonymous SNV P23P 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 307779 chr19 40331372 40331372 A G FBL Synonymous SNV G22G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.557 307780 chr19 41822588 41822588 C T rs201081145 CCDC97 Nonsynonymous SNV R51C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 307781 chr9 123675732 123675732 C T rs765463319 TRAF1 Synonymous SNV K71K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 307782 chr1 181762910 181762910 G A rs189129701 CACNA1E Nonsynonymous SNV R2003H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 307783 chr18 736829 736829 T C rs766182225 YES1 Nonsynonymous SNV N424D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 307784 chr9 125941436 125941436 G A STRBP Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 307785 chr1 18691979 18691979 C T rs538117555 IGSF21 Nonsynonymous SNV T268M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 307786 chr18 9122561 9122561 T G NDUFV2 Synonymous SNV T117T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 307787 chr1 152659635 152659635 T C LCE2B Nonsynonymous SNV S106P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 307788 chr1 200311958 200311958 T C LINC00862 0 0 0.003 0 0 0 0 1 0 0 0 0 3.127 307789 chr19 45852819 45852819 G A rs201196936 KLC3 Nonsynonymous SNV G368R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 307790 chr1 204128553 204128553 C T rs34069565 REN Synonymous SNV E221E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.143 307791 chr1 205898437 205898437 C T rs769714824 SLC26A9 Synonymous SNV S255S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 307792 chr19 48044179 48044179 C T rs375378512 ZNF541 Synonymous SNV P811P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 16.14 307793 chr17 11725244 11725244 C T rs62060898 DNAH9 Synonymous SNV I2905I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.099 307794 chr1 209796940 209796940 C T rs779309922 LAMB3 Synonymous SNV A756A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 307795 chr19 49227978 49227978 T A rs753452522 RASIP1 Nonsynonymous SNV E789D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.8 307796 chr19 49227979 49227979 T A rs756762672 RASIP1 Nonsynonymous SNV E789V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 32 307797 chr19 49703672 49703672 G A rs377359117 TRPM4 Nonsynonymous SNV V567I 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 17.7 307798 chr19 49939998 49939998 C A SLC17A7 Synonymous SNV P41P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.5 307799 chr19 15918457 15918462 GCAGGG - OR10H1 P129_L130del 0.001 0 0 0 1 0 0 0 0 0 0 0 307800 chr19 50368634 50368634 A G rs756169949 PNKP Nonsynonymous SNV L83S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 4.143 307801 chr19 50549072 50549072 C T ZNF473 Nonsynonymous SNV P446S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.6 307802 chr19 51165693 51165693 G A rs753950279 SHANK1 Synonymous SNV P2005P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 307803 chr19 17597397 17597397 C T SLC27A1 Nonsynonymous SNV R65C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 307804 chr1 224415484 224415484 G C LOC101927164 0 0 0.003 0 0 0 0 1 0 0 0 0 3.195 307805 chr1 10032143 10032143 C T rs148490817 NMNAT1 Synonymous SNV S4S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 307806 chr19 5222869 5222869 G C rs200844620 PTPRS Synonymous SNV A956A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.095 307807 chr8 25365064 25365064 - G rs773383795 CDCA2 Frameshift insertion A949Cfs*7 0.003 0 0 0 3 0 0 0 0 0 0 0 307808 chr10 6258097 6258097 C T rs542439439 PFKFB3 Synonymous SNV A83A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.61 307809 chr8 27779656 27779656 C T rs747615343 SCARA5 Synonymous SNV P116P 0.003 0 0 0 3 0 0 0 0 0 0 0 13.46 307810 chr1 22924330 22924330 C T rs141165537 EPHA8 Nonsynonymous SNV R698C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307811 chr1 229675261 229675261 G A rs369059725 ABCB10 Synonymous SNV T427T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 307812 chr1 22986016 22986016 G T rs555943495 C1QB Nonsynonymous SNV D23Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.817 307813 chr1 230410205 230410205 G A rs376135832 GALNT2 Synonymous SNV T447T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.748 307814 chr10 16737040 16737040 C T rs372364335 RSU1 Nonsynonymous SNV R185H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 307815 chr1 23417881 23417881 T A rs34493033 LUZP1 Synonymous SNV T958T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.626 307816 chr1 23420443 23420443 C A rs113219628 LUZP1 Synonymous SNV R104R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 307817 chr10 21097527 21097527 T C rs202127185 NEBL Synonymous SNV T891T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.967 307818 chr19 2933490 2933490 C T rs76980806 ZNF77 Synonymous SNV A545A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 307819 chr8 90921836 90921836 C T rs906049474 OSGIN2 Nonsynonymous SNV S29F 0.002 0 0 0 2 0 0 0 0 0 0 0 29 307820 chr17 39580490 39580490 C T rs759503740 KRT37 Nonsynonymous SNV G96S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.728 307821 chr17 39670915 39670915 A G rs138611195 KRT15 Nonsynonymous SNV I420T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 307822 chr19 36557314 36557314 C T rs199931318 WDR62 Synonymous SNV N182N 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 15.8 307823 chr17 40557005 40557005 C T rs937605470 CAVIN1 Synonymous SNV K291K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 307824 chr17 41052911 41052911 T A G6PC Nonsynonymous SNV N6K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 307825 chr19 56001705 56001705 G C SSC5D Nonsynonymous SNV K172N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 307826 chr1 24997988 24997996 GCTGCAGCT - rs765786699 SRRM1 A757_A759del 0 0 0.003 0 0 0 0 1 0 0 0 0 307827 chr1 26672158 26672158 C T rs755270063 CRYBG2 Nonsynonymous SNV V331M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.166 307828 chr1 27690541 27690541 C T rs554275379 MAP3K6 Nonsynonymous SNV R236Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 307829 chr1 31897582 31897582 A C rs3211019 SERINC2 Nonsynonymous SNV H89P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.12 307830 chr1 32085170 32085170 A G rs111252644 HCRTR1 Synonymous SNV T79T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.003 307831 chr1 32161725 32161725 C T rs201367813 COL16A1 Synonymous SNV T294T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 307832 chr1 32193063 32193063 C T rs149701008 ADGRB2 Synonymous SNV E1538E 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 12.67 307833 chr1 32201473 32201473 G A rs113351457 ADGRB2 Synonymous SNV G1074G 0 0 0.007 0 0 0 0 2 0 0 0 0 12.29 307834 chr1 32204476 32204476 G A rs112847200 ADGRB2 Nonsynonymous SNV P853L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 14.64 307835 chr1 32259445 32259445 C T rs112565608 SPOCD1 Nonsynonymous SNV G306R 0 0 0.007 0 0 0 0 2 0 0 0 0 10.26 307836 chr1 32279871 32279871 T C rs112651926 SPOCD1 Nonsynonymous SNV Q355R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 307837 chr1 32279890 32279890 T C rs112752591 SPOCD1 Nonsynonymous SNV T349A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 307838 chr1 32280724 32280724 G A rs112754928 SPOCD1 Nonsynonymous SNV R71W 0 0 0.007 0 0 0 0 2 0 0 0 0 7.914 307839 chr19 58805476 58805476 G A rs754804087 ZNF8 Nonsynonymous SNV R101Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.658 307840 chr1 207235336 207235336 G A rs779520683 PFKFB2 Nonsynonymous SNV V42I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 307841 chr19 42583192 42583192 G A rs375359400 ZNF574 Nonsynonymous SNV R235Q 0.002 0 0 0 2 0 0 0 0 0 0 0 25.9 307842 chr1 39339086 39339086 C T rs41270777 LOC105378663 0 0 0.003 0 0 0 0 1 0 0 0 0 8.728 307843 chr1 41327515 41327515 C A CITED4 Synonymous SNV P95P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.2 307844 chr1 42870229 42870229 G A RIMKLA Nonsynonymous SNV G148S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 307845 chr1 43133084 43133084 G A PPIH Synonymous SNV E133E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 307846 chr1 213251050 213251050 A G RPS6KC1 Nonsynonymous SNV K40E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 307847 chr1 43650941 43650941 T C CFAP57 Nonsynonymous SNV F295L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 307848 chr1 43895729 43895729 C T rs200813502 SZT2 Synonymous SNV S1395S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.77 307849 chr1 44402311 44402311 C T rs748894349 ARTN Synonymous SNV G187G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 307850 chr19 44571109 44571109 G A rs146299195 ZNF223 Synonymous SNV K376K 0 0 0 1 0 0 0.003 0 0 0 0 0 10.64 307851 chr1 220170353 220170353 C T rs542576870 EPRS1 Nonsynonymous SNV R838H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 307852 chr1 46663395 46663395 C T POMGNT1 Synonymous SNV R33R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 307853 chr17 71205816 71205816 C T FAM104A Nonsynonymous SNV S138N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.131 307854 chr19 45316773 45316773 G A rs758203805 BCAM Nonsynonymous SNV R227H 0.002 0 0 0 2 0 0 0 0 0 0 0 4.699 307855 chr19 47570463 47570463 G A ZC3H4 Nonsynonymous SNV P1021L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.18 307856 chr19 48199746 48199746 G A rs368566660 BICRA Synonymous SNV T1075T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 307857 chr1 6453407 6453407 G T ACOT7 Nonsynonymous SNV A18D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 307858 chr17 74395958 74395958 G A rs151336177 UBE2O Synonymous SNV C400C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.8 307859 chr19 48946840 48946840 G A rs534218101 GRIN2D Synonymous SNV L1219L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.422 307860 chr10 105238577 105238577 G A CALHM3 Synonymous SNV N71N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.982 307861 chr17 75879585 75879585 G A LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 307862 chr1 231472948 231472948 A C EXOC8 Nonsynonymous SNV Y182D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.031 307863 chr1 78034053 78034053 T C rs769151961 ZZZ3 Synonymous SNV Q316Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.45 307864 chr1 110134825 110134825 A G rs143871630 GNAI3 Synonymous SNV K345K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 307865 chr1 79093776 79093776 A G rs143077503 IFI44L Nonsynonymous SNV N59S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 307866 chr10 116698019 116698019 G A rs777873032 TRUB1 Nonsynonymous SNV A3T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 307867 chr1 110146690 110146690 T C rs767751902 GNAT2 Nonsynonymous SNV I253V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 307868 chr1 86916330 86916330 A G rs766070402 CLCA2 Nonsynonymous SNV H690R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.572 307869 chr19 50354318 50354318 G A rs1015907305 PTOV1 Nonsynonymous SNV A61T 0.002 0 0 0 2 0 0 0 0 0 0 0 8.903 307870 chr17 79496068 79496068 G A rs576252520 FSCN2 Nonsynonymous SNV V171M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 307871 chr1 89734442 89734442 A C GBP5 Synonymous SNV L96L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 307872 chr19 50916697 50916697 C T rs753797045 POLD1 Synonymous SNV F749F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 17.16 307873 chr19 52090605 52090605 G A rs754996847 ZNF175 Nonsynonymous SNV G341R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 307874 chr18 13048874 13048874 G T CEP192 Nonsynonymous SNV S695I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 307875 chr20 13756539 13756539 C A rs138569918 ESF1 Nonsynonymous SNV D339Y 0 0 0.007 0 0 0 0 2 0 0 0 0 34 307876 chr1 1371179 1371188 GGCGCGGAGC - rs749383814 VWA1 G21Afs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 307877 chr20 18295923 18295923 C A rs887230293 ZNF133 Nonsynonymous SNV A124E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.597 307878 chr1 152326344 152326344 T C FLG2 Synonymous SNV T1306T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.251 307879 chr19 55568048 55568048 G A rs200525958 RDH13 Stop gain R105X 0 0 0 2 0 0 0.005 0 0 0 0 0 35 307880 chr20 33577699 33577699 G A rs267605897 MYH7B Nonsynonymous SNV E624K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 307881 chr1 154988019 154988019 G A rs144925298 ZBTB7B Nonsynonymous SNV G295R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.02 307882 chr1 155030492 155030492 G A ADAM15 Nonsynonymous SNV A538T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.25 307883 chr1 155630552 155630552 T C rs149619998 YY1AP1 Synonymous SNV L372L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 9.416 307884 chr1 36636623 36636623 C A rs778694769 MAP7D1 Nonsynonymous SNV P33H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 307885 chr1 155735721 155735721 A G rs677219 GON4L Synonymous SNV T1181T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.663 307886 chr1 155735723 155735723 T C rs677220 GON4L Nonsynonymous SNV T1181A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 307887 chr1 39908165 39908165 G A rs147673829 MACF1 Nonsynonymous SNV E4285K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 307888 chr20 42242606 42242606 A G rs143476502 IFT52 Nonsynonymous SNV Y201C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 19.9 307889 chr11 1092211 1092211 C G rs752755037 MUC2 Nonsynonymous SNV P1344A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 307890 chr1 156838319 156838319 G A NTRK1 Synonymous SNV Q199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.461 307891 chr1 156901763 156901763 G C LRRC71 Nonsynonymous SNV R462P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 307892 chr18 77895738 77895738 C T rs377368948 ADNP2 Synonymous SNV A814A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 307893 chr18 8793104 8793104 A G rs139078896 MTCL1 Nonsynonymous SNV N666D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 307894 chr19 57642209 57642209 G A rs142699876 USP29 Synonymous SNV R722R 0 0 0 2 0 0 0.005 0 0 0 0 0 7.434 307895 chr19 57955373 57955373 T C ZNF749 Nonsynonymous SNV I199T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 307896 chr19 58629731 58629731 G T ZSCAN18 Nonsynonymous SNV D11E 0 0 0 2 0 0 0.005 0 0 0 0 0 0.002 307897 chr19 13039175 13039175 G A rs554119533 FARSA Synonymous SNV H274H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.513 307898 chr1 16577273 16577273 T C FBXO42 Synonymous SNV V682V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.109 307899 chr20 6077629 6077629 C T rs547214006 FERMT1 Nonsynonymous SNV E337K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.35 307900 chr1 54337044 54337044 C A rs760281427 YIPF1 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 307901 chr20 60905964 60905964 G C LAMA5 Synonymous SNV P1229P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.81 307902 chr1 59248189 59248189 C T rs774994834 JUN Nonsynonymous SNV G185D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 307903 chr1 68910558 68910558 C T rs61752870 RPE65 Nonsynonymous SNV R85H 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 33 307904 chr19 19337600 19337600 G A rs759439333 NCAN Nonsynonymous SNV A460T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.992 307905 chr19 9062369 9062369 G C rs374600419 MUC16 Synonymous SNV S8359S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 307906 chr10 26446318 26446318 G A rs746307707 MYO3A Nonsynonymous SNV R958H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 307907 chr10 32326260 32326260 A G rs370037346 KIF5B Synonymous SNV N211N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.733 307908 chr19 36019115 36019115 C T rs79098197 SBSN Synonymous SNV A23A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 307909 chr21 45668965 45668965 G A rs148066978 DNMT3L Synonymous SNV H313H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.752 307910 chr11 17498234 17498234 C T rs377209579 ABCC8 Synonymous SNV A30A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.6 307911 chr19 37487894 37487894 G A rs3848591 ZNF568 Nonsynonymous SNV R370H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 307912 chr20 13747479 13747479 T G rs772073092 ESF1 Nonsynonymous SNV Q537H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 307913 chr1 201822209 201822209 T C rs758610598 IPO9 Nonsynonymous SNV M225T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 307914 chr19 38103967 38103967 A G rs149940051 ZNF540 Nonsynonymous SNV I564V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.726 307915 chr19 38127099 38127099 C T rs140211229 ZFP30 Nonsynonymous SNV E115K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.569 307916 chr19 38160069 38160069 G C rs141777606 ZNF781 Nonsynonymous SNV I327M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 307917 chr1 109811238 109811238 A G rs762312152 CELSR2 Synonymous SNV T2118T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.815 307918 chr19 38384397 38384397 A C rs143790940 WDR87 Nonsynonymous SNV F649C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 307919 chr19 38384828 38384828 A G rs372168748 WDR87 Synonymous SNV A505A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 307920 chr19 38931433 38931433 C T rs138630815 RYR1 Nonsynonymous SNV L32F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 307921 chr1 204970411 204970411 G A NFASC Nonsynonymous SNV D1045N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 307922 chr1 38155287 38155287 C T rs141954200 C1orf109 Nonsynonymous SNV G151E 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 307923 chr1 207925646 207925646 C G rs780260959 CD46 Nonsynonymous SNV S30C 0 0.003 0 0 0 1 0 0 0 0 0 0 14.04 307924 chr1 39876086 39876086 A T rs191515843 KIAA0754 Nonsynonymous SNV Q50L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 307925 chr1 114214380 114214380 C T rs115953359 MAGI3 Nonsynonymous SNV T947I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 307926 chr11 33112141 33112141 A G rs138665839 CSTF3 Synonymous SNV D526D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.718 307927 chr1 210411314 210411314 G A SERTAD4 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.091 307928 chr20 25203575 25203575 T C ENTPD6 Nonsynonymous SNV S131P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 307929 chr1 2117482 2117482 C T rs765087718 FAAP20 Nonsynonymous SNV G57R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.337 307930 chr1 12091372 12091372 C T rs751409525 MIIP Nonsynonymous SNV S331L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 307931 chr10 72026028 72026028 C T rs201350017 NPFFR1 Nonsynonymous SNV A43T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 307932 chr1 43826558 43826558 G A CDC20 Nonsynonymous SNV V335M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 307933 chr1 43892176 43892176 A C SZT2 Nonsynonymous SNV S1061R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 307934 chr20 31238927 31238927 G A rs565024117 C20orf203 Nonsynonymous SNV R10W 0.001 0 0 0 1 0 0 0 0 0 0 0 4.116 307935 chr19 44679756 44679756 G A ZNF226 Nonsynonymous SNV C114Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 307936 chr22 29454997 29454997 C T rs776057378 C22orf31 Synonymous SNV T202T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 307937 chr10 79741972 79741972 C T rs202013193 POLR3A Synonymous SNV R1233R 0.003 0 0.003 0 3 0 0 1 0 0 0 0 17.07 307938 chr1 222717071 222717071 A C rs139463892 HHIPL2 Nonsynonymous SNV I261S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.572 307939 chr22 30769761 30769761 - G rs773741083 KIAA1656 0 0 0.003 0 0 0 0 1 0 0 0 0 307940 chr1 52854890 52854890 G A rs114426997 ORC1 Nonsynonymous SNV R396W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.7 307941 chr1 52940543 52940543 T A rs142347249 TUT4 Nonsynonymous SNV L896F 0.001 0 0 0 1 0 0 0 0 0 0 0 22 307942 chr1 228471333 228471333 G A rs747623752 OBSCN Nonsynonymous SNV R2956Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.724 307943 chr22 37603820 37603820 G A rs142779764 SSTR3 Nonsynonymous SNV S8L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.926 307944 chr19 48254339 48254339 C T rs75052749 NOP53 Synonymous SNV P191P 0 0 0.007 0 0 0 0 2 0 0 1 0 7.966 307945 chr1 228528447 228528447 G A rs556558311 OBSCN Nonsynonymous SNV R5852Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 307946 chr19 49132605 49132605 G T rs201378907 SPHK2 Nonsynonymous SNV G478C 0 0 0.007 0 0 0 0 2 0 0 0 0 25.9 307947 chr22 40042714 40042714 G A rs202139599 CACNA1I Synonymous SNV E430E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.772 307948 chr22 40257931 40257931 G C ENTHD1 Nonsynonymous SNV A144G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 307949 chr1 155451917 155451917 C G rs752333944 ASH1L Nonsynonymous SNV L248F 0.002 0 0 0 2 0 0 0 0 0 0 0 12.01 307950 chr19 50098733 50098733 C T PRR12 Nonsynonymous SNV R381C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 307951 chr10 103427705 103427705 C A FBXW4 Nonsynonymous SNV Q149H 0.003 0 0 0 3 0 0 0 0 0 0 0 25.5 307952 chr1 156128541 156128541 C T rs201943133 SEMA4A Nonsynonymous SNV S33L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.437 307953 chr10 106034982 106034982 A G rs151042116 GSTO2 0.003 0 0 0 3 0 0 0 0 0 0 0 24.1 307954 chr22 46509682 46509682 G A MIRLET7BHG 0 0 0.003 0 0 0 0 1 0 0 0 0 1.334 307955 chr1 24069953 24069953 G A rs774092119 ELOA Nonsynonymous SNV R13H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.1 307956 chr19 51671579 51671579 G A rs200616536 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.732 307957 chr1 24189757 24189757 T G rs758794850 FUCA1 Nonsynonymous SNV I177L 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.689 307958 chr22 46931723 46931723 C G CELSR1 Nonsynonymous SNV V449L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 307959 chr22 48935123 48935123 C T rs139394341 LOC284933 0 0 0.003 0 0 0 0 1 0 0 0 0 19.79 307960 chr1 24669401 24669401 G A GRHL3 Synonymous SNV L389L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.936 307961 chr1 246670445 246670445 G A rs893601455 SMYD3 Synonymous SNV R25R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.61 307962 chr2 103274325 103274325 G A rs755119853 SLC9A2 Nonsynonymous SNV G198S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 307963 chr11 60665406 60665406 A G rs756940319 PRPF19 Synonymous SNV F443F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.071 307964 chr2 10560078 10560078 C T rs140797104 HPCAL1 Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 307965 chr1 248224320 248224320 C T rs1015568317 OR2L3 Nonsynonymous SNV L113F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.99 307966 chr20 947872 947872 A T RSPO4 Stop gain C118X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 307967 chr21 31587576 31587576 T C rs759095576 CLDN8 Nonsynonymous SNV Q223R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 307968 chr2 119604169 119604169 G A EN1 Nonsynonymous SNV A192V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 307969 chr2 120003851 120003851 T C rs547403155 STEAP3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.931 307970 chr2 120204351 120204351 G A rs778602812 SCTR Nonsynonymous SNV A375V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 307971 chr20 1285750 1285750 G A rs774307573 SNPH Synonymous SNV T179T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 307972 chr2 122227455 122227455 C G rs150204660 CLASP1 Nonsynonymous SNV S265T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.675 307973 chr11 64597181 64597181 G A rs757884720 CDC42BPG Synonymous SNV A1243A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 307974 chr2 131673680 131673680 G C ARHGEF4 Nonsynonymous SNV A721P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.83 307975 chr1 32653713 32653713 C T TXLNA Synonymous SNV N252N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 307976 chr1 33490141 33490141 C A rs906687383 AK2 Nonsynonymous SNV V41F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 307977 chr2 152514514 152514514 T C rs115350357 NEB Nonsynonymous SNV R2056G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.4 307978 chr2 152529193 152529193 T C rs189553632 NEB Nonsynonymous SNV Y1330C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.9 307979 chr2 152536306 152536306 T C rs192117840 NEB Nonsynonymous SNV K1062E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.9 307980 chr19 58928307 58928307 C T rs148875810 ZNF584 Nonsynonymous SNV P96L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 307981 chr19 58967829 58967829 G A rs767898616 ZNF324B Synonymous SNV E506E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.673 307982 chr1 19494660 19494660 C T UBR4 Nonsynonymous SNV D1254N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 307983 chr1 196395023 196395023 A G rs74382287 KCNT2 Synonymous SNV L360L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.669 307984 chr2 160806159 160806159 G T rs145340460 PLA2R1 Stop gain C1223X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 307985 chr21 47546009 47546009 G A COL6A2 Synonymous SNV G760G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.569 307986 chr1 53723108 53723108 T C LRP8 Synonymous SNV L576L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.483 307987 chr2 179615321 179615321 G A rs147087155 TTN Stop gain R3936X 0 0 0.003 0 0 0 0 1 0 0 0 0 8.068 307988 chr1 205180622 205180622 C T rs140909469 DSTYK Synonymous SNV S14S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.7 307989 chr2 182780632 182780632 T C rs200173851 ITPRID2 Synonymous SNV N602N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.791 307990 chr2 183866869 183866869 C T NCKAP1 Nonsynonymous SNV M166I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 307991 chr1 21031125 21031125 G A rs144903116 KIF17 Nonsynonymous SNV S313L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 307992 chr11 5198966 5198966 G C rs181075486 OR52Z1 Nonsynonymous SNV S292C 0.003 0 0 0 3 0 0 0 0 0 0 0 2.9 307993 chr2 189918907 189918907 G A rs575864379 COL5A2 Nonsynonymous SNV P808L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 307994 chr2 190332268 190332268 G A rs371434035 WDR75 Nonsynonymous SNV E508K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 307995 chr2 196673456 196673456 T C rs138256384 DNAH7 Nonsynonymous SNV R3345G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 307996 chr1 114512740 114512740 T C HIPK1 Synonymous SNV D584D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.58 307997 chr11 111637020 111637020 T C rs76082838 PPP2R1B Synonymous SNV L22L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.654 307998 chr22 37887383 37887383 C T rs753598600 CARD10 Synonymous SNV Q971Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.55 307999 chr1 220366693 220366693 C T rs1031565035 RAB3GAP2 Nonsynonymous SNV G387S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 308000 chr11 5906438 5906438 A G rs770668224 OR52E4 Nonsynonymous SNV K306E 0.003 0 0 0 3 0 0 0 0 0 0 0 6.804 308001 chr1 89486233 89486233 G C rs771583582 GBP3 Nonsynonymous SNV L58V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 308002 chr22 42159255 42159255 C A rs183465473 MEI1 Nonsynonymous SNV P733Q 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 308003 chr22 42205950 42205950 C T CCDC134 Synonymous SNV N57N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 308004 chr2 215876252 215876252 C T rs758818623 ABCA12 Nonsynonymous SNV R430K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.226 308005 chr11 119216273 119216273 G - rs587776596 MFRP N167Tfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 308006 chr11 122659866 122659866 C A rs145114035 UBASH3B Nonsynonymous SNV P242H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 308007 chr11 122720827 122720827 C T rs775161741 CRTAM Nonsynonymous SNV T33M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.39 308008 chr1 949576 949576 G A ISG15 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.279 308009 chr11 7111346 7111346 G A rs373944375 RBMXL2 Nonsynonymous SNV R332Q 0.003 0 0 0 3 0 0 0 0 0 0 0 23.2 308010 chr1 95307592 95307592 A G rs768352672 SLC44A3 Nonsynonymous SNV Y230C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 308011 chr1 230846094 230846094 T C AGT Nonsynonymous SNV D168G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.09 308012 chr1 228470904 228470904 C T rs762136425 OBSCN Nonsynonymous SNV R2886C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 308013 chr1 152083030 152083030 G A rs749468061 TCHH Nonsynonymous SNV T888M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.917 308014 chr1 152085251 152085251 G C rs779965028 TCHH Nonsynonymous SNV L148V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.466 308015 chr1 234565854 234565854 G A rs139597411 TARBP1 Nonsynonymous SNV A863V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.817 308016 chr11 124502029 124502029 G A TBRG1 Synonymous SNV V377V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 308017 chr11 124530549 124530549 C T SIAE Nonsynonymous SNV S127N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 308018 chr1 153652035 153652035 G A NPR1 Nonsynonymous SNV E151K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 308019 chr2 223574592 223574592 A T rs374553526 MOGAT1 Nonsynonymous SNV T331S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.275 308020 chr1 154898883 154898883 C T rs777171676 PMVK Nonsynonymous SNV R116H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 308021 chr1 23519616 23519616 G A rs146071014 HTR1D Nonsynonymous SNV A366V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 308022 chr2 228892238 228892238 C T rs148934063 SPHKAP Nonsynonymous SNV V90M 0.001 0 0.007 0 1 0 0 2 0 0 0 0 25.3 308023 chr2 230675636 230675636 A G TRIP12 Synonymous SNV C382C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.592 308024 chr11 129752356 129752356 T C NFRKB Nonsynonymous SNV I383V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.38 308025 chr1 23720422 23720422 C T rs199991104 TCEA3 Nonsynonymous SNV V257M 0 0 0 2 0 0 0.005 0 0 0 0 0 31 308026 chr12 247637 247637 C T rs782799379 IQSEC3 Nonsynonymous SNV L67F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 308027 chr1 245133745 245133745 G A EFCAB2 Nonsynonymous SNV E9K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.02 308028 chr11 22296275 22296275 G A rs747460085 ANO5 Nonsynonymous SNV R798Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 6.881 308029 chr1 2435815 2435817 CCA - rs776138573 PLCH2 H1139del 0 0 0 2 0 0 0.005 0 0 0 0 0 308030 chr2 238253304 238253304 C T rs886044364 COL6A3 Nonsynonymous SNV E1846K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 308031 chr1 162688826 162688826 G C DDR2 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 308032 chr1 248085013 248085013 C T rs776912038 OR2T8 Nonsynonymous SNV R232C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 308033 chr12 7086631 7086631 G A LPCAT3 Synonymous SNV V415V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.565 308034 chr20 44404089 44404089 G A WFDC3 Nonsynonymous SNV P216S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.209 308035 chr2 29295741 29295741 C T rs199764925 PCARE Nonsynonymous SNV V463I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 308036 chr20 45354042 45354042 G A rs770619266 SLC2A10 Nonsynonymous SNV V123M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.1 308037 chr2 31573006 31573006 G C XDH Nonsynonymous SNV N905K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 308038 chr1 181021502 181021502 G T MR1 Stop gain E201X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 308039 chr1 181767878 181767878 C T rs770456006 CACNA1E Nonsynonymous SNV R2222W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 308040 chr2 152425807 152425807 T C rs201962649 NEB Nonsynonymous SNV K4136R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.91 308041 chr20 54934067 54934067 C T rs190100022 FAM210B Synonymous SNV A2A 0 0.003 0 0 0 1 0 0 0 0 0 0 16 308042 chr1 3427395 3427395 C T rs377032047 MEGF6 Nonsynonymous SNV G396S 0 0 0 2 0 0 0.005 0 0 0 0 0 0.581 308043 chr22 26892783 26892783 C T rs754073066 TFIP11 Synonymous SNV P472P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 308044 chr1 1959606 1959606 C T rs759924857 GABRD Nonsynonymous SNV S189L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 308045 chr1 1961584 1961584 C T rs200430448 GABRD Nonsynonymous SNV R408C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 308046 chr2 54826335 54826335 A G rs199535342 SPTBN1 Synonymous SNV G72G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 308047 chr1 200342248 200342248 G A rs562564871 LINC00862 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 308048 chr12 32481024 32481024 C T rs74831601 BICD1 Synonymous SNV R545R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 308049 chr2 69757773 69757773 G A rs765102060 AAK1 Nonsynonymous SNV T241M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 308050 chr12 40753147 40753147 C T rs200002022 LRRK2 Nonsynonymous SNV T2310M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.65 308051 chr2 71891480 71891480 G A rs368142107 DYSF Nonsynonymous SNV E1643K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 308052 chr12 49170940 49170940 G A rs376220809 ADCY6 Synonymous SNV A441A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 308053 chr12 49445098 49445098 G A rs376911077 KMT2D Nonsynonymous SNV P790S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.711 308054 chr1 4832576 4832576 A G rs753431332 AJAP1 Nonsynonymous SNV N385S 0 0 0 2 0 0 0.005 0 0 0 0 0 23.5 308055 chr1 21011400 21011400 C T rs748392634 KIF17 Synonymous SNV P711P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 308056 chr2 97009947 97009947 G A rs140868942 NCAPH Nonsynonymous SNV E98K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 308057 chr1 215824023 215824023 C G rs770161970 USH2A Nonsynonymous SNV V4752L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 308058 chr3 100086967 100086967 C G TOMM70 Nonsynonymous SNV E532Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 308059 chr2 196756492 196756492 A C rs766634195 DNAH7 Nonsynonymous SNV L1645V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.96 308060 chr1 62393476 62393476 T C PATJ Synonymous SNV N1215N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.174 308061 chr21 40795337 40795337 T C rs749881986 LCA5L Synonymous SNV Q134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 308062 chr11 64600402 64600402 C T CDC42BPG Nonsynonymous SNV A921T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.6 308063 chr2 207175072 207175072 G A rs201220827 ZDBF2 Synonymous SNV A1940A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 308064 chr3 119102046 119102046 G A rs370881248 ARHGAP31 Nonsynonymous SNV G219S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.32 308065 chr12 56975285 56975285 C T RBMS2 Nonsynonymous SNV A242V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 308066 chr1 228475594 228475594 G A rs79290523 OBSCN Synonymous SNV P3248P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.195 308067 chr11 65401748 65401748 G A rs111565484 PCNX3 Nonsynonymous SNV R1541H 0.003 0 0 0 3 0 0 0 0 0 0 0 23.4 308068 chr1 74649358 74649358 C G LRRIQ3 Nonsynonymous SNV G4A 0 0 0 2 0 0 0.005 0 0 0 0 0 23.3 308069 chr12 58004096 58004096 G T rs200996448 ARHGEF25 Nonsynonymous SNV G33W 0.001 0 0 0 1 0 0 0 0 0 0 0 23 308070 chr3 122629721 122629721 G A rs369049996 SEMA5B Nonsynonymous SNV P994L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 308071 chr11 66307174 66307174 T C rs141112014 ZDHHC24 Synonymous SNV T227T 0.003 0 0 0 3 0 0 0 0 0 0 0 7.357 308072 chr1 233515427 233515427 G A rs141838950 MAP3K21 Nonsynonymous SNV R892Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 308073 chr12 66709055 66709055 G A rs144507658 HELB Nonsynonymous SNV G631D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 308074 chr1 878644 878644 G A rs558608881 SAMD11 Nonsynonymous SNV G526R 0 0 0 2 0 0 0.005 0 0 0 0 0 22.9 308075 chr2 219229388 219229388 A G CATIP Nonsynonymous SNV Q234R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.68 308076 chr1 23743788 23743788 C T rs760602184 TCEA3 Nonsynonymous SNV A112T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 308077 chr12 81014122 81014122 G T rs746105516 PTPRQ Nonsynonymous SNV C1688F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 308078 chr1 243434337 243434337 C T rs140413256 SDCCAG8 Nonsynonymous SNV P93L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.1 308079 chr12 85449674 85449674 A G rs775801562 LRRIQ1 Nonsynonymous SNV K368R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 308080 chr22 19504148 19504148 C G rs762217494 CDC45 Synonymous SNV T467T 0.001 0 0 0 1 0 0 0 0 0 0 0 13 308081 chr11 76890940 76890940 G A rs140559111 MYO7A Nonsynonymous SNV V843M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.8 308082 chr20 10393454 10393454 T C rs760185677 MKKS Nonsynonymous SNV T237A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.002 308083 chr3 139280082 139280082 C T rs114419338 NMNAT3 Nonsynonymous SNV A88T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.704 308084 chr12 103234275 103234275 T C rs773526027 PAH Nonsynonymous SNV I406M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 22.8 308085 chr3 142443410 142443410 G A rs529480473 TRPC1 Synonymous SNV A3A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 308086 chr22 25570285 25570285 C T rs56351192 KIAA1671 Synonymous SNV S1576S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 308087 chr3 148600295 148600295 C T rs370747287 CPA3 Nonsynonymous SNV R231C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 308088 chr12 109928305 109928305 G A rs976467733 UBE3B Nonsynonymous SNV G214E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.093 308089 chr3 151166894 151166894 C T rs142668910 IGSF10 Nonsynonymous SNV S292N 0 0 0.01 0 0 0 0 3 0 0 0 0 Likely benign 0.002 308090 chr12 117484439 117484439 G A rs746431415 TESC Synonymous SNV H121H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.869 308091 chr1 32151364 32151364 G T rs767815437 COL16A1 Nonsynonymous SNV P631H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.9 308092 chr3 167183368 167183369 TG - SERPINI2 Q191Efs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 308093 chr20 31606098 31606098 G A rs199759889 BPIFB2 Nonsynonymous SNV R204H 0 0 0 2 0 0 0.005 0 0 0 0 0 15.96 308094 chr1 33612874 33612874 C T rs369476406 TRIM62 Synonymous SNV K323K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 308095 chr20 3215432 3215432 C A rs200106947 SLC4A11 Nonsynonymous SNV R82L 0 0 0 2 0 0 0.005 0 0 0 0 0 34 308096 chr1 36788028 36788028 C G EVA1B Synonymous SNV A122A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.67 308097 chr12 123463074 123463074 G A rs571152296 OGFOD2 Synonymous SNV S163S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 308098 chr1 3768945 3768945 G A rs766917872 CEP104 Synonymous SNV V9V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 308099 chr1 38288099 38288099 C A rs746506923 MTF1 Synonymous SNV P487P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 308100 chr20 3652597 3652597 C A rs530760730 ADAM33 Nonsynonymous SNV V545L 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 308101 chr20 36488311 36488311 G A rs746340982 CTNNBL1 Nonsynonymous SNV R468Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 308102 chr20 368707 368707 G A rs201854555 TRIB3 Nonsynonymous SNV R18Q 0 0 0 2 0 0 0.005 0 0 0 0 0 0.078 308103 chr3 185797801 185797801 G T rs537105512 ETV5 Nonsynonymous SNV P152Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 23.4 308104 chr12 132237879 132237879 C T rs139531115 SFSWAP Synonymous SNV S431S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 308105 chr20 376959 376959 G A rs774231585 TRIB3 Synonymous SNV R234R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.998 308106 chr3 19975141 19975141 G A rs113286461 EFHB Nonsynonymous SNV R124W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 308107 chr22 50547226 50547226 G A MOV10L1 Synonymous SNV Q232Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.375 308108 chr2 202359395 202359395 A T C2CD6 Nonsynonymous SNV Y557N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.114 308109 chr1 7798446 7798446 G A rs778877944 CAMTA1 Synonymous SNV L405L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.248 308110 chr20 61292481 61292481 G A rs138628669 SLCO4A1 Nonsynonymous SNV E359K 0.002 0 0.007 0 2 0 0 2 0 0 0 0 0.006 308111 chr1 86048580 86048580 G T rs749917983 CCN1 Nonsynonymous SNV R334L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 308112 chr3 44541957 44541957 A T ZNF852 Nonsynonymous SNV N104K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 308113 chr3 44835784 44835784 G A rs145798160 KIF15 Nonsynonymous SNV V239I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 308114 chr13 76382222 76382222 C A LMO7 Synonymous SNV T274T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.153 308115 chr2 11773079 11773079 G A GREB1 Synonymous SNV Q1627Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.941 308116 chr13 95953506 95953506 G C ABCC4 Synonymous SNV R21R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.312 308117 chr21 19169006 19169006 C T rs560313792 C21orf91 Nonsynonymous SNV S186N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 308118 chr3 47453418 47453418 G A rs560276745 PTPN23 Nonsynonymous SNV R1219H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 308119 chr2 128335752 128335752 C T rs771748990 MYO7B Synonymous SNV Y298Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 308120 chr20 10625624 10625624 C T rs147809756 JAG1 Nonsynonymous SNV R744Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.1 308121 chr2 131810505 131810505 T C FAM168B Nonsynonymous SNV T187A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 308122 chr3 50252841 50252841 T C rs755689494 SLC38A3 Nonsynonymous SNV L108S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 308123 chr3 50390836 50390836 G C CYB561D2 Nonsynonymous SNV Q110H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.006 308124 chr2 136570241 136570241 C T rs200439020 LCT Nonsynonymous SNV E665K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.343 308125 chr13 113854821 113854821 C T PCID2 Nonsynonymous SNV A16T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 308126 chr20 18122864 18122864 G A rs1050903826 PET117 Nonsynonymous SNV G37R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 308127 chr20 20180516 20180516 C T rs574432469 CFAP61 Synonymous SNV N634N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 308128 chr3 62358082 62358082 C A rs768624699 FEZF2 Synonymous SNV P154P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 308129 chr12 12653508 12653508 G A DUSP16 Nonsynonymous SNV P159L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 308130 chr3 107435532 107435532 C T rs142400819 BBX Nonsynonymous SNV R81W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 308131 chr20 25657005 25657005 A G ZNF337 Nonsynonymous SNV Y307H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 308132 chr20 32228290 32228290 G A rs777006649 CBFA2T2 Nonsynonymous SNV A481T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 308133 chr2 170402852 170402852 T C rs756785024 FASTKD1 Nonsynonymous SNV H503R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 308134 chr4 100784942 100784942 C T DAPP1 Nonsynonymous SNV R206W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 308135 chr2 241885640 241885640 G C rs537774664 CROCC2 Nonsynonymous SNV R778P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 308136 chr4 103517448 103517448 C T rs768572248 NFKB1 Nonsynonymous SNV T484M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.461 308137 chr3 119530397 119530397 G C rs762110065 NR1I2 Nonsynonymous SNV D115H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 308138 chr21 47557244 47557244 G A rs145609043 FTCD Nonsynonymous SNV A483V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 308139 chr4 10447663 10447663 T C rs763540251 ZNF518B Nonsynonymous SNV N97S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 308140 chr21 47754502 47754502 A - rs747390305 PCNT E36Nfs*99 0.001 0 0 0 1 0 0 0 0 0 0 0 308141 chr21 47754504 47754541 AACAGCATGGGATGTTCACAGTCAGTGACCACCCACCA - rs771180083 PCNT E36Gfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 308142 chr20 42935532 42935532 A T rs937902627 FITM2 Nonsynonymous SNV H174Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 308143 chr22 17444640 17444640 G A rs61743993 GAB4 Nonsynonymous SNV A366V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 308144 chr4 110880541 110880541 G C EGF Nonsynonymous SNV L338F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.279 308145 chr4 118006109 118006109 T A rs745569929 TRAM1L1 Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.616 308146 chr20 45875153 45875153 T G rs151045820 ZMYND8 Nonsynonymous SNV Q556P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 308147 chr20 47258783 47258783 T C rs142540700 PREX1 Nonsynonymous SNV N1233S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.699 308148 chr3 126916196 126916196 G A rs377536253 C3orf56 Nonsynonymous SNV G223D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.704 308149 chr14 58471882 58471882 T C rs769947221 ARMH4 Nonsynonymous SNV M714V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 308150 chr4 138442835 138442835 G A rs139751813 PCDH18 Nonsynonymous SNV T918M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 308151 chr4 144617277 144617277 C T rs752931215 FREM3 Nonsynonymous SNV E1518K 0 0 0.003 0 0 0 0 1 0 0 0 0 21 308152 chr14 64557734 64557734 A G rs10137972 SYNE2 Nonsynonymous SNV N3982D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.7 308153 chr4 151773363 151773363 T C rs146297781 LRBA Nonsynonymous SNV T1167A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.014 308154 chr4 154624520 154624520 T C TLR2 Nonsynonymous SNV L154P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 308155 chr14 69584987 69584987 G A DCAF5 Nonsynonymous SNV T134I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 308156 chr14 70252813 70252813 C - SLC10A1 0.001 0 0 0 1 0 0 0 0 0 0 0 308157 chr4 15690205 15690205 T C FAM200B Synonymous SNV S535S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.137 308158 chr12 53928410 53928410 G A rs767401896 ATF7, ATF7-NPFF Nonsynonymous SNV P91S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 308159 chr3 138153922 138153922 C T rs368781302 ESYT3 Synonymous SNV R94R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 308160 chr4 169201648 169201648 A C rs143109820 DDX60 Nonsynonymous SNV F606V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 308161 chr14 75558030 75558030 T C rs140661298 NEK9 Synonymous SNV T807T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.606 308162 chr12 57436900 57436900 G A rs145245907 MYO1A Nonsynonymous SNV R352C 0.003 0 0 0 3 0 0 0 0 0 0 0 34 308163 chr4 183696192 183696192 G A rs183374276 TENM3 Synonymous SNV T1730T 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 6.405 308164 chr12 57922079 57922079 G C rs747931343 MBD6 Nonsynonymous SNV R852S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 308165 chr14 81862461 81862461 G C rs770138799 STON2 Synonymous SNV S50S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 308166 chr4 186545346 186545346 A T rs61736043 SORBS2 Nonsynonymous SNV L313I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 308167 chr4 25664213 25664213 A G SLC34A2 Nonsynonymous SNV K31E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 308168 chr22 44011785 44011785 G A rs777616724 EFCAB6 Nonsynonymous SNV A676V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 308169 chr22 43607012 43607012 C T rs138417338 SCUBE1 Nonsynonymous SNV E767K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 308170 chr14 94521487 94521487 G C rs760419383 DDX24 Nonsynonymous SNV T678S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 308171 chr22 44559776 44559776 C T rs146183248 PARVB Synonymous SNV D253D 0.002 0 0 0 2 0 0 0 0 0 0 0 18.05 308172 chr12 95443002 95443002 C T rs142368782 NR2C1 Nonsynonymous SNV D325N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 308173 chr21 46131368 46131368 T C TSPEAR Nonsynonymous SNV Q21R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 308174 chr4 44688651 44688651 G A rs200893426 GUF1 Nonsynonymous SNV V287I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.22 308175 chr4 44693715 44693715 - ATTGATCAAAATAGATATCATA rs773410288 GUF1 Frameshift insertion V186Yfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 308176 chr4 46067496 46067496 T G rs140364079 GABRG1 Nonsynonymous SNV I143L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 308177 chr4 55594186 55594186 A G rs373554876 KIT Nonsynonymous SNV H630R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.4 308178 chr3 112066586 112066586 C G CD200 Nonsynonymous SNV I127M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 308179 chr14 105420915 105420915 A G AHNAK2 Synonymous SNV H191H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 308180 chr15 23891213 23891213 C T MAGEL2 Synonymous SNV P559P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 308181 chr22 24919627 24919627 G A rs62231899 UPB1 Synonymous SNV V319V 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign/Likely benign 8.83 308182 chr15 31233777 31233777 C T MTMR10 Nonsynonymous SNV V744I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 308183 chr22 28193160 28193160 C T rs766570466 MN1 Synonymous SNV P1124P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 308184 chr22 30228268 30228268 G A rs34802688 ASCC2 Nonsynonymous SNV P16L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 308185 chr4 74270072 74270072 C A ALB Nonsynonymous SNV L10I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 308186 chr4 79747275 79747275 A G BMP2K Nonsynonymous SNV D88G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 308187 chr22 37603369 37603369 C T rs767908675 SSTR3 Synonymous SNV P158P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 308188 chr2 26022375 26022375 C T rs750967531 ASXL2 Synonymous SNV L36L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 308189 chr2 26457109 26457109 T A HADHA Synonymous SNV G143G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 308190 chr2 131522116 131522116 G A rs760682073 AMER3 Nonsynonymous SNV G824E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.1 308191 chr15 42293373 42293373 G A rs765947340 PLA2G4E Nonsynonymous SNV R219W 0.001 0 0 0 1 0 0 0 0 0 0 0 22 308192 chr22 40816970 40816970 G C MRTFA Synonymous SNV P254P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.079 308193 chr22 41970824 41970824 C T CSDC2 Synonymous SNV A129A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 308194 chr22 42033754 42033754 G A rs146392748 XRCC6 Synonymous SNV R194R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 308195 chr15 43641229 43641229 A G rs749544069 ADAL Nonsynonymous SNV H253R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.417 308196 chr4 90816361 90816361 A C rs139171187 MMRN1 Nonsynonymous SNV K80T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 308197 chr2 158634702 158634702 C T rs201452185 ACVR1 Nonsynonymous SNV V162M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 23.2 308198 chr12 133201582 133201582 T C rs751217859 POLE 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.5 308199 chr15 49048132 49048132 G C rs74553953 CEP152 Nonsynonymous SNV L1105V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 308200 chr5 10506603 10506603 G A rs146366018 LINC02213 0 0 0.003 0 0 0 0 1 0 0 0 0 7.177 308201 chr15 51510760 51510760 A T rs143562020 CYP19A1 Nonsynonymous SNV Y241N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 308202 chr5 111755370 111755370 G A rs926611737 EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 308203 chr2 54133949 54133949 C T rs200464726 PSME4 Synonymous SNV Q947Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 308204 chr5 134039523 134039523 C A SEC24A Nonsynonymous SNV P781T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 308205 chr3 53766091 53766091 C T CACNA1D Nonsynonymous SNV P819S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 308206 chr15 67073338 67073338 C T rs148705603 SMAD6 Nonsynonymous SNV A319V 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 22.7 308207 chr2 179582781 179582781 C T rs200103997 TTN Nonsynonymous SNV V7074I 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.265 308208 chr15 68120290 68120290 C G SKOR1 Synonymous SNV P708P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 308209 chr2 179597590 179597590 T C rs190636272 TTN Nonsynonymous SNV K4194R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.14 308210 chr3 58508273 58508273 G C rs143228600 ACOX2 Nonsynonymous SNV Q528E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.006 308211 chr3 62177231 62177231 C T PTPRG Synonymous SNV Y374Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 308212 chr2 110372969 110372969 C T rs777564332 SOWAHC Synonymous SNV T301T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.33 308213 chr13 41949621 41949621 C G rs748117461 NAA16 Synonymous SNV A826A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 308214 chr13 42245138 42245138 G A VWA8 Stop gain Q1519X 0.001 0 0 0 1 0 0 0 0 0 0 0 47 308215 chr2 179398979 179398979 C T rs758224214 TTN Synonymous SNV K25056K 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 14.58 308216 chr5 140249991 140249991 T G PCDHA11 Nonsynonymous SNV W435G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 308217 chr5 140530387 140530387 T C PCDHB6 Synonymous SNV N183N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.376 308218 chr13 53000136 53000136 G A rs148016251 VPS36 Synonymous SNV Y226Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.44 308219 chr2 85662902 85662902 C T rs555812856 SH2D6 Synonymous SNV G90G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.66 308220 chr2 85843358 85843358 C T rs779369298 USP39 Nonsynonymous SNV R14C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.7 308221 chr2 86437791 86437791 G C rs746061302 MRPL35 X189Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 308222 chr5 149782704 149782704 C T rs138891989 CD74 Nonsynonymous SNV R266H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 308223 chr5 150948224 150948224 C T rs145029623 FAT2 Nonsynonymous SNV G90D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 308224 chr4 113199131 113199131 G C rs139652915 TIFA Nonsynonymous SNV L148V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 308225 chr2 165544204 165544204 C T rs781089204 SNORA70F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.596 308226 chr2 165578629 165578629 C T rs140199954 COBLL1 Nonsynonymous SNV A318T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 308227 chr15 89864005 89864005 G A POLG Synonymous SNV G991G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 308228 chr13 114535710 114535710 C T rs200207558 GAS6 Nonsynonymous SNV V284M 0.003 0 0 0 3 0 0 0 0 0 0 0 26.3 308229 chr2 169757932 169757932 A G G6PC2 Nonsynonymous SNV N31D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.655 308230 chr2 170677700 170677700 T C rs755660767 METTL5 Nonsynonymous SNV D103G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 308231 chr2 170780444 170780444 A G UBR3 Synonymous SNV A624A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.439 308232 chr15 91474522 91474522 G C HDDC3 Nonsynonymous SNV R175G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 308233 chr2 172935641 172935641 T C rs61996337 METAP1D Nonsynonymous SNV Y65H 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.2 308234 chr3 27387644 27387644 C T NEK10 Nonsynonymous SNV A66T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.2 308235 chr4 154508904 154508904 T C TMEM131L Nonsynonymous SNV L498P 0.003 0 0 0 3 0 0 0 0 0 0 0 28.8 308236 chr5 177577897 177577897 A T rs780696831 NHP2 Nonsynonymous SNV S110T 0 0 0.003 0 0 0 0 1 0 0 0 0 25 308237 chr5 178392338 178392338 C T rs35018630 ZNF454 Synonymous SNV C311C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.024 308238 chr4 159568005 159568005 G A RXFP1 Nonsynonymous SNV G422R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 308239 chr2 179638834 179638834 C T rs75031300 TTN Nonsynonymous SNV R2308H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.2 308240 chr5 35084710 35084710 T A rs746827446 PRLR Nonsynonymous SNV I79L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.061 308241 chr2 1926319 1926319 G A rs754142379 MYT1L Nonsynonymous SNV R408W 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 24.5 308242 chr16 1820678 1820678 T A NME3 Nonsynonymous SNV D161V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 308243 chr2 232458779 232458779 C T rs141442188 TEX44 Nonsynonymous SNV R373C 0.002 0 0 0 2 0 0 0 0 0 0 0 33 308244 chr2 201994744 201994744 C A CFLAR Synonymous SNV V52V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 308245 chr5 55291229 55291229 C T rs551033665 FLJ31104 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 308246 chr2 239006948 239006948 C T rs138917491 SCLY Synonymous SNV V430V 0.002 0 0 0 2 0 0 0 0 0 0 0 13.48 308247 chr4 3494675 3494675 C T rs560882592 DOK7 Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.2 308248 chr5 72348245 72348245 A C rs202229490 FCHO2 Nonsynonymous SNV M329L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.171 308249 chr3 142681423 142681423 G A rs369902311 PAQR9 Synonymous SNV S252S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.298 308250 chr3 52283798 52283798 C T rs142217810 PPM1M Nonsynonymous SNV H238Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.789 308251 chr16 5055940 5055940 C G rs751665236 SEC14L5 Nonsynonymous SNV T443S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 308252 chr3 52388886 52388886 T A rs201354986 DNAH1 Nonsynonymous SNV S1170T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 6.37 308253 chr3 93733793 93733793 T G rs149433236 STX19 Nonsynonymous SNV R107S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.19 308254 chr3 52476279 52476279 G T rs375664658 SEMA3G Nonsynonymous SNV N127K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.5 308255 chr3 52584587 52584587 G A rs144852450 PBRM1 Nonsynonymous SNV P1528S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.6 308256 chr3 154832932 154832932 G A rs745499234 MME Nonsynonymous SNV V116I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.87 308257 chr16 12172748 12172748 T G SNX29 Nonsynonymous SNV S460A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.224 308258 chr5 79733196 79733196 A G ZFYVE16 Nonsynonymous SNV K231R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 308259 chr5 79950724 79950724 - CCGCAGCGCCCGCAGCGCCCCCAGCGCCCCCAGCTCCCGCAGCGC MSH3 P63_P64insAAPPAPPAPAAPAAP 0 0 0.003 0 0 0 0 1 0 0 0 0 308260 chr3 178748672 178748672 G A rs372935625 ZMAT3 Nonsynonymous SNV P129L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.514 308261 chr5 90674511 90674511 G A rs779678796 ARRDC3 Nonsynonymous SNV T121I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 308262 chr5 95234219 95234219 T C rs753355776 ELL2 Nonsynonymous SNV Q417R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.977 308263 chr3 186370142 186370142 C A rs142401278 FETUB Nonsynonymous SNV P226T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.252 308264 chr4 619814 619814 A C PDE6B Synonymous SNV P133P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 308265 chr6 107008787 107008787 C T rs764916299 CRYBG1 Stop gain R1581X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 308266 chr16 27475755 27475755 C T rs199866134 GTF3C1 Nonsynonymous SNV A1920T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 308267 chr6 109802791 109802791 C A rs766594494 ZBTB24 Nonsynonymous SNV V147L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.62 308268 chr6 109835574 109835574 G A AK9 Nonsynonymous SNV R1378C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 308269 chr6 111824780 111824780 T C rs41289892 TRAF3IP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 308270 chr16 29853335 29853335 - GCGCTCTGCCTGCTGC rs764080003 MVP Frameshift insertion L518Rfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 308271 chr16 30745221 30745221 C T rs202092944 SRCAP Synonymous SNV I2167I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.12 308272 chr16 30998237 30998237 G A rs201349611 HSD3B7 Nonsynonymous SNV R203K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.382 308273 chr6 123102368 123102371 TTGT - rs754850313 FABP7 V127Ffs*88 0 0 0.003 0 0 0 0 1 0 0 0 0 308274 chr2 39536616 39536616 G A MAP4K3 Nonsynonymous SNV P348S 0 0 0 1 0 0 0.003 0 0 0 0 0 26 308275 chr2 241535888 241535888 G A rs368588347 CAPN10 Synonymous SNV A477A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.636 308276 chr6 129835690 129835690 C A rs151049890 LAMA2 Nonsynonymous SNV A3050E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.06 308277 chr2 50724519 50724519 T A NRXN1 Nonsynonymous SNV Y907F 0 0 0 2 0 0 0.005 0 0 0 0 0 9.56 308278 chr16 56703798 56703798 T C rs113557604 MT1H Star tloss M1T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 308279 chr16 56703807 56703807 A G rs112710021 MT1H Nonsynonymous SNV N4S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 308280 chr16 57074593 57074593 A T rs140863064 NLRC5 Nonsynonymous SNV M968L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.095 308281 chr2 69379307 69379307 G A rs766940480 ANTXR1 Nonsynonymous SNV G320S 0.002 0 0 0 2 0 0 0 0 0 0 0 31 308282 chr16 66600814 66600814 T C rs376558643 CMTM1 Nonsynonymous SNV F133S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 308283 chr2 37247849 37247849 C A HEATR5B Synonymous SNV V1328V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 308284 chr6 159197477 159197477 T C rs202093720 EZR Nonsynonymous SNV K253R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 308285 chr16 72821609 72821609 G A rs914626552 ZFHX3 Synonymous SNV G2608G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.642 308286 chr16 72821616 72821618 CCA - rs766266415 ZFHX3 G2613del 0.001 0 0 0 1 0 0 0 0 0 0 0 308287 chr2 44549895 44549895 C A rs757091047 PREPL Synonymous SNV A603A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 308288 chr3 42740553 42740553 C A rs146384822 HHATL Nonsynonymous SNV A87S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 308289 chr3 42956670 42956670 T G rs139841182 ZNF662 Nonsynonymous SNV F395V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 308290 chr16 77228558 77228558 T G rs764782277 MON1B Nonsynonymous SNV C122G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 308291 chr3 43074371 43074371 G C rs115672213 GASK1A Nonsynonymous SNV A206P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.2 308292 chr3 43074804 43074804 G A rs746644564 GASK1A Nonsynonymous SNV R350H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 308293 chr3 43389587 43389587 G T rs760264188 SNRK Synonymous SNV S406S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.176 308294 chr6 166401662 166401662 C T rs200546539 LINC00602 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 308295 chr15 42135973 42135973 G C JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV Q281H 0.002 0 0 0 2 0 0 0 0 0 0 0 21 308296 chr3 44598757 44598757 G T rs35999747 ZKSCAN7 Nonsynonymous SNV S73I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 308297 chr3 44611589 44611589 A G rs35486794 ZKSCAN7 Synonymous SNV E178E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.562 308298 chr3 44685061 44685061 G A rs61747171 ZNF197, ZNF660-ZNF197 Synonymous SNV T600T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.219 308299 chr3 45132872 45132872 C T rs35353149 CDCP1 Nonsynonymous SNV G596S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 308300 chr2 70528908 70528908 T C rs577013790 FAM136A Nonsynonymous SNV Q79R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.822 308301 chr16 82069046 82069046 C T rs778966653 HSD17B2 Nonsynonymous SNV S6L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 308302 chr2 99858912 99858912 G A rs748768765 LYG2 Nonsynonymous SNV A185V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 308303 chr6 17675222 17675222 C T rs777246335 NUP153 Nonsynonymous SNV D256N 0 0 0.003 0 0 0 0 1 0 0 0 0 25 308304 chr15 48766737 48766737 T C rs202192505 FBN1 Nonsynonymous SNV I1359V 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 5.12 308305 chr15 49531537 49531537 C T rs141479055 GALK2 Synonymous SNV L148L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.29 308306 chr15 50215688 50215688 C T rs771488564 ATP8B4 Nonsynonymous SNV R549Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 308307 chr2 74883669 74883669 T G SEMA4F Nonsynonymous SNV S52A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 308308 chr6 24489653 24489653 G A rs145921069 GPLD1 Synonymous SNV H29H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.785 308309 chr3 108183516 108183516 G A MYH15 Nonsynonymous SNV A587V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.65 308310 chr2 86481827 86481827 G A rs766247706 REEP1 Nonsynonymous SNV S71L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 308311 chr15 55632978 55632978 C T rs777281224 PIGB Nonsynonymous SNV R339W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 308312 chr16 88497797 88497797 G A rs568553875 ZNF469 Nonsynonymous SNV G1307S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 308313 chr3 49201420 49201420 A G CCDC71 Synonymous SNV S74S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.13 308314 chr3 111923223 111923223 A - rs761139813 SLC9C1 S624Hfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 308315 chr6 26393052 26393052 A T rs769249239 BTN2A2 Nonsynonymous SNV T267S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 308316 chr6 26393054 26393054 T C rs775440765 BTN2A2 Synonymous SNV T267T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 308317 chr6 26468663 26468663 G A rs760244721 BTN2A1 Synonymous SNV L429L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.923 308318 chr6 26468668 26468668 G C rs776562846 BTN2A1 Nonsynonymous SNV C431S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.783 308319 chr6 26468672 26468672 G T rs764973330 BTN2A1 Nonsynonymous SNV E432D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.548 308320 chr6 26468713 26468713 A G rs149725979 BTN2A1 Nonsynonymous SNV N446S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 308321 chr3 49831352 49831352 G A rs753808280 CDHR4 Nonsynonymous SNV A456V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 308322 chr6 28212901 28212903 GAA - rs557406499 ZKSCAN4 S389del 0 0 0.003 0 0 0 0 1 0 0 0 0 308323 chr3 52012354 52012354 C T ABHD14A, ABHD14A-ACY1 Stop gain Q121X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 308324 chr16 89757913 89757913 G A CDK10 Nonsynonymous SNV V28M 0.001 0 0 0 1 0 0 0 0 0 0 0 29 308325 chr3 111993749 111993749 G A rs28413123 SLC9C1 Nonsynonymous SNV T203I 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 4.071 308326 chr3 124044869 124044869 C T rs564023716 KALRN Nonsynonymous SNV R377C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 308327 chr15 74425357 74425357 C G ISLR2 Nonsynonymous SNV R88G 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 308328 chr3 121097680 121097680 G A rs368965958 STXBP5L Nonsynonymous SNV R765Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 308329 chr6 42585209 42585209 A G UBR2 Synonymous SNV A415A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.32 308330 chr6 43013084 43013084 G C CUL7 Nonsynonymous SNV F1057L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 308331 chr17 4439462 4439462 T G SPNS2 Nonsynonymous SNV I479S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 308332 chr4 128807715 128807715 A G rs779735118 PLK4 Nonsynonymous SNV E365G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 308333 chr3 133673896 133673896 G C SLCO2A1 Nonsynonymous SNV A180G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 308334 chr6 56857309 56857309 G A rs755317583 BEND6 Nonsynonymous SNV R85Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 308335 chr17 7250532 7250532 C T rs759166083 ACAP1 Synonymous SNV T438T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 308336 chr4 110446016 110446016 C T rs202092664 SEC24B Nonsynonymous SNV L816F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 308337 chr4 1205994 1205994 G C rs763015951 CTBP1-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 0.122 308338 chr15 100871190 100871190 T G rs761591792 ADAMTS17 Nonsynonymous SNV S174R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 7.788 308339 chr6 89808359 89808359 T C rs774470607 SRSF12 Nonsynonymous SNV K242E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.77 308340 chr3 155206496 155206496 C T rs770441425 PLCH1 Nonsynonymous SNV R819Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 308341 chr17 11650990 11650990 C T rs774222974 DNAH9 Nonsynonymous SNV R2173W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 308342 chr3 16419577 16419577 G A rs147724904 RFTN1 Synonymous SNV F158F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 308343 chr7 100075304 100075304 C T rs868585166 TSC22D4 Nonsynonymous SNV G120R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 308344 chr3 164777793 164777793 G A rs77546399 SI Nonsynonymous SNV P348L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.9 308345 chr3 168547054 168547054 A G EGFEM1P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.421 308346 chr5 19839047 19839047 A G CDH18 Nonsynonymous SNV C17R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 308347 chr5 33937637 33937637 G - rs754537329 RXFP3 G265Afs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 308348 chr3 181430391 181430391 T G rs141391454 SOX2 Synonymous SNV L81L 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 0.004 308349 chr3 183097162 183097162 G A rs544663358 MCF2L2 Synonymous SNV F66F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.457 308350 chr3 192125893 192125893 C G FGF12 Synonymous SNV L40L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.4 308351 chr3 192517118 192517118 A T rs545666339 MB21D2 Nonsynonymous SNV F178Y 0.002 0 0 0 2 0 0 0 0 0 0 0 6.064 308352 chr3 195298176 195298176 A G rs774870301 APOD Synonymous SNV P102P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.834 308353 chr3 36874872 36874872 C T rs776681695 TRANK1 Nonsynonymous SNV E2024K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 308354 chr3 38802874 38802874 C T rs764095900 SCN10A Nonsynonymous SNV G231D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 308355 chr5 141059571 141059571 G A rs146956360 ARAP3 Synonymous SNV F161F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 308356 chr3 40519484 40519484 T A ZNF619 Nonsynonymous SNV V5E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 308357 chr4 48158704 48158704 C T rs137884397 TEC Nonsynonymous SNV R262H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 308358 chr7 128481020 128481020 A G rs751006360 FLNC Synonymous SNV T603T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.417 308359 chr7 129100173 129100173 T C rs73234771 STRIP2 Nonsynonymous SNV I479T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 308360 chr3 44364669 44364669 C T TOPAZ1 Synonymous SNV S1519S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 308361 chr7 142574925 142574925 G A rs148239732 TRPV6 Nonsynonymous SNV R193C 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 308362 chr7 143175728 143175728 G A rs779872662 TAS2R41 Nonsynonymous SNV A255T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 308363 chr7 143216189 143216189 C T rs141203372 EPHA1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 6.102 308364 chr3 50313982 50313982 G A rs782820786 SEMA3B Nonsynonymous SNV G356S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.74 308365 chr4 6619136 6619136 C T rs200356754 MAN2B2 Nonsynonymous SNV R860C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 308366 chr7 149493511 149493511 G A rs569350279 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 1.226 308367 chr17 44791290 44791290 A T NSF Nonsynonymous SNV I567F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 308368 chr17 45893515 45893515 G A rs368690330 OSBPL7 Synonymous SNV S359S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.259 308369 chr17 45895952 45895952 C G OSBPL7 Nonsynonymous SNV V134L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 308370 chr3 49050417 49050417 T C WDR6 Nonsynonymous SNV Y458H 0.001 0 0 0 1 0 0 0 0 0 0 0 25 308371 chr7 1513873 1513873 C T rs769069843 INTS1 Synonymous SNV P1920P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.56 308372 chr3 65415521 65415521 G A rs755079504 MAGI1 Nonsynonymous SNV A614V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.96 308373 chr7 1579999 1579999 G A rs369242312 MAFK Synonymous SNV S153S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.566 308374 chr7 158695286 158695286 G A WDR60 Nonsynonymous SNV D262N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 308375 chr3 97668716 97668716 C T rs370932023 RIOX2 Synonymous SNV A344A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 308376 chr7 2404120 2404120 C G EIF3B Nonsynonymous SNV F371L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 308377 chr6 13321321 13321321 A C rs543580 TBC1D7, TBC1D7-LOC100130357 Nonsynonymous SNV L40W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 26 308378 chr7 27856058 27856058 C A TAX1BP1 Nonsynonymous SNV Q619K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 308379 chr17 59926609 59926609 C T rs876658860 BRIP1 Nonsynonymous SNV E130K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.65 308380 chr17 62493031 62493033 GAC - rs782120855 POLG2 L18_S19delinsF 0.001 0 0 0 1 0 0 0 0 0 0 0 308381 chr4 13603373 13603373 C G rs139144559 BOD1L1 Nonsynonymous SNV M1717I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.812 308382 chr7 44578566 44578566 G A rs778900013 NPC1L1 Nonsynonymous SNV P477L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 308383 chr17 71747318 71747318 G A rs994959643 LOC100134391 0.001 0 0 0 1 0 0 0 0 0 0 0 3.88 308384 chr7 44806129 44806129 C T ZMIZ2 Nonsynonymous SNV P815L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 308385 chr7 45009399 45009399 C A MYO1G Stop gain E470X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 308386 chr4 141677089 141677089 G T rs779300579 TBC1D9 Synonymous SNV G37G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 308387 chr4 154506707 154506707 C T rs115067608 TMEM131L Nonsynonymous SNV R419C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 308388 chr5 43613143 43613143 G A rs768145659 NNT Synonymous SNV A95A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.08 308389 chr4 120214108 120214109 GA - rs779781588 USP53 E939Mfs*15 0.002 0 0 0 2 0 0 0 0 0 0 0 308390 chr7 5372649 5372649 G A TNRC18 Synonymous SNV S1917S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 308391 chr4 126242578 126242578 G A rs375605783 FAT4 Nonsynonymous SNV R1671H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.7 308392 chr17 77709244 77709244 T C rs782491213 ENPP7 Nonsynonymous SNV F268L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 308393 chr4 126329612 126329612 A T rs769096110 FAT4 Synonymous SNV A1861A 0 0 0 2 0 0 0.005 0 0 0 0 0 2.566 308394 chr4 13600593 13600593 G A BOD1L1 Nonsynonymous SNV S2644F 0 0 0 1 0 0 0.003 0 0 0 0 0 23 308395 chr17 78346513 78346513 T A RNF213 Nonsynonymous SNV S4244T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 308396 chr4 142153701 142153701 C T ZNF330 Nonsynonymous SNV T138I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 308397 chr4 144619535 144619535 G A FREM3 Nonsynonymous SNV T765I 0 0 0 2 0 0 0.005 0 0 0 0 0 14.75 308398 chr4 3117936 3117936 C T rs376129083 HTT Synonymous SNV F338F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 308399 chr7 93108744 93108744 C T rs142718250 CALCR Nonsynonymous SNV V43I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 0.005 308400 chr4 3590766 3590766 T C LINC00955 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 308401 chr17 80543937 80543937 G A rs145992071 FOXK2 Synonymous SNV A479A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 308402 chr4 39218848 39218848 C T WDR19 Synonymous SNV V288V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 308403 chr8 101154011 101154011 C A FBXO43 Nonsynonymous SNV R157S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 308404 chr5 149546558 149546558 C T CDX1 Nonsynonymous SNV P40L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 308405 chr17 6330209 6330209 G C AIPL1 Nonsynonymous SNV Q149E 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 308406 chr4 184615173 184615173 C G TRAPPC11 Nonsynonymous SNV D830E 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 19.2 308407 chr4 185638317 185638317 G T CENPU Synonymous SNV I118I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.737 308408 chr6 42974202 42974213 CCCAGCCGCAGC - PPP2R5D P44_Q47del 0.001 0.003 0 0 1 1 0 0 0 0 0 0 308409 chr5 161128547 161128547 T C rs778218803 GABRA6 Nonsynonymous SNV L377P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 308410 chr4 22389378 22389378 T A rs568318170 ADGRA3 Nonsynonymous SNV S1306C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 308411 chr4 186097094 186097094 C T rs760820247 CFAP97 Nonsynonymous SNV R389Q 0 0 0 2 0 0 0.005 0 0 0 0 0 23.2 308412 chr17 8701827 8701827 C T rs746569118 MFSD6L Synonymous SNV E204E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.774 308413 chr4 2948183 2948183 T C NOP14 Nonsynonymous SNV M531V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 308414 chr5 178413675 178413675 C T rs149564055 GRM6 Nonsynonymous SNV R527Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 308415 chr4 30726113 30726113 T C rs1012879405 PCDH7 Synonymous SNV D1023D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 308416 chr4 3255154 3255154 C T rs777017880 MSANTD1 Nonsynonymous SNV R181C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 308417 chr4 77231102 77231102 A G STBD1 Synonymous SNV L342L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.112 308418 chr18 42529996 42529996 G A rs11082414 SETBP1 Nonsynonymous SNV V231I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 308419 chr17 12655884 12655884 C A MYOCD Nonsynonymous SNV P427T 0.003 0 0 0 3 0 0 0 0 0 0 0 23.3 308420 chr18 50432505 50432527 GCCAACAATCCACTGGCAGAAGA - DCC M168Ifs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 308421 chr6 70980028 70980028 G T rs144009736 COL9A1 Nonsynonymous SNV P153T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.1 308422 chr8 144733470 144733470 A G rs773630710 ZNF623 Synonymous SNV Q476Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.588 308423 chr6 157739835 157739835 C A rs782731205 TMEM242 Nonsynonymous SNV W102C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 308424 chr6 149772317 149772317 G A rs546023898 ZC3H12D Synonymous SNV L362L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.303 308425 chr4 9943581 9943581 C A rs367643471 SLC2A9 Nonsynonymous SNV R257L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 308426 chr18 61233949 61233949 A G rs770534987 SERPINB12 Nonsynonymous SNV Y328C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 308427 chr6 74516649 74516649 A T rs143676607 CD109 Nonsynonymous SNV T938S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.481 308428 chr5 10973708 10973708 G A rs759309910 CTNND2 Nonsynonymous SNV R842C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 308429 chr4 52890141 52890141 G A rs375438506 SGCB Synonymous SNV P313P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.82 308430 chr18 66564488 66564488 G A rs142758749 CCDC102B Synonymous SNV E362E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.08 308431 chr17 26851718 26851718 C T rs138295148 FOXN1 Synonymous SNV A107A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.86 308432 chr5 41005651 41005651 G A rs558497635 MROH2B Synonymous SNV G1282G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 308433 chr18 72251785 72251785 C T rs748932424 CNDP1 Nonsynonymous SNV A504V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 308434 chr4 57397234 57397234 G T rs556464382 THEGL Nonsynonymous SNV R131L 0 0 0 2 0 0 0.005 0 0 0 0 0 12.6 308435 chr5 122923778 122923778 C T rs112303138 CSNK1G3 Synonymous SNV D117D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 308436 chr8 19816859 19816859 C T rs200121996 LPL Synonymous SNV T369T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.36 308437 chr5 127666379 127666379 C T rs866719857 FBN2 Nonsynonymous SNV E1411K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 308438 chr8 22864588 22864588 G A rs144883643 RHOBTB2 Nonsynonymous SNV R284H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 308439 chr17 34853490 34853490 G A ZNHIT3 Synonymous SNV A109A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.048 308440 chr8 23301433 23301433 G A rs147457481 ENTPD4 Synonymous SNV T199T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 308441 chr4 844789 844789 G T GAK Nonsynonymous SNV P1119T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 308442 chr8 37996506 37996506 G A ASH2L Nonsynonymous SNV V475M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 308443 chr6 36686338 36686338 G A rs972882406 RAB44 Synonymous SNV V267V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.793 308444 chr8 65290753 65290753 G A rs768499156 MIR124-2HG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 308445 chr5 101735261 101735261 C T rs200611503 SLCO6A1 Synonymous SNV T351T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.934 308446 chr19 4028593 4028593 G A rs141113403 PIAS4 Nonsynonymous SNV V223I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 27.9 308447 chr5 102522099 102522099 G A rs559400858 PPIP5K2 Nonsynonymous SNV R1025H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 308448 chr5 149585045 149585045 G A rs753059541 SLC6A7 Synonymous SNV K520K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 308449 chr19 4318416 4318416 C T rs376149637 FSD1 Synonymous SNV D291D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 308450 chr7 100686746 100686746 A G rs779189819 MUC17 Nonsynonymous SNV T4017A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 308451 chr8 87641260 87641260 C T rs150650617 CNGB3 Nonsynonymous SNV R456H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 308452 chr5 94245016 94245016 C T MCTP1 Nonsynonymous SNV G264E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 308453 chr5 171881348 171881348 C G SH3PXD2B Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 308454 chr5 112399751 112399751 C A rs151039584 MCC Nonsynonymous SNV G525W 0 0 0 2 0 0 0.005 0 0 0 0 0 33 308455 chr6 43399958 43399958 G T rs146117041 ABCC10 Synonymous SNV P37P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.822 308456 chr5 118513752 118513752 A G rs201157578 DMXL1 Synonymous SNV T2316T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.032 308457 chr5 178410182 178410182 T A rs764767155 GRM6 Nonsynonymous SNV H722L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 308458 chr5 121311049 121311049 G A rs61734325 SRFBP1 Synonymous SNV A55A 0 0 0.007 2 0 0 0.005 2 0 0 0 0 13.84 308459 chr5 179012848 179012848 C T RUFY1 Synonymous SNV N228N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.34 308460 chr6 12162013 12162013 G A HIVEP1 Nonsynonymous SNV A2277T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.5 308461 chr7 137531546 137531546 G T rs142433066 DGKI Synonymous SNV R21R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 308462 chr7 138145395 138145395 G A TRIM24 Synonymous SNV E34E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 308463 chr17 67081218 67081218 C T rs149025377 ABCA6 Nonsynonymous SNV A1379T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 308464 chr9 123928390 123928390 C T rs199993226 CNTRL Stop gain R1311X 0 0 0.003 0 0 0 0 1 0 0 0 0 47 308465 chr5 1414824 1414824 C T rs368954324 SLC6A3 Nonsynonymous SNV G380R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 308466 chr5 52778741 52778741 C T rs910688617 FST Synonymous SNV N39N 0 0 0.007 0 0 0 0 2 0 0 0 0 17.54 308467 chr5 52942072 52942072 A G rs140575484 NDUFS4 Nonsynonymous SNV T63A 0 0 0.007 0 0 0 0 2 0 0 0 0 7.02 308468 chr5 55111225 55111225 G A rs770112379 DDX4 Nonsynonymous SNV V542M 0 0 0.007 0 0 0 0 2 0 0 0 0 7.812 308469 chr9 130630739 130630739 G T AK1 Nonsynonymous SNV T142N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.52 308470 chr9 130925727 130925727 G A rs766042254 C9orf16 Nonsynonymous SNV A29T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 308471 chr7 150105376 150105376 A G LOC728743 0.001 0 0 0 1 0 0 0 0 0 0 0 8.329 308472 chr5 66459582 66459582 C T rs761410811 MAST4 Synonymous SNV D1264D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 308473 chr9 131599180 131599180 C T rs371853430 KYAT1 Nonsynonymous SNV E147K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 308474 chr19 11040309 11040309 G A rs367796118 TIMM29 Synonymous SNV Q238Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.464 308475 chr5 140812776 140812776 T - rs745329085 PCDHGA12 *821del 0 0 0 1 0 0 0.003 0 0 0 0 0 308476 chr17 74077765 74077765 T C rs201270879 ZACN Nonsynonymous SNV L270P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 308477 chr5 72178909 72178909 G A TNPO1 Nonsynonymous SNV E284K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 308478 chr6 158074633 158074633 G A rs767786959 ZDHHC14 Nonsynonymous SNV G348R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 308479 chr19 13318190 13318190 G A rs773412436 CACNA1A Synonymous SNV R2486R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 308480 chr5 77335091 77335091 G A rs146624866 AP3B1 Nonsynonymous SNV T813I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.1 308481 chr6 170858097 170858097 T C rs771379615 PSMB1 Nonsynonymous SNV K73R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 308482 chr5 78181501 78181501 T C rs79970603 ARSB Nonsynonymous SNV I350V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.08 308483 chr9 136330539 136330539 G A rs587678430 CACFD1 Nonsynonymous SNV R97H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 308484 chr5 79030638 79030638 A G rs73773429 CMYA5 Nonsynonymous SNV E2017G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.8 308485 chr5 79031735 79031735 A G rs7721884 CMYA5 Nonsynonymous SNV K2383E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.4 308486 chr5 79032390 79032390 T C rs73773430 CMYA5 Nonsynonymous SNV M2601T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 308487 chr6 24797833 24797833 G A rs768903674 ARMH2 Synonymous SNV S166S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.962 308488 chr5 171765882 171765882 C T rs141103005 SH3PXD2B Nonsynonymous SNV V743M 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.041 308489 chr9 139702058 139702058 C A rs375784439 CCDC183 Stop gain Y507X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 308490 chr9 139748690 139748690 A G rs151266186 MAMDC4 Nonsynonymous SNV H233R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 308491 chr6 25769316 25769316 G A rs767158102 SLC17A4 Synonymous SNV V65V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.025 308492 chr19 17213002 17213002 G A MYO9B Nonsynonymous SNV E159K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 308493 chr6 109322646 109322646 C T rs149726227 SESN1 Nonsynonymous SNV A72T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 308494 chr6 110620319 110620319 T C rs369740579 METTL24 Star tloss M1V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 308495 chr19 17397458 17397458 - GT ANKLE1 Frameshift insertion L591Vfs*19 0.001 0 0 0 1 0 0 0 0 0 0 0 308496 chr9 140901323 140901323 A G rs200273640 CACNA1B Synonymous SNV T693T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.193 308497 chr7 36446159 36446159 C G ANLN Stop gain S286X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 308498 chr19 17994846 17994846 G C rs199838566 SLC5A5 Nonsynonymous SNV R506T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.031 308499 chr9 27055671 27055671 A C rs202158905 IFT74 Nonsynonymous SNV E466D 0 0 0.003 0 0 0 0 1 0 0 0 0 25 308500 chr6 126080735 126080735 A C rs751356539 HEY2 Synonymous SNV A267A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.197 308501 chr7 107599780 107599780 C G rs186548567 LAMB1 Nonsynonymous SNV Q868H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 15.85 308502 chr19 18991150 18991150 C T rs373056917 CERS1 Nonsynonymous SNV G131S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 308503 chr9 34622463 34622463 C T rs12337871 ARID3C Nonsynonymous SNV R310Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 308504 chr9 34635749 34635749 G A rs61739588 SIGMAR1 Synonymous SNV F153F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.99 308505 chr9 34637416 34637416 C T rs12115733 SIGMAR1 Synonymous SNV G51G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.55 308506 chr9 35075969 35075969 G A rs4986939 FANCG Nonsynonymous SNV S378L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19 308507 chr19 30936000 30936000 A G ZNF536 Nonsynonymous SNV K511E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 308508 chr18 30672840 30672840 C T rs62090751 CCDC178 Nonsynonymous SNV R720H 0.002 0 0 0 2 0 0 0 0 0 0 0 18.71 308509 chr19 33444686 33444686 C T rs747568727 CEP89 Nonsynonymous SNV M109I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 308510 chr7 138583784 138583784 T C rs775241970 KIAA1549 Nonsynonymous SNV K1255R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.025 308511 chr6 46605606 46605606 C T CYP39A1 Nonsynonymous SNV D28N 0 0.003 0 0 0 1 0 0 0 0 0 0 19.71 308512 chr6 42993782 42993782 G A rs146780269 RRP36 Nonsynonymous SNV R118Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 308513 chr6 44145063 44145063 T C rs16871612 CAPN11 Nonsynonymous SNV V441A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.355 308514 chr9 88960026 88960026 G A rs78187627 TUT7 Nonsynonymous SNV T288I 0 0 0.007 0 0 0 0 2 0 0 0 0 18.29 308515 chr7 75615085 75615085 G A rs371795413 POR Synonymous SNV T529T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.07 308516 chr9 96581643 96581643 G A rs566669203 MIR4291 0 0 0.003 0 0 0 0 1 0 0 0 0 3.912 308517 chr9 97207290 97207290 T C rs146140126 MFSD14B Synonymous SNV I185I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.535 308518 chr7 141722126 141722126 C T rs781972778 MGAM Stop gain R257X 0.001 0.003 0 0 1 1 0 0 0 0 0 0 41 308519 chr19 38260646 38260646 T G rs780796010 ZNF573 Synonymous SNV T10T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.8 308520 chr6 168366524 168366524 G A rs767776025 AFDN Nonsynonymous SNV E1662K 0 0 0.003 0 0 0 0 1 0 0 0 0 18 308521 chr6 50712884 50712884 A C rs538947072 TFAP2D Synonymous SNV A316A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.97 308522 chr6 170593014 170593014 C T rs374095083 DLL1 Synonymous SNV P451P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.664 308523 chr6 72967967 72967967 A T rs751514883 RIMS1 Synonymous SNV P443P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.095 308524 chr19 39098504 39098504 A G MAP4K1 Nonsynonymous SNV I386T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 308525 chrX 110385348 110385348 G A PAK3 Nonsynonymous SNV R67H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 308526 chr6 76412732 76412732 G C rs778202339 SENP6 Nonsynonymous SNV R880T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.71 308527 chr6 26017850 26017850 T A rs138096874 HIST1H1A Nonsynonymous SNV K37N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.357 308528 chr7 97862948 97862948 G A TECPR1 Nonsynonymous SNV P486L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 308529 chr6 89793534 89793534 T C rs766761318 PNRC1 Synonymous SNV H201H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.044 308530 chrX 140993417 140993417 C T MAGEC1 Nonsynonymous SNV S76F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 308531 chrX 150684073 150684073 G C rs61732407 LOC105377213 0 0 0.01 0 0 0 0 3 0 0 1 0 2.028 308532 chr19 42408229 42408229 C T ARHGEF1 Synonymous SNV L621L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 308533 chr6 90660291 90660291 G T rs759035058 BACH2 Nonsynonymous SNV P512T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 308534 chrX 152722674 152722674 C A HAUS7 Nonsynonymous SNV A133S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.905 308535 chr19 42818779 42818779 G A TMEM145 Synonymous SNV K96K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 308536 chr6 100061914 100061914 A C rs373818597 PRDM13 Nonsynonymous SNV E468A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 308537 chrX 153175784 153175784 G A rs142533512 ARHGAP4 Nonsynonymous SNV P666L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 308538 chr6 34496593 34496593 C T rs769598563 PACSIN1 Nonsynonymous SNV T132M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 308539 chr6 110036336 110036336 T C rs121908287 FIG4 Nonsynonymous SNV I41T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 308540 chr5 82833955 82833955 T C rs181844107 VCAN Synonymous SNV T724T 0 0 0 2 0 0 0.005 0 0 0 0 0 0.312 308541 chr6 37616987 37616987 G A MDGA1 Synonymous SNV P555P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 308542 chr5 93987446 93987446 A G rs767072020 SLF1 Nonsynonymous SNV I260V 0 0 0 2 0 0 0.005 0 0 0 0 0 0.001 308543 chr6 41774686 41774686 G A rs568819746 USP49 Synonymous SNV L12L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.535 308544 chr19 2434966 2434966 G C MIR7108 0.001 0 0 0 1 0 0 0 0 0 0 0 1.797 308545 chr19 2434970 2434970 G C rs759008645 MIR7108 0.001 0 0 0 1 0 0 0 0 0 0 0 0.715 308546 chr19 2434976 2434976 G C rs200161066 MIR7108 0.001 0 0 0 1 0 0 0 0 0 0 0 2.84 308547 chr19 2434980 2434980 A C rs993281010 MIR7108 0.001 0 0 0 1 0 0 0 0 0 0 0 2.675 308548 chr19 2434984 2434984 G C MIR7108 0.001 0 0 0 1 0 0 0 0 0 0 0 0.74 308549 chrX 53461287 53461287 T G rs897323903 HSD17B10 Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.576 308550 chr19 3028766 3028766 C A TLE2 Synonymous SNV S20S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.82 308551 chrX 70471436 70471436 G A rs370697599 ZMYM3 Nonsynonymous SNV A228V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.1 308552 chr19 4179215 4179215 C T SIRT6 Nonsynonymous SNV S16N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.277 308553 chr19 4442244 4442244 T C rs150686707 CHAF1A Synonymous SNV I892I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.642 308554 chr10 101841232 101841232 T C rs61733668 CPN1 Nonsynonymous SNV I51V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 308555 chr6 54735069 54735069 T G rs200423933 FAM83B Nonsynonymous SNV S9A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 308556 chr19 48601510 48601510 C T rs374851590 PLA2G4C Nonsynonymous SNV E162K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 308557 chr6 117846579 117846579 G A rs760306238 DCBLD1 Nonsynonymous SNV M189I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.044 308558 chr6 117846580 117846580 G A rs370148191 DCBLD1 Nonsynonymous SNV V190I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.08 308559 chr6 65300335 65300335 A G rs973479262 EYS Nonsynonymous SNV S1809P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 308560 chr6 151674107 151674107 T C AKAP12 Synonymous SNV S1422S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.878 308561 chr10 105953648 105953648 G A rs747096752 CFAP43 Nonsynonymous SNV S473L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 308562 chr6 152443756 152443756 C T rs2295191 SYNE1 Nonsynonymous SNV G915S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.058 308563 chr6 73821105 73821105 C T rs762253123 KCNQ5 Synonymous SNV N368N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 308564 chr6 74406011 74406011 G A CD109 Nonsynonymous SNV G25R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 308565 chr7 116199267 116199267 G A rs150368249 CAV1 Nonsynonymous SNV V124I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Likely benign 16.13 308566 chr19 50548919 50548919 G A rs766460080 ZNF473 Nonsynonymous SNV E395K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 308567 chr7 100151009 100151009 C G rs768643907 AGFG2 Synonymous SNV T157T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 308568 chr7 100279496 100279496 T A rs753136891 GIGYF1 Nonsynonymous SNV S1016C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 308569 chr6 1612000 1612000 C G rs998203463 FOXC1 Nonsynonymous SNV S440R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.3 308570 chr10 127555603 127555603 G A rs17153678 DHX32 Synonymous SNV Y144Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 308571 chr10 133948655 133948655 G A JAKMIP3 Synonymous SNV R248R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.97 308572 chr10 133981726 133981726 G T rs114837050 JAKMIP3 Synonymous SNV T934T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.675 308573 chr10 134218995 134218995 C G rs757188892 PWWP2B Nonsynonymous SNV P331A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 308574 chr19 55396677 55396677 A C rs61735068 FCAR Nonsynonymous SNV K22T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 308575 chr6 311891 311891 G A rs144879804 DUSP22 Nonsynonymous SNV A23T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.61 308576 chr19 10655500 10655500 A C rs747547210 ATG4D Nonsynonymous SNV S30R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 308577 chr7 100866800 100866800 G A rs762997345 ZNHIT1 Nonsynonymous SNV R79H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 308578 chr19 55593868 55593868 G A rs749529084 EPS8L1 Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 308579 chr19 10893736 10893736 G C DNM2 Synonymous SNV P263P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.46 308580 chr19 10946796 10946796 C T rs759176789 TMED1 Synonymous SNV A24A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 308581 chr7 103180700 103180700 G A rs762032224 RELN Nonsynonymous SNV R2292C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 308582 chr8 3889455 3889455 C T rs377756447 CSMD1 Synonymous SNV S194S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.42 308583 chr8 42036565 42036565 C G rs769212083 PLAT Synonymous SNV S371S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.99 308584 chr6 22570347 22570349 GGC - rs751535761 HDGFL1 A188del 0 0 0 1 0 0 0.003 0 0 0 0 0 308585 chr7 151843693 151843693 T A rs143292008 KMT2C Synonymous SNV I4674I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 308586 chr7 1519251 1519251 G C INTS1 Nonsynonymous SNV Q1382E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.81 308587 chr19 56739648 56739648 T C rs929263466 ZSCAN5A Nonsynonymous SNV K44E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.243 308588 chr19 57037112 57037112 C A ZNF471 Nonsynonymous SNV T485N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.641 308589 chr7 21943841 21943841 C T CDCA7L Nonsynonymous SNV D316N 0 0.003 0 0 0 1 0 0 0 0 0 0 33 308590 chr8 95538488 95538488 G A rs776207879 VIRMA Nonsynonymous SNV P662S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 308591 chr6 46656220 46656220 T C TDRD6 Nonsynonymous SNV F119L 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.8 308592 chr10 55782653 55782653 T C PCDH15 Nonsynonymous SNV E771G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 308593 chr7 142562403 142562403 C G rs8177143 EPHB6 Nonsynonymous SNV P282R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 308594 chr7 2946419 2946419 C T rs146564762 CARD11 Synonymous SNV K1106K 0 0.003 0 0 0 1 0 0 0 0 0 0 9.298 308595 chr7 148989374 148989374 T A LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 308596 chr10 70742539 70742539 C T rs117087416 DDX21 Nonsynonymous SNV R707W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 308597 chr6 43968340 43968340 G A rs767799270 C6orf223, LOC101929705 0 0 0 2 0 0 0.005 0 0 0 0 0 15.61 308598 chr7 44706338 44706338 T A OGDH Nonsynonymous SNV F174Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 308599 chr10 83635725 83635725 C A rs1007468730 NRG3 Nonsynonymous SNV P210H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 308600 chr10 88476287 88476287 G A rs370521488 LDB3 Nonsynonymous SNV G416R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.71 308601 chr9 118949556 118949556 G A rs150638497 PAPPA Nonsynonymous SNV R180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 308602 chr10 89264867 89264867 G A rs143987901 MINPP1 Synonymous SNV E65E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.78 308603 chr7 24705682 24705682 T C MPP6 Nonsynonymous SNV M309T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 308604 chr7 2583466 2583466 C T rs377655983 BRAT1 Synonymous SNV P12P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.79 308605 chr6 89638988 89638988 - A rs775830840 RNGTT 0.001 0 0 0 1 0 0 0 0 0 0 0 308606 chr20 23029906 23029906 C G rs1800577 THBD Nonsynonymous SNV G79A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.02 308607 chr7 39379288 39379290 CAG - rs752833781 POU6F2 Q225del 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 308608 chr20 30433036 30433036 G A rs753112488 FOXS1 Nonsynonymous SNV H104Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 308609 chr20 30525226 30525226 A G TTLL9 Synonymous SNV P246P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.537 308610 chr7 4247853 4247853 A G rs200418130 SDK1 Synonymous SNV S266S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.853 308611 chr7 7413114 7413114 C T COL28A1 Nonsynonymous SNV S808N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 308612 chr20 33581023 33581023 A G rs376113827 MYH7B Nonsynonymous SNV T810A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 308613 chr7 47409064 47409064 G A rs371865709 TNS3 Synonymous SNV S393S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.575 308614 chr19 38795052 38795052 G A C19orf33 Synonymous SNV A20A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.461 308615 chr6 99860560 99860560 T C rs376015395 PNISR Synonymous SNV S48S 0 0 0 2 0 0 0.005 0 0 0 0 0 7.223 308616 chr7 47944015 47944015 C T rs756434620 PKD1L1 Nonsynonymous SNV V631I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 308617 chr20 37356232 37356232 C G SLC32A1 Nonsynonymous SNV D176E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 308618 chr20 37396144 37396144 G A rs200364249 ACTR5 Nonsynonymous SNV V491I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 308619 chr8 29927303 29927303 G A rs762858881 SARAF Synonymous SNV I13I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.89 308620 chr20 43042375 43042375 A G rs193922472 HNF4A Nonsynonymous SNV S143G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.9 308621 chr11 108382688 108382688 C T rs767024124 EXPH5 Synonymous SNV K994K 0 0 0.007 0 0 0 0 2 0 0 0 0 8.537 308622 chr11 108409794 108409794 A T rs145231502 EXPH5 Nonsynonymous SNV S58T 0 0 0.007 0 0 0 0 2 0 0 0 0 7.587 308623 chr7 6549966 6549966 G A GRID2IP Synonymous SNV T573T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 308624 chr19 42462464 42462464 G A rs782056825 RABAC1 Nonsynonymous SNV T114I 0.001 0 0 0 1 0 0 0 0 0 0 0 26 308625 chr9 139333533 139333533 C T rs532376589 INPP5E Synonymous SNV R113R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 308626 chr9 103064553 103064553 G C TEX10 Nonsynonymous SNV L888V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.3 308627 chr20 48523006 48523006 G A rs762691727 SPATA2 Nonsynonymous SNV A238V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 308628 chr11 117100294 117100294 G A rs148605424 PCSK7 Synonymous SNV I89I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 308629 chr19 45728122 45728122 C T rs752640107 EXOC3L2 Nonsynonymous SNV A152T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 308630 chr20 60884836 60884836 G A rs778719671 LAMA5 Synonymous SNV T3628T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 308631 chr7 99158305 99158305 G C rs747034009 ZNF655 Nonsynonymous SNV Q41H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 308632 chr11 120331416 120331416 A G rs199765525 ARHGEF12 Nonsynonymous SNV R836G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 308633 chr19 46509917 46509917 C T rs148543679 CCDC61 Nonsynonymous SNV S111L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 308634 chr19 46519365 46519382 CGTCCCGGGAGCGCTCCG - rs556156591 CCDC61 E303_R308del 0.001 0 0 0 1 0 0 0 0 0 0 0 308635 chr20 61492864 61492864 C T rs145355253 TCFL5 Synonymous SNV E53E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 308636 chr7 120373068 120373068 C T rs753977756 KCND2 Synonymous SNV F409F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.84 308637 chr11 124857873 124857873 - T rs763983988 CCDC15 Frameshift insertion L586Sfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 308638 chr7 127961351 127961351 T C rs775125841 RBM28 Nonsynonymous SNV T370A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.511 308639 chr11 124947425 124947425 G A rs753357171 SLC37A2 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 308640 chr8 133844626 133844626 G A rs199995304 PHF20L1 Nonsynonymous SNV V605I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 308641 chr8 134251205 134251205 G A rs201959970 NDRG1 Synonymous SNV S301S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.36 308642 chr21 33982313 33982313 T C rs755093345 C21orf59-TCP10L, CFAP298 Nonsynonymous SNV M48V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 308643 chr11 17118680 17118680 G C rs778846156 PIK3C2A Nonsynonymous SNV S1037C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 308644 chr9 74329926 74329926 C T CEMIP2 Nonsynonymous SNV G776S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 308645 chr8 143356190 143356190 C A rs767133533 TSNARE1 Synonymous SNV S247S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 308646 chr8 145579291 145579291 G A FBXL6 Nonsynonymous SNV S507F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 308647 chr8 145621860 145621860 G A rs552880585 CPSF1 Nonsynonymous SNV R927C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 308648 chr21 43531782 43531782 T G rs376237302 UMODL1 Nonsynonymous SNV L745W 0.001 0 0 0 1 0 0 0 0 0 0 0 18 308649 chr8 145735381 145735381 T A MFSD3 Nonsynonymous SNV V222E 0 0.003 0 0 0 1 0 0 0 0 0 0 34 308650 chr11 28058144 28058144 C T rs775970379 KIF18A Nonsynonymous SNV M672I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 308651 chr11 3062180 3062180 G A rs200664585 CARS Nonsynonymous SNV T51M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 308652 chr11 33564132 33564132 A G rs757550654 KIAA1549L Synonymous SNV T341T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 308653 chr21 46191379 46191379 G A rs371194777 UBE2G2 Synonymous SNV N67N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.504 308654 chrX 10085581 10085581 C T rs193236056 WWC3 Synonymous SNV G494G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.81 308655 chr21 47581498 47581498 G A rs547788669 SPATC1L Nonsynonymous SNV A119V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 308656 chr11 43465022 43465022 G A rs201185589 TTC17 Nonsynonymous SNV R800Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 308657 chr7 17382665 17382665 T A rs762053323 AHR Nonsynonymous SNV L842M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 308658 chr8 21965168 21965168 T C rs200545434 NUDT18 Synonymous SNV L205L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 308659 chr8 22052407 22052407 G A rs545333729 BMP1 Synonymous SNV A538A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 308660 chr7 2578102 2578102 G A rs199957832 BRAT1 Synonymous SNV T514T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.953 308661 chr11 47354505 47354505 T C MYBPC3 Nonsynonymous SNV E1117G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 308662 chr8 23709878 23709878 G A rs74663949 STC1 Synonymous SNV L46L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.74 308663 chrX 135957300 135957300 A T RBMX Nonsynonymous SNV V162E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 308664 chr8 38677387 38677387 G A rs1056630776 TACC1 Nonsynonymous SNV A14T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.012 308665 chr8 38006196 38006196 C T rs147318238 STAR Synonymous SNV T47T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.17 308666 chr22 24313813 24313813 - GG rs762637240 DDT 0.001 0.003 0 0 1 1 0 0 0 0 0 0 308667 chr22 24313814 24313814 - CC rs751074617 DDT 0.001 0.003 0 0 1 1 0 0 0 0 0 0 308668 chr8 42751343 42751343 C T MIR4469 0 0 0.007 0 0 0 0 2 0 0 0 0 9.746 308669 chr7 47319774 47319774 C T rs149017357 TNS3 Nonsynonymous SNV G1394D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.2 308670 chr8 67925214 67925214 T C PPP1R42 Synonymous SNV P55P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.508 308671 chr22 30857645 30857645 C G rs114917409 SEC14L3 Nonsynonymous SNV V270L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 308672 chr8 67504694 67504694 C T rs751389827 MYBL1 Nonsynonymous SNV R283K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 308673 chr7 4218169 4218169 C T rs139066663 SDK1 Synonymous SNV I170I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 308674 chr22 30980688 30980688 C T rs376323018 PES1 Nonsynonymous SNV D129N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 308675 chr11 5536476 5536476 G C rs145151008 UBQLNL Nonsynonymous SNV A399G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.163 308676 chr8 74941229 74941229 C T rs769036659 LY96 Synonymous SNV S111S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.435 308677 chr8 72755622 72755622 G C MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.535 308678 chrX 66766360 66766368 GGCGGCGGC - AR G471_G473del 0.001 0 0 0 1 0 0 0 0 0 0 0 308679 chr22 40815053 40815053 G A rs752864239 MRTFA Synonymous SNV L463L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.406 308680 chr9 6588411 6588411 G T rs775299911 GLDC Nonsynonymous SNV S566Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 308681 chr9 93636491 93636491 C G rs146732805 SYK Synonymous SNV S284S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 308682 chr9 94495638 94495638 C T rs140179632 ROR2 Nonsynonymous SNV V235M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 308683 chr7 83036428 83036428 G A SEMA3E Synonymous SNV V206V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 308684 chr9 116122952 116122952 A C rs774857753 BSPRY Nonsynonymous SNV K156Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 308685 chr7 64863402 64863402 G A rs377703948 ZNF92 Synonymous SNV V49V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.615 308686 chr22 46658644 46658644 C T rs749869381 PKDREJ Nonsynonymous SNV M192I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 308687 chr22 46795723 46795723 C T rs201891817 CELSR1 Nonsynonymous SNV R1768Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 308688 chr10 11362820 11362820 C T CELF2 Nonsynonymous SNV T363I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.411 308689 chr20 32251667 32251667 G A rs781014497 C20orf144 Synonymous SNV Q152Q 0.003 0 0 0 3 0 0 0 0 0 0 0 3.186 308690 chr10 120816303 120816303 C T rs745308028 EIF3A Synonymous SNV E715E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 308691 chr8 110283331 110283331 G C rs762789253 NUDCD1 Nonsynonymous SNV P372R 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 308692 chrX 6995394 6995394 C T rs368424937 PUDP Nonsynonymous SNV R126H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.151 308693 chrX 11682622 11682622 C T rs142502410 ARHGAP6 Synonymous SNV P109P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 308694 chr8 124392872 124392872 C T rs148295369 ATAD2 Nonsynonymous SNV A73T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 308695 chr9 132636941 132636941 G T USP20 Synonymous SNV G609G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 308696 chrX 22291717 22291717 G A CBLL2 Synonymous SNV Q203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.147 308697 chr9 134077049 134077049 A T NUP214 Nonsynonymous SNV N672I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 308698 chr11 64138941 64138941 C T rs776650038 RPS6KA4 Nonsynonymous SNV P764S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.977 308699 chr11 64522782 64522782 G A rs768576604 PYGM Nonsynonymous SNV A185V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 308700 chr8 12878943 12878943 T C rs200162214 TRMT9B Nonsynonymous SNV F126S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 308701 chr20 45130433 45130433 A C ZNF334 Nonsynonymous SNV N477K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 308702 chr11 64809160 64809160 G T rs533451579 SAC3D1 Synonymous SNV T132T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.33 308703 chr11 65004342 65004342 C T rs775269217 SLC22A20P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.431 308704 chrX 37535055 37535055 G A rs369158350 LANCL3 Nonsynonymous SNV V418I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 308705 chr9 136550407 136550407 G A rs758427155 SARDH Stop gain R691X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 308706 chrX 46332210 46332210 A - KRBOX4 I93Mfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 308707 chr8 141567314 141567314 G A AGO2 Synonymous SNV S300S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.23 308708 chr9 139351959 139351959 G A rs754274293 SEC16A Synonymous SNV I1829I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 308709 chr9 139641414 139641414 C G rs138511229 MIR6722 0 0 0.007 0 0 0 0 2 0 0 0 0 5.895 308710 chrX 70888730 70888730 G A rs981325197 LOC101059915 Synonymous SNV P359P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.699 308711 chr8 144671639 144671639 C T EEF1D Nonsynonymous SNV V205I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.019 308712 chr9 140137606 140137606 G T TUBB4B Synonymous SNV T312T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 308713 chr9 18574202 18574202 G T ADAMTSL1 Nonsynonymous SNV V138F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 308714 chrX 107979140 107979140 C T rs754637294 IRS4 Synonymous SNV R145R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 308715 chr11 72425211 72425211 A G ARAP1 Nonsynonymous SNV L222P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.776 308716 chrX 118220582 118220582 G A rs773445783 KIAA1210 Synonymous SNV Y1537Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.765 308717 chr9 33989062 33989064 TTT - UBAP2 K79del 0 0 0.003 0 0 0 0 1 0 0 0 0 308718 chr10 103344399 103344399 T C rs745910994 POLL Nonsynonymous SNV N284S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 308719 chr8 144942403 144942403 G C EPPK1 Synonymous SNV V1673V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.011 308720 chr8 17611400 17611400 G A rs749845435 MTUS1 Synonymous SNV G639G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 308721 chr11 7674297 7674297 A G rs756049179 PPFIBP2 Nonsynonymous SNV K684E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 308722 chr8 144998170 144998170 G A rs781911978 PLEC Nonsynonymous SNV A1962V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.88 308723 chr10 105363243 105363243 C A SH3PXD2A Nonsynonymous SNV D459Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 308724 chr9 4118714 4118714 G C rs777945478 GLIS3 Nonsynonymous SNV P100R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 308725 chr11 799942 799942 C A PIDD1 Stop gain E783X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 308726 chr8 145223222 145223222 C T rs375965644 MROH1 Nonsynonymous SNV A16V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 308727 chrX 152770110 152770110 C A BGN Synonymous SNV L7L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.59 308728 chrX 153171216 153171216 C T AVPR2 Synonymous SNV L86L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.285 308729 chr8 145722650 145722650 C T PPP1R16A Nonsynonymous SNV H25Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 308730 chr21 39755468 39755468 G A rs200995073 ERG Nonsynonymous SNV P341S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 308731 chr1 915064 915064 A G rs774230105 PERM1 Nonsynonymous SNV V449A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 308732 chr1 1168426 1168426 G A rs779285702 B3GALT6 Synonymous SNV R256R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.579 308733 chr1 1230851 1230851 C T rs774062574 ACAP3 Nonsynonymous SNV G597R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 308734 chr11 93911563 93911563 C T rs184999372 PANX1 Nonsynonymous SNV A117V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 308735 chr1 1601537 1601537 G A rs373497506 SLC35E2B Nonsynonymous SNV S254L 0.001 0 0 0 1 0 0 0 0 0 0 0 27 308736 chr8 27528628 27528628 C T rs777125971 SCARA3 Synonymous SNV S527S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 308737 chr9 95610535 95610535 A G rs74370043 ZNF484 Synonymous SNV C142C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.314 308738 chr9 95618101 95618101 C G rs116044362 ZNF484 Nonsynonymous SNV S40T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.513 308739 chr9 96291904 96291904 G T rs749730597 FAM120A Nonsynonymous SNV M592I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.798 308740 chr9 990083 990083 A G DMRT3 Nonsynonymous SNV N166S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 308741 chr8 30703455 30703455 C G rs767082071 TEX15 Nonsynonymous SNV G1410R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 308742 chr12 104014305 104014305 G A STAB2 Nonsynonymous SNV E131K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.52 308743 chr1 6111610 6111610 C T rs147130504 KCNAB2 Nonsynonymous SNV T5M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 308744 chr8 38034509 38034509 C T rs555873998 BAG4 Nonsynonymous SNV P41L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 308745 chrX 108926614 108926614 G A ACSL4 Synonymous SNV T34T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.34 308746 chr12 106641349 106641363 GCGGCGGCGGCGGCA - CKAP4 A90_A94del 0 0 0.003 0 0 0 0 1 0 0 0 0 308747 chr12 107144505 107144505 C T rs773372023 RFX4 Synonymous SNV A529A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.65 308748 chr1 7724394 7724394 C T rs200089323 CAMTA1 Nonsynonymous SNV T566M 0.002 0 0 1 2 0 0.003 0 0 0 0 0 25.4 308749 chr1 7805969 7805969 G A rs367594577 CAMTA1 Nonsynonymous SNV V522I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 16.8 308750 chr8 54764516 54764516 G A rs201019375 RGS20 Synonymous SNV P19P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.901 308751 chr1 8926584 8926584 C T MIR6728 0.002 0 0 1 2 0 0.003 0 0 0 0 0 8.953 308752 chr21 47773909 47773909 G T PCNT Nonsynonymous SNV C445F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.497 308753 chr10 12940472 12940472 C T rs772617089 CCDC3 Nonsynonymous SNV A253T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 308754 chr8 6669735 6669735 G A rs749391663 XKR5 Nonsynonymous SNV R349W 0.001 0 0 0 1 0 0 0 0 0 0 0 5.259 308755 chrX 140993834 140993834 A G MAGEC1 Nonsynonymous SNV Q215R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.711 308756 chr9 95772520 95772520 C T rs762280368 LOC101927954 0.001 0 0 0 1 0 0 0 0 0 0 0 8.482 308757 chrX 150348395 150348395 G A rs772438504 GPR50 Nonsynonymous SNV G114S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 308758 chr12 114804109 114804109 G C TBX5 Synonymous SNV L231L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.419 308759 chrX 154743874 154743874 G C TMLHE Nonsynonymous SNV S137R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 308760 chr1 13839706 13839706 C T rs780588099 LRRC38 Nonsynonymous SNV G128E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.152 308761 chrX 19390900 19390900 C T rs150181853 MAP3K15 Synonymous SNV S993S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 308762 chrX 21674529 21674529 G A rs775456814 KLHL34 Nonsynonymous SNV P460S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 308763 chrX 24228419 24228419 C G rs770464534 ZFX Synonymous SNV P219P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.295 308764 chr9 100132934 100132934 C A rs1006051196 CCDC180 Synonymous SNV A1498A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.96 308765 chr12 123351834 123351834 C T rs948974971 VPS37B Synonymous SNV S229S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 308766 chr9 100364865 100364865 G A rs117628421 TSTD2 Synonymous SNV C479C 0.002 0 0 0 2 0 0 0 0 0 0 0 4.458 308767 chr12 125834712 125834712 G A rs377588294 TMEM132B Nonsynonymous SNV R261Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 308768 chrX 54987322 54987322 C T rs147013214 PFKFB1 Synonymous SNV E19E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 308769 chr12 130926868 130926871 CCAT - RIMBP2 W326Efs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 308770 chr12 130926877 130926881 TGGCA - RIMBP2 V322Afs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 308771 chr9 114178566 114178566 C T ECPAS Nonsynonymous SNV A584T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 308772 chr10 101567239 101567239 G A rs752352920 ABCC2 Synonymous SNV Q543Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.166 308773 chr10 101590486 101590486 G A rs41318029 ABCC2 Nonsynonymous SNV G921S 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 0.809 308774 chr10 101978881 101978881 C T CHUK Synonymous SNV E191E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 308775 chr9 117051548 117051548 G A rs200384289 COL27A1 Synonymous SNV P1393P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.71 308776 chr12 26276013 26276013 G A rs200886903 BHLHE41 Synonymous SNV Y145Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.993 308777 chr12 28637059 28637059 A G rs139563579 CCDC91 Synonymous SNV T230T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.915 308778 chr12 29446398 29446398 G A rs759108670 FAR2 Nonsynonymous SNV D22N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 308779 chr10 50901934 50901934 A C rs151088739 C10orf53 Nonsynonymous SNV E71A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 308780 chr12 3147159 3147159 A T rs779726504 TEAD4 Nonsynonymous SNV D179V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 308781 chr10 5948043 5948043 C A rs61757391 FBH1 Synonymous SNV G67G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.08 308782 chr1 32542773 32542773 G A rs139522223 TMEM39B Synonymous SNV Q21Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.522 308783 chr1 33059028 33059028 C A ZBTB8A Nonsynonymous SNV L166I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.475 308784 chr12 45444413 45444413 C T DBX2 Nonsynonymous SNV G100R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 15.85 308785 chr1 36039878 36039878 T A TFAP2E Synonymous SNV L126L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 308786 chr10 70661146 70661146 T G rs565593277 DDX50 Synonymous SNV P2P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 308787 chr10 124593429 124593429 C T rs775517916 CUZD1 Synonymous SNV V470V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 308788 chr10 126136647 126136647 G A rs577468619 NKX1-2 Nonsynonymous SNV A95V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 308789 chr11 116718292 116718292 G T rs1016240093 SIK3 Synonymous SNV L1176L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 308790 chr1 41949783 41949783 G A EDN2 Synonymous SNV S52S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 308791 chr10 134621988 134621988 C T rs376118577 CFAP46 Synonymous SNV A2695A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 308792 chr10 134664793 134664793 G A rs146978333 CFAP46 Nonsynonymous SNV T1864M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 308793 chr1 1565828 1565828 C T MIB2 Nonsynonymous SNV A979V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 308794 chr1 2426928 2426928 A G PLCH2 Nonsynonymous SNV K558R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 308795 chr1 3548839 3548839 G A rs775408202 WRAP73 Nonsynonymous SNV P329L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 308796 chr10 18266960 18266960 C T rs775807477 SLC39A12 Nonsynonymous SNV S160F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.543 308797 chr1 6132818 6132818 C A KCNAB2 Nonsynonymous SNV N74K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 308798 chr1 47691505 47691505 C G TAL1 Nonsynonymous SNV R19P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 308799 chr1 6206849 6206849 G A rs759808786 CHD5 Nonsynonymous SNV P489L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 308800 chr10 23303045 23303045 A G rs995525479 ARMC3 Nonsynonymous SNV R688G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.496 308801 chr12 55250559 55250559 C T rs757249683 MUCL1 Nonsynonymous SNV P36S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 308802 chr12 55250560 55250560 C T rs745427604 MUCL1 Nonsynonymous SNV P36L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.192 308803 chr12 56574827 56574827 G C rs143026086 SMARCC2 Nonsynonymous SNV L339V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 308804 chr1 60301017 60301017 A G rs772430266 HOOK1 Nonsynonymous SNV E136G 0.002 0 0 0 2 0 0 0 0 0 0 0 28.5 308805 chr1 16456035 16456035 G A rs753191229 EPHA2 Nonsynonymous SNV R853C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 308806 chrX 106201571 106201571 C T rs150243133 MORC4 Synonymous SNV K460K 0.002 0 0 0 2 0 0 0 0 0 0 0 15.99 308807 chr10 50029126 50029126 C G WDFY4 Nonsynonymous SNV T1910S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 308808 chr1 67450264 67450264 C T MIER1 Nonsynonymous SNV S407F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 308809 chrX 108718910 108718910 C G rs199503618 GUCY2F Nonsynonymous SNV D86H 0.002 0 0 0 2 0 0 0 0 0 0 0 25 308810 chr9 18777439 18777439 T C ADAMTSL1 Nonsynonymous SNV M1071T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.94 308811 chr12 70189104 70189104 A G rs966036520 RAB3IP Nonsynonymous SNV I84V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 308812 chrX 119004752 119004752 G A RNF113A Synonymous SNV T275T 0.003 0 0 0 3 0 0 0 1 0 0 0 8.294 308813 chrX 125299490 125299490 C T rs767789728 DCAF12L2 Nonsynonymous SNV E140K 0.002 0 0 0 2 0 0 0 0 0 0 0 0.405 308814 chr10 5558362 5558362 G A CALML3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.079 308815 chr10 5790663 5790663 C G rs201339737 TASOR2 Nonsynonymous SNV T1679R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.036 308816 chrX 134690113 134690113 A G rs782409922 INTS6L Synonymous SNV G360G 0.003 0 0 0 3 0 0 0 1 0 0 0 4.986 308817 chr12 80605732 80605732 C T rs182902509 OTOGL Synonymous SNV N32N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 308818 chr9 35751981 35751981 G A rs539391165 RGP1 Nonsynonymous SNV R264H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.2 308819 chr1 23279684 23279684 G C rs952551397 LACTBL1 Nonsynonymous SNV A531G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 308820 chr10 71129293 71129293 C T HK1 Nonsynonymous SNV A231V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 308821 chr12 94975501 94975501 T G TMCC3 Nonsynonymous SNV K267Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 308822 chr9 6254551 6254551 G A rs995072519 IL33 Nonsynonymous SNV E78K 0.002 0 0 0 2 0 0 0 0 0 0 0 19 308823 chr11 1092213 1092213 C T rs374641158 MUC2 Synonymous SNV P1344P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.071 308824 chr9 71840265 71840265 C T TJP2 Nonsynonymous SNV T337I 0.002 0 0 0 2 0 0 0 0 0 0 0 32 308825 chr13 101184598 101184598 C A rs761731875 GGACT Nonsynonymous SNV S83I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 308826 chr13 101287114 101287114 C T rs758082044 TMTC4 Nonsynonymous SNV R354Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 308827 chr11 116691766 116691766 C A rs5109 APOA4 Synonymous SNV V336V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 13.3 308828 chr11 116691928 116691928 G A rs5106 APOA4 Synonymous SNV T282T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 6.817 308829 chr11 116691994 116691994 G A rs5105 APOA4 Synonymous SNV A260A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.207 308830 chr11 116728999 116729007 TGCTGTTGC - rs536178660 SIK3 Q951_Q953del 0.002 0 0 0 2 0 0 0 0 0 0 0 308831 chr1 110301203 110301203 G A rs202083454 EPS8L3 Nonsynonymous SNV R149C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.89 308832 chr11 117278695 117278695 C T rs138861857 CEP164 Synonymous SNV L1189L 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.455 308833 chr10 106039203 106039203 C T rs772656686 GSTO2 Nonsynonymous SNV R120C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 308834 chr1 110906445 110906445 A G SLC16A4 Nonsynonymous SNV L366P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 308835 chr9 97369105 97369105 A T rs2297085 FBP1 Nonsynonymous SNV F233I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 23.5 308836 chr1 113063014 113063014 C G rs141296639 WNT2B Synonymous SNV T261T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 308837 chr9 98678023 98678023 A G rs370912243 ERCC6L2 Nonsynonymous SNV M288V 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 308838 chr1 114524163 114524163 C G rs781449650 OLFML3 Synonymous SNV L270L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.406 308839 chr1 115829232 115829232 C T rs369266810 NGF Nonsynonymous SNV R62H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.1 308840 chr1 118550780 118550780 G A rs764123516 SPAG17 Nonsynonymous SNV R1492W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 308841 chr10 11908595 11908595 G A rs200497170 PROSER2 Synonymous SNV T68T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.323 308842 chr10 123734629 123734629 C T rs767795839 NSMCE4A Nonsynonymous SNV D18N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.58 308843 chr13 36050264 36050264 G T rs189182200 MAB21L1 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.281 308844 chrX 14932651 14932651 G A rs41297321 MOSPD2 Nonsynonymous SNV S277N 0.003 0 0 0 3 0 0 0 1 0 0 0 7.746 308845 chr13 39261570 39261570 T G rs771997262 FREM2 Nonsynonymous SNV L30R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 308846 chr13 42874064 42874064 A G rs776921229 AKAP11 Synonymous SNV S394S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.367 308847 chr11 102477336 102477336 G C rs146876571 MMP20 Nonsynonymous SNV L295V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.06 308848 chr1 152082311 152082311 G A TCHH Nonsynonymous SNV R1128W 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 308849 chr1 53558357 53558357 C G rs2279275 SLC1A7 Synonymous SNV V228V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.842 308850 chr1 153749174 153749174 G C SLC27A3 Nonsynonymous SNV C283S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.77 308851 chr1 55246968 55246968 C T TTC22 Nonsynonymous SNV R553H 0 0 0 1 0 0 0.003 0 0 0 0 0 17.82 308852 chr13 99500879 99500879 T C rs147025665 DOCK9 Nonsynonymous SNV Q1355R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 308853 chr1 155887436 155887436 C T rs540646386 KHDC4 Nonsynonymous SNV A432T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 308854 chrX 153633776 153633776 C T rs781926646 DNASE1L1 Nonsynonymous SNV R45Q 0 0 0 3 0 0 0.008 0 0 0 0 1 14.21 308855 chr1 156255711 156255711 A G rs777278993 TMEM79 Nonsynonymous SNV M232V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.395 308856 chr10 18961592 18961592 A G ARL5B Synonymous SNV L99L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.13 308857 chr1 67147783 67147783 C T SGIP1 Nonsynonymous SNV P353L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.327 308858 chr10 25241489 25241489 C T rs149187045 PRTFDC1 Nonsynonymous SNV E6K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.54 308859 chr14 105939661 105939661 G A CRIP2 Nonsynonymous SNV R26Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.809 308860 chr1 158736388 158736388 G A rs144309988 OR6N1 Nonsynonymous SNV L29F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 308861 chr10 30630516 30630516 G A MTPAP Stop gain R71X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 308862 chr1 159922104 159922104 G A rs369579262 SLAMF9 Synonymous SNV N204N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.903 308863 chr14 21490003 21490003 A G rs149741442 NDRG2 Nonsynonymous SNV M123T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 308864 chr11 26692773 26692773 C T rs151303131 SLC5A12 Nonsynonymous SNV R578Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 308865 chr1 161696731 161696731 C T rs374086173 FCRLB Nonsynonymous SNV P216L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 308866 chr14 23354070 23354070 G A rs376974217 REM2 Synonymous SNV S97S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 308867 chr1 94512550 94512550 C T rs148545207 ABCA4 Nonsynonymous SNV R948H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.3 308868 chr11 33083158 33083158 G C rs574915390 TCP11L1 Synonymous SNV V286V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 308869 chr11 128842656 128842656 G A rs752452811 ARHGAP32 Nonsynonymous SNV P886S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.635 308870 chr1 170955739 170955739 A G MROH9 Nonsynonymous SNV D256G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 308871 chr14 24659815 24659815 C T rs774662502 TM9SF1 Nonsynonymous SNV A400T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 308872 chr10 50955251 50955251 A T OGDHL Nonsynonymous SNV S122T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 308873 chr11 46727095 46727095 C T rs150098224 ZNF408 Synonymous SNV G607G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 308874 chr10 5945108 5945108 C A FBH1 Nonsynonymous SNV P43T 0 0.003 0 0 0 1 0 0 0 0 0 0 28 308875 chr10 114045902 114045902 C T rs376277764 TECTB Nonsynonymous SNV P114L 0 0 0 1 0 0 0.003 0 0 0 0 0 33 308876 chr14 37135785 37135785 G T rs200344655 PAX9 Nonsynonymous SNV E250D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 308877 chr10 115374685 115374685 C T rs199673219 NRAP Stop gain W997X 0 0 0 1 0 0 0.003 0 0 0 0 0 45 308878 chr14 44973811 44973811 G A FSCB Nonsynonymous SNV L794F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 308879 chr10 70231568 70231568 C T rs370179897 DNA2 Synonymous SNV E18E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 308880 chr10 70332565 70332565 C T rs185830524 TET1 Nonsynonymous SNV S157L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.633 308881 chr14 50760888 50760888 G A rs776346832 L2HGDH Nonsynonymous SNV P162L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 308882 chr14 60591198 60591198 A G rs754417324 PCNX4 Nonsynonymous SNV Q536R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.287 308883 chr1 198685960 198685960 A G rs61749266 PTPRC Nonsynonymous SNV K320E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.002 308884 chr1 152006266 152006266 G A rs116828313 S100A11 Nonsynonymous SNV S5F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.34 308885 chr14 68331763 68331763 T C rs142567687 RAD51B Star tloss M120T 0 0 0.007 0 0 0 0 2 0 0 0 0 12.4 308886 chr14 70039311 70039311 C A CCDC177 Synonymous SNV A343A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 308887 chr10 90045144 90045144 T C rs763903879 RNLS Synonymous SNV L332L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.026 308888 chr11 45949885 45949885 T G LARGE2 Nonsynonymous SNV W638G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 308889 chr1 152328348 152328348 C T rs750092570 FLG2 Synonymous SNV Q638Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.513 308890 chr10 91177960 91177960 C G IFIT5 Nonsynonymous SNV S335C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 308891 chr14 73980830 73980830 A G rs775190504 HEATR4 Nonsynonymous SNV L440S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 308892 chr1 204120953 204120953 G T rs772697570 ETNK2 Nonsynonymous SNV P10T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 308893 chr10 96114795 96114795 T C rs752105648 NOC3L Synonymous SNV R207R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.493 308894 chr1 207196125 207196125 A T C1orf116 Synonymous SNV A82A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 308895 chr1 212273971 212273971 T C DTL Nonsynonymous SNV S276P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 308896 chr14 94956022 94956022 T C rs758960537 SERPINA12 Nonsynonymous SNV K330E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.383 308897 chr1 214814276 214814276 A C rs142993088 CENPF Nonsynonymous SNV E865D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.21 308898 chr1 214818775 214818775 A G rs150348132 CENPF Synonymous SNV S1954S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.571 308899 chr14 96000051 96000051 G A rs138634126 SNHG10 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 308900 chr1 220151950 220151950 C T rs758814740 EPRS1 Nonsynonymous SNV V1341I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 308901 chr15 23006284 23006284 A C NIPA2 Nonsynonymous SNV C321W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 308902 chr11 5537520 5537520 G A rs117149898 UBQLNL Nonsynonymous SNV S51L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 308903 chr11 6703355 6703355 C T MRPL17 Synonymous SNV G174G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 308904 chr11 5565905 5565905 C T OR52H1 Nonsynonymous SNV M283I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 308905 chr11 1029556 1029557 AG - rs749851398 MUC6 V360Afs*49 0 0.003 0 0 0 1 0 0 0 0 0 0 308906 chr11 56043790 56043790 G T rs202156360 OR5T1 Nonsynonymous SNV V226F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 308907 chr15 40565148 40565148 C A rs761050162 BUB1B-PAK6, PAK6 Nonsynonymous SNV L480I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 308908 chr1 228495016 228495016 A G rs376068102 OBSCN Nonsynonymous SNV I4084V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 308909 chr1 228505725 228505725 A C rs200399314 OBSCN Nonsynonymous SNV E4661A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 308910 chr15 42491812 42491812 G A rs766871342 MIR627 0 0 0.003 0 0 0 0 1 0 0 0 0 1.403 308911 chr1 186114613 186114613 G A rs758569536 HMCN1 Nonsynonymous SNV R4782H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 308912 chr11 59516701 59516701 G A OR10V2P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.938 308913 chr11 60617703 60617703 C T rs141710276 CCDC86 Nonsynonymous SNV R330W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 308914 chr1 200818077 200818077 G C rs778784620 CAMSAP2 Nonsynonymous SNV W711S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 308915 chr15 65347507 65347507 G A rs374440766 RASL12 Synonymous SNV H158H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.555 308916 chr11 123865238 123865238 C T rs756373697 OR10G6 Nonsynonymous SNV A211T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.13 308917 chr10 7679379 7679379 A G ITIH5 Nonsynonymous SNV F155S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 308918 chr15 65916551 65916551 C T rs759654338 SLC24A1 Nonsynonymous SNV R45W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 308919 chr2 669801 669801 T C rs77005891 TMEM18 Nonsynonymous SNV I98V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.001 308920 chr1 203054727 203054727 G C MYOG Nonsynonymous SNV I121M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 308921 chr1 203154380 203154380 G A rs774942775 CHI3L1 Synonymous SNV N63N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.1 308922 chr1 203452929 203452929 G A rs41304277 PRELP Nonsynonymous SNV R206K 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.007 308923 chr2 9525409 9525409 C T rs370634728 ASAP2 Synonymous SNV H684H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 308924 chr15 73617693 73617693 G T rs62641690 HCN4 Synonymous SNV G561G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.245 308925 chr11 64604406 64604406 T C rs747306125 CDC42BPG Nonsynonymous SNV R431G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.226 308926 chr15 74180002 74180002 G A rs144648348 TBC1D21 Synonymous SNV L237L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 308927 chr15 74564054 74564054 G A rs77562762 CCDC33 Nonsynonymous SNV R186Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 308928 chr15 75115993 75115993 C G rs140326228 LMAN1L Synonymous SNV G431G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 308929 chr15 75144477 75144477 C T rs117542927 SCAMP2 Synonymous SNV L92L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 308930 chr15 75146945 75146945 C T rs746562720 SCAMP2 Nonsynonymous SNV A35T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 308931 chr11 65144136 65144136 C T rs370780233 SLC25A45 Synonymous SNV T179T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.683 308932 chr11 65268315 65268317 GGG - rs772360578 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 308933 chr1 214830463 214830463 G A rs757357328 CENPF Synonymous SNV Q2891Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.181 308934 chr11 62373422 62373422 T C rs201324536 EML3 Nonsynonymous SNV I564V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.713 308935 chr15 75761170 75761170 G A rs137863856 PTPN9 Synonymous SNV F574F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 308936 chr15 76426621 76426621 C G rs114291110 TMEM266 Nonsynonymous SNV S6C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 308937 chr15 76496427 76496427 A G rs145161130 TMEM266 Nonsynonymous SNV K456R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.315 308938 chr11 62381932 62381932 G A rs200272942 ROM1 Nonsynonymous SNV A265T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 308939 chr1 220153487 220153487 T C rs750375315 EPRS1 Synonymous SNV A1217A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.26 308940 chr15 77134244 77134244 G A rs75375920 SCAPER Nonsynonymous SNV S75L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.39 308941 chr15 77310864 77310864 G A rs113386299 PSTPIP1 Synonymous SNV T68T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.79 308942 chr15 77940308 77940308 G A rs74473309 LINGO1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.19 308943 chr11 6591615 6591615 T C DNHD1 Nonsynonymous SNV M4365T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.043 308944 chr11 65733831 65733831 G A rs750998542 SART1 Nonsynonymous SNV R331H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.22 308945 chr11 67067075 67067075 G C ANKRD13D Nonsynonymous SNV R291S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 308946 chr11 64577281 64577281 C T MEN1 Nonsynonymous SNV V101I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 308947 chr11 6477659 6477659 G A rs747082474 TRIM3 Nonsynonymous SNV R314C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 308948 chr2 27436101 27436101 T C ATRAID Synonymous SNV C52C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.579 308949 chr1 145595213 145595213 G A rs781937336 POLR3C Nonsynonymous SNV P423L 0.003 0.003 0 0 3 1 0 0 0 0 0 0 33 308950 chr15 89860653 89860653 G T rs2307443 POLG Synonymous SNV T1199T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.428 308951 chr1 151495938 151495938 T C rs762411513 CGN Nonsynonymous SNV V390A 0.003 0.003 0 0 3 1 0 0 0 0 0 0 9.658 308952 chr11 65820662 65820662 T A SNORD13F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.095 308953 chr11 6592108 6592108 C T DNHD1 Synonymous SNV L4456L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.532 308954 chr11 76912659 76912659 C A MYO7A Synonymous SNV V1673V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 308955 chr11 67203579 67203579 G A PTPRCAP Synonymous SNV L82L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 308956 chr1 232162243 232162243 G A rs200687715 DISC1 Synonymous SNV L668L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.831 308957 chr1 154233537 154233537 G C rs144103198 UBAP2L Synonymous SNV G916G 0.003 0 0 0 3 0 0 0 0 0 0 0 8.116 308958 chr1 154248118 154248118 C T HAX1 Synonymous SNV L213L 0.003 0 0 0 3 0 0 0 0 0 0 0 13.25 308959 chr11 77727679 77727679 A C rs371137566 KCTD14 Nonsynonymous SNV F243C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.165 308960 chr11 102663456 102663456 T C rs56028730 MMP1 Nonsynonymous SNV T239A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.407 308961 chr11 102933101 102933101 C T rs147535725 DCUN1D5 Nonsynonymous SNV R121H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 308962 chr11 33308963 33308963 C T rs142299107 HIPK3 Nonsynonymous SNV R335W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 308963 chr16 1503835 1503835 C T CLCN7 Nonsynonymous SNV R381K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 308964 chr11 865802 865802 G A rs537993639 TSPAN4 Nonsynonymous SNV A181T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 308965 chr1 236918396 236918396 C T rs202135204 ACTN2 Synonymous SNV N684N 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.07 308966 chr11 43413392 43413392 C A rs761788698 TTC17 Nonsynonymous SNV L185I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 308967 chr16 1869225 1869225 C T HAGH 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 308968 chr11 94340704 94340704 C T rs781038818 PIWIL4 Nonsynonymous SNV R580W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 308969 chr11 47362758 47362758 C G rs371564200 MYBPC3 Nonsynonymous SNV D610H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 32 308970 chr12 10134689 10134689 G A rs753409256 CLEC12A Nonsynonymous SNV R168H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.636 308971 chr11 94730791 94730791 G A rs782210483 KDM4D Synonymous SNV V85V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.729 308972 chr2 74684976 74684976 C G rs148261026 INO80B Synonymous SNV P352P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.722 308973 chr16 24583409 24583409 A G rs766213546 RBBP6 Synonymous SNV K1640K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 308974 chr2 85049213 85049213 G A rs758288319 TRABD2A Nonsynonymous SNV P400L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 308975 chr16 31098993 31098993 G C rs541570052 PRSS53 Nonsynonymous SNV P36R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 308976 chr12 111748192 111748192 G A rs200889290 CUX2 Nonsynonymous SNV A474T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.429 308977 chr16 3141581 3141581 C G rs762690130 ZSCAN10 Nonsynonymous SNV E112D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 308978 chr2 98373837 98373837 C T rs371553887 TMEM131 Nonsynonymous SNV G1793S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 308979 chr12 11421029 11421029 G A rs199739275 PRB3 Nonsynonymous SNV P52S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.773 308980 chr12 115120700 115120700 G A TBX3 Synonymous SNV D102D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.173 308981 chr2 26702473 26702473 C T rs184605839 OTOF Nonsynonymous SNV R654Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 308982 chr11 5199173 5199173 G A rs572027743 OR52Z1 Nonsynonymous SNV T223M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.736 308983 chr12 120572141 120572141 C T rs778282991 GCN1 Nonsynonymous SNV R2424Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 308984 chr12 120907347 120907347 C T rs368892822 SRSF9 Synonymous SNV P22P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.94 308985 chr11 94731479 94731479 G T rs782347143 KDM4D Nonsynonymous SNV A315S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 308986 chr11 94731481 94731481 A G rs781961481 KDM4D Synonymous SNV A315A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.136 308987 chr11 94731483 94731483 G C rs782044085 KDM4D Nonsynonymous SNV R316T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.577 308988 chr11 94731484 94731484 G A rs782726335 KDM4D Synonymous SNV R316R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.62 308989 chr11 94731639 94731639 G A rs200025612 KDM4D Nonsynonymous SNV R368K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.068 308990 chr11 94861606 94861606 C T ENDOD1 Synonymous SNV N122N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 308991 chr2 23862053 23862053 G T KLHL29 Synonymous SNV A110A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 308992 chr2 110970290 110970290 C T MTLN Nonsynonymous SNV G20D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.661 308993 chr12 123832605 123832605 C G SBNO1 Nonsynonymous SNV V70L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 308994 chr12 50349300 50349300 C T rs778056386 AQP2 Nonsynonymous SNV P242L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 308995 chr12 118627662 118627662 G A rs777222970 TAOK3 Nonsynonymous SNV L436F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 308996 chr2 27480136 27480136 A G rs748723308 SLC30A3 Synonymous SNV P208P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.189 308997 chr2 42720572 42720572 G A KCNG3 Nonsynonymous SNV R24W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 308998 chr2 44065062 44065062 G A ABCG5 Nonsynonymous SNV S59F 0.002 0 0 0 2 0 0 0 0 0 0 0 23 308999 chr12 132547094 132547099 CAGCAG - EP400 Q2747_Q2748del 0 0 0.003 0 0 0 0 1 0 0 0 0 309000 chr16 67384179 67384179 G A rs367748415 LRRC36 Nonsynonymous SNV S67N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.346 309001 chr2 47403632 47403632 C G CALM2 Nonsynonymous SNV E17Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 309002 chr16 697510 697510 G A rs375130320 MCRIP2 Synonymous SNV V92V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.095 309003 chr2 31423423 31423423 C T CAPN14 Nonsynonymous SNV G207E 0 0 0 1 0 0 0.003 0 0 0 0 0 33 309004 chr2 31425118 31425118 C G CAPN14 Nonsynonymous SNV G99A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 309005 chr16 71885013 71885013 C A rs767730095 ATXN1L Nonsynonymous SNV P457Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.877 309006 chr16 71967817 71967817 C T rs537111482 PKD1L3 0 0 0.003 0 0 0 0 1 0 0 0 0 25 309007 chr16 72166750 72166750 A C rs772913404 PMFBP1 Synonymous SNV A448A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 309008 chr12 53647517 53647517 C T rs775283845 MFSD5 Nonsynonymous SNV R407C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 309009 chr2 42165749 42165749 G A rs148352143 C2orf91 0 0 0 1 0 0 0.003 0 0 0 0 0 12.87 309010 chr1 203798983 203798983 G A rs746452954 ZC3H11A Nonsynonymous SNV R193Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 309011 chr2 42280477 42280477 A G rs143773696 PKDCC Synonymous SNV Q246Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.864 309012 chr12 26809397 26809397 G A rs762538894 ITPR2 Synonymous SNV D759D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.435 309013 chr16 78056558 78056558 T G rs760496672 CLEC3A Nonsynonymous SNV V12G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 309014 chr2 51254673 51254673 G C rs200009780 NRXN1 Nonsynonymous SNV R247G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.445 309015 chr1 207082841 207082841 C A FCMR Nonsynonymous SNV G225V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.075 309016 chr12 3149315 3149315 A T rs776863179 TEAD4 Nonsynonymous SNV I232F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 309017 chr12 117968808 117968808 C T rs768440495 KSR2 Synonymous SNV P580P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 309018 chr16 84075593 84075593 G A rs145119400 SLC38A8 Nonsynonymous SNV P57L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 309019 chr16 84199582 84199582 C G rs750603248 DNAAF1 Nonsynonymous SNV P101A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.401 309020 chr1 211749060 211749060 C T rs755580435 SLC30A1 Synonymous SNV E398E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.273 309021 chr2 74041348 74041348 T C rs367613891 C2orf78 Nonsynonymous SNV V281A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 309022 chr2 168101726 168101726 G C XIRP2 Nonsynonymous SNV G1053A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 309023 chr12 57870384 57870384 C T rs369469980 ARHGAP9 Synonymous SNV G8G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.37 309024 chr2 74702757 74702757 G A rs776176432 CCDC142 Nonsynonymous SNV R534W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 309025 chr2 168921862 168921862 T C rs771335621 STK39 Synonymous SNV E424E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 309026 chr16 88494034 88494034 C T rs930346629 ZNF469 Synonymous SNV G52G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 309027 chr1 223989973 223989973 A T rs768611604 TP53BP2 Nonsynonymous SNV I357N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 309028 chr2 86258502 86258502 G A rs778089945 POLR1A Nonsynonymous SNV P1510L 0.002 0 0 0 2 0 0 0 0 0 0 0 19.92 309029 chr12 123687517 123687517 C T rs147539988 MPHOSPH9 Nonsynonymous SNV V479I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 309030 chr12 50467793 50467793 T A rs899057063 ASIC1 Nonsynonymous SNV N142K 0 0.003 0.007 0 0 1 0 2 0 0 0 0 18.56 309031 chr12 44142334 44142334 G A rs143739935 PUS7L Nonsynonymous SNV S17L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 309032 chr1 226109625 226109625 A G PYCR2 Nonsynonymous SNV F158S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 309033 chr12 51461613 51461613 C T rs761596262 CSRNP2 Nonsynonymous SNV R184Q 0 0 0.007 0 0 0 0 2 0 0 0 0 32 309034 chr11 36597532 36597532 A G RAG1 Nonsynonymous SNV K893R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 309035 chr16 89858924 89858924 C G rs750257902 FANCA Nonsynonymous SNV W346C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.3 309036 chr12 130921722 130921722 C T rs200419075 RIMBP2 Nonsynonymous SNV V574M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.845 309037 chr2 97527133 97527133 G A SEMA4C Nonsynonymous SNV H578Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 309038 chr17 10317558 10317558 T A rs148448600 MYH8 Nonsynonymous SNV E320V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 309039 chr12 53457147 53457147 G A TNS2 Nonsynonymous SNV R1346H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 309040 chr12 53946395 53946395 T G rs954129120 ATF7, ATF7-NPFF Synonymous SNV A25A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.629 309041 chr12 51237686 51237686 A G rs764811078 TMPRSS12 Synonymous SNV E83E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.769 309042 chr2 105713520 105713520 T C rs567986026 MRPS9-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.566 309043 chr12 52639453 52639453 G A KRT7-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 309044 chr17 17897709 17897709 C A DRC3 Synonymous SNV R230R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 309045 chr12 57175766 57175766 G A HSD17B6 Nonsynonymous SNV G108R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 309046 chr2 113888653 113888653 T G IL1RN Nonsynonymous SNV H79Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.001 309047 chr12 57650265 57650265 G A R3HDM2 Nonsynonymous SNV P795S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 309048 chr17 18907022 18907022 G C rs749187702 FAM83G Synonymous SNV A111A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.733 309049 chr2 138759660 138759660 G A rs528223406 HNMT Nonsynonymous SNV E109K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.92 309050 chr11 61252283 61252283 C T rs200978612 PPP1R32 Stop gain R169X 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 309051 chr11 61507946 61507948 AGG - DAGLA E624del 0 0.003 0 0 0 1 0 0 0 0 0 0 309052 chr11 618997 618997 - A CDHR5 Frameshift insertion P515Lfs*194 0 0.003 0 0 0 1 0 0 0 0 0 0 309053 chr11 618998 618998 G C CDHR5 Nonsynonymous SNV P515A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 309054 chr2 136626411 136626411 A T rs749796617 MCM6 Nonsynonymous SNV S129T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 309055 chr12 55846443 55846443 C A OR6C2 Nonsynonymous SNV A149D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.63 309056 chr12 68689075 68689075 G A rs139660855 MDM1 Stop gain R422X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 309057 chr11 62886526 62886526 G A rs139065446 SLC22A24 Stop gain R230X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 309058 chr12 69127323 69127323 A T NUP107 Synonymous SNV G702G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.554 309059 chr2 152385771 152385771 C T rs746969189 NEB Nonsynonymous SNV A5529T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 309060 chr11 63766456 63766456 C T rs773842328 MACROD1 Nonsynonymous SNV R315Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.1 309061 chr17 27030693 27030693 T G rs563921507 PROCA1 Synonymous SNV S182S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.525 309062 chr11 64435006 64435006 G A rs200334993 NRXN2 Nonsynonymous SNV A474V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.44 309063 chr11 65650808 65650808 A C CTSW Synonymous SNV T311T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 309064 chr2 220428200 220428200 C T rs374405158 OBSL1 Nonsynonymous SNV V853M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 309065 chr11 66481576 66481576 G A rs776183163 SPTBN2 Synonymous SNV I214I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.52 309066 chr2 179422458 179422458 T A rs201831707 TTN Nonsynonymous SNV Y20143F 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.24 309067 chr17 39118686 39118686 G A rs139147632 KRT39 Nonsynonymous SNV R280C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 309068 chr2 179594037 179594037 G A TTN Synonymous SNV C5038C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.018 309069 chr17 39458417 39458417 C T rs201973633 KRTAP29-1 Synonymous SNV S229S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 309070 chr2 232263500 232263500 A G rs201884921 B3GNT7 Nonsynonymous SNV N357S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.098 309071 chr13 21562724 21562724 C A LATS2 Nonsynonymous SNV D399Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 309072 chr11 72398756 72398756 T C ARAP1 Synonymous SNV T1049T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.555 309073 chr12 55248412 55248412 C T rs201867480 MUCL1 Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.671 309074 chr17 40620092 40620092 G C ATP6V0A1 Nonsynonymous SNV E87D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 309075 chr11 73978224 73978224 A G P4HA3 Nonsynonymous SNV V566A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.981 309076 chr2 234869635 234869635 A G rs750978045 TRPM8 Synonymous SNV K526K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.428 309077 chr2 235949623 235949623 C T SH3BP4 Synonymous SNV N70N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 309078 chr2 235950945 235950945 G T rs35521640 SH3BP4 Nonsynonymous SNV R511L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 309079 chr17 4083079 4083079 G A rs764627604 ANKFY1 Synonymous SNV A820A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 309080 chr13 31002221 31002221 T G UBE2L5 Nonsynonymous SNV L32V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 309081 chr17 42226270 42226270 A G rs376112719 C17orf53 Nonsynonymous SNV I367V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 309082 chr17 422477 422477 G A rs541102575 VPS53 Nonsynonymous SNV P797L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 309083 chr11 76257135 76257135 A G EMSY Nonsynonymous SNV T1191A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.1 309084 chr17 42455808 42455808 G A rs148888502 ITGA2B Synonymous SNV G672G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.158 309085 chr17 42744207 42744207 G C rs774345418 MEIOC Nonsynonymous SNV E310Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 309086 chr13 36124701 36124701 A G NBEA Nonsynonymous SNV T18A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 309087 chr13 36827969 36827969 G A rs79770535 CCDC169, CCDC169-SOHLH2 Nonsynonymous SNV R47C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 309088 chr17 45056055 45056055 G A rs776126784 RPRML Nonsynonymous SNV R107W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 309089 chr11 78419504 78419504 G C TENM4 Nonsynonymous SNV R1371G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 309090 chr17 47126782 47126787 CCAGGC - rs761658543 IGF2BP1 Q434_A435del 0 0 0.003 0 0 0 0 1 0 0 0 0 309091 chr2 242063393 242063393 C G rs1040638477 PASK Nonsynonymous SNV A959P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 309092 chr2 48809303 48809303 C T rs375954695 STON1, STON1-GTF2A1L Nonsynonymous SNV R511W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 309093 chr2 242758180 242758180 G A rs748822220 NEU4 Nonsynonymous SNV D434N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 309094 chr2 54483092 54483092 T A rs758119019 TSPYL6 Nonsynonymous SNV D66V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.484 309095 chr17 48615383 48615383 G C LOC105371824 0 0 0.003 0 0 0 0 1 0 0 0 0 1.179 309096 chr11 89182672 89182672 C T rs144387171 NOX4 Synonymous SNV R70R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.86 309097 chr13 21729289 21729289 - CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAAC SKA3 Stop gain K374_R388delinsVP 0.001 0 0 0 1 0 0 0 0 0 0 0 309098 chr2 64126628 64126628 G A VPS54 Nonsynonymous SNV L893F 0.001 0 0 0 1 0 0 0 0 0 0 0 31 309099 chr11 93554021 93554021 G C VSTM5 Synonymous SNV V149V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.65 309100 chr11 95826606 95826606 C T rs572287957 MAML2 Nonsynonymous SNV D197N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.3 309101 chr17 56585635 56585635 T G MTMR4 Nonsynonymous SNV K184N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 309102 chr12 78513393 78513393 C G NAV3 Synonymous SNV P1139P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 309103 chr17 60744833 60744833 C T rs200470961 MRC2 Synonymous SNV S352S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 309104 chr12 92539304 92539304 G A rs1023262121 BTG1 Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 309105 chr3 38101245 38101245 C T rs34012183 DLEC1 Nonsynonymous SNV S192F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.77 309106 chr3 38317414 38317414 T C rs139446526 SLC22A13 Nonsynonymous SNV V355A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 309107 chr14 21623363 21623363 G C rs57985939 OR5AU1 Nonsynonymous SNV N223K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.35 309108 chr14 21623604 21623604 G A rs59120409 OR5AU1 Nonsynonymous SNV S143L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 309109 chr14 21623924 21623924 T G rs17102038 OR5AU1 Synonymous SNV T36T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 309110 chr14 21623947 21623947 C T rs17102042 OR5AU1 Nonsynonymous SNV V29M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.806 309111 chr2 97359283 97359283 C T rs771366175 FER1L5 Synonymous SNV C1111C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.49 309112 chr2 238283664 238283664 C T COL6A3 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 309113 chr14 23518275 23518275 C T rs200471169 CDH24 Nonsynonymous SNV A603T 0 0 0.003 0 0 0 0 1 0 0 0 0 35 309114 chr14 23885349 23885349 C T rs373514686 MYH7 Nonsynonymous SNV R1606H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 309115 chr13 103390858 103390858 C T CCDC168 Synonymous SNV Q4063Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.373 309116 chr14 24526213 24526213 C T rs140030582 CARMIL3 Nonsynonymous SNV L348F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 309117 chr2 241827972 241827972 A G rs1001618367 MAB21L4 Nonsynonymous SNV C330R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 309118 chr14 24738330 24738330 T C rs200739130 RABGGTA Nonsynonymous SNV N224S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 309119 chr13 110814734 110814734 C G rs376372101 COL4A1 Synonymous SNV G1435G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 309120 chr14 31844163 31844163 C T rs200751288 HEATR5A Nonsynonymous SNV V574I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 309121 chr12 120569065 120569065 G A rs929417383 GCN1 Nonsynonymous SNV A2496V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 309122 chr13 111991718 111991718 G C TEX29 Nonsynonymous SNV Q57H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.684 309123 chr14 59930619 59930619 G T GPR135 Nonsynonymous SNV N442K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 309124 chr13 20717094 20717094 C G rs747097789 GJA3 Nonsynonymous SNV E112Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.59 309125 chr3 10119859 10119859 C T rs780773924 FANCD2 Nonsynonymous SNV A948V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 309126 chr3 12942878 12942878 C T rs202035528 IQSEC1 Nonsynonymous SNV A984T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.08 309127 chr3 49689158 49689158 G A BSN Synonymous SNV E723E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.605 309128 chr3 13393678 13393678 G A rs141400679 NUP210 Nonsynonymous SNV P879S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.002 309129 chr14 65239486 65239486 G A rs745688508 SPTB Nonsynonymous SNV R1789C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 309130 chr17 76969261 76969261 C T rs79400297 LGALS3BP Synonymous SNV S140S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 309131 chr12 125448961 125448961 G A rs61757599 DHX37 Nonsynonymous SNV T675M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 309132 chr13 30066783 30066783 A G rs771485636 MTUS2 Nonsynonymous SNV E148G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 309133 chr17 78064173 78064173 - C rs58064706 CCDC40 Frameshift insertion R1024Qfs*70 0 0 0.003 0 0 0 0 1 0 0 0 0 309134 chr12 130884331 130884331 C G rs757035952 RIMBP2 Nonsynonymous SNV V1009L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 309135 chr3 52428537 52428537 G A rs372328204 DNAH1 Synonymous SNV P3561P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.36 309136 chr13 33284136 33284136 A G rs199567336 PDS5B Synonymous SNV S672S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.184 309137 chr14 64580104 64580104 G A rs138644399 SYNE2 Nonsynonymous SNV A4219T 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.038 309138 chr14 65234054 65234054 C T rs200787781 SPTB Nonsynonymous SNV R2079H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 309139 chr14 65252607 65252607 C T rs200385949 SPTB Synonymous SNV R1208R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.83 309140 chr14 65511444 65511444 G A rs148215176 MIR4706 0 0 0.003 0 0 0 0 1 0 0 0 0 5.609 309141 chr14 65560390 65560390 T C rs115053488 LOC100506321 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.536 309142 chr14 68353798 68353799 TG - RAD51B V212Cfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 309143 chr3 72428560 72428560 A G RYBP Synonymous SNV S49S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.309 309144 chr14 74727356 74727356 C T rs375155660 VSX2 Nonsynonymous SNV R274C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 309145 chr3 41275055 41275055 G A CTNNB1 Synonymous SNV Q407Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.119 309146 chr14 24785851 24785851 C T rs17849863 LTB4R Synonymous SNV L332L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.03 309147 chr3 44598609 44598609 C T rs35696191 ZKSCAN7 Nonsynonymous SNV R24C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 309148 chr3 44611677 44611677 G A rs34181686 ZKSCAN7 Nonsynonymous SNV E208K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.79 309149 chr3 44611683 44611683 G T rs139574498 ZKSCAN7 Nonsynonymous SNV G210W 0 0 0 1 0 0 0.003 0 0 0 0 0 6.361 309150 chr12 27890532 27890532 T C MRPS35 X195R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.39 309151 chr3 44612137 44612137 G A rs61753455 ZKSCAN7 Nonsynonymous SNV R361Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.363 309152 chr3 44854594 44854594 A G rs115788635 KIF15 Nonsynonymous SNV T769A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.35 309153 chr14 88652476 88652476 C T rs144976232 KCNK10 Synonymous SNV A340A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 309154 chr14 90398960 90398960 C A EFCAB11 Stop gain E77X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 309155 chr14 90398961 90398961 G A rs367898287 EFCAB11 Synonymous SNV L76L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.924 309156 chr12 29617664 29617664 A G rs758043740 OVCH1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.735 309157 chr12 29648265 29648265 A G rs145585474 OVCH1 Nonsynonymous SNV M136T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23 309158 chr14 92563031 92563031 C T rs531719156 ATXN3 Nonsynonymous SNV R59H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 309159 chr3 45137027 45137027 C T rs372469907 CDCP1 Nonsynonymous SNV R353Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 309160 chr3 45988573 45988573 C T rs73830634 CXCR6 Synonymous SNV F200F 0 0 0 1 0 0 0.003 0 0 0 0 0 11.78 309161 chr3 46003832 46003832 T C rs73830668 FYCO1 Nonsynonymous SNV K1108E 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.5 309162 chr3 46245525 46245525 T G rs138822282 CCR1 Nonsynonymous SNV K94Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 309163 chr14 95033483 95033484 GT - rs747847639 SERPINA4 F315Hfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 309164 chr14 103371641 103371641 G A rs150483724 TRAF3 Synonymous SNV L326L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.07 309165 chr18 33779701 33779701 G A rs367827518 MOCOS Nonsynonymous SNV G119R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 309166 chr3 48687978 48687978 C T rs587777163 CELSR3 Nonsynonymous SNV G2136D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.1 309167 chr11 95561150 95561150 A C CEP57 Nonsynonymous SNV E336D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.442 309168 chr18 47802304 47802304 A G rs762220400 MBD1 Synonymous SNV C188C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.139 309169 chr3 121527768 121527768 T C rs376700204 IQCB1 Nonsynonymous SNV Q161R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.05 309170 chr3 52492815 52492815 C T rs200818525 NISCH Synonymous SNV G105G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.56 309171 chr15 34651911 34651911 G C rs202180768 LPCAT4 Synonymous SNV R426R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.906 309172 chr3 53796100 53796100 G A rs781171340 CACNA1D Nonsynonymous SNV E1288K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 309173 chr3 126751583 126751583 G A rs139982539 PLXNA1 Synonymous SNV A1833A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.42 309174 chr14 23468031 23468031 G A rs753294201 C14orf93 Nonsynonymous SNV R68W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 309175 chr12 53071118 53071118 C T KRT1 Synonymous SNV E370E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.95 309176 chr15 48063781 48063781 G A rs141992262 SEMA6D Synonymous SNV A945A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.797 309177 chr15 51529166 51529166 G A rs60308277 CYP19A1 Synonymous SNV H62H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.343 309178 chr15 52258570 52258570 C A rs138450382 LEO1 Nonsynonymous SNV D64Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 309179 chr12 53876924 53876924 G A rs753633525 MAP3K12 Synonymous SNV L555L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.941 309180 chr12 54686187 54686187 G A rs150756699 NFE2 Nonsynonymous SNV R365W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 309181 chr18 7926612 7926612 T C rs370655652 PTPRM Synonymous SNV A198A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 309182 chr12 56079017 56079017 G A rs201977360 ITGA7 Nonsynonymous SNV A632V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 309183 chr19 10207124 10207124 G A rs1021049166 ANGPTL6 Nonsynonymous SNV T39M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 309184 chr15 64067532 64067532 G A rs371913879 HERC1 Synonymous SNV S97S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.155 309185 chr14 50100781 50100781 C T DNAAF2 Nonsynonymous SNV A363T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 309186 chr19 11034527 11034528 AA - rs758263923 YIPF2 F172Cfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 309187 chr3 121345555 121345555 G A rs147110063 FBXO40 Nonsynonymous SNV S643N 0 0 0 1 0 0 0.003 0 0 0 0 0 31 309188 chr15 67835697 67835697 C G rs763715922 MAP2K5 Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 309189 chr3 155628662 155628662 G A rs35910218 GMPS Synonymous SNV T236T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.93 309190 chr19 12155741 12155741 G A rs763085446 ZNF878 Nonsynonymous SNV R159C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 309191 chr15 64966743 64966743 T A ZNF609 Nonsynonymous SNV S564T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 309192 chr3 170150360 170150360 G A rs146493095 CLDN11 Nonsynonymous SNV R63H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 309193 chr15 74631641 74631641 G A rs751829411 CYP11A1 Synonymous SNV S391S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 309194 chr19 14200696 14200696 G A SAMD1 Synonymous SNV G179G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.755 309195 chr14 57735355 57735355 C T EXOC5 Synonymous SNV T4T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 309196 chr3 179051819 179051819 A G rs187459215 ZNF639 Nonsynonymous SNV H356R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.685 309197 chr15 83926208 83926208 T C rs376266590 BNC1 Nonsynonymous SNV S984G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 309198 chr15 75499624 75499624 C T rs537106521 C15orf39 Nonsynonymous SNV A412V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 309199 chr19 16145550 16145550 G T rs1005520713 LINC00905, LINC00905 0 0 0.003 0 0 0 0 1 0 0 0 0 6.668 309200 chr15 85164545 85164545 C T rs776017513 ZSCAN2 Synonymous SNV Y373Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.885 309201 chr15 88799302 88799302 G A rs201985502 NTRK3 Nonsynonymous SNV S28F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 309202 chr15 89379448 89379448 T C rs202166561 ACAN Nonsynonymous SNV L4S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 309203 chr3 140397221 140397221 C G rs141361028 TRIM42 Nonsynonymous SNV C50W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 309204 chr14 75143010 75143010 T C rs776565734 AREL1 Synonymous SNV E222E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.252 309205 chr12 96691053 96691053 C T rs780953802 CDK17 Nonsynonymous SNV V290I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 309206 chr12 97158908 97158908 A G CFAP54 Synonymous SNV R2731R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.679 309207 chr13 102105194 102105194 C G rs781700312 ITGBL1 Nonsynonymous SNV P4A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.846 309208 chr19 19312740 19312742 CTT - NR2C2AP K138del 0 0 0.003 0 0 0 0 1 0 0 0 0 309209 chr19 19758293 19758293 C T rs768506622 ATP13A1 Synonymous SNV T946T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 309210 chr13 103515288 103515288 G C rs4150319 BIVM-ERCC5, ERCC5 Nonsynonymous SNV V597L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.057 309211 chr15 95399447 95399447 G A rs879216472 LOC440311 0 0 0.003 0 0 0 0 1 0 0 0 0 9.1 309212 chr15 42644299 42644299 C T GANC Nonsynonymous SNV L903F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 309213 chr19 2254213 2254213 C A JSRP1 Nonsynonymous SNV G79W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 309214 chr15 89870019 89870020 AA - MIR6766 0.001 0 0 0 1 0 0 0 0 0 0 0 309215 chr13 111114631 111114631 G A rs199574157 COL4A2 Nonsynonymous SNV R559Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.61 309216 chr15 89870023 89870027 TCTGC - MIR6766 0.001 0 0 0 1 0 0 0 0 0 0 0 309217 chr4 983403 983403 G A SLC26A1 Synonymous SNV L442L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.559 309218 chr14 93022286 93022286 C T rs138756494 RIN3 Nonsynonymous SNV R79W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 309219 chr3 180337074 180337074 T A rs876657752 CCDC39 Nonsynonymous SNV Q746H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 309220 chr4 3231679 3231679 A C rs201467885 HTT Synonymous SNV T2725T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.84 309221 chr3 9979716 9979716 A C rs773370193 CRELD1 Nonsynonymous SNV D129A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 309222 chr13 25283511 25283511 A C ATP12A Nonsynonymous SNV I841L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.33 309223 chr16 15818817 15818817 G A rs541280738 MYH11 Synonymous SNV N1297N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.601 309224 chr19 35996624 35996624 T G DMKN Nonsynonymous SNV N73T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 309225 chr19 36212123 36212123 C T KMT2B Nonsynonymous SNV P625L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 309226 chr15 102346447 102346447 T C rs755731243 OR4F6 Synonymous SNV D175D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 309227 chr3 30029695 30029695 C T rs138133053 RBMS3 Nonsynonymous SNV P369L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 309228 chr15 38591665 38591665 G A rs147204964 SPRED1 Nonsynonymous SNV V42I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 309229 chr4 36069750 36069750 T G ARAP2 Nonsynonymous SNV S1632R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 309230 chr16 30537692 30537692 C T rs571375878 ZNF768 Nonsynonymous SNV V15M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 309231 chr15 41192407 41192407 G A rs776144892 VPS18 Nonsynonymous SNV R464Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 309232 chr4 38916610 38916610 G A rs117679360 FAM114A1 Synonymous SNV A80A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.489 309233 chr16 30900235 30900235 G A rs3751871 BCL7C Synonymous SNV D158D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 309234 chr16 31485899 31485899 C T rs767567482 TGFB1I1 Nonsynonymous SNV P179S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 309235 chr16 4016446 4016446 G A rs201367484 ADCY9 Nonsynonymous SNV P1131L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 309236 chr16 24788396 24788434 GCAGCCGCAGCAGCAGCAGCCACAGCAGCAGCCACAGCC - rs754588170 TNRC6A P115_Q127del 0.001 0 0 0 1 0 0 0 0 0 0 0 309237 chr4 3149862 3149862 C T rs374106761 HTT Synonymous SNV F1142F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.54 309238 chr16 4492409 4492409 C T rs900141330 DNAJA3 Synonymous SNV G104G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.826 309239 chr19 42729069 42729069 C A rs143231579 ZNF526 Nonsynonymous SNV P172T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.476 309240 chr16 50249992 50249992 C T rs372088845 TENT4B Synonymous SNV I272I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 309241 chr16 50346826 50346826 G C rs200797412 ADCY7 Nonsynonymous SNV C877S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 309242 chr19 44302647 44302647 G T LYPD5 Nonsynonymous SNV D116E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 309243 chr4 57273847 57273847 C G rs142893232 PPAT Nonsynonymous SNV G55A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 309244 chr16 55360320 55360320 G A IRX6 Nonsynonymous SNV G40S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 309245 chr16 30521765 30521765 C T ITGAL Synonymous SNV S780S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.63 309246 chr4 68370977 68370977 A T rs201011714 CENPC Nonsynonymous SNV Y693N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.578 309247 chr14 105421897 105421897 C G rs769514285 AHNAK2 Nonsynonymous SNV G30A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 309248 chr16 56226725 56226725 C T rs56271220 DKFZP434H168 0 0 0.003 0 0 0 0 1 0 0 0 0 7.693 309249 chr4 7719770 7719770 G C rs766241747 SORCS2 Nonsynonymous SNV G762R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 309250 chr3 49760498 49760498 A G rs147516683 GMPPB Synonymous SNV P103P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 1.578 309251 chr3 51127774 51127774 C A DOCK3 Synonymous SNV V235V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 309252 chr3 51929216 51929216 C T rs371107762 IQCF1 Nonsynonymous SNV R103Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 309253 chr15 62202487 62202487 T C rs149819831 VPS13C Synonymous SNV P2868P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.805 309254 chr3 52540242 52540242 C G STAB1 Synonymous SNV V602V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 309255 chr14 20944568 20944568 C T rs563086985 PNP Synonymous SNV I226I 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.2 309256 chr3 52540243 52540243 C G STAB1 Nonsynonymous SNV L603V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 309257 chr3 52540250 52540250 T G STAB1 Nonsynonymous SNV V605G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 309258 chr3 52546624 52546624 A G rs148929708 STAB1 Nonsynonymous SNV N998D 0.001 0 0 0 1 0 0 0 0 0 0 0 23 309259 chr3 52721395 52721396 AG - rs761371320 GNL3 R70Afs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 309260 chr4 84222159 84222159 C T HPSE Nonsynonymous SNV D402N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 309261 chr16 70543221 70543221 G A COG4 Synonymous SNV T301T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 309262 chr3 53899057 53899057 A G rs143904356 IL17RB Nonsynonymous SNV S411G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.698 309263 chr19 47920204 47920204 G T rs140643747 MEIS3 Nonsynonymous SNV L68I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.2 309264 chr19 48185289 48185289 G A rs751457604 BICRA Synonymous SNV S721S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 309265 chr4 90169041 90169041 A C rs201266481 GPRIN3 Nonsynonymous SNV S741A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 309266 chr4 90856920 90856920 A G rs201836875 MMRN1 Nonsynonymous SNV K697E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 309267 chr14 23744865 23744865 C T HOMEZ Synonymous SNV L524L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.954 309268 chr19 48637261 48637261 G A rs776651223 LIG1 Nonsynonymous SNV P461L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 309269 chr16 77775515 77775515 G C NUDT7 Nonsynonymous SNV D76H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 309270 chr4 106156930 106156930 A T TET2 Nonsynonymous SNV M611L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 309271 chr4 106162497 106162497 G A TET2 Synonymous SNV E1137E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.475 309272 chr16 84104257 84104257 G A rs747271472 MBTPS1 Nonsynonymous SNV A573V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 309273 chr15 78401625 78401625 C T rs756137635 CIB2 Nonsynonymous SNV E51K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 309274 chr16 57993919 57993919 T A rs192628905 CNGB1 Nonsynonymous SNV T212S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.004 309275 chr14 31855652 31855652 G A HEATR5A Nonsynonymous SNV A440V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 309276 chr4 114276463 114276463 G A ANK2 Nonsynonymous SNV S2230N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 309277 chr19 50149460 50149463 GTGA - SCAF1 0 0 0.003 0 0 0 0 1 0 0 0 0 309278 chr4 120221777 120221777 G A rs527717324 C4orf3 Nonsynonymous SNV R105C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.006 309279 chr14 45665618 45665618 G A FANCM Nonsynonymous SNV V1836M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.2 309280 chr4 125590738 125590738 T C rs369701008 ANKRD50 Nonsynonymous SNV I1053V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 309281 chr16 20990669 20990669 C T rs867342246 DNAH3 Nonsynonymous SNV D2641N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 309282 chr16 88677897 88677902 GGAGAA - rs780581390 ZC3H18 E479_K480del 0 0 0.003 0 0 0 0 1 0 0 0 0 309283 chr4 144107170 144107170 G A USP38 Synonymous SNV R189R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.476 309284 chr4 152622612 152622612 C T rs776470411 GATB Nonsynonymous SNV A356T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.994 309285 chr4 85707142 85707142 A G WDFY3 Nonsynonymous SNV I1351T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 309286 chr16 74499598 74499598 C T GLG1 Nonsynonymous SNV M870I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 309287 chr16 89783937 89783937 C A rs192948350 VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.032 309288 chr16 89925580 89925580 A G SPIRE2 Nonsynonymous SNV E427G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 309289 chr16 2987325 2987325 G A rs61747748 FLYWCH1 Nonsynonymous SNV G573S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 309290 chr19 53572466 53572466 C T ZNF160 Nonsynonymous SNV G441R 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 19.49 309291 chr4 155411881 155411881 C T DCHS2 Synonymous SNV P209P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 309292 chr17 10303770 10303770 C A rs202177216 MYH8 Nonsynonymous SNV K1224N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 309293 chr16 81232577 81232577 G A rs374297288 PKD1L2 Synonymous SNV D411D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.204 309294 chr14 68222705 68222707 TTC - rs764479245 ZFYVE26 K2248del 0 0.003 0 0 0 1 0 0 0 0 0 0 309295 chr19 54652264 54652264 G A rs770957095 CNOT3 Nonsynonymous SNV A426T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 309296 chr19 54823192 54823192 G A rs745631765 LILRA5 Synonymous SNV Y105Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 309297 chr14 73711318 73711318 G A LOC101928123 0 0.003 0 0 0 1 0 0 0 0 0 0 1.286 309298 chr14 74188070 74188070 T C rs745418178 ELMSAN1 Nonsynonymous SNV E956G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.8 309299 chr19 55045065 55045065 A G KIR3DX1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 309300 chr17 1636940 1636940 G A rs200373383 WDR81 Nonsynonymous SNV G334S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.268 309301 chr17 16893431 16893431 G A rs115691557 LINC02090 0 0 0.007 0 0 0 0 2 0 0 0 0 2.896 309302 chr17 17931621 17931621 G A rs747257537 ATPAF2 Synonymous SNV S83S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 8.432 309303 chr4 186274683 186274683 T A rs746941739 SNX25 Nonsynonymous SNV D673E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 309304 chr16 4606886 4606886 G A rs369595727 C16orf96 Synonymous SNV E132E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.909 309305 chr14 81964374 81964374 C T rs754518891 SEL1L Synonymous SNV S330S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.32 309306 chr16 2052358 2052358 G A ZNF598 Synonymous SNV S248S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 309307 chr16 511411 511411 A T RAB11FIP3 Nonsynonymous SNV D241V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 309308 chr16 88778581 88778581 G A rs573430861 CTU2 Synonymous SNV A152A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.12 309309 chr16 20787325 20787325 C T ACSM3 Synonymous SNV P128P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 309310 chr5 1064243 1064243 G A rs769063291 SLC12A7 Synonymous SNV D854D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.769 309311 chr16 21737890 21737890 C G rs372053691 OTOA Nonsynonymous SNV L319V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 309312 chr5 1232902 1232902 T A rs747196067 SLC6A18 Nonsynonymous SNV L113Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 309313 chr5 9122935 9122935 G A rs747147008 SEMA5A Synonymous SNV T538T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.213 309314 chr14 95081138 95081138 G A rs970271206 SERPINA3 Synonymous SNV Q120Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.412 309315 chr17 10443370 10443370 A G MYH2 Nonsynonymous SNV I341T 0.003 0 0 0 3 0 0 0 0 0 0 0 24.7 309316 chr14 96788588 96788588 C G ATG2B Nonsynonymous SNV V914L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 309317 chr5 14498717 14498717 C T rs146227809 TRIO Nonsynonymous SNV S2767L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 309318 chr16 58757663 58757663 G A rs765537389 GOT2 Nonsynonymous SNV P78L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 309319 chr5 16680203 16680203 G A rs185852742 MYO10 Synonymous SNV N1465N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.8 309320 chr16 28880679 28880679 C T rs771739250 SH2B1 Synonymous SNV S92S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 309321 chr19 6216490 6216490 G A rs939206068 MLLT1 Synonymous SNV S411S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 309322 chr19 6222268 6222268 G A rs762239820 MLLT1 Nonsynonymous SNV S325L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 309323 chr4 170400556 170400556 C T rs199827465 NEK1 Nonsynonymous SNV V616M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.8 309324 chr17 34892999 34892999 A G PIGW Nonsynonymous SNV T17A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 309325 chr16 30773965 30773965 C A RNF40 Synonymous SNV I33I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 309326 chr16 31120661 31120661 C T rs896857362 BCKDK Synonymous SNV H39H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 309327 chr5 38511932 38511932 G C LIFR Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.78 309328 chr19 7120675 7120675 C T rs146546375 INSR Synonymous SNV P1193P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.17 309329 chr5 39331804 39331804 A G C9 Nonsynonymous SNV W197R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 309330 chr19 7810729 7810729 A G rs768329042 CD209 Synonymous SNV S97S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 309331 chr15 33261679 33261679 - T rs756504955 FMN1 0 0.003 0 0 0 1 0 0 0 0 0 0 309332 chr19 8145947 8145947 C G FBN3 Nonsynonymous SNV V2465L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.833 309333 chr16 4414805 4414805 C T rs112630763 CORO7, CORO7-PAM16 Nonsynonymous SNV V254M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 309334 chr19 889706 889706 C T rs756770436 MED16 Nonsynonymous SNV E127K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.28 309335 chr16 461493 461493 T C DECR2 Nonsynonymous SNV L265P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 309336 chr5 205816 205816 C T rs770092083 CCDC127 Nonsynonymous SNV V127M 0 0 0 1 0 0 0.003 0 0 0 0 0 11.51 309337 chr15 41188222 41188222 C T VPS18 Nonsynonymous SNV L60F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 309338 chr15 41341580 41341580 A C INO80 Synonymous SNV T827T 0 0.003 0 0 0 1 0 0 0 0 0 0 1.912 309339 chr5 71528272 71528272 T G rs11557155 MRPS27 Nonsynonymous SNV S141R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 309340 chr16 87717820 87717820 C T rs140244379 JPH3 Synonymous SNV I411I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 309341 chr17 3181834 3181834 G C rs775305453 OR3A2 Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.801 309342 chr4 3122989 3122989 A C rs374501542 HTT Nonsynonymous SNV Q368P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 309343 chr16 67863900 67863900 A G rs573330933 CENPT Synonymous SNV S318S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.297 309344 chr1 109649279 109649279 G A C1orf194 Nonsynonymous SNV T67I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 309345 chr5 108380421 108380421 A G rs139628994 FER Nonsynonymous SNV K216R 0.002 0 0 0 2 0 0 0 0 0 0 0 25 309346 chr16 89167634 89167634 C T rs145470870 ACSF3 Nonsynonymous SNV P182L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.568 309347 chr5 54721070 54721070 T G PLPP1 Synonymous SNV T273T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.27 309348 chr1 111435048 111435048 T C CD53 Nonsynonymous SNV S49P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 309349 chr1 111494885 111494885 T C rs780616711 LRIF1 Synonymous SNV Q207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.986 309350 chr5 56189501 56189501 A T rs763798432 MAP3K1 Synonymous SNV T1511T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 309351 chr5 74491971 74491971 T C ANKRD31 Nonsynonymous SNV I168V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.023 309352 chr5 75914023 75914023 G T F2RL2 Nonsynonymous SNV T148K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 309353 chr5 78610474 78610474 C A JMY Nonsynonymous SNV P820H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 309354 chr1 120279778 120279778 C A rs147866831 PHGDH Synonymous SNV V278V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.68 309355 chr5 80626733 80626733 G A rs80124231 ACOT12 Nonsynonymous SNV S473L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 309356 chr15 74032351 74032351 C T rs747936065 INSYN1 Synonymous SNV T263T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.63 309357 chr5 137290062 137290062 G C FAM13B Nonsynonymous SNV P482R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 309358 chr16 88923235 88923235 G A GALNS Synonymous SNV L17L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.705 309359 chr5 140783873 140783873 T C rs200297928 PCDHGA9 Nonsynonymous SNV F452L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 309360 chr1 154437615 154437615 A G rs151155578 IL6R Nonsynonymous SNV R358G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 309361 chr5 98192406 98192406 T G CHD1 Nonsynonymous SNV H1604P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.18 309362 chr5 145631291 145631291 C T rs757129061 RBM27 Nonsynonymous SNV R433C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 309363 chr17 10595250 10595250 T C rs2271228 SCO1 Synonymous SNV P198P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.193 309364 chr1 155330110 155330110 G A ASH1L Synonymous SNV S2264S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 309365 chr17 1707974 1707974 C A SMYD4 Nonsynonymous SNV M105I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 309366 chr15 91147646 91147646 A G rs751844049 CRTC3 Nonsynonymous SNV H148R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.04 309367 chr1 16065764 16065764 C T SLC25A34 Nonsynonymous SNV R260W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 309368 chr17 19683909 19683909 C A rs763150772 ULK2 Nonsynonymous SNV C931F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 309369 chr1 161202605 161202605 G T NR1I3 Synonymous SNV P151P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.272 309370 chr5 156810325 156810325 G A rs778009198 CYFIP2 Synonymous SNV P1029P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 309371 chr5 157162858 157162858 C T rs149783002 THG1L Synonymous SNV H49H 0.002 0 0 0 2 0 0 0 0 0 0 0 13.52 309372 chr5 160886650 160886650 G C rs2964779 GABRB2 Synonymous SNV G146G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.53 309373 chr17 57721681 57721681 C T rs139085965 CLTC Synonymous SNV T29T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 309374 chr16 129304 129304 G A rs112187829 MPG Nonsynonymous SNV A5T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 309375 chr17 61787900 61787900 C T STRADA Nonsynonymous SNV G141R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 309376 chr1 171537444 171537444 A G rs149286615 PRRC2C Nonsynonymous SNV N2204S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 309377 chr17 26862034 26862034 G A rs768671496 FOXN1 Nonsynonymous SNV R482Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.18 309378 chr16 15135480 15135480 C G NTAN1 Nonsynonymous SNV E58Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27 309379 chr1 172108145 172108145 A G rs57417995 DNM3OS 0 0 0.01 0 0 0 0 3 0 0 0 0 11.2 309380 chr1 172558594 172558594 A G rs78411230 SUCO Nonsynonymous SNV S222G 0 0 0.007 0 0 0 0 2 0 0 0 0 12 309381 chr4 110236375 110236375 G C COL25A1-DT 0.001 0 0 0 1 0 0 0 0 0 0 0 3.978 309382 chr1 174219706 174219706 A G RABGAP1L Nonsynonymous SNV S234G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 309383 chr1 176853523 176853523 G A rs773275290 ASTN1 Nonsynonymous SNV R1060C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 309384 chr17 8638873 8638873 G A rs147370742 CCDC42 Synonymous SNV H183H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.546 309385 chr17 9613387 9613387 A G rs958256991 USP43 Nonsynonymous SNV K704R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 309386 chr18 12264415 12264415 A G rs149990783 CIDEA Nonsynonymous SNV H98R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.9 309387 chr5 180338506 180338506 T G rs141844193 BTNL8 Nonsynonymous SNV F73V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.81 309388 chr16 20999109 20999111 AAG - rs773892063 DNAH3 F2216del 0 0.003 0 0 0 1 0 0 0 0 0 0 309389 chr16 22134435 22134435 C T rs763370451 VWA3A Synonymous SNV D462D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.31 309390 chr6 3273454 3273454 G A rs148648616 SLC22A23 Synonymous SNV N351N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.427 309391 chr6 3850644 3850644 C T rs144921822 FAM50B Nonsynonymous SNV T200M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 23.5 309392 chr16 23647099 23647099 G A rs45487491 PALB2 Synonymous SNV S256S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.272 309393 chr15 42437828 42437828 G A rs139834728 PLA2G4F Synonymous SNV T575T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.856 309394 chr6 24357820 24357820 G T DCDC2 Synonymous SNV G53G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.241 309395 chr18 47812505 47812505 G A rs748854572 CXXC1 Nonsynonymous SNV P116S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.77 309396 chr6 25777058 25777058 T C SLC17A4 Nonsynonymous SNV V380A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 309397 chr17 74289249 74289249 A G rs147524249 QRICH2 Nonsynonymous SNV V354A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.1 309398 chr15 45440122 45440122 C T rs754223803 DUOX1 Nonsynonymous SNV R857C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 309399 chr16 335174 335174 C T rs761537026 PDIA2 Nonsynonymous SNV R257C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 309400 chr6 28094569 28094569 C A rs369780697 ZSCAN16 Synonymous SNV G132G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 309401 chr16 3406703 3406703 G T OR2C1 Nonsynonymous SNV A255S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.72 309402 chr6 33746106 33746107 CC - LEMD2 E55Ifs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 309403 chr5 176931231 176931231 G C DOK3 Nonsynonymous SNV P359R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.622 309404 chr16 427452 427452 C T rs146645376 PGAP6 Nonsynonymous SNV V145I 0 0.003 0 0 0 1 0 0 0 0 0 0 7.529 309405 chr16 4414661 4414661 C T rs774654014 CORO7, CORO7-PAM16 Synonymous SNV P273P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.14 309406 chr16 4415026 4415026 C T rs762515736 CORO7, CORO7-PAM16 Synonymous SNV P207P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.45 309407 chr6 38759367 38759367 C A rs200401493 DNAH8 Nonsynonymous SNV L723M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 309408 chr15 60919444 60919444 C A rs201735416 RORA Nonsynonymous SNV A44S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.667 309409 chr16 4833993 4833993 G C rs569599063 SEPTIN12 Nonsynonymous SNV R151G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 309410 chr16 4934368 4934368 G C PPL Nonsynonymous SNV L1430V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 309411 chr16 49670447 49670447 A G rs200880737 ZNF423 Synonymous SNV H755H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 309412 chr17 78328008 78328008 G A RNF213-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.897 309413 chr6 42631140 42631140 A G rs769243019 UBR2 Synonymous SNV P1227P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.825 309414 chr16 570497 570497 C A RAB11FIP3 Nonsynonymous SNV N375K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 309415 chr16 58201117 58201117 A G CSNK2A2 Synonymous SNV Y240Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.852 309416 chr6 28402261 28402261 G A rs1041295550 ZSCAN23 Nonsynonymous SNV P384L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.246 309417 chr19 12474388 12474388 T A rs138483442 ZNF442 Nonsynonymous SNV N20Y 0 0 0.007 0 0 0 0 2 0 0 0 0 12.59 309418 chr19 1255587 1255587 G A rs139011058 MIDN Synonymous SNV P341P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.34 309419 chr19 12575058 12575060 AAG - ZNF709 P559_Y560delinsH 0 0 0.003 0 0 0 0 1 0 0 0 0 309420 chr6 51889688 51889688 T C rs142465959 PKHD1 Synonymous SNV V1640V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.288 309421 chr16 67208243 67208243 G C NOL3 Nonsynonymous SNV R57S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 309422 chr19 14267479 14267479 G A rs144797886 ADGRL1 Synonymous SNV F1008F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.874 309423 chr19 1434836 1434836 C T rs763705584 DAZAP1 Synonymous SNV G210G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 309424 chr19 1453308 1453308 G A rs78476902 APC2 Synonymous SNV G68G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.879 309425 chr19 1462138 1462138 C A rs776638848 APC2 Synonymous SNV R604R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 309426 chr6 62526879 62526879 G A rs528188229 KHDRBS2 Nonsynonymous SNV T281M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.728 309427 chr5 53815413 53815413 G A rs199538676 SNX18 Stop gain W544X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 309428 chr16 69368820 69368820 G A rs72795277 COG8 Synonymous SNV G339G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.901 309429 chr1 230825879 230825879 T C rs1053337025 COG2 Synonymous SNV T637T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 309430 chr5 64511243 64511243 C T rs531111624 ADAMTS6 Nonsynonymous SNV V782I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 4.297 309431 chr19 16910891 16910891 C T rs760617643 NWD1 Synonymous SNV T1012T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 309432 chr18 29793451 29793451 A G rs370188648 MEP1B Nonsynonymous SNV D503G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 309433 chr16 7383044 7383044 G A rs750296080 RBFOX1 Synonymous SNV V14V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.858 309434 chr16 739350 739350 G A rs149299207 WDR24 Synonymous SNV G97G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.866 309435 chr5 74484448 74484448 A G rs763524792 ANKRD31 Synonymous SNV S478S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.058 309436 chr6 90556347 90556347 A G rs772039482 CASP8AP2 Synonymous SNV L13L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 309437 chr6 100841525 100841525 C T SIM1 Nonsynonymous SNV G470S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 309438 chr1 245849126 245849126 C T rs760707837 KIF26B Synonymous SNV F947F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.095 309439 chr19 18304112 18304112 C T rs772846545 MPV17L2 Synonymous SNV R7R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 309440 chr16 81253785 81253785 A G rs772816698 PKD1L2 Nonsynonymous SNV V64A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 309441 chr19 18468297 18468297 C T rs761978109 PGPEP1 Synonymous SNV P26P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 309442 chr1 247587329 247587329 C T rs76291085 NLRP3 Nonsynonymous SNV T195M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.01 309443 chr6 110300376 110300378 GCG - rs760613921 GPR6 A25del 0.001 0 0 0 1 0 0 0 0 0 0 0 309444 chr19 20735353 20735353 G C rs368041422 ZNF737 Nonsynonymous SNV L52V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.001 309445 chr16 84228006 84228006 C T rs1043817095 LOC654780 0 0.003 0 0 0 1 0 0 0 0 0 0 5.038 309446 chr16 10031881 10031881 G A rs145172949 GRIN2A Synonymous SNV P314P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.849 309447 chr16 10031884 10031884 G A rs146867324 GRIN2A Synonymous SNV I313I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.98 309448 chr19 2434072 2434072 C T rs577848864 LMNB2 Nonsynonymous SNV V412I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 309449 chr1 248185260 248185260 A G OR2L5 Nonsynonymous SNV Y4C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 309450 chr16 87678000 87678000 C T rs202182120 JPH3 Synonymous SNV N173N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.38 309451 chr6 132014704 132014704 C T rs762082474 ENPP3 Nonsynonymous SNV A451V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 309452 chr6 133846244 133846244 C T rs148180981 EYA4 Synonymous SNV A556A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 309453 chr1 26393914 26393914 A G TRIM63 Synonymous SNV P24P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.662 309454 chr18 72113897 72113897 G A rs563652633 DIPK1C Nonsynonymous SNV R274C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 309455 chr6 139694833 139694833 G A CITED2 Synonymous SNV P83P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.266 309456 chr19 3611788 3611788 A G CACTIN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.137 309457 chr6 144876008 144876008 C T rs78815593 UTRN Synonymous SNV T2371T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 309458 chr1 28800169 28800169 G A rs191655831 PHACTR4 Synonymous SNV E319E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.292 309459 chr1 28802709 28802709 G A rs528137108 PHACTR4 Synonymous SNV Q514Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.486 309460 chr6 148841012 148841012 G A rs149965187 SASH1 Nonsynonymous SNV G159R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 309461 chr19 36497437 36497437 G A rs767454410 SYNE4 Nonsynonymous SNV A139V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 309462 chr18 77894165 77894165 C T rs768882214 ADNP2 Nonsynonymous SNV P290L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.919 309463 chr16 89614511 89614511 C T rs56031686 SPG7 Synonymous SNV R551R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 20.4 309464 chr1 32552566 32552566 C T rs1046584886 MIR5585 0 0 0.003 0 0 0 0 1 0 0 0 0 0.367 309465 chr16 90030641 90030641 G A rs144387770 DEF8 Nonsynonymous SNV V296M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.5 309466 chr16 90094078 90094078 A G rs61734732 GAS8 Nonsynonymous SNV K13R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.62 309467 chr17 10212619 10212619 G C rs200612449 MYH13 Nonsynonymous SNV R1701G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 309468 chr6 155450455 155450455 G A rs758358565 TIAM2 Nonsynonymous SNV R33H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 309469 chr19 39229063 39229063 G A rs766087335 CAPN12 Synonymous SNV S295S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.507 309470 chr6 158342610 158342610 G A SNX9 Nonsynonymous SNV A333T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 309471 chr19 39907194 39907194 G A rs763411929 PLEKHG2 Nonsynonymous SNV E125K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 309472 chr19 407255 407255 G A C2CD4C Synonymous SNV P369P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.883 309473 chr18 21121296 21121296 A G rs200384578 NPC1 Synonymous SNV L783L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.269 309474 chr1 40961717 40961717 C T rs572985366 ZFP69 Stop gain R524X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 309475 chr1 43672540 43672540 C T rs143175489 CFAP57 Synonymous SNV P564P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 309476 chr17 17699383 17699383 G T rs943141889 RAI1 Nonsynonymous SNV A1041S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 309477 chr17 17997250 17997250 C T rs776497961 DRG2 Nonsynonymous SNV A63V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 309478 chr6 107360971 107360971 A G MTRES1 Nonsynonymous SNV M3V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.485 309479 chr17 181331 181331 G A rs533918404 LOC100506388 0 0.003 0 0 0 1 0 0 0 0 0 0 3.827 309480 chr1 47284427 47284427 C T rs371613738 CYP4B1 Nonsynonymous SNV R331C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 309481 chr1 52518221 52518221 C T rs74080700 TXNDC12-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.684 309482 chr1 53541538 53541538 C T rs138793768 PODN Nonsynonymous SNV T207I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 309483 chr18 19202734 19202734 C T rs536811949 SNRPD1 Synonymous SNV N21N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 309484 chr6 117710631 117710631 G A rs149258740 ROS1 Synonymous SNV I547I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.901 309485 chr19 44946780 44946780 A G rs894431536 ZNF229 Synonymous SNV I20I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.361 309486 chr17 26688242 26688242 C G rs782066320 TMEM199 Nonsynonymous SNV R199G 0 0.003 0 0 0 1 0 0 0 0 0 0 33 309487 chr17 27075976 27075976 C T rs141868310 TRAF4 Nonsynonymous SNV A265V 0 0.005 0 0 0 2 0 0 0 0 0 0 20.6 309488 chr7 6185210 6185210 A G rs370313212 USP42 Nonsynonymous SNV I352V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 309489 chr6 128303989 128303989 T A rs144386522 PTPRK Nonsynonymous SNV K1174M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 309490 chr19 4555541 4555541 G A rs146414829 SEMA6B Synonymous SNV S169S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Likely benign 5.338 309491 chr7 7457499 7457500 CT - COL28A1 Q709Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 309492 chr19 15540562 15540562 G A WIZ Nonsynonymous SNV H163Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.696 309493 chr6 133004446 133004446 G A rs771671482 VNN1 Nonsynonymous SNV R459C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 309494 chr6 137219306 137219306 C T PEX7 Nonsynonymous SNV S277F 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 309495 chr1 67160132 67160132 C T rs371206061 SGIP1 Synonymous SNV D328D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.481 309496 chr18 47794013 47794013 T G MBD1 Nonsynonymous SNV D362A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.794 309497 chr18 55027466 55027466 T C ST8SIA3 Synonymous SNV H367H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 309498 chr5 179252184 179252184 A G rs11548633 SQSTM1 Nonsynonymous SNV K238E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.4 309499 chr6 151775695 151775695 T A rs771602243 ARMT1 Stop gain Y18X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 309500 chr18 59772819 59772819 G C rs776011686 PIGN Nonsynonymous SNV P606A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.4 309501 chr19 50028734 50028734 G T rs34522905 FCGRT Nonsynonymous SNV V298L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.426 309502 chr19 50340166 50340166 G A rs767118345 MED25 Nonsynonymous SNV V737I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 309503 chr17 38519716 38519716 G A GJD3 Nonsynonymous SNV P118S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.686 309504 chr19 50412687 50412687 C T rs61741016 NUP62 Synonymous SNV S126S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.3 309505 chr6 157100396 157100396 - CGCCGCCGC ARID1B P450_S451insPPP 0 0 0 1 0 0 0.003 0 0 0 0 0 309506 chr7 44797585 44797585 C T rs768411556 ZMIZ2 Nonsynonymous SNV P231S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 309507 chr19 51671446 51671446 A G rs200451065 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.365 309508 chr7 47970757 47970757 G A PKD1L1 Synonymous SNV T227T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.805 309509 chr1 98511733 98511733 - CCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTACCGCTGCCGCTGCTA MIR137HG 0 0 0.007 0 0 0 0 2 0 0 1 0 309510 chr19 52195974 52195974 C G rs533580789 SPACA6P-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 0.924 309511 chr6 26056464 26056464 C T rs138308559 H1-2 Nonsynonymous SNV A65T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 309512 chr7 1015141 1015141 G A rs370650176 COX19 Nonsynonymous SNV S2L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 309513 chr19 52793713 52793713 C T rs12462656 ZNF766 Synonymous SNV T223T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.36 309514 chr19 52877676 52877676 C T rs375204197 ZNF880 Synonymous SNV N88N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 309515 chr7 65548113 65548113 C T rs748203708 ASL Nonsynonymous SNV S133L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.755 309516 chr7 82583974 82583974 C T rs748018357 PCLO Nonsynonymous SNV D2099N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 309517 chr7 6590869 6590869 G A GRID2IP Nonsynonymous SNV R67C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 309518 chr7 6590878 6590878 G T GRID2IP Nonsynonymous SNV R64S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.9 309519 chr17 42267918 42267918 C T TMUB2 Nonsynonymous SNV R198C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 309520 chr20 25657479 25657479 C T rs752042447 ZNF337 Nonsynonymous SNV V149I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 309521 chr7 45120479 45120484 TCCTCC - NACAD E1516_E1517del 0.001 0 0 0 1 0 0 0 0 0 0 0 309522 chr7 99701060 99701060 C T rs147261925 AP4M1 Nonsynonymous SNV T134M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.5 309523 chr19 55672543 55672543 C T DNAAF3 Nonsynonymous SNV V336M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 309524 chr20 31671577 31671577 G A rs56408311 BPIFB4 Nonsynonymous SNV G192S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 309525 chr7 100457665 100457665 G C rs751727205 SLC12A9 0.001 0 0 0 1 0 0 0 0 0 0 0 26 309526 chr19 1466601 1466601 G A rs758912942 APC2 Nonsynonymous SNV E1100K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 309527 chr20 35234423 35234423 C T rs1034404861 RAB5IF Synonymous SNV S23S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.05 309528 chr20 37055953 37055953 G A SNORA71A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.664 309529 chr20 3736225 3736225 A C C20orf27 Stop gain Y89X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 309530 chr20 42143699 42143699 G A rs772930755 L3MBTL1 Nonsynonymous SNV D95N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 309531 chr17 5336666 5336666 C T rs144122314 C1QBP Nonsynonymous SNV E216K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.02 309532 chr19 16688306 16688306 C T rs375797169 MED26 Nonsynonymous SNV R112Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 309533 chr20 44463012 44463012 G A SNX21 Nonsynonymous SNV S65N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 309534 chr20 44578205 44578205 C T rs993156025 ZNF335 Synonymous SNV V1224V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 309535 chr20 44596379 44596379 G A rs145110365 ZNF335 Nonsynonymous SNV R270C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 309536 chr20 45170420 45170420 G C OCSTAMP Synonymous SNV R398R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.221 309537 chr20 48522561 48522561 G A rs142896893 SPATA2 Synonymous SNV C386C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.485 309538 chr20 50769618 50769618 G C rs776947194 ZFP64 Nonsynonymous SNV F317L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 309539 chr19 18249835 18249835 A T rs774959544 MAST3 Nonsynonymous SNV E673D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 309540 chr7 100884120 100884120 G A rs752027618 FIS1 Synonymous SNV Y82Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 309541 chr19 691881 691881 C T rs564128241 PRSS57 Nonsynonymous SNV A119T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.125 309542 chr19 7590031 7590031 G A rs369176493 MCOLN1 Synonymous SNV K72K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.21 309543 chr19 7620575 7620575 T G rs775899903 PNPLA6 Nonsynonymous SNV S1007A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.818 309544 chr20 58519912 58519912 G A rs752289032 FAM217B Nonsynonymous SNV R148H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.08 309545 chr19 2046403 2046403 G A rs34916924 MKNK2 Synonymous SNV R68R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.12 309546 chr19 7999073 7999073 G A rs149061456 TIMM44 Synonymous SNV G148G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.759 309547 chr7 100482630 100482630 C T rs138346691 SRRT Synonymous SNV S376S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 309548 chr7 116339842 116339842 T C rs1060503530 MET Nonsynonymous SNV I235T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 309549 chr7 81336624 81336624 C T rs771437724 HGF Nonsynonymous SNV R533Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 309550 chr7 87005024 87005024 C T rs139049409 CROT Stop gain R245X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 309551 chr7 128485284 128485284 C A rs556428588 FLNC Synonymous SNV V1255V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.48 309552 chr7 128506771 128506771 T G rs760127538 ATP6V1FNB Nonsynonymous SNV I103S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 309553 chr19 308631 308631 C T rs202163232 MIER2 Nonsynonymous SNV D346N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 309554 chr7 94993335 94993335 C T rs758914793 PON3 Nonsynonymous SNV A179T 0 0 0 1 0 0 0.003 0 0 0 0 0 34 309555 chr19 33349381 33349381 G A rs150439306 SLC7A9 Synonymous SNV I314I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 309556 chr7 138239539 138239539 C T TRIM24 Nonsynonymous SNV S453L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 309557 chr6 111887753 111887753 A G TRAF3IP2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 309558 chr20 6758939 6758939 T C BMP2 Nonsynonymous SNV F132L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 309559 chr19 35786685 35786685 G C rs200631477 MAG Synonymous SNV V47V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.144 309560 chr19 992034 992034 C T rs200112941 WDR18 Synonymous SNV P337P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 309561 chr21 33651174 33651174 A G MIS18A Nonsynonymous SNV M51T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 19.83 309562 chr6 128410935 128410935 G A rs61757810 PTPRK Synonymous SNV N326N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.776 309563 chr6 128505806 128505806 T C rs7768121 PTPRK Synonymous SNV Q182Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.01 309564 chr6 130387535 130387535 A G rs760846056 L3MBTL3 Nonsynonymous SNV Y276C 0.002 0 0 0 2 0 0 0 0 0 0 0 28.4 309565 chr17 74473023 74473023 C T rs146134173 RHBDF2 Nonsynonymous SNV R335Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 26.7 309566 chr21 38444738 38444738 G T rs143586399 PIGP Synonymous SNV G50G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.527 309567 chr7 150731472 150731472 C T rs147682687 ABCB8 Nonsynonymous SNV S86F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.76 309568 chr7 117825708 117825708 G C LSM8 Nonsynonymous SNV R11P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 309569 chr17 76972105 76972105 G C LGALS3BP Nonsynonymous SNV C62W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.2 309570 chr7 100680296 100680296 A C rs201970250 MUC17 Nonsynonymous SNV T1867P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 6.664 309571 chr19 42794540 42794540 T C rs751301133 CIC Synonymous SNV A540A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 309572 chr19 39016094 39016094 G A rs368360689 RYR1 Synonymous SNV A3521A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.74 309573 chr7 102733014 102733014 A T rs748925242 ARMC10 Nonsynonymous SNV T172S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 309574 chr7 102760373 102760373 C T NAPEPLD Nonsynonymous SNV A198T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 309575 chr19 44352367 44352367 A - rs762712255 ZNF283 E401Rfs*47 0.001 0 0 0 1 0 0 0 0 0 0 0 309576 chr1 11907188 11907188 C G NPPA Synonymous SNV L144L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 309577 chr19 40095861 40095861 G A rs149096926 LGALS13 Nonsynonymous SNV E46K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 309578 chr1 1277118 1277118 C T rs777195356 DVL1 Synonymous SNV A178A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.41 309579 chr7 122635224 122635224 G A rs148513430 TAS2R16 Synonymous SNV L155L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.594 309580 chr21 47817944 47817944 G T rs764948991 PCNT Nonsynonymous SNV R1370L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 309581 chr7 141362459 141362459 C A DENND11 Synonymous SNV P455P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 309582 chr17 80047034 80047034 C T rs200173875 FASN Synonymous SNV P705P 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 309583 chr8 14095178 14095178 A G rs774988182 SGCZ Nonsynonymous SNV L82P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 309584 chr1 150525587 150525587 C T rs148393631 ADAMTSL4 Nonsynonymous SNV R98W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 309585 chr1 150971935 150971935 G A rs374995576 MINDY1 Synonymous SNV H155H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 309586 chr8 17804804 17804804 G T rs762038136 PCM1 Nonsynonymous SNV G298V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 309587 chr22 19006099 19006099 G A DGCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 2.474 309588 chr19 42914880 42914880 C T rs112497256 LIPE Nonsynonymous SNV R333Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.9 309589 chr7 132192613 132192613 G A rs768862717 PLXNA4 Synonymous SNV L280L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.044 309590 chr22 19467510 19467510 C G rs147730653 CDC45 Nonsynonymous SNV R7G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.7 309591 chr22 19711522 19711522 C T rs761696333 GP1BB Synonymous SNV A52A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 309592 chr7 143208718 143208718 T C rs114343832 OR10AC1 Nonsynonymous SNV I96V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 309593 chr8 20112470 20112470 G A rs144864312 LZTS1 Nonsynonymous SNV R75W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 309594 chr7 552013 552013 C T rs368474837 PDGFA Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.395 309595 chr7 144094555 144094555 G T rs191595863 NOBOX Synonymous SNV P618P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.34 309596 chr7 1785336 1785336 G A rs908694603 ELFN1 Synonymous SNV L368L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 309597 chr1 153784322 153784322 A G GATAD2B Synonymous SNV A511A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 309598 chr1 153907342 153907342 C T DENND4B Synonymous SNV Q900Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 309599 chr1 154530746 154530746 C T rs200884226 UBE2Q1 Nonsynonymous SNV G95E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 309600 chr7 2984091 2984091 G A rs760689603 CARD11 Synonymous SNV L147L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.68 309601 chr19 44610768 44610768 G T ZNF224 Nonsynonymous SNV G152V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.857 309602 chr18 21479357 21479357 G A rs139393175 LAMA3 Nonsynonymous SNV R372Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24 309603 chr1 155313190 155313190 T C rs766749755 ASH1L Synonymous SNV L2741L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.861 309604 chr8 26721610 26721610 G A rs148938279 ADRA1A Nonsynonymous SNV P293S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 309605 chr1 155735475 155735475 C G rs675918 GON4L Synonymous SNV P1263P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.548 309606 chr22 28194270 28194270 C T MN1 Synonymous SNV Q754Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.214 309607 chr1 156639628 156639628 C T rs377104907 NES Nonsynonymous SNV S1451N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.419 309608 chr22 31998263 31998263 G A rs199950171 SFI1 Nonsynonymous SNV R482H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 309609 chr19 46198849 46198849 A T rs1039203783 QPCTL Nonsynonymous SNV Y169F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 309610 chr19 46257770 46257770 C G rs992101905 BHMG1 Nonsynonymous SNV S197C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 309611 chr22 35661227 35661227 T C rs141856411 HMGXB4 Synonymous SNV L173L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.02 309612 chr18 44101120 44101120 G A rs758375382 LOXHD1 Synonymous SNV D530D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 1.086 309613 chr18 45566903 45566903 T C rs114461217 ZBTB7C Synonymous SNV T192T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.03 309614 chr1 160125870 160125870 C T rs374886500 ATP1A4 Synonymous SNV I149I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 309615 chr7 27135338 27135338 T G rs146782650 HOXA1 Nonsynonymous SNV H65P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.99 309616 chr22 37904633 37904633 C T CARD10 Synonymous SNV E322E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 309617 chr1 16070829 16070829 C T rs182297483 TMEM82 Nonsynonymous SNV H171Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 309618 chr8 68419077 68419077 C T rs201589247 CPA6 Nonsynonymous SNV G194D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 309619 chr19 48646834 48646834 G A rs765401609 LIG1 Nonsynonymous SNV R226W 0.001 0.003 0 1 1 1 0.003 0 0 0 0 0 35 309620 chr19 49001789 49001789 C G rs756439666 LMTK3 Nonsynonymous SNV G875A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.348 309621 chr18 56936699 56936699 C G RAX Nonsynonymous SNV R193P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 309622 chr18 61151758 61151758 A G SERPINB5 Nonsynonymous SNV I33V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.5 309623 chr8 8235031 8235031 C T rs202099106 PRAG1 Synonymous SNV G296G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.42 309624 chr17 55074359 55074359 A G rs752237385 SCPEP1 Nonsynonymous SNV K275E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.22 309625 chr8 105405104 105405104 C T rs377661574 DPYS Nonsynonymous SNV G451R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 309626 chr19 50140308 50140308 C T RRAS Nonsynonymous SNV R78Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 309627 chr1 17316498 17316498 C A rs746533808 ATP13A2 Nonsynonymous SNV D800Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.58 309628 chr1 173907924 173907924 G C rs769322123 RC3H1 Nonsynonymous SNV P1114A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.333 309629 chr8 18079755 18079755 T A NAT1 Nonsynonymous SNV W67R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 309630 chr2 101183019 101183019 C T rs115241531 PDCL3 Nonsynonymous SNV P21S 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 26.7 309631 chr18 9281097 9281097 C T rs764620935 ANKRD12 Synonymous SNV N2031N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 309632 chr2 102504275 102504275 C T rs371995247 MAP4K4 Synonymous SNV I1124I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.92 309633 chr1 185171883 185171883 A G rs745704622 SWT1 Nonsynonymous SNV T541A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.3 309634 chr1 186113709 186113709 G A rs770936849 HMCN1 Nonsynonymous SNV V4714M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 309635 chr19 52716315 52716315 A G rs765519305 PPP2R1A Synonymous SNV E74E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.318 309636 chr8 144332535 144332535 G A rs374696847 ZFP41 Synonymous SNV T174T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.285 309637 chr19 11200206 11200206 C T LDLR-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.707 309638 chr19 53668563 53668563 T C rs761620520 ZNF665 Nonsynonymous SNV I394V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.23 309639 chr1 201163305 201163305 C A rs189690117 IGFN1 Nonsynonymous SNV P11T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.8 309640 chr1 201163306 201163306 C G rs41313898 IGFN1 Nonsynonymous SNV P11R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 22.5 309641 chr2 135119909 135119909 T C rs148183644 MGAT5 Nonsynonymous SNV I437T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 309642 chr7 100200049 100200049 T C PCOLCE-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 7.054 309643 chr1 203452996 203452996 G A rs139420607 PRELP Synonymous SNV L228L 0 0 0.007 0 0 0 0 2 0 0 0 0 4.265 309644 chr17 73564639 73564639 G A rs139947606 LLGL2 Synonymous SNV P373P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.34 309645 chr8 105436573 105436573 G T rs201258823 DPYS Nonsynonymous SNV S379R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 28.8 309646 chr1 205028396 205028396 T C CNTN2 Synonymous SNV F224F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.896 309647 chr19 55752998 55752998 G A rs116464914 PPP6R1 Synonymous SNV S285S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 309648 chr1 205495273 205495273 C T rs138491552 CDK18 Synonymous SNV H179H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.15 309649 chr19 15483962 15483962 C T AKAP8 Nonsynonymous SNV M187I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.7 309650 chr2 153378477 153378477 T C rs777140418 FMNL2 Synonymous SNV P46P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.921 309651 chr2 155302332 155302332 A - rs757692169 LOC100144595 0 0 0.003 0 0 0 0 1 0 0 0 0 309652 chr2 158181984 158181984 A T ERMN Nonsynonymous SNV S57R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 309653 chr1 206809083 206809083 A T rs201944049 DYRK3 Nonsynonymous SNV D12V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 309654 chr1 206809085 206809085 G T DYRK3 Nonsynonymous SNV A13S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.69 309655 chr1 206809086 206809086 C T rs868948854 DYRK3 Nonsynonymous SNV A13V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 309656 chr1 207086334 207086334 G A rs141485983 FCMR Nonsynonymous SNV H31Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 309657 chr1 207224297 207224297 C G rs541136434 YOD1 Nonsynonymous SNV A27P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 309658 chr2 160289312 160289314 TCT - rs771145950 BAZ2B E555del 0 0 0.003 0 0 0 0 1 0 0 0 0 309659 chr8 124664188 124664188 C T rs775038532 KLHL38 Nonsynonymous SNV A327T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.449 309660 chr19 6380990 6380990 G A rs143977043 GTF2F1 Nonsynonymous SNV R386C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 309661 chr19 56423928 56423929 AG - rs769359952 NLRP13 F419Sfs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 309662 chr1 210536249 210536249 G A rs141591165 HHAT Nonsynonymous SNV G50R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.29 309663 chr1 212798251 212798251 C T rs139614117 FAM71A Nonsynonymous SNV T11M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 309664 chr2 170897406 170897408 AAC - UBR3 Q1526del 0 0 0.003 0 0 0 0 1 0 0 0 0 309665 chr1 11591695 11591695 G A rs537868581 DISP3 Synonymous SNV P1101P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 309666 chr1 116675847 116675847 A T rs781075708 MAB21L3 Nonsynonymous SNV K317M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 309667 chr9 25678093 25678093 A G rs778823005 TUSC1 Nonsynonymous SNV I76T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 309668 chr19 57967291 57967291 T C VN1R1 Synonymous SNV L188L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 309669 chr19 5828069 5828069 G A rs759546021 NRTN Nonsynonymous SNV R160H 0.001 0 0 0 1 0 0 0 0 0 0 0 30 309670 chr19 18304135 18304135 C T rs375137582 MPV17L2 Nonsynonymous SNV A15V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.52 309671 chr1 118581917 118581917 G A rs573321066 SPAG17 Nonsynonymous SNV T1106M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.378 309672 chr9 34382774 34382774 G C rs761780791 C9orf24 Nonsynonymous SNV T125S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 309673 chr9 35400422 35400422 C T rs150259776 UNC13B Nonsynonymous SNV R1037C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 309674 chr19 58981097 58981104 CTCTCCAC - ZNF324 R46Cfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 309675 chr19 18886477 18886477 C T rs140134062 CRTC1 Synonymous SNV N513N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.6 309676 chr19 19765945 19765945 G A rs62000421 ATP13A1 Synonymous SNV R546R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.442 309677 chr9 72459529 72459529 C T rs199516909 C9orf135 Synonymous SNV T83T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 309678 chr7 123336722 123336722 G A rs78688359 WASL Synonymous SNV N180N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.337 309679 chr19 23926562 23926562 T C ZNF681 Nonsynonymous SNV K597R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 309680 chr19 24289418 24289418 C T rs199638947 ZNF254 Stop gain R3X 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 309681 chr2 196659135 196659135 C T rs754467112 DNAH7 Nonsynonymous SNV R3548Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 309682 chr17 80788899 80788899 C T rs76229161 ZNF750 Nonsynonymous SNV V478I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 9.124 309683 chr17 80789086 80789086 C A ZNF750 Synonymous SNV P415P 0 0 0 1 0 0 0.003 0 0 0 0 0 17.89 309684 chr19 2878135 2878135 T C rs111874967 ZNF556 Synonymous SNV T392T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.05 309685 chr2 197157432 197157432 T A rs748109589 HECW2 Nonsynonymous SNV M597L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 309686 chr1 232943775 232943775 C T rs147903928 MAP10 Synonymous SNV S1002S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 309687 chr9 2837223 2837224 TT - rs761455594 PUM3 K87Ifs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 309688 chr1 234596048 234596048 T C rs778918155 TARBP1 Synonymous SNV P498P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.769 309689 chr1 235667510 235667510 C T rs997345764 B3GALNT2 Nonsynonymous SNV A15T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 309690 chr7 138874174 138874174 T C rs375730344 TTC26 Nonsynonymous SNV I423T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 309691 chr2 207169489 207169489 G A rs766814620 ZDBF2 Synonymous SNV V79V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.859 309692 chr2 207827135 207827135 G A CPO 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 309693 chr7 141373943 141373943 C A DENND11 Nonsynonymous SNV G202V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 309694 chr19 3546381 3546381 C T rs200989641 MFSD12 Nonsynonymous SNV A347T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.73 309695 chr9 15451355 15451355 C T rs980442614 SNAPC3 Nonsynonymous SNV T207I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 309696 chr19 9049473 9049473 T C rs991010919 MUC16 Nonsynonymous SNV T10720A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 309697 chr19 9057070 9057070 G T MUC16 Nonsynonymous SNV P10126T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 309698 chr2 211019111 211019111 T C KANSL1L Nonsynonymous SNV K66E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 309699 chr2 211019124 211019124 A C KANSL1L Nonsynonymous SNV N61K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 309700 chr9 5185557 5185557 G C rs137949046 INSL6 Nonsynonymous SNV L16V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.98 309701 chr9 5920115 5920115 T G rs760272657 KIAA2026 Synonymous SNV R1961R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 309702 chr9 6015475 6015475 G C rs768510899 RANBP6 Nonsynonymous SNV P45A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.32 309703 chr9 7165355 7165355 C A rs1032731803 KDM4C Nonsynonymous SNV Q712K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 309704 chr9 33354162 33354162 C G rs201729674 NFX1 Synonymous SNV T937T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 309705 chr9 33923016 33923016 G A UBAP2 Nonsynonymous SNV S246L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 309706 chr2 218712449 218712449 T G rs141901890 TNS1 Nonsynonymous SNV N806H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.043 309707 chr1 247588351 247588351 C T rs116054301 NLRP3 Synonymous SNV L536L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.41 309708 chr1 158590009 158590009 G A SPTA1 Nonsynonymous SNV T2123I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 309709 chr2 219874113 219874113 C T rs377741306 CFAP65 Nonsynonymous SNV A1508T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 309710 chr19 3770923 3770923 C T rs573043030 RAX2 Nonsynonymous SNV R130H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 309711 chr9 34125203 34125203 T G rs138819167 DCAF12 Nonsynonymous SNV K51Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 309712 chr19 38385038 38385038 T C rs986782344 WDR87 Synonymous SNV V435V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.557 309713 chr1 10434479 10434479 C T rs763518005 KIF1B Synonymous SNV N1638N 0.002 0 0 0 2 0 0 0 0 0 0 0 15.86 309714 chr9 124967031 124967031 C T rs776544019 LHX6 Synonymous SNV P332P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 309715 chr2 220471232 220471232 A G rs753653927 STK11IP Nonsynonymous SNV D327G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 309716 chr7 158449004 158449004 G C rs765364216 NCAPG2 Nonsynonymous SNV S779C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 309717 chr8 400056 400056 A C rs764111651 FBXO25 Nonsynonymous SNV N83H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 309718 chr19 39915777 39915777 A G rs574448593 PLEKHG2 Nonsynonymous SNV Y1335C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 309719 chr1 27673957 27673957 G A rs781180842 SYTL1 Synonymous SNV L79L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 309720 chr1 28893889 28893889 C T TRNAU1AP Nonsynonymous SNV S165F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 309721 chr1 32673319 32673319 A G rs373454952 IQCC Nonsynonymous SNV Y426C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 309722 chr19 42910323 42910323 G A rs374003849 LIPE Synonymous SNV S785S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.68 309723 chr1 32950774 32950774 C T ZBTB8B Synonymous SNV L415L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 309724 chr19 43013342 43013342 G A rs148127433 CEACAM1 Synonymous SNV A404A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.597 309725 chr9 91616934 91616934 G A rs767938068 S1PR3 Synonymous SNV A273A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.39 309726 chr1 33237738 33237738 C T rs368343727 KIAA1522 Synonymous SNV P927P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 309727 chr19 44224101 44224102 AA - rs749146094 IRGC *464* 0 0.003 0 0 0 1 0 0 0 0 0 0 309728 chr9 107288714 107288714 A C rs117962427 OR13C4 Stop gain Y259X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 309729 chr9 107288732 107288732 A G rs78740063 OR13C4 Synonymous SNV G253G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.229 309730 chr9 96060221 96060221 C G rs142375182 WNK2 Nonsynonymous SNV P1932R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 25.3 309731 chr1 37941299 37941299 G A rs376883628 ZC3H12A Nonsynonymous SNV V68I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.84 309732 chr1 38027720 38027720 G C DNALI1 Nonsynonymous SNV R205S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 309733 chr9 134405892 134405892 C T rs138446238 UCK1 Synonymous SNV Q83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 309734 chr19 44739707 44739707 C T ZNF227 Nonsynonymous SNV T296I 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 309735 chr1 12378289 12378289 G A rs747474069 VPS13D Nonsynonymous SNV E2437K 0.002 0 0 0 2 0 0 0 0 0 0 0 19.62 309736 chr9 135522438 135522438 C T rs568569904 DDX31 Synonymous SNV T430T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 309737 chr9 135554486 135554486 A G rs780605582 GTF3C4 Nonsynonymous SNV T494A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 309738 chr9 136030582 136030582 C T rs200022661 GBGT1 Synonymous SNV T97T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 309739 chr2 241991818 241991818 C T rs776621352 SNED1 Synonymous SNV C672C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 309740 chr19 4512340 4512340 G A rs368014160 PLIN4 Synonymous SNV N544N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.662 309741 chr9 107332410 107332410 G A rs137950112 OR13C8 Synonymous SNV X321X 0 0 0 2 0 0 0.005 0 0 0 0 0 8.865 309742 chr2 242945569 242945569 C T rs187901209 LOC285097 0 0 0.007 0 0 0 0 2 0 0 0 0 2.313 309743 chr2 24905840 24905840 T C rs376278973 NCOA1 Synonymous SNV F125F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.08 309744 chr1 150482609 150482609 C T ECM1 Synonymous SNV P139P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.449 309745 chr1 150921652 150921652 C G SETDB1 Nonsynonymous SNV T441S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 309746 chr1 47882475 47882475 G A rs753594600 FOXE3 Nonsynonymous SNV R163H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 309747 chr2 28248261 28248261 A G rs202064486 BABAM2 Nonsynonymous SNV I157V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.452 309748 chr1 53535493 53535493 C G rs41313375 PODN Nonsynonymous SNV P37R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 309749 chr8 41563720 41563720 G C ANK1 Nonsynonymous SNV H680D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 309750 chr1 54273449 54273449 T C rs542128217 NDC1 Synonymous SNV P217P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.282 309751 chr1 55059699 55059699 G A rs768581245 ACOT11 Nonsynonymous SNV R153Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 309752 chr2 32477621 32477621 G A rs200374202 NLRC4 Synonymous SNV C43C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.635 309753 chr1 154437774 154437774 C G IL6R Nonsynonymous SNV T442S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 309754 chr2 33525616 33525616 T C LTBP1 Nonsynonymous SNV S786P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 309755 chr9 123177393 123177393 G C rs151259479 CDK5RAP2 Nonsynonymous SNV R1178G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 309756 chr2 37336399 37336399 C T rs747429747 EIF2AK2 Nonsynonymous SNV A432T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 309757 chr1 156351621 156351621 G C rs772459487 RHBG Nonsynonymous SNV A289P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 309758 chr1 62747224 62747224 C A KANK4 Nonsynonymous SNV D5Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 309759 chr19 49622104 49622104 G A rs753275210 C19orf73 Nonsynonymous SNV P59L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 309760 chr9 125936091 125936091 T C rs191747846 STRBP Synonymous SNV V71V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.609 309761 chr2 45233401 45233401 C T rs766312512 SIX2 Nonsynonymous SNV G262R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 309762 chr8 92346576 92346576 T G SLC26A7 Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.105 309763 chr1 71512404 71512404 C G rs757460013 PTGER3 Nonsynonymous SNV G286A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 309764 chr2 54570995 54570995 C T rs147443404 C2orf73 Nonsynonymous SNV P4S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 309765 chr1 78329652 78329652 C T rs769311114 MIGA1 Nonsynonymous SNV P483L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 309766 chr2 61575094 61575094 C G rs780995035 USP34 Nonsynonymous SNV E732D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 309767 chr10 18787293 18787293 G C rs747480172 CACNB2 Nonsynonymous SNV V60L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 309768 chr19 51983880 51983880 C T rs1048531686 CEACAM18 Nonsynonymous SNV R116W 0 0.003 0 0 0 1 0 0 0 0 0 0 9.547 309769 chr10 27035399 27035399 A G rs755121257 PDSS1 Synonymous SNV K245K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.824 309770 chr9 136501499 136501499 C T rs199920333 DBH Synonymous SNV P2P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.873 309771 chr8 121209041 121209041 G C rs61729463 COL14A1 Nonsynonymous SNV V150L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.474 309772 chr2 72723626 72723626 T G EXOC6B Nonsynonymous SNV K354T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 309773 chr8 121259922 121259922 C T rs61738288 COL14A1 Synonymous SNV D850D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.973 309774 chr1 89426921 89426921 T C KYAT3 Nonsynonymous SNV Y205C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 309775 chr19 5223189 5223189 G A rs151114416 PTPRS Nonsynonymous SNV R850C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 309776 chr2 79971603 79971603 G T CTNNA2 Stop gain E65X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 309777 chr2 85617944 85617944 G A rs775265084 ELMOD3 Synonymous SNV L335L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 309778 chr19 52658694 52658694 T C rs764092831 ZNF836 Nonsynonymous SNV M748V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 309779 chr10 33224471 33224471 T C rs145491875 ITGB1 Nonsynonymous SNV I6V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.005 309780 chr1 93170225 93170225 T G rs201333917 EVI5 Nonsynonymous SNV S120R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 309781 chr20 14307064 14307064 G A rs770506040 FLRT3 Synonymous SNV T363T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.868 309782 chr1 17674492 17674492 C T rs372520947 PADI4 Synonymous SNV F368F 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 309783 chr19 54973479 54973479 C T rs767845301 LENG9 Nonsynonymous SNV E433K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 309784 chr1 226049935 226049937 CTC - rs753498160 TMEM63A E356del 0.001 0 0 0 1 0 0 0 0 0 0 0 309785 chr3 118945823 118945823 T C B4GALT4 Nonsynonymous SNV K107E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 309786 chr19 55526354 55526354 G A rs746907519 GP6 Nonsynonymous SNV R301W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 309787 chr1 228003914 228003914 A G rs750198324 PRSS38 Nonsynonymous SNV N91S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.558 309788 chr10 5790182 5790182 A G TASOR2 Nonsynonymous SNV I1519V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.003 309789 chr20 25190542 25190542 A G ENTPD6 Nonsynonymous SNV Y128C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 309790 chr10 7762886 7762886 A G rs370966402 ITIH2 Nonsynonymous SNV H233R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.74 309791 chr3 122437287 122437287 G A PARP14 Nonsynonymous SNV R1430Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 309792 chr19 56028731 56028731 C G SSC5D Nonsynonymous SNV L1030V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.252 309793 chr20 33874705 33874705 C T rs148482634 FAM83C Nonsynonymous SNV R626Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 309794 chr20 34164113 34164113 G A rs762704464 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 309795 chr20 34220455 34220455 T C rs141465480 CPNE1 Nonsynonymous SNV E98G 0 0 0.003 0 0 0 0 1 0 0 0 0 25 309796 chr3 129188192 129188192 C T rs373212863 IFT122 Nonsynonymous SNV R139C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 309797 chr3 130107806 130107806 A G rs913369582 COL6A5 Nonsynonymous SNV R749G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.117 309798 chr10 81927065 81927065 C T rs569546089 ANXA11 Nonsynonymous SNV G189E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 309799 chr20 40079642 40079642 G A rs41278124 CHD6 Synonymous SNV P1209P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.33 309800 chr1 200842790 200842790 C G rs751637010 GPR25 Nonsynonymous SNV L209V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 309801 chr9 17502583 17502583 T C rs763638872 CNTLN Nonsynonymous SNV L1384P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 309802 chr1 201750284 201750284 C T rs759284972 NAV1 Nonsynonymous SNV R113W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 309803 chr1 214542934 214542934 G C rs61749333 PTPN14 Nonsynonymous SNV T1046R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 309804 chr19 6044264 6044264 A G rs142846243 RFX2 Synonymous SNV N40N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.588 309805 chr19 610393 610393 G T rs761793254 HCN2 Synonymous SNV G524G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.23 309806 chr1 216371667 216371667 C T rs745962568 USH2A Synonymous SNV T1357T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.64 309807 chr1 216420440 216420440 A G rs368687374 USH2A Nonsynonymous SNV C766R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 309808 chr19 6730348 6730348 G A rs936353765 GPR108 Nonsynonymous SNV T536I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 309809 chr3 15609945 15609945 C T rs756546304 HACL1 Nonsynonymous SNV R333H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 309810 chr3 158315933 158315933 A G MLF1 Nonsynonymous SNV K70R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 309811 chr19 746350 746350 G A rs137941376 PALM Nonsynonymous SNV E190K 0 0.003 0 0 0 1 0 0 0 0 0 0 32 309812 chr10 104816568 104816568 C T rs776447790 CNNM2 Synonymous SNV S640S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 309813 chr10 105233390 105233390 G A CALHM3 Synonymous SNV F205F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 309814 chr3 183952997 183952997 G A rs184105636 VWA5B2 Synonymous SNV A115A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 309815 chr19 8670536 8670536 G A rs782011256 ADAMTS10 Synonymous SNV F20F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 309816 chr20 61303141 61303141 T C SLCO4A1 Nonsynonymous SNV Y689H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.44 309817 chr10 70515253 70515253 A G CCAR1 Nonsynonymous SNV K514E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 309818 chr10 113935432 113935432 A C rs746168949 GPAM Synonymous SNV L113L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 309819 chr9 98766860 98766860 C T rs144663865 ERCC6L2 Nonsynonymous SNV P1195L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.833 309820 chr9 100111479 100111479 C G rs199966530 CCDC180 Nonsynonymous SNV Q965E 0.002 0 0 0 2 0 0 0 0 0 0 0 6.665 309821 chr9 101751495 101751495 C T rs780775882 COL15A1 Synonymous SNV D253D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 309822 chr3 194080380 194080380 T C LRRC15 Nonsynonymous SNV I465V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 309823 chr3 195254670 195254670 - T PPP1R2 Frameshift insertion R20Kfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 309824 chr1 223178226 223178226 A G rs61743732 DISP1 Nonsynonymous SNV S1163G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 309825 chr1 32162601 32162601 G A rs758033966 COL16A1 Nonsynonymous SNV T276I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 309826 chr1 223285042 223285042 G A rs5744169 TLR5 Synonymous SNV L444L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.228 309827 chr3 197408146 197408146 C A rs201413387 RUBCN Nonsynonymous SNV V762F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 309828 chr21 30254532 30254532 C G rs763398647 N6AMT1 Nonsynonymous SNV E88Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 309829 chr21 30257570 30257570 A G N6AMT1 Nonsynonymous SNV L33S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 309830 chr10 125771914 125771914 C T rs367705392 CHST15 Nonsynonymous SNV R477H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 309831 chr3 3179115 3179115 A G rs764696586 TRNT1 Nonsynonymous SNV K107R 0 0 0.007 0 0 0 0 2 0 0 0 0 20.8 309832 chr10 94397060 94397060 C T rs772728194 KIF11 Synonymous SNV A665A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.09 309833 chr10 95276905 95276905 G A rs141349756 CEP55 Nonsynonymous SNV R298K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.26 309834 chr3 36888760 36888760 A G rs749085862 TRANK1 Synonymous SNV V1611V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.893 309835 chr10 95660618 95660618 G A rs146445321 SLC35G1 Nonsynonymous SNV A157T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 309836 chr10 99327673 99327673 C T rs144753553 UBTD1 Nonsynonymous SNV R25C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 309837 chr10 135369541 135369541 C T rs769135037 SYCE1 Nonsynonymous SNV R180Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.296 309838 chr9 125391523 125391523 G A rs140947515 OR1B1 Nonsynonymous SNV R98C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 309839 chr1 11561785 11561785 C G rs754660667 DISP3 Nonsynonymous SNV Q246E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 309840 chr3 44843263 44843263 A T KIF15 Nonsynonymous SNV I436L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.358 309841 chr21 47404304 47404304 G A rs150686304 COL6A1 Nonsynonymous SNV V117M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 309842 chr1 117619403 117619403 G T rs775760029 TTF2 Nonsynonymous SNV A511S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.141 309843 chr11 830904 830904 G A CRACR2B Synonymous SNV L275L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 309844 chr11 865752 865752 G A rs751339243 TSPAN4 Nonsynonymous SNV R164Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 309845 chr9 128509757 128509757 C A PBX3 Nonsynonymous SNV Q9K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.17 309846 chr21 47858170 47858170 G A PCNT Nonsynonymous SNV E2868K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 309847 chr3 52525996 52525996 A C NISCH Nonsynonymous SNV E1338A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.302 309848 chr1 6478947 6478947 A G rs763436382 HES2 Nonsynonymous SNV W170R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 309849 chr10 134622110 134622110 T C CFAP46 Nonsynonymous SNV T2655A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.382 309850 chr11 1480467 1480469 GTG - rs768483881 BRSK2 Stop gain G663del 0.001 0 0 0 1 0 0 0 0 0 0 0 309851 chr3 78734988 78734988 T C rs1057308108 ROBO1 Nonsynonymous SNV N381S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 309852 chr22 31864207 31864207 C G EIF4ENIF1 Nonsynonymous SNV K84N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 309853 chr3 86996206 86996206 G A VGLL3 Stop gain Q264X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 309854 chr10 134039067 134039067 G A rs370351692 STK32C Nonsynonymous SNV R259W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 309855 chr3 86996207 86996207 A T VGLL3 Nonsynonymous SNV H263Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 309856 chr22 33673227 33673227 G A rs368043810 LARGE1 Nonsynonymous SNV T631M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 309857 chr1 155156366 155156366 G A rs774025743 TRIM46 Synonymous SNV K534K 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 309858 chr22 35789537 35789537 C G rs751409902 HMOX1 Synonymous SNV V271V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 309859 chr11 3239446 3239446 C T rs536671714 MRGPRG Nonsynonymous SNV V200I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.941 309860 chr3 98072778 98072778 G T OR5K4 Synonymous SNV L27L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.714 309861 chr3 98072782 98072782 G T OR5K4 Nonsynonymous SNV V29L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 309862 chr22 37328864 37328864 G A rs140615543 CSF2RB Nonsynonymous SNV R357H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 309863 chr22 38477406 38477406 G A rs768720682 SLC16A8 Synonymous SNV A213A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 309864 chr1 34181939 34181939 C T rs775653058 CSMD2 Nonsynonymous SNV R1055H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 309865 chr22 41650381 41650401 CTCTTCTTCCTCCTCCTCCTC - rs767330242 RANGAP1 E391_E397del 0 0 0.003 0 0 0 0 1 0 0 0 0 309866 chr4 111470738 111470738 C G ENPEP Synonymous SNV A760A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 309867 chr4 114038550 114038550 A C rs1017475184 ANK2 Nonsynonymous SNV R35S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 309868 chr4 114275979 114275979 C T rs754572911 ANK2 Nonsynonymous SNV R2069C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 309869 chr22 50688491 50688491 C - HDAC10 0 0 0.003 1 0 0 0.003 1 0 0 0 0 309870 chr1 160523750 160523750 G A rs146076557 CD84 Nonsynonymous SNV T78M 0 0.003 0 0 0 1 0 0 0 0 0 0 32 309871 chr10 11911941 11911941 A T rs747913454 PROSER2 Nonsynonymous SNV R282W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 309872 chr2 10188425 10188425 G C rs776725808 KLF11 Nonsynonymous SNV A304P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 309873 chr4 151749627 151749627 C T rs755507503 LRBA Nonsynonymous SNV A1626T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 309874 chr11 6585741 6585741 G A DNHD1 Nonsynonymous SNV R3488Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.465 309875 chr2 125660527 125660527 G A rs375640846 CNTNAP5 Nonsynonymous SNV V1169I 0 0 0.007 0 0 0 0 2 0 0 0 0 26.5 309876 chr11 4112789 4112789 G A rs200324378 STIM1 Nonsynonymous SNV G713S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 7.589 309877 chr11 4411450 4411450 G A rs776665896 TRIM21 Nonsynonymous SNV R64W 0 0 0 1 0 0 0.003 0 0 0 0 0 10.5 309878 chr4 1817523 1817523 G A rs138176193 LETM1 Synonymous SNV N646N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.99 309879 chr1 85122169 85122169 T G SSX2IP 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 309880 chr11 10774265 10774265 - C CTR9 Frameshift insertion S32Qfs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 309881 chr4 186288336 186288336 A C rs780090604 LRP2BP X348E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 309882 chr1 183072734 183072734 C T rs115864963 LAMC1 Synonymous SNV S230S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.61 309883 chr1 183099657 183099657 G A rs200305826 LAMC1 Synonymous SNV E1153E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.49 309884 chr1 183617810 183617810 C T rs753388975 APOBEC4 Nonsynonymous SNV R36Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 309885 chr4 2238063 2238063 T C HAUS3 Synonymous SNV A490A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.759 309886 chr4 2306678 2306678 G A rs61910680 ZFYVE28 Synonymous SNV L433L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.013 309887 chr4 2460562 2460562 C T rs73791833 CFAP99 Nonsynonymous SNV T425M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.311 309888 chr4 2460956 2460956 C T rs550740183 CFAP99 Nonsynonymous SNV R476C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 309889 chr20 3781934 3781934 G A CDC25B Nonsynonymous SNV E55K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 309890 chr20 39791315 39791315 G A rs770095468 PLCG1 Nonsynonymous SNV G211R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 309891 chr11 19213975 19213975 G A rs151177504 CSRP3 Synonymous SNV G7G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.294 309892 chr1 19499683 19499683 C T rs751267140 UBR4 Nonsynonymous SNV A1095T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 309893 chr1 1961614 1961614 C T rs200019257 GABRD Nonsynonymous SNV R418W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.9 309894 chr11 22646900 22646900 C G rs748768759 FANCF Nonsynonymous SNV E153Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 309895 chr2 167143050 167143050 G A rs201531206 SCN9A Synonymous SNV S466S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.54 309896 chr2 167288879 167288879 A G rs199873735 SCN7A Synonymous SNV N847N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.507 309897 chr1 201282333 201282333 C T rs536458815 PKP1 Nonsynonymous SNV R116C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 309898 chr20 1226876 1226876 C G rs1046783680 RAD21L1 Nonsynonymous SNV S444C 0.002 0 0 0 2 0 0 0 0 0 0 0 11.4 309899 chr11 43465124 43465124 C T rs370700012 TTC17 Nonsynonymous SNV A834V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 309900 chr2 176032415 176032415 A G rs373954778 MIR933 0 0 0.003 0 0 0 0 1 0 0 0 0 6.858 309901 chr2 179401248 179401248 C T rs201112096 TTN Nonsynonymous SNV C24344Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.8 309902 chr2 179616750 179616750 C T rs148642498 TTN Synonymous SNV G3459G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.08 309903 chr4 56768609 56768609 A G rs759187855 EXOC1 Nonsynonymous SNV I798V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 309904 chr1 205902187 205902187 C G SLC26A9 Nonsynonymous SNV V51L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.172 309905 chr1 206944307 206944307 T A IL10 Nonsynonymous SNV H108L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 309906 chr1 9804022 9804022 G A rs375187320 CLSTN1 Nonsynonymous SNV R416W 0.002 0 0 0 2 0 0 0 0 0 0 0 32 309907 chr1 210126076 210126076 A G rs775501291 SYT14 Nonsynonymous SNV Y17C 0 0.003 0 0 0 1 0 0 0 0 0 0 10.11 309908 chr4 71508624 71508624 C A rs143617256 ENAM Nonsynonymous SNV S276Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 309909 chr2 201515769 201515769 A G AOX1 Nonsynonymous SNV I974V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 309910 chr20 1905434 1905434 A C rs771010369 SIRPA Nonsynonymous SNV N371T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 309911 chr20 61981017 61981017 G A CHRNA4 Synonymous SNV D582D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 309912 chr1 215368303 215368303 C T rs149941939 KCNK2 Synonymous SNV S273S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.69 309913 chr20 25657353 25657353 G A rs138762711 ZNF337 Nonsynonymous SNV R191W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 309914 chr20 31040067 31040067 G A rs73906141 NOL4L Synonymous SNV A354A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.076 309915 chr2 219206315 219206315 G - rs761519363 PNKD S172Afs*77 0 0 0.007 0 0 0 0 2 0 0 0 0 309916 chr20 3210854 3210855 CA - SLC4A11 A452Rfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 309917 chr20 3210857 3210857 C - SLC4A11 D451Mfs*129 0.001 0 0 0 1 0 0 0 0 0 0 0 309918 chr2 219288570 219288570 G A rs554821638 VIL1 Synonymous SNV R23R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 309919 chr4 95972885 95972885 A G rs772207151 BMPR1B Nonsynonymous SNV H12R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 309920 chr20 35835790 35835790 G A rs111986827 RPN2 Nonsynonymous SNV V112M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 309921 chr20 47266096 47266096 G A PREX1 Nonsynonymous SNV S1016L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 309922 chr2 220422963 220422963 C T rs200771559 OBSL1 Nonsynonymous SNV G1149R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 309923 chr20 37581079 37581079 C A rs750930999 FAM83D Nonsynonymous SNV N558K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 309924 chr11 45204614 45204614 C T rs375043780 PRDM11 Synonymous SNV F142F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.83 309925 chr1 1231418 1231418 C T rs770023070 ACAP3 Synonymous SNV R493R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.498 309926 chr11 46726511 46726511 C G rs371951145 ZNF408 Nonsynonymous SNV Q413E 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 309927 chr1 228675202 228675202 G T RNF187 Nonsynonymous SNV A5S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.38 309928 chr5 118788496 118788496 A G HSD17B4 Synonymous SNV E16E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.989 309929 chr2 228883801 228883801 G A rs112738851 SPHKAP Nonsynonymous SNV P590L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.006 309930 chr2 230020562 230020562 A G rs772979459 PID1 Nonsynonymous SNV M50T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 309931 chr5 126883529 126883529 T A PRRC1 Stop gain C348X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 309932 chr1 233136181 233136181 G A rs201255337 PCNX2 Nonsynonymous SNV P1733L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 309933 chr1 236702275 236702275 T C rs754566190 LGALS8 Synonymous SNV V77V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.356 309934 chr2 238243528 238243528 C T rs113721676 COL6A3 Synonymous SNV K2383K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.43 309935 chr11 62494512 62494512 G C HNRNPUL2 Synonymous SNV A39A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 309936 chr11 62748519 62748519 C T rs374657825 SLC22A6 Synonymous SNV S325S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 309937 chr11 62911224 62911224 C T rs76718173 SLC22A24 Nonsynonymous SNV V10M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 309938 chr11 62933535 62933535 G T rs116464608 SLC22A25 Synonymous SNV A422A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.279 309939 chr11 63231042 63231042 G A rs35375575 PLAAT5 Nonsynonymous SNV A248V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 309940 chr11 64329548 64329548 C G rs200198451 SLC22A11 Synonymous SNV A190A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.604 309941 chr1 246923272 246923272 C T rs140868268 SCCPDH Nonsynonymous SNV A276V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 309942 chr11 64622018 64622018 G A rs34740136 EHD1 Synonymous SNV G464G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.51 309943 chr11 64627492 64627492 G C rs61738612 EHD1 Synonymous SNV A273A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.564 309944 chr11 64646042 64646042 C A rs974215525 MIR10392 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 309945 chr11 64694261 64694261 T C PPP2R5B Nonsynonymous SNV C93R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 309946 chr11 64939916 64939916 A T SPDYC Nonsynonymous SNV N119I 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 309947 chr5 140807036 140807036 C T rs116302471 PCDHGB8P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.378 309948 chr11 65546017 65546017 C G AP5B1 Nonsynonymous SNV Q649H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 309949 chr11 66114383 66114383 G T B4GAT1 Nonsynonymous SNV L212M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 309950 chr11 66357988 66357988 C T rs375997354 CCDC87 Synonymous SNV L833L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.947 309951 chr2 37321270 37321270 G T rs765990534 GPATCH11 Stop gain E89X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 309952 chr11 57077882 57077882 C T rs201136016 TNKS1BP1 Nonsynonymous SNV G768D 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 309953 chr5 150924772 150924772 G A rs201060619 FAT2 Synonymous SNV V1972V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 309954 chr11 57254601 57254601 C T SLC43A1 Synonymous SNV A500A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.41 309955 chr5 153792483 153792483 C T rs143091614 GALNT10 Nonsynonymous SNV T474I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 309956 chr11 60703970 60703970 C A rs949129968 TMEM132A Nonsynonymous SNV T889N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.76 309957 chr2 63660918 63660944 GGCTCTGTCCTTCTCAGAAGAAATGGG - rs774995085 WDPCP P95_A103del 0 0 0.003 0 0 0 0 1 0 0 0 0 309958 chr11 77413033 77413033 A G RSF1 Nonsynonymous SNV L414S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 309959 chr11 85397137 85397137 T A CCDC89 Nonsynonymous SNV R13W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 309960 chr2 71654081 71654081 G C ZNF638 Nonsynonymous SNV L1694F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 309961 chr5 175992362 175992362 G A rs749923650 CDHR2 Synonymous SNV Q3Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.145 309962 chr2 86266507 86266507 T C rs944019713 POLR1A Synonymous SNV K1273K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.494 309963 chr2 8871439 8871439 G A rs202036173 KIDINS220 Nonsynonymous SNV A1520V 0 0 0.007 1 0 0 0.003 2 0 0 0 0 22.7 309964 chr1 40701670 40701670 A G rs145011524 RLF Synonymous SNV L432L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.351 309965 chr2 96781508 96781538 GCGCGGGGTGCGCTTGGAGTTGTACTCCAGC - ADRA2B L118Afs*61 0 0 0.003 0 0 0 0 1 0 0 0 0 309966 chr5 195119 195119 C T rs200547038 LRRC14B Nonsynonymous SNV P399L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 309967 chr3 101241272 101241272 T C rs148462617 FAM172BP 0 0 0.007 0 0 0 0 2 0 0 0 0 3.265 309968 chr11 111624232 111624234 TAG - rs782415132 PPP2R1B T239del 0.001 0 0 0 1 0 0 0 0 0 0 0 309969 chr1 45110690 45110690 C T rs145131553 RNF220 Nonsynonymous SNV P203L 0 0.003 0 0 0 1 0 0 0 0 0 0 25 309970 chr1 45213335 45213335 G A rs140925941 KIF2C Synonymous SNV R39R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.295 309971 chr1 45243566 45243566 A G rs140512155 SNORD38A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.88 309972 chr11 114167354 114167354 A G rs144899119 NNMT Nonsynonymous SNV K26E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 309973 chr3 113375167 113375167 G A rs199667564 USF3 Nonsynonymous SNV R1788C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 309974 chr1 52803506 52803506 A G ZFYVE9 Nonsynonymous SNV M1186V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.18 309975 chr11 118769836 118769836 G A BCL9L Nonsynonymous SNV P1263L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 309976 chr11 118886133 118886133 C T rs200160466 CCDC84 Nonsynonymous SNV R308C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 309977 chr11 73021754 73021754 G A rs148112775 ARHGEF17 Nonsynonymous SNV G691R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 309978 chr11 119169128 119169128 A T rs199788586 CBL Nonsynonymous SNV D771V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.9 309979 chr5 61876466 61876466 A G rs184337874 LRRC70 Nonsynonymous SNV I401V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.573 309980 chr5 66084509 66084509 C T MAST4 Nonsynonymous SNV L177F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 309981 chr11 120702655 120702655 G T GRIK4 Synonymous SNV P202P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.857 309982 chr3 122044171 122044171 C A rs750925495 CSTA Nonsynonymous SNV P11H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 309983 chr2 109088343 109088343 A G rs146256742 GCC2 Nonsynonymous SNV E853G 0.002 0 0 0 2 0 0 0 0 0 0 0 18.11 309984 chr11 71820968 71820968 T C rs769057498 ANAPC15 Nonsynonymous SNV M109V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 309985 chr1 6641310 6641310 C T rs781164527 ZBTB48 Nonsynonymous SNV P214L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.32 309986 chr1 67154918 67154918 G A rs756884311 SGIP1 Nonsynonymous SNV R269Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 309987 chr3 125899282 125899282 C T ALDH1L1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 7.741 309988 chr11 125237753 125237753 C T rs770561983 PKNOX2 Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 309989 chr1 201981185 201981185 C T rs752734750 ELF3 Synonymous SNV S88S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.63 309990 chr11 126162698 126162698 G A rs147530219 TIRAP Nonsynonymous SNV E132K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 309991 chr5 89705846 89705846 C T rs35253605 LOC731157 0 0 0.003 0 0 0 0 1 0 0 0 0 8.996 309992 chr1 203151969 203151969 G A rs780224525 CHI3L1 Synonymous SNV A159A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.85 309993 chr11 107663461 107663461 G T SLC35F2 Synonymous SNV T335T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.216 309994 chr12 662923 662925 GAG - rs748614471 B4GALNT3 E616del 0.001 0 0 0 1 0 0 0 0 0 0 0 309995 chr1 87208013 87208013 C T SH3GLB1 Nonsynonymous SNV P195L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 309996 chr22 42828262 42828262 G A rs758797446 NFAM1 Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 309997 chr6 109476435 109476435 C T rs351733 CEP57L1 Synonymous SNV D56D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 309998 chr11 12923524 12923524 A G rs201724459 TEAD1 Nonsynonymous SNV N246S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.53 309999 chr1 89844118 89844118 G A rs144008165 GBP6 Nonsynonymous SNV G61S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 310000 chr22 44681350 44681350 G C SHISAL1 Nonsynonymous SNV A186G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.108 310001 chr22 47069593 47069593 C T rs148538932 GRAMD4 Synonymous SNV Y448Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.335 310002 chr22 50439531 50439531 C T rs749758072 IL17REL Nonsynonymous SNV R87H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.679 310003 chr6 126210228 126210228 C T rs775596532 NCOA7 Nonsynonymous SNV S228L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.314 310004 chr11 121485586 121485586 A G rs117725215 SORL1 Nonsynonymous SNV N1809S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 23.8 310005 chr3 16252691 16252691 A C rs183531206 GALNT15 Synonymous SNV G380G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.929 310006 chr20 10386055 10386055 C T rs149051148 MKKS Nonsynonymous SNV R518H 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.903 310007 chr11 124756492 124756492 C T ROBO4 Nonsynonymous SNV A743T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 310008 chr11 129758536 129758536 T C rs142880975 NFRKB Nonsynonymous SNV N110S 0 0 0 1 0 0 0.003 0 0 0 0 0 12 310009 chr3 184049774 184049774 G A rs11559217 EIF4G1 Synonymous SNV A1311A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 310010 chr6 155561769 155561769 C T rs755437912 TIAM2 Nonsynonymous SNV R17C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 310011 chr2 179368574 179368574 A T rs755319734 PLEKHA3 Nonsynonymous SNV Q288L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.776 310012 chr12 30827635 30827635 C T rs953870374 IPO8 Nonsynonymous SNV C56Y 0.002 0 0 0 2 0 0 0 0 0 0 0 28.9 310013 chr20 31022571 31022571 A G ASXL1 Nonsynonymous SNV K625E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.203 310014 chr3 3196481 3196481 C T rs150489082 CRBN Nonsynonymous SNV R261H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 310015 chr6 170151758 170151758 A T rs200330797 ERMARD Nonsynonymous SNV E2V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.3 310016 chr2 141081499 141081503 TTTTG - LRP1B T4158Rfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 310017 chr6 170593037 170593037 C T rs16901311 DLL1 Nonsynonymous SNV V444M 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.183 310018 chr12 10462262 10462262 A G rs142024688 KLRD1 Synonymous SNV P15P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 310019 chr6 21231212 21231212 C T rs142991131 CDKAL1 Nonsynonymous SNV S561F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 310020 chr3 38793942 38793942 C T rs368776882 SCN10A Nonsynonymous SNV R508Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 310021 chr12 1740554 1740554 C T rs61732672 WNT5B Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 310022 chr2 152499725 152499725 G A NEB Nonsynonymous SNV S2700F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 310023 chr11 56020421 56020421 A G OR5T3 Nonsynonymous SNV D249G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.322 310024 chr2 157182352 157182352 T A NR4A2 Synonymous SNV T567T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.231 310025 chr12 52636903 52636903 C T rs140473746 KRT7 Synonymous SNV I322I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 310026 chr20 45912318 45912318 A G rs144475763 ZMYND8 Synonymous SNV P268P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.204 310027 chr3 47042816 47042816 C T rs886058600 NBEAL2 Nonsynonymous SNV A1477V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.75 310028 chr12 52774246 52774246 G T rs758224274 KRT84 Nonsynonymous SNV A442E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 310029 chr6 36334719 36334719 G A rs201731289 ETV7 Nonsynonymous SNV R130C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310030 chr3 50197136 50197136 G A rs565256754 SEMA3F Synonymous SNV P27P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.083 310031 chr11 57070002 57070002 T C TNKS1BP1 Synonymous SNV A1538A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 310032 chr6 36867370 36867370 - C rs777115998 C6orf89 Frameshift insertion Q61Afs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 310033 chr3 50390897 50390897 G A rs199640709 CYB561D2 Nonsynonymous SNV A131T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 310034 chr6 38885759 38885759 A T DNAH8 Nonsynonymous SNV N3239I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 310035 chr12 53509438 53509438 G A rs758462370 SOAT2 Synonymous SNV Q236Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 310036 chr12 53777359 53777359 A C SP1 Nonsynonymous SNV Q495P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 310037 chr2 185801135 185801135 G C ZNF804A Nonsynonymous SNV E338Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.006 310038 chr6 43127577 43127577 C G rs55921533 PTK7 Synonymous SNV P845P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.91 310039 chr12 49375084 49375084 C T rs760420626 WNT1 Synonymous SNV Y258Y 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 310040 chr3 57632145 57632145 A G DENND6A Nonsynonymous SNV L280P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 310041 chr6 43413346 43413346 A C ABCC10 Nonsynonymous SNV T986P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 310042 chr12 16410763 16410763 A - SLC15A5 L209Rfs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 310043 chr20 61444804 61444923 GAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGAT - OGFR E616_A655del 0 0.003 0 0 0 1 0 0 0 0 0 0 310044 chr12 69656234 69656234 T C rs749130325 CPSF6 Synonymous SNV H517H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.858 310045 chr12 53218094 53218094 A C KRT79 Nonsynonymous SNV M303R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 310046 chr11 65314961 65314961 T G LTBP3 Nonsynonymous SNV N686H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 310047 chr11 65320447 65320447 T A rs768032779 LTBP3 Nonsynonymous SNV N357I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 310048 chr6 64422277 64422277 A G PHF3 Nonsynonymous SNV Q1510R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 310049 chr4 103236841 103236841 T C SLC39A8 Synonymous SNV R55R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.086 310050 chr12 80658878 80658878 C T rs374769406 OTOGL Synonymous SNV H695H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.507 310051 chr11 65404156 65404156 C T PCNX3 Nonsynonymous SNV S1963F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 310052 chr11 67925962 67925962 T G rs778951109 KMT5B Synonymous SNV G445G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.165 310053 chr12 104376692 104376692 C T rs138185700 TDG Synonymous SNV P55P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 310054 chr21 40823971 40823971 C T rs150744228 SH3BGR Synonymous SNV G46G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.9 310055 chr12 109017454 109017454 - TCCATGGCTGCTGGTGCAGTGGTCTGTGCC SELPLG T230_P231insAPAAMEAQTT 0.001 0 0 0 1 0 0 0 0 0 0 0 310056 chr12 111744799 111744799 G A rs753137780 CUX2 Synonymous SNV L249L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.607 310057 chr12 111758016 111758016 A G rs771565607 CUX2 Nonsynonymous SNV T673A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 310058 chr4 151773437 151773437 C T rs963181560 LRBA Nonsynonymous SNV G1142D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.173 310059 chr21 43546473 43546473 G A rs188500785 UMODL1 Nonsynonymous SNV V1112M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 310060 chr12 82747043 82747043 T C CCDC59 Nonsynonymous SNV K205E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 310061 chr12 82747045 82747045 T G CCDC59 Nonsynonymous SNV Y204S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 310062 chr21 46032083 46032083 T A rs145545716 KRTAP10-8 Nonsynonymous SNV S22R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.45 310063 chr21 46896269 46896269 C T rs375414087 COL18A1 Nonsynonymous SNV A448V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.333 310064 chr4 176923566 176923566 G C GPM6A Nonsynonymous SNV A59G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 310065 chr4 187192903 187192903 C T rs144595035 F11 Nonsynonymous SNV P66S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 310066 chr7 106685543 106685543 C T PRKAR2B Nonsynonymous SNV A64V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 310067 chr7 111580223 111580223 T C rs770481011 DOCK4 Nonsynonymous SNV S307G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 310068 chr22 20760872 20760872 G T ZNF74 Nonsynonymous SNV V446L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 310069 chr7 11675923 11675923 C G THSD7A Nonsynonymous SNV D286H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 310070 chr12 113533204 113533204 C T rs779715260 DTX1 Synonymous SNV N541N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.57 310071 chr7 127724807 127724807 G T SND1 Nonsynonymous SNV M714I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 310072 chr12 117696909 117696909 A G NOS1 Synonymous SNV I462I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.135 310073 chr4 36345345 36345345 C T rs181892217 DTHD1 Nonsynonymous SNV R584C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 23.6 310074 chr13 21549115 21549115 C T rs776466850 LATS2 Nonsynonymous SNV R1054Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 310075 chr4 40434705 40434713 GCGGCTGCG - rs547575066 RBM47 A431_A433del 0 0 0.003 0 0 0 0 1 0 0 0 0 310076 chr22 26829859 26829859 T C rs779139697 ASPHD2 Nonsynonymous SNV M93T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.253 310077 chr4 48027095 48027095 G T NIPAL1 Synonymous SNV L19L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.543 310078 chr22 28392242 28392242 T A rs574046157 TTC28 Nonsynonymous SNV M1709L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.328 310079 chr12 123353111 123353111 - G rs760371199 VPS37B 0 0 0 1 0 0 0.003 0 0 0 0 0 310080 chr2 27600534 27600534 G A rs146942939 ZNF513 Nonsynonymous SNV P440S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 22.3 310081 chr4 53611223 53611223 A G rs1057082451 ERVMER34-1 Synonymous SNV D155D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.172 310082 chr22 30733763 30733763 C T rs144118422 SF3A1 Nonsynonymous SNV A623T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 310083 chr7 143747597 143747597 G A rs373980993 OR2A5 Nonsynonymous SNV V35I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 310084 chr7 1484825 1484825 G A rs1037851083 MICALL2 Nonsynonymous SNV S294L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 310085 chr4 66270192 66270192 C T rs376412603 EPHA5 Nonsynonymous SNV A565T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 310086 chr7 1498958 1498958 G A rs772990568 MICALL2 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 310087 chr11 125792772 125792772 A G rs758209104 DDX25 Nonsynonymous SNV Y369C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 310088 chr13 73428225 73428225 G A rs200333064 PIBF1 Synonymous SNV V418V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.502 310089 chr13 76381660 76381660 T C LMO7 Nonsynonymous SNV I87T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 310090 chr7 151093009 151093009 C T WDR86 Synonymous SNV T193T 0 0 0.01 0 0 0 0 3 0 0 0 0 9.799 310091 chr7 154561264 154561264 C G rs748899852 DPP6 Nonsynonymous SNV P234A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 310092 chr22 40391191 40391191 C T rs575537665 FAM83F Nonsynonymous SNV R49W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 310093 chr13 100915003 100915003 C T rs370156549 PCCA Nonsynonymous SNV S220F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 310094 chr4 81187987 81187987 G A rs1053933833 FGF5 Synonymous SNV L3L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 310095 chr7 20762675 20762675 G A rs747525237 ABCB5 Nonsynonymous SNV A375T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 310096 chr22 43089668 43089668 G A rs146544312 A4GALT Nonsynonymous SNV S97L 0 0.003 0 0 0 1 0 0 0 0 0 0 27 310097 chr13 28979994 28979994 G A rs55675306 FLT1 Synonymous SNV L492L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.89 310098 chr4 8608498 8608498 A G CPZ Nonsynonymous SNV Q303R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 310099 chr4 87655951 87655951 A C PTPN13 Nonsynonymous SNV M692L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.42 310100 chr12 6438736 6438736 G A rs201683984 TNFRSF1A Synonymous SNV R262R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.43 310101 chr2 69049513 69049513 G A rs370858973 ARHGAP25 Synonymous SNV P407P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.225 310102 chr7 28280599 28280599 T - rs57522539 JAZF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 310103 chr7 28280607 28280607 T A rs186513920 JAZF1-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 1.765 310104 chr4 985410 985410 G A rs566030346 SLC26A1 Nonsynonymous SNV R28C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.446 310105 chr13 41240039 41240039 C G rs963605898 FOXO1 Nonsynonymous SNV G104A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.457 310106 chr7 30961749 30961749 A G rs760764989 AQP1 Synonymous SNV L151L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.056 310107 chr12 10226001 10226001 C T rs140908455 CLEC1A Nonsynonymous SNV A93T 0.002 0 0 0 2 0 0 0 0 0 0 0 13.17 310108 chr22 50662684 50662684 C T rs772397375 TUBGCP6 Nonsynonymous SNV R719Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.4 310109 chr22 50693754 50693754 C T rs200947001 MAPK12 Nonsynonymous SNV R289Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 310110 chr2 97544174 97544174 C T FAM178B Synonymous SNV Q70Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.985 310111 chr7 48092404 48092404 C A rs776631751 C7orf57 Nonsynonymous SNV T100N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.014 310112 chr2 105924099 105924099 C T rs537787089 TGFBRAP1 Synonymous SNV E220E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.17 310113 chr14 23874883 23874883 C A MYH6 Nonsynonymous SNV A100S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 310114 chr14 24545728 24545728 T A CPNE6 Nonsynonymous SNV F376Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 310115 chr7 5401565 5401565 G A rs746324685 TNRC18 Nonsynonymous SNV R1499C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 310116 chr14 24590580 24590580 G A rs200269782 DCAF11 Nonsynonymous SNV R418Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 310117 chr14 24675857 24675857 C T rs761619135 TSSK4 Nonsynonymous SNV P123L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 310118 chr7 55433790 55433790 C T rs61749018 LANCL2 Synonymous SNV F24F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 310119 chr7 6098625 6098625 G C rs200278775 EIF2AK1 Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 310120 chr13 113889457 113889457 A G CUL4A Synonymous SNV T282T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.285 310121 chr14 31828198 31828198 C T rs755041656 HEATR5A Nonsynonymous SNV A713T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 310122 chr3 142272170 142272170 A G rs146202702 ATR Nonsynonymous SNV S838P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 310123 chr3 142277587 142277587 T C rs149482096 ATR Synonymous SNV E524E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.356 310124 chr14 35270310 35270310 C T rs545771909 BAZ1A Nonsynonymous SNV M317I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.98 310125 chr7 73457314 73457314 G A rs145519139 ELN Nonsynonymous SNV G99D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 310126 chr5 140250306 140250306 G T PCDHA11 Nonsynonymous SNV G540C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 310127 chr14 36104722 36104722 G A rs375997306 RALGAPA1 Nonsynonymous SNV T1873M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 310128 chr5 140711508 140711508 C T PCDHGA1 Synonymous SNV N419N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 310129 chr7 97822597 97822597 A G rs188511589 LMTK2 Synonymous SNV L940L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.373 310130 chr7 98545948 98545948 G T rs35426979 TRRAP Synonymous SNV R1526R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.959 310131 chr2 155252547 155252547 C T GALNT13 Synonymous SNV L401L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 310132 chr13 114058455 114058455 T C LOC101928841 Synonymous SNV E1350E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.16 310133 chr5 150945701 150945701 C T rs771672087 FAT2 Nonsynonymous SNV R931K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.808 310134 chr13 115090773 115090773 A G rs199550269 CHAMP1 Nonsynonymous SNV I486V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 310135 chr14 63747800 63747800 C G rs141927241 RHOJ Nonsynonymous SNV P117A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 310136 chr8 110418587 110418587 G A PKHD1L1 Nonsynonymous SNV E565K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 310137 chr2 162363923 162363923 C G AHCTF1P1 0 0.003 0 0 0 1 0 0 0 0 0 0 1.284 310138 chr8 110463262 110463262 G A rs755892259 PKHD1L1 Synonymous SNV Q2078Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.013 310139 chr14 65199551 65199551 G A rs768428970 PLEKHG3 Nonsynonymous SNV R426Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 310140 chr2 1647263 1647263 T C rs201392512 PXDN Nonsynonymous SNV N1277D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.16 310141 chr14 67576942 67576942 T C GPHN Nonsynonymous SNV V427A 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 310142 chr5 162932718 162932718 C T rs555495270 MAT2B Nonsynonymous SNV S9F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 310143 chr14 21769246 21769246 T C RPGRIP1 Nonsynonymous SNV S114P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 310144 chr5 172110602 172110602 A C rs777390860 NEURL1B Nonsynonymous SNV D71A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 310145 chr3 127702942 127702942 C T rs754623309 KBTBD12 Nonsynonymous SNV R565C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 310146 chr5 173534487 173534487 G C rs763191901 NSG2 Synonymous SNV P165P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 310147 chr8 12589291 12589291 A T rs562224527 LONRF1 Nonsynonymous SNV S537T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 310148 chr14 74973513 74973513 G A rs113219139 LTBP2 Synonymous SNV C1307C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.838 310149 chr5 176885421 176885421 C T rs151027179 DBN1 Nonsynonymous SNV A204T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 310150 chr2 179209049 179209049 C T rs140706412 OSBPL6 Nonsynonymous SNV R321W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.3 310151 chr5 179287207 179287207 - GTGT LOC100996419 0 0 0.003 0 0 0 0 1 0 0 0 0 310152 chr2 179483454 179483454 A G rs397517588 TTN Nonsynonymous SNV L6543S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.4 310153 chr8 143746227 143746227 G A rs113155554 JRK Synonymous SNV H417H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.269 310154 chr8 143746941 143746941 G A rs192933202 JRK Synonymous SNV S179S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.532 310155 chr8 143747464 143747464 G A rs184845447 JRK Nonsynonymous SNV P5L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 310156 chr14 58690506 58690506 C G rs200082520 ACTR10 Synonymous SNV P240P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.06 310157 chr3 140401595 140401595 C T TRIM42 Synonymous SNV H211H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 310158 chr3 164735376 164735376 C T SI Nonsynonymous SNV R1240Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 310159 chr8 144663444 144663444 C T rs11548167 EEF1D Nonsynonymous SNV V58I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.946 310160 chr3 147130438 147130438 G T rs147993210 ZIC1 Synonymous SNV T372T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.84 310161 chr14 94962852 94962852 G A SERPINA12 Nonsynonymous SNV L255F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 310162 chr8 144811400 144811400 G A FAM83H Synonymous SNV L181L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 310163 chr3 32806209 32806209 G A rs1053584597 CNOT10 Nonsynonymous SNV V611I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 310164 chr3 36893810 36893810 C G rs374941599 TRANK1 Nonsynonymous SNV V1482L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 310165 chr3 155571507 155571507 T A rs780342840 SLC33A1 Nonsynonymous SNV S94C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 310166 chr8 145659564 145659564 G A rs367754042 TONSL Synonymous SNV L1062L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 310167 chr14 73822405 73822405 C T NUMB Nonsynonymous SNV A19T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 310168 chr14 73980889 73980889 G A rs779951152 HEATR4 Synonymous SNV P420P 0 0 0 2 0 0 0.005 0 0 0 0 0 7.09 310169 chr5 56155651 56155651 G A rs201579608 MAP3K1 Nonsynonymous SNV R248Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 310170 chr14 58869413 58869413 A G rs145388081 TOMM20L Nonsynonymous SNV K66E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 310171 chr3 42700095 42700095 C T rs770000962 ZBTB47 Nonsynonymous SNV A83V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 310172 chr5 71495041 71495041 T A rs3805452 MAP1B Synonymous SNV G1827G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.121 310173 chr8 24251599 24251599 A C rs200750415 ADAMDEC1 Nonsynonymous SNV D22A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 310174 chr15 33905439 33905439 C T rs780714493 RYR3 Synonymous SNV D740D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.957 310175 chr5 7757700 7757700 G T ADCY2 0 0 0.007 0 0 0 0 2 0 0 1 0 25.4 310176 chr8 30704364 30704364 C T rs62000449 TEX15 Nonsynonymous SNV A1107T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 310177 chr3 49062587 49062587 C T rs183457824 IMPDH2 Synonymous SNV A374A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 310178 chr12 111885526 111885526 G A rs199694759 SH2B3 Nonsynonymous SNV V233M 0.002 0 0 0 2 0 0 0 0 0 0 0 12.45 310179 chr2 216285422 216285422 C T rs375548740 FN1 Nonsynonymous SNV R550Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 310180 chr8 37702287 37702287 C G rs150211844 BRF2 Synonymous SNV P327P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.119 310181 chr8 37728814 37728814 G C rs772352272 RAB11FIP1 Nonsynonymous SNV T1169S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.436 310182 chr8 37729309 37729309 A G rs79124779 RAB11FIP1 Nonsynonymous SNV V1004A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.311 310183 chr8 37730653 37730653 G T rs750045021 RAB11FIP1 Nonsynonymous SNV S556Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 310184 chr3 195787090 195787090 G A rs764213826 TFRC Synonymous SNV S217S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.99 310185 chr8 39624456 39624456 G A ADAM2 Nonsynonymous SNV T454I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 310186 chr3 51743211 51743211 G T rs200502357 GRM2 Nonsynonymous SNV R71L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 310187 chr12 117486876 117486876 G A rs189129803 TESC Synonymous SNV D72D 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 3.007 310188 chr15 42201942 42201942 T C EHD4 Synonymous SNV E348E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.448 310189 chr15 42436808 42436808 C G PLA2G4F Synonymous SNV S605S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.69 310190 chr3 32030658 32030658 G A rs773674971 ZNF860 Synonymous SNV V29V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.446 310191 chr8 61769038 61769038 G A rs534510177 CHD7 Nonsynonymous SNV R2400Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.2 310192 chr14 103806859 103806859 T A rs116928037 EIF5 Synonymous SNV S389S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.99 310193 chr6 106969031 106969031 G A rs142990443 CRYBG1 Synonymous SNV S908S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 310194 chr15 25961910 25961910 G C rs139636096 ATP10A Synonymous SNV V581V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.169 310195 chr15 60747540 60747540 A G rs151196206 ICE2 Synonymous SNV A119A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.409 310196 chr8 95479689 95479689 T G rs769043606 RAD54B Nonsynonymous SNV N27H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.734 310197 chr15 63796968 63796968 C G rs145606344 USP3 Synonymous SNV V10V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 310198 chr6 129799901 129799901 G A rs200364360 LAMA2 Synonymous SNV P2501P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.65 310199 chr6 131190813 131190813 C A rs150873575 EPB41L2 Nonsynonymous SNV A361S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.34 310200 chr6 13281374 13281374 G C LOC100130357 0 0 0.003 0 0 0 0 1 0 0 0 0 0.666 310201 chr3 48696614 48696614 G A rs754395490 CELSR3 Nonsynonymous SNV R1152W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 310202 chr6 13632685 13632685 G T rs769985943 RANBP9 Nonsynonymous SNV H622N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.61 310203 chr3 49693384 49693384 G A BSN Nonsynonymous SNV G2132E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.154 310204 chr3 49699775 49699775 C T rs369652563 BSN Synonymous SNV S3499S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.173 310205 chr3 51673540 51673540 C A RAD54L2 Nonsynonymous SNV R656S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 310206 chr6 144507955 144507955 G A STX11 Nonsynonymous SNV R64Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 310207 chr3 49569184 49569184 A T rs768983113 DAG1 Nonsynonymous SNV T414S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.61 310208 chr9 111881645 111881645 G A TMEM245 Synonymous SNV C183C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.811 310209 chr3 49924777 49924777 C T rs202219889 MST1R Nonsynonymous SNV R1283Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 310210 chr2 24246521 24246523 TCT - rs772894714 MFSD2B F414del 0 0.003 0 0 0 1 0 0 0 0 0 0 310211 chr22 43089652 43089652 G C rs377301330 A4GALT Synonymous SNV A102A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.043 310212 chr6 154411245 154411245 G T rs62638690 OPRM1 Nonsynonymous SNV C92F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 drug response 25.1 310213 chr3 57632163 57632163 C A rs747859024 DENND6A Nonsynonymous SNV C274F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 310214 chr3 58508262 58508262 A C rs748005627 ACOX2 Synonymous SNV A531A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.731 310215 chr2 26693568 26693568 - CTTCTC OTOF K615_K616insEK 0 0.003 0 0 0 1 0 0 0 0 0 0 310216 chr3 57323104 57323104 A G rs778511339 ASB14 Nonsynonymous SNV I57T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 310217 chr9 127533379 127533379 G T rs543821083 NR6A1 Nonsynonymous SNV P7Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 310218 chr15 89760394 89760394 G A rs144254383 RLBP1 Synonymous SNV R101R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.67 310219 chr15 67664607 67664607 C T rs764780502 IQCH Synonymous SNV H52H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.491 310220 chr6 24832562 24832562 A G RIPOR2 Nonsynonymous SNV S756P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 310221 chr4 102712076 102712076 G C BANK1 Synonymous SNV P13P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 10.49 310222 chr2 44078846 44078846 C T rs748508780 ABCG8 Nonsynonymous SNV A149V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 310223 chr15 75042486 75042486 G A rs150893756 CYP1A2 Nonsynonymous SNV R136H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.5 310224 chr15 62270937 62270937 T C VPS13C Synonymous SNV K683K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.989 310225 chr2 55544930 55544930 C T rs371217296 CCDC88A Synonymous SNV Q1123Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.66 310226 chr15 66621308 66621308 G C DIS3L Synonymous SNV R608R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 310227 chr15 67500993 67500993 G A rs200297750 AAGAB Nonsynonymous SNV P99S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.369 310228 chr2 70528809 70528809 C T FAM136A Nonsynonymous SNV R112Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.227 310229 chr9 139277739 139277739 C T SNAPC4 Nonsynonymous SNV V628M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.554 310230 chr15 89424612 89424612 C T rs149540064 HAPLN3 Nonsynonymous SNV G157S 0 0 0 1 0 0 0.003 0 0 0 0 0 21 310231 chr4 135122015 135122023 CATAGCCCA - PABPC4L L51_A54delinsP 0.001 0 0 0 1 0 0 0 0 0 0 0 310232 chr2 74691797 74691797 G T MOGS Nonsynonymous SNV H135Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 310233 chr2 75186533 75186533 C G rs777072143 POLE4 Synonymous SNV T93T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.95 310234 chr16 1551455 1551455 C T rs139539769 TELO2 Nonsynonymous SNV A439V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 310235 chr9 140611129 140611129 C T EHMT1 Nonsynonymous SNV A15V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 310236 chr15 81187393 81187393 T C rs143858012 CEMIP Synonymous SNV Y383Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.969 310237 chr2 88425751 88425751 C T rs184923111 FABP1 Nonsynonymous SNV E62K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 13.97 310238 chr6 44280840 44280840 A T rs757169781 AARS2 Nonsynonymous SNV F74Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29 310239 chr16 3107096 3107096 G A rs150670162 MMP25 Nonsynonymous SNV G242S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 310240 chr4 15964217 15964217 G A rs757572447 FGFBP2 Nonsynonymous SNV T179I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.993 310241 chr16 3598198 3598198 T C rs373631024 NLRC3 Nonsynonymous SNV Q903R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 310242 chr6 52943630 52943630 T C rs755355476 FBXO9 Nonsynonymous SNV V124A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 310243 chr15 89401575 89401575 G A ACAN Nonsynonymous SNV G1920E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 310244 chr9 35077023 35077023 G A rs201438531 FANCG Nonsynonymous SNV P241L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 310245 chr9 35724945 35724945 C T rs149966849 TLN1 Synonymous SNV E80E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.66 310246 chr9 35810978 35810978 C T rs143351966 SPAG8 Nonsynonymous SNV R314Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.566 310247 chr3 111718439 111718439 T A rs766037234 TAGLN3 Nonsynonymous SNV M57K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.36 310248 chr3 111718440 111718440 G A rs753786136 TAGLN3 Nonsynonymous SNV M57I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 310249 chr16 9857823 9857823 A C rs75761674 GRIN2A Nonsynonymous SNV L1193W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 310250 chr3 113798885 113798885 G A rs377140129 QTRT2 Synonymous SNV Q187Q 0 0.003 0 0 0 1 0 0 0 0 0 0 9.156 310251 chr9 73255506 73255506 G A rs767103779 TRPM3 Synonymous SNV S472S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 310252 chr9 738321 738321 C T rs773671294 KANK1 Nonsynonymous SNV R868C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 310253 chr6 80816443 80816443 A T rs755140913 BCKDHB Synonymous SNV L11L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.057 310254 chr3 119529022 119529022 G A rs759718252 NR1I2 Synonymous SNV E104E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.31 310255 chr6 87964574 87964574 G A rs75154406 ZNF292 Synonymous SNV L409L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.22 310256 chr16 17353134 17353134 G C XYLT1 Nonsynonymous SNV F208L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 310257 chr6 90388466 90388466 T A MDN1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 310258 chr3 121634488 121634488 C T rs747879915 SLC15A2 Synonymous SNV D184D 0 0.003 0 0 0 1 0 0 0 0 0 0 12.1 310259 chr16 20752865 20752865 T C rs138029334 THUMPD1 Nonsynonymous SNV N66S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 310260 chr6 90433264 90433264 A T rs370875568 MDN1 Nonsynonymous SNV N1915K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 310261 chr16 21042591 21042591 A G rs201066816 DNAH3 Nonsynonymous SNV F1693L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 310262 chr4 22425967 22425967 G A rs61741722 ADGRA3 Synonymous SNV D484D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.202 310263 chr4 1985422 1985422 T G NELFA Synonymous SNV R435R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.487 310264 chr9 91953493 91953493 G A SECISBP2 Nonsynonymous SNV E403K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 310265 chr14 58830963 58830963 A G rs767696968 ARID4A Nonsynonymous SNV D719G 0.002 0 0 0 2 0 0 0 0 0 0 0 16.83 310266 chr16 24873935 24873935 C A rs973008007 SLC5A11 Nonsynonymous SNV T50N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 310267 chr9 96051745 96051745 C T rs371890649 WNK2 Nonsynonymous SNV A1570V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 310268 chr14 60581991 60581991 T C PCNX4 Nonsynonymous SNV I156T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.026 310269 chr3 124774655 124774657 GCC - rs769007614 HEG1 A27del 0 0.003 0 0 0 1 0 0 0 0 0 0 310270 chr14 61789049 61789049 C T rs748723704 PRKCH Nonsynonymous SNV T77I 0.002 0 0 0 2 0 0 0 0 0 0 0 19.86 310271 chrM 1009 1009 G A RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 310272 chrUn_gl000220 118160 118160 C G RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 310273 chrUn_gl000220 118167 118167 C T RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 310274 chr16 30123718 30123718 C T rs200678682 GDPD3 Nonsynonymous SNV R131H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 310275 chr14 64604655 64604655 G C rs765644476 SYNE2 Nonsynonymous SNV D4933H 0.003 0 0 0 3 0 0 0 0 0 0 0 29.7 310276 chr14 64692155 64692155 G C rs371152824 SYNE2 Nonsynonymous SNV E401Q 0.003 0 0 0 3 0 0 0 0 0 0 0 33 310277 chr4 40356152 40356152 A G CHRNA9 Nonsynonymous SNV Y352C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 310278 chr16 4457526 4457526 C T rs775952526 CORO7, CORO7-PAM16 Nonsynonymous SNV A137T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 310279 chrX 129146965 129146965 G A rs746653501 BCORL1 Nonsynonymous SNV G73R 0 0 0.01 0 0 0 0 3 0 0 1 0 20.1 310280 chr16 52498071 52498071 G A rs772999327 TOX3 Synonymous SNV D61D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.309 310281 chrX 133303465 133303465 G A rs199822597 MIR363 0 0 0.007 0 0 0 0 2 0 0 0 0 14.21 310282 chr4 47571124 47571124 T C rs552299579 ATP10D Synonymous SNV L1042L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 310283 chr7 100799880 100799880 G A AP1S1 Synonymous SNV R3R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.819 310284 chrX 147011712 147011712 C T rs781977593 FMR1 Synonymous SNV R193R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 310285 chrX 150840852 150840852 G A rs753296675 PASD1 Synonymous SNV E545E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.784 310286 chr7 106897202 106897202 T C rs747457457 COG5 Nonsynonymous SNV E606G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 310287 chr4 57889668 57889668 C T rs757282497 POLR2B Synonymous SNV L821L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 310288 chr3 143185951 143185951 A G rs777746779 SLC9A9 Nonsynonymous SNV L466P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 310289 chr16 22358985 22358985 T C rs749416692 CDR2 Synonymous SNV E222E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.678 310290 chrX 153691826 153691826 G A rs150826326 PLXNA3 Synonymous SNV P470P 0 0 0.003 0 0 0 0 1 0 0 0 0 11 310291 chr3 146159604 146159604 T C rs558753242 PLSCR2 Nonsynonymous SNV Y286C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 310292 chr14 88945419 88945419 G T rs140596899 PTPN21 Nonsynonymous SNV P786T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.855 310293 chr4 68703890 68703890 A G TMPRSS11D Nonsynonymous SNV S159P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 310294 chr7 123097583 123097583 G A rs145461420 IQUB Nonsynonymous SNV A682V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 310295 chr16 28489197 28489197 C A CLN3 Nonsynonymous SNV C253F 0 0 0 1 0 0 0.003 0 0 0 0 0 6.334 310296 chrX 30269639 30269639 C T rs758519496 MAGEB1 Synonymous SNV S343S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.917 310297 chr3 151165365 151165365 G C rs772104583 IGSF10 Nonsynonymous SNV L802V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.127 310298 chr7 127223262 127223262 G A GCC1 Synonymous SNV G378G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.286 310299 chrX 47083888 47083888 A G rs779886300 CDK16 Nonsynonymous SNV N177D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 310300 chr16 29908316 29908316 C G rs367921747 SEZ6L2 Nonsynonymous SNV R69T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 310301 chr16 30369401 30369421 TCCTGCTTCTCTCGCTCCTTT - rs753220110 TBC1D10B E761_R767del 0 0 0 1 0 0 0.003 0 0 0 0 0 310302 chr7 129691167 129691167 C T rs150600534 ZC3HC1 Nonsynonymous SNV V14I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.145 310303 chrX 64772132 64772132 G T rs779608467 FRMD8P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.428 310304 chr7 131872316 131872316 C T rs369466076 PLXNA4 Synonymous SNV G969G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 310305 chr16 31095544 31095544 G A rs145846447 PRSS53 Nonsynonymous SNV A513V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 310306 chr16 81730186 81730186 G A rs747446667 CMIP Nonsynonymous SNV V424M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 310307 chr16 47531399 47531399 G T PHKB Nonsynonymous SNV V56F 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 310308 chrX 92964511 92964511 A G FAM133A Synonymous SNV Q31Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.511 310309 chrX 99956293 99956293 T A SYTL4 Nonsynonymous SNV Y120F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 310310 chr7 138603216 138603216 C T rs566170382 KIAA1549 Nonsynonymous SNV D386N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.13 310311 chr16 84228583 84228583 G A rs757925800 ADAD2 Nonsynonymous SNV V202I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.205 310312 chr16 56226222 56226222 G A rs182812404 GNAO1 Synonymous SNV E25E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 9.861 310313 chr7 140223219 140223219 G A rs375396888 DENND2A Synonymous SNV D851D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 310314 chr10 102748163 102748163 G A rs778728809 TWNK Nonsynonymous SNV G66R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.007 310315 chr16 85024113 85024113 G A rs372631686 ZDHHC7 Nonsynonymous SNV R38W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 310316 chr3 183963503 183963503 A T rs200538695 ALG3 Synonymous SNV L50L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.18 310317 chr4 87622856 87622856 G A rs200400344 PTPN13 Nonsynonymous SNV R366Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.99 310318 chr3 185191196 185191196 G A rs141622951 MAP3K13 Nonsynonymous SNV G486S 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 310319 chr2 219563895 219563895 C T rs368618754 STK36 Nonsynonymous SNV R1189C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 310320 chr4 89311994 89311994 T A rs28435459 HERC6 Nonsynonymous SNV S209R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 310321 chr4 89345760 89345760 C T rs6532068 HERC6 Nonsynonymous SNV T614I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.088 310322 chr10 114190582 114190582 C A rs760055505 ZDHHC6 Nonsynonymous SNV G404W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310323 chr7 149559200 149559200 A G ZNF862 Nonsynonymous SNV Y984C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 310324 chr7 1512808 1512808 G A rs138397380 INTS1 Synonymous SNV F1990F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 310325 chr3 194877245 194877248 CAAA - XXYLT1 F93Rfs*14 0 0.003 0 0 0 1 0 0 0 0 0 0 310326 chr16 66527218 66527218 A C BEAN1 Nonsynonymous SNV E167D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 310327 chr16 67219280 67219280 A G rs138391550 EXOC3L1 Nonsynonymous SNV L537P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 310328 chr16 75668112 75668112 T C rs143117090 KARS1 Nonsynonymous SNV M292V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 310329 chr7 1785120 1785120 C T rs202182712 ELFN1 Synonymous SNV S296S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.289 310330 chr16 81222545 81222545 G A rs748006351 PKD1L2 Nonsynonymous SNV T577M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.9 310331 chr3 37357045 37357045 C T GOLGA4 Stop gain Q457X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 310332 chr7 29539521 29539521 G A rs766245824 CHN2 Nonsynonymous SNV V124I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 310333 chr7 30008609 30008609 C G rs750489506 SCRN1 Synonymous SNV G25G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 310334 chr7 30705195 30705195 C T rs201038501 CRHR2 Nonsynonymous SNV V125I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.3 310335 chr5 132537692 132537692 G A rs151054673 FSTL4 Nonsynonymous SNV R587C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 310336 chr10 135106660 135106660 G C rs750963177 TUBGCP2 Nonsynonymous SNV H173D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 310337 chr15 48559826 48559826 G A rs141643222 SLC12A1 Synonymous SNV K741K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.45 310338 chr10 135203243 135203243 G A rs376638594 PAOX Nonsynonymous SNV G462S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.147 310339 chr3 42251578 42251583 GGAGGA - TRAK1 E623_E624del 0 0.003 0 0 0 1 0 0 0 0 0 0 310340 chr3 42251583 42251583 - GGA TRAK1 E624_G625insE 0 0.003 0 0 0 1 0 0 0 0 0 0 310341 chr17 5302948 5302948 A G rs767108026 NUP88 Synonymous SNV Y405Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.744 310342 chr5 139943272 139943275 AGTC - rs750165941 MIR6831 0.001 0 0 0 1 0 0 0 0 0 0 0 310343 chr15 54307025 54307025 A T UNC13C Nonsynonymous SNV H642L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 310344 chr2 241375410 241375410 G A GPC1 Synonymous SNV P25P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.61 310345 chr10 21074808 21074808 G A rs575423101 NEBL Synonymous SNV D227D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.448 310346 chr16 88501393 88501393 G A rs775992269 ZNF469 Synonymous SNV P2505P 0.002 0 0.003 0 2 0 0 1 0 0 0 0 5.568 310347 chr3 47044163 47044163 G A rs372175059 NBEAL2 Nonsynonymous SNV R1743Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.45 310348 chr15 63433784 63433784 C T rs556545187 LACTB Nonsynonymous SNV S475L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 310349 chr7 48494695 48494695 C G rs776382690 ABCA13 Synonymous SNV A4209A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.015 310350 chr7 64439390 64439390 G A ERV3-1-ZNF117, ZNF117 Nonsynonymous SNV H187Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 310351 chr16 89346960 89346960 G A rs370272709 ANKRD11 Nonsynonymous SNV A1997V 0.002 0 0 0 2 0 0 0 0 0 0 0 9.41 310352 chr3 49700601 49700601 C T rs761647159 BSN Synonymous SNV H3670H 0 0.003 0 0 0 1 0 0 0 0 0 0 7.824 310353 chr7 6550644 6550644 C G GRID2IP Nonsynonymous SNV E484Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.07 310354 chr3 51746569 51746569 C G rs768316978 GRM2 Synonymous SNV R177R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.875 310355 chr17 10301882 10301885 CTTC - MYH8 E1352Sfs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 310356 chr17 10399611 10399611 G A rs201002878 MYH1 Nonsynonymous SNV R1638C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 310357 chr3 52475376 52475376 G T rs1040831455 SEMA3G Nonsynonymous SNV D239E 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 310358 chr7 81679904 81679904 T A rs79030053 CACNA2D1 Nonsynonymous SNV N307I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.924 310359 chr5 157240156 157240156 C A CLINT1 Nonsynonymous SNV R144S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 310360 chr7 93101796 93101796 T - rs750465244 CALCR K107Rfs*36 0 0 0.003 0 0 0 0 1 0 0 0 0 310361 chr3 69813078 69813078 G A rs373660547 MITF Nonsynonymous SNV C29Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.899 310362 chr5 41009439 41009439 T C rs376945789 MROH2B Synonymous SNV L1121L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.553 310363 chr3 9426236 9426236 G A rs759165825 THUMPD3 Nonsynonymous SNV R463Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 310364 chr5 169310102 169310102 G A rs140573944 INSYN2B Synonymous SNV H267H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 310365 chr5 52235713 52235715 CTT - rs756089165 ITGA1 S1077del 0.001 0 0 0 1 0 0 0 0 0 0 0 310366 chr17 5338221 5338221 G A rs754589878 C1QBP Nonsynonymous SNV S150L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 310367 chr17 29258948 29258948 G A rs376868292 ADAP2 Nonsynonymous SNV R126Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 310368 chr8 110460416 110460416 T C rs200826919 PKHD1L1 Nonsynonymous SNV F1941L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.073 310369 chr8 11058579 11058579 C A XKR6 Synonymous SNV G90G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 310370 chr17 7814172 7814172 C T rs977129868 CHD3 Nonsynonymous SNV P1887L 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 310371 chr10 77162770 77162770 T G rs7090298 ZNF503-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 310372 chr5 178585773 178585773 A G rs150079799 ADAMTS2 Synonymous SNV D361D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.547 310373 chr10 87362285 87362285 G A rs1025934063 GRID1 Synonymous SNV L925L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.903 310374 chr2 70904012 70904012 T G rs145174076 ADD2 Synonymous SNV R519R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.028 310375 chr10 88703444 88703444 G A rs751062543 MMRN2 Nonsynonymous SNV P366L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 310376 chr17 37819153 37819153 C T rs188080925 STARD3 Nonsynonymous SNV R426W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 310377 chr10 89603702 89603702 C A rs561015337 CFL1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.713 310378 chr10 94591097 94591097 C A rs143738722 EXOC6 Nonsynonymous SNV A7E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.849 310379 chr4 114682192 114682192 C A rs555584508 CAMK2D Synonymous SNV T11T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.06 310380 chr2 72742198 72742198 A G EXOC6B Synonymous SNV L212L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.232 310381 chr8 133829690 133829690 C G PHF20L1 Stop gain Y467X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 310382 chr2 87140992 87140992 A T rs371790976 RGPD2 Nonsynonymous SNV Y7F 0 0 0 1 0 0 0.003 0 0 0 0 0 2.157 310383 chr4 146065568 146065568 A G rs775034922 OTUD4 Nonsynonymous SNV S416P 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 310384 chr5 89943547 89943547 T C rs183447491 ADGRV1 Synonymous SNV D1085D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.022 310385 chr4 146791503 146791503 G A ZNF827 Synonymous SNV A625A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.657 310386 chr5 90103540 90103540 C T rs371117165 ADGRV1 Synonymous SNV G4986G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.678 310387 chr8 144996740 144996740 C T rs782611923 PLEC Nonsynonymous SNV A2439T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23 310388 chr5 60840057 60840057 T C rs376269468 ZSWIM6 Synonymous SNV I1187I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.095 310389 chr5 59982848 59982848 A G rs147793543 DEPDC1B Synonymous SNV I85I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 310390 chr11 10506371 10506386 CCACCCTCCTCCACTG - AMPD3 H40Pfs*55 0 0 0.003 0 0 0 0 1 0 0 0 0 310391 chr17 44952507 44952507 C T rs368158766 WNT9B Synonymous SNV A125A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 310392 chr5 71739904 71739904 - T ZNF366 Frameshift insertion S639Efs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 310393 chr3 110791355 110791355 C G rs181883527 NECTIN3 Nonsynonymous SNV P30R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.057 310394 chr11 111952743 111952743 G C rs150961853 NKAPD1 Nonsynonymous SNV E120Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 310395 chr17 48174888 48174888 C A rs35550088 PDK2 Synonymous SNV R10R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.9 310396 chr17 48262977 48262977 A G rs41316725 COL1A1 Synonymous SNV I1427I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.413 310397 chr17 48263274 48263274 C T rs41316723 COL1A1 Synonymous SNV K1371K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.72 310398 chr6 112397659 112397659 G A TUBE1 Nonsynonymous SNV P168S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 310399 chr8 21550822 21550822 G T GFRA2 Nonsynonymous SNV L322M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.37 310400 chr8 21957331 21957331 C G FAM160B2 Nonsynonymous SNV P422R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 310401 chr4 187078845 187078845 C T FAM149A Nonsynonymous SNV S234F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 310402 chr11 121403253 121403253 C T rs760292712 SORL1 Synonymous SNV N559N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.842 310403 chr4 2695560 2695560 G A rs200177831 FAM193A Synonymous SNV P726P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.902 310404 chr11 124742897 124742897 G A rs556647372 ROBO3 Nonsynonymous SNV R483Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.918 310405 chr4 3521838 3521838 G A rs761486612 LRPAP1 Synonymous SNV D144D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.19 310406 chr6 106975256 106975256 C G CRYBG1 Nonsynonymous SNV L1089V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 310407 chr11 1256329 1256329 G A rs1057027215 MUC5B Nonsynonymous SNV R882Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 310408 chr6 109770082 109770082 C T rs769430523 MICAL1 Nonsynonymous SNV G420E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 310409 chr17 40725148 40725148 G A PSMC3IP Nonsynonymous SNV P129S 0 0 0 1 0 0 0.003 0 0 0 0 0 26 310410 chr4 39449062 39449062 T C rs17618262 KLB Nonsynonymous SNV Y906H 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 25.8 310411 chr8 67679738 67679738 T C rs981226516 PTTG3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.86 310412 chr8 73142439 73142439 G T LOC392232 0 0 0.003 0 0 0 0 1 0 0 0 0 5.259 310413 chr6 114383926 114383926 G A rs753747446 HS3ST5 Synonymous SNV V28V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 310414 chr6 116784496 116784496 T A rs201027729 CALHM6 Nonsynonymous SNV F20L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 310415 chr17 74076012 74076012 C T rs200681257 ZACN Nonsynonymous SNV P104L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 310416 chr4 52943167 52943167 G A rs772489820 SPATA18 Synonymous SNV K102K 0 0.003 0 0 0 1 0 0 0 0 0 0 17.01 310417 chr8 91937846 91937846 - CTC rs753658301 NECAB1 S194_P195insS 0 0 0.003 0 0 0 0 1 0 0 0 0 310418 chr4 55140771 55140771 C T rs748519030 PDGFRA Synonymous SNV V544V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.87 310419 chr17 76187096 76187096 G C AFMID Nonsynonymous SNV G37R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.177 310420 chr11 1861775 1861775 A G rs779806810 TNNI2 Nonsynonymous SNV I25M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 310421 chr3 151156090 151156090 C T rs201909176 IGSF10 Nonsynonymous SNV D114N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 310422 chr17 77769162 77769162 G A rs767309502 CBX8 Nonsynonymous SNV R148W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 310423 chr3 155301328 155301328 C T rs753050302 PLCH1 Nonsynonymous SNV S223N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.74 310424 chr4 70865506 70865506 C A rs750868144 STATH Nonsynonymous SNV R28S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.185 310425 chr3 164709149 164709149 T G SI Synonymous SNV T1700T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.519 310426 chr11 27400308 27400308 T C rs75496259 LGR4 Nonsynonymous SNV T303A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 310427 chr16 71885478 71885478 T G ATXN1L Nonsynonymous SNV V612G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 310428 chr16 71885480 71885480 T G ATXN1L Nonsynonymous SNV L613V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.807 310429 chr16 71885481 71885481 T G rs1004805775 ATXN1L Nonsynonymous SNV L613W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 310430 chr9 116151287 116151287 G A rs778812183 ALAD Synonymous SNV L293L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 310431 chr3 183910926 183910926 G A rs148358991 ABCF3 Nonsynonymous SNV R590Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 310432 chr9 125330654 125330654 C T rs149595522 OR1L8 Nonsynonymous SNV V35M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.03 310433 chr3 184062391 184062391 C T rs1026076390 FAM131A Nonsynonymous SNV S160L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 310434 chr18 7008541 7008541 T C rs761632840 LAMA1 Synonymous SNV A1356A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.333 310435 chr6 160543233 160543233 G A rs371964408 SLC22A1 Nonsynonymous SNV R89K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.236 310436 chr16 84027908 84027908 C G rs781071263 NECAB2 Nonsynonymous SNV Q117E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.09 310437 chr17 72998178 72998178 C T rs540497526 CDR2L Nonsynonymous SNV R121C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 310438 chr11 47365113 47365113 C T rs772073491 MYBPC3 Nonsynonymous SNV V385M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 310439 chr9 130289592 130289592 C T rs143489395 NIBAN2 Nonsynonymous SNV D53N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 310440 chr3 190282123 190282123 C G IL1RAP Nonsynonymous SNV I15M 0 0 0 1 0 0 0.003 0 0 0 0 0 13.8 310441 chr17 73235532 73235532 C G rs375885510 GGA3 Nonsynonymous SNV Q446H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 310442 chr9 13110707 13110707 T C rs761999036 MPDZ Synonymous SNV T1857T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.272 310443 chr6 170871046 170871046 - CAGCAGCAGCAG TBP Q75_A76insQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 310444 chr18 21649233 21649233 C T TTC39C Nonsynonymous SNV S153L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 310445 chr5 1038447 1038458 CACCACCACCAC - NKD2 H444_H447del 0 0.003 0 0 0 1 0 0 0 0 0 0 310446 chr17 76565533 76565533 G T rs368753667 DNAH17 Nonsynonymous SNV S374Y 0 0 0 1 0 0 0.003 0 0 0 0 0 13.87 310447 chr16 89017292 89017292 T C rs12921887 LOC100129697 Nonsynonymous SNV S256P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.428 310448 chr17 77111695 77111695 C T rs375309858 RBFOX3 Nonsynonymous SNV G35S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 31 310449 chr9 136899902 136899902 C T rs139511636 BRD3 Synonymous SNV Q662Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 310450 chr17 78318730 78318730 C T rs369737066 RNF213 Stop gain Q2199X 0 0 0 1 0 0 0.003 0 0 0 0 0 40 310451 chr9 139266519 139266519 G A rs35051231 CARD9 Synonymous SNV Y4Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.413 310452 chr17 79092225 79092225 C T rs749063231 AATK Nonsynonymous SNV G1265R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 310453 chr17 79094046 79094048 CTT - rs757851302 AATK K1127del 0.002 0 0 0 2 0 0 0 0 0 0 0 310454 chr5 132097215 132097215 G C SEPTIN8 Synonymous SNV L299L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.274 310455 chr11 55371464 55371464 C T rs146220981 OR4C11 Nonsynonymous SNV R129H 0 0 0.007 0 0 0 0 2 0 0 1 0 0.006 310456 chr17 79180659 79180659 G A rs137958018 CEP131 Nonsynonymous SNV R134W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 310457 chr17 80008288 80008288 C A RFNG Nonsynonymous SNV G188V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 310458 chr17 80008319 80008319 G A RFNG Nonsynonymous SNV H178Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 310459 chr9 139935154 139935154 C T rs138330772 NPDC1 Nonsynonymous SNV A198T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 310460 chr18 7774190 7774190 T A rs35224276 PTPRM Nonsynonymous SNV S39R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign 23 310461 chr9 34017072 34017072 C T rs147991027 UBAP2 Synonymous SNV T25T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 310462 chr9 35563364 35563364 G A rs755602578 FAM166B Nonsynonymous SNV L29F 0 0 0.003 0 0 0 0 1 0 0 0 0 15 310463 chr6 54791172 54791172 A G FAM83B Nonsynonymous SNV I150V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 310464 chr19 1581231 1581231 C T rs374667549 MBD3 Synonymous SNV S179S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 310465 chr18 32843984 32843984 A C rs777649033 ZSCAN30 Nonsynonymous SNV H111Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.758 310466 chr6 64422021 64422021 G T rs202018648 PHF3 Nonsynonymous SNV V1425L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 310467 chr19 2403186 2403186 G A rs372062748 TMPRSS9 Synonymous SNV A187A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.862 310468 chr19 3589474 3589474 G A rs374129877 GIPC3 Nonsynonymous SNV C209Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.9 310469 chr19 3738661 3738661 A G rs61729584 TJP3 Nonsynonymous SNV I465V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.871 310470 chr19 3751269 3751269 C T rs201978209 APBA3 Nonsynonymous SNV R525H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 310471 chr5 159821451 159821451 T A rs985561502 ZBED8 Nonsynonymous SNV E349D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 310472 chr11 63676430 63676430 G C MARK2 Synonymous SNV T617T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.404 310473 chr5 176315333 176315333 C G HK3 Nonsynonymous SNV R435T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 310474 chr5 178549695 178549695 T G rs371013989 ADAMTS2 Nonsynonymous SNV Q1013P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 12.38 310475 chrX 149944698 149944698 C T rs150802524 CD99L2 Nonsynonymous SNV V129I 0 0 0.007 0 0 0 0 2 0 0 1 0 27.9 310476 chr5 179318539 179318539 C T rs201568253 TBC1D9B Nonsynonymous SNV R295Q 0 0.003 0 0 0 1 0 0 0 0 0 0 33 310477 chrX 153039781 153039781 C T rs782207992 PLXNB3 Synonymous SNV S1220S 0 0 0.007 0 0 0 0 2 0 0 1 0 7.9 310478 chrX 47061606 47061606 G A rs782554153 UBA1 Nonsynonymous SNV R288H 0 0 0.007 0 0 0 0 2 0 0 1 0 25.4 310479 chr11 74208387 74208387 G A LOC100287896 Nonsynonymous SNV R146H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.464 310480 chr11 74914369 74914369 G A SLCO2B1 Nonsynonymous SNV V472M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 310481 chr5 35641717 35641717 G A rs71617724 SPEF2 Nonsynonymous SNV E116K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 310482 chr5 36241718 36241718 G C NADK2 Synonymous SNV R61R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.323 310483 chr17 37358595 37358595 A G RPL19 Synonymous SNV K46K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.728 310484 chr5 37328495 37328495 T C rs61756069 NUP155 Nonsynonymous SNV Y614C 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 310485 chr19 2416612 2416612 G A TMPRSS9 Nonsynonymous SNV G574R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.03 310486 chr5 45695986 45695986 - CCGCCGCCA rs776945978 HCN1 G74_E75insGGG 0 0.003 0 0 0 1 0 0 0 0 0 0 310487 chr10 105048317 105048317 C G INA Nonsynonymous SNV S464C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 310488 chr5 5464237 5464237 A C rs10065646 ICE1 Nonsynonymous SNV Q1597P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.455 310489 chr5 6449325 6449325 A G rs887717291 UBE2QL1 Nonsynonymous SNV M107V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.12 310490 chr11 93454893 93454893 A G SCARNA9 0 0 0.003 0 0 0 0 1 0 0 0 0 1.347 310491 chr7 150655267 150655267 T C KCNH2 Nonsynonymous SNV S266G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 310492 chr19 5622643 5622643 C T SAFB2 Synonymous SNV R28R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 310493 chr7 128490506 128490506 C T rs377214486 FLNC Synonymous SNV I1756I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.11 310494 chr7 129910603 129910603 T C rs781593522 CPA2 Nonsynonymous SNV F120S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 310495 chr19 13996846 13996846 G A rs780340923 C19orf57 Nonsynonymous SNV P446L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 310496 chr12 105420500 105420500 G A rs574294340 ALDH1L2 Stop gain R847X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 310497 chr12 108137034 108137034 A G PRDM4 Nonsynonymous SNV F474S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 310498 chr10 134421428 134421428 C T INPP5A Synonymous SNV L29L 0 0 0.007 0 0 0 0 2 0 0 0 0 13.02 310499 chr10 135020823 135020823 G A rs201351562 KNDC1 Synonymous SNV T1254T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.79 310500 chr19 15918201 15918201 A G rs201868341 OR10H1 Nonsynonymous SNV L216P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 310501 chr5 93076416 93076416 C A rs953833530 POU5F2 Nonsynonymous SNV C285F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.078 310502 chr10 19641160 19641160 C - rs531574019 MALRD1 T1460Qfs*46 0 0 0.003 0 0 0 0 1 0 0 0 0 310503 chr7 149518758 149518758 C T rs747179924 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 310504 chr19 9075321 9075321 G A rs144857766 MUC16 Nonsynonymous SNV A4042V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.752 310505 chr19 9075351 9075351 G C MUC16 Nonsynonymous SNV T4032R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 310506 chr10 3176691 3176691 C A rs770229512 PFKP Nonsynonymous SNV P413Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 310507 chr19 18273305 18273305 G A rs146970612 PIK3R2 Synonymous SNV T366T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 310508 chr19 10132402 10132402 C A rs142611938 RDH8 Nonsynonymous SNV P305T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 310509 chr10 44140306 44140306 G A rs151303183 ZNF32-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 310510 chr7 157903599 157903599 C T rs145460608 PTPRN2 Nonsynonymous SNV R484H 0.002 0 0 0 2 0 0 0 0 0 0 0 27.1 310511 chr7 158738347 158738347 G A rs374045806 WDR60 Synonymous SNV A835A 0.002 0 0 0 2 0 0 0 0 0 0 0 8.992 310512 chr12 14943517 14943517 C T rs7971396 WBP11 Synonymous SNV P394P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.28 310513 chr10 61413915 61413915 T C rs375117848 SLC16A9 Nonsynonymous SNV Y203C 0 0 0.007 0 0 0 0 2 0 0 0 0 14.87 310514 chr7 2962847 2962847 C T rs145745268 CARD11 Synonymous SNV A687A 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 14.51 310515 chr19 14067316 14067316 G A rs200021189 DCAF15 Nonsynonymous SNV V256I 0.003 0 0 1 3 0 0.003 0 0 0 0 0 14.6 310516 chr12 27647254 27647254 - A SMCO2 Stop gain Y208* 0 0 0.003 0 0 0 0 1 0 0 0 0 310517 chr12 27654964 27654964 G C SMCO2 Synonymous SNV L314L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 310518 chr10 71658493 71658493 C T rs770671266 COL13A1 Nonsynonymous SNV P195L 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 310519 chr12 29617642 29617642 C T rs547950611 OVCH1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 310520 chr10 72511952 72511952 C T rs756413236 ADAMTS14 Nonsynonymous SNV R900C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 310521 chr19 17004057 17004057 C T rs766545942 CPAMD8 Synonymous SNV P1840P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 310522 chr19 36636913 36636913 G C CAPNS1 Synonymous SNV G75G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.709 310523 chr10 73377084 73377084 C T rs141247813 CDH23 Synonymous SNV A356A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 16.66 310524 chr12 32996171 32996171 T C PKP2 Synonymous SNV G485G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 310525 chr19 16611770 16611770 C T C19orf44 Nonsynonymous SNV T56I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.908 310526 chr12 42836510 42836510 C A rs770457731 PPHLN1 Synonymous SNV T244T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.01 310527 chr4 6718273 6718273 - TCGTCA rs773805871 BLOC1S4 V114_S115insIV 0 0 0 1 0 0 0.003 0 0 0 0 0 310528 chr12 46254703 46254703 C T rs763174624 ARID2 Synonymous SNV N1631N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 310529 chr12 46322507 46322507 T C rs745475488 SCAF11 Nonsynonymous SNV N326S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 310530 chr19 17322742 17322742 A C rs190936398 MYO9B Nonsynonymous SNV T2033P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.771 310531 chr19 38385234 38385234 C T WDR87 Nonsynonymous SNV R370Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 310532 chr19 38572805 38572805 C T rs766428011 SIPA1L3 Synonymous SNV R200R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 310533 chr19 17918780 17918780 G C rs748713443 B3GNT3 Nonsynonymous SNV R55P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.029 310534 chr12 48736957 48736957 G A rs758519757 ZNF641 Synonymous SNV H349H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.097 310535 chr12 50188892 50188892 G A rs201783356 NCKAP5L Synonymous SNV I917I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 310536 chr12 50500647 50500647 C T rs771141368 GPD1 Nonsynonymous SNV R164C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 310537 chr19 19458096 19458096 A G rs545598824 MAU2 Nonsynonymous SNV N410S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.17 310538 chr8 103324616 103324616 G A UBR5 Nonsynonymous SNV S702F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 310539 chr19 42791320 42791320 C T rs754556504 CIC Nonsynonymous SNV T127M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 310540 chr19 30503263 30503263 A G rs201902251 URI1 Nonsynonymous SNV N399S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 310541 chr6 17626210 17626210 C T rs201275623 NUP153 Nonsynonymous SNV A1202T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.23 310542 chr12 53512999 53512999 G A rs370652060 SOAT2 Nonsynonymous SNV R334H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310543 chr6 26056237 26056245 CTTCTTGGG - rs749190253 H1-2 P138_K140del 0 0.003 0 0 0 1 0 0 0 0 0 0 310544 chr19 45716357 45716357 C T rs200836902 EXOC3L2 Synonymous SNV P400P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.78 310545 chr7 79846764 79846764 A T rs61749901 GNAI1 Synonymous SNV T288T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 310546 chr6 26408160 26408160 C A BTN3A1 Nonsynonymous SNV T180K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.97 310547 chr7 82784476 82784476 G A rs762087233 PCLO Nonsynonymous SNV P494L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 310548 chr18 25568584 25568584 C T rs201042909 CDH2 Nonsynonymous SNV V518M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 310549 chr19 48578088 48578088 G A rs773167949 PLA2G4C Synonymous SNV L324L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 310550 chr7 98553870 98553870 C T rs368925736 TRRAP Synonymous SNV A1988A 0.002 0 0 0 2 0 0 0 0 0 0 0 19.28 310551 chr7 99689313 99689313 C A rs752838502 COPS6 Synonymous SNV I295I 0.003 0 0 0 3 0 0 0 0 0 0 0 11.01 310552 chr12 69966018 69966018 T C FRS2 Nonsynonymous SNV V178A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 310553 chr6 37605193 37605193 G A MDGA1 Nonsynonymous SNV P940L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.304 310554 chr11 11951647 11951647 T C USP47 Synonymous SNV Y457Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.814 310555 chr11 120041006 120041006 T G LOC107984399 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 310556 chr11 121016586 121016586 C T rs368634844 TECTA Nonsynonymous SNV A1289V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.76 310557 chr8 11831479 11831479 T C rs972441869 DEFB136 Synonymous SNV Q68Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 310558 chr8 124138863 124138863 T C rs200373362 TBC1D31 Nonsynonymous SNV V107A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 310559 chr19 52468327 52468327 G A rs115151289 ZNF350 Nonsynonymous SNV A460V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.389 310560 chr19 52876486 52876486 T C rs769200168 ZNF880 Synonymous SNV F45F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 310561 chr11 126212171 126212171 C T rs1031043840 GSEC 0 0 0.007 0 0 0 0 2 0 0 0 0 6.012 310562 chr8 142367662 142367662 C G rs751807193 GPR20 Nonsynonymous SNV R121P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 310563 chr13 103459885 103459885 C T rs142345845 BIVM, BIVM-ERCC5 Nonsynonymous SNV R90C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 310564 chr13 110435965 110435965 G T rs775792124 IRS2 Synonymous SNV A812A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 310565 chr13 111109670 111109670 - CCCCAGGCGTCCGTGGGGCTCATGCCCTGCC rs756781119 COL4A2-AS2 Frameshift insertion D134Efs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 310566 chr11 15247307 15247307 C A rs61748861 INSC Nonsynonymous SNV A326D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 310567 chr11 15247308 15247308 C A rs185956954 INSC Synonymous SNV A326A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 310568 chr11 15247310 15247310 T G rs61748860 INSC Nonsynonymous SNV I327S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 310569 chr13 111160306 111160306 G A rs368863212 COL4A2 Nonsynonymous SNV R1540Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28 310570 chr5 140730717 140730717 T G rs781775496 PCDHGB1 Nonsynonymous SNV I297S 0 0 0 1 0 0 0.003 0 0 0 0 0 25 310571 chr8 144662687 144662687 C T rs766428831 EEF1D Nonsynonymous SNV D177N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 310572 chr8 144873856 144873856 T G SCRIB Synonymous SNV R1584R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 310573 chr19 54723059 54723059 C T rs187929331 LILRB3 Synonymous SNV L455L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.096 310574 chr13 25480553 25480553 G A rs367566036 CENPJ Synonymous SNV P541P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.004 310575 chr13 28143280 28143280 A C rs780607318 LNX2 Nonsynonymous SNV L181V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 310576 chr13 29855925 29855925 C T MTUS2 Nonsynonymous SNV A910V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 310577 chr8 144943454 144943454 G A rs374929678 EPPK1 Nonsynonymous SNV A1323V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 310578 chr11 2424611 2424612 AG - rs764177223 TSSC4 R250Gfs*19 0 0 0.007 0 0 0 0 2 0 0 0 0 310579 chr11 2439033 2439033 G T rs138197888 TRPM5 Nonsynonymous SNV H311Q 0 0.003 0.007 0 0 1 0 2 0 0 0 0 0.004 310580 chr8 144994331 144994331 G A rs200643300 PLEC Nonsynonymous SNV R3206W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 310581 chr11 25071628 25071628 G A LUZP2 Synonymous SNV E228E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 310582 chr19 55690528 55690528 T G SYT5 Synonymous SNV R16R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.118 310583 chr13 37678785 37678785 G A rs763304863 CSNK1A1L Synonymous SNV D203D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.706 310584 chr13 37679143 37679143 T C rs111291624 CSNK1A1L Nonsynonymous SNV D84G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.21 310585 chr8 145659530 145659530 C T rs782382088 TONSL Nonsynonymous SNV R1073Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 310586 chr13 52126771 52126771 A G rs183065075 MIR4703 0 0 0.003 0 0 0 0 1 0 0 0 0 4.99 310587 chr13 72147577 72147577 G A DACH1 Nonsynonymous SNV L419F 0 0 0.007 0 0 0 0 2 0 0 0 0 18.63 310588 chr11 44626953 44626953 G A rs755612375 CD82 Nonsynonymous SNV A104T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.517 310589 chr19 51770669 51770669 G A rs369648100 SIGLECL1 Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.361 310590 chr8 25319624 25319624 G A rs755866658 CDCA2 Nonsynonymous SNV R81Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 310591 chr5 167891741 167891741 C T rs112405537 WWC1 Nonsynonymous SNV S981L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 310592 chr11 47767677 47767677 T C FNBP4 Synonymous SNV Q394Q 0 0 0.007 0 0 0 0 2 0 0 0 0 2.015 310593 chr19 51890466 51890466 C T rs201303796 LIM2 Nonsynonymous SNV G78R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 310594 chr14 103406208 103406208 G A rs745550984 CDC42BPB Synonymous SNV F1556F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 310595 chr19 58189667 58189667 G C ZSCAN4 Nonsynonymous SNV E232D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 310596 chr19 6822269 6822269 G A VAV1 Nonsynonymous SNV V163M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 310597 chr8 2975920 2975920 C T CSMD1 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 310598 chr14 21109203 21109203 G T rs139351024 OR6S1 Synonymous SNV I216I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 310599 chr20 3090846 3090846 G A rs760021720 UBOX5 Nonsynonymous SNV P457L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 310600 chr14 23848562 23848562 C T rs140631314 CMTM5 Nonsynonymous SNV R61W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 310601 chr7 117251703 117251703 C T rs202179988 CFTR Nonsynonymous SNV R1070W 0 0.003 0 0 0 1 0 0 0 0 0 0 drug response 35 310602 chr20 10603579 10603579 G A rs73896599 SLX4IP Nonsynonymous SNV G260E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 310603 chr19 56028644 56028644 A G rs918295188 SSC5D Nonsynonymous SNV R1001G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.487 310604 chr5 40934457 40934457 C A rs1048387028 C7 Nonsynonymous SNV Q57K 0 0 0 1 0 0 0.003 0 0 0 0 0 26 310605 chr14 28142301 28142301 T C rs550993010 LOC728755 0 0 0.003 0 0 0 0 1 0 0 0 0 1.073 310606 chr9 102590525 102590527 CAA - rs573092297 NR4A3 N68del 0.001 0 0 0 1 0 0 0 0 0 0 0 310607 chr14 50101178 50101178 G C DNAAF2 Stop gain Y230X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310608 chr7 137612996 137612996 C T rs146953741 CREB3L2 Synonymous SNV P73P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.14 310609 chr20 31500642 31500642 G A EFCAB8 Nonsynonymous SNV G610R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 310610 chr9 100367919 100367919 C T rs747917068 TSTD2 Nonsynonymous SNV R320Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 310611 chr14 52535707 52535707 C G rs754487682 NID2 Nonsynonymous SNV E2D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.398 310612 chr9 100672402 100672402 C T rs768073644 TRMO Synonymous SNV R156R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 310613 chr7 141920574 141920574 G A MGAM2 Nonsynonymous SNV S2088N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.62 310614 chr20 33588173 33588173 G A MYH7B Nonsynonymous SNV R1662Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 310615 chr20 1286354 1286354 C T rs6131323 SNPH Nonsynonymous SNV R381C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 310616 chr14 65210183 65210183 A G rs762690222 PLEKHG3 Nonsynonymous SNV N1141S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 310617 chr20 2776413 2776413 G A rs543432133 CPXM1 Nonsynonymous SNV R518C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 310618 chr14 73220054 73220054 T C rs950864773 DPF3 Synonymous SNV T73T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.393 310619 chr14 74062207 74062207 C T rs146020227 ACOT4 Nonsynonymous SNV A372V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 310620 chr9 117168778 117168778 A G WHRN Nonsynonymous SNV V347A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 310621 chr7 150939672 150939672 T C rs750859453 SMARCD3 Synonymous SNV R158R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.334 310622 chr20 49366229 49366229 C T rs61730982 PARD6B Nonsynonymous SNV T108M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 27.8 310623 chr11 60620647 60620647 G T PTGDR2 Stop gain Y183X 0 0 0.007 0 0 0 0 2 0 0 0 0 36 310624 chr14 76238106 76238106 C G rs777884219 TTLL5 Nonsynonymous SNV A682G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 310625 chr11 62285646 62285646 T C rs11231126 AHNAK Nonsynonymous SNV T5415A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 310626 chr7 158889542 158889542 C T rs114052162 VIPR2 Nonsynonymous SNV R98Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.225 310627 chr20 57266236 57266236 C T rs752912121 STX16-NPEPL1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.066 310628 chr7 18868792 18868792 T C rs747983373 HDAC9 Synonymous SNV F733F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 310629 chr14 86088755 86088755 C T FLRT2 Synonymous SNV L299L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.158 310630 chr14 91780444 91780444 C T rs767670216 CCDC88C Synonymous SNV S572S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 310631 chr19 17611663 17611663 C T rs150502627 SLC27A1 Synonymous SNV A538A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.2 310632 chr14 93303752 93303752 C A GOLGA5 Synonymous SNV L691L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 310633 chr9 130211600 130211600 G A rs750217778 RPL12 Synonymous SNV A84A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 310634 chr11 64005060 64005060 C T rs778427134 VEGFB Nonsynonymous SNV R160C 0 0 0.007 0 0 0 0 2 0 0 0 0 21.6 310635 chr19 18001723 18001723 G C rs149937279 SLC5A5 Synonymous SNV P560P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.751 310636 chr19 18047271 18047271 G A rs148377519 CCDC124 Synonymous SNV A14A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 310637 chr11 64428301 64428301 G A rs778853068 NRXN2 Synonymous SNV G672G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 310638 chr11 6461492 6461492 T C rs140581543 HPX Nonsynonymous SNV K80R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.02 310639 chr14 98217835 98217835 C T rs141186253 LINC02312 0 0 0.003 0 0 0 0 1 0 0 0 0 5.729 310640 chr14 98217837 98217837 C T rs147384565 LINC02312 0 0 0.003 0 0 0 0 1 0 0 0 0 1.95 310641 chr11 64895959 64895959 A G rs751274344 SYVN1 Synonymous SNV A582A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 310642 chr20 62587726 62587726 G A UCKL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.919 310643 chr11 67074330 67074330 C T rs765145159 SSH3 Nonsynonymous SNV R121W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 310644 chr20 40141615 40141615 T C rs750245262 CHD6 Nonsynonymous SNV Q241R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 310645 chr21 30698774 30698774 T C rs536766184 BACH1 Nonsynonymous SNV M210T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 310646 chr7 44733543 44733543 C T rs766321374 OGDH Synonymous SNV Y481Y 0 0.003 0 0 0 1 0 0 0 0 0 0 13.2 310647 chr7 44801312 44801312 A G rs948815746 ZMIZ2 Synonymous SNV Q442Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.858 310648 chr20 44538235 44538235 G A rs143020139 PLTP Synonymous SNV P47P 0 0 0 1 0 0 0.003 0 0 0 0 0 4.55 310649 chr15 41689187 41689187 A G NDUFAF1 Nonsynonymous SNV L24S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 310650 chr15 41812739 41812739 C T rs762799691 RPAP1 Synonymous SNV L1215L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 310651 chr15 42145976 42145976 C T rs201453418 SPTBN5 Nonsynonymous SNV E3262K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 310652 chr11 71260065 71260065 G A rs201275630 KRTAP5-9 Nonsynonymous SNV R121H 0 0 0.007 0 0 0 0 2 0 0 0 0 14.03 310653 chr15 44859744 44859744 C T rs144165094 SPG11 Nonsynonymous SNV R2098H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23 310654 chr15 49064751 49064751 T G CEP152 Nonsynonymous SNV K572T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 310655 chr15 51975615 51975615 G A rs142789927 SCG3 Synonymous SNV L127L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 310656 chr11 8148387 8148387 G A rs767793485 RIC3 Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.008 310657 chr15 57837794 57837794 C T rs774608438 CGNL1 Nonsynonymous SNV R1169W 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 310658 chr7 73511472 73511472 C T rs141521880 LIMK1 Synonymous SNV I84I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.98 310659 chr20 62203680 62203680 G T rs750125276 HELZ2 Nonsynonymous SNV P20H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 310660 chr7 75614999 75614999 G A rs782697310 POR Nonsynonymous SNV E501K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.1 310661 chr11 9116871 9116871 T C rs928379329 KRT8P41 0 0 0.007 0 0 0 0 2 0 0 0 0 4.457 310662 chr9 33468087 33468087 C T rs34911447 NOL6 Synonymous SNV G455G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 310663 chr21 47738094 47738094 G A rs148426190 C21orf58 Synonymous SNV T47T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.566 310664 chr9 34611129 34611129 T G rs367745452 RPP25L Synonymous SNV V55V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.084 310665 chr11 94532929 94532929 C T AMOTL1 Synonymous SNV Y141Y 0 0 0.007 0 0 0 0 2 0 0 0 0 10.85 310666 chr9 35376165 35376165 G T rs762517248 UNC13B Synonymous SNV R133R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.28 310667 chr21 47831535 47831535 G A rs375046076 PCNT Nonsynonymous SNV E1732K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.88 310668 chr7 89861729 89861729 G A STEAP2 Nonsynonymous SNV E422K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 310669 chr12 104256056 104256056 G A TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.749 310670 chr21 35899022 35899022 C T rs201739055 RCAN1 Nonsynonymous SNV S9N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.49 310671 chr7 98988663 98988663 C T rs117071116 ARPC1B Synonymous SNV R216R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.65 310672 chr21 37626147 37626147 G A rs149893531 DOP1B Synonymous SNV T1733T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.07 310673 chr22 21140354 21140354 T A SERPIND1 Nonsynonymous SNV L409Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 310674 chr9 738418 738418 A G rs142088222 KANK1 Nonsynonymous SNV N900S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 310675 chr15 79750594 79750594 G A rs774871672 MINAR1 Nonsynonymous SNV S702N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.655 310676 chrX 152663149 152663149 C T PNMA6E Nonsynonymous SNV A387T 0.003 0 0 0 3 0 0 0 1 0 0 0 7.448 310677 chr15 83926569 83926569 G A rs774966498 BNC1 Synonymous SNV S863S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.039 310678 chr9 82188258 82188258 C A rs773909581 TLE4 Synonymous SNV V4V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 310679 chr22 24472130 24472130 C T rs41310246 CABIN1 Nonsynonymous SNV T832M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 310680 chr8 107718924 107718924 G C OXR1 Nonsynonymous SNV G385A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 310681 chr12 118474166 118474166 G A rs202169586 WSB2 Synonymous SNV T60T 0 0 0.007 0 0 0 0 2 0 0 0 0 15.53 310682 chr15 86278301 86278301 A G AKAP13 Nonsynonymous SNV D1075G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.047 310683 chr22 26348317 26348317 C G MYO18B Nonsynonymous SNV S1967R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 310684 chr8 113301616 113301616 A T CSMD3 Nonsynonymous SNV S2842R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 310685 chr6 28253451 28253451 C T rs749025379 PGBD1 Stop gain Q174X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 310686 chr12 122437640 122437640 G A rs776727712 WDR66 Nonsynonymous SNV E1009K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 310687 chrX 40594847 40594847 G A rs771093342 MED14OS Synonymous SNV P49P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.759 310688 chr6 33768931 33768931 G A rs140882390 MLN Nonsynonymous SNV R4C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 310689 chr12 123444667 123444667 C T rs777134549 ABCB9 Nonsynonymous SNV R39H 0 0 0.007 0 0 0 0 2 0 0 0 0 25.1 310690 chr15 90784919 90784919 G A rs142135462 GDPGP1 Nonsynonymous SNV R260H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.414 310691 chr19 49422359 49422359 C T NUCB1 Nonsynonymous SNV R297W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 310692 chr12 130830401 130830401 C T rs143665312 PIWIL1 Synonymous SNV D98D 0 0 0.007 0 0 0 0 2 0 0 0 0 12.91 310693 chr6 39311525 39311525 G A rs747451614 KIF6 Synonymous SNV I247I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 310694 chr22 38130446 38130446 G A rs182816010 TRIOBP Nonsynonymous SNV R1368Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.98 310695 chr22 20920816 20920816 - CAG MED15 Q191_A192insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 310696 chr16 1259140 1259140 G A rs556556052 CACNA1H Nonsynonymous SNV G1158S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.515 310697 chr8 144887416 144887416 G A rs752444859 SCRIB Synonymous SNV L846L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.495 310698 chr16 20970615 20970615 T C DNAH3 Nonsynonymous SNV K3525R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.764 310699 chr8 144943831 144943831 G A rs368852781 EPPK1 Synonymous SNV P1197P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.103 310700 chr12 40677813 40677813 G T rs35173587 LRRK2 Nonsynonymous SNV R793M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25 310701 chr16 24801677 24801677 G T TNRC6A Nonsynonymous SNV G572C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 310702 chr12 43777491 43777491 A G ADAMTS20 Nonsynonymous SNV M1556T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 310703 chr6 51908463 51908463 T C rs200511208 PKHD1 Synonymous SNV Q927Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.454 310704 chr8 145738664 145738664 C T rs752611044 RECQL4 Synonymous SNV Q800Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.98 310705 chr8 1496962 1496962 G A DLGAP2 Nonsynonymous SNV D115N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 310706 chr22 50356341 50356341 C T rs370641817 PIM3 Synonymous SNV T207T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.543 310707 chr8 17157690 17157690 A G rs751656595 MTMR7 Nonsynonymous SNV V555A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.552 310708 chr16 30429610 30429610 C T ZNF771 Synonymous SNV C292C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.732 310709 chr22 37425402 37425402 G A rs144710659 MPST Synonymous SNV T247T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.271 310710 chr12 49446826 49446826 C T rs760364650 KMT2D Synonymous SNV A328A 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 13.56 310711 chr10 105218156 105218156 G C rs369608076 CALHM1 Nonsynonymous SNV T118R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 310712 chr1 3417802 3417802 G A rs368222073 MEGF6 Synonymous SNV C795C 0.001 0 0 0 1 0 0 0 0 0 0 0 3.878 310713 chr16 3406876 3406876 C G rs74527639 OR2C1 Synonymous SNV G312G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.059 310714 chr16 3447391 3447391 C T rs76097082 ZSCAN32 Nonsynonymous SNV S56N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.46 310715 chr10 112338422 112338422 T C SMC3 Synonymous SNV G129G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.694 310716 chr12 51752025 51752025 C T rs375728099 GALNT6 Synonymous SNV S463S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 310717 chr16 3658883 3658883 G C rs370378391 SLX4 Nonsynonymous SNV P28R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.888 310718 chr16 4412008 4412008 C G rs79399875 CORO7, CORO7-PAM16 Nonsynonymous SNV G434A 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 310719 chr8 24209523 24209523 G C ADAM28 Synonymous SNV V734V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.247 310720 chr16 49433132 49433132 C T rs547969905 C16orf78 Synonymous SNV V247V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 310721 chr16 55522508 55522508 C T rs545385578 MMP2 Nonsynonymous SNV R246C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 310722 chr12 54394396 54394396 A C rs780841017 HOXC9 Nonsynonymous SNV M142L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 310723 chrX 54982642 54982642 T C PFKFB1 Synonymous SNV L129L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.945 310724 chr16 57017528 57017528 T C rs770051789 CETP Nonsynonymous SNV F418L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 310725 chrX 70356247 70356247 G A MED12 Synonymous SNV V1714V 0.003 0 0 0 3 0 0 0 1 0 0 0 9.607 310726 chr10 124339399 124339399 G A rs184219040 DMBT1 Nonsynonymous SNV A329T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 310727 chr22 50438263 50438263 A T rs764747540 IL17REL Synonymous SNV P156P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 310728 chr1 17294823 17294823 G T rs778009448 CROCC Nonsynonymous SNV E1662D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 310729 chr1 17302225 17302225 T C MFAP2 Nonsynonymous SNV D95G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 310730 chr22 50687801 50687801 G A rs779615440 HDAC10 Nonsynonymous SNV R216W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 310731 chrX 101909580 101909580 A G rs758862151 GPRASP1 Nonsynonymous SNV I247V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 310732 chr22 50721187 50721187 G A rs189387400 PLXNB2 Synonymous SNV R980R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.82 310733 chr8 61767011 61767011 A G CHD7 Nonsynonymous SNV M2289V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.672 310734 chr8 6264045 6264045 T A rs989349040 LOC100287015 0 0.003 0 0 0 1 0 0 0 0 0 0 6.208 310735 chr1 20224140 20224140 A C rs201099048 OTUD3 Synonymous SNV A197A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.991 310736 chr16 72056353 72056353 C A DHODH Nonsynonymous SNV D266E 0 0 0.003 0 0 0 0 1 0 0 0 0 23 310737 chr12 6935405 6935405 C T rs146164363 GPR162 Nonsynonymous SNV R84C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310738 chr10 135012482 135012482 G A rs371445862 KNDC1 Nonsynonymous SNV G824S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.368 310739 chr12 7469871 7469871 C T rs200562081 ACSM4 Synonymous SNV C253C 0 0 0.007 0 0 0 0 2 0 0 0 0 10.01 310740 chr16 77387723 77387723 C T rs758355981 ADAMTS18 Synonymous SNV P335P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.6 310741 chr20 1433183 1433183 T C rs751025952 NSFL1C Nonsynonymous SNV K216R 0.002 0 0 0 2 0 0 0 0 0 0 0 15.74 310742 chr10 15719597 15719597 A G rs539654064 ITGA8 Nonsynonymous SNV W224R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 310743 chr16 84115491 84115491 C T rs756813550 MBTPS1 Nonsynonymous SNV V437M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 310744 chrX 152226189 152226189 G A rs141778950 PNMA3 Synonymous SNV E259E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.6 310745 chrX 32509585 32509585 G C DMD Nonsynonymous SNV R803G 0.002 0 0 0 2 0 0 0 1 0 0 0 24.9 310746 chr12 8808037 8808037 A G rs976841879 MFAP5 Nonsynonymous SNV V37A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 310747 chrX 47436886 47436886 C T rs754541700 SYN1 Synonymous SNV T263T 0 0 0 2 0 0 0.005 0 0 0 0 1 Likely benign 12.73 310748 chr8 99168295 99168295 G A rs747673838 POP1 Nonsynonymous SNV R692Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 310749 chr16 85697157 85697157 G A rs868139791 GSE1 Nonsynonymous SNV E757K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310750 chr12 94694692 94694692 T C rs61733432 PLXNC1 Synonymous SNV P1415P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 3.191 310751 chr9 100963875 100963875 G A rs148540803 TBC1D2 Synonymous SNV H321H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.405 310752 chr12 96728542 96728542 A G rs374813261 CDK17 Synonymous SNV L25L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.405 310753 chr9 101536198 101536198 G A rs78732864 ANKS6 Synonymous SNV A594A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.14 310754 chr13 100617935 100617935 G A ZIC5 Nonsynonymous SNV T563I 0 0 0.003 0 0 0 0 1 0 0 0 0 28 310755 chr20 23017258 23017258 A C rs1006724208 SSTR4 Nonsynonymous SNV I380L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 310756 chr13 103520548 103520548 C T rs373958404 BIVM-ERCC5, ERCC5 Synonymous SNV T873T 0.001 0.003 0.007 0 1 1 0 2 0 0 0 0 15.9 310757 chr7 12399287 12399287 T C VWDE Nonsynonymous SNV Y949C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 310758 chr20 31024613 31024613 C T rs143041800 ASXL1 Synonymous SNV S1305S 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 4.371 310759 chr1 41503181 41503181 G A rs564084016 SCMH1 Nonsynonymous SNV R343C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 310760 chrX 140993755 140993755 - CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA MAGEC1 S203_R204insSSSSSTLLSLFQSSPERTQSTFEGFPQSPLQIPVS 0.002 0 0 0 2 0 0 0 1 0 0 0 310761 chr13 113976660 113976660 C T rs755522116 LAMP1 Nonsynonymous SNV A393V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310762 chr1 10714261 10714261 G A rs142418398 CASZ1 Nonsynonymous SNV T618I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.55 310763 chrX 153296886 153296886 G A rs61748385 MECP2 Synonymous SNV A143A 0.002 0 0 0 2 0 0 0 1 0 0 0 5.098 310764 chr9 120476640 120476640 G A rs200325837 TLR4 Nonsynonymous SNV R545H 0 0.003 0 0 0 1 0 0 0 0 0 0 32 310765 chr1 12316432 12316432 G A rs116668522 VPS13D Nonsynonymous SNV V238I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.804 310766 chr10 73122133 73122133 A C SLC29A3 Nonsynonymous SNV Q321P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 310767 chr1 12806443 12806443 A G rs769231107 C1orf158 Nonsynonymous SNV Y22C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 310768 chr1 15701040 15701040 C T rs41270245 FHAD1 Nonsynonymous SNV R1142W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 310769 chr1 16057745 16057745 A C rs534045338 PLEKHM2 Nonsynonymous SNV N820H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 310770 chr1 16101335 16101335 C T rs374761995 FBLIM1 Stop gain R312X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 310771 chr17 18770612 18770612 T C rs376920336 PRPSAP2 Star tloss M46T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 310772 chr17 2090010 2090010 G A rs765133081 SMG6 Synonymous SNV L126L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 310773 chr9 130551714 130551714 G A rs139278925 CDK9 Synonymous SNV E337E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.88 310774 chr1 63879754 63879754 G A rs756608021 ALG6 Nonsynonymous SNV C280Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 310775 chr17 27296878 27296878 C A rs369758364 SEZ6 Synonymous SNV L317L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 310776 chr1 22154573 22154573 C A HSPG2 Nonsynonymous SNV G4162V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 310777 chr1 74949031 74949031 C T LRRC53 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 9.676 310778 chr7 150831587 150831587 C T rs763875215 AGAP3 Nonsynonymous SNV P248L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 310779 chr13 99040643 99040643 A G rs146232402 FARP1 Nonsynonymous SNV T256A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 310780 chr7 151664559 151664559 T C rs374944397 GALNTL5 Synonymous SNV D76D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 310781 chr9 134010356 134010356 A G rs756423340 NUP214 Synonymous SNV R301R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.849 310782 chr14 103406427 103406427 T C rs770829901 CDC42BPB Nonsynonymous SNV N1516S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.095 310783 chr1 13910419 13910419 C G rs142084255 PDPN Nonsynonymous SNV P40R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 310784 chr1 27709037 27709037 C A CD164L2 Nonsynonymous SNV R70L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 310785 chr1 32560507 32560507 C T rs142841698 TMEM39B Synonymous SNV A151A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.77 310786 chr1 33625332 33625332 C T rs147783110 TRIM62 Nonsynonymous SNV D119N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 310787 chr14 21109137 21109137 C G OR6S1 Nonsynonymous SNV Q238H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 310788 chr14 21238648 21238648 C G rs756095732 EDDM3B Nonsynonymous SNV S113R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.155 310789 chr1 37948077 37948077 C T rs141726630 ZC3H12A Synonymous SNV S287S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 310790 chr1 39715757 39715757 C G rs912226130 MACF1 Synonymous SNV V118V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 310791 chr1 40029363 40029363 C T rs778573563 PABPC4 Nonsynonymous SNV A502T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 310792 chr1 40544293 40544293 A G rs386833661 PPT1 Nonsynonymous SNV L119P 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 32 310793 chr1 112999880 112999880 T G rs755887661 CTTNBP2NL Nonsynonymous SNV L589R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 310794 chr14 24647331 24647331 G A rs368528890 REC8 Nonsynonymous SNV R299H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 310795 chr10 22498464 22498464 G T rs550246319 EBLN1 Stop gain S150X 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 310796 chr14 24680764 24680764 G A rs780604543 CHMP4A Synonymous SNV F72F 0 0 0.007 0 0 0 0 2 0 0 0 0 14.98 310797 chr14 24807464 24807464 C G RIPK3 Nonsynonymous SNV E219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 310798 chr14 24878988 24878988 C T rs200060308 NYNRIN Nonsynonymous SNV P663L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 20.2 310799 chr14 33015995 33015995 T A rs773454494 AKAP6 Synonymous SNV I712I 0 0 0.007 0 0 0 0 2 0 0 0 0 7.105 310800 chr14 36003734 36003734 G C rs572000158 INSM2 Synonymous SNV A92A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 310801 chr17 42427661 42427661 T C rs763841075 GRN Nonsynonymous SNV C139R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 310802 chr9 32543430 32543430 T C TOPORS Nonsynonymous SNV M300V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.36 310803 chr14 38219031 38219031 A C rs1053340927 TTC6 Nonsynonymous SNV Y996S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 310804 chr14 39304767 39304767 A G LINC00639 0 0 0.003 0 0 0 0 1 0 0 0 0 5.318 310805 chr17 43226798 43226798 G A HEXIM1 Nonsynonymous SNV E81K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 310806 chr9 340251 340251 C T rs544513633 DOCK8 Nonsynonymous SNV R469W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 310807 chr17 4488019 4488019 G A SMTNL2 Nonsynonymous SNV R40H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 310808 chr1 32131528 32131528 T G rs773366697 COL16A1 Nonsynonymous SNV R1137S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.55 310809 chr17 45773511 45773511 C A rs759104211 TBKBP1 Synonymous SNV I11I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 310810 chr14 57710970 57710970 C T EXOC5 Synonymous SNV R126R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 310811 chr17 48270048 48270048 C T rs113950465 COL1A1 Nonsynonymous SNV A628T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.2 310812 chr1 59978074 59978074 C T rs777647429 FGGY Synonymous SNV V166V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 310813 chr17 48827988 48827988 A G rs773038346 LUC7L3 Nonsynonymous SNV D422G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 310814 chr14 68251130 68251130 T G ZFYVE26 Nonsynonymous SNV N1183H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 310815 chr1 66458762 66458762 T A rs144055593 PDE4B Nonsynonymous SNV F58Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.27 310816 chr9 73736198 73736198 T A rs752443932 TRPM3 Nonsynonymous SNV N25Y 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 310817 chr1 41481754 41481754 C T rs760945226 SLFNL1-AS1 0 0 0 2 0 0 0.005 0 0 0 0 0 1.997 310818 chr22 23637219 23637219 G A rs200899697 BCR Synonymous SNV E963E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.457 310819 chr1 70504564 70504564 G A rs115601199 LRRC7 Synonymous SNV P1020P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 310820 chr1 70654870 70654870 C T rs144722179 LRRC40 Nonsynonymous SNV E80K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 310821 chr1 84982043 84982043 A C rs549924969 SPATA1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 8.968 310822 chr1 45120546 45120546 C G rs112953625 TMEM53 Synonymous SNV L100L 0 0 0 2 0 0 0.005 0 0 0 0 0 7.584 310823 chr9 86907599 86907599 T C rs140340331 SLC28A3 Nonsynonymous SNV N336S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 310824 chr9 91616573 91616573 G A rs117829798 S1PR3 Nonsynonymous SNV R153H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 34 310825 chr14 89068345 89068345 G A rs143129413 ZC3H14 Nonsynonymous SNV V298I 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 4.739 310826 chr14 91927902 91927902 T C PPP4R3A Synonymous SNV G499G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.354 310827 chr10 71005968 71005968 C T rs148723879 HKDC1 Nonsynonymous SNV R337W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 29.9 310828 chr14 99967186 99967186 A T rs2069493 CCNK Synonymous SNV L165L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 2.49 310829 chr1 97658654 97658654 C A rs773815814 DPYD Nonsynonymous SNV V865F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 310830 chr22 37962686 37962686 G A CDC42EP1 Synonymous SNV P110P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.922 310831 chr15 102226227 102226227 A G rs529490398 TARSL2 Synonymous SNV S453S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.473 310832 chr22 39262427 39262427 C T rs747654407 CBX6 Synonymous SNV T324T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 310833 chr15 25971164 25971164 G T ATP10A Nonsynonymous SNV Q305K 0 0 0.007 0 0 0 0 2 0 0 0 0 21.3 310834 chr15 28422624 28422624 A G rs755900411 HERC2 Synonymous SNV D3065D 0 0 0.007 0 0 0 0 2 0 0 0 0 9.538 310835 chr22 41537054 41537054 G A EP300 Synonymous SNV A627A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 310836 chr1 110085837 110085837 G A rs200645134 GPR61 Nonsynonymous SNV A65T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 310837 chr11 18051061 18051062 TT - rs778984963 TPH1 K156Tfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 310838 chr1 110883590 110883590 C T rs143717968 RBM15 Synonymous SNV R521R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 310839 chr17 73235941 73235941 A G GGA3 Synonymous SNV H382H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.083 310840 chr15 41228538 41228538 C T rs368013738 DLL4 Synonymous SNV H451H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.593 310841 chr17 74011380 74011380 C A EVPL Nonsynonymous SNV E674D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 310842 chr17 74013866 74013866 C A EVPL Nonsynonymous SNV R577L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 310843 chr1 114973463 114973463 T C rs936382298 TRIM33 Nonsynonymous SNV N371S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 310844 chrX 48320459 48320459 G A rs142925547 SLC38A5 Synonymous SNV L235L 0 0.005 0 0 0 2 0 0 0 1 0 0 5.779 310845 chr1 182869121 182869121 A G SHCBP1L Synonymous SNV S653S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.16 310846 chr22 46659186 46659186 C A rs113101219 PKDREJ Nonsynonymous SNV V12L 0.002 0 0 0 2 0 0 0 1 0 0 0 7.18 310847 chr17 76202995 76202995 A G rs779933135 AFMID Nonsynonymous SNV I297V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 310848 chr1 149902704 149902704 G A rs782646705 MTMR11 Nonsynonymous SNV R410C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 310849 chr1 150940599 150940599 G C rs772059536 CERS2 Nonsynonymous SNV Q124E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 310850 chr1 197071586 197071586 G A rs750759285 ASPM Synonymous SNV A2265A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.289 310851 chrY 21868146 21868146 C T KDM5D Nonsynonymous SNV R1395K 0 0.005 0 0 0 2 0 0 0 1 0 0 0.748 310852 chr17 78319641 78319641 G A rs1043787212 RNF213 Synonymous SNV L2502L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.577 310853 chr15 56164654 56164654 C T rs765582532 NEDD4 Synonymous SNV E523E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 310854 chr1 201966672 201966672 C T rs765794703 RNPEP Synonymous SNV T70T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 310855 chr1 155239319 155239319 C T rs989038220 CLK2 Nonsynonymous SNV R120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 310856 chrX 15333626 15333626 G T rs142097387 ASB11 Synonymous SNV L34L 0.002 0 0 0 2 0 0 0 1 0 0 0 1.187 310857 chr17 8076798 8076798 C T rs201784335 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 4.768 310858 chr1 158615147 158615147 G A rs573444416 SPTA1 Nonsynonymous SNV A1342V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 310859 chr1 158639328 158639328 C T rs200829664 SPTA1 Nonsynonymous SNV R568H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.5 310860 chr15 69695836 69695836 C G LOC145694 0 0 0.003 0 0 0 0 1 0 0 0 0 3.31 310861 chr15 72057515 72057515 T C rs751176663 THSD4 Nonsynonymous SNV W556R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 310862 chr1 158746644 158746644 C T rs141853976 OR6N2 Nonsynonymous SNV R261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 310863 chr17 8925928 8925928 G C NTN1 Nonsynonymous SNV V80L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 310864 chr8 144993398 144993398 C T rs201273543 PLEC Nonsynonymous SNV V3517M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 14.78 310865 chr1 159505435 159505435 G A OR10J5 Synonymous SNV D121D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 310866 chr15 77907046 77907046 A T rs555294379 LINGO1 Nonsynonymous SNV F401L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.125 310867 chr18 21479029 21479029 A G rs777930639 LAMA3 Nonsynonymous SNV I337V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.266 310868 chr8 145699862 145699862 G A FOXH1 Nonsynonymous SNV T286I 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 310869 chr18 29848137 29848137 G A rs778538443 GAREM1 Synonymous SNV I776I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 310870 chr15 83455697 83455697 G A rs201024587 FSD2 Nonsynonymous SNV A149V 0 0 0.007 0 0 0 0 2 0 0 0 0 18.47 310871 chr15 90610658 90610658 C T rs765120913 ZNF710 Nonsynonymous SNV R97W 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 310872 chr1 235967876 235967876 A G LYST Synonymous SNV F1161F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.674 310873 chr18 56606756 56606756 T C rs149704264 ZNF532 Nonsynonymous SNV Y870H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 310874 chr1 201084300 201084300 C A ASCL5 Synonymous SNV V67V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 310875 chr16 14645894 14645894 G A rs61748886 PARN Synonymous SNV P442P 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 11.83 310876 chr16 1612011 1612011 A G IFT140 Nonsynonymous SNV V725A 0 0 0.01 0 0 0 0 3 0 0 1 0 12.01 310877 chr18 77171350 77171350 A C rs377681261 NFATC1 Nonsynonymous SNV S359R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.273 310878 chr1 203743063 203743063 G A rs151128475 LAX1 Nonsynonymous SNV A135T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.332 310879 chr10 43654361 43654361 A G CSGALNACT2 Nonsynonymous SNV Q287R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 310880 chr16 20335550 20335550 C T rs753747248 GP2 Synonymous SNV S41S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 310881 chr16 20994160 20994160 G A rs142897752 DNAH3 Nonsynonymous SNV P2535L 0.001 0 0.007 0 1 0 0 2 0 0 0 0 32 310882 chr16 23436158 23436158 G A rs115610955 COG7 Synonymous SNV P307P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 310883 chr10 50339754 50339754 G A rs73302786 FAM170B Synonymous SNV D252D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.374 310884 chr16 28837601 28837601 A G ATXN2L Nonsynonymous SNV E169G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 310885 chr19 1231179 1231179 A G rs143744896 CBARP Nonsynonymous SNV Y359H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 310886 chr10 5789514 5789514 C T rs748506084 TASOR2 Nonsynonymous SNV T1296I 0.002 0 0.003 0 2 0 0 1 0 0 0 0 25.5 310887 chr19 12786448 12786448 C T rs201667605 WDR83 Stop gain R304X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 310888 chr19 12874234 12874234 C T rs201813747 HOOK2 Synonymous SNV L672L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 310889 chr1 227069673 227069673 C T rs552406611 PSEN2 Nonsynonymous SNV S22L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 310890 chr19 15284976 15284976 G C rs150037063 NOTCH3 Nonsynonymous SNV L1547V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.51 310891 chr2 27685629 27685629 C A rs561676433 IFT172 Nonsynonymous SNV R685L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 310892 chr19 15918174 15918174 G T rs773335521 OR10H1 Nonsynonymous SNV A225D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 310893 chr16 50745197 50745197 C T rs765857594 NOD2 Nonsynonymous SNV R432C 0 0 0.007 0 0 0 0 2 0 0 0 0 11.17 310894 chr16 50745868 50745868 G T rs149002807 NOD2 Nonsynonymous SNV L655F 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 24.4 310895 chr19 16633996 16633996 G A rs371448176 CHERP Nonsynonymous SNV P616L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 310896 chr1 234895111 234895111 C T PP2672 0.001 0 0 0 1 0 0 0 0 0 0 0 2.148 310897 chr1 236900425 236900425 G A ACTN2 Nonsynonymous SNV E263K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 310898 chr16 66918473 66918473 C G PDP2 Nonsynonymous SNV L96V 0 0 0.007 0 0 0 0 2 0 0 0 0 4.226 310899 chr1 247492094 247492094 C T rs201695251 ZNF496 Synonymous SNV P155P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 310900 chr19 19758441 19758441 G C ATP13A1 Synonymous SNV L920L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.835 310901 chr2 68873340 68873340 C T PROKR1 Synonymous SNV S129S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 310902 chr19 33372784 33372784 G T CEP89 Nonsynonymous SNV Q701K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 310903 chr2 3599761 3599761 C T rs781440231 RNASEH1 Nonsynonymous SNV V102I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.049 310904 chr19 36002361 36002361 A G DMKN Synonymous SNV S290S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 310905 chr19 36342551 36342551 C G rs768721706 NPHS1 Nonsynonymous SNV A28P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 310906 chr19 36577698 36577698 C T rs752866383 WDR62 Synonymous SNV T584T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.95 310907 chr9 134021569 134021569 C T rs201639751 NUP214 Nonsynonymous SNV P597L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 310908 chr17 10614347 10614347 C G ADPRM Nonsynonymous SNV D305E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 310909 chr19 38901812 38901812 C T rs142842646 RASGRP4 Nonsynonymous SNV D410N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 310910 chr2 33614308 33614308 G A LTBP1 Nonsynonymous SNV R1222Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 310911 chr17 1629120 1629120 C T rs531945660 WDR81 Synonymous SNV I289I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 310912 chr19 40095925 40095925 G A rs150572663 LGALS13 Nonsynonymous SNV R67H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.764 310913 chr19 40320634 40320634 G A DYRK1B Nonsynonymous SNV L136F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 310914 chr17 17206909 17206909 G C rs868160808 NT5M Synonymous SNV A15A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 310915 chr12 104397048 104397050 TCT - rs764645451 GLT8D2 E50del 0.001 0 0 0 1 0 0 0 0 0 0 0 310916 chr17 1782605 1782605 G T rs55800538 RPA1 Nonsynonymous SNV V273F 0 0 0.007 0 0 0 0 2 0 0 0 0 33 310917 chr17 17919475 17919475 G A rs759026512 DRC3 Nonsynonymous SNV R475K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 310918 chr2 46605202 46605207 CAGCAG - rs747939755 EPAS1 S477_S478del 0.001 0 0 0 1 0 0 0 0 0 0 0 310919 chr12 111885804 111885804 C T rs74163669 SH2B3 Nonsynonymous SNV L274F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 310920 chr12 11324001 11324001 A G SMIM10L1 Nonsynonymous SNV S16G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.79 310921 chr19 44103399 44103399 G T ZNF576 Nonsynonymous SNV G168W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 310922 chr17 28706036 28706036 T C CPD Nonsynonymous SNV L13P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.184 310923 chr2 75280774 75280774 G T TACR1 Nonsynonymous SNV D231E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 310924 chr17 37099164 37099164 C T rs778451241 FBXO47 Nonsynonymous SNV R317H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 310925 chr2 98340771 98340771 C T rs759571835 ZAP70 Nonsynonymous SNV P91L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.85 310926 chr17 38189451 38189451 G A rs144775755 MED24 Nonsynonymous SNV T214M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.986 310927 chr17 38347877 38347877 A G RAPGEFL1 Nonsynonymous SNV M369V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 310928 chr17 38512474 38512474 C T rs770732457 RARA Nonsynonymous SNV P365L 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 310929 chr19 49517839 49517839 C T rs750596061 RUVBL2 Nonsynonymous SNV T333M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 310930 chr17 39661698 39661698 C A KRT13 Synonymous SNV R35R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.27 310931 chr19 50099288 50099288 C T rs758967258 PRR12 Nonsynonymous SNV R566C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 310932 chr19 50436018 50436018 A - ATF5 E173Gfs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 310933 chr19 50519285 50519285 G A rs8103900 VRK3 Synonymous SNV F45F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.503 310934 chr17 40821523 40821523 G A PLEKHH3 Synonymous SNV A710A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 310935 chr19 51986546 51986546 C A CEACAM18 Nonsynonymous SNV H317N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 310936 chr2 197791241 197791241 C T rs752507663 PGAP1 Nonsynonymous SNV E34K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 310937 chr2 198948799 198948799 G A rs371691357 PLCL1 Synonymous SNV E186E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.254 310938 chr17 43227419 43227419 A G HEXIM1 Nonsynonymous SNV I288V 0 0 0.007 0 0 0 0 2 0 0 0 0 8.038 310939 chr17 48540580 48540580 A G rs369230342 ACSF2 Nonsynonymous SNV I126V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.406 310940 chr11 72005141 72005141 G A rs140958543 CLPB Synonymous SNV L541L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.01 310941 chr17 54892321 54892321 G A rs143175206 C17orf67 Nonsynonymous SNV P22L 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 310942 chr17 56277632 56277632 G A rs562522475 EPX Synonymous SNV K528K 0 0 0.007 0 0 0 0 2 0 0 0 0 14.36 310943 chr2 172409931 172409931 G T rs781047968 CYBRD1 Nonsynonymous SNV C90F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 310944 chr17 56581751 56581751 T C rs780527113 MTMR4 Synonymous SNV Q466Q 0 0 0.007 0 0 0 0 2 0 0 0 0 3.615 310945 chr19 5561095 5561095 G A rs187769157 TINCR 0 0 0.003 0 0 0 0 1 0 0 0 0 3.678 310946 chr17 63193295 63193295 C T rs780858045 RGS9 Synonymous SNV S301S 0 0 0.007 0 0 0 0 2 0 0 0 0 17.13 310947 chr19 56189987 56189987 G A rs893775327 EPN1 Synonymous SNV P109P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 310948 chr19 56671019 56671019 C T rs181632973 ZNF444 Nonsynonymous SNV P144S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.75 310949 chr17 71281871 71281871 C T rs200947207 CDC42EP4 Nonsynonymous SNV V257M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 310950 chr19 58324693 58324693 C A rs417518 ZNF552 Synonymous SNV T43T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 310951 chr19 58850368 58850368 G A rs147732645 ZSCAN22 Synonymous SNV A384A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.655 310952 chr2 158974403 158974403 G A rs148283386 UPP2 Nonsynonymous SNV R136Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 310953 chr19 6415730 6415732 GCT - KHSRP A570del 0 0 0.003 0 0 0 0 1 0 0 0 0 310954 chr17 74007938 74007938 T G EVPL Nonsynonymous SNV Y850S 0 0 0.007 0 0 0 0 2 0 0 0 0 28.9 310955 chr2 215440539 215440539 G A VWC2L Nonsynonymous SNV V222M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 310956 chr19 7735210 7735210 C T RETN Nonsynonymous SNV A101V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 310957 chr17 76533447 76533447 C T DNAH17 Synonymous SNV L931L 0 0 0.007 0 0 0 0 2 0 0 0 0 5.54 310958 chr3 10413556 10413556 G C ATP2B2 Synonymous SNV T487T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.544 310959 chr17 79502134 79502134 C T FSCN2 Stop gain Q295X 0 0 0.01 0 0 0 0 3 0 0 0 0 40 310960 chr17 80007564 80007564 G C RFNG Nonsynonymous SNV L273V 0 0 0.01 0 0 0 0 3 0 0 0 0 0.001 310961 chr3 15262314 15262314 C T CAPN7 Nonsynonymous SNV T155I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 310962 chr12 86198787 86198787 G C RASSF9 Nonsynonymous SNV S334C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 310963 chr18 21530013 21530013 C T rs751018019 LAMA3 Nonsynonymous SNV P1513S 0 0 0.007 0 0 0 0 2 0 0 0 0 18.2 310964 chr1 102359002 102359002 C T rs3748653 DNAJA1P5 0 0 0.007 0 0 0 0 2 0 0 1 0 1.167 310965 chr18 29437916 29437916 A T TRAPPC8 Synonymous SNV L925L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 310966 chr18 32459678 32459678 C T rs754959223 DTNA Synonymous SNV G382G 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 9.95 310967 chr2 198950286 198950286 C T PLCL1 Nonsynonymous SNV T682M 0 0 0 2 0 0 0.005 0 0 0 0 0 24.3 310968 chr1 11087056 11087056 C A rs148865407 MASP2 Synonymous SNV V649V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 310969 chr18 43796214 43796214 C T rs202083909 C18orf25 Nonsynonymous SNV A123V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 310970 chr18 51887141 51887141 G A rs572366227 C18orf54 Nonsynonymous SNV G67S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.021 310971 chr3 4825556 4825556 C T rs578051224 ITPR1 Synonymous SNV D2126D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 310972 chr3 5244811 5244811 G A rs756583262 EDEM1 Nonsynonymous SNV R340Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 310973 chr13 113337707 113337707 C T ATP11AUN 0.001 0 0 0 1 0 0 0 0 0 0 0 3.077 310974 chr13 113732737 113732737 A C rs767682120 MCF2L Nonsynonymous SNV Y536S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 310975 chr13 23905490 23905490 A C rs758466161 SACS Synonymous SNV V4028V 0.003 0 0 0 4 0 0 0 0 0 0 0 Likely benign 0.001 310976 chr3 12858017 12858017 G C CAND2 Nonsynonymous SNV C436S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 310977 chr18 6576043 6576043 T C LINC01387 0 0 0.007 0 0 0 0 2 0 0 0 0 0.089 310978 chr13 25745087 25745087 A C AMER2 Nonsynonymous SNV L224W 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 310979 chr1 145416345 145416345 C T rs782115943 HJV Synonymous SNV C4C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 310980 chr1 145541514 145541514 C G ITGA10 Nonsynonymous SNV T958S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 310981 chr1 145589275 145589275 G A rs782581309 NUDT17 Synonymous SNV S51S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 310982 chr1 150484214 150484214 C G rs201302483 ECM1 Synonymous SNV P357P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.494 310983 chr1 150526226 150526245 CAGAGCCCAGGCCTCTGGCA - rs199473693 ADAMTSL4 Q256Pfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 310984 chr18 77659237 77659237 G A rs369494677 KCNG2 Synonymous SNV P274P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.181 310985 chr1 152325411 152325411 G A rs199839343 FLG2 Synonymous SNV H1617H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.005 310986 chr3 33065791 33065791 G A rs200762972 GLB1 Synonymous SNV I234I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.926 310987 chr3 33580434 33580434 A G CLASP2 Synonymous SNV S923S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.138 310988 chr3 62317010 62317010 C G C3orf14 Nonsynonymous SNV A63G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.79 310989 chr3 38159323 38159323 C T rs781662000 DLEC1 Synonymous SNV H1507H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 310990 chr19 10443982 10443982 C T RAVER1 Nonsynonymous SNV G68R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 310991 chr3 98188663 98188663 G C rs188538173 OR5K1 Nonsynonymous SNV M81I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.2 310992 chr1 1560979 1560979 C T rs770073380 MIB2 Synonymous SNV R356R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 310993 chr1 15616026 15616026 G T FHAD1 Nonsynonymous SNV M144I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.337 310994 chr1 1563556 1563556 C T rs758490620 MIB2 Nonsynonymous SNV A663V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 310995 chr19 12825882 12825882 G C TNPO2 Synonymous SNV P250P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.722 310996 chr2 237246905 237246905 A G rs115960780 IQCA1 Nonsynonymous SNV C652R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 310997 chr1 156811471 156811471 G A rs55694053 INSRR Synonymous SNV T1171T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.705 310998 chr12 52789839 52789839 C T rs138955015 KRT82 Nonsynonymous SNV E416K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 310999 chr19 1466973 1466973 G A rs372608216 APC2 Nonsynonymous SNV E1224K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 311000 chr3 45559474 45559474 T C rs34459812 LARS2 Synonymous SNV S708S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 2.861 311001 chr3 45583409 45583409 G T rs9827689 LARS2 Nonsynonymous SNV E831D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 9.795 311002 chr3 45588912 45588912 G A rs34965084 LARS2 Nonsynonymous SNV E868K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.88 311003 chr19 15661545 15661545 G T CYP4F22 Nonsynonymous SNV V466L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.209 311004 chr12 53454495 53454495 G A rs755734261 TNS2 Synonymous SNV A945A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.538 311005 chr12 53608315 53608315 G C RARG Nonsynonymous SNV P162R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 311006 chr19 16321205 16321205 C T AP1M1 Nonsynonymous SNV T194M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 311007 chr3 49458975 49458975 G T AMT Nonsynonymous SNV L41M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 311008 chr3 49691608 49691608 C G rs754530593 BSN Nonsynonymous SNV P1540R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 311009 chr1 162824935 162824935 C T rs774270862 CCDC190 Nonsynonymous SNV V177I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 311010 chr12 56031501 56031501 A C rs780369555 OR10P1 Nonsynonymous SNV S276R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 311011 chr19 1828148 1828148 G A rs77108843 REXO1 Nonsynonymous SNV R214C 0 0 0.01 0 0 0 0 3 0 0 0 0 25.6 311012 chr3 53269149 53269149 T G rs781889303 TKT Nonsynonymous SNV E160A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 311013 chr12 57963903 57963903 C T rs780256557 KIF5A Synonymous SNV Y328Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 311014 chr3 129137228 129137228 G T rs763351484 EFCAB12 Nonsynonymous SNV P184T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 311015 chr19 19822580 19822580 C G ZNF14 Nonsynonymous SNV E504Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 311016 chr1 175372368 175372368 C T rs954788201 TNR Nonsynonymous SNV R295Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 311017 chr3 66431025 66431025 G A rs555406294 LRIG1 Nonsynonymous SNV P1011S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 311018 chr12 66605332 66605332 A T rs200549011 IRAK3 Nonsynonymous SNV R120S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 311019 chr3 73111828 73111828 A G rs201170532 EBLN2 Nonsynonymous SNV D199G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 311020 chr1 180904799 180904799 C T rs200812904 KIAA1614 Nonsynonymous SNV A585V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 311021 chr12 6933770 6933770 C T rs376675662 GPR162 Nonsynonymous SNV R236W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 311022 chr1 201177415 201177415 G A rs139658488 IGFN1 Nonsynonymous SNV A1132T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 311023 chr1 201182386 201182386 C T rs201322339 IGFN1 Stop gain Q2789X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 311024 chr11 107375418 107375418 T C rs142378823 ALKBH8 Nonsynonymous SNV Q657R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 311025 chr1 203014519 203014519 G A PPFIA4 Synonymous SNV E230E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.459 311026 chr19 3978048 3978048 G A rs201326053 EEF2 Synonymous SNV G612G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 311027 chr1 204438032 204438032 G A rs202155405 PIK3C2B Nonsynonymous SNV T300M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 311028 chr19 40513243 40513243 C T rs760436332 ZNF546 Synonymous SNV D52D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 311029 chr3 124165110 124165110 G A rs373031459 KALRN Nonsynonymous SNV R1087H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 311030 chr19 42503381 42503381 C G GRIK5 Nonsynonymous SNV R862P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 311031 chr3 126747860 126747860 G A rs142147514 PLXNA1 Nonsynonymous SNV R1565H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 311032 chr19 44117538 44117538 C T rs896195288 SRRM5 Nonsynonymous SNV A422V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.05 311033 chr1 213009336 213009336 C T rs375533640 SPATA45 Synonymous SNV P52P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.813 311034 chr3 129247816 129247816 C T RHO Synonymous SNV A80A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 311035 chr3 129281643 129281643 C T rs371981803 PLXND1 Synonymous SNV E1604E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 311036 chr1 214557170 214557170 C T rs200185375 PTPN14 Synonymous SNV P676P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.69 311037 chr11 120187942 120187942 G C POU2F3 Synonymous SNV T382T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 311038 chr3 132172333 132172333 A G DNAJC13 Nonsynonymous SNV I243M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 311039 chr1 22181403 22181403 A T rs145943896 HSPG2 Nonsynonymous SNV L2025H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 311040 chr19 44981569 44981570 CT - rs759359775 ZNF180 K354Tfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 311041 chr14 70459160 70459160 A G rs767873656 SMOC1 Nonsynonymous SNV M185V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 311042 chr11 123894460 123894460 C T rs146093781 OR10G9 Synonymous SNV V247V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 311043 chr14 90420701 90420701 T C rs759226770 EFCAB11 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 3.272 311044 chr14 91738995 91738995 C T rs749955208 CCDC88C Nonsynonymous SNV V2021M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 311045 chr1 236918465 236918465 C G ACTN2 Synonymous SNV V707V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.16 311046 chr1 236966812 236966812 T C MTR Nonsynonymous SNV M40T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 311047 chr1 24690747 24690747 G A rs200103413 GRHL3 Synonymous SNV V589V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.931 311048 chr1 247264541 247264541 T C rs746690064 ZNF669 Nonsynonymous SNV D91G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.262 311049 chr12 121678562 121678562 G C rs201486892 CAMKK2 Synonymous SNV A526A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.282 311050 chr3 195501174 195501174 C T MUC4 Nonsynonymous SNV V29I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.532 311051 chr4 961739 961739 G C rs758629181 DGKQ Nonsynonymous SNV A247G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.657 311052 chr4 79301010 79301010 T C FRAS1 Synonymous SNV H1141H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 311053 chr11 31824276 31824276 C T rs919486001 PAX6 Synonymous SNV P40P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.27 311054 chr1 27994969 27994969 C G IFI6 Nonsynonymous SNV G50R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 311055 chr1 27994970 27994970 T G IFI6 Synonymous SNV G49G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 311056 chr19 54848942 54848942 C G rs757589309 LILRA4 Synonymous SNV L227L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 311057 chr1 32084861 32084861 T C rs11806980 HCRTR1 Nonsynonymous SNV V23A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 311058 chr4 2822403 2822403 T C SH3BP2 Nonsynonymous SNV L20P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 311059 chr4 2906799 2906799 C T rs375490346 ADD1 Synonymous SNV S490S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 311060 chr1 33059343 33059343 A G rs61998256 ZBTB8A Nonsynonymous SNV K271E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.416 311061 chr11 3819137 3819137 G T rs1054444879 PGAP2 Nonsynonymous SNV A22S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 311062 chr4 89415367 89415367 T C HERC5 Nonsynonymous SNV S777P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 311063 chr4 3318517 3318517 C T rs114466336 RGS12 Nonsynonymous SNV S207L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 311064 chr4 3487322 3487322 G A rs16844422 DOK7 Nonsynonymous SNV D53N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 311065 chr14 23345067 23345067 G T rs765344470 LRP10 Nonsynonymous SNV V304L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 311066 chr1 35853110 35853110 A G rs142929752 ZMYM4 Nonsynonymous SNV N399S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 311067 chr4 6594971 6594971 G C rs140896144 MAN2B2 Nonsynonymous SNV S251T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 311068 chr15 60741448 60741448 G T ICE2 Nonsynonymous SNV T436K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 311069 chr11 47611968 47611968 A T C1QTNF4 Nonsynonymous SNV V132E 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 311070 chr4 8376719 8376719 G A rs143748739 ACOX3 Nonsynonymous SNV A605V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 311071 chr1 43738821 43738821 C T rs780031740 TMEM125 Nonsynonymous SNV P143L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 311072 chr4 15444220 15444220 G A rs199762846 C1QTNF7 Nonsynonymous SNV A230T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 311073 chr15 66010321 66010321 C T rs749952709 DENND4A Synonymous SNV P534P 0.001 0 0 0 1 0 0 0 0 0 0 0 13 311074 chr1 46086642 46086642 C T rs376007775 CCDC17 Nonsynonymous SNV R511H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311075 chr4 22414962 22414962 C T rs758572665 ADGRA3 Nonsynonymous SNV R692Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 311076 chr19 6825376 6825376 C A VAV1 Synonymous SNV G230G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 311077 chr4 39501808 39501808 C T rs200551526 UGDH Synonymous SNV P413P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 311078 chr19 8131003 8131003 C T rs34941422 FBN3 Nonsynonymous SNV G2744R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27.4 311079 chr1 55527122 55527122 A G rs146035580 PCSK9 Nonsynonymous SNV N586D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 311080 chr19 8152816 8152816 G A rs750312296 FBN3 Nonsynonymous SNV S2171F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 311081 chr1 55620401 55620401 T C rs147846652 USP24 Synonymous SNV A499A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.747 311082 chr15 82335858 82335858 C T rs575112276 MEX3B Synonymous SNV A451A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.096 311083 chr1 68152183 68152183 G A rs371373161 GADD45A Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.645 311084 chr4 72263327 72263327 C T SLC4A4 Nonsynonymous SNV S211F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 311085 chr1 76209287 76209287 A G rs114256378 DLSTP1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 311086 chr1 85121659 85121659 A G rs779192894 SSX2IP Synonymous SNV D388D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.484 311087 chr14 86088532 86088532 C T rs759218903 FLRT2 Nonsynonymous SNV T225I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 311088 chr5 5476136 5476136 A G rs368819822 ICE1 Nonsynonymous SNV H2155R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.8 311089 chr1 109811376 109811376 G A rs560335750 CELSR2 Synonymous SNV T2164T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.797 311090 chr4 91230504 91230504 G A rs763793102 CCSER1 Nonsynonymous SNV A357T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 311091 chr5 10564732 10564732 C T rs570742268 ANKRD33B Synonymous SNV S51S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 311092 chr5 10681120 10681120 C G rs5745295 DAP Nonsynonymous SNV W105S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.073 311093 chr1 90400077 90400077 G A rs774092326 LRRC8D Nonsynonymous SNV D484N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 311094 chr1 916192 916192 C G PERM1 Nonsynonymous SNV G73A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.477 311095 chr1 112998664 112998664 C T rs757162970 CTTNBP2NL Nonsynonymous SNV L184F 0 0 0.007 0 0 0 0 2 0 0 0 0 22.1 311096 chr1 113253678 113253678 G A rs755866439 PPM1J Synonymous SNV I354I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 311097 chr4 103966054 103966054 C T rs144171444 SLC9B2 Nonsynonymous SNV R273H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 311098 chr1 117248575 117248575 T C C1orf137 0 0 0.003 0 0 0 0 1 0 0 0 0 7.015 311099 chr4 108829730 108829730 G A rs199981148 SGMS2 Nonsynonymous SNV R246H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311100 chr1 97981407 97981407 C T rs142619737 DPYD Nonsynonymous SNV G539R 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 32 311101 chr1 1179855 1179855 - CC C1QTNF12 Frameshift insertion E67Gfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 311102 chr16 19729320 19729320 G C rs932090380 KNOP1 Nonsynonymous SNV S28C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 311103 chr1 13910432 13910432 C G rs199557731 PDPN Synonymous SNV S44S 0 0 0.007 0 0 0 0 2 0 0 0 0 12.66 311104 chr1 14106266 14106266 T C PRDM2 Nonsynonymous SNV M458T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 311105 chr4 126371198 126371198 T C rs775185691 FAT4 Synonymous SNV D3011D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 311106 chr16 22278109 22278109 C - EEF2K N560Tfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 311107 chr11 61917580 61917580 C T INCENP Nonsynonymous SNV P811S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 311108 chr4 141446648 141446648 A - rs770780667 ELMOD2 L22Ffs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 311109 chr11 63065136 63065136 G A rs201674721 SLC22A10 Nonsynonymous SNV R256Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 311110 chr15 42160770 42160770 G A rs377495076 SPTBN5 Synonymous SNV R1961R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.753 311111 chr11 63885113 63885113 G A rs774255767 FLRT1 Synonymous SNV T458T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.335 311112 chr16 3085580 3085580 C T rs894936869 LOC100128770 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.373 311113 chr4 156711015 156711015 C A rs760371607 GUCY1B1 Synonymous SNV I81I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 311114 chr20 35661238 35661238 A C rs201655081 RBL1 Nonsynonymous SNV S311A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.05 311115 chr16 31447510 31447510 G A rs983390282 ZNF843 Nonsynonymous SNV L221F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 311116 chr4 162697104 162697104 G A FSTL5 Synonymous SNV L177L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.725 311117 chr16 3297183 3297183 C T rs104895104 MEFV Nonsynonymous SNV E263K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.07 311118 chr1 155223457 155223457 C G rs371935188 FAM189B Nonsynonymous SNV V98L 0 0 0.007 0 0 0 0 2 0 0 0 0 16.76 311119 chr1 155491157 155491157 G A rs199618784 ASH1L Nonsynonymous SNV R52W 0 0 0.007 0 0 0 0 2 0 0 0 0 19.26 311120 chr16 4033421 4033421 C T ADCY9 Synonymous SNV V777V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 311121 chr20 37632437 37632437 G A rs747437750 DHX35 Nonsynonymous SNV A269T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 311122 chr4 184367583 184367583 A G CDKN2AIP Nonsynonymous SNV K249R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.871 311123 chr4 186294092 186294092 C T rs150155937 LRP2BP Nonsynonymous SNV G241R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 311124 chr1 157557254 157557254 C T rs757855962 FCRL4 Nonsynonymous SNV R220Q 0 0 0.007 0 0 0 0 2 0 0 0 0 26.2 311125 chr20 44639956 44639961 GTGAGT - rs762254377 MMP9 0 0 0.003 0 0 0 0 1 0 0 0 0 311126 chr20 49211161 49211161 G A rs201691968 RIPOR3 Nonsynonymous SNV T714M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 311127 chr1 159035935 159035935 T C rs760089097 AIM2 Nonsynonymous SNV N89S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 311128 chr16 58743428 58743428 G A rs757341111 GOT2 Nonsynonymous SNV R312W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 311129 chr1 162737080 162737080 C A rs143928882 DDR2 Synonymous SNV I408I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 20.4 311130 chr20 58646143 58646143 G C rs570361816 C20orf197 0 0 0.003 0 0 0 0 1 0 0 0 0 0.86 311131 chr5 9630001 9630003 AAG - rs768104638 TAS2R1 L48del 0.001 0 0 0 1 0 0 0 0 0 0 0 311132 chr1 165513802 165513802 G A rs374982726 LRRC52 Nonsynonymous SNV R90Q 0 0 0.007 0 0 0 0 2 0 0 0 0 10.34 311133 chr1 168168172 168168172 A C rs765306922 TIPRL Nonsynonymous SNV M210L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 311134 chr11 71724466 71724466 C T rs201233049 NUMA1 Synonymous SNV L1361L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.63 311135 chr1 17567225 17567225 C T PADI1 Synonymous SNV N576N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.492 311136 chr5 45262290 45262290 G A rs749939446 HCN1 Synonymous SNV S802S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.336 311137 chr16 77246075 77246075 A T SYCE1L Stop gain K117X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 311138 chr5 140745412 140745412 A T PCDHGA5 Synonymous SNV V505V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 311139 chr5 141052393 141052393 G A rs189760075 ARAP3 Nonsynonymous SNV T398M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 311140 chr5 1009637 1009637 G T rs755340269 NKD2 Nonsynonymous SNV G35C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.3 311141 chr21 41032541 41032541 C G B3GALT5 Nonsynonymous SNV L19V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.755 311142 chr21 43242351 43242351 C T rs558527785 PRDM15 Nonsynonymous SNV G639S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 311143 chr12 1005507 1005507 G T WNK1 Nonsynonymous SNV A1704S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.813 311144 chr12 101430894 101430894 A G rs148799316 ANO4 Nonsynonymous SNV N288S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 311145 chr1 202992039 202992039 A G rs768458211 TMEM183A Nonsynonymous SNV R331G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.628 311146 chr1 20304873 20304873 C T rs761785554 PLA2G2A Nonsynonymous SNV R62H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 311147 chr5 82815988 82815988 C T VCAN Synonymous SNV D621D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.877 311148 chr5 89924500 89924500 G A ADGRV1 Nonsynonymous SNV G454R 0.001 0 0 0 1 0 0 0 0 0 0 0 29 311149 chr12 104054503 104054503 A G rs138849911 STAB2 Nonsynonymous SNV M611V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.3 311150 chr17 10216519 10216519 G A rs199597355 MYH13 Synonymous SNV Y1379Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.242 311151 chr17 10346708 10346708 A G rs535914239 MYH4 Nonsynonymous SNV V1935A 0.001 0 0 0 1 0 0 0 0 0 0 0 18 311152 chr5 96129598 96129598 T C rs371320592 ERAP1 Nonsynonymous SNV R328G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 311153 chr1 209879205 209879205 C T rs149277936 HSD11B1 Synonymous SNV I46I 0 0 0.007 0 0 0 0 2 0 0 0 0 12.56 311154 chr17 12916572 12916572 G A rs775086832 ELAC2 Nonsynonymous SNV P171S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.787 311155 chr22 19127133 19127133 T C ESS2 Nonsynonymous SNV Y227C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 311156 chr17 1554421 1554421 C T rs147050234 PRPF8 Synonymous SNV S2278S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.62 311157 chr5 179299979 179299979 G T rs148836971 TBC1D9B Nonsynonymous SNV S776R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 311158 chr22 20812191 20812191 A G rs148297034 KLHL22 Synonymous SNV A403A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.395 311159 chr22 21363447 21363447 T C rs28448775 THAP7-AS1, TUBA3FP 0 0 0.003 0 0 0 0 1 0 0 0 0 3.471 311160 chr22 21363775 21363775 C T rs112871458 THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.315 311161 chr5 132537668 132537668 C T FSTL4 Nonsynonymous SNV D595N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 311162 chr6 4892102 4892102 G A rs537450737 CDYL Synonymous SNV T60T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.631 311163 chr5 137354090 137354090 C T FAM13B Nonsynonymous SNV V91I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 311164 chr16 28146632 28146632 G C rs765098197 XPO6 Nonsynonymous SNV L450V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 311165 chr22 31491393 31491393 C T rs777289625 SMTN Synonymous SNV S635S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 311166 chr5 140801036 140801036 G C rs767500900 PCDHGA11 Nonsynonymous SNV R81P 0.001 0 0 0 1 0 0 0 0 0 0 0 23 311167 chr5 112198250 112198250 C T SRP19 Synonymous SNV I29I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 311168 chr22 37964157 37964157 C T rs376281327 CDC42EP1 Nonsynonymous SNV S169L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 311169 chr6 33644655 33644655 G A ITPR3 Synonymous SNV K1131K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 311170 chr22 44359215 44359215 A G rs200348301 SAMM50 Nonsynonymous SNV E24G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 311171 chr5 150922028 150922028 G A FAT2 Nonsynonymous SNV S2887F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 311172 chr5 150924528 150924528 C G rs746748302 FAT2 Nonsynonymous SNV G2054R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 311173 chr5 167643886 167643886 G A rs777429968 TENM2 Nonsynonymous SNV V1159I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 311174 chr1 249151502 249151502 G C ZNF692 Nonsynonymous SNV P141A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.162 311175 chr22 50944794 50944794 C T LMF2 Nonsynonymous SNV R147Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311176 chr16 66545906 66545906 T C rs144419486 TK2 Nonsynonymous SNV I230V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 311177 chr22 50962476 50962476 - G SCO2 Frameshift insertion Q122Pfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 311178 chr5 172660167 172660167 G T rs387906774 NKX2-5 Nonsynonymous SNV A127E 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 0.002 311179 chr1 27177696 27177696 G A rs199821130 ZDHHC18 Nonsynonymous SNV A304T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 311180 chr1 27687727 27687727 C G rs779053962 MAP3K6 Nonsynonymous SNV E577Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 311181 chr2 105924258 105924258 G A rs762782922 TGFBRAP1 Synonymous SNV A167A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.987 311182 chr5 178358871 178358871 A G ZFP2 Nonsynonymous SNV Y186C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 311183 chr1 32196484 32196484 G A rs776687412 ADGRB2 Nonsynonymous SNV R1400C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 311184 chr5 148407672 148407672 C T rs372749343 SH3TC2 Synonymous SNV K541K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Likely benign 5.343 311185 chr1 35453878 35453878 A G rs144581211 ZMYM6 Synonymous SNV C935C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.031 311186 chr1 39827087 39827087 T C MACF1 Nonsynonymous SNV M2108T 0 0 0.007 0 0 0 0 2 0 0 0 0 16.92 311187 chr1 40033170 40033170 G C SNORA55 0 0 0.007 0 0 0 0 2 0 0 0 0 3.003 311188 chr6 4052212 4052212 A G rs143630943 PRPF4B Synonymous SNV E732E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.146 311189 chr2 131672868 131672868 G A ARHGEF4 Nonsynonymous SNV S450N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.676 311190 chr2 131888328 131888328 A G PLEKHB2 Nonsynonymous SNV N62D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 311191 chr1 41157410 41157410 C G rs564595960 NFYC-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 16.74 311192 chr1 41157592 41157592 G T rs557137471 NFYC-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 13.22 311193 chr2 136530012 136530012 G A rs764488642 UBXN4 Nonsynonymous SNV R282H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 311194 chr6 99848778 99848778 G A rs147317191 PNISR Nonsynonymous SNV R668C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 311195 chr1 43825058 43825058 C G rs766099037 CDC20 Nonsynonymous SNV R58G 0 0 0.007 0 0 0 0 2 0 0 0 0 24.2 311196 chr2 158115780 158115780 A G rs147848386 GALNT5 Nonsynonymous SNV I396V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 311197 chr1 49005314 49005314 C T AGBL4 Nonsynonymous SNV R467Q 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 311198 chr2 162091955 162091955 G A rs758152928 TANK Nonsynonymous SNV V402I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 311199 chr2 169851965 169851965 G A ABCB11 Nonsynonymous SNV R169C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311200 chr12 57112021 57112021 G A NACA Nonsynonymous SNV S1098F 0 0 0 1 0 0 0.003 0 0 0 0 0 3.774 311201 chr2 171055871 171055871 G A MYO3B Synonymous SNV L52L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 311202 chr6 36982477 36982477 G C rs147148066 FGD2 Nonsynonymous SNV E293D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 311203 chr17 56349220 56349220 G A rs762964641 MPO Nonsynonymous SNV P609L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 311204 chr2 178082443 178082443 T C rs375714081 HNRNPA3 Synonymous SNV Y255Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.648 311205 chr12 64195911 64195911 G A rs114036100 RXYLT1 Nonsynonymous SNV V157I 0 0 0 2 0 0 0.005 0 0 0 0 0 Benign 0.213 311206 chr6 132966541 132966541 A G TAAR1 Nonsynonymous SNV I201T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 311207 chr17 60042743 60042743 G A rs756580776 MED13 Nonsynonymous SNV P1490S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 311208 chr1 6635142 6635142 G T rs530483330 TAS1R1 Nonsynonymous SNV R317L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.968 311209 chr17 11554583 11554583 G A rs146934895 DNAH9 Synonymous SNV L765L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.708 311210 chr2 179611510 179611510 A G rs765093886 TTN Nonsynonymous SNV V5206A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 311211 chr6 138754413 138754413 G A NHSL1 Stop gain Q361X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311212 chr6 139564138 139564138 A G rs9495392 TXLNB Nonsynonymous SNV I527T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 311213 chr2 179664277 179664277 G A rs775566677 TTN Nonsynonymous SNV S284L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 311214 chr17 15928413 15928413 G A rs781506238 TTC19 Synonymous SNV P146P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 311215 chr1 76210430 76210430 G A rs577396781 DLSTP1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.733 311216 chr1 76363684 76363684 T A rs758987664 MSH4 Nonsynonymous SNV H816Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22 311217 chr16 1203743 1203743 C T rs993061665 CACNA1H Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.64 311218 chr17 71364624 71364624 T C rs774334957 SDK2 Nonsynonymous SNV M1697V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.975 311219 chr1 89579954 89579954 G A rs756151458 GBP2 Synonymous SNV Y298Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.529 311220 chr2 192863811 192863811 T C TMEFF2 Synonymous SNV E220E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.629 311221 chr2 197791286 197791286 A G rs749719250 PGAP1 Nonsynonymous SNV F19L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.613 311222 chr2 200813137 200813137 A G rs748960511 TYW5 Nonsynonymous SNV V46A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.515 311223 chr1 91406840 91406840 T C rs774606879 ZNF644 Nonsynonymous SNV N24S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 311224 chr2 202195493 202195493 C G rs200602814 FLACC1 Nonsynonymous SNV L196F 0 0 0.003 0 0 0 0 1 0 0 0 0 26 311225 chr2 204245066 204245066 A G rs141392713 ABI2 Nonsynonymous SNV I141V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 311226 chr6 160769698 160769698 C A SLC22A3 Nonsynonymous SNV P83T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.531 311227 chr1 95709888 95709888 G A rs778350657 RWDD3 Synonymous SNV S69S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.46 311228 chr6 80223248 80223248 T G rs200395970 LCA5 Nonsynonymous SNV K134T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.6 311229 chr20 1551602 1551614 CCAGTTGTAGGTG - rs772706328 SIRPB1 Stop gain T308* 0 0 0.003 0 0 0 0 1 0 0 0 0 311230 chr20 1630049 1630049 C T rs750234705 SIRPG Nonsynonymous SNV A27T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.102 311231 chr20 18123460 18123460 C T rs777037743 KAT14 Synonymous SNV H52H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.806 311232 chr17 7478100 7478100 C G SNORA48 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 311233 chr20 18374956 18374956 G T rs768913708 DZANK1 Nonsynonymous SNV H383Q 0 0 0.007 0 0 0 0 2 0 0 0 0 8.638 311234 chr2 219296652 219296652 T C rs200476718 VIL1 Nonsynonymous SNV M392T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 311235 chr2 219483506 219483506 T C rs201000291 PLCD4 Nonsynonymous SNV M129T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 311236 chr17 7605781 7605781 C T rs149359927 WRAP53 Nonsynonymous SNV P359S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.268 311237 chr6 109714132 109714132 A G rs758158097 PPIL6 Nonsynonymous SNV I246T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 311238 chr17 36666437 36666437 G T ARHGAP23 Synonymous SNV P1235P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 311239 chr20 25394454 25394454 A G rs140932797 GINS1 Nonsynonymous SNV E35G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 311240 chr17 78180861 78180861 C T rs140536892 CARD14 Synonymous SNV N928N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 311241 chr20 2732385 2732385 T C EBF4 Nonsynonymous SNV L349P 0 0 0.003 0 0 0 0 1 0 0 0 0 28 311242 chr20 3052754 3052754 G A OXT Nonsynonymous SNV R51H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 311243 chr6 117678977 117678977 G A rs1052987141 ROS1 Nonsynonymous SNV P1282S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 311244 chr2 230667057 230667057 T C rs148737326 TRIP12 Synonymous SNV T694T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.353 311245 chr2 232262494 232262494 G A rs116209946 B3GNT7 Nonsynonymous SNV V22M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 311246 chr6 132211528 132211528 C T rs145911583 ENPP1 Synonymous SNV H885H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 311247 chr20 33855037 33855037 A G rs997170560 MMP24 Nonsynonymous SNV R337G 0 0 0.007 0 0 0 0 2 0 0 0 0 19.08 311248 chr17 80043002 80043002 G A rs769869660 FASN Nonsynonymous SNV P1440S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.619 311249 chr17 80045889 80045889 C T rs368158462 FASN Nonsynonymous SNV R936Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.4 311250 chr2 234775533 234775533 G A MSL3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 311251 chr7 30830954 30830954 C T rs181084371 MINDY4 Synonymous SNV T279T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.93 311252 chr2 239133834 239133834 C A rs559614476 LINC02610 0 0 0.003 0 0 0 0 1 0 0 0 0 8.353 311253 chr2 241396026 241396026 G A rs1050407796 LOC100130449 0 0 0.003 0 0 0 0 1 0 0 0 0 21 311254 chr2 241463442 241463442 G A rs142172344 ANKMY1 Synonymous SNV C245C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.148 311255 chr17 39553678 39553678 G A rs777382746 KRT31 Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.542 311256 chr17 9546489 9546489 C T rs755961824 CFAP52 Stop gain R545X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 311257 chr6 152675841 152675841 G T rs149712464 SYNE1 Nonsynonymous SNV R3627S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.25 311258 chr20 56083841 56083841 G A rs749570710 CTCFL Nonsynonymous SNV R355C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 311259 chr14 100795348 100795348 G A rs147730585 SLC25A47 Nonsynonymous SNV E59K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 311260 chr6 109827606 109827606 C A rs115666311 AK9 Nonsynonymous SNV W1591C 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 34 311261 chr6 109894709 109894709 G A rs149966526 AK9 Synonymous SNV T760T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.891 311262 chr6 159655403 159655403 C A rs201797201 FNDC1 Nonsynonymous SNV P1287T 0.003 0 0 0 3 0 0 0 0 0 0 0 9.524 311263 chr16 27497471 27497471 C T rs142802329 GTF3C1 Synonymous SNV E1235E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 311264 chr6 160999646 160999646 G A rs201837428 LPA Synonymous SNV C1460C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.363 311265 chr6 167753934 167753934 C T rs780270059 TTLL2 Synonymous SNV F182F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 311266 chr2 38178603 38178603 G A rs561874859 RMDN2 Nonsynonymous SNV G82E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 311267 chr2 39605249 39605249 T A MAP4K3 Nonsynonymous SNV T38S 0 0 0.003 0 0 0 0 1 0 0 0 0 19 311268 chr7 1526346 1526346 T C rs1012294605 INTS1 Nonsynonymous SNV D964G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.61 311269 chr7 2020094 2020094 G A rs193231481 MAD1L1 Nonsynonymous SNV T408M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 311270 chr7 2623911 2623911 C T rs61757091 IQCE Synonymous SNV T207T 0.001 0 0.007 0 1 0 0 2 0 0 0 0 Benign 11.99 311271 chr2 55566679 55566679 C T rs774806527 CCDC88A Nonsynonymous SNV R480Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 311272 chr2 61577411 61577411 G A rs753119409 USP34 Synonymous SNV P497P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 311273 chr21 33692920 33692920 C T URB1 Nonsynonymous SNV A1839T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311274 chr16 845965 845965 A G CHTF18 Nonsynonymous SNV S782G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 311275 chr7 15666514 15666514 C G rs779485604 MEOX2 Nonsynonymous SNV V183L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 311276 chr2 72359477 72359477 C T rs368475843 CYP26B1 Nonsynonymous SNV R398H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 311277 chr2 74588683 74588683 G A DCTN1 Synonymous SNV H1121H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.166 311278 chr2 74842263 74842263 T C rs767684661 M1AP Nonsynonymous SNV N85S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 311279 chr17 61428738 61428738 T G rs773519341 TANC2 Synonymous SNV S571S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.064 311280 chr21 46032116 46032116 C T KRTAP10-8 Synonymous SNV P33P 0 0 0.007 0 0 0 0 2 0 0 0 0 1.757 311281 chr21 46910216 46910216 G A rs550223927 COL18A1 Nonsynonymous SNV G843R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 311282 chr7 39125607 39125607 G A POU6F2 Nonsynonymous SNV E85K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 311283 chr16 67271195 67271195 G A rs778301531 FHOD1 Synonymous SNV L314L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.954 311284 chr17 11461549 11461549 G A rs755661729 SHISA6 Synonymous SNV T477T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 311285 chr3 100535598 100535598 G A rs745848822 ABI3BP Nonsynonymous SNV R921W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 311286 chr7 44102418 44102418 T G rs140230479 PGAM2 Nonsynonymous SNV E236A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 19.52 311287 chr3 10392235 10392235 C T rs928681391 ATP2B2 Synonymous SNV Q676Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 311288 chr16 70507046 70507046 C T rs369957269 FCSK Nonsynonymous SNV R523W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 311289 chr3 113311855 113311855 T C rs768185278 SIDT1 Synonymous SNV F273F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.843 311290 chr7 127014955 127014955 T C rs147093136 ZNF800 Synonymous SNV Q145Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 311291 chr7 70254986 70254986 C T rs79439293 AUTS2 Synonymous SNV A904A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.33 311292 chr7 73020378 73020378 C T MLXIPL Nonsynonymous SNV V228M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 311293 chr7 73455561 73455561 C T rs41350445 ELN Nonsynonymous SNV A61V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 3.384 311294 chr3 12531382 12531382 G C TSEN2 Nonsynonymous SNV G28A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.998 311295 chr3 129262147 129262147 C T rs769819531 H1FOO Nonsynonymous SNV P29L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 311296 chr22 38477247 38477247 C T rs767096054 SLC16A8 Synonymous SNV G266G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 311297 chr3 130284160 130284160 G A rs778491974 COL6A6 Synonymous SNV K328K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.161 311298 chr7 93516643 93516643 G - rs775109625 TFPI2 Y177Ifs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 311299 chr22 41257854 41257856 CTT - rs548267827 DNAJB7 E48del 0 0 0.003 0 0 0 0 1 0 0 0 0 311300 chr7 97860377 97860377 C T rs776833144 TECPR1 Synonymous SNV P726P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 311301 chr22 46932126 46932126 C T rs202095860 CELSR1 Synonymous SNV E314E 0 0 0.007 0 0 0 0 2 0 0 0 0 7.917 311302 chr22 48025286 48025286 T C LINC00898 0 0 0.007 0 0 0 0 2 0 0 0 0 1.073 311303 chr22 50278046 50278046 G A rs371904225 ZBED4 Nonsynonymous SNV G246S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 311304 chr17 1638979 1638979 C T rs576775253 WDR81 Nonsynonymous SNV R562C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 311305 chr3 170184948 170184948 C T rs200155699 SLC7A14 Synonymous SNV A737A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 311306 chr3 170801990 170801990 T C TNIK Synonymous SNV K949K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.058 311307 chr2 101541716 101541716 C T rs774908891 NPAS2 Synonymous SNV T47T 0 0 0.007 0 0 0 0 2 0 0 0 0 18.27 311308 chr3 180364994 180364994 C T rs201889495 CCDC39 Nonsynonymous SNV R467Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 311309 chr2 10912056 10912056 G A rs374055141 ATP6V1C2 Nonsynonymous SNV V188I 0 0 0.01 0 0 0 0 3 0 0 0 0 29.3 311310 chr3 183994474 183994474 G A ECE2 Nonsynonymous SNV G82D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 311311 chr7 121691516 121691516 A G PTPRZ1 Nonsynonymous SNV Y1173C 0.001 0 0 0 1 0 0 0 0 0 0 0 22 311312 chr2 128389285 128389285 G C rs199875272 MYO7B Nonsynonymous SNV V1710L 0 0 0.007 0 0 0 0 2 0 0 0 0 15.54 311313 chr2 128408826 128408826 G A rs367618747 GPR17 Nonsynonymous SNV V173M 0 0 0.007 0 0 0 0 2 0 0 0 0 12.54 311314 chr2 128471338 128471338 C T WDR33 Nonsynonymous SNV E1043K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 311315 chr8 23003394 23003394 G A rs111569580 TNFRSF10D Nonsynonymous SNV R175W 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 311316 chr2 158140897 158140897 A T GALNT5 Nonsynonymous SNV I520F 0 0 0.007 0 0 0 0 2 0 0 0 0 24.6 311317 chr3 37555284 37555284 G A rs746058456 ITGA9 Nonsynonymous SNV A310T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311318 chr3 37725368 37725368 A G ITGA9 Synonymous SNV K643K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.473 311319 chr7 143175206 143175206 G A rs761627851 TAS2R41 Nonsynonymous SNV G81S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 311320 chr2 174230241 174230241 G A rs544862695 CDCA7 Nonsynonymous SNV R240H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311321 chr2 176957834 176957834 C G HOXD13 Synonymous SNV S72S 0 0 0.007 0 0 0 0 2 0 0 0 0 14.92 311322 chr7 149152656 149152656 G A rs371517010 ZNF777 Nonsynonymous SNV P153L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 311323 chr2 179427578 179427578 C G rs371788070 TTN Nonsynonymous SNV V18696L 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 22.9 311324 chr7 149522992 149522992 C T SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 311325 chr8 91013743 91013743 T G rs753452262 DECR1 Nonsynonymous SNV F8C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 311326 chr19 11660441 11660441 A G rs148602672 CNN1 Nonsynonymous SNV N242S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.245 311327 chr3 47890827 47890827 C A rs145877201 DHX30 Synonymous SNV P1025P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 311328 chr3 48462638 48462638 G A rs370102695 PLXNB1 Synonymous SNV A603A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 311329 chr15 85186707 85186707 G A WDR73 Synonymous SNV P377P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.321 311330 chr19 13414378 13414378 G A CACNA1A Synonymous SNV N719N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 311331 chr15 85383751 85383751 C G rs758630539 ALPK3 Nonsynonymous SNV S414C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 311332 chr17 4082252 4082252 C T rs919867847 ANKFY1 Nonsynonymous SNV R875Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311333 chr8 1728631 1728631 G T CLN8 Nonsynonymous SNV K253N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 311334 chr2 202074150 202074150 A G rs769367739 CASP10 Nonsynonymous SNV Q360R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.246 311335 chr8 8869091 8869091 T C rs763027684 ERI1 Synonymous SNV Y31Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 311336 chr3 68055801 68055801 T C rs780034173 TAFA1 Nonsynonymous SNV L11P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 311337 chr8 20107703 20107703 G A rs372940217 LZTS1 Nonsynonymous SNV R441C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311338 chr2 219208226 219208226 G A rs759669801 PNKD Nonsynonymous SNV R238Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 311339 chr3 97887621 97887621 C G rs188567114 OR5H15 Synonymous SNV P26P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.58 311340 chr8 145154442 145154442 G C rs767343694 SHARPIN Nonsynonymous SNV H247D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 311341 chr3 9988032 9988032 G A PRRT3 Nonsynonymous SNV P942L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 311342 chr8 145662359 145662359 C T rs374597491 TONSL-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.892 311343 chr8 145737086 145737086 C T rs34914400 RECQL4 Synonymous SNV V1160V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.45 311344 chr8 30702342 30702342 C T rs747809375 TEX15 Nonsynonymous SNV D1781N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.718 311345 chr8 146017180 146017180 C T rs11539905 RPL8 Synonymous SNV Q86Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.964 311346 chr9 214991 214991 G A rs148276394 DOCK8 Synonymous SNV P5P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.102 311347 chr2 232104718 232104718 C T rs775687932 ARMC9 Synonymous SNV S281S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.47 311348 chr8 39111996 39111996 C T ADAM32 Nonsynonymous SNV R557C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 311349 chr9 2084097 2084097 C T SMARCA2 Synonymous SNV A809A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 311350 chr8 39624438 39624438 A G rs139093110 ADAM2 Nonsynonymous SNV L460P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 311351 chr16 19711792 19711792 G C rs140163660 VPS35L Nonsynonymous SNV R869S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 311352 chr9 5920528 5920528 G A rs201727651 KIAA2026 Nonsynonymous SNV T1823M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.669 311353 chr16 20750386 20750386 T C rs150358594 THUMPD1 Nonsynonymous SNV D80G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.35 311354 chr8 61654720 61654720 C T rs371398600 CHD7 Synonymous SNV P243P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.038 311355 chr4 122723926 122723926 G A rs201639791 EXOSC9 Nonsynonymous SNV A87T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 311356 chr8 69017470 69017470 C T PREX2 Nonsynonymous SNV P938L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.531 311357 chr8 71619173 71619173 G A XKR9 Stop gain W93X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 311358 chr19 33372873 33372873 C T rs181626301 CEP89 Nonsynonymous SNV R671H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 311359 chr16 29859231 29859231 C T MVP Nonsynonymous SNV P802L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.708 311360 chr19 55450417 55450417 C T rs146699360 NLRP7 Synonymous SNV P590P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.43 311361 chr4 154477000 154477000 G A TMEM131L Nonsynonymous SNV V124I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 311362 chr8 104927741 104927741 A T RIMS2 Nonsynonymous SNV T466S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 311363 chr18 19100708 19100708 G A GREB1L Synonymous SNV V1844V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.62 311364 chr2 29225531 29225531 - G rs781480711 TOGARAM2 Frameshift insertion A187Gfs*39 0 0 0.007 0 0 0 0 2 0 0 0 0 311365 chr4 174242811 174242811 T C GALNT7 Synonymous SNV N639N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.313 311366 chr2 32889443 32889443 A G rs761456265 TTC27 Synonymous SNV A188A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.47 311367 chr16 4911000 4911000 G A rs149384361 UBN1 Nonsynonymous SNV S336N 0 0 0 1 0 0 0.003 0 0 0 0 0 9.672 311368 chr2 44099394 44099394 C T rs150654176 ABCG8 Nonsynonymous SNV P386L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.104 311369 chr16 56852643 56852643 C T rs966758586 NUP93 Nonsynonymous SNV A63V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 311370 chr19 58907938 58907938 C T rs1014199321 RNF225 Nonsynonymous SNV P161L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 311371 chr2 62433003 62433003 G A rs528622272 MIR5192 0 0 0.007 0 0 0 0 2 0 0 0 0 5.638 311372 chr4 2930053 2930053 G A rs749385850 ADD1 Nonsynonymous SNV A673T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.747 311373 chr16 67318231 67318231 G A rs778817800 PLEKHG4 Synonymous SNV A440A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.504 311374 chr2 6990033 6990033 T C rs6712141 CMPK2 Nonsynonymous SNV K433R 0 0 0.014 0 0 0 0 4 0 0 0 0 8.734 311375 chr8 144887161 144887161 G A rs782361081 SCRIB Synonymous SNV A898A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 311376 chr4 37447308 37447308 G A rs569100480 NWD2 Nonsynonymous SNV R1233H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 311377 chr8 144995292 144995292 G A rs200383203 PLEC Synonymous SNV S2885S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 3.33 311378 chr2 74653396 74653396 G A RTKN Nonsynonymous SNV R556C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 311379 chr4 43032469 43032469 G A rs146696590 GRXCR1 Nonsynonymous SNV R262Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 311380 chr9 123550140 123550140 G A FBXW2 Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.277 311381 chr19 45430165 45430165 A T rs185401840 APOC1P1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.911 311382 chr9 3879568 3879568 C A rs963677142 GLIS3 Nonsynonymous SNV S564I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 311383 chr9 4118157 4118157 C T rs778176935 GLIS3 Nonsynonymous SNV V286I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 311384 chr2 99204053 99204053 C T rs761409520 INPP4A Synonymous SNV Y917Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 311385 chr4 6925564 6925564 C T rs200567309 TBC1D14 Nonsynonymous SNV R150C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311386 chr9 27180300 27180300 A G rs749678742 TEK Nonsynonymous SNV M322V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 311387 chr9 32433803 32433803 C A rs61752944 ACO1 Synonymous SNV I643I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.07 311388 chr4 74964793 74964793 G A CXCL2 Synonymous SNV L15L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.244 311389 chr9 34657470 34657470 G T rs375021779 IL11RA Nonsynonymous SNV A178S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.803 311390 chr4 78528885 78528885 G A rs143408885 CXCL13 Synonymous SNV L31L 0 0 0.007 0 0 0 0 2 0 0 0 0 1.472 311391 chr16 88643997 88643999 GAG - rs771517098 ZC3H18 E157del 0 0 0 1 0 0 0.003 0 0 0 0 0 311392 chr4 80976544 80976544 G A rs758556230 ANTXR2 Synonymous SNV D152D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 311393 chr19 50155798 50155798 C T rs373236393 SCAF1 Nonsynonymous SNV P718S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.535 311394 chr19 50312647 50312647 G A rs752722303 FUZ Synonymous SNV H190H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.28 311395 chr4 8583128 8583128 C G rs372133797 GPR78 Nonsynonymous SNV A140G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.331 311396 chr4 87745007 87745007 T C SLC10A6 Nonsynonymous SNV N323S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 311397 chr3 128292334 128292334 C G rs145019605 LINC01565 0 0 0.007 0 0 0 0 2 0 0 0 0 2.343 311398 chr9 78911664 78911664 G A rs199622036 PCSK5 Nonsynonymous SNV E1136K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 311399 chr4 952099 952099 A G rs755562202 TMEM175 Nonsynonymous SNV S362G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 311400 chr3 132244504 132244504 A G rs146881465 DNAJC13 Synonymous SNV A2037A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.103 311401 chr4 99339835 99339835 A G rs199695740 RAP1GDS1 Nonsynonymous SNV N265S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.637 311402 chr9 91606031 91606031 C A rs767041180 C9orf47 Nonsynonymous SNV P41T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 311403 chr9 91606806 91606806 C T rs142040832 C9orf47 Nonsynonymous SNV T171I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.019 311404 chr3 13860673 13860673 T C WNT7A Nonsynonymous SNV K273R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.74 311405 chr9 95608581 95608581 C G rs149463658 ZNF484 Nonsynonymous SNV V794L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.117 311406 chr17 1631212 1631212 T - WDR81 F987Lfs*5 0 0 0 1 0 0 0.003 0 0 0 0 0 311407 chr5 111756017 111756017 G A rs551836619 EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 35 311408 chr3 142242851 142242851 T C rs763554358 ATR Nonsynonymous SNV K1315R 0 0 0.007 0 0 0 0 2 0 0 0 0 16.51 311409 chr9 101891246 101891246 C T rs145033378 TGFBR1 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.68 311410 chr9 103064495 103064495 C G rs193026865 TEX10 Nonsynonymous SNV S907T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.833 311411 chr5 132159990 132159990 G T rs145785113 SHROOM1 Nonsynonymous SNV Q455K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 311412 chr3 169820437 169820437 G A PHC3 Nonsynonymous SNV S876F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 311413 chr9 112963645 112963645 C G C9orf152 Nonsynonymous SNV R101S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.553 311414 chr9 113194764 113194764 G A rs201201604 SVEP1 Synonymous SNV N1737N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.114 311415 chr5 140048329 140048329 C T rs367923106 WDR55 Synonymous SNV I171I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 311416 chr3 184045189 184045189 G A rs112176450 EIF4G1 Nonsynonymous SNV R1010H 0 0 0.003 0 0 0 0 1 0 0 0 0 risk factor 29.2 311417 chr17 31322555 31322555 G A SPACA3 Nonsynonymous SNV A55T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.53 311418 chr5 140755771 140755771 C T rs185484474 PCDHGA6 Synonymous SNV F707F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 311419 chr9 123253597 123253597 G A rs375317489 CDK5RAP2 Synonymous SNV D490D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.351 311420 chr9 123586903 123586903 C T rs150588580 PSMD5 Nonsynonymous SNV R249H 0.002 0 0 0 2 0 0 0 0 0 0 0 26.7 311421 chr5 141337391 141337391 - GCAGAAGTT rs750356729 PCDH12 L8_L9insQLL 0 0 0.003 0 0 0 0 1 0 0 0 0 311422 chr9 123837036 123837036 A - C5 C27Afs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 311423 chr9 112017930 112017930 G A rs747369406 EPB41L4B Nonsynonymous SNV R344W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 311424 chr3 33155657 33155657 C A rs553076085 CRTAP Nonsynonymous SNV R30S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.2 311425 chr9 131468050 131468050 G C rs748058657 PKN3 Nonsynonymous SNV Q101H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 311426 chr9 133804986 133804986 C T rs138531141 FIBCD1 Nonsynonymous SNV A174T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.02 311427 chr5 176815004 176815004 G A rs150592440 SLC34A1 Synonymous SNV A218A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.32 311428 chr19 18119848 18119848 G A rs1046806 ARRDC2 Nonsynonymous SNV R132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311429 chr5 178392252 178392252 C T ZNF454 Stop gain R283X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 311430 chr5 179147481 179147481 G A rs199941318 CANX Nonsynonymous SNV V260I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 311431 chr3 48604576 48604576 G A rs199936185 COL7A1 Synonymous SNV G2698G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 8.369 311432 chr9 131037693 131037693 G C rs960677633 SWI5 Nonsynonymous SNV E3Q 0 0 0 1 0 0 0.003 0 0 0 0 0 11.66 311433 chr9 140248802 140248802 C T rs200800168 EXD3 Nonsynonymous SNV D287N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 311434 chr10 76993948 76993948 T G rs117429494 COMTD1 Nonsynonymous SNV K224N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.219 311435 chr3 52861113 52861113 C T rs148418409 ITIH4 Nonsynonymous SNV V118I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.14 311436 chr17 45885930 45885930 G A OSBPL7 Synonymous SNV N798N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.48 311437 chr19 2248303 2248303 G A rs115008403 SF3A2 Nonsynonymous SNV A385T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.2 311438 chr19 2416762 2416762 C T rs368599064 TMPRSS9 Nonsynonymous SNV R624W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 311439 chr5 40841682 40841682 A G rs774256650 CARD6 Synonymous SNV K66K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 311440 chr17 47583847 47583847 C T rs140781803 NGFR Nonsynonymous SNV S132L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 22.1 311441 chr5 41161865 41161865 C G rs755509787 C6 Nonsynonymous SNV G463A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 311442 chr17 49257991 49257991 C T rs370630316 MBTD1 Synonymous SNV A611A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.93 311443 chr5 52779449 52779449 C G rs752495972 FST Synonymous SNV V131V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 311444 chr10 96110027 96110027 A - rs564137729 NOC3L L324Rfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 311445 chr1 201061111 201061111 G A rs141204958 CACNA1S Nonsynonymous SNV S177L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 311446 chr10 21177068 21177068 A G rs751415680 NEBL Synonymous SNV I109I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 311447 chr1 110301047 110301047 G A rs768246585 EPS8L3 Nonsynonymous SNV P170L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.675 311448 chr4 107253029 107253029 C T rs138106524 AIMP1 Nonsynonymous SNV P198S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 25.5 311449 chr10 101824957 101824957 C T rs74152964 CPN1 Synonymous SNV K249K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.84 311450 chr5 76331451 76331451 A G rs144062565 AGGF1 Synonymous SNV E133E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.164 311451 chr4 121719496 121719496 C T rs369580755 PRDM5 Nonsynonymous SNV E341K 0 0 0.007 0 0 0 0 2 0 0 0 0 34 311452 chr4 123249392 123249392 C T rs75040092 KIAA1109 Nonsynonymous SNV P3710L 0 0 0.007 0 0 0 0 2 0 0 0 0 22.7 311453 chr10 46967590 46967590 G A rs374787280 LOC102724488, SYT15 Nonsynonymous SNV R47W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 311454 chr10 46999219 46999221 TGC - rs782458109 GPRIN2 A116del 0.001 0 0 0 1 0 0 0 0 0 0 0 311455 chr17 7100226 7100226 C T rs574062702 DLG4 Synonymous SNV P251P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.15 311456 chr5 89769674 89769674 T C rs764361931 MBLAC2 Nonsynonymous SNV T146A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 311457 chr5 89814846 89814846 C T rs375143397 LYSMD3 Synonymous SNV L237L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.92 311458 chr5 89953819 89953819 T A ADGRV1 Synonymous SNV L1492L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.804 311459 chr10 49929412 49929412 G A rs369930156 WDFY4 Synonymous SNV S152S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 311460 chr10 13213022 13213022 T C rs137855341 MCM10 Synonymous SNV N36N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.037 311461 chr10 50828612 50828612 C T rs575515952 CHAT Synonymous SNV A99A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.43 311462 chr10 120489828 120489828 G A rs41284412 CACUL1 Synonymous SNV D154D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.059 311463 chr10 60573731 60573731 A G BICC1 Nonsynonymous SNV K840E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 311464 chr4 159780242 159780242 A T rs200960984 FNIP2 Nonsynonymous SNV E320D 0 0 0.007 0 0 0 0 2 0 0 0 0 13.54 311465 chr10 70405069 70405069 T C rs758581825 TET1 Synonymous SNV N861N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 311466 chr6 109907171 109907171 C A AK9 Nonsynonymous SNV K649N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 311467 chr10 71640298 71640298 C T COL13A1 Nonsynonymous SNV R138C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 311468 chr10 71883680 71883680 C T rs771383095 AIFM2 Nonsynonymous SNV R54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311469 chr10 72513617 72513617 C T rs200901270 ADAMTS14 Nonsynonymous SNV R931W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 311470 chr17 74729103 74729105 GTG - METTL23 G44del 0 0 0 1 0 0 0.003 0 0 0 0 0 311471 chr10 73453962 73453962 C T rs368841307 CDH23 Synonymous SNV I745I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.65 311472 chr10 135012437 135012437 G A rs761282775 KNDC1 Nonsynonymous SNV G809R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.388 311473 chr4 1918760 1918760 T C rs967018941 NSD2 Nonsynonymous SNV I308T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 311474 chr6 134436325 134436325 G A rs1036826203 HMGA1P7 0 0 0.003 0 0 0 0 1 0 0 0 0 4.366 311475 chr4 2461846 2461846 G A rs112369376 CFAP99 Nonsynonymous SNV R513H 0 0 0.007 0 0 0 0 2 0 0 0 0 23.3 311476 chr6 138417552 138417552 G A rs61730263 PERP Synonymous SNV A98A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.44 311477 chr1 158298738 158298738 C T rs371461731 CD1B Nonsynonymous SNV C318Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.09 311478 chr10 85954572 85954572 G A rs547198427 CDHR1 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 24.5 311479 chr11 397387 397387 G T rs753165343 PKP3 Nonsynonymous SNV D296Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 311480 chr10 91066284 91066284 T C IFIT2 Nonsynonymous SNV S191P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.051 311481 chr10 94264631 94264631 G A IDE Synonymous SNV L411L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.255 311482 chr1 16070718 16070718 G A rs369364468 TMEM82 Nonsynonymous SNV G134R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 311483 chr4 48569322 48569322 T C rs758102714 FRYL Nonsynonymous SNV K1038E 0 0 0.007 0 0 0 0 2 0 0 0 0 23.8 311484 chr6 159206569 159206569 A T rs551137035 EZR Nonsynonymous SNV F80Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 311485 chr4 5527116 5527116 T - rs75708175 LINC01587 0 0 0.007 0 0 0 0 2 0 0 0 0 311486 chr1 16532107 16532107 A G rs772890990 ARHGEF19 Nonsynonymous SNV C503R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 311487 chr1 169394117 169394117 C A rs755125820 CCDC181 Nonsynonymous SNV D17Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 311488 chr6 165848815 165848815 G A rs1025216646 PDE10A Synonymous SNV L149L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 311489 chr10 102824105 102824105 T C rs755285725 KAZALD1 Nonsynonymous SNV M62T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 311490 chr10 105218071 105218071 G T rs755172682 CALHM1 Synonymous SNV G146G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 311491 chr1 171810904 171810904 G A rs200969795 DNM3 Synonymous SNV V36V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.15 311492 chr10 105727653 105727653 G A rs772960805 SLK Synonymous SNV K50K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 311493 chr10 114053793 114053793 C G TECTB Synonymous SNV P215P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 311494 chr6 25517578 25517578 T G CARMIL1 Synonymous SNV T603T 0 0 0.003 0 0 0 0 1 0 0 0 0 11 311495 chr10 99968710 99968710 C T R3HCC1L Nonsynonymous SNV T280I 0 0 0 2 0 0 0.005 0 0 0 0 0 14.73 311496 chr6 33632961 33632961 C T rs780808015 ITPR3 Synonymous SNV N460N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.424 311497 chr10 100013476 100013476 A G rs372455342 LOXL4 Nonsynonymous SNV Y557H 0 0 0 2 0 0 0.005 0 0 0 0 0 23.1 311498 chr18 347166 347166 T C rs139169208 COLEC12 Synonymous SNV Q152Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.012 311499 chr4 88372772 88372772 C T NUDT9 Nonsynonymous SNV A193V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 311500 chr1 184853810 184853810 C T rs116820598 NIBAN1 Synonymous SNV R186R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.78 311501 chr6 35704963 35704963 G T ARMC12 Synonymous SNV G26G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.931 311502 chr4 96762396 96762396 C T rs866169818 PDHA2 Synonymous SNV H365H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.784 311503 chr10 135011951 135011951 G A rs959413150 KNDC1 Nonsynonymous SNV E673K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.695 311504 chr5 121488001 121488001 T C ZNF474 Nonsynonymous SNV S106P 0 0 0.007 0 0 0 0 2 0 0 0 0 24.9 311505 chr6 43305285 43305285 G T ZNF318 Nonsynonymous SNV L2151I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 311506 chr5 132159706 132159706 C T rs760856841 SHROOM1 Synonymous SNV L549L 0 0 0.007 0 0 0 0 2 0 0 0 0 11.3 311507 chr6 65301882 65301882 C A rs763158109 EYS Nonsynonymous SNV G1293V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.953 311508 chr6 7246900 7246900 C T RREB1 Nonsynonymous SNV A1351V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 311509 chr1 207198366 207198366 C T C1orf116 Nonsynonymous SNV C50Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 311510 chr6 74210346 74210346 A G rs759983774 MTO1 Nonsynonymous SNV N656S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 311511 chr6 78400517 78400517 G A MEI4 Synonymous SNV E43E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.907 311512 chr11 11374355 11374355 A G rs762925427 CSNK2A3 Synonymous SNV P104P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.732 311513 chr5 147499677 147499677 T G rs201815688 SPINK5 Nonsynonymous SNV C807G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.8 311514 chr5 149630278 149630278 G A rs142245972 CAMK2A Synonymous SNV A263A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.56 311515 chr19 14675037 14675037 C T rs377297818 TECR Synonymous SNV L143L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.18 311516 chr19 14676649 14676649 C T rs371148869 TECR Nonsynonymous SNV P298L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 311517 chr1 1167833 1167833 C T B3GALT6 Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.098 311518 chr5 167835552 167835552 G A rs375838421 WWC1 Nonsynonymous SNV G254E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 311519 chr1 76387909 76387909 G C rs778698257 ASB17 Nonsynonymous SNV I179M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 311520 chr1 76387910 76387910 A T rs748161750 ASB17 Nonsynonymous SNV I179N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 311521 chr5 167919679 167919679 A G rs758265905 RARS Nonsynonymous SNV R66G 0 0 0.007 0 0 0 0 2 0 0 0 0 22.6 311522 chr5 169021233 169021233 G A rs142049273 SPDL1 Nonsynonymous SNV D206N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.96 311523 chr5 170818371 170818371 C T rs200294440 NPM1 Synonymous SNV Y3Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 311524 chr5 171773143 171773143 G A rs186880516 SH3PXD2B Synonymous SNV V395V 0 0 0.007 0 0 0 0 2 0 0 0 0 14.95 311525 chr1 228521349 228521349 C T rs748739794 OBSCN Nonsynonymous SNV R5308C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 311526 chr11 46701765 46701765 C T rs61752936 ARHGAP1 Synonymous SNV K296K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 311527 chr5 176638961 176638961 T C rs773283312 NSD1 Synonymous SNV F1187F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.271 311528 chr11 47203983 47203983 G A rs7106654 PACSIN3 Nonsynonymous SNV A61V 0.001 0 0 0 1 0 0 0 0 0 0 0 29 311529 chr7 100731027 100731027 G A rs200821663 TRIM56 Nonsynonymous SNV R145H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 311530 chr7 104844230 104844230 G A SRPK2 Nonsynonymous SNV P14L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 311531 chr19 9077366 9077366 G A MUC16 Synonymous SNV V3360V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.166 311532 chr11 5625833 5625833 A T rs147571399 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV I193F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 311533 chr5 32061143 32061143 A G rs749268482 PDZD2 Nonsynonymous SNV N785S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.326 311534 chr7 114269985 114269985 A G rs368614280 FOXP2 Synonymous SNV Q174Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.734 311535 chr7 120428731 120428731 A G rs151200827 TSPAN12 Nonsynonymous SNV L278P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.3 311536 chr7 121668650 121668650 C G PTPRZ1 Nonsynonymous SNV S818C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 311537 chr7 121698985 121698985 T C PTPRZ1 Synonymous SNV I1353I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.737 311538 chr11 6567778 6567778 T C DNHD1 Nonsynonymous SNV L1870P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 311539 chr5 38950651 38950651 T C RICTOR Nonsynonymous SNV N1100S 0 0 0.007 0 0 0 0 2 0 0 0 0 6.547 311540 chr5 41929906 41929906 G A rs563591124 FBXO4 Nonsynonymous SNV R178Q 0 0 0.007 0 0 0 0 2 0 0 0 0 27.6 311541 chr11 55904782 55904782 C T rs146251646 OR8J3 Nonsynonymous SNV R138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.377 311542 chr5 50055502 50055502 G A rs777770962 PARP8 Synonymous SNV E70E 0 0 0.007 0 0 0 0 2 0 0 0 0 11.34 311543 chr7 134719319 134719319 G T AGBL3 Nonsynonymous SNV R326L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311544 chr7 139107012 139107012 C T rs754703629 FMC1-LUC7L2, LUC7L2 Nonsynonymous SNV R369W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 311545 chr5 66479689 66479689 G C rs148500952 CD180 Nonsynonymous SNV L328V 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 311546 chr7 142760143 142760143 C T rs140052668 OR6W1P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 311547 chr20 19662536 19662536 A G SLC24A3 Nonsynonymous SNV R268G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 311548 chr11 56230268 56230268 T C rs79774767 OR5M9 Nonsynonymous SNV N204D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 311549 chr11 56310149 56310149 C T rs144332728 OR5M11 Synonymous SNV E195E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.104 311550 chr1 2704148 2704148 C T TTC34 Synonymous SNV K584K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.415 311551 chr11 56409533 56409533 C T rs61743175 OR5AP2 Nonsynonymous SNV R128H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 311552 chr11 56431998 56431998 G A rs61742850 OR5AR1 Synonymous SNV T279T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.134 311553 chr5 75936913 75936913 T G rs201322324 IQGAP2 Nonsynonymous SNV N643K 0 0 0.007 0 0 0 0 2 0 0 0 0 13.74 311554 chr5 79498818 79498818 T G SERINC5 Synonymous SNV R28R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 311555 chr7 15433777 15433777 G C rs142034204 AGMO Nonsynonymous SNV L213V 0 0 0.007 0 0 0 0 2 0 0 0 0 17.06 311556 chr7 155151060 155151060 C T rs77846830 BLACE 0 0 0.007 0 0 0 0 2 0 0 1 0 3.923 311557 chr11 34378450 34378450 T C rs771658920 ABTB2 Synonymous SNV A227A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 311558 chr5 94027322 94027322 C G SLF1 Nonsynonymous SNV L825V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.224 311559 chr7 2041705 2041705 C G rs747634272 MAD1L1 Nonsynonymous SNV D379H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 311560 chr7 21468361 21468361 C T rs766032968 SP4 Nonsynonymous SNV T8I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 311561 chr7 23776600 23776600 T C rs748482711 STK31 Nonsynonymous SNV I284T 0 0 0.003 0 0 0 0 1 0 0 0 0 26 311562 chr19 39108034 39108034 G A rs35079766 MAP4K1 Nonsynonymous SNV R70W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 311563 chr6 112463451 112463451 A G LAMA4 Nonsynonymous SNV V846A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 311564 chr7 28280443 28280443 C T JAZF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.315 311565 chr6 128294822 128294822 T C PTPRK Nonsynonymous SNV I1373V 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 311566 chr6 134491490 134491490 G A rs761047169 SGK1 Synonymous SNV S360S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 311567 chr1 53569090 53569090 C T rs144184387 SLC1A7 Nonsynonymous SNV V137I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 311568 chr7 45125695 45125695 C T rs562528462 NACAD Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 311569 chr1 6008176 6008176 G A rs761345213 NPHP4 Nonsynonymous SNV R316C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 311570 chr11 66107662 66107662 G A rs145163737 BRMS1 Synonymous SNV H186H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.576 311571 chr6 152683455 152683455 T C rs369227827 SYNE1 Synonymous SNV Q3390Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.059 311572 chr6 158900925 158900925 G A rs150475135 TULP4 Nonsynonymous SNV R390H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 311573 chr6 158994503 158994503 G T rs774449960 TMEM181 Synonymous SNV V157V 0 0 0.007 0 0 0 0 2 0 0 0 0 11.43 311574 chr11 70007807 70007807 C T rs557532554 ANO1 Synonymous SNV T620T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 311575 chr6 160577082 160577082 T C SLC22A1 Nonsynonymous SNV M525T 0 0 0.007 0 0 0 0 2 0 0 0 0 23 311576 chr19 47259320 47259320 C G rs753297636 FKRP Nonsynonymous SNV R205G 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.4 311577 chr7 75511205 75511205 C T rs200252846 RHBDD2 Synonymous SNV G79G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 311578 chr11 74204707 74204707 C T rs1032614576 LIPT2 Synonymous SNV V14V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.563 311579 chr7 91503571 91503571 A C rs1011722413 MTERF1 Nonsynonymous SNV N159K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 311580 chr21 31852619 31852619 G T KRTAP19-1 Nonsynonymous SNV S6R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.24 311581 chr1 9100144 9100144 C T SLC2A5 Nonsynonymous SNV D79N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.028 311582 chr7 94054953 94054953 G A rs746504964 COL1A2 Nonsynonymous SNV R938H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 311583 chr7 96810348 96810348 C T SDHAF3 Stop gain Q67X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 311584 chr6 27277240 27277240 - AGACT POM121L2 Frameshift insertion G904Sfs*5 0 0 0.007 0 0 0 0 2 0 0 0 0 311585 chr6 27279582 27279582 G C rs772877636 POM121L2 Nonsynonymous SNV T123S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.135 311586 chr11 62285634 62285634 C T rs149206056 AHNAK Nonsynonymous SNV D5419N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.19 311587 chr21 39671497 39671497 C A rs148451839 KCNJ15 Nonsynonymous SNV T105N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 311588 chr6 33967778 33967778 C T MIR1275 0 0 0.007 0 0 0 0 2 0 0 0 0 6.108 311589 chr6 35259164 35259164 T C rs150775750 ZNF76 Synonymous SNV H245H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.021 311590 chr11 63960589 63960589 G A rs769617573 STIP1 Nonsynonymous SNV V64M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 311591 chr6 36689308 36689308 C T rs886400335 RAB44 Nonsynonymous SNV P466L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.112 311592 chr11 64128029 64128029 G A rs138221123 RPS6KA4 Nonsynonymous SNV G143S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 311593 chr6 38863873 38863873 A G rs750596317 DNAH8 Nonsynonymous SNV I2721V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.611 311594 chr11 108129732 108129732 C T rs199954262 ATM Nonsynonymous SNV A799V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.751 311595 chr8 124453632 124453632 C T rs911948342 WDYHV1 Nonsynonymous SNV R139W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 311596 chr20 18163817 18163817 G T KAT14 Nonsynonymous SNV R620L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 311597 chr11 64900521 64900521 C T rs772856778 SYVN1 Nonsynonymous SNV A84T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 311598 chr6 42583798 42583798 C T UBR2 Synonymous SNV Y384Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 311599 chr8 126017783 126017783 T C rs367919448 SQLE Synonymous SNV L187L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.834 311600 chr19 52941489 52941489 A G ZNF534 Nonsynonymous SNV Q231R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 311601 chr11 65735048 65735048 A G rs747964570 SART1 Nonsynonymous SNV S474G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 311602 chr11 66101527 66101527 C A rs749622372 RIN1 Nonsynonymous SNV S457I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 311603 chr8 135649846 135649846 C T rs747221023 ZFAT Synonymous SNV P90P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.069 311604 chr11 67051378 67051378 C T rs766786545 GRK2 Synonymous SNV F483F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 311605 chr6 49494341 49494341 G A rs543012165 GLYATL3 Nonsynonymous SNV R194Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 311606 chr11 71146522 71146522 G A rs535561852 DHCR7 Nonsynonymous SNV R443C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 34 311607 chr6 5545549 5545549 C T rs769518528 FARS2 Synonymous SNV N347N 0 0 0.007 0 0 0 0 2 0 0 0 0 7.272 311608 chr6 56484654 56484654 T C rs997504834 DST Nonsynonymous SNV Q1393R 0 0 0.007 0 0 0 0 2 0 0 0 0 12.26 311609 chr6 86200236 86200236 C G rs146166792 NT5E Synonymous SNV T407T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.15 311610 chr11 82996929 82996929 C A rs745791216 CCDC90B Synonymous SNV P29P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 311611 chr22 32914185 32914185 C T rs201331357 SYN3 Synonymous SNV P484P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 311612 chr22 32111823 32111823 T C rs539975219 PRR14L Nonsynonymous SNV T668A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 311613 chr11 96116556 96116556 C T rs140141313 CCDC82 Nonsynonymous SNV G290R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 311614 chr8 20111044 20111044 C T rs771666520 LZTS1 Nonsynonymous SNV R133Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25 311615 chr8 22458675 22458675 A C rs753548607 C8orf58 Synonymous SNV R107R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 311616 chr7 100550800 100550800 - AGACCACATCCCACAATACTCCCAGCCTCACTTCTTCAATCACCACCACCA MUC3A H465_S466insNTPSLTSSITTTKTTSH 0 0 0.003 0 0 0 0 1 0 0 0 0 311617 chr11 108005918 108005918 A G rs374439037 ACAT1 Synonymous SNV S128S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.626 311618 chr8 27737189 27737189 G A rs376007799 SCARA5 Synonymous SNV T416T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 311619 chr11 111753280 111753280 T G rs782455856 C11orf1 Stop gain Y78X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 311620 chr22 42273963 42273963 G A rs200675940 SREBF2 Nonsynonymous SNV D533N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 311621 chr7 107053002 107053002 C T rs368331483 COG5 Nonsynonymous SNV R236Q 0 0 0.007 0 0 0 0 2 0 0 0 0 28.3 311622 chr22 50658165 50658165 G A rs142798996 TUBGCP6 Nonsynonymous SNV A1408V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.35 311623 chr7 120971884 120971884 G A rs746483900 WNT16 Nonsynonymous SNV G157S 0 0 0.007 0 0 0 0 2 0 0 0 0 29.4 311624 chr8 72965878 72965878 G T rs983098838 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.198 311625 chr2 109002827 109002827 A G rs763503044 SULT1C4 Synonymous SNV K190K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 311626 chr22 50893066 50893066 G A SBF1 Nonsynonymous SNV P1615S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.439 311627 chr8 87076474 87076474 T C rs368729222 PSKH2 Nonsynonymous SNV Y191C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 311628 chr8 87081851 87081851 T C rs200752513 PSKH2 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 311629 chr8 95188796 95188796 C T CDH17 Nonsynonymous SNV G133S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 311630 chr12 48188624 48188624 C T rs770321899 HDAC7 Synonymous SNV V422V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.948 311631 chr9 103060229 103060229 G A rs375774619 INVS Nonsynonymous SNV E684K 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 24.2 311632 chr11 128642843 128642843 G A rs201742274 FLI1 Synonymous SNV T184T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.41 311633 chr7 141837272 141837272 C T MGAM2 Nonsynonymous SNV T296M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 311634 chr9 107646755 107646755 C T rs773179816 ABCA1 Synonymous SNV P85P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.56 311635 chr9 113173557 113173557 C T rs750478793 SVEP1 Nonsynonymous SNV R2145Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 311636 chr9 113233837 113233837 T C rs192118727 SVEP1 Synonymous SNV E935E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.441 311637 chr1 4829918 4829918 G C AJAP1 Nonsynonymous SNV A279P 0.001 0 0 0 1 0 0 0 0 0 0 0 27 311638 chr7 149171787 149171787 G A ZNF746 Synonymous SNV T542T 0 0 0.007 0 0 0 0 2 0 0 0 0 10.84 311639 chr7 151874712 151874712 C T rs746659124 KMT2C Nonsynonymous SNV R2609Q 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 311640 chr1 11595175 11595175 A G DISP3 Nonsynonymous SNV I1215V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 311641 chr7 158827290 158827290 C T rs143405207 VIPR2 Synonymous SNV P271P 0 0 0.007 0 0 0 0 2 0 0 0 0 17.22 311642 chr1 11737657 11737657 C T rs140482494 MAD2L2 Synonymous SNV P58P 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 311643 chr7 1786235 1786235 A G ELFN1 Nonsynonymous SNV K668R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.166 311644 chr9 124585024 124585024 G A TTLL11 Nonsynonymous SNV R749C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 311645 chr12 56115029 56115029 C T rs749791034 RDH5 Nonsynonymous SNV R21W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 311646 chr12 56755379 56755382 TGAG - APOF T203Kfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 311647 chr7 30651765 30651765 T C GARS Nonsynonymous SNV L258S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 311648 chr9 131198095 131198095 G A rs778783636 CERCAM Nonsynonymous SNV G489S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 311649 chr12 57442060 57442060 C A rs201000642 MYO1A Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.28 311650 chr1 146726547 146726547 T G rs781953321 CHD1L Nonsynonymous SNV L16W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 311651 chr1 149939383 149939383 T C rs199952869 OTUD7B Nonsynonymous SNV H113R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.98 311652 chr9 132662311 132662311 G A rs138991769 FNBP1 Synonymous SNV D511D 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.757 311653 chr9 134343120 134343122 CAG - PRRC2B Q637del 0 0 0.003 0 0 0 0 1 0 0 0 0 311654 chr1 151342242 151342242 G T SELENBP1 Nonsynonymous SNV T3K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.601 311655 chr7 47344529 47344529 G A rs781756384 TNS3 Nonsynonymous SNV T908M 0 0 0.007 0 0 0 0 2 0 0 0 0 10.53 311656 chr7 47925581 47925581 T G rs143538574 PKD1L1 Nonsynonymous SNV N970H 0 0 0.01 0 0 0 0 3 0 0 0 0 0.057 311657 chr1 153233488 153233488 - GGCGGTGGCGGT LOR G28_S29insGGGG 0 0 0 1 0 0 0.003 0 0 0 0 0 311658 chr2 18112777 18112777 C T rs531711402 KCNS3 Nonsynonymous SNV R168W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 311659 chr9 139266456 139266456 G A rs139436668 CARD9 Synonymous SNV I25I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 311660 chr1 154934171 154934171 T C rs934823413 LOC101928120 Nonsynonymous SNV V28A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.427 311661 chr9 139749038 139749038 C T rs368772199 MAMDC4 Nonsynonymous SNV R282C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.7 311662 chr12 45740819 45740819 A G rs377757539 ANO6 Synonymous SNV A98A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.08 311663 chr22 30890896 30890896 C T SEC14L4 Nonsynonymous SNV S159N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 311664 chr7 7629117 7629117 A G rs201263722 MIOS Nonsynonymous SNV K656E 0 0 0.007 0 0 0 0 2 0 0 0 0 16.93 311665 chr12 49171300 49171300 G A rs1019150760 ADCY6 Synonymous SNV L381L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 311666 chr9 140249196 140249196 G A rs187592184 EXD3 Nonsynonymous SNV R263C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 311667 chr7 80290487 80290487 A T rs148114593 CD36 Synonymous SNV T130T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 311668 chr7 82580313 82580313 A T rs200530952 PCLO Nonsynonymous SNV D3197E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.452 311669 chr12 49495037 49495037 T G LMBR1L Nonsynonymous SNV I302L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 311670 chr9 17135315 17135315 G T rs200028190 CNTLN Nonsynonymous SNV M84I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 311671 chr7 97833441 97833441 G A rs142965943 LMTK2 Nonsynonymous SNV A1476T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311672 chr7 98881229 98881229 C T rs545865440 MYH16 0 0 0.007 0 0 0 0 2 0 0 0 0 18.07 311673 chr7 99270276 99270276 A C rs56244447 CYP3A5 Nonsynonymous SNV L82R 0 0 0.007 0 0 0 0 2 0 0 0 0 23.1 311674 chr9 34257552 34257553 TT - KIF24 S685Qfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 311675 chr12 117013808 117013808 C T rs201075334 MAP1LC3B2 Stop gain R21X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 311676 chr12 118827742 118827742 C T rs375696563 SUDS3 Synonymous SNV L117L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 311677 chr12 53215696 53215696 C T rs766944084 KRT79 Nonsynonymous SNV R523Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 311678 chr8 110442170 110442170 T C rs199582110 PKHD1L1 Nonsynonymous SNV Y1045H 0 0 0.007 0 0 0 0 2 0 0 0 0 24.1 311679 chr1 162725023 162725023 G A DDR2 Synonymous SNV R165R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 311680 chr12 121858498 121858498 A G rs201019913 RNF34 Nonsynonymous SNV N90S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 311681 chr1 171527016 171527016 C T PRRC2C Nonsynonymous SNV S1920L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.791 311682 chr20 34806883 34806883 C T rs771712736 EPB41L1 Nonsynonymous SNV P683L 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 311683 chr12 57662183 57662183 G A R3HDM2 Synonymous SNV L613L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 311684 chr22 51159381 51159381 C G SHANK3 Synonymous SNV P1101P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.186 311685 chr12 69991508 69991508 C T rs201201152 CCT2 Nonsynonymous SNV A351V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 311686 chr8 144809099 144809099 G A rs781812004 FAM83H Synonymous SNV S844S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.011 311687 chr8 144940981 144940981 G C EPPK1 Synonymous SNV T2147T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.966 311688 chr12 80655761 80655761 C T OTOGL Synonymous SNV G625G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 311689 chrX 130408737 130408737 T C rs745964986 IGSF1 Nonsynonymous SNV H1187R 0 0 0.007 0 0 0 0 2 0 0 1 0 2.596 311690 chr8 144998001 144998001 C T rs564245730 PLEC Synonymous SNV S2018S 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 6.116 311691 chr13 29287514 29287514 A G rs370487762 SLC46A3 Synonymous SNV L121L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.605 311692 chr2 110962543 110962543 C T NPHP1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 311693 chr12 88505107 88505107 T C CEP290 Nonsynonymous SNV T747A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 311694 chr13 32376509 32376509 A G rs140250507 RXFP2 Synonymous SNV T720T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 311695 chr8 145268010 145268010 G A rs376468888 MROH1 Nonsynonymous SNV A419T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.754 311696 chr8 145947498 145947498 C G rs201656593 ZNF251 Nonsynonymous SNV R516P 0 0 0.007 0 0 0 0 2 0 0 0 0 22.5 311697 chrX 153609135 153609135 C T EMD Nonsynonymous SNV S141F 0 0 0.007 0 0 0 0 2 0 0 1 0 7.838 311698 chr2 120903846 120903846 C G rs761847701 EPB41L5 Nonsynonymous SNV Q592E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 311699 chr2 128387261 128387261 G A rs61744676 MYO7B Nonsynonymous SNV V1530I 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.015 311700 chr2 128477887 128477887 T C WDR33 Nonsynonymous SNV Q571R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 311701 chr2 128522203 128522203 A T rs117753184 WDR33 Stop gain Y275X 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 311702 chr2 241874985 241874985 C T rs552882046 CROCC2 Nonsynonymous SNV L717F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 311703 chr2 242402802 242402802 C T rs201032011 FARP2 Nonsynonymous SNV T577M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 311704 chrX 5821195 5821195 G A NLGN4X Synonymous SNV F508F 0 0 0.007 0 0 0 0 2 0 0 1 0 3.468 311705 chr2 26688825 26688825 G A OTOF Synonymous SNV V850V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 311706 chrX 74295451 74295451 C T ABCB7 Nonsynonymous SNV A161T 0 0 0.007 0 0 0 0 2 0 0 1 0 22.7 311707 chrX 9900909 9900909 A G rs140571503 SHROOM2 Nonsynonymous SNV R31G 0 0 0.007 0 0 0 0 2 0 0 1 0 25.1 311708 chr8 30699595 30699595 C T rs554047548 TEX15 Synonymous SNV P2696P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 311709 chr10 101611379 101611379 A G rs751928128 ABCC2 Synonymous SNV T1543T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 311710 chr12 94694785 94694785 C T rs370718611 PLXNC1 Synonymous SNV A1446A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.33 311711 chr8 55539816 55539816 C A rs532166235 RP1 Nonsynonymous SNV S1125Y 0 0 0.007 0 0 0 0 2 0 0 0 0 22.3 311712 chr2 36825164 36825175 CCCGCCTCGGCC - rs745391375 FEZ2 A38_G41del 0.001 0 0 0 1 0 0 0 0 0 0 0 311713 chr2 37459308 37459308 C G rs2714473 NDUFAF7 Nonsynonymous SNV P39A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.159 311714 chr2 37458614 37458616 TAT - rs774769644 CEBPZ N32del 0.001 0 0 0 1 0 0 0 0 0 0 0 311715 chr12 124821575 124821575 G A rs369817436 NCOR2 Nonsynonymous SNV R1937W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 311716 chr10 1149580 1149580 C T rs148227536 WDR37 Synonymous SNV D255D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.565 311717 chr13 114059447 114059447 G A rs745579577 LOC101928841 Stop gain Q1020X 0.001 0 0 0 1 0 0 0 0 0 0 0 7.114 311718 chr14 20502742 20502742 A T rs758986687 OR4K13 Nonsynonymous SNV M59K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 311719 chr1 215342693 215342693 T C rs146530740 KCNK2 Synonymous SNV D205D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.414 311720 chr2 45826643 45826643 G A rs147790397 SRBD1 Nonsynonymous SNV P198L 0.002 0 0 0 2 0 0 0 0 0 0 0 9.577 311721 chr10 121431973 121431973 G C BAG3 Synonymous SNV G238G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.592 311722 chr10 122357571 122357571 C T rs11199432 LINC01561 0 0 0.01 0 0 0 0 3 0 0 1 0 1.226 311723 chr8 8560596 8560596 C A rs371221125 CLDN23 Synonymous SNV R230R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.78 311724 chr9 100128850 100128850 C T rs145284892 CCDC180 Nonsynonymous SNV R1397C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 311725 chr9 101133779 101133779 G A rs560132993 GABBR2 Synonymous SNV H579H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 311726 chr9 101518865 101518865 C T ANKS6 Synonymous SNV R721R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 311727 chr9 101544843 101544843 A G rs200355078 ANKS6 Synonymous SNV I375I 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 9.181 311728 chr9 101980868 101980868 T C rs201271253 ALG2 Nonsynonymous SNV Y200C 0 0 0.007 0 0 0 0 2 0 0 0 0 25.5 311729 chr1 226180157 226180157 G A rs534722581 SDE2 Synonymous SNV P154P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.95 311730 chr13 31232981 31232981 G C rs753075335 USPL1 Nonsynonymous SNV V594L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.989 311731 chr14 24877518 24877518 C T NYNRIN Synonymous SNV S214S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.336 311732 chr9 114089822 114089822 C A rs144998578 OR2K2 Nonsynonymous SNV D298Y 0 0 0.007 0 0 0 0 2 0 0 0 0 23.4 311733 chr9 114456228 114456228 C T rs146978774 SHOC1 Nonsynonymous SNV E1003K 0 0 0.01 0 0 0 0 3 0 0 0 0 34 311734 chr22 19137703 19137703 G C GSC2 Nonsynonymous SNV R32G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 311735 chr2 200797869 200797869 G C rs778957540 TYW5 Nonsynonymous SNV P290R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 311736 chr13 44463041 44463041 A G rs771180869 LACC1 Synonymous SNV A352A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.838 311737 chr9 117848295 117848295 C T rs146173400 TNC Nonsynonymous SNV R572H 0 0 0.007 0 0 0 0 2 0 0 0 0 14.76 311738 chr2 98994246 98994246 C T rs139544302 CNGA3 Synonymous SNV T66T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.81 311739 chr9 119065205 119065205 C T rs866910016 PAPPA Synonymous SNV I1041I 0 0 0.007 0 0 0 0 2 0 0 0 0 14.16 311740 chr9 123780117 123780117 C T C5 Nonsynonymous SNV G513D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311741 chr3 10387757 10387757 G A rs145037079 ATP2B2 Synonymous SNV N778N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 311742 chr10 31137662 31137662 G A ZNF438 Nonsynonymous SNV H558Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 311743 chr1 240072155 240072155 T C CHRM3 Synonymous SNV A468A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 311744 chr14 59006845 59006845 G A KIAA0586 Nonsynonymous SNV V1452I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.523 311745 chr14 61747257 61747257 G A TMEM30B Synonymous SNV H203H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 311746 chr13 98660377 98660377 T C rs376142906 IPO5 Nonsynonymous SNV M594T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 311747 chr1 245862255 245862255 C T rs375899973 KIF26B Nonsynonymous SNV R2032C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 311748 chr14 69792700 69792700 C T rs192820115 GALNT16 Nonsynonymous SNV T175I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 311749 chr14 70990595 70990595 C T rs143287090 ADAM20 Nonsynonymous SNV D294N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 311750 chr3 121707250 121707250 T C ILDR1 Synonymous SNV K446K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.827 311751 chr13 110822943 110822943 C T rs117738194 COL4A1 Synonymous SNV T1231T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.01 311752 chr3 122288593 122288593 C G rs201919153 DTX3L Nonsynonymous SNV L553V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 311753 chr10 63845517 63845517 C T ARID5B Nonsynonymous SNV P176L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 311754 chr10 64966735 64966735 G A rs776963001 JMJD1C Nonsynonymous SNV T1346I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 311755 chr14 77576320 77576320 A G rs151146858 CIPC Nonsynonymous SNV K101R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 311756 chr9 138664622 138664622 C T rs370155559 KCNT1 Synonymous SNV G645G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.56 311757 chr9 139235403 139235403 G T GPSM1 Nonsynonymous SNV S387I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.18 311758 chr14 79434678 79434678 G T NRXN3 Nonsynonymous SNV R671L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 311759 chr9 139290068 139290068 T A SNAPC4 Nonsynonymous SNV N111I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 311760 chr9 139571469 139571469 A G AGPAT2 Nonsynonymous SNV S146P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.87 311761 chr10 73053280 73053280 C T rs147710785 UNC5B Nonsynonymous SNV R620C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.3 311762 chr10 75551990 75551990 C T rs544954588 ZSWIM8 Nonsynonymous SNV R565C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 311763 chr10 7774318 7774318 C T rs376469564 ITIH2 Synonymous SNV V555V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.681 311764 chr10 7840953 7840953 C T rs373595647 ATP5F1C Nonsynonymous SNV A28V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 311765 chr2 237074895 237074895 C T rs201674356 GBX2 Nonsynonymous SNV A237T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 311766 chr1 38171233 38171233 C T rs35181497 CDCA8 Synonymous SNV G235G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.82 311767 chr2 238296309 238296309 C T rs35914491 COL6A3 Nonsynonymous SNV D204N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.3 311768 chr10 88469787 88469787 G A rs150868546 LDB3 Nonsynonymous SNV R341Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 311769 chr14 23871741 23871741 A G MYH6 Nonsynonymous SNV M358T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 311770 chr3 142272171 142272171 T G rs201052932 ATR Synonymous SNV A837A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.16 311771 chr10 96053264 96053264 G T PLCE1 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 311772 chr10 96117934 96117936 CTT - rs781446479 NOC3L E85del 0 0 0.003 0 0 0 0 1 0 0 0 0 311773 chr2 242130626 242130626 G C ANO7 Synonymous SNV A42A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.076 311774 chr3 150661679 150661679 C T rs547057318 CLRN1 Nonsynonymous SNV R118Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 311775 chr1 45811066 45811066 G A TESK2 Nonsynonymous SNV R305W 0 0 0 1 0 0 0.003 0 0 0 0 0 22 311776 chr9 37512704 37512704 C T rs200694576 FBXO10 Nonsynonymous SNV R904H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 311777 chr15 31776210 31776210 - GGCGGC OTUD7A A689_T690insAA 0.001 0 0 0 1 0 0 0 0 0 0 0 311778 chr9 88203292 88203292 G A rs376580319 AGTPBP1 Nonsynonymous SNV P994S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 311779 chr1 55224618 55224618 G A PARS2 Synonymous SNV L73L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.719 311780 chr14 53513524 53513524 G A rs760306971 DDHD1 Nonsynonymous SNV H861Y 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 311781 chr9 91617150 91617150 C T rs140561315 S1PR3 Synonymous SNV S345S 0 0 0.007 0 0 0 0 2 0 0 0 0 6.99 311782 chr14 59988304 59988304 T C CCDC175 Nonsynonymous SNV I696V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.875 311783 chr3 185783761 185783761 T C rs373767629 ETV5 Nonsynonymous SNV I251V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 311784 chr9 98782998 98782998 C T rs747312935 LINC00092 0 0 0.003 0 0 0 0 1 0 0 0 0 8.586 311785 chr14 60574442 60574442 G A rs762027944 PCNX4 Nonsynonymous SNV R29Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.81 311786 chrX 110435373 110435373 T C rs374626503 PAK3 Synonymous SNV Y283Y 0 0 0.007 0 0 0 0 2 0 0 1 0 0.421 311787 chr11 115088662 115088662 G A rs377460211 CADM1 Synonymous SNV T257T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.156 311788 chrX 151302985 151302985 A C MAGEA10 X370E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.115 311789 chr3 196089400 196089400 G A rs193202344 UBXN7 Synonymous SNV S331S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 311790 chr11 119045630 119045630 C T rs145061482 NLRX1 Nonsynonymous SNV R440C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 311791 chrX 153197535 153197535 G A rs782718393 NAA10 Synonymous SNV T119T 0 0 0.007 0 0 0 0 2 0 0 1 0 13.19 311792 chrX 153219689 153219689 C G HCFC1 Synonymous SNV V1387V 0 0 0.007 0 0 0 0 2 0 0 1 0 1.968 311793 chr15 45464167 45464167 G A rs752344246 SHF Stop gain R351X 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 311794 chrX 15333659 15333659 - A rs770804405 ASB11 Frameshift insertion F24Lfs*2 0 0 0.007 0 0 0 0 2 0 0 1 0 311795 chr14 74970666 74970666 G A rs144521879 LTBP2 Synonymous SNV P1515P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.5 311796 chr15 48063437 48063437 C A rs755742537 SEMA6D Nonsynonymous SNV P831T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.407 311797 chrX 37526542 37526545 CTAT - rs782563517 LANCL3 Y302Cfs*31 0 0 0.007 0 0 0 0 2 0 0 1 0 311798 chr11 128786323 128786323 G A rs192889782 KCNJ5 Synonymous SNV R319R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.229 311799 chr11 1298345 1298345 C T rs766415165 TOLLIP Nonsynonymous SNV R200H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 311800 chr11 134151937 134151937 C T rs770897644 GLB1L3 Synonymous SNV A150A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 311801 chr14 105173751 105173751 G A rs780689756 INF2 Nonsynonymous SNV V383M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.423 311802 chr15 76170355 76170355 C A UBE2Q2 Nonsynonymous SNV L208M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 311803 chr10 120867608 120867764 GGTCAGTACAGAAGAACATGGTTTTATATCACAACAATTGAAGTTCCAGATTCTTCCATTTTGAAAAAGGTATGATTGCGTGAAGGTAAAAAAAAAACCCCAAAATAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGA - DENND10 Stop gain V12* 0 0 0.003 0 0 0 0 1 0 0 0 0 311804 chr15 31521513 31521513 G T rs751240025 LOC283710 Synonymous SNV P23P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 311805 chr3 119642283 119642283 T G GSK3B Synonymous SNV T138T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.22 311806 chr15 86265553 86265553 C A AKAP13 Nonsynonymous SNV F778L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.1 311807 chr3 12200243 12200243 G T rs1004604073 TIMP4 Nonsynonymous SNV A33D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 311808 chr15 42143098 42143098 G A rs556609313 SPTBN5 Synonymous SNV S3625S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 311809 chr11 44219478 44219478 C A rs746528837 EXT2 Nonsynonymous SNV L502I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 311810 chr11 45927211 45927211 A T MAPK8IP1 Nonsynonymous SNV Q692L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 311811 chr15 93563288 93563288 C T rs201939255 CHD2 Synonymous SNV G1651G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.2 311812 chr15 50534891 50534891 C A rs371216664 HDC Nonsynonymous SNV A486S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 311813 chr3 14105764 14105764 C T TPRXL 0.001 0 0 0 1 0 0 0 0 0 0 0 8.258 311814 chr10 51040904 51040904 T G rs564618179 PARG Synonymous SNV A450A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 311815 chr10 62632009 62632009 G A rs770016280 RHOBTB1 Nonsynonymous SNV H499Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 311816 chr3 151598756 151598756 T A SUCNR1 Nonsynonymous SNV I142N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 311817 chr16 2816708 2816708 G A rs201485562 SRRM2 Nonsynonymous SNV R2060Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.16 311818 chr4 159048595 159048595 A G GASK1B Synonymous SNV N508N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.749 311819 chr2 202357642 202357642 G C rs111248291 C2CD6 Stop gain S1141X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 311820 chr4 1739351 1739351 C T rs569974352 TACC3 Synonymous SNV P621P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.01 311821 chr4 174169286 174169286 A G rs200651054 GALNT7 Synonymous SNV E94E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 311822 chr10 93220227 93220227 G A rs779535332 HECTD2 Synonymous SNV Q104Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.249 311823 chr4 17710721 17710721 C G FAM184B Nonsynonymous SNV E230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 311824 chr11 58190488 58190488 A G rs143337044 OR5B2 Nonsynonymous SNV F83L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.003 311825 chr11 58940181 58940181 C T rs765272910 DTX4 Nonsynonymous SNV P38L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 311826 chr11 59423167 59423167 C A PATL1 Nonsynonymous SNV G287V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 311827 chr11 59423168 59423168 C G PATL1 Nonsynonymous SNV G287R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 311828 chr11 60706980 60706980 C T SLC15A3 Synonymous SNV G469G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 311829 chr2 226516188 226516188 G A rs61753536 NYAP2 Synonymous SNV T623T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.225 311830 chr16 31382429 31382429 T C rs201604889 ITGAX Nonsynonymous SNV S579P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 311831 chr2 42836695 42836695 G A rs758404584 MTA3 Synonymous SNV Q40Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.255 311832 chr21 47549127 47549127 G A rs570046000 COL6A2 Nonsynonymous SNV G827S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.61 311833 chr4 57842700 57842700 T G rs746439685 NOA1 Nonsynonymous SNV K351T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 311834 chr11 64673854 64673854 C T ATG2A Nonsynonymous SNV M1037I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311835 chr11 118039419 118039419 C T rs200761835 SCN2B Nonsynonymous SNV V40I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.32 311836 chr16 3021806 3021806 C T rs146399239 PAQR4 Nonsynonymous SNV R153C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 311837 chr16 4408419 4408419 C A rs753438532 CORO7, CORO7-PAM16 Synonymous SNV R717R 0.002 0 0 0 2 0 0 0 0 0 0 0 16.96 311838 chr11 6579746 6579746 C T DNHD1 Synonymous SNV L3012L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.426 311839 chr2 241835180 241835180 T C rs574116147 MAB21L4 Nonsynonymous SNV M79V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 311840 chr16 8862694 8862694 C G ABAT Nonsynonymous SNV T227S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 311841 chr2 86433318 86433318 C T rs778165948 MRPL35 Nonsynonymous SNV R45C 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 311842 chr11 71155234 71155234 G A rs150928869 DHCR7 Synonymous SNV S42S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.285 311843 chr16 22192959 22192959 G A rs1050862098 SDR42E2 Synonymous SNV T468T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.089 311844 chr4 96762312 96762312 G A PDHA2 Synonymous SNV G337G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.558 311845 chr5 110820136 110820136 A G rs56360861 CAMK4 Nonsynonymous SNV Q268R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 22.8 311846 chr11 77921630 77921632 CCT - rs770609018 USP35 S911del 0 0 0.003 0 0 0 0 1 0 0 0 0 311847 chr11 783888 783888 G A rs776251380 LOC171391 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 311848 chr16 30545957 30545957 G C ZNF747 Nonsynonymous SNV P15R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 311849 chr22 38897157 38897157 G A DDX17 Nonsynonymous SNV P139L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 311850 chr5 115298613 115298613 C A LVRN Nonsynonymous SNV P100H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 311851 chr16 47644802 47644802 C T rs773959240 PHKB Nonsynonymous SNV R477C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 311852 chr11 88924479 88924479 C T rs1000148629 TYR Nonsynonymous SNV P310L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 311853 chr16 48239436 48239436 C T rs750505727 ABCC11 Nonsynonymous SNV E565K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 311854 chr17 706933 706933 C T rs61731770 NXN Nonsynonymous SNV V264I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19 311855 chr16 48395686 48395686 A T rs548798356 SIAH1 Synonymous SNV A249A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.007 311856 chr5 131939072 131939072 G A rs141989813 RAD50 Nonsynonymous SNV R763H 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 311857 chr2 64863681 64863681 G A rs144784494 SERTAD2 Nonsynonymous SNV H109Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.092 311858 chr16 56973238 56973238 A G HERPUD1 Nonsynonymous SNV Q173R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 311859 chr16 67265612 67265612 A G rs202207176 FHOD1 Synonymous SNV L771L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.869 311860 chr12 106460963 106460963 T C rs760225538 NUAK1 Nonsynonymous SNV T535A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 311861 chr12 106633272 106633272 G A rs529992641 CKAP4 Nonsynonymous SNV R447C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311862 chr2 85577182 85577182 G A rs141214963 RETSAT Synonymous SNV S260S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.01 311863 chr11 47178722 47178722 G A rs770421248 C11orf49 Synonymous SNV S191S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.365 311864 chr2 85893782 85893782 G A rs147417469 SFTPB Synonymous SNV D117D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.592 311865 chr12 110832945 110832945 A G ANAPC7 Synonymous SNV A157A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 311866 chr2 88926732 88926732 - CAG EIF2AK3 L21_G22insL 0.001 0 0 0 1 0 0 0 0 0 0 0 311867 chr12 112685901 112685901 C A rs185549640 HECTD4 Nonsynonymous SNV M1416I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 311868 chr2 98408947 98408947 C T TMEM131 Nonsynonymous SNV S1349N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 311869 chr12 121000864 121000864 A G rs779493764 RNF10 Synonymous SNV Q415Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 311870 chr2 11053683 11053683 C T KCNF1 Synonymous SNV Y377Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.755 311871 chr12 121678550 121678550 G C rs746645841 CAMKK2 Synonymous SNV P530P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.631 311872 chr16 81934324 81934324 C T PLCG2 Nonsynonymous SNV T434M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 311873 chr16 82101785 82101785 C T rs148579309 HSD17B2 Synonymous SNV C92C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 311874 chr12 124093274 124093274 G A rs200518654 DDX55 Nonsynonymous SNV R150Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 311875 chr4 156273799 156273799 A C rs761269973 MAP9 Synonymous SNV A590A 0.002 0 0 0 2 0 0 0 0 0 0 0 4.019 311876 chr12 124496898 124496898 C T rs758089448 ZNF664 Synonymous SNV S69S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 311877 chr2 11922452 11922452 G A rs548508177 LPIN1 Synonymous SNV L325L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.681 311878 chr12 12514157 12514157 A G rs773102903 BORCS5 Nonsynonymous SNV K7E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 311879 chr12 125397628 125397628 T C rs368316615 UBC Synonymous SNV Q230Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 311880 chr17 11593628 11593628 G A rs373653930 DNAH9 Nonsynonymous SNV G1497S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 311881 chr16 85114946 85114946 G T KIAA0513 Nonsynonymous SNV A310S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 311882 chr16 87445347 87445347 T C ZCCHC14 Nonsynonymous SNV S994G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 311883 chr4 175898410 175898410 C T rs140579543 ADAM29 Synonymous SNV D578D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.256 311884 chr16 88600518 88600518 G A ZFPM1 Nonsynonymous SNV A718T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 311885 chr5 167937649 167937649 A T rs34723836 RARS1 Synonymous SNV L470L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 5.346 311886 chr4 184243206 184243207 AG - CLDN24 L125Vfs*26 0.001 0 0 0 1 0 0 0 0 0 0 0 311887 chr16 89590525 89590525 G A rs746330825 SPG7 Nonsynonymous SNV G163D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 311888 chr17 260239 260239 C T rs202232939 C17orf97 Nonsynonymous SNV R36W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 311889 chr17 27185599 27185602 TTGT - ERAL1 Stop gain C239* 0.001 0 0 0 1 0 0 0 0 0 0 0 311890 chr11 56510756 56510756 T C OR9G4 Nonsynonymous SNV T178A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 311891 chr12 46244152 46244152 C T rs138384363 ARID2 Nonsynonymous SNV T749I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.24 311892 chr12 46254663 46254663 C A rs144553917 ARID2 Nonsynonymous SNV S1618Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 311893 chr2 173885389 173885389 G A rs61756295 RAPGEF4 Synonymous SNV T513T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.07 311894 chr12 50185752 50185752 C T rs770808668 NCKAP5L Nonsynonymous SNV R1292H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311895 chr17 3912197 3912197 G C rs200193870 ZZEF1 Nonsynonymous SNV L2929V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 311896 chr17 38173186 38173186 G A CSF3 Nonsynonymous SNV V161I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 311897 chr11 61018614 61018614 G C rs745398387 PGA5 Nonsynonymous SNV S343T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 311898 chr12 52777575 52777575 A C rs149277949 KRT84 Nonsynonymous SNV F185C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 311899 chr11 61254511 61254511 - C rs761386031 PPP1R32 Frameshift insertion R290Pfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 311900 chr17 39551858 39551858 G T KRT31 Synonymous SNV R202R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.568 311901 chr17 39658982 39658982 G A rs775287167 KRT13 Nonsynonymous SNV T327M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 311902 chr2 19552913 19552913 C A rs12329305 OSR1 Synonymous SNV L218L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.69 311903 chr12 53862579 53862579 C T PCBP2 Nonsynonymous SNV A238V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 311904 chr17 7232413 7232413 C T rs200247655 NEURL4 Synonymous SNV G73G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.04 311905 chr5 74001089 74001089 G A rs145056714 HEXB Nonsynonymous SNV V239I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 311906 chr5 74484432 74484432 G T ANKRD31 Synonymous SNV R484R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.836 311907 chr17 40317620 40317620 A C rs774709267 KCNH4 Synonymous SNV A644A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 311908 chr5 76594632 76594632 C - PDE8B A116Vfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 311909 chr17 40825474 40825474 C A PLEKHH3 Synonymous SNV V197V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 311910 chr17 40925766 40925766 G A rs761201135 VPS25 Synonymous SNV V23V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 311911 chr11 65271782 65271782 T C rs376975870 MALAT1, TALAM1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.818 311912 chr4 77172900 77172900 A C FAM47E, FAM47E-STBD1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 311913 chr12 60168481 60168481 - G rs769135974 SLC16A7 Frameshift insertion K137Qfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 311914 chr17 12032512 12032512 A G rs202076088 MAP2K4 Synonymous SNV Q316Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.303 311915 chr11 68549389 68549389 C T rs149896611 CPT1A Nonsynonymous SNV R401H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 311916 chr12 6704583 6704583 C T CHD4 Nonsynonymous SNV G673S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 311917 chr12 7067226 7067226 G A rs62621988 PTPN6 Nonsynonymous SNV V451M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 311918 chr17 19770683 19770683 T C rs756799284 ULK2 Synonymous SNV G16G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.554 311919 chr12 80190727 80190727 A G PPP1R12A Nonsynonymous SNV Y710H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 311920 chr17 21318832 21318832 A G KCNJ12, KCNJ18 Nonsynonymous SNV M60V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.156 311921 chr17 25909962 25909962 C T KSR1 Nonsynonymous SNV P271S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 311922 chr12 9353640 9353640 C T rs770828513 PZP Nonsynonymous SNV R173Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.7 311923 chr17 28386587 28386587 C T rs112900293 EFCAB5 Stop gain R869X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 311924 chr17 34866595 34866595 T A rs779910223 MYO19 Nonsynonymous SNV I383F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 21.7 311925 chr17 34842570 34842570 C T rs149756417 ZNHIT3 Synonymous SNV V9V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 311926 chr6 14118077 14118077 G A rs764350777 CD83 Nonsynonymous SNV C12Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 311927 chr11 94528314 94528314 A G AMOTL1 Nonsynonymous SNV R63G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 311928 chr13 114306007 114306007 G A ATP4B Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.288 311929 chr17 73491708 73491708 C T rs377381836 TMEM94 Synonymous SNV T986T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.97 311930 chr17 38548519 38548519 C A TOP2A Nonsynonymous SNV D1347Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 311931 chr17 38636952 38636952 C G TNS4 Nonsynonymous SNV G581R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 311932 chr13 28611382 28611382 T G rs56090538 FLT3 Nonsynonymous SNV I417L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.15 311933 chr13 28636134 28636134 C T rs200841206 FLT3 Nonsynonymous SNV A80T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 311934 chr17 74474943 74474943 C G rs145040227 RHBDF2 Nonsynonymous SNV R206P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.2 311935 chr12 110238466 110238466 C T rs147558344 TRPV4 Synonymous SNV G270G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.44 311936 chr13 39264125 39264125 C A rs777003453 FREM2 Nonsynonymous SNV Q882K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.514 311937 chr12 110897612 110897612 G A rs139056410 GPN3 Synonymous SNV F110F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 311938 chr17 78064127 78064173 CAGGCACGTGCACGAACAAGGGACGCGCGCAGGCACGTGCACGAACA - CCDC40 A1009Dfs*69 0.002 0 0 0 2 0 0 0 0 0 0 0 311939 chr17 42255184 42255184 C G ASB16-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.442 311940 chr13 51501550 51501550 A G rs748052389 RNASEH2B Synonymous SNV L24L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.231 311941 chr13 51591091 51591091 G A rs117678966 GUCY1B2 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 311942 chr17 43215345 43215345 C A rs751965924 ACBD4 Nonsynonymous SNV P226Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.186 311943 chr17 45811111 45811111 G C TBX21 Synonymous SNV A97A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 311944 chr17 46629533 46629533 T C HOXB3 Nonsynonymous SNV N102D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 311945 chr6 25861881 25861881 C T rs377515468 SLC17A3 Nonsynonymous SNV R121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 311946 chr13 96589243 96589243 G A rs771454709 UGGT2 Synonymous SNV L638L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.08 311947 chr17 49238580 49238580 T G rs768924073 NME1, NME1-NME2 Synonymous SNV P96P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.717 311948 chr14 102675215 102675215 G A rs763211317 WDR20 Synonymous SNV A175A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.978 311949 chr17 58156237 58156237 C T rs371102070 HEATR6 Synonymous SNV V13V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 311950 chr5 176524296 176524296 C T rs746030739 FGFR4 Synonymous SNV Y679Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.436 311951 chr17 65124914 65124914 G A HELZ Synonymous SNV I1081I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 311952 chr14 20711628 20711628 A G rs376165586 OR11H4 Synonymous SNV R226R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.173 311953 chr14 20897536 20897536 - GGTGCTGGAAGTGCA KLHL33 P358_C359insALPAP 0 0 0.003 0 0 0 0 1 0 0 0 0 311954 chr18 22806838 22806838 C T rs61762981 ZNF521 Synonymous SNV T128T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.27 311955 chr4 3076615 3076615 - CAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 311956 chr14 21899393 21899393 C T rs752288417 CHD8 Nonsynonymous SNV G137D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 311957 chr17 72522175 72522175 C T CD300LB Nonsynonymous SNV E28K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.489 311958 chr14 24846097 24846097 - T rs545800363 NFATC4 Frameshift insertion G874Wfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 311959 chr17 73736897 73736899 CTC - ITGB4 S859del 0.001 0 0 0 1 0 0 0 0 0 0 0 311960 chr17 73835960 73835960 C T rs781050501 UNC13D Nonsynonymous SNV A339T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 311961 chr12 49953525 49953525 C A MCRS1 Synonymous SNV V139V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 311962 chr14 45430109 45430109 G A KLHL28 Nonsynonymous SNV S8F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.879 311963 chr6 637786 637786 G A rs201586583 EXOC2 Synonymous SNV T11T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.79 311964 chr12 52567503 52567503 C T rs35725856 KRT80 Nonsynonymous SNV V238I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.84 311965 chr17 76433738 76433738 C T rs139298784 DNAH17 Synonymous SNV L4006L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.02 311966 chr14 50735985 50735985 C G rs755596970 L2HGDH Nonsynonymous SNV E268Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.3 311967 chr5 56177848 56177848 - CAA rs749737428 MAP3K1 T949_E950insT 0.002 0 0 0 2 0 0 0 0 0 0 0 311968 chr6 56481734 56481734 T C DST Synonymous SNV T2177T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.09 311969 chr12 52826909 52826909 C T rs2232390 KRT75 Nonsynonymous SNV R209Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311970 chr6 71162211 71162211 G A rs201194449 FAM135A Nonsynonymous SNV A32T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 311971 chr17 78354772 78354772 G A rs145076497 RNF213 Synonymous SNV A4594A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.71 311972 chr14 55433194 55433194 G A rs201722734 WDHD1 Nonsynonymous SNV A647V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 311973 chr14 57279992 57279992 - G OTX2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 311974 chr17 78186003 78186003 G A rs200485062 SGSH Synonymous SNV S272S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 12.25 311975 chr12 55025588 55025588 G A rs532763579 LACRT Stop gain Q97X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 311976 chr14 64547185 64547185 C T rs138545972 SYNE2 Synonymous SNV D3725D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 311977 chr17 79974904 79974904 G A rs148225721 ASPSCR1 Synonymous SNV A469A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.064 311978 chr19 372635 372635 T C rs201142244 THEG Nonsynonymous SNV N187D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.955 311979 chr19 373495 373495 G A rs373030440 THEG Synonymous SNV D156D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.927 311980 chr3 122274866 122274866 T C rs200920578 PARP9 Nonsynonymous SNV Q86R 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.003 311981 chr4 20512707 20512707 G C rs777947849 SLIT2 Nonsynonymous SNV Q339H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 311982 chr4 20599947 20599947 G T SLIT2 Synonymous SNV A1203A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.3 311983 chr18 3193918 3193918 G A rs75131308 MYOM1 Nonsynonymous SNV S110F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.97 311984 chr14 74538991 74538991 C T rs371168008 ALDH6A1 Nonsynonymous SNV R88H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 311985 chr4 26487491 26487491 G A CCKAR Synonymous SNV L132L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.887 311986 chr18 9256826 9256826 C T rs775877875 ANKRD12 Synonymous SNV N1164N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.373 311987 chr12 66641557 66641557 C G rs368882241 IRAK3 Nonsynonymous SNV P405R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 311988 chr3 128616497 128616497 C T rs377547811 ACAD9 Nonsynonymous SNV R193W 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 311989 chr19 1077971 1077971 C T rs765132004 ARHGAP45 Nonsynonymous SNV A69V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.348 311990 chr3 129269604 129269604 C T rs138707822 H1-8 Synonymous SNV Y114Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.366 311991 chr14 88658599 88658599 C A rs34207389 KCNK10 Synonymous SNV L274L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 311992 chr14 91744338 91744338 C T rs372295335 CCDC88C Synonymous SNV S1662S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.28 311993 chr14 91780051 91780051 G A rs764772256 CCDC88C Synonymous SNV D703D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.993 311994 chr18 24126940 24126940 G T KCTD1 Nonsynonymous SNV Q521K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 311995 chr19 2405436 2405436 G A rs757846099 TMPRSS9 Synonymous SNV P211P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.969 311996 chr3 135969369 135969369 G A PCCB Nonsynonymous SNV G51D 0 0 0 1 0 0 0.003 0 0 0 0 0 32 311997 chr14 95107116 95107116 G A rs374250377 SERPINA13P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 311998 chr12 9261949 9261949 C A rs372695298 A2M Nonsynonymous SNV L92F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 311999 chr18 43249288 43249288 C T rs766949156 SLC14A2 Nonsynonymous SNV A685V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 312000 chr15 23811567 23811567 G A rs373112379 MKRN3 Nonsynonymous SNV R213Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 312001 chr7 11485827 11485827 T C rs79441692 THSD7A Synonymous SNV P975P 0.002 0 0 0 2 0 0 0 0 0 0 0 5.876 312002 chr7 116166677 116166677 C T rs201261029 CAV1 Synonymous SNV D12D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.5 312003 chr13 111155583 111155583 C T rs754253271 COL4A2 Synonymous SNV S1331S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.97 312004 chr15 40093860 40093860 G A rs567029608 GPR176 Nonsynonymous SNV R296W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 312005 chr7 123516812 123516812 A G rs773851801 HYAL4 Nonsynonymous SNV N350S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 312006 chr7 127341293 127341293 G A rs775972758 SND1 Nonsynonymous SNV G169S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 312007 chr15 41384315 41384317 TTC - rs758372940 INO80 E149del 0 0 0.003 0 0 0 0 1 0 0 0 0 312008 chr13 25264781 25264781 C T rs200747942 ATP12A Nonsynonymous SNV P241S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 312009 chr15 42041599 42041599 G A rs760712646 MGA Nonsynonymous SNV G1723S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 312010 chr4 79512731 79512731 C T rs150941496 ANXA3 Nonsynonymous SNV S146F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 312011 chr19 464143 464143 G T rs551126295 ODF3L2 Nonsynonymous SNV P191T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 312012 chr7 138603329 138603329 G A rs376618613 KIAA1549 Nonsynonymous SNV S348L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.1 312013 chr7 142605942 142605942 C T rs769744626 TRPV5 Nonsynonymous SNV R643Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 312014 chr4 88995994 88995994 T G PKD2 Nonsynonymous SNV H851Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.24 312015 chr4 90856141 90856141 T C rs757906147 MMRN1 Nonsynonymous SNV I437T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.19 312016 chr7 149487455 149487497 GCGCCGACGGCAGCGACGAGCGCGGCTGCGGAGGGCCCTGCGC - rs527269736 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 312017 chr19 2078189 2078189 T C rs766390236 MOB3A Nonsynonymous SNV D124G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 312018 chr15 60648183 60648183 G A rs149342338 ANXA2 Synonymous SNV L173L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.189 312019 chr15 67793009 67793009 A C rs142327362 IQCH Synonymous SNV T562T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 312020 chr7 1519188 1519188 C T rs191952781 INTS1 Nonsynonymous SNV V1403M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 312021 chr15 69347807 69347807 G A rs139781334 NOX5 Synonymous SNV T683T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.178 312022 chr7 17915345 17915345 C T rs781649296 SNX13 Nonsynonymous SNV R170Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312023 chr7 20449350 20449350 T C rs143176145 ITGB8 Synonymous SNV N712N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.245 312024 chr7 21628179 21628179 G A rs773421259 DNAH11 Nonsynonymous SNV G633E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 312025 chr7 21628248 21628248 G C rs745389124 DNAH11 Nonsynonymous SNV R656P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.242 312026 chr15 74918261 74918261 C T rs147785553 CLK3 Synonymous SNV L405L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 312027 chr5 171520705 171520705 A G STK10 Nonsynonymous SNV I422T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 312028 chr14 23346332 23346332 T C LRP10 Nonsynonymous SNV S580P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.362 312029 chr19 8152016 8152016 C T FBN3 Synonymous SNV A2233A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.35 312030 chr6 42657372 42657372 A C UBR2 Nonsynonymous SNV Y1697S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 312031 chr15 91483040 91483040 A C UNC45A Nonsynonymous SNV E24A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 312032 chr14 45403454 45403454 C T rs150062543 KLHL28 Nonsynonymous SNV V417I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 312033 chr16 10788598 10788598 G A rs142595093 TEKT5 Nonsynonymous SNV R45C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 312034 chr14 53360075 53360077 CTT - rs763015615 FERMT2 K154del 0 0 0.003 0 0 0 0 1 0 0 0 0 312035 chr7 55269033 55269033 C T rs370198879 EGFR Synonymous SNV P766P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.32 312036 chr16 1252219 1252219 G A rs748210497 CACNA1H Nonsynonymous SNV R590Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.274 312037 chr14 58927870 58927870 G A rs547990270 KIAA0586 Nonsynonymous SNV R544Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 312038 chr19 10625592 10625592 C T rs533204482 S1PR5 Synonymous SNV P32P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 312039 chr19 11132541 11132541 C T rs113955216 SMARCA4 Synonymous SNV P919P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.69 312040 chr3 78987796 78987796 A G ROBO1 Nonsynonymous SNV Y113H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 312041 chr16 1797272 1797272 T C rs112559650 MAPK8IP3 Synonymous SNV S329S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.216 312042 chr19 33134337 33134337 C A rs747202077 ANKRD27 Nonsynonymous SNV E213D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 312043 chr19 12845361 12845361 G A TRIR Synonymous SNV P37P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.711 312044 chr16 20352446 20352446 G A rs550521976 UMOD Nonsynonymous SNV T515M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 312045 chr7 81689751 81689751 A G rs751068515 CACNA2D1 Nonsynonymous SNV V291A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 312046 chr14 72921238 72921238 A G RGS6 Nonsynonymous SNV T28A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.665 312047 chr16 22177510 22177510 C T rs1012628340 SDR42E2 Nonsynonymous SNV L203F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.331 312048 chr19 15083718 15083718 C T rs201428414 SLC1A6 Nonsynonymous SNV S2N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 312049 chr14 75181621 75181621 C T rs778267085 FCF1 Nonsynonymous SNV P28S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 312050 chr14 75367800 75367800 T C rs748546051 DLST Nonsynonymous SNV M364T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 312051 chr19 15636167 15636167 G A rs202066269 CYP4F22 Nonsynonymous SNV R7H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.168 312052 chr19 36430494 36430494 C T rs148437277 LRFN3 Nonsynonymous SNV S56L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 312053 chr14 77705976 77705976 T C rs372052500 TMEM63C Synonymous SNV Y279Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 312054 chr19 16296494 16296494 A G FAM32A Nonsynonymous SNV K45R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.76 312055 chr7 99709778 99709778 T C TAF6 Nonsynonymous SNV K262E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 312056 chr16 30768334 30768334 T C rs61731628 PHKG2 Synonymous SNV P379P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.696 312057 chr16 30773014 30773014 T C rs776050196 CCDC189 Nonsynonymous SNV E19G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.95 312058 chr16 335683 335683 G A rs201555942 PDIA2 Nonsynonymous SNV V367I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 312059 chr4 1222123 1222123 G A rs760833476 CTBP1 Synonymous SNV N68N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.042 312060 chr19 18306809 18306809 A G rs750451753 MPV17L2 Nonsynonymous SNV S189G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.379 312061 chr4 126336532 126336532 A C FAT4 Synonymous SNV T2138T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 312062 chr14 96730361 96730361 C T rs142760903 BDKRB1 Synonymous SNV N114N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.254 312063 chr4 151177305 151177305 C T rs370021286 DCLK2 Nonsynonymous SNV P736L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.205 312064 chr19 32844053 32844053 C T rs144613504 ZNF507 Nonsynonymous SNV S106L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 312065 chr19 33450918 33450918 T G CEP89 Nonsynonymous SNV T65P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 312066 chr16 633357 633357 C T rs146792004 PIGQ Nonsynonymous SNV T669I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 312067 chr15 40763701 40763701 G C CHST14 Nonsynonymous SNV A97P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 312068 chr7 111980997 111980997 T A ZNF277 Stop gain Y360X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 312069 chr19 36268605 36268605 C T rs915044601 ARHGAP33 Nonsynonymous SNV T22I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 312070 chr19 36398633 36398633 G A rs142807700 TYROBP Synonymous SNV S31S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 312071 chr15 43821297 43821297 G A MAP1A Synonymous SNV V2542V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.398 312072 chr16 75238206 75238206 G T rs200914367 CTRB2 Synonymous SNV G215G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.252 312073 chr8 144942463 144942463 G A rs377506188 EPPK1 Synonymous SNV T1653T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.091 312074 chr15 45387777 45387777 G A rs201451019 DUOX2 Nonsynonymous SNV P1366L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312075 chr16 80667116 80667116 C A rs370815076 CDYL2 Nonsynonymous SNV G212W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312076 chr15 50264793 50264793 T C ATP8B4 Nonsynonymous SNV N410S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 312077 chr19 38876925 38876925 G A rs769320062 GGN Nonsynonymous SNV P326L 0 0 0 2 0 0 0.005 0 0 0 0 0 14.86 312078 chr8 145639182 145639182 G A rs782042283 SLC39A4 Synonymous SNV S432S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.54 312079 chr19 39979250 39979250 G T rs370217104 TIMM50 Nonsynonymous SNV A196S 0 0 0 2 0 0 0.005 0 0 0 0 0 16.66 312080 chr19 40095856 40095856 T G rs77369992 LGALS13 Nonsynonymous SNV M44R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 312081 chr16 85682354 85682354 G A rs143043046 GSE1 Synonymous SNV R37R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.6 312082 chr16 86371034 86371034 T G rs893270507 LINC00917 0 0 0.003 0 0 0 0 1 0 0 0 0 1.537 312083 chr19 40412179 40412179 G A rs150293178 FCGBP Nonsynonymous SNV P1150L 0 0 0 2 0 0 0.005 0 0 0 0 0 22.6 312084 chr4 25256734 25256734 A T PI4K2B Nonsynonymous SNV Q157H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.185 312085 chr16 87677951 87677951 G A rs563590396 JPH3 Nonsynonymous SNV R157H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 312086 chr19 41209450 41209450 G A rs150264062 COQ8B Synonymous SNV P224P 0 0 0 2 0 0 0.005 0 0 0 0 0 Likely benign 6.474 312087 chr19 49377793 49377793 C T rs144400267 PPP1R15A Nonsynonymous SNV R435W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 312088 chr19 42433063 42433063 G A LOC100505585 0 0 0 2 0 0 0.005 0 0 0 0 0 8.357 312089 chr19 49930798 49930798 C T GFY Nonsynonymous SNV R371W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 312090 chr19 44096695 44096695 G C IRGQ Nonsynonymous SNV P452R 0 0 0 2 0 0 0.005 0 0 0 0 0 11.54 312091 chr19 50101194 50101194 G C PRR12 Nonsynonymous SNV R1201P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 312092 chr19 43999432 43999432 A G rs1125031 PHLDB3 Synonymous SNV S337S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.106 312093 chr19 50436358 50436358 G C MIR4751 0.001 0 0 0 1 0 0 0 0 0 0 0 2.459 312094 chr19 50455160 50455160 T C SIGLEC11 Synonymous SNV G510G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 312095 chr19 51135951 51135951 G A rs766137464 SYT3 Nonsynonymous SNV S89L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 312096 chr8 26722280 26722280 C A rs778747853 ADRA1A Synonymous SNV A69A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 312097 chr4 52938187 52938187 G A rs748412723 SPATA18 Nonsynonymous SNV R71H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.122 312098 chr15 76032392 76032392 G A rs552952095 DNM1P35 0 0 0.003 0 0 0 0 1 0 0 0 0 7.031 312099 chr19 45811693 45811693 G A CKM Nonsynonymous SNV R251C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312100 chr19 46333444 46333444 C T rs372177278 SYMPK Synonymous SNV G539G 0 0 0 2 0 0 0.005 0 0 0 0 0 10.76 312101 chr19 46914593 46914593 C T rs765306809 CCDC8 Nonsynonymous SNV R492H 0 0 0 2 0 0 0.005 0 0 0 0 0 4.65 312102 chr17 19284629 19284629 C T rs375097687 MAPK7 Synonymous SNV R230R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.13 312103 chr7 21744161 21744161 G A rs544234928 DNAH11 Nonsynonymous SNV R2128Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 312104 chr8 68116990 68116990 G A rs145636291 ARFGEF1 Synonymous SNV I1628I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 312105 chr4 73179425 73179425 G A rs150168072 ADAMTS3 Nonsynonymous SNV R572C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 312106 chr4 73280583 73280583 A C rs184919879 ADAMTS3 Nonsynonymous SNV S204A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.22 312107 chr15 90764297 90764297 G A rs767907711 SEMA4B Nonsynonymous SNV R112Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 312108 chr8 8998854 8998854 G A rs751906274 PPP1R3B Nonsynonymous SNV T103M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.1 312109 chr19 49969060 49969060 G C rs750495537 ALDH16A1 Nonsynonymous SNV R494T 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 312110 chr17 26862061 26862061 C T rs201850763 FOXN1 Nonsynonymous SNV S491L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.1 312111 chr19 50097746 50097746 G A rs73058047 PRR12 Nonsynonymous SNV A79T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.53 312112 chr17 29844725 29844725 C T RAB11FIP4 Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 312113 chr19 51171339 51171339 A C rs779706581 SHANK1 Nonsynonymous SNV F1293C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 312114 chr17 34856777 34856777 C T rs776257543 MYO19 Nonsynonymous SNV R557H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 312115 chr17 36889540 36889540 C T rs770456452 CISD3 Synonymous SNV D72D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 312116 chr19 57953363 57953363 G A rs751499526 ZNF749 Synonymous SNV A42A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 312117 chr16 2131720 2131720 G A rs756959674 TSC2 Synonymous SNV R1001R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.209 312118 chr19 53385038 53385038 G A ZNF320 Nonsynonymous SNV T114I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.22 312119 chr19 59060992 59060992 C T TRIM28 Synonymous SNV L653L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.32 312120 chr16 30680264 30680264 G A rs200647927 FBRS Nonsynonymous SNV R777Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 312121 chr19 55913035 55913035 A G rs746859641 UBE2S Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.624 312122 chr19 56029353 56029353 C A SSC5D Nonsynonymous SNV T1237K 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 312123 chr20 2777088 2777088 C T rs201677011 CPXM1 Synonymous SNV G349G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.917 312124 chr19 56424389 56424389 A C NLRP13 Nonsynonymous SNV V265G 0 0 0 2 0 0 0.005 0 0 0 0 0 22.5 312125 chr19 56599518 56599518 C T rs367690218 ZNF787 Synonymous SNV V341V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 312126 chr9 13186355 13186355 T C rs150038177 MPDZ Nonsynonymous SNV K799E 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 21.5 312127 chr9 13190235 13190235 T A rs189005767 MPDZ Nonsynonymous SNV T678S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.118 312128 chr16 49669865 49669865 G A rs748651721 ZNF423 Synonymous SNV C949C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.998 312129 chr16 50112779 50112779 G A HEATR3 Synonymous SNV E66E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.431 312130 chr16 54319126 54319126 T G rs142080873 IRX3 Nonsynonymous SNV K223Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 312131 chr17 45774106 45774106 G C TBKBP1 Nonsynonymous SNV E85D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 312132 chr17 46679505 46679505 T C rs770218021 HOXB-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 312133 chr7 96650222 96650222 C T rs371372992 DLX5 Synonymous SNV S232S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 312134 chr19 58438817 58438817 G A rs143689544 ZNF418 Synonymous SNV S159S 0 0 0 2 0 0 0.005 0 0 0 0 0 7.828 312135 chr9 136660813 136660813 T C VAV2 Nonsynonymous SNV K355E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 312136 chr16 67262963 67262963 C A TMEM208 Nonsynonymous SNV H87N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 312137 chr16 720966 720966 G A rs776447505 RHOT2 Synonymous SNV A187A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.344 312138 chr20 3673252 3673252 G A rs563135029 SIGLEC1 Nonsynonymous SNV R1316W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 312139 chr5 150930166 150930166 G A rs34635112 FAT2 Synonymous SNV H1521H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.581 312140 chr20 11898941 11898941 A G rs201825520 BTBD3 Synonymous SNV E6E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.191 312141 chr9 5462915 5462915 G A CD274 Nonsynonymous SNV G45D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 312142 chr20 35060236 35060236 C T rs141542744 DLGAP4 Nonsynonymous SNV A39V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.07 312143 chr20 34242949 34242949 G T rs199582639 RBM12 Nonsynonymous SNV P99Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23 312144 chr17 72942962 72942962 A G rs756961857 OTOP3 Nonsynonymous SNV I320V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.429 312145 chr16 89294140 89294140 T G ZNF778 Nonsynonymous SNV C454G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 312146 chr20 39832133 39832133 G A rs765640364 ZHX3 Nonsynonymous SNV A475V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 312147 chr17 73262863 73262863 C T rs373373697 MIF4GD Synonymous SNV T209T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.38 312148 chr17 73819438 73819438 T C UNK Synonymous SNV D704D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.212 312149 chr17 10318859 10318859 C T rs145863180 MYH8 Nonsynonymous SNV R193H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 312150 chr20 44574748 44574748 G A PCIF1 Synonymous SNV R474R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 312151 chr20 62366651 62366651 T A rs751698813 ZGPAT Nonsynonymous SNV C378S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 312152 chr9 90497948 90497948 C T rs190220795 SPATA31E1 Nonsynonymous SNV P48S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 312153 chr20 48503327 48503327 G A rs148315506 SLC9A8 Synonymous SNV T526T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 312154 chr8 2092650 2092650 C T rs145385079 MYOM2 Synonymous SNV N1381N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 312155 chrX 115588841 115588841 T A SLC6A14 Nonsynonymous SNV W561R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 312156 chr8 23564068 23564068 T C NKX2-6 Nonsynonymous SNV D15G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 312157 chr20 62226966 62226966 C T rs377482988 GMEB2 Nonsynonymous SNV D206N 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 312158 chr20 62324513 62324513 C T rs398123018 RTEL1 Nonsynonymous SNV R734W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 33 312159 chr17 26955394 26955394 G C rs764931942 KIAA0100 Nonsynonymous SNV P1352A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 312160 chr17 27284437 27284437 C A SEZ6 Nonsynonymous SNV S808I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 312161 chr8 2944655 2944655 T C rs370858343 CSMD1 Nonsynonymous SNV M2480V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.344 312162 chr17 8139428 8139428 T C rs78390421 CTC1 Nonsynonymous SNV D342G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 21.7 312163 chr17 8146374 8146374 T C rs116271319 CTC1 Synonymous SNV V42V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.56 312164 chr17 8170720 8170720 G A rs751363902 PFAS Nonsynonymous SNV R1069Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312165 chr17 8215574 8215574 C T rs9890841 ARHGEF15 Nonsynonymous SNV P73S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.6 312166 chrX 152938056 152938056 C T rs782045667 PNCK Synonymous SNV E138E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.37 312167 chr17 31351014 31351014 T C rs16967895 ASIC2 Nonsynonymous SNV D354G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 312168 chr17 8262704 8262704 G C rs76640850 LOC100128288 0 0 0.003 0 0 0 0 1 0 0 0 0 1.984 312169 chr17 8701287 8701287 A G rs76513959 MFSD6L Synonymous SNV T384T 0 0 0.007 0 0 0 0 2 0 0 0 0 0.119 312170 chr18 10763077 10763077 A G rs573025837 PIEZO2 Nonsynonymous SNV V964A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 312171 chr21 33765129 33765129 T C rs941513447 URB1 Nonsynonymous SNV T31A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 312172 chrX 21887672 21887672 A G rs144578691 MBTPS2 Synonymous SNV L282L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.345 312173 chr18 13885403 13885403 C T MC2R Nonsynonymous SNV V39I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 312174 chr18 14124411 14124411 G A rs201872483 ZNF519 Nonsynonymous SNV P23L 0 0 0.007 0 0 0 0 2 0 0 0 0 3.848 312175 chr18 22807525 22807525 C T rs201946312 ZNF521 Synonymous SNV P119P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 312176 chr21 41423940 41423940 C T rs527926618 DSCAM Synonymous SNV S1710S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 312177 chrX 44037687 44037687 G A rs41309737 EFHC2 Synonymous SNV H625H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.297 312178 chr18 30350510 30350510 G A rs150980438 KLHL14 Synonymous SNV H15H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.167 312179 chr21 44188349 44188349 A G rs149967454 PDE9A Nonsynonymous SNV M253V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 312180 chr22 24567866 24567866 G A rs772318388 CABIN1 Synonymous SNV P1931P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 312181 chr18 47753971 47753971 C T rs753303156 CFAP53 Nonsynonymous SNV R442H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.949 312182 chr10 101606757 101606757 G A rs748027575 ABCC2 Nonsynonymous SNV D1396N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 312183 chr6 106764018 106764018 T C rs114109860 ATG5 Synonymous SNV L22L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.485 312184 chrY 16952665 16952665 C T rs767683335 NLGN4Y Synonymous SNV P490P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.21 312185 chr6 106899668 106899668 G A rs9486348 CRYBG1 Synonymous SNV A91A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.793 312186 chr22 30640022 30640022 T C rs775480760 LIF Nonsynonymous SNV N76S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 312187 chr17 40956305 40956308 AGAG - CNTD1 R21Sfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 312188 chr17 41063381 41063381 G T rs367727229 G6PC Nonsynonymous SNV V338F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 25.6 312189 chr22 18379115 18379115 T C rs765848888 MICAL3 Nonsynonymous SNV M407V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 312190 chr18 60985441 60985441 G A rs137945099 BCL2 Synonymous SNV F153F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.82 312191 chr6 116783525 116783525 A C rs992299039 CALHM6 Nonsynonymous SNV S145R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.02 312192 chr17 42274386 42274386 T C rs376800201 ATXN7L3 Nonsynonymous SNV N122S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 312193 chr9 108234349 108234349 G T FSD1L Nonsynonymous SNV L136F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.117 312194 chr9 112899222 112899222 T A rs376115343 PALM2AKAP2 Synonymous SNV P324P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.231 312195 chr22 24460538 24460538 C T CABIN1 Nonsynonymous SNV T592I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 312196 chr6 13638141 13638141 T C RANBP9 Synonymous SNV Q524Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.827 312197 chr22 31483981 31483981 C T rs760671053 SMTN Nonsynonymous SNV R84W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 312198 chr22 42422964 42422984 GGATATGGAGCCCCACCTCTT - rs768906185 WBP2NL A240_G246del 0.001 0 0 0 1 0 0 0 0 0 0 0 312199 chr22 42609788 42609788 T C rs954170069 TCF20 Synonymous SNV E508E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 312200 chr6 146993550 146993550 A G ADGB Nonsynonymous SNV E345G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.04 312201 chr22 33254048 33254048 G A rs145285380 TIMP3 Nonsynonymous SNV V121M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 312202 chr17 54925292 54925292 G A DGKE Nonsynonymous SNV V252I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 312203 chr6 151239716 151239716 A G MTHFD1L Nonsynonymous SNV K300R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.858 312204 chr22 36702622 36702622 G A rs956644967 MYH9 Synonymous SNV A625A 0.001 0 0 0 1 0 0 0 0 0 0 0 15 312205 chr19 1231248 1231248 G A rs779114359 CBARP Nonsynonymous SNV R336W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312206 chr22 37272013 37272013 C G rs750610795 NCF4 Nonsynonymous SNV H316D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.09 312207 chr19 12694257 12694257 G A rs370327368 ZNF490 Synonymous SNV N92N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.913 312208 chr22 37693632 37693632 C T rs73887105 CYTH4 Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.33 312209 chr22 37693689 37693689 A C rs73887107 CYTH4 Nonsynonymous SNV N50H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26 312210 chr10 134219354 134219354 C A rs199941379 PWWP2B Nonsynonymous SNV H450Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.248 312211 chr19 15226103 15226103 A G rs754987632 ILVBL Nonsynonymous SNV I620T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 312212 chr19 15884956 15884956 G A rs765257757 CYP4F24P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.124 312213 chr10 13538826 13538826 T C rs201032751 BEND7 Nonsynonymous SNV T132A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 312214 chr19 16625308 16625308 C G rs774831519 C19orf44 Nonsynonymous SNV A547G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 312215 chr9 133962939 133962939 C T rs750722553 LAMC3 Nonsynonymous SNV T1436M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 312216 chr6 168464381 168464381 C T rs201393269 FRMD1 Nonsynonymous SNV R167H 0 0 0 1 0 0 0.003 0 0 0 0 0 25 312217 chr19 17405548 17405548 T C rs750996957 ABHD8 Nonsynonymous SNV I290V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 312218 chr19 17558950 17558950 A T rs767907817 TMEM221 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 312219 chr22 50279787 50279787 A G rs771263078 ZBED4 Nonsynonymous SNV Q826R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.631 312220 chr10 28023694 28023694 T A MKX Nonsynonymous SNV M177L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 312221 chr17 72469715 72469715 C T rs369184896 CD300A Synonymous SNV P27P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.207 312222 chr22 50962301 50962301 G A rs375795527 SCO2 Synonymous SNV Y180Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.339 312223 chr1 24432461 24432461 G A rs372001214 MYOM3 Nonsynonymous SNV T170M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 312224 chrX 51487010 51487010 G T GSPT2 Synonymous SNV A96A 0.002 0 0 0 2 0 0 0 1 0 0 0 10.72 312225 chr17 73887127 73887127 C T rs974626012 TRIM65 Synonymous SNV E407E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.345 312226 chr10 46965117 46965117 G A LOC102724488, SYT15 Synonymous SNV P160P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.62 312227 chr1 26648492 26648492 C T CRYBG2 Synonymous SNV R1651R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 312228 chr17 7533563 7533563 C T rs771580906 SHBG Nonsynonymous SNV R25C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 312229 chrX 107377568 107377568 G T ATG4A 0.002 0 0 0 2 0 0 0 1 0 0 0 25.2 312230 chrX 117043571 117043571 C G rs6645985 KLHL13 Synonymous SNV L347L 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 5.757 312231 chr10 50678261 50678261 C T rs114234514 ERCC6 Nonsynonymous SNV D1249N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 312232 chrX 53585732 53585732 T G HUWE1 Synonymous SNV R2682R 0.002 0 0 0 2 0 0 0 1 0 0 0 8.438 312233 chrX 57021375 57021375 C T SPIN3 Synonymous SNV K2K 0.002 0 0 0 2 0 0 0 1 0 0 0 11.93 312234 chr19 34991077 34991077 A G rs373927052 WTIP Nonsynonymous SNV Y399C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 312235 chr10 6005745 6005745 C A rs541349922 IL15RA Nonsynonymous SNV V79L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 312236 chrX 118602441 118602441 C T rs761933349 SLC25A5-AS1 0.002 0 0 0 2 0 0 0 1 0 0 0 10.59 312237 chr10 101637042 101637042 C T rs377547949 DNMBP Nonsynonymous SNV V1166M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312238 chr10 72644954 72644954 A G PCBD1 Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.966 312239 chr19 38023343 38023343 G A rs371262002 ZNF793 Nonsynonymous SNV R34Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 312240 chr17 925778 925778 C G MIR3183 0 0 0.003 0 0 0 0 1 0 0 0 0 6.614 312241 chr10 73574882 73574882 C T CDH23 Synonymous SNV D166D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 312242 chr10 105967428 105967428 G A rs201657422 CFAP43 Nonsynonymous SNV P297L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.378 312243 chr1 1226492 1226492 G A rs377263446 SCNN1D Nonsynonymous SNV R675H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.36 312244 chr1 1269003 1269003 T C TAS1R3 Nonsynonymous SNV L573P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 312245 chr10 11504611 11504611 A G USP6NL Synonymous SNV F789F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 312246 chr9 386408 386408 A G DOCK8 Synonymous SNV P884P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 312247 chr19 40877693 40877693 T A rs180854120 PLD3 Synonymous SNV T264T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.65 312248 chr10 93256095 93256095 A G rs752351069 HECTD2 Nonsynonymous SNV N442S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.256 312249 chr10 94834097 94834097 A G rs140561960 CYP26A1 Synonymous SNV K74K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.96 312250 chr10 124399849 124399849 C T rs563255039 DMBT1 Synonymous SNV Y1655Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.492 312251 chr1 9324322 9324322 G A rs149851560 H6PD Synonymous SNV S601S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.538 312252 chr6 84233197 84233197 C A rs992724872 PRSS35 Nonsynonymous SNV P13T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.009 312253 chr1 1390876 1390876 G A rs761654916 ATAD3C Nonsynonymous SNV V139M 0 0 0 1 0 0 0.003 0 0 0 0 0 8.857 312254 chr1 1535116 1535116 G C FNDC10 Nonsynonymous SNV R94G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 312255 chr6 99936132 99936132 C A rs147800108 USP45 Stop gain E220X 0 0 0.003 1 0 0 0.003 1 0 0 0 0 36 312256 chr1 15987281 15987281 C T rs376809241 RSC1A1 Synonymous SNV S306S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.967 312257 chr1 8928072 8928072 G A ENO1 Synonymous SNV I2I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.9 312258 chr18 9887340 9887342 AGA - rs767785047 TXNDC2 E290del 0 0 0.003 0 0 0 0 1 0 0 0 0 312259 chr11 102709374 102709374 T - MMP3 G380Vfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 312260 chr19 48967938 48967938 C T rs374716744 KCNJ14 Synonymous SNV D405D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.924 312261 chr1 20005789 20005789 C T rs6322 HTR6 Synonymous SNV A417A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.033 312262 chr1 12632770 12632770 G A rs774522092 DHRS3 Synonymous SNV L185L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.884 312263 chr1 110738295 110738295 C T SLC6A17 Nonsynonymous SNV S527L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312264 chr1 16475050 16475050 C T rs143736427 EPHA2 Nonsynonymous SNV A162T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.4 312265 chr19 49869115 49869115 G A rs369756997 DKKL1 Synonymous SNV A55A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.35 312266 chr11 1102201 1102201 C T rs202009279 MUC2 Nonsynonymous SNV P2613S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.582 312267 chr10 3155623 3155623 C T rs145014356 PFKP Synonymous SNV A212A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 312268 chr19 14938957 14938957 A C OR7A5 Nonsynonymous SNV S33A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 312269 chr19 51362865 51362865 G A rs534688911 KLK3 Nonsynonymous SNV G237D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.386 312270 chr1 20827618 20827618 G C rs41265063 MUL1 Synonymous SNV V208V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.765 312271 chr1 22216514 22216514 G A rs376282000 HSPG2 Synonymous SNV V178V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.047 312272 chr1 22927299 22927299 G A rs761988321 EPHA8 Nonsynonymous SNV R845Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 312273 chr1 31447602 31447602 C G PUM1 Nonsynonymous SNV V468L 0 0.003 0 0 0 1 0 0 0 0 0 0 31 312274 chr10 100185361 100185361 G A rs987811732 HPS1 Synonymous SNV L304L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.256 312275 chr10 102988558 102988558 C T rs574381608 LBX1 Synonymous SNV E5E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 312276 chr1 40148311 40148311 A G HPCAL4 Nonsynonymous SNV M86T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 312277 chr10 104491917 104491917 G A rs149029896 SFXN2 Synonymous SNV A221A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 312278 chr10 61946547 61946547 C A rs758299609 ANK3 Nonsynonymous SNV A654S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312279 chr10 105840422 105840422 T C rs17116471 COL17A1 Nonsynonymous SNV T4A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.5 312280 chr1 42041324 42041324 T C rs756435859 HIVEP3 Nonsynonymous SNV K1700E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 312281 chr1 44450681 44450681 G A rs145863808 B4GALT2 Nonsynonymous SNV D232N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 312282 chr1 44606336 44606336 G A KLF18 Nonsynonymous SNV T323M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.305 312283 chr19 55870632 55870632 G A FAM71E2 Nonsynonymous SNV P535L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 312284 chr10 75408418 75408418 C T rs766458470 SYNPO2L Nonsynonymous SNV S107N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 312285 chr1 47138684 47138684 A G TEX38 Synonymous SNV T59T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.621 312286 chr19 34843568 34843568 C T rs764495531 KIAA0355 Nonsynonymous SNV T974M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 312287 chr10 123724863 123724863 G A rs149089631 NSMCE4A Nonsynonymous SNV P231S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 312288 chr10 123842809 123842809 T A TACC2 Nonsynonymous SNV V265D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.091 312289 chr19 56538932 56538932 G A rs369303565 NLRP5 Nonsynonymous SNV G445R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.463 312290 chr19 56539070 56539070 G A rs368451354 NLRP5 Nonsynonymous SNV V491I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 312291 chr10 123997041 123997041 C T TACC2 Synonymous SNV I801I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 312292 chr10 124345681 124345681 G A rs774798136 DMBT1 Nonsynonymous SNV S512N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.845 312293 chr10 124895758 124895758 C A rs558356019 HMX3 Synonymous SNV A64A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 312294 chr19 362418 362418 C G rs377665543 THEG Nonsynonymous SNV A284P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 312295 chr1 55050521 55050521 C T rs751281591 ACOT11 Nonsynonymous SNV T76M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 312296 chr11 17613067 17613067 C T OTOG Nonsynonymous SNV R992W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 312297 chr10 127686013 127686013 T C rs12411612 FANK1 Synonymous SNV N160N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.644 312298 chr10 129537011 129537011 G A FOXI2 Nonsynonymous SNV G247S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 312299 chr10 129906928 129906928 G A rs61729196 MKI67 Nonsynonymous SNV A699V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 312300 chr10 134038812 134038812 G A rs12411723 STK32C Synonymous SNV N280N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.696 312301 chr10 134155774 134155774 G T rs116720164 LRRC27 Synonymous SNV L6L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 312302 chr1 54480027 54480029 GCC - rs141441714 LDLRAD1 G28del 0 0 0 1 0 0 0.003 0 0 0 0 0 312303 chr1 70820034 70820036 CTT - rs770770798 ANKRD13C E19del 0 0.003 0 0 0 1 0 0 0 0 0 0 312304 chr11 27078804 27078804 - A rs758809069 BBOX1 Frameshift insertion R94Kfs*35 0.001 0 0.003 0 1 0 0 1 0 0 0 0 312305 chr9 140348251 140348251 C T NSMF Nonsynonymous SNV R260Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 312306 chr1 76397630 76397630 T C rs772732746 ASB17 Nonsynonymous SNV K116R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 312307 chr10 21104613 21104613 T C rs71535732 NEBL Nonsynonymous SNV T728A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.997 312308 chr10 21806046 21806046 C A SKIDA1 Nonsynonymous SNV A236S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.079 312309 chr9 130854324 130854324 C G rs368885889 SLC25A25 Nonsynonymous SNV P59A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 312310 chr1 201178576 201178576 T A rs766947429 IGFN1 Nonsynonymous SNV S1519T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 312311 chr11 399133 399133 G A PKP3 Nonsynonymous SNV G404R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 312312 chr19 8577541 8577541 C T rs199650480 ZNF414 Nonsynonymous SNV R124H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 312313 chr11 428490 428490 G A rs780774138 ANO9 Synonymous SNV I246I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.464 312314 chr10 3207702 3207703 AC - rs762013999 PITRM1 Y114Sfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 312315 chr10 43609963 43609963 G A rs777122776 RET Nonsynonymous SNV A385T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.88 312316 chr10 45799728 45799728 C G rs141437124 OR13A1 Nonsynonymous SNV C48S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 312317 chr10 50530620 50530620 C T rs79335650 C10orf71 Synonymous SNV D10D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 312318 chr19 9083489 9083489 A C rs201717402 MUC16 Nonsynonymous SNV S2776A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.189 312319 chr10 50690778 50690778 G A rs114832108 ERCC6 Synonymous SNV S708S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.02 312320 chr1 110655586 110655586 G A rs369258979 UBL4B Nonsynonymous SNV V144M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.883 312321 chr19 47548621 47548621 C G rs150508616 NPAS1 Synonymous SNV T495T 0 0 0.007 0 0 0 0 2 0 0 0 0 6.497 312322 chr9 139571063 139571063 C T rs751036761 AGPAT2 Nonsynonymous SNV A188T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 312323 chr1 10479522 10479522 A G rs185532565 PGD Nonsynonymous SNV M398V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 312324 chr10 55698686 55698686 C T PCDH15 Nonsynonymous SNV V1017I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 312325 chr19 48305074 48305074 C T rs769056054 TPRX1 Synonymous SNV V398V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.269 312326 chr1 108679323 108679323 A G rs781617889 SLC25A24 Synonymous SNV Y462Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.836 312327 chr11 118455293 118455293 C T rs146939812 ARCN1 Nonsynonymous SNV S163F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 312328 chr10 64573470 64573470 - GGCGGC rs753747037 EGR2 A309_Y310insAA 0.001 0 0 0 1 0 0 0 0 0 0 0 312329 chr1 110931894 110931894 C T rs774774280 SLC16A4 Nonsynonymous SNV G18R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 312330 chr10 68857397 68857397 T G rs75363119 LRRTM3 Nonsynonymous SNV I530R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 312331 chr10 70652345 70652345 G A rs185349094 STOX1 Nonsynonymous SNV G155E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 312332 chr10 70670907 70670907 C T rs200894143 DDX50 Nonsynonymous SNV R182W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 312333 chr1 113265776 113265776 C T TAFA3 Nonsynonymous SNV S85F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312334 chr9 21010729 21010729 T C rs775635484 HACD4 Nonsynonymous SNV H213R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.895 312335 chr10 73057842 73057842 G A rs143832231 UNC5B Nonsynonymous SNV M878I 0.002 0 0 0 2 0 0 0 1 0 0 0 18.47 312336 chr10 73498386 73498386 T C rs12218564 CDH23 Synonymous SNV D1447D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.07 312337 chr10 73862633 73862633 T A ASCC1 Synonymous SNV S310S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.803 312338 chr10 75034408 75034408 T G rs193163685 DNAJC9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.11 312339 chr10 75519457 75519457 C G SEC24C Nonsynonymous SNV P129R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 312340 chr1 151503054 151503054 C G CGN Synonymous SNV R801R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 312341 chr10 75557824 75557824 T C ZSWIM8 Synonymous SNV I1311I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 312342 chr19 51848615 51848615 G A rs533794107 ETFB Synonymous SNV I297I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.89 312343 chr1 228596785 228596785 C A TRIM17 Nonsynonymous SNV G324V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.554 312344 chr1 229661757 229661757 T C rs563275826 ABCB10 Nonsynonymous SNV N611S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 312345 chr1 230979496 230979496 G A rs370293584 C1orf198 Synonymous SNV D47D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.331 312346 chr1 146737680 146737680 G A rs782537728 CHD1L Nonsynonymous SNV V73M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 312347 chr1 153279597 153279597 G A rs74473220 PGLYRP3 Nonsynonymous SNV R68W 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.1 312348 chr1 153309699 153309699 C T rs35347202 PGLYRP4 Nonsynonymous SNV D301N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.738 312349 chr1 150970624 150970624 G C MINDY1 Synonymous SNV S227S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 312350 chr19 53645467 53645467 T A rs746419792 ZNF347 Nonsynonymous SNV Y206F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.365 312351 chr10 96484233 96484233 C T rs76498052 CYP2C18 Synonymous SNV T305T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.558 312352 chr10 97023764 97023764 C T rs764741236 PDLIM1 Synonymous SNV S130S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 312353 chr1 156106161 156106161 G A rs774817302 LMNA Synonymous SNV G326G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.719 312354 chr19 54377206 54377206 C T rs200027989 MYADM Synonymous SNV T141T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 312355 chr10 99148021 99148021 G C RRP12 Synonymous SNV T235T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.988 312356 chr10 99227333 99227333 T G rs29001311 MMS19 Nonsynonymous SNV Q311P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.7 312357 chr11 14907343 14907343 T C CYP2R1 Nonsynonymous SNV M116V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 312358 chr1 155218230 155218230 C T rs140120577 FAM189B Synonymous SNV E419E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.21 312359 chr1 156268884 156268884 C T rs143313906 VHLL Nonsynonymous SNV E33K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.028 312360 chr1 156561912 156561912 G C rs149164071 NAXE Nonsynonymous SNV V68L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.4 312361 chr11 1017141 1017141 C T MUC6 Nonsynonymous SNV G1887E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 312362 chr19 5587307 5587307 G A SAFB2 Nonsynonymous SNV P937S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 312363 chr8 125464010 125464010 A G rs372554468 TRMT12 Nonsynonymous SNV N281S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 312364 chr1 158686973 158686973 G A OR6K3 Synonymous SNV N311N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.583 312365 chr1 160171062 160171062 G A rs775149115 CASQ1 Nonsynonymous SNV D363N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 312366 chr11 1078458 1078458 C T rs540618694 MUC2 Synonymous SNV R222R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 312367 chr11 110124735 110124735 T C RDX Nonsynonymous SNV T163A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 312368 chr11 113705040 113705040 A T USP28 Synonymous SNV P59P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.051 312369 chr19 7812230 7812230 A G rs765954889 CD209 Nonsynonymous SNV L23P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.391 312370 chr1 176992702 176992702 G A rs201453556 ASTN1 Nonsynonymous SNV R426C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 312371 chr11 60892526 60892526 G A rs376131097 CD5 Synonymous SNV T377T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.238 312372 chr11 114393637 114393637 G A rs114194903 NXPE1 Nonsynonymous SNV R216C 0.001 0 0 0 1 0 0 0 0 0 0 0 26 312373 chr1 182441599 182441599 G A rs990874029 RGSL1 Nonsynonymous SNV V124M 0 0.003 0 0 0 1 0 0 0 0 0 0 5.911 312374 chr11 46455049 46455049 G A AMBRA1 Nonsynonymous SNV A924V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 312375 chr10 12077076 12077076 T G rs150841556 UPF2 Nonsynonymous SNV E116A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 312376 chr19 8999488 8999488 C T rs200071553 MUC16 Nonsynonymous SNV D13563N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 312377 chr19 8999503 8999503 T G rs765214169 MUC16 Nonsynonymous SNV K13558Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.24 312378 chr19 8999504 8999504 G A rs762789675 MUC16 Synonymous SNV P13557P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.997 312379 chr19 8999507 8999507 A G rs752930664 MUC16 Synonymous SNV D13556D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.148 312380 chr11 121415977 121415977 C T rs140945867 SORL1 Synonymous SNV Y630Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.79 312381 chr11 122653852 122653852 C T rs756967207 UBASH3B Synonymous SNV A196A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 312382 chr11 12316327 12316327 C A rs181388771 MICALCL Nonsynonymous SNV T450N 0.002 0 0 0 2 0 0 0 1 0 0 0 21.1 312383 chr10 124336025 124336025 G C rs772024910 DMBT1 Nonsynonymous SNV D132H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 312384 chr1 1896426 1896426 C T rs774528600 CFAP74 Synonymous SNV V492V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.003 312385 chr10 125528210 125528210 C A CPXM2 Synonymous SNV G377G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 312386 chr2 42543187 42543187 A G rs374261901 EML4 Nonsynonymous SNV I627V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.727 312387 chr1 200635353 200635353 G A DDX59 Synonymous SNV P172P 0 0 0.007 0 0 0 0 2 0 0 0 0 10.76 312388 chr11 64893053 64893053 C A MRPL49 Nonsynonymous SNV T108N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 312389 chr2 48807987 48807987 G A STON1, STON1-GTF2A1L Nonsynonymous SNV S72N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 312390 chr11 6500456 6500456 G C rs143197439 ARFIP2 Nonsynonymous SNV P39A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.493 312391 chr10 134942325 134942325 T C rs947108910 ADGRA1 Synonymous SNV L234L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 312392 chr1 206225377 206225377 G A rs76460063 AVPR1B Nonsynonymous SNV E313K 0 0.005 0 0 0 2 0 0 0 0 0 0 23.8 312393 chr1 207195395 207195395 G C C1orf116 Nonsynonymous SNV P326A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.56 312394 chr1 207758117 207758117 C A rs541225690 CR1 Nonsynonymous SNV T1359N 0 0.003 0 0 0 1 0 0 0 0 0 0 12.79 312395 chr1 203149675 203149675 C T rs200476432 CHI3L1 Nonsynonymous SNV G273S 0 0 0.007 0 0 0 0 2 0 0 0 0 15.56 312396 chr11 129784861 129784861 G A PRDM10 Nonsynonymous SNV S774F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 312397 chr1 204948108 204948108 G A rs759099955 NFASC Nonsynonymous SNV R641Q 0 0 0.007 0 0 0 0 2 0 0 0 0 34 312398 chr11 17574704 17574704 C T rs577782313 OTOG Nonsynonymous SNV P123S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.919 312399 chr11 17809896 17809896 G A rs760279022 SERGEF Synonymous SNV N371N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.982 312400 chr1 20975777 20975777 C T rs12070174 PINK1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 9.029 312401 chr1 20975893 20975893 G A rs566416409 PINK1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 5.525 312402 chr11 18373485 18373485 A G GTF2H1 Nonsynonymous SNV T371A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 312403 chr1 20987855 20987855 T G rs61739382 DDOST Synonymous SNV R14R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.255 312404 chr1 225463680 225463680 A G rs558828014 DNAH14 Nonsynonymous SNV N2692S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.22 312405 chr10 32742323 32742323 G A CCDC7 Nonsynonymous SNV E111K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 312406 chr1 1248907 1248907 G A rs575917311 INTS11 Synonymous SNV A243A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 312407 chr11 20636247 20636247 T A SLC6A5 Nonsynonymous SNV H102Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 312408 chr1 215914855 215914855 A G USH2A Nonsynonymous SNV M3858T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 312409 chr1 12711205 12711205 A T rs144096970 AADACL4 Nonsynonymous SNV S78C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 312410 chr11 2168663 2168663 A C IGF2-AS 0.001 0 0 0 1 0 0 0 0 0 0 0 2.471 312411 chr1 222713608 222713608 G A rs369352389 HHIPL2 Synonymous SNV P398P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.537 312412 chr11 76919522 76919522 C T rs41298753 MYO7A Synonymous SNV H1968H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.87 312413 chr1 223438003 223438003 C T rs149557739 SUSD4 Synonymous SNV S231S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 312414 chr11 33054503 33054503 T G rs185768707 DEPDC7 Nonsynonymous SNV N444K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.04 312415 chr11 82880347 82880347 G T rs771713621 PCF11 Synonymous SNV G1121G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.223 312416 chr1 238053875 238053875 G A ZP4 Nonsynonymous SNV H21Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.187 312417 chr1 240656303 240656303 A T rs762584075 GREM2 Nonsynonymous SNV M158K 0 0.003 0 0 0 1 0 0 0 0 0 0 25 312418 chr10 55582184 55582192 GAGGAGCAA - rs557936064 PCDH15 L1725_P1727del 0.001 0 0 0 1 0 0 0 0 0 0 0 312419 chr1 246078901 246078901 C T SMYD3 Synonymous SNV E248E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 312420 chr11 45249345 45249345 C T rs963009905 PRDM11 Synonymous SNV L1057L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 312421 chr10 6155524 6155524 A T RBM17 Nonsynonymous SNV T304S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 312422 chr1 228528298 228528298 T C rs200917956 OBSCN Nonsynonymous SNV V5836A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 312423 chr11 47202120 47202120 G A rs2291445 PACSIN3 Synonymous SNV R111R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.675 312424 chr1 247875623 247875623 G A rs61730472 OR6F1 Synonymous SNV A145A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.409 312425 chr1 247876020 247876020 A G rs60303431 OR6F1 Nonsynonymous SNV L13P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 312426 chr11 47833756 47833756 T C rs537347350 NUP160 Nonsynonymous SNV M701V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 312427 chr1 231321837 231321837 C T rs866233091 LOC149373 Nonsynonymous SNV R45H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.577 312428 chr1 231509813 231509813 C T rs201523464 EGLN1 Synonymous SNV T308T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.8 312429 chr1 233344286 233344286 T C PCNX2 Synonymous SNV Q947Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.103 312430 chr11 48346952 48346952 C T OR4C3 Nonsynonymous SNV P127S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 312431 chr10 72100311 72100311 C T rs376779434 LRRC20 Nonsynonymous SNV R8Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 312432 chr1 157740452 157740452 C T rs760983637 FCRL2 Synonymous SNV S19S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 312433 chr1 248487428 248487428 G A rs899067573 OR2M7 Nonsynonymous SNV S148F 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 312434 chr10 73464812 73464812 G A rs111033458 CDH23 Nonsynonymous SNV E960K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.9 312435 chr11 60152607 60152607 T G MS4A7 Nonsynonymous SNV I65S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 312436 chr10 75139791 75139791 T C rs765566566 ANXA7 Nonsynonymous SNV R323G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 312437 chr1 24119647 24119647 C T rs765340005 LYPLA2 Synonymous SNV S39S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 312438 chr11 490484 490484 A G rs117857885 PTDSS2 Nonsynonymous SNV S247G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.818 312439 chr1 16064456 16064456 C T rs200358223 SLC25A34 Synonymous SNV A137A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 312440 chr11 5067845 5067845 C T rs543330534 OR52J3 Synonymous SNV S30S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 312441 chr1 24447714 24447714 G A IL22RA1 Nonsynonymous SNV P436S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 312442 chr11 5322776 5322776 G A rs78511352 OR51B4 Nonsynonymous SNV T134I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 312443 chr1 245772780 245772780 G A rs531119042 KIF26B Nonsynonymous SNV G622S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 312444 chr1 16255415 16255415 A C SPEN Nonsynonymous SNV T894P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 312445 chr12 110182007 110182007 C G rs146405681 FAM222A Nonsynonymous SNV P19R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 312446 chr12 111350901 111350901 T G rs143139258 MYL2 Nonsynonymous SNV E134A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 312447 chr2 15760382 15760382 C T rs541970738 DDX1 Synonymous SNV S419S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.65 312448 chr1 16737341 16737341 G A rs910012716 SPATA21 Stop gain Q3X 0 0 0.003 0 0 0 0 1 0 0 0 0 4.734 312449 chr10 91143941 91143941 A G rs150869095 IFIT1B Nonsynonymous SNV M291V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.676 312450 chr2 171686107 171686107 C T rs373042715 GAD1 Nonsynonymous SNV R90C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 312451 chr2 175213795 175213795 T C CIR1 Synonymous SNV S261S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 312452 chr12 113515527 113515527 G C DTX1 Nonsynonymous SNV K186N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 312453 chr12 115114148 115114148 C T rs140580685 TBX3 Nonsynonymous SNV A337T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 312454 chr1 248286037 248286037 A T rs544777091 OR2M1P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 312455 chr1 248286039 248286039 C T rs73141235 OR2M1P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.078 312456 chr2 24261545 24261545 A C rs147496509 WDCP Nonsynonymous SNV S274A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 312457 chr10 95987180 95987180 G A rs61886330 PLCE1 Nonsynonymous SNV A335T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 312458 chr2 26507807 26507807 C T rs146538551 HADHB Synonymous SNV Y387Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.68 312459 chr1 25890156 25890156 C T rs554028072 LDLRAP1 Synonymous SNV V207V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.13 312460 chr1 26149596 26149596 A T MTFR1L Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 312461 chr11 6500053 6500053 G A ARFIP2 Nonsynonymous SNV T66I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 312462 chr2 28828739 28828739 C G rs150308104 PLB1 Nonsynonymous SNV S983C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 312463 chr2 28828740 28828740 C G rs769534781 PLB1 Synonymous SNV S983S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 312464 chr10 99661300 99661300 T G rs764123472 CRTAC1 Nonsynonymous SNV N365H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 312465 chr12 124256194 124256194 C T rs755491726 DNAH10 Synonymous SNV N115N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.413 312466 chr11 65561714 65561714 A T OVOL1 Nonsynonymous SNV M105L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 312467 chr1 2980762 2980762 - GGGAA rs770536846 PRDM16-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 312468 chr11 56409352 56409352 C T rs145283501 OR5AP2 Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.758 312469 chr12 132547096 132547096 - CAGCAGCAG EP400 Q2748_T2749insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 312470 chr1 1903466 1903466 G A rs765228463 CFAP74 Nonsynonymous SNV R281C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.666 312471 chr12 133384889 133384889 C T GOLGA3 Nonsynonymous SNV A256T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.66 312472 chr2 61331002 61331002 G C rs934089527 KIAA1841 Nonsynonymous SNV R314S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 312473 chr1 201044697 201044697 A G CACNA1S Nonsynonymous SNV M625T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 312474 chr12 18876391 18876391 A G rs145549980 PLCZ1 Nonsynonymous SNV I74T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.523 312475 chr2 64796774 64796774 G A AFTPH Synonymous SNV K744K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 312476 chr11 10527417 10527417 G A rs767689124 AMPD3 Nonsynonymous SNV A605T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.965 312477 chr2 74684955 74684955 G C rs763814810 INO80B Synonymous SNV G345G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.151 312478 chr11 60620169 60620169 G T PTGDR2 Nonsynonymous SNV R343S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 312479 chr12 32135494 32135494 C G rs776365543 RESF1 Synonymous SNV T535T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.296 312480 chr12 40645152 40645152 G T rs201546601 LRRK2 Nonsynonymous SNV W359C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 312481 chr11 61313680 61313680 G A rs962295988 SYT7 Nonsynonymous SNV A88V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 312482 chr1 207109071 207109071 T C rs35112874 PIGR Nonsynonymous SNV S380G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.12 312483 chr12 42840003 42840003 G A PPHLN1 Nonsynonymous SNV E326K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 312484 chr12 46758903 46758903 C G SLC38A2 Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.08 312485 chr11 621851 621851 G A rs568991282 CDHR5 Synonymous SNV P122P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.458 312486 chr11 6221376 6221376 G A rs149476132 OR52W1 Nonsynonymous SNV R308Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.529 312487 chr11 62291756 62291756 A G rs141698114 AHNAK Nonsynonymous SNV I3378T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23 312488 chr11 62380789 62380789 G T ROM1 Nonsynonymous SNV Q12H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 312489 chr11 62414888 62414888 A G rs201899629 INTS5 Synonymous SNV H888H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 312490 chr11 62459866 62459866 G A rs185341934 BSCL2 Nonsynonymous SNV A282V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 33 312491 chr11 85438271 85438271 T C rs144944467 SYTL2 Synonymous SNV S710S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.932 312492 chr11 86519037 86519037 T A PRSS23 Nonsynonymous SNV S118T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 312493 chr11 8662501 8662501 G A rs199996769 TRIM66 Nonsynonymous SNV S329L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 312494 chr11 8732449 8732449 A G DENND2B Synonymous SNV S345S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.32 312495 chr11 117869643 117869643 C A IL10RA Nonsynonymous SNV P342T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.452 312496 chr11 64068395 64068395 G A CATSPERZ Synonymous SNV L96L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.93 312497 chr11 64109337 64109337 C T MIR7155 0.001 0 0 0 1 0 0 0 0 0 0 0 4.26 312498 chr11 118516457 118516457 A G PHLDB1 Nonsynonymous SNV S1094G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 312499 chr2 113591081 113591081 G A rs16062 IL1B Synonymous SNV Y57Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.056 312500 chr11 1020244 1020244 C T rs764333673 MUC6 Synonymous SNV T1218T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 312501 chr11 64940017 64940017 G T rs267603114 SPDYC Nonsynonymous SNV D153Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 312502 chr11 121986611 121986611 A C rs200941988 BLID Nonsynonymous SNV I7R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 312503 chr11 65161525 65161525 G A rs61740654 FRMD8 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 312504 chr1 225755033 225755033 G T ENAH Nonsynonymous SNV T30N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 312505 chr1 227079484 227079484 C T rs769386876 PSEN2 Synonymous SNV P337P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 312506 chr2 136111172 136111172 T A rs370381234 ZRANB3 Synonymous SNV A69A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.6 312507 chr11 6648573 6648573 T C rs11040936 DCHS1 Synonymous SNV A1899A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.569 312508 chr2 141641491 141641491 T C LRP1B Nonsynonymous SNV N1355S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 312509 chr11 67057599 67057599 C T rs1574103 ANKRD13D Synonymous SNV A47A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 312510 chr11 67120530 67120530 C G rs28364240 POLD4 Nonsynonymous SNV R39P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.12 312511 chr12 109530470 109530470 G A rs61745717 ALKBH2 Nonsynonymous SNV P41L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 312512 chr11 67209515 67209515 C T rs111451405 CORO1B Synonymous SNV T82T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.838 312513 chr1 85499914 85499914 G C rs373347360 MCOLN3 Synonymous SNV V83V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.366 312514 chr12 53825178 53825178 G A rs144262887 AMHR2 Nonsynonymous SNV R453Q 0.002 0.003 0 0 2 1 0 0 0 0 0 0 13.2 312515 chr12 53899578 53899578 G A rs769254353 TARBP2 Nonsynonymous SNV R275H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 312516 chr2 159433808 159433808 G A rs200264792 PKP4 Nonsynonymous SNV R53Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 312517 chr12 54757324 54757324 A G GPR84 Synonymous SNV N104N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.304 312518 chr2 160604859 160604859 G A rs771933297 MARCHF7 Nonsynonymous SNV R297Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 312519 chr11 69486546 69486546 T C rs748393975 LTO1 Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 312520 chr2 166769097 166769097 T A TTC21B Nonsynonymous SNV N750I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 312521 chr1 916196 916196 G A PERM1 Nonsynonymous SNV R72W 0 0 0.007 0 0 0 0 2 0 0 0 0 3.934 312522 chr11 703021 703021 C T rs377598603 TMEM80 Synonymous SNV L174L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 312523 chr11 7060977 7060977 A T rs76274604 NLRP14 Stop gain K108X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 33 312524 chr12 56364912 56364912 G A CDK2 Nonsynonymous SNV V165M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 312525 chr2 167288943 167288943 A T rs139589165 SCN7A Nonsynonymous SNV L826H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 312526 chrX 114425090 114425090 G A rs782574795 RBMXL3 Synonymous SNV S362S 0 0 0 2 0 0 0.005 0 0 0 0 1 5.029 312527 chr11 71726785 71726785 A G rs17161802 NUMA1 Synonymous SNV A588A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.98 312528 chr11 118404263 118404263 A G TMEM25 Nonsynonymous SNV K171E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.94 312529 chr11 134131677 134131677 G A rs751260935 ACAD8 Nonsynonymous SNV A329T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 312530 chr12 57113346 57113346 G A rs199720717 NACA Synonymous SNV A656A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.38 312531 chr11 73796831 73796831 G A rs139665472 C2CD3 Nonsynonymous SNV R1248C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312532 chr11 74421933 74421933 G - CHRDL2 S67Pfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 312533 chr2 173882207 173882207 C G RAPGEF4 Synonymous SNV R441R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.33 312534 chr20 11790894 11790894 C - rs557062594 LINC00687 0 0 0.003 0 0 0 0 1 0 0 0 0 312535 chr11 17615225 17615225 G A OTOG Synonymous SNV V1082V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.56 312536 chr2 179214032 179214032 C T rs766832239 OSBPL6 Nonsynonymous SNV P326S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 312537 chr20 13763686 13763686 A G rs775864914 ESF1 Nonsynonymous SNV I34T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 312538 chr2 179486278 179486278 G A rs72677223 TTN Synonymous SNV N6026N 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.19 312539 chr12 123058879 123058879 A G KNTC1 Synonymous SNV A778A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 312540 chrX 152722631 152722631 A C HAUS7 Nonsynonymous SNV I147S 0.003 0 0 2 4 0 0.005 0 1 0 0 1 16.1 312541 chr3 33099620 33099620 C T GLB1 Nonsynonymous SNV A232T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.066 312542 chrX 153691782 153691782 G A rs143738443 PLXNA3 Nonsynonymous SNV V456M 0.003 0 0 2 4 0 0.005 0 1 0 0 1 26.3 312543 chr11 2016577 2016577 C T rs578086985 HOTS Nonsynonymous SNV R51C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.966 312544 chrX 18665415 18665415 C T RS1 Synonymous SNV G74G 0 0 0 2 0 0 0.005 0 0 0 0 1 13.78 312545 chr12 6806864 6806864 T A rs762749279 PIANP Nonsynonymous SNV T38S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.287 312546 chr12 13136654 13136654 C T rs763789873 GPRC5D-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.909 312547 chr12 7301702 7301702 C A CLSTN3 Nonsynonymous SNV T661N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 312548 chr2 191235809 191235809 G C INPP1 Nonsynonymous SNV S294T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 312549 chr11 92085623 92085623 C T rs76685441 FAT3 Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 312550 chr12 78401193 78401193 G A rs369799002 NAV3 Synonymous SNV P625P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.287 312551 chr20 31496079 31496079 A G EFCAB8 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 312552 chr11 33308291 33308291 G A HIPK3 Nonsynonymous SNV A111T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 312553 chrX 54950924 54950924 A G TRO Nonsynonymous SNV Y29C 0 0 0 2 0 0 0.005 0 0 0 0 1 14.95 312554 chr11 34904950 34904950 C T rs201621404 APIP Nonsynonymous SNV C188Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 312555 chr20 33330412 33330412 G A rs138755024 NCOA6 Synonymous SNV S1216S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.152 312556 chr20 33570278 33570278 G A rs751376955 MYH7B Nonsynonymous SNV G224S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 312557 chr1 27681958 27681958 C T MAP3K6 Nonsynonymous SNV G1256E 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312558 chrX 85403742 85403742 C A DACH2 Nonsynonymous SNV P40T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.264 312559 chr12 104144426 104144426 C T rs150301267 STAB2 Nonsynonymous SNV P2170S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.5 312560 chr2 210769669 210769669 C T rs1018832516 UNC80 Nonsynonymous SNV R1522W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 312561 chr12 104378698 104378698 - AGGATGCAAAGAAGAT TDG Frameshift insertion M184Ifs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 312562 chr3 48726144 48726144 C T rs746778515 IP6K2 Synonymous SNV S281S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 312563 chr2 216257813 216257813 C T rs375301501 FN1 Nonsynonymous SNV A1304T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 312564 chr3 49736469 49736469 C G rs779968385 RNF123 Nonsynonymous SNV A232G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 312565 chr20 39978946 39978946 G T rs141715302 LPIN3 Nonsynonymous SNV M338I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 312566 chr3 50324182 50324182 T C rs782623701 LSMEM2 Nonsynonymous SNV C83R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 312567 chr1 35835975 35835975 C T rs749108768 ZMYM4 Nonsynonymous SNV P310S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.08 312568 chr2 219508325 219508325 G A rs780801765 ZNF142 Nonsynonymous SNV P972S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 312569 chr12 110230568 110230568 G C rs185933892 TRPV4 Nonsynonymous SNV I464M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.2 312570 chr12 110240859 110240859 C A rs187864727 TRPV4 Nonsynonymous SNV A217S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 27.1 312571 chr12 110950638 110950638 T A rs570855214 RAD9B Nonsynonymous SNV I76N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 312572 chr12 3677942 3677942 C T rs201402290 PRMT8 Synonymous SNV S175S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 312573 chr1 38488379 38488379 T C rs748005467 UTP11 Synonymous SNV A192A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.58 312574 chr1 39720029 39720029 C T rs774114149 MACF1 Synonymous SNV D144D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 312575 chr20 49218829 49218829 C T rs887137638 RIPOR3 Nonsynonymous SNV S480N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.988 312576 chr20 49236588 49236588 C T rs113703688 RIPOR3 Synonymous SNV S68S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 312577 chr12 113875765 113875765 C A rs146573098 SDSL Nonsynonymous SNV L291I 0.002 0 0 0 2 0 0 0 1 0 0 0 28.9 312578 chr13 113761202 113761202 G A rs3093238 F7 Synonymous SNV P36P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.564 312579 chr12 117465210 117465210 A G FBXW8 Nonsynonymous SNV Q452R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 312580 chr2 220479832 220479832 C T rs200527328 STK11IP Synonymous SNV L962L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.37 312581 chr12 44196203 44196203 A G TWF1 Synonymous SNV F56F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 312582 chr12 120110194 120110194 G A rs201397246 PRKAB1 Nonsynonymous SNV R83Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 312583 chr13 20797027 20797027 G A rs200881320 GJB6 Nonsynonymous SNV A198V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.202 312584 chr13 21563189 21563189 C T rs375527776 LATS2 Nonsynonymous SNV A244T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.223 312585 chr12 121004647 121004647 C T RNF10 Synonymous SNV P640P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 312586 chr1 7910967 7910967 G A rs201000488 UTS2 Nonsynonymous SNV A40V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.205 312587 chr12 49087158 49087158 C A rs770699363 CCNT1 Nonsynonymous SNV M613I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 312588 chr12 121706451 121706451 G A rs202047341 CAMKK2 Synonymous SNV A205A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 312589 chr12 121855611 121855611 G A rs41507449 RNF34 Nonsynonymous SNV R177H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21 312590 chr20 6078265 6078265 C T rs202037230 FERMT1 Nonsynonymous SNV R288Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 312591 chr2 232663594 232663594 C T rs199527287 COPS7B Synonymous SNV L131L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.39 312592 chr12 124171472 124171472 C T rs138897437 TCTN2 Synonymous SNV L217L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.1 312593 chr3 108189610 108189610 C T MYH15 Nonsynonymous SNV D460N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 312594 chr13 32953604 32953604 G A rs59004709 BRCA2 Nonsynonymous SNV V2969M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 312595 chr12 124810029 124810029 G A rs765551355 NCOR2 Synonymous SNV L2432L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.594 312596 chr13 38164546 38164549 AAGT - POSTN Y134Lfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 312597 chr13 41943373 41943373 A C rs530475751 NAA16 Nonsynonymous SNV E634A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 312598 chr2 238668841 238668841 G A rs200583637 LRRFIP1 Synonymous SNV G238G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.562 312599 chr2 238738108 238738108 G T RBM44 Nonsynonymous SNV G951V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.422 312600 chr12 132416780 132416780 C A rs142954643 PUS1 Synonymous SNV R94R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 20.3 312601 chr13 49841796 49841796 C - CDADC1 Q201Sfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 312602 chr11 55433274 55433274 T C rs372752070 OR4C6 Nonsynonymous SNV I211T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.628 312603 chr2 241689865 241689865 C G rs186881889 KIF1A Synonymous SNV V885V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.87 312604 chr13 53035478 53035478 C G rs149254206 CKAP2 Nonsynonymous SNV P174A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 312605 chr1 19568863 19568863 T C EMC1 Nonsynonymous SNV K140R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 312606 chr13 98828990 98828990 G T rs138025858 RNF113B Synonymous SNV S167S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.341 312607 chr21 33684234 33684234 A G rs200448756 MRAP Nonsynonymous SNV N90S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.003 312608 chr3 9799514 9799514 G A rs767810914 CAMK1 Nonsynonymous SNV T310M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 312609 chr21 33738985 33738985 A G rs754697199 URB1 Nonsynonymous SNV V426A 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 312610 chr21 34925879 34925879 T A rs370367458 SON Nonsynonymous SNV S1448T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 312611 chr12 27924081 27924081 G T rs149746430 MANSC4 Synonymous SNV I43I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.174 312612 chr12 2922085 2922085 G T rs191429175 ITFG2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.842 312613 chr21 36410870 36410887 CTCTCTCTCTCTCTCTCT - rs141000231 RUNX1-IT1 0 0 0.007 0 0 0 0 2 0 0 1 0 312614 chr1 85096498 85096498 G A rs145572911 LINC01555 0 0 0.003 0 0 0 0 1 0 0 0 0 4.688 312615 chr3 10420942 10420942 C T rs181008668 ATP2B2 Nonsynonymous SNV A343T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.51 312616 chr3 10960050 10960050 C T SLC6A11 Synonymous SNV T344T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 312617 chr14 103187705 103187705 G A rs781329569 RCOR1 Nonsynonymous SNV A394T 0.001 0 0 0 1 0 0 0 0 0 0 0 35 312618 chr3 12845082 12845082 G A rs530014195 CAND2 Nonsynonymous SNV R55Q 0 0.003 0 0 0 1 0 0 0 0 0 0 17.04 312619 chr12 32136222 32136222 G A rs139342835 RESF1 Nonsynonymous SNV G778E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 312620 chr12 333647 333647 C T rs536589679 SLC6A13 Nonsynonymous SNV A273T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 312621 chr12 368953 368953 T C rs117603556 SLC6A13 Nonsynonymous SNV H89R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.638 312622 chr12 6575406 6575406 C T rs145088983 VAMP1 Synonymous SNV Q38Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.18 312623 chr12 463248 463248 G C rs2229352 KDM5A Synonymous SNV V341V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.94 312624 chr21 43896155 43896155 C T rs150400022 RSPH1 Nonsynonymous SNV A206T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.002 312625 chr14 105965126 105965126 G A rs781999003 TEDC1 Nonsynonymous SNV R342Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.861 312626 chr3 31666445 31666445 T C STT3B Synonymous SNV F589F 0 0.003 0 0 0 1 0 0 0 0 0 0 6.824 312627 chr3 158399854 158399854 C T GFM1 Nonsynonymous SNV P405S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 312628 chr12 50047034 50047034 C T rs768626175 FMNL3 Nonsynonymous SNV R382Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 312629 chr1 39341376 39341376 A G GJA9 Nonsynonymous SNV L132S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 312630 chr11 59271588 59271588 T A OR4D11 Nonsynonymous SNV D180E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 312631 chr12 50467875 50467875 G A rs951404187 ASIC1 Nonsynonymous SNV G170R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 312632 chr12 50571431 50571431 C T rs756628778 LIMA1 Nonsynonymous SNV E264K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 312633 chr12 50746655 50746655 C T rs181694910 FAM186A Synonymous SNV A1320A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 312634 chr3 39544203 39544231 GTCCCCTCCGAGGTCTGAGCGTCAGCCAC - MOBP S133Gfs*39 0 0 0 1 0 0 0.003 0 0 0 0 0 312635 chr21 47818156 47818156 C G rs35513449 PCNT Nonsynonymous SNV P1406R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.13 312636 chr3 178968605 178968605 C T rs141857463 KCNMB3 Synonymous SNV G58G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.828 312637 chr3 40085653 40085653 G A rs143603346 MYRIP Nonsynonymous SNV V75I 0 0.003 0 0 0 1 0 0 0 0 0 0 18.8 312638 chr22 17670888 17670888 G A rs774963498 ADA2 Stop gain R65X 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 35 312639 chr11 60711281 60711281 G A rs758537520 SLC15A3 Synonymous SNV A292A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 312640 chr12 52450935 52450935 G A rs137975531 NR4A1 Nonsynonymous SNV R418H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 312641 chr14 23863405 23863405 T A MYH6 Nonsynonymous SNV T853S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 312642 chr3 43647273 43647273 A G rs990712789 ANO10 Synonymous SNV A24A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.35 312643 chr14 23996839 23996839 C T ZFHX2 Nonsynonymous SNV E1037K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312644 chr20 20177325 20177325 C T rs142308308 CFAP61 Nonsynonymous SNV R568W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 312645 chr14 24040598 24040598 C T rs202151797 JPH4 Nonsynonymous SNV E448K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 312646 chr14 24705317 24705317 C T GMPR2 Nonsynonymous SNV R164W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 312647 chr12 52912843 52912843 G A rs750787121 KRT5 Synonymous SNV F219F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.654 312648 chr22 21328112 21328112 C G rs371361440 AIFM3 Nonsynonymous SNV A104G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 312649 chr3 47050534 47050534 G A rs888443131 NBEAL2 Nonsynonymous SNV V2661M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 312650 chr20 33517321 33517321 T C rs781651712 GSS Nonsynonymous SNV Y395C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 312651 chr3 48463550 48463550 C T PLXNB1 Nonsynonymous SNV R495K 0 0.003 0 0 0 1 0 0 0 0 0 0 11.5 312652 chr12 53722949 53722949 G A SP7 Nonsynonymous SNV P93S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 312653 chr22 31090238 31090238 T C rs1003339393 OSBP2 Nonsynonymous SNV M19T 0 0 0.003 0 0 0 0 1 0 0 0 0 13 312654 chr22 31284045 31284045 G A LOC107985544 0 0 0.003 0 0 0 0 1 0 0 0 0 4.529 312655 chr20 39977500 39977500 C T rs199523729 LPIN3 Nonsynonymous SNV P177L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.728 312656 chr3 49950746 49950746 C T rs370877712 MON1A Nonsynonymous SNV E109K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 312657 chr3 50324112 50324112 A G rs147362726 LSMEM2 Synonymous SNV T59T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 312658 chr3 52381888 52381888 T C DNAH1 Synonymous SNV S668S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.313 312659 chr22 36684792 36684792 T G MYH9 Nonsynonymous SNV K1584T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 312660 chr12 58220182 58220182 T C rs568891111 CTDSP2 Nonsynonymous SNV I120V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 312661 chr14 60212801 60212801 C T rs370975029 RTN1 Nonsynonymous SNV E214K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.21 312662 chr12 65563754 65563754 C T rs61736593 LEMD3 Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.01 312663 chr20 50225105 50225105 T G ATP9A Nonsynonymous SNV K899N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 312664 chr3 64084852 64084852 C G PRICKLE2 Nonsynonymous SNV V804L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.746 312665 chr22 39770360 39770360 G A SYNGR1 Nonsynonymous SNV G47S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 312666 chr12 69047957 69047957 C T rs137877515 RAP1B Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.44 312667 chr20 56138741 56138741 T C rs777624810 PCK1 Nonsynonymous SNV C307R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 312668 chr12 6978856 6978856 C T TPI1 Synonymous SNV N154N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 312669 chr11 66456232 66456232 C T rs372034500 SPTBN2 Synonymous SNV L2041L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 312670 chr12 7045160 7045160 G C rs139909258 ATN1 Nonsynonymous SNV V244L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.225 312671 chr14 68038498 68038498 T C PLEKHH1 Synonymous SNV F488F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.7 312672 chr12 78334170 78334170 A C NAV3 Nonsynonymous SNV Q105H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 312673 chr11 70200522 70200522 A G PPFIA1 Nonsynonymous SNV H760R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.66 312674 chr11 7081139 7081139 A G rs772178208 NLRP14 Nonsynonymous SNV H883R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.582 312675 chr12 9223138 9223138 G A rs778686209 A2M Synonymous SNV I1230I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.72 312676 chr3 119120906 119120906 G C rs752035106 ARHGAP31 Nonsynonymous SNV R436P 0 0.003 0 0 0 1 0 0 0 0 0 0 28 312677 chr21 27264121 27264121 G A rs148888161 APP Synonymous SNV G577G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.94 312678 chr13 78320989 78320989 A C SLAIN1 Synonymous SNV G133G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 312679 chr13 100623283 100623283 G A ZIC5 Nonsynonymous SNV P216L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 312680 chr13 100623601 100623601 G T rs76337191 ZIC5 Nonsynonymous SNV A110E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 312681 chr13 102568808 102568808 C T rs923051393 FGF14 Nonsynonymous SNV R63H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 312682 chr13 103388700 103388700 C T rs192069736 CCDC168 Nonsynonymous SNV A4783T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.097 312683 chr3 123166743 123166743 C G rs759713301 ADCY5 Nonsynonymous SNV R217P 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 312684 chr13 103515379 103515379 C A rs2227870 BIVM-ERCC5, ERCC5 Nonsynonymous SNV A627E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.23 312685 chr21 34655448 34655448 C G rs141328537 IL10RB Nonsynonymous SNV P183R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 312686 chr4 56830456 56830456 G A rs766575411 CEP135 Nonsynonymous SNV R239Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 312687 chr14 103371900 103371900 C T rs748634081 TRAF3 Nonsynonymous SNV L413F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 312688 chr21 39947586 39947586 C T rs141762536 ERG Synonymous SNV K13K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 312689 chr15 22892203 22892203 G C CYFIP1 Synonymous SNV G9G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.458 312690 chr15 25959284 25959284 G A ATP10A Synonymous SNV S627S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.235 312691 chr14 105407698 105407698 G A rs377637525 AHNAK2 Nonsynonymous SNV S4597L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.516 312692 chr13 25367324 25367324 T A rs74420609 RNF17 Synonymous SNV P360P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.017 312693 chr13 25367325 25367325 C T rs74430232 RNF17 Nonsynonymous SNV P361S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.054 312694 chr13 25424583 25424583 T C rs80135321 RNF17 0.001 0 0 0 1 0 0 0 0 0 0 0 1.742 312695 chr13 25487096 25487096 T C rs116981543 CENPJ Nonsynonymous SNV N23S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.645 312696 chr13 25487103 25487103 T A rs35498994 CENPJ Nonsynonymous SNV M21L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 312697 chr2 121747485 121747485 T C GLI2 Nonsynonymous SNV M1332T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.332 312698 chr13 28712704 28712704 C A rs187574197 PAN3-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 312699 chr13 31722567 31722567 A G rs889370174 HSPH1 Synonymous SNV D320D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 312700 chr13 32792912 32792912 C T FRY Nonsynonymous SNV T1570I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 312701 chr3 138423291 138423291 A G PIK3CB Synonymous SNV N525N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.681 312702 chr14 21464955 21464955 G A rs199822122 METTL17 Nonsynonymous SNV R426H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 312703 chr12 101794920 101794920 C T ARL1 Nonsynonymous SNV D40N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 312704 chr13 33017869 33017869 T C rs139345781 N4BP2L2 Nonsynonymous SNV N254D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 312705 chr3 141006211 141006211 G A rs545061605 PXYLP1 Nonsynonymous SNV G141R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.53 312706 chr21 46276171 46276171 G A rs751876287 PTTG1IP Nonsynonymous SNV P129L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.164 312707 chr3 141526752 141526752 T G GRK7 Stop gain L439X 0 0.003 0 0 0 1 0 0 0 0 0 0 43 312708 chr15 40631802 40631802 G A rs372352300 CCDC9B Nonsynonymous SNV R92W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 312709 chr15 40913372 40913372 C T rs750955272 KNL1 Nonsynonymous SNV R304W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.3 312710 chr12 10373091 10373091 C T rs570460259 GABARAPL1 Synonymous SNV D74D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 312711 chr13 39263556 39263556 G A rs367642497 FREM2 Nonsynonymous SNV R692H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 312712 chr4 87656788 87656788 C T rs200528089 PTPN13 Synonymous SNV P731P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 312713 chr2 148696797 148696797 - A ORC4 Frameshift insertion T207Nfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 312714 chr13 41767959 41767959 G A rs140877303 KBTBD7 Synonymous SNV Y145Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.708 312715 chr13 42763387 42763387 G A rs149645025 DGKH Nonsynonymous SNV M373I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 312716 chr13 42872716 42872716 A G rs142812726 AKAP11 Synonymous SNV S133S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.412 312717 chr14 23311827 23311827 G A MMP14 Nonsynonymous SNV G197S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312718 chr14 23313584 23313584 G A rs140740223 MMP14 Nonsynonymous SNV R339H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 312719 chr3 160146626 160146626 T C rs763435539 SMC4 Synonymous SNV H897H 0 0 0 1 0 0 0.003 0 0 0 0 0 5.832 312720 chr13 47470943 47470943 T C HTR2A Nonsynonymous SNV Q9R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 312721 chr13 48528283 48528283 C T rs117412559 SUCLA2 Nonsynonymous SNV D367N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.7 312722 chr13 49281669 49281669 G A rs199903030 CYSLTR2 Nonsynonymous SNV R239Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 312723 chr13 49885009 49885009 C T rs201752817 CAB39L Nonsynonymous SNV A319T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.89 312724 chr15 50223345 50223345 T C rs143788989 ATP8B4 Nonsynonymous SNV N538S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 312725 chr3 171452672 171452672 G C PLD1 Nonsynonymous SNV Q175E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.151 312726 chr13 52513266 52513266 T C rs7334118 ATP7B Nonsynonymous SNV H1000R 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.4 312727 chr13 72204689 72204689 G C rs144078930 DACH1 Synonymous SNV V375V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.782 312728 chr13 73320892 73320892 A C rs9573025 BORA Synonymous SNV S324S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 312729 chr13 73409497 73409497 G A rs17089782 PIBF1 Nonsynonymous SNV R405Q 0.002 0 0 0 2 0 0 0 1 0 0 0 Conflicting interpretations of pathogenicity 35 312730 chr2 170009350 170009350 G A rs34663643 LRP2 Synonymous SNV Y4140Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.3 312731 chr14 31782259 31782259 T C rs971674289 HEATR5A Synonymous SNV T1452T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.577 312732 chr12 116418558 116418558 A T MED13L Synonymous SNV P1787P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.48 312733 chr15 54786816 54786816 T C rs747783124 UNC13C Synonymous SNV N1648N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.898 312734 chr2 171260877 171260877 C T rs371731248 MYO3B Nonsynonymous SNV R800W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 312735 chr12 120984280 120984280 T G rs780462991 RNF10 Nonsynonymous SNV F77C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 312736 chr14 36158137 36158137 G A rs147453109 RALGAPA1 Synonymous SNV S1113S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 312737 chr2 176964653 176964653 A G rs202101963 HOXD12 Nonsynonymous SNV I42V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 312738 chr2 176982026 176982026 T C rs141770128 HOXD10 Synonymous SNV S155S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.168 312739 chr2 177016635 177016635 C A rs376322574 HOXD4 Nonsynonymous SNV P92T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 312740 chr14 103369741 103369741 C T rs1051743 TRAF3 Synonymous SNV S287S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.21 312741 chr2 179452022 179452022 G A rs773942316 TTN Nonsynonymous SNV R12241C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 312742 chr15 65223053 65223053 C T rs768567148 ANKDD1A Nonsynonymous SNV R202W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 312743 chr14 105071055 105071055 G A rs12433571 TMEM179 Synonymous SNV F8F 0.001 0 0 0 1 0 0 0 0 0 0 0 12 312744 chr14 105237155 105237155 C T rs779447501 AKT1 Synonymous SNV T430T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.25 312745 chr14 105350843 105350843 C T CEP170B Nonsynonymous SNV A506V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.807 312746 chr14 105361048 105361048 T G CEP170B Nonsynonymous SNV V1438G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 312747 chr15 68489907 68489907 G C rs770912282 CALML4 Nonsynonymous SNV Q7E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 312748 chr14 105614734 105614734 C T rs78154277 JAG2 Nonsynonymous SNV R650H 0.002 0 0 0 2 0 0 0 1 0 0 0 22.9 312749 chr14 20404076 20404076 A T rs114526346 OR4K1 Nonsynonymous SNV D84V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 312750 chr14 20528218 20528218 T C OR4L1 Synonymous SNV N5N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.084 312751 chr14 55655717 55655717 C T rs149323762 DLGAP5 Nonsynonymous SNV V61I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 312752 chr2 186656301 186656301 A G FSIP2 Nonsynonymous SNV I1480V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.008 312753 chr14 20586368 20586368 G A rs146537080 OR4K17 Nonsynonymous SNV R240H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 312754 chr1 169761918 169761918 G C rs146549832 METTL18 Nonsynonymous SNV Q307E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 312755 chr22 38933637 38933637 C - DMC1 Stop gain V211* 0 0 0.003 0 0 0 0 1 0 0 0 0 312756 chr2 186671817 186671817 T C rs202202975 FSIP2 Synonymous SNV Y5928Y 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.002 312757 chr14 21549854 21549854 G A rs113904789 ARHGEF40 Nonsynonymous SNV A229T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 312758 chr4 2514816 2514816 A G rs61738929 RNF4 Nonsynonymous SNV Q74R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.522 312759 chr12 133244956 133244956 T C POLE Nonsynonymous SNV K720R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 312760 chr4 2951803 2951803 C T rs775352796 NOP14 Synonymous SNV L380L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.211 312761 chr1 179100531 179100531 G A rs200064313 ABL2 Synonymous SNV L81L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.62 312762 chr4 3318085 3318085 A T rs537451677 RGS12 Nonsynonymous SNV Q63L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 312763 chr2 201521609 201521609 C T rs114924183 AOX1 Synonymous SNV V1040V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.27 312764 chr4 3318242 3318242 A T rs542789816 RGS12 Nonsynonymous SNV E115D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 312765 chr4 3318253 3318253 G T rs572193460 RGS12 Nonsynonymous SNV W119L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.57 312766 chr4 169799183 169799183 G A PALLD Synonymous SNV S47S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 312767 chr14 23353980 23353980 C T rs17123789 REM2 Synonymous SNV G67G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 312768 chr2 202149561 202149561 A C CASP8 Nonsynonymous SNV E260D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 312769 chr12 18891663 18891663 G T rs146799170 CAPZA3 Nonsynonymous SNV C154F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 312770 chr12 19282763 19282763 C T rs139525088 PLEKHA5 Synonymous SNV I10I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 312771 chr14 23511853 23511853 G A rs373716436 PSMB11 Nonsynonymous SNV R140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 312772 chr2 203997822 203997822 A G NBEAL1 Nonsynonymous SNV I1227V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 312773 chr15 86118516 86118516 A G rs202065769 AKAP13 Nonsynonymous SNV T273A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.74 312774 chr14 24657767 24657767 G A rs934349401 IPO4 Synonymous SNV A49A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 312775 chr15 86822995 86822995 A G rs746597440 AGBL1 Nonsynonymous SNV Y734C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 312776 chr22 50615414 50615414 G A rs1018342641 PANX2 Synonymous SNV Q91Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 312777 chr2 20901353 20901353 T C rs1001799761 LDAH Nonsynonymous SNV T125A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.085 312778 chr15 88680657 88680657 G T rs767478049 NTRK3 Nonsynonymous SNV F200L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.46 312779 chr14 75019727 75019727 C T LTBP2 Nonsynonymous SNV V354I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 312780 chr14 33293686 33293686 G C AKAP6 Nonsynonymous SNV E2223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 312781 chr14 34145584 34145584 C T rs144972549 NPAS3 Synonymous SNV P212P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 312782 chr4 10566326 10566326 G A rs555801267 CLNK Nonsynonymous SNV P123L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.862 312783 chr14 77580335 77580335 C G rs200854666 CIPC Nonsynonymous SNV P292A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.8 312784 chr1 201012478 201012478 T C CACNA1S Nonsynonymous SNV N1660S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 312785 chr4 24810383 24810383 C T rs772122753 CCDC149 Synonymous SNV A406A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 312786 chr14 39716465 39716465 G T MIA2 Nonsynonymous SNV L229F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 312787 chr4 37435593 37435593 C T rs183200253 NWD2 Synonymous SNV H219H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.07 312788 chr2 219611917 219611917 A G rs751921449 TTLL4 Synonymous SNV P722P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 312789 chr5 6607399 6607399 C T rs1055478673 NSUN2 Synonymous SNV P439P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.4 312790 chr2 220437316 220437316 C G INHA Nonsynonymous SNV P74A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.494 312791 chr14 55619357 55619357 A G DLGAP5 Nonsynonymous SNV I691T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.208 312792 chr5 31541108 31541108 A G rs114615951 C5orf22 Nonsynonymous SNV N287S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 312793 chr16 1275236 1275236 C G rs779459479 TPSG1 Nonsynonymous SNV C6S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 312794 chr12 49446032 49446032 T A rs770225131 KMT2D Synonymous SNV P478P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.435 312795 chr14 59835574 59835574 - TAAT DAAM1 Stop gain F1068_X1069delinsFX 0.001 0 0 0 1 0 0 0 0 0 0 0 312796 chr5 34929955 34929955 C T DNAJC21 Nonsynonymous SNV R11W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 312797 chr4 57164505 57164505 A G rs199976955 CRACD Nonsynonymous SNV K37R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 312798 chr14 62188227 62188227 G A HIF1A Nonsynonymous SNV G100D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 312799 chr16 15844140 15844140 G A rs771128441 MYH11 Nonsynonymous SNV S638L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 312800 chr14 64540823 64540823 A G rs78110192 SYNE2 Nonsynonymous SNV Q3612R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.16 312801 chr14 64596905 64596905 A G rs1006840235 SYNE2 Nonsynonymous SNV H4760R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 312802 chr14 64954683 64954683 A G rs61742301 ZBTB25 Nonsynonymous SNV I89T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.628 312803 chr2 234720572 234720572 G A rs116409079 MROH2A Nonsynonymous SNV R873Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 312804 chr14 68196098 68196099 GT - rs754030243 RDH12 0.001 0 0 0 1 0 0 0 0 0 0 0 312805 chr14 70246055 70246056 AA - SLC10A1 L197Vfs*80 0.001 0 0 0 1 0 0 0 0 0 0 0 312806 chr14 71199532 71199532 A G MAP3K9 Nonsynonymous SNV S585P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 312807 chr16 20944655 20944655 T C rs143778940 DNAH3 Nonsynonymous SNV M4012V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 312808 chr15 31198060 31198060 G A rs141494062 FAN1 Synonymous SNV E398E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.713 312809 chr2 238475760 238475760 G A rs144703716 PRLH Nonsynonymous SNV R69Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.654 312810 chr16 2139950 2139950 G A rs148433208 PKD1 Synonymous SNV N4229N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.823 312811 chr14 74205941 74205941 - TGCTGCTGT rs756007023 ELMSAN1 Q262_A263insQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 312812 chr15 31819495 31819495 G A rs765724002 OTUD7A Synonymous SNV H223H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.255 312813 chr14 77492515 77492515 G C IRF2BPL Nonsynonymous SNV L541V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.525 312814 chr14 77845146 77845146 T C rs532629103 SAMD15 Nonsynonymous SNV L462S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.848 312815 chr4 80246857 80246857 T C rs780594037 NAA11 Nonsynonymous SNV K59E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 312816 chr14 81227865 81227865 T C rs74483141 CEP128 Synonymous SNV E823E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.397 312817 chr16 27473708 27473708 G A GTF3C1 Synonymous SNV Y1983Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.003 312818 chr4 83372208 83372208 G A rs149795346 ENOPH1 Nonsynonymous SNV A67T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.94 312819 chr2 241991789 241991789 C T SNED1 Nonsynonymous SNV R663W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 312820 chr16 2983539 2983539 A G rs199772403 FLYWCH1 Nonsynonymous SNV Q402R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.028 312821 chr15 42111469 42111469 C T MAPKBP1 Nonsynonymous SNV P773S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 312822 chr4 88732794 88732794 C A IBSP Nonsynonymous SNV T229N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 312823 chr14 94156494 94156494 A G UNC79 Nonsynonymous SNV I2235V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 312824 chr16 3085469 3085469 G A rs540888516 BICDL2 Nonsynonymous SNV P10L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 312825 chr14 95030374 95030374 C T rs758574523 SERPINA4 Synonymous SNV H222H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.217 312826 chr15 42821950 42821950 A T rs200522839 SNAP23 Nonsynonymous SNV D115V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 312827 chr15 42980763 42980763 A G rs201089701 STARD9 Synonymous SNV Q2329Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.838 312828 chr14 96768380 96768380 T G rs74719094 ATG2B Nonsynonymous SNV R1701S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 312829 chr16 3255064 3255064 T C rs928640913 OR1F1 Nonsynonymous SNV M273T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 312830 chr15 43769807 43769807 G C TP53BP1 Nonsynonymous SNV D313E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.785 312831 chr15 44867119 44867119 - A rs312262775 SPG11 Frameshift insertion C1996Lfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 312832 chr15 102191919 102191919 G C rs146538174 TM2D3 Nonsynonymous SNV T50R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 312833 chr4 106158303 106158303 A G TET2 Synonymous SNV Q1068Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.056 312834 chr2 32429755 32429755 A C rs376875798 SLC30A6 Nonsynonymous SNV L57F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 312835 chr12 50043307 50043307 G A FMNL3 Synonymous SNV I699I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 312836 chr12 50467964 50467964 G A ASIC1 Synonymous SNV L199L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 312837 chr16 48201473 48201473 G A rs771718361 ABCC11 Synonymous SNV L1330L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.022 312838 chr2 182756938 182756938 - AGGACGAGGAGG ITPRID2 D58_L59insEEED 0 0 0.003 0 0 0 0 1 0 0 0 0 312839 chr15 38856818 38856818 C T rs80309120 RASGRP1 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.86 312840 chr15 40661746 40661746 G A rs2412512 DISP2 Nonsynonymous SNV G1145S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 312841 chr15 40917613 40917613 T C rs74377704 KNL1 Synonymous SNV P1717P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.017 312842 chr15 59806622 59806622 G C rs767189860 FAM81A Nonsynonymous SNV S262T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 312843 chr15 42168368 42168368 C T rs138385091 SPTBN5 Nonsynonymous SNV E1356K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 312844 chr5 123984724 123984724 G A ZNF608 Synonymous SNV F451F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.445 312845 chr4 141464721 141464721 A T rs150835853 ELMOD2 Nonsynonymous SNV E239D 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 312846 chr4 145916666 145916666 A C rs199788158 ANAPC10 Nonsynonymous SNV I139M 0 0.003 0 0 0 1 0 0 0 0 0 0 23 312847 chr15 63946410 63946410 G A rs187940173 HERC1 Nonsynonymous SNV R3400C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 312848 chr15 44131861 44131861 G A rs200712077 WDR76 Nonsynonymous SNV V159I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.452 312849 chr15 64506300 64506300 G A rs373688886 CSNK1G1 Synonymous SNV H156H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.325 312850 chr16 67184314 67184314 G A B3GNT9 Synonymous SNV L25L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.46 312851 chr16 67199458 67199458 C A rs184475114 HSF4 Nonsynonymous SNV R53S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 312852 chr15 65444824 65444824 T C CLPX Synonymous SNV V585V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.401 312853 chr16 67574264 67574264 A G RIPOR1 Nonsynonymous SNV K214R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 312854 chr5 134240837 134240837 - GGTGCTCGG PCBD2 G6_A7insVLG 0.001 0 0 0 1 0 0 0 0 0 0 0 312855 chr12 89891080 89891080 A G rs749361904 POC1B Nonsynonymous SNV F5S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 312856 chr2 7005237 7005237 C A rs371846668 CMPK2 Nonsynonymous SNV E197D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 312857 chr2 1652931 1652931 C T rs753691649 PXDN Nonsynonymous SNV R874H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 312858 chr15 49054772 49054772 C A rs2289178 CEP152 Nonsynonymous SNV S793I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 312859 chr15 49088354 49088354 G C rs577752924 CEP152 Nonsynonymous SNV P182A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 312860 chr16 70713221 70713221 G T rs145949236 MTSS2 Nonsynonymous SNV L155I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 312861 chr15 51828983 51828983 T C DMXL2 Nonsynonymous SNV Y565C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 312862 chr2 71906211 71906211 G A DYSF Nonsynonymous SNV R1917H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 312863 chr2 74454991 74454991 C T rs370345838 SLC4A5 Synonymous SNV P954P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 312864 chr15 56386514 56386514 T A rs117724392 RFX7 Nonsynonymous SNV N1041Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 312865 chr12 99076933 99076933 A G rs779144426 APAF1 Nonsynonymous SNV M676V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.473 312866 chr15 64966526 64966526 C T rs142932639 ZNF609 Synonymous SNV S491S 0.002 0 0 0 2 0 0 0 1 0 0 0 10.21 312867 chr16 81253882 81253882 G T PKD1L2 Nonsynonymous SNV Q32K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 312868 chr2 220286194 220286194 C T rs369765867 DES Nonsynonymous SNV R386C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 312869 chr4 186361699 186361699 G A rs569979374 C4orf47 Synonymous SNV A54A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 312870 chr2 220353371 220353371 T C SPEG Synonymous SNV C2670C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.461 312871 chr15 69323959 69323959 C G rs78571685 NOX5 Nonsynonymous SNV P115A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 312872 chr2 225400311 225400311 C T rs377001338 CUL3 Synonymous SNV T38T 0 0 0.003 0 0 0 0 1 0 0 0 0 15 312873 chr5 1038446 1038446 - CACCACCAC rs765671712 NKD2 H447_F448insHHH 0 0.003 0 0 0 1 0 0 0 0 0 0 312874 chr5 1037986 1037986 G A rs368005498 NKD2 Nonsynonymous SNV R285H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.5 312875 chr15 75043593 75043593 G A rs35796837 CYP1A2 Nonsynonymous SNV G299S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.848 312876 chr16 85832776 85832776 G T rs199796380 EMC8 Synonymous SNV L42L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.217 312877 chr5 13716796 13716796 C T rs138045391 DNAH5 Nonsynonymous SNV V4237I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.92 312878 chr15 79606191 79606191 C T rs142797721 TMED3 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 312879 chr3 120976021 120976021 G A rs370605827 STXBP5L Nonsynonymous SNV R558Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 312880 chr15 85400499 85400499 C T rs115292211 ALPK3 Nonsynonymous SNV P844S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.03 312881 chr3 122418366 122418366 T G rs748042003 PARP14 Nonsynonymous SNV F322C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 312882 chr16 89169017 89169017 C T rs150374081 ACSF3 Synonymous SNV T224T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.87 312883 chr13 52520502 52520502 G T ATP7B Nonsynonymous SNV T786K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 312884 chr16 89346657 89346657 A G ANKRD11 Nonsynonymous SNV L2098P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 312885 chr15 86697675 86697675 C T rs150261781 AGBL1 Nonsynonymous SNV R93W 0.001 0 0 0 1 0 0 0 0 0 0 0 29 312886 chr15 86807790 86807790 C T rs8029810 AGBL1 Nonsynonymous SNV P463L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 312887 chr15 89395245 89395245 G A rs137972043 ACAN Synonymous SNV V749V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.361 312888 chr5 43453978 43453978 C T rs148412581 TMEM267 Nonsynonymous SNV V32I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.81 312889 chr17 10399690 10399690 G A rs140601643 MYH1 Synonymous SNV S1611S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.244 312890 chr17 10428864 10428864 G C MYH2 Nonsynonymous SNV R1481G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 312891 chr17 15207298 15207298 C T rs200607456 TEKT3 Nonsynonymous SNV M476I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 312892 chr3 130110197 130110197 C G rs374746006 COL6A5 Nonsynonymous SNV I864M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 312893 chr3 130159668 130159668 G C rs368345789 COL6A5 Nonsynonymous SNV R2162S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 312894 chr17 16021289 16021289 C T rs200069740 NCOR1 Synonymous SNV T547T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.78 312895 chr15 91485698 91485698 G C rs145502142 UNC45A Nonsynonymous SNV R95P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 312896 chr15 91491921 91491921 C T rs374735140 UNC45A Nonsynonymous SNV A447V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 312897 chr15 91543010 91543010 T C rs148071246 VPS33B Synonymous SNV E530E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.558 312898 chr3 133166193 133166193 C T rs375822049 BFSP2 Synonymous SNV L174L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 312899 chr5 64905274 64905274 A G rs115089508 TRIM23 Synonymous SNV T280T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.944 312900 chr5 65054587 65054587 G A rs34339013 NLN Nonsynonymous SNV G79S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 6.093 312901 chr16 18820918 18820918 C G rs200750577 SMG1 Synonymous SNV L3653L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.458 312902 chr2 29247205 29247205 C G TOGARAM2 Synonymous SNV A415A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.224 312903 chr16 1004539 1004539 G C LMF1 Nonsynonymous SNV F107L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.48 312904 chr16 2013051 2013051 C T rs772155782 SNORA64 0.001 0 0 0 1 0 0 0 0 0 0 0 8.244 312905 chr5 71491562 71491562 G C rs199792777 MAP1B Nonsynonymous SNV A668P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.262 312906 chr2 32740696 32740696 C A BIRC6 Synonymous SNV T3736T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.689 312907 chr14 20389591 20389591 A G OR4K5 Nonsynonymous SNV T276A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.288 312908 chr16 230734 230734 A G rs746648542 HBQ1 Synonymous SNV Q55Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.432 312909 chr2 99412703 99412703 C T rs148191766 KIAA1211L Nonsynonymous SNV V877I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 312910 chr2 99980145 99980145 G A EIF5B Synonymous SNV K319K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.08 312911 chr3 150608764 150608764 C T rs1010672445 MINDY4B Synonymous SNV A216A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 312912 chr16 1552761 1552761 C T rs74466211 TELO2 Nonsynonymous SNV P590L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.489 312913 chr3 164906526 164906526 A C rs765557566 SLITRK3 Nonsynonymous SNV L698R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 312914 chr3 164908036 164908036 C A SLITRK3 Nonsynonymous SNV A195S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 312915 chr3 167246967 167246967 - TA WDR49 Frameshift insertion K408Ifs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 312916 chr3 169846580 169846580 A T rs199663195 PHC3 Synonymous SNV L548L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 312917 chr3 171417568 171417568 A G rs189007492 PLD1 Synonymous SNV R398R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.446 312918 chr16 3108633 3108633 G A MMP25 Synonymous SNV A460A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 312919 chr16 20974687 20974687 C T rs559479506 DNAH3 Nonsynonymous SNV D3461N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 312920 chr16 21049155 21049155 A C rs144717900 DNAH3 Nonsynonymous SNV S1580R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.65 312921 chr16 31539829 31539829 G A AHSP Synonymous SNV E42E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.994 312922 chr16 2121610 2121610 G A rs45509392 TSC2 Nonsynonymous SNV D447N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 32 312923 chr14 23884263 23884263 C T rs143362532 MYH7 Nonsynonymous SNV A1834T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.31 312924 chr5 112770091 112770091 T C TSSK1B Nonsynonymous SNV N149S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.105 312925 chr16 216090 216090 T C rs148323035 HBM 0.001 0 0 0 1 0 0 0 0 0 0 0 9.166 312926 chr2 122485439 122485439 - GA rs561007941 NIFK Frameshift insertion Q248Lfs*6 0.001 0 0 1 1 0 0.003 0 0 0 0 0 312927 chr17 31348259 31348259 C T rs759168920 ASIC2 Synonymous SNV A422A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.79 312928 chr3 183525784 183525784 G C YEATS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.269 312929 chr16 23716278 23716278 C A ERN2 Nonsynonymous SNV W260C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 312930 chr2 85866493 85866493 G A rs770205593 USP39 Synonymous SNV K318K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 312931 chr3 184910322 184910322 G A rs199916968 EHHADH Nonsynonymous SNV R526C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 29.5 312932 chr5 134193062 134193062 C G rs373114001 C5orf24 Nonsynonymous SNV A148G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.72 312933 chr16 4745145 4745145 A G rs151099905 NUDT16L1 Nonsynonymous SNV K114E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 312934 chr16 4745146 4745146 A C rs141042248 NUDT16L1 Nonsynonymous SNV K114T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 312935 chr16 30081476 30081476 C T rs77290575 ALDOA Synonymous SNV S346S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.162 312936 chr16 3021869 3021869 G A rs559793587 PAQR4 Nonsynonymous SNV V174M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 312937 chr16 30364885 30364885 C T rs147941382 CD2BP2 Synonymous SNV G204G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 312938 chr16 30671184 30671186 GGG - FBRS G117del 0.001 0 0 0 1 0 0 0 0 0 0 0 312939 chr14 50272836 50272836 G T NEMF Nonsynonymous SNV P566Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 312940 chr16 3119245 3119245 C T IL32 Synonymous SNV C143C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.192 312941 chr16 347931 347931 G A rs1805102 AXIN1 Synonymous SNV D525D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.557 312942 chr16 56969380 56969380 A G rs142638966 HERPUD1 Nonsynonymous SNV N97S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 312943 chr3 113313776 113313776 G T MIR4446 0 0 0.003 0 0 0 0 1 0 0 0 0 0.901 312944 chr17 39156032 39156032 G T rs767914632 KRTAP3-2 Nonsynonymous SNV S25Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 312945 chr5 140720144 140720144 G T rs199852408 PCDHGA2 Nonsynonymous SNV D536Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 312946 chr3 27760315 27760315 C T rs371656694 EOMES Nonsynonymous SNV V410M 0 0 0.003 0 0 0 0 1 0 0 0 0 28 312947 chr16 4873852 4873852 G A rs748042613 GLYR1 Synonymous SNV A117A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 312948 chr5 140256763 140256763 C A rs370071106 PCDHA12 Nonsynonymous SNV P569Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.91 312949 chr5 140348432 140348432 A G rs781874732 PCDHAC2 Nonsynonymous SNV H694R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 312950 chr5 140431206 140431206 G A rs782732007 PCDHB1 Nonsynonymous SNV D51N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 312951 chr5 145641201 145641201 A G rs200810959 RBM27 Synonymous SNV E674E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.634 312952 chr5 140764204 140764204 C T rs764454496 PCDHGA7 Nonsynonymous SNV R580C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 312953 chr5 140792931 140792931 G A rs759265336 PCDHGA10 Synonymous SNV L63L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.03 312954 chr14 65417771 65417771 C T rs139462901 RAB15 Synonymous SNV L115L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.662 312955 chr14 67864403 67864403 G A rs199994324 PLEK2 Synonymous SNV P61P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 312956 chr3 39227495 39227495 C T rs142860074 XIRP1 Nonsynonymous SNV V1148M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 312957 chr16 74919675 74919675 A G WDR59 Synonymous SNV N855N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.221 312958 chr3 127398982 127398982 G A rs142290721 ABTB1 Nonsynonymous SNV R253Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 312959 chr17 40997142 40997142 G A rs761130992 AOC2 Nonsynonymous SNV V167M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 312960 chr14 74387793 74387793 G A ZNF410 Nonsynonymous SNV E299K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 312961 chr16 67229794 67229814 CAGCAGCAGCAGCAGCAGCAG - E2F4 S313_S319del 0.001 0 0 0 1 0 0 0 0 0 0 0 312962 chr16 67859853 67859853 C T rs767007632 TSNAXIP1 Nonsynonymous SNV R271C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 312963 chr14 74995745 74995745 G T LTBP2 Synonymous SNV R690R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 312964 chr16 70501314 70501314 C T rs35036235 FCSK Synonymous SNV I174I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 312965 chr16 84213082 84213082 A G TAF1C Nonsynonymous SNV L360P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 312966 chr16 71509685 71509685 C T rs2288489 ZNF19 Synonymous SNV T255T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 312967 chr5 159680581 159680581 G A rs187903121 CCNJL Nonsynonymous SNV S323L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 312968 chr16 72188287 72188287 A G PMFBP1 Synonymous SNV H79H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.476 312969 chr5 162900426 162900426 C T rs77608747 HMMR Nonsynonymous SNV A169V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.4 312970 chr16 72993725 72993725 G A rs145239736 ZFHX3 Nonsynonymous SNV P107L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 312971 chr16 74937998 74937998 T C rs61733727 WDR59 Synonymous SNV R571R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 312972 chr16 75033732 75033732 G A ZNRF1 Nonsynonymous SNV A55T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 312973 chr16 75573991 75573991 A G TMEM231 Synonymous SNV F337F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 312974 chr14 89878535 89878535 G C FOXN3 Nonsynonymous SNV P96A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.227 312975 chr17 48274385 48274385 T A rs374947065 COL1A1 Nonsynonymous SNV M264L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 312976 chr3 49699197 49699197 A G rs145931220 BSN Nonsynonymous SNV S3307G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 312977 chr3 49764826 49764826 C T rs754376936 IP6K1 Nonsynonymous SNV R187H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 312978 chr14 91770084 91770084 T C rs759543877 CCDC88C Nonsynonymous SNV H1199R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.8 312979 chr14 92159499 92159499 G C rs758678673 CATSPERB Nonsynonymous SNV L268V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 312980 chr16 88105802 88105802 A G BANP Nonsynonymous SNV H438R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 312981 chr16 78458915 78458915 C G rs75559202 WWOX Nonsynonymous SNV P139A 0.002 0 0.003 0 2 0 0 1 1 0 0 0 Benign 22.4 312982 chr3 50379924 50379924 G A rs202147494 ZMYND10 Synonymous SNV D254D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.111 312983 chr5 175919227 175919227 G A rs761418261 FAF2 Nonsynonymous SNV R126H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 312984 chr2 206869806 206869806 G A rs373210904 INO80D Synonymous SNV G790G 0 0 0 1 0 0 0.003 0 0 0 0 0 5.357 312985 chr16 81953195 81953195 G A rs187454354 PLCG2 Nonsynonymous SNV E721K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.4 312986 chr14 95906315 95906315 T A rs78302139 SYNE3 Nonsynonymous SNV K670M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 312987 chr16 840645 840645 C T rs4984927 CHTF18 Synonymous SNV Y291Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 312988 chr5 179225928 179225928 C T MGAT4B Nonsynonymous SNV R463Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 312989 chr16 84488444 84488444 G A rs142596443 ATP2C2 Synonymous SNV A516A 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 8.041 312990 chr3 168838924 168838924 G A MECOM Nonsynonymous SNV P163L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 312991 chr5 179545642 179545642 G A RASGEF1C Synonymous SNV H350H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.113 312992 chr3 63981837 63981837 C A rs375419943 ATXN7 Nonsynonymous SNV P635H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 312993 chr16 84695361 84695361 G A rs150918515 KLHL36 Synonymous SNV L428L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.932 312994 chr5 180622520 180622520 C T TRIM7 Synonymous SNV S212S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.88 312995 chr17 60088388 60088388 A G MED13 Nonsynonymous SNV L497P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 312996 chr16 89799942 89799942 T C rs779184611 ZNF276 Nonsynonymous SNV Y445H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 312997 chr3 69038101 69038101 T C EOGT Nonsynonymous SNV H300R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 312998 chr5 180627068 180627068 G T rs201559417 TRIM7 Nonsynonymous SNV A29E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.72 312999 chr16 85694968 85694968 C T rs116863796 GSE1 Synonymous SNV A515A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 313000 chr16 85954801 85954801 G A rs2270503 IRF8 Synonymous SNV P194P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.989 313001 chr3 180366117 180366117 C A rs147383873 CCDC39 Nonsynonymous SNV G400C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 313002 chr16 87364951 87364951 C T rs550271598 FBXO31 Synonymous SNV A521A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 313003 chr3 183273292 183273292 G A rs201171041 KLHL6 Synonymous SNV D50D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 313004 chr16 88496042 88496042 G T rs989136489 ZNF469 Nonsynonymous SNV A722S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 313005 chr15 31352840 31352840 G A rs761827027 TRPM1 Synonymous SNV N407N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.138 313006 chr16 88496640 88496640 G A rs936028681 ZNF469 Nonsynonymous SNV R921Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.798 313007 chr3 97661259 97661259 C T rs376510137 CRYBG3 Synonymous SNV L2932L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 313008 chr3 9800918 9800918 G A rs200671787 OGG1 Nonsynonymous SNV A317T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.937 313009 chr15 34152824 34152824 A G rs746322801 RYR3 Synonymous SNV L4771L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.185 313010 chr17 16472425 16472425 C T ZNF287 Nonsynonymous SNV G34R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.429 313011 chr4 106156401 106156401 C T TET2 Synonymous SNV H434H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.964 313012 chr15 41145365 41145365 A G rs763467419 SPINT1 Synonymous SNV V173V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.971 313013 chr2 227872825 227872825 G A rs762613810 COL4A4 Nonsynonymous SNV A1573V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.5 313014 chr16 89775684 89775684 G A rs201628202 VPS9D1 Synonymous SNV L516L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.901 313015 chr17 18052894 18052894 G A rs200000232 MYO15A Synonymous SNV A2404A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 313016 chr17 71437031 71437031 G A SDK2 Synonymous SNV P215P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.68 313017 chr6 26017721 26017721 G A rs371630523 H1-1 Synonymous SNV N80N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.498 313018 chr4 120194839 120194839 C A rs202084651 USP53 Nonsynonymous SNV L692I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.38 313019 chr4 120474813 120474813 C T rs749396832 PDE5A Nonsynonymous SNV D430N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 313020 chr3 196198914 196198914 T C RNF168 Nonsynonymous SNV N498D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.685 313021 chr3 196387582 196387582 C T rs757450516 NRROS Synonymous SNV H356H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.15 313022 chr17 12639485 12639485 G A rs1468492 MYOCD Synonymous SNV Q141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.451 313023 chr17 1371393 1371393 C T rs11538161 MYO1C Nonsynonymous SNV D929N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 26.3 313024 chr4 125591728 125591728 T C rs763304884 ANKRD50 Nonsynonymous SNV N723D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 313025 chr17 16347245 16347245 C T rs185998385 LRRC75A Nonsynonymous SNV R231H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.5 313026 chr3 32767052 32767052 A G rs1038174436 CNOT10 Nonsynonymous SNV N325D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 313027 chr3 38136469 38136469 C T rs199675356 DLEC1 Synonymous SNV P673P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.142 313028 chr17 73625179 73625179 G A rs181843598 RECQL5 Nonsynonymous SNV P775L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.379 313029 chr3 38645393 38645393 A T rs199473124 SCN5A Nonsynonymous SNV L567Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 313030 chr4 154669907 154669907 G A rs776559879 RNF175 Nonsynonymous SNV R46W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 313031 chr17 75192312 75192312 A G rs73998660 SEC14L1 Synonymous SNV R212R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.857 313032 chr17 20108819 20108819 A G rs754659222 SPECC1 Nonsynonymous SNV N405S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.01 313033 chr15 102241294 102241294 T A rs150805412 TARS3 Nonsynonymous SNV I439L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 313034 chr6 42996905 42996905 G A rs201561865 RRP36 Nonsynonymous SNV S235N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 313035 chr4 15717374 15717374 T G BST1 Nonsynonymous SNV I219S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 313036 chr17 21318940 21318940 C A rs782252036 KCNJ12, KCNJ18 Nonsynonymous SNV L96M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 313037 chr15 62174808 62174808 A G rs142572498 VPS13C Nonsynonymous SNV L3161S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 313038 chr17 2186995 2186995 C T SMG6 Nonsynonymous SNV R791H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 313039 chr17 25932609 25932609 C T rs2289568 KSR1 Synonymous SNV F588F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 313040 chr4 170987628 170987628 C T rs754848971 AADAT Nonsynonymous SNV V322I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 313041 chr17 78188852 78188852 C T SGSH Nonsynonymous SNV S112N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 313042 chr17 27381615 27381615 G C rs140581256 PIPOX Nonsynonymous SNV G238A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.941 313043 chr15 65676589 65676589 C A IGDCC4 Nonsynonymous SNV G1171W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 313044 chr17 28706343 28706343 C T rs189835367 CPD Synonymous SNV D115D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 313045 chr6 52268531 52268531 C T rs201072442 PAQR8 Nonsynonymous SNV R174W 0 0.003 0 0 0 1 0 0 0 0 0 0 25 313046 chr15 67528778 67528778 A T rs186662479 AAGAB Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.6 313047 chr6 44134522 44134522 G A rs184018090 CAPN11 Nonsynonymous SNV S15N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.256 313048 chr7 18498511 18498511 T C HDAC9 Synonymous SNV C24C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 313049 chr3 49689364 49689364 G A rs534896554 BSN Nonsynonymous SNV R792H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.095 313050 chr4 185687099 185687099 G A rs565295804 ACSL1 Synonymous SNV A401A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.909 313051 chr17 79660598 79660598 C A rs144856336 HGS Nonsynonymous SNV S243Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313052 chr17 80059612 80059612 T G CCDC57 Nonsynonymous SNV K518N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 313053 chr3 50416419 50416419 G A rs201386438 CACNA2D2 Synonymous SNV R422R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 313054 chr17 34072807 34072807 G A GAS2L2 Nonsynonymous SNV A570V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.101 313055 chr3 14803109 14803109 G T rs141708090 C3orf20 Nonsynonymous SNV D706Y 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 313056 chr17 34091206 34091206 G C C17orf50 Nonsynonymous SNV R65P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 313057 chr3 53223946 53223946 C G PRKCD Nonsynonymous SNV P620A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 313058 chr4 2701672 2701672 A G rs115821661 FAM193A Nonsynonymous SNV N967S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 313059 chr4 2701816 2701816 A G rs79969925 FAM193A Nonsynonymous SNV K1015R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 313060 chr17 36484483 36484483 C T GPR179 Nonsynonymous SNV G1657S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.069 313061 chr3 54798331 54798331 G A rs748837593 CACNA2D3 Nonsynonymous SNV D445N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 313062 chr6 54805108 54805108 C T rs553145456 FAM83B Nonsynonymous SNV R447W 0 0 0 1 0 0 0.003 0 0 0 0 0 17.49 313063 chr17 37815324 37815326 GAA - rs370888658 STARD3 E206del 0.001 0 0 0 1 0 0 0 0 0 0 0 313064 chr17 37818557 37818557 G A rs188330170 STARD3 Nonsynonymous SNV R380H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 313065 chr17 37829396 37829396 G C rs192919731 PGAP3 Synonymous SNV L218L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.163 313066 chr17 37872050 37872050 A G rs2230698 ERBB2 Synonymous SNV S457S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.145 313067 chr17 38024839 38024839 C T rs75027016 ZPBP2 Synonymous SNV G30G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.383 313068 chr3 58134047 58134047 G A rs143752722 FLNB Nonsynonymous SNV R1924Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 313069 chr15 81605710 81605710 G A rs143537293 STARD5 Nonsynonymous SNV H177Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 313070 chr4 39482848 39482848 A G rs11937734 LOC401127 0 0 0.014 0 0 0 0 4 0 0 2 0 7.542 313071 chr6 102337733 102337733 A G GRIK2 Nonsynonymous SNV I581M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 313072 chr15 86807970 86807970 C G rs184053635 AGBL1 Nonsynonymous SNV S523C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 313073 chr6 109766142 109766142 T G MICAL1 Nonsynonymous SNV K894Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 313074 chr17 40957766 40957766 T C rs148610228 CNTD1 Synonymous SNV N65N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.46 313075 chr17 41007511 41007511 G A AOC3 Nonsynonymous SNV S103N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 313076 chr17 4436362 4436362 C T rs182141708 SPNS2 Synonymous SNV R342R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 12.12 313077 chr4 57777078 57777078 G A rs61748753 REST Nonsynonymous SNV G92R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 23.4 313078 chr17 42328621 42328621 G A rs2285644 SLC4A1 Nonsynonymous SNV P854L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.46 313079 chr17 42397586 42397586 C T rs150565993 SLC25A39 Synonymous SNV S291S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.836 313080 chr4 68530976 68530976 G A rs777096994 UBA6 Synonymous SNV T276T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 313081 chr17 45360910 45360910 G A rs147782061 ITGB3 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 313082 chr16 1389234 1389234 G A BAIAP3 Nonsynonymous SNV A97T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 313083 chr18 56202302 56202302 G A rs149829322 ALPK2 Nonsynonymous SNV T1706M 0.001 0 0 0 1 0 0 0 0 0 0 0 6.229 313084 chr7 80285955 80285955 C T rs545489204 CD36 Stop gain Q74X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 313085 chr6 144508238 144508238 G T STX11 Nonsynonymous SNV K158N 0 0.003 0 0 0 1 0 0 0 0 0 0 29 313086 chr7 81714151 81714151 C T rs370389203 CACNA2D1 Nonsynonymous SNV E198K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.9 313087 chr17 47921419 47921429 CACTCACCTCC - rs59624095 TAC4 G66Hfs*101 0.001 0 0 0 1 0 0 0 0 0 0 0 313088 chr17 4800046 4800046 G A rs747088046 MINK1 Nonsynonymous SNV D1248N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313089 chr16 16196559 16196559 G A ABCC1 Nonsynonymous SNV G907E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 313090 chr17 48776886 48776886 A G rs142677234 ANKRD40 Nonsynonymous SNV S218P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 313091 chr17 48913352 48913352 G A rs117494161 WFIKKN2 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 313092 chr17 49083528 49083528 G A rs6504692 SPAG9 Synonymous SNV L291L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.91 313093 chr17 49353346 49353346 A G rs8067441 UTP18 Synonymous SNV L277L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 313094 chr16 21739564 21739564 C T rs147901051 OTOA Synonymous SNV D349D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.096 313095 chr4 85611738 85611738 G A rs376202871 WDFY3 Nonsynonymous SNV T3095M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 313096 chr4 169362513 169362513 A G DDX60L Synonymous SNV L423L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.363 313097 chr6 152590364 152590364 C T rs149624155 SYNE1 Nonsynonymous SNV G6140S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 17.39 313098 chr18 77227602 77227602 C T rs200714514 NFATC1 Synonymous SNV T691T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.593 313099 chr17 6329091 6329091 C T rs779454542 AIPL1 Nonsynonymous SNV E219K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 313100 chr5 10390556 10390556 A G rs201511868 MARCHF6 Nonsynonymous SNV I69V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.986 313101 chr6 167343199 167343199 C G rs35517174 RNASET2 Synonymous SNV P216P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 8.957 313102 chr6 170592658 170592658 C T rs756232688 DLL1 Nonsynonymous SNV R570Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 313103 chr17 66872845 66872845 C G rs184510635 ABCA8 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 313104 chr4 186324766 186324766 C A UFSP2 Nonsynonymous SNV G402V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 313105 chr17 66883583 66883583 G A rs571544554 ABCA8 Nonsynonymous SNV A1030V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313106 chr17 67014663 67014663 C T rs201467703 ABCA9 Synonymous SNV E886E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.126 313107 chr4 186380404 186380404 A G CCDC110 Nonsynonymous SNV M409T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 313108 chr17 71452153 71452153 A G rs192668958 SDK2 Nonsynonymous SNV V124A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 313109 chr19 1112414 1112414 G A rs746434948 SBNO2 Synonymous SNV A777A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 313110 chr3 113379076 113379076 G C USF3 Nonsynonymous SNV P485A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.016 313111 chr7 4827804 4827804 G A rs757374186 AP5Z1 Nonsynonymous SNV E336K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 313112 chr5 126776545 126776545 G A rs755400237 MEGF10 Nonsynonymous SNV R783Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.93 313113 chr7 5266958 5266958 C T rs28605777 WIPI2 Synonymous SNV N273N 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 12.61 313114 chr7 5269314 5269314 A G rs34104542 WIPI2 Synonymous SNV T340T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.189 313115 chr3 114070124 114070124 G A ZBTB20 Synonymous SNV V267V 0 0 0 1 0 0 0.003 0 0 0 0 0 3.394 313116 chr16 47117571 47117571 C A rs759371227 NETO2 Nonsynonymous SNV C373F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 313117 chr19 11559732 11559732 C G rs121918520 PRKCSH Stop gain Y420X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 29 313118 chr17 72815981 72815981 C T rs4789101 TMEM104 Synonymous SNV I243I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 313119 chr5 134343659 134343659 G A rs757677421 CATSPER3 Nonsynonymous SNV A169T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 313120 chr17 73058325 73058325 G A rs777864720 KCTD2 Synonymous SNV P249P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 313121 chr4 38830296 38830296 C T TLR6 Nonsynonymous SNV V267I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.398 313122 chr17 73733712 73733712 G T rs143203816 ITGB4 Nonsynonymous SNV C736F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.7 313123 chr7 5541063 5541063 G C rs377010708 FBXL18 Synonymous SNV T279T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.154 313124 chr5 138716073 138716073 C G SLC23A1 Nonsynonymous SNV Q157H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 313125 chr16 55719149 55719149 G A rs11568341 SLC6A2 Nonsynonymous SNV V142I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.971 313126 chr19 14046572 14046572 C T rs140598542 PODNL1 Synonymous SNV E157E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 313127 chr17 74272816 74272816 G C rs151199913 QRICH2 Synonymous SNV G1600G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.025 313128 chr17 74289786 74289786 C T rs147830330 QRICH2 Nonsynonymous SNV R175H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.638 313129 chr19 14779662 14779662 G T ADGRE3 Nonsynonymous SNV L10I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 313130 chr16 57503205 57503205 G A rs141472105 POLR2C Synonymous SNV P129P 0.002 0 0 0 2 0 0 0 0 0 0 0 12.75 313131 chr7 24738696 24738696 A C GSDME Synonymous SNV L316L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 313132 chr17 76464854 76464854 G - DNAH17 L2875Cfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 313133 chr7 22985627 22985627 G A rs757752437 FAM126A Nonsynonymous SNV R383W 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 313134 chr16 66995268 66995268 C T rs749736032 CES3 Synonymous SNV L20L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 313135 chr7 23823266 23823266 G C rs150069675 STK31 Nonsynonymous SNV G688A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 313136 chr17 7750903 7750903 T C rs138395797 KDM6B Nonsynonymous SNV S433P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.09 313137 chr19 17670154 17670154 A G rs202232301 COLGALT1 Nonsynonymous SNV T99A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.367 313138 chr16 706753 706753 G A WDR90 Nonsynonymous SNV E742K 0.001 0 0 0 1 0 0 0 0 0 0 0 12 313139 chr17 79093324 79093324 C T rs183141669 AATK Nonsynonymous SNV A1211T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 313140 chr16 71318581 71318581 T C rs543817025 CMTR2 Nonsynonymous SNV R415G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 313141 chr17 79518204 79518204 T C rs61745255 FAAP100 Nonsynonymous SNV S106G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.107 313142 chr17 79770473 79770473 C T rs13306379 GCGR Synonymous SNV V323V 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 14.04 313143 chr16 72991346 72991346 G A ZFHX3 Nonsynonymous SNV A900V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 313144 chr17 80013663 80013663 C T GPS1 Nonsynonymous SNV L266F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 313145 chr17 8044490 8044490 C T rs200398465 PER1 Nonsynonymous SNV G1257R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.32 313146 chr19 18728998 18728998 C T rs756194015 TMEM59L Nonsynonymous SNV A233V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 313147 chr17 80684442 80684442 G A rs147593094 FN3KRP Synonymous SNV G185G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 313148 chr17 80789806 80789806 G A rs147504960 ZNF750 Synonymous SNV N175N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.916 313149 chr16 77327023 77327023 G A rs1011453043 ADAMTS18 Stop gain R875X 0.001 0 0 0 1 0 0 0 0 0 0 0 45 313150 chr17 80882883 80882883 T C TBCD Synonymous SNV L777L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 313151 chr5 151777623 151777623 A G rs140674729 NMUR2 Nonsynonymous SNV L270P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 313152 chr7 48619856 48619856 C T rs751959837 ABCA13 Synonymous SNV G4797G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.01 313153 chr5 156788577 156788577 C G CYFIP2 Nonsynonymous SNV L978V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 313154 chr5 157214672 157214672 G A rs184795188 CLINT1 Synonymous SNV F638F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.176 313155 chr5 159707587 159707587 G A CCNJL Synonymous SNV N75N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.308 313156 chr19 2251245 2251245 G T AMH Synonymous SNV P324P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.224 313157 chr16 81962225 81962225 C T rs747043855 PLCG2 Synonymous SNV N859N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.98 313158 chr16 49670687 49670687 G A rs151102991 ZNF423 Synonymous SNV T675T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.009 313159 chr16 50344631 50344631 G A rs562841900 ADCY7 Nonsynonymous SNV A732T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 313160 chr18 12254395 12254395 C T rs141822984 CIDEA Nonsynonymous SNV R5W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 313161 chr4 905486 905486 G A rs371874998 GAK Synonymous SNV F119F 0 0 0.007 0 0 0 0 2 0 0 0 0 10.18 313162 chr7 70246599 70246599 A G AUTS2 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 313163 chr7 73020058 73020058 C T rs377597007 MLXIPL Synonymous SNV T287T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.12 313164 chr18 19427030 19427030 C T rs146430244 MIB1 Synonymous SNV L779L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.41 313165 chr7 73731892 73731892 G A rs782141623 CLIP2 Nonsynonymous SNV G6S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 313166 chr16 84514302 84514302 - C rs549073767 MEAK7 Frameshift insertion Q364Afs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 313167 chr7 75189130 75189130 G A rs587630225 HIP1 Synonymous SNV A427A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.17 313168 chr16 57104492 57104492 G A rs770953759 NLRC5 Nonsynonymous SNV M1514I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.331 313169 chr18 21529730 21529730 G A rs61749943 LAMA3 Nonsynonymous SNV S1453N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.686 313170 chr18 21743216 21743216 T C rs143946098 OSBPL1A Nonsynonymous SNV N414S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.851 313171 chr18 2909789 2909789 C T rs547682767 EMILIN2 Synonymous SNV N932N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 313172 chr18 12254918 12254918 C T rs150501016 CIDEA Nonsynonymous SNV P35S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.509 313173 chr18 20815983 20815983 G A rs567251478 CABLES1 Nonsynonymous SNV R437Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313174 chr7 81335035 81335035 C A rs900830869 HGF Nonsynonymous SNV D598Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.6 313175 chr7 91715714 91715714 A G AKAP9 Nonsynonymous SNV Q3066R 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 313176 chr7 92027691 92027691 C T ANKIB1 Nonsynonymous SNV P900S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.57 313177 chr18 34229312 34229312 G A FHOD3 Synonymous SNV T410T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 313178 chr7 94996790 94996790 C T rs17879114 PON3 Synonymous SNV V126V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.575 313179 chr18 44139483 44139483 G A rs141514234 LOXHD1 Synonymous SNV G1048G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.58 313180 chr18 45566669 45566669 C T rs61729533 ZBTB7C Synonymous SNV L270L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.559 313181 chr16 89790101 89790101 C T rs200848897 ZNF276 Synonymous SNV P330P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.476 313182 chr18 3277381 3277381 C T rs149842338 MYL12B Synonymous SNV N105N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 313183 chr18 47367762 47367762 G C rs186428920 MYO5B Nonsynonymous SNV H1558Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22 313184 chr7 100304467 100304468 GA - POP7 E6Afs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 313185 chr7 100459400 100459400 C T rs146144154 SLC12A9 Synonymous SNV H383H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.89 313186 chr5 37605269 37605269 A G rs765105186 WDR70 Nonsynonymous SNV S319G 0 0 0.003 0 0 0 0 1 0 0 0 0 24 313187 chr5 137518041 137518041 C T rs753994532 KIF20A Synonymous SNV S135S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.83 313188 chr16 74678470 74678470 C A RFWD3 Nonsynonymous SNV W41L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313189 chr5 39203087 39203087 A T FYB1 Nonsynonymous SNV D2E 0 0 0.003 0 0 0 0 1 0 0 0 0 23 313190 chr5 137896794 137896794 T C rs542654731 SNORD63 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 313191 chr5 138855995 138855995 G A rs777366618 TMEM173 Nonsynonymous SNV R212W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 313192 chr17 1538649 1538649 G T rs144909941 SCARF1 Synonymous SNV A632A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.478 313193 chr19 40331367 40331367 C T rs145491904 FBL Nonsynonymous SNV R24H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 313194 chr16 82033682 82033682 G A rs542985854 SDR42E1 Synonymous SNV D72D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.12 313195 chr19 4168376 4168376 G A rs750605957 CREB3L3 Nonsynonymous SNV R247H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313196 chr5 140764394 140764394 T G rs182404532 PCDHGA7 Nonsynonymous SNV V643G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.34 313197 chr18 65181049 65181049 T C rs80052930 DSEL Nonsynonymous SNV N266S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.987 313198 chr18 68318053 68318053 C A GTSCR1 0.001 0 0 0 1 0 0 0 0 0 0 0 1.794 313199 chr18 6851058 6851058 C G rs6506448 ARHGAP28 Nonsynonymous SNV T31S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.225 313200 chr18 7037598 7037598 G A rs144105602 LAMA1 Synonymous SNV P572P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.17 313201 chr19 4292841 4292841 C - rs756442311 TMIGD2 A82Pfs*94 0.001 0 0 0 1 0 0 0 0 0 0 0 313202 chr18 72343096 72343096 G A rs770493948 ZNF407 Nonsynonymous SNV A41T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.082 313203 chr18 72346494 72346494 C G rs3764505 ZNF407 Synonymous SNV V1173V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.042 313204 chr18 72998182 72998182 G A rs750380313 TSHZ1 Nonsynonymous SNV D274N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 313205 chr5 148626095 148626095 C T rs148988138 ABLIM3 Nonsynonymous SNV R402C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 313206 chr7 100883147 100883147 G C rs757763166 FIS1 Synonymous SNV A133A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.42 313207 chr18 67794966 67794966 G C RTTN Nonsynonymous SNV A140G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.927 313208 chr19 44770465 44770465 C T rs45559435 ZNF233 Synonymous SNV L44L 0.002 0 0 0 2 0 0 0 0 0 0 0 8.715 313209 chr19 10291181 10291181 T C rs16999593 DNMT1 Nonsynonymous SNV H97R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.901 313210 chr7 117424484 117424484 A C rs767674226 CTTNBP2 Nonsynonymous SNV L680W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 313211 chr7 123672655 123672655 G T TMEM229A Nonsynonymous SNV L135I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 313212 chr17 31082535 31082535 T G MYO1D Nonsynonymous SNV K481T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 313213 chr7 129668798 129668798 G A ZC3HC1 Nonsynonymous SNV L189F 0 0.003 0 0 0 1 0 0 0 0 0 0 31 313214 chr17 33806411 33806411 C T rs114930489 SLFN12L Nonsynonymous SNV S273N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 313215 chr19 10221413 10221413 G A rs970928703 PPAN, PPAN-P2RY11 Nonsynonymous SNV G305S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.423 313216 chr8 81399765 81399765 G A rs773573689 ZBTB10 Synonymous SNV K240K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.162 313217 chr19 12155321 12155321 G A rs533783513 ZNF878 Stop gain R299X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313218 chr19 12430331 12430331 C T ZNF563 Nonsynonymous SNV E170K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 313219 chr5 96329557 96329557 T C rs758290092 LNPEP Nonsynonymous SNV M430T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 313220 chr19 12763007 12763007 G A rs75029862 MAN2B1 Nonsynonymous SNV P669L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.6 313221 chr5 173317642 173317642 C T rs757880567 CPEB4 Synonymous SNV G302G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 313222 chr7 136935986 136935986 T C PTN Nonsynonymous SNV K148E 0 0.003 0 0 0 1 0 0 0 0 0 0 25 313223 chr19 14499553 14499553 A G rs764738376 ADGRE5 Nonsynonymous SNV N38S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 313224 chr19 14568859 14568859 G T PKN1 Synonymous SNV V394V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 313225 chr19 14574897 14574897 C A rs34309238 PKN1 Nonsynonymous SNV L555I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 17.07 313226 chr19 11210922 11210922 G A rs776421777 LDLR Nonsynonymous SNV E31K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 313227 chr6 110567313 110567313 C T rs201883192 METTL24 Nonsynonymous SNV V116I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 313228 chr19 48598811 48598811 C T rs368409006 PLA2G4C Nonsynonymous SNV A217T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 313229 chr19 15121660 15121660 C G rs116867154 CCDC105 Nonsynonymous SNV A8G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 313230 chr7 141952132 141952132 G A rs780869245 PRSS58 Nonsynonymous SNV A212V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 313231 chr5 191794 191794 G A rs747919302 LRRC14B Synonymous SNV A47A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.418 313232 chr19 1465986 1465986 C T APC2 Nonsynonymous SNV R895C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 313233 chr19 17000465 17000465 C T rs544470469 F2RL3 Nonsynonymous SNV P64L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 313234 chr19 50386085 50386085 G T rs374395158 TBC1D17 Nonsynonymous SNV R255L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.6 313235 chr19 1506611 1506611 G T rs141228013 ADAMTSL5 Synonymous SNV L364L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.016 313236 chr19 17160893 17160893 C T rs12460560 HAUS8 Synonymous SNV A340A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 313237 chr19 17394065 17394065 G A rs111235808 ANKLE1 Synonymous SNV T153T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.891 313238 chr6 144508130 144508130 G C rs747360299 STX11 Synonymous SNV S122S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 313239 chr6 147067206 147067206 G A rs142245254 ADGB Nonsynonymous SNV R1109Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 313240 chr5 45696151 45696151 G A rs760319799 HCN1 Synonymous SNV D15D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.785 313241 chr19 18271764 18271764 C T rs143873873 PIK3R2 Nonsynonymous SNV P151S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.626 313242 chr19 16060278 16060278 C G rs748492620 OR10H4 Stop gain S154X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 313243 chr17 40042392 40042392 T C rs148168367 ACLY Nonsynonymous SNV Y726C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.8 313244 chr19 18288004 18288004 A G rs4808756 IFI30 Nonsynonymous SNV M180V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 313245 chr7 157333450 157333450 C T PTPRN2 Synonymous SNV V964V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.86 313246 chr19 17062908 17062908 G A rs777147887 CPAMD8 Synonymous SNV I793I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 313247 chr19 52468527 52468527 T G rs4988335 ZNF350 Nonsynonymous SNV Q393H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 313248 chr19 19414177 19414177 G A rs1978144 SUGP1 Nonsynonymous SNV S248L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 313249 chr17 42882258 42882258 C T rs61754620 GJC1 Nonsynonymous SNV A310T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 313250 chr5 61668355 61668355 C T rs200042213 KIF2A Synonymous SNV D579D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.55 313251 chr8 145583302 145583302 C T SLC52A2 Synonymous SNV Y50Y 0.001 0 0 0 1 0 0 0 0 0 0 0 2.908 313252 chr19 53391486 53391486 A G rs28782815 ZNF320 Synonymous SNV D12D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 313253 chr6 162864462 162864462 G A rs148302761 PRKN Synonymous SNV V17V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 313254 chr19 2759287 2759287 C T rs186892404 SGTA Synonymous SNV S235S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.73 313255 chr8 11666056 11666056 C T rs965313670 FDFT1 Synonymous SNV A10A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.41 313256 chr19 327900 327900 G A rs34070502 MIER2 Synonymous SNV D75D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.329 313257 chr8 17503561 17503561 C T MTUS1 Nonsynonymous SNV S1174N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.24 313258 chr19 33321587 33321587 G A rs80283711 SLC7A9 Nonsynonymous SNV P468L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.4 313259 chr17 48615541 48615541 C T rs769165986 EPN3 Nonsynonymous SNV R222C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 313260 chr19 33697618 33697618 T C rs17848213 LRP3 Synonymous SNV F568F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.201 313261 chr6 170858121 170858121 G A rs745895236 PSMB1 Nonsynonymous SNV T65M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 313262 chr8 20107295 20107295 A G rs748832068 LZTS1 Synonymous SNV L577L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 313263 chr4 154197312 154197312 G A rs780171741 TRIM2 Synonymous SNV P161P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 3.794 313264 chr19 36000855 36000855 C G rs140369650 DMKN Nonsynonymous SNV K45N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 313265 chr19 55677776 55677776 G A rs150362958 DNAAF3 Synonymous SNV T49T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.08 313266 chr6 25610306 25610306 G A rs765060584 CARMIL1 Synonymous SNV P1286P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 313267 chr17 56616560 56616560 G T SEPTIN4 Synonymous SNV A6A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.472 313268 chr9 33366681 33366681 C T rs752811815 NFX1 Nonsynonymous SNV R1033W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 313269 chr19 36360597 36360597 T A rs964107663 APLP1 Nonsynonymous SNV L59Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 313270 chr9 34568926 34568926 - GCG rs774698156 CNTFR A18_V19insA 0.001 0 0 0 1 0 0 0 0 0 0 0 313271 chr6 109621496 109621496 C T rs753276082 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.036 313272 chr9 36170820 36170820 C T rs139241361 CCIN Nonsynonymous SNV R441W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 313273 chr17 6683380 6683380 G A rs776729788 FBXO39 Nonsynonymous SNV G65R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 313274 chr6 118228930 118228930 C G rs759991380 SLC35F1 Nonsynonymous SNV P14R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 313275 chr8 38677980 38677980 C G TACC1 Synonymous SNV S211S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.04 313276 chr19 36103776 36103776 C G HAUS5 Nonsynonymous SNV P27R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.698 313277 chr19 57953362 57953362 C T rs199969699 ZNF749 Nonsynonymous SNV A42V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 313278 chr6 33556747 33556747 G A rs532742446 GGNBP1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 313279 chr19 58437964 58437964 G A rs200035509 ZNF418 Nonsynonymous SNV R444W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 313280 chr19 39299543 39299543 G A rs145088175 LGALS4 Synonymous SNV V60V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.96 313281 chr19 58772883 58772883 G A rs747392230 ZNF544 Nonsynonymous SNV R276K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.446 313282 chr6 139135709 139135709 - T rs564571320 ECT2L Frameshift insertion L52Ffs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 313283 chr19 40587790 40587790 C T rs150224403 ZNF780A Synonymous SNV T56T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 313284 chr6 39159064 39159064 C T rs781338295 KCNK5 Nonsynonymous SNV V368I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.63 313285 chr19 648399 648399 G A rs146932907 RNF126 Synonymous SNV D226D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.285 313286 chr19 6534889 6534889 C T rs780367014 TNFSF9 Nonsynonymous SNV R193W 0.002 0 0 0 2 0 0 0 0 0 0 0 25 313287 chr19 39406387 39406387 G A rs151125003 SARS2 Synonymous SNV D472D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.166 313288 chr19 39575942 39575942 C T ACP7 Synonymous SNV Y11Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.646 313289 chr8 97797486 97797486 G A CPQ Nonsynonymous SNV V121M 0 0 0 1 0 0 0.003 0 0 0 0 0 10.62 313290 chr9 101830911 101830911 A G rs41313325 COL15A1 Nonsynonymous SNV I1304M 0.003 0 0 0 3 0 0 0 0 0 0 0 22.5 313291 chr9 113086230 113086230 A G rs1043020871 TXNDC8 Nonsynonymous SNV W83R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.774 313292 chr8 121561162 121561162 C T rs147938962 SNTB1 Synonymous SNV Q391Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.905 313293 chr19 881602 881602 G A rs142515269 MED16 Synonymous SNV T366T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 313294 chr19 44635206 44635206 C A ZNF225 Nonsynonymous SNV P147T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.486 313295 chr17 76433888 76433888 C T DNAH17 Synonymous SNV T3956T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.378 313296 chr8 133854997 133854997 T C rs199682032 PHF20L1 Synonymous SNV S849S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.76 313297 chr19 45206676 45206676 G T rs186687142 CEACAM16 Nonsynonymous SNV S32I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.58 313298 chr19 45206677 45206677 C T rs191552868 CEACAM16 Synonymous SNV S32S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.64 313299 chr19 45381619 45381619 - GGAGGAGCAGGA rs780028480 NECTIN2 A401_S402insGGGA 0.001 0 0 0 1 0 0 0 0 0 0 0 313300 chr19 4550842 4550842 G A SEMA6B Nonsynonymous SNV P364S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 313301 chr9 119976947 119976947 C T rs147080682 ASTN2 Synonymous SNV K235K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.28 313302 chr19 47225265 47225265 G A rs77372167 STRN4 Synonymous SNV N697N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.595 313303 chr6 78172314 78172314 A G rs201257482 HTR1B Synonymous SNV S269S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.021 313304 chr19 4544372 4544372 C T SEMA6B Synonymous SNV K636K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 313305 chr8 144887285 144887285 A G rs200182640 SCRIB Synonymous SNV D889D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.259 313306 chr19 48845944 48845944 G A rs138056528 TMEM143 Nonsynonymous SNV T173M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 313307 chr19 48967800 48967800 G A rs138120407 KCNJ14 Synonymous SNV P359P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 313308 chr19 49129393 49129393 C T rs45603032 SPHK2 Synonymous SNV A59A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 313309 chr17 79683877 79683877 C T rs199587693 SLC25A10 Nonsynonymous SNV A152V 0.002 0 0 0 2 0 0 0 0 0 0 0 18.85 313310 chr19 48047990 48047990 - GCGGCCACGGCCCCTGCA ZNF541 P598_Q599insLQGPWP 0.001 0 0 0 1 0 0 0 0 0 0 0 313311 chr7 100417219 100417219 G A rs369885905 EPHB4 Synonymous SNV P419P 0 0 0.007 0 0 0 0 2 0 0 0 0 13 313312 chr8 145689667 145689667 - A CYHR1 Frameshift insertion W141Lfs*147 0 0.003 0 0 0 1 0 0 0 0 0 0 313313 chr19 507545 507545 G A rs370127539 TPGS1 Synonymous SNV P13P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.856 313314 chr1 111494110 111494110 A C rs148430711 LRIF1 Nonsynonymous SNV L466V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.21 313315 chr9 136412274 136412274 A G rs761596656 ADAMTSL2 Nonsynonymous SNV Y293C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 313316 chr5 96077281 96077281 G A rs141604131 CAST Synonymous SNV E228E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 313317 chr1 114454467 114454467 C T rs202133913 DCLRE1B Nonsynonymous SNV S292F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 313318 chr9 7128220 7128220 T A KDM4C Nonsynonymous SNV F667Y 0 0.003 0 0 0 1 0 0 0 0 0 0 14.76 313319 chr7 100553017 100553017 C T rs761244330 MUC3A Synonymous SNV S1164S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.281 313320 chr5 101572564 101572564 A G rs144705663 SLCO4C1 X725R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.2 313321 chr5 101735369 101735369 G A rs149826491 SLCO6A1 Synonymous SNV P315P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.894 313322 chr18 28989722 28989722 A G DSG4 Nonsynonymous SNV I696M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.71 313323 chr9 15199891 15199891 T C TTC39B Synonymous SNV G195G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.983 313324 chr1 11731448 11731448 G A rs566510540 FBXO6 Nonsynonymous SNV E138K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 313325 chr9 24545057 24545057 C T rs993795595 IZUMO3 Nonsynonymous SNV V102I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 313326 chr6 46726491 46726491 G A rs765382422 ANKRD66 Nonsynonymous SNV A197T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.603 313327 chr1 119936422 119936422 G A rs770457915 HAO2 Nonsynonymous SNV A339T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 313328 chr1 12058934 12058934 C T rs773159585 MFN2 Nonsynonymous SNV T236M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 32 313329 chr1 12520303 12520303 G T VPS13D Nonsynonymous SNV V4147L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 313330 chr9 35558316 35558316 C T RUSC2 Synonymous SNV I183I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 313331 chr7 120764480 120764480 T C rs372184352 CPED1 Synonymous SNV A338A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.362 313332 chr5 130778223 130778223 C T RAPGEF6 Synonymous SNV K1143K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.46 313333 chr7 122338491 122338491 G A rs147690048 RNF133 Nonsynonymous SNV T161M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 313334 chr7 123269462 123269462 A T ASB15 Nonsynonymous SNV T472S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 313335 chr1 149939279 149939279 G A rs781882137 OTUD7B Nonsynonymous SNV R148C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313336 chr18 29848727 29848727 C T rs3891458 GAREM1 Nonsynonymous SNV V580I 0.003 0 0 0 3 0 0 0 0 0 0 0 7.959 313337 chr9 78848445 78848445 T C PCSK5 Synonymous SNV H933H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.469 313338 chr18 61569047 61569047 C T rs541565805 SERPINB2 Synonymous SNV Y203Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 313339 chr18 61654266 61654266 C G rs146637081 SERPINB8 Nonsynonymous SNV D113E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.102 313340 chr19 54759219 54759219 T C rs758427793 LILRB5 Synonymous SNV R194R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 313341 chr19 54822691 54822691 C T rs148309852 LILRA5 Synonymous SNV P223P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 313342 chr19 54965782 54965782 G T LENG8 Synonymous SNV T200T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.303 313343 chr9 90501345 90501345 A C SPATA31E1 Nonsynonymous SNV Q648P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.321 313344 chr6 88046835 88046835 G A rs140990223 SMIM8 Nonsynonymous SNV R29H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 313345 chr19 55174424 55174424 T C LILRB4 Nonsynonymous SNV F21S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.625 313346 chr9 95875345 95875345 C T rs370569606 CARD19 Nonsynonymous SNV P102L 0 0.003 0 0 0 1 0 0 0 0 0 0 34 313347 chr1 155233054 155233054 C T rs753200761 CLK2 Synonymous SNV E257E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 313348 chr9 104170269 104170269 T G rs753746192 ZNF189 Nonsynonymous SNV I59M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.089 313349 chr9 106862484 106862484 G A rs199560539 SMC2 Synonymous SNV T197T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.49 313350 chr7 149482619 149482619 G C SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 2.69 313351 chr9 109687537 109687537 C T ZNF462 Synonymous SNV T448T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.68 313352 chr19 57325979 57325979 G A rs146936570 PEG3 Synonymous SNV T1122T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.6 313353 chr9 115652311 115652311 C G rs142856570 SLC46A2 Synonymous SNV S217S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.143 313354 chr7 1533457 1533457 G A rs369936361 INTS1 Synonymous SNV L667L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.2 313355 chr1 159863011 159863011 C T rs143593292 CFAP45 Nonsynonymous SNV V30M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.083 313356 chr19 57988645 57988645 C T rs117361801 ZNF772 Synonymous SNV Q11Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 313357 chr5 153174193 153174193 C G GRIA1 Nonsynonymous SNV N681K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 313358 chr1 160465958 160465958 T C rs754697018 SLAMF6 Nonsynonymous SNV Y92C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 313359 chr19 5866983 5866983 A G FUT5 Nonsynonymous SNV S252P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 313360 chr7 20721130 20721130 G A rs139741319 ABCB5 Synonymous SNV A125A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.035 313361 chr9 124440983 124440983 C T rs373206873 DAB2IP Nonsynonymous SNV R23W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 313362 chr19 1482080 1482080 C A rs78359732 PCSK4 Nonsynonymous SNV C649F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 313363 chr19 5905034 5905034 G T rs4807056 VMAC Nonsynonymous SNV A45S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.983 313364 chr19 58982297 58982297 G A ZNF324 Synonymous SNV R146R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.221 313365 chr7 25175651 25175651 A G rs149543178 C7orf31 Synonymous SNV N571N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.077 313366 chr1 165738054 165738054 A G rs62622803 TMCO1 Nonsynonymous SNV F30L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.26 313367 chr7 26576576 26576576 A G rs185554044 KIAA0087 0 0 0.003 0 0 0 0 1 0 0 0 0 1.111 313368 chr19 7076418 7076418 C A rs2303796 ZNF557 Synonymous SNV A49A 0.002 0 0 0 2 0 0 0 1 0 0 0 14.74 313369 chr19 1632083 1632083 C T rs367960890 TCF3 Synonymous SNV S84S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 15.72 313370 chr7 30491916 30491916 G A rs368288458 NOD1 Nonsynonymous SNV R373C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.65 313371 chr19 757634 757634 G T rs147994311 MISP Nonsynonymous SNV A230S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.577 313372 chr19 7697712 7697712 C A rs189368660 PCP2 Nonsynonymous SNV G3V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.8 313373 chr19 16908627 16908627 T C rs553266612 NWD1 Nonsynonymous SNV M924T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 313374 chr19 7963619 7963619 A G rs372250793 LRRC8E Nonsynonymous SNV Q71R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 313375 chr9 130507310 130507310 G A rs948789968 SH2D3C Nonsynonymous SNV R287C 0 0.003 0 0 0 1 0 0 0 0 0 0 30 313376 chr19 17384733 17384733 A G rs756119940 BABAM1 Nonsynonymous SNV N122S 0.001 0 0 0 1 0 0 0 0 0 0 0 22 313377 chr7 32609679 32609679 C T rs749269025 AVL9 Synonymous SNV L421L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.65 313378 chr7 131883268 131883268 A G rs911290108 PLXNA4 Nonsynonymous SNV V905A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 313379 chr19 13996808 13996808 C T rs142127125 C19orf57 Nonsynonymous SNV G459R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 313380 chr19 8808264 8808264 G C rs374419357 ACTL9 Nonsynonymous SNV S263C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.99 313381 chr19 8993484 8993484 T G MUC16 Nonsynonymous SNV T13869P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 313382 chr19 8430917 8430917 A G rs774532632 ANGPTL4 Nonsynonymous SNV Q133R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 313383 chr9 133957489 133957489 C G LAMC3 Nonsynonymous SNV S1324C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 313384 chr1 179503940 179503940 A G rs764003865 AXDND1 Nonsynonymous SNV I958M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 313385 chr1 179544874 179544874 C T rs769791509 NPHS2 Synonymous SNV G42G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.39 313386 chr19 18778945 18778945 C T rs887424959 KLHL26 Synonymous SNV H275H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 313387 chr1 180012213 180012213 A G rs35589931 CEP350 Nonsynonymous SNV H1462R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.39 313388 chr19 19654794 19654794 G T rs756848097 CILP2 Synonymous SNV V480V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 313389 chr1 18149559 18149559 C T rs750983259 ACTL8 Nonsynonymous SNV T19M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 313390 chr19 21606577 21606577 T C rs151077768 ZNF493 Synonymous SNV T244T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.433 313391 chr9 139258799 139258799 C T CARD9 Synonymous SNV R522R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.758 313392 chr19 9065434 9065434 C G MUC16 Nonsynonymous SNV E7338Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 313393 chr9 139312532 139312532 A G rs201495107 PMPCA Nonsynonymous SNV M190V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.915 313394 chr7 6509340 6509340 G C rs775611010 KDELR2 Nonsynonymous SNV L80V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 313395 chr19 3013769 3013769 C A rs778109635 TLE2 Nonsynonymous SNV K135N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 313396 chr7 73008264 73008264 G A rs149935648 MLXIPL Synonymous SNV T830T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.537 313397 chr10 101731817 101731817 G A rs116593720 DNMBP Nonsynonymous SNV P22L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313398 chr1 192628645 192628645 A G rs772348616 RGS13 Nonsynonymous SNV S158G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 313399 chr19 33457374 33457374 T - CEP89 0.001 0 0 0 1 0 0 0 0 0 0 0 313400 chr7 75399101 75399101 A G rs11465348 CCL26 Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.266 313401 chr1 101197012 101197012 A G rs34199378 VCAM1 Nonsynonymous SNV H396R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.599 313402 chr1 101377789 101377789 G A rs145252614 SLC30A7 Nonsynonymous SNV G169D 0.002 0 0 0 2 0 0 0 1 0 0 0 20.2 313403 chr7 76026920 76026920 G A rs139299212 SSC4D Synonymous SNV G261G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 313404 chr7 7634649 7634649 G A MIOS Synonymous SNV Q694Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.107 313405 chr1 104616189 104616189 A G rs184465108 LOC100129138 0.001 0 0 0 1 0 0 0 0 0 0 0 3.206 313406 chr7 81359091 81359091 G T HGF Nonsynonymous SNV D290E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.494 313407 chr1 109538263 109538263 G A rs141474361 WDR47 Nonsynonymous SNV R552C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 313408 chr10 105942134 105942134 G C CFAP43 Nonsynonymous SNV S760C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.503 313409 chr10 112038948 112038948 C T rs61753063 MXI1 Synonymous SNV L37L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 313410 chr1 110146103 110146103 C T rs368195234 GNAT2 Nonsynonymous SNV R313Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 313411 chr1 113010178 113010178 G A rs142980721 WNT2B Nonsynonymous SNV V7M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.219 313412 chr8 102582585 102582585 G T rs576429179 GRHL2 Nonsynonymous SNV V217F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 313413 chr1 114372630 114372630 G C rs183145687 PTPN22 Nonsynonymous SNV S637C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.2 313414 chr10 15821131 15821131 C T rs199562837 MINDY3 Nonsynonymous SNV V227I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 313415 chr19 38986945 38986945 C T rs374630822 RYR1 Synonymous SNV N2213N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.39 313416 chr8 105463544 105463544 C T rs368802826 DPYS Nonsynonymous SNV R118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 313417 chr7 44147466 44147466 C T rs368747482 AEBP1 Synonymous SNV P266P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 313418 chr10 21102906 21102906 T C rs745738658 NEBL Nonsynonymous SNV M770V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 19.53 313419 chr1 11839100 11839100 G A rs980431470 C1orf167 Nonsynonymous SNV G872S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.12 313420 chr8 122626780 122626780 A G HAS2 Synonymous SNV L410L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.72 313421 chr7 48314079 48314079 T G ABCA13 Nonsynonymous SNV F1606V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.377 313422 chr8 124547004 124547004 T C rs6988591 FBXO32 Nonsynonymous SNV N56S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 313423 chr1 1246741 1246741 G A PUSL1 Synonymous SNV Q321Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 313424 chr1 144917595 144917595 T C rs150716992 PDE4DIP Synonymous SNV E666E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.611 313425 chr10 33474632 33474632 G A rs138261778 NRP1 Synonymous SNV I779I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 313426 chr1 215987094 215987094 G A rs6660707 USH2A Synonymous SNV Y3241Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.04 313427 chr19 42485723 42485723 G A rs782325595 ATP1A3 Synonymous SNV S467S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.38 313428 chr1 145539791 145539791 C T rs148917653 ITGA10 Stop gain R932X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 313429 chr19 42791012 42791012 G A rs779223688 CIC Nonsynonymous SNV V53M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 313430 chr1 150526565 150526565 G A rs75477151 ADAMTSL4 Synonymous SNV G366G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.24 313431 chr1 151498138 151498138 C G rs74665256 CGN Synonymous SNV A545A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 313432 chr8 143746124 143746124 G A rs587652544 JRK Nonsynonymous SNV P452S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.219 313433 chr8 143746406 143746406 T C JRK Nonsynonymous SNV N358D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.94 313434 chr10 50678364 50678364 G A rs146493285 ERCC6 Synonymous SNV D1214D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.78 313435 chr19 44740155 44740155 G A rs200305172 ZNF227 Synonymous SNV T445T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.185 313436 chr1 153190700 153190700 C A PRR9 Nonsynonymous SNV A27E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 313437 chr10 69666573 69666573 A G SIRT1 Synonymous SNV P20P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.452 313438 chr1 154901512 154901512 G A rs972864128 PMVK Synonymous SNV S86S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.15 313439 chr10 70531121 70531121 T C rs768100494 CCAR1 Synonymous SNV D804D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.314 313440 chr1 228430902 228430902 C T rs769365364 OBSCN Nonsynonymous SNV A983V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 313441 chr10 74183081 74183081 C A MICU1 Nonsynonymous SNV G130C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 313442 chr19 46974190 46974190 C T rs200401445 PNMA8A Nonsynonymous SNV G35R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 313443 chr19 47424846 47424846 C G rs768208332 ARHGAP35 Nonsynonymous SNV R972G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 313444 chr8 145735094 145735094 G A rs768389463 MFSD3 Synonymous SNV L126L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.467 313445 chr1 158261888 158261888 C T rs115959450 CD1C Stop gain Q115X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313446 chr1 158435927 158435927 C A rs16840204 OR10K1 Synonymous SNV S192S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 313447 chr1 158450142 158450142 C T rs117155388 OR10R2 Stop gain Q159X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 313448 chr19 48239646 48239646 C T rs199706388 EHD2 Synonymous SNV S312S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 313449 chr10 88476324 88476324 T A rs139709036 LDB3 Nonsynonymous SNV V428E 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.6 313450 chr8 17731971 17731971 G A FGL1 Nonsynonymous SNV L102F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 313451 chr10 89474776 89474776 A G PAPSS2 Nonsynonymous SNV H225R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.888 313452 chr1 15986481 15986481 A G rs546387056 RSC1A1 Nonsynonymous SNV I40V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 313453 chr1 16042740 16042740 C T PLEKHM2 Synonymous SNV S23S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 313454 chr8 22140662 22140662 C T PIWIL2 Nonsynonymous SNV P181S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.668 313455 chr1 162353018 162353018 A G C1orf226 Nonsynonymous SNV I122V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 313456 chr1 162825078 162825078 C G rs772139595 CCDC190 Nonsynonymous SNV G129A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.803 313457 chr10 96824662 96824662 G A CYP2C8 Synonymous SNV C77C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.964 313458 chr19 49643016 49643016 G A rs765944803 PPFIA3 Nonsynonymous SNV R723H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 313459 chr6 138752323 138752323 C T rs569807469 NHSL1 Synonymous SNV P1057P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.23 313460 chr6 142725098 142725098 A G ADGRG6 Synonymous SNV E677E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.249 313461 chr10 101544481 101544481 C T rs200595851 ABCC2 Synonymous SNV H50H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.12 313462 chr6 148841248 148841248 G A rs776146118 SASH1 Synonymous SNV G237G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.01 313463 chr1 247694973 247694973 C T rs148813172 OR2C3 Nonsynonymous SNV V281I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.449 313464 chr6 151259845 151259845 G A rs541518987 MTHFD1L Synonymous SNV A469A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.47 313465 chr8 37691254 37691254 G A rs781696424 ADGRA2 Nonsynonymous SNV V449M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 313466 chr8 38385875 38385875 A G rs146703857 C8orf86 Nonsynonymous SNV L94P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 313467 chr1 175331822 175331822 C G rs61731107 TNR Nonsynonymous SNV R611P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.2 313468 chr1 17559415 17559415 C T rs139052576 PADI1 Synonymous SNV G421G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 313469 chr1 17567149 17567149 G A rs140750531 PADI1 Nonsynonymous SNV R551H 0.002 0 0 0 2 0 0 0 1 0 0 0 31 313470 chr8 144873423 144873423 G A rs150660931 SCRIB Synonymous SNV P1601P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.536 313471 chr10 108431104 108431104 C T SORCS1 Nonsynonymous SNV A694T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 313472 chr1 179504070 179504070 G T rs144482791 AXDND1 Stop gain E1002X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 313473 chr1 179965693 179965693 T C CEP350 Nonsynonymous SNV I134T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.541 313474 chr1 248569996 248569996 T G OR2T1 Nonsynonymous SNV V234G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 313475 chr8 67679866 67679866 G A rs745444446 PTTG3P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 313476 chr1 186113348 186113348 C T rs3737942 HMCN1 Synonymous SNV S4656S 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 9.929 313477 chr10 124740032 124740032 G A rs373258080 PSTK Nonsynonymous SNV D13N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 313478 chr8 8175871 8175871 G T rs201268497 PRAG1 Synonymous SNV T1338T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.859 313479 chr1 27742593 27742593 G A rs187587794 WASF2 Synonymous SNV D141D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.836 313480 chr8 90926942 90926942 C T OSGIN2 Nonsynonymous SNV L166F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 313481 chr19 53669576 53669576 G A rs371699472 ZNF665 Nonsynonymous SNV T56M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.805 313482 chr8 96281336 96281336 C T rs768222931 C8orf37 Nonsynonymous SNV E28K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 313483 chr1 200969055 200969055 G A rs865942025 KIF21B Stop gain Q575X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 313484 chr8 23167415 23167415 T C rs770806989 LOXL2 Nonsynonymous SNV D549G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 313485 chr1 33778468 33778468 C T rs374266228 A3GALT2 Nonsynonymous SNV R16Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 313486 chr8 27279881 27279881 C T rs112665817 PTK2B Synonymous SNV L178L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.44 313487 chr1 36499899 36499899 C T rs377736680 AGO3 Synonymous SNV L338L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 313488 chr1 36642349 36642349 A G rs779040593 MAP7D1 Nonsynonymous SNV S392G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 313489 chr19 55703059 55703059 C T rs749883971 PTPRH Nonsynonymous SNV G592S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 313490 chr11 205641 205641 T C rs926824881 BET1L Synonymous SNV A46A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.525 313491 chr9 113231297 113231297 C T rs201593345 SVEP1 Nonsynonymous SNV G1028E 0 0 0.003 0 0 0 0 1 0 0 0 0 32 313492 chr8 408398 408398 C A rs995958431 FBXO25 Nonsynonymous SNV D163E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 313493 chr19 56196938 56196938 C T rs376123170 EPN1 Synonymous SNV R135R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 313494 chr1 41296926 41296926 G A rs371301199 KCNQ4 Nonsynonymous SNV R434H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313495 chr8 42751381 42751381 C T rs929593033 MIR4469 0 0 0.003 0 0 0 0 1 0 0 0 0 9.956 313496 chr1 43021953 43021953 A G rs372817211 CCDC30 Synonymous SNV K184K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 313497 chr1 207133833 207133833 G C rs750242459 FCAMR Nonsynonymous SNV A463G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.306 313498 chr1 207135725 207135725 G C rs924090996 FCAMR Nonsynonymous SNV T162S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 313499 chr19 56539152 56539152 G A rs764760079 NLRP5 Nonsynonymous SNV R518H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.014 313500 chr9 123215872 123215872 G C rs112600265 CDK5RAP2 Nonsynonymous SNV F885L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.015 313501 chr1 206905952 206905952 C T rs372815549 MAPKAPK2 Synonymous SNV R364R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.17 313502 chr1 207133830 207133830 G A rs140563378 FCAMR Nonsynonymous SNV T464I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 313503 chr1 45793530 45793530 C A HPDL Nonsynonymous SNV A237E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.284 313504 chr1 46739067 46739067 T A rs374681929 RAD54L Nonsynonymous SNV D292E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 313505 chr8 81905461 81905461 A C PAG1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 313506 chr1 220178605 220178605 G A rs1008165582 EPRS1 Nonsynonymous SNV P683L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313507 chr11 1086051 1086051 C T rs72655318 MUC2 Nonsynonymous SNV T964M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 11.66 313508 chr19 621311 621311 A G rs773334163 POLRMT Nonsynonymous SNV L796P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 313509 chr1 54059905 54059905 C T rs761232530 GLIS1 Nonsynonymous SNV R224H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313510 chr11 1093503 1093503 T C rs760287816 MUC2 Synonymous SNV T1774T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.096 313511 chr1 223285508 223285508 G A rs767519752 TLR5 Nonsynonymous SNV S289L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 313512 chr1 223536703 223536705 TGC - rs143929528 SUSD4 Q22del 0.001 0 0.003 0 1 0 0 1 0 0 0 0 313513 chr9 103046761 103046761 C T rs369319343 INVS Synonymous SNV N322N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.09 313514 chr9 133729540 133729540 G A rs143047485 ABL1 Nonsynonymous SNV G57R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 313515 chr7 48269463 48269463 A G rs201583707 ABCA13 Nonsynonymous SNV N225S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.448 313516 chr9 135172292 135172292 G A SETX Synonymous SNV L1977L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.311 313517 chr11 3249837 3249837 C T rs760513724 MRGPRE Nonsynonymous SNV V65M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 313518 chr1 228462484 228462484 G A rs376901125 OBSCN Synonymous SNV A1965A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.07 313519 chr19 8188416 8188416 G A rs745432974 FBN3 Nonsynonymous SNV T1005M 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 313520 chr1 228503797 228503797 C A OBSCN Nonsynonymous SNV T4421K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313521 chr11 4870256 4870256 G A rs765491390 OR51S1 Synonymous SNV P61P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.156 313522 chr11 4928860 4928860 C T rs556390974 OR51A7 Synonymous SNV F87F 0 0.003 0 0 0 1 0 0 0 0 0 0 10.23 313523 chr19 8670517 8670517 G A rs111234410 ADAMTS10 Nonsynonymous SNV R27W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 313524 chr1 230979243 230979243 G A rs372398212 C1orf198 Nonsynonymous SNV R132C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 313525 chr7 73790967 73790967 G T CLIP2 Nonsynonymous SNV A711S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.3 313526 chr7 77326128 77326128 C A RSBN1L Synonymous SNV S114S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 313527 chr9 139836031 139836031 A G rs769804182 FBXW5 Nonsynonymous SNV I401T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 313528 chr1 229434749 229434749 G A rs144029461 RAB4A Synonymous SNV A52A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 313529 chr1 230798903 230798903 T C rs766695806 COG2 Nonsynonymous SNV V106A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 313530 chr9 125273324 125273324 C A rs760385807 OR1J2 Nonsynonymous SNV L82M 0 0 0.007 0 0 0 0 2 0 0 0 0 14.58 313531 chr1 235345151 235345151 T C ARID4B Nonsynonymous SNV E942G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 313532 chr9 140918239 140918239 A G CACNA1B Nonsynonymous SNV K1015R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.95 313533 chr1 2409970 2409970 C T rs752018206 PLCH2 Synonymous SNV G33G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 313534 chr1 24172259 24172259 G A rs750761317 FUCA1 Synonymous SNV P449P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.606 313535 chr9 126247899 126247900 GT - rs777489773 MIR7150 0 0 0.003 0 0 0 0 1 0 0 0 0 313536 chr1 101004961 101004961 G A rs777942820 GPR88 Nonsynonymous SNV A147T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.595 313537 chr9 19550241 19550241 G T SLC24A2 Nonsynonymous SNV P441H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 313538 chr1 245027103 245027103 C T rs139561508 HNRNPU Synonymous SNV Q169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.637 313539 chr9 131858324 131858324 C T CRAT Nonsynonymous SNV D540N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 313540 chr1 92646369 92646369 A G rs543418081 KIAA1107 Synonymous SNV E530E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 313541 chr1 93698091 93698091 C A rs754073552 CCDC18 Nonsynonymous SNV Q800K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 313542 chr9 5747418 5747418 T G rs142276955 RIC1 Nonsynonymous SNV S455R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.017 313543 chr1 115053465 115053465 G A rs554959891 TRIM33 Nonsynonymous SNV A78V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 313544 chr11 17618540 17618540 C T rs938096068 OTOG Nonsynonymous SNV T1235I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 28.4 313545 chr1 115537629 115537629 T C SYCP1 Synonymous SNV L949L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.201 313546 chr1 26349280 26349280 G A rs375235021 EXTL1 Nonsynonymous SNV R48H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 313547 chr1 26380394 26380394 C T rs61749354 TRIM63 Synonymous SNV G347G 0.002 0 0 0 2 0 0 0 1 0 0 0 11.82 313548 chr11 18050884 18050884 T C rs201254061 TPH1 Synonymous SNV E165E 0 0 0 1 0 0 0.003 0 0 0 0 0 5.333 313549 chr1 117527559 117527559 G A rs780572463 PTGFRN Nonsynonymous SNV E809K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 313550 chr1 27216207 27216207 G A GPN2 Synonymous SNV I127I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 313551 chr1 27690770 27690770 A C rs182712391 MAP3K6 Nonsynonymous SNV V199G 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.165 313552 chr1 27878144 27878144 G A rs112583157 AHDC1 Synonymous SNV G161G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.627 313553 chr1 11836524 11836524 G A rs138269689 C1orf167 Nonsynonymous SNV R723H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.01 313554 chr1 29189601 29189601 G A rs77585854 OPRD1 Nonsynonymous SNV A309T 0.002 0 0.003 0 2 0 0 1 1 0 0 0 19.39 313555 chr11 20515486 20515486 A G rs891893851 PRMT3 Nonsynonymous SNV I395V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.29 313556 chr1 31660948 31660948 G A NKAIN1 Synonymous SNV V47V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 313557 chr1 12024759 12024759 C T rs745946511 PLOD1 Nonsynonymous SNV R463W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 313558 chr1 249152407 249152407 G C rs766744822 ZNF692 Nonsynonymous SNV H39Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 313559 chr1 32740366 32740366 G A rs145088108 LCK Nonsynonymous SNV R45Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.2 313560 chr1 33547930 33547930 C G rs149817424 AZIN2 Nonsynonymous SNV T27S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 313561 chr9 97349698 97349698 T G FBP2 Nonsynonymous SNV D75A 0 0 0.003 0 0 0 0 1 0 0 0 0 29 313562 chr9 97690981 97690981 G A rs140120435 LOC101928119 0 0 0.003 0 0 0 0 1 0 0 0 0 4.091 313563 chr11 33689526 33689526 C G rs763567612 KIAA1549L Nonsynonymous SNV S2089R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 313564 chr11 34477597 34477597 G A CAT Nonsynonymous SNV A251T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.94 313565 chrUn_gl000220 118431 118431 - CC RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 313566 chr9 140611229 140611229 C G rs766085475 EHMT1 Synonymous SNV V48V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.896 313567 chr1 3425194 3425194 C T rs767508405 MEGF6 Nonsynonymous SNV G530R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 313568 chr1 35223021 35223021 C A GJB5 Synonymous SNV I30I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 313569 chr11 44097104 44097104 T C rs538240295 ACCS Nonsynonymous SNV L173P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.5 313570 chr1 27876423 27876423 G C AHDC1 Nonsynonymous SNV T735S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.89 313571 chr1 36564277 36564277 G C rs79833067 COL8A2 Synonymous SNV L270L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 313572 chr1 36642065 36642065 G A rs139644057 MAP7D1 Synonymous SNV P335P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 313573 chr1 36642149 36642149 C T rs61737152 MAP7D1 Synonymous SNV P363P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 313574 chr11 46799786 46799786 A G rs774379053 CKAP5 Nonsynonymous SNV V884A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 313575 chrX 114424651 114424651 T C rs782684085 RBMXL3 Nonsynonymous SNV I216T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 313576 chrX 114426120 114426120 G A rs188644273 RBMXL3 Nonsynonymous SNV G706S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 313577 chr11 47360205 47360205 A C MYBPC3 Nonsynonymous SNV V725G 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 313578 chr20 30450504 30450504 T A rs144929635 DUSP15 Nonsynonymous SNV Y99F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 313579 chrX 118971886 118971886 C T rs140032597 UPF3B Nonsynonymous SNV R366H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 313580 chr1 33233410 33233410 C A KIAA1522 Nonsynonymous SNV D27E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 313581 chr1 40928731 40928731 G A rs12407929 ZFP69B Nonsynonymous SNV G359R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313582 chrX 135322629 135322629 T C rs772074072 MAP7D3 Synonymous SNV A166A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.279 313583 chr1 40981251 40981251 G A rs3795343 EXO5 Synonymous SNV T345T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.212 313584 chr11 61032434 61032434 C T rs151252477 VWCE Synonymous SNV T711T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 313585 chr1 38274656 38274656 T C C1orf122 Nonsynonymous SNV S19P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 313586 chr1 43908633 43908633 C T rs181686875 SZT2 Synonymous SNV D2708D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.01 313587 chr11 62285316 62285316 C A rs374498420 AHNAK Nonsynonymous SNV G5525C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 313588 chr1 39347259 39347259 T C rs1045758955 GJA9-MYCBP 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 313589 chr9 69002266 69002266 C T MIR1299 0 0 0.003 0 0 0 0 1 0 0 0 0 5.851 313590 chr11 62294327 62294327 G C rs143391519 AHNAK Nonsynonymous SNV P2521R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.29 313591 chr1 156130811 156130811 A C SEMA4A Nonsynonymous SNV R135S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 313592 chr11 62761001 62761001 T C rs766263168 SLC22A8 Nonsynonymous SNV N352S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.035 313593 chr1 46106039 46106039 A C GPBP1L1 Nonsynonymous SNV L196R 0.001 0 0 0 1 0 0 0 0 0 0 0 29 313594 chrX 153780386 153780386 G A rs148695964 IKBKG Nonsynonymous SNV E125K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 29.4 313595 chr1 43316924 43316924 C G rs201006442 ZNF691 Nonsynonymous SNV L99V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 313596 chr20 43851022 43851022 C T rs376791651 SEMG2 Nonsynonymous SNV P250L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.684 313597 chr1 156646825 156646825 C T rs764823298 NES Nonsynonymous SNV E78K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313598 chr1 156777017 156777017 G T rs200276932 SH2D2A Nonsynonymous SNV L347I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 313599 chr1 47882916 47882916 G A rs571095192 FOXE3 Nonsynonymous SNV G310D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.68 313600 chrX 32490356 32490356 T C DMD Synonymous SNV S950S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 313601 chr1 46086952 46086952 C T rs911720248 CCDC17 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 313602 chr11 64820996 64820996 C T rs200086647 NAALADL1 Nonsynonymous SNV V349I 0.001 0 0 0 1 0 0 0 0 0 0 0 29 313603 chr20 47268003 47268003 C T rs76308338 PREX1 Synonymous SNV T862T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.64 313604 chr20 47361667 47361667 G A rs141887028 PREX1 Synonymous SNV I103I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 313605 chr1 158736095 158736095 G A rs375506841 OR6N1 Synonymous SNV I126I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.983 313606 chr7 149518743 149518743 A G rs978585085 SSPO 0 0 0 1 0 0 0.003 0 0 0 0 0 8.303 313607 chrX 48325223 48325223 G A rs142811166 SLC38A5 Synonymous SNV Y94Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.186 313608 chrUn_gl000220 118436 118436 - GT RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 313609 chr1 51869184 51869184 T G rs144030750 EPS15 Synonymous SNV L252L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.432 313610 chr20 50713946 50713946 C T rs553452393 ZFP64 Nonsynonymous SNV M95I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 313611 chr20 52612577 52612577 C T rs750767610 BCAS1 Nonsynonymous SNV G246S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 313612 chrX 53620402 53620402 C T rs142126065 HUWE1 Synonymous SNV S1221S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.4 313613 chrX 107435714 107435714 G A COL4A6 Nonsynonymous SNV P390L 0 0 0.007 0 0 0 0 2 0 0 1 0 14.29 313614 chr11 67257744 67257744 C T rs199980884 MIR6752 0.001 0 0 0 1 0 0 0 0 0 0 0 3.762 313615 chr20 57769800 57769800 G A rs760495175 ZNF831 Synonymous SNV A1242A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.087 313616 chrX 13636157 13636157 C A rs148370744 EGFL6 Synonymous SNV R363R 0 0 0.007 0 0 0 0 2 0 0 1 0 20.6 313617 chr20 60887702 60887702 G A LAMA5 Synonymous SNV D3071D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.652 313618 chr20 61491599 61491599 T C rs199644521 TCFL5 Nonsynonymous SNV K237E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 313619 chr8 6482429 6482429 T C rs28709023 MCPH1 Nonsynonymous SNV L822P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.517 313620 chr8 6728339 6728339 A C rs149319759 DEFB1 Nonsynonymous SNV F24C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.24 313621 chr1 173494048 173494048 C A SLC9C2 Nonsynonymous SNV G795V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.201 313622 chr20 62221684 62221684 C A rs748067783 GMEB2 Nonsynonymous SNV A451S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.942 313623 chr1 175116156 175116156 T C rs868060505 TNN Synonymous SNV P1283P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.536 313624 chr1 7723593 7723593 A G rs151133441 CAMTA1 Nonsynonymous SNV K299R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.2 313625 chr10 115423636 115423636 - T NRAP Frameshift insertion N2Kfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 313626 chr8 11606510 11606510 G A rs55788387 GATA4 Synonymous SNV T234T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 14.95 313627 chr10 116602792 116602792 G A rs151031745 FAM160B1 Nonsynonymous SNV R208H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.08 313628 chrX 75649387 75649387 C T MAGEE1 Nonsynonymous SNV S355F 0 0 0.007 0 0 0 0 2 0 0 1 0 23.1 313629 chr11 82951925 82951925 G C ANKRD42 Nonsynonymous SNV D382H 0.001 0 0 0 1 0 0 0 0 0 0 0 29 313630 chr21 27840940 27840940 G C rs373475978 CYYR1 Synonymous SNV P116P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.625 313631 chr1 82450990 82450990 A G rs778366540 ADGRL2 Synonymous SNV E1136E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 313632 chr10 101590112 101590112 G A rs745670308 ABCC2 Nonsynonymous SNV S890N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.217 313633 chr11 62406536 62406536 C T GANAB Nonsynonymous SNV R3Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 313634 chr10 101716754 101716754 C T rs763612491 DNMBP Synonymous SNV Q159Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 313635 chr11 62644326 62644326 G A SLC3A2 Synonymous SNV S92S 0 0 0 1 0 0 0.003 0 0 0 0 0 5.414 313636 chr1 89206748 89206748 G A PKN2 Synonymous SNV Q42Q 0.001 0 0 0 1 0 0 0 0 0 0 0 3.15 313637 chr21 31993031 31993031 G T KRTAP20-4 Nonsynonymous SNV V19L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.182 313638 chr1 91178031 91178031 G A rs576834112 BARHL2 Synonymous SNV A334A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 313639 chr10 129903506 129903506 G A rs141904662 MKI67 Nonsynonymous SNV L1840F 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Likely benign 23.7 313640 chr1 92495758 92495758 G T EPHX4 Nonsynonymous SNV W41L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 313641 chr1 92495760 92495760 A G EPHX4 Nonsynonymous SNV S42G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 313642 chr21 37618506 37618506 G A rs144016996 DOP1B Nonsynonymous SNV G1410S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.025 313643 chr1 192548283 192548283 G A rs141227492 RGS1 Nonsynonymous SNV R154H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.297 313644 chr1 93965135 93965135 A G rs375455958 FNBP1L Synonymous SNV Q45Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.023 313645 chr8 24771612 24771612 G T NEFM Nonsynonymous SNV K102N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 313646 chr1 94461715 94461715 G T ABCA4 Nonsynonymous SNV H2256N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.735 313647 chr11 65321726 65321726 C T rs373381192 LTBP3 Nonsynonymous SNV G153S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.037 313648 chr11 61017177 61017177 G A rs543110889 PGA5 Synonymous SNV E270E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.361 313649 chr20 1235040 1235040 G A rs117961856 RAD21L1 Nonsynonymous SNV S537N 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 15.21 313650 chr20 1276896 1276896 G A rs766012262 SNPH Nonsynonymous SNV G5S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.25 313651 chr11 65554856 65554856 G A OVOL1 Synonymous SNV A4A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.96 313652 chr11 61633143 61633143 C T rs143032010 FADS2 Synonymous SNV D417D 0 0.003 0 0 0 1 0 0 0 0 0 0 13.9 313653 chr10 118666162 118666162 C A rs200045766 SHTN1 Nonsynonymous SNV V426L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 313654 chr20 13260480 13260480 C G rs3747933 ISM1 Nonsynonymous SNV P193R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 313655 chr20 13779113 13779113 T C rs2273317 NDUFAF5 Synonymous SNV H134H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.19 313656 chr1 201016728 201016728 G A rs149036408 CACNA1S Synonymous SNV L1490L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.26 313657 chr1 9670730 9670730 G A rs557143416 TMEM201 Synonymous SNV P544P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.256 313658 chr1 201046243 201046243 C T rs774899299 CACNA1S Synonymous SNV S544S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.03 313659 chr11 62285641 62285641 C T rs373643372 AHNAK Synonymous SNV P5416P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.367 313660 chr1 201172940 201172940 G A rs148582219 IGFN1 Synonymous SNV E274E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.91 313661 chr10 16911822 16911822 G A rs200124646 CUBN Synonymous SNV T3089T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.39 313662 chr20 1592079 1592079 G A rs187327566 SIRPB1 Synonymous SNV Y119Y 0.002 0 0 0 2 0 0 0 1 0 0 0 0.06 313663 chr11 66191897 66191897 G A rs757922648 NPAS4 Synonymous SNV L302L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.483 313664 chr10 123903118 123903118 C T rs767055639 TACC2 Nonsynonymous SNV P1911S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.732 313665 chr10 123987364 123987364 A G rs771274057 TACC2 Synonymous SNV E657E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.354 313666 chr1 20141443 20141443 C T rs368042107 RNF186 Nonsynonymous SNV R51Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 313667 chr20 17596587 17596587 G A rs2229893 RRBP1 Nonsynonymous SNV T1312M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.9 313668 chr20 17608233 17608233 C T rs1051954 RRBP1 Synonymous SNV A948A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.47 313669 chr21 45502757 45502757 C T rs752963812 TRAPPC10 Synonymous SNV G137G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 313670 chr21 45655348 45655348 G C rs373042976 ICOSLG, LOC102723996 Nonsynonymous SNV N51K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 313671 chr10 127460922 127460922 C T rs139282906 MMP21 Nonsynonymous SNV V282I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 313672 chr11 64033974 64033974 A G rs777990791 PLCB3 Nonsynonymous SNV T1055A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.86 313673 chr20 18534959 18534959 G A SEC23B Synonymous SNV L691L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 313674 chr1 203676159 203676159 G A rs2229564 ATP2B4 Synonymous SNV T374T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.775 313675 chr10 29762810 29762810 G A rs751498024 SVIL Nonsynonymous SNV S1403L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 313676 chr20 20585894 20585894 C T rs142419151 RALGAPA2 Nonsynonymous SNV V655I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 313677 chr11 73021755 73021755 G A ARHGEF17 Nonsynonymous SNV G691E 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 313678 chr20 2308786 2308786 G A rs375988138 TGM3 Nonsynonymous SNV A370T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 313679 chr20 18508214 18508214 A G rs145362985 SEC23B Synonymous SNV Q356Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.756 313680 chr21 47734843 47734843 C T rs548137376 C21orf58 Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.209 313681 chr10 45430235 45430235 G A rs201160000 TMEM72 Nonsynonymous SNV G43S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 313682 chr20 19915799 19915799 A G rs1011420867 RIN2 Synonymous SNV T38T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.218 313683 chr20 2796341 2796341 G C rs148817519 C20orf141 Nonsynonymous SNV G140R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 313684 chr20 24949671 24949671 T G APMAP Nonsynonymous SNV N300H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 313685 chr10 17113560 17113560 A T rs758711669 CUBN Synonymous SNV P830P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 313686 chr11 84865613 84865613 T C rs1016328462 DLG2 Nonsynonymous SNV D127G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.997 313687 chr11 85420476 85420476 T C rs751500423 SYTL2 Nonsynonymous SNV Q24R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 313688 chr1 212799950 212799950 G A rs779295059 FAM71A Synonymous SNV T577T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.758 313689 chr10 19641055 19641055 C T rs190271447 MALRD1 Nonsynonymous SNV R1424W 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.3 313690 chr10 55782795 55782795 C T rs202136369 PCDH15 Nonsynonymous SNV A724T 0 0 0.003 0 0 0 0 1 0 0 0 0 27 313691 chr20 32228239 32228239 A G rs767425238 CBFA2T2 Nonsynonymous SNV T464A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.964 313692 chr20 32850663 32850663 C T rs149537165 ASIP Synonymous SNV I62I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 313693 chr10 28149666 28149666 C T rs772636599 ARMC4 Nonsynonymous SNV R495H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 313694 chr22 25251359 25251359 G T rs771782020 SGSM1 Nonsynonymous SNV V211L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 313695 chr20 33851661 33851661 C A rs375374343 MMP24 Nonsynonymous SNV D295E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 313696 chr10 29756799 29756799 G T SVIL Nonsynonymous SNV P1524H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 313697 chr11 94731710 94731710 C T rs377430909 KDM4D Nonsynonymous SNV R392C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.604 313698 chr20 3765373 3765373 G A rs61734519 CENPB Synonymous SNV H586H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.713 313699 chr8 123964900 123964900 G A rs201080427 ZHX2 Nonsynonymous SNV G384R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 313700 chr20 43254256 43254256 G A rs374413123 ADA Synonymous SNV F144F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 313701 chr20 40033295 40033295 T C rs200359247 CHD6 Nonsynonymous SNV R2696G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 313702 chr20 44047974 44047974 G A rs80158178 PIGT Nonsynonymous SNV R76Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 29.4 313703 chr20 43249744 43249744 G A rs121908718 ADA Nonsynonymous SNV P162L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 313704 chr11 111428325 111428325 G T rs773355125 LAYN Nonsynonymous SNV V95L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.708 313705 chr10 73553106 73553106 A G rs376414352 CDH23 Nonsynonymous SNV R2141G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.74 313706 chr11 93462834 93462834 A T rs559743616 CEP295 Nonsynonymous SNV K2485M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 313707 chr20 5169799 5169799 C T rs34096549 CDS2 Synonymous SNV F356F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 313708 chr11 94760206 94760206 G T rs61737594 KDM4E Synonymous SNV P495P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.874 313709 chr1 228476394 228476394 C T rs374502057 OBSCN Nonsynonymous SNV R3382W 0.001 0 0 0 1 0 0 0 0 0 0 0 23 313710 chr10 79770276 79770276 G A rs746364633 POLR3A Nonsynonymous SNV P532L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 313711 chr10 5147842 5147842 G C rs782141648 AKR1C3 Nonsynonymous SNV R301T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 313712 chr22 37962384 37962384 G A rs750109725 CDC42EP1 Nonsynonymous SNV A10T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.55 313713 chr20 58441644 58441644 T C rs149054585 SYCP2 Nonsynonymous SNV I1376V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 313714 chr20 58564004 58564004 G A rs369677402 CDH26 Nonsynonymous SNV V357M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 313715 chr22 38610519 38610519 G T MAFF Synonymous SNV G14G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 313716 chr1 228547927 228547930 ACAC - OBSCN H6447Afs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 313717 chr1 22987673 22987673 C T C1QB Nonsynonymous SNV R186C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 313718 chr10 90524233 90524233 A T rs200998153 LIPN Nonsynonymous SNV Y98F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.294 313719 chr22 42089507 42089507 A G rs978596110 C22orf46 0.001 0 0 0 1 0 0 0 0 0 0 0 5.288 313720 chr1 232575219 232575219 A T rs200681906 SIPA1L2 Nonsynonymous SNV S1222R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 313721 chr10 68687118 68687118 G A LRRTM3 Synonymous SNV L148L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.911 313722 chr10 91404929 91404929 C T rs772952490 PANK1 Nonsynonymous SNV S44N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.549 313723 chr1 234601414 234601414 G A rs140730049 TARBP1 Nonsynonymous SNV S430F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 313724 chr10 94825713 94825713 G A rs202104039 CYP26C1 Nonsynonymous SNV E288K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 313725 chr20 60987940 60987940 T C rs139582052 RBBP8NL Synonymous SNV E564E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 313726 chr11 113235577 113235577 C G rs150855001 TTC12 Nonsynonymous SNV L588V 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.2 313727 chr20 61287939 61287939 C T rs79373363 SLCO4A1 Nonsynonymous SNV R45C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 313728 chr8 145111554 145111554 C T rs200399200 OPLAH Nonsynonymous SNV R604H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.2 313729 chr1 236212119 236212119 C G NID1 Nonsynonymous SNV Q132H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 313730 chr20 61910270 61910270 G A rs2273499 ARFGAP1 Nonsynonymous SNV V131M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 313731 chr20 61919142 61919150 GGCGGGGAG - rs549946755 ARFGAP1 G271_G273del 0.001 0 0 0 1 0 0 0 0 0 0 0 313732 chr20 62038449 62038449 G C KCNQ2 Nonsynonymous SNV H695D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.031 313733 chr11 117099028 117099028 C T rs145932578 PCSK7 Synonymous SNV T169T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.82 313734 chr20 62203657 62203657 G A rs12479563 HELZ2 Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.622 313735 chr20 62324280 62324280 C T rs12480346 RTEL1 Synonymous SNV S702S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.855 313736 chr10 7811260 7811260 C T KIN Synonymous SNV V239V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.688 313737 chr20 62333220 62333220 C T ARFRP1 Nonsynonymous SNV V80I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 313738 chr11 119077277 119077277 G A CBL Synonymous SNV T50T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.272 313739 chr20 62851219 62851219 G A rs977126432 MYT1 Nonsynonymous SNV A709T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 313740 chr1 24406545 24406545 C T rs375055129 MYOM3 Synonymous SNV K849K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 313741 chr20 62577298 62577298 C T rs142680455 UCKL1 Nonsynonymous SNV A133T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 313742 chr21 15746111 15746111 G A rs200646454 HSPA13 Nonsynonymous SNV R415C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313743 chr12 26580969 26580969 G A rs755698418 ITPR2 Synonymous SNV C2274C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 313744 chr21 28216659 28216659 G T rs140248284 ADAMTS1 Synonymous SNV P205P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.94 313745 chr10 91222321 91222321 A G rs760400524 SLC16A12 Synonymous SNV S5S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 313746 chr21 31538678 31538678 C G rs139335071 CLDN17 Synonymous SNV V86V 0.002 0 0.003 0 2 0 0 1 1 0 0 0 9.819 313747 chr21 31964897 31964897 G A rs79025761 KRTAP6-3 Nonsynonymous SNV G45R 0.002 0 0.003 0 2 0 0 1 1 0 0 0 5.42 313748 chr21 34925304 34925304 A G rs147302393 SON Nonsynonymous SNV E1256G 0.002 0 0 0 2 0 0 0 1 0 0 0 23.5 313749 chr9 35740889 35740889 C T rs368192956 GBA2 Nonsynonymous SNV R320Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 10.74 313750 chr21 43411953 43411953 G C ZBTB21 Nonsynonymous SNV P751R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 313751 chr21 43984831 43984831 A C rs138613912 SLC37A1 Synonymous SNV A383A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.65 313752 chr1 26369892 26369892 A G rs761464865 SLC30A2 Nonsynonymous SNV I141T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 313753 chr21 44323590 44323590 T A NDUFV3 Synonymous SNV S156S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.665 313754 chr1 27153446 27153475 AGCGGCAGCGGCAGCGGCAGCGGGAGCGGG - ZDHHC18 G52_S61del 0.001 0 0 0 1 0 0 0 0 0 0 0 313755 chr11 121038909 121038909 T G rs516678 TECTA Synonymous SNV V1911V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.255 313756 chr21 46387005 46387005 G A FAM207A Nonsynonymous SNV A137T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 313757 chr2 11777977 11777977 C T GREB1 Synonymous SNV L1828L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 313758 chr21 47422614 47422614 G T rs140547835 COL6A1 Nonsynonymous SNV Q808H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.54 313759 chr12 10766119 10766119 T C MAGOHB Nonsynonymous SNV S5G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.93 313760 chr21 47558428 47558428 G A rs571676774 FTCD Synonymous SNV D479D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.387 313761 chr2 120439194 120439194 G A rs571857068 TMEM177 Synonymous SNV S255S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.8 313762 chr11 123886931 123886931 A G rs150906375 OR10G4 Nonsynonymous SNV Y217C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 313763 chr2 125521340 125521340 G A rs770015217 CNTNAP5 Nonsynonymous SNV A776T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 313764 chr12 6840178 6840178 C T COPS7A Synonymous SNV S267S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.26 313765 chr11 113683066 113683066 C T USP28 Nonsynonymous SNV G302E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 313766 chr12 7053009 7053009 G A rs190235178 RNU7-1 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 313767 chr22 18378113 18378113 C T rs149256637 MICAL3 Synonymous SNV Q462Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 313768 chr12 12232321 12232321 G A rs142096906 BCL2L14 Nonsynonymous SNV A28T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 313769 chr11 125359605 125359605 C T rs575776265 FEZ1 Synonymous SNV P23P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 313770 chr11 125495732 125495732 A G rs565780672 CHEK1 Nonsynonymous SNV N26S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.812 313771 chr11 117392062 117392062 G A DSCAML1 Synonymous SNV V332V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 313772 chr11 118920312 118920312 C T HYOU1 Nonsynonymous SNV G588S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 313773 chr22 19712094 19712094 C T rs1059196 SEPT5-GP1BB 0.002 0 0 0 2 0 0 0 1 0 0 0 9.605 313774 chr12 9360868 9360868 T C rs377732423 PZP Nonsynonymous SNV N24D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 313775 chr12 10034195 10034195 A G rs902658025 KLRF2 Star tloss M1? 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 313776 chr11 119244162 119244162 C T rs551604989 USP2 Nonsynonymous SNV R10H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 313777 chr11 129735813 129735813 G A rs145983657 NFRKB Synonymous SNV S1224S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 313778 chr22 23406212 23406212 G A rs763810708 RSPH14 Nonsynonymous SNV T174I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 313779 chr1 43917138 43917138 G A rs752437218 HYI Stop gain Q235X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 313780 chr11 18118350 18118350 C T SAAL1 Nonsynonymous SNV V101I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 313781 chr2 163374524 163374524 G A rs752170303 KCNH7 Nonsynonymous SNV P203L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 313782 chr12 42863272 42863272 T C PRICKLE1 Nonsynonymous SNV M122V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 2.446 313783 chr1 46476447 46476447 A G rs202066492 MAST2 Nonsynonymous SNV N342D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.64 313784 chr9 117068924 117068924 G A rs149629527 COL27A1 Nonsynonymous SNV R1688Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 28.1 313785 chr22 35719846 35719846 C T TOM1 Nonsynonymous SNV A151V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.174 313786 chr11 128556160 128556160 G C rs182299411 LOC101929538 0 0 0.003 0 0 0 0 1 0 0 0 0 1.083 313787 chr11 130343077 130343077 C T rs374831999 ADAMTS15 Synonymous SNV N738N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 313788 chr22 37770294 37770296 CTC - ELFN2 E427del 0.001 0 0 0 1 0 0 0 0 0 0 0 313789 chr11 2662265 2662265 T C rs4930004 KCNQ1OT1 0 0 0.007 0 0 0 0 2 0 0 1 0 11.31 313790 chr11 27384741 27384741 T C rs541945482 CCDC34 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23 313791 chr2 179415701 179415701 A G rs202185465 TTN Synonymous SNV D21454D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.32 313792 chr11 17581207 17581207 A G rs115772736 OTOG Nonsynonymous SNV N459S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.5 313793 chr22 41605776 41605776 G C rs143455680 L3MBTL2 Nonsynonymous SNV R34P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 28.3 313794 chr11 17655771 17655771 G A rs771765463 OTOG Nonsynonymous SNV G2487R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 313795 chr22 41753399 41753401 CTG - rs775304121 ZC3H7B A971del 0.001 0 0 0 1 0 0 0 0 0 0 0 313796 chr22 37397934 37397934 T C rs142425315 TEX33 Nonsynonymous SNV N145D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 313797 chr2 179588272 179588272 G T rs201155967 TTN Synonymous SNV I5941I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.326 313798 chr22 42610329 42610329 A G rs978275854 TCF20 Nonsynonymous SNV V328A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.634 313799 chr22 39222531 39222531 G A rs769489717 NPTXR Nonsynonymous SNV P358S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 313800 chr2 183011809 183011809 T C rs754222248 PDE1A Synonymous SNV S529S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.705 313801 chr11 43284538 43284538 C T rs77134638 HNRNPKP3 0 0 0.007 0 0 0 0 2 0 0 0 0 2.666 313802 chr22 45921522 45921522 C T rs552439093 FBLN1 Synonymous SNV H95H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.447 313803 chr22 46615880 46615880 T C rs1800234 PPARA Nonsynonymous SNV V227A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.156 313804 chr2 187368776 187368776 G A ZC3H15 Synonymous SNV L184L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.836 313805 chr22 50635964 50635964 C T rs766257487 TRABD Synonymous SNV F210F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.582 313806 chr2 191364879 191364879 A G MFSD6 Nonsynonymous SNV S771G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.505 313807 chr11 35492335 35492335 T G rs762715835 PAMR1 Nonsynonymous SNV M176L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 313808 chr12 53233706 53233706 G A rs148831825 KRT78 Synonymous SNV D260D 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 4.1 313809 chr1 8420435 8420435 A G rs577835550 RERE Synonymous SNV P490P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 313810 chr1 85551703 85551703 C T WDR63 Stop gain Q244X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 313811 chr11 44096166 44096166 C T rs538858839 ACCS Nonsynonymous SNV R142W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 313812 chr1 879137 879137 G A rs756683670 SAMD11 Synonymous SNV L583L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.211 313813 chr2 202609127 202609127 G C ALS2 Nonsynonymous SNV A675G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 313814 chr2 202955494 202955494 G A KIAA2012 Nonsynonymous SNV G124E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.378 313815 chr2 203591018 203591018 C T rs778395003 FAM117B Nonsynonymous SNV R298W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313816 chr11 47267356 47267356 C G rs767118164 ACP2 Synonymous SNV R77R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.469 313817 chr12 55248906 55248906 C T rs201140321 MUCL1 Nonsynonymous SNV P22L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.575 313818 chr12 55688511 55688511 G A rs192785175 OR6C6 Nonsynonymous SNV S169F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 313819 chr2 113251918 113251918 C T rs201691891 TTL Synonymous SNV N145N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.74 313820 chr2 209045529 209045529 C A rs777240247 C2orf80 Synonymous SNV P102P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 313821 chr11 55339669 55339669 G A rs780850295 OR4C16 Synonymous SNV K22K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 313822 chr20 13698075 13698075 C T rs750415607 ESF1 Synonymous SNV L734L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.97 313823 chr2 1500393 1500393 G A rs28991292 TPO Nonsynonymous SNV V575M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.8 313824 chr2 150071216 150071216 T A rs143100530 LYPD6B Nonsynonymous SNV L168M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 313825 chr12 100453018 100453018 T C rs151054953 UHRF1BP1L Synonymous SNV Q679Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 313826 chr20 17705764 17705764 G A rs760131545 BANF2 Nonsynonymous SNV A32T 0.002 0 0 0 2 0 0 0 0 0 0 0 28.6 313827 chr20 20147043 20147043 C T rs114873214 CFAP61 Nonsynonymous SNV S403L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313828 chr20 20517422 20517422 G A rs753542623 RALGAPA2 Nonsynonymous SNV R1098C 0.002 0 0 0 2 0 0 0 0 0 0 0 32 313829 chr2 228111412 228111412 G A rs75683214 COL4A3 Synonymous SNV G133G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.34 313830 chr12 104100588 104100588 G A rs201406281 STAB2 Nonsynonymous SNV G1339S 0 0.003 0 0 0 1 0 0 0 0 0 0 34 313831 chr12 109719343 109719343 G A rs778183505 FOXN4 Nonsynonymous SNV P388L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 313832 chr12 111088072 111088072 T G HVCN1 Synonymous SNV S199S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.001 313833 chr20 2776779 2776779 C A rs758414625 CPXM1 Nonsynonymous SNV G424V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 313834 chr12 109898518 109898518 C G rs377314709 KCTD10 Nonsynonymous SNV E104Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 313835 chr2 169847412 169847412 A G rs2287616 ABCB11 Synonymous SNV Y269Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.273 313836 chr2 169870855 169870855 A G rs3815675 ABCB11 Synonymous SNV D36D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.848 313837 chr12 110352383 110352383 A G rs780330761 TCHP Nonsynonymous SNV E424G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.18 313838 chr12 111020639 111020639 G C rs144550148 PPTC7 Synonymous SNV A66A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.385 313839 chr12 112666601 112666601 T A HECTD4 Synonymous SNV G2188G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 9.233 313840 chr12 119978461 119978461 A G rs888851373 CCDC60 Nonsynonymous SNV I532V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 313841 chr2 17699528 17699528 G A RAD51AP2 Nonsynonymous SNV P52L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 313842 chr11 56143126 56143126 G A rs760506000 OR8U1, OR8U8 Synonymous SNV A9A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.456 313843 chr11 58190228 58190228 G A rs77952368 OR5B2 Synonymous SNV S169S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.387 313844 chr12 121013623 121013623 T C rs771132242 RNF10 Synonymous SNV P748P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.312 313845 chr12 122361526 122361526 A G WDR66 0 0 0 1 0 0 0.003 0 0 0 0 0 8.934 313846 chr11 58892558 58892558 C T rs35732637 FAM111B Synonymous SNV L300L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.63 313847 chr12 121666824 121666824 T C rs771011084 P2RX4 Nonsynonymous SNV L242P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.47 313848 chr12 122702827 122702827 T C rs746807208 DIABLO Nonsynonymous SNV T28A 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.8 313849 chr2 179585874 179585874 T C TTN Synonymous SNV E6380E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.769 313850 chr2 241657522 241657522 T G KIF1A Nonsynonymous SNV K1659Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 313851 chr2 179600408 179600408 C T rs184740744 TTN Nonsynonymous SNV S3678N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.943 313852 chr2 179615236 179615236 A G TTN Nonsynonymous SNV V3964A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 313853 chr2 179640701 179640701 C T TTN Nonsynonymous SNV V1918M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 313854 chr2 179642583 179642583 A G rs142317580 TTN Nonsynonymous SNV L1397P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.1 313855 chr12 133215749 133215749 G A rs936176137 POLE Synonymous SNV H1838H 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.978 313856 chr13 114060850 114060850 G A rs543773299 LOC101928841 Nonsynonymous SNV S552L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.72 313857 chr12 133249316 133249316 G A rs116263919 POLE Nonsynonymous SNV T528M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.6 313858 chr11 6239857 6239857 G A rs141051752 FAM160A2 Nonsynonymous SNV R470C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 313859 chr20 51871826 51871826 C T rs201107992 TSHZ2 Nonsynonymous SNV A607V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 313860 chr2 187605100 187605100 C T rs955013373 FAM171B Synonymous SNV P128P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 313861 chr2 18766191 18766191 A G rs117298882 NT5C1B, NT5C1B-RDH14 Synonymous SNV H106H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.011 313862 chr2 188211005 188211005 C A rs148965095 CALCRL Nonsynonymous SNV G431V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.4 313863 chr13 21976996 21976996 T C ZDHHC20 Nonsynonymous SNV Y64C 0 0 0 1 0 0 0.003 0 0 0 0 0 28 313864 chr13 29933465 29933465 G A rs765544917 MTUS2 Nonsynonymous SNV R991H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 313865 chr2 198571709 198571709 T C rs141544058 MARS2 Nonsynonymous SNV V527A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.73 313866 chr13 31227408 31227408 T G rs139994768 USPL1 Nonsynonymous SNV N125K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.08 313867 chr11 60899708 60899708 T C rs758133603 VPS37C Nonsynonymous SNV T218A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.703 313868 chr2 204016201 204016201 A G rs968406138 NBEAL1 Nonsynonymous SNV I1797V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.516 313869 chr2 204305033 204305033 G A rs750784154 RAPH1 Synonymous SNV T960T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.754 313870 chr2 189975010 189975010 G T rs149877855 COL5A2 Nonsynonymous SNV P88H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.8 313871 chr2 43451716 43451716 C T rs369421544 ZFP36L2 Synonymous SNV P409P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 313872 chr2 43783690 43783690 G A rs201555818 THADA Nonsynonymous SNV S823L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.28 313873 chr2 20845165 20845165 C A rs756893493 HS1BP3 Nonsynonymous SNV V45L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 313874 chr2 209025758 209025758 G A rs116344874 CRYGA Stop gain R99X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.7 313875 chr11 66359204 66359204 G T CCDC87 Nonsynonymous SNV P428Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 313876 chr11 67225921 67225921 C T rs569810738 CABP4 Nonsynonymous SNV A139V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 313877 chr2 211539656 211539656 G T CPS1 Nonsynonymous SNV A1378S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 313878 chr20 62493036 62493036 G A rs201132416 ABHD16B Nonsynonymous SNV R48Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.23 313879 chr20 62493098 62493098 G A rs775224006 ABHD16B Nonsynonymous SNV G69R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.455 313880 chr2 202672302 202672302 G A CDK15 Nonsynonymous SNV S70N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 313881 chr11 64121601 64121601 C T rs778015042 CCDC88B Nonsynonymous SNV P1353L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 313882 chr21 16339612 16339612 A G NRIP1 Nonsynonymous SNV M301T 0.001 0 0 0 1 0 0 0 0 0 0 0 22 313883 chr14 36104678 36104678 T C RALGAPA1 Nonsynonymous SNV I1888V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 313884 chr21 27264112 27264112 G T rs116650065 APP Synonymous SNV V580V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.31 313885 chr2 207172521 207172521 C T rs199916841 ZDBF2 Nonsynonymous SNV A1090V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.93 313886 chr13 76457206 76457206 G A rs947020043 LMO7DN 0 0.003 0 1 0 1 0.003 0 0 0 0 0 23.1 313887 chr13 77745666 77745666 C A rs35887505 MYCBP2 Nonsynonymous SNV A1919S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.9 313888 chr2 219526633 219526633 C T rs201726747 BCS1L Synonymous SNV D37D 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 10.08 313889 chr2 219824862 219824862 A G CDK5R2 Nonsynonymous SNV K107R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 313890 chr2 219888886 219888886 T C rs563698043 CFAP65 Nonsynonymous SNV R816G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 313891 chr2 219920228 219920228 G T IHH Nonsynonymous SNV Q313K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.248 313892 chr2 220100201 220100201 C G rs2293075 ANKZF1 Nonsynonymous SNV S356C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 313893 chr13 99099003 99099003 C G FARP1 Stop gain Y996X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 313894 chr2 220336636 220336636 C T rs368441604 SPEG Synonymous SNV H1254H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 313895 chr2 71169429 71169429 A G rs148426980 ATP6V1B1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.543 313896 chr21 33044459 33044459 C T rs779624848 SCAF4 Nonsynonymous SNV M884I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 313897 chr11 73021123 73021123 A G rs150819195 ARHGEF17 Synonymous SNV S480S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.303 313898 chr2 220435859 220435859 C T rs200451309 OBSL1 Synonymous SNV K32K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.737 313899 chr2 7164540 7164540 C T rs761763808 RNF144A Nonsynonymous SNV R101C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 313900 chr11 66478163 66478163 G A SPTBN2 Synonymous SNV I321I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.72 313901 chr2 73716803 73716803 G A ALMS1 Nonsynonymous SNV V2572I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 313902 chr2 74842228 74842228 G A rs186462894 M1AP Nonsynonymous SNV R97C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 313903 chr2 85843526 85843526 G T rs759983127 USP39 Nonsynonymous SNV V70L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 313904 chr2 234355439 234355439 C T rs148025402 DGKD Synonymous SNV S428S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 313905 chr10 124359582 124359582 T C rs200551848 DMBT1 Nonsynonymous SNV S596P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.053 313906 chr2 238283529 238283529 C T rs115297652 COL6A3 Nonsynonymous SNV V462M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24 313907 chr2 238283543 238283543 C T rs112638391 COL6A3 Nonsynonymous SNV R457Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.4 313908 chr2 238419238 238419238 G A rs145091337 MLPH Synonymous SNV K44K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.59 313909 chr2 239009146 239009146 C T rs575214108 ESPNL Nonsynonymous SNV P29L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.821 313910 chr21 45535690 45535690 A G rs759012100 LOC102724159, PWP2 Nonsynonymous SNV E242G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 313911 chr3 100467325 100467325 C T rs548772203 TFG Nonsynonymous SNV R385C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 313912 chr2 23974938 23974938 T C rs749227110 ATAD2B Nonsynonymous SNV H1447R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 313913 chr11 7723839 7723839 A C rs375950148 OVCH2 Nonsynonymous SNV Y110D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 313914 chr3 111805263 111805263 G A C3orf52 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.587 313915 chr2 242148764 242148764 T A rs4675982 ANO7 Nonsynonymous SNV V381E 0.002 0 0 0 2 0 0 0 1 0 0 0 24.2 313916 chr11 83182703 83182703 A G rs146333277 DLG2 Synonymous SNV S163S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 8.799 313917 chr2 242207043 242207043 G A rs75748232 HDLBP Synonymous SNV D7D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.694 313918 chr14 23713564 23713564 C A RNF212B Nonsynonymous SNV P63T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 313919 chr2 242430994 242430994 C T rs75022667 FARP2 Nonsynonymous SNV S896F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.39 313920 chr12 101587489 101587489 G A rs146366832 SLC5A8 Synonymous SNV S202S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 313921 chr22 17600948 17600948 G A rs779763078 TMEM121B Nonsynonymous SNV A357V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.385 313922 chr12 104309554 104309554 A G rs149604013 TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.914 313923 chr2 25470526 25470526 C G rs778681446 DNMT3A Synonymous SNV T164T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 313924 chr11 94918497 94918497 C G rs11021068 SESN3 Nonsynonymous SNV V90L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 313925 chr22 21406582 21406582 G A rs140620225 LRRC74B Nonsynonymous SNV E223K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 313926 chr12 110811996 110811996 C G ANAPC7 Nonsynonymous SNV E585Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 313927 chr2 241874426 241874426 T C CROCC2 Synonymous SNV L629L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 313928 chr12 103245479 103245479 C A rs5030853 PAH Nonsynonymous SNV A300S 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 34 313929 chr14 50089078 50089078 G A MGAT2 Synonymous SNV V364V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.07 313930 chr12 114282592 114282592 C G rs138017624 RBM19 Nonsynonymous SNV R889T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 313931 chr2 37304144 37304144 G C rs150874894 HEATR5B Synonymous SNV V119V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.752 313932 chr2 37471114 37471114 C A rs139125264 NDUFAF7 Nonsynonymous SNV Q166K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.8 313933 chr3 12544761 12544761 G A rs148549222 TSEN2 Synonymous SNV R103R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.77 313934 chr12 120661970 120661970 C T rs556617318 PXN Nonsynonymous SNV R75Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 313935 chr12 120741450 120741450 T C rs768689629 SIRT4 Nonsynonymous SNV I29T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 313936 chr14 55467284 55467284 C T rs760550603 WDHD1 Synonymous SNV A170A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.63 313937 chr12 110968344 110968344 C A rs201984831 RAD9B Nonsynonymous SNV F183L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 313938 chr12 111375064 111375064 G A rs544828778 LINC01405 0 0 0.003 0 0 0 0 1 0 0 0 0 6.144 313939 chr2 46609161 46609161 G A EPAS1 Nonsynonymous SNV M740I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 313940 chr2 47274443 47274443 G T rs4953451 TTC7A Nonsynonymous SNV R653M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.983 313941 chr2 51253553 51253553 T C NRXN1 Nonsynonymous SNV Q276R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 313942 chr12 123433275 123433275 C T rs775472474 ABCB9 Nonsynonymous SNV V317M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 313943 chr12 114400138 114400138 T C rs145566044 RBM19 Nonsynonymous SNV K40E 0 0 0.003 0 0 0 0 1 0 0 0 0 27 313944 chr2 55473513 55473513 C T MTIF2 Nonsynonymous SNV E356K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 313945 chr12 116586410 116586415 ATATCT - rs556083996 MIR620 0 0 0.003 0 0 0 0 1 0 0 0 0 313946 chr2 56104885 56104885 G A rs536279337 EFEMP1 Synonymous SNV C252C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.575 313947 chr14 64586207 64586207 C T rs148708516 SYNE2 Synonymous SNV G4301G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.76 313948 chr12 127229764 127229764 C T rs11058793 LINC00943 0 0 0.003 0 0 0 0 1 0 0 0 0 5.439 313949 chr14 66082929 66082929 G T rs374236653 FUT8 Nonsynonymous SNV G107V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.9 313950 chr2 68740814 68740814 T C rs762404537 APLF 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 313951 chr3 137888982 137888982 A G rs550357568 DBR1 Synonymous SNV H152H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.297 313952 chr22 38111858 38111858 C G rs760570250 TRIOBP Nonsynonymous SNV P182R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 313953 chr2 7018021 7018021 G A rs2305256 RSAD2 Synonymous SNV P30P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.282 313954 chr2 70402903 70402903 T G rs3213941 C2orf42 Nonsynonymous SNV Q314P 0.002 0 0 0 2 0 0 0 1 0 0 0 18.39 313955 chr14 71374624 71374624 G C rs765077137 PCNX1 Synonymous SNV G19G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.546 313956 chr12 132834416 132834416 G A GALNT9 Synonymous SNV P257P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.903 313957 chr14 74059025 74059025 - C rs749641100 ACOT4 Frameshift insertion Q122Pfs*41 0 0 0 1 0 0 0.003 0 0 0 0 0 313958 chr22 40417839 40417839 T C FAM83F Nonsynonymous SNV L442P 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 313959 chr22 40037121 40037121 C T rs552387846 CACNA1I Synonymous SNV S330S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 313960 chr22 41739490 41739490 C T rs762721243 ZC3H7B Nonsynonymous SNV R457W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 313961 chr2 74687635 74687635 G A rs143463665 WBP1 Nonsynonymous SNV G213S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 313962 chr2 74763594 74763594 C T rs190924518 LOXL3 Nonsynonymous SNV R161H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.48 313963 chr3 156254516 156254518 AAG - rs760737424 KCNAB1 K386del 0.001 0 0 0 1 0 0 0 0 0 0 0 313964 chr2 85576567 85576567 C T rs375130450 RETSAT Nonsynonymous SNV A313T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 313965 chr12 25272125 25272125 A G rs376920188 CASC1 Synonymous SNV N385N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 313966 chr14 91338427 91338427 T C rs747193614 RPS6KA5 Synonymous SNV S581S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.398 313967 chr2 88396210 88396210 G A rs78415862 SMYD1 Synonymous SNV Q252Q 0.002 0 0 0 2 0 0 0 1 0 0 0 0.382 313968 chr3 167245724 167245724 T C rs139773238 WDR49 Nonsynonymous SNV I478V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 313969 chr12 20870120 20870120 C T rs1053118916 SLCO1C1 Nonsynonymous SNV S126L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 313970 chr22 50171388 50171388 G C BRD1 Synonymous SNV P972P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.969 313971 chr2 97268597 97268597 C T rs140252106 KANSL3 Nonsynonymous SNV A516T 0.002 0 0 0 2 0 0 0 1 0 0 0 22.6 313972 chr2 73457259 73457259 C G PRADC1 Nonsynonymous SNV K50N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 313973 chr12 2786509 2786509 C T rs145956208 CACNA1C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.633 313974 chr3 178785520 178785520 G A rs200945907 ZMAT3 Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.7 313975 chr3 100544675 100544675 G A rs76822989 ABI3BP Synonymous SNV D808D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.167 313976 chr3 179306761 179306761 G A rs766949247 MRPL47 Nonsynonymous SNV R108C 0.001 0 0 0 1 0 0 0 0 0 0 0 30 313977 chr3 101370052 101370052 T C rs562107949 ZBTB11 Synonymous SNV Q1040Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 313978 chr12 29640723 29640723 A G OVCH1 Synonymous SNV G265G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.184 313979 chr3 101395629 101395629 C T rs3749323 ZBTB11 Nonsynonymous SNV G44S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 313980 chr22 50941834 50941834 G A rs144527949 LMF2 Nonsynonymous SNV R679W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 313981 chr3 183547446 183547446 T C rs552981853 PARL Synonymous SNV L276L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 313982 chr22 50942781 50942781 G A LMF2 Nonsynonymous SNV P544L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 313983 chr12 32906956 32906956 C G YARS2 Nonsynonymous SNV K281N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 313984 chr12 48111917 48111917 G A ENDOU Nonsynonymous SNV A39V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.17 313985 chr3 185986620 185986620 G A rs762067212 DGKG Synonymous SNV T362T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 313986 chr3 113737675 113737675 A G rs967429503 CCDC191 Nonsynonymous SNV L316P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 313987 chr12 50050904 50050904 G A rs374502975 FMNL3 Synonymous SNV H174H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 313988 chr12 52713030 52713030 C A rs561722742 KRT83 Nonsynonymous SNV R168L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 313989 chr15 32927988 32927988 C G rs146176251 ARHGAP11A Nonsynonymous SNV S263C 0 0 0 1 0 0 0.003 0 0 0 0 0 no interpretation for the single variant 24 313990 chr15 32930001 32930001 C T rs146017278 ARHGAP11A Synonymous SNV I820I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.77 313991 chr15 38786827 38786827 G A RASGRP1 Nonsynonymous SNV A637V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 313992 chr15 40293343 40293343 C T rs1048926925 EIF2AK4 Nonsynonymous SNV A1026V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 313993 chr2 121745846 121745846 C A rs1047100315 GLI2 Nonsynonymous SNV P644T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.618 313994 chr3 126236504 126236504 C T rs184621973 UROC1 Nonsynonymous SNV R20Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.8 313995 chr12 54428232 54428232 A G HOXC5 Nonsynonymous SNV K209E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 313996 chr3 126261226 126261226 G A rs111645062 CHST13 Synonymous SNV V277V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.116 313997 chr3 126268879 126268879 C G rs113303966 C3orf22 Synonymous SNV P86P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.407 313998 chr3 119134877 119134877 A G rs201451848 ARHGAP31 Synonymous SNV T1367T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 313999 chr3 121351315 121351315 - GGCTCAGGCTCAGGCTCA HCLS1 E338_N339insPEPEPE 0.001 0 0 0 1 0 0 0 0 0 0 0 314000 chr3 130095436 130095436 G C rs934146720 COL6A5 Nonsynonymous SNV A142P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 314001 chr15 42160684 42160684 G T rs781539798 SPTBN5 Nonsynonymous SNV A1990E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 314002 chr15 42279569 42279569 G A rs779914057 PLA2G4E Synonymous SNV D612D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.718 314003 chr15 81578129 81578129 C T rs772041105 IL16 Synonymous SNV P430P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 314004 chr3 132277907 132277907 G A rs138611343 ACAD11 Nonsynonymous SNV R751C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 314005 chr15 42981371 42981371 C A rs761767851 STARD9 Nonsynonymous SNV P2532H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 314006 chr15 43010972 43010972 C T rs917224637 STARD9 Nonsynonymous SNV A4622V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.71 314007 chr3 13360650 13360650 G T NUP210 Nonsynonymous SNV H1829N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 314008 chr12 7022116 7022116 G A LRRC23 Synonymous SNV E327E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.273 314009 chr12 69744023 69744023 C G rs776898103 LYZ Nonsynonymous SNV A91G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 18.88 314010 chr3 44905707 44905707 G A rs757773130 TMEM42 Nonsynonymous SNV V71I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 314011 chr2 169764316 169764316 C T rs773566412 G6PC2 Synonymous SNV V265V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 314012 chr2 170027120 170027120 G A rs754542131 LRP2 Nonsynonymous SNV S3774L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 314013 chr3 148562330 148562330 C A CPB1 Synonymous SNV V214V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 314014 chr3 148899865 148899865 C T CP Nonsynonymous SNV M827I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 314015 chr2 170850876 170850876 G T rs114753022 UBR3 Synonymous SNV P1276P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 314016 chr3 46400033 46400033 A G CCR2 Nonsynonymous SNV T339A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.254 314017 chr2 174783428 174783428 G A rs78928738 SP3 Synonymous SNV H507H 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.29 314018 chr15 60741933 60741933 G C rs200787694 ICE2 Synonymous SNV T274T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.882 314019 chr3 155200071 155200071 C T rs76519771 PLCH1 Synonymous SNV P1248P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 314020 chr15 62948180 62948182 AGG - TLN2 G186del 0 0.003 0 0 0 1 0 0 0 0 0 0 314021 chr3 167747678 167747678 C G rs151199047 GOLIM4 Synonymous SNV G413G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.714 314022 chr15 100271376 100271376 A G LYSMD4 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 314023 chr13 108955825 108955825 C T rs140291154 TNFSF13B Synonymous SNV Y187Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.278 314024 chr13 110435765 110435765 C G rs781697899 IRS2 Nonsynonymous SNV G879A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.101 314025 chr3 183525774 183525774 C A rs2290570 YEATS2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.057 314026 chr13 103390783 103390783 G A rs909574286 CCDC168 Synonymous SNV C4088C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.427 314027 chr13 103391357 103391357 T A rs375727559 CCDC168 Nonsynonymous SNV K3897I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.017 314028 chr2 190592627 190592627 G T rs757357867 ANKAR Nonsynonymous SNV R894L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 314029 chr3 151155195 151155195 C T IGSF10 Nonsynonymous SNV S412N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 314030 chr13 20717099 20717099 T C GJA3 Nonsynonymous SNV E110G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 314031 chr3 184910719 184910719 G A rs922036553 EHHADH Synonymous SNV Y393Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.189 314032 chr13 23905755 23905755 T C rs373478772 SACS Nonsynonymous SNV Y3940C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.8 314033 chr13 19759478 19759478 G A rs565702950 LOC101928697 0 0 0.003 0 0 0 0 1 0 0 0 0 1.019 314034 chr13 25842056 25842056 T A rs766196405 MTMR6 Synonymous SNV S55S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 314035 chr3 194790799 194790799 C G rs62290268 XXYLT1 Nonsynonymous SNV R130P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 314036 chr13 31233132 31233132 C T rs201983841 USPL1 Nonsynonymous SNV A644V 0 0 0.007 0 0 0 0 2 0 0 0 0 29.8 314037 chr13 38211289 38211289 A G rs35395094 TRPC4 Synonymous SNV G722G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.226 314038 chr4 100825036 100825038 TAA - DNAJB14 I220del 0.001 0 0 0 1 0 0 0 0 0 0 0 314039 chr13 39265833 39265833 G T rs768059632 FREM2 Nonsynonymous SNV S1451I 0 0 0.003 0 0 0 0 1 0 0 0 0 27 314040 chr13 39448670 39448670 T C rs77361941 FREM2 Nonsynonymous SNV V2743A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 314041 chr3 3072635 3072635 G T rs150478813 CNTN4 Nonsynonymous SNV A258S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.51 314042 chr15 90177028 90177028 G A rs35837280 KIF7 Synonymous SNV N827N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.25 314043 chr15 90189151 90189151 G A rs115857753 KIF7 Nonsynonymous SNV P632L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.011 314044 chr13 46652995 46652995 A G rs11574989 CPB2 Synonymous SNV D142D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.029 314045 chr13 46728989 46728989 A G rs761412346 LCP1 Nonsynonymous SNV I175T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 314046 chr13 46850923 46850923 G C rs74069665 LRRC63 Nonsynonymous SNV L583F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.901 314047 chr3 361487 361487 C G rs139673243 CHL1 Nonsynonymous SNV L10V 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 0.003 314048 chr3 38045780 38045780 C T rs75581902 VILL Synonymous SNV L411L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 314049 chr3 38592012 38592012 C A rs41315493 SCN5A Nonsynonymous SNV V1933L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 10.37 314050 chr15 93007443 93007443 C T rs199682795 ST8SIA2 Nonsynonymous SNV P298L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 314051 chr3 38768168 38768168 G C rs963394464 SCN10A Nonsynonymous SNV L908V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.18 314052 chr15 98512481 98512481 G A rs779312385 ARRDC4 Nonsynonymous SNV A252T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 314053 chr3 39227462 39227462 G A XIRP1 Nonsynonymous SNV L1159F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 314054 chr3 39229142 39229142 C T rs147045101 XIRP1 Nonsynonymous SNV E599K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 32 314055 chr3 41280827 41280827 C T rs2293303 CTNNB1 Synonymous SNV D780D 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 10.28 314056 chr13 84454563 84454563 G C rs200358682 SLITRK1 Nonsynonymous SNV N360K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 314057 chr3 42727982 42727982 A C rs74843241 KLHL40 Nonsynonymous SNV K291T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 314058 chr3 42738594 42738594 C T rs2290972 HHATL Synonymous SNV A303A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 314059 chr14 101455533 101455533 G C rs368097703 SNORD114-28 0 0 0.003 0 0 0 0 1 0 0 0 0 6.119 314060 chr14 103396922 103396922 C T AMN Nonsynonymous SNV R423W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 314061 chr14 102808359 102808359 A G rs767751406 ZNF839 Nonsynonymous SNV N760S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 314062 chr14 103602327 103602327 C T rs549968035 TNFAIP2 Nonsynonymous SNV A713V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.436 314063 chr3 44867936 44867938 AAA - KIF15 K924del 0.001 0 0 0 1 0 0 0 0 0 0 0 314064 chr16 599789 599789 G A rs772024178 CAPN15 Nonsynonymous SNV V673I 0 0 0 1 0 0 0.003 0 0 0 0 0 13 314065 chr16 450237 450237 C T rs776412880 NME4 Synonymous SNV S119S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.47 314066 chr3 45132921 45132921 G A rs75990347 CDCP1 Synonymous SNV S579S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 314067 chr14 20344642 20344642 T G rs200231235 OR4K2 Synonymous SNV S72S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.361 314068 chr3 47459937 47459937 C T rs201478816 SCAP Synonymous SNV P480P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 314069 chr16 1634267 1634267 G A rs199881467 IFT140 Nonsynonymous SNV A437V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.483 314070 chr3 47747928 47747928 T C rs752970152 SMARCC1 Synonymous SNV T337T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 314071 chr3 48668707 48668707 C T rs571879076 SLC26A6 Nonsynonymous SNV M205I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.513 314072 chr3 49331895 49331895 G C USP4 Nonsynonymous SNV P563A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 314073 chr4 15601314 15601314 G C rs375083236 CC2D2A Nonsynonymous SNV Q1553H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 314074 chr16 1967935 1967935 G C rs200310444 HS3ST6 Stop gain Y130X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 314075 chr3 49842783 49842783 G A rs2234390 UBA7 Synonymous SNV D999D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.166 314076 chr3 49933240 49933240 G A rs143096514 MST1R Nonsynonymous SNV T851M 0.001 0 0 0 1 0 0 0 0 0 0 0 1.57 314077 chr16 2313120 2313122 GTC - rs773318079 RNPS1 D109del 0 0.003 0 0 0 1 0 0 0 0 0 0 314078 chr3 50368091 50368091 T C rs12488879 RASSF1 Nonsynonymous SNV H164R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.2 314079 chr2 23918498 23918498 G A rs80308748 KLHL29 Synonymous SNV A516A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.429 314080 chr14 23103668 23103668 A G rs75056118 OR6J1 Nonsynonymous SNV S17P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 314081 chr2 241401687 241401687 G A rs777362324 GPC1 Synonymous SNV T135T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 314082 chr3 5244678 5244678 G A rs147838565 EDEM1 Nonsynonymous SNV D296N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 314083 chr14 23374450 23374450 G A rs778516935 RBM23 Synonymous SNV R159R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 314084 chr14 24046489 24046489 T A JPH4 Synonymous SNV G58G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.304 314085 chr14 24624840 24624840 A C rs200318503 RNF31 Nonsynonymous SNV E660A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 314086 chr14 24734905 24734905 C A rs199502413 RABGGTA Synonymous SNV L540L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 314087 chr2 242438485 242438485 G A STK25 Synonymous SNV N230N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 314088 chr4 184190193 184190193 G A rs576233774 WWC2 Synonymous SNV P759P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 314089 chr3 57108072 57108072 G C SPATA12 Nonsynonymous SNV S117T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 314090 chr14 33292104 33292104 C T rs144111045 AKAP6 Synonymous SNV D1695D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.962 314091 chr14 35550344 35550344 C T rs757634919 FAM177A1 Synonymous SNV S207S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 314092 chr2 25966824 25966824 T C rs113553608 ASXL2 Synonymous SNV S534S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.461 314093 chr11 66411578 66411578 A G RBM14-RBM4, RBM4 Nonsynonymous SNV D332G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 314094 chr3 63976489 63976489 G A rs74823804 ATXN7 Nonsynonymous SNV A401T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314095 chr2 27306591 27306591 G A rs371498868 EMILIN1 Nonsynonymous SNV G718S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 314096 chr4 2073995 2073995 C T rs759920925 POLN Nonsynonymous SNV R850H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 314097 chr14 50799404 50799404 C G rs780872652 CDKL1 Nonsynonymous SNV V269L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.622 314098 chr14 52481164 52481164 G A rs201129601 NID2 Synonymous SNV T1087T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.219 314099 chr3 77629200 77629200 C T rs188582283 ROBO2 Nonsynonymous SNV R811W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 314100 chr14 52520528 52520528 C T rs201147857 NID2 Nonsynonymous SNV D400N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 314101 chr14 52978046 52978046 G T TXNDC16 Nonsynonymous SNV T218N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 314102 chr14 53385953 53385953 G A rs371866046 FERMT2 Synonymous SNV T93T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 314103 chr4 2814147 2814147 C T SH3BP2 Nonsynonymous SNV T8I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 314104 chr3 97851892 97851892 G A rs5009897 OR5H1 Synonymous SNV T117T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.043 314105 chr14 62204833 62204833 G A rs1028149692 HIF1A Synonymous SNV E450E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 314106 chr14 62207708 62207708 T C rs201730640 HIF1A Nonsynonymous SNV M656T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.363 314107 chr16 30369889 30369889 G C rs141278869 TBC1D10B Synonymous SNV T601T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.443 314108 chr14 69814655 69814655 C T rs769803181 GALNT16 Nonsynonymous SNV T492I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.81 314109 chr2 47249054 47249054 C T rs955968971 TTC7A Synonymous SNV A128A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.21 314110 chr16 31073438 31073438 C T rs145902920 ZNF668 Nonsynonymous SNV E271K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 314111 chr4 106155924 106155924 T G rs533449541 TET2 Nonsynonymous SNV N275K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.302 314112 chr14 70990838 70990838 C T rs769906418 ADAM20 Nonsynonymous SNV V213M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 314113 chr16 46762934 46762934 A T MYLK3 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 314114 chr4 108853107 108853107 C T rs147506864 CYP2U1 Nonsynonymous SNV P103L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.18 314115 chr11 88242324 88242324 C T GRM5 Synonymous SNV L993L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 314116 chr14 75513326 75513326 A G rs760200108 MLH3 Synonymous SNV D1011D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 314117 chr4 115544777 115544777 A G rs4148255 UGT8 Synonymous SNV A247A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 314118 chr4 115589441 115589441 A G rs148890217 UGT8 Nonsynonymous SNV K415E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 314119 chr14 91739187 91739187 G A rs542728730 CCDC88C Nonsynonymous SNV R1957W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 314120 chr2 71212303 71212303 G T rs781952405 ANKRD53 Nonsynonymous SNV G489V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 314121 chr2 71221835 71221835 A G TEX261 Nonsynonymous SNV F18S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 314122 chr4 128842876 128842876 C G rs11098943 MFSD8 Nonsynonymous SNV G280R 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 6.644 314123 chr14 94732219 94732219 T G rs200599777 PPP4R4 Nonsynonymous SNV C710W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 314124 chr14 93275693 93275693 C T rs761644011 GOLGA5 Nonsynonymous SNV S274L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 314125 chr16 67038725 67038725 G A rs115953428 CES4A Synonymous SNV A272A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.869 314126 chr14 94955962 94955962 C T rs771051066 SERPINA12 Nonsynonymous SNV G350S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 314127 chr14 93483066 93483066 G A rs143456829 ITPK1 Synonymous SNV A67A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 314128 chr4 144359605 144359605 T C rs201285291 GAB1 Synonymous SNV H349H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.79 314129 chr4 144618119 144618119 C T rs185641600 FREM3 Nonsynonymous SNV R1237Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.248 314130 chr4 147560458 147560460 GGC - rs746013278 POU4F2 G68del 0.001 0 0 0 1 0 0 0 0 0 0 0 314131 chr4 147560460 147560460 - GGC POU4F2 G68_R69insG 0.001 0 0 0 1 0 0 0 0 0 0 0 314132 chr14 96797782 96797782 C T rs900588550 ATG2B Nonsynonymous SNV R554K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.809 314133 chr14 96798736 96798736 A G rs150217141 ATG2B Synonymous SNV T458T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.712 314134 chr14 95590611 95590611 T C DICER1 Nonsynonymous SNV N433S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.619 314135 chr4 152069090 152069090 A G rs78397848 SH3D19 Nonsynonymous SNV L373P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 314136 chr4 152212475 152212475 T C rs117303916 PRSS48 Nonsynonymous SNV L286P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 314137 chr4 152609784 152609784 C T rs75029272 GATB Synonymous SNV E443E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 314138 chr4 153574072 153574072 A G TMEM154 Synonymous SNV Y24Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 314139 chr14 96798878 96798878 T C rs371850612 ATG2B Nonsynonymous SNV Y441C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 314140 chr4 114823493 114823493 - T rs764118577 ARSJ Frameshift insertion K580Efs*11 0.001 0 0 0 1 0 0 0 0 0 0 0 314141 chr4 154626402 154626402 G A rs5743709 TLR2 Synonymous SNV A781A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.068 314142 chr15 101606011 101606011 G A rs749481480 LRRK1 Nonsynonymous SNV R1790Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.263 314143 chr15 102345982 102345982 G A rs375136130 OR4F6 Synonymous SNV S20S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.523 314144 chr15 101567500 101567500 G A rs200114885 LRRK1 Nonsynonymous SNV G814R 0 0 0.003 0 0 0 0 1 0 0 0 0 28 314145 chr16 74729395 74729397 CCT - rs781360525 MLKL R87del 0 0.003 0 0 0 1 0 0 0 0 0 0 314146 chr16 75646300 75646300 C T rs780177665 ADAT1 Nonsynonymous SNV R208H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.15 314147 chr11 117280356 117280356 C T rs918177071 CEP164 Synonymous SNV T1252T 0 0.003 0 1 0 1 0.003 0 0 0 0 0 8.755 314148 chr16 79245594 79245594 C T rs780939546 WWOX Synonymous SNV C269C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.76 314149 chr4 128949669 128949669 T C ABHD18 Nonsynonymous SNV F120L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.024 314150 chr4 173852389 173852389 C T rs187369867 GALNTL6 Synonymous SNV Y373Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.6 314151 chr3 105271362 105271362 G A rs956208012 ALCAM Nonsynonymous SNV V520I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 314152 chr4 17581449 17581449 C T rs139223671 LAP3 Synonymous SNV G35G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 314153 chr4 177116591 177116591 G A rs780073091 SPATA4 Synonymous SNV V41V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 314154 chr16 83932973 83932973 A T rs745379940 MLYCD Nonsynonymous SNV Y75F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 314155 chr4 15004494 15004522 CCGTCCCCCTCGGCGGCGGCGCGGGCAGC - CPEB2 V67Gfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 314156 chr4 88035977 88035977 C T rs766200337 AFF1 Synonymous SNV N295N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.86 314157 chr15 42041777 42041777 A G rs746785834 MGA Nonsynonymous SNV K1782R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.387 314158 chr4 155487045 155487045 G C rs371842822 FGB Nonsynonymous SNV S67T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.24 314159 chr4 187584736 187584736 A G rs1015789328 FAT1 Synonymous SNV R1099R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.033 314160 chr15 42700420 42700420 C T rs144383704 CAPN3 Synonymous SNV F92F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.38 314161 chr5 10650037 10650037 G A ANKRD33B Nonsynonymous SNV A433T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 314162 chr4 2306575 2306575 C T rs574021846 ZFYVE28 Nonsynonymous SNV A468T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 314163 chr16 88780817 88780817 C T CTU2 Nonsynonymous SNV P288L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 314164 chr3 121134709 121134709 G A rs13094925 STXBP5L Nonsynonymous SNV M1040I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 314165 chr15 50264987 50264987 A C ATP8B4 Nonsynonymous SNV S345R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 314166 chr4 25915957 25915957 G A rs4521339 SMIM20 Nonsynonymous SNV A8T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 314167 chr5 112926911 112926911 A G YTHDC2 Synonymous SNV V1033V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.61 314168 chr4 3009536 3009536 C T rs117478149 GRK4 Stop gain Q141X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 47 314169 chr4 3076615 3076615 - CAGCAGCAGCAG HTT Q38_P39insQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 314170 chr4 3132059 3132059 A G rs532096335 HTT Nonsynonymous SNV N632S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 314171 chr15 56387049 56387049 G A rs768524801 RFX7 Synonymous SNV T862T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.882 314172 chr15 56387052 56387052 T A rs776397796 RFX7 Synonymous SNV P861P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 314173 chr15 56387058 56387058 A G rs373912380 RFX7 Synonymous SNV P859P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 314174 chr15 56387061 56387061 A T rs759702727 RFX7 Synonymous SNV T858T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 314175 chr15 52901356 52901356 C T rs111393734 FAM214A Synonymous SNV Q592Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.982 314176 chr15 56388536 56388536 C T rs771269131 RFX7 Nonsynonymous SNV A367T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 314177 chr15 56736015 56736015 G A rs185005213 MNS1 Stop gain R242X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 314178 chr15 59463436 59463436 T C rs537360898 MIR2116 0 0 0.003 0 0 0 0 1 0 0 0 0 1.608 314179 chr4 37447211 37447211 C G rs147929906 NWD2 Nonsynonymous SNV Q1201E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 314180 chr15 60720702 60720702 G T rs759573972 ICE2 Nonsynonymous SNV P779T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 314181 chr16 89764488 89764488 G T SPATA2L Nonsynonymous SNV L177M 0 0.003 0 0 0 1 0 0 0 0 0 0 18.68 314182 chr4 38930893 38930893 G A rs2306923 FAM114A1 Nonsynonymous SNV R160H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 314183 chr15 62277084 62277084 A T rs141515062 VPS13C Nonsynonymous SNV S522T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.512 314184 chr17 1416842 1416842 T A INPP5K Nonsynonymous SNV N56Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 314185 chr17 1540345 1540345 T C rs543870820 SCARF1 Nonsynonymous SNV D459G 0 0.003 0 0 0 1 0 0 0 0 0 0 12.37 314186 chr15 65960320 65960320 A C rs755231924 DENND4A Synonymous SNV T1599T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 314187 chr4 47565762 47565762 A G ATP10D Nonsynonymous SNV I945V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.938 314188 chr15 69238224 69238224 A G rs999999822 SPESP1 Synonymous SNV E117E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 314189 chr4 48581089 48581089 T C rs75542681 FRYL Nonsynonymous SNV K810R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.46 314190 chr4 4861712 4861712 C T rs530217423 MSX1 Nonsynonymous SNV A29V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.79 314191 chr4 49052722 49052722 C T rs142768963 CWH43 Nonsynonymous SNV A599V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 27.7 314192 chr4 56766050 56766050 T C rs139881751 EXOC1 Synonymous SNV N764N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.014 314193 chr17 17699359 17699359 C T rs749315193 RAI1 Nonsynonymous SNV P1033S 0.001 0 0 0 1 0 0 0 0 0 0 0 11 314194 chr4 57344588 57344588 A G rs138986942 SRP72 Nonsynonymous SNV H229R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.33 314195 chr15 77473749 77473749 C T rs747115551 PEAK1 Nonsynonymous SNV E174K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 314196 chr5 140308854 140308854 A G rs138062218 PCDHAC1 Nonsynonymous SNV I793V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.884 314197 chr17 4883557 4883557 T C rs143362209 CAMTA2 Nonsynonymous SNV M356V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 314198 chr4 68784885 68784885 C A rs138567771 TMPRSS11A Nonsynonymous SNV R253I 0.001 0 0 0 1 0 0 0 0 0 0 0 33 314199 chr4 71232369 71232369 G A rs149268035 SMR3A Synonymous SNV E21E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.492 314200 chr4 73931027 73931027 T C rs913876171 COX18 Nonsynonymous SNV M183V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.569 314201 chr4 73957674 73957674 C A ANKRD17 Nonsynonymous SNV A1640S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 314202 chr3 160803771 160803771 C G rs183787251 B3GALNT1 Nonsynonymous SNV G258R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 314203 chr15 91308616 91308616 A G BLM Nonsynonymous SNV D722G 0 0 0.003 0 0 0 0 1 0 0 0 0 31 314204 chr3 158541315 158541315 G C rs79454905 MFSD1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 314205 chr17 28616428 28616428 A T rs763201851 BLMH Nonsynonymous SNV F95Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 314206 chr3 170715835 170715835 G C rs5397 SLC2A2 Nonsynonymous SNV L359V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.472 314207 chr3 172236218 172236218 T C TNFSF10 Nonsynonymous SNV Q57R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.455 314208 chr5 154251410 154251410 G C rs766348660 CNOT8 Synonymous SNV L92L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.326 314209 chr4 62813863 62813863 T C rs972360185 ADGRL3 Nonsynonymous SNV S806P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 314210 chr17 10222213 10222213 A G rs143068181 MYH13 Nonsynonymous SNV I1211T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 314211 chr17 10541402 10541402 G A rs778389007 MYH3 Synonymous SNV I1229I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.327 314212 chr16 1576742 1576742 C T rs766515079 IFT140 Nonsynonymous SNV V819M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 314213 chr16 1720768 1720768 G A rs201262650 CRAMP1 Synonymous SNV S1201S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 314214 chr17 16024438 16024438 C T rs775669544 NCOR1 Nonsynonymous SNV A485T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 314215 chr5 170883781 170883781 G A rs763585537 FGF18 Nonsynonymous SNV R199H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 314216 chr5 176731740 176731740 A G rs529728091 PRELID1 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.833 314217 chr3 195460045 195460045 G A rs202056744 MUC20 Nonsynonymous SNV A696T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.08 314218 chr5 115319108 115319108 T G rs577955046 LVRN Nonsynonymous SNV S274A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 314219 chr16 28877480 28877480 C A rs749598219 SH2B1 Nonsynonymous SNV P22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 314220 chr16 28913295 28913295 G A rs769732457 ATP2A1 Nonsynonymous SNV D613N 0 0 0.003 0 0 0 0 1 0 0 0 0 26 314221 chr16 28946769 28946769 A G rs375531253 CD19 Synonymous SNV L280L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.504 314222 chr5 179025796 179025796 C A rs759934940 RUFY1 Nonsynonymous SNV L471M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 314223 chr3 197427917 197427917 G C rs200274445 RUBCN Synonymous SNV P216P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 314224 chr5 179758533 179758533 C T GFPT2 Nonsynonymous SNV G121R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314225 chr12 51685650 51685650 G T BIN2 Nonsynonymous SNV P360T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 314226 chr16 31289311 31289311 C T rs747862561 ITGAM Nonsynonymous SNV R413W 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 314227 chr5 131726443 131726443 A C SLC22A5 Nonsynonymous SNV I372L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 314228 chr16 31373207 31373207 G T ITGAX Nonsynonymous SNV G355C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 314229 chr16 3197328 3197328 C T rs932878416 CASP16P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.01 314230 chr5 134705228 134705228 C T rs569509844 MACROH2A1 Synonymous SNV A115A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 314231 chr16 335194 335194 C T rs757507312 PDIA2 Synonymous SNV N263N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.718 314232 chr17 29119582 29119588 CTGTCCA - CRLF3 W277Lfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 314233 chr4 984110 984110 T C rs746034907 SLC26A1 Nonsynonymous SNV Y206C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 314234 chr3 35770867 35770867 C T ARPP21 Nonsynonymous SNV P379L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 314235 chr16 3632621 3632621 A G rs984137258 SLX4 Nonsynonymous SNV S1743P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 314236 chr17 33266705 33266705 G A rs781328208 CCT6B Synonymous SNV A295A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.67 314237 chr5 137655041 137655041 C T CDC25C Nonsynonymous SNV S88N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.092 314238 chr16 4412082 4412082 G A rs768600317 CORO7, CORO7-PAM16 Synonymous SNV N409N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 314239 chr16 46771658 46771658 G A MYLK3 Synonymous SNV A322A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.438 314240 chr16 4802689 4802689 G A rs377682454 ZNF500 Synonymous SNV G377G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 314241 chr3 39543999 39543999 G A rs185064368 MOBP Synonymous SNV P84P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 314242 chr16 49551746 49551746 C T rs9939835 ADAM3B 0 0 0.014 0 0 0 0 4 0 0 2 0 5.231 314243 chr16 52473564 52473564 G A rs146046759 TOX3 Nonsynonymous SNV S435L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 314244 chr3 43073843 43073843 G A rs143001418 GASK1A Nonsynonymous SNV V30I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.713 314245 chr17 38643541 38643541 G T TNS4 Synonymous SNV P345P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.957 314246 chr16 56401439 56401439 G A rs202074356 AMFR Nonsynonymous SNV R506W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 314247 chr16 54319839 54319839 C G IRX3 Nonsynonymous SNV E42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.746 314248 chr5 140769054 140769054 C G rs997165354 PCDHGB4 Nonsynonymous SNV Q535E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 314249 chr3 44685501 44685501 G C ZNF197, ZNF660-ZNF197 Nonsynonymous SNV C747S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 314250 chr16 57060775 57060775 C G rs367891230 NLRC5 Synonymous SNV P640P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.123 314251 chr17 39296360 39296360 - GCCTGCAGC KRTAP4-6 S127delinsCCRP 0 0.003 0 0 0 1 0 0 0 0 0 0 314252 chr17 39296363 39296363 - TGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCAGCAGCTGGGGCGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGGGCT KRTAP4-6 C125_R126insKPQCCQSVCCQPTCCRPSCCISSCCRPSCCVS 0 0.003 0 0 0 1 0 0 0 0 0 0 314253 chr16 57795033 57795033 G A rs149165525 KIFC3 Synonymous SNV N539N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 314254 chr17 39504818 39504818 G A rs9905471 KRT33A Synonymous SNV L169L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.005 314255 chr17 39538280 39538280 C T rs61740672 KRT34 Synonymous SNV K115K 0 0.003 0 0 0 1 0 0 0 0 0 0 8.624 314256 chr16 65016173 65016173 C G rs201648775 CDH11 Nonsynonymous SNV S218T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.513 314257 chr16 66420975 66420975 G A rs757664765 CDH5 Synonymous SNV A158A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.532 314258 chr3 47045334 47045334 C T rs375488776 NBEAL2 Nonsynonymous SNV R1883C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 314259 chr3 47162500 47162500 A C SETD2 Nonsynonymous SNV F1165C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 314260 chr5 146030225 146030225 G A rs139422809 PPP2R2B Synonymous SNV N173N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 314261 chr3 4747976 4747976 C T rs373619512 ITPR1 Nonsynonymous SNV R1580C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 314262 chr5 146773682 146773682 G A rs3792837 DPYSL3 Synonymous SNV T657T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.939 314263 chr5 146798035 146798035 G A rs17106709 DPYSL3 Synonymous SNV A210A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 314264 chr3 48719134 48719134 G A NCKIPSD Synonymous SNV L226L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 314265 chr16 70531202 70531202 C T rs200052272 COG4 Nonsynonymous SNV R464Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 314266 chr16 70513090 70513090 G A rs200422096 FCSK Synonymous SNV L979L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 314267 chr17 39925361 39925361 G A rs35297577 JUP Synonymous SNV V189V 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 13.8 314268 chr5 137475829 137475829 T C rs759769084 BRD8 Synonymous SNV R1214R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.033 314269 chr5 137780167 137780167 G A REEP2 Synonymous SNV K82K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 314270 chr5 149515314 149515314 A T rs532483221 PDGFRB Synonymous SNV G56G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.65 314271 chr5 149900856 149900856 G A rs377262041 NDST1 Nonsynonymous SNV V14M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 314272 chr16 72992506 72992506 G A rs756844786 ZFHX3 Synonymous SNV A513A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.532 314273 chr5 149907481 149907481 C T rs767336817 NDST1 Nonsynonymous SNV T210M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 314274 chr3 51746786 51746786 T - GRM2 F250Lfs*229 0.001 0 0 0 1 0 0 0 0 0 0 0 314275 chr16 75564106 75564106 G A rs371668265 CHST5 Synonymous SNV G59G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.647 314276 chr3 52546361 52546361 C T STAB1 Nonsynonymous SNV T963I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 314277 chr5 158134596 158134596 G T rs112647753 EBF1 Nonsynonymous SNV P539Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20 314278 chr16 84494318 84494318 G C ATP2C2 Nonsynonymous SNV D647H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 314279 chr5 167420024 167420024 A T rs557069135 TENM2 Synonymous SNV S150S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.989 314280 chr5 145613191 145613191 G A rs199892617 RBM27 Synonymous SNV P343P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.737 314281 chr5 82833689 82833689 A G VCAN Nonsynonymous SNV T636A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.884 314282 chr5 171520790 171520790 G C rs114771940 STK10 Nonsynonymous SNV P394A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 314283 chr17 48695650 48695650 C T CACNA1G Synonymous SNV A1757A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.31 314284 chr5 176022664 176022664 G A rs541631603 CDHR2 Synonymous SNV T1308T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.223 314285 chr5 176824879 176824879 G C SLC34A1 Synonymous SNV L504L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.233 314286 chr17 56247096 56247096 T C rs1030449672 OR4D2 Nonsynonymous SNV L27P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 314287 chr16 88798827 88798827 G A rs754595848 PIEZO1 Synonymous SNV S969S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.338 314288 chr17 56435456 56435456 G A rs756000629 RNF43 Nonsynonymous SNV R434W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 314289 chr5 149516607 149516607 G A rs148272095 PDGFRB Nonsynonymous SNV R2W 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 314290 chr5 177562240 177562240 G A rs763408817 RMND5B Synonymous SNV P9P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.356 314291 chr5 178392925 178392925 A G ZNF454 Nonsynonymous SNV Q507R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 314292 chr17 58144874 58144874 T G rs761420683 HEATR6 Nonsynonymous SNV S387R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.55 314293 chr4 100774394 100774394 A G rs775717540 DAPP1 Synonymous SNV K126K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.977 314294 chr6 106960048 106960048 G A CRYBG1 Synonymous SNV A352A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 314295 chr5 179498529 179498529 G A rs201475396 RNF130 Synonymous SNV R58R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 314296 chr16 89351531 89351531 G A rs200455505 ANKRD11 Synonymous SNV S473S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.178 314297 chr16 89924784 89924784 G A rs145719560 SPIRE2 Nonsynonymous SNV G381R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 314298 chr16 90110369 90110369 T C rs150177215 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 314299 chr17 10205012 10205012 C T rs369450938 MYH13 Synonymous SNV Q1892Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 314300 chr16 90046734 90046734 G A rs188080916 AFG3L1P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 314301 chr5 180486622 180486622 G T rs770024119 BTNL9 Nonsynonymous SNV E456D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.644 314302 chr17 62137875 62137875 C T rs185298285 ERN1 Nonsynonymous SNV R387Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 314303 chr5 180486631 180486631 G C BTNL9 Nonsynonymous SNV E459D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.895 314304 chr4 106861764 106861764 G C rs141847563 NPNT Nonsynonymous SNV G245A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 314305 chr6 109900788 109900788 C T rs552477090 AK9 Nonsynonymous SNV R719Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.208 314306 chr17 11726264 11726264 C T rs767626848 DNAH9 Synonymous SNV S3053S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 314307 chr5 2755167 2755167 G C C5orf38 Nonsynonymous SNV V120L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.185 314308 chr12 109690959 109690959 C G ACACB Nonsynonymous SNV P2014R 0 0 0 1 0 0 0.003 0 0 0 0 0 31 314309 chr17 65955832 65955832 C T rs147034943 BPTF Nonsynonymous SNV T2701M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 314310 chr12 111800812 111800812 C T rs761566107 PHETA1 Synonymous SNV Q140Q 0 0 0 1 0 0 0.003 0 0 0 0 0 3.907 314311 chr4 114279791 114279791 G A rs774143296 ANK2 Synonymous SNV A3339A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.551 314312 chr5 35641619 35641619 A G rs139855000 SPEF2 Nonsynonymous SNV H83R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 314313 chr5 36975956 36975956 T C NIPBL Nonsynonymous SNV L316P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.3 314314 chr17 18137336 18137336 C T rs374218881 LLGL1 Synonymous SNV D187D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 314315 chr17 72608834 72608834 G C CD300E Synonymous SNV V192V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.119 314316 chr4 126241869 126241869 A G rs142747281 FAT4 Nonsynonymous SNV I1435V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.334 314317 chr5 454028 454028 C G rs143939660 EXOC3 Nonsynonymous SNV P303R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.1 314318 chr17 20108476 20108476 T A rs202164673 SPECC1 Nonsynonymous SNV S291T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 314319 chr5 488590 488590 G A rs148195510 SLC9A3 Synonymous SNV G172G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.017 314320 chr5 50091162 50091162 G A rs182814465 PARP8 Nonsynonymous SNV E447K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.12 314321 chr4 130023817 130023817 C T C4orf33 Nonsynonymous SNV P18S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 314322 chr17 19835157 19835157 A C rs562498114 AKAP10 Nonsynonymous SNV D534E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 314323 chr17 73751812 73751812 C T rs140575355 ITGB4 Nonsynonymous SNV T1513M 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 33 314324 chr17 74581773 74581773 C T ST6GALNAC2 Nonsynonymous SNV G40R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.433 314325 chr5 60050467 60050467 T C rs570407523 ELOVL7 Nonsynonymous SNV K277R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.29 314326 chr17 26108203 26108203 C T rs989207212 NOS2 Synonymous SNV R241R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 314327 chr4 152499070 152499070 G A rs868550454 FAM160A1 Nonsynonymous SNV A192T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 314328 chr17 27286752 27286752 C T SEZ6 Nonsynonymous SNV D579N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 314329 chr17 76129995 76129995 G A rs142161296 TMC8 Nonsynonymous SNV A244T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.142 314330 chr17 76201690 76201690 C T AFMID Synonymous SNV D217D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.63 314331 chr17 263191 263191 T G C17orf97 Nonsynonymous SNV I186S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 314332 chr17 30226728 30226728 G A rs139107049 UTP6 Synonymous SNV S38S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.534 314333 chr5 71494694 71494694 T C rs139319889 MAP1B Nonsynonymous SNV F1712L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.15 314334 chr5 71519675 71519675 G A rs11557156 MRPS27 Synonymous SNV L224L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.269 314335 chr17 32953348 32953348 C A TMEM132E Synonymous SNV L90L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 314336 chr12 129399505 129399505 T G rs539122077 GLT1D1 Nonsynonymous SNV F105C 0 0 0 1 0 0 0.003 0 0 0 0 0 8.393 314337 chr5 74807116 74807116 C T rs5744539 CERT1 Nonsynonymous SNV D101N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 26.5 314338 chr5 37224707 37224707 T C rs886038681 CPLANE1 Synonymous SNV L809L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.505 314339 chr5 75893345 75893345 A C rs929388707 IQGAP2 Nonsynonymous SNV E280A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 314340 chr5 75932971 75932971 A G rs138758867 IQGAP2 Synonymous SNV K184K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 314341 chr6 157099403 157099411 CAGCAGCAG - rs777729182 ARID1B Q129_Q131del 0.001 0 0 0 1 0 0 0 0 0 0 0 314342 chr4 175252660 175252660 T C rs372688293 CEP44 Nonsynonymous SNV S372P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.029 314343 chr5 78181569 78181569 C T rs772017949 ARSB Nonsynonymous SNV R327Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 314344 chr17 79359001 79359001 G A LOC100130370 0 0.003 0 0 0 1 0 0 0 0 0 0 4.881 314345 chr17 34869499 34869499 G T rs750777727 MYO19 Nonsynonymous SNV L264M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 314346 chr17 35444323 35444323 C A ACACA Synonymous SNV T2265T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 314347 chr5 79031080 79031080 G A rs202038690 CMYA5 Synonymous SNV P2164P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.041 314348 chr13 21361728 21361728 C T rs748295299 XPO4 Synonymous SNV S1019S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.67 314349 chr5 54570751 54570751 A G rs759528385 DHX29 Nonsynonymous SNV Y788H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.06 314350 chr5 55195891 55195891 A G rs558939244 IL31RA Nonsynonymous SNV M315V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 314351 chr17 38079445 38079445 C G rs769807472 ORMDL3 Synonymous SNV L82L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 314352 chr18 3116450 3116450 G A rs1028776972 MYOM1 Nonsynonymous SNV P965L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 314353 chr5 6651981 6651981 G A SRD5A1 Nonsynonymous SNV R107Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314354 chr4 20568894 20568894 A C SLIT2 Nonsynonymous SNV D908A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 314355 chr18 5890888 5890888 C G TMEM200C Nonsynonymous SNV G392A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.27 314356 chr6 109769572 109769572 C T MICAL1 Synonymous SNV L477L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 314357 chr4 2965842 2965842 G C rs753340331 GRK4 Synonymous SNV A15A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.448 314358 chr17 39644612 39644612 G - rs777802885 KRT36 D195Tfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 314359 chr6 26235139 26235139 G A rs200922448 H1-3 Nonsynonymous SNV A8V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 314360 chr17 3967852 3967852 G A rs781834 ZZEF1 Synonymous SNV D1507D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.365 314361 chr17 39725768 39725768 A T KRT9 Nonsynonymous SNV D318E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 314362 chr6 117724316 117724316 G A ROS1 Nonsynonymous SNV T188I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 314363 chr5 79029821 79029821 A G rs202222773 CMYA5 Nonsynonymous SNV T1745A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.656 314364 chr6 12163575 12163575 G A rs61731759 HIVEP1 Synonymous SNV A2346A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.082 314365 chr18 21242694 21242694 T C ANKRD29 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 8.68 314366 chr18 21526250 21526253 TAAA - LAMA3 0 0 0 1 0 0 0.003 0 0 0 0 0 314367 chr4 44693774 44693774 A G GUF1 Nonsynonymous SNV D200G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 314368 chr4 46967060 46967060 T C rs758912875 GABRA4 Nonsynonymous SNV K284R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 314369 chr17 41454918 41454918 C T rs191160668 LINC00910 0 0 0.003 0 0 0 0 1 0 0 0 0 8.032 314370 chr17 45681409 45681409 C T NPEPPS Synonymous SNV F623F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 314371 chr5 89970013 89970013 C T rs146954342 ADGRV1 Nonsynonymous SNV T1691M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 29 314372 chr18 44140378 44140378 G A rs534815867 LOXHD1 Nonsynonymous SNV P910L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.87 314373 chr5 90103552 90103552 C A rs368420512 ADGRV1 Synonymous SNV L4990L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.19 314374 chr18 31320334 31320334 G A rs764709254 ASXL3 Nonsynonymous SNV R989Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.9 314375 chr13 66878892 66878892 G A rs143343055 PCDH9 Synonymous SNV G1127G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.872 314376 chr18 32391956 32391956 T C rs199960642 DTNA Nonsynonymous SNV V161A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 15.43 314377 chr6 135265052 135265052 C T rs200812012 ALDH8A1 Nonsynonymous SNV R64H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 314378 chr17 47109318 47109318 C T IGF2BP1 Synonymous SNV N128N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 314379 chr17 48149450 48149450 C T rs549115710 ITGA3 Nonsynonymous SNV P354S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 314380 chr18 51820745 51820745 C A POLI Nonsynonymous SNV Q590K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.15 314381 chr17 48598526 48598526 T G MYCBPAP Nonsynonymous SNV F339L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 314382 chr17 51900502 51900502 C T KIF2B Synonymous SNV R36R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.848 314383 chr6 151054892 151054892 T C rs144124479 PLEKHG1 Synonymous SNV H84H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.387 314384 chr4 667134 667134 T G rs147287885 ATP5ME Nonsynonymous SNV K50Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 314385 chr17 48433971 48433971 C G rs147847688 XYLT2 Nonsynonymous SNV P528A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.604 314386 chr13 103386835 103386835 G A CCDC168 Synonymous SNV N5404N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.216 314387 chr4 69100196 69100196 A G rs141993915 TMPRSS11B Nonsynonymous SNV S152P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 314388 chr18 61261605 61261605 G A rs199653578 SERPINB13 Synonymous SNV L27L 0.001 0.003 0.003 0 1 1 0 1 0 0 0 0 8.65 314389 chr17 55072931 55072931 G A rs16957938 SCPEP1 Nonsynonymous SNV V241I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 314390 chr17 56388028 56388028 C T rs375217529 TSPOAP1 Nonsynonymous SNV A1122T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 314391 chr6 42203973 42203973 G A rs140751252 TRERF1 Synonymous SNV S1032S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.69 314392 chr6 114378789 114378789 T G rs138458938 HS3ST5 Nonsynonymous SNV K225Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 314393 chr18 56892914 56892914 G T rs55796466 GRP Synonymous SNV S110S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.271 314394 chr6 43156325 43156325 C T rs141369784 CUL9 Synonymous SNV V684V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 314395 chr18 72185847 72185847 C T rs143480659 CNDP2 Synonymous SNV Y310Y 0 0.003 0 0 0 1 0 0 0 0 0 0 6.686 314396 chr6 43333037 43333037 T C rs768400818 ZNF318 Nonsynonymous SNV M181V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 314397 chr6 43745322 43745322 C T rs769625979 VEGFA Nonsynonymous SNV P259S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 314398 chr17 61622973 61622973 C T rs143517235 KCNH6 Nonsynonymous SNV P863S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.983 314399 chr17 62488845 62488845 G A rs61751984 POLG2 Nonsynonymous SNV P245L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.86 314400 chr6 160467631 160467631 G C rs545812110 IGF2R Nonsynonymous SNV V669L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.64 314401 chr17 63010797 63010797 C T rs749049765 GNA13 Nonsynonymous SNV D143N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 314402 chr6 166873038 166873038 G A rs78598590 RPS6KA2 Nonsynonymous SNV T227M 0.001 0 0 0 1 0 0 0 0 0 0 0 21 314403 chr6 168370548 168370548 A C rs180878794 AFDN Nonsynonymous SNV D1722A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 314404 chr6 52268086 52268086 C T rs146353145 PAQR8 Synonymous SNV I25I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 314405 chr6 17637989 17637989 G A rs372868015 NUP153 Nonsynonymous SNV P578L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 314406 chr19 1231040 1231040 G A CBARP Nonsynonymous SNV P405L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.459 314407 chr6 64776300 64776300 G A rs573446748 EYS Nonsynonymous SNV S2219F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 314408 chr19 1789385 1789385 A C rs200289706 ATP8B3 Synonymous SNV G903G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.144 314409 chr6 24875993 24875993 C G rs2295197 RIPOR2 Synonymous SNV S38S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.61 314410 chr17 72926965 72926965 C G rs751207230 OTOP2 Nonsynonymous SNV A412G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 314411 chr19 2255219 2255219 T G rs764976793 JSRP1 Nonsynonymous SNV E32A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 314412 chr6 26104217 26104217 T C rs147057053 H4C3 Synonymous SNV G14G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.486 314413 chr17 73498305 73498305 C T rs767996133 CASKIN2 Synonymous SNV L868L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 314414 chr17 73498328 73498328 G T rs199928186 CASKIN2 Synonymous SNV R861R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.825 314415 chr5 112389629 112389629 G A rs202122201 MCC Synonymous SNV C557C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.131 314416 chr6 154587045 154587045 C G IPCEF1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 314417 chr17 73805883 73805883 G A UNK Synonymous SNV V49V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 314418 chr17 74081808 74081808 G A rs766161397 EXOC7 Synonymous SNV S491S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 314419 chr19 4174940 4174940 G A rs201886868 SIRT6 Nonsynonymous SNV R149C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.6 314420 chr6 33650325 33650325 C T rs549727335 ITPR3 Synonymous SNV L1501L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 314421 chr6 33665458 33665458 T C rs34628420 UQCC2 Nonsynonymous SNV K118R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.002 314422 chr17 74772594 74772594 C T MFSD11 Nonsynonymous SNV P334S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 314423 chr6 87928434 87928434 T C rs769385024 ZNF292 Synonymous SNV L175L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.472 314424 chr6 166918058 166918058 G A RPS6KA2 Synonymous SNV L70L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.16 314425 chr7 100137013 100137013 T C AGFG2 Nonsynonymous SNV V15A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.42 314426 chr17 78063948 78064075 GAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCAC - CCDC40 Q951Rfs*100 0 0 0.003 0 0 0 0 1 0 0 0 0 314427 chr6 42075168 42075168 G A rs575254470 C6orf132 Nonsynonymous SNV S161L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.298 314428 chr17 78091482 78091482 G A rs150536507 GAA Synonymous SNV V805V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.87 314429 chr14 51111618 51111618 T C rs759863243 SAV1 Nonsynonymous SNV Y217C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 314430 chr17 78403846 78403846 G A rs957991158 ENDOV Nonsynonymous SNV A282T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.343 314431 chr19 7594511 7594511 C T rs147754092 MCOLN1 Synonymous SNV S424S 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.26 314432 chr6 43403848 43403848 G C rs146946761 ABCC10 Nonsynonymous SNV A552P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.863 314433 chr6 44222718 44222718 G C rs3734707 SLC35B2 Nonsynonymous SNV L209V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.752 314434 chr17 79279097 79279097 G A rs541176910 LINC00482 0 0 0.003 0 0 0 0 1 0 0 0 0 3.925 314435 chr19 8321533 8321533 T C CERS4 Nonsynonymous SNV L184P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 314436 chr17 79503209 79503209 C T rs774101992 FSCN2 Nonsynonymous SNV R341W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 314437 chr6 46135947 46135947 G T ENPP5 Stop gain S18X 0.001 0 0 0 1 0 0 0 0 0 0 0 26 314438 chr17 80361818 80361818 C T OGFOD3 Nonsynonymous SNV D232N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 314439 chr6 46993653 46993653 A G rs142236306 ADGRF1 Synonymous SNV L72L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.62 314440 chr17 8133254 8133254 G A rs747768138 CTC1 Nonsynonymous SNV S989F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 314441 chr6 47846149 47846149 G A PTCHD4 Nonsynonymous SNV P811S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 314442 chr17 814011 814011 G A rs567039602 LOC101927727 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 314443 chr6 52995691 52995691 C T rs76623467 GCM1 Synonymous SNV K160K 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 12.98 314444 chr6 55923967 55923967 G A rs185079637 COL21A1 Synonymous SNV P292P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.19 314445 chr19 9061122 9061122 G T rs746792190 MUC16 Nonsynonymous SNV T8775N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 314446 chr6 656590 656590 C G rs202166658 HUS1B Nonsynonymous SNV V119L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.42 314447 chr6 66115112 66115112 T C rs544765237 EYS Synonymous SNV S337S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.229 314448 chr18 2760726 2760730 AACAG - SMCHD1 Stop gain N1475* 0 0 0.003 0 0 0 0 1 0 0 0 0 314449 chr18 2760731 2760731 - GA SMCHD1 Frameshift insertion Q1478Nfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 314450 chr6 74104793 74104793 T G rs930807 DDX43 Synonymous SNV S55S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.369 314451 chr18 3116503 3116503 G A rs372294428 MYOM1 Synonymous SNV H947H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.719 314452 chr7 101924099 101924099 C T rs562399614 CUX1 Nonsynonymous SNV R574W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314453 chr7 102106662 102106662 A T LRWD1 Nonsynonymous SNV D126V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 314454 chr7 103191675 103191675 G A rs79161241 RELN Synonymous SNV F2047F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.02 314455 chr7 104753234 104753239 ACCCCC - rs763958040 KMT2E P1683_P1684del 0.001 0 0 0 1 0 0 0 0 0 0 0 314456 chr19 10475663 10475663 G T TYK2 Nonsynonymous SNV A358D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.603 314457 chr19 10602691 10602691 C T rs146609162 KEAP1 Nonsynonymous SNV R296H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 314458 chr18 42643320 42643320 G C SETBP1 Nonsynonymous SNV S1483T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 314459 chr18 45120649 45120649 T - rs71162868 MIR4527HG 0 0 0.007 0 0 0 0 2 0 0 1 0 314460 chr14 77746759 77746759 G C rs151051452 POMT2 Synonymous SNV P567P 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.779 314461 chr5 16067798 16067798 C T rs199643997 MARCHF11 Nonsynonymous SNV E331K 0.001 0 0 0 1 0 0 0 0 0 0 0 29 314462 chr19 11408952 11408952 G A rs756285339 TSPAN16 Synonymous SNV T68T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.115 314463 chr7 11091357 11091357 G A rs61996285 PHF14 Nonsynonymous SNV V811I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 314464 chr18 48444488 48444488 A T ME2 Nonsynonymous SNV L213F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 314465 chr6 96997630 96997630 G A rs754182562 UFL1 Synonymous SNV S591S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 314466 chr18 51820308 51820308 C T rs768581665 POLI Nonsynonymous SNV S444F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 314467 chr18 5291684 5291684 C G rs757007838 ZBTB14 Nonsynonymous SNV D175H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.52 314468 chr18 56184249 56184249 G T rs751872060 ALPK2 Nonsynonymous SNV P1944H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 314469 chr7 100473193 100473193 G A SRRT 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 314470 chr5 170668139 170668139 A T rs777131581 RANBP17 Nonsynonymous SNV D877V 0.001 0 0 0 1 0 0 0 0 0 0 0 28 314471 chr18 5892157 5892157 C A TMEM200C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 314472 chr14 90650665 90650665 G A rs202176174 KCNK13 Nonsynonymous SNV C182Y 0 0 0 1 0 0 0.003 0 0 0 0 0 2.217 314473 chr18 61390229 61390229 A G rs377001652 SERPINB11 Nonsynonymous SNV I84V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.517 314474 chr14 93043803 93043803 C G rs757246601 RIN3 Synonymous SNV T41T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.335 314475 chr18 61565009 61565009 G A SERPINB2 Nonsynonymous SNV V156I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 314476 chr18 61652417 61652417 T C rs201264307 SERPINB8 Nonsynonymous SNV Y40H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 314477 chr7 128488912 128488912 C T rs371475710 FLNC Synonymous SNV S1601S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 314478 chr18 72114500 72114500 C T rs3764508 DIPK1C Nonsynonymous SNV G73S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 314479 chr5 180486380 180486380 C G rs981683323 BTNL9 Nonsynonymous SNV L376V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.259 314480 chr19 17000038 17000038 G A rs374965245 F2RL3 Nonsynonymous SNV G13E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.65 314481 chr18 76886313 76886313 T G ATP9B Nonsynonymous SNV F202C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 314482 chr14 97326905 97326905 A G rs149661915 VRK1 Nonsynonymous SNV K301E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.94 314483 chr5 31526557 31526557 C A rs367918968 DROSHA Synonymous SNV P161P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 314484 chr19 17295682 17295682 G A rs369941041 MYO9B Synonymous SNV L794L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.78 314485 chr18 77703363 77703363 G A rs116435772 SLC66A2 Synonymous SNV A101A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.246 314486 chr5 34915876 34915876 C T BRIX1 Synonymous SNV G11G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.066 314487 chr7 141840665 141840665 G A rs150316890 MGAM2 Nonsynonymous SNV A384T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.898 314488 chr5 36984910 36984910 T C NIPBL Nonsynonymous SNV I543T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 314489 chr5 35867562 35867562 A C rs201207454 IL7R Nonsynonymous SNV I126L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.53 314490 chr19 10227651 10227651 C T rs148192612 EIF3G Synonymous SNV Q140Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 314491 chr7 102462549 102462549 G A rs79170722 FBXL13 Synonymous SNV D607D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.686 314492 chr7 102949484 102949484 G A rs1057797 PMPCB Nonsynonymous SNV C312Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 314493 chr7 107323910 107323910 C T rs540008835 SLC26A4 Nonsynonymous SNV A310V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 314494 chr7 107703196 107703196 T C LAMB4 X1102W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 314495 chr7 107818448 107818448 T C NRCAM Synonymous SNV L952L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.14 314496 chr19 11233940 11233940 G A rs137853963 LDLR Nonsynonymous SNV R576Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.331 314497 chr19 20728158 20728158 G T ZNF737 Nonsynonymous SNV P284H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 314498 chr5 52285324 52285324 C T ITGA2 Nonsynonymous SNV A9V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.001 314499 chr14 105996052 105996052 - GCC TMEM121 P299_L300insP 0 0 0 1 0 0 0.003 0 0 0 0 0 314500 chr19 12246319 12246319 G T rs372201583 ZNF20 Nonsynonymous SNV L63I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.093 314501 chr19 14069935 14069935 G A DCAF15 Nonsynonymous SNV S288N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 314502 chr7 127224462 127224462 T C GCC1 Nonsynonymous SNV T259A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.996 314503 chr19 1468904 1468904 C T rs376732568 APC2 Synonymous SNV L1867L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.13 314504 chr5 63802596 63802596 G C RGS7BP Nonsynonymous SNV A49P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.38 314505 chr7 128586616 128586616 G A rs201418545 IRF5 Synonymous SNV E149E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.45 314506 chr7 130008374 130008374 C T rs2302824 CPA5 Nonsynonymous SNV R388W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 314507 chr19 35556218 35556218 C T rs766292126 HPN Synonymous SNV T292T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.29 314508 chr19 1527952 1527952 G A rs748172117 PLK5 Nonsynonymous SNV G7D 0 0 0.003 0 0 0 0 1 0 0 0 0 24 314509 chr7 131912277 131912277 G C rs76286420 PLXNA4 Synonymous SNV V605V 0.002 0 0.003 0 2 0 0 1 1 0 0 0 11.17 314510 chr7 134678273 134678273 C T rs186048202 AGBL3 Nonsynonymous SNV R52W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 314511 chr19 35941054 35941054 C T rs747829835 FFAR2 Synonymous SNV I146I 0.002 0 0 0 2 0 0 0 0 0 0 0 8.677 314512 chr19 36303270 36303270 G C PRODH2 Synonymous SNV A197A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.077 314513 chr19 36501911 36501911 C T rs574868640 ALKBH6 Nonsynonymous SNV R102Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.3 314514 chr19 36604446 36604446 G A rs117966240 OVOL3 Synonymous SNV P152P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.32 314515 chr7 23731108 23731108 C T rs140560989 FAM221A Nonsynonymous SNV A119V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 314516 chr7 23731118 23731118 A T rs147747683 FAM221A Nonsynonymous SNV K122N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 314517 chr7 140287517 140287517 G A rs183962765 DENND2A Synonymous SNV Y353Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 314518 chr19 38377346 38377347 TC - rs775080782 WDR87 E2322Rfs*24 0.002 0 0 0 2 0 0 0 0 0 0 0 314519 chr7 142563300 142563300 C T rs8177174 EPHB6 Synonymous SNV H47H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.468 314520 chr19 38379379 38379383 TTCTT - rs765969376 WDR87 Q1643Rfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 314521 chr7 143701438 143701438 G A rs76575838 OR6B1 Nonsynonymous SNV A117T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 314522 chr19 38886659 38886659 G T SPRED3 Synonymous SNV A369A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 314523 chr7 31683168 31683168 T C ITPRID1 Synonymous SNV T728T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.58 314524 chr7 149152475 149152475 C T ZNF777 Synonymous SNV T213T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 314525 chr7 149497052 149497052 G T rs200026488 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 1.971 314526 chr19 18497234 18497234 G A rs753738649 GDF15 Nonsynonymous SNV D79N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 314527 chr19 19304942 19304942 G A rs150525759 RFXANK Nonsynonymous SNV G63S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.081 314528 chr19 19312797 19312797 A G rs139450000 NR2C2AP Synonymous SNV D119D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.341 314529 chr19 19680282 19680282 C T rs145584999 PBX4 Synonymous SNV R248R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 314530 chr15 50782571 50782571 A G USP8 Nonsynonymous SNV T589A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.6 314531 chr19 23926956 23926956 T C rs758847874 ZNF681 Nonsynonymous SNV T466A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 314532 chr19 42728636 42728636 G A rs149913848 ZNF526 Synonymous SNV S27S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.138 314533 chr19 21566032 21566032 A C rs774619302 ZNF738 Nonsynonymous SNV R228S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.342 314534 chr19 42794899 42794899 C T rs139337301 CIC Nonsynonymous SNV P660L 0 0.003 0 0 0 1 0 0 0 0 0 0 not provided 21.3 314535 chr7 154746086 154746086 G A rs143075014 PAXIP1 Synonymous SNV C900C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.359 314536 chr19 2993513 2993513 C T rs10406955 TLE6 Synonymous SNV S367S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.43 314537 chr19 2997913 2997913 C T rs746991756 TLE2 Nonsynonymous SNV R600K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 314538 chr19 44470559 44470559 G T rs557392063 ZNF221 Nonsynonymous SNV R302I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 314539 chr19 44636269 44636269 C - ZNF225 H502Ifs*36 0.001 0 0 0 1 0 0 0 0 0 0 0 314540 chr19 3179931 3179931 G A rs201273565 S1PR4 Nonsynonymous SNV V381M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 314541 chr7 128323026 128323026 A G rs879580795 FAM71F2 Nonsynonymous SNV D248G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.527 314542 chr7 128358951 128358951 G A rs879545577 FAM71F1 Synonymous SNV R167R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.934 314543 chr7 21469700 21469700 A G rs149672683 SP4 Nonsynonymous SNV N289S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 314544 chr7 5104109 5104109 G T rs766493943 RBAK Nonsynonymous SNV G341V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 314545 chr19 36212187 36212187 C T KMT2B Synonymous SNV L646L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 314546 chr6 119252676 119252676 A G rs73521381 MCM9 Synonymous SNV S71S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.672 314547 chr6 117237423 117237423 C T rs138602597 RFX6 Synonymous SNV L306L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.407 314548 chr6 117892065 117892065 G A GOPC Synonymous SNV L282L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 314549 chr7 130038814 130038814 T C rs782131552 CEP41 Nonsynonymous SNV N259S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.001 314550 chr7 131878934 131878934 C T rs755552115 PLXNA4 Nonsynonymous SNV V915M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314551 chr19 46021309 46021309 C G VASP Synonymous SNV A100A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.322 314552 chr7 2472707 2472707 G C rs17132399 CHST12 Nonsynonymous SNV A145P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.279 314553 chr15 66223266 66223266 C T rs141697214 MEGF11 Nonsynonymous SNV V435I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.548 314554 chr19 35775870 35775870 C T rs1048404218 HAMP Synonymous SNV D60D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 314555 chr15 71952907 71952907 C T rs761869074 THSD4 Synonymous SNV V37V 0 0 0 1 0 0 0.003 0 0 0 0 0 19.86 314556 chr19 38379033 38379033 G C rs373713614 WDR87 Nonsynonymous SNV L1760V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 314557 chr7 2976800 2976800 C T rs142108678 CARD11 Synonymous SNV R404R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.97 314558 chr15 73075937 73075937 C G rs551194246 ADPGK Synonymous SNV L32L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 314559 chr7 143175129 143175129 G A rs371558228 TAS2R41 Nonsynonymous SNV R55H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 314560 chr19 4180801 4180801 C T rs138839184 SIRT6 Nonsynonymous SNV A58T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 314561 chr7 87214992 87214992 C T rs199551851 ABCB1 Nonsynonymous SNV R41H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314562 chr19 4345774 4345774 C T rs200526614 MPND Synonymous SNV D109D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 314563 chr19 50713747 50713747 C T rs768878898 MYH14 Nonsynonymous SNV S42L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 314564 chr7 44247734 44247734 C T YKT6 Synonymous SNV N132N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 314565 chr7 149462906 149462906 C G ZNF467 Nonsynonymous SNV A229P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 314566 chr19 50979092 50979092 G A rs117474888 FAM71E1 Stop gain Q120X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 314567 chr7 150174650 150174650 T C rs143128585 GIMAP8 Nonsynonymous SNV C594R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 314568 chr19 51169467 51169467 G T rs757212977 SHANK1 Nonsynonymous SNV S1917Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 314569 chr19 51169468 51169468 A T rs764656035 SHANK1 Nonsynonymous SNV S1917T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 314570 chr7 45753417 45753417 C T rs199863602 ADCY1 Synonymous SNV N1061N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 314571 chr7 47384421 47384421 C A TNS3 Nonsynonymous SNV R861L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.984 314572 chr7 47832367 47832367 A G PKD1L1 Nonsynonymous SNV L2795P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 314573 chr7 97861158 97861158 G A TECPR1 Synonymous SNV D644D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.466 314574 chr7 150935685 150935685 G A rs138308089 CHPF2 Nonsynonymous SNV R746H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 314575 chr7 99752953 99752953 C T MAP11 Synonymous SNV R238R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.35 314576 chr19 42260515 42260515 T C rs782309181 CEACAM6 Synonymous SNV L24L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.551 314577 chr6 159670157 159670157 G A rs575733474 FNDC1 Nonsynonymous SNV A1593T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.484 314578 chr19 4283058 4283058 C T rs752501979 SHD Synonymous SNV P137P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.844 314579 chr7 4965102 4965102 C T MMD2 Nonsynonymous SNV A37T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 314580 chr8 103573044 103573044 C A rs200771536 ODF1 Nonsynonymous SNV P229T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 314581 chr7 51261280 51261280 C T rs1437488 COBL Synonymous SNV A84A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 314582 chr19 45805927 45805927 C T rs956355737 MARK4 Nonsynonymous SNV R740C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 314583 chr15 91523507 91523507 T C PRC1 Nonsynonymous SNV Q271R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.41 314584 chr19 53075499 53075499 G T rs774612870 ZNF701 Nonsynonymous SNV G2V 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 314585 chr19 46280593 46280593 C T rs528309659 DMPK Nonsynonymous SNV G291R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 314586 chr8 116599271 116599271 G A rs142472404 TRPS1 Nonsynonymous SNV S877L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 314587 chr7 70228214 70228214 C A rs528822998 AUTS2 Synonymous SNV P367P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.05 314588 chr19 47177796 47177796 C T rs753177508 PRKD2 Nonsynonymous SNV R717H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 314589 chr7 73280145 73280145 C T rs191035679 TMEM270 Nonsynonymous SNV A247V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.993 314590 chr19 45377219 45377219 C T rs764175486 NECTIN2 Synonymous SNV L274L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.93 314591 chr19 45430994 45430994 - ACAACA rs946622104 APOC1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 314592 chr19 54974374 54974374 C T LENG9 Synonymous SNV A112A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 314593 chr8 125083869 125083869 C T rs116511443 FER1L6 Synonymous SNV V1363V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.362 314594 chr19 48954024 48954024 C T rs746532886 GRWD1 Nonsynonymous SNV R262C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 314595 chr19 54930362 54930362 G A rs770940945 TTYH1 Nonsynonymous SNV A63T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.7 314596 chr16 111432 111432 T C RHBDF1 Nonsynonymous SNV E449G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 314597 chr7 86394557 86394557 G C GRM3 Nonsynonymous SNV E32D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 314598 chr7 31617824 31617824 C T rs777536724 ITPRID1 Stop gain Q316X 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 314599 chr16 734770 734770 A G rs906349568 WDR24 Synonymous SNV C779C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.015 314600 chr16 777601 777601 C T rs915026506 HAGHL Nonsynonymous SNV A31V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.46 314601 chr19 49705274 49705274 C T rs765184826 TRPM4 Nonsynonymous SNV P649S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.585 314602 chr6 26184043 26184043 C - rs752665647 H2BC6 A8Lfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 314603 chr7 95041788 95041788 C A PON2 Nonsynonymous SNV G68V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 314604 chr7 96637047 96637047 G A rs141424124 DLX6 Synonymous SNV Q178Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.861 314605 chr8 101065056 101065056 A T rs141562773 RGS22 Nonsynonymous SNV C374S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 314606 chr19 56125493 56125493 G A rs965254540 ZNF865 Nonsynonymous SNV G170E 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 314607 chr7 45016492 45016492 G A rs199877330 MYO1G Nonsynonymous SNV R92W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 314608 chr7 47408393 47408393 G T TNS3 Nonsynonymous SNV A617E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 314609 chr19 56671116 56671116 G C ZNF444 Nonsynonymous SNV G176A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.021 314610 chr8 10583909 10583909 G C rs4841433 SOX7 Nonsynonymous SNV T169S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.29 314611 chr8 10584067 10584067 C T rs74568834 SOX7 Synonymous SNV P116P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.94 314612 chr7 47886498 47886498 G A PKD1L1 Nonsynonymous SNV S1711F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 314613 chr8 106814975 106814975 C G rs146423225 ZFPM2 Nonsynonymous SNV Q836E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.56 314614 chr8 145016652 145016652 G C PLEC Nonsynonymous SNV P11R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.964 314615 chr19 5207939 5207939 C T rs375237464 PTPRS Synonymous SNV Q1477Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 314616 chr19 53385102 53385102 C A ZNF320 Nonsynonymous SNV D93Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 314617 chr19 53453638 53453638 G A rs779683344 ZNF816 Nonsynonymous SNV R464W 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 314618 chr6 41743172 41743172 A T FRS3 Nonsynonymous SNV C80S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 314619 chr8 124993053 124993053 T C FER1L6 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 314620 chr6 51910855 51910855 C T rs778864835 PKHD1 Nonsynonymous SNV V847M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 314621 chr19 54598563 54598563 C G rs757606507 OSCAR Nonsynonymous SNV V228L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.04 314622 chr7 66094127 66094127 G T rs371919994 KCTD7 Nonsynonymous SNV D26Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 314623 chr6 43307390 43307390 - GTGGTGGAT rs752643918 ZNF318 P1448_P1449insHPP 0.001 0 0 0 1 0 0 0 0 0 0 0 314624 chr19 54667542 54667542 G T TMC4 Synonymous SNV V403V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.415 314625 chr16 12798724 12798724 C T rs145004672 CPPED1 Nonsynonymous SNV V158I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 314626 chr8 2033432 2033432 C T rs146479506 MYOM2 Synonymous SNV H518H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.116 314627 chr6 46563791 46563791 A G CYP39A1 Nonsynonymous SNV L161S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 314628 chr6 46657713 46657713 A G rs45610733 TDRD6 Synonymous SNV A616A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.382 314629 chr20 3653370 3653370 G A ADAM33 Stop gain Q437X 0 0 0 1 0 0 0.003 0 0 0 0 0 37 314630 chr16 20975127 20975127 T C rs766458155 DNAH3 Nonsynonymous SNV N3314S 0.002 0 0 1 2 0 0.003 0 0 0 0 0 23.7 314631 chr20 5843737 5843737 T C SHLD1 Synonymous SNV A82A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.143 314632 chr20 6022186 6022186 G A rs765048126 LRRN4 Nonsynonymous SNV R569W 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 314633 chr20 10386270 10386270 A C MKKS Nonsynonymous SNV I446M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.686 314634 chr19 55741899 55741899 T A rs373572524 PPP6R1 Nonsynonymous SNV Q881H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 314635 chr19 55831426 55831426 G A rs376234678 TMEM150B Nonsynonymous SNV S102F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 314636 chr8 27468171 27468171 C T rs146878138 MIR6843 0.001 0 0 0 1 0 0 0 0 0 0 0 5.543 314637 chr6 62390890 62390890 T G KHDRBS2 Nonsynonymous SNV E343A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.8 314638 chr8 28575329 28575329 G A rs530699484 EXTL3 Nonsynonymous SNV A585T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.13 314639 chr7 99669208 99669208 G T ZNF3 Nonsynonymous SNV T307N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 314640 chr6 70916922 70916922 C A rs143391424 COL19A1 Nonsynonymous SNV P1125T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 314641 chr20 18446020 18446020 C A rs199705658 DZANK1, DZANK1 Stop gain E4X 0 0.003 0 0 0 1 0 0 0 0 0 0 0.829 314642 chr19 56204375 56204375 G A rs748722375 EPN1 Synonymous SNV T386T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 314643 chr8 144940959 144940959 C T rs148527079 EPPK1 Nonsynonymous SNV A2155T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.716 314644 chr8 144990879 144990879 G A rs187810163 PLEC Synonymous SNV A4356A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.885 314645 chr8 102570816 102570816 G A rs147703146 GRHL2 Nonsynonymous SNV V136M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.96 314646 chr20 23030102 23030102 C T rs191884040 THBD Nonsynonymous SNV G14S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 12.24 314647 chr8 145003832 145003832 G C PLEC Nonsynonymous SNV L955V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 314648 chr19 56600364 56600364 C T rs373413068 ZNF787 Synonymous SNV R59R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 314649 chr19 56703354 56703354 G A rs755499597 ZSCAN5B Synonymous SNV P151P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.834 314650 chr8 38853022 38853022 T A TM2D2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 7.868 314651 chr19 58115735 58115735 G A rs146090269 ZNF530 Nonsynonymous SNV D41N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.054 314652 chr8 39873114 39873114 G A rs747887808 IDO2 Nonsynonymous SNV R419H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.769 314653 chr20 31499371 31499371 G T rs369336389 EFCAB8 Nonsynonymous SNV G548V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.268 314654 chr8 42183529 42183529 G A rs78448523 IKBKB Nonsynonymous SNV M674I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.9 314655 chr20 31500643 31500643 G C rs113341957 EFCAB8 Nonsynonymous SNV G610A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 314656 chr8 145666116 145666116 G A rs150235596 TONSL Synonymous SNV S383S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.299 314657 chr19 5783143 5783143 G - rs761300125 PRR22 P372Lfs*57 0 0 0.003 0 0 0 0 1 0 0 0 0 314658 chr20 35575163 35575163 G A rs765170388 SAMHD1 Nonsynonymous SNV R85C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 314659 chr8 17915126 17915126 C T rs17636067 ASAH1 Nonsynonymous SNV V363I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 22.4 314660 chr8 1808067 1808067 T C ARHGEF10 Synonymous SNV G66G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.611 314661 chr20 43836721 43836721 A C SEMG1 Synonymous SNV L261L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 314662 chr8 18729933 18729933 G A rs187490678 PSD3 Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.041 314663 chr20 43851718 43851718 G T SEMG2 Nonsynonymous SNV G482V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.095 314664 chr7 100282185 100282185 A G GIGYF1 Nonsynonymous SNV M506T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 314665 chr8 77616542 77616542 G C ZFHX4 Nonsynonymous SNV Q73H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 314666 chr8 94746420 94746420 C T rs372170893 RBM12B Nonsynonymous SNV R740Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 314667 chr19 6984840 6984840 G A rs75932265 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.609 314668 chr19 6986344 6986344 C G rs10423025 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.658 314669 chr19 9005676 9005676 C G rs201703611 MUC16 Nonsynonymous SNV D13244H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 314670 chr20 50091995 50091995 G A rs375019669 NFATC2 Nonsynonymous SNV T492I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.35 314671 chr20 50408694 50408694 C T rs141750452 SALL4 Nonsynonymous SNV V110M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.74 314672 chr19 7566161 7566161 C G TEX45 Nonsynonymous SNV I151M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 314673 chr19 7747393 7747393 C A rs376470132 TRAPPC5 Nonsynonymous SNV A85E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 314674 chr20 55941883 55941883 C T rs758746839 RAE1 Synonymous SNV T132T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 314675 chr7 100849652 100849652 G A PLOD3 Synonymous SNV L709L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.436 314676 chr20 57597945 57597945 A C TUBB1 Nonsynonymous SNV S35R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.58 314677 chr20 60897433 60897433 C T rs780026582 LAMA5 Nonsynonymous SNV E2080K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.73 314678 chr19 8993013 8993013 T C rs575374270 MUC16 Nonsynonymous SNV T13916A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 314679 chr8 41166632 41166632 C T SFRP1 Nonsynonymous SNV G16D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 314680 chr7 112112837 112112837 G A rs771235895 IFRD1 Nonsynonymous SNV R346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314681 chr20 61292446 61292446 C T rs142725476 SLCO4A1 Nonsynonymous SNV A347V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 314682 chr7 117232481 117232481 G A rs150157202 CFTR Nonsynonymous SNV V754M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.095 314683 chr7 100775236 100775236 G A rs373629815 SERPINE1 Nonsynonymous SNV G196S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 314684 chr8 56986704 56986704 G A rs11537561 RPS20 Synonymous SNV T6T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 314685 chr19 9067509 9067509 C T rs761408120 MUC16 Nonsynonymous SNV R6646K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.227 314686 chr1 109840865 109840865 A G rs200938847 MYBPHL Nonsynonymous SNV W54R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.306 314687 chr20 62608455 62608455 C A SAMD10 Nonsynonymous SNV S105I 0 0.003 0 0 0 1 0 0 0 0 0 0 28 314688 chr8 74893452 74893452 A G rs61734099 TMEM70 Nonsynonymous SNV T127A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 314689 chr8 81897435 81897435 A G rs141799246 PAG1 Nonsynonymous SNV V151A 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 0.001 314690 chr8 18074472 18074472 C T NAT1 Synonymous SNV L24L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.42 314691 chr1 112318747 112318747 C T KCND3 Synonymous SNV T621T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.05 314692 chr8 18430044 18430044 C G PSD3 Synonymous SNV L392L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 314693 chr1 113093246 113093246 G A rs142542242 ST7L Nonsynonymous SNV T306M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 314694 chr8 8749044 8749044 G A rs560880992 MFHAS1 Nonsynonymous SNV P509S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 314695 chr8 95518762 95518762 C T rs151224902 VIRMA Nonsynonymous SNV A1355T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 314696 chr1 10719968 10719968 G A rs140148473 CASZ1 Synonymous SNV D377D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.111 314697 chr8 95866082 95866082 A G rs202069827 INTS8 Nonsynonymous SNV N564S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.711 314698 chr1 109193761 109193761 T C rs746159248 HENMT1 Nonsynonymous SNV M157V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 314699 chr21 33721642 33721642 C T rs200312105 URB1 Nonsynonymous SNV V995M 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 5.055 314700 chr8 22079030 22079030 G A rs199574600 PHYHIP Nonsynonymous SNV R277C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 314701 chr21 34945698 34945698 T C rs368485974 SON Synonymous SNV L352L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.72 314702 chr7 128415659 128415659 G A rs150165356 OPN1SW Synonymous SNV Y62Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 314703 chr8 99152322 99152322 A C rs2306131 POP1 Nonsynonymous SNV E460A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.03 314704 chr1 110029664 110029664 C T rs201678517 ATXN7L2 Nonsynonymous SNV R112W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 314705 chr9 100315618 100315618 G A rs141990709 TMOD1 Synonymous SNV T111T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 314706 chr8 23114060 23114060 C A CHMP7 Nonsynonymous SNV Q139K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 314707 chr9 100919845 100919845 C T rs551562035 CORO2A Nonsynonymous SNV R33H 0.002 0 0 0 2 0 0 0 1 0 0 0 22.8 314708 chr21 40184928 40184928 G A rs771933020 ETS2 Nonsynonymous SNV R25H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 314709 chr7 133842895 133842895 A G rs201185823 LRGUK Nonsynonymous SNV I260V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 314710 chr9 103947821 103947821 G A rs142421575 PLPPR1 Synonymous SNV P15P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 314711 chr1 12628431 12628431 C T rs754683233 DHRS3 Nonsynonymous SNV E198K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 314712 chr9 130495777 130495777 G A rs187927507 TOR2A Stop gain R72X 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 314713 chr1 1268054 1268054 G A TAS1R3 Synonymous SNV V381V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.476 314714 chr7 138281169 138281169 G T SVOPL Nonsynonymous SNV A335D 0.001 0 0 0 1 0 0 0 0 0 0 0 26 314715 chr7 138363727 138363727 C T rs146127387 SVOPL Nonsynonymous SNV A22T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 314716 chr21 43161412 43161412 C T rs116160025 RIPK4 Synonymous SNV T647T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 11.53 314717 chr21 43522453 43522453 C G rs1050571034 UMODL1-AS1 0.001 0.003 0 0 1 1 0 0 0 0 0 0 2.879 314718 chr21 43508412 43508412 C T rs201421393 UMODL1 Synonymous SNV S204S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 314719 chr9 111617422 111617422 G T rs150394114 ACTL7B Synonymous SNV A263A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.008 314720 chr21 44151948 44151948 G A PDE9A Nonsynonymous SNV V44I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 314721 chr8 29025089 29025089 C T KIF13B Nonsynonymous SNV G320D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 314722 chr9 132375421 132375421 G A rs537435680 C9orf50 Stop gain R385X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314723 chr21 44324149 44324149 C T rs748410226 NDUFV3 Nonsynonymous SNV R343C 0 0.003 0 0 0 1 0 0 0 0 0 0 4.797 314724 chr7 141740554 141740554 C T rs201238988 MGAM Synonymous SNV V802V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.08 314725 chr21 45499525 45499525 C T TRAPPC10 Nonsynonymous SNV P50L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 314726 chr1 146756040 146756044 ATTTG - CHD1L F371Rfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 314727 chr9 134007985 134007985 T C NUP214 Synonymous SNV T222T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 314728 chr1 1216971 1216971 G A rs185720857 SCNN1D Synonymous SNV P86P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.236 314729 chr1 1229855 1229866 GCCAGCGCCGCC - rs988021610 ACAP3 A686_A689del 0 0 0.003 0 0 0 0 1 0 0 0 0 314730 chr1 1231280 1231280 T A rs139847292 ACAP3 Nonsynonymous SNV E514V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 314731 chr1 1289438 1289438 C T rs140032389 MXRA8 Nonsynonymous SNV M297I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 314732 chr1 1334993 1334993 C A rs185071634 MRPL20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.307 314733 chr9 117853183 117853183 C T rs143586851 TNC Nonsynonymous SNV A39T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.641 314734 chr22 18031791 18031791 G T rs752922925 CECR2 Synonymous SNV V1287V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.989 314735 chr1 145382371 145382371 A G rs1007760307 LINC01719 0 0 0.014 0 0 0 0 4 0 0 2 0 4.813 314736 chr22 17578720 17578720 G A rs201500195 IL17RA Nonsynonymous SNV R66Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.5 314737 chr1 145588999 145588999 A T NUDT17 Synonymous SNV A83A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 314738 chr17 2298496 2298496 G A rs746319729 MNT Nonsynonymous SNV A109V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.916 314739 chr9 124519306 124519306 C T rs373885033 DAB2IP Nonsynonymous SNV P2L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314740 chr9 125288705 125288705 G A OR1N1 Synonymous SNV L290L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.022 314741 chr9 139301966 139301966 G C ENTR1 Synonymous SNV S77S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.206 314742 chr1 151150539 151150539 A G VPS72 Synonymous SNV H215H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.269 314743 chr22 18028910 18028910 G A rs780786272 CECR2 Synonymous SNV S1147S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.375 314744 chr22 18301010 18301010 G A rs375690426 MICAL3 Nonsynonymous SNV R1473W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 314745 chr9 140128897 140128897 G A rs201759654 SLC34A3 Nonsynonymous SNV G375S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24 314746 chr9 128692068 128692068 C T rs1854706 PBX3 Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 314747 chr22 26166842 26166842 C T rs184262574 MYO18B Nonsynonymous SNV T528M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 314748 chr7 20666226 20666226 A G rs201244034 ABCB5 Nonsynonymous SNV I34V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.001 314749 chr8 87878725 87878725 T C rs78702891 CNBD1 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 314750 chr9 130578006 130578006 G A rs181330955 ENG Synonymous SNV I644I 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign/Likely benign 15.08 314751 chr8 95539192 95539192 G A rs113939516 VIRMA Nonsynonymous SNV S427F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.836 314752 chr9 18887852 18887852 G A rs774610676 ADAMTSL1 Nonsynonymous SNV V1425I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 314753 chr9 100080796 100080796 G C rs201506698 CCDC180 Nonsynonymous SNV E381D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.093 314754 chr9 19516262 19516262 C T rs144645033 SLC24A2 Synonymous SNV K608K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 314755 chr9 132484565 132484565 C T rs138042846 PRRX2 Synonymous SNV I232I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.27 314756 chr1 161144965 161144965 C T rs141596172 B4GALT3 Nonsynonymous SNV E103K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 314757 chr9 134001113 134001113 A G NUP214 Nonsynonymous SNV M8V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 314758 chr9 134349105 134349105 G A rs191333532 PRRC2B Nonsynonymous SNV R773H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.77 314759 chr1 164761867 164761867 G A rs199855181 PBX1 Synonymous SNV A51A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 314760 chr1 158639344 158639344 G A rs369087649 SPTA1 Nonsynonymous SNV R563W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 314761 chr9 135203176 135203176 G A rs144334281 SETX Nonsynonymous SNV P1270L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 314762 chr1 167849405 167849405 A G rs778642078 ADCY10 Synonymous SNV S235S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.21 314763 chr9 135285840 135285840 C T rs76922475 CFAP77 Nonsynonymous SNV P61L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 314764 chr9 135771793 135771793 G A rs35593170 TSC1 Synonymous SNV G1057G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.596 314765 chr1 159409759 159409759 T C rs116161672 OR10J1 Nonsynonymous SNV Y60H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 314766 chr9 136310933 136310933 C T rs145728650 ADAMTS13 Synonymous SNV C908C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.66 314767 chr1 159860322 159860322 G A rs62640918 CFAP45 Nonsynonymous SNV R74C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 314768 chr1 159922226 159922226 C G rs35438196 SLAMF9 Nonsynonymous SNV D164H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 314769 chr9 137646151 137646151 G A rs144065675 COL5A1 Synonymous SNV P602P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.99 314770 chr1 171761338 171761338 C T EEF1AKNMT Synonymous SNV G396G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 314771 chr1 160324042 160324042 C T rs61748944 NCSTN Synonymous SNV G300G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.23 314772 chr17 10213143 10213143 G T MYH13 Nonsynonymous SNV S1554Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.3 314773 chr9 139399320 139399320 C T rs76371972 NOTCH1 Nonsynonymous SNV R1608H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25 314774 chr7 45141470 45141470 G A rs777879478 TBRG4 Synonymous SNV A397A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 314775 chr1 17666222 17666222 C A rs142590988 PADI4 Nonsynonymous SNV T189N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.2 314776 chr1 177000040 177000040 A G ASTN1 Nonsynonymous SNV I305T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 314777 chr9 139751649 139751649 G A rs76796290 MAMDC4 Nonsynonymous SNV E669K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 314778 chr9 79635053 79635053 C A FOXB2 Nonsynonymous SNV H161Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 314779 chr9 79635062 79635062 G C FOXB2 Nonsynonymous SNV Q164H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 314780 chr9 139925221 139925221 A G rs199955257 FUT7 Nonsynonymous SNV Y324H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.37 314781 chr9 139935552 139935552 G A rs551464781 NPDC1 Nonsynonymous SNV P116L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.444 314782 chr9 8485854 8485854 G C rs752550696 PTPRD Nonsynonymous SNV T988S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 314783 chr22 42000072 42000072 G A rs145019403 DESI1 Nonsynonymous SNV S89F 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 314784 chr22 42125754 42125754 C T rs199660076 MEI1 Nonsynonymous SNV A317V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.1 314785 chr7 50121443 50121443 C T rs769864652 ZPBP Synonymous SNV T87T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 314786 chr9 140139560 140139560 G C rs146192138 FAM166A Nonsynonymous SNV I211M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 314787 chr9 140173894 140173894 G A rs118073815 TOR4A Synonymous SNV V251V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.479 314788 chr9 140174118 140174118 T G rs28516757 TOR4A Nonsynonymous SNV F326C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.043 314789 chr9 95228648 95228648 T C rs921706454 ASPN Nonsynonymous SNV H197R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 314790 chr1 184767270 184767270 C T rs142738140 NIBAN1 Nonsynonymous SNV V537I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 314791 chr1 186023011 186023011 G A HMCN1 Nonsynonymous SNV R2252K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 314792 chr9 14722590 14722590 C T CER1 Synonymous SNV Q27Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.679 314793 chr7 55479602 55479602 G A rs748947136 LANCL2 Synonymous SNV P276P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.74 314794 chr22 50728170 50728170 C T rs200815418 PLXNB2 Nonsynonymous SNV A282T 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 314795 chr7 72863901 72863901 G A rs782404725 BAZ1B Synonymous SNV P1233P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.79 314796 chrX 109694502 109694502 G C RTL9 Nonsynonymous SNV Q219H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 314797 chrX 118223367 118223367 C G KIAA1210 Nonsynonymous SNV G609A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.145 314798 chr9 32541425 32541425 A G TOPORS Nonsynonymous SNV L968S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 314799 chr9 3257026 3257026 G A rs145551511 RFX3 Synonymous SNV A593A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 314800 chr9 131467590 131467590 G C PKN3 Synonymous SNV P11P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.601 314801 chr9 36390582 36390582 G C rs768321767 RNF38 Nonsynonymous SNV P15R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 314802 chr17 29162032 29162032 C T rs372674463 ATAD5 Synonymous SNV S311S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.84 314803 chr9 4561502 4561502 G A rs572265548 SLC1A1 Nonsynonymous SNV V96M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 314804 chrX 149880815 149880815 T G MTMR1 Nonsynonymous SNV V85G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 314805 chrX 149983405 149983405 A G rs782762279 CD99L2 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.108 314806 chrX 54584969 54584969 A G GNL3L Nonsynonymous SNV D516G 0 0.005 0 0 0 2 0 0 0 1 0 0 6.966 314807 chr1 190067882 190067882 T C BRINP3 Nonsynonymous SNV S421G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 314808 chr1 190769109 190769110 GT - LINC01720 0 0 0.007 0 0 0 0 2 0 0 1 0 314809 chr7 92146783 92146783 T A rs145256496 PEX1 Nonsynonymous SNV K349I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 314810 chrX 63411196 63411196 C T rs761243052 AMER1 Synonymous SNV R657R 0 0.005 0 0 0 2 0 0 0 1 0 0 8.294 314811 chr9 711338 711338 G A rs778128009 KANK1 Nonsynonymous SNV G33D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 314812 chr9 72723222 72723222 C T rs779446797 MAMDC2 Nonsynonymous SNV R82C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314813 chr7 99032528 99032528 C A rs148051918 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV R113L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 314814 chr1 206652427 206652427 C G rs2297542 IKBKE Synonymous SNV P293P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.26 314815 chr1 20680566 20680566 C T rs763950294 VWA5B1 Nonsynonymous SNV S1153L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 314816 chr1 197326056 197326056 C T rs778627080 CRB1 Stop gain Q250X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 35 314817 chr8 100155318 100155318 G A rs140601319 VPS13B Nonsynonymous SNV A590T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 314818 chr8 103251034 103251034 A C rs72554092 RRM2B Nonsynonymous SNV L6R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.32 314819 chrX 153297836 153297836 C A rs782797297 MECP2 Nonsynonymous SNV G79W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 314820 chr8 106814443 106814443 T C ZFPM2 Synonymous SNV A658A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.613 314821 chr8 109229667 109229667 T C rs757247022 EIF3E Nonsynonymous SNV M249V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 314822 chrX 15591586 15591586 C T rs748359955 ACE2 Nonsynonymous SNV R482Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 314823 chr9 8485928 8485928 G A rs3824417 PTPRD Synonymous SNV I963I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.601 314824 chr9 8500777 8500777 A G rs566949785 PTPRD Nonsynonymous SNV V702A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 314825 chrX 34149764 34149764 A G rs186776394 FAM47A Nonsynonymous SNV L211P 0.001 0 0.007 0 1 0 0 2 0 0 1 0 21.3 314826 chr17 38936054 38936054 G A KRT27 Synonymous SNV A248A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.55 314827 chr1 203188942 203188942 G T rs143518872 CHIT1 Synonymous SNV T236T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.966 314828 chr9 97522829 97522829 G A rs16911681 AOPEP Nonsynonymous SNV R255Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.31 314829 chrX 100745135 100745135 C T ARMCX4 Nonsynonymous SNV A520V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 314830 chr1 204955219 204955219 A G rs148110537 NFASC Nonsynonymous SNV K934R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.76 314831 chrX 55033485 55033485 A C rs201964062 APEX2 Nonsynonymous SNV N221H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 314832 chrX 102631378 102631378 G A BEX3 Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.345 314833 chrX 102832119 102832119 - G rs201917819 TCEAL4 Frameshift insertion E55Gfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 314834 chr9 140128924 140128924 G A rs201401168 SLC34A3 Nonsynonymous SNV G384S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 314835 chr1 220869998 220869998 C A rs771614062 C1orf115 Synonymous SNV I118I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 314836 chr1 22183567 22183567 A G rs751036475 HSPG2 Nonsynonymous SNV V1840A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.9 314837 chrX 118284520 118284520 C A rs142034189 KIAA1210 Nonsynonymous SNV R8L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.93 314838 chrX 122799547 122799547 G A rs1034199767 THOC2 Synonymous SNV H444H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.337 314839 chr1 207135631 207135631 G A rs202227399 FCAMR Synonymous SNV I193I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 314840 chrX 130415292 130415292 C T rs370349619 IGSF1 Nonsynonymous SNV V507I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 314841 chrX 134711265 134711265 A T rs34862419 INTS6L Nonsynonymous SNV T641S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 314842 chr10 101147922 101147922 C T rs116405851 CNNM1 Synonymous SNV D846D 0.002 0 0 0 2 0 0 0 0 0 0 0 7.419 314843 chr1 225454412 225454412 T C rs917018838 DNAH14 Synonymous SNV L2494L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.21 314844 chr10 102021775 102021775 A G CWF19L1 Synonymous SNV N23N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.148 314845 chr10 102541034 102541034 C A PAX2 Nonsynonymous SNV S176R 0.002 0 0 0 2 0 0 0 0 0 0 0 30 314846 chr10 102738891 102738891 G A rs149549143 SEMA4G Synonymous SNV K282K 0.002 0 0 0 2 0 0 0 0 0 0 0 11.39 314847 chrX 152818590 152818590 G A rs139853349 ATP2B3 Nonsynonymous SNV D641N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 314848 chrX 153049487 153049487 C T rs4898443 SRPK3 Synonymous SNV P321P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.693 314849 chrX 153667422 153667422 C T rs2230286 GDI1 Synonymous SNV S108S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.62 314850 chr10 106130656 106130656 A T CFAP58 Stop gain K312X 0.002 0 0 0 2 0 0 0 0 0 0 0 42 314851 chr10 115350524 115350524 T C rs772552418 NRAP Nonsynonymous SNV K1554R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 314852 chr10 114925402 114925402 C - rs768101780 TCF7L2 S473Pfs*5 0.002 0 0 0 2 0 0 0 0 0 0 0 314853 chr10 120789366 120789366 C T rs757643633 NANOS1 Nonsynonymous SNV P18L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 314854 chrX 36368166 36368166 G A rs142247556 CFAP47 Nonsynonymous SNV D2873N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.037 314855 chrX 38013801 38013801 G A rs139740788 SRPX Synonymous SNV T355T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 314856 chrX 38145134 38145136 CTC - rs200211905 RPGR G1039del 0.001 0 0 0 1 0 0 0 0 0 0 0 314857 chrX 48682972 48682972 A G rs151130423 HDAC6 Nonsynonymous SNV N1200D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 314858 chr10 124692046 124692046 A G C10orf88 Nonsynonymous SNV I412T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 314859 chrX 53456877 53456877 G A rs782209169 RIBC1 Nonsynonymous SNV R92H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 314860 chr1 228463635 228463635 G T OBSCN Nonsynonymous SNV R2043L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 314861 chrX 54521810 54521810 G A FGD1 Nonsynonymous SNV A19V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 314862 chr8 17793188 17793188 G C rs190100610 PCM1 Nonsynonymous SNV E23D 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.264 314863 chrX 70837340 70837340 T A rs184667338 CXCR3 Synonymous SNV T41T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.047 314864 chr8 20004784 20004784 T C rs17215787 SLC18A1 Synonymous SNV A451A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.973 314865 chrX 71359892 71359892 C T rs149819079 NHSL2 Nonsynonymous SNV R832C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314866 chr1 237732529 237732529 G A rs772236215 RYR2 Nonsynonymous SNV E1170K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 314867 chrX 75003675 75003675 T C rs61732439 MAGEE2 Synonymous SNV V404V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.036 314868 chr1 244735971 244735971 A T rs138631984 CATSPERE Nonsynonymous SNV N465I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 314869 chr1 24485649 24485649 G T rs371172712 IFNLR1 Nonsynonymous SNV L232M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.57 314870 chr1 235345116 235345116 G A rs933266227 ARID4B Nonsynonymous SNV R954W 0 0 0.003 0 0 0 0 1 0 0 0 0 28 314871 chr8 25189837 25189837 G C DOCK5 Nonsynonymous SNV M658I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 314872 chr10 15146141 15146141 A T RPP38 Nonsynonymous SNV K276N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 314873 chr1 1115644 1115644 G T rs752866610 TTLL10 Nonsynonymous SNV G71W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 314874 chr10 15183026 15183026 G C NMT2 Nonsynonymous SNV T56R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 314875 chr10 16919065 16919065 G A rs150730481 CUBN Synonymous SNV N2979N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.552 314876 chr10 22019855 22019855 G A rs142554860 MLLT10 Nonsynonymous SNV R697H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 314877 chr1 2560797 2560797 A G rs943575770 MMEL1 Synonymous SNV L43L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 314878 chr8 3855460 3855460 G C rs988984322 CSMD1 Nonsynonymous SNV F261L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 314879 chr8 48877198 48877198 T C MCM4 Nonsynonymous SNV I253T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 314880 chr10 33209007 33209007 T C rs11009146 ITGB1 Synonymous SNV Q425Q 0.003 0 0 0 3 0 0 0 0 0 0 0 2.518 314881 chr10 33475234 33475234 C T rs566477081 NRP1 Nonsynonymous SNV D743N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 314882 chr10 38120948 38120948 G A ZNF248 Synonymous SNV F445F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.782 314883 chr10 45891307 45891307 G T rs369195335 ALOX5 Nonsynonymous SNV K118N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 314884 chr1 248551798 248551798 G A OR2T6 Nonsynonymous SNV V297M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 314885 chr10 49654502 49654502 T C rs148992704 ARHGAP22 Nonsynonymous SNV M587V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 314886 chr1 28120102 28120102 G C rs200386519 STX12 Nonsynonymous SNV E83Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 314887 chr10 50109878 50109878 A T WDFY4 Nonsynonymous SNV K2519I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 314888 chr8 87242151 87242151 C T rs753733169 SLC7A13 Nonsynonymous SNV S119N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 314889 chr8 90937064 90937064 A C rs200077072 OSGIN2 Nonsynonymous SNV E318D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 314890 chr8 90983442 90983446 TTTGT - rs587776650 NBN K219Nfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 314891 chr1 27277907 27277907 C T KDF1 Nonsynonymous SNV R322Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 314892 chr1 27745549 27745549 C T WASF2 Synonymous SNV Q57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 314893 chr1 31349425 31349425 C T rs138909701 SDC3 Nonsynonymous SNV A282T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 314894 chr9 100425320 100425320 C A rs200307901 NCBP1 Nonsynonymous SNV N226K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 314895 chr1 35453017 35453017 G A rs761071485 ZMYM6 Synonymous SNV H1222H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.109 314896 chr1 38027754 38027754 A G rs762414373 DNALI1 Nonsynonymous SNV T217A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 314897 chr1 38197229 38197229 A G EPHA10 Nonsynonymous SNV M506T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 314898 chrX 54099510 54099510 G A FAM120C Stop gain Q1083X 0.002 0 0 0 2 0 0 0 1 0 0 0 36 314899 chr1 38484795 38484795 A G rs77328659 UTP11 Nonsynonymous SNV H136R 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.4 314900 chr10 69902847 69902847 G A rs371306075 MYPN Synonymous SNV S351S 0.003 0 0 0 3 0 0 0 0 0 0 0 12.84 314901 chr1 39339295 39339295 C T rs573242515 GJA9-MYCBP 0 0 0.003 0 0 0 0 1 0 0 0 0 9.954 314902 chr1 20669622 20669622 G A rs576450504 VWA5B1 Nonsynonymous SNV D788N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.93 314903 chr9 113139637 113139637 C T rs370881734 SVEP1 Nonsynonymous SNV R3473Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 314904 chr9 113170750 113170750 T C rs372300684 SVEP1 Nonsynonymous SNV K2377R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 314905 chr9 113198776 113198776 C T rs371061033 SVEP1 Nonsynonymous SNV A1550T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 314906 chrX 77086362 77086362 A C rs145245774 MAGT1 Nonsynonymous SNV V311G 0.002 0 0 0 2 0 0 0 1 0 0 0 Benign 23.1 314907 chr9 114484729 114484729 T G rs146377451 SHOC1 Nonsynonymous SNV L594F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 314908 chrX 92964691 92964691 A G FAM133A Synonymous SNV R91R 0.002 0 0 0 2 0 0 0 1 0 0 0 0.003 314909 chr17 73744977 73744977 A G ITGB4 Nonsynonymous SNV E1056G 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 314910 chr9 116930622 116930622 G A rs200344636 COL27A1 Nonsynonymous SNV D263N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.858 314911 chr10 76970890 76970890 A C VDAC2 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 314912 chr10 76970891 76970891 G C VDAC2 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 314913 chr10 78761166 78761166 G A rs371318119 KCNMA1 Synonymous SNV A755A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 314914 chr10 79567613 79567613 C G rs151299676 DLG5 Nonsynonymous SNV Q1579H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 314915 chr1 46818568 46818568 G A rs148532594 NSUN4 Synonymous SNV P158P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.832 314916 chr9 121930389 121930389 G A rs548387605 BRINP1 Nonsynonymous SNV T420M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 314917 chr1 52863359 52863359 G A rs587780413 ORC1 Nonsynonymous SNV R134W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.9 314918 chr1 36564622 36564622 C T rs202184606 COL8A2 Synonymous SNV G155G 0.002 0 0 0 2 0 0 0 0 0 0 0 4.641 314919 chr10 96093947 96093947 G A NOC3L Nonsynonymous SNV T797I 0.002 0 0 0 2 0 0 0 0 0 0 0 18.98 314920 chr1 37499620 37499620 G T GRIK3 Synonymous SNV R30R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.311 314921 chr1 62718873 62718873 T G KANK4 Nonsynonymous SNV N222H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 314922 chr10 98744106 98744106 C A rs780271847 LCOR Nonsynonymous SNV P1297T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 314923 chr10 99079558 99079558 G C rs186819363 FRAT1 Synonymous SNV G116G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.623 314924 chr9 131772097 131772097 G A rs183074354 SH3GLB2 Synonymous SNV Y243Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 314925 chr11 100847573 100847573 A G ARHGAP42 Nonsynonymous SNV Q755R 0.003 0 0 0 3 0 0 0 0 0 0 0 21.3 314926 chr1 65895578 65895578 C T rs780089873 LEPROT Synonymous SNV H42H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.85 314927 chr9 133759882 133759882 G T ABL1 Synonymous SNV T735T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.529 314928 chr1 6880288 6880288 C G rs749131384 CAMTA1 Synonymous SNV L31L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.929 314929 chr1 45271997 45271997 C T rs770307795 TCTEX1D4 Nonsynonymous SNV G115E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 314930 chr1 12057404 12057404 C T rs751505990 MFN2 Synonymous SNV A175A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 314931 chr1 12382728 12382728 A C rs753719439 VPS13D Nonsynonymous SNV T2614P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.02 314932 chr1 16264027 16264027 A G rs187821820 SPEN Nonsynonymous SNV S3466G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 314933 chr1 86909572 86909572 C T rs761678276 CLCA2 Stop gain Q531X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 314934 chr9 139250865 139250865 C G rs782671048 GPSM1 Nonsynonymous SNV R53G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 314935 chr1 90398861 90398861 C T LRRC8D Synonymous SNV N78N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.75 314936 chr1 96488124 96488124 G A rs530233188 LINC02790 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 314937 chr1 985036 985036 G T rs373097825 AGRN Synonymous SNV G1535G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.934 314938 chr9 14722290 14722290 C G rs748877898 CER1 Synonymous SNV R127R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 314939 chr20 13756705 13756705 C T rs1004573697 ESF1 Synonymous SNV E283E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.56 314940 chr1 24122750 24122750 C T rs142332521 GALE Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.08 314941 chr1 26510931 26510931 C T rs149576633 CNKSR1 Nonsynonymous SNV P354L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.832 314942 chr11 118348825 118348825 G A KMT2A Nonsynonymous SNV G1160S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314943 chr11 118350932 118350932 T C KMT2A Nonsynonymous SNV Y1205H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.6 314944 chr11 118769657 118769657 C T rs143065470 BCL9L Nonsynonymous SNV E1323K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 314945 chr11 118885712 118885712 C A rs782421169 CCDC84 Nonsynonymous SNV P242T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 314946 chr9 35042454 35042454 G C C9orf131 Nonsynonymous SNV W68S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 314947 chr9 35396902 35396902 C T rs534059326 UNC13B Nonsynonymous SNV R715C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 314948 chr9 35906583 35906583 - CCACCACCACCACCACCCCCACCACACCCCTCACCACACCCCTCACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA HRCT1 H107_R108insHTPHHTPHHHHHHHHPHHTPHHLHHHHHHPH 0.002 0 0 0 2 0 0 0 1 0 0 0 314949 chr20 2797363 2797363 C T rs746146054 TMEM239 Nonsynonymous SNV R55W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 314950 chr1 28320025 28320025 C G rs999390796 EYA3 Nonsynonymous SNV G351R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 314951 chr1 31230568 31230568 G A rs1040836361 LAPTM5 Nonsynonymous SNV R9C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 314952 chr20 31499335 31499335 C T rs142806963 EFCAB8 Nonsynonymous SNV T536M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 314953 chr20 3204056 3204056 G A ITPA Nonsynonymous SNV R137H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 314954 chr20 33594277 33594277 T C TRPC4AP Synonymous SNV A596A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 314955 chr20 34171864 34171864 - C FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 314956 chr20 34268786 34268786 A T rs141823006 NFS1 Synonymous SNV I170I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.118 314957 chr1 36054027 36054027 C T TFAP2E Nonsynonymous SNV S220F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 314958 chr20 3677528 3677528 C A SIGLEC1 Synonymous SNV P796P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 314959 chr11 124495740 124495740 T C rs527764626 TBRG1 Nonsynonymous SNV F132S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.23 314960 chr20 36868081 36868081 G C rs751348048 KIAA1755 Nonsynonymous SNV S532R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.56 314961 chr20 3846437 3846437 C T rs566820818 MAVS Synonymous SNV G281G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 314962 chr20 42199344 42199344 C T SGK2 Synonymous SNV L210L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 314963 chr1 40705157 40705157 G A rs772409278 RLF Nonsynonymous SNV G1595S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 314964 chr9 91934627 91934627 G T SECISBP2 Nonsynonymous SNV A33S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 314965 chr11 128844587 128844587 T C rs746866454 ARHGAP32 Synonymous SNV S472S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 314966 chr20 47444343 47444343 - GGCGCAGTCCCC rs752582467 PREX1 A18_H19insGDCA 0 0 0.003 0 0 0 0 1 0 0 0 0 314967 chr11 134238594 134238594 A G rs748245997 GLB1L2 Nonsynonymous SNV M316V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 314968 chr11 17568939 17568939 C T rs901675098 OTOG Nonsynonymous SNV A7V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.736 314969 chr11 17596268 17596268 A T rs766857901 OTOG Synonymous SNV A777A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.945 314970 chr20 57273769 57273769 G A rs759978179 NPEPL1 Synonymous SNV R179R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.901 314971 chr20 60736539 60736539 C T rs140371118 SS18L1 Synonymous SNV S93S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 314972 chr11 20448374 20448374 C T PRMT3 Nonsynonymous SNV P257L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 314973 chr20 60989604 60989604 C T rs767457990 RBBP8NL Nonsynonymous SNV R268Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 314974 chrX 13607687 13607687 C T rs762840723 EGFL6 Synonymous SNV H29H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.623 314975 chr20 61449871 61449871 G A rs961539779 COL9A3 Nonsynonymous SNV G50E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 314976 chr20 61513430 61513430 G A rs141398076 DIDO1 Nonsynonymous SNV A1293V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 314977 chr20 61918965 61918965 A G ARFGAP1 Nonsynonymous SNV N208D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.583 314978 chrX 152101507 152101507 G A ZNF185 Synonymous SNV E149E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.156 314979 chr20 62200643 62200643 C A HELZ2 Nonsynonymous SNV A316S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 314980 chr1 156815088 156815088 C T rs755164242 INSRR Synonymous SNV R739R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.744 314981 chrX 30237075 30237075 T C MAGEB2 Synonymous SNV Y126Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 314982 chr1 158670261 158670261 G A rs769840163 OR6K2 Nonsynonymous SNV T61I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 314983 chr21 30547132 30547132 G A rs143395819 MAP3K7CL Synonymous SNV T61T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 314984 chr11 44129684 44129686 ACT - EXT2 Y176del 0.001 0 0 0 1 0 0 0 0 0 0 0 314985 chr11 44626709 44626709 G A rs145881169 CD82 Nonsynonymous SNV E80K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 314986 chrX 48542290 48542290 A G WAS Synonymous SNV P16P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.202 314987 chr21 35468898 35468898 A G rs763361171 SLC5A3 Synonymous SNV E467E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 314988 chrX 55020375 55020375 G A rs755610050 PFKFB1 Synonymous SNV S22S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 314989 chr21 36410812 36410812 T C rs571313772 RUNX1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.652 314990 chrX 63412787 63412787 A G rs200397022 AMER1 Nonsynonymous SNV F127S 0.001 0 0.007 0 1 0 0 2 0 0 1 0 Benign 9.99 314991 chr21 40177392 40177392 C A rs146079228 ETS2 Nonsynonymous SNV P41Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.512 314992 chr11 4825339 4825339 T G rs138589452 OR52R1 Nonsynonymous SNV H91P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 314993 chr21 42824629 42824629 G A rs1804113 MX1 Nonsynonymous SNV V531I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 314994 chr21 43161766 43161766 C T rs61740546 RIPK4 Synonymous SNV S529S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.733 314995 chr21 43162042 43162042 G A rs56149248 RIPK4 Synonymous SNV S437S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.437 314996 chr21 43531659 43531659 C T rs188727186 UMODL1 Nonsynonymous SNV P704L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.24 314997 chr21 43711685 43711685 G A ABCG1 Synonymous SNV L536L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.747 314998 chr21 45213225 45213225 G T RRP1 Nonsynonymous SNV W100C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 314999 chr21 45978570 45978570 G A KRTAP10-3 Nonsynonymous SNV S10F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 315000 chr11 4880910 4880910 G A OR51H1 Synonymous SNV Y295Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 315001 chr19 4433403 4433403 C T rs749929809 CHAF1A Nonsynonymous SNV S847L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 315002 chr21 46897381 46897381 C G rs760373742 COL18A1 Nonsynonymous SNV P509A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.387 315003 chr21 47361614 47361614 G A rs374315800 PCBP3 Synonymous SNV T344T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 315004 chr21 47544576 47544576 T G COL6A2 Synonymous SNV G561G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 315005 chr19 4512895 4512895 G A rs61731459 PLIN4 Synonymous SNV T359T 0 0 0 1 0 0 0.003 0 0 0 0 0 1.58 315006 chr19 4512896 4512896 G C rs80098309 PLIN4 Nonsynonymous SNV T359S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.646 315007 chr10 106401615 106401615 C G rs949431583 SORCS3 Nonsynonymous SNV A177G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.09 315008 chr22 18028058 18028058 G A rs201916397 CECR2 Synonymous SNV S863S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.63 315009 chr1 183891379 183891379 C T rs113076859 RGL1 Synonymous SNV P647P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 315010 chr10 115612809 115612809 A G rs745371089 DCLRE1A Nonsynonymous SNV S45P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.877 315011 chr10 116068228 116068228 C T rs185736692 AFAP1L2 Nonsynonymous SNV V311M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 315012 chr22 21354382 21354382 G A rs369415723 THAP7 Synonymous SNV L239L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 315013 chr10 117856264 117856264 G A rs754562462 GFRA1 Nonsynonymous SNV A140V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 315014 chr10 120797766 120797766 G A EIF3A Nonsynonymous SNV R1238C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 25.1 315015 chr1 10221319 10221319 A G UBE4B Nonsynonymous SNV K929R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 315016 chr1 117452869 117452869 C G rs77292583 PTGFRN Nonsynonymous SNV S15W 0.001 0 0 0 1 0 0 0 0 0 0 0 11.01 315017 chr10 1230917 1230917 C T rs570530473 ADARB2 Nonsynonymous SNV V643M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.08 315018 chr22 24177064 24177064 G T DERL3 Nonsynonymous SNV Q224K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.311 315019 chr22 24573672 24573672 G A CABIN1 Nonsynonymous SNV V2086I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 315020 chr22 24629515 24629515 G A rs747424500 GGT5 Synonymous SNV H117H 0 0 0.007 0 0 0 0 2 0 0 0 0 0.399 315021 chr22 24916355 24916355 C A rs145766755 UPB1 Nonsynonymous SNV S264R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.3 315022 chr10 124351861 124351861 C A DMBT1 Stop gain Y740X 0 0.005 0 0 0 2 0 0 0 1 0 0 34 315023 chr1 12033034 12033034 C T rs121913554 PLOD1 Stop gain R670X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 41 315024 chr22 27062698 27062698 - G rs57463960 MIAT 0 0 0.007 0 0 0 0 2 0 0 1 0 315025 chr22 32833754 32833754 T C rs117472294 BPIFC Nonsynonymous SNV N247S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 315026 chr22 31673053 31673053 C T LIMK2 Nonsynonymous SNV T663I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 315027 chr22 36886288 36886288 G A rs202049182 FOXRED2 Nonsynonymous SNV R518C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 315028 chr22 37398080 37398080 G A rs201179656 TEX33 Nonsynonymous SNV A96V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.74 315029 chr11 57259096 57259096 G T SLC43A1 Nonsynonymous SNV T341K 0.002 0 0 0 2 0 0 0 0 0 0 0 6.365 315030 chr22 40054941 40054941 G C CACNA1I Nonsynonymous SNV W682S 0 0 0.003 0 0 0 0 1 0 0 0 0 29 315031 chr22 42793917 42793917 C G rs201454033 NFAM1 Nonsynonymous SNV R166T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.147 315032 chr1 223568630 223568630 C T CCDC185 Nonsynonymous SNV L605F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 315033 chr22 44586467 44586467 T A rs760411275 PARVG Nonsynonymous SNV L142H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 315034 chr19 10367416 10367416 G A rs138290957 MRPL4 Synonymous SNV V120V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.305 315035 chr19 10528376 10528376 T A rs553040076 PDE4A Nonsynonymous SNV L30Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21.5 315036 chr11 62415972 62415972 C T rs755808552 INTS5 Nonsynonymous SNV R527Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 315037 chr1 160970428 160970428 G A rs144792483 F11R Synonymous SNV I127I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.33 315038 chr22 50899030 50899030 T C rs894074014 SBF1 Nonsynonymous SNV T1028A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.154 315039 chr1 161693370 161693370 G A rs567408157 FCRLB Nonsynonymous SNV G82E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 315040 chr22 50944480 50944480 G A rs200028742 LMF2 Nonsynonymous SNV A228V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.353 315041 chr1 165632350 165632350 G A rs139191905 ALDH9A1 Synonymous SNV I498I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.89 315042 chr11 640182 640182 T G rs547842677 DRD4 Synonymous SNV A311A 0.002 0 0 0 2 0 0 0 0 0 0 0 1.345 315043 chr2 104995569 104995569 C G rs150568671 LOC100287010 0 0 0.007 0 0 0 0 2 0 0 0 0 6.574 315044 chr1 36501842 36501842 G A AGO3 Nonsynonymous SNV D372N 0.002 0 0 0 2 0 0 0 1 0 0 0 33 315045 chr2 10915127 10915129 ATG - rs748562208 ATP6V1C2 D253del 0 0 0.003 0 0 0 0 1 0 0 0 0 315046 chr11 64990953 64990953 C A rs764077485 SLC22A20P 0.002 0 0 0 2 0 0 0 0 0 0 0 19.41 315047 chr10 50121706 50121706 C G rs752215340 LRRC18 Nonsynonymous SNV K165N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.774 315048 chr2 112944733 112944733 C A FBLN7 Nonsynonymous SNV P278T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 315049 chr1 39896457 39896457 C A rs764804366 MACF1 Synonymous SNV P3676P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 315050 chr2 113539192 113539192 T A rs140186374 IL1A Nonsynonymous SNV D103V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 315051 chr1 41483917 41483917 G A SLFNL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.662 315052 chr2 120373227 120373227 A G CFAP221 Nonsynonymous SNV N451S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 315053 chr11 6567433 6567433 G A rs199792237 DNHD1 Nonsynonymous SNV R1755H 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 24.1 315054 chr2 118705743 118705743 C T rs771240780 CCDC93 Nonsynonymous SNV A388T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 315055 chr2 121223113 121223113 G A rs1029099019 LINC01101 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 315056 chr2 131673223 131673223 C T rs3739130 ARHGEF4 Synonymous SNV A568A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.243 315057 chr2 131673528 131673528 C G rs3739128 ARHGEF4 Nonsynonymous SNV T670S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.617 315058 chr10 69925539 69925539 G A rs951303629 MYPN Nonsynonymous SNV G522S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 315059 chr2 131673871 131673871 C T rs116462083 ARHGEF4 Synonymous SNV G784G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.412 315060 chr2 131674471 131674471 C T rs3739126 ARHGEF4 Synonymous SNV T984T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.798 315061 chr2 131674537 131674537 C G rs80074373 ARHGEF4 Synonymous SNV P1006P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.817 315062 chr11 67161239 67161239 C T RAD9A Nonsynonymous SNV H67Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 315063 chr2 141245223 141245223 C T rs142254534 LRP1B Nonsynonymous SNV R3069H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 315064 chr11 62434319 62434319 T C rs199630913 CSKMT Synonymous SNV G173G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 315065 chr2 136622591 136622591 G A rs144937311 MCM6 Nonsynonymous SNV T357I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 315066 chr2 152107578 152107578 T C RBM43 Nonsynonymous SNV K306E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 315067 chr2 152214276 152214276 T C rs763667838 TNFAIP6 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 315068 chr2 149402604 149402604 C T rs189332039 EPC2 Synonymous SNV F6F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.532 315069 chr2 152321626 152321626 G A rs761568427 RIF1 Synonymous SNV P1864P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.812 315070 chr2 152321642 152321650 AAAAATGTT - rs536244464 RIF1 K1870_V1872del 0 0 0.003 0 0 0 0 1 0 0 0 0 315071 chr11 700182 700182 G A rs150628118 TMEM80 Nonsynonymous SNV G100E 0.002 0 0 0 2 0 0 0 0 0 0 0 15.69 315072 chr2 152382718 152382718 G A rs767584361 NEB Nonsynonymous SNV T5634M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 315073 chr2 152518714 152518714 A G rs34532796 NEB Nonsynonymous SNV Y1969H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.6 315074 chr2 152584304 152584304 C T rs79524813 NEB Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.57 315075 chr2 152584316 152584330 TGCTGGCTGTGCCAG - rs377452683 NEB L57_A61del 0 0 0.003 0 0 0 0 1 0 0 0 0 315076 chr2 152989998 152989998 G A rs116006561 STAM2 Nonsynonymous SNV A267V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 315077 chr11 64597274 64597274 - GGGCCC CDC42BPG P1214_W1215insGP 0.001 0 0 0 1 0 0 0 0 0 0 0 315078 chr2 158272468 158272468 C T rs34234589 CYTIP Synonymous SNV E267E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 315079 chr11 72397230 72397230 C T rs760314680 ARAP1 Nonsynonymous SNV G1081S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 315080 chr11 72695219 72695219 C T rs963539344 FCHSD2 Nonsynonymous SNV A207T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 315081 chr2 158412699 158412699 A G rs35529926 ACVR1C Synonymous SNV N100N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.957 315082 chr11 71943698 71943698 C T rs761761079 INPPL1 Nonsynonymous SNV R581W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 315083 chr2 166903313 166903313 A G SCN1A Synonymous SNV I448I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.657 315084 chr11 73753106 73753106 A G rs142277857 C2CD3 Nonsynonymous SNV S1885P 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 28 315085 chr2 168100110 168100110 C T rs76149079 XIRP2 Synonymous SNV F514F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.655 315086 chr2 170677755 170677755 C G rs758234268 METTL5 Nonsynonymous SNV D85H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 315087 chr2 167143109 167143109 A T rs769001042 SCN9A Nonsynonymous SNV Y447N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 315088 chr2 21225113 21225113 A G rs12720843 APOB Nonsynonymous SNV V4394A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.74 315089 chr11 76829294 76829294 G A rs782089468 CAPN5 Nonsynonymous SNV E355K 0.001 0 0 0 1 0 0 0 0 0 0 0 27 315090 chr2 168114449 168114449 G C XIRP2 Nonsynonymous SNV D243H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 315091 chr19 33792760 33792760 C G rs538441046 CEBPA Synonymous SNV P68P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 6.42 315092 chr2 179438713 179438713 A G rs56399205 TTN Nonsynonymous SNV L14984P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.12 315093 chr11 86209152 86209152 A G rs942070507 ME3 Synonymous SNV T186T 0.002 0 0 0 2 0 0 0 0 0 0 0 6.071 315094 chr2 29436902 29436902 G A rs771475772 ALK Nonsynonymous SNV R163W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 315095 chr1 220383817 220383817 C A RAB3GAP2 Nonsynonymous SNV L175F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 315096 chr1 220960464 220960464 C G rs199985036 MTARC1 Nonsynonymous SNV Q60E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.32 315097 chr1 225268119 225268119 G A DNAH14 Synonymous SNV V935V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.64 315098 chr11 94203781 94203781 C T rs773384135 MRE11 Synonymous SNV G291G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.13 315099 chr11 71189491 71189491 G C NADSYN1 Synonymous SNV A283A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 315100 chr2 202508102 202508102 G A rs972949531 TMEM237 Nonsynonymous SNV R8W 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 315101 chr2 202744892 202744892 T C rs199752210 CDK15 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 315102 chr2 55907889 55907889 C T rs768009098 PNPT1 Nonsynonymous SNV V175I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 315103 chr12 105460402 105460402 G A rs535287864 ALDH1L2 Nonsynonymous SNV P214S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 315104 chr2 64806664 64806664 T C rs200343052 AFTPH Synonymous SNV L813L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.678 315105 chr12 106824173 106824173 G A rs766417611 POLR3B Synonymous SNV T404T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.38 315106 chr12 108912776 108912776 G A rs141870191 FICD Nonsynonymous SNV V301M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 315107 chr2 211301021 211301021 G A rs780529363 LANCL1 Synonymous SNV H323H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.72 315108 chr11 8008931 8008931 C A EIF3F Nonsynonymous SNV P11H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 315109 chr2 214148778 214148778 G A rs1009202850 SPAG16-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 7.573 315110 chr2 215595203 215595203 A G rs2228456 BARD1 Nonsynonymous SNV C132R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.148 315111 chr2 215852421 215852421 T C rs145517253 ABCA12 Nonsynonymous SNV N991S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.754 315112 chr2 71795183 71795183 G A rs200049922 DYSF Nonsynonymous SNV E858K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 315113 chr2 219029486 219029486 C T rs147067502 CXCR1 Nonsynonymous SNV R150H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 315114 chr11 86131066 86131066 G C rs781135222 CCDC81 Nonsynonymous SNV Q506H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 315115 chr2 219553519 219553519 T C STK36 Nonsynonymous SNV S494P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 315116 chr12 112686146 112686146 T C rs377114871 HECTD4 Nonsynonymous SNV N1384S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 315117 chr2 76975877 76975877 C T LRRTM4 Nonsynonymous SNV A574T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 315118 chr2 220085976 220085976 G A rs769517669 ATG9A Nonsynonymous SNV R732C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315119 chr1 244855197 244855197 G A DESI2 Nonsynonymous SNV G43R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 315120 chr2 85626333 85626333 G A rs11539103 CAPG Nonsynonymous SNV R198W 0 0 0.003 2 0 0 0.005 1 0 0 0 0 33 315121 chr1 246727681 246727681 G C rs145230867 TFB2M Synonymous SNV L123L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 315122 chr1 246784899 246784899 A G rs12091148 CNST Nonsynonymous SNV Q183R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.78 315123 chr1 246810698 246810698 C T rs12075111 CNST Nonsynonymous SNV R399C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 315124 chr11 107832931 107832931 A C rs749775277 RAB39A Nonsynonymous SNV N163H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 315125 chr2 224842319 224842319 C T rs774018721 SERPINE2 Synonymous SNV S366S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 315126 chr2 97351711 97351711 G A rs778452251 FER1L5 Nonsynonymous SNV A644T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 315127 chr1 248402536 248402536 C G rs767976689 OR2M4 Nonsynonymous SNV F102L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 315128 chr2 103431362 103431362 T C TMEM182 Nonsynonymous SNV F67L 0.002 0 0 0 2 0 0 0 0 0 0 0 20.9 315129 chr2 234863884 234863884 G A rs766553250 TRPM8 Nonsynonymous SNV R451H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 315130 chr2 235950823 235950823 C T rs34237841 SH3BP4 Synonymous SNV I470I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.79 315131 chr2 3599768 3599768 C T rs771029707 RNASEH1 Synonymous SNV A99A 0.001 0 0 0 1 0 0 0 0 0 0 0 12 315132 chr11 119025083 119025083 C T rs201410516 ABCG4 Nonsynonymous SNV T157M 0 0.003 0 0 0 1 0 0 0 0 0 0 33 315133 chr2 238726505 238726505 T G rs372411647 RBM44 Nonsynonymous SNV S316A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 315134 chr2 10188298 10188298 C A rs765154301 KLF11 Synonymous SNV V261V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.897 315135 chr2 241715299 241715299 G A rs748423559 KIF1A Synonymous SNV S309S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.63 315136 chr12 18800866 18800866 G A rs575019591 PIK3C2G Synonymous SNV K1414K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.66 315137 chr12 18865875 18865875 A T rs544364887 PLCZ1 Nonsynonymous SNV D101E 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 315138 chr1 153946167 153946167 G T rs754567003 CREB3L4 Synonymous SNV G323G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.92 315139 chr2 24896254 24896254 C T rs542918488 NCOA1 Synonymous SNV D92D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 315140 chr2 25095558 25095558 C T rs748089477 ADCY3 Nonsynonymous SNV A236T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 315141 chr1 154951234 154951234 C T CKS1B Nonsynonymous SNV P74L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 315142 chr2 27306633 27306633 G A rs147465572 EMILIN1 Nonsynonymous SNV G732S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.71 315143 chr2 27884073 27884073 G A SUPT7L Nonsynonymous SNV T66M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 315144 chr2 29255907 29255907 T C rs138553278 TOGARAM2 Nonsynonymous SNV I516T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.8 315145 chr2 32431994 32431994 A C rs200170269 SLC30A6 Nonsynonymous SNV I73L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 315146 chr2 42284501 42284501 G C PKDCC Nonsynonymous SNV A455P 0 0 0.003 0 0 0 0 1 0 0 0 0 28 315147 chr2 47287996 47287996 A G rs752874925 TTC7A Synonymous SNV V393V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.314 315148 chr2 48027522 48027522 T C rs267608071 MSH6 Synonymous SNV V670V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.377 315149 chr2 70409090 70409090 C G rs149484668 C2orf42 Nonsynonymous SNV V10L 0 0 0.007 0 0 0 0 2 0 0 0 0 12.71 315150 chr12 5154156 5154156 G T rs755035314 KCNA5 Synonymous SNV L281L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.08 315151 chr12 52652117 52652117 C A KRT87P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 315152 chr12 52800015 52800016 CT - rs751397641 KRT82 S16Ffs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 315153 chr2 74320778 74320778 C T rs189570090 TET3 Synonymous SNV Y991Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 315154 chr2 74690327 74690327 T C MOGS Nonsynonymous SNV K256E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 315155 chr2 74901802 74901802 T C rs755915131 SEMA4F Nonsynonymous SNV W179R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315156 chr2 72362467 72362467 C T rs377118511 CYP26B1 Nonsynonymous SNV A96T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315157 chr2 74315082 74315082 C T rs115293949 TET3 Synonymous SNV L842L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.38 315158 chr2 74329156 74329156 G A rs548025111 TET3 Synonymous SNV G1654G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 315159 chr2 80646660 80646660 C T rs148134866 CTNNA2 Synonymous SNV S87S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.81 315160 chr2 74650622 74650622 C T rs747747324 WDR54 Nonsynonymous SNV R72W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315161 chr2 74720183 74720183 C T TTC31 Synonymous SNV G466G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.466 315162 chr2 74594836 74594836 A T DCTN1 Nonsynonymous SNV I590N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 315163 chr2 75107671 75107671 C T rs28363033 HK2 Synonymous SNV Y515Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.78 315164 chr2 79364570 79364570 T C rs11684223 REG1CP 0 0 0.007 0 0 0 0 2 0 0 1 0 0.605 315165 chr2 84928323 84928323 G A rs547686275 DNAH6 Nonsynonymous SNV V2641I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.667 315166 chr2 85051207 85051207 G A TRABD2A Nonsynonymous SNV L353F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.802 315167 chr12 53452117 53452117 G A TNS2 Synonymous SNV K381K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 315168 chr2 86305000 86305000 G A POLR1A Synonymous SNV N454N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.81 315169 chr2 9515068 9515068 G A rs535259662 ASAP2 Nonsynonymous SNV G581R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315170 chr2 88828651 88828651 T C rs58534105 TEX37 Nonsynonymous SNV Y68H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 315171 chr2 96809631 96809631 C A rs377434804 DUSP2 Synonymous SNV G292G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.32 315172 chr11 2632884 2632884 A C rs972630363 KCNQ1OT1 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 315173 chr2 97351735 97351735 T C rs114120697 FER1L5 Nonsynonymous SNV W652R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 315174 chr2 98274521 98274521 A G rs144577602 ACTR1B Synonymous SNV D270D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 315175 chr12 55523974 55523974 C T rs138102893 OR9K2 Nonsynonymous SNV A141V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 315176 chr1 182442775 182442775 C T RGSL1 Nonsynonymous SNV H177Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 315177 chr2 209108311 209108311 T C rs374474539 IDH1 Nonsynonymous SNV M180V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 315178 chr2 209190868 209190868 T G rs767765990 PIKFYVE Synonymous SNV S1111S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.991 315179 chr2 210569316 210569316 G A rs140853125 MAP2 Nonsynonymous SNV R220H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.32 315180 chr12 57589978 57589978 G A rs758822937 LRP1 Nonsynonymous SNV R2937H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 315181 chr12 57590787 57590787 G A rs757907147 LRP1 Nonsynonymous SNV R2972Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 315182 chr12 58160675 58160675 G C rs139558307 CYP27B1 Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.84 315183 chr11 380147 380147 G A rs761242637 B4GALNT4 Nonsynonymous SNV R887Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 315184 chr3 114070289 114070289 C T rs143932166 ZBTB20 Synonymous SNV P212P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 315185 chr2 220111532 220111532 C T rs372905234 STK16 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 315186 chr12 6649684 6649684 C T rs578039031 IFFO1 Nonsynonymous SNV D549N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 315187 chr12 6979268 6979268 C A TPI1 Nonsynonymous SNV A200E 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 315188 chr12 70087541 70087541 C T rs117505973 BEST3 Nonsynonymous SNV V26I 0.003 0 0 0 3 0 0 0 0 0 0 0 18.64 315189 chr3 123348434 123348434 G A rs375038682 MYLK Synonymous SNV N1491N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.49 315190 chr2 230657693 230657693 A G rs140527604 TRIP12 Synonymous SNV V1034V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 315191 chr12 80943388 80943388 A G PTPRQ Nonsynonymous SNV Q1215R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.332 315192 chr12 81769580 81769580 G A rs370246827 PPFIA2 Nonsynonymous SNV R277W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 315193 chr3 130104101 130104101 A G COL6A5 Synonymous SNV E585E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 315194 chr3 130287058 130287058 A G rs748978614 COL6A6 Nonsynonymous SNV K671E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 315195 chr3 132182581 132182581 C T rs199761143 DNAJC13 Synonymous SNV A604A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 315196 chr3 133339039 133339039 A G TOPBP1 Nonsynonymous SNV S1106P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 315197 chr11 4843057 4843057 A G rs144249814 OR51F2 Nonsynonymous SNV T136A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.96 315198 chr2 237489246 237489246 G A rs375172239 ACKR3 Synonymous SNV T46T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.317 315199 chr3 138456707 138456707 A G PIK3CB Nonsynonymous SNV S215P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 315200 chr2 242170177 242170177 G A HDLBP Synonymous SNV F1124F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.346 315201 chr1 222892656 222892656 T G BROX Nonsynonymous SNV I87S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.82 315202 chr13 103394756 103394756 C G CCDC168 Nonsynonymous SNV C2764S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.508 315203 chr1 225190500 225190500 C A DNAH14 Nonsynonymous SNV H282Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.874 315204 chr1 227842379 227842379 A G rs755384621 ZNF678 Nonsynonymous SNV H167R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.7 315205 chr3 173996766 173996766 A G rs761688886 NLGN1 Synonymous SNV S325S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.186 315206 chr12 7477189 7477189 G A rs753292073 ACSM4 Nonsynonymous SNV G511R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 315207 chr1 228509281 228509281 T A OBSCN Nonsynonymous SNV D4913E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 315208 chr13 28543113 28543113 C T CDX2 Nonsynonymous SNV V11M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 315209 chr3 187896882 187896882 - AGAG rs371121146 FLJ42393 0 0 0.01 0 0 0 0 3 0 0 0 0 315210 chr1 230468720 230468720 C A rs373642462 PGBD5 Synonymous SNV L381L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 315211 chr13 32990704 32990704 T C rs898621252 N4BP2L1 Nonsynonymous SNV S106G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.499 315212 chr3 194081485 194081485 G T LRRC15 Synonymous SNV A96A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 315213 chr13 43148653 43148653 G A rs142756983 TNFSF11 Nonsynonymous SNV A72T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21 315214 chr13 43566243 43566243 G A EPSTI1 Nonsynonymous SNV P20L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 315215 chr3 197562606 197562606 C T rs777464715 LRCH3 Synonymous SNV A388A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 315216 chr3 19929959 19929959 T C rs752217869 EFHB Nonsynonymous SNV Y637C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.34 315217 chr3 3139820 3139820 C A IL5RA 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 315218 chr3 38163894 38163912 CCAGCCCTGAGGCTCCGCC - rs752498835 DLEC1 E1715Qfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 315219 chr3 38407216 38407216 C T rs574064205 XYLB Nonsynonymous SNV R29C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 315220 chr13 96293986 96293986 G T rs561894113 DZIP1 Nonsynonymous SNV P54T 0.001 0 0 0 1 0 0 0 0 0 0 0 23 315221 chr3 46010147 46010147 C T rs759594780 FYCO1 Nonsynonymous SNV E227K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315222 chr3 46307513 46307513 G T rs762719750 CCR3 Synonymous SNV V288V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.956 315223 chr14 102551163 102551163 T A rs55793809 HSP90AA1 Nonsynonymous SNV K279M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 315224 chr3 45872578 45872578 G T rs200048372 LZTFL1 Nonsynonymous SNV T170N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 315225 chr3 50097122 50097122 C T RBM6 Nonsynonymous SNV P202L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 315226 chr3 47049806 47049806 G A rs753184460 NBEAL2 Nonsynonymous SNV G2551R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315227 chr3 51749787 51749787 G T rs748298088 GRM2 Nonsynonymous SNV E288D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 315228 chr3 47125527 47125527 C G rs755706240 SETD2 Nonsynonymous SNV V1871L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 315229 chr3 49294049 49294049 C T rs750691051 CCDC36 Synonymous SNV S373S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 315230 chr3 50684593 50684593 C T MAPKAPK3 Stop gain R319X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 315231 chr14 105613018 105613018 C T rs139751287 JAG2 Synonymous SNV T803T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 17.9 315232 chr3 50391061 50391061 C T CYB561D2 Synonymous SNV A185A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.514 315233 chr14 105643061 105643061 C G NUDT14 Nonsynonymous SNV A80P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.83 315234 chr14 105958575 105958575 C G TEDC1 Nonsynonymous SNV R120G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 315235 chr3 53852082 53852082 G A rs574370935 CHDH Nonsynonymous SNV R503W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 315236 chr3 56653825 56653825 C G rs377002691 CCDC66 Nonsynonymous SNV L853V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 315237 chr3 87309046 87309046 A G POU1F1 X292Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 315238 chr3 64143000 64143000 C T rs149786687 PRICKLE2 Synonymous SNV A146A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.94 315239 chr3 9034724 9034724 G A rs200724802 SRGAP3 Synonymous SNV S784S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 315240 chr2 238244873 238244873 G A COL6A3 Nonsynonymous SNV A2350V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.83 315241 chr11 6260645 6260645 G T rs765442437 CNGA4 Nonsynonymous SNV D32Y 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 315242 chr14 24878553 24878553 C T rs375391398 NYNRIN Nonsynonymous SNV T518I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.228 315243 chr11 62984785 62984785 C G SLC22A25 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 315244 chr4 100572193 100572193 T C C4orf54 Nonsynonymous SNV T1205A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 315245 chr14 35008805 35008805 G C rs773929653 EAPP Synonymous SNV P10P 0.003 0 0 0 3 0 0 0 0 0 0 0 1.378 315246 chr4 107092387 107092387 C T TBCK Synonymous SNV L637L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 315247 chr4 111482706 111482706 A G ENPEP Nonsynonymous SNV S956G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 315248 chr4 1210566 1210566 G A rs558468337 CTBP1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 2.976 315249 chr11 65359730 65359730 T G rs763907537 EHBP1L1 Nonsynonymous SNV L752R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 315250 chr4 1244682 1244682 A C rs11554784 CTBP1-DT 0 0 0.007 0 0 0 0 2 0 0 0 0 1.819 315251 chr4 128851902 128851902 T C rs77098161 MFSD8 Nonsynonymous SNV I207V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.68 315252 chr4 13462369 13462369 G A rs779235223 RAB28 Synonymous SNV S115S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 315253 chr4 141600230 141600230 G A rs200383438 TBC1D9 Synonymous SNV N239N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 315254 chr14 67691870 67691870 C G rs1034267996 FAM71D Nonsynonymous SNV L409V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 315255 chr4 154271281 154271284 AGTA - MND1 D25Mfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 315256 chr4 155526029 155526029 G A rs141597421 FGG Nonsynonymous SNV A440V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 315257 chr3 142408506 142408506 A T rs146967957 PLS1 Nonsynonymous SNV D343V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.4 315258 chr14 73727915 73727915 C T rs146740904 PAPLN Nonsynonymous SNV R720W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 315259 chr3 148857794 148857794 A G rs762341889 HPS3 Nonsynonymous SNV D74G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 315260 chr4 156724842 156724842 C G rs371047617 GUCY1B1 Nonsynonymous SNV R426G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 315261 chr4 160273989 160273989 A G rs769339409 RAPGEF2 Nonsynonymous SNV I1179V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.946 315262 chr14 74983646 74983646 T A LTBP2 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 315263 chr4 162697125 162697125 C T rs201030606 FSTL5 Nonsynonymous SNV D170N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 315264 chr4 1719954 1719954 T A rs374764521 TMEM129 Nonsynonymous SNV D202V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 315265 chr4 174254029 174254029 G A rs761729686 HMGB2 Synonymous SNV A138A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.604 315266 chr2 73680296 73680296 C T rs1052653825 ALMS1 Synonymous SNV S2213S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.609 315267 chr14 81259336 81259336 T C rs45488095 CEP128 Nonsynonymous SNV Q443R 0.003 0 0 0 3 0 0 0 0 0 0 0 Likely benign 23.8 315268 chr4 1801143 1801143 C T rs144995231 FGFR3 Nonsynonymous SNV P91L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.44 315269 chr14 50101445 50101445 G A rs373251065 DNAAF2 Synonymous SNV V141V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.264 315270 chr4 183609398 183609398 A G TENM3 Synonymous SNV P705P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.941 315271 chr14 86088159 86088159 G A FLRT2 Nonsynonymous SNV D101N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 315272 chr3 44489783 44489783 G C ZNF445 Nonsynonymous SNV D448E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.49 315273 chr11 824021 824021 C T rs150385364 PNPLA2 Nonsynonymous SNV P315S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 17.52 315274 chr2 99978078 99978078 C T rs750268998 EIF5B Synonymous SNV R238R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 315275 chr4 30723408 30723408 A G PCDH7 Nonsynonymous SNV S122G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 315276 chr4 3418803 3418803 T C rs749110968 RGS12 Nonsynonymous SNV V216A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.366 315277 chr4 36160432 36160432 T G rs145879243 ARAP2 Nonsynonymous SNV Q891P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.356 315278 chr4 39450268 39450268 C A rs373228895 KLB Nonsynonymous SNV H1033N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.091 315279 chr11 9082038 9082038 C T rs367701920 SCUBE2 Nonsynonymous SNV R295H 0 0.003 0 0 0 1 0 0 0 0 0 0 29 315280 chr4 41615664 41615664 G A rs1052370918 LIMCH1 Nonsynonymous SNV R69K 0 0 0.003 0 0 0 0 1 0 0 0 0 31 315281 chr14 73721243 73721243 G C rs773716928 PAPLN Nonsynonymous SNV G442A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 315282 chr11 94320335 94320335 C G PIWIL4 Nonsynonymous SNV A279G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 315283 chr14 75139800 75139800 C T rs186631279 AREL1 Nonsynonymous SNV R427H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 315284 chr15 40557146 40557146 G A rs147960311 BUB1B-PAK6, PAK6 Nonsynonymous SNV V54M 0.001 0 0 0 1 0 0 0 0 0 0 0 42 315285 chr4 56277973 56277973 A G rs766323517 TMEM165 Nonsynonymous SNV M134V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 315286 chr12 104383302 104383302 G A GLT8D2 Nonsynonymous SNV L312F 0 0.003 0 0 0 1 0 0 0 0 0 0 32 315287 chr15 42152827 42152827 C T rs757671548 SPTBN5 Nonsynonymous SNV E2649K 0.003 0 0 0 4 0 0 0 0 0 0 0 15.81 315288 chr15 42156125 42156125 C T rs990360524 SPTBN5 Nonsynonymous SNV R2339Q 0.003 0 0 0 3 0 0 0 0 0 0 0 18.95 315289 chr2 135206338 135206338 G A rs200390028 MGAT5 Nonsynonymous SNV A716T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 315290 chr2 135621071 135621071 T C ACMSD Nonsynonymous SNV M61T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 315291 chr4 71697344 71697344 G A rs202090491 GRSF1 Stop gain R126X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 315292 chr4 71701950 71701950 C T rs201196367 GRSF1 Nonsynonymous SNV D147N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 315293 chr4 73927540 73927540 G A rs138323566 COX18 Nonsynonymous SNV T276M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315294 chr15 45406932 45406932 G C rs371768247 DUOXA2 Synonymous SNV P43P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 315295 chr4 7705048 7705048 C T rs141596296 SORCS2 Synonymous SNV G570G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 315296 chr4 7719828 7719828 G A rs760356538 SORCS2 Nonsynonymous SNV R781Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 315297 chr15 48500185 48500185 A T SLC12A1 Nonsynonymous SNV D90V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 315298 chr15 50189591 50189591 A C rs774994077 ATP8B4 Synonymous SNV S865S 0.002 0 0 0 2 0 0 0 0 0 0 0 1.312 315299 chr4 79173631 79173631 C T rs376122558 FRAS1 Nonsynonymous SNV P132L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.609 315300 chr22 40082380 40082380 G C rs771193047 CACNA1I Synonymous SNV P2179P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.09 315301 chr4 7941208 7941208 C T rs767410134 LOC389199 Nonsynonymous SNV R106C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 315302 chr4 81952456 81952456 G A rs368705872 BMP3 Synonymous SNV R6R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.436 315303 chr3 105470458 105470458 T C rs548001919 CBLB Nonsynonymous SNV I142V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 315304 chr4 83294722 83294722 - CCCCCTGTGTCGCCGCCA HNRNPD G36_A37insVAATQG 0 0 0.003 0 0 0 0 1 0 0 0 0 315305 chr4 84328688 84328688 G T rs1032846697 HELQ Nonsynonymous SNV A1008D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 315306 chr4 8582984 8582984 A G rs376898264 GPR78 Nonsynonymous SNV N92S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 315307 chr4 87622684 87622684 G A rs560464621 PTPN13 Nonsynonymous SNV A309T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.162 315308 chr4 24801664 24801702 TGGGCCGGGCCGTGGTCGTCCACGCTGGCGAGGACGACC - rs759285890 SOD3 A177_R189del 0.001 0 0 0 1 0 0 0 0 0 0 0 315309 chr4 88363026 88363026 G A rs546726597 NUDT9 Synonymous SNV G131G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.757 315310 chr15 65555539 65555539 G A rs201211739 PARP16 Synonymous SNV A98A 0.002 0 0 0 2 0 0 0 0 0 0 0 17.49 315311 chr3 121351293 121351293 - CTCAGGCTCAGG rs778252095 HCLS1 E338_N339insPEPE 0.001 0 0 0 1 0 0 0 0 0 0 0 315312 chr3 121351315 121351315 G A rs80289672 HCLS1 Synonymous SNV P331P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 315313 chr5 111755421 111755431 CGGAAGAGAGG - EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 315314 chr15 68657092 68657092 G A rs761808597 ITGA11 Nonsynonymous SNV R104C 0.002 0 0 0 2 0 0 0 0 0 0 0 34 315315 chr12 12247469 12247469 T A rs775406284 BCL2L14 Nonsynonymous SNV L235M 0 0.003 0 0 0 1 0 0 0 0 0 0 8.04 315316 chr5 112177678 112177678 G A rs374310157 APC Synonymous SNV S2111S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.079 315317 chr5 112238083 112238083 C T rs149576106 REEP5 Nonsynonymous SNV M115I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315318 chr15 74709764 74709764 G A rs1050613203 SEMA7A Synonymous SNV I177I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.62 315319 chr15 75042122 75042122 C T rs60086777 CYP1A2 Nonsynonymous SNV L15F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 315320 chr5 125930724 125930724 T C ALDH7A1 Nonsynonymous SNV N56S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.18 315321 chr15 42743135 42743135 G A rs772438837 ZNF106 Synonymous SNV S422S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 315322 chr3 126260589 126260589 C A rs574367973 CHST13 Nonsynonymous SNV T65N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.447 315323 chr3 126571529 126571529 C T rs137859632 CHCHD6 Nonsynonymous SNV R152C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 315324 chr4 76896921 76896921 A G rs140040693 SDAD1 Nonsynonymous SNV I148T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 315325 chr5 137520208 137520208 A G rs377556004 KIF20A Nonsynonymous SNV H509R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 315326 chr15 86312401 86312401 A G rs752124650 KLHL25 Nonsynonymous SNV I214T 0.003 0 0 0 3 0 0 0 0 0 0 0 18.35 315327 chr3 136677044 136677044 G A rs766422857 IL20RB 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 315328 chr5 140712341 140712341 C T rs140634036 PCDHGA1 Nonsynonymous SNV A697V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 315329 chr5 140712382 140712382 C T rs199711240 PCDHGA1 Synonymous SNV L711L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.446 315330 chrX 65409691 65409691 T A HEPH Nonsynonymous SNV I58N 0 0 0 2 0 0 0.005 0 0 0 0 1 25.3 315331 chr2 189873690 189873690 C A COL3A1 Nonsynonymous SNV P1189H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 315332 chr3 150403803 150403803 A G ERICH6 Nonsynonymous SNV W60R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 315333 chr5 142513652 142513652 G A rs182686164 ARHGAP26 Nonsynonymous SNV V607I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.472 315334 chr15 99192757 99192765 TTTTTTTTT - IRAIN 0.001 0 0 0 1 0 0 0 0 0 0 0 315335 chr12 2974539 2974559 CAATTGTGGAGACCCTGGGTC - rs760965540 FOXM1 D328_L334del 0 0.003 0 0 0 1 0 0 0 0 0 0 315336 chr2 207636983 207636983 A T rs140778319 FASTKD2 Nonsynonymous SNV D398V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.284 315337 chr16 1417762 1417762 C T UNKL Synonymous SNV S60S 0.002 0 0 0 2 0 0 0 0 0 0 0 12.85 315338 chr16 1451620 1451620 C T UNKL Nonsynonymous SNV A183T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 315339 chr16 14687211 14687211 T C rs780700912 PARN Nonsynonymous SNV M243V 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 315340 chr5 15928155 15928155 G T FBXL7 Nonsynonymous SNV R48L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 315341 chr2 211320037 211320037 A C rs143538630 LANCL1 Synonymous SNV G67G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 315342 chr3 184008833 184008833 G A rs138050343 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV E585K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 315343 chr2 216271052 216271052 G A rs757338869 FN1 Synonymous SNV T965T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 315344 chr12 48096547 48096547 C A rs374367674 RPAP3 Nonsynonymous SNV R26L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 315345 chr4 147561066 147561066 G A POU4F2 Synonymous SNV E112E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.774 315346 chr4 152682134 152682134 T C rs775795434 GATB Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 315347 chr15 83926652 83926652 C G BNC1 Nonsynonymous SNV E836Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 315348 chr16 2004022 2004022 G A rs148367011 RPL3L Nonsynonymous SNV T44M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.7 315349 chr5 176308451 176308451 C G HK3 Nonsynonymous SNV E827Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 315350 chr16 20359789 20359789 C T rs757073233 UMOD Synonymous SNV A278A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 315351 chr16 20396116 20396116 T G rs534001534 PDILT Nonsynonymous SNV E87A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 315352 chr5 176936647 176936647 G A rs200684546 DOK3 Synonymous SNV D21D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 315353 chr3 193385059 193385059 G A rs117475774 OPA1 Synonymous SNV A900A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.29 315354 chr5 178421877 178421877 C T rs954810080 GRM6 Synonymous SNV Q23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 315355 chr5 180050959 180050959 G A rs558788566 FLT4 Synonymous SNV T508T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 315356 chr2 225666739 225666739 A G DOCK10 Synonymous SNV S1423S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.021 315357 chr5 34937619 34937619 C T rs753129989 DNAJC21 Synonymous SNV F209F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 315358 chr2 227660641 227660641 A G rs142101835 IRS1 Synonymous SNV T938T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.636 315359 chr16 30007672 30007672 A C INO80E Nonsynonymous SNV K14T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 315360 chr10 1061766 1061766 C T rs373695235 GTPBP4 Nonsynonymous SNV P561L 0 0 0 1 0 0 0.003 0 0 0 0 0 17.91 315361 chr5 40981603 40981603 G T rs369115220 C7 Synonymous SNV A820A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.476 315362 chr5 40843539 40843539 C A rs774583004 CARD6 Nonsynonymous SNV T190N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 315363 chr16 31151675 31151675 G C PRSS36 Synonymous SNV G738G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 315364 chr5 50124210 50124210 C T rs765342250 PARP8 Stop gain R677X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 315365 chr5 52360834 52360834 C T rs753801379 ITGA2 Synonymous SNV N565N 0 0 0.007 0 0 0 0 2 0 0 0 0 13.32 315366 chr2 234354341 234354341 G A rs909591459 DGKD Nonsynonymous SNV D379N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 315367 chr12 55794580 55794580 A T OR6C65 Nonsynonymous SNV I90F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 315368 chr5 64756164 64756164 T C rs141587320 ADAMTS6 Nonsynonymous SNV H155R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 315369 chr12 55794581 55794581 T G OR6C65 Nonsynonymous SNV I90S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 315370 chr4 5800505 5800505 A - EVC R764Gfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 315371 chr16 4626335 4626335 G C C16orf96 Synonymous SNV G618G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.532 315372 chr16 4864619 4864619 A G rs767695937 GLYR1 Synonymous SNV R225R 0.002 0 0 0 2 0 0 0 0 0 0 0 7.39 315373 chr2 238249201 238249201 G A rs113423040 COL6A3 Synonymous SNV F2179F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.326 315374 chr5 71499463 71499463 C T rs773262539 MAP1B Synonymous SNV Y2236Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 315375 chr12 57110554 57110554 G A rs373475432 NACA Nonsynonymous SNV P1587L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.852 315376 chr5 76249908 76249908 C T rs79810800 CRHBP Nonsynonymous SNV P77L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 315377 chr5 39311336 39311336 A T rs141600725 C9 Nonsynonymous SNV F338L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 315378 chr5 76926479 76926479 G C rs368862933 OTP Synonymous SNV G196G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 315379 chr4 8621344 8621344 G T rs753883265 CPZ X642Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.838 315380 chr2 241511977 241511977 C T rs767217987 RNPEPL1 Synonymous SNV V222V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 315381 chr16 20975417 20975417 C A DNAH3 Synonymous SNV L3217L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.336 315382 chr16 57847622 57847622 C T LOC388282 Nonsynonymous SNV P42L 0.003 0 0 0 3 0 0 0 0 0 0 0 3.593 315383 chr2 242004846 242004846 G A SNED1 Nonsynonymous SNV D949N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 315384 chr10 129904761 129904761 G A rs139410096 MKI67 Synonymous SNV A1421A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.52 315385 chr12 64895147 64895147 G A rs773456585 TBK1 Nonsynonymous SNV V726I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.6 315386 chr4 36149295 36149295 T A ARAP2 Nonsynonymous SNV D1025V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 315387 chr16 68598300 68598300 G A rs369659817 ZFP90 Nonsynonymous SNV R537H 0.003 0 0 0 3 0 0 0 0 0 0 0 22.1 315388 chr3 8787313 8787313 C G rs116840776 CAV3 Nonsynonymous SNV C72W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24 315389 chr16 71318483 71318483 C T rs375814094 CMTR2 Synonymous SNV R447R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.49 315390 chr16 333284 333284 C T rs45455191 PDIA2 Nonsynonymous SNV P39S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 315391 chr16 774191 774191 G T rs755099737 CCDC78 Nonsynonymous SNV P323H 0.002 0 0 0 2 0 0 0 0 0 0 0 14.04 315392 chr6 116836826 116836826 C T rs199849392 CALHM5 Nonsynonymous SNV R202C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 315393 chr5 88056927 88056927 C A rs997329230 MEF2C Stop gain E92X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 38 315394 chr4 66467372 66467372 A G rs573262067 EPHA5 Synonymous SNV N299N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 315395 chr6 126242185 126242185 G A rs761962470 NCOA7 Nonsynonymous SNV A58T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.14 315396 chr16 4659880 4659880 G A rs551552810 UBALD1 Synonymous SNV S71S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 315397 chr16 84228772 84228772 G T rs370828313 ADAD2 Synonymous SNV G235G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.138 315398 chr10 21805377 21805377 C G rs762090291 SKIDA1 Nonsynonymous SNV V459L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 315399 chr5 95236680 95236680 T A rs35478317 ELL2 Synonymous SNV S282S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 315400 chr4 71634267 71634267 A G rs979710113 RUFY3 Synonymous SNV E195E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.6 315401 chr6 138754505 138754505 G A rs368676947 NHSL1 Nonsynonymous SNV P330L 0 0 0.003 0 0 0 0 1 0 0 0 0 26 315402 chr6 14135465 14135465 T C rs777553696 CD83 X205R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 315403 chr16 55883653 55883653 G A rs377067784 CES5A Nonsynonymous SNV R436W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 315404 chr6 147122877 147122877 T C rs17076305 KATNBL1P6 0 0 0.003 0 0 0 0 1 0 0 0 0 4.037 315405 chr16 624496 624496 T C rs751953516 PIGQ Nonsynonymous SNV L141P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 315406 chr16 626161 626161 G T rs373615860 PIGQ Synonymous SNV L283L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.436 315407 chr4 89015762 89015762 T C rs147547385 ABCG2 Nonsynonymous SNV M593V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.544 315408 chr16 89882985 89882985 C A FANCA Nonsynonymous SNV Q13H 0.003 0 0 0 3 0 0 0 0 0 0 0 0.731 315409 chr6 159660843 159660843 G A FNDC1 Nonsynonymous SNV R1492Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 315410 chr16 70190585 70190585 G A rs774550567 PDPR Nonsynonymous SNV G715S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 315411 chr13 111767927 111767927 G T rs148401402 ARHGEF7 Nonsynonymous SNV E18D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 315412 chr3 46563094 46563094 A C rs773121043 LRRC2 Nonsynonymous SNV N328K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 315413 chr3 46775581 46775581 G A rs978393964 PRSS46P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.177 315414 chr6 168299046 168299046 G A rs780954787 AFDN Synonymous SNV A477A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.1 315415 chr5 140719841 140719841 G A PCDHGA2 Nonsynonymous SNV D435N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.267 315416 chr3 47449886 47449886 T C PTPN23 Synonymous SNV D286D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.486 315417 chr6 170105334 170105334 A G rs938395305 PHF10 Nonsynonymous SNV C436R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 315418 chr4 113568064 113568064 G A LARP7 Nonsynonymous SNV A169T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 315419 chr16 779430 779430 C A rs372809550 HAGHL Nonsynonymous SNV A248D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 315420 chr6 25850368 25850368 C A rs565447326 SLC17A3 Nonsynonymous SNV W266L 0 0 0.003 0 0 0 0 1 0 0 0 0 15 315421 chr6 26234939 26234939 C T rs2050949 HIST1H1D Nonsynonymous SNV E75K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 315422 chr3 52546388 52546388 G A rs764309371 STAB1 Nonsynonymous SNV R972Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 315423 chr3 52550451 52550451 C T rs377262427 STAB1 Synonymous SNV G1408G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 315424 chr6 2890685 2890685 T C rs142958579 SERPINB9 Synonymous SNV E281E 0 0 0.007 0 0 0 0 2 0 0 0 0 1.1 315425 chr13 39266327 39266327 T C rs755238761 FREM2 Nonsynonymous SNV F1616L 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 315426 chr3 52819197 52819197 T G rs374657373 ITIH1 Nonsynonymous SNV I227M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 315427 chr4 138451925 138451925 T - PCDH18 R440Gfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 315428 chr13 44462939 44462939 T C LACC1 Synonymous SNV A318A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.59 315429 chr13 45563562 45563562 G A rs770333243 NUFIP1 Nonsynonymous SNV P4S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.971 315430 chr17 27284183 27284183 C T SEZ6 Nonsynonymous SNV A858T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 315431 chr6 35088799 35088799 C T rs778219246 TCP11 Nonsynonymous SNV R60Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 315432 chr17 27382121 27382121 G C rs560458958 PIPOX Nonsynonymous SNV R283P 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 315433 chr17 27382156 27382156 G A rs149080850 PIPOX Nonsynonymous SNV V295I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.072 315434 chr4 149357185 149357185 T C NR3C2 Synonymous SNV P276P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 315435 chr6 35423672 35423672 C T rs759124595 FANCE Nonsynonymous SNV L133F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.7 315436 chr16 848809 848809 G A rs143779506 GNG13 Synonymous SNV I38I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.793 315437 chr3 62189400 62189400 A G rs370839444 PTPRG Nonsynonymous SNV H644R 0.002 0 0 0 2 0 0 0 0 0 0 0 0.007 315438 chr17 31105590 31105590 C T MYO1D Synonymous SNV G102G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.05 315439 chr6 41743287 41743287 C T rs756142321 FRS3 Synonymous SNV T41T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 315440 chr10 79397344 79397344 - CCGCCGCCGCCGCCGCCGCCGCTGCTG KCNMA1 G19_G20insSSGGGGGGG 0 0 0 1 0 0 0.003 0 0 0 0 0 315441 chr10 79565571 79565571 A T DLG5 Nonsynonymous SNV D1672E 0 0 0 2 0 0 0.005 0 0 0 0 0 3.395 315442 chr6 41565651 41565651 A G FOXP4 Nonsynonymous SNV S620G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 315443 chr6 42672301 42672301 A T rs760803268 PRPH2 Synonymous SNV P210P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.096 315444 chr17 34074252 34074252 G A rs145983645 GAS2L2 Nonsynonymous SNV P290S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.556 315445 chr16 88798203 88798203 C T rs769506340 PIEZO1 Nonsynonymous SNV R1036H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 315446 chr3 98072851 98072851 G A rs139874815 OR5K4 Nonsynonymous SNV E52K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 315447 chr6 43581401 43581401 C T rs944869995 POLH Nonsynonymous SNV P293S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 315448 chr4 170913366 170913366 G A rs751263509 MFAP3L Synonymous SNV Y28Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 315449 chr16 89017166 89017166 G A LOC100129697 Nonsynonymous SNV A214T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.893 315450 chr4 183676000 183676000 C T TENM3 Nonsynonymous SNV R1494W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 315451 chr17 37863384 37863384 C T ERBB2 Nonsynonymous SNV S72F 0.002 0 0 0 2 0 0 0 0 0 0 0 25.3 315452 chr3 111426940 111426940 C T rs199703580 PLCXD2 Nonsynonymous SNV R111C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 315453 chr17 38499075 38499075 A G rs764523968 RARA Nonsynonymous SNV Y40C 0.002 0 0 0 2 0 0 0 0 0 0 0 16.77 315454 chr6 51768795 51768795 C T rs142526715 PKHD1 Nonsynonymous SNV G2285E 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 11.36 315455 chr6 12122510 12122510 G A rs2228218 HIVEP1 Nonsynonymous SNV V828I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 315456 chr6 12123018 12123018 C G rs746771188 HIVEP1 Nonsynonymous SNV P997R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 315457 chr6 12123192 12123192 C T rs35927245 HIVEP1 Nonsynonymous SNV S1055F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.306 315458 chr6 7232012 7232012 C T rs201806925 RREB1 Nonsynonymous SNV P1227L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 315459 chr6 18439966 18439966 T G rs768571953 RNF144B Nonsynonymous SNV F108V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 315460 chr17 39728202 39728202 C T rs376253549 KRT9 Nonsynonymous SNV G15S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.41 315461 chr6 24651164 24651164 C T rs781613923 TDP2 Nonsynonymous SNV R314H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 35 315462 chr17 39921283 39921283 C T rs782285849 JUP Nonsynonymous SNV V316M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 33 315463 chr7 100491641 100491641 T C rs772646929 ACHE Synonymous SNV P71P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 315464 chr6 39159001 39159001 C T rs148036963 KCNK5 Nonsynonymous SNV E389K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.04 315465 chr7 100550511 100550511 G T rs74435283 MUC3A Nonsynonymous SNV E364D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.66 315466 chr5 43039764 43039764 G T ANXA2R Nonsynonymous SNV P129T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.264 315467 chr17 32963144 32963144 G A rs776685272 TMEM132E Nonsynonymous SNV R699Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.85 315468 chr17 48562113 48562113 G A rs778284186 RSAD1 Nonsynonymous SNV R407Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 33 315469 chr17 34122318 34122318 C T rs757238191 MMP28 Nonsynonymous SNV A22T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.76 315470 chr3 151176422 151176422 C T rs199637739 IGSF10 Nonsynonymous SNV G26S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 315471 chr3 152058228 152058228 - T TMEM14EP 0.001 0 0 0 1 0 0 0 0 0 0 0 315472 chr7 100856151 100856151 T C rs771747385 PLOD3 Nonsynonymous SNV Q284R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 315473 chr7 100875971 100875971 C T rs764532136 CLDN15 Synonymous SNV G165G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 315474 chr6 52343980 52343980 C T EFHC1 Nonsynonymous SNV P475L 0 0 0 1 0 0 0.003 0 0 0 0 0 31 315475 chr5 74014629 74014629 C T rs28942073 HEXB Nonsynonymous SNV P417L 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 22.9 315476 chr17 59984917 59984917 T C rs200844149 INTS2 Nonsynonymous SNV T345A 0.003 0 0 0 3 0 0 0 0 0 0 0 9.109 315477 chr11 1093619 1093619 - ACAGACCCCAACAAC MUC2 M1813delinsIQTPTT 0 0 0 1 0 0 0.003 0 0 0 0 0 315478 chr17 62006812 62006812 C T CD79B Synonymous SNV E88E 0.003 0 0 0 3 0 0 0 0 0 0 0 11.08 315479 chr17 62082685 62082685 G A rs898333872 ICAM2 Nonsynonymous SNV A37V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 315480 chr17 648335 648335 A T GEMIN4 Nonsynonymous SNV F983Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 315481 chr6 82882197 82882197 G A rs141826666 IBTK Nonsynonymous SNV S1262F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 315482 chr17 65103537 65103537 C T rs376897741 HELZ Synonymous SNV S1664S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.169 315483 chr3 185198193 185198193 C T rs544421900 MAP3K13 Nonsynonymous SNV T685M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 315484 chr7 129691067 129691067 A G rs144709023 ZC3HC1 Nonsynonymous SNV W11R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.341 315485 chr7 134719117 134719117 A C rs971516257 AGBL3 Nonsynonymous SNV I259L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 315486 chr7 139762347 139762347 C G rs758704001 PARP12 Nonsynonymous SNV G101R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 315487 chr7 142965267 142965267 G A rs375056570 GSTK1 Synonymous SNV A263A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 315488 chr7 143092011 143092011 G A rs145070507 EPHA1 Nonsynonymous SNV R748W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 315489 chr7 143216142 143216142 A C rs541802833 EPHA1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.838 315490 chr7 149543277 149543277 C T rs767113245 ZNF862 Synonymous SNV F58F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 315491 chr17 73826456 73826456 G A rs565976477 UNC13D Synonymous SNV P939P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 315492 chr7 150389759 150389759 G C GIMAP2 Nonsynonymous SNV V129L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 315493 chr7 150648180 150648180 G A rs553107049 KCNH2 Synonymous SNV N318N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.265 315494 chr7 150783914 150783914 A G AGAP3 Nonsynonymous SNV Q29R 0 0 0.007 0 0 0 0 2 0 0 1 0 0.013 315495 chr14 68193714 68193714 C T rs749242059 RDH12 Synonymous SNV T155T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 315496 chr7 156433220 156433220 G A rs569330869 LINC01006 0 0 0.01 0 0 0 0 3 0 0 0 0 9.378 315497 chr6 146920067 146920067 T C rs558691653 LOC101928661 0.001 0 0 0 1 0 0 0 0 0 0 0 0.235 315498 chr17 7667277 7667277 C T rs200259470 DNAH2 Nonsynonymous SNV A1036V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.5 315499 chr7 21788208 21788208 A G rs199789835 DNAH11 Nonsynonymous SNV S2841G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 315500 chr7 26223348 26223348 T C rs751702041 NFE2L3 Nonsynonymous SNV F260L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.939 315501 chr17 78079665 78079665 G A rs374569672 GAA Nonsynonymous SNV V222M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 24.2 315502 chr7 27228389 27228389 G C rs900170811 HOXA11-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 315503 chr17 78395647 78395647 G A rs759977970 ENDOV Nonsynonymous SNV R83H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 315504 chr17 7849189 7849189 G A rs199521188 CNTROB Synonymous SNV A626A 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 315505 chr17 60045479 60045479 C T rs34805963 MED13 Nonsynonymous SNV A1370T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 315506 chr17 60045568 60045568 T C rs201924401 MED13 Nonsynonymous SNV Y1340C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 315507 chr17 61615827 61615827 - GCACTGCTGCA KCNH6 Frameshift insertion P593Cfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 315508 chr17 62075823 62075823 G - PRR29-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 315509 chr7 43917425 43917425 G A rs369338342 URGCP Nonsynonymous SNV S537L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.637 315510 chr7 43495994 43495994 G C HECW1 Nonsynonymous SNV D833H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 315511 chr6 168370527 168370527 G A rs770702200 AFDN Nonsynonymous SNV R1715H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 315512 chr17 8109861 8109861 C G rs149651741 AURKB Nonsynonymous SNV G44R 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 33 315513 chr4 36296430 36296430 A G rs563179017 DTHD1 Nonsynonymous SNV D181G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 315514 chr17 8273319 8273319 A G KRBA2 Synonymous SNV I122I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.918 315515 chr17 6594186 6594186 A G rs139005493 SLC13A5 Nonsynonymous SNV L407S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 315516 chr7 4827858 4827858 C T rs374146548 AP5Z1 Nonsynonymous SNV R354W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 315517 chr7 6062967 6062967 C T rs766467029 AIMP2 Nonsynonymous SNV T134M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 315518 chr7 6312116 6312116 - CGC CYTH3 G7_E8insG 0.001 0 0 0 1 0 0 0 0 0 0 0 315519 chr15 30053418 30053418 G A rs146368873 TJP1 Nonsynonymous SNV R312W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 315520 chr18 264032 264032 T C rs200172012 THOC1 Nonsynonymous SNV T84A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.35 315521 chr7 73085563 73085563 C T rs532291209 VPS37D Nonsynonymous SNV R205W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 315522 chr7 65547882 65547882 A G ASL Nonsynonymous SNV T103A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.333 315523 chr7 7412882 7412882 G A rs368864863 COL28A1 Synonymous SNV N885N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.884 315524 chr17 7224120 7224120 G A rs375197335 NEURL4 Synonymous SNV I1159I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 315525 chr7 75609758 75609758 C T rs782247991 POR Synonymous SNV Y156Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 315526 chr7 19765267 19765267 A C TMEM196 Nonsynonymous SNV L110R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 315527 chr7 19765268 19765268 G T TMEM196 Nonsynonymous SNV L110I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 315528 chr7 79840345 79840345 A C rs769627382 GNAI1 Synonymous SNV G165G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.449 315529 chr7 80293775 80293779 AAGTA - rs748431584 CD36 K68Cfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 315530 chr7 21906254 21906254 G A rs72658812 DNAH11 Nonsynonymous SNV R3888H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 315531 chr18 44266138 44266138 G A rs758179870 ST8SIA5 Nonsynonymous SNV R159W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 315532 chr7 27284721 27284721 A G EVX1 Nonsynonymous SNV K161R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.13 315533 chr7 99489993 99489993 G C TRIM4 Nonsynonymous SNV F406L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 315534 chr18 56202469 56202469 C T rs763480326 ALPK2 Synonymous SNV A1650A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 12.04 315535 chr8 101541894 101541894 C T ANKRD46 Synonymous SNV G56G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 315536 chr5 176916529 176916529 C T rs371832104 PDLIM7 Nonsynonymous SNV R245Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 315537 chr11 46332638 46332638 C T rs372951534 CREB3L1 Synonymous SNV D217D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.9 315538 chr11 4673913 4673913 C T rs200858824 OR51E1 Nonsynonymous SNV R53W 0 0 0 1 0 0 0.003 0 0 0 0 0 4.486 315539 chr17 7756621 7756621 G T rs141627015 KDM6B Nonsynonymous SNV A1611S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 315540 chr8 120942068 120942068 T C rs536213510 DEPTOR Synonymous SNV H105H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.26 315541 chr8 124707943 124707943 C T ANXA13 Nonsynonymous SNV E126K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 315542 chr7 65551738 65551738 G A rs28941473 ASL Nonsynonymous SNV V178M 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 15.56 315543 chr15 50497538 50497538 G A rs554769451 SLC27A2 Nonsynonymous SNV R264Q 0 0.003 0 0 0 1 0 0 0 0 0 0 31 315544 chr8 127569600 127569600 C T rs763691132 LRATD2 Nonsynonymous SNV S12N 0 0 0.007 0 0 0 0 2 0 0 0 0 14.33 315545 chr8 134276873 134276873 T C rs2233318 NDRG1 Nonsynonymous SNV H41R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.54 315546 chr8 135490853 135490853 C T rs748820813 ZFAT Nonsynonymous SNV V1104M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315547 chr8 142228377 142228377 G A rs755160368 SLC45A4 Synonymous SNV S403S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.06 315548 chr8 144063772 144063772 C T rs562561037 LY6E-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 315549 chr19 1095297 1095297 C A rs750105802 POLR2E Nonsynonymous SNV E6D 0.002 0 0 0 2 0 0 0 0 0 0 0 21.2 315550 chr19 11227606 11227606 G T rs544456198 LDLR Nonsynonymous SNV G425C 0.003 0 0 0 3 0 0 0 0 0 0 0 23.8 315551 chr8 144802404 144802404 - GG MAPK15 Frameshift insertion L243Gfs*52 0 0 0.003 0 0 0 0 1 0 0 0 0 315552 chr8 144802406 144802406 - CA MAPK15 Frameshift insertion A244Rfs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 315553 chr8 144810473 144810473 C A FAM83H Synonymous SNV P386P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.749 315554 chr8 144890791 144890791 C T rs145142316 SCRIB Synonymous SNV A701A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 315555 chr4 140599756 140599756 G C rs764475226 MGST2 Nonsynonymous SNV V40L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 315556 chr8 144992782 144992782 G A rs77146441 PLEC Nonsynonymous SNV P3722L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 315557 chr18 10789214 10789214 G A rs999773875 PIEZO2 Synonymous SNV L678L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.335 315558 chr8 145140901 145140901 T G GPAA1 Nonsynonymous SNV L580R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 315559 chr4 153691795 153691795 A G TIGD4 Nonsynonymous SNV L121P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 315560 chr19 13255472 13255472 - G rs745822294 STX10 Frameshift insertion F149Lfs*28 0.003 0 0 0 3 0 0 0 0 0 0 0 315561 chr18 19762989 19762989 A G rs117646477 GATA6 Synonymous SNV Q535Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 11.72 315562 chr15 74220288 74220288 G T rs117492789 LOXL1-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 7.31 315563 chr19 15367976 15367976 G A rs201699426 BRD4 Synonymous SNV F450F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.15 315564 chr18 30803145 30803145 T G rs370621791 CCDC178 Nonsynonymous SNV R619S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.79 315565 chr15 78466838 78466838 A G ACSBG1 Synonymous SNV N573N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.953 315566 chr11 55322508 55322508 C T rs778513931 OR4C15 Synonymous SNV C188C 0 0 0 1 0 0 0.003 0 0 0 0 0 6.239 315567 chr18 34846545 34846545 G A rs145333419 CELF4 Synonymous SNV A371A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.76 315568 chr8 22458520 22458520 G A C8orf58 Nonsynonymous SNV G56S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 315569 chr6 43021464 43021464 G A CUL7 Nonsynonymous SNV P45S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 315570 chr19 17653073 17653073 C T rs756733224 NIBAN3 Synonymous SNV L190L 0.003 0 0 0 3 0 0 0 0 0 0 0 9.579 315571 chr18 47753884 47753884 C T rs754896236 CFAP53 Nonsynonymous SNV R471Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 315572 chr8 24810360 24810360 C T rs769793484 NEFL Nonsynonymous SNV G532D 0 0 0.007 0 0 0 0 2 0 0 0 0 14.08 315573 chr19 18234912 18234912 G C rs377366405 MAST3 Nonsynonymous SNV R237P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 315574 chr8 25364864 25364864 G A rs369021817 CDCA2 Synonymous SNV T879T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.102 315575 chr8 27516747 27516747 G A SCARA3 Nonsynonymous SNV E354K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 315576 chr8 27678106 27678106 G A rs370697278 PBK Synonymous SNV L191L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 315577 chr6 47763053 47763053 T A OPN5 Synonymous SNV G170G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.19 315578 chr5 1414876 1414876 G A rs28363072 SLC6A3 Synonymous SNV F362F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.01 315579 chr7 134871058 134871058 C T WDR91 Nonsynonymous SNV D723N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 315580 chr8 41575134 41575134 G A rs377436685 ANK1 Synonymous SNV N431N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.42 315581 chr6 56338760 56338760 T C DST Nonsynonymous SNV D4679G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 315582 chr7 139827246 139827246 T C rs772413983 KDM7A Nonsynonymous SNV T233A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 315583 chr8 65493941 65493941 G A BHLHE22 Synonymous SNV G198G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.484 315584 chr5 31538550 31538550 G A rs781739068 C5orf22 Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.665 315585 chr7 148767979 148767979 G A ZNF786 Nonsynonymous SNV R629C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.548 315586 chr7 148876098 148876098 C T ZNF398 Synonymous SNV H378H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.492 315587 chr8 77879038 77879039 AT - rs537980849 MIR3149 0 0 0.007 0 0 0 0 2 0 0 0 0 315588 chr5 35955777 35955777 A T UGT3A1 Nonsynonymous SNV L422H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 315589 chr19 36530456 36530456 G A THAP8 Synonymous SNV L147L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.708 315590 chr8 87540903 87540903 G A rs760779879 CPNE3 Nonsynonymous SNV E44K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315591 chr8 93026963 93026963 A G rs775861396 RUNX1T1 Synonymous SNV S67S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.885 315592 chr16 11017094 11017094 G C rs776446459 CIITA Synonymous SNV T525T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.17 315593 chr9 107456915 107456915 C G rs78847186 OR13D1 Synonymous SNV L71L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.461 315594 chr19 38993335 38993335 C T rs763908615 RYR1 Synonymous SNV D2601D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 315595 chr16 16225727 16225727 C T rs201533167 ABCC1 Nonsynonymous SNV R1301C 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 315596 chr9 116060346 116060346 C T rs190256396 RNF183 Nonsynonymous SNV C40Y 0 0 0.007 0 0 0 0 2 0 0 0 0 28.1 315597 chr16 1842329 1842329 G A rs754396976 IGFALS Synonymous SNV P68P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 8.667 315598 chr9 117840452 117840452 G C rs766639381 TNC Nonsynonymous SNV T815R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 315599 chr19 44006388 44006388 G A PHLDB3 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.688 315600 chr9 124094725 124094725 C T rs758909359 GSN Synonymous SNV I731I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 315601 chr8 30585086 30585086 C T rs761242551 GSR Synonymous SNV R89R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 315602 chr9 132566519 132566519 G T rs752628543 TOR1B Nonsynonymous SNV A123S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 315603 chr8 38001825 38001825 A G rs762245736 STAR Nonsynonymous SNV L275P 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 25.7 315604 chr19 46216472 46216472 G A rs370353061 FBXO46 Synonymous SNV P94P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.628 315605 chr8 43147734 43147734 G - POTEA G37Efs*78 0.001 0 0 0 1 0 0 0 0 0 0 0 315606 chr5 118454599 118454599 T C rs200933738 DMXL1 Nonsynonymous SNV L278P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 315607 chr19 47763915 47763915 G A rs763256073 CCDC9 Nonsynonymous SNV R94Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 315608 chr8 55541537 55541537 G C RP1 Nonsynonymous SNV E1699Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.339 315609 chr9 134431494 134431494 C T rs974199338 PRRT1B Nonsynonymous SNV T184M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.235 315610 chr9 134501740 134501740 G A rs369751075 RAPGEF1 Nonsynonymous SNV T424M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 315611 chr19 48382381 48382381 T C rs764839731 SULT2A1 Nonsynonymous SNV Y160C 0.002 0 0 0 2 0 0 0 0 0 0 0 18.86 315612 chr9 136305609 136305609 G A rs782184721 ADAMTS13 Nonsynonymous SNV R644H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 315613 chr19 48869139 48869139 G A rs201450222 SYNGR4 Nonsynonymous SNV E14K 0.002 0 0 0 2 0 0 0 0 0 0 0 21.8 315614 chr19 48947132 48947132 G A rs191119443 GRIN2D Nonsynonymous SNV G1317S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.38 315615 chr11 63532663 63532663 G A rs567970350 C11orf95 Nonsynonymous SNV A234V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.13 315616 chr8 86389502 86389502 C G CA2 Nonsynonymous SNV Q120E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 315617 chr9 139118682 139118682 T C rs748616900 QSOX2 Nonsynonymous SNV M123V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.729 315618 chr19 49949874 49949874 T C rs138652580 PIH1D1 Synonymous SNV L255L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.901 315619 chr19 50312679 50312679 T C rs746486620 FUZ Nonsynonymous SNV T180A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.88 315620 chr19 50366979 50366979 C T rs145307985 PNKP Synonymous SNV P261P 0.003 0 0 0 3 0 0 0 0 0 0 0 Benign/Likely benign 12.11 315621 chr9 140000755 140000755 A G rs138658585 MAN1B1 Nonsynonymous SNV K478R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 21.1 315622 chr9 140395265 140395265 G C rs376052223 PNPLA7 Nonsynonymous SNV F520L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 315623 chr9 141012478 141012478 C T rs199770929 CACNA1B Nonsynonymous SNV P1953L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 315624 chr7 2552881 2552881 - GATGGATGGATGGATGGATGGATG LFNG D55_E56insGWMDGWMD 0.001 0 0 0 1 0 0 0 0 0 0 0 315625 chr7 2949770 2949770 G A rs369919588 CARD11 Synonymous SNV I1058I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.804 315626 chr5 140788280 140788280 A G PCDHGB6 Nonsynonymous SNV K171E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.647 315627 chr9 27524354 27524354 T C rs201598978 IFNK Nonsynonymous SNV M7T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 315628 chr7 5540604 5540604 G A rs771958263 FBXL18 Synonymous SNV A432A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.066 315629 chr7 6213334 6213334 G A rs763254758 CYTH3 Synonymous SNV A133A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 315630 chr19 52852469 52852469 C - ZNF610 Stop gain S15* 0.002 0 0 0 2 0 0 0 0 0 0 0 315631 chr19 52852471 52852471 G T ZNF610 Nonsynonymous SNV G16W 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 315632 chr9 35869498 35869498 C T rs146834712 OR13J1 Nonsynonymous SNV A301T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 315633 chr19 36218376 36218376 G A rs769290434 KMT2B Synonymous SNV S1385S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 315634 chr11 66975001 66975001 G A KDM2A Nonsynonymous SNV V110I 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 315635 chr19 53344091 53344091 G A rs200059189 ZNF468 Nonsynonymous SNV R486C 0.002 0 0 0 2 0 0 0 0 0 0 0 21 315636 chr9 6606627 6606627 G A rs12006003 GLDC Synonymous SNV H226H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 9.884 315637 chr9 6606639 6606639 A G rs12004164 GLDC Synonymous SNV D222D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 6.851 315638 chr7 20825140 20825175 GCCGCGGCAGCCGCGGCTGCTGCCGCGGCCGCCGCA - rs763686025 SP8 A88_A99del 0.001 0 0 0 1 0 0 0 0 0 0 0 315639 chr19 54395887 54395887 G T rs375466358 PRKCG Nonsynonymous SNV V271L 0.002 0 0 0 2 0 0 0 0 0 0 0 21 315640 chr9 77397689 77397689 C T rs200855300 TRPM6 Synonymous SNV S995S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 315641 chr9 78796394 78796394 C T PCSK5 Nonsynonymous SNV S695F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315642 chr9 78907151 78907151 G T rs118069479 PCSK5 Nonsynonymous SNV D1049Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 315643 chr8 144942300 144942300 C T rs191533123 EPPK1 Nonsynonymous SNV G1708S 0.002 0 0 0 2 0 0 0 0 0 0 0 28 315644 chr19 54721037 54721037 T A LILRB3 Synonymous SNV A608A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.726 315645 chr19 55823280 55823280 C T rs763758750 BRSK1 Synonymous SNV D727D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.233 315646 chrUn_gl000220 118542 118545 GTGT - RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 315647 chr19 5587939 5587939 G A rs376399865 SAFB2 Nonsynonymous SNV R860C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 315648 chrX 101826528 101826528 G A rs145643857 NXF4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.61 315649 chrX 118222366 118222366 C T KIAA1210 Nonsynonymous SNV E943K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 315650 chrX 115572256 115572256 T C rs782638440 SLC6A14 Synonymous SNV L113L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.61 315651 chrX 135067874 135067874 C T rs781963863 SLC9A6 Synonymous SNV S71S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.97 315652 chrX 135404948 135404948 C A rs186214790 ADGRG4 Nonsynonymous SNV L28I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 315653 chr19 57646767 57646767 C T rs150335433 ZIM3 Nonsynonymous SNV G313E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 315654 chrX 13636062 13636062 G A EGFL6 Nonsynonymous SNV G331D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 315655 chrX 135487947 135487947 T G rs187258381 ADGRG4 Synonymous SNV L2917L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.174 315656 chr9 27017017 27017017 C T rs78753648 IFT74 Nonsynonymous SNV P301L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 315657 chr19 58187761 58187761 T C rs1021997668 ZSCAN4 Nonsynonymous SNV I83T 0.003 0 0 0 3 0 0 0 0 0 0 0 25.4 315658 chr9 35398633 35398633 G A rs139577182 UNC13B Nonsynonymous SNV G853E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 315659 chr19 58945521 58945521 C T rs140370905 ZNF132 Synonymous SNV P430P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 315660 chrX 16857989 16857989 C T rs200810818 TXLNG Nonsynonymous SNV R268C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315661 chrX 18959662 18959662 A T rs61733284 PHKA2 Synonymous SNV I283I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.23 315662 chrX 19032107 19032107 G A rs61742971 ADGRG2 Nonsynonymous SNV R228W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 315663 chrX 24830879 24830879 T C rs1016508756 POLA1 Synonymous SNV V1065V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.176 315664 chrX 47270086 47270086 C T rs150123180 ZNF157 Synonymous SNV C69C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 315665 chrX 47519504 47519504 - CCTTCCTTCCTTCCTT UXT-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 315666 chr19 45818800 45818800 C T rs370269966 CKM Nonsynonymous SNV R135H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 315667 chrX 48925037 48925037 C A rs201466297 CCDC120 Nonsynonymous SNV P463T 0 0 0.003 0 0 0 0 1 0 0 0 0 25 315668 chr19 46273796 46273796 C A DMPK Nonsynonymous SNV G624C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 315669 chr19 46318957 46318957 T C SYMPK 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 315670 chr9 94486052 94486052 G A rs374824850 ROR2 Synonymous SNV T908T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.749 315671 chrX 54841965 54841970 CAGTGC - rs777217330 MAGED2 A563_S564del 0 0 0.003 0 0 0 0 1 0 0 0 0 315672 chrX 55035752 55035752 G A rs780775232 ALAS2 Nonsynonymous SNV A505V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 315673 chr6 24836007 24836007 A G RIPOR2 Nonsynonymous SNV L711P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 315674 chrX 69424319 69424319 G A rs777214999 DGAT2L6 Nonsynonymous SNV R271H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 315675 chrX 69503875 69503875 C T rs143638768 RAB41 Synonymous SNV T176T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.422 315676 chr9 97522404 97522404 T C rs750167553 AOPEP Synonymous SNV D113D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.058 315677 chr7 96635362 96635362 G C rs779138686 DLX6 Nonsynonymous SNV G25R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 315678 chr9 100204127 100204127 A G rs146605951 TDRD7 Synonymous SNV Q201Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.833 315679 chr17 1383899 1383899 G A rs569122991 MYO1C Synonymous SNV S276S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.678 315680 chr10 101295049 101295049 G T rs770192462 NKX2-3 Synonymous SNV P222P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 315681 chr19 48806315 48806315 G A rs760712197 CCDC114 Synonymous SNV N305N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 315682 chr9 107457619 107457619 T C rs775483628 OR13D1 Nonsynonymous SNV I306T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 19.14 315683 chr9 108424997 108424997 A G rs756565513 TAL2 Nonsynonymous SNV I74V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.418 315684 chr10 104173533 104173533 G A rs144187898 PSD Nonsynonymous SNV L516F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 315685 chr10 105254199 105254199 G T rs751258966 NEURL1 Nonsynonymous SNV A19S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.55 315686 chr9 113637742 113637742 T A rs147557148 LPAR1 Nonsynonymous SNV I352F 0.001 0 0 0 1 0 0 0 0 0 0 0 24 315687 chr9 114296586 114296586 T G rs753640120 ZNF483 Nonsynonymous SNV V225G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 315688 chr10 108412249 108412249 G T rs61734226 SORCS1 Nonsynonymous SNV P789Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.09 315689 chr9 117026648 117026648 C T rs201234688 COL27A1 Nonsynonymous SNV P1070L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 315690 chr17 19700931 19700931 G T rs778834648 ULK2 Synonymous SNV A529A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 315691 chr12 11214738 11214738 T C rs544516029 TAS2R46 Synonymous SNV A52A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.035 315692 chr9 119738454 119738454 T A rs200986783 ASTN2 Nonsynonymous SNV T513S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 315693 chr6 41889335 41889335 G T BYSL Nonsynonymous SNV G12V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.037 315694 chr10 119134625 119134625 G T rs775842121 PDZD8 Synonymous SNV A38A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.178 315695 chr10 123844360 123844360 C A TACC2 Nonsynonymous SNV P782H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.04 315696 chr1 109816091 109816091 G T rs200881205 CELSR2 Nonsynonymous SNV S2848I 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 315697 chr1 11024265 11024265 C A C1orf127 Nonsynonymous SNV D7Y 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 315698 chr10 124648070 124648070 A G rs144514694 LOC399815 0 0 0.003 0 0 0 0 1 0 0 0 0 7.714 315699 chr17 26694758 26694758 C G rs782144633 VTN Nonsynonymous SNV Q434H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 28.7 315700 chr10 126716024 126716024 C T rs771000421 CTBP2 Nonsynonymous SNV R102H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315701 chr10 128830583 128830583 C T rs756189931 DOCK1 Synonymous SNV N637N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.413 315702 chr10 14816280 14816280 G A rs776715291 FAM107B Nonsynonymous SNV P128L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 315703 chr6 70991154 70991154 C T rs765530230 COL9A1 Nonsynonymous SNV G29D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 315704 chr10 15098972 15098972 - T OLAH Frameshift insertion M108Yfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 315705 chr10 18795454 18795454 A G CACNB2 Synonymous SNV R161R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.461 315706 chr1 120468324 120468324 C T rs587610159 NOTCH2 Nonsynonymous SNV R1372Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 315707 chr10 19498389 19498389 A G MALRD1 Nonsynonymous SNV D924G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 315708 chr1 12726618 12726618 C T rs200338663 AADACL4 Nonsynonymous SNV R366C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 315709 chr10 22826190 22826190 G A rs376129271 PIP4K2A Synonymous SNV T328T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.73 315710 chr10 25885645 25885645 G A rs140090961 GPR158 Nonsynonymous SNV R691Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 315711 chr1 144931423 144931423 T C rs782794303 PDE4DIP Nonsynonymous SNV M96V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 315712 chr1 147096117 147096117 C T rs374426466 BCL9 Nonsynonymous SNV S1213L 0.003 0 0 0 3 0 0 0 0 0 0 0 32 315713 chr19 55558764 55558764 T G RDH13 Nonsynonymous SNV T251P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 315714 chr1 154461821 154461821 G A rs781262596 SHE Nonsynonymous SNV R244W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 315715 chr10 5139642 5139642 A G rs200981816 AKR1C3 Nonsynonymous SNV H90R 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 315716 chr10 48390299 48390299 G A rs140931492 RBP3 Synonymous SNV I193I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.514 315717 chr1 155727020 155727020 C T rs756673969 GON4L Nonsynonymous SNV R1783Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 315718 chr10 50186385 50186385 T C rs61733237 WDFY4 Nonsynonymous SNV V3108A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.07 315719 chr10 50887803 50887803 G A rs149069015 C10orf53 Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.21 315720 chr10 5497032 5497032 C A NET1 Nonsynonymous SNV A329E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 315721 chr10 62634745 62634745 G A rs193102817 RHOBTB1 Synonymous SNV D474D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 315722 chr1 157803021 157803021 C T rs764040217 CD5L Nonsynonymous SNV D334N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 315723 chr17 41008372 41008372 C T rs373171390 AOC3 Synonymous SNV N156N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 315724 chr6 133015247 133015247 A G rs201819180 VNN1 Nonsynonymous SNV I139T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 315725 chr10 72294183 72294183 C T rs146549491 PALD1 Nonsynonymous SNV A342V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 315726 chr6 136732784 136732784 C T rs750112400 MAP7 Nonsynonymous SNV R95Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 315727 chr10 73569638 73569638 C T rs755305739 CDH23 Synonymous SNV F688F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 315728 chr1 161069587 161069587 G C rs139418163 KLHDC9 0.002 0 0.003 0 2 0 0 1 0 0 0 0 24.6 315729 chr10 77160901 77160901 G A rs760684963 ZNF503 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 315730 chr19 6427434 6427434 G A rs552989074 SLC25A41 Stop gain R235X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 315731 chr10 43600607 43600607 C A rs35118262 RET Nonsynonymous SNV T24N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.9 315732 chr19 6586226 6586226 G A rs745377808 CD70 Synonymous SNV A129A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.824 315733 chr10 90774203 90774203 T C rs952783804 FAS Nonsynonymous SNV V314A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.163 315734 chr10 93719797 93719797 C T rs148171563 BTAF1 Synonymous SNV N383N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 315735 chr10 96534953 96534953 G T CYP2C19 Nonsynonymous SNV A103S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 315736 chr1 170135763 170135763 T C METTL11B Nonsynonymous SNV F151L 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 315737 chr6 158449795 158449795 G A rs61744324 SYNJ2 Synonymous SNV T74T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.158 315738 chr6 159646577 159646577 G A rs186515442 FNDC1 Nonsynonymous SNV V299M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 315739 chr8 17065501 17065501 T C rs772644538 ZDHHC2 Synonymous SNV H165H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.405 315740 chr1 181058493 181058493 C T IER5 Nonsynonymous SNV A152V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 315741 chr11 1018517 1018517 A G rs200208255 MUC6 Synonymous SNV H1428H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 315742 chr8 22442671 22442671 C T rs201708972 PDLIM2 Nonsynonymous SNV R153C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 315743 chr1 186278962 186278962 A T rs146078887 PRG4 Synonymous SNV G1019G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 3.299 315744 chr11 103908356 103908356 G A rs761129966 DDI1 Nonsynonymous SNV S269N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 315745 chr7 1525087 1525087 A G rs780766216 INTS1 Nonsynonymous SNV S999P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 315746 chr1 19246216 19246216 G A IFFO2 Nonsynonymous SNV R260W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 315747 chr7 2583490 2583490 T C rs941043066 BRAT1 Synonymous SNV G4G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.016 315748 chr8 25890660 25890660 G A EBF2 Synonymous SNV C164C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 315749 chr1 200870222 200870222 G A rs141815054 INAVA Nonsynonymous SNV R152H 0.002 0 0 0 2 0 0 0 0 0 0 0 16.57 315750 chr17 66270080 66270080 C T rs782397998 SLC16A6 Nonsynonymous SNV G122S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.3 315751 chr11 11642919 11642919 C T rs565696315 GALNT18 Synonymous SNV K74K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 315752 chr1 201618147 201618147 G A rs760971388 NAV1 Synonymous SNV K117K 0.002 0 0 0 2 0 0 0 0 0 0 0 10.54 315753 chr11 118071252 118071252 C G rs376277294 JAML Nonsynonymous SNV C244S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 315754 chr11 118890931 118890931 C T rs781829766 TRAPPC4 Nonsynonymous SNV T141I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 315755 chr11 119168156 119168156 C T rs2227986 CBL Nonsynonymous SNV S739F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.1 315756 chr11 123755310 123755310 G A rs773180306 TMEM225 Nonsynonymous SNV S72L 0 0 0.007 0 0 0 0 2 0 0 0 0 9.308 315757 chr1 11076974 11076974 C T rs774307145 TARDBP Synonymous SNV S104S 0.001 0 0 0 1 0 0 0 0 0 0 0 19 315758 chr17 72832152 72832152 G A rs778424748 TMEM104 Nonsynonymous SNV V273I 0 0.003 0 0 0 1 0 0 0 0 0 0 2.868 315759 chr1 214558112 214558112 A G rs751185154 PTPN14 Synonymous SNV N362N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.079 315760 chr1 214802406 214802406 A G rs751941434 CENPF Synonymous SNV Q362Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.446 315761 chr10 128192614 128192614 T C rs746709237 C10orf90 Synonymous SNV K385K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 315762 chr7 42005057 42005057 A G GLI3 Nonsynonymous SNV L1205S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.974 315763 chr11 17096223 17096223 A G rs750971362 SNORD14A 0 0 0.01 0 0 0 0 3 0 0 0 0 16.3 315764 chr1 225594450 225594450 T A rs201212744 LBR Nonsynonymous SNV I467F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.43 315765 chr7 44153617 44153619 GGA - AEBP1 E1080del 0.001 0 0 0 1 0 0 0 0 0 0 0 315766 chr11 17531058 17531058 G A rs143160805 USH1C Nonsynonymous SNV R620C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.3 315767 chr1 227171914 227171914 T C COQ8A Nonsynonymous SNV L459P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 315768 chr11 17741612 17741612 C T MYOD1 Synonymous SNV L95L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 315769 chr11 18636517 18636517 G C rs115073666 SPTY2D1 Nonsynonymous SNV P435R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.074 315770 chr1 229606529 229606529 C T rs780956163 NUP133 Nonsynonymous SNV G625D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.577 315771 chr8 134034245 134034245 G A rs80285078 TG Nonsynonymous SNV A2296T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.01 315772 chr1 233091320 233091320 T C NTPCR Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.55 315773 chr11 799543 799543 G A rs746570032 PIDD1 Nonsynonymous SNV R833C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 315774 chr1 234744989 234744989 C T IRF2BP2 Synonymous SNV P84P 0.003 0 0 0 4 0 0 0 1 0 0 0 7.674 315775 chr12 9227210 9227210 G A rs200986115 A2M Synonymous SNV I1084I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.78 315776 chr11 31822341 31822341 C T rs777250095 PAX6 Nonsynonymous SNV G5S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 315777 chr17 78172447 78172447 G A rs201797957 CARD14 Synonymous SNV A399A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.177 315778 chr11 35747678 35747678 T C TRIM44 Synonymous SNV D318D 0 0 0.007 0 0 0 0 2 0 0 0 0 4.384 315779 chr11 3838719 3838719 G T rs202124578 PGAP2 Nonsynonymous SNV W101L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 315780 chr1 237778008 237778008 G A RYR2 Synonymous SNV E1860E 0.003 0 0 0 3 0 0 0 0 0 0 0 0.458 315781 chr1 241729855 241729855 A G rs142291823 KMO Nonsynonymous SNV N251S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 315782 chr11 46393138 46393138 C T rs542722854 DGKZ Synonymous SNV R225R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 315783 chr1 155452063 155452063 G C ASH1L Nonsynonymous SNV R200G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 315784 chr7 91779849 91779849 A G LRRD1 Synonymous SNV D759D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.059 315785 chr1 24768673 24768673 G A rs752148992 NIPAL3 Synonymous SNV A96A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.901 315786 chr1 156704216 156704216 G A rs763083277 RRNAD1 Nonsynonymous SNV R351Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 315787 chr1 15692403 15692403 C A rs373444389 FHAD1 Nonsynonymous SNV A1021D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 315788 chr1 26670385 26670385 - G CRYBG2 Frameshift insertion T922Hfs*33 0.002 0 0 0 2 0 0 0 0 0 0 0 315789 chr1 27876320 27876320 G A rs146409784 AHDC1 Synonymous SNV A769A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.615 315790 chr11 55340454 55340454 T C OR4C16 Nonsynonymous SNV I284T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.3 315791 chr13 32907407 32907407 A G rs28897710 BRCA2 Nonsynonymous SNV T598A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 1.104 315792 chr13 32932027 32932027 C A rs80359005 BRCA2 Nonsynonymous SNV P2589H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 34 315793 chr1 165619182 165619182 G A MGST3 Nonsynonymous SNV R33H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 315794 chr1 40038282 40038282 A G rs762708463 PABPC4-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 14.76 315795 chr1 41483261 41483267 GATGACA - rs746537061 SLFNL1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 315796 chr1 41948230 41948230 G A rs746888124 EDN2 Nonsynonymous SNV P84L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 315797 chr1 41483875 41483875 G A SLFNL1-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 2.488 315798 chr18 44057627 44057627 C T rs764553662 LOXHD1 Synonymous SNV T449T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.46 315799 chr7 102112946 102112946 G A LRWD1 Nonsynonymous SNV R375K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 315800 chr1 43021868 43021868 A T rs141156656 CCDC30 Nonsynonymous SNV E156V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 315801 chr11 58979248 58979248 G A rs374773074 MPEG1 Nonsynonymous SNV T364M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 315802 chr1 44605916 44605916 G A rs990976352 KLF18 Nonsynonymous SNV T463M 0.002 0 0 0 2 0 0 0 0 0 0 0 0.68 315803 chr1 44606399 44606399 G T KLF18 Nonsynonymous SNV T302N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.663 315804 chr7 116593685 116593685 G A rs747033623 ST7 Nonsynonymous SNV V31M 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 315805 chr1 46739872 46739872 G A rs375284116 RAD54L Nonsynonymous SNV R378H 0.002 0 0 0 2 0 0 0 0 0 0 0 27 315806 chr13 96277069 96277069 T C rs370736721 DZIP1 Nonsynonymous SNV M309V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.737 315807 chr1 47882281 47882281 C T FOXE3 Synonymous SNV Y98Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.366 315808 chr1 48764525 48764525 C T rs147329302 SPATA6 Nonsynonymous SNV G429S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 315809 chr7 128394659 128394659 G T rs371458036 CALU Nonsynonymous SNV A100S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.99 315810 chr11 62299462 62299462 A G rs201133212 AHNAK Synonymous SNV P809P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.138 315811 chr1 55277735 55277735 C G LEXM Nonsynonymous SNV P212R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 315812 chr1 6170529 6170529 G A rs201137480 CHD5 Synonymous SNV N1769N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.53 315813 chr11 63276276 63276276 G A LGALS12 Nonsynonymous SNV C23Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 315814 chr7 138265361 138265361 T C rs751082860 TRIM24 Synonymous SNV Y846Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.85 315815 chr11 18110938 18110938 A G SAAL1 Nonsynonymous SNV S237P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 315816 chr7 140035136 140035136 C T rs779156476 SLC37A3 Nonsynonymous SNV G332D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.8 315817 chr11 64761963 64761963 C T rs757662221 BATF2 Nonsynonymous SNV R33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 315818 chr18 72999734 72999734 C G rs141280995 TSHZ1 Nonsynonymous SNV P791R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.22 315819 chr11 6555363 6555363 C T rs555478816 DNHD1 Synonymous SNV S986S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 315820 chr7 143097058 143097058 C - EPHA1 G174Afs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 315821 chr11 66571553 66571553 C T rs371690336 C11orf80 Synonymous SNV D145D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 315822 chr11 72114068 72114068 C G CLPB Nonsynonymous SNV A162P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 315823 chr11 74204428 74204428 A C rs1018035663 LIPT2 Synonymous SNV R107R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.265 315824 chr1 205589081 205589081 G C rs538908824 ELK4 Nonsynonymous SNV L365V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.318 315825 chr11 75851985 75851985 A G rs148697568 UVRAG Nonsynonymous SNV K543R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.942 315826 chr1 94471106 94471106 T C rs774582273 ABCA4 Nonsynonymous SNV N2013S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 315827 chr1 208061171 208061171 C T rs367900443 CD34 Nonsynonymous SNV R357Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 315828 chr19 14003622 14003622 G A rs146539987 C19orf57 Nonsynonymous SNV R6C 0 0.003 0 0 0 1 0 0 0 0 0 0 12.06 315829 chr19 1466167 1466167 A C APC2 Nonsynonymous SNV D955A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.305 315830 chr9 128064268 128064268 A C rs757521429 GAPVD1 Nonsynonymous SNV E64D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.042 315831 chr11 89896575 89896575 T C rs372148312 NAALAD2 Synonymous SNV S358S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.172 315832 chr20 18794658 18794658 A G SCP2D1 Nonsynonymous SNV N67D 0.002 0 0 0 2 0 0 0 0 0 0 0 25.5 315833 chr11 93913161 93913161 C T PANX1 Synonymous SNV P313P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.159 315834 chr1 220809308 220809308 C T rs1055504160 MARK1 Synonymous SNV S448S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 315835 chr14 50914195 50914195 A G rs750916006 MAP4K5 Nonsynonymous SNV L360S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 315836 chr20 35929808 35929808 C G rs746257147 MANBAL Nonsynonymous SNV H48D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.808 315837 chr12 109717569 109717569 C T rs377133210 FOXN4 Synonymous SNV A487A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 315838 chr12 111089101 111089101 G A rs994810445 HVCN1 Synonymous SNV L168L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.979 315839 chr19 17571448 17571448 G A rs779258494 NXNL1 Synonymous SNV Y77Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.797 315840 chr12 113384659 113384659 G A rs540679155 OAS3 Nonsynonymous SNV E250K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.6 315841 chr12 113384741 113384741 A G rs183804250 OAS3 Nonsynonymous SNV D277G 0 0 0.007 0 0 0 0 2 0 0 0 0 24 315842 chr12 113388618 113388618 G A rs199505039 OAS3 Nonsynonymous SNV E499K 0 0 0.007 0 0 0 0 2 0 0 0 0 18.4 315843 chr20 43108969 43108969 C T rs749980724 TTPAL Synonymous SNV P110P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.16 315844 chr12 114380173 114380173 G A RBM19 Nonsynonymous SNV R565C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315845 chr14 60921836 60921836 T G rs139054454 C14orf39 Nonsynonymous SNV E462D 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.9 315846 chr11 62291964 62291964 C T AHNAK Nonsynonymous SNV G3309R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 315847 chr12 12043975 12043975 T A rs765563314 ETV6 Nonsynonymous SNV C452S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 315848 chr12 121880817 121880817 T G rs782814474 KDM2B Nonsynonymous SNV E792A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 315849 chr12 123345895 123345895 G A HIP1R Nonsynonymous SNV R998H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315850 chr12 123746310 123746310 T C CDK2AP1 Synonymous SNV A79A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.963 315851 chr20 54987548 54987548 A C CASS4 Nonsynonymous SNV K12Q 0.003 0 0 0 3 0 0 0 0 0 0 0 1.067 315852 chr8 56863277 56863277 A C LYN Synonymous SNV R120R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.322 315853 chr12 124274523 124274523 C T rs778967410 DNAH10 Nonsynonymous SNV T496M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315854 chr14 72055745 72055745 A T rs147454458 SIPA1L1 Nonsynonymous SNV M386L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 2.798 315855 chr12 13153523 13153523 A G rs2232242 HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.205 315856 chr12 132199423 132199423 G A rs139429077 SFSWAP Nonsynonymous SNV V149M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 315857 chr12 132512654 132512654 C G EP400 Nonsynonymous SNV D1734E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 315858 chr12 133240613 133240613 C T rs201115064 POLE Nonsynonymous SNV A895T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 35 315859 chr10 3208431 3208431 G A rs372307255 PITRM1 Synonymous SNV N104N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.84 315860 chr11 70034018 70034018 G A rs375579993 ANO1 Nonsynonymous SNV E957K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 315861 chr20 62191906 62191906 C T rs755263714 HELZ2 Nonsynonymous SNV E1907K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 315862 chr12 21229485 21229485 A G rs199611400 SLCO1B3-SLCO1B7, SLCO1B7 Nonsynonymous SNV Y569C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 315863 chr12 22624928 22624928 A G rs375572303 C2CD5 Synonymous SNV F747F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 315864 chr12 32134105 32134105 A G rs200670047 RESF1 Synonymous SNV Q72Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 315865 chr12 2964449 2964449 T G TEX52 Nonsynonymous SNV Q79P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.492 315866 chr12 46320110 46320110 C T rs752289656 SCAF11 Nonsynonymous SNV R1125Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.982 315867 chr12 51751913 51751913 C T rs770218207 GALNT6 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 315868 chr12 49392079 49392079 C G rs1017816540 DDN Nonsynonymous SNV G194R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 315869 chr12 53086269 53086269 C A rs768894015 KRT77 Nonsynonymous SNV V455F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 315870 chr12 55420383 55420383 A G rs759528480 NEUROD4 Nonsynonymous SNV I54V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.657 315871 chr12 53165946 53165946 C G rs377337199 KRT76 Nonsynonymous SNV V357L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 315872 chr12 57348757 57348757 C T rs200178029 RDH16 Nonsynonymous SNV V169M 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 315873 chr12 57424086 57424086 C A rs727504563 MYO1A Synonymous SNV R833R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.83 315874 chr12 58125176 58125176 G T AGAP2 Synonymous SNV G706G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.503 315875 chr12 6753345 6753345 A G rs760567001 ACRBP Nonsynonymous SNV I301T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.073 315876 chr12 95602714 95602714 G A rs75727483 FGD6 Synonymous SNV S782S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.598 315877 chr12 95604928 95604928 C T rs114682041 FGD6 Synonymous SNV S44S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.09 315878 chr13 103527798 103527798 G A rs144208043 BIVM-ERCC5, ERCC5 Nonsynonymous SNV A1036T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 315879 chr13 27250696 27250696 G A WASF3 Nonsynonymous SNV R184H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 315880 chr13 33634857 33634857 C T KL Synonymous SNV Y547Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.763 315881 chr13 42874474 42874474 G A AKAP11 Nonsynonymous SNV G531E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.796 315882 chr13 38229420 38229420 C A rs775051137 TRPC4 Synonymous SNV T390T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 315883 chr13 39621897 39621897 T C rs200432148 NHLRC3 Nonsynonymous SNV I226T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 315884 chr14 100615691 100615691 G T rs149922542 DEGS2 Nonsynonymous SNV R147S 0 0.003 0.003 1 0 1 0.003 1 0 0 0 0 8.632 315885 chr14 103389031 103389031 C T rs745417738 AMN Synonymous SNV G2G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 315886 chr14 103566644 103566644 C T rs143489829 EXOC3L4 Nonsynonymous SNV R30W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 315887 chr14 103566925 103566925 G A rs554477485 EXOC3L4 Synonymous SNV A123A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.3 315888 chr14 20482992 20482992 A C rs779763415 OR4K14 Nonsynonymous SNV Y121D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 315889 chr14 105268135 105268135 G A rs770785649 ZBTB42 Nonsynonymous SNV V201I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.639 315890 chr14 20897112 20897112 G T rs201783825 KLHL33 Nonsynonymous SNV L500M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 315891 chr14 21215746 21215746 T A rs140958213 EDDM3A Nonsynonymous SNV S3T 0 0 0.003 0 0 0 0 1 0 0 0 0 16 315892 chr14 23313582 23313582 G A rs147241325 MMP14 Synonymous SNV E338E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.87 315893 chr14 23868076 23868076 G A rs756971568 MYH6 Synonymous SNV A584A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.604 315894 chr14 23771776 23771776 C T PPP1R3E Nonsynonymous SNV E4K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 315895 chr14 24731273 24731273 C T rs547714904 TGM1 Nonsynonymous SNV G96S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 315896 chr14 24724343 24724343 C T rs146728175 TGM1 Nonsynonymous SNV A588T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.85 315897 chr14 31355359 31355359 A G rs748019236 COCH Nonsynonymous SNV M440V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 315898 chr14 34904441 34904441 A G SPTSSA Nonsynonymous SNV M61T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 315899 chr14 60591617 60591617 G A rs754483721 PCNX4 Nonsynonymous SNV V676I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.37 315900 chr14 57949844 57949844 C T rs759085921 CCDC198 Nonsynonymous SNV R111Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.94 315901 chr14 58332281 58332281 T G rs116936557 SLC35F4 Nonsynonymous SNV K31T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.82 315902 chr14 70418887 70418887 C A rs754093401 SMOC1 Nonsynonymous SNV N44K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 315903 chr14 68045912 68045912 G A rs201225859 PLEKHH1 Nonsynonymous SNV G971R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315904 chr14 75277070 75277070 T G YLPM1 Synonymous SNV V1725V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.397 315905 chr14 76088539 76088541 CTC - FLVCR2 L60del 0 0 0.003 0 0 0 0 1 0 0 0 0 315906 chr14 88892910 88892910 A C SPATA7 Nonsynonymous SNV K204T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.99 315907 chr14 92958049 92958049 C T rs758612286 SLC24A4 Synonymous SNV N526N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 315908 chr14 96000304 96000304 C T rs142823049 SNHG10 0 0 0.003 0 0 0 0 1 0 0 0 0 8.977 315909 chr15 24923539 24923539 C T rs374027043 NPAP1 Nonsynonymous SNV S842F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 315910 chr15 34653728 34653728 G A rs971066311 LPCAT4 Nonsynonymous SNV S339F 0 0 0.003 0 0 0 0 1 0 0 0 0 27 315911 chr15 40468866 40468866 C A rs138809057 BUB1B Synonymous SNV S191S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.11 315912 chr15 42373301 42373301 C T PLA2G4D Nonsynonymous SNV G330R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 315913 chr15 59480412 59480412 T C rs777001351 MYO1E Synonymous SNV V603V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.377 315914 chr15 48056069 48056069 G A rs767188226 SEMA6D Nonsynonymous SNV R257H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315915 chr15 48427163 48427163 A C SLC24A5 Nonsynonymous SNV Y191S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 315916 chr15 66844476 66844476 A G rs371752784 LCTL Nonsynonymous SNV M237T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.584 315917 chr15 57809064 57809064 G A rs368037873 CGNL1 Synonymous SNV E830E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 14.03 315918 chr15 69733292 69733292 G A rs991020332 KIF23 Synonymous SNV Q641Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.012 315919 chr15 65261612 65261612 T C SPG21 Nonsynonymous SNV I190V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.427 315920 chr15 72104113 72104113 G T rs1025686445 NR2E3 Nonsynonymous SNV V85L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 315921 chr15 73660564 73660564 C T rs376849038 HCN4 Synonymous SNV P16P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 315922 chr15 75132923 75132923 G C ULK3 Nonsynonymous SNV P177A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 315923 chr15 75648682 75648682 G A MAN2C1 Nonsynonymous SNV S850F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 315924 chr15 81627313 81627313 C T TMC3 Nonsynonymous SNV R736Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 315925 chr15 83502053 83502053 T C WHAMM Nonsynonymous SNV V732A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 315926 chr15 78566564 78566566 GGA - DNAJA4 E149del 0 0 0.003 0 0 0 0 1 0 0 0 0 315927 chr15 85175083 85175083 G C SCAND2P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.469 315928 chr15 83331629 83331629 G A rs772198872 AP3B2 Nonsynonymous SNV R833W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 315929 chr15 90272324 90272324 G A WDR93 Nonsynonymous SNV G375R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 315930 chr16 14041577 14041577 C T rs376391395 ERCC4 Synonymous SNV P708P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 315931 chr16 2086867 2086867 G A rs368358326 SLC9A3R2 Nonsynonymous SNV E134K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.25 315932 chr16 19553266 19553266 T C rs761949461 CCP110 Nonsynonymous SNV S703P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 315933 chr16 2027591 2027591 A G TBL3 Nonsynonymous SNV K607E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 315934 chr16 2139989 2139989 G A rs141412586 PKD1 Synonymous SNV A4216A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.47 315935 chr16 31414946 31414946 C A rs149260534 ITGAD Synonymous SNV A228A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.1 315936 chr16 27224916 27224916 C T rs760276385 KDM8 Nonsynonymous SNV A208V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.37 315937 chr16 29912600 29912600 T G ASPHD1 Nonsynonymous SNV M103R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.383 315938 chr16 4796489 4796489 T C C16orf71 Nonsynonymous SNV L386P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 315939 chr15 43552299 43552299 C G TGM5 Synonymous SNV T129T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.78 315940 chr15 43622047 43622047 A G rs770675990 LCMT2 Nonsynonymous SNV L214P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 315941 chr16 67199852 67199852 C A rs768911619 HSF4 Nonsynonymous SNV P122T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 315942 chr16 67218864 67218864 G A EXOC3L1 Stop gain Q616X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 315943 chr15 57816781 57816781 G C rs749940523 CGNL1 Nonsynonymous SNV M957I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 315944 chr16 66918570 66918570 C G PDP2 Nonsynonymous SNV S128C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 315945 chr16 83711896 83711896 C T rs116158714 CDH13 Synonymous SNV Y417Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 315946 chr16 85697023 85697023 G A rs146762745 GSE1 Nonsynonymous SNV R712K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 315947 chr16 81045673 81045673 G C rs779842046 CENPN Nonsynonymous SNV Q43H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 315948 chr16 88803991 88803991 G A rs768892966 PIEZO1 Stop gain Q391X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 315949 chr16 88504205 88504205 G C rs532857190 ZNF469 Nonsynonymous SNV G3443R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 315950 chr17 1374590 1374590 C T MYO1C Nonsynonymous SNV G688R 0 0 0.003 0 0 0 0 1 0 0 0 0 30 315951 chr17 1386203 1386203 G A rs780870025 MYO1C Synonymous SNV R166R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.914 315952 chr17 10432349 10432349 G C rs909751645 MYH2 Synonymous SNV S1134S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.187 315953 chr17 2573531 2573531 C T rs116237011 PAFAH1B1 Synonymous SNV F158F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.49 315954 chr17 19575116 19575116 A G ALDH3A2 Synonymous SNV L430L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.351 315955 chr16 23641444 23641444 A G rs864622756 PALB2 Synonymous SNV V677V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.07 315956 chr16 28997458 28997458 A G LAT Nonsynonymous SNV T56A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.955 315957 chr17 34398380 34398380 C T rs770237802 CCL18 Synonymous SNV S83S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 315958 chr17 27285098 27285098 T A SEZ6 Synonymous SNV P723P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 315959 chr17 27382139 27382139 G A rs201834259 PIPOX Nonsynonymous SNV R289H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.707 315960 chr17 35921673 35921673 C T rs775470160 SYNRG Nonsynonymous SNV M339I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 315961 chr17 32687593 32687593 C T rs144717869 CCL1 Synonymous SNV P92P 0 0 0.007 0 0 0 0 2 0 0 0 0 13.89 315962 chr17 35913459 35913459 G A rs145543728 SYNRG Nonsynonymous SNV S628L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 315963 chr17 39525674 39525674 A G rs750544446 KRT33B Nonsynonymous SNV I110T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 315964 chr16 4910904 4910904 C T rs780671438 UBN1 Nonsynonymous SNV A304V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 315965 chr16 57758563 57758563 G A rs747932271 DRC7 Nonsynonymous SNV R460H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.6 315966 chr16 58075692 58075692 G A rs376327026 MMP15 Nonsynonymous SNV R361Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 315967 chr16 66860476 66860476 C T rs377673251 NAE1 Synonymous SNV S59S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.58 315968 chr16 69778854 69778854 G A rs367807444 NOB1 Synonymous SNV S297S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.42 315969 chr17 436151 436151 G A rs146236757 VPS53 Synonymous SNV N643N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 315970 chr17 44950090 44950090 T C WNT9B Synonymous SNV H95H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.161 315971 chr17 45438872 45438872 C G EFCAB13 Nonsynonymous SNV H264D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 315972 chr16 74760185 74760185 C G FA2H Nonsynonymous SNV S184T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.32 315973 chr17 41165299 41165299 T C IFI35 Nonsynonymous SNV L95P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 315974 chr16 84229294 84229294 G A rs763031674 ADAD2 Nonsynonymous SNV R348H 0 0 0 1 0 0 0.003 0 0 0 0 0 6.129 315975 chr17 4722425 4722425 A T rs766498542 PLD2 Synonymous SNV T740T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 315976 chr17 4836307 4836307 G A GP1BA Synonymous SNV L136L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.026 315977 chr17 59820467 59820467 A G rs61754141 BRIP1 Synonymous SNV R762R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.823 315978 chr17 60451185 60451185 G C rs6504103 EFCAB3 Nonsynonymous SNV K15N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.2 315979 chr17 60766961 60766961 G A MRC2 Nonsynonymous SNV R1138Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 315980 chr16 89017301 89017301 G C rs111991345 LOC100129697 Nonsynonymous SNV A259P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.924 315981 chr17 54921477 54921477 C A rs61751969 DGKE Nonsynonymous SNV P188T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 315982 chr17 61744373 61744373 A G rs201709115 MAP3K3 Nonsynonymous SNV N152S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.489 315983 chr17 72540945 72540945 A G rs765739606 CD300C Nonsynonymous SNV I68T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 315984 chr17 6674163 6674163 A - rs753083406 XAF1 T168Pfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 315985 chr17 76464848 76464848 C T DNAH17 Nonsynonymous SNV A2877T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 315986 chr17 77079588 77079588 T C rs201399592 ENGASE Synonymous SNV Y389Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 315987 chr17 7811316 7811316 A G CHD3 Nonsynonymous SNV I1677V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 315988 chr17 75398467 75398467 G A rs775951302 SEPTIN9 Nonsynonymous SNV A128T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 315989 chr17 76567837 76567837 G A rs769909667 DNAH17 Synonymous SNV L189L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.54 315990 chr17 79660538 79660538 C T rs766958884 HGS Nonsynonymous SNV A223V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 315991 chr17 77807922 77807927 CCGCCA - rs761409501 CBX4 V505_A506del 0 0 0.003 0 0 0 0 1 0 0 0 0 315992 chr17 79504065 79504065 G A rs539902937 FSCN2 Nonsynonymous SNV D504N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 315993 chr17 79792801 79792801 C T rs750635325 PPP1R27 Nonsynonymous SNV R10H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 315994 chr17 79991636 79991636 C T rs754076137 RAC3 Synonymous SNV D170D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 315995 chr17 80017869 80017869 T G rs151063790 DUS1L Nonsynonymous SNV K375Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 315996 chr18 21594881 21594881 G A TTC39C Nonsynonymous SNV D16N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 315997 chr18 2890633 2890633 G T EMILIN2 Nonsynonymous SNV V170L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 315998 chr18 30349925 30349925 C T rs573874388 KLHL14 Synonymous SNV V210V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 315999 chr18 3102475 3102475 T C rs200480164 MYOM1 Nonsynonymous SNV N1095S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.99 316000 chr18 42618603 42618603 C T SETBP1 Nonsynonymous SNV A1385V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 316001 chr18 43438631 43438631 A G EPG5 Nonsynonymous SNV Y2376H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 316002 chr18 3596835 3596835 G T DLGAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.095 316003 chr18 3596897 3596897 C G DLGAP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.051 316004 chr18 55287858 55287858 C A rs747814344 NARS Nonsynonymous SNV E12D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 316005 chr18 43666980 43666980 G A rs765799829 ATP5F1A Synonymous SNV D340D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.821 316006 chr18 46645262 46645262 C T rs756929372 DYM Nonsynonymous SNV R532Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 316007 chr18 674401 674401 G A rs137865368 ENOSF1 Synonymous SNV P383P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.7 316008 chr17 5235328 5235328 C T RABEP1 Nonsynonymous SNV A40V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29.9 316009 chr19 10104458 10104458 G A rs143027568 COL5A3 Nonsynonymous SNV R538W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 316010 chr19 13029055 13029055 C G SYCE2 Nonsynonymous SNV A38P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.195 316011 chr19 13054419 13054419 C G CALR Synonymous SNV G343G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.973 316012 chr19 13879393 13879393 A G rs199781657 MRI1 Nonsynonymous SNV H189R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 316013 chr19 16136809 16136809 A G rs754964109 LINC00661 0 0 0.003 0 0 0 0 1 0 0 0 0 1.88 316014 chr19 14876163 14876163 T G rs112610420 ADGRE2 Nonsynonymous SNV Y292S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.135 316015 chr17 74288792 74288792 T C rs764379370 QRICH2 Synonymous SNV Q506Q 0.001 0 0.003 1 1 0 0.003 1 0 0 0 0 0.008 316016 chr19 15122073 15122073 C G rs934874525 CCDC105 Nonsynonymous SNV Q146E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.692 316017 chr19 18377799 18377799 G A rs140150515 IQCN Nonsynonymous SNV P184L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 316018 chr19 18710534 18710534 C T rs751204280 CRLF1 Nonsynonymous SNV G80R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 316019 chr19 1912875 1912875 C G rs766374171 ADAT3 Nonsynonymous SNV R261G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 316020 chr19 1990071 1990071 C T rs762077316 BTBD2 Nonsynonymous SNV R307Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 316021 chr19 21720256 21720256 C G rs553815757 ZNF429 Nonsynonymous SNV H403Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.001 316022 chr19 17830341 17830341 C T rs745875318 MAP1S Synonymous SNV A10A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 316023 chr19 18184375 18184375 C T rs17878522 IL12RB1 Synonymous SNV V245V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.748 316024 chr19 33701507 33701507 C T rs758117299 SLC7A10 Nonsynonymous SNV V377I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.49 316025 chr19 34945359 34945359 G A UBA2 Synonymous SNV G381G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.738 316026 chr19 35741354 35741355 TT - LSR F131Lfs*34 0 0 0.003 0 0 0 0 1 0 0 0 0 316027 chr19 35590111 35590111 C T HPN-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 4.73 316028 chr19 36123879 36123879 G A rs769200196 RBM42 Nonsynonymous SNV V162I 0 0 0.007 0 0 0 0 2 0 0 0 0 13.96 316029 chr19 4013176 4013176 G A rs577156557 PIAS4 Nonsynonymous SNV A95T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.847 316030 chr19 38689053 38689053 C T rs377395166 SIPA1L3 Nonsynonymous SNV S1622L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316031 chr19 44116502 44116502 C T rs753520169 SRRM5 Nonsynonymous SNV R77W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 316032 chr19 3983262 3983262 C T rs746012587 EEF2 Synonymous SNV S82S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 316033 chr19 39964878 39964878 A G SUPT5H Nonsynonymous SNV N882D 0 0 0.007 0 0 0 0 2 0 0 0 0 15.93 316034 chr19 44591260 44591260 T C rs139281499 ZNF284 Synonymous SNV D543D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 316035 chr18 56171238 56171238 C A rs753647182 ALPK2 Nonsynonymous SNV G2058C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 316036 chr19 43965844 43965844 G T rs137963990 LYPD3 Synonymous SNV R234R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.388 316037 chr19 44102992 44102992 G A rs774844095 ZNF576 Nonsynonymous SNV G32E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 316038 chr18 74778254 74778254 C T rs535536627 MBP Nonsynonymous SNV G47R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 316039 chr19 46288951 46288951 G A rs781640052 DMWD Synonymous SNV I601I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 316040 chr19 48048493 48048493 A G rs545510948 ZNF541 Synonymous SNV F431F 0.001 0 0.007 0 1 0 0 2 0 0 0 0 0.272 316041 chr19 48519225 48519225 T G rs942580988 ELSPBP1 Stop gain L95X 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 316042 chr19 52272670 52272670 T C FPR2 Synonymous SNV C253C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 316043 chr19 52537229 52537229 G C ZNF432 Nonsynonymous SNV S568C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 316044 chr19 52869482 52869482 G C ZNF610 Nonsynonymous SNV G241A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 316045 chr19 52942413 52942413 G A rs367837134 ZNF534 Nonsynonymous SNV R539Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 316046 chr19 498825 498825 G A rs551406626 MADCAM1 Nonsynonymous SNV V223I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 316047 chr19 53410164 53410164 A G ZNF888 Nonsynonymous SNV C471R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.366 316048 chr19 50248602 50248602 C T TSKS Synonymous SNV V348V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 316049 chr19 50979515 50979515 G C rs757425562 FAM71E1 Nonsynonymous SNV P44R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 316050 chr19 50979822 50979822 G A rs750340672 EMC10 Synonymous SNV G7G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.305 316051 chr19 51009775 51009775 G C JOSD2 Synonymous SNV P67P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.238 316052 chr19 51227329 51227329 G A CLEC11A Synonymous SNV E105E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 316053 chr19 17306273 17306273 C T rs368137053 MYO9B Nonsynonymous SNV T1346M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 316054 chr19 53472875 53472875 C T rs935489955 ZNF702P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.131 316055 chr19 55690426 55690426 A C rs371447173 SYT5 Nonsynonymous SNV S50A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.514 316056 chr19 2291121 2291121 G T LINGO3 Nonsynonymous SNV R219S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.9 316057 chr19 56133960 56133960 G A ZNF784 Synonymous SNV I43I 0 0 0.007 0 0 0 0 2 0 0 0 0 14.43 316058 chr19 56693620 56693620 C T rs3745833 GALP Synonymous SNV I72I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.284 316059 chr19 6953177 6953177 C T rs147513411 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.656 316060 chr19 33792688 33792688 C A CEBPA Synonymous SNV A92A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.29 316061 chr19 877009 877009 C T rs72984032 MED16 Nonsynonymous SNV E509K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 316062 chr19 5894816 5894816 C T rs748679456 NDUFA11 Synonymous SNV A121A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.522 316063 chr19 9073059 9073059 G C rs765644259 MUC16 Nonsynonymous SNV T4796R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 316064 chr19 9086328 9086328 T C rs776849778 MUC16 Synonymous SNV P1829P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.381 316065 chr19 8436238 8436238 G A rs150000287 ANGPTL4 Nonsynonymous SNV V253M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 8.736 316066 chr19 8997534 8997534 C T rs780034331 MUC16 Nonsynonymous SNV A13630T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 316067 chr1 10132120 10132120 G C UBE4B Nonsynonymous SNV G20A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 316068 chr1 10510296 10510296 G C CORT Nonsynonymous SNV G6R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 316069 chr1 108307709 108307709 G C VAV3 Nonsynonymous SNV L304V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 316070 chr1 109273373 109273373 G A rs775558951 FNDC7 Nonsynonymous SNV V568M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 316071 chr19 9066813 9066813 T G rs779488392 MUC16 Nonsynonymous SNV E6878A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.158 316072 chr1 109801620 109801620 T C rs200857942 CELSR2 Nonsynonymous SNV Y1293H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 316073 chr1 100195237 100195237 G A rs142004734 FRRS1 Nonsynonymous SNV T276M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.191 316074 chr1 1026359 1026359 G A rs72910128 C1orf159 Nonsynonymous SNV T26M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.182 316075 chr1 114453831 114453831 G C DCLRE1B Nonsynonymous SNV R80P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 316076 chr1 115469176 115469176 G A rs756169485 SYCP1 Nonsynonymous SNV E640K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 316077 chr19 48525469 48525469 T C rs75838973 ELSPBP1 Nonsynonymous SNV F186S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 316078 chr1 119530301 119530301 G A rs949811460 TBX15 Synonymous SNV L40L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 316079 chr19 49686127 49686127 A G TRPM4 Nonsynonymous SNV Y165C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 316080 chr1 1334663 1334663 - GCCGCC CCNL2 A8_G9insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 316081 chr19 50042435 50042435 C A rs151007768 RCN3 Synonymous SNV I226I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.53 316082 chr1 152128115 152128150 TAGTGGGAACTCTGGCCTTGTTTGTCTGGCTGACTG - RPTN S476_Y487del 0 0 0.003 0 0 0 0 1 0 0 0 0 316083 chr1 150484991 150484991 G A rs144325366 ECM1 Nonsynonymous SNV R291Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 316084 chr19 50964886 50964886 T G rs756085622 MYBPC2 Nonsynonymous SNV Y1007D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.9 316085 chr1 153066138 153066138 C T rs201389120 SPRR2E Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 316086 chr19 51171797 51171797 C A SHANK1 Synonymous SNV P1140P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 316087 chr1 154108351 154108351 G A rs201320832 NUP210L Synonymous SNV D316D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.645 316088 chr1 153509861 153509861 C T rs140492850 S100A5 Nonsynonymous SNV D64N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316089 chr1 156104208 156104208 A T rs1026599240 LMNA Synonymous SNV L64L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.477 316090 chr1 159558216 159558216 G A APCS Synonymous SNV G130G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.591 316091 chr1 156838353 156838353 G A rs201192875 NTRK1 Nonsynonymous SNV V211M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 316092 chr1 161176331 161176331 A G rs754241926 NDUFS2 Nonsynonymous SNV I113V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.65 316093 chr1 157665235 157665235 C A rs911078938 FCRL3 Nonsynonymous SNV G432V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 316094 chr1 161197777 161197777 C T rs755447268 TOMM40L Nonsynonymous SNV S96L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 316095 chr1 161298189 161298189 T C rs876659297 SDHC Synonymous SNV A27A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.731 316096 chr8 144411603 144411603 C T rs200830353 TOP1MT Nonsynonymous SNV A93T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 316097 chr8 144523193 144523193 C T rs376452593 ZC3H3 Nonsynonymous SNV R802H 0.001 0 0 0 1 0 0 0 0 0 0 0 22 316098 chr8 144618530 144618530 G A rs73715666 ZC3H3 Synonymous SNV S486S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 316099 chr8 144641706 144641706 G A rs141833518 GSDMD Synonymous SNV P67P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.678 316100 chr8 144649996 144649996 A G rs200168332 MROH6 Synonymous SNV S609S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.448 316101 chr1 159856417 159856417 G A rs766663881 CFAP45 Synonymous SNV I217I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 316102 chr1 161693193 161693193 C G rs751302295 FCRLB Nonsynonymous SNV P23R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 316103 chr19 55877382 55877382 C T rs545164548 IL11 Nonsynonymous SNV R119Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 316104 chr8 145113221 145113221 C T rs782821148 OPLAH Synonymous SNV P290P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.663 316105 chr8 145138941 145138941 C G GPAA1 Nonsynonymous SNV T205S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 316106 chr1 17314656 17314656 T A rs55708915 ATP13A2 Nonsynonymous SNV I902F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 316107 chr8 145583978 145583978 A G SLC52A2 Nonsynonymous SNV S276G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 316108 chr8 146112247 146112249 TTG - rs138214845 ZNF250 Q108del 0.001 0 0 0 1 0 0 0 0 0 0 0 316109 chr1 175304868 175304868 C T rs369471259 TNR Nonsynonymous SNV V871M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 316110 chr1 201031168 201031168 C T rs140453525 CACNA1S Nonsynonymous SNV R986H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.64 316111 chr1 201172897 201172897 A G IGFN1 Nonsynonymous SNV N260S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 316112 chr9 94821550 94821550 C T SPTLC1 Nonsynonymous SNV A201T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 316113 chr1 201356206 201356206 G A rs188007352 LAD1 Nonsynonymous SNV R95W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316114 chr9 101151281 101151281 C T rs202080871 GABBR2 Nonsynonymous SNV E462K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 316115 chr1 100203701 100203701 C T rs759815789 FRRS1 Nonsynonymous SNV E234K 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 316116 chr9 112930760 112930762 GAA - PALM2AKAP2 E945del 0.001 0 0 0 1 0 0 0 0 0 0 0 316117 chr1 210010363 210010363 G A rs763964757 UTP25 Nonsynonymous SNV R290Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 316118 chr9 114982603 114982603 T C rs769471128 PTBP3 Nonsynonymous SNV H498R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.227 316119 chr9 117848891 117848891 G A rs746230579 TNC Synonymous SNV S373S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 316120 chr1 222803535 222803535 A G MIA3 Synonymous SNV E991E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.151 316121 chr9 125140833 125140833 C T rs539608410 PTGS1 Synonymous SNV L2L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 316122 chr1 223178054 223178054 C A DISP1 Stop gain Y1105X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 316123 chr9 125898353 125898353 C T rs747088153 STRBP Synonymous SNV A566A 0.001 0 0 0 1 0 0 0 0 0 0 0 21 316124 chr1 228464720 228464720 A G rs760116430 OBSCN Nonsynonymous SNV N2193D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 316125 chr1 228482061 228482061 G A OBSCN Synonymous SNV G3780G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.058 316126 chr1 228562438 228562438 G A rs143872350 OBSCN Nonsynonymous SNV V7550I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.766 316127 chr1 229631788 229631788 T C rs756641144 NUP133 Nonsynonymous SNV S276G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 316128 chr1 231747807 231747807 C T rs16854643 LINC00582 0 0 0.003 0 0 0 0 1 0 0 0 0 6.788 316129 chr1 229633913 229633913 A G rs201054748 NUP133 Synonymous SNV F263F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.608 316130 chr1 23240015 23240015 C T rs779481910 EPHB2 Synonymous SNV I913I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 316131 chr1 144931459 144931459 G A PDE4DIP Synonymous SNV L84L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.76 316132 chr1 236180497 236180499 GCG - rs1023405571 NID1 R735del 0 0 0.003 0 0 0 0 1 0 0 0 0 316133 chr1 236687517 236687517 G C rs562748383 LGALS8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 316134 chr9 135204030 135204030 C T rs201251074 SETX Synonymous SNV S985S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.51 316135 chr1 240975295 240975295 G A rs776954930 RGS7 Synonymous SNV D282D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 316136 chr1 240256320 240256320 C A rs1040050645 FMN2 Nonsynonymous SNV A304E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 316137 chr9 138831573 138831573 G A rs114216175 UBAC1 Synonymous SNV D303D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.43 316138 chr1 154842205 154842205 - GCTGCTGCTGCTGCT KCNN3 Q80_P81insQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 316139 chr1 248112546 248112546 C T rs758965658 OR2L8 Synonymous SNV L129L 0 0 0.01 0 0 0 0 3 0 0 0 0 11.17 316140 chr1 159166243 159166243 G A CADM3 Nonsynonymous SNV V261I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.25 316141 chr1 26383722 26383722 G A rs147739771 TRIM63 Synonymous SNV D317D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.238 316142 chr1 27874758 27874758 G A rs146875431 AHDC1 Nonsynonymous SNV A1290V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 316143 chr1 27683124 27683124 G C rs775770475 MAP3K6 Nonsynonymous SNV P1153A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 316144 chr1 161129502 161129502 - G rs912547145 USP21 Frameshift insertion A7Gfs*29 0 0 0 1 0 0 0.003 0 0 0 0 0 316145 chr1 161134371 161134371 A G rs543394546 USP21 Synonymous SNV T480T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 0.043 316146 chr1 28148826 28148826 T G rs765642541 STX12 Nonsynonymous SNV Y273D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.81 316147 chr1 28856395 28856395 T C rs370351310 RCC1 Nonsynonymous SNV I6T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 316148 chr1 31346158 31346158 C T rs767402418 SDC3 Nonsynonymous SNV R410H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 316149 chr1 32196569 32196569 C T rs767644881 ADGRB2 Synonymous SNV S1371S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 316150 chr1 32628093 32628093 C G rs150602159 KPNA6 Synonymous SNV S293S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 316151 chr1 32793206 32793206 C T rs146340055 HDAC1 Synonymous SNV Y188Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.772 316152 chr1 33957270 33957270 C T rs201579925 ZSCAN20 Nonsynonymous SNV A471V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.09 316153 chr1 36031201 36031201 G A NCDN Synonymous SNV A692A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 316154 chr1 3774257 3774257 - C rs769123469 DFFB Frameshift insertion R31Pfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 316155 chr1 40702864 40702864 A G RLF Synonymous SNV S830S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.165 316156 chr1 40775963 40775963 T C rs759486624 COL9A2 Synonymous SNV P237P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.17 316157 chr1 40880944 40880944 A G rs201585812 SMAP2 Nonsynonymous SNV D161G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 316158 chr1 175129949 175129949 C - rs780679146 KIAA0040 K68Rfs*34 0.001 0 0 1 1 0 0.003 0 0 0 0 0 316159 chr1 175129951 175129955 TCTTG - rs748096623 KIAA0040 N65Kfs*11 0.001 0 0 1 1 0 0.003 0 0 0 0 0 316160 chr1 44019214 44019214 G A PTPRF Nonsynonymous SNV G48E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 316161 chr1 177927479 177927479 T C rs34857388 CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV I44V 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.51 316162 chr1 46088674 46088674 A G rs149867868 CCDC17 Synonymous SNV A203A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.16 316163 chr1 180243432 180243432 A G LHX4 Synonymous SNV Q297Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.619 316164 chr1 53153791 53153791 C T rs762820526 COA7 Synonymous SNV A99A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 316165 chr1 53347216 53347216 T C rs370602817 ZYG11A Nonsynonymous SNV L266S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 316166 chr10 50740659 50740659 G A rs377708438 ERCC6 Nonsynonymous SNV H118Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 316167 chr1 55060299 55060299 G A rs551000440 ACOT11 Nonsynonymous SNV R181Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 316168 chr1 55144511 55144511 T C MROH7 Nonsynonymous SNV I196T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 316169 chr10 67680275 67680275 C A rs373081692 CTNNA3 Nonsynonymous SNV R834L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.2 316170 chr10 70644329 70644329 A G rs200497618 STOX1 Synonymous SNV P259P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 316171 chr1 66038115 66038115 C G LEPR Synonymous SNV V159V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.107 316172 chr1 7895836 7895836 A G PER3 Nonsynonymous SNV S1077G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 316173 chr10 81037082 81037082 G A rs113562619 ZMIZ1 Nonsynonymous SNV S142N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.33 316174 chr10 85901354 85901354 C T rs199600489 GHITM Nonsynonymous SNV T33M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.753 316175 chr1 203672934 203672934 G A rs201495785 ATP2B4 Synonymous SNV G364G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.673 316176 chr10 89690828 89690828 G A rs202004587 PTEN Nonsynonymous SNV A79T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22 316177 chr1 89477547 89477547 G A rs142677853 GBP3 Synonymous SNV P210P 0 0 0.007 0 0 0 0 2 0 0 1 0 10.53 316178 chr1 90178711 90178711 C T rs142399220 LRRC8C Synonymous SNV N194N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.637 316179 chr10 96267076 96267076 T A TBC1D12 Nonsynonymous SNV S524R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.18 316180 chr10 101716897 101716897 C T rs201560883 DNMBP Nonsynonymous SNV A112T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.29 316181 chr20 17943518 17943518 A G rs549134636 SNORD17 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 316182 chr20 17943519 17943519 C T rs567708592 SNORD17 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 316183 chr10 102753262 102753262 A C rs369223258 TWNK Nonsynonymous SNV K230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.139 316184 chr10 102765216 102765216 C T rs750190121 LZTS2 Nonsynonymous SNV A137V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.347 316185 chr20 22562863 22562863 T G FOXA2 Synonymous SNV P339P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 316186 chr20 3028453 3028453 A T MRPS26 Nonsynonymous SNV N186Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 316187 chr20 33345113 33345113 C A NCOA6 Nonsynonymous SNV V480F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 316188 chr20 33148734 33148734 T C rs145235171 PIGU Nonsynonymous SNV Y415C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.27 316189 chr1 22927953 22927953 C T rs774311718 EPHA8 Nonsynonymous SNV R964C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 316190 chr20 409632 409632 A G rs371077650 RBCK1 Nonsynonymous SNV Q279R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.01 316191 chr1 236906323 236906323 C T rs139515659 ACTN2 Nonsynonymous SNV T412M 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.56 316192 chr20 39976190 39976190 A T LPIN3 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 316193 chr20 39991212 39991212 G T rs373873566 EMILIN3 Synonymous SNV R333R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.772 316194 chr1 232943635 232943635 C G rs755730554 MAP10 Nonsynonymous SNV Q956E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.118 316195 chr10 134755589 134755591 CTT - CFAP46 K23del 0.001 0 0 0 1 0 0 0 0 0 0 0 316196 chr20 43739088 43739088 C T rs775000557 WFDC5 Nonsynonymous SNV R107Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 316197 chr20 44463016 44463024 CGAGGACGA - rs547874769 SNX21 D72_D74del 0 0 0.003 0 0 0 0 1 0 0 0 0 316198 chr1 243589838 243589838 G A rs776040834 SDCCAG8 Nonsynonymous SNV V557I 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Uncertain significance 1.621 316199 chr20 49508035 49508038 CTCA - ADNP S1071Rfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 316200 chr1 244735724 244735724 A G CATSPERE Nonsynonymous SNV T383A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.02 316201 chr1 247267337 247267337 - GCCCG ZNF669 Frameshift insertion A58Gfs*42 0 0 0 1 0 0 0.003 0 0 0 0 0 316202 chr20 55905023 55905023 C - rs1055667414 SPO11 P35Qfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 316203 chr11 798246 798264 GCCCGCCCCGCGCTCGGCC - PANO1 P208Afs*201 0.002 0 0 0 2 0 0 0 0 0 0 0 316204 chr20 60704942 60704942 G C LSM14B Nonsynonymous SNV G177R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 316205 chr1 248756999 248756999 G A OR2T10 Nonsynonymous SNV P24L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.36 316206 chr20 62422101 62422101 G A ZBTB46 Stop gain R4X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 316207 chr1 29189425 29189425 A G rs145954249 OPRD1 Nonsynonymous SNV K250R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.28 316208 chr11 1097783 1097783 C T rs371062018 MUC2 Synonymous SNV N2292N 0.003 0 0 0 3 0 0 0 0 0 0 0 11.52 316209 chr1 29563185 29563185 C A PTPRU Nonsynonymous SNV A10E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 316210 chr1 31655422 31655422 A T rs202161529 NKAIN1 Nonsynonymous SNV F163I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 316211 chr1 32196652 32196652 G A rs775621541 ADGRB2 Nonsynonymous SNV R1344W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 316212 chr21 33671291 33671291 C A MRAP Nonsynonymous SNV N3K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 316213 chr21 34956951 34956951 T G DONSON Nonsynonymous SNV K244Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 316214 chr11 4566916 4566916 C T rs201510674 OR52M1 Nonsynonymous SNV R166C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 316215 chr21 37783787 37783787 C T rs754039374 CHAF1B Nonsynonymous SNV R316C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 316216 chr21 43133031 43133031 C T rs548317971 LINC00479 0 0 0.003 0 0 0 0 1 0 0 0 0 4.27 316217 chr21 43412171 43412171 C T rs746169227 ZBTB21 Synonymous SNV A678A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 316218 chr1 52275019 52275019 T A NRDC Nonsynonymous SNV D653V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 316219 chr1 53370445 53370445 G A rs762189564 ECHDC2 Nonsynonymous SNV T161M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 316220 chr21 45945694 45945694 G C rs373638335 TSPEAR Nonsynonymous SNV P393R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.796 316221 chr21 45948430 45948430 G A rs781893663 TSPEAR Nonsynonymous SNV P276L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.434 316222 chr21 46363667 46363667 G C rs768312237 FAM207A Nonsynonymous SNV K66N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.74 316223 chr1 6206388 6206388 G A rs776651479 CHD5 Synonymous SNV D562D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.475 316224 chr22 17624013 17624013 C T rs190413708 HDHD5 Synonymous SNV P152P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.764 316225 chr22 21161679 21161679 A C rs925953977 PI4KA Nonsynonymous SNV M358R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 316226 chr22 23523834 23523834 C G BCR Synonymous SNV P229P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.353 316227 chr11 7846730 7846730 A T rs148302710 OR5P3 Nonsynonymous SNV S264T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 316228 chr1 8415525 8415525 G A RERE Nonsynonymous SNV P987S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 316229 chr22 31091134 31091134 T - OSBP2 S80Rfs*35 0 0 0.003 0 0 0 0 1 0 0 0 0 316230 chr22 31091137 31091141 GAACC - OSBP2 E81Cfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 316231 chr22 30771573 30771573 G A rs138771176 CCDC157 Nonsynonymous SNV R593Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 316232 chr22 34022302 34022302 G A rs115575249 LARGE1 Synonymous SNV H139H 0 0 0.003 0 0 0 0 1 0 0 0 0 13 316233 chr11 20181741 20181741 G A rs189086023 DBX1 Synonymous SNV L44L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.55 316234 chr22 37964225 37964225 - C CDC42EP1 Frameshift insertion L193Sfs*31 0 0 0.003 0 0 0 0 1 0 0 0 0 316235 chr22 37964227 37964227 - A CDC42EP1 Frameshift insertion L193Tfs*31 0 0 0.003 0 0 0 0 1 0 0 0 0 316236 chr22 38690487 38690487 G A rs369439759 CSNK1E, TPTEP2-CSNK1E Synonymous SNV R313R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 316237 chr22 42354487 42354487 - GA LINC00634 0 0 0.003 0 0 0 0 1 0 0 0 0 316238 chr20 13709038 13709038 T G rs775216646 ESF1 Nonsynonymous SNV E675D 0 0 0 1 0 0 0.003 0 0 0 0 0 25 316239 chr22 42997984 42997984 C T POLDIP3 Nonsynonymous SNV A194T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.44 316240 chr11 45944690 45944690 C G LARGE2 Nonsynonymous SNV P86R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.918 316241 chr22 46688758 46688758 G C rs772427896 TTC38 Nonsynonymous SNV A463P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.488 316242 chr22 47189509 47189509 C T rs138211003 TBC1D22A Synonymous SNV D58D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 316243 chr22 47857356 47857356 G A rs116961986 LINC01644 0 0 0.003 0 0 0 0 1 0 0 0 0 3.575 316244 chr22 50298100 50298100 G C rs182006999 ALG12 Nonsynonymous SNV I349M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.883 316245 chr22 50705457 50705457 C T rs200318455 MAPK11 Synonymous SNV A172A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 316246 chr20 2463953 2463953 T C rs780038656 ZNF343 Nonsynonymous SNV S462G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.087 316247 chr22 50969457 50969457 A C ODF3B Nonsynonymous SNV L150W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 316248 chr20 2464876 2464876 C A rs761554445 ZNF343 Nonsynonymous SNV R154I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.605 316249 chr2 108626880 108626880 G A rs148535388 SLC5A7 Nonsynonymous SNV V331M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.94 316250 chr2 112917364 112917364 G A rs147562751 FBLN7 Nonsynonymous SNV A63T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 316251 chr2 113343918 113343918 G A rs139481240 CHCHD5 Synonymous SNV P57P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.916 316252 chr20 35421819 35421819 G C rs564328004 SOGA1 Nonsynonymous SNV P1556A 0.002 0 0.003 0 2 0 0 1 0 0 0 0 1.375 316253 chr20 3640568 3640568 C T rs74740423 GFRA4 Synonymous SNV P296P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.39 316254 chr20 3653223 3653223 C T rs11908384 ADAM33 Synonymous SNV G454G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 12.3 316255 chr2 120980142 120980142 A G rs530548404 TMEM185B Synonymous SNV D137D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 316256 chr20 44581012 44581012 C T rs1044004938 ZNF335 Nonsynonymous SNV S988N 0 0.003 0 0 0 1 0 0 0 0 0 0 5.142 316257 chr2 128408605 128408605 T C GPR17 Nonsynonymous SNV F99S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 316258 chr2 128918812 128918812 A G UGGT1 Nonsynonymous SNV H932R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 316259 chr2 137814108 137814108 G A rs767561208 THSD7B Synonymous SNV R86R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 316260 chr20 55206675 55206675 G T rs768462459 TFAP2C Nonsynonymous SNV A155S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 3.047 316261 chr2 153575140 153575140 T C ARL6IP6 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 316262 chr20 5843672 5843672 A G rs114118253 SHLD1 Nonsynonymous SNV T61A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 316263 chr2 160714978 160714978 T G rs754653478 LY75, LY75-CD302 Synonymous SNV R760R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.623 316264 chr20 61453127 61453127 G A rs139401633 COL9A3 Nonsynonymous SNV G130S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 26.4 316265 chr20 61537145 61537145 A G DIDO1 Nonsynonymous SNV L561S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.667 316266 chr2 170175363 170175363 C G rs773487420 LRP2 Nonsynonymous SNV K73N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 316267 chr20 62328171 62328171 G A rs765501468 TNFRSF6B Synonymous SNV A17A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.92 316268 chr2 179255858 179255858 G A rs141909178 OSBPL6 Nonsynonymous SNV G756E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 316269 chr2 179464365 179464365 G A rs143659933 TTN Nonsynonymous SNV R9690C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 316270 chr2 183703239 183703239 C T rs112797950 FRZB Nonsynonymous SNV R232Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 316271 chr21 30426487 30426487 A G rs775306563 USP16 Synonymous SNV L816L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.87 316272 chr11 67261790 67261790 G A rs369890087 PITPNM1 Synonymous SNV C927C 0.002 0 0 0 2 0 0 0 0 0 0 0 7.339 316273 chr11 67378636 67378636 G A rs1017020344 NDUFV1 Nonsynonymous SNV E282K 0.002 0 0 0 2 0 0 0 0 0 0 0 25.6 316274 chr21 33694812 33694812 C A rs950963173 URB1 Nonsynonymous SNV Q1772H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 316275 chr21 34632925 34632925 G C rs138402252 IFNAR2 Nonsynonymous SNV G245R 0.003 0 0 0 3 0 0 0 0 0 0 0 21.2 316276 chr11 66393969 66393969 T G RBM14 Nonsynonymous SNV Y614D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 316277 chr21 34883665 34883665 G A rs765821416 GART Synonymous SNV G736G 0.002 0 0 0 2 0 0 0 0 0 0 0 12.73 316278 chr21 37416244 37416244 G A rs140817219 SETD4 Nonsynonymous SNV A246V 0.002 0 0 0 2 0 0 0 0 0 0 0 28.7 316279 chr11 73071533 73071533 C T rs145408684 ARHGEF17 Nonsynonymous SNV R1459C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 316280 chr2 190428508 190428508 C T rs77810585 SLC40A1 Nonsynonymous SNV V402I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 316281 chr2 202070687 202070687 C A CASP10 Synonymous SNV T268T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 316282 chr2 20131130 20131130 C T rs780666056 WDR35 Nonsynonymous SNV R955H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 316283 chr21 44840247 44840247 G C rs748461681 SIK1, SIK1B Nonsynonymous SNV A280G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 316284 chr2 207310092 207310092 A G rs758032652 ADAM23 Synonymous SNV T92T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.824 316285 chr21 47545398 47545398 C T rs141257132 COL6A2 Synonymous SNV G612G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 18.33 316286 chr21 47693340 47693340 A T MCM3AP Nonsynonymous SNV Y720N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 316287 chr21 47655298 47655298 C G rs562593941 MCM3AP Nonsynonymous SNV G1943R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.61 316288 chr2 219447711 219447711 T C CNOT9 Synonymous SNV Y74Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.541 316289 chr22 21328354 21328354 G A rs768350092 AIFM3 Nonsynonymous SNV V120I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 316290 chr22 19960473 19960473 T G rs137940889 ARVCF Nonsynonymous SNV D842A 0.003 0 0 0 3 0 0 0 0 0 0 0 14.35 316291 chr2 220353824 220353826 ACA - rs746661931 SPEG N2734del 0 0 0.003 0 0 0 0 1 0 0 0 0 316292 chr11 108206637 108206637 G A rs759069006 ATM Synonymous SNV L2739L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.6 316293 chr11 108352087 108352087 A G rs369898073 POGLUT3 Synonymous SNV N306N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.498 316294 chr22 24036650 24036650 C G GUSBP11 0 0 0 1 0 0 0.003 0 0 0 0 0 4.452 316295 chr11 117864768 117864768 G A rs761879815 IL10RA Nonsynonymous SNV V198M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.757 316296 chr22 24717517 24717517 C T rs142144652 SPECC1L Nonsynonymous SNV T190M 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 316297 chr11 118485274 118485274 A G PHLDB1 Nonsynonymous SNV K21E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 316298 chr11 117265852 117265852 G A rs184333345 CEP164 Nonsynonymous SNV R956Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 316299 chr11 118898908 118898908 C T rs78735156 SLC37A4 Nonsynonymous SNV R126Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 316300 chr11 117969787 117969787 C T rs148550252 TMPRSS4 Nonsynonymous SNV A44V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.802 316301 chr11 119535678 119535678 - CTT NECTIN1 E444_G445insK 0.001 0 0 0 1 0 0 0 0 0 0 0 316302 chr11 118374143 118374143 C G KMT2A Synonymous SNV A2512A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.099 316303 chr11 118516527 118516527 G A rs782386722 PHLDB1 Nonsynonymous SNV R1117Q 0.001 0 0 0 1 0 0 0 0 0 0 0 30 316304 chr22 30738810 30738810 C T rs777851529 SF3A1 Nonsynonymous SNV R237Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 316305 chr22 31487092 31487092 C T rs200521148 SMTN Synonymous SNV P417P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.279 316306 chr22 31487732 31487732 C T rs116300758 SMTN Nonsynonymous SNV R567C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 27 316307 chr22 35799304 35799304 A C MCM5 Nonsynonymous SNV Q91P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 316308 chr22 36597935 36597935 C T APOL4 0 0 0 1 0 0 0.003 0 0 0 0 0 4.733 316309 chr2 241660418 241660418 G A rs201825284 KIF1A Nonsynonymous SNV S1493L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.1 316310 chr2 241660428 241660428 G T KIF1A Synonymous SNV R1490R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 316311 chr2 241696826 241696828 TCC - KIF1A E922del 0 0 0.003 0 0 0 0 1 0 0 0 0 316312 chr2 242008416 242008416 C T rs181126526 SNED1 Synonymous SNV T1095T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 316313 chr22 41574121 41574121 A G rs372874467 EP300 Nonsynonymous SNV M2110V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.155 316314 chr22 41924022 41924022 G A ACO2 Nonsynonymous SNV G735D 0.001 0 0 0 1 0 0 0 0 0 0 0 25 316315 chr22 40760365 40760365 G A rs763542069 ADSL Nonsynonymous SNV R396H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 316316 chr22 40815039 40815039 T C rs556423980 MRTFA Nonsynonymous SNV E468G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.9 316317 chr12 250276 250276 A C LOC574538 0.001 0 0 0 1 0 0 0 0 0 0 0 5.395 316318 chr12 274981 274981 G A IQSEC3 Nonsynonymous SNV E663K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 316319 chr22 42305951 42305951 G A SHISA8 Nonsynonymous SNV P338S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 6.672 316320 chr22 43614381 43614381 G A rs150769460 SCUBE1 Nonsynonymous SNV R591W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 316321 chr22 41320373 41320373 G A rs79385822 XPNPEP3 Nonsynonymous SNV R415Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 316322 chr22 45258454 45258454 G A ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV M427I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 0.012 316323 chr12 4722822 4722822 C T rs199555716 DYRK4 Nonsynonymous SNV S203L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.57 316324 chr2 28616659 28616659 G C FOSL2 Nonsynonymous SNV E24D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 316325 chr2 37415643 37415643 C T rs778510865 SULT6B1 Synonymous SNV A47A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 316326 chr2 39417624 39417624 G C rs56049461 CDKL4 Synonymous SNV T158T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 316327 chr22 50893007 50893007 G A rs190945041 SBF1 Synonymous SNV R1634R 0.002 0 0.007 0 2 0 0 2 0 0 0 0 Likely benign 13.55 316328 chr2 48936095 48936095 C T rs267599401 LHCGR Synonymous SNV P224P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 316329 chr2 55407646 55407646 C T CLHC1 Nonsynonymous SNV D256N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 316330 chr2 100938229 100938229 G T LONRF2 Synonymous SNV R109R 0 0 0 1 0 0 0.003 0 0 0 0 0 10.83 316331 chr2 48809291 48809291 C T rs769045948 STON1, STON1-GTF2A1L Synonymous SNV L507L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.943 316332 chr2 101185402 101185402 A G PDCL3 Nonsynonymous SNV Y48C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 316333 chr2 50318477 50318477 G T rs201812430 NRXN1 Synonymous SNV I199I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 316334 chr2 54117344 54117344 A C PSME4 Nonsynonymous SNV V1398G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 316335 chr2 103334914 103334914 T C MFSD9 Nonsynonymous SNV S403G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 316336 chr2 55591127 55591127 C T CCDC88A Nonsynonymous SNV D149N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 316337 chr2 66796213 66796213 C T MEIS1 Synonymous SNV G382G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.37 316338 chr2 69207889 69207889 G A rs754540068 GKN1 Synonymous SNV T178T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.785 316339 chr2 71300692 71300692 T C rs139590364 NAGK Nonsynonymous SNV Y132H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.022 316340 chr12 21665245 21665245 G A rs34378602 GOLT1B Nonsynonymous SNV V105I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 316341 chr2 79254997 79254997 G A rs147143164 REG3G Stop gain W87X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 316342 chr2 84804442 84804442 G T rs775847475 DNAH6 Synonymous SNV A662A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 316343 chr2 121726318 121726318 G A rs147049153 GLI2 Synonymous SNV T99T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.57 316344 chr2 120128332 120128332 G A rs148808634 DBI Synonymous SNV L48L 0.002 0.003 0 0 2 1 0 0 0 0 0 0 12.16 316345 chr2 127453543 127453543 T C rs115201071 GYPC Nonsynonymous SNV I52T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.82 316346 chr12 31451095 31451097 CCC - SINHCAF E14_G15delinsD 0.001 0 0 0 1 0 0 0 0 0 0 0 316347 chr2 127826606 127826606 G A BIN1 Nonsynonymous SNV S138L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 316348 chr2 88382086 88382086 C T rs10202149 MIR4780 0 0 0.003 0 0 0 0 1 0 0 0 0 6.32 316349 chr2 88405860 88405860 G A rs114851602 SMYD1 Nonsynonymous SNV R320Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 316350 chr12 41966438 41966438 C G rs151221740 PDZRN4 Nonsynonymous SNV N361K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 316351 chr2 97526603 97526603 G A rs200135501 SEMA4C Synonymous SNV P754P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.505 316352 chr2 98413335 98413335 C T rs370967376 TMEM131 Synonymous SNV T995T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 316353 chr2 144714821 144714821 T C rs376932571 GTDC1 Synonymous SNV V228V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.812 316354 chr2 1437238 1437238 C G rs17855780 TPO Nonsynonymous SNV P70A 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 12.36 316355 chr12 49937975 49937975 G A KCNH3 Synonymous SNV L273L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.781 316356 chr2 152353514 152353514 G A NEB Nonsynonymous SNV P8112S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.91 316357 chr2 153547483 153547483 G C rs746752065 PRPF40A Nonsynonymous SNV S155C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 316358 chr3 111795816 111795816 C T rs201336233 TMPRSS7 Synonymous SNV H557H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 316359 chr2 162251708 162251708 C T rs547423734 PSMD14 Synonymous SNV Y255Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.6 316360 chr3 113015652 113015652 C G rs780669248 CFAP44 Nonsynonymous SNV V1720L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 316361 chr2 166152416 166152416 G A rs1007052146 SCN2A Nonsynonymous SNV R28H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 316362 chr2 160994651 160994651 T C rs201712748 ITGB6 Synonymous SNV S294S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.026 316363 chr2 168105145 168105145 A G XIRP2 Nonsynonymous SNV K2193E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 316364 chr3 121650550 121650550 T G rs758687526 SLC15A2 Nonsynonymous SNV F546V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 316365 chr12 53679809 53679809 G A rs201215189 ESPL1 Nonsynonymous SNV E1097K 0.001 0 0 0 1 0 0 0 0 0 0 0 23 316366 chr2 179442329 179442329 C T rs199506676 TTN Nonsynonymous SNV E13877K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.3 316367 chr2 179590653 179590653 C T rs780069933 TTN Nonsynonymous SNV R5555Q 0.003 0 0 0 3 0 0 0 0 0 0 0 Uncertain significance 23.8 316368 chr12 55714957 55714957 T G rs766544893 OR6C1 Nonsynonymous SNV F192V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 316369 chr12 56137278 56137278 G T GDF11 Nonsynonymous SNV D60Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 316370 chr12 57005999 57005999 G A rs751648796 BAZ2A Synonymous SNV D389D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.605 316371 chr3 128720907 128720907 C T rs780841462 EFCC1 Nonsynonymous SNV H146Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 316372 chr3 12950000 12950000 G A rs779875195 IQSEC1 Synonymous SNV V868V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.198 316373 chr12 58111666 58111666 C T rs142357221 OS9 Synonymous SNV N321N 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.54 316374 chr3 130463466 130463466 A G rs370306026 PIK3R4 Synonymous SNV P199P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.802 316375 chr12 57865690 57865690 C T GLI1 Nonsynonymous SNV P928L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 316376 chr3 133526622 133526622 G A rs142435083 SRPRB Synonymous SNV T94T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 316377 chr3 133647346 133647346 G A rs139461818 C3orf36 0 0 0.003 0 0 0 0 1 0 0 0 0 4.283 316378 chr3 133647506 133647506 G A rs145493988 C3orf36 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 316379 chr3 137981393 137981393 C T rs76579989 NME9 Nonsynonymous SNV D259N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.718 316380 chr3 138664623 138664623 G A rs964202335 FOXL2 Synonymous SNV A314A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.601 316381 chr3 138153666 138153666 C G rs34196667 ESYT3 Nonsynonymous SNV P9R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 316382 chr12 75824776 75824776 C T rs777552643 GLIPR1L2 Synonymous SNV T290T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 316383 chr3 138375044 138375044 C T rs375226737 PIK3CB Synonymous SNV A517A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 316384 chr3 138669402 138669402 C T rs144430829 FOXL2NB Synonymous SNV H172H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.63 316385 chr3 141274727 141274727 G A rs34238772 RASA2 Synonymous SNV P219P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.61 316386 chr2 198953588 198953588 A T rs142389942 PLCL1 Nonsynonymous SNV I908F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 316387 chr3 14987243 14987243 G A rs55635934 FGD5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.346 316388 chr12 85515557 85515557 G A LRRIQ1 Nonsynonymous SNV E1154K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 316389 chr12 88457774 88457774 T C rs774510171 CEP290 Nonsynonymous SNV D2085G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 316390 chr2 207619778 207619778 C T rs376039797 MDH1B Nonsynonymous SNV E191K 0 0.003 0 0 0 1 0 0 0 0 0 0 2.698 316391 chr2 218940318 218940318 C G rs760124126 RUFY4 Nonsynonymous SNV S368C 0.002 0 0 0 2 0 0 0 0 0 0 0 14.16 316392 chr3 172525566 172525566 A G rs369446085 ECT2 Nonsynonymous SNV H691R 0 0 0.007 0 0 0 0 2 0 0 0 0 8.034 316393 chr2 219516632 219516632 G A ZNF142 Synonymous SNV P224P 0.002 0 0 0 2 0 0 0 0 0 0 0 17.34 316394 chr3 179526093 179526093 A G PEX5L Synonymous SNV D303D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.556 316395 chr3 180379787 180379787 G A rs766631443 CCDC39 Synonymous SNV C73C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.701 316396 chr2 220040314 220040314 G A rs200052471 CNPPD1 Nonsynonymous SNV R87W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 316397 chr3 183474427 183474427 T C rs765686107 YEATS2 Nonsynonymous SNV I501T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 316398 chr2 219920255 219920255 C A rs752484924 IHH Nonsynonymous SNV V304L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 24.9 316399 chr2 220370729 220370729 G T rs541265208 GMPPA Nonsynonymous SNV G310W 0.001 0 0 1 1 0 0.003 0 0 0 0 0 33 316400 chr12 120984354 120984354 - GCA rs768143625 RNF10 S104_K105insS 0.001 0 0 0 1 0 0 0 0 0 0 0 316401 chr3 187898205 187898205 T C FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 5.631 316402 chr3 193332587 193332604 TTCACGAAGCATTTATCA - rs1064797301 OPA1 R38_S43del 0 0 0.003 0 0 0 0 1 0 0 0 0 316403 chr12 123351904 123351904 C T rs201917286 VPS37B Nonsynonymous SNV R206H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 316404 chr12 123344351 123344351 G A rs139326354 HIP1R Synonymous SNV S813S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 316405 chr2 234238158 234238158 C G rs774169535 SAG Nonsynonymous SNV P223R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 316406 chr12 124171453 124171453 A G rs139927033 TCTN2 Nonsynonymous SNV N211S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 316407 chr12 124401270 124401270 G A rs765452968 DNAH10 Synonymous SNV V3545V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.685 316408 chr2 234710939 234710939 C T rs752017646 MROH2A Synonymous SNV S562S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 316409 chr3 28373440 28373441 CT - rs909617194 AZI2 S218Yfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 316410 chr2 238233443 238233443 C T rs568632361 COL6A3 Nonsynonymous SNV G2563R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.68 316411 chr3 32860162 32860162 A G rs750081397 TRIM71 Nonsynonymous SNV H197R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.249 316412 chr3 38417647 38417647 C T rs572441504 XYLB Synonymous SNV N211N 0 0 0.007 0 0 0 0 2 0 0 0 0 10.22 316413 chr13 23910793 23910793 C A rs760023825 SACS Nonsynonymous SNV D2261Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.5 316414 chr2 241872675 241872675 G A rs555191258 CROCC2 Nonsynonymous SNV R460Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.289 316415 chr13 24860378 24860378 C T rs138283435 SPATA13 Synonymous SNV C73C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.97 316416 chr3 42906592 42906592 G A rs140255308 ACKR2 Nonsynonymous SNV G200S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.073 316417 chr2 27455433 27455433 T C CAD Synonymous SNV Y858Y 0.003 0 0 0 3 0 0 0 0 0 0 0 0.002 316418 chr3 44492849 44492849 A T rs141666242 ZNF445 Synonymous SNV P185P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.996 316419 chr2 27801754 27801754 C T C2orf16 Nonsynonymous SNV T772I 0.003 0 0 0 3 0 0 0 0 0 0 0 2.433 316420 chr3 44684703 44684703 T C rs150554547 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV I481T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.391 316421 chr2 28788205 28788205 G A rs755710557 PLB1 Nonsynonymous SNV R433Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 316422 chr2 31570393 31570393 C T rs45619033 XDH Nonsynonymous SNV V1091I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 316423 chr3 47543162 47543162 G A rs201705102 ELP6 Nonsynonymous SNV A168V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 316424 chr3 47618507 47618507 T C rs555156953 CSPG5 Nonsynonymous SNV I199V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 316425 chr3 47960214 47960214 G A rs76333690 MAP4 Nonsynonymous SNV T216M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.31 316426 chr2 37455773 37455773 T C rs765343808 CEBPZ Nonsynonymous SNV Y188C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 316427 chr13 49073874 49073874 A G RCBTB2 Synonymous SNV L149L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.943 316428 chr3 48698237 48698237 C G rs753184369 CELSR3 Nonsynonymous SNV E611Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 316429 chr3 48719191 48719191 G A rs760958230 NCKIPSD Synonymous SNV S207S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 316430 chr13 52971629 52971629 C T rs751555682 THSD1 Synonymous SNV E253E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.971 316431 chr2 43906038 43906038 C A PLEKHH2 Nonsynonymous SNV R54S 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 316432 chr3 52011885 52011885 A G rs771379326 ABHD14A, ABHD14A-ACY1 0 0 0.003 0 0 0 0 1 0 0 0 0 24 316433 chr2 47656968 47656968 C T MSH2 Synonymous SNV N388N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.95 316434 chr2 54855242 54855242 A G rs146498804 SPTBN1 Synonymous SNV V538V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.666 316435 chr13 99099004 99099004 G A rs369210249 FARP1 Nonsynonymous SNV V997M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 316436 chr2 55747027 55747027 G C CFAP36 Nonsynonymous SNV L30F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 316437 chr13 103330658 103330658 G A rs368359506 TPP2 Nonsynonymous SNV V1248I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.64 316438 chr2 61415589 61415589 A G rs370358517 USP34 Nonsynonymous SNV I3430T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 316439 chr3 56809050 56809050 T C rs1007733183 ARHGEF3 Nonsynonymous SNV Q31R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 316440 chr3 57130531 57130531 C T rs1047237349 IL17RD Nonsynonymous SNV E704K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 316441 chr3 57280217 57280217 G T rs749610125 APPL1 Nonsynonymous SNV L196F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 316442 chr3 58156327 58156327 C T rs942330306 FLNB Synonymous SNV V2525V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.77 316443 chr2 71046553 71046553 G C CLEC4F Nonsynonymous SNV P68A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 316444 chr3 63466537 63466537 C T rs758510661 SYNPR Synonymous SNV C18C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 316445 chr2 71740383 71740383 C T DYSF Synonymous SNV S157S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 316446 chr2 71789052 71789052 G A rs185891286 DYSF Nonsynonymous SNV R764H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 22.6 316447 chr2 74043271 74043271 G A rs982633903 C2orf78 Nonsynonymous SNV G641R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 316448 chr2 75081574 75081574 A G HK2 Nonsynonymous SNV D73G 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 316449 chr13 113979891 113979891 C T rs750325892 GRTP1 Nonsynonymous SNV G336S 0.002 0 0 0 2 0 0 0 0 0 0 0 3.796 316450 chr4 100570656 100570656 T A C4orf54 Nonsynonymous SNV E1717V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 316451 chr4 106164764 106164764 G A TET2 Nonsynonymous SNV C1211Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 316452 chr14 21238437 21238437 G A rs142330098 EDDM3B Nonsynonymous SNV R43Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.486 316453 chr2 96940792 96940792 G A rs61753580 SNRNP200 Synonymous SNV S2123S 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.2 316454 chr14 21465025 21465025 G A rs367596658 METTL17 Nonsynonymous SNV G474S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 316455 chr2 96810605 96810605 G A DUSP2 Synonymous SNV F135F 0.002 0 0 0 2 0 0 0 0 0 0 0 9.814 316456 chr2 95952296 95952296 G A rs765121657 PROM2 Nonsynonymous SNV V673I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.44 316457 chr14 21526363 21526363 C T rs373590322 RNASE8 Synonymous SNV S104S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 316458 chr4 113539100 113539100 C T rs374380192 ZGRF1 Nonsynonymous SNV E700K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 316459 chr3 10183605 10183605 C T rs35460768 VHL Nonsynonymous SNV P25L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.9 316460 chr3 10382201 10382201 G A rs868865508 ATP2B2 Synonymous SNV I990I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 316461 chr3 108287031 108287031 C T rs745990599 CIP2A Nonsynonymous SNV R415K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 316462 chr3 111564781 111564781 C T rs753993588 PHLDB2 Synonymous SNV F22F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 316463 chr14 24884098 24884098 C G NYNRIN Nonsynonymous SNV P1048R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.993 316464 chr4 141214442 141214442 G A rs182309255 SCOC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.941 316465 chr3 120169553 120169553 G A rs776108857 FSTL1 Nonsynonymous SNV A14V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 316466 chr3 120363260 120363260 A G HGD Nonsynonymous SNV F227S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely pathogenic 28.4 316467 chr3 121151765 121151765 C T POLQ Synonymous SNV Q2553Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.96 316468 chr14 51237669 51237669 C T rs768109226 NIN Nonsynonymous SNV R387Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 316469 chr4 164247667 164247667 C T NPY1R Nonsynonymous SNV V14I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 316470 chr3 1262486 1262486 G A rs149735803 CNTN6 Synonymous SNV S57S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.58 316471 chr4 169377271 169377271 T C rs190048898 DDX60L Synonymous SNV L252L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 316472 chr4 17616339 17616339 C G rs375191348 MED28 Nonsynonymous SNV P21R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 316473 chr4 17640964 17640964 G T FAM184B Nonsynonymous SNV Q859K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 316474 chr14 61747594 61747594 G C rs137950125 TMEM30B Nonsynonymous SNV P91R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 316475 chr3 129156667 129156667 A G MBD4 Synonymous SNV T77T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.538 316476 chr3 129233317 129233317 C G rs778888913 IFT122 Nonsynonymous SNV L915V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 29 316477 chr14 64469829 64469829 G A rs117647282 SYNE2 Nonsynonymous SNV R1393Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.008 316478 chr14 64610641 64610641 G A rs773752983 SYNE2 Nonsynonymous SNV R5153H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 316479 chr14 65239324 65239324 G A rs553755523 SPTB Nonsynonymous SNV R1843W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 316480 chr3 13671402 13671402 C T rs41283999 FBLN2 Synonymous SNV C928C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.6 316481 chr4 2306353 2306353 C T rs765213994 ZFYVE28 Nonsynonymous SNV D542N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 316482 chr3 137893490 137893490 G C rs760003643 DBR1 Nonsynonymous SNV R50G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 316483 chr4 24801477 24801477 G T rs772959611 SOD3 Nonsynonymous SNV A112S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 316484 chr14 74975369 74975369 C G rs773026165 LTBP2 Nonsynonymous SNV G1197A 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 316485 chr3 141205963 141205963 C T rs376313232 RASA2 Nonsynonymous SNV S13F 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 5.54 316486 chr3 14200137 14200137 G A rs369928352 XPC Nonsynonymous SNV R223C 0 0.003 0 0 0 1 0 0 0 0 0 0 25 316487 chr4 31144334 31144334 T C rs764975517 PCDH7 Nonsynonymous SNV S1211P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 316488 chr14 77735579 77735579 C T rs144196475 NGB Synonymous SNV E60E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.08 316489 chr3 149686267 149686267 G C rs757043584 PFN2 Nonsynonymous SNV A68G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 316490 chr3 148614436 148614436 G A CPA3 Nonsynonymous SNV R399K 0.002 0 0 1 2 0 0.003 0 0 0 0 0 9.686 316491 chr3 15298310 15298310 C T rs202042505 SH3BP5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 316492 chr14 88429791 88429791 T A GALC Nonsynonymous SNV K343N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 316493 chr14 93652787 93652787 C T rs189524704 TMEM251 Nonsynonymous SNV T88I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 316494 chr3 169654201 169654201 A G rs781724031 SAMD7 Synonymous SNV G372G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.388 316495 chr3 169890486 169890486 T C rs371775775 PHC3 Synonymous SNV A53A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.686 316496 chr3 169644784 169644784 C T SAMD7 Nonsynonymous SNV T245M 0.003 0 0 0 3 0 0 0 0 0 0 0 9.777 316497 chr4 49032978 49032978 G T CWH43 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 316498 chr3 182871645 182871645 G A rs570150710 LAMP3 Nonsynonymous SNV T195M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 316499 chr3 169578364 169578364 C A LRRC31 Nonsynonymous SNV D158Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 316500 chr3 183755834 183755834 C T HTR3D Nonsynonymous SNV P56L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 316501 chr3 184100205 184100205 G A rs147593063 CHRD Nonsynonymous SNV R243Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 316502 chr14 100847628 100847628 C T WDR25 Nonsynonymous SNV P123S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 316503 chr14 102963323 102963323 G T rs201704673 TECPR2 Nonsynonymous SNV G1266V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.9 316504 chr14 103941528 103941528 A G MARK3 Nonsynonymous SNV K409R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.94 316505 chr4 71628360 71628360 C G rs375178574 RUFY3 Synonymous SNV L101L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.867 316506 chr14 105617992 105617992 G A rs200420004 JAG2 Nonsynonymous SNV S375L 0.001 0 0 0 1 0 0 0 0 0 0 0 22 316507 chr4 79176453 79176453 G A rs183328334 FRAS1 Nonsynonymous SNV R176Q 0 0 0.003 2 0 0 0.005 1 0 0 0 0 Uncertain significance 0.861 316508 chr3 19975107 19975107 - CA EFHB Frameshift insertion G135Vfs*21 0.001 0 0 0 1 0 0 0 0 0 0 0 316509 chr15 34647266 34647266 C T rs774948633 NUTM1 Synonymous SNV S459S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 316510 chr3 196529982 196529982 A C PAK2 Nonsynonymous SNV K128T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.59 316511 chr4 84391410 84391410 G A rs150207999 ABRAXAS1 Nonsynonymous SNV T32I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 316512 chr3 36874106 36874106 C T rs372110213 TRANK1 Nonsynonymous SNV R2279H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 316513 chr4 8616191 8616193 ACA - rs766772503 CPZ N480del 0 0 0.003 0 0 0 0 1 0 0 0 0 316514 chr15 41859604 41859604 C T rs139608785 TYRO3 Nonsynonymous SNV P232L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 316515 chr15 41107936 41107936 A T PPP1R14D Nonsynonymous SNV S132R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 316516 chr4 90856461 90856461 G A rs966995976 MMRN1 Nonsynonymous SNV E544K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.615 316517 chr15 43670091 43670091 A G rs758764950 TUBGCP4 Nonsynonymous SNV K144R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 316518 chr3 39156098 39156098 A G rs760330430 TTC21A Nonsynonymous SNV Q153R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 316519 chr15 45392277 45392277 C T rs76343591 DUOX2 Nonsynonymous SNV C1052Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 316520 chr5 111755540 111755540 A G EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 9.147 316521 chr3 42251586 42251586 - GGAGGA TRAK1 E624_G625insEE 0.001 0 0 0 1 0 0 0 0 0 0 0 316522 chr15 45457064 45457064 C T rs554036237 DUOX1 Nonsynonymous SNV R1541W 0.002 0 0 0 2 0 0 0 0 0 0 0 26.3 316523 chr5 10261683 10261683 C T CCT5 Synonymous SNV I280I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.92 316524 chr5 10426510 10426510 A G rs778124400 MARCHF6 Synonymous SNV A689A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 316525 chr5 112343736 112343736 G C DCP2 Nonsynonymous SNV L348F 0 0 0.007 0 0 0 0 2 0 0 0 0 15.44 316526 chr3 45978012 45978012 G A rs113318190 FYCO1 Nonsynonymous SNV T1323M 0.002 0 0 0 2 0 0 0 0 0 0 0 27.2 316527 chr3 39942396 39942396 A G rs765598624 MYRIP Nonsynonymous SNV K30R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 316528 chr5 1294365 1294365 G A rs762440833 TERT Synonymous SNV V212V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.577 316529 chr15 45444488 45444488 C T rs751566677 DUOX1 Synonymous SNV Y1066Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.27 316530 chr5 131977997 131977997 G A rs587782339 RAD50 Nonsynonymous SNV D1294N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 316531 chr3 42750501 42750501 G C rs746348067 CCDC13 Nonsynonymous SNV L707V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24.8 316532 chr5 132535307 132535307 C T rs199510505 FSTL4 Nonsynonymous SNV R670Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 316533 chr3 44489660 44489660 C T rs188162953 ZNF445 Synonymous SNV A489A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.92 316534 chr3 47098439 47098439 A G SETD2 Nonsynonymous SNV S2235P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.05 316535 chr3 47449851 47449851 A G rs75578696 PTPN23 Nonsynonymous SNV M275V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 316536 chr3 44685500 44685500 T G rs140904465 ZNF197, ZNF660-ZNF197 Nonsynonymous SNV C747G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.7 316537 chr15 58902568 58902568 A T ADAM10 Nonsynonymous SNV D620E 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 316538 chr3 47957524 47957524 T G rs778975314 MAP4 Nonsynonymous SNV Q598P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.699 316539 chr5 13735418 13735418 G T rs576096758 DNAH5 Nonsynonymous SNV S3861R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 316540 chr3 47957726 47957726 T C rs202125937 MAP4 Nonsynonymous SNV I531V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 316541 chr3 48040241 48040241 A T rs200121432 MAP4 Nonsynonymous SNV V37D 0.002 0 0 0 2 0 0 0 0 0 0 0 27.5 316542 chr5 127419946 127419946 - GCGGCGGCA rs775523273 SLC12A2 A107_G108insAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 316543 chr3 48563079 48563079 G A rs139739913 PFKFB4 Synonymous SNV Y330Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.57 316544 chr3 48626832 48626832 C T rs148411473 COL7A1 Nonsynonymous SNV E748K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 19.86 316545 chr3 48694562 48694562 C T rs752961939 CELSR3 Nonsynonymous SNV G1323D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 316546 chr5 131940624 131940624 G A rs558302979 RAD50 Nonsynonymous SNV R884H 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 316547 chr5 139266961 139266961 C T rs374166415 NRG2 Nonsynonymous SNV R279H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 316548 chr3 49679866 49679866 C T rs775241611 BSN Nonsynonymous SNV R267W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.64 316549 chr3 49693287 49693287 C T BSN Nonsynonymous SNV R2100C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 316550 chr5 137781196 137781196 C T rs111927109 REEP2 Nonsynonymous SNV P202L 0 0 0.01 0 0 0 0 3 0 0 0 0 Conflicting interpretations of pathogenicity 4.591 316551 chr3 48222215 48222215 C T rs762890600 CDC25A Nonsynonymous SNV R182Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.1 316552 chr3 48423529 48423529 A G rs377678691 FBXW12 Nonsynonymous SNV S347G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 316553 chr15 69548532 69548532 A G rs188013301 GLCE Synonymous SNV P129P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.766 316554 chr3 49845354 49845354 G A rs368889184 UBA7 Stop gain R844X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 316555 chr5 140023424 140023425 TG - TMCO6 V87Gfs*9 0 0 0.003 0 0 0 0 1 0 0 0 0 316556 chr3 53213753 53213753 C T rs782352450 PRKCD Synonymous SNV A111A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.62 316557 chr15 65628197 65628197 C G rs369658817 IGDCC3 Synonymous SNV L169L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.374 316558 chr5 140746239 140746239 G A rs202102428 PCDHGA5 Nonsynonymous SNV S781N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 316559 chr5 141249090 141249090 A G rs777391269 PCDH1 Nonsynonymous SNV V27A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.151 316560 chr5 141335896 141335896 T C PCDH12 Synonymous SNV L507L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 316561 chr5 145379735 145379735 G A rs918464477 SH3RF2 Nonsynonymous SNV G165R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 316562 chr5 148691681 148691681 C T rs376857041 AFAP1L1 Stop gain R279X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 316563 chr3 58303614 58303618 ATCTC - HTD2 I92Sfs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 316564 chr15 85400802 85400802 C T rs565789183 ALPK3 Nonsynonymous SNV R945W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 316565 chr3 56649219 56649219 C G rs201097901 CCDC66 Nonsynonymous SNV Q511E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.3 316566 chr3 77612388 77612388 C T rs781113066 ROBO2 Synonymous SNV V530V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 316567 chr15 83499639 83499639 C A WHAMM Nonsynonymous SNV P644T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.159 316568 chr5 156769991 156769991 C T rs770748395 FNDC9 Nonsynonymous SNV R185H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 316569 chr5 160029695 160029695 G A rs372413354 ATP10B Synonymous SNV S1084S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 316570 chr3 97673284 97673284 G A rs757011364 RIOX2 Nonsynonymous SNV A246V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.54 316571 chr4 103592505 103592505 C T MANBA Nonsynonymous SNV R388Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 316572 chr4 10509609 10509609 C A rs781050849 CLNK Stop gain E320X 0.002 0 0 0 2 0 0 0 0 0 0 0 37 316573 chr4 107845709 107845709 A C DKK2 Nonsynonymous SNV H174Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 316574 chr4 108940805 108940805 G A HADH Nonsynonymous SNV V177I 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 316575 chr4 110914428 110914428 G A rs760507781 EGF Synonymous SNV E797E 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.155 316576 chr5 174151979 174151979 C T rs765421666 MSX2 Nonsynonymous SNV S106L 0 0 0.007 0 0 0 0 2 0 0 1 0 25.2 316577 chr4 106569729 106569729 G A rs771108496 ARHGEF38 Nonsynonymous SNV E300K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 316578 chr5 177421252 177421252 G A rs764154376 PROP1 Nonsynonymous SNV P66L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.021 316579 chr4 111543528 111543528 G T PITX2 Nonsynonymous SNV P30H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.94 316580 chr4 111543575 111543575 T C rs747777069 PITX2 Synonymous SNV A14A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.58 316581 chr4 140811064 140811087 TGCTGCTGCTGCTGCTGCTGCTGC - MAML3 Q503_Q510del 0.001 0 0 0 1 0 0 0 0 0 0 0 316582 chr5 37816043 37816043 G A GDNF Nonsynonymous SNV R116W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316583 chr4 148985599 148985599 C T rs141244949 ARHGAP10 Nonsynonymous SNV P738L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 316584 chr4 148591832 148591832 C G rs200390614 PRMT9 Nonsynonymous SNV S156T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 316585 chr16 341267 341267 G A rs915482424 AXIN1 Synonymous SNV R739R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.376 316586 chr16 723104 723104 C T RHOT2 Synonymous SNV T517T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 316587 chr4 155411209 155411209 G T rs528454127 DCHS2 Synonymous SNV G433G 0.003 0 0 0 3 0 0 0 0 0 0 0 0.256 316588 chr4 153691690 153691690 A G rs769871398 TIGD4 Nonsynonymous SNV V156A 0.003 0 0 0 3 0 0 0 0 0 0 0 0.005 316589 chr16 920823 920823 C T rs201734228 LMF1 Nonsynonymous SNV V271M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 316590 chr5 5303764 5303764 T G rs199767160 ADAMTS16 Nonsynonymous SNV L1024R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 316591 chr4 154600938 154600938 G A rs958462353 LOC100419170 0.001 0 0 0 1 0 0 0 0 0 0 0 1.465 316592 chr4 154669846 154669846 G A rs116158953 RNF175 Nonsynonymous SNV A66V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 316593 chr16 1545624 1545624 G A TELO2 Nonsynonymous SNV G205S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.75 316594 chr4 144127354 144127354 A G rs774511377 USP38 Nonsynonymous SNV I460V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22 316595 chr4 15638301 15638301 T C rs746346801 FBXL5 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 316596 chr16 1842197 1842197 G T IGFALS Synonymous SNV G112G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.129 316597 chr4 155505484 155505484 T G rs768839775 FGA Nonsynonymous SNV N798T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 316598 chr4 149181238 149181238 A C NR3C2 Nonsynonymous SNV S597A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 20.8 316599 chr4 15964740 15964740 G A FGFBP2 Nonsynonymous SNV P5S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.06 316600 chr16 3073271 3073271 G T rs201654253 HCFC1R1 Nonsynonymous SNV P63T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.8 316601 chr4 165878728 165878728 A C rs560451488 FAM218A 0.002 0 0 0 2 0 0 0 0 0 0 0 5.531 316602 chr16 3614342 3614342 G A rs144106088 NLRC3 Nonsynonymous SNV P199L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 316603 chr16 2140762 2140762 C G rs151044657 PKD1 Nonsynonymous SNV K4016N 0.001 0 0 0 1 0 0 0 0 0 0 0 25 316604 chr16 2282806 2282806 G A rs139438270 E4F1 Synonymous SNV S260S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 316605 chr4 1739363 1739363 C T rs746274656 TACC3 Synonymous SNV G625G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.3 316606 chr16 11375013 11375013 C T rs150259080 PRM1 Nonsynonymous SNV R28Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 316607 chr5 79950697 79950705 GCTGCAGCG - rs758595508 MSH3 A60_A62del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 316608 chr4 2097647 2097647 C T rs571169469 POLN Nonsynonymous SNV V666M 0.002 0 0 0 2 0 0 0 0 0 0 0 1.538 316609 chr4 24577978 24577978 T G DHX15 Nonsynonymous SNV K132T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 316610 chr16 7629800 7629800 A G rs769491451 RBFOX1 Nonsynonymous SNV T118A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 316611 chr16 9197069 9197069 C T C16orf72 Nonsynonymous SNV S179F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 316612 chr5 94927224 94927224 G A rs375563497 ARSK Nonsynonymous SNV E331K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316613 chr5 95728989 95728989 C T rs750490157 PCSK1 Nonsynonymous SNV E660K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 316614 chr16 23546670 23546670 C T rs372147741 EARS2 Nonsynonymous SNV R166Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 316615 chr4 39000322 39000322 G A rs140426497 TMEM156 Nonsynonymous SNV S99L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 316616 chr16 30409335 30409335 G A rs201343712 ZNF48 Nonsynonymous SNV R132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 316617 chr4 38799443 38799443 C T rs375985007 TLR1 Nonsynonymous SNV R337H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.097 316618 chr16 30736377 30736377 C G SRCAP Nonsynonymous SNV P1878A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 316619 chr16 30783479 30783479 G A RNF40 Nonsynonymous SNV E833K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 316620 chr4 40829182 40829182 T C APBB2 Nonsynonymous SNV R18G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 316621 chr16 27689057 27689057 G A KIAA0556 Nonsynonymous SNV R183K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 316622 chr16 31226231 31226231 G T TRIM72 Nonsynonymous SNV A58S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 316623 chr6 101248185 101248185 C T rs767632869 ASCC3 Nonsynonymous SNV R373Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 316624 chr6 118024808 118024808 C T rs142549647 NUS1 Synonymous SNV F244F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.69 316625 chr6 109769958 109769958 C T rs772460084 MICAL1 Synonymous SNV V461V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.97 316626 chr16 50347913 50347913 C T ADCY7 Synonymous SNV T932T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 316627 chr4 57883281 57883281 A C POLR2B Synonymous SNV A601A 0.003 0 0 0 3 0 0 0 0 0 0 0 7.464 316628 chr4 4418966 4418966 C T rs767334264 NSG1 Nonsynonymous SNV T121I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.77 316629 chr6 129636723 129636723 C G LAMA2 Nonsynonymous SNV H1220D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 316630 chr16 31092947 31092947 C T ZNF646 Nonsynonymous SNV R1768C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 316631 chr16 48167651 48167651 C T rs374634800 ABCC12 Nonsynonymous SNV V359M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 316632 chr16 58537807 58537807 C T rs375101369 NDRG4 Nonsynonymous SNV H61Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 316633 chr6 131996281 131996281 A G rs747602863 ENPP3 Nonsynonymous SNV E275G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 316634 chr4 660341 660341 G A rs897030115 PDE6B Nonsynonymous SNV A379T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 316635 chr4 76813080 76813080 C T rs61757739 PPEF2 Nonsynonymous SNV R36H 0.002 0 0 0 2 0 0 0 0 0 0 0 34 316636 chr4 79334158 79334158 G A FRAS1 Synonymous SNV E1448E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.896 316637 chr6 155578002 155578002 G T TIAM2 Nonsynonymous SNV G543V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.174 316638 chr6 149342593 149342593 G A rs141035429 UST Nonsynonymous SNV V305M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316639 chr4 85752724 85752724 G A rs758187730 WDFY3 Nonsynonymous SNV A204V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 316640 chr4 8620243 8620243 G A rs751421093 CPZ Nonsynonymous SNV D520N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.7 316641 chr4 959838 959838 C T rs145291285 DGKQ Nonsynonymous SNV R486Q 0.002 0 0 0 2 0 0 0 0 0 0 0 34 316642 chr16 77327067 77327067 G C rs1023239338 ADAMTS18 Nonsynonymous SNV T860S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 316643 chr4 86916617 86916617 C T ARHGAP24 Nonsynonymous SNV P411S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.066 316644 chr4 85525454 85525454 C T rs779270820 CDS1 Nonsynonymous SNV P59L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 23.5 316645 chr16 77401554 77401554 C T rs200404040 ADAMTS18 Nonsynonymous SNV E188K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.11 316646 chr6 24423901 24423901 G A rs769012163 MRS2 Synonymous SNV R387R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.829 316647 chr5 10681074 10681074 A G DAP Synonymous SNV T120T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.98 316648 chr5 1078050 1078050 G A rs767978276 SLC12A7 Synonymous SNV I509I 0.002 0 0 0 2 0 0 0 0 0 0 0 14.3 316649 chr5 1079582 1079582 C T rs752930961 SLC12A7 Nonsynonymous SNV D443N 0.002 0 0 0 2 0 0 0 0 0 0 0 26.5 316650 chr6 166401036 166401036 C T rs1038137691 LINC00473 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 316651 chr4 90169776 90169776 C A rs139967669 GPRIN3 Nonsynonymous SNV A496S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.217 316652 chr4 96106258 96106258 G A rs1046816844 UNC5C Synonymous SNV R742R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 316653 chr5 111601936 111601936 T A EPB41L4A Nonsynonymous SNV I143F 0.002 0 0 0 2 0 0 0 0 0 0 0 24 316654 chr4 89383475 89383475 A G HERC5 Nonsynonymous SNV E219G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.8 316655 chr4 90168978 90168978 G A GPRIN3 Nonsynonymous SNV R762C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 34 316656 chr4 90169139 90169139 G A rs551229625 GPRIN3 Nonsynonymous SNV A708V 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.7 316657 chr5 121487874 121487874 T C rs767059635 ZNF474 Synonymous SNV P63P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 316658 chr4 96052373 96052373 T A rs886546783 BMPR1B Synonymous SNV I262I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.58 316659 chr6 28213614 28213635 CCTGCCCTCCTGTTCACCAGCT - rs775361297 ZKSCAN4 E144Dfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 316660 chr5 126993262 126993262 G A rs61743797 CTXN3 Nonsynonymous SNV E17K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 316661 chr5 125696087 125696087 C T rs928563703 GRAMD2B Nonsynonymous SNV L22F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.473 316662 chr5 112200429 112200429 C T rs961917242 SRP19 Nonsynonymous SNV R77C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 316663 chr6 37426441 37426441 C T rs547318914 CMTR1 Synonymous SNV C277C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 316664 chr5 128448562 128448562 C T rs185456076 ISOC1 Synonymous SNV T255T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.74 316665 chr6 39869170 39869170 C T rs374406321 DAAM2 Synonymous SNV F968F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.27 316666 chr5 13876888 13876888 C T rs61747516 DNAH5 Nonsynonymous SNV V1101M 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 24.9 316667 chr5 13882858 13882858 T C rs16902880 DNAH5 Nonsynonymous SNV M1081V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.002 316668 chr5 13883171 13883171 T C rs16902886 DNAH5 Nonsynonymous SNV S1006G 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 0.029 316669 chr16 89598458 89598458 C T rs762445020 SPG7 Synonymous SNV F378F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.82 316670 chr5 140048935 140048935 C T rs772564537 WDR55 Nonsynonymous SNV P283L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 316671 chr5 13886133 13886133 C T rs76229167 DNAH5 Nonsynonymous SNV E895K 0.002 0 0.003 0 2 0 0 1 0 0 0 0 Benign/Likely benign 4.525 316672 chr5 140501585 140501585 A G PCDHB4 Nonsynonymous SNV K2R 0.001 0 0 0 1 0 0 0 0 0 0 0 23 316673 chr5 138210072 138210072 C T rs1038619935 LRRTM2 Nonsynonymous SNV D60N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.1 316674 chr5 138260305 138260305 G A rs1010063276 CTNNA1 Synonymous SNV R68R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.53 316675 chr5 138658499 138658499 A C rs139589527 MATR3 Nonsynonymous SNV E376A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.1 316676 chr6 39158795 39158795 C T rs773369117 KCNK5 Synonymous SNV A457A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.259 316677 chr5 140754535 140754535 T G rs773014837 PCDHGA6 Nonsynonymous SNV N295K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 316678 chr5 140011683 140011683 G C rs754968319 CD14 Nonsynonymous SNV P296A 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 316679 chr5 146795308 146795308 C T rs116679689 DPYSL3 Nonsynonymous SNV V262I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 316680 chr6 56499706 56499706 G A rs12661453 DST Synonymous SNV L541L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.204 316681 chr6 64498113 64498113 G A rs562496683 EYS Synonymous SNV I2536I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.34 316682 chr5 148206523 148206523 C T rs773380962 ADRB2 Synonymous SNV I43I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 316683 chr17 7297147 7297147 G A rs776033551 PLSCR3 Nonsynonymous SNV P6S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 316684 chr6 49931787 49931787 C T DEFB114 Nonsynonymous SNV C11Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 316685 chr6 51656157 51656157 C A rs747322128 PKHD1 Nonsynonymous SNV V2773L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 316686 chr5 149784256 149784256 G A rs780614932 CD74 Synonymous SNV D183D 0.003 0 0 0 3 0 0 0 0 0 0 0 12.02 316687 chr17 5124590 5124590 C T rs372732996 SCIMP Synonymous SNV K60K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 316688 chr17 8132666 8132666 A G CTC1 Nonsynonymous SNV L1037P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 316689 chr17 8219455 8219455 A C ARHGEF15 Nonsynonymous SNV M565L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 316690 chr17 8108540 8108540 G C AURKB Nonsynonymous SNV I117M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 316691 chr6 88138388 88138388 C T rs151002888 CFAP206 Synonymous SNV D335D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 316692 chr6 71238103 71238103 G A rs770834956 FAM135A Synonymous SNV E1012E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.967 316693 chr5 156590234 156590234 C T rs778940684 FAM71B Nonsynonymous SNV A348T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 316694 chr5 149406329 149406329 G T HMGXB3 Nonsynonymous SNV K341N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 316695 chr7 100466182 100466182 G A rs749039310 TRIP6 Synonymous SNV P143P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.93 316696 chr5 167957329 167957329 A T FBLL1 Nonsynonymous SNV I274F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 316697 chr6 84895072 84895072 T C rs753669099 CEP162 Nonsynonymous SNV K423R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 316698 chr5 158250272 158250272 A G rs759764066 EBF1 Synonymous SNV D207D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.022 316699 chr5 154299611 154299611 C G GEMIN5 Synonymous SNV G504G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.96 316700 chr6 93967964 93967964 G A EPHA7 Nonsynonymous SNV P650S 0 0 0.007 0 0 0 0 2 0 0 0 0 25.8 316701 chr7 100401183 100401183 G A rs139196073 EPHB4 Nonsynonymous SNV A955V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 316702 chr17 17030156 17030156 G A rs143894898 MPRIP Synonymous SNV E168E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.784 316703 chr5 179143220 179143220 C T rs769363661 CANX Nonsynonymous SNV P171L 0.002 0 0 0 2 0 0 0 0 0 0 0 32 316704 chr5 176025163 176025163 T C rs149638200 GPRIN1 Nonsynonymous SNV K558R 0.002 0 0 1 2 0 0.003 0 0 0 0 0 17.45 316705 chr17 28537592 28537592 G A rs201228840 SLC6A4 Nonsynonymous SNV R464W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.09 316706 chr5 182191 182191 C T rs148720313 PLEKHG4B Nonsynonymous SNV T1546I 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 316707 chr17 32953188 32953188 C T rs372634022 TMEM132E Nonsynonymous SNV P37L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 316708 chr17 32961993 32961993 G A TMEM132E Nonsynonymous SNV V622M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 316709 chr7 100684275 100684275 C T rs185698707 MUC17 Nonsynonymous SNV T3193I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.824 316710 chr17 27910524 27910524 C T rs187487955 GIT1 Nonsynonymous SNV A55T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 316711 chr7 102462519 102462519 G T rs370404858 FBXL13 Synonymous SNV I617I 0 0 0.007 0 0 0 0 2 0 0 1 0 10.84 316712 chr5 453863 453863 T C rs62001017 EXOC3 Nonsynonymous SNV M248T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.1 316713 chr5 35793432 35793432 C T SPEF2 Stop gain Q1576X 0.001 0 0 0 1 0 0 0 0 0 0 0 49 316714 chr7 106888938 106888938 G A rs151129529 COG5 Nonsynonymous SNV H596Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.181 316715 chr7 128851478 128851478 G A rs202128173 SMO Synonymous SNV A601A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 316716 chr7 115580929 115580929 C T rs77901105 TFEC Synonymous SNV T173T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 316717 chr7 116199252 116199252 A G rs140936491 CAV1 Nonsynonymous SNV I119V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.13 316718 chr7 120478954 120478954 T G TSPAN12 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 316719 chr7 120780928 120780928 T C CPED1 Synonymous SNV L583L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 316720 chr6 109721267 109721267 A G rs535079747 PPIL6 Synonymous SNV P233P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.275 316721 chr17 56232608 56232608 C T rs780322973 OR4D1 Synonymous SNV L32L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.41 316722 chr5 85915315 85915318 TAGT - rs755183030 COX7C 0.001 0 0 0 1 0 0 0 0 0 0 0 316723 chr5 90368328 90368328 G A rs377173958 ADGRV1 Nonsynonymous SNV V6073M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 316724 chr6 117244345 117244345 C A rs764315657 RFX6 Synonymous SNV R505R 0.002 0 0 0 2 0 0 0 0 0 0 0 19.6 316725 chr6 117639352 117639352 T C rs753178466 ROS1 Nonsynonymous SNV S2002G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 316726 chr6 121642846 121642846 G A TBC1D32 Stop gain Q84X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 316727 chr6 121642847 121642847 A T TBC1D32 Nonsynonymous SNV N83K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.591 316728 chr6 109802500 109802500 C T rs113516976 ZBTB24 Nonsynonymous SNV E244K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 3.197 316729 chr6 122777723 122777723 G A rs988938632 SERINC1 Nonsynonymous SNV R92C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 316730 chr6 125619868 125619868 G A rs371056317 HDDC2 Stop gain R101X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 316731 chr5 98224802 98224802 T A rs144567251 CHD1 Nonsynonymous SNV Y774F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 316732 chr7 29954108 29954108 G A WIPF3 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 316733 chr6 13615606 13615606 C A rs994713089 NOL7 Nonsynonymous SNV P6T 0.003 0 0 0 3 0 0 0 0 0 0 0 24 316734 chr6 137243771 137243771 C A rs778298738 SLC35D3 Nonsynonymous SNV P69T 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 316735 chr7 40118406 40118406 C T rs56028037 CDK13 Synonymous SNV C995C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.69 316736 chr6 139695062 139695062 G A CITED2 Nonsynonymous SNV A7V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 316737 chr6 144806529 144806529 G A UTRN Stop gain W1232X 0.002 0 0 0 2 0 0 0 0 0 0 0 48 316738 chr17 71027781 71027781 C T rs144527380 SLC39A11 Nonsynonymous SNV G74S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 316739 chr7 47851581 47851581 A G rs781337672 PKD1L1 Nonsynonymous SNV V2472A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 316740 chr7 47879091 47879091 C A rs759416849 PKD1L1 Nonsynonymous SNV V1908L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 316741 chr17 74289527 74289527 C T rs781572298 QRICH2 Nonsynonymous SNV M261I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.65 316742 chr7 76866313 76866313 C A CCDC146 Nonsynonymous SNV A69D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 316743 chr17 76472714 76472714 G A rs189793617 DNAH17 Synonymous SNV D2698D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.4 316744 chr6 158613018 158613018 C T GTF2H5 Synonymous SNV A15A 0.002 0 0 0 2 0 0 0 0 0 0 0 13.31 316745 chr6 159655172 159655172 A G rs760008822 FNDC1 Nonsynonymous SNV R1210G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.47 316746 chr17 76420132 76420132 C T rs769326697 DNAH17 Nonsynonymous SNV R4415H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 316747 chr7 75687382 75687382 G A rs111879470 MDH2 Nonsynonymous SNV V32I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.166 316748 chr7 75932038 75932038 G A rs77586767 HSPB1 Synonymous SNV E3E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.62 316749 chr7 91774219 91774219 G A rs199538336 LRRD1 Nonsynonymous SNV R856C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 316750 chr6 165715461 165715461 G A C6orf118 Nonsynonymous SNV A117V 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 316751 chr7 87133728 87133728 C T rs779103120 ABCB1 Nonsynonymous SNV R1225H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 316752 chr7 87183128 87183128 A G rs757122342 ABCB1 Synonymous SNV Y316Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.964 316753 chr7 92760656 92760656 T C rs201068807 SAMD9L Synonymous SNV K1543K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.066 316754 chr17 79512908 79512908 C T rs199924077 FAAP100 Nonsynonymous SNV G725D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 316755 chr7 97823502 97823502 C T rs752404533 LMTK2 Nonsynonymous SNV A1242V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.66 316756 chr7 99057719 99057719 C A rs149159438 ATP5MF, ATP5MF-PTCD1 Synonymous SNV A37A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 316757 chr8 10464465 10464465 G T rs112520779 RP1L1 Synonymous SNV L2381L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.931 316758 chr8 10480171 10480171 A T rs371879954 RP1L1 Nonsynonymous SNV F181I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 316759 chr6 25727387 25727387 A G H2BC1 Nonsynonymous SNV H84R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.133 316760 chr17 80559342 80559342 G A rs756479949 FOXK2 Synonymous SNV P650P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.638 316761 chr6 26285692 26285692 A G H4C8 Synonymous SNV G12G 0.003 0 0 0 3 0 0 0 0 0 0 0 6.878 316762 chr6 26107867 26107867 C T rs375845735 H1-6 Nonsynonymous SNV R152K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 316763 chr17 80714051 80714051 C T rs753916286 TBCD Synonymous SNV D65D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.65 316764 chr6 26107972 26107972 G C rs150570103 H1-6 Nonsynonymous SNV P117R 0 0 0 1 0 0 0.003 0 0 0 0 0 17.9 316765 chr8 110402711 110402711 A G rs200280185 PKHD1L1 Nonsynonymous SNV N243S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.576 316766 chr8 125103775 125103775 A G FER1L6 Nonsynonymous SNV I1501M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 316767 chr6 28254919 28254919 C T rs774890513 PGBD1 Nonsynonymous SNV P206S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.177 316768 chr6 33995988 33995988 C T rs965248335 GRM4 Synonymous SNV A750A 0.003 0 0 0 3 0 0 0 0 0 0 0 15.16 316769 chr6 33632845 33632845 A C ITPR3 Nonsynonymous SNV T422P 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 316770 chr6 35479511 35479511 T C rs762751444 TULP1 Nonsynonymous SNV Y88C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.8 316771 chr6 36099166 36099166 C A MAPK13 Nonsynonymous SNV Q80K 0.003 0 0 0 3 0 0 0 0 0 0 0 13.5 316772 chr8 12957283 12957283 T A DLC1 Nonsynonymous SNV N344Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 316773 chr18 43526693 43526693 C T rs142601828 EPG5 Nonsynonymous SNV R538Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.25 316774 chr6 36652293 36652293 G A CDKN1A Nonsynonymous SNV G139S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 316775 chr8 132999903 132999903 A G rs747146409 EFR3A Synonymous SNV G637G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.945 316776 chr6 36259206 36259206 C T rs141261965 PNPLA1 Synonymous SNV Y10Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.59 316777 chr6 37336913 37336913 G A rs892010519 RNF8 Synonymous SNV Q298Q 0.003 0 0 0 3 0 0 0 0 0 0 0 5.128 316778 chr6 34826271 34826271 G C UHRF1BP1 Nonsynonymous SNV G713A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 316779 chr6 43748538 43748538 C T rs777846438 VEGFA Synonymous SNV S344S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.74 316780 chr6 43592760 43592760 A C rs371544328 GTPBP2 Nonsynonymous SNV C161G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 316781 chr8 144941991 144941991 G A rs370265526 EPPK1 Nonsynonymous SNV R1811W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 316782 chr8 144999935 144999935 G T rs188305538 PLEC Synonymous SNV R1374R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.792 316783 chr6 51923257 51923257 T C PKHD1 Nonsynonymous SNV H459R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 316784 chr18 61156587 61156587 T C rs61761883 SERPINB5 Nonsynonymous SNV I105T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 316785 chr19 841068 841068 C T rs202027527 PRTN3 Synonymous SNV S20S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.061 316786 chr18 64172188 64172188 C A rs60951620 CDH19 Nonsynonymous SNV G727V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 316787 chr6 46849806 46849806 G A rs202152357 ADGRF5 Synonymous SNV G217G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 316788 chr8 36703403 36703403 G A rs780898444 KCNU1 Nonsynonymous SNV R626Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.387 316789 chr8 37702562 37702562 A G rs767517917 BRF2 Nonsynonymous SNV S236P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 316790 chr19 629605 629605 G A rs145312875 POLRMT Nonsynonymous SNV R253W 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 316791 chr6 96053980 96053980 C G rs781038414 MANEA Nonsynonymous SNV T363S 0.003 0 0 0 3 0 0 0 0 0 0 0 24.5 316792 chr6 56480837 56480837 G A DST Synonymous SNV A2476A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.77 316793 chr6 99848448 99848448 G A rs753240475 PNISR Nonsynonymous SNV R778C 0.003 0 0 0 3 0 0 0 0 0 0 0 24.9 316794 chr6 90660181 90660181 C A rs534305159 BACH2 Synonymous SNV S548S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.13 316795 chr8 74893483 74893483 C T rs201367229 TMEM70 Nonsynonymous SNV P137L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 316796 chr19 1065367 1065367 C - ABCA7 K2130Nfs*66 0.001 0 0 0 1 0 0 0 0 0 0 0 316797 chr8 49832600 49832600 G A SNAI2 Synonymous SNV S160S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.432 316798 chr8 95508596 95508596 C T VIRMA Nonsynonymous SNV S1448N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 316799 chr19 3653555 3653555 G C rs758011657 PIP5K1C Synonymous SNV P218P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.146 316800 chr8 90967646 90967646 A G rs104895032 NBN Nonsynonymous SNV L421S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.352 316801 chr9 113563026 113563026 G A rs199476083 MUSK Nonsynonymous SNV V370M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 31 316802 chr19 8150398 8150398 C G FBN3 Synonymous SNV L2312L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.499 316803 chr7 111540506 111540506 A G rs756279575 DOCK4 Synonymous SNV S468S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.85 316804 chr9 131897151 131897151 A G rs751492653 PTPA Nonsynonymous SNV I151V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 316805 chr9 132510978 132510978 G A rs1035069908 PTGES Synonymous SNV G55G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.422 316806 chr7 139717510 139717510 G A rs369309793 TBXAS1 Synonymous SNV T407T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.59 316807 chr7 141895957 141895957 T C rs776013189 MGAM2 Synonymous SNV A1450A 0.002 0 0 0 2 0 0 0 0 0 0 0 3.384 316808 chr7 143826300 143826300 C T rs183164379 OR2A14 Nonsynonymous SNV A32V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.823 316809 chr9 130890820 130890820 G C rs947609970 PTGES2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 316810 chr19 15539054 15539054 G C rs554897536 WIZ Synonymous SNV P306P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 316811 chr7 150699359 150699359 A C rs139526064 NOS3 Synonymous SNV T573T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.663 316812 chr7 154667680 154667680 G T DPP6 Nonsynonymous SNV V543L 0.003 0 0 0 3 0 0 0 0 0 0 0 18.8 316813 chr7 151134982 151134982 G C rs184114935 CRYGN Nonsynonymous SNV R124G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.746 316814 chr7 155301709 155301709 T C rs184800575 CNPY1 Synonymous SNV E8E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.04 316815 chr9 19346906 19346906 G A rs139483502 DENND4C Nonsynonymous SNV R1331H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 316816 chr19 17533148 17533148 T C MVB12A Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.126 316817 chr9 21481272 21481272 C A IFNE Nonsynonymous SNV R141I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.69 316818 chr7 140159717 140159717 A T rs745683076 MKRN1 Nonsynonymous SNV L112M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 316819 chr19 14281644 14281644 A C LOC100507373 0.001 0 0 0 1 0 0 0 0 0 0 0 2.443 316820 chr7 17375328 17375328 T C AHR Nonsynonymous SNV W360R 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 316821 chr19 14705578 14705578 C T CLEC17A Synonymous SNV D123D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.944 316822 chr19 18279695 18279695 C T rs756868198 PIK3R2 Synonymous SNV A656A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 316823 chr19 18679432 18679432 G A rs143551967 KXD1 Synonymous SNV T174T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 316824 chr19 15794309 15794309 C T rs768037263 CYP4F12 Synonymous SNV P218P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.747 316825 chr7 27239232 27239232 G A HOXA13 Synonymous SNV P155P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.67 316826 chr9 5988510 5988510 G C KIAA2026 Nonsynonymous SNV S210C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 316827 chr7 29552281 29552281 C T rs781686136 CHN2 Nonsynonymous SNV T238I 0.003 0 0 0 3 0 0 0 0 0 0 0 25 316828 chr7 27702354 27702354 G T HIBADH Nonsynonymous SNV S18R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.96 316829 chr9 86917199 86917199 A G rs756088103 SLC28A3 Nonsynonymous SNV L147P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 316830 chr9 95797696 95797696 C T rs201485764 FGD3 Nonsynonymous SNV S619L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.529 316831 chr9 33120592 33120592 T C rs761463843 B4GALT1 Nonsynonymous SNV I221V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.542 316832 chr9 35380621 35380621 G A rs138199360 UNC13B Nonsynonymous SNV V335I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 316833 chr9 35548205 35548205 C T rs761344885 RUSC2 Nonsynonymous SNV R563C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 316834 chr7 48045622 48045622 A C rs115042949 SUN3 Nonsynonymous SNV L174R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 25.2 316835 chrX 125954938 125954938 C G rs201843491 PRR32 Nonsynonymous SNV T106R 0 0 0.007 0 0 0 0 2 0 0 1 0 19.39 316836 chrX 13775845 13775845 T C OFD1 Nonsynonymous SNV I453T 0 0 0.007 0 0 0 0 2 0 0 1 0 0.035 316837 chr19 39123320 39123320 T C EIF3K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 316838 chr9 80046318 80046318 G A rs139345882 GNA14 Nonsynonymous SNV T171I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 316839 chr7 65617284 65617284 G A rs2292934 CRCP Synonymous SNV E52E 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.72 316840 chr9 95776331 95776331 C T rs754022748 LOC101927954 0 0 0.003 0 0 0 0 1 0 0 0 0 2.415 316841 chr19 42778403 42778403 A G rs775387226 CIC Nonsynonymous SNV K823R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 316842 chr7 73010282 73010282 C T rs782684257 MLXIPL Synonymous SNV T692T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.65 316843 chr19 38056190 38056193 GTAA - rs531640879 ZNF571 Y380Tfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 316844 chr7 56172118 56172118 G A rs371198317 CHCHD2 Nonsynonymous SNV P34L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 21.7 316845 chrX 105159737 105159737 C T rs192589373 NRK Nonsynonymous SNV P789S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.012 316846 chrX 12734503 12734503 C T rs142025193 FRMPD4 Nonsynonymous SNV A602V 0 0 0.007 0 0 0 0 2 0 0 1 0 24.1 316847 chr7 80285970 80285978 AACAGCAGC - rs769898615 CD36 S80_N82del 0.001 0 0 0 1 0 0 0 0 0 0 0 316848 chr7 73649968 73649968 G C RFC2 Nonsynonymous SNV A180G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.11 316849 chr19 44792821 44792821 A C rs146948588 ZNF235 Nonsynonymous SNV I256S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 316850 chr7 91726201 91726201 C G AKAP9 Nonsynonymous SNV R3310G 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 316851 chr19 44039310 44039310 A G ZNF575 Nonsynonymous SNV K70R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.6 316852 chr19 44039835 44039835 A G rs779079849 ZNF575 Nonsynonymous SNV D245G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.59 316853 chr19 40718730 40718741 GTGGCAGCAGCA - rs759418693 MAP3K10 S530_G533del 0.001 0 0 0 1 0 0 0 0 0 0 0 316854 chrX 20043156 20043156 G A rs199956389 MAP7D2 Nonsynonymous SNV A356V 0 0 0.007 0 0 0 0 2 0 0 1 0 32 316855 chr19 41892595 41892595 C T rs540292584 EXOSC5 Synonymous SNV S217S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 316856 chr19 47589683 47589683 G T ZC3H4 Nonsynonymous SNV D276E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 316857 chr8 10468263 10468263 G A rs756787723 RP1L1 Synonymous SNV A1115A 0.003 0 0 0 3 0 0 0 0 0 0 0 6.122 316858 chr8 105368364 105368364 C T rs773993853 DCSTAMP Nonsynonymous SNV L451F 0.003 0 0 0 3 0 0 0 0 0 0 0 13.86 316859 chrX 53572088 53572088 G A rs151180939 HUWE1 Synonymous SNV L3650L 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 3.956 316860 chr19 44934592 44934592 A G rs180823319 ZNF229 Nonsynonymous SNV C116R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 316861 chr7 73246030 73246030 G - CLDN4 G167Afs*128 0.001 0 0 0 1 0 0 0 0 0 0 0 316862 chr10 124351879 124351879 C T rs142523929 DMBT1 Synonymous SNV T746T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.26 316863 chr8 110491798 110491798 T C rs751596328 PKHD1L1 Synonymous SNV S3036S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.013 316864 chr7 80290412 80290412 G A CD36 Synonymous SNV Q105Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.423 316865 chr10 129874894 129874894 G A rs775546928 PTPRE Nonsynonymous SNV E323K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 316866 chr19 45716471 45716471 G T rs111862689 EXOC3L2 Nonsynonymous SNV D362E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 316867 chr10 103340020 103340020 T C rs145030649 POLL Nonsynonymous SNV S175G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.298 316868 chr19 45898885 45898885 C T rs201478913 PPP1R13L Nonsynonymous SNV S388N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.69 316869 chr8 105263388 105263388 A G rs758938749 RIMS2 Synonymous SNV L212L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.68 316870 chr19 50104942 50104950 CCACCACCC - rs775008495 PRR12 P1516_P1518del 0.001 0 0 0 1 0 0 0 0 0 0 0 316871 chr10 105921745 105921745 C A rs377766932 CFAP43 Nonsynonymous SNV V1130F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 316872 chr8 134488233 134488233 A G ST3GAL1 Nonsynonymous SNV L12P 0.003 0 0 0 3 0 0 0 0 0 0 0 25 316873 chr19 51518197 51518197 T C rs143408931 KLK10 Synonymous SNV G230G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.239 316874 chr19 48869144 48869144 C T rs376351171 SYNGR4 Synonymous SNV A15A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.75 316875 chr8 143784415 143784415 C T rs782006835 LNCOC1 0.002 0 0 0 2 0 0 0 0 0 0 0 6.794 316876 chr10 12001273 12001273 T C rs775850427 UPF2 Nonsynonymous SNV N756S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 316877 chr8 144652503 144652503 C T rs774820460 MROH6 Nonsynonymous SNV R318H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 316878 chr19 51656254 51656254 G C rs776419441 LOC101928517 0.001 0 0 0 1 0 0 0 0 0 0 0 2.854 316879 chr19 52537755 52537755 G A rs146750106 ZNF432 Stop gain R393X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 316880 chr8 145532674 145532674 C T HSF1 Nonsynonymous SNV A67V 0 0 0 1 0 0 0.003 0 0 0 0 0 33 316881 chr8 145624409 145624409 G A rs782146235 CPSF1 Nonsynonymous SNV P496L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 316882 chr19 52709301 52709301 C T rs760874499 PPP2R1A Synonymous SNV Y85Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.298 316883 chr19 55098700 55098700 G T LILRA2 Nonsynonymous SNV V418L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.407 316884 chr8 18662109 18662109 G A rs141140112 PSD3 Synonymous SNV N77N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.226 316885 chr8 17447223 17447223 T C rs146759334 PDGFRL Nonsynonymous SNV I101T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 316886 chr10 255868 255868 C T rs759728228 ZMYND11 Synonymous SNV T52T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 316887 chr10 71151922 71151922 G A rs749520125 HK1 Nonsynonymous SNV V661M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 316888 chr8 144772293 144772293 G A ZNF707 Synonymous SNV Q5Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.7 316889 chr8 28196624 28196624 T C PNOC Star tloss M1? 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.18 316890 chr8 145557327 145557327 G A SCRT1 Synonymous SNV G189G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.847 316891 chr8 3265506 3265506 C G rs559348370 CSMD1 Nonsynonymous SNV Q662H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 21 316892 chr8 42275339 42275339 C T SLC20A2 Synonymous SNV G647G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.49 316893 chr8 55533513 55533513 A C RP1 0.002 0 0 0 2 0 0 0 0 0 0 0 14.5 316894 chr8 17407875 17407875 C T rs138338525 SLC7A2 Nonsynonymous SNV T255M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 316895 chr8 17421155 17421155 A C SLC7A2 Nonsynonymous SNV N572T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 316896 chr8 38827116 38827116 G A rs377588651 PLEKHA2 Nonsynonymous SNV E365K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.36 316897 chr20 390652 390652 C T rs149008463 RBCK1 Synonymous SNV S50S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.79 316898 chr8 66647074 66647074 A C rs145987232 PDE7A Synonymous SNV A217A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.124 316899 chr8 72756366 72756366 C T rs373037779 MSC Synonymous SNV G16G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.4 316900 chr8 98788249 98788249 C T rs139850434 LAPTM4B Synonymous SNV V4V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 316901 chr20 7886975 7886975 T C rs759865361 HAO1 Nonsynonymous SNV M183V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 316902 chr8 9609210 9609210 C T TNKS Nonsynonymous SNV S975F 0.002 0 0 0 2 0 0 0 0 0 0 0 24.6 316903 chr10 75393674 75393674 A C rs145071008 MYOZ1 Nonsynonymous SNV Y218D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 316904 chr10 75415604 75415604 T C rs759026761 SYNPO2L Nonsynonymous SNV E26G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 316905 chr8 95746872 95746872 C T rs570665836 DPY19L4 Nonsynonymous SNV R48C 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.7 316906 chr8 36766905 36766905 C T rs542427403 KCNU1 Nonsynonymous SNV P728L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.851 316907 chr8 41476220 41476220 C T rs192754152 GPAT4 Synonymous SNV G357G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.13 316908 chr10 89603883 89603883 C T rs760178 CFL1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 0.076 316909 chr9 109689696 109689696 G C ZNF462 Nonsynonymous SNV R1168P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 316910 chr9 109689704 109689704 G C ZNF462 Nonsynonymous SNV A1171P 0 0.003 0 0 0 1 0 0 0 0 0 0 23 316911 chr9 108128645 108128645 T G SLC44A1 Nonsynonymous SNV C477G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 316912 chr8 55055266 55055266 T C rs146739374 MRPL15 Nonsynonymous SNV L158S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.61 316913 chr9 116346516 116346516 C T rs144903962 RGS3 Nonsynonymous SNV H263Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 316914 chr20 37630439 37630439 A G rs141884441 DHX35 Nonsynonymous SNV T206A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 316915 chr20 39981467 39981467 T C LPIN3 Nonsynonymous SNV M497T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 316916 chr9 117405460 117405460 G A TMEM268 Nonsynonymous SNV R300Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 316917 chr20 40080554 40080554 A G rs145708080 CHD6 Synonymous SNV Y1145Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.54 316918 chr9 123927347 123927347 C T rs775141369 CNTRL Synonymous SNV N1298N 0.003 0 0 0 3 0 0 0 0 0 0 0 14.66 316919 chr9 125316409 125316409 C - OR1N2 L307Ffs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 316920 chr9 125391008 125391008 G A OR1B1 Synonymous SNV P269P 0 0.003 0 0 0 1 0 0 0 0 0 0 10.02 316921 chr11 102713254 102713254 T G MMP3 Nonsynonymous SNV K136T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 316922 chr9 129870558 129870558 G A rs377308519 ANGPTL2 Synonymous SNV N151N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.128 316923 chr20 46318898 46318898 G A rs753117627 SULF2 Nonsynonymous SNV R237C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 316924 chr11 107299697 107299697 G A rs754780873 CWF19L2 Nonsynonymous SNV R421C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 316925 chr11 108115544 108115544 A G rs587782229 ATM Nonsynonymous SNV H231R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.28 316926 chr9 130684365 130684365 C T rs377204058 PIP5KL1 Nonsynonymous SNV E113K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 316927 chr20 47871053 47871053 C T rs34291499 ZNFX1 Nonsynonymous SNV V980I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.63 316928 chr9 130863498 130863498 G A SLC25A25 Nonsynonymous SNV D129N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 316929 chr20 32295596 32295596 G A rs767911987 PXMP4 Synonymous SNV S185S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 316930 chr20 33033222 33033222 - TTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGGGTGAGCAGCCTGTTGTTTAATAAACTAATAAGAGTA ITCH Frameshift insertion N271Vfs*81 0.001 0 0 0 1 0 0 0 0 0 0 0 316931 chr20 33439986 33439986 C T rs772658673 GGT7 Nonsynonymous SNV R520Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 316932 chr20 33524619 33524620 TG - GSS T238Ifs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 316933 chr20 52782346 52782346 T A rs367995295 CYP24A1 Stop gain R223X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 316934 chr9 115936748 115936748 T C rs200063335 FKBP15 Nonsynonymous SNV K780R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 316935 chr9 131847878 131847878 C T rs372491970 DOLPP1 Synonymous SNV F148F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.14 316936 chr20 39832810 39832810 G T rs201454849 ZHX3 Nonsynonymous SNV N249K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 316937 chr11 17393665 17393665 G A rs115770570 NCR3LG1 Nonsynonymous SNV R324Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.63 316938 chr9 134351356 134351356 A G rs761040726 PRRC2B Synonymous SNV R1280R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.34 316939 chr9 133957502 133957502 G A rs149715525 LAMC3 Synonymous SNV A1328A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.23 316940 chr9 137591908 137591908 C A rs561761305 COL5A1 Nonsynonymous SNV T144K 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.9 316941 chr9 118163574 118163574 G T rs768999138 DEC1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 316942 chr9 137591909 137591909 G T rs528963362 COL5A1 Synonymous SNV T144T 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 11.96 316943 chr9 135983583 135983583 G A rs749029769 RALGDS Nonsynonymous SNV A275V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 316944 chr11 18740269 18740269 G A rs201466035 IGSF22 Nonsynonymous SNV R235W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 316945 chr20 62407119 62407119 G A rs757077443 ZBTB46 Synonymous SNV N378N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 316946 chr9 139728211 139728211 G A rs761628258 RABL6 Nonsynonymous SNV V249I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.217 316947 chr11 12225995 12225995 G A rs141854321 MICAL2 Nonsynonymous SNV D155N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 316948 chr11 12315130 12315130 C T MICALCL Nonsynonymous SNV S51L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 316949 chr9 15172092 15172092 A G rs140541523 TTC39B Synonymous SNV D589D 0.003 0 0 0 3 0 0 0 0 0 0 0 5.34 316950 chr21 36206845 36206845 C T rs878854468 RUNX1 Nonsynonymous SNV E196K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.5 316951 chr9 19346812 19346812 G A rs761503516 DENND4C Nonsynonymous SNV V1300M 0.003 0 0 0 3 0 0 0 0 0 0 0 24.2 316952 chr11 44265733 44265733 G A rs367897723 EXT2 Nonsynonymous SNV G718R 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 25.3 316953 chr9 21029314 21029317 CTGA - HACD4 V40Dfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 316954 chr11 1309957 1309957 G A rs370240528 TOLLIP Nonsynonymous SNV P89L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 316955 chr11 46333960 46333960 A G CREB3L1 Nonsynonymous SNV K280E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 316956 chr11 14482788 14482788 T C rs141814251 COPB1 Nonsynonymous SNV T834A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 316957 chr9 35906586 35906586 - CCACCACCACCCCCACCACCACCCCCACCACACCCCTCACCACCT HRCT1 H104_H105insPHHHPHHTPHHLHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 316958 chr9 35846569 35846569 A G rs774959737 TMEM8B Nonsynonymous SNV H277R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 316959 chr11 18735610 18735610 C T rs764722880 IGSF22 Synonymous SNV K628K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 316960 chr11 2017533 2017533 G A rs751232893 H19 0 0 0.003 0 0 0 0 1 0 0 0 0 8.328 316961 chr11 2442329 2442329 C T rs375141894 TRPM5 Nonsynonymous SNV R133H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 316962 chr9 95846925 95846925 C A rs149456736 SUSD3 Nonsynonymous SNV Q115K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.063 316963 chr9 847109 847109 A G rs146767985 DMRT1 Synonymous SNV P10P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 316964 chr11 32460557 32460557 G T WT1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 7.936 316965 chr21 44152058 44152058 A G rs144365095 PDE9A Synonymous SNV P80P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.902 316966 chr9 2622318 2622318 G A rs1036188333 VLDLR-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.794 316967 chr11 4389405 4389405 G A rs201331071 OR52B4 Nonsynonymous SNV L41F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 316968 chr11 4703812 4703812 C T rs201476916 OR51E2 Nonsynonymous SNV V44M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 316969 chr11 48185023 48185023 A G PTPRJ Nonsynonymous SNV E1191G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 316970 chr11 4825227 4825227 A G rs749131074 OR52R1 Synonymous SNV A128A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 316971 chrX 12904299 12904299 A G rs201092927 TLR7 Synonymous SNV P224P 0 0 0 2 0 0 0.005 0 0 0 0 1 0.082 316972 chrX 135115628 135115628 G A rs146263125 SLC9A6 Nonsynonymous SNV R568Q 0.003 0 0 0 4 0 0 0 1 0 0 0 Benign/Likely benign 34 316973 chrX 138644053 138644053 T C rs900302000 F9 Synonymous SNV G365G 0.003 0 0 0 4 0 0 0 1 0 0 0 0.354 316974 chrX 149638487 149638487 G A MAMLD1 Synonymous SNV Q189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 316975 chrX 152938708 152938708 G A rs782812371 PNCK Synonymous SNV C6C 0.003 0 0 0 4 0 0 0 1 0 0 0 4.113 316976 chr9 90342585 90342585 C A CTSL Nonsynonymous SNV H23N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.084 316977 chrX 153697048 153697048 G A rs200677416 PLXNA3 Synonymous SNV T1421T 0.003 0 0 0 4 0 0 0 1 0 0 0 8.969 316978 chrX 48460192 48460192 C T rs182379456 WDR13 Synonymous SNV N192N 0.003 0 0 0 3 0 0 0 1 0 0 0 15.99 316979 chr11 544758 544758 G A rs759067534 LRRC56 Nonsynonymous SNV G102S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 316980 chr9 98209400 98209400 C T rs111481152 PTCH1 Nonsynonymous SNV A1328T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 316981 chrX 30326899 30326899 C A NR0B1 Synonymous SNV A194A 0.003 0 0 0 4 0 0 0 1 0 0 0 13.95 316982 chr22 39537401 39537401 G A rs989034152 CBX7 Nonsynonymous SNV R52C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 316983 chrX 32407732 32407732 C A DMD Nonsynonymous SNV E127D 0.003 0 0 0 4 0 0 0 1 0 0 0 23.4 316984 chrX 66765826 66765826 C T AR Nonsynonymous SNV R280C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 316985 chrX 70330083 70330083 T C IL2RG Nonsynonymous SNV N173D 0 0.005 0 0 0 2 0 0 0 1 0 0 11.85 316986 chr22 31686950 31686950 C - PIK3IP1 0.001 0 0 0 1 0 0 0 0 0 0 0 316987 chr22 44892764 44892764 C T RTL6 Nonsynonymous SNV G225R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 316988 chrX 54026345 54026345 G A rs199987311 PHF8 Synonymous SNV G433G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.787 316989 chr11 6231839 6231839 G A rs957628819 C11orf42 Nonsynonymous SNV G278S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 316990 chr22 44319923 44319923 C T rs756441328 PNPLA3 Synonymous SNV F44F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 316991 chr11 56431653 56431653 C T rs145297431 OR5AR1 Synonymous SNV F164F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.491 316992 chr10 104613987 104613987 T C BORCS7-ASMT 0.001 0 0 0 1 0 0 0 0 0 0 0 0.199 316993 chr22 46930596 46930596 G A rs779974480 CELSR1 Synonymous SNV I824I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.08 316994 chr22 39482524 39482524 C T rs375494335 APOBEC3G Nonsynonymous SNV R259C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.55 316995 chr22 50970542 50970542 T G rs923306993 ODF3B 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 316996 chr10 105198517 105198517 T C PDCD11 Nonsynonymous SNV L1326P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 316997 chrX 49030696 49030696 C T rs782695122 PLP2 Synonymous SNV I120I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 316998 chr10 126312138 126312138 G A rs62642490 FAM53B Synonymous SNV S314S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 316999 chr10 126673509 126673509 C T rs200793201 ZRANB1 Nonsynonymous SNV P692L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 317000 chr10 101439083 101439085 TTG - ENTPD7 V88del 0.001 0 0 0 1 0 0 0 0 0 0 0 317001 chr10 124402875 124402875 G C DMBT1 Nonsynonymous SNV Q1773H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 317002 chr11 61511466 61511466 G A rs765193477 DAGLA Synonymous SNV E878E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.263 317003 chr10 124749793 124749793 G A rs906134929 PSTK Synonymous SNV L327L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 317004 chr11 61730478 61730478 A G BEST1 Nonsynonymous SNV S512G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 317005 chrX 96139797 96139797 A G rs184130356 RPA4 Nonsynonymous SNV N163S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.115 317006 chr11 6239134 6239134 C A FAM160A2 Nonsynonymous SNV G561V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 317007 chr10 104263974 104263974 C A SUFU Nonsynonymous SNV A22D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 317008 chrX 37893186 37893186 A G rs775135006 SYTL5 Nonsynonymous SNV D15G 0 0 0 2 0 0 0.005 0 0 0 0 1 26.2 317009 chrX 107865082 107865082 T G COL4A5 Synonymous SNV P909P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.801 317010 chr11 637493 637493 C T rs141565361 DRD4 Synonymous SNV R63R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 317011 chrX 47058692 47058692 C A UBA1 Synonymous SNV I87I 0 0 0 2 0 0 0.005 0 0 0 0 1 21.8 317012 chr10 106976789 106976789 C T rs375407867 SORCS3 Synonymous SNV H881H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 317013 chr11 64055343 64055343 C T rs747219728 GPR137 Synonymous SNV C186C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 317014 chrX 124456105 124456105 C T rs776788273 TEX13C Synonymous SNV L713L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.84 317015 chr11 88242512 88242512 C G rs199674837 GRM5 Nonsynonymous SNV A931P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 317016 chr11 65273453 65273453 T C rs202070768 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 317017 chr11 90288945 90288945 G T rs760514586 MIR4490 0 0 0.003 0 0 0 0 1 0 0 0 0 6.302 317018 chr1 1133029 1133029 C T rs559027586 TTLL10 Synonymous SNV G608G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.46 317019 chr10 30604896 30604896 C T rs772000928 MTPAP Nonsynonymous SNV R461Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 317020 chrX 141290684 141290684 C T rs777350105 MAGEC2 Nonsynonymous SNV V364I 0.002 0 0 0 2 0 0 0 1 0 0 0 6.48 317021 chr10 134659613 134659613 G C CFAP46 Nonsynonymous SNV T2129S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 317022 chr10 135012657 135012657 C T KNDC1 Nonsynonymous SNV S882L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 317023 chr10 50533240 50533240 T A rs770394950 C10orf71 Nonsynonymous SNV S884T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.674 317024 chr12 120984235 120984235 G A rs376427405 RNF10 Nonsynonymous SNV R62H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 317025 chr12 12300309 12300309 C T rs142845287 LRP6 Nonsynonymous SNV D1130N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 317026 chr10 64415268 64415268 T A rs376116311 ZNF365 Nonsynonymous SNV S90T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.657 317027 chr10 7412252 7412252 T C rs145261895 SFMBT2 Synonymous SNV S62S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 317028 chr10 72298758 72298758 C T rs61741064 PALD1 Synonymous SNV S521S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.58 317029 chr10 73122350 73122350 G A rs777788050 SLC29A3 Synonymous SNV L393L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.497 317030 chr10 79745893 79745893 C T rs936203460 POLR3A Nonsynonymous SNV V976I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 317031 chr10 81065296 81065296 C T rs377519817 ZMIZ1 Synonymous SNV T787T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 317032 chr10 5788325 5788325 - A rs774079515 TASOR2 Stop gain Y900* 0.001 0 0 0 1 0 0 0 0 0 0 0 317033 chr12 113599747 113599749 TCT - rs146114970 DDX54 K750del 0 0 0.003 0 0 0 0 1 0 0 0 0 317034 chr12 119773026 119773026 C T CCDC60 Synonymous SNV N15N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.734 317035 chr12 39724052 39724052 A G rs150294289 KIF21A Nonsynonymous SNV V1075A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.86 317036 chr12 124305212 124305212 C T rs755664935 DNAH10 Synonymous SNV F1244F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.458 317037 chr12 125612762 125612762 T C rs199853330 AACS Synonymous SNV Y414Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.707 317038 chr12 51384607 51384607 C T rs372439379 SLC11A2 Nonsynonymous SNV V512M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 317039 chr10 88649934 88649934 C T rs140610221 BMPR1A Synonymous SNV C61C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.62 317040 chr12 21370203 21370203 C A SLCO1B1 Nonsynonymous SNV L550I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.798 317041 chr11 112097173 112097173 A G PTS Nonsynonymous SNV T3A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 317042 chr1 52851616 52851616 C T ORC1 Synonymous SNV K463K 0.002 0 0 0 2 0 0 0 0 0 0 0 12.72 317043 chr11 10624764 10624764 C T rs199928205 MRVI1 Nonsynonymous SNV R278Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317044 chr12 33592381 33592381 G A rs750439224 SYT10 Nonsynonymous SNV A26V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 317045 chr12 39763960 39763960 T C rs778279184 KIF21A Nonsynonymous SNV T50A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 317046 chr11 111746790 111746790 G A FDXACB1 Nonsynonymous SNV T244I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.883 317047 chr11 117096694 117096694 T G PCSK7 Synonymous SNV A271A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.339 317048 chr11 118923503 118923503 C T rs148334358 HYOU1 Nonsynonymous SNV R278Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 317049 chr12 53045563 53045563 G A rs530180060 KRT2 Nonsynonymous SNV R122C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 317050 chr11 11373564 11373564 G A CSNK2A3 Nonsynonymous SNV A368V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.79 317051 chr11 1244371 1244371 G A rs868610992 MUC5B Synonymous SNV A6A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.405 317052 chr11 128709302 128709302 A G rs147861417 KCNJ1 Synonymous SNV D298D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.556 317053 chr11 1255073 1255073 G A MUC5B Nonsynonymous SNV S791N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.287 317054 chr11 126174051 126174051 G A DCPS Nonsynonymous SNV E26K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 317055 chr11 119059476 119059476 C G rs749799476 PDZD3 Nonsynonymous SNV P396R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 317056 chr12 6657973 6657973 - C rs750779916 IFFO1 Frameshift insertion R364Afs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 317057 chr12 68720496 68720496 - CCACATTTCATTCCCCATTATCTACATTTTCTG MDM1 Stop gain N147_T679delinsQKM 0 0 0.003 0 0 0 0 1 0 0 0 0 317058 chr12 68720498 68720498 - AGAAC MDM1 Frameshift insertion V146Gfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 317059 chr12 68720500 68720500 - TGGTAGAATGTTCCAGTTCCACACATGAG MDM1 Frameshift insertion V146Sfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 317060 chr12 6994519 6994519 T - rs376232468 DSTNP2 0 0 0.003 0 0 0 0 1 0 0 0 0 317061 chr1 119683262 119683262 C G rs747265849 WARS2 Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 317062 chr12 7476153 7476153 T C rs61742705 ACSM4 Synonymous SNV Y435Y 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.175 317063 chr12 76447646 76447646 G A NAP1L1 Nonsynonymous SNV T162I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 317064 chr1 150531139 150531139 C T rs762527760 ADAMTSL4 Nonsynonymous SNV P858L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.851 317065 chr12 85421719 85421719 A C rs918362481 TSPAN19 Synonymous SNV G74G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 317066 chr12 86272177 86272177 C A rs142266362 NTS Nonsynonymous SNV L64I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 317067 chr11 108352009 108352009 A T rs771598642 POGLUT3 Nonsynonymous SNV N332K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 317068 chr13 52509155 52509155 G A rs181250704 ATP7B Nonsynonymous SNV P1172S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.6 317069 chr13 100622837 100622837 - CGG ZIC5 P364_A365insP 0 0 0.003 0 0 0 0 1 0 0 0 0 317070 chr11 134026963 134026963 G A NCAPD3 Nonsynonymous SNV S1263L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 317071 chr13 103527833 103527833 A C rs780858049 BIVM-ERCC5, ERCC5 Synonymous SNV L1047L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 317072 chr11 17653380 17653380 C T rs1049733000 OTOG Nonsynonymous SNV R2294C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 317073 chr14 101531669 101531669 T C MIR409 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 317074 chr14 103996638 103996638 G T TRMT61A Nonsynonymous SNV C108F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 317075 chr11 43427167 43427167 A G rs141942224 TTC17 Nonsynonymous SNV N528S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 317076 chr11 43515324 43515324 A C TTC17 Nonsynonymous SNV E1099A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 317077 chr14 105055081 105055081 C T rs556768142 C14orf180 Nonsynonymous SNV R134C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.824 317078 chr13 30075329 30075329 C G MTUS2 Synonymous SNV T277T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 317079 chr13 41373392 41373392 C T rs536354947 SLC25A15 Synonymous SNV Y85Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.42 317080 chr1 156640658 156640658 G C NES Nonsynonymous SNV L1108V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.038 317081 chr13 92346114 92346114 T C rs766953245 GPC5 Synonymous SNV N333N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.05 317082 chr14 29261305 29261305 A - rs202195469 LINC01551 0 0 0.003 0 0 0 0 1 0 0 0 0 317083 chr14 35252394 35252394 T C BAZ1A Nonsynonymous SNV K649R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 317084 chr14 101518827 101518827 G A rs143972054 MIR487A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.9 317085 chr1 193149623 193149623 G C rs556506356 B3GALT2 Nonsynonymous SNV P357R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 317086 chr14 104491992 104491992 C T rs149841311 TDRD9 Nonsynonymous SNV T937M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 317087 chr1 203013865 203013865 G A rs757998957 PPFIA4 Synonymous SNV A206A 0.002 0 0 0 2 0 0 0 0 0 0 0 10.23 317088 chr14 23564354 23564354 C T rs773143834 ACIN1 Nonsynonymous SNV A48T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 317089 chr14 67525496 67525496 T C rs367922046 GPHN Synonymous SNV N346N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.563 317090 chr11 59271770 59271770 C A rs745442885 OR4D11 Nonsynonymous SNV T241N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 317091 chr1 223567946 223567946 C T CCDC185 Nonsynonymous SNV R377W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 317092 chr14 31348063 31348063 C A rs761156534 COCH Nonsynonymous SNV P96T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 317093 chr1 224588664 224588664 C T rs546783304 WDR26 Synonymous SNV Q453Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 317094 chr11 56344419 56344419 A G OR5M10 Nonsynonymous SNV V260A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.67 317095 chr1 206225146 206225146 G C rs376475947 AVPR1B Nonsynonymous SNV A236P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 317096 chr15 25966966 25966966 C T rs201206599 ATP10A Nonsynonymous SNV E401K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 317097 chr11 65049186 65049186 G T POLA2 Nonsynonymous SNV A316S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317098 chr14 73412626 73412626 A C rs141191522 DCAF4 Nonsynonymous SNV N129T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 317099 chr14 74179661 74179661 C T rs769093480 PNMA1 Nonsynonymous SNV E228K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 317100 chr11 65408598 65408598 G T rs904571941 SIPA1 Nonsynonymous SNV R69L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 317101 chr11 6567286 6567286 G A rs762632566 DNHD1 Nonsynonymous SNV R1706H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 317102 chr14 91809970 91809970 C T rs373719057 CCDC88C Synonymous SNV L124L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 15.52 317103 chr15 42978237 42978237 T G rs770075232 STARD9 Synonymous SNV L1487L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.876 317104 chr14 96904232 96904232 A G rs746219659 AK7 Nonsynonymous SNV M224V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 317105 chr14 99973458 99973458 C T rs759607767 CCNK Nonsynonymous SNV P364L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 317106 chr11 62416448 62416448 C T INTS5 Synonymous SNV V368V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.568 317107 chr11 77937733 77937733 T G GAB2 Nonsynonymous SNV T291P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 317108 chr15 40698151 40698151 G C rs139179135 IVD Synonymous SNV G41G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.43 317109 chr11 65629743 65629743 C T rs200286461 MUS81 Nonsynonymous SNV S171F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.357 317110 chr15 41988976 41988976 A G rs772197698 MGA Nonsynonymous SNV M590V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.976 317111 chr11 65746385 65746385 C T rs369415657 SART1 Nonsynonymous SNV A795V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 317112 chr11 65780350 65780350 C T CST6 Synonymous SNV C98C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.034 317113 chr15 74325024 74325024 G A rs11555843 PML Nonsynonymous SNV A456T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 317114 chr15 74560703 74560703 C T rs202101418 CCDC33 Synonymous SNV A150A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 317115 chr11 6633232 6633232 G C rs758156934 TAF10 Synonymous SNV P63P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.378 317116 chr2 47403656 47403656 G A rs776582502 CALM2 Stop gain R9X 0.002 0 0 0 2 0 0 0 0 0 0 0 17.93 317117 chr11 71728727 71728727 G A rs769723608 LOC100128494 0.001 0 0 0 1 0 0 0 0 0 0 0 8.983 317118 chr15 65273223 65273223 T C rs144361698 SPG21 Synonymous SNV G68G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.555 317119 chr11 76892463 76892463 G A rs781926323 MYO7A Nonsynonymous SNV R911Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 317120 chr11 95522637 95522637 C T FAM76B Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 317121 chr15 72461288 72461288 G A rs201683821 GRAMD2A Stop gain R62X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 317122 chr11 6643719 6643719 C T DCHS1 Nonsynonymous SNV R3063H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317123 chr2 74725147 74725147 G A rs773918352 LBX2 Synonymous SNV P164P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.94 317124 chr15 74707033 74707033 A G rs776986908 SEMA7A Synonymous SNV R369R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 317125 chr11 8132499 8132499 T - RIC3 R104Efs*75 0.001 0 0 0 1 0 0 0 0 0 0 0 317126 chr15 80215645 80215645 G C ST20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.876 317127 chr11 86778768 86778768 C G rs139866926 TMEM135 Nonsynonymous SNV D58E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.04 317128 chr11 86778801 86778801 A G rs145329520 TMEM135 Synonymous SNV L69L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.512 317129 chr15 83297149 83297149 G A CPEB1 Nonsynonymous SNV S21L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.761 317130 chr2 100020223 100020223 G C REV1 Nonsynonymous SNV A1033G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 317131 chr12 123463521 123463521 C T rs753972430 OGFOD2 Synonymous SNV F87F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.178 317132 chr15 89430538 89430538 G A rs770986786 HAPLN3 Nonsynonymous SNV H60Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.86 317133 chr15 90167480 90167480 C T rs760686772 TICRR Synonymous SNV T1312T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.453 317134 chr12 113731099 113731099 G A rs766096215 TPCN1 Nonsynonymous SNV R692Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317135 chr16 2835930 2835930 C T rs766773661 PRSS33 Nonsynonymous SNV V38I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 317136 chr16 28497740 28497740 A G CLN3 Nonsynonymous SNV L102P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 317137 chr15 90346921 90346921 G T rs377426081 ANPEP Nonsynonymous SNV P465Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 317138 chr12 104396914 104396914 G A rs766554936 GLT8D2 Stop gain R95X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 317139 chr12 133147011 133147011 G A rs944839188 FBRSL1 Synonymous SNV A366A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 317140 chr12 108589971 108589971 G A rs201631606 WSCD2 Nonsynonymous SNV R121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 317141 chr16 1129271 1129271 G A rs148406047 SSTR5 Nonsynonymous SNV V135M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 317142 chr12 111785648 111785648 C T CUX2 Nonsynonymous SNV P1265L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 317143 chr16 1412274 1412274 C A rs374470431 GNPTG Nonsynonymous SNV A160E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 317144 chr16 1613998 1613998 C T rs143537808 IFT140 Synonymous SNV A689A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 317145 chr12 43819436 43819436 T C rs374493724 ADAMTS20 Nonsynonymous SNV N1389D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.24 317146 chr12 122248411 122248411 G A rs979307421 SETD1B Synonymous SNV P520P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.067 317147 chr16 2086989 2086989 G C rs114276628 SLC9A3R2 Nonsynonymous SNV S150T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.574 317148 chr16 67220551 67220551 C T rs149152216 EXOC3L1 Nonsynonymous SNV E432K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 317149 chr16 2120561 2120561 G A rs149543046 TSC2 Synonymous SNV A407A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.32 317150 chr12 49418646 49418646 C T KMT2D Nonsynonymous SNV G5290S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 317151 chr16 2260025 2260025 G A rs58292351 BRICD5 Nonsynonymous SNV H122Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 317152 chr16 67572328 67572328 G A rs779856915 RIPOR1 Synonymous SNV G13G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 317153 chr16 2314203 2314203 G T rs763078076 RNPS1 Nonsynonymous SNV S44R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.334 317154 chr16 23646658 23646658 C T rs786202452 PALB2 Synonymous SNV L403L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.15 317155 chr12 124399418 124399418 C - DNAH10 D3416Mfs*54 0.001 0 0 0 1 0 0 0 0 0 0 0 317156 chr16 71483635 71483635 A G ZNF23 Nonsynonymous SNV I40T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317157 chr16 71956535 71956535 T C rs62639219 IST1 Synonymous SNV P89P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.757 317158 chr12 133153455 133153455 C T rs777297153 FBRSL1 Nonsynonymous SNV P634L 0.001 0 0 0 1 0 0 0 0 0 0 0 26 317159 chr12 53241708 53241708 C G rs145379798 KRT78 Nonsynonymous SNV E84D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 317160 chr12 133360719 133360719 G A rs145340809 GOLGA3 Nonsynonymous SNV R1100C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.179 317161 chr16 3658735 3658735 T C rs143279888 SLX4 Synonymous SNV Q77Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.003 317162 chr16 48167657 48167657 C T rs61746397 ABCC12 Nonsynonymous SNV A357T 0 0 0.003 0 0 0 0 1 0 0 0 0 26 317163 chr12 50188626 50188626 G A rs562062839 NCKAP5L Nonsynonymous SNV T1006M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 317164 chr12 56211897 56211897 G A ORMDL2 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 317165 chr16 87799464 87799464 G T KLHDC4 Synonymous SNV G11G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 317166 chr12 57963870 57963870 G C KIF5A Synonymous SNV V317V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.951 317167 chr16 57059674 57059674 G A rs145752799 NLRC5 Synonymous SNV P273P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.409 317168 chr12 58021410 58021410 C T B4GALNT1 Nonsynonymous SNV A404T 0.001 0 0 0 1 0 0 0 0 0 0 0 31 317169 chr16 58010422 58010422 T C rs200120066 TEPP Nonsynonymous SNV I16T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 317170 chr16 598212 598212 C T rs370414323 CAPN15 Synonymous SNV H458H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 317171 chr12 133804530 133804530 G A rs569365094 ANHX Synonymous SNV N127N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.906 317172 chr16 68013636 68013636 C T rs754135725 DPEP3 Nonsynonymous SNV R107H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 317173 chr12 57037518 57037518 C G SNORD59B 0.001 0 0 0 1 0 0 0 0 0 0 0 0.851 317174 chr16 89874752 89874752 C T rs766417293 FANCA Synonymous SNV V150V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 317175 chr12 69968611 69968611 C T FRS2 Nonsynonymous SNV T468I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 317176 chr17 1183463 1183463 C T rs552062038 TRARG1 Synonymous SNV N56N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.335 317177 chr17 1198892 1198892 G A rs770378061 TRARG1 Nonsynonymous SNV M165I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317178 chr16 72134421 72134421 C T rs754552717 DHX38 Synonymous SNV N401N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 317179 chr16 72991451 72991451 T C rs139430946 ZFHX3 Nonsynonymous SNV Y865C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.1 317180 chr12 129558423 129558423 C A rs555850748 TMEM132D Synonymous SNV V1099V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.967 317181 chr16 75269619 75269619 C T rs199561794 BCAR1 Nonsynonymous SNV R183Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 317182 chr12 132269748 132269748 G A rs761786553 SFSWAP Nonsynonymous SNV E847K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 317183 chr12 132329942 132329942 C T rs113706780 MMP17 Synonymous SNV S384S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.61 317184 chr12 79611353 79611353 C T rs765977954 SYT1 Synonymous SNV V18V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 317185 chr2 223339437 223339437 A C rs149282828 SGPP2 Nonsynonymous SNV I124L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.93 317186 chr17 18036642 18036642 T C rs201808265 MYO15A Nonsynonymous SNV I1475T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24 317187 chr2 233431889 233431889 C G rs370036253 EIF4E2 Synonymous SNV T165T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 317188 chr16 88787948 88787948 G A rs746770283 PIEZO1 Synonymous SNV L1801L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.299 317189 chr16 88951529 88951529 C T rs140507946 CBFA2T3 Nonsynonymous SNV A262T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 317190 chr16 89167616 89167616 C A rs368696141 ACSF3 Nonsynonymous SNV T176N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317191 chr12 55863900 55863900 A G rs201511358 OR6C70 Nonsynonymous SNV I8T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.918 317192 chr16 89831370 89831370 G C rs587778315 FANCA Nonsynonymous SNV D902E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.64 317193 chr12 57970097 57970097 C T rs779614400 KIF5A Nonsynonymous SNV R623W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 317194 chr3 3030083 3030083 C T rs1037405854 CNTN4 Synonymous SNV D143D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 317195 chr12 50746506 50746506 G A rs767560347 FAM186A Nonsynonymous SNV A1370V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 317196 chr17 17887186 17887186 A G rs193222617 DRC3 Nonsynonymous SNV K69E 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 317197 chr3 10392098 10392098 C T rs749393972 ATP2B2 Nonsynonymous SNV R722H 0.001 0 0 0 1 0 0 0 0 0 0 0 27 317198 chr12 53462020 53462020 G A SPRYD3 Synonymous SNV L254L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.24 317199 chr12 53591350 53591352 GTC - ITGB7 D167del 0.001 0 0 0 1 0 0 0 0 0 0 0 317200 chr12 94725523 94725523 T A rs200232390 CEP83 Nonsynonymous SNV N479Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.59 317201 chr12 6859356 6859356 G A MLF2 Nonsynonymous SNV S129L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 317202 chr12 56385173 56385173 C A RAB5B Nonsynonymous SNV S115R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 317203 chr12 6927601 6927601 T C CD4 Nonsynonymous SNV S212P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 317204 chr17 34073181 34073181 G A GAS2L2 Synonymous SNV A445A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.171 317205 chr17 4719925 4719925 C G rs200699572 PLD2 Nonsynonymous SNV P489R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 317206 chr17 34849816 34849817 AG - rs770891896 ZNHIT3 D85Qfs*105 0 0 0.003 0 0 0 0 1 0 0 0 0 317207 chr12 57910851 57910851 T A DDIT3 Nonsynonymous SNV D107V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 317208 chr12 6058290 6058290 C T rs150577615 VWF Nonsynonymous SNV R2778Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 317209 chr17 36927517 36927517 T C PIP4K2B Synonymous SNV A272A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.979 317210 chr13 103718370 103718370 C T rs143297386 SLC10A2 Nonsynonymous SNV G77E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.9 317211 chr14 102502958 102502958 C T rs141133453 DYNC1H1 Synonymous SNV F3629F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.76 317212 chr3 49690358 49690358 C T BSN Synonymous SNV C1123C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.462 317213 chr13 24415527 24415527 A G MIPEP Nonsynonymous SNV Y403H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.968 317214 chr17 636351 636351 G A rs765420396 TLCD3A Nonsynonymous SNV V46M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 317215 chr13 78273178 78273178 T C SLAIN1 Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.086 317216 chr13 103382952 103382952 - AAGG rs1055304003 CCDC168 Frameshift insertion V6699Pfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 317217 chr13 31835089 31835089 T A rs976708734 B3GLCT Nonsynonymous SNV F156I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 317218 chr12 9086589 9086589 C T PHC1 Synonymous SNV D674D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.913 317219 chr17 42734588 42734588 T C rs144837294 MEIOC Synonymous SNV L55L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.2 317220 chr3 56650034 56650034 C A rs758872702 CCDC66 Nonsynonymous SNV T566K 0.002 0 0 0 2 0 0 0 0 0 0 0 1.045 317221 chr17 7224931 7224931 C T rs765721028 NEURL4 Nonsynonymous SNV R1014H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 317222 chr13 43566291 43566291 C T rs113704608 EPSTI1 Nonsynonymous SNV R4H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 317223 chr17 45886525 45886525 C T rs376859496 OSBPL7 Nonsynonymous SNV R696H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 317224 chr3 62501843 62501843 A G CADPS Synonymous SNV D824D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.261 317225 chr17 46799745 46799745 C T PRAC1 Nonsynonymous SNV A4T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 317226 chr14 36003953 36003953 G A rs747445312 INSM2 Synonymous SNV L165L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.998 317227 chr13 49748603 49748603 C T FNDC3A Synonymous SNV Y365Y 0.001 0 0 0 1 0 0 0 0 0 0 0 4.02 317228 chr14 23776993 23776993 C T BCL2L2, BCL2L2-PABPN1 Nonsynonymous SNV S6L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 317229 chr17 73830423 73830423 G A rs767940092 UNC13D Nonsynonymous SNV R761C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 317230 chr13 107145673 107145673 G A rs137953662 EFNB2 Synonymous SNV I208I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 317231 chr14 45433013 45433016 GAAG - TOGARAM1 Stop gain E465* 0.001 0 0 0 1 0 0 0 0 0 0 0 317232 chr13 76395590 76395590 C T rs41286128 LMO7 Nonsynonymous SNV R502C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 317233 chr17 5009715 5009715 C T ZNF232 Nonsynonymous SNV E238K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 317234 chr13 96282335 96282335 G T DZIP1 Synonymous SNV R240R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.147 317235 chr13 32705943 32705943 T C rs777960871 FRY Nonsynonymous SNV V284A 0.001 0 0 0 1 0 0 0 0 0 0 0 27 317236 chr17 56060443 56060443 A G rs144367009 VEZF1 Synonymous SNV L115L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.2 317237 chr14 102798158 102798158 C T rs960378496 ZNF839 Nonsynonymous SNV S348L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 317238 chr14 24675857 24675857 C A rs761619135 TSSK4 Nonsynonymous SNV P123H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.8 317239 chr14 61446288 61446288 T C rs772996311 TRMT5 Nonsynonymous SNV M138V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 317240 chr3 118621440 118621440 T C rs946463059 IGSF11 Nonsynonymous SNV H408R 0.003 0 0 0 4 0 0 0 0 0 0 0 6.463 317241 chr17 63185431 63185431 G A rs142843407 RGS9 Nonsynonymous SNV E225K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 317242 chr13 50265489 50265490 CG - EBPL A24Gfs*64 0.001 0 0 0 1 0 0 0 0 0 0 0 317243 chr3 125855652 125855652 G A rs369742734 ALDH1L1 Synonymous SNV A332A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.649 317244 chr14 21502077 21502077 T C rs139233647 RNASE13 Nonsynonymous SNV Y124C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.098 317245 chr17 72436002 72436002 C T rs147345722 GPRC5C Synonymous SNV P29P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.404 317246 chr13 50204772 50204772 C T rs139544934 ARL11 Synonymous SNV D63D 0.002 0 0 0 2 0 0 0 0 0 0 0 12.21 317247 chr14 74824728 74824728 C T rs2232035 VRTN Synonymous SNV S414S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.3 317248 chr14 81610449 81610449 A - TSHR K683Rfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 317249 chr17 73497922 73497922 C T rs766946055 CASKIN2 Nonsynonymous SNV R996Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.784 317250 chr17 73827214 73827214 G C UNC13D Nonsynonymous SNV L864V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 317251 chr17 74076076 74076079 GTAA - rs549500563 ZACN 0 0 0.003 0 0 0 0 1 0 0 0 0 317252 chr3 133099303 133099303 C A rs376604681 TMEM108 Nonsynonymous SNV P250T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.53 317253 chr17 74382199 74382199 C T rs150987464 SPHK1 Synonymous SNV S48S 0.001 0 0.007 1 1 0 0.003 2 0 0 0 0 14.9 317254 chr17 74465813 74465813 G A rs28936679 AANAT Nonsynonymous SNV A129T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.475 317255 chr17 78084779 78084779 G A GAA Nonsynonymous SNV D531N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.531 317256 chr18 72173207 72173207 G - CNDP2 G110Afs*32 0 0 0.003 0 0 0 0 1 0 0 0 0 317257 chr18 77208981 77208981 C G NFATC1 Nonsynonymous SNV A57G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 317258 chr3 183951031 183951031 G A VWA5B2 Nonsynonymous SNV A126T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 317259 chr14 65242120 65242120 G C SPTB Nonsynonymous SNV T1522R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 317260 chr3 185905998 185905998 G A rs779153569 DGKG Synonymous SNV C671C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 317261 chr3 186256648 186256648 C T rs570966753 CRYGS Nonsynonymous SNV R125Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 317262 chr19 1056227 1056227 T C rs111322482 ABCA7 Synonymous SNV A1467A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.11 317263 chr19 1056421 1056421 G A rs113711363 ABCA7 Synonymous SNV P1503P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 7.602 317264 chr14 71413638 71413638 C T rs765733054 PCNX1 Nonsynonymous SNV P54S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 317265 chr18 24127835 24127835 G C rs138966931 KCTD1 Synonymous SNV L222L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.92 317266 chr18 29046607 29046607 T G rs149262687 DSG3 Nonsynonymous SNV V509G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 317267 chr19 12985541 12985541 G A rs751768565 MAST1 Nonsynonymous SNV V1524M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 317268 chr18 43496501 43496501 G A rs199524137 EPG5 Nonsynonymous SNV P1096S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 317269 chr14 88459790 88459790 G A GALC Synonymous SNV D18D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.459 317270 chr18 49088537 49088537 G A rs774382696 LINC01630 0 0 0.003 0 0 0 0 1 0 0 0 0 8.671 317271 chr19 15587316 15587316 C T PGLYRP2 Nonsynonymous SNV M55I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.09 317272 chr18 52556513 52556513 A G RAB27B Nonsynonymous SNV T176A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 317273 chr14 94962871 94962871 T G rs759753080 SERPINA12 Nonsynonymous SNV Q248H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.27 317274 chr18 61260106 61260106 G A rs753451571 SERPINB13 Nonsynonymous SNV E134K 0 0 0.007 0 0 0 0 2 0 0 0 0 23.6 317275 chr14 95081240 95081240 G A rs763196019 SERPINA3 Synonymous SNV T154T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.595 317276 chr14 99723988 99723988 C T rs115163662 BCL11B Nonsynonymous SNV G82S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 317277 chr15 77287789 77287789 G A rs2458253 PSTPIP1 Nonsynonymous SNV G24S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.06 317278 chr18 70417305 70417305 G T rs770864798 NETO1 Synonymous SNV A511A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 317279 chr18 72921005 72921005 C T rs750149615 ZADH2 Synonymous SNV R3R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.4 317280 chr18 74208443 74208443 G C C18orf65 Nonsynonymous SNV R96P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 317281 chr15 27271905 27271905 A G rs35597430 GABRG3 Synonymous SNV K69K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.691 317282 chr15 83335657 83335657 C T rs369082256 AP3B2 Nonsynonymous SNV S533N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.51 317283 chr4 15005205 15005205 C T CPEB2 Nonsynonymous SNV S303F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 317284 chr14 81227808 81227808 G C rs150745114 CEP128 Nonsynonymous SNV F842L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 317285 chr19 10664922 10664922 T G rs145455731 KRI1 Nonsynonymous SNV Q606P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 317286 chr15 78913070 78913070 - CAG CHRNA3 L23_S24insL 0.001 0 0 0 1 0 0 0 0 0 0 0 317287 chr15 65621828 65621828 C T rs140821348 IGDCC3 Nonsynonymous SNV R702Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 317288 chr19 1231033 1231033 A - rs771515759 CBARP R408Gfs*120 0.001 0 0.003 0 1 0 0 1 0 0 0 0 317289 chr19 36504253 36504253 A G rs1014118569 ALKBH6 Nonsynonymous SNV V44A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 317290 chr19 14001062 14001062 C T C19orf57 Nonsynonymous SNV A85T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 317291 chr4 54373613 54373613 T C rs141603317 LNX1 Nonsynonymous SNV I120V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 317292 chr19 15079245 15079245 T C rs749871773 SLC1A6 Nonsynonymous SNV I140V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 317293 chr15 99452037 99452037 C T rs375300684 IGF1R Synonymous SNV S457S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.168 317294 chr15 45491159 45491159 C G rs777703506 SHF Synonymous SNV L38L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.178 317295 chr4 73935357 73935357 G A rs187930178 COX18 Nonsynonymous SNV R4W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 317296 chr15 89867387 89867387 C T rs200257554 POLG Nonsynonymous SNV G674D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.819 317297 chr4 74459168 74459168 C G rs376332028 RASSF6 Nonsynonymous SNV G84A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.1 317298 chr15 62299648 62299648 T C VPS13C Synonymous SNV E340E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.924 317299 chr15 62944278 62944278 G T rs753494243 TLN2 Nonsynonymous SNV M103I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 317300 chr19 44153044 44153044 A G rs140046361 PLAUR X291Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 317301 chr19 44777686 44777686 C A rs183103711 ZNF233 Stop gain Y291X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317302 chr15 69320664 69320664 T A rs112069106 NOX5 Nonsynonymous SNV M95K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.74 317303 chr19 33288656 33288656 G A rs565199072 TDRD12 Nonsynonymous SNV V497M 0 0 0.003 0 0 0 0 1 0 0 0 0 25 317304 chr15 72581809 72581809 C T CELF6 Nonsynonymous SNV G148S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.52 317305 chr19 45853679 45853679 C T rs376199766 KLC3 Synonymous SNV P408P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 317306 chr19 46314016 46314016 G A rs369180802 RSPH6A Nonsynonymous SNV R245C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317307 chr19 36211568 36211568 C T KMT2B Nonsynonymous SNV P440L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.737 317308 chr19 36221723 36221723 G A KMT2B Nonsynonymous SNV A1798T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 317309 chr15 81294686 81294686 C G rs201308091 TLNRD1 Nonsynonymous SNV A25G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.88 317310 chr16 1487939 1487939 C T CCDC154 Nonsynonymous SNV R390Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.519 317311 chr15 83689464 83689464 G A BTBD1 Nonsynonymous SNV S369F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317312 chr4 134073617 134073617 A T PCDH10 Nonsynonymous SNV Q774H 0.002 0.003 0 0 2 1 0 0 0 0 0 0 15.09 317313 chr4 141578905 141578905 G A rs141110483 TBC1D9 Synonymous SNV Y661Y 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 3.065 317314 chr19 3980918 3980918 G A EEF2 Synonymous SNV H357H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.461 317315 chr19 39959402 39959402 G A rs140361350 SUPT5H Synonymous SNV L344L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 317316 chr19 40433421 40433421 A T rs754672117 FCGBP Nonsynonymous SNV I283N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.159 317317 chr19 40434061 40434061 G A rs753918297 FCGBP Nonsynonymous SNV L70F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 317318 chr15 69709783 69709783 A G rs192879947 KIF23 Nonsynonymous SNV N48S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.068 317319 chr4 169138173 169138173 G A rs766821714 DDX60 Nonsynonymous SNV R1684C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 317320 chr16 24950835 24950835 G A rs140685431 ARHGAP17 Nonsynonymous SNV P525L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317321 chr19 42560873 42560873 G A rs760885650 GRIK5 Nonsynonymous SNV R282C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317322 chr15 93198639 93198639 A T FAM174B Nonsynonymous SNV L84H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 317323 chr19 42860152 42860152 A T rs748037792 MEGF8 Nonsynonymous SNV N1396Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 317324 chr4 169799233 169799233 C G rs587780757 PALLD Nonsynonymous SNV A64G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.331 317325 chr16 48249113 48249113 A G rs776842435 ABCC11 Nonsynonymous SNV I365T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 317326 chr4 186188192 186188192 C G rs371336554 SNX25 Nonsynonymous SNV A161G 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 317327 chr16 31143412 31143412 G C rs563382899 PRSS8 Nonsynonymous SNV A317G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.128 317328 chr19 56717609 56717609 G A ZSCAN5C Synonymous SNV V109V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.672 317329 chr19 56953723 56953723 G T ZNF667 Nonsynonymous SNV T214N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 317330 chr19 57060340 57060340 G C rs149162485 ZFP28 Synonymous SNV V179V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.81 317331 chr19 50063222 50063222 A T NOSIP Nonsynonymous SNV S49T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.784 317332 chr16 66946192 66946192 G A rs200694058 CDH16 Synonymous SNV L404L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.171 317333 chr16 68405767 68405767 G A rs768055037 SMPD3 Synonymous SNV A106A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.7 317334 chr19 51917748 51917748 G A rs139586458 SIGLEC10 Nonsynonymous SNV T303M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 317335 chr5 61923226 61923226 G T rs140596246 IPO11-LRRC70 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 317336 chr16 88779260 88779260 G C rs149733765 CTU2 Synonymous SNV L141L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.889 317337 chr16 3614028 3614028 C A rs772184817 NLRC3 Stop gain E304X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317338 chr16 424227 424227 G A PGAP6 Synonymous SNV F583F 0.001 0 0 0 1 0 0 0 0 0 0 0 9.877 317339 chr16 88807761 88807761 T G rs765492370 LOC100289580 0.001 0 0 0 1 0 0 0 0 0 0 0 3.991 317340 chr16 4790599 4790599 C T rs7202010 C16orf71 Nonsynonymous SNV A241V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.36 317341 chr16 4794957 4794957 C T rs61231109 C16orf71 Nonsynonymous SNV R330W 0.001 0 0 0 1 0 0 0 0 0 0 0 7.189 317342 chr16 4794958 4794958 G T rs57622760 C16orf71 Nonsynonymous SNV R330L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.866 317343 chr16 87678384 87678384 C A rs142274475 JPH3 Synonymous SNV G301G 0.002 0.003 0 0 2 1 0 0 0 0 0 0 11.05 317344 chr16 89341540 89341540 G A rs372665809 ANKRD11 Synonymous SNV A2510A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.697 317345 chr16 88502830 88502830 G A rs1018297318 ZNF469 Synonymous SNV P2984P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 317346 chr17 10206573 10206573 C T rs367784389 MYH13 Synonymous SNV Q1869Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.99 317347 chr19 54848763 54848763 C G LILRA4 Nonsynonymous SNV R287P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.792 317348 chr19 54848776 54848776 T C rs769780480 LILRA4 Nonsynonymous SNV S283G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317349 chr16 54967474 54967474 G A rs377649301 IRX5 Nonsynonymous SNV A380T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.44 317350 chr16 84228703 84228703 C T rs751176857 ADAD2 Synonymous SNV C212C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.596 317351 chr16 84514235 84514235 G A rs148516272 MEAK7 Nonsynonymous SNV T386M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 317352 chr19 55752646 55752646 C T rs376910911 PPP6R1 Synonymous SNV T374T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 317353 chr1 100368285 100368285 T C rs779439947 AGL Nonsynonymous SNV M1212T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 317354 chr16 58030595 58030595 C T rs138568536 ZNF319 Synonymous SNV Q525Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 317355 chr16 58199576 58199576 A G rs764961830 CSNK2A2 Synonymous SNV S288S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.302 317356 chr16 69148626 69148626 T C HAS3 Synonymous SNV H373H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.288 317357 chr16 767154 767154 C T rs774106811 METRN Nonsynonymous SNV R217C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 317358 chr5 75490761 75490761 G A rs756287728 SV2C Nonsynonymous SNV G200R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 317359 chr19 59022871 59022871 C T rs752301452 SLC27A5 Nonsynonymous SNV R151Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 317360 chr17 27890052 27890052 G A rs754905589 ABHD15 Nonsynonymous SNV R312C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 317361 chr5 135388690 135388690 G C TGFBI Nonsynonymous SNV E336D 0.002 0 0 0 2 0 0 0 0 0 0 0 15.83 317362 chr19 7516071 7516071 G T rs368588291 ARHGEF18 Nonsynonymous SNV V350L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 317363 chr1 145558835 145558835 G A rs138703494 ANKRD35 Nonsynonymous SNV D62N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 317364 chr1 145747225 145747225 T C rs782040242 PDZK1 Nonsynonymous SNV V61A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.109 317365 chr17 3495494 3495494 C T TRPV1 Nonsynonymous SNV G51R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 317366 chr5 140754353 140754353 G A PCDHGA6 Nonsynonymous SNV V235M 0.002 0 0 0 2 0 0 0 0 0 0 0 16.31 317367 chr16 715983 715983 T C WDR90 Nonsynonymous SNV C1490R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 317368 chr1 151992736 151992736 A G rs535111218 NBPF18P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.928 317369 chr17 2226520 2226520 A C SRR Nonsynonymous SNV N80H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.832 317370 chr16 780545 780545 C T rs144802616 CIAO3 Nonsynonymous SNV A435T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.31 317371 chr5 121518303 121518303 A G LOC100505841 Nonsynonymous SNV H111R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.51 317372 chr19 9237604 9237604 T C rs200480653 OR7G3 Nonsynonymous SNV D8G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317373 chr19 9639341 9639341 G A rs201821474 ZNF426 Synonymous SNV S422S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.485 317374 chr16 84127330 84127330 C A MBTPS1 Nonsynonymous SNV R241L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 317375 chr5 150901410 150901410 C A FAT2 Nonsynonymous SNV A3582S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.006 317376 chr5 134223868 134223868 C T rs747681836 TXNDC15 Nonsynonymous SNV S128L 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 317377 chr1 158390481 158390481 A C rs771298904 OR10K2 Nonsynonymous SNV M59R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 317378 chr17 35300219 35300219 A T LHX1 Nonsynonymous SNV S338C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 317379 chr5 137485477 137485477 G A BRD8 Stop gain Q1044X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 317380 chr5 140011885 140011885 C T rs760585833 CD14 Synonymous SNV A228A 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 317381 chr1 111061189 111061189 G - rs771302509 KCNA10 P74Qfs*8 0 0 0.007 0 0 0 0 2 0 0 0 0 317382 chr1 114397636 114397636 A G rs199570322 PTPN22 Synonymous SNV N168N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.964 317383 chr1 115218150 115218150 C A AMPD1 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 317384 chr5 140790143 140790143 C T rs533810160 PCDHGB6 Nonsynonymous SNV H792Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.9 317385 chr1 11808567 11808567 C T rs751340806 AGTRAP Nonsynonymous SNV R77C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 317386 chr1 12061461 12061461 C T rs762440627 MFN2 Nonsynonymous SNV R274W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317387 chr17 26910923 26910923 G A rs780067084 SPAG5 Nonsynonymous SNV R832W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 317388 chr1 175052918 175052918 G T TNN Nonsynonymous SNV D361Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 317389 chr1 152328720 152328720 T C rs760346168 FLG2 Synonymous SNV Q514Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 317390 chr17 47247085 47247085 G A rs199908433 B4GALNT2 Nonsynonymous SNV A506T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 317391 chr1 153947281 153947281 T C rs770610777 JTB Synonymous SNV L105L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.93 317392 chr6 11188458 11188458 T C rs112742585 NEDD9 Nonsynonymous SNV H514R 0.002 0 0 0 2 0 0 0 0 0 0 0 13.14 317393 chr17 5461726 5461726 C G rs140677797 NLRP1 Nonsynonymous SNV V764L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.65 317394 chr6 16328481 16328481 C T rs774113311 ATXN1 Nonsynonymous SNV A21T 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 317395 chr6 24843495 24843495 T C rs151067857 RIPOR2 Synonymous SNV P484P 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.298 317396 chr6 24843550 24843550 C T rs142328958 RIPOR2 Nonsynonymous SNV R466K 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.391 317397 chr17 39116542 39116542 G A rs762707953 KRT39 Nonsynonymous SNV S403L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.16 317398 chr1 19549174 19549174 A T rs377010214 EMC1 Nonsynonymous SNV I822N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 317399 chr17 3955276 3955276 T C rs375457144 ZZEF1 Synonymous SNV K1863K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.163 317400 chr6 33653506 33653506 C T rs139957730 ITPR3 Nonsynonymous SNV R1857C 0.002 0 0 0 2 0 0 0 0 0 0 0 24.3 317401 chr1 160326883 160326883 G A rs202152188 NCSTN Nonsynonymous SNV R478Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 317402 chr1 160650888 160650888 C T CD48 Stop gain W252X 0 0 0.003 0 0 0 0 1 0 0 0 0 4.913 317403 chr6 35454341 35454341 G A rs200574053 TEAD3 Synonymous SNV G33G 0.002 0 0 0 2 0 0 0 0 0 0 0 9.831 317404 chr1 161135152 161135152 C T rs778205345 USP21 Nonsynonymous SNV S567F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 317405 chr1 161310429 161310429 T C SDHC Synonymous SNV G22G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.489 317406 chr17 57287574 57287574 C T SMG8 Synonymous SNV G54G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.496 317407 chr6 7580242 7580242 C T DSP Synonymous SNV N1273N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.09 317408 chr1 166819257 166819257 G A rs201142996 POGK Nonsynonymous SNV V363M 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 317409 chr1 20982615 20982615 C A rs781007641 DDOST Nonsynonymous SNV V128L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.4 317410 chr6 43488709 43488709 C G rs371479150 POLR1C Nonsynonymous SNV T282S 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 24.3 317411 chr1 172417628 172417628 T C rs150713000 C1orf105 Nonsynonymous SNV M52T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.783 317412 chr1 17331230 17331230 G A rs774684946 ATP13A2 Nonsynonymous SNV T145M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 317413 chr17 47780272 47780272 G A rs768486485 SLC35B1 Synonymous SNV F221F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 317414 chr17 7701080 7701080 T C DNAH2 Synonymous SNV N2721N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 317415 chr6 56482902 56482902 G C rs148856756 DST Nonsynonymous SNV T1977R 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 3.588 317416 chr1 18807521 18807521 C A rs140809384 KLHDC7A Nonsynonymous SNV Q16K 0 0 0.003 0 0 0 0 1 0 0 0 0 27 317417 chr17 56439906 56439906 G A rs763974538 RNF43 Nonsynonymous SNV P102L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317418 chr1 227842155 227842155 A C rs138801672 ZNF678 Nonsynonymous SNV K92N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 317419 chr17 7840546 7840546 G A rs536204903 CNTROB Nonsynonymous SNV S298N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 317420 chr1 228404948 228404948 G A rs530344336 OBSCN Nonsynonymous SNV R871H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.67 317421 chr1 231471804 231471804 A G EXOC8 Nonsynonymous SNV I563T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 317422 chr1 201489254 201489254 A G rs926313981 RPS10P7 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 317423 chr17 46873504 46873504 T A TTLL6 Nonsynonymous SNV D306V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 317424 chr6 109802789 109802789 C T ZBTB24 Synonymous SNV V147V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.29 317425 chr6 111280020 111280020 G A rs762711711 GTF3C6 Synonymous SNV E16E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.965 317426 chr17 80194587 80194587 A T rs780015175 MIR6787 0.001 0 0 0 1 0 0 0 0 0 0 0 3.451 317427 chr17 80579527 80579527 T G rs370464024 WDR45B Synonymous SNV A192A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.255 317428 chr18 21098910 21098910 C G RMC1 Nonsynonymous SNV T80R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 317429 chr17 73836397 73836397 C T rs772621834 UNC13D Nonsynonymous SNV R256Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 317430 chr6 133014383 133014383 G A VNN1 Synonymous SNV T202T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.596 317431 chr6 133827315 133827315 G T rs762982137 EYA4 Nonsynonymous SNV L367F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.3 317432 chr18 21892013 21892013 C T OSBPL1A Nonsynonymous SNV D343N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 317433 chr6 138754685 138754685 G A rs931145541 NHSL1 Nonsynonymous SNV T270M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317434 chr1 26608928 26608928 C T rs370678825 UBXN11 Synonymous SNV P355P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 317435 chr1 28858836 28858836 C T rs772755509 RCC1 Nonsynonymous SNV R139C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 317436 chr1 228003900 228003900 C T rs775851463 PRSS38 Synonymous SNV G86G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 317437 chr1 228645146 228645146 G A rs572695254 HIST3H2A Nonsynonymous SNV H125Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.05 317438 chr6 160494351 160494351 C T rs960754202 IGF2R Synonymous SNV P1599P 0.002 0 0 0 2 0 0 0 0 0 0 0 15.36 317439 chr18 77624130 77624130 C A rs748144545 KCNG2 Synonymous SNV R155R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 317440 chr1 39877845 39877845 C T KIAA0754 Synonymous SNV C636C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.408 317441 chr19 10225242 10225246 CTCTA - rs759936789 P2RY11, PPAN-P2RY11 L320Hfs*42 0.001 0 0 0 1 0 0 0 0 0 0 0 317442 chr17 73501069 73501069 G A rs370216413 CASKIN2 Nonsynonymous SNV P257L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 32 317443 chr1 246755190 246755190 C T rs368788986 CNST Nonsynonymous SNV P109L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 317444 chr1 247267491 247267491 C T rs777310166 ZNF669 Nonsynonymous SNV G4E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 317445 chr1 45973034 45973034 T C rs745419717 MMACHC Nonsynonymous SNV W30R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.4 317446 chr18 22805229 22805229 T C rs200572998 ZNF521 Nonsynonymous SNV M665V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 317447 chr7 6193457 6193457 G C rs566475833 USP42 Nonsynonymous SNV E758Q 0.002 0 0 0 2 0 0 0 0 0 0 0 6.382 317448 chr19 13264371 13264371 G A IER2 Nonsynonymous SNV S124N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.1 317449 chr18 44579396 44579396 G T KATNAL2 Nonsynonymous SNV V18F 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 317450 chr19 15221007 15221007 G C SYDE1 Nonsynonymous SNV G241A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.213 317451 chr19 15228749 15228749 G C rs142150131 ILVBL Nonsynonymous SNV R377G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 317452 chr1 28661167 28661167 T C MED18 Nonsynonymous SNV C105R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.86 317453 chr1 74833626 74833626 G A rs760453042 FPGT-TNNI3K, TNNI3K Synonymous SNV G433G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 317454 chr19 1650219 1650219 A G TCF3 Nonsynonymous SNV V10A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 317455 chr18 5891436 5891436 G A rs369332908 TMEM200C Synonymous SNV D209D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 317456 chr19 17001398 17001398 G A rs753717142 F2RL3 Nonsynonymous SNV R375Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.262 317457 chr17 79496228 79496228 G A rs369222151 FSCN2 Nonsynonymous SNV C224Y 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 317458 chr19 10543130 10543130 C T PDE4A Nonsynonymous SNV P7L 0.002 0 0 0 2 0 0 0 0 0 0 0 13.1 317459 chr19 16688235 16688235 G C rs567636032 MED26 Nonsynonymous SNV L136V 0.002 0 0 0 2 0 0 0 0 0 0 0 5.76 317460 chr17 79660683 79660683 G C rs747949442 HGS 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 317461 chr7 48317954 48317954 T C ABCA13 Nonsynonymous SNV V2388A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 317462 chr1 44137327 44137327 A G rs201339111 KDM4A Synonymous SNV K505K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 317463 chr20 10030524 10030524 G C rs371943189 ANKEF1 Nonsynonymous SNV C436S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 317464 chr19 23926511 23926511 C G rs771143465 ZNF681 Nonsynonymous SNV G614A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 317465 chr19 23927089 23927089 G T rs771968381 ZNF681 Synonymous SNV P421P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 317466 chr1 55247141 55247141 G A rs755754613 TTC22 Synonymous SNV R495R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 317467 chr20 19955585 19955585 - GC RIN2 Frameshift insertion S306Cfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 317468 chr20 19955597 19955598 AG - RIN2 R310Afs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 317469 chr20 20177264 20177264 C T rs771466480 CFAP61 Synonymous SNV F547F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 317470 chr19 16940679 16940679 G C SIN3B Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 317471 chr19 33372871 33372871 G A rs774431168 CEP89 Synonymous SNV L672L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 317472 chr18 46808422 46808422 T C rs992736907 DYM Nonsynonymous SNV H356R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 317473 chr7 99453311 99453311 G A rs375460552 CYP3A43 Nonsynonymous SNV M146I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 317474 chr7 99755871 99755871 C G rs755996232 MAP11 Synonymous SNV S84S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 317475 chr19 13054393 13054393 G A rs530463916 CALR Nonsynonymous SNV D335N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 317476 chr20 34053894 34053894 G A rs377314862 CEP250 Synonymous SNV Q119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.28 317477 chr19 36497654 36497654 G A rs771897813 SYNE4 Synonymous SNV L206L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.2 317478 chr19 15568207 15568207 A G rs780541443 RASAL3 Nonsynonymous SNV Y443H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 317479 chr7 100550376 100550376 C G rs764198010 MUC3A Synonymous SNV T319T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.324 317480 chr19 16925937 16925937 C T rs149016205 NWD1 Stop gain R1292X 0.001 0 0 0 1 0 0 0 0 0 0 0 16.07 317481 chr19 17373603 17373603 C T rs757669113 USHBP1 Nonsynonymous SNV A70T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 317482 chr19 39978797 39978797 C T rs756763871 TIMM50 Nonsynonymous SNV R152W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 317483 chr19 1823711 1823711 C T rs200145449 REXO1 Nonsynonymous SNV R697Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317484 chr19 33602719 33602719 G A rs76208520 GPATCH1 Nonsynonymous SNV A559T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.709 317485 chr19 2098442 2098442 T G rs143536329 IZUMO4 Nonsynonymous SNV W177G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 317486 chr19 2110213 2110213 G A rs758592640 AP3D1 Synonymous SNV N1000N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 317487 chr19 2399170 2399170 A G rs141214525 TMPRSS9 Nonsynonymous SNV I131V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.06 317488 chr19 33870575 33870575 G C rs764937623 CEBPG Nonsynonymous SNV D144H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.753 317489 chr20 2843455 2843455 C T VPS16 Synonymous SNV A402A 0 0 0.007 0 0 0 0 2 0 0 0 0 11.39 317490 chr20 33584521 33584521 G A rs774221345 MYH7B Nonsynonymous SNV A1118T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 317491 chr19 41306747 41306747 G A rs140960774 EGLN2 Synonymous SNV P90P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.014 317492 chr19 37428070 37428070 A T rs199542834 ZNF568 Nonsynonymous SNV D31V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 317493 chr20 39794190 39794190 A G rs369785655 PLCG1 Nonsynonymous SNV E537G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 317494 chr7 149480710 149480710 C T rs369060105 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 7.724 317495 chr7 149482773 149482773 C A SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 16.94 317496 chr19 46269611 46269611 G C SIX5 Nonsynonymous SNV P536A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 317497 chr19 4054300 4054300 C T ZBTB7A Nonsynonymous SNV V311M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 317498 chr20 57392748 57392748 C T MIR296 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 317499 chr20 58519965 58519965 A G rs144860375 FAM217B Nonsynonymous SNV I166V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.306 317500 chr19 45496095 45496095 C T rs150484293 CLPTM1 Synonymous SNV S636S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 317501 chr19 42855655 42855655 T C rs774578166 MEGF8 Nonsynonymous SNV L910P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 317502 chr19 44117832 44117832 A C rs1007341510 SRRM5 Nonsynonymous SNV D520A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 317503 chr20 941032 941032 C T RSPO4 Nonsynonymous SNV V163M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 317504 chr22 31479282 31479282 C T rs150120759 SMTN Nonsynonymous SNV A67V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 317505 chr22 32058153 32058153 G A rs142790252 PISD Synonymous SNV H14H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.946 317506 chr21 17566806 17566806 A G rs148215361 MIR99AHG 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 317507 chr19 38103754 38103754 T C rs138665562 ZNF540 Nonsynonymous SNV C493R 0.001 0 0 0 1 0 0 0 0 0 0 0 27 317508 chr22 41610005 41610005 A G L3MBTL2 Nonsynonymous SNV K124R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.99 317509 chr8 37692866 37692866 C T ADGRA2 Nonsynonymous SNV R595C 0.002 0 0 0 2 0 0 0 0 0 0 0 35 317510 chr21 43528487 43528487 G A rs373973203 UMODL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.204 317511 chr19 49132315 49132315 A T rs745582389 SPHK2 Nonsynonymous SNV H381L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 317512 chr19 49422499 49422499 T - NUCB1 S320Pfs*28 0.001 0 0 0 1 0 0 0 0 0 0 0 317513 chr19 42791056 42791056 C T rs375854460 CIC Synonymous SNV A67A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 317514 chr8 54142201 54142201 G A rs762806781 OPRK1 Nonsynonymous SNV R267C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 317515 chr8 55541530 55541530 C T rs990827678 RP1 Synonymous SNV F1696F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 317516 chr8 55542679 55542679 A G RP1 Synonymous SNV S2079S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 317517 chr8 59410884 59410884 A G rs60059260 CYP7A1 Synonymous SNV Y75Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.048 317518 chr21 46359563 46359563 A G rs9976000 LINC01547 0 0 0.003 0 0 0 0 1 0 0 0 0 3.761 317519 chr21 47648352 47648352 T C LSS Nonsynonymous SNV D59G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 317520 chr19 4306321 4306321 C T rs772719863 FSD1 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 317521 chr19 51483053 51483053 G A rs185241384 KLK7 Synonymous SNV N127N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 317522 chr19 4491571 4491571 C T rs756161384 HDGFL2 Synonymous SNV V166V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.381 317523 chr22 24621351 24621351 G A rs143616956 GGT5 Synonymous SNV P379P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.705 317524 chr19 6422383 6422383 A G KHSRP Nonsynonymous SNV F105S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 317525 chr2 136680363 136680363 T C rs60318326 DARS Nonsynonymous SNV I168V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.95 317526 chr22 29706705 29706705 G A rs199615680 GAS2L1 Synonymous SNV P273P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 317527 chr22 30198181 30198181 G A rs750937631 ASCC2 Nonsynonymous SNV A279V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 317528 chr8 80915295 80915295 G T MRPS28 Nonsynonymous SNV L112M 0 0 0 1 0 0 0.003 0 0 0 0 0 29.2 317529 chr22 30572072 30572072 G T HORMAD2 Synonymous SNV V192V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.933 317530 chr22 30771524 30771524 G A rs745516237 CCDC157 Nonsynonymous SNV V577I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 317531 chr8 95183137 95183137 T A CDH17 Nonsynonymous SNV D287V 0 0 0 1 0 0 0.003 0 0 0 0 0 31 317532 chr2 160755406 160755406 C A rs765949228 LY75, LY75-CD302 Nonsynonymous SNV D87Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 317533 chr8 143808858 143808858 C G THEM6 Nonsynonymous SNV L32V 0.002 0 0 0 2 0 0 0 0 0 0 0 10.27 317534 chr19 6732381 6732381 C T rs371747238 GPR108 Nonsynonymous SNV A340T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 317535 chr22 37466602 37466602 C T rs199585607 TMPRSS6 Nonsynonymous SNV R588Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26 317536 chr22 37770125 37770125 C T rs140163106 ELFN2 Nonsynonymous SNV A484T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.56 317537 chr8 144990749 144990749 G A rs200447944 PLEC Nonsynonymous SNV R4400C 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.2 317538 chr19 5664090 5664090 T G SAFB Nonsynonymous SNV H579Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 317539 chr8 146157932 146157932 C T rs757570572 ZNF16 Nonsynonymous SNV D81N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.93 317540 chr22 44696776 44696776 G A rs751550199 SHISAL1 Nonsynonymous SNV S17L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 317541 chr9 5765709 5765709 C T rs144383338 RIC1 Synonymous SNV I979I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.29 317542 chr9 14720373 14720373 G A rs138899880 CER1 Synonymous SNV H173H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.365 317543 chr1 10687345 10687345 A G rs142285791 PEX14 Nonsynonymous SNV N201S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.87 317544 chr2 220162675 220162675 G T rs750897632 PTPRN Nonsynonymous SNV Q578K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 317545 chr2 220162676 220162676 C T rs761183499 PTPRN Synonymous SNV Q577Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 317546 chr2 135309654 135309654 C T rs755523021 TMEM163 Nonsynonymous SNV V111I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 317547 chr19 56953133 56953133 T G ZNF667 Nonsynonymous SNV K411Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 317548 chr9 98209608 98209608 G C rs769743412 PTCH1 Synonymous SNV G1258G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.972 317549 chr2 136566262 136566262 G A rs138785223 LCT Nonsynonymous SNV P1219S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 317550 chr1 10689814 10689814 G C rs759395711 PEX14 Nonsynonymous SNV V302L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 317551 chr19 7591368 7591368 G A MCOLN1 Nonsynonymous SNV R94Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 317552 chr2 178937018 178937018 T C rs34556327 PDE11A Synonymous SNV L49L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.114 317553 chr2 179410814 179410814 C T rs150930737 TTN Nonsynonymous SNV V22652I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.33 317554 chr2 25022667 25022667 G A rs201920035 CENPO Nonsynonymous SNV R51H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 317555 chr2 179454460 179454460 G T rs376455983 TTN Nonsynonymous SNV N11599K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 317556 chr2 179501145 179501145 G A rs774214497 TTN Nonsynonymous SNV T4705M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 317557 chr1 154305153 154305153 G C ATP8B2 Nonsynonymous SNV S209T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.08 317558 chr2 179577042 179577042 C T rs769097909 TTN Nonsynonymous SNV E7959K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.7 317559 chr1 155006122 155006122 A G rs753865793 DCST2 Nonsynonymous SNV M19T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 317560 chr1 156518460 156518460 C T rs771267264 IQGAP3 Nonsynonymous SNV A636T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 317561 chr1 167793962 167793962 G A rs575935741 ADCY10 Synonymous SNV I1141I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 317562 chr1 167960503 167960503 A G DCAF6 Nonsynonymous SNV Y174C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 317563 chr1 145555757 145555757 C T rs6699065 ANKRD35 Synonymous SNV R35R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 317564 chr1 14925616 14925616 C T KAZN Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 317565 chr2 20145594 20145594 T C rs751974091 WDR35 Nonsynonymous SNV M600V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 317566 chr9 131767637 131767637 C T rs755201900 NUP188 Nonsynonymous SNV P1522L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 317567 chr2 43520202 43520202 G A rs749703786 THADA Nonsynonymous SNV A1530V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.45 317568 chr1 150530079 150530079 C T rs752716704 ADAMTSL4 Synonymous SNV H719H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.639 317569 chr1 158622412 158622412 G T SPTA1 Nonsynonymous SNV R1074S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 317570 chr1 152083952 152083952 G A rs752876963 TCHH Nonsynonymous SNV R581C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 317571 chr2 21234427 21234427 G T APOB Nonsynonymous SNV D1771E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.975 317572 chr1 154574992 154574992 C T rs150322339 ADAR Synonymous SNV K42K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 317573 chr1 156909544 156909544 G C ARHGEF11 Nonsynonymous SNV P1258A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 317574 chr1 157094984 157094984 C T rs746432551 ETV3 Synonymous SNV S396S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.469 317575 chr2 231774726 231774726 G A rs374081591 GPR55 Nonsynonymous SNV R318W 0 0 0.003 0 0 0 0 1 0 0 0 0 26 317576 chr1 197070827 197070827 T C rs140248383 ASPM Synonymous SNV R2518R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.564 317577 chr2 233406204 233406204 C T rs143272752 CHRNG Synonymous SNV F157F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15 317578 chr1 161044038 161044038 G A rs773060708 NECTIN4 Nonsynonymous SNV R376W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 317579 chr1 161163754 161163754 G A rs141276844 ADAMTS4 Nonsynonymous SNV L507F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 317580 chr1 161163851 161163851 G T rs754811445 ADAMTS4 Synonymous SNV G474G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.754 317581 chr1 16261023 16261023 C T rs373713516 SPEN Nonsynonymous SNV A2763V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.284 317582 chr1 183942815 183942815 T A COLGALT2 Nonsynonymous SNV I188F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 317583 chr1 184764358 184764358 C T NIBAN1 Nonsynonymous SNV G847D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.524 317584 chr1 185056709 185056709 C T rs201683390 RNF2 Synonymous SNV N8N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 317585 chr1 185191047 185191047 T C rs753331377 SWT1 Synonymous SNV L730L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 317586 chr10 13708309 13708309 C T rs771952094 FRMD4A Nonsynonymous SNV R155H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317587 chr10 15175139 15175139 T G NMT2 Nonsynonymous SNV K172T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 317588 chr1 203186950 203186950 - AGACCATGGCCCCACCCAGTCCCT CHIT1 Stop gain W339_N447del 0.001 0 0 0 1 0 0 0 0 0 0 0 317589 chr2 241904003 241904003 G C CROCC2 Synonymous SNV G1142G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.042 317590 chr1 171292236 171292236 G A rs764211255 FMO4 Nonsynonymous SNV E76K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 317591 chr1 203452945 203452945 C A rs200698666 PRELP Synonymous SNV V211V 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 317592 chr2 33042531 33042531 A C TTC27 Synonymous SNV I722I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.775 317593 chr10 55568629 55568629 C T rs951359964 PCDH15 Synonymous SNV S1725S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.08 317594 chr10 55581796 55581796 G C rs774976789 PCDH15 Nonsynonymous SNV A1857G 0.002 0 0 0 2 0 0 0 0 0 0 0 24 317595 chr2 54024905 54024905 T C rs371252076 ERLEC1 Synonymous SNV L155L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.722 317596 chr2 6980746 6980746 C T CMPK2 Synonymous SNV G352G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.436 317597 chr1 220356236 220356236 A G RAB3GAP2 Nonsynonymous SNV L679P 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 317598 chr10 35495907 35495907 G C rs770525538 CREM Nonsynonymous SNV G37A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.18 317599 chr2 74328649 74328649 C T rs113467129 TET3 Synonymous SNV A1485A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.973 317600 chr2 74900886 74900886 T C rs1037295889 SEMA4F Synonymous SNV F218F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.599 317601 chr2 79364274 79364274 C T rs149558539 REG1CP 0 0 0.003 0 0 0 0 1 0 0 0 0 4.283 317602 chr3 155212008 155212008 T C PLCH1 Nonsynonymous SNV M690V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 317603 chr10 73822907 73822907 C T rs538567547 SPOCK2 Synonymous SNV P335P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.79 317604 chr10 74908110 74908110 C T rs755122185 ECD Nonsynonymous SNV C279Y 0.002 0 0 0 2 0 0 0 0 0 0 0 15.68 317605 chr10 75559121 75559121 A G rs75069481 ZSWIM8 Nonsynonymous SNV Y1508C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 317606 chr1 204438908 204438908 C T rs115204119 PIK3C2B Nonsynonymous SNV G8E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 317607 chr1 236721761 236721761 T C rs142913028 HEATR1 Synonymous SNV E1660E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.774 317608 chr2 98378627 98378627 A G TMEM131 Nonsynonymous SNV L1587P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 317609 chr2 98412714 98412714 A G TMEM131 Nonsynonymous SNV L1056P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 317610 chr2 99242245 99242245 T C rs146695919 MGAT4A Nonsynonymous SNV I380V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.905 317611 chr1 233802610 233802610 G C rs185527931 KCNK1 Nonsynonymous SNV D209H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 317612 chr1 234458945 234458945 C T SLC35F3 Nonsynonymous SNV P408S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 317613 chr3 112969587 112969587 G A rs769550291 BOC Nonsynonymous SNV A95T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 317614 chr1 2522437 2522437 C G MMEL1 Nonsynonymous SNV V778L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 317615 chr10 106074247 106074247 A G rs368905040 ITPRIP Synonymous SNV Y521Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.102 317616 chr1 231132885 231132885 G A rs368169867 ARV1 Nonsynonymous SNV R231H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 317617 chr1 39305234 39305234 G A rs150676565 RRAGC Synonymous SNV N363N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.99 317618 chr1 44605948 44606031 AGTGGAGGTCATCACTTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAGGTCGTCATCTGCCCTCCACAGAGGGCTTGGTTACC - rs71036667 KLF18 G425_T452del 0.001 0 0 0 1 0 0 0 0 0 0 0 317619 chr3 147114109 147114109 G A rs374775659 ZIC4 Nonsynonymous SNV A123V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 317620 chr3 49063822 49063822 A G rs368466461 IMPDH2 Nonsynonymous SNV I314T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 317621 chr3 49169569 49169569 G A LAMB2 Nonsynonymous SNV H147Y 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 317622 chr1 51777801 51777801 T C rs773469247 TTC39A Synonymous SNV Q116Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.533 317623 chr3 169574263 169574263 G A rs377072743 LRRC31 Synonymous SNV L172L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.977 317624 chr3 169940513 169940513 G T rs554225297 PRKCI Nonsynonymous SNV S19I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 317625 chr3 170584172 170584172 G C rs770542430 RPL22L1 Nonsynonymous SNV D122E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.868 317626 chr3 179593214 179593214 C T rs143237596 PEX5L Nonsynonymous SNV R127Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 317627 chr3 182681745 182681745 T C rs146499424 DCUN1D1 Nonsynonymous SNV I90V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 317628 chr3 183528150 183528150 C A YEATS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.689 317629 chr3 183976286 183976286 C T rs763608257 EEF1AKMT4 Nonsynonymous SNV P231S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.408 317630 chr3 64132596 64132596 T C PRICKLE2 Nonsynonymous SNV I524V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 317631 chr1 44057178 44057178 C T rs565567848 PTPRF Synonymous SNV G495G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.927 317632 chr1 26793688 26793688 C G rs539051194 DHDDS-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.435 317633 chr1 27099395 27099395 A T ARID1A Nonsynonymous SNV Y1211F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 317634 chr1 29631871 29631871 G A PTPRU Synonymous SNV R917R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 317635 chr4 10099424 10099424 T C WDR1 Nonsynonymous SNV S157G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 317636 chr3 38307621 38307621 C T rs9822259 SLC22A13 Synonymous SNV P90P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.598 317637 chr3 38318413 38318413 A C rs149151258 SLC22A13 Nonsynonymous SNV M453L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 317638 chr3 38349208 38349208 T C rs9873449 SLC22A14 Synonymous SNV L258L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 0.053 317639 chr4 114257132 114257132 A G rs35336373 ANK2 Synonymous SNV V346V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.31 317640 chr1 24978000 24978000 C T rs758148138 SRRM1 Nonsynonymous SNV R125W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 317641 chr1 27320389 27320389 C G TRNP1 Nonsynonymous SNV P38A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 317642 chr1 94338756 94338756 G A rs769680145 DNTTIP2 Synonymous SNV A607A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.62 317643 chr3 42560738 42560738 C T rs901188911 VIPR1 Nonsynonymous SNV L23F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 317644 chr1 27689438 27689438 G A rs141965929 MAP3K6 Nonsynonymous SNV A341V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 317645 chr4 125591058 125591058 G C ANKRD50 Nonsynonymous SNV S946C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 317646 chr3 45049055 45049055 C T rs549500671 EXOSC7 Synonymous SNV F253F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.8 317647 chr1 45271740 45271740 A G rs201414613 TCTEX1D4 Nonsynonymous SNV S201P 0.001 0 0 0 1 0 0 0 0 0 0 0 25 317648 chr20 17511621 17511621 G A BFSP1 Synonymous SNV R118R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 317649 chr20 17617301 17617301 T C RRBP1 Nonsynonymous SNV Q753R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 19.77 317650 chr1 3422087 3422087 G C rs188261325 MEGF6 Nonsynonymous SNV S651W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 317651 chr1 54252840 54252840 T G NDC1 Synonymous SNV T557T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.9 317652 chr3 50375130 50375130 G A RASSF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.819 317653 chr3 52413939 52413939 C T rs957192627 DNAH1 Stop gain R2466X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 317654 chr20 25201947 25201947 C T ENTPD6 Synonymous SNV Y123Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.682 317655 chr1 43898001 43898001 T G rs771463216 SZT2 Nonsynonymous SNV F1721C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21 317656 chr1 94643221 94643221 T C ARHGAP29 Nonsynonymous SNV E887G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 317657 chr1 46655572 46655572 C T rs772158768 POMGNT1 Nonsynonymous SNV R558Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 317658 chr3 72971476 72971476 T C rs371098866 GXYLT2 Nonsynonymous SNV L197P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 317659 chr4 187542356 187542356 C T rs56790426 FAT1 Nonsynonymous SNV R1795Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14 317660 chr1 48694553 48694553 G A rs768554187 SLC5A9 Nonsynonymous SNV G89D 0.001 0 0 0 1 0 0 0 0 0 0 0 28 317661 chr1 68944966 68944966 G A rs770782759 DEPDC1 Nonsynonymous SNV A374V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 317662 chr3 89448530 89448530 C T rs144696297 EPHA3 Synonymous SNV S498S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 317663 chr3 97591427 97591427 G T rs746446478 CRYBG3 Nonsynonymous SNV R463S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 317664 chr4 38690532 38690532 A G rs748721232 KLF3 Synonymous SNV A128A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.096 317665 chr4 100542253 100542253 A C rs780797954 MTTP Nonsynonymous SNV D820A 0 0 0.003 0 0 0 0 1 0 0 0 0 31 317666 chr1 906506 906506 G A rs777113439 PLEKHN1 Nonsynonymous SNV R221Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 317667 chr20 31238448 31238448 C G C20orf203 Nonsynonymous SNV R124T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 317668 chr20 56140619 56140619 G T PCK1 Nonsynonymous SNV R543L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 317669 chr1 74507137 74507137 T C rs748618148 LRRIQ3 Nonsynonymous SNV Y493C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 317670 chr4 5812093 5812093 A G EVC Nonsynonymous SNV K937R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 317671 chr4 62761464 62761464 T C rs189474276 ADGRL3 Nonsynonymous SNV L527P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 317672 chr4 13548473 13548473 C A LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 9.932 317673 chr11 46819382 46819382 T C CKAP5 Synonymous SNV L437L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.147 317674 chr11 47612014 47612014 C T C1QTNF4 Nonsynonymous SNV A117T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 317675 chr20 2779467 2779467 A G CPXM1 Nonsynonymous SNV L82P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.2 317676 chr4 177094474 177094474 C T rs17671639 WDR17 Synonymous SNV L1101L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 317677 chr20 3128594 3128594 T G FASTKD5 Nonsynonymous SNV K375Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 317678 chr20 10603544 10603544 A G rs757642121 SLX4IP Synonymous SNV P248P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 5.878 317679 chr20 48807750 48807750 C T CEBPB Synonymous SNV A37A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 317680 chr20 33328918 33328918 C T rs754728574 NCOA6 Synonymous SNV P1714P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 317681 chr4 187541728 187541728 A C rs200115380 FAT1 Nonsynonymous SNV I2004M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.062 317682 chr11 55579593 55579593 C T OR5L1 Synonymous SNV S217S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.729 317683 chr20 44035145 44035145 A G DBNDD2 Synonymous SNV A18A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.915 317684 chr20 47865684 47865684 C T ZNFX1 Nonsynonymous SNV E1293K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 317685 chr5 140026939 140026939 A G rs776402455 NDUFA2 Nonsynonymous SNV I37T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 317686 chr20 51872537 51872537 A G rs377415955 TSHZ2 Nonsynonymous SNV N844S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 317687 chr20 55012341 55012341 A G CASS4 Nonsynonymous SNV K53R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.363 317688 chr20 31606873 31606873 G A rs760013631 BPIFB2 Synonymous SNV S287S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 317689 chr5 140763940 140763940 G A rs916805364 PCDHGA7 Nonsynonymous SNV A492T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 317690 chr4 57797128 57797128 G T REST Nonsynonymous SNV G702W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 317691 chr4 5785407 5785407 C T rs138242443 EVC Synonymous SNV N564N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.632 317692 chr4 57899401 57899401 C G IGFBP7 Nonsynonymous SNV R221P 0 0 0.003 0 0 0 0 1 0 0 0 0 35 317693 chr11 57004380 57004380 G A APLNR Synonymous SNV A33A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.119 317694 chr21 47959851 47959851 G T DIP2A Nonsynonymous SNV E618D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 317695 chr20 60966325 60966325 C T rs779972278 CABLES2 Nonsynonymous SNV G426S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 317696 chr11 60296859 60296859 C T rs142766121 MS4A13 Nonsynonymous SNV R51C 0.003 0 0.003 0 3 0 0 1 1 0 0 0 25.3 317697 chr22 23401777 23401777 C T rs147385961 RSPH14 Nonsynonymous SNV E304K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 317698 chr5 10256251 10256251 G A rs41271093 CCT5 Synonymous SNV T117T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.79 317699 chr22 35802677 35802677 C T MCM5 Synonymous SNV R185R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.28 317700 chr20 60913650 60913650 C T rs754468916 LAMA5 Nonsynonymous SNV A498T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 317701 chr5 111756077 111756077 A G rs10036273 EPB41L4A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 1.477 317702 chr22 17447113 17447113 A C rs760414737 GAB4 Nonsynonymous SNV C236G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 317703 chr5 113698388 113698388 C T rs890128901 KCNN2 Synonymous SNV H184H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 317704 chr22 19119175 19119175 T C TSSK2 Nonsynonymous SNV I88T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 317705 chr20 61950550 61950550 A C COL20A1 Nonsynonymous SNV D935A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 317706 chr5 37061113 37061113 A T NIPBL Nonsynonymous SNV Y2618F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 317707 chr5 38950500 38950500 T C RICTOR Nonsynonymous SNV I1150M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 317708 chr20 62195671 62195671 G A rs746445489 HELZ2 Nonsynonymous SNV R933W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 317709 chr21 44293769 44293769 G A rs370450877 WDR4 Nonsynonymous SNV A63V 0.002 0 0 0 2 0 0 0 0 0 0 0 4.484 317710 chr11 67219631 67219631 C T rs774180675 GPR152 Nonsynonymous SNV E189K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 317711 chr21 45389148 45389148 C T rs368791088 AGPAT3 Synonymous SNV P166P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 317712 chr11 68772863 68772863 C T rs746826672 MRGPRF Synonymous SNV P305P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 317713 chr22 45182361 45182361 C T rs192851961 PRR5-ARHGAP8 Nonsynonymous SNV A116V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 317714 chr11 71717173 71717173 T C NUMA1 Nonsynonymous SNV N1853S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.08 317715 chr5 64956564 64956564 T C rs775193194 TRAPPC13 Nonsynonymous SNV M83T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 317716 chr21 47685884 47685884 C T rs747901017 MCM3AP Nonsynonymous SNV A996T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 317717 chr22 30768327 30768327 A G KIAA1656 0.001 0 0 0 1 0 0 0 0 0 0 0 2.194 317718 chr11 74315809 74315809 G T rs61757732 POLD3 Synonymous SNV V24V 0.002 0 0 0 2 0 0 0 0 0 0 0 11.55 317719 chr21 47879054 47879054 C G rs886862153 DIP2A Nonsynonymous SNV R4G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 317720 chr5 140967816 140967816 G A DIAPH1 Nonsynonymous SNV T40I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 317721 chr11 76853753 76853753 A G MYO7A 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 24.6 317722 chr5 148622096 148622096 G A rs144233458 ABLIM3 Nonsynonymous SNV R354Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.82 317723 chr5 148989252 148989252 C T rs367808249 ARHGEF37 Nonsynonymous SNV A151V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 317724 chr5 9224978 9224978 G A rs148039312 SEMA5A Nonsynonymous SNV H152Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 317725 chr5 158630629 158630629 - T rs762761147 RNF145 Frameshift insertion N29Kfs*44 0 0 0.003 0 0 0 0 1 0 0 0 0 317726 chr5 16794779 16794779 T C rs199891195 MYO10 Nonsynonymous SNV H148R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.196 317727 chr5 176396238 176396238 C T UIMC1 Nonsynonymous SNV G173E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 317728 chr22 35812753 35812753 G A rs4645796 MCM5 Synonymous SNV S512S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 317729 chr22 20102855 20102855 G A rs141710957 TRMT2A Nonsynonymous SNV P275L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 317730 chr22 37159996 37159996 C T rs576803886 IFT27 Nonsynonymous SNV A107T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.1 317731 chr22 38035839 38035839 G A rs372881744 SH3BP1 Synonymous SNV T15T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.35 317732 chr11 123810393 123810393 C T rs373579235 OR4D5 Nonsynonymous SNV R24W 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 317733 chr22 42415421 42415421 C T rs748401003 WBP2NL Nonsynonymous SNV R57W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 317734 chr11 124757329 124757329 T C rs767666874 ROBO4 Nonsynonymous SNV E563G 0.002 0 0 0 2 0 0 0 0 0 0 0 11.34 317735 chr11 124757360 124757360 G T rs149262190 ROBO4 Nonsynonymous SNV L553M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 317736 chr11 124789743 124789745 AGG - rs527377754 HEPN1 R35del 0.002 0 0 0 2 0 0 0 0 0 0 0 317737 chr2 162087522 162087522 A G TANK Synonymous SNV T187T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 317738 chr2 166810197 166810197 T C rs375721812 TTC21B Nonsynonymous SNV K7E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.63 317739 chr11 125788592 125788592 G A rs767539305 DDX25 Nonsynonymous SNV G256R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 317740 chr5 64483962 64483962 C T rs562513614 ADAMTS6 Nonsynonymous SNV G931R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 317741 chr12 1346004 1346004 T C rs373675289 ERC1 Synonymous SNV S807S 0.002 0 0 0 2 0 0 0 0 0 0 0 9.394 317742 chr22 38370150 38370150 C T rs376907937 SOX10 Synonymous SNV S251S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.52 317743 chr22 38643893 38643893 G A rs367826250 TMEM184B Synonymous SNV S25S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 317744 chr2 179484757 179484757 C T rs200042932 TTN Nonsynonymous SNV G6398R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 317745 chr6 168479614 168479614 C T rs777425624 FRMD1 Nonsynonymous SNV R54K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 317746 chr12 6566789 6566789 C G rs141207979 TAPBPL Synonymous SNV G261G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.146 317747 chr2 10262973 10262973 G A rs150889173 RRM2 Synonymous SNV Q16Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.123 317748 chr2 135779322 135779322 T - MAP3K19 N34Ifs*52 0.001 0 0 0 1 0 0 0 0 0 0 0 317749 chr2 152128139 152128139 C T NMI 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 317750 chr6 25556946 25556946 A G rs772682048 CARMIL1 Synonymous SNV R870R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.441 317751 chr22 45939375 45939375 C T rs777982991 FBLN1 Synonymous SNV F430F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.54 317752 chr6 28134517 28134517 C T rs41269281 ZNF192P1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.44 317753 chr2 136480068 136480068 A C rs370028489 R3HDM1 Synonymous SNV R835R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.152 317754 chr6 10430211 10430211 A G rs748958286 LINC00518 0 0 0.003 0 0 0 0 1 0 0 0 0 5.391 317755 chr6 35980053 35980053 G A rs72923104 SLC26A8 Synonymous SNV D95D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 317756 chr2 152404851 152404851 C T rs199890298 NEB Nonsynonymous SNV V5009I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 317757 chr12 25158216 25158216 T C rs1038241688 LOC645177 Nonsynonymous SNV Y206H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.577 317758 chr12 25232370 25232370 C G rs753672679 LRMP Nonsynonymous SNV S37W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 317759 chr2 152476248 152476248 T A rs573693040 NEB Nonsynonymous SNV Q3287L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 317760 chr12 26220617 26220617 T A rs199895299 RASSF8 Nonsynonymous SNV I370K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 317761 chr6 12123186 12123186 A C rs146702858 HIVEP1 Nonsynonymous SNV K1053T 0 0 0.007 0 0 0 0 2 0 0 0 0 9.274 317762 chr2 169684670 169684670 G A rs915814734 NOSTRIN Nonsynonymous SNV C39Y 0.001 0 0 0 1 0 0 0 0 0 0 0 23 317763 chr6 135287498 135287498 C A rs748172292 HBS1L Nonsynonymous SNV G629V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317764 chr6 146264833 146264833 - ATC SHPRH D561_P562insD 0 0 0.007 0 0 0 0 2 0 0 0 0 317765 chr6 146276280 146276280 C T rs182151362 SHPRH Nonsynonymous SNV S60N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.617 317766 chr6 53784302 53784302 G A rs763667127 LRRC1 Synonymous SNV L371L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.684 317767 chr2 230636241 230636241 C T rs376795567 TRIP12 Synonymous SNV P1589P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 317768 chr2 179398605 179398605 C T rs372716177 TTN Nonsynonymous SNV R25181H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.8 317769 chr6 152647194 152647194 C T rs139170018 SYNE1 Nonsynonymous SNV V5042I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.15 317770 chr2 220422170 220422170 C T OBSL1 Nonsynonymous SNV G1321R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 317771 chr6 72943501 72943501 T G RIMS1 Nonsynonymous SNV D42E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 317772 chr6 157100117 157100119 GGC - rs797045268 ARID1B G357del 0 0 0.003 0 0 0 0 1 0 0 0 0 317773 chr12 53169344 53169344 A G rs140457873 KRT76 Nonsynonymous SNV W215R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 317774 chr12 53646628 53646628 G A rs138311039 MFSD5 Synonymous SNV V110V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.551 317775 chr2 186654329 186654329 C T FSIP2 Synonymous SNV D822D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.893 317776 chr2 232262679 232262679 C T rs992751419 B3GNT7 Synonymous SNV D83D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.875 317777 chr2 232325418 232325420 TCA - NCL D258del 0.001 0 0 0 1 0 0 0 0 0 0 0 317778 chr2 232325465 232325465 A G rs116104217 NCL Synonymous SNV D242D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.492 317779 chr2 186672130 186672130 A G rs781733917 FSIP2 Nonsynonymous SNV T6033A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 317780 chr6 170871222 170871222 C T rs199616061 TBP Nonsynonymous SNV P113L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 317781 chr6 17129454 17129454 G A STMND1 Nonsynonymous SNV A175T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 317782 chr6 17543187 17543187 A C rs28360582 CAP2 Synonymous SNV I262I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 317783 chr2 189863417 189863417 C T rs149093989 COL3A1 Synonymous SNV A665A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 17.81 317784 chr6 24559320 24559320 C A rs749340995 KIAA0319 Synonymous SNV V296V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.18 317785 chr2 200137117 200137117 G A rs752933023 SATB2 Synonymous SNV H673H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.582 317786 chr2 201756797 201756797 C T rs144466763 NIF3L1 Nonsynonymous SNV S44L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 317787 chr6 2948762 2948762 C T rs201754754 SERPINB6 Nonsynonymous SNV D315N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 317788 chr12 62784681 62784681 G A USP15 Nonsynonymous SNV E379K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.89 317789 chr2 220362773 220362773 G T SPEGNB Nonsynonymous SNV R193S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.43 317790 chr2 28764604 28764604 A G rs146975263 PLB1 Nonsynonymous SNV R280G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.7 317791 chr7 100685436 100685436 C G rs141602020 MUC17 Nonsynonymous SNV T3580S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 317792 chr7 100850908 100850908 G A rs74498833 PLOD3 Nonsynonymous SNV T629M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 317793 chr7 100853714 100853714 G A rs79729122 PLOD3 Synonymous SNV L504L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.423 317794 chr7 100855823 100855823 G A rs1546841 PLOD3 Synonymous SNV F331F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.999 317795 chr6 36181695 36181695 A C rs189565638 BRPF3 Nonsynonymous SNV T841P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 317796 chr2 225244518 225244518 G A rs375635395 FAM124B Synonymous SNV G380G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.771 317797 chr7 100855877 100855877 G A rs1546840 PLOD3 Synonymous SNV R313R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.217 317798 chr7 100953947 100953947 A G rs370517869 LOC101927746 0 0 0.003 0 0 0 0 1 0 0 0 0 2.409 317799 chr2 225709477 225709477 T C DOCK10 Nonsynonymous SNV N848S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 317800 chr6 36689610 36689610 G C rs763432128 RAB44 Nonsynonymous SNV G567R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 317801 chr12 86373165 86373165 G T rs947159144 MGAT4C Nonsynonymous SNV Q447K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 317802 chr2 231282355 231282355 C T SP100 Nonsynonymous SNV P28S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.542 317803 chr6 4190172 4190172 C T rs603272 LOC102724096 0 0 0.007 0 0 0 0 2 0 0 1 0 1.881 317804 chr2 218745678 218745678 G A rs769561868 TNS1 Nonsynonymous SNV L333F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 317805 chr12 98927969 98927969 A G TMPO Nonsynonymous SNV N645S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.806 317806 chr6 43146111 43146111 G A rs746430949 SRF Synonymous SNV A210A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 317807 chr6 44197395 44197395 C G rs142047670 SLC29A1 Nonsynonymous SNV Q103E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317808 chr6 44281036 44281036 C T rs537231845 AARS2 Nonsynonymous SNV A9T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.46 317809 chr7 127991221 127991221 C T rs867388733 PRRT4 Nonsynonymous SNV A797T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 317810 chr6 56535561 56535561 T G DST Synonymous SNV A153A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.235 317811 chr2 231742204 231742204 C T ITM2C Synonymous SNV F170F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 317812 chr2 71360636 71360636 A G rs146320449 MPHOSPH10 Nonsynonymous SNV D233G 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.1 317813 chr7 100486659 100486659 G A rs377635698 UFSP1 Synonymous SNV C78C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.307 317814 chr7 27192680 27192687 CCCTGGGG - rs572259871 HOXA-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 317815 chr2 55106760 55106760 A G rs191661637 EML6 Synonymous SNV E807E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.68 317816 chr2 55785943 55785943 T C rs76512669 PPP4R3B Nonsynonymous SNV T723A 0.002 0 0 0 2 0 0 0 0 0 0 0 14.77 317817 chr7 100843573 100843573 G A rs775889618 MOGAT3 Nonsynonymous SNV S77L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 317818 chr2 36787976 36787976 A G FEZ2 Synonymous SNV I312I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 317819 chr7 43548655 43548655 G A rs77786939 HECW1 Synonymous SNV S1284S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 317820 chr7 43916784 43916784 C A rs61732518 URGCP Nonsynonymous SNV A751S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 317821 chr2 25463287 25463287 G A rs761934754 DNMT3A Nonsynonymous SNV R584C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 317822 chr7 112461854 112461854 T A BMT2 Nonsynonymous SNV Q388L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 317823 chr2 43903005 43903005 T C rs752113294 C1GALT1C1L Nonsynonymous SNV K153E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.968 317824 chr2 48898756 48898756 T C rs745910842 GTF2A1L, STON1-GTF2A1L Synonymous SNV V388V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.988 317825 chr7 128480935 128480935 G A rs764751276 FLNC Nonsynonymous SNV R575Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317826 chr7 128767242 128767242 A T rs774474217 LOC407835 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 317827 chr2 27430152 27430152 G A rs750112378 SLC5A6 Nonsynonymous SNV R123C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 317828 chr2 70485395 70485395 G A rs141755592 PCYOX1 Synonymous SNV P33P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 317829 chr2 70919644 70919644 C T ADD2 Nonsynonymous SNV S215N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 317830 chr7 73246062 73246062 C T rs781860549 CLDN4 Synonymous SNV G177G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 317831 chr7 82545171 82545171 C T PCLO Nonsynonymous SNV R4044Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 317832 chr3 141162948 141162948 G C rs372805442 ZBTB38 Nonsynonymous SNV C573S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 317833 chr3 141292848 141292848 C T rs137996961 RASA2 Synonymous SNV C474C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.57 317834 chr13 114174961 114174961 G A TMCO3 Nonsynonymous SNV G355D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 317835 chr7 86468708 86468708 C T rs753853928 GRM3 Synonymous SNV Y626Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.066 317836 chr2 74754871 74754871 G A AUP1 Nonsynonymous SNV P278L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 317837 chr2 55771462 55771462 - A rs765552870 CFAP36 Frameshift insertion Q296Tfs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 317838 chr7 141921174 141921174 G A rs757777560 MGAM2 Nonsynonymous SNV G2288D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.673 317839 chr2 75347720 75347720 C T rs199842504 TACR1 Synonymous SNV P188P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.97 317840 chr2 60688699 60688699 G A BCL11A Nonsynonymous SNV P416S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 317841 chr2 98382961 98382961 C T rs759160586 TMEM131 Nonsynonymous SNV R1518Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 317842 chr2 74141895 74141895 T C rs199962888 ACTG2 Synonymous SNV S191S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.436 317843 chr14 23816045 23816045 C T rs529257313 SLC22A17 Nonsynonymous SNV V241M 0.002 0 0 0 2 0 0 0 0 0 0 0 32 317844 chr8 110984902 110984902 A G rs764525203 KCNV1 Synonymous SNV V192V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.688 317845 chr14 24771292 24771292 C T rs143592319 NOP9 Synonymous SNV R310R 0.002 0 0 0 2 0 0 0 0 0 0 0 14.04 317846 chr14 31602571 31602571 T C rs75195475 HECTD1 Synonymous SNV L1265L 0.002 0 0 0 2 0 0 0 0 0 0 0 6.389 317847 chr7 28547349 28547349 C T rs772126660 CREB5 Synonymous SNV S62S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 317848 chr7 30793531 30793531 C T rs116690173 INMT Synonymous SNV F112F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.03 317849 chr3 100541499 100541499 G A rs924075949 ABI3BP Nonsynonymous SNV R807W 0.001 0 0 0 1 0 0 0 0 0 0 0 17.51 317850 chr3 127820459 127820459 T C rs760680819 RUVBL1 Synonymous SNV K182K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.946 317851 chr3 128664417 128664417 G A KIAA1257 Synonymous SNV P294P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.545 317852 chr8 144998532 144998532 C T rs782584101 PLEC Synonymous SNV A1841A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.85 317853 chr3 150289972 150289972 A G rs748219843 EIF2A Nonsynonymous SNV K286E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 317854 chr3 25640989 25640989 T C rs781557990 TOP2B Synonymous SNV A1544A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 317855 chr7 4899769 4899769 G C rs368598482 PAPOLB Nonsynonymous SNV P558R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.663 317856 chr3 32933205 32933205 G T TRIM71 Nonsynonymous SNV G837C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 29.5 317857 chr3 155200015 155200015 T C rs377417850 PLCH1 Nonsynonymous SNV Y1267C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.194 317858 chr3 135722125 135722125 G A rs61756430 PPP2R3A Synonymous SNV L595L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.719 317859 chr7 5410464 5410464 A G rs750616662 TNRC18 Nonsynonymous SNV L1254P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 317860 chr3 159482730 159482730 G T IQCJ-SCHIP1, SCHIP1 Nonsynonymous SNV A188S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 317861 chr7 55268045 55268045 G A rs144496976 EGFR Nonsynonymous SNV R695H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 317862 chr14 77272984 77272984 C T rs767762469 ANGEL1 Synonymous SNV P385P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 317863 chr3 174814908 174814908 C T rs993923083 NAALADL2 Synonymous SNV H124H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.05 317864 chr3 178545975 178545975 C T rs767171556 KCNMB2 Synonymous SNV T79T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.45 317865 chr3 45533018 45533018 A G rs763616548 LARS2 Nonsynonymous SNV M417V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 317866 chr14 78187168 78187168 C T rs377230245 SNW1 Synonymous SNV S378S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 317867 chr8 26510793 26510793 G A rs781441381 DPYSL2 Nonsynonymous SNV V608M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 317868 chr7 83610780 83610780 A C SEMA3A Nonsynonymous SNV I503M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.55 317869 chr7 878577 878577 G A rs374767640 SUN1 Nonsynonymous SNV D74N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.846 317870 chr7 92028241 92028241 T C ANKIB1 Nonsynonymous SNV L1083P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 317871 chr3 169485744 169485744 A G ACTRT3 Synonymous SNV L199L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 317872 chr3 186968053 186968053 A G rs752775529 MASP1 Nonsynonymous SNV I359T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 317873 chr8 42176813 42176813 T C rs141839189 IKBKB Nonsynonymous SNV C462R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.42 317874 chr3 52434460 52434460 T G DNAH1 X4266E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 317875 chr8 10468316 10468316 T C rs1039300180 RP1L1 Nonsynonymous SNV S1098G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 317876 chr8 10583341 10583341 G T rs142768920 SOX7 Synonymous SNV S358S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 317877 chr8 110535018 110535018 G A rs377196836 PKHD1L1 Nonsynonymous SNV V4077M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 317878 chr8 63938749 63938749 A G rs375675000 GGH Nonsynonymous SNV V156A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 317879 chr14 105181113 105181113 G A rs956685612 INF2 Nonsynonymous SNV G1205D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 317880 chr8 73157095 73157095 C T LOC392232 0 0 0.003 0 0 0 0 1 0 0 0 0 7.875 317881 chr14 105208302 105208302 G A rs375602969 ADSS1 Nonsynonymous SNV R99H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317882 chr14 105350209 105350209 C T rs746721917 CEP170B Nonsynonymous SNV P295S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 317883 chr8 12586497 12586497 T C rs375947379 LONRF1 Synonymous SNV T630T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.509 317884 chr15 24921511 24921511 C T rs752923324 NPAP1 Nonsynonymous SNV P166L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.619 317885 chr8 99961405 99961405 G A rs776584989 OSR2 Synonymous SNV A75A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 317886 chr3 25657072 25657072 T C rs1053323931 TOP2B Synonymous SNV A1114A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.258 317887 chr3 32758723 32758723 T C CNOT10 Synonymous SNV A246A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.276 317888 chr4 106925031 106925031 C T rs745552713 LOC101929577 0.001 0 0 0 1 0 0 0 0 0 0 0 5.507 317889 chr8 145780962 145780962 C T rs748251824 ARHGAP39 Nonsynonymous SNV G193D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 317890 chr4 123336536 123336536 G A rs147371432 ADAD1 Nonsynonymous SNV D407N 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 317891 chr3 45988317 45988317 C T rs772191367 CXCR6 Nonsynonymous SNV T115M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 317892 chr8 22078983 22078983 G A rs143500575 PHYHIP Synonymous SNV V292V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.959 317893 chr8 22548543 22548543 T C rs139824831 EGR3 Nonsynonymous SNV M165V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.549 317894 chr15 62173140 62173140 G C VPS13C Nonsynonymous SNV L3221V 0.002 0 0 0 2 0 0 0 0 0 0 0 26 317895 chr9 13205913 13205913 A G rs750355280 MPDZ 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 317896 chr4 169105737 169105737 A T rs757940947 ANXA10 Nonsynonymous SNV I271F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 317897 chr15 66806391 66806391 A G ZWILCH Synonymous SNV E57E 0.002 0 0 0 2 0 0 0 0 0 0 0 7.155 317898 chr15 68434354 68434354 A G PIAS1 Synonymous SNV Q180Q 0.002 0 0 0 2 0 0 0 0 0 0 0 3.313 317899 chr3 44929287 44929287 G T rs2271087 TGM4 Nonsynonymous SNV E100D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 317900 chr3 57487047 57487047 C A DNAH12 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 317901 chr9 136595241 136595241 C T rs774000934 SARDH Synonymous SNV A253A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 317902 chr3 78683122 78683122 T A ROBO1 Synonymous SNV G1048G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.796 317903 chr4 169927962 169927962 C T CBR4 Nonsynonymous SNV C115Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 317904 chr8 59728218 59728218 C T rs771329233 TOX Synonymous SNV S357S 0 0 0.007 0 0 0 0 2 0 0 0 0 13.56 317905 chr4 25314450 25314450 G T rs748742354 ZCCHC4 Nonsynonymous SNV G7W 0.001 0 0 0 1 0 0 0 0 0 0 0 0.965 317906 chr9 102730868 102730868 G C STX17 Nonsynonymous SNV L274F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 317907 chr9 36148648 36148648 G A rs141164771 GLIPR2 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 317908 chr9 116245284 116245285 TG - rs368227112 RGS3 Y32Cfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 317909 chr9 116359072 116359072 G A rs747115652 RGS3 Nonsynonymous SNV E116K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 317910 chr4 13601502 13601502 G T rs547507252 BOD1L1 Nonsynonymous SNV S2341Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 317911 chr9 117169018 117169018 C T rs200812302 WHRN Nonsynonymous SNV G267D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 317912 chr9 96714509 96714509 G A rs375434411 BARX1 Synonymous SNV A234A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 317913 chr16 1869158 1869158 C T rs143832024 HAGH Nonsynonymous SNV V167M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 317914 chr16 3640302 3640302 C G rs772246820 SLX4 Nonsynonymous SNV G1113R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 317915 chr9 136507563 136507563 T G rs920273452 DBH Nonsynonymous SNV F241V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 317916 chrX 16168555 16168555 C T rs79667838 GRPR Nonsynonymous SNV L181F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 317917 chr16 14743734 14743734 A G rs769576141 BFAR Nonsynonymous SNV K181R 0.002 0 0 0 2 0 0 0 0 0 0 0 9.62 317918 chr5 11346669 11346669 G A rs140702980 CTNND2 Synonymous SNV A144A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 317919 chr16 15729915 15729915 T C rs766299977 MARF1 Synonymous SNV T143T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.054 317920 chr16 15761154 15761154 C T rs147283674 NDE1 Nonsynonymous SNV T32M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.6 317921 chr9 140093585 140093585 G A rs147523706 TPRN Nonsynonymous SNV R527W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 317922 chr5 126753365 126753365 C T rs141706024 MEGF10 Nonsynonymous SNV P389L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317923 chrX 54360085 54360085 G A WNK3 Nonsynonymous SNV P8S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 317924 chr9 2058296 2058296 C T rs948121970 SMARCA2 Synonymous SNV Y451Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 317925 chrX 75003741 75003741 C G MAGEE2 Nonsynonymous SNV Q382H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 317926 chr4 160274815 160274815 C T rs202214904 RAPGEF2 Nonsynonymous SNV T1262M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 317927 chr4 55155179 55155179 C T rs138519829 PDGFRA Synonymous SNV Y926Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.96 317928 chr4 56212567 56212567 C A rs778304801 SRD5A3 Nonsynonymous SNV L22M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 317929 chr9 36170747 36170747 C T rs146542592 CCIN Synonymous SNV T416T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.57 317930 chr10 101645566 101645566 T C rs758671756 DNMBP Nonsynonymous SNV S858G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 317931 chr10 105110787 105110787 C G PCGF6 Nonsynonymous SNV G13R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.14 317932 chr10 111713536 111713536 T A ADD3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 317933 chr5 137278883 137278883 C G rs780389587 FAM13B Nonsynonymous SNV R738T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 317934 chr9 79324852 79324852 C T PRUNE2 Nonsynonymous SNV E780K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 317935 chr9 85611950 85611950 G A RASEF Stop gain R633X 0 0 0.003 0 0 0 0 1 0 0 0 0 44 317936 chr9 91159402 91159402 G A rs200418094 NXNL2 Synonymous SNV G137G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.796 317937 chr10 118315537 118315537 T A PNLIP Nonsynonymous SNV N279K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 317938 chrX 100743677 100743677 G A ARMCX4 Nonsynonymous SNV S34N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 317939 chrX 102840661 102840661 G A rs190164411 TCEAL4 Nonsynonymous SNV A98T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.755 317940 chr5 140754561 140754561 C - PCDHGA6 S304Lfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 317941 chr4 8229024 8229024 G A rs774779667 SH3TC1 Nonsynonymous SNV D459N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 317942 chrX 123525995 123525995 C T rs374310338 TENM1 Synonymous SNV T1858T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 317943 chr16 81939068 81939068 C G PLCG2 Nonsynonymous SNV H475D 0.002 0 0 0 2 0 0 0 0 0 0 0 16.32 317944 chrX 129267407 129267407 G A rs143792929 AIFM1 Synonymous SNV Y104Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.309 317945 chr5 168098331 168098331 C T rs148891683 SLIT3 Synonymous SNV K1340K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 16.18 317946 chr10 134014422 134014422 G A rs147539286 DPYSL4 Nonsynonymous SNV A349T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 317947 chrX 15552365 15552365 C T rs756973630 BMX Synonymous SNV H349H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 317948 chr5 1038446 1038446 - CAC NKD2 H447_F448insH 0.002 0.003 0 0 2 1 0 0 0 0 0 0 317949 chr5 1094300 1094300 A C rs1028684726 SLC12A7 Nonsynonymous SNV F63C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.683 317950 chr5 107717279 107717279 T G rs917634131 FBXL17 Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.054 317951 chr5 114598479 114598479 G A rs768488424 PGGT1B Nonsynonymous SNV R24W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 317952 chr10 29821683 29821683 G A rs140127802 SVIL Nonsynonymous SNV S538L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 317953 chrX 48558615 48558615 G A rs782170405 SUV39H1 Nonsynonymous SNV R111Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 317954 chrX 48674918 48674918 C T rs782310288 HDAC6 Nonsynonymous SNV R557W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 317955 chr5 118582733 118582733 G A rs372163865 DMXL1 Nonsynonymous SNV S2795N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.089 317956 chr5 123982563 123982563 A G ZNF608 Nonsynonymous SNV S1172P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 317957 chrX 54956936 54956936 G A TRO Nonsynonymous SNV G791D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 317958 chr10 35338635 35338635 C T rs140997018 CUL2 Nonsynonymous SNV R161Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 317959 chrX 70342088 70342088 C T rs753714929 MED12 Synonymous SNV H380H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.943 317960 chr5 1293869 1293869 T C TERT Nonsynonymous SNV R378G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.763 317961 chr10 43597885 43597885 G A RET Nonsynonymous SNV V145I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.5 317962 chr5 132424205 132424205 A G rs774643047 HSPA4 Synonymous SNV T365T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.101 317963 chrX 78427049 78427049 C G GPR174 Nonsynonymous SNV S182C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 317964 chrX 7870051 7870051 A G PNPLA4 Synonymous SNV N116N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 317965 chr5 132150192 132150192 C G rs562266890 SOWAHA Synonymous SNV A293A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.67 317966 chr5 137627777 137627777 G A rs765926396 CDC25C Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 317967 chr5 13721137 13721137 C T rs140832239 DNAH5 Nonsynonymous SNV R4084Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.9 317968 chr10 102766714 102766714 G A rs140718760 LZTS2 Nonsynonymous SNV R380Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 317969 chr5 13754416 13754416 T A rs150532311 DNAH5 Nonsynonymous SNV H3484L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 317970 chr5 138699552 138699552 G C PAIP2 Nonsynonymous SNV D27H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 317971 chr10 103530314 103530314 C T rs375849952 FGF8 Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.83 317972 chr5 139725881 139725881 G A rs146063795 HBEGF Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 317973 chr5 139905694 139905694 G C ANKHD1, ANKHD1-EIF4EBP3 Nonsynonymous SNV V1536L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 317974 chr5 140778299 140778299 G A rs747131946 PCDHGB5 Nonsynonymous SNV R202Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.82 317975 chr5 140262123 140262123 C A PCDHA13 Synonymous SNV I90I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.72 317976 chr5 140562915 140562915 G A rs374607423 PCDHB16 Nonsynonymous SNV V261I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 317977 chr5 140579893 140579893 G A rs375833006 PCDHB11 Nonsynonymous SNV M182I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.62 317978 chr5 140682669 140682669 C T SLC25A2 Nonsynonymous SNV S255N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.528 317979 chr10 70775373 70775373 A G rs994920889 KIF1BP Nonsynonymous SNV E356G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 317980 chr5 140718799 140718799 G C PCDHGA2 Synonymous SNV A87A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.265 317981 chr5 140720948 140720948 G A PCDHGA2 Nonsynonymous SNV E804K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.484 317982 chr5 140778259 140778259 A G rs150385715 PCDHGB5 Nonsynonymous SNV S189G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.642 317983 chr17 6350926 6350926 C T rs141815168 PIMREG Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 317984 chr5 141021279 141021279 C T rs756057008 FCHSD1 Nonsynonymous SNV R666Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 317985 chr10 75301214 75301214 A G rs191976931 USP54 Synonymous SNV I248I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.036 317986 chr5 52216237 52216237 A G rs61748765 ITGA1 Nonsynonymous SNV K744R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.104 317987 chr17 7366339 7366339 - TCCTCCTCATCCTCCTCC ZBTB4 E654_S655insEEDEEE 0.001 0 0 0 1 0 0 0 0 0 0 0 317988 chr10 124742977 124742977 C T PSTK Nonsynonymous SNV S233L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 317989 chr5 14712974 14712974 C T rs771866688 LOC100130744 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.968 317990 chr17 8135122 8135122 A G CTC1 Synonymous SNV I799I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 317991 chr5 159833521 159833521 A G rs201909221 SLU7 Nonsynonymous SNV V429A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 317992 chr5 149748461 149748461 G T TCOF1 Nonsynonymous SNV K187N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 317993 chr10 134712503 134712503 C T rs907855552 CFAP46 Nonsynonymous SNV R1060K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 317994 chr10 135126329 135126329 C G rs771265081 ZNF511 Nonsynonymous SNV R240G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 317995 chr17 15848598 15848598 G T rs73274391 ADORA2B Synonymous SNV A12A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.021 317996 chr17 15848637 15848637 C T rs2228101 ADORA2B Synonymous SNV N25N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 19.75 317997 chr17 17106327 17106327 C T rs9914950 PLD6 Synonymous SNV S171S 0.002 0 0 0 2 0 0 0 0 0 0 0 18.3 317998 chr10 18823130 18823130 G A rs149793143 CACNB2 Nonsynonymous SNV V339I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.7 317999 chr10 22498269 22498269 T C rs562469933 EBLN1 Nonsynonymous SNV E215G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 318000 chr5 140071245 140071245 C G HARS2 Synonymous SNV L4L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 318001 chr5 140682740 140682740 A C SLC25A2 Nonsynonymous SNV D231E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 318002 chr5 179153686 179153686 A G rs111809764 CANX Nonsynonymous SNV K443E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 318003 chr5 179201540 179201540 C G rs61748800 MAML1 Nonsynonymous SNV P905A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.007 318004 chr11 102323255 102323255 C A rs748365799 TMEM123 Nonsynonymous SNV A34S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.78 318005 chr5 90050990 90050990 T C rs143004930 ADGRV1 Synonymous SNV V3856V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.443 318006 chr5 90086966 90086966 C T rs200685818 ADGRV1 Nonsynonymous SNV L4774F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 318007 chr11 102820917 102820917 G A rs782018679 MMP13 Nonsynonymous SNV T280M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 318008 chr17 26964940 26964940 G A rs765018771 KIAA0100 Nonsynonymous SNV S419F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 318009 chr5 35807011 35807011 A G rs757619234 SPEF2 Nonsynonymous SNV N1738S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.97 318010 chr11 10827500 10827500 C T rs200814857 EIF4G2 Nonsynonymous SNV A68T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 318011 chr10 48413780 48413780 G C GDF2 Nonsynonymous SNV P363R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 318012 chr5 36972109 36972109 A G rs377714862 NIPBL Synonymous SNV V278V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.946 318013 chr10 49667892 49667892 C T rs138486403 ARHGAP22 Nonsynonymous SNV R75Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 318014 chr5 160113200 160113200 A T ATP10B Nonsynonymous SNV M163K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 318015 chr11 111592659 111592659 C T rs755602326 SIK2 Nonsynonymous SNV L684F 0 0 0.003 0 0 0 0 1 0 0 0 0 30 318016 chr11 111796912 111796912 A C rs370615884 C11orf52 Nonsynonymous SNV T121P 0 0 0.003 0 0 0 0 1 0 0 0 0 26 318017 chr10 5138663 5138663 T C rs145911457 AKR1C3 Nonsynonymous SNV I49T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 318018 chr11 113856850 113856850 G A rs942670635 HTR3A Nonsynonymous SNV E220K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.318 318019 chr11 117265193 117265193 G A rs147802563 CEP164 Nonsynonymous SNV R918H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.8 318020 chr17 36619100 36619100 G A ARHGAP23 Synonymous SNV R89R 0.002 0 0 0 2 0 0 0 0 0 0 0 12.93 318021 chr11 118223119 118223119 C A rs200624053 CD3G Nonsynonymous SNV P162T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 318022 chr10 61413519 61413519 G A rs770089674 SLC16A9 Nonsynonymous SNV T335I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 318023 chr6 117128236 117128236 A G GPRC6A Nonsynonymous SNV I211T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 318024 chr17 38100874 38100874 T G rs527736517 LRRC3C Nonsynonymous SNV Y239D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 318025 chr10 69644860 69644860 C T SIRT1 Synonymous SNV D127D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 318026 chr5 37183285 37183285 A C CPLANE1 Nonsynonymous SNV N1666K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 318027 chr6 154360318 154360318 C A OPRM1 Nonsynonymous SNV P8H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.417 318028 chr5 70785409 70785409 A G rs144162977 BDP1 Synonymous SNV R464R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 318029 chr11 124179826 124179826 G A rs150835171 OR8D1 Synonymous SNV T279T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.979 318030 chr10 73992838 73992838 C T rs767395303 ANAPC16 Synonymous SNV I74I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 318031 chr11 126126521 126126521 T A FAM118B Synonymous SNV T252T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 318032 chr5 66492403 66492403 A G CD180 Nonsynonymous SNV S23P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.76 318033 chr11 133768559 133768559 T C rs143519910 MIR4697HG 0 0 0.003 0 0 0 0 1 0 0 0 0 6.003 318034 chr17 42143946 42143946 G A rs952428717 LSM12 Nonsynonymous SNV P4S 0.002 0 0 0 2 0 0 0 0 0 0 0 16.41 318035 chr10 96998426 96998426 G A rs772039791 PDLIM1 Synonymous SNV P234P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 318036 chr10 99025799 99025799 T C ARHGAP19 Nonsynonymous SNV E47G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 318037 chr5 35867483 35867483 C G IL7R Nonsynonymous SNV F99L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 318038 chr5 35867516 35867516 G T IL7R Nonsynonymous SNV K110N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.52 318039 chr10 99527377 99527377 C T rs148217169 SFRP5 Nonsynonymous SNV R283H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 318040 chr17 48245093 48245093 T C SGCA Nonsynonymous SNV I103T 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 25.9 318041 chr6 28116506 28116506 C G rs775912960 ZKSCAN8 Synonymous SNV L107L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 318042 chr6 109764959 109764959 C G rs999700975 SMPD2 Nonsynonymous SNV H375D 0.001 0 0 0 1 0 0 0 0 0 0 0 24 318043 chr6 119136312 119136312 T C rs752815993 MCM9 Nonsynonymous SNV D1036G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.949 318044 chr6 119297120 119297120 T C FAM184A Nonsynonymous SNV M729V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.757 318045 chr6 105563609 105563609 C T rs147469762 BVES Nonsynonymous SNV D304N 0.002 0 0 0 2 0 0 0 0 0 0 0 34 318046 chr17 63010870 63010870 T G rs2230312 GNA13 Synonymous SNV I118I 0.002 0 0 0 2 0 0 0 0 0 0 0 2.016 318047 chr11 45955583 45955583 G A rs748610955 PHF21A Nonsynonymous SNV P660L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 318048 chr17 67014602 67014602 G A ABCA9 Stop gain Q907X 0.002 0 0 0 2 0 0 0 0 0 0 0 38 318049 chr11 11348693 11348693 G A rs767044253 GALNT18 Synonymous SNV D422D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.67 318050 chr11 114182789 114182789 G A rs140310297 NNMT Nonsynonymous SNV E129K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 318051 chr11 47372887 47372887 C T rs370102200 MYBPC3 Synonymous SNV T65T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 318052 chr11 12951769 12951769 C T rs767697992 TEAD1 Nonsynonymous SNV R355C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318053 chr6 170844329 170844329 A C rs749382201 PSMB1 Synonymous SNV T235T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 318054 chr17 80156278 80156278 T G rs750705667 CCDC57 Nonsynonymous SNV D143A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 318055 chr11 56113712 56113712 C - rs780911150 OR8K1 F68Sfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 318056 chr6 75884895 75884895 G C rs201662983 COL12A1 Nonsynonymous SNV Q857E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.76 318057 chr11 561870 561870 C T rs202159972 RASSF7 Synonymous SNV V34V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 318058 chr11 19251115 19251115 G T E2F8 Nonsynonymous SNV S593R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.209 318059 chr11 20070823 20070823 C T rs185397587 NAV2-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 9.96 318060 chr18 2906984 2906984 G A rs924932930 EMILIN2 Nonsynonymous SNV A855T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 318061 chr6 159316277 159316277 G A C6orf99 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 318062 chr6 159404812 159404812 C T rs556783606 RSPH3 Nonsynonymous SNV R267H 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.6 318063 chr6 36746642 36746642 G A rs142285396 CPNE5 Synonymous SNV N207N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.41 318064 chr11 59211157 59211157 C T rs150991894 OR5A1 Synonymous SNV C172C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.286 318065 chr11 43591785 43591785 A T rs72904757 MIR670HG 0 0 0.003 0 0 0 0 1 0 0 0 0 8.537 318066 chr6 42152556 42152556 G T rs754826102 GUCA1B Nonsynonymous SNV F200L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 318067 chr11 43920997 43920997 G A rs35017547 SEC14L1P1 0 0 0.007 0 0 0 0 2 0 0 0 0 5.91 318068 chr11 46723022 46723022 C G rs147975328 ZNF408 Nonsynonymous SNV D34E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 318069 chr6 43582104 43582104 T C rs200496091 POLH Nonsynonymous SNV M527T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 318070 chr11 62300033 62300033 G A AHNAK Nonsynonymous SNV A619V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 318071 chr6 35858710 35858710 T A SRPK1 Nonsynonymous SNV D52V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 318072 chr11 4825334 4825334 G A OR52R1 Nonsynonymous SNV H93Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 318073 chr11 65009487 65009488 AT - rs763024524 SLC22A20P 0 0 0.003 0 0 0 0 1 0 0 0 0 318074 chr18 59936169 59936169 G A rs78241142 RELCH Synonymous SNV T916T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.85 318075 chr11 5011939 5011939 T C rs148591000 MMP26 Synonymous SNV N144N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.632 318076 chr7 102603997 102603997 T C rs891429133 FBXL13 Nonsynonymous SNV K236R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 318077 chr11 6588422 6588422 C T rs372100617 DNHD1 Nonsynonymous SNV R3895C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 318078 chr6 66205210 66205210 A C EYS Nonsynonymous SNV W32G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 318079 chr7 111484857 111484857 A G DOCK4 Nonsynonymous SNV S900P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.56 318080 chr11 6789861 6789861 C T rs146279135 OR2AG2 Nonsynonymous SNV A110T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 318081 chr18 76856587 76856587 A G ATP9B Nonsynonymous SNV I77M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 318082 chr11 6816272 6816272 T C rs139340528 OR6A2 Nonsynonymous SNV Y223C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 318083 chr11 55340199 55340199 C T OR4C16 Nonsynonymous SNV S199F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.968 318084 chr11 55606339 55606339 G T OR5D16 Nonsynonymous SNV G38C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 318085 chr7 129074342 129074342 G A rs771901284 STRIP2 Nonsynonymous SNV G10E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.797 318086 chr11 73020208 73020208 A C rs756911360 ARHGEF17 Synonymous SNV T175T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 318087 chr11 74952847 74952847 C T TPBGL Synonymous SNV N251N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 318088 chr11 788443 788443 G A rs781638810 CEND1 Nonsynonymous SNV P45L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 318089 chr7 149477392 149477392 C T rs377374373 SSPO 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.979 318090 chr7 150094219 150094219 G A rs747202943 ZNF775 Nonsynonymous SNV R217H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 22.4 318091 chr7 157414146 157414146 G A rs143867881 PTPRN2 Nonsynonymous SNV A713V 0.002 0 0 0 2 0 0 0 0 0 0 0 34 318092 chr7 103275895 103275895 T C rs759128344 RELN Synonymous SNV S814S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.385 318093 chr12 109660369 109660369 G A rs774642233 ACACB Nonsynonymous SNV E1208K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 318094 chr7 115889214 115889214 C T rs78197118 TES Nonsynonymous SNV P85L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 318095 chr12 11992223 11992223 C T ETV6 Stop gain R105X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 318096 chr12 121469390 121469390 G A rs774203528 OASL Nonsynonymous SNV P171L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 318097 chr7 107217933 107217933 A G DUS4L Synonymous SNV E294E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.945 318098 chr7 107706215 107706215 C A rs150810237 LAMB4 Nonsynonymous SNV G943V 0.001 0 0 0 1 0 0 0 0 0 0 0 30 318099 chr7 36194602 36194602 C A rs200242641 EEPD1 Synonymous SNV S223S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.457 318100 chr12 122862159 122862159 G A CLIP1 Nonsynonymous SNV A145V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 318101 chr7 117250608 117250608 C T rs774643457 CFTR Synonymous SNV V1008V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.02 318102 chr7 44096481 44096481 C T rs369390688 DBNL Synonymous SNV D48D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.611 318103 chr7 12396935 12396935 G A rs147978909 VWDE Nonsynonymous SNV R1046C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 318104 chr12 130647946 130647946 C A rs766910008 FZD10 Nonsynonymous SNV N153K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 318105 chr12 132625468 132625468 G A rs865843169 DDX51 Nonsynonymous SNV R450W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 318106 chr12 14577056 14577056 A G rs748052473 ATF7IP Synonymous SNV E69E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.765 318107 chr11 77340842 77340842 C A rs533606849 CLNS1A Nonsynonymous SNV E76D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 318108 chr7 73245825 73245825 C T rs141535832 CLDN4 Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.81 318109 chr12 29639877 29639877 G C rs72640147 OVCH1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 318110 chr7 74103326 74103326 C A LOC101926943 0.001 0 0 0 1 0 0 0 0 0 0 0 5.829 318111 chr11 85406318 85406318 T C rs145036285 SYTL2 Nonsynonymous SNV K243E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 318112 chr7 82763612 82763612 T G PCLO Nonsynonymous SNV Q1085P 0.002 0 0 0 2 0 0 0 0 0 0 0 8.461 318113 chr7 2290560 2290560 A T rs146088002 NUDT1 Nonsynonymous SNV K132I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 318114 chr11 94113719 94113721 TCT - rs553849482 GPR83 K247del 0 0 0.003 0 0 0 0 1 0 0 0 0 318115 chr12 50471053 50471053 C T rs774825289 ASIC1 Nonsynonymous SNV R240W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 318116 chr7 99054236 99054236 G A rs368766874 CPSF4 Nonsynonymous SNV V252M 0.001 0 0 0 1 0 0 0 0 0 0 0 4.489 318117 chr7 90042554 90042554 T G rs747247531 CLDN12 Synonymous SNV T188T 0.002 0 0 0 2 0 0 0 0 0 0 0 7.229 318118 chr12 51392983 51392983 T C rs751898404 SLC11A2 Nonsynonymous SNV I213V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 318119 chr19 32949389 32949389 A T DPY19L3 Synonymous SNV A432A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.031 318120 chr12 11061094 11061094 C T rs779686004 TAS2R13 Synonymous SNV T268T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.374 318121 chr7 1484683 1484683 G T rs185321945 MICALL2 Synonymous SNV T341T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.072 318122 chr7 47930236 47930236 T C PKD1L1 Nonsynonymous SNV Y860C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 318123 chr8 139703105 139703105 G A COL22A1 Nonsynonymous SNV H923Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.54 318124 chr19 36430774 36430774 C T rs147853211 LRFN3 Synonymous SNV G149G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.04 318125 chr12 122517073 122517073 A G MLXIP Nonsynonymous SNV Q105R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.451 318126 chr12 122691471 122691471 G A rs140444368 B3GNT4 Nonsynonymous SNV V200I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.26 318127 chr12 122702873 122702873 G A rs879608440 DIABLO Synonymous SNV T12T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 318128 chr12 123089566 123089566 T C KNTC1 Nonsynonymous SNV I1773T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 318129 chr7 30491537 30491537 C T rs377563021 NOD1 Nonsynonymous SNV R499Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 318130 chr7 55223545 55223545 C T rs182002674 EGFR Synonymous SNV H37H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 318131 chr8 144461143 144461143 G T RHPN1 Nonsynonymous SNV V216F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 318132 chr12 125453089 125453089 G C rs149331610 DHX37 Nonsynonymous SNV L467V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 24.1 318133 chr12 70297537 70297537 C T MYRFL Synonymous SNV D432D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 318134 chr12 70297568 70297568 G T MYRFL Nonsynonymous SNV V443L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 318135 chr7 48315883 48315883 A G ABCA13 Nonsynonymous SNV N2207S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 318136 chr12 71972607 71972607 C T rs73339868 LGR5 Nonsynonymous SNV S411L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.3 318137 chr12 129566498 129566498 C G rs770577561 TMEM132D Nonsynonymous SNV V577L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 318138 chr19 40421608 40421608 G A FCGBP Synonymous SNV C771C 0.002 0 0 0 2 0 0 0 0 0 0 0 3.45 318139 chr7 73790346 73790346 G A rs782522877 CLIP2 Nonsynonymous SNV A504T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 318140 chr12 16516847 16516847 C A rs200950775 MGST1 Synonymous SNV R114R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 318141 chr7 91714170 91714170 A G AKAP9 Synonymous SNV T2916T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.887 318142 chr13 103395412 103395412 T C rs772735302 CCDC168 Synonymous SNV K2545K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.125 318143 chr12 27623628 27623628 G T rs377557693 SMCO2 Stop gain E22X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318144 chr7 92979219 92979219 A G VPS50 Synonymous SNV P779P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.126 318145 chr13 113739282 113739282 A G MCF2L Nonsynonymous SNV D675G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 318146 chr12 3742848 3742848 T C rs994399405 CRACR2A Nonsynonymous SNV N553D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.93 318147 chr13 19759420 19759420 C T rs531581099 LOC101928697 0 0 0.003 0 0 0 0 1 0 0 0 0 7.849 318148 chr12 43777527 43777527 G A ADAMTS20 Nonsynonymous SNV S1544L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 318149 chr13 29608190 29608190 T C rs200233522 MTUS2 Nonsynonymous SNV S792P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.4 318150 chr8 105511633 105511633 C T rs201068227 LRP12 Synonymous SNV P110P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 318151 chr8 21960361 21960361 G A rs764428339 FAM160B2 Synonymous SNV E716E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 318152 chr8 110656413 110656413 G A LOC100132813 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 318153 chr13 32914155 32914155 A G rs80358791 BRCA2 Nonsynonymous SNV K1888R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.359 318154 chr12 50747150 50747150 C T FAM186A Synonymous SNV P1155P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 318155 chr19 49477975 49477975 G C rs142951866 GYS1 Nonsynonymous SNV P378A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 318156 chr19 49575396 49575396 G A rs142677554 KCNA7 Synonymous SNV S149S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 318157 chr8 42297125 42297125 G C rs369833460 SLC20A2 Nonsynonymous SNV S259R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.13 318158 chr19 49913048 49913048 G C rs181055769 CCDC155 Synonymous SNV L395L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.292 318159 chr12 53205601 53205601 C T rs201795280 KRT4 Nonsynonymous SNV R208H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 33 318160 chr19 50926989 50927003 CCGAGGGGAAGGGAT - SPIB G67_E71del 0.002 0 0 0 2 0 0 0 0 0 0 0 318161 chr8 69017510 69017510 A G rs756890193 PREX2 Synonymous SNV L951L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.267 318162 chr12 55356930 55356930 G T TESPA1 Nonsynonymous SNV P42Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 318163 chr8 139661990 139661990 G T rs753512465 COL22A1 Nonsynonymous SNV P1122Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 318164 chr14 101458302 101458302 T A rs182282086 SNORD114-30 0 0 0.007 0 0 0 0 2 0 0 0 0 6.438 318165 chr12 57857517 57857517 G A rs890327478 GLI1 Nonsynonymous SNV E15K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 318166 chr14 102481498 102481498 G A rs375808105 DYNC1H1 Synonymous SNV S2357S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.17 318167 chr14 102900798 102900798 T G rs72700613 TECPR2 Nonsynonymous SNV N548K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.356 318168 chr12 6161759 6161759 G A rs146468788 VWF Synonymous SNV D712D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 318169 chr8 144885645 144885645 C T rs782147678 SCRIB Nonsynonymous SNV G1171S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.339 318170 chr12 64891777 64891777 G A rs769677991 TBK1 Nonsynonymous SNV G699E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 318171 chr14 104219383 104219383 G C PPP1R13B Nonsynonymous SNV T261R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 318172 chr8 144943985 144943985 T C rs550193229 EPPK1 Nonsynonymous SNV D1146G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 318173 chr8 145057356 145057356 A C rs782383017 PARP10 Nonsynonymous SNV L813V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.05 318174 chr12 70747694 70747695 AA - CNOT2 *541* 0 0 0.003 0 0 0 0 1 0 0 0 0 318175 chr8 145948203 145948203 C T rs755185175 ZNF251 Nonsynonymous SNV R281H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 318176 chr12 7802147 7802147 C T rs12820011 APOBEC1 Nonsynonymous SNV R191K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 318177 chr9 100111454 100111456 GAA - rs750758707 CCDC180 K959del 0.001 0 0 0 1 0 0 0 0 0 0 0 318178 chr8 17612931 17612931 C T rs538513869 MTUS1 Nonsynonymous SNV G129D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 318179 chr12 88390198 88390198 T C C12orf50 Nonsynonymous SNV E145G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 318180 chr12 95456371 95456371 C T rs149368820 NR2C1 Synonymous SNV P66P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 318181 chr14 31771522 31771524 TTG - HEATR5A T1814del 0 0 0.003 0 0 0 0 1 0 0 0 0 318182 chr12 96394792 96394792 A G rs140220052 LTA4H Nonsynonymous SNV V604A 0 0 0.003 0 0 0 0 1 0 0 0 0 33 318183 chr13 100517131 100517131 C T rs141341905 CLYBL Synonymous SNV V200V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 318184 chr13 103390855 103390855 C T CCDC168 Synonymous SNV L4064L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.886 318185 chr19 57795933 57795933 C T rs145610334 ZNF460 Synonymous SNV F15F 0.003 0 0 0 3 0 0 0 1 0 0 0 11.29 318186 chr19 58102074 58102074 G A rs758687880 ZIK1 Nonsynonymous SNV E196K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 318187 chr8 146032901 146032901 C T rs535413984 ZNF517 Synonymous SNV T193T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.72 318188 chr8 31497578 31497578 G A NRG1 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.035 318189 chr14 59954427 59954427 A G rs913086836 JKAMP Synonymous SNV K38K 0 0 0.007 0 0 0 0 2 0 0 0 0 5.858 318190 chr14 64469722 64469722 G A rs371506443 SYNE2 Synonymous SNV T1357T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.638 318191 chr8 37699510 37699510 G A ADGRA2 Synonymous SNV E1218E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.53 318192 chr8 57080027 57080027 T A rs77315395 PLAG1 Nonsynonymous SNV K11M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 318193 chr14 74062206 74062206 G A rs778439035 ACOT4 Nonsynonymous SNV A372T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 318194 chr14 74823643 74823643 C T rs2232032 VRTN Nonsynonymous SNV L53F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.104 318195 chr8 8560107 8560107 G A rs61755871 CLDN23 Nonsynonymous SNV D67N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 318196 chr8 92114936 92114936 C T rs200429038 LRRC69 Nonsynonymous SNV T16M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 318197 chr8 94746444 94746444 C T rs377086209 RBM12B Nonsynonymous SNV R732H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 318198 chr13 61985943 61985943 C T rs370959201 PCDH20 Synonymous SNV P763P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.392 318199 chr20 4770304 4770304 C T rs750014996 RASSF2 Nonsynonymous SNV V193I 0.002 0 0 0 2 0 0 0 0 0 0 0 34 318200 chr9 104125282 104125282 C T rs141722672 BAAT Nonsynonymous SNV V229I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.886 318201 chr14 96944807 96944807 G A rs116365333 AK7 Nonsynonymous SNV V455I 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.8 318202 chr20 21284421 21284421 C T rs913321233 XRN2 Nonsynonymous SNV S82F 0.003 0 0 0 3 0 0 0 0 0 0 0 16.35 318203 chr9 113170341 113170341 G T rs751488578 SVEP1 Nonsynonymous SNV D2513E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 318204 chr9 115652699 115652699 G A rs761575386 SLC46A2 Nonsynonymous SNV S88F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 318205 chr14 20389039 20389039 A G rs115414820 OR4K5 Nonsynonymous SNV I92V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.1 318206 chr14 20470825 20470825 C A rs74033777 OR4Q2 Synonymous SNV P168P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 318207 chr14 20897365 20897365 T A rs7159913 KLHL33 Synonymous SNV A415A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.568 318208 chr20 43564096 43564096 C T rs759886282 PABPC1L Synonymous SNV L508L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.812 318209 chr20 43803637 43803637 C T rs778635514 PI3 Nonsynonymous SNV T25M 0.002 0 0 0 2 0 0 0 0 0 0 0 6.754 318210 chr14 23311750 23311750 A G rs753203880 MMP14 Nonsynonymous SNV H171R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.712 318211 chr8 89128880 89128880 A C MMP16 Synonymous SNV P313P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.544 318212 chr8 95504005 95504005 A G rs752822435 VIRMA Synonymous SNV S1647S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.546 318213 chr15 53994399 53994399 T C rs749354192 WDR72 Nonsynonymous SNV I501V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.419 318214 chr20 49195795 49195795 G A rs763558512 PTPN1 Nonsynonymous SNV D192N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 318215 chr9 96857731 96857731 G C rs147113329 PTPDC1 Nonsynonymous SNV R250P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 318216 chr9 135201729 135201729 T A SETX Synonymous SNV V1752V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 318217 chrX 103359563 103359563 T C ZCCHC18 Nonsynonymous SNV I254T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.161 318218 chr9 136412313 136412313 C T ADAMTSL2 Nonsynonymous SNV T306I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 318219 chr15 78893990 78893990 T C CHRNA3 Nonsynonymous SNV T332A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 318220 chr15 81225606 81225606 C T rs749926140 CEMIP Synonymous SNV F938F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.43 318221 chr15 81601095 81601095 A G rs751387471 IL16 Nonsynonymous SNV K618E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 318222 chr14 65258545 65258545 G A rs373593599 SPTB Nonsynonymous SNV T899I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 318223 chr15 83926202 83926202 G A rs771216854 BNC1 Nonsynonymous SNV L986F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 318224 chr14 65438716 65438716 G C rs377176510 RAB15 Nonsynonymous SNV R27G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 318225 chr9 139685874 139685874 C T rs777371826 TMEM141 Nonsynonymous SNV P18S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 318226 chrX 136113092 136113092 C T GPR101 Nonsynonymous SNV E248K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.51 318227 chr9 139270914 139270914 T C SNAPC4 Nonsynonymous SNV K1435R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 318228 chrX 152585535 152585570 CCTCACCTGTACCTCCTTCCTCACCTGCACCTCCTG - PNMA6F A188_E199del 0.001 0 0 0 1 0 0 0 0 0 0 0 318229 chrX 153005686 153005686 G A rs782278443 ABCD1 Synonymous SNV P543P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.953 318230 chr21 36043001 36043001 C A rs187670208 CLIC6 Nonsynonymous SNV D438E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 318231 chrX 23956695 23956695 C T rs369841797 CXorf58 Nonsynonymous SNV R273W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 318232 chr9 17366655 17366655 A G rs114568912 CNTLN Nonsynonymous SNV I643V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 318233 chr9 17394682 17394682 G C rs200761681 CNTLN Nonsynonymous SNV E744Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 318234 chr9 17484354 17484354 A C CNTLN Nonsynonymous SNV K1305T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 318235 chr9 19296211 19296211 C G rs201208731 DENND4C Nonsynonymous SNV S336C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 318236 chr9 33262815 33262815 G A rs756192560 BAG1 Synonymous SNV H40H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.204 318237 chrX 38145166 38145166 - CCTCCCCTTCCA rs757569199 RPGR E1028_E1029insVEGE 0.001 0 0 0 1 0 0 0 0 0 0 0 318238 chr9 139277998 139278000 GCT - SNAPC4 S542del 0.003 0 0 0 4 0 0 0 0 0 0 0 318239 chr16 1486511 1486511 G A rs1016134033 CCDC154 Synonymous SNV V474V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.68 318240 chr9 5534950 5534950 C G rs764053409 PDCD1LG2 Nonsynonymous SNV F87L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 318241 chr15 23890565 23890565 G C rs765152928 MAGEL2 Nonsynonymous SNV N775K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.561 318242 chr9 4741000 4741000 G A rs752288305 AK3 Nonsynonymous SNV H30Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.479 318243 chr15 25438473 25438475 GAT - rs753293615 SNHG14, SNORD115-13 0 0 0.003 0 0 0 0 1 0 0 0 0 318244 chr15 26147517 26147517 C T rs760053509 LINC02346 0 0 0.003 0 0 0 0 1 0 0 0 0 6.769 318245 chr16 2231823 2231823 C T rs199631539 CASKIN1 Synonymous SNV E579E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 318246 chr9 80049440 80049440 T C rs148017027 GNA14 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 318247 chr9 84208162 84208162 G A rs202222787 TLE1 Synonymous SNV D463D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.427 318248 chr9 84235404 84235404 G A rs147867092 TLE1 Synonymous SNV S231S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 318249 chr22 21141298 21141298 C A rs771202457 SERPIND1 Nonsynonymous SNV H482N 0.002 0.003 0 0 2 1 0 0 0 0 0 0 24 318250 chr22 21982977 21982977 C T rs769041845 YDJC Synonymous SNV A234A 0.002 0.003 0 0 2 1 0 0 0 0 0 0 14.11 318251 chr9 80039019 80039019 T C rs770498591 GNA14 Nonsynonymous SNV D315G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 318252 chr22 24563025 24563025 A C CABIN1 Nonsynonymous SNV Q1759P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.87 318253 chr9 95032250 95032250 T C IARS1 Synonymous SNV L407L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.45 318254 chr16 31580326 31580326 C A rs75975020 YBX3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.912 318255 chr16 47495300 47495300 G A rs141733590 PHKB Stop gain W13X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 36 318256 chrX 140995939 140995939 C T rs147852270 MAGEC1 Nonsynonymous SNV R917W 0.002 0 0 0 2 0 0 0 1 0 0 0 22.8 318257 chrX 135430758 135430758 A G rs939625082 ADGRG4 Synonymous SNV T1631T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.007 318258 chr16 56792522 56792522 C T rs575750196 NUP93 Synonymous SNV A84A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 318259 chr15 51696618 51696618 T G GLDN Nonsynonymous SNV S317R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 318260 chr22 37581478 37581478 G A rs142501897 C1QTNF6 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.95 318261 chr15 59344511 59344511 T G rs142916216 RNF111 Nonsynonymous SNV I296M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 318262 chr22 37900207 37900207 G A rs752169222 CARD10 Synonymous SNV P540P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.098 318263 chr15 62274679 62274679 T C rs763618882 VPS13C Nonsynonymous SNV I627V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 318264 chr15 62534764 62534764 A - rs199607552 GOLGA2P11 0 0 0.003 0 0 0 0 1 0 0 0 0 318265 chrX 49032455 49032455 G C rs782301011 PRICKLE3 Nonsynonymous SNV P404R 0.002 0 0 0 2 0 0 0 1 0 0 0 23.7 318266 chr15 74473800 74473800 C T rs397518484 STRA6 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 23.2 318267 chrX 49958837 49958837 C T rs201625510 AKAP4 Nonsynonymous SNV R176H 0.002 0 0 0 2 0 0 0 1 0 0 0 0.001 318268 chr15 75320785 75320785 C T PPCDC Synonymous SNV D42D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 318269 chr16 83999538 83999538 G A OSGIN1 Nonsynonymous SNV V454M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 318270 chr15 75500801 75500801 G A rs752850540 C15orf39 Synonymous SNV A804A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 318271 chr16 84256285 84256285 A G rs766073411 KCNG4 Synonymous SNV R366R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 318272 chrY 6955416 6955416 T C TBL1Y Synonymous SNV D463D 0.002 0 0 0 2 0 0 0 1 0 0 0 0.913 318273 chr22 50280482 50280482 T A rs201264934 ZBED4 Nonsynonymous SNV S1058T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 318274 chr10 102054764 102054764 A G rs143227721 PKD2L1 Synonymous SNV Y444Y 0 0.003 0 0 0 1 0 0 0 0 0 0 4.363 318275 chr10 43977327 43977327 C T rs58052353 ZNF487 Nonsynonymous SNV A198V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 318276 chr16 88780151 88780151 G A rs774672391 CTU2 Nonsynonymous SNV V237I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 318277 chr15 90794050 90794051 AG - rs763021914 TTLL13P 0 0 0.003 0 0 0 0 1 0 0 0 0 318278 chr15 93482824 93482824 C T rs540770153 CHD2 Nonsynonymous SNV R190C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 318279 chr10 50819096 50819096 G T SLC18A3 Nonsynonymous SNV A104S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 318280 chrX 47836631 47836631 T C rs200901185 ZNF182 Synonymous SNV T266T 0.002 0 0 0 2 0 0 0 1 0 0 0 0.907 318281 chr10 116621205 116621205 T G FAM160B1 Nonsynonymous SNV I735S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 318282 chr10 61956372 61956372 A G ANK3 Synonymous SNV T550T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.229 318283 chr10 64382963 64382971 TTCTCTGGA - ZNF365 W363_L365del 0.001 0 0 0 1 0 0 0 0 0 0 0 318284 chr16 10769922 10769922 A G TEKT5 Nonsynonymous SNV L327S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 318285 chr1 16133924 16133924 A T rs199897246 UQCRHL Nonsynonymous SNV F74Y 0.002 0 0 0 2 0 0 0 0 0 0 0 10.56 318286 chrX 72744987 72744987 T A MAP2K4P1 0.002 0 0 0 2 0 0 0 1 0 0 0 8.698 318287 chr17 15903196 15903196 G A TTC19 Nonsynonymous SNV G12S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 318288 chr17 16075190 16075190 C T rs192911086 NCOR1 Nonsynonymous SNV R121H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 318289 chr16 1254251 1254251 G A rs372743868 CACNA1H Synonymous SNV A748A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.388 318290 chr10 62671295 62671295 G A rs111316408 RHOBTB1 Synonymous SNV D2D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.27 318291 chr1 17420121 17420121 C T rs138321729 PADI2 Nonsynonymous SNV R157Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.6 318292 chr17 19247882 19247882 A G MIR1180 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 318293 chr16 15818608 15818608 G A MYH11 Synonymous SNV L1338L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 318294 chr16 16256934 16256934 C T rs572351621 ABCC6 Nonsynonymous SNV R1141Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.27 318295 chr17 21202222 21202222 T G rs373525024 MAP2K3 Nonsynonymous SNV I21S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 318296 chr10 72164165 72164165 C T rs751923485 EIF4EBP2 Nonsynonymous SNV S3L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 318297 chr16 2018516 2018516 C T rs369332882 RNF151 Synonymous SNV L110L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.984 318298 chr16 21123404 21123404 G A DNAH3 Synonymous SNV Y550Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.022 318299 chr10 79397264 79397269 GAGGAG - rs768819820 KCNMA1 S59_S60del 0.001 0 0 0 1 0 0 0 0 0 0 0 318300 chr16 2284912 2284912 G A E4F1 Synonymous SNV A438A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.001 318301 chr10 104853775 104853775 A G rs144333777 NT5C2 Synonymous SNV I123I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.038 318302 chr17 29632233 29632233 C T rs572332677 EVI2B Nonsynonymous SNV R132H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.79 318303 chr16 23698844 23698844 G A rs149319665 PLK1 Nonsynonymous SNV R364Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.69 318304 chr16 2580691 2580691 G A AMDHD2, CEMP1 Nonsynonymous SNV M572I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.469 318305 chr1 27684918 27684918 C T MAP3K6 Nonsynonymous SNV R915Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.23 318306 chr10 19636826 19636826 A T rs752253082 MALRD1 Nonsynonymous SNV D1343V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 318307 chr10 95070325 95070325 C T rs756750552 MYOF Nonsynonymous SNV E1976K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 318308 chr16 28993695 28993695 C T rs778869803 SPNS1 Synonymous SNV I254I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 318309 chr10 95169348 95169348 A - MYOF N194Kfs*12 0.001 0 0 0 1 0 0 0 0 0 0 0 318310 chr17 36905598 36905598 T A rs563582707 LOC100287808 0 0 0.003 0 0 0 0 1 0 0 0 0 6.61 318311 chr17 38641214 38641214 G A rs140376684 TNS4 Nonsynonymous SNV T445I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 318312 chr16 3349730 3349733 CAGA - rs774502030 TIGD7 L295Tfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 318313 chr16 4790464 4790464 G A rs368382724 C16orf71 Nonsynonymous SNV R196H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 318314 chr16 50402035 50402035 C T rs772880403 BRD7 Nonsynonymous SNV G75E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 318315 chr10 133981811 133981811 C T JAKMIP3 Nonsynonymous SNV R963W 0.001 0 0 0 1 0 0 0 0 0 0 0 2.177 318316 chr16 56226557 56226557 C T DKFZP434H168 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 318317 chr1 15833450 15833450 G A rs2308939 CASP9 Nonsynonymous SNV R192C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 318318 chr17 40735528 40735528 G A rs368735876 RETREG3 Synonymous SNV A266A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 318319 chr17 41835923 41835923 C G SOST Nonsynonymous SNV G63R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 318320 chr1 19168259 19168259 C T rs756882023 TAS1R2 Nonsynonymous SNV D519N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 318321 chr11 103175354 103175354 G A rs780426783 DYNC2H1 Nonsynonymous SNV A3763T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Uncertain significance 34 318322 chr10 60558971 60558971 G A rs141490536 BICC1 Nonsynonymous SNV E562K 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 318323 chr17 4576142 4576142 C T rs761703296 PELP1 Nonsynonymous SNV G715D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 318324 chr16 711958 711958 C G rs199535557 WDR90 Nonsynonymous SNV P1311R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 318325 chr16 71885284 71885284 A G ATXN1L Synonymous SNV V547V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.729 318326 chr17 48606071 48606071 C T rs758435098 MYCBPAP Nonsynonymous SNV P823L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 318327 chr1 24496005 24496005 T C IFNLR1 Nonsynonymous SNV Q90R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 318328 chr17 56585867 56585867 C G rs368745705 MTMR4 Nonsynonymous SNV Q171H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.45 318329 chr11 119185453 119185453 G A rs777935531 MCAM Nonsynonymous SNV P136L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 318330 chr1 79107140 79107140 G T rs35466823 IFI44L Nonsynonymous SNV M390I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.553 318331 chr1 33291703 33291703 G T rs947935422 S100PBP Star tloss M2del 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 318332 chr17 65147271 65147271 G A rs200210392 HELZ Synonymous SNV S750S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 318333 chr16 88503251 88503251 C T rs543370102 ZNF469 Nonsynonymous SNV R3125C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.6 318334 chr11 124626602 124626602 G T rs140721881 ESAM Nonsynonymous SNV P96T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 318335 chr10 55587204 55587204 G A rs374714898 PCDH15 Nonsynonymous SNV P1368L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.9 318336 chr17 71257894 71257894 G A CPSF4L Stop gain Q22X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318337 chr11 125467003 125467003 T C STT3A Synonymous SNV H46H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.526 318338 chr17 7290733 7290733 A G rs191861153 TNK1 Synonymous SNV P483P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.252 318339 chr17 73237563 73237563 C A rs780209198 GGA3 Synonymous SNV R166R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 318340 chr10 708849 708849 C T PRR26 Nonsynonymous SNV L182F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 318341 chr17 73871042 73871042 - CT rs761381867 TRIM47 Frameshift insertion G480Efs*91 0 0 0.003 0 0 0 0 1 0 0 0 0 318342 chr17 1564650 1564650 C T rs747394656 PRPF8 Nonsynonymous SNV R1418Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318343 chr17 74527591 74527591 A G rs770196178 CYGB Nonsynonymous SNV V109A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 318344 chr10 73826840 73826840 T C rs370761258 SPOCK2 Nonsynonymous SNV I250V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.11 318345 chr1 119474283 119474283 G C TBX15 Nonsynonymous SNV F126L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 318346 chr17 76511081 76511081 C G rs777415008 DNAH17 Nonsynonymous SNV W1296C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 318347 chr17 7667308 7667308 C T rs79442311 DNAH2 Synonymous SNV R1046R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 318348 chr1 149882502 149882502 G A SV2A Synonymous SNV F277F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 318349 chr17 77709004 77709004 C T rs782606972 ENPP7 Synonymous SNV L188L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.112 318350 chr1 150973055 150973055 C T MINDY1 Nonsynonymous SNV A63T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 318351 chr17 77709064 77709064 G A rs782171118 ENPP7 Nonsynonymous SNV E208K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 318352 chr17 2278787 2278787 T G SGSM2 Nonsynonymous SNV V656G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 318353 chr17 2290561 2290561 C G MNT Synonymous SNV G461G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.55 318354 chr17 78190858 78190858 G A rs768056322 SGSH Synonymous SNV R74R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.93 318355 chr17 26518205 26518205 C T rs140297690 NLK Synonymous SNV D465D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 318356 chr17 26671542 26671542 G A rs147106718 TNFAIP1 Synonymous SNV R289R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 318357 chr17 78319799 78319799 G A RNF213 Nonsynonymous SNV R2555K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 318358 chr17 78328132 78328132 A T RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.488 318359 chr1 154164409 154164409 T G rs1049537934 TPM3 Nonsynonymous SNV E29A 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 318360 chr1 154960651 154960651 G A rs140409443 FLAD1 Nonsynonymous SNV R148Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 318361 chr17 35802669 35802669 A G rs199556759 TADA2A Synonymous SNV T149T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.827 318362 chr17 36830095 36830095 G A EPOP Synonymous SNV A218A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.695 318363 chr17 38324563 38324563 A G rs769347266 CASC3 Nonsynonymous SNV T620A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 318364 chr18 2740713 2740713 C T rs553452960 SMCHD1 Nonsynonymous SNV T1176I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.44 318365 chr18 2891855 2891855 G A rs146514476 EMILIN2 Nonsynonymous SNV R577H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 318366 chr18 3129368 3129368 T C rs199900004 MYOM1 Nonsynonymous SNV S886G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.111 318367 chr18 34232776 34232776 G A rs775833665 FHOD3 Synonymous SNV P510P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 318368 chr18 47363158 47363158 G T rs767619758 MYO5B Nonsynonymous SNV L1746I 0 0 0.003 0 0 0 0 1 0 0 0 0 28 318369 chr11 108253865 108253865 G A rs765611189 C11orf65 Synonymous SNV N275N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.428 318370 chr17 40061857 40061857 G A rs375421265 ACLY Synonymous SNV Y307Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.03 318371 chr17 40497583 40497583 C T rs964141843 STAT3 Synonymous SNV A122A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 318372 chr11 107263550 107263550 G C rs373052772 CWF19L2 Synonymous SNV P563P 0.002 0 0 0 2 0 0 0 0 0 0 0 11.63 318373 chr11 111910027 111910027 A G rs140302942 DLAT Synonymous SNV P345P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 3.724 318374 chr11 5424077 5424077 T C OR51J1 Nonsynonymous SNV V84A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 318375 chr18 60497450 60497450 C G rs200816598 PHLPP1 Nonsynonymous SNV L587V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 318376 chr17 4356416 4356416 C T rs781366952 SPNS3 Synonymous SNV L216L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 318377 chr17 43893849 43893849 G A rs779673418 CRHR1 Nonsynonymous SNV V48M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 318378 chr11 113672282 113672282 T C rs769910849 USP28 Nonsynonymous SNV D661G 0.002 0 0 0 2 0 0 0 0 0 0 0 21.3 318379 chr1 145586643 145586643 T G rs140838696 NUDT17 Synonymous SNV A311A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.908 318380 chr1 151039892 151039892 T C MLLT11 Synonymous SNV D64D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.085 318381 chr11 5510570 5510570 C T OR52D1 Synonymous SNV L212L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 318382 chr18 72021423 72021423 T A C18orf63 Nonsynonymous SNV C641S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.285 318383 chr17 48249710 48249710 G A rs772037672 HILS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.84 318384 chr18 77659696 77659696 G A rs577587970 KCNG2 Synonymous SNV P427P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.527 318385 chr17 56599391 56599391 C A SEPTIN4 Nonsynonymous SNV R146L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 318386 chr1 156347163 156347163 T C rs993336488 RHBG Nonsynonymous SNV F87L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 318387 chr19 11558318 11558318 C T rs201385707 PRKCSH Nonsynonymous SNV P305L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.67 318388 chr19 1268364 1268364 C T CIRBP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.627 318389 chr17 61685211 61685211 C - TACO1 L249Wfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 318390 chr11 129727250 129727261 GACCAGAAGGAT - TMEM45B Q206_D209del 0.001 0 0 0 1 0 0 0 0 0 0 0 318391 chr17 7259990 7259990 A G rs79803982 TMEM95 Nonsynonymous SNV M188V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.325 318392 chr11 62649524 62649524 C G SLC3A2 Nonsynonymous SNV S195W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 318393 chr11 63257742 63257742 A G PLAAT5 Nonsynonymous SNV L81S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.393 318394 chr17 76798590 76798590 T G rs898890193 USP36 Synonymous SNV P946P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.773 318395 chr11 63919835 63919835 C T rs151310156 MACROD1 Nonsynonymous SNV R110Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 318396 chr17 7804681 7804681 C T rs149027084 CHD3 Synonymous SNV L1139L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.15 318397 chr17 78328579 78328579 C T rs147553652 RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.062 318398 chr11 46727257 46727257 C T rs757700555 ZNF408 Synonymous SNV P661P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.84 318399 chr1 200826962 200826962 T C rs772310216 CAMSAP2 Synonymous SNV Y1388Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 318400 chr17 80282708 80282708 G A rs558096295 SECTM1 Synonymous SNV T51T 0 0 0.003 0 0 0 0 1 0 0 0 0 9 318401 chr11 48347290 48347290 A G OR4C3 Synonymous SNV G239G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 318402 chr19 38631992 38631992 C G rs200785797 SIPA1L3 Synonymous SNV P1104P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.253 318403 chr11 46407349 46407349 G A rs16938505 CHRM4 Synonymous SNV S253S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.104 318404 chr11 46690054 46690054 C T rs145878316 ATG13 Synonymous SNV T270T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.67 318405 chr11 46702259 46702259 G A rs200224571 ARHGAP1 Nonsynonymous SNV A225V 0.001 0 0 0 1 0 0 0 0 0 0 0 17 318406 chr19 38993362 38993362 C T rs140063541 RYR1 Synonymous SNV L2610L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.15 318407 chr11 66062725 66062725 C G rs765958427 TMEM151A Synonymous SNV S336S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.983 318408 chr11 66358800 66358802 TCT - CCDC87 K562del 0.001 0 0 0 1 0 0 0 0 0 0 0 318409 chr18 10807152 10807152 G A PIEZO2 Synonymous SNV Y346Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.562 318410 chr18 1269720 1269720 C T rs116262325 LINC00470 0 0 0.007 0 0 0 0 2 0 0 0 0 5.799 318411 chr18 1273379 1273379 A C rs1435487 LINC00470 0 0 0.007 0 0 0 0 2 0 0 0 0 1.828 318412 chr18 1273415 1273415 A G rs1435488 LINC00470 0 0 0.007 0 0 0 0 2 0 0 0 0 4.451 318413 chr11 6953617 6953617 C T rs137994956 ZNF215 Synonymous SNV V38V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 318414 chr18 2762129 2762129 A G rs763699437 SMCHD1 Synonymous SNV Q1487Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.32 318415 chr11 7111462 7111462 A C rs138499352 RBMXL2 Synonymous SNV R371R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 318416 chr11 71630042 71630061 TTAGCAAGTTCTCTACAGGA - rs771623613 LOC100133315 0.001 0 0 0 1 0 0 0 0 0 0 0 318417 chr11 73789331 73789331 C T C2CD3 Nonsynonymous SNV G1478S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.928 318418 chr18 33795565 33795565 G A rs34489411 MOCOS Synonymous SNV T474T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.3 318419 chr19 44739712 44739712 G C rs149831526 ZNF227 Nonsynonymous SNV E298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 318420 chr19 44933267 44933267 C T ZNF229 Synonymous SNV Q557Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 318421 chr19 46915857 46915857 T G rs750991405 CCDC8 Nonsynonymous SNV K71Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 318422 chr19 47491277 47491277 C T rs377158433 ARHGAP35 Synonymous SNV S1286S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.38 318423 chr1 230839043 230839043 C T rs757454311 AGT Synonymous SNV A434A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 318424 chr19 47879778 47879778 G A rs200310017 DHX34 Nonsynonymous SNV A854T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 318425 chr11 60885894 60885894 C T CD5 Synonymous SNV F57F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.23 318426 chr11 94861757 94861757 C T rs200694967 ENDOD1 Nonsynonymous SNV R173W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 318427 chr2 44101597 44101597 C A rs139612373 ABCG8 Nonsynonymous SNV T487N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 318428 chr18 72103933 72103933 G A rs758060528 DIPK1C Nonsynonymous SNV R355C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318429 chr18 72264335 72264335 T C rs987993849 LINC00909 0 0 0.003 0 0 0 0 1 0 0 0 0 3.733 318430 chr18 77246598 77246598 G A rs555514767 NFATC1 Nonsynonymous SNV G343R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.901 318431 chr19 51840597 51840597 C T rs201902240 VSIG10L Nonsynonymous SNV V734M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 318432 chr11 58190331 58190331 G A rs199556711 OR5B2 Nonsynonymous SNV T135M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.13 318433 chr12 109017441 109017441 G A rs139943851 SELPLG Nonsynonymous SNV P231S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 318434 chr12 108956408 108956408 G C rs558084375 ISCU Nonsynonymous SNV A4P 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.26 318435 chr12 110370828 110370828 A C rs778688948 GIT2 Synonymous SNV A665A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.43 318436 chr19 1108845 1108845 G A rs749744087 SBNO2 Synonymous SNV A1126A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 318437 chr12 113599150 113599150 G T DDX54 Nonsynonymous SNV R780S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 318438 chr11 6588899 6588899 G A rs750961871 DNHD1 Nonsynonymous SNV G4054S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.134 318439 chr19 12429552 12429552 C T rs139708657 ZNF563 Synonymous SNV A429A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 318440 chr11 61034956 61034956 G A rs777984745 VWCE Nonsynonymous SNV P648L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 318441 chr11 61077291 61077291 A G rs775572938 DDB1 Nonsynonymous SNV I848T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 318442 chr11 62398300 62398300 C A GANAB Nonsynonymous SNV A273S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 318443 chr11 6816021 6816021 A G rs752376149 OR6A2 Nonsynonymous SNV C307R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 318444 chr11 63990849 63990849 T C FERMT3 Nonsynonymous SNV I626T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 318445 chr19 55953829 55953829 C A SHISA7 Synonymous SNV P134P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 318446 chr12 130831034 130831034 C T rs773984472 PIWIL1 Nonsynonymous SNV R146C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 318447 chr11 64410196 64410196 G A rs4373928 NRXN2 Nonsynonymous SNV P27L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.551 318448 chr11 75150959 75150959 G T GDPD5 Synonymous SNV S369S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.82 318449 chr11 65732880 65732880 C T rs754425810 SART1 Nonsynonymous SNV R208W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 318450 chr11 66114539 66114539 G C B4GAT1 Nonsynonymous SNV P160A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.45 318451 chr2 152132053 152132053 G A rs149577689 NMI Synonymous SNV R193R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.062 318452 chr11 66468500 66468500 C T SPTBN2 Nonsynonymous SNV A1024T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 318453 chr11 68181437 68181437 C T rs369623848 LRP5 Synonymous SNV C347C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 318454 chr19 8175780 8175780 A G rs200146570 FBN3 Nonsynonymous SNV C1428R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 318455 chr2 72359408 72359408 T C CYP26B1 Nonsynonymous SNV N421S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 318456 chr19 35793409 35793409 C A rs750356821 MAG Synonymous SNV V318V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.541 318457 chr11 72540381 72540381 C T rs780550050 ATG16L2 Synonymous SNV S496S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 318458 chr2 74757523 74757523 C A rs746431438 HTRA2 Synonymous SNV A130A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 318459 chr12 103352180 103352180 - GCAGCA ASCL1 Q62_A63insQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 318460 chr12 50190823 50190823 A G rs748214093 NCKAP5L Nonsynonymous SNV W274R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.44 318461 chr12 50236679 50236679 C T rs769190794 BCDIN3D Synonymous SNV E64E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 318462 chr12 49445149 49445202 GGGGGGACAGGTGTGGCTCCTCAGCCTGCGGAGATAGGTGTGGCTCCTCAGGCC - KMT2D R755_P772del 0.001 0 0 0 1 0 0 0 0 0 0 0 318463 chr11 76092880 76092880 A G GVQW3 Nonsynonymous SNV D3G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 318464 chr12 107713601 107713601 C G BTBD11 Nonsynonymous SNV A295G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 318465 chr11 76912628 76912628 C T rs746931203 MYO7A Nonsynonymous SNV P1663L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 318466 chr12 51442237 51442237 C G rs751524074 LETMD1 Nonsynonymous SNV S33C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 318467 chr12 109017024 109017024 C T rs145514203 SELPLG Nonsynonymous SNV V370M 0 0.005 0.003 0 0 2 0 1 0 0 0 0 32 318468 chr11 77907919 77907919 A G USP35 Nonsynonymous SNV I210V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 318469 chr19 3778229 3778229 T C MATK Synonymous SNV S451S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 318470 chr12 52774285 52774285 T A rs773544898 KRT84 Nonsynonymous SNV D429V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 318471 chr19 40420097 40420097 C A rs144899113 FCGBP Nonsynonymous SNV G966V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 318472 chr12 53613976 53613976 - G rs764641682 RARG Frameshift insertion C9Lfs*133 0.001 0 0 0 1 0 0 0 0 0 0 0 318473 chr19 41812401 41812401 G A rs369304665 HNRNPUL1 Synonymous SNV P745P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.724 318474 chr11 86103636 86103636 T G CCDC81 Nonsynonymous SNV F118V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 318475 chr12 53702987 53702987 G A rs760745488 AAAS Nonsynonymous SNV P264S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 318476 chr1 115398058 115398058 G A rs769436460 SYCP1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.862 318477 chr19 44223307 44223307 C T rs369104782 IRGC Synonymous SNV A199A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.011 318478 chr12 104387194 104387194 G A rs374496391 GLT8D2 Nonsynonymous SNV P286S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 318479 chr1 12429707 12429707 G A rs369842419 VPS13D Synonymous SNV Q3561Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.395 318480 chr12 58128378 58128378 C G rs35567553 AGAP2 Nonsynonymous SNV E438Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 318481 chr1 1267099 1267099 C T rs145853514 TAS1R3 Synonymous SNV P91P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.894 318482 chr12 58204606 58204606 C T rs61938187 AVIL Nonsynonymous SNV R184H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 318483 chr19 4511983 4511983 T C rs368890830 PLIN4 Synonymous SNV T663T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 318484 chr12 108145730 108145730 G A rs756348845 PRDM4 Synonymous SNV N196N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.182 318485 chr19 45430903 45430903 C G APOC1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.171 318486 chr19 45430904 45430904 T G APOC1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.329 318487 chr1 150483937 150483937 A C rs781721090 ECM1 Nonsynonymous SNV E265A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 318488 chr12 110246247 110246247 G A rs148779865 TRPV4 Nonsynonymous SNV P138L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 318489 chr12 70330377 70330377 C T rs763580394 MYRFL Nonsynonymous SNV S730F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.246 318490 chr1 154561107 154561107 C T rs375643914 ADAR Synonymous SNV A640A 0 0 0.007 0 0 0 0 2 0 0 0 0 13.45 318491 chr12 121682980 121682980 C T CAMKK2 Nonsynonymous SNV E506K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 318492 chr19 50393394 50393394 C T IL4I1 Nonsynonymous SNV E413K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.36 318493 chr1 156899430 156899430 A C LRRC71 Nonsynonymous SNV E383D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.81 318494 chr1 157494123 157494123 C A rs775943476 FCRL5 Nonsynonymous SNV A729S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 318495 chr12 94702675 94702693 CCCTTTGATGTTGTTCCTC - CEP83 E593Nfs*9 0.002 0 0 0 2 0 0 0 0 0 0 0 318496 chr12 3789427 3789427 G A CRACR2A Nonsynonymous SNV P106L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.35 318497 chr2 233759569 233759569 C T NGEF Nonsynonymous SNV V204M 0.001 0 0 0 1 0 0 0 0 0 0 0 31 318498 chr2 179594851 179594851 T C rs751657803 TTN Synonymous SNV T4848T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.294 318499 chr12 99129363 99129364 GT - rs764931291 ANKS1B Stop gain T172* 0.001 0 0 0 1 0 0 0 0 0 0 0 318500 chr19 51871739 51871739 C T rs746357149 CLDND2 Stop gain W31X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 318501 chr1 15905457 15905457 C T rs768762536 AGMAT Nonsynonymous SNV R206H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318502 chr13 103515348 103515348 A G rs997224464 BIVM-ERCC5, ERCC5 Nonsynonymous SNV T617A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.121 318503 chr1 167088493 167088493 G A DUSP27 Nonsynonymous SNV A149T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 318504 chr13 114438289 114438289 G A rs778431443 GRK1 Nonsynonymous SNV G549R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.594 318505 chr1 173593986 173593986 C T ANKRD45 Nonsynonymous SNV E224K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 318506 chr1 175325516 175325516 G A rs148153913 TNR Synonymous SNV A686A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.76 318507 chr2 242447420 242447420 C G STK25 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 318508 chr12 2914448 2914448 C T rs904014194 ITFG2-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6 318509 chr19 55828274 55828274 C T TMEM150B Nonsynonymous SNV V129I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.09 318510 chr13 36878680 36878680 C T rs757476233 SPART Nonsynonymous SNV G608D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 318511 chr19 56162744 56162744 T G rs143763452 CCDC106 Nonsynonymous SNV S102A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 318512 chr1 192321266 192321266 A G rs199588704 RGS21 Nonsynonymous SNV T60A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 318513 chr19 56538348 56538348 G C NLRP5 Nonsynonymous SNV R250P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 318514 chr1 198717327 198717327 A G PTPRC Synonymous SNV P818P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.122 318515 chr1 200818773 200818773 C T CAMSAP2 Nonsynonymous SNV S943F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 318516 chr13 51922438 51922438 C T rs771084357 SERPINE3 Nonsynonymous SNV R264C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 318517 chr19 58879710 58879710 G C rs771542489 ZNF837 Synonymous SNV P330P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.674 318518 chr12 6626079 6626079 C G rs138198563 NCAPD2 Nonsynonymous SNV A358G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.56 318519 chr13 96238298 96238298 C G DZIP1 Nonsynonymous SNV E752Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.765 318520 chr19 687016 687016 G C rs141818540 PRSS57 Nonsynonymous SNV P184R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 318521 chr12 54687034 54687034 A G NFE2 Synonymous SNV P82P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.25 318522 chr14 103440415 103440415 G A CDC42BPB Nonsynonymous SNV R527W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 318523 chr2 233323458 233323458 G A rs760471759 ALPI Nonsynonymous SNV G434R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.307 318524 chr19 9075994 9075994 G A rs369968713 MUC16 Nonsynonymous SNV P3818S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.265 318525 chr14 23374663 23374663 C T rs547766695 RBM23 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 318526 chr1 110169873 110169873 G A AMPD2 Synonymous SNV L244L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 318527 chr1 230410227 230410227 A G rs774570005 GALNT2 Nonsynonymous SNV M455V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.532 318528 chr14 24652848 24652848 C T rs774099362 IPO4 Nonsynonymous SNV D671N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 318529 chr14 24765968 24765968 G T DHRS1 Synonymous SNV V90V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.956 318530 chr1 231727387 231727387 C T rs946387722 LINC00582 0 0 0.003 0 0 0 0 1 0 0 0 0 5.568 318531 chr3 64132795 64132795 C T rs201170479 PRICKLE2 Nonsynonymous SNV M457I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.98 318532 chr13 114307246 114307246 G A rs75160036 ATP4B Nonsynonymous SNV A166V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.103 318533 chr14 35871602 35871602 C T rs116801398 NFKBIA Nonsynonymous SNV E302K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 318534 chr13 100622673 100622673 - GGT ZIC5 P424_A425insP 0.001 0 0 0 1 0 0 0 0 0 0 0 318535 chr13 100622698 100622698 - GCA ZIC5 P410_P411insL 0.001 0 0 0 1 0 0 0 0 0 0 0 318536 chr1 144921972 144921972 G A rs377555246 PDE4DIP Nonsynonymous SNV L516F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 318537 chr1 245865848 245865848 C T rs751874688 KIF26B Synonymous SNV N2089N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 318538 chr1 149906103 149906103 T G MTMR11 Synonymous SNV R150R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.798 318539 chr14 65241949 65241949 C T rs376789095 SPTB Nonsynonymous SNV R1579Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 318540 chr14 65482374 65482374 A G rs992136838 CHURC1-FNTB, FNTB Nonsynonymous SNV Y105C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 318541 chr1 153945260 153945260 G A rs371608503 CREB3L4 Nonsynonymous SNV R195H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 318542 chr1 154474438 154474438 G A rs185662597 SHE Nonsynonymous SNV S22F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 318543 chr1 26110189 26110189 T C MAN1C1 Nonsynonymous SNV L601P 0 0 0.003 0 0 0 0 1 0 0 0 0 29 318544 chr1 155015889 155015896 TGCGGGAC - DCST1 D336Vfs*37 0 0 0.003 0 0 0 0 1 0 0 0 0 318545 chr14 75139551 75139551 G C rs763048750 AREL1 Nonsynonymous SNV H469D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.26 318546 chr1 1559239 1559239 C T rs200757265 MIB2 Synonymous SNV D169D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.006 318547 chr1 27876455 27876455 G C AHDC1 Synonymous SNV R724R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.258 318548 chr13 45148691 45148696 TGTTGT - rs758505673 TSC22D1 Q508_Q509del 0.001 0 0 0 1 0 0 0 0 0 0 0 318549 chr1 156641324 156641324 C T rs768008110 NES Nonsynonymous SNV E886K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.172 318550 chr1 156907136 156907136 G A rs764554958 ARHGEF11 Nonsynonymous SNV R1409C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 318551 chr14 105052806 105052806 G T C14orf180 Synonymous SNV R13R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.813 318552 chr1 157738250 157738250 G A rs143741436 FCRL2 Synonymous SNV N279N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.402 318553 chr1 158298795 158298795 G A CD1B Nonsynonymous SNV T299I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 318554 chr1 158549489 158549489 C T rs756899862 OR10X1 Synonymous SNV V67V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.21 318555 chr1 34238284 34238284 G A CSMD2 Nonsynonymous SNV H578Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 318556 chr1 35250679 35250679 C T rs147106166 GJB3 Nonsynonymous SNV R106C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 318557 chr1 3756324 3756324 A C rs760840197 CEP104 Nonsynonymous SNV S195A 0 0 0.003 0 0 0 0 1 0 0 0 0 25 318558 chr1 43200774 43200774 C A rs200491942 CLDN19 Nonsynonymous SNV G220C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 318559 chr1 168269674 168269674 A G rs530483096 TBX19 Nonsynonymous SNV D227G 0 0 0.007 0 0 0 0 2 0 0 0 0 22.9 318560 chr1 47512211 47512211 G A rs61742240 CYP4X1 Synonymous SNV P381P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.791 318561 chr14 23855689 23855689 C T rs981486511 MYH6 Synonymous SNV S1598S 0 0.003 0 0 0 1 0 0 0 0 0 0 17.98 318562 chr1 55077278 55077278 C T rs141735196 FAM151A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.5 318563 chr15 41812883 41812883 A C rs1011889908 RPAP1 Nonsynonymous SNV S1167R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 318564 chr14 50245184 50245184 C T rs769040447 KLHDC2 Nonsynonymous SNV T202I 0 0.003 0 0 0 1 0 0 0 0 0 0 31 318565 chr1 74937845 74937845 G A rs758205825 LRRC53 Synonymous SNV P487P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.939 318566 chr1 84376945 84376945 G A rs200316155 TTLL7 Synonymous SNV D536D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.092 318567 chr15 44944333 44944333 A G rs760573942 SPG11 Nonsynonymous SNV I334T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.181 318568 chr15 44925789 44925789 T C rs529146881 SPG11 Nonsynonymous SNV K550R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 26.4 318569 chr15 52029804 52029804 G C rs1812762 LYSMD2 Nonsynonymous SNV P6A 0.001 0 0 0 1 0 0 0 0 0 0 0 23 318570 chr15 56924164 56924164 G A ZNF280D Synonymous SNV I811I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.732 318571 chr14 24113619 24113619 C A DHRS2 Nonsynonymous SNV A181E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.083 318572 chr14 24676423 24676423 A G rs775107756 TSSK4 Nonsynonymous SNV K181R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 318573 chr15 62989946 62989946 C T rs138352506 TLN2 Nonsynonymous SNV A451V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 318574 chr15 62999319 62999319 A G rs139051192 TLN2 Nonsynonymous SNV N680S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 318575 chr1 207286413 207286413 A G rs756483735 C4BPA Nonsynonymous SNV R15G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 318576 chr15 66190396 66190396 T C rs759025192 MEGF11 Nonsynonymous SNV H1004R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 318577 chr1 218480923 218480923 T C rs374977377 RRP15 Synonymous SNV D218D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.649 318578 chr14 93412806 93412806 C T rs148765069 ITPK1 Synonymous SNV P138P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.113 318579 chr14 93483134 93483134 G A rs759209329 ITPK1 Nonsynonymous SNV R45W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 318580 chr14 77493551 77493551 G T rs746438093 IRF2BPL Synonymous SNV G195G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.019 318581 chr15 90191752 90191752 C A rs553968087 KIF7 Nonsynonymous SNV G393C 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.172 318582 chr15 86810303 86810303 C T rs767547891 AGBL1 Nonsynonymous SNV R612C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 318583 chr20 47246069 47246069 C T rs138841096 PREX1 Nonsynonymous SNV A1562T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 318584 chr1 228645134 228645134 C T rs773858924 HIST3H2A Nonsynonymous SNV G129S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 318585 chr4 69964368 69964368 G T UGT2B7 Stop gain G278X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 318586 chr14 92909105 92909107 CTG - SLC24A4 A177del 0.001 0 0 0 1 0 0 0 0 0 0 0 318587 chr1 233515451 233515451 C T rs34499091 MAP3K21 Nonsynonymous SNV T900I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 318588 chr15 93588774 93588774 G A rs529673393 RGMA Synonymous SNV H253H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.337 318589 chr20 61444292 61444292 C T rs778308118 OGFR Nonsynonymous SNV P442L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 318590 chr4 985254 985254 C T rs374288131 SLC26A1 Nonsynonymous SNV G80S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 318591 chr4 100128603 100128603 C G rs750527687 ADH6 Nonsynonymous SNV G322R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 318592 chr20 62562299 62562299 G C DNAJC5 Nonsynonymous SNV K139N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 318593 chr20 62679548 62679548 C T SOX18 Nonsynonymous SNV V376I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 318594 chr15 45402710 45402710 A G rs1037554590 DUOX2 Nonsynonymous SNV F319S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 318595 chr16 19883318 19883318 C T rs202072367 GPRC5B Nonsynonymous SNV V415I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 318596 chr21 19685292 19685292 G C rs77200626 TMPRSS15 Stop gain S712X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 48 318597 chr21 32499427 32499427 G A rs766297450 TIAM1 Synonymous SNV S396S 0 0 0.007 0 0 0 0 2 0 0 0 0 9.404 318598 chr15 42138443 42138443 C T rs148940055 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV S548L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.29 318599 chr15 42160714 42160714 A T SPTBN5 Nonsynonymous SNV L1980Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23 318600 chr16 25268229 25268229 G A ZKSCAN2 Synonymous SNV L74L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 318601 chr4 8098941 8098941 A G ABLIM2 Nonsynonymous SNV Y75H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 318602 chr16 28507630 28507630 - T rs761314508 APOBR Frameshift insertion K426Qfs*9 0.001 0 0 0 1 0 0 0 0 0 0 0 318603 chr16 30537042 30537062 GGGCTCCGGGGTTCATACCCG - rs759350290 ZNF768 P137_E143del 0.001 0 0 0 1 0 0 0 0 0 0 0 318604 chr1 36204823 36204823 C T rs143427538 CLSPN Nonsynonymous SNV R1051H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318605 chr1 37325472 37325472 C T rs186444609 GRIK3 Synonymous SNV E311E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 318606 chr21 45555996 45555996 C T rs182331031 GATD3A, GATD3B Synonymous SNV D83D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 318607 chr1 3761503 3761503 G A rs201775417 CEP104 Synonymous SNV S178S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.468 318608 chr21 45876938 45876938 C T rs141489159 LRRC3 Synonymous SNV S137S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 318609 chr21 45877228 45877228 G A rs148872771 LRRC3 Nonsynonymous SNV R234Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 318610 chr21 45978180 45978180 G C rs199514204 KRTAP10-3 Nonsynonymous SNV S140C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 318611 chr4 159630907 159630907 T C rs756487143 PPID Nonsynonymous SNV Y365C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.5 318612 chr1 40717197 40717197 T - rs760309211 TMCO2 E161Sfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 318613 chr15 75499486 75499486 G A rs757799506 C15orf39 Nonsynonymous SNV R366Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.1 318614 chr15 77425845 77425845 G A rs77545975 PEAK1 Synonymous SNV N1193N 0 0.003 0 0 0 1 0 0 0 0 0 0 3.038 318615 chr15 77473190 77473190 A G rs375060880 PEAK1 Nonsynonymous SNV L360S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.807 318616 chr4 170037759 170037759 G A rs752763208 SH3RF1 Synonymous SNV R600R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.775 318617 chr1 43906201 43906201 G C rs912859021 SZT2 Nonsynonymous SNV G2373R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 318618 chr22 18209530 18209530 G A rs199938014 BCL2L13 Nonsynonymous SNV D206N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318619 chr4 177143548 177143548 G T rs112037572 ASB5 Synonymous SNV T100T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.769 318620 chr4 178355548 178355548 C T rs375663828 AGA Nonsynonymous SNV R265H 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 34 318621 chr22 19119336 19119336 C G rs141030556 TSSK2 Nonsynonymous SNV L142V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 318622 chr1 46032665 46032665 A G AKR1A1 Nonsynonymous SNV Y110C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 318623 chr16 55362620 55362620 G A rs760215424 IRX6 Nonsynonymous SNV A244T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 318624 chr15 65394631 65394631 G C rs761937299 UBAP1L Nonsynonymous SNV P171R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 318625 chr16 57017243 57017243 G A rs536221680 CETP Nonsynonymous SNV E383K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.5 318626 chr1 53547789 53547800 GAGGAGGAGGAA - rs755332224 PODN E656_E659del 0 0 0.003 0 0 0 0 1 0 0 0 0 318627 chr5 1243816 1243816 C T rs201446388 SLC6A18 Synonymous SNV I426I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.51 318628 chr16 69783464 69783464 T C rs751320087 NOB1 Nonsynonymous SNV K133E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 318629 chr22 32889195 32889195 G - FBXO7 V279Ffs*55 0 0 0.003 0 0 0 0 1 0 0 0 0 318630 chr16 71674690 71674690 C T rs373575019 MARVELD3 Synonymous SNV T331T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.961 318631 chr15 91500845 91500845 T C RCCD1 Nonsynonymous SNV L190P 0 0.003 0 0 0 1 0 0 0 0 0 0 24 318632 chr1 6880243 6880243 C T rs758078991 CAMTA1 Synonymous SNV S16S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 318633 chr16 775236 775236 C T rs138669350 CCDC78 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.358 318634 chr15 90168991 90168991 C T rs780264569 TICRR Nonsynonymous SNV T1816M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.396 318635 chr1 85510985 85510985 C T rs147497215 MCOLN3 Nonsynonymous SNV C20Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 318636 chr15 90320179 90320179 G A rs754567634 MESP2 Synonymous SNV G197G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.641 318637 chr1 85624504 85624504 C T rs781408308 SYDE2 Nonsynonymous SNV E1172K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 318638 chr15 90349210 90349210 T C rs775137582 ANPEP Nonsynonymous SNV N202S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.744 318639 chr16 81730248 81730248 T C rs545129438 CMIP Synonymous SNV D444D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.122 318640 chr16 84067011 84067011 A C SLC38A8 Nonsynonymous SNV F151C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 318641 chr22 46652557 46652557 A C PKDREJ Nonsynonymous SNV I2221M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 318642 chr22 50483703 50483703 G A rs376319309 TTLL8 Synonymous SNV S244S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.75 318643 chr22 50632788 50632788 C T rs141611812 TRABD Synonymous SNV N44N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.391 318644 chr2 101086952 101086952 T C rs76201870 NMS Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 318645 chr2 101666894 101666894 C T rs570395629 TBC1D8 Nonsynonymous SNV D266N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 318646 chr16 88781285 88781285 G A CTU2 Nonsynonymous SNV C370Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.142 318647 chr2 113088896 113088896 G A ZC3H6 Nonsynonymous SNV G801S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.599 318648 chr16 30748482 30748482 C A rs142242633 SRCAP Nonsynonymous SNV T2374N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.1 318649 chr16 30762462 30762462 G A rs778737777 PHKG2 Nonsynonymous SNV R44Q 0 0.003 0 0 0 1 0 0 0 0 0 0 28 318650 chr16 30976085 30976085 C T rs138671480 SETD1A Nonsynonymous SNV S341F 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 318651 chr16 31098020 31098020 G A rs200094417 PRSS53 Nonsynonymous SNV P148S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 318652 chr17 10408351 10408351 G A rs772308871 MYH1 Nonsynonymous SNV R823C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 318653 chr16 31477805 31477805 G T rs372245661 ARMC5 Nonsynonymous SNV W801C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 318654 chr20 257988 257988 A G rs112677690 C20orf96 Nonsynonymous SNV I200T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 318655 chr2 128186300 128186300 G A rs373028935 PROC Synonymous SNV A388A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 318656 chr20 3017807 3017807 G A PTPRA Nonsynonymous SNV A727T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318657 chr2 131883372 131883372 G A PLEKHB2 Synonymous SNV S28S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 318658 chr2 135596266 135596266 T C rs199786838 ACMSD Nonsynonymous SNV I5T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.46 318659 chr20 33328279 33328279 G T rs775364207 NCOA6 Synonymous SNV I1927I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.967 318660 chr20 33574768 33574768 T C rs376040367 MYH7B Synonymous SNV D370D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 318661 chr5 112899160 112899160 A G YTHDC2 Nonsynonymous SNV I505V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.394 318662 chr20 372084 372084 C T rs752911865 TRIB3 Stop gain R149X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 318663 chr2 155158079 155158079 A G rs114820557 GALNT13 Nonsynonymous SNV D378G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 318664 chr20 42683046 42683046 C T rs182587475 TOX2 Synonymous SNV Y211Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 318665 chr16 3139427 3139427 G A rs538023779 ZSCAN10 Nonsynonymous SNV R276C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 318666 chr20 45131604 45131604 T C rs185355356 ZNF334 Nonsynonymous SNV N87S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 318667 chr16 58030468 58030468 C T rs761782365 ZNF319 Nonsynonymous SNV A568T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.72 318668 chr17 27837968 27837968 C T rs767709666 TAOK1 Synonymous SNV S554S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 318669 chr5 31983288 31983288 C T rs375900576 PDZD2 Synonymous SNV G168G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.54 318670 chr16 67236591 67236591 A C rs761918823 ELMO3 Nonsynonymous SNV E487A 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 318671 chr2 179201047 179201047 C T rs150369933 OSBPL6 Nonsynonymous SNV P205L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 318672 chr2 179408621 179408621 T C TTN Nonsynonymous SNV T23019A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 318673 chr16 68308687 68308687 A G rs773590135 SLC7A6 Nonsynonymous SNV S20G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.252 318674 chr17 29815280 29815280 T C rs868580453 RAB11FIP4 Nonsynonymous SNV L7P 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 318675 chr2 179428258 179428258 A G TTN Nonsynonymous SNV L18469P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 318676 chr16 70572291 70572291 G A rs577608310 SF3B3 Synonymous SNV S297S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.45 318677 chr16 71318991 71318991 G C rs769995707 CMTR2 Nonsynonymous SNV T278S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 318678 chr17 34893363 34893363 C T rs761046219 PIGW Nonsynonymous SNV A138V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.141 318679 chr17 35581988 35581988 G A rs752108139 ACACA Synonymous SNV R1038R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.222 318680 chr16 72142444 72142444 G A rs752923486 DHX38 Nonsynonymous SNV D1065N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 318681 chr17 38325619 38325619 G A rs773152440 CASC3 Nonsynonymous SNV A670T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 318682 chr2 201728929 201728929 C G CLK1 Synonymous SNV P7P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 318683 chr17 38990821 38990821 G A rs934820844 TMEM99 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 318684 chr16 71610168 71610168 T C TAT Nonsynonymous SNV K51E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 318685 chr2 20403919 20403919 C T rs961051783 SDC1 Synonymous SNV P94P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 318686 chr21 30339427 30339427 T G rs61472516 LTN1 Nonsynonymous SNV E462D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.09 318687 chr21 32554931 32554931 G A TIAM1 Synonymous SNV I873I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 318688 chr21 35893866 35893866 T C rs768823178 RCAN1 Nonsynonymous SNV K92E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 318689 chr16 88807911 88807911 C T rs1021076058 PIEZO1 Nonsynonymous SNV R147Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.236 318690 chr17 40939804 40939804 G C WNK4 Nonsynonymous SNV E248Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 318691 chr17 42734619 42734619 A G MEIOC Nonsynonymous SNV Y65C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 318692 chr5 112458396 112458396 C A rs752318366 MCC Nonsynonymous SNV V148F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 318693 chr17 42981818 42981818 C T rs371579424 FAM187A Synonymous SNV A207A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.02 318694 chr17 4434030 4434030 C T rs202089427 SPNS2 Nonsynonymous SNV T226M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 318695 chr21 46678453 46678453 T C rs2236445 LINC00334 0 0 0.007 0 0 0 0 2 0 0 1 0 0.351 318696 chr5 126746165 126746165 C T rs142947482 MEGF10 Synonymous SNV H334H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.92 318697 chr17 46690646 46690646 T C rs369933784 HOXB8 Nonsynonymous SNV Q217R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 318698 chr17 4846174 4846174 G A rs748652782 RNF167 Synonymous SNV P101P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 318699 chr17 11461403 11461403 G A SHISA6 Nonsynonymous SNV V429I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 318700 chr22 24982371 24982371 C G rs201864155 LRRC75B Nonsynonymous SNV S144T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.444 318701 chr22 26937153 26937153 G A rs751295840 TPST2 Synonymous SNV H148H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.823 318702 chr22 31658206 31658206 G A rs779494391 LIMK2 Nonsynonymous SNV R192H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 318703 chr22 32058156 32058156 C A PISD Synonymous SNV L13L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 318704 chr22 32909761 32909761 C G rs148792587 SYN3 Nonsynonymous SNV R553P 0 0 0.003 0 0 0 0 1 0 0 0 0 32 318705 chr22 35743105 35743105 C T rs144721465 TOM1 Nonsynonymous SNV S416F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 318706 chr17 70119972 70119972 C T SOX9 Nonsynonymous SNV A325V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 318707 chr2 37596913 37596913 G C QPCT Nonsynonymous SNV R270T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 318708 chr6 36492151 36492151 G C rs760749581 STK38 Synonymous SNV S91S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.465 318709 chr2 38527422 38527422 T G ATL2 Nonsynonymous SNV M203L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 318710 chr2 43937137 43937137 C T rs138839133 PLEKHH2 Nonsynonymous SNV L659F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 318711 chr2 44014389 44014389 A T rs377150715 DYNC2LI1 Synonymous SNV T77T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 318712 chr17 7252353 7252353 C T ACAP1 Nonsynonymous SNV A573V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 318713 chr17 73751288 73751288 G T rs767978153 ITGB4 Nonsynonymous SNV G1501C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 318714 chr5 171520780 171520780 G A rs752763522 STK10 Nonsynonymous SNV A397V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 318715 chr6 44218060 44218060 - G HSP90AB1 Frameshift insertion D228Gfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 318716 chr17 39645749 39645749 C G KRT36 Nonsynonymous SNV S123T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.928 318717 chr22 47022827 47022827 C T rs140068081 GRAMD4 Nonsynonymous SNV S70L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 318718 chr22 50636877 50636877 G A rs369539852 TRABD Nonsynonymous SNV A358T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 318719 chr22 50660254 50660254 G A rs1029892165 TUBGCP6 Nonsynonymous SNV S845F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.86 318720 chr2 79384728 79384728 C T rs199786695 REG3A Nonsynonymous SNV G144S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 318721 chr22 50750636 50750636 G T rs376393455 DENND6B Nonsynonymous SNV Q564K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.137 318722 chr17 41926243 41926243 T G rs200503531 CD300LG Nonsynonymous SNV S121A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.01 318723 chr17 40557027 40557027 G A CAVIN1 Nonsynonymous SNV A284V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 318724 chr2 88890040 88890040 T C rs759872794 EIF2AK3 Synonymous SNV T211T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.858 318725 chr17 4448966 4448966 C T rs754670204 MYBBP1A Nonsynonymous SNV R671Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 318726 chr17 41606542 41606542 G A ETV4 Synonymous SNV R120R 0.002 0 0 0 2 0 0 0 0 0 0 0 4.465 318727 chr17 42399071 42399071 G A rs146901450 SLC25A39 Nonsynonymous SNV T107I 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 318728 chr17 45017970 45017970 G C GOSR2 Synonymous SNV G163G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.671 318729 chr17 4711694 4711694 T C rs776589680 PLD2 Synonymous SNV S122S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.672 318730 chr17 80050388 80050388 G A FASN Synonymous SNV S324S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.043 318731 chr17 80018808 80018808 T C rs1032266304 DUS1L Nonsynonymous SNV E291G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 318732 chr17 80885793 80885793 C T rs35495421 TBCD Synonymous SNV A874A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 14.38 318733 chr2 128327387 128327387 C T rs190814907 MYO7B Nonsynonymous SNV T165M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318734 chr6 27834901 27834901 C G rs375871661 H1-5 Nonsynonymous SNV G136A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.255 318735 chr6 28244161 28244161 A G rs765558461 ZSCAN26 Nonsynonymous SNV Q34R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.491 318736 chr17 55195780 55195780 A G rs141664795 AKAP1 Nonsynonymous SNV S847G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 318737 chr3 123348518 123348518 G A rs777818668 MYLK-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.822 318738 chr2 152541384 152541384 C T rs758639063 NEB Nonsynonymous SNV V915I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.78 318739 chr3 126390618 126390618 A G rs188297989 NUP210P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.362 318740 chr2 162839740 162839740 G A SLC4A10 Synonymous SNV R1102R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 318741 chr17 63898308 63898308 C T rs180805977 CEP112 Nonsynonymous SNV E667K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 25.5 318742 chr3 129147298 129147299 AC - rs529820218 EFCAB12 F12Lfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 318743 chr18 48331702 48331702 C A MRO Nonsynonymous SNV R84I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 318744 chr18 5415926 5415926 G A EPB41L3 Nonsynonymous SNV A653V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 318745 chr2 170377462 170377462 A G KLHL41 Nonsynonymous SNV M552V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 318746 chr2 171573209 171573209 T G SP5 Synonymous SNV P164P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.248 318747 chr2 179404026 179404026 G A rs899971482 TTN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 318748 chr2 179437556 179437556 G A rs200028088 TTN Nonsynonymous SNV R15370C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 318749 chr3 14520671 14520671 T C SLC6A6 Nonsynonymous SNV V510A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 318750 chr18 61390274 61390274 T A rs773375640 SERPINB11 Nonsynonymous SNV S99T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 318751 chr2 182786931 182786931 C T rs145518704 ITPRID2 Nonsynonymous SNV T981M 0 0 0.003 0 0 0 0 1 0 0 0 0 25 318752 chr18 74607012 74607012 C T rs377594462 ZNF236 Synonymous SNV P487P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 318753 chr18 8394562 8394562 G A rs368527318 PTPRM Nonsynonymous SNV A1420T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 318754 chr17 7749910 7749910 A G KDM6B Nonsynonymous SNV Y188C 0 0.003 0 0 0 1 0 0 0 0 0 0 23 318755 chr3 185212463 185212463 C T rs551634374 TMEM41A Synonymous SNV S174S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.8 318756 chr19 1114241 1114241 C A rs775103299 SBNO2 Nonsynonymous SNV S632I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.716 318757 chr17 78188559 78188559 T C SGSH Nonsynonymous SNV I121V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.5 318758 chr17 78195589 78195589 C T rs368571336 SLC26A11 Nonsynonymous SNV P77L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 318759 chr17 78199667 78199667 C T rs150742595 SLC26A11 Nonsynonymous SNV P182L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 318760 chr19 1116881 1116881 C G rs749005949 SBNO2 Synonymous SNV R526R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.856 318761 chr2 203424512 203424512 C T rs150642992 BMPR2 Nonsynonymous SNV S987F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 318762 chr19 11977362 11977362 G A rs141997497 ZNF439 Stop gain W62X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 318763 chr17 80037123 80037123 C T rs747059037 FASN Nonsynonymous SNV E2478K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 318764 chr17 78064008 78064008 G A CCDC40 Nonsynonymous SNV C968Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 318765 chr3 194386348 194386348 T C LSG1 Nonsynonymous SNV I153M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.913 318766 chr17 81052151 81052151 C T rs752183689 METRNL Nonsynonymous SNV T256M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 318767 chr2 21233084 21233084 C T rs200106845 APOB Nonsynonymous SNV R2219H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.65 318768 chr2 21360582 21360582 C T rs574618755 TDRD15 Synonymous SNV V81V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.712 318769 chr19 15295222 15295222 G A rs142405648 NOTCH3 Nonsynonymous SNV P817L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.71 318770 chr19 1556211 1556211 G A MEX3D Nonsynonymous SNV A436V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.712 318771 chr2 219557328 219557328 A G STK36 Synonymous SNV P646P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.571 318772 chr3 33648943 33648943 C T rs370720523 CLASP2 Nonsynonymous SNV V254I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 318773 chr2 220115743 220115743 G A rs752808482 TUBA4A Synonymous SNV N211N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.147 318774 chr19 17374818 17374818 C G rs770842974 USHBP1 Nonsynonymous SNV G66R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.075 318775 chr3 40557722 40557722 C T rs748583593 ZNF620 Stop gain R99X 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 318776 chr2 227773569 227773569 A G RHBDD1 Synonymous SNV G229G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.987 318777 chr2 228396919 228396919 A G AGFG1 Nonsynonymous SNV T294A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.891 318778 chr19 17895610 17895610 T C rs201872695 FCHO1 Nonsynonymous SNV V718A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 318779 chr19 17953242 17953242 G T rs768699076 JAK3 Synonymous SNV A248A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.35 318780 chr18 43481063 43481063 G A rs199811412 EPG5 Nonsynonymous SNV T1515M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.418 318781 chr18 44572853 44572853 G A rs539259610 KATNAL2 Nonsynonymous SNV R26Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.35 318782 chr18 47438498 47438498 C T MYO5B Synonymous SNV K712K 0 0.003 0 0 0 1 0 0 0 0 0 0 14.38 318783 chr19 19369437 19369437 T C HAPLN4 Nonsynonymous SNV S238G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.39 318784 chr3 47446216 47446216 G A rs370261247 PTPN23 Synonymous SNV L78L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.256 318785 chr3 50155887 50155887 - GAGA rs762191784 RBM5 X816delinsX 0 0 0.007 0 0 0 0 2 0 0 0 0 318786 chr7 75511153 75511156 GGCT - RHBDD2 Stop gain L63* 0.001 0 0 0 1 0 0 0 0 0 0 0 318787 chr2 242793312 242793312 G A rs141228784 PDCD1 Synonymous SNV S255S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.551 318788 chr3 54661868 54661868 A G rs185055678 CACNA2D3 Nonsynonymous SNV I340V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 318789 chr19 33696397 33696397 G A rs781113491 LRP3 Nonsynonymous SNV G241S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.29 318790 chr3 58118581 58118581 C T rs954022382 FLNB Synonymous SNV H1479H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.2 318791 chr3 58490986 58490986 T C rs774482449 ACOX2 Nonsynonymous SNV R671G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 318792 chr2 27521572 27521572 G T rs750346891 TRIM54 Nonsynonymous SNV E102D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 318793 chr3 71247130 71247130 C T FOXP1 Synonymous SNV Q90Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.585 318794 chr19 36157760 36157762 GTG - UPK1A V17del 0.001 0 0 0 1 0 0 0 0 0 0 0 318795 chr19 36369490 36369490 C T APLP1 Synonymous SNV S528S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.74 318796 chr19 37038760 37038760 T C rs369987952 ZNF529 Nonsynonymous SNV N216D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.61 318797 chr19 39016132 39016132 G A rs143987857 RYR1 Nonsynonymous SNV R3534H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.1 318798 chr19 38875141 38875141 C T rs760187766 GGN Nonsynonymous SNV E624K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 318799 chr2 47049510 47049510 C T rs549076541 LINC01118 0 0 0.003 0 0 0 0 1 0 0 0 0 4.183 318800 chr2 48809239 48809239 G A rs147826910 STON1, STON1-GTF2A1L Synonymous SNV K489K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.616 318801 chr19 11348926 11348926 G C rs117437635 DOCK6 Synonymous SNV S566S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 318802 chr19 11688002 11688002 G A rs369804864 ACP5 Nonsynonymous SNV T44M 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 32 318803 chr19 12155522 12155523 AT - rs756252508 ZNF878 I231Mfs*25 0 0.003 0 0 0 1 0 0 0 0 0 0 318804 chr2 69709876 69709876 C T AAK1 Nonsynonymous SNV D812N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 318805 chr19 14520163 14520163 G A rs141070619 DDX39A Synonymous SNV I357I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.49 318806 chr19 44377475 44377475 T C rs777855419 ZNF404 Synonymous SNV K294K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.548 318807 chr2 74649290 74649290 T C rs370158222 WDR54 Nonsynonymous SNV W19R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.278 318808 chr19 44681791 44681791 C G ZNF226 Nonsynonymous SNV I792M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 318809 chr19 1556730 1556730 G C MEX3D Nonsynonymous SNV A263G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.235 318810 chr19 17088292 17088292 G A rs773333279 CPAMD8 Synonymous SNV A548A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.87 318811 chr3 100963125 100963125 C T rs758509749 IMPG2 Nonsynonymous SNV G684R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.309 318812 chr19 17132951 17132951 C T rs574270835 CPAMD8 Nonsynonymous SNV V45M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 318813 chr7 88964950 88964950 A G rs758550618 ZNF804B Nonsynonymous SNV K885R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 318814 chr3 115529252 115529252 G A rs759178720 LSAMP Nonsynonymous SNV S310L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 318815 chr19 18547004 18547004 C T rs765710672 ISYNA1 Synonymous SNV E143E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 318816 chr19 19049574 19049574 C T HOMER3 Nonsynonymous SNV R45H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 318817 chr19 48908356 48908356 C G rs377156868 GRIN2D Synonymous SNV P277P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.48 318818 chr4 20618634 20618634 C A SLIT2 Nonsynonymous SNV L1313M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 318819 chr19 49422061 49422061 C T NUCB1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.777 318820 chr4 25157717 25157717 C T rs587780457 SEPSECS Synonymous SNV K163K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.72 318821 chr19 51914516 51914516 G A rs200329927 SIGLEC10 Nonsynonymous SNV P401L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 318822 chr19 50905285 50905285 C T POLD1 Stop gain Q165X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 318823 chr19 35828838 35828838 C T CD22 Nonsynonymous SNV T128I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 318824 chr4 42509067 42509067 A G rs149361269 ATP8A1 Synonymous SNV L669L 0 0 0.007 0 0 0 0 2 0 0 0 0 8.32 318825 chr19 51527939 51527939 A G rs967108356 KLK11 Nonsynonymous SNV L51P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 318826 chr4 436460 436460 T G rs781830318 ZNF721 Nonsynonymous SNV D599A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.232 318827 chr19 52383656 52383656 - G rs761121497 ZNF577 0.001 0 0 0 1 0 0 0 0 0 0 0 318828 chr19 52619986 52619986 A T rs777821035 ZNF616 Nonsynonymous SNV F144Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.575 318829 chr4 5990868 5990868 - CT rs746712247 C4orf50 Frameshift insertion V790Rfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 318830 chr3 142720301 142720301 G A LOC100289361 0 0 0.003 0 0 0 0 1 0 0 0 0 7.977 318831 chr19 39195653 39195653 C T rs202175464 ACTN4 Synonymous SNV S159S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 318832 chr4 659104 659104 G T rs200667817 PDE6B Nonsynonymous SNV D367Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 318833 chr3 15282054 15282054 A G rs143794211 CAPN7 Synonymous SNV V494V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 318834 chr7 133002126 133002126 A G rs776194165 EXOC4 Nonsynonymous SNV T249A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.466 318835 chr19 42485741 42485741 G C ATP1A3 Nonsynonymous SNV I461M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 318836 chr19 56172552 56172552 T C rs376297665 U2AF2 Synonymous SNV T161T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.852 318837 chr4 995783 995783 C G rs202051939 IDUA Nonsynonymous SNV S137C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 318838 chr5 102345549 102345549 C A rs756154455 PAM Nonsynonymous SNV D663E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 318839 chr8 30694474 30694474 A G TEX15 Nonsynonymous SNV F3109S 0.002 0 0 0 2 0 0 0 0 0 0 0 24 318840 chr5 111504710 111504710 G C EPB41L4A Stop gain S611X 0 0 0.003 0 0 0 0 1 0 0 0 0 51 318841 chr19 5867086 5867086 C G rs189013086 FUT5 Synonymous SNV S217S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.977 318842 chr19 46376192 46376192 T C rs958394110 FOXA3 Nonsynonymous SNV M310T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 318843 chr8 65493731 65493731 G C rs762310560 BHLHE22 Nonsynonymous SNV K128N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 318844 chr5 128368820 128368820 A G rs762242061 SLC27A6 Nonsynonymous SNV T569A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 318845 chr19 46832663 46832663 C T rs750141816 HIF3A Nonsynonymous SNV P478L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 318846 chr8 69002914 69002914 C T rs142600924 PREX2 Synonymous SNV H738H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.19 318847 chr19 59056831 59056831 A G rs147833197 TRIM28 Nonsynonymous SNV K127R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 318848 chr19 59061785 59061785 C T rs1065354 TRIM28 Synonymous SNV F791F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 318849 chr5 135416287 135416287 G A VTRNA2-1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.586 318850 chr8 2026830 2026830 G C rs760533934 MYOM2 Synonymous SNV T426T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.782 318851 chr19 48800725 48800725 G A rs73585332 CCDC114 Synonymous SNV A507A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.934 318852 chr19 48805977 48805977 C T rs73585360 CCDC114 Nonsynonymous SNV R368Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.67 318853 chr19 48837413 48837413 C T rs145918989 TMEM143 Synonymous SNV A239A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.6 318854 chr3 25705734 25705734 C T rs777837072 TOP2B Nonsynonymous SNV A19T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 318855 chr19 48876888 48876888 G A rs112088613 SYNGR4 Nonsynonymous SNV V70M 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 318856 chr19 48967774 48967774 C T rs202102345 KCNJ14 Nonsynonymous SNV R351C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 318857 chr8 8234868 8234868 - GCCTCT PRAG1, PRAG1 G350_A351insRG 0.001 0 0 0 1 0 0 0 0 0 0 0 318858 chr3 38167826 38167826 G C ACAA1 Nonsynonymous SNV S275C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 318859 chr5 140719317 140719317 G A rs201553091 PCDHGA2 Nonsynonymous SNV R260Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.769 318860 chr5 140736562 140736562 G T rs372951385 PCDHGA4 Nonsynonymous SNV G630C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 318861 chr5 140754361 140754361 C G rs369215509 PCDHGA6 Nonsynonymous SNV D237E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 318862 chr19 877076 877076 G A rs186638145 MED16 Synonymous SNV Y486Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.009 318863 chr5 145894982 145894982 C T rs753465981 GPR151 Nonsynonymous SNV R232Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 318864 chr19 50985424 50985424 G A rs199737169 EMC10 Nonsynonymous SNV V233I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.97 318865 chr19 51169830 51169830 C T rs200473891 SHANK1 Nonsynonymous SNV G1796E 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 20.5 318866 chr19 5119802 5119802 - GAG rs749129991 KDM4B E424_P425insE 0 0.003 0 0 0 1 0 0 0 0 0 0 318867 chr3 44903403 44903403 T A MIR564 0 0 0.003 0 0 0 0 1 0 0 0 0 9.102 318868 chr19 9067315 9067315 G T rs570001185 MUC16 Nonsynonymous SNV P6711T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 318869 chr8 27779492 27779492 C T rs768641266 SCARA5 Nonsynonymous SNV R171Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 318870 chr3 49041654 49041654 G C rs772495029 P4HTM Nonsynonymous SNV G283A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 318871 chr19 53611816 53611819 TTTT - ZNF415 E263Dfs*23 0.001 0 0 0 1 0 0 0 0 0 0 0 318872 chr19 53611820 53611820 - GGGG ZNF415 Frameshift insertion E263Afs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 318873 chr3 52563210 52563210 C T rs141804495 NT5DC2 Nonsynonymous SNV E125K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 318874 chr5 176930197 176930197 T C rs917212121 DOK3 Nonsynonymous SNV K179R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.961 318875 chr1 110882732 110882732 A G rs148119227 RBM15 Synonymous SNV R235R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.03 318876 chr1 110923702 110923702 C T SLC16A4 Nonsynonymous SNV R33Q 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 318877 chr1 111494471 111494471 C T rs572605758 LRIF1 Synonymous SNV T345T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.364 318878 chr5 180551622 180551622 C T rs372188191 OR2V1 Nonsynonymous SNV R228Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.208 318879 chr3 58083568 58083568 C T rs772334350 FLNB Synonymous SNV H337H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 318880 chr9 6981108 6981108 G T rs758425089 KDM4C Nonsynonymous SNV A188S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.494 318881 chr8 98817692 98817692 - ACAT rs760065969 LAPTM4B Frameshift insertion M72Ifs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 318882 chr8 98817693 98817693 - TGCATTGCCATTGCGATTTCTCTTCTCATGATCCTGA rs752239561 LAPTM4B 0.001 0 0 0 1 0 0 0 0 0 0 0 318883 chr5 40959661 40959661 T A rs769454744 C7 Nonsynonymous SNV S534T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 318884 chr5 41005716 41005716 G A MROH2B Synonymous SNV L1261L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.245 318885 chr4 10446281 10446281 T G rs142943850 ZNF518B Nonsynonymous SNV K558Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.087 318886 chr5 54527416 54527416 A C CCNO Synonymous SNV P280P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.202 318887 chr19 6214021 6214021 T G rs372950224 MLLT1 Nonsynonymous SNV N446H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 318888 chr5 66481751 66481751 A G CD180 Nonsynonymous SNV F62S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 318889 chr5 71015214 71015214 G A rs77879475 CARTPT Nonsynonymous SNV E32K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.8 318890 chr1 153906726 153906726 A G rs745656809 DENND4B Synonymous SNV T953T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.697 318891 chr1 154314970 154314970 G A rs201587979 ATP8B2 Nonsynonymous SNV V439I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 318892 chr19 8150346 8150346 G A rs372443838 FBN3 Nonsynonymous SNV R2330W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 318893 chr4 126398389 126398389 G A rs761178590 FAT4 Nonsynonymous SNV V4127M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 318894 chr4 134072554 134072554 C T rs759185294 PCDH10 Nonsynonymous SNV P420L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 318895 chr19 59061128 59061128 C T TRIM28 Synonymous SNV C669C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.55 318896 chr9 101056093 101056093 A G GABBR2 Synonymous SNV P878P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.088 318897 chr1 15821937 15821937 G A CASP9 Synonymous SNV D143D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 318898 chr4 152499077 152499077 A G FAM160A1 Nonsynonymous SNV N194S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 318899 chr1 159906694 159906694 G A IGSF9 Synonymous SNV P135P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 318900 chr4 157771470 157771470 A G rs780537434 PDGFC Synonymous SNV L73L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.82 318901 chr1 162344175 162344175 G A rs773072702 SPATA46 Nonsynonymous SNV P150L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 318902 chr6 107780479 107780479 C G rs3734676 PDSS2 Nonsynonymous SNV R4P 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23.9 318903 chr6 107780483 107780483 A G rs3734675 PDSS2 Nonsynonymous SNV F3L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23.4 318904 chr1 167343506 167343506 C T rs941772411 POU2F1 Synonymous SNV P177P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.78 318905 chr4 175224971 175224971 A C rs75428449 CEP44 Nonsynonymous SNV K119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 318906 chr4 175577923 175577923 G A rs376928957 GLRA3 Synonymous SNV L363L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.687 318907 chr1 113933675 113933675 A G rs189539763 MAGI3 Nonsynonymous SNV K7R 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 318908 chr9 37746398 37746398 G A rs372848243 FRMPD1 Nonsynonymous SNV E1457K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 318909 chr6 146276263 146276263 C A rs142581081 SHPRH Nonsynonymous SNV A66S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 318910 chr4 3447879 3447879 C T rs201570052 HGFAC Nonsynonymous SNV R405W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 318911 chr1 183096434 183096434 C G rs61749261 LAMC1 Synonymous SNV G1006G 0.002 0 0 0 2 0 0 0 1 0 0 0 14.23 318912 chr1 183486888 183486888 C T rs776202694 SMG7 Nonsynonymous SNV P40L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 318913 chr9 132982011 132982011 G A rs200938140 NCS1 Nonsynonymous SNV R61Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 318914 chr6 151209024 151209024 T C rs756999531 MTHFD1L Synonymous SNV H230H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 318915 chr9 133779465 133779465 G A rs377424705 FIBCD1 Nonsynonymous SNV R458W 0.002 0 0 0 2 0 0 0 0 0 0 0 33 318916 chr1 186295330 186295332 TCA - rs748538527 TPR D1975del 0.001 0 0 0 1 0 0 0 0 0 0 0 318917 chr1 109242622 109242622 A G rs200836277 PRPF38B Nonsynonymous SNV N396D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 318918 chr6 152826408 152826408 G A SYNE1 Stop gain R243X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318919 chr9 135221791 135221791 C T rs201864041 SETX Nonsynonymous SNV G82E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.78 318920 chr1 203148698 203148698 C T rs114984905 CHI3L1 Nonsynonymous SNV D343N 0.002 0 0 0 2 0 0 0 0 0 0 0 12.69 318921 chr1 114511181 114511181 C T rs768754129 HIPK1 Synonymous SNV I500I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 318922 chr9 107528650 107528650 G A rs117167547 NIPSNAP3B Synonymous SNV T35T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.588 318923 chr9 140242593 140242593 C T rs376214483 EXD3 Nonsynonymous SNV R643Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 318924 chr6 24830741 24830741 G C RIPOR2 Nonsynonymous SNV D834E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 318925 chr6 25515957 25515957 A G CARMIL1 Nonsynonymous SNV I563V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 318926 chr9 140327669 140327669 - G rs773184989 NOXA1 Frameshift insertion P235Afs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 318927 chr6 26056141 26056141 C T rs762627426 HIST1H1C Synonymous SNV K172K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.121 318928 chr6 26189227 26189227 A G rs201162303 HIST1H4D Synonymous SNV N26N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 318929 chr4 71654576 71654576 G T RUFY3 Nonsynonymous SNV L375F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 318930 chr4 77082897 77082897 G A rs752295374 SCARB2 Nonsynonymous SNV A326V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 318931 chr1 160011956 160011956 G C KCNJ10 Nonsynonymous SNV L123V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 318932 chr1 217915336 217915336 G A rs779598293 SPATA17 Nonsynonymous SNV A139T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 318933 chr1 21904140 21904140 G - rs764994176 ALPL X448X 0.001 0 0 0 1 0 0 0 0 0 0 0 318934 chr1 22176587 22176587 G T rs756381976 HSPG2 Nonsynonymous SNV H2466N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.453 318935 chr1 221912472 221912472 C T rs138642178 DUSP10 Synonymous SNV L205L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.888 318936 chr10 13264153 13264153 G A rs772050904 UCMA Nonsynonymous SNV H69Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 318937 chr10 15648343 15648343 C T ITGA8 Nonsynonymous SNV E600K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 318938 chr4 8869767 8869767 G C HMX1 Synonymous SNV R233R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 318939 chr6 37336906 37336906 A G rs938824125 RNF8 Nonsynonymous SNV Q296R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 318940 chr1 227770229 227770230 TA - rs775225357 ZNF678 M16Vfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 318941 chr9 134039507 134039507 C T rs572579627 NUP214 Nonsynonymous SNV P947S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 318942 chr5 1063087 1063087 C T rs556092857 MIR4635 0 0 0.003 0 0 0 0 1 0 0 0 0 6.637 318943 chr5 110842033 110842033 T C rs377260389 STARD4 Synonymous SNV G50G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.431 318944 chr9 135973989 135973989 G A rs190743751 RALGDS Synonymous SNV A855A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 318945 chr6 43322421 43322421 C T rs753586964 ZNF318 Nonsynonymous SNV R884H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 318946 chr6 46047835 46047835 T G rs768731721 CLIC5 Nonsynonymous SNV T49P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.234 318947 chr9 136522358 136522358 T A rs745670077 DBH-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 5.307 318948 chr1 1875804 1875804 G A rs866485701 CFAP74 Nonsynonymous SNV R818W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 318949 chr6 52958357 52958357 C T rs767303732 FBXO9 Synonymous SNV T329T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 318950 chr10 61834658 61834658 G A rs141251507 ANK3 Nonsynonymous SNV S1994L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.5 318951 chr6 56347594 56347594 G A DST Nonsynonymous SNV R4474W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 318952 chr10 64974224 64974224 T A rs201464655 JMJD1C Nonsynonymous SNV D349V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.72 318953 chr6 64404642 64404642 G C rs35547668 PHF3 Nonsynonymous SNV A802P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 318954 chr5 139260459 139260459 G A rs774237401 NRG2 Nonsynonymous SNV R325W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318955 chr9 140331413 140331413 C T rs143455567 ENTPD8 Nonsynonymous SNV V155M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 318956 chr6 74524799 74524799 A G CD109 Synonymous SNV K1211K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 318957 chr5 140474389 140474389 G A PCDHB2 Synonymous SNV E5E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.88 318958 chr6 7584300 7584300 A G DSP Nonsynonymous SNV K1670E 0 0 0.003 0 0 0 0 1 0 0 0 0 22 318959 chr6 7880470 7880470 C T rs145889374 BMP6 Nonsynonymous SNV A479V 0 0 0.003 0 0 0 0 1 0 0 0 0 35 318960 chr1 205633751 205633751 G A rs201324256 SLC45A3 Nonsynonymous SNV R12W 0 0.003 0 0 0 1 0 0 0 0 0 0 31 318961 chr1 175360531 175360531 G A rs753755790 TNR Nonsynonymous SNV T134M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 318962 chr10 7765492 7765492 G A rs201633814 ITIH2 Nonsynonymous SNV D316N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 318963 chr5 14714762 14714762 T C LOC100130744 0 0 0.003 0 0 0 0 1 0 0 0 0 0.708 318964 chr5 147845463 147845463 G A rs73266449 HTR4 Nonsynonymous SNV L368F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.315 318965 chr5 148627412 148627412 A G rs760783998 ABLIM3 Nonsynonymous SNV D429G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 318966 chr1 3422113 3422113 C T rs116651284 MEGF6 Synonymous SNV P642P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.66 318967 chr1 3431138 3431138 C A rs200914366 MEGF6 Nonsynonymous SNV A277S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.1 318968 chr1 3563263 3563263 G A rs773147244 WRAP73 Synonymous SNV D102D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 318969 chr1 35852622 35852622 A C ZMYM4 Nonsynonymous SNV T295P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.352 318970 chr5 150911435 150911435 A G rs774864012 FAT2 Nonsynonymous SNV L3175P 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 318971 chr1 22161283 22161283 C T rs145048530 HSPG2 Nonsynonymous SNV G3538R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 318972 chr10 49812810 49812810 C T rs754956322 ARHGAP22 Nonsynonymous SNV R11K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 318973 chr1 43806058 43806058 T A MPL Nonsynonymous SNV V285E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.816 318974 chr10 50122054 50122054 A G LRRC18 Synonymous SNV L49L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.028 318975 chr1 45266166 45266166 C T PLK3 Nonsynonymous SNV R11C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 318976 chr1 44604672 44604672 A G KLF18 Nonsynonymous SNV Y878H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.288 318977 chr5 167957134 167957134 G A rs527665800 FBLL1 Nonsynonymous SNV G209S 0 0 0.007 0 0 0 0 2 0 0 0 0 31 318978 chr10 50954019 50954019 C T OGDHL Nonsynonymous SNV G225E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 318979 chr10 52573740 52573740 A G A1CF Synonymous SNV G400G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 318980 chr7 100647893 100647893 A G rs935448984 MUC12 Synonymous SNV S4683S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.29 318981 chr7 102098340 102098340 C T rs145100726 ALKBH4 Nonsynonymous SNV R137Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.67 318982 chr5 176671221 176671221 A G rs141911573 NSD1 Nonsynonymous SNV N1443S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.14 318983 chr7 103194254 103194254 A G rs149837553 RELN Nonsynonymous SNV V1941A 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 23.9 318984 chr5 177034441 177034441 C T rs371253299 B4GALT7 Synonymous SNV H184H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 318985 chr5 178199619 178199619 C T rs115651366 AACSP1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.58 318986 chr5 178202278 178202278 G A rs80214761 AACSP1 0 0 0.007 0 0 0 0 2 0 0 0 0 7.028 318987 chr7 121652927 121652927 G A PTPRZ1 Nonsynonymous SNV S1276N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 318988 chr7 122028695 122028695 G A CADPS2 Nonsynonymous SNV H990Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 318989 chr7 122338019 122338019 T C RNF133 Synonymous SNV Q318Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 318990 chr10 121586787 121586787 A C INPP5F Nonsynonymous SNV Q355P 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 318991 chr10 75525924 75525924 G C rs200985881 SEC24C Nonsynonymous SNV R521S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 318992 chr10 75849902 75849902 G A rs754046223 VCL Nonsynonymous SNV R433H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 318993 chr1 67861690 67861690 C G rs147267211 IL12RB2 Nonsynonymous SNV S750C 0.001 0 0 0 1 0 0 0 0 0 0 0 21 318994 chr1 70501873 70501873 C T rs150040000 LRRC7 Synonymous SNV L690L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.524 318995 chr1 70611540 70611540 T C rs151110994 LRRC40 Nonsynonymous SNV I584M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 318996 chr5 37875870 37875870 A G GDNF-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 318997 chr1 8419844 8419844 G A rs780566861 RERE Nonsynonymous SNV R646C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 318998 chr7 138432180 138432180 G A rs762946484 ATP6V0A4 Nonsynonymous SNV T437I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.77 318999 chr1 85647905 85647905 A G rs41289745 SYDE2 Nonsynonymous SNV I807T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 319000 chr1 224415354 224415354 G A rs750385827 NVL Nonsynonymous SNV R660C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 319001 chr1 86919233 86919233 G A CLCA2 Synonymous SNV E779E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.432 319002 chr5 41181481 41181481 T C rs373785785 C6 Nonsynonymous SNV I303V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.652 319003 chr1 87346410 87346410 - TTTTGGTTTCAAATTGTGCTTCCTCCTGACAGCATCCTCTGCAATCAGGATCC SELENOF 0.001 0 0 0 1 0 0 0 0 0 0 0 319004 chr5 476715 476715 C T rs777203358 SLC9A3 Synonymous SNV A602A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.576 319005 chr7 142638464 142638464 C T rs148753837 KEL Nonsynonymous SNV D692N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 319006 chr10 99126302 99126302 G A rs578010790 RRP12 Nonsynonymous SNV R998W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 319007 chr5 5318365 5318365 C A rs200916127 ADAMTS16 Nonsynonymous SNV T1177N 0.002 0 0.003 0 2 0 0 1 0 0 0 0 26.2 319008 chr1 28176839 28176839 T C rs780719637 PPP1R8 Nonsynonymous SNV M89T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.054 319009 chr10 100159989 100159989 C T rs376182470 PYROXD2 Nonsynonymous SNV R114Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 319010 chr5 63986485 63986485 A G rs763449955 SHISAL2B Nonsynonymous SNV Y12C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 319011 chr20 1187535 1187535 A G C20orf202 Nonsynonymous SNV Q53R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 319012 chr1 36437636 36437636 C T rs749037768 AGO3 Synonymous SNV D108D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.52 319013 chr7 150696067 150696067 G A rs139184126 NOS3 Nonsynonymous SNV G284S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 319014 chr10 115889704 115889704 T C rs137984245 CCDC186 Nonsynonymous SNV S710G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 319015 chr1 45292181 45292181 - T PTCH2 Frameshift insertion N985Kfs*47 0.001 0 0 0 1 0 0 0 0 0 0 0 319016 chr20 25269061 25269061 G C rs140645272 PYGB Nonsynonymous SNV R590P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 319017 chr11 1272554 1272554 C T rs199943848 MUC5B Nonsynonymous SNV T4815M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 319018 chr1 53556286 53556286 G A SLC1A7 Synonymous SNV I336I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.5 319019 chr20 3180724 3180724 G A rs79512666 DDRGK1 Nonsynonymous SNV R145W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 319020 chr20 43561724 43561724 G A rs760113981 PABPC1L Nonsynonymous SNV V453I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.768 319021 chr6 107361044 107361044 G A MTRES1 Nonsynonymous SNV R27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 319022 chr1 75171997 75171997 T - rs762295471 CRYZ Stop gain M188* 0 0.003 0 0 0 1 0 0 0 0 0 0 319023 chr6 111368202 111368202 A G rs553974306 GSTM2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.144 319024 chr7 49951754 49951754 C T rs148276137 VWC2 Synonymous SNV C317C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 319025 chr1 33478899 33478899 G A rs138151595 AK2 Synonymous SNV Y159Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.217 319026 chr20 57563977 57563977 G A rs139317340 NELFCD Synonymous SNV A135A 0.001 0 0 0 1 0 0 0 0 0 0 0 11 319027 chr20 58514195 58514195 G A rs146169621 PPP1R3D Synonymous SNV A264A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 319028 chr1 34684296 34684296 G A rs143754417 C1orf94 Synonymous SNV S577S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.344 319029 chr20 60791591 60791591 A G rs755046162 HRH3 Nonsynonymous SNV M270T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.609 319030 chr6 131247800 131247800 T C rs774463569 EPB41L2 Nonsynonymous SNV N252S 0 0 0.007 0 0 0 0 2 0 0 1 0 23.5 319031 chr6 134350401 134350401 C T rs149397156 SLC2A12 Nonsynonymous SNV A188T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 319032 chr1 95657236 95657236 G A rs377509074 TLCD4 Nonsynonymous SNV V202M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 319033 chr6 139186191 139186191 C T rs566762327 ECT2L Synonymous SNV C450C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.297 319034 chr6 142691836 142691836 C T rs766971711 ADGRG6 Synonymous SNV L325L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.113 319035 chr6 152489337 152489337 - ATGA SYNE1 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 319036 chr21 28213333 28213333 A C rs149707533 ADAMTS1 Nonsynonymous SNV F454L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 319037 chr20 25038485 25038485 G T rs141052908 ACSS1 Nonsynonymous SNV T85N 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 319038 chr8 101270831 101270831 A G RNF19A Nonsynonymous SNV S824P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 319039 chr21 40834467 40834467 A G rs201912802 SH3BGR, WRB-SH3BGR Nonsynonymous SNV N23S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 319040 chr20 3766685 3766685 C T rs771677387 CENPB Nonsynonymous SNV R149H 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 319041 chr8 118819520 118819520 C T EXT1 Nonsynonymous SNV G607R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 319042 chr21 45826647 45826647 C T rs147950813 TRPM2 Synonymous SNV D987D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.386 319043 chr8 12594448 12594448 C T rs1034524482 LONRF1 Nonsynonymous SNV V439I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 319044 chr6 170563455 170563455 C T rs9356627 LOC154449 0 0 0.003 0 0 0 0 1 0 0 0 0 5.943 319045 chr6 17625013 17625013 G C NUP153 Nonsynonymous SNV A1276G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 319046 chr1 67425362 67425362 A C MIER1 Nonsynonymous SNV N159T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 319047 chr21 47754410 47754410 A G rs57603484 PCNT Nonsynonymous SNV S5G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 319048 chr1 74665402 74665402 A T rs200157650 FPGT, FPGT-TNNI3K Nonsynonymous SNV D59V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 319049 chr21 48071838 48071838 C T rs371358050 PRMT2 Nonsynonymous SNV L259F 0.001 0 0 0 1 0 0 0 0 0 0 0 3.838 319050 chr6 24596729 24596729 G A rs771546218 KIAA0319 Nonsynonymous SNV T13M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 319051 chr1 76216194 76216194 C T rs868408282 ACADM Nonsynonymous SNV A114V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 319052 chr1 76288235 76288235 A G MSH4 Synonymous SNV Q377Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.951 319053 chr20 56071417 56071417 G A rs992609547 CTCFL Synonymous SNV S664S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.994 319054 chr8 139610999 139610999 G C COL22A1 Nonsynonymous SNV P1443R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 319055 chr8 142229121 142229121 G A rs151249043 SLC45A4 Synonymous SNV G155G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.492 319056 chr1 86249997 86249997 C T rs374842121 COL24A1 Nonsynonymous SNV R671Q 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 319057 chr22 24717587 24717587 G A SPECC1L Synonymous SNV L213L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.762 319058 chr8 144671963 144671963 C T rs762354014 EEF1D Nonsynonymous SNV G97S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 319059 chr22 30733120 30733120 C G SF3A1 Nonsynonymous SNV M667I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 319060 chr6 34824130 34824130 C T rs370747293 UHRF1BP1 Nonsynonymous SNV T412M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.232 319061 chr20 9495490 9495490 C A rs372081755 LAMP5-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 8.536 319062 chr8 145165847 145165847 G A rs746916764 WDR97 Nonsynonymous SNV R751H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 319063 chr22 37770356 37770356 C T rs141391258 ELFN2 Nonsynonymous SNV G407S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 319064 chr22 38121545 38121545 T A rs746686040 TRIOBP Synonymous SNV P994P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.713 319065 chr21 38560866 38560866 C G rs148719957 TTC3 Nonsynonymous SNV A943G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 14.5 319066 chr11 14501166 14501166 A C rs140633619 COPB1 Nonsynonymous SNV M436R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 319067 chr8 22424682 22424682 T C rs148389325 SORBS3 Synonymous SNV Y91Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 15.03 319068 chr21 44324133 44324133 C T rs201245444 NDUFV3 Synonymous SNV P337P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 319069 chr20 20350210 20350210 C T rs373203712 INSM1 Synonymous SNV G433G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 319070 chr8 2876022 2876022 C T CSMD1 Nonsynonymous SNV S2669N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 319071 chr6 74161454 74161454 G C rs772276292 CGAS Nonsynonymous SNV P151A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 319072 chr2 105713801 105713801 C T rs117121199 MRPS9-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 3.002 319073 chr8 48308945 48308945 A G rs868965083 SPIDR Nonsynonymous SNV I15V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 319074 chr8 61761616 61761616 C T rs16926499 CHD7 Synonymous SNV A1769A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.97 319075 chr11 47202044 47202044 G A rs146380567 PACSIN3 Nonsynonymous SNV R137C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 319076 chr2 11758491 11758491 C T rs114783798 GREB1 Nonsynonymous SNV R1164C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.85 319077 chr22 43015940 43015940 C T rs775763227 CYB5R3 Nonsynonymous SNV G249S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 319078 chr22 46688740 46688740 C T rs754965371 TTC38 Nonsynonymous SNV R457W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 319079 chr2 168102222 168102222 T C rs754409618 XIRP2 Synonymous SNV S1218S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.178 319080 chr7 100696381 100696381 G T rs757461644 MUC17 Synonymous SNV L4406L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.376 319081 chr9 116930346 116930346 G T COL27A1 Nonsynonymous SNV V171L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 319082 chr7 103969248 103969248 T C rs964771912 LHFPL3 Synonymous SNV A7A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.56 319083 chr11 56310617 56310617 C G rs778089844 OR5M11 Synonymous SNV L39L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 319084 chr2 175618962 175618962 G A rs186421442 CHRNA1 Synonymous SNV V175V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.63 319085 chr2 176947129 176947129 C T rs768217775 EVX2 Nonsynonymous SNV G159D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 319086 chr11 78413161 78413161 A G rs377033697 TENM4 Synonymous SNV T1499T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 319087 chr7 113518175 113518175 C T rs374950521 PPP1R3A Nonsynonymous SNV R991K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 319088 chr7 116339827 116339827 C T rs587780740 MET Nonsynonymous SNV T230M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.9 319089 chr9 124751951 124751951 G A rs201284458 TTLL11 Synonymous SNV D354D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.935 319090 chr11 57263616 57263620 CCACA - rs766829618 SLC43A1 V193Lfs*32 0.001 0 0 0 1 0 0 0 0 0 0 0 319091 chr9 125424094 125424094 A G rs139450545 OR1L1 Nonsynonymous SNV I34V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.976 319092 chr7 127235739 127235739 C G FSCN3 Nonsynonymous SNV L175V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 319093 chr7 127235902 127235902 A T FSCN3 Nonsynonymous SNV D229V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 319094 chr7 127724809 127724809 G A rs375174369 SND1 Nonsynonymous SNV R715H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 319095 chr9 127570103 127570103 C A rs143496997 OLFML2A Synonymous SNV P190P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.33 319096 chr7 138564327 138564327 C T rs748841862 KIAA1549 Synonymous SNV P1434P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 319097 chr2 198650726 198650726 A G BOLL Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 319098 chr2 128477486 128477486 T C WDR33 Nonsynonymous SNV M705V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.974 319099 chr2 129075951 129075951 G T rs61732017 HS6ST1 Nonsynonymous SNV H63N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 319100 chr21 44486408 44486408 G A rs754758476 CBS, CBSL Synonymous SNV R27R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.081 319101 chr11 62370091 62370091 G C rs757062449 EML3 Nonsynonymous SNV R814G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 319102 chr7 141672657 141672657 C T rs535263893 TAS2R38 Nonsynonymous SNV G278E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 319103 chr2 141641451 141641451 T C rs142437710 LRP1B Synonymous SNV L1368L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.438 319104 chr11 64882228 64882228 G A rs183249527 TM7SF2 Nonsynonymous SNV R216Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 319105 chr2 21234793 21234793 T C APOB Synonymous SNV Q1649Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 319106 chr7 151504560 151504560 T C rs377722976 LOC644090 Nonsynonymous SNV W82R 0 0 0.007 0 0 0 0 2 0 0 0 0 4.013 319107 chr2 219903756 219903756 G T rs201461858 CFAP65 Synonymous SNV T5T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.361 319108 chr7 16817486 16817486 C A TSPAN13 Nonsynonymous SNV L126I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 319109 chr2 225781425 225781425 A G DOCK10 Nonsynonymous SNV L101S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 319110 chr9 214889 214889 G A DOCK8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 319111 chr9 26919341 26919341 G T PLAA Nonsynonymous SNV L462I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.73 319112 chr7 2577858 2577858 C A rs765459628 BRAT1 Nonsynonymous SNV A596S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.117 319113 chr11 71196643 71196643 G A rs780245894 NADSYN1 Nonsynonymous SNV R504Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 319114 chr7 27285687 27285687 C G rs777473709 EVX1 Synonymous SNV A107A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 319115 chr2 231973844 231973844 G A rs753803744 HTR2B Nonsynonymous SNV P278L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 319116 chr7 29440434 29440434 C T rs375395261 CHN2 Nonsynonymous SNV A154V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 319117 chr2 233349943 233349943 G A rs145578067 ECEL1 Nonsynonymous SNV T274I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 319118 chr9 35102806 35102806 A C rs746333502 STOML2 Synonymous SNV A20A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.383 319119 chr2 233409156 233409156 C T rs145433186 CHRNG Nonsynonymous SNV S372F 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.34 319120 chr2 233708863 233708863 G A rs147451955 GIGYF2 Synonymous SNV T993T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.453 319121 chr2 190670389 190670389 A G rs146515816 PMS1 Synonymous SNV T48T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.04 319122 chr7 36194350 36194350 C G rs756923975 EEPD1 Nonsynonymous SNV I139M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 319123 chr22 30921612 30921612 C T rs749523382 SEC14L6 Synonymous SNV P299P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 319124 chr22 31672778 31672778 C A rs371660726 LIMK2 Synonymous SNV A571A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.72 319125 chr2 203420072 203420072 A G BMPR2 Nonsynonymous SNV I562V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.41 319126 chr7 44155367 44155367 A T rs371895239 POLD2 Nonsynonymous SNV L382Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 319127 chr9 79828205 79828205 A G VPS13A Nonsynonymous SNV Y224C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 319128 chr11 111229531 111229531 T C rs116229465 POU2AF1 Synonymous SNV A43A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.646 319129 chr2 30457324 30457324 C A rs145004709 LBH Nonsynonymous SNV P27H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 319130 chrX 128692611 128692611 G A rs199624352 OCRL Synonymous SNV G147G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.626 319131 chr7 76982302 76982302 C G rs113131509 GSAP Nonsynonymous SNV D269H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 319132 chrX 135098893 135098893 C T rs781953296 SLC9A6 Synonymous SNV N442N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 319133 chr7 83614788 83614788 C T rs77413754 SEMA3A Synonymous SNV P486P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.3 319134 chr7 87035805 87035805 G A rs561612231 ABCB4 Synonymous SNV L1048L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.34 319135 chr11 124761683 124761683 G A ROBO4 Synonymous SNV D376D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.79 319136 chr2 69399504 69399504 T C rs368125397 ANTXR1 Synonymous SNV N365N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.542 319137 chrX 15841063 15841063 C G rs61741680 ZRSR2 Nonsynonymous SNV P383A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 319138 chr2 10188566 10188566 C T rs144897109 KLF11 Nonsynonymous SNV P351S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.9 319139 chr2 103236507 103236507 G A SLC9A2 Nonsynonymous SNV R67Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 319140 chr2 74755976 74755976 G A rs200530328 AUP1 Synonymous SNV L142L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.268 319141 chr2 111431936 111431936 A G rs752170507 BUB1 Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.17 319142 chr12 48501209 48501209 G T rs193298317 PFKM Nonsynonymous SNV R18L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 319143 chr2 88472726 88472726 C A THNSL2 Synonymous SNV L19L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 319144 chrX 53223720 53223720 A G rs781963835 KDM5C Synonymous SNV C1146C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 319145 chrX 54784197 54784197 C T rs752595046 ITIH6 Synonymous SNV S770S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 319146 chrX 63488686 63488686 C T rs748651148 MTMR8 Nonsynonymous SNV V616M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 319147 chr12 49719940 49719940 C T rs575346130 TROAP Nonsynonymous SNV R239W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 319148 chrX 69672543 69672543 G T rs757449904 DLG3 Nonsynonymous SNV W24C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 319149 chr12 49953586 49953586 C T rs749780056 MCRS1 Nonsynonymous SNV R119Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 319150 chr2 97365685 97365685 T C rs200444312 FER1L5 Nonsynonymous SNV W1600R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.84 319151 chrX 70387060 70387060 C T rs374424855 NLGN3 Synonymous SNV H331H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 319152 chrX 74961610 74961610 C G rs776459901 TTC3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.389 319153 chr12 6559390 6559390 G A rs376790183 CD27 Nonsynonymous SNV R107H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 23.9 319154 chr8 126448549 126448549 T C rs201422663 TRIB1 Synonymous SNV L153L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.068 319155 chr2 133542503 133542503 T C rs200349470 NCKAP5 Synonymous SNV L627L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 319156 chr3 111996687 111996687 G A rs377123017 SLC9C1 Synonymous SNV P113P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.076 319157 chr10 103589666 103589666 G A KCNIP2 Nonsynonymous SNV S68L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 319158 chr10 103900252 103900252 C G PPRC1 Nonsynonymous SNV P663A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.84 319159 chr2 45801785 45801785 G C rs756306695 SRBD1 Nonsynonymous SNV L384V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.65 319160 chr2 48808496 48808496 C G rs759170272 STON1, STON1-GTF2A1L Nonsynonymous SNV Q242E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 319161 chr10 11361021 11361021 G A rs149654846 CELF2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 319162 chr8 144776367 144776367 G C rs372770709 ZNF707 Synonymous SNV S225S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.519 319163 chr12 16529093 16529093 A G rs776669758 MGST1 Nonsynonymous SNV I87V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.049 319164 chr12 18234254 18234254 C T rs146555626 RERGL Nonsynonymous SNV M162I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 319165 chr2 74071948 74071948 T C rs776031046 STAMBP Nonsynonymous SNV I71T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 319166 chr2 74074637 74074637 G A rs140651555 STAMBP Nonsynonymous SNV E32K 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 319167 chr12 57908816 57908816 C T rs369861995 MARS1 Nonsynonymous SNV R727W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 319168 chr2 74489325 74489325 C T rs764043053 SLC4A5 Synonymous SNV P250P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 319169 chr10 13322975 13322975 C A PHYH 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 319170 chr10 134015616 134015616 A G rs375484202 DPYSL4 Nonsynonymous SNV N426S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 319171 chr3 132235323 132235323 A C rs757752539 DNAJC13 Nonsynonymous SNV K1848T 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 319172 chr8 19675154 19675154 T C rs763789269 INTS10 Nonsynonymous SNV Y36H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 319173 chr2 97274669 97274669 C T rs373054990 KANSL3 Nonsynonymous SNV V278I 0.002 0 0 0 2 0 0 0 0 0 0 0 11.73 319174 chr2 179422671 179422671 C T TTN Nonsynonymous SNV R20072K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.95 319175 chr3 137822705 137822705 G A rs139394665 DZIP1L Nonsynonymous SNV R37C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 319176 chr10 15103764 15103764 G C OLAH Nonsynonymous SNV E69Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 319177 chr3 141289847 141289847 C T rs746485118 RASA2 Synonymous SNV Y319Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.68 319178 chr8 33361328 33361328 C A TTI2 Nonsynonymous SNV E320D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 319179 chr10 29756414 29756414 G A rs11817094 SVIL-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.377 319180 chr3 168833969 168833969 G C MECOM Nonsynonymous SNV S376C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.9 319181 chr10 38120882 38120882 A G rs141219322 ZNF248 Synonymous SNV N467N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.086 319182 chr10 43882868 43882868 C T rs201673393 HNRNPF Synonymous SNV A155A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 319183 chr3 172365821 172365821 C T rs147779888 NCEH1 Synonymous SNV A74A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 319184 chr3 182870211 182870211 G A rs145794465 LAMP3 Synonymous SNV N280N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.444 319185 chr3 184299085 184299085 C A rs143430250 EPHB3 Nonsynonymous SNV T926N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.42 319186 chr12 54962982 54962982 C T rs371717266 PDE1B Nonsynonymous SNV T61M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 319187 chr8 87076530 87076530 C G rs746505416 PSKH2 Nonsynonymous SNV R172S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 319188 chr10 6392814 6392814 G A rs1015299350 LINC02656 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 319189 chr9 100071744 100071744 C T rs751767974 CCDC180 Nonsynonymous SNV R84C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 319190 chr12 124419926 124419926 C T rs750482067 DNAH10 Synonymous SNV N4438N 0.002 0 0 0 2 0 0 0 0 0 0 0 16.11 319191 chr12 57910903 57910903 C T DDIT3 Nonsynonymous SNV E90K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 319192 chr10 72136245 72136245 C T LRRC20 Synonymous SNV K15K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 319193 chr3 30713834 30713834 G A rs35766612 TGFBR2 Nonsynonymous SNV V387M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.5 319194 chr3 31705664 31705664 C T rs143449583 OSBPL10 Synonymous SNV E655E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 319195 chr10 73466730 73466730 C T rs776564709 CDH23 Synonymous SNV R1010R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 319196 chr2 219895968 219895968 G A rs137890879 CFAP65 Nonsynonymous SNV T227M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 319197 chr10 73572601 73572603 ACA - rs763993100 CDH23 N94del 0 0 0.003 0 0 0 0 1 0 0 0 0 319198 chr10 73983767 73983767 G A rs147690332 ANAPC16 Nonsynonymous SNV R32Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 319199 chr3 38655306 38655306 C T SCN5A Nonsynonymous SNV D211N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 319200 chr12 73046880 73046880 T C TRHDE Synonymous SNV H931H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.328 319201 chr10 88681355 88681355 A C rs786204235 BMPR1A Nonsynonymous SNV E415D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.12 319202 chr9 117786252 117786252 C T TNC Synonymous SNV Q2165Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 319203 chr3 182554158 182554158 A G ATP11B Nonsynonymous SNV D151G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 319204 chr9 123920298 123920298 C T rs553029328 CNTRL Nonsynonymous SNV R1007C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 319205 chr3 45773581 45773581 T C rs780701409 SACM1L Synonymous SNV N285N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 319206 chr3 45530243 45530243 C A rs138121304 LARS2 Nonsynonymous SNV A393D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.4 319207 chr10 99359563 99359563 G A rs375436098 HOGA1 Nonsynonymous SNV G199S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 319208 chr3 47884718 47884718 G A rs147047248 DHX30 Synonymous SNV A304A 0.002 0 0 0 2 0 0 0 0 0 0 0 16.98 319209 chr13 41379337 41379337 G A rs186892167 SLC25A15 Nonsynonymous SNV R133Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 319210 chr3 48629677 48629677 C T rs150776274 COL7A1 Synonymous SNV G366G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.17 319211 chr3 48691190 48691190 G A rs146204269 CELSR3 Synonymous SNV N1770N 0.002 0 0 0 2 0 0 0 0 0 0 0 10.41 319212 chr2 23865303 23865303 G T rs936333301 KLHL29 Nonsynonymous SNV A175S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 319213 chr2 239169547 239169547 G A rs751987361 PER2 Synonymous SNV N488N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 319214 chr3 195501088 195501088 C G MUC4 Synonymous SNV P57P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.062 319215 chr3 50379334 50379334 C T rs755967305 ZMYND10 Nonsynonymous SNV R338Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 319216 chr3 51398008 51398008 C T rs371086620 DOCK3 Synonymous SNV L1651L 0.002 0 0 0 2 0 0 0 0 0 0 0 15.05 319217 chr9 131767626 131767626 C G rs148297202 NUP188 Synonymous SNV V1518V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.742 319218 chr3 51897130 51897130 C T rs76352019 IQCF2 Nonsynonymous SNV T80M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.217 319219 chr3 51992194 51992194 G A rs761449506 PCBP4 Synonymous SNV F322F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 319220 chr3 52823732 52823732 C T rs552736740 ITIH1 Nonsynonymous SNV T440M 0.002 0 0 0 2 0 0 0 0 0 0 0 33 319221 chr2 24261568 24261568 T G WDCP Nonsynonymous SNV D266A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 319222 chr2 24477282 24477282 T G ITSN2 Synonymous SNV A929A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 319223 chr3 52941733 52941733 C A SFMBT1 Nonsynonymous SNV K641N 0.002 0 0 0 2 0 0 0 0 0 0 0 33 319224 chr9 135865215 135865215 G C GFI1B Synonymous SNV T199T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.614 319225 chr9 135983700 135983700 G C RALGDS Nonsynonymous SNV P236R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.752 319226 chr13 103383114 103383114 T C CCDC168 Nonsynonymous SNV S6645G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.744 319227 chr11 1090350 1090350 T A rs370619598 MUC2 Nonsynonymous SNV S1216T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.007 319228 chr2 27804165 27804165 A T rs927491517 C2orf16 Nonsynonymous SNV S1576C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 319229 chr9 139347899 139347899 T A rs200814626 SEC16A Nonsynonymous SNV D2047V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.658 319230 chr3 73437208 73437208 C T PDZRN3 Nonsynonymous SNV E175K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 319231 chr3 88178933 88178933 T C rs572790536 ZNF654 Nonsynonymous SNV F171L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 319232 chr13 114322136 114322136 C T GRK1 Synonymous SNV L145L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.496 319233 chr3 44541012 44541012 G A rs752044758 ZNF852 Synonymous SNV S419S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.11 319234 chr11 116692169 116692169 G A rs147626624 APOA4 Nonsynonymous SNV T202M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.594 319235 chr3 99568866 99568866 C T rs376021359 FILIP1L Nonsynonymous SNV D312N 0.001 0 0 0 1 0 0 0 0 0 0 0 31 319236 chr9 14307466 14307466 G C NFIB Synonymous SNV A28A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 319237 chr14 20666068 20666068 A T OR11G2 Nonsynonymous SNV I192F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.118 319238 chr14 20666070 20666070 C G OR11G2 Nonsynonymous SNV I192M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 319239 chr14 20666077 20666077 T C OR11G2 Synonymous SNV L195L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 319240 chr14 20666088 20666088 - AGT OR11G2 I198_V199insS 0.001 0 0 0 1 0 0 0 0 0 0 0 319241 chr14 20666091 20666093 CAA - OR11G2 N200del 0.001 0 0 0 1 0 0 0 0 0 0 0 319242 chr14 20666097 20666097 C T OR11G2 Synonymous SNV I201I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.414 319243 chr14 20666100 20666100 C T OR11G2 Synonymous SNV S202S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.854 319244 chr14 20666107 20666107 T A OR11G2 Nonsynonymous SNV S205T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.011 319245 chr14 20666109 20666111 CTT - OR11G2 F206del 0.001 0 0 0 1 0 0 0 0 0 0 0 319246 chr2 43903077 43903077 C T rs369365220 C1GALT1C1L Nonsynonymous SNV E129K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.874 319247 chr9 21455535 21455535 C G rs551323738 MIR31HG 0 0 0.003 0 0 0 0 1 0 0 0 0 2.373 319248 chr3 48337638 48337638 G A rs200884294 NME6 Synonymous SNV F23F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.3 319249 chr9 22820966 22820966 A G rs73653817 LINC01239 0 0 0.003 0 0 0 0 1 0 0 0 0 1.457 319250 chr4 106588717 106588717 G A rs547424272 ARHGEF38 Nonsynonymous SNV V669M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 319251 chr9 3288175 3288175 C G rs146022525 RFX3 Nonsynonymous SNV M269I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 319252 chr9 33295288 33295288 A G rs150843879 NFX1 Nonsynonymous SNV N299S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 319253 chr9 340265 340265 C G rs200201944 DOCK8 Nonsynonymous SNV H473Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 319254 chr9 34241269 34241269 A G rs145327425 UBAP1 Synonymous SNV K146K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 319255 chr11 123777453 123777453 T C rs766345568 OR8D4 Synonymous SNV C105C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 319256 chr11 123777464 123777464 T C rs755999733 OR8D4 Nonsynonymous SNV I109T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 319257 chr3 52836750 52836750 G A rs201794632 ITIH3 Nonsynonymous SNV R546Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.62 319258 chr3 55107886 55107886 - GTAA CACNA2D3 Frameshift insertion E1062Vfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 319259 chr4 144545309 144545309 G T FREM3 Nonsynonymous SNV L1869M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 319260 chr3 78737872 78737872 G A rs747155572 ROBO1 Nonsynonymous SNV R330W 0 0.003 0 0 0 1 0 0 0 0 0 0 30 319261 chr14 52494064 52494064 T C rs148408306 NID2 0.002 0 0 0 2 0 0 0 0 0 0 0 24.9 319262 chr9 96031168 96031168 A G WNK2 Synonymous SNV A1360A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.146 319263 chr4 15982056 15982056 G A rs774262417 PROM1 Synonymous SNV D817D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 319264 chrM 1393 1393 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 319265 chr11 19914030 19914030 C T rs760160782 NAV2 Nonsynonymous SNV T210I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 319266 chr4 10445149 10445149 T C ZNF518B Nonsynonymous SNV K935R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 319267 chr14 63747826 63747826 C T rs35641601 RHOJ Synonymous SNV H125H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.37 319268 chr4 1825386 1825386 G T LETM1 Synonymous SNV T439T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.596 319269 chr14 64630225 64630225 C A rs148492034 SYNE2 Nonsynonymous SNV P5469T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.706 319270 chr14 64655309 64655309 A G SYNE2 Synonymous SNV T5918T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.588 319271 chr4 183836692 183836692 G A rs139764618 DCTD Synonymous SNV D21D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 319272 chr14 64727371 64727371 C T rs201239439 ESR2 Nonsynonymous SNV G250S 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.675 319273 chrX 135432018 135432018 C T ADGRG4 Synonymous SNV H2051H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.584 319274 chr11 2606443 2606443 G A rs120074183 KCNQ1 Nonsynonymous SNV G345E 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 28.9 319275 chrX 149638054 149638054 A G rs376737932 MAMLD1 Nonsynonymous SNV Q45R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 319276 chr11 3111136 3111136 C T rs367895102 OSBPL5 Nonsynonymous SNV R746Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.97 319277 chr14 73464551 73464551 - GGAAGATGATAACTGCAG ZFYVE1 F318_H319insPAVIIF 0.001 0 0 0 1 0 0 0 0 0 0 0 319278 chr4 123140717 123140717 C A rs937950585 KIAA1109 Nonsynonymous SNV P824T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 319279 chrX 15349684 15349684 C T rs766304305 PIGA Synonymous SNV T123T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 319280 chr4 141555315 141555315 C T TBC1D9 Nonsynonymous SNV G845S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 319281 chr11 4622358 4622358 C T TRIM68 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 319282 chr4 38775029 38775029 A G rs144520113 TLR10 Nonsynonymous SNV I728T 0.001 0 0 0 1 0 0 0 0 0 0 0 25 319283 chrX 38156603 38156603 A G rs794727019 RPGR Nonsynonymous SNV C388R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.235 319284 chrX 40489890 40489890 G A rs765901389 CXorf38 Stop gain Q194X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319285 chrX 48378851 48378851 G A rs200659583 PORCN Nonsynonymous SNV R376H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 319286 chrX 54785192 54785192 G A rs761011368 ITIH6 Nonsynonymous SNV R439C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 319287 chr4 49009285 49009285 T G CWH43 Synonymous SNV L349L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.912 319288 chrX 73962192 73962192 T C NEXMIF Nonsynonymous SNV K734E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 319289 chr4 56734625 56734625 A T rs768134662 EXOC1 Nonsynonymous SNV Y180F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.665 319290 chr10 102276661 102276661 C A SEC31B Nonsynonymous SNV A17S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 319291 chr4 6596350 6596350 C T rs368931196 MAN2B2 Synonymous SNV L265L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 319292 chr10 102782113 102782113 A T rs118098246 PDZD7 Nonsynonymous SNV V191E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 319293 chr4 185697645 185697645 G A rs756041355 ACSL1 Nonsynonymous SNV A216V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 319294 chr10 105957689 105957689 T C rs894642548 CFAP43 Synonymous SNV Q401Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.062 319295 chr3 142567203 142567203 G A rs41267845 PCOLCE2 Nonsynonymous SNV R102C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 319296 chr3 142753768 142753768 A G rs763535711 U2SURP Nonsynonymous SNV N222S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.22 319297 chr15 23891942 23891942 T C MAGEL2 Synonymous SNV A316A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.164 319298 chr4 2044127 2044127 - TG rs879393703 C4orf48 Frameshift insertion P17Lfs*8 0.002 0 0 0 2 0 0 0 1 0 0 0 319299 chr4 2044128 2044128 - T C4orf48 Frameshift insertion L18Afs*92 0.002 0 0 0 2 0 0 0 1 0 0 0 319300 chr4 2306700 2306700 T C rs749046922 ZFYVE28 Nonsynonymous SNV E426G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.425 319301 chr4 2514302 2514302 G A rs139513670 RNF4 Nonsynonymous SNV D118N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.86 319302 chr14 73659482 73659482 A C PSEN1 Nonsynonymous SNV I227L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 319303 chr10 123279673 123279673 A C rs3135755 FGFR2 Synonymous SNV P138P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.449 319304 chr4 3447076 3447076 C T rs368406368 HGFAC Synonymous SNV C367C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.976 319305 chr4 3475179 3475179 G A rs773830717 DOK7 Synonymous SNV K49K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.993 319306 chr4 3502033 3502033 G A rs373576776 DOK7 Synonymous SNV E388E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.012 319307 chr4 435657 435658 AT - rs781904937 ZNF721 C867Wfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 319308 chr11 56805122 56805122 C T rs11228882 OR5AK4P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.627 319309 chr4 5633725 5633725 A C rs145909403 EVC2 Nonsynonymous SNV L422R 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.9 319310 chr5 114469596 114469596 A G TRIM36 Nonsynonymous SNV C344R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 319311 chr3 194325024 194325024 C T rs139058985 TMEM44 Nonsynonymous SNV D390N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 319312 chr11 60535070 60535070 G A rs746243104 MS4A15 Nonsynonymous SNV R4H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 319313 chr3 196675002 196675002 G A rs546709027 PIGZ Nonsynonymous SNV R256W 0.001 0 0 0 1 0 0 0 0 0 0 0 2.149 319314 chr3 197427912 197427912 A G rs771168333 RUBCN Nonsynonymous SNV V218A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 319315 chr3 24006477 24006477 T G NR1D2 Nonsynonymous SNV L311V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 319316 chr10 445151 445151 C G rs138913022 DIP2C Synonymous SNV L386L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.77 319317 chr11 64022278 64022278 G T PLCB3 Nonsynonymous SNV R79L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 319318 chr14 105834810 105834810 C T rs781878450 PACS2 Synonymous SNV D225D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 319319 chr5 140474755 140474755 C T rs151242606 PCDHB2 Synonymous SNV D127D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.209 319320 chr11 64326618 64326618 G A rs753662894 SLC22A11 Synonymous SNV V135V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.767 319321 chr5 140475534 140475534 T C rs139646206 PCDHB2 Nonsynonymous SNV I387T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 319322 chr5 140769007 140769007 A C rs769871337 PCDHGB4 Nonsynonymous SNV D519A 0.001 0 0 0 1 0 0 0 0 0 0 0 31 319323 chr5 140788167 140788167 T C rs761951478 PCDHGB6 Nonsynonymous SNV F133S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 319324 chr10 5435603 5435603 G A rs367579573 TUBAL3 Synonymous SNV Y366Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.439 319325 chr5 148996292 148996292 C T ARHGEF37 Synonymous SNV N207N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 319326 chr5 149216547 149216547 G A rs531833775 PPARGC1B Synonymous SNV K804K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.96 319327 chr11 65617395 65617395 G A rs376457738 SNX32 Nonsynonymous SNV C49Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 319328 chr5 149776130 149776130 C T rs373129508 TCOF1 Nonsynonymous SNV A1279V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.6 319329 chr10 64966894 64966894 A G rs760661716 JMJD1C Nonsynonymous SNV L1293P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 319330 chr11 6637938 6637938 C G rs140349036 TPP1 Synonymous SNV L280L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.911 319331 chr10 70967682 70967682 T C SUPV3L1 Nonsynonymous SNV L308P 0 0 0.003 0 0 0 0 1 0 0 0 0 31 319332 chr10 71002953 71002953 C T rs149059487 HKDC1 Nonsynonymous SNV A236V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 319333 chr11 6739983 6739983 C G GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.94 319334 chr5 156378789 156378789 G A rs373429027 TIMD4 Nonsynonymous SNV T138M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 319335 chr3 47046006 47046006 T C rs373701768 NBEAL2 Nonsynonymous SNV S2040P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 319336 chr5 163000 163000 C T rs780993541 PLEKHG4B Nonsynonymous SNV A938V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.639 319337 chr11 71725517 71725517 T C rs754281573 NUMA1 Nonsynonymous SNV Q1011R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 319338 chr10 81838934 81838934 C T TMEM254 Synonymous SNV Y51Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 319339 chr5 17275563 17275563 G C rs199724192 BASP1 Nonsynonymous SNV E80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21 319340 chr10 90682146 90682146 A - rs778945331 STAMBPL1 K405Rfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 319341 chr5 176314302 176314302 G A rs550548336 HK3 Nonsynonymous SNV T546M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 319342 chr10 95093590 95093590 G A rs775750769 MYOF Synonymous SNV S1535S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 319343 chr5 178459684 178459684 A G ZNF879 Synonymous SNV S245S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.212 319344 chr5 139936796 139936796 G A rs759580752 SRA1 Nonsynonymous SNV P81L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 319345 chr3 64085040 64085040 C T rs202197921 PRICKLE2 Nonsynonymous SNV R741Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 319346 chr11 82644577 82644577 - GCCTTGTG DDIAS Frameshift insertion K733Sfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 319347 chr11 82644579 82644579 - G DDIAS Frameshift insertion L734Vfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 319348 chr11 82644580 82644580 T A DDIAS Nonsynonymous SNV L734I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 319349 chr3 78737811 78737811 C G ROBO1 Nonsynonymous SNV R350T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 319350 chr5 35641565 35641565 G A rs772509398 SPEF2 Nonsynonymous SNV R65H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 319351 chr11 102401348 102401348 A G MMP7 Synonymous SNV S28S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.096 319352 chr5 37299615 37299615 A C rs768744950 NUP155 Nonsynonymous SNV I1142S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 319353 chr11 105948454 105948454 - ACGGTTCTG rs767429201 AASDHPPT Stop gain C9_S309del 0 0 0.003 0 0 0 0 1 0 0 0 0 319354 chr11 108356977 108356977 C T rs145604569 POGLUT3 Synonymous SNV T197T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.139 319355 chr12 108589662 108589662 G A rs199708893 WSCD2 Nonsynonymous SNV R18H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 319356 chr12 109016905 109016905 C T rs372210132 SELPLG Synonymous SNV T409T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 319357 chr12 109017172 109017172 G A rs140747810 SELPLG Synonymous SNV S320S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.03 319358 chr11 111896436 111896436 G A rs587735788 DLAT Synonymous SNV S80S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.8 319359 chr12 109725293 109725293 C G rs534934360 FOXN4 Nonsynonymous SNV V169L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.787 319360 chr5 64013818 64013818 T C SHISAL2B Nonsynonymous SNV M151T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 319361 chr12 112187081 112187081 G A rs777137964 ACAD10 Nonsynonymous SNV G917S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 319362 chr16 5094607 5094607 C A C16orf89 Nonsynonymous SNV G396C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.24 319363 chr5 66460650 66460650 A C rs750187755 MAST4 Synonymous SNV R1620R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 319364 chr5 176795742 176795742 A T rs971096898 RGS14 Nonsynonymous SNV T292S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 319365 chr11 118366603 118366603 T G KMT2A Nonsynonymous SNV I1851S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 319366 chr11 118773725 118773725 T G BCL9L Nonsynonymous SNV N270H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.071 319367 chr12 120139686 120139686 G A rs201590211 CIT Synonymous SNV Y1752Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.202 319368 chr4 138442663 138442663 G A rs150208982 PCDH18 Synonymous SNV S975S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 10.28 319369 chr11 119252535 119252535 C T USP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 319370 chr4 141868870 141868870 G A rs144770118 RNF150 Synonymous SNV D276D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.476 319371 chr11 124006895 124006895 G T rs746277279 VWA5A Nonsynonymous SNV W473C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 319372 chr16 22153998 22153998 A G rs116463306 VWA3A Nonsynonymous SNV Y835C 0.002 0 0 0 2 0 0 0 0 0 0 0 25.4 319373 chr4 15539578 15539578 T C rs373296447 CC2D2A Synonymous SNV I607I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.505 319374 chr15 101169854 101169854 G A ASB7 Nonsynonymous SNV E142K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 319375 chr12 130647514 130647514 G T FZD10 Nonsynonymous SNV W9C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 319376 chr11 1272495 1272495 C G rs780933598 MUC5B Synonymous SNV T4795T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.624 319377 chr11 1281933 1281933 G A rs200719329 MUC5B Nonsynonymous SNV E5682K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.8 319378 chr5 80631641 80631641 G A ACOT12 Nonsynonymous SNV A403V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.436 319379 chr11 130066471 130066471 C T rs563459140 ST14 Synonymous SNV C410C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.492 319380 chr5 89986838 89986838 G A rs764647159 ADGRV1 Nonsynonymous SNV D2311N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 319381 chr11 1477666 1477666 C A BRSK2 Nonsynonymous SNV P586Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 319382 chr5 94764435 94764435 A G FAM81B Nonsynonymous SNV K262R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 319383 chr16 31142275 31142275 A T rs201330971 KAT8 Nonsynonymous SNV T456S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 319384 chr4 184589160 184589160 A G rs147280840 TRAPPC11 Synonymous SNV E150E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.706 319385 chr5 5319185 5319185 C A rs145851675 ADAMTS16 Nonsynonymous SNV H1203Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 26.5 319386 chr12 2926418 2926418 C T rs762374688 ITFG2 Synonymous SNV S42S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 319387 chr11 2161818 2161818 T C IGF2-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 319388 chr12 2973859 2973859 G C FOXM1 Synonymous SNV P345P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.056 319389 chr6 110037660 110037660 C - FIG4 Q60Nfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 319390 chr4 2087457 2087457 C T POLN Nonsynonymous SNV A694T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 319391 chr11 33596268 33596268 C T KIAA1549L Synonymous SNV V1417V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 319392 chr12 45566966 45566966 G - rs573834706 PLEKHA8P1 0 0 0.007 0 0 0 0 2 0 0 0 0 319393 chr11 33628246 33628246 G A rs758860156 KIAA1549L Nonsynonymous SNV A1647T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 319394 chr12 48383545 48383545 G A rs184529965 COL2A1 Nonsynonymous SNV P287L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 319395 chr6 13807193 13807193 C T rs774710482 MCUR1 Nonsynonymous SNV D167N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 319396 chr11 45948357 45948357 G T rs142702567 LARGE2 Synonymous SNV L420L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.86 319397 chr11 45948358 45948358 C A rs150922857 LARGE2 Nonsynonymous SNV P421T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 319398 chr6 148840728 148840728 G C rs147468160 SASH1 Nonsynonymous SNV R64P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 319399 chr5 79028164 79028164 A - CMYA5 A1194Lfs*45 0 0.003 0 0 0 1 0 0 0 0 0 0 319400 chr16 84695721 84695721 C T rs747185351 KLHL36 Synonymous SNV H548H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.936 319401 chr6 153077331 153077331 A G rs758971550 VIP Nonsynonymous SNV N133S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.262 319402 chr6 158464399 158464399 G A rs142082418 SYNJ2 Nonsynonymous SNV V18I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 319403 chr6 159084320 159084320 T A rs201251694 SYTL3 Nonsynonymous SNV L7Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25 319404 chr16 88808728 88808728 T C rs141202337 PIEZO1 Nonsynonymous SNV D88G 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 8.698 319405 chr12 56482632 56482632 T C rs778618876 ERBB3 Synonymous SNV F363F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 319406 chr12 62926284 62926284 C T rs770330819 MON2 Synonymous SNV F489F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 319407 chr12 73014924 73014924 A G rs747605629 TRHDE Nonsynonymous SNV K791E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 319408 chr6 24515499 24515499 G A rs138912422 ALDH5A1 Synonymous SNV V277V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.78 319409 chr6 25820141 25820141 G T SLC17A1 Nonsynonymous SNV N70K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 319410 chr6 13281723 13281723 T C rs187790189 LOC100130357 0 0.003 0 0 0 1 0 0 0 0 0 0 4.673 319411 chr4 87662944 87662944 G A rs759604738 PTPN13 Nonsynonymous SNV R821K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 319412 chr4 88036383 88036383 G A rs199822549 AFF1 Nonsynonymous SNV A431T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.402 319413 chr4 90844390 90844390 - AGC rs770969212 MMRN1 Q313_G314insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 319414 chr12 94761894 94761894 G A rs373382478 CEP83 Nonsynonymous SNV R303C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 319415 chr6 34392537 34392537 C T rs147863199 RPS10, RPS10-NUDT3 Synonymous SNV Q77Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.95 319416 chr12 9875391 9875391 G A CLECL1 Nonsynonymous SNV T112I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 319417 chr11 58170409 58170409 A C OR5B3 Synonymous SNV T158T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 319418 chr13 101184711 101184711 C G rs922694302 GGACT Synonymous SNV A45A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 319419 chr13 103383841 103383841 T C rs762428718 CCDC168 Synonymous SNV K6402K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.711 319420 chr11 59516642 59516642 C T rs144642870 OR10V2P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.158 319421 chr13 108863104 108863104 A G rs3093764 LIG4 Synonymous SNV L171L 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 319422 chr11 61729809 61729809 G C rs776481126 BEST1 Nonsynonymous SNV G308R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 319423 chr11 62622978 62622978 G A rs539799721 SNHG1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.122 319424 chr16 89783129 89783129 G A rs368388743 VPS9D1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.74 319425 chr13 32753059 32753059 T C FRY Synonymous SNV I920I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.204 319426 chr17 16327069 16327069 G A TRPV2 Synonymous SNV E304E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.128 319427 chr13 32914362 32914362 T C rs587782320 BRCA2 Nonsynonymous SNV I1957T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 319428 chr17 960317 960317 T C ABR Synonymous SNV S251S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.962 319429 chr17 17070878 17070878 T C rs756258329 MPRIP Synonymous SNV H2023H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.456 319430 chr13 50070165 50070165 G C rs987553181 PHF11 Nonsynonymous SNV E10Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 319431 chr6 64430556 64430556 A G rs770840726 EYS Nonsynonymous SNV I3124T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.76 319432 chr6 74528249 74528249 T C CD109 Synonymous SNV Y1273Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 319433 chr14 102786144 102786144 - GGCGGC ZNF839 G20_P21insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 319434 chr6 89871591 89871591 C T PM20D2 Stop gain Q380X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 319435 chr17 32908146 32908146 A T rs769358704 TMEM132E Synonymous SNV S17S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.185 319436 chr11 70709453 70709453 C T rs145973493 SHANK2-AS3 0 0 0.003 0 0 0 0 1 0 0 0 0 5.129 319437 chr14 105352391 105352391 G A rs376487131 CEP170B Synonymous SNV P583P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.254 319438 chr17 7227431 7227431 G A rs761463096 NEURL4 Synonymous SNV D686D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 319439 chr7 100239126 100239126 G A rs778169466 TFR2 Nonsynonymous SNV R3W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 319440 chr11 75379115 75379115 G C MAP6 Synonymous SNV G100G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.476 319441 chr6 41038938 41038938 G A OARD1 Synonymous SNV R39R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 319442 chr17 38643517 38643517 C T TNS4 Synonymous SNV L353L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.389 319443 chr5 160029702 160029702 A G rs754267103 ATP10B Nonsynonymous SNV M1082T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 319444 chr11 823848 823848 C T PNPLA2 Synonymous SNV L304L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.662 319445 chr6 43400598 43400598 G A rs202203665 ABCC10 Nonsynonymous SNV V251M 0.002 0 0 0 2 0 0 0 0 0 0 0 21.6 319446 chr11 83809986 83809986 T C rs775478565 DLG2 Synonymous SNV A87A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.622 319447 chr14 23816034 23816034 C T rs368307678 SLC22A17 Synonymous SNV A244A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.68 319448 chr14 23826790 23826790 T C rs142399331 EFS Nonsynonymous SNV Q351R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 319449 chr14 24760116 24760116 G A rs369654913 DHRS1 Synonymous SNV S297S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.828 319450 chr14 29261375 29261375 T C rs187150624 LINC01551 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 319451 chr7 100856130 100856130 C A rs200279103 PLOD3 Nonsynonymous SNV G291V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 319452 chr12 10560277 10560277 C T rs753774225 KLRC4 Nonsynonymous SNV R151Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 319453 chr12 10603706 10603706 G T rs758332487 KLRC1 Nonsynonymous SNV P17Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 319454 chr7 106822862 106822862 T A HBP1 Nonsynonymous SNV S82T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 319455 chr6 83900927 83900927 G A rs753019951 PGM3 Stop gain Q21X 0 0.005 0 0 0 2 0 0 0 0 0 0 23.4 319456 chr7 116340097 116340097 C T rs35776110 MET Nonsynonymous SNV A320V 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 31 319457 chr7 120607606 120607606 C A rs201298392 ING3 Nonsynonymous SNV H154N 0.002 0 0 0 2 0 0 0 0 0 0 0 24.8 319458 chr12 109665250 109665250 C T rs200165207 ACACB Synonymous SNV C1319C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 319459 chr7 120765892 120765892 A G rs371508980 CPED1 Synonymous SNV Q360Q 0.002 0 0 0 2 0 0 0 0 0 0 0 5.164 319460 chr7 122635157 122635157 A G rs764568643 TAS2R16 Nonsynonymous SNV F178L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 319461 chr14 54996816 54996816 C T rs763508165 CGRRF1 Synonymous SNV C98C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 319462 chr17 48741363 48741363 T C ABCC3 Nonsynonymous SNV V410A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 319463 chr6 91233402 91233402 G C rs756301309 MAP3K7 Nonsynonymous SNV S459C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 319464 chr14 62233635 62233635 A T rs149332356 SNAPC1 Nonsynonymous SNV E57V 0 0 0.003 0 0 0 0 1 0 0 0 0 25 319465 chr12 121132921 121132921 C G rs945283049 MLEC Synonymous SNV V122V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 319466 chr14 70038335 70038335 G C rs543652765 CCDC177 Nonsynonymous SNV R669G 0 0 0.003 0 0 0 0 1 0 0 0 0 28 319467 chr7 137570241 137570241 G T CREB3L2 Nonsynonymous SNV L288I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 319468 chr7 138552853 138552853 G C KIAA1549 Synonymous SNV P1599P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.711 319469 chr12 124337883 124337883 C T rs575534182 DNAH10 Nonsynonymous SNV S2023F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 319470 chr7 138968714 138968714 G C rs372389182 UBN2 Nonsynonymous SNV Q1021H 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 319471 chr12 129373275 129373275 T C rs770836241 GLT1D1 Nonsynonymous SNV F16S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.076 319472 chr14 78184694 78184694 T C SNW1 Synonymous SNV Q476Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 319473 chr7 100550673 100550673 A C rs73398722 MUC3A Nonsynonymous SNV R418S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.37 319474 chr7 14613864 14613864 G A DGKB Synonymous SNV I563I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 319475 chr12 14578220 14578220 C T rs61754405 ATF7IP Synonymous SNV L457L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 319476 chr12 15637012 15637012 A T PTPRO Synonymous SNV I60I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.575 319477 chr7 149517990 149517990 C T rs202058224 SSPO 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.179 319478 chr14 95921756 95921756 C T rs758900940 SYNE3 Synonymous SNV A365A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 319479 chr7 100651921 100651921 C T rs375095627 MUC12 Nonsynonymous SNV P5022L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 319480 chr7 100880758 100880758 G A rs931369449 CLDN15 Synonymous SNV H35H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 319481 chr12 31545240 31545240 G A rs750821475 DENND5B Nonsynonymous SNV R1143C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319482 chr15 24923067 24923067 G T NPAP1 Nonsynonymous SNV A685S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 319483 chr7 17379269 17379269 T C rs778856761 AHR Nonsynonymous SNV L607P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.421 319484 chr15 31521512 31521512 G T rs762519151 LOC283710 Nonsynonymous SNV P24T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.487 319485 chr7 2625862 2625862 C T rs201196475 IQCE Nonsynonymous SNV T217M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.057 319486 chr7 30490889 30490889 A G rs745366309 NOD1 Nonsynonymous SNV L715P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 319487 chr6 129609190 129609190 G A rs142671449 LAMA2 Synonymous SNV A912A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.28 319488 chr12 53227798 53227798 G A rs150909244 KRT79 Nonsynonymous SNV R83W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 319489 chr18 9887338 9887340 CCA - rs755267863 TXNDC2 P288del 0.001 0 0 0 1 0 0 0 0 0 0 0 319490 chr12 53566428 53566428 C T CSAD Nonsynonymous SNV C44Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 319491 chr6 131486297 131486297 A C rs746717383 AKAP7 Nonsynonymous SNV D123A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 319492 chr12 55420837 55420837 A C NEUROD4 Nonsynonymous SNV Q205P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 319493 chr7 44736580 44736580 G A rs61756582 OGDH Synonymous SNV A652A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.04 319494 chr7 150698667 150698667 C G rs138269110 NOS3 Synonymous SNV T488T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.21 319495 chr7 47408767 47408767 G A rs112067281 TNS3 Synonymous SNV S492S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.363 319496 chr12 60098647 60098647 T C rs764411635 SLC16A7 Nonsynonymous SNV V22A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 319497 chr12 71526569 71526569 A G rs868757282 TSPAN8 Synonymous SNV D160D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.324 319498 chr6 160664705 160664705 A G rs141205337 SLC22A2 Nonsynonymous SNV M393T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 319499 chr12 72094767 72094767 A - TMEM19 R335Gfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 319500 chr12 72338466 72338466 A G rs139968591 TPH2 Synonymous SNV P180P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.11 319501 chr17 78307989 78307989 A G rs920092744 RNF213 Nonsynonymous SNV I1410V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.155 319502 chr7 6647637 6647637 G A rs370863339 C7orf26 Nonsynonymous SNV A399T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 319503 chr7 73814762 73814762 C T CLIP2 Synonymous SNV P946P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.4 319504 chr7 75615324 75615324 T C POR Nonsynonymous SNV F585L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 319505 chr12 9304868 9304868 A G rs113547066 PZP Nonsynonymous SNV V1387A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.613 319506 chr18 77896501 77896501 A G ADNP2 Nonsynonymous SNV S1069G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 319507 chr15 89694986 89694986 G A rs141659881 ABHD2 Synonymous SNV S91S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 319508 chr15 89760391 89760391 T G rs143817941 RLBP1 Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.934 319509 chr13 110861757 110861757 G A rs144773264 COL4A1 Synonymous SNV P211P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.23 319510 chr15 90775517 90775517 C T rs376340900 CIB1 Synonymous SNV R83R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 319511 chr15 91293056 91293056 A G rs982183816 BLM Synonymous SNV S186S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.09 319512 chr19 1051524 1051524 G A rs202155778 ABCA7 Synonymous SNV T967T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 319513 chr8 119123072 119123072 C T rs150818931 EXT1 Nonsynonymous SNV E72K 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.44 319514 chr13 114202684 114202684 G A rs200488389 TMCO3 Nonsynonymous SNV R447H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.47 319515 chr7 4871776 4871776 G A rs533522927 RADIL Stop gain Q484X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 319516 chr13 114792877 114792877 C T RASA3 Synonymous SNV V165V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 319517 chr15 99251233 99251233 G A rs201351992 IGF1R Synonymous SNV G179G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.119 319518 chr13 23905202 23905202 A C rs146376949 SACS Synonymous SNV P4124P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.001 319519 chr16 11914093 11914093 C T rs559041648 BCAR4 0 0 0.003 0 0 0 0 1 0 0 0 0 4.678 319520 chr16 11980415 11980415 T C rs373799715 GSPT1 Nonsynonymous SNV N388S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 319521 chr7 66103868 66103868 C T rs866499042 KCTD7 Synonymous SNV I173I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.88 319522 chr16 16282820 16282820 C G rs756992618 ABCC6 Synonymous SNV V549V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.045 319523 chr16 1785043 1785043 - G MIR3177 0 0 0.003 0 0 0 0 1 0 0 0 0 319524 chr6 42823644 42823644 G A rs138903943 BICRAL Synonymous SNV T699T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.74 319525 chr13 52602623 52602623 A G rs769763630 ALG11 Nonsynonymous SNV K459R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 319526 chr6 46979855 46979855 C T rs767876211 ADGRF1 Nonsynonymous SNV R335Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.295 319527 chr16 23428323 23428323 G A rs766573880 COG7 Synonymous SNV C419C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 319528 chr18 56338715 56338715 C A rs887658675 LOC101927322 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 319529 chr16 2373687 2373687 C T rs74002800 ABCA3 Synonymous SNV V150V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.62 319530 chr19 5789278 5789278 C G rs764118813 DUS3L Synonymous SNV R280R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.007 319531 chr13 99099069 99099069 A G FARP1 Synonymous SNV E1018E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.478 319532 chr8 144885613 144885613 G A rs536818456 SCRIB Synonymous SNV G1181G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.097 319533 chr16 31075917 31075917 C - rs955188477 ZNF668 G8Afs*72 0 0 0.003 0 0 0 0 1 0 0 0 0 319534 chr18 71816054 71816054 C T rs138821958 TIMM21 Nonsynonymous SNV T4I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.521 319535 chr8 145639760 145639760 G T rs782166922 SLC39A4 Synonymous SNV L320L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.297 319536 chr7 99527190 99527190 G A GJC3 Synonymous SNV T18T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.184 319537 chr14 105070792 105070792 A G rs759457084 TMEM179 Nonsynonymous SNV L96P 0 0 0.003 0 0 0 0 1 0 0 0 0 30 319538 chr18 77193581 77193581 C G rs201990048 NFATC1 Nonsynonymous SNV P410R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.33 319539 chr14 105920631 105920631 C T rs111868940 MTA1 Synonymous SNV T178T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.75 319540 chr8 113812395 113812395 G A CSMD3 Synonymous SNV Y526Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.177 319541 chr8 21951987 21951987 G A FAM160B2 Nonsynonymous SNV E28K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 319542 chr16 5053484 5053484 G C SEC14L5 Nonsynonymous SNV M404I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.745 319543 chr8 28196591 28196591 C G PNOC Nonsynonymous SNV P54R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 319544 chr8 28574954 28574954 G A rs370924429 EXTL3 Nonsynonymous SNV V460I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.27 319545 chr14 23994274 23994274 T C ZFHX2 Nonsynonymous SNV E1626G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 319546 chr16 67691370 67691370 G A rs759817398 CARMIL2 Synonymous SNV R1419R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.818 319547 chr16 705398 705398 G A rs547766719 WDR90 Nonsynonymous SNV A550T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.196 319548 chr8 38162266 38162266 A C NSD3 Nonsynonymous SNV M817R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 319549 chr14 36004144 36004144 A G rs371855455 INSM2 Nonsynonymous SNV D229G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 319550 chr8 53555084 53555084 T G RB1CC1 Nonsynonymous SNV E1388D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 319551 chr8 53555085 53555085 T A rs758879895 RB1CC1 Nonsynonymous SNV E1388V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 319552 chr14 38724961 38724961 G T CLEC14A Nonsynonymous SNV D89E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 319553 chr8 59058842 59058842 C T rs140524173 FAM110B Nonsynonymous SNV A18V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 319554 chr16 765947 765947 C T rs535868431 METRN Synonymous SNV P156P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 319555 chr19 17397484 17397501 TGTGTGTGTGTGTGTGTT - rs767407753 ANKLE1 L591_C596del 0.002 0 0 0 2 0 0 0 0 0 0 0 319556 chr14 70039923 70039923 C T CCDC177 Synonymous SNV A139A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 319557 chr14 71444427 71444427 C T rs139776513 PCNX1 Nonsynonymous SNV A458V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 319558 chr14 73717736 73717736 G A rs147850542 PAPLN Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 319559 chr14 73743970 73743970 G C NUMB Synonymous SNV A365A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 319560 chr14 74083788 74083788 T C rs866169133 ACOT6 Synonymous SNV A184A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 319561 chr14 74522382 74522382 C T rs200224133 BBOF1 Nonsynonymous SNV P461L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.277 319562 chr17 10225011 10225011 G A rs377339754 MYH13 Synonymous SNV S983S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 319563 chr8 32621837 32621837 C T rs777461776 NRG1 Nonsynonymous SNV P457S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 319564 chr8 37672417 37672417 C G rs140683045 ADGRA2 Synonymous SNV L90L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.29 319565 chr8 37729115 37729115 G A rs201163531 RAB11FIP1 Nonsynonymous SNV P1069S 0 0.003 0 0 0 1 0 0 0 0 0 0 1.977 319566 chr17 12656300 12656300 C T rs761036201 MYOCD Synonymous SNV F565F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 319567 chr14 95584000 95584000 G A rs777894117 DICER1 Nonsynonymous SNV R490C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.7 319568 chr8 67578089 67578089 G A rs779104296 VCPIP1 Synonymous SNV L369L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.226 319569 chr8 67067916 67067916 A G TRIM55 Nonsynonymous SNV Q528R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 319570 chr9 125551765 125551765 T A OR5C1 Nonsynonymous SNV I185N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 319571 chr17 19451355 19451355 G A rs150632967 SLC47A1 Nonsynonymous SNV V122I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 319572 chr17 1961320 1961320 G C rs752714744 HIC1 Nonsynonymous SNV A465P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.42 319573 chr15 30058587 30058587 C G TJP1 Nonsynonymous SNV R157S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 319574 chr17 27086481 27086481 G A FAM222B Nonsynonymous SNV H166Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 319575 chr17 27448646 27448646 G T MYO18A Synonymous SNV G430G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.83 319576 chr7 15725801 15725803 TGG - MEOX2 H80del 0.001 0 0 0 1 0 0 0 0 0 0 0 319577 chr9 116188001 116188001 C T rs771894456 C9orf43 Nonsynonymous SNV R341C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 319578 chr15 45707861 45707861 C T rs35750630 SPATA5L1 Nonsynonymous SNV S574L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 319579 chr17 36666769 36666769 - GGCGTCGTCCAGCAGCCA ARHGAP23 Q1352_E1353insASSSSQ 0 0 0.003 0 0 0 0 1 0 0 0 0 319580 chr17 38346923 38346923 C T RAPGEFL1 Nonsynonymous SNV P264L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 319581 chr9 118997494 118997494 G A rs148786397 PAPPA Synonymous SNV T770T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 319582 chr9 123201777 123201777 C T CDK5RAP2 Nonsynonymous SNV E978K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.125 319583 chr15 56387659 56387659 A G rs754497736 RFX7 Nonsynonymous SNV I659T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 319584 chr9 140672354 140672354 C T rs147523309 EHMT1 Nonsynonymous SNV S649L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.13 319585 chr15 60758822 60758822 G A ICE2 Nonsynonymous SNV L30F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 319586 chr15 63930929 63930929 C T HERC1 Stop gain W3983X 0 0 0.003 0 0 0 0 1 0 0 0 0 59 319587 chr15 65459019 65459019 C T rs149270152 CLPX Nonsynonymous SNV E155K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 319588 chr9 35074436 35074436 C T rs761005679 FANCG Synonymous SNV R564R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.17 319589 chr15 74911571 74911571 C G CLK3 Nonsynonymous SNV P160A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 319590 chr15 75142891 75142891 A C rs200349507 SCAMP2 Nonsynonymous SNV F199C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 319591 chr7 53103445 53103445 C T rs201720958 POM121L12 Synonymous SNV D27D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 319592 chr9 37784733 37784733 G A EXOSC3 Synonymous SNV D103D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.173 319593 chr17 4520441 4520441 C T LINC01996 0 0 0.003 0 0 0 0 1 0 0 0 0 2.855 319594 chr17 45785827 45785827 C G rs560875634 TBKBP1 Nonsynonymous SNV L314V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 319595 chr15 78317696 78317696 C T rs145243820 TBC1D2B Nonsynonymous SNV V331I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.36 319596 chr9 4679865 4679865 C T rs769490808 CDC37L1 Nonsynonymous SNV P33L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 319597 chr9 136582487 136582487 G A SARDH Synonymous SNV L371L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.828 319598 chr9 74329927 74329927 G A rs762255373 CEMIP2 Synonymous SNV Y775Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.281 319599 chr9 74674202 74674202 C T rs201522474 C9orf57 Nonsynonymous SNV G16S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 319600 chr7 6561562 6561562 T C rs768992075 GRID2IP Nonsynonymous SNV K316E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 319601 chr9 79318769 79318769 T C PRUNE2 Nonsynonymous SNV Q2587R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 319602 chr15 85186706 85186706 G A rs376622127 WDR73 Nonsynonymous SNV R378C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 319603 chr9 88257797 88257797 A G rs370723366 AGTPBP1 Nonsynonymous SNV I468T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.9 319604 chr15 89386723 89386723 G A rs764260441 ACAN Nonsynonymous SNV A299T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 319605 chr9 139935271 139935271 G A rs777898726 NPDC1 Nonsynonymous SNV A184V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.05 319606 chr15 89828377 89828377 T C rs201037656 FANCI Synonymous SNV F583F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.749 319607 chr7 86568140 86568140 G A rs774408868 KIAA1324L Synonymous SNV D88D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 319608 chr15 90984816 90984816 C T rs147782101 IQGAP1 Nonsynonymous SNV P243L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 319609 chr17 58525054 58525054 C T rs761525267 APPBP2 Nonsynonymous SNV R478Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 319610 chr9 99580856 99580856 G A rs751525402 ZNF782 Synonymous SNV C459C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 319611 chr9 99797913 99797913 G A rs148512137 CTSV Synonymous SNV V228V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 319612 chr15 93588606 93588606 G T rs192773212 RGMA Synonymous SNV I309I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.826 319613 chr19 52222793 52222793 T G rs372785460 HAS1 Nonsynonymous SNV Y122S 0.001 0 0 0 1 0 0 0 0 0 0 0 28 319614 chr17 62290530 62290530 C G TEX2 Nonsynonymous SNV E350Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 319615 chr16 11001733 11001733 G A rs553503699 CIITA Nonsynonymous SNV R795Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 319616 chr19 52468159 52468159 A G rs762821767 ZNF350 Nonsynonymous SNV V516A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 319617 chrX 122336628 122336628 T G GRIA3 Nonsynonymous SNV S137A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.751 319618 chr16 1252303 1252303 C T rs60734921 CACNA1H Nonsynonymous SNV P618L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 319619 chr17 67099028 67099028 C A rs913450867 ABCA6 Nonsynonymous SNV G941V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 319620 chr17 68171457 68171457 G A rs147750704 KCNJ2 Nonsynonymous SNV V93I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.037 319621 chrX 13612990 13612990 G A rs141324039 EGFL6 Nonsynonymous SNV V75M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 26.4 319622 chr8 105161050 105161050 G T RIMS2 Nonsynonymous SNV R1078L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.22 319623 chr16 1785033 1785033 G A MIR3177 0 0 0.003 0 0 0 0 1 0 0 0 0 2.428 319624 chr17 7228727 7228727 T G rs746459498 NEURL4 Nonsynonymous SNV K478Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 319625 chr16 18806847 18806847 C T rs189570291 ARL6IP1 Nonsynonymous SNV R87Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 319626 chr9 72659559 72659559 A C rs760315733 MAMDC2 Nonsynonymous SNV T32P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 319627 chr16 2122960 2122960 T C rs139963953 TSC2 Synonymous SNV H577H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.026 319628 chr9 77632169 77632169 A T rs778471944 CARNMT1 Nonsynonymous SNV D63E 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 319629 chr17 74469922 74469922 G A rs756654862 RHBDF2 Nonsynonymous SNV P546L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 319630 chrX 53224238 53224238 A G KDM5C Nonsynonymous SNV C1038R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 319631 chrX 54956502 54956502 C T rs200755166 TRO Synonymous SNV T646T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.07 319632 chr16 2816104 2816104 G A rs139825537 SRRM2 Nonsynonymous SNV A1859T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 319633 chr16 2891426 2891426 C G PRSS30P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.868 319634 chr17 76128028 76128028 C A TMC8 Nonsynonymous SNV T72K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.401 319635 chrX 68059550 68059550 C T rs760426873 EFNB1 Synonymous SNV G150G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.55 319636 chr16 3026831 3026831 G A rs761632808 PKMYT1 Nonsynonymous SNV T62I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.33 319637 chr16 309517 309517 G A rs370185907 FAM234A Nonsynonymous SNV G102R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.472 319638 chrX 100079227 100079227 C G rs150166686 CSTF2 Nonsynonymous SNV A228G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 319639 chr17 77758570 77758570 G A rs121908256 CBX2 Nonsynonymous SNV R443H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 319640 chr8 144358320 144358320 C G rs749278881 GLI4 Synonymous SNV P159P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 319641 chr8 144808880 144808880 G A rs782143259 FAM83H Synonymous SNV P917P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.329 319642 chr16 53698869 53698869 T C rs137982921 RPGRIP1L Nonsynonymous SNV K386E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 319643 chrX 15593870 15593870 T G ACE2 Nonsynonymous SNV Y454S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 319644 chr17 9725119 9725119 C A rs754508723 GSG1L2 Synonymous SNV V90V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 319645 chr19 54483176 54483176 C T rs747921020 CACNG8 Synonymous SNV L141L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 319646 chr16 65397385 65397385 T C rs138966459 LINC00922 0 0 0.003 0 0 0 0 1 0 0 0 0 2.787 319647 chrX 38019391 38019391 G A SRPX Synonymous SNV D258D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.075 319648 chr16 67202755 67202755 C T rs562617923 HSF4 Synonymous SNV S368S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.479 319649 chr16 67697373 67697373 G A rs200151482 ENKD1 Nonsynonymous SNV T277M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 319650 chr18 29225387 29225387 G A rs114543734 B4GALT6 Synonymous SNV L95L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 319651 chr16 69385447 69385447 G A rs187375394 TMED6 Synonymous SNV Y70Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.431 319652 chrX 68381877 68381877 C T rs61735027 PJA1 Nonsynonymous SNV R347Q 0 0.003 0 0 0 1 0 0 0 0 0 0 6.391 319653 chrX 69263793 69263793 C T rs142019301 AWAT2 Nonsynonymous SNV D84N 0 0.003 0 0 0 1 0 0 0 0 0 0 8.618 319654 chr16 70690511 70690511 T C rs118062333 IL34 Nonsynonymous SNV Y57H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 319655 chr16 74501724 74501724 G C GLG1 Nonsynonymous SNV P809R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 319656 chr1 985850 985850 A G AGRN Nonsynonymous SNV S1674G 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 319657 chr8 35648013 35648013 C G UNC5D Nonsynonymous SNV L927V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 319658 chr8 37611560 37611560 T C rs140114699 ERLIN2 Nonsynonymous SNV F316S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.193 319659 chr1 1179761 1179761 C G rs530078248 C1QTNF12 Synonymous SNV P98P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.478 319660 chr10 104210268 104210268 - GCTGTCGCC rs755011561 C10orf95 S194_S195insGDS 0.001 0 0 0 1 0 0 0 0 0 0 0 319661 chr10 104632307 104632307 G T rs370458438 AS3MT Synonymous SNV L91L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 319662 chr18 56204318 56204318 C T ALPK2 Nonsynonymous SNV G1034D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.188 319663 chr18 57103325 57103325 G A rs761881641 CCBE1 Nonsynonymous SNV R346C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319664 chr10 45799500 45799500 C T OR13A1 Stop gain W124X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 319665 chr1 3421823 3421823 C T rs377315812 MEGF6 Nonsynonymous SNV E713K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.64 319666 chr10 118891988 118891988 C A VAX1 Nonsynonymous SNV A144S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 319667 chr18 74583687 74583687 T C rs199957787 ZNF236 Synonymous SNV N191N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.111 319668 chr10 61832975 61832975 A G rs146874315 ANK3 Nonsynonymous SNV M2555T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.87 319669 chr10 70506975 70506975 T C rs5030885 CCAR1 Synonymous SNV Y177Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.367 319670 chr10 127685987 127685987 A G rs140634850 FANK1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 319671 chr16 89611109 89611109 A G rs748873540 SPG7 Nonsynonymous SNV I460V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 319672 chr19 10395219 10395219 C T ICAM1 Nonsynonymous SNV L356F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 319673 chr16 89985914 89985914 C T rs777024553 MC1R Nonsynonymous SNV S83L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.4 319674 chr9 103059215 103059215 C T rs139768159 INVS Nonsynonymous SNV H609Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 319675 chr19 10748751 10748751 C G rs989273778 SLC44A2 Nonsynonymous SNV L606V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 319676 chr17 11872750 11872750 G A rs536128098 DNAH9 Nonsynonymous SNV R768Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319677 chr9 111617075 111617075 G A rs772668094 ACTL7B Nonsynonymous SNV S379F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 319678 chr9 111929318 111929318 C T FRRS1L Nonsynonymous SNV G85D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.559 319679 chr20 60988476 60988493 AGGCGGCTGTGGGTGGGG - rs754268087 RBBP8NL P547_P552del 0.001 0 0 0 1 0 0 0 0 0 0 0 319680 chr17 16347246 16347246 G A rs777748042 LRRC75A Nonsynonymous SNV P192L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 319681 chr17 1674431 1674431 C A rs148005190 SERPINF1 Nonsynonymous SNV A131D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 319682 chr19 13220418 13220418 G A rs201679777 TRMT1 Synonymous SNV P390P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 319683 chr19 14046847 14046847 G A rs373116090 PODNL1 Synonymous SNV D115D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.692 319684 chr10 29762812 29762812 C T rs149757899 SVIL Synonymous SNV T1402T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 319685 chr10 94833880 94833880 G A CYP26A1 Synonymous SNV Q63Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13 319686 chr1 22150142 22150142 C T HSPG2 Nonsynonymous SNV V4325M 0 0 0 1 0 0 0.003 0 0 0 0 0 28 319687 chr19 15917895 15917895 A G rs746303560 OR10H1 Nonsynonymous SNV M318T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.276 319688 chr17 27581264 27581264 T A rs772176248 CRYBA1 Nonsynonymous SNV I182N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 319689 chr1 27023563 27023563 C G ARID1A Synonymous SNV P223P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.843 319690 chr10 50534385 50534385 A G rs41302985 C10orf71 Synonymous SNV T1265T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 319691 chr1 27875099 27875099 C T rs144212274 AHDC1 Synonymous SNV P1176P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.235 319692 chr17 34072895 34072895 C T rs145313062 GAS2L2 Nonsynonymous SNV V541I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.007 319693 chr19 2097315 2097315 G A rs149382986 IZUMO4 Synonymous SNV G94G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.549 319694 chr21 45825049 45825049 G A rs144022462 TRPM2 Nonsynonymous SNV G855R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 319695 chr10 73826784 73826784 C T rs778189648 SPOCK2 Synonymous SNV T268T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.12 319696 chr21 46067156 46067156 T A KRTAP10-11 Nonsynonymous SNV S261T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.786 319697 chr11 116629840 116629840 C T rs776700062 BUD13 Nonsynonymous SNV R303Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 319698 chr9 136677288 136677288 C T VAV2 Nonsynonymous SNV G167E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 319699 chr9 137726870 137726870 C T rs61729481 COL5A1 Synonymous SNV F1730F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 16.14 319700 chr10 88703122 88703122 G C rs146872793 MMRN2 Synonymous SNV L473L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.645 319701 chr19 35251269 35251269 C G rs114966386 ZNF599 Nonsynonymous SNV C146S 0 0 0.007 0 0 0 0 2 0 0 0 0 0.085 319702 chr19 35524591 35524591 C T rs181115510 SCN1B Synonymous SNV Y132Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.64 319703 chr22 19511566 19511566 C T rs752051241 CLDN5 Synonymous SNV L156L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.28 319704 chr9 139265593 139265593 C T rs139395199 CARD9 Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 319705 chr10 94594489 94594489 T C EXOC6 Synonymous SNV C19C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 319706 chr19 36017618 36017618 C A rs149282523 SBSN Nonsynonymous SNV Q522H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 319707 chr1 54293824 54293824 G A rs749991839 NDC1 Synonymous SNV S101S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.42 319708 chr17 39723601 39723601 C T KRT9 Nonsynonymous SNV S599N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 319709 chr17 3976021 3976021 C T ZZEF1 Nonsynonymous SNV A1239T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 319710 chr19 36134452 36134452 G C ETV2 Nonsynonymous SNV G78A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 319711 chr19 36211647 36211647 C T rs138918689 KMT2B Synonymous SNV S466S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.156 319712 chr17 40912934 40912934 G T RAMP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 319713 chr19 36884211 36884211 C G rs201438784 ZFP82 Nonsynonymous SNV G345A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 319714 chr19 36980618 36980618 C G rs541400565 LOC728752 0 0 0.003 0 0 0 0 1 0 0 0 0 8.304 319715 chr19 37005040 37005040 T C rs80254552 ZNF260 Synonymous SNV K367K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.923 319716 chr19 37129819 37129819 C T rs55837819 ZNF461 Synonymous SNV K453K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 319717 chr19 3733883 3733883 A T rs139837206 TJP3 Nonsynonymous SNV S284C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 319718 chr17 42248249 42248249 C T rs752107616 ASB16 Nonsynonymous SNV A31V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 319719 chr19 37488346 37488346 C T rs61745621 ZNF568 Nonsynonymous SNV H521Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 319720 chr21 41450636 41450636 G A rs201376842 DSCAM Synonymous SNV F1563F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 319721 chr22 29917011 29917011 T C THOC5 Nonsynonymous SNV N418S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 319722 chr22 30200811 30200811 G T rs749918340 ASCC2 Nonsynonymous SNV T212K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 319723 chr17 4578244 4578244 G A PELP1 Nonsynonymous SNV R428W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 319724 chr21 43531003 43531003 C T UMODL1 Synonymous SNV S557S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.474 319725 chr19 39028536 39028536 G A rs61729397 RYR1 Synonymous SNV A3870A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.18 319726 chr19 39096330 39096330 A G rs185429249 MAP4K1 Nonsynonymous SNV M414T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 319727 chr19 39227847 39227847 G A rs200543207 CAPN12 Synonymous SNV R437R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.54 319728 chr22 32016671 32016671 C G rs76005862 PISD Nonsynonymous SNV M231I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.72 319729 chr9 32541740 32541740 T C TOPORS Nonsynonymous SNV N863S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 319730 chr19 40697996 40697996 G T rs377356617 MAP3K10 Nonsynonymous SNV V20F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 319731 chr17 4859921 4859921 G A rs121918404 ENO3 Nonsynonymous SNV G331E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.2 319732 chr19 40964391 40964391 C T rs769324337 BLVRB Synonymous SNV P47P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 319733 chr11 19735457 19735457 G A rs777324563 NAV2 Synonymous SNV E72E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 319734 chr11 1103317 1103317 G A rs372557359 MUC2 Synonymous SNV P2689P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.776 319735 chr17 56281780 56281780 C T rs745730230 EPX Nonsynonymous SNV T715I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.027 319736 chr9 77359052 77359052 G A rs752709214 TRPM6 Nonsynonymous SNV A1693V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 319737 chr11 116728957 116728957 G A rs373958184 SIK3 Nonsynonymous SNV A967V 0.001 0 0 0 1 0 0 0 0 0 0 0 21 319738 chr11 2972505 2972505 G A rs200179608 NAP1L4 Nonsynonymous SNV A369V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 319739 chr19 44738864 44738864 A T rs775755339 ZNF227 Nonsynonymous SNV H15L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.826 319740 chr19 4511574 4511574 A C PLIN4 Nonsynonymous SNV C800G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 319741 chr17 674597 674597 G A GLOD4 Stop gain Q115X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 319742 chr17 6902295 6902295 G A rs115276151 ALOX12 Nonsynonymous SNV R189H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.3 319743 chr17 7125311 7125311 C T rs144255994 ACADVL Synonymous SNV S199S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.87 319744 chr17 72248397 72248397 A G rs1028568085 TTYH2 Nonsynonymous SNV I60V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 319745 chr19 45992710 45992710 C T rs532500975 RTN2 Nonsynonymous SNV V39M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 319746 chr19 46627142 46627142 C T rs766126378 IGFL3 0 0 0.003 0 0 0 0 1 0 0 0 0 2.075 319747 chr11 46690962 46690962 T G ATG13 Synonymous SNV A336A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.64 319748 chr17 72959096 72959096 C A HID1 Synonymous SNV P156P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.96 319749 chr19 47770020 47770020 C T rs757457032 CCDC9 Synonymous SNV R291R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 319750 chr19 47778393 47778393 T G INAFM1 Nonsynonymous SNV S73A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.195 319751 chrX 102632422 102632422 G A BEX3 Star tloss M1? 0.002 0 0 0 2 0 0 0 1 0 0 0 23.2 319752 chr17 74729294 74729294 G A rs778423082 METTL23 Nonsynonymous SNV E40K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 319753 chr17 74944836 74944836 C T rs112517312 MGAT5B Synonymous SNV A774A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.41 319754 chr11 129306646 129306646 G C BARX2 Nonsynonymous SNV G63A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 319755 chrX 54784522 54784522 C A ITIH6 Nonsynonymous SNV R662M 0.003 0 0 0 3 0 0 0 1 0 0 0 22.8 319756 chr17 7701095 7701095 A C rs991410557 DNAH2 Synonymous SNV S2726S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 319757 chr17 7814227 7814227 C T rs768666364 CHD3 Synonymous SNV P1905P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.8 319758 chr17 78328955 78328955 G C RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.656 319759 chr17 78328984 78328984 G C RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.635 319760 chr19 51671044 51671044 G A rs749226672 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.45 319761 chr19 52090437 52090437 G T rs138396190 ZNF175 Nonsynonymous SNV G285W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 319762 chr19 52569729 52569729 C T rs748072386 ZNF841 Nonsynonymous SNV R353H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 319763 chr17 79918729 79918729 G T rs540070522 NOTUM Synonymous SNV G19G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.385 319764 chr17 79991649 79991649 G A rs753063142 RAC3 Nonsynonymous SNV A175T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.86 319765 chrX 9905194 9905194 A G rs376695556 SHROOM2 Nonsynonymous SNV N38S 0.003 0 0 0 3 0 0 0 1 0 0 0 18 319766 chr19 54485391 54485391 G A CACNG8 Nonsynonymous SNV G189D 0 0 0.007 0 0 0 0 2 0 0 0 0 23.9 319767 chr22 50941923 50941923 C A rs767504721 LMF2 Nonsynonymous SNV R649L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 319768 chr1 1249238 1249238 G A rs201564312 INTS11 Synonymous SNV H179H 0 0.003 0 0 0 1 0 0 0 0 0 0 5.832 319769 chr1 172356367 172356367 G A rs199616510 DNM3 Nonsynonymous SNV R714H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 319770 chr11 4411441 4411441 G A TRIM21 Stop gain R67X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 319771 chr19 55420745 55420745 G A rs139654571 NCR1 Nonsynonymous SNV R71H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 319772 chr18 24722723 24722724 CA - rs752084147 CHST9 V17Afs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 319773 chr1 2340108 2340108 T G PEX10 Nonsynonymous SNV Q128P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.457 319774 chr1 2428267 2428267 C T rs371031554 PLCH2 Nonsynonymous SNV A618V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 319775 chr19 55591124 55591124 T C rs756415571 EPS8L1 Synonymous SNV L62L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.278 319776 chr1 2522500 2522500 C T rs767687916 MMEL1 Nonsynonymous SNV A757T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 319777 chr1 3756281 3756281 T C rs140029326 CEP104 Nonsynonymous SNV E209G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 28.8 319778 chr1 3761487 3761487 C G rs146922115 CEP104 Nonsynonymous SNV E184Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 20.8 319779 chr1 181702604 181702604 G A rs148719824 CACNA1E Nonsynonymous SNV G975R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 319780 chr18 43671668 43671668 C T rs756361407 ATP5F1A Nonsynonymous SNV E47K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 319781 chr18 44143069 44143069 G A rs202178613 LOXHD1 Nonsynonymous SNV R853C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 319782 chr19 5694851 5694851 G A LONP1 Nonsynonymous SNV S496L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 319783 chr1 9067377 9067377 A G rs199751862 SLC2A7 Nonsynonymous SNV I395T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.11 319784 chr18 51025821 51025821 C T rs751059155 DCC Nonsynonymous SNV P1351L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 319785 chr19 5784664 5784664 T G PRR22 Nonsynonymous SNV H3P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 319786 chr1 14105103 14105103 G A rs756759484 PRDM2 Synonymous SNV E70E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.078 319787 chr1 15707761 15707761 T C FHAD1 Nonsynonymous SNV M1257T 0 0.003 0 0 0 1 0 0 0 0 0 0 25 319788 chrX 129168476 129168476 C A BCORL1 Nonsynonymous SNV P1451H 0.002 0 0 0 2 0 0 0 1 0 0 0 16.37 319789 chr11 60617753 60617753 C T rs752709159 CCDC86 Synonymous SNV A346A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 319790 chr11 5221631 5221631 C G OR51V1 Nonsynonymous SNV E100D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 319791 chr18 72346655 72346655 G A rs752581906 ZNF407 Nonsynonymous SNV R1227H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.781 319792 chr1 203769503 203769503 T C ZBED6 Synonymous SNV V951V 0 0 0 1 0 0 0.003 0 0 0 0 0 1.098 319793 chr1 17634797 17634797 T C rs776068449 PADI4 Nonsynonymous SNV L27P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 319794 chr19 7685502 7685502 C T rs145006695 XAB2 Synonymous SNV E675E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 319795 chr18 77894464 77894464 C T rs372487987 ADNP2 Nonsynonymous SNV L390F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 319796 chr11 55340115 55340115 - GATC rs779296154 OR4C16 Frameshift insertion N173Dfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 319797 chr1 20067282 20067282 T C rs200687060 TMCO4 Nonsynonymous SNV T344A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 319798 chr1 20246898 20246898 T G rs201523720 PLA2G2E Synonymous SNV R111R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.366 319799 chr1 20489789 20489789 C T rs377463880 PLA2G2C Synonymous SNV R139R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.147 319800 chr1 22852724 22852724 G A rs200480767 ZBTB40 Synonymous SNV P1073P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.398 319801 chr10 115340366 115340366 G A rs146758495 HABP2 Synonymous SNV A225A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 7.305 319802 chr19 14743791 14743791 T G rs138384322 ADGRE3 Nonsynonymous SNV I403L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.96 319803 chr10 115374003 115374003 C T rs141487184 NRAP Nonsynonymous SNV R1044Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.5 319804 chr10 115393928 115393928 C T rs142887772 NRAP Synonymous SNV S455S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 9.263 319805 chr10 115401182 115401182 C T rs145810864 NRAP Nonsynonymous SNV G387E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 26.7 319806 chr1 27023908 27023922 GGCTGCGGCGGCGGC - ARID1A A345_A349del 0 0.003 0 0 0 1 0 0 0 0 0 0 319807 chr10 115614750 115614750 A G rs148376909 NHLRC2 Nonsynonymous SNV Q40R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 20.4 319808 chr10 116060327 116060327 G C rs141597041 AFAP1L2 Synonymous SNV A555A 0.001 0.003 0 0 1 1 0 0 0 0 0 0 1.432 319809 chr11 66061840 66061840 G T rs750929928 TMEM151A Synonymous SNV S41S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.118 319810 chr10 116245123 116245123 C T rs760392188 ABLIM1 Nonsynonymous SNV R37H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.909 319811 chr11 66239854 66239854 T C rs773479361 PELI3 Synonymous SNV R16R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.539 319812 chr11 66243157 66243157 T G PELI3 Nonsynonymous SNV L203R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 319813 chr11 66627388 66627388 G T rs752315580 LRFN4 Nonsynonymous SNV A544S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.86 319814 chr1 230841759 230841759 G A rs769005941 AGT Synonymous SNV H348H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.224 319815 chr1 233122228 233122228 C T PCNX2 Synonymous SNV P1950P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.5 319816 chr10 123845303 123845303 G A rs41288006 TACC2 Synonymous SNV P1096P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.513 319817 chr11 5922627 5922627 C G OR52E5 Stop gain Y211X 0.001 0 0 0 1 0 0 0 0 0 0 0 13.31 319818 chr19 17918784 17918785 AG - B3GNT3 A57Pfs*45 0 0 0.007 0 0 0 0 2 0 0 0 0 319819 chr1 245849392 245849392 C A rs747566553 KIF26B Nonsynonymous SNV P1036Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 319820 chr11 73020761 73020761 C G rs762172008 ARHGEF17 Nonsynonymous SNV R360G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 319821 chr10 15098909 15098909 G A rs775026251 OLAH Nonsynonymous SNV V84M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.227 319822 chr11 77383137 77383137 T G rs148454072 RSF1 Nonsynonymous SNV K1234T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 319823 chr1 49119120 49119120 A G rs375321264 AGBL4 Nonsynonymous SNV I255T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 319824 chr1 53222156 53222156 T G ZYG11B Synonymous SNV L19L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.208 319825 chr1 53322866 53322866 T C rs187915674 ZYG11A Synonymous SNV N151N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.67 319826 chr1 53326417 53326417 C T rs375832765 ZYG11A Synonymous SNV A341A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.45 319827 chr10 18282141 18282141 G A SLC39A12 Nonsynonymous SNV G351D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 319828 chr1 145580601 145580601 C T rs201676296 PIAS3 Nonsynonymous SNV R301W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 319829 chr19 24346160 24346160 C A rs576852395 HAVCR1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.915 319830 chr19 2986840 2986840 T A TLE6 Stop gain L79X 0 0 0.003 0 0 0 0 1 0 0 0 0 34 319831 chr1 149916529 149916529 T C rs587669829 OTUD7B Nonsynonymous SNV K587E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 319832 chr10 24816989 24816989 C T rs376587403 KIAA1217 Nonsynonymous SNV P691L 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 319833 chr1 150974204 150974204 G T rs768858495 MINDY1 Nonsynonymous SNV L28I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 319834 chr1 55680740 55680740 C T USP24 Nonsynonymous SNV G16D 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 319835 chr2 287791 287791 C T ALKAL2 Synonymous SNV V15V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.05 319836 chr19 33793280 33793280 G T rs1007915253 CEBPA Nonsynonymous SNV P49Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.5 319837 chr19 33870263 33870263 G C rs775712311 CEBPG Nonsynonymous SNV G40R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 319838 chr2 1926226 1926226 C T MYT1L Nonsynonymous SNV A439T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 319839 chr11 64000233 64000233 G - DNAJC4 Q145Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 319840 chr1 62738905 62738905 G A rs562463605 KANK4 Nonsynonymous SNV P624L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 319841 chr1 153312946 153312946 G A rs201317703 PGLYRP4 Synonymous SNV T245T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.192 319842 chr10 32573752 32573752 C T EPC1 Nonsynonymous SNV D540N 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 319843 chr10 43600497 43600497 C T rs544252468 RET Synonymous SNV A241A 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 21.3 319844 chr1 65113603 65113603 C T rs374912313 CACHD1 Synonymous SNV L130L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 16.2 319845 chr11 64808905 64808905 G T SAC3D1 Synonymous SNV P47P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.988 319846 chr1 74941304 74941304 C G LRRC53 Nonsynonymous SNV K365N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 319847 chr19 3767357 3767357 G A rs777202419 MRPL54 Nonsynonymous SNV R128H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 319848 chr1 15953235 15953235 C T rs150610844 DDI2 Synonymous SNV D70D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 319849 chr1 162557369 162557369 A G rs143369184 UAP1 Synonymous SNV Q313Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.173 319850 chr19 4258406 4258406 C T rs139277149 YJU2 Synonymous SNV D191D 0 0 0.007 0 0 0 0 2 0 0 0 0 13.46 319851 chr19 42880282 42880282 C T rs150486662 MEGF8 Synonymous SNV A2564A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.13 319852 chr11 72406819 72406819 A T rs767717922 ARAP1 Nonsynonymous SNV Y816N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 319853 chr1 110051449 110051449 C T rs145793775 AMIGO1 Nonsynonymous SNV R29Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21 319854 chr12 120260706 120260706 G A rs145804827 CIT Synonymous SNV C343C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.43 319855 chr10 73572540 73572540 G A rs771915739 CDH23 Nonsynonymous SNV E73K 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 319856 chr11 111414696 111414696 T C rs779588947 LAYN Nonsynonymous SNV I45T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.37 319857 chr19 45561128 45561128 G A rs747539811 CLASRP Synonymous SNV S133S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.35 319858 chr12 1225066 1225066 A G ERC1 Nonsynonymous SNV D479G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 319859 chr12 124858971 124858971 A G NCOR2 Nonsynonymous SNV C736R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 319860 chr1 120057057 120057057 T C rs753971018 HSD3B1 Nonsynonymous SNV L304P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 319861 chr19 47575756 47575756 G A rs199960919 ZC3H4 Nonsynonymous SNV P552L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 319862 chr1 180919151 180919151 T C rs2297184 KIAA1614-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.286 319863 chr1 150971954 150971954 G A rs369386016 MINDY1 Nonsynonymous SNV A149V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 319864 chr11 88241794 88241794 A T rs201195373 GRM5 Nonsynonymous SNV I1170K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 319865 chr1 19166641 19166641 C T rs145202761 TAS1R2 Nonsynonymous SNV A658T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 319866 chr19 49813681 49813681 G A rs370627761 SLC6A16 Nonsynonymous SNV R168C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 319867 chr11 92086421 92086421 C T rs747788526 FAT3 Synonymous SNV Y381Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.789 319868 chr19 50154367 50154367 C T rs755195310 SCAF1 Nonsynonymous SNV P241S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 319869 chr19 504797 504797 G A rs138718378 MADCAM1 Synonymous SNV A240A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.197 319870 chr1 201044626 201044626 T G rs760246258 CACNA1S Nonsynonymous SNV N649H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.1 319871 chr19 50962451 50962451 C T MYBPC2 Synonymous SNV F893F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.61 319872 chr12 102158232 102158232 G C GNPTAB Nonsynonymous SNV H821Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 319873 chr19 5138078 5138078 G C rs772058539 KDM4B Nonsynonymous SNV K849N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 319874 chr19 51385837 51385837 C G rs1003651157 KLKP1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.831 319875 chr1 156552952 156552952 C A rs373744348 TTC24 Synonymous SNV A343A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.15 319876 chr19 519135 519135 G C rs370054667 TPGS1 Synonymous SNV V195V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.504 319877 chr19 51961621 51961621 C G rs62639327 SIGLEC8 Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.411 319878 chr2 110882851 110882851 A C rs952816944 NPHP1 Nonsynonymous SNV L604R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.838 319879 chr1 157771844 157771844 C G rs12077293 FCRL1 Synonymous SNV L249L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.566 319880 chr1 157772404 157772404 C T rs12078586 FCRL1 Nonsynonymous SNV V124M 0 0.003 0 0 0 1 0 0 0 0 0 0 23 319881 chr1 205273456 205273456 G A rs200343978 NUAK2 Nonsynonymous SNV R337W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 319882 chr11 102707191 102707191 C G WTAPP1 0 0.003 0 0 0 1 0 0 0 0 0 0 2.719 319883 chr1 207087296 207087296 C G FCMR Nonsynonymous SNV V61L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 319884 chr1 207643243 207643243 C T rs529311780 CR2 Nonsynonymous SNV R341C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 319885 chr11 10631397 10631397 C T MRVI1 Synonymous SNV G168G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 319886 chr12 113319618 113319618 C T rs757630552 RPH3A Synonymous SNV Y364Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.99 319887 chr1 20976589 20976589 C T rs541775 PINK1-AS 0 0 0.014 0 0 0 0 4 0 0 2 0 2.945 319888 chr2 122154813 122154813 A G CLASP1 Nonsynonymous SNV M981T 0 0 0 1 0 0 0.003 0 0 0 0 0 18.94 319889 chr12 113601080 113601080 C T rs748941286 DDX54 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 319890 chr19 54104538 54104538 A T LOC284379 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319891 chr19 54104539 54104539 C A LOC284379 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 319892 chr12 51323752 51323752 A C rs913058946 METTL7A Nonsynonymous SNV Y185S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.66 319893 chr12 120172079 120172079 T G rs774062751 CIT Nonsynonymous SNV E1038D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 319894 chr1 220291292 220291292 A G rs72631834 MIR215 0 0 0.003 0 0 0 0 1 0 0 0 0 9.067 319895 chr1 220870014 220870014 G A rs996971243 C1orf115 Nonsynonymous SNV A124T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 319896 chr1 22169925 22169925 C T rs771328947 HSPG2 Nonsynonymous SNV G2876S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 319897 chr12 124421812 124421812 G A rs34842474 CCDC92 Synonymous SNV L246L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.245 319898 chr11 118209888 118209888 G A rs367800432 CD3D Nonsynonymous SNV R125W 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 27.1 319899 chr1 225394718 225394718 A - rs898382782 DNAH14 T2080Lfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 319900 chr1 228346110 228346110 G A rs761638814 GJC2 Synonymous SNV L217L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.913 319901 chr11 123676265 123676265 G T OR6M1 Nonsynonymous SNV L265M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.394 319902 chr1 228462520 228462520 C T rs138680175 OBSCN Synonymous SNV S1977S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 319903 chr1 228563423 228563423 T C rs1018276160 OBSCN Nonsynonymous SNV C7562R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.255 319904 chr12 6184562 6184562 G A rs750697933 VWF Synonymous SNV Y271Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.536 319905 chr19 58945708 58945708 A T ZNF132 Nonsynonymous SNV V368D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 319906 chr1 236148787 236148787 G T rs140746746 NID1 Nonsynonymous SNV L983M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 319907 chr1 236195807 236195807 G A rs763188712 NID1 Synonymous SNV P477P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 319908 chr19 651625 651625 G T RNF126 Synonymous SNV V143V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.846 319909 chr11 47336808 47336808 G A rs769408216 MADD Nonsynonymous SNV R1333Q 0.002 0 0 0 2 0 0 0 0 0 0 0 35 319910 chr19 6971204 6971204 C T rs183159342 ADGRE4P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.859 319911 chr12 81503433 81503433 C G rs770014944 ACSS3 Nonsynonymous SNV P135A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 319912 chr12 82752155 82752155 T C rs775642031 CCDC59 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 319913 chr12 9265083 9265083 A C A2M Nonsynonymous SNV V107G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 319914 chr1 207110759 207110759 G A rs149277979 PIGR Synonymous SNV P242P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.565 319915 chr1 208217992 208217992 G A rs201569933 PLXNA2 Synonymous SNV G1245G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.51 319916 chr12 94613883 94613883 A G rs114758530 PLXNC1 Nonsynonymous SNV K549R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 319917 chr12 96300224 96300224 C T rs368457474 CCDC38 Nonsynonymous SNV D104N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 319918 chr12 95531388 95531388 T C FGD6 Synonymous SNV T968T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.652 319919 chr13 101184675 101184675 G A rs753609413 GGACT Synonymous SNV P57P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.717 319920 chr12 49435186 49435186 T C KMT2D Nonsynonymous SNV T2123A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.964 319921 chr12 994317 994328 TTCAGTAACAGT - rs753602469 WNK1 V1204_S1207del 0.001 0 0 0 1 0 0 0 0 0 0 0 319922 chr12 49943396 49943396 G A KCNH3 Synonymous SNV A487A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.88 319923 chr2 209357989 209357989 G A PTH2R Nonsynonymous SNV V217I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 319924 chr1 249210888 249210888 C T rs753690599 PGBD2 Synonymous SNV S35S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 319925 chr19 9213757 9213757 G T OR7G2 Nonsynonymous SNV L76I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 319926 chr1 25572985 25572985 C T rs114469235 RSRP1 Nonsynonymous SNV R157K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 25.9 319927 chr1 10527277 10527277 G C rs754147021 DFFA Nonsynonymous SNV S137R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 319928 chr13 114304773 114304773 G C rs372158751 ATP4B Nonsynonymous SNV P221R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.778 319929 chr11 428582 428582 C T rs199542627 ANO9 Nonsynonymous SNV A216T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.93 319930 chr12 53680609 53680609 G T ESPL1 Synonymous SNV T1363T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.667 319931 chr12 53216895 53216895 C T rs905608869 KRT79 Synonymous SNV R424R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 7.193 319932 chr1 32628006 32628006 C T rs139751408 KPNA6 Synonymous SNV S264S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 319933 chr11 55607183 55607183 G C rs200328545 OR5D16 Nonsynonymous SNV W319S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.03 319934 chr12 53495878 53495878 G A rs6413498 IGFBP6 Nonsynonymous SNV R217Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 28.1 319935 chr1 33954215 33954215 A G rs748857005 ZSCAN20 Nonsynonymous SNV N190D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.747 319936 chr13 32776571 32776571 G C rs200315543 FRY Nonsynonymous SNV G1309R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 319937 chr13 28830508 28830508 A T rs372499998 PAN3 Nonsynonymous SNV R360S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 319938 chr1 114948161 114948161 T C rs776801067 TRIM33 Nonsynonymous SNV N880S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.241 319939 chr12 5687648 5687648 G A ANO2 Nonsynonymous SNV S757F 0.001 0 0 0 1 0 0 0 0 0 0 0 32 319940 chr1 40097226 40097226 C A HEYL Nonsynonymous SNV R58L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319941 chr13 37573400 37573400 G A rs767528777 ALG5 Nonsynonymous SNV A13V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.027 319942 chr13 37573401 37573401 C G ALG5 Nonsynonymous SNV A13P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 319943 chr1 1177932 1177932 G A rs372939329 C1QTNF12 Nonsynonymous SNV T302M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 319944 chr1 145561172 145561174 AGA - rs782200065 ANKRD35 K198del 0 0 0.003 0 0 0 0 1 0 0 0 0 319945 chr13 67801384 67801384 C T PCDH9 Nonsynonymous SNV G397S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 319946 chr1 46073966 46073966 T G NASP Nonsynonymous SNV N397K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 319947 chr1 145587451 145587451 G A rs782005984 NUDT17 Nonsynonymous SNV A210V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 319948 chr13 73346012 73346012 A G rs370191796 DIS3 Nonsynonymous SNV V386A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 319949 chr1 248153845 248153845 C T rs766468035 OR2L1P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.543 319950 chr1 48708263 48708263 G A rs373459207 SLC5A9 Synonymous SNV S604S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.155 319951 chr1 52849108 52849108 C T ORC1 Nonsynonymous SNV R666Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 319952 chr1 152058717 152058717 C T rs542560544 TCHHL1 Nonsynonymous SNV V481M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.174 319953 chr1 152082999 152082999 C T rs554313421 TCHH Synonymous SNV Q898Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 319954 chr13 99037076 99037076 G A rs78636977 FARP1 Nonsynonymous SNV V197M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 319955 chr1 152800053 152800053 T G rs200150558 LCE1A Synonymous SNV P35P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.434 319956 chr2 242182070 242182070 G A rs750091195 HDLBP Synonymous SNV V625V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.049 319957 chr1 153748454 153748454 G A rs762083552 SLC27A3 Nonsynonymous SNV A161T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 319958 chr1 155220500 155220508 CACGGAGCG - FAM189B R261_V263del 0 0 0.003 0 0 0 0 1 0 0 0 0 319959 chr2 15763640 15763640 A G rs149350581 DDX1 Nonsynonymous SNV I510V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 319960 chr1 156263162 156263162 G A rs765364245 GLMP Nonsynonymous SNV T249M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 319961 chr2 17889923 17889923 T C rs755602821 SMC6 Nonsynonymous SNV T610A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 319962 chr1 6269046 6269046 G A RNF207 Nonsynonymous SNV A144T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 319963 chr12 95603772 95603772 T C rs770895543 FGD6 Nonsynonymous SNV T430A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 319964 chr3 12976987 12976987 C T rs141003089 IQSEC1 Nonsynonymous SNV R510H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 319965 chr1 6529634 6529634 T G PLEKHG5 Nonsynonymous SNV K635Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 319966 chr1 158151469 158151469 A G rs763067209 CD1D Nonsynonymous SNV T96A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.609 319967 chr1 158261120 158261120 G A rs748928571 CD1C Synonymous SNV L86L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.897 319968 chr1 158389874 158389874 C T rs780867266 OR10K2 Synonymous SNV R261R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.008 319969 chr2 26399322 26399322 G A GAREM2 Synonymous SNV G74G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.496 319970 chr1 71532815 71532815 G A rs59019236 ZRANB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 319971 chr2 28635129 28635129 C T rs149953249 FOSL2 Synonymous SNV I265I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 319972 chr2 28788210 28788210 C A PLB1 Nonsynonymous SNV L435M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 319973 chr1 162735830 162735830 C A DDR2 Nonsynonymous SNV S380Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.47 319974 chr1 91850773 91850773 A G rs753477544 HFM1 Nonsynonymous SNV L258S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 319975 chr2 37456090 37456090 A G rs756637356 CEBPZ Synonymous SNV G82G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 319976 chr2 46605842 46605842 A C EPAS1 Nonsynonymous SNV K497T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 319977 chr14 47120939 47120939 T C rs201456427 RPL10L Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 319978 chr1 17699571 17699571 A G PADI6 Nonsynonymous SNV Q46R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.882 319979 chr2 63283136 63283136 A G rs757200322 OTX1 Synonymous SNV S250S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.437 319980 chr2 71058842 71058842 G A rs556671276 CD207 Stop gain Q276X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 319981 chr2 72360254 72360254 G A CYP26B1 Synonymous SNV L273L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.348 319982 chr20 25484646 25484646 G A rs760489764 NINL Nonsynonymous SNV A268V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.448 319983 chr20 31022435 31022435 C T rs532924267 ASXL1 Synonymous SNV A579A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 319984 chr20 31024694 31024694 G A rs201053008 ASXL1 Synonymous SNV L1332L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 319985 chr1 197326105 197326105 C G CRB1 Nonsynonymous SNV A266G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 319986 chr20 31651441 31651441 T G BPIFB3 Nonsynonymous SNV S204R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 319987 chr2 97482185 97482185 G A rs776985814 CNNM3 Synonymous SNV T57T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.131 319988 chr14 100847658 100847658 C T rs150193500 WDR25 Nonsynonymous SNV R133C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 319989 chr2 99438484 99438484 C G rs775371612 KIAA1211L Nonsynonymous SNV R751P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 319990 chr20 34191753 34191753 C T rs201443819 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 319991 chr14 77492105 77492105 C T rs141630319 IRF2BPL Synonymous SNV G677G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.632 319992 chr2 113088616 113088616 G A rs757148151 ZC3H6 Synonymous SNV E707E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 7.056 319993 chr20 41514552 41514552 G C rs200648521 PTPRT Nonsynonymous SNV H37D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.86 319994 chr14 20482572 20482572 G A rs181398214 OR4K14 Nonsynonymous SNV R261W 0.001 0 0 0 1 0 0 0 0 0 0 0 5.792 319995 chr14 105642890 105642890 G A rs587661158 NUDT14 Nonsynonymous SNV R137C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 319996 chr1 20981989 20981989 C T DDOST Synonymous SNV K182K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.82 319997 chr14 20863714 20863714 C T rs139320181 TEP1 Nonsynonymous SNV R500Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 319998 chr1 214492312 214492312 G A SMYD2 Nonsynonymous SNV V174I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 319999 chr1 214818419 214818423 AAGAA - CENPF K1836Rfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 320000 chr2 128354090 128354090 G A rs770549677 MYO7B Synonymous SNV A766A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.568 320001 chr2 128476961 128476961 G T rs202005660 WDR33 Nonsynonymous SNV P880T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 320002 chr2 131103253 131103253 C T rs201275845 IMP4 Synonymous SNV H55H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.167 320003 chr20 49507993 49507993 C A rs774543782 ADNP Nonsynonymous SNV E1086D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.704 320004 chr1 216496836 216496836 G A rs200940197 USH2A Synonymous SNV D510D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.546 320005 chr2 133887575 133887575 G A rs142446996 NCKAP5 Nonsynonymous SNV R106C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 320006 chr1 220311378 220311378 T G IARS2 Nonsynonymous SNV I723S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 320007 chr1 220986749 220986749 C T rs148999673 MARC1 Synonymous SNV L335L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 320008 chr2 136511775 136511775 A C rs768181686 UBXN4 Synonymous SNV G87G 0 0.003 0 0 0 1 0 0 0 0 0 0 5.896 320009 chr20 55909089 55909089 G A rs141106732 SPO11 Nonsynonymous SNV V112I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 320010 chr1 223396838 223396838 G T rs76683056 SUSD4 Synonymous SNV G399G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.187 320011 chr1 224491525 224491525 G A rs752448705 NVL Nonsynonymous SNV P71L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 320012 chr1 225341473 225341473 A G rs190061594 DNAH14 Nonsynonymous SNV R1740G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 320013 chr14 24568324 24568324 G A rs371707131 PCK2 Nonsynonymous SNV R244Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 320014 chr20 60904031 60904031 C T rs144368979 LAMA5 Nonsynonymous SNV G1439D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 320015 chr20 60928200 60928200 C T rs548845980 LAMA5 Synonymous SNV Q186Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.75 320016 chr2 160287504 160287504 A C rs35695911 BAZ2B Synonymous SNV G625G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.144 320017 chr2 160628463 160628463 G T rs34068933 CD302, LY75-CD302 Nonsynonymous SNV R142S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.99 320018 chr20 62203581 62203581 T C HELZ2 Nonsynonymous SNV E53G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 320019 chr1 230410291 230410291 G A rs527685112 GALNT2 Nonsynonymous SNV R476Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 320020 chr15 41387980 41387980 G A rs758419929 INO80 Nonsynonymous SNV S97F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.75 320021 chr14 45414662 45414662 G C rs150379775 KLHL28 Nonsynonymous SNV T171S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.458 320022 chr15 41166211 41166211 C A RHOV Nonsynonymous SNV G43C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 320023 chr15 41483774 41483774 C T rs554765300 EXD1 Nonsynonymous SNV V186I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 320024 chr14 58943904 58943904 A C KIAA0586 Synonymous SNV A823A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 320025 chr2 172945059 172945059 G C METAP1D Synonymous SNV S193S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.102 320026 chr21 15663912 15663912 A G rs74821262 ABCC13 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 320027 chr21 15671835 15671835 G A rs2403768 ABCC13 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 320028 chr15 42185258 42185258 G A rs374627230 SPTBN5 Nonsynonymous SNV A73V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.11 320029 chr21 27484425 27484425 G T rs760410401 APP Synonymous SNV P32P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.255 320030 chr21 31587572 31587572 A C CLDN8 Stop gain Y224X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 320031 chr3 142139919 142139919 T C rs143458115 XRN1 Nonsynonymous SNV N371S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.1 320032 chr21 33642792 33642792 G A rs61737940 MIS18A Synonymous SNV Y150Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.229 320033 chr21 34638028 34638028 C A IL10RB-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 7.413 320034 chr14 59950802 59950802 G A L3HYPDH Nonsynonymous SNV A78V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 320035 chr15 51350277 51350277 T A rs144316469 TNFAIP8L3 Nonsynonymous SNV H139L 0.002 0 0 0 2 0 0 0 0 0 0 0 16.04 320036 chr21 36410870 36410871 CT - rs796724134 RUNX1-IT1 0 0 0.007 0 0 0 0 2 0 0 1 0 320037 chr12 132474589 132474589 G C EP400 Synonymous SNV L830L 0.002 0 0 0 2 0 0 0 0 0 0 0 5.362 320038 chr15 56736014 56736014 C T rs767931688 MNS1 Nonsynonymous SNV R242Q 0.002 0 0 0 2 0 0 0 0 0 0 0 10.39 320039 chr14 65194665 65194665 C T rs781308900 PLEKHG3 Nonsynonymous SNV R106C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 320040 chr15 57484413 57484413 G A TCF12 Nonsynonymous SNV G150R 0.002 0 0 0 2 0 0 0 0 0 0 0 29.8 320041 chr12 103988243 103988243 C G STAB2 Nonsynonymous SNV L96V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.064 320042 chr1 2487827 2487827 C T rs11573966 TNFRSF14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.666 320043 chr1 25890188 25890188 C T rs114583297 LDLRAP1 Nonsynonymous SNV T218I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.636 320044 chr14 77274315 77274315 T C rs779927099 ANGEL1 Nonsynonymous SNV N276D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 320045 chr1 26488155 26488155 G T rs190167352 FAM110D Nonsynonymous SNV A125S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 320046 chr1 26596102 26596102 A G CEP85 Nonsynonymous SNV H498R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 320047 chr21 45750411 45750411 C T CFAP410 Nonsynonymous SNV V312M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.617 320048 chr2 207173370 207173370 C T rs368344533 ZDBF2 Nonsynonymous SNV S1373F 0 0.003 0 0 0 1 0 0 0 0 0 0 17.86 320049 chr14 90726534 90726534 G A rs377233862 PSMC1 Nonsynonymous SNV A45T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 320050 chr1 27100181 27100181 - GCAGCA rs570962335 ARID1A Q1334_R1335insQQ 0 0 0.003 0 0 0 0 1 0 0 0 0 320051 chr14 80327991 80327991 G A rs372128835 NRXN3 Nonsynonymous SNV R533H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 320052 chr21 46875508 46875508 C T rs763995210 COL18A1 Nonsynonymous SNV R22W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 320053 chr14 86088255 86088255 T G rs142516343 FLRT2 Nonsynonymous SNV L133V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.484 320054 chr15 73615308 73615308 C T rs1057521459 HCN4 Synonymous SNV P1042P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.5 320055 chr15 74703152 74703152 G A rs746844439 SEMA7A Nonsynonymous SNV A591V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 320056 chr15 75131044 75131044 C T rs755151716 ULK3 Nonsynonymous SNV V348I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 320057 chr2 216176874 216176874 C T ATIC Synonymous SNV P3P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.54 320058 chr2 219221633 219221633 G A rs762116713 CATIP 0 0.003 0 0 0 1 0 0 0 0 0 0 12.97 320059 chr1 34663434 34663434 A G rs866552624 C1orf94 Nonsynonymous SNV Q310R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 320060 chr2 220111852 220111852 T C rs376776353 STK16 Synonymous SNV N108N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.068 320061 chr22 23406099 23406099 G A rs149201608 RSPH14 Nonsynonymous SNV R212C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 320062 chr4 438101 438101 C G ZNF721 Nonsynonymous SNV G52A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 320063 chr2 220430134 220430134 G C OBSL1 Nonsynonymous SNV P746R 0 0.003 0 0 0 1 0 0 0 0 0 0 24 320064 chr22 24437592 24437592 T G rs888706501 CABIN1 Synonymous SNV V72V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.621 320065 chr2 223168535 223168535 A G CCDC140 0 0.003 0 0 0 1 0 0 0 0 0 0 3.91 320066 chr22 24896195 24896195 G T rs150740488 UPB1 Synonymous SNV G75G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.835 320067 chr22 25601185 25601185 A G rs755433835 CRYBB3 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 320068 chr15 31218039 31218039 T A rs762862920 FAN1 Synonymous SNV S795S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.732 320069 chr4 2702163 2702163 G A rs368509900 FAM193A Nonsynonymous SNV G1131S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.008 320070 chr22 30767339 30767339 A T rs1076297 KIAA1656 0 0 0.007 0 0 0 0 2 0 0 1 0 1.649 320071 chr15 90340826 90340826 C T rs746810178 ANPEP Nonsynonymous SNV E713K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 320072 chr22 30770944 30770949 TTTTTT - rs754459174 KIAA1656 0 0 0.007 0 0 0 0 2 0 0 1 0 320073 chr2 232320155 232320155 T G rs754163466 NCL Synonymous SNV G671G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.775 320074 chr2 232458711 232458711 C T rs146228407 TEX44 Nonsynonymous SNV T350I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 320075 chr15 99491883 99491883 G A rs373732310 IGF1R Nonsynonymous SNV R1223H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 320076 chr22 31486127 31486127 C A rs778167561 SMTN Nonsynonymous SNV Q332K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 320077 chr4 6107631 6107631 G A JAKMIP1 Nonsynonymous SNV H65Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 320078 chr1 55089017 55089017 C T rs758346504 FAM151A Nonsynonymous SNV G18S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.067 320079 chr15 42041944 42041944 C T rs995081810 MGA Nonsynonymous SNV P1838S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.188 320080 chr22 41623833 41623833 A G rs199653147 L3MBTL2 Synonymous SNV K616K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.875 320081 chr15 42979099 42979099 C T rs201393731 STARD9 Nonsynonymous SNV P1775S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 320082 chr15 42984934 42984934 C T rs375885860 STARD9 Stop gain Q3720X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 320083 chr15 42986810 42986810 G A rs760999003 STARD9 Synonymous SNV Q4283Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.086 320084 chr15 43020429 43020429 C A CDAN1 Synonymous SNV A947A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 320085 chr15 43585732 43585749 GCGCACAGTGAGCCGCTT - rs780363451 TGM7 K31_R36del 0.001 0 0 0 1 0 0 0 0 0 0 0 320086 chr22 42191828 42191828 C T rs201467990 MEI1 Synonymous SNV G1252G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.5 320087 chr2 241830999 241830999 G A rs751767470 MAB21L4 Synonymous SNV L232L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.019 320088 chr4 22389934 22389934 C G ADGRA3 Synonymous SNV A1120A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.21 320089 chr12 4609424 4609424 C T rs369213567 C12orf4 Synonymous SNV S224S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.72 320090 chr2 242407580 242407580 A G rs775908482 FARP2 Nonsynonymous SNV H640R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 320091 chr15 48812916 48812916 C T rs363855 FBN1 Nonsynonymous SNV G363S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 320092 chr16 2030671 2030671 A G rs982358801 NOXO1 Nonsynonymous SNV L69P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 320093 chr1 75038431 75038431 A C rs201222178 ERICH3 Nonsynonymous SNV M988R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.77 320094 chr4 40122176 40122176 C T rs141306546 N4BP2 Synonymous SNV S815S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.091 320095 chr15 59063609 59063609 C T MINDY2 Synonymous SNV P5P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.2 320096 chr22 50278866 50278866 G A ZBED4 Nonsynonymous SNV S519N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 320097 chr22 50279803 50279803 G A rs200359724 ZBED4 Synonymous SNV T831T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.132 320098 chr1 85395309 85395309 T C MCOLN2 Synonymous SNV E532E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.134 320099 chr16 28844472 28844472 T C rs773548614 ATXN2L Synonymous SNV D590D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.018 320100 chr16 28890936 28890936 G - ATP2A1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 320101 chr1 9034437 9034437 C A rs187434042 CA6 Nonsynonymous SNV S292R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.525 320102 chr15 73635880 73635880 A G HCN4 Nonsynonymous SNV V352A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 320103 chr1 92647151 92647151 C T KIAA1107 Nonsynonymous SNV T791I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 320104 chr1 92763031 92763031 G A rs200121546 GLMN Nonsynonymous SNV A32V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 320105 chr2 108627118 108627118 A T SLC5A7 Nonsynonymous SNV D410V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 320106 chr3 36873721 36873721 G A rs770360731 TRANK1 Synonymous SNV N2407N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.685 320107 chr1 97771751 97771751 C T rs145548112 DPYD Nonsynonymous SNV A721T 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 34 320108 chr2 124771882 124771882 T - rs765242657 LOC107985820 0 0 0.003 0 0 0 0 1 0 0 0 0 320109 chr2 124771884 124771884 - A rs750585119 LOC107985820 0 0 0.003 0 0 0 0 1 0 0 0 0 320110 chr2 128757654 128757654 T C SAP130 Nonsynonymous SNV T388A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 320111 chr4 85656214 85656214 T C rs761492187 WDFY3 Synonymous SNV Q2325Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.362 320112 chr15 86265481 86265481 T G rs778236431 AKAP13 Synonymous SNV V754V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.907 320113 chr15 89398358 89398358 G A rs368584197 ACAN Nonsynonymous SNV V848M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 320114 chr15 89444966 89444966 C T rs749318736 MFGE8 Nonsynonymous SNV G185E 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 320115 chr12 6568090 6568090 C T rs201307271 TAPBPL Nonsynonymous SNV A395V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.131 320116 chr20 2616629 2616629 G A rs375915161 TMC2 Synonymous SNV Q788Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.242 320117 chr12 6936041 6936041 G A rs367712836 GPR162 Nonsynonymous SNV R196H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 320118 chr13 20567298 20567298 C T rs746930699 ZMYM2 Nonsynonymous SNV T29M 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 320119 chr3 48600513 48600513 G C rs763726856 UCN2 Synonymous SNV G15G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.698 320120 chr3 49163399 49163399 C T rs140068188 LAMB2 0 0.003 0 0 0 1 0 0 0 0 0 0 27 320121 chr2 162730490 162730490 G T rs145064806 SLC4A10 Nonsynonymous SNV G308V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 320122 chr13 24413808 24413863 GCTGAAAAAAATCACAGTAAATGTACCCCAACAATCCTTCAGATTCATGAACAACA - MIPEP V422Sfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 320123 chr3 50232363 50232363 A G rs747068938 GNAT1 Nonsynonymous SNV N343S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 320124 chr2 171939356 171939356 T C TLK1 Nonsynonymous SNV T41A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 320125 chr2 173344443 173344443 C T rs572209759 ITGA6 Nonsynonymous SNV A488V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.226 320126 chr20 3845030 3845030 C T MAVS Synonymous SNV G110G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.682 320127 chr20 39802888 39802888 C T rs1035095665 PLCG1 Nonsynonymous SNV P1257L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 320128 chr20 43374776 43374776 C T KCNK15 Synonymous SNV G75G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 320129 chr16 1550098 1550098 C T rs1017883214 TELO2 Nonsynonymous SNV T312M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 320130 chr16 77398184 77398184 C G ADAMTS18 Nonsynonymous SNV K119N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 320131 chr3 58117680 58117680 C T FLNB Nonsynonymous SNV R1473C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 320132 chr2 179437928 179437928 T C rs56201325 TTN Nonsynonymous SNV T15246A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.324 320133 chr20 47841662 47841662 T A rs763528800 DDX27 Nonsynonymous SNV F207I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 320134 chr3 67054419 67054419 A G KBTBD8 Nonsynonymous SNV Y343C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 320135 chr2 179596569 179596569 C T rs374742663 TTN Nonsynonymous SNV R4434Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 320136 chr12 99020476 99020476 C A rs12322444 IKBIP Nonsynonymous SNV Q122H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 320137 chr3 98002576 98002576 T C rs72934925 OR5H2 Nonsynonymous SNV F282S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 320138 chr16 2235134 2235134 T G rs757183684 CASKIN1 Nonsynonymous SNV H406P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 320139 chr2 182542942 182542942 C T rs755299574 NEUROD1 Nonsynonymous SNV V216I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.14 320140 chr20 57045759 57045759 G A rs147147447 APCDD1L Nonsynonymous SNV R32C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 320141 chr16 23436124 23436124 C T rs767025710 COG7 Nonsynonymous SNV D319N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 320142 chr16 27760930 27760930 G A rs377469801 KIAA0556 Synonymous SNV P883P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.879 320143 chr20 60911434 60911434 A C rs148515817 LAMA5 Nonsynonymous SNV F762C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.8 320144 chr20 61444812 61444812 C T OGFR Synonymous SNV A615A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 320145 chr16 2946669 2946669 C T rs61739969 FLYWCH2 Synonymous SNV P73P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 320146 chr3 112648099 112648099 T A rs758430392 CD200R1 Nonsynonymous SNV Y130F 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 320147 chr4 185615930 185615930 G A PRIMPOL Synonymous SNV E476E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.259 320148 chr13 21721391 21721391 G A rs750783191 SAP18 Synonymous SNV S143S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 320149 chr13 23915453 23915453 T A rs879421228 SACS Nonsynonymous SNV K707N 0 0.003 0 0 0 1 0 0 0 0 0 0 6.25 320150 chr2 196746614 196746614 T C rs551623059 DNAH7 Nonsynonymous SNV I1956V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320151 chr16 29909210 29909210 G A rs752112419 SEZ6L2 Synonymous SNV L59L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 320152 chr2 197584377 197584377 C G CCDC150 Nonsynonymous SNV L126V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 320153 chr13 27255307 27255307 C T WASF3 Nonsynonymous SNV A275V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.84 320154 chr14 105615397 105615397 G A rs145627661 JAG2 Nonsynonymous SNV P557S 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.032 320155 chr20 62596016 62596016 T C rs749898180 ZNF512B Nonsynonymous SNV E363G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 320156 chr16 31153122 31153122 C T PRSS36 Nonsynonymous SNV D556N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 320157 chr14 105957764 105957764 G A TEDC1 Nonsynonymous SNV A18T 0.002 0 0 0 2 0 0 0 0 0 0 0 2.051 320158 chr13 32945172 32945172 A C rs11571747 BRCA2 Nonsynonymous SNV E2856A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28 320159 chr3 122437537 122437537 G A rs372502538 PARP14 Synonymous SNV A1513A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.47 320160 chr17 12655928 12655928 C G rs762123398 MYOCD Synonymous SNV A441A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.317 320161 chr3 124209700 124209700 A G rs529612300 KALRN Nonsynonymous SNV H1467R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.102 320162 chr2 210559326 210559326 A G MAP2 Nonsynonymous SNV D807G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 320163 chr21 32931629 32931629 G C rs943843492 LOC150051 Nonsynonymous SNV G19A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.756 320164 chr16 48139232 48139232 G A rs151150316 ABCC12 Stop gain Q831X 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 36 320165 chr21 33956499 33956499 G A rs747594911 TCP10L Nonsynonymous SNV T39M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.037 320166 chr21 34861384 34861384 A T rs769867600 DNAJC28 Nonsynonymous SNV V106E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 320167 chr16 5078069 5078069 T C NAGPA Synonymous SNV Q346Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 320168 chr2 219487443 219487443 G A rs894233666 PLCD4 Nonsynonymous SNV R205H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 320169 chr16 50664193 50664193 G A rs199930797 NKD1 Nonsynonymous SNV V187M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 320170 chr17 15942948 15942948 G A rs61755986 NCOR1 Nonsynonymous SNV H2149Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 320171 chr17 1650419 1650419 C T rs143651421 SERPINF2 Synonymous SNV G94G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.673 320172 chr3 140284993 140284993 C T rs565723050 CLSTN2 Synonymous SNV S922S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.51 320173 chr21 44985337 44985337 G A H2BFS Nonsynonymous SNV R73H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.162 320174 chr21 45670711 45670711 G A DNMT3L Synonymous SNV V297V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.202 320175 chr2 228783554 228783554 T C DAW1 Synonymous SNV H344H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.678 320176 chr16 66527221 66527221 G A BEAN1 Synonymous SNV G168G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.336 320177 chr16 67268310 67268310 C T rs148095513 FHOD1 Nonsynonymous SNV R462Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 320178 chr16 75298273 75298273 T G rs539173688 BCAR1 Synonymous SNV G42G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.242 320179 chr17 2599785 2599785 C T rs745874735 CLUH Nonsynonymous SNV G745S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 320180 chr2 234688420 234688420 G A rs1010839559 MROH2A Synonymous SNV S66S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 320181 chr16 703665 703665 T G rs540431538 WDR90 Synonymous SNV S458S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 320182 chr14 105423804 105423804 C T rs45455498 AHNAK2 Synonymous SNV P52P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.24 320183 chr5 70898334 70898334 G C MCCC2 Nonsynonymous SNV V129L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 320184 chr16 716048 716048 C T rs775845476 WDR90 Synonymous SNV S1511S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 320185 chr3 183225976 183225976 G A rs376809796 KLHL6 Synonymous SNV N260N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.235 320186 chr3 183732079 183732079 T A ABCC5 Nonsynonymous SNV E34D 0 0.003 0 0 0 1 0 0 0 0 0 0 4.387 320187 chr16 732968 732968 G A JMJD8 Synonymous SNV T203T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.511 320188 chr16 74760170 74760170 C T rs370682047 FA2H Nonsynonymous SNV R189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.69 320189 chr16 74761197 74761197 T C rs753898846 FA2H Nonsynonymous SNV R151G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 320190 chr16 74990489 74990489 C T rs748458391 WDR59 Nonsynonymous SNV V42I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 320191 chr16 75512873 75512873 C - CHST6 R285Lfs*96 0.001 0 0 0 1 0 0 0 0 0 0 0 320192 chr5 76331387 76331387 A G rs148385240 AGGF1 Nonsynonymous SNV Y112C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 16.14 320193 chr16 84132817 84132817 T C rs779138922 MBTPS1 Nonsynonymous SNV I88V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.219 320194 chr2 241628129 241628132 CCCT - rs72334094 LOC285191 0 0 0.003 0 0 0 0 1 0 0 0 0 320195 chr22 24237241 24237241 A G rs200286358 MIF Nonsynonymous SNV Y99C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 320196 chr17 3629313 3629313 G A rs375040861 HASPIN Nonsynonymous SNV R695Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320197 chr22 26830390 26830390 G A rs775505033 ASPHD2 Nonsynonymous SNV C270Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24 320198 chr3 195955031 195955031 A G SLC51A Synonymous SNV E136E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.579 320199 chr22 30685384 30685384 G A rs200243403 CASTOR1 Nonsynonymous SNV R35C 0 0 0.007 0 0 0 0 2 0 0 0 0 24.7 320200 chr4 655943 655943 C T rs141813304 PDE6B Synonymous SNV F160F 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.57 320201 chr14 77493762 77493770 TGCTGCTGC - rs781596503 IRF2BPL Q125_Q127del 0.002 0 0 0 2 0 0 0 0 0 0 0 320202 chr4 962100 962100 G A rs76581432 DGKQ Synonymous SNV A211A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.955 320203 chr14 35253110 35253110 C T BAZ1A Nonsynonymous SNV A587T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 320204 chr4 1657013 1657013 C A FAM53A Nonsynonymous SNV G192C 0 0.003 0 0 0 1 0 0 0 0 0 0 19.72 320205 chr16 88788229 88788229 A T PIEZO1 Nonsynonymous SNV I1734N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 320206 chr16 88788309 88788309 C G rs34346312 PIEZO1 Synonymous SNV S1707S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.92 320207 chr16 88804381 88804381 G C rs1049051852 PIEZO1 Synonymous SNV A327A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.1 320208 chr4 3319040 3319040 C T rs751957160 RGS12 Synonymous SNV P381P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.8 320209 chr17 10235539 10235539 C T MYH13 Synonymous SNV R725R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 320210 chr4 3520601 3520601 C T rs768452623 LRPAP1 Nonsynonymous SNV E197K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 320211 chr2 37501769 37501769 A G rs759230031 PRKD3 Synonymous SNV N482N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.748 320212 chr22 39078941 39078941 C T rs527611686 TOMM22 Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 320213 chr22 39910311 39910311 G A MIEF1 Nonsynonymous SNV V459M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 320214 chr22 42174813 42174813 C A rs771756050 MEI1 Nonsynonymous SNV Q938K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 320215 chr17 1679941 1679941 T C rs112099952 SERPINF1 Nonsynonymous SNV I114T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 320216 chr17 17942962 17942962 G A GID4 Nonsynonymous SNV G62S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 320217 chr14 64564675 64564675 C T rs141484654 SYNE2 Synonymous SNV I4039I 0 0.003 0 0 0 1 0 0 0 0 0 0 16.02 320218 chr14 65009125 65009125 C A HSPA2 Synonymous SNV R520R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.69 320219 chr14 65245887 65245887 C T rs756897454 SPTB Nonsynonymous SNV M1517I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.52 320220 chr17 46608181 46608181 G A rs753115367 HOXB1 Nonsynonymous SNV T29I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 320221 chr2 73145399 73145399 C A rs761657726 EMX1 Nonsynonymous SNV P140T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 320222 chr2 101099721 101099721 T A NMS Nonsynonymous SNV W153R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 320223 chr2 74842194 74842194 T C rs143027724 M1AP Nonsynonymous SNV Q108R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 320224 chr4 47458730 47458730 T C rs749660918 COMMD8 Nonsynonymous SNV N80S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.212 320225 chr4 52765526 52765526 T C rs199888181 DCUN1D4 Synonymous SNV Y199Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.997 320226 chr2 96874471 96874471 C T rs540040550 STARD7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 320227 chr17 56565220 56565220 G A HSF5 Nonsynonymous SNV A139V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 320228 chr2 97531206 97531206 T G SEMA4C Synonymous SNV P163P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.379 320229 chr2 98994159 98994159 G A rs138888861 CNGA3 Synonymous SNV S37S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.26 320230 chr17 31618984 31618984 C G rs529518104 ASIC2 Synonymous SNV G50G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.63 320231 chr3 107646869 107646869 G A rs115077636 LINC00636 0 0 0.007 0 0 0 0 2 0 0 0 0 9.446 320232 chr3 107646870 107646870 C G rs77044019 LINC00636 0 0 0.007 0 0 0 0 2 0 0 0 0 7.734 320233 chr5 157218891 157218891 C T rs749599431 CLINT1 Synonymous SNV A400A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 320234 chr4 82095974 82095974 G A rs772859724 PRKG2 Nonsynonymous SNV P201S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 320235 chr3 113374976 113374976 G A rs377118541 USF3 Synonymous SNV S1851S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.461 320236 chr17 6704242 6704242 G T rs773211621 TEKT1 Synonymous SNV S291S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.069 320237 chr15 31362149 31362149 C G TRPM1 Nonsynonymous SNV G100R 0 0.005 0 0 0 2 0 0 0 0 0 0 6.047 320238 chr3 121416797 121416797 C T rs777821844 GOLGB1 Nonsynonymous SNV R778H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 320239 chr17 6927890 6927890 C T rs773938776 BCL6B Nonsynonymous SNV A191V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 320240 chr2 162361987 162361987 G A rs941566197 AHCTF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 320241 chr15 41146854 41146854 G A rs144910384 SPINT1 Nonsynonymous SNV E362K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 320242 chr17 72522158 72522158 C T rs114130167 CD300LB Synonymous SNV T33T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 320243 chr3 125826750 125826750 C T rs549469159 ALDH1L1-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 10.46 320244 chr4 113189482 113189482 G A rs145829842 AP1AR Nonsynonymous SNV E243K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 320245 chr4 113352955 113352955 C T rs145634473 ALPK1 Nonsynonymous SNV P673L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.5 320246 chr4 113544985 113544985 A C ZGRF1 Synonymous SNV L50L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.588 320247 chr2 179435026 179435026 C T rs769729114 TTN Nonsynonymous SNV R16213H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 320248 chr3 132420336 132420336 C T rs770658106 NPHP3 Synonymous SNV P522P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 320249 chr17 73838630 73838630 G C UNC13D Synonymous SNV P151P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.868 320250 chr3 133653566 133653566 G A rs72978391 SLCO2A1 Synonymous SNV G641G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.829 320251 chr6 12125378 12125378 A G rs765575861 HIVEP1 Nonsynonymous SNV S1784G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.025 320252 chr3 134089574 134089574 G A rs34700505 AMOTL2 Synonymous SNV R292R 0 0 0.007 0 0 0 0 2 0 0 0 0 11.6 320253 chr2 183622533 183622533 A T DNAJC10 Nonsynonymous SNV N596Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 320254 chr17 4442953 4442953 G A MYBBP1A Synonymous SNV S1248S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.364 320255 chr3 139071543 139071543 C T rs147739245 MRPS22 Nonsynonymous SNV R222C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 320256 chr15 49833875 49833875 A C FAM227B 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 320257 chr17 45918092 45918092 C T rs769298386 SCRN2 Nonsynonymous SNV V40M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 320258 chr4 146002881 146002881 C T rs35257136 ANAPC10 Nonsynonymous SNV R46Q 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 320259 chr3 142224097 142224097 C T ATR Nonsynonymous SNV A1630T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 320260 chr4 151509257 151509257 G A rs146901365 LRBA Synonymous SNV S2091S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.247 320261 chr4 152507912 152507912 G A FAM160A1 Synonymous SNV Q284Q 0 0.003 0 0 0 1 0 0 0 0 0 0 10.56 320262 chr3 14746050 14746050 A G rs375688288 C3orf20 Nonsynonymous SNV H240R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.01 320263 chr2 189910613 189910613 C T rs149574060 COL5A2 Synonymous SNV G1074G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.88 320264 chr17 47924575 47924575 C A rs201896080 FLJ45513 0.001 0 0 0 1 0 0 0 0 0 0 0 8.352 320265 chr3 150916962 150916962 A G rs748712688 GPR171 Nonsynonymous SNV I71T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 320266 chr3 15219264 15219264 G A rs868294933 COL6A4P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.331 320267 chr17 48271396 48271396 C T rs558173513 COL1A1 Nonsynonymous SNV A559T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 320268 chr17 53111604 53111604 A G rs113087507 STXBP4 Nonsynonymous SNV N280S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 320269 chr17 53237185 53237185 C T rs115962086 STXBP4 Synonymous SNV I525I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.29 320270 chr6 35053676 35053676 C G rs201812720 ANKS1A Nonsynonymous SNV P1089R 0 0 0 1 0 0 0.003 0 0 0 0 0 33 320271 chr6 35446289 35446289 G A rs201468192 TEAD3 Synonymous SNV I134I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.74 320272 chr6 35911752 35911752 C T rs201239517 SLC26A8 Synonymous SNV R841R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.896 320273 chr6 35930367 35930367 A T SLC26A8 Nonsynonymous SNV V361D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 320274 chr6 36172584 36172584 C A BRPF3 Nonsynonymous SNV A533D 0 0 0 1 0 0 0.003 0 0 0 0 0 32 320275 chr4 184190256 184190256 A G rs771102743 WWC2 Synonymous SNV Q780Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.202 320276 chr17 56290438 56290438 C A rs201237547 MKS1 Nonsynonymous SNV G52W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24 320277 chr17 79517677 79517677 G A rs141572774 FAAP100 Synonymous SNV P281P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 320278 chr2 215884380 215884380 C T rs76834896 ABCA12 Synonymous SNV A158A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.23 320279 chr15 74425453 74425453 C A ISLR2 Nonsynonymous SNV R120S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 320280 chr15 74883989 74883989 C T rs761845082 ARID3B Synonymous SNV T418T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.733 320281 chr17 62551008 62551008 G T rs376057787 SMURF2 Nonsynonymous SNV P572T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.44 320282 chr17 8794115 8794115 G A rs150735911 PIK3R5 Synonymous SNV H199H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.08 320283 chr17 62510426 62510426 G T CEP95 Nonsynonymous SNV G106V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 320284 chr3 186791979 186791979 C T rs2228452 ST6GAL1 Synonymous SNV N279N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 320285 chr2 220503589 220503589 G A rs200325732 SLC4A3 Synonymous SNV T1034T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.801 320286 chr2 225266000 225266000 T C rs768671588 FAM124B Synonymous SNV R162R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.93 320287 chr18 22807288 22807288 G A rs150773522 ZNF521 Synonymous SNV S198S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.698 320288 chr5 32087947 32087947 G A PDZD2 Nonsynonymous SNV G1465R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.41 320289 chr5 32385704 32385704 T C rs866576453 ZFR Nonsynonymous SNV I851V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.42 320290 chr2 231109769 231109769 C T rs193051576 SP140 Nonsynonymous SNV A213V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 320291 chr16 28844172 28844172 A G rs764569451 ATXN2L Synonymous SNV Q547Q 0.002 0 0 0 2 0 0 0 0 0 0 0 9.626 320292 chr17 71751851 71751851 G C rs941263836 LOC100134391 0.001 0 0 0 1 0 0 0 0 0 0 0 0.186 320293 chr18 30804839 30804839 C T rs144365664 CCDC178 Nonsynonymous SNV R573K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 320294 chr18 33059306 33059306 C T rs769397614 INO80C Nonsynonymous SNV A58T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320295 chr5 40853048 40853048 C G rs16870407 CARD6 Nonsynonymous SNV S538R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 320296 chr5 44815219 44815219 G T MRPS30 Nonsynonymous SNV G412V 0 0.003 0 0 0 1 0 0 0 0 0 0 32 320297 chr17 73482373 73482373 G A rs143349328 TMEM94 Nonsynonymous SNV R102H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.834 320298 chr15 94945223 94945223 C T MCTP2 Nonsynonymous SNV T275I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.97 320299 chr5 54593201 54593201 T G rs144225273 DHX29 Nonsynonymous SNV Q96P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 23.3 320300 chr17 7352040 7352040 C T rs142067673 CHRNB1 Synonymous SNV N251N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.62 320301 chr17 73831527 73831527 G A UNC13D Nonsynonymous SNV A604V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320302 chr5 61694647 61694647 G A rs760325592 DIMT1 Nonsynonymous SNV T101M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 320303 chr17 73946996 73946996 T C ACOX1 Nonsynonymous SNV N348S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 320304 chr2 241666245 241666245 C T rs951775920 KIF1A Nonsynonymous SNV E1273K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.8 320305 chr5 73069807 73069807 A G rs373182168 ARHGEF28 Synonymous SNV T201T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.865 320306 chr17 7608929 7608929 C T rs763039729 EFNB3 Nonsynonymous SNV H5Y 0.002 0 0 0 2 0 0 0 0 0 0 0 17.01 320307 chr2 27373156 27373156 C T rs748170605 TCF23 Nonsynonymous SNV R130C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 320308 chr3 49149834 49149834 C T rs752502439 USP19 Nonsynonymous SNV R767H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 320309 chr18 74962713 74962713 C T rs765419205 GALR1 Nonsynonymous SNV T70I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 320310 chr2 28755021 28755021 G A rs746840393 PLB1 Nonsynonymous SNV S172N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 320311 chr17 7750186 7750186 - ACCACCACC KDM6B P264_L265insPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 320312 chr18 77664108 77664108 C T rs772200547 SLC66A2 Synonymous SNV L210L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.708 320313 chr3 51864489 51864489 G A rs767555727 IQCF3 Nonsynonymous SNV G46E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 320314 chr2 32819005 32819005 C G BIRC6 Nonsynonymous SNV T4460R 0 0 0.003 0 0 0 0 1 0 0 0 0 22 320315 chr2 36774275 36774275 G C CRIM1 Nonsynonymous SNV Q965H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 320316 chr19 1011906 1011906 G A rs770433599 TMEM259 Synonymous SNV A309A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.052 320317 chr2 39042718 39042718 T G rs150735204 DHX57 Nonsynonymous SNV E1082A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.18 320318 chr5 96106278 96106278 A G rs749027472 CAST Nonsynonymous SNV N634S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.429 320319 chr3 62358196 62358196 - CCGCCGCCG FEZF2 G117_A118insGGG 0 0 0.003 0 0 0 0 1 0 0 0 0 320320 chr3 63981399 63981399 C T rs138640161 ATXN7 Nonsynonymous SNV A489V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 320321 chr3 69038149 69038149 T C rs994773495 EOGT Nonsynonymous SNV D284G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 320322 chr3 93733855 93733855 G C rs751522765 STX19 Nonsynonymous SNV L87V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.139 320323 chr2 61484408 61484408 C T rs199729668 USP34 Synonymous SNV G1974G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 320324 chr19 1371163 1371163 C T PWWP3A Nonsynonymous SNV P623L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.758 320325 chr5 127510344 127510344 C G rs775078728 SLC12A2 Nonsynonymous SNV P972R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.158 320326 chr2 64863175 64863175 G A rs562552269 SERTAD2 Synonymous SNV D277D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.297 320327 chr19 1465910 1465910 T C rs768785607 APC2 Synonymous SNV D869D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 320328 chr3 9833036 9833036 C T TADA3 Nonsynonymous SNV G39S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 320329 chr2 71627633 71627633 T C ZNF638 Synonymous SNV N894N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 320330 chr2 71694016 71694016 C G DYSF Nonsynonymous SNV A15G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 320331 chr4 106164862 106164863 CT - TET2 Y1245Lfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 320332 chr18 29264285 29264285 G A rs951694327 B4GALT6 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 320333 chr18 31538287 31538287 G A rs367981463 NOL4 Synonymous SNV D99D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.844 320334 chr5 139743728 139743728 G C rs374654422 SLC4A9 Synonymous SNV T437T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.093 320335 chr5 140236426 140236426 G C rs781868199 PCDHA10 Nonsynonymous SNV A265P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 320336 chr7 1479698 1479698 C T rs201339113 MICALL2 Nonsynonymous SNV R610Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.059 320337 chr18 44171979 44171979 C T rs187658135 LOXHD1 Nonsynonymous SNV R524H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 320338 chr4 123664232 123664232 G A rs377611257 BBS12 Synonymous SNV L395L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.29 320339 chr2 99936207 99936207 T C rs750013704 TXNDC9 Nonsynonymous SNV T207A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 320340 chr5 141049609 141049609 A T rs941976222 ARAP3 Nonsynonymous SNV V710E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 320341 chr18 57115229 57115229 C G rs763945366 CCBE1 Nonsynonymous SNV G254A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 320342 chr3 110852769 110852769 T G NECTIN3 Nonsynonymous SNV S453A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 320343 chr5 145503551 145503551 C T rs199688556 LARS1 Synonymous SNV S984S 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 19.1 320344 chr19 18879486 18879486 C T rs770774078 CRTC1 Synonymous SNV S401S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.14 320345 chr4 152048815 152048815 G A rs199508007 SH3D19 Synonymous SNV A678A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 320346 chr7 21598544 21598544 C A DNAH11 Nonsynonymous SNV S207Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23 320347 chr18 67563193 67563193 C T rs768831282 CD226 Synonymous SNV T2T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 320348 chr4 16587560 16587560 G C LDB2 Synonymous SNV T200T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.45 320349 chr4 166300676 166300676 G C CPE Nonsynonymous SNV E101D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 320350 chr19 23837333 23837333 T C rs143447421 ZNF675 Synonymous SNV Q134Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 320351 chr5 153377377 153377377 G C FAM114A2 Nonsynonymous SNV L369V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 320352 chr5 156934104 156934104 A G ADAM19 Nonsynonymous SNV M317T 0 0.003 0 0 0 1 0 0 0 0 0 0 16.99 320353 chr4 183717864 183717864 G T rs368776181 TENM3 Nonsynonymous SNV D2430Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 320354 chr4 187004851 187004851 C T rs144019953 TLR3 Synonymous SNV L671L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.072 320355 chr19 36336601 36336601 A G rs757670920 NPHS1 Nonsynonymous SNV V576A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 320356 chr3 134077435 134077435 G A rs145365504 AMOTL2 Nonsynonymous SNV P801L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 1.927 320357 chr5 176522425 176522425 T C rs138449854 FGFR4 Synonymous SNV G498G 0 0.003 0 0 0 1 0 0 0 0 0 0 6.886 320358 chr17 32687649 32687649 C T rs780220490 CCL1 Nonsynonymous SNV A74T 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 320359 chr4 25419908 25419908 G T rs3214036 ANAPC4 Synonymous SNV S778S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.953 320360 chr19 39390785 39390785 C T rs116900177 NFKBIB Nonsynonymous SNV A38V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320361 chr4 40440179 40440179 G A rs960434975 RBM47 Synonymous SNV T244T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.189 320362 chr3 153973236 153973236 T C rs201707250 ARHGEF26 Synonymous SNV L864L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.119 320363 chr6 10557405 10557405 C T GCNT2 Nonsynonymous SNV P250L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.838 320364 chr4 54373631 54373631 G C rs756281682 LNX1 Nonsynonymous SNV P114A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.152 320365 chr19 42190972 42190972 T C rs782360903 CEACAM7 Nonsynonymous SNV Y82C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.185 320366 chr6 13185178 13185178 T A PHACTR1 Nonsynonymous SNV L179H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 320367 chr19 42753837 42753837 G A rs368169058 ERF Nonsynonymous SNV R68C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 320368 chr4 57797371 57797371 C T rs755806745 REST Nonsynonymous SNV P783S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.498 320369 chr19 42852556 42852556 G A rs1015184528 MEGF8 Nonsynonymous SNV V744M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.669 320370 chr19 1821595 1821595 G A rs780928705 REXO1 Nonsynonymous SNV R773C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 320371 chr3 176769353 176769353 T A rs189284362 TBL1XR1 Synonymous SNV G35G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.6 320372 chr4 62863903 62863903 C A ADGRL3 Synonymous SNV I1019I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.59 320373 chr3 179104280 179104280 G A rs752585088 MFN1 Synonymous SNV L625L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 320374 chr19 1987562 1987562 C A rs149364482 BTBD2 Nonsynonymous SNV S373I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320375 chr19 18572389 18572389 T C rs773347459 ELL Nonsynonymous SNV Q248R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 320376 chr4 7056488 7056488 C T rs757960745 TADA2B Synonymous SNV L324L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 320377 chr19 44661065 44661065 G A rs374520249 ZNF234 Nonsynonymous SNV R299H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 320378 chr19 30934589 30934589 C T rs61742740 ZNF536 Synonymous SNV T40T 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.323 320379 chr19 30935201 30935201 T C rs79971318 ZNF536 Synonymous SNV A244A 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 320380 chr19 30935426 30935426 G T rs77357847 ZNF536 Synonymous SNV V319V 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.002 320381 chr19 30936296 30936296 A T rs61746682 ZNF536 Synonymous SNV S609S 0.001 0.005 0 0 1 2 0 0 0 0 0 0 0.001 320382 chr3 192988476 192988476 A G PLAAT1 Synonymous SNV Q163Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 320383 chr19 45854587 45854593 CCAGCAC - rs752472530 KLC3 S497Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 320384 chr17 27441952 27441952 G A rs374009186 MYO18A Synonymous SNV F828F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.43 320385 chr19 3053973 3053973 G A rs774218921 TLE5 Synonymous SNV P146P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.979 320386 chr6 33638992 33638992 C T rs763404955 ITPR3 Synonymous SNV S879S 0 0.003 0 0 0 1 0 0 0 0 0 0 19.49 320387 chr6 33652393 33652393 A T rs776351778 ITPR3 Nonsynonymous SNV M1689L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.9 320388 chr4 843711 843711 C T GAK Nonsynonymous SNV R1189H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 320389 chr3 195595404 195595404 C T rs751954076 TNK2 Nonsynonymous SNV G606S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 320390 chr19 34263020 34263020 - CGCCGT CHST8 R113_L114insRR 0.001 0 0 0 1 0 0 0 0 0 0 0 320391 chr3 25792665 25792665 C T rs373961978 NGLY1 Synonymous SNV A194A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.55 320392 chr4 88537423 88537423 T C rs115597449 DSPP Synonymous SNV D1203D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 320393 chr19 35512482 35512482 G A rs769675585 GRAMD1A Nonsynonymous SNV G511S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 320394 chr4 957073 957073 C T rs368255631 DGKQ Synonymous SNV A580A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.108 320395 chr5 10256186 10256186 A G rs202190887 CCT5 Nonsynonymous SNV I96V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.32 320396 chr17 3785664 3785664 G A rs527721577 CAMKK1 Nonsynonymous SNV A229V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.197 320397 chr19 36271837 36271837 G A rs142581391 ARHGAP33 Nonsynonymous SNV R146H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 320398 chr19 36368644 36368644 T C rs755121873 APLP1 Nonsynonymous SNV L490P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 320399 chr3 42727321 42727321 G A rs375331819 KLHL40 Nonsynonymous SNV E71K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 320400 chr19 50104862 50104862 C T rs373218764 PRR12 Nonsynonymous SNV P1487L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.16 320401 chr5 114466307 114466307 C T rs755557677 TRIM36 Nonsynonymous SNV R450Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 320402 chr5 121736766 121736766 G C rs943970098 SNCAIP Nonsynonymous SNV R48T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.41 320403 chr3 44776726 44776726 G A rs201277677 ZNF501 Synonymous SNV E271E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.806 320404 chr5 125968261 125968261 G A rs147526168 TEX43 Nonsynonymous SNV R37Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 320405 chr7 128470885 128470885 G C FLNC Nonsynonymous SNV S65T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.86 320406 chr6 70926749 70926749 G A COL9A1 Stop gain R630X 0 0.003 0 0 0 1 0 0 0 0 0 0 43 320407 chr5 138728495 138728495 T G PROB1 Nonsynonymous SNV E759A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.462 320408 chr5 140347784 140347784 T C rs781870271 PCDHAC2 Nonsynonymous SNV I478T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 320409 chr6 102307214 102307214 A G GRIK2 Nonsynonymous SNV D457G 0 0.003 0 0 0 1 0 0 0 0 0 0 27 320410 chr5 140741253 140741276 GCGCGCCTTCGATCATGAGCAGCT - rs772108372 PCDHGB2 D521_F528del 0 0 0.003 0 0 0 0 1 0 0 0 0 320411 chr5 140746234 140746234 C G rs267600454 PCDHGA5 Synonymous SNV L779L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 320412 chr5 140751521 140751526 CGACCA - rs779335418 PCDHGB3 D521_H522del 0 0 0.003 0 0 0 0 1 0 0 0 0 320413 chr5 140751527 140751527 C T rs771450244 PCDHGB3 Synonymous SNV H522H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 320414 chr5 1414807 1414807 G A rs145114326 SLC6A3 Synonymous SNV D385D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.955 320415 chr3 73440206 73440206 G A rs201195316 PDZRN3 Nonsynonymous SNV T137M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 320416 chr3 87325496 87325496 G A rs370682988 POU1F1 Synonymous SNV N39N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 320417 chr5 148689625 148689625 G A rs375742704 AFAP1L1 Nonsynonymous SNV R252H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 320418 chr3 89456514 89456514 A G rs55712516 EPHA3 Nonsynonymous SNV I564V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.074 320419 chr3 9094804 9094804 G A rs377445818 SRGAP3 Synonymous SNV S410S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 320420 chr3 96706651 96706651 A C EPHA6 Nonsynonymous SNV M310L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.43 320421 chr19 56001253 56001253 G A rs1027034371 SSC5D Synonymous SNV Q122Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.876 320422 chr4 10446466 10446466 C T rs202108142 ZNF518B Nonsynonymous SNV R496H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.45 320423 chr19 57050546 57050546 C T rs769215555 ZFP28 Synonymous SNV L53L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.33 320424 chr5 172382175 172382175 A G rs145773750 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 0.793 320425 chr5 172385183 172385183 C T rs181644830 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 5.993 320426 chr5 172385213 172385213 G C rs186867225 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 0.974 320427 chr19 5918567 5918567 C T rs371183181 RANBP3 Synonymous SNV K398K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.14 320428 chr5 21802529 21802529 G A rs576556751 CDH12 Nonsynonymous SNV P111S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 320429 chr5 32048695 32048695 C T rs367975237 PDZD2 Nonsynonymous SNV R524W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 320430 chr5 32090834 32090834 G A rs780351284 PDZD2 Nonsynonymous SNV R2427Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 320431 chr4 154216844 154216844 A G TRIM2 Nonsynonymous SNV N362S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 320432 chr6 167754828 167754828 T G TTLL2 Synonymous SNV P480P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.923 320433 chr5 35066164 35066164 T C PRLR Nonsynonymous SNV Q198R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 320434 chr5 38451445 38451445 A C EGFLAM Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23 320435 chr5 41172413 41172413 A G rs139261476 C6 Nonsynonymous SNV I402T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.014 320436 chr7 1786141 1786141 C T ELFN1 Nonsynonymous SNV R637C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 320437 chr17 72860188 72860188 C T FDXR Nonsynonymous SNV G295D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 320438 chr5 442330 442330 C T rs563301903 EXOC3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.527 320439 chr19 860898 860898 T G rs774965040 CFD Nonsynonymous SNV S91A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 320440 chr8 30700546 30700546 A G TEX15 Synonymous SNV A2379A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.018 320441 chr4 178881927 178881927 A G LINC01098 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 320442 chr5 55250812 55250812 G A rs199939306 IL6ST Nonsynonymous SNV P94S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 320443 chr19 53384826 53384826 C T rs142947258 ZNF320 Nonsynonymous SNV G185R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 12.4 320444 chr17 7611315 7611315 C T rs146098500 EFNB3 Synonymous SNV I54I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.06 320445 chr5 64756144 64756144 C A rs139864360 ADAMTS6 Nonsynonymous SNV D162Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 320446 chr5 64906689 64906689 T C TRIM23 Nonsynonymous SNV H276R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.225 320447 chr5 64925792 64925792 G A rs192136031 SHLD3 Synonymous SNV Q126Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 320448 chr17 76230682 76230682 C T rs555201618 TMEM235 Nonsynonymous SNV R67C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 320449 chr4 187542230 187542230 T C rs375087017 FAT1 Nonsynonymous SNV Y1837C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 320450 chr5 72419250 72419250 A G rs959420898 TMEM171 Nonsynonymous SNV H17R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320451 chr17 78014021 78014021 G A rs74000351 CCDC40 Synonymous SNV P168P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.802 320452 chr5 76128963 76128963 C T F2RL1 Synonymous SNV I177I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 320453 chr5 8461303 8461303 A T rs16880645 MIR4458HG 0 0 0.003 0 0 0 0 1 0 0 0 0 7.681 320454 chr5 89706332 89706332 A G rs867779294 LOC731157 0 0 0.003 0 0 0 0 1 0 0 0 0 6.848 320455 chr1 11014199 11014199 G C rs144723358 C1orf127 Nonsynonymous SNV R187G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 320456 chr5 90445884 90445884 A G rs200111522 ADGRV1 Nonsynonymous SNV N6157S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.4 320457 chr17 8020115 8020115 C T rs780839083 ALOXE3 Nonsynonymous SNV V111M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.617 320458 chr7 44112751 44112751 T C rs28382662 POLM Synonymous SNV Q479Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.905 320459 chr6 107955940 107955940 C T SOBP Nonsynonymous SNV P631L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.417 320460 chr19 56895408 56895408 A G rs116899216 ZNF582 Synonymous SNV L491L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.152 320461 chr18 76754759 76754759 G A rs369671285 SALL3 Nonsynonymous SNV G923D 0.002 0 0 0 2 0 0 0 0 0 0 0 0.015 320462 chr19 58441871 58441871 T C rs752262801 ZNF418 Nonsynonymous SNV S20G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.196 320463 chr19 58823634 58823634 C T rs141144438 ERVK3-1, ZNF8-ERVK3-1 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 320464 chr1 120457974 120457974 T C NOTCH2 Synonymous SNV T2457T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 320465 chr4 71859582 71859582 G C rs772742361 DCK Synonymous SNV P10P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.135 320466 chr1 1271766 1271766 C T DVL1 Nonsynonymous SNV S615N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.265 320467 chr4 7640153 7640153 C T rs981960074 SORCS2 Synonymous SNV F249F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.812 320468 chr4 76846949 76846949 C T NAAA Stop gain W202X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 320469 chr8 144887419 144887419 G A SCRIB Nonsynonymous SNV R845C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 320470 chr7 94989419 94989419 A T rs762563746 PON3 Nonsynonymous SNV S311T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.94 320471 chr18 47753978 47753978 G A rs750636617 CFAP53 Nonsynonymous SNV R440C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 320472 chr4 95532300 95532300 A G rs540823063 PDLIM5 Nonsynonymous SNV Y319C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.13 320473 chr1 155733233 155733233 T G GON4L Synonymous SNV A1532A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 320474 chr1 155796746 155796746 G C rs200223409 GON4L Nonsynonymous SNV S193R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.52 320475 chr6 157100820 157100820 C T rs1000612645 MIR4466 0 0 0.003 0 0 0 0 1 0 0 0 0 9.688 320476 chr1 156593301 156593309 CTCCCCACA - rs773410470 HAPLN2 P8_L10del 0.001 0 0 0 1 0 0 0 0 0 0 0 320477 chr1 156646535 156646535 C T NES Synonymous SNV E174E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 320478 chr1 109394540 109394540 G A rs145845860 AKNAD1 Synonymous SNV Y249Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.283 320479 chr6 169625286 169625286 C T THBS2 Synonymous SNV R909R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 320480 chr6 170190406 170190406 G C rs942196411 LINC00242, LINC00574 0 0 0.003 0 0 0 0 1 0 0 0 0 6.416 320481 chr19 2078473 2078473 G A rs10419889 MOB3A Synonymous SNV F29F 0.002 0 0 0 2 0 0 0 0 0 0 0 6.56 320482 chr7 107752307 107752307 T A LAMB4 Nonsynonymous SNV I93F 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 320483 chr6 26157155 26157155 C T rs754078818 HIST1H1E Synonymous SNV A179A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 320484 chr6 26157158 26157158 G T HIST1H1E Nonsynonymous SNV K180N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 320485 chr1 11090885 11090885 G A rs143981111 MASP2 Nonsynonymous SNV T381I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.3 320486 chr5 139235298 139235298 C T rs148224262 NRG2 Nonsynonymous SNV V353M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 320487 chr7 117375342 117375342 G T rs778055419 CTTNBP2 Nonsynonymous SNV S1205R 0 0.003 0 0 0 1 0 0 0 0 0 0 19.71 320488 chr5 140237157 140237157 G A rs144978636 PCDHA10 Synonymous SNV S508S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.798 320489 chr5 140762705 140762705 G A rs538619604 PCDHGA7 Nonsynonymous SNV R80H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 320490 chr6 34949667 34949667 C T rs755301954 ANKS1A Synonymous SNV N212N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 320491 chr6 35393647 35393647 A G rs199866665 PPARD Nonsynonymous SNV I275V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 320492 chr1 172628542 172628542 G A rs778376020 FASLG Synonymous SNV P67P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.4 320493 chr7 139164953 139164953 C T rs139482497 KLRG2 Synonymous SNV A266A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.45 320494 chr7 140534563 140534563 A C rs397507461 BRAF Nonsynonymous SNV M117R 0 0.003 0 0 0 1 0 0 0 0 0 0 3.13 320495 chr7 142573407 142573407 C T rs145037990 TRPV6 Synonymous SNV P352P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.01 320496 chr7 149129881 149129881 C T rs765451167 ZNF777 Synonymous SNV E494E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.751 320497 chr7 149129883 149129883 C T rs763348005 ZNF777 Nonsynonymous SNV E494K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.5 320498 chr6 43251078 43251078 C T rs578259245 TTBK1 Nonsynonymous SNV P867L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 320499 chr5 154395173 154395173 C A KIF4B Nonsynonymous SNV A585E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 320500 chr1 152081685 152081688 TCTG - rs761331359 TCHH D1335Efs*88 0.001 0 0 0 1 0 0 0 0 0 0 0 320501 chr7 150915846 150915846 G A rs550165555 ABCF2, LOC114483834 Synonymous SNV S377S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 320502 chr6 51923345 51923345 G T rs727504094 PKHD1 Nonsynonymous SNV Q430K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.46 320503 chr5 171773172 171773172 C T rs777452588 SH3PXD2B Nonsynonymous SNV G386S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 320504 chr1 155887458 155887458 C T rs565165421 KHDC4 Synonymous SNV P424P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 320505 chr7 158545523 158545523 T C ESYT2 Synonymous SNV L477L 0 0.003 0 0 0 1 0 0 0 0 0 0 18.81 320506 chr8 195978 195978 G A rs770706627 ZNF596 Synonymous SNV V377V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.431 320507 chr8 8749348 8749348 C T rs144056636 MFHAS1 Synonymous SNV Q407Q 0 0.003 0 0 0 1 0 0 0 0 0 0 8.282 320508 chr6 72011260 72011260 A G rs149936579 OGFRL1 Synonymous SNV R289R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 0.058 320509 chr5 1878607 1878607 C T IRX4 Nonsynonymous SNV V346I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.57 320510 chr8 11167105 11167105 C A rs149393678 MTMR9 Nonsynonymous SNV D293E 0 0.003 0 0 0 1 0 0 0 0 0 0 32 320511 chr9 129456083 129456083 T G rs762956079 LMX1B Nonsynonymous SNV L293R 0 0 0 2 0 0 0.005 0 0 0 0 1 12.77 320512 chr1 161719882 161719882 C T rs148273673 DUSP12 Synonymous SNV C97C 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 320513 chr9 130687530 130687530 C T rs758224613 PIP5KL1 Nonsynonymous SNV R55Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 320514 chr8 17400833 17400833 T G rs201956263 SLC7A2 Synonymous SNV P35P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.332 320515 chr1 159683509 159683509 C T rs376890049 CRP Nonsynonymous SNV G161S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 320516 chr9 131071965 131071965 G A rs755549478 TRUB2 Nonsynonymous SNV T243I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 320517 chr5 39311452 39311452 C A C9 Stop gain E300X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 320518 chr1 167096331 167096331 G A rs773047471 DUSP27 Nonsynonymous SNV G655R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.914 320519 chr1 169838123 169838123 G T rs371743694 SCYL3 Nonsynonymous SNV P228H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 320520 chr8 23147446 23147446 G A rs555802428 R3HCC1 Nonsynonymous SNV G106S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 320521 chr1 16528992 16528992 C A rs201415943 ARHGEF19 Nonsynonymous SNV G662V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 320522 chr1 21011370 21011370 C T KIF17 Synonymous SNV V721V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.51 320523 chr19 36110583 36110583 G A rs771413344 HAUS5 Synonymous SNV L443L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.123 320524 chr19 36291002 36291002 C T rs142659188 PRODH2 Nonsynonymous SNV E517K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.43 320525 chr5 64272977 64272977 A G rs367948278 CWC27 Nonsynonymous SNV N390D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 320526 chr9 135522411 135522411 A C rs766448549 DDX31 Nonsynonymous SNV D439E 0 0 0 1 0 0 0.003 0 0 0 0 0 16.23 320527 chr5 71491141 71491141 A G rs374509371 MAP1B Synonymous SNV K527K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 320528 chr5 72469481 72469481 G A rs766542031 TMEM174 Synonymous SNV V137V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.129 320529 chr8 30704839 30704839 G A rs372841322 TEX15 Synonymous SNV A948A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 10.4 320530 chr19 37677044 37677044 G A rs532540104 ZNF585B Synonymous SNV P465P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.433 320531 chr19 37854206 37854206 G A rs752330599 ZNF875 Synonymous SNV G443G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.61 320532 chr19 38378118 38378118 T C rs570438766 WDR87 Nonsynonymous SNV M2065V 0 0.003 0 0 0 1 0 0 0 0 0 0 5.687 320533 chr19 38385422 38385422 G A rs569600271 WDR87 Synonymous SNV I307I 0 0.003 0 0 0 1 0 0 0 0 0 0 3.504 320534 chr19 38708130 38708130 G A rs756919311 DPF1 Synonymous SNV L260L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.558 320535 chr5 78919257 78919257 G A rs761708010 TENT2 Nonsynonymous SNV R137Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.23 320536 chr1 228391660 228391660 C T OBSCN-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 8.468 320537 chr19 39018360 39018360 A G rs778763130 RYR1 Nonsynonymous SNV D3582G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 16.57 320538 chr8 54852209 54852209 C T rs775762646 RGS20 Nonsynonymous SNV P80L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.22 320539 chr1 179961334 179961334 C T rs745381316 CEP350 Nonsynonymous SNV R125C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 320540 chr7 100684590 100684590 C T rs763282881 MUC17 Nonsynonymous SNV T3298M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.461 320541 chr5 82836874 82836874 C T rs184452501 VCAN Synonymous SNV D1697D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.5 320542 chr1 228495060 228495060 C T rs375717878 OBSCN Synonymous SNV A4098A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 320543 chr1 229636607 229636607 A G rs931015082 NUP133 Nonsynonymous SNV S137P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 320544 chr8 74692730 74692730 T C rs75549846 UBE2W Synonymous SNV L155L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.283 320545 chr8 75157093 75157093 C T rs75299101 JPH1 Nonsynonymous SNV V526I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.075 320546 chr8 77618612 77618612 G C rs761889928 ZFHX4 Nonsynonymous SNV Q763H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 14.22 320547 chr1 233394879 233394879 G A rs371499433 PCNX2 Synonymous SNV S243S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 320548 chr1 1920045 1920045 C A CFAP74 Nonsynonymous SNV A68S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 320549 chr1 192153435 192153435 T C rs746984371 RGS18 Synonymous SNV L153L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.967 320550 chr1 196254844 196254844 C T KCNT2 Synonymous SNV L806L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.5 320551 chr8 92261930 92261930 T C SLC26A7 Synonymous SNV H17H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.064 320552 chr6 105726048 105726048 G A rs368281704 PREP Nonsynonymous SNV R702W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 320553 chr8 95895077 95895077 T G rs758384981 CCNE2 Nonsynonymous SNV Q292P 0 0.003 0 0 0 1 0 0 0 0 0 0 18.97 320554 chr10 3178003 3178003 C T rs61731935 PFKP Nonsynonymous SNV A466V 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 320555 chr6 107955024 107955024 C T SOBP Nonsynonymous SNV P326S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.95 320556 chr6 107955028 107955028 C T rs747670932 SOBP Nonsynonymous SNV S327L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 320557 chr6 10874494 10874494 C T GCM2 Nonsynonymous SNV E419K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 320558 chr8 99168594 99168594 A G rs200026675 POP1 Nonsynonymous SNV S792G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.01 320559 chr1 236899878 236899878 A G rs963438528 ACTN2 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.446 320560 chr1 24082466 24082466 G A rs202158596 ELOA Nonsynonymous SNV R668Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.82 320561 chr1 24416577 24416577 G A rs776852662 MYOM3 Synonymous SNV T488T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.262 320562 chr7 138764228 138764228 C T ZC3HAV1 Nonsynonymous SNV A487T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 320563 chr6 125232885 125232886 TG - rs546476599 RNF217-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 320564 chr1 205052841 205052841 T C TMEM81 Nonsynonymous SNV E203G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 320565 chr1 207134377 207134377 G T rs761593099 FCAMR Synonymous SNV R282R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.769 320566 chr7 149171976 149171976 G A rs576818645 ZNF746 Synonymous SNV P479P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 320567 chr8 136594300 136594300 A G KHDRBS3 Nonsynonymous SNV E264G 0 0.003 0 0 0 1 0 0 0 0 0 0 24 320568 chr1 211452597 211452597 A G RCOR3 Nonsynonymous SNV E162G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.56 320569 chr8 139165248 139165248 A G FAM135B Synonymous SNV N490N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 320570 chr19 4695519 4695519 G A rs754533662 DPP9 Synonymous SNV V408V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 320571 chr6 151161245 151161245 C T rs117898584 PLEKHG1 Nonsynonymous SNV S1085F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 320572 chr1 249141989 249141989 C G rs574226745 ZNF672 Nonsynonymous SNV F172L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 320573 chr1 215408447 215408447 T A KCNK2 Nonsynonymous SNV C410S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.74 320574 chr1 27739080 27739080 T C rs770675350 WASF2 Synonymous SNV P270P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.75 320575 chr7 1511208 1511208 G A rs199528180 INTS1 Nonsynonymous SNV S2085L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 320576 chr1 28211859 28211859 G A rs149827349 THEMIS2 Nonsynonymous SNV E97K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 320577 chr6 154360404 154360404 A T OPRM1 Nonsynonymous SNV M37L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320578 chr7 151791333 151791333 G A GALNT11 Synonymous SNV R7R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.667 320579 chr6 159029369 159029369 G A rs749693947 TMEM181 Synonymous SNV P363P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.392 320580 chr1 35260257 35260257 G A rs758561735 GJA4 Nonsynonymous SNV R148H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320581 chr7 1626600 1626600 C T rs35666979 PSMG3-AS1 0 0 0.01 0 0 0 0 3 0 0 1 0 5.938 320582 chr1 36550867 36550867 C A rs751205923 TEKT2 Nonsynonymous SNV A87D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 320583 chr6 161582265 161582265 G A rs569843084 AGPAT4-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.745 320584 chr6 165827106 165827106 G A PDE10A Synonymous SNV S387S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 320585 chr1 34023349 34023349 G A rs536882056 CSMD2 Nonsynonymous SNV R2910C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 320586 chr8 145661001 145661001 G A rs201752642 MIR6893 0 0.003 0 0 0 1 0 0 0 0 0 0 0.476 320587 chr6 170627940 170627940 C T rs148225025 FAM120B Nonsynonymous SNV R500W 0 0 0.003 0 0 0 0 1 0 0 0 0 15.39 320588 chr1 39913784 39913784 A G rs762738213 MACF1 Nonsynonymous SNV N4624S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 320589 chr6 26056237 26056237 C T rs370764227 HIST1H1C Synonymous SNV K140K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.964 320590 chr1 233749990 233749990 T A rs143897532 KCNK1 Nonsynonymous SNV F25I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.04 320591 chr1 234895043 234895043 T A rs113358232 PP2672 0.001 0 0 0 1 0 0 0 0 0 0 0 7.728 320592 chr6 28059034 28059034 T C rs563247904 ZSCAN12P1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.995 320593 chr1 236908007 236908007 C T rs767041933 ACTN2 Nonsynonymous SNV A446V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 35 320594 chr9 15422921 15422921 G T rs776689417 SNAPC3 Nonsynonymous SNV G15V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 320595 chr7 45004669 45004669 C T rs768320893 MYO1G Nonsynonymous SNV V801M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 320596 chr6 36926981 36926981 C G rs777173411 PI16 Nonsynonymous SNV H78D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 320597 chr1 55464873 55464873 A G BSND Nonsynonymous SNV K5R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 320598 chr6 39286868 39286869 GC - rs757379499 KCNK16 G85Efs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 320599 chr6 39286870 39286870 C T rs146890431 KCNK16 Nonsynonymous SNV G85S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 320600 chr1 55119386 55119386 G C rs374661840 MROH7 Nonsynonymous SNV A263P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 320601 chr6 41658592 41658592 G T rs374238733 TFEB Synonymous SNV R107R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 320602 chr7 65444860 65444860 G T GUSB Synonymous SNV G145G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.604 320603 chr7 65996832 65996832 G A rs189414719 GS1-124K5.11 0 0 0.003 0 0 0 0 1 0 0 0 0 1.496 320604 chr9 79836122 79836122 C T rs1050278809 VPS13A Synonymous SNV G337G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 320605 chr9 86363255 86363255 T G rs149678796 GKAP1 Synonymous SNV A240A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.04 320606 chr7 86781804 86781804 C T rs538680455 LOC101927420 0 0 0.007 0 0 0 0 2 0 0 0 0 19.1 320607 chr6 47646843 47646843 G A ADGRF2 Synonymous SNV Q148Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.67 320608 chr9 97887430 97887430 T C rs1800366 FANCC Nonsynonymous SNV I312V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 320609 chr7 91746454 91746454 C A rs769100106 CYP51A1 Nonsynonymous SNV D419Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 320610 chr1 27216367 27216367 C G GPN2 Nonsynonymous SNV R74P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 320611 chr9 99212909 99212909 G C rs754559 HABP4 Synonymous SNV P116P 0 0.005 0.007 0 0 2 0 2 0 1 1 0 13.46 320612 chr7 98885595 98885595 G A rs555829252 MYH16 0 0 0.007 0 0 0 0 2 0 0 0 0 11.07 320613 chr8 104153549 104153549 G T rs62527607 BAALC-AS2 0 0 0.007 0 0 0 0 2 0 0 1 0 7.693 320614 chr8 104388106 104388106 C G rs145838701 CTHRC1 Nonsynonymous SNV S83R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 320615 chr1 36439027 36439027 C T rs147480778 AGO3 Synonymous SNV H191H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 320616 chr6 82924112 82924112 T C IBTK Nonsynonymous SNV Q679R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.185 320617 chr1 3712905 3712905 G C rs769345454 LRRC47 Nonsynonymous SNV L46V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.126 320618 chr9 114132881 114132881 T C rs538430585 ECPAS Nonsynonymous SNV N1603S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.005 320619 chr9 114170895 114170895 G A rs368736028 ECPAS Nonsynonymous SNV P870S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 320620 chr9 114170916 114170916 G T rs374647460 ECPAS Nonsynonymous SNV P863T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 320621 chr1 39305335 39305335 G T rs370745456 RRAGC Nonsynonymous SNV H330N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.97 320622 chr8 120575143 120575143 G T rs759533428 ENPP2 Nonsynonymous SNV S792Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 320623 chr1 9323958 9323958 G A rs113495544 H6PD Nonsynonymous SNV R480Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.54 320624 chr10 129905947 129905947 C T rs749971455 MKI67 Nonsynonymous SNV S1026N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.905 320625 chr9 117130871 117130871 T C AKNA Nonsynonymous SNV N355S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.712 320626 chr8 133153552 133153552 A G KCNQ3 Nonsynonymous SNV V310A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 320627 chr8 133856451 133856451 C T rs145396383 PHF20L1 Synonymous SNV T907T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 320628 chr1 44084389 44084389 C G PTPRF Nonsynonymous SNV T1183R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 320629 chr1 44084408 44084408 C T rs143432068 PTPRF Synonymous SNV F1189F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 320630 chr9 124535253 124535253 G A rs34458419 DAB2IP Nonsynonymous SNV A692T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.01 320631 chr8 134058823 134058823 C G rs952141707 MIR7848 0 0 0.003 0 0 0 0 1 0 0 0 0 0.609 320632 chr8 139768055 139768055 C T rs757404674 COL22A1 Synonymous SNV A640A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 320633 chr8 141407723 141407723 C T TRAPPC9 Nonsynonymous SNV R368Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 320634 chr1 45811084 45811087 CACT - rs980693035 TESK2 V299Wfs*104 0.001 0 0 0 1 0 0 0 0 0 0 0 320635 chr7 100551548 100551548 C A rs374517359 MUC3A Nonsynonymous SNV T710N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 320636 chr20 18453554 18453554 G T rs764433900 POLR3F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 320637 chr8 144358787 144358787 G T GLI4 Nonsynonymous SNV R315L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 320638 chr8 144358788 144358788 C T GLI4 Synonymous SNV R315R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 320639 chr1 54618543 54618543 G A rs200632030 CDCP2 Nonsynonymous SNV P18L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.396 320640 chr9 131591019 131591019 T A SPOUT1 Nonsynonymous SNV D68V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.51 320641 chr8 145007241 145007241 G T PLEC Nonsynonymous SNV T472N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 320642 chr1 6640675 6640675 C T rs146128087 ZBTB48 Synonymous SNV D2D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 320643 chr7 121653774 121653774 C G rs752889735 PTPRZ1 Nonsynonymous SNV S1558R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 320644 chr1 70504555 70504555 C T rs138318831 LRRC7 Synonymous SNV H1017H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.965 320645 chr1 10394587 10394587 T G rs749154726 KIF1B Synonymous SNV V932V 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.26 320646 chr9 139115925 139115925 G A rs369929602 QSOX2 Nonsynonymous SNV T171M 0 0.003 0 0 0 1 0 0 0 0 0 0 12.58 320647 chr7 134819945 134819945 A G rs749105407 AGBL3 Nonsynonymous SNV K340E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 320648 chr9 139873696 139873696 A G PTGDS Synonymous SNV R92R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.747 320649 chr9 140123292 140123292 C T rs934251591 RNF224 Synonymous SNV P75P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.08 320650 chr20 48522221 48522221 T C SPATA2 Nonsynonymous SNV K500E 0.001 0 0 0 1 0 0 0 0 0 0 0 17 320651 chr8 24184139 24184139 C T rs146245084 ADAM28 Synonymous SNV G321G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 320652 chr7 142481130 142481130 C T PRSS3P2 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 320653 chr20 49218876 49218876 T C RIPOR3 Synonymous SNV G464G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 320654 chr20 50407655 50407655 G A SALL4 Nonsynonymous SNV P456L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 320655 chr7 149513503 149513503 C T rs764909972 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 320656 chr7 149561364 149561364 G C rs771747918 ZNF862 Synonymous SNV G1167G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.312 320657 chr20 5923132 5923132 G A TRMT6 Nonsynonymous SNV T153I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 320658 chr1 99150605 99150605 G C rs138647550 SNX7 Synonymous SNV T115T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.843 320659 chr1 1396202 1396202 G A rs754602506 ATAD3C Nonsynonymous SNV M295I 0 0.003 0 0 0 1 0 0 0 0 0 0 6.245 320660 chr8 56367739 56367739 G C rs545761160 SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.984 320661 chr8 62626841 62626841 G A rs1008080001 ASPH Synonymous SNV P30P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 320662 chr7 157202499 157202499 C G rs568383912 DNAJB6 Nonsynonymous SNV D119E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 320663 chr1 150636201 150636201 G A GOLPH3L Synonymous SNV G74G 0 0.003 0 0 0 1 0 0 0 0 0 0 3.818 320664 chr20 62194946 62194946 G A rs761712528 HELZ2 Synonymous SNV F1174F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.476 320665 chr8 71082440 71082440 T C rs375385087 NCOA2 Nonsynonymous SNV I26V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 320666 chr8 77616519 77616519 G A rs56261025 ZFHX4 Nonsynonymous SNV V66I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.266 320667 chr20 2411091 2411091 G C TGM6 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 320668 chr10 28824560 28824560 G A rs140756591 WAC Nonsynonymous SNV G50R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.44 320669 chr8 86250652 86250652 G A rs775760764 CA1 Nonsynonymous SNV P22S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 320670 chr10 45877958 45877958 G A rs369176350 ALOX5 Nonsynonymous SNV E60K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 320671 chr10 45958872 45958872 C T MARCHF8 Nonsynonymous SNV S272N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.37 320672 chr8 99468135 99468135 T C rs779061311 STK3 Nonsynonymous SNV T360A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 320673 chr20 36393611 36393611 G A rs758269905 CTNNBL1 Nonsynonymous SNV V193M 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 320674 chr7 42006185 42006185 C A rs758458885 GLI3 Nonsynonymous SNV G829V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 320675 chr10 55955543 55955543 C G rs145017164 PCDH15 Nonsynonymous SNV G365A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.1 320676 chr20 3739282 3739282 G A rs148614096 C20orf27 Synonymous SNV H46H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.26 320677 chr11 13393867 13393867 A T rs780425778 ARNTL Synonymous SNV P313P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.751 320678 chr9 113151865 113151865 C T SVEP1 Synonymous SNV G3275G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 320679 chr20 42826365 42826365 G A OSER1 Nonsynonymous SNV S69F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 320680 chr7 6193590 6193590 C T rs202078216 USP42 Nonsynonymous SNV P802L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 320681 chr7 63982160 63982160 A - rs748341409 ZNF680 C324Wfs*74 0 0 0.003 0 0 0 0 1 0 0 0 0 320682 chr11 46401469 46401469 A G rs147877589 DGKZ Nonsynonymous SNV Q898R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 320683 chr20 60737895 60737895 C T rs140015301 SS18L1 Nonsynonymous SNV A155V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 320684 chr9 130677112 130677112 G A rs57656987 ST6GALNAC4 Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 320685 chr1 17555288 17555288 - G rs34799498 PADI1 Frameshift insertion T276Dfs*29 0 0.003 0 0 0 1 0 0 0 0 0 0 320686 chr10 93390068 93390068 - A PPP1R3C Frameshift insertion D191Rfs*8 0 0.003 0 0 0 1 0 0 0 0 0 0 320687 chr10 95552654 95552654 G A rs772228851 LGI1 Nonsynonymous SNV D172N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.7 320688 chr7 98554070 98554070 G A rs142594775 TRRAP Nonsynonymous SNV V2024I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21 320689 chr22 25566860 25566860 G T rs558905749 KIAA1671 Nonsynonymous SNV G1535V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 320690 chr10 97515535 97515535 C T rs375764499 ENTPD1-AS1 0 0.003 0.007 0 0 1 0 2 0 0 0 0 6.539 320691 chr10 97684548 97684548 G A rs777220178 CC2D2B Nonsynonymous SNV E63K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 320692 chr8 10470098 10470098 C G RP1L1 Nonsynonymous SNV G504R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 320693 chr8 110454321 110454321 G A rs776923220 PKHD1L1 Synonymous SNV P1430P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.513 320694 chr9 139286424 139286424 C T rs144513227 SNAPC4 Synonymous SNV L315L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 320695 chr21 33976547 33976547 T C rs140727644 C21orf59-TCP10L, CFAP298 Nonsynonymous SNV D42G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 320696 chr22 35782756 35782756 G A rs138680581 HMOX1 Nonsynonymous SNV A75T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.711 320697 chr9 139864369 139864369 C T LINC02692 0 0 0.003 0 0 0 0 1 0 0 0 0 0.581 320698 chr9 20786994 20786994 G C rs10511686 SNORA30B 0 0 0.01 0 0 0 0 3 0 0 1 0 0.584 320699 chr22 42609233 42609233 C T rs369985661 TCF20 Synonymous SNV T693T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.073 320700 chr11 56510791 56510791 C T rs371144432 OR9G4 Nonsynonymous SNV G166E 0 0 0 1 0 0 0.003 0 0 0 0 0 19.22 320701 chr9 32784245 32784245 G A TMEM215 Nonsynonymous SNV V22I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 320702 chr11 57177536 57177536 G A rs371535880 SLC43A3 Synonymous SNV S373S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.86 320703 chr10 126715364 126715364 G C CTBP2 Nonsynonymous SNV A322G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 320704 chr22 46785277 46785277 C T rs778260584 CELSR1 Synonymous SNV T2155T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 320705 chr8 145094949 145094949 G A rs782196239 SPATC1 Synonymous SNV L117L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.164 320706 chr9 72067176 72067176 C T rs867659855 APBA1 Synonymous SNV V610V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 320707 chr1 216173861 216173861 G A rs111033472 USH2A Synonymous SNV C2123C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.879 320708 chr10 134999949 134999949 A T KNDC1 Nonsynonymous SNV E366V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 320709 chr8 145166573 145166573 G A WDR97 Synonymous SNV Q842Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.028 320710 chr10 135044593 135044593 G A rs758066126 UTF1 Nonsynonymous SNV A225T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.06 320711 chr1 220971349 220971349 A G rs144239231 MTARC1 Nonsynonymous SNV Y249C 0 0.003 0 0 0 1 0 0 0 0 0 0 18.62 320712 chr22 30070923 30070923 C T rs145666157 NF2 Nonsynonymous SNV T397M 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 320713 chr2 113943689 113943689 G A rs113166680 PSD4 Synonymous SNV T495T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 320714 chrM 1711 1711 G A RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 320715 chrUn_gl000220 122142 122162 TCCTCCTCCTCCTCCTCCTCC - LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 320716 chrUn_gl000220 122810 122810 G A LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 320717 chr22 30975292 30975292 T C PES1 0.001 0 0 0 1 0 0 0 0 0 0 0 17.49 320718 chr22 31656063 31656066 AGTA - rs775874366 LIMK2 E163Gfs*51 0.001 0 0 0 1 0 0 0 0 0 0 0 320719 chr8 27468175 27468175 C G rs560119943 MIR6843 0 0 0.003 0 0 0 0 1 0 0 0 0 2.38 320720 chr2 131674324 131674324 A G ARHGEF4 Synonymous SNV P935P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.999 320721 chr1 232943746 232943746 G T rs200332587 MAP10 Nonsynonymous SNV V993L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 320722 chr1 33133962 33133962 T C rs149278956 RBBP4 Synonymous SNV V148V 0.002 0 0 0 2 0 0 0 0 0 0 0 6.697 320723 chr8 37699598 37699598 C T ADGRA2 Nonsynonymous SNV P1248S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 320724 chr8 37720486 37720486 A G rs151011205 RAB11FIP1 Nonsynonymous SNV V626A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 320725 chr1 33777777 33777777 C T rs377752904 A3GALT2 Nonsynonymous SNV V71I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.9 320726 chr1 235505467 235505467 G C GGPS1 Nonsynonymous SNV V41L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.497 320727 chr2 145157704 145157704 C T rs532720008 ZEB2 Synonymous SNV T326T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.86 320728 chr8 41551468 41551468 C G rs750243858 ANK1 Nonsynonymous SNV R1160S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 320729 chr2 15743954 15743954 A G rs779962064 DDX1 Synonymous SNV G164G 0.002 0 0 0 2 0 0 0 0 0 0 0 10.19 320730 chrX 41075537 41075537 C T USP9X Nonsynonymous SNV T1906I 0 0 0.007 0 0 0 0 2 0 0 1 0 28.9 320731 chrX 41075592 41075592 G C USP9X Nonsynonymous SNV E1924D 0 0 0.007 0 0 0 0 2 0 0 1 0 20.2 320732 chr22 41545162 41545162 C G EP300 Nonsynonymous SNV Q762E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 320733 chr2 163082056 163082056 G A FAP Synonymous SNV N74N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.667 320734 chr1 24669481 24669481 A G rs143169996 GRHL3 Nonsynonymous SNV N416S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.92 320735 chr8 72965891 72965891 C G MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.279 320736 chr8 8176518 8176518 G C rs376844217 PRAG1 Nonsynonymous SNV L1123V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 320737 chr11 3140843 3140843 C T rs539611416 OSBPL5 Nonsynonymous SNV V141M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 320738 chrX 73041189 73041189 - AAG rs770198940 TSIX, XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 320739 chr22 44527382 44527382 G A rs975226810 PARVB Nonsynonymous SNV C94Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 320740 chr11 4471148 4471148 C G rs146528747 OR52K2 Nonsynonymous SNV D193E 0 0.005 0 0 0 2 0 0 0 0 0 0 22.3 320741 chr11 4615784 4615784 C T rs765144421 OR52I1 Synonymous SNV F172F 0 0.003 0 0 0 1 0 0 0 0 0 0 12.01 320742 chr8 95800143 95800143 C T rs199952345 DPY19L4 Stop gain R624X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 320743 chr11 4903474 4903474 G A rs765974897 OR51T1 Synonymous SNV S115S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.369 320744 chr9 100116971 100116971 G T rs200368278 CCDC180 Nonsynonymous SNV K1085N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 320745 chr10 102269173 102269173 T C rs7074707 SEC31B Nonsynonymous SNV Y100C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 320746 chr10 102307858 102307858 C T rs115977073 HIF1AN Synonymous SNV P338P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 320747 chr10 102307870 102307870 A G rs116336193 HIF1AN Synonymous SNV T342T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.707 320748 chr10 102684454 102684454 A G rs34653806 SLF2 Nonsynonymous SNV I566V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320749 chr10 102740612 102740612 A G rs113498503 SEMA4G Nonsynonymous SNV I501V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.294 320750 chr10 102744264 102744264 C T rs140873008 SEMA4G Nonsynonymous SNV H575Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 320751 chr10 102987191 102987191 C G rs778272282 LBX1 Nonsynonymous SNV A228P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 320752 chr2 17692189 17692189 C T rs183882477 RAD51AP2 Nonsynonymous SNV R1121Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 22.1 320753 chr10 103825761 103825761 G A rs373522289 HPS6 Nonsynonymous SNV S177N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320754 chr10 104160482 104160482 G A rs138786808 NFKB2 Synonymous SNV G623G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.13 320755 chr10 104572682 104572682 C T rs146098584 WBP1L Nonsynonymous SNV P229L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.03 320756 chr1 26349807 26349807 G A rs373052343 EXTL1 Nonsynonymous SNV V224I 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 320757 chr1 26511594 26511594 C T CNKSR1 Nonsynonymous SNV P416S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 320758 chr9 106880560 106880560 G C rs756686738 SMC2 Nonsynonymous SNV D634H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 320759 chr2 179444367 179444367 A G rs770566672 TTN Synonymous SNV Y13454Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.112 320760 chr2 179444368 179444368 - GTG rs752346827 TTN Y13454delinsSH 0.001 0 0 0 1 0 0 0 0 0 0 0 320761 chr2 179444369 179444369 A C rs779007987 TTN Nonsynonymous SNV Y13454D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 320762 chr10 105821213 105821213 T A rs143083196 COL17A1 Nonsynonymous SNV N310I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 320763 chr11 5411197 5411197 T A rs369196155 OR51M1 Nonsynonymous SNV F190Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.634 320764 chr10 108412218 108412218 C T rs139207729 SORCS1 Synonymous SNV G799G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.27 320765 chr10 111674806 111674806 G C rs713545 XPNPEP1 Nonsynonymous SNV N28K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 320766 chr10 112769023 112769023 C T rs146147503 SHOC2 Synonymous SNV N388N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.68 320767 chr10 112838006 112838006 C T rs33944494 ADRA2A Synonymous SNV N84N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.094 320768 chr10 115336982 115336982 C A rs7086714 HABP2 Synonymous SNV R109R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.14 320769 chr1 29185639 29185639 C T OPRD1 Nonsynonymous SNV T134I 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 320770 chr10 115364606 115364606 C T rs189607000 NRAP Nonsynonymous SNV R1294Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 320771 chr10 115904313 115904313 G A rs116220761 CCDC186 Synonymous SNV H388H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 320772 chr1 33772719 33772719 T G A3GALT2 Nonsynonymous SNV H224P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 320773 chr11 113076356 113076356 A G NCAM1 Nonsynonymous SNV H153R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 320774 chr2 109086830 109086830 A G GCC2 Nonsynonymous SNV S349G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 320775 chr2 113080226 113080226 G A ZC3H6 Nonsynonymous SNV V363M 0.001 0 0 0 1 0 0 0 0 0 0 0 24 320776 chr9 119160914 119160914 C T PAPPA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 320777 chr2 112843603 112843603 C T rs758512878 TMEM87B Nonsynonymous SNV A287V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 320778 chr10 123687886 123687886 A G rs542745946 ATE1 Nonsynonymous SNV S21P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 320779 chr10 123845937 123845937 C A rs77722854 TACC2 Nonsynonymous SNV Q1308K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.574 320780 chr11 6578170 6578170 C T rs753030219 DNHD1 Nonsynonymous SNV R2549C 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 320781 chr1 39917872 39917872 C T rs143354848 MACF1 Synonymous SNV V4762V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.53 320782 chr10 124909482 124909482 C G rs145218772 HMX2 Nonsynonymous SNV A222G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 320783 chr9 125487017 125487017 T C rs773750205 OR1L4 Nonsynonymous SNV V250A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320784 chr10 125780753 125780753 G C rs550185991 CHST15 Nonsynonymous SNV R456G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 320785 chr10 125798108 125798108 C T rs148665029 CHST15 Synonymous SNV P371P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.98 320786 chr10 125804262 125804262 C T rs61740033 CHST15 Synonymous SNV L240L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 320787 chr10 126138473 126138473 A G rs200986576 NKX1-2 Nonsynonymous SNV S14P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 320788 chr2 119915675 119915675 G T rs564432703 C1QL2 Synonymous SNV A57A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.304 320789 chr2 119915750 119915750 G T rs113019193 C1QL2 Synonymous SNV I32I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.152 320790 chr11 119044712 119044712 C T rs145644388 NLRX1 Nonsynonymous SNV R252W 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 320791 chr11 119180610 119180610 C A rs139488333 MCAM Nonsynonymous SNV D643Y 0 0 0 1 0 0 0.003 0 0 0 0 0 34 320792 chr11 119182767 119182769 CTC - rs571690892 MCAM R379_E380delinsK 0 0 0 1 0 0 0.003 0 0 0 0 0 320793 chr10 128973999 128973999 C T rs142627987 INSYN2A Nonsynonymous SNV D221N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.378 320794 chr11 7110807 7110807 G A RBMXL2 Synonymous SNV P152P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.314 320795 chr10 129237488 129237488 C T rs34175019 DOCK1 Nonsynonymous SNV T1753M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 320796 chr10 129676520 129676520 T C rs34656572 CLRN3 Nonsynonymous SNV I192V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320797 chr11 120187972 120187972 G A rs139827446 POU2F3 Synonymous SNV R392R 0 0 0.007 1 0 0 0.003 2 0 0 0 0 14.84 320798 chr10 129868681 129868681 C T rs138653229 PTPRE Synonymous SNV H200H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.327 320799 chr10 129903153 129903153 A G rs144470824 MKI67 Synonymous SNV A1957A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.094 320800 chr10 129903320 129903320 C A rs142704294 MKI67 Nonsynonymous SNV V1902L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.167 320801 chr10 129903891 129903891 T C rs61729184 MKI67 Synonymous SNV Q1711Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.194 320802 chr10 129903915 129903915 T C rs61729187 MKI67 Synonymous SNV P1703P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.29 320803 chr10 129904516 129904516 T A rs35245002 MKI67 Nonsynonymous SNV Q1503L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.888 320804 chr10 129907167 129907167 C T rs34174074 MKI67 Synonymous SNV T619T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.02 320805 chr1 45225000 45225000 C T KIF2C Synonymous SNV I408I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.62 320806 chr10 133962970 133962970 G A rs201739314 JAKMIP3 Nonsynonymous SNV G561R 0 0 0.003 0 0 0 0 1 0 0 0 0 31 320807 chr1 46494482 46494482 C T rs749580795 MAST2 Nonsynonymous SNV R699C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 320808 chr9 130634172 130634172 T C rs147616730 AK1 Nonsynonymous SNV N101S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.268 320809 chr11 8752074 8752074 G A rs777038380 DENND2B Nonsynonymous SNV R255W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 320810 chr10 134743284 134743284 C A rs114232252 CFAP46 Synonymous SNV A297A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 320811 chr10 13481466 13481466 C T rs76298779 BEND7 Synonymous SNV P371P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 320812 chr10 134912226 134912226 G A rs114458014 ADGRA1 Nonsynonymous SNV G72S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 22 320813 chr2 210783351 210783351 C T rs142772403 UNC80 Synonymous SNV S1703S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 17.28 320814 chr2 136396317 136396317 A G R3HDM1 Nonsynonymous SNV D261G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 320815 chr2 211456675 211456675 C G rs34022862 CPS1 Synonymous SNV V356V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 11.22 320816 chr2 211473157 211473157 C T rs41272667 CPS1 Synonymous SNV S755S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 9.584 320817 chr2 211476843 211476843 C A rs35678745 CPS1 Synonymous SNV V798V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign/Likely benign 15.6 320818 chr2 211476929 211476929 T C CPS1 Nonsynonymous SNV L827P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 320819 chr11 11976647 11976647 A G USP47 Nonsynonymous SNV K1103E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 320820 chr10 15008508 15008508 C G rs61730296 MEIG1 Nonsynonymous SNV A14G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 320821 chr2 150294230 150294230 C T rs139673925 LYPD6 Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 320822 chr11 17631724 17631724 G A OTOG Nonsynonymous SNV G1638D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.31 320823 chr1 92184966 92184966 T C rs138396794 TGFBR3 Nonsynonymous SNV K489R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.615 320824 chr10 21806020 21806020 G T rs865859755 SKIDA1 Synonymous SNV A244A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.199 320825 chr10 22726397 22726397 C T rs12268450 LOC100499489 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 320826 chr10 23326302 23326302 T C rs60713513 ARMC3 Nonsynonymous SNV I575T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 320827 chr2 15359024 15359024 G T NBAS Nonsynonymous SNV P2102Q 0.001 0 0 1 1 0 0.003 0 0 0 0 0 32 320828 chr1 92946454 92946454 G A GFI1 Nonsynonymous SNV P164S 0.002 0 0 0 2 0 0 0 0 0 0 0 24.1 320829 chr9 136308682 136308682 G C ADAMTS13 Nonsynonymous SNV R807T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 320830 chr2 160806233 160806238 TCCAAA - rs760169392 PLA2R1 Stop gain F1197_K1324del 0.001 0 0 0 1 0 0 0 0 0 0 0 320831 chr1 94517254 94517254 C G rs76157638 ABCA4 Nonsynonymous SNV G863A 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.7 320832 chr9 138590193 138590193 G A SOHLH1 Synonymous SNV P109P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 320833 chr9 139301971 139301971 G A rs201579939 ENTR1 Nonsynonymous SNV P76S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 320834 chr11 30902790 30902790 A G rs760264720 DCDC1 Synonymous SNV S820S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.091 320835 chr1 65305287 65305287 G A rs200375330 JAK1 Synonymous SNV D947D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.518 320836 chr10 32582006 32582006 T A rs76164400 EPC1 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 320837 chr10 34606124 34606124 A G rs144317328 PARD3 Synonymous SNV T920T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.307 320838 chr10 410502 410502 G A rs150865634 DIP2C Synonymous SNV S763S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.645 320839 chr10 46966832 46966832 G A rs567592832 LOC101927699, LOC102724593 0 0 0.003 0 0 0 0 1 0 0 0 0 5.299 320840 chr2 227966258 227966258 C T rs781202513 COL4A4 Nonsynonymous SNV V331I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.47 320841 chr10 46999628 46999628 C T rs115992715 GPRIN2 Synonymous SNV L250L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.571 320842 chr2 173330388 173330388 G A rs753805092 ITGA6 Nonsynonymous SNV D102N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 320843 chr10 47000177 47000177 C T rs561058711 GPRIN2 Nonsynonymous SNV R433W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 320844 chr2 230875544 230875544 C T rs139190280 FBXO36 Nonsynonymous SNV R171W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 320845 chr10 50167787 50167787 G A rs61733226 WDFY4 Nonsynonymous SNV V2718M 0 0 0.007 0 0 0 0 2 0 0 1 0 21.9 320846 chr10 50532667 50532667 T C C10orf71 Synonymous SNV L693L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.572 320847 chr11 46914637 46914637 G A rs574108233 LRP4 Synonymous SNV T528T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 12.76 320848 chr1 7997785 7997785 G A rs765656918 TNFRSF9 Synonymous SNV N126N 0 0.003 0 0 0 1 0 0 0 0 0 0 4.965 320849 chr2 233391327 233391327 C A CHRND Nonsynonymous SNV H47Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.228 320850 chr2 234707477 234707477 T A rs186122485 MROH2A Nonsynonymous SNV I437N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 320851 chr10 5498555 5498555 A G rs78693452 NET1 Synonymous SNV K409K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.014 320852 chr10 55581936 55581936 G T rs112097891 PCDH15 Synonymous SNV T1810T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.412 320853 chr9 32543801 32543801 G A rs41272913 TOPORS Nonsynonymous SNV T176M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23 320854 chr12 7883436 7883436 G - rs778910768 CLEC4C H152Ifs*31 0 0 0 1 0 0 0.003 0 0 0 0 0 320855 chr12 7922608 7922608 T C rs781482439 NANOGNB Synonymous SNV D44D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 320856 chr10 61029832 61029832 G A rs150637641 FAM13C Synonymous SNV A210A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.122 320857 chr12 9020594 9020594 C T A2ML1 Nonsynonymous SNV P801S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 320858 chr10 63999516 63999516 G A rs777489242 RTKN2 Nonsynonymous SNV R127C 0 0 0.003 0 0 0 0 1 0 0 0 0 23 320859 chr10 70332591 70332591 C T rs115711488 TET1 Nonsynonymous SNV L166F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.506 320860 chr10 70645258 70645258 C A rs16925882 STOX1 Nonsynonymous SNV P569H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.749 320861 chr10 70670876 70670876 A G rs113058356 DDX50 Synonymous SNV V171V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 320862 chr10 70748617 70748617 G T rs553587755 KIF1BP Nonsynonymous SNV C10F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 320863 chr10 70775695 70775695 A C rs114205227 KIF1BP Synonymous SNV P463P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.015 320864 chr2 241874423 241874423 G A rs568734799 CROCC2 Nonsynonymous SNV A628T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.077 320865 chr20 3804572 3804572 G A rs138798757 AP5S1 Nonsynonymous SNV M77I 0.002 0 0 1 2 0 0.003 0 0 0 0 0 11.2 320866 chr10 73466774 73466774 G A rs143179070 CDH23 Nonsynonymous SNV G1025D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 31 320867 chr2 242155516 242155516 A T ANO7 Nonsynonymous SNV K612M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 320868 chr9 79117597 79117599 TTC - rs762537725 GCNT1 S102del 0 0 0.003 0 0 0 0 1 0 0 0 0 320869 chr10 75550790 75550790 A G rs191803425 ZSWIM8 Synonymous SNV A333A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.597 320870 chr10 75552397 75552397 C T rs144000079 ZSWIM8 Synonymous SNV D700D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 320871 chr10 75576499 75576499 A G rs146637926 CAMK2G Nonsynonymous SNV Y409H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.535 320872 chr20 10385906 10385906 C G rs886056497 MKKS Nonsynonymous SNV D568H 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 320873 chr10 75843194 75843194 C A rs61731180 VCL Synonymous SNV G315G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.79 320874 chr10 76797632 76797632 G A rs139930647 DUPD1 Nonsynonymous SNV R209C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.296 320875 chr12 16189666 16189666 C G DERA Nonsynonymous SNV L272V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 320876 chr10 81063914 81063914 C T rs116799693 ZMIZ1 Synonymous SNV H756H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.2 320877 chr10 81113535 81113535 C T rs2230224 PPIF Synonymous SNV F187F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.62 320878 chr10 81371607 81371607 A C rs139899873 SFTPA1 Nonsynonymous SNV N9T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 320879 chrM 2703 2703 G A RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 320880 chr12 26348854 26348854 C A SSPN Synonymous SNV V83V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 320881 chr10 88220198 88220198 G A rs3858276 WAPL Synonymous SNV A840A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 320882 chr2 32613970 32613970 A G BIRC6 Synonymous SNV A266A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.573 320883 chr10 92678914 92678914 C A rs114435632 ANKRD1 Nonsynonymous SNV V107L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.812 320884 chr12 30784840 30784840 C T rs144603566 IPO8 Nonsynonymous SNV R797Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 320885 chr2 3517701 3517701 C T rs774498045 ADI1 Nonsynonymous SNV R50Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 320886 chrX 123838915 123838915 C T rs760370591 TENM1 Synonymous SNV L321L 0 0 0.007 0 0 0 0 2 0 0 1 0 12.35 320887 chr10 94825718 94825718 G T rs115738184 CYP26C1 Synonymous SNV S289S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.21 320888 chr10 94834638 94834638 C A rs61735552 CYP26A1 Nonsynonymous SNV R173S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 320889 chrX 129184702 129184702 G A rs35736519 BCORL1 Synonymous SNV S1543S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 13.84 320890 chr10 96271381 96271381 A G rs147238542 TBC1D12 Synonymous SNV A577A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 320891 chr10 96447981 96447981 G A rs115091705 CYP2C18 Nonsynonymous SNV R144H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 320892 chr10 96741058 96741058 C G rs28371686 CYP2C9 Nonsynonymous SNV D360E 0 0 0.003 0 0 0 0 1 0 0 0 0 drug response 23.5 320893 chr2 36706833 36706833 C T rs202040233 CRIM1 Synonymous SNV C456C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 320894 chr10 97987265 97987265 C T rs144903484 BLNK Nonsynonymous SNV A88T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 320895 chr10 97990559 97990559 G A rs12261820 BLNK Synonymous SNV S65S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 10.45 320896 chr10 98510215 98510215 C T rs150269883 RPL13AP5 0 0 0.003 0 0 0 0 1 0 0 0 0 6.15 320897 chr10 98823963 98823963 G T rs116469159 SLIT1 Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.98 320898 chr10 99130311 99130311 G A rs61731890 RRP12 Synonymous SNV L764L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.9 320899 chrX 153069708 153069708 G A rs138846842 PDZD4 Synonymous SNV A361A 0 0 0.007 0 0 0 0 2 0 0 1 0 5.227 320900 chr2 39405846 39405846 C G rs779299787 CDKL4 Nonsynonymous SNV V328L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.563 320901 chr2 42180223 42180223 T A rs917512174 C2orf91 0.001 0 0 0 1 0 0 0 0 0 0 0 4.797 320902 chr2 219206307 219206307 G A rs777805823 PNKD Nonsynonymous SNV R168Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 320903 chr20 3194024 3194024 C T rs201119006 ITPA Nonsynonymous SNV R62C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25 320904 chrX 153247545 153247545 - CGTGGC rs781986712 TMEM187 A15_G16insVA 0 0 0.007 0 0 0 0 2 0 0 1 0 320905 chr20 32267617 32267617 G A rs139667011 E2F1 Synonymous SNV N172N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 11.88 320906 chr20 33517271 33517271 G A rs767231017 GSS Nonsynonymous SNV R412W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 34 320907 chr12 49431760 49431760 G A rs748336297 KMT2D Nonsynonymous SNV R3127C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 320908 chr20 33588470 33588470 G A rs546905466 MYH7B Nonsynonymous SNV R1761H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 33 320909 chr2 48132691 48132696 GCTGCT - FBXO11 Q55_Q56del 0.001 0 0 0 1 0 0 0 0 0 0 0 320910 chr20 37580477 37580477 C T rs199850639 FAM83D Nonsynonymous SNV R358C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 8.907 320911 chr2 55118288 55118288 G A rs200130756 EML6 Nonsynonymous SNV A846T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 320912 chr20 398206 398206 C T rs189407509 RBCK1 Synonymous SNV T26T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Likely benign 12.76 320913 chr11 1029114 1029114 C G rs199576097 MUC6 Nonsynonymous SNV V438L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.408 320914 chr11 104757998 104757998 A G rs142269030 CASP12 Synonymous SNV S284S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 320915 chr2 233527540 233527540 G A EFHD1 Nonsynonymous SNV D15N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 320916 chr11 104819333 104819333 C A rs55901059 CASP4 Nonsynonymous SNV E284D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.515 320917 chr11 104871193 104871193 A G rs45501691 CASP5 Synonymous SNV A107A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.656 320918 chr11 107375799 107375799 T C rs199521158 ALKBH8 Nonsynonymous SNV K530R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.206 320919 chr11 62285642 62285642 G A rs116181632 AHNAK Nonsynonymous SNV P5416L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 320920 chr11 107427713 107427713 T C rs116578571 ALKBH8 Nonsynonymous SNV N52S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 320921 chr12 53204595 53204595 T C KRT4 Nonsynonymous SNV E228G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 320922 chr10 100167695 100167695 G A rs149248307 PYROXD2 Synonymous SNV I69I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 320923 chr10 102763750 102763750 C T rs2275381 LZTS2 Nonsynonymous SNV R299W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 320924 chr11 64001570 64001570 G A rs758153310 DNAJC4 Nonsynonymous SNV E214K 0 0.003 0 0 0 1 0 0 0 0 0 0 13.85 320925 chr11 64009946 64009946 G A FKBP2 Synonymous SNV R29R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.52 320926 chr2 234371092 234371092 C A rs767208790 DGKD Nonsynonymous SNV P983H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 320927 chr10 103909728 103909728 T A PPRC1 Nonsynonymous SNV F1382Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 320928 chr20 50721703 50721703 G A rs376649924 ZFP64 Nonsynonymous SNV A25V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.25 320929 chr11 114182782 114182782 G C rs142472969 NNMT Nonsynonymous SNV E126D 0 0 0.003 0 0 0 0 1 0 0 0 0 24 320930 chr11 114393757 114393757 C T rs79538449 NXPE1 Nonsynonymous SNV G176S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.8 320931 chr11 64514160 64514160 G C PYGM Nonsynonymous SNV R746G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 320932 chr11 64567147 64567147 G A rs780821707 MAP4K2 Synonymous SNV D308D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.63 320933 chr11 117050007 117050007 G A rs61729992 SIDT2 Nonsynonymous SNV V10M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.42 320934 chr11 117062989 117062989 C T rs12285035 SIDT2 Nonsynonymous SNV T631M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.8 320935 chr10 108339209 108339209 T C rs187136160 SORCS1 Nonsynonymous SNV T1097A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.777 320936 chr2 241706751 241706751 G A rs768926122 KIF1A Synonymous SNV L494L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.43 320937 chr11 117789300 117789314 GCCGGAGATGCCCGG - rs752571647 TMPRSS13 R88_A92del 0 0 0.003 0 0 0 0 1 0 0 0 0 320938 chr11 118219750 118219750 G A rs139781104 CD3G Nonsynonymous SNV A22T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12 320939 chr11 118526343 118526343 C T rs147860570 PHLDB1 Synonymous SNV V1254V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 320940 chr20 60891020 60891020 C T rs367809230 LAMA5 Nonsynonymous SNV M2617I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 320941 chr10 115804705 115804705 - CGCCCT rs762200213 ADRB1 P279_V280insSP 0 0 0.003 0 0 0 0 1 0 0 0 0 320942 chr11 118969130 118969130 T C DPAGT1 Synonymous SNV G237G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 320943 chr11 119027142 119027142 C T rs374389742 ABCG4 Nonsynonymous SNV L264F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 320944 chr12 57604624 57604624 G A rs764107741 LRP1 Nonsynonymous SNV R4293Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 320945 chr11 119170480 119170480 G A rs17122769 CBL Nonsynonymous SNV V904I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.79 320946 chr2 26532941 26532941 G A rs371430840 ADGRF3 Synonymous SNV R838R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.397 320947 chr10 118220572 118220572 T A rs774605588 PNLIPRP3 Nonsynonymous SNV N220K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 320948 chr11 11986027 11986027 C T rs147121113 DKK3 Nonsynonymous SNV G346E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.031 320949 chr11 66260611 66260611 G A rs201801229 DPP3 Synonymous SNV T389T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.7 320950 chr12 58197421 58197421 T C rs774802127 AVIL Nonsynonymous SNV K568R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 320951 chr11 120998520 120998520 G A rs143730090 TECTA Nonsynonymous SNV D612N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19.99 320952 chr11 67262638 67262638 C G rs780188827 PITPNM1 Synonymous SNV A846A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.42 320953 chr12 68716984 68716984 T C MDM1 Nonsynonymous SNV K179E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 320954 chr10 124359595 124359595 C A rs770281969 DMBT1 Nonsynonymous SNV P600Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.45 320955 chr20 62202196 62202196 C T rs201226366 HELZ2 Nonsynonymous SNV A102T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.965 320956 chr20 62328412 62328412 C T rs759307450 TNFRSF6B Nonsynonymous SNV R98C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 320957 chr20 62330014 62330014 T - rs113684407 RTEL1-TNFRSF6B 0 0.003 0 0 0 1 0 0 0 0 0 0 320958 chr2 31560535 31560535 T C rs762726897 XDH Nonsynonymous SNV N1308S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 320959 chr20 62707963 62707963 T C rs941252147 RGS19 Nonsynonymous SNV M23V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.11 320960 chr11 123909326 123909326 G A rs761120286 OR10G7 Nonsynonymous SNV P128L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 320961 chr11 124016626 124016626 G T rs116379510 VWA5A Nonsynonymous SNV V779L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 320962 chr11 124056084 124056084 C T rs115415865 OR10D3 Synonymous SNV A36A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 320963 chr11 124056453 124056453 G C rs7937661 OR10D3 Nonsynonymous SNV L159F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 320964 chr11 124056582 124056582 C T rs7937603 OR10D3 Synonymous SNV N202N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.447 320965 chr11 124134925 124134925 G A rs62622834 OR8G5 Nonsynonymous SNV G68E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 320966 chr12 80935500 80935500 G C rs914661851 PTPRQ Nonsynonymous SNV E935D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.184 320967 chr11 124440923 124440923 C T rs59034440 OR8A1 Nonsynonymous SNV T303M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 320968 chr11 124626438 124626438 C G rs76226162 ESAM Synonymous SNV L150L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 320969 chr11 74952604 74952604 G T TPBGL Synonymous SNV P170P 0 0.003 0 0 0 1 0 0 0 0 0 0 3.778 320970 chr10 134598588 134598588 G A rs747167400 NKX6-2 Synonymous SNV A222A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 320971 chr11 74952889 74952889 C T rs773607158 TPBGL Synonymous SNV A265A 0 0.003 0 0 0 1 0 0 0 0 0 0 16.74 320972 chr11 75160101 75160101 G T rs751246734 GDPD5 Nonsynonymous SNV T74N 0 0.003 0 0 0 1 0 0 0 0 0 0 17.94 320973 chr12 89997695 89997695 G T ATP2B1 Nonsynonymous SNV P694Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 320974 chr11 125875687 125875687 C A rs147925363 CDON Synonymous SNV L606L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.53 320975 chr10 135278810 135278810 - CT rs754644640 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 320976 chr11 125875902 125875902 C T rs76247998 CDON Nonsynonymous SNV A535T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.094 320977 chr11 78369778 78369778 G A rs533400715 TENM4 Synonymous SNV S2545S 0 0.003 0 0 0 1 0 0 0 0 0 0 4.133 320978 chr11 126075455 126075455 C T rs35176670 RPUSD4 Nonsynonymous SNV R235Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 320979 chr11 126079556 126079556 A G RPUSD4 Synonymous SNV H139H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.04 320980 chr11 126081361 126081361 T C rs35468281 RPUSD4 Nonsynonymous SNV D58G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.286 320981 chr11 126162697 126162697 C T rs142475083 TIRAP Synonymous SNV S131S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.922 320982 chr11 126208188 126208188 A G rs34637393 DCPS Nonsynonymous SNV Y184C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.9 320983 chr11 1263468 1263468 G A rs55942023 MUC5B Synonymous SNV P1786P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.357 320984 chr11 1271741 1271741 C T rs200232123 MUC5B Nonsynonymous SNV T4544M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.769 320985 chr10 17142236 17142236 G C CUBN Synonymous SNV V511V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 320986 chr11 1274097 1274097 G A rs141222463 MUC5B Nonsynonymous SNV R5035H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.726 320987 chr3 124215238 124215238 A G KALRN Nonsynonymous SNV Q1586R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 320988 chr2 55825675 55825675 A C rs187956502 PPP4R3B Synonymous SNV T266T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 320989 chr10 22618419 22618419 A G rs201024480 BMI1, COMMD3-BMI1 Nonsynonymous SNV N310S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 320990 chr11 93797539 93797539 G A rs73551201 HEPHL1 Nonsynonymous SNV R224Q 0 0.003 0 0 0 1 0 0 0 0 0 0 13.91 320991 chr11 130716909 130716909 C G rs115071452 LINC02551 0 0 0.003 0 0 0 0 1 0 0 0 0 4.238 320992 chr10 25312461 25312461 A G rs373760754 THNSL1 Synonymous SNV L103L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.636 320993 chr2 61415900 61415900 A - rs565509446 AHSA2P 0.001 0 0 0 1 0 0 0 0 0 0 0 320994 chr2 62100401 62100401 G A rs200991443 CCT4 Synonymous SNV H285H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.281 320995 chr11 1463795 1463795 G A rs61742447 BRSK2 Synonymous SNV A163A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.3 320996 chr11 14902031 14902031 A G rs111576400 CYP2R1 Synonymous SNV N217N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 320997 chr21 43161318 43161318 G A rs750371364 RIPK4 Nonsynonymous SNV R679C 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 320998 chr11 18735934 18735934 T G rs116550307 IGSF22 Nonsynonymous SNV K563T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 320999 chr11 19735896 19735896 G A rs114126543 LOC100126784 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 321000 chr10 43615544 43615544 T C RET Synonymous SNV L621L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.473 321001 chr11 20104606 20104606 G A rs73429387 NAV2 Synonymous SNV A857A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.04 321002 chr11 111154818 111154818 G A C11orf53 Nonsynonymous SNV G61S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 321003 chr11 111154819 111154819 G T C11orf53 Nonsynonymous SNV G61V 0 0.003 0 0 0 1 0 0 0 0 0 0 29.7 321004 chr11 20178076 20178076 G C rs61732859 DBX1 Nonsynonymous SNV S239C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 321005 chr11 20939755 20939755 T G rs35809043 NELL1 Nonsynonymous SNV F154V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.93 321006 chr11 22647261 22647261 G A rs151253274 FANCF Synonymous SNV R32R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.08 321007 chr11 2434399 2434399 G C rs139148413 TRPM5 Nonsynonymous SNV D687E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.989 321008 chr3 141161971 141161971 C T ZBTB38 Synonymous SNV N247N 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.04 321009 chr11 118779175 118779175 C T BCL9L Synonymous SNV S72S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 321010 chr11 2909757 2909757 C T rs76505120 SLC22A18AS Nonsynonymous SNV G36R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.56 321011 chr11 292887 292887 A G rs142215595 PGGHG Nonsynonymous SNV D387G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 321012 chr11 293212 293212 C T rs775210440 PGGHG Synonymous SNV Y440Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.753 321013 chr11 119045769 119045769 G A rs535927542 NLRX1 Nonsynonymous SNV R486H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.201 321014 chr11 32976929 32976929 G T rs199820872 QSER1 Nonsynonymous SNV G1530C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 321015 chr11 33120260 33120260 T C rs35931906 CSTF3 Synonymous SNV A368A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.509 321016 chr10 5791299 5791299 A G rs200658639 TASOR2 Nonsynonymous SNV Q1891R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 321017 chr11 34378708 34378708 G A rs551119904 ABTB2 Synonymous SNV R141R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 321018 chr10 5963253 5963253 G A rs375405631 FBH1 Synonymous SNV V637V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 321019 chr10 60560724 60560724 C A BICC1 Nonsynonymous SNV Q645K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 321020 chr2 85536317 85536317 C T TCF7L1 Nonsynonymous SNV A500V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 321021 chr2 85536507 85536507 C T rs374034638 TCF7L1 Synonymous SNV P563P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 321022 chr10 65225264 65225264 C T rs758488215 JMJD1C Synonymous SNV P53P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.3 321023 chr10 696141 696141 G A PRR26 Nonsynonymous SNV G31R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.608 321024 chr11 44151625 44151625 G T rs34084767 EXT2 Nonsynonymous SNV M403I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.53 321025 chr11 124765393 124765393 G T ROBO4 Synonymous SNV G187G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.98 321026 chr11 45937310 45937310 G A rs80275010 PEX16 Synonymous SNV A101A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.12 321027 chr11 46388220 46388220 C T rs2087360 DGKZ Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.57 321028 chr11 46391097 46391097 C G rs35267642 DGKZ Synonymous SNV R166R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.03 321029 chr11 46393307 46393307 C T rs111613271 DGKZ Synonymous SNV S248S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.4 321030 chr11 46564091 46564091 C T rs2864836 AMBRA1 Synonymous SNV S492S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.415 321031 chr11 46689353 46689353 T C rs61736849 ATG13 Synonymous SNV S240S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.228 321032 chr11 46726260 46726260 G C rs36017347 ZNF408 Nonsynonymous SNV R329P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.24 321033 chr11 47189728 47189728 C T rs34662994 ARFGAP2 Nonsynonymous SNV R311H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 321034 chr11 47198336 47198336 G A rs755735587 ARFGAP2 Synonymous SNV N23N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 321035 chr11 47202130 47202130 T C rs116698581 PACSIN3 Nonsynonymous SNV E108G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 321036 chr3 100489731 100489731 G A rs760464738 ABI3BP Nonsynonymous SNV R822W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 321037 chr11 47296533 47296533 G A rs61733162 MADD Nonsynonymous SNV R161H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 321038 chr3 112993339 112993339 C A BOC Nonsynonymous SNV P451H 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 321039 chr13 26348995 26348995 C T rs373776679 ATP8A2 Synonymous SNV Y819Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.66 321040 chr22 42608150 42608150 G A rs368350649 TCF20 Synonymous SNV P1054P 0.002 0 0 0 2 0 0 0 0 0 0 0 6.602 321041 chr10 76735758 76735758 G A rs146395020 KAT6B Nonsynonymous SNV G555R 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 23.4 321042 chr12 4488703 4488703 C T rs760118094 FGF23 Nonsynonymous SNV V16I 0 0.003 0 0 0 1 0 0 0 0 0 0 9.861 321043 chr13 38172749 38172749 G C POSTN Nonsynonymous SNV Q39E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.852 321044 chr12 4737023 4737023 T C rs767482374 AKAP3 Nonsynonymous SNV M349V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 321045 chr12 4737404 4737404 C T rs71579261 AKAP3 Nonsynonymous SNV E222K 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 321046 chr12 5744363 5744363 G A rs759111246 ANO2 Synonymous SNV L591L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.93 321047 chr12 5941704 5941704 G A rs61908360 ANO2 Synonymous SNV S234S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.642 321048 chr11 499071 499071 G A rs369312738 RNH1 Synonymous SNV G186G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 321049 chr10 91144379 91144379 G A rs759689718 IFIT1B Nonsynonymous SNV V437M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.23 321050 chr12 6839883 6839883 G A rs148675442 COPS7A Nonsynonymous SNV A229T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.36 321051 chr10 93608316 93608316 T C rs763642041 TNKS2 Synonymous SNV S845S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.77 321052 chr10 93608320 93608320 A G rs761479667 TNKS2 Nonsynonymous SNV S847G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 321053 chr12 6972414 6972414 C T rs35165406 USP5 Synonymous SNV P609P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.13 321054 chr10 96044620 96044620 C G rs375092651 PLCE1 Nonsynonymous SNV L1337V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 321055 chr3 126158558 126158558 C T ZXDC Nonsynonymous SNV G803S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.58 321056 chr3 127391913 127391913 G T ABTB1 Synonymous SNV V15V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 321057 chr10 99025796 99025796 T G rs145373661 ARHGAP19 Nonsynonymous SNV K48T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 321058 chr11 55927350 55927350 T C rs190191707 OR8K5 Synonymous SNV Q148Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 321059 chr12 14948014 14948014 T C WBP11 Nonsynonymous SNV S138G 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 321060 chr12 21196367 21196367 T A rs774577895 SLCO1B7 Nonsynonymous SNV F229Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 321061 chr12 21196466 21196466 C A rs370378326 SLCO1B7 Nonsynonymous SNV A262D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.859 321062 chr3 139279969 139279969 G T rs371832686 NMNAT3 Nonsynonymous SNV S125R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 321063 chr3 46414755 46414755 T G rs150497029 CCR5 Nonsynonymous SNV L121R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 321064 chr3 38542945 38542945 G A rs777698117 EXOG Nonsynonymous SNV R88Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 321065 chr3 39126143 39126143 C T WDR48 Nonsynonymous SNV T348I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 321066 chr3 51908273 51908273 G C IQCF5-AS1 0.002 0 0 0 2 0 0 0 0 0 0 0 1.049 321067 chr3 160807764 160807764 G A B3GALNT1 Synonymous SNV S98S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.637 321068 chr2 108917391 108917391 G A SULT1C2 Synonymous SNV K125K 0 0.003 0 0 0 1 0 0 0 0 0 0 18.7 321069 chr12 49444249 49444249 T C rs112615033 KMT2D Nonsynonymous SNV Q1041R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.251 321070 chr2 112740561 112740561 A G rs115203717 MERTK Synonymous SNV A429A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 1.722 321071 chr12 51696923 51696923 T C rs756714621 BIN2 Synonymous SNV A29A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.07 321072 chr11 11970033 11970033 T C rs377053549 USP47 Synonymous SNV I1024I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 321073 chr14 24108411 24108411 G A rs149593009 DHRS2 Nonsynonymous SNV R55H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 321074 chr3 73432531 73432531 C T rs772512983 PDZRN3 Synonymous SNV S760S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.578 321075 chr11 62012162 62012162 T C SCGB1D2 Synonymous SNV C88C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 321076 chr11 62361387 62361387 T C rs773581090 MTA2 Nonsynonymous SNV H483R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.581 321077 chr14 24731320 24731320 G C rs767307328 TGM1 Nonsynonymous SNV P80R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.837 321078 chr11 6292316 6292316 A C rs200339576 CCKBR Nonsynonymous SNV Q212P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 321079 chr2 128610562 128610562 G A POLR2D Nonsynonymous SNV T64I 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 321080 chr2 128928791 128928791 C T rs753540379 UGGT1 Synonymous SNV L1013L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.5 321081 chr3 185783669 185783669 G C rs928566701 ETV5 Synonymous SNV P281P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.873 321082 chr11 65270126 65270126 C T rs757054383 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 321083 chr3 195956807 195956807 C G SLC51A Nonsynonymous SNV L219V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 321084 chr14 55818916 55818916 G A rs752582600 FBXO34 Nonsynonymous SNV C603Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 321085 chr11 6630187 6630187 G A rs192233749 ILK Nonsynonymous SNV R174H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.8 321086 chr3 32571977 32571977 A G rs140662500 DYNC1LI1 Synonymous SNV D256D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.315 321087 chr11 14515286 14515286 T C COPB1 Synonymous SNV E131E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.115 321088 chr3 99536950 99536950 C G rs916626843 HP09053 0.001 0 0 0 1 0 0 0 0 0 0 0 8.866 321089 chr12 62918327 62918327 G C rs1032975079 MON2 Synonymous SNV L339L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.247 321090 chr12 69764506 69764506 A G YEATS4 Synonymous SNV L64L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.76 321091 chr12 72024611 72024611 A G ZFC3H1 Synonymous SNV D1198D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.055 321092 chr3 40208715 40208715 G A MYRIP Synonymous SNV T51T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 321093 chr11 70277319 70277319 A G rs141534651 CTTN Nonsynonymous SNV Q363R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.532 321094 chr12 76740136 76740136 G A rs145124702 BBS10 Synonymous SNV N543N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.004 321095 chr11 72983297 72983297 C T rs73538790 P2RY6 Nonsynonymous SNV P19S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.29 321096 chr11 73516109 73516109 C G rs58792356 MRPL48 Nonsynonymous SNV A20G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 321097 chr11 73714871 73714871 C T rs45476292 UCP3, UCP3 Synonymous SNV G275G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.7 321098 chr2 178098921 178098921 G A rs769685782 NFE2L2 Stop gain R26X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 321099 chr11 7531344 7531344 G A rs117297258 OLFML1 Synonymous SNV K242K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.997 321100 chr11 76823736 76823736 C T rs35359847 CAPN5 Synonymous SNV D133D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.42 321101 chr3 46775338 46775338 C A PRSS46P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.345 321102 chr12 102589938 102589938 C T rs775341882 PARPBP Nonsynonymous SNV P456S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.629 321103 chr11 78285508 78285508 C G rs114743209 NARS2 Nonsynonymous SNV R9P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.58 321104 chr12 103245516 103245516 C T rs754686336 PAH Synonymous SNV L287L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.17 321105 chr11 799358 799358 G A rs11820580 PIDD1 Synonymous SNV P894P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.956 321106 chr11 8122413 8122413 C T rs184649891 TUB Nonsynonymous SNV T419M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 321107 chr12 105605017 105605017 C T rs757520073 APPL2 Nonsynonymous SNV D122N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 321108 chr11 82877394 82877394 C G rs185312455 PCF11 Synonymous SNV P485P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.809 321109 chr11 82880647 82880647 A G rs200566388 PCF11 Synonymous SNV V1221V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.186 321110 chr11 82966896 82966896 G A rs115915578 ANKRD42 Nonsynonymous SNV A492T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.96 321111 chr12 108923965 108923965 G A rs114192304 SART3 Synonymous SNV R623R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.453 321112 chr11 44102868 44102868 G A rs143485426 ACCS Nonsynonymous SNV R370H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 321113 chr4 175649715 175649715 G C GLRA3 Synonymous SNV A134A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.931 321114 chr12 109884963 109884963 G T rs762375706 MYO1H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 321115 chr11 8752249 8752249 C T rs374301672 ST5 Synonymous SNV A196A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 321116 chr4 177100720 177100720 A G rs569917602 WDR17 Nonsynonymous SNV N1281S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 321117 chr12 111886011 111886011 G A rs764533642 SH2B3 Nonsynonymous SNV E343K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.75 321118 chr11 45267946 45267946 G A rs769116133 SYT13 Nonsynonymous SNV L322F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 321119 chr12 113346520 113346520 G A OAS1 Synonymous SNV E120E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.781 321120 chr3 52256506 52256506 G A TLR9 Nonsynonymous SNV A609V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.514 321121 chr11 92532113 92532113 C T rs371269485 FAT3 Synonymous SNV S1978S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 321122 chr3 52812523 52812523 G A ITIH1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 321123 chr4 156723656 156723656 C T rs146343051 GUCY1B1 Synonymous SNV I378I 0.001 0 0 0 1 0 0 0 0 0 0 0 16 321124 chr11 993964 993964 C T rs35001393 AP2A2 Synonymous SNV T588T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 321125 chr12 120568462 120568462 G A GCN1 Synonymous SNV S2553S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.54 321126 chr4 187077204 187077204 G A rs140463493 FAM149A Nonsynonymous SNV R145H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 321127 chr12 100048951 100048951 A G rs79164944 ANKS1B Nonsynonymous SNV V389A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.11 321128 chr4 187584660 187584660 T G rs56007012 FAT1 Nonsynonymous SNV I1125L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.05 321129 chr4 20598061 20598061 C T SLIT2 Nonsynonymous SNV P1111L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 321130 chr4 23803420 23803420 G A rs181250217 PPARGC1A Synonymous SNV N615N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.924 321131 chr3 69153684 69153684 T A rs201901789 ARL6IP5 Nonsynonymous SNV I155K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 321132 chr3 88202595 88202595 A C C3orf38 Nonsynonymous SNV T117P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.38 321133 chr12 111020740 111020748 CGCCGCCGC - rs776859280 PPTC7 G30_G32del 0 0 0.003 0 0 0 0 1 0 0 0 0 321134 chr12 112223097 112223097 G A ALDH2 Synonymous SNV K82K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 321135 chr12 112613641 112613641 C T rs372229428 HECTD4 Synonymous SNV T3841T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.83 321136 chr12 129028619 129028619 C T rs561801857 TMEM132C Synonymous SNV C364C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.11 321137 chr12 114296675 114296675 C T rs146110962 RBM19 Nonsynonymous SNV R862H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 321138 chr12 117014085 117014085 G A rs111327250 MAP1LC3B2 Nonsynonymous SNV C113Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 321139 chr12 117014099 117014099 A G rs113585095 MAP1LC3B2 Nonsynonymous SNV T118A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 321140 chr12 117718593 117718593 G A rs9658362 NOS1 Synonymous SNV Y151Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.856 321141 chr12 120527861 120527861 C T rs76028759 BICDL1 Synonymous SNV L516L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 321142 chr12 120595678 120595678 T C rs61292062 GCN1 Nonsynonymous SNV N1021S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321143 chr12 121711880 121711880 G A rs35407516 CAMKK2 Synonymous SNV H150H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.586 321144 chr12 121764923 121764923 G A rs36095958 ANAPC5 Synonymous SNV H360H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 321145 chr12 121858104 121858104 T A RNF34 Nonsynonymous SNV D39E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321146 chr12 121880070 121880070 G A rs201080343 KDM2B Synonymous SNV D989D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.407 321147 chr12 121947691 121947691 G A rs201154323 KDM2B Synonymous SNV G411G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.887 321148 chr12 122396424 122396424 C A rs73415652 WDR66 Synonymous SNV P659P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.458 321149 chr12 122672377 122672377 G A rs114611063 LRRC43 Nonsynonymous SNV A218T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.615 321150 chr12 122685180 122685180 G A rs201963757 LRRC43 Synonymous SNV T531T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.636 321151 chr12 122691002 122691002 C T rs138305029 B3GNT4 Synonymous SNV P43P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.703 321152 chr4 5806542 5806542 T G EVC Nonsynonymous SNV H845Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 321153 chr12 123341187 123341187 G A rs77688072 HIP1R Nonsynonymous SNV D512N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 321154 chr12 123463042 123463042 C G rs75086454 OGFOD2 Nonsynonymous SNV L153V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 321155 chr13 25349021 25349021 T C RNF17 Nonsynonymous SNV M99T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.72 321156 chr12 124229247 124229247 A T rs532258057 ATP6V0A2 Nonsynonymous SNV N477I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 321157 chr12 124268713 124268713 C G rs550759010 DNAH10 Nonsynonymous SNV R346G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 321158 chr12 124330297 124330297 C T rs184981123 DNAH10 Synonymous SNV I1719I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 321159 chr12 124398913 124398913 G C rs73424836 DNAH10 Nonsynonymous SNV V3346L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.03 321160 chr15 42166568 42166568 G T rs370544207 SPTBN5 Synonymous SNV A1537A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.182 321161 chr12 126135448 126135448 A G rs375093445 TMEM132B Synonymous SNV L128L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.401 321162 chr12 127229556 127229556 T C rs149967277 LINC00943 0 0 0.007 0 0 0 0 2 0 0 0 0 3.536 321163 chr12 128899885 128899885 G A rs12307622 TMEM132C Nonsynonymous SNV V232M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.369 321164 chr12 13028539 13028539 T C rs28493723 RPL13AP20 0 0 0.003 0 0 0 0 1 0 0 0 0 6.603 321165 chr13 36744906 36744906 G A rs368229230 CCDC169-SOHLH2, SOHLH2 Nonsynonymous SNV S340L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 321166 chr12 130521432 130521432 C T rs75249996 LINC02418 0 0 0.003 0 0 0 0 1 0 0 0 0 5.688 321167 chr12 130926403 130926403 C T rs114027702 RIMBP2 Synonymous SNV T481T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 321168 chr12 130927138 130927138 C T rs141494162 RIMBP2 Synonymous SNV E236E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.159 321169 chr12 130929757 130929757 C T rs77391015 RIMBP2 Synonymous SNV A196A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 321170 chr4 74964540 74964540 G A CXCL2 Nonsynonymous SNV P67L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 321171 chr15 43029224 43029224 G A rs747138145 CDAN1 Nonsynonymous SNV T26I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 321172 chr12 132852859 132852859 C A rs73168810 LOC100130238 0 0 0.003 0 0 0 0 1 0 0 0 0 3.373 321173 chr12 132854119 132854119 C G rs114345046 LOC100130238 0 0 0.003 0 0 0 0 1 0 0 0 0 3.178 321174 chr12 133201327 133201327 T A rs73481453 POLE Nonsynonymous SNV T2273S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23 321175 chr13 42764577 42764577 A G rs192755914 DGKH Nonsynonymous SNV N406D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.482 321176 chr12 133236030 133236030 C T rs5744856 POLE Synonymous SNV K1042K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.16 321177 chr12 133294581 133294581 C T rs35063557 PGAM5 Synonymous SNV Y198Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.68 321178 chr11 57310409 57310409 T C SMTNL1 Synonymous SNV D98D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.175 321179 chr12 133319817 133319817 C T rs80280706 ANKLE2 Nonsynonymous SNV D426N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.6 321180 chr12 133425306 133425306 C T rs7975454 CHFR Synonymous SNV A419A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.91 321181 chr12 13526092 13526092 C A rs113062409 LINC01559 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 321182 chr12 13526365 13526365 A T rs112418870 LINC01559 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 321183 chr12 14656797 14656797 C T rs145413342 PLBD1 Nonsynonymous SNV R524H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 321184 chr12 14993882 14993882 G A rs28362798 ART4 Nonsynonymous SNV T117I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 321185 chr12 15702129 15702129 T C rs61741744 PTPRO Synonymous SNV S802S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.373 321186 chr4 8396369 8396369 G A rs755214872 ACOX3 Nonsynonymous SNV S386L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.862 321187 chr4 160277141 160277141 G A rs565275790 RAPGEF2 Synonymous SNV S1435S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.361 321188 chr11 58959608 58959608 C T rs770106528 DTX4 Nonsynonymous SNV S314L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 321189 chr12 20522242 20522242 A G rs367945484 PDE3A Synonymous SNV A8A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 321190 chr12 21243035 21243035 C A rs73241802 SLCO1B3-SLCO1B7, SLCO1B7 Nonsynonymous SNV Q640K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.839 321191 chr15 52402008 52402008 A G BCL2L10 Nonsynonymous SNV L241P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.356 321192 chr12 21624569 21624569 T G rs6501 RECQL Nonsynonymous SNV K487T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.41 321193 chr13 52639723 52639723 A C rs747233755 NEK5 Synonymous SNV A624A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.081 321194 chr2 239184487 239184487 T C PER2 Synonymous SNV L115L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.066 321195 chr12 25259950 25259950 A G rs59195395 LRMP Nonsynonymous SNV K408E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 321196 chr12 25347959 25347959 G A rs61732541 CASC1 Nonsynonymous SNV A13V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.083 321197 chr12 26217639 26217639 G A rs148251990 RASSF8 Synonymous SNV Q104Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.713 321198 chr12 26636742 26636742 G A rs80161222 ITPR2 Synonymous SNV T1967T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 321199 chr12 26774089 26774089 T G rs2230373 ITPR2 Nonsynonymous SNV E1143D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.349 321200 chr13 76447994 76447994 G T LMO7DN 0 0.003 0 0 0 1 0 0 0 0 0 0 7.447 321201 chr12 2714910 2714910 G C rs114139824 CACNA1C Synonymous SNV L1038L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.854 321202 chr12 2906050 2906050 C T rs115438010 ITFG2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.762 321203 chr12 2943925 2943925 G A rs116017926 NRIP2 Synonymous SNV D75D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.344 321204 chr12 2958686 2958686 C T rs74054759 TEX52 Nonsynonymous SNV R210Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 321205 chr12 2973495 2973495 A G rs11548397 FOXM1 Synonymous SNV I404I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.197 321206 chr12 2983636 2983636 A G rs28990692 FOXM1 Synonymous SNV T3T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.503 321207 chr4 8218844 8218844 C T rs200153598 SH3TC1 Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 321208 chr12 32458780 32458780 G A rs113903935 BICD1 Synonymous SNV E243E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.779 321209 chr12 330193 330193 C T rs61741313 SLC6A13 Nonsynonymous SNV R485Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 321210 chr5 1064252 1064252 G A rs147157876 SLC12A7 Synonymous SNV I851I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.92 321211 chr12 3736838 3736838 G A rs75371825 CRACR2A Synonymous SNV D590D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.475 321212 chr2 25463268 25463268 C G rs749282210 DNMT3A Nonsynonymous SNV R590P 0 0.003 0 0 0 1 0 0 0 0 0 0 33 321213 chr12 41957391 41957391 C T rs114887054 PDZRN4 Synonymous SNV A211A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 321214 chr12 41966451 41966451 T C rs140341744 PDZRN4 Nonsynonymous SNV C366R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 321215 chr12 42499836 42499836 G A rs376420472 GXYLT1 Synonymous SNV V185V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 321216 chr12 44148899 44148899 G A rs145528273 PUS7L Synonymous SNV I50I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.597 321217 chr12 45444378 45444378 A C rs965862028 DBX2 Synonymous SNV S111S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 321218 chr4 1961236 1961236 G A rs780454337 NSD2 Synonymous SNV A1008A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 321219 chr11 62886345 62886345 G A SLC22A24 Nonsynonymous SNV A290V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.101 321220 chr12 48106320 48106320 G A rs7137511 ENDOU Synonymous SNV Y254Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.963 321221 chr12 48131397 48131397 C T rs773434527 RAPGEF3 Nonsynonymous SNV D867N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 321222 chr13 113795261 113795261 C T rs5962 F10 Synonymous SNV N133N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 12.62 321223 chr12 49167262 49167262 C T rs55797309 ADCY6 Nonsynonymous SNV V871I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 321224 chr12 50044487 50044487 C T FMNL3 Nonsynonymous SNV A607T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 321225 chr12 50473755 50473755 A G rs2307080 ASIC1 Synonymous SNV K408K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.709 321226 chr4 37446892 37446892 G A NWD2 Synonymous SNV Q1094Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.401 321227 chr14 20763483 20763483 T C rs778391302 TTC5 Nonsynonymous SNV E349G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 321228 chr11 65156930 65156930 C T rs373521065 FRMD8 Nonsynonymous SNV R62C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 321229 chr12 51685559 51685559 G A rs149679620 BIN2 Nonsynonymous SNV S390L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 321230 chr11 65554918 65554918 A C rs767422470 OVOL1 Nonsynonymous SNV E25A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 321231 chr12 52182529 52182529 G A rs143867796 SCN8A Synonymous SNV R1385R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.854 321232 chr11 65732870 65732870 C T rs371186444 SART1 Synonymous SNV I204I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 321233 chr11 67209313 67209313 G A rs541464028 CORO1B Synonymous SNV N115N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.851 321234 chr12 53039173 53039173 G C rs35043606 KRT2 Nonsynonymous SNV A517G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.26 321235 chr12 53069312 53069338 AGCCATAGCTGCTACCTCCAGAGCCGT - rs58193503 KRT1 Y525_G533del 0 0 0.003 0 0 0 0 1 0 0 0 0 321236 chr14 23847947 23847947 C G CMTM5 Nonsynonymous SNV P117A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.977 321237 chr12 53224037 53224037 G A rs114878829 KRT79 Synonymous SNV N246N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 321238 chr12 53242389 53242389 G A rs116117459 KRT78 Nonsynonymous SNV T109M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 29.1 321239 chr14 24029231 24029231 C G rs35523637 AP1G2 Nonsynonymous SNV Q343H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.65 321240 chr4 6578413 6578413 T C MAN2B2 Nonsynonymous SNV W83R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 321241 chr12 56030870 56030870 A G rs78001418 OR10P1 Synonymous SNV Q65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.007 321242 chr12 56076006 56076006 C G rs116592765 METTL7B Synonymous SNV V156V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 321243 chr12 56094894 56094894 G C rs149000088 ITGA7 Nonsynonymous SNV I153M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.016 321244 chr12 56101421 56101421 A C rs142060614 ITGA7 Nonsynonymous SNV C16G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.293 321245 chr12 56351403 56351403 C T PMEL Synonymous SNV G142G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 321246 chr12 56726831 56726831 G A rs34174579 PAN2 Synonymous SNV A16A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 321247 chr12 57110595 57110595 G A NACA Synonymous SNV T1573T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.213 321248 chr12 57323239 57323239 C T rs77590816 SDR9C7 Nonsynonymous SNV R220Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.56 321249 chr12 57397161 57397161 G A rs74690943 ZBTB39 Nonsynonymous SNV A514V 0 0 0.003 0 0 0 0 1 0 0 0 0 28 321250 chr11 75154202 75154202 G A rs756094082 GDPD5 Synonymous SNV N171N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.458 321251 chr12 57965900 57965900 G A rs139091551 KIF5A Synonymous SNV L384L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.29 321252 chr5 145439787 145439787 G T SH3RF2 Nonsynonymous SNV K638N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 321253 chr4 75178735 75178735 G T rs535933465 EPGN Nonsynonymous SNV R85S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 321254 chr12 6145649 6145649 A T rs57950734 VWF Nonsynonymous SNV H817Q 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 24.5 321255 chr12 6341823 6341823 C T rs115669578 CD9 Synonymous SNV G67G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.93 321256 chr12 64521957 64521957 C G rs113302231 SRGAP1 Nonsynonymous SNV L930V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21 321257 chr4 77816962 77816962 C T rs765770327 SOWAHB Nonsynonymous SNV G681S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 321258 chr12 6554291 6554291 C T rs34540052 CD27 Synonymous SNV C10C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.26 321259 chr2 85595863 85595863 T G rs139481126 ELMOD3 Nonsynonymous SNV I85S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 321260 chr12 6566659 6566659 C T rs149945987 TAPBPL Nonsynonymous SNV P218L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 321261 chr12 6619402 6619402 T A rs714775 SCARNA10 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 321262 chr12 6640160 6640160 C A rs149422163 NCAPD2 Synonymous SNV T1346T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.68 321263 chr12 66522782 66522782 T C rs149213577 LLPH Synonymous SNV L35L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.063 321264 chr12 66605311 66605311 A G IRAK3 Synonymous SNV G113G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.092 321265 chr14 55818102 55818102 G A rs139920556 FBXO34 Nonsynonymous SNV V332I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 321266 chr12 6923971 6923971 C T rs28917503 CD4 Synonymous SNV T140T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 321267 chr14 58598429 58598429 G A rs201126356 ARMH4 Synonymous SNV D544D 0 0.003 0 0 0 1 0 0 0 0 0 0 6.436 321268 chr5 147813013 147813013 G A rs11949133 FBXO38 Nonsynonymous SNV A649T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 25.4 321269 chr12 72666543 72666543 A T rs7294488 TRHDE-AS1, TRHDE-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.69 321270 chr12 7477100 7477100 G A rs61584783 ACSM4 Nonsynonymous SNV R481H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 321271 chr11 93808500 93808500 A G rs373592570 HEPHL1 Synonymous SNV V555V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.531 321272 chr12 80655834 80655834 G A rs76258355 OTOGL Nonsynonymous SNV V650I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.38 321273 chr16 114987 114987 C T rs373464227 RHBDF1 Synonymous SNV T9T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.87 321274 chr4 89199488 89199488 T A PPM1K Nonsynonymous SNV Y83F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 321275 chr4 89361313 89361313 A C HERC6 Nonsynonymous SNV E882A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.092 321276 chr4 89381275 89381275 T - HERC5 I140Kfs*84 0.001 0 0 0 1 0 0 0 0 0 0 0 321277 chr12 8610578 8610578 G C rs114547499 CLEC6A Nonsynonymous SNV C39S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 321278 chr12 88912624 88912624 G A rs17015782 KITLG Synonymous SNV S71S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.71 321279 chr12 9000147 9000147 T G rs12296765 A2ML1 Synonymous SNV V71V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.615 321280 chr12 9004397 9004397 C T rs61741216 A2ML1 Nonsynonymous SNV A260V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.7 321281 chr4 90171155 90171155 C T rs865984792 GPRIN3 Nonsynonymous SNV R36Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 321282 chr12 9085325 9085330 GCAGCA - rs368945524 PHC1 Q438_Q439del 0 0 0.003 0 0 0 0 1 0 0 0 0 321283 chr12 9087807 9087807 C T rs75673241 PHC1 Nonsynonymous SNV P781S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 321284 chr12 91371957 91371957 T C rs34037526 EPYC Nonsynonymous SNV E83G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 321285 chr12 91539940 91539940 C T rs80123678 DCN Synonymous SNV S138S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.52 321286 chr12 94562943 94562943 A G rs61731578 PLXNC1 Synonymous SNV Q359Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 321287 chr16 1203865 1203865 G C CACNA1H Nonsynonymous SNV G43A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 321288 chr14 71445113 71445113 C T rs201651116 PCNX1 Nonsynonymous SNV R687C 0 0.003 0 0 0 1 0 0 0 0 0 0 33 321289 chr12 95927918 95927918 A - rs758415515 USP44 W39Gfs*34 0 0 0.003 0 0 0 0 1 0 0 0 0 321290 chr5 169805865 169805865 C T rs75485767 KCNMB1 Nonsynonymous SNV R140Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 321291 chr12 97078908 97078908 C T rs77981628 CFAP54 Nonsynonymous SNV T1969I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.674 321292 chr5 170148817 170148817 C A rs762237419 KCNIP1 Synonymous SNV A104A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.537 321293 chr12 97114253 97114253 C G rs74582089 CFAP54 Nonsynonymous SNV S2292C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 321294 chr12 971349 971349 A G rs72648690 WNK1 Synonymous SNV A684A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.15 321295 chr12 97137557 97137557 C T rs111287403 CFAP54 Nonsynonymous SNV R2476W 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 321296 chr12 977296 977296 T C rs72649855 WNK1 Synonymous SNV L802L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.339 321297 chr5 115782665 115782665 C A SEMA6A Nonsynonymous SNV G913W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 321298 chr13 101020827 101020827 C T rs16957356 PCCA Nonsynonymous SNV S508L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.02 321299 chr13 102235682 102235682 C T ITGBL1 Stop gain R141X 0 0 0.003 0 0 0 0 1 0 0 0 0 41 321300 chr5 124079943 124079943 G A rs144152813 ZNF608 Nonsynonymous SNV A247V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 321301 chr13 109613970 109613970 C T rs112439513 MYO16 Synonymous SNV S707S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.55 321302 chr13 110853813 110853813 C T rs531373470 COL4A1 Synonymous SNV P352P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.35 321303 chr5 131630648 131630648 C T rs11568502 SLC22A4 Synonymous SNV C113C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 321304 chr5 131924569 131924569 G A RAD50 Synonymous SNV L414L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.306 321305 chr13 114762198 114762198 C T rs1106101 RASA3 Synonymous SNV Q618Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.678 321306 chr13 115009384 115009384 G A rs17291173 CDC16 Synonymous SNV E135E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 321307 chr13 115090136 115090136 T C rs3813132 CHAMP1 Synonymous SNV T273T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 321308 chr13 115090931 115090931 C T rs34004547 CHAMP1 Synonymous SNV A538A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.522 321309 chr14 94526599 94526599 A G DDX24 Synonymous SNV Y586Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.124 321310 chr14 94528617 94528617 C T rs142441892 DDX24 Nonsynonymous SNV E357K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.11 321311 chr13 21228053 21228053 G C rs79942385 IFT88 Nonsynonymous SNV C615S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 29 321312 chr13 24797333 24797333 G C rs1220545 SPATA13 Nonsynonymous SNV R89P 0 0 0.003 0 0 0 0 1 0 0 0 0 27 321313 chr13 28608473 28608473 C T rs35958982 FLT3 Nonsynonymous SNV V557I 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 8.306 321314 chr12 124350554 124350554 T C rs899032141 DNAH10 Synonymous SNV Y2249Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.709 321315 chr13 28854657 28854657 C A rs45514000 PAN3 Synonymous SNV V766V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.16 321316 chr13 33590718 33590718 G A rs201936594 KL Nonsynonymous SNV R47Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.633 321317 chr13 36822743 36822743 G A rs146943613 CCDC169, CCDC169-SOHLH2 Nonsynonymous SNV T82I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 321318 chr5 140264097 140264097 G A rs782026771 PCDHA13 Stop gain W748X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 321319 chr13 37014187 37014187 G A rs140946240 CCNA1 Nonsynonymous SNV R321Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 321320 chr13 37678556 37678558 GCT - rs546656835 CSNK1A1L Q279del 0 0 0.003 0 0 0 0 1 0 0 0 0 321321 chr13 38320398 38320398 A G rs73458357 TRPC4 Synonymous SNV R191R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.734 321322 chr13 39613418 39613418 T C rs142288118 NHLRC3 Nonsynonymous SNV I77T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 321323 chr13 41507579 41507579 C T rs115657038 ELF1 Synonymous SNV L590L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.151 321324 chr13 41767452 41767452 C G rs74050330 KBTBD7 Synonymous SNV V314V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.044 321325 chr13 42385471 42385471 T C rs61731753 VWA8 Synonymous SNV Q651Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 321326 chr13 42877826 42877826 A G rs408007 AKAP11 Synonymous SNV A1648A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.977 321327 chr13 46137914 46137914 T C rs145139828 ERICH6B Synonymous SNV K399K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 321328 chr13 46563037 46563037 C T rs34042976 ZC3H13 Synonymous SNV S380S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 321329 chr5 54522899 54522899 A C MCIDAS Nonsynonymous SNV L23R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 321330 chr13 47315897 47315897 A G rs139053270 LRCH1 Nonsynonymous SNV R701G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 321331 chr12 14804342 14804342 C T rs201766969 GUCY2C Nonsynonymous SNV R570Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 321332 chr13 48955458 48955458 C G rs4151539 RB1 Nonsynonymous SNV A525G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.6 321333 chr15 27128326 27128326 G A rs375315395 GABRA5 Synonymous SNV Q74Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.083 321334 chr5 149754326 149754326 G A rs774138891 TCOF1 Synonymous SNV S333S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.124 321335 chr13 52549258 52549258 A G rs184868522 ATP7B Nonsynonymous SNV M33T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.77 321336 chr12 18852837 18852837 A G PLCZ1 Synonymous SNV Y162Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.774 321337 chr3 148759964 148759964 T C rs138717471 HLTF Nonsynonymous SNV N728S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.798 321338 chr13 77460080 77460080 C T rs116710456 KCTD12 Synonymous SNV Q68Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.21 321339 chr16 30734374 30734374 C T SRCAP Nonsynonymous SNV A1328V 0 0 0 2 0 0 0.005 0 0 0 0 0 23.6 321340 chr13 97485437 97485437 G A rs115169080 HS6ST3 Synonymous SNV Q467Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.507 321341 chr13 98654845 98654845 T G rs759296955 IPO5 Synonymous SNV P411P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 321342 chr12 27915800 27915800 G A rs757110296 MANSC4 Synonymous SNV L298L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.52 321343 chr12 27915978 27915978 A G rs990915261 MANSC4 Nonsynonymous SNV I239T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 321344 chr15 40594796 40594796 C T rs199952116 PLCB2 Synonymous SNV R82R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.87 321345 chr12 2983220 2983220 C T rs140520587 FOXM1 Nonsynonymous SNV G142E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 321346 chr5 75858283 75858283 G A rs369077131 IQGAP2 Nonsynonymous SNV R20Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 321347 chr12 32136320 32136320 A G rs12297628 RESF1 Nonsynonymous SNV T811A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 321348 chr15 41804968 41804968 A C rs1047240655 LTK Nonsynonymous SNV V99G 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 321349 chr14 102229268 102229268 A G rs748853719 PPP2R5C Synonymous SNV G18G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.908 321350 chr14 102550878 102550878 C T rs1037591687 HSP90AA1 Synonymous SNV L335L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 321351 chr12 39161511 39161511 G C CPNE8 Nonsynonymous SNV N167K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 321352 chr5 156565929 156565929 G A MED7 Nonsynonymous SNV P172S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 321353 chr16 54967065 54967065 G A rs759076754 IRX5 Synonymous SNV E243E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.057 321354 chr14 103568949 103568949 G A rs9324055 EXOC3L4 Nonsynonymous SNV V297M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 321355 chr3 169587423 169587423 G A rs113189539 LRRC31 Nonsynonymous SNV T58I 0 0.005 0 0 0 2 0 0 0 0 0 0 2.615 321356 chr14 103587257 103587257 G A rs10130208 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 3.761 321357 chr14 103588994 103588994 C T rs61739445 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 7.314 321358 chr14 103589029 103589029 G A rs61740958 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 6.623 321359 chr14 103589178 103589178 G C rs116438665 LINC00677 0 0 0.003 0 0 0 0 1 0 0 0 0 5.249 321360 chr14 103598057 103598057 C T rs564019638 TNFAIP2 Synonymous SNV H460H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 321361 chr14 103804773 103804773 A G rs111868513 EIF5 Synonymous SNV P183P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 321362 chr14 104038060 104038060 A G rs35960830 COA8 Nonsynonymous SNV N75S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 19.47 321363 chr14 104624232 104624232 G A rs76913416 KIF26A Synonymous SNV S292S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.184 321364 chr16 57468080 57468080 T G rs746510313 CIAPIN1 Synonymous SNV R131R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.194 321365 chr5 168098277 168098277 C T rs149659886 SLIT3 Synonymous SNV V1358V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.12 321366 chr14 105353052 105353052 G A rs143115183 CEP170B Nonsynonymous SNV A756T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 321367 chr14 105353136 105353136 C G rs62641739 CEP170B Nonsynonymous SNV P784A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.193 321368 chr12 49498623 49498623 G T LMBR1L Synonymous SNV V79V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.279 321369 chr14 105518060 105518060 G A rs138044047 GPR132 Synonymous SNV C129C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 321370 chr14 20528819 20528819 C T rs142841517 OR4L1 Nonsynonymous SNV L206F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 321371 chr14 20763523 20763523 C T rs113096483 TTC5 Nonsynonymous SNV V336I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 321372 chr14 20943408 20943408 G A rs138702206 PNP Nonsynonymous SNV V217I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 321373 chr5 98206448 98206448 G A rs200865526 CHD1 Synonymous SNV D1307D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.397 321374 chr5 179393918 179393918 G A rs746280900 RNF130 Synonymous SNV L346L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.915 321375 chr5 2751317 2751317 C T IRX2 Nonsynonymous SNV D71N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 321376 chr16 75258711 75258711 G A rs201736292 CTRB1 Nonsynonymous SNV R202H 0 0 0 1 0 0 0.003 0 0 0 0 0 4.243 321377 chr3 194408722 194408722 C A FAM43A Nonsynonymous SNV S389R 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 321378 chr14 31618293 31618293 A G rs35407911 HECTD1 Synonymous SNV P743P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.718 321379 chr14 31806709 31806709 T C rs201943486 HEATR5A Nonsynonymous SNV K1114E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 321380 chr14 31819860 31819860 C T rs61754155 HEATR5A Synonymous SNV V825V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 321381 chr14 31844064 31844064 T A rs199501778 HEATR5A Nonsynonymous SNV T607S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 321382 chr14 31864409 31864409 G A rs550839386 HEATR5A Nonsynonymous SNV A198V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 321383 chr16 84488474 84488474 C T rs200064791 ATP2C2 Synonymous SNV N526N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 14.07 321384 chr14 35515746 35515746 A G rs146253684 FAM177A1 Nonsynonymous SNV Q26R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 321385 chr14 36789780 36789780 C T rs138198154 MBIP Synonymous SNV T5T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.47 321386 chr3 51246207 51246207 G A DOCK3 Nonsynonymous SNV C347Y 0.003 0 0 0 3 0 0 0 0 0 0 0 28.5 321387 chr12 62931947 62931947 A G MON2 Synonymous SNV G730G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.707 321388 chr15 76463342 76463342 C T rs376311119 TMEM266 Synonymous SNV D174D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.64 321389 chr12 66638318 66638318 A G rs138154599 IRAK3 Nonsynonymous SNV M253V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 321390 chr15 77425756 77425756 C T rs199818872 PEAK1 Nonsynonymous SNV R1223H 0 0.003 0 0 0 1 0 0 0 0 0 0 2.429 321391 chr14 57741463 57741463 A G rs35913271 AP5M1 Synonymous SNV P192P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.751 321392 chr14 58831567 58831567 A G rs34854642 ARID4A Synonymous SNV Q920Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.348 321393 chr14 59950662 59950662 G A rs35622288 L3HYPDH Nonsynonymous SNV P125S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321394 chr14 59961931 59961931 C T rs17096302 JKAMP Synonymous SNV A143A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 321395 chr14 59965448 59965448 T C rs73303685 JKAMP Synonymous SNV Y148Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.437 321396 chr14 59988312 59988312 C T rs73305628 CCDC175 Nonsynonymous SNV R693Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.334 321397 chr14 59988340 59988340 G A rs17096349 CCDC175 Nonsynonymous SNV L684F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.74 321398 chr15 83349298 83349298 G T rs756215154 AP3B2 Synonymous SNV L295L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 321399 chr15 83438613 83438613 T C rs764833198 FSD2 Nonsynonymous SNV T431A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 321400 chr14 61190208 61190208 C T rs113791375 SIX4 Synonymous SNV E195E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 321401 chr14 61441896 61441896 T C rs1129311 TRMT5 Synonymous SNV P515P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.058 321402 chr14 61446081 61446081 G T rs76079086 TRMT5 Nonsynonymous SNV H207N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.99 321403 chr14 61449249 61449249 A G rs17097940 SLC38A6 Synonymous SNV P43P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 321404 chr14 61550278 61550278 G C rs150568487 SLC38A6 Nonsynonymous SNV D472H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 321405 chr14 61550372 61550372 C A rs147438249 SLC38A6 Nonsynonymous SNV T503N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.35 321406 chr14 62536423 62536423 G A rs368612700 SYT16 Nonsynonymous SNV R99H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 321407 chr14 62541956 62541956 C T SYT16 Synonymous SNV A99A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.82 321408 chr12 81072797 81072797 A G PTPRQ Nonsynonymous SNV M2127V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 321409 chr12 88554591 88554591 G A TMTC3 Nonsynonymous SNV V23I 0 0 0.003 0 0 0 0 1 0 0 0 0 22 321410 chr14 71444023 71444023 T G PCNX1 Synonymous SNV S323S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.163 321411 chr5 82836690 82836690 A G rs141356119 VCAN Nonsynonymous SNV Y1636C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 321412 chr12 97133825 97133825 T G rs143419626 CFAP54 Nonsynonymous SNV S2353A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.85 321413 chr12 97180588 97180588 C G rs940246940 CFAP54 Nonsynonymous SNV S2864C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 321414 chr14 77580417 77580417 A G CIPC Nonsynonymous SNV N319S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 321415 chr15 90349229 90349229 T C ANPEP Nonsynonymous SNV S196G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 321416 chr13 100169870 100169870 C T rs545493066 TM9SF2 Synonymous SNV A58A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 321417 chr5 9066665 9066665 C T rs151007766 SEMA5A Nonsynonymous SNV G723S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 321418 chr13 103388335 103388335 T C rs571819231 CCDC168 Synonymous SNV A4904A 0 0 0.007 0 0 0 0 2 0 0 0 0 0.028 321419 chr14 88945316 88945316 G A rs147166836 PTPN21 Nonsynonymous SNV S820L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 321420 chr14 89039308 89039308 A G rs116690538 ZC3H14 Nonsynonymous SNV Y118C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 321421 chr14 89883939 89883939 G C rs76946830 FOXN3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 321422 chr14 90784427 90784427 C A rs7140914 NRDE2 Nonsynonymous SNV C32F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 321423 chr14 93412815 93412815 G A rs143116443 ITPK1 Synonymous SNV F135F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.47 321424 chr3 56653902 56653902 C A rs567425840 CCDC66 Synonymous SNV I878I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 321425 chr6 17629449 17629449 G C rs188037000 NUP153 Nonsynonymous SNV S952C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.23 321426 chr16 310005 310005 G A rs13335497 FAM234A Synonymous SNV S141S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 6.746 321427 chr16 324252 324252 C T rs145112941 RGS11 Stop gain W90X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 321428 chr6 20109944 20109944 T C rs202103289 MBOAT1 Nonsynonymous SNV R416G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.679 321429 chr13 114751241 114751241 G A rs544583540 RASA3 Synonymous SNV D726D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.107 321430 chr6 17849676 17849676 C T rs531653111 KIF13A Synonymous SNV A254A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 321431 chr14 95107881 95107881 C - rs142495684 SERPINA13P 0 0 0.003 0 0 0 0 1 0 0 0 0 321432 chr6 111543252 111543252 C T rs541422762 SLC16A10 Synonymous SNV L454L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 321433 chr14 96707726 96707726 G A rs2227279 BDKRB2 Nonsynonymous SNV G354E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 321434 chr14 97410005 97410005 G A rs116519091 LINC00618 0 0 0.003 0 0 0 0 1 0 0 0 0 5.778 321435 chr14 97411597 97411597 T A rs8019533 LINC00618 0 0 0.003 0 0 0 0 1 0 0 0 0 7.045 321436 chr14 99183470 99183470 A C C14orf177 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 321437 chr13 23911034 23911034 C G rs763681240 SACS Nonsynonymous SNV L2180F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.28 321438 chr15 101094471 101094471 G A rs74039419 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.601 321439 chr15 101099043 101099043 C T rs78401599 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.513 321440 chr15 101099303 101099303 C T rs527642342 PRKXP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.079 321441 chr15 101113945 101113945 T C rs143212181 LINS1 Nonsynonymous SNV D378G 0 0 0.003 0 0 0 0 1 0 0 0 0 28 321442 chr15 101188601 101188601 A G rs74039473 ASB7 Synonymous SNV L297L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.759 321443 chr15 102359307 102359307 G A rs12324219 OR4F15 Synonymous SNV A306A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.947 321444 chr15 102388904 102388904 T C rs994743713 OR4F13P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.799 321445 chr15 25330341 25330341 C T rs145024396 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 5.679 321446 chr15 25486837 25486837 G A rs55820639 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 1.32 321447 chr16 2514046 2514046 C T rs377495646 TEDC2 Nonsynonymous SNV A324V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.555 321448 chr15 31234207 31234207 T C rs143879487 MTMR10 Synonymous SNV E600E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.248 321449 chr15 31283024 31283024 T C rs147790903 MTMR10 Nonsynonymous SNV N26S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 321450 chr15 33445429 33445429 A G rs73380694 FMN1 Nonsynonymous SNV S563P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.57 321451 chr15 33893659 33893659 G A rs114825824 RYR3 Nonsynonymous SNV V610I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.1 321452 chr16 3645629 3645629 G T rs759223029 SLX4 Nonsynonymous SNV P664T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 321453 chr15 34048546 34048546 G A rs150799181 RYR3 Nonsynonymous SNV R2852H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.7 321454 chr15 34544420 34544420 G A rs34098566 SLC12A6 Synonymous SNV N413N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.44 321455 chr15 37039185 37039185 A C rs55896008 C15orf41 Nonsynonymous SNV S256R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.219 321456 chr15 38794572 38794572 T C rs12324516 RASGRP1 Synonymous SNV E458E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.729 321457 chr6 38805801 38805801 G A rs61757623 DNAH8 Synonymous SNV E1266E 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.165 321458 chr6 38863945 38863945 C T rs762468209 DNAH8 Nonsynonymous SNV P2745S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.29 321459 chr6 39033987 39033987 G A rs776194642 GLP1R Synonymous SNV E139E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 321460 chr6 39046130 39046130 A G rs761383264 GLP1R Nonsynonymous SNV I286V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.107 321461 chr6 39832791 39832791 G T rs749360733 DAAM2 Synonymous SNV T123T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 321462 chr15 40590824 40590824 G C rs114336069 PLCB2 Nonsynonymous SNV H312Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.011 321463 chr6 143095751 143095751 T A HIVEP2 Nonsynonymous SNV H42L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 321464 chr15 40659676 40659676 C T rs371735197 DISP2 Nonsynonymous SNV R455W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 321465 chr15 40660231 40660231 T G rs571380420 DISP2 Nonsynonymous SNV S640A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 321466 chr15 40750677 40750677 G A rs73387101 BAHD1 Nonsynonymous SNV R5Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 321467 chr16 4940837 4940837 G C rs61734741 PPL Nonsynonymous SNV T685R 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 20.6 321468 chr15 40751595 40751595 G A rs201259550 BAHD1 Nonsynonymous SNV R311H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.84 321469 chr16 4942165 4942165 G A rs149302444 PPL Nonsynonymous SNV T567M 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.407 321470 chr15 40913189 40913189 A G rs76371152 KNL1 Nonsynonymous SNV I243V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 321471 chr16 5077149 5077149 A G rs750233095 NAGPA Nonsynonymous SNV S443P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.484 321472 chr6 4052230 4052230 A G rs1054356 PRPF4B Synonymous SNV K738K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.507 321473 chr6 4069378 4069378 C G rs17137618 FAM217A Nonsynonymous SNV C360S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 321474 chr15 40917393 40917393 A G rs76098847 KNL1 Nonsynonymous SNV K1644R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.7 321475 chr15 41099827 41099827 C T rs200489257 ZFYVE19 Nonsynonymous SNV P14S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.242 321476 chr15 41105021 41105023 GGA - rs554882498 ZFYVE19 E319del 0 0 0.003 0 0 0 0 1 0 0 0 0 321477 chr13 74518160 74518160 C T rs150352924 KLF12 Synonymous SNV P27P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.85 321478 chr15 41148138 41148138 C T rs142750993 SPINT1 Nonsynonymous SNV P389L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 321479 chr6 4122279 4122279 A G rs17137678 C6orf201 Synonymous SNV T127T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.321 321480 chr15 41193148 41193148 G A rs757456048 VPS18 Nonsynonymous SNV R711H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.69 321481 chr15 41813062 41813062 G C rs7170898 RPAP1 Nonsynonymous SNV R1108G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.36 321482 chr13 77671560 77671560 C T MYCBP2 Synonymous SNV L3243L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.129 321483 chr15 42107924 42107924 G A rs142978237 MAPKBP1 Nonsynonymous SNV V474M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.74 321484 chr6 43034839 43034839 - G KLC4 Frameshift insertion P300Afs*58 0.001 0 0 0 1 0 0 0 0 0 0 0 321485 chr6 157099926 157099926 A G rs980540915 ARID1B Nonsynonymous SNV E288G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.707 321486 chr15 42129086 42129086 T C rs201884301 JMJD7 Synonymous SNV Y270Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 321487 chr15 42140022 42140022 - GCAGTGCAGCGGAGGCGGCAGCGCAGGCCCCACTGATGGCCGGGGCCT rs570217994 JMJD7-PLA2G4B, PLA2G4B Stop gain Q770delinsQAVQRRRQRRPHX 0 0 0.003 0 0 0 0 1 0 0 0 0 321488 chr15 42175421 42175421 C T rs148297597 SPTBN5 Synonymous SNV P555P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 321489 chr15 42276803 42276803 G A rs116431025 PLA2G4E Synonymous SNV T739T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.061 321490 chr15 42280329 42280329 C T rs367938951 PLA2G4E Synonymous SNV L583L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 321491 chr15 42281728 42281728 G A rs185816693 PLA2G4E Synonymous SNV Y536Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.504 321492 chr15 42292175 42292175 C G rs59786885 PLA2G4E Nonsynonymous SNV K292N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 321493 chr15 42293391 42293391 G A rs59021651 PLA2G4E Nonsynonymous SNV H213Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.02 321494 chr15 42294873 42294873 G A rs374191001 PLA2G4E Synonymous SNV L196L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.05 321495 chr15 42982583 42982585 GCA - rs372616226 STARD9 S2937del 0 0 0.003 0 0 0 0 1 0 0 0 0 321496 chr14 101348775 101348775 G C RTL1 Nonsynonymous SNV P784R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 321497 chr15 42986042 42986042 C A rs116737895 STARD9 Nonsynonymous SNV P4089H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.41 321498 chr15 43020908 43020908 C G CDAN1 Nonsynonymous SNV E916Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 321499 chr15 43481408 43481408 G A rs115357955 CCNDBP1 Synonymous SNV K87K 0 0 0.003 0 0 0 0 1 0 0 0 0 12 321500 chr15 43579740 43579740 A G rs75537788 TGM7 Nonsynonymous SNV M229T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 321501 chr6 157495180 157495180 T C ARID1B Nonsynonymous SNV S259P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.91 321502 chr15 43748115 43748115 T A TP53BP1 Synonymous SNV S897S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.362 321503 chr15 43749149 43749149 T C rs115849551 TP53BP1 Nonsynonymous SNV T553A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.204 321504 chr15 43818836 43818836 C G MAP1A Nonsynonymous SNV T1722S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.093 321505 chr15 44088848 44088848 C T rs142567982 SERINC4 Nonsynonymous SNV A101T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.94 321506 chr15 44092779 44092779 C T rs114182390 SERF2-C15ORF63 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 321507 chr15 44166402 44166402 C A rs114372958 FRMD5 Nonsynonymous SNV S430I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 321508 chr16 22274500 22274500 C T rs757485312 EEF2K Stop gain R457X 0 0.003 0 0 0 1 0 0 0 0 0 0 40 321509 chr15 45396434 45396434 T C rs143972092 DUOX2 Nonsynonymous SNV M822V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.56 321510 chr15 45401083 45401083 T C rs78412174 DUOX2 Synonymous SNV R434R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.347 321511 chr15 45412888 45412888 G T rs150765255 DUOXA1 Nonsynonymous SNV D107E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 321512 chr15 45694821 45694821 G A rs115424730 SPATA5L1 Nonsynonymous SNV R65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 321513 chr15 45707914 45707914 A G rs16943025 SPATA5L1 Nonsynonymous SNV N592D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 321514 chr15 45814328 45814328 G A rs143336539 SLC30A4 Synonymous SNV S75S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 321515 chr14 105858038 105858038 G A rs368303452 PACS2 Synonymous SNV A640A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 321516 chr15 48729261 48729261 G A rs61730051 FBN1 Synonymous SNV C2131C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.43 321517 chr15 48812974 48812974 C T rs75655780 FBN1 Synonymous SNV G343G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.67 321518 chr15 50769640 50769640 A G rs150568948 USP8 Nonsynonymous SNV K311E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.82 321519 chr15 50836846 50836846 G C rs114737323 USP50 Synonymous SNV L62L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.02 321520 chr15 51763499 51763499 G A rs372032462 DMXL2 Nonsynonymous SNV P1801L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 321521 chr15 51829811 51829811 C G rs114265876 DMXL2 Synonymous SNV T497T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.39 321522 chr15 51834627 51834627 G A rs139211716 DMXL2 Synonymous SNV P336P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.903 321523 chr16 30581516 30581516 C T rs151068577 ZNF688 Synonymous SNV V170V 0 0.003 0 0 0 1 0 0 0 0 0 0 14.4 321524 chr15 52901109 52901109 T C rs61731676 FAM214A Nonsynonymous SNV K675E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321525 chr15 52901887 52901887 A G rs75512966 FAM214A Synonymous SNV L415L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 321526 chr14 20898632 20898632 C T rs530616192 KLHL33 Nonsynonymous SNV R68Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 321527 chr16 31049337 31049337 C T rs141075935 STX4 Nonsynonymous SNV R79W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 321528 chr15 55790540 55790540 G A rs61753409 DNAAF4-CCPG1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.844 321529 chr6 56484666 56484666 A G DST Nonsynonymous SNV L1389P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.702 321530 chr15 56686989 56686989 A G rs79299042 TEX9 Nonsynonymous SNV K187R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 321531 chr16 46615684 46615684 A G SHCBP1 Nonsynonymous SNV F581S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 321532 chr14 21552090 21552090 G C rs371145681 ARHGEF40 Nonsynonymous SNV E510Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 321533 chr6 65149140 65149140 T C EYS Nonsynonymous SNV Y1917C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.71 321534 chr15 58001252 58001252 A G rs28517767 GCOM1, POLR2M Nonsynonymous SNV K152E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 321535 chr6 65300775 65300775 T A rs147641443 EYS Nonsynonymous SNV D1662V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.28 321536 chr15 58984926 58984926 T C rs777491673 HSP90AB4P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.141 321537 chr15 59064014 59064014 A G rs28559610 MINDY2 Synonymous SNV Q140Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 321538 chr15 59406674 59406674 T C rs16941036 CCNB2 Nonsynonymous SNV M100T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.88 321539 chr15 59515277 59515277 C T rs182142363 MYO1E Synonymous SNV A297A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 321540 chr15 63421761 63421761 T C rs146399929 LACTB Synonymous SNV L344L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.35 321541 chr15 65369399 65369399 G C rs115182478 KBTBD13 Synonymous SNV V82V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.768 321542 chr15 65678229 65678229 A C rs575739089 IGDCC4 Synonymous SNV A1040A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.773 321543 chr16 57938755 57938755 A T CNGB1 Synonymous SNV A833A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.186 321544 chr15 66644515 66644515 G A rs115121189 TIPIN Nonsynonymous SNV P55L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 321545 chr15 67664610 67664610 C T rs34738407 IQCH Synonymous SNV V53V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.976 321546 chr15 69076809 69076809 G A rs116525439 ANP32A Synonymous SNV D151D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 321547 chr15 69652440 69652440 C T rs146154864 PAQR5 Synonymous SNV P7P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 321548 chr15 70342529 70342529 C T rs35256928 TLE3 Synonymous SNV S669S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.2 321549 chr15 73616146 73616146 G A HCN4 Nonsynonymous SNV A763V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 321550 chr15 73843430 73843430 C T rs56996732 REC114 Nonsynonymous SNV P134L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 321551 chr15 74467733 74467733 C T rs114338290 ISLR Synonymous SNV N178N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.78 321552 chr15 74637572 74637572 G A rs141920628 CYP11A1 Synonymous SNV A146A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.403 321553 chr7 100245112 100245114 CTC - ACTL6B E238del 0.001 0 0 0 1 0 0 0 0 0 0 0 321554 chr15 79277327 79277327 G C rs11855236 LOC100129540 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 321555 chr14 51239122 51239122 C T rs772314635 NIN Nonsynonymous SNV R293Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 321556 chr6 35047445 35047445 T C rs766873871 ANKS1A Synonymous SNV N812N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.244 321557 chr15 81217024 81217024 G A rs28566789 CEMIP Synonymous SNV P755P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.07 321558 chr15 81218070 81218070 C T rs34298272 CEMIP Synonymous SNV G798G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 321559 chr6 35745241 35745241 C T CLPSL2 Synonymous SNV I30I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.556 321560 chr14 54416960 54416960 C G BMP4 Synonymous SNV G339G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.496 321561 chr15 81654618 81654618 C T rs78124976 TMC3 Nonsynonymous SNV A113T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 321562 chr4 3498575 3498575 C T rs557552782 DOK7 Nonsynonymous SNV A365V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.357 321563 chr15 83926233 83926233 C A rs147598729 BNC1 Synonymous SNV L975L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 321564 chr15 86822926 86822926 A G rs117184817 AGBL1 Nonsynonymous SNV Y711C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 321565 chr15 89073902 89073902 C T rs116110422 DET1 Synonymous SNV K345K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 321566 chr6 51889628 51889628 C T rs767061150 PKHD1 Synonymous SNV L1660L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.727 321567 chr15 89402227 89402227 C T rs34543273 ACAN Synonymous SNV H2137H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.832 321568 chr15 90119085 90119085 C G rs371327246 TICRR Nonsynonymous SNV L90V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 321569 chr15 90126014 90126014 A G rs201955364 TICRR Nonsynonymous SNV D251G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.601 321570 chr17 54671934 54671934 C G rs750997261 NOG Nonsynonymous SNV P117R 0 0 0 1 0 0 0.003 0 0 0 0 0 24 321571 chr14 71267667 71267667 C T MAP3K9 Synonymous SNV E179E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 321572 chr14 72925008 72925008 G T rs367643813 RGS6 Nonsynonymous SNV A54S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 321573 chr15 90344722 90344722 G C rs150790591 ANPEP Synonymous SNV S562S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.98 321574 chr15 90451619 90451619 C T rs199878966 ARPIN, ARPIN-AP3S2 Nonsynonymous SNV R65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 321575 chr15 90984862 90984862 C T rs114889611 IQGAP1 Synonymous SNV Y258Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.11 321576 chr15 91419118 91419118 C T rs143865091 FURIN Nonsynonymous SNV R50W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 321577 chr15 91461934 91461934 C T rs144692053 MAN2A2 Synonymous SNV C1083C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 321578 chr15 93749887 93749887 C G rs115698584 LOC105370980 Nonsynonymous SNV D155E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.141 321579 chr15 99434777 99434777 C T rs34430460 IGF1R Synonymous SNV A288A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.38 321580 chr16 1129351 1129351 C T rs35328406 SSTR5 Synonymous SNV A161A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.226 321581 chr6 54805208 54805208 G A rs750088415 FAM83B Nonsynonymous SNV R480Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 321582 chr14 89878511 89878511 G A rs369647846 FOXN3 Nonsynonymous SNV P104S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 321583 chr6 88227906 88227906 T C rs200632524 RARS2 Nonsynonymous SNV I323V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.627 321584 chr14 94642429 94642429 C T PPP4R4 Synonymous SNV D52D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 321585 chr17 71364616 71364616 G C SDK2 Nonsynonymous SNV S1699R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 321586 chr14 95056463 95056463 G C rs776122878 SERPINA5 Nonsynonymous SNV M235I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 321587 chr6 73001685 73001685 G A rs369147538 RIMS1 Synonymous SNV S507S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 8.531 321588 chr16 19619531 19619531 G A rs34693771 VPS35L Synonymous SNV T272T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 321589 chr5 114879011 114879011 G A rs201883849 FEM1C Synonymous SNV L60L 0.002 0 0 0 2 0 0 0 0 0 0 0 7.544 321590 chr7 128506487 128506487 C T rs773470446 ATP6V1FNB Synonymous SNV D8D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.764 321591 chr15 25449832 25449832 G A rs77729596 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 6.027 321592 chr4 85611796 85611796 A G WDFY3 Synonymous SNV L3076L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.664 321593 chr16 2138508 2138508 G C rs9209 TSC2 Nonsynonymous SNV S1530T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.307 321594 chr16 21654473 21654473 C G rs551101179 IGSF6 Nonsynonymous SNV K196N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 321595 chr16 22360617 22360617 C T rs7195033 CDR2 Synonymous SNV E163E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 321596 chr16 2237062 2237062 C T rs143211169 CASKIN1 Nonsynonymous SNV A283T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 321597 chr16 23646448 23646448 T G rs62625275 PALB2 Synonymous SNV P473P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.319 321598 chr16 25252006 25252006 C T rs144166062 ZKSCAN2 Nonsynonymous SNV D679N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.63 321599 chr16 28931140 28931140 G A RABEP2 Synonymous SNV Y133Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 321600 chr15 42111798 42111798 G A rs150484161 MAPKBP1 Nonsynonymous SNV V811I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.825 321601 chr16 3023008 3023008 G A rs4149804 PKMYT1 Synonymous SNV S413S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 321602 chr16 30364309 30364309 G A rs144808257 CD2BP2 Synonymous SNV T341T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.377 321603 chr16 30364390 30364390 C T rs141894460 CD2BP2 Synonymous SNV P314P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 321604 chr5 139228242 139228242 C G NRG2 Nonsynonymous SNV V539L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 321605 chr16 31087840 31087840 C T rs144376882 ZNF646 Synonymous SNV N65N 0 0 0.003 0 0 0 0 1 0 0 0 0 4.674 321606 chr7 149493506 149493506 C T rs150278929 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 2.357 321607 chr16 31283290 31283290 G A rs41499844 ITGAM Synonymous SNV T227T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.616 321608 chr16 3140322 3140322 C G rs144122567 ZSCAN10 Synonymous SNV P234P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 321609 chr16 31435507 31435507 G C rs187175358 ITGAD Nonsynonymous SNV A1083P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 321610 chr16 31500518 31500518 G A rs774567635 SLC5A2 Synonymous SNV S508S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.42 321611 chr16 31519484 31519484 A G rs369023846 C16orf58 Nonsynonymous SNV S71P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.302 321612 chr16 3544783 3544783 G - rs761799120 C16orf90 S48Vfs*213 0 0 0.003 0 0 0 0 1 0 0 0 0 321613 chr15 52901669 52901669 - C FAM214A Frameshift insertion E488Gfs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 321614 chr16 48174780 48174780 C T rs138695112 ABCC12 Nonsynonymous SNV V159I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 321615 chr16 48234214 48234214 C T rs61745566 ABCC11 Synonymous SNV T685T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.389 321616 chr7 12412621 12412621 G A VWDE Synonymous SNV Y523Y 0.002 0 0 0 2 0 0 0 0 0 0 0 7.591 321617 chr16 53075934 53075934 T C rs16951957 LOC105371267 0 0 0.003 0 0 0 0 1 0 0 0 0 11.8 321618 chr16 53726206 53726206 G A RPGRIP1L Nonsynonymous SNV R101W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 321619 chr15 65114716 65114716 C T rs374923447 PIF1 Nonsynonymous SNV V218I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 321620 chr7 21784489 21784489 G A rs201180532 DNAH11 Nonsynonymous SNV G2773D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 321621 chr16 56920318 56920318 G A rs150378634 SLC12A3 Synonymous SNV P656P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.777 321622 chr17 21094446 21094446 C T rs539921759 DHRS7B Nonsynonymous SNV R305W 0 0.003 0 0 0 1 0 0 0 0 0 0 28 321623 chr15 66416280 66416280 G A rs368136830 MEGF11 Stop gain R53X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 321624 chr16 58018231 58018231 C T rs115991261 TEPP Nonsynonymous SNV T138I 0 0 0.003 0 0 0 0 1 0 0 0 0 26 321625 chr16 58018551 58018551 C G rs146588110 TEPP Synonymous SNV A154A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.925 321626 chr16 58327709 58327709 C T rs142583611 PRSS54 Synonymous SNV A4A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.917 321627 chr16 58521748 58521748 C T rs185755684 NDRG4 Synonymous SNV T42T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.15 321628 chr5 140710338 140710338 G A rs146187959 PCDHGA1 Synonymous SNV G29G 0 0.003 0.003 0 0 1 0 1 0 0 0 0 0.538 321629 chr15 72106407 72106407 A G rs756678889 NR2E3 Nonsynonymous SNV Q350R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.46 321630 chr16 599399 599399 C T rs149821359 CAPN15 Synonymous SNV D590D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 321631 chr16 602502 602502 G T rs57102163 CAPN15 Synonymous SNV P903P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.108 321632 chr5 140773934 140773934 A G rs201573539 PCDHGA8 Synonymous SNV Q518Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 321633 chr16 67196922 67196922 G T rs200909842 FBXL8 Synonymous SNV L108L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.862 321634 chr16 67222707 67222707 T C EXOC3L1 Nonsynonymous SNV Q115R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321635 chr17 26881438 26881438 C T rs61755367 PIGS Nonsynonymous SNV A490T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 321636 chr16 682923 682923 G A rs191430066 WFIKKN1 Synonymous SNV P171P 0 0 0.007 0 0 0 0 2 0 0 1 0 0.123 321637 chr18 33840055 33840055 C T rs750896617 MOCOS Nonsynonymous SNV R776C 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 35 321638 chr7 143079756 143079756 A G rs752388633 ZYX Nonsynonymous SNV K160R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.991 321639 chr16 683616 683616 C T rs116795400 WFIKKN1 Synonymous SNV R402R 0 0 0.01 0 0 0 0 3 0 0 1 0 5.763 321640 chr17 28706446 28706446 A T rs762154184 CPD Nonsynonymous SNV I150F 0 0.003 0 0 0 1 0 0 0 0 0 0 10 321641 chr17 29220449 29220449 A G rs200565863 ATAD5 Synonymous SNV K1526K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.179 321642 chr15 79606163 79606163 A G TMED3 Nonsynonymous SNV Y78C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 321643 chr17 29665736 29665736 - TTA NF1 L2258_K2259insL 0 0.003 0 0 0 1 0 0 0 0 0 0 321644 chr16 68961901 68961901 C G rs61730958 TANGO6 Nonsynonymous SNV T853R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 321645 chr16 69177188 69177188 G A UTP4 Nonsynonymous SNV V129M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 321646 chr16 69177205 69177205 G A rs147375559 UTP4 Synonymous SNV K134K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 321647 chr16 697541 697541 G A rs374379402 MCRIP2 Nonsynonymous SNV E103K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 321648 chr15 83673661 83673661 G C rs1017244046 C15orf40 Nonsynonymous SNV L144V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.595 321649 chr7 144462990 144462990 C T rs77358162 TPK1 Nonsynonymous SNV R33H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 23.3 321650 chr16 712288 712288 G A rs115580724 WDR90 Nonsynonymous SNV V1368M 0 0 0.007 0 0 0 0 2 0 0 1 0 24.1 321651 chr7 149497465 149497465 A G rs770304858 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 321652 chr15 86124820 86124820 C G rs374286995 AKAP13 Nonsynonymous SNV A1174G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.252 321653 chr16 75258788 75258788 C G rs13334993 CTRB1 Nonsynonymous SNV L228V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.731 321654 chr16 75269378 75269378 G A rs16957559 BCAR1 Synonymous SNV T263T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.37 321655 chr7 142583167 142583167 C T rs141313361 TRPV6 Nonsynonymous SNV S72N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 3.259 321656 chr16 76555137 76555137 G A CNTNAP4 Synonymous SNV K693K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.51 321657 chr18 56246866 56246866 A G rs201536117 ALPK2 Nonsynonymous SNV M381T 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 321658 chr16 77233370 77233370 C G rs112674196 SYCE1L Nonsynonymous SNV L8V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.455 321659 chr7 142643353 142643353 C G KEL Nonsynonymous SNV E419Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.9 321660 chr16 789693 789693 C T rs8045850 CIAO3 Nonsynonymous SNV V38M 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 5.306 321661 chr16 80718649 80718649 C T rs144386832 CDYL2 Synonymous SNV T134T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.415 321662 chr7 50530946 50530946 G A rs148472208 DDC Stop gain R398X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28 321663 chr15 91459865 91459865 A G rs1011042717 MAN2A2 Nonsynonymous SNV H1015R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 321664 chr15 93595249 93595249 C T rs576601683 RGMA Nonsynonymous SNV G191S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 321665 chr7 149482572 149482572 C T rs745750585 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 5.846 321666 chr5 167689276 167689276 G A TENM2 Nonsynonymous SNV V2357M 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 321667 chr18 66678308 66678308 A G rs148474279 CCDC102B Synonymous SNV E467E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.593 321668 chr15 98417522 98417526 CCTCC - LINC00923 0 0 0.003 0 0 0 0 1 0 0 0 0 321669 chr15 98417529 98417529 - T LINC00923 0 0 0.003 0 0 0 0 1 0 0 0 0 321670 chr7 1976463 1976463 C T rs755012008 MAD1L1 Nonsynonymous SNV R12H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 321671 chr15 98417530 98417530 A G LINC00923 0 0 0.003 0 0 0 0 1 0 0 0 0 3.928 321672 chr5 169023563 169023563 A G rs140005442 SPDL1 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 24.6 321673 chr5 173534486 173534486 C T rs151227294 NSG2 Nonsynonymous SNV P165L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 321674 chr16 84495354 84495354 C T rs376006699 ATP2C2 Nonsynonymous SNV T688M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 321675 chr7 23391071 23391071 G A rs375685826 IGF2BP3 Nonsynonymous SNV S179F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 321676 chr7 70255532 70255532 C T rs141714268 AUTS2 Synonymous SNV Y1086Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.15 321677 chr5 178455127 178455127 C T rs566204932 ZNF879 Synonymous SNV L85L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.58 321678 chr17 40841014 40841014 G A rs137982413 CNTNAP1 Nonsynonymous SNV R526Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.4 321679 chr17 40939463 40939463 - GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG WNK4 Frameshift insertion P214Gfs*22 0 0.003 0 0 0 1 0 0 0 0 0 0 321680 chr7 17374553 17374553 G T rs201806511 AHR Synonymous SNV T317T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.969 321681 chr17 41165154 41165154 C T rs139469566 IFI35 Nonsynonymous SNV R71W 0 0.003 0 0 0 1 0 0 0 0 0 0 25 321682 chr16 88871264 88871264 A C CDT1 Nonsynonymous SNV E149A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.628 321683 chr16 89234662 89234662 A G rs764660374 LINC02138 0 0 0.003 0 0 0 0 1 0 0 0 0 0.71 321684 chr16 22343410 22343410 C T POLR3E Synonymous SNV S622S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 321685 chr16 23546407 23546407 T A rs1016873400 EARS2 Nonsynonymous SNV T254S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 321686 chr16 2376053 2376053 C T rs199840288 ABCA3 Nonsynonymous SNV V93I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 321687 chr16 89813262 89813262 C G rs768851109 FANCA Nonsynonymous SNV D1129H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.2 321688 chr16 8999138 8999138 T C rs11551182 USP7 Synonymous SNV A477A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.972 321689 chr16 2522070 2522070 G A rs897980809 NTN3 Nonsynonymous SNV R123H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 321690 chr16 904668 904668 C T rs151137164 LMF1 Nonsynonymous SNV R414H 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 23.2 321691 chr17 10705747 10705747 T C rs77892514 TMEM220-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.547 321692 chr16 28944364 28944364 G A rs772346128 CD19 Nonsynonymous SNV R163H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.77 321693 chr7 30793366 30793366 G A rs199553396 INMT Synonymous SNV T57T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.156 321694 chr17 11725786 11725786 A G rs11870983 DNAH9 Nonsynonymous SNV K2961R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 321695 chr17 11725808 11725808 G T rs11871037 DNAH9 Nonsynonymous SNV K2968N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 321696 chr17 11757440 11757440 G T rs116202848 DNAH9 Nonsynonymous SNV A3210S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 321697 chr17 12666721 12666721 C G rs9913758 MYOCD Synonymous SNV G859G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.144 321698 chr7 97820088 97820088 G A rs200739820 LMTK2 Synonymous SNV P349P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 321699 chr17 53150344 53150344 A G rs756962668 STXBP4 Synonymous SNV G365G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.051 321700 chr17 15341332 15341332 C T rs3744332 CDRT4 Nonsynonymous SNV V73I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 321701 chr16 30740437 30740437 G A rs749390013 SRCAP Nonsynonymous SNV G1937S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 321702 chr16 30753212 30753212 C T TMEM265 Synonymous SNV L50L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 321703 chr7 36455415 36455415 A G ANLN Nonsynonymous SNV K482E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.118 321704 chr17 15928412 15928412 C T rs78882347 TTC19 Nonsynonymous SNV P146L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.84 321705 chr17 15961825 15961825 C T rs76555909 NCOR1 Synonymous SNV Q1887Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.17 321706 chr17 16004741 16004741 C G rs61320754 NCOR1 Nonsynonymous SNV G745A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.38 321707 chr8 101717865 101717865 C G PABPC1 Nonsynonymous SNV A547P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 321708 chr7 50436031 50436031 G A rs922355666 IKZF1 Nonsynonymous SNV R163H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.042 321709 chr17 58236653 58236653 T C rs142961963 CA4 Synonymous SNV N269N 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.049 321710 chr17 17696400 17696400 C T rs115379597 RAI1 Synonymous SNV L46L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.3 321711 chr17 17696526 17696526 G A rs61999281 RAI1 Synonymous SNV Q88Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.006 321712 chr17 17698089 17698089 C T rs78165774 RAI1 Synonymous SNV S609S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.16 321713 chr17 17698156 17698156 C T rs61736754 RAI1 Synonymous SNV L632L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.213 321714 chr17 17701242 17701242 G T rs114118087 RAI1 Synonymous SNV P1660P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.892 321715 chr16 3729729 3729729 C T rs554176042 TRAP1 Synonymous SNV S125S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 321716 chr17 18054222 18054222 G A rs16960959 MYO15A Nonsynonymous SNV A2490T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.679 321717 chr17 18067073 18067073 G A rs115393178 MYO15A Synonymous SNV V3236V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.61 321718 chr5 59901557 59901557 T G rs374146430 DEPDC1B Nonsynonymous SNV E342A 0 0.003 0 0 0 1 0 0 0 0 0 0 22 321719 chr17 18136099 18136099 C T rs113943896 LLGL1 Synonymous SNV P125P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.62 321720 chr17 61564428 61564428 G A rs148995315 ACE Nonsynonymous SNV E193K 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 34 321721 chr7 55468911 55468911 A C rs200782197 LANCL2 Nonsynonymous SNV E241D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 321722 chr17 18181176 18181176 G A rs34098037 TOP3A Synonymous SNV H785H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.749 321723 chr17 62038745 62038745 G A rs201199086 SCN4A Synonymous SNV C551C 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.85 321724 chr17 18785883 18785883 C T rs80293494 PRPSAP2 Synonymous SNV L99L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 321725 chr16 4516262 4516262 G A rs375433527 NMRAL1 Nonsynonymous SNV R141W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 321726 chr8 106813586 106813586 G A rs35843564 ZFPM2 Nonsynonymous SNV A373T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.769 321727 chr17 21201750 21201750 A C rs148435923 MAP2K3 Synonymous SNV L25L 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.059 321728 chr17 21202235 21202235 C A rs75306459 MAP2K3 Nonsynonymous SNV D25E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.64 321729 chr7 70231185 70231185 C T rs761323917 AUTS2 Synonymous SNV P518P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 321730 chr16 53706889 53706889 C A RPGRIP1L Nonsynonymous SNV A308S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 321731 chr16 53706890 53706890 C A RPGRIP1L Nonsynonymous SNV M307I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.38 321732 chr8 121021315 121021315 G A rs142466508 DEPTOR Synonymous SNV K247K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.74 321733 chr7 51096774 51096774 T C COBL Synonymous SNV E673E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 321734 chr17 21319342 21319342 G A rs111766997 KCNJ12, KCNJ18 Nonsynonymous SNV A230T 0 0 0.003 0 0 0 0 1 0 0 0 0 30 321735 chr17 21438575 21438577 AAG - rs557619705 LINC02693 0 0 0.003 0 0 0 0 1 0 0 0 0 321736 chr6 109703459 109703459 G A rs747990184 CD164 Synonymous SNV N41N 0.002 0 0 0 2 0 0 0 0 0 0 0 8.639 321737 chr17 26370214 26370214 A G rs748919262 NLK Synonymous SNV P105P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.441 321738 chr8 13425254 13425254 C G C8orf48 Nonsynonymous SNV P252A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 321739 chr16 57931441 57931441 C T CNGB1 Synonymous SNV L1028L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 321740 chr17 27185169 27185169 A G rs139024598 ERAL1 Nonsynonymous SNV H180R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 321741 chr17 27829701 27829701 G A rs146410053 TAOK1 Nonsynonymous SNV R433H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 321742 chr17 28270639 28270639 G A rs138327377 EFCAB5 Synonymous SNV E54E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.515 321743 chr5 79854332 79854332 A G ANKRD34B Synonymous SNV L503L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.294 321744 chr17 29214251 29214251 G A rs147173516 ATAD5 Synonymous SNV E1373E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.68 321745 chr17 29302727 29302727 C T DPRXP4 0 0 0.003 0 0 0 0 1 0 0 0 0 5.38 321746 chr17 30228590 30228590 C T rs78272471 UTP6 Synonymous SNV L19L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.19 321747 chr16 67709178 67709178 G A rs745342956 GFOD2 Synonymous SNV S346S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.423 321748 chr7 75178283 75178283 C T HIP1 Nonsynonymous SNV G771E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 321749 chr8 135614140 135614140 C G ZFAT Nonsynonymous SNV A546P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 321750 chr5 87536712 87536712 C A TMEM161B Nonsynonymous SNV V9F 0 0.003 0 0 0 1 0 0 0 0 0 0 34 321751 chr17 32646542 32646542 C T rs34918489 CCL8 Synonymous SNV L8L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.413 321752 chr17 32646561 32646561 C T rs35401229 CCL8 Nonsynonymous SNV A14V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.226 321753 chr17 74039945 74039945 T C rs115675693 SRP68 Nonsynonymous SNV N158D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.394 321754 chr17 74068509 74068509 - GCCGCCGCCGCC SRP68 G21_S22insGGGG 0 0.003 0 0 0 1 0 0 0 0 0 0 321755 chr17 74068513 74068513 - CTGCCG SRP68 G23_G24insSG 0 0.003 0 0 0 1 0 0 0 0 0 0 321756 chr17 74081829 74081829 C T rs115678402 EXOC7 Synonymous SNV V484V 0 0.003 0 0 0 1 0 0 0 0 0 0 16.77 321757 chr8 142231858 142231858 G A rs141335753 SLC45A4 Nonsynonymous SNV P32L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 321758 chr8 142264261 142264261 G A rs781635172 SLC45A4 Nonsynonymous SNV P23L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 321759 chr8 144696542 144696542 G A rs374968268 TSTA3 Synonymous SNV I188I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.49 321760 chr17 34304605 34304605 C T rs79254649 CCL16 Synonymous SNV Q120Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.503 321761 chr17 34310761 34310761 G A rs865779088 CCL15-CCL14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.824 321762 chr17 35345846 35345846 C T rs73286003 AATF Synonymous SNV L326L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.434 321763 chr17 3560053 3560053 - A rs1057516993 CTNS Frameshift insertion T216Nfs*12 0 0 0.007 0 0 0 0 2 0 0 1 0 321764 chr17 3635760 3635760 G T rs775990702 ITGAE Nonsynonymous SNV P886T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 321765 chr17 36476535 36476535 C T rs765996581 MRPL45 Nonsynonymous SNV R182C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 321766 chr8 144945696 144945696 C T rs781948875 EPPK1 Nonsynonymous SNV E576K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.554 321767 chr17 36485532 36485532 C T rs113125028 GPR179 Nonsynonymous SNV R1307Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 321768 chr17 36487412 36487412 G A rs111770829 GPR179 Synonymous SNV D680D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.036 321769 chr17 36491084 36491084 G A rs114716738 GPR179 Nonsynonymous SNV R493C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 321770 chr16 74729292 74729292 T C rs370897232 MLKL Nonsynonymous SNV M122V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.001 321771 chr17 36889541 36889541 G A rs144751268 CISD3 Nonsynonymous SNV G73S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 321772 chr17 37074869 37074869 C T rs8073093 LASP1 Synonymous SNV R152R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.13 321773 chr17 37321347 37321347 G A rs9912267 ARL5C Nonsynonymous SNV T31I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 321774 chr17 37791894 37791894 A G rs34257414 PPP1R1B Synonymous SNV E124E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.775 321775 chr7 94039604 94039604 G A rs200284501 COL1A2 Synonymous SNV E362E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.49 321776 chr17 37863268 37863268 G A rs4252610 ERBB2 Synonymous SNV L33L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.43 321777 chr17 37872035 37872035 G T rs4252633 ERBB2 Nonsynonymous SNV W452C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.6 321778 chr8 10622924 10622926 TTC - rs201660183 PINX1 K325del 0.001 0 0 0 1 0 0 0 0 0 0 0 321779 chr17 38028635 38028635 T C rs61737283 ZPBP2 Synonymous SNV S151S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.535 321780 chr17 38122591 38122591 C T rs140044904 GSDMA Nonsynonymous SNV T98M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 321781 chr17 38130677 38130677 C T rs114577902 GSDMA Synonymous SNV L301L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 321782 chr17 38185192 38185192 C T rs146489775 MED24 Synonymous SNV P419P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 321783 chr17 38253469 38253469 G A rs9905506 NR1D1 Synonymous SNV P73P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.783 321784 chr17 38556533 38556533 T C rs34273139 TOP2A Synonymous SNV K976K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.654 321785 chr17 79225382 79225382 G C rs749589012 SLC38A10 Nonsynonymous SNV P659R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 321786 chr19 10475421 10475421 C T rs56212434 TYK2 Synonymous SNV A412A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.39 321787 chr19 10793272 10793272 G A ILF3 Synonymous SNV E480E 0 0 0 1 0 0 0.003 0 0 0 0 0 9.381 321788 chr16 84691070 84691070 G A rs767689406 KLHL36 Synonymous SNV T219T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 321789 chr17 39186254 39186254 T G rs575093773 KRTAP1-4 Nonsynonymous SNV Q26P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 321790 chr17 39296553 39296553 G A rs73983172 KRTAP4-6 Nonsynonymous SNV P63S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.401 321791 chr17 39382950 39382950 G A rs144662088 KRTAP9-2 Nonsynonymous SNV R15K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 321792 chr17 39411937 39411937 T C rs550703790 KRTAP9-9 Synonymous SNV C100C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 321793 chr17 39411938 39411938 G T rs569192375 KRTAP9-9 Nonsynonymous SNV G101C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 321794 chr17 39411944 39411944 A C rs539568748 KRTAP9-9 Nonsynonymous SNV S103R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.148 321795 chr19 12958829 12958829 C T rs750213872 MAST1 Synonymous SNV Y244Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.348 321796 chr17 39411945 39411945 G C rs558206578 KRTAP9-9 Nonsynonymous SNV S103T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321797 chr19 12995808 12995808 G C rs778995946 KLF1 Nonsynonymous SNV T327S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 321798 chr17 39421807 39421807 A T rs576146440 KRTAP9-6 Nonsynonymous SNV T60S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321799 chr17 39421920 39421920 C A rs144591108 KRTAP9-6 Synonymous SNV G97G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.31 321800 chr17 39422025 39422025 C A rs12938150 KRTAP9-6 Synonymous SNV L132L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.308 321801 chr17 39422030 39422030 A T rs146200773 KRTAP9-6 Nonsynonymous SNV Q134L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 321802 chr18 2890716 2890716 G A rs200834200 EMILIN2 Synonymous SNV T197T 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Benign 13.36 321803 chr18 2939544 2939544 C T rs570485374 LPIN2 Synonymous SNV A252A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.09 321804 chr18 2951245 2951245 T C LPIN2 Nonsynonymous SNV Q133R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.41 321805 chr17 39521726 39521726 T C rs61741663 KRT33B Nonsynonymous SNV Q223R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 321806 chr17 39521752 39521752 G A rs61741664 KRT33B Synonymous SNV D214D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.899 321807 chr8 11157585 11157585 T G MTMR9 Synonymous SNV P115P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 321808 chr17 39661599 39661599 G T rs113547405 KRT13 Synonymous SNV G68G 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 0.524 321809 chr8 17812998 17812998 C T rs368336520 PCM1 Synonymous SNV V436V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 16.27 321810 chr17 39881003 39881003 C T rs34044330 HAP1 Nonsynonymous SNV G587R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.77 321811 chr17 39890691 39890691 T C rs77781133 HAP1 Nonsynonymous SNV T66A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.037 321812 chr16 88930743 88930743 G A rs778539389 PABPN1L Nonsynonymous SNV T204I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.129 321813 chr17 39992120 39992120 G A rs782685099 NT5C3B Synonymous SNV D34D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.25 321814 chr17 40001545 40001545 C T rs781811733 KLHL10 Synonymous SNV T196T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 321815 chr17 40263812 40263812 C T rs138551955 DHX58 Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 16 321816 chr16 89293140 89293140 G A rs199645971 ZNF778 Synonymous SNV T120T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.86 321817 chr17 40839944 40839944 G A rs34596553 CNTNAP1 Synonymous SNV G417G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.74 321818 chr17 41059631 41059631 G A rs161628 G6PC Nonsynonymous SNV D119N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.903 321819 chr8 131848635 131848635 A C ADCY8 Nonsynonymous SNV S855A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.82 321820 chr17 41168330 41168330 G A rs34662595 VAT1 Synonymous SNV F364F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 321821 chr18 13884672 13884672 C T rs937134835 MC2R Synonymous SNV E282E 0 0.003 0 0 0 1 0 0 0 0 0 0 7.823 321822 chr17 41477337 41477337 G A rs148824656 ARL4D Synonymous SNV G79G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.436 321823 chr17 42018541 42018541 T C rs7215698 PPY Nonsynonymous SNV E84G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.7 321824 chr19 16678888 16678888 G A rs145867179 SLC35E1 Synonymous SNV L195L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.2 321825 chr18 32400816 32400816 G A rs780636786 DTNA Nonsynonymous SNV R63H 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 321826 chr17 45384910 45384910 C T rs73322311 ITGB3 Synonymous SNV A736A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.6 321827 chr17 45479497 45479497 - A rs138059918 EFCAB13 0 0 0.003 0 0 0 0 1 0 0 0 0 321828 chr17 45776034 45776034 A G rs111404604 TBKBP1 Nonsynonymous SNV Q176R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 321829 chr17 45776080 45776080 T G rs112370610 TBKBP1 Synonymous SNV P191P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.093 321830 chr8 39103660 39103660 G T ADAM32 Nonsynonymous SNV C527F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 321831 chr8 53073984 53073984 G C rs141559940 ST18 Synonymous SNV R515R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.213 321832 chr18 43319528 43319528 T C rs748224982 SLC14A1 Nonsynonymous SNV F151L 0 0.003 0 0 0 1 0 0 0 0 0 0 6.813 321833 chr17 47004454 47004454 A C rs145854510 UBE2Z Synonymous SNV S341S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.459 321834 chr8 30038133 30038133 C T rs758676833 DCTN6 Nonsynonymous SNV T154I 0.002 0 0 0 2 0 0 0 0 0 0 0 22.2 321835 chr17 48184222 48184222 C T rs139205712 PDK2 Synonymous SNV N130N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 321836 chr17 48249478 48249478 G T rs79284438 HILS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.156 321837 chr17 17700635 17700635 T C RAI1 Nonsynonymous SNV L1458P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.049 321838 chr17 48447399 48447399 A C rs9911773 MRPL27 Synonymous SNV G78G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.299 321839 chr17 48447928 48447928 G A rs16948948 MRPL27 Synonymous SNV P20P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.478 321840 chr17 48452714 48452714 A G rs9896405 EME1 Nonsynonymous SNV I49V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.018 321841 chr17 48541256 48541256 C T rs768330040 ACSF2 Nonsynonymous SNV S215L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 321842 chr18 55270140 55270140 G A rs372084125 NARS1 Synonymous SNV D429D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.63 321843 chr19 20002909 20002909 A C rs187512338 ZNF253 Nonsynonymous SNV K209Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 321844 chr8 146076668 146076668 C G COMMD5 Nonsynonymous SNV S19T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.289 321845 chr8 41791282 41791282 C T rs749288411 KAT6A Nonsynonymous SNV V1486I 0.002 0 0 0 2 0 0 0 0 0 0 0 23 321846 chr8 70964522 70964522 G A rs141969357 PRDM14 Synonymous SNV S502S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 321847 chr8 71581328 71581328 G C rs144249335 LACTB2 Nonsynonymous SNV R10G 0.001 0 0 0 1 0 0 0 0 0 0 0 24 321848 chr17 54969328 54969328 G A rs137888736 TRIM25 Synonymous SNV L542L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 321849 chr17 56164505 56164505 A G DYNLL2 Synonymous SNV Q18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.426 321850 chr8 75929667 75929667 A T rs750718806 CRISPLD1 Nonsynonymous SNV N184I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 321851 chr6 18264177 18264177 G A rs139139549 DEK Synonymous SNV P14P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.368 321852 chr8 6312736 6312736 C T rs542683341 MCPH1 Nonsynonymous SNV P633L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.2 321853 chr17 26554388 26554388 C T rs757466670 PYY2 0 0 0.003 0 0 0 0 1 0 0 0 0 9.911 321854 chr8 145661378 145661378 C T rs764157798 TONSL Nonsynonymous SNV G813D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.149 321855 chr8 99718735 99718735 G A rs761304300 STK3 Nonsynonymous SNV A215V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 321856 chr17 6331762 6331762 G A rs8069375 AIPL1 Nonsynonymous SNV T54I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.92 321857 chr8 23191060 23191060 T G rs376096328 LOXL2 Nonsynonymous SNV S274R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 321858 chr8 24253302 24253302 G A rs148571165 ADAMDEC1 Nonsynonymous SNV G66R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 321859 chr17 6386992 6386992 G A rs149039090 PITPNM3 Synonymous SNV A108A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.313 321860 chr17 6493199 6493199 G A rs149782904 KIAA0753 Stop gain Q597X 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 36 321861 chr19 621311 621311 A C rs773334163 POLRMT Nonsynonymous SNV L796R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 321862 chr17 67273885 67273885 C T rs138563637 ABCA5 Nonsynonymous SNV A831T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.6 321863 chr17 70645080 70645080 A G rs776904543 SLC39A11 Nonsynonymous SNV M271T 0 0 0.003 0 0 0 0 1 0 0 0 0 27 321864 chr17 34251717 34251717 C T rs373207074 RDM1 Synonymous SNV P130P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 321865 chr6 36949365 36949365 G A rs753018828 MTCH1 Synonymous SNV Y135Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.611 321866 chr17 72588213 72588213 C T rs112399930 C17orf77 Synonymous SNV L10L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.932 321867 chr9 106885507 106885507 A G rs201775203 SMC2 Nonsynonymous SNV T751A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 321868 chr17 72920747 72920747 A G rs369382708 OTOP2 Nonsynonymous SNV Q7R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.93 321869 chr8 53084404 53084404 C T rs146765686 ST18 Synonymous SNV R339R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 321870 chr8 55541903 55541903 A G rs986935075 RP1 Nonsynonymous SNV M1821V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.311 321871 chr19 1483345 1483345 G C PCSK4 Synonymous SNV R503R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.859 321872 chr17 73100243 73100243 C T rs61744015 SLC16A5 Synonymous SNV D444D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 321873 chr17 73124925 73124925 G A rs113871549 ARMC7 Nonsynonymous SNV R130H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.034 321874 chr17 73235600 73235600 - GGT rs150787028 GGA3 T423_P424insT 0 0 0.003 0 0 0 0 1 0 0 0 0 321875 chr19 2252712 2252712 A C rs184765023 JSRP1 Nonsynonymous SNV S204R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 321876 chr17 73748601 73748601 G A rs769852038 ITGB4 Nonsynonymous SNV D1351N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 321877 chr19 40719909 40719909 - CCCCCCCC MAP3K10 Frameshift insertion S779Hfs*46 0 0 0 1 0 0 0.003 0 0 0 0 0 321878 chr17 73830745 73830745 C T rs145366134 UNC13D Nonsynonymous SNV R682H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 321879 chr17 73871179 73871179 G A rs770445702 TRIM47 Synonymous SNV S434S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.243 321880 chr8 69033258 69033258 C A PREX2 Nonsynonymous SNV A1233D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 321881 chr17 73910365 73910365 C T rs374332434 FBF1 Synonymous SNV L943L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.439 321882 chr17 73914084 73914084 C T rs373165441 FBF1 Nonsynonymous SNV V772M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 321883 chr19 3492394 3492394 G A rs553950608 DOHH Nonsynonymous SNV P152L 0 0.003 0 0 0 1 0 0 0 0 0 0 26 321884 chr17 74001522 74001522 - CA rs746635016 TEN1-CDK3 0 0 0.003 0 0 0 0 1 0 0 0 0 321885 chr9 114174413 114174413 T A rs375619270 ECPAS Nonsynonymous SNV S699C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 321886 chr8 39114777 39114777 A G rs201527858 ADAM32 Nonsynonymous SNV I594V 0.002 0 0.003 0 2 0 0 1 0 0 0 0 0.001 321887 chr6 48036358 48036358 T G PTCHD4 Nonsynonymous SNV S12R 0 0.003 0 0 0 1 0 0 0 0 0 0 12.86 321888 chr17 74449161 74449161 G A rs1047067806 UBE2O Synonymous SNV A21A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.922 321889 chr8 42693210 42693210 T C rs769746038 THAP1 Synonymous SNV K179K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.742 321890 chr17 75878090 75878090 A G rs75027882 LINC01973 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 321891 chr17 76047249 76047249 G A rs34587560 TNRC6C Synonymous SNV K702K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.715 321892 chr8 87567198 87567198 C T rs781427442 CPNE3 Stop gain Q414X 0.001 0 0 0 1 0 0 0 0 0 0 0 43 321893 chr17 76475140 76475140 G A rs61199521 DNAH17 Synonymous SNV V2653V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.122 321894 chr8 66635820 66635820 G A rs148083866 PDE7A Nonsynonymous SNV P400L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 321895 chr8 95869160 95869160 C T rs779300857 INTS8 Synonymous SNV S636S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.83 321896 chr8 70744901 70744901 T A SLCO5A1 Nonsynonymous SNV E3V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.51 321897 chr17 77015454 77015454 G A rs61062253 C1QTNF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.603 321898 chr17 77081408 77081408 G C rs114968464 ENGASE Nonsynonymous SNV G562R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.824 321899 chr6 64395702 64395702 C T rs41271585 PHF3 Synonymous SNV N605N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.22 321900 chr17 7750758 7750758 G A rs143694570 KDM6B Synonymous SNV P415P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.478 321901 chr19 5733918 5733918 T C rs368323370 CATSPERD Synonymous SNV L110L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.008 321902 chr17 77914665 77914665 C T rs140818887 TBC1D16 Nonsynonymous SNV R391H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 321903 chr17 43005874 43005874 C T rs199951508 KIF18B Nonsynonymous SNV R611Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.266 321904 chr17 43011689 43011689 G A rs775387475 KIF18B Nonsynonymous SNV A266V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 321905 chr17 78261854 78261854 G A rs111369726 RNF213 Nonsynonymous SNV E168K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.85 321906 chr6 7542292 7542292 C T rs774504686 DSP Synonymous SNV I48I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.18 321907 chr17 78321862 78321862 A G rs112401479 RNF213 Nonsynonymous SNV T3243A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.065 321908 chr17 78358958 78358958 C G rs61746605 RNF213 Nonsynonymous SNV S4814R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.625 321909 chr19 7626140 7626140 C T rs748560638 PNPLA6 Synonymous SNV P1320P 0 0.003 0 0 0 1 0 0 0 0 0 0 12.17 321910 chr19 8032634 8032634 C T rs149337587 ELAVL1 Synonymous SNV R157R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.94 321911 chr17 4645669 4645669 C T rs117858568 ZMYND15 Nonsynonymous SNV R343W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 321912 chr17 46628465 46628470 CCGCCG - rs755674446 HOXB3 G177_G178del 0 0 0.003 0 0 0 0 1 0 0 0 0 321913 chr17 79495576 79495576 C T rs782450097 FSCN2 Nonsynonymous SNV H7Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 321914 chr17 79660950 79660950 G T rs34340361 HGS Synonymous SNV S297S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.522 321915 chr17 80352296 80352297 CT - rs572382964 OGFOD3 R316Gfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 321916 chr17 8053890 8053890 G A rs3027176 PER1 Synonymous SNV T45T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.914 321917 chr17 80972329 80972329 C T rs146876805 B3GNTL1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 321918 chr17 8701146 8701146 C T rs143533922 MFSD6L Synonymous SNV T431T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.873 321919 chr17 8701701 8701701 A G rs16957601 MFSD6L Synonymous SNV F246F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.344 321920 chr17 8702190 8702190 G A rs137886464 MFSD6L Synonymous SNV S83S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.741 321921 chr9 111698602 111698602 C T rs1050266328 ABITRAM Nonsynonymous SNV T49I 0.001 0 0 0 1 0 0 0 0 0 0 0 31 321922 chr9 138588567 138588567 A G SOHLH1 Synonymous SNV L184L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.078 321923 chr18 10485503 10485503 A G rs61741632 APCDD1 Synonymous SNV S273S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.749 321924 chr19 9063675 9063675 G A rs201509856 MUC16 Nonsynonymous SNV T7924M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.605 321925 chr18 1359610 1359610 C T rs58000912 LINC00470 0 0 0.003 0 0 0 0 1 0 0 0 0 3.544 321926 chr9 139618025 139618025 C T rs375792459 DIPK1B Synonymous SNV N365N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 321927 chr9 139618070 139618070 C G DIPK1B Synonymous SNV G380G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 321928 chr19 50666058 50666058 A C rs778573314 IZUMO2 Nonsynonymous SNV L82R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 321929 chr19 50666406 50666406 G T IZUMO2 Nonsynonymous SNV P16T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 321930 chr9 139734633 139734635 AGA - rs145591109 RABL6 K661del 0.001 0 0 0 1 0 0 0 0 0 0 0 321931 chr9 139889895 139889895 C T rs199992644 CLIC3 Nonsynonymous SNV D90N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 321932 chr18 2890768 2890768 G A rs16943977 EMILIN2 Nonsynonymous SNV A215T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.016 321933 chr18 28926056 28926056 G T rs35360042 DSG1 Nonsynonymous SNV M665I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.64 321934 chr18 28956895 28956895 A G rs75549650 DSG4 Synonymous SNV R7R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 321935 chr18 28972153 28972153 G A rs35210710 DSG4 Synonymous SNV S285S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.81 321936 chr18 29691848 29691848 A G rs7229690 RNF138 Nonsynonymous SNV K81R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.771 321937 chr18 30969550 30969550 C T rs755250776 CCDC178 Synonymous SNV K54K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.957 321938 chr9 140373603 140373603 T G PNPLA7 Nonsynonymous SNV T865P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 321939 chr18 34273314 34273314 C T rs7238035 FHOD3 Nonsynonymous SNV P530S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.63 321940 chr18 34366853 34366853 T C rs631217 TPGS2 Nonsynonymous SNV T283A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.003 321941 chr19 11917991 11917991 A G rs146096736 ZNF491 Nonsynonymous SNV E408G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 321942 chr18 43532570 43532570 G A rs148098259 EPG5 Nonsynonymous SNV R350C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 27.5 321943 chr18 44149569 44149569 C A rs35727744 LOXHD1 Nonsynonymous SNV D694Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.1 321944 chr18 44159660 44159660 A G rs35007621 LOXHD1 Nonsynonymous SNV V581A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.04 321945 chr19 14000371 14000371 C T C19orf57 Nonsynonymous SNV G315E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.775 321946 chr9 131847047 131847047 G A rs774871437 DOLPP1 Synonymous SNV T59T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 321947 chr18 47918536 47918536 C T rs16951872 SKA1 Synonymous SNV H229H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 321948 chr18 48190496 48190496 C T MAPK4 Synonymous SNV A56A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 321949 chr17 72926822 72926822 G T rs150890021 OTOP2 Synonymous SNV T364T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 321950 chr7 127950952 127950952 C T rs143664352 RBM28 Synonymous SNV T585T 0.002 0.003 0 0 2 1 0 0 0 0 0 0 19.59 321951 chr9 134504548 134504548 C T rs41297229 RAPGEF1 Synonymous SNV T278T 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 9.99 321952 chr9 19350759 19350759 G A DENND4C Synonymous SNV E1410E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 321953 chr18 6243308 6243308 G A rs28568277 L3MBTL4 Synonymous SNV L149L 0 0.003 0.003 0 0 1 0 1 0 0 0 0 9.039 321954 chr9 6499894 6499894 G A rs138665792 UHRF2 Synonymous SNV K656K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 321955 chr18 677865 677865 T C rs182625199 ENOSF1 Nonsynonymous SNV N280S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 321956 chr18 693888 693888 C T rs34454509 ENOSF1 Nonsynonymous SNV G149R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 321957 chr9 137714849 137714849 G A COL5A1 Synonymous SNV P1538P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 3.192 321958 chr18 72114477 72114477 G A rs61737652 DIPK1C Synonymous SNV C80C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.458 321959 chr17 74732624 74732624 G A rs377064670 MIR636 0 0 0.003 0 0 0 0 1 0 0 0 0 16.36 321960 chr17 75208263 75208263 A C rs771941198 SEC14L1 Nonsynonymous SNV K581Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.95 321961 chr9 136268934 136268934 T C rs35283679 STKLD1 Nonsynonymous SNV W529R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 321962 chr18 74153775 74153775 C T rs115344162 ZNF516 Synonymous SNV P412P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 321963 chr9 35810991 35810991 G A rs147507991 SPAG8 Stop gain R310X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 39 321964 chr17 7608944 7608944 G A rs753058774 EFNB3 Nonsynonymous SNV G10S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 321965 chr9 139390805 139390805 G A rs369470875 NOTCH1 Synonymous SNV P2462P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.149 321966 chr17 76130523 76130523 C T rs370405566 TMC8 Nonsynonymous SNV R289W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 321967 chr19 17763470 17763475 TCTCCT - rs753075228 UNC13A G469_E470del 0 0.003 0 0 0 1 0 0 0 0 0 0 321968 chr18 77475368 77475368 C T rs143177926 CTDP1 Synonymous SNV D517D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.148 321969 chr9 71152201 71152201 C T rs141633262 TMEM252 Nonsynonymous SNV A163T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 15.36 321970 chr19 10149072 10149072 A G rs116796353 MIR5589 0 0 0.003 0 0 0 0 1 0 0 0 0 0.194 321971 chr19 10157427 10157427 A G rs116673803 C3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.154 321972 chr9 139273451 139273451 G A rs377614654 SNAPC4 Nonsynonymous SNV P943L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.127 321973 chr19 10367404 10367404 G A rs143363894 MRPL4 Synonymous SNV T116T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 321974 chr19 10404394 10404394 G A rs10418913 ICAM5 Nonsynonymous SNV V496M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.97 321975 chr9 139292751 139292751 C T rs7031489 SNAPC4 Nonsynonymous SNV D44N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 321976 chr9 140138624 140138624 G A rs116133305 FAM166A Synonymous SNV P288P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.449 321977 chr9 139369825 139369825 T G rs201466249 SEC16A Nonsynonymous SNV Y748S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.062 321978 chr9 139370829 139370829 G A rs114386206 SEC16A Synonymous SNV P413P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.782 321979 chr9 139418204 139418204 G A rs187473846 NOTCH1 Nonsynonymous SNV T123M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 22.6 321980 chr17 78305823 78305823 G T RNF213 Nonsynonymous SNV A1179S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.306 321981 chr17 7830685 7830685 G A rs199562815 KCNAB3 Synonymous SNV T127T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 321982 chr19 20229469 20229469 A G rs782451483 ZNF90 Nonsynonymous SNV Y369C 0 0.003 0 0 0 1 0 0 0 0 0 0 16.47 321983 chr19 11034813 11034813 C A rs114318130 YIPF2 Synonymous SNV L141L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 321984 chr19 11107035 11107035 A G rs114391904 SMARCA4 Synonymous SNV K580K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.163 321985 chr19 1111064 1111064 G A rs61738770 SBNO2 Synonymous SNV G889G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.972 321986 chr9 79635611 79635611 G A FOXB2 Synonymous SNV P347P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 321987 chr19 21719369 21719369 C A rs368856212 ZNF429 Nonsynonymous SNV P108T 0 0.003 0 0 0 1 0 0 0 0 0 0 2.665 321988 chr19 11548771 11548771 C A rs144001882 PRKCSH Synonymous SNV R91R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 321989 chr19 11727700 11727700 C G rs61746712 ZNF627 Nonsynonymous SNV P18A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 321990 chr19 12691634 12691634 C T rs73497762 ZNF490 Nonsynonymous SNV E419K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 321991 chr19 1270232 1270233 CC - rs377634662 CIRBP-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 321992 chr19 1272291 1272291 G A rs143205001 CIRBP Nonsynonymous SNV G248D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.087 321993 chr9 14868763 14868763 C T FREM1 Synonymous SNV R71R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 321994 chr19 33229823 33229823 C T rs767866241 TDRD12 Nonsynonymous SNV T82M 0 0.003 0 0 0 1 0 0 0 0 0 0 1.147 321995 chr19 33353449 33353449 G A rs142766345 SLC7A9 Synonymous SNV S174S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 2.618 321996 chr19 1360149 1360149 G A rs147961437 PWWP3A Nonsynonymous SNV V9I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.399 321997 chr19 33450806 33450806 C T rs73926195 CEP89 Nonsynonymous SNV R102Q 0 0.003 0 0 0 1 0 0 0 0 0 0 16.14 321998 chr19 13988558 13988558 - GAGGAG rs879424983 NANOS3 G171_A172insGG 0 0 0.003 0 0 0 0 1 0 0 0 0 321999 chr19 14157386 14157386 A G rs143665603 IL27RA Nonsynonymous SNV N366S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 322000 chr19 33609941 33609941 G A rs558082752 GPATCH1 Synonymous SNV P813P 0 0.003 0 0 0 1 0 0 0 0 0 0 7.603 322001 chr19 33666345 33666345 C A rs77589178 WDR88 Nonsynonymous SNV T429N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.019 322002 chr19 14512502 14512502 C T rs61733711 ADGRE5 Synonymous SNV N278N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.91 322003 chr19 14520187 14520187 C T rs61406319 DDX39A Synonymous SNV G349G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 322004 chr19 14522323 14522323 C T rs36127505 DDX39A Nonsynonymous SNV V142I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 322005 chr19 35250304 35250304 G A rs749261191 ZNF599 Stop gain R468X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 322006 chr19 1467770 1467770 C T rs265272 APC2 Synonymous SNV D1489D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 322007 chr19 1470021 1470021 T G rs265277 APC2 Nonsynonymous SNV S2240A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322008 chrX 107169378 107169378 A G rs374970570 MID2 Nonsynonymous SNV N551S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 322009 chr19 14857067 14857067 T G rs57865820 ADGRE2 Nonsynonymous SNV E662D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 322010 chrX 107320560 107320560 G A rs770738059 VSIG1 Synonymous SNV G371G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.091 322011 chrX 108625393 108625393 A C rs773550329 GUCY2F Nonsynonymous SNV L1035R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 322012 chrX 140994031 140994031 G T rs176044 MAGEC1 Nonsynonymous SNV V281L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 322013 chr19 1506212 1506212 G A rs760789576 ADAMTSL5 Synonymous SNV R406R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 322014 chr18 21057210 21057210 G A rs33969048 RIOK3 Nonsynonymous SNV R425Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 322015 chr19 15197898 15197898 G A rs73522019 OR1I1 Nonsynonymous SNV E8K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 322016 chr19 15198241 15198241 G A rs75278395 OR1I1 Nonsynonymous SNV R122H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 322017 chr18 21338447 21338447 C T rs200144011 LAMA3 Synonymous SNV A345A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 322018 chr19 15198551 15198551 C T rs16980310 OR1I1 Synonymous SNV V225V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.405 322019 chr19 1529458 1529458 C T rs73521412 PLK5 Synonymous SNV V153V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 322020 chr19 15580191 15580191 G A rs10417763 PGLYRP2 Synonymous SNV F631F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.762 322021 chr19 15586711 15586711 G T rs28404490 PGLYRP2 Nonsynonymous SNV T257N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322022 chr19 15640612 15640612 G A rs145640942 CYP4F22 Synonymous SNV P105P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 322023 chr18 28737502 28737502 T A rs144414179 DSC1 Synonymous SNV L61L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 322024 chr19 15852594 15852594 T A rs149133792 OR10H3 Nonsynonymous SNV L131Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 322025 chr19 16006370 16006370 G T rs144455532 CYP4F2 Nonsynonymous SNV P97T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.847 322026 chr19 16590030 16590030 C A rs140290452 CALR3 Nonsynonymous SNV R356L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 322027 chrX 14883126 14883126 A G rs149609970 FANCB Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.004 322028 chr7 31617626 31617626 C T rs748849900 ITPRID1 Stop gain R250X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 322029 chr19 17120131 17120131 C G CPAMD8 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 322030 chr19 17394981 17394981 G A rs35494355 ANKLE1 Nonsynonymous SNV A391T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.44 322031 chr19 17396557 17396557 C G rs141089836 ANKLE1 Nonsynonymous SNV S498C 0 0 0.003 0 0 0 0 1 0 0 0 0 26 322032 chrX 153039933 153039933 C T rs782134820 PLXNB3 Nonsynonymous SNV P1246L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.94 322033 chr19 17452053 17452053 C G rs149578279 GTPBP3 Nonsynonymous SNV P424R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.11 322034 chr19 39055762 39055762 - GGGCGC rs776979677 RYR1 A4262_A4263insGA 0 0.003 0 0 0 1 0 0 0 0 0 0 322035 chr19 39227973 39227973 C T CAPN12 Synonymous SNV E395E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 322036 chr19 39380365 39380365 G A rs769837989 SIRT2 Synonymous SNV F95F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.38 322037 chr19 39423330 39423332 AGA - rs563094654 MRPS12 K138del 0 0.003 0 0 0 1 0 0 0 0 0 0 322038 chr19 18084724 18084724 C T rs77030907 KCNN1 Synonymous SNV S9S 0 0 0.007 0 0 0 0 2 0 0 0 0 15.67 322039 chr19 18084775 18084775 G A rs75754669 KCNN1 Synonymous SNV P26P 0 0 0.007 0 0 0 0 2 0 0 0 0 8.599 322040 chr19 40096000 40096000 G A rs772592629 LGALS13 Nonsynonymous SNV C92Y 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.002 322041 chr7 44579486 44579486 G C NPC1L1 Nonsynonymous SNV D170E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.456 322042 chr19 18376031 18376031 C A rs552229429 IQCN Synonymous SNV V773V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 322043 chrX 66765161 66765161 - GCAGCA AR Q80_E81insQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 322044 chr9 90586067 90586067 G A CDK20 Nonsynonymous SNV H125Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 322045 chr19 18672894 18672894 G C rs116562436 KXD1 Nonsynonymous SNV V10L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 322046 chr18 56823019 56823019 C T rs148883849 SEC11C Synonymous SNV D149D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 322047 chr19 18679399 18679399 C T rs144609970 KXD1 Synonymous SNV N163N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 322048 chr19 18709662 18709662 C T rs114059820 CRLF1 Synonymous SNV K149K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.88 322049 chr20 21377059 21377059 - GCC rs755976718 NKX2-4 A187_P188insA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 322050 chr19 19822670 19822670 G T rs145936162 ZNF14 Nonsynonymous SNV P474T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 322051 chr19 42091803 42091803 G A rs374431132 CEACAM21 Nonsynonymous SNV D269N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.071 322052 chr19 2098096 2098096 C T rs146424829 IZUMO4 Nonsynonymous SNV S148L 0 0 0.003 0 0 0 0 1 0 0 0 0 29 322053 chr19 42342289 42342289 C T rs201791029 LYPD4 Synonymous SNV S51S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.33 322054 chr19 21606453 21606453 G A rs140008239 ZNF493 Nonsynonymous SNV S203N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322055 chr19 2234134 2234134 A G rs201997689 MIR1227 0 0 0.003 0 0 0 0 1 0 0 0 0 1.82 322056 chrX 102974182 102974182 C T rs199845937 GLRA4 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 322057 chr18 6927414 6927414 G A rs751783544 LINC00668 0 0 0.003 0 0 0 0 1 0 0 0 0 5.808 322058 chr19 44160761 44160761 G A PLAUR Synonymous SNV Y114Y 0 0.003 0 0 0 1 0 0 0 0 0 0 1.075 322059 chr18 7033038 7033038 G A rs568980221 LAMA1 Nonsynonymous SNV A703V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 322060 chr19 2630753 2630753 A G rs530516638 MIR7850 0 0 0.003 0 0 0 0 1 0 0 0 0 0.937 322061 chr20 30749147 30749147 C T rs139824158 TM9SF4 Synonymous SNV A569A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.6 322062 chr19 2806923 2806923 C T rs116482195 THOP1 Synonymous SNV C253C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 322063 chr19 2876123 2876123 A C rs777108591 ZNF556 Nonsynonymous SNV I55L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.348 322064 chr19 2877718 2877718 C T rs370675336 ZNF556 Synonymous SNV A253A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 322065 chrX 72783253 72783253 G A rs763197820 CHIC1 Nonsynonymous SNV E45K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 322066 chr19 30303889 30303889 C A rs146376659 CCNE1 Nonsynonymous SNV P27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 322067 chr19 313537 313537 G A rs147703019 MIER2 Synonymous SNV A218A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.533 322068 chr19 33110259 33110259 G A rs34174163 ANKRD27 Synonymous SNV S638S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.852 322069 chr18 77624052 77624052 G A rs961005051 KCNG2 Nonsynonymous SNV E129K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 322070 chr18 8783588 8783588 C T rs369827156 MTCL1 Nonsynonymous SNV R160C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 322071 chr10 105199598 105199598 G C PDCD11 Nonsynonymous SNV G1374A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 322072 chr19 35512901 35512901 C T rs961938628 GRAMD1A Synonymous SNV P593P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.45 322073 chr19 46288990 46288990 G A rs568725613 DMWD Synonymous SNV H588H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.031 322074 chrX 153692561 153692561 C T rs142270837 PLXNA3 Nonsynonymous SNV A578V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.955 322075 chr19 10270732 10270732 T G rs749001465 DNMT1 Nonsynonymous SNV K335Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.782 322076 chr20 37524270 37524270 C T rs35037544 PPP1R16B Synonymous SNV N128N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.06 322077 chr20 37555366 37555366 A G rs79799203 FAM83D Nonsynonymous SNV H94R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.005 322078 chr20 37580385 37580385 G A rs73908214 FAM83D Nonsynonymous SNV G327D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.34 322079 chr19 36243861 36243861 A G rs545882957 LIN37 Nonsynonymous SNV M66V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 322080 chr19 48255772 48255772 C T rs114474247 NOP53 Nonsynonymous SNV P225S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 322081 chr19 48258075 48258075 C T rs201876600 NOP53 Nonsynonymous SNV T327M 0 0.003 0 0 0 1 0 0 0 0 0 0 2.488 322082 chr19 48305734 48305734 C T rs77880834 TPRX1 Synonymous SNV P178P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.846 322083 chr19 48343009 48343009 C T CRX Synonymous SNV L229L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.819 322084 chr19 48374789 48374789 C T rs11569679 SULT2A1 Nonsynonymous SNV A261T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 322085 chrX 38240676 38240676 C T rs762910963 OTC Nonsynonymous SNV T127M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 322086 chr19 11475138 11475138 G A rs759216131 PLPPR2 Synonymous SNV T352T 0 0 0.003 0 0 0 0 1 0 0 0 0 11 322087 chr19 11616567 11616567 G A rs528960198 ZNF653 Nonsynonymous SNV A12V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 322088 chrX 50052358 50052358 C T rs782396014 CCNB3 Nonsynonymous SNV R397C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 322089 chr19 12059489 12059489 G A rs148924734 ZNF700 Nonsynonymous SNV S220N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 322090 chr19 39217650 39217650 C T rs770826495 ACTN4 Synonymous SNV N748N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 322091 chrX 66765167 66765167 - GCA AR Q80_E81insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 322092 chr19 14003965 14003965 G C C19orf57 Nonsynonymous SNV P232R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 322093 chr19 40317421 40317421 C T rs370695515 DYRK1B Synonymous SNV T434T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 322094 chrX 73960567 73960567 A G rs779149502 NEXMIF Synonymous SNV S1275S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 322095 chrX 76938325 76938325 C T rs782181535 ATRX Nonsynonymous SNV R770Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.2 322096 chr19 41223761 41223761 T C rs73931352 ITPKC Nonsynonymous SNV W241R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 322097 chr19 41250030 41250030 C T rs140541308 C19orf54 Nonsynonymous SNV G197S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.792 322098 chr10 135044068 135044068 G C rs191679915 UTF1 Synonymous SNV L92L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.198 322099 chr19 42225060 42225060 C A rs10423171 CEACAM5 Nonsynonymous SNV R664S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.08 322100 chr20 57605390 57605390 C T rs141894687 ATP5F1E Nonsynonymous SNV V43I 0 0 0 1 0 0 0.003 0 0 0 0 0 4.572 322101 chr19 50939044 50939044 G A rs374389710 MYBPC2 Nonsynonymous SNV E41K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 322102 chr19 42301733 42301733 G C rs61737016 CEACAM3 Nonsynonymous SNV A93P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 322103 chr19 42301763 42301763 A C rs61737014 CEACAM3 Nonsynonymous SNV T103P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322104 chr19 42462977 42462977 C A rs143231392 RABAC1 Synonymous SNV L60L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.8 322105 chr10 104486514 104486514 C T rs754520959 SFXN2 Nonsynonymous SNV R41W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 322106 chr19 42474639 42474639 A G rs61733017 ATP1A3 Synonymous SNV N784N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.791 322107 chr19 42796986 42796986 G A rs780702055 CIC Synonymous SNV P1148P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.329 322108 chr19 42814214 42814214 G C rs199970161 PRR19 Nonsynonymous SNV A160P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 322109 chr19 42814839 42814839 G A rs754618292 PRR19 Nonsynonymous SNV V340I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 322110 chr19 42828521 42828521 C G rs531726320 TMEM145 Nonsynonymous SNV P512R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 322111 chr19 42863083 42863083 G C rs149787596 MEGF8 Nonsynonymous SNV E1707Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.099 322112 chr19 42906004 42906004 C T rs572063779 LIPE Nonsynonymous SNV G1064E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 322113 chr19 42912403 42912403 T A rs35938529 LIPE Nonsynonymous SNV K497N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.7 322114 chr19 42928407 42928407 C A rs36084626 LIPE-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.811 322115 chr19 42930866 42930866 G A rs34348028 LIPE Nonsynonymous SNV P146S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.84 322116 chr19 43031334 43031334 T A rs142053263 CEACAM1 Nonsynonymous SNV N95Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322117 chr19 43031398 43031398 C T rs41368746 CEACAM1 Synonymous SNV V73V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.644 322118 chr19 438830 438830 T C rs140148508 SHC2 Nonsynonymous SNV N203S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 322119 chr10 105824271 105824271 T C COL17A1 Nonsynonymous SNV M231V 0.003 0 0 0 3 0 0 0 0 0 0 0 9.042 322120 chr19 4409006 4409006 C G rs2230633 CHAF1A Synonymous SNV A70A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.8 322121 chr10 24831955 24831955 C T KIAA1217 Synonymous SNV L1252L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.778 322122 chr19 44377801 44377801 A G rs116332620 ZNF404 Nonsynonymous SNV C186R 0 0 0.003 0 0 0 0 1 0 0 0 0 25 322123 chr10 27436427 27436427 A G YME1L1 Synonymous SNV P113P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.662 322124 chr19 17435837 17435837 C T ANO8 Nonsynonymous SNV R1007Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 322125 chr10 27323851 27323851 T C rs186423306 ANKRD26 Synonymous SNV Q1175Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 322126 chr19 44501481 44501481 A G rs146361192 ZNF155 Nonsynonymous SNV K491R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 322127 chr19 17476358 17476358 G A PLVAP Nonsynonymous SNV R306C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 322128 chr19 52327908 52327908 G A rs374026779 FPR3 Nonsynonymous SNV V303I 0 0.003 0 0 0 1 0 0 0 0 0 0 24 322129 chr19 45017301 45017301 T C rs34921521 CEACAM20 Nonsynonymous SNV I360V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 322130 chr19 18499299 18499299 C T rs771328712 GDF15 Nonsynonymous SNV P161S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.54 322131 chr19 18499305 18499305 C T rs199679850 GDF15 Nonsynonymous SNV P163S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.36 322132 chr10 120354337 120354337 C A PRLHR Synonymous SNV L140L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.222 322133 chr10 428652 428652 G A rs202022109 DIP2C Synonymous SNV G642G 0 0 0 1 0 0 0.003 0 0 0 0 0 13.86 322134 chr19 4523753 4523753 C T rs115044192 PLIN5 Synonymous SNV A393A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.677 322135 chr19 45281375 45281375 C T rs115775900 CBLC Nonsynonymous SNV R63W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 322136 chr19 45284495 45284495 C T rs114569424 CBLC Nonsynonymous SNV L178F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 322137 chr10 121583381 121583381 C T rs759464495 INPP5F Nonsynonymous SNV S129L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.424 322138 chr8 144411549 144411549 G A rs201231510 TOP1MT Nonsynonymous SNV R13W 0.001 0.003 0 0 1 1 0 0 0 0 0 0 27.8 322139 chr19 45561110 45561110 C G rs77436067 CLASRP Synonymous SNV A127A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 322140 chr19 45575381 45575381 G T rs146724749 ZNF296 Synonymous SNV A302A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.79 322141 chr19 21566377 21566377 C T ZNF738 Synonymous SNV P343P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.081 322142 chr19 46137650 46137650 C T rs143778766 EML2 Nonsynonymous SNV V65I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 322143 chr19 46271728 46271728 C G rs147268086 SIX5 Synonymous SNV P125P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.79 322144 chr19 2275696 2275696 C T PEAK3 Nonsynonymous SNV A469T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.601 322145 chr19 46307971 46307971 - CTCCTGGTC rs575344442 RSPH6A E397_K398insDQE 0 0 0.003 0 0 0 0 1 0 0 0 0 322146 chr19 46307979 46307979 T C rs115167023 RSPH6A Nonsynonymous SNV D395G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 322147 chr19 46376043 46376043 T C rs28666870 FOXA3 Synonymous SNV P260P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 322148 chr19 46915469 46915469 T A rs114002462 CCDC8 Nonsynonymous SNV Q200L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.3 322149 chr19 47193938 47193938 G A rs56144729 PRKD2 Synonymous SNV D419D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.03 322150 chr19 47258899 47258899 C T rs111754012 FKRP Synonymous SNV P64P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.06 322151 chr19 47778510 47778510 - GCC rs765634817 INAFM1 R116_Y117insR 0 0 0.003 0 0 0 0 1 0 0 0 0 322152 chr8 144995478 144995478 C G rs369984112 PLEC Nonsynonymous SNV E2823D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Uncertain significance 16.09 322153 chr19 47878842 47878842 C T rs79484248 DHX34 Synonymous SNV H728H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.25 322154 chr19 30935540 30935540 G A rs765223716 ZNF536 Synonymous SNV A357A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.047 322155 chr19 47883188 47883188 C T rs1002693734 DHX34 Synonymous SNV S976S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 322156 chr19 47885310 47885310 C T rs572475082 DHX34 Synonymous SNV C1124C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 322157 chr19 47996296 47996296 G C rs115511713 NAPA Synonymous SNV A161A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.653 322158 chr19 48048397 48048397 G T rs534788310 ZNF541 Synonymous SNV G463G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.388 322159 chr19 48253454 48253454 C G rs79458115 NOP53 Synonymous SNV T103T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.385 322160 chr19 48260362 48260362 T C rs116103991 NOP53-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.135 322161 chr8 144999124 144999124 G A rs782338538 PLEC Nonsynonymous SNV A1644V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.2 322162 chr19 55177359 55177359 G A rs149121815 LILRB4 Nonsynonymous SNV R313H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 322163 chr19 34263612 34263612 C G rs148111362 CHST8 Nonsynonymous SNV R307G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.26 322164 chr8 145235171 145235171 C T rs200022874 MROH1 Nonsynonymous SNV R131C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.98 322165 chr10 6054848 6054848 C T rs774531130 IL2RA Nonsynonymous SNV R173K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.53 322166 chr19 36235231 36235231 T C rs752097505 U2AF1L4 Nonsynonymous SNV Y75C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 322167 chr10 70673861 70673861 A G DDX50 Synonymous SNV P330P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.063 322168 chr10 71010315 71010315 C T rs376146800 HKDC1 Synonymous SNV I581I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.5 322169 chr10 19739308 19739308 A T MALRD1 Nonsynonymous SNV I1640F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.799 322170 chr10 23622046 23622046 G C rs564102135 C10orf67 Nonsynonymous SNV S92C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 322171 chr19 5144411 5144411 T C rs10408767 KDM4B Synonymous SNV P963P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 322172 chr19 38956773 38956773 G A RYR1 Synonymous SNV L971L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 322173 chr19 38956987 38956987 C T rs111272095 RYR1 Nonsynonymous SNV R1043C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 28.3 322174 chr19 51647770 51647770 A G rs114209391 SIGLEC7 Nonsynonymous SNV M181V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 322175 chr19 39103274 39103274 C T rs35922303 MAP4K1 Synonymous SNV P214P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 322176 chr10 81697830 81697830 C G rs773620329 SFTPD Nonsynonymous SNV Q302H 0 0 0 1 0 0 0.003 0 0 0 0 0 14.12 322177 chr19 3982546 3982546 G A rs370105452 SNORD37 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 322178 chr10 87484174 87484174 C T rs201205038 GRID1 Nonsynonymous SNV R598K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.671 322179 chr19 57839626 57839626 C T rs774433457 ZNF543 Nonsynonymous SNV R266C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 322180 chr19 58049368 58049368 T C rs75911968 ZNF549 Synonymous SNV Y319Y 0 0.003 0 0 0 1 0 0 0 0 0 0 2.082 322181 chr19 58084911 58084911 C T rs112485279 ZNF416 Nonsynonymous SNV D49N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.5 322182 chr19 58090040 58090040 C T rs147501518 ZNF416 Synonymous SNV S11S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 322183 chr10 93601969 93601969 C T rs747900399 TNKS2 Nonsynonymous SNV T627I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 322184 chr10 94109449 94109449 G A MARCHF5 Nonsynonymous SNV R192Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 322185 chr19 53454254 53454254 T G rs114051138 ZNF816 Nonsynonymous SNV K258N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 322186 chr19 58991848 58991848 A G rs766922073 ZNF446 Nonsynonymous SNV S370G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 322187 chr19 59021347 59021347 C T rs34274259 SLC27A5 Synonymous SNV T224T 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 5.795 322188 chr19 53855861 53855861 A G rs148199925 ZNF845 Nonsynonymous SNV S645G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 322189 chr19 54310807 54310807 C T rs139938997 NLRP12 Nonsynonymous SNV G730R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 322190 chr19 54407954 54407954 C T rs34616316 PRKCG Synonymous SNV Y574Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.24 322191 chr19 54496329 54496329 C T rs10424407 CACNG6 Synonymous SNV N66N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 322192 chr19 54964770 54964770 G A rs754237955 LENG8 Nonsynonymous SNV G121S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.6 322193 chr19 55178148 55178148 G A rs11574575 LILRB4 Nonsynonymous SNV G360D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322194 chr10 61554328 61554328 C G rs779118114 CCDC6 Nonsynonymous SNV G378A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 322195 chr19 55857679 55857679 C G rs60702338 KMT5C Synonymous SNV G223G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 322196 chr19 55858574 55858574 C A rs10420654 KMT5C Synonymous SNV A382A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.49 322197 chr20 4766891 4766895 CTTTA - RASSF2 V298Efs*51 0 0.003 0 0 0 1 0 0 0 0 0 0 322198 chr22 26860472 26860472 G C rs558884663 HPS4 Nonsynonymous SNV P370R 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 22.9 322199 chr19 55870979 55870979 G T rs73607050 FAM71E2 Synonymous SNV S419S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.499 322200 chr19 55899549 55899549 T G rs10411984 RPL28 Nonsynonymous SNV W153G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.847 322201 chr19 56114255 56114255 G C rs75385262 ZNF524 Synonymous SNV G259G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.438 322202 chr19 56172453 56172453 C T rs114531079 U2AF2 Synonymous SNV D128D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 322203 chr19 56669889 56669889 G A rs61736530 ZNF444 Synonymous SNV S108S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.985 322204 chr19 56671359 56671359 C G rs145075834 ZNF444 Nonsynonymous SNV T257S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 322205 chr19 56717462 56717462 G A rs150008894 ZSCAN5C Synonymous SNV Q60Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.592 322206 chr19 46832584 46832584 C T rs199544850 HIF3A Nonsynonymous SNV R452W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 322207 chr19 57065531 57065531 C T rs146235649 ZFP28 Synonymous SNV D459D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.805 322208 chr19 57132879 57132879 G A rs79950845 ZNF71 Nonsynonymous SNV C75Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.29 322209 chr11 102248611 102248611 C T rs35494784 BIRC2 Nonsynonymous SNV P549S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 322210 chr19 57327020 57327020 A G rs35944973 PEG3 Synonymous SNV R775R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.93 322211 chr19 5783037 5783037 G A rs146900286 PRR22 Synonymous SNV S407S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.01 322212 chr19 57868787 57868787 A G ZNF304 Nonsynonymous SNV N517S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 322213 chr19 58597611 58597611 G C rs147947490 ZSCAN18 Nonsynonymous SNV D121E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 322214 chr10 86198280 86198280 T C CCSER2 Synonymous SNV Y54Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 322215 chr10 86198432 86198432 A G rs61743630 CCSER2 Nonsynonymous SNV Q105R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 322216 chr10 86237331 86237331 G A rs61739462 CCSER2 Nonsynonymous SNV A173T 0.001 0 0 0 1 0 0 0 0 0 0 0 21 322217 chr20 31531592 31531593 CT - EFCAB8 S982Rfs*2 0 0.003 0 0 0 1 0 0 0 0 0 0 322218 chr10 89268266 89268266 G A MINPP1 Nonsynonymous SNV V271M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 322219 chr11 108032127 108032127 T A rs745647699 NPAT Nonsynonymous SNV D1236V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 322220 chr19 58880358 58880358 G A rs61741056 ZNF837 Synonymous SNV P114P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.074 322221 chr19 58927186 58927186 G T rs368222432 ZNF584 Nonsynonymous SNV G90V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.782 322222 chr11 1093640 1093640 - CACCA MUC2 Frameshift insertion V1822Ifs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 322223 chr11 1093641 1093641 - GACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCACGACACCCATCACCACCACCACC MUC2 Frameshift insertion T1821Dfs*47 0.001 0 0 0 1 0 0 0 0 0 0 0 322224 chr11 111711519 111711519 G A ALG9 Synonymous SNV G173G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 322225 chr19 50316286 50316286 C G FUZ Nonsynonymous SNV R26S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 322226 chr19 50387552 50387552 A G rs781498902 TBC1D17 Nonsynonymous SNV E357G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 322227 chr22 41791892 41791892 C T rs762412378 TEF Synonymous SNV A250A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 18.84 322228 chr19 50391704 50391704 G A rs371260245 TBC1D17 Synonymous SNV E557E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.006 322229 chr19 6697466 6697466 G A rs138884408 C3 Synonymous SNV S895S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.444 322230 chr10 95380456 95380456 C A PDE6C Nonsynonymous SNV P183Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 322231 chr10 97006982 97006982 A G rs200206990 PDLIM1 Synonymous SNV S225S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.381 322232 chr11 114273601 114273601 T G RBM7 Nonsynonymous SNV V104G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 322233 chr19 763508 763508 A G rs8107847 MISP Nonsynonymous SNV E653G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 322234 chr19 7690892 7690892 C T rs4134839 XAB2 Synonymous SNV P232P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.77 322235 chr19 51840641 51840641 T C VSIG10L Nonsynonymous SNV D719G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 322236 chr19 7808069 7808069 C T rs35545365 CD209 Synonymous SNV A221A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.81 322237 chr19 7810490 7810490 C T rs41335247 CD209 Nonsynonymous SNV R177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 322238 chr19 7810510 7810510 C G rs11465377 CD209 Nonsynonymous SNV E170D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.58 322239 chr19 8138000 8138000 C T rs147675031 FBN3 Synonymous SNV T2628T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.96 322240 chr19 8161784 8161784 C T rs80293030 FBN3 Synonymous SNV S1798S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.22 322241 chr19 8181644 8181644 T C rs34684510 FBN3 Nonsynonymous SNV Q1209R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.28 322242 chr19 8206984 8206984 G C rs35460337 FBN3 Synonymous SNV P193P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.345 322243 chr19 8211039 8211039 C T rs115944603 FBN3 Synonymous SNV T107T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.27 322244 chr19 8212232 8212232 C T rs61729599 FBN3 Nonsynonymous SNV V45M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 322245 chr19 52196599 52196599 C G rs758433143 SPACA6P-AS 0 0 0.007 0 0 0 0 2 0 0 0 0 13.63 322246 chr20 44681717 44681717 C T rs371925559 SLC12A5 Synonymous SNV H856H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.34 322247 chr19 8556035 8556035 G A rs73499680 PRAM1 Nonsynonymous SNV A528V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 322248 chr19 8564287 8564287 C G rs115876394 PRAM1 Synonymous SNV G135G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.25 322249 chr19 8606834 8606834 G A rs34295411 MYO1F Synonymous SNV D518D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.754 322250 chr19 8651349 8651349 C G rs61757472 ADAMTS10 Synonymous SNV L290L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.88 322251 chr11 120008157 120008157 A - TRIM29 C195Afs*64 0 0 0 1 0 0 0.003 0 0 0 0 0 322252 chr19 872002 872002 G A rs141930803 MED16 Synonymous SNV P674P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.46 322253 chr9 125759611 125759611 T G RABGAP1 Nonsynonymous SNV F392C 0 0.003 0 0 0 1 0 0 0 0 0 0 31 322254 chr20 53208311 53208311 G A rs762333473 DOK5 Nonsynonymous SNV R189H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 322255 chr19 53644345 53644345 G C rs577845897 ZNF347 Nonsynonymous SNV T580S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322256 chr22 50956676 50956676 G A rs143114125 NCAPH2 Synonymous SNV A205A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.221 322257 chr19 9068980 9068980 C A rs192934215 MUC16 Nonsynonymous SNV A6156S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.144 322258 chr11 1020207 1020207 C G rs765595248 MUC6 Nonsynonymous SNV G1231R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.326 322259 chr19 9089697 9089697 G C rs376120303 MUC16 Synonymous SNV P706P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.502 322260 chr11 102713570 102713572 AAC - rs782150265 MMP3 V61del 0.001 0 0 0 1 0 0 0 0 0 0 0 322261 chr20 61524197 61524197 C T rs559754889 DIDO1 Synonymous SNV A1073A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.4 322262 chr11 1258213 1258213 C T rs61742791 MUC5B Nonsynonymous SNV T1039M 0 0.003 0 0 0 1 0 0 0 0 0 0 17.27 322263 chrX 40982962 40982962 C G rs757981727 USP9X Synonymous SNV P27P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 10.15 322264 chr11 104825618 104825618 C G CASP4 Nonsynonymous SNV E40Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 322265 chrX 47107071 47107071 C A rs151106709 USP11 Synonymous SNV V866V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.1 322266 chr19 9490235 9490235 A G rs144428865 ZNF177, ZNF559-ZNF177 Nonsynonymous SNV K65E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.523 322267 chr19 9491672 9491672 G A rs142948377 ZNF177 Nonsynonymous SNV R222H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 322268 chrX 48689738 48689738 G A PCSK1N Synonymous SNV L239L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.422 322269 chr11 130319290 130319290 A G rs139785307 ADAMTS15 Nonsynonymous SNV N141S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.147 322270 chr20 62851173 62851173 C T rs144837780 MYT1 Synonymous SNV P693P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.628 322271 chr11 112088566 112088566 A T BCO2 Nonsynonymous SNV Y497F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 322272 chrX 67942305 67942305 C T rs371031481 STARD8 Synonymous SNV S792S 0 0 0 2 0 0 0.005 0 0 0 0 0 13.2 322273 chr1 109276068 109276068 C T rs1277017 FNDC7 Nonsynonymous SNV P685L 0 0 0.007 0 0 0 0 2 0 0 0 0 14.36 322274 chr11 17388825 17388825 C T rs199998646 NCR3LG1 Nonsynonymous SNV R231W 0 0 0 1 0 0 0.003 0 0 0 0 0 1.072 322275 chr11 1651178 1651178 G A rs774957251 KRTAP5-5 Synonymous SNV G36G 0 0.003 0 0 0 1 0 0 0 0 0 0 1.735 322276 chr1 109778701 109778701 C T rs200372929 SARS Nonsynonymous SNV P358S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 322277 chr21 30909579 30909579 C T rs748380852 GRIK1 Nonsynonymous SNV R773Q 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 322278 chr1 110882240 110882240 C T RBM15 Synonymous SNV S71S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 322279 chr1 111060112 111060112 C T rs144405106 KCNA10 Nonsynonymous SNV G433E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 322280 chr1 111060292 111060292 C T rs146624318 KCNA10 Nonsynonymous SNV R373Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.8 322281 chr1 11199448 11199448 C T rs55774271 MTOR Synonymous SNV P1681P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.61 322282 chr1 11253645 11253645 T C rs17036490 ANGPTL7 Synonymous SNV C162C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.344 322283 chrX 109694438 109694438 C T rs764575048 RTL9 Nonsynonymous SNV P198L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 322284 chr11 118765165 118765165 C T rs187389271 CXCR5 Synonymous SNV I259I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.685 322285 chr19 58515826 58515826 C T LOC100128398 0 0 0.003 0 0 0 0 1 0 0 0 0 4.857 322286 chr1 11589872 11589872 C T rs77546140 DISP3 Synonymous SNV F986F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 322287 chr1 11728793 11728793 G T rs144734810 FBXO6 Synonymous SNV T26T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.744 322288 chr1 117487567 117487567 G A rs145790245 PTGFRN Nonsynonymous SNV A229T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.7 322289 chr21 42818024 42818024 A G MX1 Nonsynonymous SNV E410G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 322290 chr1 117603131 117603131 G A rs138286826 TTF2 Nonsynonymous SNV S28N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 28.7 322291 chr19 620367 620367 G C rs749845654 POLRMT Nonsynonymous SNV Q921E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 322292 chr19 651745 651745 G A rs767586943 RNF126 Synonymous SNV D103D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.587 322293 chr1 120345451 120345451 C T rs17024293 REG4 Synonymous SNV X135X 0 0 0.003 0 0 0 0 1 0 0 0 0 2.297 322294 chr11 30902834 30902834 G A rs780083549 DCDC1 Nonsynonymous SNV R806C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 322295 chr1 1386090 1386090 G A rs375341112 ATAD3C Synonymous SNV A9A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 322296 chr11 4091391 4091391 G A STIM1 Nonsynonymous SNV G250E 0 0.003 0 0 0 1 0 0 0 0 0 0 29 322297 chr1 150131353 150131353 C T rs141174945 PLEKHO1 Synonymous SNV L117L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.07 322298 chr11 44135818 44135818 C T rs139525250 EXT2 Nonsynonymous SNV S270L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 22.3 322299 chr1 152080604 152080604 C G rs57736687 TCHH Nonsynonymous SNV E1697Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.82 322300 chr11 46563883 46563883 G A rs144140762 AMBRA1 Nonsynonymous SNV R562C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 322301 chr1 152324106 152324106 G A rs140460426 FLG2 Synonymous SNV G2052G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.506 322302 chr1 152324109 152324109 A G rs144929950 FLG2 Synonymous SNV H2051H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 322303 chr1 152324114 152324114 C T rs148270234 FLG2 Nonsynonymous SNV A2050T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 322304 chr1 152324146 152324146 T G rs141276572 FLG2 Nonsynonymous SNV H2039P 0 0 0.003 0 0 0 0 1 0 0 0 0 22 322305 chr1 152324311 152324311 G C rs199899373 FLG2 Nonsynonymous SNV P1984R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322306 chr1 152324312 152324312 G C rs148579744 FLG2 Nonsynonymous SNV P1984A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322307 chr1 152324315 152324315 A G rs537890764 FLG2 Nonsynonymous SNV Y1983H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322308 chr1 152324316 152324316 G T rs557443846 FLG2 Nonsynonymous SNV H1982Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322309 chr1 152324325 152324325 A G rs138683630 FLG2 Synonymous SNV A1979A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 322310 chr1 152325455 152325455 C T rs74127928 FLG2 Nonsynonymous SNV G1603R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.091 322311 chr1 152328190 152328190 G A rs74127929 FLG2 Nonsynonymous SNV S691F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.77 322312 chr1 152659534 152659534 G C rs61730789 LCE2B Nonsynonymous SNV C72S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.403 322313 chr11 47436420 47436420 C T rs1047022550 SLC39A13 Synonymous SNV G293G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.58 322314 chr1 153113027 153113027 T C SPRR2C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.829 322315 chr1 153276355 153276355 T C rs115222752 PGLYRP3 Synonymous SNV Q169Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.005 322316 chr1 153737480 153737480 C T rs141149262 INTS3 Synonymous SNV S677S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.1 322317 chr1 153902813 153902813 A G rs767881181 DENND4B Nonsynonymous SNV I1495T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 322318 chr1 154033471 154033471 C T rs200466409 NUP210L Nonsynonymous SNV D899N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 322319 chr1 154966221 154966221 C T rs2232635 LENEP Synonymous SNV V46V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.31 322320 chr1 155931630 155931630 G A rs143812169 ARHGEF2 Synonymous SNV D430D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.42 322321 chr1 155935158 155935158 T C rs149517516 ARHGEF2 Synonymous SNV S172S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.573 322322 chr1 156255635 156255635 C G rs36114587 TMEM79 Synonymous SNV A206A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.19 322323 chr11 2338709 2338709 C T rs191438651 TSPAN32 Synonymous SNV S285S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.674 322324 chr11 2416717 2416717 C T rs369472934 CD81 Synonymous SNV N71N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 322325 chr11 2423931 2423931 C T rs375497696 TSSC4 Nonsynonymous SNV T23M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 322326 chr1 10700088 10700088 C T rs140215862 CASZ1 Synonymous SNV S1397S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 322327 chr1 10720454 10720454 C T rs149880030 CASZ1 Synonymous SNV P215P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.52 322328 chr1 1078411 1078411 C T rs146093556 LINC01342 0 0 0.01 0 0 0 0 3 0 0 0 0 4.884 322329 chr1 156821198 156821198 G A rs140072588 INSRR Synonymous SNV S371S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.718 322330 chr22 29940552 29940552 C T THOC5 Nonsynonymous SNV R46Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 322331 chr1 158389993 158389993 G A rs114056819 OR10K2 Nonsynonymous SNV L222F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.898 322332 chr1 158436286 158436289 TTAG - rs553006126 OR10K1 S313fs*0 0 0 0.003 0 0 0 0 1 0 0 0 0 322333 chr22 31032537 31032537 C - rs891348636 SLC35E4 P35Lfs*94 0 0.003 0 0 0 1 0 0 0 0 0 0 322334 chr1 1115488 1115488 G A rs370591688 TTLL10 Nonsynonymous SNV D19N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 322335 chrX 129189860 129189860 T C BCORL1 Synonymous SNV L1629L 0.003 0 0 0 3 0 0 0 1 0 0 0 0.008 322336 chrX 129189862 129189862 G T BCORL1 Nonsynonymous SNV L1629F 0.003 0 0 0 3 0 0 0 1 0 0 0 24.5 322337 chr1 1139470 1139470 G A rs150344511 TNFRSF18 Nonsynonymous SNV S182L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.125 322338 chr22 35947875 35947875 C G RASD2 Synonymous SNV A199A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.4 322339 chr11 392651 392651 G A rs748309780 PKP3 Synonymous SNV P8P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.406 322340 chr1 160651021 160651021 G A rs150735389 CD48 Nonsynonymous SNV T208M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 322341 chr11 429809 429809 G T rs746653401 ANO9 Nonsynonymous SNV L117I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 322342 chr22 38019344 38019344 G A rs777506059 GGA1 Nonsynonymous SNV R207Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 322343 chr22 38046512 38046512 G A rs189769565 LOC101927051 0 0.003 0 0 0 1 0 0 0 0 0 0 5.731 322344 chr1 118420738 118420738 C T GDAP2 Nonsynonymous SNV G447R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 322345 chr1 162336899 162336899 T C NOS1AP Nonsynonymous SNV L93P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 322346 chr22 38524367 38524367 G A rs762534892 PLA2G6 Synonymous SNV H193H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.182 322347 chr1 120436729 120436729 G A ADAM30 Nonsynonymous SNV S744F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 322348 chr22 39883475 39883475 C T rs145462426 MGAT3 Synonymous SNV L41L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.002 322349 chr1 167086590 167086590 A T rs142938681 DUSP27 Synonymous SNV A77A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.008 322350 chr1 168066017 168066017 G A rs34395234 GPR161 Synonymous SNV L198L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.724 322351 chr22 43024270 43024270 G C rs775484973 CYB5R3 Synonymous SNV T117T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 4.313 322352 chr1 169698760 169698760 T G rs3917422 SELE Nonsynonymous SNV Q257P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322353 chr1 145518258 145518258 C T PEX11B Synonymous SNV A106A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 322354 chr1 170959067 170959067 G T rs115940585 MROH9 Nonsynonymous SNV Q317H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.494 322355 chr1 171303811 171303811 G A rs753724760 FMO4 Synonymous SNV A363A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 322356 chrX 17745797 17745797 C T rs769869161 NHS Nonsynonymous SNV R993C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 322357 chrX 19947968 19947968 G A rs770969944 BCLAF3 Nonsynonymous SNV R681W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 322358 chr1 175048562 175048562 G C rs370163267 TNN Nonsynonymous SNV R168P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.198 322359 chr1 151288759 151288759 C T PI4KB Nonsynonymous SNV A67T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.722 322360 chrX 53224140 53224140 C T rs142690298 KDM5C Synonymous SNV A1070A 0.003 0 0 0 3 0 0 0 1 0 0 0 Benign 10.81 322361 chr1 151688486 151688486 G A CELF3 Nonsynonymous SNV P4L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 322362 chr22 46656612 46656612 C G PKDREJ Nonsynonymous SNV G870R 0 0.003 0 0 0 1 0 0 0 0 0 0 9.37 322363 chr1 176175720 176175720 T C rs748216622 COP1 Nonsynonymous SNV N132S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 322364 chr11 47859101 47859101 T C rs768103517 NUP160 Nonsynonymous SNV I275V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 322365 chr1 176708869 176708871 CGA - rs1050613613 PAPPA2 D1303del 0 0 0.003 0 0 0 0 1 0 0 0 0 322366 chr22 47116100 47116100 A G CERK Nonsynonymous SNV C88R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.89 322367 chr1 179363114 179363114 G C rs139341288 AXDND1 Nonsynonymous SNV V314L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.15 322368 chr1 179398726 179398726 A G rs150583143 AXDND1 Nonsynonymous SNV K435R 0 0 0.003 0 0 0 0 1 0 0 0 0 21 322369 chr1 179820143 179820143 T C rs78506845 TOR1AIP2 Synonymous SNV A130A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 322370 chr1 179989296 179989296 C G rs76351623 CEP350 Nonsynonymous SNV P796R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 322371 chr1 180062586 180062586 A G rs74483684 CEP350 Nonsynonymous SNV N2449S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322372 chr1 180165458 180165458 T C rs61525912 QSOX1 Synonymous SNV S510S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.219 322373 chr1 180165608 180165608 C A rs61738533 QSOX1 Synonymous SNV A560A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 322374 chr1 180241053 180241053 C T rs111822893 LHX4 Synonymous SNV S230S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.03 322375 chr1 180904697 180904697 G A rs146608925 KIAA1614 Nonsynonymous SNV G551E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 322376 chr1 180905294 180905294 C T rs79791475 KIAA1614 Nonsynonymous SNV T750I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 322377 chr1 183072515 183072515 G A rs138704958 LAMC1 Synonymous SNV P157P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.551 322378 chrX 64722334 64722334 C T rs772644610 ZC3H12B Nonsynonymous SNV R586C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.63 322379 chr1 156521806 156521806 G A IQGAP3 Synonymous SNV T510T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 322380 chr11 5686330 5686330 G A rs56397848 TRIM5 Synonymous SNV Y397Y 0 0 0 1 0 0 0.003 0 0 0 0 0 7.324 322381 chr1 157767677 157767677 C T rs776530595 FCRL1 Synonymous SNV P389P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 322382 chr1 158226686 158226686 C A CD1A Synonymous SNV R228R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.08 322383 chr11 58189993 58189993 C T rs140238243 OR5B2 Nonsynonymous SNV V248I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.176 322384 chr1 196646655 196646655 T C rs34940854 CFH Synonymous SNV S159S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.381 322385 chr1 196684855 196684855 T C rs35453854 CFH Nonsynonymous SNV I551T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.774 322386 chrX 47836922 47836922 T G rs782340445 ZNF182 Synonymous SNV A169A 0 0.005 0 0 0 2 0 0 0 1 0 0 0.002 322387 chr1 197071606 197071606 A G rs140922974 ASPM Synonymous SNV L2259L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.01 322388 chr1 197073298 197073298 G A rs80238010 ASPM Nonsynonymous SNV R1695C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.2 322389 chr1 160099146 160099146 C A ATP1A2 Nonsynonymous SNV P473T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 322390 chrX 53964450 53964450 G A PHF8 Synonymous SNV H937H 0 0.005 0 0 0 2 0 0 0 1 0 0 0.012 322391 chr1 19992789 19992789 C T rs6660215 HTR6 Synonymous SNV R181R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.12 322392 chrX 75649522 75649522 C T rs148922885 MAGEE1 Nonsynonymous SNV P400L 0 0.005 0 0 0 2 0 0 0 1 0 0 12.59 322393 chr1 201458007 201458007 C T rs61738281 CSRP1 Synonymous SNV A129A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.3 322394 chr1 201465350 201465350 T C rs34504522 CSRP1 Nonsynonymous SNV N28D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.75 322395 chr1 43748717 43748717 C G C1orf210 Synonymous SNV G27G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.876 322396 chr1 45216125 45216125 C T rs751542966 KIF2C Nonsynonymous SNV R56C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 322397 chr1 203317274 203317274 T G rs115908597 FMOD Nonsynonymous SNV Y42S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 322398 chr1 20645213 20645213 C A rs370976049 VWA5B1 Nonsynonymous SNV S280R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 322399 chr1 207133796 207133796 T C rs369202343 FCAMR Synonymous SNV G475G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 322400 chr1 175066602 175066602 C T rs752011838 TNN Synonymous SNV T546T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 322401 chr1 207975520 207975520 C T rs74152401 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 7.244 322402 chr1 207990646 207990646 T C rs75447228 MIR29B2CHG 0 0 0.003 0 0 0 0 1 0 0 0 0 8.791 322403 chr1 207992512 207992512 C A rs201050871 LOC148696 0 0 0.003 0 0 0 0 1 0 0 0 0 18.36 322404 chrX 153697732 153697732 G A rs781951303 PLXNA3 Synonymous SNV Q1535Q 0 0.005 0 0 0 2 0 0 0 1 0 0 10.2 322405 chrY 14928191 14928191 C G rs767662401 USP9Y Nonsynonymous SNV P1581R 0 0.005 0 0 0 2 0 0 0 1 0 0 21.2 322406 chr1 11838782 11838782 C T C1orf167 Nonsynonymous SNV A802V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 322407 chr1 209963038 209963038 A G rs61099902 IRF6 Synonymous SNV L290L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.081 322408 chr1 180151452 180151452 C T rs61734472 QSOX1 Synonymous SNV P250P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 322409 chr1 213415395 213415395 C A rs144436274 RPS6KC1 Nonsynonymous SNV T394N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.683 322410 chr1 214803925 214803925 A C rs61999278 CENPF Nonsynonymous SNV I415L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.532 322411 chr11 57243866 57243866 G A RTN4RL2 Nonsynonymous SNV D249N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 322412 chr1 215953266 215953266 T C rs145207584 USH2A Nonsynonymous SNV I3620V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23 322413 chr1 217604492 217604492 C T rs34576349 GPATCH2 Nonsynonymous SNV A528T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 322414 chr11 65630942 65630942 C T MUS81 Synonymous SNV L270L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 322415 chr1 22165384 22165384 G A rs368151242 HSPG2 Nonsynonymous SNV R3363C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 322416 chr1 22198768 22198768 C T rs62642525 HSPG2 Nonsynonymous SNV E1379K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25 322417 chr1 186302387 186302387 A C TPR Synonymous SNV A1774A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 322418 chr1 18023606 18023606 C T rs375266292 ARHGEF10L Nonsynonymous SNV R894W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 322419 chr1 22447821 22447821 G A rs12067696 WNT4 Synonymous SNV D157D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.592 322420 chr1 226108194 226108194 G C rs181648767 PYCR2 Synonymous SNV L234L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.069 322421 chr1 227182043 227182043 G T rs373832771 CDC42BPA Nonsynonymous SNV P1668T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 322422 chr11 60704838 60704838 G C rs146262615 SLC15A3 Nonsynonymous SNV I533M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 322423 chr1 228391745 228391745 C T rs140140473 OBSCN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.536 322424 chr1 228412392 228412392 C T rs12040506 OBSCN Synonymous SNV C962C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.81 322425 chr1 228431034 228431034 A G rs55760713 OBSCN Nonsynonymous SNV K1027R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.005 322426 chr1 228459677 228459677 C T rs117651701 OBSCN Nonsynonymous SNV P1914L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 322427 chr1 228461615 228461615 G A rs28603121 OBSCN Nonsynonymous SNV R1761H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 322428 chr1 228467087 228467087 C T rs12030528 OBSCN Synonymous SNV T2446T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.17 322429 chr1 228475954 228475954 C T rs55946300 OBSCN Nonsynonymous SNV A3335V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.868 322430 chr1 228504586 228504586 C G rs188287808 OBSCN Nonsynonymous SNV H4488D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.1 322431 chr1 228504650 228504650 G A rs193004966 OBSCN Nonsynonymous SNV R4509H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.95 322432 chr11 74408310 74408310 T C rs758331735 CHRDL2 Nonsynonymous SNV R300G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 322433 chr1 228547827 228547827 G C rs141801603 OBSCN Nonsynonymous SNV A6412P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.781 322434 chr1 228547913 228547913 G A rs117551232 OBSCN Synonymous SNV T6440T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.246 322435 chr1 228558807 228558807 C T rs147052901 OBSCN Synonymous SNV L6776L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.461 322436 chr1 228564499 228564499 G A rs146227444 OBSCN Nonsynonymous SNV E7655K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 322437 chr1 228564504 228564504 G A rs139209300 OBSCN Synonymous SNV E7656E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.248 322438 chr1 228645156 228645156 C A rs183360027 HIST3H2A Synonymous SNV T121T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 322439 chr1 22915722 22915722 G A rs146096622 EPHA8 Synonymous SNV P446P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.858 322440 chr11 63585497 63585497 C T SPINDOC Synonymous SNV H116H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 322441 chr1 231727310 231727310 C T LINC00582 0 0 0.003 0 0 0 0 1 0 0 0 0 4.305 322442 chr1 207107801 207107801 C G rs771298522 PIGR Nonsynonymous SNV A557P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 322443 chr1 207107968 207107968 G A rs750944757 PIGR Nonsynonymous SNV T501M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 322444 chr1 209796810 209796810 G T rs7544976 MIR4260 0 0 0.003 0 0 0 0 1 0 0 0 0 4.69 322445 chr11 82878182 82878182 T G PCF11 Nonsynonymous SNV D611E 0 0 0 1 0 0 0.003 0 0 0 0 0 6.769 322446 chr1 212583786 212583786 T G rs1044326699 PACC1 Nonsynonymous SNV Q38H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.23 322447 chr1 236734886 236734886 C T rs913171186 HEATR1 Nonsynonymous SNV G1270S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 322448 chr1 237634431 237634431 A G rs73108496 MIR4428 0 0 0.003 0 0 0 0 1 0 0 0 0 0.653 322449 chr1 23763938 23763938 T G rs16828486 ASAP3 Nonsynonymous SNV E368A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.1 322450 chr1 45798137 45798137 G A rs767327888 MUTYH Synonymous SNV N95N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.739 322451 chr11 86519705 86519705 T C rs909411584 PRSS23 Synonymous SNV F340F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.104 322452 chr11 62678477 62678477 C A rs373462832 CHRM1 Synonymous SNV T32T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.25 322453 chr11 62763221 62763221 C T rs762028161 SLC22A8 Nonsynonymous SNV R196Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 322454 chr1 215940062 215940062 C T rs140548353 USH2A Nonsynonymous SNV E3670K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.1 322455 chr1 240351514 240351514 A G rs74784382 FMN2 Synonymous SNV Q646Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.662 322456 chr1 240969599 240969599 T C rs138076318 RGS7 Synonymous SNV K317K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.271 322457 chr1 216051109 216051109 C A USH2A Nonsynonymous SNV G2891V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 322458 chr1 241886740 241886740 T A rs142645830 WDR64 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 322459 chr11 8947193 8947193 A T rs758672166 C11orf16 Nonsynonymous SNV S341T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 322460 chr1 242121904 242121904 G C rs61466879 BECN2 Nonsynonymous SNV R279P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.974 322461 chr1 24385441 24385441 C T rs140240337 MYOM3 Synonymous SNV P1341P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 322462 chr1 112045771 112045771 G C ADORA3, TMIGD3 Nonsynonymous SNV A69G 0 0 0 1 0 0 0.003 0 0 0 0 0 24 322463 chr11 9077375 9077375 C T SCUBE2 Nonsynonymous SNV R391Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.8 322464 chr1 41204531 41204536 GGATTT - NFYC F7_G8del 0.001 0 0 0 1 0 0 0 0 0 0 0 322465 chr1 244869070 244869070 C T rs41315852 DESI2 Synonymous SNV P155P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 322466 chr1 246811190 246811190 C T rs146205996 CNST Nonsynonymous SNV L563F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 322467 chr1 24706155 24706155 T C rs35124440 STPG1 Synonymous SNV P103P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.8 322468 chr11 66136653 66136653 C T SLC29A2 Nonsynonymous SNV R98H 0.001 0 0 0 1 0 0 0 0 0 0 0 31 322469 chr1 42630354 42630354 G C rs140314264 GUCA2A Nonsynonymous SNV C10W 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 322470 chr1 247079641 247079641 T C rs148019871 AHCTF1 Nonsynonymous SNV I60V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322471 chr1 228335348 228335348 C T rs141255130 GUK1 Synonymous SNV T162T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 322472 chr1 248085232 248085232 C T rs6695357 OR2T8 Nonsynonymous SNV R305W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 322473 chr11 68703973 68703973 C T rs138396245 IGHMBP2 Synonymous SNV T675T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.6 322474 chr1 248112807 248112807 C G rs114889258 OR2L8 Synonymous SNV S216S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.241 322475 chr12 102142917 102142917 A G rs772920902 GNPTAB Synonymous SNV L1219L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.296 322476 chr1 228526605 228526605 G T rs1041841473 OBSCN Synonymous SNV L5712L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.67 322477 chr1 248487186 248487186 C G rs74153159 OR2M7 Nonsynonymous SNV G229R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.29 322478 chr1 228602578 228602578 T G rs914986026 TRIM17 Synonymous SNV R66R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.189 322479 chr1 248525121 248525121 T C rs144881458 OR2T4 Nonsynonymous SNV L80P 0 0 0.003 0 0 0 0 1 0 0 0 0 23 322480 chr1 230895364 230895364 A T rs150539773 CAPN9 Synonymous SNV I130I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.453 322481 chr1 248525847 248525847 A G rs74153570 OR2T4 Nonsynonymous SNV Y322C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 322482 chr11 66834296 66834296 G A rs199564405 RHOD Nonsynonymous SNV S103N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 322483 chr1 249120584 249120584 C T rs12081872 MIR3124 0 0 0.003 0 0 0 0 1 0 0 0 0 6.054 322484 chr1 249120631 249120631 C A rs115160731 MIR3124 0 0 0.003 0 0 0 0 1 0 0 0 0 8.628 322485 chr1 249210924 249210924 C T rs80272402 PGBD2 Synonymous SNV P47P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 322486 chr1 235964397 235964397 C T rs767077644 LYST Nonsynonymous SNV G1238E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.729 322487 chr1 26147333 26147333 C T rs115285222 LOC646471 0 0 0.003 0 0 0 0 1 0 0 0 0 7.421 322488 chr1 26392856 26392856 G A rs373853866 TRIM63 Nonsynonymous SNV R79C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 322489 chr1 26586167 26586167 G T rs75187071 CEP85 Nonsynonymous SNV L354F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.4 322490 chr1 24077943 24077943 C T rs139059717 ELOA Nonsynonymous SNV P309L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.674 322491 chr11 68664103 68664103 A G rs142851966 MRPL21 Synonymous SNV Y92Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 322492 chr1 24122717 24122717 C T rs143694860 GALE Synonymous SNV V304V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.07 322493 chr1 153635194 153635194 C T rs189788615 ILF2 Synonymous SNV E295E 0 0 0 1 0 0 0.003 0 0 0 0 0 12.99 322494 chr1 27877073 27877073 G T AHDC1 Synonymous SNV T518T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.96 322495 chr1 28206348 28206348 T C rs78644103 THEMIS2 Synonymous SNV S143S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 322496 chr1 28817496 28817496 G A rs201171254 PHACTR4 Nonsynonymous SNV R627Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 322497 chr1 2938799 2938799 C T rs148799964 ACTRT2 Synonymous SNV H183H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 322498 chr1 154516512 154516512 C T rs766356300 TDRD10 Nonsynonymous SNV R193C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.15 322499 chr1 29605543 29605543 C T rs35932909 PTPRU Synonymous SNV A491A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 322500 chr1 31189060 31189060 G A rs34163530 MATN1 Synonymous SNV I301I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.05 322501 chr1 31791962 31791962 A G rs149257512 ZCCHC17 Star tloss M47V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.71 322502 chr1 32118369 32118369 C T rs114852423 COL16A1 Synonymous SNV P1566P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 322503 chr1 32198175 32198175 C T rs61742965 ADGRB2 Synonymous SNV R1188R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.62 322504 chr1 32265054 32265054 T C rs35893741 SPOCD1 Nonsynonymous SNV I99V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322505 chr1 32541295 32541295 C T TMEM39B Stop gain Q75X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 322506 chr1 247492679 247492679 C T rs539020308 ZNF496 Nonsynonymous SNV G68R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.001 322507 chr12 113826350 113826350 C T rs199700403 PLBD2 Synonymous SNV S531S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.8 322508 chr1 155774873 155774873 A G rs200801519 GON4L Synonymous SNV V504V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 2.268 322509 chr1 33772799 33772799 G T rs11812052 A3GALT2 Stop gain C197X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 322510 chr1 67786088 67786088 A G rs17129772 IL12RB2 Nonsynonymous SNV M13V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 322511 chr1 36055627 36055627 G A rs77469193 TFAP2E Synonymous SNV T294T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 322512 chr1 36056243 36056243 G A rs115368882 TFAP2E Nonsynonymous SNV V305M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 322513 chr1 47691299 47691299 C T rs769973350 TAL1 Nonsynonymous SNV V88M 0 0.003 0 0 0 1 0 0 0 0 0 0 27.5 322514 chr1 39339074 39339074 C - rs149639805 LOC105378663 0 0 0.003 0 0 0 0 1 0 0 0 0 322515 chr1 39927685 39927685 C T rs116271948 MACF1 Synonymous SNV T5159T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.93 322516 chr1 40539817 40539817 C G rs72937434 PPT1 Nonsynonymous SNV Q176H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.9 322517 chr1 40702570 40702570 C T rs16827078 RLF Synonymous SNV H732H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.872 322518 chr1 40704793 40704793 T C rs16827079 RLF Synonymous SNV Y1473Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 322519 chr1 40705238 40705238 C T rs61738846 RLF Nonsynonymous SNV R1622C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.996 322520 chr1 40705399 40705399 T C rs34712514 RLF Synonymous SNV N1675N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 322521 chr1 41094964 41094964 G C rs561024 RIMS3 Nonsynonymous SNV P185A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 322522 chr1 54371923 54371923 C A DIO1 Nonsynonymous SNV P165T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 322523 chr1 41204578 41204578 G A rs112892225 NFYC Synonymous SNV S21S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 322524 chr1 41978953 41978953 G T rs79791594 HIVEP3 Nonsynonymous SNV P1980Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.88 322525 chr11 83243752 83243752 C T DLG2 Nonsynonymous SNV G108E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 322526 chr1 43907177 43907177 G A rs374896394 SZT2 Nonsynonymous SNV R2448H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 322527 chr1 44118876 44118876 C T rs140577325 KDM4A Synonymous SNV P10P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.8 322528 chr12 132204022 132204022 G C rs745373470 SFSWAP Nonsynonymous SNV E182Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 322529 chr1 44424525 44424525 G A rs74073335 IPO13 Synonymous SNV E664E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.911 322530 chr1 45092025 45092025 C A rs76104973 RNF220 Synonymous SNV P48P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 322531 chr11 88027636 88027636 G A rs148742372 CTSC Synonymous SNV Y310Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.098 322532 chr1 46745197 46745197 G A rs148813221 LRRC41 Synonymous SNV L704L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.235 322533 chr1 47013404 47013404 A G rs140455646 KNCN X102R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.62 322534 chr1 47078706 47078706 G A rs115764884 MOB3C Synonymous SNV Y148Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.807 322535 chr1 47152520 47152520 A G rs6665021 EFCAB14 Nonsynonymous SNV L337P 0 0 0.003 0 0 0 0 1 0 0 0 0 21 322536 chr1 51584404 51584404 G A rs12081902 C1orf185 Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.697 322537 chr1 51613354 51613354 G A rs74080736 C1orf185 Nonsynonymous SNV G171R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 322538 chr1 51826984 51826984 T G rs139788081 EPS15 Nonsynonymous SNV K487N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 322539 chr1 52344157 52344157 G A rs138608728 NRDC Nonsynonymous SNV P44L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.718 322540 chr12 106460674 106460674 C T rs776270199 NUAK1 Nonsynonymous SNV R631Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27 322541 chr1 52705174 52705174 A G rs34437486 ZFYVE9 Synonymous SNV V695V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 322542 chr1 52823579 52823579 G C rs62000440 CC2D1B Nonsynonymous SNV H491D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.703 322543 chr1 53237196 53237196 G A rs147592833 ZYG11B Nonsynonymous SNV R234Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 322544 chr1 3425708 3425708 C T rs775919968 MEGF6 Nonsynonymous SNV D487N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 322545 chr1 3425766 3425766 G A rs780082375 MEGF6 Synonymous SNV F467F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.98 322546 chr1 54476060 54476060 G T rs202234131 LDLRAD1 Nonsynonymous SNV H83N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.515 322547 chr1 54610153 54610153 G A rs370851109 CDCP2 Nonsynonymous SNV A138V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 322548 chr1 54656470 54656470 G A rs61738954 CYB5RL Nonsynonymous SNV P100S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 322549 chr1 55050405 55050405 C T rs6663891 ACOT11 Synonymous SNV D37D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.363 322550 chr1 55085605 55085605 C T rs147294199 FAM151A Nonsynonymous SNV R65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.51 322551 chr12 13769397 13769397 T A rs753284709 GRIN2B Synonymous SNV I440I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 322552 chr1 55119466 55119466 C T rs2304315 MROH7 Synonymous SNV S289S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 322553 chr1 55161085 55161085 C T rs146007179 MROH7 Synonymous SNV R480R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 322554 chr1 55248027 55248027 C G rs116444497 TTC22 Nonsynonymous SNV G382R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 322555 chr1 55524222 55524222 C T rs141502002 PCSK9 Nonsynonymous SNV R469W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 19.93 322556 chr12 110952892 110952892 C G rs61758787 RAD9B Nonsynonymous SNV Q104E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.3 322557 chr1 59365126 59365126 C T rs117171386 LINC01135 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 322558 chr1 6155484 6155484 G A rs116542179 KCNAB2 Synonymous SNV P163P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.84 322559 chr1 6195328 6195328 G A rs116550066 CHD5 Synonymous SNV T944T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.52 322560 chr12 104049330 104049330 G A rs773344183 STAB2 Nonsynonymous SNV G569S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 322561 chr12 22211504 22211504 G A rs756644966 CMAS Nonsynonymous SNV R188H 0 0 0 1 0 0 0.003 0 0 0 0 0 23 322562 chr12 113623194 113623194 C T DDX54 Synonymous SNV R21R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.94 322563 chr1 45293233 45293233 C T rs772919434 PTCH2 Nonsynonymous SNV E738K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 322564 chr12 3043724 3043724 C T rs141926328 TULP3 Synonymous SNV S307S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 322565 chr12 45105127 45105127 A G rs767412046 NELL2 Synonymous SNV C379C 0 0.003 0 0 0 1 0 0 0 0 0 0 9.525 322566 chr1 75204447 75204447 G A rs11538281 TYW3 Nonsynonymous SNV R110Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 322567 chr1 77525858 77525858 - G rs147248715 MIR7156 0 0 0.003 0 0 0 0 1 0 0 0 0 322568 chr1 8420966 8420966 G A rs77608355 RERE Synonymous SNV G313G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.116 322569 chr1 85035692 85035692 T C rs12076236 CTBS Synonymous SNV L149L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.921 322570 chr1 85279766 85279766 T C rs61737670 LPAR3 Synonymous SNV K275K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.431 322571 chr1 86820357 86820357 G A rs61741894 ODF2L Synonymous SNV D459D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.337 322572 chr12 48737331 48737331 A C rs374519192 ZNF641 Nonsynonymous SNV F225V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.403 322573 chr1 59248278 59248278 G A rs751812359 JUN Synonymous SNV G155G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.558 322574 chr1 59811961 59811964 CAGT - FGGY S9Kfs*19 0 0 0.003 0 0 0 0 1 0 0 0 0 322575 chr12 49220897 49220897 C T rs17854164 CACNB3 Synonymous SNV P336P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.94 322576 chr1 89835220 89835220 C A rs114110284 GBP6 Synonymous SNV G102G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 322577 chr1 153967571 153967571 T C rs977073701 NUP210L Synonymous SNV S1672S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.297 322578 chr1 9009452 9009452 C T rs61746465 CA6 Synonymous SNV G70G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.95 322579 chr1 111784956 111784956 A G CHI3L2 Synonymous SNV Q371Q 0 0.003 0 0 0 1 0 0 0 0 0 0 5.758 322580 chr1 92946461 92946461 A G rs374062963 GFI1 Synonymous SNV P161P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.192 322581 chr1 93676439 93676439 C T rs189830464 CCDC18 Synonymous SNV C430C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.72 322582 chr1 94016520 94016520 T G rs61754464 FNBP1L Synonymous SNV T498T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.453 322583 chr1 94342560 94342560 T C DNTTIP2 Nonsynonymous SNV K311E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.602 322584 chr1 94528836 94528836 T C rs145718830 ABCA4 Nonsynonymous SNV E531G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 322585 chr1 94640188 94640188 C T rs140638899 ARHGAP29 Nonsynonymous SNV R944K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.336 322586 chr1 95286531 95286531 A G rs115924939 SLC44A3 Synonymous SNV Q18Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.934 322587 chr1 74818961 74818961 A G rs375033470 FPGT-TNNI3K, TNNI3K Nonsynonymous SNV Y315C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 322588 chr1 978920 978920 C T rs745663789 AGRN Nonsynonymous SNV R536C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.1 322589 chr1 99470045 99470045 G A rs78188891 PLPPR5 Synonymous SNV S61S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 322590 chr1 85121613 85121613 G A rs376647351 SSX2IP Nonsynonymous SNV R404C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 322591 chr20 17474749 17474749 G T rs16999317 BFSP1 Nonsynonymous SNV D531E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.8 322592 chr1 879363 879363 C T rs749874826 SAMD11 Nonsynonymous SNV R626W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 322593 chr20 18361602 18361602 C A LINC00851 0 0 0.003 0 0 0 0 1 0 0 0 0 5.567 322594 chr1 160012083 160012083 G A rs774758209 KCNJ10 Synonymous SNV F80F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.252 322595 chr20 18549921 18549921 C T rs6112031 SMIM26 Nonsynonymous SNV L54F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 322596 chr20 20180496 20180496 C T rs116508993 CFAP61 Synonymous SNV L628L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 322597 chr12 27135794 27135794 - A rs34653193 TM7SF3 0.001 0 0 0 1 0 0 0 0 0 0 0 322598 chr12 27654897 27654897 C T rs374498421 SMCO2 Nonsynonymous SNV T292I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.192 322599 chr1 165652327 165652327 A G rs781486535 ALDH9A1 Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.62 322600 chr12 28637090 28637090 C A rs61731729 CCDC91 Nonsynonymous SNV Q241K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.7 322601 chr12 18715643 18715647 AAAGG - rs761114683 PIK3C2G E1160Sfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 322602 chr20 2846115 2846115 A G rs1055050295 VPS16 Nonsynonymous SNV S605G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 322603 chr1 169764248 169764248 C G rs543797310 C1orf112 Nonsynonymous SNV S2C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.45 322604 chr1 95428780 95428780 T C rs947722093 LOC729970 0 0 0.003 0 0 0 0 1 0 0 0 0 8.804 322605 chr20 31189450 31189450 G C rs79470348 NOL4L-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 2.23 322606 chr20 31375211 31375211 C T rs147945634 DNMT3B Nonsynonymous SNV P127L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.8 322607 chr12 22440184 22440184 T C rs144481267 ST8SIA1 Nonsynonymous SNV M94V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.258 322608 chr1 9777122 9777122 G A rs28730668 PIK3CD Nonsynonymous SNV V267I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.31 322609 chr12 57992951 57992951 T C PIP4K2C Nonsynonymous SNV M158T 0 0 0 1 0 0 0.003 0 0 0 0 0 25 322610 chr20 11249340 11249340 G A rs557428360 LOC339593 0 0 0.003 0 0 0 0 1 0 0 0 0 1.667 322611 chr20 31876547 31876547 A G rs61737957 BPIFB1 Nonsynonymous SNV K39R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.002 322612 chr1 172539208 172539208 C G rs368426579 SUCO Nonsynonymous SNV S256C 0.002 0 0 0 2 0 0 0 0 0 0 0 27.3 322613 chr20 32247421 32247421 G A rs17124890 NECAB3 Nonsynonymous SNV P254L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 1.008 322614 chr20 32848294 32848294 C T rs146541846 ASIP Synonymous SNV S38S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 322615 chr20 33334661 33334661 T C rs17092079 NCOA6 Nonsynonymous SNV N955S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 322616 chr20 33508826 33508826 A G rs10485507 ACSS2 Synonymous SNV T292T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.178 322617 chr20 33565890 33565890 C A rs17092199 MYH7B Nonsynonymous SNV P70T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.2 322618 chr20 1551728 1551728 G A rs746345621 SIRPB1 Synonymous SNV N269N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.803 322619 chr12 44124394 44124394 G A rs377179643 PUS7L Nonsynonymous SNV P318S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 322620 chr20 33875631 33875631 C G rs150172002 FAM83C Synonymous SNV L317L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.484 322621 chr20 34064394 34064394 G T rs74929920 CEP250 Nonsynonymous SNV V613F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.8 322622 chr20 34152479 34152479 G A rs966860759 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 7.798 322623 chr20 34183657 34183657 C T rs78498266 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 322624 chr20 34505443 34505443 T C rs144394347 PHF20 Synonymous SNV F621F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.982 322625 chr20 35242283 35242283 A G SLA2 Synonymous SNV L258L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.087 322626 chr20 35443935 35443935 T A rs138136670 SOGA1 Nonsynonymous SNV H637L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.54 322627 chr20 36769687 36769687 C T rs147979857 TGM2 Nonsynonymous SNV E285K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 322628 chr20 36770483 36770483 G A rs2229471 TGM2 Synonymous SNV D245D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.156 322629 chr20 36841839 36841839 G A rs61748970 KIAA1755 Stop gain R721X 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 36 322630 chr20 36859719 36859719 C T rs535698884 KIAA1755 Nonsynonymous SNV D586N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 322631 chr20 37255769 37255769 C T rs6015496 ARHGAP40 Nonsynonymous SNV R156W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 322632 chr20 37274744 37274744 C G rs116732775 ARHGAP40 Nonsynonymous SNV R541G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 322633 chr20 39832720 39832720 T C ZHX3 Synonymous SNV P279P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.065 322634 chr1 183857655 183857655 G A rs375471211 RGL1 Synonymous SNV S331S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 322635 chr12 76741078 76741078 A G rs749392946 BBS10 Synonymous SNV P229P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.079 322636 chr1 242159551 242159551 C T rs867743099 MAP1LC3C Nonsynonymous SNV A120T 0 0 0 1 0 0 0.003 0 0 0 0 0 28 322637 chr20 25655869 25655869 A G rs925463115 ZNF337 Synonymous SNV F685F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 322638 chr20 45242258 45242258 A G rs759363167 SLC13A3 Nonsynonymous SNV M73T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 322639 chr12 94673304 94673304 G A PLXNC1 Synonymous SNV R1218R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.72 322640 chr1 207647643 207647643 G A rs151093663 CR2 Stop gain W707X 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 39 322641 chr20 49458426 49458426 T A rs2145692 BCAS4 Nonsynonymous SNV S160T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.464 322642 chr20 49458427 49458427 C A rs2145693 BCAS4 Nonsynonymous SNV S160Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25 322643 chr20 49493076 49493076 G A rs9808615 BCAS4 Synonymous SNV T136T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.468 322644 chr12 96915955 96915955 G A rs757354860 CFAP54 Synonymous SNV R382R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.552 322645 chr20 51870325 51870325 A G rs139381419 TSHZ2 Nonsynonymous SNV T107A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322646 chr20 51871936 51871936 G A rs149845942 TSHZ2 Nonsynonymous SNV E644K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 322647 chr20 53205281 53205281 G A rs16999812 DOK5 Synonymous SNV R115R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 322648 chr20 54987391 54987391 A C rs113602189 CASS4 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 322649 chr12 52774148 52774148 G A KRT84 Nonsynonymous SNV R475W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 322650 chr1 171765677 171765677 G A EEF1AKNMT Synonymous SNV L471L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 322651 chr20 56138686 56138686 C T rs61760966 PCK1 Synonymous SNV C288C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.92 322652 chr12 53685589 53685589 G A rs763680704 ESPL1 Nonsynonymous SNV R1879H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.685 322653 chr20 58441612 58441612 C T rs58905758 SYCP2 Synonymous SNV T1386T 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 14.74 322654 chr20 39990992 39990992 G T rs749958998 EMILIN3 Nonsynonymous SNV T406N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.908 322655 chr20 40041977 40041977 G A CHD6 Nonsynonymous SNV P2373L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 322656 chr20 60886792 60886792 C G rs541141300 LAMA5 Synonymous SNV R3228R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.346 322657 chr12 55820372 55820372 T G rs151017253 OR6C76 Nonsynonymous SNV L112R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 322658 chr1 208390080 208390080 C T rs374550780 PLXNA2 Synonymous SNV A396A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.15 322659 chr20 60905996 60905996 C T rs200702801 LAMA5 Nonsynonymous SNV A1219T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.01 322660 chr12 53454035 53454035 A T TNS2 Synonymous SNV A880A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 322661 chr12 56527641 56527641 G A rs200340349 ESYT1 Nonsynonymous SNV R486Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 322662 chr20 61472039 61472039 C T rs34911725 COL9A3 Synonymous SNV A670A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.83 322663 chr1 216246298 216246298 T A USH2A Synonymous SNV R1930R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 322664 chr20 62187805 62187805 G A rs144634992 FNDC11 Synonymous SNV V263V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.304 322665 chr20 62190660 62190660 T C rs113364666 HELZ2 Nonsynonymous SNV Q2061R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 322666 chr20 62194632 62194632 T C rs1040613066 HELZ2 Nonsynonymous SNV Q1279R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 322667 chr1 186302463 186302463 C T rs751320107 TPR Nonsynonymous SNV R1749H 0 0.003 0 0 0 1 0 0 0 0 0 0 25 322668 chr12 62954624 62954624 A G rs756454783 MON2 Nonsynonymous SNV T1255A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 322669 chr13 24868994 24868994 C T rs750713945 SPATA13 Synonymous SNV I301I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.32 322670 chr20 744510 744510 G A rs3746806 SLC52A3 Synonymous SNV L235L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.519 322671 chr20 745898 745898 T C rs6054614 SLC52A3 Nonsynonymous SNV D174G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.005 322672 chr20 9417663 9417663 C T rs35218589 PLCB4 Synonymous SNV D864D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.77 322673 chr20 57268831 57268831 C T rs773205707 NPEPL1 Synonymous SNV P63P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.56 322674 chr13 25832792 25832792 A G rs780402135 MTMR6 Synonymous SNV Y255Y 0 0 0 1 0 0 0.003 0 0 0 0 0 2.224 322675 chr2 25982395 25982395 A G ASXL2 Nonsynonymous SNV C39R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 322676 chr13 29898773 29898773 G A rs199590352 MTUS2 Nonsynonymous SNV D944N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.9 322677 chr21 30415904 30415904 C T USP16 Nonsynonymous SNV A446V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 322678 chr12 72311504 72311504 A G TBC1D15 Synonymous SNV Q476Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.78 322679 chr1 202934552 202934552 C T CYB5R1 Nonsynonymous SNV G141E 0 0.003 0 0 0 1 0 0 0 0 0 0 31 322680 chr13 41515265 41515265 A C rs35449414 ELF1 Nonsynonymous SNV S326A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.14 322681 chr1 204375246 204375246 C T rs915775509 PPP1R15B Nonsynonymous SNV G706R 0 0.003 0 0 0 1 0 0 0 0 0 0 15.42 322682 chr1 232574890 232574890 C G SIPA1L2 Nonsynonymous SNV S1332T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 322683 chr21 40571506 40571506 C T BRWD1 Synonymous SNV L1612L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 322684 chr1 233802526 233802526 A G KCNK1 Nonsynonymous SNV I181V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 322685 chr12 8245493 8245493 C T rs770195923 NECAP1 Nonsynonymous SNV A173V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.19 322686 chr2 33500937 33500937 G A rs868050283 LTBP1 Nonsynonymous SNV R654Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 322687 chr13 52952689 52952689 G T THSD1 Nonsynonymous SNV S419R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.846 322688 chr13 53039589 53039589 G A CKAP2 Nonsynonymous SNV A490T 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 322689 chr2 42543188 42543188 T C rs751462039 EML4 Nonsynonymous SNV I627T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.08 322690 chr21 45736383 45736383 G A rs9980790 PFKL Synonymous SNV T304T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 322691 chr21 45825103 45825103 G A rs150962727 TRPM2 Nonsynonymous SNV V873I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.05 322692 chr21 45937613 45937613 T G rs116523973 TSPEAR-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.413 322693 chr21 45937617 45937617 T C rs7275609 TSPEAR-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.976 322694 chr21 45978128 45978128 G A rs186210430 KRTAP10-3 Synonymous SNV S157S 0 0 0.007 0 0 0 0 2 0 0 1 0 6.285 322695 chr21 46057950 46057950 G A rs7280841 KRTAP10-10 Nonsynonymous SNV V206I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.051 322696 chr21 37618485 37618485 G A rs779407752 DOP1B Nonsynonymous SNV G1403R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.467 322697 chr21 46078068 46078068 G A rs372556665 KRTAP12-3 Nonsynonymous SNV V58M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 322698 chr21 46193565 46193565 G A rs147057622 UBE2G2 Synonymous SNV H24H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.71 322699 chr14 101347541 101347541 C T rs373410691 RTL1 Synonymous SNV T1195T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.53 322700 chr21 46354750 46354750 G A rs7278337 LINC01547 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 322701 chr21 46354975 46354975 C T rs61741570 LINC01547 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322702 chr21 46876716 46876716 C T rs60098805 COL18A1 Synonymous SNV G424G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.177 322703 chr2 61415485 61415485 C T USP34 Nonsynonymous SNV E3465K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 322704 chr2 63175941 63175941 C T rs757656048 EHBP1 Synonymous SNV L654L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.812 322705 chr21 47847575 47847575 C G PCNT Nonsynonymous SNV L2336V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 322706 chr21 48071891 48071891 T A rs75296610 PRMT2 Nonsynonymous SNV H276Q 0 0 0.007 0 0 0 0 2 0 0 1 0 9.883 322707 chr22 17990875 17990875 T G rs61745636 CECR2 Nonsynonymous SNV L138V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 322708 chr22 18022373 18022373 C T rs114626178 CECR2 Synonymous SNV A684A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.68 322709 chr22 18027977 18027977 A G rs10427665 CECR2 Synonymous SNV T836T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 322710 chr14 105996034 105996034 C G TMEM121 Nonsynonymous SNV P288R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.537 322711 chr21 45773718 45773718 G A rs770180377 TRPM2 Synonymous SNV R45R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.609 322712 chr22 19502488 19502488 G A rs148062883 CDC45 Nonsynonymous SNV G407S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 322713 chr14 20612659 20612659 T A rs370242839 OR4N5 Synonymous SNV I255I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.849 322714 chr13 20413018 20413018 C T ZMYM5 Nonsynonymous SNV A232T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 322715 chr2 74699338 74699338 C T MRPL53 Nonsynonymous SNV A83T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 322716 chr2 74709270 74709270 G A rs376698702 CCDC142 Nonsynonymous SNV T232M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.7 322717 chr2 75916150 75916150 A G GCFC2 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 322718 chr2 84924797 84924797 G A DNAH6 Synonymous SNV A2541A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.89 322719 chr22 19005844 19005844 G C rs140153867 DGCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 0.206 322720 chr14 23103134 23103134 C T rs761836394 OR6J1 Nonsynonymous SNV E195K 0 0 0 1 0 0 0.003 0 0 0 0 0 33 322721 chr22 26861483 26861483 A G rs35126034 HPS4 Synonymous SNV P242P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.009 322722 chr13 34392333 34392333 C T rs369722964 RFC3 Synonymous SNV D6D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.74 322723 chr14 23512017 23512017 G A rs372279769 PSMB11 Nonsynonymous SNV D195N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.11 322724 chr22 22869045 22869045 C T rs751733532 ZNF280A Nonsynonymous SNV V304M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 322725 chr2 98427608 98427608 T A TMEM131 Nonsynonymous SNV I651F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 322726 chr2 98428939 98428939 G A TMEM131 Nonsynonymous SNV T603I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.85 322727 chr22 30831621 30831621 T G rs114216438 LOC105372990 0 0 0.003 0 0 0 0 1 0 0 0 0 6.55 322728 chr22 30887952 30887952 A G rs145596609 SEC14L4 Synonymous SNV Y260Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 322729 chr22 22869854 22869854 T C rs377531140 ZNF280A Nonsynonymous SNV Y34C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.657 322730 chr14 23992621 23992621 G A rs932773468 ZFHX2 Nonsynonymous SNV A2177V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 322731 chr14 24529927 24529927 G A CARMIL3 Nonsynonymous SNV A718T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 322732 chr22 30984027 30984027 T C rs145793093 PES1 Nonsynonymous SNV N80S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.078 322733 chr14 24662022 24662022 G T rs774945508 TM9SF1 Synonymous SNV R267R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.634 322734 chr22 31479234 31479234 G A rs11913760 SMTN Nonsynonymous SNV G51E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.966 322735 chr22 31688288 31688288 G A rs146004330 PIK3IP1 Nonsynonymous SNV L15F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 322736 chr22 32007264 32007264 A T rs61743940 SFI1 Nonsynonymous SNV H742L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.5 322737 chr22 32229935 32229935 A G rs16989536 DEPDC5 Synonymous SNV L635L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.628 322738 chr22 32330221 32330221 A T rs185771802 C22orf24 Synonymous SNV T189T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 322739 chr13 47263286 47263286 G A rs766707360 LRCH1 Synonymous SNV S323S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 322740 chr22 30642566 30642566 C T LOC91370 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 322741 chr2 38179285 38179285 C T rs527857867 RMDN2 Synonymous SNV D309D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.584 322742 chr2 44105023 44105023 A C ABCG8 Nonsynonymous SNV I664L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 322743 chr22 37462210 37462210 G A rs73886915 TMPRSS6 Synonymous SNV S773S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.85 322744 chr2 45169445 45169445 G T SIX3 Nonsynonymous SNV G68C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 322745 chr2 48915862 48915862 G A LHCGR Synonymous SNV G358G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.041 322746 chr22 37964383 37964383 C T rs10427607 CDC42EP1 Synonymous SNV N244N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.715 322747 chr22 31533854 31533854 C T rs201103493 PLA2G3 Nonsynonymous SNV R303Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.136 322748 chr22 38120335 38120335 A G rs764911741 TRIOBP Nonsynonymous SNV N591S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322749 chr22 38130521 38130521 C T rs28450766 TRIOBP Nonsynonymous SNV P1393L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.6 322750 chr22 38167706 38167706 T C rs61737841 TRIOBP Nonsynonymous SNV V587A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.6 322751 chr22 38379444 38379444 C T rs138681658 SOX10 Synonymous SNV Q116Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 322752 chr22 38477371 38477371 G C rs374567790 SLC16A8 Nonsynonymous SNV A225G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.542 322753 chr22 39224357 39224357 C T rs145832617 NPTXR Nonsynonymous SNV R262Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 322754 chr22 39483078 39483078 G A rs148267053 APOBEC3G Nonsynonymous SNV G296R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.61 322755 chr2 62450168 62450168 C T B3GNT2 Synonymous SNV F271F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.407 322756 chr14 60027933 60027933 T C CCDC175 Nonsynonymous SNV H286R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 322757 chr22 43567861 43567861 C T rs17003543 TTLL12 Synonymous SNV T513T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.06 322758 chr22 43579012 43579012 G A rs75721440 TTLL12 Synonymous SNV S107S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 322759 chr22 43933329 43933329 G A rs138556471 EFCAB6 Nonsynonymous SNV R1174C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 322760 chr22 44342181 44342183 CTT - rs147312179 PNPLA3 F457del 0 0 0.003 0 0 0 0 1 0 0 0 0 322761 chr2 152470829 152470829 G A rs376268872 NEB Synonymous SNV D3611D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.887 322762 chr22 42475827 42475827 C T SMDT1 Nonsynonymous SNV L19F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 322763 chr14 65216156 65216156 G C SPTB Synonymous SNV T2285T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.59 322764 chr14 68045259 68045259 G A rs188731260 PLEKHH1 Synonymous SNV Q920Q 0 0 0 1 0 0 0.003 0 0 0 0 0 9.878 322765 chr14 70515576 70515576 A G rs147788335 SLC8A3 Nonsynonymous SNV I129T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 322766 chr2 74756583 74756583 C A rs370173846 AUP1 Nonsynonymous SNV A32S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 322767 chr14 73989005 73989005 C T rs781524360 HEATR4 Synonymous SNV K284K 0 0 0 1 0 0 0.003 0 0 0 0 0 5.836 322768 chr14 74413128 74413128 T C rs754340763 FAM161B Nonsynonymous SNV R79G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.434 322769 chr22 50170743 50170743 G A rs114483505 BRD1 Synonymous SNV R1015R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.53 322770 chr22 50187715 50187715 C T rs78921765 BRD1 Nonsynonymous SNV G771R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.43 322771 chr22 50313846 50313846 G A rs111385776 CRELD2 Synonymous SNV K122K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 322772 chr2 167262404 167262404 G A rs202047112 SCN7A Nonsynonymous SNV L1579F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.4 322773 chr22 50470228 50470228 G A TTLL8 Nonsynonymous SNV H548Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.33 322774 chr22 50279802 50279802 C T rs749694326 ZBED4 Nonsynonymous SNV T831M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 322775 chr14 20666173 20666173 - G rs200369516 OR11G2 Frameshift insertion C227Wfs*77 0.001 0 0 0 1 0 0 0 0 0 0 0 322776 chr22 50523273 50523273 C T rs766921234 MLC1 Nonsynonymous SNV R20Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 322777 chr22 50719860 50719860 C T rs80199648 PLXNB2 Synonymous SNV P1197P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.63 322778 chr22 50885795 50885795 T C rs192771726 SBF1 Nonsynonymous SNV T1822A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.96 322779 chr22 50900855 50900855 G A rs73441480 SBF1 Synonymous SNV D726D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.638 322780 chr22 50941934 50941934 G A rs754249521 LMF2 Synonymous SNV S645S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.422 322781 chr22 50957625 50957625 C G rs35941723 NCAPH2 Nonsynonymous SNV S246C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 322782 chr22 50960988 50960988 C T rs80181807 NCAPH2 Synonymous SNV A456A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.09 322783 chr22 50857832 50857832 G T rs149262092 PPP6R2 Nonsynonymous SNV E262D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.89 322784 chr22 50967935 50967935 G A rs34375653 TYMP Synonymous SNV G68G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.61 322785 chr2 100052299 100052299 T G rs779606417 REV1 Nonsynonymous SNV K440Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 322786 chr2 36623835 36623835 A G CRIM1 Nonsynonymous SNV N137S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 322787 chr2 99977751 99977751 G A rs755059876 EIF5B Synonymous SNV P129P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.561 322788 chr2 101869873 101869873 C T rs535809460 CNOT11 Synonymous SNV F149F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 322789 chr14 93460301 93460301 C T rs755820884 ITPK1 Synonymous SNV P96P 0 0 0 1 0 0 0.003 0 0 0 0 0 18.48 322790 chr2 102476319 102476319 C T rs200603698 MAP4K4 Nonsynonymous SNV A566V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 322791 chr2 102642670 102642670 C T rs151307899 IL1R2 Nonsynonymous SNV H329Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 322792 chr2 179438859 179438859 G A rs776538231 TTN Synonymous SNV I14935I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.19 322793 chr14 95599772 95599772 G C DICER1 Synonymous SNV P8P 0 0 0 1 0 0 0.003 0 0 0 0 0 2.889 322794 chr2 109088275 109088275 G A rs147227525 GCC2 Synonymous SNV K830K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.263 322795 chr2 113765544 113765544 G A rs28947175 IL36A Nonsynonymous SNV G134R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 322796 chr2 120003324 120003324 G A rs144377604 STEAP3 Synonymous SNV P84P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.477 322797 chr2 120020814 120020814 G A rs139180247 STEAP3 Nonsynonymous SNV R456H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 322798 chr2 120231106 120231106 C T rs6726491 SCTR Nonsynonymous SNV D110N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.77 322799 chr2 128341813 128341813 T C rs61742021 MYO7B Nonsynonymous SNV I487T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 322800 chr2 186658899 186658899 G C rs201278788 FSIP2 Nonsynonymous SNV A2346P 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 322801 chr15 102346034 102346034 A G rs757513659 OR4F6 Nonsynonymous SNV S38G 0 0.003 0 0 0 1 0 0 0 0 0 0 4.363 322802 chr2 121726449 121726449 C T rs146992756 GLI2 Nonsynonymous SNV A268V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 28.7 322803 chr2 122203044 122203044 C T CLASP1 Synonymous SNV E647E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 322804 chr2 128522175 128522175 G A rs10192518 WDR33 Synonymous SNV L285L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 322805 chr2 128938502 128938502 G C rs1048777217 UGGT1 Nonsynonymous SNV Q1313H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 322806 chr2 131116973 131116973 G A rs74409947 PTPN18 Nonsynonymous SNV V95M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.754 322807 chr2 131785558 131785558 C T rs141451411 ARHGEF4 Synonymous SNV D1342D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.576 322808 chr2 135893192 135893192 C T rs559230629 RAB3GAP1 Nonsynonymous SNV A538V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 322809 chr2 141032113 141032113 C G rs771700817 LRP1B Nonsynonymous SNV G4341A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 322810 chr2 136566320 136566320 C T rs79326512 LCT Synonymous SNV A1199A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.641 322811 chr2 136575412 136575412 G A rs148959696 LCT Synonymous SNV A402A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.75 322812 chr2 144899591 144899591 C A rs115333974 GTDC1 Nonsynonymous SNV V127F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.889 322813 chr14 52521003 52521003 G A rs115898358 NID2 Synonymous SNV F268F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.693 322814 chr14 52534810 52534810 G A rs7146229 NID2 Synonymous SNV P100P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.12 322815 chr2 200193571 200193571 T C rs767544833 SATB2 Synonymous SNV L412L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.83 322816 chr2 152506811 152506811 C T rs61730780 NEB Nonsynonymous SNV R2437Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 33 322817 chr14 56108429 56108429 A T rs140464911 KTN1 Nonsynonymous SNV K708I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 322818 chr14 56108430 56108430 A C rs145880665 KTN1 Nonsynonymous SNV K708N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 322819 chr2 203978012 203978012 C T NBEAL1 Nonsynonymous SNV P797L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 322820 chr2 158401105 158401105 T C rs6746788 ACVR1C Synonymous SNV Q108Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.954 322821 chr2 158406849 158406849 T G rs77124201 ACVR1C Synonymous SNV I120I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.27 322822 chr2 204822530 204822530 A G rs148435889 ICOS Synonymous SNV S170S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 3.805 322823 chr2 160735190 160735190 C A rs115254354 LY75, LY75-CD302 Nonsynonymous SNV D520Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.3 322824 chr2 160735191 160735191 C A rs114727644 LY75, LY75-CD302 Nonsynonymous SNV E519D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.792 322825 chr2 163241247 163241247 C G rs141527251 KCNH7 Synonymous SNV V971V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.468 322826 chr2 163374269 163374269 T C rs145688877 KCNH7 Nonsynonymous SNV N288S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.187 322827 chr2 207621960 207621960 C T rs149410093 MDH1B 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 322828 chr2 166245332 166245332 C T rs527751305 SCN2A Synonymous SNV F1672F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.684 322829 chr2 166245338 166245338 C T rs186157680 SCN2A Synonymous SNV Y1674Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.112 322830 chr2 167144984 167144984 A T rs200415928 SCN9A Nonsynonymous SNV M426K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.3 322831 chr2 167263094 167263094 G T rs368257278 SCN7A Nonsynonymous SNV L1349I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 322832 chr2 168101944 168101944 C T rs199938643 XIRP2 Stop gain R1126X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 322833 chr15 42979145 42979145 A G STARD9 Nonsynonymous SNV Q1790R 0 0 0 1 0 0 0.003 0 0 0 0 0 3.852 322834 chr2 169870015 169870015 C T rs140587295 ABCB11 Synonymous SNV R52R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.2 322835 chr2 169938323 169938323 C T rs61995931 DHRS9 Nonsynonymous SNV R78C 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 322836 chr15 43701205 43701205 A G rs61757239 TP53BP1 Synonymous SNV C1828C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 5.079 322837 chr2 170099474 170099474 G A rs144723964 LRP2 Nonsynonymous SNV A1220V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.53 322838 chr2 170502588 170502588 A G rs142156308 CCDC173 Synonymous SNV Y474Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.142 322839 chr2 176957689 176957689 C T HOXD13 Nonsynonymous SNV A24V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 322840 chr15 45439691 45439691 C T rs146747045 DUOX1 Nonsynonymous SNV R795W 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 26.3 322841 chr14 73711347 73711347 T G rs986349651 LOC101928123 0.002 0 0 0 2 0 0 0 0 0 0 0 14.74 322842 chr2 172952859 172952859 C G rs73976550 DLX1 Synonymous SNV P214P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 322843 chr2 173292642 173292642 C A ITGA6 Nonsynonymous SNV S42R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 322844 chr2 102038824 102038824 C T rs144676294 RFX8 Nonsynonymous SNV M61I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.98 322845 chr2 178346854 178346854 C G rs115580413 AGPS Synonymous SNV G391G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.27 322846 chr2 179226431 179226431 A G rs145291582 OSBPL6 Synonymous SNV A361A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.457 322847 chr15 52497393 52497393 G A rs374194841 CERNA1 0 0 0 1 0 0 0.003 0 0 0 0 0 5.749 322848 chr2 179485919 179485919 G A rs61004744 TTN Synonymous SNV L6111L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.165 322849 chr2 182347315 182347315 A G ITGA4 Synonymous SNV G326G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 322850 chr15 57484356 57484356 T C rs757459436 TCF12 Nonsynonymous SNV S131P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 322851 chr2 179583456 179583456 G A rs113391261 TTN Synonymous SNV G6913G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 3.178 322852 chr2 179593702 179593702 C T TTN Nonsynonymous SNV D5111N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 322853 chr2 179605727 179605727 G A rs80136515 TTN Nonsynonymous SNV T3715I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.028 322854 chr2 179640238 179640238 A G rs56404770 TTN Nonsynonymous SNV I2072T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.323 322855 chr2 179646984 179646984 T A rs540783675 TTN Nonsynonymous SNV H1066L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 322856 chr2 120677811 120677811 G C PTPN4 Nonsynonymous SNV R332P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.9 322857 chr2 183821297 183821297 A C NCKAP1 Synonymous SNV L682L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.618 322858 chr15 65369444 65369444 G A rs914591905 KBTBD13 Synonymous SNV L97L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 322859 chr2 192700758 192700758 G C CAVIN2 Nonsynonymous SNV A390G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 322860 chr2 192700863 192700863 G C rs955461870 CAVIN2 Nonsynonymous SNV A355G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.901 322861 chr2 186665672 186665672 T C rs534609745 FSIP2 Nonsynonymous SNV I3880T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 322862 chr2 186666414 186666414 A C rs192275221 FSIP2 Synonymous SNV L4127L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.062 322863 chr15 67547255 67547255 C T rs140241627 IQCH Synonymous SNV N7N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.232 322864 chr15 66995702 66995702 G A rs773308777 SMAD6 Nonsynonymous SNV D36N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.91 322865 chr15 68631913 68631913 C T rs562286619 ITGA11 Nonsynonymous SNV G401R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 322866 chr2 231326126 231326126 A G rs774900922 SP100 Nonsynonymous SNV I299V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.057 322867 chr2 189599245 189599245 G A rs924000994 DIRC1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.91 322868 chr2 202965148 202965148 C T KIAA2012 Synonymous SNV T377T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.275 322869 chr2 189861899 189861899 T C rs80302667 COL3A1 Synonymous SNV P590P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.24 322870 chr2 204305926 204305926 T C rs201446645 RAPH1 Nonsynonymous SNV M663V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 322871 chr2 202939773 202939773 G A KIAA2012 Nonsynonymous SNV A82T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 322872 chr2 190640434 190640434 G A rs13418158 ORMDL1 Synonymous SNV Y61Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 322873 chr2 192160939 192160939 C T rs16833579 MYO1B Synonymous SNV L80L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.4 322874 chr2 1926671 1926671 C T rs369668763 MYT1L Synonymous SNV S290S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.059 322875 chr2 198281489 198281489 T C rs35548172 SF3B1 Synonymous SNV K214K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.091 322876 chr2 198361866 198361866 C T rs61755731 HSPD1 Nonsynonymous SNV R142K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 322877 chr2 201354922 201354922 G C rs142017026 KCTD18 Synonymous SNV P394P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.814 322878 chr2 201943744 201943747 CGGT - rs754835124 NDUFB3 R47Qfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 322879 chr15 75687046 75687046 T C rs532044975 SIN3A Nonsynonymous SNV N751S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 322880 chr15 76020019 76020019 A T DNM1P35 0.001 0 0 0 1 0 0 0 0 0 0 0 1.845 322881 chr2 203818770 203818770 T C rs35438756 CARF Nonsynonymous SNV V69A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.039 322882 chr2 209358276 209358276 A C PTH2R Nonsynonymous SNV E312D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.864 322883 chr15 100942927 100942927 A G rs201602377 CERS3 Synonymous SNV H381H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 322884 chr2 209307098 209307098 T C rs774281952 PTH2R Nonsynonymous SNV F30L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 322885 chr2 206610565 206610565 G A rs148769922 NRP2 Synonymous SNV S579S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.956 322886 chr2 206614462 206614462 G A rs145565386 NRP2 Synonymous SNV T600T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.31 322887 chr15 78825688 78825688 G A rs146515257 HYKK Synonymous SNV V266V 0 0 0 1 0 0 0.003 0 0 0 0 0 8.191 322888 chr2 207174438 207174438 G A rs115515389 ZDBF2 Nonsynonymous SNV R1729H 0 0 0.007 0 0 0 0 2 0 0 0 0 1.777 322889 chr2 211452796 211452796 C T rs138724401 CPS1 Synonymous SNV Y212Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.44 322890 chr2 216259351 216259351 G T FN1 Stop gain C1232X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 322891 chr2 208632528 208632528 A G rs151287962 FZD5 Synonymous SNV P312P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.589 322892 chr15 80263102 80263102 A G rs375445253 BCL2A1 Synonymous SNV Y120Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 322893 chr2 209113296 209113296 C T rs73070954 IDH1 Nonsynonymous SNV V71I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.24 322894 chr2 209358034 209358034 G A rs77919204 PTH2R Nonsynonymous SNV V324M 0 0 0.003 0 0 0 0 1 0 0 0 0 7.483 322895 chr2 219513640 219513640 C T rs566273877 ZNF142 Nonsynonymous SNV E331K 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 322896 chr2 219674300 219674300 G A rs200604732 CYP27A1 Nonsynonymous SNV V86M 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign/Likely benign 12.01 322897 chr2 210840844 210840844 G A rs192024023 UNC80 Synonymous SNV A2797A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.882 322898 chr2 211319986 211319986 G A rs138444585 LANCL1 Synonymous SNV Y84Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.132 322899 chr2 211523343 211523343 G T rs115897023 CPS1 Nonsynonymous SNV K1229N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.9 322900 chr15 84651225 84651225 G A rs187171009 ADAMTSL3 Nonsynonymous SNV D949N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 322901 chr2 21225597 21225597 A T rs61743299 APOB Nonsynonymous SNV S4233T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.006 322902 chr2 21227528 21227528 G A rs12720852 APOB Synonymous SNV I3936I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.378 322903 chr2 21229860 21229860 A G rs12720855 APOB Nonsynonymous SNV S3294P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 322904 chr2 21232373 21232373 G T rs12713675 APOB Nonsynonymous SNV A2456D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.2 322905 chr2 219603491 219603491 G A rs746331015 TTLL4 Synonymous SNV L364L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.642 322906 chr2 216226755 216226755 G T FN1 Synonymous SNV P2227P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 322907 chr2 216946351 216946351 G A rs147111968 PECR Synonymous SNV L38L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.84 322908 chr2 218686529 218686529 G T rs77931866 TNS1 Nonsynonymous SNV T1044N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.22 322909 chr2 218751339 218751339 G A rs13419876 TNS1 Synonymous SNV S174S 0 0 0.003 0 0 0 0 1 0 0 0 0 17 322910 chr2 219204854 219204854 G A rs73990423 PNKD Nonsynonymous SNV R128Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21 322911 chr2 219544652 219544652 G A rs34027859 STK36 Nonsynonymous SNV D329N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.38 322912 chr2 219562304 219562304 C T rs79255300 STK36 Synonymous SNV C939C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 322913 chr2 224763684 224763684 C T WDFY1 Nonsynonymous SNV G197R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 322914 chr15 90164679 90164679 T A TICRR Nonsynonymous SNV F1069L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 322915 chr2 219942026 219942026 T A rs35270667 NHEJ1 Nonsynonymous SNV Q256L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.82 322916 chr2 219942898 219942898 C T NHEJ1 Nonsynonymous SNV G207R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 322917 chr2 220023045 220023045 C T rs34689457 NHEJ1 Nonsynonymous SNV A14T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.2 322918 chr2 220034251 220034251 C G rs79578215 SLC23A3 Nonsynonymous SNV M104I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.326 322919 chr2 231103562 231103562 G T rs764736391 SP140 Nonsynonymous SNV G165C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.699 322920 chr2 231118051 231118051 A T rs768395234 SP140 Nonsynonymous SNV T360S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 322921 chr15 42731444 42731444 G C rs774995710 ZNF106 Nonsynonymous SNV S606W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 322922 chr15 91550213 91550218 GCCTTC - VPS33B R194_R195del 0 0 0 1 0 0 0.003 0 0 0 0 0 322923 chr2 220427254 220427254 G A rs61732790 OBSL1 Synonymous SNV S941S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.87 322924 chr2 220480033 220480033 T C rs73089157 STK11IP Synonymous SNV P1029P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 322925 chr2 220493236 220493236 C T rs73072582 SLC4A3 Nonsynonymous SNV P54L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 322926 chr3 12977245 12977245 C T rs142922898 IQSEC1 Nonsynonymous SNV R424Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 322927 chr2 227660234 227660234 C T rs146268112 IRS1 Nonsynonymous SNV R1074Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 322928 chr15 45658255 45658255 G C rs777371743 GATM Nonsynonymous SNV P323A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.92 322929 chr15 50853998 50853998 C T rs535639128 TRPM7 Synonymous SNV K1824K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.08 322930 chr2 238485934 238485934 G A rs201963999 RAB17 Nonsynonymous SNV T134M 0.001 0 0 1 1 0 0.003 0 0 0 0 0 22.5 322931 chr2 239054422 239054423 CG - KLHL30 R367Hfs*29 0 0 0.003 0 0 0 0 1 0 0 0 0 322932 chr16 14758854 14758854 C T rs771938473 BFAR Synonymous SNV L237L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.13 322933 chr3 33135318 33135318 C T TMPPE Nonsynonymous SNV A124T 0 0 0 1 0 0 0.003 0 0 0 0 0 22 322934 chr2 234184538 234184538 A G rs200060663 SCARNA5 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 322935 chr16 16244585 16244585 C T rs63751262 ABCC6 Nonsynonymous SNV R1418Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 34 322936 chr16 17202693 17202693 C T rs750871331 XYLT1 Nonsynonymous SNV M913I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.99 322937 chr3 38157991 38157991 C T rs754911372 DLEC1 Nonsynonymous SNV R1305W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 322938 chr2 241889808 241889808 C A rs374750769 CROCC2 Nonsynonymous SNV Q904K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 322939 chr2 242080117 242080117 C T rs200411100 PASK Nonsynonymous SNV C83Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 322940 chr16 19481129 19481129 T C rs145413285 TMC5 Synonymous SNV N342N 0 0 0 1 0 0 0.003 0 0 0 0 0 3.505 322941 chr2 23865369 23865369 C G rs191820463 KLHL29 Nonsynonymous SNV L197V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.61 322942 chr16 19621671 19621671 G A rs149360565 VPS35L Synonymous SNV L319L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.793 322943 chr16 20327321 20327321 G A rs115115341 GP2 Synonymous SNV I339I 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 7.635 322944 chr2 26457214 26457214 G A rs559608103 HADHA Synonymous SNV A108A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 322945 chr16 20792388 20792388 G A rs52817836 ACSM3 Stop gain W292X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 322946 chr16 20974857 20974857 T C rs61744658 DNAH3 Nonsynonymous SNV Y3404C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 322947 chr16 21042467 21042467 G A rs79095383 DNAH3 Nonsynonymous SNV A1734V 0 0 0 1 0 0 0.003 0 0 0 0 0 27 322948 chr16 21721338 21721338 G A rs775318682 OTOA Nonsynonymous SNV G88R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.579 322949 chr2 241816990 241816990 G A rs13408961 AGXT Nonsynonymous SNV A295T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.606 322950 chr15 67757614 67757614 C T IQCH Synonymous SNV C478C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.743 322951 chr16 22162102 22162102 A C rs146655430 VWA3A Nonsynonymous SNV E1072D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.59 322952 chr16 22337258 22337258 G A rs141715155 POLR3E Nonsynonymous SNV D473N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.13 322953 chr2 242009525 242009525 G A rs186778143 SNED1 Synonymous SNV P1166P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.648 322954 chr2 242011025 242011025 G A rs73110197 SNED1 Synonymous SNV Q1208Q 0 0 0.007 0 0 0 0 2 0 0 1 0 8.013 322955 chr2 242012759 242012759 A G rs6708120 SNED1 Nonsynonymous SNV H1299R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.993 322956 chr2 242035491 242035493 ATT - rs544540766 MTERF4 N168del 0 0 0.003 0 0 0 0 1 0 0 0 0 322957 chr2 242035525 242035530 TCATCC - rs11277653 MTERF4 E155_D156del 0 0 0.003 0 0 0 0 1 0 0 0 0 322958 chr2 242054533 242054533 G A rs6728223 PASK Synonymous SNV S1086S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.526 322959 chr2 242065799 242065799 G T rs36082918 PASK Nonsynonymous SNV P844Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 322960 chr2 242065986 242065986 C G rs142426138 PASK Nonsynonymous SNV G782R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.8 322961 chr15 73995369 73995369 C T rs368756883 CD276 Synonymous SNV P79P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.55 322962 chr2 242072306 242072306 T G rs55979651 PASK Synonymous SNV S482S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 322963 chr15 73996149 73996150 CA - CD276 H149Qfs*96 0.001 0 0 0 1 0 0 0 0 0 0 0 322964 chr15 74000702 74000702 A C rs1015331914 CD276 Synonymous SNV P246P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 322965 chr2 242946388 242946388 G T LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 4.756 322966 chr2 242946516 242946516 G T rs540495953 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 6.604 322967 chr2 25611186 25611186 G A rs748755697 DTNB Synonymous SNV G329G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.149 322968 chr2 26410540 26410540 C A rs544952908 GAREM2 Nonsynonymous SNV P680H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.1 322969 chr15 77472781 77472781 G A rs371746878 PEAK1 Synonymous SNV P496P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.355 322970 chr2 33952057 33952057 G T rs549354080 MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 322971 chr2 33952371 33952371 G A rs755903066 MYADML 0 0 0.003 0 0 0 0 1 0 0 0 0 6.067 322972 chr16 30017965 30017965 C T rs796885773 DOC2A Synonymous SNV K304K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.659 322973 chr16 30017986 30017986 G T rs376074837 DOC2A Synonymous SNV P297P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 322974 chr2 26686838 26686838 G A rs12386239 OTOF Synonymous SNV I1009I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.24 322975 chr2 26687828 26687828 G A rs61744000 OTOF Synonymous SNV G933G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.17 322976 chr2 26696373 26696373 C A rs61742191 OTOF Synonymous SNV R467R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 18.94 322977 chr15 78882402 78882402 A G CHRNA5 Synonymous SNV A223A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.399 322978 chr2 27429367 27429367 T C rs143122507 SLC5A6 Synonymous SNV S165S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.301 322979 chr2 27801127 27801127 T C rs77365769 C2orf16 Nonsynonymous SNV V563A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 322980 chr3 17131354 17131354 C T rs765344705 PLCL2 Nonsynonymous SNV R986W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 322981 chr2 42671333 42671333 T C KCNG3 Nonsynonymous SNV E351G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.29 322982 chr2 47043872 47043872 G A LINC01118 0 0 0.003 0 0 0 0 1 0 0 0 0 0.568 322983 chr15 84639289 84639289 G C rs765204256 ADAMTSL3 Nonsynonymous SNV R848S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 322984 chr2 29296355 29296355 C A rs116156338 PCARE Nonsynonymous SNV R258I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.2 322985 chr2 29296388 29296388 A G rs77828062 PCARE Nonsynonymous SNV V247A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.37 322986 chr2 29296762 29296762 A G rs17007546 PCARE Synonymous SNV H122H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.005 322987 chr2 29416117 29416117 C T rs78174819 ALK Synonymous SNV K544K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.45 322988 chr3 37146975 37146975 G A rs200677203 LRRFIP2 Nonsynonymous SNV R142C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 322989 chr2 31564250 31564250 G A rs148972840 XDH Nonsynonymous SNV T1177I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 322990 chr2 33623566 33623566 C T rs141171373 LTBP1 Nonsynonymous SNV P1339L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 322991 chr16 4390324 4390324 G A rs148571756 CORO7-PAM16, PAM16 Nonsynonymous SNV T125M 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 322992 chr2 36749369 36749369 G A rs59929305 CRIM1 Nonsynonymous SNV V781I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.493 322993 chr2 37235845 37235845 T C rs762474415 HEATR5B Synonymous SNV L1477L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.93 322994 chr16 4748578 4748578 G A rs377174585 ANKS3 Nonsynonymous SNV T352M 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 322995 chr15 89382053 89382053 G A rs199701329 ACAN Nonsynonymous SNV R77H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 21.3 322996 chr2 37516550 37516550 G C rs368473424 PRKD3 Synonymous SNV L222L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 322997 chr2 228135564 228135564 G A COL4A3 Nonsynonymous SNV V552I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.56 322998 chr2 39997057 39997057 T C rs61910750 THUMPD2 Nonsynonymous SNV I155M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.775 322999 chr2 42281413 42281413 A G rs140379807 PKDCC Nonsynonymous SNV M334V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 323000 chr2 68385590 68385590 T C rs201777481 PNO1 Nonsynonymous SNV F96L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 323001 chr3 39453525 39453525 T C rs747760223 RPSA Nonsynonymous SNV S261P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 323002 chr2 42580422 42580422 A C rs138829184 COX7A2L Nonsynonymous SNV L42R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 323003 chr3 40293402 40293402 C T rs200695832 MYRIP Nonsynonymous SNV T633I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 323004 chr3 41746557 41746557 G A rs200908650 ULK4 Nonsynonymous SNV R623C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 323005 chr16 4942075 4942075 T C rs780831129 PPL Nonsynonymous SNV Y597C 0 0 0 1 0 0 0.003 0 0 0 0 0 19.8 323006 chr2 43778956 43778956 T C rs374213349 THADA Synonymous SNV E973E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.38 323007 chr3 58095037 58095037 C G FLNB Nonsynonymous SNV H729Q 0 0 0 1 0 0 0.003 0 0 0 0 0 15.23 323008 chr3 58394699 58394699 G C PXK Nonsynonymous SNV E290Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 323009 chr2 43991384 43991384 T C rs34587045 PLEKHH2 Synonymous SNV Y1392Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.264 323010 chr2 44187733 44187733 G C rs115693730 LRPPRC Nonsynonymous SNV A510G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 323011 chr16 56226174 56226174 G A rs139334934 GNAO1 Synonymous SNV E9E 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.45 323012 chr2 50733709 50733709 G A rs115211871 NRXN1 Synonymous SNV N770N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.84 323013 chr3 77681772 77681772 G A ROBO2 Nonsynonymous SNV G1307D 0 0 0 1 0 0 0.003 0 0 0 0 0 19.56 323014 chr2 54877114 54877114 T G SPTBN1 Synonymous SNV A1842A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.496 323015 chr3 45637060 45637060 G A rs773858656 LIMD1 Nonsynonymous SNV R230Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.194 323016 chr2 61121570 61121570 A G rs6729789 REL Synonymous SNV T64T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.267 323017 chr2 80530264 80530264 G A rs78127943 LRRTM1 Synonymous SNV A227A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.672 323018 chr2 65298657 65298657 A G rs13389745 CEP68 Nonsynonymous SNV I143V 0 0 0.007 0 0 0 0 2 0 0 0 0 0.002 323019 chr2 65298806 65298806 G A rs1055676 CEP68 Synonymous SNV Q192Q 0 0 0.007 0 0 0 0 2 0 0 0 0 7.172 323020 chr2 69049803 69049803 G C rs72903633 ARHGAP25 Nonsynonymous SNV G504A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 323021 chr3 101375028 101375028 T C rs144024292 ZBTB11 Nonsynonymous SNV Q704R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 323022 chr16 67271560 67271560 C T rs755374138 FHOD1 Nonsynonymous SNV G252S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 323023 chr2 70910843 70910843 C A rs4982 ADD2 Nonsynonymous SNV E351D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.3 323024 chr3 48626402 48626402 T C COL7A1 Nonsynonymous SNV R781G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 323025 chr3 49336057 49336057 A G rs75305661 USP4 Synonymous SNV T461T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.121 323026 chr16 70501346 70501346 A C rs952069585 FCSK Nonsynonymous SNV N185T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.199 323027 chr3 100593684 100593684 - AATTAGTTCAAGACA rs766498505 ABI3BP 0 0 0.007 0 0 0 0 2 0 0 0 0 323028 chr2 74328796 74328796 C T rs115005250 TET3 Synonymous SNV G1534G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.557 323029 chr2 74867316 74867316 A G rs72909211 M1AP Synonymous SNV I29I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.904 323030 chr3 105470455 105470455 C T rs774346321 CBLB Nonsynonymous SNV V143I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 323031 chr3 52246336 52246336 C T rs150267990 ALAS1 Synonymous SNV Y554Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.98 323032 chr3 52378506 52378506 G A rs202217531 DNAH1 Synonymous SNV S429S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.15 323033 chr2 79254179 79254179 C G rs115709602 REG3G Nonsynonymous SNV P72R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 323034 chr16 75575303 75575303 C T rs139236786 TMEM231 Nonsynonymous SNV A292T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 323035 chr2 85661489 85661489 G A rs72936697 SH2D6 Nonsynonymous SNV R23Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.311 323036 chr3 4358912 4358912 T C rs1028444113 SETMAR Synonymous SNV N391N 0 0.003 0 0 0 1 0 0 0 0 0 0 1.823 323037 chr2 85981615 85981615 G T rs529898041 ATOH8 Synonymous SNV A101A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.274 323038 chr16 77353938 77353938 C T rs143353265 ADAMTS18 Synonymous SNV Q608Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.46 323039 chr3 113652470 113652470 T C rs376128249 GRAMD1C Nonsynonymous SNV I236T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.54 323040 chr2 97594963 97594963 C A rs113414411 FAM178B Synonymous SNV G391G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.169 323041 chr2 98319191 98319191 A C rs114141453 C2orf92 Nonsynonymous SNV H242P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.414 323042 chr2 98373762 98373762 G A rs199691225 TMEM131 Nonsynonymous SNV P1818S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 323043 chr3 67058422 67058422 G C rs762561282 KBTBD8 Nonsynonymous SNV Q473H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.05 323044 chr2 99860573 99860573 C T rs142688351 LYG2 Nonsynonymous SNV G137S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 323045 chr16 2222493 2222493 G A rs760492852 TRAF7 Synonymous SNV R229R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.53 323046 chr3 101572510 101572510 C T rs36003810 NFKBIZ Synonymous SNV S380S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.383 323047 chr3 108127232 108127232 T C rs9878261 MYH15 Synonymous SNV T1525T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.469 323048 chr3 108276139 108276139 T C rs13320710 CIP2A Synonymous SNV Q712Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.163 323049 chr3 108287049 108287049 G A rs9856308 CIP2A Nonsynonymous SNV T409I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.77 323050 chr3 108335504 108335504 C T rs12330782 DZIP3 Synonymous SNV T125T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 323051 chr3 108363342 108363342 G A rs761465822 DZIP3 Synonymous SNV P491P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 323052 chr3 108380982 108380982 C A rs80072641 DZIP3 Nonsynonymous SNV F767L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 323053 chr3 12200276 12200276 C T rs771705387 TIMP4 Nonsynonymous SNV R22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 323054 chr3 108406829 108406829 A G rs78216842 DZIP3 Synonymous SNV E1052E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.016 323055 chr3 108897033 108897033 C T rs148450926 LINC00488 0 0 0.003 0 0 0 0 1 0 0 0 0 2.749 323056 chr3 122605634 122605634 T C rs926305451 LINC02035 0 0 0.003 0 0 0 0 1 0 0 0 0 0.386 323057 chr3 111312445 111312445 A G rs34129684 ZBED2 Nonsynonymous SNV C202R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 323058 chr3 112738423 112738423 G A rs116311120 NEPRO Synonymous SNV S24S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 323059 chr16 30081162 30081162 C T rs111252736 ALDOA Synonymous SNV L271L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.095 323060 chr3 112993412 112993412 C T rs7615578 BOC Synonymous SNV P475P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 323061 chr16 30666162 30666162 G A rs770456962 PRR14 Nonsynonymous SNV A291T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.73 323062 chr16 30990693 30990693 - C SETD1A Frameshift insertion R1197Pfs*50 0.001 0 0 0 1 0 0 0 0 0 0 0 323063 chr16 30992092 30992092 C T rs756766457 SETD1A Synonymous SNV S1538S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 323064 chr3 119886466 119886466 C T GPR156 Nonsynonymous SNV V616M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.793 323065 chr3 121412749 121412749 G C rs144414434 GOLGB1 Nonsynonymous SNV D2127E 0 0 0.003 0 0 0 0 1 0 0 0 0 24 323066 chr3 121981215 121981215 A G rs12493789 CASR Nonsynonymous SNV T445A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.642 323067 chr3 123366122 123366122 T C MYLK Nonsynonymous SNV Q1347R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 323068 chr3 123458839 123458839 G A rs143896146 MYLK Nonsynonymous SNV A128V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.067 323069 chr3 124114139 124114139 T A rs376459385 KALRN Nonsynonymous SNV I705N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 323070 chr3 124560377 124560377 G A rs369862027 ITGB5 Synonymous SNV C103C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 323071 chr3 12610416 12610416 A G rs35388688 MKRN2 Synonymous SNV L23L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.866 323072 chr17 11607563 11607563 G A rs202049568 DNAH9 Nonsynonymous SNV G1732D 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 323073 chr16 50745102 50745102 C T rs766651775 NOD2 Nonsynonymous SNV P400L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 25.7 323074 chr3 127786398 127786398 C G rs141554195 SEC61A1 Synonymous SNV G370G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.511 323075 chr3 127379547 127379547 G A rs149151228 PODXL2 Nonsynonymous SNV G226R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 323076 chr3 128356666 128356666 G C rs115466774 RPN1 Nonsynonymous SNV F203L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 323077 chr3 12858345 12858345 C T rs532582492 CAND2 Synonymous SNV A545A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.464 323078 chr3 12868950 12868950 G A rs367848562 CAND2 Synonymous SNV G957G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.447 323079 chr3 129286397 129286397 G A rs774664636 PLXND1 Nonsynonymous SNV R1342C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 323080 chr3 150176352 150176352 C A rs149298464 TSC22D2 Nonsynonymous SNV Q734K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 323081 chr3 12942788 12942788 C T rs573868764 IQSEC1 Synonymous SNV L1013L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.031 323082 chr3 12942833 12942833 C T rs542687791 IQSEC1 Synonymous SNV P998P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 323083 chr17 17049400 17049400 C T rs143915051 MPRIP Synonymous SNV D550D 0 0 0 1 0 0 0.003 0 0 0 0 0 11.56 323084 chr17 17068181 17068181 C T rs556413458 MPRIP Synonymous SNV S1124S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.055 323085 chr3 154802033 154802033 C T rs1062487 MME Nonsynonymous SNV P26L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.461 323086 chr3 155200123 155200123 T C rs755401698 PLCH1 Nonsynonymous SNV K1231R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 323087 chr3 130283860 130283860 C T rs74824913 COL6A6 Synonymous SNV A228A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 323088 chr3 130284063 130284063 T C rs139500727 COL6A6 Nonsynonymous SNV I296T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.2 323089 chr3 130286039 130286039 C T rs148120219 COL6A6 Synonymous SNV Y592Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.7 323090 chr3 130422592 130422592 T A rs76558811 PIK3R4 Nonsynonymous SNV M1025L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.12 323091 chr17 17700157 17700157 G A rs750911924 RAI1 Nonsynonymous SNV D1299N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.018 323092 chr3 132360915 132360915 A T ACAD11 Stop gain Y146X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 323093 chr17 18045497 18045497 T G rs150403702 MYO15A Nonsynonymous SNV I1918M 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.17 323094 chr3 13383337 13383337 G A rs372427404 NUP210 Nonsynonymous SNV R1047C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 323095 chr17 18138825 18138825 G A rs758627562 LLGL1 Synonymous SNV P442P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.415 323096 chr3 164792356 164792356 A T rs377234225 SI Nonsynonymous SNV V73E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 323097 chr3 142840818 142840818 C G rs755171466 CHST2 Nonsynonymous SNV A387G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 323098 chr3 13860810 13860810 C T rs79543742 WNT7A Synonymous SNV V227V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.9 323099 chr3 179336239 179336239 G T rs147655607 NDUFB5 Nonsynonymous SNV D75Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 323100 chr3 141164114 141164114 G A rs75545796 ZBTB38 Nonsynonymous SNV V962M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.817 323101 chr3 1445085 1445085 A C rs75745489 CNTN6 Nonsynonymous SNV I920L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.35 323102 chr3 14799155 14799155 C T rs374324620 C3orf20 Nonsynonymous SNV R618W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 323103 chr3 148586742 148586742 C T rs75478109 CPA3 Nonsynonymous SNV A62V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 323104 chr3 148599357 148599357 C A rs141357361 CPA3 Synonymous SNV R209R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 323105 chr3 15115562 15115562 G A rs61739717 RBSN Synonymous SNV D694D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.02 323106 chr3 15475918 15475918 G A rs6772957 EAF1 Synonymous SNV T133T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.38 323107 chr16 72133672 72133672 C T rs202084485 DHX38 Synonymous SNV D334D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 13.91 323108 chr3 157271056 157271056 G T rs7616293 SLC66A1L Nonsynonymous SNV V4L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.033 323109 chr3 159943833 159943833 C T C3orf80 Synonymous SNV D137D 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 323110 chr4 876523 876523 G A rs527823947 GAK Nonsynonymous SNV R418W 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 323111 chr3 184290610 184290610 C T rs374662963 EPHB3 Nonsynonymous SNV R168W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 323112 chr16 7743362 7743362 C T RBFOX1 Synonymous SNV T368T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 323113 chr16 774410 774410 C G CCDC78 Nonsynonymous SNV E289Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 323114 chr3 195298212 195298212 G T rs762350501 APOD Synonymous SNV I90I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.83 323115 chr3 177159720 177159720 G A rs562780068 LINC00578 0 0 0.003 0 0 0 0 1 0 0 0 0 0.957 323116 chr4 1836605 1836605 G A rs146247493 LETM1 Synonymous SNV S281S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 13.05 323117 chr3 186980413 186980413 G A rs749150026 MASP1 Synonymous SNV G111G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.568 323118 chr3 182871667 182871667 G A rs114567398 LAMP3 Nonsynonymous SNV P188S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 323119 chr3 183368747 183368747 C T rs16857887 KLHL24 Synonymous SNV H201H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 323120 chr17 35310263 35310263 G A rs145557208 AATF Nonsynonymous SNV D121N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.37 323121 chr16 83999466 83999468 GAC - rs781509483 OSGIN1 D430del 0.001 0 0 0 1 0 0 0 0 0 0 0 323122 chr3 3179013 3179013 - GAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA rs746154279 TRNT1 Stop gain K74Rfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 323123 chr17 38073337 38073337 T C rs142509403 GSDMB Nonsynonymous SNV Q78R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.107 323124 chr3 186978659 186978659 A G rs72549252 MASP1 Synonymous SNV D139D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.136 323125 chr3 187088858 187088858 A G rs369020673 RTP4 Synonymous SNV E146E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.288 323126 chr16 87678513 87678513 C T rs8051490 JPH3 Synonymous SNV V344V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.39 323127 chr3 187897324 187897324 C T rs181519840 FLJ42393 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 323128 chr3 188327294 188327294 T C rs35940579 LPP Nonsynonymous SNV S259P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.902 323129 chr3 39230586 39230586 G A rs562962036 XIRP1 Synonymous SNV P117P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 323130 chr17 39092514 39092514 G T rs141604898 KRT23 Synonymous SNV G114G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.509 323131 chr3 190373856 190373856 G A rs116127803 IL1RAP Synonymous SNV P508P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.982 323132 chr3 190374230 190374230 A G rs74418158 IL1RAP Nonsynonymous SNV N633S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.475 323133 chr3 194080474 194080474 C A rs144761152 LRRC15 Synonymous SNV P433P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 323134 chr3 42906947 42906947 G A ACKR2 Nonsynonymous SNV R318H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 323135 chr3 42916282 42916282 C T rs759570260 CYP8B1 Nonsynonymous SNV V343M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 323136 chr3 44283843 44283843 C T rs13314833 TOPAZ1 Synonymous SNV L100L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.001 323137 chr3 44285929 44285929 C A TOPAZ1 Nonsynonymous SNV T644N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 323138 chr3 44308519 44308519 C T rs80211889 TOPAZ1 Synonymous SNV V1017V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 323139 chr3 195595534 195595534 G A rs112740728 TNK2 Synonymous SNV S562S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.386 323140 chr3 196388474 196388474 G A rs142890318 NRROS Nonsynonymous SNV V654M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 323141 chr3 44856499 44856499 A G rs77079961 KIF15 Nonsynonymous SNV N827S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.058 323142 chr3 44867592 44867592 C G rs114793043 KIF15 Nonsynonymous SNV Q871E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.4 323143 chr3 44882586 44882586 C G rs80007780 KIF15 Nonsynonymous SNV H1147Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.562 323144 chr3 44893288 44893288 A C rs17076986 KIF15 Nonsynonymous SNV E1272D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.1 323145 chr3 44903385 44903385 A G rs114636202 MIR564 0 0 0.003 0 0 0 0 1 0 0 0 0 6.686 323146 chr3 196743109 196743109 C T rs112676966 MELTF Synonymous SNV L344L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 323147 chr3 20216369 20216369 C T rs35175566 SGO1 Synonymous SNV G218G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.24 323148 chr3 45823705 45823705 C T rs201961518 SLC6A20 Synonymous SNV L44L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.33 323149 chr3 20216511 20216511 A G rs6806241 SGO1 Nonsynonymous SNV V171A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.054 323150 chr3 45996876 45996876 G A rs775300505 FYCO1 Nonsynonymous SNV T1270I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.89 323151 chr3 25656928 25656928 A G rs61733940 TOP2B Synonymous SNV D1162D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.095 323152 chr3 30715608 30715608 A G rs2228047 TGFBR2 Synonymous SNV A422A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.52 323153 chr3 3137053 3137053 A G rs17879690 IL5RA Nonsynonymous SNV V262A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.12 323154 chr3 31666442 31666442 C T rs34176522 STT3B Synonymous SNV Y588Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.98 323155 chr3 46620818 46620818 G A rs138710229 TDGF1 Nonsynonymous SNV R46Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.56 323156 chr3 32031167 32031167 C T rs368805853 ZNF860 Nonsynonymous SNV P199L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 323157 chr3 32529460 32529460 A G rs34329140 CMTM6 Synonymous SNV H128H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.079 323158 chr3 32612174 32612174 A C rs72860541 DYNC1LI1 Nonsynonymous SNV I30R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 323159 chr3 33134756 33134756 C T rs115075499 TMPPE Nonsynonymous SNV R311Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.307 323160 chr3 47163355 47163355 G A rs146058926 SETD2 Nonsynonymous SNV A880V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 323161 chr3 47455730 47455730 C T rs35628908 SCAP Synonymous SNV L922L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.54 323162 chr3 36779585 36779585 G T rs75314929 DCLK3 Nonsynonymous SNV A189E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.14 323163 chr3 37367889 37367889 C T rs12330866 GOLGA4 Synonymous SNV D1504D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.202 323164 chr3 37547501 37547501 G A rs145968481 ITGA9 Synonymous SNV V251V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.92 323165 chr3 47676706 47676706 G A SMARCC1 Nonsynonymous SNV L874F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 323166 chr3 37670698 37670698 C T rs145334938 ITGA9 Synonymous SNV I570I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 323167 chr3 37845418 37845418 C T rs17037007 ITGA9 Synonymous SNV A998A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.21 323168 chr3 48460413 48460413 C G rs577295906 PLXNB1 Synonymous SNV L956L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 323169 chr3 48505232 48505232 C T rs34426134 ATRIP Synonymous SNV L519L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.63 323170 chr17 1132863 1132863 G C rs566714770 ABR Nonsynonymous SNV P21R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 323171 chr3 48631978 48631978 G A rs74453879 COL7A1 Nonsynonymous SNV T30I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.1 323172 chr3 48677114 48677114 C G rs61729240 CELSR3 Nonsynonymous SNV D3302H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27.1 323173 chr3 48677416 48677416 C T rs115648137 CELSR3 Nonsynonymous SNV R3201Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 323174 chr3 48680252 48680252 G A rs61729238 CELSR3 Synonymous SNV G2824G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.67 323175 chr3 49059911 49059911 A C rs142033692 NDUFAF3 Synonymous SNV I70I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.291 323176 chr3 49373003 49373003 T C rs145007500 USP4 Nonsynonymous SNV K43R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 323177 chr3 49689184 49689184 G C rs376181418 BSN Nonsynonymous SNV R732P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.93 323178 chr4 20270489 20270489 C T SLIT2 Nonsynonymous SNV A127V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 323179 chr17 1371161 1371161 A G rs142283632 MYO1C Synonymous SNV H980H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.695 323180 chr17 1373558 1373558 G A rs77445493 MYO1C Nonsynonymous SNV R813C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 35 323181 chr17 42635965 42635965 C T rs7218045 FZD2 Synonymous SNV R303R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.8 323182 chr17 1494874 1494874 C T rs111416101 SLC43A2 Synonymous SNV E101E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.23 323183 chr17 43012710 43012710 A G rs764288603 KIF18B Nonsynonymous SNV Y130H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 323184 chr3 39225549 39225549 G C rs36091974 XIRP1 Synonymous SNV P479P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.769 323185 chr3 39228514 39228514 G A rs61736154 XIRP1 Nonsynonymous SNV S808L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.999 323186 chr3 39230320 39230320 C T rs149500349 XIRP1 Nonsynonymous SNV R206H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 29.5 323187 chr3 51667716 51667716 T A rs759898724 RAD54L2 Nonsynonymous SNV S317T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 323188 chr17 1587816 1587816 G A PRPF8 Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 323189 chr3 51864588 51864588 G A rs191082320 IQCF3 Nonsynonymous SNV R79Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.035 323190 chr4 17528561 17528561 T C rs180817213 CLRN2 Synonymous SNV Y185Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 323191 chr3 52523508 52523508 G A rs13315631 NISCH Synonymous SNV T1090T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.754 323192 chr4 20597446 20597446 C T rs141485155 SLIT2 Synonymous SNV P1099P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.11 323193 chr3 42742259 42742259 A G rs113502080 HHATL Synonymous SNV S20S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.149 323194 chr3 42742293 42742293 G C rs150423655 HHATL Nonsynonymous SNV A9G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 323195 chr17 18188818 18188818 A G rs146672820 TOP3A Synonymous SNV H443H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.209 323196 chr3 44856528 44856528 G A rs149747801 KIF15 Nonsynonymous SNV E837K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.91 323197 chr17 47589357 47589357 G A NGFR Nonsynonymous SNV V309M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 323198 chr3 45972668 45972668 G A rs34068905 FYCO1 Synonymous SNV A1382A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.29 323199 chr3 46008532 46008532 C T rs34266136 FYCO1 Nonsynonymous SNV R765H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.272 323200 chr3 46449751 46449751 C T rs142950457 CCRL2 Nonsynonymous SNV L73F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.239 323201 chr3 73453463 73453463 C T rs150891989 PDZRN3 Synonymous SNV Q32Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.734 323202 chr17 26687866 26687866 C T TMEM199 Nonsynonymous SNV A176V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 323203 chr3 5022090 5022090 T C rs115823750 BHLHE40 Synonymous SNV L85L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.628 323204 chr3 50231621 50231621 C T rs4688684 GNAT1 Synonymous SNV A225A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.64 323205 chr3 52551973 52551973 C T rs77803411 STAB1 Nonsynonymous SNV A1572V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.349 323206 chr3 52729960 52729960 C T rs2276812 GLT8D1 Nonsynonymous SNV R210H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 323207 chr4 110662144 110662144 G A rs113460688 CFI Nonsynonymous SNV P546S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 15.35 323208 chr17 65184709 65184709 T C rs370697131 HELZ Synonymous SNV V296V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.848 323209 chr17 65343533 65343533 G A PSMD12 Synonymous SNV C173C 0 0 0 1 0 0 0.003 0 0 0 0 0 10.07 323210 chr3 58368247 58368247 G A rs375318244 PXK Nonsynonymous SNV G37S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 323211 chr3 62253168 62253168 G A PTPRG 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 323212 chr17 35913458 35913458 C T rs540110584 SYNRG Synonymous SNV S628S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 323213 chr17 3627269 3627269 C T HASPIN Nonsynonymous SNV R14C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 323214 chr4 122075742 122075742 C T TNIP3 Synonymous SNV K152K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 323215 chr3 72861831 72861831 A G rs76052464 SHQ1 Synonymous SNV L351L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.124 323216 chr3 72890281 72890281 C T rs61734040 SHQ1 Nonsynonymous SNV C134Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.1 323217 chr3 72897467 72897467 T C rs79534835 SHQ1 Nonsynonymous SNV S9G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 27.6 323218 chr4 122737582 122737582 C T rs771001230 EXOSC9 Synonymous SNV D405D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 323219 chr3 74411057 74411057 C T rs200380587 CNTN3 Nonsynonymous SNV V450M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 323220 chr4 89574054 89574054 T C rs772349429 HERC3 Synonymous SNV H48H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.341 323221 chr3 86010739 86010739 A T rs61755734 CADM2 Synonymous SNV R295R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.728 323222 chr4 99960558 99960558 C T rs767001155 METAP1 Nonsynonymous SNV T125I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 323223 chr4 100573765 100573765 G A rs759797376 C4orf54 Nonsynonymous SNV L681F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 323224 chr3 98526982 98526982 A G rs201629117 DCBLD2 Nonsynonymous SNV V538A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 323225 chr3 9934912 9934912 G A rs61746084 JAGN1 Nonsynonymous SNV A81T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.28 323226 chr17 73258670 73258670 C T MRPS7 Nonsynonymous SNV T59I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 323227 chr4 100131582 100131582 T C rs28720153 ADH6 Nonsynonymous SNV I114V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 323228 chr17 72959913 72959913 G A rs770822768 HID1 Synonymous SNV R103R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.98 323229 chr4 100571307 100571307 G C rs138882703 C4orf54 Nonsynonymous SNV A1500G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 323230 chr4 110662159 110662159 C G rs7437875 CFI Nonsynonymous SNV E541Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 29.1 323231 chr4 154839 154839 A C rs202125181 ZNF718 Nonsynonymous SNV K122Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.433 323232 chr4 113508726 113508727 CT - rs773704228 ZGRF1 R1104Sfs*2 0.001 0 0 0 1 0 0 0 0 0 0 0 323233 chr4 114269433 114269433 A G rs72544141 ANK2 Nonsynonymous SNV E634G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 323234 chr4 156136124 156136124 C T rs376048056 NPY2R Nonsynonymous SNV R345W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 323235 chr17 73812947 73812947 C T rs1043265632 UNK Nonsynonymous SNV S353L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 323236 chr17 74014286 74014286 C T rs150157240 EVPL Nonsynonymous SNV R498H 0 0 0 1 0 0 0.003 0 0 0 0 0 15.03 323237 chr4 11400746 11400746 T C rs34719057 HS3ST1 Nonsynonymous SNV K295R 0 0 0.007 0 0 0 0 2 0 0 1 0 14.57 323238 chr4 11400982 11400982 G A rs79731538 HS3ST1 Synonymous SNV D216D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.012 323239 chr4 120423762 120423762 T G rs144204269 PDE5A Synonymous SNV R794R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.135 323240 chr17 76046141 76046141 G A rs750724099 TNRC6C Nonsynonymous SNV R333Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 323241 chr4 122254025 122254025 C A rs116679707 QRFPR Nonsynonymous SNV G250C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.167 323242 chr4 125591752 125591752 C T ANKRD50 Nonsynonymous SNV D715N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 323243 chr17 76198672 76198672 G A rs529279629 AFMID Nonsynonymous SNV E83K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.079 323244 chr4 142143591 142143592 AA - ZNF330 R23Sfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 323245 chr4 151749499 151749499 C T rs775567440 LRBA Synonymous SNV P1668P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.3 323246 chr4 140641315 140641315 G C rs370440205 MAML3 Nonsynonymous SNV P860R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 323247 chr4 141055533 141055533 C T rs73857941 LOC101927516 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 323248 chr17 76897888 76897888 G A rs765649700 CEP295NL Nonsynonymous SNV S8L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 323249 chr4 141313416 141313416 - AAG rs373992784 CLGN L536_E537insL 0 0 0.003 0 0 0 0 1 0 0 0 0 323250 chr4 186425731 186425731 G A PDLIM3 Nonsynonymous SNV P101L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 323251 chr4 142155072 142155072 T A rs34631212 ZNF330 Nonsynonymous SNV L238M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 16.53 323252 chr4 146601588 146601588 A G rs17020530 C4orf51 Nonsynonymous SNV Q78R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.49 323253 chr4 15004959 15004959 C A rs113663089 CPEB2 Nonsynonymous SNV P221Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.364 323254 chr4 15005838 15005838 C T rs191240869 CPEB2 Nonsynonymous SNV P514L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 323255 chr4 15063731 15063731 G A rs7654960 CPEB2 Synonymous SNV L873L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 323256 chr4 159526222 159526222 C G rs778662198 RXFP1 Stop gain S99X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 323257 chr4 164048136 164048136 - CATA NAF1 Frameshift insertion Q389Yfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 323258 chr4 155163829 155163829 G C rs147944468 DCHS2 Nonsynonymous SNV A2346G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 323259 chr4 2307217 2307217 G A rs559207225 ZFYVE28 Nonsynonymous SNV R254W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 323260 chr4 24810348 24810348 G - CCDC149 P418Qfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 323261 chr4 2692479 2692479 C T rs146516940 FAM193A Nonsynonymous SNV P571L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 323262 chr4 159789501 159789501 G A rs73858598 FNIP2 Synonymous SNV T217T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.631 323263 chr4 162307059 162307059 C T rs111918853 FSTL5 Nonsynonymous SNV R785Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.607 323264 chr4 16258259 16258259 G A rs16893203 TAPT1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.691 323265 chr4 174235180 174235180 G T rs61741158 GALNT7 Synonymous SNV S487S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.127 323266 chr4 175416708 175416708 G A rs17060544 HPGD Synonymous SNV R95R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.22 323267 chr4 17661599 17661599 C T rs9685280 FAM184B Synonymous SNV K602K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.67 323268 chr17 48614283 48614283 C T EPN3 Synonymous SNV N122N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 323269 chr17 8049440 8049440 G A rs748187060 PER1 Nonsynonymous SNV A685V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 323270 chr17 55184255 55184255 G A rs756059640 AKAP1 Nonsynonymous SNV R477Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.51 323271 chr4 183673011 183673011 G A rs61744080 TENM3 Nonsynonymous SNV V1230I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.59 323272 chr4 183715019 183715019 C T rs61753392 TENM3 Synonymous SNV D2398D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.58 323273 chr4 183721094 183721094 T C rs61742821 TENM3 Synonymous SNV L2564L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.17 323274 chr4 184426360 184426360 G A rs138103277 ING2 Synonymous SNV Q4Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 323275 chr4 185310053 185310053 G A rs59219184 IRF2 Synonymous SNV S303S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.31 323276 chr4 2306216 2306216 T G rs145252417 ZFYVE28 Synonymous SNV S587S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.007 323277 chr4 25398295 25398295 G A rs142445351 ANAPC4 Synonymous SNV E357E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.71 323278 chr4 26750105 26750105 A G rs76297326 TBC1D19 Synonymous SNV L399L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.518 323279 chr4 6234629 6234629 C T LINC02495 0 0 0.003 0 0 0 0 1 0 0 0 0 2.913 323280 chr5 21755707 21755707 T C CDH12 Nonsynonymous SNV I402M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 323281 chr5 32089487 32089487 G A rs374757036 PDZD2 Nonsynonymous SNV S1978N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 323282 chr4 106196404 106196404 T - TET2 P1580Qfs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 323283 chr17 649613 649613 G A rs371409883 GEMIN4 Nonsynonymous SNV P557L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 323284 chr5 37016179 37016179 G C rs756897581 NIPBL Synonymous SNV L1561L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.336 323285 chr18 334818 334818 G A rs773546651 COLEC12 Synonymous SNV P580P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.96 323286 chr4 727547 727547 C T rs139474186 PCGF3 Synonymous SNV D26D 0 0 0.003 0 0 0 0 1 0 0 0 0 13 323287 chr4 73188781 73188781 C T ADAMTS3 Nonsynonymous SNV V299M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 323288 chr5 45262610 45262610 G T HCN1 Nonsynonymous SNV P696T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 323289 chr4 4285389 4285389 - T LYAR Frameshift insertion N27Kfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 323290 chr4 43032508 43032508 C A rs376573747 GRXCR1 Nonsynonymous SNV T275K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 323291 chr5 38942441 38942441 T C RICTOR Nonsynonymous SNV K1375E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 323292 chr4 4304763 4304763 C T rs74944032 ZBTB49 Synonymous SNV C400C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.69 323293 chr4 4322700 4322700 A G rs116231896 ZBTB49 Nonsynonymous SNV Y652C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.3 323294 chr4 47907320 47907320 A T rs144169475 NFXL1 Nonsynonymous SNV N150K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 323295 chr18 43510795 43510795 G A rs142253896 EPG5 Synonymous SNV D753D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.245 323296 chr4 55976709 55976709 C G rs113121239 KDR Nonsynonymous SNV E372D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.25 323297 chr4 62936601 62936601 C T rs73825603 ADGRL3 Nonsynonymous SNV P1435L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 323298 chr4 6302899 6302899 G A rs143672793 WFS1 Synonymous SNV L459L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.171 323299 chr5 72364545 72364545 A G FCHO2 Synonymous SNV A473A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.1 323300 chr4 70513163 70513163 G T rs145089093 UGT2A1 Nonsynonymous SNV P67Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 323301 chr4 71024148 71024148 C G PRR27 Nonsynonymous SNV P60R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 323302 chr4 74303902 74303902 T A rs146576905 AFP Nonsynonymous SNV F50Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 323303 chr4 7435377 7435377 C T rs6844846 PSAPL1 Synonymous SNV L410L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.66 323304 chr4 75147160 75147160 C T rs144825691 MTHFD2L Nonsynonymous SNV T275M 0 0 0.003 0 0 0 0 1 0 0 0 0 34 323305 chr4 75938311 75938311 C T rs149486414 PARM1 Synonymous SNV T240T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 323306 chr4 76794450 76794450 - C rs139979412 PPEF2 Frameshift insertion W446Vfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 323307 chr4 76943554 76943554 G T rs139813823 CXCL10 Synonymous SNV A81A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.553 323308 chr4 77184997 77184997 G A rs116093445 FAM47E, FAM47E-STBD1 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 323309 chr4 77977235 77977235 T C rs4252901 CCNI Synonymous SNV V99V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.632 323310 chr4 7802257 7802257 C T rs146426247 AFAP1 Nonsynonymous SNV R393H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 323311 chr4 78079736 78079736 T C rs34727878 CCNG2 Synonymous SNV L17L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.091 323312 chr4 78082005 78082005 T C rs35524230 CCNG2 Synonymous SNV S136S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.551 323313 chr5 127624828 127624828 G A rs200158069 FBN2 Nonsynonymous SNV R2210C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 323314 chr5 127627306 127627306 A - FBN2 F2069Lfs*180 0 0 0.003 0 0 0 0 1 0 0 0 0 323315 chr4 79494374 79494374 G A rs5951 ANXA3 Nonsynonymous SNV S19N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 323316 chr4 81283923 81283923 C T rs114876252 CFAP299 Nonsynonymous SNV R43C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 323317 chr4 8214511 8214511 C T rs139277479 SH3TC1 Nonsynonymous SNV R35C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 323318 chr4 8229123 8229123 C A rs148384602 SH3TC1 Synonymous SNV R492R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 323319 chr4 8451546 8451546 C T rs144372818 TRMT44 Synonymous SNV S54S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 323320 chr4 85569756 85569756 C G rs34695122 CDS1 Nonsynonymous SNV P435A 0 0 0.003 0 0 0 0 1 0 0 0 0 11 323321 chr4 89385126 89385126 G A rs17014143 HERC5 Nonsynonymous SNV A301T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.8 323322 chr5 111643145 111643145 G A rs564812157 EPB41L4A Nonsynonymous SNV H48Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 323323 chr19 1043747 1043747 C T rs149023827 ABCA7 Synonymous SNV L318L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.454 323324 chr17 8017826 8017826 G A rs201135844 ALOXE3 Nonsynonymous SNV S218L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 323325 chr4 99830840 99830840 G A rs17028248 EIF4E Stop gain R31X 0 0 0.003 0 0 0 0 1 0 0 0 0 2.15 323326 chr4 99997931 99997931 A G rs28730623 ADH5 Nonsynonymous SNV L163S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 323327 chr5 102433349 102433349 T C rs138420837 GIN1 Nonsynonymous SNV N112S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 323328 chr5 10638219 10638219 C A rs142868191 ANKRD33B Synonymous SNV T192T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 323329 chr5 108294949 108294949 T C rs34320303 FER Synonymous SNV T150T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.173 323330 chr19 11034002 11034002 A - YIPF2 S267Pfs*45 0 0 0 1 0 0 0.003 0 0 0 0 0 323331 chr5 110075067 110075067 A G rs892374338 SLC25A46 Nonsynonymous SNV S83G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.577 323332 chr5 140536181 140536181 A G PCDHB17P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 323333 chr19 11312671 11312671 C T rs115035890 DOCK6 Nonsynonymous SNV R1861H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 32 323334 chr5 140772433 140772433 C T rs1000509941 PCDHGA8 Nonsynonymous SNV A18V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.549 323335 chr19 12460586 12460586 A T rs532769980 ZNF442 Nonsynonymous SNV C536S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 323336 chr5 118464913 118464913 A G rs113893593 DMXL1 Synonymous SNV P370P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.336 323337 chr5 118506263 118506263 A G rs80082794 DMXL1 Nonsynonymous SNV Q1926R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.533 323338 chr5 118506957 118506957 T G rs150342013 DMXL1 Synonymous SNV L2157L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.619 323339 chr5 118525524 118525524 G A rs17144964 DMXL1 Synonymous SNV A2419A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 323340 chr18 13095621 13095621 C T CEP192 Nonsynonymous SNV A2125V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.641 323341 chr5 141694697 141694697 C T rs547174965 SPRY4 Nonsynonymous SNV V16I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 323342 chr18 21500903 21500903 G T rs45516998 LAMA3 Nonsynonymous SNV R978L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.77 323343 chr18 20573773 20573773 T C rs201620586 RBBP8 Synonymous SNV C634C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.282 323344 chr5 139947246 139947246 C T rs767304370 SLC35A4 Synonymous SNV P164P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.041 323345 chr5 148431719 148431719 T G rs146162276 SH3TC2 Nonsynonymous SNV Q46P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.66 323346 chr5 140182683 140182683 C - rs782102274 PCDHA3 R635Vfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 323347 chr18 28918401 28918401 G A DSG1 Synonymous SNV T463T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.3 323348 chr18 29437943 29437943 C A TRAPPC8 Synonymous SNV V916V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 323349 chr5 132160489 132160489 C T rs150122012 SHROOM1 Synonymous SNV A353A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 323350 chr5 133494197 133494197 A T rs367664255 SKP1 Synonymous SNV I135I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.554 323351 chr19 15298720 15298720 G C rs775208731 NOTCH3 Synonymous SNV P526P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.121 323352 chr18 2913148 2913148 C T rs149222205 EMILIN2 Synonymous SNV L970L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.375 323353 chr5 135587409 135587409 C T rs371141920 TRPC7 Nonsynonymous SNV V387M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 323354 chr5 137206489 137206489 A G rs34717730 MYOT Nonsynonymous SNV Q50R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 12.75 323355 chr5 141693874 141693874 C T rs367842050 SPRY4 Nonsynonymous SNV R267H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 323356 chr5 137756455 137756455 C T rs371034627 KDM3B Nonsynonymous SNV S1259L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 323357 chr5 137762927 137762927 G C KDM3B Nonsynonymous SNV D1518H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 323358 chr5 13811889 13811889 C T rs35900306 DNAH5 Nonsynonymous SNV R2425H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 23.9 323359 chr5 145379705 145379705 C T rs371869103 SH3RF2 Nonsynonymous SNV R155W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 323360 chr18 44098178 44098178 G A rs373924055 LOXHD1 Synonymous SNV G10G 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.02 323361 chr5 159820804 159820804 C G ZBED8 Nonsynonymous SNV S565T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 323362 chr18 5428405 5428405 G A rs755696191 EPB41L3 Synonymous SNV R324R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.21 323363 chr5 140615188 140615188 C T rs61742916 PCDHB18P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 323364 chr5 140615194 140615194 G A rs61742911 PCDHB18P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.864 323365 chr5 140683081 140683081 C T rs140903972 SLC25A2 Nonsynonymous SNV A118T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.178 323366 chr18 51750592 51750592 - CGCCGCAGCCGCCGCCGT MBD2 G112_G113insDGGGCG 0.001 0 0 0 1 0 0 0 0 0 0 0 323367 chr5 140739988 140739988 T C rs372376910 PCDHGB2 Nonsynonymous SNV C96R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 323368 chr5 140741185 140741185 G T rs372928108 PCDHGB2 Nonsynonymous SNV D495Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 323369 chr18 56887502 56887502 G A rs760680754 GRP Nonsynonymous SNV R2H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 323370 chr5 14508484 14508484 C T rs61740945 TRIO Nonsynonymous SNV R3083C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 323371 chr5 176301487 176301487 G T UNC5A Nonsynonymous SNV R433L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.83 323372 chr5 146939690 146939690 T C rs141172974 JAKMIP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.65 323373 chr5 147209174 147209174 G A rs35006579 SPINK1 Synonymous SNV S25S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.061 323374 chr19 18707780 18707780 C T rs752647111 CRLF1 Synonymous SNV S259S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.8 323375 chr5 149313563 149313563 T C rs10057110 PDE6A Nonsynonymous SNV N216S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.56 323376 chr18 625010 625010 G A CLUL1 Nonsynonymous SNV S134N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.555 323377 chr19 287701 287701 G A PLPP2 Synonymous SNV R85R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.088 323378 chr5 149678084 149678084 G A rs147408633 ARSI Synonymous SNV L135L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.911 323379 chr5 149681846 149681846 C A rs77196282 ARSI Nonsynonymous SNV G31W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.5 323380 chr19 20829103 20829103 T C rs146304113 ZNF626 Nonsynonymous SNV S38G 0 0 0 1 0 0 0.003 0 0 0 0 0 2.94 323381 chr5 149755845 149755845 A G rs34796297 TCOF1 Synonymous SNV E621E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.667 323382 chr5 149772344 149772344 G A rs148626720 TCOF1 Synonymous SNV A1120A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.97 323383 chr5 149776113 149776113 G A rs114169102 TCOF1 Synonymous SNV S1273S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.96 323384 chr5 31534421 31534421 C T C5orf22 Nonsynonymous SNV P42S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 323385 chr5 150563149 150563149 G A rs10064866 CCDC69 Nonsynonymous SNV T247M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 323386 chr5 150911500 150911500 C T FAT2 Synonymous SNV P3153P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 323387 chr5 154202059 154202059 A T rs374418283 FAXDC2 Synonymous SNV S217S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 323388 chr5 154278834 154278834 C T rs116579476 GEMIN5 Synonymous SNV P1016P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.52 323389 chr5 154396295 154396295 T C rs148448511 KIF4B Nonsynonymous SNV L959P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.35 323390 chr19 31770175 31770175 G A rs770463906 TSHZ3 Nonsynonymous SNV T175M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 323391 chr5 159822407 159822407 C T rs147791859 ZBED8 Nonsynonymous SNV V31M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 323392 chr19 36335019 36335019 C T rs745809656 NPHS1 Nonsynonymous SNV R733Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 323393 chr5 16673959 16673959 G A rs3892700 MYO10 Synonymous SNV Y1668Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.367 323394 chr5 16701213 16701213 C T rs154260 MYO10 Synonymous SNV E1097E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 323395 chr5 168114108 168114108 G C rs10072243 SLIT3 Nonsynonymous SNV P1071A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 323396 chr5 169020482 169020482 G T rs147518536 SPDL1 Nonsynonymous SNV R154L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 323397 chr5 172384206 172384206 G A rs6861195 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 2.707 323398 chr5 172518112 172518112 A G rs34710345 CREBRF Synonymous SNV S310S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.136 323399 chr5 17275364 17275364 T C rs73756114 BASP1 Synonymous SNV N13N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.311 323400 chr5 176301402 176301402 G A UNC5A Nonsynonymous SNV G405S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 323401 chr5 176930280 176930280 G A rs116263149 DOK3 Synonymous SNV G151G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.315 323402 chr5 177031426 177031426 G T rs114036939 B4GALT7 Synonymous SNV V99V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.867 323403 chr19 38852907 38852907 G C rs778867060 CATSPERG Nonsynonymous SNV D678H 0 0.003 0 0 0 1 0 0 0 0 0 0 19.29 323404 chr5 178359643 178359643 C T rs77723700 ZFP2 Synonymous SNV C443C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 323405 chr5 178408783 178408783 C T rs61731185 GRM6 Nonsynonymous SNV V837I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.17 323406 chr5 179025814 179025814 C T rs73336111 RUFY1 Synonymous SNV L477L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.49 323407 chr6 22290489 22290489 C T rs763362568 PRL Nonsynonymous SNV A136T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 323408 chr19 3752620 3752620 C T rs372000168 APBA3 Synonymous SNV L427L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.05 323409 chr5 180218709 180218709 G A rs116477417 MGAT1 Synonymous SNV T421T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.702 323410 chr19 14162997 14162997 C T rs151126617 IL27RA Synonymous SNV P602P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 323411 chr6 35763518 35763518 C T CLPS Nonsynonymous SNV C66Y 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 323412 chr6 35960392 35960392 C T SLC26A8 Nonsynonymous SNV M229I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.03 323413 chr5 180475195 180475195 T C rs79756245 BTNL9 Synonymous SNV S126S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.007 323414 chr6 36270184 36270184 G A rs548606984 PNPLA1 Nonsynonymous SNV S355N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.033 323415 chr5 180486811 180486811 C T rs76350168 BTNL9 Synonymous SNV D519D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.825 323416 chr5 180582871 180582871 G A rs139986742 OR2V2 Nonsynonymous SNV R310K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.034 323417 chr5 180651423 180651446 GAGGAGGACCTGAGGGGGGAGGAT - rs766909473 TRIM41 L145_D152del 0 0 0.003 0 0 0 0 1 0 0 0 0 323418 chr5 195131 195131 G A rs751685605 LRRC14B Nonsynonymous SNV R403H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 323419 chr5 32098522 32098522 G A rs146240060 PDZD2 Nonsynonymous SNV R2667Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 323420 chr19 41889498 41889498 C T rs762589112 TMEM91 Synonymous SNV Y131Y 0 0.003 0 0 0 1 0 0 0 0 0 0 3.693 323421 chr5 33998773 33998773 G A rs9282594 AMACR Nonsynonymous SNV T184I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.6 323422 chr5 35032881 35032881 C T rs78750779 AGXT2 Nonsynonymous SNV R242Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 35 323423 chr19 40730406 40730406 C T rs147068728 CNTD2 Nonsynonymous SNV V168M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 323424 chr5 35774079 35774079 G T rs139687000 SPEF2 Nonsynonymous SNV R1345M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.409 323425 chr5 36036066 36036066 C T rs61729693 UGT3A2 Nonsynonymous SNV A402T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 323426 chr5 37815849 37815849 T C rs112417561 GDNF Synonymous SNV R180R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.163 323427 chr5 41008777 41008777 G A rs34245494 MROH2B Nonsynonymous SNV T1180I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.636 323428 chr6 101315833 101315833 G A ASCC3 Nonsynonymous SNV S14L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 323429 chr6 36106754 36106754 C T rs773433371 MAPK13 Nonsynonymous SNV P314S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 323430 chr5 41382536 41382536 C T rs16871312 PLCXD3 Synonymous SNV V68V 0 0 0.007 0 0 0 0 2 0 0 1 0 9.88 323431 chr19 1632084 1632084 G A rs768705868 TCF3 Nonsynonymous SNV S84L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 323432 chr5 53467621 53467621 C T rs775096404 ARL15 Synonymous SNV S62S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.09 323433 chr6 116833281 116833281 T C rs375330335 CALHM5 Nonsynonymous SNV I141T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 323434 chr19 17305863 17305863 G C rs1034353034 MYO9B Nonsynonymous SNV E1209D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.001 323435 chr6 46656537 46656537 C T rs377243726 TDRD6 Synonymous SNV V224V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.197 323436 chr5 54442522 54442522 T A rs34132993 CDC20B Nonsynonymous SNV T97S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 323437 chr5 55212561 55212561 G A rs115463620 IL31RA Synonymous SNV V617V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 323438 chr5 55264142 55264142 T C rs2228045 IL6ST Synonymous SNV E151E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.878 323439 chr5 55807521 55807521 G A rs150434861 C5orf67 0 0 0.003 0 0 0 0 1 0 0 0 0 6.412 323440 chr5 56177980 56177982 ACC - rs140733770 MAP3K1 T985del 0 0 0.003 0 0 0 0 1 0 0 0 0 323441 chr6 42993866 42993866 C T rs779762073 RRP36 Nonsynonymous SNV A146V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.49 323442 chr5 56231541 56231541 A G rs16886514 MIER3 Synonymous SNV V163V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.395 323443 chr5 6377364 6377364 - G rs148114802 MED10 0 0 0.003 0 0 0 0 1 0 0 0 0 323444 chr19 18542509 18542509 C T rs1024788350 SSBP4 Nonsynonymous SNV P141L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 323445 chr5 65321750 65321750 C T rs116351822 ERBIN Nonsynonymous SNV T322I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.26 323446 chr5 65350459 65350459 T C rs113520078 ERBIN Synonymous SNV L1105L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.786 323447 chr5 66459519 66459519 A C rs55831870 MAST4 Synonymous SNV P1243P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 323448 chr5 68687772 68687772 A C rs144862787 RAD17 Nonsynonymous SNV Q385P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.7 323449 chr19 4512049 4512049 G A rs113556228 PLIN4 Synonymous SNV A641A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.658 323450 chr19 4512058 4512058 G C rs529275985 PLIN4 Synonymous SNV V638V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.405 323451 chr19 4512068 4512068 T C rs200417303 PLIN4 Nonsynonymous SNV Y635C 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 323452 chr19 4512085 4512085 A G rs757143573 PLIN4 Synonymous SNV G629G 0 0.003 0 0 0 1 0 0 0 0 0 0 2.37 323453 chr6 45333028 45333028 G A rs146820226 SUPT3H Nonsynonymous SNV T4M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 323454 chr19 4512112 4512112 C T rs756271817 PLIN4 Nonsynonymous SNV M620I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 323455 chr5 71495344 71495344 A C rs61734260 MAP1B Synonymous SNV A1928A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 323456 chr5 71756427 71756427 G A rs911164073 ZNF366 Synonymous SNV H299H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.339 323457 chr5 74892777 74892777 C T rs5744714 POLK Synonymous SNV N687N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.035 323458 chr5 74998475 74998475 A G rs79645384 POC5 Synonymous SNV L131L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.718 323459 chr6 52761668 52761668 C G rs149910347 GSTA3 Nonsynonymous SNV S152T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.3 323460 chr5 76342240 76342240 C T rs139798328 AGGF1 Synonymous SNV F313F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.74 323461 chr6 52905984 52905984 G A rs373305658 CILK1 Synonymous SNV S17S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 323462 chr5 7802414 7802414 C T rs35218680 ADCY2 Synonymous SNV D904D 0 0 0.007 0 0 0 0 2 0 0 0 0 14.34 323463 chr6 74440152 74440152 G A rs111900767 CD109 Nonsynonymous SNV R121H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.79 323464 chr5 7873500 7873500 C T rs138612190 MTRR Synonymous SNV T48T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.83 323465 chr19 46511529 46511529 G A rs200622643 CCDC61 Nonsynonymous SNV R174Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.4 323466 chr19 47844252 47844252 C T rs774228055 C5AR2 Nonsynonymous SNV R66W 0.002 0.003 0 0 2 1 0 0 0 0 0 0 23.4 323467 chr6 56484410 56484410 T C rs772559320 DST Synonymous SNV E1474E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 323468 chr6 153075423 153075423 G A rs201856361 VIP Nonsynonymous SNV R77K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 323469 chr6 153296563 153296563 C T rs745950636 FBXO5 Synonymous SNV P53P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 323470 chr5 89923101 89923101 G A rs41303344 ADGRV1 Nonsynonymous SNV R249K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.07 323471 chr5 90078956 90078956 G A rs757736882 ADGRV1 Nonsynonymous SNV G4416E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 323472 chr19 48965535 48965535 T A rs776127890 KCNJ14 Nonsynonymous SNV M185K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 323473 chr6 84799138 84799138 G C rs141993133 MRAP2 Nonsynonymous SNV E100Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 323474 chr6 160238156 160238156 C A PNLDC1 Nonsynonymous SNV A377E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 323475 chr6 109757328 109757328 T C PPIL6 Synonymous SNV Q70Q 0 0 0 1 0 0 0.003 0 0 0 0 0 2.265 323476 chr6 111694080 111694080 A G rs764571442 REV3L Synonymous SNV D1826D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.499 323477 chr6 108499301 108499301 C T rs143132592 NR2E1 Synonymous SNV Y203Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.632 323478 chr6 109748308 109748308 A G rs141643047 PPIL6 Synonymous SNV L126L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.23 323479 chr6 109752384 109752384 G A rs113598036 PPIL6 Synonymous SNV S100S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.284 323480 chr6 110300310 110300310 G T rs202155800 GPR6 Nonsynonymous SNV A14S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.958 323481 chr6 110763547 110763547 G A rs35343055 SLC22A16 Synonymous SNV T361T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.03 323482 chr19 50321729 50321729 T G rs376462101 MED25 Nonsynonymous SNV I44S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 323483 chr19 36272066 36272066 C T rs576707239 ARHGAP33 Nonsynonymous SNV R197C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 323484 chr6 111913058 111913058 G C rs73764462 TRAF3IP2 Nonsynonymous SNV R78G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.7 323485 chr6 112430662 112430662 A G rs144482486 LAMA4 Nonsynonymous SNV I1817T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24 323486 chr19 50519363 50519363 G A rs145111453 VRK3 Synonymous SNV C19C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.674 323487 chr19 38692538 38692538 C T rs757545534 SIPA1L3 Nonsynonymous SNV P1674L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 323488 chr6 116938461 116938461 G T rs79327004 RSPH4A Synonymous SNV S225S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.86 323489 chr6 109772868 109772868 C T rs201744766 MICAL1 Nonsynonymous SNV D290N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 323490 chr6 109774465 109774465 C G MICAL1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 323491 chr6 117114049 117114049 C T rs149375105 GPRC6A Synonymous SNV T608T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.258 323492 chr6 117121904 117121904 A T rs143913245 GPRC6A Nonsynonymous SNV F289Y 0 0 0.003 0 0 0 0 1 0 0 0 0 28 323493 chr6 24178663 24178663 G C rs567036123 DCDC2 Synonymous SNV G407G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.117 323494 chr6 117589362 117589362 C A rs61746898 VGLL2 Synonymous SNV S33S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 13.91 323495 chr6 11770262 11770262 A G rs184497023 ADTRP 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 323496 chr19 375860 375860 G A rs758840282 THEG Synonymous SNV Y37Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.197 323497 chr6 125231852 125231852 G A rs6908150 RNF217-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.373 323498 chr6 129581946 129581946 G C rs142345851 LAMA2 Synonymous SNV G729G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.79 323499 chr6 27806018 27806018 G A rs761731799 HIST1H2AK Synonymous SNV L34L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 323500 chr6 139694500 139694500 G A rs530008417 CITED2 Synonymous SNV G194G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign 2.558 323501 chr6 131520642 131520642 G C rs34221901 AKAP7 Nonsynonymous SNV G211R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 323502 chr6 13185107 13185107 A C rs77998548 PHACTR1 Synonymous SNV L155L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 323503 chr6 132271197 132271197 C T rs142873474 CCN2 Nonsynonymous SNV M215I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.9 323504 chr6 132694023 132694023 C T rs149106266 MOXD1 Synonymous SNV E175E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 323505 chr6 133044887 133044887 C T rs568929875 VNN3 Nonsynonymous SNV E163K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 323506 chr6 133045914 133045914 T G rs115546338 VNN3 Nonsynonymous SNV D53A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.46 323507 chr6 13325348 13325348 T C rs149256748 TBC1D7, TBC1D7-LOC100130357 Synonymous SNV A57A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.228 323508 chr6 13365146 13365146 G A rs61734018 GFOD1 Synonymous SNV A231A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 323509 chr6 134436499 134436499 T C rs73556747 HMGA1P7 0 0 0.003 0 0 0 0 1 0 0 0 0 0.805 323510 chr6 13807194 13807194 G A rs61659142 MCUR1 Synonymous SNV F166F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.26 323511 chr6 138202378 138202378 C T rs5029956 TNFAIP3 Synonymous SNV P765P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.5 323512 chr6 138583868 138583868 C T rs34628698 ARFGEF3 Synonymous SNV I416I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.67 323513 chr6 138584731 138584731 C T rs61741354 ARFGEF3 Nonsynonymous SNV A704V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.1 323514 chr6 132190545 132190545 T C rs779657137 ENPP1 Synonymous SNV L441L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.735 323515 chr19 44086108 44086108 C T rs578218724 PINLYP Synonymous SNV T102T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.819 323516 chr6 151208978 151208978 T C rs763170805 MTHFD1L Nonsynonymous SNV V215A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.741 323517 chr19 40711089 40711089 A C MAP3K10 Nonsynonymous SNV E358D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 323518 chr6 139135706 139135706 G A rs146769748 ECT2L Nonsynonymous SNV A49T 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 0.294 323519 chr6 13977872 13977872 G A rs114884830 RNF182 Synonymous SNV T174T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 323520 chr6 142396878 142396878 C A rs113235463 NMBR Synonymous SNV V212V 0 0 0.003 1 0 0 0.003 1 0 0 0 0 13.73 323521 chr6 143092063 143092063 A G rs11963915 HIVEP2 Synonymous SNV Y1271Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.001 323522 chr6 143092432 143092432 C G rs34360302 HIVEP2 Synonymous SNV S1148S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.199 323523 chr19 53619178 53619178 C T ZNF415 0 0 0 1 0 0 0.003 0 0 0 0 0 2.232 323524 chr19 54080034 54080036 AGA - rs574088222 ZNF331 R75del 0 0 0 1 0 0 0.003 0 0 0 0 0 323525 chr6 147830303 147830303 C T rs142462155 SAMD5 Nonsynonymous SNV P80L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 323526 chr19 54313162 54313162 G A rs775095635 NLRP12 Nonsynonymous SNV S584L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.55 323527 chr6 150387059 150387059 C A rs34672740 ULBP3 Stop gain E110X 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 323528 chr6 158900959 158900959 C G rs141200689 TULP4 Synonymous SNV P401P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 323529 chr6 151670035 151670035 T C rs62620007 AKAP12 Nonsynonymous SNV I65T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 19.05 323530 chr6 151686944 151686944 G T rs35497457 ZBTB2 Synonymous SNV T419T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.559 323531 chr6 41658508 41658508 C T rs138679180 TFEB Nonsynonymous SNV A135T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.43 323532 chr6 152847299 152847299 T C rs551171550 SYNE1 Synonymous SNV P47P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.053 323533 chr6 158487526 158487526 A G rs61601143 SYNJ2 Nonsynonymous SNV N289D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 323534 chr6 158882723 158882723 C A rs145043798 TULP4 Nonsynonymous SNV R330S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 323535 chr6 159420548 159420548 G A rs61750777 RSPH3 Nonsynonymous SNV A154V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.91 323536 chr6 159420966 159420966 G A rs140715430 RSPH3 Nonsynonymous SNV L15F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.701 323537 chr19 56163860 56163860 G A rs139347607 CCDC106 Synonymous SNV K162K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.45 323538 chr19 56249638 56249638 C T NLRP9 Nonsynonymous SNV E35K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.192 323539 chr6 163735999 163735999 G A rs372089123 PACRG Nonsynonymous SNV E252K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 323540 chr19 56718564 56718564 C T rs545734392 ZSCAN5C Nonsynonymous SNV P174L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.384 323541 chr6 167369655 167369655 G A rs11557915 RNASET2 Synonymous SNV L6L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.968 323542 chr6 168070353 168070353 G A rs141655386 LINC02538 0 0 0.003 0 0 0 0 1 0 0 0 0 6.075 323543 chr6 168191768 168191768 C A rs111655903 LINC01558 0 0 0.003 0 0 0 0 1 0 0 0 0 1.372 323544 chr6 168226442 168226442 T A rs142774943 AFDN-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 323545 chr19 57051078 57051078 T C rs770012262 ZFP28 Nonsynonymous SNV M98T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 323546 chr6 169053778 169053778 C T rs73244546 SMOC2 Synonymous SNV P385P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.942 323547 chr6 56382029 56382029 G A rs367584614 DST Synonymous SNV T3485T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.82 323548 chr7 5427838 5427838 G A rs763087040 TNRC18 Synonymous SNV A539A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.646 323549 chr6 22570395 22570395 C T rs190076368 HDGFL1 Synonymous SNV F197F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.692 323550 chr6 24576806 24576806 C T rs9918327 KIAA0319 Synonymous SNV S463S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.35 323551 chr6 26045939 26045939 C T rs9461231 HIST1H3C Synonymous SNV L101L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.528 323552 chr6 26091705 26091705 G A HFE Synonymous SNV E80E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.948 323553 chr6 2693049 2693049 G A rs55842034 MYLK4 Synonymous SNV P68P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.818 323554 chr6 27278181 27278181 G T rs16897529 POM121L2 Nonsynonymous SNV T590K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 323555 chr6 80745051 80745051 A G rs1801351 TTK Nonsynonymous SNV K613R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 323556 chr6 27419334 27419334 C T rs73741730 ZNF184 Synonymous SNV K668K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.49 323557 chr6 27925255 27925255 A T rs55711161 OR2B6 Synonymous SNV P79P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 323558 chr19 6586380 6586380 C G rs777879588 CD70 Nonsynonymous SNV G78A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.263 323559 chr6 28269973 28269973 G A PGBD1 Nonsynonymous SNV C781Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 323560 chr7 6554141 6554141 C T rs370600166 GRID2IP Nonsynonymous SNV V430I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 323561 chr7 22270527 22270527 C T rs565275827 RAPGEF5 Nonsynonymous SNV D270N 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 323562 chr6 28402717 28402717 C G rs73740617 ZSCAN23 Nonsynonymous SNV R232P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 323563 chr7 100174731 100174731 C T rs769820187 LRCH4 Nonsynonymous SNV V448M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.169 323564 chr19 50880880 50880880 G A rs375078500 NR1H2 Synonymous SNV T6T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 323565 chr7 20824846 20824846 A C rs765110354 SP8 Nonsynonymous SNV V197G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 323566 chr19 50881911 50881911 G C rs374682142 NR1H2 Nonsynonymous SNV G105A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.001 323567 chr19 52131158 52131158 T C SIGLEC5 Nonsynonymous SNV E309G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.103 323568 chr6 33554460 33554460 G A rs115004013 GGNBP1, LINC00336 0 0 0.007 0 0 0 0 2 0 0 0 0 8.302 323569 chr6 34059779 34059779 G A rs748467016 GRM4 Nonsynonymous SNV A137V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 323570 chr19 52660034 52660034 G A rs370106180 ZNF836 Nonsynonymous SNV P301L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 323571 chr6 35258446 35258446 G A rs760448377 ZNF76 Nonsynonymous SNV R193H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 323572 chr6 35945043 35945043 G A rs76159564 SLC26A8 Synonymous SNV L266L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 323573 chr6 36339176 36339176 C T rs34306145 ETV7 Nonsynonymous SNV G48S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.23 323574 chr6 36341251 36341251 G A rs9470262 ETV7 Nonsynonymous SNV H83Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.256 323575 chr6 3751535 3751535 T C rs79825275 PXDC1 Synonymous SNV E77E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.706 323576 chr6 4099378 4099378 G T rs114182167 C6orf201 Nonsynonymous SNV C77F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 323577 chr6 41243935 41243935 A G rs2234244 TREM1 Nonsynonymous SNV L147P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.987 323578 chr6 41766441 41766441 C T rs148554454 USP49 Nonsynonymous SNV G633R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 323579 chr6 41895193 41895193 C T rs36124188 BYSL Nonsynonymous SNV A117V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.11 323580 chr6 42130904 42130904 G T rs114531372 LOC114841037 Nonsynonymous SNV G101C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 323581 chr19 9066201 9066201 A C MUC16 Nonsynonymous SNV M7082R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.062 323582 chr6 42858238 42858238 G T rs201818343 C6orf226 Nonsynonymous SNV H97N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 323583 chr6 42930877 42930877 G A rs147291064 CNPY3-GNMT, GNMT Synonymous SNV L112L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.948 323584 chr6 42932080 42932080 G A rs115180949 PEX6 Nonsynonymous SNV A979V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 323585 chr7 100806374 100806374 C A VGF Nonsynonymous SNV R584L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 323586 chr6 42936070 42936070 G A rs115960224 PEX6 Nonsynonymous SNV A549V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.2 323587 chr6 43139562 43139562 G A rs537704673 SRF Synonymous SNV L56L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.186 323588 chr6 43167055 43167055 C T rs76034476 CUL9 Synonymous SNV H1034H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 323589 chr6 43305826 43305826 C G rs77300932 ZNF318 Nonsynonymous SNV E1970D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.31 323590 chr6 43422536 43422536 G A rs184094141 DLK2 Nonsynonymous SNV L10F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 323591 chr7 107236332 107236332 C T rs145143247 BCAP29, DUS4L-BCAP29 Nonsynonymous SNV T122M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 323592 chr19 932639 932639 G A rs373775705 ARID3A Nonsynonymous SNV R197Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 323593 chr6 43581724 43581724 A C rs138752565 POLH Nonsynonymous SNV Q400H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.532 323594 chr6 43646255 43646255 G A rs149880858 MRPS18A Synonymous SNV D84D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 323595 chr6 44200655 44200655 G A rs45458701 SLC29A1 Nonsynonymous SNV E433K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.993 323596 chr19 9965482 9965482 C T rs756244167 OLFM2 Nonsynonymous SNV G171R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.12 323597 chr7 44924444 44924444 G A PURB Synonymous SNV S168S 0.001 0 0 0 1 0 0 0 0 0 0 0 11 323598 chr6 47682500 47682500 C T rs12110938 ADGRF4 Nonsynonymous SNV R507C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 323599 chr7 122759267 122759267 A G rs756327488 SLC13A1 Synonymous SNV N460N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.231 323600 chr6 51491842 51491842 C T rs2661487 PKHD1 Nonsynonymous SNV R3913H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.85 323601 chr6 51929841 51929841 T A rs76012218 PKHD1 Synonymous SNV P296P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.714 323602 chr6 52319056 52319056 G A rs115205076 EFHC1 Nonsynonymous SNV R296H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 323603 chr6 52960325 52960325 T C rs138182216 FBXO9 Synonymous SNV Y366Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.753 323604 chr7 47947765 47947765 A G rs781709767 PKD1L1 Synonymous SNV I437I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.521 323605 chr6 53989506 53989506 G T rs114749085 MLIP Nonsynonymous SNV G152V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 323606 chr6 54002403 54002403 A G rs116358487 MLIP Synonymous SNV K501K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.212 323607 chr6 56917907 56917907 C T rs61748913 KIAA1586 Stop gain R177X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 323608 chr7 130418711 130418711 G A rs782515154 KLF14 Synonymous SNV S50S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 323609 chr19 56103987 56103987 C G FIZ1 Nonsynonymous SNV K440N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 323610 chr7 88963313 88963313 C T rs267601619 ZNF804B Synonymous SNV T339T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.976 323611 chr6 64430580 64430582 ACA - rs536788112 EYS V3116del 0 0 0.003 0 0 0 0 1 0 0 0 0 323612 chr7 133876501 133876501 A C LRGUK Nonsynonymous SNV M477L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 323613 chr6 656694 656694 G C rs146735242 HUS1B Nonsynonymous SNV A84G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.036 323614 chr6 66042295 66042295 C T rs370180704 EYS Synonymous SNV T594T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.987 323615 chr6 71234960 71234960 A G rs9455142 FAM135A Nonsynonymous SNV I496V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 323616 chr6 71235217 71235217 A G rs9455143 FAM135A Synonymous SNV K581K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 323617 chr6 71235647 71235647 C T rs16869301 FAM135A Nonsynonymous SNV P725S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 323618 chr6 71245978 71245978 G A rs9446260 FAM135A Synonymous SNV S1098S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 323619 chr6 71248046 71248046 A G rs9455152 FAM135A Synonymous SNV T1161T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.719 323620 chr1 111957637 111957637 G T rs1036114079 OVGP1 Nonsynonymous SNV P496T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 323621 chr1 112991736 112991736 A G rs144829282 CTTNBP2NL Nonsynonymous SNV K91R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.23 323622 chr1 113033653 113033653 G T WNT2B Synonymous SNV T25T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.685 323623 chr7 139655354 139655354 C T rs142313797 TBXAS1 Synonymous SNV H151H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 323624 chr6 75858082 75858082 G A rs779038394 COL12A1 Nonsynonymous SNV R263C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 323625 chr6 75858116 75858116 A G rs34830422 COL12A1 Synonymous SNV Y251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.362 323626 chr7 140158858 140158858 C A MKRN1 Synonymous SNV G240G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 323627 chr7 99017670 99017670 G T ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV Q675K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 323628 chr1 117122282 117122283 GT - rs796625909 IGSF3 D1022Gfs*137 0 0 0 1 0 0 0.003 0 0 0 0 0 323629 chr1 117122285 117122285 G - rs766373978 IGSF3 D1021Efs*14 0 0 0 1 0 0 0.003 0 0 0 0 0 323630 chr6 76022541 76022541 G A rs34807169 FILIP1 Nonsynonymous SNV P1003S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.16 323631 chr6 76357504 76357504 G T rs34486264 SENP6 Synonymous SNV R172R 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 10.25 323632 chr6 76373002 76373002 G A rs16886792 SENP6 Synonymous SNV T247T 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 11.33 323633 chr6 76412531 76412531 C T rs34045941 SENP6 Nonsynonymous SNV A813V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 323634 chr19 58946390 58946390 G A rs759258330 ZNF132 Nonsynonymous SNV P141S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 323635 chr6 8015850 8015850 T C rs74957603 EEF1E1-BLOC1S5 0 0 0.003 0 0 0 0 1 0 0 0 0 1.425 323636 chr6 80513350 80513350 A - rs148021850 LINC01621 0 0 0.003 0 0 0 0 1 0 0 0 0 323637 chr6 83845374 83845374 C T rs377295029 DOP1A Synonymous SNV L960L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 323638 chr7 142563835 142563835 A G rs544189467 EPHB6 Nonsynonymous SNV K116R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 323639 chr6 88054950 88054950 C T rs41273287 C6orf163 Nonsynonymous SNV H45Y 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24 323640 chr6 88058575 88058575 A T rs16879089 C6orf163 Nonsynonymous SNV D65V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.008 323641 chr6 90337302 90337302 A C rs61736690 ANKRD6 Nonsynonymous SNV M399L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.584 323642 chr6 90340645 90340645 G A rs61745976 ANKRD6 Synonymous SNV K638K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.04 323643 chr7 144380066 144380066 A G rs199780530 TPK1 Synonymous SNV L41L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.48 323644 chr7 100159925 100159925 C T rs741784 AGFG2 Synonymous SNV P307P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 323645 chr7 154379718 154379718 A T rs375809494 DPP6 Nonsynonymous SNV E329V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.431 323646 chr1 149858649 149858692 AGCGGGTGGGGGCCGGCGCGCCCGTCTACATGGCGGCGGTCCTC - H2AC20 E42Gfs*55 0 0 0 1 0 0 0.003 0 0 0 0 0 323647 chr1 149858695 149858769 GTACCTGACCGCCGAGATCCTGGAGCTGGCGGGCAACGCGGCTCGGGACAACAAGAAGACGCGCATCATCCCTCG - H2AC20 E57_R82delinsD 0 0 0 1 0 0 0.003 0 0 0 0 0 323648 chr1 150919435 150919435 C T SETDB1 Nonsynonymous SNV S405L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 323649 chr1 151495983 151495983 G A rs758114153 CGN Nonsynonymous SNV R405Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.31 323650 chr7 1626685 1626687 CTC - PSMG3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 323651 chr1 152648787 152648787 G C rs371378636 LCE2C Nonsynonymous SNV G99A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.68 323652 chr7 23530278 23530278 G A rs184690633 RPS2P32 0 0 0.003 0 0 0 0 1 0 0 0 0 6.884 323653 chr1 153905150 153905150 C G rs750379323 DENND4B Nonsynonymous SNV D1254H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 323654 chr7 2472518 2472518 G A rs17132393 CHST12 Nonsynonymous SNV D82N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.054 323655 chr7 102087274 102087274 C A rs750824857 ORAI2 Synonymous SNV R103R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.791 323656 chr7 2625953 2625953 G A rs201181062 IQCE Synonymous SNV K247K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 323657 chr7 102724255 102724255 A G ARMC10 Nonsynonymous SNV N89S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.971 323658 chr7 103113452 103113452 C T RELN Nonsynonymous SNV V3428I 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.016 323659 chr7 100550609 100550609 A G MUC3A Nonsynonymous SNV H397R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.913 323660 chr1 155226519 155226519 C A SCAMP3 Synonymous SNV L255L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.4 323661 chr7 29980393 29980393 G A rs777871607 SCRN1 Nonsynonymous SNV T147M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 323662 chr7 30791859 30791859 C T INMT Synonymous SNV P31P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.007 323663 chr1 155984757 155984757 C T rs780950248 SSR2 Nonsynonymous SNV V120I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 323664 chr7 100959788 100959788 G A IFT22 Nonsynonymous SNV A4V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 323665 chr7 102518795 102518795 A G rs73408209 FBXL13 Synonymous SNV V497V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.317 323666 chr7 123236415 123236415 C G NDUFA5 Nonsynonymous SNV G26R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 323667 chr7 123236471 123236471 A G NDUFA5 Nonsynonymous SNV V7A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.459 323668 chr1 156622209 156622209 G A rs746362652 BCAN Synonymous SNV P489P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.42 323669 chr7 103019777 103019777 T C rs138432667 SLC26A5 Synonymous SNV K498K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.336 323670 chr7 103136218 103136218 G A rs150387973 RELN Synonymous SNV L3107L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12 323671 chr7 105111144 105111144 T C rs113639774 PUS7 Synonymous SNV A469A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.65 323672 chr7 105264636 105264636 C T rs147354371 ATXN7L1 Synonymous SNV P303P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.98 323673 chr7 107398846 107398846 G A rs150458558 CBLL1 Synonymous SNV P232P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.227 323674 chr7 132169766 132169766 C T rs200711077 PLXNA4 Nonsynonymous SNV G460S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.219 323675 chr1 158636110 158636110 C T rs145972324 SPTA1 Nonsynonymous SNV R739H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.59 323676 chr7 120782078 120782078 T A rs138199492 CPED1 Synonymous SNV V646V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 11.11 323677 chr7 48312316 48312316 C T ABCA13 Nonsynonymous SNV A1018V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.08 323678 chr7 127238493 127238493 G A rs769542965 FSCN3 Nonsynonymous SNV R322H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.753 323679 chr1 1663955 1663955 T C rs369634720 SLC35E2A Nonsynonymous SNV Q247R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 0.065 323680 chr7 143044005 143044005 A T rs775611631 CLCN1 Nonsynonymous SNV D789V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.98 323681 chr7 140244491 140244491 C T rs374348351 DENND2A Nonsynonymous SNV V752I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 323682 chr1 1179842 1179842 G A rs770909318 C1QTNF12 Synonymous SNV A71A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.052 323683 chr7 73630393 73630393 C T rs369438020 LAT2 Nonsynonymous SNV R30C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 323684 chr7 141830849 141830849 T C rs200877385 MGAM2 Synonymous SNV N96N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 323685 chr7 142570137 142570137 C T rs369576441 TRPV6 Nonsynonymous SNV R668H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 323686 chr7 149151302 149151302 A G rs200964721 ZNF777 Synonymous SNV A291A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.026 323687 chr7 155150793 155150793 C T rs114826243 BLACE 0.001 0 0 0 1 0 0 0 0 0 0 0 5.317 323688 chr1 146684999 146684999 G A rs782514907 FMO5 Synonymous SNV A121A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.148 323689 chr7 87910302 87910302 A G STEAP4 Synonymous SNV F183F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.77 323690 chr1 150789280 150789280 G A rs759685196 ARNT Nonsynonymous SNV P581S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.089 323691 chr8 1833825 1833825 C T rs745469431 ARHGEF10 Synonymous SNV H340H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.65 323692 chr7 150771881 150771881 C T rs770391759 SLC4A2 Synonymous SNV P991P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 323693 chr7 150773165 150773165 C T rs2303940 SLC4A2 Synonymous SNV A1170A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 323694 chr7 155094553 155094553 T C rs61740679 INSIG1 Synonymous SNV A115A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.853 323695 chr1 184446736 184446736 C T rs563292277 C1orf21 Synonymous SNV G31G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.32 323696 chr7 15601445 15601445 T A rs61751889 AGMO Nonsynonymous SNV D9V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.24 323697 chr1 186083951 186083951 A G rs369293880 HMCN1 Synonymous SNV R3759R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.119 323698 chr8 195235 195235 G A ZNF596 Nonsynonymous SNV V130M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.752 323699 chr7 156743029 156743031 AAG - rs142959370 NOM1 K201del 0 0 0.003 0 0 0 0 1 0 0 0 0 323700 chr1 186135966 186135966 C T HMCN1 Nonsynonymous SNV H5156Y 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 323701 chr7 158455035 158455035 T C rs61740623 NCAPG2 Nonsynonymous SNV N614D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.113 323702 chr7 158677277 158677277 G T rs140596100 WDR60 Nonsynonymous SNV G255V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.11 323703 chr7 158889607 158889607 C T rs115893003 VIPR2 Synonymous SNV S76S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.263 323704 chr7 16649291 16649291 G C rs149044205 ANKMY2 Synonymous SNV L282L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.589 323705 chr1 154378156 154378156 A G rs528464156 IL6R Synonymous SNV G17G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.397 323706 chr8 106814279 106814279 A G rs28374544 ZFPM2 Nonsynonymous SNV S604G 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.001 323707 chr8 106815474 106815474 C T rs16873741 ZFPM2 Nonsynonymous SNV A1002V 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 13.59 323708 chr8 106815679 106815679 A G rs16873744 ZFPM2 Synonymous SNV L1070L 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 0.181 323709 chr7 21894071 21894071 A C rs114257197 DNAH11 Nonsynonymous SNV K3734Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 323710 chr7 2252875 2252875 G A rs61736419 MAD1L1 Synonymous SNV L228L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.46 323711 chr7 2275177 2275177 G A rs11547272 MRM2 Synonymous SNV F107F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.96 323712 chr7 24881958 24881958 G C rs112775983 OSBPL3 Synonymous SNV S380S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.224 323713 chr7 24892147 24892147 A G rs139112654 OSBPL3 Synonymous SNV I347I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.184 323714 chr1 156255685 156255685 C T rs368037092 TMEM79 Nonsynonymous SNV P223L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 323715 chr1 200572996 200572996 T C KIF14 Nonsynonymous SNV T121A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 323716 chr1 156509184 156509184 G A rs761345354 IQGAP3 Nonsynonymous SNV A1013V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 323717 chr7 26578099 26578099 G A rs61730015 KIAA0087, LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 1.731 323718 chr7 27211451 27211451 G A rs73290334 HOXA10-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 323719 chr7 27570844 27570844 A G rs140501381 HIBADH Synonymous SNV Y273Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.644 323720 chr8 123965288 123965288 T C rs371741361 ZHX2 Nonsynonymous SNV I513T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.147 323721 chr7 30793444 30793444 C T rs141846285 INMT Synonymous SNV S83S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 11.54 323722 chr7 30931817 30931817 G A rs140974842 INMT-MINDY4 0 0 0.007 0 0 0 0 2 0 0 1 0 0.965 323723 chr7 3180567 3180567 C - rs765586705 LOC100129603 0 0 0.003 0 0 0 0 1 0 0 0 0 323724 chr7 3180740 3180740 C A rs73673358 LOC100129603 0 0 0.003 0 0 0 0 1 0 0 0 0 1.738 323725 chr7 31904610 31904610 G A rs61734907 PDE1C Synonymous SNV H232H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.98 323726 chr8 130772802 130772802 G C rs769904707 GSDMC Nonsynonymous SNV T237S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.33 323727 chr7 43647938 43647938 G A rs77026432 STK17A Nonsynonymous SNV R168Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25 323728 chr8 134030156 134030156 A T rs965880553 TG Synonymous SNV P2232P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.766 323729 chr1 156215726 156215726 C T PAQR6 Nonsynonymous SNV E78K 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 323730 chr7 44571721 44571721 A G rs114374279 NPC1L1 Synonymous SNV A835A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.931 323731 chr7 44685060 44685060 C T rs116191385 OGDH Synonymous SNV N119N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.41 323732 chr8 37704574 37704574 G A rs375366669 BRF2 Stop gain Q112X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 323733 chr8 37704575 37704575 C T rs368718686 BRF2 Synonymous SNV L111L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 323734 chr8 24358312 24358312 T C ADAM7 Nonsynonymous SNV I671T 0 0 0 1 0 0 0.003 0 0 0 0 0 23 323735 chr7 45142992 45142992 T G rs78557665 TBRG4 Synonymous SNV V262V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.516 323736 chr7 47970807 47970807 C T rs139651403 PKD1L1 Nonsynonymous SNV G211R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.64 323737 chr1 161090390 161090390 G A rs772746414 NIT1 Nonsynonymous SNV M258I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 323738 chr8 144464060 144464060 G A rs200199618 RHPN1 Synonymous SNV T573T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.095 323739 chr8 144641949 144641949 G A rs138868380 GSDMD Nonsynonymous SNV V74M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.124 323740 chr7 48318441 48318441 C T rs114418661 ABCA13 Synonymous SNV D2550D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.899 323741 chr1 16343647 16343647 C G rs779290288 HSPB7 Synonymous SNV A89A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.34 323742 chr8 144660318 144660318 G T rs896951 NAPRT Synonymous SNV A57A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 323743 chr7 48431529 48431529 C T rs73697164 ABCA13 Nonsynonymous SNV T3889M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.57 323744 chr8 144660319 144660319 G A rs896950 NAPRT Nonsynonymous SNV A57V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 323745 chr7 48443400 48443400 T C rs58244015 ABCA13 Synonymous SNV V3998V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.181 323746 chr7 48450254 48450254 C T rs73694618 ABCA13 Nonsynonymous SNV R4070C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.03 323747 chr8 144671848 144671848 T C rs34365735 EEF1D Nonsynonymous SNV Q135R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.032 323748 chr8 144671905 144671905 G A rs35331982 EEF1D Nonsynonymous SNV S116L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.9 323749 chr8 144672047 144672047 C T rs34547530 EEF1D Nonsynonymous SNV G69S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.036 323750 chr7 4900165 4900165 T C rs6964535 PAPOLB Nonsynonymous SNV K426R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 323751 chr8 144887372 144887372 G A rs782361677 SCRIB Synonymous SNV R860R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.22 323752 chr1 167517336 167517336 G A rs757530382 CREG1 Nonsynonymous SNV T126I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 323753 chr8 144940941 144940941 A G rs115688173 EPPK1 Synonymous SNV L2161L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.566 323754 chr8 144942477 144942477 C T rs138137510 EPPK1 Nonsynonymous SNV V1649I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 323755 chr7 5385413 5385413 C T rs116725865 TNRC18 Synonymous SNV E1833E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.45 323756 chr8 144993831 144993831 C T rs373820763 PLEC Synonymous SNV A3372A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.654 323757 chr7 54617881 54617881 G A rs148373742 VSTM2A Nonsynonymous SNV E218K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 323758 chr7 5467508 5467508 T C rs193121412 LOC100129484 Synonymous SNV T124T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.94 323759 chr8 144994779 144994779 G A rs377575422 PLEC Synonymous SNV P3056P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.773 323760 chr1 216737700 216737700 C T ESRRG Synonymous SNV L56L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.43 323761 chr8 145112144 145112144 C T rs78071726 OPLAH Nonsynonymous SNV R501Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.7 323762 chr7 6057574 6057574 G C AIMP2 Nonsynonymous SNV V89L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.81 323763 chr8 145165077 145165077 G A rs114553997 WDR97 Synonymous SNV S587S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.299 323764 chr8 145170552 145170552 C T rs61745399 WDR97 Synonymous SNV P1462P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 323765 chr7 64168297 64168297 C T rs75793851 ZNF107 Nonsynonymous SNV R576C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.9 323766 chr7 6426882 6426882 C G rs139010955 RAC1 Synonymous SNV T25T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.61 323767 chr8 145268000 145268000 G A rs12114251 MROH1 Synonymous SNV T415T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.667 323768 chr8 145278052 145278052 C T rs73368449 MROH1 Synonymous SNV H419H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.36 323769 chr1 173951941 173951941 T C RC3H1 Nonsynonymous SNV E231G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 323770 chr8 145616136 145616136 - G ADCK5 Frameshift insertion L144Pfs*41 0 0 0.003 0 0 0 0 1 0 0 0 0 323771 chr7 64452929 64452929 T A rs73365370 ERV3-1 Nonsynonymous SNV D159V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 323772 chr7 6590899 6590899 C T rs141533414 GRID2IP Nonsynonymous SNV V57M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 323773 chr8 145665833 145665833 T C rs142838243 TONSL Synonymous SNV A397A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.271 323774 chr7 6660831 6660831 C T rs61745889 ZNF853 Nonsynonymous SNV S55L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 323775 chr7 6691957 6691957 A G rs28613348 ZNF316 Nonsynonymous SNV I244V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 323776 chr7 7136082 7136082 A G rs542751025 LOC100131257 0 0 0.003 0 0 0 0 1 0 0 0 0 3.276 323777 chr7 73012020 73012020 G T rs112990540 MLXIPL Synonymous SNV P365P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.008 323778 chr7 73256417 73256417 G A rs73702580 METTL27 Synonymous SNV A18A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 323779 chr7 73459575 73459575 G T rs61734581 ELN Nonsynonymous SNV V155L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 323780 chr7 73521469 73521469 G A rs149587131 LIMK1 Synonymous SNV S303S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.56 323781 chr7 75441170 75441170 C T rs11465312 CCL24 Nonsynonymous SNV A102T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.498 323782 chr8 110520010 110520010 T C PKHD1L1 Nonsynonymous SNV Y3705H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 323783 chr7 75684273 75684273 G A rs77424348 MDH2 Synonymous SNV V64V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.01 323784 chr8 120577138 120577138 C T ENPP2 Nonsynonymous SNV G730E 0.001 0 0 0 1 0 0 0 0 0 0 0 33 323785 chr8 88886134 88886134 T C rs376969727 DCAF4L2 Synonymous SNV G22G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.038 323786 chr7 77484073 77484073 C T rs140688025 PHTF2 Synonymous SNV T23T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.924 323787 chr7 78256443 78256443 A G rs34088845 MAGI2 Synonymous SNV T177T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.386 323788 chr7 80374574 80374574 C T rs765483267 SEMA3C Nonsynonymous SNV R649H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 323789 chr1 228346452 228346452 C G rs891962078 GJC2 Synonymous SNV P331P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.05 323790 chr7 82584710 82584710 T C rs61995912 PCLO Synonymous SNV R1853R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 0.297 323791 chr7 84710873 84710873 T A rs369780649 SEMA3D Nonsynonymous SNV E112V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 323792 chr8 125082683 125082738 ACAATCTTCTCCCTTTTCCCTAAAGATATATGACGGTGATCTCGAGAGTGAATTCA - FER1L6 I1279Tfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 323793 chr7 91630532 91630532 G A rs60031334 AKAP9 Nonsynonymous SNV R434Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.8 323794 chr1 228528870 228528870 C T rs367899115 OBSCN Synonymous SNV L5924L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.18 323795 chr8 133883772 133883772 C T rs372138161 TG Nonsynonymous SNV R152C 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Uncertain significance 32 323796 chr7 93072953 93072953 C T rs73419385 CALCR Synonymous SNV E255E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.15 323797 chr7 95775946 95775946 C T rs115266882 SLC25A13 Synonymous SNV V459V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.07 323798 chr1 231474273 231474273 G A SPRTN Synonymous SNV L48L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 323799 chr7 98515296 98515296 C T rs1138544 TRRAP Synonymous SNV L872L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.8 323800 chr8 139629168 139629168 G T rs769215973 COL22A1 Nonsynonymous SNV P1287T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 323801 chr7 99227589 99227589 C T rs58348332 ZSCAN25 Synonymous SNV S527S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 323802 chr8 141542651 141542651 G C AGO2 Nonsynonymous SNV L745V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 323803 chr8 142264769 142264769 C T rs763781367 LOC105375787 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 323804 chr8 28209228 28209228 A G rs142343457 ZNF395 Synonymous SNV A339A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 5.356 323805 chr8 28974453 28974453 G A rs371004713 KIF13B Synonymous SNV D1244D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.404 323806 chr8 29025075 29025075 C T rs761608308 KIF13B Nonsynonymous SNV A325T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 323807 chr1 19992937 19992937 A C HTR6 Nonsynonymous SNV S231R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.3 323808 chr8 37793286 37793286 G C rs202216080 GOT1L1 Nonsynonymous SNV P289A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 323809 chr8 141445265 141445265 G A rs779077167 TRAPPC9 Nonsynonymous SNV R269W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 323810 chr8 120754866 120754866 C T rs747453635 TAF2 Nonsynonymous SNV R1082Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 323811 chr8 120831728 120831728 T C rs112002462 TAF2 Nonsynonymous SNV I53V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.049 323812 chr8 143546234 143546234 G A ADGRB1 Synonymous SNV A225A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.431 323813 chr8 118184887 118184887 C T rs149843171 SLC30A8 Synonymous SNV P359P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 323814 chr8 124710758 124710758 G A rs747755549 ANXA13 Synonymous SNV F76F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 323815 chr1 24687455 24687458 ACTG - rs763364337 STPG1 Q224Mfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 323816 chr8 124141340 124141340 C A rs55959319 TBC1D31 Nonsynonymous SNV Q218K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.585 323817 chr8 12878778 12878778 G C rs116349412 TRMT9B Nonsynonymous SNV C71S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 323818 chr8 145773431 145773431 G T rs567062685 ARHGAP39 Synonymous SNV R347R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.238 323819 chr8 131226859 131226859 G A rs34870383 ASAP1 Synonymous SNV T116T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.54 323820 chr1 201185838 201185838 T G IGFN1 Synonymous SNV A3184A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.913 323821 chr1 210797011 210797011 C T HHAT Stop gain Q326X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 323822 chr1 20141135 20141135 G A rs370798476 RNF186 Nonsynonymous SNV R154C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 323823 chr1 212209243 212209243 A G rs141451521 DTL Nonsynonymous SNV N4S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.971 323824 chr8 18662360 18662360 C T rs150268532 PSD3 Synonymous SNV G27G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 323825 chr1 26387696 26387696 G A rs779566429 TRIM63 Synonymous SNV C154C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.712 323826 chr8 142367970 142367970 G A rs200385633 GPR20 Synonymous SNV T18T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 323827 chr9 101810239 101810239 A G rs142211886 COL15A1 Nonsynonymous SNV N917S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 323828 chr8 143625032 143625032 C T rs116142187 ADGRB1 Nonsynonymous SNV A1507V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.1 323829 chr9 19576948 19576948 C T rs757235686 SLC24A2 Nonsynonymous SNV R384K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 323830 chr8 144450675 144450675 C T rs114661767 RHPN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.325 323831 chr8 144640053 144640053 C A rs61173420 LOC100310756 0 0 0.003 0 0 0 0 1 0 0 0 0 3.684 323832 chr8 144641514 144641514 G T rs7840446 GSDMD Synonymous SNV S3S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.076 323833 chr8 144659898 144659898 C T rs180725439 NAPRT Synonymous SNV L122L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 323834 chr8 144668938 144668938 G A rs116669748 EEF1D Synonymous SNV Y26Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.24 323835 chr8 144789080 144789080 G A rs73718142 CCDC166 Synonymous SNV S368S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.941 323836 chr1 29527086 29527086 G A rs145192716 MECR Nonsynonymous SNV R182W 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 35 323837 chr9 33927880 33927880 C G rs16935295 UBAP2 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.93 323838 chr1 32163671 32163671 C T rs757571546 COL16A1 Nonsynonymous SNV D165N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 323839 chr8 144944262 144944262 T C rs201821354 EPPK1 Nonsynonymous SNV S1054G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 323840 chr8 144999243 144999243 G A rs7011480 PLEC Synonymous SNV A1604A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.355 323841 chr9 18680351 18680351 G T ADAMTSL1 Nonsynonymous SNV G393V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 323842 chr8 145007069 145007069 C A rs201164522 PLEC Nonsynonymous SNV E529D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.6 323843 chr1 226047048 226047048 T C TMEM63A Nonsynonymous SNV K409E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 323844 chr9 116060233 116060233 T C RNF183 Nonsynonymous SNV T78A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.777 323845 chr8 145108261 145108261 G A rs182172563 OPLAH Nonsynonymous SNV P908S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 323846 chr8 145133776 145133776 C T rs144167512 EXOSC4 Synonymous SNV L49L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 323847 chr8 145164544 145164544 - GCCTGCGCACCAGTCGCT rs551818005 WDR97 P443_T444insAHQSLP 0 0 0.003 0 0 0 0 1 0 0 0 0 323848 chr8 145165083 145165083 T G rs541984381 WDR97 Synonymous SNV T589T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.72 323849 chr8 145165368 145165368 C T rs145906584 WDR97 Synonymous SNV T656T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 323850 chr8 145166646 145166646 G C rs114486428 WDR97 Nonsynonymous SNV D867H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 323851 chr8 145223269 145223269 C T rs6984170 MROH1 Synonymous SNV L32L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 323852 chr9 72073076 72073076 T A rs762770097 APBA1 Nonsynonymous SNV K504M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 323853 chr9 26907917 26907917 T C PLAA Nonsynonymous SNV I556M 0 0 0 1 0 0 0.003 0 0 0 0 0 15.93 323854 chr8 145515511 145515511 C A rs189283411 HSF1 Synonymous SNV T24T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.08 323855 chr8 145540283 145540283 T A rs148218968 DGAT1 Synonymous SNV I467I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.68 323856 chr9 33442179 33442179 G A rs768600882 AQP3 Nonsynonymous SNV R175C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.68 323857 chr8 145678613 145678613 G A rs114045806 CYHR1 Synonymous SNV C201C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.664 323858 chr1 3732060 3732060 G T rs754145994 CEP104 Nonsynonymous SNV A895E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 323859 chr8 145726321 145726321 T A PPP1R16A Nonsynonymous SNV L335Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 323860 chr8 145739679 145739679 G A rs2721191 RECQL4 Nonsynonymous SNV P591L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.77 323861 chr8 145742513 145742513 G A rs200516441 RECQL4 Nonsynonymous SNV S92F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.516 323862 chr8 146003881 146003881 G A rs559426382 ZNF34 Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.545 323863 chr8 146017337 146017337 G A rs2955230 MIR6850 0 0 0.003 0 0 0 0 1 0 0 0 0 4.166 323864 chr8 146071493 146071495 CTC - rs138139928 ZNF7 P127del 0 0 0.003 0 0 0 0 1 0 0 0 0 323865 chr8 146279479 146279479 C G rs7812316 C8orf33 Nonsynonymous SNV S209C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.15 323866 chr8 1497129 1497129 C T rs202165145 DLGAP2 Synonymous SNV Y170Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.19 323867 chr9 124081062 124081062 C T rs753400828 GSN Synonymous SNV N416N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 323868 chr9 124086854 124086854 G T GSN Nonsynonymous SNV D501Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 323869 chr9 125281940 125281940 - C rs767061554 OR1J4 Frameshift insertion H176Pfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 323870 chr8 17400978 17400978 G A rs143701037 SLC7A2 Nonsynonymous SNV V44I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 323871 chr8 17409292 17409292 C A rs150214313 SLC7A2 Synonymous SNV P284P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 323872 chr8 17532727 17532727 G A rs112428784 MTUS1 Nonsynonymous SNV S30F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 323873 chr8 91937793 91937793 G A rs768996360 NECAB1 Synonymous SNV S175S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.84 323874 chr8 19818551 19818551 G A rs5934 LPL Nonsynonymous SNV A427T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.774 323875 chr9 126137510 126137510 C T CRB2 Nonsynonymous SNV T1174I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 323876 chr9 126144579 126144579 G A rs753030912 DENND1A Nonsynonymous SNV P732L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 323877 chr1 43855422 43855446 ACTCTCACCTGCATTGCGGCGGCCG - MED8 Star tloss M1? 0 0 0 1 0 0 0.003 0 0 0 0 0 323878 chr8 21608438 21608438 C T rs182149637 GFRA2 Synonymous SNV P19P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 323879 chr8 22059345 22059345 G A rs148687489 BMP1 Nonsynonymous SNV G713S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 323880 chr8 22459529 22459529 G A rs73672798 C8orf58 Synonymous SNV P234P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.512 323881 chr8 22865619 22865619 C T rs571326568 RHOBTB2 Nonsynonymous SNV R546W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 323882 chr1 45474841 45474841 G A HECTD3 Synonymous SNV I349I 0 0.003 0 0 0 1 0 0 0 0 0 0 17.26 323883 chr8 25154077 25154077 A G rs61732777 DOCK5 Synonymous SNV L173L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.428 323884 chr9 103015407 103015407 C - rs753348470 INVS Q159Kfs*25 0.001 0 0 0 1 0 0 0 0 0 0 0 323885 chr8 27151729 27151729 G A rs7837753 TRIM35 Synonymous SNV A178A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.04 323886 chr8 27457479 27457479 C T rs9331938 CLU Nonsynonymous SNV D328N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.84 323887 chr9 107550721 107550721 T C ABCA1 Nonsynonymous SNV K2019E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 323888 chr8 27957375 27957375 C A rs11544370 ELP3 Synonymous SNV G36G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.89 323889 chr8 28017805 28017805 C T rs10086494 ELP3 Synonymous SNV Y320Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.14 323890 chr8 28210809 28210809 G C rs145352684 ZNF395 Nonsynonymous SNV H234D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 323891 chr1 53543395 53543395 C T rs200900044 PODN Synonymous SNV S259S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.4 323892 chr1 52303199 52303199 C G NRDC Nonsynonymous SNV E110Q 0 0.003 0 0 0 1 0 0 0 0 0 0 14.58 323893 chr8 30700439 30700439 T C rs138454854 TEX15 Nonsynonymous SNV N2415S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.168 323894 chr8 30701131 30701131 G A rs61746109 TEX15 Synonymous SNV S2184S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.062 323895 chr9 135521293 135521293 T C rs768393782 DDX31 Nonsynonymous SNV M562V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 323896 chr8 37698738 37698738 G A rs113694495 ADGRA2 Nonsynonymous SNV G961D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 323897 chr9 135778098 135778098 T C rs118203670 TSC1 Nonsynonymous SNV N711S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.653 323898 chr8 37729305 37729305 G A rs146665678 RAB11FIP1 Synonymous SNV V1005V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.769 323899 chr8 37732583 37732583 T A rs7815364 RAB11FIP1 Nonsynonymous SNV T358S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.76 323900 chr8 37756906 37756906 G T rs375647022 RAB11FIP1 Synonymous SNV T18T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.836 323901 chr9 136208468 136208468 C G rs781993856 MED22 Nonsynonymous SNV D164H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.42 323902 chr1 247264450 247264450 A G rs143120801 ZNF669 Synonymous SNV H121H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 323903 chr8 52567282 52567282 C A rs74457466 PXDNL Nonsynonymous SNV S68I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 323904 chr8 54727234 54727234 C T rs114660750 ATP6V1H Synonymous SNV Q171Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 323905 chr9 138741984 138741984 G A rs374207546 CAMSAP1 Synonymous SNV D348D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 323906 chr8 56364429 56364429 G A rs138939179 SBF1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.313 323907 chr9 111745518 111745518 C T CTNNAL1 Synonymous SNV L269L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.37 323908 chr8 57287293 57287293 C T rs6987984 SDR16C6P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.873 323909 chr8 57287394 57287394 - ACGG rs138857774 SDR16C6P 0 0 0.003 0 0 0 0 1 0 0 0 0 323910 chr9 117846714 117846714 C T rs764267198 TNC Synonymous SNV T635T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 323911 chr8 59511917 59511917 C T rs36067275 NSMAF Nonsynonymous SNV E518K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 323912 chr1 62341040 62341040 T - rs755465552 PATJ 0 0 0 1 0 0 0.003 0 0 0 0 0 323913 chr8 67809138 67809138 C T rs35871529 MCMDC2 Nonsynonymous SNV P524S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.96 323914 chr8 68044286 68044286 C G rs73693125 CSPP1 Nonsynonymous SNV Q301E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.59 323915 chr8 72211325 72211325 C A rs146648560 EYA1 Synonymous SNV P261P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 323916 chr9 125487072 125487072 A C OR1L4 Synonymous SNV S268S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 323917 chr8 76476229 76476229 C T rs116212851 HNF4G Synonymous SNV L412L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 323918 chr8 144803770 144803770 T C rs781913233 MAPK15 Nonsynonymous SNV L419P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 323919 chr9 117185734 117185734 G A rs758197889 WHRN Synonymous SNV L145L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.33 323920 chr1 25893406 25893406 G T LDLRAP1 Nonsynonymous SNV A284S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 323921 chr8 88885500 88885500 T C rs756483952 DCAF4L2 Nonsynonymous SNV I234V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 323922 chr1 29385361 29385361 G A EPB41 Synonymous SNV R647R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.818 323923 chr9 100407934 100407934 G A rs140168536 NCBP1 Nonsynonymous SNV C18Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 323924 chr1 248512354 248512354 C T rs145207343 OR14C36 Nonsynonymous SNV A93V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 323925 chr9 131418992 131418992 G C rs544655044 WDR34 Nonsynonymous SNV A5G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.701 323926 chr9 101585541 101585541 C T rs114902755 GALNT12 Synonymous SNV C125C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.18 323927 chr9 101747885 101747885 A G rs115245175 COL15A1 Nonsynonymous SNV I47V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.49 323928 chr9 103046742 103046742 A G rs116314059 INVS Nonsynonymous SNV K316R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.149 323929 chr9 103340817 103340817 G A rs137921742 CAVIN4 Nonsynonymous SNV R131H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24.4 323930 chr1 86836712 86836712 T C rs771224704 ODF2L Nonsynonymous SNV T218A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.258 323931 chr9 103348453 103348453 G A rs755935790 CAVIN4 Nonsynonymous SNV R272H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 323932 chr9 132501905 132501905 C T rs202063610 PTGES Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 323933 chr9 35674211 35674211 A C rs775277745 CA9 Synonymous SNV G85G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 323934 chr1 249152442 249152442 G C rs199731891 ZNF692 Nonsynonymous SNV R28G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 323935 chr1 34011782 34011782 C T rs773103765 CSMD2 Synonymous SNV P2841P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 323936 chr1 36372620 36372620 G A rs368806171 AGO1 Synonymous SNV Q419Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.875 323937 chr9 114156579 114156579 T C rs61741388 ECPAS Nonsynonymous SNV K928R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 323938 chr1 91989725 91989725 A G rs757274840 CDC7 Synonymous SNV Q486Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.71 323939 chr9 135464735 135464735 C T rs201426274 BARHL1 Synonymous SNV N270N 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.84 323940 chr9 136343418 136343418 A G SLC2A6 Synonymous SNV D71D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.431 323941 chr1 94508323 94508323 G A rs61750120 ABCA4 Nonsynonymous SNV R1108C 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 323942 chr1 40768845 40768845 T C rs201661697 COL9A2 Nonsynonymous SNV T521A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 323943 chr9 116798653 116798653 T C rs60103250 ZNF618 Synonymous SNV H381H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 323944 chr9 116930454 116930454 G A rs143912297 COL27A1 Nonsynonymous SNV V207I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.37 323945 chr1 9793475 9793475 T C CLSTN1 Nonsynonymous SNV N785S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 323946 chr9 123201733 123201733 T C rs77925703 CDK5RAP2 Synonymous SNV Q992Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 4.518 323947 chr9 124522544 124522544 G A rs34334373 DAB2IP Synonymous SNV A208A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 323948 chr9 125075600 125075600 A G rs2297483 MRRF Nonsynonymous SNV M164V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.375 323949 chr9 135985862 135985862 C T rs145622114 RALGDS Synonymous SNV S48S 0 0 0 1 0 0 0.003 0 0 0 0 0 20.2 323950 chrM 1694 1694 A G RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 323951 chrM 771 771 G A RNR1 0 0 0.014 0 0 0 0 4 0 0 2 0 323952 chr9 126247843 126247843 T C rs73665303 MIR7150 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 323953 chr9 127572564 127572564 G A rs765852707 OLFML2A Nonsynonymous SNV R397H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 323954 chr9 138713137 138713137 T C rs767616475 CAMSAP1 Nonsynonymous SNV T1124A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.8 323955 chr20 20621357 20621357 T C RALGAPA2 Nonsynonymous SNV S180G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 323956 chrX 11157162 11157162 C T rs201148704 ARHGAP6 Nonsynonymous SNV E736K 0 0 0.007 0 0 0 0 2 0 0 1 0 0.792 323957 chr20 23345586 23345586 G C rs752683173 GZF1 Nonsynonymous SNV S189T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 323958 chr9 130677073 130677073 G C rs73669495 ST6GALNAC4 Synonymous SNV V20V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.968 323959 chr9 130891136 130891136 C G rs73669645 PTGES2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.851 323960 chr9 130891452 130891452 T A rs73669646 PTGES2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.127 323961 chr9 131038575 131038575 G C rs115231472 SWI5 Nonsynonymous SNV V51L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.41 323962 chrX 129055283 129055283 C G rs940392553 UTP14A Synonymous SNV L304L 0 0 0.007 0 0 0 0 2 0 0 1 0 12.98 323963 chr9 131183292 131183292 C T rs115294367 CERCAM Synonymous SNV L46L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 323964 chr9 13123295 13123295 T C rs16930134 MPDZ Nonsynonymous SNV T1571A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.327 323965 chr9 13205985 13205985 G A rs113448701 MPDZ Synonymous SNV A468A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.233 323966 chr9 132501906 132501906 G A rs10119273 PTGES Nonsynonymous SNV A148V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 323967 chr9 132632062 132632062 G A rs193265694 USP20 Nonsynonymous SNV A502T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 323968 chr1 5940229 5940229 G A rs775487057 NPHP4 Synonymous SNV N340N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.373 323969 chr20 31368168 31368168 C T rs147580720 DNMT3B Synonymous SNV D13D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 19.15 323970 chrX 153689978 153689978 C T rs201950962 PLXNA3 Synonymous SNV T378T 0 0 0.007 0 0 0 0 2 0 0 1 0 9.159 323971 chr9 135204769 135204769 C T rs36024203 SETX Nonsynonymous SNV G739E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 25.2 323972 chr1 63119425 63119425 A G rs375019438 DOCK7 Synonymous SNV Y120Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.055 323973 chr20 34458933 34458933 C T rs368610578 PHF20 Nonsynonymous SNV R327C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 323974 chrX 24197333 24197335 TTG - ZFX V33del 0 0 0.007 0 0 0 0 2 0 0 1 0 323975 chr9 136297743 136297743 C T rs115943536 ADAMTS13 Nonsynonymous SNV P341L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.8 323976 chr9 137544618 137544618 C T rs73556965 COL5A1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.618 323977 chr9 137777727 137777727 C T rs34789496 FCN2 Synonymous SNV H143H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.17 323978 chr10 23290966 23290966 A G rs771171393 ARMC3 Nonsynonymous SNV N252S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 323979 chr9 138903523 138903523 C A rs78238245 NACC2 Nonsynonymous SNV A535S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 323980 chr9 139229069 139229069 C T rs61739402 GPSM1 Synonymous SNV Y78Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.812 323981 chr10 24825761 24825761 G A rs145406190 KIAA1217 Nonsynonymous SNV R841Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 323982 chr9 139324761 139324761 G A rs143552175 INPP5E Synonymous SNV L589L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 11.94 323983 chr9 139391432 139391432 G A rs770738954 NOTCH1 Synonymous SNV P2253P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.048 323984 chr9 139391455 139391455 G A NOTCH1 Nonsynonymous SNV H2246Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24 323985 chr20 42680133 42680133 C T rs1055016025 TOX2 Nonsynonymous SNV T158I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 323986 chr9 139401289 139401289 C G rs201354526 NOTCH1 Synonymous SNV V1260V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.87 323987 chr9 139617470 139617470 G A rs79974881 DIPK1B Nonsynonymous SNV M180I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 323988 chr10 7608295 7608295 C T rs560482680 ITIH5 Nonsynonymous SNV R528H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 323989 chr9 139641868 139641868 C G rs112531276 LOC100128593 0 0 0.003 0 0 0 0 1 0 0 0 0 1.607 323990 chr9 139750511 139750511 G A rs61747973 MAMDC4 Nonsynonymous SNV A544T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.911 323991 chr9 139879408 139879408 - GGCCCCTCCCTGCCCCTCT rs565146436 LCNL1 Frameshift insertion L154Gfs*89 0 0 0.003 0 0 0 0 1 0 0 0 0 323992 chr9 139925459 139925459 G A rs11145973 FUT7 Synonymous SNV N244N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.206 323993 chr9 140079492 140079492 G A rs150324552 ANAPC2 Synonymous SNV D307D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.537 323994 chr9 140094195 140094195 G A rs145558759 TPRN Synonymous SNV L323L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.799 323995 chr1 8420692 8420692 T C rs751542034 RERE Nonsynonymous SNV M405V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.608 323996 chr9 140110238 140110238 T C rs76182525 NDOR1 Synonymous SNV R438R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.556 323997 chr10 43608383 43608383 C G RET Nonsynonymous SNV D323E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.046 323998 chr9 140127685 140127685 C T rs387907515 SLC34A3 Synonymous SNV H195H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.749 323999 chr1 65895651 65895651 C T rs147651845 LEPROT Nonsynonymous SNV R67W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 324000 chr9 140357239 140357239 G A rs376246625 PNPLA7 Synonymous SNV D1105D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.319 324001 chr9 140389538 140389538 A G rs10123340 PNPLA7 Synonymous SNV L667L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.122 324002 chr9 140777365 140777365 G A rs202174433 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 1.737 324003 chr9 14398561 14398561 T A rs114558598 NFIB Nonsynonymous SNV I24F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 324004 chr20 51873052 51873052 A T rs756061391 TSHZ2 Stop gain K1016X 0 0 0 1 0 0 0.003 0 0 0 0 0 44 324005 chr1 89732028 89732028 C T rs140405391 GBP5 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 324006 chr9 19080548 19080548 C T rs139689694 HAUS6 Synonymous SNV T331T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 324007 chr9 19116630 19116630 A G rs141685840 PLIN2 Synonymous SNV T310T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 324008 chr9 19516177 19516177 T A rs150269980 SLC24A2 Nonsynonymous SNV I637F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 324009 chr9 20413989 20413989 C T rs146067491 MLLT3 Synonymous SNV P282P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.46 324010 chr9 21077371 21077371 T C rs141894933 IFNB1 Nonsynonymous SNV I166M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.94 324011 chr9 21077689 21077689 G T rs34130181 IFNB1 Nonsynonymous SNV D60E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.219 324012 chr9 2123799 2123799 C T rs61736902 SMARCA2 Synonymous SNV P1281P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.37 324013 chr9 21854729 21854729 T G rs148068697 MTAP Nonsynonymous SNV F184V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.298 324014 chr9 24545451 24545451 G A rs115864215 IZUMO3 Nonsynonymous SNV S66F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 324015 chr20 60886768 60886768 C T rs764380664 LAMA5 Synonymous SNV P3236P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.2 324016 chr20 57768151 57768151 - G ZNF831 Frameshift insertion N695Kfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 324017 chr9 26842540 26842540 T C rs78010836 CAAP1 Nonsynonymous SNV N137S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 324018 chr9 27036487 27036487 C T rs73643131 IFT74 Nonsynonymous SNV T365I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.407 324019 chr9 27158010 27158010 G A rs55892210 TEK Synonymous SNV V78V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.51 324020 chr9 27183598 27183598 C T rs34032300 TEK Nonsynonymous SNV T244I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.4 324021 chr10 30749658 30749658 G A rs145710720 MAP3K8 Nonsynonymous SNV E433K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324022 chr10 53921718 53921718 A G rs75650199 PRKG1 Synonymous SNV K342K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Benign/Likely benign 7.966 324023 chr9 32489407 32489407 T C rs141808660 DDX58 Nonsynonymous SNV N245S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.415 324024 chr20 60791410 60791410 C T rs199993900 HRH3 Synonymous SNV S330S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.24 324025 chr9 32542963 32542963 T C rs61756347 TOPORS Synonymous SNV Q455Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.002 324026 chr9 328079 328079 G A rs35482838 DOCK8 Nonsynonymous SNV A250T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 13.11 324027 chr10 61833038 61833038 T C ANK3 Nonsynonymous SNV E2534G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 324028 chr9 34255948 34255948 G A rs148533597 KIF24 Synonymous SNV L1219L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.889 324029 chr9 34306308 34306308 T C rs77040842 KIF24 Nonsynonymous SNV E252G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 324030 chr9 34623633 34623633 G C rs77754952 ARID3C Nonsynonymous SNV D218E 0 0 0.003 0 0 0 0 1 0 0 0 0 23 324031 chr9 34649053 34649053 C T rs115527942 GALT Synonymous SNV S184S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.45 324032 chr9 34658651 34658651 C T rs201638429 IL11RA Nonsynonymous SNV R261C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 324033 chr9 34709580 34709580 T C rs142807238 CCL21 Synonymous SNV P96P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.034 324034 chr9 130947921 130947921 C T CIZ1 Nonsynonymous SNV V141I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.56 324035 chr9 35074490 35074490 A G rs45537335 FANCG Synonymous SNV G546G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.957 324036 chr9 35562893 35562893 C T rs73645468 FAM166B Synonymous SNV P157P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 324037 chr10 64960262 64960262 T C rs369497646 JMJD1C Synonymous SNV V1531V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.088 324038 chr9 35957728 35957728 C T rs2233563 OR2S2 Nonsynonymous SNV R123H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 324039 chr9 36066856 36066856 A G rs10511926 RECK Nonsynonymous SNV K4E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 324040 chr9 36102185 36102185 A G rs145575211 RECK Nonsynonymous SNV T465A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.793 324041 chr10 70645552 70645552 A G rs371799854 STOX1 Nonsynonymous SNV Q667R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 324042 chr9 37744509 37744509 G A rs34100169 FRMPD1 Nonsynonymous SNV G827E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.158 324043 chr10 35103812 35103812 T A PARD3 Nonsynonymous SNV I38F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 324044 chr9 7105482 7105482 C T KDM4C Synonymous SNV I897I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.528 324045 chr9 713262 713262 G C rs143785996 KANK1 Nonsynonymous SNV K674N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 324046 chr9 72723380 72723380 C T rs115193308 MAMDC2 Synonymous SNV N134N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 324047 chr20 62329762 62329762 G A rs377030676 TNFRSF6B Nonsynonymous SNV R250H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 324048 chr21 16337165 16337165 A C rs751229187 NRIP1 Nonsynonymous SNV S1117A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 324049 chr9 79323702 79323702 G A rs145706309 PRUNE2 Nonsynonymous SNV P1163L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.844 324050 chr9 8331734 8331734 G A rs143526425 PTPRD Synonymous SNV D1387D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.882 324051 chr20 2464528 2464528 C T rs779048796 ZNF343 Nonsynonymous SNV R270Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 324052 chr9 94172195 94172195 C T rs35317894 NFIL3 Synonymous SNV T274T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.8 324053 chr9 94712239 94712239 G A rs539329891 ROR2 Nonsynonymous SNV R3W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26 324054 chr9 95411816 95411816 G A rs16908484 IPPK Synonymous SNV Y111Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.46 324055 chr21 32253356 32253356 C T rs750526003 KRTAP11-1 Nonsynonymous SNV C163Y 0 0 0 1 0 0 0.003 0 0 0 0 0 27.7 324056 chr20 30496425 30496425 G A rs376433493 TTLL9 Nonsynonymous SNV V80I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 324057 chr21 34924672 34924672 C T rs142436841 SON Synonymous SNV Y1045Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 2.1 324058 chr10 93572893 93572893 A G rs61756248 TNKS2 Nonsynonymous SNV N118S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 324059 chrUn_gl000220 118258 118258 A G RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 324060 chrUn_gl000220 118417 118422 CCGCGC - RNA28SN1, RNA28SN2, RNA28SN3, RNA28SN4, RNA28SN5, RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 324061 chrUn_gl000220 122142 122150 TCCTCCTCC - LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 324062 chrUn_gl000220 122153 122153 C G LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 324063 chr20 31827677 31827677 A G rs766661598 BPIFA1 Nonsynonymous SNV Y130C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 324064 chr20 34053939 34053939 T G rs911048979 CEP250 Synonymous SNV L134L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.821 324065 chrX 105153813 105153813 G A rs33936206 NRK Nonsynonymous SNV R727H 0 0 0.007 0 0 0 0 2 0 0 1 0 18.78 324066 chrX 106083331 106083331 A G rs73531168 TBC1D8B Synonymous SNV G469G 0 0 0.007 0 0 0 0 2 0 0 1 0 8.102 324067 chrX 110439144 110439144 C T rs150174049 PAK3 Synonymous SNV L395L 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 15.23 324068 chr21 43221763 43221763 C T rs147459914 PRDM15 Synonymous SNV P1058P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.93 324069 chrX 12906714 12906714 A G rs5741881 TLR7 Synonymous SNV L1029L 0 0 0.007 0 0 0 0 2 0 0 1 0 0.014 324070 chr10 83992565 83992565 A T rs147072011 NRG3 Nonsynonymous SNV K82N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.857 324071 chr10 101668853 101668853 A T DNMBP Nonsynonymous SNV S403T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 324072 chr10 101825122 101825122 T C rs190183597 CPN1 Synonymous SNV E194E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.636 324073 chr21 45173480 45173480 C T rs8127335 PDXK Synonymous SNV S173S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.62 324074 chr21 45196136 45196136 C A rs4533 CSTB Synonymous SNV A5A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 19.83 324075 chrX 14263123 14263123 T C rs112706401 UBE2E4P 0 0 0.007 0 0 0 0 2 0 0 1 0 13.13 324076 chr21 45977995 45977995 T C rs181516402 KRTAP10-3 Nonsynonymous SNV T202A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 324077 chr10 105218243 105218243 C T rs750491195 CALHM1 Nonsynonymous SNV R89Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 324078 chr21 46117317 46117317 T C rs533970686 KRTAP10-12 Synonymous SNV C67C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 324079 chrX 15474134 15474134 C A rs35715407 PIR Nonsynonymous SNV C106F 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 21.4 324080 chrX 17745427 17745427 T C rs56908561 NHS Synonymous SNV S869S 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.002 324081 chrX 17745430 17745430 A G rs56691712 NHS Synonymous SNV L870L 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.029 324082 chrX 18221746 18221746 A C rs74391498 BEND2 Nonsynonymous SNV V261G 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.005 324083 chrX 18221980 18221980 C A rs75342823 BEND2 Nonsynonymous SNV S183I 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 21.9 324084 chr21 47966923 47966923 C T rs201247049 DIP2A Synonymous SNV A787A 0 0 0 1 0 0 0.003 0 0 0 0 0 17.64 324085 chrX 19482365 19482365 T A rs368529898 MAP3K15 Nonsynonymous SNV I229F 0 0 0.007 0 0 0 0 2 0 0 1 0 24.8 324086 chrX 23722902 23722902 C A rs61734725 ACOT9 Synonymous SNV L320L 0 0 0.007 0 0 0 0 2 0 0 1 0 7.312 324087 chrX 24228383 24228383 G A rs142947188 ZFX Synonymous SNV S207S 0 0 0.007 0 0 0 0 2 0 0 1 0 3.454 324088 chrX 24762686 24762686 T A SCARNA23 0 0 0.007 0 0 0 0 2 0 0 1 0 3.687 324089 chrX 31089841 31089841 C T rs61739942 FTHL17 Nonsynonymous SNV R77H 0 0 0.007 0 0 0 0 2 0 0 1 0 25.7 324090 chr10 115885790 115885790 T C rs759827116 CCDC186 Nonsynonymous SNV H823R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 324091 chrX 32383146 32383146 A T rs16990264 DMD Nonsynonymous SNV N331K 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 20.5 324092 chrX 32383284 32383284 C A rs61733574 DMD Synonymous SNV V285V 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 13.03 324093 chrX 32429940 32429940 A C rs28715870 DMD Nonsynonymous SNV F47V 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 9.041 324094 chr10 99439524 99439524 C T rs773089599 AVPI1 Nonsynonymous SNV G47R 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324095 chr10 116335339 116335339 T C rs34145182 ABLIM1 Synonymous SNV A73A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.002 324096 chr10 118434597 118434597 C T rs368656432 HSPA12A Nonsynonymous SNV D575N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 324097 chrX 38176636 38176636 C A rs5963403 RPGR Nonsynonymous SNV Q184H 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.021 324098 chr20 46275917 46275917 A C rs149561356 NCOA3 Nonsynonymous SNV Q1118P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.612 324099 chrX 8095011 8095011 A G rs144909301 MIR651 0 0 0.007 0 0 0 0 2 0 0 1 0 2.436 324100 chrX 9707609 9707609 T C rs34324958 GPR143 Nonsynonymous SNV M346V 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 0.031 324101 chr22 25599759 25599759 G T rs183587921 CRYBB3 Nonsynonymous SNV R75L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 14.4 324102 chrX 99922339 99922339 C A rs149051060 SRPX2 Nonsynonymous SNV L344I 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 32 324103 chrY 15447966 15447966 A T UTY Nonsynonymous SNV S591T 0 0 0.007 0 0 0 0 2 0 0 1 0 6.26 324104 chr10 105202021 105202021 G A rs144882489 PDCD11 Nonsynonymous SNV E1587K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 324105 chr10 123970587 123970587 C T rs2295875 TACC2 Nonsynonymous SNV P294L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.993 324106 chr10 123996934 123996934 G A rs2295878 TACC2 Nonsynonymous SNV V766I 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 324107 chr10 124183744 124183744 T C rs778040157 PLEKHA1 Synonymous SNV L237L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.202 324108 chr11 199381 199381 G A rs200529976 ODF3 Nonsynonymous SNV A183T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 324109 chr10 61829388 61829388 T C rs200489439 ANK3 Nonsynonymous SNV S3751G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 7.84 324110 chr22 37334352 37334352 G A rs16997520 CSF2RB Synonymous SNV S834S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.06 324111 chr10 127350462 127350462 G A rs1051324928 TEX36 Nonsynonymous SNV R46W 0 0 0.003 0 0 0 0 1 0 0 0 0 3.14 324112 chr10 73052274 73052274 G A rs756568480 UNC5B Nonsynonymous SNV E568K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 324113 chr22 41985801 41985801 G A rs151061108 PMM1 Synonymous SNV V3V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.22 324114 chr21 16339815 16339815 C G rs190171837 NRIP1 Synonymous SNV P233P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.147 324115 chr22 43567876 43567876 G A rs17003544 TTLL12 Synonymous SNV Y508Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.29 324116 chr10 134705855 134705855 C T CFAP46 Nonsynonymous SNV E1096K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.43 324117 chr10 135020700 135020700 C G rs770420278 KNDC1 Nonsynonymous SNV I1213M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 324118 chr11 1101127 1101127 C T rs200652961 MUC2 Nonsynonymous SNV T2509M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 324119 chr10 23248457 23248457 C A rs150310367 ARMC3 Nonsynonymous SNV P164Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 324120 chr10 294887 294887 A G rs777109374 ZMYND11 Synonymous SNV K413K 0 0 0.003 0 0 0 0 1 0 0 0 0 4.83 324121 chr21 44270303 44270303 G A rs530476358 WDR4 Synonymous SNV F364F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 324122 chr2 1094066 1094066 G A rs200509062 SNTG2 Nonsynonymous SNV V99I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 324123 chr22 19119445 19119445 C A TSSK2 Stop gain S178X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 324124 chr10 35896944 35896944 T C GJD4 Nonsynonymous SNV L168P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 324125 chr11 4842882 4842882 G T OR51F2 Synonymous SNV L77L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.402 324126 chr10 48390461 48390461 C T rs782585106 RBP3 Synonymous SNV P139P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.781 324127 chr2 128335753 128335753 G A rs775172263 MYO7B Nonsynonymous SNV A299T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 324128 chr10 50315846 50315846 C T rs34832077 VSTM4 Nonsynonymous SNV V84M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 324129 chr22 18003270 18003270 T C rs371557341 CECR2 Synonymous SNV L198L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.609 324130 chr22 24720253 24720253 G A rs147450336 SPECC1L Synonymous SNV T668T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.95 324131 chr22 19137754 19137754 C T rs782517302 GSC2 Nonsynonymous SNV G15R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.517 324132 chr22 19950063 19950063 C T COMT Nonsynonymous SNV P5L 0.001 0 0 0 1 0 0 0 0 0 0 0 drug response 23.6 324133 chr10 5558333 5558333 T C CALML3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.335 324134 chr2 137814354 137814354 A T THSD7B Synonymous SNV T168T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 324135 chr10 60556165 60556165 C T rs372910652 BICC1 Synonymous SNV L415L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 324136 chr10 120354347 120354347 A T PRLHR Nonsynonymous SNV V137D 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 324137 chr2 152484327 152484327 G A rs370572955 NEB Nonsynonymous SNV R3042C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.8 324138 chr10 68687970 68687970 C G LRRTM3 Synonymous SNV L432L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 324139 chr22 32874971 32874971 T C FBXO7 Synonymous SNV S42S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.809 324140 chr10 72531154 72531154 G A rs149097055 TBATA Nonsynonymous SNV S346L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 324141 chr11 6569237 6569237 T C DNHD1 Nonsynonymous SNV L2291S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 324142 chr2 163080138 163080138 G A FAP Synonymous SNV Y106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 6.562 324143 chr11 6643194 6643194 G A rs774601128 DCHS1 Nonsynonymous SNV P3238L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 324144 chr11 6662244 6662244 C T rs759393849 DCHS1 Nonsynonymous SNV G201R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 324145 chr2 168106460 168106460 T C rs200905188 XIRP2 Nonsynonymous SNV V2631A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.46 324146 chr11 8115703 8115703 G A rs201324153 TUB Nonsynonymous SNV A122T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.25 324147 chr11 8719085 8719085 G A rs753003932 DENND2B Synonymous SNV S593S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 324148 chr2 179482713 179482713 C T TTN Nonsynonymous SNV E6724K 0 0 0 1 0 0 0.003 0 0 0 0 0 21.7 324149 chr2 179574305 179574305 T C rs371826762 TTN Nonsynonymous SNV I8337V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.123 324150 chr11 12030006 12030006 G T rs767595701 DKK3 Nonsynonymous SNV Q42K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.4 324151 chr10 97081753 97081753 A G rs773016805 SORBS1 Nonsynonymous SNV V614A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 324152 chr22 39928700 39928700 G A RPS19BP1 Nonsynonymous SNV A15V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.95 324153 chr11 639537 639537 C T rs767203581 DRD4 Synonymous SNV S130S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 324154 chr11 18743216 18743216 C A IGSF22 Nonsynonymous SNV D82Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 324155 chr11 1016819 1016819 G T rs369828826 MUC6 Synonymous SNV T1994T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.708 324156 chr2 196729428 196729428 T C rs768421647 DNAH7 Synonymous SNV R2317R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 324157 chr2 196825024 196825024 G A rs764315694 DNAH7 Stop gain R951X 0 0 0 1 0 0 0.003 0 0 0 0 0 38 324158 chr11 18253070 18253070 G T SAA2-SAA4, SAA4 Nonsynonymous SNV D124E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.31 324159 chr2 198266713 198266713 C T rs776846119 SF3B1 Nonsynonymous SNV G740E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 324160 chr11 47350635 47350635 G T rs184207033 MADD Synonymous SNV S1523S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 324161 chr11 103082651 103082651 A G rs765650395 DYNC2H1 Synonymous SNV L2891L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.194 324162 chr11 1074964 1074964 G T MUC2 Synonymous SNV S21S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.555 324163 chr11 108384967 108384967 C T EXPH5 Nonsynonymous SNV V235I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.126 324164 chr2 216251436 216251436 A C rs1012955423 FN1 Nonsynonymous SNV L1439V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 324165 chr11 2905266 2905266 C T CDKN1C Nonsynonymous SNV V307M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.6 324166 chr2 219754712 219754712 G A rs121908121 WNT10A Nonsynonymous SNV R128Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 34 324167 chr11 117261916 117261916 A G rs750395570 CEP164 Synonymous SNV E759E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.144 324168 chr11 4147958 4147958 C G rs769895469 RRM1 Synonymous SNV V117V 0 0.003 0 0 0 1 0 0 0 0 0 0 9.338 324169 chr2 220111533 220111533 G A rs201550308 STK16 Nonsynonymous SNV V81M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.66 324170 chr2 128261099 128261099 C T rs34785867 IWS1 Nonsynonymous SNV V425I 0.001 0 0 0 1 0 0 0 0 0 0 0 6.497 324171 chr2 128263081 128263081 G C rs776881389 IWS1 Nonsynonymous SNV S133C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 324172 chr2 128341904 128341904 G A rs61743462 MYO7B Synonymous SNV P517P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.273 324173 chr2 128459132 128459132 G A rs770446976 SFT2D3 Synonymous SNV E10E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 324174 chr2 118582624 118582624 A C rs760534940 DDX18 Nonsynonymous SNV K439Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 324175 chr11 56020514 56020514 T C rs759450999 OR5T3 Nonsynonymous SNV I280T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 324176 chr11 122889200 122889200 A T LOC341056 0 0 0.003 0 0 0 0 1 0 0 0 0 2.904 324177 chr2 15415856 15415856 T C rs376865596 NBAS Nonsynonymous SNV I1826V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.6 324178 chr2 232263617 232263617 G A rs200686775 B3GNT7 Nonsynonymous SNV R396H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 324179 chr2 152500358 152500358 G A rs747546709 NEB Nonsynonymous SNV R2644W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324180 chr2 167108386 167108386 G A rs190664764 SCN9A Nonsynonymous SNV R1121W 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.1 324181 chr2 237103618 237103618 C T rs749930126 ASB18 Nonsynonymous SNV R433H 0 0 0 1 0 0 0.003 0 0 0 0 0 33 324182 chr11 17590758 17590758 G A rs142253169 OTOG Nonsynonymous SNV R579Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 324183 chr11 58920804 58920804 A T FAM111A Nonsynonymous SNV M555L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 324184 chr11 59224624 59224624 G A rs201750242 OR4D6 Nonsynonymous SNV R64Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 324185 chr2 172582757 172582757 G A rs371436419 DYNC1I2 Nonsynonymous SNV R267H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 324186 chr2 178576564 178576564 C T rs74666005 PDE11A Nonsynonymous SNV A252T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 324187 chr11 60899450 60899450 C T VPS37C Nonsynonymous SNV A304T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.908 324188 chr2 26647184 26647184 C T rs200560247 DRC1 Synonymous SNV F134F 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 10.12 324189 chr2 24522988 24522988 C T ITSN2 Synonymous SNV L378L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 324190 chr2 27305585 27305585 G T rs377395869 EMILIN1 Synonymous SNV R382R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 324191 chr2 179599143 179599143 C T rs761269554 TTN Synonymous SNV S3892S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.93 324192 chr2 27447675 27447675 A G rs202046521 CAD Synonymous SNV T439T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.952 324193 chr2 27717521 27717521 G C rs199866377 FNDC4 Nonsynonymous SNV P9R 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 324194 chr2 25464439 25464439 G A DNMT3A Stop gain Q540X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 324195 chr2 28824163 28824163 C T rs143535260 PLB1 Synonymous SNV I846I 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Benign 12.73 324196 chr2 190339047 190339047 G A rs151070438 WDR75 Nonsynonymous SNV A729T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 324197 chr2 31600047 31600047 C A rs370440638 XDH Nonsynonymous SNV K433N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 324198 chr2 198359468 198359468 C T rs764674576 HSPD1 Synonymous SNV T173T 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 18.9 324199 chr11 47200008 47200008 T G rs775159049 PACSIN3 Nonsynonymous SNV E356D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.152 324200 chr11 47353780 47353780 C A rs770157084 MYBPC3 Synonymous SNV L1219L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.46 324201 chr2 44128505 44128505 A G rs750234005 LRPPRC Nonsynonymous SNV S1175P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 324202 chr2 72945368 72945368 C T rs199798987 EXOC6B Nonsynonymous SNV R65Q 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324203 chr2 220353017 220353017 A G rs192191689 SPEG Nonsynonymous SNV I2615V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 324204 chr2 74684497 74684497 C T rs759658835 INO80B Nonsynonymous SNV P193S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.175 324205 chr2 220476518 220476518 C T rs780847120 STK11IP Nonsynonymous SNV P766L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.113 324206 chr11 100803887 100803887 C G ARHGAP42 Nonsynonymous SNV L200V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 324207 chr11 101374812 101374812 C T rs144891994 TRPC6 Synonymous SNV T296T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 15.18 324208 chr2 237123259 237123259 C T rs1015800358 ASB18 Nonsynonymous SNV G283R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 324209 chr11 118773716 118773716 G A rs761151862 BCL9L Nonsynonymous SNV R273W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 324210 chr11 118896460 118896460 G A SLC37A4 Nonsynonymous SNV A331V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.66 324211 chr2 242207041 242207041 C T rs569372914 HDLBP Nonsynonymous SNV R8H 0.001 0 0 0 1 0 0 0 0 0 0 0 2.922 324212 chr2 242573338 242573338 G A rs112839271 THAP4 Synonymous SNV P78P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 324213 chr2 242648743 242648743 G A rs113819262 ING5 Synonymous SNV K74K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 324214 chr11 60668144 60668144 G A rs764428172 PRPF19 Synonymous SNV V246V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.578 324215 chr2 28812907 28812907 - T rs759020173 PLB1 Stop gain E675* 0.001 0 0.003 0 1 0 0 1 0 0 0 0 324216 chr11 123597574 123597574 C A ZNF202 Nonsynonymous SNV D136Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 324217 chr2 3502834 3502834 C T rs148975364 ADI1 Nonsynonymous SNV R141Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 324218 chr2 3691462 3691462 C T rs1017265813 COLEC11 Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.462 324219 chr11 126080864 126080864 A G RPUSD4 Synonymous SNV A92A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.25 324220 chr2 55096476 55096476 C A EML6 Nonsynonymous SNV P737Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 324221 chr11 123813845 123813845 C T rs374517882 OR6T1 Nonsynonymous SNV R234Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.11 324222 chr11 67184949 67184949 C T CARNS1 Synonymous SNV P25P 0 0 0.007 0 0 0 0 2 0 0 1 0 11.41 324223 chr11 68029458 68029458 G A rs777610296 C11orf24 Synonymous SNV A335A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.879 324224 chr3 153202333 153202333 C T C3orf79 0 0 0 1 0 0 0.003 0 0 0 0 0 6.36 324225 chr11 6912919 6912919 C T rs181589622 OR2D2 Synonymous SNV S271S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 324226 chr11 69588168 69588168 A G FGF4 Nonsynonymous SNV M177T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.1 324227 chr11 69589616 69589616 G A rs759866513 FGF4 Synonymous SNV G79G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 324228 chr12 10959285 10959285 T G TAS2R8 Nonsynonymous SNV I99L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.16 324229 chr3 164907468 164907468 T C rs773631847 SLITRK3 Nonsynonymous SNV N384S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.322 324230 chr2 74641580 74641580 A G rs372622223 C2orf81 Nonsynonymous SNV M480T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 324231 chr3 17418024 17418024 G A rs1010884969 TBC1D5 Stop gain Q96X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 324232 chr2 85824624 85824624 G A rs148575905 RNF181 Synonymous SNV T153T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 324233 chr3 184094103 184094103 C T rs187556243 THPO Nonsynonymous SNV G122E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.8 324234 chr11 8476315 8476315 G A STK33 Synonymous SNV N67N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.297 324235 chr3 184102470 184102470 C T rs150401834 CHRD Nonsynonymous SNV A529V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 324236 chr11 85438176 85438176 A T rs752442766 SYTL2 Nonsynonymous SNV I742N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.353 324237 chr3 107778346 107778346 G A rs373991479 CD47 Nonsynonymous SNV T215I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.651 324238 chr11 85438403 85438403 A C rs774993978 SYTL2 Nonsynonymous SNV N666K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 324239 chr12 26748422 26748422 C T ITPR2 Synonymous SNV E1452E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.46 324240 chr3 111997693 111997693 G A rs202221594 SLC9C1 Synonymous SNV Y67Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.217 324241 chr11 95826554 95826554 G A rs201529416 MAML2 Nonsynonymous SNV A214V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 324242 chr3 193856019 193856019 C A HES1 Nonsynonymous SNV N280K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 324243 chr3 11606296 11606296 G A VGLL4 Nonsynonymous SNV T71I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 324244 chr3 11643369 11643369 G T rs367900736 VGLL4 Nonsynonymous SNV D70E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 324245 chr11 108198379 108198379 C T rs786202730 ATM Nonsynonymous SNV P2328L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 22.4 324246 chr3 195505699 195505699 G T rs199497023 MUC4 Nonsynonymous SNV T4251K 0 0 0 1 0 0 0.003 0 0 0 0 0 14.61 324247 chr12 49431713 49431713 C T KMT2D Synonymous SNV E3142E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.243 324248 chr3 30713659 30713659 C T rs193922666 TGFBR2 Synonymous SNV H328H 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 9.75 324249 chr3 123457867 123457867 G T rs199517273 MYLK Synonymous SNV I155I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.58 324250 chr12 49994112 49994112 T A FAM186B Nonsynonymous SNV L437F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.005 324251 chr12 50745549 50745549 A G rs191643310 FAM186A Nonsynonymous SNV V1689A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 324252 chr3 11301651 11301651 A G rs781496844 HRH1 Nonsynonymous SNV M310V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 324253 chr12 32134338 32134338 C T rs200000500 RESF1 Nonsynonymous SNV P150L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.901 324254 chr12 112578920 112578920 A G TRAFD1 Nonsynonymous SNV M179V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.284 324255 chr3 38169347 38169347 C G ACAA1 Nonsynonymous SNV E153Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 324256 chr12 113590684 113590684 T A rs116586136 CFAP73 Nonsynonymous SNV F87I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 324257 chr12 113599081 113599081 C T rs116150151 DDX54 Nonsynonymous SNV G803S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 324258 chr12 117484381 117484381 C T rs116635547 TESC Nonsynonymous SNV V141M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.9 324259 chr3 41267307 41267307 G A rs370662884 CTNNB1 Synonymous SNV T297T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.5 324260 chr3 42727297 42727297 C T rs995719770 KLHL40 Synonymous SNV L63L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 5.405 324261 chr3 42906521 42906521 C G rs532560090 ACKR2 Nonsynonymous SNV S176C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 324262 chr12 53645778 53645778 C G rs77048391 MFSD5 Nonsynonymous SNV P88A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.247 324263 chr3 133558424 133558424 G A rs747796727 RAB6B Synonymous SNV D109D 0.002 0 0 0 2 0 0 0 0 0 0 0 8.143 324264 chr12 46754913 46754913 G T SLC38A2 Nonsynonymous SNV A401E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.058 324265 chr12 53881167 53881167 G A rs61736610 MAP3K12 Synonymous SNV C3C 0.001 0 0 0 1 0 0 0 0 0 0 0 6.852 324266 chr12 54109645 54109645 C T rs772519584 CALCOCO1 Nonsynonymous SNV G313S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 324267 chr12 49169807 49169807 G A rs114120444 ADCY6 Nonsynonymous SNV P582L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324268 chr12 55641893 55641893 G T rs146166839 OR6C74 Synonymous SNV L274L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.249 324269 chr12 12814768 12814768 G T GPR19 Nonsynonymous SNV N205K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.067 324270 chr12 129100780 129100780 C T rs201640276 TMEM132C Nonsynonymous SNV T402M 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 324271 chr12 56493966 56493966 C T ERBB3 Synonymous SNV S1046S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 324272 chr12 56620158 56620158 C T NABP2 Nonsynonymous SNV P131S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.308 324273 chr12 50745942 50745942 G T rs35116763 FAM186A Nonsynonymous SNV P1558Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.531 324274 chr12 50745948 50745948 A G rs34000017 FAM186A Nonsynonymous SNV I1556T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 324275 chr12 57593059 57593059 C T rs199927852 LRP1 Synonymous SNV T3247T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 324276 chr12 51319036 51319036 T C rs201848941 METTL7A Nonsynonymous SNV L72P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 324277 chr3 152554404 152554404 T G rs762563403 P2RY1 Nonsynonymous SNV V278G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 324278 chr12 59274469 59274469 G A LRIG3 Synonymous SNV I505I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.222 324279 chr3 57902766 57902766 A T rs143689400 SLMAP Nonsynonymous SNV S209C 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 23.9 324280 chr3 52366398 52366398 G A rs200951874 DNAH1 Nonsynonymous SNV R425H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 19.92 324281 chr3 52412649 52412649 G C rs745674705 DNAH1 Nonsynonymous SNV E2410D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.563 324282 chr12 52994917 52994917 A C KRT72 Nonsynonymous SNV L107R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 324283 chr3 140401687 140401687 G C rs113673861 TRIM42 Nonsynonymous SNV R242P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 324284 chr3 140401921 140401921 G A TRIM42 Nonsynonymous SNV G320D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 324285 chr3 142238542 142238542 G A rs148064542 ATR Nonsynonymous SNV R1387W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.8 324286 chr3 52812958 52812958 T C rs771637580 ITIH1 Synonymous SNV V102V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.225 324287 chr12 9006840 9006840 G A A2ML1 Nonsynonymous SNV V412I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 26.6 324288 chr12 40629436 40629436 T C rs33995463 LRRK2 Nonsynonymous SNV L119P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 27.5 324289 chr12 91347415 91347415 C T rs904714602 CCER1 Nonsynonymous SNV V369I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.222 324290 chr3 7340378 7340378 C T rs772397561 GRM7 Synonymous SNV L248L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.94 324291 chr12 57112725 57112725 C T rs761769266 NACA Synonymous SNV G863G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.18 324292 chr12 57569723 57569723 C T rs993352961 LRP1 Synonymous SNV N1275N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 324293 chr3 9798776 9798776 G A OGG1 Nonsynonymous SNV R216H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.199 324294 chr12 57975281 57975281 A G rs150672943 KIF5A Nonsynonymous SNV T858A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.15 324295 chr12 51404508 51404508 C A rs762762552 SLC11A2 Nonsynonymous SNV V2L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 324296 chr4 113540075 113540075 C T rs201425741 ZGRF1 Nonsynonymous SNV V375I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.62 324297 chr12 52756073 52756073 G A rs140619274 KRT85 Synonymous SNV I208I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.77 324298 chr12 118298147 118298147 G A KSR2 Synonymous SNV P90P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.308 324299 chr4 135121107 135121107 G A rs768418129 PABPC4L Synonymous SNV I356I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.723 324300 chr12 53714359 53714359 T C AAAS Nonsynonymous SNV I81V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 324301 chr12 54960852 54960852 G A rs200096201 PDE1B Nonsynonymous SNV V50I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 324302 chr3 194117455 194117455 A G rs61656396 GP5 Synonymous SNV S519S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.464 324303 chr12 124330519 124330519 A G rs185103772 DNAH10 Nonsynonymous SNV I1760V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.419 324304 chr12 56992995 56992995 G A rs375310491 BAZ2A Nonsynonymous SNV R1774W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 324305 chr4 129869725 129869725 C T rs200227115 SCLT1 Nonsynonymous SNV E407K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.35 324306 chr12 57873511 57873511 A T rs753646948 ARHGAP9 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 324307 chr12 132837686 132837686 G A rs781900961 GALNT9 Synonymous SNV D203D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.272 324308 chr12 64521379 64521379 G A rs115564701 SRGAP1 Synonymous SNV T782T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.502 324309 chr4 153573865 153573865 G A rs780243445 TMEM154 Synonymous SNV S93S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.723 324310 chr3 38936309 38936309 A G SCN11A Synonymous SNV L850L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.397 324311 chr4 164394816 164394816 C T TKTL2 Nonsynonymous SNV R24Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 324312 chr4 1746545 1746545 - CAGTGGAGCAGAAGGTGGGTG TACC3 K817_T818insVGAVEQK 0 0 0 1 0 0 0.003 0 0 0 0 0 324313 chr3 42916879 42916879 G A rs79095506 CYP8B1 Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.144 324314 chr4 177713372 177713372 - GGC VEGFC A31_F32insA 0 0 0 1 0 0 0.003 0 0 0 0 0 324315 chr12 95905681 95905681 C T rs1016563523 METAP2 Synonymous SNV I302I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 324316 chr4 186598181 186598181 T C rs745385367 SORBS2 Synonymous SNV A154A 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 324317 chr3 46414730 46414730 T C rs766967187 CCR5 Nonsynonymous SNV F113L 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 324318 chr3 46713381 46713381 G A rs201782392 ALS2CL Nonsynonymous SNV R893C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.3 324319 chr3 47446152 47446152 G A rs374121377 PTPN23 Nonsynonymous SNV R57H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 324320 chr3 73111424 73111424 A G EBLN2 Synonymous SNV A64A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.767 324321 chr13 100809544 100809544 C T PCCA Nonsynonymous SNV H114Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 324322 chr3 51972196 51972196 C G RRP9 Nonsynonymous SNV E65D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 324323 chr13 20717074 20717074 C T rs765516212 GJA3 Synonymous SNV E118E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.201 324324 chr4 40351106 40351106 C T rs202096658 CHRNA9 Synonymous SNV S191S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.06 324325 chr4 48572888 48572888 T C rs1054712843 FRYL Synonymous SNV V984V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.681 324326 chr13 33349161 33349161 C T rs200436799 PDS5B Nonsynonymous SNV R1439W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 324327 chr13 80117760 80117760 G A NDFIP2 Synonymous SNV R241R 0 0 0 1 0 0 0.003 0 0 0 0 0 14.62 324328 chr4 57182457 57182457 C T CRACD Nonsynonymous SNV P930L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 324329 chr3 63982010 63982010 A C rs750782005 ATXN7 Nonsynonymous SNV K693Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 324330 chr13 47127587 47127587 C T rs897398913 LRCH1 Nonsynonymous SNV T19I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.95 324331 chr4 6279203 6279203 G A rs372928810 WFS1 Synonymous SNV P7P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.893 324332 chr12 120031663 120031663 T C rs1032889199 TMEM233 Nonsynonymous SNV Y4H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 15.69 324333 chr12 120135478 120135478 C T rs35431237 CIT Synonymous SNV P1914P 0.002 0.003 0 0 2 1 0 0 0 0 0 0 Benign 19.73 324334 chr12 120575407 120575407 T C rs61742548 GCN1 Nonsynonymous SNV N2202S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.89 324335 chr12 120597730 120597730 G C rs146468941 GCN1 Nonsynonymous SNV S883C 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.7 324336 chr12 120662077 120662077 T C rs141848390 PXN Synonymous SNV T39T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 Benign 8.422 324337 chr4 144435238 144435238 C T rs200653868 SMARCA5 Nonsynonymous SNV A54V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.734 324338 chr14 23450498 23450498 C T rs758690624 AJUBA Synonymous SNV R326R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.42 324339 chr4 15005321 15005321 C A CPEB2 Nonsynonymous SNV L342M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 324340 chr4 77818698 77818698 G C SOWAHB Nonsynonymous SNV A102G 0 0 0 1 0 0 0.003 0 0 0 0 0 14.09 324341 chr12 123463524 123463524 A G rs553517033 OGFOD2 Synonymous SNV T88T 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.02 324342 chr4 79792137 79792142 CAGCAG - rs763960588 BMP2K Q485_Q486del 0 0 0 1 0 0 0.003 0 0 0 0 0 324343 chr14 105223073 105223073 C T rs142780435 SIVA1 Nonsynonymous SNV A84V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 324344 chr14 35777201 35777201 A G rs140882372 PSMA6 Synonymous SNV E7E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.62 324345 chr14 20612557 20612557 C G OR4N5 Nonsynonymous SNV I221M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 324346 chr14 24649946 24649946 C T rs114924943 IPO4 Nonsynonymous SNV E1022K 0 0 0 1 0 0 0.003 0 0 0 0 0 19.5 324347 chr5 102530609 102530609 G A rs782673264 PPIP5K2 Nonsynonymous SNV A1049T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.88 324348 chr4 187542284 187542284 T C FAT1 Nonsynonymous SNV Y1819C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 324349 chr5 112176930 112176930 A C rs1064796571 APC Nonsynonymous SNV E1862A 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.99 324350 chr4 159158774 159158774 T G TMEM144 Nonsynonymous SNV Y221D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 324351 chr14 39772682 39772682 A C MIA2 Nonsynonymous SNV D226A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.81 324352 chr5 118503351 118503351 C G rs150598701 DMXL1 Synonymous SNV L1730L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.44 324353 chr14 64701823 64701823 C T rs773306825 ESR2 Nonsynonymous SNV R333Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 324354 chr14 38679533 38679533 T C rs72681148 SSTR1 Synonymous SNV Y313Y 0 0 0.007 0 0 0 0 2 0 0 0 0 0.085 324355 chr5 14290842 14290842 A G rs141383076 TRIO Synonymous SNV L186L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 2.877 324356 chr14 71275853 71275853 C T MAP3K9 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.87 324357 chr14 74562688 74562688 T C rs200930577 LIN52 Synonymous SNV S44S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 324358 chr14 64484337 64484337 T C rs146801942 SYNE2 Nonsynonymous SNV Y1638H 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.34 324359 chr14 77751891 77751891 G A rs368817785 POMT2 Stop gain R473X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 40 324360 chr4 187628394 187628394 G C FAT1 Nonsynonymous SNV T863R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 324361 chr4 2274995 2274995 G A rs150242683 ZFYVE28 Nonsynonymous SNV T713M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324362 chr14 64692207 64692207 C T rs936362952 SYNE2 Nonsynonymous SNV P418L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 324363 chr14 93151490 93151490 G A rs202129320 RIN3 Nonsynonymous SNV V801I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 324364 chr5 146080610 146080610 C T PPP2R2B Nonsynonymous SNV E59K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 324365 chr14 74179343 74179343 T C rs141898620 PNMA1 Nonsynonymous SNV K334E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 324366 chr14 93649923 93649923 T C rs199543045 MOAP1 Nonsynonymous SNV K222R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.407 324367 chr14 93684884 93684884 T C rs200300034 UBR7 Nonsynonymous SNV S205P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.527 324368 chr14 75513448 75513448 C G MLH3 Nonsynonymous SNV V971L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 324369 chr14 94936037 94936037 G C SERPINA9 Synonymous SNV L47L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.232 324370 chr14 77318751 77318751 C T rs199887887 LRRC74A Synonymous SNV N257N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.456 324371 chr4 40356463 40356463 G T CHRNA9 Nonsynonymous SNV D456Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324372 chr14 77493765 77493770 TGCTGC - IRF2BPL Q126_Q127del 0.001 0 0 0 1 0 0 0 0 0 0 0 324373 chr14 93399069 93399069 C T rs9658668 CHGA Nonsynonymous SNV P237L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.41 324374 chr5 159520189 159520189 G A PWWP2A Synonymous SNV L490L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.413 324375 chr5 159520191 159520191 G A PWWP2A Nonsynonymous SNV S489F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 324376 chr5 16091057 16091057 T G rs538760793 MARCHF11 Nonsynonymous SNV K276T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 324377 chr15 25440139 25440139 G A rs574481458 SNORD115-14 0 0 0.003 0 0 0 0 1 0 0 0 0 3.39 324378 chr15 25468261 25468261 A G rs572164340 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.105 324379 chr5 35692726 35692726 C A rs752061108 SPEF2 Nonsynonymous SNV A600E 0 0.003 0 0 0 1 0 0 0 0 0 0 34 324380 chr14 24517951 24517951 G T DHRS4L1 Nonsynonymous SNV E71D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.166 324381 chr15 34546749 34546749 G A rs201041861 SLC12A6 Synonymous SNV D291D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.514 324382 chr15 40564445 40564445 G A rs138523206 BUB1B-PAK6, PAK6 Synonymous SNV P293P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 324383 chr15 34549866 34549866 T C rs202034087 SLC12A6 Nonsynonymous SNV I208V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.87 324384 chr15 42158571 42158571 G C rs766729305 SPTBN5 Nonsynonymous SNV H2201D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 324385 chr14 44975971 44975971 G A rs62013252 FSCB Stop gain Q74X 0 0.003 0 0 0 1 0 0 0 0 0 0 35 324386 chr14 45665388 45665388 T A FANCM Stop gain L1759X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 324387 chr15 40661156 40661156 C G rs200360572 DISP2 Nonsynonymous SNV T948S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 324388 chr15 43494173 43494173 C T rs551989402 EPB42 Nonsynonymous SNV M624I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 324389 chr5 39202653 39202653 G A rs201568060 FYB1 Nonsynonymous SNV P147L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.799 324390 chr15 51766576 51766576 A G DMXL2 Nonsynonymous SNV V1756A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 324391 chr5 132083511 132083511 C G CCNI2 Synonymous SNV R108R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.918 324392 chr5 45645563 45645563 G T rs771244051 HCN1 Synonymous SNV I191I 0 0 0 1 0 0 0.003 0 0 0 0 0 6.677 324393 chr15 45404869 45404869 A G rs756135332 DUOX2 Nonsynonymous SNV Y70H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 324394 chr5 107717003 107717003 - GCG rs766817906 FBXL17 A132_S133insA 0.001 0 0 0 1 0 0 0 0 0 0 0 324395 chr15 42618514 42618514 C - rs769724326 GANC H439Tfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 324396 chr15 50534935 50534935 G A rs750738762 HDC Nonsynonymous SNV T471M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 324397 chr15 51290007 51290007 G C rs755567952 AP4E1 Nonsynonymous SNV W869S 0.001 0 0 0 1 0 0 0 0 0 0 0 25 324398 chr15 63084979 63084979 C T rs140861754 TLN2 Nonsynonymous SNV T1959M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23.1 324399 chr15 67457622 67457622 A G rs763712900 SMAD3 Synonymous SNV T39T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.505 324400 chr5 126993436 126993436 C A CTXN3 Nonsynonymous SNV Q75K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 324401 chr15 62456393 62456393 C T C2CD4B Nonsynonymous SNV R264H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324402 chr15 70959406 70959406 G A rs376705053 UACA Nonsynonymous SNV S1193L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 324403 chr15 54306885 54306885 G C UNC13C Synonymous SNV A595A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 324404 chr15 65772622 65772622 A G rs369230835 DPP8 Nonsynonymous SNV S412P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 324405 chr15 67528399 67528399 G A AAGAB Synonymous SNV N14N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.674 324406 chr14 75378517 75378517 C T rs199987278 RPS6KL1 Nonsynonymous SNV G140R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 324407 chr15 72582308 72582308 C T rs776776022 CELF6 Nonsynonymous SNV R77Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 324408 chr6 10751413 10751413 G A rs146152247 TMEM14B Nonsynonymous SNV G39S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 324409 chr15 83718875 83718875 T C rs116738920 BTBD1 Nonsynonymous SNV K205R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 324410 chr5 140174806 140174806 T C rs200649333 PCDHA2 Nonsynonymous SNV V86A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 324411 chr5 140183089 140183089 C T rs201201783 PCDHA3 Synonymous SNV L769L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.06 324412 chr15 77021066 77021066 C T rs777783582 SCAPER Nonsynonymous SNV A433T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324413 chr15 77320955 77320955 C A PSTPIP1 Nonsynonymous SNV R160S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324414 chr5 94353111 94353111 T C rs140643121 MCTP1 Synonymous SNV T45T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 9.906 324415 chr14 88935895 88935895 T C rs143037645 PTPN21 Synonymous SNV Q1061Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.012 324416 chr15 90775493 90775493 T C rs780340928 CIB1 Synonymous SNV A91A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.934 324417 chr15 78346443 78346443 C T TBC1D2B Synonymous SNV K149K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.37 324418 chr6 109772818 109772818 C G MICAL1 Synonymous SNV L306L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 324419 chr5 159520013 159520013 A C rs374725441 PWWP2A Nonsynonymous SNV D548E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.294 324420 chr6 10586429 10586429 G C GCNT2 Nonsynonymous SNV L69F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.826 324421 chr5 149283232 149283232 C T rs774836540 PDE6A Synonymous SNV A364A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.96 324422 chr16 15694330 15694330 C T rs374362007 MARF1 Nonsynonymous SNV E1590K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 324423 chr15 93492231 93492231 A G rs775806935 CHD2 Nonsynonymous SNV Y476C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 324424 chr6 1391292 1391292 C T FOXF2 Synonymous SNV S370S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.66 324425 chr6 142491510 142491510 A C rs749410880 VTA1 Synonymous SNV A63A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.516 324426 chr15 89450443 89450443 C T rs773168658 MFGE8 Nonsynonymous SNV D80N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.31 324427 chr5 167653110 167653110 G A rs770099600 TENM2 Nonsynonymous SNV R1470H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 324428 chr6 159682245 159682245 A G rs759498033 FNDC1 Nonsynonymous SNV Q1733R 0 0.003 0 0 0 1 0 0 0 0 0 0 21 324429 chr15 93496760 93496760 T G CHD2 Nonsynonymous SNV I559S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 324430 chr6 16327918 16327918 - TGCTGCTGC ATXN1 Q208_H209insQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 324431 chr5 177548241 177548241 G A N4BP3 Nonsynonymous SNV R332H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324432 chr5 179192327 179192327 C T rs907300008 MAML1 Nonsynonymous SNV H106Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 324433 chr6 158505141 158505141 C T rs61743922 SYNJ2 Nonsynonymous SNV T811I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.33 324434 chr16 31288050 31288050 C T rs760185560 ITGAM Synonymous SNV S356S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.7 324435 chr16 31734007 31734007 G A ZNF720 Nonsynonymous SNV D22N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.21 324436 chr16 2218116 2218116 C T TRAF7 Nonsynonymous SNV P60S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 324437 chr16 4164460 4164460 G A ADCY9 Synonymous SNV A328A 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.241 324438 chr16 2816631 2816631 G A rs141536792 SRRM2 Synonymous SNV T2034T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 324439 chr6 159420780 159420780 C T rs199715125 RSPH3 Nonsynonymous SNV G77R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.004 324440 chr16 449043 449043 G A rs767862737 NME4 Nonsynonymous SNV V49M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 324441 chr6 160461747 160461747 C T rs766649241 IGF2R Nonsynonymous SNV R491C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324442 chr16 48125092 48125092 C G rs200003763 ABCC12 Nonsynonymous SNV R1075P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 324443 chr16 3795351 3795351 C T rs201874248 CREBBP Nonsynonymous SNV V1243I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.6 324444 chr16 4242244 4242244 A G rs375957548 SRL Synonymous SNV G444G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 324445 chr16 4664751 4664751 C T rs139085731 UBALD1 Synonymous SNV Q16Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 13.06 324446 chr16 56710113 56710113 T C rs759244174 MT1IP 0 0 0.003 0 0 0 0 1 0 0 0 0 6.472 324447 chr16 58073967 58073967 C G rs774025590 MMP15 Nonsynonymous SNV S210W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 324448 chr5 60786721 60786721 A C ZSWIM6 Nonsynonymous SNV Y381S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 324449 chr16 596900 596900 G A rs779596068 CAPN15 Nonsynonymous SNV R21H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 324450 chr16 597082 597082 G C rs201488864 CAPN15 Nonsynonymous SNV V82L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 324451 chr16 14015940 14015940 G A rs371487368 ERCC4 Nonsynonymous SNV R87H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.7 324452 chr16 67694044 67694044 C T rs142507451 ACD Nonsynonymous SNV R27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.17 324453 chr16 19481129 19481129 T A rs145413285 TMC5 Nonsynonymous SNV N342K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 324454 chr16 68002495 68002495 - CCCGCCGCTGTC rs774280757 SLC12A4 G21_G22insTAAG 0 0 0.003 0 0 0 0 1 0 0 0 0 324455 chr5 76700601 76700601 A G rs61999348 PDE8B Nonsynonymous SNV I326V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.704 324456 chr16 27448865 27448865 C T rs780430063 IL21R Nonsynonymous SNV S70L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 324457 chr16 28493483 28493483 G A CLN3 Synonymous SNV S233S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.905 324458 chr16 78458796 78458796 C T rs202006159 WWOX Nonsynonymous SNV A99V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.9 324459 chr5 81600485 81600485 A G rs953870071 ATP6AP1L Nonsynonymous SNV N67D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.353 324460 chr16 55532256 55532256 A G MMP2 Synonymous SNV P505P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.409 324461 chr16 86544949 86544949 G A rs776880946 FOXF1 Synonymous SNV E258E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.155 324462 chr6 43643296 43643296 A T rs148462467 MRPS18A Nonsynonymous SNV I104N 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 324463 chr16 30749661 30749661 G A rs781443255 SRCAP Nonsynonymous SNV R2767Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 324464 chr6 107391492 107391492 C T rs782378348 BEND3 Synonymous SNV S301S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 324465 chr16 58550392 58550392 G C rs749612539 SETD6 Nonsynonymous SNV E163Q 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 324466 chr6 44271062 44271062 C T rs781139446 AARS2 Synonymous SNV A702A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.36 324467 chr16 68721436 68721436 C T rs376645345 CDH3 Nonsynonymous SNV T476M 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324468 chr16 48121900 48121900 T G rs16945787 ABCC12 Nonsynonymous SNV E1191A 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 16.6 324469 chr16 48395569 48395569 T C rs775586904 SIAH1 Synonymous SNV L288L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.037 324470 chr16 70697773 70697773 C T rs371808193 MTSS2 Nonsynonymous SNV G684D 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 324471 chr16 90097861 90097861 G A rs884928 GAS8 Nonsynonymous SNV R57Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 33 324472 chr6 56481816 56481816 T C rs755587547 DST Nonsynonymous SNV K2150R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.34 324473 chr17 10411752 10411752 C T rs759021922 MYH1 Nonsynonymous SNV V609M 0 0 0.003 0 0 0 0 1 0 0 0 0 25 324474 chr17 11833331 11833331 A C rs748448396 DNAH9 Nonsynonymous SNV E321A 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 324475 chr6 132938349 132938349 A G rs73775145 TAAR2 Synonymous SNV G287G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 324476 chr6 7373674 7373674 T C CAGE1 Nonsynonymous SNV K324E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 324477 chr6 132938956 132938956 G A rs61731216 TAAR2 Nonsynonymous SNV S85F 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 324478 chr6 132939217 132939217 C T rs73775147 TAAR2 Nonsynonymous SNV R43Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.414 324479 chr6 133111349 133111349 G A rs35004921 SLC18B1 Synonymous SNV F82F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.11 324480 chr6 7585240 7585240 T G rs751712837 DSP Nonsynonymous SNV F1983C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.4 324481 chr6 84302211 84302211 T C rs374662830 SNAP91 Synonymous SNV A512A 0 0 0 1 0 0 0.003 0 0 0 0 0 4.256 324482 chr16 87637751 87637751 C A JPH3 Nonsynonymous SNV P147T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 324483 chr17 27893545 27893545 C T rs141385558 ABHD15 Nonsynonymous SNV G147D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.414 324484 chr17 30179900 30179900 C T rs749000634 COPRS Nonsynonymous SNV E94K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 324485 chr6 17652101 17652101 G C rs887830740 NUP153 Nonsynonymous SNV I484M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.373 324486 chr16 89857881 89857881 G A rs772567344 FANCA Nonsynonymous SNV A430V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 324487 chr16 89920929 89920929 G A SPIRE2 Nonsynonymous SNV R254H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324488 chr17 32963173 32963173 C G rs141863942 TMEM132E Nonsynonymous SNV L709V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.971 324489 chr16 90109781 90109781 A G URAHP 0.001 0 0 0 1 0 0 0 0 0 0 0 1.407 324490 chr7 107302221 107302221 G T rs756029600 SLC26A4 Synonymous SNV T45T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 16.97 324491 chr17 33446601 33446601 C T RAD51D Nonsynonymous SNV G11D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 324492 chr17 34341422 34341422 C T rs771329185 CCL23 Nonsynonymous SNV E30K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.051 324493 chr17 37373138 37373138 G A rs368038617 STAC2 Nonsynonymous SNV R29C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 324494 chr17 38172012 38172012 A T rs962946209 CSF3 Nonsynonymous SNV S37C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 324495 chr17 38905567 38905567 A C rs763895579 KRT25 Nonsynonymous SNV S396A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 324496 chr7 100684234 100684234 T A rs181566051 MUC17 Synonymous SNV S3179S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.514 324497 chr16 89761353 89761353 G C rs751880892 CDK10 Synonymous SNV L198L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.478 324498 chr7 107414437 107414437 G A rs748000444 SLC26A3 Synonymous SNV S645S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.1 324499 chr16 22330188 22330188 C A rs200549196 POLR3E Nonsynonymous SNV P267T 0 0.003 0 0 0 1 0 0 0 0 0 0 12.97 324500 chr7 123595122 123595122 C T SPAM1 Synonymous SNV L342L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.768 324501 chr17 7160345 7160345 C T rs146827482 ELP5 Synonymous SNV R209R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.05 324502 chr17 7592361 7592361 C A rs201340741 WRAP53 Nonsynonymous SNV T132N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.029 324503 chr6 44272394 44272394 C G AARS2 Synonymous SNV R580R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.4 324504 chr7 138720525 138720525 C G ZC3HAV1L Nonsynonymous SNV W80S 0 0 0 1 0 0 0.003 0 0 0 0 0 17 324505 chr17 48432213 48432213 A G XYLT2 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 324506 chr17 48432926 48432926 G A XYLT2 Nonsynonymous SNV G358S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 324507 chr17 5359388 5359388 T A rs151275648 DHX33 Nonsynonymous SNV M149L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 324508 chr16 57954397 57954397 G A rs757874189 CNGB1 Synonymous SNV N559N 0 0.003 0 0 0 1 0 0 0 0 0 0 10.36 324509 chr7 150440005 150440005 C T rs747265690 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV L260L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.229 324510 chr7 150644461 150644461 C T rs199473022 KCNH2 Nonsynonymous SNV G696D 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25 324511 chr17 61908182 61908182 A T rs756629902 PSMC5 Nonsynonymous SNV Y181F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 324512 chr17 21092040 21092040 C T rs376241779 DHRS7B Synonymous SNV H197H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 324513 chr7 155596303 155596303 G A SHH Nonsynonymous SNV A227V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.62 324514 chr6 87994209 87994213 AAAAC - rs373942790 GJB7 V140Ifs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 324515 chr7 156971478 156971478 T C rs138630916 UBE3C Synonymous SNV L185L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.672 324516 chr7 156994489 156994489 G A rs145837581 UBE3C Nonsynonymous SNV R469Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 324517 chr6 88251642 88251642 G A rs75794097 RARS2 Synonymous SNV L27L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.68 324518 chr6 88315689 88315689 A G rs2307371 ORC3 Nonsynonymous SNV Q126R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.22 324519 chr7 16818670 16818670 A C rs778168369 TSPAN13 Nonsynonymous SNV I157L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.85 324520 chr6 7569487 7569487 G A rs35820473 DSP Synonymous SNV T496T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 14.31 324521 chr17 29631345 29631345 A G rs201634622 EVI2B Nonsynonymous SNV I428T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.89 324522 chr17 32953993 32953993 C T rs140315218 TMEM132E Synonymous SNV P305P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.21 324523 chr6 99850520 99850520 G T PNISR Nonsynonymous SNV S390Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 324524 chr17 76491996 76491996 C G rs761207592 DNAH17 Nonsynonymous SNV G1955A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 324525 chr17 39406296 39406296 C G rs745885577 KRTAP9-4 Synonymous SNV P108P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.828 324526 chr17 76498959 76498959 G T rs374833832 DNAH17-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.872 324527 chr7 47933583 47933583 C G PKD1L1 Nonsynonymous SNV S782T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 324528 chr17 34077167 34077167 G A GAS2L2 Nonsynonymous SNV P186S 0 0 0 1 0 0 0.003 0 0 0 0 0 24 324529 chr17 34202620 34202620 T G CCL5 Nonsynonymous SNV E72A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.518 324530 chr7 100680822 100680822 G A rs373744994 MUC17 Nonsynonymous SNV R2042Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.028 324531 chr17 39723837 39723837 G A rs116616468 KRT9 Synonymous SNV Y520Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.655 324532 chr17 40821559 40821559 C T rs534250997 PLEKHH3 Synonymous SNV T698T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.73 324533 chr17 41926149 41926149 G C CD300LG Synonymous SNV S89S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.337 324534 chr17 79220755 79220755 C T rs757772879 SLC38A10 Synonymous SNV A724A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.94 324535 chr7 107615768 107615768 C G LAMB1 Nonsynonymous SNV R427P 0.001 0 0 0 1 0 0 0 0 0 0 0 35 324536 chr17 39535917 39535917 C T rs201451902 KRT34 Nonsynonymous SNV V261M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 324537 chr17 46868865 46868865 C G TTLL6 Nonsynonymous SNV A60P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 324538 chr7 75896747 75896747 G T rs782486761 SRRM3 Synonymous SNV P334P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 324539 chr17 40717257 40717257 A G COASY Nonsynonymous SNV I439V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.26 324540 chr18 21107799 21107799 C G rs141781475 RMC1 Synonymous SNV A253A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.52 324541 chr7 83739879 83739879 T C SEMA3A Synonymous SNV V120V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 324542 chr18 21427494 21427494 T G LAMA3 Nonsynonymous SNV V1333G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 324543 chr17 55184130 55184130 C T rs139433676 AKAP1 Synonymous SNV Y435Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.54 324544 chr17 56385086 56385086 C G rs141226909 TSPOAP1 Nonsynonymous SNV Q1563H 0.001 0 0 0 1 0 0 0 0 0 0 0 19.46 324545 chr7 133932342 133932342 C T rs200874637 LRGUK Nonsynonymous SNV A673V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 324546 chr17 56403014 56403014 G A rs199604022 TSPOAP1 Nonsynonymous SNV R211C 0.003 0.003 0 0 3 1 0 0 0 0 0 0 25.5 324547 chr18 31326121 31326121 T C rs762065126 ASXL3 Synonymous SNV Y2103Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 324548 chr17 61611540 61611540 T C KCNH6 Synonymous SNV Y323Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 324549 chr17 43332940 43332940 G A rs758270742 SPATA32 Synonymous SNV S203S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.687 324550 chr17 45730191 45730191 G A rs1007092057 KPNB1 Synonymous SNV Q77Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 324551 chr18 3879648 3879648 G A rs141559337 DLGAP1 Synonymous SNV L141L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.61 324552 chr8 108509725 108509725 T G ANGPT1 Nonsynonymous SNV N21T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.509 324553 chr7 143807112 143807112 C G rs61735905 OR2A2 Nonsynonymous SNV T146R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 324554 chr8 110980731 110980731 T A rs764221147 KCNV1 Synonymous SNV V363V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.176 324555 chr18 54424383 54424383 G T WDR7 Nonsynonymous SNV Q853H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.286 324556 chr8 11614563 11614563 C T rs913225830 GATA4 Nonsynonymous SNV H374Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.491 324557 chr7 150771255 150771255 T C SLC4A2 Nonsynonymous SNV S880P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.59 324558 chr18 67715350 67715350 C T rs200628968 RTTN Nonsynonymous SNV V888I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 324559 chr18 72173241 72173241 G A CNDP2 Nonsynonymous SNV R121Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 324560 chr7 16685144 16685144 C T ANKMY2 Nonsynonymous SNV V19I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 324561 chr17 71281907 71281907 C T rs377464814 CDC42EP4 Nonsynonymous SNV A245T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.054 324562 chr8 144462934 144462934 C T rs367953129 RHPN1 Synonymous SNV A464A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 324563 chr17 72769070 72769072 TCT - NAT9 E68del 0 0 0 1 0 0 0.003 0 0 0 0 0 324564 chr17 73242652 73242652 C T rs747091327 GGA3 Nonsynonymous SNV V47I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 324565 chr19 12786954 12786954 C G DHPS Synonymous SNV R255R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.262 324566 chr19 12876750 12876750 C T rs199541078 HOOK2 Synonymous SNV K530K 0 0 0.007 0 0 0 0 2 0 0 0 0 15.62 324567 chr8 21953941 21953941 C T rs1035294558 FAM160B2 Nonsynonymous SNV A73V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.469 324568 chr8 21986500 21986500 G T rs137929972 HR Nonsynonymous SNV P62T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 9.778 324569 chr8 145664096 145664096 G A rs778168189 TONSL Synonymous SNV T501T 0 0 0 1 0 0 0.003 0 0 0 0 0 4.272 324570 chr18 10471794 10471794 A G rs370392635 APCDD1 Synonymous SNV T170T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 324571 chr8 23560521 23560521 C G NKX2-6 Nonsynonymous SNV D117H 0 0.003 0 0 0 1 0 0 0 0 0 0 9.329 324572 chr8 15517051 15517051 T C TUSC3 Synonymous SNV F154F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.711 324573 chr18 21508705 21508705 C T LAMA3 Synonymous SNV G1139G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.02 324574 chr18 23807176 23807176 A G rs756317230 TAF4B Nonsynonymous SNV I93M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.768 324575 chr18 28916466 28916466 T C rs768303232 DSG1 Synonymous SNV F385F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.727 324576 chr18 29793413 29793413 G T rs768501084 MEP1B Nonsynonymous SNV W490C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 324577 chr19 17918785 17918785 - CCCCCCCCCC B3GNT3 Frameshift insertion A59Pfs*47 0 0 0.003 0 0 0 0 1 0 0 0 0 324578 chr8 27685706 27685706 G A rs114501644 PBK Nonsynonymous SNV S23L 0 0 0 1 0 0 0.003 0 0 0 0 0 13.07 324579 chr8 62578047 62578047 T C rs755882203 ASPH Synonymous SNV K132K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.13 324580 chr18 51889289 51889289 T - C18orf54 F228Sfs*30 0.001 0 0 0 1 0 0 0 0 0 0 0 324581 chr7 76828615 76828615 T C rs768018604 FGL2 Nonsynonymous SNV M166V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 324582 chr7 82784589 82784589 G A rs372968778 PCLO Synonymous SNV P456P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.483 324583 chr18 61471597 61471597 T A rs761597722 SERPINB7 Nonsynonymous SNV L274M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 324584 chr18 66504082 66504082 G A rs369503833 CCDC102B Nonsynonymous SNV D28N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 324585 chr8 62556507 62556507 G T rs762456223 ASPH Nonsynonymous SNV P193T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.344 324586 chr18 72229308 72229308 G A rs146707393 CNDP1 Nonsynonymous SNV D165N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 324587 chr19 36001142 36001142 C T rs754138623 DMKN Nonsynonymous SNV G24S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 324588 chr17 49074055 49074055 T C SPAG9 Synonymous SNV E456E 0 0.003 0 0 0 1 0 0 0 0 0 0 12.98 324589 chr8 70476294 70476294 G A rs949304357 SULF1 Synonymous SNV P28P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 324590 chr7 98254421 98254421 C T rs139599961 NPTX2 Synonymous SNV N277N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.26 324591 chr19 36594067 36594067 G A WDR62 Nonsynonymous SNV A1158T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.117 324592 chr8 101146150 101146150 C T FBXO43 Synonymous SNV V669V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.01 324593 chr8 101252724 101252724 C T SPAG1 Nonsynonymous SNV P792S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 324594 chr8 101300296 101300296 C T rs570777127 RNF19A Nonsynonymous SNV R36Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 324595 chr8 98828408 98828408 - CCTCCTAATTTTCCCTACAGAGATGATGTCATGTCA LAPTM4B S148_V149insPPNFPYRDDVMS 0 0 0 1 0 0 0.003 0 0 0 0 0 324596 chr19 38682815 38682815 T C rs201920570 SIPA1L3 Synonymous SNV F1487F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.075 324597 chr19 3961464 3961464 G A rs758879090 MIR637 0 0 0.003 0 0 0 0 1 0 0 0 0 4.574 324598 chr19 39798746 39798746 C T rs770120908 LRFN1 Nonsynonymous SNV A615T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.556 324599 chr19 39898467 39898467 C T rs17878633 ZFP36 Nonsynonymous SNV P37S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.16 324600 chr9 107535303 107535303 T A NIPSNAP3B Synonymous SNV V231V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.643 324601 chr9 107535331 107535331 G A NIPSNAP3B Nonsynonymous SNV A241T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 324602 chr9 107535336 107535336 A G NIPSNAP3B Synonymous SNV S242S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.484 324603 chr9 107535346 107535346 T C NIPSNAP3B Synonymous SNV L246L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.263 324604 chr19 40521639 40521639 C T rs111274704 ZNF546 Nonsynonymous SNV T795I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 324605 chr19 40541532 40541532 C T rs112330288 ZNF780B Nonsynonymous SNV A412T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.854 324606 chr19 40719923 40719923 C G rs745906586 MAP3K10 Synonymous SNV S779S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 324607 chr8 126443478 126443478 C T rs200584467 TRIB1 Nonsynonymous SNV H112Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.203 324608 chr18 72997849 72997849 T C TSHZ1 Nonsynonymous SNV C163R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.45 324609 chr18 72997850 72997850 G C TSHZ1 Nonsynonymous SNV C163S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 324610 chr19 41307000 41307000 G A rs773586574 EGLN2 Nonsynonymous SNV E175K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 324611 chr19 42791565 42791565 C G rs769059501 CIC Nonsynonymous SNV D182E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.87 324612 chr19 44301839 44301839 C T rs771897728 LYPD5 Synonymous SNV Q177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.842 324613 chr19 5135393 5135393 A G KDM4B Nonsynonymous SNV K710R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.334 324614 chr9 123850712 123850712 A G rs748054887 CNTRL Synonymous SNV S36S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.473 324615 chr9 124080948 124080948 G C rs145170518 GSN Synonymous SNV S378S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.456 324616 chr19 44515027 44515027 C T rs199508101 ZNF230 Nonsynonymous SNV P279L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 324617 chr8 143746827 143746827 G A rs782797140 JRK Synonymous SNV T217T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 324618 chr19 6896458 6896458 C G rs767849100 ADGRE1 Synonymous SNV T48T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.988 324619 chr9 131584821 131584821 C T ENDOG Synonymous SNV L276L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.53 324620 chr9 127300479 127300479 A G rs765626012 NR6A1 Nonsynonymous SNV L235P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 324621 chr19 7810698 7810698 A G rs749671561 CD209 Nonsynonymous SNV W108R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 324622 chr8 145001916 145001916 C T PLEC Nonsynonymous SNV E1126K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 324623 chr9 128061242 128061242 G A rs760107138 GAPVD1 Synonymous SNV K14K 0 0 0 1 0 0 0.003 0 0 0 0 0 13.33 324624 chr19 8953537 8953537 G A rs61752694 MBD3L1 Synonymous SNV K61K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.302 324625 chr19 8953774 8953774 G A rs77495083 MBD3L1 Synonymous SNV S140S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.114 324626 chr17 80790322 80790322 G A ZNF750 Synonymous SNV L3L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.417 324627 chr8 1616497 1616497 G A rs376920234 DLGAP2 Nonsynonymous SNV V605I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.094 324628 chr19 47353408 47353408 T C AP2S1 Nonsynonymous SNV R12G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.687 324629 chr9 132890960 132890960 G A rs374045061 GPR107 Synonymous SNV T305T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.65 324630 chr19 48305803 48305803 G A rs192305541 TPRX1 Synonymous SNV G155G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.465 324631 chr19 9024157 9024157 G A rs373152632 MUC16 Nonsynonymous SNV P12372L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.7 324632 chr19 9047927 9047927 A G rs369431153 MUC16 Nonsynonymous SNV I11235T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.491 324633 chr19 49102602 49102602 - CACCAG rs768315899 SULT2B1 N331_S332insTS 0 0 0.003 0 0 0 0 1 0 0 0 0 324634 chr19 49102604 49102604 T C rs771470847 SULT2B1 Nonsynonymous SNV S332P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 324635 chr8 21996982 21996982 C T rs376948990 REEP4 Nonsynonymous SNV G122R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324636 chr9 138392871 138392871 G A rs138860958 MRPS2 Nonsynonymous SNV G24D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.003 324637 chr9 139257977 139257977 C A DNLZ Nonsynonymous SNV V64L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.817 324638 chr19 9269568 9269568 C T ZNF317 Nonsynonymous SNV P119L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 324639 chr19 7997585 7997585 C T rs201091980 TIMM44 Nonsynonymous SNV R305Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27 324640 chr19 9063053 9063053 C A rs73009082 MUC16 Synonymous SNV G8131G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.439 324641 chr19 9868885 9868885 C T rs946095665 ZNF846 Nonsynonymous SNV A161T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 324642 chr19 51509816 51509816 G T rs758127814 KLK9 Nonsynonymous SNV R122S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 324643 chr19 10597347 10597347 T C KEAP1 Nonsynonymous SNV Q619R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 324644 chr19 52196809 52196809 C T rs966034440 SPACA6 Synonymous SNV V10V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.458 324645 chr19 52250088 52250088 G A rs138475342 FPR1 Nonsynonymous SNV R54W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 324646 chr8 33451085 33451085 G A rs7008370 DUSP26 Synonymous SNV A134A 0.002 0 0 0 2 0 0 0 0 0 0 0 9.298 324647 chr19 52448099 52448099 T C rs751318267 ZNF613 Synonymous SNV C321C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.297 324648 chr9 16436245 16436245 G A rs62540608 BNC2 Synonymous SNV T607T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 1.234 324649 chr19 9059377 9059377 G - rs765820453 MUC16 L9357Sfs*52 0 0 0 1 0 0 0.003 0 0 0 0 0 324650 chr8 42608425 42608425 A G CHRNA6 Nonsynonymous SNV M446T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 324651 chr19 12921011 12921011 A G rs776898873 RNASEH2A Nonsynonymous SNV I180V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 324652 chr19 9075496 9075496 T C rs200178643 MUC16 Nonsynonymous SNV T3984A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 324653 chr19 13211906 13211906 G T rs777309732 LYL1 Nonsynonymous SNV A27E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 324654 chr19 13988368 13988368 G A rs775024333 NANOS3 Synonymous SNV V102V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.126 324655 chr19 54606480 54606480 C T rs17851994 NDUFA3 Synonymous SNV F23F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 324656 chr19 9325266 9325266 A G OR7D4 Nonsynonymous SNV V83A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.088 324657 chr9 35735173 35735173 G A rs191830056 CREB3 Nonsynonymous SNV R168H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324658 chr9 37592356 37592356 C T TOMM5 Synonymous SNV G58G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.309 324659 chr8 92092926 92092926 G A rs143121527 OTUD6B Nonsynonymous SNV V220I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 21.2 324660 chr9 463649 463649 A G rs145573166 DOCK8 Synonymous SNV E1967E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.79 324661 chr8 6681161 6681161 G T rs559310588 XKR5 Synonymous SNV A173A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.481 324662 chr9 72758546 72758546 A G MAMDC2 Synonymous SNV P405P 0 0 0 1 0 0 0.003 0 0 0 0 0 1.632 324663 chr9 74319594 74319594 G A rs150698902 CEMIP2 Synonymous SNV V974V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.564 324664 chr9 101802811 101802811 C T rs146647282 COL15A1 Synonymous SNV D828D 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.78 324665 chr9 79321488 79321488 T A rs780008230 PRUNE2 Nonsynonymous SNV K1901M 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 324666 chr19 57840024 57840024 G A rs751851172 ZNF543 Nonsynonymous SNV M398I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 324667 chr9 86894251 86894251 C G rs141990386 SLC28A3 Nonsynonymous SNV E626D 0 0 0 1 0 0 0.003 0 0 0 0 0 6.092 324668 chr19 17838974 17838974 C T MAP1S Synonymous SNV G901G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 324669 chr19 18121410 18121410 G A rs764586828 ARRDC2 Nonsynonymous SNV D343N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 324670 chr9 94794737 94794737 G A rs758071979 SPTLC1 Nonsynonymous SNV P467L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.841 324671 chr9 103004870 103004870 A C rs151080341 INVS Nonsynonymous SNV H272P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.8 324672 chr19 18961561 18961561 C T rs370517239 UPF1 Synonymous SNV L232L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.63 324673 chr19 17516247 17516247 G C BST2 Nonsynonymous SNV I46M 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 324674 chrX 106845029 106845029 C T rs763089229 FRMPD3 Synonymous SNV L1287L 0 0 0 2 0 0 0.005 0 0 0 0 1 9.269 324675 chr19 3740552 3740552 C T rs765763713 TJP3 Nonsynonymous SNV A545V 0 0.003 0 0 0 1 0 0 0 0 0 0 34 324676 chrX 24006906 24006906 G A KLHL15 Nonsynonymous SNV P316L 0 0.005 0 0 0 2 0 0 0 1 0 0 23.9 324677 chrX 120181950 120181950 C T rs140532390 GLUD2 Stop gain Q138X 0 0 0 2 0 0 0.005 0 0 0 0 1 35 324678 chr19 19360590 19360590 G A rs780098305 NCAN Nonsynonymous SNV R1279Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 324679 chr19 33167709 33167709 G A rs762275547 RGS9BP Synonymous SNV A180A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 324680 chr19 33113417 33113417 C T rs745675301 ANKRD27 Nonsynonymous SNV V580I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.97 324681 chr9 120177193 120177193 G A rs577092797 ASTN2 Synonymous SNV L8L 0.002 0 0 0 2 0 0 0 1 0 0 0 Likely benign 10.36 324682 chrX 153696811 153696811 G A rs143996759 PLXNA3 Nonsynonymous SNV D1377N 0 0 0 2 0 0 0.005 0 0 0 0 1 28.5 324683 chrX 54777575 54777575 A T rs149957596 ITIH6 Synonymous SNV L1197L 0 0.005 0 0 0 2 0 0 0 1 0 0 0.343 324684 chrX 54964063 54964063 C T rs150980930 PFKFB1 Nonsynonymous SNV R333Q 0 0.005 0 0 0 2 0 0 0 1 0 0 34 324685 chrX 64738290 64738290 G A rs775564303 LAS1L Nonsynonymous SNV R443C 0 0.005 0 0 0 2 0 0 0 1 0 0 23 324686 chrX 65242327 65242327 C T VSIG4 Synonymous SNV E232E 0 0.005 0 0 0 2 0 0 0 1 0 0 2.004 324687 chrX 68382461 68382461 C T rs776829788 PJA1 Synonymous SNV S152S 0 0.005 0 0 0 2 0 0 0 1 0 0 11.2 324688 chr19 9270923 9270923 T C rs940198305 ZNF317 Nonsynonymous SNV V169A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.478 324689 chr19 39224811 39224811 G A rs375825467 CAPN12 Stop gain Q617X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 324690 chr19 36594100 36594100 C T rs771467789 WDR62 Nonsynonymous SNV R1169C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.7 324691 chr9 130149478 130149478 A G rs765156521 GARNL3 Nonsynonymous SNV I799V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.77 324692 chr19 9921901 9921901 T C FBXL12 Nonsynonymous SNV S185G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.025 324693 chr10 102266105 102266105 G C rs780762485 SEC31B Nonsynonymous SNV I285M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 324694 chr9 130507309 130507309 C T rs776057887 SH2D3C Nonsynonymous SNV R287H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 324695 chrX 51150704 51150704 G A rs782314957 EZHIP Nonsynonymous SNV R279H 0 0 0 2 0 0 0.005 0 0 0 0 1 7.249 324696 chr1 109295763 109295763 A G STXBP3 Nonsynonymous SNV T60A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 324697 chr9 131476534 131476534 C A rs762500187 PKN3 Synonymous SNV L457L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 324698 chr1 111892829 111892829 G C rs754339072 PIFO Nonsynonymous SNV R131T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 324699 chr10 102055960 102055960 A G rs200021969 PKD2L1 Synonymous SNV Y378Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.166 324700 chr9 139369937 139369937 T C SEC16A Nonsynonymous SNV R711G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 324701 chr10 106057364 106057364 T C rs781256400 GSTO2 Nonsynonymous SNV F104S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 324702 chr9 140160371 140160371 G A NELFB Synonymous SNV T361T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 324703 chr19 46388139 46388139 G C IRF2BP1 Nonsynonymous SNV H298Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.31 324704 chr19 12767769 12767769 C A rs143318498 MAN2B1 Synonymous SNV A507A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.1 324705 chr1 151158067 151158067 C T VPS72 Synonymous SNV K100K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 324706 chr19 48239657 48239657 A G rs200234195 EHD2 Nonsynonymous SNV K316R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 324707 chr1 151534219 151534219 A G rs951033632 TUFT1 Nonsynonymous SNV S2G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.668 324708 chr1 151861766 151861766 C T rs765404193 THEM4 Nonsynonymous SNV V124M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 324709 chr10 134162520 134162520 G C rs372811294 LRRC27 Nonsynonymous SNV R327P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.051 324710 chr19 48863417 48863417 G A rs764990466 TMEM143 Nonsynonymous SNV P94L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 324711 chr9 2651460 2651460 C T VLDLR Nonsynonymous SNV T725I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 324712 chr9 27212781 27212781 G A TEK Synonymous SNV E773E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.29 324713 chr9 32631874 32631874 T G TAF1L Nonsynonymous SNV H1235P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.309 324714 chr10 135025267 135025267 G A rs773807341 KNDC1 Nonsynonymous SNV G1381S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.557 324715 chr10 1405985 1405985 C T ADARB2 Synonymous SNV G105G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.608 324716 chr1 156849884 156849884 G A rs770727871 NTRK1 Nonsynonymous SNV G708S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 324717 chr9 72933865 72933865 T C SMC5 Synonymous SNV S712S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.446 324718 chr10 133967278 133967278 G A rs139189013 JAKMIP3 Nonsynonymous SNV E621K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 324719 chr10 32326488 32326488 G C rs749434997 KIF5B Synonymous SNV T182T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.253 324720 chr1 159858227 159858227 C T rs201664440 CFAP45 Nonsynonymous SNV R111Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 324721 chr9 86559804 86559804 C G C9orf64 Nonsynonymous SNV S233T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 324722 chr1 160811598 160811598 G A rs200689178 CD244 Nonsynonymous SNV A52V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.209 324723 chr1 160811599 160811599 C A rs201856283 CD244 Nonsynonymous SNV A52S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 324724 chr9 86920260 86920260 C A rs772362268 SLC28A3 Synonymous SNV G81G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.74 324725 chr19 53612770 53612770 T G rs756574051 ZNF415 Synonymous SNV S176S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.338 324726 chr1 167095060 167095060 G A rs369777179 DUSP27 Nonsynonymous SNV R231Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 324727 chr19 54684549 54684549 G A rs554078016 MBOAT7 Synonymous SNV P192P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.04 324728 chr10 3206019 3206019 G A rs200446212 PITRM1 Nonsynonymous SNV T198M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.8 324729 chr19 55791099 55791099 C T HSPBP1 Nonsynonymous SNV A6T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.594 324730 chr19 55869623 55869623 C T rs912277917 FAM71E2 Synonymous SNV S871S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.96 324731 chr10 64960355 64960355 G A JMJD1C Synonymous SNV D1500D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.346 324732 chr10 68138992 68138992 G A rs773885927 CTNNA3 Synonymous SNV I550I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.02 324733 chr10 45919596 45919596 G A ALOX5 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 324734 chr1 17966700 17966700 C T rs371330867 ARHGEF10L Synonymous SNV S428S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.46 324735 chrX 15266887 15266887 G T rs780061381 ASB9 Nonsynonymous SNV Q247K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.136 324736 chrX 153944567 153944567 C T rs782292835 GAB3 Nonsynonymous SNV R37H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 324737 chr10 76736022 76736022 A T rs778899637 KAT6B Nonsynonymous SNV M643L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.782 324738 chr10 81067295 81067295 C T rs151147481 ZMIZ1 Synonymous SNV L934L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.34 324739 chr1 19499498 19499498 C T rs374365470 UBR4 Synonymous SNV A1127A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.61 324740 chrX 30237507 30237507 C G MAGEB2 Synonymous SNV R270R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.912 324741 chr1 200587193 200587193 G A rs750228172 KIF14 Nonsynonymous SNV P220L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.29 324742 chr1 201058497 201058497 G A rs368173398 CACNA1S Synonymous SNV G263G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.473 324743 chr10 70248314 70248314 G A rs907273259 SLC25A16 Nonsynonymous SNV P94L 0.001 0 0 0 1 0 0 0 0 0 0 0 30 324744 chrX 44383480 44383480 T C FUNDC1 Synonymous SNV G144G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.552 324745 chr10 96162473 96162473 G A rs747424772 TBC1D12 Nonsynonymous SNV A35T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 324746 chrX 65247333 65247333 T A rs41305395 VSIG4 Nonsynonymous SNV T171S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.222 324747 chr1 205632168 205632168 G A rs537311786 SLC45A3 Nonsynonymous SNV R251W 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 324748 chr20 3214231 3214231 G A rs147786721 SLC4A11 Nonsynonymous SNV R236C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324749 chr10 74884984 74884984 A G rs373600529 NUDT13 Nonsynonymous SNV I192V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 324750 chr10 74999115 74999115 C A rs922809743 FAM149B1 Nonsynonymous SNV Q550K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 324751 chrX 70602424 70602424 C T TAF1 Nonsynonymous SNV P526S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 324752 chr10 93812064 93812064 C A rs762404398 CPEB3 Nonsynonymous SNV A654S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 324753 chrX 73963949 73963949 C T rs752027152 NEXMIF Nonsynonymous SNV G148D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26 324754 chr19 46832695 46832695 G A rs200007011 HIF3A Nonsynonymous SNV D489N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.612 324755 chr1 216062273 216062273 C T rs189748047 USH2A Nonsynonymous SNV R2573H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.91 324756 chr20 3180713 3180713 G A rs41281848 DDRGK1 Synonymous SNV L148L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.64 324757 chr1 224491438 224491438 T C rs142913195 NVL Nonsynonymous SNV H100R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 324758 chr20 23066556 23066556 T A CD93 Stop gain K92X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 324759 chr1 225492710 225492710 C T rs116490173 DNAH14 Nonsynonymous SNV T2975I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 324760 chr1 6188639 6188639 G A CHD5 Nonsynonymous SNV T1217I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.56 324761 chr20 31518260 31518260 C T EFCAB8 Synonymous SNV S823S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 324762 chr20 33315159 33315159 A C NCOA6 Nonsynonymous SNV S1025A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 324763 chr20 36030945 36030945 T C rs112739878 SRC Synonymous SNV F408F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.328 324764 chr1 229730131 229730131 C G rs142601849 TAF5L Synonymous SNV G561G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 324765 chr20 39317047 39317047 G A rs551111140 MAFB Synonymous SNV A148A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 324766 chr20 39983326 39983326 G A LPIN3 Synonymous SNV K524K 0.001 0 0 0 1 0 0 0 0 0 0 0 11.72 324767 chr11 114276496 114276496 C T rs752632231 RBM7 Nonsynonymous SNV P18L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 324768 chr20 33586209 33586209 C T MYH7B Synonymous SNV L1329L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.55 324769 chr20 34025545 34025545 C T rs371564366 GDF5 Nonsynonymous SNV R55Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 324770 chr19 52825750 52825750 G A rs746046422 ZNF480 Nonsynonymous SNV R373Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.9 324771 chr11 115102187 115102187 C T rs754556437 CADM1 Nonsynonymous SNV D150N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 324772 chr20 47864012 47864012 C T rs372355787 ZNFX1 Nonsynonymous SNV R1850H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 324773 chr1 19175900 19175900 A G rs201352113 TAS1R2 Nonsynonymous SNV Y468H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 324774 chr20 49367003 49367003 A G rs41283608 PARD6B Nonsynonymous SNV D366G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 324775 chr20 49509978 49509978 T C ADNP Nonsynonymous SNV S425G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.67 324776 chr20 50273588 50273588 G C rs764181764 ATP9A Synonymous SNV L465L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.277 324777 chr11 119031618 119031618 G A rs759266772 ABCG4 Synonymous SNV T581T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 324778 chr20 44803528 44803528 C T rs767171662 CDH22 Nonsynonymous SNV G702R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 324779 chr11 12247786 12247786 G A rs144478365 MICAL2 Nonsynonymous SNV R586Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 324780 chr20 60835075 60835075 G A rs79783838 OSBPL2 Nonsynonymous SNV A14T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 3.046 324781 chr20 60887989 60887989 G A rs78351582 LAMA5 Synonymous SNV A3011A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.969 324782 chr20 60893961 60893961 C T rs200655534 LAMA5 Nonsynonymous SNV R2327Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 324783 chr20 60898669 60898669 G A rs78985447 LAMA5 Synonymous SNV C1969C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.068 324784 chr20 55206518 55206518 C T TFAP2C Synonymous SNV A102A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.772 324785 chr20 62164952 62164952 C G PTK6 Nonsynonymous SNV G208R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 324786 chr20 61341090 61341090 G A rs149975885 NTSR1 Synonymous SNV K177K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 324787 chr1 26597589 26597589 G T rs771446535 CEP85 Synonymous SNV S10S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.704 324788 chr1 28286697 28286697 C T XKR8 Synonymous SNV L39L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 324789 chr1 28477120 28477120 G A PTAFR Nonsynonymous SNV S138F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 324790 chr1 32161690 32161690 T A COL16A1 Nonsynonymous SNV K306M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 324791 chr20 61471911 61471911 G A rs746704470 COL9A3 Nonsynonymous SNV G628S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 324792 chr11 122805579 122805579 A G JHY Nonsynonymous SNV E439G 0.001 0 0 0 1 0 0 0 0 0 0 0 22 324793 chr11 14539286 14539286 C T rs199580522 PSMA1 Synonymous SNV A52A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 324794 chr1 35580492 35580492 G A rs373516765 ZMYM1 Nonsynonymous SNV E946K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.146 324795 chr1 38047106 38047106 C A rs187326909 GNL2 Nonsynonymous SNV G317V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 324796 chr11 18111057 18111057 A G SAAL1 Nonsynonymous SNV V197A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.85 324797 chr1 39878414 39878414 A C rs200556320 KIAA0754 Nonsynonymous SNV E826A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 324798 chr1 40929247 40929247 A G ZFP69B Nonsynonymous SNV S531G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 324799 chr1 43748569 43748569 G A rs568177967 C1orf210 Nonsynonymous SNV R77C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 324800 chr21 39526550 39526550 C T rs535267885 DSCR8 0.001 0 0 0 1 0 0 0 0 0 0 0 18.52 324801 chr21 39795423 39795423 G A rs765934470 ERG Synonymous SNV T7T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.9 324802 chr1 46874835 46874835 C G rs755996635 FAAH Synonymous SNV L380L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 324803 chr10 72360399 72360399 C T rs557951406 PRF1 Nonsynonymous SNV R87H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.6 324804 chr21 45561195 45561195 C T rs758975670 GATD3A Nonsynonymous SNV S224L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.209 324805 chr21 45670720 45670720 G A DNMT3L Synonymous SNV D294D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.711 324806 chr11 3727723 3727723 G C NUP98 Synonymous SNV A912A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.475 324807 chr21 47556938 47556938 G A rs759031386 FTCD Nonsynonymous SNV A530V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 324808 chr21 47558494 47558494 C T rs544253281 FTCD Synonymous SNV T457T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.91 324809 chr1 67299381 67299381 G A rs777239898 WDR78 Stop gain R634X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 324810 chr1 79403669 79403669 C A rs773726466 ADGRL4 Nonsynonymous SNV V195L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 324811 chr22 19885655 19885655 T G rs369960227 TXNRD2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 324812 chr22 21384035 21384035 C A rs374754658 SLC7A4 Nonsynonymous SNV A530S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.59 324813 chr22 24086516 24086516 C T rs752958834 ZNF70 Nonsynonymous SNV R271Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 324814 chr22 37966654 37966654 A G rs201214648 LGALS2 Synonymous SNV L60L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.179 324815 chr22 38354424 38354424 G A rs978700822 POLR2F Synonymous SNV S3S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.041 324816 chr20 25493496 25493496 G A rs139869636 NINL Nonsynonymous SNV R142C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 324817 chr20 62191974 62191974 G A rs114867526 HELZ2 Nonsynonymous SNV P1884L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.02 324818 chr1 117699270 117699270 T C rs201360064 VTCN1 Nonsynonymous SNV D29G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 324819 chr20 31022346 31022346 G A rs372418554 ASXL1 Nonsynonymous SNV A550T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23 324820 chr1 119958101 119958101 G A rs748018110 HSD3B2 Nonsynonymous SNV R20H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 324821 chr22 38074545 38074545 C T rs370290813 LGALS1 Nonsynonymous SNV R49C 0 0 0 1 0 0 0.003 0 0 0 0 0 35 324822 chr1 150445240 150445240 T C rs186275199 RPRD2 Synonymous SNV P1246P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 324823 chr1 150973013 150973013 C T rs145467872 MINDY1 Nonsynonymous SNV D77N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 324824 chr1 151785469 151785469 G A rs749314860 RORC Synonymous SNV S392S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.75 324825 chr11 119535829 119535829 G A rs761931104 NECTIN1 Synonymous SNV H394H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.891 324826 chr1 153750811 153750811 C T rs140637267 SLC27A3 Nonsynonymous SNV R446C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 324827 chr22 51117587 51117587 C T rs778488904 SHANK3 Synonymous SNV D322D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.29 324828 chr20 52193767 52193767 T C rs758072080 ZNF217 Synonymous SNV T512T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.232 324829 chrX 9864413 9864413 C T rs570983388 SHROOM2 Nonsynonymous SNV P822L 0.002 0 0 0 2 0 0 0 1 0 0 0 0.003 324830 chrX 9905693 9905693 C T SHROOM2 Synonymous SNV P204P 0.002 0 0 0 2 0 0 0 1 0 0 0 10.33 324831 chr20 57767116 57767116 - CG ZNF831 Frameshift insertion S350Afs*185 0 0 0.003 0 0 0 0 1 0 0 0 0 324832 chr20 5843757 5843757 A G SHLD1 Nonsynonymous SNV K89R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.446 324833 chr1 161823100 161823100 C A rs201415050 ATF6 Nonsynonymous SNV T507N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.1 324834 chr11 62373551 62373551 G A rs757388631 EML3 Nonsynonymous SNV A548V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 324835 chr11 61957793 61957793 G A rs772030024 SCGB1D1 Nonsynonymous SNV A13T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 324836 chr11 62886495 62886495 G T SLC22A24 Nonsynonymous SNV S240Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.4 324837 chr1 173930926 173930926 T C RC3H1 Synonymous SNV Q713Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.094 324838 chr22 20100458 20100458 C T rs878947039 TRMT2A Nonsynonymous SNV R541Q 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 324839 chr11 31669304 31669304 G A ELP4 Nonsynonymous SNV A316T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 324840 chr1 182369499 182369499 G A rs1011853263 TEDDM1 Nonsynonymous SNV T41I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 324841 chr21 42064786 42064786 G A rs756373766 DSCAM Nonsynonymous SNV A153V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 324842 chr11 3680463 3680463 T G rs765509255 ART1 Nonsynonymous SNV M7R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.22 324843 chrX 135631093 135631093 G A rs964203164 VGLL1 Nonsynonymous SNV R187K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 324844 chr21 43519130 43519130 C T rs371738057 UMODL1 Synonymous SNV F342F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.677 324845 chr11 66290973 66290973 G A rs769422545 BBS1 Nonsynonymous SNV V293M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.9 324846 chr1 3409209 3409209 G A rs529755063 MEGF6 Nonsynonymous SNV R1504W 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 324847 chr22 29446859 29446859 C T rs766016311 ZNRF3 Nonsynonymous SNV A897V 0 0.003 0 0 0 1 0 0 0 0 0 0 1.13 324848 chrX 149639649 149639649 C A rs142908182 MAMLD1 Nonsynonymous SNV Q577K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.041 324849 chr11 45935954 45935954 G T rs747599205 PEX16 Nonsynonymous SNV H203N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.735 324850 chr1 7723553 7723553 A G rs752011665 CAMTA1 Nonsynonymous SNV S286G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 7.631 324851 chr21 47656800 47656800 C T rs150410111 MCM3AP Synonymous SNV V1909V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.96 324852 chr1 10703231 10703231 C T rs201463465 CASZ1 Nonsynonymous SNV V1336M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 324853 chr1 205901027 205901027 G A rs915153205 SLC26A9 Synonymous SNV H171H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 324854 chr22 19883011 19883011 C T rs777357363 TXNRD2 Nonsynonymous SNV G290S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.22 324855 chr22 19898912 19898912 G T rs201913959 TXNRD2 Nonsynonymous SNV S217Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.3 324856 chr22 21356273 21356273 C T THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 324857 chr1 15428057 15428057 G T rs140076587 KAZN Nonsynonymous SNV E522D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.52 324858 chr11 77583265 77583266 TG - AAMDC V111Afs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 324859 chr11 8115604 8115604 G A rs760860395 TUB Nonsynonymous SNV D89N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 324860 chr22 31679158 31679158 G C rs200897541 PIK3IP1 Nonsynonymous SNV T235S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 324861 chr11 55587610 55587610 T A rs141630065 OR5D18 Nonsynonymous SNV F169I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 324862 chr11 94203786 94203786 T C rs760966006 MRE11 Nonsynonymous SNV K290E 0 0.003 0 0 0 1 0 0 0 0 0 0 23 324863 chr22 37708111 37708111 C T rs143682283 CYTH4 Synonymous SNV A279A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.35 324864 chr22 37770782 37770782 C T rs140787341 ELFN2 Nonsynonymous SNV A265T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.253 324865 chr10 26500851 26500851 C T MYO3A Nonsynonymous SNV R1604C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 324866 chr1 235377332 235377332 C T rs773738645 ARID4B Synonymous SNV T531T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 324867 chr22 40757623 40757623 G C rs776496275 ADSL Nonsynonymous SNV D332H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 32 324868 chr1 242042206 242042206 G A rs143800705 EXO1 Nonsynonymous SNV R557H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.257 324869 chr1 29587157 29587157 C G PTPRU Nonsynonymous SNV R296G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 324870 chr10 43623624 43623624 C T RET Synonymous SNV N1084N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 9.876 324871 chr10 45486467 45486467 G A rs201005781 RASSF4 Nonsynonymous SNV A253T 0.001 0 0 0 1 0 0 0 0 0 0 0 33 324872 chr11 96124830 96124830 T C rs771821922 JRKL Synonymous SNV R339R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.415 324873 chrX 64722366 64722366 C G rs376612789 ZC3H12B Synonymous SNV S596S 0.001 0.005 0 0 1 2 0 0 0 1 0 0 6.182 324874 chr1 39339597 39339597 G A rs779016473 GJA9-MYCBP 0 0 0 1 0 0 0.003 0 0 0 0 0 5.763 324875 chr12 110370988 110370988 T C GIT2 Nonsynonymous SNV K612R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 324876 chr1 40214726 40214726 T C rs751095684 PPIE Synonymous SNV D220D 0 0 0 1 0 0 0.003 0 0 0 0 0 5.773 324877 chr1 40770477 40770477 T G rs145327896 COL9A2 Nonsynonymous SNV M384L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 10.92 324878 chr1 43738833 43738833 T C rs200224005 TMEM125 Nonsynonymous SNV M147T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 324879 chr1 43917625 43917625 G A rs374964265 HYI Synonymous SNV F162F 0 0 0 1 0 0 0.003 0 0 0 0 0 10.71 324880 chr12 122691507 122691507 C T B3GNT4 Nonsynonymous SNV P212S 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 324881 chr1 46488914 46488914 G C rs199547415 MAST2 Nonsynonymous SNV A499P 0 0 0 1 0 0 0.003 0 0 0 0 0 13.26 324882 chr1 46642092 46642092 G C rs984935832 LOC110117498-PIK3R3, P3R3URF Nonsynonymous SNV P18A 0 0 0 1 0 0 0.003 0 0 0 0 0 1.128 324883 chr12 121469314 121469314 T A OASL Nonsynonymous SNV R196S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 324884 chr2 17698504 17698504 T C RAD51AP2 Synonymous SNV Q393Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 324885 chr11 609252 609252 G A PHRF1 Nonsynonymous SNV E1266K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 324886 chr11 61583894 61583894 A T rs770421234 FADS2 Nonsynonymous SNV Q46L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.601 324887 chr12 128899941 128899941 C T rs775829161 TMEM132C Synonymous SNV N250N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 324888 chr12 133398659 133398659 C T GOLGA3 Nonsynonymous SNV G19D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.076 324889 chr11 64368987 64368987 G A rs143053863 SLC22A12 Synonymous SNV T434T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.634 324890 chr1 64643917 64643917 G T ROR1 Nonsynonymous SNV E731D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 324891 chr1 85487850 85487850 G A rs141743037 MCOLN3 Nonsynonymous SNV A352V 0 0 0 1 0 0 0.003 0 0 0 0 0 31 324892 chr1 85510926 85510926 G A rs143078993 MCOLN3 Stop gain R40X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 324893 chr2 179613049 179613049 A G rs139486133 TTN Nonsynonymous SNV I4693T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.086 324894 chr2 182542817 182542817 A G NEUROD1 Synonymous SNV F257F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.229 324895 chr12 42854381 42854381 T C PRICKLE1 Nonsynonymous SNV K576E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 324896 chr1 104077996 104077996 C T RNPC3 Nonsynonymous SNV P163L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324897 chr2 71337239 71337239 T C MCEE Nonsynonymous SNV N131S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.443 324898 chr12 4835813 4835813 A G rs35478697 GALNT8 Synonymous SNV T109T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 324899 chr12 50191130 50191130 G A rs199512716 NCKAP5L Synonymous SNV A171A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 324900 chr12 48387780 48387780 G A COL2A1 Synonymous SNV H220H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 324901 chr1 118616563 118616565 CTG - SPAG17 A766del 0 0 0 1 0 0 0.003 0 0 0 0 0 324902 chr2 215847098 215847098 T C rs773471144 ABCA12 Synonymous SNV K1146K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.099 324903 chr1 149920894 149920894 A G rs782004109 OTUD7B Synonymous SNV D405D 0 0 0 1 0 0 0.003 0 0 0 0 0 4.403 324904 chr1 149921643 149921643 A G OTUD7B Synonymous SNV L338L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.588 324905 chr2 102965668 102965668 C T rs148477219 IL1RL1 Nonsynonymous SNV T416I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 324906 chr12 54349269 54349269 G T HOXC12 Nonsynonymous SNV D186Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 324907 chr2 223158445 223158445 A G PAX3 Synonymous SNV H206H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.136 324908 chr10 33552776 33552776 T C rs200959306 NRP1 Synonymous SNV T152T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.017 324909 chr11 118895981 118895982 AG - rs80356491 SLC37A4 L348Vfs*53 0.001 0 0 0 1 0 0 0 0 0 0 0 324910 chr1 153603056 153603056 C T rs778293778 S100A1 Nonsynonymous SNV S20L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324911 chr1 153750643 153750643 G C SLC27A3 Nonsynonymous SNV A390P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 324912 chr12 104345393 104345393 G A rs200318400 C12orf73 Nonsynonymous SNV P42S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 324913 chr2 231860958 231860958 G C rs367718469 SPATA3 Nonsynonymous SNV V4L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 324914 chr11 12264321 12264321 - AAACA MICAL2 0.001 0 0 0 1 0 0 0 0 0 0 0 324915 chr2 234863883 234863883 C T rs182733234 TRPM8 Nonsynonymous SNV R451C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 324916 chr1 156823940 156823940 C T rs568055411 INSRR Nonsynonymous SNV D81N 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 324917 chr2 23914680 23914680 A G KLHL29 Nonsynonymous SNV T406A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.269 324918 chr2 152375545 152375545 G A rs373263895 NEB Synonymous SNV P5842P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.05 324919 chr2 241389148 241389148 T - rs140775481 LOC100130449 0 0 0.003 0 0 0 0 1 0 0 0 0 324920 chr2 241398561 241398561 G A rs140790256 GPC1 Nonsynonymous SNV R94H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 324921 chr2 241500134 241500134 C T rs577759509 DUSP28 Synonymous SNV A11A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 324922 chr2 153575369 153575369 G C ARL6IP6 Synonymous SNV G77G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.654 324923 chr2 241870463 241870463 G A rs140873239 CROCC2 Nonsynonymous SNV G289R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 324924 chr2 241898678 241898678 C T rs114892633 LOC200772 0 0 0.003 0 0 0 0 1 0 0 0 0 3.243 324925 chr2 241929202 241929202 G A rs73107884 CROCC2 Synonymous SNV E1605E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.727 324926 chr2 24240154 24240154 A C MFSD2B 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 324927 chr1 160011280 160011280 C T rs146396982 KCNJ10 Nonsynonymous SNV R348H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Uncertain significance 19.99 324928 chr11 15247304 15247304 A G rs767170545 INSC Nonsynonymous SNV N325S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 324929 chr2 26539255 26539255 G A ADGRF3 Synonymous SNV N119N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.281 324930 chr2 27688722 27688722 C T rs762521619 IFT172 Nonsynonymous SNV G574R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 324931 chr1 171514641 171514641 G A rs867917276 PRRC2C Nonsynonymous SNV G1594D 0 0 0 1 0 0 0.003 0 0 0 0 0 9.542 324932 chr2 39281905 39281905 G A rs55980502 SOS1 Synonymous SNV D190D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Benign 8.242 324933 chr2 42281418 42281418 C T rs140008026 PKDCC Synonymous SNV N335N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 324934 chr13 103326797 103326797 C T rs769198318 TPP2 Nonsynonymous SNV T1166I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.91 324935 chr2 61272864 61272864 G C rs145568490 PEX13 Nonsynonymous SNV S264T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.121 324936 chr12 28459732 28459732 G A CCDC91 Nonsynonymous SNV D109N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 324937 chr2 209190427 209190427 G A rs146556775 PIKFYVE Synonymous SNV P964P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.82 324938 chr12 33003743 33003743 C T PKP2 Synonymous SNV V445V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.92 324939 chr13 45149958 45149958 G A rs777024824 TSC22D1 Synonymous SNV L85L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.283 324940 chr13 32691594 32691594 A T FRY Nonsynonymous SNV S150C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 324941 chr1 202935122 202935122 C T CYB5R1 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 324942 chr13 43180634 43180634 T C rs146484645 TNFSF11 Synonymous SNV G178G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 4.87 324943 chr12 49689313 49689313 C G PRPH Nonsynonymous SNV N110K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 324944 chr12 49689961 49689961 G T PRPH Nonsynonymous SNV R182S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 324945 chr3 10045081 10045081 C T rs149744256 EMC3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.452 324946 chr11 108276206 108276206 T A C11orf65 Nonsynonymous SNV Q121H 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 324947 chr12 51591740 51591740 G A rs542060024 POU6F1 Nonsynonymous SNV S220L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.02 324948 chr11 111922036 111922036 G A rs782632175 DLAT Nonsynonymous SNV E352K 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324949 chr3 119133123 119133123 C T ARHGAP31 Nonsynonymous SNV P783S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 324950 chr11 120292537 120292537 A C ARHGEF12 Synonymous SNV V89V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.462 324951 chr12 56482548 56482548 C A ERBB3 Synonymous SNV G335G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.03 324952 chr14 105420493 105420493 G A rs930358569 AHNAK2 Nonsynonymous SNV A332V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 324953 chr3 124356114 124356114 T A rs765976453 KALRN Synonymous SNV L178L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.05 324954 chr3 129294350 129294350 C T rs747937468 PLXND1 Nonsynonymous SNV R831Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 324955 chr1 246755193 246755193 G A rs747334742 CNST Nonsynonymous SNV G110E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 324956 chr1 247109120 247109120 C A ZNF695 Synonymous SNV S166S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 324957 chr3 8667334 8667334 C T SSUH2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 324958 chr1 247264222 247264222 A G rs751240541 ZNF669 Synonymous SNV C197C 0 0 0 1 0 0 0.003 0 0 0 0 0 0.88 324959 chr14 51225070 51225070 T C NIN Nonsynonymous SNV E893G 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 324960 chr3 149638970 149638970 G A rs146279690 RNF13 Nonsynonymous SNV R100H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 324961 chr14 33292035 33292035 G A rs772482363 AKAP6 Nonsynonymous SNV M1672I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 324962 chr3 164786544 164786544 G A SI Nonsynonymous SNV T150I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.803 324963 chr3 36898660 36898660 C A rs756643346 TRANK1 Nonsynonymous SNV M807I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 324964 chr3 167183414 167183414 G A rs114254410 SERPINI2 Nonsynonymous SNV R176W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 324965 chr3 38080966 38080966 C T rs201100943 DLEC1 Nonsynonymous SNV P84S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 324966 chr3 38240217 38240217 T C rs56013125 OXSR1 Synonymous SNV S99S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.807 324967 chr2 8873762 8873762 G A rs781331572 KIDINS220 Nonsynonymous SNV R1233C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 324968 chr2 8926011 8926011 C T rs761044466 KIDINS220 Nonsynonymous SNV A698T 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 324969 chr14 50585064 50585064 A G rs142666803 SOS2 X1333R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.2 324970 chr3 38739106 38739106 G A rs141648641 SCN10A Nonsynonymous SNV R1771C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 33 324971 chr3 185390334 185390334 A C IGF2BP2 Nonsynonymous SNV F263V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 324972 chr14 61186682 61186682 G C SIX4 Nonsynonymous SNV P449A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 324973 chr3 44842954 44842954 C G rs951221076 KIF15 Nonsynonymous SNV T412S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.152 324974 chr3 195597064 195597064 T C rs377761048 TNK2 Synonymous SNV G512G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.995 324975 chr13 21357896 21357896 T A XPO4 Nonsynonymous SNV M1027L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 324976 chr3 52817120 52817120 C T rs780708126 ITIH1 Nonsynonymous SNV R72W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 324977 chr3 42728247 42728247 C T KLHL40 Synonymous SNV S379S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 324978 chr13 39425110 39425110 C G FREM2 Nonsynonymous SNV L2203V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 324979 chr3 42915841 42915841 C G rs267599827 CYP8B1 Nonsynonymous SNV D490H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 324980 chr14 92472423 92472423 G T rs377170955 TRIP11 Nonsynonymous SNV Q632K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.059 324981 chr3 69435110 69435110 C A rs938431743 FRMD4B Nonsynonymous SNV D11Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 324982 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*69 0.002 0 0 0 2 0 0 0 0 0 0 0 324983 chr3 47451424 47451426 GAA - rs751441543 PTPN23 K589del 0 0 0.003 0 0 0 0 1 0 0 0 0 324984 chr13 52516643 52516643 C T rs766632973 ATP7B Synonymous SNV V890V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 324985 chr15 25961967 25961967 C A rs138320664 ATP10A Synonymous SNV S562S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 14.75 324986 chr13 53420019 53420019 G A rs936609285 PCDH8 Synonymous SNV G851G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 324987 chr3 49847038 49847038 G A UBA7 Synonymous SNV G675G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 324988 chr3 50137665 50137665 T A rs569105758 RBM5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.546 324989 chr3 51418963 51418963 C T rs782019100 DOCK3 Synonymous SNV A2022A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.056 324990 chr3 51697106 51697106 G A rs146173527 RAD54L2 Synonymous SNV T1358T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 324991 chr2 74687420 74687420 A G WBP1 Nonsynonymous SNV Y141C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 324992 chr15 38803833 38803833 C T rs762442488 RASGRP1 Nonsynonymous SNV S313N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 324993 chr2 85280406 85280406 T C rs115702180 KCMF1 Synonymous SNV D340D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.067 324994 chr15 23889770 23889770 A G MAGEL2 Synonymous SNV P1040P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.112 324995 chr2 96048167 96048167 C T rs774695030 KCNIP3 Nonsynonymous SNV R174C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 324996 chr2 97164047 97164047 G T NEURL3 Nonsynonymous SNV L112M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.88 324997 chr2 98430726 98430726 A C rs371371534 TMEM131 Nonsynonymous SNV L473R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 324998 chr15 42180220 42180220 G A rs202240185 SPTBN5 Nonsynonymous SNV R189W 0 0.003 0 0 0 1 0 0 0 0 0 0 32 324999 chr15 38794611 38794611 C G RASGRP1 Nonsynonymous SNV K445N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 325000 chr3 123471343 123471343 C T rs779602599 MYLK Nonsynonymous SNV G70R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 325001 chr3 124420931 124420931 C T KALRN Synonymous SNV D983D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.55 325002 chr15 41961614 41961614 A G rs753792029 MGA Synonymous SNV V174V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.595 325003 chr3 9974919 9974919 C T rs147287050 IL17RC Nonsynonymous SNV A549V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.8 325004 chr2 113941019 113941019 C T PSD4 Nonsynonymous SNV S329F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.186 325005 chr15 42439328 42439328 G C PLA2G4F Stop gain Y471X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 325006 chr14 20898735 20898735 C T rs1003212014 KLHL33 Nonsynonymous SNV G34R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 325007 chr15 49030822 49030822 C T rs202237336 CEP152 Nonsynonymous SNV R1530H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.214 325008 chr14 21972007 21972007 C A rs201324567 METTL3 Nonsynonymous SNV A40S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 325009 chr4 119662159 119662159 G A SEC24D Nonsynonymous SNV L678F 0 0 0.003 0 0 0 0 1 0 0 0 0 26 325010 chr12 106995119 106995119 C G RFX4 Nonsynonymous SNV S22C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 325011 chr15 66209238 66209238 C T rs199594287 MEGF11 Nonsynonymous SNV G715R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 325012 chr2 152527728 152527728 C T rs771779312 NEB Nonsynonymous SNV E1439K 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.8 325013 chr15 43622670 43622670 A T LCMT2 Synonymous SNV R6R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 325014 chr2 154335003 154335003 G A rs147952733 RPRM Nonsynonymous SNV A26V 0 0 0 1 0 0 0.003 0 0 0 0 0 13.99 325015 chr12 111093063 111093063 G A rs759857412 HVCN1 Synonymous SNV P109P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.763 325016 chr12 112481521 112481521 C T rs199640099 NAA25 Nonsynonymous SNV V720I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 325017 chr4 148539123 148539123 A G TMEM184C Nonsynonymous SNV T6A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 325018 chr14 37737999 37737999 G A rs567235015 MIPOL1 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 325019 chr15 68504160 68504160 C T rs146135801 CLN6 Synonymous SNV T113T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.45 325020 chr15 78640314 78640314 G - CRABP1 E137Sfs*18 0 0.003 0 0 0 1 0 0 0 0 0 0 325021 chr2 177036682 177036682 A G rs199832736 HOXD3 Nonsynonymous SNV K327E 0 0 0 1 0 0 0.003 0 0 0 0 0 25.6 325022 chr2 179442906 179442906 T C TTN Nonsynonymous SNV H13714R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.28 325023 chr2 179451522 179451522 G C rs778476727 TTN Nonsynonymous SNV P12304R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 325024 chr2 179469503 179469503 G A rs765739434 TTN Nonsynonymous SNV R9040C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 325025 chr2 179477176 179477176 G A rs397517598 TTN Synonymous SNV D7627D 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.331 325026 chr2 179430195 179430195 T C rs553118383 TTN Synonymous SNV T17823T 0 0 0 1 0 0 0.003 0 0 0 0 0 2.633 325027 chr15 81638772 81638772 C G TMC3 Synonymous SNV L402L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 325028 chr15 83428126 83428126 T C rs201393187 FSD2 Nonsynonymous SNV M697V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 325029 chr2 182430204 182430204 C T CERKL Stop gain W193X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic 27.3 325030 chr2 183050634 183050634 C T rs370742608 PDE1A Nonsynonymous SNV E483K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 325031 chr4 2438679 2438679 G C CFAP99 Nonsynonymous SNV V64L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.961 325032 chr4 2673929 2673929 G A rs777954987 FAM193A Nonsynonymous SNV G430R 0.001 0 0 0 1 0 0 0 0 0 0 0 30 325033 chr2 200797949 200797949 G A TYW5 Synonymous SNV T263T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.68 325034 chr4 3216904 3216904 C T rs945523540 HTT Synonymous SNV S2340S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 325035 chr2 201721629 201721629 C T rs144181237 CLK1 Synonymous SNV A346A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.76 325036 chr15 91810815 91810815 G T rs146252262 SV2B Nonsynonymous SNV G273W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 325037 chr4 6292986 6292986 G A WFS1 Nonsynonymous SNV A175T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 325038 chr2 211444452 211444452 T C rs138779023 CPS1 Synonymous SNV Y162Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 1.331 325039 chr16 1270929 1270929 C T CACNA1H Synonymous SNV L2327L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.44 325040 chr4 57830594 57830594 G A rs770579795 NOA1 Synonymous SNV A621A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 325041 chr2 218669242 218669242 C G rs552749103 TNS1 Synonymous SNV P1695P 0 0 0 1 0 0 0.003 0 0 0 0 0 12.7 325042 chr16 1706046 1706046 G A rs772594351 CRAMP1 Nonsynonymous SNV G430S 0 0.003 0 0 0 1 0 0 0 0 0 0 24 325043 chr4 6600070 6600070 C T rs138386873 MAN2B2 Nonsynonymous SNV A414V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.867 325044 chr2 219695070 219695070 C G PRKAG3 Synonymous SNV G88G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.73 325045 chr16 1257304 1257304 C G rs770074317 CACNA1H Synonymous SNV V979V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.08 325046 chr16 20043748 20043748 A G rs142100378 GPR139 Nonsynonymous SNV I124T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 325047 chr2 220497038 220497038 C A SLC4A3 Synonymous SNV R366R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 325048 chr2 223504312 223504312 G C rs146902533 FARSB Nonsynonymous SNV Q148E 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 325049 chr4 7941071 7941071 C A LOC389199 Nonsynonymous SNV T60K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 325050 chr16 21213488 21213488 C G rs143091073 ZP2 Nonsynonymous SNV E408D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 325051 chr4 8605846 8605846 G A rs749305362 CPZ Nonsynonymous SNV G203R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 325052 chr4 88243931 88243931 C T rs147733873 HSD17B13 Synonymous SNV S21S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 325053 chr16 2140774 2140774 G A rs200796474 PKD1 Synonymous SNV S4012S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.61 325054 chr16 324065 324065 C T rs753858525 RGS11 Nonsynonymous SNV G125E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 325055 chr2 237489447 237489447 C T rs762709549 ACKR3 Synonymous SNV G113G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.89 325056 chr2 238475689 238475689 C T rs141578550 PRLH Synonymous SNV R45R 0 0 0 1 0 0 0.003 0 0 0 0 0 9.189 325057 chr4 77231050 77231050 T C STBD1 Nonsynonymous SNV L325S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 325058 chr16 2764324 2764324 A G rs368697889 PRSS27 Nonsynonymous SNV S84P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 325059 chr16 31131765 31131765 C G KAT8 Nonsynonymous SNV A131G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 325060 chr16 3021332 3021332 G A rs754531674 PAQR4 Nonsynonymous SNV R75Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 325061 chr16 3073266 3073266 G C rs548084088 HCFC1R1 Synonymous SNV P64P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 325062 chr15 49528079 49528079 A G rs370436045 GALK2 Nonsynonymous SNV I89V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 325063 chr16 30977380 30977380 C T rs750394524 SETD1A Synonymous SNV Y726Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.607 325064 chr16 4165101 4165101 G T ADCY9 Synonymous SNV R115R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.308 325065 chr15 57815713 57815713 G A CGNL1 Synonymous SNV E914E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 325066 chr16 4165180 4165180 G A ADCY9 Synonymous SNV S88S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.022 325067 chr12 6928486 6928486 C T rs28919579 CD4 Synonymous SNV S277S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.73 325068 chr5 140515342 140515342 T A rs144112908 PCDHB5 Stop gain L109X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 325069 chr5 140874422 140874422 G A rs200418116 PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5 Nonsynonymous SNV G827S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 325070 chr12 7295544 7295544 C T rs201623776 CLSTN3 Synonymous SNV R540R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 325071 chr5 14498235 14498235 G A rs752250789 TRIO Synonymous SNV T2695T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 325072 chr3 38938365 38938365 T C rs144435092 SCN11A Nonsynonymous SNV I792V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.384 325073 chr3 39186607 39186607 G A rs145870952 CSRNP1 Nonsynonymous SNV R136C 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 325074 chr5 153413358 153413358 A G FAM114A2 Synonymous SNV Y62Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 325075 chr4 159638248 159638249 AT - rs368268182 PPID H146Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 325076 chr5 15936659 15936659 G A rs751663784 FBXL7 Synonymous SNV T233T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 325077 chr16 81232514 81232514 G A PKD1L2 Synonymous SNV N432N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.144 325078 chr5 176070694 176070694 G A rs370342054 EIF4E1B Synonymous SNV L85L 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.079 325079 chr13 111111150 111111150 G A rs777186602 COL4A2 Nonsynonymous SNV D489N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 325080 chr3 48628908 48628908 C T rs143991798 COL7A1 Nonsynonymous SNV R542H 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.9 325081 chr3 49753093 49753093 C T rs552386360 RNF123 Synonymous SNV S1032S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.07 325082 chr3 50252088 50252088 G A SLC38A3 Nonsynonymous SNV E63K 0 0 0 1 0 0 0.003 0 0 0 0 0 16.52 325083 chr3 50334540 50334540 C T rs35833373 NAA80 Nonsynonymous SNV V119I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.288 325084 chr3 52437613 52437613 C T rs148990823 BAP1 Synonymous SNV P516P 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 8.645 325085 chr3 57107745 57107745 G T SPATA12 Nonsynonymous SNV C8F 0 0 0 1 0 0 0.003 0 0 0 0 0 13.7 325086 chr5 33998895 33998895 T G AMACR Nonsynonymous SNV E143D 0 0 0.007 0 0 0 0 2 0 0 0 0 17.85 325087 chr16 84695711 84695711 G A KLHL36 Nonsynonymous SNV G545D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.235 325088 chr3 58870301 58870301 C T rs36098207 C3orf67 Nonsynonymous SNV G24R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 325089 chr3 53834278 53834278 G A rs568306347 CACNA1D Synonymous SNV A1627A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14 325090 chr3 62189173 62189173 G A rs746918640 PTPRG Synonymous SNV S568S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.188 325091 chr3 64673298 64673298 G C ADAMTS9 Synonymous SNV L12L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.52 325092 chr5 52779361 52779361 C T FST Nonsynonymous SNV P102L 0 0 0.003 0 0 0 0 1 0 0 0 0 28 325093 chr17 10545915 10545915 C T rs371043485 MYH3 Synonymous SNV V569V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.26 325094 chr16 88884484 88884484 G A rs73251084 GALNS Synonymous SNV V286V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.42 325095 chr16 88932284 88932284 T G rs115461902 PABPN1L Synonymous SNV P107P 0.002 0 0 0 2 0 0 0 0 0 0 0 0.017 325096 chr16 88932976 88932976 C A rs77252404 PABPN1L Synonymous SNV P13P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.597 325097 chr3 108626972 108626972 G A rs769302584 GUCA1C Nonsynonymous SNV S176F 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 325098 chr16 89167479 89167479 C G ACSF3 Synonymous SNV P130P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.97 325099 chr17 30807544 30807544 C T rs35729014 PSMD11 Synonymous SNV F388F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 325100 chr5 79373876 79373876 C T rs747359533 THBS4 Synonymous SNV D606D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 325101 chr5 79950727 79950727 - CAGCGCCCCCAGCGCCCC rs60484572 MSH3 P69_A70insPAPPAP 0 0 0.003 0 0 0 0 1 0 0 0 0 325102 chr5 83549978 83549978 T C rs148512641 EDIL3 Synonymous SNV G40G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.765 325103 chr17 26901752 26901752 C T ALDOC Nonsynonymous SNV A168T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 325104 chr5 96498923 96498923 C G RIOK2 Nonsynonymous SNV V501L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 325105 chr3 129134128 129134128 A T EFCAB12 Synonymous SNV S266S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 325106 chr6 10956405 10956405 A G SYCP2L Nonsynonymous SNV E698G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 325107 chr3 131188581 131188581 C T MRPL3 Nonsynonymous SNV G259R 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 325108 chr6 114277179 114277179 T C rs777768132 HDAC2 Synonymous SNV L165L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 325109 chr17 35299640 35299640 T C rs761356158 LHX1 Synonymous SNV N273N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.75 325110 chr6 117859928 117859928 C T rs375609762 DCBLD1 Synonymous SNV G302G 0 0 0.007 0 0 0 0 2 0 0 0 0 13.28 325111 chr17 36962560 36962560 C T rs200910216 CWC25 Nonsynonymous SNV G331R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 325112 chr6 123110501 123110501 G A rs527549984 SMPDL3A Nonsynonymous SNV V4M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 325113 chr3 149484958 149484958 G A rs563744708 ANKUB1 Synonymous SNV C497C 0 0 0 1 0 0 0.003 0 0 0 0 0 9.683 325114 chr3 150460005 150460005 C T SIAH2 Nonsynonymous SNV D300N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.1 325115 chr14 23993170 23993170 G A ZFHX2 Nonsynonymous SNV P1994L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.23 325116 chr3 172165666 172165666 C A rs200032789 GHSR Nonsynonymous SNV V180L 0 0 0 1 0 0 0.003 0 0 0 0 0 22 325117 chr16 66642247 66642247 G A rs149684359 CMTM3 Synonymous SNV A61A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 325118 chr6 148664233 148664256 GCCGGAGCCTGAGCCCGAGCCCGA - rs758905518 SASH1 E16_P23del 0 0 0.003 0 0 0 0 1 0 0 0 0 325119 chr17 39580302 39580302 G A rs148245015 KRT37 Synonymous SNV I158I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 325120 chr14 50583254 50583254 T A VCPKMT Nonsynonymous SNV E6V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 325121 chr3 184105206 184105206 C T rs757024413 CHRD Nonsynonymous SNV R798W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 325122 chr17 40269089 40269089 A T rs151175267 KAT2A Synonymous SNV I576I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.735 325123 chr16 72821633 72821638 GCCACT - ZFHX3 S2599_G2600del 0.001 0 0 0 1 0 0 0 0 0 0 0 325124 chr5 140262581 140262581 A G rs782381110 PCDHA13 Nonsynonymous SNV Y243C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 325125 chr3 186364037 186364037 T C FETUB Nonsynonymous SNV W134R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 325126 chr5 140515158 140515158 C T PCDHB5 Synonymous SNV L48L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 325127 chr5 140737017 140737017 G T PCDHGA4 Synonymous SNV L781L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.06 325128 chr5 141316862 141316862 G A rs137962377 DELE1 Nonsynonymous SNV A417T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 325129 chr14 69701576 69701576 C T rs770383229 EXD2 Stop gain R168X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 325130 chr16 87446498 87446498 G A rs372915656 ZCCHC14 Nonsynonymous SNV T610M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 325131 chr17 5462368 5462368 G C NLRP1 Nonsynonymous SNV L550V 0 0.003 0 0 0 1 0 0 0 0 0 0 18.64 325132 chr17 42932017 42932023 GTACTTG - EFTUD2 K686Ifs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 325133 chr17 56388282 56388282 T G rs746278177 TSPOAP1 Nonsynonymous SNV Q1065P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.511 325134 chr6 3017155 3017155 C T rs746607245 NQO2 Nonsynonymous SNV T114M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 325135 chr4 6087236 6087236 G C JAKMIP1 Nonsynonymous SNV Q84E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 325136 chr17 66980305 66980305 C T rs572581251 ABCA9 Nonsynonymous SNV R1464Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22 325137 chr4 10446074 10446074 T G ZNF518B Nonsynonymous SNV T627P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.022 325138 chr14 94933712 94933712 C G rs189300483 SERPINA9 Nonsynonymous SNV W132C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 325139 chr4 23814428 23814428 T C rs763643344 PPARGC1A Nonsynonymous SNV Y527C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.87 325140 chr6 41556414 41556414 G A FOXP4 Nonsynonymous SNV R337Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 325141 chr13 52330561 52330561 G T rs774055475 WDFY2 Nonsynonymous SNV V343F 0 0 0 1 0 0 0.003 0 0 0 0 0 32 325142 chr4 16168311 16168313 GGT - TAPT1 T473del 0 0 0 1 0 0 0.003 0 0 0 0 0 325143 chr4 25678279 25678279 G T rs945288110 SLC34A2 Nonsynonymous SNV A660S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.171 325144 chr17 17075172 17075172 C T MPRIP Synonymous SNV T768T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 325145 chr17 7216938 7216938 G A GPS2 Nonsynonymous SNV P195S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 325146 chr6 5086288 5086288 T A rs1030961398 PPP1R3G Nonsynonymous SNV L190H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 325147 chr4 56325384 56325384 T C rs200006815 CLOCK Nonsynonymous SNV I202V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.74 325148 chr15 41864762 41864762 - AACCTACCCCTCCAGACCCTGATCCG rs773540028 TYRO3 Frameshift insertion F590Tfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 325149 chr14 105222965 105222965 C T rs138488746 SIVA1 Nonsynonymous SNV A48V 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 325150 chr4 71114803 71114803 G A rs977578129 CSN3 Nonsynonymous SNV G59E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 325151 chr17 76497340 76497340 G A rs370045140 DNAH17 Synonymous SNV C1803C 0 0.003 0 0 0 1 0 0 0 0 0 0 11.11 325152 chr17 27381577 27381577 C T rs142365862 PIPOX Synonymous SNV N225N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 325153 chr4 74453647 74453647 T A RASSF6 Nonsynonymous SNV T86S 0 0 0 1 0 0 0.003 0 0 0 0 0 17.48 325154 chr6 82925936 82925936 T G IBTK Synonymous SNV S486S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.663 325155 chr17 78280174 78280174 T C rs141120581 RNF213 Nonsynonymous SNV I778T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 325156 chr6 99914608 99914610 GAA - rs754652938 USP45 F349del 0 0 0.003 0 0 0 0 1 0 0 0 0 325157 chr17 3786423 3786423 G A CAMKK1 Synonymous SNV A187A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 325158 chr6 43307370 43307370 G C rs140165940 ZNF318 Nonsynonymous SNV P1456A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 325159 chr4 100349074 100349074 G A rs760759023 ADH7 Synonymous SNV F152F 0 0 0 1 0 0 0.003 0 0 0 0 0 8.663 325160 chr17 80320204 80320204 G T TEX19 Nonsynonymous SNV D60Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 325161 chr6 44197180 44197180 C T rs746738799 SLC29A1 Nonsynonymous SNV P54L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325162 chr4 108953510 108953510 C T rs183387994 HADH Nonsynonymous SNV S246L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 325163 chr15 68122570 68122570 G C rs749099614 SKOR1 Nonsynonymous SNV E817Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 325164 chr18 10705671 10705671 - CTCAGCCTCCACCTCCTC PIEZO2 E1774_Q1775insEEVEAE 0 0.003 0 0 0 1 0 0 0 0 0 0 325165 chr4 110638824 110638824 C T rs114816312 PLA2G12A Nonsynonymous SNV D111N 0 0 0 1 0 0 0.003 0 0 0 0 0 34 325166 chr4 113182009 113182009 T C AP1AR Synonymous SNV I91I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.33 325167 chr6 51824680 51824680 - T rs746838237 PKHD1 Frameshift insertion L1966Tfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 325168 chr15 74290738 74290738 C T PML Nonsynonymous SNV R175C 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 325169 chr6 52355140 52355140 G A EFHC1 Nonsynonymous SNV V615I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 325170 chr7 107115416 107115416 G A GPR22 Nonsynonymous SNV R304Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 325171 chr7 107211675 107211675 A G rs776661698 DUS4L, DUS4L-BCAP29 Nonsynonymous SNV I68V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.398 325172 chr7 114269995 114270012 CAACAGCAGCAGCAGCAG - rs772134830 FOXP2 Q186_Q191del 0 0 0.003 0 0 0 0 1 0 0 0 0 325173 chr4 144498800 144498800 C T rs184925770 FREM3 Synonymous SNV T2128T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.02 325174 chr4 147560536 147560536 G A rs760756175 POU4F2 Nonsynonymous SNV G82R 0 0 0 1 0 0 0.003 0 0 0 0 0 25 325175 chr4 166935662 166935662 G A rs377432062 TLL1 Nonsynonymous SNV R331H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.6 325176 chr17 42847365 42847365 G A rs199577233 ADAM11 Synonymous SNV S110S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.051 325177 chr4 169296632 169296632 T C rs754762490 DDX60L Nonsynonymous SNV Y1510C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 9.974 325178 chr7 135304281 135304281 A G rs763190238 NUP205 Synonymous SNV S1000S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.375 325179 chr4 183574978 183574978 T C rs753220175 TENM3 Nonsynonymous SNV F348S 0 0 0 1 0 0 0.003 0 0 0 0 0 25 325180 chr4 183675915 183675915 C T rs201867735 TENM3 Synonymous SNV Y1465Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.664 325181 chr15 91491982 91491982 G C rs770077776 UNC45A Synonymous SNV L467L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.428 325182 chr15 91493732 91493732 C T UNC45A Synonymous SNV I585I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.89 325183 chr18 23670477 23670477 A T rs771615030 SS18 Synonymous SNV A19A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.539 325184 chr7 148950994 148950994 C T rs200865885 ZNF212 Nonsynonymous SNV R326C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 325185 chr18 72228165 72228165 C T rs34522443 CNDP1 Synonymous SNV T126T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.27 325186 chr18 74090962 74090962 G A rs749967508 ZNF516 Synonymous SNV P1036P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.56 325187 chr17 57763064 57763064 C T rs367867382 CLTC Synonymous SNV Y1578Y 0.002 0.003 0.003 0 2 1 0 1 0 0 0 0 13.32 325188 chr18 43843020 43843020 C T C18orf25 Nonsynonymous SNV S323L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 325189 chr18 9887416 9887416 A C rs2240909 TXNDC2 Nonsynonymous SNV I314L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 325190 chr18 9887429 9887429 C T rs2240908 TXNDC2 Nonsynonymous SNV P318L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 325191 chr7 156762226 156762226 A G rs117237197 NOM1 Synonymous SNV V805V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.617 325192 chr16 20335264 20335264 C T rs145297751 GP2 Nonsynonymous SNV A137T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 325193 chr19 10395793 10395793 C T rs369459423 ICAM1 Nonsynonymous SNV P477S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 325194 chr5 36136522 36136522 T A LMBRD2 Synonymous SNV S212S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.059 325195 chr5 37875430 37875430 G T rs1040992045 GDNF-AS1 0 0 0 1 0 0 0.003 0 0 0 0 0 4.082 325196 chr5 39342214 39342214 G T rs34000044 C9 Stop gain C54X 0 0 0 1 0 0 0.003 0 0 0 0 0 Pathogenic/Likely pathogenic 35 325197 chr16 21213571 21213571 C T rs745840756 ZP2 Nonsynonymous SNV E381K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 325198 chr16 24580659 24580659 A G rs372220603 RBBP6 Nonsynonymous SNV Y849C 0.001 0 0 0 1 0 0 0 0 0 0 0 22 325199 chr7 30890080 30890080 C G rs776055715 MINDY4 Nonsynonymous SNV P486A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 325200 chr19 13223594 13223594 C T TRMT1 Synonymous SNV L265L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.65 325201 chr5 57790469 57790469 C T rs761514665 GAPT Nonsynonymous SNV R36C 0 0 0 1 0 0 0.003 0 0 0 0 0 12.94 325202 chr7 37988477 37988477 T C rs374633177 EPDR1 Nonsynonymous SNV V41A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 325203 chr16 31012480 31012480 G A rs200979563 STX1B Nonsynonymous SNV S47L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 325204 chr7 44555699 44555699 A T rs52815063 NPC1L1 Nonsynonymous SNV I1206N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.3 325205 chr7 44573114 44573114 G A rs137889714 NPC1L1 Synonymous SNV T775T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.594 325206 chr17 73747174 73747174 C T rs61735290 ITGB4 Synonymous SNV L1259L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.47 325207 chr5 74998501 74998501 C T rs200926172 POC5 Nonsynonymous SNV D123N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 325208 chr19 17270261 17270261 C T rs568709525 MYO9B Synonymous SNV N462N 0 0.003 0 0 0 1 0 0 0 0 0 0 18.77 325209 chr5 80088565 80088565 G C rs200185323 MSH3 Nonsynonymous SNV E853Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.9 325210 chr7 6194575 6194575 C G rs777189772 USP42 Nonsynonymous SNV D1130E 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 325211 chr5 82815720 82815720 A C rs369333149 VCAN Nonsynonymous SNV E532A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 325212 chr19 17728620 17728620 G A rs767060906 UNC13A Synonymous SNV T1483T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 325213 chr16 49407930 49407930 G A rs144505396 C16orf78 Nonsynonymous SNV R27H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 325214 chr7 75694142 75694142 G A rs201168852 MDH2 Synonymous SNV A210A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.421 325215 chr19 1785664 1785664 A G rs763935707 ATP8B3 Nonsynonymous SNV V1029A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 325216 chr5 96139107 96139107 T A rs141992697 ERAP1 Nonsynonymous SNV R175W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 325217 chr7 86542438 86542438 C G KIAA1324L Nonsynonymous SNV R365P 0 0 0.003 0 0 0 0 1 0 0 0 0 34 325218 chr19 18327660 18327660 T C PDE4C Nonsynonymous SNV N228S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.07 325219 chr19 14581467 14581467 G A rs368644715 PKN1 Synonymous SNV S839S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.239 325220 chr16 66600642 66600642 G A rs371441957 CMTM1 Nonsynonymous SNV A76T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.86 325221 chr7 98775629 98775629 T C KPNA7 Nonsynonymous SNV I460V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.086 325222 chr8 10177393 10177393 G A rs765064285 MSRA Nonsynonymous SNV G106D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 325223 chr8 10480210 10480210 C T RP1L1 Nonsynonymous SNV V168M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.51 325224 chr7 47876614 47876614 G A rs150562937 PKD1L1 Nonsynonymous SNV R1950C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 325225 chr5 137501726 137501726 T C rs760137740 BRD8 Nonsynonymous SNV S316G 0 0 0 1 0 0 0.003 0 0 0 0 0 23 325226 chr16 74983666 74983666 G T rs138295398 WDR59 Nonsynonymous SNV D119E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.73 325227 chr16 76569512 76569512 G A rs202003643 CNTNAP4 Synonymous SNV L813L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.17 325228 chr8 120252473 120252473 A G rs376878049 MAL2 Synonymous SNV T124T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.9 325229 chr18 28714090 28714090 T G DSC1 Nonsynonymous SNV K627T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.17 325230 chr8 130789774 130789774 G A rs748144989 GSDMC Synonymous SNV D20D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.409 325231 chr8 133092106 133092106 A G rs377366447 HHLA1 Nonsynonymous SNV S262P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.96 325232 chr8 133142182 133142182 C T rs532323444 KCNQ3 Nonsynonymous SNV R529Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.58 325233 chr7 73254871 73254871 A G rs61741292 METTL27 Synonymous SNV A87A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.72 325234 chr5 138728924 138728924 C T rs937305971 PROB1 Nonsynonymous SNV R616H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 325235 chr5 139745504 139745504 C T rs201085517 SLC4A9 Nonsynonymous SNV T585I 0 0 0 1 0 0 0.003 0 0 0 0 0 20.3 325236 chr8 142228842 142228842 G A rs61995886 SLC45A4 Synonymous SNV D248D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.602 325237 chr16 85945236 85945236 G A rs372863612 IRF8 Nonsynonymous SNV R150H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 9.774 325238 chr5 149310686 149310686 T C rs757371264 PDE6A Nonsynonymous SNV I255V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.8 325239 chr8 142367138 142367138 C T rs201215470 GPR20 Nonsynonymous SNV V296I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 325240 chr8 143562905 143562905 C A ADGRB1 Synonymous SNV R655R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.3 325241 chr19 40519811 40519811 G C ZNF546 Nonsynonymous SNV A186P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 325242 chr7 96810337 96810343 CGTTATT - SDHAF3 A63Gfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 325243 chr7 96810346 96810346 A T SDHAF3 Nonsynonymous SNV Q66L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.03 325244 chr8 144943101 144943101 C T EPPK1 Nonsynonymous SNV E1441K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.6 325245 chr7 99091624 99091624 T C rs756981612 ZNF394 Nonsynonymous SNV Q405R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 325246 chr7 100014072 100014072 C A rs6957339 ZCWPW1 Nonsynonymous SNV V163L 0.001 0 0 0 1 0 0 0 0 0 0 0 18.74 325247 chr19 42482888 42482888 G A rs146606627 ATP1A3 Synonymous SNV A511A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 12.73 325248 chr17 10355646 10355646 G T rs16943441 MYH4 Nonsynonymous SNV A1117D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 325249 chr17 10356577 10356577 C G rs138556802 MYH4 Nonsynonymous SNV K1001N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 325250 chr17 10415826 10415826 C T rs143556595 MYH1 Nonsynonymous SNV R349K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.409 325251 chr17 10416021 10416021 G C rs138473189 MYH1 Nonsynonymous SNV Q329E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.273 325252 chr5 176316395 176316395 G A rs73341831 HK3 Nonsynonymous SNV P301S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 325253 chr19 44536949 44536949 C T rs149108729 ZNF222 Synonymous SNV C414C 0 0.003 0 0 0 1 0 0 0 0 0 0 13.03 325254 chr8 1806213 1806213 C T rs775076236 ARHGEF10 Nonsynonymous SNV A42V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 325255 chr18 76903810 76903810 C A rs150886193 ATP9B Nonsynonymous SNV Q226K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 325256 chr8 27898721 27898721 C T rs115284526 NUGGC Synonymous SNV L486L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.523 325257 chr19 46733750 46733750 C T rs190483911 IGFL1 Nonsynonymous SNV T100I 0 0.003 0 0 0 1 0 0 0 0 0 0 4.942 325258 chr7 100612941 100612941 T C MUC12 Nonsynonymous SNV L13P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.247 325259 chr19 46305507 46305507 C T rs138318118 RSPH6A Nonsynonymous SNV V557M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 325260 chr6 11104759 11104759 A G rs779404885 ERVFRD-1 Nonsynonymous SNV I262T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.76 325261 chr19 47910727 47910727 C T rs758559578 MEIS3 Nonsynonymous SNV G319S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.96 325262 chr8 37729690 37729690 G A RAB11FIP1 Nonsynonymous SNV A877V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 325263 chr8 38065117 38065117 T G rs537081631 BAG4 Nonsynonymous SNV Y120D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 325264 chr19 1108229 1108229 G A rs753053498 SBNO2 Nonsynonymous SNV A1307V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 325265 chr19 47981024 47981024 G A KPTN Nonsynonymous SNV P212S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.572 325266 chr8 52721789 52721789 T C rs369904284 PXDNL Nonsynonymous SNV H39R 0 0 0.007 0 0 0 0 2 0 0 0 0 0.007 325267 chr19 50285030 50285030 G A rs373577861 AP2A1 Synonymous SNV A28A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.02 325268 chr8 8235191 8235191 G A rs201219172 PRAG1 Nonsynonymous SNV S243L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 325269 chr19 504811 504811 T C MADCAM1 Nonsynonymous SNV L245P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 325270 chr6 36178258 36178258 C T rs561673333 BRPF3 Nonsynonymous SNV P711L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 325271 chr8 99057278 99057278 G C RPL30 Synonymous SNV L20L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 325272 chr6 36688962 36688962 - AGGCTGCCTCCCCTGAGA rs376539816 RAB44 E356_E357insKAASPE 0 0 0 1 0 0 0.003 0 0 0 0 0 325273 chr9 100437771 100437771 G A rs188860873 XPA Nonsynonymous SNV R258C 0 0 0.003 0 0 0 0 1 0 0 0 0 not provided 34 325274 chr6 36690274 36690274 G A rs7772906 RAB44 Nonsynonymous SNV G788D 0 0 0 1 0 0 0.003 0 0 0 0 0 15.02 325275 chr19 51379793 51379793 C G rs768301295 KLK2 Nonsynonymous SNV P91R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 325276 chr7 141629949 141629949 T - rs538086213 CLEC5A C152Vfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 325277 chr6 35216446 35216446 C T SCUBE3 Synonymous SNV R981R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.4 325278 chr6 35478701 35478701 G T rs781263341 TULP1 Nonsynonymous SNV P93T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.735 325279 chr9 107547837 107547837 G C rs752981038 ABCA1 Nonsynonymous SNV A2162G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.07 325280 chr6 43276079 43276079 T A rs373796421 CRIP3 Nonsynonymous SNV I38F 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 325281 chr17 38976647 38976647 G A KRT10 Nonsynonymous SNV T299I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 325282 chr7 149499183 149499189 CCTGGGC - rs755295487 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 325283 chr6 47254025 47254025 G A rs148190245 TNFRSF21 Nonsynonymous SNV P135S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.33 325284 chr19 2040172 2040172 G A rs764536768 MKNK2 Nonsynonymous SNV A372V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 325285 chr19 49878053 49878053 G A rs111233735 DKKL1 Nonsynonymous SNV R135Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.3 325286 chr19 49965269 49965269 C T rs750590956 ALDH16A1 Synonymous SNV D296D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 325287 chr6 51613012 51613012 C T rs143737660 PKHD1 Synonymous SNV K3134K 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.53 325288 chr19 2434470 2434470 A T LMNB2 Nonsynonymous SNV M342K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 325289 chr6 65301397 65301397 T C rs183144150 EYS Nonsynonymous SNV I1455V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.269 325290 chr6 65327363 65327363 A G rs955526009 EYS Nonsynonymous SNV L1211P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 325291 chr9 125797310 125797310 A G GPR21 Synonymous SNV L155L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 325292 chr19 55832339 55832339 G A rs776897518 TMEM150B Synonymous SNV I22I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 325293 chr6 84872870 84872870 A G rs779747007 CEP162 Synonymous SNV Y759Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.114 325294 chr19 56223235 56223235 A G rs779210367 NLRP9 Nonsynonymous SNV L925S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 325295 chr9 136507569 136507569 C T rs751492654 DBH Nonsynonymous SNV R243W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 325296 chr6 97533135 97533135 T C KLHL32 Nonsynonymous SNV V113A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.968 325297 chr19 57175400 57175400 G C rs199864986 ZNF835 Synonymous SNV P389P 0.002 0 0 0 2 0 0 0 0 0 0 0 1.142 325298 chr9 139904780 139904780 C T ABCA2 Nonsynonymous SNV R2073H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 325299 chr8 29921431 29921431 - GATGCAGTTCTGGTTTTCGTGTCTGAGTTTGAACATACCGAATAGCTGCCCGAGCCTCCATGA SARAF 0.002 0 0 0 2 0 0 0 0 0 0 0 325300 chr8 29924436 29924436 - GTGAACTCAGACTTAAAGCCTGGGGGAGGAGGTCCTGCTGAGTTGGTGAATCTCTGGTAACGG SARAF 0.001 0.003 0 0 1 1 0 0 0 0 0 0 325301 chr8 29927576 29927576 - AGGGTCGTTCCAGCCCAGGGCAGGGCCCGCGGTCAGCAGAAACAAATGCAAGCCGAGGAGCAAGCAG SARAF 0.001 0 0 0 1 0 0 0 0 0 0 0 325302 chr8 37967907 37967907 C T rs368450890 ASH2L Nonsynonymous SNV P44S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 325303 chr9 2029139 2029139 C T rs760818868 SMARCA2 Synonymous SNV S39S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 325304 chr17 62496782 62496782 G A rs373141390 DDX5 Synonymous SNV Y442Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.037 325305 chr1 101379263 101379263 G A rs141366201 SLC30A7 Nonsynonymous SNV A186T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.086 325306 chr9 90401796 90401796 G A rs7866968 CTSL3P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.999 325307 chr9 90498092 90498092 G A rs146303708 SPATA31E1 Nonsynonymous SNV G96R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 325308 chr9 90582380 90582380 C T rs144686198 CDK20 Synonymous SNV G325G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.603 325309 chr6 166826265 166826265 C G rs34651286 RPS6KA2 Synonymous SNV T631T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.5 325310 chr6 170594101 170594101 G A rs143891309 DLL1 Synonymous SNV P385P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.899 325311 chrX 107084158 107084158 G A rs375584547 MID2 Nonsynonymous SNV R88Q 0 0 0.007 0 0 0 0 2 0 0 1 0 28.9 325312 chr7 1098132 1098132 G A rs199532031 GPR146 Synonymous SNV G327G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.526 325313 chrX 119005292 119005292 A T rs142377248 RNF113A Nonsynonymous SNV S95R 0 0 0.007 0 0 0 0 2 0 0 1 0 3.853 325314 chrX 144903983 144903983 G C SLITRK2 Nonsynonymous SNV A14P 0 0 0.007 0 0 0 0 2 0 0 1 0 16.93 325315 chr1 12065846 12065846 A G rs145654854 MFN2 Nonsynonymous SNV N525S 0 0.003 0.003 0 0 1 0 1 0 0 0 0 Uncertain significance 5.169 325316 chr7 8790881 8790881 C T rs771211259 NXPH1 Nonsynonymous SNV P100S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.38 325317 chr7 1579657 1579657 G - MAFK Q39Hfs*11 0 0 0 1 0 0 0.003 0 0 0 0 0 325318 chr1 110466624 110466624 A G rs34545271 CSF1 Nonsynonymous SNV S461G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 325319 chrX 30870904 30870904 C T rs771530217 TAB3 Synonymous SNV A567A 0 0 0.007 0 0 0 0 2 0 0 1 0 13.43 325320 chr7 21599345 21599345 T C rs368459116 DNAH11 Nonsynonymous SNV S273P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.434 325321 chrX 48752746 48752746 A G TIMM17B Synonymous SNV S55S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.158 325322 chrX 75648770 75648770 C T rs782254685 MAGEE1 Synonymous SNV S149S 0 0 0.007 0 0 0 0 2 0 0 1 0 8.831 325323 chr7 27134326 27134326 C T rs143597165 HOXA1 Synonymous SNV E247E 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.984 325324 chr8 146156347 146156347 C T rs148102607 ZNF16 Nonsynonymous SNV G609D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 325325 chr7 30830869 30830869 T A rs199816608 MINDY4 Nonsynonymous SNV L251H 0 0 0 1 0 0 0.003 0 0 0 0 0 10.49 325326 chr9 711030 711030 C T rs143882652 KANK1 Synonymous SNV S88S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.32 325327 chr9 4576657 4576657 G A rs757336485 SLC1A1 Nonsynonymous SNV A363T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.1 325328 chr17 79985564 79985564 G A rs530380824 LRRC45 Nonsynonymous SNV R283H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 325329 chr10 104629862 104629862 A G AS3MT Nonsynonymous SNV K22E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 325330 chr7 43916618 43916618 T C rs372174530 URGCP Nonsynonymous SNV Y806C 0 0 0 1 0 0 0.003 0 0 0 0 0 3.58 325331 chr7 48390288 48390288 G A rs764681827 ABCA13 Nonsynonymous SNV R3418H 0 0 0 1 0 0 0.003 0 0 0 0 0 3.632 325332 chr7 51251824 51251824 T C rs139581493 COBL Nonsynonymous SNV K253R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 325333 chr1 11307896 11307896 T C MTOR Nonsynonymous SNV M366V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.217 325334 chr1 152082835 152082835 C A TCHH Nonsynonymous SNV R953L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 325335 chr18 29496246 29496246 T A TRAPPC8 Synonymous SNV G202G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.635 325336 chr19 55812988 55812988 A C rs772613846 BRSK1 Synonymous SNV R263R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.41 325337 chr7 78150902 78150902 G C rs780114111 MAGI2 Nonsynonymous SNV T200R 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 325338 chr19 56089910 56089910 C T ZNF579 Nonsynonymous SNV G366R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 325339 chr7 80141124 80141124 C T rs774080732 GNAT3 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 325340 chr10 17702547 17702547 G A STAM Nonsynonymous SNV G42E 0 0 0.003 0 0 0 0 1 0 0 0 0 26 325341 chr9 98877025 98877026 AG - LOC158434 0.001 0 0 0 1 0 0 0 0 0 0 0 325342 chr7 82585702 82585702 G A rs201756950 PCLO Nonsynonymous SNV P1523S 0 0 0 1 0 0 0.003 0 0 0 0 0 22 325343 chr7 87082340 87082340 C T rs147333055 ABCB4 Synonymous SNV K152K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 15.54 325344 chr1 150769278 150769278 C T rs761159349 CTSK Nonsynonymous SNV M329I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 325345 chr7 100283077 100283077 G A rs746880791 GIGYF1 Nonsynonymous SNV P361L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.34 325346 chr1 151860758 151860758 T C rs750176183 THEM4 Nonsynonymous SNV N183S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 325347 chr19 5787659 5787659 C T rs373231566 DUS3L Nonsynonymous SNV V143M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 325348 chr1 175956163 175956163 G A rs748408939 COP1 Synonymous SNV V443V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.57 325349 chr1 152883501 152883501 G A rs117106764 IVL Nonsynonymous SNV E410K 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 325350 chr19 622167 622167 G A rs142327145 POLRMT Synonymous SNV S611S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.596 325351 chr7 100281914 100281914 G A rs200730732 GIGYF1 Nonsynonymous SNV A559V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.39 325352 chr10 55582714 55582714 C T rs149384350 PCDH15 Nonsynonymous SNV R1551K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.3 325353 chr7 105660991 105660991 G A CDHR3 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 325354 chr10 63212847 63212847 G A rs750561920 TMEM26-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.9 325355 chr9 130428489 130428489 C T rs886063466 STXBP1 Synonymous SNV G236G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 325356 chr19 9056433 9056433 G C MUC16 Nonsynonymous SNV T10338S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 325357 chr7 117361139 117361139 G A CTTNBP2 Nonsynonymous SNV A1480V 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 325358 chr7 117368251 117368251 C T rs138985857 CTTNBP2 Nonsynonymous SNV R1298H 0 0 0 1 0 0 0.003 0 0 0 0 0 23 325359 chr10 72026149 72026149 T C rs199731225 NPFFR1 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 325360 chr7 100815366 100815366 G A NAT16 Synonymous SNV D368D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.465 325361 chr9 133554027 133554027 G C rs762081941 PRDM12 Nonsynonymous SNV E228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 325362 chr10 73591648 73591648 G A rs143981174 PSAP Synonymous SNV D68D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.35 325363 chr10 74100836 74100836 C T rs148088395 DNAJB12 Nonsynonymous SNV G184S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 325364 chr10 85997088 85997088 G T LRIT1 Nonsynonymous SNV F159L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 325365 chr9 135205231 135205231 T C rs188247474 SETX Nonsynonymous SNV Q585R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.2 325366 chr1 19422100 19422100 C T rs377022360 UBR4 Nonsynonymous SNV R4522Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 325367 chr7 141478450 141478450 C G TAS2R4 Synonymous SNV T54T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.513 325368 chr7 143175670 143175670 C G rs761823814 TAS2R41 Synonymous SNV S235S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.44 325369 chr9 138557177 138557177 G A rs374188235 LCN9 Nonsynonymous SNV E132K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.185 325370 chr1 2105427 2105427 C T rs142352833 PRKCZ Synonymous SNV D276D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.747 325371 chr10 99667804 99667804 G A rs769375436 CRTAC1 Synonymous SNV G272G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 325372 chr8 1814696 1814696 G T ARHGEF10 Nonsynonymous SNV D185Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 325373 chr11 1026431 1026431 G A rs372460335 MUC6 Synonymous SNV Y814Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.283 325374 chr1 2125162 2125162 G A rs748580410 FAAP20 Nonsynonymous SNV P84S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 325375 chr8 8748755 8748755 C T rs999279796 MFHAS1 Nonsynonymous SNV R605Q 0 0 0 1 0 0 0.003 0 0 0 0 0 27 325376 chr1 145608275 145608275 T G rs376550087 POLR3C Nonsynonymous SNV Y154S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 325377 chr1 150551792 150551792 T C rs757408948 MCL1 Nonsynonymous SNV D72G 0.002 0 0 0 2 0 0 0 0 0 0 0 0.816 325378 chr11 108153536 108153536 G C rs370974808 ATM Nonsynonymous SNV D1226H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26 325379 chr10 19464139 19464139 A T rs780493564 MALRD1 Nonsynonymous SNV L611F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.83 325380 chr11 108464156 108464158 CTT - rs780227354 EXPH5 K36del 0 0 0.003 0 0 0 0 1 0 0 0 0 325381 chr1 22149866 22149866 G A rs2229477 HSPG2 Synonymous SNV P4374P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.09 325382 chr1 22168843 22168843 C T rs2229490 HSPG2 Nonsynonymous SNV V2982I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.798 325383 chr11 111218520 111218520 C A MIR4491 0 0 0.003 0 0 0 0 1 0 0 0 0 4.354 325384 chr1 22198724 22198724 A G rs62642526 HSPG2 Synonymous SNV H1393H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5 325385 chr1 22199531 22199531 C T rs62642527 HSPG2 Nonsynonymous SNV V1284I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.036 325386 chr1 22207188 22207188 T G rs62642535 HSPG2 Nonsynonymous SNV Q654H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.001 325387 chr1 22987572 22987572 A G C1QB Nonsynonymous SNV N152S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.69 325388 chr1 2235395 2235395 C T SKI Nonsynonymous SNV P443L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.09 325389 chr8 6668838 6668838 A G XKR5 Synonymous SNV L648L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.235 325390 chr1 205496954 205496954 C T rs760917122 CDK18 Synonymous SNV A254A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.03 325391 chr1 20637126 20637126 C T VWA5B1 Nonsynonymous SNV A11V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 325392 chr11 118771939 118771939 G A BCL9L Nonsynonymous SNV P838L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 325393 chr11 121476178 121476178 G C rs148412508 SORL1 Nonsynonymous SNV V1616L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.29 325394 chr1 158262619 158262619 G T rs115248892 CD1C Nonsynonymous SNV V282L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.2 325395 chr1 243385067 243385067 T C rs995724222 CEP170 Nonsynonymous SNV T52A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.034 325396 chr1 23418068 23418068 G A rs145151005 LUZP1 Nonsynonymous SNV A896V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 325397 chr11 123900955 123900955 G A rs772941494 OR10G8 Nonsynonymous SNV C209Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 325398 chr8 41906349 41906349 T C rs747324153 KAT6A Synonymous SNV E49E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.019 325399 chr8 43155730 43155730 A G rs756226092 POTEA Nonsynonymous SNV K220E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.3 325400 chr8 54852179 54852179 C A rs998171987 RGS20 Nonsynonymous SNV P70H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.9 325401 chr8 68989642 68989642 G A rs767992923 PREX2 Nonsynonymous SNV R527H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 325402 chr1 24123371 24123371 C G rs3180549 GALE Nonsynonymous SNV G235A 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 325403 chr11 129782080 129782080 A G rs202214464 PRDM10 Nonsynonymous SNV V875A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 325404 chr1 24426249 24426249 G A rs116377849 MYOM3 Nonsynonymous SNV R193W 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 325405 chr1 228456385 228456385 G T rs749485410 OBSCN Synonymous SNV V1672V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.897 325406 chr10 88459051 88459051 G A rs868365512 LDB3 Nonsynonymous SNV E305K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.3 325407 chr11 22646483 22646483 C T FANCF Nonsynonymous SNV G292S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 325408 chr8 118819560 118819560 G A rs143881630 EXT1 Synonymous SNV P593P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 12.25 325409 chr1 29630421 29630421 C T rs559788899 PTPRU Nonsynonymous SNV P844L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely pathogenic 33 325410 chr11 247389 247389 C T rs200598221 PSMD13 Nonsynonymous SNV A172V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 325411 chr11 3242906 3242906 C A rs144556188 MRGPRG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.383 325412 chr8 131070220 131070220 C G rs202053207 ASAP1 Nonsynonymous SNV E1042Q 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 325413 chr1 36642154 36642154 C T rs780310575 MAP7D1 Nonsynonymous SNV P365L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.017 325414 chr1 3784594 3784594 C T rs747227784 DFFB Nonsynonymous SNV R187W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 325415 chr11 3849105 3849105 C T rs143155056 RHOG Synonymous SNV P88P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 325416 chr8 143625028 143625028 G A rs554127237 ADGRB1 Nonsynonymous SNV A1506T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.67 325417 chr11 47808090 47808090 A G rs146457879 NUP160 Nonsynonymous SNV F1255L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 325418 chr1 3394471 3394471 G A rs777039565 ARHGEF16 Synonymous SNV L502L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.377 325419 chr1 35476426 35476426 A T ZMYM6 Nonsynonymous SNV V425D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 325420 chr8 145008187 145008187 C T PLEC Synonymous SNV Q400Q 0 0 0 1 0 0 0.003 0 0 0 0 0 14.47 325421 chr19 49994043 49994043 G A rs369135455 RPL13A Synonymous SNV L27L 0.002 0 0 0 2 0 0 0 0 0 0 0 12.88 325422 chr1 39340258 39340258 T G GJA9 Nonsynonymous SNV I505L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.51 325423 chr8 145735790 145735790 G A rs749757086 MFSD3 Nonsynonymous SNV G244S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 325424 chr8 145773773 145773773 C T rs765814746 ARHGAP39 Nonsynonymous SNV A233T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 325425 chr9 376211 376211 A G rs550143471 DOCK8 Nonsynonymous SNV K636R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.7 325426 chr9 5069077 5069077 A G JAK2 Nonsynonymous SNV E312G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.88 325427 chr9 5757363 5757363 G A rs149164201 RIC1 Nonsynonymous SNV R598H 0.001 0 0 1 1 0 0.003 0 0 0 0 0 28.8 325428 chr9 13136090 13136090 C A MPDZ 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.2 325429 chr1 60366699 60366699 G A rs549562502 CYP2J2 Nonsynonymous SNV P423L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 325430 chr9 32633635 32633635 G C rs202136681 TAF1L Nonsynonymous SNV S648C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 325431 chr9 35386280 35386280 A G rs748932310 UNC13B Nonsynonymous SNV Q576R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 325432 chr9 36091190 36091190 G A rs746588440 RECK Nonsynonymous SNV S312N 0 0 0 1 0 0 0.003 0 0 0 0 0 15.69 325433 chr11 551209 551209 G A LRRC56 Nonsynonymous SNV A235T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 325434 chr11 609174 609174 C A PHRF1 Nonsynonymous SNV L1240M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.343 325435 chr1 75055517 75055517 C T rs774666353 ERICH3 Synonymous SNV P658P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.211 325436 chr1 46159308 46159308 T C rs200303361 TMEM69 Nonsynonymous SNV Y159H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 325437 chr9 74331442 74331442 G C CEMIP2 Nonsynonymous SNV T746S 0 0 0 1 0 0 0.003 0 0 0 0 0 23 325438 chr11 618674 618674 C T rs140290184 CDHR5 Nonsynonymous SNV G623S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 325439 chr1 75688085 75688085 C T rs749152541 SLC44A5 Nonsynonymous SNV R343Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 325440 chr1 91742558 91742558 A T rs150703340 HFM1 Nonsynonymous SNV H1151Q 0 0.003 0 0 0 1 0 0 0 0 0 0 1.011 325441 chr11 1028665 1028665 C G rs201137338 MUC6 Nonsynonymous SNV Q524H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.79 325442 chr9 35906589 35906589 - CCACCACCACCC rs752690865 HRCT1 H107_R108insHHPH 0 0 0 1 0 0 0.003 0 0 0 0 0 325443 chr11 61675621 61675621 C T rs763291599 RAB3IL1 Nonsynonymous SNV A104T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.068 325444 chr1 897021 897021 A G KLHL17 Nonsynonymous SNV E127G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 325445 chr9 111938887 111938887 G C EPB41L4B Synonymous SNV T859T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 325446 chr11 62406512 62406512 G A rs200232092 GANAB Nonsynonymous SNV P11L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 325447 chr9 115652238 115652238 C A rs764704312 SLC46A2 Nonsynonymous SNV A242S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 325448 chr19 42753270 42753270 G A ERF Synonymous SNV L257L 0 0 0 1 0 0 0.003 0 0 0 0 0 2.769 325449 chr19 42857210 42857210 C T rs771818419 MEGF8 Nonsynonymous SNV R1094W 0 0 0 1 0 0 0.003 0 0 0 0 0 32 325450 chr1 877597 877597 C T rs765880255 SAMD11 Synonymous SNV F317F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 325451 chr1 897298 897298 C T KLHL17 Synonymous SNV C194C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 325452 chr11 6567906 6567906 - AT DNHD1 Frameshift insertion R1913Hfs*36 0 0 0.003 0 0 0 0 1 0 0 0 0 325453 chr11 6567907 6567907 - CCCTACTGCA rs763993355 DNHD1 Frameshift insertion S1914Pfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 325454 chr20 17600992 17600992 G C rs114498635 RRBP1 Synonymous SNV L1177L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.408 325455 chr19 4504765 4504765 G A rs759916185 PLIN4 Synonymous SNV C1274C 0 0 0 1 0 0 0.003 0 0 0 0 0 5.563 325456 chr11 67187040 67187040 T C CARNS1 Nonsynonymous SNV V189A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 325457 chr11 68030090 68030107 TGGAGGCCGCAGTCGTAA - rs748557353 C11orf24 I119_S124del 0 0 0.003 0 0 0 0 1 0 0 0 0 325458 chr20 3210331 3210331 G T rs765804145 SLC4A11 Nonsynonymous SNV S489R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.99 325459 chr11 68704303 68704303 G A rs147954772 IGHMBP2 Synonymous SNV R785R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.75 325460 chr20 23066643 23066643 C G rs376412271 CD93 Nonsynonymous SNV V63L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 325461 chr19 46280688 46280688 C T rs779230589 DMPK Nonsynonymous SNV R259Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 325462 chr11 70281665 70281665 G A rs754487720 CTTN Synonymous SNV S531S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.759 325463 chr19 47778204 47778204 G A INAFM1 Nonsynonymous SNV G10S 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 325464 chr11 7531059 7531059 C T rs368370984 OLFML1 Synonymous SNV H147H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.164 325465 chr11 76833666 76833666 C T rs190746597 CAPN5 Nonsynonymous SNV R550C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 325466 chr11 76873244 76873244 G A rs201332147 MYO7A Synonymous SNV Q474Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.513 325467 chr11 76873949 76873949 C T rs111033228 MYO7A Synonymous SNV N535N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.79 325468 chr1 39893809 39893809 A C rs759317601 MACF1 Synonymous SNV L3489L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.189 325469 chr11 7847087 7847087 C G rs760247290 OR5P3 Nonsynonymous SNV V145L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 325470 chr20 39990960 39990960 C T rs142271291 EMILIN3 Nonsynonymous SNV G417R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 325471 chr9 139272256 139272256 G A rs199498252 SNAPC4 Synonymous SNV A1341A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.114 325472 chr9 140087012 140087012 - TCCTCT rs767775589 TPRN E621_G622insEE 0 0 0 1 0 0 0.003 0 0 0 0 0 325473 chr1 11148238 11148238 T A rs142336238 EXOSC10 Nonsynonymous SNV Q259L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 325474 chr10 5415962 5415962 C A rs782031677 UCN3 Synonymous SNV T93T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.302 325475 chr11 27397906 27397906 C T rs371443871 LGR4 Nonsynonymous SNV R350H 0.001 0 0 0 1 0 0 0 0 0 0 0 22 325476 chr11 31454081 31454081 G T IMMP1L Nonsynonymous SNV A156D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 325477 chr20 57268827 57268827 A G rs748268954 NPEPL1 Nonsynonymous SNV N62S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.019 325478 chr20 57274321 57274321 G A rs41296213 NPEPL1 Synonymous SNV T222T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.343 325479 chr20 61936863 61936863 C T rs371649528 COL20A1 Synonymous SNV F96F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.19 325480 chr20 62187079 62187079 C T FNDC11 Synonymous SNV F21F 0 0.003 0 0 0 1 0 0 0 0 0 0 1.135 325481 chr12 110182027 110182027 C T FAM222A Nonsynonymous SNV R26C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 325482 chr10 15646223 15646223 A T rs749997097 ITGA8 Nonsynonymous SNV I686N 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 325483 chr9 138830109 138830109 G A rs759192500 UBAC1 Nonsynonymous SNV P354L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 325484 chr9 139231489 139231489 G A rs150064893 GPSM1 Nonsynonymous SNV D180N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.8 325485 chr20 61444088 61444088 C T rs374043529 OGFR Nonsynonymous SNV P374L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.431 325486 chr12 113355454 113355454 C T OAS1 Synonymous SNV Y329Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.379 325487 chr12 113355455 113355455 C T rs1804488 OAS1 Nonsynonymous SNV P330S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.967 325488 chr1 63284886 63284886 - T rs34243881 ATG4C Frameshift insertion W203Lfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 325489 chr12 113537758 113537758 C T rs368185324 RASAL1 Synonymous SNV A769A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 325490 chr10 24884717 24884717 C T rs894882365 ARHGAP21 Nonsynonymous SNV R1001Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.9 325491 chr10 7409651 7409651 C G rs373709864 SFMBT2 Synonymous SNV G132G 0 0 0 1 0 0 0.003 0 0 0 0 0 8.237 325492 chr20 62187521 62187521 G A rs749910389 FNDC11 Nonsynonymous SNV V169I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 325493 chr1 154574894 154574894 A C rs886045345 ADAR Nonsynonymous SNV F75C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 325494 chr19 58452525 58452525 C T rs144766086 ZNF256 Nonsynonymous SNV E551K 0 0 0 1 0 0 0.003 0 0 0 0 0 18.73 325495 chr10 70056675 70056675 C T rs751231804 PBLD Nonsynonymous SNV R51Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.3 325496 chr12 2786879 2786879 A G CACNA1C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.189 325497 chr21 47662901 47662901 A - MCM3AP-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 325498 chr19 6361685 6361685 C T rs776759641 CLPP Nonsynonymous SNV P34S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 0.051 325499 chr10 72513704 72513704 C T rs539379037 ADAMTS14 Stop gain R960X 0 0 0 1 0 0 0.003 0 0 0 0 0 44 325500 chr12 3129938 3129938 C T rs765047253 TEAD4 Nonsynonymous SNV T112M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 325501 chr12 3392223 3392223 G A rs149866702 TSPAN9 Nonsynonymous SNV A221T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 325502 chr21 42647455 42647455 C T BACE2 Synonymous SNV I437I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 325503 chr1 160461093 160461093 C T SLAMF6 Synonymous SNV E45E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 325504 chr11 59573864 59573864 T C MRPL16 Nonsynonymous SNV K238E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.47 325505 chr10 92638867 92638867 T C rs147125295 RPP30 Synonymous SNV F106F 0 0 0 1 0 0 0.003 0 0 0 0 0 4.032 325506 chr11 61539096 61539096 C G rs143144043 MYRF Nonsynonymous SNV P289A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 325507 chr22 17577965 17577965 C T rs143008696 IL17RA Nonsynonymous SNV T51M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.989 325508 chr11 62400107 62400107 C T rs144118755 GANAB Nonsynonymous SNV R195H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 325509 chr11 62678195 62678195 G A rs566585504 CHRM1 Synonymous SNV S126S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 325510 chr11 62996965 62996965 G C rs753160640 SLC22A25 Nonsynonymous SNV L54V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.34 325511 chr11 65617433 65617433 C T SNX32 Nonsynonymous SNV R62W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 325512 chr10 105158188 105158188 C T rs560438483 PDCD11 Nonsynonymous SNV A2V 0 0 0 1 0 0 0.003 0 0 0 0 0 28.3 325513 chr12 57554850 57554850 C G LRP1 Synonymous SNV A718A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.94 325514 chr12 58122067 58122067 A C AGAP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 325515 chr12 65564431 65564431 G T LEMD3 Nonsynonymous SNV S352I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 325516 chr22 31971342 31971342 A G SFI1 Nonsynonymous SNV M268V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.134 325517 chr12 6788657 6788657 C T rs140908287 ZNF384 Synonymous SNV P10P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 325518 chr1 110754707 110754707 G A KCNC4 Nonsynonymous SNV A196T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.109 325519 chr12 6961427 6961427 C T USP5 Synonymous SNV D28D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 325520 chr12 7843228 7843228 G A GDF3 Nonsynonymous SNV S114F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 325521 chr22 46688771 46688771 T C TTC38 Nonsynonymous SNV L467P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 325522 chr10 126716006 126716006 C T rs369168966 CTBP2 Nonsynonymous SNV R108Q 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 325523 chr10 127431807 127431807 - C EDRF1 Frameshift insertion M818Hfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 325524 chr10 127431809 127431809 - G EDRF1 Frameshift insertion M818Sfs*10 0 0 0 1 0 0 0.003 0 0 0 0 0 325525 chr1 201288975 201288975 C T rs749251560 PKP1 Nonsynonymous SNV L422F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.637 325526 chr10 131641461 131641461 C T rs370927134 EBF3 Synonymous SNV V369V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.27 325527 chr1 204198082 204198082 C T rs200106326 PLEKHA6 Nonsynonymous SNV V912M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 325528 chr10 129901877 129901877 T G rs139981632 MKI67 Nonsynonymous SNV T2383P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.88 325529 chr2 109746462 109746462 G A rs773537469 SH3RF3 Nonsynonymous SNV A156T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.11 325530 chr2 149837921 149837921 G A KIF5C Nonsynonymous SNV R472H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 325531 chr21 47588562 47588562 G A rs919258004 SPATC1L Synonymous SNV F68F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.731 325532 chr13 35517006 35517006 G A NBEA Nonsynonymous SNV V17M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 325533 chr13 41642756 41642756 A G rs369882285 WBP4 Nonsynonymous SNV N108D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.06 325534 chr13 49030423 49030423 C T rs587778641 RB1 Nonsynonymous SNV T633I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.8 325535 chr11 2185580 2185580 G A rs575305786 TH Synonymous SNV F459F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.72 325536 chr13 77672202 77672202 T C rs745847403 MYCBP2 Synonymous SNV E3029E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.593 325537 chr13 79190538 79190538 T A OBI1 Nonsynonymous SNV E453V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 325538 chr14 101531657 101531657 C T MIR409 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 325539 chr14 105054209 105054209 G A rs770313320 C14orf180 Nonsynonymous SNV V79I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.38 325540 chr2 185798364 185798364 G A rs145158210 ZNF804A Nonsynonymous SNV R97Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325541 chr11 4928755 4928755 G T OR51A7 Nonsynonymous SNV E52D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 325542 chr2 20178537 20178537 C T rs372028990 WDR35 Synonymous SNV G137G 0 0.003 0 0 0 1 0 0 0 0 0 0 17.54 325543 chr11 6549991 6549991 C T DNHD1 Synonymous SNV L693L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.44 325544 chr22 44229531 44229531 C A rs913655527 SULT4A1 Nonsynonymous SNV D198Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325545 chr2 203500098 203500098 G A rs561348639 FAM117B Nonsynonymous SNV G63D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 325546 chr2 203500099 203500099 C T rs573110708 FAM117B Synonymous SNV G63G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 325547 chr14 23854125 23854125 A G rs926353698 MYH6 Synonymous SNV D1763D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.678 325548 chr14 24610151 24610151 G C rs773247890 EMC9 Synonymous SNV A74A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 325549 chr14 24619531 24619531 G C rs762882834 RNF31 Nonsynonymous SNV Q206H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 325550 chr14 24642336 24642336 G A rs372055976 REC8 Synonymous SNV E90E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 325551 chr2 207634842 207634842 T C rs765812078 FASTKD2 Nonsynonymous SNV C269R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.48 325552 chr2 21236330 21236330 G - APOB S1307Pfs*4 0 0.003 0 0 0 1 0 0 0 0 0 0 325553 chr12 21242911 21242911 T A rs200519879 SLCO1B3-SLCO1B7, SLCO1B7 Nonsynonymous SNV F598L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.079 325554 chr22 50659698 50659698 T C rs368098807 TUBGCP6 Synonymous SNV S1030S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.273 325555 chr11 9225550 9225550 G A rs533987270 DENND5A Synonymous SNV Y178Y 0 0 0 1 0 0 0.003 0 0 0 0 0 5.392 325556 chr12 26348743 26348743 C G SSPN Synonymous SNV T46T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 325557 chr2 101656748 101656748 C T rs34425369 TBC1D8 Synonymous SNV T309T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.24 325558 chr2 101670676 101670676 G A rs78556703 TBC1D8 Synonymous SNV V160V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.19 325559 chr11 17629851 17629851 C A OTOG Nonsynonymous SNV P1401T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.504 325560 chr11 18057528 18057528 A G TPH1 Synonymous SNV D93D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.572 325561 chr11 19167805 19167805 C T rs190566144 ZDHHC13 Nonsynonymous SNV S84L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 325562 chr1 36645558 36645558 A G rs769666030 MAP7D1 Nonsynonymous SNV N764S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 325563 chr14 75514316 75514316 A G rs143573376 MLH3 Synonymous SNV Y681Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.003 325564 chr2 232392835 232392835 C G rs768168783 NMUR1 Synonymous SNV L299L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.21 325565 chr1 44456112 44456112 C T rs772358876 B4GALT2 Nonsynonymous SNV R371W 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 325566 chr2 152319420 152319420 T C rs774881596 RIF1 Nonsynonymous SNV I1129T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 325567 chr2 228197305 228197305 - AGCAGTTGGCAGAC MFF 0.001 0 0 0 1 0 0 0 0 0 0 0 325568 chr12 56398266 56398266 G A SUOX Nonsynonymous SNV V365M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 325569 chr1 22927203 22927203 G A rs760332050 EPHA8 Nonsynonymous SNV R813H 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 325570 chr2 27360456 27360456 C G PRR30 Nonsynonymous SNV E248Q 0 0.003 0 0 0 1 0 0 0 0 0 0 25.7 325571 chr12 64502753 64502755 CTC - rs771984307 SRGAP1 L598del 0.001 0 0 0 1 0 0 0 0 0 0 0 325572 chr15 27777896 27777896 A G rs76638728 GABRG3 Nonsynonymous SNV K425E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.171 325573 chr15 31294573 31294573 G A rs3784587 TRPM1 Nonsynonymous SNV R1461C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 17.22 325574 chr12 69983307 69983307 G A rs138151014 CCT2 Synonymous SNV A116A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.05 325575 chr2 33482400 33482400 C T rs750719026 LTBP1 Synonymous SNV G413G 0 0.003 0 0 0 1 0 0 0 0 0 0 16.32 325576 chr2 26410235 26410235 A G rs906994356 GAREM2 Synonymous SNV T578T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 325577 chr15 42147077 42147077 - G rs763599351 SPTBN5 Frameshift insertion R3174Pfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 325578 chr15 42986251 42986251 A G rs947635823 STARD9 Nonsynonymous SNV T4159A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 325579 chr15 43011110 43011110 T A STARD9 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 325580 chr15 43022916 43022916 T C CDAN1 Nonsynonymous SNV Q685R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.098 325581 chr15 45412823 45412823 C T rs147223934 DUOXA1 Nonsynonymous SNV R129H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 325582 chr2 32289137 32289137 C T SPAST Synonymous SNV C79C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 325583 chr11 58919973 58919973 G C rs764421917 FAM111A Nonsynonymous SNV A278P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 325584 chr2 54482081 54482081 - T rs760153989 TSPYL6 Frameshift insertion R403Kfs*35 0.001 0 0 0 1 0 0 0 0 0 0 0 325585 chr2 63283062 63283062 G A rs61742369 OTX1 Nonsynonymous SNV G226S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.81 325586 chr2 39456559 39456559 C T rs141333215 CDKL4 Nonsynonymous SNV E39K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 325587 chr15 58830592 58830592 C T rs201591235 LIPC Nonsynonymous SNV T50I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 325588 chr2 43927661 43927661 T A rs774371877 PLEKHH2 Nonsynonymous SNV S522T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.368 325589 chr2 44209427 44209427 C T rs201021305 LRPPRC Nonsynonymous SNV R99H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 325590 chr15 64458262 64458262 T G CSNK1G1 Nonsynonymous SNV K411T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 325591 chr11 62343648 62343648 G A rs773797854 TUT1 Nonsynonymous SNV A495V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 325592 chr1 26161800 26161800 G A rs201681174 AUNIP Nonsynonymous SNV S253F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.13 325593 chr15 65425377 65425377 C G PDCD7 Nonsynonymous SNV R248P 0 0 0.003 0 0 0 0 1 0 0 0 0 28 325594 chr1 26595039 26595039 C G CEP85 Nonsynonymous SNV N418K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 325595 chr2 74177751 74177751 C T DGUOK Synonymous SNV L64L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.01 325596 chr2 74329152 74329152 G C rs190925009 TET3 Nonsynonymous SNV W1653S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 325597 chr15 75144518 75144518 A C rs772065533 SCAMP2 Nonsynonymous SNV S79A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 325598 chr2 210685316 210685316 - GATGGAGGAGGTGGAGGAGGT UNC80 G762_G763insDGGGGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 325599 chr15 78346421 78346421 T C TBC1D2B Nonsynonymous SNV T157A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 325600 chr3 105495288 105495288 A T rs750944357 CBLB Nonsynonymous SNV I201N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.9 325601 chr2 97217889 97217889 G A rs199508384 ARID5A Nonsynonymous SNV A378T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 325602 chr2 217332750 217332750 C T rs2271336 SMARCAL1 Nonsynonymous SNV T742M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.52 325603 chr2 75893162 75893162 T C GCFC2 Synonymous SNV P538P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.789 325604 chr11 67225988 67225988 C T rs201724401 CABP4 Synonymous SNV D161D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.029 325605 chr1 38328104 38328104 T G rs370532382 INPP5B 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 325606 chr3 100964780 100964780 A G IMPG2 Nonsynonymous SNV M470T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.642 325607 chr15 83330652 83330652 C T rs764083003 AP3B2 Nonsynonymous SNV V25I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 325608 chr3 101384133 101384133 G A rs926497302 ZBTB11 Nonsynonymous SNV T433I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 325609 chr15 83331452 83331452 C T rs750043916 AP3B2 Nonsynonymous SNV E892K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 325610 chr11 67848878 67848878 T C rs201758584 CHKA Nonsynonymous SNV E170G 0 0 0 1 0 0 0.003 0 0 0 0 0 18.99 325611 chr11 68216526 68216526 G A rs765958012 LRP5 Synonymous SNV T1031T 0 0 0 1 0 0 0.003 0 0 0 0 0 9.393 325612 chr2 220100227 220100227 G A ANKZF1 Nonsynonymous SNV A365T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 325613 chr11 73022428 73022428 G A rs760691466 ARHGEF17 Synonymous SNV P915P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.87 325614 chr3 120130760 120130760 T A FSTL1 Nonsynonymous SNV H80L 0 0.003 0 0 0 1 0 0 0 0 0 0 32 325615 chr11 75136574 75136574 C G rs762831462 KLHL35 Nonsynonymous SNV R413P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 325616 chr3 100539943 100539943 G A rs190140224 ABI3BP Nonsynonymous SNV L834F 0.001 0 0 0 1 0 0 0 0 0 0 0 7.189 325617 chr3 114026820 114026820 G T rs751596536 TIGIT Nonsynonymous SNV A193S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.085 325618 chr11 82644160 82644160 A G rs757519018 DDIAS Nonsynonymous SNV T594A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.124 325619 chr11 92087650 92087650 G A rs199786266 FAT3 Nonsynonymous SNV R791Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.3 325620 chr16 1116148 1116148 C T rs567376288 SSTR5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.081 325621 chr3 124952463 124952463 T C rs769802013 ZNF148 Synonymous SNV P369P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.306 325622 chr3 113376142 113376142 G - USF3 Q1463Sfs*20 0.001 0 0 0 1 0 0 0 0 0 0 0 325623 chr3 113376144 113376145 TG - USF3 Q1462Afs*46 0.001 0 0 0 1 0 0 0 0 0 0 0 325624 chr3 127323768 127323768 G A rs760067459 MCM2 Nonsynonymous SNV A148T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.257 325625 chr20 47246087 47246087 C T rs143436660 PREX1 Nonsynonymous SNV A1556T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.018 325626 chr20 47835953 47835953 G A rs141661734 DDX27 Nonsynonymous SNV V21M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.156 325627 chr2 238280539 238280539 T A rs766488017 COL6A3 Nonsynonymous SNV D767V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 325628 chr3 121421335 121421335 A G rs114886023 GOLGB1 Synonymous SNV A424A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 10.43 325629 chr2 241728699 241728699 G A rs182395595 KIF1A Nonsynonymous SNV T46M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.9 325630 chr16 2203334 2203334 G A rs149402189 RAB26 Nonsynonymous SNV R228H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 325631 chr16 23614802 23614802 A G rs180177139 PALB2 Nonsynonymous SNV I1180T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.7 325632 chr3 128664119 128664119 C T KIAA1257 Nonsynonymous SNV A394T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 325633 chr16 2578607 2578607 G C rs139057608 AMDHD2 Nonsynonymous SNV Q339H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.812 325634 chr16 2579092 2579092 C T rs140129364 AMDHD2 Synonymous SNV D409D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 325635 chr16 28601713 28601713 C T rs528268430 SGF29 Synonymous SNV D172D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 325636 chr3 149485783 149485783 G A ANKUB1 Synonymous SNV V222V 0 0.003 0 0 0 1 0 0 0 0 0 0 10.67 325637 chr11 118919533 118919535 CTT - rs782290466 HYOU1 K686del 0 0 0 1 0 0 0.003 0 0 0 0 0 325638 chr1 8384648 8384648 C T SLC45A1 Synonymous SNV L87L 0 0 0 1 0 0 0.003 0 0 0 0 0 10.86 325639 chr16 30380660 30380660 G A rs779005304 TBC1D10B Nonsynonymous SNV S282F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 325640 chr16 30566788 30566788 C G ZNF764 Synonymous SNV P317P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 325641 chr11 121416122 121416122 C G SORL1 Nonsynonymous SNV R679G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.4 325642 chr16 31475766 31475766 C T rs367648554 ARMC5 Synonymous SNV P474P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 325643 chr13 114307382 114307382 A G rs764615168 ATP4B Nonsynonymous SNV S121P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 325644 chr11 124440112 124440112 G A rs747111282 OR8A1 Nonsynonymous SNV G33R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 325645 chr11 124487352 124487352 C T rs147550190 PANX3 Synonymous SNV S169S 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 325646 chr11 120097541 120097541 T C OAF Nonsynonymous SNV V128A 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 325647 chr11 129814810 129814810 C G rs148466018 PRDM10 Synonymous SNV A120A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.48 325648 chr3 184570306 184570306 C G rs370026889 VPS8 Nonsynonymous SNV L245V 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 325649 chr21 35144515 35144515 G A rs533840234 ITSN1 Nonsynonymous SNV R398H 0.001 0 0 0 1 0 0 0 0 0 0 0 24 325650 chr3 184049089 184049089 C T rs777853448 EIF4G1 Synonymous SNV A1204A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 325651 chr12 2975620 2975620 A G rs747566493 FOXM1 Nonsynonymous SNV V304A 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 325652 chr16 66514720 66514720 C A BEAN1 Synonymous SNV P115P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 325653 chr16 67577064 67577064 A C rs756589299 RIPOR1 Nonsynonymous SNV E796A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 325654 chr16 67862606 67862606 G C rs745357649 CENPT Nonsynonymous SNV P474R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 325655 chr16 67876779 67876784 CAGCAG - rs764262313 THAP11 Q131_Q132del 0 0 0.003 0 0 0 0 1 0 0 0 0 325656 chr2 85553721 85553721 G A TGOLN2 Synonymous SNV G378G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.076 325657 chr2 99689511 99689511 T C rs35465451 TSGA10 Nonsynonymous SNV N303S 0.001 0 0.003 0 1 0 0 1 0 0 0 0 8.258 325658 chr3 101573422 101573422 G T rs141360195 NFKBIZ Synonymous SNV T446T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.48 325659 chr21 47971770 47971770 G T rs369963341 DIP2A Nonsynonymous SNV A991S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 325660 chr14 58924528 58924528 G A rs779792778 KIAA0586 Nonsynonymous SNV V332I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 325661 chr16 82197748 82197748 C A MPHOSPH6 Stop gain E35X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 325662 chr16 841216 841216 G T CHTF18 Nonsynonymous SNV G317V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 325663 chr14 60976548 60976548 C T rs757769585 SIX6 Synonymous SNV R144R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 325664 chr16 84476132 84476132 A C rs374381332 ATP2C2 Nonsynonymous SNV N292T 0 0 0.003 0 0 0 0 1 0 0 0 0 28 325665 chr12 26639048 26639048 G A rs368241765 ITPR2 Nonsynonymous SNV R1934W 0 0 0 1 0 0 0.003 0 0 0 0 0 31 325666 chr16 84872108 84872108 T C rs767752138 CRISPLD2 Nonsynonymous SNV C3R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 325667 chr3 126160628 126160628 C T rs767902988 ZXDC Nonsynonymous SNV V792I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.378 325668 chr16 89924836 89924836 G A SPIRE2 Nonsynonymous SNV G398D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.674 325669 chr16 90095620 90095620 A G rs61740023 GAS8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 325670 chr3 49042390 49042390 C T rs781692586 P4HTM Synonymous SNV H328H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 325671 chr3 47308744 47308744 T C KIF9 Nonsynonymous SNV N201D 0.001 0 0 0 1 0 0 0 0 0 0 0 28 325672 chr17 10263378 10263378 C T rs373315937 MYH13 Nonsynonymous SNV G182R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 325673 chr12 50749636 50749636 A G rs933584985 FAM186A Nonsynonymous SNV C327R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.777 325674 chr3 50231956 50231956 A C rs940268662 GNAT1 Nonsynonymous SNV H244P 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 325675 chr3 47456081 47456081 G A rs770001989 SCAP Nonsynonymous SNV T867M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 325676 chr3 49065156 49065156 C G rs763952299 IMPDH2 Nonsynonymous SNV C173S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.68 325677 chr3 5249933 5249933 A G rs747459729 EDEM1 Synonymous SNV T498T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.507 325678 chr12 52967360 52967360 C A rs766704206 KRT74 Nonsynonymous SNV V68F 0 0 0 1 0 0 0.003 0 0 0 0 0 4.935 325679 chr12 53662821 53662821 A G rs757421350 ESPL1 Nonsynonymous SNV N32S 0 0 0 1 0 0 0.003 0 0 0 0 0 8.56 325680 chr12 53670597 53670597 C T ESPL1 Synonymous SNV L632L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 325681 chr3 52556650 52556650 C T rs767431392 STAB1 Synonymous SNV C2230C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.181 325682 chr17 19215424 19215424 A G rs775225576 EPN2 Synonymous SNV R28R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.708 325683 chr12 53837483 53837483 C T rs769203486 PRR13 Stop gain Q60X 0 0 0 1 0 0 0.003 0 0 0 0 0 32 325684 chr3 56330135 56330135 G A rs373270503 ERC2 Nonsynonymous SNV T329M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 325685 chr17 19611757 19611757 G A rs201090632 SLC47A2 Nonsynonymous SNV P199S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 325686 chr3 58186804 58186804 T G rs147219402 DNASE1L3 Nonsynonymous SNV T126P 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 325687 chr12 56233317 56233317 C T rs369026881 MMP19 Synonymous SNV L243L 0 0 0 1 0 0 0.003 0 0 0 0 0 1.481 325688 chr14 102695924 102695924 T C MOK Nonsynonymous SNV K117R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.135 325689 chr3 8667973 8667973 A G rs756278575 SSUH2 Nonsynonymous SNV C237R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 325690 chr17 27047631 27047631 G A SNORD42B 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 325691 chr17 27047632 27047632 C G SNORD42B 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 325692 chr3 98309944 98309944 C T rs149384011 CPOX Synonymous SNV G204G 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 14.74 325693 chr12 69141755 69141755 A G SLC35E3 Nonsynonymous SNV K150E 0 0 0 1 0 0 0.003 0 0 0 0 0 17.95 325694 chr12 70284768 70284768 G A rs747194048 MYRFL Nonsynonymous SNV R242Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.6 325695 chr3 97595285 97595285 C T rs146175676 CRYBG3 Synonymous SNV D1749D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.554 325696 chr3 98217201 98217201 T C OR5K2 Nonsynonymous SNV F226S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 325697 chr17 36483894 36483895 GT - GPR179 T1853Ffs*47 0 0 0.003 0 0 0 0 1 0 0 0 0 325698 chr17 36483896 36483896 G A GPR179 Synonymous SNV L1852L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.041 325699 chr17 36483899 36483899 T - GPR179 R1851Sfs*31 0 0 0.003 0 0 0 0 1 0 0 0 0 325700 chr17 36858540 36858540 G T MIR4734 0 0 0.003 0 0 0 0 1 0 0 0 0 18.16 325701 chr12 55820959 55820959 - A OR6C76 Frameshift insertion H312Tfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 325702 chr12 95456460 95456460 G A rs138215045 NR2C1 Nonsynonymous SNV H37Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 14.44 325703 chr4 104072478 104072478 T C rs909880927 CENPE Synonymous SNV Q1073Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.184 325704 chr4 119689414 119689414 C G SEC24D Nonsynonymous SNV R366T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 325705 chr17 39190990 39190990 G T rs776659717 KRTAP1-3 Nonsynonymous SNV S28R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 325706 chr21 43913094 43913094 G T rs752263023 RSPH1 Nonsynonymous SNV F50L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 14.94 325707 chr12 106633198 106633198 C T rs199987043 CKAP4 Synonymous SNV T471T 0 0 0 1 0 0 0.003 0 0 0 0 0 3.533 325708 chr17 39458168 39458168 T C rs752989270 KRTAP29-1 Synonymous SNV L312L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.545 325709 chr15 42362293 42362293 C A PLA2G4D Nonsynonymous SNV A682S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.079 325710 chr12 109878603 109878603 C T rs60569210 MYO1H Nonsynonymous SNV R821C 0 0 0 1 0 0 0.003 0 0 0 0 0 17.75 325711 chr15 44089459 44089459 A G rs543527977 SERINC4 Nonsynonymous SNV L243P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 325712 chr12 110770402 110770402 A G rs199776454 ATP2A2 Nonsynonymous SNV M366V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.04 325713 chr12 111760254 111760254 C T rs747433827 CUX2 Synonymous SNV S870S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.43 325714 chr15 45388166 45388166 C T rs759698581 DUOX2 Nonsynonymous SNV E1314K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325715 chr15 45391587 45391587 T G rs200459845 DUOX2 Nonsynonymous SNV N1170T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 325716 chr12 69218390 69218390 G C MDM2 Nonsynonymous SNV R155T 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.41 325717 chr12 112703782 112703782 T C rs759140155 HECTD4 Nonsynonymous SNV R800G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 325718 chr4 128744750 128744750 G A rs373662475 HSPA4L Nonsynonymous SNV V632I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 325719 chr17 40719269 40719269 C T rs755439287 MLX Nonsynonymous SNV L43F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 325720 chr17 46024089 46024089 T C rs773871270 PNPO Synonymous SNV L243L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.41 325721 chr3 42264606 42264606 C T rs376571547 TRAK1 Nonsynonymous SNV R652W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 325722 chr17 47587786 47587786 G A rs753103561 NGFR Nonsynonymous SNV R194H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 325723 chr12 131605432 131605432 G A ADGRD1 Nonsynonymous SNV V717I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 325724 chr4 184201985 184201985 A G WWC2 Synonymous SNV Q873Q 0 0.003 0 0 0 1 0 0 0 0 0 0 7.97 325725 chr12 112036782 112036782 - TGCTGCTGCTGCTGCTGCTGC ATXN2 Q28_P29insQQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 325726 chr3 44763811 44763811 G A rs61740974 ZNF502 Nonsynonymous SNV R501H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 325727 chr12 133435699 133435699 G A rs761474515 CHFR Nonsynonymous SNV T209M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 325728 chr17 5486118 5486118 G A rs200126507 NLRP1 Nonsynonymous SNV S107F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.679 325729 chr15 74328097 74328097 C T rs550995360 PML Synonymous SNV S717S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.555 325730 chr17 56274410 56274410 G A rs753929272 EPX Synonymous SNV A304A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 325731 chr12 120876315 120876315 C T COX6A1 Synonymous SNV I79I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.19 325732 chr15 76017529 76017529 T C rs199987985 ODF3L1 Nonsynonymous SNV Y67H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 325733 chr4 187077192 187077192 G T FAM149A Nonsynonymous SNV G141V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 325734 chr13 24863273 24863273 A G rs756360388 SPATA13 Nonsynonymous SNV E170G 0 0 0 1 0 0 0.003 0 0 0 0 0 26 325735 chr4 27010079 27010079 A T rs757451167 STIM2 Synonymous SNV T393T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 325736 chr4 27019498 27019498 A T rs781654147 STIM2 Nonsynonymous SNV H552L 0 0.003 0 0 0 1 0 0 0 0 0 0 11.73 325737 chr4 27019499 27019499 - T STIM2 Frameshift insertion S553Ffs*6 0 0.003 0 0 0 1 0 0 0 0 0 0 325738 chr3 48687949 48687949 C T rs199670636 CELSR3 Nonsynonymous SNV V2146I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.058 325739 chr13 33017514 33017514 C T rs780770472 N4BP2L2 Nonsynonymous SNV S372N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 325740 chr4 3076606 3076606 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQQQQ 0.001 0 0 0 1 0 0 0 0 0 0 0 325741 chr4 39301905 39301905 T C RFC1 Nonsynonymous SNV I863V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 325742 chr3 52537054 52537054 C T STAB1 Nonsynonymous SNV T208I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 325743 chr17 708345 708345 C T rs76916305 NXN Synonymous SNV A213A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.04 325744 chr17 71383999 71383999 T C rs200974788 SDK2 Nonsynonymous SNV N1457S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 325745 chr3 53899271 53899271 T C IL17RB Nonsynonymous SNV V482A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.817 325746 chr4 55955552 55955552 A G rs775848381 KDR Synonymous SNV T1131T 0 0.003 0 0 0 1 0 0 0 0 0 0 3.739 325747 chr13 50204926 50204926 G A rs994780789 ARL11 Nonsynonymous SNV V115I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.33 325748 chr4 56768653 56768653 C T rs140210927 EXOC1 Synonymous SNV N812N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 325749 chr13 52520483 52520483 G C rs199581971 ATP7B Synonymous SNV T792T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.688 325750 chr13 75861015 75861015 G A rs374784151 TBC1D4 Synonymous SNV P1207P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.732 325751 chr3 93699297 93699297 C T rs375770842 ARL13B Synonymous SNV G10G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.23 325752 chr13 84454238 84454238 C T rs753343543 SLITRK1 Nonsynonymous SNV A469T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 17.77 325753 chr16 334396 334396 G A PDIA2 Stop gain W70X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 325754 chr17 74328429 74328429 G A rs144366518 PRPSAP1 Synonymous SNV P23P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 325755 chr13 103346826 103346826 G C rs745993299 METTL21C Nonsynonymous SNV A8G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.395 325756 chr17 7483406 7483406 A G rs148993489 CD68 Nonsynonymous SNV S83G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.01 325757 chr13 42733465 42733465 C T rs139117984 DGKH Nonsynonymous SNV T93I 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 325758 chr4 108566063 108566063 C T rs767178112 PAPSS1 Stop gain W467X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 325759 chr17 76967886 76967886 G A rs752934871 LGALS3BP Synonymous SNV G510G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.364 325760 chr17 7762102 7762102 G A rs200369460 CYB5D1 Nonsynonymous SNV R139H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 325761 chr2 211518789 211518789 G A rs553145464 CPS1 Nonsynonymous SNV R1174Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 325762 chr16 1498756 1498756 G A rs756852272 CLCN7 Synonymous SNV D579D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.758 325763 chr17 79514274 79514274 C T rs569931342 FAAP100 Nonsynonymous SNV G612R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 325764 chr5 1034361 1034361 C T rs34805572 NKD2 Synonymous SNV C114C 0.001 0 0.003 0 1 0 0 1 0 0 0 0 11.16 325765 chr17 8131852 8131852 C T CTC1 Synonymous SNV L1161L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 325766 chr17 813994 813994 T C rs2457272 LOC101927727 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 325767 chr14 23895187 23895187 C G rs755760309 MYH7 Synonymous SNV G716G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.81 325768 chr14 23991214 23991214 G C ZFHX2 Nonsynonymous SNV S2559C 0 0 0 1 0 0 0.003 0 0 0 0 0 15.17 325769 chr14 24572898 24572898 G T rs771599629 PCK2 Stop gain E416X 0 0 0 1 0 0 0.003 0 0 0 0 0 47 325770 chr5 112043536 112043536 C T rs1057517584 APC Nonsynonymous SNV P41L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.459 325771 chr16 8729111 8729111 C T rs377634718 METTL22 Synonymous SNV A214A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.11 325772 chr2 136873499 136873499 G A CXCR4 Nonsynonymous SNV P4L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.288 325773 chr5 121406273 121406273 A G rs766710805 LOX Synonymous SNV P119P 0 0.003 0 0 0 1 0 0 0 0 0 0 1.063 325774 chr16 10274176 10274176 G A GRIN2A Synonymous SNV P31P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.65 325775 chr5 112824048 112824048 - GCCGCCGCTGCCGCTGCC MCC G21_S22insGSGSGG 0.001 0 0 0 1 0 0 0 0 0 0 0 325776 chr2 230231717 230231717 G T rs141125901 DNER Synonymous SNV I658I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.36 325777 chr18 13056393 13056393 A G rs749855101 CEP192 Synonymous SNV T1268T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 325778 chr5 129015539 129015539 C T ADAMTS19 Synonymous SNV T863T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.39 325779 chr5 127419948 127419948 C T rs749472667 SLC12A2 Nonsynonymous SNV A101V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.34 325780 chr14 39650380 39650380 G A PNN Synonymous SNV Q489Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 325781 chr5 132200117 132200117 T C rs201689119 GDF9 Nonsynonymous SNV S37G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.052 325782 chr5 131309088 131309088 G A rs749597885 ACSL6 Synonymous SNV V358V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.94 325783 chr16 20681297 20681297 C T rs138822345 ACSM1 Nonsynonymous SNV R255Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.46 325784 chr5 134131702 134131702 T C rs755327824 DDX46 Nonsynonymous SNV F606L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 325785 chr18 48446834 48446834 G A rs147495819 ME2 Nonsynonymous SNV R248Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 325786 chr5 139947283 139947283 G A SLC35A4 Nonsynonymous SNV A177T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.514 325787 chr5 140256362 140256362 G A rs150390468 PCDHA12 Synonymous SNV L435L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.018 325788 chr2 176812232 176812232 G A rs147224445 LNPK Nonsynonymous SNV P105S 0 0 0 1 0 0 0.003 0 0 0 0 0 18.79 325789 chr16 53191314 53191314 G A rs768263955 CHD9 Nonsynonymous SNV R438Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 325790 chr14 65008984 65008984 G A HSPA2 Nonsynonymous SNV G473R 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.7 325791 chr5 14387676 14387676 C T rs767863522 TRIO Nonsynonymous SNV R1234W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 325792 chr14 65253813 65253813 T G SPTB Nonsynonymous SNV H957P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 24 325793 chr5 145719739 145719739 C T rs371875449 POU4F3 Nonsynonymous SNV A250V 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 325794 chr18 61652377 61652377 G A SERPINB8 Synonymous SNV G26G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.142 325795 chr2 179451935 179451935 C T rs773791222 TTN Nonsynonymous SNV E12270K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 325796 chr2 179477678 179477678 C G rs774495753 TTN Nonsynonymous SNV M7525I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 16.64 325797 chr16 57508891 57508891 C T rs202096723 DOK4 Nonsynonymous SNV R138H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325798 chr16 57787063 57787063 G C rs147460464 KATNB1 Synonymous SNV T310T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.624 325799 chr5 140811514 140811514 A G rs777058727 PCDHGA12 Synonymous SNV K396K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.489 325800 chr5 140953566 140953566 - GGAGGA DIAPH1 P611_L612insPP 0.001 0 0 0 1 0 0 0 0 0 0 0 325801 chr5 149242681 149242681 C T PDE6A 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 23 325802 chr5 148384306 148384306 G A rs536334280 SH3TC2 Nonsynonymous SNV R1279W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.03 325803 chr18 72168670 72168670 G C CNDP2 Nonsynonymous SNV G56A 0 0 0.003 0 0 0 0 1 0 0 0 0 25 325804 chr18 72913613 72913613 C G ZADH2 Nonsynonymous SNV A175P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 325805 chr14 74876042 74876042 C T SYNDIG1L Nonsynonymous SNV E136K 0.001 0 0 1 1 0 0.003 0 0 0 0 0 13.62 325806 chr18 74639010 74639010 G A rs753757939 ZNF236 Nonsynonymous SNV V1349M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 325807 chr5 150051945 150051945 C T rs750912098 MYOZ3 Synonymous SNV N156N 0 0.003 0 0 0 1 0 0 0 0 0 0 21.5 325808 chr5 146258299 146258299 - GCTGCTGCTGCTGCT PPP2R2B S19_C20insSSSSS 0.001 0 0 0 1 0 0 0 0 0 0 0 325809 chr2 182766988 182766988 A G rs147357576 ITPRID2 Nonsynonymous SNV E250G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.737 325810 chr2 182786999 182786999 G C rs61736565 ITPRID2 Nonsynonymous SNV D1004H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 325811 chr18 77806137 77806137 C T rs145186018 RBFA Synonymous SNV C338C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 325812 chr14 77493644 77493644 - GCG rs780441372 IRF2BPL A164_V165insA 0.001 0 0 1 1 0 0.003 0 0 0 0 0 325813 chr5 154181705 154181705 C T rs958413075 LARP1 Nonsynonymous SNV R347W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 325814 chr14 78174470 78174470 G T rs147560423 SLIRP Nonsynonymous SNV A6S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.236 325815 chr19 1020932 1020932 C T TMEM259 Nonsynonymous SNV A22T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.13 325816 chr5 156592748 156592748 G A rs556642968 FAM71B Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.346 325817 chr19 10665772 10665772 C T rs148813557 KRI1 Nonsynonymous SNV C591Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 325818 chr5 172659686 172659686 G A rs77612903 NKX2-5 Synonymous SNV A287A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.832 325819 chr14 94545820 94545820 - CCT rs550657596 DDX24 E89_G90insE 0 0 0 1 0 0 0.003 0 0 0 0 0 325820 chr19 12244199 12244199 T G rs200081943 ZNF20 Nonsynonymous SNV S265R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.195 325821 chr16 84034398 84034398 G A rs113004568 NECAB2 Synonymous SNV A326A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.26 325822 chr5 176084557 176084557 C T rs199830470 TSPAN17 Nonsynonymous SNV T217M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.25 325823 chr19 1255692 1255692 G A rs61744742 MIDN Synonymous SNV P376P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 325824 chr19 12786643 12786643 C T rs373267816 DHPS Nonsynonymous SNV R352Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.079 325825 chr14 96954654 96954654 T C rs778704718 AK7 Nonsynonymous SNV F650L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 325826 chr14 97326965 97326965 C T rs772731615 VRK1 Nonsynonymous SNV R321C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.6 325827 chr16 85691118 85691118 C T rs149163248 GSE1 Synonymous SNV S412S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.88 325828 chr5 176813022 176813022 C G SLC34A1 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 325829 chr14 77493767 77493767 - TGC IRF2BPL Q127_L128insQ 0 0 0 1 0 0 0.003 0 0 0 0 0 325830 chr2 209010578 209010578 G A rs372576064 CRYGB Synonymous SNV L58L 0.001 0 0 1 1 0 0.003 0 0 0 0 0 8.765 325831 chr5 26902642 26902642 C A CDH9 Nonsynonymous SNV G399V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 325832 chr19 17322803 17322803 C T rs184066363 MYO9B Nonsynonymous SNV T2053M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 325833 chr15 28259941 28259941 T C rs142931246 OCA2 Nonsynonymous SNV Y342C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 325834 chr19 17412352 17412352 T C rs151037617 ABHD8 Nonsynonymous SNV E25G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 325835 chr19 17653000 17653000 G A rs201431632 NIBAN3 Nonsynonymous SNV R166H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 325836 chr17 1083012 1083012 G A rs1044492859 ABR Nonsynonymous SNV L4F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 325837 chr5 39202426 39202426 C T rs760474346 FYB1 Nonsynonymous SNV E223K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.37 325838 chr19 19391040 19391040 G T SUGP1 Nonsynonymous SNV T435K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 325839 chr2 220430057 220430057 G A rs367696024 OBSL1 Nonsynonymous SNV R772C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 325840 chr19 2098100 2098100 C T rs146461646 IZUMO4 Synonymous SNV H149H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 325841 chr15 41816060 41816060 A G RPAP1 Nonsynonymous SNV L782P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 325842 chr19 32927431 32927431 A G rs900313288 DPY19L3 Synonymous SNV Q136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.438 325843 chr19 32949270 32949270 A G DPY19L3 Nonsynonymous SNV N393D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 325844 chr19 33229873 33229873 A G rs1003642761 TDRD12 Nonsynonymous SNV K99E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 325845 chr19 35085112 35085112 C T rs116167619 SCGB2B2 Nonsynonymous SNV V72M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.348 325846 chr17 4713311 4713311 G A rs200094300 PLD2 Nonsynonymous SNV D283N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 325847 chr15 31330247 31330247 C A TRPM1 Synonymous SNV T830T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.27 325848 chr17 4908293 4908293 A C rs1045112397 KIF1C Nonsynonymous SNV E388A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 325849 chr19 3765193 3765193 G A MRPL54 Nonsynonymous SNV A50T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.777 325850 chr19 38876383 38876383 G A rs766340028 GGN Nonsynonymous SNV P507S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 325851 chr15 42434875 42434875 C T rs115888024 PLA2G4F Nonsynonymous SNV G727E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 21.2 325852 chr15 42480037 42480037 C T rs61733873 VPS39 Synonymous SNV E120E 0 0 0.003 1 0 0 0.003 1 0 0 0 0 16.38 325853 chr15 42614205 42614205 G A rs61752494 GANC Nonsynonymous SNV S427N 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.31 325854 chr17 7749579 7749579 C T rs370023265 KDM6B Synonymous SNV F140F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.63 325855 chr15 42977460 42977460 C T rs114643981 STARD9 Synonymous SNV D1228D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.92 325856 chr17 8050074 8050074 G A rs573783648 PER1 Nonsynonymous SNV T582M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 325857 chr17 8132106 8132106 T C rs202226502 CTC1 Nonsynonymous SNV D1109G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.89 325858 chr17 8167903 8167903 G A rs772566332 PFAS Nonsynonymous SNV R678H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325859 chr17 8168395 8168395 G A rs753678281 PFAS Synonymous SNV V744V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.065 325860 chr15 45047125 45047125 G A rs2444007 TRIM69 Nonsynonymous SNV D12N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 10.19 325861 chr15 45660274 45660274 A G rs151231277 GATM Synonymous SNV Y223Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.952 325862 chr19 42880175 42880175 C A rs140517402 MEGF8 Nonsynonymous SNV L2529M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 325863 chr19 4323604 4323604 C T FSD1 Synonymous SNV G485G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 325864 chr15 83926759 83926759 T C rs1046569063 BNC1 Nonsynonymous SNV D800G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.39 325865 chr5 156566000 156566000 T C rs370750602 MED7 Nonsynonymous SNV E148G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 325866 chr17 21087733 21087733 C G DHRS7B Nonsynonymous SNV I177M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 325867 chr6 133070955 133070955 C T rs776803491 VNN2 Nonsynonymous SNV R196Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.555 325868 chr19 47231161 47231161 - CGG rs774087203 STRN4 R381_P382insR 0 0 0.003 0 0 0 0 1 0 0 0 0 325869 chr19 48229133 48229133 T C rs376420269 EHD2 Synonymous SNV F189F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.983 325870 chr19 49116514 49116514 A T rs748459828 FAM83E Stop gain L39X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 325871 chr19 50339483 50339483 C A rs199761611 MED25 Nonsynonymous SNV P656T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.8 325872 chr19 50386920 50386920 C A TBC1D17 Nonsynonymous SNV F315L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 325873 chr16 1251821 1251821 C T rs368758031 CACNA1H Synonymous SNV Y457Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.28 325874 chr15 89021178 89021178 G A rs369601980 MRPS11 Nonsynonymous SNV G152S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 325875 chr15 89424671 89424671 C T rs200900948 HAPLN3 Nonsynonymous SNV R137Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 325876 chr6 24797935 24797935 G A rs148217566 ARMH2 Synonymous SNV N132N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.898 325877 chr6 26156723 26156723 G T rs146982083 H1-4 Synonymous SNV A35A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.736 325878 chr19 53884284 53884284 T G ZNF525 Nonsynonymous SNV L151R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.861 325879 chr19 54310851 54310851 T C rs150848917 NLRP12 Nonsynonymous SNV N715S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.002 325880 chr17 42432165 42432165 C G FAM171A2 Nonsynonymous SNV E473Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 325881 chr6 348863 348863 G A rs369059027 DUSP22 Nonsynonymous SNV R177H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.238 325882 chr5 6633976 6633976 G A rs770647829 SRD5A1 Nonsynonymous SNV G96E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.638 325883 chr6 33632719 33632719 C T rs536206551 ITPR3 Synonymous SNV I407I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.6 325884 chr6 33631310 33631310 C T rs368801277 ITPR3 Nonsynonymous SNV P330S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.941 325885 chr16 16263650 16263650 C T rs72657689 ABCC6 Nonsynonymous SNV A950T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 5.397 325886 chr16 19584538 19584538 A G rs772184499 VPS35L Nonsynonymous SNV Y128C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 325887 chr3 124515307 124515307 C T rs778016470 ITGB5 Nonsynonymous SNV G388S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 325888 chr16 3024312 3024312 - G PKMYT1 Frameshift insertion R294Afs*71 0 0 0 1 0 0 0.003 0 0 0 0 0 325889 chr6 10556852 10556852 A G GCNT2 Nonsynonymous SNV I66V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 325890 chr19 6679150 6679150 G A C3 Nonsynonymous SNV P1539L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 325891 chr16 31159858 31159858 - C rs776705244 PRSS36 Frameshift insertion A138Rfs*105 0 0 0 1 0 0 0.003 0 0 0 0 0 325892 chr16 31539509 31539509 G T rs201919859 AHSP Stop gain E17X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 325893 chr19 757676 757676 G A rs757717568 MISP Nonsynonymous SNV V244M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 325894 chr6 56965475 56965475 T G ZNF451 Synonymous SNV L87L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.83 325895 chr16 57719681 57719681 C A rs773464640 ADGRG3 Synonymous SNV S341S 0 0 0.003 1 0 0 0.003 1 0 0 0 0 6.67 325896 chr6 119232914 119232914 C A rs146570187 MCM9 Nonsynonymous SNV V351F 0.001 0 0 0 1 0 0 0 0 0 0 0 33 325897 chr6 13801546 13801546 A C rs766515581 MCUR1 Nonsynonymous SNV F239V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 325898 chr16 74709278 74709278 G A rs370078597 MLKL Nonsynonymous SNV S187L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.869 325899 chr16 77401382 77401382 T C rs148305394 ADAMTS18 Nonsynonymous SNV I72V 0 0 0 1 0 0 0.003 0 0 0 0 0 5.407 325900 chr3 184007504 184007504 G A rs768847215 ECE2, EEF1AKMT4-ECE2 Nonsynonymous SNV G488R 0 0 0 1 0 0 0.003 0 0 0 0 0 28 325901 chr17 80417899 80417899 A G rs144725155 NARF Nonsynonymous SNV Q20R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.91 325902 chr1 114450773 114450773 C G DCLRE1B Synonymous SNV V40V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 325903 chr16 88778471 88778471 C T CTU2 Stop gain R116X 0 0 0 1 0 0 0.003 0 0 0 0 0 6.614 325904 chr16 67229857 67229857 C T rs147869928 E2F4 Synonymous SNV S327S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.36 325905 chr1 118583417 118583417 T C rs762669568 SPAG17 Synonymous SNV S1034S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.124 325906 chr1 118693981 118693981 C A rs745669849 SPAG17 Nonsynonymous SNV Q33H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 325907 chr16 67964361 67964361 G A rs11552953 CTRL Nonsynonymous SNV T150I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.87 325908 chr16 70599123 70599123 A G rs370400824 SF3B3 Synonymous SNV Q873Q 0 0 0 1 0 0 0.003 0 0 0 0 0 5.65 325909 chr16 70601416 70601416 T C rs202217605 SF3B3 Synonymous SNV L977L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.646 325910 chr17 1538682 1538682 C G rs139029063 SCARF1 Synonymous SNV R621R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.28 325911 chr16 71660545 71660545 C G rs201373593 MARVELD3 Nonsynonymous SNV P138R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.16 325912 chr17 1968795 1968795 G A rs375650509 SMG6 Synonymous SNV I249I 0 0 0 1 0 0 0.003 0 0 0 0 0 16.87 325913 chr16 75147895 75147895 G A rs34833014 LDHD Synonymous SNV I289I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.86 325914 chr1 151261700 151261700 T C rs111833417 ZNF687 Synonymous SNV H808H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.55 325915 chr16 75269730 75269730 G A rs61729593 BCAR1 Nonsynonymous SNV P146L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 11.25 325916 chr1 151491324 151491324 G A rs780983147 CGN Nonsynonymous SNV G110E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.114 325917 chr17 4536757 4536757 G A rs776754986 ALOX15 Synonymous SNV N400N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.63 325918 chr1 155920104 155920104 G A ARHGEF2 Nonsynonymous SNV P958L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 325919 chr1 156626796 156626796 G T rs41267397 BCAN Nonsynonymous SNV R706L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 32 325920 chr17 6364828 6364828 C T rs146899730 PITPNM3 Synonymous SNV P749P 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.26 325921 chr1 156821722 156821722 C A INSRR Nonsynonymous SNV C300F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 325922 chr1 156883746 156883746 G T rs139535034 PEAR1 Nonsynonymous SNV R939L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 325923 chr7 144096069 144096069 G A rs747372411 NOBOX Synonymous SNV D481D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.112 325924 chr1 158631158 158631158 T C rs201844450 SPTA1 Nonsynonymous SNV R836G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.28 325925 chr17 7219462 7219462 G A rs374633373 NEURL4 Synonymous SNV L1555L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.58 325926 chr17 7291966 7291966 C T rs148384084 TNK1 Synonymous SNV A578A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.46 325927 chr4 36152577 36152577 T C ARAP2 Nonsynonymous SNV I948V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.609 325928 chr19 518945 518945 G C rs760194556 TPGS1 Nonsynonymous SNV R132P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 325929 chr1 160143427 160143427 G A rs750672873 ATP1A4 Synonymous SNV V637V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 325930 chr17 7979514 7979514 G A rs141010860 ALOX12B Nonsynonymous SNV A504V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 325931 chr17 8139178 8139178 G T CTC1 Synonymous SNV R393R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.826 325932 chr7 1519141 1519141 G A rs201592498 INTS1 Synonymous SNV G1418G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.7 325933 chr19 1277264 1277264 G A rs765790295 FAM174C Nonsynonymous SNV E122K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 325934 chr7 21945911 21945911 A G CDCA7L Nonsynonymous SNV I260T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 325935 chr17 19288457 19288457 C A MFAP4 Nonsynonymous SNV D183Y 0 0 0 1 0 0 0.003 0 0 0 0 0 24.9 325936 chr19 3543908 3543908 C T rs202172544 C19orf71 Nonsynonymous SNV P177L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 325937 chr7 31815322 31815322 G A rs201169414 PDE1C Nonsynonymous SNV S639L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 325938 chr1 186086594 186086594 C T rs761533889 HMCN1 Nonsynonymous SNV P3896L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 325939 chr6 89974162 89974162 T C rs117866541 GABRR2 Nonsynonymous SNV Q352R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.12 325940 chr17 34881091 34881091 T C rs376177622 MYO19 Nonsynonymous SNV I128V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.13 325941 chr7 47852870 47852870 G A PKD1L1 Nonsynonymous SNV L2399F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.304 325942 chr17 36935704 36935704 T C PIP4K2B Nonsynonymous SNV T196A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 325943 chr1 201869821 201869821 T C LMOD1 Nonsynonymous SNV D107G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 325944 chr1 203672915 203672915 G A rs747649058 ATP2B4 Nonsynonymous SNV R358H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 325945 chr7 55240749 55240749 G A rs745422316 EGFR Nonsynonymous SNV G398S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.8 325946 chr7 71175845 71175845 C T rs770690227 GALNT17 Nonsynonymous SNV R534W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 325947 chr7 6692223 6692223 C T rs769679851 ZNF316 Synonymous SNV F332F 0.002 0 0 0 2 0 0 0 0 0 0 0 7.986 325948 chr7 73768319 73768319 C T CLIP2 Nonsynonymous SNV A263V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 325949 chr7 751132 751132 G A rs769267700 PRKAR1B Nonsynonymous SNV P4L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 325950 chr19 9868650 9868650 C A rs529438929 ZNF846 Nonsynonymous SNV C239F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 325951 chr5 1242904 1242904 C T rs748663095 SLC6A18 Synonymous SNV L353L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.816 325952 chr17 40318483 40318483 C T rs748724738 KCNH4 Nonsynonymous SNV G558R 0 0 0 1 0 0 0.003 0 0 0 0 0 23 325953 chr17 40849750 40849750 T C rs368767734 CNTNAP1 Synonymous SNV N1249N 0 0 0 1 0 0 0.003 0 0 0 0 0 1.934 325954 chr7 7713003 7713003 - G UMAD1 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 325955 chr7 7713004 7713004 T C rs769931112 UMAD1 Star tloss M1? 0.002 0 0 0 2 0 0 0 0 0 0 0 16.55 325956 chr19 10426428 10426428 G C FDX2 Synonymous SNV R54R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.757 325957 chr5 131607796 131607796 G A PDLIM4 Synonymous SNV K289K 0.001 0 0 0 1 0 0 0 0 0 0 0 14 325958 chr1 22165440 22165440 G A rs527917900 HSPG2 Nonsynonymous SNV A3344V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.721 325959 chr7 91761116 91761116 A G rs149112643 CYP51A1 Nonsynonymous SNV I88T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 325960 chr1 223177006 223177006 G A rs148437031 DISP1 Nonsynonymous SNV R756Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.3 325961 chr5 13871097 13871097 C T rs767655417 DNAH5 Nonsynonymous SNV A1205T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.23 325962 chr19 13320199 13320199 G T rs765842344 CACNA1A Nonsynonymous SNV H2152Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 325963 chr7 959679 959679 C T rs769564217 ADAP1 Nonsynonymous SNV R10Q 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 325964 chr19 13941558 13941558 C G ZSWIM4 Synonymous SNV L888L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.587 325965 chr17 48276673 48276673 G A rs761672800 COL1A1 Nonsynonymous SNV P129S 0 0 0 1 0 0 0.003 0 0 0 0 0 not provided 21.2 325966 chr17 37321346 37321346 G C ARL5C Synonymous SNV T31T 0 0 0 1 0 0 0.003 0 0 0 0 0 7.004 325967 chr8 101299914 101299917 TAAA - RNF19A Stop gain Y162* 0.001 0 0 0 1 0 0 0 0 0 0 0 325968 chr17 51064047 51064047 G A C17orf112 0 0 0 1 0 0 0.003 0 0 0 0 0 13.59 325969 chr1 228393015 228393015 C T rs546219771 OBSCN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.182 325970 chr1 228492229 228492229 G A rs55797049 OBSCN Nonsynonymous SNV C4743Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 325971 chr1 22985954 22985954 T - C1QB M2Rfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 325972 chr1 22987340 22987340 G A rs35477594 C1QB Nonsynonymous SNV G75R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 325973 chr5 140811191 140811191 G T PCDHGA12 Nonsynonymous SNV A289S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.123 325974 chr8 11687901 11687901 G A FDFT1 Nonsynonymous SNV S117N 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 325975 chr17 39726418 39726418 G A rs144301874 KRT9 Nonsynonymous SNV R233C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 26.2 325976 chr1 24409110 24409110 C T rs200195822 MYOM3 Nonsynonymous SNV E689K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 325977 chr8 134125814 134125814 C T TG Nonsynonymous SNV A2574V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 325978 chr17 43319434 43319434 - CCGCCG rs570361021 FMNL1 P612_G613insPP 0 0 0 1 0 0 0.003 0 0 0 0 0 325979 chr19 20829119 20829119 C T rs139476512 ZNF626 Synonymous SNV V32V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.717 325980 chr8 142161813 142161813 G A rs748416043 DENND3 Synonymous SNV L317L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.592 325981 chr17 73096881 73096881 C G rs371149751 SLC16A5 Nonsynonymous SNV L375V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 325982 chr19 23316903 23316903 G A rs765572107 ZNF730 Nonsynonymous SNV V9M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 325983 chr8 141285816 141285816 T A TRAPPC9 Nonsynonymous SNV N731I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 325984 chr4 42509122 42509122 T A ATP8A1 Nonsynonymous SNV Q651L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 325985 chr7 149497045 149497045 C - rs771977177 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 325986 chr19 33372828 33372828 T C CEP89 Nonsynonymous SNV Y686C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 325987 chr4 57861546 57861546 T C POLR2B Nonsynonymous SNV W161R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 325988 chr5 176824864 176824864 C T rs928799060 SLC34A1 Synonymous SNV R499R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.682 325989 chr19 36357294 36357294 C T KIRREL2 Nonsynonymous SNV P626L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 325990 chr1 28212377 28212377 G A rs751520098 THEMIS2 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 325991 chr4 69098115 69098115 A G rs10018067 TMPRSS11B Synonymous SNV S163S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.466 325992 chr1 28212391 28212391 T C rs748012099 THEMIS2 Synonymous SNV H630H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.076 325993 chr1 33747302 33747302 C T rs752377856 ZNF362 Synonymous SNV N266N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 325994 chr1 33772880 33772880 T C rs545688298 A3GALT2 Synonymous SNV Q170Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 325995 chr5 32126531 32126531 G T rs200860671 GOLPH3 Nonsynonymous SNV D228E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.423 325996 chr19 40421151 40421151 G T rs1050119927 FCGBP Synonymous SNV R924R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 325997 chr19 40421152 40421152 C T rs888847483 FCGBP Synonymous SNV V923V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 325998 chr1 3765181 3765181 C T rs199576006 CEP104 Nonsynonymous SNV R93Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 325999 chr19 40903398 40903398 G A rs535958285 PRX Synonymous SNV A287A 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 0.911 326000 chr1 3782343 3782343 A G DFFB Nonsynonymous SNV D94G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.715 326001 chr17 79517371 79517371 G A rs553681082 FAAP100 Synonymous SNV P383P 0 0 0 1 0 0 0.003 0 0 0 0 0 9.735 326002 chr1 40981256 40981256 C T rs199871553 EXO5 Nonsynonymous SNV T347I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 326003 chr8 22262443 22262443 G C SLC39A14 Nonsynonymous SNV G74R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 326004 chr5 40972544 40972545 AG - rs764871530 C7 H643Pfs*10 0.001 0 0 0 1 0 0 0 0 0 0 0 326005 chr18 2913164 2913164 C G rs760366311 EMILIN2 Nonsynonymous SNV A975G 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 326006 chr1 46977933 46977933 G T rs749854768 DMBX1 Nonsynonymous SNV G306C 0 0 0.003 0 0 0 0 1 0 0 0 0 28 326007 chr8 29923657 29923657 - A rs745870836 SARAF 0.001 0.003 0 0 1 1 0 0 0 0 0 0 326008 chr1 58996320 58996320 C A rs77980955 OMA1 Nonsynonymous SNV D365Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 326009 chr1 62237255 62237255 G T rs568316843 PATJ Nonsynonymous SNV S226I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 326010 chr8 73849179 73849179 C T rs370109644 KCNB2 Nonsynonymous SNV S530F 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 326011 chr18 43219724 43219724 T C rs748313210 SLC14A2 Nonsynonymous SNV I286T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 326012 chr8 80915400 80915400 C T rs148845662 MRPS28 Nonsynonymous SNV V77M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 326013 chr1 86048537 86048537 G A rs759560691 CCN1 Nonsynonymous SNV G320S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 326014 chr18 2747559 2747559 A G rs201059575 SMCHD1 Nonsynonymous SNV I1281V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 15.16 326015 chr18 3079257 3079257 G A rs761317710 MYOM1 Nonsynonymous SNV P1427L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 24.3 326016 chr1 878394 878394 T C SAMD11 Nonsynonymous SNV L507P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 326017 chr1 9083080 9083080 C T rs142873567 SLC2A7 Nonsynonymous SNV G70R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 326018 chr9 114184475 114184475 A G rs770744202 ECPAS Nonsynonymous SNV M424T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 326019 chr5 145199531 145199531 C T rs142301961 PRELID2 Nonsynonymous SNV V62M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 326020 chr9 115652874 115652874 G T SLC46A2 Nonsynonymous SNV Q30K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 326021 chr9 115759855 115759856 TT - rs796168087 ZNF883 R229Nfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 326022 chr9 115759857 115759857 - GGA rs771959317 ZNF883 H227_Q228insL 0 0.003 0 0 0 1 0 0 0 0 0 0 326023 chr20 13260378 13260378 G A rs201494082 ISM1 Nonsynonymous SNV R159Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.44 326024 chr20 13567896 13567896 C A TASP1 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 326025 chr18 77895740 77895740 A G rs113879497 ADNP2 Nonsynonymous SNV N815S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.914 326026 chr19 881584 881584 G A rs200294634 MED16 Synonymous SNV S372S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.02 326027 chr6 130415458 130415458 C T rs141824361 L3MBTL3 Nonsynonymous SNV P536L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 326028 chr9 125391659 125391659 G A OR1B1 Synonymous SNV S52S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.44 326029 chr19 55495031 55495031 G A rs142693093 NLRP2 Synonymous SNV L633L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.089 326030 chr9 127915947 127915947 G A rs2271746 PPP6C Synonymous SNV T156T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 326031 chr9 128064673 128064673 T G rs10986694 GAPVD1 Synonymous SNV T199T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.035 326032 chr20 2777070 2777070 G A rs775307824 CPXM1 Synonymous SNV Y355Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.871 326033 chr20 2969048 2969048 C T PTPRA Synonymous SNV P213P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 326034 chr20 31657725 31657725 C T rs79150816 BPIFB3 Nonsynonymous SNV S394L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 326035 chr20 31760760 31760760 C T rs58172152 BPIFA2 Synonymous SNV V60V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 326036 chr19 2936530 2936530 C A ZNF77 Nonsynonymous SNV R101S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.5 326037 chr19 3019448 3019448 G A rs766332010 TLE2 Nonsynonymous SNV P129L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.6 326038 chr20 33297083 33297083 C T rs747785849 TP53INP2 Synonymous SNV P56P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.88 326039 chr9 131821445 131821445 C T rs761137509 MIGA2 Nonsynonymous SNV R230W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 326040 chr20 3653275 3653275 T C ADAM33 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 326041 chr9 134340314 134340314 C T rs201591516 PRRC2B Synonymous SNV A523A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.66 326042 chr19 57954981 57954981 G A rs369534341 ZNF749 Synonymous SNV T68T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.92 326043 chr20 39990135 39990135 G A rs755404600 EMILIN3 Nonsynonymous SNV R692W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 326044 chr5 179042559 179042559 T C HNRNPH1 Synonymous SNV S426S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.12 326045 chr20 43379250 43379250 A G rs760252999 KCNK15 Nonsynonymous SNV E255G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.38 326046 chr9 135987453 135987453 - CCTC RALGDS Frameshift insertion N36Rfs*11 0 0.003 0 0 0 1 0 0 0 0 0 0 326047 chr20 43726673 43726673 G A KCNS1 Nonsynonymous SNV A247V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.32 326048 chr8 144808953 144808953 G T rs200179667 FAM83H Nonsynonymous SNV P893Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.18 326049 chr19 6008198 6008198 G T rs930723275 RFX2 Nonsynonymous SNV D326E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.67 326050 chr8 144942794 144942794 G A rs373737061 EPPK1 Nonsynonymous SNV T1543M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.29 326051 chr8 144943223 144943223 T C rs139952490 EPPK1 Nonsynonymous SNV N1400S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.262 326052 chr9 139230443 139230443 G T rs880003197 GPSM1 Nonsynonymous SNV G104V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 326053 chr20 50051781 50051781 T A rs528371807 NFATC2 Nonsynonymous SNV Y639F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 326054 chr19 7593722 7593722 A G rs141240937 MCOLN1 Nonsynonymous SNV M334V 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.12 326055 chr20 2593920 2593920 T G rs367574424 TMC2 Nonsynonymous SNV F608L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 326056 chr19 3543234 3543234 G A rs73920156 C19orf71 Nonsynonymous SNV D29N 0 0 0 1 0 0 0.003 0 0 0 0 0 7.382 326057 chr8 146068264 146068264 G C rs368859595 ZNF7 Nonsynonymous SNV S495T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 326058 chr8 146076171 146076171 C T rs762240188 COMMD5 Nonsynonymous SNV G185R 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 326059 chr9 140707586 140707586 C T rs747347498 EHMT1 Nonsynonymous SNV A992V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.91 326060 chr20 17479550 17479550 C T rs766772031 BFSP1 Nonsynonymous SNV D166N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326061 chr9 27192572 27192572 T G rs777754814 TEK Synonymous SNV G378G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.395 326062 chr19 9058583 9058583 C T rs757700782 MUC16 Nonsynonymous SNV M9621I 0 0 0 1 0 0 0.003 0 0 0 0 0 7.036 326063 chr20 62551027 62551027 G A rs2427557 MIR941-1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.071 326064 chr9 35546699 35546699 C G rs943942875 RUSC2 Nonsynonymous SNV Q61E 0 0.003 0 0 0 1 0 0 0 0 0 0 24 326065 chr19 9065227 9065227 C G rs772051372 MUC16 Nonsynonymous SNV V7407L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.453 326066 chr20 20257967 20257967 G A rs375848946 CFAP61 Synonymous SNV A887A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 326067 chr19 7999032 7999032 G A rs770315993 TIMM44 Nonsynonymous SNV S162L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.7 326068 chr9 5233713 5233713 A G rs760193494 INSL4 Nonsynonymous SNV I86V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 326069 chr9 368070 368070 T G rs764950936 DOCK8 Nonsynonymous SNV S510A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.5 326070 chr9 71628889 71628889 G A PRKACG Synonymous SNV S40S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.386 326071 chr20 33859556 33859556 G A rs773070007 MMP24 Synonymous SNV T506T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.61 326072 chr20 34312981 34312981 C T rs180826538 RBM39 Synonymous SNV E149E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.12 326073 chr21 40695051 40695051 C G rs371233086 BRWD1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.773 326074 chr19 12128990 12128990 C A rs749919243 ZNF433 Nonsynonymous SNV A44S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.641 326075 chr9 88967761 88967761 A G TUT7 Synonymous SNV P118P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.623 326076 chr21 44438272 44438272 G A rs377090331 PKNOX1 Nonsynonymous SNV V101I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 326077 chr19 9090695 9090695 T C rs749346819 MUC16 Nonsynonymous SNV M374V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 326078 chr21 45821633 45821633 G T rs138123577 TRPM2 Synonymous SNV V797V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.093 326079 chr21 46950811 46950811 C A rs142899279 SLC19A1 Nonsynonymous SNV V302F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 326080 chr8 97892119 97892119 G A rs141107654 CPQ Nonsynonymous SNV M245I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 326081 chr19 10472598 10472598 C T rs140594440 TYK2 Nonsynonymous SNV V603M 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 25.3 326082 chr8 99149159 99149159 A G rs149039184 POP1 Nonsynonymous SNV I447V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.54 326083 chr20 58646114 58646114 C A rs563464930 C20orf197 0.002 0 0 0 2 0 0 0 0 0 0 0 4.903 326084 chr19 18054468 18054468 C T rs141057294 CCDC124 Nonsynonymous SNV R206C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326085 chrX 131188750 131188750 G A rs776577670 STK26 Nonsynonymous SNV R45H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 326086 chr22 23523646 23523646 C G rs749148316 BCR Nonsynonymous SNV Q167E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 326087 chrX 153539347 153539347 A G TKTL1 Nonsynonymous SNV N115D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 326088 chr9 116045699 116045699 C G PRPF4 Synonymous SNV L197L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 326089 chr20 62326964 62326964 C G rs376313219 RTEL1 Nonsynonymous SNV D1261E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.1 326090 chr19 24310717 24310717 T C rs200854021 ZNF254 Nonsynonymous SNV F554L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.865 326091 chrX 30254997 30254997 A G MAGEB3 Nonsynonymous SNV Q319R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 326092 chr21 16339678 16339678 T C rs905200611 NRIP1 Nonsynonymous SNV Y279C 0.001 0 0 0 1 0 0 0 0 0 0 0 25 326093 chr22 31521326 31521326 A C rs201734999 INPP5J Nonsynonymous SNV T201P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.102 326094 chr22 35806899 35806899 C T rs372872390 MCM5 Synonymous SNV G305G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 326095 chr22 36900813 36900813 G A rs756611081 FOXRED2 Synonymous SNV S176S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.185 326096 chr21 32582514 32582514 G A rs1021016374 TIAM1 Synonymous SNV V720V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 326097 chrX 54112201 54112201 C T rs782597475 FAM120C Nonsynonymous SNV R929Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 326098 chrX 54224855 54224855 C T rs781958016 WNK3 Nonsynonymous SNV A1712T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.723 326099 chrX 64722270 64722270 G A rs759319191 ZC3H12B Synonymous SNV E564E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.143 326100 chr19 37441367 37441367 C T rs747404561 ZNF568 Stop gain R374X 0 0 0 1 0 0 0.003 0 0 0 0 0 35 326101 chr7 100680089 100680089 A G rs148833431 MUC17 Nonsynonymous SNV I1798V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 326102 chr1 11008127 11008127 C T rs116547730 C1orf127 Nonsynonymous SNV G550R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.682 326103 chr21 46925824 46925824 G A rs759489506 COL18A1 Nonsynonymous SNV V1231M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 326104 chr9 138395437 138395437 G A rs143202082 MRPS2 Nonsynonymous SNV D117N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 326105 chr7 107743524 107743524 G A rs779473364 LAMB4 Nonsynonymous SNV P382L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 326106 chr19 42569892 42569892 C T GRIK5 Nonsynonymous SNV V11I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.03 326107 chr1 7993346 7993346 C A rs150424591 TNFRSF9 Synonymous SNV P185P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 326108 chr6 27278917 27278917 A G POM121L2 Nonsynonymous SNV S345P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.131 326109 chr19 44470428 44470428 A G rs747761463 ZNF221 Synonymous SNV Q258Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.773 326110 chr9 140267374 140267374 C T rs756735695 EXD3 Nonsynonymous SNV E149K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.946 326111 chr2 110107222 110107222 C T rs191278485 SH3RF3 Synonymous SNV H770H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.534 326112 chr9 140459563 140459563 G A rs62000380 DPH7 Synonymous SNV P94P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.55 326113 chr7 139257689 139257689 T C rs750669012 HIPK2 Nonsynonymous SNV Q1167R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 326114 chr19 47919955 47919955 C A rs201276434 MEIS3 Nonsynonymous SNV R117L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 326115 chr19 48049054 48049054 C A rs543362890 ZNF541 Nonsynonymous SNV E244D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.034 326116 chr2 135781037 135781037 G C MAP3K19 Nonsynonymous SNV D21E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.407 326117 chr2 136418898 136418898 C T rs151233134 R3HDM1 Nonsynonymous SNV P533L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 326118 chr9 37746718 37746718 C T rs76149728 FRMPD1 Synonymous SNV A1563A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.22 326119 chr9 4118324 4118324 C A rs200959196 GLIS3 Nonsynonymous SNV G230V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.02 326120 chr22 30639745 30639745 G A rs192914111 LIF Synonymous SNV Y168Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.023 326121 chr19 50919880 50919880 G A rs3218752 POLD1 Synonymous SNV T1015T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 5.986 326122 chr2 169757913 169757913 T - G6PC2 Stop gain L26* 0 0 0.003 0 0 0 0 1 0 0 0 0 326123 chrX 127185638 127185638 - T rs771087307 ACTRT1 Frameshift insertion M183Nfs*17 0.002 0 0 0 2 0 0 0 1 0 0 0 326124 chr2 185802597 185802597 C T ZNF804A Nonsynonymous SNV T825I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 326125 chr2 188361732 188361732 T G TFPI Synonymous SNV A65A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.067 326126 chr19 55658388 55658388 C G rs748000993 TNNT1 Nonsynonymous SNV E12Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 13.76 326127 chr7 100086756 100086756 C T rs750244151 NYAP1 Nonsynonymous SNV T471M 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 326128 chr7 100457578 100457578 T C rs80308281 SLC12A9 Nonsynonymous SNV I207T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 326129 chr19 56001702 56001702 G A rs750071288 SSC5D Synonymous SNV R171R 0 0 0 1 0 0 0.003 0 0 0 0 0 7.809 326130 chr2 198571004 198571004 A G rs750120061 MARS2 Nonsynonymous SNV Y292C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 326131 chr2 206911271 206911271 C T rs996747626 INO80D Nonsynonymous SNV V344I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.53 326132 chr1 70832144 70832144 G C rs201259914 HHLA3 Nonsynonymous SNV G60R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 326133 chrX 47842425 47842425 G A rs368158358 ZNF182 Synonymous SNV T52T 0.002 0 0 0 2 0 0 0 1 0 0 0 10.02 326134 chr19 58153510 58153510 C T rs73573470 ZNF211 Synonymous SNV L491L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.48 326135 chr1 79116305 79116305 C G rs552036197 IFI44 Nonsynonymous SNV S142C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 326136 chr19 58189823 58189823 G C rs116138022 ZSCAN4 Nonsynonymous SNV E284D 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.855 326137 chr19 58193542 58193542 C G rs61734069 ZNF551 Nonsynonymous SNV P4R 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 326138 chr19 58549372 58549372 G A rs76463384 ZSCAN1 Synonymous SNV L56L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 4.242 326139 chr2 217148444 217148444 C T rs148505326 MARCHF4 Synonymous SNV L175L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 326140 chr10 101715588 101715588 A G DNMBP Nonsynonymous SNV L548P 0.001 0 0 0 1 0 0 0 0 0 0 0 26 326141 chr1 86499600 86499600 G A COL24A1 Nonsynonymous SNV P653S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 326142 chr1 91727906 91727906 A G HFM1 Nonsynonymous SNV I1377T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 326143 chr19 56133549 56133549 C A ZNF784 Nonsynonymous SNV E180D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 326144 chr2 220422126 220422126 G T rs375716830 OBSL1 Nonsynonymous SNV D1335E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.5 326145 chr7 77325758 77325758 G A rs748228871 APTR 0.001 0 0 0 1 0 0 0 0 0 0 0 17 326146 chr2 225750874 225750874 C G rs201155796 DOCK10 Nonsynonymous SNV G167A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 326147 chrX 149931185 149931185 G A rs77346702 MTMR1 Nonsynonymous SNV V567I 0.002 0 0 0 2 0 0 0 1 0 0 0 8.956 326148 chrX 153662736 153662736 C T ATP6AP1 Synonymous SNV T289T 0.002 0 0 0 2 0 0 0 1 0 0 0 14.51 326149 chrY 16734346 16734346 A G rs768737534 NLGN4Y Nonsynonymous SNV E116G 0.002 0 0 0 2 0 0 0 1 0 0 0 10.66 326150 chr1 111217181 111217181 - CGCAGCCGCCGCCGC KCNA3 C83_D84insGGGGC 0.001 0 0 0 1 0 0 0 0 0 0 0 326151 chr10 101611277 101611277 C T rs8187709 ABCC2 Synonymous SNV N1509N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.78 326152 chr1 112270070 112270070 C T rs142736994 INKA2 Synonymous SNV P138P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 326153 chr2 234704686 234704686 C A rs148598250 MROH2A Nonsynonymous SNV A378D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 326154 chr7 99704388 99704388 G A rs142429364 AP4M1 Synonymous SNV T422T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.05 326155 chr1 114440548 114440548 G A rs776976178 AP4B1 Stop gain R238X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 43 326156 chr20 20278996 20278996 C T rs748459645 CFAP61 Nonsynonymous SNV R1130W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326157 chr10 126714682 126714682 G C CTBP2 Nonsynonymous SNV I549M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 326158 chr2 241872735 241872735 G A rs370465908 CROCC2 Nonsynonymous SNV R480Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.242 326159 chr10 112655767 112655767 C G rs201111696 PDCD4 Nonsynonymous SNV S410C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 326160 chr2 25050856 25050856 C T rs779412964 ADCY3 Nonsynonymous SNV V783I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.464 326161 chr20 6022790 6022790 G A LRRN4 Synonymous SNV S367S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.758 326162 chr2 27320479 27320479 C T rs199554107 KHK Stop gain R176X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 326163 chr10 14951099 14951101 CTT - rs373709012 DCLRE1C E347del 0.001 0 0 0 1 0 0 0 0 0 0 0 326164 chr10 17277312 17277312 G T VIM Nonsynonymous SNV D385Y 0.001 0 0 0 1 0 0 0 0 0 0 0 31 326165 chr1 155629792 155629792 T C rs537349 YY1AP1 Nonsynonymous SNV M626V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.486 326166 chr2 30966369 30966369 C T rs771712940 CAPN13 Nonsynonymous SNV R442H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 326167 chr20 47734436 47734436 C T rs747076422 STAU1 Nonsynonymous SNV G388S 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326168 chr2 32728271 32728271 A G rs747570125 BIRC6 Nonsynonymous SNV N3156S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 326169 chr1 156500082 156500082 G A rs776760949 IQGAP3 Stop gain R1407X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 326170 chr1 157665202 157665202 G A rs746248621 FCRL3 Nonsynonymous SNV A443V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.674 326171 chr8 144557582 144557582 G T rs149988955 ZC3H3 Nonsynonymous SNV P630H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.151 326172 chr2 39249749 39249749 A G rs758699499 SOS1 Nonsynonymous SNV I607T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.52 326173 chr10 28229732 28229732 A C ARMC4 Synonymous SNV V107V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.399 326174 chr20 34205133 34205133 C T rs45438692 SPAG4 Nonsynonymous SNV P50L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 326175 chr20 34241119 34241119 G C rs146615696 RBM12 Nonsynonymous SNV T709S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 326176 chr20 34519283 34519283 C T rs147498022 PHF20 Synonymous SNV I739I 0 0 0 1 0 0 0.003 0 0 0 0 0 17.43 326177 chr20 34526910 34526910 C T rs139572409 PHF20 Synonymous SNV L864L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.42 326178 chr7 27204975 27204975 G C rs771743626 HOXA9 Synonymous SNV T34T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.118 326179 chr20 61939415 61939415 C T rs745603198 COL20A1 Nonsynonymous SNV R250C 0 0 0 1 0 0 0.003 0 0 0 0 0 18.72 326180 chr7 38247135 38247135 C T rs377074031 STARD3NL Synonymous SNV N10N 0 0 0 1 0 0 0.003 0 0 0 0 0 12.91 326181 chr20 45130966 45130966 C T ZNF334 Nonsynonymous SNV E300K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 326182 chr20 62329655 62329655 C T rs112186341 TNFRSF6B Synonymous SNV A214A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.29 326183 chr10 48413905 48413905 G T rs370309301 GDF2 Synonymous SNV A321A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.892 326184 chr11 130131056 130131056 C T rs754651883 ZBTB44 Nonsynonymous SNV R238Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 326185 chr2 73717866 73717866 G A rs778162209 ALMS1 Nonsynonymous SNV R2926Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.53 326186 chr2 73959368 73959368 A G TPRKB Synonymous SNV V62V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.743 326187 chr2 74042613 74042613 G A C2orf78 Synonymous SNV K421K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.765 326188 chr21 32526652 32526652 C G rs748689883 TIAM1 Nonsynonymous SNV Q61H 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 326189 chr21 34861076 34861076 G C DNAJC28 Nonsynonymous SNV Q209E 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 326190 chr2 97164145 97164145 C T rs369420761 NEURL3 Nonsynonymous SNV A209T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 326191 chr10 63760040 63760040 C T rs761173708 ARID5B Synonymous SNV H231H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 326192 chr1 185833714 185833714 G A HMCN1 Nonsynonymous SNV R151Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 326193 chr21 40571389 40571389 G A BRWD1 Synonymous SNV S1651S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.32 326194 chr3 111793245 111793245 A G TMPRSS7 Nonsynonymous SNV D464G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 326195 chr1 202698837 202698837 - A KDM5B Stop gain E1454* 0.001 0 0 0 1 0 0 0 0 0 0 0 326196 chr10 73437310 73437310 G A rs779335536 CDH23 Nonsynonymous SNV G538R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 326197 chr1 204218322 204218322 C T rs970345344 PLEKHA6 Nonsynonymous SNV R555Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 326198 chr10 77161112 77161112 - CCGCCTCCGCCG ZNF503 G27_A28insGGGG 0.001 0 0 0 1 0 0 0 0 0 0 0 326199 chr21 45746132 45746132 A C rs11558848 PFKL Nonsynonymous SNV K727T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.75 326200 chr10 71168685 71168685 A G TACR2 Nonsynonymous SNV M245T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 326201 chr21 33318414 33318414 G A HUNK Nonsynonymous SNV S226N 0 0 0 1 0 0 0.003 0 0 0 0 0 31 326202 chr3 124748183 124748183 C T HEG1 Nonsynonymous SNV A156T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 326203 chr10 95441306 95441306 A C rs375390820 FRA10AC1 Nonsynonymous SNV C240G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 326204 chr10 96954419 96954419 G T ACSM6 Nonsynonymous SNV W59C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 326205 chr3 128341156 128341156 C T rs774796099 RPN1 Nonsynonymous SNV E498K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 326206 chr10 95415567 95415567 T C rs760457327 PDE6C Synonymous SNV I662I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.227 326207 chr22 24124607 24124607 C T rs368090176 MMP11 Nonsynonymous SNV R424C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326208 chr3 141161275 141161275 C T rs766757708 ZBTB38 Synonymous SNV H15H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.356 326209 chr3 142257354 142257354 G T rs201150434 ATR Nonsynonymous SNV A1168D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 326210 chr22 17619089 17619089 A C rs374600970 HDHD5 Nonsynonymous SNV V335G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 326211 chr22 32627042 32627042 G A SLC5A4 Nonsynonymous SNV P348S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 326212 chr1 231377150 231377150 C T rs113480953 GNPAT Nonsynonymous SNV S9F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.72 326213 chr22 36678782 36678782 C T rs115031369 MYH9 Nonsynonymous SNV A1939T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.549 326214 chr22 36696278 36696278 G A rs374840260 MYH9 Synonymous SNV S957S 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 15.35 326215 chr3 15298662 15298662 T A rs201270033 SH3BP5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.55 326216 chr22 37962569 37962569 C T rs776700659 CDC42EP1 Synonymous SNV S71S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.61 326217 chr22 23230314 23230314 G A rs56055217 IGLL5 Synonymous SNV L27L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.658 326218 chr22 41832929 41832929 C G TOB2 Nonsynonymous SNV V141L 0 0 0 1 0 0 0.003 0 0 0 0 0 15.15 326219 chr22 42610029 42610029 G A TCF20 Nonsynonymous SNV P428L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 326220 chr3 183957320 183957320 G A VWA5B2 Nonsynonymous SNV G563S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.038 326221 chr22 44489850 44489850 C G rs34476853 PARVB Nonsynonymous SNV P15R 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 29.5 326222 chr22 46659023 46659023 G T PKDREJ Nonsynonymous SNV A66E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.154 326223 chr22 50665440 50665440 G A rs145215576 TUBGCP6 Synonymous SNV A493A 0 0 0 1 0 0 0.003 0 0 0 0 0 10.35 326224 chr22 50688563 50688563 G A rs757390436 HDAC10 Synonymous SNV A106A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.708 326225 chr11 563281 563281 G A rs150125797 RASSF7 Synonymous SNV P305P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 326226 chr3 33650084 33650084 C T rs558837241 CLASP2 Nonsynonymous SNV E242K 0 0 0.003 0 0 0 0 1 0 0 0 0 29 326227 chr3 38048433 38048433 - TCTA rs564620868 VILL Frameshift insertion D621Lfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 326228 chr22 43555407 43555407 A G TSPO Nonsynonymous SNV T55A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.56 326229 chrX 40996252 40996252 T C USP9X Nonsynonymous SNV S211P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.56 326230 chr11 128856476 128856476 C G rs765818294 ARHGAP32 Synonymous SNV L99L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 326231 chrX 49099379 49099379 T C rs142489693 CCDC22 Nonsynonymous SNV I130T 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.8 326232 chrX 57337141 57337141 A G FAAH2 Nonsynonymous SNV K131E 0 0 0 1 0 0 0.003 0 0 0 0 0 26 326233 chrX 72899163 72899163 C T rs747793335 CHIC1 Synonymous SNV T170T 0 0 0 1 0 0 0.003 0 0 0 0 0 13.19 326234 chrX 76709732 76709732 G A FGF16 Nonsynonymous SNV R29Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 326235 chr9 15594102 15594102 T C rs752388745 CCDC171 Synonymous SNV L203L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.267 326236 chr11 19246348 19246348 C T rs377703121 E2F8 Nonsynonymous SNV E821K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 326237 chr9 26923303 26923303 T C rs370728877 PLAA Synonymous SNV T304T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.259 326238 chr3 4735408 4735408 G A rs749426335 ITPR1 Nonsynonymous SNV E1407K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 326239 chrX 114424947 114424947 C G rs782276686 RBMXL3 Nonsynonymous SNV P315A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.507 326240 chr9 34257747 34257747 A G rs764309556 KIF24 Nonsynonymous SNV F620L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.643 326241 chr2 45807098 45807098 A G SRBD1 Synonymous SNV L330L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 326242 chr2 48132674 48132674 C T rs770922020 FBXO11 Synonymous SNV P62P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 326243 chr9 35091540 35091540 G C rs781337732 PIGO Nonsynonymous SNV P782A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.32 326244 chr9 35699981 35699981 T C rs760753833 TLN1 Nonsynonymous SNV H2253R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 326245 chr9 35714628 35714628 C T rs749970598 TLN1 Synonymous SNV Q976Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.99 326246 chr3 52489709 52489709 G A NISCH Nonsynonymous SNV E18K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 326247 chr3 52539378 52539378 G A rs780169030 STAB1 Nonsynonymous SNV R521H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 326248 chrX 152770326 152770326 G A BGN Synonymous SNV L79L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.11 326249 chr3 54928652 54928652 C T rs144940648 CACNA2D3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.277 326250 chrX 153696794 153696794 C T rs202189139 PLXNA3 Nonsynonymous SNV A1371V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.59 326251 chr11 40136647 40136647 T G rs149977458 LRRC4C Nonsynonymous SNV Y399S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.86 326252 chr2 73675580 73675580 C T rs745591025 ALMS1 Synonymous SNV T641T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.91 326253 chrX 100749038 100749038 C - ARMCX4 A1821Vfs*41 0 0 0 1 0 0 0.003 0 0 0 0 0 326254 chrX 100749040 100749044 GAGGC - ARMCX4 E1822Wfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 326255 chr3 9034605 9034605 C A rs150617309 SRGAP3 Nonsynonymous SNV G824V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 326256 chr3 97887667 97887667 A T rs113970928 OR5H15 Nonsynonymous SNV N42Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 326257 chr3 98002446 98002446 G A rs111235306 OR5H2 Nonsynonymous SNV V239I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.155 326258 chrX 123467809 123467809 G A rs774153637 TEX13D Nonsynonymous SNV G348R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.163 326259 chr3 9970073 9970073 C T rs141178913 IL17RC Nonsynonymous SNV S281L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.862 326260 chrX 135278980 135278980 T C rs745876962 FHL1 Nonsynonymous SNV S7P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.05 326261 chr1 3732862 3732862 C A rs185664269 CEP104 Nonsynonymous SNV A882S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 9.069 326262 chrX 147743641 147743641 T C rs148418993 AFF2 Synonymous SNV H127H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 326263 chr2 86737593 86737593 C T rs746864912 CHMP3, RNF103-CHMP3 Nonsynonymous SNV R33Q 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 326264 chr1 7740246 7740246 C A CAMTA1 Nonsynonymous SNV S5Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.485 326265 chr4 119059265 119059265 C G NDST3 Synonymous SNV V427V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 326266 chr11 774010 774010 T A rs372519182 GATD1 Nonsynonymous SNV D32V 0.001 0 0 0 1 0 0 0 0 0 0 0 25 326267 chr4 123249341 123249341 G C rs200450013 KIAA1109 Nonsynonymous SNV C3693S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 326268 chr11 5079980 5079980 T C rs538369065 OR52E2 Nonsynonymous SNV Y293C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 326269 chr2 128747417 128747417 C T rs763709582 SAP130 Nonsynonymous SNV A527T 0.001 0 0 0 1 0 0 0 0 0 0 0 28 326270 chr4 142951361 142951361 C T rs534382762 INPP4B Nonsynonymous SNV A913T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 326271 chr4 147215210 147215210 T A SLC10A7 Nonsynonymous SNV K185M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 326272 chrX 49034778 49034778 C T rs782062402 PRICKLE3 Nonsynonymous SNV R136H 0.002 0 0 0 2 0 0 0 1 0 0 0 33 326273 chr4 152682107 152682107 A G rs940439542 GATB Nonsynonymous SNV C10R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 326274 chr12 110342573 110342573 A T rs199975433 TCHP Nonsynonymous SNV K144I 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 326275 chr1 17326958 17326958 G A rs780133367 ATP13A2 Synonymous SNV Y254Y 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 7.253 326276 chr1 24718085 24718085 A T STPG1 Nonsynonymous SNV F52Y 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 326277 chr2 162087881 162087885 ACAAA - TANK T309Afs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 326278 chr1 17944954 17944954 C A rs558404593 ARHGEF10L Nonsynonymous SNV H36N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.92 326279 chr1 26152873 26152873 G A rs34991366 MTFR1L Synonymous SNV A70A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.97 326280 chr4 24801183 24801183 G A SOD3 Nonsynonymous SNV G14S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 326281 chr4 25270096 25270096 A T rs149385911 PI4K2B Synonymous SNV A370A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.907 326282 chr4 3257517 3257517 G A rs61746697 MSANTD1 Nonsynonymous SNV R221Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 326283 chr1 28599885 28599885 G A rs371066600 SESN2 Nonsynonymous SNV R256H 0 0 0 1 0 0 0.003 0 0 0 0 0 16.57 326284 chr1 11024303 11024303 C T rs778122355 C1orf127 Nonsynonymous SNV R133K 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24.2 326285 chr1 32279764 32279764 G A rs769251963 SPOCD1 Nonsynonymous SNV R391W 0 0 0 1 0 0 0.003 0 0 0 0 0 12.71 326286 chr1 37979134 37979134 T C rs141015710 MEAF6 Synonymous SNV T32T 0 0 0 1 0 0 0.003 0 0 0 0 0 5.113 326287 chr11 58980132 58980132 G C MPEG1 Nonsynonymous SNV N69K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.223 326288 chr4 48501697 48501697 T G rs778090224 FRYL Nonsynonymous SNV R2928S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 326289 chr1 40922745 40922745 T A rs374465739 ZFP69B 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 326290 chr11 60620219 60620219 A C PTGDR2 Nonsynonymous SNV V326G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 326291 chr4 6925479 6925479 A G rs753567001 TBC1D14 Synonymous SNV E121E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.391 326292 chr12 14995906 14995906 C G ART4 Nonsynonymous SNV E48Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.675 326293 chr4 76857354 76857354 C T rs369955132 NAAA Nonsynonymous SNV G136S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 326294 chr9 5066768 5066768 T C JAK2 Synonymous SNV Y286Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.05 326295 chr4 8230168 8230168 C T rs773689900 SH3TC1 Nonsynonymous SNV A840V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.115 326296 chr2 219221787 219221787 T C CATIP Nonsynonymous SNV S10P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.788 326297 chr1 26608955 26608955 T C rs759454022 UBXN11 Synonymous SNV A346A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.38 326298 chr4 86916705 86916705 T C rs749403214 ARHGAP24 Nonsynonymous SNV F440S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 326299 chr2 225360666 225360666 A T rs775960359 CUL3 Synonymous SNV V509V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.58 326300 chr2 225661833 225661833 C T rs746599099 DOCK10 Nonsynonymous SNV D1553N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 326301 chr1 31454250 31454250 C T rs756179014 PUM1 Synonymous SNV L387L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.28 326302 chr11 6424630 6424630 T A rs370118988 APBB1 Nonsynonymous SNV E100V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.16 326303 chr11 6424925 6424925 G A rs139929849 APBB1 Synonymous SNV P63P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 326304 chr1 78435651 78435651 C T FUBP1 Nonsynonymous SNV D57N 0 0 0 1 0 0 0.003 0 0 0 0 0 23 326305 chr11 67817615 67817615 C T rs533903819 TCIRG1 Synonymous SNV S494S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 326306 chr5 112927750 112927750 G C rs746080093 YTHDC2 Nonsynonymous SNV A1063P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.73 326307 chr11 69063507 69063507 C T rs761778980 MYEOV Nonsynonymous SNV A139V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.825 326308 chr11 69972296 69972296 C T rs778326070 ANO1 Synonymous SNV I364I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 326309 chr5 128797210 128797210 C T rs777419049 ADAMTS19 Synonymous SNV D169D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 326310 chr1 94342819 94342819 T G DNTTIP2 Synonymous SNV G224G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.096 326311 chr11 67167072 67167072 G A rs765435540 PPP1CA Synonymous SNV I117I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.283 326312 chr11 74952347 74952347 G C rs746529586 TPBGL Nonsynonymous SNV G85R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 326313 chr11 67402373 67402373 G C rs144542807 TBX10 Synonymous SNV P97P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.087 326314 chr1 102270330 102270330 A G OLFM3 Nonsynonymous SNV S301P 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 326315 chr11 774053 774053 G A rs781555876 GATD1 Nonsynonymous SNV R18C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 326316 chr1 110921483 110921483 G A rs751680951 SLC16A4 Nonsynonymous SNV S231F 0 0.003 0 1 0 1 0.003 0 0 0 0 0 24.7 326317 chr11 82888800 82888800 G C PCF11 Nonsynonymous SNV D1439H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 326318 chr5 140712112 140712112 - TGCACACGGGCGAGG rs749357972 PCDHGA1 V626_R627insHTGEV 0 0 0.003 0 0 0 0 1 0 0 0 0 326319 chr1 113126598 113126598 T C rs756797039 ST7L Synonymous SNV Q101Q 0 0 0 1 0 0 0.003 0 0 0 0 0 1.483 326320 chr5 140752321 140752321 G A rs201408759 PCDHGB3 Stop gain W787X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 326321 chr5 140802148 140802148 G A PCDHGA11 Nonsynonymous SNV V452I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 326322 chr5 141248704 141248704 G A rs144193789 PCDH1 Synonymous SNV T127T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.192 326323 chr1 62235027 62235027 A G rs61750905 PATJ Nonsynonymous SNV R153G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 326324 chr1 74648448 74648448 C A LRRIQ3 Nonsynonymous SNV C116F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 326325 chr3 17209309 17209309 C A rs752895817 TBC1D5 Nonsynonymous SNV D486Y 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326326 chr1 151259604 151259604 C T rs151093902 ZNF687 Synonymous SNV P279P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 5.13 326327 chr1 154171964 154171964 T A C1orf189 Nonsynonymous SNV H82L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 326328 chr11 93470310 93470312 ATC - rs765094726 TAF1D D185del 0.001 0 0 0 1 0 0 0 0 0 0 0 326329 chr1 155291820 155291820 G A RUSC1 Nonsynonymous SNV D86N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.19 326330 chr11 94861961 94861961 C A rs200529219 ENDOD1 Synonymous SNV R241R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 326331 chr5 175782664 175782664 G A rs771189456 KIAA1191 Synonymous SNV D20D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.744 326332 chr5 176011668 176011668 G A rs140060868 CDHR2 Nonsynonymous SNV V796M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 326333 chr3 42775064 42775064 C A rs201282842 CCDC13 Nonsynonymous SNV G470V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.999 326334 chr12 113602036 113602036 C T rs201522087 DDX54 Nonsynonymous SNV A592T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 326335 chr1 151678723 151678725 TGC - rs777856157 CELF3 Q323del 0 0 0 1 0 0 0.003 0 0 0 0 0 326336 chr5 35667260 35667260 T C rs772719768 SPEF2 Synonymous SNV A418A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.776 326337 chr10 133761071 133761071 C T rs782484643 PPP2R2D Synonymous SNV F121F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 326338 chr5 35763801 35763801 C T SPEF2 Synonymous SNV H1266H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.403 326339 chr1 167742535 167742535 C G MPZL1 Nonsynonymous SNV L179V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.27 326340 chr1 168054946 168054946 C T rs112752784 GPR161 Synonymous SNV E393E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.75 326341 chr1 170695478 170695478 A G PRRX1 Nonsynonymous SNV I179V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.702 326342 chr12 129180414 129180414 G T TMEM132C Synonymous SNV R565R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.076 326343 chr10 135106550 135106550 G A rs141042122 TUBGCP2 Synonymous SNV A209A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.549 326344 chr5 52189563 52189563 A C rs150009527 ITGA1 Nonsynonymous SNV K328Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.09 326345 chr3 57314488 57314488 A G ASB14 Synonymous SNV H243H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.631 326346 chr1 201175796 201175796 C T rs566299373 IGFN1 Nonsynonymous SNV A592V 0 0 0 1 0 0 0.003 0 0 0 0 0 12.13 326347 chr5 75885538 75885538 G A rs777493680 IQGAP2 Nonsynonymous SNV V159M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 326348 chr5 76704736 76704736 G A PDE8B Nonsynonymous SNV A365T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 326349 chr1 203690509 203690509 T C ATP2B4 Nonsynonymous SNV L928P 0 0 0 1 0 0 0.003 0 0 0 0 0 25 326350 chr1 204234121 204234121 C T rs758912283 PLEKHA6 Synonymous SNV R110R 0 0 0 1 0 0 0.003 0 0 0 0 0 13.9 326351 chr5 90025559 90025559 C T rs201475256 ADGRV1 Synonymous SNV S3509S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.87 326352 chr14 100792542 100792542 C T rs368400992 SLC25A47 Nonsynonymous SNV R41W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 326353 chr1 169806227 169806227 C T rs141448631 C1orf112 Nonsynonymous SNV R244C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 326354 chr3 124117655 124117655 C T rs375653971 KALRN Synonymous SNV H759H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.95 326355 chr6 108668210 108668210 C G rs147480760 AFG1L Nonsynonymous SNV P128A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 326356 chr6 109770936 109770936 C T rs781333142 MICAL1 Nonsynonymous SNV R367H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 326357 chr6 109774875 109774875 G A rs555685566 MICAL1 Synonymous SNV Y144Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.228 326358 chr6 11190982 11190982 C T rs141417391 NEDD9 Nonsynonymous SNV G225S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 326359 chr12 53069241 53069241 - CCACGGCCGCCGCCGCCAC KRT1 Frameshift insertion S557Rfs*103 0.001 0 0 0 1 0 0 0 0 0 0 0 326360 chr12 53069243 53069243 - CCAGAGCCATAGCTGCC KRT1 Frameshift insertion S557Gfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 326361 chr3 136059438 136059438 T C STAG1 Synonymous SNV L1189L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.604 326362 chr3 142731080 142731080 C T rs746804665 U2SURP Nonsynonymous SNV P36L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.8 326363 chr3 149093351 149093351 G A rs773561150 TM4SF1 Nonsynonymous SNV L98F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.039 326364 chr1 234895536 234895536 C T rs911602219 PP2672 0 0 0 1 0 0 0.003 0 0 0 0 0 2.078 326365 chr3 158310248 158310248 A G rs368107623 MLF1 Nonsynonymous SNV N25D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.43 326366 chr3 165491185 165491185 A G rs148569288 BCHE Synonymous SNV S598S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.221 326367 chr1 201752640 201752640 A G rs776494169 NAV1 Nonsynonymous SNV K431E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 326368 chr6 158363867 158363867 G A rs760693330 SNX9 Nonsynonymous SNV M595I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 326369 chr6 158454623 158454623 C T rs773216272 SYNJ2 Nonsynonymous SNV R208C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 326370 chr10 95658400 95658400 T C SLC35G1 Nonsynonymous SNV V84A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 326371 chr1 247875590 247875590 A G rs777425536 OR6F1 Synonymous SNV I156I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.816 326372 chr1 206320307 206320307 C T rs74145077 CTSE Synonymous SNV A75A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.22 326373 chr12 75824881 75824882 AG - rs759365647 GLIPR1L2 E328Gfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 326374 chr1 207651374 207651374 C T rs138062179 CR2 Nonsynonymous SNV S957L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.07 326375 chr1 207803958 207803958 A T rs189822933 CR1 Nonsynonymous SNV E2033D 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 326376 chr1 208252608 208252608 G A rs17011880 PLXNA2 Synonymous SNV T861T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.669 326377 chr6 168349125 168349125 C T rs147665327 AFDN Synonymous SNV H1242H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.445 326378 chr1 209933608 209933608 A G rs144881169 TRAF3IP3 Nonsynonymous SNV E75G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 24.6 326379 chr6 17601330 17601330 G T FAM8A1 Synonymous SNV P230P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 326380 chr2 1652410 1652410 C T rs61735716 PXDN Nonsynonymous SNV G1048R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 326381 chr2 11809859 11809859 G C rs781174478 NTSR2 Nonsynonymous SNV R133G 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 326382 chr2 15743344 15743344 T C rs2302933 DDX1 Synonymous SNV H140H 0 0 0 1 0 0 0.003 0 0 0 0 0 1.715 326383 chr6 2890726 2890726 G A rs151123105 SERPINB9 Nonsynonymous SNV L268F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 326384 chr2 26410831 26410831 G A rs201944096 GAREM2 Nonsynonymous SNV R777H 0 0 0 1 0 0 0.003 0 0 0 0 0 21.3 326385 chr2 26508330 26508330 G A rs398123239 HADHB Nonsynonymous SNV G412E 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 33 326386 chr13 111290824 111290824 C T rs114275451 NAXD Stop gain R377X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 326387 chr13 113153248 113153248 A T rs377093499 TUBGCP3 Synonymous SNV V817V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.716 326388 chr13 113669101 113669101 T C rs761108440 MCF2L Nonsynonymous SNV V35A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 326389 chr6 41739263 41739263 G C rs772401685 FRS3 Synonymous SNV T191T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.512 326390 chr1 233394653 233394653 C T rs377165602 PCNX2 Nonsynonymous SNV V319M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.532 326391 chr4 7774568 7774568 C G rs371010102 AFAP1 Nonsynonymous SNV K660N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 326392 chr4 7994630 7994630 G A rs763457214 ABLIM2 Nonsynonymous SNV P249L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 326393 chr6 43029152 43029152 C T rs149718842 KLC4 Nonsynonymous SNV R27W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 326394 chr13 103388631 103388631 T A rs957710552 CCDC168 Nonsynonymous SNV M4806L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.828 326395 chr13 32783757 32783757 T C rs373212188 FRY Synonymous SNV N1437N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.589 326396 chr4 36230821 36230821 T C ARAP2 Synonymous SNV P96P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 326397 chr13 45149752 45149752 C G rs139537347 TSC22D1 Nonsynonymous SNV E153D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 326398 chr2 61235971 61235971 C T PUS10 Synonymous SNV K102K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.277 326399 chr6 52876906 52876906 C T rs746157329 ICK Synonymous SNV L424L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 326400 chr6 56484800 56484800 T C DST Synonymous SNV T1344T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.902 326401 chr14 100615845 100615845 C T rs753382176 DEGS2 Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.354 326402 chr4 72629217 72629217 T C GC Synonymous SNV R203R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 326403 chr11 1586967 1586967 G T DUSP8 Synonymous SNV I30I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 326404 chr14 104195258 104195258 C T rs368861144 ZFYVE21 Synonymous SNV L124L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 326405 chr14 104618716 104618716 C T rs759188299 KIF26A Nonsynonymous SNV T218M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 326406 chr14 105174056 105174056 T C rs371775604 INF2 Synonymous SNV C484C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.045 326407 chr11 17742987 17742987 C T rs754751891 MYOD1 Stop gain Q299X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 326408 chr13 74420427 74420427 C T rs189548395 KLF12 Synonymous SNV S69S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 326409 chr13 74518187 74518187 G A KLF12 Synonymous SNV N18N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.413 326410 chr14 20345166 20345168 TCT - rs748825062 OR4K2 F248del 0.001 0 0 0 1 0 0 0 0 0 0 0 326411 chr2 108924915 108924915 C T rs753618672 SULT1C2 Nonsynonymous SNV L296F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 326412 chr14 20470503 20470503 A G rs556584513 OR4Q2 Nonsynonymous SNV Y61C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 326413 chr14 20502159 20502159 C T rs114482368 OR4K13 Synonymous SNV P253P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.383 326414 chr2 26534898 26534898 C T rs149862488 ADGRF3 Synonymous SNV R367R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.58 326415 chr2 26818053 26818053 G A rs371025862 CIB4 Nonsynonymous SNV R107C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 326416 chr2 27601088 27601088 C T rs201047611 ZNF513 Nonsynonymous SNV R255Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 326417 chr14 21867850 21867850 C G CHD8 Nonsynonymous SNV W1611S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 326418 chr14 105181123 105181123 C T INF2 Synonymous SNV P1208P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 326419 chr2 72374942 72374942 G C CYP26B1 Nonsynonymous SNV L8V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.3 326420 chr14 24046564 24046564 G A JPH4 Synonymous SNV P33P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 326421 chr14 24546209 24546209 C T rs777727487 CPNE6 Synonymous SNV T429T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 326422 chr2 38156541 38156541 G A RMDN2 Nonsynonymous SNV E41K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.065 326423 chr14 24807108 24807108 C T rs114213493 RIPK3 Nonsynonymous SNV S268N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 326424 chr14 31576409 31576409 T C rs200221120 HECTD1 Synonymous SNV S2223S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.569 326425 chr2 165947764 165947764 A T rs748935500 SCN3A Synonymous SNV R1584R 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.715 326426 chr7 128451873 128451873 A G rs186600964 CCDC136 Nonsynonymous SNV E683G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.96 326427 chr7 128494477 128494477 C T rs1042317054 FLNC Synonymous SNV S2213S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 326428 chr14 36982445 36982445 C T SFTA3 0.001 0 0 0 1 0 0 0 0 0 0 0 9.2 326429 chr2 168104766 168104766 C T XIRP2 Synonymous SNV P2066P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.962 326430 chr7 130418557 130418557 C T rs782497758 KLF14 Nonsynonymous SNV E102K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 326431 chr14 45590113 45590113 C T FKBP3 Nonsynonymous SNV G167R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326432 chr14 51226839 51226839 T - NIN K712Rfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 326433 chr2 64083565 64083565 G A UGP2 Nonsynonymous SNV E38K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.44 326434 chr2 179251864 179251864 A G rs756683246 OSBPL6 Synonymous SNV P687P 0.001 0 0 1 1 0 0.003 0 0 0 0 0 11.11 326435 chr7 141920567 141920567 C T MGAM2 Nonsynonymous SNV P2086S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 326436 chr7 142962196 142962196 G T rs201201238 GSTK1 Nonsynonymous SNV G132V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 326437 chr2 179489340 179489340 C G rs746287950 TTN Synonymous SNV G5824G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.1 326438 chr2 179643733 179643733 T C rs370978752 TTN Nonsynonymous SNV E1313G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 326439 chr2 179647078 179647078 C A rs55914517 TTN Nonsynonymous SNV A1035S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.82 326440 chr2 121992835 121992835 G A rs753224324 TFCP2L1 Synonymous SNV P352P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.6 326441 chr5 140781 140781 G A rs143686104 PLEKHG4B Nonsynonymous SNV G476E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.35 326442 chr7 157475449 157475449 C T rs375618636 PTPRN2 Nonsynonymous SNV D619N 0 0 0.003 0 0 0 0 1 0 0 0 0 24 326443 chr14 54878231 54878231 A G CDKN3 Nonsynonymous SNV I35V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.22 326444 chr14 74179325 74179327 CCT - rs747374853 PNMA1 E339del 0.001 0 0 0 1 0 0 0 0 0 0 0 326445 chr14 59819344 59819344 T C DAAM1 Nonsynonymous SNV M754T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 326446 chr2 196891655 196891655 A G DNAH7 Nonsynonymous SNV Y166H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 326447 chr2 198953707 198953707 G T rs370504499 PLCL1 Nonsynonymous SNV M947I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 326448 chr7 25264792 25264792 C A rs778969544 NPVF Nonsynonymous SNV R180S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 326449 chr2 103340233 103340233 C A rs55839709 MFSD9 Nonsynonymous SNV G127V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 326450 chr14 64580232 64580232 G A rs373978139 SYNE2 Synonymous SNV P4261P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.2 326451 chr2 202900784 202900784 G T FZD7 Nonsynonymous SNV G472C 0 0 0 1 0 0 0.003 0 0 0 0 0 31 326452 chr2 109088535 109088535 A C rs778966752 GCC2 Nonsynonymous SNV E917A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 326453 chr5 34914830 34914830 T C rs372145827 RAD1 Synonymous SNV A56A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.446 326454 chr7 32609721 32609721 C T rs751984269 AVL9 Synonymous SNV N435N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 326455 chr14 89202845 89202845 T C EML5 Synonymous SNV E304E 0.001 0 0 0 1 0 0 0 0 0 0 0 2.578 326456 chr5 38486069 38486069 T C rs371539913 LIFR Nonsynonymous SNV I783M 0.001 0 0 0 1 0 0 0 0 0 0 0 3.118 326457 chr14 91791257 91791257 G T CCDC88C Nonsynonymous SNV T403K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 326458 chr7 43503259 43503259 G A rs756596751 HECW1 Synonymous SNV R850R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 326459 chr7 45005794 45005794 C T rs145905005 MYO1G Nonsynonymous SNV G679R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 326460 chr7 45122123 45122123 G A rs61740897 NACAD Nonsynonymous SNV T1219M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.517 326461 chr15 100649262 100649262 C T rs145922030 ADAMTS17 Nonsynonymous SNV D650N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 326462 chr2 220347820 220347820 C T rs113853448 SPEG Nonsynonymous SNV R1879C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 326463 chr2 152353487 152353487 T G rs1023273765 NEB Synonymous SNV R8121R 0.001 0 0 0 1 0 0 0 0 0 0 0 4.659 326464 chr2 152353497 152353497 A G NEB Synonymous SNV P8117P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.408 326465 chr2 152353511 152353511 G A NEB Synonymous SNV L8113L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.256 326466 chr2 152353515 152353515 G A NEB Synonymous SNV T8111T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.999 326467 chr7 5104665 5104665 C T rs761019553 RBAK Synonymous SNV F526F 0 0 0.003 0 0 0 0 1 0 0 0 0 3.697 326468 chr5 75969349 75969349 T G rs781182651 IQGAP2 Nonsynonymous SNV I544M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 326469 chr15 37375994 37375994 G A rs61734550 MEIS2 Synonymous SNV S231S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.12 326470 chr2 163228356 163228356 C T KCNH7 Nonsynonymous SNV G1192S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 326471 chr2 233897525 233897525 C T rs2233386 NEU2 Synonymous SNV H48H 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 326472 chr2 234740115 234740115 C - rs570814019 MROH2A S1558Qfs*12 0 0 0 1 0 0 0.003 0 0 0 0 0 326473 chr2 237489827 237489827 C T rs199716485 ACKR3 Nonsynonymous SNV S240L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.38 326474 chr2 176972637 176972637 C A rs746902459 HOXD11 Nonsynonymous SNV A185E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 326475 chr2 239010599 239010599 C T rs753921417 ESPNL Synonymous SNV G104G 0 0 0 1 0 0 0.003 0 0 0 0 0 16.97 326476 chr15 44876623 44876623 A - rs312262763 SPG11 F1752Sfs*86 0.001 0 0 0 1 0 0 0 0 0 0 0 326477 chr5 112769681 112769681 T C rs761963339 TSSK1B Nonsynonymous SNV K286E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.284 326478 chr2 180842946 180842946 C T rs61745754 CWC22 Synonymous SNV E184E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.29 326479 chr8 103236284 103236284 T C rs200301242 RRM2B Synonymous SNV K128K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.266 326480 chr8 11615803 11615803 C T rs759067821 GATA4 Nonsynonymous SNV T384M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 326481 chr3 9870973 9870973 C A rs141804874 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV T626N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 326482 chr3 9870991 9870991 G C rs138074068 ARPC4-TTLL3, TTLL3 Nonsynonymous SNV G632A 0 0 0 1 0 0 0.003 0 0 0 0 0 3.055 326483 chr11 6585095 6585095 G A rs777567024 DNHD1 Nonsynonymous SNV R3342Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 326484 chr3 15073921 15073921 C T rs373834430 NR2C2 Synonymous SNV N382N 0 0 0 1 0 0 0.003 0 0 0 0 0 17.16 326485 chr15 69689691 69689691 A G LOC145694 0.001 0 0 0 1 0 0 0 0 0 0 0 4.946 326486 chr3 16216870 16216870 C T GALNT15 Nonsynonymous SNV A71V 0 0 0 1 0 0 0.003 0 0 0 0 0 21 326487 chr15 72432132 72432132 T G rs748611390 SENP8 Synonymous SNV P56P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.203 326488 chr15 56208865 56208865 C G NEDD4 Nonsynonymous SNV Q55H 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 326489 chr3 37365948 37365948 T C GOLGA4 Synonymous SNV D857D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.021 326490 chr3 38051933 38051933 T C PLCD1 Nonsynonymous SNV H325R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 326491 chr8 144413485 144413485 G A rs147991386 TOP1MT Synonymous SNV D49D 0 0 0.007 0 0 0 0 2 0 0 1 0 6.606 326492 chr5 141358095 141358095 C T rs748557080 RNF14 Synonymous SNV D52D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.28 326493 chr3 38354499 38354499 G A rs547214648 SLC22A14 Synonymous SNV P318P 0 0 0 1 0 0 0.003 0 0 0 0 0 6.708 326494 chr15 78893741 78893741 A C rs74381441 CHRNA3 Nonsynonymous SNV F415V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.805 326495 chr8 144691628 144691628 C G PYCR3 Nonsynonymous SNV G31R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 326496 chr2 220283725 220283725 G A DES Nonsynonymous SNV D181N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 326497 chr8 144885935 144885935 C T rs781995997 SCRIB Nonsynonymous SNV R1099Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.32 326498 chr8 145006606 145006606 G A rs201238023 PLEC Nonsynonymous SNV R633C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.7 326499 chr16 89627854 89627854 C T rs766094129 SNORD68 0.001 0 0 0 1 0 0 0 0 0 0 0 9.899 326500 chr8 145616066 145616066 G C rs148583297 ADCK5 Nonsynonymous SNV G118A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 326501 chr15 75047169 75047169 C T rs28399424 CYP1A2 Nonsynonymous SNV R431W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 326502 chr5 159842258 159842258 G A rs145425461 SLU7 Nonsynonymous SNV S30L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.4 326503 chr8 145731625 145731625 C G rs141381983 GPT Nonsynonymous SNV R323G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 326504 chr8 145746758 145746758 G A rs746577507 LRRC14 Nonsynonymous SNV V460I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.89 326505 chr8 146036169 146036169 G A rs185173609 LOC100130027 0 0 0.003 0 0 0 0 1 0 0 0 0 4.863 326506 chr3 47312936 47312936 C T rs747606222 KIF9 Nonsynonymous SNV E128K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 326507 chr3 47451438 47451438 C T rs745783479 PTPN23 Nonsynonymous SNV P591L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 326508 chr2 233208253 233208253 G T rs1048505602 DIS3L2 Nonsynonymous SNV V594L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.698 326509 chr3 49160746 49160746 T C rs771215576 LAMB2 Nonsynonymous SNV N1348S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22 326510 chr15 91491455 91491455 T G rs774300128 UNC45A Nonsynonymous SNV V415G 0.001 0 0.003 0 1 0 0 1 0 0 0 0 29.3 326511 chr3 52283327 52283327 G A rs778837489 PPM1M Synonymous SNV E196E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.263 326512 chr3 52324645 52324645 C T rs771236936 GLYCTK Nonsynonymous SNV A96V 0 0 0 1 0 0 0.003 0 0 0 0 0 21 326513 chr3 52475343 52475343 C T rs150876676 SEMA3G Synonymous SNV T250T 0 0 0 1 0 0 0.003 0 0 0 0 0 12.18 326514 chr16 11785439 11785439 G A rs778149263 TXNDC11 Nonsynonymous SNV S84F 0.001 0 0 0 1 0 0 0 0 0 0 0 23 326515 chr15 88576154 88576154 G A rs548610351 NTRK3 Nonsynonymous SNV R507C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326516 chr3 52833018 52833018 C G rs779224896 ITIH3 Nonsynonymous SNV R234G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 326517 chr3 54958748 54958748 A G rs778165020 LRTM1 Nonsynonymous SNV S92P 0 0 0 1 0 0 0.003 0 0 0 0 0 21 326518 chr8 30704039 30704039 T C rs778489725 TEX15 Nonsynonymous SNV D1215G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 326519 chr3 38164585 38164585 C T rs148896847 ACAA1 Nonsynonymous SNV G317R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 326520 chr3 38181886 38181886 G A MYD88 Nonsynonymous SNV M112I 0 0 0 1 0 0 0.003 0 0 0 0 0 13.31 326521 chr11 99715691 99715691 C G CNTN5 Nonsynonymous SNV P55A 0.001 0 0 0 1 0 0 0 0 0 0 0 24 326522 chr6 3105987 3105987 C T rs374657927 RIPK1 Synonymous SNV Y380Y 0.001 0 0 0 1 0 0 0 0 0 0 0 7.301 326523 chr16 16139720 16139720 G A rs8187853 ABCC1 Synonymous SNV T356T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.806 326524 chr8 37604883 37604883 C G LOC728024 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 326525 chr3 39150614 39150614 C T rs190808723 TTC21A Synonymous SNV H22H 0 0 0 1 0 0 0.003 0 0 0 0 0 9.337 326526 chr3 39179723 39179723 C T rs370507548 MIR6822 0 0 0 1 0 0 0.003 0 0 0 0 0 5.579 326527 chr3 5024720 5024720 A G BHLHE40 Synonymous SNV P194P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.893 326528 chr16 188304 188367 GAGGAGGACGGAGCCGGAGGCGGAGGGGGCCTGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT - NPRL3 0.001 0 0 0 1 0 0 0 0 0 0 0 326529 chr6 10410171 10410171 G C TFAP2A Nonsynonymous SNV S142W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 326530 chr6 12164308 12164308 G A rs181056704 HIVEP1 Nonsynonymous SNV A2591T 0.002 0 0 0 2 0 0 0 0 0 0 0 12.52 326531 chr3 97593324 97593324 G T rs73851081 CRYBG3 Nonsynonymous SNV G1096C 0 0 0 1 0 0 0.003 0 0 0 0 0 24 326532 chr3 97593336 97593336 A T rs73851082 CRYBG3 Nonsynonymous SNV T1100S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.256 326533 chr3 97596261 97596261 G A rs73851083 CRYBG3 Nonsynonymous SNV A2075T 0 0 0 1 0 0 0.003 0 0 0 0 0 28.4 326534 chr3 97596835 97596835 A G rs55680275 CRYBG3 Nonsynonymous SNV Y2266C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.776 326535 chr3 97598548 97598548 A - rs754738907 CRYBG3 N2282Mfs*7 0 0 0 1 0 0 0.003 0 0 0 0 0 326536 chr6 17799644 17799644 C A KIF13A Synonymous SNV L881L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 326537 chr3 12858702 12858702 T C rs761115545 CAND2 Synonymous SNV A664A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.844 326538 chr8 59571829 59571829 C G rs114872292 NSMAF Nonsynonymous SNV R26P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 326539 chr12 109702140 109702140 C T rs142105388 ACACB Synonymous SNV F2297F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.2 326540 chr16 24582988 24582988 C A rs763378882 RBBP6 Nonsynonymous SNV S1500Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.81 326541 chr12 109838954 109838954 C T rs138935511 MYO1H Synonymous SNV V193V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 326542 chr8 75615882 75615882 G A rs73339255 MIR2052HG 0 0 0.003 0 0 0 0 1 0 0 0 0 6.825 326543 chr12 112631445 112631445 G A rs753056151 HECTD4 Nonsynonymous SNV A2938V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 326544 chr12 112711540 112711540 G C rs924956842 HECTD4 Nonsynonymous SNV Q621E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 326545 chr3 48669475 48669475 C A rs552869747 SLC26A6 Nonsynonymous SNV G162W 0 0 0 1 0 0 0.003 0 0 0 0 0 13.76 326546 chr16 30537667 30537669 CTC - rs752073679 ZNF768 R22del 0.001 0 0 0 1 0 0 0 0 0 0 0 326547 chr16 30667521 30667521 T C rs145669264 PRR14 Synonymous SNV N549N 0.002 0 0 0 2 0 0 0 0 0 0 0 0.001 326548 chr16 19547718 19547718 C A CCP110 Nonsynonymous SNV Q243K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 326549 chr3 38414175 38414175 C T rs752578451 XYLB Synonymous SNV R128R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 326550 chr8 9759879 9759879 T C rs752873805 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 11.35 326551 chr3 50683655 50683655 C T rs187648751 MAPKAPK3 Synonymous SNV Y263Y 0 0 0 1 0 0 0.003 0 0 0 0 0 15.01 326552 chr16 20696600 20696600 A G rs937908791 ACSM1 Synonymous SNV C106C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 326553 chr3 52386622 52386622 G A rs181919231 DNAH1 Nonsynonymous SNV A976T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 28.6 326554 chr16 3339736 3339736 C A ZNF263 Nonsynonymous SNV D410E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 326555 chr16 3339738 3339738 G T ZNF263 Nonsynonymous SNV C411F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 326556 chr3 52539788 52539788 C T rs201452924 STAB1 Synonymous SNV L562L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 13.79 326557 chr16 3543962 3543962 G T rs759201180 C16orf90 Nonsynonymous SNV D142E 0.001 0 0 0 1 0 0 0 0 0 0 0 17.99 326558 chr9 105767103 105767103 C T rs375836898 CYLC2 Nonsynonymous SNV R103C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 326559 chr3 45266662 45266662 - GCGGCG TMEM158 A292_V293insAA 0.001 0 0 0 1 0 0 0 0 0 0 0 326560 chr3 128625054 128625054 C T rs777282696 ACAD9 Nonsynonymous SNV R414C 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely pathogenic 35 326561 chr3 47315105 47315105 G A rs757162512 KIF9 Synonymous SNV Y101Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.551 326562 chr12 132281875 132281875 A C rs781227535 SFSWAP Nonsynonymous SNV E896A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 326563 chr3 131068422 131068422 G A rs769588457 NEK11 Nonsynonymous SNV G443E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.637 326564 chr12 132633435 132633435 A G NOC4L Nonsynonymous SNV D299G 0.002 0 0 0 2 0 0 0 1 0 0 0 17.86 326565 chr12 133240651 133240651 T C rs539312991 POLE Nonsynonymous SNV N882S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.715 326566 chr16 66423310 66423310 G T CDH5 Nonsynonymous SNV R222S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 326567 chr16 68002521 68002521 C T rs563719406 SLC12A4 Nonsynonymous SNV G13R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 326568 chr3 53857426 53857426 C T rs771398046 CHDH Nonsynonymous SNV E204K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.07 326569 chr16 70553585 70553585 A G rs745672726 COG4 Nonsynonymous SNV I70T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 326570 chr9 130197477 130197477 A G rs377573055 ZNF79 Nonsynonymous SNV R48G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 326571 chr16 70601401 70601401 C A rs773770080 SF3B3 Nonsynonymous SNV L972M 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 326572 chr16 706747 706747 T C WDR90 Nonsynonymous SNV S740P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.07 326573 chr3 160120542 160120542 C T rs760279798 SMC4 Stop gain R133X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 326574 chr3 164777725 164777725 C T rs138434001 SI Nonsynonymous SNV V371M 0 0 0.003 1 0 0 0.003 1 0 0 0 0 Likely benign 26.3 326575 chr9 131396047 131396047 - CAGTC WDR34 Frameshift insertion C529Wfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 326576 chr3 169546620 169546620 C T rs780645218 LRRIQ4 Nonsynonymous SNV P365L 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 326577 chr3 169693406 169693406 A G SEC62 Nonsynonymous SNV E16G 0 0 0 1 0 0 0.003 0 0 0 0 0 32 326578 chr12 39973395 39973395 C T rs143197357 ABCD2 Nonsynonymous SNV D607N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 326579 chr3 179051576 179051576 T C rs750083683 ZNF639 Nonsynonymous SNV L275P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 326580 chr3 183689509 183689509 G C rs563074461 ABCC5 Nonsynonymous SNV R63G 0 0 0 1 0 0 0.003 0 0 0 0 0 6.982 326581 chr6 90605469 90605469 C T rs148483302 GJA10 Nonsynonymous SNV R428C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 326582 chr16 837570 837570 G C RPUSD1 Synonymous SNV T56T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.537 326583 chr16 841899 841899 C A CHTF18 Nonsynonymous SNV H385N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 326584 chr9 135801006 135801006 G A rs748669519 TSC1 Nonsynonymous SNV P111S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.5 326585 chr12 48250920 48250920 G C rs540774973 VDR Nonsynonymous SNV T192S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.396 326586 chr9 136291338 136291338 G C rs148312697 ADAMTS13 Nonsynonymous SNV D187H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 25.6 326587 chr6 107040038 107040038 C T rs772984484 RTN4IP1 0.001 0 0 0 1 0 0 0 0 0 0 0 28 326588 chr6 107076756 107076756 C A RTN4IP1 Synonymous SNV V47V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.45 326589 chr16 85010049 85010049 C G ZDHHC7 Nonsynonymous SNV G276A 0.001 0 0 0 1 0 0 0 0 0 0 0 31 326590 chr9 139234206 139234206 C T rs141313816 GPSM1 Synonymous SNV Y339Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.45 326591 chr9 139370890 139370890 C T rs373703673 SEC16A Nonsynonymous SNV G393D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.66 326592 chr3 190573572 190573572 C T GMNC Nonsynonymous SNV E173K 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 326593 chr3 193174896 193174896 G A rs758697257 ATP13A4 Nonsynonymous SNV S603L 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326594 chr12 52710340 52710340 T G KRT83 Nonsynonymous SNV E318A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 326595 chr3 121410009 121410009 G A rs116030179 GOLGB1 Synonymous SNV L2654L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.338 326596 chr6 127836700 127836700 C G rs762478499 SOGA3 Nonsynonymous SNV E354Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 326597 chr6 127836813 127836813 - CCG SOGA3 A315_E316insA 0.001 0 0 0 1 0 0 0 0 0 0 0 326598 chr16 88926074 88926074 C T rs148514448 TRAPPC2L Synonymous SNV Y70Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.745 326599 chr3 149193678 149193678 G A rs916056209 TM4SF4 Synonymous SNV E81E 0 0 0 1 0 0 0.003 0 0 0 0 0 3.204 326600 chr12 53345389 53345389 G A rs57354642 KRT18 Nonsynonymous SNV R261Q 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 10.72 326601 chr6 133777763 133777763 C T rs747223436 EYA4 Nonsynonymous SNV A93V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 326602 chr3 151134190 151134190 A G rs200352739 MED12L Nonsynonymous SNV M2095V 0 0 0 1 0 0 0.003 0 0 0 0 0 7.149 326603 chr6 136560675 136560675 T C rs150862357 MTFR2 Synonymous SNV R266R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.049 326604 chr6 136990522 136990522 G A rs767850286 MAP3K5 Nonsynonymous SNV A422V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 326605 chr6 144843240 144843240 C T rs144099534 UTRN Nonsynonymous SNV S1889L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 326606 chr3 164908357 164908357 A T rs141024208 SLITRK3 Nonsynonymous SNV S88T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.45 326607 chr9 37442190 37442190 G A rs759066956 ZBTB5 Nonsynonymous SNV T120M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 326608 chr3 172163144 172163144 T C GHSR Nonsynonymous SNV Y303C 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 326609 chr6 150022938 150022938 A C LATS1 Nonsynonymous SNV L109V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 326610 chr9 75431068 75431068 A G rs148971770 TMC1 Nonsynonymous SNV T569A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.14 326611 chr4 6865325 6865325 G A rs769161490 KIAA0232 Synonymous SNV P1072P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.431 326612 chr6 155451332 155451332 G A rs76377531 TIAM2 Synonymous SNV T325T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.624 326613 chr6 157100024 157100032 GGAGGAGGA - rs772429143 ARID1B G326_G328del 0.001 0 0 0 1 0 0 0 0 0 0 0 326614 chr9 85677628 85677628 T G RASEF Nonsynonymous SNV Q52P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.52 326615 chr3 151156305 151156305 A G rs762858801 IGSF10 Nonsynonymous SNV L42S 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 326616 chr3 189038590 189038590 G A rs200541402 TPRG1 Nonsynonymous SNV R270H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326617 chr9 99086398 99086398 G A rs145290742 SLC35D2 Nonsynonymous SNV T181M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 326618 chr17 26107880 26107880 G A NOS2 Nonsynonymous SNV P306L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 326619 chr6 168376953 168376953 - CCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTC rs751060586 HGC6.3 G126_V127insGMTPTASSSQHTAG 0.001 0 0 0 1 0 0 0 0 0 0 0 326620 chrX 107978648 107978648 C T IRS4 Nonsynonymous SNV M309I 0 0 0.007 0 0 0 0 2 0 0 1 0 27.7 326621 chr3 169646266 169646266 T C rs75972343 SAMD7 Nonsynonymous SNV I314T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 326622 chrX 130192382 130192382 C T ARHGAP36 Nonsynonymous SNV L8F 0 0 0.007 0 0 0 0 2 0 0 1 0 22.1 326623 chrX 138897058 138897058 T C rs138300688 ATP11C Synonymous SNV R138R 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign 3.212 326624 chr3 183957553 183957553 T G rs767832896 VWA5B2 Synonymous SNV P605P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 326625 chr4 57796957 57796957 C T rs138773727 REST Nonsynonymous SNV R645W 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 20.6 326626 chr4 57976194 57976194 G A rs368818343 IGFBP7 Synonymous SNV S108S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.37 326627 chr4 62936499 62936499 A G rs905625182 ADGRL3 Nonsynonymous SNV H1401R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.98 326628 chr4 68456635 68456635 C T rs202213204 STAP1 Synonymous SNV S231S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 326629 chrX 55287063 55287063 G A PAGE3 Synonymous SNV L75L 0 0 0.007 0 0 0 0 2 0 0 1 0 0.15 326630 chrX 67937185 67937185 C T rs137983170 STARD8 Synonymous SNV T63T 0 0 0.007 0 0 0 0 2 0 0 1 0 5.963 326631 chr3 195484169 195484169 G A rs373899045 MUC4 Nonsynonymous SNV S719L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.06 326632 chr3 197444865 197444865 C T rs762045180 RUBCN Nonsynonymous SNV G8R 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326633 chr4 88416147 88416147 C A SPARCL1 Nonsynonymous SNV D63Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.04 326634 chr4 962191 962191 G T rs1002377013 DGKQ Nonsynonymous SNV T181N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.624 326635 chr17 39728144 39728144 C T rs146238717 KRT9 Nonsynonymous SNV R34H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.881 326636 chr17 41243725 41243725 T C rs80357280 BRCA1 Nonsynonymous SNV I1228V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.001 326637 chr7 44283040 44283040 G A rs139418309 CAMK2B Synonymous SNV D167D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.139 326638 chr17 42854584 42854584 C T rs748058484 ADAM11 Nonsynonymous SNV R378C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326639 chr4 113350379 113350379 C T rs199772759 ALPK1 Synonymous SNV A212A 0 0 0 1 0 0 0.003 0 0 0 0 0 19.04 326640 chr4 6865058 6865058 T C rs73796360 KIAA0232 Synonymous SNV A983A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.033 326641 chr4 144617369 144617369 G A rs892643901 FREM3 Nonsynonymous SNV T1487I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.5 326642 chr4 82369314 82369314 A G RASGEF1B Nonsynonymous SNV L146P 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 326643 chr4 169312727 169312727 T C DDX60L Synonymous SNV Q1293Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.951 326644 chr4 41747990 41748004 GCTGCCGCCGCTGCC - rs761018157 PHOX2B A256_A260del 0.001 0 0 0 1 0 0 0 0 0 0 0 326645 chr14 105181049 105181049 G A rs374684004 INF2 Nonsynonymous SNV A1184T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.2 326646 chr17 57917248 57917248 G A rs373537296 VMP1 Synonymous SNV L265L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.951 326647 chr17 60033074 60033074 T C rs778174072 MED13 Nonsynonymous SNV M1917V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 326648 chr4 183601775 183601775 C T rs560498873 TENM3 Synonymous SNV T573T 0 0 0 1 0 0 0.003 0 0 0 0 0 15.57 326649 chr4 183635372 183635372 A G rs777418367 TENM3 Nonsynonymous SNV K785R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 326650 chr4 55144678 55144678 C T rs375434317 PDGFRA Nonsynonymous SNV R718W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 326651 chr4 57385011 57385011 A G rs369859560 ARL9 Nonsynonymous SNV N204D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 326652 chr4 186427792 186427792 G A rs747243505 PDLIM3 Nonsynonymous SNV S59L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22 326653 chr4 104035667 104035667 A C CENPE Synonymous SNV V2374V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 326654 chr17 649946 649946 G A rs986081682 GEMIN4 Nonsynonymous SNV A446V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.83 326655 chr10 45429196 45429196 G A rs542230870 TMEM72 Synonymous SNV P107P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.695 326656 chr10 45430380 45430380 G T rs561900900 TMEM72 Nonsynonymous SNV S91I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.383 326657 chr17 6981418 6981418 G A rs199974072 CLEC10A Stop gain Q28X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326658 chr4 74353501 74353501 G A AFM Nonsynonymous SNV A226T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 326659 chr10 48390151 48390151 C T rs149256669 RBP3 Nonsynonymous SNV A243T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.9 326660 chr14 23624415 23624415 G T rs988203631 SLC7A8 Synonymous SNV T51T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 326661 chr14 23828143 23828143 G A rs201333215 EFS Nonsynonymous SNV P305L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 326662 chr10 50669416 50669416 C A rs4253219 ERCC6 Nonsynonymous SNV G1322V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.9 326663 chr4 84200188 84200188 C A rs746163184 COQ2 Nonsynonymous SNV M111I 0.001 0 0 0 1 0 0 0 0 0 0 0 23 326664 chr5 16477862 16477862 C T RETREG1 Synonymous SNV V162V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.41 326665 chr10 51592562 51592562 T C rs377224560 TIMM23 Nonsynonymous SNV Y191C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 326666 chr10 5790936 5790936 T C TASOR2 Nonsynonymous SNV L1770S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.395 326667 chr17 56620977 56620977 G A rs142057363 SEPTIN4 Nonsynonymous SNV R191C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326668 chr17 73237706 73237708 ATC - rs753414268 GGA3 D151del 0.001 0 0 0 1 0 0 0 0 0 0 0 326669 chr17 58145013 58145013 T C HEATR6 Nonsynonymous SNV I340M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.199 326670 chr10 65225795 65225795 G A JMJD1C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 326671 chr10 71055389 71055389 G T rs201626997 HK1 Nonsynonymous SNV A10S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 326672 chr14 55241764 55241764 C T rs762945118 SAMD4A Nonsynonymous SNV R201C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 326673 chr17 76887826 76887826 T C CEP295NL Nonsynonymous SNV N254D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 326674 chr10 88203107 88203107 G A rs142195659 WAPL Synonymous SNV A1106A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 326675 chr10 88704020 88704020 G A rs140040286 MMRN2 Synonymous SNV H218H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.285 326676 chr10 91486079 91486081 TAT - rs545101501 KIF20B I679del 0 0 0.003 0 0 0 0 1 0 0 0 0 326677 chr10 93619394 93619394 C T rs149086273 TNKS2 Synonymous SNV Y1090Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 326678 chr11 101362336 101362336 C T rs777715086 TRPC6 Nonsynonymous SNV R360H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 326679 chr18 21192114 21192114 T C rs145138147 ANKRD29 Nonsynonymous SNV N255S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.34 326680 chr11 102239087 102239089 AAT - rs374365048 BIRC2 N392del 0 0 0.003 0 0 0 0 1 0 0 0 0 326681 chr8 2820115 2820115 A G rs368968438 CSMD1 Synonymous SNV S3167S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.839 326682 chr11 10585562 10585562 T C rs781115974 LYVE1 Nonsynonymous SNV K108E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 326683 chr18 28993526 28993526 C T rs147705128 DSG4 Stop gain R1050X 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 42 326684 chr18 29867985 29867985 T C rs761044732 GAREM1 Nonsynonymous SNV K192R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 326685 chr4 187541875 187541875 G A rs769348689 FAT1 Synonymous SNV S1955S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.959 326686 chr18 32455297 32455297 C T rs145425478 DTNA Nonsynonymous SNV P276L 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 34 326687 chr11 118242302 118242302 A G rs1024624606 UBE4A Nonsynonymous SNV N161S 0 0 0.007 0 0 0 0 2 0 0 1 0 25.5 326688 chr17 79899320 79899320 C T rs531744096 MYADML2 Nonsynonymous SNV A100T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 326689 chr18 52586579 52586579 T C CCDC68 Nonsynonymous SNV I238V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 326690 chr5 14609091 14609091 C T rs138585294 OTULINL Synonymous SNV L288L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.22 326691 chr5 140579920 140579920 C T rs145237644 PCDHB11 Synonymous SNV Y191Y 0 0 0 1 0 0 0.003 0 0 0 0 0 11.54 326692 chr11 124508623 124508623 G C rs200445560 SIAE Nonsynonymous SNV R379G 0 0 0.007 0 0 0 0 2 0 0 1 0 Likely benign 29.4 326693 chr5 79032193 79032193 G A rs780875875 CMYA5 Synonymous SNV K2535K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.498 326694 chr5 43453898 43453898 A T rs747932144 TMEM267 Stop gain C58X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 326695 chr5 44809563 44809565 GAG - rs781533791 MRPS30 E168del 0.001 0 0 0 1 0 0 0 0 0 0 0 326696 chr5 149213218 149213218 G A rs114581116 PPARGC1B Nonsynonymous SNV E489K 0 0 0 1 0 0 0.003 0 0 0 0 0 11.03 326697 chr5 149404193 149404193 C T rs61743767 HMGXB3 Synonymous SNV S304S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 8.899 326698 chr5 149456995 149456995 C A rs41338945 CSF1R Nonsynonymous SNV A245S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.002 326699 chr5 149459790 149459790 C T rs61753457 CSF1R Synonymous SNV S139S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.26 326700 chr5 150029746 150029746 G A rs76004302 SYNPO Nonsynonymous SNV V637M 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 17.55 326701 chr8 30541641 30541641 C T rs570116243 GSR Nonsynonymous SNV V291I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 326702 chr5 150722450 150722450 T C rs765921117 SLC36A2 Nonsynonymous SNV R147G 0.001 0 0 1 1 0 0.003 0 0 0 0 0 26.8 326703 chr8 41790510 41790510 C A KAT6A Nonsynonymous SNV S1743I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 326704 chr5 66432449 66432449 T G MAST4 Nonsynonymous SNV I623M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 326705 chr5 154396833 154396833 C T rs760859251 KIF4B Synonymous SNV S1138S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.35 326706 chr8 57228803 57228803 C T rs772872361 SDR16C5 Nonsynonymous SNV R35Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 326707 chr19 46185081 46185081 C A GIPR Nonsynonymous SNV A394D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.797 326708 chr5 172097233 172097233 C T rs61746614 NEURL1B Synonymous SNV N159N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.79 326709 chr19 13318678 13318678 - CTG CACNA1A Q2325_A2326insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 326710 chr19 47980108 47980108 A G rs746903629 KPTN Synonymous SNV D261D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.196 326711 chr8 107752702 107752702 G C rs142390505 OXR1 Synonymous SNV V108V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 326712 chr8 116616651 116616651 C A rs576033105 TRPS1 Synonymous SNV S506S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.324 326713 chr11 46341881 46341881 T G rs544539212 CREB3L1 Nonsynonymous SNV L442R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 25.3 326714 chr11 46700937 46700937 A G rs947849528 ARHGAP1 Nonsynonymous SNV F370S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 326715 chr19 1482462 1482462 C T rs760175008 PCSK4 Nonsynonymous SNV R570H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 326716 chr11 47312287 47312287 G A rs752053057 MADD Nonsynonymous SNV R1031Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 326717 chr5 179264472 179264472 C T MRNIP Synonymous SNV L262L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.564 326718 chr8 121290699 121290699 T A COL14A1 Nonsynonymous SNV D1121E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.867 326719 chr5 108714834 108714834 G A rs373783199 PJA2 Synonymous SNV S118S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.739 326720 chr5 125822647 125822647 A C GRAMD2B Nonsynonymous SNV I277L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.451 326721 chr6 10990059 10990059 C T rs566238323 ELOVL2 Synonymous SNV V214V 0 0 0 1 0 0 0.003 0 0 0 0 0 14.19 326722 chr6 12123783 12123783 A G rs143171464 HIVEP1 Nonsynonymous SNV H1252R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 326723 chr15 78566680 78566680 G A rs767948032 DNAJA4 Nonsynonymous SNV R187H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 326724 chr19 52130940 52130940 A G rs200372912 SIGLEC5 Nonsynonymous SNV C353R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 326725 chr8 144942097 144942097 G A rs73375119 EPPK1 Synonymous SNV H1775H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.2 326726 chr5 138730647 138730647 C T rs746602315 PROB1 Nonsynonymous SNV E42K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 326727 chr8 144997786 144997786 G A rs201959200 PLEC Nonsynonymous SNV A2090V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.16 326728 chr8 145057771 145057771 C T rs143193376 PARP10 Synonymous SNV R674R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 326729 chr8 145095487 145095487 C T rs145229001 SPATC1 Nonsynonymous SNV P262L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.15 326730 chr19 12880803 12880803 C A HOOK2 Synonymous SNV R332R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.56 326731 chr6 35260683 35260683 G A rs143469179 ZNF76 Synonymous SNV P397P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.76 326732 chr19 53667754 53667754 A G rs751198505 ZNF665 Synonymous SNV F663F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.095 326733 chr19 21131671 21131671 C T rs199813082 ZNF85 Synonymous SNV G53G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.683 326734 chr15 90320360 90320360 C T rs765025021 MESP2 Nonsynonymous SNV P258S 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.65 326735 chr8 145740752 145740752 C T rs200941778 RECQL4 Nonsynonymous SNV V450M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.954 326736 chr19 23545201 23545201 G A rs377229432 ZNF91 Nonsynonymous SNV R162C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 326737 chr19 24116000 24116000 T A rs772189621 ZNF726 Nonsynonymous SNV I361K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.159 326738 chr19 287482 287482 G A rs78166417 PLPP2 Synonymous SNV T158T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.184 326739 chr15 95013651 95013651 G A rs146539078 MCTP2 Nonsynonymous SNV R762Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 326740 chr19 290990 290990 G C rs183614327 PLPP2 Nonsynonymous SNV P26R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.27 326741 chr5 150503891 150503891 G C ANXA6 Nonsynonymous SNV P333R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 326742 chr19 34900194 34900194 C T rs757698655 PDCD2L Synonymous SNV D153D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 326743 chr9 19336786 19336786 G C DENND4C Nonsynonymous SNV R946T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 326744 chr9 19372040 19372040 T C rs145227325 DENND4C Nonsynonymous SNV F1867L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 326745 chr19 16861175 16861175 C T rs746626487 NWD1 Synonymous SNV H368H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.19 326746 chr6 44271159 44271159 G T rs750272927 AARS2 Nonsynonymous SNV T670N 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 326747 chr19 17343353 17343353 C T rs369918989 NR2F6 Synonymous SNV A341A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 326748 chr6 46656082 46656082 T C rs187914929 TDRD6 Nonsynonymous SNV C73R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 326749 chr11 57511976 57511976 C A BTBD18 Nonsynonymous SNV R590L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 326750 chr11 57513064 57513064 A G BTBD18 Synonymous SNV H227H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 326751 chr6 46656952 46656952 C T rs974236518 TDRD6 Synonymous SNV L363L 0 0 0 1 0 0 0.003 0 0 0 0 0 3.173 326752 chr19 36104780 36104780 A G HAUS5 Nonsynonymous SNV K58E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 326753 chr19 56372845 56372845 C T rs377367398 NLRP4 Synonymous SNV L650L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.334 326754 chr19 36303679 36303679 G A PRODH2 Nonsynonymous SNV S86F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 326755 chr9 74061722 74061722 T C TRPM3 Synonymous SNV E10E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.606 326756 chr16 2052408 2052408 G A rs370513263 ZNF598 Nonsynonymous SNV R232C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 326757 chr19 18375978 18375978 A C IQCN Nonsynonymous SNV L791R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 326758 chr11 6023744 6023744 A T rs373579084 OR56A4 Nonsynonymous SNV L160H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 326759 chr11 60620796 60620796 C T rs180805093 PTGDR2 Nonsynonymous SNV V134M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 326760 chr11 60785339 60785339 C T rs143534135 CD6 Nonsynonymous SNV S532L 0 0 0.003 0 0 0 0 1 0 0 0 0 29 326761 chr11 61026565 61026565 G A rs199774187 VWCE Nonsynonymous SNV P817L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 326762 chr16 22260086 22260086 G A rs760638533 EEF2K Nonsynonymous SNV V120I 0.001 0 0 0 1 0 0 0 0 0 0 0 11 326763 chr11 61672077 61672077 C T rs757395342 RAB3IL1 Synonymous SNV P254P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 326764 chr11 62287797 62287797 C T rs574303217 AHNAK Nonsynonymous SNV E4698K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 326765 chr19 39979208 39979208 C T TIMM50 Stop gain R182X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 326766 chr16 28489097 28489097 G A rs145340637 CLN3 Synonymous SNV G286G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.24 326767 chr19 2247989 2247989 T C SF3A2 Nonsynonymous SNV L280P 0.001 0 0 0 1 0 0 0 0 0 0 0 16 326768 chr19 40900450 40900450 C T rs775221457 PRX Nonsynonymous SNV R1270H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 20.4 326769 chr6 90323521 90323521 C A rs575602422 ANKRD6 Nonsynonymous SNV T143N 0 0 0 1 0 0 0.003 0 0 0 0 0 30 326770 chr16 30675718 30675718 G A rs868451607 FBRS Nonsynonymous SNV R413Q 0.001 0 0 0 1 0 0 0 0 0 0 0 2.658 326771 chr11 65144012 65144012 A G rs775077962 SLC25A45 Nonsynonymous SNV C221R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 326772 chr19 4262037 4262037 G A rs752613559 YJU2 Nonsynonymous SNV D212N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 326773 chr6 42946345 42946345 C T PEX6 Nonsynonymous SNV V182M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.5 326774 chr11 65361206 65361206 G A rs1050283328 KCNK7 Synonymous SNV A153A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.255 326775 chr6 110112663 110112663 C T rs370849021 FIG4 Synonymous SNV S755S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.48 326776 chr11 65620169 65620169 G A rs372344292 SNX32 Synonymous SNV A327A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.561 326777 chr11 65664476 65664476 T C rs757312993 FOSL1 Nonsynonymous SNV K34R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 326778 chr11 66114720 66114720 C T rs772838995 B4GAT1 Synonymous SNV T99T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.14 326779 chr11 66360406 66360406 A T rs772721340 CCDC87 Synonymous SNV T27T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 326780 chr11 66743011 66743011 A G rs546288539 C11orf86 Nonsynonymous SNV T60A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 326781 chr16 53190935 53190935 T A rs890921265 CHD9 Nonsynonymous SNV S312T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.268 326782 chr6 26459830 26459830 G T BTN2A1 Synonymous SNV R7R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.12 326783 chr16 56504645 56504645 C T rs143949400 OGFOD1 Synonymous SNV N371N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.372 326784 chr6 129513917 129513917 C T rs111381107 LAMA2 Synonymous SNV I567I 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Benign/Likely benign 13.35 326785 chr11 7081202 7081202 A G rs753514126 NLRP14 Nonsynonymous SNV H904R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 326786 chr16 57722358 57722358 C T rs147994431 ADGRG3 Synonymous SNV S425S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 326787 chr6 136883733 136883733 C T rs377276794 MAP3K5 Nonsynonymous SNV R1261Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.05 326788 chr11 77580855 77580855 G A rs760266528 AAMDC Nonsynonymous SNV A93T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 326789 chr16 69369208 69369208 C G COG8 Nonsynonymous SNV S210T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 326790 chr19 4703960 4703960 C T rs761600246 DPP9 Nonsynonymous SNV S236N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.23 326791 chr6 152553376 152553376 G A rs142593312 SYNE1 Nonsynonymous SNV R6842C 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 326792 chr19 48205142 48205142 C T rs756024264 BICRA Synonymous SNV L1385L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 326793 chr16 72993904 72993904 G A rs116519588 ZFHX3 Synonymous SNV H47H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.552 326794 chr6 154744115 154744115 A G rs753943552 CNKSR3 Synonymous SNV S69S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.14 326795 chr19 48956136 48956136 G A rs771580285 GRWD1 Nonsynonymous SNV G399R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.04 326796 chr6 53764649 53764649 C T rs201576116 LRRC1 Synonymous SNV V249V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 326797 chr11 9806829 9806829 A G rs776642521 SBF2 Nonsynonymous SNV S1692P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.79 326798 chr12 104237628 104237628 T C TTC41P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.162 326799 chr9 139658443 139658443 C T rs142939982 LCN15 Nonsynonymous SNV V39M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 326800 chr7 909000 909000 C T rs369315584 SUN1 Synonymous SNV P562P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.18 326801 chr12 10783767 10783767 G A rs149269676 STYK1 Nonsynonymous SNV R110W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 326802 chr1 12170155 12170155 C T TNFRSF8 Synonymous SNV S79S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.66 326803 chr7 1539562 1539562 G A rs756251106 INTS1 Synonymous SNV A214A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.77 326804 chr7 2583401 2583401 G A rs112960104 BRAT1 Nonsynonymous SNV A34V 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 8.523 326805 chr6 143082692 143082692 C T rs771432460 HIVEP2 Synonymous SNV T1843T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.15 326806 chr12 116972462 116972462 A G rs552115699 LINC00173 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 326807 chr7 21907533 21907533 T C rs538666182 DNAH11 Nonsynonymous SNV L3916S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 26.6 326808 chr16 9857547 9857547 C T rs367543132 GRIN2A Nonsynonymous SNV R1285K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.79 326809 chr19 54313476 54313476 C G NLRP12 Nonsynonymous SNV Q479H 0.001 0 0 0 1 0 0 0 0 0 0 0 23 326810 chr10 16824065 16824065 G A RSU1 Nonsynonymous SNV T43I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 326811 chr12 125453133 125453133 T C rs781633830 DHX37 Nonsynonymous SNV Y452C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 326812 chr1 155150994 155150994 A T TRIM46 Nonsynonymous SNV Q271L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 326813 chr7 33055350 33055350 C A NT5C3A Nonsynonymous SNV D243Y 0 0 0 1 0 0 0.003 0 0 0 0 0 33 326814 chr12 132400601 132400601 C T rs200671244 ULK1 Nonsynonymous SNV P592L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.45 326815 chr6 143074362 143074362 G A rs375974004 HIVEP2 Nonsynonymous SNV T2408M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 326816 chr19 55598203 55598203 C A EPS8L1 Synonymous SNV G506G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 326817 chr1 156639337 156639337 T C NES Nonsynonymous SNV H1548R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.301 326818 chr6 170871046 170871046 - CAGCAGCAGCAGCAGCAG TBP Q75_A76insQQQQQQ 0 0 0 1 0 0 0.003 0 0 0 0 0 326819 chr12 21033898 21033901 TACC - SLCO1B3, SLCO1B3-SLCO1B7 Y453Cfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 326820 chr17 18047042 18047042 G A rs117071200 MYO15A Nonsynonymous SNV R1993Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 27.7 326821 chr12 21954083 21954083 C T ABCC9 Synonymous SNV L1515L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 326822 chr7 45930256 45930256 C A rs9658209 IGFBP1 Nonsynonymous SNV D153E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.958 326823 chr19 56052526 56052526 C T rs781773288 SBK3 Nonsynonymous SNV A256T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 326824 chr7 47906041 47906041 T A rs774772164 PKD1L1 Synonymous SNV V1356V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.393 326825 chr12 2964283 2964283 G T rs540502018 TEX52 Synonymous SNV P134P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.584 326826 chr7 50799979 50799979 G C GRB10 Nonsynonymous SNV P14R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.7 326827 chr7 55240780 55240780 G A rs150423237 EGFR Nonsynonymous SNV R408Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 35 326828 chr10 50736550 50736550 T C rs138822457 ERCC6 Nonsynonymous SNV T189A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.73 326829 chr6 160978539 160978539 C A rs201217994 LPA Nonsynonymous SNV D1566Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 326830 chr10 61083804 61083804 A G rs779070675 FAM13C Synonymous SNV H129H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.163 326831 chr7 75614105 75614105 C T rs782716205 POR Synonymous SNV N359N 0 0.003 0 1 0 1 0.003 0 0 0 0 0 9.688 326832 chr17 27946161 27946161 G A rs571291653 CORO6 Nonsynonymous SNV P123L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 326833 chr10 68280481 68280481 G C CTNNA3 Synonymous SNV V475V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.678 326834 chr6 168376918 168376918 - GT rs142930955 HGC6.3 Frameshift insertion C139Tfs*52 0.001 0 0 0 1 0 0 0 0 0 0 0 326835 chr6 168376929 168376929 - GGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGG HGC6.3 Frameshift insertion F135Sfs*69 0.001 0 0 0 1 0 0 0 0 0 0 0 326836 chr19 58966760 58966760 G C rs151099423 ZNF324B Nonsynonymous SNV G150A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.19 326837 chr10 70940128 70940128 C A SUPV3L1 Synonymous SNV A27A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 326838 chr10 71883775 71883775 G A rs762846277 AIFM2 Synonymous SNV G22G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.32 326839 chr7 92940552 92940552 C T VPS50 Nonsynonymous SNV T608I 0 0 0 1 0 0 0.003 0 0 0 0 0 31 326840 chr17 34249649 34249649 G A rs373304914 RDM1 Nonsynonymous SNV T177I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 326841 chr12 53188059 53188059 C G KRT3 Nonsynonymous SNV Q234H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 326842 chr10 75551724 75551724 G A ZSWIM8 Nonsynonymous SNV R476Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 326843 chr17 3560090 3560090 G A rs749317721 CTNS 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 24.1 326844 chr10 75860833 75860833 C T rs794729187 VCL Nonsynonymous SNV T667M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.8 326845 chr7 100201678 100201678 T G rs924967319 PCOLCE Nonsynonymous SNV S101A 0 0.003 0 1 0 1 0.003 0 0 0 0 0 1.087 326846 chr10 87373175 87373175 T C GRID1 Nonsynonymous SNV T864A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 326847 chr12 56077816 56077816 G A rs149410935 METTL7B Nonsynonymous SNV G240R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 326848 chr17 3801781 3801781 C T P2RX1 Synonymous SNV G343G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 326849 chr17 38519579 38519579 G A GJD3 Synonymous SNV A163A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.62 326850 chr19 871107 871107 G A rs752460156 MED16 Nonsynonymous SNV R749C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 326851 chr10 93722312 93722312 A G rs146898371 BTAF1 Synonymous SNV L427L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.57 326852 chr10 96535295 96535295 G - rs757986182 CYP2C19 A161Lfs*17 0.001 0 0 0 1 0 0 0 0 0 0 0 326853 chr1 181767670 181767670 G A rs374903430 CACNA1E Synonymous SNV P2152P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.28 326854 chr12 6838431 6838431 T A COPS7A Nonsynonymous SNV L116M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 326855 chr10 103298114 103298114 C T BTRC Synonymous SNV L522L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.95 326856 chr10 105218000 105218000 A G CALHM1 Nonsynonymous SNV L170P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 326857 chr12 85459071 85459071 G C rs138190235 LRRIQ1 Nonsynonymous SNV G808A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 326858 chr1 197091124 197091124 C T rs150125249 ASPM Nonsynonymous SNV R1264H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 326859 chr12 91366646 91366646 C T rs577030828 EPYC Nonsynonymous SNV R151H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 326860 chr19 8808196 8808196 G A rs373541326 ACTL9 Nonsynonymous SNV R286C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.66 326861 chr1 10473238 10473238 G A rs61736950 PGD Synonymous SNV A236A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 326862 chr1 201178036 201178036 A G rs962539208 IGFN1 Nonsynonymous SNV K1339E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.09 326863 chr12 9994550 9994550 G C rs746667780 KLRF1 Nonsynonymous SNV M109I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 326864 chr13 102105193 102105193 C G rs757872318 ITGBL1 Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.384 326865 chr1 110883284 110883284 C G rs780857246 RBM15 Synonymous SNV L419L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.859 326866 chr17 4675240 4675240 G T rs201238612 TM4SF5 Nonsynonymous SNV R8L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 326867 chr13 113699195 113699195 G A rs533677749 MCF2L Nonsynonymous SNV G53S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.126 326868 chr13 113980129 113980129 G A rs140982448 GRTP1 Synonymous SNV N256N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.221 326869 chr1 113658997 113658997 G T LRIG2 Nonsynonymous SNV E873D 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 326870 chr7 141408803 141408803 G A WEE2 Nonsynonymous SNV R82K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.013 326871 chr17 4858387 4858387 C T rs902764196 ENO3 Synonymous SNV N111N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.54 326872 chr17 4937534 4937534 C T rs773631155 SLC52A1 Nonsynonymous SNV V84I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 326873 chr1 117699280 117699280 G A rs749723116 VTCN1 Stop gain Q26X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 326874 chr7 143096889 143096889 G A rs764264042 EPHA1 Synonymous SNV T230T 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.755 326875 chr1 215931996 215931996 G T USH2A Nonsynonymous SNV P3777H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 326876 chr10 134999829 134999829 G A rs368066503 KNDC1 Nonsynonymous SNV R326H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.97 326877 chr1 1225728 1225728 G A rs202232052 SCNN1D Synonymous SNV A580A 0.001 0 0 0 1 0 0 0 0 0 0 0 6.767 326878 chr10 135003164 135003164 C T rs767226615 KNDC1 Nonsynonymous SNV P502S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 326879 chr13 32868666 32868666 C T FRY Synonymous SNV N2914N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.66 326880 chr10 135044134 135044134 C T rs778470716 UTF1 Synonymous SNV C114C 0.001 0 0 0 1 0 0 0 0 0 0 0 11.04 326881 chr7 94055784 94055784 C A rs377278762 COL1A2 Nonsynonymous SNV P1016H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 21.7 326882 chr1 220088979 220088979 G A rs375331656 SLC30A10 Nonsynonymous SNV H424Y 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 326883 chr11 314278 314278 T C rs142221858 IFITM1 Synonymous SNV H36H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.182 326884 chr7 158560409 158560409 T C rs768708442 ESYT2 Nonsynonymous SNV N287S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.7 326885 chr7 158695223 158695223 G A rs772132029 WDR60 Nonsynonymous SNV E241K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 326886 chr13 77529555 77529555 T C ACOD1 Synonymous SNV S122S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.952 326887 chr14 100376593 100376593 A G rs565204879 EML1 Synonymous SNV P418P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.847 326888 chr8 8197057 8197057 C T rs371626390 PRAG1 Nonsynonymous SNV V751I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 326889 chr14 102198187 102198187 C T rs368498394 LINC00239 0 0 0.003 0 0 0 0 1 0 0 0 0 9.057 326890 chr8 10466043 10466043 C T rs777589526 RP1L1 Synonymous SNV E1855E 0 0 0 1 0 0 0.003 0 0 0 0 0 10.75 326891 chr14 105173653 105173653 C T rs146529868 INF2 Nonsynonymous SNV P350L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.2 326892 chr1 156567862 156567862 G A rs757237217 GPATCH4 Nonsynonymous SNV P105S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.893 326893 chr1 156838327 156838327 A G NTRK1 Nonsynonymous SNV N202S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.723 326894 chr14 105420945 105420945 C G rs376708808 AHNAK2 Synonymous SNV S181S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.12 326895 chr14 20344921 20344921 G A rs567483423 OR4K2 Synonymous SNV T165T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.236 326896 chr1 240072504 240072504 G A rs189146647 CHRM3 Nonsynonymous SNV A585T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 326897 chr17 76420080 76420080 G A rs117340568 DNAH17 Synonymous SNV R4432R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 326898 chr8 25898178 25898178 G A rs1043457048 EBF2 Nonsynonymous SNV T121M 0 0 0 1 0 0 0.003 0 0 0 0 0 34 326899 chr14 24649092 24649092 G A rs758434563 REC8 Nonsynonymous SNV R512Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 326900 chr8 41355100 41355100 G A rs779089607 GOLGA7 Nonsynonymous SNV G62S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 326901 chr1 17285115 17285115 G A rs374758748 CROCC Nonsynonymous SNV R1301Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 326902 chr17 80014796 80014796 C T rs142208939 GPS1 Synonymous SNV R445R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.27 326903 chr8 69104701 69104701 G A rs116570374 PREX2 Synonymous SNV S1515S 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 17.23 326904 chr8 71075079 71075079 C T rs544210212 NCOA2 Synonymous SNV T127T 0 0 0 1 0 0 0.003 0 0 0 0 0 18 326905 chr8 75929661 75929661 A G rs189810794 CRISPLD1 Nonsynonymous SNV N182S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.186 326906 chr17 915120 915120 C T rs141700207 ABR Synonymous SNV T140T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.6 326907 chr14 52735048 52735048 G A rs200739863 PTGDR Synonymous SNV G172G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.787 326908 chr8 99102040 99102040 T C rs373715169 ERICH5 Synonymous SNV N265N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.102 326909 chr14 59950967 59950967 A C rs752608026 L3HYPDH Nonsynonymous SNV V23G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 326910 chr14 60441334 60441339 TAAGTA - rs768611009 LRRC9 I518_S519del 0 0 0.003 0 0 0 0 1 0 0 0 0 326911 chr11 6912880 6912880 A G OR2D2 Synonymous SNV N284N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.347 326912 chr1 185278137 185278137 A G rs148081227 IVNS1ABP Synonymous SNV A93A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 326913 chr18 28649082 28649082 G A rs549251334 DSC2 Synonymous SNV G762G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.381 326914 chr1 18703298 18703298 A G rs201533400 IGSF21 Nonsynonymous SNV E369G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 326915 chr1 19202875 19202875 G A rs370707645 ALDH4A1 Synonymous SNV S364S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.4 326916 chr14 70263591 70263591 C T rs201764278 SLC10A1 Synonymous SNV L94L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.312 326917 chr1 19236861 19236861 G T rs371658394 IFFO2 Synonymous SNV R475R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.64 326918 chr1 19470582 19470582 G C rs759111886 UBR4 Nonsynonymous SNV P2691A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 326919 chr1 201180253 201180253 A G IGFN1 Nonsynonymous SNV K2078E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.073 326920 chr1 201182388 201182388 G - rs755634079 IGFN1 G2790Vfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 326921 chr14 90784367 90784367 T C rs755456266 NRDE2 Nonsynonymous SNV E52G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 326922 chr1 206224643 206224643 G A rs781878807 AVPR1B Nonsynonymous SNV R68H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 326923 chr15 100801713 100801713 G A rs138012161 ADAMTS17 Synonymous SNV P334P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.596 326924 chr8 144993609 144993609 G A rs371407635 PLEC Synonymous SNV H3446H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.081 326925 chr15 25963404 25963404 G A rs765365464 ATP10A Synonymous SNV H502H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.083 326926 chr1 212799082 212799082 C G rs748465241 FAM71A Nonsynonymous SNV A288G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.891 326927 chr9 334381 334381 G T DOCK8 Nonsynonymous SNV V360F 0 0 0 1 0 0 0.003 0 0 0 0 0 22 326928 chr8 38271151 38271151 G A rs17182463 FGFR1 Nonsynonymous SNV R733C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 34 326929 chr8 39606935 39606935 G A rs147069631 ADAM2 Nonsynonymous SNV A618V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 326930 chr1 70639322 70639322 G A LRRC40 Stop gain R350X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 326931 chr9 5463108 5463108 A G rs376339401 CD274 Synonymous SNV E109E 0 0 0 1 0 0 0.003 0 0 0 0 0 7.194 326932 chr8 42705987 42705987 G A rs771696160 RNF170 Nonsynonymous SNV R184C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.639 326933 chr9 8518428 8518428 G A PTPRD Synonymous SNV A311A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 326934 chr15 42276685 42276685 C T rs778619405 PLA2G4E Nonsynonymous SNV V779M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 326935 chr8 57218190 57218190 G T rs140822824 SDR16C5 Nonsynonymous SNV P224T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 326936 chr9 18826412 18826412 G A rs368126265 ADAMTSL1 Synonymous SNV A1355A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.09 326937 chr1 226176085 226176085 C A rs771492535 SDE2 Nonsynonymous SNV G216C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 326938 chr9 21077799 21077799 A G rs149697542 IFNB1 Nonsynonymous SNV Y24H 0 0 0 1 0 0 0.003 0 0 0 0 0 18.26 326939 chr1 227171880 227171881 GT - COQ8A S449Wfs*48 0.001 0 0 0 1 0 0 0 0 0 0 0 326940 chr8 72246356 72246356 A G EYA1 Nonsynonymous SNV S60P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 326941 chr9 32550895 32550895 C G rs982206631 TOPORS Synonymous SNV S25S 0 0.003 0 1 0 1 0.003 0 0 0 0 0 19.23 326942 chr15 52901052 52901052 C T FAM214A Nonsynonymous SNV V694I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 326943 chr11 55595152 55595152 C T rs144590289 OR5L2 Nonsynonymous SNV T153M 0.001 0 0 0 1 0 0 0 0 0 0 0 2.972 326944 chr15 55484938 55484938 C A rs368924119 RSL24D1 Nonsynonymous SNV A59S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 326945 chr15 56435038 56435038 C G rs192586138 RFX7 Synonymous SNV R16R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 326946 chr1 23280361 23280362 GC - rs765684882 LACTBL1 R305Pfs*16 0.001 0 0 0 1 0 0 0 0 0 0 0 326947 chr1 234561453 234561453 A C TARBP1 Nonsynonymous SNV F1137C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 326948 chr9 84205869 84205869 C T rs144048030 TLE1 Synonymous SNV A570A 0 0 0 1 0 0 0.003 0 0 0 0 0 18.43 326949 chr9 86322547 86322547 G T UBQLN1 Nonsynonymous SNV S16R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.77 326950 chr15 72558248 72558248 C T rs374375152 PARP6 Nonsynonymous SNV V56I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 326951 chr15 75660919 75660919 C G MAN2C1 Synonymous SNV A2A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 326952 chr8 136659295 136659295 G A rs138429826 KHDRBS3 Nonsynonymous SNV V337I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 326953 chr1 2461018 2461026 TGGCGGGCG - HES5 A128_K131delinsE 0.001 0 0 0 1 0 0 0 0 0 0 0 326954 chr19 18391675 18391683 GCGCCCCCG - rs540821014 JUND G165_A167del 0.001 0 0 0 1 0 0 0 0 0 0 0 326955 chr15 90771634 90771634 C T rs371213054 SEMA4B Nonsynonymous SNV P620L 0 0 0.003 0 0 0 0 1 0 0 0 0 25 326956 chr1 249211188 249211188 A C rs757638511 PGBD2 Nonsynonymous SNV K135N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.032 326957 chr15 93563441 93563441 G A rs781108294 CHD2 Synonymous SNV Q1702Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.31 326958 chr16 10997703 10997703 C A rs754504346 CIITA Nonsynonymous SNV D247E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 326959 chr16 1129504 1129504 G A rs35798577 SSTR5 Synonymous SNV A212A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.164 326960 chr16 11369709 11369709 G A rs545828790 PRM2 Nonsynonymous SNV P134L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.136 326961 chr11 64676502 64676502 C T rs147209647 ATG2A Synonymous SNV S775S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.72 326962 chr11 64697985 64697985 C T rs147891521 PPP2R5B Nonsynonymous SNV T272M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 326963 chr11 65309175 65309175 G A rs370306373 LTBP3 Nonsynonymous SNV P874L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 326964 chr16 1537824 1537824 C G rs746979782 PTX4 Nonsynonymous SNV V92L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.373 326965 chr11 65385769 65385769 C T rs370838995 PCNX3 Synonymous SNV S312S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.632 326966 chr11 65793038 65793038 A G rs371489713 CATSPER1 Synonymous SNV D271D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.053 326967 chr19 36157722 36157722 C G rs772868690 UPK1A Nonsynonymous SNV S3C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.38 326968 chr19 36222953 36222953 C T rs753685124 KMT2B Nonsynonymous SNV S1861L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 326969 chr9 5988441 5988441 G A rs185424483 KIAA2026 Nonsynonymous SNV P233L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 326970 chr9 130570969 130570969 C T rs376937555 FPGS Nonsynonymous SNV R293W 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 326971 chr1 36898185 36898185 A T rs771698761 OSCP1 Stop gain Y91X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 326972 chr1 3786267 3786267 T C rs771108167 DFFB Synonymous SNV N227N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.93 326973 chr1 39321445 39321445 C T rs769992874 RRAGC Synonymous SNV Q158Q 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 326974 chr9 132483029 132483029 C G rs140111310 PRRX2 Nonsynonymous SNV S201C 0 0 0 1 0 0 0.003 0 0 0 0 0 28.6 326975 chr16 2283523 2283523 G A rs145769654 E4F1 Nonsynonymous SNV V381I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 326976 chr16 24166176 24166176 A T rs369508594 PRKCB Nonsynonymous SNV M413L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 326977 chr16 24268273 24268273 C T rs145675691 CACNG3 Synonymous SNV T66T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.276 326978 chr16 24802902 24802904 AAG - rs549025197 TNRC6A E983del 0 0 0.003 0 0 0 0 1 0 0 0 0 326979 chr11 73105679 73105679 A C rs778972775 RELT Nonsynonymous SNV T316P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 326980 chr16 2815563 2815563 C G rs755280199 SRRM2 Synonymous SNV P1678P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.058 326981 chr9 35906595 35906595 - CCACCACCACCACCACCACCACCACCACCC HRCT1 H105_P106insHHHHHHHHPH 0.001 0 0 0 1 0 0 0 0 0 0 0 326982 chr11 74700200 74700200 G A rs999133840 NEU3 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 326983 chr16 2983907 2983907 G A rs562626087 FLYWCH1 Synonymous SNV P480P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.901 326984 chr16 30409334 30409334 C T rs151015625 ZNF48 Nonsynonymous SNV R132W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 326985 chr16 30735764 30735764 G A rs202139170 SRCAP Synonymous SNV P1673P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.402 326986 chr11 88029328 88029328 C T CTSC Nonsynonymous SNV V288I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.31 326987 chr1 47685464 47685464 G C rs747792912 TAL1 Synonymous SNV P149P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.164 326988 chr16 4519567 4519567 A G rs373323873 NMRAL1 Nonsynonymous SNV W10R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.378 326989 chr11 82936046 82936046 C A rs145605968 ANKRD42 Nonsynonymous SNV Q246K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.66 326990 chr11 85396131 85396131 G T rs755629487 CCDC89 Nonsynonymous SNV S348Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.47 326991 chr1 53108597 53108597 C G rs200885042 SHISAL2A Nonsynonymous SNV A82G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 326992 chr11 86103688 86103688 C T rs372945413 CCDC81 Nonsynonymous SNV S135L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 326993 chr19 44085739 44085739 A G PINLYP Nonsynonymous SNV N34S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 326994 chr19 44116422 44116422 C T SRRM5 Nonsynonymous SNV A50V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 326995 chr9 140108743 140108743 G A rs769390143 NDOR1 Synonymous SNV Q166Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.127 326996 chr16 66880940 66880940 G A rs781369944 CA7 Synonymous SNV S16S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.03 326997 chr10 5496235 5496235 G A rs750324554 NET1 Nonsynonymous SNV R205H 0 0.003 0 1 0 1 0.003 0 0 0 0 0 22.6 326998 chr16 67265356 67265356 C A FHOD1 Nonsynonymous SNV G828C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 326999 chr16 67319313 67319313 C T rs544577020 PLEKHG4 Synonymous SNV R691R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 327000 chr16 67692831 67692831 C T rs571116752 ACD Synonymous SNV T215T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.52 327001 chr16 69776458 69776458 T G rs148297045 NOB1 Nonsynonymous SNV H339P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 327002 chr16 69905708 69905708 A T rs559742728 WWP2 Nonsynonymous SNV T77S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.414 327003 chr1 67724382 67724382 A C rs139858085 IL23R Nonsynonymous SNV Q487H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 327004 chr11 117308043 117308043 A G DSCAML1 Synonymous SNV N1505N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.426 327005 chr19 46273814 46273814 C A DMPK Nonsynonymous SNV L517F 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 327006 chr16 71603836 71603836 T C rs138304751 TAT Nonsynonymous SNV N349S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.544 327007 chr19 47424489 47424489 C T ARHGAP35 Nonsynonymous SNV H853Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 327008 chr10 21784518 21784518 G T MIR1915HG 0 0 0 1 0 0 0.003 0 0 0 0 0 7.887 327009 chr10 21845582 21845582 A T MLLT10 Nonsynonymous SNV N84I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.634 327010 chr16 81242161 81242161 G T PKD1L2 Nonsynonymous SNV T232N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 327011 chr1 64104430 64104430 C T rs145972303 PGM1 Nonsynonymous SNV A386V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 327012 chr16 81253918 81253918 C G rs370423482 PKD1L2 Nonsynonymous SNV V20L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.214 327013 chr16 83065799 83065799 G A rs368675786 CDH13 Synonymous SNV G114G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.805 327014 chr11 124620651 124620651 A T rs143897901 VSIG2 Nonsynonymous SNV F129Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 327015 chr1 916015 916015 G A PERM1 Nonsynonymous SNV A132V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.394 327016 chr9 140772442 140772442 G C CACNA1B Nonsynonymous SNV E19D 0 0 0 1 0 0 0.003 0 0 0 0 0 10.22 327017 chr16 84229828 84229828 G A rs369743783 ADAD2 Nonsynonymous SNV V460I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.943 327018 chr9 129870276 129870276 G A ANGPTL2 Synonymous SNV D245D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.692 327019 chr9 130422343 130422343 C T rs200802985 STXBP1 Nonsynonymous SNV P94L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 27.3 327020 chr1 93160938 93160938 A G rs763396717 EVI5 Nonsynonymous SNV F324L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 327021 chr9 130689603 130689603 G A rs913355676 PIP5KL1 Synonymous SNV H189H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 327022 chr16 85667674 85667674 C T rs376074064 GSE1 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 327023 chr19 50000558 50000558 T C RPS11 Synonymous SNV G41G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.778 327024 chr16 87723611 87723611 G A rs183515054 JPH3 Nonsynonymous SNV G549S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.349 327025 chr9 131671242 131671242 G T rs941064931 LRRC8A Nonsynonymous SNV R600L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 327026 chr19 50752282 50752282 C T rs554040475 MYH14 Synonymous SNV Y448Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.56 327027 chr12 402184 402184 T C KDM5A Nonsynonymous SNV K1536R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 327028 chr19 50905550 50905550 C T POLD1 Synonymous SNV L226L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.75 327029 chr12 4714132 4714132 C T DYRK4 Synonymous SNV G278G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 327030 chr16 89293933 89293933 C T rs765608720 ZNF778 Stop gain R385X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 327031 chr12 6442976 6442976 C T rs104895265 TNFRSF1A Synonymous SNV E83E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13 327032 chr10 25144246 25144246 C T rs773554795 PRTFDC1 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 327033 chr17 1412529 1412529 C T rs559367657 INPP5K Nonsynonymous SNV R166Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 327034 chr10 72972770 72972770 G T rs61757568 UNC5B Nonsynonymous SNV A10S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.17 327035 chr10 72972771 72972771 C T rs61757569 UNC5B Nonsynonymous SNV A10V 0 0 0 1 0 0 0.003 0 0 0 0 0 16 327036 chr17 18145291 18145291 C T rs753088713 LLGL1 Nonsynonymous SNV P954S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.979 327037 chr20 29993896 29993905 ACCTGGGGTG - rs766489590 DEFB121 T18Hfs*15 0.001 0 0 0 1 0 0 0 0 0 0 0 327038 chr12 10103812 10103812 C T rs138031783 CLEC12A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.274 327039 chr10 45423380 45423380 G A rs751205286 TMEM72 Nonsynonymous SNV V28M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 327040 chr10 75672839 75672839 G A rs149099771 PLAU Synonymous SNV G100G 0 0 0 1 0 0 0.003 0 0 0 0 0 15.64 327041 chr20 31996663 31996663 C T rs765356004 SNTA1 Synonymous SNV L423L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 327042 chr20 32216239 32216239 C A CBFA2T2 Nonsynonymous SNV H344N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 327043 chr10 85981965 85981965 C T LRIT2 Nonsynonymous SNV G455D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.033 327044 chr20 35128952 35128952 G A DLGAP4 Nonsynonymous SNV R110Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 327045 chr17 2605338 2605338 C T rs557522041 CLUH Synonymous SNV V163V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 327046 chr17 26943756 26943756 G C rs201896448 KIAA0100 Nonsynonymous SNV L1870V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 327047 chr10 93812062 93812062 C T rs182788610 CPEB3 Synonymous SNV A654A 0 0 0 1 0 0 0.003 0 0 0 0 0 9.943 327048 chr20 42196324 42196324 G A rs200530019 SGK2 Nonsynonymous SNV D96N 0.001 0 0 0 1 0 0 0 0 0 0 0 24 327049 chr17 32956106 32956106 G C rs8079978 TMEM132E Synonymous SNV R407R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.18 327050 chr17 3343501 3343501 T C SPATA22 Synonymous SNV A301A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.088 327051 chr17 34073405 34073405 A G rs372670402 GAS2L2 Nonsynonymous SNV S371P 0 0 0.007 0 0 0 0 2 0 0 1 0 10.41 327052 chr20 44641991 44641991 C T MMP9 Synonymous SNV H476H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.418 327053 chr22 43568482 43568482 T C rs1010415052 TTLL12 Nonsynonymous SNV I474V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 327054 chr10 102056746 102056746 C G PKD2L1 Synonymous SNV V345V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.93 327055 chr17 3659178 3659178 G A rs146562337 ITGAE Synonymous SNV D395D 0 0 0.007 0 0 0 0 2 0 0 1 0 5.891 327056 chr10 104836929 104836929 G A rs764133188 CNNM2 Nonsynonymous SNV A852T 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 327057 chr22 50537888 50537888 A G rs150821412 MOV10L1 Nonsynonymous SNV D100G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 327058 chr12 49959429 49959429 G A MCRS1 Synonymous SNV F70F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 327059 chr17 39622052 39622052 C G rs544903437 KRT32 Synonymous SNV L227L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 327060 chr22 51153374 51153374 G A rs541020999 SHANK3 Nonsynonymous SNV A783T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 327061 chr2 101706794 101706794 C A rs371278960 TBC1D8 Nonsynonymous SNV D54Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 327062 chr17 41053025 41053025 C T rs202190197 G6PC Synonymous SNV Y44Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.4 327063 chr17 41063437 41063437 G A rs776022311 G6PC Synonymous SNV S356S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.26 327064 chr17 42287033 42287033 T C UBTF Synonymous SNV G528G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.609 327065 chr17 423141 423141 C T rs377274469 VPS53 Synonymous SNV V751V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 327066 chr10 126672189 126672189 A G rs746993177 ZRANB1 Nonsynonymous SNV I614V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.613 327067 chr2 113535640 113535640 A T rs151111351 IL1A Nonsynonymous SNV I180N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 327068 chr2 115219712 115219712 C T DPP10 Synonymous SNV N16N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.615 327069 chr17 48918219 48918219 G A WFIKKN2 Nonsynonymous SNV E431K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 327070 chr12 57114983 57114983 T C NACA Nonsynonymous SNV I111V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.287 327071 chr10 135372839 135372839 C T rs35120947 SYCE1 Synonymous SNV E54E 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 15.03 327072 chr17 54925336 54925336 T A rs61751970 DGKE Synonymous SNV L266L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 327073 chr21 34925237 34925237 G C rs758774330 SON Nonsynonymous SNV A1234P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327074 chr17 56280605 56280605 G A rs144768455 EPX Synonymous SNV L624L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.88 327075 chr17 56692625 56692625 G A rs147681123 TEX14 Synonymous SNV A289A 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign 15.84 327076 chr21 39755583 39755583 C T rs374540718 ERG Synonymous SNV G302G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.09 327077 chr12 70284767 70284767 C T rs866132002 MYRFL Stop gain R242X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 327078 chr11 605711 605711 G A rs372144693 PHRF1 Nonsynonymous SNV V481M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 327079 chr11 612709 612709 G A IRF7 Nonsynonymous SNV S454F 0 0 0 1 0 0 0.003 0 0 0 0 0 26.1 327080 chr11 618994 618994 G A CDHR5 Nonsynonymous SNV P516L 0 0 0 1 0 0 0.003 0 0 0 0 0 18.83 327081 chr11 644571 644571 C G DEAF1 Synonymous SNV V484V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.883 327082 chr17 6328907 6328907 G A rs778794784 AIPL1 Nonsynonymous SNV P280L 0 0 0.007 0 0 0 0 2 0 0 1 0 20.3 327083 chr10 95134644 95134644 C T rs41296137 MYOF Nonsynonymous SNV R713Q 0.001 0 0 0 1 0 0 0 0 0 0 0 28 327084 chr10 96162391 96162391 C T rs751576751 TBC1D12 Synonymous SNV A7A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.17 327085 chr10 133918338 133918338 G A rs753848756 JAKMIP3 Nonsynonymous SNV R9Q 0 0 0 1 0 0 0.003 0 0 0 0 0 28.8 327086 chr21 45563243 45563243 C G rs144188289 GATD3A, GATD3B Synonymous SNV V195V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.497 327087 chr12 104089604 104089604 G A STAB2 Synonymous SNV E1188E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.657 327088 chr12 109018000 109018000 G A rs148764352 SELPLG Synonymous SNV A44A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.11 327089 chr10 101964917 101964917 C T rs778516460 CHUK Nonsynonymous SNV R424H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 327090 chr17 7319340 7319340 C T NLGN2 Synonymous SNV T516T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 327091 chr17 7340054 7340054 G A rs749535709 TMEM102 Synonymous SNV S252S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.491 327092 chr17 73518201 73518201 A T rs143604970 TSEN54 Stop gain K347X 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 38 327093 chr1 116932891 116932891 C T ATP1A1 Synonymous SNV N360N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.76 327094 chr10 105233444 105233444 G A rs775344472 CALHM3 Synonymous SNV V187V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.488 327095 chr11 3128641 3128641 G A rs200695317 OSBPL5 Nonsynonymous SNV S236L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 327096 chr17 79514028 79514028 C G rs74818865 FAAP100 Nonsynonymous SNV A694P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 327097 chr17 79771444 79771444 C T rs545914836 GCGR Nonsynonymous SNV S438L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.28 327098 chr17 79899216 79899216 G A rs576451483 MYADML2 Synonymous SNV F134F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.419 327099 chr17 80196681 80196681 - ATT rs770596608 SLC16A3 I410_R411insI 0 0 0.003 0 0 0 0 1 0 0 0 0 327100 chr22 29182240 29182240 C G rs762850742 CCDC117 Nonsynonymous SNV P238A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 327101 chr17 8273394 8273394 T G rs146376048 KRBA2 Synonymous SNV G97G 0 0 0.007 0 0 0 0 2 0 0 0 0 0.348 327102 chr12 132633424 132633424 C G rs779685565 NOC4L Synonymous SNV T295T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.662 327103 chr18 21747391 21747391 A T rs150020920 OSBPL1A Nonsynonymous SNV L300M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 327104 chr22 37769211 37769211 G A rs199734718 ELFN2 Synonymous SNV A788A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 327105 chr18 34174806 34174806 G A rs368828885 FHOD3 Synonymous SNV S221S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.32 327106 chr18 34359424 34359424 G C rs773947391 FHOD3 Synonymous SNV L1400L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.305 327107 chr22 32058143 32058143 G A PISD Nonsynonymous SNV P18S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 327108 chr11 6637982 6637982 G A rs200138397 TPP1 Nonsynonymous SNV R266W 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.3 327109 chr22 39024893 39024895 AGA - rs201151092 FAM227A S189del 0.001 0 0 0 1 0 0 0 0 0 0 0 327110 chr18 47566640 47566640 G C rs200086960 MYO5B Nonsynonymous SNV F61L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23.1 327111 chr11 8705593 8705593 T C RPL27A Synonymous SNV G36G 0 0 0 1 0 0 0.003 0 0 0 0 0 9.62 327112 chr22 42423022 42423022 C G WBP2NL Nonsynonymous SNV P256R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327113 chr22 43625096 43625096 C T rs1020232323 SCUBE1 Nonsynonymous SNV G356R 0.001 0 0 0 1 0 0 0 0 0 0 0 31 327114 chr22 46725339 46725339 G A rs762000503 GTSE1 Nonsynonymous SNV D671N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 327115 chr22 46773120 46773120 G A rs143291524 CELSR1 Synonymous SNV A2474A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.256 327116 chr11 17660092 17660092 C T rs555614943 OTOG Synonymous SNV S2642S 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.63 327117 chr13 96638650 96638650 G A rs757841447 UGGT2 Nonsynonymous SNV A323V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.96 327118 chr13 103519038 103519038 G A rs147571137 BIVM-ERCC5, ERCC5 Synonymous SNV A792A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.02 327119 chr19 10221648 10221648 G A rs143184464 PPAN, PPAN-P2RY11 Nonsynonymous SNV R357Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.607 327120 chr19 10226166 10226166 G A rs149739513 EIF3G Synonymous SNV V312V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 327121 chr2 110970087 110970087 C G MTLN Nonsynonymous SNV E88Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.96 327122 chr11 45928162 45928162 G A rs767482679 C11orf94 Synonymous SNV D85D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.082 327123 chr19 12883460 12883460 C T rs201930521 HOOK2 Synonymous SNV S141S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.31 327124 chr19 13049533 13049533 C T rs539393451 CALR Synonymous SNV L14L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.56 327125 chr19 13255458 13255458 - A rs776834288 STX10 Frameshift insertion M153Ifs*24 0 0 0.003 0 0 0 0 1 0 0 0 0 327126 chr19 1358680 1358680 G C PWWP3A Nonsynonymous SNV D82H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.933 327127 chr19 14070143 14070143 G A rs369295702 DCAF15 Synonymous SNV A357A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.025 327128 chr2 121748225 121748225 A G GLI2 Nonsynonymous SNV S1437G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 327129 chr11 5701058 5701058 C G rs369810019 TRIM5 Nonsynonymous SNV C117S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 327130 chr14 24034386 24034386 C T rs201523657 AP1G2 Nonsynonymous SNV R183Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 327131 chr2 152293393 152293393 G A rs561010329 RIF1 Synonymous SNV S416S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.03 327132 chr2 31489165 31489165 G A rs148671842 EHD3 Synonymous SNV E401E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.109 327133 chr2 155303247 155303247 T C rs183998525 GALNT13 Synonymous SNV S556S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.7 327134 chr2 157427698 157427698 G A rs147743394 GPD2 Nonsynonymous SNV R554H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 327135 chr19 18902068 18902068 T G rs370458957 COMP Nonsynonymous SNV D4A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 327136 chr1 202288063 202288063 C G rs151131659 LGR6 Nonsynonymous SNV L739V 0.001 0.003 0 0 1 1 0 0 0 0 0 0 4.692 327137 chr14 39639285 39639285 C A rs753744690 TRAPPC6B Synonymous SNV A5A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327138 chr14 42356405 42356405 C A rs928259417 LRFN5 Nonsynonymous SNV H193N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.15 327139 chr2 166786169 166786169 T C TTC21B Synonymous SNV G392G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.451 327140 chr2 163230108 163230108 C T KCNH7 Nonsynonymous SNV V1066M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 327141 chr2 165560996 165560996 T C rs777395528 COBLL1 Nonsynonymous SNV S395G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.246 327142 chr2 168102378 168102378 G A XIRP2 Stop gain W1270X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 327143 chr19 34924281 34924281 C G rs201872016 UBA2 Nonsynonymous SNV Q108E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 327144 chr2 179395959 179395959 G A rs758458467 TTN Nonsynonymous SNV A26063V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.81 327145 chr11 61070558 61070558 C A rs918285966 DDB1 Nonsynonymous SNV A968S 0 0 0 1 0 0 0.003 0 0 0 0 0 27.2 327146 chr2 75929362 75929362 T G rs149519143 GCFC2 Nonsynonymous SNV R25S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.62 327147 chr19 37853175 37853175 C T rs780540427 ZNF875 Stop gain Q100X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 327148 chr2 182767128 182767128 C T rs184179348 ITPRID2 Nonsynonymous SNV P297S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.845 327149 chr14 77297644 77297644 G A LRRC74A Nonsynonymous SNV E106K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 327150 chr19 4033144 4033144 C T rs61729791 PIAS4 Synonymous SNV T318T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.32 327151 chr2 97475180 97475180 G A rs373978823 CNNM4 Nonsynonymous SNV V752M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.71 327152 chr11 47261699 47261699 G A rs576364200 ACP2 Nonsynonymous SNV R351C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 327153 chr14 92477377 92477377 G C TRIP11 Nonsynonymous SNV R422G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.795 327154 chr2 203948020 203948020 G A rs563857369 NBEAL1 Nonsynonymous SNV D255N 0.001 0 0 0 1 0 0 0 0 0 0 0 19.01 327155 chr11 66392882 66392882 T C RBM14 Nonsynonymous SNV L512P 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 327156 chr19 45021156 45021156 C T rs771140726 CEACAM20 Stop gain W387X 0 0 0.007 0 0 0 0 2 0 0 1 0 10.43 327157 chr2 206869573 206869573 G A rs369494721 INO80D Nonsynonymous SNV A868V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327158 chr2 216229699 216229699 G T rs747253191 FN1 Nonsynonymous SNV T2179K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 327159 chr19 50102593 50102593 G T PRR12 Nonsynonymous SNV G1248V 0 0 0.007 0 0 0 0 2 0 0 1 0 14.49 327160 chr11 76873985 76873985 C A MYO7A Synonymous SNV T547T 0 0 0 1 0 0 0.003 0 0 0 0 0 20.1 327161 chr19 50961876 50961876 G A rs200844082 MYBPC2 Nonsynonymous SNV V791M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 327162 chr19 51323523 51323523 T A KLK1 Nonsynonymous SNV E128V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.315 327163 chr19 51837487 51837487 C T rs147142812 VSIG10L Nonsynonymous SNV V793I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.94 327164 chr2 228197305 228197305 G A rs866884233 MFF 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 327165 chr2 228197306 228197306 - CCG MFF 0.001 0 0 0 1 0 0 0 0 0 0 0 327166 chr15 40564760 40564760 G A BUB1B-PAK6, PAK6 Synonymous SNV V398V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 327167 chr19 52887517 52887519 ACA - rs772513853 ZNF880 Q229del 0 0 0.003 0 0 0 0 1 0 0 0 0 327168 chr3 132231919 132231919 T G DNAJC13 Synonymous SNV G1787G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.097 327169 chr19 52942562 52942562 C T rs115702949 ZNF534 Nonsynonymous SNV R589W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 327170 chr11 102819854 102819854 A C rs367612153 MMP13 Nonsynonymous SNV D317E 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 327171 chr19 53117462 53117462 G A rs329940 ZNF83 Nonsynonymous SNV T119M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 327172 chr15 41709343 41709343 A C rs564516997 RTF1 Synonymous SNV A10A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.928 327173 chr15 41815539 41815539 G A rs138609224 RPAP1 Nonsynonymous SNV P817L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 327174 chr19 53787582 53787582 A C rs142963909 FAM90A27P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.127 327175 chr15 59453417 59453417 C T rs144794852 MYO1E Synonymous SNV K880K 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.6 327176 chr19 5456564 5456564 G T ZNRF4 Synonymous SNV S354S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.569 327177 chr19 54967257 54967257 G A rs373827414 LENG8 Synonymous SNV P379P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 327178 chr2 239038804 239038804 G A rs368696053 ESPNL Synonymous SNV A115A 0.002 0 0 0 2 0 0 0 0 0 0 0 7.015 327179 chr2 239353318 239353320 GAA - ASB1 R178del 0.001 0 0 0 1 0 0 0 0 0 0 0 327180 chr19 56369591 56369591 G A rs202181962 NLRP4 Nonsynonymous SNV A278T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.29 327181 chr2 242811916 242811916 G A rs993759577 RTP5 Nonsynonymous SNV R3Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.416 327182 chr15 63069016 63069016 C T rs369376725 TLN2 Synonymous SNV A1807A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 327183 chr19 58791252 58791254 TTA - rs368590489 ZNF8-ERVK3-1 0 0 0.003 0 0 0 0 1 0 0 0 0 327184 chr2 29092789 29092789 A C TRMT61B Nonsynonymous SNV S119A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.151 327185 chr19 58989177 58989177 C T rs143035800 ZNF446 Synonymous SNV V172V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.63 327186 chr1 43119515 43119515 C T rs751006120 CCDC30 Nonsynonymous SNV S723L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.04 327187 chr19 59073803 59073803 C T rs777417118 MZF1 Nonsynonymous SNV R614H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 327188 chr19 6177347 6177347 C T rs756089553 ACSBG2 Synonymous SNV D282D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 327189 chr2 32434592 32434592 C T rs749457371 SLC30A6 Stop gain R86X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 327190 chr15 73660150 73660150 G A HCN4 Synonymous SNV R154R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.695 327191 chr19 757263 757263 G A rs202189351 MISP Nonsynonymous SNV R106H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 327192 chr19 7697281 7697281 T C rs556684470 PCP2 Nonsynonymous SNV K81E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 327193 chr19 7735205 7735205 C T rs545857396 RETN Synonymous SNV T99T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 327194 chr15 75640347 75640347 G A NEIL1 Synonymous SNV V72V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.714 327195 chr2 38546029 38546029 T C rs61758716 ATL2 Nonsynonymous SNV K166E 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 327196 chr19 8563629 8563629 G A rs200997771 PRAM1 Nonsynonymous SNV R355C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 327197 chr2 44102552 44102552 G T rs746521058 ABCG8 Nonsynonymous SNV V585L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.09 327198 chr2 47630468 47630468 C G rs33946261 MSH2 Nonsynonymous SNV H46Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 28.8 327199 chr2 49190973 49190973 C A rs6168 FSHR Synonymous SNV T303T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.589 327200 chr12 7046068 7046068 A T ATN1 Synonymous SNV P546P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.068 327201 chr11 78380037 78380037 C T rs201769315 TENM4 Nonsynonymous SNV M2451I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 327202 chr19 9068239 9068239 G A rs7252882 MUC16 Nonsynonymous SNV L6403F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 327203 chr19 9074017 9074017 A G rs115553479 MUC16 Nonsynonymous SNV S4477P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.749 327204 chr11 92615971 92615971 T C FAT3 Nonsynonymous SNV F4117L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 327205 chr2 61577455 61577455 A G rs371931763 USP34 Nonsynonymous SNV S483P 0.001 0 0 0 1 0 0 0 0 0 0 0 29 327206 chr19 9524425 9524425 G C ZNF266 Synonymous SNV S392S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.035 327207 chr1 100336354 100336354 T G rs748142986 AGL Nonsynonymous SNV L296R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 327208 chr1 10166583 10166583 C T rs547751822 UBE4B Nonsynonymous SNV P380S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 327209 chr1 10386362 10386362 A G rs556117169 KIF1B Nonsynonymous SNV S911G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.11 327210 chr12 331782 331782 G A rs373514419 SLC6A13 Synonymous SNV Y385Y 0 0 0 1 0 0 0.003 0 0 0 0 0 4.174 327211 chr12 11214387 11214387 C A rs575734028 TAS2R46 Nonsynonymous SNV R169S 0 0 0 1 0 0 0.003 0 0 0 0 0 1.221 327212 chr1 67147853 67147853 G A rs139355833 SGIP1 Synonymous SNV S376S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.762 327213 chr1 109745551 109745551 C G rs757352297 KIAA1324 Nonsynonymous SNV T895S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 327214 chr2 74474231 74474231 G C rs148296977 SLC4A5 Nonsynonymous SNV P664R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 327215 chr12 13906748 13906748 G A rs3026183 GRIN2B Synonymous SNV I171I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 12.37 327216 chr12 14019120 14019120 C T GRIN2B Nonsynonymous SNV C8Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.409 327217 chr1 110655541 110655541 C T UBL4B Nonsynonymous SNV H129Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 327218 chr11 111395640 111395640 G A rs143426747 C11orf88 Synonymous SNV V124V 0.002 0 0 0 2 0 0 0 0 0 0 0 0.676 327219 chr11 119064503 119064503 G A rs750889329 CCDC153 Stop gain R77X 0.001 0 0 0 1 0 0 0 0 0 0 0 31 327220 chr3 51907672 51907674 CAT - rs943804394 IQCF5-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 327221 chr12 46244372 46244372 C T rs141401951 ARID2 Synonymous SNV I822I 0 0 0 2 0 0 0.005 0 0 0 0 1 Likely benign 10.53 327222 chr3 108081244 108081244 T C HHLA2 Synonymous SNV S353S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 327223 chr11 123483475 123483475 C G rs755693230 GRAMD1B Synonymous SNV S459S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.57 327224 chr1 152325911 152325911 C T rs768696022 FLG2 Nonsynonymous SNV G1451R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.362 327225 chr16 3304482 3304482 C A rs104895179 MEFV Nonsynonymous SNV G196W 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.579 327226 chr1 153930924 153930929 GAAGCC - CRTC2 A16_S17del 0 0 0.003 0 0 0 0 1 0 0 0 0 327227 chr16 22087020 22087020 - TGATCCTTTTCTGTATGGCT MOSMO Stop gain A114* 0.001 0 0 0 1 0 0 0 0 0 0 0 327228 chr1 155223493 155223493 T C FAM189B Nonsynonymous SNV I86V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.242 327229 chr16 4432672 4432672 T C rs370088997 VASN Synonymous SNV C598C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 327230 chr12 55759514 55759514 T C rs151159720 OR6C75 Nonsynonymous SNV V207A 0 0 0 1 0 0 0.003 0 0 0 0 0 11.29 327231 chr16 4475905 4475905 G A rs202141965 DNAJA3 Nonsynonymous SNV R8H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 327232 chr16 4700418 4700418 C A rs35046817 MGRN1 Synonymous SNV P47P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.73 327233 chr4 10444803 10444803 C G ZNF518B Nonsynonymous SNV E1050D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 327234 chr3 123953756 123953756 C A rs144465315 KALRN Synonymous SNV R75R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 327235 chr12 56755354 56755354 T C rs771180959 APOF Synonymous SNV E212E 0 0 0 1 0 0 0.003 0 0 0 0 0 2.026 327236 chr3 124390592 124390592 C A KALRN Nonsynonymous SNV S533R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.35 327237 chr1 156756488 156756488 A T rs370116830 PRCC Nonsynonymous SNV H202L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 327238 chr16 8895724 8895724 C T rs748980961 PMM2 Synonymous SNV G45G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 20.2 327239 chr3 128182018 128182018 C T rs140964428 DNAJB8 Nonsynonymous SNV R24H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327240 chr1 167815319 167815319 G A rs369190703 ADCY10 Nonsynonymous SNV R721W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 327241 chr1 169495234 169495234 A G rs377129476 F5 Nonsynonymous SNV M1874T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.8 327242 chr12 10103948 10103948 G A rs941565890 CLEC12A Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 0.053 327243 chr1 169825084 169825084 C T rs533188013 SCYL3 Nonsynonymous SNV V443I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.308 327244 chr1 172002367 172002367 C G DNM3 Nonsynonymous SNV R271G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 327245 chr1 172007565 172007565 C A rs552393073 DNM3 Nonsynonymous SNV P319Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 327246 chr12 10999793 10999793 G T PRR4 Nonsynonymous SNV Q92K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 327247 chr3 137958344 137958344 A G ARMC8 Nonsynonymous SNV T198A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.77 327248 chr1 180068112 180068112 C T rs758965465 CEP350 Nonsynonymous SNV H3061Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 327249 chr3 15116271 15116271 G A RBSN Nonsynonymous SNV P458L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 327250 chr12 108004106 108004106 G A rs142214499 BTBD11 Nonsynonymous SNV D132N 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 327251 chr12 108029110 108029110 G A rs769529900 BTBD11 Nonsynonymous SNV G431R 0 0 0 1 0 0 0.003 0 0 0 0 0 35 327252 chr1 183207464 183207464 G A rs201251711 LAMC2 Nonsynonymous SNV R926H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 327253 chr1 183515469 183515469 T C rs752882312 SMG7 Synonymous SNV F871F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 327254 chr1 186034424 186034424 A C rs536487843 HMCN1 Nonsynonymous SNV D2523A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 327255 chr1 186099134 186099134 T C rs79183244 HMCN1 Nonsynonymous SNV V4314A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.2 327256 chr3 167196701 167196701 C A WDR49 Stop gain E687X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 327257 chr12 111908467 111908467 C T rs374753131 ATXN2 Synonymous SNV P737P 0 0 0 1 0 0 0.003 0 0 0 0 0 17 327258 chr3 172674475 172674475 A C rs199512283 SPATA16 Nonsynonymous SNV M358R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.27 327259 chr1 197169483 197169483 C T rs771213462 ZBTB41 Nonsynonymous SNV G41R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 327260 chr1 200957927 200957927 C T KIF21B Nonsynonymous SNV E1089K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 327261 chr12 71526522 71526522 T C TSPAN8 Nonsynonymous SNV D176G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 327262 chr12 48596504 48596504 C A rs746103920 OR10AD1 Nonsynonymous SNV G191V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 327263 chr12 49426894 49426894 T C KMT2D Nonsynonymous SNV Q3865R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 327264 chr12 122399946 122399946 C T rs768384403 WDR66 Synonymous SNV T790T 0 0 0 1 0 0 0.003 0 0 0 0 0 8.471 327265 chr12 124401036 124401036 G A DNAH10 Synonymous SNV K3467K 0 0 0 1 0 0 0.003 0 0 0 0 0 12.35 327266 chr4 3447063 3447063 G A rs140988254 HGFAC Nonsynonymous SNV R363H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.88 327267 chr1 207317248 207317248 A G rs771242032 C4BPA Synonymous SNV Q510Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 327268 chr1 20879697 20879697 G A rs748829058 FAM43B Synonymous SNV L77L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.42 327269 chr3 195605956 195605956 G A rs376767437 TNK2 Synonymous SNV Y350Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.135 327270 chr3 196281506 196281506 T C WDR53 Nonsynonymous SNV D57G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 327271 chr1 214815470 214815470 C T CENPF Synonymous SNV D1263D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.67 327272 chr1 22186472 22186472 C T rs746299787 HSPG2 Nonsynonymous SNV E1681K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 327273 chr21 34067368 34067368 T C SYNJ1 Nonsynonymous SNV Q235R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 327274 chr21 34067369 34067369 G T SYNJ1 Nonsynonymous SNV Q235K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 327275 chr1 226186978 226186978 G A rs201347746 SDE2 Synonymous SNV G12G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 327276 chr13 33332344 33332344 C T rs187975521 PDS5B Nonsynonymous SNV A1059V 0 0 0 1 0 0 0.003 0 0 0 0 0 23 327277 chr3 40456307 40456307 C A rs139278593 ENTPD3 Nonsynonymous SNV N191K 0.001 0 0 0 1 0 0 0 0 0 0 0 33 327278 chr3 40503532 40503532 - CTGCTGCTGCTGCTG RPL14 A159_K160insAAAAA 0.001 0 0 0 1 0 0 0 0 0 0 0 327279 chr1 2290034 2290034 G A rs142272685 MORN1 Nonsynonymous SNV P289L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 327280 chr12 71977821 71977821 A G rs138932490 LGR5 Synonymous SNV P653P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.228 327281 chr3 45637650 45637650 G A rs150625150 LIMD1 Nonsynonymous SNV V427I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 327282 chr1 235875448 235875448 A G rs901343967 LYST Synonymous SNV T3278T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.614 327283 chr13 52532453 52532453 C G rs778848412 ATP7B Nonsynonymous SNV L699F 0 0 0 1 0 0 0.003 0 0 0 0 0 19.92 327284 chr21 46596102 46596102 C T rs148155796 ADARB1 Synonymous SNV N211N 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.062 327285 chr13 70535484 70535484 A G rs200511679 KLHL1 Nonsynonymous SNV I197T 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 327286 chr1 236758851 236758851 T C rs149968331 HEATR1 Nonsynonymous SNV H360R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.475 327287 chr13 86368231 86368231 A G rs200882739 SLITRK6 Nonsynonymous SNV Y805H 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 327288 chr13 86369068 86369068 C T rs370565374 SLITRK6 Nonsynonymous SNV V526I 0 0 0 1 0 0 0.003 0 0 0 0 0 15.6 327289 chr1 242162299 242162299 T C rs139360631 MAP1LC3C Synonymous SNV P4P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.529 327290 chr4 86915987 86915987 G A ARHGAP24 Nonsynonymous SNV A201T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 327291 chr3 50143007 50143007 G A rs772965074 RBM5 Synonymous SNV P240P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 327292 chr3 56330144 56330144 T C rs375386165 ERC2 Nonsynonymous SNV N326S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.194 327293 chr13 114322338 114322338 G A rs145498429 GRK1 Nonsynonymous SNV G213S 0 0 0 1 0 0 0.003 0 0 0 0 0 32 327294 chr17 6023887 6023887 T C rs371276629 WSCD1 Nonsynonymous SNV M545T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 327295 chr3 58519730 58519730 A G rs763209788 ACOX2 Synonymous SNV L156L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.1 327296 chr5 118274977 118274977 T A DTWD2 Nonsynonymous SNV K40N 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 327297 chr12 113909175 113909175 G A rs201815436 LHX5 Synonymous SNV C43C 0.001 0 0 0 1 0 0 0 0 0 0 0 5.76 327298 chr3 85851270 85851270 G C rs146842915 CADM2 Nonsynonymous SNV R45S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 327299 chr3 81635248 81635248 T G GBE1 Nonsynonymous SNV I444L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 327300 chr1 2984119 2984119 G T rs989428225 PRDM16-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 3.867 327301 chr3 89499366 89499366 C A rs142030914 EPHA3 Nonsynonymous SNV P846T 0.001 0 0 0 1 0 0 0 0 0 0 0 29 327302 chr1 32205575 32205575 C T rs758481114 ADGRB2 Nonsynonymous SNV D707N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 327303 chr1 3425703 3425703 G A rs375052886 MEGF6 Synonymous SNV D488D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.739 327304 chr1 36354167 36354167 C T rs143228790 AGO1 Synonymous SNV Y55Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.2 327305 chr17 10215975 10215975 T C rs773007854 MYH13 Synonymous SNV G1427G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.077 327306 chr14 23889403 23889403 C T rs1005639082 MYH7 Nonsynonymous SNV R1126H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 327307 chr4 100529960 100529960 G A rs41275711 MTTP Nonsynonymous SNV R559H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.7 327308 chr1 41304113 41304113 A G rs749565877 KCNQ4 Nonsynonymous SNV H615R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.2 327309 chr17 10409346 10409346 T C rs144853441 MYH1 Nonsynonymous SNV N680S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.88 327310 chr14 24679928 24679928 G A rs117552046 CHMP4A Stop gain Q136X 0 0 0 1 0 0 0.003 0 0 0 0 0 39 327311 chr17 12877525 12877536 CGCCCCTGCCTT - ARHGAP44 S352_P355del 0.001 0 0 0 1 0 0 0 0 0 0 0 327312 chr1 43772659 43772659 C T rs757103161 TIE1 Synonymous SNV I166I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.5 327313 chr1 44070971 44070971 C A rs761716835 PTPRF Nonsynonymous SNV S778R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 327314 chr1 45232782 45232782 C T rs138360889 KIF2C Synonymous SNV A662A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 327315 chr17 17250197 17250197 G A rs145194793 NT5M Nonsynonymous SNV R208H 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.84 327316 chr1 45363050 45363050 G A rs139526549 EIF2B3 Synonymous SNV I211I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.94 327317 chr1 47276840 47276840 C T rs200440657 CYP4B1 Synonymous SNV F117F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.11 327318 chr14 39650884 39650884 T C PNN Synonymous SNV T657T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.082 327319 chr14 39716663 39716663 A T MIA2 Synonymous SNV A295A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.007 327320 chr14 50778801 50778801 G A L2HGDH Nonsynonymous SNV S23F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.168 327321 chr1 55457762 55457762 C T rs77726087 TMEM61 Nonsynonymous SNV R207W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 327322 chr13 35517059 35517059 T C rs767393352 NBEA Synonymous SNV G34G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 327323 chr13 37427769 37427769 G A rs141357701 SMAD9 Synonymous SNV C312C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.59 327324 chr4 140187947 140187947 G A rs148366930 MGARP Nonsynonymous SNV P177S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.55 327325 chr14 60485101 60485101 G T rs775748818 LRRC9 Nonsynonymous SNV L1110F 0 0 0 1 0 0 0.003 0 0 0 0 0 20.5 327326 chr4 147796038 147796038 T C TTC29 Nonsynonymous SNV Q210R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.37 327327 chr14 65260425 65260425 C G SPTB Nonsynonymous SNV W652C 0 0 0 1 0 0 0.003 0 0 0 0 0 29.1 327328 chr1 8025394 8025394 C T rs772272696 PARK7 Nonsynonymous SNV T34I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.89 327329 chr1 8418896 8418896 C T rs761098792 RERE Synonymous SNV E679E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.57 327330 chr4 164775175 164775175 A G rs533709663 MARCHF1 Synonymous SNV L37L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.883 327331 chr14 71267725 71267725 C T rs142171628 MAP3K9 Nonsynonymous SNV R160H 0 0 0 1 0 0 0.003 0 0 0 0 0 34 327332 chr14 72138225 72138225 A G rs138550556 SIPA1L1 Nonsynonymous SNV N882S 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 327333 chr4 169083741 169083741 C T rs778182459 ANXA10 Synonymous SNV L86L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 327334 chr4 169296571 169296571 C T rs754779863 DDX60L Synonymous SNV S1530S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.15 327335 chr14 74058950 74058950 G A ACOT4 Nonsynonymous SNV R96Q 0 0 0 1 0 0 0.003 0 0 0 0 0 25.8 327336 chr1 87558242 87558242 A G rs138285579 HS2ST1 Nonsynonymous SNV I160V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 327337 chr17 39017974 39017974 T C rs150149178 KRT12 Nonsynonymous SNV Q475R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 327338 chr14 74422529 74422529 G C COQ6 Nonsynonymous SNV A127P 0 0 0 1 0 0 0.003 0 0 0 0 0 32 327339 chr14 74422530 74422530 C T COQ6 Nonsynonymous SNV A127V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 327340 chr13 103396724 103396724 G A rs116419644 CCDC168 Nonsynonymous SNV S2108F 0.001 0 0 0 1 0 0 0 0 0 0 0 5.964 327341 chr13 103399505 103399505 G A rs114377302 CCDC168 Nonsynonymous SNV P1181L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.83 327342 chr13 103400431 103400431 C T rs116338756 CCDC168 Synonymous SNV R872R 0.001 0 0 0 1 0 0 0 0 0 0 0 6.196 327343 chr4 177071731 177071731 T C WDR17 Nonsynonymous SNV I764T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.4 327344 chr14 76165549 76165549 G A rs141614130 TTLL5 Nonsynonymous SNV R174Q 0 0.003 0 1 0 1 0.003 0 0 0 0 0 Uncertain significance 24.3 327345 chr4 187540917 187540917 C T rs558300184 FAT1 Nonsynonymous SNV D2275N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 327346 chr4 2083359 2083359 C T rs143143974 POLN 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 327347 chr20 16730627 16730627 A C rs778893361 OTOR Nonsynonymous SNV Q112P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 327348 chr20 17608164 17608164 A G rs569723463 RRBP1 Synonymous SNV D971D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.695 327349 chr14 100759220 100759220 G A rs377430521 SLC25A29 Synonymous SNV A38A 0 0 0 1 0 0 0.003 0 0 0 0 0 8.206 327350 chr2 138414450 138414450 G A rs565075278 THSD7B Nonsynonymous SNV R1397H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 327351 chr20 1896028 1896028 T C rs757071933 SIRPA Synonymous SNV C121C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.026 327352 chr4 38800362 38800362 T C rs140255888 TLR1 Nonsynonymous SNV R31G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.48 327353 chr17 47778838 47778838 A G SLC35B1 Synonymous SNV A250A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.483 327354 chr17 48458188 48458188 G A rs368108611 EME1 Nonsynonymous SNV R547H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 327355 chr20 25276304 25276304 C T rs202186644 PYGB Nonsynonymous SNV R793W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 327356 chr20 2636147 2636147 G A rs747389416 NOP56 Nonsynonymous SNV R249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 327357 chr20 30818806 30818806 A G POFUT1 Nonsynonymous SNV Y307C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 327358 chr4 48896022 48896022 C T rs368446627 OCIAD2 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 327359 chr20 31659914 31659914 C T rs775466758 BPIFB3 Nonsynonymous SNV S422L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 327360 chr17 75478296 75478296 G A rs771708610 SEPTIN9 Synonymous SNV A152A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 327361 chr20 34148339 34148339 G A rs558875408 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 14.74 327362 chr15 33795868 33795868 C T RYR3 Synonymous SNV L70L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.24 327363 chr20 35695443 35695443 G A rs527413075 RBL1 Nonsynonymous SNV A213V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 327364 chr20 35882700 35882700 C T rs201379161 GHRH Nonsynonymous SNV R74Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 327365 chr4 57237664 57237664 T C AASDH Nonsynonymous SNV K172E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.959 327366 chr5 7520878 7520878 G A rs141561787 ADCY2 Nonsynonymous SNV V146M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 327367 chr17 61889456 61889456 G C DDX42 Nonsynonymous SNV E521D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 327368 chr2 17941269 17941269 G A rs375511356 GEN1 Nonsynonymous SNV R20H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.525 327369 chr17 66539861 66539861 G A rs746063338 FAM20A Stop gain Q241X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 327370 chr20 44168023 44168023 T A rs764595658 WFDC6 Synonymous SNV P8P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.781 327371 chr15 42155062 42155062 C G rs199930013 SPTBN5 Nonsynonymous SNV E2397Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 327372 chr4 7043042 7043042 C T rs201230911 CCDC96 Nonsynonymous SNV V542M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.87 327373 chr20 44451995 44451995 C T rs777709485 TNNC2 Nonsynonymous SNV V159M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 327374 chr4 72400099 72400099 A G rs34772799 SLC4A4 Synonymous SNV K768K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 1.499 327375 chr20 47866024 47866024 G T rs201256642 ZNFX1 Synonymous SNV V1179V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 327376 chr17 72206134 72206137 TTTC - MGC16275 0.002 0 0 0 2 0 0 0 1 0 0 0 327377 chr2 182981936 182981936 G C PPP1R1C Nonsynonymous SNV V82L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.67 327378 chr4 74846925 74846925 C G rs111283987 PF4 Nonsynonymous SNV S110T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 327379 chr4 7668921 7668921 C T rs369885447 SORCS2 Nonsynonymous SNV P381L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 327380 chr2 186670870 186670870 G A rs867205063 FSIP2 Nonsynonymous SNV D5613N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 327381 chr14 63417074 63417074 G A rs935316216 KCNH5 Synonymous SNV T382T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.674 327382 chr4 79503439 79503439 A G rs771235931 ANXA3 Nonsynonymous SNV M103V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.21 327383 chr20 5932795 5932795 G A rs577098006 MCM8 Nonsynonymous SNV G45E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 327384 chr20 5943932 5943932 G C MCM8 Nonsynonymous SNV V268L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.485 327385 chr20 60485631 60485631 G A rs143730774 CDH4 Nonsynonymous SNV V411I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.197 327386 chr20 60589762 60589762 T A rs763389644 TAF4 Synonymous SNV G454G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.805 327387 chr4 8391455 8391455 C T rs199993833 ACOX3 Nonsynonymous SNV R436Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 327388 chr20 60907719 60907719 C T rs749339425 LAMA5 Nonsynonymous SNV V1113M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.19 327389 chr15 63986651 63986651 G A rs374580110 HERC1 Synonymous SNV N1780N 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 1.732 327390 chr4 89304530 89304533 TAAG - rs774832983 HERC6 K121del 0.001 0 0 0 1 0 0 0 0 0 0 0 327391 chr20 62193061 62193061 A G rs779704839 HELZ2 Synonymous SNV R1674R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 327392 chr15 65917879 65917879 G A SLC24A1 Synonymous SNV K487K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.634 327393 chr14 77493762 77493773 TGCTGCTGCTGC - rs773318854 IRF2BPL Q124_Q127del 0.001 0 0 0 1 0 0 0 0 0 0 0 327394 chr14 77493768 77493773 TGCTGC - IRF2BPL Q126_Q127del 0.001 0 0 0 1 0 0 0 0 0 0 0 327395 chr15 69328185 69328185 C T rs769118589 NOX5 Nonsynonymous SNV S338L 0 0 0 1 0 0 0.003 0 0 0 0 0 4.394 327396 chr5 112256939 112256939 C G rs148583569 REEP5 Nonsynonymous SNV V45L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.359 327397 chr14 89093216 89093216 C T rs368772417 EML5 Nonsynonymous SNV R1569Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 327398 chr17 79918698 79918698 C G NOTUM Nonsynonymous SNV G30R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 327399 chr5 118506163 118506163 A C rs916261755 DMXL1 Synonymous SNV R1893R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 327400 chr15 78390339 78390339 A G SH2D7 Nonsynonymous SNV D112G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 327401 chr21 38095389 38095389 C T rs202186952 SIM2 Synonymous SNV V167V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 327402 chr21 38593671 38593671 G T rs573686088 DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 4.427 327403 chr5 132149876 132149876 C T rs755128478 SOWAHA Nonsynonymous SNV P188L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.111 327404 chr15 85478259 85478259 A T SLC28A1 Nonsynonymous SNV D406V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 327405 chr21 43528527 43528527 C T rs115959685 UMODL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.74 327406 chr14 101004761 101004761 T C BEGAIN Nonsynonymous SNV S443G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.299 327407 chr21 43913146 43913146 C T rs145742147 RSPH1 Nonsynonymous SNV R33H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.543 327408 chr21 45217936 45217936 C T rs200937759 RRP1 Nonsynonymous SNV R256C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.979 327409 chr21 45928769 45928769 G A rs199923733 TSPEAR-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.041 327410 chr14 105055004 105055004 G A rs370780261 C14orf180 Nonsynonymous SNV G123S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.234 327411 chr18 22057307 22057307 A C HRH4 Synonymous SNV P230P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 327412 chr15 24924060 24924060 G T rs74942536 NPAP1 Nonsynonymous SNV D1016Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.45 327413 chr22 19898951 19898951 T C rs199765650 TXNRD2 Nonsynonymous SNV Y204C 0 0 0.007 0 0 0 0 2 0 0 1 0 Uncertain significance 25 327414 chr5 140811344 140811344 G T rs151011884 PCDHGA12 Nonsynonymous SNV V340L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 327415 chr5 143545064 143545064 G A YIPF5 Nonsynonymous SNV A18V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 327416 chr5 145883514 145883514 A G TCERG1 Nonsynonymous SNV E871G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 327417 chr5 147012313 147012313 C T rs147081668 JAKMIP2 Nonsynonymous SNV R548Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 327418 chr18 47311574 47311574 C T rs745865904 ACAA2 Nonsynonymous SNV E368K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 327419 chr15 101114293 101114293 G C rs775479448 LINS1 Nonsynonymous SNV S262C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 327420 chr15 101606268 101606268 G A rs369774424 LRRK1 Nonsynonymous SNV E1876K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 327421 chr22 24313743 24313743 T G rs557754092 DDT Nonsynonymous SNV L118F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 327422 chr22 24621364 24621364 A C rs542440435 GGT5 Nonsynonymous SNV V375G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.679 327423 chr22 24622109 24622109 C T rs531021500 GGT5 Synonymous SNV T311T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.148 327424 chr22 24698244 24698244 T C rs202073203 SPECC1L Synonymous SNV S15S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.97 327425 chr15 41366650 41366650 T C INO80 Synonymous SNV L415L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.001 327426 chr16 324966 324966 C T RGS11 Nonsynonymous SNV G110R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.344 327427 chr22 26270322 26270322 G A rs377101901 MYO18B Nonsynonymous SNV V1342I 0 0 0.007 0 0 0 0 2 0 0 1 0 6.323 327428 chr18 55319733 55319733 T C rs183371188 ATP8B1 Nonsynonymous SNV I1032V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.41 327429 chr16 615296 615296 G A rs775769148 PRR35 Nonsynonymous SNV A569T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.36 327430 chr15 78308897 78308897 T G TBC1D2B Nonsynonymous SNV H589P 0 0 0 1 0 0 0.003 0 0 0 0 0 16.99 327431 chr16 733201 733201 C A JMJD8 Nonsynonymous SNV G152V 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 327432 chr22 31487124 31487124 C T rs149616349 SMTN Nonsynonymous SNV T428I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 327433 chr15 44952690 44952690 T G SPG11 Nonsynonymous SNV T128P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 327434 chr16 1391349 1391349 G A rs145056617 BAIAP3 Nonsynonymous SNV R197Q 0 0 0 1 0 0 0.003 0 0 0 0 0 7.584 327435 chr5 161569267 161569267 A G GABRG2 Synonymous SNV L289L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.472 327436 chr22 38120253 38120253 A G rs777175618 TRIOBP Nonsynonymous SNV T564A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.321 327437 chr22 39262712 39262712 G T rs540689845 CBX6 Synonymous SNV P229P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 327438 chr5 175956036 175956036 G A RNF44 Nonsynonymous SNV A431V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 327439 chr16 2231154 2231154 G A rs754235888 CASKIN1 Nonsynonymous SNV P739S 0.001 0 0 1 1 0 0.003 0 0 0 0 0 0.002 327440 chr2 27294268 27294268 A G OST4 Synonymous SNV L21L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.311 327441 chr16 3712028 3712028 G T TRAP1 Nonsynonymous SNV R581S 0 0 0 1 0 0 0.003 0 0 0 0 0 26.6 327442 chr5 179192495 179192495 G A rs370463621 MAML1 Nonsynonymous SNV G162S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 327443 chr5 179222666 179222666 A G LTC4S Nonsynonymous SNV E47G 0.001 0 0 0 1 0 0 0 0 0 0 0 32 327444 chr22 46804919 46804919 C G rs763774925 CELSR1 Nonsynonymous SNV G1734R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 327445 chr16 4941944 4941944 A G rs746981597 PPL Synonymous SNV D612D 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 327446 chr22 50191485 50191485 G A rs145415691 BRD1 Nonsynonymous SNV A684V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.92 327447 chr16 11009430 11009430 G A rs200599265 CIITA Synonymous SNV L380L 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.34 327448 chr19 3434280 3434280 G A rs529235700 NFIC Nonsynonymous SNV V239M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 327449 chr2 100210074 100210074 G A rs1047281 AFF3 Synonymous SNV S708S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 327450 chr19 4433211 4433211 C T rs201972593 CHAF1A Nonsynonymous SNV T783I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 327451 chr5 39331886 39331886 G A rs776419891 C9 Synonymous SNV S169S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.52 327452 chr19 4512319 4512319 C G rs371043796 PLIN4 Nonsynonymous SNV Q551H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.59 327453 chr19 4512350 4512350 C G rs371916858 PLIN4 Nonsynonymous SNV S541T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.394 327454 chr16 23541080 23541080 G A rs376227171 EARS2 Synonymous SNV I402I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 14.78 327455 chr5 50057721 50057721 T G rs766821311 PARP8 Nonsynonymous SNV Y138D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 327456 chr2 11355096 11355096 T C rs375342959 ROCK2 Synonymous SNV L516L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.116 327457 chr16 28515316 28515316 G A IL27 Synonymous SNV F29F 0 0 0 1 0 0 0.003 0 0 0 0 0 9.732 327458 chr5 54529218 54529218 G T rs139606873 CCNO Nonsynonymous SNV P45H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 327459 chr15 88679773 88679773 A G NTRK3 Synonymous SNV T230T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.331 327460 chr2 127821592 127821592 G A rs748308882 BIN1 Synonymous SNV A174A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 327461 chr2 127958830 127958830 C T rs548716467 CYP27C1 Nonsynonymous SNV E86K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.3 327462 chr16 31154151 31154151 G A PRSS36 Synonymous SNV L422L 0 0 0 1 0 0 0.003 0 0 0 0 0 11.82 327463 chr6 89554104 89554104 G A rs147650416 RNGTT Nonsynonymous SNV P354L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327464 chr2 152484297 152484297 G A rs750990726 NEB Nonsynonymous SNV R3052W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 327465 chr5 75427791 75427791 C G SV2C Nonsynonymous SNV D72E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 327466 chr16 321407 321407 C T RGS11 Nonsynonymous SNV C63Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 327467 chr2 167134780 167134780 A G SCN9A Nonsynonymous SNV I796T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 327468 chr16 69368439 69368439 T C rs369610000 COG8 Synonymous SNV E466E 0 0.003 0 1 0 1 0.003 0 0 0 0 0 0.103 327469 chr5 82789662 82789662 T C rs912342245 VCAN Synonymous SNV D220D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.702 327470 chr16 72821602 72821602 - GCC ZFHX3 G2613_S2614insG 0 0 0 1 0 0 0.003 0 0 0 0 0 327471 chr2 174229699 174229699 C A rs148421045 CDCA7 Synonymous SNV T213T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 327472 chr2 179197651 179197651 G A rs764936609 OSBPL6 Synonymous SNV R159R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 327473 chr2 179413573 179413573 A T rs531432790 TTN Nonsynonymous SNV I21862K 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.6 327474 chr3 113377207 113377207 T C rs112398601 USF3 Nonsynonymous SNV T1108A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 327475 chr2 179459288 179459288 A G rs554555894 TTN Synonymous SNV D10246D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.533 327476 chr6 101253677 101253677 A C ASCC3 Nonsynonymous SNV F294C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 327477 chr7 100655593 100655593 G A rs370515431 MUC12 Nonsynonymous SNV V5090I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.41 327478 chr16 84199541 84199541 A G rs779981792 DNAAF1 Nonsynonymous SNV E87G 0 0 0 1 0 0 0.003 0 0 0 0 0 12.17 327479 chr2 180853370 180853370 G A CWC22 Nonsynonymous SNV P10L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 327480 chr19 13875409 13875409 C T rs1011519325 MRI1 Synonymous SNV L3L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 327481 chr16 84497336 84497336 T C rs568403499 ATP2C2 X796Q 0 0 0 1 0 0 0.003 0 0 0 0 0 17.82 327482 chr7 106508442 106508442 G C rs200355499 PIK3CG Nonsynonymous SNV E146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.01 327483 chr16 4935135 4935135 A C PPL Nonsynonymous SNV V1174G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 327484 chr6 129714329 129714329 G T rs746201268 LAMA2 Stop gain E1792X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 47 327485 chr2 201337769 201337769 C T rs201057934 SPATS2L Synonymous SNV N356N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.062 327486 chr6 135239941 135239941 T C rs149883779 ALDH8A1 Nonsynonymous SNV D309G 0.001 0 0 0 1 0 0 0 0 0 0 0 9.678 327487 chr6 137041705 137041705 G A rs1023428756 MAP3K5 Synonymous SNV S157S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 327488 chr3 130816510 130816510 C G rs113972457 NEK11 Nonsynonymous SNV N131K 0.002 0 0 0 2 0 0 0 1 0 0 0 0.809 327489 chr2 209007578 209007578 T C rs200750137 CRYGB Synonymous SNV S104S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.162 327490 chr6 151152433 151152433 A T rs200967817 PLEKHG1 Nonsynonymous SNV Q690L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.047 327491 chr2 216199674 216199674 G A rs147114143 ATIC Nonsynonymous SNV V319I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.836 327492 chr2 217279499 217279499 A G rs199805770 SMARCAL1 Synonymous SNV R24R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.518 327493 chr2 220107263 220107263 C T rs553553552 GLB1L Nonsynonymous SNV E142K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.314 327494 chr6 159166683 159166683 T G SYTL3 Nonsynonymous SNV C137G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 327495 chr6 159420841 159420841 - G rs751193355 RSPH3 Frameshift insertion D57Rfs*34 0.001 0 0 0 1 0 0 0 0 0 0 0 327496 chr16 31496141 31496141 T A SLC5A2 Nonsynonymous SNV V67D 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 327497 chr6 159655365 159655365 G A rs182692927 FNDC1 Nonsynonymous SNV G1274D 0.001 0 0 0 1 0 0 0 0 0 0 0 8.615 327498 chr6 160517598 160517598 C T rs201644736 IGF2R Synonymous SNV H2261H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.96 327499 chr6 160899714 160899714 C - LPAL2 0.001 0 0 0 1 0 0 0 0 0 0 0 327500 chr19 36332622 36332622 C T rs201194276 NPHS1 Nonsynonymous SNV S937N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 327501 chr6 17601161 17601161 C T FAM8A1 Nonsynonymous SNV P174L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 327502 chr6 17987317 17987317 G A rs751457405 KIF13A Synonymous SNV H38H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.92 327503 chr7 21775421 21775421 G C DNAH11 Nonsynonymous SNV R2535P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 327504 chr3 186006643 186006643 G A rs201073740 DGKG Nonsynonymous SNV P134S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.406 327505 chr19 41307029 41307029 C T rs1014086658 EGLN2 Synonymous SNV P184P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.24 327506 chr2 242946008 242946008 G A rs748175497 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 1.323 327507 chr2 27447221 27447221 C T CAD Nonsynonymous SNV R373W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 327508 chr3 195028002 195028002 A G rs142951006 ACAP2 Synonymous SNV H320H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.483 327509 chr3 195477867 195477867 G A rs137940766 MUC4 Nonsynonymous SNV A968V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.64 327510 chr6 36262096 36262096 C T rs889544593 PNPLA1 Nonsynonymous SNV R126C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 327511 chr2 37316855 37316855 G A rs968898317 GPATCH11 Synonymous SNV Q66Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.358 327512 chr19 47735782 47735782 G T BBC3 Stop gain C26X 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 327513 chr3 38048158 38048158 C A rs113195640 VILL Nonsynonymous SNV D605E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.13 327514 chr6 43413359 43413359 C G ABCC10 Nonsynonymous SNV A990G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 327515 chr3 38103713 38103713 G A rs148212000 DLEC1 Nonsynonymous SNV V243I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 327516 chr3 38103849 38103849 A G rs75961453 DLEC1 Nonsynonymous SNV E288G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.065 327517 chr3 38167151 38167151 G A rs76106932 ACAA1 Synonymous SNV P275P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 327518 chr3 38180227 38180227 C G rs79867863 MYD88 Synonymous SNV A12A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.37 327519 chr3 38347840 38347840 C A rs9847584 SLC22A14 Nonsynonymous SNV P108H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.4 327520 chr16 88801192 88801192 C T PIEZO1 Synonymous SNV L621L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 327521 chr2 63720067 63720067 T A rs144703991 WDPCP Nonsynonymous SNV D28V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.85 327522 chr6 46135768 46135768 T A rs773329783 ENPP5 Nonsynonymous SNV T78S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 327523 chr6 46135779 46135779 G C rs763011708 ENPP5 Nonsynonymous SNV P74R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 327524 chr17 35601740 35601740 C T rs925764196 SNORA90 0 0 0 1 0 0 0.003 0 0 0 0 0 0.837 327525 chr6 46659532 46659532 G A rs993658383 TDRD6 Nonsynonymous SNV E1223K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.932 327526 chr17 38324639 38324639 C A CASC3 Nonsynonymous SNV P645Q 0 0 0 1 0 0 0.003 0 0 0 0 0 33 327527 chr17 38548936 38548936 T C rs374189262 TOP2A Nonsynonymous SNV K1289E 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 327528 chr17 976883 976883 C T ABR Synonymous SNV R27R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.73 327529 chr6 66044942 66044942 T G rs763753407 EYS Nonsynonymous SNV N566T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 327530 chr17 39537978 39537978 C T rs372070920 KRT34 Nonsynonymous SNV D182N 0 0 0 1 0 0 0.003 0 0 0 0 0 32 327531 chr6 76657044 76657044 G C rs200959900 IMPG1 Synonymous SNV L599L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.192 327532 chr17 4448345 4448345 G A rs371780582 MYBBP1A Synonymous SNV T762T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 327533 chr6 87969636 87969636 C G rs758969434 ZNF292 Nonsynonymous SNV P2097A 0.001 0 0.003 0 1 0 0 1 0 0 0 0 23 327534 chr3 49570289 49570289 A G DAG1 Nonsynonymous SNV K782R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 327535 chr17 41107226 41107226 A G AARSD1, PTGES3L-AARSD1 Synonymous SNV D270D 0 0 0 1 0 0 0.003 0 0 0 0 0 7.946 327536 chr17 4848276 4848276 C T rs149701695 RNF167 Synonymous SNV L305L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.758 327537 chr19 54652237 54652237 G A rs587594795 CNOT3 Nonsynonymous SNV G417S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.449 327538 chr3 119109769 119109769 C T rs139600783 ARHGAP31 Nonsynonymous SNV P274S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.2 327539 chr3 128200710 128200710 G A rs146814201 GATA2 Synonymous SNV N351N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.17 327540 chr3 128840321 128840321 C T rs76233276 RAB43 Synonymous SNV P4P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 327541 chr3 129023630 129023630 G A rs60527165 HMCES Nonsynonymous SNV E301K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 327542 chr3 129112584 129112584 C T rs542578983 RPL32P3 0 0 0.003 0 0 0 0 1 0 0 0 0 8.778 327543 chr3 12942845 12942845 G A rs753626236 IQSEC1 Synonymous SNV P994P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.016 327544 chr17 54981751 54981751 C T TRIM25 Synonymous SNV K264K 0 0 0 1 0 0 0.003 0 0 0 0 0 15.8 327545 chr17 60069914 60069914 G C rs746707650 MED13 Synonymous SNV P750P 0 0 0 1 0 0 0.003 0 0 0 0 0 7.39 327546 chr17 18874859 18874859 C T rs750911081 FAM83G Nonsynonymous SNV R762K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327547 chr3 14803008 14803008 G C rs200842160 C3orf20 Nonsynonymous SNV G672A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 327548 chr3 148577730 148577730 G A rs148833513 CPB1 Nonsynonymous SNV E399K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 327549 chr3 15248049 15248049 T G rs201544475 CAPN7 Nonsynonymous SNV L16R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 327550 chr3 154832880 154832880 C T rs200713056 MME Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.42 327551 chr3 157160309 157160309 A T rs16827644 PTX3 Synonymous SNV T229T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 327552 chr3 16411731 16411731 T C rs114261879 RFTN1 Synonymous SNV Q294Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.644 327553 chr3 169820408 169820408 T C rs377200828 PHC3 Nonsynonymous SNV S886G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 327554 chr7 117067470 117067470 G C rs765813685 ASZ1 Synonymous SNV G15G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.531 327555 chr7 121698892 121698892 T G PTPRZ1 Synonymous SNV P1322P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 327556 chr3 179448029 179448029 C G USP13 Nonsynonymous SNV Q381E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 327557 chr3 182740302 182740302 C T rs569721834 MCCC1 Nonsynonymous SNV S474N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.077 327558 chr7 128370054 128370054 G A rs190631164 FAM71F1 Nonsynonymous SNV G316S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 327559 chr3 184295448 184295448 C T rs778433871 EPHB3 Synonymous SNV S494S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 327560 chr17 37099965 37099965 A G rs752160331 FBXO47 Nonsynonymous SNV I273T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.5 327561 chr3 186508008 186508008 C T rs561389810 RFC4 Nonsynonymous SNV V307I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.252 327562 chr3 187088590 187088590 C G rs569487894 RTP4 Nonsynonymous SNV S57C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.38 327563 chr4 15054117 15054117 C T CPEB2 Synonymous SNV P725P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 327564 chr7 138554390 138554390 C T rs566691710 KIAA1549 Nonsynonymous SNV D1557N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 327565 chr3 190106096 190106096 A G rs752230428 CLDN16 Nonsynonymous SNV H63R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 327566 chr20 17639897 17639897 C T RRBP1 Nonsynonymous SNV G419D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.642 327567 chr17 38975120 38975137 CCGCCGCCGGAGCTGCTG - rs774112331 KRT10 S551_G556del 0.001 0 0 0 1 0 0 0 0 0 0 0 327568 chr7 140179076 140179076 C A MKRN1 Synonymous SNV A23A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 327569 chr7 141871138 141871138 G A rs180693106 MGAM2 Synonymous SNV P1083P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.728 327570 chr7 142832341 142832341 C G rs112182232 PIP Nonsynonymous SNV D50E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 327571 chr7 143029527 143029531 TGGAA - rs764936586 CLCN1 G395Cfs*33 0.001 0 0 0 1 0 0 0 0 0 0 0 327572 chr7 143095512 143095512 C A rs768392833 EPHA1 Nonsynonymous SNV V456L 0.001 0 0 0 1 0 0 0 0 0 0 0 23 327573 chr3 20212581 20212581 G A rs748755799 SGO1 Nonsynonymous SNV R207C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 327574 chr7 143573264 143573264 G A rs150457102 TCAF1 Synonymous SNV G146G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 327575 chr8 24771984 24771984 G T rs61735463 NEFM Synonymous SNV S226S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 14.52 327576 chr8 24774812 24774812 G A rs61751047 NEFM Nonsynonymous SNV V106I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 327577 chr3 25706391 25706391 G A MIR4442 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 327578 chr20 30193874 30193874 G A rs753341526 ID1 Nonsynonymous SNV D149N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 327579 chr17 48046934 48046934 C A rs748043015 DLX4 Synonymous SNV G34G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.74 327580 chr4 24839022 24839022 T C rs768645366 CCDC149 Nonsynonymous SNV I164V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.84 327581 chr7 27134315 27134315 T C rs141900601 HOXA1 Nonsynonymous SNV N251S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 327582 chr8 94809607 94809607 C T rs370004832 TMEM67 Nonsynonymous SNV T670I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.3 327583 chr20 60885548 60885548 C G LAMA5 Synonymous SNV G3509G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.38 327584 chr4 499509 499509 A T rs996271243 PIGG Synonymous SNV A121A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 327585 chr9 103310025 103310029 GGTGT - MSANTD3-TMEFF1, TMEFF1 C262Yfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 327586 chr18 48513030 48513030 A G rs766285345 ELAC1 Nonsynonymous SNV I223V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.728 327587 chr3 57131636 57131636 A G IL17RD Nonsynonymous SNV S699P 0 0 0.003 0 0 0 0 1 0 0 0 0 28 327588 chr3 58817449 58817449 C T rs778680319 C3orf67 Nonsynonymous SNV S658N 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 327589 chr3 64666977 64666977 T A rs149188165 ADAMTS9 Nonsynonymous SNV E193D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.453 327590 chr3 65422887 65422887 C G rs544009720 MAGI1 Nonsynonymous SNV V436L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 327591 chr3 81630370 81630370 G A rs563241317 GBE1 Synonymous SNV L464L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.373 327592 chr18 59166591 59166591 G A rs528882646 CDH20 Nonsynonymous SNV R140Q 0 0 0 1 0 0 0.003 0 0 0 0 0 22 327593 chr21 33785211 33785211 A G EVA1C Nonsynonymous SNV Q17R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327594 chr4 79173679 79173679 G A rs775952053 FRAS1 Nonsynonymous SNV C148Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 327595 chr7 6591041 6591041 C T rs4724818 GRID2IP Synonymous SNV T9T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 327596 chr4 119631175 119631175 G A rs201977372 METTL14 Synonymous SNV T363T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 327597 chr4 119660360 119660360 G T rs370217528 SEC24D Nonsynonymous SNV A775D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 327598 chr21 39755778 39755778 G A rs762465730 ERG Synonymous SNV C237C 0.001 0 0 0 1 0 0 0 0 0 0 0 8.174 327599 chr4 120528256 120528256 C T rs200305402 PDE5A Nonsynonymous SNV D117N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 327600 chr4 1210363 1210363 C A rs527828100 CTBP1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 2.194 327601 chr7 82544523 82544523 A G rs202008590 PCLO Nonsynonymous SNV L4260P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 17.28 327602 chr21 43531611 43531611 G A UMODL1 Nonsynonymous SNV G688E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.85 327603 chr9 129854069 129854069 G A rs148016964 ANGPTL2 Nonsynonymous SNV P388S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.84 327604 chr4 129960247 129960247 T C SCLT1 Nonsynonymous SNV Q80R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 327605 chr4 1349006 1349006 C T rs146589878 UVSSA Synonymous SNV I383I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.15 327606 chr7 87005033 87005033 T C rs370017921 CROT Nonsynonymous SNV W248R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 327607 chr4 144119017 144119017 T C rs147219891 USP38 Synonymous SNV A330A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.669 327608 chr17 79220139 79220139 G A rs369715405 SLC38A10 Synonymous SNV P859P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.541 327609 chr4 153895839 153895839 C T rs142586053 FHDC1 Nonsynonymous SNV R466W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 327610 chr7 94248176 94248176 C T rs746585235 SGCE Nonsynonymous SNV A145T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 25.9 327611 chr19 3907815 3907815 G A rs200021943 ATCAY Nonsynonymous SNV A148T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.6 327612 chr19 3977988 3977988 C T rs373062093 EEF2 Synonymous SNV A632A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.64 327613 chr19 4037790 4037792 GAG - rs760004144 PIAS4 E487del 0 0 0.003 1 0 0 0.003 1 0 0 0 0 327614 chr9 133960948 133960948 G A rs377618961 LAMC3 Synonymous SNV A1356A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 10.27 327615 chr8 101153759 101153759 A G rs752825307 FBXO43 Synonymous SNV D241D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 327616 chr4 177138035 177138035 G A rs147176270 ASB5 Nonsynonymous SNV L266F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 327617 chr8 10465815 10465815 G A rs747180512 RP1L1 Synonymous SNV D1931D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.5 327618 chr19 4817824 4817824 C G rs747441149 TICAM1 Nonsynonymous SNV S189T 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.1 327619 chr4 183676354 183676354 G A rs543733302 TENM3 Nonsynonymous SNV G1612S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 327620 chr9 138589463 138589463 G A rs146595410 SOHLH1 Nonsynonymous SNV S119F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327621 chr19 6433699 6433699 G A rs747624844 SLC25A41 Synonymous SNV G2G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.396 327622 chr8 1208855 1208855 G A rs556778345 DLGAP2 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 327623 chr18 19756920 19756920 G A GATA6 Synonymous SNV L380L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.919 327624 chr4 25819863 25819863 C T rs775850879 SEL1L3 Synonymous SNV R452R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.957 327625 chr8 13356861 13356861 G A rs762474592 DLC1 Synonymous SNV P240P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 327626 chr18 33573226 33573226 C T RPRD1A Nonsynonymous SNV R276H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 327627 chr5 140289 140289 C T rs957839344 PLEKHG4B Nonsynonymous SNV P312L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.563 327628 chr18 47431107 47431107 G A rs569933953 MYO5B Nonsynonymous SNV R836C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.8 327629 chr22 37906314 37906314 - CTCCTTCTCCTT CARD10 E273_P274insKEKE 0.001 0 0 0 1 0 0 0 0 0 0 0 327630 chr8 144997838 144997838 G A rs782738721 PLEC Nonsynonymous SNV R2073W 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 327631 chr4 76440696 76440696 T G rs542042267 THAP6 Nonsynonymous SNV S12A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 327632 chr9 77377251 77377251 T C rs375576174 TRPM6 Nonsynonymous SNV M1441V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 327633 chr5 160061566 160061566 G A rs200231138 ATP10B Synonymous SNV L364L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 327634 chr19 590366 590366 G T rs560359968 HCN2 Nonsynonymous SNV A141S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.179 327635 chr19 590367 590367 C T rs200057212 HCN2 Nonsynonymous SNV A141V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.17 327636 chr4 81529524 81529524 A G rs749753521 CFAP299 Nonsynonymous SNV K124R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 327637 chr19 12461691 12461691 C T rs61735342 ZNF442 Synonymous SNV P167P 0 0 0 1 0 0 0.003 0 0 0 0 0 14.49 327638 chr9 79891127 79891127 A G rs145346590 VPS13A Synonymous SNV P938P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 6.345 327639 chr19 13941130 13941130 T G ZSWIM4 Nonsynonymous SNV S746A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 327640 chr4 8616093 8616093 C T rs574133810 CPZ Synonymous SNV S446S 0 0 0.007 0 0 0 0 2 0 0 0 0 16.65 327641 chr4 88056732 88056732 A G AFF1 Nonsynonymous SNV E810G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 327642 chr4 88243926 88243926 A C rs571845258 HSD17B13 Nonsynonymous SNV V23G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 327643 chr4 88537090 88537090 T C rs376726974 DSPP Synonymous SNV N1092N 0 0 0.007 0 0 0 0 2 0 0 1 0 0.012 327644 chr19 1112480 1112480 G A SBNO2 Synonymous SNV R755R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 327645 chr4 95155147 95155147 C T SMARCAD1 Synonymous SNV T137T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.266 327646 chr8 25297129 25297129 C T rs371172647 KCTD9 Synonymous SNV K121K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.1 327647 chr19 2253725 2253725 - GGC rs949777380 JSRP1 P111_A112insP 0.001 0 0 0 1 0 0 0 0 0 0 0 327648 chr5 109220371 109220371 C T rs17162400 LINC01848 0 0 0.003 0 0 0 0 1 0 0 0 0 4.327 327649 chr5 112200323 112200323 T G SRP19 Nonsynonymous SNV N41K 0 0 0.003 0 0 0 0 1 0 0 0 0 25 327650 chr5 112200329 112200329 G A SRP19 Nonsynonymous SNV M43I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 327651 chr5 129039960 129039960 G A rs776454235 ADAMTS19 Nonsynonymous SNV R1063H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 327652 chr5 33549453 33549453 G A ADAMTS12 Synonymous SNV R1302R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.28 327653 chrX 152585921 152585921 T C PNMA6F Nonsynonymous SNV Q71R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.312 327654 chr5 41033216 41033216 C T rs747589741 MROH2B Nonsynonymous SNV G763D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327655 chr19 19766416 19766416 C T rs745956858 ATP13A1 Synonymous SNV A439A 0.001 0 0 1 1 0 0.003 0 0 0 0 0 16.21 327656 chr19 21606175 21606175 C T rs562005035 ZNF493 Synonymous SNV Y110Y 0.001 0 0 1 1 0 0.003 0 0 0 0 0 1.75 327657 chr5 140306912 140306912 C T rs781793681 PCDHAC1 Synonymous SNV L145L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.76 327658 chr8 8176283 8176283 C A rs200355456 PRAG1 Nonsynonymous SNV R1201L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.1 327659 chr8 8176770 8176770 C T rs28533138 PRAG1 Nonsynonymous SNV V1039M 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 327660 chr8 8239105 8239105 C T rs369974902 PRAG1 Synonymous SNV A51A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 327661 chr19 33247047 33247047 G C TDRD12 Nonsynonymous SNV W244C 0 0 0 1 0 0 0.003 0 0 0 0 0 27.6 327662 chr5 140731832 140731832 C T rs760271009 PCDHGB1 Nonsynonymous SNV P669S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 327663 chr5 56231268 56231268 A G MIER3 Synonymous SNV D199D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.405 327664 chrX 153041881 153041881 C G rs782437322 PLXNB3 Nonsynonymous SNV H1600Q 0.002 0 0 0 2 0 0 0 1 0 0 0 2.904 327665 chrX 153208423 153208423 C T RENBP Nonsynonymous SNV V191M 0.002 0 0 0 2 0 0 0 1 0 0 0 25.7 327666 chrX 153706654 153706654 C T LAGE3 Synonymous SNV K95K 0.002 0 0 0 2 0 0 0 1 0 0 0 9.997 327667 chrX 66766357 66766386 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC - AR G464_G473del 0.001 0 0 0 1 0 0 0 0 0 0 0 327668 chr19 16280515 16280515 C A CIB3 Nonsynonymous SNV V42L 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 327669 chr19 36352909 36352909 C A KIRREL2 Nonsynonymous SNV A448D 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 327670 chr5 1477533 1477533 C G rs911992515 LPCAT1 Synonymous SNV R295R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.68 327671 chr19 36509881 36509881 G T rs576007829 CLIP3 Nonsynonymous SNV P368T 0 0 0 1 0 0 0.003 0 0 0 0 0 19.5 327672 chr19 36612471 36612471 A C rs990286163 TBCB Nonsynonymous SNV Y133S 0 0 0 1 0 0 0.003 0 0 0 0 0 24.2 327673 chr19 36643296 36643296 C A rs144805768 COX7A1 Nonsynonymous SNV R5L 0 0 0 1 0 0 0.003 0 0 0 0 0 21.4 327674 chr5 149459758 149459758 C T rs1029057991 CSF1R Nonsynonymous SNV R150H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.514 327675 chr10 100013494 100013494 G A rs761327016 LOXL4 Nonsynonymous SNV R551C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 327676 chr9 113219579 113219579 T G SVEP1 Nonsynonymous SNV Q1210H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 327677 chr5 150228215 150228215 G A rs764743745 IRGM Nonsynonymous SNV R177Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.754 327678 chr5 150413218 150413218 A G rs537463860 TNIP1 Nonsynonymous SNV M524T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 327679 chr9 114449098 114449098 T C rs564189114 SHOC1 Synonymous SNV E1390E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 327680 chr5 150943061 150943061 G T rs138913417 FAT2 Nonsynonymous SNV N1133K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 327681 chr5 156347495 156347495 A G rs554640687 TIMD4 Synonymous SNV Y316Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 327682 chr5 156890239 156890239 G A rs370726117 NIPAL4 Nonsynonymous SNV G121S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 327683 chr5 160047724 160047724 G T rs200677773 ATP10B Nonsynonymous SNV S682R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 327684 chr10 114925697 114925697 A G TCF7L2 Nonsynonymous SNV Q569R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 327685 chr5 169309989 169309989 G T rs375307639 INSYN2B Nonsynonymous SNV S305Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 327686 chr5 176963461 176963461 G A rs747801721 FAM193B Nonsynonymous SNV P325L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 327687 chr9 130269550 130269550 G A rs374077953 NIBAN2 Synonymous SNV S592S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.641 327688 chr9 130495689 130495689 G A rs376074923 TOR2A Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 327689 chr5 32074360 32074360 G T rs760055452 PDZD2 Nonsynonymous SNV V1050L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.199 327690 chr9 133769023 133769023 A T rs12340616 QRFP Nonsynonymous SNV L68H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 23.7 327691 chr5 40853979 40853979 A G rs766077676 CARD6 Nonsynonymous SNV I849V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 327692 chr19 46299177 46299177 C T rs140872788 RSPH6A Nonsynonymous SNV E702K 0 0 0 1 0 0 0.003 0 0 0 0 0 22.5 327693 chr10 19856471 19856471 G C rs893223989 MALRD1 Nonsynonymous SNV W1840S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 327694 chr19 18180407 18180407 G T rs373076771 IL12RB1 Nonsynonymous SNV L380I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 1.361 327695 chr9 135690062 135690062 G A AK8 Synonymous SNV G269G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.732 327696 chr6 135811852 135811852 C T rs760220297 AHI1 Nonsynonymous SNV R15H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 19.42 327697 chr10 17742234 17742234 G A rs781886445 STAM Nonsynonymous SNV V193I 0.001 0 0 0 1 0 0 0 0 0 0 0 18.57 327698 chr19 18995050 18995050 G A rs913223329 CERS1 Nonsynonymous SNV R48W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.88 327699 chr19 49206961 49206961 C T rs564523135 FUT2 Nonsynonymous SNV R250W 0 0 0 1 0 0 0.003 0 0 0 0 0 25.2 327700 chr19 49261228 49261228 T A FGF21 Synonymous SNV L127L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.452 327701 chr9 139371778 139371778 G T SEC16A Nonsynonymous SNV T97K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.75 327702 chr9 139728311 139728385 CACTGCTGGGGAGGCCCCTCCTTCCTGCAGAGCCGTCCCCTCATCACTGGGTTGATTACTCCTTAGAGAGCTCCC - RABL6 G285_L309del 0.001 0 0 0 1 0 0 0 0 0 0 0 327703 chr9 139836916 139836916 A G FBXW5 Synonymous SNV D226D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.565 327704 chr9 139946726 139946726 G A rs139779693 ENTPD2 Synonymous SNV N64N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.13 327705 chr10 50375976 50375976 G A rs201588668 TMEM273 Synonymous SNV G25G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.526 327706 chr9 14639927 14639927 T C rs146478966 ZDHHC21 Synonymous SNV G99G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.224 327707 chr9 16436417 16436417 C G BNC2 Nonsynonymous SNV S550T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 327708 chr19 51527476 51527476 G A rs769800407 KLK11 Synonymous SNV P96P 0 0.003 0 1 0 1 0.003 0 0 0 0 0 11.21 327709 chr10 61846627 61846627 C G ANK3 Nonsynonymous SNV D320H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 327710 chr10 61926397 61926397 C T ANK3 Nonsynonymous SNV A839T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 327711 chr19 36612476 36612476 G A rs780904290 TBCB Nonsynonymous SNV E135K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 327712 chr5 98106298 98106298 C T rs201455853 RGMB-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.8 327713 chr5 98109804 98109804 C T rs908370306 RGMB Synonymous SNV A10A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 327714 chr9 34306403 34306403 C T rs547261080 KIF24 Synonymous SNV E220E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 327715 chr6 102250229 102250229 C T rs771193417 GRIK2 Synonymous SNV G373G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 327716 chr9 35547909 35547909 C T rs369004914 RUSC2 Nonsynonymous SNV S464F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.31 327717 chr6 17817397 17817397 C T rs750111616 KIF13A Synonymous SNV E618E 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 327718 chr9 35906586 35906586 - CCACCACCACCACCACCCCCGCCACACCCCTCACCACCT HRCT1 H105_P106insHPRHTPHHLHHHH 0.001 0 0 0 1 0 0 0 0 0 0 0 327719 chr6 110567458 110567458 G A rs367941007 METTL24 Synonymous SNV D67D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.982 327720 chr6 12292628 12292628 C T rs149399492 EDN1 Nonsynonymous SNV T39I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 327721 chr19 55591588 55591588 G A EPS8L1 Nonsynonymous SNV C124Y 0 0.003 0 1 0 1 0.003 0 0 0 0 0 28.7 327722 chr19 42558547 42558547 G A rs150196835 GRIK5 Synonymous SNV I327I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 327723 chr19 42585357 42585357 G A rs776539367 ZNF574 Nonsynonymous SNV V957I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.927 327724 chr9 98220313 98220313 G A rs149398794 PTCH1 Synonymous SNV P998P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.578 327725 chr19 52497238 52497238 C T ZNF615 Nonsynonymous SNV R369Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.8 327726 chr6 157744521 157744521 G T rs782418020 TMEM242 Nonsynonymous SNV A4E 0 0 0.003 0 0 0 0 1 0 0 0 0 16 327727 chr6 158923829 158923829 C T TULP4 Nonsynonymous SNV P1045L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 327728 chr10 99133402 99133402 G A rs531893633 RRP12 Synonymous SNV S552S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 327729 chr11 100912791 100912791 A G PGR Nonsynonymous SNV M578T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 327730 chr19 57931628 57931628 C T rs965969353 ZNF17 Synonymous SNV S256S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.11 327731 chr6 160237063 160237063 A G PNLDC1 Nonsynonymous SNV Y353C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 327732 chr19 58773154 58773154 C T rs769419548 ZNF544 Synonymous SNV D366D 0 0 0 1 0 0 0.003 0 0 0 0 0 14.01 327733 chr19 59059460 59059460 C A TRIM28 Synonymous SNV I338I 0 0 0 1 0 0 0.003 0 0 0 0 0 19.61 327734 chr6 168927054 168927054 G A rs148001174 SMOC2 Synonymous SNV K95K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.39 327735 chr6 49754486 49754486 T C rs746121075 PGK2 Nonsynonymous SNV K139E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 327736 chr20 1459244 1459244 C A rs200910240 SIRPB2 Nonsynonymous SNV D154Y 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 327737 chr19 49705258 49705258 C T rs149337483 TRPM4 Synonymous SNV P643P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.858 327738 chrX 152807887 152807887 A G ATP2B3 Synonymous SNV K257K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.018 327739 chrX 153049212 153049212 C T SRPK3 Synonymous SNV T259T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.602 327740 chr6 24848265 24848265 G C rs371651657 RIPOR2 Nonsynonymous SNV D384E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.566 327741 chr6 2623942 2623942 G A rs77378391 LINC01600 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 327742 chr19 50905509 50905509 A G rs750753334 POLD1 Nonsynonymous SNV T213A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 327743 chr11 1083799 1083799 G A rs377195624 MUC2 Synonymous SNV S777S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.25 327744 chrX 37850340 37850340 A G rs202191406 H2AP Nonsynonymous SNV Q83R 0.001 0.003 0 0 1 1 0 0 0 0 0 0 21.6 327745 chr6 76386902 76386902 T C rs757601021 SENP6 Nonsynonymous SNV V586A 0.001 0 0 0 1 0 0 0 0 0 0 0 22 327746 chr20 13747446 13747446 C T rs890124706 ESF1 Synonymous SNV E548E 0 0 0 1 0 0 0.003 0 0 0 0 0 13.66 327747 chr11 117244534 117244534 C T rs150314805 CEP164 Nonsynonymous SNV S407F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 32 327748 chr6 36181911 36181911 G A rs138993047 BRPF3 Nonsynonymous SNV D913N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 327749 chrX 71521716 71521716 T C rs148931900 CITED1 Nonsynonymous SNV I147V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.036 327750 chrX 75393445 75393445 C T PBDC1 Nonsynonymous SNV A19V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 327751 chr6 39047423 39047423 G A rs61733062 GLP1R Nonsynonymous SNV R376Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 327752 chr6 41035124 41035124 C T rs529411165 OARD1 Nonsynonymous SNV E137K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 327753 chr20 30000434 30000434 C T rs373697579 DEFB121 Nonsynonymous SNV V5I 0 0 0 1 0 0 0.003 0 0 0 0 0 10.41 327754 chr1 1244599 1244599 C G rs557118889 PUSL1 Nonsynonymous SNV P90R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 327755 chr1 1328805 1328805 C T rs775369641 CCNL2 Synonymous SNV E210E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 327756 chr6 43412975 43412975 C T rs144273435 ABCC10 Nonsynonymous SNV R957W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 327757 chr6 44250061 44250061 T G rs772091607 TCTE1 Nonsynonymous SNV N361T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 327758 chr1 1688681 1688681 T C NADK Nonsynonymous SNV K79R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 327759 chr6 46659671 46659671 C G rs145681001 TDRD6 Nonsynonymous SNV T1269R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 327760 chr1 3102849 3102849 G T PRDM16 Synonymous SNV S66S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.408 327761 chr1 3407113 3407113 G A MEGF6 Synonymous SNV S1535S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.378 327762 chr6 51944749 51944749 T A rs539738170 PKHD1 Synonymous SNV G113G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.505 327763 chr11 125659322 125659322 C T rs760066913 PATE3 Nonsynonymous SNV R31W 0 0.003 0 0 0 1 0 0 0 0 0 0 13.17 327764 chr6 56382335 56382335 C A rs373876039 DST Nonsynonymous SNV E3448D 0 0 0.003 0 0 0 0 1 0 0 0 0 31 327765 chr11 128772560 128772560 C T rs143973342 C11orf45 Synonymous SNV A110A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.99 327766 chr19 57065107 57065107 C T ZFP28 Nonsynonymous SNV A318V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.7 327767 chr6 7727753 7727753 G A rs531373129 BMP6 Nonsynonymous SNV A189T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.458 327768 chr20 52773755 52773755 G A rs766440228 CYP24A1 Nonsynonymous SNV P437L 0 0 0 1 0 0 0.003 0 0 0 0 0 32 327769 chr19 59061199 59061199 T C rs373409436 TRIM28 Nonsynonymous SNV V693A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 327770 chr20 368854 368854 G A rs61746925 TRIB3 Nonsynonymous SNV R67H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.27 327771 chr1 16259208 16259208 C T rs144493499 SPEN Nonsynonymous SNV P2158L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 327772 chr1 17420088 17420088 C T rs765913066 PADI2 Nonsynonymous SNV R168H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.76 327773 chr11 30032431 30032431 T C rs780643988 KCNA4 Nonsynonymous SNV S599G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.609 327774 chr11 2920765 2920765 C T SLC22A18AS Nonsynonymous SNV R56H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.681 327775 chr10 26315414 26315414 G A rs139818474 MYO3A Synonymous SNV T302T 0.002 0 0 0 2 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.24 327776 chr21 31988798 31988798 G T rs764392696 KRTAP20-1 Nonsynonymous SNV G9C 0 0 0 1 0 0 0.003 0 0 0 0 0 13.61 327777 chr21 32253366 32253366 G A rs369918804 KRTAP11-1 Stop gain R160X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 327778 chr20 51871290 51871290 G A rs749447914 TSHZ2 Synonymous SNV S428S 0 0 0 1 0 0 0.003 0 0 0 0 0 3.747 327779 chr7 103824436 103824436 T C rs558148117 ORC5 Nonsynonymous SNV H260R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 327780 chr7 106509082 106509082 G A rs144565710 PIK3CG Nonsynonymous SNV R359H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 327781 chr7 106520068 106520068 T G rs771090910 PIK3CG Nonsynonymous SNV F832L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 327782 chr7 107399554 107399554 G A rs763187733 CBLL1 Synonymous SNV P468P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.038 327783 chr21 35467751 35467751 A G SLC5A3 Nonsynonymous SNV N85S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 327784 chr7 107790461 107790461 C A rs755040240 NRCAM Nonsynonymous SNV G1133V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 327785 chr7 110526722 110526722 T C rs200836792 IMMP2L Nonsynonymous SNV K112R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.46 327786 chr21 38600581 38600581 T C rs148281641 VPS26C Nonsynonymous SNV S76G 0 0.003 0 1 0 1 0.003 0 0 0 0 0 13.43 327787 chr7 116778492 116778492 G A ST7 Nonsynonymous SNV R224Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 327788 chr7 123222114 123222114 C G rs991185669 NDUFA5 Nonsynonymous SNV R36T 0 0 0.007 0 0 0 0 2 0 0 1 0 5.775 327789 chr11 47612005 47612005 G C C1QTNF4 Nonsynonymous SNV Q120E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 327790 chr11 47612006 47612006 G T C1QTNF4 Nonsynonymous SNV S119R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 327791 chr21 42821216 42821216 G A rs780252858 MX1 Nonsynonymous SNV V476M 0 0 0 1 0 0 0.003 0 0 0 0 0 23.7 327792 chr7 12620727 12620727 G A rs1033709039 SCIN Nonsynonymous SNV D133N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 327793 chr7 127254996 127254996 C T PAX4 Nonsynonymous SNV A100T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 327794 chr7 128034957 128034957 C T rs572975271 IMPDH1 Synonymous SNV Q402Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.43 327795 chr1 32843632 32843632 G A rs371990220 BSDC1 Synonymous SNV D110D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 327796 chr20 36979266 36979266 G A rs992557489 LBP Nonsynonymous SNV G98S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 327797 chr1 33429731 33429731 G C rs747655930 RNF19B Nonsynonymous SNV H186D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.07 327798 chr7 131912322 131912322 G A rs112481937 PLXNA4 Synonymous SNV G590G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 327799 chr1 36553349 36553349 C T rs199939002 TEKT2 Synonymous SNV D340D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.68 327800 chr20 43727274 43727274 G C rs368678884 KCNS1 Nonsynonymous SNV R47G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 327801 chr7 140069426 140069426 G T rs113110951 SLC37A3 Synonymous SNV G85G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.073 327802 chr1 40770190 40770190 G A rs200428596 COL9A2 Synonymous SNV G391G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 327803 chr11 5068261 5068261 C T rs182304465 OR52J3 Nonsynonymous SNV P169L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 327804 chr7 142625243 142625243 G T rs375090916 TRPV5 Synonymous SNV I283I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.589 327805 chr7 148801611 148801611 A C rs184779946 ZNF425 Nonsynonymous SNV F451C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 327806 chr1 45974801 45974806 CCCGCC - rs796064513 MMACHC A199_P200del 0.001 0 0 0 1 0 0 0 0 0 0 0 327807 chr22 19207480 19207480 G A rs781816059 CLTCL1 Nonsynonymous SNV R945C 0 0 0 1 0 0 0.003 0 0 0 0 0 32 327808 chr20 57571775 57571775 G A CTSZ Synonymous SNV N240N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.692 327809 chr1 47504392 47504392 C T rs751651489 CYP4X1 Nonsynonymous SNV P278L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.69 327810 chr7 150840440 150840440 A T rs145553128 AGAP3 Nonsynonymous SNV E431D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 327811 chr7 33380569 33380569 A G rs781174771 BBS9 Nonsynonymous SNV N298S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.42 327812 chr10 75289589 75289589 G A rs781024227 USP54 Nonsynonymous SNV R580C 0.002 0.003 0 0 2 1 0 0 0 0 0 0 18.61 327813 chr7 155255376 155255376 C T rs149481945 EN2 Synonymous SNV S332S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 327814 chr20 61444540 61444540 A C rs61729550 OGFR Nonsynonymous SNV S525R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.25 327815 chr7 155556647 155556655 CCCCACGCA - rs754265858 RBM33 P1041_A1043del 0 0 0.003 0 0 0 0 1 0 0 0 0 327816 chr1 54359979 54359979 G C DIO1 Nonsynonymous SNV L32F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327817 chr7 43918639 43918639 G A rs376364433 URGCP Synonymous SNV D132D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.67 327818 chr7 1786401 1786401 - CCGCCT ELFN1 P726_H727insPP 0 0 0.007 0 0 0 0 2 0 0 1 0 327819 chr7 21639509 21639509 G A rs766050153 DNAH11 Nonsynonymous SNV M924I 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 20.3 327820 chr7 28527793 28527793 A T rs756283622 CREB5 Nonsynonymous SNV I2F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 327821 chr1 77672342 77672342 C A PIGK Nonsynonymous SNV R74S 0.001 0 0 0 1 0 0 0 0 0 0 0 28 327822 chr11 5688935 5688935 C - rs758128379 TRIM5 D251Mfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 327823 chr21 35773241 35773241 C T rs751023574 FAM243A, FAM243B Nonsynonymous SNV V44I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.062 327824 chr7 48314760 48314760 C T rs371671347 ABCA13 Nonsynonymous SNV R1833W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 327825 chr11 59189909 59189909 T C rs765919373 OR5A2 Nonsynonymous SNV Y173C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.54 327826 chr7 48431694 48431694 C T rs147700914 ABCA13 Nonsynonymous SNV A3944V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 327827 chr7 48528918 48528918 C T rs200484070 ABCA13 Nonsynonymous SNV P4423L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 327828 chr21 45750609 45750609 C T rs764554346 CFAP410 Nonsynonymous SNV V246M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.23 327829 chr11 61048108 61048108 G A rs138602525 VWCE Nonsynonymous SNV P438S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 327830 chr11 62364217 62364217 C T rs562594464 MTA2 Synonymous SNV P85P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.297 327831 chr7 99145876 99145876 C T FAM200A Nonsynonymous SNV R52H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.007 327832 chr22 46774589 46774589 C A rs141170114 CELSR1 Nonsynonymous SNV A2428S 0 0 0 1 0 0 0.003 0 0 0 0 0 16.48 327833 chr22 46785354 46785354 T C rs779641575 CELSR1 Nonsynonymous SNV R2130G 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 327834 chr11 63681435 63681435 G A rs779634473 RCOR2 Synonymous SNV L294L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.52 327835 chr22 19183900 19183900 G C CLTCL1 Nonsynonymous SNV H1356Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 327836 chr11 6413182 6413182 G A rs35824453 SMPD1 Nonsynonymous SNV R296Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 13.71 327837 chr11 6423941 6423941 G A rs143740206 APBB1 Synonymous SNV R153R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.49 327838 chr1 115829203 115829203 C T rs11466110 NGF Nonsynonymous SNV V72M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.7 327839 chr22 19882707 19882707 C T rs769617627 TXNRD2 Synonymous SNV A322A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.938 327840 chr22 50656439 50656439 G - rs746218503 TUBGCP6 P1759Lfs*33 0 0 0 1 0 0 0.003 0 0 0 0 0 327841 chr22 50656449 50656449 A C rs773173311 TUBGCP6 Nonsynonymous SNV W1756G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 327842 chr11 65305634 65305634 C G rs751251610 SCYL1 Nonsynonymous SNV S726C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 327843 chr1 146737698 146737698 T C rs587737412 CHD1L Nonsynonymous SNV S79P 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 327844 chr8 118165303 118165303 G A rs778716564 SLC30A8 Nonsynonymous SNV R131Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.903 327845 chr1 150485746 150485746 C T rs201884523 ECM1 Stop gain R351X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 327846 chr1 150672592 150672592 C T rs148815885 HORMAD1 Nonsynonymous SNV R360K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.991 327847 chr8 126443373 126443373 G C rs1035112785 TRIB1 Nonsynonymous SNV G77R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 327848 chrX 16189000 16189000 C T MAGEB17 Synonymous SNV Y165Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.405 327849 chr11 66360463 66360463 C A CCDC87 Nonsynonymous SNV E8D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.012 327850 chr11 67069638 67069638 A G rs748528423 ANKRD13D Synonymous SNV G551G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.477 327851 chr1 155292087 155292087 G A rs769064250 RUSC1 Nonsynonymous SNV D175N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.072 327852 chrX 53280126 53280126 C T rs372630160 IQSEC2 Synonymous SNV E544E 0 0 0 1 0 0 0.003 0 0 0 0 0 8.074 327853 chr8 143866726 143866726 C T rs200378872 LY6D Nonsynonymous SNV A100T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.99 327854 chr22 37271715 37271715 G A rs190625962 NCF4 Synonymous SNV T216T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 327855 chr8 144940378 144940378 G A rs782161800 EPPK1 Synonymous SNV V2348V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 327856 chrX 92928115 92928135 GCTGCTGCTGCTGCCGCTGCC - rs760078060 NAP1L3 G57_S63del 0 0 0 1 0 0 0.003 0 0 0 0 0 327857 chr11 74862432 74862432 A T SLCO2B1 Synonymous SNV G2G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.567 327858 chr8 145095073 145095073 C G rs781990521 SPATC1 Nonsynonymous SNV L159V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 327859 chr22 41545043 41545043 C T rs754582079 EP300 Nonsynonymous SNV P722L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327860 chr1 161139462 161139462 G T PPOX Nonsynonymous SNV D241Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 327861 chrX 129055425 129055425 G A UTP14A Nonsynonymous SNV V352I 0 0 0 1 0 0 0.003 0 0 0 0 0 3.791 327862 chr11 824528 824528 C A rs373114735 PNPLA2 Nonsynonymous SNV P394Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 15.74 327863 chr11 824624 824624 A G rs140634178 PNPLA2 Nonsynonymous SNV N426S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.005 327864 chr8 18729480 18729481 AT - rs758394922 PSD3 H265Rfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 327865 chr8 21937751 21937751 G C rs561706178 DMTN Nonsynonymous SNV S259T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 327866 chr8 21985226 21985226 G A rs79783229 HR Synonymous SNV A243A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.336 327867 chr1 167663491 167663491 C G rs527297480 RCSD1 Synonymous SNV V88V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 327868 chr8 22458693 22458693 G A rs534172908 C8orf58 Synonymous SNV K113K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.539 327869 chr11 9166614 9166614 T C rs765011484 DENND5A Nonsynonymous SNV N993S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.4 327870 chr8 27509056 27509056 G C SCARA3 Nonsynonymous SNV Q46H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 327871 chr12 104123899 104123899 G A rs559343507 STAB2 Synonymous SNV T1696T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.485 327872 chr8 52284457 52284457 G T PXDNL Synonymous SNV R1293R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.163 327873 chr8 53084946 53084946 C T ST18 Nonsynonymous SNV A159T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 327874 chr8 67577806 67577806 T C rs111918384 VCPIP1 Nonsynonymous SNV D463G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 327875 chr10 116064632 116064632 T A AFAP1L2 Nonsynonymous SNV D377V 0.002 0 0 0 2 0 0 0 0 0 0 0 27 327876 chr8 77895730 77895730 C G PEX2 Nonsynonymous SNV G229R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 327877 chr8 81599656 81599656 C A rs377349412 ZNF704 Synonymous SNV V121V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 327878 chr8 8749068 8749068 C T rs769006332 MFHAS1 Nonsynonymous SNV V501M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 327879 chr9 100043849 100043849 G A rs3747512 SUGT1P4-STRA6LP, SUGT1P4-STRA6LP-CCDC180 0 0 0.003 0 0 0 0 1 0 0 0 0 0.532 327880 chr10 128973783 128973783 G A rs748875288 INSYN2A Nonsynonymous SNV H293Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.26 327881 chr9 104075211 104075211 C T rs562120791 PLPPR1 Synonymous SNV D256D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 327882 chr9 112705060 112705060 T A rs76261117 PALM2-AKAP2 Nonsynonymous SNV H165Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.161 327883 chr9 116356290 116356290 T G rs906827464 RGS3 Nonsynonymous SNV S31A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 327884 chr9 116835208 116835208 G C rs756372752 AMBP Nonsynonymous SNV R185G 0.001 0 0 0 1 0 0 0 0 0 0 0 26 327885 chr9 117139110 117139110 C T rs145721525 AKNA Nonsynonymous SNV R207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.277 327886 chr10 13702444 13702444 T C FRMD4A Synonymous SNV G281G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.442 327887 chr10 16919024 16919024 G T CUBN Nonsynonymous SNV T2993N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.728 327888 chr1 216495246 216495246 C T rs146805130 USH2A Synonymous SNV E541E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.93 327889 chr10 33137549 33137549 T A rs762016233 CCDC7 Nonsynonymous SNV D1266E 0.001 0 0 0 1 0 0 0 0 0 0 0 23 327890 chr1 228447305 228447305 A G OBSCN Synonymous SNV T1655T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 327891 chr1 12175735 12175735 C T rs201661836 TNFRSF8 Nonsynonymous SNV R188C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 327892 chr1 12378211 12378211 C T VPS13D Nonsynonymous SNV H2411Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 327893 chr1 231114915 231114915 A T rs143532693 ARV1 Nonsynonymous SNV T22S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.014 327894 chr10 532466 532466 G A rs201092214 DIP2C Synonymous SNV D30D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.924 327895 chr9 135202595 135202595 G A rs756080695 SETX Nonsynonymous SNV P1464S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.373 327896 chr1 235937290 235937290 G T rs142093128 LYST Nonsynonymous SNV T1879N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 327897 chr1 236189373 236189373 G C NID1 Nonsynonymous SNV R603G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.78 327898 chr1 240964793 240964793 C T rs141557672 RGS7 Nonsynonymous SNV D459N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 327899 chr1 247473056 247473056 G A rs112850226 ZNF496 Synonymous SNV R279R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 327900 chr1 247607366 247607366 G A NLRP3 Nonsynonymous SNV G807D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.88 327901 chr1 26646688 26646688 C T rs770977151 CD52 Synonymous SNV N27N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 327902 chr9 22447254 22447259 GCCGCT - rs778251211 DMRTA1 A66_A67del 0.001 0 0 0 1 0 0 0 0 0 0 0 327903 chr9 35736496 35736496 G A rs537723746 CREB3 Nonsynonymous SNV G297S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 327904 chr9 32493819 32493819 G C rs41272911 DDX58 Synonymous SNV T121T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.824 327905 chr2 5833442 5833442 G A rs564494780 SOX11 Nonsynonymous SNV D197N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 327906 chr9 5457298 5457298 A G rs573705392 CD274 Nonsynonymous SNV Q91R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 327907 chr9 35740052 35740052 C T rs200048828 GBA2 Nonsynonymous SNV R451Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.859 327908 chr9 6250532 6250532 C A rs375298218 IL33 Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.21 327909 chr9 73028214 73028214 A G rs143797951 KLF9 Synonymous SNV A22A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.204 327910 chr9 73235180 73235180 A G rs367974145 TRPM3 Synonymous SNV P625P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.996 327911 chr9 4656082 4656082 T C SPATA6L Nonsynonymous SNV E62G 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 327912 chr9 79635617 79635617 G A rs374433710 FOXB2 Synonymous SNV K349K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 327913 chr1 45169790 45169790 C T rs376849034 ARMH1 Synonymous SNV I223I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.03 327914 chr9 91606787 91606787 G T rs372219495 C9orf47 Stop gain G165X 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 327915 chr9 94841727 94841727 G A rs181424155 SPTLC1 Nonsynonymous SNV P17L 0 0 0.007 0 0 0 0 2 0 0 1 0 1.314 327916 chr12 7463244 7463244 G A rs369271381 ACSM4 Synonymous SNV A174A 0 0.003 0 0 0 1 0 0 0 0 0 0 7.912 327917 chr9 96320879 96320879 A G FAM120A Synonymous SNV G894G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 327918 chr9 99250424 99250424 T C rs574821378 HABP4 Synonymous SNV N351N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.679 327919 chr9 99521123 99521123 T C rs16911522 ZNF510 Synonymous SNV K601K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.802 327920 chrM 7445 7445 G A MIR12136 0 0 0.007 0 0 0 0 2 0 0 1 0 327921 chr9 98244314 98244314 T C PTCH1 Synonymous SNV E221E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 327922 chrX 105970425 105970425 C T rs143055519 RNF128 Synonymous SNV N94N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.52 327923 chrX 107868947 107868947 A G rs151077921 COL4A5 Nonsynonymous SNV N1010S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.3 327924 chrX 114468293 114468293 C T rs782318466 LRCH2 Synonymous SNV P104P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 327925 chrX 119064113 119064113 C T rs149796824 NKAP Synonymous SNV L313L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 327926 chrX 119077448 119077448 G A rs753554646 NKAP Nonsynonymous SNV R41C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 327927 chrX 133549078 133549078 A C rs754317008 PHF6 Synonymous SNV T254T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.189 327928 chr1 59248085 59248085 G C rs377289876 JUN Nonsynonymous SNV P220A 0.001 0 0 0 1 0 0 0 0 0 0 0 not provided 14.93 327929 chr2 33525618 33525618 G A rs139837372 LTBP1 Synonymous SNV S786S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 327930 chrX 150817170 150817170 C T rs146310228 PASD1 Nonsynonymous SNV S238L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 327931 chrX 153216828 153216828 C T rs376294666 HCFC1 Synonymous SNV L1830L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.56 327932 chrX 153763391 153763391 C G rs370918918 G6PD Nonsynonymous SNV M189I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.24 327933 chr1 74930353 74930353 C T FPGT-TNNI3K Nonsynonymous SNV S833F 0.001 0 0 0 1 0 0 0 0 0 0 0 1.985 327934 chrX 154158216 154158216 G A F8 Synonymous SNV H1283H 0.002 0 0 0 2 0 0 0 1 0 0 0 0.006 327935 chrX 17745283 17745283 A G rs751373846 NHS Synonymous SNV A821A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.054 327936 chrX 17818903 17818903 C T rs774465625 RAI2 Nonsynonymous SNV E410K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.226 327937 chrX 18690182 18690182 G C rs571944937 RS1 Nonsynonymous SNV R3G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 18.93 327938 chrX 19410460 19410460 C A rs150236554 MAP3K15 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 327939 chrX 19478215 19478215 T C rs373284737 MAP3K15 Nonsynonymous SNV Q259R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.76 327940 chr13 103398992 103398992 - GATAACACAAAAATATTAGGTAAATATTTAAAATA CCDC168 Stop gain R1352Ifs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 327941 chr1 78383674 78383674 G A rs372532824 NEXN Synonymous SNV E19E 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.41 327942 chrX 24735711 24735711 C T rs781625739 POLA1 Nonsynonymous SNV P308L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 327943 chr11 119065680 119065680 C T rs1013517641 CCDC153 Nonsynonymous SNV R30K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 327944 chr13 113745484 113745484 C T rs765434847 MCF2L Synonymous SNV S963S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.89 327945 chrX 41390338 41390338 C T rs141158465 CASK Synonymous SNV A785A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.68 327946 chr1 92642853 92642853 T G KIAA1107 Nonsynonymous SNV N188K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 327947 chr1 94048434 94048434 G A rs200521070 BCAR3 Synonymous SNV S46S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 327948 chrX 73045745 73045745 G A rs41303699 TSIX, XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 6.209 327949 chr1 95614300 95614300 C T rs776151072 TLCD4, TLCD4-RWDD3 Synonymous SNV G66G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 327950 chr11 124189663 124189663 A G rs200914193 OR8D2 Nonsynonymous SNV M144T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 327951 chr2 72359480 72359480 G A CYP26B1 Nonsynonymous SNV P397L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 327952 chr2 74684985 74684985 T G rs138000146 INO80B Synonymous SNV A355A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.46 327953 chr10 104660688 104660688 A G rs10883798 BORCS7-ASMT 0 0 0.007 0 0 0 0 2 0 0 1 0 3.657 327954 chr2 86733052 86733052 T C CHMP3, RNF103-CHMP3 Nonsynonymous SNV S116G 0.001 0 0 0 1 0 0 0 0 0 0 0 19.1 327955 chr13 50587260 50587260 A G rs555409601 TRIM13 Nonsynonymous SNV N395S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.21 327956 chr2 101638807 101638807 C T rs755687139 TBC1D8 Synonymous SNV T884T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 327957 chr11 17428668 17428668 C T rs568576108 ABCC8 Nonsynonymous SNV A977T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 327958 chr1 152681670 152681670 G T rs371078921 LCE4A Nonsynonymous SNV C40F 0.001 0 0 0 1 0 0 0 0 0 0 0 8.119 327959 chr2 125367458 125367458 G A rs756000668 CNTNAP5 Nonsynonymous SNV G613S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 327960 chr1 152800254 152800254 C A rs376520997 LCE1A Nonsynonymous SNV S102R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.608 327961 chr2 128381851 128381851 C T MYO7B Stop gain Q1309X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 327962 chr1 153517211 153517211 C T rs79910171 S100A4 Synonymous SNV S20S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 20.9 327963 chr11 2632672 2632672 C G KCNQ1OT1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.164 327964 chr14 105201425 105201425 C T rs143122131 ADSS1 Synonymous SNV S87S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 19.23 327965 chr1 154557704 154557704 G C rs568610646 ADAR Synonymous SNV G849G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.05 327966 chr11 2909717 2909717 T G rs117253503 SLC22A18AS Nonsynonymous SNV N49T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.44 327967 chr1 155630119 155630119 G A rs752169560 YY1AP1 Nonsynonymous SNV R517W 0.001 0 0 0 1 0 0 0 0 0 0 0 24 327968 chr11 3128667 3128667 C T rs748703320 OSBPL5 Synonymous SNV L227L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.74 327969 chr10 19498448 19498448 C T rs778165554 MALRD1 Nonsynonymous SNV R944C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 327970 chr10 21177084 21177084 C G rs537661572 NEBL Nonsynonymous SNV R104P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.76 327971 chr1 156551598 156551598 C T rs757716065 TTC24 Stop gain Q148X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 327972 chr10 15290665 15290665 C T rs377172164 FAM171A1 Nonsynonymous SNV A243T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 327973 chr2 157369961 157369961 C T rs142821701 GPD2 Nonsynonymous SNV P205L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 327974 chr10 27703144 27703144 C T rs571770421 PTCHD3 Synonymous SNV P12P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.199 327975 chr1 158450326 158450326 T C OR10R2 Nonsynonymous SNV F220S 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 327976 chr11 421183 421183 G A rs146267683 ANO9 Synonymous SNV P306P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 327977 chr14 23072422 23072422 C T rs558738429 ABHD4 Synonymous SNV G80G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.78 327978 chr14 23243255 23243255 T G rs751555749 SLC7A7 Nonsynonymous SNV D439A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 327979 chr2 163302626 163302626 C T rs369243466 KCNH7 Nonsynonymous SNV A479T 0.001 0 0 0 1 0 0 0 0 0 0 0 27 327980 chr11 4615998 4615998 - CATGTGGCTCC OR52I1 Frameshift insertion G250Afs*27 0.001 0 0 0 1 0 0 0 0 0 0 0 327981 chr11 46799019 46799019 G A CKAP5 Synonymous SNV I944I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 327982 chr2 167266808 167266808 C T rs200605390 SCN7A Synonymous SNV T1211T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 327983 chr11 47188328 47188328 G A rs576771926 ARFGAP2 Nonsynonymous SNV R411W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 327984 chr2 169764372 169764372 G A G6PC2 Nonsynonymous SNV G284E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 327985 chr1 161018961 161018961 C T ARHGAP30 Nonsynonymous SNV S440N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 327986 chr2 170387099 170387099 G A FASTKD1 Stop gain Q748X 0.001 0 0 0 1 0 0 0 0 0 0 0 47 327987 chr1 167038159 167038159 C T rs150687485 GPA33 Nonsynonymous SNV V139M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 327988 chr1 167745327 167745327 C G MPZL1 Nonsynonymous SNV P211R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 327989 chr10 43292175 43292175 G C rs750742209 BMS1 Nonsynonymous SNV E495Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.52 327990 chr2 179330602 179330602 T A rs767299112 FKBP7 Synonymous SNV S187S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.13 327991 chr2 179451422 179451422 G A rs752270069 TTN Synonymous SNV I12337I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.13 327992 chr2 179585311 179585311 C T rs753546095 TTN Synonymous SNV S6482S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.42 327993 chr1 175365813 175365813 G A TNR Synonymous SNV L36L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.352 327994 chr10 69571264 69571264 A C rs77068920 DNAJC12 Synonymous SNV G105G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.562 327995 chr10 50714060 50714060 T C ERCC6 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely pathogenic 24.4 327996 chr2 189873901 189873901 T C rs34781844 COL3A1 Synonymous SNV A1259A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.693 327997 chr11 5443806 5443806 G A rs1019411957 OR51Q1 Nonsynonymous SNV V126M 0.001 0 0 0 1 0 0 0 0 0 0 0 26 327998 chr11 5530128 5530128 G T rs201381591 UBQLN3 Nonsynonymous SNV L221M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 327999 chr1 200842361 200842361 G C rs768767160 GPR25 Nonsynonymous SNV G66R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.06 328000 chr2 206608155 206608155 G A rs537993529 NRP2 Nonsynonymous SNV R507H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 328001 chr2 207170233 207170233 A G ZDBF2 Synonymous SNV A327A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.267 328002 chr10 91476273 91476273 T G KIF20B Nonsynonymous SNV F341V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 328003 chr10 71905362 71905362 C T rs768423595 TYSND1 Synonymous SNV E327E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.376 328004 chr2 210574937 210574937 G A rs752402917 MAP2 Nonsynonymous SNV G322R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 328005 chr10 95445112 95445112 T C rs117753873 FRA10AC1 Synonymous SNV Q172Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.518 328006 chr10 75607016 75607016 C T rs201255317 CAMK2G Synonymous SNV T158T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 328007 chr10 98510035 98510035 G A rs675827 RPL13AP5 0 0 0.007 0 0 0 0 2 0 0 1 0 9.757 328008 chr1 204587062 204587062 C T rs554144498 LRRN2 Nonsynonymous SNV V687I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 328009 chr11 1016721 1016721 G C rs781233075 MUC6 Nonsynonymous SNV T2027S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 328010 chr2 220075525 220075525 C T rs757665334 ABCB6 Nonsynonymous SNV E676K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328011 chr14 92336597 92336597 G A rs373274789 FBLN5 Nonsynonymous SNV R440W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.9 328012 chr10 91477234 91477234 G A rs150890799 KIF20B Nonsynonymous SNV R369H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 328013 chr10 95994026 95994026 T C rs140596357 PLCE1 Nonsynonymous SNV M416T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.86 328014 chr1 216390763 216390763 G T rs149304901 USH2A Nonsynonymous SNV H1041Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 328015 chr10 97007123 97007123 - GGTCTGCTGTTCGCCTCCACCCCGCTGGCAGCAGTCTTTGACTCCAGGGCATTGTTGAAGTTGGAGATATTTT PDLIM1 Frameshift insertion L179Kfs*41 0.001 0 0 0 1 0 0 0 0 0 0 0 328016 chr14 99983506 99983506 G C rs778725554 CCDC85C Synonymous SNV P330P 0.001 0 0.003 0 1 0 0 1 0 0 0 0 6.503 328017 chr11 57947775 57947775 C A rs148066479 OR9Q1 Nonsynonymous SNV L287I 0.003 0 0 0 3 0 0 0 0 0 0 0 9.476 328018 chr15 100821565 100821565 G A rs755767925 ADAMTS17 Nonsynonymous SNV R220W 0 0.003 0 0 0 1 0 0 0 0 0 0 28.6 328019 chr11 107832795 107832795 A C RAB39A Synonymous SNV P117P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 328020 chr11 108122659 108122659 G T rs200381392 ATM Nonsynonymous SNV R568I 0 0 0.007 0 0 0 0 2 0 0 0 0 Conflicting interpretations of pathogenicity 15.26 328021 chr15 29415701 29415701 C T rs61736884 FAM189A1 Synonymous SNV A487A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 328022 chr11 113140998 113140998 C T rs201927228 NCAM1 Synonymous SNV D730D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.15 328023 chr15 32323182 32323182 A G rs201529515 CHRNA7 Nonsynonymous SNV N46S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 328024 chr11 113270041 113270041 C T rs56005821 ANKK1 Synonymous SNV H450H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.231 328025 chr11 5969109 5969109 T C rs540988763 OR56A3 Nonsynonymous SNV I178T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328026 chr11 59997399 59997399 G A rs768127105 MS4A4E Synonymous SNV N19N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328027 chr11 60531284 60531284 G A rs575190018 MS4A15 Synonymous SNV P26P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 328028 chr11 60531388 60531388 G A rs374458640 MS4A15 Nonsynonymous SNV R61Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.296 328029 chr11 60638437 60638437 C A rs543724358 ZP1 Synonymous SNV V278V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 328030 chr15 40587461 40587461 C T rs35388653 PLCB2 Synonymous SNV S570S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.91 328031 chr11 118133305 118133305 A T MPZL2 Nonsynonymous SNV V95E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 328032 chr11 60705355 60705355 G A rs528140464 SLC15A3 Synonymous SNV C526C 0.001 0 0 0 1 0 0 0 0 0 0 0 7.416 328033 chr15 41348850 41348850 G A rs377374850 INO80 Synonymous SNV T680T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.69 328034 chr1 231752436 231752436 C A rs761266263 TSNAX-DISC1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.452 328035 chr11 120310921 120310921 A C rs370519171 ARHGEF12 Nonsynonymous SNV E342D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 328036 chr11 121323267 121323267 C T rs372705427 SORL1 Nonsynonymous SNV P76L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.92 328037 chr11 102076780 102076780 T G rs779958995 YAP1 Nonsynonymous SNV L282R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 328038 chr11 102394016 102394016 A C rs370896862 MMP7 Nonsynonymous SNV F244V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 328039 chr11 62601426 62601426 G A rs377339802 LOC105369332 0.001 0 0 0 1 0 0 0 0 0 0 0 4.104 328040 chr11 10789403 10789403 A G CTR9 Synonymous SNV Q579Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.895 328041 chr11 113607412 113607412 C A rs767037662 ZW10 Nonsynonymous SNV V717L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328042 chr11 126215362 126215362 T G rs143135288 DCPS Nonsynonymous SNV S297A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.623 328043 chr11 129996629 129996629 T A APLP2 Nonsynonymous SNV D146E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 328044 chr11 116732565 116732565 C T rs764103160 SIK3 Synonymous SNV Q721Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 328045 chr11 65123531 65123531 C G TIGD3 Synonymous SNV L84L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.71 328046 chr1 248097103 248097103 T A OR2AJ1 Nonsynonymous SNV D12E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.3 328047 chr11 65161739 65161739 G A rs61763056 FRMD8 Nonsynonymous SNV E86K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.68 328048 chr11 117342628 117342628 C T rs758642341 DSCAML1 Nonsynonymous SNV R970H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 328049 chr11 133768413 133768413 G C rs779747847 MIR4697, MIR4697HG 0 0 0.003 0 0 0 0 1 0 0 0 0 2.798 328050 chr15 59102474 59102474 C T rs756547153 MINDY2 Synonymous SNV L337L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.71 328051 chr11 134215185 134215185 C T rs117843478 GLB1L2 Nonsynonymous SNV S158L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.618 328052 chr15 59981052 59981052 G A rs777779013 BNIP2 Nonsynonymous SNV P3L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.191 328053 chr1 249141955 249141955 C T rs753468426 ZNF672 Nonsynonymous SNV P161L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.5 328054 chr11 65620772 65620772 G A rs754803075 SNX32 Nonsynonymous SNV R393Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 328055 chr11 17414560 17414560 G A ABCC8 Nonsynonymous SNV S1575F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 328056 chr3 15686894 15686894 C G rs397514427 BTD Nonsynonymous SNV Q491E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.06 328057 chr3 30713746 30713746 G A TGFBR2 Synonymous SNV G357G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 6.691 328058 chr15 73593721 73593721 C T rs936240707 NEO1 Nonsynonymous SNV R1356W 0.002 0 0 0 2 0 0 0 0 0 0 0 35 328059 chr2 21236343 21236343 A C rs979720051 APOB Nonsynonymous SNV F1302C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 328060 chr2 23980560 23980560 T C ATAD2B Nonsynonymous SNV N1264S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 328061 chr15 77346603 77346603 G A rs750216980 TSPAN3 Nonsynonymous SNV R53C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 328062 chr3 39229340 39229340 C T rs200522996 XIRP1 Nonsynonymous SNV V533M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 328063 chr11 72425238 72425238 G A rs377222092 ARAP1 Nonsynonymous SNV P213L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 328064 chr15 79350697 79350697 C T RASGRF1 Synonymous SNV E170E 0 0.003 0 0 0 1 0 0 0 0 0 0 13.8 328065 chr2 27455945 27455945 A G rs367879254 CAD Synonymous SNV P913P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 328066 chr11 399009 399009 C G rs147995759 PKP3 Synonymous SNV A362A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.762 328067 chr2 27804276 27804276 A C C2orf16 Nonsynonymous SNV N1613H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 328068 chr11 4471393 4471393 A T rs61998219 OR52K2 Nonsynonymous SNV H275L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 328069 chr15 89400192 89400192 C A ACAN Nonsynonymous SNV T1459N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 328070 chr11 47727181 47727181 G A rs747918432 AGBL2 Nonsynonymous SNV H98Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 328071 chr3 48698106 48698106 C T CELSR3 Synonymous SNV T654T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.489 328072 chr2 43519295 43519295 G A rs34600960 THADA Synonymous SNV L1629L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 328073 chr2 43800021 43800021 T C rs775122260 THADA Nonsynonymous SNV T614A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328074 chr2 45879330 45879330 C T rs536386524 PRKCE Nonsynonymous SNV P31S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.1 328075 chr11 18764935 18764935 G A rs763389255 PTPN5 Synonymous SNV I87I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.01 328076 chr3 50225311 50225311 C T SEMA3F Synonymous SNV F608F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 328077 chr11 18956206 18956206 C T rs147529961 MRGPRX1 Synonymous SNV L42L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.229 328078 chr15 90904201 90904201 T C rs746445993 ZNF774 Nonsynonymous SNV C380R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 328079 chr15 91424619 91424619 C T rs201838174 FURIN Synonymous SNV D632D 0 0.003 0 0 0 1 0 0 0 0 0 0 14.72 328080 chr11 93430284 93430284 G A rs973756409 CEP295 Nonsynonymous SNV A736T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.284 328081 chr2 54874343 54874343 G A SPTBN1 Nonsynonymous SNV V1635M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 328082 chr11 2427973 2427973 C - rs760536858 TRPM5 V1057Sfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 328083 chr2 64780376 64780376 G A rs139549105 AFTPH Nonsynonymous SNV D590N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 328084 chr11 5013325 5013325 G A rs371733570 MMP26 Nonsynonymous SNV D243N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 328085 chr11 5080418 5080418 C T rs114382179 OR52E2 Nonsynonymous SNV G147D 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 328086 chr11 5199455 5199455 A G rs116318275 OR52Z1 Nonsynonymous SNV I129T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.872 328087 chr3 60522690 60522690 C A rs137953369 FHIT Synonymous SNV S2S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 18.94 328088 chr12 104089327 104089327 G T rs749139756 STAB2 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 328089 chr11 31812323 31812323 G C rs201690439 PAX6 Nonsynonymous SNV T172S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.2 328090 chr3 69246188 69246188 T G rs367935491 FRMD4B Nonsynonymous SNV I319L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 328091 chr11 34184163 34184163 C G rs374047007 ABTB2 Nonsynonymous SNV E726D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 328092 chr11 556113 556113 G A LMNTD2 Synonymous SNV V420V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.937 328093 chr12 108912716 108912716 C T rs201680778 FICD Nonsynonymous SNV R281C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 328094 chr2 80136848 80136848 G A rs745441744 CTNNA2 Synonymous SNV R327R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 328095 chr16 17564589 17564589 A G XYLT1 Nonsynonymous SNV L22P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 328096 chr16 18864921 18864921 G A rs188559863 SMG1 Synonymous SNV I1584I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 328097 chr3 101136541 101136541 A C rs200412579 SENP7 Nonsynonymous SNV D93E 0.001 0 0 0 1 0 0 0 0 0 0 0 25 328098 chr12 113645271 113645271 G A rs372159317 IQCD Nonsynonymous SNV A234V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.19 328099 chr16 2578623 2578623 C T AMDHD2 Nonsynonymous SNV P345S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 328100 chr11 57572202 57572202 C T rs775782206 CTNND1 Nonsynonymous SNV L457F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 328101 chr3 122598171 122598171 G A SLC49A4 Synonymous SNV L461L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.847 328102 chr11 60702106 60702106 T C rs764528103 TMEM132A Nonsynonymous SNV L570P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 328103 chr3 125172734 125172734 C T rs776419943 SNX4 Synonymous SNV Q370Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13 328104 chr16 3358666 3358666 G C ZNF75A Nonsynonymous SNV E80Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.02 328105 chr2 131519798 131519798 G A AMER3 Synonymous SNV K51K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.111 328106 chr16 3405985 3405985 G A OR2C1 Nonsynonymous SNV M15I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 328107 chr12 130912743 130912743 G A rs761871739 RIMBP2 Nonsynonymous SNV T781M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 26.9 328108 chr11 62298785 62298785 T C rs369263222 AHNAK Nonsynonymous SNV D1035G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 328109 chr12 13242150 13242150 G A rs201120155 GSG1 Nonsynonymous SNV A142V 0.001 0 0 0 1 0 0 0 0 0 0 0 16.01 328110 chr2 141680654 141680654 C T rs745676943 LRP1B Nonsynonymous SNV V1067I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.22 328111 chr2 152423690 152423690 G A NEB Stop gain Q4349X 0.001 0 0 0 1 0 0 0 0 0 0 0 59 328112 chr12 22218184 22218184 G A CMAS Nonsynonymous SNV R415Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24 328113 chr2 167142945 167142945 C T rs766468627 SCN9A Synonymous SNV S501S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.56 328114 chr3 150690266 150690266 C T CLRN1 Nonsynonymous SNV G77E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 328115 chr11 56185650 56185650 C T rs140741072 OR5R1 Nonsynonymous SNV R20Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 328116 chr11 5631375 5631375 G A rs149440875 TRIM6, TRIM6-TRIM34 Synonymous SNV R83R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.93 328117 chr16 66997490 66997490 C G CES3 Nonsynonymous SNV N128K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 328118 chr11 66460037 66460037 G T rs763157375 SPTBN2 Nonsynonymous SNV H1720Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 328119 chr11 6739993 6739993 G A rs141319423 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.446 328120 chr11 6789300 6789300 C G rs202185618 OR2AG2 Nonsynonymous SNV V297L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 328121 chr11 69063528 69063528 G A rs543791821 MYEOV Nonsynonymous SNV R146H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.222 328122 chr11 72319766 72319766 G A rs528507612 PDE2A Synonymous SNV I51I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 328123 chr2 189849581 189849581 T G COL3A1 Nonsynonymous SNV S59A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.43 328124 chr11 73429752 73429752 T C rs557001827 RAB6A Synonymous SNV Q65Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.01 328125 chr2 190426660 190426660 C T rs369255146 SLC40A1 Nonsynonymous SNV G554S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.274 328126 chr11 76885947 76885947 C T rs200057810 MYO7A Nonsynonymous SNV P694L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.8 328127 chr2 204161510 204161510 T A rs141888883 CYP20A1 Nonsynonymous SNV L256H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 328128 chr12 53412625 53412625 G A rs188254368 EIF4B Synonymous SNV A65A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 328129 chr11 84245709 84245709 T C rs557832004 DLG2 Synonymous SNV V36V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.227 328130 chr11 62649469 62649469 C A rs570866379 SLC3A2 Nonsynonymous SNV L177M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.26 328131 chr11 640110 640157 GGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC - DRD4 P292_G307del 0.001 0 0 0 1 0 0 0 0 0 0 0 328132 chr16 89883003 89883003 C G FANCA Synonymous SNV P7P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.54 328133 chr11 64537462 64537462 G A rs771955058 SF1 Synonymous SNV N36N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.867 328134 chr11 6458345 6458345 G A rs764755181 HPX Nonsynonymous SNV R256C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 328135 chr12 63544592 63544592 C T AVPR1A Nonsynonymous SNV A9T 0.002 0 0 0 2 0 0 0 0 0 0 0 14.56 328136 chr12 102064162 102064162 C A MYBPC1 Nonsynonymous SNV A812D 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 328137 chr4 5795370 5795370 G A EVC Synonymous SNV L604L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.94 328138 chr17 11984753 11984753 A G MAP2K4 Nonsynonymous SNV E100G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 328139 chr11 67069239 67069239 G A ANKRD13D Nonsynonymous SNV G517S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.41 328140 chr4 13604718 13604718 T C BOD1L1 Nonsynonymous SNV D1269G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.484 328141 chr12 80214883 80214883 T G PPP1R12A Nonsynonymous SNV N224H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 328142 chr12 121712041 121712041 G A rs200801054 CAMKK2 Nonsynonymous SNV R97C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 328143 chr12 123875287 123875287 C A rs753611757 KMT5A Synonymous SNV V24V 0 0 0.007 0 0 0 0 2 0 0 1 0 16.72 328144 chr12 13154466 13154466 C G HTR7P1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 328145 chr13 103514618 103514618 C T rs375599456 BIVM-ERCC5, ERCC5 Synonymous SNV N373N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.407 328146 chr2 242742894 242742894 C G GAL3ST2 Nonsynonymous SNV F170L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 328147 chr12 16397713 16397713 A C SLC15A5 Nonsynonymous SNV V259G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 328148 chr12 16425562 16425562 C T rs186733826 SLC15A5 Nonsynonymous SNV V173I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 328149 chr17 3402271 3402271 C A rs78677072 ASPA Synonymous SNV T277T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.23 328150 chr13 24190152 24190152 C T rs751217885 TNFRSF19 Synonymous SNV T109T 0.002 0 0 0 2 0 0 0 0 0 0 0 10.95 328151 chr4 78086974 78086974 T C rs201736578 CCNG2 Nonsynonymous SNV M311T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 328152 chr13 33703619 33703619 T C STARD13 Nonsynonymous SNV K391E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 328153 chr3 24001261 24001261 C A NR1D2 Nonsynonymous SNV Q83K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.14 328154 chr11 99690497 99690497 G A CNTN5 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 328155 chr13 50204925 50204925 C T ARL11 Synonymous SNV G114G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 328156 chr12 49725091 49725091 C T rs773125991 TROAP Synonymous SNV D731D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.02 328157 chr13 60584780 60584780 A C DIAPH3 Nonsynonymous SNV S2R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 328158 chr4 123664058 123664058 T C rs762298486 BBS12 Synonymous SNV V337V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.066 328159 chr4 123855545 123855545 G A rs776146045 SPATA5 Nonsynonymous SNV V266I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.029 328160 chr4 126373233 126373233 G A rs141194669 FAT4 Nonsynonymous SNV G3690R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 328161 chr3 45559486 45559486 C A LARS2 Synonymous SNV P712P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.53 328162 chr14 102481666 102481666 G T rs138407720 DYNC1H1 Synonymous SNV L2413L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.305 328163 chr3 45559487 45559487 C G LARS2 Nonsynonymous SNV Q713E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.986 328164 chr12 55820204 55820204 C G rs778131455 OR6C76 Nonsynonymous SNV P56R 0 0 0.007 0 0 0 0 2 0 0 1 0 26.5 328165 chr14 104206519 104206519 G A PPP1R13B Nonsynonymous SNV P745L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 328166 chr4 152201052 152201052 T C PRSS48 Nonsynonymous SNV C53R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 328167 chr12 57589076 57589076 C G LRP1 Synonymous SNV S2777S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 328168 chr3 49680275 49680275 G A BSN Nonsynonymous SNV G403E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.165 328169 chr14 105457831 105457831 C T rs199898480 CLBA1 Synonymous SNV N191N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.694 328170 chr4 155507664 155507664 C T FGA Nonsynonymous SNV G306E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 328171 chr14 20404350 20404350 T G rs773269514 OR4K1 Nonsynonymous SNV D175E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 328172 chr12 122248494 122248494 C G SETD1B Nonsynonymous SNV T548S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.753 328173 chr14 20869729 20869729 G A rs774622405 TEP1 Synonymous SNV A318A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.515 328174 chr3 57494931 57494931 C T rs143977508 DNAH12 Nonsynonymous SNV V160I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 328175 chr12 122716869 122716869 G A rs758655520 VPS33A Nonsynonymous SNV T465I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328176 chr4 175413187 175413187 C T rs200576175 HPGD Nonsynonymous SNV A173T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.8 328177 chr12 7026841 7026841 A T ENO2 Nonsynonymous SNV Q136L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 328178 chr12 70747693 70747693 - A rs35192504 CNOT2 X541delinsX 0 0 0.003 0 0 0 0 1 0 0 0 0 328179 chr12 7310660 7310660 C T rs139049762 CLSTN3 Nonsynonymous SNV P952S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.1 328180 chr17 5984179 5984179 G A rs764797355 WSCD1 Synonymous SNV L67L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.127 328181 chr3 97851828 97851828 A C rs761563388 OR5H1 Nonsynonymous SNV E96A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.969 328182 chr17 651044 651044 G A rs370389257 GEMIN4 Nonsynonymous SNV P80L 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 328183 chr3 107491964 107491964 A G rs771913382 BBX Nonsynonymous SNV K466E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 328184 chr12 95918552 95918554 CTT - rs780605905 USP44 R546del 0 0 0.003 0 0 0 0 1 0 0 0 0 328185 chr12 98909512 98909512 C T rs977435157 TMPO-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.704 328186 chr5 14488046 14488046 G A rs773401747 TRIO Nonsynonymous SNV A2437T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.08 328187 chr13 101769340 101769340 G A rs778224492 NALCN Nonsynonymous SNV T737M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 328188 chr14 51211075 51211075 T C NIN Synonymous SNV R978R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.484 328189 chr13 111995203 111995203 T G TEX29 Nonsynonymous SNV L114V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 328190 chr12 40704345 40704345 G A rs780334763 LRRK2 Nonsynonymous SNV R1477Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 328191 chr13 23913481 23913481 G A rs750927163 SACS Nonsynonymous SNV P1365S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 328192 chr14 65194387 65194387 A G PLEKHG3 Nonsynonymous SNV Q13R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 328193 chr3 130383865 130383865 C T rs758598222 COL6A6 Nonsynonymous SNV P2174L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328194 chr3 131186940 131186940 C T MRPL3 Nonsynonymous SNV V297I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328195 chr14 68042541 68042541 G A rs532622152 PLEKHH1 Nonsynonymous SNV R724Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 328196 chr3 131624258 131624258 G A rs780788127 CPNE4 Synonymous SNV S28S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.532 328197 chr14 71518695 71518695 G A PCNX1 Nonsynonymous SNV V1404I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 328198 chr14 73008236 73008236 T C rs184082432 RGS6 Nonsynonymous SNV M452T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.03 328199 chr14 73720589 73720589 G A rs145657526 PAPLN Nonsynonymous SNV G408R 0.002 0 0 0 2 0 0 0 0 0 0 0 26.9 328200 chr5 76028187 76028187 G A rs781233317 F2R Nonsynonymous SNV R46K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.103 328201 chr5 76342325 76342325 A G rs149788789 AGGF1 Nonsynonymous SNV I342V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328202 chr5 77425129 77425129 T C rs764324746 AP3B1 Synonymous SNV T502T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.613 328203 chr17 79170833 79170833 G A rs780199740 CEP131 Nonsynonymous SNV P557L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 328204 chr13 99853184 99853184 A G UBAC2 Nonsynonymous SNV S8G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 328205 chr17 8052595 8052595 G C rs140853060 PER1 Nonsynonymous SNV S296C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 328206 chr5 82969268 82969268 A G HAPLN1 Synonymous SNV D25D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 328207 chr5 89948309 89948309 T C rs368562997 ADGRV1 Nonsynonymous SNV I1188T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.75 328208 chr5 93077264 93077264 G C rs767125228 POU5F2 Synonymous SNV A2A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.582 328209 chr14 96777559 96777559 A G rs147803900 ATG2B Synonymous SNV S1352S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.68 328210 chr5 108521908 108521908 C T rs141853188 FER Synonymous SNV Y368Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.27 328211 chr18 23866321 23866321 C G TAF4B Nonsynonymous SNV S483C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 328212 chr18 21141493 21141493 T G NPC1 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 328213 chr18 2697097 2697097 C G SMCHD1 Nonsynonymous SNV P370A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 328214 chr3 188933123 188933123 G A rs370291238 TPRG1 Nonsynonymous SNV V85I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.034 328215 chr5 137013243 137013243 T C rs143713380 KLHL3 Synonymous SNV S127S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.836 328216 chr5 137518463 137518463 - T rs774852632 KIF20A 0.001 0 0 0 1 0 0 0 0 0 0 0 328217 chr5 139193290 139193290 G C PSD2 Synonymous SNV G256G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 328218 chr5 139508198 139508198 T C IGIP Nonsynonymous SNV L46P 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 328219 chr18 48458631 48458631 A G ME2 Nonsynonymous SNV R440G 0.001 0 0 0 1 0 0 0 0 0 0 0 27 328220 chr3 197518205 197518205 T A LRCH3 Nonsynonymous SNV V19E 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 328221 chr12 80733008 80733008 C T rs759174628 OTOGL Stop gain R1663X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 37 328222 chr5 140572248 140572248 A G rs61739620 PCDHB10 Synonymous SNV K41K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.278 328223 chr5 140741838 140741838 C A rs183808051 PCDHGB2 Synonymous SNV S712S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 328224 chr5 140788731 140788731 C T rs115772303 PCDHGB6 Nonsynonymous SNV A321V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 328225 chr5 140794664 140794664 C T PCDHGA10 Nonsynonymous SNV A641V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 328226 chr5 141059570 141059570 C T rs139433211 ARAP3 Nonsynonymous SNV G162S 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 328227 chr18 60223450 60223450 G C ZCCHC2 Nonsynonymous SNV S443T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 328228 chr15 48623812 48623812 G A rs28381099 DUT Nonsynonymous SNV E34K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 328229 chr15 49880280 49880280 C - rs747161315 FAM227B S113Ifs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 328230 chr15 52905898 52905898 T G rs750151637 FAM214A Nonsynonymous SNV K65T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 328231 chr18 70417598 70417598 A G NETO1 Nonsynonymous SNV F414L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.132 328232 chr13 101707728 101707728 G A NALCN Synonymous SNV C1683C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.82 328233 chr4 7436011 7436011 C T rs201914640 PSAPL1 Nonsynonymous SNV R199Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.602 328234 chr17 19216587 19216587 C T rs184341621 EPN2 Nonsynonymous SNV S96L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 328235 chr18 76754485 76754485 T C rs749060576 SALL3 Nonsynonymous SNV S832P 0.001 0 0 0 1 0 0 0 0 0 0 0 21 328236 chr13 110436867 110436867 C G rs367592112 IRS2 Nonsynonymous SNV A512P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 328237 chr13 111109315 111109315 C - rs753573551 COL4A2-AS2 D253Tfs*105 0.001 0 0 0 1 0 0 0 0 0 0 0 328238 chr4 37836276 37836276 T C PGM2 Synonymous SNV L96L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.333 328239 chr5 171471949 171471949 T G rs769544319 STK10 Synonymous SNV P948P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.941 328240 chr14 88904234 88904234 C T rs777018521 SPATA7 Nonsynonymous SNV S391L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 328241 chr13 24860532 24860532 G A SPATA13 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 328242 chr4 41984215 41984215 A C rs753756703 DCAF4L1 Nonsynonymous SNV N136H 0.002 0 0 0 2 0 0 0 0 0 0 0 23.4 328243 chr19 10798146 10798146 A G ILF3 Synonymous SNV P728P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.235 328244 chr14 93043721 93043721 G A rs148082115 RIN3 Nonsynonymous SNV R14Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 328245 chr13 28542818 28542818 C T CDX2 Nonsynonymous SNV S109N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 328246 chr4 56482517 56482517 A G NMU Synonymous SNV D69D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.566 328247 chr5 180687087 180687087 T - rs777769914 TRIM52 E243Gfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 328248 chr13 45602063 45602063 - A rs759501317 GPALPP1 Frameshift insertion A319Sfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 328249 chr4 71227850 71227850 G T SMR3A Nonsynonymous SNV W6C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 328250 chr15 25230147 25230147 A G rs112097055 PWAR5 0 0 0.003 0 0 0 0 1 0 0 0 0 4.435 328251 chr15 25434432 25434432 A T rs2739754 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.09 328252 chr15 25442555 25442555 C T rs2739766 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 1.462 328253 chr15 25442556 25442556 T C rs2739767 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 328254 chr15 25470712 25470712 T C rs57243999 SNHG14 0 0 0.007 0 0 0 0 2 0 0 0 0 0.188 328255 chr6 17600787 17600787 C T FAM8A1 Synonymous SNV A49A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.4 328256 chr6 17624936 17624936 T C rs535067637 NUP153 Nonsynonymous SNV I1302V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 328257 chr6 20109903 20109903 G A rs371249586 MBOAT1 Synonymous SNV V429V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.15 328258 chr4 79792163 79792163 - CAC rs778282890 BMP2K H494_L495insH 0.001 0 0 0 1 0 0 0 0 0 0 0 328259 chr6 24448188 24448188 A G rs754141804 GPLD1 Nonsynonymous SNV I532T 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 328260 chr19 17007316 17007316 G A CPAMD8 Synonymous SNV C1742C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.693 328261 chr6 28227878 28227878 A G NKAPL Synonymous SNV K243K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 328262 chr16 1435351 1435351 C T UNKL Synonymous SNV P374P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.34 328263 chr19 1820048 1820048 G T rs141481685 REXO1 Nonsynonymous SNV N845K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 328264 chr19 18368220 18368220 G T rs150551510 IQCN Nonsynonymous SNV L1292M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.261 328265 chr19 18377004 18377004 G A rs532713956 IQCN Nonsynonymous SNV A449V 0 0.003 0 0 0 1 0 0 0 0 0 0 3.903 328266 chr16 1545442 1545442 A G rs748127959 TELO2 Nonsynonymous SNV Q144R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.229 328267 chr4 109004600 109004600 T G rs35620964 LEF1 Nonsynonymous SNV M184L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 328268 chr17 40913372 40913372 G A rs560836542 RAMP2 Synonymous SNV L31L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.73 328269 chr15 50557804 50557804 T C HDC Nonsynonymous SNV E6G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 328270 chr16 1810438 1810438 G A rs762071569 MAPK8IP3 Synonymous SNV G447G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 328271 chr19 21240184 21240184 C T ZNF430 Nonsynonymous SNV S356F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 328272 chr19 21240190 21240190 C A ZNF430 Nonsynonymous SNV T358N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 328273 chr19 21240199 21240199 C A ZNF430 Nonsynonymous SNV T361K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 328274 chr19 21240211 21240211 T C ZNF430 Nonsynonymous SNV I365T 0 0.003 0 0 0 1 0 0 0 0 0 0 7.616 328275 chr15 58787053 58787053 C A rs779437232 LIPC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 328276 chr4 123202734 123202734 - A KIAA1109 Frameshift insertion T2950Nfs*6 0.001 0 0 0 1 0 0 0 0 0 0 0 328277 chr15 59368347 59368347 - CAGCCC rs778253298 RNF111 P633_P634insQP 0 0 0.003 0 0 0 0 1 0 0 0 0 328278 chr14 21542816 21542816 G T rs761164818 ARHGEF40 Synonymous SNV G309G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.12 328279 chr19 2878014 2878014 C T rs79688558 ZNF556 Nonsynonymous SNV A352V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.061 328280 chr19 2917219 2917219 A G ZNF57 Synonymous SNV A168A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.476 328281 chr19 3273878 3273878 G C CELF5 Synonymous SNV R117R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.537 328282 chr15 65773949 65773949 A C DPP8 Nonsynonymous SNV I341R 0 0 0.003 0 0 0 0 1 0 0 0 0 2.488 328283 chr19 3544820 3544820 G C rs201876501 MFSD12 Synonymous SNV T460T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.874 328284 chr14 24003533 24003533 G A ZFHX2 Synonymous SNV I334I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 328285 chr14 24551864 24551864 G T rs947365226 NRL Nonsynonymous SNV T65N 0.001 0 0 0 1 0 0 0 0 0 0 0 9.614 328286 chr6 44227001 44227001 A G rs766864666 NFKBIE Synonymous SNV F347F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 328287 chr14 24600932 24600932 C T rs778395604 FITM1 Nonsynonymous SNV R54C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 328288 chr16 28857403 28857403 A G rs371161228 TUFM Nonsynonymous SNV L26P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 328289 chr4 159592843 159592843 C G rs146620946 C4orf46 Nonsynonymous SNV L37F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 328290 chr4 170037717 170037717 G A rs377074300 SH3RF1 Synonymous SNV A614A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.83 328291 chr15 84651269 84651269 G C ADAMTSL3 Nonsynonymous SNV K963N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 328292 chr19 38379408 38379408 C T WDR87 Nonsynonymous SNV A1635T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 328293 chr16 3820752 3820752 G A CREBBP Nonsynonymous SNV T862I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 328294 chr6 74161271 74161271 C T rs369422354 CGAS Nonsynonymous SNV G212R 0.001 0 0 0 1 0 0 0 0 0 0 0 26 328295 chr14 58827737 58827737 C G ARID4A Nonsynonymous SNV T686R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328296 chr5 484748 484748 C T rs202225949 SLC9A3 Synonymous SNV S273S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 328297 chr5 1235646 1235646 C T rs372833521 SLC6A18 Nonsynonymous SNV R164W 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 328298 chr16 55519616 55519616 C T rs148801200 MMP2 Synonymous SNV S203S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.1 328299 chr5 5319210 5319210 G A rs756225310 ADAMTS16 Nonsynonymous SNV G1212S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328300 chr14 64194334 64194334 C A rs772218108 SGPP1 Nonsynonymous SNV R110L 0.001 0 0 0 1 0 0 0 0 0 0 0 31 328301 chr5 16794813 16794813 C T rs752120643 MYO10 Nonsynonymous SNV A137T 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328302 chr19 42855402 42855402 G A rs368247409 MEGF8 Nonsynonymous SNV R857H 0 0.003 0 0 0 1 0 0 0 0 0 0 33 328303 chr5 33881299 33881299 G A rs143167805 ADAMTS12 Synonymous SNV L138L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.001 328304 chr6 105726033 105726033 C T rs554298353 PREP Nonsynonymous SNV D707N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 328305 chr16 13297274 13297274 G A SHISA9 Nonsynonymous SNV V239M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 328306 chr16 67244005 67244005 G A rs373718345 LRRC29 Synonymous SNV H29H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.137 328307 chr16 15802687 15802687 G A rs111588143 MYH11 Nonsynonymous SNV P1933L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.95 328308 chr16 1718028 1718028 G A rs376815435 CRAMP1 Synonymous SNV P1056P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.082 328309 chr14 74539255 74539255 G A rs566439215 ALDH6A1 Synonymous SNV I57I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.18 328310 chr14 76232593 76232593 A G rs141429300 TTLL5 Nonsynonymous SNV N633D 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.179 328311 chr16 22108237 22108237 T C rs772451368 VWA3A Synonymous SNV G24G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 328312 chr5 61747694 61747694 C T IPO11 Synonymous SNV T190T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.62 328313 chr5 68660789 68660803 TCATCATCATCATCG - rs767022180 TAF9 D256_D260del 0.001 0 0 0 1 0 0 0 0 0 0 0 328314 chr5 68670538 68670538 G C RAD17 Nonsynonymous SNV Q128H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.53 328315 chr5 72469246 72469246 G A rs267600682 TMEM174 Stop gain W59X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 328316 chr19 47546146 47546146 G A rs139868234 NPAS1 Synonymous SNV P432P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.288 328317 chr5 76715704 76715704 G A rs372198477 PDE8B Nonsynonymous SNV A651T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 328318 chr6 146126373 146126373 T C rs144190690 FBXO30 Nonsynonymous SNV N390S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 328319 chr16 3165214 3165214 G A ZNF205-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.785 328320 chr14 96730508 96730508 T G BDKRB1 Synonymous SNV V163V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.378 328321 chr6 151672373 151672373 G A rs777248972 AKAP12 Synonymous SNV T844T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.47 328322 chr6 152734658 152734658 A T rs749686041 SYNE1 Nonsynonymous SNV V2027E 0.001 0 0 0 1 0 0 0 0 0 0 0 16.63 328323 chr5 96225088 96225088 T C rs755647789 ERAP2 Nonsynonymous SNV M350T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.425 328324 chr16 58030934 58030934 G C rs537261576 ZNF319 Synonymous SNV A412A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 328325 chr16 58550196 58550196 C G rs200835277 SETD6 Nonsynonymous SNV P142R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 328326 chr5 122425831 122425831 C G PRDM6 Nonsynonymous SNV A41G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.205 328327 chr16 89865630 89865630 G A rs752311383 FANCA Synonymous SNV D247D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 1.408 328328 chr16 67333406 67333406 G A rs201466127 KCTD19 Synonymous SNV S282S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.871 328329 chr15 43350562 43350562 G A UBR1 Nonsynonymous SNV L387F 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 328330 chr7 892498 892498 T G rs199719259 SUN1 Nonsynonymous SNV L218W 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.404 328331 chr15 44176993 44176993 A C FRMD5 Nonsynonymous SNV S285R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 328332 chr16 711706 711706 C T rs372985487 WDR90 Synonymous SNV D1261D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.41 328333 chr16 74497366 74497366 C T rs773543920 GLG1 Synonymous SNV P882P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.43 328334 chr16 74729336 74729336 T C MLKL Nonsynonymous SNV D107G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 328335 chr5 140735996 140735996 T C PCDHGA4 Nonsynonymous SNV L441P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328336 chr7 5752438 5752438 C T rs549025190 RNF216 Synonymous SNV L630L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.7 328337 chr15 62221902 62221902 A G rs757016828 VPS13C Synonymous SNV I1985I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 328338 chr17 26946711 26946711 T A KIAA0100 Nonsynonymous SNV N1725I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.931 328339 chr5 153056562 153056562 T C rs200078037 GRIA1 Synonymous SNV S210S 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.589 328340 chr7 30197107 30197107 C T rs546161603 MTURN Synonymous SNV D113D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 328341 chr19 57641329 57641329 A T rs757423128 USP29 Nonsynonymous SNV E429V 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 328342 chr16 89784316 89784316 A C rs373861591 VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.479 328343 chr19 5785512 5785512 C T rs559204251 DUS3L Nonsynonymous SNV V346M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.1 328344 chr7 44802868 44802870 CAG - ZMIZ2 S548del 0.001 0 0 0 1 0 0 0 0 0 0 0 328345 chr19 58928514 58928514 G A rs759216610 ZNF584 Nonsynonymous SNV G165E 0.001 0 0 0 1 0 0 0 0 0 0 0 1.147 328346 chr5 176737510 176737510 G A MXD3 Synonymous SNV L80L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.29 328347 chr5 177547209 177547209 A G rs148261789 N4BP3 Nonsynonymous SNV T121A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328348 chr19 7997572 7997572 G A TIMM44 Synonymous SNV A309A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 328349 chr6 1395082 1395082 C A rs141819988 FOXF2 Synonymous SNV P441P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.11 328350 chr19 7676602 7676602 G C CAMSAP3 Nonsynonymous SNV S408T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 328351 chr6 7231366 7231366 G A rs778364141 RREB1 Nonsynonymous SNV V1012I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.201 328352 chr6 13228216 13228216 C T rs139729794 PHACTR1 Synonymous SNV Y293Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.14 328353 chr6 18139200 18139200 C T rs144041067 TPMT Nonsynonymous SNV R163H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328354 chr17 33289701 33289701 A G rs755981942 ZNF830 Synonymous SNV L372L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.431 328355 chr7 91851343 91851343 T G rs576080477 KRIT1 Nonsynonymous SNV K431T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328356 chr17 3749445 3749445 A G rs751453681 NCBP3 Nonsynonymous SNV S25P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 328357 chr17 38133206 38133206 G A rs770489930 GSDMA Synonymous SNV V411V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.681 328358 chr6 39893546 39893546 T A rs373489919 MOCS1 Nonsynonymous SNV K11N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.13 328359 chr17 39525693 39525693 G A rs772594659 KRT33B Stop gain Q104X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 328360 chr17 5336722 5336724 TCT - C1QBP E196del 0.001 0 0 0 1 0 0 0 0 0 0 0 328361 chr16 2106717 2106717 G A rs200943828 TSC2 Nonsynonymous SNV V41I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.43 328362 chr1 1147485 1147485 C T rs61761334 TNFRSF4 Synonymous SNV P157P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 11.11 328363 chr6 48036066 48036066 C T PTCHD4 Nonsynonymous SNV G109E 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 328364 chr17 41063338 41063338 C T rs780226142 G6PC Synonymous SNV Y323Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.66 328365 chr17 61554470 61554479 GGGCCGCCGG - ACE R8Gfs*134 0.001 0 0 0 1 0 0 0 0 0 0 0 328366 chr16 30709161 30709161 G A rs565913924 LOC730183 Stop gain R89X 0.001 0 0 0 1 0 0 0 0 0 0 0 6.618 328367 chr7 126410102 126410102 G A rs753150351 GRM8 Nonsynonymous SNV R187W 0.001 0 0 0 1 0 0 0 0 0 0 0 25 328368 chr6 83933552 83933552 G C rs748398096 ME1 Nonsynonymous SNV P459R 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 328369 chr16 3443802 3443802 C T ZSCAN32 Nonsynonymous SNV E127K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.92 328370 chr17 71361521 71361521 G A rs766849962 SDK2 Synonymous SNV P1727P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.67 328371 chr6 90403868 90403868 T A MDN1 Nonsynonymous SNV N3269I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.13 328372 chr17 72367956 72367956 G A rs201879156 GPR142 Synonymous SNV S114S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.162 328373 chr7 138602875 138602875 T G rs769434541 KIAA1549 Nonsynonymous SNV E499D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 328374 chr16 4862210 4862210 C T rs778551436 GLYR1 Nonsynonymous SNV V300I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 328375 chr6 100061461 100061461 G C rs780854003 PRDM13 Nonsynonymous SNV S317T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.39 328376 chr7 140301912 140301912 T C rs779836361 DENND2A Nonsynonymous SNV K96E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.458 328377 chr6 109770636 109770636 T C rs143348702 MICAL1 Nonsynonymous SNV N409D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 328378 chr17 59761132 59761132 G A rs587780830 BRIP1 Nonsynonymous SNV P1092L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.057 328379 chr16 57695688 57695688 A T rs775708467 ADGRG1 Nonsynonymous SNV M587L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.9 328380 chr17 61561332 61561332 G A rs371599063 ACE Nonsynonymous SNV R570Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.96 328381 chr7 143091950 143091950 A G rs764971738 EPHA1 Nonsynonymous SNV F768S 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328382 chr17 62290300 62290300 G A rs142061807 TEX2 Synonymous SNV F426F 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.639 328383 chr7 148876143 148876143 C A ZNF398 Synonymous SNV A393A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 328384 chr7 149473593 149473593 C T rs201271023 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 0.04 328385 chr6 127768021 127768021 G T rs199642157 KIAA0408 Nonsynonymous SNV H481Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 328386 chr17 651030 651030 G A rs146489979 GEMIN4 Nonsynonymous SNV P85S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 328387 chr17 65907935 65907935 A G rs374632412 BPTF Nonsynonymous SNV N1312S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 328388 chr17 76526572 76526572 T C rs201371597 DNAH17 Nonsynonymous SNV Y1046C 0.001 0 0 0 1 0 0 0 0 0 0 0 23 328389 chr17 77078092 77078092 G A rs200250575 ENGASE Nonsynonymous SNV V329M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 328390 chr7 151873293 151873293 G C rs61730545 KMT2C Nonsynonymous SNV P3082R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 328391 chr17 6945971 6945971 G A rs753353144 SLC16A11 Nonsynonymous SNV S153L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 328392 chr16 71683122 71683122 T C rs141456972 PHLPP2 Nonsynonymous SNV M1148V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.293 328393 chr6 143092472 143092472 G A HIVEP2 Nonsynonymous SNV P1135L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 328394 chr6 144769870 144769870 G T rs56347677 UTRN Nonsynonymous SNV K679N 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328395 chr1 161692480 161692480 C T rs200714126 FCRLB Synonymous SNV A6A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 328396 chr17 7286614 7286614 C G rs555095271 TNK1 Nonsynonymous SNV P70R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.327 328397 chr1 161816280 161816280 G A rs181923135 ATF6 Nonsynonymous SNV S410N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.749 328398 chr17 72937795 72937795 G A rs72844519 OTOP3 Synonymous SNV T109T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 328399 chr8 8865537 8865537 T C rs150186258 ERI1 Nonsynonymous SNV S56P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.55 328400 chr17 76498392 76498392 C T DNAH17-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.641 328401 chr17 76571121 76571121 C T rs61744339 DNAH17 Nonsynonymous SNV V7I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.892 328402 chr6 170592834 170592834 G A rs200599597 DLL1 Synonymous SNV Y511Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.041 328403 chr18 2688412 2688412 G A rs758139987 SMCHD1 Nonsynonymous SNV R220H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 328404 chr18 28934267 28934267 A G rs750155269 DSG1 Nonsynonymous SNV Y703C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 328405 chr17 79006655 79006655 A G BAIAP2-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.239 328406 chr17 79084731 79084731 C T BAIAP2 Nonsynonymous SNV A518V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 328407 chr18 29055921 29055921 A T DSG3 Nonsynonymous SNV T900S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 328408 chr1 183261947 183261947 C T rs369826550 NMNAT2 Nonsynonymous SNV V74I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 328409 chr18 32825770 32825770 A G rs184181920 ZNF397 Synonymous SNV K367K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.125 328410 chr17 79683879 79683879 C T rs193236167 SLC25A10 Nonsynonymous SNV R153C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 328411 chr16 961042 961042 C G rs199702457 LMF1 Synonymous SNV G75G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.249 328412 chr8 31497814 31497814 C T NRG1 Nonsynonymous SNV A105V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 328413 chr17 8093434 8093434 C T rs902041308 BORCS6 Nonsynonymous SNV G9R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.74 328414 chr8 38135893 38135893 C G rs370589580 NSD3 Synonymous SNV L1266L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.66 328415 chr8 38262026 38262026 T C rs150242123 LETM2 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 328416 chr1 20005468 20005468 C G rs756701522 HTR6 Stop gain Y310X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 328417 chr17 14005449 14005449 A G rs750384364 COX10 Nonsynonymous SNV T172A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 328418 chr17 1416764 1416764 G C rs750730645 INPP5K Nonsynonymous SNV P82A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 328419 chr8 75149464 75149464 T G JPH1 Synonymous SNV L660L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.381 328420 chr18 2891596 2891596 G A rs112602786 EMILIN2 Nonsynonymous SNV D491N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.603 328421 chr8 77761928 77761928 G C ZFHX4 Nonsynonymous SNV V1276L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 328422 chr17 1840637 1840637 T C rs779811649 RTN4RL1 Nonsynonymous SNV H160R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.22 328423 chr18 33836973 33836973 A T MOCOS Nonsynonymous SNV E736V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 328424 chr18 43577772 43577772 G A rs778538162 PSTPIP2 Synonymous SNV I195I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.145 328425 chr7 44806095 44806095 C T ZMIZ2 Nonsynonymous SNV P804S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.597 328426 chr18 8387085 8387085 C T rs746302735 PTPRM Nonsynonymous SNV R1341W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328427 chr8 107773413 107773413 A G rs916365791 ABRA Nonsynonymous SNV F333S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 328428 chr8 107773582 107773582 T C ABRA Nonsynonymous SNV T277A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 328429 chr1 214557219 214557219 G A rs528924376 PTPN14 Nonsynonymous SNV S660L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.8 328430 chr19 10673475 10673475 C T rs779777556 KRI1 Nonsynonymous SNV E105K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.47 328431 chr17 28030035 28030035 T G rs569513520 SSH2 Synonymous SNV L58L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 328432 chr1 22191415 22191415 G A rs749725739 HSPG2 Nonsynonymous SNV P1517L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 328433 chr18 72080133 72080133 T C rs7233143 LINC01922 0 0 0.007 0 0 0 0 2 0 0 1 0 1.088 328434 chr18 72080162 72080162 C T rs7235899 LINC01922 0 0 0.007 0 0 0 0 2 0 0 1 0 3.529 328435 chr18 72632560 72632560 C T rs773335741 ZNF407 Synonymous SNV Y1780Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 328436 chr18 72775606 72775606 G A rs780097085 ZNF407 Nonsynonymous SNV E1977K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 328437 chr17 34171615 34171615 A G rs758920002 TAF15 Nonsynonymous SNV S435G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.744 328438 chr1 226574110 226574110 C T rs774509517 PARP1 Nonsynonymous SNV E251K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 328439 chr19 14508726 14508726 G A rs752522386 ADGRE5 Synonymous SNV P173P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.04 328440 chr8 144657824 144657824 G A rs751269568 NAPRT Nonsynonymous SNV P158S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 328441 chr7 92734932 92734932 G A rs766059671 SAMD9 Nonsynonymous SNV T160I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 328442 chr17 37872846 37872846 C T rs780703792 ERBB2 Synonymous SNV T575T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 328443 chr19 15791101 15791101 T C rs762753912 CYP4F12 Nonsynonymous SNV W131R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 328444 chr17 38510607 38510607 G A rs370610393 RARA Synonymous SNV S190S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 328445 chr1 23285271 23285271 C T rs866141493 LACTBL1 Nonsynonymous SNV E187K 0 0.003 0 0 0 1 0 0 0 0 0 0 3.083 328446 chr17 39593734 39593734 C T rs140093590 KRT38 Nonsynonymous SNV R434H 0.001 0 0 0 1 0 0 0 0 0 0 0 17.46 328447 chr19 14045165 14045165 G C PODNL1 Nonsynonymous SNV R190G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 328448 chr19 19749117 19749117 G A GMIP Nonsynonymous SNV R214W 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328449 chr17 4443758 4443758 C G MYBBP1A Nonsynonymous SNV V1107L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.441 328450 chr19 18119233 18119233 G A ARRDC2 Synonymous SNV L38L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.875 328451 chr7 110763239 110763239 C T rs150007120 LRRN3 Synonymous SNV S137S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.361 328452 chr19 18197657 18197657 C T rs758417893 IL12RB1 Nonsynonymous SNV A33T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.801 328453 chr9 37495273 37495273 C T rs559249622 POLR1E Nonsynonymous SNV L219F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 328454 chr17 46608117 46608117 C T rs776471879 HOXB1 Synonymous SNV G50G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.533 328455 chr19 18260161 18260161 G A rs981897069 MAST3 Synonymous SNV P1185P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.671 328456 chr1 249149943 249149943 G C rs755028449 ZNF692 Nonsynonymous SNV Q243E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.016 328457 chr19 1912663 1912663 G A ADAT3 Nonsynonymous SNV R190Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.914 328458 chr1 2522436 2522436 A G rs976706505 MMEL1 Nonsynonymous SNV V778A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 328459 chr19 36636923 36636923 A T rs777474498 CAPNS1 Nonsynonymous SNV S79C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 328460 chr19 37399337 37399337 A C rs183392398 ZNF829 Nonsynonymous SNV S41A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.88 328461 chr7 134882881 134882881 G A rs200340926 WDR91 Nonsynonymous SNV T305M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 328462 chr19 2438528 2438528 C T rs372474156 LMNB2 Nonsynonymous SNV A135T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.8 328463 chr9 95870092 95870092 G A rs146233245 CARD19 Synonymous SNV A48A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.08 328464 chr1 32086541 32086541 G A rs767432563 HCRTR1 Nonsynonymous SNV R159Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 328465 chr1 33161159 33161159 C T rs138479784 SYNC Synonymous SNV Q180Q 0 0.003 0 0 0 1 0 0 0 0 0 0 11.62 328466 chr1 3407112 3407112 C T rs57484147 MEGF6 Nonsynonymous SNV G1536S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.609 328467 chr17 61619688 61619688 G A rs148146561 KCNH6 Nonsynonymous SNV D681N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328468 chr17 61784731 61784731 T C rs753694353 STRADA Nonsynonymous SNV Y173C 0.001 0 0 0 1 0 0 0 0 0 0 0 14.38 328469 chr9 104239253 104239253 A - rs752699157 PGAP4 L41Rfs*18 0.001 0 0 0 1 0 0 0 0 0 0 0 328470 chr1 3412465 3412465 C T rs57804877 MEGF6 Nonsynonymous SNV R1287H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.28 328471 chr1 3416388 3416388 G A rs61998191 MEGF6 Synonymous SNV A936A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.01 328472 chr1 3422032 3422032 G A rs183577024 MEGF6 Synonymous SNV G669G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.2 328473 chr7 143208148 143208148 T G rs540452849 OR10AC1 Nonsynonymous SNV T286P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 328474 chr19 36278096 36278096 C - ARHGAP33 P742Lfs*79 0 0 0.003 0 0 0 0 1 0 0 0 0 328475 chr7 148963779 148963779 G T rs753716970 ZNF783 Nonsynonymous SNV W126C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 328476 chr7 149474279 149474279 C A SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 4.236 328477 chr19 36592986 36592986 C G rs765414615 WDR62 Synonymous SNV P1051P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.73 328478 chr7 149494405 149494405 G A rs772002643 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 0.804 328479 chr19 37038121 37038121 G A ZNF529 Stop gain Q429X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 328480 chr1 43393446 43393446 C T rs751573593 SLC2A1 Nonsynonymous SNV V370M 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 30 328481 chr9 114521507 114521507 G T SHOC1 Nonsynonymous SNV P21Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.926 328482 chr1 46087967 46087967 G T CCDC17 Nonsynonymous SNV R305S 0.001 0 0 0 1 0 0 0 0 0 0 0 28 328483 chr1 46087968 46087968 C A CCDC17 Synonymous SNV R304R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.39 328484 chr17 695094 695094 C T rs146455824 MRM3 Nonsynonymous SNV P154S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.4 328485 chr9 115759797 115759797 C T rs201402217 ZNF883 Nonsynonymous SNV R248Q 0.001 0 0.003 0 1 0 0 1 0 0 0 0 9.149 328486 chr17 71197937 71197937 T C rs749440036 COG1 Synonymous SNV T657T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.329 328487 chr9 116327634 116327634 A G rs955819159 RGS3 Synonymous SNV L16L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 328488 chr7 154738153 154738154 AG - rs779120651 PAXIP1-AS2 0.001 0 0 0 1 0 0 0 0 0 0 0 328489 chr1 44877999 44877999 G A RNF220 Nonsynonymous SNV G77D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 328490 chr8 1497567 1497567 C T rs371238675 DLGAP2 Synonymous SNV N316N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.364 328491 chr19 40741914 40741914 T C AKT2 Nonsynonymous SNV Q310R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 328492 chr19 41810023 41810023 C T rs752931436 HNRNPUL1 Nonsynonymous SNV P618S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.79 328493 chr1 52237781 52237781 G A rs142127100 OSBPL9 Synonymous SNV S148S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.25 328494 chr17 73518383 73518383 G A rs989636802 TSEN54 Synonymous SNV P407P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.589 328495 chr19 42753752 42753757 GAAGAT - rs749503353 ERF S95_S96del 0 0 0.003 0 0 0 0 1 0 0 0 0 328496 chr17 74014222 74014222 C G EVPL Synonymous SNV G519G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.209 328497 chr1 53930354 53930354 G A rs775817795 DMRTB1 Synonymous SNV P265P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.734 328498 chr9 126439023 126439023 C T rs765551547 DENND1A Synonymous SNV L84L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.14 328499 chr9 127644127 127644127 C T rs536815126 GOLGA1 Nonsynonymous SNV R691H 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 328500 chr9 130263384 130263384 G A rs778980908 LRSAM1 Nonsynonymous SNV V670M 0.001 0 0 0 1 0 0 0 0 0 0 0 17.41 328501 chr17 7486323 7486323 C T LOC100996842 Nonsynonymous SNV G101R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.442 328502 chr17 76134534 76134534 A C rs958249791 TMC8 Synonymous SNV A546A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.875 328503 chr17 76423027 76423027 C T DNAH17 Nonsynonymous SNV E4251K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328504 chr9 132382421 132382421 C T rs904304018 C9orf50 Nonsynonymous SNV E145K 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328505 chr9 133738189 133738189 G A rs150134901 ABL1 Nonsynonymous SNV E197K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328506 chr19 46307917 46307917 T C RSPH6A Nonsynonymous SNV K416E 0 0 0.007 0 0 0 0 2 0 0 1 0 22.6 328507 chr17 77768955 77768955 C T rs144276670 CBX8 Nonsynonymous SNV E217K 0.001 0 0 0 1 0 0 0 0 0 0 0 19.42 328508 chr19 49898431 49898431 C T rs201890660 CCDC155 Nonsynonymous SNV R73C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 328509 chr19 48255803 48255803 C T rs759894596 NOP53 Nonsynonymous SNV A235V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 328510 chr8 26722043 26722043 G C ADRA1A Synonymous SNV L148L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.207 328511 chr9 136522356 136522356 G A rs201504077 DBH-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 7.786 328512 chr19 48789655 48789655 A T rs201498526 ZNF114 Nonsynonymous SNV R258S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.032 328513 chr17 79164804 79164804 G A rs773523503 CEP131 Nonsynonymous SNV S913L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.09 328514 chr9 137313523 137313523 C T rs2234960 RXRA Nonsynonymous SNV P164L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328515 chr8 37888114 37888114 G A rs960843663 EIF4EBP1 Nonsynonymous SNV S8N 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 328516 chr9 139276726 139276726 C T rs529487034 SNAPC4 Synonymous SNV T682T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 328517 chr19 50360046 50360046 C A rs10418141 PTOV1-AS2 0 0 0.007 0 0 0 0 2 0 0 1 0 1.056 328518 chr19 50728842 50728842 G A MYH14 Nonsynonymous SNV G232S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 328519 chr19 5244108 5244108 G A rs147314718 PTPRS Synonymous SNV R445R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.611 328520 chr19 51385548 51385548 G T rs198963 KLKP1 0 0 0.007 0 0 0 0 2 0 0 1 0 2.137 328521 chr9 140446920 140446920 G A MRPL41 Synonymous SNV Q129Q 0.001 0 0 0 1 0 0 0 0 0 0 0 5.184 328522 chr8 82439281 82439281 T G FABP12 Nonsynonymous SNV K108Q 0.001 0 0 0 1 0 0 0 0 0 0 0 16 328523 chr8 86035802 86035802 C T LRRCC1 Nonsynonymous SNV T63I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 328524 chr19 51850215 51850215 G C ETFB Nonsynonymous SNV A270G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 328525 chr18 19371419 19371419 G A rs143937436 MIB1 Synonymous SNV S331S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 328526 chr20 10637095 10637095 G C JAG1 Nonsynonymous SNV Q236E 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 328527 chr10 8051194 8051194 G T rs757780971 TAF3 Synonymous SNV A823A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.198 328528 chr20 13765719 13765719 T A NDUFAF5 Nonsynonymous SNV L2Q 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 328529 chr20 2384235 2384235 C T rs201326247 TGM6 Nonsynonymous SNV R368W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 29 328530 chr20 20610149 20610149 C T rs556194705 RALGAPA2 Nonsynonymous SNV S364N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 328531 chr20 2945736 2945736 T G rs202217737 PTPRA Nonsynonymous SNV I101M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.253 328532 chr18 44660924 44660924 G A rs143514214 HDHD2 Nonsynonymous SNV R85W 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 328533 chr20 23433421 23433421 G C CST11 Nonsynonymous SNV Q10E 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.001 328534 chr20 25011559 25011559 G A rs749513175 ACSS1 Nonsynonymous SNV T35M 0.001 0.003 0 0 1 1 0 0 0 0 0 0 19.88 328535 chr20 25459716 25459716 G A rs745875017 NINL Nonsynonymous SNV L682F 0.001 0.003 0 0 1 1 0 0 0 0 0 0 23.4 328536 chr10 32872043 32872043 G C rs774767356 CCDC7 Nonsynonymous SNV E512D 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 328537 chr8 142446012 142446012 C T rs749624921 MROH5 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 328538 chr19 581568 581568 G A rs139776734 BSG Nonsynonymous SNV R169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 328539 chr19 58927197 58927197 T C rs775858618 ZNF584 Nonsynonymous SNV S94P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.551 328540 chr8 145158631 145158631 G A SHARPIN Nonsynonymous SNV A9V 0.001 0 0 0 1 0 0 0 0 0 0 0 17.89 328541 chr19 57909975 57909975 C T rs752589052 ZNF548 Nonsynonymous SNV P107L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.378 328542 chr19 58213007 58213007 C T rs142884205 ZNF154 Nonsynonymous SNV R437Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 328543 chr19 5852599 5852599 C T rs10406157 LOC101928844 0 0 0.003 0 0 0 0 1 0 0 0 0 6.773 328544 chr8 145726653 145726653 A G rs368857055 PPP1R16A Synonymous SNV A393A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.523 328545 chr19 58805993 58805993 C T rs142154798 ZNF8 Synonymous SNV T273T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 328546 chr19 58951133 58951133 G A rs370978905 ZNF132 Nonsynonymous SNV P19L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 328547 chr20 47865512 47865512 T C ZNFX1 Nonsynonymous SNV K1350R 0 0.003 0 0 0 1 0 0 0 0 0 0 25 328548 chr10 73490289 73490289 C T rs758254641 CDH23 Nonsynonymous SNV R1215C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328549 chr10 75834503 75834503 A G rs144683137 VCL Nonsynonymous SNV M209V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 328550 chr19 14865921 14865921 T A rs112007450 ADGRE2 Stop gain K479X 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 328551 chr9 35750902 35750902 G A rs750564651 RGP1 Nonsynonymous SNV V135I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328552 chr20 61939982 61939982 G A rs200002318 COL20A1 Synonymous SNV T288T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.908 328553 chr10 99131887 99131887 C T rs138207678 RRP12 Synonymous SNV P662P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.01 328554 chr1 109268410 109268410 C G rs759147639 FNDC7 Nonsynonymous SNV P299A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328555 chr9 91961936 91961936 G A rs147452931 SECISBP2 Synonymous SNV K456K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.03 328556 chr1 109544940 109544940 G A rs761468913 WDR47 Nonsynonymous SNV R455W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 328557 chr1 109740233 109740233 C T rs547050373 KIAA1324 Synonymous SNV A415A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 328558 chr9 95381797 95381797 A C rs778056673 IPPK Nonsynonymous SNV I407M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 328559 chr1 109806964 109806964 C T rs115968305 CELSR2 Nonsynonymous SNV R1756C 0.001 0 0 0 1 0 0 0 0 0 0 0 31 328560 chr1 100680440 100680440 C T rs775808731 DBT Nonsynonymous SNV R291Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328561 chr10 104592810 104592810 G A rs563749393 CYP17A1 Synonymous SNV G303G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.92 328562 chr10 105207130 105207130 A G rs925694493 CALHM2 Nonsynonymous SNV F251L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 328563 chr10 105207175 105207175 C T rs771983083 CALHM2 Nonsynonymous SNV E236K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 328564 chr10 105659916 105659916 C T rs145781517 STN1 Nonsynonymous SNV E121K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.52 328565 chr1 114367793 114367793 C T rs140698521 PTPN22 Nonsynonymous SNV S696N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 328566 chr19 18368681 18368681 C T rs61740688 IQCN Nonsynonymous SNV R1138Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.173 328567 chr1 1147462 1147462 A G rs150407012 TNFRSF4 Nonsynonymous SNV I165T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.04 328568 chr9 107331905 107331905 C T OR13C8 Nonsynonymous SNV L153F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328569 chr19 18375783 18375783 C T rs61733990 IQCN Nonsynonymous SNV R856H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 328570 chr1 115268914 115268914 A G rs771834381 CSDE1 Synonymous SNV L489L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.797 328571 chr1 117487377 117487377 C T rs759625434 PTGFRN Synonymous SNV F165F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 328572 chr21 44275863 44275863 T C rs749371315 WDR4 Nonsynonymous SNV R219G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.69 328573 chr1 111861114 111861114 G A rs144676218 CHIA 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 328574 chr19 19042348 19042348 C T rs139883016 HOMER3 Synonymous SNV Q223Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.276 328575 chr21 45494969 45494969 A T rs754325294 TRAPPC10 Nonsynonymous SNV N412I 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 328576 chr10 118425232 118425232 C T rs201875477 C10orf82 Nonsynonymous SNV R54Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.59 328577 chr1 12819398 12819398 G A C1orf158 Synonymous SNV E89E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.758 328578 chr9 117656389 117656389 T C TNFSF8 Synonymous SNV G155G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.196 328579 chr22 18609711 18609711 C T rs372566835 TUBA8 Synonymous SNV D256D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.85 328580 chr10 124909558 124909558 C T rs781608041 HMX2 Synonymous SNV A247A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.84 328581 chr22 19349436 19349436 A G rs369009612 HIRA Synonymous SNV L598L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.557 328582 chr1 151239783 151239783 C T rs140075955 PSMD4 Synonymous SNV D369D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 328583 chr1 154832170 154832170 C G rs753646576 KCNN3 0 0 0.003 0 0 0 0 1 0 0 0 0 1.811 328584 chr19 36369824 36369824 C A APLP1 Nonsynonymous SNV F561L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.4 328585 chr10 135168934 135168934 C T rs372410658 FUOM Synonymous SNV T112T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 328586 chr1 156145373 156145373 G A rs184592535 SEMA4A Nonsynonymous SNV R408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 328587 chr19 37428125 37428125 G A ZNF568 Nonsynonymous SNV M49I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.26 328588 chr1 153580060 153580060 C A rs201004264 S100A16 Nonsynonymous SNV G88C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.99 328589 chr1 156268806 156268806 A G VHLL Nonsynonymous SNV C59R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.985 328590 chr22 21288454 21288454 A T rs936484318 CRKL Synonymous SNV T233T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.012 328591 chr11 377131 377131 C T B4GALNT4 Nonsynonymous SNV P670S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.21 328592 chr19 37676173 37676173 C T rs772866995 ZNF585B Nonsynonymous SNV V756I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 328593 chr1 155159991 155159991 G A rs375090196 MUC1 Nonsynonymous SNV R99C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.92 328594 chr1 155160859 155160859 G A rs746421166 MUC1 Nonsynonymous SNV T434I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 328595 chr1 157497650 157497650 G A rs767516344 FCRL5 Nonsynonymous SNV P573S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.59 328596 chr22 31519092 31519092 G A rs776805536 INPP5J Nonsynonymous SNV G31E 0 0.003 0 0 0 1 0 0 0 0 0 0 11.32 328597 chr1 162825519 162825521 AAG - rs752668355 CCDC190 S72del 0 0 0.003 0 0 0 0 1 0 0 0 0 328598 chr19 4090622 4090622 C T rs755887476 MAP2K2 Nonsynonymous SNV G393S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.37 328599 chr9 139100765 139100765 G C rs749129885 QSOX2 Nonsynonymous SNV L636V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.183 328600 chr1 159024663 159024663 T C rs1052876138 IFI16 Nonsynonymous SNV M721T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.15 328601 chr1 168165865 168165865 G A rs780995909 TIPRL Synonymous SNV T199T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 328602 chr10 12077085 12077085 T C rs375002070 UPF2 Nonsynonymous SNV Q113R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.43 328603 chr10 12162789 12162789 C A rs143212640 DHTKD1 Nonsynonymous SNV R888S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.1 328604 chr22 45221425 45221425 C T rs376772948 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV P183L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328605 chr10 24833301 24833301 C G rs777777788 KIAA1217 Nonsynonymous SNV A1701G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 328606 chr10 27337816 27337816 A G rs200379534 ANKRD26 Synonymous SNV D576D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.6 328607 chr10 27529618 27529618 G A ACBD5 Nonsynonymous SNV H11Y 0.001 0 0 0 1 0 0 0 0 0 0 0 19.36 328608 chr1 19184074 19184074 C T rs139094182 TAS1R2 Synonymous SNV A78A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.12 328609 chr1 204159785 204159785 G T rs758886602 KISS1 Nonsynonymous SNV Q82K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.31 328610 chr10 45799195 45799195 T C rs73281136 OR13A1 Nonsynonymous SNV I226V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328611 chr19 49362740 49362740 C T rs200542935 PLEKHA4 Synonymous SNV R226R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.49 328612 chr2 124783245 124783245 G A rs776661191 CNTNAP5 Synonymous SNV R6R 0.001 0 0 0 1 0 0 0 0 0 0 0 12.25 328613 chr1 197115352 197115352 C G rs777341980 ASPM Nonsynonymous SNV E72D 0.001 0 0 0 1 0 0 0 0 0 0 0 3.748 328614 chr19 49868837 49868837 C T rs141709326 DKKL1 Synonymous SNV Y85Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.21 328615 chr1 20654413 20654413 A C rs542177831 VWA5B1 Nonsynonymous SNV M392L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.977 328616 chr10 47087692 47087692 C G rs138885771 NPY4R, NPY4R2 Nonsynonymous SNV I303M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 328617 chr10 49658336 49658336 G T rs113502653 ARHGAP22 Synonymous SNV R522R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.05 328618 chr10 50028283 50028283 T C rs116028694 WDFY4 Nonsynonymous SNV V1837A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 328619 chr10 50669468 50669468 G A rs371533699 ERCC6 Synonymous SNV L1305L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 13.65 328620 chr1 212560375 212560375 C T PACC1 Synonymous SNV S67S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.41 328621 chr10 61832342 61832342 T C rs756312579 ANK3 Nonsynonymous SNV K2766R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328622 chr1 205272684 205272684 C T NUAK2 Nonsynonymous SNV R594H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 328623 chr10 69692463 69692463 G A HERC4 Nonsynonymous SNV A655V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328624 chr10 69905277 69905277 T C rs557963282 MYPN Nonsynonymous SNV M375T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.77 328625 chr19 5212449 5212449 C T rs115646246 PTPRS Synonymous SNV P1109P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.28 328626 chr1 223971831 223971831 G A TP53BP2 Nonsynonymous SNV R1117C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 328627 chr1 225580005 225580005 C T rs61739997 DNAH14 Nonsynonymous SNV A4448V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 328628 chr19 53409821 53409821 T C ZNF888 Nonsynonymous SNV K585R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.704 328629 chr1 209800217 209800217 C A rs886045865 LAMB3 Nonsynonymous SNV C531F 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 328630 chr10 88730322 88730322 - TCGGCCTCCTGAAATGACAGCAGGGAGACTTGGG ADIRF Stop gain F72_G73delinsFGLLKX 0.001 0 0 0 1 0 0 0 0 0 0 0 328631 chr2 179247977 179247977 G A rs200622460 OSBPL6 Synonymous SNV S585S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.64 328632 chr10 90582718 90582718 T G rs766935936 ANKRD22 Nonsynonymous SNV M186L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 328633 chr11 17544427 17544427 C T rs763948115 USH1C Nonsynonymous SNV R289Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22 328634 chr2 176944856 176944856 G C rs201835366 EVX2 Nonsynonymous SNV D470E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.57 328635 chr2 179544349 179544349 T G TTN Nonsynonymous SNV K9970T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.28 328636 chr1 24082513 24082513 - GT rs764632760 ELOA Frameshift insertion R685Afs*94 0 0 0.003 0 0 0 0 1 0 0 0 0 328637 chr2 166536138 166536138 T C rs1021572194 CSRNP3 Nonsynonymous SNV S545P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.32 328638 chr1 24447468 24447468 G A rs3795299 IL22RA1 Nonsynonymous SNV R518C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 328639 chr11 34181862 34181862 G A ABTB2 Synonymous SNV T812T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.8 328640 chr10 101610499 101610499 A G rs780026074 ABCC2 Nonsynonymous SNV H1485R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.3 328641 chr19 56424107 56424107 A G rs971582477 NLRP13 Nonsynonymous SNV L359S 0.001 0 0 0 1 0 0 0 0 0 0 0 24 328642 chr2 179404623 179404623 T G rs753058072 TTN Nonsynonymous SNV R23658S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16 328643 chr1 228511127 228511127 C T rs199501426 OBSCN Nonsynonymous SNV R5158C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 328644 chr2 190430179 190430179 C T rs752593581 SLC40A1 Nonsynonymous SNV V221I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.53 328645 chr11 46911911 46911911 C T rs140282454 LRP4 Nonsynonymous SNV R611H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 328646 chr19 57802332 57802332 G A rs140169065 ZNF460 Synonymous SNV Q100Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.33 328647 chr2 202245649 202245649 A G TRAK2 Nonsynonymous SNV S788P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.7 328648 chr10 116602761 116602761 G C FAM160B1 Nonsynonymous SNV D198H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 328649 chr19 58470027 58470027 T C rs768185317 C19orf18 Synonymous SNV S197S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.229 328650 chr1 2491367 2491367 C T TNFRSF14 Nonsynonymous SNV A137V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 328651 chr1 26311014 26311014 A G PAFAH2 Nonsynonymous SNV L116S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 328652 chr19 623587 623587 T C POLRMT Nonsynonymous SNV Y386C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328653 chr1 28907611 28907613 CAT - rs759154126 SNHG12 0 0 0.003 0 0 0 0 1 0 0 0 0 328654 chr10 126694373 126694373 C T rs996465477 CTBP2 Nonsynonymous SNV R2K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.135 328655 chr10 126715598 126715598 C T CTBP2 Nonsynonymous SNV G244D 0.001 0 0 0 1 0 0 0 0 0 0 0 4.758 328656 chr10 128795051 128795051 G T DOCK1 Synonymous SNV G171G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.02 328657 chr1 24388465 24388465 C T rs182345655 MYOM3 Nonsynonymous SNV R1302Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 328658 chr1 33147431 33147431 A G rs767011909 SYNC Synonymous SNV C463C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 328659 chr1 35370849 35370849 G A rs748139786 DLGAP3 Nonsynonymous SNV R46C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 328660 chr1 36379836 36379836 C T AGO1 Synonymous SNV H523H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 328661 chr1 39920626 39920626 T C rs200312184 MACF1 Synonymous SNV L4919L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.475 328662 chr2 220167391 220167391 C T rs574765067 PTPRN Synonymous SNV P182P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.24 328663 chr20 47782626 47782626 G A STAU1 Nonsynonymous SNV T38I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 328664 chr2 220420907 220420907 G A OBSL1 Nonsynonymous SNV R1482C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 328665 chr10 135184226 135184227 CT - rs746519257 ECHS1 G42Efs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 328666 chr1 43316847 43316847 C T rs377049241 ZNF691 Nonsynonymous SNV A73V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 328667 chr1 46641956 46641956 A G rs950196378 LOC110117498-PIK3R3, P3R3URF Nonsynonymous SNV M63T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.163 328668 chr1 47515175 47515175 A T rs767359529 CYP4X1 Nonsynonymous SNV R451W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 328669 chr2 233399919 233399919 G A CHRND Nonsynonymous SNV G290D 0.001 0 0 0 1 0 0 0 0 0 0 0 31 328670 chr19 9090067 9090067 T C rs200314523 MUC16 Nonsynonymous SNV E583G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.218 328671 chr1 31840291 31840291 G A rs112010219 FABP3 Synonymous SNV D110D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.54 328672 chr1 61553905 61553905 C T NFIA Stop gain R38X 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 38 328673 chr1 10384871 10384871 A C rs140015591 KIF1B Nonsynonymous SNV S819R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.172 328674 chr1 64021045 64021045 G C EFCAB7 Nonsynonymous SNV G358A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 328675 chr1 110596504 110596504 G C rs148203764 STRIP1 Nonsynonymous SNV K733N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.45 328676 chr2 233659518 233659518 T C rs779260579 GIGYF2 Nonsynonymous SNV L442P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 328677 chr1 43917924 43917924 C T rs746353743 HYI Synonymous SNV E126E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 328678 chr1 44056950 44056950 C T rs765580388 PTPRF Synonymous SNV R419R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.09 328679 chr1 79383694 79383694 A C rs908076426 ADGRL4 Nonsynonymous SNV F501L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.64 328680 chr1 46810559 46810559 G T rs370996941 NSUN4 Nonsynonymous SNV W11C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 328681 chr11 64030277 64030277 C T PLCB3 Synonymous SNV P717P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 328682 chr1 52863445 52863445 C T rs143141689 ORC1 Nonsynonymous SNV R105Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 32 328683 chr1 9063363 9063363 A C SLC2A7 Nonsynonymous SNV F512C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 328684 chr11 5009466 5009466 A G MMP26 Nonsynonymous SNV T9A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 328685 chr1 54649890 54649890 C T rs200532945 CYB5RL Nonsynonymous SNV G83R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328686 chr11 64706008 64706008 T C rs187236670 MAJIN Nonsynonymous SNV S174G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 328687 chr1 144917536 144917536 A G PDE4DIP Nonsynonymous SNV L686P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 328688 chr1 57373745 57373745 G A rs149764808 C8A Nonsynonymous SNV G447R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 328689 chr11 65482148 65482148 T C rs368796194 KAT5 Synonymous SNV P239P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 328690 chr1 1470760 1470760 G C TMEM240 Nonsynonymous SNV H167Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 328691 chr20 16360334 16360334 C G KIF16B Nonsynonymous SNV E771D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 328692 chr1 62908887 62908887 T C rs773662752 USP1 Synonymous SNV L152L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.347 328693 chr20 17602378 17602378 G A rs763642782 RRBP1 Nonsynonymous SNV P1094L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.89 328694 chr2 46739702 46739702 C T rs778583536 ATP6V1E2 Nonsynonymous SNV R50Q 0 0.003 0 0 0 1 0 0 0 0 0 0 34 328695 chr20 18168038 18168038 G C KAT14 Nonsynonymous SNV D762H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 328696 chr1 64059173 64059173 T C PGM1 Nonsynonymous SNV V5A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.14 328697 chr20 21689921 21689926 ACCAGC - PAX1 Q375_H376del 0 0 0.003 0 0 0 0 1 0 0 0 0 328698 chr1 6610574 6610574 G T rs181396499 NOL9 Nonsynonymous SNV F166L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328699 chr1 70644666 70644666 A G rs373673198 LRRC40 Synonymous SNV H224H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.046 328700 chr1 154407606 154407606 C T rs201340163 IL6R Nonsynonymous SNV R261W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 328701 chr2 42931456 42931456 A G rs767485847 MTA3 Nonsynonymous SNV Y319C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 328702 chr20 30618885 30618885 T C CCM2L Nonsynonymous SNV I495T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 328703 chr20 31506216 31506216 C G rs201118528 EFCAB8 Nonsynonymous SNV P704A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 328704 chr2 74588717 74588717 G A rs72466496 DCTN1 Nonsynonymous SNV T1110I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 21.1 328705 chr2 74710514 74710514 G T rs185669877 TTC31 Nonsynonymous SNV G36C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 328706 chr1 86591602 86591602 A G rs763709470 COL24A1 Synonymous SNV P139P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.895 328707 chr20 3674335 3674335 C T SIGLEC1 Synonymous SNV V1089V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.8 328708 chr1 89654304 89654304 A G rs778786954 GBP4 Synonymous SNV V457V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.347 328709 chr2 85598575 85598575 G A ELMOD3 Nonsynonymous SNV S166N 0 0.003 0 0 0 1 0 0 0 0 0 0 11.12 328710 chr11 86157489 86157489 A T ME3 Nonsynonymous SNV V474E 0.001 0 0 0 1 0 0 0 0 0 0 0 31 328711 chr20 37252007 37252007 G A rs144233895 ARHGAP40 Nonsynonymous SNV G48D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 328712 chr11 92568195 92568195 A T rs768890249 FAT3 Nonsynonymous SNV D3344V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 328713 chr11 14665671 14665671 C T PDE3B Nonsynonymous SNV P17L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 328714 chr1 93341897 93341897 T C rs140918101 DIPK1A Nonsynonymous SNV T49A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.46 328715 chr1 93580597 93580597 A G rs147067401 MTF2 Synonymous SNV S43S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.254 328716 chr11 102573700 102573700 C T rs143933929 MMP27 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 328717 chr11 103006287 103006287 C T rs540759105 DYNC2H1 Synonymous SNV L757L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.49 328718 chr20 51870996 51870996 C T rs138194448 TSHZ2 Synonymous SNV P330P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.734 328719 chr11 108010933 108010933 A G rs752592672 ACAT1 Nonsynonymous SNV T241A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.53 328720 chr11 30034000 30034000 G C rs202168576 KCNA4 Nonsynonymous SNV P76A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 328721 chr20 56139562 56139562 C T rs149472972 PCK1 Nonsynonymous SNV S404L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 328722 chr3 113664322 113664322 C G rs146296310 GRAMD1C Nonsynonymous SNV S457R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 328723 chr11 48149512 48149512 G A rs151256577 PTPRJ Nonsynonymous SNV R425H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 328724 chr11 119206887 119206887 G A RNF26 Nonsynonymous SNV G352D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.95 328725 chr1 17668536 17668536 G A rs200893896 PADI4 Nonsynonymous SNV V251M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 328726 chr3 125725261 125725261 T C rs774373385 SLC41A3 Nonsynonymous SNV T469A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.833 328727 chr20 62328428 62328428 G A rs140998392 TNFRSF6B Nonsynonymous SNV R103Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.796 328728 chr20 30432478 30432478 G A rs771005189 FOXS1 Nonsynonymous SNV P290S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 328729 chr20 62384084 62384084 G A rs146626004 ZBTB46 Synonymous SNV C451C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 328730 chr3 126070942 126070942 G A rs372180538 KLF15 Nonsynonymous SNV P275L 0 0.003 0 0 0 1 0 0 0 0 0 0 22 328731 chr1 182821413 182821413 A C rs770201412 DHX9 Nonsynonymous SNV N100H 0.001 0 0 0 1 0 0 0 0 0 0 0 5.106 328732 chr21 15599508 15599508 G A rs767760971 RBM11 Nonsynonymous SNV R254Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 328733 chr3 128629173 128629176 CTGA - rs138427818 KIAA1257 V803Gfs*87 0 0.003 0 0 0 1 0 0 0 0 0 0 328734 chr20 32664566 32664566 C T rs201400048 RALY Synonymous SNV I185I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 328735 chr1 184446658 184446658 C T rs148612527 C1orf21 Synonymous SNV S5S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.53 328736 chr11 124744793 124744793 G C rs370172611 ROBO3 Nonsynonymous SNV Q687H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.6 328737 chr20 33501948 33501948 C T rs769910327 ACSS2 Synonymous SNV D231D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.63 328738 chr11 125769287 125769287 A G rs145001537 HYLS1 Synonymous SNV G8G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.005 328739 chr20 36767865 36767865 C T rs200013031 TGM2 Nonsynonymous SNV V350M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 328740 chr1 19467385 19467385 G A rs754058753 UBR4 Synonymous SNV G2830G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.938 328741 chr12 2797760 2797760 G A rs765320988 CACNA1C Nonsynonymous SNV E1986K 0.001 0 0 0 1 0 0 0 0 0 0 0 16.8 328742 chr21 43802192 43802192 C T rs745895791 TMPRSS3 Nonsynonymous SNV G185R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 328743 chr20 47682812 47682812 A G rs770505854 CSE1L Synonymous SNV P104P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.474 328744 chr21 43867262 43867262 G A rs372395280 UBASH3A Synonymous SNV A610A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.106 328745 chr21 44742350 44742350 C T rs55956145 LINC00322 0 0 0.003 0 0 0 0 1 0 0 0 0 1.856 328746 chr21 45107635 45107635 C T rs143871484 RRP1B Synonymous SNV S460S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 328747 chr3 151075054 151075054 C T MED12L Synonymous SNV S870S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 328748 chr3 15116372 15116372 G A RBSN Synonymous SNV N424N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.059 328749 chr20 55033645 55033645 C T rs150842021 CASS4 Nonsynonymous SNV R298C 0.002 0 0 0 2 0 0 0 0 0 0 0 8.207 328750 chr20 55953125 55953125 C T rs188116547 RAE1 Synonymous SNV A359A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.74 328751 chr21 47662666 47662666 G C rs571064918 MCM3AP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.607 328752 chr21 47775481 47775481 G A rs201507947 PCNT Nonsynonymous SNV V508I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.217 328753 chr1 208215573 208215573 C G PLXNA2 Nonsynonymous SNV V1386L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328754 chr3 183754683 183754683 A G HTR3D Nonsynonymous SNV H172R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.24 328755 chr20 62195538 62195538 G A rs116364411 HELZ2 Nonsynonymous SNV T977M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 328756 chr3 184157217 184157217 G A rs771635306 LINC02054 0 0.003 0 0 0 1 0 0 0 0 0 0 0.779 328757 chr1 214815269 214815269 T C CENPF Synonymous SNV L1196L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.321 328758 chr3 186435504 186435504 G A rs781268489 KNG1 Nonsynonymous SNV R58H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 328759 chr3 186504166 186504166 A - SNORA63B 0.001 0 0 0 1 0 0 0 0 0 0 0 328760 chr3 188326969 188326969 C G rs138526352 LPP Synonymous SNV A150A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.71 328761 chr21 27423413 27423413 G A APP Synonymous SNV L133L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 328762 chr3 193007675 193007675 T G rs762849159 ATP13A5 Nonsynonymous SNV S1008R 0 0.003 0 0 0 1 0 0 0 0 0 0 18.87 328763 chr12 32735401 32735401 G T FGD4 Nonsynonymous SNV K107N 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 328764 chr1 226110009 226110009 C T PYCR2 Synonymous SNV K71K 0.001 0 0 0 1 0 0 0 0 0 0 0 14.98 328765 chr22 37325683 37325683 C T rs765484350 CSF2RB Synonymous SNV D184D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 328766 chr12 48251387 48251387 C T rs200765991 VDR Nonsynonymous SNV R121Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 328767 chr11 64597338 64597338 C T rs866963927 CDC42BPG Nonsynonymous SNV R1191H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 328768 chr22 38468617 38468617 G A rs202006345 PICK1 Synonymous SNV P230P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 328769 chr22 40140181 40140181 C T rs116668695 ENTHD1 Nonsynonymous SNV G443R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.311 328770 chr3 38316611 38316611 G A rs757245026 SLC22A13 Nonsynonymous SNV G257S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 328771 chr22 40161257 40161257 T C rs758816646 ENTHD1 Nonsynonymous SNV D397G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.27 328772 chr12 50348425 50348425 G A rs147039983 AQP2 Nonsynonymous SNV G180S 0.001 0 0 0 1 0 0 0 0 0 0 0 32 328773 chr22 42473673 42473673 C T rs763950306 PHETA2 Synonymous SNV L126L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 328774 chr21 45502958 45502958 G C rs141930416 TRAPPC10 Nonsynonymous SNV L204F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328775 chr21 46893850 46893850 G A rs149772252 COL18A1 Synonymous SNV V411V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.906 328776 chr11 68031159 68031159 C A C11orf24 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 328777 chr22 49288569 49288569 T A rs28479102 LINC01310 0 0 0.007 0 0 0 0 2 0 0 1 0 6.158 328778 chr21 47918597 47918597 G A rs777443649 DIP2A Nonsynonymous SNV R169Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 328779 chr3 48647050 48647050 C T UQCRC1 Nonsynonymous SNV A2T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.1 328780 chr2 108969036 108969036 C T rs56251406 SULT1C2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.989 328781 chr22 23230423 23230423 C T rs144275260 IGLL5 Nonsynonymous SNV R64W 0.001 0 0 0 1 0 0 0 0 0 0 0 15.94 328782 chr12 57629360 57629360 G A rs139105980 NDUFA4L2 Nonsynonymous SNV R84W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 328783 chr22 24095077 24095078 CG - rs768765456 VPREB3 Stop gain Y119* 0.001 0 0 0 1 0 0 0 0 0 0 0 328784 chr12 71016226 71016226 T C rs111592755 PTPRB Nonsynonymous SNV T218A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.803 328785 chr1 29185773 29185773 G A rs989076216 OPRD1 Nonsynonymous SNV V179I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.816 328786 chr22 31723246 31723246 A G PATZ1 Synonymous SNV Y519Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.056 328787 chr11 111958686 111958686 C T rs149516118 SDHD Nonsynonymous SNV P53L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.7 328788 chr22 37466635 37466635 C T TMPRSS6 Nonsynonymous SNV G577D 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328789 chr3 97668717 97668717 G C RIOX2 Nonsynonymous SNV A344G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.073 328790 chr2 160084340 160084340 T G rs778652615 TANC1 Nonsynonymous SNV M1104R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 328791 chr12 105593265 105593265 G A rs765084444 APPL2 Nonsynonymous SNV S256F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 328792 chr2 163216747 163216747 A G GCA Synonymous SNV A242A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 328793 chr2 167313464 167313464 C T SCN7A Synonymous SNV Q402Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.668 328794 chr11 119059507 119059507 T C rs776630425 PDZD3 Synonymous SNV P406P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.926 328795 chr3 96533492 96533492 G A EPHA6 Nonsynonymous SNV A9T 0.001 0 0 0 1 0 0 0 0 0 0 0 20.5 328796 chr1 42048778 42048778 T C rs755556450 HIVEP3 Nonsynonymous SNV D564G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328797 chr2 172928465 172928465 G A rs148901371 METAP1D Synonymous SNV T75T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.44 328798 chr4 106604390 106604390 C T INTS12 Nonsynonymous SNV A297T 0 0.003 0 0 0 1 0 0 0 0 0 0 27 328799 chr2 176988305 176988305 T C rs776464566 HOXD9 Nonsynonymous SNV L270P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 328800 chr2 179436596 179436596 G C TTN Nonsynonymous SNV P15690A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 328801 chr22 46326987 46326987 G A rs139882321 WNT7B Synonymous SNV A187A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 328802 chr11 124757700 124757700 C T rs145067866 ROBO4 Nonsynonymous SNV G517D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.16 328803 chr11 134054855 134054855 A C rs141965615 NCAPD3 Nonsynonymous SNV C622G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 14.69 328804 chr2 18741519 18741519 C A RDH14 Nonsynonymous SNV G107V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 328805 chr1 54060131 54060131 G A rs368627108 GLIS1 Nonsynonymous SNV P149S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 328806 chr4 155399 155399 G A ZNF718 Synonymous SNV E308E 0.002 0 0 0 2 0 0 0 0 0 0 0 9.268 328807 chr12 130827577 130827577 C A rs370704151 PIWIL1 Nonsynonymous SNV P41T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.05 328808 chr12 7527503 7527503 T C CD163L1 Synonymous SNV P1016P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 328809 chr4 156135484 156135484 C T rs141417330 NPY2R Synonymous SNV G131G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.25 328810 chr2 202251103 202251103 C T rs201907049 TRAK2 Nonsynonymous SNV G601R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 328811 chr2 11725941 11725941 G A rs757259338 GREB1 Nonsynonymous SNV V357I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.63 328812 chr4 1980430 1980430 C G NSD2 Nonsynonymous SNV L1298V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.189 328813 chr12 12303962 12303962 A T rs368179386 LRP6 Synonymous SNV T934T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.13 328814 chr4 185612735 185612736 TG - rs773706364 PRIMPOL, PRIMPOL C376Vfs*64 0 0.003 0 0 0 1 0 0 0 0 0 0 328815 chr4 3768971 3768971 C T ADRA2C Nonsynonymous SNV S213F 0.001 0 0 0 1 0 0 0 0 0 0 0 16.18 328816 chr4 187629582 187629582 G A rs748957825 FAT1 Nonsynonymous SNV A467V 0 0.003 0 0 0 1 0 0 0 0 0 0 17.87 328817 chr12 26217586 26217586 C T RASSF8 Stop gain R87X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328818 chr12 40715844 40715844 A G rs200185983 LRRK2 Synonymous SNV A1726A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.507 328819 chr4 20709476 20709476 - G PACRGL Frameshift insertion G88Rfs*22 0.001 0 0 0 1 0 0 0 0 0 0 0 328820 chr2 166152415 166152415 C T rs200884216 SCN2A Nonsynonymous SNV R28C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.9 328821 chr4 5809981 5809981 T - EVC M872Sfs*56 0.001 0 0 0 1 0 0 0 0 0 0 0 328822 chr13 103398852 103398852 T C CCDC168 Nonsynonymous SNV K1399E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.79 328823 chr2 173600860 173600860 G T RAPGEF4-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 19.58 328824 chr12 52711715 52711715 G A rs140012906 KRT83 Synonymous SNV N211N 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.73 328825 chr2 176803109 176803109 T C rs537138957 LNPK Nonsynonymous SNV Y149C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 328826 chr2 177034198 177034198 C A HOXD3 Nonsynonymous SNV P119H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 328827 chr20 2636015 2636015 A G rs138832466 NOP56 Nonsynonymous SNV N205S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.117 328828 chr20 30149457 30149457 C T HM13 Nonsynonymous SNV T289I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 328829 chr2 26699785 26699785 C T rs144594692 OTOF Nonsynonymous SNV A194T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.9 328830 chr20 33068922 33068922 A G rs774096689 ITCH Synonymous SNV K558K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.837 328831 chr12 55356792 55356792 C T rs371019313 TESPA1 Nonsynonymous SNV R88Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 328832 chr2 27665284 27665284 G A rs766274814 KRTCAP3 Nonsynonymous SNV R2K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.71 328833 chr20 35075182 35075182 C T rs192489219 DLGAP4 Nonsynonymous SNV T497M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 328834 chr4 68489890 68489890 T C rs769417180 UBA6 Nonsynonymous SNV I932V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 328835 chr14 23346289 23346289 G A rs772610337 LRP10 Synonymous SNV L565L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.705 328836 chr20 39976246 39976246 A G rs768449216 LPIN3 Nonsynonymous SNV S83G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 328837 chr2 191159333 191159333 A C rs144074606 HIBCH Synonymous SNV T81T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.025 328838 chr20 45242140 45242140 G A rs200268336 SLC13A3 Synonymous SNV I112I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.86 328839 chr2 51255403 51255403 C G rs770820205 NRXN1 Synonymous SNV T3T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.68 328840 chr20 50179135 50179135 A C NFATC2 Nonsynonymous SNV C12G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.53 328841 chr20 51871026 51871026 T C rs1014510343 TSHZ2 Synonymous SNV S340S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 328842 chr2 7018056 7018056 T G rs17851586 RSAD2 Nonsynonymous SNV L42R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.027 328843 chr2 211464269 211464269 G A CPS1 Synonymous SNV Q511Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.55 328844 chr12 99007973 99007973 G A rs572939698 IKBIP Nonsynonymous SNV T148M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 328845 chr12 99100282 99100282 G A rs139940389 APAF1 Nonsynonymous SNV R818H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 328846 chr2 73308302 73308302 A G rs3813223 RAB11FIP5 Synonymous SNV P686P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.689 328847 chr14 55636243 55636243 T C DLGAP5 Synonymous SNV T474T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.239 328848 chr2 216262446 216262446 A G FN1 Synonymous SNV D1158D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.067 328849 chr14 60581449 60581449 A G rs567161064 PCNX4 Nonsynonymous SNV M7V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 328850 chr14 60585059 60585059 C T rs773266496 PCNX4 Nonsynonymous SNV R297C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 328851 chr14 61190568 61190568 C T rs575910506 SIX4 Synonymous SNV A75A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 328852 chr5 138699559 138699559 A G PAIP2 Nonsynonymous SNV N29S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 328853 chr5 112176388 112176388 G A APC Synonymous SNV E1681E 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 4.337 328854 chr5 140070818 140070818 C T rs148516171 HARS1 Synonymous SNV Q24Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 17.11 328855 chr5 140263832 140263832 C G PCDHA13 Nonsynonymous SNV T660R 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 328856 chr14 68257464 68257464 G A ZFYVE26 Synonymous SNV S860S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.87 328857 chr20 62374247 62374247 C T rs779749018 SLC2A4RG Synonymous SNV D356D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.705 328858 chr5 140725870 140725870 T A PCDHGA3 Nonsynonymous SNV V757D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 328859 chr5 130515851 130515851 G A LYRM7 Nonsynonymous SNV A28T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 328860 chr5 145239360 145239360 C T rs374291185 GRXCR2 Nonsynonymous SNV R228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 32 328861 chr3 113003646 113003646 C T rs757703891 BOC Synonymous SNV S969S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 328862 chr5 140552945 140552945 T C PCDHB7 Nonsynonymous SNV Y177H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.502 328863 chr21 34697387 34697387 G C IFNAR1 Synonymous SNV T9T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.8 328864 chr12 124352096 124352096 G T rs771650362 DNAH10 Nonsynonymous SNV G2299V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 328865 chr21 38095349 38095349 A G rs201840539 SIM2 Nonsynonymous SNV Y154C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 328866 chr21 41711192 41711192 C T rs201023044 DSCAM Nonsynonymous SNV R454H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 328867 chr12 133146623 133146623 C T rs767758496 FBRSL1 Nonsynonymous SNV A268V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.54 328868 chr2 242155543 242155543 G A rs545708893 ANO7 Nonsynonymous SNV R621H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.288 328869 chr12 133312047 133312047 A C rs202029547 ANKLE2 Nonsynonymous SNV F549V 0.001 0 0.003 0 1 0 0 1 0 0 0 0 17.56 328870 chr2 242630029 242630029 G A rs956146829 ING5 Nonsynonymous SNV G2R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.937 328871 chr3 127339609 127339609 G A rs765979449 MCM2 Synonymous SNV A778A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.885 328872 chr2 24929754 24929754 A G rs553751395 NCOA1 Nonsynonymous SNV N472S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.835 328873 chr3 129324594 129324594 C T rs376671922 PLXND1 Nonsynonymous SNV A297T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.4 328874 chr3 129373853 129373853 T C rs141126159 TMCC1 Synonymous SNV E362E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.172 328875 chr2 26683798 26683798 C T rs753852011 OTOF Synonymous SNV V1188V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.97 328876 chr21 46915289 46915289 C T rs368730788 COL18A1 Synonymous SNV N997N 0.001 0 0 0 1 0 0 0 0 0 0 0 12.6 328877 chr2 27478227 27478227 G A rs138075294 SLC30A3 Nonsynonymous SNV P361S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 328878 chr2 29092646 29092646 T C rs143187215 TRMT61B Synonymous SNV T166T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.082 328879 chr3 139092548 139092548 T C rs138538036 COPB2 Nonsynonymous SNV N285S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 328880 chr2 37121145 37121145 C T rs763857008 STRN Nonsynonymous SNV G276D 0.001 0 0 0 1 0 0 0 0 0 0 0 17.91 328881 chr2 37487377 37487377 T G rs1043105124 PRKD3 Nonsynonymous SNV M679L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 328882 chr5 176861034 176861034 G A rs768994776 GRK6 Synonymous SNV A76A 0 0.003 0 0 0 1 0 0 0 0 0 0 4.2 328883 chr5 31538486 31538486 A G rs756856115 C5orf22 Nonsynonymous SNV N166S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 328884 chr15 34647850 34647850 C T rs201182294 NUTM1 Synonymous SNV G537G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 328885 chr2 54872482 54872482 C T rs149304214 SPTBN1 Synonymous SNV T1449T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 328886 chr22 24180601 24180601 A G rs774445766 DERL3 Nonsynonymous SNV S89P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 328887 chr5 1878267 1878267 G T IRX4 Nonsynonymous SNV T459N 0 0.003 0 0 0 1 0 0 0 0 0 0 15.06 328888 chr2 68873060 68873060 A G rs186403864 PROKR1 Nonsynonymous SNV N36S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.254 328889 chr22 28195041 28195041 C A MN1 Nonsynonymous SNV E497D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.69 328890 chr2 71742770 71742770 C T rs138054675 DYSF Synonymous SNV I228I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.87 328891 chr3 182871567 182871567 G A rs772205737 LAMP3 Nonsynonymous SNV S221L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 328892 chr2 74754374 74754374 C A AUP1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 328893 chr3 184075635 184075635 C G CLCN2 Nonsynonymous SNV V165L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 328894 chr22 32003939 32003939 G A rs201357213 SFI1 Nonsynonymous SNV R670Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.73 328895 chr2 85097802 85097802 G A rs1011167404 TRABD2A Synonymous SNV D72D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.217 328896 chr15 50776474 50776474 A T USP8 Synonymous SNV P602P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.126 328897 chr5 653187 653187 C G rs142143724 CEP72 Nonsynonymous SNV H621Q 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 328898 chr2 86712885 86712885 C T rs193250409 KDM3A Synonymous SNV P1072P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.31 328899 chr5 55076894 55076896 ATA - DDX4 N34del 0 0.003 0 0 0 1 0 0 0 0 0 0 328900 chr15 59497652 59497652 C T MYO1E Synonymous SNV R521R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.36 328901 chr22 40059831 40059831 C T rs921389942 CACNA1I Synonymous SNV I1159I 0.001 0 0 0 1 0 0 0 0 0 0 0 13.05 328902 chr5 37392147 37392147 G - WDR70 R52Kfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 328903 chr3 195638724 195638724 G A rs564823242 TNK2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6 328904 chr3 31663669 31663669 A G rs773524257 STT3B Nonsynonymous SNV M470V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.709 328905 chr3 32398970 32398970 G A rs747744250 CMTM8 Nonsynonymous SNV V85I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.22 328906 chr3 113330934 113330934 T C rs200231010 SIDT1 Nonsynonymous SNV V558A 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328907 chr3 38317566 38317566 A G rs375190358 SLC22A13 Nonsynonymous SNV I406V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 328908 chr3 38348743 38348743 A C rs753331 SLC22A14 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 328909 chr3 38357962 38357962 G A rs149735987 SLC22A14 Synonymous SNV P560P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.695 328910 chr3 38622706 38622706 A G rs199473182 SCN5A Nonsynonymous SNV C982R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.763 328911 chr3 38645350 38645350 C T rs41313687 SCN5A Synonymous SNV S581S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 328912 chr3 119246628 119246628 C T rs761485937 CD80 Nonsynonymous SNV R286H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.81 328913 chr3 42703029 42703029 A G rs199627048 ZBTB47 Nonsynonymous SNV N509S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.07 328914 chr3 44540943 44540943 A G rs751070710 ZNF852 Synonymous SNV N442N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 328915 chr15 85401572 85401572 G A ALPK3 Synonymous SNV V1201V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.229 328916 chr3 46851061 46851061 G C rs936095908 PRSS44P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 328917 chr3 124829155 124829155 G C rs772155850 SLC12A8 Nonsynonymous SNV L313V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 328918 chr14 56763703 56763703 C T rs745387871 PELI2 Nonsynonymous SNV P361L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 328919 chr3 49154250 49154250 G C USP19 Nonsynonymous SNV P230A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 328920 chr14 61449241 61449241 C T rs991014028 SLC38A6 Stop gain R41X 0.001 0 0 0 1 0 0 0 0 0 0 0 33 328921 chr2 113999643 113999643 G A PAX8 Synonymous SNV S181S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 328922 chr3 52539774 52539774 C T rs75734046 STAB1 Nonsynonymous SNV R558C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 328923 chr15 91424584 91424584 C G FURIN Nonsynonymous SNV Q621E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 328924 chr15 91509810 91509810 C G PRC1-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 328925 chr15 92671613 92671613 C T rs1035355538 SLCO3A1 Nonsynonymous SNV S469L 0.001 0 0 0 1 0 0 0 0 0 0 0 28 328926 chr14 68191923 68191923 C A rs28940315 RDH12 Nonsynonymous SNV L99I 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 26.1 328927 chr3 134323054 134323054 G A KY Synonymous SNV P435P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.989 328928 chr6 108041978 108041978 G A rs757663027 SCML4 Nonsynonymous SNV S59L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.83 328929 chr14 75152310 75152310 G A rs750931453 AREL1 Synonymous SNV Y3Y 0.001 0 0 0 1 0 0 0 0 0 0 0 11.3 328930 chr14 76368523 76368523 G A rs780814207 TTLL5 Nonsynonymous SNV S1260N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.49 328931 chr14 78174475 78174475 A T rs764791979 SLIRP Nonsynonymous SNV R7S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.399 328932 chr3 9517252 9517252 C G SETD5 Nonsynonymous SNV S1269C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 328933 chr3 148857971 148857971 C T rs140810728 HPS3 Nonsynonymous SNV S133L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.2 328934 chr14 89041130 89041130 G A rs746845846 ZC3H14 Nonsynonymous SNV D164N 0.001 0 0 0 1 0 0 0 0 0 0 0 23 328935 chr16 1412063 1412065 CAA - rs193302849 GNPTG N116del 0.001 0 0 0 1 0 0 0 0 0 0 0 328936 chr2 152410422 152410422 G A NEB Synonymous SNV L4815L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.24 328937 chr2 158115727 158115727 T C rs754372381 GALNT5 Nonsynonymous SNV L378P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.424 328938 chr2 162696401 162696401 G A rs201440727 SLC4A10 Nonsynonymous SNV R78H 0.001 0 0 0 1 0 0 0 0 0 0 0 26 328939 chr4 114251534 114251534 C T rs142052072 ANK2 Synonymous SNV R220R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.03 328940 chr3 183961720 183961720 A G ALG3 Nonsynonymous SNV L216P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 328941 chr3 184008958 184008958 C T rs374794323 ECE2, EEF1AKMT4-ECE2 Synonymous SNV N626N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.99 328942 chr14 104642365 104642365 T C rs375834167 KIF26A Synonymous SNV N1080N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.013 328943 chr2 175742791 175742791 C T CHN1 Nonsynonymous SNV R126H 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 328944 chr14 105350659 105350659 G A rs2582554 CEP170B Nonsynonymous SNV A445T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 328945 chr16 8890099 8890099 A G rs904749584 TMEM186 Nonsynonymous SNV C118R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 328946 chr2 17962839 17962839 G A rs369584932 GEN1 Nonsynonymous SNV R787Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 3.447 328947 chr4 153457746 153457746 C T rs978276231 MIR4453HG 0 0 0.003 0 0 0 0 1 0 0 0 0 8.362 328948 chr3 196669640 196669640 A G NCBP2AS2 Nonsynonymous SNV E18G 0.001 0 0 0 1 0 0 0 0 0 0 0 17.55 328949 chr15 40062799 40062799 T C FSIP1 Nonsynonymous SNV S47G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.613 328950 chr2 190732617 190732617 G A rs375020232 PMS1 Nonsynonymous SNV R636H 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328951 chr2 19553423 19553423 G A rs770726635 OSR1 Synonymous SNV H48H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.08 328952 chr3 33255486 33255486 C T rs368720528 SUSD5 Nonsynonymous SNV R75Q 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 328953 chr2 198359384 198359384 T C rs146598485 HSPD1 Synonymous SNV V201V 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.75 328954 chr15 42978330 42978330 T C STARD9 Synonymous SNV G1518G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.426 328955 chr16 30536270 30536270 A T rs779437419 ZNF768 Synonymous SNV G397G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 328956 chr4 2065734 2065734 C T rs199509678 NAT8L Synonymous SNV G263G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.47 328957 chr3 42701100 42701100 C T rs572001054 ZBTB47 Nonsynonymous SNV P418L 0.001 0 0 0 1 0 0 0 0 0 0 0 17.26 328958 chr4 2172841 2172841 T C rs770319242 POLN Nonsynonymous SNV N481S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 328959 chr4 25792120 25792120 A G rs765967618 SEL1L3 Nonsynonymous SNV M643T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 328960 chr16 57954393 57954393 G A rs556362158 CNGB1 Nonsynonymous SNV R561W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 328961 chr4 3591317 3591317 C T rs6446743 LINC00955 0 0 0.003 0 0 0 0 1 0 0 0 0 4.859 328962 chr4 36149253 36149253 A G rs144435874 ARAP2 Nonsynonymous SNV M1039T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 328963 chr4 37446915 37446915 C T rs754775492 NWD2 Nonsynonymous SNV T1102M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 328964 chr15 57836690 57836690 G A rs149850139 CGNL1 Nonsynonymous SNV R1132Q 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328965 chr15 63092668 63092668 G A TLN2 Nonsynonymous SNV M2112I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 328966 chr15 63889797 63889797 C G FBXL22 Nonsynonymous SNV P69R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 328967 chr6 56436946 56436946 T C DST Nonsynonymous SNV N1935S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.23 328968 chr4 56831975 56831975 C T rs202222680 CEP135 Nonsynonymous SNV H332Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 328969 chr16 78466640 78466640 C G WWOX Synonymous SNV T236T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.39 328970 chr6 7581121 7581121 G A rs751608838 DSP Synonymous SNV L1566L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.519 328971 chr4 6612895 6612895 A G rs773940017 MAN2B2 Nonsynonymous SNV H767R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 328972 chr15 75137540 75137540 G A rs747518031 SCAMP2 Nonsynonymous SNV R292W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328973 chr4 70352372 70352372 G A UGT2B4 Nonsynonymous SNV L349F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.606 328974 chr3 66434686 66434686 T C rs140974233 LRIG1 Synonymous SNV S600S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.461 328975 chr4 73149047 73149047 C T rs200281232 ADAMTS3 Nonsynonymous SNV V1142M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.595 328976 chr4 73935451 73935451 C A rs1049640877 COX18 Nonsynonymous SNV G9V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.9 328977 chr3 69058948 69058948 C T rs139168099 EOGT Nonsynonymous SNV S17N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 328978 chr3 78737843 78737843 G A ROBO1 Synonymous SNV T339T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.718 328979 chr3 87313625 87313625 G A rs4988460 POU1F1 Synonymous SNV H84H 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.205 328980 chr16 88499944 88499944 C G rs1038073295 ZNF469 Synonymous SNV P2022P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.569 328981 chr3 97806893 97806893 A C rs144786158 OR5AC2 Nonsynonymous SNV S293R 0.003 0 0 0 3 0 0 0 0 0 0 0 23.1 328982 chr3 97593456 97593456 T A CRYBG3 Nonsynonymous SNV F1140I 0.001 0 0 0 1 0 0 0 0 0 0 0 9.161 328983 chr6 7542200 7542200 A C DSP Nonsynonymous SNV I18L 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 328984 chr4 8237222 8237222 G T rs116197207 SH3TC1 Synonymous SNV A1039A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 328985 chr4 84231902 84231902 C T rs756139166 HPSE Nonsynonymous SNV R214Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 328986 chr16 89805023 89805023 G C FANCA Nonsynonymous SNV P1452A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 328987 chr16 90106720 90106720 C T rs768412907 GAS8 Nonsynonymous SNV R150W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 328988 chr4 88243816 88243816 G C rs200528299 HSD17B13 Nonsynonymous SNV Q60E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.666 328989 chr4 88537298 88537306 AGCAGCGAT - rs537399785 DSPP D1176_S1178del 0 0 0.003 0 0 0 0 1 0 0 0 0 328990 chr2 242046768 242046768 C T PASK Nonsynonymous SNV E1279K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 328991 chr15 91500468 91500468 G A rs375163894 RCCD1 Nonsynonymous SNV V98I 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 328992 chr15 93498721 93498721 T C rs144093014 CHD2 Synonymous SNV Y596Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.904 328993 chr17 1516557 1516557 C T rs201908715 SLC43A2 Nonsynonymous SNV V145M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 328994 chr2 26399294 26399294 C A GAREM2 Nonsynonymous SNV T65N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 328995 chr2 27278001 27278001 A G AGBL5 Nonsynonymous SNV N263S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 328996 chr2 27301996 27301996 C T rs372787482 EMILIN1 Synonymous SNV A21A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.72 328997 chr17 2270599 2270599 C T rs898201392 SGSM2 Synonymous SNV R441R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.48 328998 chr5 112770049 112770049 C T rs183589367 TSSK1B Nonsynonymous SNV R163Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 328999 chr17 3324711 3324711 G - rs779954782 OR3A3 V285Ffs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 329000 chr16 335383 335383 G A rs200268548 PDIA2 Synonymous SNV A289A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.407 329001 chr5 121413429 121413429 G A rs770237850 LOX Synonymous SNV A84A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.102 329002 chr5 1219158 1219158 C T rs141604151 SLC6A19 Synonymous SNV G438G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 329003 chr16 681353 681353 C T rs756227828 WFIKKN1 Nonsynonymous SNV P34S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329004 chr2 32640390 32640392 GTT - BIRC6 L680del 0.001 0 0 0 1 0 0 0 0 0 0 0 329005 chr5 131647677 131647677 C T rs77719114 MIR3936HG 0 0 0.007 0 0 0 0 2 0 0 0 0 2.426 329006 chr2 37362680 37362680 T C rs777702134 EIF2AK2 Synonymous SNV A244A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.75 329007 chr2 47220618 47220618 G A rs78745374 TTC7A Nonsynonymous SNV R265Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 329008 chr16 2333320 2333320 G T ABCA3 Nonsynonymous SNV P1301Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.05 329009 chr4 159789642 159789642 T C FNIP2 Synonymous SNV A264A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.464 329010 chr17 7227487 7227487 C T rs200658356 NEURL4 Nonsynonymous SNV V668I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.26 329011 chr17 7232492 7232492 C G NEURL4 Nonsynonymous SNV R47P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329012 chr16 3727629 3727629 C T rs147617137 TRAP1 Nonsynonymous SNV E139K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 329013 chr4 170506621 170506621 T C rs61737748 NEK1 Nonsynonymous SNV Y229C 0.003 0 0 0 3 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.53 329014 chr5 140535684 140535684 T C PCDHB17P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 329015 chr7 143047498 143047498 C A rs139881658 CLCN1 Nonsynonymous SNV P813T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.4 329016 chr17 7720976 7720976 C T DNAH2 Nonsynonymous SNV P3373L 0.001 0 0 0 1 0 0 0 0 0 0 0 34 329017 chr17 8133220 8133220 C T CTC1 Synonymous SNV E1000E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.63 329018 chr5 146974014 146974014 C T rs554696220 JAKMIP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.654 329019 chr16 12371824 12371824 A G rs201272095 SNX29 Synonymous SNV T571T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.797 329020 chr17 8700730 8700730 C T MFSD6L Nonsynonymous SNV G570E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.22 329021 chr4 188924735 188924735 G A rs113438441 ZFP42 Synonymous SNV L258L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.271 329022 chr16 19539260 19539260 A G rs768249540 CCP110 Synonymous SNV S19S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.004 329023 chr2 84806724 84806724 A G rs116398232 DNAH6 Nonsynonymous SNV E717G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.3 329024 chr4 25664176 25664176 C G rs145841234 SLC34A2 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 5.219 329025 chr5 159781959 159781959 G A rs142604768 C1QTNF2 Synonymous SNV G20G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 329026 chr16 31088131 31088131 G A rs138012696 ZNF646 Synonymous SNV T162T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.038 329027 chr5 163346 163346 G A rs371390126 PLEKHG4B Synonymous SNV L1053L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.002 329028 chr4 39469193 39469193 G A LIAS Nonsynonymous SNV A119T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329029 chr4 39851266 39851266 T C rs776437230 PDS5A Synonymous SNV L1031L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.714 329030 chr16 48164699 48164699 C G ABCC12 Nonsynonymous SNV K412N 0.001 0 0 0 1 0 0 0 0 0 0 0 28 329031 chr3 112709901 112709901 G A rs565265086 GTPBP8 Nonsynonymous SNV V19M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.219 329032 chr17 27212892 27212892 C T rs201249913 FLOT2 Nonsynonymous SNV V69I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 329033 chr16 66413441 66413441 T C rs537601826 CDH5 Synonymous SNV H67H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.019 329034 chr5 180551899 180551899 G A rs777656520 OR2V1 Nonsynonymous SNV L136F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.117 329035 chr4 66189849 66189849 C T rs139793674 EPHA5 Nonsynonymous SNV G1012R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 20.5 329036 chr3 121980730 121980730 T C rs142745096 CASR Nonsynonymous SNV I283T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.1 329037 chr16 71957274 71957274 G A rs370771637 IST1 Synonymous SNV S133S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 329038 chr7 36447453 36447453 G A ANLN Synonymous SNV G328G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.533 329039 chr3 124731777 124731777 C A HEG1 Synonymous SNV S882S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.82 329040 chr17 38938514 38938514 C T rs145929879 KRT27 Nonsynonymous SNV G78S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329041 chr4 79385648 79385648 G A rs773826195 FRAS1 Nonsynonymous SNV V2314I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.015 329042 chr3 128707649 128707649 C T rs577201305 KIAA1257 Synonymous SNV P13P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.64 329043 chr4 79754771 79754771 T C rs368136183 BMP2K Synonymous SNV Y111Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 329044 chr4 83557833 83557833 A C rs766934089 SCD5 Nonsynonymous SNV V238G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.5 329045 chr7 720202 720202 G A rs192066279 PRKAR1B Synonymous SNV Y113Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.816 329046 chr5 72302304 72302304 C G rs17851134 FCHO2 Synonymous SNV T176T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 329047 chr17 40341732 40341732 C A rs770309424 GHDC Nonsynonymous SNV V528L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 329048 chr17 43216468 43216468 A G rs761016380 ACBD4 Nonsynonymous SNV M244V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.623 329049 chr16 89762182 89762182 G A rs374856571 CDK10 Synonymous SNV X273X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.813 329050 chr7 75610894 75610894 T G POR Nonsynonymous SNV F234C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 329051 chr7 75615560 75615563 GTGA - rs782708898 POR 0 0.003 0 0 0 1 0 0 0 0 0 0 329052 chr17 2238863 2238863 G T rs150856795 TSR1 Nonsynonymous SNV N121K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 329053 chr3 180685995 180685995 G A FXR1 Nonsynonymous SNV G452D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 329054 chr7 97833403 97833403 C T rs141683058 LMTK2 Nonsynonymous SNV P1463L 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 329055 chr7 98506391 98506391 G A TRRAP Nonsynonymous SNV V386I 0 0.003 0 0 0 1 0 0 0 0 0 0 21.9 329056 chr17 4458211 4458211 C A MYBBP1A Nonsynonymous SNV G80V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 329057 chr3 185229394 185229394 A T rs781204756 LIPH Nonsynonymous SNV F396I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329058 chr7 82467547 82467547 G T rs199650110 PCLO Nonsynonymous SNV L4737I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329059 chr6 126249392 126249392 G A NCOA7 Nonsynonymous SNV G175R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 329060 chr3 188327615 188327615 C T rs138508731 LPP Nonsynonymous SNV P366S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.09 329061 chr3 190993090 190993090 C T rs779185871 UTS2B Synonymous SNV E95E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.809 329062 chr17 66985214 66985214 G T ABCA9 Nonsynonymous SNV T1334K 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 329063 chr6 13280958 13280958 G A rs445714 LOC100130357 0 0 0.014 0 0 0 0 4 0 0 2 0 6.248 329064 chr6 136589415 136589415 G A rs748791032 BCLAF1 Nonsynonymous SNV P759L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 329065 chr6 18215296 18215296 C T KDM1B Nonsynonymous SNV T491I 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 329066 chr17 7189835 7189835 G A rs770096783 SLC2A4 Nonsynonymous SNV G473S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329067 chr17 7399887 7399887 C T rs368365915 POLR2A Synonymous SNV F164F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 329068 chr17 72246428 72246428 C T rs779936673 TTYH2 Synonymous SNV L29L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.88 329069 chr6 144803392 144803392 C T UTRN Synonymous SNV L1185L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 329070 chr3 30032665 30032665 C T rs535400850 RBMS3 Synonymous SNV N406N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.52 329071 chr3 32031067 32031067 C G rs145325915 ZNF860 Nonsynonymous SNV L166V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.629 329072 chr17 10216024 10216024 G A rs757283120 MYH13 Nonsynonymous SNV A1411V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.71 329073 chr3 38158316 38158316 T C rs762650279 DLEC1 Nonsynonymous SNV V1375A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 329074 chr17 76533554 76533554 C T rs375761147 DNAH17 Nonsynonymous SNV A896T 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 329075 chr5 168098205 168098205 G C SLIT3 Nonsynonymous SNV H1382Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329076 chr5 168201265 168201265 C T rs147898834 SLIT3 Nonsynonymous SNV A424T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.87 329077 chr5 171614923 171614923 G A rs776129507 STK10 Synonymous SNV L42L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 329078 chr8 145692868 145692868 G T KIFC2 Nonsynonymous SNV G157V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329079 chr6 17662261 17662261 T G rs142677873 NUP153 Nonsynonymous SNV E419A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.93 329080 chr17 79094493 79094493 C T rs374173747 AATK Synonymous SNV P978P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.948 329081 chr3 46307387 46307387 G A rs201531648 CCR3 Synonymous SNV A246A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 329082 chr6 24667009 24667009 G C rs146127613 TDP2 Nonsynonymous SNV L28V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.02 329083 chr3 46761329 46761329 G T PRSS46P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.671 329084 chr5 1878631 1878631 G T IRX4 Nonsynonymous SNV P338T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.097 329085 chr17 80879394 80879394 A C TBCD Nonsynonymous SNV I707L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.41 329086 chr8 144803247 144803247 T G MAPK15 Nonsynonymous SNV V332G 0.001 0 0 0 1 0 0 0 0 0 0 0 1.678 329087 chr8 144898888 144898888 G A rs754974970 PUF60 Synonymous SNV N448N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.898 329088 chr5 33989261 33989261 T C AMACR Synonymous SNV E362E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.018 329089 chr17 38975134 38975148 GCTGCCGCCGCCGGA - rs755592687 KRT10 G548_S552del 0.001 0 0 0 1 0 0 0 0 0 0 0 329090 chr8 2857648 2857648 G A rs1037587243 CSMD1 Nonsynonymous SNV H2679Y 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 329091 chr8 29989966 29989966 G A rs138038257 MBOAT4 Synonymous SNV H267H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.292 329092 chr5 52205990 52205990 A G ITGA1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 329093 chr18 20577595 20577595 T C rs768349229 RBBP8 Nonsynonymous SNV S681P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 329094 chr18 21735978 21735978 C G rs769689740 CABYR Nonsynonymous SNV D73E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 329095 chr6 39512404 39512404 A G rs750087504 KIF6 Synonymous SNV D451D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.933 329096 chr18 29848012 29848012 T C rs372903109 GAREM1 Nonsynonymous SNV K818R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.873 329097 chr17 40695622 40695622 G A rs767597884 NAGLU Nonsynonymous SNV R533Q 0.001 0 0 0 1 0 0 0 0 0 0 0 8.836 329098 chr6 45289532 45289532 C A rs188596507 SUPT3H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.78 329099 chr6 46216616 46216616 C T RCAN2 Synonymous SNV L35L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 329100 chr8 22277087 22277087 G C rs768296929 SLC39A14 Nonsynonymous SNV C452S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.98 329101 chr5 74981202 74981202 T C rs201739662 POC5 Nonsynonymous SNV T388A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329102 chr6 5086004 5086004 G A rs61752357 PPP1R3G Synonymous SNV A95A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.95 329103 chr8 95164094 95164094 A G rs776132952 CDH17 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 25.2 329104 chr6 66205023 66205023 G T rs111947397 EYS Nonsynonymous SNV P94Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.4 329105 chr5 89949740 89949740 A G rs372188446 ADGRV1 Nonsynonymous SNV K1450R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 23.2 329106 chr4 114208830 114208830 C T rs769262938 ANK2 Nonsynonymous SNV H647Y 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 329107 chr6 8428207 8428207 G A rs150360616 SLC35B3 Synonymous SNV L96L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 329108 chr6 90395016 90395016 T C rs10484885 LOC101929057 0 0 0.007 0 0 0 0 2 0 0 0 0 0.531 329109 chr6 90578527 90578527 T A rs200157861 CASP8AP2 Nonsynonymous SNV S1840T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.352 329110 chr19 814728 814728 G A rs201742564 PLPPR3 Synonymous SNV H207H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 329111 chr4 143003276 143003276 C T rs143681544 INPP4B Synonymous SNV S850S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.14 329112 chr4 144545393 144545393 A T FREM3 Nonsynonymous SNV W1841R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 329113 chr17 66871422 66871422 - TT ABCA8 Frameshift insertion P1497Qfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 329114 chr6 117715862 117715862 G A rs757140194 ROS1 Nonsynonymous SNV T299I 0.001 0 0 0 1 0 0 0 0 0 0 0 11.03 329115 chr4 155507164 155507164 C T rs200378626 FGA Nonsynonymous SNV D473N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 329116 chr6 126288064 126288064 A C rs377194909 HINT3 Nonsynonymous SNV K78T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 329117 chr4 159753257 159753257 C G FNIP2 Nonsynonymous SNV A197G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 329118 chr9 130476444 130476444 G A PTRH1 Stop gain R194X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 329119 chr6 138607852 138607852 C T rs759459619 ARFGEF3 Nonsynonymous SNV R862C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 329120 chr7 100730791 100730791 G A rs749441344 TRIM56 Synonymous SNV P66P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.788 329121 chr9 108483884 108483884 A C rs371968560 TMEM38B Synonymous SNV L112L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.002 329122 chr6 144165695 144165695 C T rs139158208 LTV1 Stop gain R26X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 329123 chr19 4432039 4432039 G A rs757341375 CHAF1A Nonsynonymous SNV V680I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.37 329124 chr17 76134717 76134717 C T rs767967741 TMC8 Nonsynonymous SNV P576L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329125 chr4 1803172 1803172 G A rs775241791 FGFR3 Nonsynonymous SNV R175H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 329126 chr7 103808940 103808940 T C rs371946737 ORC5 Synonymous SNV T286T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.212 329127 chr7 105029788 105029788 - T SRPK2 Frameshift insertion E12Rfs*91 0 0 0.003 0 0 0 0 1 0 0 0 0 329128 chr9 115421590 115421590 C T rs151231750 KIAA1958 Synonymous SNV T464T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.24 329129 chr4 186545601 186545601 G A SORBS2 Nonsynonymous SNV L228F 0.001 0 0 0 1 0 0 0 0 0 0 0 19.15 329130 chr4 186573850 186573850 C T rs142735848 SORBS2 Synonymous SNV T19T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.6 329131 chr7 114066604 114066604 G A rs756555227 FOXP2 Nonsynonymous SNV S13N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 329132 chr19 5590352 5590352 C A rs759834997 SAFB2 Nonsynonymous SNV G821V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 329133 chr19 6697405 6697405 C T rs748941246 C3 Nonsynonymous SNV V916I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329134 chr19 6697465 6697465 C T rs777574436 C3 Nonsynonymous SNV V896I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.737 329135 chr4 25005589 25005589 C T rs376298436 LGI2 Synonymous SNV T374T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.895 329136 chr4 25315761 25315761 - T rs766359165 ZCCHC4 Frameshift insertion Q77Sfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 329137 chr6 1610712 1610712 A G FOXC1 Nonsynonymous SNV N11S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 329138 chr6 165713895 165713895 A G rs34955637 C6orf118 Synonymous SNV C278C 0.001 0 0 0 1 0 0 0 0 0 0 0 4.932 329139 chr17 79968710 79968710 C T rs111277254 ASPSCR1 Synonymous SNV Y324Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 329140 chr17 79974680 79974680 C G rs112403819 ASPSCR1 Synonymous SNV V418V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.808 329141 chr17 80019180 80019180 C G rs111961766 DUS1L Synonymous SNV V249V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 329142 chr17 80019219 80019219 C T rs111383728 DUS1L Synonymous SNV L236L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.114 329143 chr17 80041682 80041682 G A rs140573172 FASN Synonymous SNV F1728F 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 8.664 329144 chr9 128001351 128001351 G A HSPA5 Nonsynonymous SNV R289W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 329145 chr7 141708321 141708321 C T rs199885071 MGAM Nonsynonymous SNV T48I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.66 329146 chr9 129940177 129940177 C T RALGPS1 Synonymous SNV A304A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.395 329147 chr6 24446051 24446051 T C rs147462718 GPLD1 Nonsynonymous SNV H610R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329148 chr18 5416318 5416318 G A rs111274175 EPB41L3 Synonymous SNV P522P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.377 329149 chr7 142983669 142983669 G C TMEM139 Nonsynonymous SNV G133A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.288 329150 chr9 130887648 130887648 C T PTGES2 Nonsynonymous SNV A118T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329151 chr6 26087686 26087686 G C rs149342416 HFE Nonsynonymous SNV R6S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.08 329152 chr18 9792152 9792152 G T RAB31 Nonsynonymous SNV A41S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329153 chr18 10759802 10759802 C G rs976903888 PIEZO2 Nonsynonymous SNV A1161P 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329154 chr9 18928706 18928706 G T rs748136957 SAXO1 Nonsynonymous SNV P192T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 329155 chr9 20414212 20414212 G C MLLT3 Nonsynonymous SNV S208C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 329156 chr7 150884189 150884189 C T ASB10 Nonsynonymous SNV C10Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 329157 chr18 21519305 21519305 C T rs552813830 LAMA3 Nonsynonymous SNV T1329I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 329158 chr18 21736315 21736315 G A rs367779705 CABYR Nonsynonymous SNV D186N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 329159 chr18 28993140 28993140 A G rs138401334 DSG4 Nonsynonymous SNV H921R 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.71 329160 chr4 68810245 68810245 C T rs367757086 TMPRSS11A Nonsynonymous SNV E82K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 329161 chr7 158823471 158823471 C T VIPR2 Nonsynonymous SNV E369K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 329162 chr18 31603403 31603403 C G rs987963604 NOL4 0.001 0 0 0 1 0 0 0 0 0 0 0 11.83 329163 chr19 10206934 10206934 G A ANGPTL6 Synonymous SNV G102G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 329164 chr4 74719089 74719089 G T rs145723340 PF4V1 Nonsynonymous SNV A4S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.976 329165 chr7 21945946 21945946 C T rs201108706 CDCA7L Synonymous SNV A248A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 329166 chr19 11216226 11216226 G A rs753319170 LDLR Nonsynonymous SNV R174H 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 13.43 329167 chr4 77660733 77660733 G A rs149936624 SHROOM3 Synonymous SNV P469P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 329168 chr19 11545837 11545837 T A CCDC151 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 329169 chr4 8034381 8034381 C T rs554582397 ABLIM2 Synonymous SNV P115P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 329170 chr19 12986870 12986870 C T rs201271441 DNASE2 Synonymous SNV P339P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 329171 chr19 13002722 13002722 G A GCDH Nonsynonymous SNV D69N 0.001 0 0 0 1 0 0 0 0 0 0 0 26 329172 chr19 13255250 13255250 C T rs144491920 STX10 Nonsynonymous SNV V193I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 329173 chr4 85741338 85741338 C T rs1023080022 WDFY3 Synonymous SNV G531G 0.001 0 0 0 1 0 0 0 0 0 0 0 16.66 329174 chr9 2039789 2039791 CAG - SMARCA2 Q238del 0.001 0 0 0 1 0 0 0 0 0 0 0 329175 chr4 87691345 87691345 C T rs760768881 PTPN13 Nonsynonymous SNV A1408V 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329176 chr7 39379590 39379590 G A rs571376259 POU6F2 Synonymous SNV P316P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.58 329177 chr4 88534051 88534051 G A rs199593367 DSPP Nonsynonymous SNV G238D 0.001 0 0 0 1 0 0 0 0 0 0 0 16.64 329178 chr6 7229304 7229304 G A rs116483452 RREB1 Synonymous SNV A324A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.531 329179 chr6 74183303 74183303 A G MTO1 Nonsynonymous SNV S251G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.83 329180 chrX 111155702 111155702 G A rs370740061 TRPC5 Synonymous SNV A239A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.441 329181 chr19 17412084 17412084 C T rs149325940 ABHD8 Synonymous SNV P114P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 329182 chrX 153036768 153036768 T C rs781946256 PLXNB3 Nonsynonymous SNV Y753H 0 0.005 0 0 0 2 0 0 0 1 0 0 0.001 329183 chr7 75192303 75192303 G A HIP1 Nonsynonymous SNV S319L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.96 329184 chr19 1783237 1783239 CTC - rs530525816 ATP8B3 E1194del 0.001 0 0 0 1 0 0 0 0 0 0 0 329185 chr7 82475912 82475912 T C rs375384154 PCLO Nonsynonymous SNV H4601R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 329186 chr5 131705698 131705698 G A rs139203363 SLC22A5 Nonsynonymous SNV G12S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 28.8 329187 chr19 2222438 2222438 G A DOT1L Synonymous SNV K1090K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.997 329188 chr19 3539225 3539225 C T rs942409567 C19orf71 Nonsynonymous SNV T17I 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 329189 chrX 152772340 152772340 C T rs781972404 BGN Synonymous SNV A243A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.798 329190 chr7 90708750 90708750 G A rs778818423 CDK14 Nonsynonymous SNV R241H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 329191 chr5 137518067 137518067 T C KIF20A Nonsynonymous SNV M144T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 329192 chrX 100265627 100265627 A G rs376411580 TRMT2B Synonymous SNV P486P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.485 329193 chr19 35512877 35512877 C T rs180984713 GRAMD1A Synonymous SNV S585S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.48 329194 chr8 10470341 10470341 G A rs375440665 RP1L1 Nonsynonymous SNV R423W 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 329195 chr19 4714274 4714274 G A rs771214024 DPP9 Synonymous SNV A44A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.519 329196 chr8 110457112 110457112 A G PKHD1L1 Nonsynonymous SNV T1672A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 329197 chr19 36595713 36595713 G A rs143299941 WDR62 Nonsynonymous SNV R1452Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 0.235 329198 chr10 103826837 103826837 A G rs757589760 HPS6 Nonsynonymous SNV R536G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.79 329199 chrX 138630595 138630595 C T rs375658633 F9 Synonymous SNV C117C 0.001 0 0.007 0 1 0 0 2 0 0 1 0 8.913 329200 chr5 145252388 145252388 T C rs144585004 GRXCR2 Synonymous SNV E48E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 329201 chrX 142717272 142717272 G A rs782210435 SLITRK4 Synonymous SNV D551D 0.003 0 0 0 3 0 0 0 1 0 0 0 0.005 329202 chr8 128960658 128960658 G T rs750543990 TMEM75 0 0 0.003 0 0 0 0 1 0 0 0 0 3.683 329203 chr8 133047069 133047069 T A rs375675818 OC90 Nonsynonymous SNV D231V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.86 329204 chr19 8160375 8160375 C T rs183344960 FBN3 Nonsynonymous SNV C1890Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 329205 chr19 38951181 38951181 C T rs750233243 RYR1 Nonsynonymous SNV R843C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.7 329206 chr19 39234785 39234785 C T rs771107260 CAPN12 Synonymous SNV R7R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.39 329207 chr19 39367001 39367001 C T rs753639440 RINL Synonymous SNV A60A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 329208 chr8 142367235 142367235 G A rs776669655 GPR20 Synonymous SNV A263A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.693 329209 chr10 123658407 123658407 C A rs768890926 ATE1 Nonsynonymous SNV K201N 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329210 chr5 154190843 154190843 T C rs765581629 LARP1 Synonymous SNV Y688Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.932 329211 chr7 127970909 127970909 G A RBM28 Synonymous SNV V223V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.78 329212 chr5 156479506 156479506 G T HAVCR1 Nonsynonymous SNV T180K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 329213 chr10 124189301 124189301 G A rs752501285 PLEKHA1 Nonsynonymous SNV G368E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.839 329214 chr7 130301862 130301862 T C COPG2 Nonsynonymous SNV D133G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 329215 chrX 70345272 70345272 T G MED12 Nonsynonymous SNV D766E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.372 329216 chrX 75396724 75396724 G A rs201428513 PBDC1 Synonymous SNV R102R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.23 329217 chrX 76938748 76938748 G A rs61752457 ATRX Nonsynonymous SNV P629L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 15.08 329218 chrX 77298859 77298859 G T ATP7A Nonsynonymous SNV E1272D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.34 329219 chr7 138213915 138213915 T C rs747087695 TRIM24 Synonymous SNV A312A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 329220 chr10 121564904 121564904 T C rs141464998 INPP5F Nonsynonymous SNV M417T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329221 chr19 45916979 45916979 A G rs146256515 ERCC1 Nonsynonymous SNV S243P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.5 329222 chr10 135183486 135183486 G A rs1048922542 ECHS1 Synonymous SNV Y112Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.483 329223 chr19 47226175 47226175 T C rs779473945 STRN4 Nonsynonymous SNV S607G 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 329224 chr19 11266376 11266376 T C rs377701296 SPC24 Nonsynonymous SNV Q26R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.071 329225 chr19 48800583 48800583 C T CCDC114 Nonsynonymous SNV G555S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.185 329226 chr10 19981448 19981448 C T MALRD1 Synonymous SNV V2093V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.52 329227 chr19 12223127 12223127 G - rs773538828 ZNF788P E256Nfs*13 0.001 0 0 0 1 0 0 0 0 0 0 0 329228 chr19 49139101 49139101 C G rs957288095 DBP Nonsynonymous SNV A96P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.94 329229 chr7 150068582 150068582 C G rs563404040 REPIN1 Synonymous SNV P84P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.279 329230 chr7 150069234 150069234 C G REPIN1 Nonsynonymous SNV R302G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 329231 chr8 24187571 24187571 A C rs374921590 ADAM28 Nonsynonymous SNV H349P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 329232 chr10 24889668 24889668 C T rs140086076 ARHGAP21 Synonymous SNV T800T 0.001 0 0 0 1 0 0 0 0 0 0 0 12.43 329233 chr19 15564997 15564997 T C RASAL3 Nonsynonymous SNV M748V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 329234 chr19 50188046 50188046 G A rs138444838 PRMT1 Synonymous SNV T179T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.484 329235 chr19 50305303 50305303 G A rs367804785 AP2A1 Synonymous SNV P673P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.489 329236 chr10 45799232 45799232 G A rs760360802 OR13A1 Synonymous SNV N213N 0.003 0 0 0 3 0 0 0 0 0 0 0 9.834 329237 chr19 50475896 50475896 G A rs887647410 SIGLEC16 Nonsynonymous SNV V436I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.798 329238 chr10 134736016 134736016 C T rs148107424 CFAP46 Nonsynonymous SNV A485T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.817 329239 chr10 55566874 55566874 - TTCTT PCDH15 Frameshift insertion M1498Kfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 329240 chr8 94935883 94935883 G A rs535568386 PDP1 Synonymous SNV A532A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.548 329241 chr5 75914411 75914411 G A rs202236954 F2RL2 Nonsynonymous SNV R19C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 329242 chr10 68940148 68940148 C T rs773609785 CTNNA3 Nonsynonymous SNV R325Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 34 329243 chr7 44611947 44611947 G A DDX56 Nonsynonymous SNV P215L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 329244 chr19 19655800 19655800 G A CILP2 Nonsynonymous SNV E816K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 329245 chr10 72292510 72292510 G A rs766671595 PALD1 Nonsynonymous SNV R256Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 329246 chr10 72360292 72360292 G A rs370935432 PRF1 Nonsynonymous SNV R123C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 329247 chr5 80088631 80088631 G A rs146185367 MSH3 Nonsynonymous SNV D875N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.7 329248 chr10 5842588 5842588 C T rs1047646 GDI2 Synonymous SNV E42E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.889 329249 chr7 50771526 50771526 T C rs533088199 GRB10 Nonsynonymous SNV N44S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329250 chr9 114172388 114172388 C G rs888218185 ECPAS Nonsynonymous SNV G828A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 329251 chr9 115336625 115336625 G A rs201572624 KIAA1958 Nonsynonymous SNV G89R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 329252 chr19 35752871 35752871 G A rs777097597 LSR Synonymous SNV A254A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.41 329253 chr7 64439123 64439123 G A rs773489443 ERV3-1-ZNF117, ZNF117 Synonymous SNV L276L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.552 329254 chr7 6523623 6523623 C A rs758612232 KDELR2 Nonsynonymous SNV K22N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 329255 chr9 112811015 112811015 - CCCCCGGAGTCTCCTGGA PALM2AKAP2 E27_R28insSPGPPE 0.001 0 0 0 1 0 0 0 0 0 0 0 329256 chr7 76019544 76019544 G C rs777891328 SSC4D Synonymous SNV L520L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 329257 chr19 37676178 37676178 C G rs371447437 ZNF585B Nonsynonymous SNV G754A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.336 329258 chr6 111621318 111621318 T C rs757664835 REV3L Synonymous SNV P3098P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 329259 chr9 125872867 125872877 CAAGGAAAGGA - MIR600HG 0 0 0.003 0 0 0 0 1 0 0 0 0 329260 chr19 38799431 38799431 C T rs564705275 YIF1B 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 329261 chr6 128324374 128324374 G A PTPRK Nonsynonymous SNV P833L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 329262 chr6 129905232 129905232 C G ARHGAP18 Nonsynonymous SNV R580P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 329263 chr19 58234707 58234707 C A rs766781514 ZNF671 Nonsynonymous SNV G47V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.75 329264 chr6 132271262 132271262 T C CCN2 Nonsynonymous SNV M194V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.731 329265 chr9 133768823 133768823 G A rs117716016 QRFP Nonsynonymous SNV R135W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329266 chr6 135318639 135318639 G C HBS1L Nonsynonymous SNV P190R 0.001 0 0 0 1 0 0 0 0 0 0 0 13.08 329267 chr6 13615613 13615613 C T NOL7 Nonsynonymous SNV A8V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 329268 chr19 59068485 59068485 C A rs137890092 UBE2M Nonsynonymous SNV S50I 0.001 0 0 0 1 0 0 0 0 0 0 0 19.43 329269 chr6 150071064 150071064 C T rs148824803 PCMT1 Synonymous SNV S67S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.61 329270 chr9 136521560 136521560 T C rs60202024 DBH-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.504 329271 chr11 101775559 101775559 G A rs759417696 ANGPTL5 Nonsynonymous SNV P142L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 329272 chr19 44648788 44648788 G T rs763117053 ZNF234 Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 329273 chr6 154763222 154763222 C G CNKSR3 Nonsynonymous SNV R146P 0.001 0 0 0 1 0 0 0 0 0 0 0 34 329274 chr6 158924829 158924829 G A TULP4 Synonymous SNV G1378G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.924 329275 chr9 139835997 139835997 G A rs768895155 FBXW5 Synonymous SNV P412P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 329276 chr20 17610519 17610519 T C rs763261556 RRBP1 Nonsynonymous SNV S900G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329277 chr11 1080612 1080612 C T rs372836833 MUC2 Synonymous SNV A418A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.827 329278 chr9 140870366 140870366 A G rs199718663 CACNA1B Synonymous SNV A517A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.052 329279 chr8 142228791 142228791 G A rs373015306 SLC45A4 Synonymous SNV T265T 0.001 0 0 0 1 0 0 0 0 0 0 0 2.201 329280 chr20 20610231 20610231 C T RALGAPA2 Nonsynonymous SNV V337I 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 329281 chr8 143545950 143545950 G A rs372236778 ADGRB1 Nonsynonymous SNV A131T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.58 329282 chr19 49253600 49253600 C T FUT1 Stop gain W313X 0.001 0 0 0 1 0 0 0 0 0 0 0 42 329283 chr6 21231089 21231089 A G rs552051372 CDKAL1 Nonsynonymous SNV N520S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329284 chr19 49481400 49481400 G A rs748765779 GYS1 Nonsynonymous SNV T331M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 27.3 329285 chr9 35700042 35700042 G A rs748941469 TLN1 Nonsynonymous SNV R2233W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 329286 chr9 36823590 36823590 T C MIR4475 0 0 0.003 0 0 0 0 1 0 0 0 0 2.282 329287 chr11 120998903 120998903 C T rs747731160 TECTA Synonymous SNV L739L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.11 329288 chr19 50963334 50963334 G A rs375448678 MYBPC2 Synonymous SNV E943E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.424 329289 chr11 121425907 121425907 G T rs769255535 SORL1 Nonsynonymous SNV L817F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 329290 chr9 6595094 6595094 A G GLDC Nonsynonymous SNV M394T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 329291 chr19 52223048 52223048 C A rs201563187 HAS1 Nonsynonymous SNV W37L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 329292 chr11 123989383 123989383 G A rs35215239 VWA5A Nonsynonymous SNV E205K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.891 329293 chr8 2005484 2005484 C T rs146648198 MYOM2 Synonymous SNV A94A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 329294 chr9 88577039 88577039 T C rs904820220 NAA35 Synonymous SNV L154L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.388 329295 chr8 22168719 22168719 T C rs200405397 PIWIL2 Nonsynonymous SNV I632T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 329296 chr20 50721681 50721681 C T ZFP64 Synonymous SNV A32A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 329297 chr20 51872641 51872641 C A TSHZ2 Nonsynonymous SNV R879S 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329298 chr9 98229264 98229264 A T rs45628039 LOC100507346 0 0 0.007 0 0 0 0 2 0 0 1 0 4.595 329299 chrUn_gl000219 56958 56958 T C LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 329300 chr6 41001671 41001671 G A rs768727677 UNC5CL Nonsynonymous SNV P212L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.759 329301 chr20 55111381 55111381 G A rs61734533 FAM209B Nonsynonymous SNV G135S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.105 329302 chr11 113195400 113195400 G A rs369313544 TTC12 Synonymous SNV A81A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.06 329303 chrX 107402724 107402724 G A rs761666169 COL4A6 Nonsynonymous SNV R1537C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 329304 chr19 54140232 54140232 G A rs370961873 DPRX Nonsynonymous SNV R189Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.048 329305 chr20 57019167 57019167 A G rs746344958 VAPB Nonsynonymous SNV Q203R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.363 329306 chr6 42713633 42713635 AAA - rs767008407 TBCC F60del 0.001 0 0 0 1 0 0 0 0 0 0 0 329307 chr6 42974209 42974209 - CAGCCC rs751086210 PPP2R5D Q47_A48insPQ 0.001 0 0 0 1 0 0 0 0 0 0 0 329308 chr11 117152890 117152890 G A rs754052074 RNF214 Nonsynonymous SNV G539D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 329309 chr11 117280560 117280560 A T CEP164 Synonymous SNV S1320S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 329310 chr19 55089070 55089070 G C rs906330161 LILRA2 Nonsynonymous SNV R465T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.554 329311 chrX 135095586 135095586 G C rs796053286 SLC9A6 Nonsynonymous SNV R409T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.1 329312 chr11 1477733 1477733 C T BRSK2 Synonymous SNV Y608Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.298 329313 chr11 119050958 119050958 G A rs151306288 NLRX1 Nonsynonymous SNV R743H 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 329314 chrX 139795904 139795904 C G rs141725862 LINC00632 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 329315 chr11 1858436 1858436 G C rs78352900 SYT8 Synonymous SNV V328V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.122 329316 chr8 73979593 73979594 TG - rs773552225 SBSPON H259Qfs*31 0.001 0 0 0 1 0 0 0 0 0 0 0 329317 chr19 56133213 56133213 C T ZNF784 Synonymous SNV S292S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.36 329318 chr19 56156380 56156380 C T rs149813172 ZNF581 Nonsynonymous SNV P148L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 329319 chr6 73951333 73951333 G A rs190629651 KHDC1 Synonymous SNV T138T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.293 329320 chr11 2950215 2950215 A T rs778666265 PHLDA2 Nonsynonymous SNV V127E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.193 329321 chr8 65494433 65494433 G A rs79001543 BHLHE22 Synonymous SNV K362K 0.003 0 0 0 3 0 0 0 0 0 0 0 7.064 329322 chr11 30557678 30557678 G A rs200641482 MPPED2 Nonsynonymous SNV T58M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 329323 chr6 76023217 76023217 C T FILIP1 Synonymous SNV E777E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.305 329324 chr21 33043879 33043879 C G rs150267574 SCAF4 Nonsynonymous SNV V1078L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 329325 chrX 65390461 65390461 T A HEPH Nonsynonymous SNV W20R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.66 329326 chrX 70330483 70330483 C T rs17875899 IL2RG Nonsynonymous SNV E109K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.048 329327 chr11 397390 397390 G T rs77752215 PKP3 Nonsynonymous SNV V297L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.149 329328 chr20 1285832 1285832 C T rs151237144 SNPH Nonsynonymous SNV R207C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 329329 chr10 102239692 102239692 A T rs781659587 WNT8B Nonsynonymous SNV K55M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 329330 chr10 103906937 103906937 A G rs779760521 PPRC1 Synonymous SNV S1276S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.206 329331 chr10 103921981 103921981 C T NOLC1 Synonymous SNV G695G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 329332 chr10 104638177 104638177 G A AS3MT Nonsynonymous SNV V218I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.418 329333 chr9 115422129 115422129 C A rs114233958 KIAA1958 Nonsynonymous SNV T644N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.52 329334 chr20 2320515 2320515 C T rs150542876 TGM3 Nonsynonymous SNV R606C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329335 chr21 44492158 44492158 G A rs148865119 CBS, CBSL Nonsynonymous SNV P49L 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 25.7 329336 chr10 106121810 106121810 C G rs755906571 CFAP58 Nonsynonymous SNV D107E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 329337 chr10 112581578 112581578 G A rs1051700573 RBM20 Synonymous SNV K1067K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.22 329338 chr9 116810961 116810961 T C rs373820121 ZNF618 Nonsynonymous SNV M427T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.842 329339 chr9 111979340 111979340 C T rs907127418 EPB41L4B Nonsynonymous SNV A499T 0.002 0 0 0 2 0 0 0 0 0 0 0 5.496 329340 chr10 115365607 115365607 G A NRAP Nonsynonymous SNV R1241C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 329341 chr10 120514070 120514070 C T rs756839692 CACUL1 Nonsynonymous SNV G69S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 329342 chr11 32624559 32624559 G T rs755415957 CCDC73 Nonsynonymous SNV T1013K 0.001 0 0 0 1 0 0 0 0 0 0 0 13.6 329343 chr22 17586491 17586491 G A rs41321447 IL17RA Synonymous SNV P314P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.825 329344 chr10 124644348 124644348 T C rs939348378 LOC399815 0 0 0.003 0 0 0 0 1 0 0 0 0 1.02 329345 chr22 18912663 18912663 G A rs761715045 LOC102724788, PRODH Nonsynonymous SNV R82C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 329346 chr10 126673560 126673560 - AA rs535580590 ZRANB1 X709delinsX 0 0 0.003 0 0 0 0 1 0 0 0 0 329347 chr9 130197441 130197441 C T rs137885170 ZNF79 Nonsynonymous SNV R36W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 329348 chr20 31825654 31825654 G T BPIFA1 Nonsynonymous SNV G46V 0.001 0 0 0 1 0 0 0 0 0 0 0 3.176 329349 chr9 131418962 131418962 C A rs752793349 WDR34 Nonsynonymous SNV S15I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.34 329350 chr7 11675923 11675923 C T THSD7A Nonsynonymous SNV D286N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.75 329351 chr20 34090345 34090345 C T rs758095541 CEP250 Nonsynonymous SNV T751M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 15.35 329352 chr7 121653486 121653486 C G rs369161178 PTPRZ1 Nonsynonymous SNV H1462Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329353 chr22 26118329 26118329 G A rs144810352 GRK3 Nonsynonymous SNV R547H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 329354 chr7 122338687 122338687 T C rs896385674 RNF133 Nonsynonymous SNV K96E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 329355 chr10 14013759 14013759 C A FRMD4A Nonsynonymous SNV S14I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.819 329356 chr10 17277252 17277252 C T VIM Synonymous SNV L365L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 329357 chr22 26937263 26937263 C T rs142901851 TPST2 Nonsynonymous SNV A112T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 329358 chr22 28146909 28146909 T C MN1 Synonymous SNV L1319L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.198 329359 chr20 39983321 39983321 C T rs138855677 LPIN3 Nonsynonymous SNV R523W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 329360 chr22 30930023 30930023 C T rs765201906 SEC14L6 Nonsynonymous SNV R45Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 329361 chr22 38516894 38516894 G A rs373930150 PLA2G6 Synonymous SNV R484R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 7.669 329362 chr20 57290407 57290407 C T rs201559160 STX16-NPEPL1 0.001 0 0 0 1 0 0 0 0 0 0 0 0.92 329363 chr11 57466435 57466435 A G rs769020656 ZDHHC5 Synonymous SNV Q509Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.139 329364 chr20 61288334 61288334 C T rs760779599 SLCO4A1 Synonymous SNV G176G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.76 329365 chr20 61297763 61297763 C A SLCO4A1 Synonymous SNV G436G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.37 329366 chr9 22029524 22029524 C T CDKN2B-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.992 329367 chr9 23765046 23765046 C T rs3793582 ELAVL2 Synonymous SNV L11L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.41 329368 chr20 61525407 61525407 C T rs201668788 DIDO1 Synonymous SNV P904P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.3 329369 chr22 42605897 42605897 C T rs145913152 TCF20 Synonymous SNV G1805G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.209 329370 chr10 65281327 65281327 A C REEP3 Synonymous SNV R8R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.127 329371 chr11 56113635 56113635 T C OR8K1 Nonsynonymous SNV Y41H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329372 chr20 62329975 62329978 TTTT - RTEL1-TNFRSF6B 0.001 0 0 0 1 0 0 0 0 0 0 0 329373 chr7 154760760 154760760 G C PAXIP1 Nonsynonymous SNV A384G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 329374 chr7 155538220 155538220 C T rs777600463 RBM33 Nonsynonymous SNV T968M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 329375 chr11 60775222 60775222 G A rs934070374 CD6 Synonymous SNV E103E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.657 329376 chr11 610530 610530 G A rs377434141 PHRF1 Synonymous SNV P1482P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.964 329377 chr9 420432 420432 A G DOCK8 Nonsynonymous SNV D1191G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.3 329378 chr11 62156624 62156624 G C ASRGL1 Nonsynonymous SNV A171P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 329379 chr11 62295082 62295082 C T AHNAK Synonymous SNV K2269K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.04 329380 chr10 75563370 75563370 G A rs144915184 NDST2 Nonsynonymous SNV L702F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 329381 chr22 47311160 47311160 G A rs143123186 TBC1D22A-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 2.958 329382 chr7 2265101 2265101 T G rs1024508512 MAD1L1 Nonsynonymous SNV K79Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 329383 chr11 6245421 6245421 G A rs202191496 FAM160A2 Nonsynonymous SNV L66F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329384 chr9 73461313 73461313 G A rs779989690 TRPM3 Synonymous SNV F66F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.79 329385 chr11 6260499 6260499 G A rs188149923 CNGA4 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 329386 chr11 62751087 62751087 T C rs760023553 SLC22A6 Nonsynonymous SNV N184D 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 329387 chr21 37612111 37612111 C T rs577517221 DOP1B Synonymous SNV I975I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 329388 chr7 30951536 30951536 G A rs374468237 AQP1 Synonymous SNV E4E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.895 329389 chr11 64375346 64375346 C T rs751575732 NRXN2 Synonymous SNV E441E 0.001 0 0 0 1 0 0 0 0 0 0 0 9.452 329390 chrX 9912911 9912911 T C rs761513974 SHROOM2 Synonymous SNV N349N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.566 329391 chrX 102968561 102968561 C A rs145226297 TMEM31 Nonsynonymous SNV Q48K 0.002 0 0 0 2 0 0 0 1 0 0 0 26.5 329392 chr11 6550291 6550291 G A rs369157719 DNHD1 Nonsynonymous SNV E763K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.135 329393 chrX 30327072 30327072 C T rs773110929 NR0B1 Nonsynonymous SNV E137K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 329394 chr7 44113743 44113743 C T rs139371867 POLM Nonsynonymous SNV R353H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.739 329395 chr11 6588139 6588139 G A rs369645355 DNHD1 Synonymous SNV T3800T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.25 329396 chrX 36197538 36197538 G A rs186067101 CFAP47 Nonsynonymous SNV D2035N 0.001 0 0 0 1 0 0 0 0 0 0 0 1.744 329397 chrX 47486695 47486695 G A rs8177076 CFP Nonsynonymous SNV P204L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.612 329398 chrX 47774595 47774595 C G rs113131552 ZNF81 Nonsynonymous SNV L184V 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.167 329399 chr11 6646023 6646023 T C rs780922563 DCHS1 Nonsynonymous SNV N2408S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 329400 chrX 48371054 48371054 C T rs35018140 PORCN Synonymous SNV G211G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.55 329401 chrX 48374519 48374519 G A rs34252975 PORCN Synonymous SNV S304S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.07 329402 chr11 6806680 6806680 T C rs200132366 OR2AG1 Nonsynonymous SNV S138P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 329403 chr11 6806687 6806687 C T rs200964888 OR2AG1 Nonsynonymous SNV A140V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.022 329404 chrX 48559078 48559078 T C rs141290793 SUV39H1 Synonymous SNV R265R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.408 329405 chr11 66563826 66563826 G A rs377116422 C11orf80 Synonymous SNV V70V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 329406 chrX 48687887 48687887 C T rs140112568 ERAS Synonymous SNV G118G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.789 329407 chrX 48839478 48839478 G A rs7052213 GRIPAP1 Synonymous SNV L504L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.804 329408 chrX 48970655 48970655 C T rs34057359 GPKOW Synonymous SNV R445R 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 329409 chrX 49021370 49021370 C T rs199637499 MAGIX Nonsynonymous SNV P150L 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329410 chrX 49061798 49061798 A G rs143269092 CACNA1F Synonymous SNV F1900F 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 0.912 329411 chr11 6898042 6898042 C T rs187051778 OR10A4 Nonsynonymous SNV A55V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.787 329412 chrX 63615230 63615230 G C rs768461405 MTMR8 Nonsynonymous SNV T5R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 329413 chr7 51152902 51152902 G C rs147541675 COBL Nonsynonymous SNV R353G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 329414 chr11 63978219 63978219 C A FERMT3 Synonymous SNV P99P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.17 329415 chr11 1078666 1078666 C T rs531204958 MUC2 Nonsynonymous SNV P292S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 329416 chr11 111753297 111753297 T G C11orf1 Nonsynonymous SNV V84G 0 0 0.003 0 0 0 0 1 0 0 0 0 22 329417 chr22 24123440 24123440 G A MMP11 Nonsynonymous SNV E307K 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329418 chr22 24584245 24584245 G C rs201152759 SUSD2 Synonymous SNV V798V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.589 329419 chr7 76030339 76030339 G A rs557227426 SSC4D Nonsynonymous SNV P52L 0.001 0 0 0 1 0 0 0 0 0 0 0 19.88 329420 chr7 769332 769332 G A rs767022738 DNAAF5 Nonsynonymous SNV G210R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.34 329421 chrX 54956039 54956039 G A TRO Nonsynonymous SNV G492D 0.002 0 0 0 2 0 0 0 1 0 0 0 16.14 329422 chr7 82586041 82586041 C T rs200500023 PCLO Nonsynonymous SNV A1410T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 329423 chr22 30127254 30127254 G C rs773465589 ZMAT5 Nonsynonymous SNV P158R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 329424 chr11 118889920 118889920 G A rs781828088 TRAPPC4 Nonsynonymous SNV R10K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 329425 chr11 119001592 119001592 C T rs557100172 HINFP Synonymous SNV I113I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 329426 chr11 82443685 82443685 C G rs779493719 FAM181B Nonsynonymous SNV G363R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 329427 chrX 150789995 150789995 G A rs751590635 PASD1 Nonsynonymous SNV V117I 0.001 0 0 0 1 0 0 0 0 0 0 0 1.73 329428 chrX 153175306 153175306 C T rs3213439 ARHGAP4 Nonsynonymous SNV R768Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 329429 chrX 153209806 153209806 C T RENBP Nonsynonymous SNV R31H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 329430 chr7 97822562 97822562 C T rs528801436 LMTK2 Nonsynonymous SNV P929S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.145 329431 chr22 36922142 36922142 G C rs771276217 EIF3D Nonsynonymous SNV I9M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 329432 chrX 153662038 153662038 C T rs782597304 ATP6AP1 Nonsynonymous SNV A219V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 329433 chr11 92534900 92534900 G A rs376453680 FAT3 Synonymous SNV T2907T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.217 329434 chr7 99453280 99453280 C G CYP3A43 Nonsynonymous SNV T136S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.201 329435 chr22 37499452 37499452 G A rs143819129 TMPRSS6 Synonymous SNV P2P 0.001 0 0 0 1 0 0 0 0 0 0 0 7.083 329436 chr11 93796831 93796831 C T rs202005678 HEPHL1 Synonymous SNV D191D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.65 329437 chr11 93808359 93808359 G A rs147597778 HEPHL1 Synonymous SNV A508A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 329438 chr11 94261316 94261316 C T rs753569316 C11orf97 Nonsynonymous SNV P106L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 329439 chr11 124763804 124763804 C T rs748266690 ROBO4 Nonsynonymous SNV A341T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.02 329440 chr11 72004585 72004585 G A rs35401939 CLPB Synonymous SNV R591R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.115 329441 chr11 72040830 72040830 C G rs7938203 CLPB Nonsynonymous SNV R236T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 13.98 329442 chr11 73008389 73008389 T C rs61741436 P2RY6 Synonymous SNV L377L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.355 329443 chr22 38539157 38539157 G A rs185396488 PLA2G6 Nonsynonymous SNV P25L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.83 329444 chr22 38565250 38565250 G T rs758893865 PLA2G6 Nonsynonymous SNV P62T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 329445 chr22 43634897 43634897 C T rs200592539 SCUBE1 Nonsynonymous SNV R264Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 329446 chr10 127417610 127417610 T C rs777914566 EDRF1 Synonymous SNV H277H 0.002 0 0 0 2 0 0 0 0 0 0 0 3.306 329447 chr11 19955050 19955050 G A rs544523442 NAV2 Synonymous SNV P356P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 329448 chrX 2951252 2951252 C T rs780794500 ARSH Synonymous SNV S505S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.983 329449 chr11 26702713 26702713 C A SLC5A12 Nonsynonymous SNV G455V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329450 chr12 124175110 124175110 G A TCTN2 Nonsynonymous SNV A307T 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329451 chrX 26157782 26157782 G C rs181553624 MAGEB18 Nonsynonymous SNV G227A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 329452 chr10 16528449 16528449 T G PTER Synonymous SNV T28T 0.002 0 0 0 2 0 0 0 0 0 0 0 11.44 329453 chr11 3380572 3380572 C T ZNF195 Nonsynonymous SNV G484S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 329454 chr8 144944109 144944109 C T rs536640790 EPPK1 Nonsynonymous SNV D1105N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 329455 chr8 145111939 145111939 C T rs557568006 OPLAH Nonsynonymous SNV A540T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.341 329456 chr8 145580148 145580148 C T FBXL6 Nonsynonymous SNV G346E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.212 329457 chr11 46895306 46895306 T C rs7111229 LRP4-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.354 329458 chrX 99917221 99917221 G T SRPX2 Nonsynonymous SNV C71F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.6 329459 chr11 48152117 48152117 G C rs199624672 PTPRJ Nonsynonymous SNV Q488H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.275 329460 chr12 18534802 18534802 G A rs754552763 PIK3C2G Synonymous SNV P620P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 329461 chr12 18491478 18491478 G C rs368062288 PIK3C2G Nonsynonymous SNV G464A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329462 chr10 696311 696311 C T rs187635206 PRR26 Nonsynonymous SNV T50M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.069 329463 chr12 44148531 44148531 G T rs201122908 PUS7L Nonsynonymous SNV A173D 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 329464 chr1 1139015 1139015 A G rs773825402 TNFRSF18 Nonsynonymous SNV W242R 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 329465 chr12 132404097 132404097 G A rs200794033 ULK1 Nonsynonymous SNV R922Q 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329466 chr12 132404594 132404594 G A ULK1 Synonymous SNV Q958Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.105 329467 chr12 48921869 48921869 C T rs757714486 OR8S1 Nonsynonymous SNV P355S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.49 329468 chr1 2488025 2488025 C A rs538377825 TNFRSF14-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 8.388 329469 chr10 81318717 81318717 T C rs200876030 SFTPA2 Nonsynonymous SNV N83D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329470 chr10 81318721 81318721 C T rs143780551 SFTPA2 Synonymous SNV G81G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.793 329471 chr8 67576806 67576806 G A rs778416894 VCPIP1 Synonymous SNV T796T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.625 329472 chr8 67786585 67786585 A G rs61739940 MCMDC2 Nonsynonymous SNV Y40C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 329473 chr1 10720214 10720214 C T rs750287178 CASZ1 Synonymous SNV P295P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.453 329474 chr1 53558454 53558454 A C SLC1A7 Nonsynonymous SNV F196C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329475 chr1 53558455 53558455 A C SLC1A7 Nonsynonymous SNV F196V 0.001 0 0 0 1 0 0 0 0 0 0 0 23 329476 chr1 53558456 53558456 A C SLC1A7 Stop gain Y195X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 329477 chr1 12416013 12416013 A G rs146589155 VPS13D Nonsynonymous SNV Q3221R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 329478 chr11 5719751 5719751 G A rs774740628 TRIM22 Synonymous SNV R238R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.601 329479 chr12 54382991 54382991 A G HOXC10 Nonsynonymous SNV T264A 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 329480 chr9 107457166 107457166 A G rs373235779 OR13D1 Nonsynonymous SNV Y155C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 329481 chr11 59629153 59629153 C T rs760938016 TCN1 Nonsynonymous SNV A135T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 329482 chr12 56994181 56994181 G A rs752623582 BAZ2A Nonsynonymous SNV R1566W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 329483 chr12 5708775 5708775 C T rs199765638 ANO2 Nonsynonymous SNV R703Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 329484 chr9 114289805 114289805 A G ZNF483 Nonsynonymous SNV N44D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329485 chr12 6100987 6100987 G C VWF Nonsynonymous SNV Q2266E 0.001 0 0 0 1 0 0 0 0 0 0 0 19.1 329486 chr12 6439052 6439052 G A TNFRSF1A Nonsynonymous SNV P209S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 5.908 329487 chr1 22834550 22834550 C G rs371645627 ZBTB40 Nonsynonymous SNV L361V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 329488 chr11 62369923 62369923 C A rs893309986 EML3 Nonsynonymous SNV A870S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.39 329489 chr11 62437372 62437372 T G rs775569330 LBHD1 Nonsynonymous SNV E44D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 329490 chr11 62886300 62886300 G A rs760727756 SLC22A24 Nonsynonymous SNV S305L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.793 329491 chr11 64111488 64111488 C T rs146686061 CCDC88B Nonsynonymous SNV P492L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.916 329492 chr12 7045901 7045903 CAG - ATN1 Q502del 0.001 0 0 0 1 0 0 0 0 0 0 0 329493 chr11 6414607 6414607 G A rs767722360 SMPD1 Nonsynonymous SNV R418Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 329494 chr12 80190688 80190688 T C rs201175104 PPP1R12A Nonsynonymous SNV T723A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.73 329495 chr1 109170805 109170805 T C FAM102B Synonymous SNV S191S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.258 329496 chr12 80762087 80762087 G T rs374634079 OTOGL Nonsynonymous SNV A2196S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.03 329497 chr11 65347930 65347930 G A rs200313831 EHBP1L1 Nonsynonymous SNV R205Q 0 0.003 0.003 0 0 1 0 1 0 0 0 0 24.8 329498 chr11 65366975 65366975 G A rs756339382 MAP3K11 Nonsynonymous SNV S699L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 329499 chr11 6554344 6554344 T G DNHD1 Nonsynonymous SNV L812R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 329500 chr12 88535006 88535006 T C rs753760503 CEP290 Nonsynonymous SNV N27D 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.63 329501 chr1 36212472 36212472 C T rs765869017 CLSPN Nonsynonymous SNV G853R 0 0.003 0 0 0 1 0 0 0 0 0 0 34 329502 chr1 110009491 110009491 G A SYPL2 Nonsynonymous SNV R9H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 329503 chr1 36926335 36926337 TCT - MRPS15 K114del 0 0.003 0 0 0 1 0 0 0 0 0 0 329504 chr11 66247696 66247696 G T rs2279863 LOC101928069 0 0 0.007 0 0 0 0 2 0 0 1 0 10.85 329505 chr1 39824533 39824533 T C MACF1 Synonymous SNV L1974L 0 0.003 0 0 0 1 0 0 0 0 0 0 5.378 329506 chr11 6655211 6655211 G A rs749236736 DCHS1 Nonsynonymous SNV S676L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.05 329507 chr1 40092718 40092718 G A HEYL Nonsynonymous SNV L150F 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 329508 chr11 66999374 66999374 C G KDM2A Nonsynonymous SNV H474Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.03 329509 chr12 96374600 96374600 G C rs150083495 HAL Nonsynonymous SNV N235K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 329510 chr9 135277330 135277330 C T rs148838840 TTF1 Nonsynonymous SNV M293I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.392 329511 chr1 46658061 46658061 C A POMGNT1 Nonsynonymous SNV E422D 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 329512 chr9 136405770 136405770 G A rs548505359 ADAMTSL2 Nonsynonymous SNV V155M 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 329513 chr11 72409005 72409005 C T rs779963916 ARAP1 Synonymous SNV P590P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 329514 chr1 51061810 51061810 G A rs148072719 FAF1 Nonsynonymous SNV R275W 0 0.003 0 0 0 1 0 0 0 0 0 0 26 329515 chr1 53322964 53322964 G A rs190484906 ZYG11A Nonsynonymous SNV R184H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 329516 chr1 151678722 151678722 - TGC rs749033855 CELF3 Q323_R324insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 329517 chr13 113978764 113978764 C T rs372123065 GRTP1 Nonsynonymous SNV D231N 0.001 0 0 0 1 0 0 0 0 0 0 0 6.547 329518 chr13 114193707 114193707 C T TMCO3 Synonymous SNV L360L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.45 329519 chr13 20763337 20763337 G A rs111033298 GJB2 Synonymous SNV I128I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 11.26 329520 chr11 76954870 76954870 A G rs775969034 GDPD4 Synonymous SNV D370D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.158 329521 chr1 153906748 153906748 C T rs369242631 DENND4B Nonsynonymous SNV R946H 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 329522 chr13 24798158 24798158 G A SPATA13 Nonsynonymous SNV R364H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 329523 chr13 29599322 29599322 C T rs17072549 MTUS2 Synonymous SNV L163L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.21 329524 chr13 29599723 29599723 A G rs326505 MTUS2 Synonymous SNV K296K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.101 329525 chr11 86159296 86159296 C T rs755313918 ME3 Nonsynonymous SNV G378E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 329526 chr11 92714645 92714645 G C rs747148641 MTNR1B Nonsynonymous SNV D86H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 329527 chr1 84948669 84948669 T A RPF1 Nonsynonymous SNV N119K 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 329528 chr13 45533634 45533634 G A rs368322338 NUFIP1 Synonymous SNV N301N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.915 329529 chr9 35548167 35548167 G A RUSC2 Nonsynonymous SNV G550D 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 329530 chr9 439319 439319 C T rs140431229 DOCK8 Synonymous SNV C1618C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.04 329531 chr13 76395629 76395629 G A rs372508711 LMO7 Nonsynonymous SNV A515T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 329532 chr13 79951591 79951591 G A RBM26 Nonsynonymous SNV P84S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 329533 chr14 100847338 100847338 A G rs78359884 WDR25 Nonsynonymous SNV H26R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.033 329534 chr14 100404180 100404180 G A EML1 Nonsynonymous SNV V708I 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329535 chr12 119552154 119552154 G A rs200755711 SRRM4 Nonsynonymous SNV R117Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 329536 chr9 86616460 86616460 G A rs746788307 RMI1 Nonsynonymous SNV V187M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 329537 chr1 110950219 110950219 G C rs761053718 LAMTOR5 Nonsynonymous SNV H90Q 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 329538 chr1 114226267 114226269 AAG - rs766037852 MAGI3 R1360del 0 0.003 0 0 0 1 0 0 0 0 0 0 329539 chr12 124859008 124859008 G A NCOR2 Synonymous SNV A723A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.87 329540 chr1 145585540 145585540 C T rs782315481 PIAS3 Nonsynonymous SNV A602V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 329541 chr12 126942880 126942880 A G rs7954431 LINC02347 0 0 0.003 0 0 0 0 1 0 0 0 0 0.345 329542 chr14 102461385 102461385 G A rs202121407 DYNC1H1 Synonymous SNV G1132G 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.35 329543 chrX 114242535 114242535 G A rs199568621 IL13RA2 Synonymous SNV D319D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.89 329544 chrX 114244097 114244097 T C rs782559506 IL13RA2 Nonsynonymous SNV D280G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.998 329545 chrX 118767411 118767411 T C SEPTIN6 Nonsynonymous SNV E334G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 329546 chrX 135313784 135313784 C T rs777823602 MAP7D3 Synonymous SNV A409A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.626 329547 chr14 105407484 105407484 T C rs373792289 AHNAK2 Synonymous SNV P4668P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.506 329548 chr14 24550760 24550760 G A rs199590171 NRL Synonymous SNV S133S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 13.79 329549 chr14 24587638 24587638 C T rs151306695 DCAF11 Nonsynonymous SNV R207C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329550 chr1 156347811 156347811 C T rs76801898 RHBG Synonymous SNV A135A 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 329551 chr14 24886095 24886095 A C NYNRIN Nonsynonymous SNV T1714P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.216 329552 chr14 33068665 33068665 A G AKAP6 Nonsynonymous SNV E840G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 329553 chr12 2964316 2964316 C T rs201189252 TEX52 Stop gain W123X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 329554 chr14 36190915 36190915 T C rs775968575 RALGAPA1 Nonsynonymous SNV I749V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.077 329555 chr12 33532794 33532794 T C rs150486538 SYT10 Synonymous SNV P491P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.09 329556 chr14 45537681 45537681 G T rs150552457 TOGARAM1 Nonsynonymous SNV V1549L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 329557 chr12 46121577 46121577 G A rs767345175 LINC00938 0 0 0.003 0 0 0 0 1 0 0 0 0 7.371 329558 chrX 40572273 40572273 C T rs759092950 MED14 Nonsynonymous SNV R225H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 329559 chr12 49412527 49412527 A T DDN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.618 329560 chrX 50653788 50653788 T C BMP15 Nonsynonymous SNV V2A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329561 chr1 224477409 224477409 A G NVL Nonsynonymous SNV L262P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 329562 chr1 171496928 171496928 A G rs201338220 PRRC2C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 329563 chr1 171605527 171605527 G A rs202003673 MYOC Synonymous SNV T351T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 4.158 329564 chr1 171605582 171605582 C T rs746048852 MYOC Nonsynonymous SNV S333N 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 329565 chr12 52985371 52985371 G A rs552852610 KRT72 Synonymous SNV I280I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 329566 chr10 101648655 101648655 T C DNMBP Nonsynonymous SNV E703G 0 0.003 0 0 0 1 0 0 0 0 0 0 29.5 329567 chr14 75936115 75936115 C T rs147720024 JDP2 Synonymous SNV T143T 0.001 0 0 0 1 0 0 0 0 0 0 0 19.2 329568 chr10 105138277 105138277 A C rs371327914 TAF5 Synonymous SNV G361G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.317 329569 chr12 57424043 57424043 G A MYO1A Nonsynonymous SNV L848F 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 329570 chr12 58207073 58207073 T C AVIL Nonsynonymous SNV Q92R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 329571 chr14 81837403 81837403 G A rs146988761 STON2 Nonsynonymous SNV S167L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 329572 chr12 6436676 6436676 C T rs762521032 PLEKHG6 Nonsynonymous SNV R611C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 329573 chr12 64875754 64875754 G A TBK1 Synonymous SNV S315S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 329574 chr1 201798523 201798523 G C rs371859538 IPO9-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 16.63 329575 chr10 116620610 116620610 G A rs146879041 FAM160B1 Nonsynonymous SNV A684T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.9 329576 chr14 93723688 93723688 C A rs765493030 BTBD7 Synonymous SNV L136L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.03 329577 chr12 6973097 6973097 G A rs146230726 USP5 Synonymous SNV E686E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 329578 chr12 7528313 7528313 A G rs772366160 CD163L1 Nonsynonymous SNV V900A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.732 329579 chr12 7531588 7531588 C A CD163L1 Nonsynonymous SNV S796I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 329580 chr1 205238623 205238623 C T rs770197106 TMCC2 Synonymous SNV L206L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.772 329581 chr14 91804427 91804427 G A rs756666611 CCDC88C Synonymous SNV R324R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.66 329582 chr15 33878277 33878277 C T rs766442679 RYR3 Nonsynonymous SNV S583L 0.001 0 0 0 1 0 0 0 0 0 0 0 35 329583 chr2 11737927 11737927 A G GREB1 Nonsynonymous SNV S659G 0.001 0 0 0 1 0 0 0 0 0 0 0 0.344 329584 chr15 40583350 40583350 G A PLCB2 Nonsynonymous SNV P954S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.122 329585 chr13 103385954 103385954 A G rs143188223 CCDC168 Nonsynonymous SNV L5698P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 329586 chr2 20823765 20823765 G C rs372981605 HS1BP3 Nonsynonymous SNV L271V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 329587 chr13 103518991 103518991 C T rs778197574 BIVM-ERCC5, ERCC5 Nonsynonymous SNV R777C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 329588 chr1 227300442 227300442 A G CDC42BPA Nonsynonymous SNV V607A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.23 329589 chr2 26417472 26417472 C T rs541069396 HADHA Synonymous SNV A552A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 329590 chr13 111155230 111155230 G T rs12873113 COL4A2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.041 329591 chr1 228506715 228506715 G A rs372921390 OBSCN Synonymous SNV T4754T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.98 329592 chr15 55647467 55647467 C A DNAAF4-CCPG1 0.001 0 0 0 1 0 0 0 0 0 0 0 9.452 329593 chr15 55881002 55881002 C T rs145581831 PYGO1 Nonsynonymous SNV G17S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 329594 chr15 65110276 65110276 G C rs113634652 PIF1 Nonsynonymous SNV R515G 0.001 0 0 0 1 0 0 0 0 0 0 0 31 329595 chr15 45470364 45470364 G A rs150508860 SHF Synonymous SNV A213A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 329596 chr15 65459034 65459034 G A CLPX Nonsynonymous SNV P150S 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 329597 chr15 65792945 65792945 G A rs200120025 DPP8 Nonsynonymous SNV T182M 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 329598 chr13 76407186 76407186 G - LMO7 0 0 0.003 0 0 0 0 1 0 0 0 0 329599 chr13 77844551 77844551 T C rs373847200 MYCBP2 Synonymous SNV L356L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.104 329600 chr15 52656760 52656760 G A rs375151998 MYO5A Synonymous SNV T1100T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.54 329601 chr14 100363606 100363606 G A rs764781997 EML1 Nonsynonymous SNV A268T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 329602 chr14 101138673 101138673 T C rs11846102 LINC00523 0 0 0.007 0 0 0 0 2 0 0 1 0 2.14 329603 chr15 63852099 63852099 G A rs769098072 USP3 Nonsynonymous SNV V149M 0.001 0 0 0 1 0 0 0 0 0 0 0 33 329604 chr2 17962015 17962015 C G GEN1 Synonymous SNV S512S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.335 329605 chr14 105354102 105354102 C T rs752160900 CEP170B Nonsynonymous SNV R1106W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329606 chr10 72462161 72462161 G A rs775080060 ADAMTS14 Nonsynonymous SNV V206M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 329607 chr2 26540971 26540971 G C ADGRF3 Nonsynonymous SNV P67A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 329608 chr14 20770126 20770126 - A rs541292257 TTC5 0 0 0.003 0 0 0 0 1 0 0 0 0 329609 chr2 27263230 27263230 C T rs184236766 TMEM214 Synonymous SNV P558P 0 0.003 0 0 0 1 0 0 0 0 0 0 16.17 329610 chr14 22887319 22887319 C A rs947894948 LOC105370401 0 0 0.003 0 0 0 0 1 0 0 0 0 7.192 329611 chr15 78873213 78873213 A T rs201040941 CHRNA5 Nonsynonymous SNV Q56L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 329612 chr2 37035728 37035728 C A VIT Stop gain C465X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 329613 chr2 37035729 37035729 A G VIT Nonsynonymous SNV S466G 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 329614 chr10 95159209 95159209 G T MYOF Synonymous SNV G387G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.572 329615 chr12 132394813 132394813 C T ULK1 Nonsynonymous SNV H275Y 0.002 0 0 0 2 0 0 0 0 0 0 0 25 329616 chr14 45414430 45414430 G A rs762476519 KLHL28 Synonymous SNV L248L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.436 329617 chr14 45496564 45496564 G A rs141529951 TOGARAM1 Nonsynonymous SNV E1131K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 329618 chr10 98989591 98989591 T C ARHGAP19 Nonsynonymous SNV K413R 0 0.003 0 0 0 1 0 0 0 0 0 0 2.117 329619 chr15 90766793 90766793 C T rs762674729 SEMA4B Synonymous SNV G132G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.138 329620 chr14 53118959 53118959 T C ERO1A Nonsynonymous SNV K375E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 329621 chr2 73456037 73456037 G A rs199963053 PRADC1 Nonsynonymous SNV A111V 0 0.003 0 0 0 1 0 0 0 0 0 0 33 329622 chr2 73957142 73957143 AG - rs754976073 TPRKB S152Ffs*16 0 0.003 0 0 0 1 0 0 0 0 0 0 329623 chr2 152404881 152404881 G T rs202139330 NEB Nonsynonymous SNV L4999I 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.7 329624 chr14 65031474 65031479 CACCTG - PPP1R36 P64_A65del 0 0 0.003 0 0 0 0 1 0 0 0 0 329625 chr14 69557849 69557849 G A DCAF5 Stop gain Q302X 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 329626 chr2 161052120 161052120 G T ITGB6 Nonsynonymous SNV A23E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 329627 chr2 99013631 99013631 A G CNGA3 Synonymous SNV E648E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.173 329628 chr12 333669 333669 C T SLC6A13 Synonymous SNV L265L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.16 329629 chr2 99448921 99448921 G A KIAA1211L Nonsynonymous SNV P144S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 329630 chr16 27784506 27784506 - A KIAA0556 Frameshift insertion I1431Nfs*40 0.001 0 0 0 1 0 0 0 0 0 0 0 329631 chr16 2809170 2809170 A G rs771119109 SRRM2 Nonsynonymous SNV H229R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.012 329632 chr14 81609692 81609692 G A rs375393735 TSHR Synonymous SNV L430L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.099 329633 chr16 29821453 29821453 A G rs370120877 MAZ Synonymous SNV A140A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.016 329634 chr16 29979492 29979492 G A rs200066942 TMEM219 Nonsynonymous SNV A168T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 329635 chr2 113819725 113819725 A G rs28938777 IL36RN Nonsynonymous SNV N47S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21.8 329636 chr2 113940402 113940402 G A PSD4 Synonymous SNV R123R 0 0.003 0 0 0 1 0 0 0 0 0 0 6.234 329637 chr2 120097501 120097501 A G C2orf76 Nonsynonymous SNV L12P 0 0.003 0 0 0 1 0 0 0 0 0 0 29.4 329638 chr2 128408750 128408750 C T rs201325616 GPR17 Synonymous SNV Y147Y 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 8.539 329639 chr2 133540132 133540132 G A NCKAP5 Nonsynonymous SNV P1418S 0 0.003 0 0 0 1 0 0 0 0 0 0 14.14 329640 chr15 101433182 101433182 C T rs769240976 ALDH1A3 Nonsynonymous SNV P170S 0 0 0.003 0 0 0 0 1 0 0 0 0 31 329641 chr15 102255076 102255076 C G rs200819268 TARSL2 Nonsynonymous SNV E219D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 329642 chr15 21937082 21937082 C T LOC646214 0 0 0.003 0 0 0 0 1 0 0 0 0 9.837 329643 chr15 21938118 21938118 A G LOC646214 0 0 0.003 0 0 0 0 1 0 0 0 0 7.507 329644 chr15 22833545 22833545 G C rs370649864 TUBGCP5 Synonymous SNV P7P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.203 329645 chr15 25427874 25427874 G A SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 1.496 329646 chr15 25474481 25474481 G A rs117180849 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 1.902 329647 chr11 120984338 120984338 A G rs144682235 TECTA Nonsynonymous SNV Q234R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.83 329648 chr16 56704846 56704846 G A MT1H Nonsynonymous SNV C44Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329649 chr16 56899304 56899304 A - SLC12A3 M53Cfs*61 0.001 0 0 0 1 0 0 0 0 0 0 0 329650 chr2 152584305 152584305 G A rs375909006 NEB Nonsynonymous SNV P65L 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 329651 chr2 162251710 162251710 A G PSMD14 Nonsynonymous SNV N256S 0 0.003 0 0 0 1 0 0 0 0 0 0 16.93 329652 chr2 167318979 167318979 T C rs771820272 SCN7A Nonsynonymous SNV N335D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 329653 chr16 67428913 67428913 G A rs769869424 ZDHHC1 Nonsynonymous SNV R408W 0.001 0 0 0 1 0 0 0 0 0 0 0 12.86 329654 chr16 597435 597435 G A rs377457205 CAPN15 Synonymous SNV A199A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.929 329655 chr2 171812951 171812951 G T rs139789336 GORASP2 Nonsynonymous SNV Q167H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 329656 chr2 179596561 179596561 T C TTN Nonsynonymous SNV R4437G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.114 329657 chr16 709275 709275 C T rs199852862 WDR90 Nonsynonymous SNV A1028V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 329658 chr11 129817205 129817205 G A rs145812928 PRDM10 Nonsynonymous SNV P33S 0 0.003 0 0 0 1 0 0 0 0 0 0 21.2 329659 chr15 55651703 55651703 A C rs758888174 CCPG1 Nonsynonymous SNV S756R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 329660 chr16 74335038 74335038 C G rs138324633 PSMD7 Synonymous SNV V85V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.39 329661 chr15 59368259 59368259 G A rs762937096 RNF111 Nonsynonymous SNV R598Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329662 chr2 192701001 192701001 G C rs770253521 CAVIN2 Nonsynonymous SNV A309G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 329663 chr2 192701002 192701002 C A rs776025612 CAVIN2 Nonsynonymous SNV A309S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.386 329664 chr2 197634728 197634728 C T rs143389567 GTF3C3 Nonsynonymous SNV E766K 0 0.003 0.003 0 0 1 0 1 0 0 0 0 18.49 329665 chr15 66842401 66842401 G C LCTL Nonsynonymous SNV I349M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.57 329666 chr15 69728069 69728069 G A rs543990042 KIF23 Nonsynonymous SNV V301M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 329667 chr13 102231676 102231676 G C rs753390272 ITGBL1 Nonsynonymous SNV A68P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.92 329668 chr11 2182054 2182056 AGA - INS, INS-IGF2 F49del 0 0.003 0 0 0 1 0 0 0 0 0 0 329669 chr15 74426424 74426424 G A ISLR2 Synonymous SNV E443E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 329670 chr15 74703962 74703962 G A rs779623865 SEMA7A Synonymous SNV L490L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 329671 chr16 845754 845754 C T rs191366820 CHTF18 Nonsynonymous SNV R749C 0.001 0 0 0 1 0 0 0 0 0 0 0 28 329672 chr15 75500811 75500811 T G rs370623102 C15orf39 Nonsynonymous SNV C808G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.74 329673 chr16 88502825 88502825 C T ZNF469 Nonsynonymous SNV R2983W 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 329674 chr2 215593512 215593512 T C BARD1 Nonsynonymous SNV D228G 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.57 329675 chr15 80855469 80855469 G A rs141193900 ARNT2 Nonsynonymous SNV R402Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 329676 chr17 11659960 11659960 C T rs139421775 DNAH9 Nonsynonymous SNV R2272C 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329677 chr17 1386158 1386158 C T rs144111021 MYO1C Synonymous SNV L181L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.361 329678 chr2 220501593 220501593 C T rs148142250 SLC4A3 Synonymous SNV Y871Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 329679 chr2 226447067 226447067 C T rs768711487 NYAP2 Nonsynonymous SNV P312S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.59 329680 chr11 47594937 47594937 C T rs758643174 KBTBD4 Nonsynonymous SNV V417M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 329681 chr13 37394055 37394055 G C RFXAP Synonymous SNV G187G 0.002 0 0 0 2 0 0 0 0 0 0 0 1.767 329682 chr15 99192995 99192995 C T rs565945913 IRAIN 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 329683 chr15 99452002 99452002 A G rs117440569 IGF1R Nonsynonymous SNV M446V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.5 329684 chr17 1961951 1961951 C A rs763628789 HIC1 Nonsynonymous SNV A675E 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 329685 chr2 233393266 233393266 G A rs748665935 CHRND Nonsynonymous SNV G122S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 329686 chr13 53420865 53420865 A G rs779117255 PCDH8 Synonymous SNV Y569Y 0.001 0 0 0 1 0 0 0 0 0 0 0 1.32 329687 chr16 1574788 1574788 C G rs1006412072 IFT140 Nonsynonymous SNV Q998H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 329688 chr16 15831403 15831403 C T rs200315340 MYH11 Nonsynonymous SNV D1066N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 329689 chr16 2012439 2012439 C T SNORA10 0 0 0.003 0 0 0 0 1 0 0 0 0 0.841 329690 chr2 241872189 241872189 G - CROCC2 R372Pfs*3 0 0.003 0 0 0 1 0 0 0 0 0 0 329691 chr16 20999285 20999285 C A rs892509191 DNAH3 Nonsynonymous SNV G2189V 0 0 0.003 0 0 0 0 1 0 0 0 0 30 329692 chr3 42955958 42955958 G T ZNF662 Nonsynonymous SNV E157D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 329693 chr2 242572350 242572350 G C THAP4 Nonsynonymous SNV L408V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 329694 chr16 2293335 2293335 T G rs375350226 ECI1 Nonsynonymous SNV I183L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 329695 chr3 43743810 43743810 C T ABHD5 Synonymous SNV V79V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 329696 chr16 2321827 2321827 C T rs373106490 LOC106660606, MIR940 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 329697 chr16 2336807 2336807 C T rs34671771 ABCA3 Nonsynonymous SNV V1056I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.776 329698 chr16 24815619 24815619 G C TNRC6A Nonsynonymous SNV E1272D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.136 329699 chr17 37899501 37899501 C T rs780450400 GRB7 Nonsynonymous SNV R178C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 329700 chr17 38910712 38910712 T G rs76557891 KRT25 Synonymous SNV A146A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 4.755 329701 chr16 30976960 30976960 C T SETD1A Synonymous SNV S586S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 329702 chr3 12626750 12626750 G T RAF1 Synonymous SNV A399A 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 329703 chr16 31157127 31157127 G A rs553867774 PRSS36 Nonsynonymous SNV R235C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329704 chr16 31497497 31497497 A G SLC5A2 Nonsynonymous SNV M159V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 329705 chr14 21161956 21161956 A G rs758743573 ANG Nonsynonymous SNV K78R 0.002 0 0 0 2 0 0 0 0 0 0 0 6.241 329706 chr3 54930821 54930821 C T rs774431463 CACNA2D3 Synonymous SNV D764D 0.001 0 0.003 0 1 0 0 1 0 0 0 0 18.1 329707 chr3 31743923 31743923 G A rs138576814 OSBPL10 Synonymous SNV G327G 0 0.003 0 0 0 1 0 0 0 0 0 0 15.79 329708 chr3 57132358 57132358 G C rs867131722 IL17RD Nonsynonymous SNV A458G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.595 329709 chr16 50746017 50746017 G A rs369766227 NOD2 Nonsynonymous SNV S705N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 329710 chr3 58622103 58622103 G A rs374821976 FAM3D Nonsynonymous SNV S168F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.43 329711 chr14 24610396 24610396 A C rs139086825 EMC9 Nonsynonymous SNV C40G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 329712 chr11 5809650 5809650 G A rs139273155 OR52N1 Nonsynonymous SNV R133C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 329713 chr3 42734301 42734301 C T rs539401061 HHATL Nonsynonymous SNV R486H 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 329714 chr16 71466135 71466135 C T rs941118266 TLE7 Nonsynonymous SNV A163T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.223 329715 chr3 45942704 45942704 G A rs199541347 CCR9 Nonsynonymous SNV V130M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 329716 chr16 72057419 72057419 C T rs199666119 DHODH Synonymous SNV D340D 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 17.83 329717 chr16 72822209 72822209 C T ZFHX3 Synonymous SNV Q2408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.395 329718 chr11 60703998 60703998 G T rs112750955 TMEM132A Nonsynonymous SNV W898C 0 0.003 0 0 0 1 0 0 0 0 0 0 29 329719 chr3 46755747 46755747 G A rs61740484 PRSS50 Nonsynonymous SNV R239C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 15.98 329720 chr16 72992505 72992505 C T rs150708008 ZFHX3 Nonsynonymous SNV A514T 0 0 0.007 0 0 0 0 2 0 0 0 0 Uncertain significance 12.93 329721 chr3 46784548 46784548 G T rs78954493 PRSS45P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.629 329722 chr3 48520628 48520628 G T rs145843526 SHISA5 Stop gain S84X 0 0.003 0 0 0 1 0 0 0 0 0 0 32 329723 chr3 49163234 49163234 G A rs151134957 LAMB2 Nonsynonymous SNV R812C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.3 329724 chr17 4439578 4439578 G A rs370158355 SPNS2 Synonymous SNV Q488Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.62 329725 chr17 48742597 48742597 C T rs145605804 ABCC3 Synonymous SNV R474R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 329726 chr14 62204900 62204900 G A rs753487050 HIF1A Nonsynonymous SNV A473T 0.002 0 0 0 2 0 0 0 0 0 0 0 19.92 329727 chr17 4575740 4575740 A G rs199636910 PELP1 Nonsynonymous SNV V849A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.925 329728 chr3 50311476 50311476 G A rs61737738 SEMA3B Synonymous SNV P32P 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 20.2 329729 chr3 50329680 50329680 G T rs113502427 IFRD2 Nonsynonymous SNV T73K 0 0.003 0 0 0 1 0 0 0 0 0 0 15.1 329730 chr16 84485637 84485637 G A rs199755716 ATP2C2 Nonsynonymous SNV E440K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.789 329731 chr3 122645325 122645325 G T rs539416552 SEMA5B Synonymous SNV G292G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.91 329732 chr3 50402180 50402180 C T rs72934809 CACNA2D2 Nonsynonymous SNV V1119I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.45 329733 chr17 55184135 55184135 G A AKAP1 Nonsynonymous SNV S437N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 329734 chr3 52521429 52521431 GAG - rs748945023 NISCH E647del 0 0.003 0 0 0 1 0 0 0 0 0 0 329735 chr16 88039740 88039740 C T rs777858600 BANP Nonsynonymous SNV P142L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329736 chr3 55733439 55733439 C T rs188570376 ERC2 Synonymous SNV S936S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.47 329737 chr3 126224802 126224802 C T rs377594542 UROC1 Nonsynonymous SNV V219I 0.001 0 0 0 1 0 0 0 0 0 0 0 24 329738 chr3 127336197 127336197 G A MCM2 Nonsynonymous SNV V617I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 329739 chr3 58382847 58382847 C T rs372379383 PXK Nonsynonymous SNV R165W 0 0.003 0 0 0 1 0 0 0 0 0 0 30 329740 chr16 88802619 88802619 G A rs749252740 PIEZO1 Synonymous SNV P498P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 329741 chr3 70014338 70014338 C A MITF Nonsynonymous SNV A400D 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 329742 chr16 88891273 88891273 T C rs145583190 GALNS Nonsynonymous SNV I197V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 329743 chr14 77493767 77493767 - TGCTGA IRF2BPL Q122_Q123insHQ 0.001 0 0 0 1 0 0 0 0 0 0 0 329744 chr3 73618422 73618422 G A rs191057429 LOC101927296 0 0.003 0 0 0 1 0 0 0 0 0 0 0.629 329745 chr3 78719410 78719410 C G ROBO1 Nonsynonymous SNV V426L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 329746 chr3 96533504 96533504 C G EPHA6 Nonsynonymous SNV P13A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.198 329747 chr3 97583331 97583331 C G rs778138108 CRYBG3 Nonsynonymous SNV H163D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.038 329748 chr16 90096067 90096067 G A rs12925087 GAS8-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.283 329749 chr3 98251179 98251179 C T rs746880733 GPR15 Nonsynonymous SNV T101M 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 329750 chr3 149485065 149485065 G C ANKUB1 Nonsynonymous SNV P462A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 329751 chr17 11502134 11502148 GGGCCCGAGCCTCCA - DNAH9 E109_P113del 0 0 0.003 0 0 0 0 1 0 0 0 0 329752 chr3 101520742 101520742 A G rs772461123 NXPE3 Nonsynonymous SNV K253E 0 0.003 0 0 0 1 0 0 0 0 0 0 15.7 329753 chr17 71239075 71239075 C T rs201221175 C17orf80 Synonymous SNV F518F 0.003 0 0 0 3 0 0 0 0 0 0 0 11.17 329754 chr14 95030230 95030230 A G rs5509 SERPINA4 Synonymous SNV T174T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 329755 chr3 111312538 111312538 C T ZBED2 Nonsynonymous SNV E171K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 329756 chr17 1639411 1639411 G A rs377276139 WDR81 Nonsynonymous SNV V599M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 329757 chr3 113152446 113152446 C T rs146569166 CFAP44 Synonymous SNV K22K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 8.496 329758 chr3 118913160 118913160 G A rs149940522 UPK1B Nonsynonymous SNV R188H 0 0.003 0.003 0 0 1 0 1 0 0 0 0 22.7 329759 chr15 102359308 102359308 C T rs770181828 OR4F15 Nonsynonymous SNV H307Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.291 329760 chr17 73870722 73870722 C T rs763401208 TRIM47 Nonsynonymous SNV A587T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.975 329761 chr3 122835145 122835145 C A rs747066440 PDIA5 Synonymous SNV A203A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.63 329762 chr17 74725836 74725836 G C rs993992164 METTL23 Nonsynonymous SNV W15S 0.003 0 0 0 3 0 0 0 0 0 0 0 29.2 329763 chr3 124689591 124689591 T C HEG1 Nonsynonymous SNV T1351A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 329764 chr17 74733093 74733093 G A SRSF2 Synonymous SNV Y50Y 0.003 0 0 0 3 0 0 0 0 0 0 0 8.228 329765 chr17 2291223 2291223 G A rs375493538 MNT Synonymous SNV L310L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.502 329766 chr17 26851943 26851943 C T rs62640040 FOXN1 Synonymous SNV N182N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.76 329767 chr17 79866779 79866779 A G rs35473202 PCYT2 Nonsynonymous SNV Y105H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.66 329768 chr3 143412144 143412144 A T SLC9A9 Nonsynonymous SNV I180N 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 329769 chr17 80019084 80019084 C T rs754501147 DUS1L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 329770 chr17 38172072 38172072 G C rs139072004 CSF3 Nonsynonymous SNV D57H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 329771 chr17 38949446 38949446 T C rs142227683 KRT28 Nonsynonymous SNV K405E 0 0 0.003 0 0 0 0 1 0 0 0 0 19.47 329772 chr12 103696330 103696330 G A rs919261657 C12orf42 Synonymous SNV A213A 0 0.003 0 0 0 1 0 0 0 0 0 0 10.85 329773 chr3 169518470 169518470 G A LRRC34 Stop gain R244X 0 0.003 0 0 0 1 0 0 0 0 0 0 37 329774 chr4 13545730 13545730 G C NKX3-2 Nonsynonymous SNV S103R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.62 329775 chr12 110011210 110011210 T C MMAB Nonsynonymous SNV R26G 0 0.003 0 0 0 1 0 0 0 0 0 0 18.4 329776 chr18 28934293 28934293 C T rs149191001 DSG1 Nonsynonymous SNV R712C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 329777 chr18 29055705 29055705 G A rs144985839 DSG3 Nonsynonymous SNV V828M 0.001 0 0 0 1 0 0 0 0 0 0 0 15.25 329778 chr17 42331981 42331981 C T rs745877067 SLC4A1 Nonsynonymous SNV G647D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 329779 chr4 37831703 37831703 G A rs749686877 PGM2 Nonsynonymous SNV G67R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 329780 chr12 1137164 1137164 A G ERC1 Nonsynonymous SNV H32R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 329781 chr12 113758466 113758466 T C SLC8B1 Nonsynonymous SNV N149S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 329782 chr15 76587997 76587997 T C rs779892899 ETFA Nonsynonymous SNV I41V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.029 329783 chr3 194362923 194362923 G A rs201450171 LSG1 Synonymous SNV P617P 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.68 329784 chr4 983938 983938 G C SLC26A1 Nonsynonymous SNV D263E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 329785 chr18 61647080 61647080 T C SERPINB8 Nonsynonymous SNV S72P 0.001 0 0 0 1 0 0 0 0 0 0 0 18.91 329786 chr4 3224179 3224179 C A HTT Nonsynonymous SNV P2479T 0 0.003 0 0 0 1 0 0 0 0 0 0 32 329787 chr17 56056599 56056599 T G VEZF1 Nonsynonymous SNV Q351P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.032 329788 chr17 56599162 56599162 T C rs768870602 SEPTIN4 Nonsynonymous SNV I185V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 329789 chr17 59482083 59482083 C T TBX2 Nonsynonymous SNV T335I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.68 329790 chr4 79366891 79366891 G A rs35536729 FRAS1 Nonsynonymous SNV V1961I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 329791 chr12 133780080 133780081 AG - rs765833287 ZNF268 R604Nfs*9 0 0.003 0 0 0 1 0 0 0 0 0 0 329792 chr17 61901478 61901478 C T rs200270895 FTSJ3 Nonsynonymous SNV E374K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 329793 chr17 62076673 62076673 T C rs4968682 PRR29-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 1.756 329794 chr4 8224615 8224615 C T rs113258718 SH3TC1 Synonymous SNV S311S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.67 329795 chr17 65040969 65040969 G A rs918445063 CACNG1 Nonsynonymous SNV D65N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.63 329796 chr12 234985 234985 C T rs782489625 IQSEC3 Synonymous SNV P270P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.972 329797 chr4 15626941 15626941 T A rs141842445 FBXL5 Nonsynonymous SNV E594V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 329798 chr16 1449377 1449377 G A rs778303849 UNKL Synonymous SNV Y244Y 0.001 0 0 0 1 0 0 0 0 0 0 0 9.798 329799 chr17 6917928 6917928 G C rs312464 RNASEK-C17orf49 0 0 0.007 0 0 0 0 2 0 0 1 0 5.643 329800 chr17 7129626 7129626 C A DVL2 Nonsynonymous SNV R590L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 329801 chr4 103611909 103611909 C T rs763849774 MANBA Stop gain W231X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic 40 329802 chr17 72998245 72998245 G A rs942465620 CDR2L Nonsynonymous SNV R143Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 329803 chr19 13223591 13223591 C T rs143907938 TRMT1 Synonymous SNV A266A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.16 329804 chr17 73567087 73567087 G A rs979947702 LLGL2 Synonymous SNV A694A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.75 329805 chr17 73840414 73840414 G A rs752295384 UNC13D Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 329806 chr17 74134119 74134119 A T rs201514684 FOXJ1 Nonsynonymous SNV F194Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 329807 chr17 7578420 7578420 C T rs757544615 TP53 Synonymous SNV T38T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.34 329808 chr19 15230007 15230007 G A rs781530076 ILVBL Synonymous SNV L341L 0.001 0 0 0 1 0 0 0 0 0 0 0 2.887 329809 chr4 68497478 68497478 G C UBA6 Nonsynonymous SNV Q736E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 329810 chr12 48543262 48543263 TT - rs745592038 ASB8 K251Nfs*10 0 0.003 0 0 0 1 0 0 0 0 0 0 329811 chr19 1555808 1555808 G A MEX3D Synonymous SNV A570A 0.001 0 0 0 1 0 0 0 0 0 0 0 3.325 329812 chr17 76558052 76558052 A G rs61741385 DNAH17 Nonsynonymous SNV M527T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.12 329813 chr16 30779560 30779560 A T RNF40 Nonsynonymous SNV E463V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.497 329814 chr4 74447904 74447904 A - rs764747553 RASSF6 0 0.003 0 0 0 1 0 0 0 0 0 0 329815 chr17 7750745 7750745 G A rs199635992 KDM6B Nonsynonymous SNV R411Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 329816 chr12 50027309 50027309 A G rs766132488 PRPF40B Nonsynonymous SNV K165E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 329817 chr4 76956431 76956431 C T rs773420418 CXCL11 Synonymous SNV V42V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.55 329818 chr16 31230673 31230673 G C TRIM72 Nonsynonymous SNV A184P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.17 329819 chr12 51739606 51739606 C T rs765064498 CELA1 Synonymous SNV E24E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.55 329820 chr17 79526432 79526432 G A rs201095089 NPLOC4 Synonymous SNV G565G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.4 329821 chr4 84502765 84502765 C T rs149617166 GPAT3 Stop gain R87X 0 0.003 0 0 0 1 0 0 0 0 0 0 39 329822 chr12 52709687 52709687 C T KRT83 Nonsynonymous SNV E418K 0 0.003 0 0 0 1 0 0 0 0 0 0 Pathogenic 35 329823 chr19 18974352 18974352 G T rs200092149 UPF1 Synonymous SNV P913P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 329824 chr4 177041098 177041098 T C rs905712740 WDR17 Nonsynonymous SNV W130R 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 329825 chr17 8076796 8076796 T C rs199653025 SNORD118 0 0 0.003 0 0 0 0 1 0 0 0 0 6.903 329826 chr19 19576347 19576347 G C rs375586614 GATAD2A Nonsynonymous SNV E65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 329827 chr19 18710433 18710433 G T rs761942142 CRLF1 Nonsynonymous SNV N113K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 329828 chr17 909373 909373 - G rs750897785 ABR Frameshift insertion I294Hfs*46 0 0 0.003 0 0 0 0 1 0 0 0 0 329829 chr18 10789303 10789303 G A rs757523983 PIEZO2 Nonsynonymous SNV A648V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.299 329830 chr19 20807171 20807171 C A ZNF626 Synonymous SNV L504L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.007 329831 chr4 111434658 111434658 A G ENPEP Nonsynonymous SNV T466A 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 329832 chr4 113353694 113353694 G A rs755915623 ALPK1 Synonymous SNV E919E 0 0.003 0 0 0 1 0 0 0 0 0 0 8.366 329833 chr16 55706070 55706070 G A rs369933850 SLC6A2 Synonymous SNV P104P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 329834 chr4 113574284 113574284 G A rs148722939 LARP7 Nonsynonymous SNV D503N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 329835 chr19 23406790 23406790 C T rs200912228 ZNF724 Nonsynonymous SNV R86Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.148 329836 chr16 57238577 57238577 G A rs781405457 RSPRY1 Nonsynonymous SNV V3I 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 329837 chr12 56077691 56077691 T C rs369422527 METTL7B Nonsynonymous SNV I198T 0 0.003 0 0 0 1 0 0 0 0 0 0 16 329838 chr19 35422806 35422806 C T rs764919747 ZNF30 Synonymous SNV F23F 0.001 0 0 0 1 0 0 0 0 0 0 0 16 329839 chr18 32822581 32822581 T C rs141163603 ZNF397 Synonymous SNV F49F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.904 329840 chr18 32834028 32834028 G T rs200557192 ZSCAN30 Nonsynonymous SNV Q104K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.341 329841 chr18 43481052 43481052 C A EPG5 Nonsynonymous SNV V1519L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.25 329842 chr19 36019003 36019003 C T SBSN Nonsynonymous SNV A61T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 329843 chr4 156629402 156629402 G T GUCY1A1 Nonsynonymous SNV R111I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.7 329844 chr12 6672570 6672570 G A rs114838415 NOP2 Synonymous SNV L263L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.18 329845 chr12 6672928 6672928 C G rs115447939 NOP2 Nonsynonymous SNV W176C 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 23.9 329846 chr12 6675501 6675501 C A NOP2 Synonymous SNV G80G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.549 329847 chr12 6752738 6752738 G A rs34652723 ACRBP Synonymous SNV Y348Y 0 0.003 0 0 0 1 0 0 0 0 0 0 7.558 329848 chr12 6754479 6754479 A T rs35729062 ACRBP Nonsynonymous SNV S128T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 329849 chr4 169176995 169176995 C T rs373387038 DDX60 Nonsynonymous SNV A1142T 0 0.003 0 0 0 1 0 0 0 0 0 0 5.191 329850 chr18 61562523 61562523 C G rs746442179 SERPINB2 Nonsynonymous SNV A65G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 329851 chr19 37676516 37676516 T C rs1610558 ZNF585B Synonymous SNV K641K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.069 329852 chr19 37879812 37879812 A G rs746140427 ZNF527 Synonymous SNV S287S 0.001 0 0 0 1 0 0 0 0 0 0 0 3.424 329853 chr18 67836155 67836155 C T rs370094779 RTTN Nonsynonymous SNV R542Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 329854 chr19 38655484 38655484 C T rs764959302 SIPA1L3 Synonymous SNV S1382S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.81 329855 chr18 6955676 6955676 G T rs949215 LOC101927188 0 0 0.003 0 0 0 0 1 0 0 0 0 0.686 329856 chr19 38858742 38858742 C G CATSPERG Synonymous SNV A955A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.798 329857 chr18 6958538 6958538 C T rs756727988 LAMA1 Synonymous SNV T2634T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 329858 chr19 38993243 38993243 G A rs771501586 RYR1 Nonsynonymous SNV G2571S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 329859 chr12 7867871 7867871 G A rs767695227 DPPA3 Nonsynonymous SNV A59T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.007 329860 chr19 39591996 39591996 G C ACP7 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 329861 chr19 39820209 39820209 C A GMFG Nonsynonymous SNV L45F 0.001 0 0 0 1 0 0 0 0 0 0 0 28.8 329862 chr18 77246797 77246797 C T rs201643124 NFATC1 Nonsynonymous SNV T409M 0 0 0.003 0 0 0 0 1 0 0 0 0 19.24 329863 chr18 77401947 77401947 C A rs142930716 LOC284241 0 0 0.003 0 0 0 0 1 0 0 0 0 6.826 329864 chr5 73109431 73109431 C T ARHGEF28 Synonymous SNV D6D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.31 329865 chr5 1035555 1035555 G A rs76030494 NKD2 Nonsynonymous SNV R209K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.249 329866 chr5 74518128 74518128 C T rs952567311 ANKRD31 Synonymous SNV E78E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.823 329867 chr5 1216787 1216787 C T rs60893203 SLC6A19 Synonymous SNV D334D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 11.02 329868 chr19 10421537 10421537 G C FDX2 Synonymous SNV P132P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.563 329869 chr16 88501147 88501147 C A rs560708919 ZNF469 Synonymous SNV P2423P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.93 329870 chr12 98926748 98926748 T G rs35998138 TMPO Nonsynonymous SNV L238R 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 21 329871 chr12 98926912 98926912 T G rs35645287 TMPO Nonsynonymous SNV S293A 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 17.46 329872 chr12 98927469 98927469 G C rs35761089 TMPO Nonsynonymous SNV K478N 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.795 329873 chr12 99071220 99071220 C T rs771761157 APAF1 Nonsynonymous SNV T593M 0 0.003 0 0 0 1 0 0 0 0 0 0 21.8 329874 chr13 100741407 100741407 G T rs922002208 PCCA Synonymous SNV L11L 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 2.362 329875 chr19 11891467 11891467 A G rs767613251 ZNF441 Synonymous SNV G276G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.516 329876 chr19 12126332 12126332 - TT rs778889513 ZNF433 Stop gain Y450* 0 0 0.003 0 0 0 0 1 0 0 0 0 329877 chr5 95128802 95128802 C T RHOBTB3 Nonsynonymous SNV S587L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 329878 chr19 13322989 13322989 G T rs751515136 CACNA1A Nonsynonymous SNV D2078E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.8 329879 chr19 14585024 14585024 C T rs757571359 PTGER1 Nonsynonymous SNV A37T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.115 329880 chr19 39229238 39229238 C T rs148191501 CAPN12 Synonymous SNV A260A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 329881 chr19 46998307 46998307 T C PNMA8B Nonsynonymous SNV D139G 0.001 0 0 0 1 0 0 0 0 0 0 0 6.737 329882 chr5 71743182 71743182 G A rs79076596 ZNF366 Synonymous SNV D529D 0 0.003 0 0 0 1 0 0 0 0 0 0 5.546 329883 chr19 17516620 17516620 C T rs28413174 BISPR 0 0 0.003 0 0 0 0 1 0 0 0 0 8.918 329884 chr5 74325100 74325100 C T rs370888383 GCNT4 Nonsynonymous SNV V255M 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 329885 chr13 33704323 33704323 G C STARD13 Nonsynonymous SNV P156R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.303 329886 chr19 18266956 18266956 C T PIK3R2 Synonymous SNV R89R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.941 329887 chr19 49167429 49167453 TGCTGGTAGCCAGGGCCACAGCGGT - rs780133035 NTN5 N306Rfs*45 0.001 0 0 0 1 0 0 0 0 0 0 0 329888 chr19 18679324 18679324 C T rs751651538 KXD1 Synonymous SNV P138P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.336 329889 chr19 19868623 19868623 C T rs152337 LINC00663 0 0 0.007 0 0 0 0 2 0 0 1 0 2.755 329890 chr13 50115084 50115084 G A rs369848049 RCBTB1 Synonymous SNV H461H 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 11.39 329891 chr5 82816922 82816922 C G VCAN Nonsynonymous SNV L933V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 329892 chr19 23927795 23927795 G A rs200245616 ZNF681 Nonsynonymous SNV T186I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 329893 chr13 99582462 99582462 G A rs775087973 DOCK9 Nonsynonymous SNV A99V 0 0.003 0 0 0 1 0 0 0 0 0 0 19.58 329894 chr19 51649313 51649313 G A rs374517970 SIGLEC7 Nonsynonymous SNV R228Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.386 329895 chr14 102605605 102605605 G A HSP90AA1 Nonsynonymous SNV S46L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.308 329896 chr5 115783298 115783298 C T rs781007196 SEMA6A Nonsynonymous SNV V702I 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 329897 chr14 102973520 102973520 G A ANKRD9 Nonsynonymous SNV A236V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.96 329898 chr14 103602158 103602158 G A rs749224433 TNFAIP2 Nonsynonymous SNV V657M 0 0.003 0 0 0 1 0 0 0 0 0 0 0.082 329899 chr5 130782179 130782179 T C rs767063387 RAPGEF6 Nonsynonymous SNV T1140A 0 0.003 0 0 0 1 0 0 0 0 0 0 25.6 329900 chr5 134343789 134343789 A C CATSPER3 Nonsynonymous SNV N212T 0 0.003 0 0 0 1 0 0 0 0 0 0 15.2 329901 chr19 36912358 36912358 C T rs563836056 LOC644189 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 329902 chr5 139060429 139060429 G A rs376404815 CXXC5 Synonymous SNV A107A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.99 329903 chr5 140048771 140048771 C T rs766583334 WDR55 Synonymous SNV I256I 0 0.003 0 0 0 1 0 0 0 0 0 0 8.753 329904 chr14 20897065 20897065 G A rs368179614 KLHL33 Synonymous SNV P515P 0 0.003 0.003 0 0 1 0 1 0 0 0 0 7.145 329905 chr5 140256612 140256612 G T rs376609696 PCDHA12 Nonsynonymous SNV A519S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 329906 chr19 55591633 55591633 G T rs371608469 EPS8L1 Nonsynonymous SNV G139V 0.001 0 0 0 1 0 0 0 0 0 0 0 26 329907 chr19 55673152 55673152 C A DNAAF3 Nonsynonymous SNV W242C 0.001 0 0 0 1 0 0 0 0 0 0 0 27.9 329908 chr19 55776739 55776739 C T rs142524191 HSPBP1 Synonymous SNV P350P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.06 329909 chr17 39890584 39890584 G T rs782274066 HAP1 Nonsynonymous SNV D101E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 329910 chr14 24687629 24687629 G A NEDD8, NEDD8-MDP1 Synonymous SNV T9T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.15 329911 chr14 24839562 24839562 G T NFATC4 Nonsynonymous SNV A320S 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 329912 chr19 44117678 44117678 A G SRRM5 Nonsynonymous SNV K469E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.369 329913 chr19 56423409 56423409 A G rs138670934 NLRP13 Synonymous SNV L592L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.007 329914 chr5 159822207 159822207 T C rs770252731 ZBED8 Synonymous SNV Q97Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.029 329915 chr19 44503164 44503164 T C rs561863039 LOC101928063 0 0 0.003 0 0 0 0 1 0 0 0 0 1.416 329916 chr19 52942416 52942416 A C rs192999840 ZNF534 Nonsynonymous SNV H540P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.63 329917 chr19 57648249 57648249 C T rs201525942 ZIM3 Nonsynonymous SNV G78D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.65 329918 chr5 169127100 169127100 C T rs141406325 DOCK2 Synonymous SNV T405T 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 15.63 329919 chr5 176008551 176008551 G A rs777044658 CDHR2 Nonsynonymous SNV G676S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.922 329920 chr19 58596505 58596505 C T rs139950426 ZSCAN18 Synonymous SNV P224P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.14 329921 chr19 58880316 58880316 G A ZNF837 Synonymous SNV S128S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.021 329922 chr19 48244275 48244281 GGTGGGC - EHD2 V407Cfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 329923 chr6 5004194 5004194 G A rs746211584 RPP40, LYRM4-AS1 Synonymous SNV L15L 0 0.003 0 0 0 1 0 0 0 0 0 0 9.922 329924 chr14 70634465 70634465 G A SLC8A3 Synonymous SNV S225S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.344 329925 chr6 38029382 38029382 A G ZFAND3 Synonymous SNV K42K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.057 329926 chr14 74535594 74535594 G A ALDH6A1 Nonsynonymous SNV S261L 0 0.003 0 0 0 1 0 0 0 0 0 0 33 329927 chr6 25726611 25726611 G A H2AC1 Nonsynonymous SNV P49S 0 0.003 0 0 0 1 0 0 0 0 0 0 23 329928 chr14 77844925 77844925 C A rs758094989 SAMD15 Nonsynonymous SNV N388K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 329929 chr14 92403446 92403446 A G rs145108467 FBLN5 Nonsynonymous SNV V75A 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23 329930 chr19 52941995 52941995 C T rs761380531 ZNF534 Nonsynonymous SNV H400Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23 329931 chr19 9868537 9868540 AATT - rs779744151 ZNF846 N276Pfs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 329932 chr14 94423236 94423236 A G rs373447573 ASB2 Nonsynonymous SNV S15P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.78 329933 chr1 109801281 109801281 A G CELSR2 Nonsynonymous SNV I1180V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.94 329934 chr19 55224839 55224839 C T rs17273309 LILRP2 0 0 0.003 0 0 0 0 1 0 0 0 0 3.125 329935 chr6 74155444 74155444 - ACATCAA CGAS Stop gain M229* 0.001 0 0 0 1 0 0 0 0 0 0 0 329936 chr17 7476080 7476080 A G SENP3-EIF4A1 0.002 0 0 0 2 0 0 0 0 0 0 0 12.6 329937 chr1 112269692 112269692 G A rs779403793 INKA2 Synonymous SNV G264G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.558 329938 chr1 113125075 113125075 C T rs756707779 ST7L Synonymous SNV L109L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 329939 chr19 56599462 56599462 T A ZNF787 Nonsynonymous SNV E360V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.05 329940 chr19 56599463 56599463 C T ZNF787 Nonsynonymous SNV E360K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.08 329941 chr6 91246057 91246057 T C MAP3K7 Nonsynonymous SNV Q425R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.71 329942 chr1 11907273 11907273 C T rs745922613 NPPA Nonsynonymous SNV R116K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 329943 chr1 12343112 12343112 G A rs767875733 VPS13D Synonymous SNV E1651E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.891 329944 chr6 57048671 57048671 C A BAG2 Nonsynonymous SNV Q107K 0 0.003 0 0 0 1 0 0 0 0 0 0 19.51 329945 chr6 72003032 72003032 A G OGFRL1 Nonsynonymous SNV R91G 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 329946 chr1 1471102 1471102 C T rs371009717 TMEM240 Synonymous SNV T80T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 7.685 329947 chr19 7445856 7445856 T C ARHGEF18 Nonsynonymous SNV L233P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 329948 chr17 9792868 9792868 T G GLP2R Nonsynonymous SNV L503R 0.002 0 0 0 2 0 0 0 0 0 0 0 8.447 329949 chr19 7926866 7926866 C T rs767315602 EVI5L Nonsynonymous SNV L525F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 329950 chr6 126072990 126072990 A T rs76735267 HEY2 Nonsynonymous SNV T43S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.039 329951 chr19 8150406 8150406 G A rs192123683 FBN3 Nonsynonymous SNV R2310W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 329952 chr15 51633907 51633907 G A GLDN Nonsynonymous SNV R9H 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 329953 chr6 138192419 138192419 G C TNFAIP3 Nonsynonymous SNV V19L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 329954 chr1 154956253 154956253 G C FLAD1 Nonsynonymous SNV R28T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 329955 chr18 28681888 28681888 C T DSC2 Nonsynonymous SNV R16Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 14.93 329956 chr15 59956283 59956283 C T rs533202294 BNIP2 Synonymous SNV P248P 0 0.003 0 0 0 1 0 0 0 0 0 0 14.1 329957 chr1 109815522 109815522 C T rs200571443 CELSR2 Synonymous SNV T2737T 0 0 0.003 0 0 0 0 1 0 0 0 0 13 329958 chr1 159799947 159799947 A G SLAMF8 Nonsynonymous SNV Q111R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.055 329959 chr1 161089083 161089083 G A rs200179933 NIT1 Synonymous SNV E71E 0.001 0 0 0 1 0 0 0 0 0 0 0 4.775 329960 chr6 150537984 150537984 C T rs140737196 PPP1R14C Nonsynonymous SNV P139S 0 0.003 0 0 0 1 0 0 0 0 0 0 26.7 329961 chr1 16199620 16199620 G A rs200631878 SPEN Synonymous SNV R131R 0.001 0 0 0 1 0 0 0 0 0 0 0 1.891 329962 chr6 152539515 152539515 G A rs35686213 SYNE1 Synonymous SNV T7285T 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 14.58 329963 chr1 11586720 11586720 C T DISP3 Nonsynonymous SNV P876S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 329964 chr6 154412124 154412124 C T rs775366173 OPRM1 Synonymous SNV T127T 0 0.003 0 0 0 1 0 0 0 0 0 0 8.196 329965 chr1 118534042 118534042 A T rs967672145 SPAG17 Nonsynonymous SNV V1824D 0 0 0.003 0 0 0 0 1 0 0 0 0 31 329966 chr6 160506118 160506118 G A IGF2R Nonsynonymous SNV V2054I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.86 329967 chr1 145382385 145382385 G A rs76457965 LINC01719 0 0 0.003 0 0 0 0 1 0 0 0 0 5.884 329968 chr1 17550187 17550187 C T rs143089550 PADI1 Synonymous SNV V115V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.255 329969 chr7 4002293 4002293 C A SDK1 Synonymous SNV V413V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.65 329970 chr7 4008919 4008919 G A rs144938504 SDK1 Nonsynonymous SNV R526Q 0 0.003 0 0 0 1 0 0 0 0 0 0 15.08 329971 chr16 11785220 11785220 G A rs17674449 TXNDC11 Nonsynonymous SNV A157V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.7 329972 chr1 165398140 165398140 G A RXRG Nonsynonymous SNV P38L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 329973 chr7 43484956 43484956 G A HECW1 Nonsynonymous SNV E729K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 329974 chr16 14341286 14341286 T A rs545337037 MRTFB Synonymous SNV A712A 0 0.003 0 0 0 1 0 0 0 0 0 0 18.88 329975 chr1 20141134 20141134 C T rs763892906 RNF186 Nonsynonymous SNV R154H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 329976 chr1 203029356 203029356 G A rs202090038 PPFIA4 Synonymous SNV G865G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.636 329977 chr1 20304900 20304900 C T rs146836568 PLA2G2A Nonsynonymous SNV R53K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 329978 chr1 160709140 160709140 C A SLAMF7 Nonsynonymous SNV L17I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 329979 chr1 203743083 203743083 C T rs375084141 LAX1 Synonymous SNV N141N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.969 329980 chr7 72848886 72848886 C G FZD9 Synonymous SNV P183P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.984 329981 chr7 37947208 37947208 G A rs774036745 SFRP4 Nonsynonymous SNV A305V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 329982 chr19 18979986 18980010 GGCCCGGGGTCCGCGCCCGCGCCCT - GDF1 Q172Rfs*59 0.001 0 0 0 1 0 0 0 0 0 0 0 329983 chr1 170135875 170135875 G T rs763817109 METTL11B Nonsynonymous SNV W188L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 329984 chr7 82595736 82595736 C T rs115735993 PCLO Nonsynonymous SNV R1123H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.44 329985 chr7 84685120 84685120 A G rs34801275 SEMA3D Synonymous SNV D258D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 6.531 329986 chr19 20229549 20229549 C G ZNF90 Nonsynonymous SNV P396A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.6 329987 chr1 215802261 215802261 C G USH2A Nonsynonymous SNV Q5138H 0.001 0 0 0 1 0 0 0 0 0 0 0 14.36 329988 chr1 178646884 178646884 C T rs56088671 MIR4424 0 0 0.003 0 0 0 0 1 0 0 0 0 5.515 329989 chr19 313509 313509 C T rs764545665 MIER2 Nonsynonymous SNV V228M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 329990 chr7 65552777 65552777 G A rs757704350 ASL Synonymous SNV V213V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.35 329991 chr1 179989558 179989558 T C rs368132615 CEP350 Synonymous SNV D883D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 329992 chr1 222805603 222805603 T C MIA3 Nonsynonymous SNV V1089A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.026 329993 chr1 228447466 228447466 T C rs754239652 OBSCN Nonsynonymous SNV L1709P 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 329994 chr1 229771127 229771127 A C URB2 Nonsynonymous SNV E256A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.77 329995 chr16 57394457 57394457 C T rs147844594 CCL22 Nonsynonymous SNV P61L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.78 329996 chr1 233515393 233515393 G T rs967153290 MAP3K21 Nonsynonymous SNV A881S 0.001 0 0 0 1 0 0 0 0 0 0 0 2.606 329997 chr1 23519830 23519830 G A rs911185312 HTR1D Stop gain R295X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 329998 chr1 202989961 202989961 C T rs1024842052 TMEM183A Nonsynonymous SNV P247L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 329999 chr1 205801816 205801816 C T rs199717760 PM20D1 Nonsynonymous SNV V399I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 330000 chr1 207223030 207223030 T G rs771445603 YOD1 Synonymous SNV R128R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.082 330001 chr1 20975094 20975094 G T rs556540177 PINK1 Nonsynonymous SNV R407L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 330002 chr1 215256766 215256766 G C rs757093767 KCNK2 Nonsynonymous SNV R13T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.48 330003 chr7 134879812 134879812 G A rs371439857 WDR91 Synonymous SNV V423V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.96 330004 chr16 815536 815536 G A rs774690027 MSLN Synonymous SNV S238S 0 0.003 0 0 0 1 0 0 0 0 0 0 3.264 330005 chr1 223938631 223938631 C T rs752679899 CAPN2 Stop gain R207X 0 0 0.003 0 0 0 0 1 0 0 0 0 40 330006 chr1 226047046 226047046 C T TMEM63A Synonymous SNV K409K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 330007 chr1 228113023 228113023 C A rs781001833 WNT9A Nonsynonymous SNV R98L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 330008 chr1 33487304 33487304 C A AK2 Nonsynonymous SNV V32L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 330009 chr1 229772713 229772713 T C URB2 Nonsynonymous SNV Y785H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 330010 chr16 89970558 89970558 C T rs778338662 TCF25 Nonsynonymous SNV R472W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 330011 chr1 39893177 39893177 C T rs150229499 MACF1 Nonsynonymous SNV T3394I 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 330012 chr7 142965184 142965184 G A rs756070089 GSTK1 Nonsynonymous SNV A236T 0 0.003 0 0 0 1 0 0 0 0 0 0 34 330013 chr1 23847491 23847491 C G rs377111483 E2F2 Synonymous SNV L217L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 330014 chr1 243480180 243480180 T C rs777038486 SDCCAG8 Synonymous SNV N253N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.714 330015 chr1 247654477 247654477 C T OR2W5 Synonymous SNV G16G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.174 330016 chr7 155532708 155532708 G A rs763763629 RBM33 Synonymous SNV Q679Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 7.244 330017 chr1 52280436 52280436 G C NRDC Nonsynonymous SNV Q497E 0.001 0 0 0 1 0 0 0 0 0 0 0 18.37 330018 chr8 1842581 1842581 A T rs759111033 ARHGEF10 Nonsynonymous SNV E390V 0 0.003 0 0 0 1 0 0 0 0 0 0 25.8 330019 chr8 1851608 1851608 C A ARHGEF10 Stop gain Y566X 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 37 330020 chr1 34080207 34080207 T C rs142286904 CSMD2 Synonymous SNV G2010G 0.001 0 0 0 1 0 0 0 0 0 0 0 5.409 330021 chr1 6267532 6267532 G A rs568593631 RNF207 Synonymous SNV A95A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.9 330022 chr8 16021727 16021727 C T MSR1 Nonsynonymous SNV V240I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 330023 chr1 28280910 28280910 G A rs368712973 SMPDL3B Nonsynonymous SNV R188Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 330024 chr8 17097293 17097293 C G rs185935888 CNOT7 Nonsynonymous SNV V107L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.1 330025 chr1 28906155 28906155 C G SNHG12 0 0 0.003 0 0 0 0 1 0 0 0 0 6.141 330026 chr1 3416367 3416367 G A rs781539343 MEGF6 Synonymous SNV C943C 0 0 0.003 0 0 0 0 1 0 0 0 0 6.644 330027 chr1 40702617 40702617 A G RLF Nonsynonymous SNV D748G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.27 330028 chr17 3717673 3717673 C G rs747176507 NCBP3 Nonsynonymous SNV G524R 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 330029 chr1 41157321 41157321 C A NFYC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.949 330030 chr8 57025636 57025636 G C rs146964611 MOS Synonymous SNV A302A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.892 330031 chr8 69009309 69009309 G A PREX2 Nonsynonymous SNV S809N 0 0.003 0 0 0 1 0 0 0 0 0 0 31 330032 chr1 94998750 94998750 G A rs5901 F3 Nonsynonymous SNV R163W 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 19.31 330033 chr1 95712401 95712401 A C rs781109438 RWDD3 Nonsynonymous SNV E260A 0.001 0 0 0 1 0 0 0 0 0 0 0 25 330034 chr8 88885639 88885639 G C rs757726824 DCAF4L2 Synonymous SNV S187S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.376 330035 chr8 99101429 99101429 T A rs142445637 ERICH5 Nonsynonymous SNV L62I 0 0.003 0 0 0 1 0 0 0 0 0 0 15.02 330036 chr1 59137608 59137608 G C MYSM1 Nonsynonymous SNV A532G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 330037 chr1 5964854 5964854 C T rs191602135 NPHP4 Nonsynonymous SNV D144N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.5 330038 chr1 99762356 99762356 A G PLPPR4 Synonymous SNV L157L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.434 330039 chr8 113259316 113259316 G A rs755076078 CSMD3 Synonymous SNV L3185L 0 0.003 0 0 0 1 0 0 0 0 0 0 7.695 330040 chr1 6292127 6292127 G A rs142528979 ICMT Synonymous SNV F169F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 330041 chr8 120770369 120770369 A G TAF2 Synonymous SNV Y904Y 0 0.003 0 0 0 1 0 0 0 0 0 0 5.588 330042 chr1 64014705 64014705 C G rs217486 DLEU2L 0 0 0.007 0 0 0 0 2 0 0 1 0 3.251 330043 chr8 126094692 126094692 T C rs772639041 WASHC5 Nonsynonymous SNV N117S 0 0.003 0 0 0 1 0 0 0 0 0 0 11.69 330044 chr20 25204780 25204780 C T rs756263635 ENTPD6 Synonymous SNV I158I 0.001 0 0 0 1 0 0 0 0 0 0 0 14.65 330045 chr8 144947067 144947067 T C EPPK1 Nonsynonymous SNV T119A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 330046 chr1 8029466 8029466 - A rs781094807 PARK7 0 0 0.003 0 0 0 0 1 0 0 0 0 330047 chr1 86048479 86048479 C T rs140020167 CCN1 Synonymous SNV Y300Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.852 330048 chr1 911605 911605 G A PERM1 Nonsynonymous SNV R752C 0 0 0.007 0 0 0 0 2 0 0 1 0 33 330049 chr1 94312419 94312419 C T rs754536262 MIR760 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 330050 chr8 144946763 144946763 C T rs200639583 EPPK1 Nonsynonymous SNV R220H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.107 330051 chr20 40042042 40042042 T C CHD6 Synonymous SNV K2351K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 330052 chr8 144994796 144994796 C T rs782159227 PLEC Nonsynonymous SNV G3051R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 330053 chr20 44505965 44505965 G A rs757680101 ZSWIM3 Synonymous SNV A256A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.891 330054 chr20 25059554 25059554 C T rs748970283 VSX1 Nonsynonymous SNV E180K 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330055 chr20 17489611 17489611 C T rs763291516 BFSP1 Nonsynonymous SNV A95T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.54 330056 chr20 25388476 25388476 T C GINS1 Nonsynonymous SNV M7T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.761 330057 chr8 146278720 146278720 C T rs137890319 C8orf33 Synonymous SNV S147S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.549 330058 chr20 30607209 30607209 C T rs749137646 CCM2L Synonymous SNV N310N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 330059 chr20 31041445 31041445 G A rs376049419 NOL4L Synonymous SNV D169D 0.001 0 0 0 1 0 0 0 0 0 0 0 7.486 330060 chr9 5922991 5922991 C G rs566840787 KIAA2026 Nonsynonymous SNV G1002A 0 0.003 0 0 0 1 0 0 0 0 0 0 23 330061 chr20 2187606 2187606 G C rs34369432 LOC388780 0 0 0.003 0 0 0 0 1 0 0 0 0 4.61 330062 chr9 26997993 26997993 A G rs745917814 LRRC19 Nonsynonymous SNV Y110H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 330063 chr20 33356323 33356323 A G NCOA6 Nonsynonymous SNV M153T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.876 330064 chr20 33572932 33572933 TG - MYH7B, MYH7B Y311Ifs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 330065 chr20 35177602 35177602 G A rs571910074 MYL9 Nonsynonymous SNV V103M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 330066 chr20 3675107 3675107 C T rs767258272 SIGLEC1 Nonsynonymous SNV R1006H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.01 330067 chr21 22710726 22710726 C G NCAM2 Nonsynonymous SNV Q164E 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 330068 chr9 96437969 96437969 C G rs566341958 PHF2 Synonymous SNV V910V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 330069 chr20 47838088 47838088 G A rs149888744 DDX27 Nonsynonymous SNV D96N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 330070 chr21 31588122 31588122 A G rs770295035 CLDN8 Nonsynonymous SNV V41A 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 330071 chr17 79171940 79171940 C T rs142518740 CEP131 Nonsynonymous SNV R482K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.066 330072 chr9 101788186 101788186 G A COL15A1 Nonsynonymous SNV G661S 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 330073 chr20 57036229 57036229 C T APCDD1L Nonsynonymous SNV E375K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.357 330074 chr21 37617992 37617992 G A DOP1B Synonymous SNV R1238R 0.001 0 0 0 1 0 0 0 0 0 0 0 7.535 330075 chr1 154321361 154321361 C G rs781160220 ATP8B2 Nonsynonymous SNV R1133G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.8 330076 chr21 43519084 43519084 G A rs779638280 UMODL1 Nonsynonymous SNV S327N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 330077 chr20 61870723 61870723 A G rs535809908 BIRC7 Synonymous SNV P221P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 330078 chr9 124535612 124535612 G A rs780370383 DAB2IP Synonymous SNV T811T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.38 330079 chr9 125424423 125424423 G A OR1L1 Synonymous SNV L143L 0 0.003 0 0 0 1 0 0 0 0 0 0 1.249 330080 chr21 30698752 30698752 G T BACH1 Nonsynonymous SNV A203S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 330081 chr21 31859523 31859523 T A rs764193035 KRTAP19-2 Nonsynonymous SNV T49S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.521 330082 chr18 29797043 29797043 G A rs191558431 MEP1B Nonsynonymous SNV G617S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 330083 chr22 19711641 19711641 G A GP1BB Nonsynonymous SNV R92H 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 330084 chr9 131609102 131609102 G A rs760524464 KYAT1 Nonsynonymous SNV R45W 0 0.003 0 0 0 1 0 0 0 0 0 0 1.06 330085 chr9 138235302 138235302 C T rs963803846 C9orf62 Nonsynonymous SNV R20C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.69 330086 chr9 132397557 132397557 C A NTMT1 Stop gain S134X 0 0.003 0 0 0 1 0 0 0 0 0 0 17.22 330087 chr9 132402868 132402868 G C rs143666429 ASB6 Nonsynonymous SNV R83G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.05 330088 chr9 134473598 134473598 C T rs201643590 RAPGEF1 Synonymous SNV T698T 0 0.003 0 0 0 1 0 0 0 0 0 0 20.2 330089 chr9 135538068 135538068 C G rs199530487 DDX31 Synonymous SNV T135T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 330090 chr9 139981487 139981487 C G rs536416852 MAN1B1 Synonymous SNV L12L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 330091 chr1 169541532 169541532 A G F5 Synonymous SNV V100V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.008 330092 chr9 140147225 140147225 C A STPG3 Nonsynonymous SNV L202M 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 330093 chr10 428609 428609 C A DIP2C Nonsynonymous SNV A657S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 330094 chr21 47406542 47406542 C T rs767176038 COL6A1 Synonymous SNV N177N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.83 330095 chr18 6997871 6997871 T C rs767328869 LAMA1 Nonsynonymous SNV E1559G 0 0.003 0 0 0 1 0 0 0 0 0 0 20.9 330096 chr1 175365732 175365732 G A rs138698493 TNR Synonymous SNV Y63Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.427 330097 chr10 8115820 8115820 G C GATA3 Nonsynonymous SNV S390T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 330098 chr18 77664150 77664150 G A rs142557456 SLC66A2 Nonsynonymous SNV T124M 0 0.003 0.003 0 0 1 0 1 0 0 0 0 4.59 330099 chr22 21331006 21331006 C T rs373473269 AIFM3 Nonsynonymous SNV T366M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 330100 chr22 21363576 21363576 A G THAP7-AS1, TUBA3FP 0 0 0.003 0 0 0 0 1 0 0 0 0 1.866 330101 chr22 23438248 23438248 C T rs145202716 GNAZ Synonymous SNV P122P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.723 330102 chr22 24584260 24584260 C T rs144947720 SUSD2 Synonymous SNV L803L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 330103 chr19 10431837 10431837 C G RAVER1 Nonsynonymous SNV G454R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 330104 chr22 31335959 31335959 G T MORC2 Nonsynonymous SNV T325K 0.001 0 0 0 1 0 0 0 0 0 0 0 24 330105 chr19 1114251 1114251 C T SBNO2 Nonsynonymous SNV G629R 0 0.003 0 0 0 1 0 0 0 0 0 0 14.77 330106 chr10 22021873 22021873 G A rs753501162 MLLT10 Nonsynonymous SNV R755Q 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 330107 chr22 50318065 50318065 - T CRELD2 Frameshift insertion I250Yfs*44 0.001 0 0 0 1 0 0 0 0 0 0 0 330108 chr22 35719086 35719086 C T rs780518383 TOM1 Synonymous SNV F61F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.13 330109 chr22 37334104 37334104 C - rs748885990 CSF2RB P753Lfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 330110 chr22 50728297 50728297 C T rs764919210 PLXNB2 Synonymous SNV P239P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.72 330111 chr22 50962506 50962506 C T rs376068063 SCO2 Nonsynonymous SNV R112Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.399 330112 chr22 38120698 38120698 A G rs199909815 TRIOBP Nonsynonymous SNV N712S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.057 330113 chr2 100020946 100020946 G A rs140247498 REV1 Synonymous SNV D1001D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.926 330114 chr2 100199346 100199346 T C rs758896779 AFF3 Nonsynonymous SNV N928D 0.001 0 0 0 1 0 0 0 0 0 0 0 9.844 330115 chr22 39414036 39414036 T A rs775452523 APOBEC3C Nonsynonymous SNV I147N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 330116 chr1 204125411 204125411 G A rs778959609 REN Synonymous SNV D285D 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.161 330117 chr10 48388675 48388675 T C rs782273341 RBP3 Nonsynonymous SNV K735E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.79 330118 chr1 207195392 207195392 G T rs369059383 C1orf116 Nonsynonymous SNV P327T 0.002 0 0 0 2 0 0 0 0 0 0 0 4.383 330119 chr2 112776990 112776990 C G rs768035521 MERTK Nonsynonymous SNV H694D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.15 330120 chr10 52569784 52569784 T C rs755700565 A1CF Synonymous SNV P493P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 330121 chr2 11332613 11332613 T C ROCK2 Nonsynonymous SNV M1219V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.407 330122 chr10 69647253 69647253 A G rs144124002 SIRT1 Nonsynonymous SNV H170R 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 13.85 330123 chr1 215749246 215749246 A C rs139697667 KCTD3 Synonymous SNV I62I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.14 330124 chr10 70333521 70333521 A G TET1 Nonsynonymous SNV T476A 0 0.003 0 0 0 1 0 0 0 0 0 0 1.082 330125 chr1 222717314 222717314 C A HHIPL2 Nonsynonymous SNV C180F 0.002 0 0 0 2 0 0 0 0 0 0 0 31 330126 chr2 103095665 103095665 A G SLC9A4 Synonymous SNV P208P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.248 330127 chr10 73082622 73082622 C T rs773183035 SLC29A3 Synonymous SNV D37D 0 0.003 0 0 0 1 0 0 0 0 0 0 7.8 330128 chr1 223934815 223934815 A G CAPN2 Nonsynonymous SNV K148R 0.002 0 0 0 2 0 0 0 0 0 0 0 2.862 330129 chr2 138771630 138771630 A C rs201105511 HNMT Nonsynonymous SNV E270A 0.001 0 0 0 1 0 0 0 0 0 0 0 17.83 330130 chr2 11053860 11053860 C T rs139764455 KCNF1 Synonymous SNV S436S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.297 330131 chr10 81838579 81838579 C G rs375260687 TMEM254-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 5.217 330132 chr10 82300685 82300685 T C SH2D4B Synonymous SNV D11D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.472 330133 chr2 112686864 112686864 A C MERTK Nonsynonymous SNV N77H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 330134 chr2 124771343 124771343 A G rs111871114 LOC107985820 0 0 0.003 0 0 0 0 1 0 0 0 0 0.765 330135 chr2 158617525 158617525 G A rs56189710 ACVR1 Synonymous SNV G377G 0.003 0 0.003 0 3 0 0 1 0 0 0 0 Benign 7.539 330136 chr10 93751919 93751919 G A rs562974443 BTAF1 Synonymous SNV K966K 0 0.003 0 0 0 1 0 0 0 0 0 0 12.4 330137 chr2 167760138 167760138 A C rs767298653 XIRP2 Nonsynonymous SNV E49A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.18 330138 chr2 141298604 141298604 T C LRP1B Nonsynonymous SNV N2484S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.704 330139 chr10 111967821 111967821 G A rs780987305 MXI1 Synonymous SNV Q85Q 0.001 0 0 0 1 0 0 0 0 0 0 0 4.595 330140 chr2 152376170 152376174 ACCTC - NEB E5829del 0 0 0.003 0 0 0 0 1 0 0 0 0 330141 chr2 152500622 152500622 G A rs947230244 NEB Nonsynonymous SNV R2556C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 330142 chr2 176958118 176958118 A G rs200067774 HOXD13 Nonsynonymous SNV Y167C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.1 330143 chr2 15758387 15758387 G C rs146515867 DDX1 Nonsynonymous SNV R400T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 330144 chr2 179528603 179528603 G A rs368607833 TTN Nonsynonymous SNV R12131C 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 16.03 330145 chr10 101668744 101668744 A G DNMBP Nonsynonymous SNV I439T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 330146 chr2 182774685 182774685 G A rs143398479 ITPRID2 Synonymous SNV T338T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.475 330147 chr2 203748977 203748977 C T rs140491316 WDR12 Nonsynonymous SNV R173H 0.001 0 0 0 1 0 0 0 0 0 0 0 29 330148 chr19 42353019 42353019 G A rs374622487 DMRTC2 Nonsynonymous SNV A202T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.001 330149 chr1 28598932 28598932 - T SESN2 Frameshift insertion L165Ffs*55 0.001 0 0 0 1 0 0 0 0 0 0 0 330150 chr1 3395176 3395176 C T rs150491102 ARHGEF16 Nonsynonymous SNV A605V 0.002 0 0 0 2 0 0 0 0 0 0 0 24 330151 chr2 215593545 215593545 T G rs876658253 BARD1 Nonsynonymous SNV Q217P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.5 330152 chr2 217148375 217148375 G A rs140625265 MARCHF4 Synonymous SNV S198S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 330153 chr2 220422313 220422313 T G OBSL1 Nonsynonymous SNV E1273A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 330154 chr2 225727405 225727405 C T rs748898142 DOCK10 Nonsynonymous SNV R548H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 330155 chr11 1055230 1055230 C T LINC02688 0 0.003 0 0 0 1 0 0 0 0 0 0 5.492 330156 chr11 1078367 1078367 C T rs371906704 MUC2 Synonymous SNV C218C 0 0.003 0 0 0 1 0 0 0 0 0 0 6.696 330157 chr11 1090967 1090967 A C MUC2 Nonsynonymous SNV T1288P 0 0.003 0 0 0 1 0 0 0 0 0 0 2.784 330158 chr2 237172813 237172813 G A rs149073271 ASB18 Nonsynonymous SNV S59L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 330159 chr2 241448854 241448854 G A rs142090859 ANKMY1 Nonsynonymous SNV R633W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 330160 chr1 74936025 74936025 G A rs900056623 LRRC53 Nonsynonymous SNV S1094F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 330161 chr2 242755759 242755759 G A NEU4 Synonymous SNV S39S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.924 330162 chr11 5566206 5566206 G T OR52H1 Nonsynonymous SNV P183H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.41 330163 chr2 242680482 242680482 G A rs374304979 D2HGDH Synonymous SNV S109S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.962 330164 chr11 5862690 5862690 A C OR52E6 Nonsynonymous SNV I146M 0 0.003 0 0 0 1 0 0 0 0 0 0 16.11 330165 chr11 5878906 5878906 A T OR52E8 Nonsynonymous SNV N9K 0 0.003 0 0 0 1 0 0 0 0 0 0 21.4 330166 chr2 28771773 28771773 G A rs369559866 PLB1 Nonsynonymous SNV G339E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 330167 chr2 28800988 28800988 A G rs755296561 PLB1 Nonsynonymous SNV Q494R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 330168 chr2 27456275 27456275 G T rs143119049 CAD Synonymous SNV R966R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 10.75 330169 chr11 6592981 6592981 G A DNHD1 Nonsynonymous SNV S4676N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.304 330170 chr2 28863842 28863842 G A rs372633029 PLB1 Nonsynonymous SNV R1372Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 330171 chr2 29294311 29294311 C A PCARE Synonymous SNV G939G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.324 330172 chr2 36825166 36825166 C T FEZ2 Synonymous SNV A40A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 330173 chr2 27666007 27666009 CTT - rs771295927 KRTCAP3 L115del 0.001 0 0 0 1 0 0 0 0 0 0 0 330174 chr2 27728609 27728609 C T rs138410297 GCKR Nonsynonymous SNV R259W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 330175 chr2 38800508 38800508 A T rs777950966 HNRNPLL Synonymous SNV P312P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.717 330176 chr2 61713095 61713095 G C XPO1 Synonymous SNV V772V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.42 330177 chr2 45235887 45235887 G A SIX2 Synonymous SNV I121I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 330178 chr2 47637471 47637471 C G rs1060502002 MSH2 Nonsynonymous SNV P202R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.4 330179 chr2 70528091 70528091 C T rs748392606 FAM136A Nonsynonymous SNV A144T 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 330180 chr2 6114610 6114610 C T rs12053485 SILC1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.166 330181 chr2 71216087 71216087 A T TEX261 Nonsynonymous SNV S145T 0.001 0 0 0 1 0 0 0 0 0 0 0 24 330182 chr2 66670114 66670114 C T rs775405225 MEIS1 Synonymous SNV D188D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 330183 chr2 71591182 71591182 G A rs773435714 ZNF638 Nonsynonymous SNV R506H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.23 330184 chr2 6980446 6980446 G T rs76923785 NRIR 0 0 0.003 0 0 0 0 1 0 0 0 0 3.689 330185 chr19 56734028 56734028 T G rs766115556 ZSCAN5A Nonsynonymous SNV D107A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 330186 chr11 32956908 32956908 T G rs541783269 QSER1 Nonsynonymous SNV S1368R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.623 330187 chr11 33719990 33719990 C T rs141161902 C11orf91 Synonymous SNV S189S 0 0.003 0 0 0 1 0 0 0 0 0 0 10.94 330188 chr2 73315396 73315398 CTT - rs771070499 RAB11FIP5 K450del 0 0 0.003 0 0 0 0 1 0 0 0 0 330189 chr2 73682305 73682305 C A ALMS1 Nonsynonymous SNV F2518L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 330190 chr2 74682252 74682252 G A INO80B Synonymous SNV K3K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.47 330191 chr2 74682254 74682254 T A INO80B Nonsynonymous SNV L4Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 330192 chr2 88402627 88402627 G A SMYD1 Synonymous SNV L300L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.49 330193 chr2 80801343 80801343 C T rs371544995 CTNNA2 Synonymous SNV N278N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 330194 chr2 9621485 9621485 G A IAH1 Synonymous SNV L5L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 330195 chr3 10183773 10183773 C T rs193922608 VHL Nonsynonymous SNV P81L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 28.5 330196 chr3 107937432 107937432 A G rs34760675 IFT57 Synonymous SNV L148L 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.68 330197 chr3 111854071 111854074 TGTT - rs59632909 TBILA 0 0 0.007 0 0 0 0 2 0 0 1 0 330198 chr3 113331030 113331030 G A rs148100303 SIDT1 Nonsynonymous SNV R590H 0 0 0.003 0 0 0 0 1 0 0 0 0 27 330199 chr3 113379798 113379798 C T rs368870346 USF3 Nonsynonymous SNV S244N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.412 330200 chr20 49247319 49247319 G A rs771138078 RIPOR3 Synonymous SNV S26S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 330201 chr3 123166774 123166774 C T ADCY5 Nonsynonymous SNV A207T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.56 330202 chr3 127540645 127540645 G A rs201175620 MGLL Nonsynonymous SNV S6F 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 330203 chr3 128291829 128291829 G A rs116311182 LINC01565 0 0 0.003 0 0 0 0 1 0 0 0 0 7.131 330204 chr3 130098695 130098695 G A rs201166929 COL6A5 Nonsynonymous SNV V368M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.173 330205 chr3 132361606 132361606 A G rs140190064 ACAD11 Nonsynonymous SNV I97T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 330206 chr11 57261614 57261614 C T SLC43A1 Synonymous SNV L241L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.4 330207 chr11 57513440 57513440 T G BTBD18 Nonsynonymous SNV Q102P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.909 330208 chr3 133647663 133647663 G C rs754996607 C3orf36 0 0 0.003 0 0 0 0 1 0 0 0 0 1.528 330209 chr3 134977949 134977949 C T rs56186270 EPHB1 Nonsynonymous SNV T981M 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 330210 chr3 13670780 13670780 C G FBLN2 Nonsynonymous SNV R897G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 330211 chr11 58207015 58207015 T C rs144827284 OR5B12 Nonsynonymous SNV N204D 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 330212 chr3 135821011 135821011 G C PPP2R3A Nonsynonymous SNV K294N 0.001 0 0 0 1 0 0 0 0 0 0 0 29.6 330213 chr3 142266654 142266654 A G rs751848091 ATR Synonymous SNV V1026V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.162 330214 chr3 1415431 1415431 C A rs748448232 CNTN6 Nonsynonymous SNV Q540K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 330215 chr1 112533719 112533719 C T rs752235303 LINC01750 0 0.003 0 0 0 1 0 0 0 0 0 0 10.45 330216 chr1 113254975 113254975 G A rs768311528 PPM1J Synonymous SNV G278G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.67 330217 chr11 61111726 61111726 C A TKFC Synonymous SNV T407T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.57 330218 chr11 61310166 61310166 G A rs1298285 SYT7 Nonsynonymous SNV P7L 0 0.003 0 0 0 1 0 0 0 0 0 0 15.03 330219 chr11 61498851 61498851 G T DAGLA Synonymous SNV G304G 0 0.003 0 0 0 1 0 0 0 0 0 0 11.64 330220 chr11 61724452 61724452 G A rs62641693 BEST1 Synonymous SNV L100L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 8.594 330221 chr11 61724453 61724453 C A rs74653691 BEST1 Nonsynonymous SNV L101I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 29.8 330222 chr3 130098623 130098623 C G rs140721388 COL6A5 Nonsynonymous SNV L344V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 330223 chr11 61897468 61897468 G A rs34210125 INCENP Nonsynonymous SNV E157K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 0.01 330224 chr11 62285887 62285887 G A rs139078432 AHNAK Synonymous SNV V5334V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.251 330225 chr11 62286044 62286044 C A rs149883015 AHNAK Nonsynonymous SNV G5282V 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 330226 chr11 62290170 62290170 A C rs499333 AHNAK Nonsynonymous SNV L3907V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 330227 chr3 130435289 130435289 G A rs147331212 PIK3R4 Nonsynonymous SNV P761L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.87 330228 chr11 62543279 62543279 G A rs75592271 TAF6L Synonymous SNV R8R 0 0.003 0 0 0 1 0 0 0 0 0 0 10.82 330229 chr3 160395204 160395204 G T ARL14 Nonsynonymous SNV A24S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.19 330230 chr3 165548187 165548187 G A rs114706984 BCHE Nonsynonymous SNV A212V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 18.42 330231 chr11 64693353 64693353 G T PPP2R5B Nonsynonymous SNV Q49H 0 0.003 0 0 0 1 0 0 0 0 0 0 24 330232 chr11 64693354 64693354 T C PPP2R5B Nonsynonymous SNV F50L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 330233 chr11 64694209 64694209 G A rs140140368 PPP2R5B Synonymous SNV E75E 0 0.003 0 0 0 1 0 0 0 0 0 0 9.857 330234 chr11 65270187 65270187 G A rs373071980 MALAT1, TALAM1 0 0.003 0 0 0 1 0 0 0 0 0 0 12.19 330235 chr11 65403666 65403666 C T rs61732727 PCNX3 Synonymous SNV A1827A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.16 330236 chr11 66039638 66039638 A T RAB1B Nonsynonymous SNV Y33F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.58 330237 chr3 184059543 184059543 C G FAM131A Nonsynonymous SNV P3R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 330238 chr11 66456159 66456159 C T SPTBN2 Nonsynonymous SNV E2066K 0 0.003 0 0 0 1 0 0 0 0 0 0 34 330239 chr3 187896827 187896828 AG - rs10616335 FLJ42393 0 0 0.014 0 0 0 0 4 0 0 2 0 330240 chr11 72422154 72422154 G A rs756738142 ARAP1 Synonymous SNV A130A 0 0.003 0 0 0 1 0 0 0 0 0 0 12.12 330241 chr22 21988758 21988758 C T rs201137148 CCDC116 Nonsynonymous SNV R174W 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 330242 chr3 30819695 30819695 G C rs373498528 GADL1 Synonymous SNV P456P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 330243 chr11 83674029 83674029 G T rs748227806 DLG2 Synonymous SNV G257G 0 0.003 0 0 0 1 0 0 0 0 0 0 7.314 330244 chr3 33906857 33906857 G A rs58695599 PDCD6IP Synonymous SNV T794T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.828 330245 chr3 38163122 38163122 G A DLEC1 Nonsynonymous SNV V1627M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 330246 chr11 93803639 93803639 A G HEPHL1 Nonsynonymous SNV K388R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.9 330247 chr11 94732050 94732050 G T rs371637822 KDM4D Nonsynonymous SNV S505I 0 0.003 0 0 0 1 0 0 0 0 0 0 11.15 330248 chr3 40231342 40231342 C T rs199497827 MYRIP Synonymous SNV P164P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.33 330249 chr3 40457515 40457515 G A rs748273050 ENTPD3 Nonsynonymous SNV C261Y 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 330250 chr3 42576474 42576474 G C VIPR1 Nonsynonymous SNV A130P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 330251 chr11 102826042 102826042 C A rs151254531 MMP13 Nonsynonymous SNV V101L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.4 330252 chr11 110035769 110035769 C T ZC3H12C Synonymous SNV D653D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.949 330253 chr22 37603414 37603414 C G SSTR3 Synonymous SNV L143L 0.001 0 0 0 1 0 0 0 0 0 0 0 4.742 330254 chr22 37906252 37906252 C T rs143178552 CARD10 Synonymous SNV A292A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 330255 chr1 161018249 161018249 G A rs143729685 ARHGAP30 Synonymous SNV Y677Y 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 330256 chr3 48637960 48637960 G A rs750774521 UQCRC1 Nonsynonymous SNV R390W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 330257 chr3 49847592 49847592 G A rs764300731 UBA7 Nonsynonymous SNV T553I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.62 330258 chr22 39711523 39711523 A G rs140921052 RPL3 Nonsynonymous SNV L180P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.9 330259 chr3 66432006 66432006 G T rs139455882 LRIG1 Nonsynonymous SNV S889R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.659 330260 chr3 71027096 71027096 T C rs752480845 FOXP1 Nonsynonymous SNV T311A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 330261 chr3 9990914 9990914 C T rs754226356 PRRT3 Nonsynonymous SNV V296M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.724 330262 chr3 88040853 88040853 C A HTR1F Synonymous SNV V318V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.683 330263 chr4 114251465 114251465 G T rs779092487 ANK2 Synonymous SNV G197G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.33 330264 chr4 126411535 126411535 G C rs200205392 FAT4 Nonsynonymous SNV V4521L 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 330265 chr1 206241553 206241553 A G rs149451412 RHEX Nonsynonymous SNV M79T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 330266 chr2 137928488 137928488 C T THSD7B Nonsynonymous SNV A568V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 330267 chr4 15964423 15964423 C T rs370553606 FGFBP2 Synonymous SNV P110P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 330268 chr4 151177291 151177291 T C rs150185095 DCLK2 Synonymous SNV P731P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 330269 chr4 154214268 154214268 G T TRIM2 Synonymous SNV L169L 0.001 0 0 0 1 0 0 0 0 0 0 0 3.689 330270 chr4 17640954 17640954 C T FAM184B Nonsynonymous SNV R862Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 330271 chr12 26640010 26640010 G A ITPR2 Stop gain R1849X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 330272 chr12 31446838 31446838 G C SINHCAF Nonsynonymous SNV L86V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.93 330273 chr1 22201396 22201396 C T rs754452842 HSPG2 Synonymous SNV G1135G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.06 330274 chr4 27010097 27010097 C T rs145285365 STIM2 Synonymous SNV H399H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 330275 chr4 2952613 2952616 GAGT - rs375900109 NOP14-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 330276 chr4 185309955 185309955 T C IRF2 Nonsynonymous SNV K336R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.86 330277 chr12 51394166 51394166 C A SLC11A2 Nonsynonymous SNV A152S 0 0.003 0 0 0 1 0 0 0 0 0 0 33 330278 chr4 186423605 186423605 C T rs755255012 PDLIM3 Nonsynonymous SNV R146Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 330279 chr12 52401002 52401002 C G rs369337869 GRASP Nonsynonymous SNV L67V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.39 330280 chr4 187628841 187628841 G A rs200579335 FAT1 Nonsynonymous SNV P714L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 330281 chr1 233122114 233122114 G A rs369238243 PCNX2 Synonymous SNV H1988H 0 0.003 0 0 0 1 0 0 0 0 0 0 3.582 330282 chr4 3441339 3441339 C T RGS12 Synonymous SNV L776L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.808 330283 chr12 54403183 54403183 G C rs371713562 HOXC8 Nonsynonymous SNV V39L 0 0.003 0 0 0 1 0 0 0 0 0 0 19.14 330284 chr4 6612956 6612956 C T rs776475620 MAN2B2 Synonymous SNV S787S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 330285 chr12 55250604 55250627 ACCACTGCAACCACTGCTGCTCCT - rs776366438 MUCL1 P58_A65del 0 0.003 0 0 0 1 0 0 0 0 0 0 330286 chr4 68586509 68586509 C T rs6552111 UBA6-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 5.322 330287 chr1 236706871 236706871 C G LGALS8 Nonsynonymous SNV F187L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 330288 chr4 41496589 41496589 C T rs149800400 LIMCH1 Nonsynonymous SNV R45W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 330289 chr2 207173367 207173367 A G rs747341384 ZDBF2 Nonsynonymous SNV D1372G 0.001 0 0 0 1 0 0 0 0 0 0 0 18.48 330290 chr12 56487322 56487322 C T rs775042280 ERBB3 Nonsynonymous SNV R490C 0 0.003 0 0 0 1 0 0 0 0 0 0 22.2 330291 chr4 74450961 74450961 A T RASSF6 Nonsynonymous SNV M156K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 330292 chr1 238053847 238053847 C G ZP4 Nonsynonymous SNV S30T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.82 330293 chr4 57890236 57890236 T A rs372496663 POLR2B Synonymous SNV S899S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 330294 chr2 219128167 219128167 C T rs200340218 GPBAR1 Synonymous SNV Y240Y 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 330295 chr4 62849238 62849238 T C rs769557014 ADGRL3 Synonymous SNV F965F 0.001 0 0 0 1 0 0 0 0 0 0 0 4.771 330296 chr2 219508617 219508617 G C rs200060838 ZNF142 Nonsynonymous SNV S874R 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 330297 chr4 54967957 54967957 G T rs749731942 GSX2 Synonymous SNV G261G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.19 330298 chr12 82871091 82871091 C G METTL25 Nonsynonymous SNV T473S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.34 330299 chr5 101585419 101585419 C T SLCO4C1 Nonsynonymous SNV V515I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 330300 chr4 75937886 75937886 G A rs144921999 PARM1 Nonsynonymous SNV G99S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.8 330301 chr12 96894667 96894667 T C CFAP54 Nonsynonymous SNV Y125H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 330302 chr12 100466497 100466497 T C rs755051174 UHRF1BP1L Nonsynonymous SNV Y501C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 330303 chr5 118788451 118788451 G C rs762157656 HSD17B4 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.723 330304 chr4 8239349 8239349 C G rs151325767 SH3TC1 Stop gain Y1159X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 330305 chr12 107713742 107713742 A G BTBD11 Nonsynonymous SNV E342G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.3 330306 chr4 84231228 84231228 G A rs146047984 HPSE Synonymous SNV F224F 0.001 0 0 0 1 0 0 0 0 0 0 0 11.08 330307 chr5 134033675 134033675 C G rs184449222 SEC24A Nonsynonymous SNV Q732E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 330308 chr5 134871273 134871273 T C rs775367481 NEUROG1 Synonymous SNV Q36Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 330309 chr1 34080193 34080193 A G rs771868810 CSMD2 Nonsynonymous SNV M2015T 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 330310 chr12 121471459 121471459 C A rs148845781 OASL Stop gain E96X 0 0.003 0 0 0 1 0 0 0 0 0 0 36 330311 chr5 109954205 109954205 T C rs147495908 TMEM232 Nonsynonymous SNV Q276R 0.001 0 0 0 1 0 0 0 0 0 0 0 24 330312 chr5 109960986 109960986 C T rs61730925 TMEM232 Synonymous SNV E250E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.918 330313 chr5 109961013 109961013 T G rs61730869 TMEM232 Nonsynonymous SNV R241S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.012 330314 chr5 109973977 109973977 C A rs148203079 TMEM232 Synonymous SNV A141A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.98 330315 chr5 110443041 110443041 G A rs140155952 WDR36 Nonsynonymous SNV G466D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 330316 chr5 112174131 112174131 G A rs997271472 APC Nonsynonymous SNV C929Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23 330317 chr12 124798924 124798924 C T rs373661739 RFLNA, ZNF664-RFLNA Synonymous SNV T168T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.04 330318 chr12 124171538 124171538 C G rs149430216 TCTN2 Synonymous SNV P239P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.3 330319 chr2 27306198 27306198 G A rs776444866 EMILIN1 Nonsynonymous SNV G587R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.16 330320 chr12 130648429 130648429 G A rs140865835 FZD10 Synonymous SNV L314L 0 0.003 0 0 0 1 0 0 0 0 0 0 2.105 330321 chr5 131066667 131066667 T C FNIP1 Nonsynonymous SNV D95G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 330322 chr5 149998045 149998045 A G SYNPO Nonsynonymous SNV E39G 0 0 0.003 0 0 0 0 1 0 0 0 0 26 330323 chr2 32503231 32503231 C T YIPF4 Nonsynonymous SNV P3S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 330324 chr1 53676776 53676776 G A rs780865183 CPT2 Nonsynonymous SNV R477Q 0 0.003 0 0 0 1 0 0 0 0 0 0 21.7 330325 chr5 154306981 154306981 G T GEMIN5 Nonsynonymous SNV D347E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.08 330326 chr13 25367269 25367269 C T rs150416533 RNF17 Nonsynonymous SNV P342L 0 0.003 0 0 0 1 0 0 0 0 0 0 3.371 330327 chr5 139921838 139921838 C T rs201508064 ANKHD1-EIF4EBP3 Nonsynonymous SNV R2551W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 330328 chr1 55134603 55134603 A G rs776502888 MROH7 Nonsynonymous SNV K461R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.72 330329 chr5 140603370 140603370 C A rs143983419 PCDHB14 Nonsynonymous SNV S98Y 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 330330 chr5 140868906 140868906 C T PCDHGC5 Synonymous SNV Y33Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.125 330331 chr5 140870165 140870165 G A rs141484080 PCDHGC5 Nonsynonymous SNV R453H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 330332 chr5 176882729 176882729 A G PRR7 Synonymous SNV E144E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.755 330333 chr2 62067652 62067652 A T FAM161A Nonsynonymous SNV L163I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 330334 chr13 73343046 73343046 G A rs144957541 DIS3 Nonsynonymous SNV S464F 0 0.003 0 0 0 1 0 0 0 0 0 0 31 330335 chr1 74941242 74941242 G C LRRC53 Nonsynonymous SNV A386G 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 330336 chr13 77847771 77847771 C T rs573990928 MYCBP2 Nonsynonymous SNV V261I 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 330337 chr13 79176527 79176527 T C rs149245376 POU4F1 Nonsynonymous SNV T95A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.417 330338 chr1 85733539 85733539 C A BCL10 Nonsynonymous SNV G147V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 330339 chr1 87185250 87185250 A G rs142378035 SH3GLB1 Nonsynonymous SNV N92S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.665 330340 chr5 168187877 168187877 G T SLIT3 Nonsynonymous SNV L559M 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 330341 chr5 156593120 156593120 C T rs144795715 FAM71B Synonymous SNV A20A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.04 330342 chr1 89613380 89613380 C T rs763391146 GBP7 Nonsynonymous SNV R412Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.219 330343 chr1 89654326 89654326 T C rs777621867 GBP4 Nonsynonymous SNV Y450C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 330344 chr13 113965034 113965034 T G LAMP1 Synonymous SNV T138T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.298 330345 chr13 114058342 114058342 - CCTGTTCCTGAGCCCGTTCCTGAGCCCCTTTCTGGG LOC101928841 Q1387_G1388insAQKGAQERAQEQ 0.001 0 0 0 1 0 0 0 0 0 0 0 330346 chr5 176918130 176918138 AGCGGTCGG - rs764933427 PDLIM7 R137_L139del 0.001 0 0 0 1 0 0 0 0 0 0 0 330347 chr5 178541023 178541023 C T rs190267616 ADAMTS2 Nonsynonymous SNV V1161I 0.002 0 0 0 2 0 0 0 0 0 0 0 16.11 330348 chr14 20940534 20940534 G A rs771994250 PNP Nonsynonymous SNV V27I 0 0.003 0 0 0 1 0 0 0 0 0 0 10.44 330349 chr5 70858128 70858128 A G rs760377005 BDP1 Synonymous SNV L2508L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.969 330350 chr5 177637231 177637231 T A rs747127334 HNRNPAB Nonsynonymous SNV S296T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 330351 chr5 178460326 178460326 G T ZNF879 Nonsynonymous SNV K459N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.057 330352 chr5 167835621 167835621 A G rs201681035 WWC1 Nonsynonymous SNV Y277C 0.001 0 0 0 1 0 0 0 0 0 0 0 18.01 330353 chr5 75427979 75427979 C A SV2C Nonsynonymous SNV A135D 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 330354 chr14 23078738 23078738 C T rs372914678 ABHD4 Synonymous SNV Y287Y 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 330355 chr5 76736746 76736746 A G rs779431344 WDR41 Synonymous SNV Y258Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.502 330356 chr5 34914822 34914822 A C rs754581881 RAD1 Nonsynonymous SNV V59G 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 330357 chr5 86513974 86513974 A G rs254643 LINC01949 0 0 0.007 0 0 0 0 2 0 0 1 0 0.002 330358 chr5 180419871 180419871 C T rs201380186 BTNL3 Synonymous SNV A36A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.604 330359 chr5 98212120 98212120 C T rs199700859 CHD1 Nonsynonymous SNV S1127N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 330360 chr20 34260704 34260704 T G rs371672125 NFS1 Nonsynonymous SNV Q377P 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 330361 chr20 34785956 34785956 C A rs778642222 EPB41L1 Nonsynonymous SNV A480D 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 22.5 330362 chr5 40746985 40746985 G A rs919852919 TTC33 Nonsynonymous SNV R46C 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330363 chr3 12977125 12977125 T C IQSEC1 Nonsynonymous SNV N464S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 330364 chr5 66480005 66480005 C T rs2230521 CD180 Synonymous SNV T222T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.923 330365 chr5 41159288 41159288 C T rs369711642 C6 Synonymous SNV S584S 0.001 0 0 0 1 0 0 0 0 0 0 0 11.98 330366 chr6 118228898 118228898 C G rs745760597 SLC35F1 Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 330367 chr14 60923770 60923770 C T C14orf39 Nonsynonymous SNV S408N 0 0.003 0 0 0 1 0 0 0 0 0 0 9.522 330368 chr5 54603267 54603267 C G rs368005814 DHX29 Synonymous SNV P45P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.986 330369 chr14 61186878 61186878 C A SIX4 Synonymous SNV V383V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.85 330370 chr6 130413937 130413937 A G L3MBTL3 Synonymous SNV A497A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.364 330371 chr14 64936106 64936106 A T rs146036774 AKAP5 Nonsynonymous SNV S332C 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 330372 chr14 65032134 65032134 G A rs139652811 PPP1R36 Nonsynonymous SNV R110Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 330373 chr5 78376518 78376518 T C BHMT2 Synonymous SNV D89D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.644 330374 chr14 65268007 65268007 G A rs776062167 SPTB Synonymous SNV P253P 0 0.003 0 0 0 1 0 0 0 0 0 0 15.25 330375 chr3 148858165 148858165 G A rs144990171 HPS3 Nonsynonymous SNV V198I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 14.31 330376 chr6 146350815 146350815 T C GRM1 Synonymous SNV H54H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 330377 chr6 151293173 151293173 G A rs150253908 MTHFD1L Nonsynonymous SNV V703I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 330378 chr3 155199761 155199761 C T rs935709391 PLCH1 Nonsynonymous SNV V1352M 0.001 0 0 0 1 0 0 0 0 0 0 0 21.9 330379 chr14 75553820 75553820 C T rs775810942 NEK9 Synonymous SNV V918V 0 0.003 0 0 0 1 0 0 0 0 0 0 15.57 330380 chr14 77492155 77492155 C G IRF2BPL Nonsynonymous SNV V661L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.876 330381 chr6 15487647 15487647 C G JARID2 Nonsynonymous SNV S88R 0 0 0.003 0 0 0 0 1 0 0 0 0 21 330382 chr20 61512355 61512355 C T rs758495951 DIDO1 Synonymous SNV S1651S 0 0.003 0 0 0 1 0 0 0 0 0 0 12.95 330383 chr20 61596975 61596975 G A SLC17A9 Nonsynonymous SNV G320D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 330384 chr6 165848782 165848782 G A rs575677994 PDE10A Synonymous SNV T160T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 330385 chr14 94722878 94722878 A G PPP4R4 Synonymous SNV E568E 0 0.003 0 0 0 1 0 0 0 0 0 0 6.569 330386 chr6 117647479 117647479 A G ROS1 Nonsynonymous SNV L1822P 0.001 0 0 0 1 0 0 0 0 0 0 0 28.7 330387 chr6 119136712 119136713 CC - MCM9 E903Rfs*5 0.001 0 0 0 1 0 0 0 0 0 0 0 330388 chr14 100364576 100364576 A T rs772428671 EML1 Synonymous SNV A278A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.829 330389 chr6 24830776 24830776 T C rs753466223 RIPOR2 Nonsynonymous SNV R823G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 330390 chr6 122733526 122733526 A C rs139599852 HSF2 Nonsynonymous SNV Q34H 0.001 0 0 0 1 0 0 0 0 0 0 0 12.84 330391 chr6 26124611 26124611 T G HIST1H2AC Nonsynonymous SNV Y51D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 330392 chr6 26423753 26423753 T C rs2893844 BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.579 330393 chr6 26430658 26430658 A T rs10946830 BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.544 330394 chr14 104646010 104646010 G A rs370881005 KIF26A Synonymous SNV T1844T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.26 330395 chr6 2990373 2990373 C T rs6920013 LINC01011 0 0 0.007 0 0 0 0 2 0 0 1 0 8.011 330396 chr6 2990406 2990406 C T rs6920145 LINC01011 0 0 0.007 0 0 0 0 2 0 0 1 0 5.72 330397 chr6 14118245 14118245 C G rs774322730 CD83 Synonymous SNV P34P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 330398 chr6 35565154 35565154 C T rs781647894 FKBP5 Nonsynonymous SNV R179K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.64 330399 chr15 40235683 40235683 G A rs201248947 EIF2AK4 Synonymous SNV G119G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.38 330400 chr6 41487145 41487145 T C LINC01276 0 0 0.003 0 0 0 0 1 0 0 0 0 1.906 330401 chr3 39307250 39307250 T A rs754530168 CX3CR1 Nonsynonymous SNV I251F 0.001 0 0 0 1 0 0 0 0 0 0 0 18.92 330402 chr6 165715449 165715449 C T C6orf118 Nonsynonymous SNV S121N 0.003 0 0 0 3 0 0 0 0 0 0 0 0.009 330403 chr15 41228865 41228865 G A rs763522611 DLL4 Synonymous SNV P560P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.248 330404 chr21 46897701 46897701 C T rs372859456 COL18A1 Nonsynonymous SNV P528L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.71 330405 chr15 42679977 42679977 C T rs144383442 CAPN3 Synonymous SNV D175D 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.69 330406 chr15 45464431 45464431 G C SHF Nonsynonymous SNV N311K 0 0.003 0 0 0 1 0 0 0 0 0 0 16.5 330407 chr6 54791196 54791196 A T FAM83B Nonsynonymous SNV T158S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 330408 chr15 49301543 49301543 G C SECISBP2L Nonsynonymous SNV L588V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 330409 chr22 21330806 21330806 G A rs200032972 AIFM3 Nonsynonymous SNV V337I 0 0.003 0 0 0 1 0 0 0 0 0 0 0.003 330410 chr6 7910870 7910870 - CCGCCG rs759591654 TXNDC5 A46_D47insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 330411 chr6 8413836 8413836 C G rs184068804 SLC35B3 Nonsynonymous SNV L321F 0 0 0.003 0 0 0 0 1 0 0 0 0 18.25 330412 chr6 26157211 26157211 C T rs763107635 H1-4 Nonsynonymous SNV A198V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 330413 chr15 62985047 62985047 G A rs201885811 TLN2 Synonymous SNV G374G 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 9.885 330414 chr3 52409999 52409999 G C rs999878748 DNAH1 Synonymous SNV R2396R 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 10.42 330415 chr7 100007051 100007051 C T rs199642636 ZCWPW1 Nonsynonymous SNV D291N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 330416 chr22 29130426 29130426 C G rs750596499 CHEK2 Nonsynonymous SNV R95P 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 33 330417 chr15 68489841 68489841 C T rs376708484 CALML4 Nonsynonymous SNV V29I 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 330418 chr22 30695501 30695501 G A TBC1D10A Nonsynonymous SNV R124W 0 0.003 0 0 0 1 0 0 0 0 0 0 33 330419 chr6 35262334 35262334 C T rs757354435 ZNF76 Synonymous SNV H477H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 330420 chr6 36294481 36294481 G T rs201345909 BNIP5 Nonsynonymous SNV A281D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.45 330421 chr22 32234802 32234802 C T rs370487077 DEPDC5 Nonsynonymous SNV P751L 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.9 330422 chr15 75647024 75647024 A G rs142433613 NEIL1 Nonsynonymous SNV R409G 0 0.003 0 0 0 1 0 0 0 0 0 0 9.105 330423 chr15 76019482 76019482 G A rs141773366 ODF3L1 Synonymous SNV T142T 0 0.003 0 0 0 1 0 0 0 0 0 0 9.068 330424 chr15 79265681 79265681 C T rs749987303 RASGRF1 Synonymous SNV T424T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.41 330425 chr6 39281861 39281861 C G rs761146240 KCNK17 Nonsynonymous SNV R79P 0.001 0 0 0 1 0 0 0 0 0 0 0 33 330426 chr7 1049612 1049612 G C rs376054249 C7orf50 Synonymous SNV A99A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.62 330427 chr6 53795014 53795014 G A LOC101927189 0.001 0 0 0 1 0 0 0 0 0 0 0 7.112 330428 chr7 121943939 121943939 A G rs370467502 FEZF1 Nonsynonymous SNV F185L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.579 330429 chr6 56044566 56044566 G A rs374063014 COL21A1 Synonymous SNV D150D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 330430 chr6 56417192 56417192 C T rs12662511 DST Synonymous SNV L2843L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.728 330431 chr6 56422216 56422216 T C rs16887983 DST Synonymous SNV Q2224Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.757 330432 chr6 7310258 7310258 C T rs187392294 SSR1 Synonymous SNV L28L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.35 330433 chr7 131878878 131878878 G A rs200014828 PLXNA4 Synonymous SNV C933C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.25 330434 chr15 101120781 101120781 C T rs150280970 LINS1 Nonsynonymous SNV M89I 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.25 330435 chr16 1823780 1823780 C A EME2 Nonsynonymous SNV P108T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 330436 chr7 100033481 100033481 G T rs745914522 PPP1R35 Nonsynonymous SNV S147R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 330437 chr7 149518596 149518596 G A rs79806814 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 14.21 330438 chr7 18067027 18067027 T C rs748437969 PRPS1L1 Nonsynonymous SNV M127V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.8 330439 chr4 26483654 26483654 C A rs202061123 CCKAR Nonsynonymous SNV S298I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.3 330440 chr4 3449695 3449695 C T rs777526426 HGFAC Synonymous SNV P523P 0.002 0 0 0 2 0 0 0 0 0 0 0 14.51 330441 chr7 29980382 29980382 C T rs750761419 SCRN1 Nonsynonymous SNV E151K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 330442 chr16 22320813 22320813 G A rs376659970 POLR3E Nonsynonymous SNV A80T 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 330443 chr7 130364016 130364016 T C TSGA13 Nonsynonymous SNV K122E 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 330444 chr7 38726253 38726253 G A rs1018756369 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 2.016 330445 chr16 29859116 29859116 A G MVP Nonsynonymous SNV T764A 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 330446 chr2 160862198 160862198 G A rs145687288 PLA2R1 Nonsynonymous SNV P600L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.73 330447 chr16 30389151 30389151 T A rs369183798 MYLPF Nonsynonymous SNV V147E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.3 330448 chr7 43549041 43549041 A G rs11767004 LUARIS 0 0 0.007 0 0 0 0 2 0 0 1 0 1.477 330449 chr2 165551106 165551106 T A COBLL1 Nonsynonymous SNV E932D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.947 330450 chr7 131913141 131913141 A T rs777365293 PLXNA4 Nonsynonymous SNV H564Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.94 330451 chr7 132523227 132523227 G A rs377136983 CHCHD3 Synonymous SNV S152S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 330452 chr7 134678327 134678327 C T rs117732894 AGBL3 Nonsynonymous SNV R70C 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 34 330453 chr16 53672290 53672290 T - rs767018622 RPGRIP1L I998Ffs*5 0 0.003 0 0 0 1 0 0 0 0 0 0 330454 chr16 27777777 27777777 C T rs138259068 KIAA0556 Synonymous SNV P1319P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 18.88 330455 chr16 56918000 56918000 C T rs201130736 SLC12A3 Nonsynonymous SNV A570V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.4 330456 chr7 54827123 54827123 G C rs10268600 LOC100996654 0 0 0.003 0 0 0 0 1 0 0 0 0 5.361 330457 chr7 56020902 56020902 G A rs561047371 MRPS17 Nonsynonymous SNV R5H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 330458 chr2 179479661 179479661 A G rs781080078 TTN Nonsynonymous SNV Y7160H 0 0.003 0 0 0 1 0 0 0 0 0 0 18.7 330459 chr7 151074189 151074189 C T rs373447261 NUB1 Synonymous SNV L600L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 330460 chr7 75544518 75544518 C T rs72553978 MIR4651 0 0 0.003 0 0 0 0 1 0 0 0 0 7.215 330461 chr7 150771165 150771165 A G rs148738466 SLC4A2 Nonsynonymous SNV N850D 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 330462 chr2 185803445 185803471 GCAGCTGCTGCAGCTGCAGCTGCAGCC - rs775620983 ZNF804A A1111_A1119del 0 0.003 0 0 0 1 0 0 0 0 0 0 330463 chr7 16577280 16577280 A C rs909042119 LRRC72 Synonymous SNV R65R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.928 330464 chr7 17369605 17369605 A G rs974098555 AHR Synonymous SNV E160E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.897 330465 chr16 68083416 68083416 C T rs372196314 DUS2 Synonymous SNV I45I 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 330466 chr16 68398959 68398959 C T rs200582075 SMPD3 Nonsynonymous SNV V454I 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330467 chr7 151074223 151074223 T G rs369047105 NUB1 Nonsynonymous SNV L611R 0.001 0 0 0 1 0 0 0 0 0 0 0 28 330468 chr8 103372358 103372358 G A rs148105163 UBR5 Synonymous SNV D109D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.094 330469 chr7 2634595 2634595 G A rs184407101 IQCE Synonymous SNV P410P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.703 330470 chr7 27832708 27832708 C T rs114874327 TAX1BP1 Synonymous SNV H272H 0.001 0 0 0 1 0 0 0 0 0 0 0 8.128 330471 chr16 85954881 85954881 C A IRF8 Nonsynonymous SNV T221N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.2 330472 chr7 30671071 30671071 G A rs773316961 GARS1 Nonsynonymous SNV S552N 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.8 330473 chr16 88786904 88786904 G A rs116855700 PIEZO1 Synonymous SNV F1946F 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 7.82 330474 chr8 119123155 119123155 T C EXT1 Nonsynonymous SNV N44S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.128 330475 chr16 89696829 89696829 G C rs374569343 DPEP1 Nonsynonymous SNV G4A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 330476 chr16 89927141 89927141 C T SPIRE2 Nonsynonymous SNV R505W 0 0.003 0 0 0 1 0 0 0 0 0 0 25.3 330477 chr8 144652700 144652700 G A MROH6 Nonsynonymous SNV P283L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.77 330478 chr8 144671777 144671777 C T rs141488516 EEF1D Nonsynonymous SNV V159M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 330479 chr2 226447076 226447076 C T rs567364084 NYAP2 Nonsynonymous SNV P315S 0 0.003 0 0 0 1 0 0 0 0 0 0 9.663 330480 chr7 56146177 56146177 A G rs185755016 SUMF2 Nonsynonymous SNV N182S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.9 330481 chr7 75615774 75615774 G A rs376693603 POR Nonsynonymous SNV R673H 0.001 0 0 0 1 0 0 0 0 0 0 0 32 330482 chr17 3840883 3840883 G A rs148008479 ATP2A3 Synonymous SNV I716I 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 15.08 330483 chr8 1876675 1876675 A T rs370332891 ARHGEF10 Nonsynonymous SNV N889I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 330484 chr2 239990216 239990216 G C HDAC4 Synonymous SNV T941T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.752 330485 chr8 28574379 28574379 C T rs200615501 EXTL3 Nonsynonymous SNV T268M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 330486 chr8 104343714 104343714 G A rs749153508 FZD6 Nonsynonymous SNV G395S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.791 330487 chr5 177035600 177035600 C T rs139730903 B4GALT7 Nonsynonymous SNV R234C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 330488 chr17 17919931 17919931 C T rs746498324 DRC3 Synonymous SNV I506I 0 0.003 0 0 0 1 0 0 0 0 0 0 19.55 330489 chr8 39331452 39331452 A - rs143674425 ADAM3A 0 0 0.003 0 0 0 0 1 0 0 0 0 330490 chr8 39332219 39332219 G A rs73674563 ADAM3A 0 0 0.007 0 0 0 0 2 0 0 0 0 2.809 330491 chr8 39335423 39335423 A G rs10102780 ADAM3A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.185 330492 chr8 39335442 39335442 - C rs142489301 ADAM3A 0 0 0.003 0 0 0 0 1 0 0 0 0 330493 chr8 11566310 11566310 G C GATA4 Synonymous SNV P163P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.96 330494 chr8 61742911 61742911 A G CHD7 Nonsynonymous SNV M1185V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 330495 chr8 66439415 66439415 C T rs7837563 LINC01299 0 0 0.007 0 0 0 0 2 0 0 1 0 3.066 330496 chr8 69216799 69216799 C T rs4625020 C8orf34-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 3.854 330497 chr8 70744327 70744327 C T SLCO5A1 Synonymous SNV R194R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 330498 chr17 19316049 19316049 G A rs748364466 RNF112 Nonsynonymous SNV E112K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 330499 chr2 42556935 42556935 A G rs370089045 EML4 Nonsynonymous SNV N787S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.63 330500 chr17 29325782 29325782 G A rs200680125 RNF135 Nonsynonymous SNV R291H 0 0.003 0 0 0 1 0 0 0 0 0 0 6.398 330501 chr8 9760699 9760699 G C rs531564 LINC00599 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 330502 chr8 97621710 97621710 C T rs752621915 SDC2 Synonymous SNV D180D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 330503 chr8 142202850 142202850 C T rs573015107 DENND3 Nonsynonymous SNV R1242C 0.001 0 0 0 1 0 0 0 0 0 0 0 2.936 330504 chr5 56111402 56111402 - GGC rs779149827 MAP3K1 A5_G6insA 0.001 0 0 0 1 0 0 0 0 0 0 0 330505 chr9 115216257 115216257 A G rs143216878 C9orf147 Nonsynonymous SNV L160P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.728 330506 chr2 85360900 85360900 C G TCF7L1 Nonsynonymous SNV D31E 0 0.003 0 0 0 1 0 0 0 0 0 0 17.79 330507 chr9 124044601 124044601 C G rs187698642 GSN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.504 330508 chr8 145729731 145729731 G A rs762452001 GPT Nonsynonymous SNV G15E 0.001 0 0 0 1 0 0 0 0 0 0 0 7.637 330509 chr8 145737135 145737135 C T rs746892308 RECQL4 Nonsynonymous SNV R1144H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.6 330510 chr17 40825772 40825772 C A rs369902569 PLEKHH3 Nonsynonymous SNV D127Y 0 0.003 0 0 0 1 0 0 0 0 0 0 24 330511 chr9 125873021 125873021 G A rs200005005 MIR600HG 0 0 0.003 0 0 0 0 1 0 0 0 0 3.078 330512 chr17 41165619 41165619 G A rs145578882 IFI35 Nonsynonymous SNV D168N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 330513 chr17 41926206 41926206 G A rs752017257 CD300LG Synonymous SNV G108G 0 0.003 0 0 0 1 0 0 0 0 0 0 8.246 330514 chr9 127298285 127298285 C T rs373626645 NR6A1 Synonymous SNV T313T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 330515 chr9 128025963 128025989 CAGCACTCCATCTGTAGGTATGTCTGT - rs143312600 GAPVD1 0 0 0.003 0 0 0 0 1 0 0 0 0 330516 chr17 42266577 42266577 G A rs771117391 TMUB2 Nonsynonymous SNV D55N 0 0.003 0 0 0 1 0 0 0 0 0 0 7.279 330517 chr9 130269442 130269442 T C NIBAN2 Synonymous SNV S628S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.097 330518 chr17 42992715 42992715 G A rs57474185 GFAP Nonsynonymous SNV P47L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 18.66 330519 chr9 132903659 132903659 C T rs146819807 GPRACR 0 0 0.003 0 0 0 0 1 0 0 0 0 0.141 330520 chr9 132903680 132903680 T C rs140581154 GPRACR 0 0 0.003 0 0 0 0 1 0 0 0 0 3.036 330521 chr9 132903717 132903717 A G rs138131801 GPRACR 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 330522 chr9 132903768 132903773 AAAAAA - rs782630122 GPRACR 0 0 0.003 0 0 0 0 1 0 0 0 0 330523 chr9 132904115 132904115 G A rs148362732 GPRACR 0 0 0.007 0 0 0 0 2 0 0 0 0 2.022 330524 chr9 132904231 132904231 A G rs140416234 GPRACR 0 0 0.007 0 0 0 0 2 0 0 0 0 0.004 330525 chr9 132904267 132904267 C T rs142735237 GPRACR 0 0 0.007 0 0 0 0 2 0 0 0 0 0.684 330526 chr17 46691974 46691974 G A rs199877083 HOXB8 Synonymous SNV D31D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.145 330527 chr17 47247009 47247009 A G rs748715329 B4GALNT2 Synonymous SNV T480T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.053 330528 chr9 134464263 134464263 T C RAPGEF1 Nonsynonymous SNV D824G 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 330529 chr9 135139746 135139746 G A rs80296256 SETX Synonymous SNV F2638F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.992 330530 chr8 33230122 33230122 C T rs144464494 FUT10 Synonymous SNV E471E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.53 330531 chr17 57287600 57287602 AGA - rs755060224 SMG8 K64del 0 0.003 0 0 0 1 0 0 0 0 0 0 330532 chr8 41792104 41792104 C T rs772850653 KAT6A Nonsynonymous SNV E1212K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.99 330533 chr8 42012213 42012213 A G rs200545949 AP3M2 Nonsynonymous SNV H3R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 330534 chr8 48648054 48648054 - GGTGGT rs761182372 SPIDR *677delinsWW* 0.001 0 0 0 1 0 0 0 0 0 0 0 330535 chr8 52361627 52361627 T C rs199987146 PXDNL Nonsynonymous SNV H434R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 330536 chr9 139391762 139391762 G A rs369845924 NOTCH1 Synonymous SNV N2143N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.577 330537 chr3 126708392 126708392 G A rs377693045 PLXNA1 Nonsynonymous SNV R319Q 0 0.003 0 0 0 1 0 0 0 0 0 0 22.7 330538 chr17 59479120 59479120 T G rs752299385 TBX2 Nonsynonymous SNV I157M 0.001 0 0 0 1 0 0 0 0 0 0 0 25 330539 chr8 70981539 70981539 T C rs150980021 PRDM14 Nonsynonymous SNV N186S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 330540 chr9 140084352 140084352 G A rs374563884 SSNA1 Nonsynonymous SNV G116S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 330541 chr6 137191105 137191105 A T PEX7 Nonsynonymous SNV E237D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.46 330542 chr17 61497662 61497662 T C TANC2 Nonsynonymous SNV I1440T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.72 330543 chr17 61607583 61607583 C T rs745927926 KCNH6 Nonsynonymous SNV R147C 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 330544 chr9 140328697 140328697 G A rs151013088 NOXA1 Nonsynonymous SNV G390D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 330545 chr9 140409897 140409897 G A rs747295601 PNPLA7 Nonsynonymous SNV R362C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 330546 chr9 140777349 140777349 G T rs762965933 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 8.362 330547 chr9 140777350 140777350 G A rs764070018 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 9.358 330548 chr6 150184550 150184550 G C rs761082756 LRP11 Nonsynonymous SNV R203G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.663 330549 chr17 74274201 74274201 G A rs150906638 QRICH2 Synonymous SNV R1496R 0 0.003 0 0 0 1 0 0 0 0 0 0 11.42 330550 chr9 340291 340291 G C DOCK8 Nonsynonymous SNV R482P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 330551 chr17 76129968 76129968 G T TMC8 Nonsynonymous SNV G235C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 330552 chr17 76129991 76129991 C G TMC8 Synonymous SNV L242L 0 0.003 0 0 0 1 0 0 0 0 0 0 4.658 330553 chr17 76399916 76399916 A G rs145352765 PGS1 Nonsynonymous SNV Y383C 0 0.003 0 0 0 1 0 0 0 0 0 0 15.75 330554 chr9 37442411 37442411 G A rs35680410 ZBTB5 Synonymous SNV S46S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.922 330555 chr6 159414898 159414898 G A rs200036002 RSPH3 Synonymous SNV N201N 0.002 0 0 0 2 0 0 0 0 0 0 0 5.012 330556 chr9 5920960 5920960 G A rs200620962 KIAA2026 Nonsynonymous SNV P1679L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 330557 chr9 100085147 100085147 C T rs371546280 CCDC180 Nonsynonymous SNV R442C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 330558 chr9 71395528 71395528 C T rs146421193 FAM122A Nonsynonymous SNV R150W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 330559 chr3 153202385 153202385 C A rs776338697 C3orf79 0 0.003 0 0 0 1 0 0 0 0 0 0 8.092 330560 chr17 79660579 79660579 T C rs769179862 HGS Nonsynonymous SNV Y237H 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 330561 chr17 80363217 80363217 C G OGFOD3 Nonsynonymous SNV E176D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.23 330562 chr17 80622390 80622390 C T rs750392311 RAB40B Nonsynonymous SNV R62Q 0 0.003 0 0 0 1 0 0 0 0 0 0 35 330563 chr9 97691089 97691089 C T rs12338409 LOC101928119 0 0 0.007 0 0 0 0 2 0 0 1 0 8.675 330564 chrM 870 870 C T RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 330565 chr18 5956285 5956285 C A rs964027486 L3MBTL4 Synonymous SNV L593L 0 0.003 0 0 0 1 0 0 0 0 0 0 16.61 330566 chr3 183963083 183963083 G A ALG3 Synonymous SNV L122L 0 0.003 0 0 0 1 0 0 0 0 0 0 10.83 330567 chr18 6966228 6966228 G A rs375262660 LAMA1 Nonsynonymous SNV P2323L 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 330568 chrX 148578003 148578003 G A rs782051908 IDS Synonymous SNV P251P 0 0 0.007 0 0 0 0 2 0 0 1 0 Benign/Likely benign 7.97 330569 chr18 658035 658035 A G rs77400748 TYMSOS Synonymous SNV G71G 0.001 0 0 0 1 0 0 0 0 0 0 0 3.299 330570 chr18 21736941 21736941 T A rs141247688 CABYR Synonymous SNV A394A 0 0.003 0 0 0 1 0 0 0 0 0 0 15.72 330571 chrX 19364664 19364664 A G PDHA1 Nonsynonymous SNV I32V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.001 330572 chr18 28993212 28993212 A G rs150706241 DSG4 Nonsynonymous SNV D945G 0 0.003 0 0 0 1 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 330573 chr3 27763103 27763103 G C EOMES Nonsynonymous SNV P228R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 330574 chr18 46476621 46476621 A G rs978922430 SMAD7 Synonymous SNV A58A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.079 330575 chr9 136501681 136501681 G A DBH Stop gain W63X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 330576 chr3 44672614 44672614 A G ZNF197, ZNF660-ZNF197 Nonsynonymous SNV T151A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.017 330577 chr9 27011947 27011947 A G rs754210956 IFT74 Nonsynonymous SNV K257R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.46 330578 chr18 74729155 74729155 G C MBP Nonsynonymous SNV T70R 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 330579 chr6 64776354 64776354 A G EYS Nonsynonymous SNV L2201P 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 330580 chr6 74446138 74446138 G C rs751382080 CD109 Nonsynonymous SNV L103F 0.001 0 0 0 1 0 0 0 0 0 0 0 15.1 330581 chr19 1005019 1005019 G A rs779544648 GRIN3B Nonsynonymous SNV A507T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.1 330582 chr10 13237225 13237225 C T rs147296108 MCM10 Nonsynonymous SNV P644S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 330583 chr9 78794520 78794520 G A rs572814938 PCSK5 Nonsynonymous SNV D637N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 330584 chr9 35562056 35562056 - GAT FAM166B H258_L259insH 0.001 0 0 0 1 0 0 0 0 0 0 0 330585 chr3 57542589 57542589 G T rs145453282 PDE12 Synonymous SNV P161P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.784 330586 chr10 21185956 21185956 G T NEBL Synonymous SNV V28V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 330587 chr19 3730541 3730541 G A TJP3 Synonymous SNV R150R 0 0.003 0 0 0 1 0 0 0 0 0 0 4.756 330588 chr10 22726395 22726395 G A rs1057183 LOC100499489 0 0 0.003 0 0 0 0 1 0 0 0 0 6.933 330589 chr10 25312731 25312731 T C THNSL1 Synonymous SNV Y193Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 330590 chr19 4290617 4290617 C T rs758005259 SHD Nonsynonymous SNV T337M 0 0.003 0 0 0 1 0 0 0 0 0 0 10.48 330591 chrX 106462111 106462111 G A rs147979953 PIH1D3 Nonsynonymous SNV E82K 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.178 330592 chr19 5711812 5711812 G A rs771880757 LONP1 Synonymous SNV H84H 0 0.003 0 0 0 1 0 0 0 0 0 0 8.823 330593 chr19 3982987 3982987 G A EEF2 Nonsynonymous SNV R144W 0.001 0 0 0 1 0 0 0 0 0 0 0 31 330594 chrX 119675479 119675479 T C CUL4B Nonsynonymous SNV Q474R 0.001 0 0 0 1 0 0 0 0 0 0 0 14.51 330595 chrX 134654989 134654989 T C rs150246034 INTS6L Synonymous SNV Y24Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 330596 chr10 50081694 50081694 C T rs931924379 WDFY4 Synonymous SNV R2300R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.38 330597 chrX 152710356 152710356 C G TREX2 Nonsynonymous SNV R178P 0.001 0 0 0 1 0 0 0 0 0 0 0 29.5 330598 chr10 5415833 5415833 T G rs782202388 UCN3 Nonsynonymous SNV D50E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 330599 chrX 135961392 135961392 A G rs774005414 SNORD61 0.002 0 0 0 2 0 0 0 1 0 0 0 12.41 330600 chrX 15682896 15682896 C T CLTRN Star tloss M1? 0.001 0 0 0 1 0 0 0 0 0 0 0 16.2 330601 chrX 151820193 151820193 G A rs782675594 GABRQ Nonsynonymous SNV R369Q 0.002 0 0 0 2 0 0 0 1 0 0 0 14.04 330602 chr10 70190404 70190404 T A rs201370052 DNA2 Nonsynonymous SNV Y666F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 330603 chrX 36057104 36057104 G A rs1017462546 CFAP47 Nonsynonymous SNV R1272H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.792 330604 chr19 8966765 8966765 C T rs762197996 MUC16 Synonymous SNV S14396S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 330605 chr7 129832578 129832578 C T rs758053205 TMEM209 Nonsynonymous SNV R220H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330606 chrX 49112200 49112200 C T FOXP3 Synonymous SNV E202E 0.001 0 0 0 1 0 0 0 0 0 0 0 11.47 330607 chr7 130003295 130003295 T C CPA5 Synonymous SNV P261P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.169 330608 chr10 75556325 75556325 G A rs887511646 ZSWIM8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 330609 chr19 10404924 10404924 C G rs915300125 ICAM5 Synonymous SNV P640P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.034 330610 chrX 76907782 76907784 TCC - rs398123423 ATRX E1426del 0.001 0 0 0 1 0 0 0 0 0 0 0 330611 chr10 88419749 88419749 C T rs368549247 OPN4 Synonymous SNV L300L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 330612 chrX 85119740 85119740 G A CHM Synonymous SNV D619D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.578 330613 chr19 9213911 9213911 C T rs767027133 OR7G2 Synonymous SNV A24A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.61 330614 chr4 169196612 169196612 A - DDX60 S730Qfs*18 0 0.003 0 0 0 1 0 0 0 0 0 0 330615 chr19 14168208 14168208 C G rs932865274 PALM3 Synonymous SNV A42A 0 0.003 0 0 0 1 0 0 0 0 0 0 21.1 330616 chr19 14262012 14262012 G T ADGRL1 Synonymous SNV A1361A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.341 330617 chr10 95892095 95892095 C T rs373247117 PLCE1 Synonymous SNV L149L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 330618 chr10 97096939 97096939 A C rs770301032 SORBS1 Nonsynonymous SNV V993G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 330619 chr10 99187633 99187633 - T rs773839059 PGAM1 Frameshift insertion L15Ffs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 330620 chr19 10679189 10679189 C T CDKN2D Synonymous SNV Q47Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.35 330621 chr4 186168523 186168523 C T rs753873688 SNX25 Synonymous SNV L5L 0 0.003 0 0 0 1 0 0 0 0 0 0 12.25 330622 chr7 154379740 154379740 G C rs369399467 DPP6 Synonymous SNV P336P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.191 330623 chr19 17547379 17547379 A G rs573622370 TMEM221 Nonsynonymous SNV M255T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.244 330624 chr11 102666019 102666019 C T rs762758502 MMP1 Nonsynonymous SNV R196H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 330625 chr4 3076607 3076618 CAGCAGCAGCAG - HTT Q35_Q38del 0 0.003 0 0 0 1 0 0 0 0 0 0 330626 chr11 105789516 105789516 T C rs748717959 GRIA4 Synonymous SNV L450L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.197 330627 chr7 158828692 158828692 C T rs145308657 VIPR2 Nonsynonymous SNV V238I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.084 330628 chr11 1077670 1077670 C T rs759542520 MUC2 Synonymous SNV R140R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 330629 chr19 16640499 16640499 G A rs755978933 CHERP Synonymous SNV A363A 0.001 0 0 0 1 0 0 0 0 0 0 0 1.722 330630 chr11 110561337 110561337 C G rs760330535 ARHGAP20 Nonsynonymous SNV A18P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 330631 chr11 111384034 111384034 T A rs72556558 LOC728196 0 0 0.003 0 0 0 0 1 0 0 0 0 6.354 330632 chr11 111420399 111420399 A G rs150184126 LAYN Nonsynonymous SNV H3R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 330633 chr11 112088543 112088543 A G rs74874911 BCO2 Synonymous SNV A489A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.982 330634 chr11 112119652 112119652 A G rs7128270 PLET1 Nonsynonymous SNV F165S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.338 330635 chr19 35773507 35773507 C G rs201371612 HAMP Synonymous SNV A9A 0 0.003 0 0 0 1 0 0 0 0 0 0 8.694 330636 chr19 19746368 19746368 G A rs376815324 GMIP Synonymous SNV D443D 0.001 0 0 0 1 0 0 0 0 0 0 0 6.027 330637 chr10 23295905 23295905 T A rs369100341 ARMC3 Synonymous SNV S345S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.184 330638 chr10 27326133 27326133 T C rs61730098 ANKRD26 Synonymous SNV Q892Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.037 330639 chr19 38378706 38378706 T C rs201178399 WDR87 Nonsynonymous SNV K1869E 0 0.003 0 0 0 1 0 0 0 0 0 0 3.304 330640 chr4 7840300 7840300 G A AFAP1 Nonsynonymous SNV P226L 0 0.003 0 0 0 1 0 0 0 0 0 0 23.1 330641 chr19 40542375 40542375 G A rs778557584 ZNF780B Stop gain R131X 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 330642 chr11 128556289 128556289 T C rs532909155 LOC101929538 0 0 0.003 0 0 0 0 1 0 0 0 0 0.753 330643 chr11 132399058 132399058 G A rs1005469984 OPCML Synonymous SNV I141I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 330644 chr7 76903799 76903799 A C rs187057485 CCDC146 Nonsynonymous SNV K424Q 0.001 0 0 0 1 0 0 0 0 0 0 0 7.233 330645 chr19 42753218 42753218 G A rs144812092 ERF Nonsynonymous SNV P274L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 16.28 330646 chr19 44223766 44223766 C T rs560626765 IRGC Synonymous SNV D352D 0 0.003 0 0 0 1 0 0 0 0 0 0 9.156 330647 chr4 89618430 89618430 - CCT rs751115157 NAP1L5 E158_A159insE 0 0.003 0 0 0 1 0 0 0 0 0 0 330648 chr11 2161846 2161846 C G rs765782826 IGF2-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 3.804 330649 chr10 70992601 70992601 G A rs777007060 HKDC1 Nonsynonymous SNV R103Q 0.002 0 0 0 2 0 0 0 0 0 0 0 0.057 330650 chr5 122909130 122909130 C T CSNK1G3 Synonymous SNV Y36Y 0 0.003 0 0 0 1 0 0 0 0 0 0 10.92 330651 chr19 47884581 47884581 G C DHX34 Nonsynonymous SNV G1100R 0 0.003 0 0 0 1 0 0 0 0 0 0 16.49 330652 chr8 124121749 124121749 A G rs61752913 TBC1D31 Nonsynonymous SNV E337G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 330653 chr10 7683954 7683954 C G rs372941993 ITIH5 Nonsynonymous SNV E79Q 0.002 0 0 0 2 0 0 0 0 0 0 0 19.35 330654 chr19 44612027 44612110 GAGTGTGGGAAAAGATTTACTCAGAATTCACAGCTTCATTCTCATCAAAGAGTGCACACTGGAGAAAAGCCATACAAATGTGAT - ZNF224 R576_K603del 0.001 0 0 0 1 0 0 0 0 0 0 0 330655 chr5 134870823 134870823 C T rs768031854 NEUROG1 Stop gain W186X 0 0.003 0 0 0 1 0 0 0 0 0 0 38 330656 chr11 4471474 4471474 G A rs138594066 OR52K2 Nonsynonymous SNV R302H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 330657 chr10 85981821 85981821 C T rs147546091 LRIT2 Nonsynonymous SNV R503H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 330658 chr11 48152247 48152247 C T rs112828875 PTPRJ Nonsynonymous SNV R532W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 330659 chr19 50795617 50795617 C T rs147447646 MYH14 Synonymous SNV L1702L 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 17.65 330660 chr5 140588565 140588565 A C rs551312672 PCDHB12 Nonsynonymous SNV E29A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.18 330661 chr5 140603864 140603864 A G rs782658017 PCDHB14 Nonsynonymous SNV T263A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.098 330662 chr5 140784867 140784867 A G rs375469126 PCDHGA9 Nonsynonymous SNV Q783R 0 0.003 0 0 0 1 0 0 0 0 0 0 7.37 330663 chr5 140793654 140793654 A G rs377653676 PCDHGA10 Synonymous SNV E304E 0 0.003 0 0 0 1 0 0 0 0 0 0 0.002 330664 chr10 98064316 98064316 C A rs749423194 DNTT Nonsynonymous SNV A21D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.399 330665 chr5 140869188 140869188 T C rs765666746 PCDHGC5 Synonymous SNV N127N 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 330666 chr10 97709797 97709797 C T rs182011545 CC2D2B Nonsynonymous SNV L316F 0 0.003 0 0 0 1 0 0 0 0 0 0 16.64 330667 chr5 149225403 149225403 A T rs759902907 PPARGC1B Nonsynonymous SNV K927M 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 330668 chr19 55671298 55671298 C T rs200611170 DNAAF3 Nonsynonymous SNV G445S 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 330669 chr11 102662078 102662078 A G MMP1 Synonymous SNV A328A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.409 330670 chr19 53303619 53303619 T A rs1044858131 ZNF28 Nonsynonymous SNV K440N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 330671 chr11 113935027 113935027 C T rs113757018 ZBTB16 Synonymous SNV S335S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.254 330672 chr11 118376164 118376164 G C KMT2A Nonsynonymous SNV G3186A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.7 330673 chr19 53793360 53793360 C G rs558681340 BIRC8 0.001 0 0 0 1 0 0 0 0 0 0 0 0.011 330674 chr19 54632709 54632709 G A PRPF31 Synonymous SNV S446S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.7 330675 chr19 58058479 58058479 T C ZNF550 Nonsynonymous SNV K378R 0 0.003 0 0 0 1 0 0 0 0 0 0 23.3 330676 chr19 55598237 55598237 G A rs748412444 EPS8L1 Nonsynonymous SNV A518T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.4 330677 chr19 55967033 55967033 G A rs558740353 ISOC2 Synonymous SNV L106L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.211 330678 chr8 87060778 87060778 A G rs73255219 PSKH2 Synonymous SNV S357S 0.002 0 0 0 2 0 0 0 0 0 0 0 6.326 330679 chr8 87226827 87226827 C T rs753052558 SLC7A13 Nonsynonymous SNV V410I 0.002 0 0 0 2 0 0 0 0 0 0 0 10.5 330680 chr8 87591084 87591084 A G rs149119556 CNGB3 Synonymous SNV L646L 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 5.355 330681 chr5 54696084 54696084 C T rs143135345 MTREX Synonymous SNV D772D 0 0.003 0 0 0 1 0 0 0 0 0 0 11.48 330682 chr11 62592967 62592967 G A rs146258093 STX5 Synonymous SNV F156F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 330683 chr19 57889267 57889267 G A rs750639022 ZNF547 Nonsynonymous SNV R308K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.076 330684 chr11 65211735 65211754 TGTGTGTGTGTGTGTGTGTG - NEAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 330685 chr9 113151854 113151854 C T rs550607864 SVEP1 Nonsynonymous SNV R3279H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.2 330686 chr11 65635466 65635466 G A EFEMP2 Nonsynonymous SNV R346C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 330687 chr20 18297177 18297177 A G rs762792889 ZNF133 Nonsynonymous SNV N542S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 330688 chr11 2005729 2005729 C T rs538671576 MRPL23-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 8.926 330689 chr11 20065338 20065338 T - NAV2-AS2 0 0.003 0 0 0 1 0 0 0 0 0 0 330690 chr20 20021370 20021370 T G rs748895824 CRNKL1 Nonsynonymous SNV E422A 0 0.003 0 0 0 1 0 0 0 0 0 0 28.4 330691 chr11 2429062 2429062 C G TRPM5 Nonsynonymous SNV V955L 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 330692 chr20 31024071 31024071 A C rs147905623 ASXL1 Nonsynonymous SNV T1125P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 330693 chr11 70017037 70017037 C T rs779223717 ANO1 Synonymous SNV L748L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 330694 chr20 40162203 40162203 T C rs148499011 CHD6 Nonsynonymous SNV N14D 0 0.003 0 0 0 1 0 0 0 0 0 0 10.16 330695 chr9 130509466 130509466 C T rs368414685 SH2D3C Synonymous SNV S250S 0.002 0 0 0 2 0 0 0 0 0 0 0 21.4 330696 chr20 43851702 43851702 C T rs546357756 SEMG2 Stop gain R477X 0 0.003 0 0 0 1 0 0 0 0 0 0 34 330697 chr9 131399270 131399270 G A rs587777097 WDR34 Stop gain Q158X 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 36 330698 chr6 112460438 112460438 C T rs145321940 LAMA4 Nonsynonymous SNV G1056S 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 13.16 330699 chr6 117869375 117869375 C A rs745471127 DCBLD1 Nonsynonymous SNV P641T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.54 330700 chr20 44259531 44259531 C T rs775742334 WFDC10A Synonymous SNV I38I 0.001 0 0 0 1 0 0 0 0 0 0 0 3.458 330701 chr6 138539192 138539192 G C PBOV1 Nonsynonymous SNV T114S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.333 330702 chr6 143092672 143092672 C T rs755030077 HIVEP2 Synonymous SNV T1068T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.18 330703 chr6 148865201 148865201 A T rs145956049 SASH1 Synonymous SNV V626V 0 0.003 0 0 0 1 0 0 0 0 0 0 Likely benign 0.107 330704 chr12 109907354 109907354 G A KCTD10 Synonymous SNV F61F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 330705 chr12 112237700 112237700 C T rs183108437 MIR6761 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.103 330706 chr11 55110739 55110739 - A rs749534121 OR4A16 Frameshift insertion T24Nfs*63 0.001 0 0 0 1 0 0 0 0 0 0 0 330707 chr6 157744516 157744516 C T rs201491283 TMEM242 Nonsynonymous SNV A6T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.188 330708 chr12 113593197 113593197 G A rs771789319 CFAP73 Nonsynonymous SNV E275K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 330709 chr21 32492940 32492940 C T rs761348938 TIAM1 Nonsynonymous SNV D541N 0 0.003 0 0 0 1 0 0 0 0 0 0 34 330710 chr21 33371473 33371473 C T rs754132615 HUNK Synonymous SNV A707A 0 0.003 0 0 0 1 0 0 0 0 0 0 13.66 330711 chr12 121465552 121465552 A G rs775442247 OASL Synonymous SNV Y242Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 330712 chr12 124832433 124832433 G A rs961135055 NCOR2 Nonsynonymous SNV P1327L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 330713 chr11 57472099 57472099 T A MED19 Nonsynonymous SNV S194C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 330714 chr11 57182525 57182525 A C rs995667185 SLC43A3 Nonsynonymous SNV F275C 0.001 0 0 0 1 0 0 0 0 0 0 0 17.85 330715 chr21 40570978 40570978 T C BRWD1 Synonymous SNV S1788S 0.001 0 0 0 1 0 0 0 0 0 0 0 1.37 330716 chr12 25343559 25343559 T C rs754365535 CASC1 Nonsynonymous SNV K62E 0 0 0.003 0 0 0 0 1 0 0 0 0 18.5 330717 chr12 26383978 26383978 C T rs151230889 SSPN Nonsynonymous SNV T131M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 330718 chr12 27829999 27829999 C T rs773833677 PPFIBP1 Nonsynonymous SNV R529C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 330719 chr9 990648 990648 G A rs368610772 DMRT3 Synonymous SNV L354L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.401 330720 chr22 20100278 20100278 G A rs781394811 TRMT2A Synonymous SNV P580P 0 0.003 0 0 0 1 0 0 0 0 0 0 5.735 330721 chr22 20114550 20114550 A G rs372271212 RANBP1 Nonsynonymous SNV K271R 0 0.003 0 0 0 1 0 0 0 0 0 0 17.34 330722 chr11 61079315 61079315 T C rs776344314 DDB1 Nonsynonymous SNV I740V 0 0.003 0 0 0 1 0 0 0 0 0 0 13.26 330723 chr11 61511654 61511654 G A rs767787697 DAGLA Nonsynonymous SNV S941N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 330724 chrX 13338042 13338042 G T ATXN3L Synonymous SNV I4I 0.002 0 0 0 2 0 0 0 1 0 0 0 3.104 330725 chr12 49460416 49460416 G A rs145928451 RHEBL1 Synonymous SNV V85V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 330726 chrX 140270805 140270805 G A rs782186744 LDOC1 Synonymous SNV D134D 0.002 0 0 0 2 0 0 0 1 0 0 0 9.018 330727 chr11 63766802 63766802 C T MACROD1 0 0.003 0 0 0 1 0 0 0 0 0 0 25.2 330728 chr12 50790099 50790099 C T rs150701119 FAM186A Nonsynonymous SNV A57T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 330729 chrX 153688967 153688967 C T rs188830708 PLXNA3 Synonymous SNV P148P 0.002 0 0 0 2 0 0 0 1 0 0 0 12.76 330730 chr22 21998230 21998230 A C rs751957822 SDF2L1 Synonymous SNV L144L 0.001 0 0 0 1 0 0 0 0 0 0 0 7.823 330731 chr11 64604283 64604283 G A rs142790484 CDC42BPG Nonsynonymous SNV H438Y 0.001 0 0 0 1 0 0 0 0 0 0 0 6.637 330732 chr12 53007607 53007607 G A rs138418112 KRT73 Synonymous SNV S283S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 330733 chr22 38046479 38046479 C T rs533512693 LOC101927051 0 0.003 0 0 0 1 0 0 0 0 0 0 1.422 330734 chr22 26888290 26888290 T C TFIP11 Nonsynonymous SNV T704A 0.001 0 0 0 1 0 0 0 0 0 0 0 20.8 330735 chr22 38484938 38484938 C T rs750504278 BAIAP2L2 Nonsynonymous SNV R312H 0 0.003 0 0 0 1 0 0 0 0 0 0 26.6 330736 chr12 56333211 56333211 G A rs886771397 DGKA Nonsynonymous SNV D203N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 330737 chr11 66481106 66481106 G A rs201821131 SPTBN2 Synonymous SNV P256P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 5.828 330738 chr11 67926194 67926194 C T rs565603169 KMT5B Nonsynonymous SNV R368Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 35 330739 chr11 6790137 6790137 G A OR2AG2 Synonymous SNV L18L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 330740 chr10 102255216 102255216 G C rs117861052 SEC31B Nonsynonymous SNV R800G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.4 330741 chr22 35463215 35463215 T C rs61739191 ISX Synonymous SNV D45D 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 0.002 330742 chr6 75858106 75858106 A T rs758640189 COL12A1 Nonsynonymous SNV Y255N 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 24.6 330743 chr6 76599954 76599954 C G MYO6 Nonsynonymous SNV R947G 0 0.003 0 0 0 1 0 0 0 0 0 0 23 330744 chr10 104230621 104230621 G A MFSD13A Nonsynonymous SNV D151N 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330745 chr22 50685390 50685390 G C rs755336865 HDAC10 Nonsynonymous SNV N456K 0 0.003 0 0 0 1 0 0 0 0 0 0 6.254 330746 chr22 50720039 50720039 G A rs781014569 PLXNB2 Nonsynonymous SNV R1160W 0 0.003 0 0 0 1 0 0 0 0 0 0 34 330747 chr22 50728972 50728972 C T PLXNB2 Synonymous SNV L14L 0 0.003 0 0 0 1 0 0 0 0 0 0 8.713 330748 chr11 7631655 7631655 T G rs763986531 PPFIBP2, PPFIBP2 Nonsynonymous SNV V207G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 330749 chrX 12906675 12906675 A C rs150367536 TLR7 Synonymous SNV P1016P 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 330750 chrX 15266963 15266963 A G rs374373927 ASB9 Synonymous SNV F221F 0 0.003 0 0 0 1 0 0 0 0 0 0 0.311 330751 chr22 42473986 42473986 G A rs200769228 PHETA2 Stop gain W230X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 330752 chr11 823733 823733 C A PNPLA2 Nonsynonymous SNV P266H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.28 330753 chr12 80899969 80899969 A T PTPRQ Nonsynonymous SNV L641F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 330754 chrX 19410543 19410543 G A rs770760036 MAP3K15 Nonsynonymous SNV P748L 0 0.003 0 0 0 1 0 0 0 0 0 0 24 330755 chrX 20030506 20030506 A G rs765572779 MAP7D2 Nonsynonymous SNV L592P 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 330756 chr12 88381705 88381705 T C rs1054253226 C12orf50 Nonsynonymous SNV T247A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 330757 chr12 96350664 96350664 C A rs370602154 AMDHD1 Nonsynonymous SNV R171S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 330758 chr11 94180501 94180501 T C rs144896235 MRE11 Nonsynonymous SNV N556S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 6.897 330759 chrX 73744493 73744493 G A rs12849757 SLC16A2 Nonsynonymous SNV S292N 0 0.003 0 0 0 1 0 0 0 0 0 0 13.6 330760 chr12 101505436 101505436 G T ANO4 Nonsynonymous SNV V800L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 330761 chr13 110434728 110434728 G A rs756544989 IRS2 Nonsynonymous SNV P1225S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 330762 chr12 107141301 107141301 T C RFX4 Nonsynonymous SNV C480R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 330763 chr12 106477684 106477684 C T NUAK1 Synonymous SNV L179L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 330764 chr10 135086367 135086367 G A rs763588593 ADAM8 Stop gain Q175X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330765 chr13 26411405 26411405 C T rs756930305 ATP8A2 Synonymous SNV G888G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 330766 chr12 112654695 112654695 C T rs768805905 HECTD4 Nonsynonymous SNV V2433I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 330767 chr12 111291296 111291296 A G rs375376941 CCDC63 Nonsynonymous SNV K33E 0 0.003 0 0 0 1 0 0 0 0 0 0 24.8 330768 chrX 153175477 153175477 G A rs782660805 ARHGAP4 Nonsynonymous SNV A740V 0 0.003 0 0 0 1 0 0 0 0 0 0 7.191 330769 chr12 113445542 113445542 G T rs758249045 OAS2 Nonsynonymous SNV L563F 0 0.003 0 0 0 1 0 0 0 0 0 0 24.6 330770 chr12 114385267 114385267 G A rs766999662 RBM19 Nonsynonymous SNV P427S 0 0.003 0 0 0 1 0 0 0 0 0 0 28.5 330771 chr13 45983193 45983193 A G rs61733507 SLC25A30 Synonymous SNV D27D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.52 330772 chr12 123424824 123424824 G C rs116062676 ABCB9 Nonsynonymous SNV S463C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 330773 chr13 77460087 77460087 T G KCTD12 Nonsynonymous SNV Q66P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 330774 chr1 3427357 3427357 G A rs201723836 MEGF6 Synonymous SNV C408C 0 0 0 1 0 0 0.003 0 0 0 0 0 4.802 330775 chr13 96361560 96361560 T G rs61758425 DNAJC3 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.52 330776 chr1 6355012 6355012 G A rs747904502 ACOT7 Synonymous SNV V247V 0 0 0 1 0 0 0.003 0 0 0 0 0 6.395 330777 chr10 60148570 60148570 A - rs544132101 TFAM E148Kfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 330778 chr14 103395542 103395542 G T AMN Nonsynonymous SNV V200L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 330779 chr7 148876693 148876693 C T rs373592293 ZNF398 Nonsynonymous SNV R577C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 330780 chr7 151135056 151135056 A G rs368633382 CRYGN Nonsynonymous SNV L99P 0 0.003 0 0 0 1 0 0 0 0 0 0 4.071 330781 chr10 115966084 115966084 A G rs199857847 TDRD1 Nonsynonymous SNV D460G 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 330782 chr14 23456460 23456460 G A C14orf93 Synonymous SNV N527N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.666 330783 chr14 31204049 31204049 A C rs573736371 SCFD1 Synonymous SNV T445T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.366 330784 chr14 31619379 31619379 A G HECTD1 Nonsynonymous SNV Y661H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 330785 chr12 48107116 48107116 C T rs773948164 ENDOU Synonymous SNV G206G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.25 330786 chr14 51080032 51080032 C G ATL1 Nonsynonymous SNV A229G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.619 330787 chr11 113670000 113670000 C T USP28 Nonsynonymous SNV E733K 0 0.003 0 0 0 1 0 0 0 0 0 0 27.7 330788 chr12 50589625 50589625 C T rs781719966 LIMA1 Nonsynonymous SNV E38K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.9 330789 chr12 50746951 50746951 G A FAM186A Stop gain Q1222X 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330790 chr12 52789820 52789820 C T rs150284604 KRT82 Nonsynonymous SNV R422H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 330791 chr1 27100333 27100333 C A ARID1A Nonsynonymous SNV P1349T 0 0 0 1 0 0 0.003 0 0 0 0 0 16.1 330792 chr1 27100371 27100371 G C rs774312766 ARID1A Nonsynonymous SNV M1361I 0 0 0 1 0 0 0.003 0 0 0 0 0 18.19 330793 chr14 59112512 59112512 A T DACT1 Nonsynonymous SNV N354Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 330794 chr10 25684896 25684896 A G GPR158 Synonymous SNV K355K 0 0.003 0 0 0 1 0 0 0 0 0 0 4.219 330795 chr1 32256269 32256269 G A rs902244790 SPOCD1 Nonsynonymous SNV R676C 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 330796 chr14 70490121 70490121 T C rs147977932 SMOC1 Synonymous SNV I416I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.396 330797 chr14 70517730 70517730 C T rs143210756 SLC8A3 Nonsynonymous SNV S66N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 330798 chr14 73721705 73721705 C T PAPLN Stop gain Q536X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 330799 chr14 74534274 74534274 - A rs528185481 ALDH6A1 0 0 0.003 0 0 0 0 1 0 0 0 0 330800 chr14 74989569 74989569 G A rs369010057 LTBP2 Synonymous SNV C861C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 330801 chr1 42047957 42047957 G A rs147650565 HIVEP3 Nonsynonymous SNV R838C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 330802 chr12 57348757 57348757 C A RDH16 Nonsynonymous SNV V169L 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 330803 chr14 95035869 95035869 C A rs149219625 SERPINA4 Synonymous SNV I444I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 330804 chr1 52826172 52826172 T C CC2D1B Nonsynonymous SNV N176S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.14 330805 chr1 54360089 54360089 A G DIO1 Nonsynonymous SNV Q69R 0 0 0 1 0 0 0.003 0 0 0 0 0 12.57 330806 chr1 55136188 55136188 C T rs139403235 MROH7 Nonsynonymous SNV P470S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 330807 chr11 123777161 123777161 C T OR8D4 Nonsynonymous SNV T8I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.06 330808 chr8 10465086 10465086 T C rs780796353 RP1L1 Synonymous SNV Q2174Q 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 0.002 330809 chr8 107670373 107670373 G C rs757335388 OXR1 Synonymous SNV P53P 0 0.003 0 0 0 1 0 0 0 0 0 0 13.21 330810 chr15 34038351 34038351 C T rs200246566 RYR3 Nonsynonymous SNV T2661M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.5 330811 chr1 71418711 71418711 T C rs141688168 PTGER3 Nonsynonymous SNV Q379R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 330812 chr8 124141338 124141338 A C TBC1D31 Nonsynonymous SNV D217A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.949 330813 chr11 126326321 126326321 C T rs367838355 KIRREL3 Synonymous SNV E257E 0.001 0 0 0 1 0 0 0 0 0 0 0 6.672 330814 chr1 82456609 82456609 G A ADGRL2 Nonsynonymous SNV S1331N 0 0 0 1 0 0 0.003 0 0 0 0 0 11.89 330815 chr15 43069364 43069364 C T rs370495535 TTBK2 Nonsynonymous SNV R425H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 34 330816 chr8 125464513 125464513 T C rs772303216 TRMT12 X449Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.69 330817 chr15 45386847 45386847 G T DUOX2 Nonsynonymous SNV L1480M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 330818 chr15 45415096 45415096 G A rs113753068 DUOXA1 Synonymous SNV I39I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 330819 chr8 133811393 133811393 C T rs200752861 PHF20L1 Nonsynonymous SNV S161L 0 0.003 0 0 0 1 0 0 0 0 0 0 20.5 330820 chr13 23915332 23915332 G A SACS Synonymous SNV L748L 0.002 0 0 0 2 0 0 0 0 0 0 0 2.873 330821 chr15 54306482 54306482 A G rs375455661 UNC13C Nonsynonymous SNV N461S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.234 330822 chr15 62457149 62457149 G T rs941434073 C2CD4B Nonsynonymous SNV A12E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 330823 chr8 145109945 145109945 G A rs571638310 OPLAH Nonsynonymous SNV T799M 0 0.003 0 0 0 1 0 0 0 0 0 0 31 330824 chr8 145158610 145158610 C T rs992686614 SHARPIN Nonsynonymous SNV G16D 0 0.003 0 0 0 1 0 0 0 0 0 0 17.95 330825 chr11 10800610 10800610 C T rs759543085 CTR9 Synonymous SNV A1136A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.67 330826 chr15 74948396 74948396 G A rs562794805 EDC3 Synonymous SNV S21S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 330827 chr8 146156877 146156877 G A rs145159168 ZNF16 Synonymous SNV P432P 0 0.003 0 0 0 1 0 0 0 0 0 0 6.662 330828 chr1 150241199 150241199 C T rs376233738 APH1A Synonymous SNV A4A 0 0 0 1 0 0 0.003 0 0 0 0 0 16.6 330829 chr1 152324225 152324225 C T rs987021120 FLG2 Nonsynonymous SNV G2013R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 330830 chr15 90378833 90378833 T G rs758249917 AP3S2, ARPIN-AP3S2 Nonsynonymous SNV K166Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 330831 chr1 154901589 154901589 C G rs148544851 PMVK Nonsynonymous SNV D61H 0 0 0.003 1 0 0 0.003 1 0 0 0 0 31 330832 chr14 21894298 21894298 T C CHD8 Nonsynonymous SNV S569G 0.002 0 0 0 2 0 0 0 0 0 0 0 17.09 330833 chr16 1536452 1536452 G A rs201571366 PTX4 Nonsynonymous SNV R304C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 330834 chr16 20818358 20818358 C A rs756589714 REXO5 Nonsynonymous SNV A28E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 330835 chr14 36942998 36942998 A G rs557896478 SFTA3 0.001 0 0 0 1 0 0 0 0 0 0 0 12.12 330836 chr14 39517914 39517914 T C SEC23A Nonsynonymous SNV Y560C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 330837 chr1 167384891 167384891 G C rs771620851 POU2F1 Nonsynonymous SNV L652F 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 330838 chr16 27518428 27518428 C T GTF3C1 Nonsynonymous SNV C431Y 0 0 0.003 0 0 0 0 1 0 0 0 0 17.55 330839 chr16 2820618 2820618 C T SRRM2 Nonsynonymous SNV R2717W 0 0 0.003 0 0 0 0 1 0 0 0 0 25 330840 chr16 28506544 28506544 A C rs28460286 APOBR Nonsynonymous SNV E61A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.58 330841 chr16 28506882 28506882 A G rs28576169 APOBR Nonsynonymous SNV R174G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 330842 chr16 28507006 28507006 C G rs113462555 APOBR Nonsynonymous SNV P215R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 330843 chr16 31090138 31090138 C T rs754492709 ZNF646 Synonymous SNV P831P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 330844 chr16 31202087 31202087 T C rs377010944 FUS Synonymous SNV S438S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.984 330845 chr16 335652 335652 C T rs373330491 PDIA2 Synonymous SNV T356T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.664 330846 chr16 4721364 4721364 G A rs201846590 MIR6769A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.834 330847 chr1 186375305 186375305 A G rs190275235 ODR4 Nonsynonymous SNV D341G 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 330848 chr1 196646682 196646682 C T rs763131155 CFH Synonymous SNV Y168Y 0 0 0 1 0 0 0.003 0 0 0 0 0 1.741 330849 chr16 48295385 48295385 - GAAGAT rs34863177 LONP2 D222_N223insED 0 0 0.003 0 0 0 0 1 0 0 0 0 330850 chr16 4949289 4949289 C T PPL Nonsynonymous SNV G235S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.2 330851 chr1 200376707 200376707 T C ZNF281 Synonymous SNV Q709Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 330852 chr9 120475210 120475210 C G rs772243015 TLR4 Nonsynonymous SNV N68K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 330853 chr9 120476083 120476083 C T rs770054449 TLR4 Synonymous SNV S359S 0 0.003 0 0 0 1 0 0 0 0 0 0 6.292 330854 chr1 204128585 204128585 C T rs764665629 REN Nonsynonymous SNV D211N 0 0 0 1 0 0 0.003 0 0 0 0 0 28.7 330855 chr11 6662504 6662504 C T rs200795531 DCHS1 Nonsynonymous SNV R114H 0 0.003 0 0 0 1 0 0 0 0 0 0 15.85 330856 chr16 70285012 70285012 G A rs769894271 EXOSC6 Synonymous SNV R264R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.698 330857 chr1 207640050 207640050 C G CR2 Nonsynonymous SNV P80A 0 0 0 1 0 0 0.003 0 0 0 0 0 23.9 330858 chr14 91655343 91655343 A G rs780274921 DGLUCY Nonsynonymous SNV T342A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 330859 chr9 130453000 130453000 G A rs764054014 MIR3911 0 0.003 0 0 0 1 0 0 0 0 0 0 5.944 330860 chr15 29418512 29418512 G A rs61736882 FAM189A1 Nonsynonymous SNV R396C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.2 330861 chr9 135374803 135374803 C A CFAP77 Nonsynonymous SNV H114N 0 0.003 0 0 0 1 0 0 0 0 0 0 20.1 330862 chr9 136211040 136211040 G A rs368856906 MED22 Nonsynonymous SNV T118M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.02 330863 chr9 136905383 136905383 G A rs201664190 BRD3 Synonymous SNV A472A 0 0.003 0 0 0 1 0 0 0 0 0 0 17.27 330864 chr16 89811437 89811437 T C rs748713183 FANCA Nonsynonymous SNV R1186G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.6 330865 chr17 10223550 10223550 C G rs202075781 MYH13 Nonsynonymous SNV E1090Q 0 0 0.007 0 0 0 0 2 0 0 0 0 29.6 330866 chr9 140115258 140115258 G A RNF208 Nonsynonymous SNV A136V 0 0.003 0 0 0 1 0 0 0 0 0 0 2.483 330867 chr1 235611729 235611729 C A rs143917509 TBCE Nonsynonymous SNV L376I 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 22.4 330868 chr15 52903786 52903786 C G rs373266393 FAM214A Nonsynonymous SNV E137D 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 330869 chr12 109490426 109490426 - CGG USP30-AS1 0 0.003 0 0 0 1 0 0 0 0 0 0 330870 chr9 35906602 35906602 - CGCCA HRCT1 Frameshift insertion H107Rfs*53 0 0.003 0 0 0 1 0 0 0 0 0 0 330871 chr17 28537578 28537578 G A rs140140655 SLC6A4 Synonymous SNV A468A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 330872 chr15 65682513 65682513 G A rs370791828 IGDCC4 Synonymous SNV S796S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.03 330873 chr1 248344308 248344308 G A OR2M2 Nonsynonymous SNV A341T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.291 330874 chr9 72071977 72071977 C T rs749295663 APBA1 Nonsynonymous SNV D532N 0 0.003 0 0 0 1 0 0 0 0 0 0 32 330875 chr15 72978591 72978591 C T rs769894375 BBS4 Nonsynonymous SNV T8M 0.001 0 0 0 1 0 0 0 0 0 0 0 11.57 330876 chr15 73616510 73616510 T C rs778801845 HCN4 Nonsynonymous SNV N688S 0.001 0 0 0 1 0 0 0 0 0 0 0 13.16 330877 chr17 3397740 3397740 A G rs1057516995 ASPA Nonsynonymous SNV H244R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 24.5 330878 chr15 74043349 74043349 G A rs372544619 INSYN1 Synonymous SNV R41R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.925 330879 chr17 36878360 36878360 G A rs980672591 MLLT6 Nonsynonymous SNV S891N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.78 330880 chr15 75015147 75015147 G A rs754416936 CYP1A1 Nonsynonymous SNV R98W 0 0.003 0 0 0 1 0 0 0 0 0 0 27.8 330881 chr15 80414152 80414152 A G rs201923212 ZFAND6 Nonsynonymous SNV M85V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 330882 chr15 81294747 81294747 G A TLNRD1 Synonymous SNV Q45Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.192 330883 chr11 6244863 6244863 C T rs200122900 FAM160A2 Nonsynonymous SNV A252T 0 0.003 0 0 0 1 0 0 0 0 0 0 18.99 330884 chr15 81221375 81221375 G A rs769501741 CEMIP Synonymous SNV P824P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.553 330885 chr15 81636301 81636301 C T rs369492533 TMC3 Nonsynonymous SNV R535Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 330886 chr15 85431083 85431083 G T SLC28A1 Nonsynonymous SNV S31I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.722 330887 chr17 39394441 39394441 C T rs199788567 KRTAP9-8 Synonymous SNV C46C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.523 330888 chr15 86273811 86273811 C T AKAP13 Synonymous SNV D1006D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.48 330889 chr12 133198505 133198505 G A rs199955493 P2RX2 Nonsynonymous SNV E383K 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 13.46 330890 chr12 106826199 106826199 T A rs138249161 POLR3B Nonsynonymous SNV V465E 0.002 0 0 0 2 0 0 0 0 0 0 0 Pathogenic 25.9 330891 chr16 11001211 11001211 C T CIITA Nonsynonymous SNV S621L 0.002 0 0 0 2 0 0 0 0 0 0 0 0.278 330892 chr2 46706733 46706733 A G TMEM247 Synonymous SNV A3A 0 0 0 1 0 0 0.003 0 0 0 0 0 7.754 330893 chr17 45490253 45490253 A G rs137885108 EFCAB13 Nonsynonymous SNV N702S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 330894 chrX 32613963 32613963 C G rs140340626 DMD Nonsynonymous SNV V497L 0 0.005 0 0 0 2 0 0 0 1 0 0 Benign/Likely benign 24.6 330895 chr17 46675105 46675105 C A HOXB6 Synonymous SNV S136S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 330896 chr2 60773357 60773357 A C rs147322058 BCL11A Nonsynonymous SNV L45R 0 0 0 1 0 0 0.003 0 0 0 0 0 26 330897 chr16 1821391 1821391 G A rs752689169 NME3 Nonsynonymous SNV R23C 0.001 0 0 0 1 0 0 0 0 0 0 0 32 330898 chr16 2028415 2028415 G A rs150335097 TBL3 Nonsynonymous SNV E746K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 330899 chr16 2028416 2028416 A T rs138475784 TBL3 Nonsynonymous SNV E746V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 330900 chr2 73429948 73429948 G A rs780197622 NOTO Nonsynonymous SNV E52K 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 330901 chr16 2129064 2129064 T C rs756679047 TSC2 Synonymous SNV L756L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 5.181 330902 chr16 2285289 2285289 - AG E4F1 Frameshift insertion N515Rfs*29 0.002 0 0 0 2 0 0 0 0 0 0 0 330903 chr2 74906897 74906897 C T SEMA4F Nonsynonymous SNV A470V 0 0 0 1 0 0 0.003 0 0 0 0 0 17.44 330904 chr2 80529551 80529551 A C rs148119501 LRRTM1 Nonsynonymous SNV V465G 0 0 0 1 0 0 0.003 0 0 0 0 0 22.2 330905 chr17 59485586 59485586 C T rs373091690 TBX2 Nonsynonymous SNV R620C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 330906 chr17 59926565 59926565 T A BRIP1 Synonymous SNV A144A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.59 330907 chr17 62079143 62079143 A G PRR29 Synonymous SNV E173E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.132 330908 chr2 96934317 96934317 G A rs144987111 CIAO1 Synonymous SNV P204P 0 0 0 1 0 0 0.003 0 0 0 0 0 11.27 330909 chr2 100055677 100055677 A G REV1 Nonsynonymous SNV F200S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.642 330910 chr12 2062324 2062332 TGCTGCTGC - rs777300841 DCP1B Q259_Q261del 0.002 0 0 0 2 0 0 0 0 0 0 0 330911 chr12 2062332 2062332 - TGC DCP1B Q261_E262insQ 0.001 0 0 0 1 0 0 0 0 0 0 0 330912 chr2 102314996 102314996 A G MAP4K4 Nonsynonymous SNV Y40C 0 0 0 1 0 0 0.003 0 0 0 0 0 24 330913 chr16 31371673 31371673 C T rs775201614 ITGAX Synonymous SNV A250A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.98 330914 chr17 71348775 71348775 G A rs768549467 SDK2 Synonymous SNV D1865D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.615 330915 chr17 71410882 71410882 C T rs200600787 SDK2 Synonymous SNV P795P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 330916 chr2 109414937 109414937 T G rs779379173 CCDC138 Synonymous SNV R205R 0 0 0 1 0 0 0.003 0 0 0 0 0 4.671 330917 chr10 123843123 123843123 A G rs758613158 TACC2 Nonsynonymous SNV I370V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.137 330918 chr16 4793054 4793054 C T rs144417396 C16orf71 Nonsynonymous SNV A265V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 330919 chr2 121729541 121729541 G A rs370677655 GLI2 Nonsynonymous SNV V237I 0 0 0 1 0 0 0.003 0 0 0 0 0 23.6 330920 chr17 74397185 74397185 A C rs200976427 UBE2O Nonsynonymous SNV I267M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 330921 chr2 128408980 128408980 G A rs752231720 GPR17 Nonsynonymous SNV R224H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 330922 chr16 424393 424393 C T rs373734313 PGAP6 Nonsynonymous SNV R528H 0 0.003 0 0 0 1 0 0 0 0 0 0 27.6 330923 chr12 48380939 48380939 A G rs35012272 COL2A1 Synonymous SNV G360G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 7.521 330924 chr17 7643190 7643190 C T rs201088267 DNAH2 Nonsynonymous SNV T437M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 330925 chr16 57752364 57752364 G A rs746869486 DRC7 Nonsynonymous SNV D330N 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 330926 chr16 58079273 58079273 G A rs567050671 MMP15 Nonsynonymous SNV A645T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.54 330927 chr17 7760615 7760616 AG - rs747350902 NAA38 W43Gfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 330928 chr17 78318792 78318792 T C RNF213 Synonymous SNV A2219A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.026 330929 chr16 66620950 66620950 C T rs769502816 CMTM2 Synonymous SNV V112V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.518 330930 chr17 79577256 79577256 C G NPLOC4 Nonsynonymous SNV V139L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 330931 chr17 79632613 79632613 C A rs746836760 OXLD1 Nonsynonymous SNV G21V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 330932 chr17 79893021 79893021 C G rs550840914 PYCR1 Nonsynonymous SNV K107N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.39 330933 chr16 70190282 70190282 A C LOC400541 0.001 0 0 0 1 0 0 0 0 0 0 0 1.337 330934 chr16 711451 711451 C T rs777467249 WDR90 Nonsynonymous SNV T1208I 0.002 0 0 0 2 0 0 0 0 0 0 0 7.75 330935 chr10 22207792 22207792 C T rs140168773 DNAJC1 Nonsynonymous SNV M215I 0 0.003 0 0 0 1 0 0 0 0 0 0 16 330936 chr2 167279911 167279911 T C rs753622478 SCN7A Nonsynonymous SNV K962R 0 0 0 1 0 0 0.003 0 0 0 0 0 15.79 330937 chr16 75646378 75646378 C G ADAT1 Nonsynonymous SNV G182A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.499 330938 chr18 10472004 10472004 C T APCDD1 Synonymous SNV T240T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 330939 chr2 179439688 179439688 T C TTN Nonsynonymous SNV H14659R 0 0 0 1 0 0 0.003 0 0 0 0 0 11.09 330940 chr2 179577979 179577979 T C rs766862084 TTN Nonsynonymous SNV H7717R 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 12.38 330941 chr16 84229288 84229288 C T rs139952223 ADAD2 Nonsynonymous SNV A346V 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 330942 chr18 31803096 31803096 T C rs185815640 NOL4 Nonsynonymous SNV N41S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.27 330943 chr16 84482178 84482178 G A ATP2C2 Nonsynonymous SNV E364K 0.001 0 0 0 1 0 0 0 0 0 0 0 21.7 330944 chr12 20968726 20968726 A C SLCO1B3, SLCO1B3-SLCO1B7 Nonsynonymous SNV K18N 0 0.003 0 0 0 1 0 0 0 0 0 0 2.961 330945 chr2 180830700 180830700 T A CWC22 Nonsynonymous SNV D407V 0 0 0 1 0 0 0.003 0 0 0 0 0 25.4 330946 chr18 49088524 49088524 T C rs1040005360 LINC01630 0 0 0.003 0 0 0 0 1 0 0 0 0 2.088 330947 chr18 55342087 55342087 G A ATP8B1 Nonsynonymous SNV R600W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 330948 chr10 56423994 56423994 C T rs368180234 PCDH15 Nonsynonymous SNV C10Y 0 0.003 0 0 0 1 0 0 0 0 0 0 11.41 330949 chr2 187703752 187703752 G C ZSWIM2 Stop gain S143X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 330950 chr18 70867993 70867993 G A rs147959671 LOC400655 0 0 0.003 0 0 0 0 1 0 0 0 0 0.571 330951 chr17 11790209 11790209 C T rs72815427 DNAH9 Nonsynonymous SNV A3680V 0.002 0 0 0 2 0 0 0 0 0 0 0 23.2 330952 chr12 91347492 91347506 TCCTCTTCCAGCTCC - rs777282653 CCER1 L340_E344del 0.002 0 0 0 2 0 0 0 0 0 0 0 330953 chr12 49310830 49310830 T C rs151189508 CCDC65 Nonsynonymous SNV I40T 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 10.83 330954 chr12 96288924 96288924 A G CCDC38 Synonymous SNV S205S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.79 330955 chr2 219735816 219735816 C A rs751343972 WNT6 Synonymous SNV R50R 0 0 0 1 0 0 0.003 0 0 0 0 0 16.11 330956 chr2 220494014 220494014 G A rs368460412 SLC4A3 Synonymous SNV G122G 0 0 0 1 0 0 0.003 0 0 0 0 0 4.391 330957 chr12 53454468 53454468 A G rs770187273 TNS2 Synonymous SNV R936R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.948 330958 chr2 232393599 232393599 C T rs773883370 NMUR1 Nonsynonymous SNV E45K 0 0 0 1 0 0 0.003 0 0 0 0 0 26.8 330959 chr19 17291843 17291843 T C MYO9B Nonsynonymous SNV F776S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 330960 chr17 32964773 32964773 A T TMEM132E Nonsynonymous SNV Y916F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 330961 chr2 239051551 239051551 - C KLHL30 Frameshift insertion F297Lfs*100 0 0 0 1 0 0 0.003 0 0 0 0 0 330962 chr12 68715190 68715190 G T rs762987152 MDM1 Nonsynonymous SNV S269R 0 0.003 0 0 0 1 0 0 0 0 0 0 28.1 330963 chr3 7620773 7620773 A G rs146912842 GRM7 Nonsynonymous SNV N727S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.041 330964 chr19 307350 307350 G A rs764352723 MIER2 Nonsynonymous SNV P426L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.21 330965 chr19 35842662 35842662 G A rs765530284 FFAR1 Nonsynonymous SNV G70R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 330966 chr3 37163140 37163140 G A LRRFIP2 Nonsynonymous SNV H74Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.95 330967 chr11 123596952 123596952 C A rs780986215 ZNF202 Nonsynonymous SNV C343F 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 330968 chr19 37238840 37238840 C T ZNF850 Synonymous SNV E1002E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 330969 chr19 37618088 37618089 AG - ZNF420 E66Ifs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 330970 chr19 38948721 38948721 G A rs202105428 RYR1 Synonymous SNV A652A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.38 330971 chr19 39868386 39868386 A G rs149585231 SAMD4B Nonsynonymous SNV T456A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 330972 chr19 39871382 39871382 G A rs777285428 SAMD4B Nonsynonymous SNV R602Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 330973 chr19 40421554 40421554 G C FCGBP Nonsynonymous SNV S789R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 330974 chr13 114322396 114322396 A G rs762444027 GRK1 Nonsynonymous SNV Y232C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 330975 chr3 46580601 46580601 A G LRRC2 Synonymous SNV L142L 0 0 0 1 0 0 0.003 0 0 0 0 0 8.987 330976 chr14 71267770 71267770 G A MAP3K9 Nonsynonymous SNV T145I 0 0.003 0 0 0 1 0 0 0 0 0 0 13.57 330977 chr11 128781173 128781173 C T KCNJ5 Nonsynonymous SNV A2V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.5 330978 chr19 42266072 42266072 A - CEACAM6 A301Pfs*15 0 0 0.003 0 0 0 0 1 0 0 0 0 330979 chr19 42853694 42853694 G A rs146355445 MEGF8 Nonsynonymous SNV R714Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 330980 chr3 48338291 48338291 T C NME6 Nonsynonymous SNV K40R 0 0 0 1 0 0 0.003 0 0 0 0 0 8.698 330981 chr3 48602363 48602363 G A rs748706824 COL7A1 Nonsynonymous SNV R2891C 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 330982 chr3 49139639 49139639 A T rs774469871 QARS1 Nonsynonymous SNV N199K 0 0 0 1 0 0 0.003 0 0 0 0 0 9.633 330983 chr3 50338130 50338130 G A rs782610786 HYAL1 Synonymous SNV S334S 0 0 0 1 0 0 0.003 0 0 0 0 0 7.402 330984 chr14 47504375 47504375 A G rs186881365 MDGA2 Nonsynonymous SNV V484A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.96 330985 chr17 636356 636356 C T rs566117538 TLCD3A Synonymous SNV H47H 0.001 0 0 0 1 0 0 0 0 0 0 0 15.69 330986 chr19 46997149 46997149 G A rs201060790 PNMA8B Nonsynonymous SNV P525L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 330987 chr3 62261550 62261550 G T rs745466795 PTPRG Synonymous SNV L1156L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.819 330988 chr17 6023749 6023749 C T rs771569288 WSCD1 Nonsynonymous SNV P499L 0 0.003 0 0 0 1 0 0 0 0 0 0 26.5 330989 chr17 61613308 61613308 G A KCNH6 Synonymous SNV Q460Q 0 0.003 0 0 0 1 0 0 0 0 0 0 2.453 330990 chr17 62049749 62049749 C T rs41280110 SCN4A Nonsynonymous SNV V119I 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 0.062 330991 chr3 74347201 74347201 G A rs538384202 CNTN3 Nonsynonymous SNV P770S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 330992 chr17 65485 65485 G A rs370194292 RPH3AL Nonsynonymous SNV P250L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 330993 chr14 68217795 68217795 G - ZFYVE26 Q2464Rfs*14 0.001 0 0 0 1 0 0 0 0 0 0 0 330994 chr3 111343203 111343203 C T rs201691670 CD96 Stop gain R425X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 330995 chr19 50139047 50139047 C G rs199924228 RRAS Synonymous SNV S172S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.56 330996 chr19 50413034 50413034 C A rs748658204 NUP62 Nonsynonymous SNV A11S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 330997 chr19 51671566 51671566 G C rs201936615 SIGLEC17P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.819 330998 chr3 126272178 126272178 G A rs751438371 C3orf22 Nonsynonymous SNV A19V 0 0 0 1 0 0 0.003 0 0 0 0 0 15.22 330999 chr3 142037699 142037699 T A rs752196281 XRN1 Nonsynonymous SNV H1484L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 331000 chr17 79986122 79986122 C G LRRC45 Nonsynonymous SNV R354G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 331001 chr19 58102399 58102399 A T rs771301685 ZIK1 Nonsynonymous SNV Y304F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 331002 chr3 158963679 158963679 A G rs181641808 IQCJ, IQCJ-SCHIP1 Synonymous SNV G19G 0 0 0 1 0 0 0.003 0 0 0 0 0 7.914 331003 chr19 58806854 58806854 G A rs76894571 ZNF8 Synonymous SNV E560E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 331004 chr19 58981184 58981184 A G rs144108577 ZNF324 Nonsynonymous SNV R71G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.38 331005 chr15 43299402 43299402 G A rs142285781 UBR1 Nonsynonymous SNV T1097M 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 32 331006 chr19 7141803 7141803 G C INSR Nonsynonymous SNV P844R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 331007 chr19 7505015 7505015 G A rs1012091004 ARHGEF18 Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.461 331008 chr3 173997144 173997144 C T rs369811377 NLGN1 Synonymous SNV T451T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.08 331009 chr19 831737 831737 G A rs201462708 AZU1 Nonsynonymous SNV V206I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 331010 chr3 184076816 184076816 C T rs745828736 CLCN2 Nonsynonymous SNV R56Q 0 0 0 1 0 0 0.003 0 0 0 0 0 18.37 331011 chr3 184295514 184295514 C T rs74912992 EPHB3 Synonymous SNV D516D 0 0 0 1 0 0 0.003 0 0 0 0 0 17.25 331012 chr18 29052254 29052254 C T DSG3 Synonymous SNV P635P 0.002 0 0 0 2 0 0 0 0 0 0 0 13.91 331013 chr19 8996340 8996342 GTT - rs767200802 MUC16 N13744del 0 0 0.003 0 0 0 0 1 0 0 0 0 331014 chr3 193220347 193220347 C A ATP13A4 Nonsynonymous SNV D106Y 0 0 0 1 0 0 0.003 0 0 0 0 0 15.02 331015 chr18 3452222 3452223 CT - rs202189171 TGIF1 P83Sfs*60 0 0.003 0 0 0 1 0 0 0 0 0 0 331016 chr3 194081146 194081146 G A rs991914210 LRRC15 Synonymous SNV L209L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.753 331017 chr3 194325068 194325068 C A TMEM44 Nonsynonymous SNV R375L 0 0 0 1 0 0 0.003 0 0 0 0 0 22.9 331018 chr19 9058639 9058639 C G rs377243148 MUC16 Nonsynonymous SNV V9603L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 331019 chr18 43502554 43502554 C T rs767301545 EPG5 Nonsynonymous SNV A951T 0.002 0 0 0 2 0 0 0 0 0 0 0 34 331020 chr18 51889280 51889280 T G C18orf54 Nonsynonymous SNV I224M 0.002 0 0 0 2 0 0 0 0 0 0 0 14.91 331021 chr15 70348659 70348659 C T rs764899809 TLE3 Nonsynonymous SNV A366T 0.002 0 0 0 2 0 0 0 0 0 0 0 15.61 331022 chr3 197618416 197618416 T A rs770795237 IQCG Synonymous SNV I366I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.47 331023 chr18 65180779 65180779 G C DSEL Nonsynonymous SNV A356G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.93 331024 chr19 9524153 9524153 - T rs762052983 ZNF266 Frameshift insertion M483Nfs*13 0 0 0.003 0 0 0 0 1 0 0 0 0 331025 chr4 998052 998052 A C IDUA Synonymous SNV T479T 0 0 0 2 0 0 0.005 0 0 0 0 1 0.002 331026 chr16 15814107 15814107 T C MYH11 Synonymous SNV A1618A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.006 331027 chr14 95030027 95030027 A G rs200122285 SERPINA4 Nonsynonymous SNV T107A 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 331028 chr1 112524708 112524708 T C rs142744204 KCND3 Nonsynonymous SNV K214R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.9 331029 chr1 113189838 113189838 A G rs369340611 CAPZA1 Nonsynonymous SNV I16V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 331030 chr4 13616151 13616151 G A rs1001945812 BOD1L1 Synonymous SNV S281S 0 0 0 1 0 0 0.003 0 0 0 0 0 4.005 331031 chr11 65546410 65546410 G A rs772478919 AP5B1 Synonymous SNV P518P 0 0.003 0 0 0 1 0 0 0 0 0 0 9.317 331032 chr4 15964176 15964176 C T rs151064854 FGFBP2 Nonsynonymous SNV G193R 0 0 0 1 0 0 0.003 0 0 0 0 0 5.914 331033 chr4 20570533 20570533 C T rs759282159 SLIT2 Synonymous SNV N994N 0 0 0 1 0 0 0.003 0 0 0 0 0 13.38 331034 chr11 66083374 66083374 C A CD248 Nonsynonymous SNV E375D 0 0.003 0 0 0 1 0 0 0 0 0 0 19.92 331035 chr15 91489925 91489925 C T rs949088045 UNC45A Synonymous SNV D282D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.98 331036 chr19 10476394 10476394 G A rs56107150 TYK2 Synonymous SNV F270F 0.002 0 0 0 2 0 0 0 0 0 0 0 Likely benign 7.261 331037 chr11 66359897 66359897 G A rs759687487 CCDC87 Nonsynonymous SNV P197L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.12 331038 chr11 68178983 68178983 G A LRP5 Nonsynonymous SNV V219M 0 0.003 0 0 0 1 0 0 0 0 0 0 29.6 331039 chr11 68337218 68337218 C T rs967031297 PPP6R3 Synonymous SNV N215N 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 331040 chr1 149885129 149885129 G A rs375023424 SV2A Synonymous SNV D88D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.234 331041 chr4 47853921 47853921 T C rs191483982 NFXL1 Synonymous SNV S820S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.094 331042 chr11 694943 694943 G A rs745547969 DEAF1 Synonymous SNV G35G 0 0.005 0 0 0 2 0 0 0 1 0 0 15.9 331043 chr19 14507286 14507286 G T rs756808351 ADGRE5 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 331044 chr16 1826079 1826079 C T rs777777467 EME2 Nonsynonymous SNV A327V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 331045 chr19 14877789 14877789 C A ADGRE2 0.002 0 0 0 2 0 0 0 0 0 0 0 16.84 331046 chr19 17032736 17032736 C T rs374021755 CPAMD8 Nonsynonymous SNV R1203Q 0.001 0 0 0 1 0 0 0 0 0 0 0 33 331047 chr1 156818793 156818802 GTCTGCCTCC - rs747371183 INSRR E495Afs*55 0 0 0.003 0 0 0 0 1 0 0 0 0 331048 chr4 81121251 81121251 T A PRDM8 Nonsynonymous SNV I6N 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 23.7 331049 chr16 67404943 67404943 A G rs754340640 LRRC36 Nonsynonymous SNV H310R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 331050 chr16 68021473 68021473 G A rs758957088 DPEP2 Nonsynonymous SNV S308F 0 0.003 0 0 0 1 0 0 0 0 0 0 22.3 331051 chr19 18778787 18778787 C T rs781031900 KLHL26 Stop gain Q223X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 331052 chr19 19049619 19049619 G A rs139040912 HOMER3 Nonsynonymous SNV A30V 0.001 0 0 0 1 0 0 0 0 0 0 0 33 331053 chr19 19136501 19136501 A G rs143818323 SUGP2 Nonsynonymous SNV V219A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 331054 chr1 16272218 16272218 G A rs375080171 ZBTB17 Nonsynonymous SNV S136L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 331055 chr19 19729420 19729420 G A rs770173658 PBX4 Nonsynonymous SNV P7S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.42 331056 chr19 1818712 1818712 G A rs759196875 REXO1 Synonymous SNV P965P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.529 331057 chr1 167038264 167038264 T C rs768722072 GPA33 Nonsynonymous SNV I104V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 331058 chr1 169564076 169564076 G A rs757489907 SELP Nonsynonymous SNV A714V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.015 331059 chr1 171123302 171123302 C T rs115841123 FMO6P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.164 331060 chr19 2416556 2416556 G C TMPRSS9 Nonsynonymous SNV R555P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.68 331061 chr1 173834601 173834622 ACATGTACCTTTAAAAGGTATG - rs764829207 GAS5 0 0 0.003 0 0 0 0 1 0 0 0 0 331062 chr4 129776847 129776847 G C rs149983712 JADE1 Synonymous SNV G241G 0 0 0 1 0 0 0.003 0 0 0 0 0 10.7 331063 chr19 33167408 33167408 T C RGS9BP Nonsynonymous SNV V80A 0.001 0 0 0 1 0 0 0 0 0 0 0 15.52 331064 chr19 33666418 33666418 G A rs150484610 WDR88 Synonymous SNV S453S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.125 331065 chr1 180240364 180240364 G A LHX4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.815 331066 chr12 110206893 110206893 G T FAM222A Nonsynonymous SNV A387S 0 0.003 0 0 0 1 0 0 0 0 0 0 0.024 331067 chr12 111785869 111785869 G A rs761372938 CUX2 Nonsynonymous SNV A1339T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.2 331068 chr4 153874672 153874672 C T rs199815161 FHDC1 Nonsynonymous SNV R174W 0 0 0 1 0 0 0.003 0 0 0 0 0 34 331069 chr4 154625685 154625685 C G rs5743701 TLR2 Synonymous SNV L542L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.008 331070 chr1 184764742 184764742 G A NIBAN1 Nonsynonymous SNV S719F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 331071 chr4 156274109 156274109 G C rs146097526 MAP9 Nonsynonymous SNV T548S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.331 331072 chr1 1870421 1870421 C T CFAP74 Nonsynonymous SNV D962N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 331073 chr4 164271853 164271853 T C NPY5R Nonsynonymous SNV I143T 0 0 0 1 0 0 0.003 0 0 0 0 0 25 331074 chr4 166239117 166239117 T C rs760383121 KLHL2 Synonymous SNV Y417Y 0 0 0 1 0 0 0.003 0 0 0 0 0 0.49 331075 chr16 67977989 67977989 A G LCAT Nonsynonymous SNV S6P 0.001 0 0 0 1 0 0 0 0 0 0 0 20.3 331076 chr19 39009883 39009883 C T RYR1 Nonsynonymous SNV R3350W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 331077 chr1 204120839 204120839 C T ETNK2 Nonsynonymous SNV A48T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 331078 chr1 215848088 215848088 A G USH2A Nonsynonymous SNV Y4389H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 331079 chr12 352899 352899 A T rs150889568 SLC6A13 Nonsynonymous SNV Y95N 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 331080 chr1 226037719 226037719 G A rs577425586 TMEM63A Synonymous SNV L655L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.6 331081 chr19 46519406 46519406 C A rs113745251 CCDC61 Nonsynonymous SNV R314S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 331082 chr16 89347140 89347140 C G rs762451759 ANKRD11 Nonsynonymous SNV G1937A 0.002 0 0 0 2 0 0 0 0 0 0 0 22.9 331083 chr19 46329576 46329576 C T rs374631540 SYMPK Nonsynonymous SNV R746Q 0.002 0 0 0 2 0 0 0 0 0 0 0 24.4 331084 chr19 48821738 48821738 C T rs58966182 CCDC114 Nonsynonymous SNV R52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25.7 331085 chr1 235505849 235505849 G C rs146421372 GGPS1 Nonsynonymous SNV W222S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 331086 chr1 235599883 235599883 C - rs750781063 TBCE Stop gain L196* 0 0 0.003 0 0 0 0 1 0 0 0 0 331087 chr5 74652231 74652231 G A rs756807553 HMGCR Synonymous SNV Q595Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 331088 chr19 49703917 49703917 C T TRPM4 Nonsynonymous SNV A589V 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 331089 chr19 49814226 49814226 A G rs746958635 SLC6A16 Nonsynonymous SNV W127R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 331090 chr1 237951416 237951416 C G rs779309213 RYR2 Nonsynonymous SNV A4486G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.4 331091 chr1 240071510 240071510 G A rs960010296 CHRM3 Synonymous SNV R253R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.564 331092 chr12 52818389 52818389 G A KRT75 Nonsynonymous SNV A523V 0 0.003 0 0 0 1 0 0 0 0 0 0 11.05 331093 chr12 53008439 53008439 G A rs142246988 KRT73 Nonsynonymous SNV T248M 0 0.003 0 0 0 1 0 0 0 0 0 0 13.39 331094 chr12 53164964 53164964 G A rs375239846 KRT76 Nonsynonymous SNV R435C 0 0.003 0 0 0 1 0 0 0 0 0 0 26.2 331095 chr19 50155488 50155488 C G rs762618878 SCAF1 Synonymous SNV S614S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.056 331096 chr1 247920961 247920961 A C rs200878517 OR1C1 Nonsynonymous SNV L250V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 331097 chr5 101709074 101709074 T C rs146381310 SLCO6A1 Synonymous SNV K461K 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 0.005 331098 chr12 6219682 6219682 G A rs2229444 VWF Synonymous SNV S130S 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign/Likely benign 13.88 331099 chr1 32084823 32084823 G A HCRTR1 Synonymous SNV Q10Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.526 331100 chr5 139907817 139907817 C T ANKHD1, ANKHD1-EIF4EBP3 Synonymous SNV L1762L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.868 331101 chr17 35902582 35902582 G A SYNRG Synonymous SNV D820D 0.002 0 0 0 2 0 0 0 0 0 0 0 6.714 331102 chr5 140176363 140176363 C T rs782183971 PCDHA2 Nonsynonymous SNV A605V 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 331103 chr19 56203144 56203144 G A rs201327656 EPN1 Nonsynonymous SNV V238I 0 0.003 0 0 0 1 0 0 0 0 0 0 20.6 331104 chr12 7287938 7287938 G A rs147467911 CLSTN3 Synonymous SNV V133V 0 0.003 0 0 0 1 0 0 0 0 0 0 6.714 331105 chr19 55879686 55879686 G A rs745885451 IL11 Synonymous SNV H28H 0.002 0 0 0 2 0 0 0 0 0 0 0 1.968 331106 chr5 145838680 145838680 A G rs113361353 TCERG1 Synonymous SNV Q224Q 0 0 0 1 0 0 0.003 0 0 0 0 0 0.006 331107 chr1 43688568 43688568 G A CFAP57 Nonsynonymous SNV R869Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 331108 chr1 43892414 43892414 T C rs200981894 SZT2 Synonymous SNV H1024H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 331109 chr19 56953853 56953853 G T rs537486398 ZNF667 Nonsynonymous SNV P171T 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 331110 chr5 154397082 154397084 CTT - rs778306879 KIF4B F1223del 0 0 0 1 0 0 0.003 0 0 0 0 0 331111 chr13 103446061 103446061 T C POGLUT2 Nonsynonymous SNV R162G 0 0.003 0 0 0 1 0 0 0 0 0 0 13.08 331112 chr5 167674827 167674827 G A rs200427229 TENM2 Nonsynonymous SNV G2056R 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 331113 chr5 167841446 167841446 C T rs61730020 WWC1 Synonymous SNV N345N 0 0 0 1 0 0 0.003 0 0 0 0 0 16.44 331114 chr19 6002809 6002809 G A RFX2 Nonsynonymous SNV R500W 0.002 0 0 0 2 0 0 0 0 0 0 0 34 331115 chr5 172353572 172353572 C T ERGIC1 Nonsynonymous SNV P181S 0 0 0 1 0 0 0.003 0 0 0 0 0 21.2 331116 chr17 53024674 53024677 GTAA - TOM1L1 0.001 0 0 0 1 0 0 0 0 0 0 0 331117 chr1 89616151 89616151 - T rs200922375 GBP7 Frameshift insertion L245Tfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 331118 chr17 61611580 61611580 A G KCNH6 Nonsynonymous SNV I337V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 331119 chr17 33258011 33258011 C T rs143249349 CCT6B Synonymous SNV E432E 0 0.003 0 0 0 1 0 0 0 0 0 0 14.22 331120 chr6 18218068 18218068 C T rs142860049 KDM1B Synonymous SNV Y547Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.407 331121 chr17 62506365 62506365 G A CEP95 Nonsynonymous SNV D75N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 331122 chr13 99061643 99061643 G C rs376255939 FARP1 Nonsynonymous SNV G489A 0 0.003 0 0 0 1 0 0 0 0 0 0 14.07 331123 chr19 9639965 9639965 G A rs149507515 ZNF426 Synonymous SNV Y214Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.118 331124 chr6 28264629 28264629 G A rs140761201 PGBD1 Nonsynonymous SNV V227I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.179 331125 chr1 100920988 100920993 ATTGTT - CDC14A I183_V184del 0.002 0 0 0 2 0 0 0 0 0 0 0 331126 chr6 34507315 34507315 G A SPDEF Nonsynonymous SNV S220L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 331127 chr6 34507317 34507317 A G SPDEF Synonymous SNV T219T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.062 331128 chr17 72832690 72832690 C T rs141452653 TMEM104 Nonsynonymous SNV A452V 0.002 0 0 0 2 0 0 0 0 0 0 0 14.68 331129 chr20 30193580 30193580 C T ID1 Synonymous SNV S130S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.64 331130 chr1 112302137 112302137 T C rs771297079 DDX20 Nonsynonymous SNV L171S 0.002 0 0 0 2 0 0 0 0 0 0 0 25.1 331131 chr1 112999030 112999030 A G rs145418031 CTTNBP2NL Nonsynonymous SNV M306V 0.002 0 0 0 2 0 0 0 0 0 0 0 Benign 0.002 331132 chr1 1139565 1139565 G A rs61761323 TNFRSF18 Synonymous SNV N150N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.987 331133 chr20 32377327 32377327 G A rs751098136 ZNF341 Synonymous SNV T566T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 331134 chr1 117208909 117208909 G A IGSF3 Synonymous SNV L14L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.82 331135 chr6 42996865 42996865 A C rs750587298 RRP36 Nonsynonymous SNV K222Q 0 0 0 1 0 0 0.003 0 0 0 0 0 23.1 331136 chr20 3802786 3802786 C T rs926453611 AP5S1 Nonsynonymous SNV H8Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 331137 chr20 42693489 42693489 G A rs142800786 TOX2 Nonsynonymous SNV V276I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 331138 chr6 47650251 47650251 C T rs375798170 ADGRF2 Synonymous SNV I652I 0 0 0 1 0 0 0.003 0 0 0 0 0 12.52 331139 chr20 44839178 44839178 G T CDH22 Nonsynonymous SNV P352T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.68 331140 chr20 47872477 47872477 C T rs139411491 ZNFX1 Nonsynonymous SNV R891H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 331141 chr20 47990568 47990568 C T rs767889610 KCNB1 Nonsynonymous SNV G510E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 331142 chr6 56765342 56765342 G A rs78633225 DST Synonymous SNV P98P 0 0 0 1 0 0 0.003 0 0 0 0 0 15 331143 chr6 76600974 76600976 AAG - rs727504743 MYO6 E970del 0 0 0 1 0 0 0.003 0 0 0 0 0 331144 chr20 58475823 58475823 T C rs968985028 SYCP2 Nonsynonymous SNV I411M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 331145 chr1 155003044 155003044 G A DCST2 Nonsynonymous SNV L295F 0.001 0 0 0 1 0 0 0 0 0 0 0 21.1 331146 chr17 51064642 51064642 A G C17orf112 0 0.003 0 0 0 1 0 0 0 0 0 0 6.316 331147 chr6 106959684 106959684 A G rs764431402 CRYBG1 Nonsynonymous SNV D231G 0 0 0 1 0 0 0.003 0 0 0 0 0 19.98 331148 chr1 158645948 158645948 T G SPTA1 Nonsynonymous SNV K365N 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 331149 chr20 9288523 9288523 C A rs145938987 PLCB4 Nonsynonymous SNV A21E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 331150 chr21 15596855 15596855 G A RBM11 Synonymous SNV K143K 0 0 0.003 0 0 0 0 1 0 0 0 0 13 331151 chr6 121482109 121482109 C T rs75788605 TBC1D32 Synonymous SNV P888P 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 12.26 331152 chr21 30414358 30414358 C G USP16 Nonsynonymous SNV P351R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 331153 chr6 123588881 123588881 C T rs199986608 TRDN Nonsynonymous SNV R585Q 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 8.937 331154 chr1 16262238 16262238 G A rs375335337 SPEN Nonsynonymous SNV R3168Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 331155 chr1 17312574 17312574 G T rs773697361 ATP13A2 Nonsynonymous SNV P1128Q 0.001 0 0 0 1 0 0 0 0 0 0 0 1.399 331156 chr21 33949090 33949090 - C rs541034925 C21orf59-TCP10L, TCP10L Frameshift insertion V215Cfs*49 0 0 0.003 0 0 0 0 1 0 0 0 0 331157 chr21 34100459 34100459 G T rs1028586725 PAXBP1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.589 331158 chr18 32826229 32826229 C T rs188509047 ZNF397 Synonymous SNV H520H 0.001 0 0 0 1 0 0 0 0 0 0 0 6.944 331159 chr6 132649639 132649639 G A rs779471053 MOXD1 Nonsynonymous SNV S253F 0 0 0 1 0 0 0.003 0 0 0 0 0 0.585 331160 chr1 17555220 17555220 G A rs766075940 PADI1 Synonymous SNV V251V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.588 331161 chr6 136710603 136710603 G A rs752504366 MAP7 Synonymous SNV Y121Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.385 331162 chr6 139610012 139610012 G C rs141718702 TXLNB Nonsynonymous SNV L9V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.757 331163 chr21 42539531 42539531 C T MIR3197 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 331164 chr1 173517671 173517671 G A SLC9C2 Nonsynonymous SNV P440S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 331165 chr21 43248533 43248533 C T rs756592474 PRDM15 Nonsynonymous SNV R545Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 331166 chr21 43836715 43836715 T A rs147725336 UBASH3A Nonsynonymous SNV Y240N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 331167 chr1 177905484 177905484 A C rs779096821 CRYZL2P-SEC16B, SEC16B Synonymous SNV S499S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.839 331168 chr18 60052155 60052155 C G rs564197502 TNFRSF11A Nonsynonymous SNV S263C 0.002 0 0 0 2 0 0 0 0 0 0 0 28 331169 chr15 100591922 100591922 G A rs146428081 ADAMTS17 Synonymous SNV H770H 0 0.003 0 0 0 1 0 0 0 0 0 0 1.043 331170 chr15 23086389 23086391 GCT - rs769916931 NIPA1 A16del 0 0.003 0 0 0 1 0 0 0 0 0 0 331171 chr6 170594383 170594383 C T rs139656180 DLL1 Nonsynonymous SNV E331K 0 0 0 1 0 0 0.003 0 0 0 0 0 28 331172 chr1 19494605 19494605 G A rs140190640 UBR4 Nonsynonymous SNV T1272I 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 24.3 331173 chr18 72998699 72998699 C A TSHZ1 Nonsynonymous SNV T446N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.014 331174 chr7 2583589 2583589 G A rs1045444980 BRAT1 Synonymous SNV V146V 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 4.902 331175 chr1 20009837 20009837 G C rs116650784 TMCO4 Nonsynonymous SNV A534G 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 331176 chr22 24563002 24563002 G A CABIN1 Synonymous SNV E1751E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.771 331177 chr17 80280241 80280243 CTT - rs753825314 SECTM1 K181del 0 0.003 0 0 0 1 0 0 0 0 0 0 331178 chr22 30856050 30856050 G A rs116181219 SEC14L3 Synonymous SNV D387D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.116 331179 chr7 30642651 30642651 A T rs760133861 GARS1 Nonsynonymous SNV T137S 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 331180 chr1 21050199 21050199 C G SH2D5 Synonymous SNV R192R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.32 331181 chr22 41620785 41620785 G A rs141102760 L3MBTL2 Nonsynonymous SNV V411I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 331182 chr22 50187749 50187749 G A rs371554265 BRD1 Synonymous SNV P759P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.107 331183 chr22 50192299 50192299 C G rs371012698 BRD1 Synonymous SNV L564L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.826 331184 chr7 64864260 64864260 C G rs757244925 ZNF92 Synonymous SNV T335T 0 0 0 1 0 0 0.003 0 0 0 0 0 10.06 331185 chr7 65617235 65617235 T C rs147087119 CRCP Nonsynonymous SNV I36T 0 0 0 1 0 0 0.003 0 0 0 0 0 26.2 331186 chr2 102014150 102014150 T G RFX8 Nonsynonymous SNV S257R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 331187 chr7 76909892 76909892 A G rs763588328 CCDC146 Nonsynonymous SNV N614S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.109 331188 chr1 228602575 228602575 C G TRIM17 Nonsynonymous SNV E67Q 0.002 0 0 0 2 0 0 0 0 0 0 0 20.6 331189 chr19 43983666 43983666 G A rs139745869 PHLDB3 Nonsynonymous SNV P522L 0.001 0.003 0 0 1 1 0 0 0 0 0 0 12.19 331190 chr2 110325516 110325516 A G rs756892026 SEPTIN10 Nonsynonymous SNV V23A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 331191 chr1 233464453 233464453 C G MAP3K21 Nonsynonymous SNV R227G 0.001 0 0 0 1 0 0 0 0 0 0 0 26.1 331192 chr7 97833422 97833422 C A LMTK2 Synonymous SNV S1469S 0 0 0 1 0 0 0.003 0 0 0 0 0 15.02 331193 chr7 98995618 98995618 C G PDAP1 Nonsynonymous SNV Q118H 0 0 0 1 0 0 0.003 0 0 0 0 0 27.3 331194 chr7 98997937 98997937 C T rs138561876 PDAP1 Synonymous SNV S108S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.4 331195 chr7 99219111 99219111 G C rs749364084 ZSCAN25 Nonsynonymous SNV G168A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.162 331196 chr19 35500210 35500210 C T rs1006427325 GRAMD1A Nonsynonymous SNV R66W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 331197 chr19 35655081 35655081 G A rs775766253 FXYD5 Synonymous SNV T74T 0.001 0 0 0 1 0 0 0 0 0 0 0 9.034 331198 chr15 91185351 91185351 G A rs766551946 CRTC3 Synonymous SNV T612T 0 0.003 0 0 0 1 0 0 0 0 0 0 13.94 331199 chr15 91483593 91483593 C T rs200681427 UNC45A Nonsynonymous SNV R48W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 331200 chr2 160005761 160005761 T C rs756835094 TANC1 Nonsynonymous SNV I123T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.57 331201 chr19 47725125 47725125 G T BBC3 Stop gain Y110X 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 331202 chr2 162280342 162280342 G T rs772152573 TBR1 Synonymous SNV P551P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 331203 chr16 12009375 12009375 T C rs768383165 GSPT1 Nonsynonymous SNV Q68R 0 0.003 0 0 0 1 0 0 0 0 0 0 1.543 331204 chr2 170460593 170460593 T C rs146657630 PPIG Synonymous SNV I14I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.301 331205 chr2 170735045 170735045 C T rs376035332 UBR3 Synonymous SNV G333G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.07 331206 chr1 32557612 32557612 G T TMEM39B Nonsynonymous SNV K110N 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 331207 chr19 1800028 1800028 T G ATP8B3 Nonsynonymous SNV E443D 0 0.003 0 0 0 1 0 0 0 0 0 0 8.852 331208 chr2 187466841 187466841 T C rs765571754 ITGAV Synonymous SNV S47S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 331209 chr2 187506216 187506216 G A rs746278749 ITGAV Nonsynonymous SNV G318R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 331210 chr7 139829354 139829354 A G KDM7A Synonymous SNV D166D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.016 331211 chr19 2418035 2418035 G C rs768178345 TMPRSS9 Nonsynonymous SNV G651R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.4 331212 chr2 21260868 21260868 G A rs139842930 APOB Nonsynonymous SNV P167S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 26.2 331213 chr2 218679675 218679675 A G rs202050010 TNS1 Synonymous SNV T1438T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.958 331214 chr16 4780145 4780145 G A rs145030609 ANKS3 Synonymous SNV S2S 0 0.003 0 0 0 1 0 0 0 0 0 0 7.845 331215 chr16 48595308 48595308 T C N4BP1 Nonsynonymous SNV S416G 0 0.003 0 0 0 1 0 0 0 0 0 0 0.009 331216 chr7 150864247 150864261 GCGGCGGCGGCGGCA - rs767743298 GBX1 A126_A130del 0 0 0 1 0 0 0.003 0 0 0 0 0 331217 chr16 50100161 50100161 C T rs142043637 HEATR3 Nonsynonymous SNV A40V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 331218 chr2 220419274 220419274 C T OBSL1 Nonsynonymous SNV G1600S 0 0 0.003 0 0 0 0 1 0 0 0 0 11 331219 chr16 5056035 5056035 G C SEC14L5 Nonsynonymous SNV G475R 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 331220 chr16 55527178 55527178 G A rs758315277 MMP2 Nonsynonymous SNV R432H 0.001 0.003 0 0 1 1 0 0 0 0 0 0 31 331221 chr2 230411669 230411669 C T rs148648697 DNER Synonymous SNV P329P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 331222 chr2 230875491 230875491 C T rs200898703 FBXO36 Nonsynonymous SNV A153V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 331223 chr2 231331884 231331884 C T rs138047298 SP100 Synonymous SNV P390P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 331224 chr19 38014347 38014347 C G ZNF793 Nonsynonymous SNV I2M 0 0.003 0 0 0 1 0 0 0 0 0 0 11.13 331225 chr16 58043902 58043902 G A rs142683238 USB1 Nonsynonymous SNV R112Q 0.001 0.003 0 0 1 1 0 0 0 0 0 0 18.04 331226 chr16 58079043 58079043 G C MMP15 Nonsynonymous SNV R568P 0.001 0.003 0 0 1 1 0 0 0 0 0 0 24 331227 chr1 63881575 63881575 G T ALG6 Nonsynonymous SNV A312S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.464 331228 chr19 40520124 40520124 T G ZNF546 Nonsynonymous SNV L290R 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 331229 chr2 25384596 25384596 T C rs28932470 POMC Nonsynonymous SNV D53G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.35 331230 chr8 30701750 30701750 G A rs776182922 TEX15 Nonsynonymous SNV A1978V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.7 331231 chr8 36671790 36671790 A G rs761405051 KCNU1 Synonymous SNV S266S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.091 331232 chr8 56864577 56864577 T C LYN Synonymous SNV I159I 0 0 0 1 0 0 0.003 0 0 0 0 0 9.408 331233 chr8 59404079 59404079 C A CYP7A1 Synonymous SNV P490P 0 0 0 1 0 0 0.003 0 0 0 0 0 15.1 331234 chr20 16409630 16409630 C T rs144621795 KIF16B Nonsynonymous SNV G481D 0.001 0 0 0 1 0 0 0 0 0 0 0 34 331235 chr8 77761862 77761862 G A rs377405364 ZFHX4 Nonsynonymous SNV V1254I 0 0 0 1 0 0 0.003 0 0 0 0 0 22.1 331236 chr8 77763429 77763429 G A rs199795783 ZFHX4 Synonymous SNV A1424A 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 9.191 331237 chr2 67631830 67631830 C T rs781349954 ETAA1 Synonymous SNV S672S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 331238 chr2 70188368 70188368 A G rs200484241 ASPRV1 Synonymous SNV N151N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 331239 chr19 48789111 48789111 C T rs867317781 ZNF114 Nonsynonymous SNV T77M 0 0.003 0 0 0 1 0 0 0 0 0 0 4.493 331240 chr20 25269077 25269077 G A rs201553690 PYGB Synonymous SNV P595P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.96 331241 chr20 32247306 32247306 G A rs762952840 NECAB3 Synonymous SNV D292D 0 0.003 0 0 0 1 0 0 0 0 0 0 1.281 331242 chr16 89346890 89346898 GGCGGGAGG - rs775221712 ANKRD11 P2018_A2020del 0 0.003 0 0 0 1 0 0 0 0 0 0 331243 chr2 74642723 74642723 A G C2orf81 Nonsynonymous SNV I99T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.614 331244 chr8 110499050 110499050 G A PKHD1L1 Nonsynonymous SNV G3294R 0 0 0 1 0 0 0.003 0 0 0 0 0 28.2 331245 chr2 75105944 75105944 A G rs138547217 HK2 Synonymous SNV A387A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 331246 chr2 75186509 75186509 C T rs144200621 POLE4 Synonymous SNV C85C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 331247 chr20 3870335 3870335 C G rs746054643 PANK2 Synonymous SNV V196V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.666 331248 chr20 33680531 33680531 C T rs750384665 TRPC4AP Synonymous SNV S18S 0.002 0 0 0 2 0 0 0 0 0 0 0 17.49 331249 chr20 3571823 3571823 A G rs141329956 ATRN Synonymous SNV Q948Q 0.001 0 0 0 1 0 0 0 0 0 0 0 6.538 331250 chr17 11642297 11642297 T C rs748529993 DNAH9 Nonsynonymous SNV M1972T 0 0.003 0 0 0 1 0 0 0 0 0 0 26.3 331251 chr8 123965687 123965687 C T rs201034843 ZHX2 Nonsynonymous SNV T646M 0 0 0 1 0 0 0.003 0 0 0 0 0 24 331252 chr20 36952392 36952392 G A BPI Nonsynonymous SNV A293T 0.002 0 0 0 2 0 0 0 0 0 0 0 25.2 331253 chr3 100961725 100961725 G A IMPG2 Synonymous SNV L943L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.72 331254 chr3 101431972 101431972 A T PDCL3P4 0 0 0.003 0 0 0 0 1 0 0 0 0 0.437 331255 chr8 142176485 142176485 G A rs745848848 DENND3 Nonsynonymous SNV A584T 0 0 0 1 0 0 0.003 0 0 0 0 0 0.002 331256 chr20 57768828 57768828 G A rs775709778 ZNF831 Synonymous SNV S918S 0.001 0 0 0 1 0 0 0 0 0 0 0 4.233 331257 chr8 144654796 144654796 G A MROH6 Nonsynonymous SNV A30V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.62 331258 chr8 144991208 144991208 C T rs200924154 PLEC Nonsynonymous SNV A4247T 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.76 331259 chr20 60891820 60891820 G A rs780741318 LAMA5 Nonsynonymous SNV R2555W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 331260 chr8 145577171 145577171 C A TMEM249 Nonsynonymous SNV G182V 0 0 0 1 0 0 0.003 0 0 0 0 0 31 331261 chr8 145738605 145738605 G A RECQL4 Nonsynonymous SNV P820L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.1 331262 chr3 127339703 127339703 G A rs140928153 MCM2 Nonsynonymous SNV V810I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 331263 chr1 109823723 109823723 C T rs566855388 PSRC1 Nonsynonymous SNV G224R 0.002 0 0 0 2 0 0 0 0 0 0 0 11.76 331264 chr3 128664193 128664193 C T rs775891329 KIAA1257 Nonsynonymous SNV R369H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 331265 chr3 132360876 132360876 C T rs768834967 ACAD11 Synonymous SNV L159L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 331266 chr1 112042746 112042746 C A ADORA3 Nonsynonymous SNV Q261H 0.002 0 0 0 2 0 0 0 0 0 0 0 0.764 331267 chr17 36617167 36617167 C T rs748579886 ARHGAP23 Nonsynonymous SNV R82C 0 0.003 0 0 0 1 0 0 0 0 0 0 35 331268 chr3 137805817 137805817 C T DZIP1L Nonsynonymous SNV A350T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 331269 chr3 142238561 142238561 C T ATR Synonymous SNV R1380R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 331270 chr3 148880562 148880562 T C rs144099522 HPS3 Nonsynonymous SNV V628A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.66 331271 chr9 37740420 37740420 C T rs368931368 FRMPD1 Nonsynonymous SNV S632L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.22 331272 chr9 72741297 72741297 C T rs147526021 MAMDC2 Nonsynonymous SNV A289V 0 0 0 1 0 0 0.003 0 0 0 0 0 16.23 331273 chr3 151166050 151166050 G A rs193019990 IGSF10 Synonymous SNV V573V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.352 331274 chr21 40636597 40636597 C T BRWD1 Nonsynonymous SNV M558I 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 331275 chr1 149858907 149858907 G C rs781935199 H2AC20 Nonsynonymous SNV S128T 0.002 0 0 0 2 0 0 0 0 0 0 0 9.373 331276 chr3 183273327 183273327 C A rs757528310 KLHL6 Nonsynonymous SNV V39F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 331277 chr1 152275474 152275474 G A rs750139387 FLG Nonsynonymous SNV T3963I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.008 331278 chr21 47845817 47845817 G A rs201389292 PCNT Nonsynonymous SNV G2300S 0 0.003 0 0 0 1 0 0 0 0 0 0 13.07 331279 chr9 101546379 101546379 T C rs368427707 ANKS6 Nonsynonymous SNV N323S 0 0 0 1 0 0 0.003 0 0 0 0 0 13.65 331280 chr3 186961357 186961357 A G rs141985299 MASP1 Synonymous SNV S381S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.018 331281 chr9 117071735 117071735 G A rs758079877 COL27A1 Nonsynonymous SNV E1805K 0 0 0 1 0 0 0.003 0 0 0 0 0 23.5 331282 chr17 48764898 48764898 G A rs532140025 ABCC3 Nonsynonymous SNV V1428M 0 0.003 0 0 0 1 0 0 0 0 0 0 28.8 331283 chr3 38167743 38167743 C T rs143272357 ACAA1 Nonsynonymous SNV V303I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.56 331284 chr3 38748778 38748778 G A rs148619598 SCN10A Nonsynonymous SNV R1362W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 33 331285 chr9 131022776 131022776 G C rs74686374 GOLGA2 Nonsynonymous SNV L537V 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 24.9 331286 chr1 109607263 109607263 A G rs183456650 TAF13 Nonsynonymous SNV I86T 0 0.003 0 0 0 1 0 0 0 0 0 0 24.1 331287 chr22 31534744 31534744 G A PLA2G3 Nonsynonymous SNV R186C 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 331288 chr22 36684396 36684396 G A MYH9 Nonsynonymous SNV R1612W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 331289 chr22 38087290 38087290 A G rs150551446 NOL12 Nonsynonymous SNV S197G 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 331290 chr3 51980282 51980282 G A PARP3 Nonsynonymous SNV R407H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 331291 chr3 52090137 52090137 G A rs772134273 DUSP7 Synonymous SNV L82L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.65 331292 chr9 135447871 135447871 C A rs374754745 CFAP77 Synonymous SNV R277R 0 0 0 1 0 0 0.003 0 0 0 0 0 19.83 331293 chr9 136211009 136211009 G C MED22 Stop gain Y128X 0 0 0 1 0 0 0.003 0 0 0 0 0 34 331294 chr1 11828223 11828223 G A rs755426326 C1orf167 Nonsynonymous SNV R478H 0 0.003 0 0 0 1 0 0 0 0 0 0 13.77 331295 chr3 57494171 57494171 C T DNAH12 Nonsynonymous SNV M213I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.559 331296 chr3 58156440 58156440 G T rs144321868 FLNB Nonsynonymous SNV W2563L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 331297 chr1 182369112 182369112 C G TEDDM1 Nonsynonymous SNV W170S 0.002 0 0 0 2 0 0 0 0 0 0 0 29.2 331298 chr1 183090897 183090897 G A rs777864522 LAMC1 Nonsynonymous SNV R677H 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 331299 chr3 73437162 73437162 T C PDZRN3 Nonsynonymous SNV E190G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 331300 chr1 197070322 197070322 T C rs773567404 ASPM Nonsynonymous SNV N2687D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 331301 chr22 47033802 47033802 A G GRAMD4 Synonymous SNV R102R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.815 331302 chr4 105412469 105412469 C A rs563428404 CXXC4 Nonsynonymous SNV G164V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 331303 chr10 6262630 6262630 G T rs145567510 PFKFB3 Synonymous SNV S191S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.61 331304 chr10 21805485 21805499 CCTCCTCCTCCTCTC - rs748483426 SKIDA1 G418_E422del 0 0 0 1 0 0 0.003 0 0 0 0 0 331305 chr17 8044425 8044425 G A rs78714615 PER1 Synonymous SNV S1278S 0 0.003 0 0 0 1 0 0 0 0 0 0 2.774 331306 chr10 46999777 46999777 C T rs142429365 GPRIN2 Synonymous SNV P299P 0 0 0 1 0 0 0.003 0 0 0 0 0 8.059 331307 chr2 170344563 170344563 A G rs758307712 BBS5 Nonsynonymous SNV I109V 0 0.003 0 0 0 1 0 0 0 0 0 0 23.4 331308 chr10 49447648 49447648 C T rs768263075 FRMPD2 Nonsynonymous SNV R239H 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 331309 chr2 171092551 171092551 C A rs374030259 MYO3B Nonsynonymous SNV D218E 0 0.003 0 0 0 1 0 0 0 0 0 0 32 331310 chr18 28991401 28991401 A G rs367701012 DSG4 Nonsynonymous SNV Y801C 0 0.003 0 0 0 1 0 0 0 0 0 0 25.4 331311 chr10 62671267 62671267 C T rs762038663 RHOBTB1 Nonsynonymous SNV V12I 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 331312 chr4 2906509 2906509 C T ADD1 Nonsynonymous SNV P394S 0 0 0.003 0 0 0 0 1 0 0 0 0 24 331313 chr2 175436417 175436417 C T rs138920689 WIPF1 Synonymous SNV P372P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.99 331314 chr2 179397943 179397943 C T TTN Nonsynonymous SNV E25402K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 331315 chr4 38990555 38990555 A C TMEM156 Nonsynonymous SNV L219V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 331316 chr2 1947000 1947000 C T rs539770858 MYT1L Nonsynonymous SNV V87M 0 0.003 0 0 0 1 0 0 0 0 0 0 9.471 331317 chr4 437714 437714 G - ZNF721 T181Mfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 331318 chr4 651212 651212 C T rs189094454 PDE6B Nonsynonymous SNV R59C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.1 331319 chr10 101578925 101578925 T C ABCC2 Nonsynonymous SNV V840A 0 0 0 1 0 0 0.003 0 0 0 0 0 12.03 331320 chr10 103892966 103892966 C T rs773362045 PPRC1 Synonymous SNV S47S 0 0 0 1 0 0 0.003 0 0 0 0 0 19.05 331321 chr4 79291128 79291128 C T rs766780361 FRAS1 Synonymous SNV N953N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 331322 chr10 115489187 115489187 A C rs61755278 CASP7 Nonsynonymous SNV D242A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.378 331323 chr10 116057014 116057014 C A rs779716466 AFAP1L2 Nonsynonymous SNV V675L 0 0 0 1 0 0 0.003 0 0 0 0 0 23.3 331324 chr10 117856200 117856200 G A GFRA1 Synonymous SNV Y161Y 0 0 0 1 0 0 0.003 0 0 0 0 0 9.97 331325 chr10 119100522 119100522 G A rs781676463 PDZD8 Nonsynonymous SNV R322C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 331326 chr2 219029085 219029085 C T rs147510072 CXCR1 Nonsynonymous SNV G284S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.59 331327 chr1 32936700 32936700 G A rs200136968 ZBTB8B Nonsynonymous SNV E159K 0.001 0 0 0 1 0 0 0 0 0 0 0 18.04 331328 chr1 33256799 33256799 T C YARS1 Synonymous SNV P216P 0.002 0 0 0 2 0 0 0 0 0 0 0 10.24 331329 chr2 220338461 220338461 C A SPEG Nonsynonymous SNV A1428D 0.001 0 0 0 1 0 0 0 0 0 0 0 32 331330 chr5 112178759 112178759 G A rs538230198 APC Nonsynonymous SNV D2472N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 331331 chr2 24080308 24080308 A G ATAD2B Synonymous SNV S515S 0 0.003 0 0 0 1 0 0 0 0 0 0 8.844 331332 chr5 131598417 131598417 A G rs747420276 PDLIM4 Nonsynonymous SNV K70R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 331333 chr5 135469443 135469443 A G rs943482092 SMAD5-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.23 331334 chr11 400538 400538 G T rs950509506 PKP3 Nonsynonymous SNV V524L 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 331335 chr5 137342744 137342744 C A rs748780524 FAM13B Nonsynonymous SNV M143I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 331336 chr5 138614605 138614605 G A rs746887017 SNORA74A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 331337 chr11 621346 621346 C T rs200871976 CDHR5 Nonsynonymous SNV R206Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21 331338 chr5 140725108 140725108 C T PCDHGA3 Nonsynonymous SNV S503F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 331339 chr2 27259411 27259411 G A rs373399899 TMEM214 Nonsynonymous SNV M214I 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 331340 chr11 1017574 1017574 C T rs202040290 MUC6 Nonsynonymous SNV A1743T 0 0 0 1 0 0 0.003 0 0 0 0 0 6.775 331341 chr5 140812739 140812739 G C rs147848043 PCDHGA12 Nonsynonymous SNV G805R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.958 331342 chr2 3391836 3391836 G C rs754188527 TRAPPC12 Nonsynonymous SNV E148Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.06 331343 chr11 1020208 1020208 G A rs28497432 MUC6 Synonymous SNV I1230I 0 0 0 1 0 0 0.003 0 0 0 0 0 8.326 331344 chr11 1026093 1026093 T C rs116044918 MUC6 Synonymous SNV P865P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.198 331345 chr11 1103825 1103825 G C rs370288963 MUC2 Nonsynonymous SNV E2708D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.57 331346 chr11 1255486 1255486 C A rs190624357 MUC5B Nonsynonymous SNV T810N 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign/Likely benign 0.322 331347 chr11 1272173 1272173 C T rs185816733 MUC5B Nonsynonymous SNV T4688M 0 0 0 2 0 0 0.005 0 0 0 0 1 8.467 331348 chr5 150668025 150668025 A G rs770817238 SLC36A3 Synonymous SNV T137T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.117 331349 chr2 48698446 48698446 C T PPP1R21 Nonsynonymous SNV S343L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 331350 chr5 157171064 157171064 G A LSM11 Synonymous SNV A102A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 331351 chr1 8420708 8420708 C A RERE Synonymous SNV G399G 0.002 0 0 0 2 0 0 0 0 0 0 0 5.402 331352 chr11 4842844 4842844 C G rs377036892 OR51F2 Nonsynonymous SNV L65V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 331353 chr2 43937374 43937374 T C rs747278419 PLEKHH2 Nonsynonymous SNV S707P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 331354 chr5 172661863 172661863 C T NKX2-5 Nonsynonymous SNV R75H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 331355 chr5 172750319 172750319 G A STC2 Nonsynonymous SNV R137W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 331356 chr2 55529160 55529160 C T CCDC88A Nonsynonymous SNV G1479D 0.002 0 0 0 2 0 0 0 0 0 0 0 27.6 331357 chr5 180687022 180687022 C T rs200981187 TRIM52 Nonsynonymous SNV E265K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 331358 chr2 74043089 74043089 G C C2orf78 Nonsynonymous SNV S580T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.258 331359 chr1 33583504 33583504 A C rs202005453 AZIN2 Nonsynonymous SNV K249T 0 0.003 0 0 0 1 0 0 0 0 0 0 19.41 331360 chr5 52360892 52360892 G A rs142105457 ITGA2 Nonsynonymous SNV A585T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 331361 chr5 52942061 52942061 A G NDUFS4 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 24.6 331362 chr5 68404181 68404181 T C rs768252209 SLC30A5 Nonsynonymous SNV L122S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 331363 chr3 112357771 112357771 C T rs200258226 CCDC80 Nonsynonymous SNV V328M 0.002 0 0 0 2 0 0 0 0 0 0 0 22.8 331364 chr3 112647875 112647875 C A rs200448544 CD200R1 Nonsynonymous SNV R163I 0.002 0 0 0 2 0 0 0 0 0 0 0 12.91 331365 chr5 76745633 76745633 G A rs757653011 WDR41 Nonsynonymous SNV R217C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 331366 chr3 126722305 126722305 G A rs138997671 PLXNA1 Nonsynonymous SNV E504K 0 0.003 0 0 0 1 0 0 0 0 0 0 23.8 331367 chr5 93856487 93856487 G C rs753610670 KIAA0825 Nonsynonymous SNV L146V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 331368 chr11 46389589 46389589 A T DGKZ Nonsynonymous SNV K135M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.9 331369 chr6 100061759 100061759 A G PRDM13 Synonymous SNV P416P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 331370 chr6 101296482 101296482 T C rs765546342 ASCC3 Nonsynonymous SNV I115V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 331371 chr3 140401726 140401726 G C rs146006015 TRIM42 Nonsynonymous SNV R255P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 331372 chr6 131190924 131190924 C T rs200766051 EPB41L2 Nonsynonymous SNV E324K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 331373 chr3 15613212 15613213 AG - rs759468714 HACL1 L271Efs*8 0.001 0 0 0 1 0 0 0 0 0 0 0 331374 chr6 138753670 138753670 G A rs780451660 NHSL1 Synonymous SNV H608H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.539 331375 chr21 43176882 43176882 C T rs372343704 RIPK4 Nonsynonymous SNV G93S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.5 331376 chr21 44589259 44589259 T C rs148704068 CRYAA, CRYAA2 Nonsynonymous SNV F17S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.95 331377 chr3 194062824 194062824 T C rs760221022 CPN2 Nonsynonymous SNV N203S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 331378 chr3 186505162 186505162 C T rs764700631 SNORA63 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 331379 chr3 196159106 196159106 G C UBXN7-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 4.515 331380 chr6 170871055 170871079 GCAGCAGCAGCAGCAGCAGCAGCAG - TBP Q57Hfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 331381 chr6 17616892 17616892 A C rs747419051 NUP153 Nonsynonymous SNV N1361K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 331382 chr19 58117148 58117148 A G rs938603191 ZNF530 Synonymous SNV T85T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.252 331383 chr11 64120581 64120581 C T rs758214824 CCDC88B Nonsynonymous SNV R1186C 0 0 0 1 0 0 0.003 0 0 0 0 0 33 331384 chr11 64137010 64137010 C T rs369856588 RPS6KA4 Synonymous SNV S501S 0 0 0 1 0 0 0.003 0 0 0 0 0 9.19 331385 chr11 64416368 64416368 T C rs372887399 NRXN2 Nonsynonymous SNV I1001V 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 331386 chr6 35544777 35544777 A G rs768872131 FKBP5 Synonymous SNV D420D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.99 331387 chr6 41562714 41562714 C T rs767633870 FOXP4 Nonsynonymous SNV P548L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 331388 chr6 42930887 42930887 C A rs121907889 CNPY3-GNMT, GNMT Nonsynonymous SNV H116N 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 28.8 331389 chr19 8969277 8969277 G A rs191810418 MUC16 Nonsynonymous SNV A14356V 0 0.003 0 0 0 1 0 0 0 0 0 0 22.9 331390 chr6 43251327 43251327 G A rs377730883 TTBK1 Nonsynonymous SNV R950Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 331391 chr11 76371764 76371764 G A rs373298471 LRRC32 Synonymous SNV H181H 0 0 0 1 0 0 0.003 0 0 0 0 0 0.015 331392 chr22 44004421 44004421 G A rs769032094 EFCAB6 Synonymous SNV N722N 0.002 0 0 0 2 0 0 0 0 0 0 0 3.276 331393 chr6 56483774 56483774 C T rs143594621 DST Synonymous SNV A1686A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.002 331394 chr22 46932412 46932412 G A rs113410471 CELSR1 Nonsynonymous SNV P219L 0.002 0 0 0 2 0 0 0 0 0 0 0 10.21 331395 chr22 50657029 50657029 A G TUBGCP6 Synonymous SNV I1614I 0.002 0 0 0 2 0 0 0 0 0 0 0 0.032 331396 chr6 76344475 76344475 C T rs767018357 SENP6 Nonsynonymous SNV R136C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 331397 chr6 83075918 83075918 C G rs201341248 TPBG Nonsynonymous SNV L414V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 331398 chr22 50869644 50869644 C T PPP6R2 Stop gain Q390X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 331399 chr22 50945091 50945091 C T LMF2 Nonsynonymous SNV G93D 0.002 0 0 0 2 0 0 0 0 0 0 0 29.6 331400 chr11 108712202 108712202 G A rs188412255 DDX10 Nonsynonymous SNV R749Q 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 331401 chr11 118404138 118404138 T C rs370298126 TMEM25 Nonsynonymous SNV L129P 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 331402 chr11 119181538 119181538 A C rs1008074269 MCAM Nonsynonymous SNV V574G 0 0 0 1 0 0 0.003 0 0 0 0 0 25.1 331403 chr4 126373601 126373601 A G FAT4 Synonymous SNV P3812P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.891 331404 chr4 114275289 114275289 A C rs763795429 ANK2 Nonsynonymous SNV T1839P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.046 331405 chr7 100853720 100853720 G A rs267601206 PLOD3 Synonymous SNV I502I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 331406 chr4 140640714 140640714 C T rs372589434 MAML3 Synonymous SNV A1060A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.5 331407 chr4 126237639 126237639 C T rs755869340 FAT4 Nonsynonymous SNV L25F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 331408 chr7 106545585 106545585 G C rs376453517 PIK3CG Nonsynonymous SNV R1021P 0 0 0.003 0 0 0 0 1 0 0 0 0 34 331409 chr7 116838578 116838578 C T rs138798329 ST7-OT3 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 331410 chr7 123143105 123143105 C A rs77768391 IQUB Nonsynonymous SNV G254C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 331411 chr11 130275579 130275579 G A rs776676907 ADAMTS8 Synonymous SNV C848C 0 0 0 1 0 0 0.003 0 0 0 0 0 1.957 331412 chr7 12375837 12375837 G A rs753994694 VWDE Synonymous SNV N1413N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.108 331413 chr11 134127030 134127030 G A rs747139706 ACAD8 Nonsynonymous SNV G87R 0 0 0 1 0 0 0.003 0 0 0 0 0 29.4 331414 chr7 130347837 130347837 A G rs367929074 COPG2 Synonymous SNV F71F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 331415 chr12 980493 980493 A G rs775612725 WNK1 Synonymous SNV Q734Q 0 0 0 1 0 0 0.003 0 0 0 0 0 12.97 331416 chr12 2937169 2937169 G A rs757834706 NRIP2 Nonsynonymous SNV P208L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.046 331417 chr12 4708299 4708299 G A rs138577409 DYRK4 Synonymous SNV S222S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.26 331418 chr12 5154318 5154318 C T KCNA5 Synonymous SNV F335F 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.382 331419 chr12 7295764 7295764 C T rs143198009 CLSTN3 Synonymous SNV H568H 0 0 0 1 0 0 0.003 0 0 0 0 0 13 331420 chr4 3076603 3076603 - CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG HTT Q38_P39insQQQQQQQQQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 331421 chr4 2927748 2927748 G A rs780154799 ADD1 Synonymous SNV L590L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.65 331422 chr12 9346694 9346694 C T rs776571938 PZP Synonymous SNV S411S 0 0 0 1 0 0 0.003 0 0 0 0 0 12.49 331423 chr7 148709410 148709410 G A rs148817386 PDIA4 Nonsynonymous SNV P224L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 331424 chr7 149171923 149171928 CCGCCG - rs778452903 ZNF746 G498_G499del 0 0 0.003 0 0 0 0 1 0 0 0 0 331425 chr12 12871122 12871122 C T rs754936421 CDKN1B Nonsynonymous SNV P117S 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 11.71 331426 chr4 52757928 52757928 A C rs201922365 DCUN1D4 Synonymous SNV V139V 0 0.003 0 0 0 1 0 0 0 0 0 0 12.82 331427 chr12 20766418 20766418 C T rs138884714 PDE3A Synonymous SNV G29G 0 0 0 1 0 0 0.003 0 0 0 0 0 17.82 331428 chr4 52895058 52895058 G A SGCB Synonymous SNV L153L 0.002 0 0 0 2 0 0 0 0 0 0 0 11.19 331429 chr2 211069378 211069378 A G rs781181180 ACADL Nonsynonymous SNV I266T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 331430 chr12 50357924 50357924 C T rs117761535 AQP5 Nonsynonymous SNV A193V 0 0 0 1 0 0 0.003 0 0 0 0 0 24.8 331431 chr12 50358920 50358920 G A rs200088878 AQP5 Nonsynonymous SNV R253Q 0 0 0.003 1 0 0 0.003 1 0 0 0 0 12.57 331432 chr12 50744149 50744149 G A rs192451858 FAM186A Nonsynonymous SNV R2156C 0 0 0.003 1 0 0 0.003 1 0 0 0 0 32 331433 chr1 19559525 19559525 G A rs969642659 EMC1 Nonsynonymous SNV R491W 0 0.003 0 0 0 1 0 0 0 0 0 0 35 331434 chr12 52963643 52963643 C T rs201452345 KRT74 Synonymous SNV Q378Q 0 0 0 1 0 0 0.003 0 0 0 0 0 13.59 331435 chr12 53184013 53184013 C - KRT3 G567Efs*140 0 0 0 1 0 0 0.003 0 0 0 0 0 331436 chr1 203148620 203148620 G C rs201313181 CHI3L1 Nonsynonymous SNV R369G 0 0.003 0 0 0 1 0 0 0 0 0 0 14.37 331437 chr5 112103032 112103032 T A APC Nonsynonymous SNV F133I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 18.57 331438 chr7 803541 803541 C T DNAAF5 Synonymous SNV T571T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 331439 chr7 82585803 82585803 G C rs114445550 PCLO Nonsynonymous SNV S1489C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.071 331440 chr7 82997081 82997081 T C rs61729610 SEMA3E Nonsynonymous SNV I657V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.4 331441 chr1 205632575 205632575 G A rs762283059 SLC45A3 Nonsynonymous SNV P115L 0 0.003 0 0 0 1 0 0 0 0 0 0 13.18 331442 chr12 55945184 55945184 T A rs938649017 OR6C4 Stop gain Y58X 0 0 0 1 0 0 0.003 0 0 0 0 0 36 331443 chr12 56817159 56817159 G A rs770377436 TIMELESS Nonsynonymous SNV R730W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 331444 chr12 57323262 57323262 C G rs775800915 SDR9C7 Nonsynonymous SNV K212N 0 0 0 1 0 0 0.003 0 0 0 0 0 10.31 331445 chr7 92760608 92760608 A G SAMD9L Synonymous SNV G1559G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.48 331446 chr12 57919368 57919368 G A MBD6 Nonsynonymous SNV R206K 0 0 0 1 0 0 0.003 0 0 0 0 0 7.281 331447 chr12 57957262 57957262 C T rs759785671 KIF5A Nonsynonymous SNV T57M 0 0 0 1 0 0 0.003 0 0 0 0 0 33 331448 chr7 99710500 99710500 C T TAF6 Synonymous SNV L202L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 331449 chr2 241810777 241810777 G A AGXT Synonymous SNV Q145Q 0.002 0 0 0 2 0 0 0 0 0 0 0 8.558 331450 chr2 241810778 241810778 C A AGXT Nonsynonymous SNV H146N 0.002 0 0 0 2 0 0 0 0 0 0 0 22.4 331451 chr8 109094836 109094836 T C rs148112629 RSPO2 Nonsynonymous SNV I11V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 331452 chr8 110461685 110461685 A - PKHD1L1 T2049Hfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 331453 chr8 11666241 11666241 A - FDFT1 H72Pfs*28 0 0 0.003 0 0 0 0 1 0 0 0 0 331454 chr8 11666243 11666247 TCCCA - FDFT1 S73Lfs*70 0 0 0.003 0 0 0 0 1 0 0 0 0 331455 chr8 11851513 11851513 A G rs76653584 DEFB134 Synonymous SNV C59C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 331456 chr12 81007576 81007576 G T rs556008452 PTPRQ Nonsynonymous SNV M1536I 0 0 0 1 0 0 0.003 0 0 0 0 0 11.12 331457 chr12 81007577 81007577 C G rs574325862 PTPRQ Nonsynonymous SNV L1537V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.452 331458 chr2 26697387 26697387 C T OTOF Synonymous SNV L404L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.52 331459 chr12 96389595 96389595 C A rs150051467 HAL Nonsynonymous SNV V32L 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 3.165 331460 chr8 128099337 128099337 G A PRNCR1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.429 331461 chr12 105509497 105509497 A G rs775081464 WASHC4 Synonymous SNV S142S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.72 331462 chr12 107168575 107168575 A G RIC8B Nonsynonymous SNV I18V 0 0 0 1 0 0 0.003 0 0 0 0 0 4.025 331463 chr12 109527884 109527884 C G ALKBH2 Nonsynonymous SNV V137L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.69 331464 chr2 44059097 44059097 A G rs774845445 ABCG5 Nonsynonymous SNV Y131H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 331465 chr2 46609585 46609585 T C EPAS1 Nonsynonymous SNV M770T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.088 331466 chr8 144943842 144943842 C T rs782761073 EPPK1 Nonsynonymous SNV V1194I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.893 331467 chr8 144997257 144997257 G A rs202182619 PLEC Synonymous SNV A2266A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.895 331468 chr5 169309749 169309749 C T INSYN2B Nonsynonymous SNV R385K 0 0.003 0 0 0 1 0 0 0 0 0 0 0.001 331469 chr8 145139478 145139478 C T rs532849593 GPAA1 Nonsynonymous SNV R326C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 331470 chr12 122710514 122710514 G T rs76582402 DIABLO Nonsynonymous SNV F16L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.43 331471 chr5 154346287 154346287 C T rs753496371 MRPL22 Nonsynonymous SNV R71C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 331472 chr8 1581052 1581052 A G rs762904628 DLGAP2 Synonymous SNV E550E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.672 331473 chr8 1581161 1581161 A G rs1016529791 DLGAP2 Nonsynonymous SNV I587V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.782 331474 chr12 124409694 124409694 G A rs145617767 DNAH10 Nonsynonymous SNV R3837H 0 0 0 1 0 0 0.003 0 0 0 0 0 35 331475 chr8 21958400 21958400 C T rs138222967 FAM160B2 Synonymous SNV S510S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.65 331476 chr5 171509440 171509440 T A rs150715921 STK10 Nonsynonymous SNV M627L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.53 331477 chr12 133502218 133502218 G T rs774422357 ZNF605 Nonsynonymous SNV T587K 0 0 0 2 0 0 0.005 0 0 0 0 1 25.4 331478 chr5 176317833 176317833 C T rs146251872 HK3 Nonsynonymous SNV G175D 0.002 0 0 0 2 0 0 0 0 0 0 0 23.7 331479 chr8 37692836 37692836 G A rs532653294 ADGRA2 Nonsynonymous SNV E585K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 331480 chr8 38948817 38948817 G C rs769599236 ADAM9 Synonymous SNV P750P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.266 331481 chr1 32829448 32829448 G A rs144839297 TSSK3 Nonsynonymous SNV R133Q 0 0.003 0 0 0 1 0 0 0 0 0 0 32 331482 chr5 35991299 35991299 G A rs141973992 UGT3A1 Nonsynonymous SNV S15F 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 331483 chr8 665963 665963 T - ERICH1 S23Vfs*20 0 0 0.003 0 0 0 0 1 0 0 0 0 331484 chr8 67049375 67049375 C A rs144527623 TRIM55 Synonymous SNV R185R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 331485 chr8 71570064 71570064 T C rs780641230 LACTB2 Nonsynonymous SNV I114V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 331486 chr8 89086860 89086860 T C rs61753768 MMP16 Nonsynonymous SNV S399G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 331487 chr13 53624617 53624617 T C rs756941149 OLFM4 Nonsynonymous SNV L415P 0 0 0 1 0 0 0.003 0 0 0 0 0 28.9 331488 chr5 64925797 64925797 A G rs7714222 SHLD3 Nonsynonymous SNV K128R 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.002 331489 chr5 64956673 64956673 A G rs16894188 TRAPPC13 Synonymous SNV K119K 0.001 0 0.003 0 1 0 0 1 0 0 0 0 4.465 331490 chr1 39876172 39876172 G A rs202128025 KIAA0754 Nonsynonymous SNV A79T 0 0.003 0 0 0 1 0 0 0 0 0 0 14.28 331491 chr8 99440252 99440252 G A rs770114047 KCNS2 Synonymous SNV E15E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.659 331492 chr9 100459453 100459453 G A rs778289269 XPA Nonsynonymous SNV A41V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 331493 chr13 108922548 108922548 T C rs759938074 TNFSF13B Nonsynonymous SNV L102P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.875 331494 chr9 112082515 112082515 G T EPB41L4B Nonsynonymous SNV A71E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 331495 chr9 114694384 114694384 A G rs542519537 MIR4668 0 0 0.003 0 0 0 0 1 0 0 0 0 0.536 331496 chr9 115200865 115200865 A G HSDL2 Synonymous SNV E178E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.819 331497 chr5 90007092 90007092 C G rs200503628 ADGRV1 Nonsynonymous SNV Q2999E 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 24.6 331498 chr14 21501987 21501987 G A rs200219413 RNASE13 Nonsynonymous SNV S154L 0 0 0 1 0 0 0.003 0 0 0 0 0 20.8 331499 chr3 184020568 184020568 C G rs771770952 PSMD2 Nonsynonymous SNV S192C 0 0.003 0 0 0 1 0 0 0 0 0 0 24.4 331500 chr9 129957391 129957391 C T RALGPS1 Nonsynonymous SNV S311F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 331501 chr9 131191228 131191228 C T rs768588550 CERCAM Nonsynonymous SNV A250V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 331502 chr3 186917226 186917226 C T LOC101929106 0 0.003 0 0 0 1 0 0 0 0 0 0 10.03 331503 chr14 24592185 24592185 G A rs143139674 DCAF11 Nonsynonymous SNV D469N 0 0 0 1 0 0 0.003 0 0 0 0 0 24 331504 chr14 32902835 32902835 A G AKAP6 Nonsynonymous SNV M46V 0 0 0 1 0 0 0.003 0 0 0 0 0 0.069 331505 chr14 37050378 37050378 G A rs770146000 NKX2-8 Nonsynonymous SNV S150L 0 0 0 1 0 0 0.003 0 0 0 0 0 14.5 331506 chr6 117923347 117923347 C T GOPC Synonymous SNV E35E 0.002 0 0 0 2 0 0 0 0 0 0 0 12.52 331507 chr14 47314993 47314993 C T MDGA2 Nonsynonymous SNV A920T 0 0 0 1 0 0 0.003 0 0 0 0 0 21.6 331508 chr9 137023055 137023055 C T WDR5 Synonymous SNV I315I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 331509 chr9 137741153 137741153 - ATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACG MIR3689C 0 0 0.007 0 0 0 0 2 0 0 1 0 331510 chr6 130442067 130442067 A C rs141990019 L3MBTL3 Nonsynonymous SNV T619P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 331511 chr3 195022313 195022313 T C rs150453415 ACAP2 Synonymous SNV E462E 0.001 0 0 0 1 0 0 0 0 0 0 0 5.986 331512 chr14 55169248 55169248 C G rs769332174 SAMD4A Nonsynonymous SNV S222C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 331513 chr9 139568327 139568327 C T rs370950858 AGPAT2 Synonymous SNV A206A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 331514 chr14 55433307 55433307 T C rs200065489 WDHD1 Synonymous SNV S609S 0 0 0 1 0 0 0.003 0 0 0 0 0 2.216 331515 chr3 195063329 195063329 T G ACAP2 Nonsynonymous SNV E133D 0.001 0 0 0 1 0 0 0 0 0 0 0 2.962 331516 chr14 64484335 64484335 A G rs143578863 SYNE2 Nonsynonymous SNV Y1637C 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 16.54 331517 chr14 65208854 65208854 G C PLEKHG3 Nonsynonymous SNV E873D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.08 331518 chr9 21278161 21278161 T G rs532592984 IFNA22P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.399 331519 chr9 27949321 27949321 C T rs750277332 LINGO2 Nonsynonymous SNV R450H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 331520 chr9 334277 334277 G A rs374952856 DOCK8 Nonsynonymous SNV R325H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 331521 chr9 34397619 34397619 A T C9orf24 Nonsynonymous SNV S5T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 331522 chr9 35737408 35737408 A G GBA2 Nonsynonymous SNV C848R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 331523 chr9 35800706 35800706 C A NPR2 Nonsynonymous SNV P407T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 331524 chr9 36170281 36170281 A G CCIN Nonsynonymous SNV K261R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.702 331525 chr3 112357327 112357327 G T rs373216819 CCDC80 Synonymous SNV R476R 0 0.003 0 0 0 1 0 0 0 0 0 0 8.642 331526 chr14 77579875 77579875 C A CIPC Synonymous SNV V138V 0 0 0 1 0 0 0.003 0 0 0 0 0 11.46 331527 chr14 88729808 88729808 C T rs150779140 KCNK10 Nonsynonymous SNV R42H 0 0 0 1 0 0 0.003 0 0 0 0 0 25.3 331528 chr9 79323155 79323155 G A rs758815114 PRUNE2 Synonymous SNV I1345I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.186 331529 chr9 95054749 95054749 A G MIR3651, SNORA84 0 0 0.003 0 0 0 0 1 0 0 0 0 8.787 331530 chr9 97349721 97349721 C T rs755966396 FBP2 Synonymous SNV T67T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 331531 chr9 97844993 97844993 T C rs150812918 AOPEP Nonsynonymous SNV F720S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 331532 chrX 100532678 100532678 T C rs772067784 TAF7L Nonsynonymous SNV K203E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 331533 chrX 103267795 103267795 C T H2BFWT Synonymous SNV L146L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.113 331534 chrX 125298717 125298717 G A rs369300719 DCAF12L2 Synonymous SNV P397P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.493 331535 chrX 128723914 128723914 C T rs184840261 OCRL Synonymous SNV S846S 0 0 0.01 0 0 0 0 3 0 0 1 0 14.65 331536 chr14 104174897 104174897 G A rs117761689 XRCC3 Nonsynonymous SNV T52M 0 0 0 1 0 0 0.003 0 0 0 0 0 24.6 331537 chrX 153524321 153524321 A C TKTL1 Synonymous SNV R37R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 331538 chrX 153700967 153700967 G A PLXNA3 Nonsynonymous SNV R1852Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.22 331539 chr15 34640500 34640500 C T rs199644358 NUTM1 Nonsynonymous SNV S134L 0 0 0 1 0 0 0.003 0 0 0 0 0 19.23 331540 chrX 47272095 47272095 A G ZNF157 Nonsynonymous SNV H208R 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 331541 chrX 48926106 48926106 C T rs868970142 CCDC120 Nonsynonymous SNV P668L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 331542 chrX 70678100 70678100 T C rs779320845 TAF1 Synonymous SNV L1672L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 4.525 331543 chr4 142155124 142155124 A G rs150746750 ZNF330 Nonsynonymous SNV Y255C 0 0.003 0 0 0 1 0 0 0 0 0 0 23.9 331544 chr10 101590175 101590175 G A rs767142650 ABCC2 Nonsynonymous SNV R911Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 331545 chr15 48789524 48789524 C G rs762745991 FBN1 Synonymous SNV G744G 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 11.88 331546 chr15 50884685 50884685 G A rs370132106 TRPM7 Synonymous SNV L1249L 0 0 0 1 0 0 0.003 0 0 0 0 0 5.472 331547 chr10 102672889 102672889 G T SLF2 Nonsynonymous SNV A8S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 331548 chr15 56387719 56387719 G T rs757411356 RFX7 Nonsynonymous SNV A639D 0 0 0 1 0 0 0.003 0 0 0 0 0 1.944 331549 chr4 147795903 147795903 T C rs36060598 TTC29 Nonsynonymous SNV K255R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.78 331550 chr4 148441016 148441016 G A rs747164622 EDNRA Nonsynonymous SNV R145H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 331551 chr15 62985101 62985101 C T rs200757518 TLN2 Synonymous SNV S392S 0 0 0 1 0 0 0.003 0 0 0 0 0 14.74 331552 chr10 120934104 120934104 C G rs777726725 PRDX3 Nonsynonymous SNV S57T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 331553 chr10 134021654 134021654 G A STK32C Synonymous SNV L454L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.689 331554 chr10 134682875 134682875 G A CFAP46 Nonsynonymous SNV L1505F 0 0 0.003 0 0 0 0 1 0 0 0 0 19.02 331555 chr10 135085322 135085322 G A ADAM8 Nonsynonymous SNV A326V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 331556 chr10 14882086 14882086 G T rs780399435 HSPA14 Nonsynonymous SNV A51S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 331557 chr15 90208825 90208825 T G PLIN1 Nonsynonymous SNV K520Q 0 0 0 1 0 0 0.003 0 0 0 0 0 29.5 331558 chr10 24813585 24813585 G A rs145162894 KIAA1217 Synonymous SNV S613S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.041 331559 chr10 27469896 27469896 T C rs757596656 MASTL Nonsynonymous SNV W761R 0 0 0.003 0 0 0 0 1 0 0 0 0 32 331560 chr7 114619719 114619719 C T rs147422692 MDFIC Nonsynonymous SNV P126S 0.002 0 0 0 2 0 0 0 0 0 0 0 33 331561 chr7 117171120 117171120 C G rs759310470 CFTR Nonsynonymous SNV H147Q 0.002 0 0 0 2 0 0 0 0 0 0 0 Uncertain significance 23.2 331562 chr4 36286069 36286069 C T rs765242624 DTHD1 Nonsynonymous SNV T248I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.81 331563 chr10 45430410 45430410 A C rs768647199 TMEM72 Nonsynonymous SNV K101T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 331564 chr7 124404998 124404998 C A rs747778141 GPR37 Nonsynonymous SNV M11I 0.002 0 0 0 2 0 0 0 0 0 0 0 6.711 331565 chr15 102358815 102358815 A G OR4F15 Synonymous SNV L142L 0 0 0 1 0 0 0.003 0 0 0 0 0 0.004 331566 chr16 624503 624503 G A rs33997204 PIGQ Synonymous SNV L143L 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 0.026 331567 chr16 920852 920852 G A rs769234511 LMF1 Nonsynonymous SNV S261L 0 0 0 1 0 0 0.003 0 0 0 0 0 9.364 331568 chr10 48386028 48386028 G A RBP3 Nonsynonymous SNV P1022S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 331569 chr7 134853645 134853645 C T CYREN Synonymous SNV T10T 0.002 0 0 0 2 0 0 0 0 0 0 0 16.21 331570 chr7 143806751 143806751 C T OR2A2 Nonsynonymous SNV L26F 0 0.003 0 0 0 1 0 0 0 0 0 0 19.94 331571 chr10 58118390 58118390 G A rs144093451 ZWINT Nonsynonymous SNV P193L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 331572 chr16 3293447 3293447 C T rs28940580 MEFV Nonsynonymous SNV M680I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.002 331573 chr7 148801487 148801487 G A rs752579041 ZNF425 Synonymous SNV H492H 0.002 0 0 0 2 0 0 0 0 0 0 0 2.007 331574 chr7 149153028 149153028 C T rs775559514 ZNF777 Nonsynonymous SNV R29Q 0.002 0 0 0 2 0 0 0 0 0 0 0 21.1 331575 chr16 4387495 4387495 G A rs762142916 GLIS2 Synonymous SNV S515S 0 0 0 1 0 0 0.003 0 0 0 0 0 0.09 331576 chr16 4790298 4790298 G A rs140848718 C16orf71 Nonsynonymous SNV E141K 0 0 0 1 0 0 0.003 0 0 0 0 0 2.5 331577 chr16 4848594 4848594 G A rs767771299 ROGDI Synonymous SNV P169P 0 0 0 1 0 0 0.003 0 0 0 0 0 Uncertain significance 1.455 331578 chr4 79199875 79199875 G A FRAS1 Nonsynonymous SNV V350I 0.001 0 0 0 1 0 0 0 0 0 0 0 7.976 331579 chr16 14041953 14041953 G A rs138583819 ERCC4 Nonsynonymous SNV D834N 0 0 0 1 0 0 0.003 0 0 0 0 0 23.2 331580 chr16 19452141 19452141 A G rs571200475 TMC5 Nonsynonymous SNV T261A 0 0 0 1 0 0 0.003 0 0 0 0 0 2.143 331581 chr16 19548200 19548200 A G rs571703398 CCP110 Synonymous SNV G403G 0 0 0 1 0 0 0.003 0 0 0 0 0 1.282 331582 chr10 82329972 82329972 A G rs200521688 SH2D4B Nonsynonymous SNV M34V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 331583 chr16 20843480 20843480 T C rs966429282 REXO5 Synonymous SNV I387I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.77 331584 chr16 22334211 22334211 G A rs150257924 POLR3E Nonsynonymous SNV G307S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 331585 chr7 2559766 2559766 C T rs1055489560 LFNG Nonsynonymous SNV P91S 0.002 0 0 0 2 0 0 0 0 0 0 0 7.893 331586 chr10 91469005 91469005 T C rs140554027 KIF20B Nonsynonymous SNV S77P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 331587 chr10 93778551 93778551 C T rs138796628 BTAF1 Synonymous SNV Y1574Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 331588 chr16 30096042 30096042 C T rs559521168 PPP4C Synonymous SNV D186D 0 0 0 1 0 0 0.003 0 0 0 0 0 12.32 331589 chr10 99003846 99003846 C T rs373387760 ARHGAP19 Nonsynonymous SNV R326Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.214 331590 chr5 134705801 134705801 C T rs200726913 MACROH2A1 Synonymous SNV A68A 0.002 0 0 0 2 0 0 0 0 0 0 0 18.78 331591 chr16 56868072 56868072 C T rs771065608 NUP93 Nonsynonymous SNV R401W 0 0 0 1 0 0 0.003 0 0 0 0 0 35 331592 chr16 58540912 58540912 T C NDRG4 Nonsynonymous SNV Y223H 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 331593 chr16 58550383 58550383 C T SETD6 Nonsynonymous SNV P160S 0 0 0 1 0 0 0.003 0 0 0 0 0 6.044 331594 chr5 132534973 132534973 G T rs775772895 FSTL4 Synonymous SNV P781P 0.001 0 0 0 1 0 0 0 0 0 0 0 4.02 331595 chr16 67964878 67964878 C T rs141577010 CTRL Nonsynonymous SNV G61S 0 0 0 1 0 0 0.003 0 0 0 0 0 33 331596 chr16 67969505 67969505 C T rs144563727 PSMB10 Nonsynonymous SNV R160H 0 0 0 1 0 0 0.003 0 0 0 0 0 31 331597 chr11 10540661 10540661 C T rs139943988 RNF141 Synonymous SNV E154E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 331598 chr11 10715109 10715109 C T MRVI1 Nonsynonymous SNV G14E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 331599 chr16 70190632 70190632 G C rs373160172 PDPR Synonymous SNV V730V 0 0 0 1 0 0 0.003 0 0 0 0 0 10.91 331600 chr11 108811036 108811036 A G rs61751527 DDX10 Synonymous SNV P838P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.085 331601 chr11 111430931 111430931 C T rs772510835 LAYN Synonymous SNV S146S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.15 331602 chr7 65439533 65439533 G A rs757418833 GUSB Synonymous SNV P262P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.353 331603 chr16 71703183 71703183 G A rs186124960 PHLPP2 Synonymous SNV P541P 0 0 0 1 0 0 0.003 0 0 0 0 0 10.96 331604 chr16 72992185 72992185 G C rs367686025 ZFHX3 Nonsynonymous SNV H620Q 0 0 0 1 0 0 0.003 0 0 0 0 0 19.29 331605 chr5 149216416 149216416 G A rs751959516 PPARGC1B Nonsynonymous SNV G761S 0.002 0 0 0 2 0 0 0 0 0 0 0 22.5 331606 chr7 80300333 80300333 G A CD36 Nonsynonymous SNV G248R 0 0.003 0 0 0 1 0 0 0 0 0 0 33 331607 chr11 119003873 119003873 C T rs199743668 HINFP Synonymous SNV T155T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 331608 chr4 187535483 187535483 T C FAT1 Nonsynonymous SNV T3031A 0 0.003 0 0 0 1 0 0 0 0 0 0 9.999 331609 chr16 84205904 84205904 G A rs148387367 DNAAF1 Nonsynonymous SNV V287I 0 0 0 1 0 0 0.003 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.376 331610 chr16 84520571 84520571 T C rs199749264 MEAK7 Nonsynonymous SNV I208M 0 0 0 1 0 0 0.003 0 0 0 0 0 0.486 331611 chr11 124413059 124413059 G T rs367688238 OR8B12 Nonsynonymous SNV N164K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.772 331612 chr11 124495754 124495756 AAG - rs572874831 TBRG1 K138del 0 0 0.003 0 0 0 0 1 0 0 0 0 331613 chr11 125769877 125769877 G A rs755629238 HYLS1 Nonsynonymous SNV R205Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 331614 chr8 10480514 10480514 G A rs148800956 RP1L1 Synonymous SNV D66D 0 0.003 0 0 0 1 0 0 0 0 0 0 Benign 10.17 331615 chr11 126104932 126104932 C T rs761385494 FAM118B Synonymous SNV D12D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.31 331616 chr11 126162535 126162535 T G TIRAP Nonsynonymous SNV S77R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 331617 chr8 10583783 10583783 T G SOX7 Nonsynonymous SNV D211A 0 0.003 0 0 0 1 0 0 0 0 0 0 26.1 331618 chr7 99631031 99631031 T C ZKSCAN1 Synonymous SNV F88F 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 331619 chr11 1278867 1278867 G A rs374620537 MUC5B Synonymous SNV P5459P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.698 331620 chr11 1331427 1331427 G C rs372968261 TOLLIP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.727 331621 chr11 17190288 17190288 G C PIK3C2A Nonsynonymous SNV T334R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 331622 chr5 31495479 31495479 C A rs61751194 DROSHA Nonsynonymous SNV A520S 0.002 0 0 0 2 0 0 0 0 0 0 0 14.25 331623 chr11 17660991 17660991 C T rs538911042 OTOG Nonsynonymous SNV P2651L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 331624 chr17 3195750 3195750 T - rs756901542 OR3A1 R43Gfs*43 0 0 0 1 0 0 0.003 0 0 0 0 0 331625 chr11 1887722 1887722 C A rs999950741 LSP1 Synonymous SNV S6S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 331626 chr8 125499323 125499323 T C RNF139 Nonsynonymous SNV V478A 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 331627 chr11 22396405 22396405 G A rs117003321 SLC17A6 Synonymous SNV T382T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 331628 chr11 31263028 31263028 C T rs573645447 DCDC1 Nonsynonymous SNV R397Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 331629 chr11 43284814 43284814 G A rs544585340 HNRNPKP3 0 0 0.003 0 0 0 0 1 0 0 0 0 6.392 331630 chr17 7750497 7750497 G A KDM6B Synonymous SNV R328R 0 0 0 1 0 0 0.003 0 0 0 0 0 1.276 331631 chr11 4510203 4510203 C A rs760418074 OR52K1 Nonsynonymous SNV L25M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.641 331632 chr8 16859364 16859364 G A rs763226027 FGF20 Synonymous SNV L60L 0 0.003 0 0 0 1 0 0 0 0 0 0 14.74 331633 chr8 145747954 145747954 C T LRRC24 Nonsynonymous SNV G483S 0.002 0 0 0 2 0 0 0 0 0 0 0 8.763 331634 chr8 1719266 1719266 C A rs386834129 CLN8 Nonsynonymous SNV L16M 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 0.643 331635 chr6 112390625 112390625 G C rs782019386 CCN6 Nonsynonymous SNV Q289H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.46 331636 chr8 22168751 22168751 G A rs151093485 PIWIL2 Nonsynonymous SNV E643K 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 331637 chr6 116559500 116559500 G A rs891180462 NT5DC1 Nonsynonymous SNV G358R 0.001 0 0 0 1 0 0 0 0 0 0 0 32 331638 chr17 34091305 34091305 C A C17orf50 Nonsynonymous SNV P98H 0 0 0 1 0 0 0.003 0 0 0 0 0 31 331639 chr5 138160267 138160267 A G rs201391408 CTNNA1 Nonsynonymous SNV I110V 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 6.546 331640 chr8 23299163 23299163 C T rs113598172 ENTPD4 Synonymous SNV A267A 0.001 0 0 0 1 0 0 0 0 0 0 0 18.99 331641 chr8 27516644 27516644 T C SCARA3 Synonymous SNV D319D 0.001 0 0 0 1 0 0 0 0 0 0 0 0.091 331642 chr8 67579146 67579146 - GGAGGTGGCGGCGGCAAC VCPIP1 P16_P17insLPPPPP 0 0.003 0 0 0 1 0 0 0 0 0 0 331643 chr8 8749036 8749036 G C MFHAS1 Nonsynonymous SNV H511Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.099 331644 chr2 31215865 31215865 G A rs140107954 GALNT14 Synonymous SNV D46D 0 0.003 0 0 0 1 0 0 0 0 0 0 2.631 331645 chr8 53451048 53451048 T C rs747915262 ALKAL1 Synonymous SNV R115R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.879 331646 chr8 95423503 95423503 T C rs754253078 RAD54B Synonymous SNV Q115Q 0 0.003 0 0 0 1 0 0 0 0 0 0 0.004 331647 chr6 149699216 149699216 T C rs775402300 TAB2 Synonymous SNV Y55Y 0.002 0 0 0 2 0 0 0 0 0 0 0 0.002 331648 chr8 9609165 9609165 C T rs768079628 TNKS Nonsynonymous SNV A960V 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 331649 chr11 56468457 56468457 G A rs751755294 OR9G1, OR9G9 Nonsynonymous SNV M198I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.723 331650 chr6 158359672 158359672 T A SNX9 Nonsynonymous SNV I514K 0 0.003 0 0 0 1 0 0 0 0 0 0 32 331651 chr11 57472541 57472543 GCT - MED19 S143del 0 0 0.003 0 0 0 0 1 0 0 0 0 331652 chr2 44065014 44065014 T A ABCG5 Nonsynonymous SNV Y75F 0 0.003 0 0 0 1 0 0 0 0 0 0 13.27 331653 chr8 86360351 86360351 A G rs760413952 CA3 Nonsynonymous SNV N251S 0.002 0 0 0 2 0 0 0 0 0 0 0 13.79 331654 chr17 43247094 43247094 G A rs541059400 HEXIM2 Nonsynonymous SNV R282Q 0 0 0 1 0 0 0.003 0 0 0 0 0 21.1 331655 chr6 160227065 160227065 G A rs775972546 PNLDC1 Stop gain W171X 0.002 0 0 0 2 0 0 0 0 0 0 0 36 331656 chr17 54588351 54588351 C A rs2241936 ANKFN1 Synonymous SNV A986A 0 0 0 1 0 0 0.003 0 0 0 0 0 13.98 331657 chr9 115805250 115805250 A G rs767253012 ZFP37 Nonsynonymous SNV C565R 0.002 0 0 0 2 0 0 0 0 0 0 0 24.5 331658 chr9 116838918 116838918 C T rs141383606 AMBP Nonsynonymous SNV A74T 0.002 0 0 0 2 0 0 0 0 0 0 0 0.003 331659 chr11 64416356 64416356 T C rs148473653 NRXN2 Nonsynonymous SNV S1005G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 20.2 331660 chr6 39881536 39881536 C T MOCS1 Synonymous SNV L122L 0.002 0 0 0 2 0 0 0 0 0 0 0 14.09 331661 chr11 6635887 6635887 C T rs375364589 TPP1 Nonsynonymous SNV D528N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.078 331662 chr9 130207208 130207208 C G ZNF79 Nonsynonymous SNV T276S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 331663 chr11 66813216 66813216 C T rs75543672 SYT12 Synonymous SNV D205D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 331664 chr17 73820422 73820422 C T rs373788530 UNK Nonsynonymous SNV A786V 0 0 0 1 0 0 0.003 0 0 0 0 0 9.32 331665 chr9 131186808 131186808 C A CERCAM Nonsynonymous SNV D149E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.017 331666 chr11 6740460 6740460 T C rs756523125 GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.569 331667 chr6 33695919 33695919 C T rs141588840 IP6K3 Nonsynonymous SNV D120N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.732 331668 chr11 71724176 71724176 G T rs779249263 NUMA1 Nonsynonymous SNV A1458D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 331669 chr5 74442562 74442562 A G ANKRD31 Nonsynonymous SNV S892P 0 0.003 0 0 0 1 0 0 0 0 0 0 19.42 331670 chr17 78262033 78262033 T C rs200437340 RNF213 Synonymous SNV A227A 0 0 0 1 0 0 0.003 0 0 0 0 0 0.321 331671 chr17 78319361 78319361 G A rs745694603 RNF213 Nonsynonymous SNV R2409Q 0 0 0 1 0 0 0.003 0 0 0 0 0 32 331672 chr9 136522300 136522300 C T rs138716242 DBH Synonymous SNV S557S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.926 331673 chr6 41162197 41162197 G C rs185375765 TREML2 Nonsynonymous SNV L251V 0.001 0 0 0 1 0 0 0 0 0 0 0 7.675 331674 chr17 79213170 79213170 G A NDUFAF8 Nonsynonymous SNV A3T 0 0 0 1 0 0 0.003 0 0 0 0 0 11.52 331675 chr6 42713340 42713340 T A rs201215074 TBCC Nonsynonymous SNV I158F 0.001 0 0 0 1 0 0 0 0 0 0 0 0.982 331676 chr9 15190611 15190611 C A rs953191930 TTC39B Nonsynonymous SNV R280M 0.001 0 0 0 1 0 0 0 0 0 0 0 34 331677 chr9 15444612 15444612 A G rs774615578 SNAPC3 Nonsynonymous SNV I164V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.066 331678 chr11 94760179 94760179 A G KDM4E Synonymous SNV R486R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 331679 chr11 95713078 95713078 T C rs745826612 MAML2 Synonymous SNV P835P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 331680 chr11 994239 994239 C T rs375811339 AP2A2 Synonymous SNV S651S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.466 331681 chr9 34658640 34658640 G A rs745960183 IL11RA Nonsynonymous SNV R257H 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 331682 chr12 107395135 107395135 C T rs754173809 CRY1 Nonsynonymous SNV D203N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 331683 chr18 33935607 33935607 G A rs373907940 FHOD3 Nonsynonymous SNV G91R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.4 331684 chr12 115109800 115109800 T C rs376267079 TBX3 Nonsynonymous SNV N673S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.047 331685 chr9 37707563 37707563 C A FRMPD1 Synonymous SNV V84V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.87 331686 chr18 47787589 47787589 T C CFAP53 Synonymous SNV A106A 0 0 0 1 0 0 0.003 0 0 0 0 0 6.032 331687 chr6 88046818 88046818 A G rs138902411 SMIM8 Synonymous SNV P23P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.481 331688 chr9 4585521 4585521 C G SLC1A1 Nonsynonymous SNV S513C 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 331689 chr3 16217128 16217128 G A GALNT15 Nonsynonymous SNV R157H 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 331690 chr9 72967129 72967129 C - SMC5 S1063Lfs*4 0.002 0 0 0 2 0 0 0 0 0 0 0 331691 chr12 122964800 122964800 G A rs369863776 ZCCHC8 Synonymous SNV Y282Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.03 331692 chr12 132325207 132325207 C T rs377068027 MMP17 Nonsynonymous SNV A171V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.37 331693 chrX 110956495 110956495 T G rs767735916 ALG13 Synonymous SNV T325T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 9.461 331694 chrX 117875051 117875051 C G IL13RA1 Nonsynonymous SNV P54A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.78 331695 chrX 117900917 117900917 T C rs773460544 IL13RA1 Synonymous SNV N329N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.057 331696 chrX 123775795 123775795 T C TENM1 Synonymous SNV K641K 0.001 0 0 0 1 0 0 0 0 0 0 0 2.034 331697 chr19 810598 810598 G A rs146498992 PTBP1 Nonsynonymous SNV V481I 0 0 0 1 0 0 0.003 0 0 0 0 0 Likely benign 24.3 331698 chrX 135488019 135488019 C A rs139741225 ADGRG4 Synonymous SNV G2941G 0.001 0 0 0 1 0 0 0 0 0 0 0 12.67 331699 chr19 990887 990887 C T rs747206411 WDR18 Synonymous SNV S211S 0 0 0 1 0 0 0.003 0 0 0 0 0 11.41 331700 chr7 127252008 127252008 G A rs147670794 PAX4 Synonymous SNV I254I 0 0.003 0 0 0 1 0 0 0 0 0 0 12.4 331701 chrX 134711138 134711138 A C INTS6L Synonymous SNV A598A 0.002 0 0 0 2 0 0 0 0 0 0 0 0.652 331702 chr12 41337420 41337420 T C rs61759480 CNTN1 Synonymous SNV G456G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 2.622 331703 chrX 15333621 15333621 G T rs371751531 ASB11 Nonsynonymous SNV T36N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.3 331704 chrX 139866312 139866312 C T rs747835490 CDR1 Nonsynonymous SNV D74N 0.002 0 0 0 2 0 0 0 0 0 0 0 11.21 331705 chrX 16170466 16170466 C G GRPR Nonsynonymous SNV L285V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 331706 chr12 4796263 4796263 G A rs768816594 NDUFA9 Nonsynonymous SNV V375I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 331707 chr12 48064110 48064110 T A rs368438367 RPAP3 Nonsynonymous SNV I402F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 331708 chr3 32409379 32409379 G A rs114430126 CMTM8 Nonsynonymous SNV G55S 0 0.003 0 0 0 1 0 0 0 0 0 0 15.88 331709 chr12 48358057 48358057 C T rs34116679 TMEM106C Nonsynonymous SNV S13F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.984 331710 chr12 48372077 48372077 C T rs1793947 COL2A1 Synonymous SNV P931P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.7 331711 chr12 48596568 48596568 G A rs145180020 OR10AD1 Nonsynonymous SNV R170C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 331712 chr3 35750468 35750468 G C rs376425586 ARPP21 Nonsynonymous SNV R268T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.51 331713 chr12 48919428 48919428 A G rs74373347 OR8S1 Nonsynonymous SNV N5S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 331714 chr12 49170309 49170309 G A rs3730068 ADCY6 Synonymous SNV R479R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.397 331715 chr10 101646169 101646169 G A DNMBP Nonsynonymous SNV P801L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 331716 chr12 52200995 52200995 C T rs758646467 SCN8A Nonsynonymous SNV H1868Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.294 331717 chr10 104491502 104491502 G A rs760331468 SFXN2 Nonsynonymous SNV V206M 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 331718 chr7 133948686 133948686 G A rs551138396 LRGUK Nonsynonymous SNV V813I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.23 331719 chrX 46433810 46433810 C T CHST7 Synonymous SNV S148S 0.002 0 0 0 2 0 0 0 0 0 0 0 11.48 331720 chr19 5897001 5897001 G A rs562935750 NDUFA11 Synonymous SNV T35T 0 0 0.003 1 0 0 0.003 1 0 0 0 0 8.072 331721 chrX 9863839 9863839 C T SHROOM2 Nonsynonymous SNV R631W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 331722 chr12 56732868 56732868 C G IL23A Nonsynonymous SNV P14A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 331723 chr6 39563868 39563868 C A rs913460282 KIF6 Nonsynonymous SNV A270S 0 0.003 0 0 0 1 0 0 0 0 0 0 32 331724 chr12 5687121 5687121 G A rs781454169 ANO2 Synonymous SNV N813N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.465 331725 chr3 51747265 51747265 G A rs200345547 GRM2 Synonymous SNV A31A 0 0.003 0 0 0 1 0 0 0 0 0 0 5.765 331726 chr12 57974914 57974914 G A rs766671105 KIF5A Nonsynonymous SNV R816H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 331727 chr7 1484615 1484615 A G rs370668129 MICALL2 Nonsynonymous SNV V364A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 331728 chr7 150644474 150644474 G T KCNH2 Synonymous SNV R692R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.544 331729 chr12 66850110 66850110 C T rs760742394 GRIP1 Nonsynonymous SNV R352K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 331730 chr12 6970186 6970186 C T rs782762095 USP5 Synonymous SNV L472L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 331731 chr7 1536852 1536852 G A rs200632106 INTS1 Synonymous SNV H508H 0.001 0 0 0 1 0 0 0 0 0 0 0 4.797 331732 chr12 7310182 7310182 C T rs373053714 CLSTN3 Synonymous SNV R875R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.971 331733 chr12 7867861 7867861 T A rs773416967 DPPA3 Synonymous SNV P55P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 331734 chr12 81102367 81102367 G - rs777288387 MYF6 L197Sfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 331735 chr10 21157672 21157672 C G NEBL Nonsynonymous SNV G202A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.72 331736 chr19 10570312 10570312 G A rs201979291 PDE4A Synonymous SNV T175T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.46 331737 chr19 11517263 11517263 C A RGL3 Nonsynonymous SNV W276C 0 0 0 1 0 0 0.003 0 0 0 0 0 34 331738 chr13 103384187 103384187 G T rs1041513496 CCDC168 Nonsynonymous SNV P6287Q 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 331739 chr19 12187654 12187654 C G ZNF844 Nonsynonymous SNV F573L 0 0 0 1 0 0 0.003 0 0 0 0 0 12.85 331740 chr19 12244004 12244004 G A ZNF20 Nonsynonymous SNV H330Y 0 0 0 1 0 0 0.003 0 0 0 0 0 26.4 331741 chr7 4056929 4056929 C T rs376404717 SDK1 Synonymous SNV N849N 0.001 0 0 0 1 0 0 0 0 0 0 0 10.82 331742 chr19 15376259 15376259 G C rs200633797 BRD4 Nonsynonymous SNV P252R 0 0 0.003 1 0 0 0.003 1 0 0 0 0 17.38 331743 chr13 46541993 46541993 A C ZC3H13 Nonsynonymous SNV W1323G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 331744 chr19 18233489 18233489 C T rs56052621 MAST3 Synonymous SNV D80D 0 0 0 1 0 0 0.003 0 0 0 0 0 18.32 331745 chr19 23544818 23544818 G C rs764604132 ZNF91 Synonymous SNV P289P 0 0 0 1 0 0 0.003 0 0 0 0 0 0.098 331746 chr10 76784866 76784866 A G KAT6B Nonsynonymous SNV T394A 0.001 0 0 0 1 0 0 0 0 0 0 0 28 331747 chr14 103941364 103941364 G A rs376526401 MARK3 Synonymous SNV P354P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.973 331748 chr19 35753549 35753549 C T rs373941814 LSR Synonymous SNV Y273Y 0 0 0 1 0 0 0.003 0 0 0 0 0 14.15 331749 chr14 20943379 20943379 G A rs201501535 PNP Nonsynonymous SNV R207H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 331750 chr4 2746645 2746645 G A rs147415827 TNIP2 Nonsynonymous SNV R122C 0 0.003 0 0 0 1 0 0 0 0 0 0 34 331751 chr14 21555485 21555485 G A rs147559585 ARHGEF40 Nonsynonymous SNV R703H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 331752 chr19 38956780 38956780 G A rs748676912 RYR1 Nonsynonymous SNV V974M 0 0 0 1 0 0 0.003 0 0 0 0 0 27.8 331753 chr14 23857082 23857082 C T rs772235343 MYH6 Synonymous SNV E1470E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 331754 chr14 23992680 23992680 G T rs759715313 ZFHX2 Nonsynonymous SNV F2157L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 331755 chr7 142566378 142566378 C G EPHB6 Nonsynonymous SNV L431V 0 0.003 0 0 0 1 0 0 0 0 0 0 24.5 331756 chr19 41018741 41018741 C T SPTBN4 Nonsynonymous SNV A682V 0 0 0 1 0 0 0.003 0 0 0 0 0 18.13 331757 chr14 31641077 31641077 T C rs201335906 HECTD1 Nonsynonymous SNV Q441R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 331758 chr14 51226864 51226864 G A rs376540725 NIN Synonymous SNV L704L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 4.029 331759 chr19 45898981 45898981 G C PPP1R13L Nonsynonymous SNV P356R 0 0 0 1 0 0 0.003 0 0 0 0 0 24.3 331760 chr19 45918128 45918128 G A rs121913028 ERCC1 Synonymous SNV F231F 0 0 0 1 0 0 0.003 0 0 0 0 0 15.2 331761 chr8 38006159 38006159 C T rs564329147 STAR Nonsynonymous SNV G60S 0.002 0 0 0 2 0 0 0 0 0 0 0 19.85 331762 chr19 47422673 47422673 T C ARHGAP35 Synonymous SNV I247I 0 0 0 1 0 0 0.003 0 0 0 0 0 0.228 331763 chr8 42814380 42814380 A G rs903991615 HOOK3 Nonsynonymous SNV K180E 0.002 0 0 0 2 0 0 0 0 0 0 0 23.9 331764 chr8 48874160 48874160 C A MCM4 Nonsynonymous SNV P52Q 0.002 0 0 0 2 0 0 0 0 0 0 0 22.6 331765 chr19 48945599 48945599 G A GRIN2D Nonsynonymous SNV G878E 0 0 0 1 0 0 0.003 0 0 0 0 0 15.14 331766 chr19 49120590 49120590 G A rs759454766 RPL18 Synonymous SNV L32L 0 0 0 1 0 0 0.003 0 0 0 0 0 7.718 331767 chr19 50157968 50157968 C G rs144625329 SCAF1 Synonymous SNV T1153T 0 0 0 1 0 0 0.003 0 0 0 0 0 14.39 331768 chr8 94746330 94746353 TGCTCTGGGGGTGGCCGCCTGAAG - rs761814460 RBM12B P776_P783del 0.001 0 0 0 1 0 0 0 0 0 0 0 331769 chr8 97157332 97157332 G C rs968048530 GDF6 Nonsynonymous SNV A276G 0.002 0 0 0 2 0 0 0 0 0 0 0 26.4 331770 chr8 71495525 71495525 C T TRAM1 Nonsynonymous SNV A223T 0.001 0 0 0 1 0 0 0 0 0 0 0 27.4 331771 chr19 54445413 54445413 C T rs149102515 CACNG7 Synonymous SNV L232L 0 0 0 1 0 0 0.003 0 0 0 0 0 16.86 331772 chr15 43693919 43693919 T C rs374986339 TUBGCP4 Synonymous SNV D535D 0 0 0.003 0 0 0 0 1 0 0 0 0 5.89 331773 chr19 55693242 55693242 G A PTPRH Synonymous SNV I898I 0 0 0 1 0 0 0.003 0 0 0 0 0 14.14 331774 chr7 99030956 99030956 A G rs368133338 ATP5MF-PTCD1, PTCD1 Nonsynonymous SNV I180T 0 0.003 0 0 0 1 0 0 0 0 0 0 27.3 331775 chr15 58458918 58458918 G A rs147206102 AQP9 Nonsynonymous SNV R53H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 331776 chr15 58853131 58853131 A G rs751512653 LIPC Nonsynonymous SNV M374V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 331777 chr9 131418987 131418987 G A rs762357801 WDR34 Nonsynonymous SNV P7S 0.002 0 0 0 2 0 0 0 0 0 0 0 0.024 331778 chr5 160761789 160761789 A G GABRB2 Nonsynonymous SNV Y268H 0 0.003 0 0 0 1 0 0 0 0 0 0 22.6 331779 chr20 1559072 1559072 G A rs752258051 SIRPB1 Synonymous SNV A115A 0 0 0 1 0 0 0.003 0 0 0 0 0 15.33 331780 chr20 2843504 2843504 G A rs773964217 VPS16 Nonsynonymous SNV V419M 0 0 0 1 0 0 0.003 0 0 0 0 0 28.5 331781 chr20 3181028 3181028 C T rs756848059 DDRGK1 Nonsynonymous SNV R123Q 0 0 0 1 0 0 0.003 0 0 0 0 0 31 331782 chr8 144788993 144788993 G T rs782450605 CCDC166 Synonymous SNV R397R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 331783 chr16 12060106 12060106 T G rs374829740 TNFRSF17 Nonsynonymous SNV L62R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 331784 chr16 1394309 1394309 G A rs147160110 BAIAP3 Synonymous SNV A495A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.389 331785 chr16 2287651 2287651 G A rs200639506 DNASE1L2 0 0 0.007 0 0 0 0 2 0 0 0 0 23.5 331786 chr16 2335608 2335608 G A rs774292724 ABCA3 Synonymous SNV F1106F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.73 331787 chr16 28328848 28328848 G A rs201820374 SBK1 Nonsynonymous SNV A46T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.51 331788 chr20 46268423 46268423 C G rs142951578 NCOA3 Nonsynonymous SNV S937C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.7 331789 chr16 29917144 29917144 G A rs759414899 ASPHD1 Nonsynonymous SNV V367M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 331790 chr9 2717983 2717983 A C KCNV2 Nonsynonymous SNV T82P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 331791 chr16 30199403 30199403 C T rs377351892 CORO1A Synonymous SNV I334I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.607 331792 chr16 30736045 30736045 C T rs181491375 SRCAP Nonsynonymous SNV T1767M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.7 331793 chr16 30750557 30750557 C A rs188422882 SRCAP Nonsynonymous SNV L3066M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 331794 chrX 124455824 124455824 A G rs3135236 TEX13C Nonsynonymous SNV D619G 0.003 0 0 0 3 0 0 0 1 0 0 0 2.512 331795 chr6 106968489 106968489 C - CRYBG1 P728Lfs*13 0 0.003 0 0 0 1 0 0 0 0 0 0 331796 chr16 48595895 48595895 G T rs79987532 N4BP1 Nonsynonymous SNV A220D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.067 331797 chr16 50341036 50341036 G A rs145933417 ADCY7 Nonsynonymous SNV V610I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.786 331798 chr16 53331021 53331021 C T rs372385862 CHD9 Synonymous SNV Y1888Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 331799 chr9 99003134 99003134 A T HSD17B3 Nonsynonymous SNV V243E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.36 331800 chr21 40578148 40578148 T G rs781523670 BRWD1 Nonsynonymous SNV K1417T 0 0 0 1 0 0 0.003 0 0 0 0 0 23.4 331801 chrX 48673986 48673986 C A HDAC6 Nonsynonymous SNV Q421K 0 0.003 0 0 0 1 0 0 0 0 0 0 1.068 331802 chrX 140993488 140993488 C G rs145052423 MAGEC1 Nonsynonymous SNV Q100E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.008 331803 chr21 43496331 43496331 A T rs777380032 UMODL1 Nonsynonymous SNV E98D 0 0 0 1 0 0 0.003 0 0 0 0 0 16.17 331804 chr21 44985485 44985485 C T rs112305601 H2BS1 Synonymous SNV Y122Y 0 0 0 1 0 0 0.003 0 0 0 0 0 8.597 331805 chr6 160484564 160484564 G A rs138144909 IGF2R Nonsynonymous SNV G1263E 0 0.003 0 0 0 1 0 0 0 0 0 0 23.6 331806 chr2 43451902 43451902 C T rs761125625 ZFP36L2 Synonymous SNV G347G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.083 331807 chr22 18304890 18304890 A T MICAL3 Synonymous SNV R1118R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.01 331808 chrX 48839755 48839755 C T GRIPAP1 Nonsynonymous SNV R457Q 0.001 0 0 0 1 0 0 0 0 0 0 0 10.97 331809 chr6 168461680 168461680 C G rs200270905 FRMD1 Nonsynonymous SNV S300T 0 0.003 0 0 0 1 0 0 0 0 0 0 10.53 331810 chr16 89598377 89598377 C T rs762689331 SPG7 Synonymous SNV P351P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.54 331811 chr6 2124942 2124942 G A GMDS Synonymous SNV F12F 0 0.003 0 0 0 1 0 0 0 0 0 0 11.45 331812 chr17 10428586 10428586 C T MYH2 Synonymous SNV V1539V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 331813 chr17 10535317 10535317 A T MYH3 Nonsynonymous SNV L1658Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 331814 chr17 1576732 1576732 G A rs574003170 PRPF8 Synonymous SNV F1192F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 331815 chr6 33659678 33659678 C T ITPR3 Synonymous SNV G2477G 0 0.003 0 0 0 1 0 0 0 0 0 0 19.3 331816 chr17 17069140 17069140 G A rs767025740 MPRIP Nonsynonymous SNV R1444H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.24 331817 chr17 17698661 17698661 G A RAI1 Nonsynonymous SNV G800E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 331818 chr22 32804190 32804190 T C rs752210819 RTCB Nonsynonymous SNV N71S 0 0 0 1 0 0 0.003 0 0 0 0 0 25.9 331819 chr10 133795446 133795446 C G BNIP3 Synonymous SNV P20P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.387 331820 chr22 37485671 37485671 G A rs367846176 TMPRSS6 Synonymous SNV D261D 0 0 0 1 0 0 0.003 0 0 0 0 0 8.975 331821 chr22 37964216 37964216 C T rs556416144 CDC42EP1 Nonsynonymous SNV R189C 0 0 0 1 0 0 0.003 0 0 0 0 0 26.3 331822 chr22 38483176 38483176 A T rs201030553 BAIAP2L2 Nonsynonymous SNV M405K 0 0 0 1 0 0 0.003 0 0 0 0 0 0.06 331823 chr17 28545214 28545214 C T rs775933915 SLC6A4 Nonsynonymous SNV G207D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.15 331824 chr22 40816548 40816548 G T rs149008596 MRTFA Nonsynonymous SNV T305N 0 0 0 1 0 0 0.003 0 0 0 0 0 0.424 331825 chr22 44031045 44031061 TCAGCAGGGCATACTGA - EFCAB6 Q522Hfs*2 0 0 0 1 0 0 0.003 0 0 0 0 0 331826 chr22 45258262 45258262 T G rs759476149 ARHGAP8, PRR5-ARHGAP8 Synonymous SNV L363L 0 0 0 1 0 0 0.003 0 0 0 0 0 6.981 331827 chr17 36486854 36486854 T C GPR179 Synonymous SNV A866A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 331828 chr6 64430598 64430598 C T EYS Nonsynonymous SNV G3110D 0 0.003 0 0 0 1 0 0 0 0 0 0 27.4 331829 chrX 27839432 27839432 A C MAGEB10 Synonymous SNV R3R 0 0 0 1 0 0 0.003 0 0 0 0 0 0.014 331830 chr10 5144826 5144826 T C AKR1C3 Nonsynonymous SNV I277T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 331831 chr17 40259690 40259690 T C rs782735279 DHX58 Nonsynonymous SNV Y310C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 331832 chrX 50378349 50378349 G A rs782548063 SHROOM4 Nonsynonymous SNV R242C 0 0 0 1 0 0 0.003 0 0 0 0 0 11.84 331833 chrX 128880606 128880606 G A rs759943012 XPNPEP2 Nonsynonymous SNV E147K 0 0.005 0 0 0 2 0 0 0 1 0 0 22.1 331834 chr7 100417378 100417378 G A rs375470820 EPHB4 Synonymous SNV P366P 0 0.003 0 0 0 1 0 0 0 0 0 0 8.488 331835 chrX 132160369 132160369 T G USP26 Nonsynonymous SNV K627T 0 0.003 0 0 0 1 0 0 0 0 0 0 11.83 331836 chrX 132160370 132160370 T G USP26 Nonsynonymous SNV K627Q 0 0.003 0 0 0 1 0 0 0 0 0 0 12.02 331837 chr17 42992821 42992821 G A rs375692636 GFAP Nonsynonymous SNV R12C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 331838 chrX 83128179 83128179 C G rs202086052 CYLC1 Nonsynonymous SNV Q155E 0 0 0 1 0 0 0.003 0 0 0 0 0 0.001 331839 chrX 100087852 100087852 A G rs759236192 CSTF2 Synonymous SNV P370P 0 0 0 1 0 0 0.003 0 0 0 0 0 5.2 331840 chr17 4856170 4856170 C T rs139073445 ENO3 Nonsynonymous SNV R56C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 331841 chr17 4858805 4858805 C G rs188548745 ENO3 Stop gain Y214X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 331842 chrX 129148447 129148447 C T rs35616836 BCORL1 Synonymous SNV L567L 0 0 0 1 0 0 0.003 0 0 0 0 0 Benign 2.498 331843 chrX 129519397 129519397 C T rs755513302 GPR119 Nonsynonymous SNV V9M 0 0 0 1 0 0 0.003 0 0 0 0 0 14.9 331844 chrX 130407889 130407889 C T rs1040347431 IGSF1 Nonsynonymous SNV G1289R 0 0 0 1 0 0 0.003 0 0 0 0 0 25.5 331845 chrX 132548862 132548862 C A GPC4 Nonsynonymous SNV K44N 0 0 0 1 0 0 0.003 0 0 0 0 0 23 331846 chrX 134655010 134655010 T G INTS6L Synonymous SNV A31A 0 0 0 1 0 0 0.003 0 0 0 0 0 5.857 331847 chrX 150869501 150869501 A G rs780343980 PRRG3 Nonsynonymous SNV K231R 0 0 0 1 0 0 0.003 0 0 0 0 0 23.8 331848 chrX 152138016 152138016 A G rs782714058 ZNF185 Synonymous SNV E291E 0 0 0 1 0 0 0.003 0 0 0 0 0 11.48 331849 chr1 1387499 1387499 T A rs199583997 ATAD3C Nonsynonymous SNV I50N 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 331850 chr1 2105400 2105400 G A rs776780630 PRKCZ Synonymous SNV P267P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.111 331851 chr1 2523012 2523012 T C rs147088948 MMEL1 Nonsynonymous SNV S742G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 331852 chr7 133812276 133812276 C T rs762064983 LRGUK Synonymous SNV G52G 0 0.003 0 0 0 1 0 0 0 0 0 0 10.35 331853 chr17 73836587 73836587 C A rs201908137 UNC13D 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 24.9 331854 chr1 11150716 11150716 T C rs750658353 EXOSC10 Nonsynonymous SNV K218R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.07 331855 chr17 76105425 76105425 C T rs183902833 TNRC6C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.742 331856 chr17 76137183 76137183 C G TMC8 Nonsynonymous SNV A724G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.559 331857 chr1 12382008 12382008 C A VPS13D Nonsynonymous SNV P2564Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26 331858 chr1 12837555 12837555 G A PRAMEF12 Nonsynonymous SNV G422D 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 331859 chr7 141490316 141490316 C A rs376612372 TAS2R5 Nonsynonymous SNV A52D 0 0.003 0 0 0 1 0 0 0 0 0 0 25.1 331860 chr17 76989814 76989814 G A CANT1 Nonsynonymous SNV H342Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25 331861 chr10 134660730 134660730 T C CFAP46 Synonymous SNV A2016A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.021 331862 chr11 113651060 113651060 A T rs551863211 CLDN25 Synonymous SNV L181L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 331863 chr1 22162121 22162121 G A rs189103460 HSPG2 Synonymous SNV N3456N 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.48 331864 chr17 8243471 8243471 G C ODF4 Nonsynonymous SNV W34C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 331865 chr1 25667061 25667061 T G rs897624716 TMEM50A Synonymous SNV A28A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.18 331866 chr18 19751288 19751288 G A rs377217497 GATA6 Synonymous SNV G61G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.285 331867 chr1 159141624 159141624 G A rs111767231 CADM3 Synonymous SNV G23G 0.002 0 0 0 2 0 0 0 0 0 0 0 8.188 331868 chr7 29548926 29548926 A G rs147471814 CHN2 Nonsynonymous SNV N172S 0 0.003 0 0 0 1 0 0 0 0 0 0 18.06 331869 chr1 29475302 29475302 G T SRSF4 Nonsynonymous SNV R369S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 331870 chr18 33726235 33726235 G C ELP2 Nonsynonymous SNV G269A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 331871 chr1 36181589 36181589 C A C1orf216 Nonsynonymous SNV G112C 0.001 0 0 0 1 0 0 0 0 0 0 0 29 331872 chr18 49088282 49088282 C T rs965547890 LINC01630 0 0 0.003 0 0 0 0 1 0 0 0 0 9.535 331873 chr1 37980341 37980341 T C rs770091373 MEAF6 Nonsynonymous SNV M3V 0.001 0 0 0 1 0 0 0 0 0 0 0 22 331874 chr1 41847621 41847621 G A FOXO6 Nonsynonymous SNV G250S 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 331875 chr18 60230368 60230368 G A rs759060819 ZCCHC2 Synonymous SNV S559S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 331876 chr1 43296549 43296549 C T ERMAP Synonymous SNV L66L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.47 331877 chr18 72999906 72999906 A G rs767398045 TSHZ1 Synonymous SNV T848T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 331878 chr10 75532157 75532157 C T FUT11 Synonymous SNV S22S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.407 331879 chr18 76757150 76757150 G C rs755861057 SALL3 Nonsynonymous SNV S1244T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 331880 chr18 77067120 77067120 C T rs148663973 ATP9B Synonymous SNV N553N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 331881 chr19 10229565 10229565 A G rs201202253 EIF3G Synonymous SNV D73D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.832 331882 chr7 86817574 86817574 C A rs993525139 DMTF1 Nonsynonymous SNV S368R 0 0.003 0 0 0 1 0 0 0 0 0 0 22.8 331883 chr1 62733958 62733958 C - rs568600301 KANK4 0.001 0 0 0 1 0 0 0 0 0 0 0 331884 chr19 14554322 14554322 G A rs368601143 PKN1 Synonymous SNV S121S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 331885 chr7 99217516 99217516 G A rs574730636 ZSCAN25 Nonsynonymous SNV R96H 0 0.003 0 0 0 1 0 0 0 0 0 0 23.2 331886 chr13 96589310 96589310 C G rs41277672 UGGT2 Synonymous SNV L615L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 331887 chr11 48267471 48267471 G A rs138713871 OR4X2 Synonymous SNV A272A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.059 331888 chr19 17311195 17311195 C T rs372066022 MYO9B Synonymous SNV H1444H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.439 331889 chr19 1789059 1789059 T G rs371311608 ATP8B3 Nonsynonymous SNV D932A 0 0 0.003 0 0 0 0 1 0 0 0 0 23 331890 chr1 109811735 109811735 C T rs373429216 CELSR2 Nonsynonymous SNV T2212M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 331891 chr11 117789478 117789478 G A rs768159872 TMPRSS13 Nonsynonymous SNV R33W 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 331892 chr1 111146488 111146488 T G KCNA2 Nonsynonymous SNV K306T 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 331893 chr19 33099289 33099289 C T rs76427814 SNORA68B 0 0 0.003 0 0 0 0 1 0 0 0 0 7.627 331894 chr11 12316350 12316350 - CTCCTCCTCCTC MICALCL P470_T471insPPPP 0.001 0 0 0 1 0 0 0 0 0 0 0 331895 chr1 145562371 145562371 A G ANKRD35 Nonsynonymous SNV T597A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.86 331896 chr1 147230647 147230649 TCT - GJA5 K233del 0.001 0 0 0 1 0 0 0 0 0 0 0 331897 chr1 150241103 150241103 G T APH1A Synonymous SNV V36V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.475 331898 chr19 36246427 36246427 T A HSPB6 Nonsynonymous SNV K160M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 331899 chr14 53100331 53100331 G A rs766952761 GPR137C Synonymous SNV S317S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.44 331900 chr14 55605039 55605039 G A rs752446020 LGALS3 Nonsynonymous SNV G99R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 331901 chr1 155349842 155349842 G A ASH1L Nonsynonymous SNV H2062Y 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 331902 chr8 145947131 145947131 T C rs113275959 ZNF251 Synonymous SNV T638T 0 0.003 0 0 0 1 0 0 0 0 0 0 0.039 331903 chr8 146032685 146032685 G C rs113318407 ZNF517 Synonymous SNV V121V 0 0.003 0 0 0 1 0 0 0 0 0 0 0.365 331904 chr19 40199855 40199855 C T rs768482478 LGALS14 Nonsynonymous SNV R108C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 331905 chr8 146278038 146278038 G A rs149359042 C8orf33 Nonsynonymous SNV G25R 0 0.003 0 0 0 1 0 0 0 0 0 0 0.059 331906 chr1 156236039 156236039 C T rs199931814 SMG5 Nonsynonymous SNV R417H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 331907 chr19 40433417 40433417 A C FCGBP Synonymous SNV T284T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 331908 chr19 42857999 42857999 C - rs777587948 MEGF8 S1212Hfs*60 0 0 0.003 0 0 0 0 1 0 0 0 0 331909 chr8 26372007 26372007 T A rs1005865108 DPYSL2 Nonsynonymous SNV S56T 0 0.003 0 0 0 1 0 0 0 0 0 0 17.18 331910 chr1 160124945 160124945 A G rs201785038 ATP1A4 Synonymous SNV G106G 0.001 0 0 0 1 0 0 0 0 0 0 0 2.297 331911 chr14 75553889 75553889 T G NEK9 Synonymous SNV T895T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.904 331912 chr14 75553891 75553891 T G NEK9 Nonsynonymous SNV T895P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.724 331913 chr1 160178408 160178408 G A rs766108374 PEA15 Nonsynonymous SNV G5E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 331914 chr1 161275691 161275691 C G MPZ Nonsynonymous SNV G241A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.4 331915 chr1 162729760 162729760 T C DDR2 Synonymous SNV T282T 0.001 0 0 0 1 0 0 0 0 0 0 0 6.634 331916 chr1 166889956 166889956 G T ILDR2 Synonymous SNV P624P 0.001 0 0 0 1 0 0 0 0 0 0 0 15.4 331917 chr8 30922520 30922520 C T rs752693894 WRN Nonsynonymous SNV R149C 0 0.003 0 0 0 1 0 0 0 0 0 0 Uncertain significance 23.6 331918 chr1 171763538 171763538 C T rs138325418 EEF1AKNMT Nonsynonymous SNV R410W 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 331919 chr19 47969508 47969508 C T rs751102582 SLC8A2 Synonymous SNV P51P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.47 331920 chr1 178821864 178821864 A G rs780502740 ANGPTL1 Synonymous SNV N414N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.016 331921 chr19 48622396 48622396 T G LIG1 Nonsynonymous SNV K745Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.771 331922 chr19 48685775 48685775 C G ZSWIM9 Synonymous SNV L113L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 331923 chr1 181546919 181546919 G A rs751409680 CACNA1E Nonsynonymous SNV G177E 0.001 0 0 0 1 0 0 0 0 0 0 0 32 331924 chr8 8175840 8175840 T C rs767246896 PRAG1 Nonsynonymous SNV N1349D 0 0.003 0 0 0 1 0 0 0 0 0 0 26.8 331925 chr1 197482045 197482045 A C DENND1B Synonymous SNV A518A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.02 331926 chr9 110249474 110249575 CTAGGGGTGAAGAAGGTGGGGTGAGCATCATCCCGTGTGTCCCGAAGTGGGGCCAGCACACACAGGGCTCCCCAGCCCGAGCTACAAATCCCCGGGACTGAC - KLF4 G367_L400del 0 0.003 0 0 0 1 0 0 0 0 0 0 331927 chr9 112918631 112918631 C T rs780584164 PALM2AKAP2 Nonsynonymous SNV P868S 0 0.003 0 0 0 1 0 0 0 0 0 0 29.3 331928 chr19 52942571 52942571 C T rs767860348 ZNF534 Nonsynonymous SNV R592C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 331929 chr1 205238768 205238768 - CCAGCG rs761943281 TMCC2 S260_S261insAS 0.001 0 0 0 1 0 0 0 0 0 0 0 331930 chr19 53761990 53761990 C G rs200696448 VN1R2 Nonsynonymous SNV P121R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.957 331931 chr1 206320308 206320308 G T rs376548326 CTSE Nonsynonymous SNV D76Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 331932 chr19 53855823 53855823 A G ZNF845 Nonsynonymous SNV E632G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 331933 chr1 225465179 225465179 G A rs531815515 DNAH14 Nonsynonymous SNV R2749Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 331934 chr19 58355674 58355674 C T rs778531852 ZNF587B Synonymous SNV T391T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.644 331935 chr19 58453447 58453447 T C rs749275630 ZNF256 Synonymous SNV E243E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.542 331936 chr1 229768166 229768166 A G rs758196309 URB2 Nonsynonymous SNV I93V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 331937 chr19 6750547 6750547 G C rs146694645 TRIP10 Nonsynonymous SNV E464D 0 0 0.007 0 0 0 0 2 0 0 1 0 10.87 331938 chr19 7975237 7975237 C T rs759108043 MAP2K7 Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.23 331939 chr12 103695961 103695961 G T rs200236535 C12orf42 Synonymous SNV P336P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.604 331940 chr19 8398632 8398632 C T KANK3 Synonymous SNV R565R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.08 331941 chr12 106734704 106734704 G A rs200632958 TCP11L2 Nonsynonymous SNV E415K 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 331942 chr1 246922343 246922343 A G rs142346609 SCCPDH Nonsynonymous SNV I235V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.009 331943 chr9 139333727 139333727 C T rs1033200510 INPP5E Nonsynonymous SNV A49T 0 0.003 0 0 0 1 0 0 0 0 0 0 6.268 331944 chr19 9077397 9077397 G A rs960521918 MUC16 Nonsynonymous SNV S3350F 0 0 0.003 0 0 0 0 1 0 0 0 0 6.707 331945 chr12 11420896 11420958 GGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCT - PRB3 P81_G101del 0.001 0 0 0 1 0 0 0 0 0 0 0 331946 chr2 3461443 3461443 G A rs777641249 TRAPPC12 Nonsynonymous SNV V528M 0.001 0 0 0 1 0 0 0 0 0 0 0 8.324 331947 chr1 109242529 109242529 C A rs767920186 PRPF38B Synonymous SNV R365R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 331948 chr9 18681880 18681880 C A rs150468859 ADAMTSL1 Nonsynonymous SNV T471K 0 0.003 0 0 0 1 0 0 0 0 0 0 28.7 331949 chr9 2039779 2039779 - CAGCAGCAG SMARCA2 Q238_P239insQQQ 0 0.003 0 0 0 1 0 0 0 0 0 0 331950 chr12 121600317 121600317 C T rs61745024 P2RX7 Nonsynonymous SNV A176V 0.001 0 0 0 1 0 0 0 0 0 0 0 19.64 331951 chr1 111969203 111969203 G A rs182874953 OVGP1 Nonsynonymous SNV A39V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 331952 chr12 122405980 122405980 C T rs747905178 WDR66 Synonymous SNV N892N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.33 331953 chr12 122845615 122845615 A G rs775992825 CLIP1 Nonsynonymous SNV V299A 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 331954 chr12 123444402 123444402 G T rs370501436 ABCB9 Synonymous SNV L127L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.005 331955 chr1 120458783 120458783 C T rs139052054 NOTCH2 Nonsynonymous SNV A2188T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 10.04 331956 chr1 12316417 12316417 C T rs754181687 VPS13D Nonsynonymous SNV R233C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 331957 chr2 27670477 27670477 C T rs746340772 IFT172 Nonsynonymous SNV E1522K 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 331958 chr9 6328927 6328927 G A rs972643916 TPD52L3 Nonsynonymous SNV G111D 0 0.003 0 0 0 1 0 0 0 0 0 0 0.014 331959 chr1 146727553 146727553 C T rs201680696 CHD1L Nonsynonymous SNV R45C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.93 331960 chr1 150476879 150476879 A G TARS2 Synonymous SNV Q432Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.147 331961 chr1 150530554 150530554 C T rs149017342 ADAMTSL4 Nonsynonymous SNV R771W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 331962 chr2 36726440 36726440 A G CRIM1 Nonsynonymous SNV N484S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.91 331963 chr2 38224579 38224579 T G rs149138123 RMDN2 Nonsynonymous SNV I177M 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 331964 chr1 152275681 152275681 T G FLG Nonsynonymous SNV Q3894P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 331965 chr1 15438968 15438968 C A KAZN Synonymous SNV G698G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 331966 chr1 154516544 154516544 C T rs368379318 TDRD10 Synonymous SNV I203I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.06 331967 chr2 50149331 50149331 C A rs143495349 NRXN1 Synonymous SNV R60R 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.44 331968 chr2 55130245 55130245 T G rs974529371 EML6 Nonsynonymous SNV S1063R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 331969 chr1 156212942 156212942 G A rs756750489 BGLAP Nonsynonymous SNV G98S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 331970 chr1 156236068 156236068 G A rs143804151 SMG5 Synonymous SNV F407F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 331971 chr1 157105385 157105385 G A rs746132481 ETV3 Synonymous SNV I54I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 331972 chr1 158813081 158813081 T C rs148953771 MNDA Nonsynonymous SNV I93T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 331973 chr11 83344364 83344364 G A rs761605010 DLG2 Synonymous SNV Y402Y 0.001 0 0 0 1 0 0 0 0 0 0 0 8.615 331974 chr1 159038369 159038369 G A AIM2 Nonsynonymous SNV P24S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.713 331975 chr2 85618065 85618065 G A rs564403550 ELMOD3 Nonsynonymous SNV E376K 0.001 0 0 0 1 0 0 0 0 0 0 0 1.34 331976 chr2 111551661 111551661 A G rs773367617 ACOXL Synonymous SNV K85K 0.001 0 0 0 1 0 0 0 0 0 0 0 9.181 331977 chr12 109671578 109671578 T G rs751876382 ACACB Nonsynonymous SNV F1389V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 331978 chr2 128393417 128393417 A G rs754074181 MYO7B Nonsynonymous SNV K1955E 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 331979 chr2 136610471 136610471 G T MCM6 Synonymous SNV A547A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.901 331980 chr5 112346498 112346498 G C DCP2 Nonsynonymous SNV E330Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 331981 chr2 160623802 160623802 G A MARCHF7 Nonsynonymous SNV R616K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.282 331982 chr2 160706527 160706527 T C LY75, LY75-CD302 Synonymous SNV P1038P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.026 331983 chr1 205632683 205632683 C T SLC45A3 Nonsynonymous SNV R79H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.876 331984 chr1 212118132 212118132 G C rs139927041 INTS7 Nonsynonymous SNV D816E 0 0 0.003 0 0 0 0 1 0 0 0 0 21 331985 chr1 21585328 21585328 C G ECE1 Nonsynonymous SNV G195A 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 331986 chr2 179500906 179500906 A G rs746036347 TTN Synonymous SNV L4733L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.737 331987 chr1 22151092 22151092 C T rs138672955 HSPG2 Nonsynonymous SNV E4229K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 331988 chr1 228494208 228494208 A G rs367928931 OBSCN Nonsynonymous SNV N3932S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 331989 chr2 198380816 198380816 C A MOB4 Synonymous SNV V2V 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 331990 chr2 202355964 202355964 G A rs772877043 C2CD6 Synonymous SNV P1700P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.079 331991 chr14 105179789 105179789 G C rs768809327 INF2 Nonsynonymous SNV K962N 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 331992 chr1 27690804 27690804 G A rs201426835 MAP3K6 Nonsynonymous SNV R188W 0 0 0.003 0 0 0 0 1 0 0 0 0 23 331993 chr1 28897730 28897730 T G TRNAU1AP Stop gain Y191X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 331994 chr2 232458840 232458840 A G rs763437310 TEX44 Nonsynonymous SNV N393S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 331995 chr1 35870639 35870639 A G rs201516168 ZMYM4 Nonsynonymous SNV I858V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.055 331996 chr1 38348483 38348483 T C INPP5B Nonsynonymous SNV D312G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 331997 chr14 23249211 23249211 T G rs146945921 SLC7A7 Synonymous SNV V183V 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 9.282 331998 chr1 47149053 47149053 A G EFCAB14 Nonsynonymous SNV F411L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 331999 chr2 242684261 242684261 C A D2HGDH Synonymous SNV P140P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.02 332000 chr3 2787338 2787338 G C rs116041691 CNTN4 Synonymous SNV S105S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.09 332001 chr1 5923976 5923976 G A rs374146357 NPHP4 Synonymous SNV L860L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.655 332002 chr1 62939753 62939753 A C rs749566422 DOCK7 Nonsynonymous SNV L1996V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.3 332003 chr1 6653462 6653462 C T rs772932433 KLHL21 Nonsynonymous SNV R586Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 332004 chr3 25502722 25502722 C T RARB Nonsynonymous SNV P66S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 332005 chr1 76253607 76253607 C T rs189490979 SNORD45A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 332006 chr14 64676229 64676229 C T rs750351980 SYNE2 Nonsynonymous SNV T6158M 0.001 0 0 0 1 0 0 0 0 0 0 0 27 332007 chr13 23913252 23913252 A G rs771762428 SACS Nonsynonymous SNV I1441T 0.001 0 0 0 1 0 0 0 0 0 0 0 16.98 332008 chr3 44938299 44938299 G A rs778372647 TGM4 Nonsynonymous SNV M216I 0.001 0 0 0 1 0 0 0 0 0 0 0 2.065 332009 chr3 45557713 45557713 G T rs139111439 LARS2 Synonymous SNV R663R 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 7.95 332010 chr3 46414580 46414580 A T rs142829420 CCR5 Nonsynonymous SNV S63C 0.001 0 0 0 1 0 0 0 0 0 0 0 13.59 332011 chr14 92477355 92477355 T C rs142579179 TRIP11 Nonsynonymous SNV E429G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 26.6 332012 chr14 92537379 92537379 - GCTGCTGCTGCTGCTGCTGCTGCTGC ATXN3 Frameshift insertion T15Afs*74 0.001 0 0 0 1 0 0 0 0 0 0 0 332013 chr3 48677545 48677545 G A rs373014167 CELSR3 Nonsynonymous SNV P3158L 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 332014 chr20 1532554 1532554 T C rs763229415 SIRPD Synonymous SNV T68T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.32 332015 chr3 51387787 51387787 C A DOCK3 Synonymous SNV V1357V 0.001 0 0 0 1 0 0 0 0 0 0 0 18.67 332016 chr3 51418921 51418921 A G rs369440132 DOCK3 Synonymous SNV P2008P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.647 332017 chr20 20322532 20322532 G T rs201933591 CFAP61 Nonsynonymous SNV R1160S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 332018 chr17 76817088 76817088 G A rs201086503 USP36 Synonymous SNV V271V 0.001 0 0 0 1 0 0 0 0 0 0 0 14.12 332019 chr20 2592841 2592841 C T rs199532232 TMC2 Nonsynonymous SNV A533V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 332020 chr15 35830622 35830622 G A rs781048720 DPH6 Synonymous SNV H55H 0.001 0 0 0 1 0 0 0 0 0 0 0 7.953 332021 chr20 43703741 43703741 G A rs746946767 STK4 Nonsynonymous SNV R463Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 332022 chr4 89338699 89338699 G A HERC6 Nonsynonymous SNV A561T 0.001 0 0 0 1 0 0 0 0 0 0 0 8.669 332023 chr3 119887107 119887107 G A rs113424982 GPR156 Nonsynonymous SNV P402L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.994 332024 chr20 590744 590744 C T TCF15 Synonymous SNV A46A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 332025 chr3 123452659 123452661 ACA - rs771815695 MYLK V219del 0.001 0 0 0 1 0 0 0 0 0 0 0 332026 chr3 134278150 134278150 C T rs551976358 CEP63 Nonsynonymous SNV S565F 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 332027 chr21 26961171 26961171 C T rs199510789 MRPL39 Synonymous SNV K315K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 332028 chr3 150128034 150128034 G T TSC22D2 Synonymous SNV A299A 0.001 0 0 0 1 0 0 0 0 0 0 0 5.094 332029 chr3 151171420 151171420 C G rs138756085 IGSF10 Nonsynonymous SNV R156P 0.001 0 0 0 1 0 0 0 0 0 0 0 32 332030 chr21 39671259 39671259 A G KCNJ15 Nonsynonymous SNV R26G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.73 332031 chr21 47558486 47558486 G A FTCD Nonsynonymous SNV S460L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.571 332032 chr3 189456529 189456529 G A rs752080701 TP63 Nonsynonymous SNV R97H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 21.7 332033 chr16 1395858 1395858 C G rs752441394 BAIAP3 Synonymous SNV A689A 0.001 0 0 0 1 0 0 0 0 0 0 0 7.062 332034 chr16 1574838 1574838 G A rs142342085 IFT140 Nonsynonymous SNV R982W 0.001 0 0 0 1 0 0 0 0 0 0 0 28.4 332035 chr22 24562773 24562773 T A CABIN1 Nonsynonymous SNV V1675E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 332036 chr22 24622110 24622110 G A rs755653164 GGT5 Nonsynonymous SNV T311M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 332037 chr22 26239784 26239784 C A rs144564568 MYO18B Nonsynonymous SNV D1098E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 29.5 332038 chr16 20327284 20327284 G A rs772040937 GP2 Nonsynonymous SNV R352W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 332039 chr4 3240183 3240183 A G HTT Synonymous SNV K2967K 0.001 0 0 0 1 0 0 0 0 0 0 0 4.334 332040 chr22 31484741 31484741 T C SMTN Synonymous SNV R173R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.268 332041 chr22 31924843 31924843 G T rs184362539 SFI1 Nonsynonymous SNV R87L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.49 332042 chr15 40462857 40462857 G A BUB1B Nonsynonymous SNV R120Q 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 33 332043 chr22 37581385 37581385 G A rs761827670 C1QTNF6 Synonymous SNV S54S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 332044 chr16 30768944 30768944 C T rs576593404 CCDC189 Synonymous SNV K283K 0.001 0 0 0 1 0 0 0 0 0 0 0 12.89 332045 chr15 42035256 42035256 G A rs374543045 MGA Nonsynonymous SNV V1700M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.1 332046 chr15 42058874 42058874 G A MGA Nonsynonymous SNV S2656N 0.001 0 0 0 1 0 0 0 0 0 0 0 14.57 332047 chr22 41077150 41077150 C T rs200659135 MCHR1 Synonymous SNV L163L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 332048 chr22 41318454 41318454 G C rs374128745 XPNPEP3 Synonymous SNV L391L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.169 332049 chr22 41574066 41574066 C T rs752110014 EP300 Synonymous SNV T2091T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.591 332050 chr19 19166147 19166147 G A rs374945143 ARMC6 Nonsynonymous SNV R341H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.625 332051 chr15 43023503 43023503 T C rs148074362 CDAN1 Nonsynonymous SNV D589G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 28.4 332052 chr15 43818907 43818907 G A rs759224080 MAP1A Nonsynonymous SNV A1746T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 332053 chr15 44068030 44068030 C T rs142769297 ELL3 Nonsynonymous SNV V125I 0.001 0 0 0 1 0 0 0 0 0 0 0 4.698 332054 chr16 4411052 4411052 G A rs139750538 CORO7, CORO7-PAM16 Synonymous SNV H518H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.406 332055 chr15 53998261 53998261 C T rs549180453 WDR72 Nonsynonymous SNV R322H 0.001 0 0 0 1 0 0 0 0 0 0 0 1.501 332056 chr2 10186379 10186379 G A rs765203290 KLF11 Nonsynonymous SNV E32K 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332057 chr19 3578074 3578074 A C HMG20B Nonsynonymous SNV I302L 0.001 0 0 0 1 0 0 0 0 0 0 0 20.7 332058 chr4 77091123 77091123 A G rs147324129 SCARB2 Nonsynonymous SNV M194T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 23.2 332059 chr15 65312589 65312589 A T rs188461284 MTFMT Nonsynonymous SNV L223M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 25.1 332060 chr2 111753534 111753534 C T rs150734728 ACOXL Nonsynonymous SNV R412C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 332061 chr16 68012447 68012447 C T rs757782418 DPEP3 Nonsynonymous SNV R166H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332062 chr19 3633459 3633459 - G rs758861156 PIP5K1C Frameshift insertion A661Gfs*81 0.001 0 0 0 1 0 0 0 0 0 0 0 332063 chr2 114020962 114020962 C A PAX8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 7.227 332064 chr16 74335541 74335541 T C rs757396313 PSMD7 Synonymous SNV C116C 0.001 0 0 0 1 0 0 0 0 0 0 0 0.942 332065 chr16 74526918 74526918 G C rs754735513 GLG1 Nonsynonymous SNV P380A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.39 332066 chr2 131672585 131672585 G T rs977662897 ARHGEF4 Nonsynonymous SNV V356F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.336 332067 chr2 141093334 141093334 G A rs139868893 LRP1B Nonsynonymous SNV S3989F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 332068 chr4 111452435 111452435 T A rs199944437 ENPEP 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 332069 chr2 151328186 151328186 T C rs760650944 RND3 Synonymous SNV L146L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 332070 chr2 160027047 160027047 C A rs752517351 TANC1 Nonsynonymous SNV P160H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 332071 chr2 160086254 160086254 C T rs201595327 TANC1 Synonymous SNV S1238S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.209 332072 chr16 87637720 87637720 C G rs899720810 JPH3 Synonymous SNV V136V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.5 332073 chr2 1657540 1657540 T C rs773445177 PXDN Nonsynonymous SNV N655S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.437 332074 chr4 139101844 139101844 C A SLC7A11 Nonsynonymous SNV G406V 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332075 chr2 168102365 168102365 A G XIRP2 Nonsynonymous SNV K1266R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 332076 chr4 141832487 141832487 C A RNF150 Nonsynonymous SNV D337Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 332077 chr2 172187096 172187096 A C rs745951471 METTL8 Nonsynonymous SNV F233C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 332078 chr2 173339766 173339766 C A rs765521638 ITGA6 Nonsynonymous SNV P366T 0 0 0.003 0 0 0 0 1 0 0 0 0 30 332079 chr2 176996269 176996269 G A rs768168235 HOXD8 Nonsynonymous SNV V267M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.38 332080 chr4 159569665 159569665 G A rs757231693 RXFP1 Nonsynonymous SNV A543T 0.001 0 0 0 1 0 0 0 0 0 0 0 30 332081 chr4 159593620 159593620 G A rs373776053 ETFDH Synonymous SNV P4P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 10.55 332082 chr16 89865626 89865626 A G FANCA Synonymous SNV L249L 0.001 0 0 0 1 0 0 0 0 0 0 0 0.041 332083 chr4 166913977 166913977 T C rs929911038 TLL1 Nonsynonymous SNV M101T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.778 332084 chr4 185038102 185038102 C T ENPP6 Synonymous SNV E254E 0.001 0 0 0 1 0 0 0 0 0 0 0 12.37 332085 chr4 187455385 187455385 C A MTNR1A Nonsynonymous SNV D171Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 332086 chr2 201440182 201440182 A G SGO2 Nonsynonymous SNV E1258G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.749 332087 chr2 202617965 202617965 C T rs34122078 ALS2 Synonymous SNV R547R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.03 332088 chr2 203949249 203949249 G T NBEAL1 Nonsynonymous SNV S352I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 332089 chr2 203991439 203991439 G A rs748119378 NBEAL1 Nonsynonymous SNV G1020S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 332090 chr2 204000504 204000504 A T NBEAL1 Nonsynonymous SNV E1277D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 332091 chr5 11018101 11018101 C T rs373428577 CTNND2 Synonymous SNV R686R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.19 332092 chr5 13721265 13721265 T G rs149580135 DNAH5 Synonymous SNV P4041P 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.664 332093 chr5 13814793 13814793 T C rs777962194 DNAH5 Nonsynonymous SNV N2384S 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 25 332094 chr5 14508068 14508068 A G rs143213427 TRIO Nonsynonymous SNV N2944S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 1.579 332095 chr5 14712962 14712962 - T LOC100130744 0.001 0 0 0 1 0 0 0 0 0 0 0 332096 chr5 31526816 31526816 C A DROSHA Nonsynonymous SNV R75L 0.001 0 0 0 1 0 0 0 0 0 0 0 25 332097 chr2 215884362 215884362 T G rs368135271 ABCA12 Nonsynonymous SNV E164D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.245 332098 chr5 36241861 36241861 G T NADK2 Nonsynonymous SNV R14S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.39 332099 chr2 218759745 218759745 G A rs140507959 TNS1 Nonsynonymous SNV T68M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 332100 chr2 218954027 218954027 G A rs749470049 RUFY4 Nonsynonymous SNV E519K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 332101 chr16 29818142 29818142 C T rs767684774 MAZ Synonymous SNV N40N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.13 332102 chr2 219878300 219878300 A G CFAP65 Nonsynonymous SNV F1263L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 332103 chr16 3191030 3191030 C T ZNF213 Synonymous SNV F354F 0.001 0 0 0 1 0 0 0 0 0 0 0 14.6 332104 chr5 59189086 59189086 C A PDE4D Nonsynonymous SNV D122Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 332105 chr2 225681355 225681355 T C rs781654444 DOCK10 Nonsynonymous SNV I1109V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.37 332106 chr2 231775493 231775493 T G GPR55 Nonsynonymous SNV Y62S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 332107 chr5 80548604 80548604 A G rs144313442 CKMT2 Synonymous SNV T81T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.006 332108 chr2 238976709 238976709 G T rs141888719 SCLY Nonsynonymous SNV R69I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 332109 chr17 42114415 42114415 T C LSM12 Nonsynonymous SNV H184R 0.001 0 0 0 1 0 0 0 0 0 0 0 3.697 332110 chr5 101834286 101834286 G A rs781570432 SLCO6A1 Nonsynonymous SNV P88L 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 332111 chr5 114611204 114611204 C A rs191617313 CCDC112 Nonsynonymous SNV E209D 0.001 0 0 0 1 0 0 0 0 0 0 0 14.76 332112 chr5 121411135 121411135 C A LOX Nonsynonymous SNV R51L 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 332113 chr5 140011552 140011552 G C rs77083413 CD14 Synonymous SNV P339P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.359 332114 chr5 140182060 140182060 T C rs17844258 PCDHA3 Synonymous SNV T426T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.043 332115 chr5 140182063 140182063 T A rs139512124 PCDHA3 Synonymous SNV A427A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.556 332116 chr5 140572456 140572456 G T rs149648241 PCDHB10 Nonsynonymous SNV D111Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 332117 chr5 140731933 140731933 G T rs186670703 PCDHGB1 Synonymous SNV A702A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.02 332118 chr5 140789404 140789404 C G rs182654621 PCDHGB6 Nonsynonymous SNV N545K 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 332119 chr2 61760951 61760951 A G XPO1 Synonymous SNV L28L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.856 332120 chr2 71297970 71297970 G A NAGK 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 332121 chr17 64637571 64637571 G A rs61762396 PRKCA Synonymous SNV G129G 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 9.729 332122 chr5 149216299 149216299 C T rs146710258 PPARGC1B Nonsynonymous SNV R722C 0.001 0 0 0 1 0 0 0 0 0 0 0 28.5 332123 chr5 149324122 149324122 C T PDE6A Nonsynonymous SNV A39T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.36 332124 chr5 149456882 149456882 G A rs764525025 CSF1R Synonymous SNV N282N 0.001 0 0 0 1 0 0 0 0 0 0 0 4.757 332125 chr2 73678084 73678084 C T rs794727926 ALMS1 Nonsynonymous SNV S1476L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.3 332126 chr17 65362603 65362603 C T PSMD12 Synonymous SNV G11G 0.001 0 0 0 1 0 0 0 0 0 0 0 14.33 332127 chr2 85361495 85361495 G T TCF7L1 Synonymous SNV G121G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 332128 chr3 107647012 107647012 C A rs202220654 LINC00636 0 0 0.003 0 0 0 0 1 0 0 0 0 8.989 332129 chr3 108572717 108572717 T C rs144914910 TRAT1 Nonsynonymous SNV I148T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 332130 chr5 169805969 169805969 G A rs142049246 KCNMB1 Synonymous SNV Y105Y 0.001 0 0 0 1 0 0 0 0 0 0 0 5.014 332131 chr5 171482634 171482634 G A rs752921971 STK10 Synonymous SNV N828N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.099 332132 chr5 176915081 176915081 C T rs745788482 PDLIM7 Synonymous SNV K346K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.05 332133 chr17 2234306 2234306 T A TSR1 Nonsynonymous SNV N532Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 332134 chr3 123452844 123452844 C T rs13319347 MYLK Synonymous SNV P157P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.11 332135 chr3 126194083 126194083 T C rs200817107 ZXDC Nonsynonymous SNV K209R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 332136 chr6 5369087 5369087 A G FARS2 Nonsynonymous SNV E95G 0.001 0 0 0 1 0 0 0 0 0 0 0 23 332137 chr3 12963676 12963676 C T rs202170507 IQSEC1 Synonymous SNV A599A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.16 332138 chr6 17130968 17130968 A G rs778686761 STMND1 Synonymous SNV P229P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.132 332139 chr3 132249908 132249908 A G rs780606987 DNAJC13 Nonsynonymous SNV I2198V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 332140 chr17 3495560 3495560 G C TRPV1 Nonsynonymous SNV P29A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.03 332141 chr3 142499699 142499699 G A rs766341311 TRPC1 Nonsynonymous SNV R229Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 332142 chr3 146233850 146233850 T C rs764419890 PLSCR1 Synonymous SNV Q232Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 332143 chr3 149089620 149089620 T G TM4SF1 Nonsynonymous SNV T150P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 332144 chr6 35773858 35773858 G - LHFPL5 A138Pfs*4 0.001 0 0 0 1 0 0 0 0 0 0 0 332145 chr6 36106657 36106657 T G rs150922772 MAPK13 Synonymous SNV A281A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 332146 chr6 42974209 42974209 G A rs774008462 PPP2R5D Synonymous SNV P38P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 332147 chr17 40729561 40729561 C T rs1032296528 PSMC3IP Nonsynonymous SNV R18K 0.001 0 0 0 1 0 0 0 0 0 0 0 10.96 332148 chr6 49754553 49754553 G T PGK2 Synonymous SNV V116V 0.001 0 0 0 1 0 0 0 0 0 0 0 2.117 332149 chr17 45421657 45421657 C T rs754532197 EFCAB13 Nonsynonymous SNV R145W 0.001 0 0 0 1 0 0 0 0 0 0 0 8.844 332150 chr17 4804361 4804361 G A rs150133823 CHRNE Synonymous SNV F242F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.3 332151 chr17 48625679 48625679 C T rs200398203 SPATA20 Nonsynonymous SNV T38M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 332152 chr3 32933129 32933129 G A rs75763149 TRIM71 Synonymous SNV A811A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 3.053 332153 chr17 5347801 5347801 G A rs147414979 DHX33 Synonymous SNV D443D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.97 332154 chr6 117662725 117662725 T G ROS1 Nonsynonymous SNV E1580D 0.001 0 0 0 1 0 0 0 0 0 0 0 21.2 332155 chr6 125584028 125584028 C G rs368984698 TPD52L1 Nonsynonymous SNV L166V 0.001 0 0 0 1 0 0 0 0 0 0 0 31 332156 chr3 48828010 48828010 G A rs888103713 PRKAR2A Synonymous SNV C134C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 332157 chr19 12125832 12125832 G C ZNF433 Nonsynonymous SNV P617R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 332158 chr17 7139747 7139747 C G rs199998155 PHF23 Nonsynonymous SNV V100L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 332159 chr3 49691707 49691707 A C BSN Nonsynonymous SNV H1573P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 332160 chr6 146865153 146865153 T C rs746265931 RAB32 Nonsynonymous SNV L49P 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 332161 chr3 52255447 52255447 C T rs201773280 TLR9 Nonsynonymous SNV R962H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 332162 chr6 158487606 158487606 G A rs200463424 SYNJ2 Synonymous SNV T315T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.83 332163 chr1 203144738 203144738 G A rs2791721 MYBPH Nonsynonymous SNV A49V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.663 332164 chr17 74944043 74944043 C T rs556313802 MGAT5B Synonymous SNV P694P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.928 332165 chr6 165715153 165715153 G A rs140500230 C6orf118 Nonsynonymous SNV R220C 0.001 0 0 0 1 0 0 0 0 0 0 0 10.38 332166 chr17 76969123 76969123 C T rs201343603 LGALS3BP Stop gain W186X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332167 chr4 103514708 103514708 C T NFKB1 Nonsynonymous SNV T397I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.3 332168 chr4 113539889 113539889 T C ZGRF1 Nonsynonymous SNV N437D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.263 332169 chr17 79205712 79205712 C T rs368701464 TEPSIN Synonymous SNV S212S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.76 332170 chr4 119154274 119154274 C T NDST3 Nonsynonymous SNV H643Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 332171 chr4 123329086 123329086 A G rs746305813 ADAD1 Nonsynonymous SNV I250V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.232 332172 chr17 79980714 79980714 G T rs140085467 CENPX Synonymous SNV S8S 0.001 0 0 0 1 0 0 0 0 0 0 0 9.331 332173 chr17 80041173 80041173 G A rs144212251 FASN Nonsynonymous SNV R1824W 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 27.3 332174 chr7 21609758 21609758 G A DNAH11 Synonymous SNV V422V 0.001 0 0 0 1 0 0 0 0 0 0 0 8.96 332175 chr7 21789392 21789392 G A rs72657369 DNAH11 Nonsynonymous SNV V2924M 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.26 332176 chr1 225288502 225288502 T C rs556552320 DNAH14 Synonymous SNV A1261A 0.001 0 0 0 1 0 0 0 0 0 0 0 4.248 332177 chr4 144617922 144617922 C T FREM3 Nonsynonymous SNV D1303N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.12 332178 chr19 3013678 3013678 C T rs201296186 TLE2 Nonsynonymous SNV E166K 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 332179 chr4 148768311 148768311 G A rs776619814 ARHGAP10 Nonsynonymous SNV V108I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 332180 chr1 228482070 228482070 G A rs201429246 OBSCN Synonymous SNV S3783S 0.001 0 0 0 1 0 0 0 0 0 0 0 7.989 332181 chr4 169300952 169300952 C T rs765619180 DDX60L Synonymous SNV L1382L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.57 332182 chr1 236192908 236192908 C T rs145201003 NID1 Synonymous SNV P560P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.01 332183 chr4 187003815 187003815 G A rs574415152 TLR3 Synonymous SNV R325R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.32 332184 chr19 39200905 39200905 A G ACTN4 Nonsynonymous SNV N248D 0.001 0 0 0 1 0 0 0 0 0 0 0 18.56 332185 chr8 100454799 100454799 G A rs753370533 VPS13B Synonymous SNV G1127G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 332186 chr18 71920855 71920855 G A rs2276275 CYB5A Synonymous SNV V113V 0.001 0 0 0 1 0 0 0 0 0 0 0 5.174 332187 chr4 57307931 57307931 C T rs370569487 PAICS Nonsynonymous SNV T40I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 332188 chr7 100224431 100224431 C G TFR2 Nonsynonymous SNV E526D 0.001 0 0 0 1 0 0 0 0 0 0 0 5.44 332189 chr4 7016261 7016261 T C rs146791527 TBC1D14 Synonymous SNV T298T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.337 332190 chr4 7062909 7062909 A G rs142111496 GRPEL1 Synonymous SNV L112L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.757 332191 chr4 77662254 77662254 C T rs752962385 SHROOM3 Synonymous SNV S976S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 332192 chr19 46544203 46544203 A G IGFL4 Synonymous SNV S6S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.111 332193 chr19 47979915 47979915 G A rs73940855 KPTN Synonymous SNV H296H 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 2.875 332194 chr7 104783738 104783738 T C SRPK2 Nonsynonymous SNV K274E 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 332195 chr7 107329563 107329563 T C rs758298100 SLC26A4 Nonsynonymous SNV I356T 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 332196 chr4 95173836 95173836 C T rs765805221 SMARCAD1 Nonsynonymous SNV P320L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 332197 chr7 117307083 117307083 C G rs121909043 CFTR Stop gain S1455X 0.001 0 0 0 1 0 0 0 0 0 0 0 Pathogenic/Likely pathogenic 41 332198 chr7 128494726 128494726 C T rs771037016 FLNC Synonymous SNV A2296A 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 16.53 332199 chr7 128802339 128802339 G T TSPAN33 Stop gain E89X 0.001 0 0 0 1 0 0 0 0 0 0 0 44 332200 chr19 50792847 50792847 G A rs777365263 MYH14 Nonsynonymous SNV R1595H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332201 chr19 51052021 51052021 G A LRRC4B Synonymous SNV L25L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.345 332202 chr7 138739995 138739995 G A rs141029907 ZC3HAV1 Nonsynonymous SNV R837C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.28 332203 chr7 139226853 139226853 G A rs61736120 CLEC2L Synonymous SNV P148P 0.001 0 0 0 1 0 0 0 0 0 0 0 14.02 332204 chr7 149133742 149133742 C T ZNF777 Synonymous SNV T421T 0.001 0 0 0 1 0 0 0 0 0 0 0 17.09 332205 chr19 19758333 19758333 C T rs749319067 ATP13A1 Nonsynonymous SNV R933H 0.001 0 0 0 1 0 0 0 0 0 0 0 26.9 332206 chr5 140794987 140794987 G A PCDHGA10 Nonsynonymous SNV G749R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332207 chr7 154587644 154587644 C T rs569894685 DPP6 Synonymous SNV P386P 0.001 0 0 0 1 0 0 0 0 0 0 0 5.596 332208 chr8 3245189 3245189 G T CSMD1 Stop gain S870X 0.001 0 0 0 1 0 0 0 0 0 0 0 41 332209 chr8 10557897 10557897 C A C8orf74 Synonymous SNV P267P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 332210 chr8 12957498 12957498 T C rs139243841 DLC1 Nonsynonymous SNV N272S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 332211 chr5 167855138 167855138 C T rs116010648 WWC1 Synonymous SNV S637S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.53 332212 chr19 39406872 39406872 G A rs766107433 SARS2 Nonsynonymous SNV R415C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 332213 chr8 33356124 33356124 G A rs761686068 MAK16 Nonsynonymous SNV V294M 0.001 0 0.003 0 1 0 0 1 0 0 0 0 0.216 332214 chr8 68211567 68211567 C A ARFGEF1 Nonsynonymous SNV L112F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 332215 chr5 43161962 43161962 A G rs569762631 ZNF131 Nonsynonymous SNV H49R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 332216 chr5 44812095 44812095 C T rs61753790 MRPS30 Nonsynonymous SNV R276W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332217 chr8 87951852 87951852 C A rs367898641 CNBD1 Nonsynonymous SNV Q101K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.002 332218 chr5 54642899 54642899 G A MTREX Synonymous SNV V389V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 332219 chr5 56219792 56219792 A G rs202247682 MIER3 Synonymous SNV A339A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.699 332220 chr5 6372659 6372659 G C rs745716145 MED10 Nonsynonymous SNV A122G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 332221 chr8 101733763 101733763 C A PABPC1 Nonsynonymous SNV D17Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.3 332222 chr8 109215215 109215215 T G EIF3E Synonymous SNV S432S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.58 332223 chr5 73930964 73930964 G A rs144437936 ENC1 Synonymous SNV F376F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.099 332224 chr8 121309781 121309781 C G COL14A1 Nonsynonymous SNV S1423C 0.001 0 0 0 1 0 0 0 0 0 0 0 23.8 332225 chr20 44048822 44048822 C G PIGT Stop gain S141X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332226 chr5 79498783 79498783 G A rs774707058 SERINC5 Synonymous SNV Y39Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.42 332227 chr20 44575003 44575003 C T rs35174692 PCIF1 Synonymous SNV D531D 0.001 0 0 0 1 0 0 0 0 0 0 0 15.96 332228 chr5 79837650 79837652 AAG - rs749921216 FAM151B *277* 0 0 0.003 0 0 0 0 1 0 0 0 0 332229 chr8 141460930 141460930 C T rs149504969 TRAPPC9 Synonymous SNV P181P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.84 332230 chr6 108843557 108843557 C T rs186962719 AFG1L Nonsynonymous SNV R412C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332231 chr6 109560552 109560552 G A rs149511785 CCDC162P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.07 332232 chr20 56934746 56934746 G A RAB22A Nonsynonymous SNV R191Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.9 332233 chr6 110763880 110763880 A - SLC22A16 F250Lfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 332234 chr8 144892759 144892759 C T SCRIB Nonsynonymous SNV A474T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 332235 chr1 111730873 111730873 T C rs369639340 DENND2D Nonsynonymous SNV R404G 0.001 0 0 0 1 0 0 0 0 0 0 0 24.8 332236 chr6 126242127 126242127 A T NCOA7 Synonymous SNV T38T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.072 332237 chr6 128404866 128404866 T C rs557168257 PTPRK Synonymous SNV Q394Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 332238 chr1 116233994 116233994 C T rs753066199 VANGL1 Synonymous SNV S521S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.47 332239 chr8 145780958 145780958 C G ARHGAP39 Nonsynonymous SNV Q194H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.043 332240 chr1 145492315 145492315 C T rs782403746 LIX1L Synonymous SNV S179S 0.001 0 0 0 1 0 0 0 0 0 0 0 17.1 332241 chr6 159188474 159188474 G A rs759308651 EZR Nonsynonymous SNV P472L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.313 332242 chr9 33817864 33817864 G T UBE2R2 Nonsynonymous SNV D37Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332243 chr6 24418749 24418749 G A rs141564147 MRS2 Synonymous SNV S300S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 332244 chr6 24454334 24454334 C T rs368586631 GPLD1 Nonsynonymous SNV R415H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 332245 chr6 27100500 27100500 G A HIST1H2BJ Synonymous SNV A10A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.193 332246 chr6 28134587 28134587 G A rs185100489 ZNF192P1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.78 332247 chr9 97062436 97062436 C T rs139876146 ZNF169 Nonsynonymous SNV T8I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.907 332248 chr9 103109301 103109301 T C rs200607155 TEX10 Nonsynonymous SNV I193V 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 332249 chr6 41658799 41658799 C T rs138060440 TFEB Synonymous SNV P65P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 332250 chr6 41710039 41710039 G A rs770005565 PGC Synonymous SNV V212V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.249 332251 chr6 43591728 43591728 G A rs147323043 GTPBP2 Nonsynonymous SNV P305L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332252 chr19 815239 815239 T C rs748160295 PLPPR3 Nonsynonymous SNV N117S 0.001 0 0 0 1 0 0 0 0 0 0 0 21.5 332253 chr6 52938357 52938357 C A rs754758186 FBXO9 Nonsynonymous SNV P67T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 332254 chr9 127622512 127622512 G C rs771414251 RPL35 Nonsynonymous SNV L58V 0.001 0 0 0 1 0 0 0 0 0 0 0 27.8 332255 chr9 130472923 130472923 G A CFAP157 Synonymous SNV E159E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.998 332256 chr19 9868765 9868765 G A rs201287027 ZNF846 Stop gain R201X 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332257 chr9 136231830 136231830 C T rs782758426 SURF4 Synonymous SNV A26A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.59 332258 chr9 138606478 138606478 G T KCNT1 Nonsynonymous SNV D56Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.6 332259 chr7 100680009 100680009 C A MUC17 Nonsynonymous SNV A1771E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.51 332260 chr7 102574794 102574794 C T rs371788242 LRRC17 Nonsynonymous SNV T145M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 332261 chr9 140449867 140449867 C T DPH7 Nonsynonymous SNV G261R 0.001 0 0 0 1 0 0 0 0 0 0 0 0.202 332262 chr7 134130045 134130045 C T rs750121058 AKR1B1 Nonsynonymous SNV D141N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 332263 chr10 18429691 18429691 C A CACNB2 Stop gain S9X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 332264 chr10 43615013 43615013 C T rs577929869 RET Synonymous SNV Y555Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 2.733 332265 chr7 149129486 149129486 G C rs746185675 ZNF777 Nonsynonymous SNV S626C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.485 332266 chr1 22919901 22919901 G A rs376945590 EPHA8 Synonymous SNV P466P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.42 332267 chr10 50533449 50533449 C T rs373216967 C10orf71 Synonymous SNV A953A 0.001 0 0 0 1 0 0 0 0 0 0 0 14.35 332268 chr10 54074802 54074802 C T DKK1 Synonymous SNV C121C 0.001 0 0 0 1 0 0 0 0 0 0 0 16.73 332269 chr10 72520129 72520129 G T ADAMTS14 Synonymous SNV T1064T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.489 332270 chr7 36438874 36438874 C T rs758181302 ANLN Nonsynonymous SNV P120L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 332271 chr10 90435346 90435346 C A LIPF Nonsynonymous SNV R241S 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332272 chr1 17722062 17722062 C T PADI6 Synonymous SNV P507P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.87 332273 chr10 98156950 98156950 C T rs750004312 TLL2 Synonymous SNV A459A 0.001 0 0 0 1 0 0 0 0 0 0 0 19.52 332274 chr1 27660674 27660674 C T rs201078930 TMEM222 Synonymous SNV H147H 0.001 0 0 0 1 0 0 0 0 0 0 0 16.09 332275 chr1 28167627 28167627 C G PPP1R8 Nonsynonymous SNV T125S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.7 332276 chr10 103345880 103345880 C T rs548269958 POLL Nonsynonymous SNV R50H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 332277 chr10 103599521 103599521 G T KCNIP2 Stop gain S26X 0.001 0 0 0 1 0 0 0 0 0 0 0 18.86 332278 chr10 103871294 103871294 C A LDB1 0.001 0 0 0 1 0 0 0 0 0 0 0 24.9 332279 chr10 115364545 115364545 C A NRAP Synonymous SNV A1314A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.91 332280 chr7 97736544 97736544 C T LMTK2 Synonymous SNV L19L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.254 332281 chr10 117853340 117853340 G T GFRA1 Synonymous SNV V175V 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 332282 chr10 134041500 134041500 C G STK32C Nonsynonymous SNV V164L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.2 332283 chr8 121290475 121290475 T - COL14A1 0 0 0.003 0 0 0 0 1 0 0 0 0 332284 chr1 207110638 207110638 C T rs142859826 PIGR Nonsynonymous SNV V283I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.471 332285 chr1 208252666 208252666 G A rs143711247 PLXNA2 Nonsynonymous SNV S842F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 332286 chr8 133764161 133764161 G A rs149569607 TMEM71 Nonsynonymous SNV R62C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332287 chr8 13424866 13424866 G C rs75484711 C8orf48 Synonymous SNV L122L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.706 332288 chr8 134261008 134261008 G A rs528436514 NDRG1 Synonymous SNV R169R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.048 332289 chr2 241404059 241404059 T G GPC1 Nonsynonymous SNV F304V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 332290 chr8 144450687 144450687 C T rs574290879 RHPN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 332291 chr8 144652516 144652516 C T rs377241326 MROH6 Nonsynonymous SNV G314R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 332292 chr1 215822033 215822033 C T rs534656527 USH2A Nonsynonymous SNV A4807T 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 31 332293 chr1 62149158 62149158 T G TM2D1 Synonymous SNV R192R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.82 332294 chr8 1626488 1626488 C T rs751347905 DLGAP2 Synonymous SNV F799F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 332295 chr8 22053069 22053069 C T rs747461095 BMP1 Synonymous SNV Y578Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 332296 chr11 4623556 4623556 C T TRIM68 Synonymous SNV R203R 0.001 0 0 0 1 0 0 0 0 0 0 0 11.46 332297 chr8 28385294 28385294 C T rs17059195 FZD3 Synonymous SNV P339P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 332298 chr1 92467650 92467650 T G rs375378502 BRDT Nonsynonymous SNV S732A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.064 332299 chr8 30945391 30945391 G C rs368413625 WRN Nonsynonymous SNV D511H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 332300 chr8 36766851 36766851 A G rs774264469 KCNU1 Nonsynonymous SNV Y710C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.069 332301 chr8 37720464 37720464 G T rs762659911 RAB11FIP1 Synonymous SNV P633P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.437 332302 chr20 1106213 1106213 C T rs775760080 PSMF1 Nonsynonymous SNV R68W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332303 chr20 1276949 1276949 A G rs751882983 SNPH Synonymous SNV P22P 0.001 0 0 0 1 0 0 0 0 0 0 0 17.75 332304 chr8 86180751 86180751 A G rs778771451 CA13 Synonymous SNV P188P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 332305 chr20 2621790 2621790 T C TMC2 Synonymous SNV P838P 0.001 0 0 0 1 0 0 0 0 0 0 0 1.688 332306 chr1 26360248 26360248 C T rs773849337 EXTL1 Nonsynonymous SNV S527L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.06 332307 chr9 104432667 104432667 G T GRIN3A Nonsynonymous SNV T676K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 332308 chr9 104448929 104448929 T C rs368003556 GRIN3A Nonsynonymous SNV N418S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.783 332309 chr20 3236668 3236668 C T rs767079634 C20orf194 Nonsynonymous SNV R1082Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332310 chr11 14666259 14666259 C A PDE3B Nonsynonymous SNV P213Q 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 332311 chr20 33589102 33589102 C T rs777681035 MYH7B Nonsynonymous SNV L1886F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 332312 chr20 33591006 33591006 G A rs118040773 TRPC4AP Synonymous SNV L779L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.91 332313 chr11 17464325 17464325 C T rs61748766 ABCC8 Synonymous SNV T524T 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign/Likely benign 18.9 332314 chr20 35060933 35060933 C T rs756938520 DLGAP4 Synonymous SNV P271P 0.001 0 0 0 1 0 0 0 0 0 0 0 9.636 332315 chr9 111617847 111617847 C T rs372513303 ACTL7B Nonsynonymous SNV D122N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 332316 chr1 32257965 32257965 C T rs368011381 SPOCD1 Nonsynonymous SNV R431Q 0.001 0 0 0 1 0 0 0 0 0 0 0 18.62 332317 chr20 36784469 36784469 G A rs144476788 TGM2 Synonymous SNV A11A 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 8.49 332318 chr1 3552556 3552556 C T rs113614277 WRAP73 Synonymous SNV E185E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.82 332319 chr11 45248004 45248004 C T rs575457646 PRDM11 Nonsynonymous SNV R610W 0.001 0 0 0 1 0 0 0 0 0 0 0 11.82 332320 chr20 54579189 54579189 G T rs773051164 CBLN4 Synonymous SNV A13A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.53 332321 chr1 46500768 46500768 G A rs780477976 MAST2 Nonsynonymous SNV R1475Q 0.001 0 0 0 1 0 0 0 0 0 0 0 25.8 332322 chr1 47515805 47515805 A G CYP4X1 Nonsynonymous SNV N496D 0.001 0 0 0 1 0 0 0 0 0 0 0 10.65 332323 chr1 50163098 50163098 G C AGBL4 Nonsynonymous SNV R57G 0.001 0 0 0 1 0 0 0 0 0 0 0 28.9 332324 chr9 133275020 133275020 G A HMCN2 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 332325 chr9 135374775 135374775 C T rs61755860 CFAP77 Synonymous SNV N104N 0 0 0.007 0 0 0 0 2 0 0 0 0 14.06 332326 chr9 138662249 138662249 C T rs373520472 KCNT1 Synonymous SNV Y530Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.76 332327 chr1 62979143 62979143 G T DOCK7 Synonymous SNV L1387L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.081 332328 chr9 140246586 140246586 G T rs370098734 EXD3 Nonsynonymous SNV P369T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 332329 chr9 140247164 140247164 C T rs748140536 EXD3 Synonymous SNV T315T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.28 332330 chr9 140347209 140347209 G A rs756747251 NSMF Synonymous SNV P345P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.791 332331 chr11 56511094 56511094 C A rs747446138 OR9G4 Nonsynonymous SNV R65L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.257 332332 chr9 18775879 18775879 C T rs368167190 ADAMTSL1 Synonymous SNV L846L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 332333 chr11 61533505 61533505 C T rs767872277 MYRF Synonymous SNV S70S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.32 332334 chr9 5457332 5457332 A C CD274 Synonymous SNV T102T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 332335 chr11 62559963 62559963 C T NXF1 Synonymous SNV V615V 0.001 0 0 0 1 0 0 0 0 0 0 0 15.33 332336 chr9 86900272 86900272 C G SLC28A3 Nonsynonymous SNV Q545H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 332337 chr11 65161085 65161085 C T rs149665891 FRMD8 Nonsynonymous SNV R43C 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332338 chr3 39450117 39450117 A C RPSA Nonsynonymous SNV K52Q 0.001 0 0 0 1 0 0 0 0 0 0 0 20.9 332339 chrX 112065992 112065992 G T rs781695825 AMOT Synonymous SNV G121G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.291 332340 chr11 73753259 73753259 C T C2CD3 Nonsynonymous SNV D1834N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.044 332341 chr11 75298532 75298532 G A MAP6 Stop gain Q672X 0.001 0 0 0 1 0 0 0 0 0 0 0 36 332342 chrX 32361378 32361378 T A DMD Nonsynonymous SNV K530M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 332343 chrX 34148783 34148783 C A FAM47A Nonsynonymous SNV R538L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 332344 chr3 52397078 52397078 C A rs375094563 DNAH1 Nonsynonymous SNV S1721Y 0.001 0 0 0 1 0 0 0 0 0 0 0 32 332345 chr11 103818438 103818438 G T PDGFD Synonymous SNV P175P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.37 332346 chrX 70352767 70352767 C T rs531754497 MED12 Synonymous SNV R1496R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.31 332347 chrX 73959298 73959298 G T rs145525836 NEXMIF Nonsynonymous SNV T1498N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 332348 chrX 79282349 79282349 G A rs373817537 TBX22 Synonymous SNV T140T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.56 332349 chr11 111594698 111594698 G T SIK2 Nonsynonymous SNV D876Y 0.001 0 0 0 1 0 0 0 0 0 0 0 3.52 332350 chr11 117785158 117785158 G T rs368268142 TMPRSS13 Nonsynonymous SNV R175S 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 332351 chr10 108380210 108380210 C T rs768230980 SORCS1 Synonymous SNV V924V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 332352 chr10 11531133 11531133 T C rs372721793 USP6NL Nonsynonymous SNV K228R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 332353 chr11 120186134 120186134 C G POU2F3 Nonsynonymous SNV T380R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.7 332354 chr10 12149997 12149997 A T rs976098662 DHTKD1 Nonsynonymous SNV I713L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 332355 chr10 125780761 125780761 G C rs748939209 CHST15 Nonsynonymous SNV P453R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.61 332356 chr11 124496813 124496813 G T TBRG1 Nonsynonymous SNV R202L 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332357 chr11 126075635 126075635 A G rs201393424 RPUSD4 Nonsynonymous SNV V200A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.5 332358 chr10 134218772 134218772 C T rs750061779 PWWP2B Synonymous SNV S256S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 332359 chr10 134698606 134698606 C T rs530992850 CFAP46 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 332360 chr12 1904496 1904496 C A CACNA2D4 Nonsynonymous SNV R1093L 0.001 0 0 0 1 0 0 0 0 0 0 0 29.7 332361 chr12 1992126 1992126 C T rs767274749 CACNA2D4 Synonymous SNV E464E 0.001 0 0 0 1 0 0 0 0 0 0 0 14.32 332362 chr10 15326090 15326090 C T rs143775633 FAM171A1 Nonsynonymous SNV V38M 0 0 0.003 0 0 0 0 1 0 0 0 0 27 332363 chr12 4724999 4724999 G A rs34903224 AKAP3 Nonsynonymous SNV S823L 0.001 0 0 0 1 0 0 0 0 0 0 0 16.88 332364 chr10 22048323 22048323 C G DNAJC1 Nonsynonymous SNV E458Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.607 332365 chr12 6167119 6167119 G C rs141649383 VWF Nonsynonymous SNV A542G 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 22.6 332366 chr12 6559947 6559947 G A rs897579261 CD27-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 6.216 332367 chr10 27012753 27012753 T A PDSS1 Nonsynonymous SNV L210I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 332368 chr10 43597813 43597813 G A rs770548816 RET Nonsynonymous SNV V121I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.082 332369 chr12 11091633 11091633 C T rs146764483 TAS2R14 Synonymous SNV L58L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.379 332370 chr10 6266162 6266162 C T rs144329353 PFKFB3 Nonsynonymous SNV R423W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 332371 chr10 70229808 70229809 CA - rs777604935 DNA2 Stop gain C62* 0 0 0.003 0 0 0 0 1 0 0 0 0 332372 chr10 70404752 70404752 G A rs376909245 TET1 Nonsynonymous SNV V756I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 332373 chr12 32138358 32138358 G A rs781505399 RESF1 Nonsynonymous SNV S1490N 0.001 0 0 0 1 0 0 0 0 0 0 0 17.21 332374 chr2 179204432 179204432 C T rs150008222 OSBPL6 Nonsynonymous SNV R289W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332375 chr10 73491940 73491940 C T CDH23 Synonymous SNV L1304L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.09 332376 chr12 49396703 49396703 T A rs61757749 PRKAG1 Synonymous SNV T334T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.07 332377 chr22 31658757 31658757 A C rs201894352 LIMK2 Synonymous SNV T257T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.052 332378 chr12 49434409 49434409 G A rs3741626 KMT2D Nonsynonymous SNV P2382S 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 21.3 332379 chr22 32239118 32239118 G C rs368375649 DEPDC5 Nonsynonymous SNV Q773H 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 22.9 332380 chr12 51598010 51598010 G T POU6F1 Nonsynonymous SNV Q64K 0.001 0 0 0 1 0 0 0 0 0 0 0 3.37 332381 chr22 37482414 37482414 C T rs370192027 TMPRSS6 Synonymous SNV A294A 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 11.87 332382 chr10 97516078 97516078 C T rs565883337 ENTPD1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.356 332383 chr4 54179825 54179825 G T rs140110623 SCFD2 Nonsynonymous SNV N371K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.869 332384 chr4 54232071 54232071 C G rs138592859 SCFD2 Nonsynonymous SNV G13A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.791 332385 chr12 53227666 53227666 G - rs765343549 KRT79 L127Sfs*146 0.001 0 0 0 1 0 0 0 0 0 0 0 332386 chr12 53613910 53613910 G C rs961536923 RARG Nonsynonymous SNV P31A 0.001 0 0 0 1 0 0 0 0 0 0 0 13.47 332387 chr11 102988549 102988549 A G rs745721849 DYNC2H1 Nonsynonymous SNV Y319C 0 0 0.003 0 0 0 0 1 0 0 0 0 18.23 332388 chr12 56347522 56347522 C T DGKA Synonymous SNV R372R 0.001 0 0 0 1 0 0 0 0 0 0 0 12 332389 chr22 50279139 50279139 A G ZBED4 Nonsynonymous SNV N610S 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 332390 chr11 10651252 10651252 G A rs149620181 MRVI1 Nonsynonymous SNV A127V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.48 332391 chr12 57859007 57859007 C G rs542007910 GLI1 Nonsynonymous SNV P40R 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24 332392 chr11 1093477 1093477 A G rs528627429 MUC2 Nonsynonymous SNV T1766A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.092 332393 chr4 89389531 89389531 T A rs375087072 HERC5 Synonymous SNV I364I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.62 332394 chr11 118650388 118650388 G A rs61756275 DDX6 Synonymous SNV L108L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 332395 chr2 231404034 231404034 G T SP100 Nonsynonymous SNV C716F 0.001 0 0 0 1 0 0 0 0 0 0 0 23.1 332396 chr2 110905498 110905498 G C rs974811294 NPHP1 Nonsynonymous SNV R359G 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332397 chr2 234846105 234846105 C G rs144962808 TRPM8 Synonymous SNV T100T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.861 332398 chr12 108985649 108985649 G A rs144109867 TMEM119 Stop gain Q171X 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 37 332399 chr11 126294809 126294809 C T rs778664730 KIRREL3 Nonsynonymous SNV R656H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 332400 chr12 110819585 110819585 G A rs781367378 ANAPC7 Synonymous SNV L402L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.31 332401 chr11 18728625 18728625 G A IGSF22 Nonsynonymous SNV T1139I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 332402 chr11 292042 292042 C T rs368861902 PGGHG Nonsynonymous SNV R325C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332403 chr11 31827964 31827964 G T rs761226699 PAX6 Nonsynonymous SNV S32R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 332404 chr13 20333523 20333523 T G PSPC1 Nonsynonymous SNV Q237P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 332405 chr13 21562336 21562336 G T LATS2 Stop gain S528X 0.001 0 0 0 1 0 0 0 0 0 0 0 37 332406 chr2 185798368 185798368 T C ZNF804A Synonymous SNV N98N 0.001 0 0 0 1 0 0 0 0 0 0 0 2.276 332407 chr11 46667497 46667497 C T rs141061538 ATG13 Synonymous SNV V76V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.87 332408 chr13 32893337 32893337 C T rs397507615 BRCA2 Nonsynonymous SNV T64I 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 29.3 332409 chr5 167995758 167995758 G A rs764823569 PANK3 Synonymous SNV L92L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.667 332410 chr11 55322440 55322440 C T OR4C15 Nonsynonymous SNV P166S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 332411 chr11 56000401 56000401 C T rs1035439252 OR5T2 Synonymous SNV V87V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.94 332412 chr11 5624586 5624586 G T rs759225691 TRIM6, TRIM6-TRIM34 Nonsynonymous SNV C43F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 332413 chr14 20470690 20470690 C T rs115282806 OR4Q2 Synonymous SNV R123R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.43 332414 chr14 20471052 20471054 ATG - rs553279231 OR4Q2 M244del 0.001 0 0 0 1 0 0 0 0 0 0 0 332415 chr14 20502779 20502779 C T rs144683363 OR4K13 Nonsynonymous SNV V47M 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 332416 chr14 20612221 20612221 G A rs138565527 OR4N5 Synonymous SNV A109A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.95 332417 chr14 20841002 20841002 A C rs34811735 TEP1 Nonsynonymous SNV I2214M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.79 332418 chr11 58347056 58347056 C T rs199816199 ZFP91 Nonsynonymous SNV S101F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 332419 chr11 60183149 60183149 T C rs764252361 MS4A14 Synonymous SNV S219S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.889 332420 chr14 24586495 24586495 C A DCAF11 Synonymous SNV R102R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.53 332421 chr11 61300476 61300476 G C rs112961303 SYT7 Synonymous SNV T208T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.13 332422 chr14 25078775 25078775 C A rs774580301 GZMH Synonymous SNV G15G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.768 332423 chr2 242004318 242004318 C T rs371980961 SNED1 Synonymous SNV N886N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.85 332424 chr11 65009610 65009610 C T SLC22A20P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.449 332425 chr11 65270519 65270519 - T rs774938572 MALAT1, TALAM1 0 0 0.003 0 0 0 0 1 0 0 0 0 332426 chr14 64692155 64692155 G A rs371152824 SYNE2 Nonsynonymous SNV E401K 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332427 chr3 159713243 159713243 C T rs55691228 IL12A Nonsynonymous SNV P206L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 1.292 332428 chr11 70338455 70338455 C T rs143774841 SHANK2 Synonymous SNV A220A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 332429 chr3 175184949 175184949 A G rs761787925 NAALADL2 Nonsynonymous SNV I504V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.2 332430 chr11 72028221 72028221 C T rs753116917 CLPB Nonsynonymous SNV R277H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 332431 chr11 75852203 75852203 G A rs143327438 UVRAG Nonsynonymous SNV E616K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.227 332432 chr14 89082527 89082527 A G EML5 Synonymous SNV S1952S 0.001 0 0 0 1 0 0 0 0 0 0 0 8.904 332433 chr14 92583867 92583867 G A rs151054506 NDUFB1 Nonsynonymous SNV R39W 0.001 0 0 0 1 0 0 0 0 0 0 0 25.4 332434 chr11 85438562 85438562 G C SYTL2 Synonymous SNV S613S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.781 332435 chr14 96848757 96848757 G A rs149577622 GSKIP Nonsynonymous SNV R58Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.7 332436 chr11 94759952 94759952 G C rs782684932 KDM4E Nonsynonymous SNV A411P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.379 332437 chr6 26406396 26406396 C T rs2393650 BTN3A1 Synonymous SNV N115N 0.001 0 0 0 1 0 0 0 0 0 0 0 15.07 332438 chr15 30010247 30010247 C A TJP1 Stop gain E1238X 0.001 0 0 0 1 0 0 0 0 0 0 0 46 332439 chr12 10962602 10962602 C A rs766342001 TAS2R9 Stop gain G25X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 332440 chr15 43568758 43568758 C A TGM7 Synonymous SNV P676P 0.001 0 0 0 1 0 0 0 0 0 0 0 12.68 332441 chr6 26108173 26108173 T C rs61729268 H1-6 Nonsynonymous SNV E50G 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 332442 chr12 122985259 122985259 C T ZCCHC8 Synonymous SNV G43G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.92 332443 chr12 124416358 124416358 G T rs368050230 DNAH10 Synonymous SNV V4246V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.56 332444 chr12 125467106 125467106 A G DHX37 Nonsynonymous SNV Y114H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.32 332445 chr6 36287134 36287134 G A rs200253966 BNIP5 Nonsynonymous SNV P641L 0.001 0 0 0 1 0 0 0 0 0 0 0 1.523 332446 chr15 63893867 63893867 G T FBXL22 Synonymous SNV A242A 0.001 0 0 0 1 0 0 0 0 0 0 0 9.856 332447 chr12 18234352 18234352 G A rs73063263 RERGL Stop gain R130X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 332448 chr15 70979973 70979973 G C UACA Nonsynonymous SNV P157A 0.001 0 0 0 1 0 0 0 0 0 0 0 26.2 332449 chr3 14174082 14174082 G A rs201217046 TMEM43 Synonymous SNV T143T 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 15.66 332450 chr12 52647411 52647411 C T rs747948797 KRT87P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 332451 chr4 154544148 154544148 C T rs148556115 TMEM131L Nonsynonymous SNV R1320W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 332452 chr15 92669464 92669464 G T SLCO3A1 Nonsynonymous SNV G450W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332453 chr15 100252970 100252970 G T MEF2A Synonymous SNV V428V 0.001 0 0 0 1 0 0 0 0 0 0 0 1.212 332454 chr16 240566 240566 C A LUC7L Synonymous SNV S260S 0.001 0 0 0 1 0 0 0 0 0 0 0 16.3 332455 chr16 310093 310093 G A rs200046281 FAM234A Nonsynonymous SNV E171K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.003 332456 chr12 58166686 58166686 T C EEF1AKMT3 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 332457 chr12 6562652 6562652 A T rs143238457 TAPBPL Nonsynonymous SNV H112L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 332458 chr12 662556 662556 C T rs35943696 B4GALNT3 Synonymous SNV P489P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.611 332459 chr16 3255166 3255166 G T OR1F1 Nonsynonymous SNV R307M 0.001 0 0 0 1 0 0 0 0 0 0 0 5.993 332460 chr16 3440464 3440464 C A ZSCAN32 Nonsynonymous SNV D63Y 0.001 0 0 0 1 0 0 0 0 0 0 0 15.21 332461 chr21 43241498 43241498 C T rs757478169 PRDM15 Nonsynonymous SNV R699H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 332462 chr16 12758765 12758765 A G rs961893323 CPPED1 Nonsynonymous SNV M166T 0.001 0 0 0 1 0 0 0 0 0 0 0 10.08 332463 chr16 22343435 22343435 A T POLR3E Nonsynonymous SNV M631L 0.001 0 0 0 1 0 0 0 0 0 0 0 9.94 332464 chr16 23464250 23464250 C T rs144356201 COG7 Synonymous SNV R22R 0.001 0 0 0 1 0 0 0 0 0 0 0 18.81 332465 chr13 108861351 108861351 G T rs557203390 LIG4 Nonsynonymous SNV R756S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 332466 chr13 109540756 109540756 A G rs45507695 MYO16 Synonymous SNV K530K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.167 332467 chr16 28878118 28878118 C A SH2B1 Synonymous SNV R235R 0.001 0 0 0 1 0 0 0 0 0 0 0 15.57 332468 chr16 29990796 29990796 G A rs375334553 TAOK2 Nonsynonymous SNV V208I 0.001 0 0 0 1 0 0 0 0 0 0 0 16.49 332469 chr13 114306002 114306002 A G rs201861369 ATP4B Nonsynonymous SNV V199A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 332470 chr13 114435898 114435898 C T rs181291359 GRK1 Synonymous SNV P412P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.723 332471 chr13 114453704 114453704 G T rs192372036 LINC00552 0 0 0.003 0 0 0 0 1 0 0 0 0 3.35 332472 chr13 114507948 114507948 C A rs200284298 TMEM255B Nonsynonymous SNV R254S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.793 332473 chr13 114535698 114535698 C T rs79109564 GAS6 Nonsynonymous SNV V288M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.79 332474 chr16 31088777 31088777 G T ZNF646 Nonsynonymous SNV D378Y 0.001 0 0 0 1 0 0 0 0 0 0 0 24.2 332475 chr13 30521874 30521874 C T rs138147914 LINC00544 0 0 0.003 0 0 0 0 1 0 0 0 0 0.494 332476 chr7 149479338 149479338 C T rs372002241 SSPO 0.001 0 0 0 1 0 0 0 0 0 0 0 13.44 332477 chr16 68725742 68725742 G T CDH3 Nonsynonymous SNV D584Y 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 332478 chr7 154738276 154738276 T A PAXIP1 Nonsynonymous SNV I1027L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 332479 chr16 72130151 72130151 C T rs867897120 DHX38 Nonsynonymous SNV A32V 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 332480 chr16 75147877 75147877 G A LDHD Synonymous SNV P295P 0.001 0 0 0 1 0 0 0 0 0 0 0 13.57 332481 chr13 95243122 95243122 C A rs140430952 TGDS Nonsynonymous SNV A68S 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 33 332482 chr14 21109078 21109078 G T OR6S1 Nonsynonymous SNV A258D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 332483 chr14 23855703 23855703 G A rs545198745 MYH6 Nonsynonymous SNV R1594W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 332484 chr14 23869495 23869495 G T MYH6 Nonsynonymous SNV D517E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 332485 chr14 23899039 23899039 G A rs145091844 MYH7 Synonymous SNV N361N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.7 332486 chr17 1756429 1756429 A C RPA1 Nonsynonymous SNV K90Q 0.001 0 0 0 1 0 0 0 0 0 0 0 9.684 332487 chr14 24731391 24731391 C T rs79251149 TGM1 Synonymous SNV A56A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.78 332488 chr14 24785211 24785211 G A rs77556693 LTB4R Synonymous SNV A118A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.935 332489 chr14 24877457 24877457 G A rs539374112 NYNRIN Nonsynonymous SNV R194Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 332490 chr17 4436296 4436296 G C rs778972753 SPNS2 Synonymous SNV L320L 0.001 0 0 0 1 0 0 0 0 0 0 0 6.978 332491 chr14 51475813 51475813 A T TRIM9 Nonsynonymous SNV F431I 0 0 0.003 0 0 0 0 1 0 0 0 0 31 332492 chr14 55510359 55510359 C T rs553324167 SOCS4 Synonymous SNV T200T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.707 332493 chr14 55510921 55510921 T G rs772661402 SOCS4 Nonsynonymous SNV S388A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.92 332494 chr14 58471856 58471856 T C ARMH4 Nonsynonymous SNV I722M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 332495 chr17 7366011 7366011 G T ZBTB4 Nonsynonymous SNV R764S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.6 332496 chr17 7667330 7667330 C T DNAH2 Synonymous SNV L1054L 0.001 0 0 0 1 0 0 0 0 0 0 0 11.9 332497 chr17 7750235 7750235 C T KDM6B Synonymous SNV T270T 0.001 0 0 0 1 0 0 0 0 0 0 0 1.691 332498 chr5 176026162 176026162 G A GPRIN1 Nonsynonymous SNV T225M 0.001 0 0 0 1 0 0 0 0 0 0 0 0.11 332499 chr17 18155419 18155419 G T FLII Synonymous SNV P326P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.711 332500 chr17 74765907 74765907 C T rs763976500 MFSD11 Synonymous SNV S224S 0.001 0 0 0 1 0 0 0 0 0 0 0 15.39 332501 chr5 33546238 33546238 T A ADAMTS12 Nonsynonymous SNV T1373S 0.001 0 0 0 1 0 0 0 0 0 0 0 14.08 332502 chr17 35992296 35992296 G A rs61756269 DDX52 Synonymous SNV H150H 0.001 0 0 0 1 0 0 0 0 0 0 0 10.81 332503 chr17 37455252 37455252 T C rs575086377 FBXL20 Nonsynonymous SNV N107S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.661 332504 chr17 38711894 38711894 G A rs114428166 CCR7 Synonymous SNV V16V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.29 332505 chr15 40865740 40865740 C T rs142644575 RPUSD2 Synonymous SNV Y245Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 332506 chr15 41146616 41146616 C T rs7165897 SPINT1 Nonsynonymous SNV P321L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 26.2 332507 chr15 41279384 41279384 C T rs199722402 INO80 Nonsynonymous SNV R1246Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 28.2 332508 chr15 42145952 42145952 G T rs372023320 SPTBN5 Synonymous SNV R3270R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 332509 chr15 42147470 42147470 C T rs374155015 SPTBN5 Synonymous SNV A3125A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.5 332510 chr15 42170771 42170771 A T rs150602767 SPTBN5 Nonsynonymous SNV L1080Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 332511 chr15 42977266 42977266 G C rs115363065 STARD9 Nonsynonymous SNV G1164R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.009 332512 chr15 42977839 42977839 G C rs116333487 STARD9 Nonsynonymous SNV G1355R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 332513 chr15 42980023 42980023 G A rs116745790 STARD9 Nonsynonymous SNV E2083K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.625 332514 chr15 42980487 42980487 T A rs114533051 STARD9 Synonymous SNV P2237P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.152 332515 chr15 42981421 42981421 C T rs114416020 STARD9 Synonymous SNV L2549L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.48 332516 chr15 43020919 43020919 G A rs143086237 CDAN1 Nonsynonymous SNV A912V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 332517 chr15 44166456 44166456 C T rs536486548 FRMD5 Nonsynonymous SNV R412Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 332518 chr15 44855395 44855395 T C rs76116949 SPG11 Nonsynonymous SNV K2306R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.5 332519 chr17 42249530 42249530 C T rs774013954 ASB16 Nonsynonymous SNV R140C 0.001 0 0 0 1 0 0 0 0 0 0 0 12.55 332520 chr15 44858499 44858499 G C rs141818132 SPG11 Nonsynonymous SNV D2140E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.86 332521 chr15 44958628 44958628 C T rs149018968 PATL2 Synonymous SNV V336V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 332522 chr15 44967847 44967847 A G rs77918503 PATL2 Nonsynonymous SNV L20P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.033 332523 chr15 45410161 45410161 C T DUOXA1 Synonymous SNV L321L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.923 332524 chr5 1245982 1245984 AGG - rs779196722 SLC6A18 E560del 0.001 0 0 0 1 0 0 0 0 0 0 0 332525 chr15 50366353 50366353 G C rs74317179 ATP8B4 Nonsynonymous SNV R20G 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 332526 chr17 45895891 45895891 G A rs201307628 OSBPL7 Nonsynonymous SNV P154L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.9 332527 chr17 46805872 46805872 G T HOXB13 Synonymous SNV V28V 0.001 0 0 0 1 0 0 0 0 0 0 0 10.75 332528 chr17 48133971 48133971 C A ITGA3 Synonymous SNV V56V 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 332529 chr5 136974754 136974754 G A rs779116761 KLHL3 Synonymous SNV G287G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.42 332530 chr17 54991134 54991134 C G TRIM25 Synonymous SNV V72V 0.001 0 0 0 1 0 0 0 0 0 0 0 16 332531 chr19 58146219 58146219 - GATCAGTTTTTGTTTGTTGAACCATCCTTGCATTCCAGGAATAAATTCTATCTGGT ZNF211 Stop gain T55Rfs*7 0.001 0 0 0 1 0 0 0 0 0 0 0 332532 chr18 60384191 60384191 C T rs551589785 PHLPP1 Synonymous SNV S425S 0.001 0 0 0 1 0 0 0 0 0 0 0 5.287 332533 chr15 75499838 75499838 C T C15orf39 Synonymous SNV C483C 0 0 0.003 0 0 0 0 1 0 0 0 0 3.672 332534 chr15 81214384 81214384 C A CEMIP Nonsynonymous SNV P703Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 332535 chr17 72840499 72840499 G A rs79280591 GRIN2C Synonymous SNV F833F 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 332536 chr17 72842228 72842228 G A rs61740921 GRIN2C Nonsynonymous SNV A776V 0.001 0 0 0 1 0 0 0 0 0 0 0 27 332537 chr17 72848507 72848507 G A rs141665781 GRIN2C Synonymous SNV L215L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.04 332538 chr17 73625478 73625478 T A RECQL5 Synonymous SNV T675T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 332539 chr15 95399469 95399469 C G rs111278347 LOC440311 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 332540 chr17 78023975 78023975 G T rs61736668 CCDC40 Nonsynonymous SNV R351L 0.001 0 0 0 1 0 0 0 0 0 0 0 14.84 332541 chr17 78064047 78064047 C A CCDC40 Nonsynonymous SNV T981K 0.001 0 0 0 1 0 0 0 0 0 0 0 6.565 332542 chr9 113530108 113530108 A C rs201804790 MUSK Nonsynonymous SNV Q310P 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 13.57 332543 chr17 79094094 79094094 G T AATK Synonymous SNV P1111P 0.001 0 0 0 1 0 0 0 0 0 0 0 8.61 332544 chr17 79094721 79094721 - GCCTCA rs774266497 AATK A904_T905insEA 0.001 0 0 0 1 0 0 0 0 0 0 0 332545 chr16 17353212 17353212 C T rs144423897 XYLT1 Synonymous SNV A182A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 332546 chr16 18847521 18847521 G A rs372468875 SMG1 Synonymous SNV Y2597Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.398 332547 chr17 80043505 80043505 C T rs374185580 FASN Synonymous SNV P1325P 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 10.69 332548 chr16 20994202 20994202 C T DNAH3 Nonsynonymous SNV S2521N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332549 chr5 35654646 35654646 T C rs767797491 SPEF2 Nonsynonymous SNV S266P 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 332550 chr16 30732274 30732274 G C rs745968926 SRCAP Nonsynonymous SNV Q1076H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 332551 chr5 53813932 53813932 C T rs753935476 SNX18 Synonymous SNV L50L 0.001 0 0 0 1 0 0 0 0 0 0 0 8.264 332552 chr18 32825460 32825460 G A rs759467213 ZNF397 Nonsynonymous SNV R264K 0.001 0 0 0 1 0 0 0 0 0 0 0 0.01 332553 chr5 61770245 61770245 T G rs770021355 IPO11 Synonymous SNV G277G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 332554 chr16 46943698 46943698 G A rs777897187 GPT2 Nonsynonymous SNV D127N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 332555 chr18 55359053 55359053 G T ATP8B1 Synonymous SNV I352I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.65 332556 chr16 596889 596889 G A rs763492209 CAPN15 Synonymous SNV P17P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 332557 chr16 628831 628831 C T rs148430693 PIGQ Synonymous SNV H372H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.37 332558 chr16 66885421 66885421 C G CA7 Stop gain S82X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 332559 chr18 59947643 59947643 G A rs752608087 RELCH Synonymous SNV P1006P 0.001 0 0 0 1 0 0 0 0 0 0 0 10.74 332560 chr16 68857444 68857444 C T rs771993728 CDH1 Synonymous SNV G632G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.53 332561 chr16 70512304 70512304 A G rs369090482 FCSK Nonsynonymous SNV N924S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.08 332562 chr18 72114099 72114099 G T DIPK1C Nonsynonymous SNV S206R 0.001 0 0 0 1 0 0 0 0 0 0 0 16.37 332563 chr16 78466633 78466633 C G WWOX Nonsynonymous SNV P234R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 332564 chr6 109509173 109509173 G A rs368318595 CCDC162P 0.001 0 0 0 1 0 0 0 0 0 0 0 11.44 332565 chr6 10959067 10959067 G A rs773886205 SYCP2L Synonymous SNV P738P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.225 332566 chr6 109993213 109993213 T G rs369191317 AK9 Nonsynonymous SNV Q80H 0.001 0 0 0 1 0 0 0 0 0 0 0 3.986 332567 chr19 2278661 2278661 G T PEAK3 Synonymous SNV P178P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.118 332568 chr16 88580807 88580807 C T ZFPM1 Nonsynonymous SNV P94L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.316 332569 chr16 89784273 89784273 G A rs548794278 VPS9D1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.003 332570 chr17 10541610 10541610 G A rs145080512 MYH3 Nonsynonymous SNV T1160M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 24.8 332571 chr17 1636939 1636939 C T rs151174953 WDR81 Synonymous SNV P333P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.843 332572 chr17 16456310 16456310 G A ZNF287 Synonymous SNV S334S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 332573 chr19 8212270 8212270 C T FBN3 Nonsynonymous SNV R32H 0.001 0 0 0 1 0 0 0 0 0 0 0 9.767 332574 chr17 1953297 1953297 G A rs551930279 MIR132 0 0 0.003 0 0 0 0 1 0 0 0 0 17.58 332575 chr6 158537305 158537305 A G rs144641679 SERAC1 Synonymous SNV I471I 0.001 0 0 0 1 0 0 0 0 0 0 0 12.2 332576 chr17 21202217 21202217 C A MAP2K3 Synonymous SNV T19T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 332577 chr19 8553647 8553647 C A HNRNPM Stop gain S566X 0.001 0 0 0 1 0 0 0 0 0 0 0 39 332578 chr19 8615202 8615202 C T rs372083345 MYO1F Nonsynonymous SNV G311R 0.001 0 0 0 1 0 0 0 0 0 0 0 17.57 332579 chr17 27903367 27903367 C T rs140990968 GIT1 Synonymous SNV A494A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 332580 chr19 9075426 9075426 G A rs749837922 MUC16 Nonsynonymous SNV T4007I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.2 332581 chr19 9453020 9453020 T C rs151115651 ZNF559 Nonsynonymous SNV V362A 0.001 0 0 0 1 0 0 0 0 0 0 0 8.874 332582 chr19 9676893 9676893 A G ZNF121 Nonsynonymous SNV L299S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.5 332583 chr7 129679322 129679322 G A ZC3HC1 Nonsynonymous SNV P159S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 332584 chr19 10982480 10982480 C T CARM1 Synonymous SNV G34G 0.001 0 0 0 1 0 0 0 0 0 0 0 15.79 332585 chr17 38788519 38788519 G A rs186493032 SMARCE1 Synonymous SNV D214D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.81 332586 chr19 11347080 11347080 G A rs377753718 DOCK6 Synonymous SNV H778H 0.001 0 0 0 1 0 0 0 0 0 0 0 13.32 332587 chr17 38911275 38911275 C T rs766832353 KRT25 Nonsynonymous SNV M83I 0 0 0.003 0 0 0 0 1 0 0 0 0 29 332588 chr17 38991277 38991277 A G TMEM99 0 0 0.003 0 0 0 0 1 0 0 0 0 0.428 332589 chr7 142564353 142564353 A G EPHB6 Nonsynonymous SNV Y234C 0.001 0 0 0 1 0 0 0 0 0 0 0 21.4 332590 chr19 14274081 14274081 G A rs369670781 ADGRL1 Nonsynonymous SNV R178C 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332591 chr17 3957398 3957398 C T rs771043246 ZZEF1 Nonsynonymous SNV R1796H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 332592 chr6 41021152 41021152 G A rs116667889 APOBEC2 Synonymous SNV E22E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.86 332593 chr17 39881117 39881117 C A HAP1 Nonsynonymous SNV G549C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 332594 chr17 40330168 40330168 G A KCNH4 Synonymous SNV L179L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.298 332595 chr19 17547454 17547454 A G TMEM221 Nonsynonymous SNV F230S 0.001 0 0 0 1 0 0 0 0 0 0 0 19.9 332596 chr17 43339492 43339492 G C rs922028345 MAP3K14-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.484 332597 chr17 46048014 46048014 G A rs12947966 CDK5RAP3 Synonymous SNV R2R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.802 332598 chr17 46053353 46053353 C A rs12948207 CDK5RAP3 Nonsynonymous SNV L33I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.53 332599 chr17 46971750 46971750 G A rs751080645 ATP5MC1 Nonsynonymous SNV R19K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 332600 chr17 47018293 47018293 C T rs34165903 SNF8 Synonymous SNV P62P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.77 332601 chr17 47018294 47018294 G A SNF8 Nonsynonymous SNV P62L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332602 chr17 47076486 47076486 A G rs772084376 IGF2BP1 Nonsynonymous SNV Q64R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 332603 chr17 47294036 47294036 A G rs35031462 ABI3 Synonymous SNV E87E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.962 332604 chr17 58988050 58988050 T C rs567999885 BCAS3 Nonsynonymous SNV V327A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 332605 chr19 38229553 38229553 T G rs201106981 ZNF573 Nonsynonymous SNV K525T 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 332606 chr19 40433467 40433467 C T rs148409442 FCGBP Nonsynonymous SNV V268I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.84 332607 chr17 7307391 7307391 C G rs139552861 TMEM256 Nonsynonymous SNV A5P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.83 332608 chr17 73627717 73627717 C T rs200877940 RECQL5 Nonsynonymous SNV G421R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332609 chr7 73944141 73944141 G A rs199706167 GTF2IRD1 Nonsynonymous SNV V422M 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 332610 chr10 12221111 12221111 C T rs536408920 NUDT5 Nonsynonymous SNV R51H 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332611 chr19 48025193 48025193 A G ZNF541 Nonsynonymous SNV I1210T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 332612 chr19 48205024 48205024 C A rs772234607 BICRA Synonymous SNV P1345P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.785 332613 chr17 79781350 79781350 G A rs368509303 MCRIP1 Nonsynonymous SNV P56L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.71 332614 chr17 79803545 79803545 A G rs143872777 P4HB Synonymous SNV H417H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.004 332615 chr17 7989385 7989385 C T rs200663524 ALOX12B Nonsynonymous SNV A101T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.9 332616 chr17 79899411 79899411 C T rs137952618 MYADML2 Synonymous SNV V69V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.248 332617 chr17 80042018 80042018 T C rs867655381 FASN Nonsynonymous SNV E1644G 0 0 0.003 0 0 0 0 1 0 0 0 0 27 332618 chr19 50735289 50735289 C A MYH14 Stop gain S351X 0.001 0 0 0 1 0 0 0 0 0 0 0 38 332619 chr19 51170296 51170296 C T SHANK1 Nonsynonymous SNV A1641T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.363 332620 chr19 51960793 51960793 C T rs140389811 SIGLEC8 Nonsynonymous SNV G219S 0.001 0 0 0 1 0 0 0 0 0 0 0 25.2 332621 chr10 31133972 31133972 T C rs756545581 ZNF438 Nonsynonymous SNV E802G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.1 332622 chr8 125555365 125555365 C T NDUFB9 Nonsynonymous SNV R4W 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332623 chr18 43820010 43820010 C A rs199579962 C18orf25 Nonsynonymous SNV T252N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 332624 chr19 53741529 53741529 T C rs760234207 ZNF677 Nonsynonymous SNV I151V 0.001 0 0 0 1 0 0 0 0 0 0 0 0.001 332625 chr18 60645935 60645935 C T rs755868217 PHLPP1 Synonymous SNV S1475S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 332626 chr10 55582704 55582704 G C PCDH15 Nonsynonymous SNV I1554M 0.001 0 0 0 1 0 0 0 0 0 0 0 19.47 332627 chr18 72250826 72250826 G C CNDP1 Nonsynonymous SNV D447H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 332628 chr19 56538546 56538546 T C rs982997763 NLRP5 Nonsynonymous SNV V316A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.12 332629 chr19 10205606 10205606 C A ANGPTL6 Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.773 332630 chr10 73442321 73442321 G A rs762287437 CDH23 Nonsynonymous SNV E660K 0.001 0 0 0 1 0 0 0 0 0 0 0 29.3 332631 chr8 1645409 1645409 G A rs368484699 DLGAP2 Nonsynonymous SNV E965K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 332632 chr19 10697883 10697883 G A AP1M2 Synonymous SNV L9L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 332633 chr10 79579661 79579661 G T DLG5 Nonsynonymous SNV P1173Q 0.001 0 0 0 1 0 0 0 0 0 0 0 12.85 332634 chr20 860446 860446 G T ANGPT4 Nonsynonymous SNV Q333K 0.001 0 0 0 1 0 0 0 0 0 0 0 26 332635 chr19 15559087 15559087 G A WIZ Nonsynonymous SNV A11V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.852 332636 chr19 16611980 16611980 G C rs760592805 C19orf44 Nonsynonymous SNV G126A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 332637 chr20 3766137 3766137 G T rs776871979 CENPB Nonsynonymous SNV Q332K 0.001 0 0 0 1 0 0 0 0 0 0 0 7.544 332638 chr19 2434488 2434488 C T rs772252986 LMNB2 Nonsynonymous SNV R336Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 332639 chr7 91631706 91631706 T G rs200078353 AKAP9 Synonymous SNV L825L 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 0.921 332640 chr19 35899709 35899709 G T rs148167904 LINC01531 0 0 0.003 0 0 0 0 1 0 0 0 0 0.975 332641 chr20 42939740 42939740 G A rs777161804 FITM2 Nonsynonymous SNV R17W 0.001 0 0 0 1 0 0 0 0 0 0 0 29.4 332642 chr20 43034732 43034732 G A rs41282026 HNF4A Synonymous SNV A50A 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 12.65 332643 chr11 1093555 1093555 - CCATCACCACCACCACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACAAAGAGTACAACCCCGACAT MUC2 T1800_A1801insPTPTPTGTQSTTLTPITTTTTVTPTPTPTGTKSTTPTSITTTTTVT 0.001 0 0 0 1 0 0 0 0 0 0 0 332644 chr20 54824466 54824466 T A rs41274722 MC3R Synonymous SNV I189I 0.001 0 0.003 0 1 0 0 1 0 0 0 0 Likely benign 9.374 332645 chr19 39926272 39926272 A G rs367781093 RPS16 Nonsynonymous SNV I42T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 332646 chr19 40421211 40421211 G A rs774832264 FCGBP Nonsynonymous SNV R904W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 332647 chr19 40519643 40519643 T C ZNF546 Synonymous SNV L130L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.205 332648 chr19 41302551 41302551 C - rs34205730 MIA-RAB4B 0 0 0.007 0 0 0 0 2 0 0 1 0 332649 chr19 42260785 42260785 G C CEACAM6 Nonsynonymous SNV Q114H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.601 332650 chr19 42485941 42485941 G A ATP1A3 Nonsynonymous SNV S423F 0 0 0.003 0 0 0 0 1 0 0 0 0 24 332651 chr20 62195344 62195344 G A rs45482693 HELZ2 Nonsynonymous SNV R1042C 0.001 0 0 0 1 0 0 0 0 0 0 0 9.237 332652 chr20 62373796 62373796 T G rs141335773 SLC2A4RG Nonsynonymous SNV V263G 0.001 0 0 0 1 0 0 0 0 0 0 0 4.569 332653 chr9 130922718 130922718 C T rs551654104 C9orf16 Nonsynonymous SNV P11L 0.001 0 0 0 1 0 0 0 0 0 0 0 24.3 332654 chr20 62839758 62839758 C T rs977403417 MYT1 Synonymous SNV A403A 0.001 0 0 0 1 0 0 0 0 0 0 0 11.95 332655 chr8 144671742 144671742 G A rs370356009 EEF1D Synonymous SNV F170F 0.001 0 0 0 1 0 0 0 0 0 0 0 6.003 332656 chr8 144687941 144687941 C T rs138226068 PYCR3 Nonsynonymous SNV G232R 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332657 chr21 27945206 27945206 G T CYYR1 Synonymous SNV V18V 0.001 0 0 0 1 0 0 0 0 0 0 0 13.69 332658 chr19 464048 464048 G A rs575251329 ODF3L2 Synonymous SNV F222F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.267 332659 chr21 33727785 33727785 T - URB1 E694Rfs*3 0.001 0 0 0 1 0 0 0 0 0 0 0 332660 chr21 33727790 33727798 CCTCTTCCA - URB1 M689_D692delinsN 0.001 0 0 0 1 0 0 0 0 0 0 0 332661 chr11 134244613 134244613 G A GLB1L2 0.001 0 0 0 1 0 0 0 0 0 0 0 27.1 332662 chr11 1477724 1477724 C T rs199989188 BRSK2 Synonymous SNV N605N 0.001 0 0 0 1 0 0 0 0 0 0 0 13.9 332663 chr19 49232341 49232341 G A rs547402858 RASIP1 Synonymous SNV A562A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.931 332664 chr21 40590582 40590582 A G BRWD1 Synonymous SNV D1129D 0.001 0 0 0 1 0 0 0 0 0 0 0 1.405 332665 chr21 40608530 40608530 A C rs143020455 BRWD1 Synonymous SNV P919P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.068 332666 chr9 139369731 139369731 C T rs201641913 SEC16A Synonymous SNV V779V 0.001 0 0 0 1 0 0 0 0 0 0 0 6.725 332667 chr19 51051937 51051937 C T rs372480830 LRRC4B Synonymous SNV P53P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.97 332668 chrX 54578055 54578055 C T rs925595779 GNL3L Synonymous SNV G306G 0.001 0 0 0 1 0 0 0 0 0 0 0 13.03 332669 chr21 47558456 47558456 C G rs61735839 FTCD Nonsynonymous SNV R470P 0.001 0 0 0 1 0 0 0 0 0 0 0 3.813 332670 chr21 47831130 47831130 G A PCNT Nonsynonymous SNV E1597K 0.001 0 0 0 1 0 0 0 0 0 0 0 28.3 332671 chr21 47949058 47949058 A T DIP2A Nonsynonymous SNV T343S 0.001 0 0 0 1 0 0 0 0 0 0 0 10.85 332672 chr22 18317217 18317217 C T MICAL3 Synonymous SNV X967X 0.001 0 0 0 1 0 0 0 0 0 0 0 2.605 332673 chr22 18566254 18566254 G A rs749533743 PEX26 Synonymous SNV V141V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 8.668 332674 chr19 53611940 53611940 G A rs763469293 ZNF415 Nonsynonymous SNV S223L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 332675 chr9 5968959 5968959 G A KIAA2026 Synonymous SNV Y424Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 332676 chr19 55789177 55789177 A G rs201699302 HSPBP1 Nonsynonymous SNV F129S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.53 332677 chr8 6793555 6793555 G A rs772958227 DEFA4 Nonsynonymous SNV T94M 0.001 0 0 0 1 0 0 0 0 0 0 0 14.68 332678 chr19 56370380 56370380 C T rs543572999 NLRP4 Nonsynonymous SNV R541C 0 0 0.003 0 0 0 0 1 0 0 0 0 9.498 332679 chr9 93641127 93641127 G A SYK Synonymous SNV V468V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.484 332680 chr19 57133356 57133356 G A rs536103931 ZNF71 Nonsynonymous SNV R234Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 332681 chr22 37333512 37333512 G T CSF2RB Synonymous SNV T554T 0.001 0 0 0 1 0 0 0 0 0 0 0 4.837 332682 chr22 37769699 37769699 G A rs199787830 ELFN2 Nonsynonymous SNV R626C 0.001 0 0 0 1 0 0 0 0 0 0 0 25.1 332683 chr22 38369693 38369693 C A SOX10 Nonsynonymous SNV D404Y 0.001 0 0 0 1 0 0 0 0 0 0 0 27.2 332684 chr19 58880205 58880205 C G rs776673232 ZNF837 Synonymous SNV T165T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.778 332685 chr22 39222707 39222707 G C rs768131103 NPTXR Nonsynonymous SNV P299R 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 332686 chr22 39239425 39239425 C A NPTXR Nonsynonymous SNV D147Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332687 chr19 59084444 59084444 C T MZF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 332688 chr19 6411842 6411842 G A LOC390877 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.254 332689 chr22 44319866 44319866 G T rs755454679 PNPLA3 Synonymous SNV A25A 0.001 0 0 0 1 0 0 0 0 0 0 0 16.44 332690 chr22 44342225 44342225 C A PNPLA3 Nonsynonymous SNV S470Y 0.001 0 0 0 1 0 0 0 0 0 0 0 18.25 332691 chr22 50319133 50319133 G - rs751705166 CRELD2 S286Afs*102 0.001 0 0 0 1 0 0 0 0 0 0 0 332692 chrX 19372624 19372624 G T PDHA1 Nonsynonymous SNV G176W 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332693 chrX 55479287 55479287 G A rs768597471 MAGEH1 Synonymous SNV E160E 0.001 0 0 0 1 0 0 0 0 0 0 0 0.213 332694 chrX 70777435 70777435 G A rs34739713 OGT Synonymous SNV V505V 0.001 0 0 0 1 0 0 0 0 0 0 0 9.967 332695 chrX 71350294 71350294 A G rs146618350 RTL5 Nonsynonymous SNV M366T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.288 332696 chr9 134073466 134073466 G T NUP214 Nonsynonymous SNV A355S 0.001 0 0 0 1 0 0 0 0 0 0 0 20.2 332697 chrX 74651346 74651346 A T rs144514141 ZDHHC15 Nonsynonymous SNV F121Y 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 12.81 332698 chr1 114248594 114248594 G A rs376954475 PHTF1 Nonsynonymous SNV S244L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 332699 chrX 114425448 114425448 A T RBMXL3 Nonsynonymous SNV N482Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.56 332700 chrX 114880433 114880433 G T PLS3 Nonsynonymous SNV R435L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 332701 chrX 118221758 118221758 C T KIAA1210 Synonymous SNV E1145E 0.001 0 0 0 1 0 0 0 0 0 0 0 8.238 332702 chr1 117660765 117660765 C T TRIM45 Synonymous SNV K371K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.256 332703 chr9 139699786 139699786 G A CCDC183-AS1 0.001 0 0 0 1 0 0 0 0 0 0 0 10.26 332704 chrX 123468124 123468124 C A TEX13D Nonsynonymous SNV H453N 0.001 0 0 0 1 0 0 0 0 0 0 0 3.949 332705 chrX 124456512 124456512 C T rs747406274 TEX13C Synonymous SNV V848V 0.001 0 0 0 1 0 0 0 0 0 0 0 4.719 332706 chrX 129271081 129271081 G A rs781350745 AIFM1 Synonymous SNV S10S 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 10.96 332707 chr1 11851296 11851296 C T rs202153689 MTHFR Nonsynonymous SNV V615I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 332708 chrX 138679655 138679655 A G rs980215646 MCF2 Synonymous SNV N634N 0.001 0 0 0 1 0 0 0 0 0 0 0 7.884 332709 chr1 1231495 1231495 G A rs571161059 MIR6726 0 0 0.003 0 0 0 0 1 0 0 0 0 2.903 332710 chr1 1275649 1275649 G A rs147684126 DVL1 Synonymous SNV I249I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.12 332711 chrX 148571893 148571893 C A IDS Nonsynonymous SNV D320Y 0.001 0 0 0 1 0 0 0 0 0 0 0 22.5 332712 chrX 149931134 149931134 G A rs141312913 MTMR1 Nonsynonymous SNV V550I 0.001 0 0 0 1 0 0 0 0 0 0 0 0.653 332713 chrX 150912816 150912816 G A rs765240604 CNGA2 Nonsynonymous SNV R614H 0.001 0 0 0 1 0 0 0 0 0 0 0 24.1 332714 chr1 145686989 145686989 G A rs147745704 RNF115 Synonymous SNV E227E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 332715 chr1 150598965 150598965 G A rs145743127 ENSA Nonsynonymous SNV A74V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.77 332716 chr1 151105206 151105217 GCCTCCGCCGAC - SEMA6C V838_G841del 0 0 0.003 0 0 0 0 1 0 0 0 0 332717 chrX 153735750 153735750 C A FAM3A Nonsynonymous SNV D136Y 0.001 0 0 0 1 0 0 0 0 0 0 0 33 332718 chr9 37860086 37860086 G T rs746908501 DCAF10 Nonsynonymous SNV V230F 0.001 0 0 0 1 0 0 0 0 0 0 0 25 332719 chr1 156737620 156737620 C T rs776208790 PRCC Synonymous SNV P19P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 332720 chr1 158990158 158990158 T C rs780142234 IFI16 Nonsynonymous SNV Y278H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 332721 chr1 159410003 159410003 G A rs202246787 OR10J1 Nonsynonymous SNV R141H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 332722 chr1 17296905 17296905 G A rs745615493 CROCC Nonsynonymous SNV R1870Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24 332723 chr1 182794916 182794916 T G NPL Nonsynonymous SNV F228V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 332724 chr1 185269407 185269407 A C rs773760077 IVNS1ABP Nonsynonymous SNV D437E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.12 332725 chr1 186275510 186275510 A C rs114532084 PRG4 Nonsynonymous SNV D86A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.6 332726 chr1 193094311 193094311 G A rs752298916 CDC73 Synonymous SNV V67V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.48 332727 chrX 40450579 40450579 C T ATP6AP2 Synonymous SNV L88L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.11 332728 chr1 200534651 200534651 T G rs75449932 KIF14 Nonsynonymous SNV S779R 0 0 0.007 0 0 0 0 2 0 0 0 0 Benign/Likely benign 23.1 332729 chr1 203017437 203017437 G A rs777237239 PPFIA4 Nonsynonymous SNV R408Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 332730 chr12 12977579 12977579 G A DDX47 Nonsynonymous SNV V286I 0.001 0 0 0 1 0 0 0 0 0 0 0 32 332731 chr12 2062427 2062427 A G rs145283187 DCP1B Nonsynonymous SNV S227P 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 332732 chr1 225965680 225965680 C T rs752380127 SRP9 Nonsynonymous SNV A13V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 332733 chr1 230459180 230459180 C T rs61442386 PGBD5 Synonymous SNV P522P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.95 332734 chr1 230907769 230907769 C T rs774342227 CAPN9 Stop gain R204X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 332735 chr1 2317309 2317309 C T MORN1 Nonsynonymous SNV G129E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 332736 chr1 231906728 231906728 C T rs776032830 DISC1 Synonymous SNV L166L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 332737 chr1 233335961 233335961 T G rs370350779 PCNX2 Nonsynonymous SNV Q971H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 332738 chr12 49221675 49221675 G A CACNB3 Nonsynonymous SNV S442N 0.001 0 0 0 1 0 0 0 0 0 0 0 16.5 332739 chr1 240370222 240370222 G A rs551130739 FMN2 Nonsynonymous SNV V704M 0 0 0.003 0 0 0 0 1 0 0 0 0 8.767 332740 chr1 24175327 24175327 T C FUCA1 Synonymous SNV E324E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 332741 chr1 26517201 26517201 G A rs141300745 CATSPER4 Nonsynonymous SNV R28H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 332742 chr1 32669875 32669877 GGA - rs771126640 CCDC28B E143del 0 0 0.003 0 0 0 0 1 0 0 0 0 332743 chr1 40768483 40768483 - GGAG rs3831927 COL9A2 0 0 0.003 0 0 0 0 1 0 0 0 0 332744 chr1 44450592 44450592 C T rs755791825 B4GALT2 Nonsynonymous SNV A202V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 332745 chr1 52769556 52769556 C T rs760825781 ZFYVE9 Nonsynonymous SNV R1074W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332746 chr1 55186878 55186878 A G rs770464570 TTC4 Nonsynonymous SNV K145R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 332747 chr1 55223760 55223760 C A rs192469262 PARS2 Nonsynonymous SNV D359Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 332748 chr1 6214766 6214766 C T rs148598493 CHD5 Synonymous SNV V233V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.381 332749 chr1 6267523 6267523 C T rs58587405 RNF207 Synonymous SNV G92G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.27 332750 chr1 79392698 79392698 G A rs773326856 ADGRL4 Nonsynonymous SNV P319L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.11 332751 chr1 9101814 9101814 G T rs188271538 SLC2A5 Nonsynonymous SNV H201N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.114 332752 chr13 41134143 41134143 G A rs151230081 FOXO1 Synonymous SNV N495N 0.001 0 0 0 1 0 0 0 0 0 0 0 5.056 332753 chr13 41768190 41768190 C T rs772266139 KBTBD7 Synonymous SNV E68E 0.001 0 0 0 1 0 0 0 0 0 0 0 3.108 332754 chr13 42873716 42873716 A G AKAP11 Synonymous SNV Q278Q 0.001 0 0 0 1 0 0 0 0 0 0 0 0.034 332755 chr13 43500555 43500555 C G EPSTI1 Nonsynonymous SNV E65Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.7 332756 chr1 94543340 94543340 C T rs145614671 ABCA4 Nonsynonymous SNV R487Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 332757 chr14 100706153 100706153 G C rs772586727 YY1 Nonsynonymous SNV G191A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.33 332758 chr20 2442437 2442437 G A SNRPB Nonsynonymous SNV P230S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 332759 chr20 25058353 25058353 C G VSX1 Nonsynonymous SNV G259A 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 332760 chr14 102550860 102550860 T C rs374753558 HSP90AA1 Synonymous SNV L341L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.14 332761 chr20 30777201 30777201 A - rs535754137 TSPY26P 0 0 0.003 0 0 0 0 1 0 0 0 0 332762 chr14 104644192 104644192 C G rs200263517 KIF26A Synonymous SNV G1689G 0.001 0 0 0 1 0 0 0 0 0 0 0 10.7 332763 chr20 33338004 33338004 G A NCOA6 Nonsynonymous SNV P665L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 332764 chr20 33437809 33437809 C T rs967645494 GGT7 Nonsynonymous SNV G594S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 332765 chr20 35526342 35526342 C T SAMHD1 Synonymous SNV E508E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.35 332766 chr20 45867795 45867795 G A ZMYND8 Nonsynonymous SNV S719F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 332767 chr20 5550835 5550835 G A rs575449365 GPCPD1 Synonymous SNV P369P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 332768 chr20 5953222 5953222 A G MCM8 Synonymous SNV K408K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.351 332769 chr14 24709508 24709508 G A TINF2 Synonymous SNV L329L 0.001 0 0 0 1 0 0 0 0 0 0 0 10.17 332770 chr20 60897778 60897778 T C rs773956500 LAMA5 Nonsynonymous SNV D2034G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 18.1 332771 chr14 24879194 24879194 G C rs376464969 NYNRIN Nonsynonymous SNV A732P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.428 332772 chr14 60977865 60977865 G C rs140601427 SIX6 Synonymous SNV T212T 0.001 0 0 0 1 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 4.045 332773 chr21 41457598 41457598 C T rs200670025 DSCAM Nonsynonymous SNV G1355S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332774 chr14 64688269 64688269 G A rs551711330 SYNE2 Synonymous SNV P201P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.089 332775 chr21 45978085 45978085 C T rs782686391 KRTAP10-3 Nonsynonymous SNV V172M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 332776 chr21 45978086 45978086 A G rs374857522 KRTAP10-3 Synonymous SNV C171C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 332777 chr14 81329207 81329207 C T rs370474015 CEP128 Nonsynonymous SNV R219Q 0.001 0 0 0 1 0 0 0 0 0 0 0 35 332778 chr21 47669587 47669587 G A MCM3AP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.732 332779 chr21 47847672 47847672 C T rs758636838 PCNT Nonsynonymous SNV S2368F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 332780 chr22 30415669 30415669 G T rs141784414 MTMR3 Nonsynonymous SNV G674V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.458 332781 chr22 38122496 38122496 C T rs778855202 TRIOBP Synonymous SNV F1311F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 332782 chr22 41574132 41574132 C T rs111315183 EP300 Synonymous SNV G2113G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.784 332783 chr22 42125712 42125712 A G MEI1 Nonsynonymous SNV H303R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.082 332784 chr22 42289233 42289233 G A rs541405592 SREBF2 Nonsynonymous SNV S774N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 332785 chr2 102965676 102965676 A G rs201555383 IL1RL1 Nonsynonymous SNV I419V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 332786 chr2 103318958 103318958 G A rs114491816 SLC9A2 Synonymous SNV Q614Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.003 332787 chr2 144764800 144764800 C T rs140522810 GTDC1 Nonsynonymous SNV G275D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.941 332788 chr2 1459854 1459854 G A rs755885941 TPO Nonsynonymous SNV E207K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 332789 chr2 148674957 148674957 G C rs767727387 ACVR2A Nonsynonymous SNV D152H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 332790 chr2 152387566 152387566 G A NEB Nonsynonymous SNV T5490I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 332791 chr2 152531055 152531055 T C rs777962427 NEB Nonsynonymous SNV N1308S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.346 332792 chr2 158595029 158595029 T C rs745343863 ACVR1 Nonsynonymous SNV S440G 0 0 0.003 0 0 0 0 1 0 0 0 0 28 332793 chr2 163044793 163044793 A G FAP Nonsynonymous SNV M542T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 332794 chr2 167298233 167298233 C T rs200768943 SCN7A Stop gain W610X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 332795 chr2 175213787 175213795 GAGGAAGAT - rs541260443 CIR1 S268_S270del 0 0 0.003 0 0 0 0 1 0 0 0 0 332796 chr2 177495135 177495135 A C rs35428608 LINC01116 0 0 0.003 0 0 0 0 1 0 0 0 0 1.036 332797 chr2 179826125 179826125 A G CCDC141 Synonymous SNV N204N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.199 332798 chr16 1816085 1816085 C T rs370194148 MAPK8IP3 Synonymous SNV N850N 0.001 0 0 0 1 0 0 0 0 0 0 0 8.447 332799 chr2 201437828 201437828 T G rs201763936 SGO2 Nonsynonymous SNV M920R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 332800 chr16 24801400 24801400 C T rs147231450 TNRC6A Synonymous SNV N479N 0.001 0 0 0 1 0 0 0 0 0 0 0 0.746 332801 chr2 209010503 209010503 G A CRYGB Nonsynonymous SNV P83S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 332802 chr2 209010540 209010540 - A rs757390739 CRYGB Frameshift insertion M70Ifs*29 0 0 0.003 0 0 0 0 1 0 0 0 0 332803 chr2 218940040 218940040 A G RUFY4 Synonymous SNV L275L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 332804 chr2 220347535 220347535 G A rs760748935 SPEG Synonymous SNV T1865T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 332805 chr16 48138147 48138147 - A ABCC12 Frameshift insertion M936Yfs*84 0.001 0 0 0 1 0 0 0 0 0 0 0 332806 chr2 232028420 232028420 A G rs574824369 PSMD1 Synonymous SNV P820P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 332807 chr2 233128058 233128058 G A rs745936781 DIS3L2 Nonsynonymous SNV E523K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.66 332808 chr2 233396160 233396160 C T rs142063328 CHRND Nonsynonymous SNV P113S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 29.7 332809 chr16 57695682 57695682 A G rs746066965 ADGRG1 Nonsynonymous SNV M585V 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 2.458 332810 chr2 234750666 234750666 C T rs202022630 HJURP Nonsynonymous SNV D169N 0 0 0.003 0 0 0 0 1 0 0 0 0 12 332811 chr2 242707155 242707155 C T rs746956176 D2HGDH Nonsynonymous SNV A312V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 332812 chr16 732799 732799 C T rs201419838 JMJD8 Nonsynonymous SNV G219S 0.001 0 0 0 1 0 0 0 0 0 0 0 22.6 332813 chr2 242946258 242946258 G A rs770693066 LOC285097 0 0 0.003 0 0 0 0 1 0 0 0 0 4.805 332814 chr16 75646366 75646366 T A rs16940732 ADAT1 Nonsynonymous SNV K186M 0.001 0 0 0 1 0 0 0 0 0 0 0 23 332815 chr16 87637908 87637908 - CTGCTG JPH3 A157_V158insAA 0.001 0 0 0 1 0 0 0 0 0 0 0 332816 chr17 12887957 12887957 G C ARHGAP44 Synonymous SNV P477P 0.001 0 0 0 1 0 0 0 0 0 0 0 2.965 332817 chr2 84949775 84949775 G T rs1049243969 DNAH6 Nonsynonymous SNV R3273S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 332818 chr3 101240972 101240972 T A rs181377074 FAM172BP 0 0 0.003 0 0 0 0 1 0 0 0 0 12.32 332819 chr3 107097194 107097194 G A rs568494047 CCDC54 Nonsynonymous SNV V254I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 332820 chr3 121414534 121414534 T C rs142305255 GOLGB1 Synonymous SNV K1532K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 332821 chr3 142141512 142141512 A G rs779870164 XRN1 Synonymous SNV F293F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 332822 chr3 153958270 153958270 C G rs368654826 ARHGEF26 Synonymous SNV L734L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 332823 chr17 456662 456662 A G VPS53 Nonsynonymous SNV I553T 0.001 0 0 0 1 0 0 0 0 0 0 0 0.771 332824 chr3 188327605 188327605 C T rs774003479 LPP Synonymous SNV A362A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 332825 chr3 3143384 3143384 G A rs756791707 IL5RA Nonsynonymous SNV A120V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.351 332826 chr3 38047955 38047955 C G rs200122241 VILL Nonsynonymous SNV R538G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 332827 chr3 38548461 38548461 T C rs767011389 EXOG 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 332828 chr3 42730143 42730143 T C rs140389534 KLHL40 Nonsynonymous SNV V452A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21 332829 chr17 706927 706927 C T rs371091546 NXN Nonsynonymous SNV G266R 0.001 0 0 0 1 0 0 0 0 0 0 0 24.4 332830 chr3 46854001 46854001 C - PRSS44P 0 0 0.003 0 0 0 0 1 0 0 0 0 332831 chr3 4735309 4735309 G A rs746865797 ITPR1 Nonsynonymous SNV E1374K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 332832 chr3 47458944 47458944 C T rs750204880 SCAP Synonymous SNV P684P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.11 332833 chr17 73497895 73497895 G A rs199907273 CASKIN2 Nonsynonymous SNV A1005V 0.001 0 0 0 1 0 0 0 0 0 0 0 12.9 332834 chr17 73622058 73622058 G C MYO15B 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 332835 chr17 73919519 73919519 G C rs369910956 FBF1 Nonsynonymous SNV P391R 0.001 0 0 0 1 0 0 0 0 0 0 0 2.444 332836 chr17 73949589 73949589 G A rs148407756 ACOX1 Nonsynonymous SNV A258V 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 332837 chr3 49785440 49785440 A G rs139564570 IP6K1 Nonsynonymous SNV Y12H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.1 332838 chr17 76046262 76046262 T C TNRC6C Synonymous SNV P373P 0.001 0 0 0 1 0 0 0 0 0 0 0 0.093 332839 chr3 52727031 52727031 G C rs765780798 GNL3 Nonsynonymous SNV S338T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 332840 chr3 9799429 9799429 C A rs369091156 CAMK1 Synonymous SNV L338L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.61 332841 chr17 79660747 79660747 C T HGS Synonymous SNV L269L 0.001 0 0 0 1 0 0 0 0 0 0 0 15.95 332842 chr18 10675268 10675268 T C PIEZO2 Nonsynonymous SNV Y2587C 0.001 0 0 0 1 0 0 0 0 0 0 0 29.2 332843 chr4 123270697 123270697 A G KIAA1109 Nonsynonymous SNV S4511G 0 0 0.003 0 0 0 0 1 0 0 0 0 24 332844 chr4 138442396 138442396 G A rs760235272 PCDH18 Synonymous SNV P1064P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.05 332845 chr18 3168874 3168874 C T rs775219046 MYOM1 Nonsynonymous SNV R427H 0.001 0 0 0 1 0 0 0 0 0 0 0 34 332846 chr4 169325184 169325184 A C DDX60L Nonsynonymous SNV L1096R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.79 332847 chr4 185689505 185689505 C T rs774970320 ACSL1 Nonsynonymous SNV V331M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 332848 chr4 185941855 185941855 C T HELT Nonsynonymous SNV L220F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 332849 chr4 38830156 38830156 C T rs575437783 TLR6 Synonymous SNV T313T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.749 332850 chr19 1077800 1077800 C T ARHGAP45 Nonsynonymous SNV T12I 0.001 0 0 0 1 0 0 0 0 0 0 0 5.512 332851 chr4 494306 494306 C T PIGG Synonymous SNV Y92Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.975 332852 chr4 73169684 73169684 T C rs780199229 ADAMTS3 Nonsynonymous SNV I792V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 332853 chr4 73935403 73935403 C T rs140278299 COX18 Nonsynonymous SNV C25Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 332854 chr4 84205884 84205884 C G rs863223934 COQ2 Nonsynonymous SNV G12R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.3 332855 chr4 94411877 94411877 C T rs150683134 GRID2 Nonsynonymous SNV T554M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 332856 chr5 1078830 1078830 C G SLC12A7 Synonymous SNV V480V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.056 332857 chr19 19576162 19576162 A G rs779332053 GATAD2A Nonsynonymous SNV E3G 0.001 0 0 0 1 0 0 0 0 0 0 0 29.8 332858 chr19 22271341 22271341 C A rs770213926 ZNF257 Synonymous SNV G187G 0.001 0 0 0 1 0 0 0 0 0 0 0 7.077 332859 chr5 134102698 134102698 C T rs768363770 DDX46 Nonsynonymous SNV R100W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 332860 chr5 137780138 137780138 G A rs148003732 REEP2 Nonsynonymous SNV V73M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 332861 chr5 140167129 140167129 G A rs369564292 PCDHA1 Synonymous SNV L418L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.137 332862 chr5 140784667 140784667 G A rs764536213 PCDHGA9 Synonymous SNV L716L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.085 332863 chr5 140884984 140884984 C T PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5 Synonymous SNV G838G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 332864 chr5 141039416 141039416 G A rs367852994 ARAP3 Nonsynonymous SNV T1066M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332865 chr5 142254700 142254700 T C rs373317587 ARHGAP26 Synonymous SNV T92T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.161 332866 chr5 159399333 159399333 G A rs548580887 ADRA1B Nonsynonymous SNV G466D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.82 332867 chr5 172385542 172385542 G A rs77005722 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 3.801 332868 chr5 39382912 39382912 T C rs765083727 DAB2 Synonymous SNV E362E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.076 332869 chr5 53815278 53815278 C T rs376723402 SNX18 Nonsynonymous SNV A499V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 332870 chr5 76785399 76785399 T C rs201202661 WDR41 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 332871 chr5 79854973 79854973 C T rs565558399 ANKRD34B Nonsynonymous SNV R289Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 332872 chr5 80419571 80419571 T C rs144217197 RASGRF2 Nonsynonymous SNV Y861H 0 0 0.003 0 0 0 0 1 0 0 0 0 25 332873 chr5 82786272 82786272 G A rs35031282 VCAN Synonymous SNV T142T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.98 332874 chr6 105297112 105297112 C T rs200973354 HACE1 Synonymous SNV S77S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.94 332875 chr6 119245084 119245084 C T rs144849604 MCM9 Synonymous SNV S171S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.72 332876 chr6 143832662 143832662 G A rs374410560 FUCA2 Nonsynonymous SNV T37I 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 332877 chr6 153296245 153296245 T A rs779584167 FBXO5 Nonsynonymous SNV L159F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 332878 chr6 168465614 168465614 G A rs375257973 FRMD1 Synonymous SNV G127G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.007 332879 chr6 170088983 170088983 A G WDR27 Nonsynonymous SNV M40T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 332880 chr6 24357819 24357819 C T DCDC2 Nonsynonymous SNV G54S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 332881 chr6 24450089 24450089 G A rs200250768 GPLD1 Synonymous SNV D458D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.98 332882 chr19 8650428 8650428 C G ADAMTS10 Nonsynonymous SNV S413T 0.001 0 0 0 1 0 0 0 0 0 0 0 18.32 332883 chr6 36683419 36683419 C A rs903697691 RAB44 Nonsynonymous SNV H161Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.834 332884 chr6 41897885 41897887 CAT - rs755156077 BYSL I151del 0 0 0.003 0 0 0 0 1 0 0 0 0 332885 chr6 7559539 7559539 G A DSP Nonsynonymous SNV G168D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 332886 chr7 100675382 100675382 G A rs781229156 MUC17 Nonsynonymous SNV A229T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.321 332887 chr7 100679553 100679553 G A rs147244857 MUC17 Nonsynonymous SNV S1619N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 332888 chr1 156437916 156437916 C T rs140205006 MEF2D Nonsynonymous SNV G468R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.5 332889 chr1 156524099 156524099 G T IQGAP3 Nonsynonymous SNV A459D 0.001 0 0 0 1 0 0 0 0 0 0 0 12.26 332890 chr1 156843583 156843583 G A NTRK1 Nonsynonymous SNV A337T 0.001 0 0 0 1 0 0 0 0 0 0 0 5.778 332891 chr7 115892484 115892484 A G rs763288676 TES Nonsynonymous SNV N344S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 332892 chr7 129414574 129414574 A G rs41274239 MIR96 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16.36 332893 chr7 137531515 137531515 - GGCGGC DGKI A31_S32insAA 0 0 0.003 0 0 0 0 1 0 0 0 0 332894 chr7 139741526 139741526 T C rs768889508 PARP12 Nonsynonymous SNV K367R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 332895 chr1 16736388 16736388 G A rs773955939 SPATA21 Nonsynonymous SNV H76Y 0.001 0 0 0 1 0 0 0 0 0 0 0 13.71 332896 chr1 169582183 169582183 C T SELP Synonymous SNV K253K 0.001 0 0 0 1 0 0 0 0 0 0 0 8.536 332897 chr7 143175594 143175594 A G TAS2R41 Nonsynonymous SNV H210R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 332898 chr7 150501541 150501541 G T rs376649866 TMEM176A Nonsynonymous SNV R216I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 332899 chr7 157023955 157023955 T A rs531485123 UBE3C Synonymous SNV A805A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 332900 chr7 21750260 21750260 T G DNAH11 Nonsynonymous SNV L2258R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332901 chr7 21932208 21932208 C G rs777887934 DNAH11 Nonsynonymous SNV L4225V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 332902 chr7 25266577 25266577 - T rs766699446 NPVF Frameshift insertion N69Kfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 332903 chr1 200571040 200571040 G A rs145353826 KIF14 Synonymous SNV N221N 0.001 0 0 0 1 0 0 0 0 0 0 0 11.31 332904 chr1 203025635 203025635 A G rs141527662 PPFIA4 Nonsynonymous SNV S747G 0.001 0 0 0 1 0 0 0 0 0 0 0 8.355 332905 chr1 203054852 203054852 C T rs78072249 MYOG Nonsynonymous SNV V80M 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 12.83 332906 chr7 44736591 44736591 C T rs146779926 OGDH Nonsynonymous SNV A656V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 332907 chr7 590205 590205 C T rs370829885 PRKAR1B Synonymous SNV A336A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.19 332908 chr7 65557593 65557593 C A rs770167670 ASL Nonsynonymous SNV A378D 0 0 0.003 0 0 0 0 1 0 0 0 0 33 332909 chr7 73450910 73450910 A T rs200810494 ELN Synonymous SNV G53G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.075 332910 chr7 75615273 75615273 G A rs779082897 POR Nonsynonymous SNV G568S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 33 332911 chr8 135614585 135614585 G T rs200259422 ZFAT Synonymous SNV V397V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.9 332912 chr8 136470187 136470187 G A rs764520283 KHDRBS3 Synonymous SNV L26L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.986 332913 chr8 142264807 142264807 C T rs549464502 LOC105375787 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 332914 chr1 26387824 26387824 G A rs145769000 TRIM63 Nonsynonymous SNV R112W 0.001 0 0 0 1 0 0 0 0 0 0 0 32 332915 chr8 145738398 145738398 C T rs747237323 RECQL4 Nonsynonymous SNV E863K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.58 332916 chr8 146157691 146157691 C T rs781131133 ZNF16 Nonsynonymous SNV R161H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.68 332917 chr8 18729227 18729227 G A rs114838869 PSD3 Nonsynonymous SNV R350C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 19.08 332918 chr8 22442595 22442595 C T rs370441913 PDLIM2 Synonymous SNV S127S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 332919 chr1 43892851 43892851 G A SZT2 0.001 0 0 0 1 0 0 0 0 0 0 0 26.6 332920 chr8 35544224 35544224 C T rs142730803 UNC5D Synonymous SNV L356L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 332921 chr8 42706010 42706010 C T RNF170 Nonsynonymous SNV R176Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.517 332922 chr8 67341451 67341451 G A rs375178198 RRS1 Nonsynonymous SNV E29K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 332923 chr1 6272385 6272385 T C RNF207 Nonsynonymous SNV M464T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.61 332924 chr8 8875856 8875856 T C rs767555461 ERI1 Nonsynonymous SNV I133T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.28 332925 chr8 95680403 95680403 G A rs199645269 ESRP1 Synonymous SNV A386A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.926 332926 chr8 98973661 98973661 C T MATN2 Synonymous SNV D287D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 332927 chr9 100963772 100963772 C T rs772091155 TBC1D2 Nonsynonymous SNV E356K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 332928 chr9 102590468 102590468 G A rs977487047 NR4A3 Synonymous SNV T48T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.342 332929 chr9 116769714 116769714 T C ZNF618 Nonsynonymous SNV V180A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 332930 chr1 85121679 85121679 C T rs775636818 SSX2IP Nonsynonymous SNV A382T 0.001 0 0 0 1 0 0 0 0 0 0 0 14.52 332931 chr9 131351096 131351096 G A rs150731568 SPTAN1 Synonymous SNV V960V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.08 332932 chr9 131749113 131749113 T C rs61744524 NUP188 Synonymous SNV H741H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.769 332933 chr9 131939552 131939552 G A rs60193826 IER5L Synonymous SNV D260D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 2.843 332934 chr9 132484537 132484537 C G PRRX2 Nonsynonymous SNV T223S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.64 332935 chr9 133760459 133760459 C T rs1064162 ABL1 Synonymous SNV L928L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.736 332936 chr20 2381037 2381037 A G TGM6 Synonymous SNV K312K 0.001 0 0 0 1 0 0 0 0 0 0 0 5.466 332937 chr9 138837051 138837051 T G rs767353493 UBAC1 Nonsynonymous SNV E233D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 332938 chr9 139391231 139391231 C T rs768457106 NOTCH1 Synonymous SNV P2320P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.97 332939 chr9 35045090 35045090 T G C9orf131 Nonsynonymous SNV F787V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.15 332940 chr9 35075735 35075735 G A FANCG Nonsynonymous SNV S387F 0 0 0.003 0 0 0 0 1 0 0 0 0 1.959 332941 chr9 35685271 35685271 G A rs746177794 TPM2 Synonymous SNV A186A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 332942 chr9 35809492 35809492 G A SPAG8 Synonymous SNV P427P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.371 332943 chr20 48500446 48500446 G A rs761715853 SLC9A8 Nonsynonymous SNV R461Q 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 332944 chr9 72131517 72131517 C T rs779518539 APBA1 Nonsynonymous SNV A204T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 332945 chr9 89699154 89699154 G A rs73654957 LOC494127 0 0 0.003 0 0 0 0 1 0 0 0 0 1.654 332946 chr9 91159431 91159431 C T rs533646670 NXNL2 Nonsynonymous SNV A147V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 332947 chr9 98209422 98209422 C T rs776937004 PTCH1 Synonymous SNV T1320T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.77 332948 chr9 99581055 99581055 G A rs769362393 ZNF782 Nonsynonymous SNV T393M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 332949 chrM 652 652 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 332950 chrUn_gl000219 56455 56455 C T LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 332951 chrUn_gl000220 118551 118551 - GA RNA45SN1, RNA45SN2, RNA45SN3, RNA45SN4, RNA45SN5 0 0 0.003 0 0 0 0 1 0 0 0 0 332952 chrX 120182219 120182219 C A GLUD2 Nonsynonymous SNV N227K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 332953 chrX 153581216 153581216 C T rs372978023 FLNA Synonymous SNV T2093T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.703 332954 chrX 153582571 153582571 G A rs782568386 FLNA Synonymous SNV S1827S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.968 332955 chrX 20154198 20154198 G C rs73447107 SCARNA9L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.391 332956 chrX 35820778 35820778 C T rs187910329 MAGEB16 Synonymous SNV L155L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.799 332957 chrX 48544153 48544153 G A rs146220228 WAS Nonsynonymous SNV E131K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 27.9 332958 chrX 70356755 70356755 C T rs772462354 MED12 Synonymous SNV S1809S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.83 332959 chrX 73069689 73069689 G T rs552372858 XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 0.645 332960 chrX 7870101 7870101 G A rs372843326 PNPLA4 Stop gain R100X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 332961 chrX 83723961 83723961 G T rs777924646 HDX Nonsynonymous SNV T199K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 332962 chr22 26164220 26164220 C T rs372231956 MYO18B Nonsynonymous SNV R113C 0.001 0 0 0 1 0 0 0 0 0 0 0 22.1 332963 chr22 28379729 28379729 G A TTC28 Nonsynonymous SNV P1976S 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 332964 chr10 17659307 17659307 C T HACD1 Nonsynonymous SNV G11D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 332965 chr10 21117517 21117517 G C NEBL Nonsynonymous SNV T573S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.786 332966 chr10 27323761 27323761 T G rs753271920 ANKRD26 Nonsynonymous SNV R1205S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 332967 chr22 47086000 47086000 T C rs780481483 CERK Nonsynonymous SNV K477R 0.001 0 0 0 1 0 0 0 0 0 0 0 9.382 332968 chr2 100171163 100171163 G A rs569849120 AFF3 Nonsynonymous SNV P1131L 0.001 0 0 0 1 0 0 0 0 0 0 0 32 332969 chr2 101096993 101096993 G T rs766889988 NMS Nonsynonymous SNV K124N 0.001 0 0 0 1 0 0 0 0 0 0 0 24.6 332970 chr10 5437351 5437351 C T rs140233181 TUBAL3 Nonsynonymous SNV R72Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 332971 chr10 69163113 69163113 C T rs140981160 MIR7151 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 332972 chr10 70045091 70045091 A G rs201398509 PBLD Synonymous SNV L256L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.04 332973 chr10 70182598 70182598 C T rs751092529 DNA2 Nonsynonymous SNV R753H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 332974 chr2 14774127 14774127 C A rs772942268 LRATD1 Synonymous SNV I8I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.67 332975 chr10 97471746 97471746 G A rs200247284 ENTPD1 Synonymous SNV Q11Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.53 332976 chr2 148684727 148684727 G C ACVR2A Nonsynonymous SNV G368R 0.001 0 0 0 1 0 0 0 0 0 0 0 19.02 332977 chr10 99228077 99228077 G - MMS19 R341Gfs*38 0 0 0.003 0 0 0 0 1 0 0 0 0 332978 chr11 103187303 103187303 A C rs748607783 DYNC2H1 Nonsynonymous SNV L3893F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.4 332979 chr11 1085827 1085827 C T rs375722616 MUC2 Synonymous SNV C916C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.69 332980 chr2 179427063 179427063 A G TTN Synonymous SNV Y18867Y 0.001 0 0 0 1 0 0 0 0 0 0 0 0.035 332981 chr11 1099782 1099782 A G rs752698575 MUC2 Nonsynonymous SNV N2460S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.37 332982 chr2 179439802 179439802 G A rs55903402 TTN Nonsynonymous SNV A14621V 0.001 0 0 0 1 0 0 0 0 0 0 0 21.6 332983 chr2 179595820 179595820 T G rs376347879 TTN Nonsynonymous SNV K4614Q 0.001 0 0 0 1 0 0 0 0 0 0 0 13.51 332984 chr11 114568772 114568772 G T NXPE2 Synonymous SNV S46S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.543 332985 chr11 118076607 118076607 C T rs369260270 JAML Nonsynonymous SNV R136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 332986 chr2 190557894 190557894 A G rs148779806 ANKAR Nonsynonymous SNV H433R 0.001 0 0 0 1 0 0 0 0 0 0 0 8.8 332987 chr11 122968526 122968526 C T rs146055456 CLMP Nonsynonymous SNV D55N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.9 332988 chr2 215657163 215657163 A G BARD1 Synonymous SNV C55C 0.001 0 0 0 1 0 0 0 0 0 0 0 Likely benign 2.914 332989 chr2 220083302 220083302 C T rs776958079 ABCB6 Nonsynonymous SNV V32M 0.001 0 0 0 1 0 0 0 0 0 0 0 9.145 332990 chr11 20070412 20070412 G A NAV2 Synonymous SNV L433L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.052 332991 chr11 47462728 47462728 G A rs374676714 RAPSN Synonymous SNV A316A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.38 332992 chr2 241658507 241658507 G A rs553465326 KIF1A Synonymous SNV S1609S 0.001 0 0 0 1 0 0 0 0 0 0 0 15 332993 chr11 4903306 4903306 A T OR51T1 Nonsynonymous SNV K59N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 332994 chr2 44066254 44066254 C T rs144411000 ABCG8 Nonsynonymous SNV S21L 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 7.838 332995 chr2 45647027 45647027 C T rs773544451 SRBD1 Nonsynonymous SNV V686I 0.001 0 0 0 1 0 0 0 0 0 0 0 22.8 332996 chr11 581578 581578 C T rs536999722 PHRF1 Synonymous SNV V22V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 332997 chr11 6007822 6007822 G A rs376543359 OR52L1 Synonymous SNV I113I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.083 332998 chr11 62296234 62296234 T C rs768459463 AHNAK Synonymous SNV T1885T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 332999 chr11 62549388 62549388 C T rs748109811 TAF6L Nonsynonymous SNV T185M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 333000 chr11 64794996 64794996 T G rs376340866 ARL2-SNX15 0 0 0.003 0 0 0 0 1 0 0 0 0 13.97 333001 chr11 65161738 65161738 C T rs760459527 FRMD8 Synonymous SNV D85D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.16 333002 chr11 65266725 65266725 G T rs374676811 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.373 333003 chr11 65266726 65266726 A T rs761500733 MALAT1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.878 333004 chr11 6567962 6567962 G A rs200466112 DNHD1 Synonymous SNV L1931L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.035 333005 chr11 6645575 6645575 C T rs995544722 DCHS1 Synonymous SNV G2444G 0 0 0.003 0 0 0 0 1 0 0 0 0 7.433 333006 chr11 82904687 82904687 G A rs534987955 LOC100506282 0 0 0.003 0 0 0 0 1 0 0 0 0 6.545 333007 chr11 86662330 86662330 T A FZD4 Nonsynonymous SNV T490S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 333008 chr11 8959468 8959468 G T ASCL3 Nonsynonymous SNV P81T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.429 333009 chr12 102161906 102161906 G A rs781704040 GNPTAB Synonymous SNV A439A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.7 333010 chr12 109698427 109698427 G T rs61753862 ACACB Synonymous SNV P2213P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.62 333011 chr12 113796526 113796526 G C PLBD2 Nonsynonymous SNV A41P 0 0 0.003 0 0 0 0 1 0 0 0 0 23 333012 chr12 120214174 120214174 C T rs35132196 CIT Synonymous SNV A625A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.92 333013 chr12 121756170 121756170 C T ANAPC5 Synonymous SNV L489L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 333014 chr12 124408369 124408369 G T rs774211643 DNAH10 Nonsynonymous SNV A3738S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.89 333015 chr3 37368395 37368395 A G rs137974637 GOLGA4 Nonsynonymous SNV H1673R 0.001 0 0 0 1 0 0 0 0 0 0 0 5.468 333016 chr12 12939888 12939888 C T rs764153583 APOLD1 Synonymous SNV L48L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 333017 chr3 38316548 38316548 G A rs151201297 SLC22A13 Nonsynonymous SNV G236R 0.001 0 0 0 1 0 0 0 0 0 0 0 25.9 333018 chr12 133180924 133180924 G A rs1016302271 LRCOL1 Synonymous SNV H131H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.911 333019 chr12 49121343 49121343 G A rs117270884 TEX49 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 333020 chr12 50356086 50356086 G T AQP5 Nonsynonymous SNV V96L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.835 333021 chr12 50471039 50471039 G A rs775952643 ASIC1 Nonsynonymous SNV R235Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 333022 chr12 50571537 50571537 G A rs766627352 LIMA1 Synonymous SNV I228I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 333023 chr12 50746549 50746549 C G rs1024588876 FAM186A Nonsynonymous SNV A1356P 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 333024 chr12 51451867 51451867 G A rs112499329 LETMD1 Nonsynonymous SNV R199Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 333025 chr3 63975893 63975893 T C ATXN7 Nonsynonymous SNV I323T 0.001 0 0 0 1 0 0 0 0 0 0 0 11.38 333026 chr3 69054337 69054337 T C EOGT Nonsynonymous SNV T157A 0.001 0 0 0 1 0 0 0 0 0 0 0 12.1 333027 chr12 56620194 56620194 G A rs142956608 NABP2 Nonsynonymous SNV A143T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.156 333028 chr12 57432320 57432320 A C rs145696754 MYO1A Nonsynonymous SNV L546V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 333029 chr12 58006732 58006732 C T rs147842061 ARHGEF25 Synonymous SNV G39G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.6 333030 chr12 72667307 72667307 G A rs746827208 TRHDE Nonsynonymous SNV R250H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 333031 chr12 94641849 94641849 C T PLXNC1 Synonymous SNV S853S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 333032 chr12 95397422 95397422 T A NDUFA12 Nonsynonymous SNV Q12L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 333033 chr12 99020099 99020099 - G rs772000734 IKBIP Frameshift insertion L248Pfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 333034 chr13 109777635 109777635 T C MYO16 Synonymous SNV R1237R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.962 333035 chr13 24798485 24798485 G A rs200561905 SPATA13 Nonsynonymous SNV S473N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 333036 chr13 25479593 25479595 AGG - rs756125218 CENPJ P861del 0 0 0.003 0 0 0 0 1 0 0 0 0 333037 chr13 32360543 32360543 C T rs181937374 RXFP2 Nonsynonymous SNV T294M 0 0 0.003 0 0 0 0 1 0 0 0 0 5.349 333038 chr4 186299266 186299266 T G LRP2BP Nonsynonymous SNV Q25H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.024 333039 chr14 21074733 21074733 G A rs1243594 LOC254028 0 0 0.003 0 0 0 0 1 0 0 0 0 5.197 333040 chr14 29236932 29236932 C T rs112803404 FOXG1 Synonymous SNV A149A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.8 333041 chr14 35515716 35515716 G A rs200451528 FAM177A1 Nonsynonymous SNV S16N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.09 333042 chr14 58862754 58862754 A G rs779442329 TOMM20L Nonsynonymous SNV I27V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 333043 chr14 63417122 63417122 T C rs146883958 KCNH5 Nonsynonymous SNV I366M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.3 333044 chr14 64632077 64632077 G T SYNE2 Nonsynonymous SNV E5518D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 333045 chr5 112174071 112174071 C G rs587781500 APC Nonsynonymous SNV A909G 0.001 0 0 0 1 0 0 0 0 0 0 0 Uncertain significance 12.18 333046 chr14 69991013 69991013 A T PLEKHD1 Nonsynonymous SNV T240S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.99 333047 chr5 115346527 115346527 T C LVRN Nonsynonymous SNV V728A 0.001 0 0 0 1 0 0 0 0 0 0 0 0.004 333048 chr5 115389808 115389808 C G ARL14EPL Nonsynonymous SNV A65G 0.001 0 0 0 1 0 0 0 0 0 0 0 25 333049 chr5 118529582 118529596 TGATGATGATGACAA - DMXL1 N2463_D2467del 0.001 0 0 0 1 0 0 0 0 0 0 0 333050 chr14 77765898 77765898 C T POMT2 Nonsynonymous SNV V275M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 333051 chr14 88893991 88893991 G A SPATA7 Nonsynonymous SNV G256E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.397 333052 chr14 95999689 95999689 G - rs763643718 SNHG10 0 0 0.003 0 0 0 0 1 0 0 0 0 333053 chr14 95999691 95999691 A T rs753815675 SNHG10 0 0 0.003 0 0 0 0 1 0 0 0 0 2.991 333054 chr5 140573011 140573011 C T rs148113532 PCDHB10 Nonsynonymous SNV P296S 0.001 0 0 0 1 0 0 0 0 0 0 0 6.445 333055 chr15 25226972 25226972 G C rs1056609192 SNHG14 0 0 0.003 0 0 0 0 1 0 0 0 0 2.134 333056 chr15 26026181 26026181 G A rs954775189 ATP10A Synonymous SNV R213R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 333057 chr5 149221908 149221908 T A PPARGC1B Synonymous SNV I889I 0.001 0 0 0 1 0 0 0 0 0 0 0 8.596 333058 chr5 159822298 159822298 T C rs115682314 ZBED8 Nonsynonymous SNV K67R 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 333059 chr15 62214756 62214756 A G rs141890160 VPS13C Nonsynonymous SNV I2229T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 333060 chr5 176951756 176951756 C T rs767944740 FAM193B Nonsynonymous SNV G576S 0.001 0 0 0 1 0 0 0 0 0 0 0 12.48 333061 chr15 71185977 71185978 AA - rs759696182 LRRC49 K35Sfs*4 0 0 0.003 0 0 0 0 1 0 0 0 0 333062 chr15 74327861 74327861 T C rs200400610 PML Nonsynonymous SNV S639P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.771 333063 chr15 77320965 77320965 C T rs774530073 PSTPIP1 Nonsynonymous SNV A163V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.58 333064 chr5 31526640 31526640 C T DROSHA Nonsynonymous SNV G134R 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 333065 chr5 32058118 32058118 G A rs758031215 PDZD2 Synonymous SNV A703A 0.001 0 0 0 1 0 0 0 0 0 0 0 10.33 333066 chr15 84581888 84581888 C T rs147461513 ADAMTSL3 Nonsynonymous SNV P582L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.836 333067 chr16 1260621 1260621 G A rs372696265 CACNA1H Synonymous SNV T1336T 0 0 0.007 0 0 0 0 2 0 0 0 0 11.68 333068 chr5 78533121 78533121 C T JMY Synonymous SNV P216P 0.001 0 0 0 1 0 0 0 0 0 0 0 6.989 333069 chr16 15680659 15680659 C T rs143456558 BMERB1 Synonymous SNV C179C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 333070 chr16 2004006 2004006 G A rs143447625 RPL3L Synonymous SNV Y49Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.173 333071 chr16 2013082 2013082 G C rs200156644 SNORA64 0 0 0.003 0 0 0 0 1 0 0 0 0 8.414 333072 chr16 24574970 24574970 G A rs758762416 RBBP6 Nonsynonymous SNV R502Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333073 chr16 2813452 2813452 C A SRRM2 Nonsynonymous SNV P975T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.76 333074 chr16 29821450 29821450 A G rs372438870 MAZ Synonymous SNV A139A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 333075 chr16 29856156 29856156 G A rs368136206 MVP Synonymous SNV Q593Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 333076 chr16 30745876 30745876 C T SRCAP Synonymous SNV P2223P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 333077 chr16 30938737 30938737 A G FBXL19 Nonsynonymous SNV I116V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.99 333078 chr16 336730 336730 C A rs118177911 PDIA2 Synonymous SNV R473R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.802 333079 chr16 3594264 3594264 G A rs745952617 NLRC3 Nonsynonymous SNV T946I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 333080 chr16 3801734 3801734 G A CREBBP Nonsynonymous SNV P1220S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.82 333081 chr16 420210 420210 T C rs777894580 MRPL28 Synonymous SNV L3L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.171 333082 chr6 144749958 144749958 T C UTRN Nonsynonymous SNV I208T 0.001 0 0 0 1 0 0 0 0 0 0 0 7.045 333083 chr16 77246202 77246202 C T SYCE1L Nonsynonymous SNV R132W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 333084 chr16 84225136 84225136 C T rs538269915 ADAD2 Synonymous SNV P100P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.786 333085 chr6 36922708 36922708 G C rs768467879 PI16 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 333086 chr17 16029477 16029477 T C NCOR1 Nonsynonymous SNV E409G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.46 333087 chr6 37342405 37342405 C T RNF8 Synonymous SNV L350L 0.001 0 0 0 1 0 0 0 0 0 0 0 12.21 333088 chr17 16203220 16203220 A G rs149094276 PIGL Synonymous SNV P118P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.733 333089 chr6 38691169 38691170 AT - DNAH8 Stop gain F152* 0.001 0 0 0 1 0 0 0 0 0 0 0 333090 chr17 16344891 16344891 T G rs1140988 SNHG29 0 0 0.003 0 0 0 0 1 0 0 0 0 0.192 333091 chr6 43271811 43271811 G A rs774294045 SLC22A7 Nonsynonymous SNV R472Q 0.001 0 0 0 1 0 0 0 0 0 0 0 26.7 333092 chr17 34236314 34236314 A T LRRC37A8P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.78 333093 chr17 34964194 34964194 G A rs762334534 MRM1 Nonsynonymous SNV S242N 0 0 0.003 0 0 0 0 1 0 0 0 0 3.969 333094 chr6 80717707 80717707 - ACC TTK E107_S108insT 0.001 0 0 0 1 0 0 0 0 0 0 0 333095 chr17 38975866 38975866 C T KRT10 Nonsynonymous SNV E426K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333096 chr7 100086599 100086599 C T rs12532726 NYAP1 Nonsynonymous SNV R419W 0.001 0 0.003 0 1 0 0 1 0 0 0 0 28.2 333097 chr17 43214085 43214085 T C rs768129277 ACBD4 Nonsynonymous SNV M79T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 333098 chr17 46985897 46985897 C T UBE2Z Nonsynonymous SNV T11M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 333099 chr7 100682830 100682830 C A MUC17 Synonymous SNV T2711T 0.001 0 0 0 1 0 0 0 0 0 0 0 13.33 333100 chr17 48685332 48685332 C T CACNA1G Nonsynonymous SNV R1496W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333101 chr7 1097676 1097676 G A rs758225061 GPR146 Synonymous SNV A175A 0.001 0 0 0 1 0 0 0 0 0 0 0 2.731 333102 chr17 55072989 55072989 T C rs143208016 SCPEP1 Nonsynonymous SNV I260T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 333103 chr7 128452101 128452101 G A CCDC136 Nonsynonymous SNV R759H 0.001 0 0 0 1 0 0 0 0 0 0 0 0.081 333104 chr17 6928484 6928484 C T rs754524931 BCL6B Nonsynonymous SNV S285F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.814 333105 chr17 72838849 72838849 A G rs1018995656 GRIN2C Nonsynonymous SNV W1143R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333106 chr7 1522289 1522289 G A INTS1 Nonsynonymous SNV P1199L 0.001 0 0 0 1 0 0 0 0 0 0 0 23.6 333107 chr7 19015508 19015508 A G rs34282407 HDAC9 Synonymous SNV T990T 0.001 0 0 0 1 0 0 0 0 0 0 0 3.227 333108 chr17 77015680 77015680 C A C1QTNF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.401 333109 chr7 23286486 23286486 C T rs150499567 GPNMB Nonsynonymous SNV L4F 0.001 0 0 0 1 0 0 0 0 0 0 0 10.69 333110 chr17 79985553 79985553 G A rs372810970 LRRC45 Synonymous SNV A279A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.338 333111 chr7 37262254 37262254 G A rs761429850 ELMO1 Nonsynonymous SNV A249V 0.001 0 0 0 1 0 0 0 0 0 0 0 32 333112 chr18 12724522 12724522 A G rs146023149 PSMG2 Synonymous SNV A202A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.25 333113 chr18 19752073 19752075 ACC - rs587780342 GATA6 H333del 0 0 0.003 0 0 0 0 1 0 0 0 0 333114 chr18 2732408 2732408 T C rs764076509 SMCHD1 Nonsynonymous SNV I1065T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333115 chr18 29784145 29784145 C T rs770348906 MEP1B Synonymous SNV G123G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 333116 chr18 34850818 34850818 C T rs146847221 CELF4 Nonsynonymous SNV V337M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 333117 chr18 45566485 45566485 C T rs138978875 ZBTB7C Nonsynonymous SNV G332S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 333118 chr18 57136834 57136834 C T rs750584132 CCBE1 Nonsynonymous SNV D91N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 333119 chr7 99654966 99654966 G A rs575493636 ZSCAN21 Nonsynonymous SNV A113T 0.001 0 0 0 1 0 0 0 0 0 0 0 26.4 333120 chr18 76752405 76752405 C T rs866452845 SALL3 Synonymous SNV P138P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.963 333121 chr19 10250355 10250355 C T DNMT1 Synonymous SNV L1299L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 333122 chr8 11695962 11695962 C T rs146404720 FDFT1 Synonymous SNV I199I 0.001 0 0 0 1 0 0 0 0 0 0 0 15.78 333123 chr8 117950726 117950726 G A AARD Nonsynonymous SNV A82T 0.001 0 0 0 1 0 0 0 0 0 0 0 24.5 333124 chr19 11097217 11097217 - GGCCCC SMARCA4 P244_A245insGP 0 0 0.003 0 0 0 0 1 0 0 0 0 333125 chr19 15586674 15586674 G C rs768122396 PGLYRP2 Synonymous SNV T269T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 333126 chr8 145736878 145736878 A G rs535259922 RECQL4 Nonsynonymous SNV L1188P 0.001 0 0 0 1 0 0 0 0 0 0 0 Benign 24.5 333127 chr19 34895407 34895407 G A rs1025465412 PDCD2L Synonymous SNV P24P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 333128 chr19 3942224 3942224 G T rs767115630 NMRK2 Nonsynonymous SNV G221C 0 0 0.007 0 0 0 0 2 0 0 1 0 15.9 333129 chr19 40698441 40698441 C A rs36102209 MAP3K10 Nonsynonymous SNV P168Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 333130 chr8 38947604 38947604 T C rs926635362 ADAM9 Nonsynonymous SNV F703L 0.001 0 0 0 1 0 0 0 0 0 0 0 27.7 333131 chr19 42480634 42480634 G C ATP1A3 Synonymous SNV T687T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.981 333132 chr19 4523694 4523694 G A rs201112241 PLIN5 Nonsynonymous SNV P413L 0 0 0.007 0 0 0 0 2 0 0 1 0 24.1 333133 chr8 92365202 92365202 G A rs778011920 SLC26A7 Stop gain W130X 0.001 0 0 0 1 0 0 0 0 0 0 0 40 333134 chr8 98731338 98731338 G A rs143317071 MTDH Nonsynonymous SNV R426H 0.001 0 0 0 1 0 0 0 0 0 0 0 23.3 333135 chr19 49377101 49377101 A C rs772939947 PPP1R15A Nonsynonymous SNV H204P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 333136 chr9 130540895 130540895 C A rs769479217 SH2D3C Synonymous SNV G4G 0.001 0 0 0 1 0 0 0 0 0 0 0 11.73 333137 chr9 132483023 132483023 A C rs148368723 PRRX2 Nonsynonymous SNV Y199S 0.001 0 0 0 1 0 0 0 0 0 0 0 23 333138 chr19 5951531 5951531 G A rs770419454 RANBP3 Nonsynonymous SNV T52M 0 0 0.007 0 0 0 0 2 0 0 1 0 17.34 333139 chr19 8326623 8326623 C T rs201297985 CERS4 Synonymous SNV F300F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.87 333140 chr9 37974810 37974810 C T rs370530548 SHB Nonsynonymous SNV R288Q 0.001 0 0 0 1 0 0 0 0 0 0 0 23.4 333141 chr1 10699171 10699182 TCGTCGTCGTCC - rs778912711 CASZ1 E1699_D1702del 0 0 0.003 0 0 0 0 1 0 0 0 0 333142 chr1 11810219 11810219 G A rs765257979 AGTRAP Synonymous SNV E143E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.942 333143 chr1 155018185 155018185 T C rs992392637 DCST1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.516 333144 chr1 155221373 155221373 T C FAM189B Nonsynonymous SNV M176V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 333145 chr1 15655774 15655774 C T rs557862045 LOC101927417 0 0 0.003 0 0 0 0 1 0 0 0 0 6.35 333146 chr1 171752893 171752893 G A rs748017579 EEF1AKNMT Nonsynonymous SNV G56E 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 333147 chr1 172113695 172113695 A G DNM3OS, MIR199A2 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 333148 chr1 183617370 183617370 G A rs867527033 APOBEC4 Nonsynonymous SNV R183W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333149 chr1 186043953 186043953 C T rs562987367 HMCN1 Synonymous SNV T2740T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 333150 chr1 201009162 201009162 T A rs746454478 CACNA1S Nonsynonymous SNV I1807F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 333151 chr1 201489404 201489404 G A rs139451797 RPS10P7 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 333152 chr1 203466235 203466235 C T rs778306661 OPTC Nonsynonymous SNV P121L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 333153 chr1 208084353 208084353 A G rs781190944 CD34 Synonymous SNV L25L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 333154 chr1 224415643 224415643 T C rs183954550 LOC101927164 0 0 0.003 0 0 0 0 1 0 0 0 0 2.309 333155 chr1 227071475 227071475 C T rs140501902 PSEN2 Nonsynonymous SNV R71W 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.2 333156 chr1 22816911 22816911 C T ZBTB40 Nonsynonymous SNV P157L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333157 chr1 228345726 228345726 G A GJC2 Synonymous SNV T89T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.656 333158 chr1 228785907 228785907 C A rs997792731 DUSP5P1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.217 333159 chr1 235926145 235926145 T C LYST Nonsynonymous SNV K2043R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 333160 chr1 246727667 246727667 G A rs370938561 TFB2M Nonsynonymous SNV T128I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 333161 chr1 248308779 248308779 C T rs775048825 OR2M5 Synonymous SNV S110S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.4 333162 chr1 24995715 24995715 C T rs778169233 SRRM1 Nonsynonymous SNV T529M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333163 chr1 26146845 26146845 G C rs529776896 LOC646471 0 0 0.003 0 0 0 0 1 0 0 0 0 0.208 333164 chr1 32121026 32121026 C G rs199551630 COL16A1 Nonsynonymous SNV K1393N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333165 chr1 43824944 43824944 A C rs764603179 CDC20 Nonsynonymous SNV I20L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.79 333166 chr1 44063681 44063681 C T rs143907854 PTPRF Synonymous SNV P692P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 333167 chr1 53742713 53742713 C T rs768518884 LRP8 Synonymous SNV S178S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 333168 chr1 6659261 6659261 A G rs375189478 KLHL21 Nonsynonymous SNV Y425H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 333169 chr1 87538636 87538636 C T rs763680605 HS2ST1 Synonymous SNV H48H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.59 333170 chr1 9932027 9932027 G A rs200258284 CTNNBIP1 Synonymous SNV N32N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.07 333171 chr20 39316578 39316578 C G MAFB Nonsynonymous SNV G305R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 333172 chr20 39793663 39793663 A C rs772742309 PLCG1 Synonymous SNV T436T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.04 333173 chr20 39798906 39798906 C T rs201973799 PLCG1 Synonymous SNV A935A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 333174 chr20 48140744 48140744 G A rs5626 PTGIS Nonsynonymous SNV R236C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 333175 chr20 58495499 58495499 A G SYCP2 Nonsynonymous SNV V71A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.89 333176 chr20 61981615 61981615 C T rs762374374 CHRNA4 Nonsynonymous SNV R383H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.88 333177 chr20 62192779 62192779 G T rs114590806 HELZ2 Nonsynonymous SNV P1724T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 333178 chr20 62236151 62236151 C T rs768505227 GMEB2 Synonymous SNV A58A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 333179 chr20 62320929 62320929 C T rs79210260 RTEL1 Synonymous SNV R428R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.2 333180 chr21 33711129 33711129 C T rs776814877 URB1 Nonsynonymous SNV R1466H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 333181 chr21 33717753 33717753 G A URB1 Stop gain R1334X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333182 chr21 41173251 41173251 T A IGSF5 Nonsynonymous SNV S397R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 333183 chr22 19029472 19029472 T C DGCR2 Nonsynonymous SNV D295G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 333184 chr22 31011643 31011643 C T rs201392026 TCN2 Nonsynonymous SNV A270V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.8 333185 chr22 43539120 43539120 G C rs77536207 MCAT Nonsynonymous SNV R79G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 333186 chr22 48021056 48021056 G A rs780496863 LINC00898 0 0 0.003 0 0 0 0 1 0 0 0 0 0.147 333187 chr2 109399202 109399202 T C rs200328905 RANBP2 Nonsynonymous SNV F3085L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 333188 chr2 11919651 11919651 C T rs779535108 LPIN1 Synonymous SNV S243S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.48 333189 chr2 152499776 152499776 T C NEB Nonsynonymous SNV Q2683R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.23 333190 chr2 168106888 168106888 G T rs749878243 XIRP2 Nonsynonymous SNV A2774S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.49 333191 chr2 168725741 168725741 A T rs141683896 B3GALT1 Nonsynonymous SNV E64D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.621 333192 chr2 179440658 179440658 T A TTN Nonsynonymous SNV I14336F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.62 333193 chr2 182542533 182542533 G T rs774325551 NEUROD1 Nonsynonymous SNV A352D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 333194 chr2 26950707 26950707 C G KCNK3 Synonymous SNV A152A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 333195 chr2 69174300 69174300 T C rs189947949 GKN2 Synonymous SNV Q98Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 333196 chr2 73298834 73298834 T C SFXN5 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 333197 chr2 86010782 86010782 C G rs56790095 MIR6071 0 0 0.003 0 0 0 0 1 0 0 0 0 5.037 333198 chr2 86364635 86364635 A G PTCD3 Nonsynonymous SNV T675A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 333199 chr2 9458703 9458703 G A rs148575549 ASAP2 Synonymous SNV K132K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 333200 chr2 96858139 96858139 T C STARD7 Nonsynonymous SNV M271V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 333201 chr3 128182061 128182061 C T rs144365861 DNAJB8 Nonsynonymous SNV V10M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 333202 chr3 13407457 13407457 G A NUP210 Synonymous SNV L641L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 333203 chr3 138183186 138183186 G T ESYT3 0 0 0.003 0 0 0 0 1 0 0 0 0 24 333204 chr3 141205928 141205928 - GCGGCGGCGGCGCCTGCTGCT RASA2 A11_S12insAPAAAAA 0 0 0.003 0 0 0 0 1 0 0 0 0 333205 chr3 151156035 151156035 T C rs370277399 IGSF10 Nonsynonymous SNV Y132C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 333206 chr3 160232913 160232913 T C SCARNA7 0 0 0.003 0 0 0 0 1 0 0 0 0 1.745 333207 chr3 169524672 169524672 C T rs78900160 LRRC34 Synonymous SNV G164G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 333208 chr3 169664073 169664073 T A rs113581462 LOC100128164 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 333209 chr3 172241155 172241155 T - rs777394962 TNFSF10 Q7Rfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 333210 chr3 186338419 186338419 C T rs144873304 AHSG Synonymous SNV V240V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.364 333211 chr3 32030985 32030985 C T rs115832100 ZNF860 Synonymous SNV T138T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.651 333212 chr3 47040850 47040850 C T rs199773537 NBEAL2 Nonsynonymous SNV R1163C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 333213 chr3 52020295 52020295 G T rs138461347 ABHD14A-ACY1, ACY1 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.269 333214 chr4 110581456 110581456 G A MCUB Nonsynonymous SNV G94D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 333215 chr4 144480673 144480673 C T rs191257689 GUSBP5 0 0 0.007 0 0 0 0 2 0 0 1 0 7.966 333216 chr4 156773379 156773379 A G rs754543137 ASIC5 Synonymous SNV S225S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.936 333217 chr4 159136408 159136408 T - rs531225975 TMEM144 L59Yfs*33 0 0 0.003 0 0 0 0 1 0 0 0 0 333218 chr4 174189379 174189379 C G rs943938928 MIR548T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.035 333219 chr4 1806118 1806118 C T rs137896792 FGFR3 Synonymous SNV Y379Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.86 333220 chr4 186544761 186544761 C G SORBS2 Nonsynonymous SNV V508L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333221 chr4 3142295 3142295 G A rs370523524 HTT Nonsynonymous SNV V953M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333222 chr4 48559084 48559084 C A rs200588184 FRYL Nonsynonymous SNV A1393S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 333223 chr4 54967005 54967005 A T GSX2 Nonsynonymous SNV H165L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 333224 chr4 5925012 5925012 A T MIR378D1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.967 333225 chr4 6303907 6303907 - GAC rs397517197 WFS1 D797_V798insD 0 0 0.003 0 0 0 0 1 0 0 0 0 333226 chr4 675855 675855 G A rs151007751 SLC49A3 Synonymous SNV T406T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.187 333227 chr4 72317017 72317017 C T rs530167253 SLC4A4 Nonsynonymous SNV R397W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 333228 chr4 75025856 75025856 A G rs996471264 MTHFD2L Synonymous SNV L76L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.065 333229 chr4 76793295 76793295 T C PPEF2 Nonsynonymous SNV N511S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 333230 chr4 83839220 83839220 C T rs763865422 THAP9 Nonsynonymous SNV L619F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 333231 chr4 85416951 85416951 C G NKX6-1 Synonymous SNV T239T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.5 333232 chr4 8608470 8608470 G - CPZ G294Afs*17 0 0 0.003 0 0 0 0 1 0 0 0 0 333233 chr5 126754886 126754886 T G rs748227745 MEGF10 Nonsynonymous SNV N460K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.4 333234 chr5 134573239 134573239 A G rs370430722 C5orf66-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 333235 chr5 140025185 140025185 C T rs772395364 NDUFA2 Nonsynonymous SNV S96N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 333236 chr5 140237644 140237644 G C rs200045353 PCDHA10 Nonsynonymous SNV G671R 0 0 0.003 0 0 0 0 1 0 0 0 0 4.574 333237 chr5 141024691 141024694 AGTC - rs556405536 FCHSD1 D445Lfs*42 0 0 0.003 0 0 0 0 1 0 0 0 0 333238 chr5 150029172 150029172 G A rs199737717 SYNPO Synonymous SNV A445A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.16 333239 chr5 150946787 150946787 C G FAT2 Nonsynonymous SNV C569S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 333240 chr5 176831310 176831310 G T F12 Nonsynonymous SNV A302E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.643 333241 chr5 36141283 36141283 T C rs766091737 LMBRD2 Synonymous SNV P98P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.193 333242 chr5 6633785 6633785 T C SRD5A1 Nonsynonymous SNV V41A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.118 333243 chr5 70798488 70798488 T C rs200175536 BDP1 Nonsynonymous SNV V704A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 333244 chr5 79372747 79372747 C T rs142782610 THBS4 Synonymous SNV T563T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 333245 chr5 9063165 9063165 G A rs139036304 SEMA5A Synonymous SNV N784N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.567 333246 chr5 94749700 94749700 G A rs199608611 FAM81B Nonsynonymous SNV E115K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 333247 chr5 95297382 95297382 T C ELL2 Nonsynonymous SNV Y15C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 333248 chr6 117662471 117662471 G A rs370393953 ROS1 Nonsynonymous SNV L1636F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 333249 chr6 129759836 129759836 C G rs1035353237 LAMA2 Nonsynonymous SNV A2005G 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333250 chr6 130762003 130762003 A G rs138812949 TMEM200A Nonsynonymous SNV I146V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.192 333251 chr6 145948746 145948746 C T rs748514820 EPM2A Nonsynonymous SNV R187H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333252 chr6 157739883 157739899 GCCCCAGCCCAGAGCTC - rs781531293 TMEM242 R81Lfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 333253 chr6 160182500 160182500 C T SOD2-OT1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.842 333254 chr6 26093177 26093177 T C HFE Nonsynonymous SNV I114T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333255 chr6 26452302 26452302 C T rs138799361 BTN3A3 Nonsynonymous SNV S263L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 333256 chr6 27833138 27833138 G T rs58854344 HIST1H2AL Synonymous SNV S2S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.124 333257 chr6 39158828 39158828 C T rs904770611 KCNK5 Synonymous SNV E446E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.939 333258 chr6 39271893 39271893 C T rs35752113 KCNK17 Synonymous SNV A176A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 333259 chr6 39282096 39282096 T C rs770254034 KCNK17 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 8.407 333260 chr6 43516011 43516011 G C rs761776637 XPO5 Nonsynonymous SNV Q683E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.865 333261 chr6 47976395 47976395 C T rs754096301 PTCHD4 Synonymous SNV L294L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.07 333262 chr7 100679840 100679840 G A rs149023842 MUC17 Nonsynonymous SNV V1715I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.14 333263 chr7 106508643 106508643 A C PIK3CG Nonsynonymous SNV K213Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.687 333264 chr7 121650508 121650508 A T rs149926989 PTPRZ1 Nonsynonymous SNV I470L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.23 333265 chr7 148456722 148456722 A G CUL1 Nonsynonymous SNV Q206R 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 333266 chr7 148801170 148801170 G A rs150412959 ZNF425 Nonsynonymous SNV T598I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 333267 chr7 148985882 148985882 C T rs184328782 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 3.617 333268 chr7 149462483 149462483 G A ZNF467 Nonsynonymous SNV L370F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 333269 chr7 150825708 150825708 G A rs200116364 AGAP3 Synonymous SNV E193E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 333270 chr7 1786093 1786093 G A ELFN1 Nonsynonymous SNV G621S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.386 333271 chr7 2629694 2629694 C T rs186163271 IQCE Synonymous SNV L335L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.428 333272 chr7 27170238 27170238 C G HOXA4 Nonsynonymous SNV G39R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 333273 chr7 2802269 2802269 G A GNA12 Nonsynonymous SNV S85L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.354 333274 chr7 45724598 45724598 G A rs200103818 ADCY1 Synonymous SNV T668T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 333275 chr7 8043667 8043667 G T GLCCI1 Nonsynonymous SNV C196F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 333276 chr7 83029388 83029388 A G rs765714534 SEMA3E Nonsynonymous SNV V381A 0 0 0.003 0 0 0 0 1 0 0 0 0 28 333277 chr7 98800840 98800840 C T rs185607044 KPNA7 Synonymous SNV A30A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.11 333278 chr8 105367309 105367309 G A rs200921068 DCSTAMP Nonsynonymous SNV V412M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.021 333279 chr8 121211681 121211681 A G rs547622694 COL14A1 Synonymous SNV P251P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.846 333280 chr8 121444278 121444278 C T rs140558478 MRPL13 Synonymous SNV S79S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.79 333281 chr8 12586512 12586512 C T LONRF1 Synonymous SNV R625R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.51 333282 chr8 135521937 135521937 G A rs370593589 ZFAT Synonymous SNV G1077G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 333283 chr8 144941016 144941016 T G rs200372671 EPPK1 Nonsynonymous SNV K2136Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333284 chr8 30703672 30703672 C T rs772186690 TEX15 Synonymous SNV E1337E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 333285 chr8 30990014 30990014 C T rs747319628 WRN Stop gain R987X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 50 333286 chr8 61654299 61654299 C T CHD7 Nonsynonymous SNV S103L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 333287 chr8 6699739 6699739 T C rs750071038 GS1-24F4.2 0 0 0.003 0 0 0 0 1 0 0 0 0 0.495 333288 chr9 115336726 115336726 C T KIAA1958 Synonymous SNV F122F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.53 333289 chr9 116260316 116260316 A C rs755577560 RGS3 Synonymous SNV R175R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.032 333290 chr9 134350722 134350722 G A rs377155180 PRRC2B Nonsynonymous SNV R1069H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 333291 chr9 138657014 138657014 C T rs374015551 KCNT1 Synonymous SNV N346N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.16 333292 chr9 140707606 140707606 G C rs33999936 EHMT1 Nonsynonymous SNV V999L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.917 333293 chr9 37782027 37782027 T C rs369665310 EXOSC3 Synonymous SNV G194G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.492 333294 chr9 77567123 77567123 G A C9orf40 Synonymous SNV D135D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.154 333295 chr9 79324973 79324973 C T rs369655221 PRUNE2 Synonymous SNV P739P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.029 333296 chr9 90388155 90388155 G A rs199830304 CTSL3P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.771 333297 chr9 90501245 90501245 C A rs528431699 SPATA31E1 Nonsynonymous SNV L615I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.88 333298 chr9 94486502 94486502 C T rs139915017 ROR2 Synonymous SNV S758S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.91 333299 chrUn_gl000220 122142 122168 TCCTCCTCCTCCTCCTCCTCCTCCTCC - LOC100507412 0 0 0.003 0 0 0 0 1 0 0 0 0 333300 chrX 109694942 109694942 C G rs767811139 RTL9 Nonsynonymous SNV A366G 0 0 0.007 0 0 0 0 2 0 0 1 0 0.247 333301 chrX 117162387 117162387 C T rs749874687 KLHL13 Nonsynonymous SNV R17Q 0 0 0.007 0 0 0 0 2 0 0 1 0 23.7 333302 chrX 123870967 123870967 C A rs149320219 TENM1 Nonsynonymous SNV A206S 0 0 0.007 0 0 0 0 2 0 0 1 0 14.02 333303 chrX 132159941 132159941 T C rs757884699 USP26 Nonsynonymous SNV K770E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.001 333304 chrX 24521499 24521499 A G rs138321172 PDK3 Nonsynonymous SNV M126V 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 22.6 333305 chrX 51150918 51150918 C A EZHIP Synonymous SNV T350T 0 0 0.007 0 0 0 0 2 0 0 1 0 12.05 333306 chr10 105659885 105659885 G A rs772697510 STN1 Nonsynonymous SNV T131M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.84 333307 chr10 11791544 11791544 G C ECHDC3 Nonsynonymous SNV E115Q 0 0 0.003 0 0 0 0 1 0 0 0 0 4.989 333308 chr10 124697236 124697236 C T rs200757228 C10orf88 Nonsynonymous SNV R363H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 333309 chr10 15196993 15197022 CATGGACAAGATGCCAGGACCTGTATGCTT - rs769037417 PPIAP30 0 0 0.003 0 0 0 0 1 0 0 0 0 333310 chr10 30653842 30653842 C T rs12776205 GOLGA2P6 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 333311 chr10 45799046 45799046 G A rs756206147 OR13A1 Synonymous SNV Y275Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.266 333312 chr10 53822310 53822310 G A rs765812630 PRKG1 Nonsynonymous SNV R270H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 333313 chr10 5683750 5683750 C G ASB13 Nonsynonymous SNV C231S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 333314 chr10 75264706 75264706 C T rs995164016 USP54 Nonsynonymous SNV E1343K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333315 chr10 75560908 75560908 G A ZSWIM8 Nonsynonymous SNV G1725S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.857 333316 chr10 77167517 77167517 C T rs552716714 ZNF503-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 333317 chr10 87379726 87379726 T C rs201521845 GRID1 Nonsynonymous SNV D753G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 333318 chr10 88681403 88681403 C T BMPR1A Synonymous SNV Y431Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.972 333319 chr10 91099045 91099045 T C rs754020242 IFIT3 Synonymous SNV V211V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.455 333320 chr11 101981729 101981729 C T rs373593052 YAP1 Synonymous SNV A50A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 333321 chr11 111921960 111921960 A G DLAT Nonsynonymous SNV I467M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.257 333322 chr11 116744290 116744290 C T rs138704851 SIK3 Synonymous SNV R500R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.54 333323 chr11 119167670 119167670 G C CBL Nonsynonymous SNV E693D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 333324 chr11 124670008 124670016 CCGCCACCG - rs775526671 MSANTD2 G88_G90del 0 0 0.003 0 0 0 0 1 0 0 0 0 333325 chr11 124756877 124756877 G A ROBO4 Nonsynonymous SNV P666S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.9 333326 chr11 1272788 1272788 C T rs190158159 MUC5B Nonsynonymous SNV T4893M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.591 333327 chr11 47290220 47290220 C G NR1H3 Synonymous SNV L334L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 333328 chr11 5443995 5443995 C T rs755954185 OR51Q1 Synonymous SNV L189L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 333329 chr11 60620562 60620562 G A rs369565736 PTGDR2 Synonymous SNV L212L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.405 333330 chr11 62557411 62557411 C T rs149169067 TMEM179B Synonymous SNV V129V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.97 333331 chr11 64603760 64603760 G A rs142949080 CDC42BPG Synonymous SNV A499A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.85 333332 chr11 6644643 6644643 C T rs141243126 DCHS1 Nonsynonymous SNV R2755H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.3 333333 chr11 783887 783887 C T rs72844791 LOC171391 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 333334 chr11 84996296 84996296 G C DLG2 Nonsynonymous SNV P89A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 333335 chr11 85436356 85436356 G A SYTL2 Stop gain Q1349X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333336 chr12 112237672 112237672 G A rs369822900 MIR6761 0 0 0.003 0 0 0 0 1 0 0 0 0 0.591 333337 chr12 112589777 112589777 G A rs147583199 TRAFD1 Synonymous SNV P484P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.805 333338 chr12 119957953 119957953 G A rs984541999 CCDC60 Synonymous SNV K332K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.414 333339 chr12 122255446 122255446 T C SETD1B Nonsynonymous SNV S1050P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.221 333340 chr12 131490581 131490581 C T rs145065464 ADGRD1 Synonymous SNV P440P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 333341 chr12 132853945 132853945 G A rs138131736 LOC100130238 0 0 0.003 0 0 0 0 1 0 0 0 0 1.02 333342 chr12 21615735 21615735 A G rs151265631 PYROXD1 Nonsynonymous SNV D93G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 333343 chr12 43887052 43887052 G C rs542752462 ADAMTS20 Nonsynonymous SNV A291G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 333344 chr12 53170526 53170526 G A rs762654173 KRT76 Nonsynonymous SNV R184W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333345 chr12 56628733 56628733 C T rs759059162 SLC39A5 Synonymous SNV G199G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.37 333346 chr12 6091147 6091147 C T VWF Synonymous SNV K2364K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.95 333347 chr12 6729974 6729974 C G LPAR5 Synonymous SNV A147A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 333348 chr12 70070694 70070694 A G rs770481382 BEST3 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 333349 chr12 7635291 7635291 G A rs763870346 CD163 Synonymous SNV F1065F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.575 333350 chr12 89916965 89916965 C T rs372635919 GALNT4, POC1B-GALNT4 Synonymous SNV S454S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.618 333351 chr12 89918231 89918231 A G GALNT4 Synonymous SNV F32F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.508 333352 chr12 93771509 93771509 G C LOC643339 0 0 0.003 0 0 0 0 1 0 0 0 0 3.594 333353 chr12 94645219 94645219 G A rs143667616 PLXNC1 Synonymous SNV L932L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 333354 chr12 96354236 96354236 G T rs143136011 AMDHD1 Nonsynonymous SNV K216N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.549 333355 chr13 115090996 115090996 T C rs200854460 CHAMP1 Nonsynonymous SNV F560S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 333356 chr13 49705285 49705285 A C FNDC3A Nonsynonymous SNV N33H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 333357 chr13 77460164 77460164 C A rs568420032 KCTD12 Synonymous SNV V40V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 333358 chr13 95118864 95118864 G T DCT Nonsynonymous SNV A215E 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333359 chr14 101452464 101452464 G A rs749944429 SNORD114-25 0 0 0.003 0 0 0 0 1 0 0 0 0 1.834 333360 chr14 21542740 21542740 G A rs45519335 ARHGEF40 Nonsynonymous SNV R284Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 333361 chr14 23353936 23353936 C T rs773368193 REM2 Nonsynonymous SNV R53W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 333362 chr14 23746169 23746169 G A HOMEZ Synonymous SNV L90L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.156 333363 chr14 33204884 33204884 C A rs199940158 AKAP6 Synonymous SNV I1056I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 333364 chr14 45654570 45654570 A G rs149654959 FANCM Nonsynonymous SNV I1530V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.451 333365 chr14 58820379 58820379 A G rs142244405 ARID4A Synonymous SNV E553E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.015 333366 chr14 64586295 64586295 A T rs144392904 SYNE2 Nonsynonymous SNV M4331L 0 0 0.007 0 0 0 0 2 0 0 0 0 0.276 333367 chr14 65198182 65198182 G A rs976863782 PLEKHG3 Nonsynonymous SNV R318K 0 0 0.003 0 0 0 0 1 0 0 0 0 21 333368 chr14 69347641 69347641 C T rs139138798 ACTN1 Synonymous SNV Q673Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.98 333369 chr14 92600497 92600497 A G rs748515128 CPSF2 Nonsynonymous SNV M98V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 333370 chr14 94582215 94582215 G - IFI27 G29Afs*50 0 0 0.003 0 0 0 0 1 0 0 0 0 333371 chr14 99982525 99982525 G A rs374451271 CCDC85C Synonymous SNV N390N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.38 333372 chr15 100269353 100269353 C T rs755305352 LYSMD4 Nonsynonymous SNV S228N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 333373 chr15 25436635 25436635 G A rs548464387 SNORD115-10, SNORD115-12, SNORD115-5, SNORD115-9 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 333374 chr15 31521493 31521493 C G rs34462272 LOC283710 Nonsynonymous SNV R30T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.96 333375 chr15 33445376 33445376 C T rs979850205 FMN1 Synonymous SNV T580T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.84 333376 chr15 33961634 33961634 A G rs751260751 RYR3 Nonsynonymous SNV H1900R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 333377 chr15 40591042 40591042 G A rs201038193 PLCB2 Synonymous SNV G269G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 333378 chr15 85402475 85402475 C T ALPK3 Synonymous SNV A1475A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.95 333379 chr15 89450468 89450468 A G rs144515829 MFGE8 Synonymous SNV N71N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.115 333380 chr15 90164726 90164726 G A rs201761582 TICRR Nonsynonymous SNV R1085Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 333381 chr16 2226328 2226328 C T rs74573292 TRAF7 Synonymous SNV T647T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.199 333382 chr16 2347393 2347393 C T rs776927506 ABCA3 Nonsynonymous SNV A734T 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333383 chr16 29675070 29675070 C A SPN Synonymous SNV L7L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 333384 chr16 48250180 48250180 C T rs778181252 ABCC11 Nonsynonymous SNV G266S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.051 333385 chr16 59788717 59788717 T G rs186200861 APOOP5 0 0 0.003 0 0 0 0 1 0 0 0 0 7.818 333386 chr16 85952403 85952403 T G rs202046728 IRF8 Nonsynonymous SNV F124V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 22.4 333387 chr16 88504766 88504766 C T rs200668806 ZNF469 Nonsynonymous SNV R3630C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.9 333388 chr16 89346153 89346153 G A rs748996527 ANKRD11 Nonsynonymous SNV A2266V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.43 333389 chr17 11725868 11725868 A T DNAH9 Synonymous SNV A2988A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.086 333390 chr17 1373945 1373945 G A rs150948604 MYO1C Nonsynonymous SNV R751W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333391 chr17 15983349 15983349 T C NCOR1 Nonsynonymous SNV I1160V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 333392 chr17 17124804 17124804 C T rs142934950 FLCN Stop gain W306X 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.991 333393 chr17 17948471 17948471 C T rs765753088 GID4 Nonsynonymous SNV T150M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 333394 chr17 27066165 27066165 G T rs146125605 NEK8 Nonsynonymous SNV V455L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 333395 chr17 4462691 4462691 C G GGT6 Nonsynonymous SNV G129A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 333396 chr17 60038278 60038278 T C rs763104777 MED13 Synonymous SNV L1810L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.977 333397 chr17 61681940 61681940 A G rs149794197 TACO1 Synonymous SNV L109L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 1.283 333398 chr17 7005034 7005034 T C ASGR2 Nonsynonymous SNV N247D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333399 chr17 72342664 72342664 G T rs563783480 KIF19 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 333400 chr17 72938012 72938012 C T rs761729278 OTOP3 Synonymous SNV F151F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 333401 chr17 73566076 73566076 G A rs370262429 LLGL2 Synonymous SNV A538A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.8 333402 chr17 74475291 74475291 C T RHBDF2 Nonsynonymous SNV S114N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 333403 chr17 7483022 7483022 G C rs923135296 CD68 Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.213 333404 chr17 76388712 76388712 T C rs756084405 PGS1 Nonsynonymous SNV L100P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 333405 chr17 78063666 78063666 G A rs750063649 CCDC40 Nonsynonymous SNV E939K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333406 chr17 8216419 8216419 G A rs773458439 ARHGEF15 Nonsynonymous SNV V261I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 333407 chr17 8272930 8272930 A G KRBA2 Nonsynonymous SNV V252A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 333408 chr18 2666894 2666894 C T rs369550628 SMCHD1 Synonymous SNV T96T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.6 333409 chr18 32470290 32470290 C T rs530439494 DTNA Synonymous SNV L687L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.49 333410 chr18 53070883 53070883 G A rs746524299 TCF4 Synonymous SNV C21C 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 333411 chr18 6985279 6985279 C T rs745499241 LAMA1 Nonsynonymous SNV D1873N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 333412 chr18 6997770 6997770 T C rs758383521 LAMA1 Nonsynonymous SNV N1593D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.015 333413 chr18 7034556 7034556 T C LAMA1 Nonsynonymous SNV Q658R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 333414 chr19 1468427 1468427 G A rs200766407 APC2 Synonymous SNV E1708E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.467 333415 chr19 15648179 15648179 C T rs762003020 CYP4F22 Synonymous SNV I125I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 333416 chr19 1805897 1805897 C T rs369358662 ATP8B3 Nonsynonymous SNV D218N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 333417 chr19 1823686 1823686 C T rs763253399 REXO1 Synonymous SNV S705S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 333418 chr19 1953471 1953471 G C CSNK1G2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.349 333419 chr19 22786190 22786190 C G rs59866454 GOLGA2P9 0 0 0.003 0 0 0 0 1 0 0 0 0 1.885 333420 chr19 24309618 24309618 T G rs10421408 ZNF254 Synonymous SNV G187G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.277 333421 chr19 30935863 30935863 C A rs200494382 ZNF536 Nonsynonymous SNV A465E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.525 333422 chr19 34003503 34003503 C T rs753859371 PEPD Nonsynonymous SNV R66H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333423 chr19 39008304 39008304 G A rs754426488 RYR1 Nonsynonymous SNV E3331K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333424 chr19 41084096 41084096 G A rs769111493 SHKBP1 Synonymous SNV Q99Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.835 333425 chr19 47285802 47285802 G C rs140908383 SLC1A5 Nonsynonymous SNV P19R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.98 333426 chr19 50162870 50162871 AG - rs796264933 IRF3 P445Rfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 333427 chr19 50496131 50496131 C T rs758066244 VRK3 Nonsynonymous SNV E267K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 333428 chr19 51629083 51629083 C G rs766084177 SIGLEC9 Nonsynonymous SNV F217L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 333429 chr19 53855258 53855258 T A ZNF845 Nonsynonymous SNV C444S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 333430 chr19 54080345 54080345 T C ZNF331 Synonymous SNV H177H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.393 333431 chr19 57133771 57133771 C T ZNF71 Synonymous SNV H372H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.3 333432 chr19 5778544 5778544 G A rs375111616 CATSPERD Nonsynonymous SNV G752S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333433 chr1 109358862 109358862 A C AKNAD1 Nonsynonymous SNV D814E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 333434 chr1 110033720 110033720 G C rs370063225 ATXN7L2 Nonsynonymous SNV G544A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.89 333435 chr1 111494347 111494347 G T LRIF1 Nonsynonymous SNV P387T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 333436 chr1 115144142 115144142 T C rs202049154 DENND2C Nonsynonymous SNV N544S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 333437 chr1 116943744 116943744 C T rs762463400 ATP1A1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.81 333438 chr1 120462038 120462038 G A NOTCH2 Nonsynonymous SNV A1893V 0 0 0.003 0 0 0 0 1 0 0 0 0 33 333439 chr1 146650704 146650704 A C rs587636296 PDIA3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.332 333440 chr1 152083974 152083976 CTC - rs750682194 TCHH E573del 0 0 0.003 0 0 0 0 1 0 0 0 0 333441 chr1 17281832 17281832 G A rs145972878 CROCC Nonsynonymous SNV R1164H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 333442 chr1 19465698 19465698 G A rs369965775 UBR4 Synonymous SNV D2870D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.96 333443 chr1 197029627 197029628 TG - rs761863715 F13B H225Sfs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 333444 chr1 197029629 197029629 - TT rs765777778 F13B Frameshift insertion F224Lfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 333445 chr1 202571629 202571629 G A SYT2 Synonymous SNV D170D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 333446 chr1 204228442 204228442 C T PLEKHA6 Synonymous SNV Q317Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 333447 chr1 214501062 214501064 GAG - SMYD2 E235del 0 0 0.003 0 0 0 0 1 0 0 0 0 333448 chr1 225592328 225592328 G A rs753611856 LBR Nonsynonymous SNV H522Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333449 chr1 228506829 228506829 G T rs753826986 OBSCN Synonymous SNV L4792L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.67 333450 chr1 23420277 23420277 C G LUZP1 Nonsynonymous SNV V160L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 333451 chr1 236145040 236145040 C T rs142891889 NID1 Nonsynonymous SNV R1033H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333452 chr1 24137259 24137259 A G rs112508527 HMGCL Synonymous SNV Y176Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.783 333453 chr1 27101624 27101624 C G ARID1A Nonsynonymous SNV R1636G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 333454 chr1 33236965 33236965 C T rs759697137 KIAA1522 Nonsynonymous SNV P670S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 333455 chr1 36215284 36215284 G A CLSPN Synonymous SNV L655L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 333456 chr1 52824024 52824024 C T rs140467530 CC2D1B Synonymous SNV P480P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 333457 chr1 53569121 53569121 G A rs776284907 SLC1A7 Synonymous SNV F126F 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 333458 chr1 53580454 53580454 G A rs777930839 SLC1A7 Nonsynonymous SNV A136V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 333459 chr1 59042259 59042259 G T rs144704520 TACSTD2 Nonsynonymous SNV F190L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 333460 chr1 60520988 60520988 G A rs144671684 C1orf87 Nonsynonymous SNV T77I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.072 333461 chr1 65098333 65098333 T C rs138951703 CACHD1 Synonymous SNV I232I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.844 333462 chr1 75037896 75037896 C T rs200380141 ERICH3 Synonymous SNV S1166S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 333463 chr1 75038091 75038091 T C rs200770042 ERICH3 Synonymous SNV E1101E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 333464 chr20 18143326 18143326 C T rs770062188 KAT14 Synonymous SNV L470L 0 0 0.007 0 0 0 0 2 0 0 0 0 10.03 333465 chr20 25456703 25456703 T C rs770858371 NINL Nonsynonymous SNV H1075R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.113 333466 chr20 2945549 2945549 C T rs780890496 PTPRA Nonsynonymous SNV T39M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.46 333467 chr20 3672652 3672652 G A rs200539652 SIGLEC1 Nonsynonymous SNV R1410W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 333468 chr20 37058415 37058415 C G SNORA71C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.46 333469 chr20 37546940 37546940 G C PPP1R16B Nonsynonymous SNV W403C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 333470 chr20 61444293 61444293 C T rs369584403 OGFR Synonymous SNV P442P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.168 333471 chr20 62175669 62175669 G A rs768456130 SRMS Nonsynonymous SNV A130V 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 333472 chr20 62320931 62320931 T C rs148080505 RTEL1 Nonsynonymous SNV M429T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 13.46 333473 chr21 38308855 38308855 C T rs146030669 HLCS Nonsynonymous SNV R444Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.195 333474 chr21 38545010 38545010 G A TTC3 Synonymous SNV L805L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 333475 chr21 39671202 39671202 G A rs199604899 KCNJ15 Nonsynonymous SNV G7S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333476 chr21 40190552 40190552 T C ETS2 Synonymous SNV L265L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.87 333477 chr22 29177074 29177074 A G rs112733786 CCDC117 Synonymous SNV L108L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.86 333478 chr22 30221168 30221168 C T rs758933414 ASCC2 Nonsynonymous SNV A54T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.7 333479 chr22 31032490 31032490 T C rs557398990 SLC35E4 Nonsynonymous SNV V18A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 333480 chr22 31487678 31487678 C T rs748870006 SMTN Nonsynonymous SNV R549W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333481 chr22 31533947 31533947 C T rs140520368 PLA2G3 Nonsynonymous SNV R272H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333482 chr22 37888719 37888719 G A rs751254949 CARD10 Nonsynonymous SNV A856V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 333483 chr22 38481312 38481312 G A rs201660818 BAIAP2L2 Nonsynonymous SNV R529C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333484 chr22 39078010 39078010 T G rs202183013 TOMM22 Synonymous SNV G9G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.153 333485 chr22 45564072 45564072 A G rs762556568 NUP50 Nonsynonymous SNV N5S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.344 333486 chr2 110065918 110065918 C T rs373410879 SH3RF3 Synonymous SNV C707C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.765 333487 chr2 110259207 110259207 C T rs369772984 SH3RF3 Nonsynonymous SNV R870C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333488 chr2 111399735 111399735 A T BUB1 Nonsynonymous SNV D788E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.684 333489 chr2 111423855 111423855 G C rs1801423 BUB1 Synonymous SNV S294S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.26 333490 chr2 118693133 118693133 G A rs372727967 CCDC93 Nonsynonymous SNV R556W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333491 chr2 128914888 128914888 C T rs149918050 UGGT1 Nonsynonymous SNV R775W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333492 chr2 128918118 128918118 G A rs201393910 UGGT1 Nonsynonymous SNV V883I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 333493 chr2 173955830 173955830 G C rs201411802 MAP3K20 Nonsynonymous SNV G24A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 333494 chr2 202523219 202523219 G A rs371171446 MPP4 Synonymous SNV Y370Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.271 333495 chr2 204305867 204305867 G A rs140045631 RAPH1 Synonymous SNV A682A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.248 333496 chr2 204313480 204313480 T C rs201565612 RAPH1 Nonsynonymous SNV N498S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 333497 chr2 215610562 215610562 C T rs146946984 BARD1 Nonsynonymous SNV R95H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.3 333498 chr2 231742770 231742770 G C ITM2C Nonsynonymous SNV E207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 333499 chr2 234590727 234590727 C T rs140853286 UGT1A7 Synonymous SNV L48L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.077 333500 chr2 26418043 26418043 G A rs763333426 HADHA Nonsynonymous SNV T513M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 333501 chr2 27310140 27310140 C G rs1049907312 KHK Nonsynonymous SNV Q5E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 333502 chr2 32689664 32689664 C T rs752832162 BIRC6 Nonsynonymous SNV P1677S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 333503 chr2 33413653 33413653 C G rs202164294 LTBP1 Nonsynonymous SNV P153R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 333504 chr2 39526905 39526905 C A rs759097093 MAP4K3 Nonsynonymous SNV G365V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.86 333505 chr2 40656635 40656635 G C rs1024018794 SLC8A1 Synonymous SNV V262V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 333506 chr2 61749804 61749804 T C rs76607520 XPO1 Synonymous SNV Q81Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.039 333507 chr2 70439866 70439866 C A rs746021823 TIA1 Synonymous SNV G306G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.02 333508 chr2 73718180 73718180 G T ALMS1 Nonsynonymous SNV A3031S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 333509 chr2 8890440 8890440 G T rs376785899 KIDINS220 Synonymous SNV I1073I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.906 333510 chr2 96992531 96992531 G C ITPRIPL1 Synonymous SNV L62L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 333511 chr2 97355009 97355009 C T FER1L5 Synonymous SNV P807P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.12 333512 chr2 97357231 97357231 C T rs755160795 FER1L5 Nonsynonymous SNV S986F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.71 333513 chr3 101304299 101304299 C G rs761931267 PCNP Nonsynonymous SNV P100A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 333514 chr3 10400409 10400409 C A ATP2B2 Nonsynonymous SNV C656F 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 333515 chr3 111342636 111342636 G T rs200767318 CD96 Nonsynonymous SNV V406L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.034 333516 chr3 113377927 113377927 C T USF3 Nonsynonymous SNV G868S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.52 333517 chr3 121341467 121341467 G C rs149191160 FBXO40 Nonsynonymous SNV K397N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.877 333518 chr3 12872995 12872995 C T rs75387493 CAND2 Nonsynonymous SNV A1019V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 34 333519 chr3 157155671 157155671 A G rs191352729 PTX3 Nonsynonymous SNV Q167R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.145 333520 chr3 158450192 158450192 G A RARRES1 Nonsynonymous SNV R5W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 333521 chr3 195798291 195798291 C T rs142709816 TFRC Synonymous SNV A140A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.68 333522 chr3 195936358 195936358 C T ZDHHC19 Synonymous SNV V99V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 333523 chr3 44684550 44684550 T A ZNF197, ZNF660-ZNF197 Nonsynonymous SNV L430H 0 0 0.003 0 0 0 0 1 0 0 0 0 26 333524 chr3 52362006 52362006 C T rs371481904 DNAH1 Nonsynonymous SNV P283S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.88 333525 chr3 58256757 58256757 G A rs748212605 ABHD6 Synonymous SNV S163S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 333526 chr4 114213639 114213639 A G rs754601230 ANK2 Nonsynonymous SNV Q712R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 333527 chr4 114275991 114275991 A G rs749398563 ANK2 Nonsynonymous SNV I2073V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333528 chr4 147830332 147830332 G A rs766020794 TTC29 Synonymous SNV T82T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 333529 chr4 183659642 183659642 G A rs763457601 TENM3 Synonymous SNV A1108A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.216 333530 chr4 187518196 187518196 C T rs60404529 FAT1 Synonymous SNV A4166A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.93 333531 chr4 2597836 2597836 A G rs753951875 FAM193A Nonsynonymous SNV H37R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 333532 chr4 3231619 3231619 A G rs536877956 HTT Synonymous SNV L2705L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.084 333533 chr4 39846335 39846335 C T rs766226294 PDS5A Synonymous SNV E1163E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 333534 chr4 44177079 44177079 G A KCTD8 Nonsynonymous SNV P384S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 333535 chr4 55593431 55593431 G A rs72550822 KIT Nonsynonymous SNV V530I 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.24 333536 chr4 73957567 73957567 C A rs111688196 ANKRD17 Synonymous SNV P1675P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 333537 chr4 73986805 73986805 A G rs113746623 ANKRD17 Synonymous SNV G963G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 333538 chr4 77661468 77661468 C A SHROOM3 Nonsynonymous SNV S714R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.05 333539 chr4 77661469 77661469 C A rs111815461 SHROOM3 Nonsynonymous SNV H715N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.96 333540 chr5 138268311 138268311 A G rs75050399 CTNNA1 Synonymous SNV Q298Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.645 333541 chr5 138739738 138739738 G A SPATA24 Synonymous SNV P4P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.08 333542 chr5 150133040 150133040 C T DCTN4 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333543 chr5 161324167 161324167 A C GABRA1 Synonymous SNV P370P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.097 333544 chr5 172581379 172581379 C T rs780904161 BNIP1 Nonsynonymous SNV L78F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 333545 chr5 176938829 176938829 C T rs770220016 DDX41 Nonsynonymous SNV R485H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333546 chr5 179105727 179105727 G A rs546644235 CBY3 Nonsynonymous SNV R196C 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 333547 chr5 54922404 54922404 C T rs200230756 SLC38A9 Nonsynonymous SNV R472H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 333548 chr5 6739923 6739923 C T rs532305230 TENT4A Synonymous SNV N322N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 333549 chr5 75948599 75948599 C T rs375342547 IQGAP2 Nonsynonymous SNV R203W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 333550 chr5 82815829 82815829 G C VCAN Nonsynonymous SNV E568D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.663 333551 chr5 82836403 82836403 C T rs149880697 VCAN Synonymous SNV F1540F 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.447 333552 chr6 116600279 116600279 G A rs150144081 TSPYL1 Synonymous SNV L239L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 333553 chr6 116783271 116783271 C T CALHM6 Nonsynonymous SNV A60V 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 333554 chr6 131277349 131277349 C T rs149339129 EPB41L2 Nonsynonymous SNV A93T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 333555 chr6 157963702 157963702 C T ZDHHC14 Nonsynonymous SNV R111C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333556 chr6 26104247 26104247 G A rs768884406 HIST1H4C Synonymous SNV R24R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.492 333557 chr6 27729618 27729618 C G LOC100131289 0 0 0.003 0 0 0 0 1 0 0 0 0 8.093 333558 chr6 35259398 35259398 G T rs765964326 ZNF76 Nonsynonymous SNV R272L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.73 333559 chr6 35289041 35289041 C T rs767334980 DEF6 Nonsynonymous SNV R584C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 333560 chr6 36238322 36238322 C T rs560901405 PNPLA1 Nonsynonymous SNV A29V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 333561 chr6 74201999 74201999 A G MTO1 Synonymous SNV S560S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.99 333562 chr7 117251785 117251785 G A rs756579825 CFTR Nonsynonymous SNV R1097H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333563 chr7 127638122 127638122 A G rs759433734 SND1-IT1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 333564 chr7 139762485 139762485 C T rs764454335 PARP12 Nonsynonymous SNV A55T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.888 333565 chr7 142749695 142749695 C T rs61997195 OR6V1 Synonymous SNV P86P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 333566 chr7 142749928 142749928 T C rs61736210 OR6V1 Nonsynonymous SNV L164P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 333567 chr7 142750243 142750243 G A rs7791886 OR6V1 Nonsynonymous SNV R269K 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 333568 chr7 142750355 142750355 G A rs7792047 OR6V1 Synonymous SNV L306L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.465 333569 chr7 142759716 142759716 C T rs61739255 OR6W1P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 333570 chr7 143042819 143042819 T C rs73726622 CLCN1 Synonymous SNV D712D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.42 333571 chr7 150932381 150932381 T G rs771016614 CHPF2 Nonsynonymous SNV F171V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.75 333572 chr7 150932382 150932382 T C rs776746591 CHPF2 Nonsynonymous SNV F171S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 333573 chr7 1512745 1512745 G A rs747351851 INTS1 Synonymous SNV D2011D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.721 333574 chr7 1518381 1518381 G A rs750218636 INTS1 Synonymous SNV A1490A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.078 333575 chr7 2565088 2565088 C T rs202052038 LFNG Nonsynonymous SNV R208W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 333576 chr7 30638459 30638459 C T rs369898799 GARS Synonymous SNV D36D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 16 333577 chr7 73790424 73790424 G A rs202242032 CLIP2 Nonsynonymous SNV D530N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 333578 chr7 87178750 87178750 G A rs199852575 ABCB1 Nonsynonymous SNV R547C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333579 chr7 98507891 98507891 G A rs145259394 TRRAP Synonymous SNV P521P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.313 333580 chr7 99711332 99711332 G A rs141220692 TAF6 Nonsynonymous SNV R139W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333581 chr8 144653140 144653140 G A MROH6 Synonymous SNV S209S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 333582 chr8 144803788 144803788 G A rs35834318 MAPK15 Nonsynonymous SNV G425E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333583 chr8 144996248 144996248 G A rs782485083 PLEC Nonsynonymous SNV R2567W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.9 333584 chr8 144996355 144996355 C T rs782020198 PLEC Nonsynonymous SNV R2531Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 333585 chr8 145698311 145698311 G A rs375417366 KIFC2 Synonymous SNV A665A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 333586 chr8 145700135 145700135 C A rs748921328 FOXH1 Nonsynonymous SNV G195V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 333587 chr8 145741542 145741542 C T rs748212145 RECQL4 Nonsynonymous SNV G321R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.002 333588 chr8 145742011 145742011 C T rs368335924 RECQL4 Synonymous SNV E164E 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.815 333589 chr8 145947776 145947776 G A rs2722468 ZNF251 Synonymous SNV H423H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.246 333590 chr8 145948372 145948372 T C ZNF251 Nonsynonymous SNV S225G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.224 333591 chr8 146076674 146076674 C G rs75237874 COMMD5 Nonsynonymous SNV S17T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.238 333592 chr8 2071186 2071186 C A rs139807442 MYOM2 Nonsynonymous SNV T1172K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.129 333593 chr8 23167422 23167422 C T rs147933412 LOXL2 Nonsynonymous SNV A547T 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 333594 chr8 27321214 27321214 G C CHRNA2 Nonsynonymous SNV A249G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 333595 chr8 39468155 39468155 C A rs142169302 ADAM18 Nonsynonymous SNV S151Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.458 333596 chr8 48879924 48879924 G T MCM4 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 333597 chr8 67834756 67834756 C T rs770071411 SNORD87 0 0 0.003 0 0 0 0 1 0 0 0 0 19.98 333598 chr8 72875253 72875253 G A rs762863764 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.043 333599 chr8 77776545 77776545 A G ZFHX4 Nonsynonymous SNV Q3532R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 333600 chr9 107602586 107602586 G A rs200030513 ABCA1 Nonsynonymous SNV A343V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.7 333601 chr9 122075541 122075541 G T rs368759599 BRINP1 Nonsynonymous SNV D31E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.693 333602 chr9 126125319 126125319 C T rs140031022 CRB2 Synonymous SNV T90T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.47 333603 chr9 130507175 130507175 G A rs2233511 SH2D3C Nonsynonymous SNV P332S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 333604 chr9 139228940 139228940 C T GPSM1 Synonymous SNV G35G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 333605 chr9 139265405 139265405 C T rs201802044 CARD9 Nonsynonymous SNV S172N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.455 333606 chr9 399221 399221 G A rs528879050 DOCK8 Nonsynonymous SNV G966S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 333607 chr9 79952171 79952171 A T VPS13A Synonymous SNV R1993R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.505 333608 chr9 8486132 8486132 G C rs144111555 PTPRD Synonymous SNV L895L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 4.396 333609 chr9 91991904 91991904 C T rs764592119 SEMA4D Nonsynonymous SNV G576R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.851 333610 chr9 990852 990852 G A rs144093358 DMRT3 Synonymous SNV S422S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.126 333611 chrX 138733889 138733889 G T MCF2 Synonymous SNV A5A 0 0 0.007 0 0 0 0 2 0 0 1 0 0.287 333612 chr10 105110671 105110671 C G PCGF6 Synonymous SNV T51T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.089 333613 chr10 115609357 115609357 C T rs370292907 DCLRE1A Nonsynonymous SNV A503T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.908 333614 chr10 124896671 124896671 G A rs375092158 HMX3 Synonymous SNV E166E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.075 333615 chr10 129172418 129172418 T C rs770389109 DOCK1 Synonymous SNV Y1205Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.538 333616 chr10 23482176 23482176 C T PTF1A Synonymous SNV G239G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.99 333617 chr10 27368042 27368042 G C rs777702991 ANKRD26 Nonsynonymous SNV D263E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.001 333618 chr10 459941 459941 T C rs140052373 DIP2C Synonymous SNV A323A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.754 333619 chr10 50824577 50824577 C T rs776042082 CHAT Nonsynonymous SNV L106F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 4.858 333620 chr10 74874194 74874194 T C rs143864075 NUDT13 Nonsynonymous SNV V24A 0 0 0.003 0 0 0 0 1 0 0 0 0 25 333621 chr10 75185749 75185749 G A rs140936768 MSS51 Nonsynonymous SNV R297C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 333622 chr11 1019369 1019369 G A rs374926429 MUC6 Synonymous SNV T1312T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.353 333623 chr11 1095270 1095270 G A rs368151900 MUC2 Synonymous SNV T2030T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.446 333624 chr11 1103562 1103562 T A rs72655356 MUC2 Nonsynonymous SNV I2692N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 333625 chr11 117335711 117335711 C T rs753409238 DSCAML1 Nonsynonymous SNV R1071Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 333626 chr11 118178012 118178012 G T rs914391006 CD3E Nonsynonymous SNV W20L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 333627 chr11 118984329 118984329 T A C2CD2L Nonsynonymous SNV S466T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333628 chr11 120351975 120351975 A G rs772532659 ARHGEF12 Nonsynonymous SNV Y1396C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.29 333629 chr11 123489821 123489821 C A rs751226857 GRAMD1B Synonymous SNV P632P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.39 333630 chr11 125548066 125548068 GAA - ACRV1 S60del 0 0 0.003 0 0 0 0 1 0 0 0 0 333631 chr11 1272400 1272400 G A rs778650701 MUC5B Nonsynonymous SNV V4764I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.57 333632 chr11 17615665 17615665 A G rs779322374 OTOG Synonymous SNV L1132L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.784 333633 chr11 32456836 32456836 C T WT1 Nonsynonymous SNV R24H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333634 chr11 33891081 33891081 C A rs750749054 LMO2 Nonsynonymous SNV R20L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 333635 chr11 36596041 36596041 G C RAG1 Nonsynonymous SNV R396P 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 333636 chr11 554179 554179 G C rs367633088 LRRC56 Nonsynonymous SNV R511P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.751 333637 chr11 56113896 56113896 C T rs772960419 OR8K1 Nonsynonymous SNV R128C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 333638 chr11 56185448 56185448 C A OR5R1 Synonymous SNV V87V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.185 333639 chr11 62521093 62521093 C T rs753306811 ZBTB3 Nonsynonymous SNV R15Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 333640 chr11 64022277 64022277 C T PLCB3 Nonsynonymous SNV R79C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 333641 chr11 65780413 65780413 G A CST6 Synonymous SNV A119A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 333642 chr11 6789287 6789287 A G rs143791296 OR2AG2 Nonsynonymous SNV L301S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 333643 chr11 70007397 70007397 T C rs966657602 ANO1 Nonsynonymous SNV I570T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.54 333644 chr11 77531738 77531738 G A RSF1 Nonsynonymous SNV A8V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 333645 chr12 100561187 100561187 C T GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 9.574 333646 chr12 26218199 26218199 T A RASSF8 Nonsynonymous SNV V291D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 333647 chr12 49426628 49426645 GCTGTTGCTGCTGTTGAA - rs762810380 KMT2D L3948_Q3953del 0 0 0.003 0 0 0 0 1 0 0 0 0 333648 chr12 53164941 53164941 G A rs200722310 KRT76 Synonymous SNV D442D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.22 333649 chr12 57587044 57587044 C A rs144347808 LRP1 Synonymous SNV V2547V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 333650 chr12 58025011 58025011 C G rs555516436 B4GALNT1 Nonsynonymous SNV E119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 333651 chr12 66638371 66638371 C G rs777488593 IRAK3 Synonymous SNV T270T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.054 333652 chr12 93210043 93210043 G A rs1039561890 EEA1 Nonsynonymous SNV T621I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333653 chr12 9345235 9345235 C T rs773917646 PZP Nonsynonymous SNV G452E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 333654 chr13 23912167 23912167 C T rs370902090 SACS Nonsynonymous SNV D1803N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.11 333655 chr13 46563128 46563128 C A rs11537603 ZC3H13 Nonsynonymous SNV R350L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.3 333656 chr14 103395798 103395798 C T rs1053967680 AMN Nonsynonymous SNV P229S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 333657 chr14 20924117 20924118 AA - rs764279183 APEX1 K35Rfs*11 0 0 0.003 0 0 0 0 1 0 0 0 0 333658 chr14 61186504 61186504 G T SIX4 Nonsynonymous SNV P508H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 333659 chr14 61186598 61186598 G C SIX4 Nonsynonymous SNV Q477E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333660 chr14 61445982 61445982 G A rs757187601 TRMT5 Stop gain R240X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 333661 chr14 75247188 75247188 A G YLPM1 Synonymous SNV R397R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.566 333662 chr14 95107918 95107918 T C rs149856507 SERPINA13P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.16 333663 chr15 100591780 100591780 C T rs368919558 ADAMTS17 Nonsynonymous SNV G818R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333664 chr15 28422144 28422144 G A rs569987062 HERC2 Synonymous SNV Y3128Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.55 333665 chr15 42178014 42178014 T C rs186590035 SPTBN5 Nonsynonymous SNV E480G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 333666 chr15 43527059 43527059 G A rs777999621 TGM5 Nonsynonymous SNV R513C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333667 chr15 56208272 56208272 C T NEDD4 Nonsynonymous SNV S253N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 333668 chr15 63092686 63092686 T C rs75499542 TLN2 Synonymous SNV A2118A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 5.781 333669 chr15 66639561 66639561 G A rs200612645 SCARNA14 0 0 0.003 0 0 0 0 1 0 0 0 0 18.83 333670 chr15 73575376 73575376 G C rs370070811 NEO1 Nonsynonymous SNV V1101L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 333671 chr15 78889034 78889034 C A rs201426786 CHRNA3 Nonsynonymous SNV R477L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333672 chr16 13002396 13002396 C T SHISA9 Synonymous SNV A208A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.793 333673 chr16 1413077 1413077 G A rs141807632 GNPTG Synonymous SNV L301L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.056 333674 chr16 2205300 2205300 T G rs778402543 SNHG19 0 0 0.003 0 0 0 0 1 0 0 0 0 6.535 333675 chr16 2867326 2867326 G A rs376418132 PRSS21 Synonymous SNV R19R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.97 333676 chr16 2988186 2988186 T G FLYWCH1 Nonsynonymous SNV D593E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333677 chr16 30958433 30958433 G A rs746813130 FBXL19 Nonsynonymous SNV R656H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333678 chr16 3614592 3614592 C T rs762408513 NLRC3 Nonsynonymous SNV G116R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 333679 chr16 54279619 54279619 G T LINC02169 0 0 0.003 0 0 0 0 1 0 0 0 0 0.392 333680 chr16 626237 626237 C G rs145216283 PIGQ Nonsynonymous SNV L309V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.8 333681 chr16 67973998 67973998 C T rs145126045 LCAT Nonsynonymous SNV E378K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 333682 chr16 68013570 68013570 C T rs200922436 DPEP3 Nonsynonymous SNV R129K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.45 333683 chr16 69369240 69369240 G A rs113642086 COG8 Synonymous SNV N199N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 4.678 333684 chr16 70546322 70546322 A G rs376885733 COG4 Synonymous SNV D182D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.876 333685 chr16 86544273 86544273 C G rs754117677 FOXF1 Nonsynonymous SNV P33R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 333686 chr17 27903655 27903655 G A rs376860718 GIT1 Nonsynonymous SNV T422M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 333687 chr17 3514160 3514160 G C SHPK Nonsynonymous SNV H377Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 333688 chr17 3599662 3599662 C G rs8066216 P2RX5-TAX1BP3 0 0 0.007 0 0 0 0 2 0 0 1 0 4.909 333689 chr17 36666268 36666268 G A ARHGAP23 Nonsynonymous SNV R1179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 333690 chr17 39323953 39323953 T C rs190711711 KRTAP4-3 Nonsynonymous SNV S158G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 333691 chr17 39623313 39623313 C T rs565998951 KRT32 Nonsynonymous SNV E89K 0 0 0.003 0 0 0 0 1 0 0 0 0 22 333692 chr17 40258005 40258005 G A rs76998797 DHX58 Nonsynonymous SNV R334C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333693 chr17 4088147 4088147 A C rs202027800 ANKFY1 Nonsynonymous SNV H597Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333694 chr17 46052512 46052512 G C rs370461002 CDK5RAP3 Nonsynonymous SNV G21R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.242 333695 chr17 48823917 48823917 G A LUC7L3 Nonsynonymous SNV R331Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 333696 chr17 49281150 49281150 A G rs768069029 MBTD1 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 333697 chr17 49371268 49371268 A G rs557946868 UTP18 Nonsynonymous SNV H503R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 333698 chr17 50939500 50939500 T G rs151250741 LINC02089 0 0 0.007 0 0 0 0 2 0 0 1 0 0.245 333699 chr17 57093117 57093117 G A rs147639509 TRIM37 Synonymous SNV P656P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.36 333700 chr17 62223731 62223731 G A rs569156377 SNORA50C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 333701 chr17 62496928 62496928 C T rs781872208 MIR3064 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 333702 chr17 635929 635929 G T TLCD3A Synonymous SNV G14G 0 0 0.003 0 0 0 0 1 0 0 0 0 1.337 333703 chr17 65722594 65722594 A G rs754659334 NOL11 Nonsynonymous SNV Y46C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 333704 chr17 7365486 7365486 T C rs145526769 ZBTB4 Nonsynonymous SNV S939G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 333705 chr17 7474788 7474788 A C rs1031039190 SENP3 Nonsynonymous SNV K571T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 333706 chr17 76831364 76831364 C A rs148941450 USP36 Nonsynonymous SNV S158I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 333707 chr17 76831365 76831365 T A rs142785001 USP36 Nonsynonymous SNV S158C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 333708 chr17 76831368 76831368 G A rs151065333 USP36 Nonsynonymous SNV R157C 0 0 0.003 0 0 0 0 1 0 0 0 0 27 333709 chr17 78942711 78942711 C T rs61142276 LOC400627 0 0 0.003 0 0 0 0 1 0 0 0 0 1.254 333710 chr17 7906439 7906439 C T rs557108466 GUCY2D Nonsynonymous SNV S25F 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.39 333711 chr17 96910 96910 C T rs376959240 RPH3AL Nonsynonymous SNV R173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 333712 chr18 19098003 19098003 G C rs151071927 GREB1L Nonsynonymous SNV E1760D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.16 333713 chr18 21530071 21530071 A G rs112073265 LAMA3 Nonsynonymous SNV H1532R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 333714 chr18 30350223 30350223 G C KLHL14 Nonsynonymous SNV P111R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 333715 chr18 34205706 34205706 G T FHOD3 Nonsynonymous SNV R397L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 333716 chr18 52265166 52265166 G A rs112808305 DYNAP Synonymous SNV S89S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.414 333717 chr18 56985630 56985630 G T CPLX4 Nonsynonymous SNV S22Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 333718 chr18 65180604 65180604 G A DSEL Synonymous SNV N414N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.023 333719 chr19 10676636 10676636 C T rs376117133 KRI1 Nonsynonymous SNV A14T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.266 333720 chr19 16146511 16146511 C T rs145656978 LINC00905 0 0 0.007 0 0 0 0 2 0 0 0 0 6.698 333721 chr19 17679366 17679366 C T rs142308296 COLGALT1 Nonsynonymous SNV R225C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333722 chr19 17838754 17838754 G A MAP1S Nonsynonymous SNV R828Q 0 0 0.003 0 0 0 0 1 0 0 0 0 9.572 333723 chr19 2250675 2250675 C T rs777003373 AMH Nonsynonymous SNV R194C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 333724 chr19 31039813 31039813 G C rs140355821 ZNF536 Nonsynonymous SNV W1096S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 333725 chr19 325650 325650 G A rs375512079 MIER2 Nonsynonymous SNV R178W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 333726 chr19 34291422 34291422 C T rs149613370 KCTD15 Synonymous SNV T21T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.44 333727 chr19 35260404 35260404 G A ZNF599 Synonymous SNV H25H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.157 333728 chr19 36674399 36674399 G A rs755769606 ZNF565 Nonsynonymous SNV R92C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 333729 chr19 39915970 39915970 A G PLEKHG2 Nonsynonymous SNV Q1222R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.093 333730 chr19 44469432 44469432 A T rs897807418 ZNF221 Stop gain K86X 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 333731 chr19 45314576 45314576 C T rs370998652 BCAM Synonymous SNV H59H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.844 333732 chr19 45801479 45801479 C G MARK4 Nonsynonymous SNV I652M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 333733 chr19 47998827 47998827 T C rs777333925 NAPA Nonsynonymous SNV I108V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.19 333734 chr19 54695690 54695690 C T rs772713914 TSEN34 Nonsynonymous SNV A121V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 333735 chr19 58864822 58864822 G A rs763421361 A1BG-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.617 333736 chr19 9087777 9087777 T C rs376665600 MUC16 Synonymous SNV T1346T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 333737 chr19 971915 971915 C T ARID3A Synonymous SNV T544T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.839 333738 chr1 109811286 109811286 C T rs199698275 CELSR2 Synonymous SNV T2134T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.97 333739 chr1 1266857 1266857 C T rs771919931 TAS1R3 Synonymous SNV G44G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 333740 chr1 152595523 152595523 C T rs144024740 LCE3A Synonymous SNV K19K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.632 333741 chr1 152671574 152671574 G A rs139243501 LCE2A Nonsynonymous SNV G66D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 333742 chr1 169582867 169582867 G A SELP Synonymous SNV T182T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 333743 chr1 186275730 186275730 T C rs147788980 PRG4 Synonymous SNV N159N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.043 333744 chr1 186863307 186863307 G T rs772127204 PLA2G4A Synonymous SNV V114V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.353 333745 chr1 19477146 19477146 T C UBR4 Nonsynonymous SNV N2452S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.928 333746 chr1 246829096 246829096 C T rs755884853 CNST Synonymous SNV F689F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 333747 chr1 25549864 25549864 C T rs751015251 SYF2 Nonsynonymous SNV D167N 0 0 0.003 0 0 0 0 1 0 0 0 0 30 333748 chr1 26898372 26898372 C T rs552205045 RPS6KA1 Synonymous SNV C604C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.31 333749 chr1 27428233 27428233 G A rs756321872 SLC9A1 Nonsynonymous SNV R674W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 333750 chr1 28209397 28209397 G T THEMIS2 Nonsynonymous SNV G521V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.8 333751 chr1 47882231 47882231 A C FOXE3 Nonsynonymous SNV M82L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 333752 chr1 53480564 53480564 C T rs754679740 SCP2 Nonsynonymous SNV L338F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333753 chr1 64643510 64643510 G T rs774750393 ROR1 Nonsynonymous SNV A596S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.39 333754 chr1 74935629 74935629 G A LRRC53 Nonsynonymous SNV A1226V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.61 333755 chr1 87101779 87101779 G A rs78553504 CLCA3P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 333756 chr1 879318 879318 G A rs777407018 SAMD11 Nonsynonymous SNV V611M 0 0 0.003 0 0 0 0 1 0 0 0 0 2.169 333757 chr1 9415996 9415996 G A SPSB1 Nonsynonymous SNV D16N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 333758 chr1 94574203 94574203 A C rs745550261 ABCA4 Synonymous SNV R124R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 333759 chr20 17600980 17600980 T C RRBP1 Synonymous SNV V1181V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.783 333760 chr20 20493221 20493221 G A rs1017215691 RALGAPA2 Stop gain R1598X 0 0 0.003 0 0 0 0 1 0 0 0 0 46 333761 chr20 25273052 25273052 C T rs147406694 PYGB Synonymous SNV A660A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.67 333762 chr20 30918121 30918121 A C rs769489901 KIF3B Synonymous SNV R716R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 333763 chr20 32199042 32199042 C G rs760400972 CBFA2T2 Synonymous SNV L107L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.93 333764 chr20 34220234 34220234 G A rs201171766 CPNE1 Nonsynonymous SNV T128M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 333765 chr20 42165072 42165072 G A rs143376857 L3MBTL1 Nonsynonymous SNV R626Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 333766 chr20 44669207 44669207 A G rs753714930 SLC12A5 Nonsynonymous SNV I293V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 333767 chr20 45801378 45801378 G A EYA2 Nonsynonymous SNV G354D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 333768 chr20 52198202 52198202 G A ZNF217 Synonymous SNV H388H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.236 333769 chr20 5904300 5904300 A G rs140131066 CHGB Nonsynonymous SNV K504E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.04 333770 chr20 60794861 60794861 T G HRH3 Nonsynonymous SNV M56L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 333771 chr20 60886099 60886101 GAG - rs759410977 LAMA5 L3380del 0 0 0.003 0 0 0 0 1 0 0 0 0 333772 chr20 62196842 62196842 C T HELZ2 Synonymous SNV E542E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.942 333773 chr21 17222190 17222190 A C USP25 Nonsynonymous SNV K811T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.73 333774 chr21 19651368 19651368 G C rs777567484 TMPRSS15 Nonsynonymous SNV Q893E 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 333775 chr21 35791911 35791911 G T SMIM34A Nonsynonymous SNV H9N 0 0 0.003 0 0 0 0 1 0 0 0 0 6.378 333776 chr21 43281779 43281779 C T rs573114210 PRDM15 Nonsynonymous SNV G262R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.429 333777 chr21 43529782 43529782 C A rs372915114 UMODL1 Nonsynonymous SNV P544T 0 0 0.003 0 0 0 0 1 0 0 0 0 22 333778 chr21 46309311 46309311 C T rs921337956 ITGB2 Nonsynonymous SNV R586Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 6.577 333779 chr21 46424569 46424569 C T rs7277744 PICSAR 0 0 0.007 0 0 0 0 2 0 0 1 0 4.793 333780 chr21 47805872 47805872 C T rs780126629 PCNT Synonymous SNV A1028A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 333781 chr22 21153461 21153461 G A PI4KA Stop gain Q620X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 333782 chr22 21989452 21989452 G A rs9609909 CCDC116 Nonsynonymous SNV R367H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 333783 chr22 26423030 26423030 A G rs368893983 MYO18B Nonsynonymous SNV K2365E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 333784 chr22 26902306 26902306 G T rs767388060 TFIP11 Synonymous SNV G130G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.587 333785 chr22 31496911 31496911 A C SMTN Nonsynonymous SNV M938L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 333786 chr22 41657553 41657553 C T rs376365675 RANGAP1 Nonsynonymous SNV R171Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333787 chr22 45243864 45243864 G A rs375076440 ARHGAP8, PRR5-ARHGAP8 Nonsynonymous SNV E228K 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333788 chr22 50656430 50656430 G A rs201721812 TUBGCP6 Nonsynonymous SNV P1762L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.6 333789 chr2 114501335 114501335 G A SLC35F5 Nonsynonymous SNV L167F 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 333790 chr2 1481294 1481294 C A rs774820583 TPO Nonsynonymous SNV A419E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.21 333791 chr2 169787328 169787328 T C rs11568359 ABCB11 Synonymous SNV T1086T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 3.694 333792 chr2 171570585 171570585 G T LINC01124 0 0 0.003 0 0 0 0 1 0 0 0 0 3.696 333793 chr2 172644405 172644405 C G rs753205346 SLC25A12 Synonymous SNV L546L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 333794 chr2 176987959 176987959 G T rs191379716 HOXD9 Nonsynonymous SNV G155W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 333795 chr2 183051288 183051288 G A PDE1A Nonsynonymous SNV T394I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333796 chr2 21234752 21234752 C T APOB Nonsynonymous SNV S1663N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.59 333797 chr2 213872726 213872726 C T rs150809952 IKZF2 Synonymous SNV Q238Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.956 333798 chr2 213886767 213886767 T C rs755510162 IKZF2 Nonsynonymous SNV Y221C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 333799 chr2 215852378 215852378 T C ABCA12 Synonymous SNV P1005P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.826 333800 chr2 227660462 227660462 C T rs143760685 IRS1 Nonsynonymous SNV R998H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 333801 chr2 233398723 233398723 G A CHRND Nonsynonymous SNV R183K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 333802 chr2 234237221 234237221 G A SAG Nonsynonymous SNV D204N 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 333803 chr2 242186254 242186254 A C rs770193034 HDLBP Nonsynonymous SNV N588K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.325 333804 chr2 242683155 242683155 C T rs142940547 D2HGDH Synonymous SNV N69N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.12 333805 chr2 27305738 27305738 G A rs745775728 EMILIN1 Synonymous SNV G433G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 333806 chr2 27372132 27372132 C T rs185034250 TCF23 Nonsynonymous SNV P44L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.468 333807 chr2 45801791 45801791 C G rs149307402 SRBD1 Nonsynonymous SNV D382H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 333808 chr2 47314198 47314198 C A rs184422124 STPG4 Nonsynonymous SNV M232I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 333809 chr2 74654347 74654347 G A rs776132648 RTKN Nonsynonymous SNV R437W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 333810 chr2 85779634 85779634 G A rs747368669 GGCX Synonymous SNV A391A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.43 333811 chr2 88125225 88125225 C T rs768764544 RGPD2 Synonymous SNV G8G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 333812 chr3 122354781 122354783 TCT - rs372439793 PARP15 F322del 0 0 0.003 0 0 0 0 1 0 0 0 0 333813 chr3 1444136 1444136 C T rs144353179 CNTN6 Synonymous SNV S880S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.56 333814 chr3 150690336 150690336 G C rs770667302 CLRN1 Nonsynonymous SNV L54V 0 0 0.003 0 0 0 0 1 0 0 0 0 26 333815 chr3 15602406 15602406 T C rs756428398 HACL1 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 333816 chr3 164714524 164714524 A G rs754961413 SI 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 333817 chr3 164905943 164905943 A G rs111817682 SLITRK3 Synonymous SNV P892P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.034 333818 chr3 167277914 167277914 T C rs758842288 WDR49 Nonsynonymous SNV T197A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 333819 chr3 179104296 179104296 C T MFN1 Synonymous SNV L631L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.37 333820 chr3 180365007 180365007 G A rs368870111 CCDC39 Nonsynonymous SNV R463W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.6 333821 chr3 182937663 182937663 T G MCF2L2 Nonsynonymous SNV E784A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 333822 chr3 183535825 183535825 G A rs137891664 MAP6D1 Nonsynonymous SNV T159I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 333823 chr3 186272156 186272156 C T rs61732808 TBCCD1 Synonymous SNV G381G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.9 333824 chr3 196865182 196865182 T C DLG1 Nonsynonymous SNV E182G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 333825 chr3 197428721 197428721 G A rs774300203 RUBCN Synonymous SNV H135H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.467 333826 chr3 32737291 32737291 G A CNOT10 Nonsynonymous SNV M58I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333827 chr3 38770146 38770146 A G rs768541787 SCN10A Nonsynonymous SNV F745L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 333828 chr3 47455379 47455379 C T SCAP Nonsynonymous SNV V1013M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333829 chr3 49154948 49154948 T A rs113262645 USP19 Nonsynonymous SNV K176N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 333830 chr3 49689884 49689884 G A rs111860031 BSN Synonymous SNV E965E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.662 333831 chr3 50324164 50324164 G A rs151106412 LSMEM2 Nonsynonymous SNV V77I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.059 333832 chr3 52097459 52097459 G A rs755314431 LINC00696 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 333833 chr3 52097460 52097460 A C rs779556379 LINC00696 0 0 0.003 0 0 0 0 1 0 0 0 0 0.344 333834 chr3 56716865 56716865 C G rs541415592 TASOR Nonsynonymous SNV R57P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 333835 chr3 56716932 56716932 C T rs114958599 TASOR Nonsynonymous SNV E35K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 333836 chr4 100130040 100130040 C T rs577168397 ADH6 Nonsynonymous SNV G205S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 333837 chr4 100232765 100232765 C T rs953630325 ADH1B Nonsynonymous SNV V293I 0 0 0.003 0 0 0 0 1 0 0 0 0 1.39 333838 chr4 110834590 110834590 C T rs544759335 EGF Synonymous SNV L33L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.137 333839 chr4 1165719 1165719 G A rs200531741 SPON2 Synonymous SNV F47F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 333840 chr4 1222084 1222084 G C rs144062192 CTBP1 Synonymous SNV L81L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.218 333841 chr4 151357910 151357910 G T rs151286835 LRBA Nonsynonymous SNV T2296N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.3 333842 chr4 155157514 155157514 C T rs890702364 DCHS2 Nonsynonymous SNV D2764N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 333843 chr4 155529701 155529701 A G rs764126419 FGG Synonymous SNV N256N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.832 333844 chr4 56726684 56726684 G A rs375223350 EXOC1 Nonsynonymous SNV V78I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 333845 chr4 57181417 57181417 C G KIAA1211 Nonsynonymous SNV H583Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.96 333846 chr4 89671040 89671040 C T rs534502823 FAM13A Nonsynonymous SNV G300E 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333847 chr4 94411809 94411809 G A rs142012040 GRID2 Synonymous SNV T531T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.99 333848 chr5 1060507 1060507 C T rs150151929 SLC12A7 Synonymous SNV S933S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.578 333849 chr5 133902151 133902151 G A rs376981100 JADE2 Nonsynonymous SNV A439T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.49 333850 chr5 133902152 133902152 C A rs369973803 JADE2 Nonsynonymous SNV A439D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 333851 chr5 13737379 13737379 G A rs140948493 DNAH5 Nonsynonymous SNV R3813W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 34 333852 chr5 140745515 140745515 C A rs761134623 PCDHGA5 Nonsynonymous SNV P540T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333853 chr5 140866654 140866654 C G rs752261507 PCDHGC4 Synonymous SNV L638L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.299 333854 chr5 148747705 148747705 G T rs375680310 PCYOX1L Nonsynonymous SNV V308L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 333855 chr5 149756031 149756031 C T rs150196623 TCOF1 Nonsynonymous SNV P653S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 23.3 333856 chr5 150415175 150415175 G A rs11558277 TNIP1 Synonymous SNV L444L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.83 333857 chr5 153795387 153795387 C T rs200637196 GALNT10 Synonymous SNV P516P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 333858 chr5 167891939 167891939 G A rs145892564 WWC1 Nonsynonymous SNV R1047H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333859 chr5 168671740 168671740 C T rs368971636 SLIT3 Nonsynonymous SNV A104T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 333860 chr5 31538616 31538616 G A rs145324653 C5orf22 Synonymous SNV Q209Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.372 333861 chr5 32394554 32394554 G A rs1044551069 MIR579 0 0 0.003 0 0 0 0 1 0 0 0 0 8.68 333862 chr5 76259230 76259230 G C CRHBP Nonsynonymous SNV L252F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 333863 chr5 79950724 79950724 - CCGCAGCGGCCGCAGCGGCCGCAGCGC MSH3 A62_P63insAAAAAAPAA 0 0 0.003 0 0 0 0 1 0 0 0 0 333864 chr5 94027339 94027339 A G SLF1 Synonymous SNV P830P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.098 333865 chr6 107077572 107077572 C T rs373031772 QRSL1 Nonsynonymous SNV L6F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 333866 chr6 131908981 131908981 C T rs777412220 MED23 Synonymous SNV E1315E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 333867 chr6 152466686 152466686 T C rs377088951 SYNE1 Synonymous SNV V482V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.5 333868 chr6 15513518 15513518 C T JARID2 Synonymous SNV H933H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 333869 chr6 161162410 161162410 C A PLG Synonymous SNV R696R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 333870 chr6 33545374 33545374 G A rs531594065 BAK1 Nonsynonymous SNV S3L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 333871 chr6 35448112 35448112 G A TEAD3 Nonsynonymous SNV R103W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333872 chr6 36287268 36287268 G A rs752681697 BNIP5 Synonymous SNV R596R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.383 333873 chr6 42713109 42713109 G A rs138808785 TBCC Synonymous SNV L235L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.742 333874 chr6 49704121 49704121 T C rs755357254 CRISP3 Nonsynonymous SNV R81G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 333875 chr6 73904637 73904637 C T rs756255204 KCNQ5 Nonsynonymous SNV H657Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.51 333876 chr7 123593875 123593875 C A SPAM1 Nonsynonymous SNV T84N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 333877 chr7 150707756 150707756 G A rs553801426 NOS3 Synonymous SNV P919P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.29 333878 chr7 157041193 157041193 C G UBE3C Synonymous SNV L871L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.232 333879 chr7 23737848 23737848 G A rs567087303 FAM221A Synonymous SNV T167T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.14 333880 chr7 30634627 30634627 C T rs1057519166 GARS Synonymous SNV L30L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.23 333881 chr7 36447440 36447440 C G rs368041792 ANLN Nonsynonymous SNV P324R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 333882 chr7 38725421 38725421 G C rs749231427 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 333883 chr7 97846759 97846759 C G rs775175455 TECPR1 Synonymous SNV S1147S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 333884 chr8 101163602 101163602 G A POLR2K Nonsynonymous SNV V7I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 333885 chr8 128751016 128751016 G A rs4645961 MYC Nonsynonymous SNV V184I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.92 333886 chr8 142161745 142161745 C T DENND3 Nonsynonymous SNV R295W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 333887 chr8 59514061 59514061 T C rs747825453 NSMAF Nonsynonymous SNV M418V 0 0 0.003 0 0 0 0 1 0 0 0 0 23 333888 chr8 61693960 61693960 G A rs34979623 CHD7 Synonymous SNV T689T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 333889 chr9 114146833 114146833 G A rs548143396 ECPAS Nonsynonymous SNV A1217V 0 0 0.003 0 0 0 0 1 0 0 0 0 35 333890 chr9 130586622 130586622 G A rs142803546 ENG Synonymous SNV D365D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.117 333891 chr9 135804209 135804209 G C rs768175095 TSC1 Synonymous SNV P17P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.06 333892 chr9 135864477 135864477 G T rs146270572 GFI1B Synonymous SNV V180V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.428 333893 chr9 88761421 88761421 G C rs147379025 LOC101927623 0 0 0.003 0 0 0 0 1 0 0 0 0 0.011 333894 chr9 90499850 90499850 G C SPATA31E1 Nonsynonymous SNV E150Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333895 chr9 98268873 98268873 A G PTCH1 Synonymous SNV A70A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.36 333896 chrX 106845771 106845771 G A rs777647321 FRMPD3 Nonsynonymous SNV R1534H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 333897 chrX 149931153 149931153 G A MTMR1 Nonsynonymous SNV R556Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 333898 chrX 153175723 153175723 C T ARHGAP4 Synonymous SNV T686T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.75 333899 chrX 47478912 47478912 C T SYN1 Synonymous SNV G72G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 333900 chrX 71379776 71379776 C T rs371042494 FLJ44635 Nonsynonymous SNV R33C 0 0 0.003 0 0 0 0 1 0 0 0 0 4.81 333901 chrX 73071941 73071941 A - rs749825764 XIST 0 0 0.003 0 0 0 0 1 0 0 0 0 333902 chrX 75651188 75651188 C T MAGEE1 Synonymous SNV N955N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.058 333903 chrX 99658546 99658546 T G rs754791297 PCDH19 Nonsynonymous SNV E755A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.945 333904 chr10 101591826 101591826 C T rs72558199 ABCC2 Stop gain R1066X 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 40 333905 chr10 106118264 106118264 C A rs759795638 CFAP58 Nonsynonymous SNV R59S 0 0 0.003 0 0 0 0 1 0 0 0 0 34 333906 chr10 118893696 118893696 C T rs1041629813 VAX1 Synonymous SNV P276P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 333907 chr10 124189189 124189189 A G rs375458420 PLEKHA1 Nonsynonymous SNV N317S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 333908 chr10 134004260 134004260 C T DPYSL4 Nonsynonymous SNV L17F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 333909 chr10 134738356 134738356 G A rs914677857 CFAP46 Nonsynonymous SNV A367V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 333910 chr10 135272031 135272031 G A rs528851978 SCART1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.73 333911 chr10 27012959 27012959 C T rs539188739 PDSS1 Synonymous SNV L246L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 333912 chr10 50833662 50833662 C T rs868749 CHAT Nonsynonymous SNV P181L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 23.8 333913 chr10 53458651 53458662 CCAGGGCCAGGG - rs575649480 CSTF2T P217_G220del 0 0 0.003 0 0 0 0 1 0 0 0 0 333914 chr10 5777361 5777361 A C rs114628221 TASOR2 Synonymous SNV T433T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 333915 chr10 72360596 72360596 G A PRF1 Synonymous SNV A21A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.462 333916 chr10 73563074 73563074 C G rs368781470 CDH23 Nonsynonymous SNV P350R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 333917 chr10 73828028 73828028 C A SPOCK2 Nonsynonymous SNV S169I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 333918 chr11 1018284 1018284 G T rs772488110 MUC6 Nonsynonymous SNV T1506N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.57 333919 chr11 1019325 1019325 G A rs745956631 MUC6 Nonsynonymous SNV T1327I 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 333920 chr11 115085350 115085350 C T rs745677210 CADM1 Synonymous SNV S324S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.91 333921 chr11 116693398 116693398 T C rs145911376 APOA4 Synonymous SNV K51K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.028 333922 chr11 118919502 118919502 C T HYOU1 Nonsynonymous SNV E697K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 333923 chr11 124847427 124847427 A C rs370851788 CCDC15 Synonymous SNV G228G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 333924 chr11 130281412 130281412 G T ADAMTS8 Nonsynonymous SNV H550Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 333925 chr11 15198656 15198656 G T rs371335288 INSC 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 333926 chr11 15198665 15198665 G A rs775646423 INSC Synonymous SNV K137K 0 0 0.003 0 0 0 0 1 0 0 0 0 11.25 333927 chr11 18636425 18636425 C G rs199738421 SPTY2D1 Nonsynonymous SNV G466R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 333928 chr11 31484748 31484748 C G rs372148769 IMMP1L Nonsynonymous SNV A26P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333929 chr11 55735804 55735804 G A rs753075457 OR10AG1 Nonsynonymous SNV L46F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333930 chr11 55735805 55735805 A G rs756510411 OR10AG1 Synonymous SNV A45A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 333931 chr11 56310191 56310191 C T rs979783807 OR5M11 Synonymous SNV P181P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.057 333932 chr11 57077221 57077221 G A rs372175343 TNKS1BP1 Synonymous SNV P988P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.63 333933 chr11 57099877 57099877 C T rs142066470 SSRP1 Synonymous SNV S284S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.1 333934 chr11 57449922 57449922 C T rs150741412 ZDHHC5 Nonsynonymous SNV P45S 0 0 0.003 0 0 0 0 1 0 0 0 0 22 333935 chr11 65386470 65386470 G A rs200169288 PCNX3 Nonsynonymous SNV R546Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.464 333936 chr11 67412598 67412598 C T rs142720670 ACY3 Synonymous SNV Q184Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.11 333937 chr11 72469630 72469630 G A STARD10 Nonsynonymous SNV S135F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 333938 chr11 73063937 73063937 C T rs755716149 ARHGEF17 Synonymous SNV D1111D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 333939 chr11 74873726 74873726 C T rs56837383 SLCO2B1 Nonsynonymous SNV P15S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 333940 chr11 763486 763486 G A rs140985565 TALDO1 Nonsynonymous SNV D202N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 333941 chr11 792389 792389 G A rs200830331 SLC25A22 Synonymous SNV S219S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 333942 chr12 100729625 100729627 CTT - rs749371638 SCYL2 L657del 0 0 0.003 0 0 0 0 1 0 0 0 0 333943 chr12 11420895 11420895 C T PRB3 Synonymous SNV P96P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.805 333944 chr12 119937966 119937966 C A rs141099915 CCDC60 Nonsynonymous SNV A214E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 333945 chr12 122248133 122248133 T C rs772622535 SETD1B Nonsynonymous SNV F428L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.91 333946 chr12 124289537 124289537 C A rs767874854 DNAH10 Stop gain Y861X 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 333947 chr12 31632836 31632836 C T rs759838534 DENND5B Synonymous SNV P197P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 333948 chr12 3409387 3409387 T A rs766333129 LOC100128253 0 0 0.003 0 0 0 0 1 0 0 0 0 12.49 333949 chr12 44238547 44238547 G A rs774970961 TMEM117 Synonymous SNV A31A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 333950 chr12 4705411 4705411 A C DYRK4 Nonsynonymous SNV N127H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 333951 chr12 48547161 48547161 A C ASB8 Nonsynonymous SNV L40R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 333952 chr12 54367475 54367475 C T HOXC11 Synonymous SNV A150A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.24 333953 chr12 56086750 56086750 T C rs771994045 ITGA7 Nonsynonymous SNV S460G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.15 333954 chr12 56222065 56222065 T G DNAJC14 Synonymous SNV P126P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.56 333955 chr12 71834019 71834019 C G rs775049810 LGR5 Synonymous SNV S53S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 333956 chr12 72148954 72148954 C A RAB21 Synonymous SNV G15G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.68 333957 chr12 7302205 7302205 C T rs529193577 CLSTN3 Nonsynonymous SNV R721W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 333958 chr12 94243875 94243875 C G CRADD Nonsynonymous SNV T143R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.23 333959 chr12 96437145 96437145 T A LTA4H Synonymous SNV P3P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.505 333960 chr13 100617841 100617841 T A rs201281552 ZIC5 Synonymous SNV P594P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.318 333961 chr13 103387948 103387948 T A CCDC168 Nonsynonymous SNV K5033N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 333962 chr13 110826863 110826863 C G rs536855906 COL4A1 Synonymous SNV G1112G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.732 333963 chr13 36909703 36909703 G T rs369491741 SPART Nonsynonymous SNV R89S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.204 333964 chr13 42871272 42871272 A G AKAP11 Nonsynonymous SNV K102R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 333965 chr13 43918681 43918681 G A rs141824564 ENOX1 Synonymous SNV L378L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.669 333966 chr13 84454279 84454279 T G SLITRK1 Nonsynonymous SNV E455A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 333967 chr13 92346035 92346035 A C rs756568127 GPC5 Nonsynonymous SNV H307P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 333968 chr14 22038815 22038815 G A rs761331655 OR10G3 Nonsynonymous SNV L21F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.055 333969 chr14 45716109 45716109 T C MIS18BP1 Synonymous SNV Q127Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.104 333970 chr14 57279997 57279997 G T OTX2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 333971 chr14 98100004 98100004 C T rs970283388 LINC02291 0 0 0.003 0 0 0 0 1 0 0 0 0 0.089 333972 chr15 102191972 102191972 T C rs199581400 TM2D3 Synonymous SNV Q32Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 333973 chr15 38773511 38773511 G T FAM98B Nonsynonymous SNV A250S 0 0 0.003 0 0 0 0 1 0 0 0 0 25 333974 chr15 40754245 40754245 A G rs149595914 BAHD1 Nonsynonymous SNV T522A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 333975 chr15 42166169 42166169 G C rs199569367 SPTBN5 Synonymous SNV A1588A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.168 333976 chr15 43585046 43585046 A T rs143806974 TGM7 Synonymous SNV S100S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 333977 chr15 75498892 75498892 C T rs765148849 C15orf39 Nonsynonymous SNV P168L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333978 chr15 77328211 77328211 G A rs201186216 PSTPIP1 Nonsynonymous SNV E333K 0 0 0.007 0 0 0 0 2 0 0 0 0 Likely benign 11.17 333979 chr15 99797889 99797889 G A rs769230230 HSP90B2P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.019 333980 chr16 1259375 1259375 G A rs772473191 CACNA1H Nonsynonymous SNV R1236H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.9 333981 chr16 15692729 15692729 G A rs776983879 MARF1 Nonsynonymous SNV R1656C 0 0 0.003 0 0 0 0 1 0 0 0 0 30 333982 chr16 1574906 1574906 C T rs148240226 IFT140 Nonsynonymous SNV R959Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 333983 chr16 17294451 17294451 G A rs139070566 XYLT1 Nonsynonymous SNV P325L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 333984 chr16 23366772 23366772 C T rs141889317 SCNN1B Synonymous SNV I246I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 333985 chr16 24366272 24366272 G A CACNG3 Synonymous SNV A138A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.62 333986 chr16 28990559 28990559 C T rs749187043 SPNS1 Synonymous SNV A154A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 333987 chr16 3086234 3086234 C T rs773469259 LOC100128770 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 333988 chr16 3592732 3592732 C T rs374405680 NLRC3 Nonsynonymous SNV A995T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 333989 chr16 58426574 58426574 C A rs779885077 GINS3 Nonsynonymous SNV D23E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 333990 chr16 64984862 64984862 A G rs201534694 CDH11 Nonsynonymous SNV Y442H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 333991 chr16 67328871 67328874 CTTA - rs770236578 KCTD19 0 0 0.003 0 0 0 0 1 0 0 0 0 333992 chr16 68732169 68732169 G A rs34813787 CDH3 Nonsynonymous SNV G731S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.7 333993 chr16 71779145 71779145 C T AP1G1 Nonsynonymous SNV G634E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 333994 chr16 84529519 84529519 T C rs140610075 MEAK7 Nonsynonymous SNV N52D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.119 333995 chr16 84693452 84693452 C T rs755384030 KLHL36 Synonymous SNV N408N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.2 333996 chr17 1198893 1198893 G A TRARG1 Nonsynonymous SNV V166M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 333997 chr17 17682240 17682240 G A rs566237779 SMCR5 0 0 0.003 0 0 0 0 1 0 0 0 0 2.136 333998 chr17 18154647 18154647 C T rs746293083 FLII Nonsynonymous SNV V455M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.7 333999 chr17 18259316 18259316 - A rs748444788 SHMT1 0 0 0.003 0 0 0 0 1 0 0 0 0 334000 chr17 26553772 26553772 C T rs559425517 PYY2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.602 334001 chr17 30986343 30986343 G A rs139887773 MYO1D Nonsynonymous SNV T712I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334002 chr17 40271606 40271606 C T rs782601740 KAT2A Nonsynonymous SNV R277Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 334003 chr17 41245932 41245932 G A rs80357374 BRCA1 Nonsynonymous SNV T492M 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.011 334004 chr17 48827902 48827902 C T rs766512641 LUC7L3 Synonymous SNV S393S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 334005 chr17 56348068 56348068 G A rs113203253 MPO Synonymous SNV N729N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.428 334006 chr17 58308986 58308986 C T rs79851920 SCARNA20 0 0 0.003 0 0 0 0 1 0 0 0 0 9.086 334007 chr17 58308996 58308996 G A rs7218312 SCARNA20 0 0 0.003 0 0 0 0 1 0 0 0 0 9.627 334008 chr17 61574311 61574311 T C rs140941300 ACE Nonsynonymous SNV L604P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334009 chr17 68171656 68171656 T C KCNJ2 Nonsynonymous SNV F159S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 334010 chr17 6902071 6902071 G A rs199758224 ALOX12 Nonsynonymous SNV A153T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 334011 chr17 7315507 7315507 G A NLGN2 Synonymous SNV T163T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.413 334012 chr17 73826167 73826167 G A rs118049905 UNC13D Nonsynonymous SNV R966W 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 334013 chr17 74902198 74902198 G A rs146302406 MGAT5B Synonymous SNV A329A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 334014 chr17 76499102 76499102 G A rs751876338 DNAH17-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.551 334015 chr17 76533473 76533473 C T rs376993626 DNAH17 Nonsynonymous SNV G923S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 334016 chr17 78388893 78388893 G T RNF213-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.776 334017 chr17 79095712 79095712 C T rs767788616 AATK Nonsynonymous SNV R572H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.376 334018 chr17 80194678 80194678 G A rs151081282 SLC16A3 Synonymous SNV S99S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 334019 chr17 80790054 80790054 T C rs151106442 ZNF750 Nonsynonymous SNV N93D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.029 334020 chr17 80888472 80888472 C T rs35845235 TBCD Synonymous SNV F1022F 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.47 334021 chr18 13645558 13645558 G A rs145573407 LDLRAD4 Nonsynonymous SNV A220T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.044 334022 chr18 21461972 21461972 G A rs764402291 LAMA3 Nonsynonymous SNV G120R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 334023 chr18 2920414 2920414 G A rs149862905 LPIN2 Synonymous SNV L856L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.86 334024 chr18 56718902 56718902 G A OACYLP 0 0 0.003 0 0 0 0 1 0 0 0 0 7.889 334025 chr18 6729899 6729899 T C ARHGAP28 Nonsynonymous SNV S27P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.09 334026 chr19 10394431 10394431 C A rs775112898 ICAM1 Nonsynonymous SNV N202K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 334027 chr19 14876555 14876555 G T rs777410904 ADGRE2 Synonymous SNV T232T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.377 334028 chr19 15131437 15131437 G A rs201745447 CCDC105 Synonymous SNV T280T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.87 334029 chr19 17000466 17000466 G A rs371000821 F2RL3 Synonymous SNV P64P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.96 334030 chr19 1754550 1754550 G A rs868384237 ONECUT3 Nonsynonymous SNV G297R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 334031 chr19 33698345 33698345 C T rs767760172 LRP3 Nonsynonymous SNV P726L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.23 334032 chr19 44681310 44681310 C T ZNF226 Nonsynonymous SNV A632V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 334033 chr19 47549248 47549248 C T rs748505007 TMEM160 Synonymous SNV E188E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 334034 chr19 49138950 49138950 C A rs1001741857 DBP Nonsynonymous SNV R146L 0 0 0.003 0 0 0 0 1 0 0 0 0 22 334035 chr19 49238494 49238494 G T rs779241127 RASIP1 Nonsynonymous SNV R380S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 334036 chr19 49863308 49863308 C G TEAD2 Nonsynonymous SNV A9P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.42 334037 chr19 50102699 50102699 C T rs766128999 PRR12 Synonymous SNV A1283A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 334038 chr19 50910588 50910588 T G rs748444470 POLD1 Nonsynonymous SNV M564R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.423 334039 chr19 55869750 55869750 G A rs368505442 FAM71E2 Nonsynonymous SNV P829L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 334040 chr19 56249721 56249721 - A rs568593996 NLRP9 Frameshift insertion S7Ffs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 334041 chr19 56473557 56473557 C T rs369510323 NLRP8 Nonsynonymous SNV L723F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.213 334042 chr19 6890523 6890523 C T rs148503215 ADGRE1 Synonymous SNV H21H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.605 334043 chr19 9059210 9059210 C T rs763175884 MUC16 Nonsynonymous SNV M9412I 0 0 0.003 0 0 0 0 1 0 0 0 0 5.077 334044 chr19 9088246 9088246 C T rs777979446 MUC16 Stop gain W1190X 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334045 chr1 100376305 100376305 A T rs780617757 AGL Synonymous SNV G1246G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.955 334046 chr1 10521646 10521646 C A DFFA Nonsynonymous SNV Q299H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334047 chr1 109479919 109479919 - T CLCC1 Frameshift insertion R203Kfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 334048 chr1 11087567 11087567 A C rs781698149 MASP2 Nonsynonymous SNV L479R 0 0 0.003 0 0 0 0 1 0 0 0 0 26 334049 chr1 11561583 11561583 C T rs377565787 DISP3 Synonymous SNV A178A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.041 334050 chr1 150040821 150040821 G A rs587709637 VPS45 Synonymous SNV K40K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 334051 chr1 151747253 151747253 C T rs774227191 TDRKH Synonymous SNV T522T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 334052 chr1 156708444 156708444 T - MRPL24 H18Lfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 334053 chr1 167798636 167798636 G A rs147104989 ADCY10 Nonsynonymous SNV R1054W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 334054 chr1 175087761 175087761 G C TNN Nonsynonymous SNV W817C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 334055 chr1 176132018 176132020 TTC - COP1 K246del 0 0 0.003 0 0 0 0 1 0 0 0 0 334056 chr1 177901907 177901907 C A CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV G612V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 334057 chr1 190234137 190234137 C A rs375567534 BRINP3 Nonsynonymous SNV R57L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 334058 chr1 201180352 201180352 G T IGFN1 Nonsynonymous SNV G2111W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 334059 chr1 203316951 203316951 C G rs758862040 FMOD Nonsynonymous SNV V150L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.873 334060 chr1 207110953 207110953 C T rs149018674 PIGR Nonsynonymous SNV D178N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 334061 chr1 207646269 207646269 C T rs758797015 CR2 Nonsynonymous SNV R575C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334062 chr1 212220515 212220515 C T rs751826465 DTL Synonymous SNV A58A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.94 334063 chr1 215408473 215408473 T A KCNK2 Synonymous SNV I418I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.762 334064 chr1 23710900 23710900 C T TCEA3 Nonsynonymous SNV R326H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334065 chr1 2434351 2434351 - A PLCH2 0 0 0.003 0 0 0 0 1 0 0 0 0 334066 chr1 247464154 247464154 G A ZNF496 Synonymous SNV H477H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.561 334067 chr1 248004807 248004807 C T rs148646914 OR11L1 Nonsynonymous SNV R131H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.189 334068 chr1 248685710 248685710 A T rs964299406 OR2G6 Nonsynonymous SNV I255F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 334069 chr1 27877824 27877824 G A rs751818701 AHDC1 Nonsynonymous SNV S268L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334070 chr1 32052317 32052317 A C rs202032226 TINAGL1 Synonymous SNV G377G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.39 334071 chr1 32936449 32936449 C A rs759005393 ZBTB8B Nonsynonymous SNV A75D 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 334072 chr1 33233493 33233493 G A rs374041047 KIAA1522 Nonsynonymous SNV R55Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 334073 chr1 43719800 43719800 G A rs1020925682 CFAP57 Nonsynonymous SNV A1264T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.589 334074 chr1 52769557 52769557 G A rs139791435 ZFYVE9 Nonsynonymous SNV R1074Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334075 chr1 53559144 53559144 C T rs774767055 SLC1A7 Synonymous SNV A190A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.003 334076 chr1 55457539 55457539 C T rs367741541 TMEM61 Synonymous SNV Y132Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.84 334077 chr1 62190717 62190717 C G rs200877661 TM2D1 Nonsynonymous SNV V26L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 334078 chr1 78392445 78392445 C A rs201171783 NEXN Synonymous SNV P180P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 18.73 334079 chr1 7869002 7869002 G A rs554885490 PER3 Nonsynonymous SNV D396N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 334080 chr20 1459031 1459031 A G SIRPB2 Nonsynonymous SNV F225L 0 0 0.003 0 0 0 0 1 0 0 0 0 26 334081 chr20 25060122 25060122 A G rs777668246 VSX1 Synonymous SNV N151N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.18 334082 chr20 35491313 35491313 C T SOGA1 Synonymous SNV E145E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 334083 chr20 50329519 50329519 C T rs759279499 ATP9A Nonsynonymous SNV R141Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 334084 chr20 52645152 52645152 T C rs748770815 BCAS1 Nonsynonymous SNV R168G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334085 chr20 60894849 60894849 G A rs199975267 LAMA5 Synonymous SNV A2254A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 5.333 334086 chr20 62194375 62194375 G A rs758469089 HELZ2 Nonsynonymous SNV R1365W 0 0 0.003 0 0 0 0 1 0 0 0 0 16.1 334087 chr21 28210799 28210799 T A rs145513522 ADAMTS1 Synonymous SNV G721G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.82 334088 chr21 36164771 36164771 - ATGCCG rs750495319 RUNX1 G340_M341insIG 0 0 0.003 0 0 0 0 1 0 0 0 0 334089 chr21 43230567 43230567 C T rs752226481 PRDM15 Synonymous SNV G902G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.18 334090 chr21 43547821 43547821 C T rs376777980 UMODL1 Synonymous SNV N1246N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 334091 chr21 45712254 45712254 C T rs201551372 AIRE Synonymous SNV P355P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.743 334092 chr21 45736395 45736395 C T rs139920536 PFKL Synonymous SNV F308F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.971 334093 chr21 45978486 45978487 GC - rs782698234 KRTAP10-3 A38Pfs*25 0 0 0.003 0 0 0 0 1 0 0 0 0 334094 chr21 45978491 45978503 GCAGCTGGTGGCG - rs781839254 KRTAP10-3 T34Pfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 334095 chr21 47545899 47545899 C T rs150098077 COL6A2 Nonsynonymous SNV R724C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 30 334096 chr21 47570432 47570432 C T rs147140166 FTCD Nonsynonymous SNV R215H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 334097 chr22 20101059 20101059 A G rs376938273 TRMT2A Nonsynonymous SNV V461A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.417 334098 chr22 21388510 21388510 A T rs183799425 MIR649 0 0 0.003 0 0 0 0 1 0 0 0 0 0.4 334099 chr22 30221667 30221667 C T rs535065277 ASCC2 Nonsynonymous SNV V62I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 334100 chr22 41968133 41968133 G C rs762132125 CSDC2 Nonsynonymous SNV R55T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 334101 chr2 108627204 108627204 C T rs780371731 SLC5A7 Nonsynonymous SNV L439F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.99 334102 chr2 149847691 149847691 C G rs369332084 KIF5C Synonymous SNV A628A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 334103 chr2 152321952 152321952 T C rs184606412 RIF1 Nonsynonymous SNV I1973T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.326 334104 chr2 152419157 152419157 G A rs374606967 NEB Nonsynonymous SNV R4586C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.7 334105 chr2 152670826 152670826 T C rs760103873 ARL5A Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 334106 chr2 165551817 165551817 A T rs753446883 COBLL1 Nonsynonymous SNV N695K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 334107 chr2 165947198 165947198 G A SCN3A Nonsynonymous SNV P1773L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 334108 chr2 177016673 177016673 G C rs942388594 HOXD4 Synonymous SNV P104P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.51 334109 chr2 179397018 179397018 C T rs750453650 TTN Nonsynonymous SNV R25710H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 334110 chr2 179440757 179440757 T C rs367914610 TTN Nonsynonymous SNV I14303V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 12.33 334111 chr2 179501248 179501248 C A rs540133480 TTN Nonsynonymous SNV A4671S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 334112 chr2 179979944 179979944 C A rs929369359 SESTD1 Nonsynonymous SNV V563F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 334113 chr2 190428592 190428592 G C rs762113624 SLC40A1 Nonsynonymous SNV L374V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.642 334114 chr2 200820687 200820687 C A rs751845535 MAIP1 Synonymous SNV R56R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 334115 chr2 206581052 206581052 C A rs772877594 NRP2 Synonymous SNV A129A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 21.1 334116 chr2 220161954 220161954 C G PTPRN 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 334117 chr2 224824308 224824308 A G rs148801056 MRPL44 Synonymous SNV L79L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.421 334118 chr2 228886513 228886513 T A SPHKAP Nonsynonymous SNV N204I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 334119 chr2 230643254 230643254 C T rs745378471 TRIP12 Synonymous SNV A1408A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.31 334120 chr2 241905379 241905379 C G rs571219162 CROCC2 Synonymous SNV A1310A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.102 334121 chr2 24260756 24260756 G C rs773834149 WDCP Nonsynonymous SNV L537V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.433 334122 chr2 27373201 27373201 C T rs750168811 TCF23 Synonymous SNV L145L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 334123 chr2 3604459 3604459 G C rs149299251 RNASEH1 Nonsynonymous SNV A29G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.34 334124 chr2 37543552 37543552 C T rs757011664 PRKD3 Nonsynonymous SNV R39Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 334125 chr2 46605854 46605854 T C rs751389052 EPAS1 Nonsynonymous SNV I501T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 334126 chr2 48808356 48808356 - T rs756888788 STON1, STON1-GTF2A1L Frameshift insertion T197Hfs*3 0 0 0.003 0 0 0 0 1 0 0 0 0 334127 chr2 68873219 68873219 G A rs150860263 PROKR1 Nonsynonymous SNV R89H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 334128 chr2 74652723 74652723 C T rs145348729 WDR54 Synonymous SNV V315V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.263 334129 chr2 74776633 74776633 C T rs1040647718 LOXL3 Synonymous SNV T185T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.8 334130 chr2 79365281 79365281 T A rs187324793 REG1CP 0 0 0.003 0 0 0 0 1 0 0 0 0 11.51 334131 chr3 110840969 110840969 T C rs763233600 NECTIN3 Synonymous SNV Y267Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.853 334132 chr3 128979581 128979581 C T rs748140089 COPG1 Synonymous SNV S353S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.23 334133 chr3 139077887 139077887 C T rs758715374 COPB2 Nonsynonymous SNV E813K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 334134 chr3 142133063 142133063 C G XRN1 Nonsynonymous SNV E503Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 334135 chr3 142176503 142176503 C T rs763127779 ATR Nonsynonymous SNV R2469Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334136 chr3 142231143 142231143 C G ATR Nonsynonymous SNV C1540S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 334137 chr3 150690532 150690532 A G CLRN1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.79 334138 chr3 157099107 157099107 G A rs780936966 VEPH1 Nonsynonymous SNV S322L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 334139 chr3 167728166 167728166 C A rs192864785 GOLIM4 Nonsynonymous SNV R633L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.96 334140 chr3 178137060 178137060 C T rs575713968 LINC01014 0 0 0.003 0 0 0 0 1 0 0 0 0 6.445 334141 chr3 184104383 184104383 C T rs199810958 CHRD Nonsynonymous SNV P679L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.405 334142 chr3 184290407 184290407 G A rs376603901 EPHB3 Nonsynonymous SNV R100Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.72 334143 chr3 184556514 184556514 G A VPS8 Nonsynonymous SNV A154T 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334144 chr3 187386988 187386988 A G rs778631082 SST Synonymous SNV D72D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.407 334145 chr3 38271205 38271205 C G rs773609974 OXSR1 Nonsynonymous SNV H288Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 334146 chr3 424373 424373 C G rs199842662 CHL1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.504 334147 chr3 49691978 49691978 T G rs773249548 BSN Synonymous SNV T1663T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.289 334148 chr3 53157810 53157810 A G rs1031038370 RFT1 Nonsynonymous SNV F66L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 334149 chr3 69265414 69265414 C A rs766388652 FRMD4B Nonsynonymous SNV K292N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 334150 chr3 97686118 97686118 T C rs777509209 RIOX2 Nonsynonymous SNV N107S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.061 334151 chr4 13548635 13548635 C A LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 10.39 334152 chr4 144620918 144620918 G A rs138251026 FREM3 Nonsynonymous SNV P304L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.4 334153 chr4 148265827 148265827 G A rs780803464 MIR548G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.489 334154 chr4 164394285 164394285 T G rs748220380 TKTL2 Nonsynonymous SNV D201A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.711 334155 chr4 177649034 177649034 G T VEGFC Synonymous SNV T150T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.428 334156 chr4 1818467 1818467 C T rs777651583 LETM1 Nonsynonymous SNV G640S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.78 334157 chr4 3318891 3318891 G A rs145505565 RGS12 Nonsynonymous SNV A332T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 334158 chr4 48073621 48073621 C T TXK Synonymous SNV V476V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 334159 chr4 6234769 6234769 C T rs78030062 LINC02495 0 0 0.003 0 0 0 0 1 0 0 0 0 7.562 334160 chr4 6234816 6234816 C T rs75150230 LINC02495 0 0 0.003 0 0 0 0 1 0 0 0 0 2.602 334161 chr4 7725525 7725525 C T rs200305230 SORCS2 Synonymous SNV Y842Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.495 334162 chr4 84391416 84391416 A G rs780316562 ABRAXAS1 Nonsynonymous SNV I30T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 334163 chr4 8588786 8588786 C T rs200432305 GPR78 Nonsynonymous SNV A263V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.192 334164 chr4 87728945 87728945 C T PTPN13 Synonymous SNV I2135I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.336 334165 chr4 88537151 88537159 GATAGCAGT - DSPP D1119_S1121del 0 0 0.007 0 0 0 0 2 0 0 1 0 334166 chr4 88537172 88537180 AGCAGCAAT - DSPP N1122_S1124del 0 0 0.007 0 0 0 0 2 0 0 1 0 334167 chr4 88537198 88537198 C A rs200796238 DSPP Nonsynonymous SNV D1128E 0 0 0.007 0 0 0 0 2 0 0 1 0 0.577 334168 chr4 88537213 88537213 T C rs151217478 DSPP Synonymous SNV S1133S 0 0 0.007 0 0 0 0 2 0 0 1 0 0.038 334169 chr4 88537217 88537261 AGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA - rs766646077 DSPP N1140_S1154del 0 0 0.007 0 0 0 0 2 0 0 1 0 334170 chr4 960807 960807 G T DGKQ Nonsynonymous SNV P419Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.356 334171 chr5 132038643 132038643 A G KIF3A Synonymous SNV S500S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.892 334172 chr5 137144265 137144265 G A rs913186506 NPY6R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.275 334173 chr5 146889165 146889165 G A rs190349455 DPYSL3 Nonsynonymous SNV P86L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 334174 chr5 169310000 169310000 A G rs201919063 INSYN2B Synonymous SNV C301C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334175 chr5 175958563 175958563 A G RNF44 Synonymous SNV P122P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.446 334176 chr5 176072513 176072513 G A rs116717121 EIF4E1B Nonsynonymous SNV V204I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 334177 chr5 41061710 41061710 T C MROH2B Nonsynonymous SNV I193V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.38 334178 chr5 45645548 45645548 A G HCN1 Synonymous SNV T196T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.243 334179 chr5 89979478 89979478 G A rs200965928 ADGRV1 Nonsynonymous SNV A1914T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334180 chr5 93856038 93856038 A G KIAA0825 Synonymous SNV C295C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.376 334181 chr6 107391333 107391333 G A rs183083011 BEND3 Synonymous SNV V354V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.378 334182 chr6 110056364 110056364 A T FIG4 Nonsynonymous SNV D170V 0 0 0.003 0 0 0 0 1 0 0 0 0 30 334183 chr6 128150632 128150632 C T rs267600794 THEMIS Nonsynonymous SNV G233D 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 334184 chr6 135371727 135371727 C T rs35916433 HBS1L Synonymous SNV P34P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.84 334185 chr6 157100080 157100094 GGCGGCGGCGGCCGC - rs775733700 ARID1B A346_A350del 0 0 0.003 0 0 0 0 1 0 0 0 0 334186 chr6 161152795 161152795 G C PLG Nonsynonymous SNV G486A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 334187 chr6 167570419 167570419 G A rs148093951 GPR31 Stop gain R301X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334188 chr6 35587959 35587959 A T rs200045200 FKBP5 Nonsynonymous SNV S115T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.512 334189 chr6 42713475 42713475 C G rs201282727 TBCC Nonsynonymous SNV G113R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334190 chr6 43415467 43415467 G A rs750581964 ABCC10 Nonsynonymous SNV V1223M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334191 chr6 44222757 44222757 G T rs144120153 SLC35B2 Nonsynonymous SNV R196S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.61 334192 chr6 53516533 53516533 C T KLHL31 Nonsynonymous SNV E590K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334193 chr6 55935568 55935568 C A rs200999181 COL21A1 Stop gain G23X 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334194 chr6 97052658 97052658 A G rs749609612 FHL5 Synonymous SNV E64E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.904 334195 chr6 99365326 99365326 C T rs763612215 FBXL4 Nonsynonymous SNV S261N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.154 334196 chr7 100160266 100160268 GGC - rs756166918 AGFG2 G354del 0 0 0.003 0 0 0 0 1 0 0 0 0 334197 chr7 104748092 104748092 T C rs199561930 KMT2E Nonsynonymous SNV M1063T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 334198 chr7 109599770 109599770 A G rs147112208 EIF3IP1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.45 334199 chr7 116963029 116963029 G A WNT2 Synonymous SNV L5L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 334200 chr7 12270031 12270031 C T rs771468165 TMEM106B Nonsynonymous SNV P200L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334201 chr7 134893643 134893643 C T rs560414426 WDR91 Synonymous SNV P137P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 334202 chr7 141724891 141724891 C T rs377578091 MGAM Synonymous SNV C308C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 334203 chr7 142480024 142480024 C T rs760340053 PRSS3P2 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 334204 chr7 148801980 148801980 T - ZNF425 K328Sfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 334205 chr7 151065034 151065034 G T NUB1 Nonsynonymous SNV A383S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 334206 chr7 30962259 30962294 GGTAGGAGACCCACGGGGGGTGGGGTGGGAAGCTTT - AQP1 Stop gain W210* 0 0 0.003 0 0 0 0 1 0 0 0 0 334207 chr7 4167059 4167059 G A rs144535926 SDK1 Synonymous SNV S1290S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.2 334208 chr7 43496003 43496003 C T HECW1 Nonsynonymous SNV R836W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 334209 chr7 44805914 44805914 C T rs371764582 ZMIZ2 Synonymous SNV T772T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 334210 chr7 65419356 65419356 A T rs577125188 VKORC1L1 Nonsynonymous SNV I164F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.082 334211 chr7 75959248 75959248 G A rs757708675 YWHAG Synonymous SNV Y130Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.254 334212 chr7 77240102 77240102 T C rs142979428 PTPN12 Synonymous SNV N131N 0 0 0.003 0 0 0 0 1 0 0 0 0 5.91 334213 chr7 91788428 91788428 A G rs61740629 LRRD1 Synonymous SNV N669N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.025 334214 chr8 104384810 104384810 A G rs6995610 CTHRC1 Nonsynonymous SNV K11E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.636 334215 chr8 105601100 105601100 T G LRP12 Nonsynonymous SNV E9A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.4 334216 chr8 13425413 13425413 C G C8orf48 Nonsynonymous SNV L305V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.2 334217 chr8 134296547 134296547 C T rs747266532 NDRG1 Nonsynonymous SNV R3Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334218 chr8 144885646 144885646 G A rs373217837 SCRIB Synonymous SNV H1170H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.614 334219 chr8 145623786 145623786 G A rs201246127 CPSF1 Synonymous SNV F600F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 334220 chr8 145731753 145731753 C G rs757715535 GPT Synonymous SNV P365P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.385 334221 chr8 145738713 145738713 C T rs536096413 RECQL4 Nonsynonymous SNV R784Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 334222 chr8 1626721 1626721 C G DLGAP2 Nonsynonymous SNV A877G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 334223 chr8 17817613 17817613 A G rs778829261 PCM1 Nonsynonymous SNV N711D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 334224 chr8 19221706 19221706 T C rs747272557 SH2D4A Nonsynonymous SNV L232S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334225 chr8 25266345 25266345 A G rs754449630 DOCK5 Nonsynonymous SNV K1765E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 334226 chr8 35453172 35453172 C T rs140504228 UNC5D Synonymous SNV A184A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.24 334227 chr8 39613309 39613314 TGGCAA - rs765355590 ADAM2 F558_S560delinsC 0 0 0.003 0 0 0 0 1 0 0 0 0 334228 chr8 53570430 53570430 T C RB1CC1 Synonymous SNV S653S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 334229 chr8 6479738 6479738 G A rs77860145 MIR8055 0 0 0.003 0 0 0 0 1 0 0 0 0 1.081 334230 chr9 107288822 107288822 G A OR13C4 Synonymous SNV Y223Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 334231 chr9 117139025 117139025 C T rs777933782 AKNA Synonymous SNV L235L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.38 334232 chr9 130581937 130581937 C T rs963830488 ENG Synonymous SNV A425A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.9 334233 chr9 130892334 130892334 C T rs62585395 PTGES2-AS1 0 0 0.007 0 0 0 0 2 0 0 1 0 3.339 334234 chr9 131939416 131939416 G A rs750348251 IER5L Nonsynonymous SNV P306S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.24 334235 chr9 134103716 134103716 C T rs748048194 NUP214 Synonymous SNV F850F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 334236 chr9 134349014 134349014 G T rs755859078 PRRC2B Nonsynonymous SNV V743L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 334237 chr9 138235966 138235966 G T rs760296443 C9orf62 Nonsynonymous SNV G58W 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 334238 chr9 140509987 140509987 T A rs924480964 ARRDC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.271 334239 chr9 140510153 140510153 G A rs758887006 ARRDC1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.62 334240 chr9 14658845 14658845 G A rs140416852 ZDHHC21 Synonymous SNV L39L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 334241 chr9 74838066 74838066 C T rs145088768 GDA Nonsynonymous SNV R213C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334242 chr9 95277103 95277103 G A ECM2 Synonymous SNV D266D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.31 334243 chrM 1020 1020 G A RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 334244 chrM 1740 1740 T C RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 334245 chrM 2760 2760 G A RNR2 0 0 0.007 0 0 0 0 2 0 0 1 0 334246 chrM 712 712 T C RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 334247 chrM 827 827 T A RNR1 0 0 0.007 0 0 0 0 2 0 0 1 0 334248 chrUn_gl000219 56498 56498 T C LOC105379477, LOC283788 0 0 0.003 0 0 0 0 1 0 0 0 0 334249 chrX 151092707 151092707 C G rs141071979 MAGEA4 Nonsynonymous SNV L191V 0 0 0.007 0 0 0 0 2 0 0 1 0 0.082 334250 chrX 152482609 152482609 T G rs146942997 MAGEA1 Nonsynonymous SNV K134N 0 0 0.007 0 0 0 0 2 0 0 1 0 21.9 334251 chr10 100152302 100152302 T C PYROXD2 Nonsynonymous SNV N317D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.816 334252 chr10 103826602 103826602 C T rs751167149 HPS6 Synonymous SNV T457T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.53 334253 chr10 104119031 104119031 G T GBF1 Nonsynonymous SNV G340V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.62 334254 chr10 107022215 107022215 G A rs767360099 SORCS3 Synonymous SNV E1190E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.47 334255 chr10 116335284 116335284 G A rs377618283 ABLIM1 Nonsynonymous SNV R92W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334256 chr10 12856239 12856239 C G rs538372009 CAMK1D Synonymous SNV L229L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 334257 chr10 14816506 14816506 G A FAM107B Nonsynonymous SNV R53C 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 334258 chr10 50532822 50532822 G A rs141458614 C10orf71 Synonymous SNV Q744Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.428 334259 chr10 50859982 50859982 A G rs770511614 CHAT Nonsynonymous SNV T404A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.98 334260 chr10 72292825 72292825 G A rs775967983 PALD1 Nonsynonymous SNV R290Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334261 chr10 91177139 91177139 A C rs142455548 IFIT5 Nonsynonymous SNV K61N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 334262 chr10 98146731 98146731 C T rs142908871 TLL2 Nonsynonymous SNV A611T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 334263 chr11 12183957 12183957 G A rs56834315 MICAL2 Synonymous SNV T85T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.54 334264 chr11 12533079 12533079 T C rs774021214 PARVA Synonymous SNV H245H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.88 334265 chr11 20388758 20388758 C T rs112368564 HTATIP2 Synonymous SNV Y78Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.929 334266 chr11 22301215 22301215 C G rs34969327 ANO5 Nonsynonymous SNV N881K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.326 334267 chr11 26714114 26714114 C T SLC5A12 Nonsynonymous SNV V359M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334268 chr11 2909497 2909497 C T rs530520108 SLC22A18AS Synonymous SNV A122A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.58 334269 chr11 33720035 33720035 G A C11orf91 Synonymous SNV D174D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.854 334270 chr11 45869080 45869080 G A rs370995078 CRY2 Synonymous SNV P13P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.12 334271 chr11 5373462 5373462 A C rs368360716 OR51B6 Nonsynonymous SNV H242P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 334272 chr11 55860958 55860958 A G OR8I2 Nonsynonymous SNV M59V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.91 334273 chr11 62297815 62297815 G A rs149654517 AHNAK Synonymous SNV D1358D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.907 334274 chr11 63585784 63585784 C A rs780393570 SPINDOC Nonsynonymous SNV P185Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.48 334275 chr11 64518907 64518907 A G rs142008108 PYGM Nonsynonymous SNV I532T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 334276 chr11 64667994 64667994 T C ATG2A Nonsynonymous SNV H1471R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 334277 chr12 112337994 112337994 A T ADAM1A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.927 334278 chr12 112486129 112486129 C T rs759992055 NAA25 Nonsynonymous SNV R616Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 334279 chr12 131456073 131456073 C T rs151336307 ADGRD1 Synonymous SNV Y86Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.717 334280 chr12 1741882 1741882 G T rs138238149 WNT5B Nonsynonymous SNV V47L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.05 334281 chr12 27825403 27825403 T C rs35670331 PPFIBP1 Nonsynonymous SNV C300R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 334282 chr12 27877018 27877018 G A rs763066388 MRPS35 Nonsynonymous SNV E141K 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 334283 chr12 43748044 43748044 T C ADAMTS20 Nonsynonymous SNV M1901V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.695 334284 chr12 46321458 46321458 T C SCAF11 Nonsynonymous SNV K676E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 334285 chr12 4848337 4848337 G T rs143866477 GALNT8 Nonsynonymous SNV R173L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.93 334286 chr12 53514668 53514668 G A rs895618010 SOAT2 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 334287 chr12 53588066 53588066 G A rs552528072 ITGB7 Synonymous SNV Y408Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.274 334288 chr12 57921734 57921734 G T rs150653337 MBD6 Synonymous SNV G780G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.913 334289 chr12 8212556 8212556 G C rs201626033 C3AR1 Nonsynonymous SNV P76A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 334290 chr13 109535432 109535432 C T rs1020843490 MYO16 Nonsynonymous SNV S484L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.54 334291 chr13 33590919 33590919 C A rs765806592 KL Nonsynonymous SNV P114Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.099 334292 chr13 43896579 43896579 T G ENOX1 Nonsynonymous SNV E436A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334293 chr13 52603895 52603895 C T rs376414131 UTP14C Nonsynonymous SNV R319C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 334294 chr13 99361006 99361006 C T rs761381923 SLC15A1 Nonsynonymous SNV M361I 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 334295 chr14 105180975 105180975 G A rs200591522 INF2 Nonsynonymous SNV R1159H 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.068 334296 chr14 105407389 105407389 G C rs927441860 AHNAK2 Nonsynonymous SNV P4700R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 334297 chr14 21623826 21623828 AAG - rs763839581 OR5AU1 F68del 0 0 0.003 0 0 0 0 1 0 0 0 0 334298 chr14 23415772 23415772 G A rs148445489 HAUS4 Nonsynonymous SNV R307W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334299 chr14 23826619 23826619 C G rs753273663 EFS Nonsynonymous SNV R408T 0 0 0.007 0 0 0 0 2 0 0 0 0 24.8 334300 chr14 31619407 31619407 A G rs775410545 HECTD1 Synonymous SNV D651D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.786 334301 chr14 55326401 55326401 C T rs150158277 GCH1 Synonymous SNV A169A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.485 334302 chr14 60620697 60620697 C T DHRS7 Nonsynonymous SNV V75I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 334303 chr14 64936334 64936334 A G rs753889145 AKAP5 Nonsynonymous SNV I408V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.473 334304 chr14 69256787 69256787 G A rs770415552 ZFP36L1 Synonymous SNV T160T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.795 334305 chr14 71555111 71555111 G A PCNX1 Nonsynonymous SNV R1690Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334306 chr14 75375832 75375832 C G RPS6KL1 Nonsynonymous SNV E211D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 334307 chr14 77269818 77269818 C T rs775354721 ANGEL1 Nonsynonymous SNV R505H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 334308 chr14 94526808 94526808 G A rs754809380 DDX24 Nonsynonymous SNV P517S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 334309 chr15 34134157 34134157 G A RYR3 Nonsynonymous SNV C4372Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 334310 chr15 36984351 36984351 G A rs767414493 C15orf41 Nonsynonymous SNV G114R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 334311 chr15 40662317 40662317 - GAA rs752967674 DISP2 K1336_R1337insK 0 0 0.003 0 0 0 0 1 0 0 0 0 334312 chr15 41857252 41857252 C T rs201774612 TYRO3 Synonymous SNV T187T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 334313 chr15 44828925 44828925 G A EIF3J-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 334314 chr15 45702647 45702647 C T rs747160464 SPATA5L1 Synonymous SNV S451S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 334315 chr15 52242176 52242176 A G rs201256211 LEO1 Synonymous SNV L483L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.582 334316 chr15 55669328 55669328 G A rs199909580 CCPG1 Synonymous SNV P91P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.994 334317 chr15 59359263 59359263 G T rs758130009 RNF111 Nonsynonymous SNV G556V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 334318 chr15 69672338 69672338 G T PAQR5 Nonsynonymous SNV L56F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 334319 chr15 75648687 75648687 C T rs770148982 MAN2C1 Synonymous SNV A848A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.57 334320 chr15 85360377 85360377 C G ALPK3 Synonymous SNV P100P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 334321 chr15 90617777 90617777 T C rs147134867 ZNF710-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 16.08 334322 chr15 91496753 91496753 G A rs749077342 UNC45A Nonsynonymous SNV R736Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.6 334323 chr15 94841631 94841631 G A rs61735139 MCTP2 Nonsynonymous SNV R46H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 22.6 334324 chr16 10864155 10864155 C T rs371043030 TVP23A Nonsynonymous SNV E206K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.423 334325 chr16 21049276 21049276 T C rs762847745 DNAH3 Nonsynonymous SNV Y1540C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 334326 chr16 3021349 3021350 AT - PAQR4 M81Vfs*114 0 0 0.003 0 0 0 0 1 0 0 0 0 334327 chr16 31470232 31470232 G A ARMC5 Nonsynonymous SNV V55I 0 0 0.003 0 0 0 0 1 0 0 0 0 8.482 334328 chr16 324989 324989 G A rs764683385 RGS11 Nonsynonymous SNV P102L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.679 334329 chr16 3705907 3705907 G A DNASE1 Nonsynonymous SNV A69T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 334330 chr16 4748819 4748819 G A rs141809607 ANKS3 Synonymous SNV L338L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.45 334331 chr16 49764731 49764731 G A rs138148545 ZNF423 Synonymous SNV F16F 0 0 0.003 0 0 0 0 1 0 0 0 0 12.07 334332 chr16 55584900 55584900 T C rs369829157 LPCAT2 Synonymous SNV Y367Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.832 334333 chr16 55584945 55584945 A G rs375879329 LPCAT2 Synonymous SNV E382E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.834 334334 chr16 68719139 68719139 C A rs747926533 CDH3 Nonsynonymous SNV L431I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334335 chr16 70843824 70843824 G A HYDIN Synonymous SNV Y4915Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.812 334336 chr16 72991713 72991713 - CGCCGCCG ZFHX3 Frameshift insertion A778Rfs*49 0 0 0.003 0 0 0 0 1 0 0 0 0 334337 chr16 84199474 84199474 A C rs779928651 DNAAF1 Nonsynonymous SNV I65L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.57 334338 chr16 85706061 85706061 G A rs558161220 GSE1 Synonymous SNV Q1086Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.188 334339 chr16 88500964 88500964 C T ZNF469 Synonymous SNV S2362S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 334340 chr16 88767706 88767706 T C RNF166 Synonymous SNV S92S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.646 334341 chr16 89574971 89574971 C T rs758294851 SPG7 Nonsynonymous SNV P49L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 334342 chr16 89816209 89816209 G A rs377633991 FANCA Synonymous SNV L1056L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.849 334343 chr17 21319359 21319359 G A rs147653221 KCNJ12, KCNJ18 Synonymous SNV P235P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.805 334344 chr17 26687823 26687823 G A rs782759411 TMEM199 Nonsynonymous SNV V162I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 334345 chr17 26911492 26911492 C T rs140086700 SPAG5 Nonsynonymous SNV R723Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.72 334346 chr17 27031070 27031070 C T rs114236344 PROCA1 Nonsynonymous SNV G57S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.4 334347 chr17 27085971 27085971 C T rs200444762 FAM222B Nonsynonymous SNV A336T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.539 334348 chr17 34308400 34308400 C T rs116518274 CCL16 Synonymous SNV S19S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 334349 chr17 38420822 38420822 G A rs375457829 WIPF2 Nonsynonymous SNV G132R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 334350 chr17 39412065 39412065 C T rs767313021 KRTAP9-9 Nonsynonymous SNV A143V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.47 334351 chr17 39659220 39659220 C T rs148399399 KRT13 Nonsynonymous SNV R289H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334352 chr17 40021591 40021591 C G rs373544938 KLHL11 Synonymous SNV A11A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 334353 chr17 40275167 40275167 A G rs76773889 HSPB9 Nonsynonymous SNV K100R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 334354 chr17 41180212 41180212 G A RND2 Synonymous SNV Q145Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 334355 chr17 42389954 42389954 T C rs779641434 RUNDC3A Synonymous SNV S38S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.12 334356 chr17 5264674 5264674 G A RABEP1 Nonsynonymous SNV G380S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 334357 chr17 56329598 56329598 G A rs375737858 LPO Nonsynonymous SNV R196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334358 chr17 59668199 59668199 G A rs140262638 NACA2 Nonsynonymous SNV P115S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 334359 chr17 71746627 71746627 G A rs763560582 LINC00469 0 0 0.003 0 0 0 0 1 0 0 0 0 0.121 334360 chr17 73917372 73917372 A G rs149105732 FBF1 Nonsynonymous SNV C543R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.812 334361 chr17 78023862 78023862 G C CCDC40 0 0 0.003 0 0 0 0 1 0 0 0 0 19.62 334362 chr17 7814797 7814797 C T rs147004540 CHD3 Nonsynonymous SNV P1932L 0 0 0.003 0 0 0 0 1 0 0 0 0 29 334363 chr17 953419 953419 C T rs767876120 ABR Synonymous SNV E336E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 334364 chr18 13671959 13671959 C A rs762433160 FAM210A Nonsynonymous SNV V163F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 334365 chr18 2666869 2666869 A G rs200521548 SMCHD1 Nonsynonymous SNV D88G 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.95 334366 chr19 12429764 12429764 G T rs373899518 ZNF563 Nonsynonymous SNV H359N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334367 chr19 13882972 13882972 C G rs139273361 MRI1 Synonymous SNV P329P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 334368 chr19 17516329 17516329 C T rs376557702 BST2 Nonsynonymous SNV R19H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.03 334369 chr19 18778894 18778894 G A rs150852328 KLHL26 Synonymous SNV A258A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.084 334370 chr19 2408423 2408423 C T rs148516299 TMPRSS9 Synonymous SNV T270T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.4 334371 chr19 35614356 35614356 A C rs888643572 FXYD3 Nonsynonymous SNV S113R 0 0 0.003 0 0 0 0 1 0 0 0 0 17.19 334372 chr19 36110988 36110988 T C rs781344532 HAUS5 Nonsynonymous SNV I494T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.511 334373 chr19 36212293 36212293 C T rs767061636 KMT2B Nonsynonymous SNV P682S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 334374 chr19 38573417 38573417 C T SIPA1L3 Synonymous SNV D404D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.946 334375 chr19 38817471 38817471 G A KCNK6 Synonymous SNV V187V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.357 334376 chr19 39299546 39299546 G A rs148221331 LGALS4 Synonymous SNV D59D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.049 334377 chr19 41223331 41223331 C T rs754470821 ITPKC Synonymous SNV P97P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.865 334378 chr19 44096772 44096772 C T rs114508854 IRGQ Synonymous SNV E426E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.826 334379 chr19 44222853 44222853 C T IRGC Nonsynonymous SNV A48V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334380 chr19 45579081 45579081 G A ZNF296, GEMIN7 Nonsynonymous SNV T113I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 334381 chr19 48182880 48182880 C T rs910621563 BICRA Synonymous SNV A151A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.693 334382 chr19 49448112 49448112 G A rs374394567 DHDH Synonymous SNV S309S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.806 334383 chr19 49968002 49968002 G A rs141388688 ALDH16A1 Synonymous SNV G466G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.715 334384 chr19 55494831 55494831 G T rs150431153 NLRP2 Nonsynonymous SNV D567Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 334385 chr19 56701842 56701842 A G rs111915100 ZSCAN5B Nonsynonymous SNV L281S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334386 chr19 58153437 58153437 G A rs768584796 ZNF211 Nonsynonymous SNV R467H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334387 chr19 7528758 7528758 C T rs150442510 ARHGEF18 Nonsynonymous SNV A655V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.218 334388 chr19 814612 814612 G A rs374654300 PLPPR3 Nonsynonymous SNV P246L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.089 334389 chr19 8953607 8953607 A C MBD3L1 Nonsynonymous SNV S85R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.75 334390 chr1 101361856 101361856 C T rs140152448 SLC30A7 Nonsynonymous SNV P13L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 334391 chr1 10715841 10715841 G A rs373017508 CASZ1 Synonymous SNV R510R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.301 334392 chr1 109807188 109807188 C T CELSR2 Nonsynonymous SNV P1801L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 334393 chr1 110050869 110050869 G A rs775998945 AMIGO1 Synonymous SNV P222P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.848 334394 chr1 11826660 11826660 G A rs746268966 C1orf167 Nonsynonymous SNV G273S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.033 334395 chr1 1269796 1269796 C G rs150371886 TAS1R3 Synonymous SNV A837A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.686 334396 chr1 1354756 1354756 G A rs552630536 ANKRD65 Nonsynonymous SNV T128M 0 0 0.003 0 0 0 0 1 0 0 0 0 1.142 334397 chr1 147090943 147090943 C A BCL9 Nonsynonymous SNV P328T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 334398 chr1 152777768 152777768 T C rs752335872 LCE1C Nonsynonymous SNV S63G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.37 334399 chr1 156534434 156534434 C T rs749747273 IQGAP3 Nonsynonymous SNV R137Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334400 chr1 156810750 156810750 C T rs759671540 INSRR Nonsynonymous SNV G1270D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.111 334401 chr1 158436189 158436189 A T rs372501761 OR10K1 Nonsynonymous SNV I280F 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 334402 chr1 167095044 167095044 G C rs144186156 DUSP27 Nonsynonymous SNV E226Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25 334403 chr1 167096672 167096672 C T rs145856876 DUSP27 Synonymous SNV V768V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.224 334404 chr1 176526225 176526225 C T PAPPA2 Nonsynonymous SNV S256F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334405 chr1 200974021 200974021 G A rs779179528 KIF21B Nonsynonymous SNV P258L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.25 334406 chr1 201063104 201063104 C T rs753901380 CACNA1S Nonsynonymous SNV A102T 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334407 chr1 216850515 216850515 C T rs377085883 ESRRG Synonymous SNV K102K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.9 334408 chr1 225600291 225600291 C T rs532068854 LBR Nonsynonymous SNV V317I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.045 334409 chr1 228289102 228289102 C T rs762922079 C1orf35 Synonymous SNV K202K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.87 334410 chr1 233105674 233105674 C A NTPCR Nonsynonymous SNV P105Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.655 334411 chr1 235897907 235897907 C T rs35333195 LYST Nonsynonymous SNV G2804D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.2 334412 chr1 235909751 235909751 A G rs34160788 LYST Synonymous SNV H2619H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.128 334413 chr1 235909815 235909815 A T rs34642241 LYST Nonsynonymous SNV F2598Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 15.76 334414 chr1 235920740 235920740 C T rs10926586 LYST Synonymous SNV L2300L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 13.07 334415 chr1 235969386 235969386 C T rs10465613 LYST Nonsynonymous SNV S1017N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 334416 chr1 235973544 235973544 A C rs7524261 LYST Nonsynonymous SNV L192V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 334417 chr1 237802461 237802461 C A rs200921429 RYR2 Synonymous SNV R2359R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.31 334418 chr1 29359746 29359746 C T rs199751917 EPB41 Nonsynonymous SNV R417W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334419 chr1 33233399 33233399 G A rs545543684 KIAA1522 Nonsynonymous SNV A24T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 334420 chr1 39878089 39878089 G A rs199527234 KIAA0754 Nonsynonymous SNV D718N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.4 334421 chr1 40092698 40092698 G A rs41264505 HEYL Synonymous SNV Y156Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.644 334422 chr1 41157447 41157447 C T rs546661357 NFYC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 334423 chr1 43772592 43772592 C T rs183910355 TIE1 Nonsynonymous SNV S144L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.22 334424 chr1 43917518 43917518 G A rs201415941 HYI Nonsynonymous SNV A169V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 334425 chr1 53569148 53569148 C T rs763080714 SLC1A7 Synonymous SNV E117E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 334426 chr1 54640368 54640368 G A rs751330524 CYB5RL Nonsynonymous SNV S212L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 334427 chr1 65887108 65887108 C T LEPROT Synonymous SNV D3D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.9 334428 chr1 85487849 85487849 C T rs148052305 MCOLN3 Synonymous SNV A352A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 334429 chr1 85630428 85630428 T C rs191147544 SYDE2 Nonsynonymous SNV M956V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334430 chr1 87598387 87598387 C G rs569507858 LINC01140 0 0 0.003 0 0 0 0 1 0 0 0 0 7.045 334431 chr1 883919 883919 G C NOC2L Nonsynonymous SNV S503C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 334432 chr20 3687331 3687331 G A SIGLEC1 Synonymous SNV S24S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.48 334433 chr20 44259546 44259546 G A rs765872615 WFDC10A Synonymous SNV Q43Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 334434 chr20 48565863 48565863 C T rs776148672 RNF114 Nonsynonymous SNV R198W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.7 334435 chr20 51872870 51872870 G A rs766136923 TSHZ2 Nonsynonymous SNV R955H 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 334436 chr20 61510907 61510924 TCCCGGGGCCGGTCCCAG - rs772260871 DIDO1 D2128_R2133del 0 0 0.003 0 0 0 0 1 0 0 0 0 334437 chr21 41711273 41711273 A G rs772442953 DSCAM Nonsynonymous SNV M427T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.626 334438 chr21 43505466 43505466 G C UMODL1 Nonsynonymous SNV E183Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334439 chr21 44590481 44590481 G A rs1028879812 CRYAA, CRYAA2 Nonsynonymous SNV A14T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.48 334440 chr22 19839373 19839373 G A rs547046193 RTL10 Nonsynonymous SNV R138C 0 0 0.003 0 0 0 0 1 0 0 0 0 10.36 334441 chr22 21356297 21356297 C T THAP7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 334442 chr22 21385780 21385780 C T rs770834640 SLC7A4 Nonsynonymous SNV V108I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334443 chr22 23494651 23494651 C T rs148855753 RAB36 Synonymous SNV L121L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.15 334444 chr22 25577758 25577758 G T KIAA1671 Nonsynonymous SNV A1723S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.11 334445 chr22 26239752 26239752 C T MYO18B Nonsynonymous SNV H1088Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 334446 chr22 28495014 28495014 A T TTC28 Nonsynonymous SNV L1146M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 334447 chr22 37400013 37400013 C T rs1016142561 TEX33 Nonsynonymous SNV G6R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.548 334448 chr22 38106473 38106473 G A rs147691840 TRIOBP Nonsynonymous SNV D52N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 334449 chr22 44323041 44323041 C T rs768191646 PNPLA3 Synonymous SNV V138V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.91 334450 chr2 102027132 102027132 G T rs58967721 RFX8 Synonymous SNV L83L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.868 334451 chr2 160087103 160087103 G A rs746679276 TANC1 Synonymous SNV P1521P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.39 334452 chr2 161052729 161052729 G T ITGB6 Nonsynonymous SNV P73Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334453 chr2 179434864 179434864 C G rs779031787 TTN Nonsynonymous SNV G16267A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.41 334454 chr2 179603986 179603986 T C rs775718776 TTN Synonymous SNV T4295T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 334455 chr2 179732824 179732824 C T rs764586583 CCDC141 Nonsynonymous SNV A835T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 334456 chr2 192700936 192700936 C T rs752805994 CAVIN2 Nonsynonymous SNV E331K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 334457 chr2 207027003 207027003 C G rs372481081 SNORA41 0 0 0.003 0 0 0 0 1 0 0 0 0 15.34 334458 chr2 207175218 207175218 C T rs748356379 ZDBF2 Nonsynonymous SNV T1989I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 334459 chr2 207175244 207175244 A G rs770042728 ZDBF2 Nonsynonymous SNV K1998E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.433 334460 chr2 219249006 219249006 C T rs750367937 SLC11A1 Nonsynonymous SNV P64L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 334461 chr2 219294367 219294367 G A rs554885061 VIL1 Nonsynonymous SNV R273Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 334462 chr2 227922270 227922270 G C rs769363556 COL4A4 Synonymous SNV G810G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.29 334463 chr2 238991956 238991956 T C SCLY Nonsynonymous SNV M282T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 334464 chr2 24426604 24426604 T G rs141928614 ITSN2 Nonsynonymous SNV Q1622P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 334465 chr2 27680822 27680822 C T IFT172 Synonymous SNV E999E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.66 334466 chr2 29149374 29149374 A T WDR43 Nonsynonymous SNV D376V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 334467 chr2 33150449 33150449 G A rs531685084 LINC00486 0 0 0.003 0 0 0 0 1 0 0 0 0 0.811 334468 chr2 39893251 39893251 G A rs778771460 TMEM178A Nonsynonymous SNV S46N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 334469 chr2 43452502 43452502 G C rs149110274 ZFP36L2 Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.048 334470 chr2 74314992 74314992 C G TET3 Synonymous SNV L812L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.746 334471 chr2 74752304 74752304 G A rs761038248 DQX1 Nonsynonymous SNV A88V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.419 334472 chr2 96874295 96874295 G A rs1006647898 STARD7-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 334473 chr2 97498316 97498316 C T rs779447766 CNNM3 Nonsynonymous SNV P648L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 334474 chr2 99012357 99012357 C G rs761494287 CNGA3 Nonsynonymous SNV H224D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.845 334475 chr3 101520504 101520504 T C NXPE3 Synonymous SNV F173F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.198 334476 chr3 107779598 107779598 C T rs181737868 CD47 Nonsynonymous SNV V198I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.02 334477 chr3 137729226 137729226 C T rs201156499 CLDN18 Synonymous SNV C53C 0 0 0.003 0 0 0 0 1 0 0 0 0 16 334478 chr3 142987720 142987720 A G rs752149844 SLC9A9 Synonymous SNV Y569Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.472 334479 chr3 148897378 148897378 G A rs767188986 CP Nonsynonymous SNV P876S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334480 chr3 151055684 151055684 T C rs754141331 P2RY12 Nonsynonymous SNV N317S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334481 chr3 151475310 151475310 T A rs747625827 AADACL2 Synonymous SNV T378T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.562 334482 chr3 153995497 153995497 A G rs768118881 DHX36 Nonsynonymous SNV Y846H 0 0 0.003 0 0 0 0 1 0 0 0 0 18.69 334483 chr3 154802009 154802009 C T rs755684422 MME Nonsynonymous SNV P18L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 334484 chr3 183976084 183976084 C T rs772185956 EEF1AKMT4 Synonymous SNV R163R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.53 334485 chr3 18436359 18436359 G C rs764362388 SATB1 Synonymous SNV V195V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.707 334486 chr3 195965683 195965683 T C PCYT1A Nonsynonymous SNV E327G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.22 334487 chr3 38047391 38047391 G A rs368514355 VILL Nonsynonymous SNV V484M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 334488 chr3 48461372 48461372 G C PLXNB1 Nonsynonymous SNV P775A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 334489 chr3 48624478 48624478 C T rs753761607 COL7A1 Nonsynonymous SNV R1068H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.17 334490 chr3 52404165 52404165 A T DNAH1 Nonsynonymous SNV I2060F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 334491 chr3 53908371 53908371 C T ACTR8 Nonsynonymous SNV G311E 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334492 chr3 69151070 69151070 A G ARL6IP5 Nonsynonymous SNV N86S 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334493 chr4 110415976 110415976 T C SEC24B Synonymous SNV S449S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.289 334494 chr4 13601411 13601411 G A rs755457959 BOD1L1 Synonymous SNV H2371H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 334495 chr4 52927053 52927053 C T SPATA18 Nonsynonymous SNV P100L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 334496 chr4 71509995 71509995 C T rs561402393 ENAM Nonsynonymous SNV T733M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 334497 chr5 111496549 111496549 A C EPB41L4A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.402 334498 chr5 125805398 125805398 T C rs145730327 GRAMD2B Nonsynonymous SNV L93S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.94 334499 chr5 140011551 140011551 G A rs368708682 CD14 Nonsynonymous SNV H340Y 0 0 0.003 0 0 0 0 1 0 0 0 0 18.59 334500 chr5 149240515 149240515 C T rs376909494 PDE6A Synonymous SNV P842P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.324 334501 chr5 154346305 154346305 C T rs113240119 MRPL22 Nonsynonymous SNV R77C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 334502 chr5 159821793 159821793 A G ZBED8 Synonymous SNV D235D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.194 334503 chr5 172385482 172385482 G A rs901064809 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 9.276 334504 chr5 176821060 176821060 G T rs73336286 SLC34A1 Synonymous SNV P346P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.974 334505 chr5 180219845 180219845 G C rs199590721 MGAT1 Nonsynonymous SNV L43V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 334506 chr5 180277959 180277959 C T rs745937989 ZFP62 Nonsynonymous SNV R179Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 334507 chr5 38952435 38952435 C T rs138880117 RICTOR Nonsynonymous SNV R997H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 334508 chr5 65105928 65105928 G A rs750131777 NLN Synonymous SNV S593S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.21 334509 chr6 12161868 12161868 T C rs778010496 HIVEP1 Synonymous SNV T2228T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 334510 chr6 132938629 132938629 T C TAAR2 Nonsynonymous SNV H194R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 334511 chr6 135239757 135239757 C T rs142071162 ALDH8A1 Synonymous SNV A370A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.45 334512 chr6 142688779 142688779 C T rs747867805 ADGRG6 Synonymous SNV N59N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.85 334513 chr6 152673440 152673440 G A rs371013745 SYNE1 Nonsynonymous SNV R3753W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 32 334514 chr6 160543066 160543066 G A rs560595462 SLC22A1 Synonymous SNV A33A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.229 334515 chr6 161160158 161160158 G A rs369196761 PLG Nonsynonymous SNV E646K 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 334516 chr6 17648119 17648119 C T NUP153 Synonymous SNV P517P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.959 334517 chr6 40360312 40360312 G A rs775496831 LRFN2 Synonymous SNV N580N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 334518 chr6 41774066 41774066 G C USP49 Nonsynonymous SNV A219G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 334519 chr7 100681266 100681266 C A rs142126972 MUC17 Nonsynonymous SNV T2190K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.704 334520 chr7 100681293 100681293 G A rs141217694 MUC17 Nonsynonymous SNV R2199H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.797 334521 chr7 107743488 107743488 C T rs776821147 LAMB4 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 334522 chr7 113519090 113519091 CA - PPP1R3A W686Gfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 334523 chr7 120876787 120876787 A G CPED1 Nonsynonymous SNV H692R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 334524 chr7 131189106 131189106 C T PODXL Synonymous SNV K515K 0 0 0.003 0 0 0 0 1 0 0 0 0 17.14 334525 chr7 138482882 138482882 C T TMEM213 Synonymous SNV T11T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.77 334526 chr7 150417675 150417675 C A rs774081218 GIMAP1 Synonymous SNV R195R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 334527 chr7 1536808 1536808 C T rs374284848 INTS1 Nonsynonymous SNV R523H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334528 chr7 39379537 39379537 T C rs561479595 POU6F2 Nonsynonymous SNV S299P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.85 334529 chr7 4002471 4002471 C T rs138011826 SDK1 Synonymous SNV L473L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.83 334530 chr7 4839808 4839808 G A rs115606188 RADIL Synonymous SNV D992D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.948 334531 chr7 56155388 56155388 A G rs148807750 PHKG1 Synonymous SNV G55G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.92 334532 chr8 126071730 126071730 C T rs766834356 WASHC5 Nonsynonymous SNV D378N 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 334533 chr8 134225143 134225143 C G rs759578017 CCN4 Nonsynonymous SNV P36A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.64 334534 chr8 135622891 135622891 C T rs368907482 ZFAT Synonymous SNV E140E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.02 334535 chr8 139268995 139268995 T A rs199905964 FAM135B Nonsynonymous SNV D102V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 334536 chr8 139825182 139825182 C T rs375684016 COL22A1 Synonymous SNV P442P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.28 334537 chr8 142178455 142178455 C T rs147231668 DENND3 Synonymous SNV S702S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.43 334538 chr8 144644982 144644982 C G rs750004853 GSDMD Nonsynonymous SNV H455D 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 334539 chr8 144945020 144945020 G A EPPK1 Nonsynonymous SNV T801M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 334540 chr8 145731389 145731389 C T rs990023978 GPT Synonymous SNV D277D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.45 334541 chr8 17159742 17159742 C T rs773706780 MTMR7 Nonsynonymous SNV R514Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334542 chr8 22020095 22020095 C T rs752201591 SFTPC Synonymous SNV S17S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.33 334543 chr8 87568363 87568363 G A CPNE3 Nonsynonymous SNV V430M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334544 chr8 99441272 99441272 C T rs760805609 KCNS2 Synonymous SNV N355N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.356 334545 chr9 100190814 100190814 G A TDRD7 Nonsynonymous SNV A23T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 334546 chr9 101547144 101547144 G A ANKS6 Stop gain R293X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 334547 chr9 121929513 121929513 G A BRINP1 Nonsynonymous SNV P712L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 334548 chr9 130529184 130529184 C T rs551286390 SH2D3C Nonsynonymous SNV G103S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.321 334549 chr9 130891064 130891064 C A PTGES2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 334550 chr9 138591262 138591262 C T rs759696241 SOHLH1 Nonsynonymous SNV V18I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 334551 chr9 139642898 139642898 A G rs147978470 LCN6 Nonsynonymous SNV V13A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.013 334552 chr9 35842615 35842615 T C TMEM8B Synonymous SNV S60S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.071 334553 chr9 5765758 5765758 C G RIC1 Nonsynonymous SNV Q996E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.34 334554 chr9 94984803 94984803 C T rs202112475 IARS Synonymous SNV Q1235Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.138 334555 chr9 95233050 95233050 G A rs931378114 ASPN Synonymous SNV V95V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.076 334556 chr10 102738084 102738084 C T rs74154244 SEMA4G Synonymous SNV F156F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 334557 chr10 104632887 104632887 A G rs767695284 AS3MT Nonsynonymous SNV M119V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 334558 chr10 49986828 49986828 C T rs976546841 WDFY4 Synonymous SNV D1116D 0 0 0.003 0 0 0 0 1 0 0 0 0 15.82 334559 chr10 697186 697186 G A rs911312903 PRR26 Nonsynonymous SNV R119H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.957 334560 chr10 73578457 73578457 G A rs749660716 PSAP Nonsynonymous SNV H488Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.173 334561 chr10 96802763 96802763 T A CYP2C8 Nonsynonymous SNV M243L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 334562 chr10 99969040 99969040 - TGTTGATAGCCCTTATGTAGT rs949010230 R3HCC1L V397_A398insVDSPYVV 0 0 0.003 0 0 0 0 1 0 0 0 0 334563 chr11 1078140 1078140 C T rs147073675 MUC2 Synonymous SNV C169C 0 0 0.003 0 0 0 0 1 0 0 0 0 16.03 334564 chr11 114453570 114453570 G A rs371127636 NXPE4 Synonymous SNV H90H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.455 334565 chr11 125462331 125462331 C G rs955207007 STT3A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 9.143 334566 chr11 20948925 20948925 A G NELL1 Synonymous SNV G220G 0 0 0.003 0 0 0 0 1 0 0 0 0 10.35 334567 chr11 40136707 40136707 G T LRRC4C Nonsynonymous SNV T379K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.62 334568 chr11 46689381 46689381 T C ATG13 Synonymous SNV L250L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.986 334569 chr11 5373519 5373519 G T rs145119951 OR51B6 Nonsynonymous SNV R261M 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334570 chr11 5632462 5632462 G A rs753656825 TRIM6 Nonsynonymous SNV G278S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 334571 chr11 59376165 59376165 G C rs752689363 OSBP Nonsynonymous SNV T205S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.171 334572 chr11 62296427 62296427 A G rs754192468 AHNAK Nonsynonymous SNV F1821S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 334573 chr11 66204693 66204693 C G rs933300664 MRPL11 Nonsynonymous SNV E119Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 334574 chr11 66802253 66802253 G A rs139889939 SYT12 Nonsynonymous SNV D58N 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334575 chr11 67219798 67219798 G A rs367720617 GPR152 Nonsynonymous SNV A133V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.602 334576 chr11 71146861 71146861 C T rs139724817 DHCR7 Nonsynonymous SNV V330M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.6 334577 chr11 76871323 76871323 G A MYO7A Nonsynonymous SNV V399I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.9 334578 chr11 77884902 77884902 G A rs377058404 KCTD21 Synonymous SNV S233S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.719 334579 chr11 94331007 94331007 C A rs145908122 PIWIL4 Nonsynonymous SNV L436M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 334580 chr12 122353778 122353778 C T PSMD9 Nonsynonymous SNV T86I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.59 334581 chr12 132241156 132241156 A G rs144489820 SFSWAP Nonsynonymous SNV S563G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.114 334582 chr12 132335664 132335664 C T rs201041842 MMP17 Nonsynonymous SNV R553C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334583 chr12 18435230 18435230 A T rs373226538 PIK3C2G Nonsynonymous SNV D72V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 334584 chr12 22677427 22677430 TCTG - rs762195887 C2CD5 Q193Dfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 334585 chr12 30783893 30783893 T C rs780851403 IPO8 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 334586 chr12 39756944 39756944 A G rs143790968 KIF21A Synonymous SNV D325D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.942 334587 chr12 46320037 46320037 G A rs371897313 SCAF11 Synonymous SNV A1149A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.912 334588 chr12 4835938 4835938 C T rs547136904 GALNT8 Nonsynonymous SNV A151V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 334589 chr12 51882612 51882612 G A rs1045782037 SLC4A8 Nonsynonymous SNV V806I 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334590 chr12 58143008 58143008 G A rs201617914 CDK4 Nonsynonymous SNV S259L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.4 334591 chr12 75723635 75723635 C T CAPS2 Nonsynonymous SNV G2E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.031 334592 chr12 85638666 85638666 A G rs762647114 LRRIQ1 Nonsynonymous SNV R1706G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 334593 chr12 95926776 95926776 G A rs758636060 USP44 Synonymous SNV Y419Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.341 334594 chr13 38156507 38156507 C T rs373753100 POSTN Nonsynonymous SNV R463H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 334595 chr13 58209198 58209198 G C rs1010935604 PCDH17 Nonsynonymous SNV G840R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 334596 chr14 101349521 101349521 G A RTL1 Synonymous SNV F535F 0 0 0.003 0 0 0 0 1 0 0 0 0 2.472 334597 chr14 20854764 20854764 A G rs145784365 TEP1 Synonymous SNV L793L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.825 334598 chr14 21074393 21074394 AT - rs746444436 LOC254028 0 0 0.003 0 0 0 0 1 0 0 0 0 334599 chr14 23465226 23465226 G C C14orf93 Synonymous SNV T283T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.772 334600 chr14 33243055 33243055 G A rs374551617 AKAP6 Nonsynonymous SNV V1182I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 334601 chr14 50597461 50597461 G A SOS2 Nonsynonymous SNV S1032F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 334602 chr14 64678810 64678810 A G SYNE2 Synonymous SNV Q6285Q 0 0 0.003 0 0 0 0 1 0 0 0 0 6.899 334603 chr14 65260232 65260232 G A rs538347576 SPTB Nonsynonymous SNV R717C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 334604 chr14 71570309 71570309 C T rs148907451 PCNX1 Synonymous SNV H1895H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.58 334605 chr14 74539046 74539046 G A rs765634338 ALDH6A1 Nonsynonymous SNV R70W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 334606 chr15 23890688 23890688 C T MAGEL2 Synonymous SNV E734E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.756 334607 chr15 38990702 38990702 T G LINC02694 0 0 0.003 0 0 0 0 1 0 0 0 0 0.074 334608 chr15 42701570 42701570 G T rs187054121 CAPN3 Nonsynonymous SNV A150S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.3 334609 chr15 42740674 42740674 G A ZNF106 Nonsynonymous SNV P73S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 334610 chr15 43705365 43705365 G A rs140689367 TP53BP1 Nonsynonymous SNV R1751C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 334611 chr15 44090702 44090702 G A rs764264201 SERINC4 Synonymous SNV S153S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.73 334612 chr15 58254315 58254315 G A rs770783533 ALDH1A2 Synonymous SNV G286G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.821 334613 chr15 66807935 66807935 T C ZWILCH Synonymous SNV S91S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.405 334614 chr15 67496454 67496454 C G rs369410834 AAGAB Nonsynonymous SNV A141P 0 0 0.003 0 0 0 0 1 0 0 0 0 30 334615 chr15 75913297 75913297 C T SNUPN Synonymous SNV K32K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 334616 chr15 83502051 83502051 G A rs139107201 WHAMM Synonymous SNV A731A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.331 334617 chr15 90631928 90631928 A G rs767832682 IDH2 Nonsynonymous SNV I12T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334618 chr16 19871841 19871841 G A rs930922267 GPRC5B Nonsynonymous SNV T529I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 334619 chr16 21728262 21728262 T C rs138141474 OTOA Nonsynonymous SNV V184A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.21 334620 chr16 2200051 2200051 G A rs192614085 RAB26 Nonsynonymous SNV R102Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.3 334621 chr16 2293145 2293145 G A rs768697158 ECI1 Nonsynonymous SNV A198V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.41 334622 chr16 2514001 2514001 G A rs751696933 MIR6768 0 0 0.003 0 0 0 0 1 0 0 0 0 3.887 334623 chr16 2815872 2815874 AAC - SRRM2 T1782del 0 0 0.003 0 0 0 0 1 0 0 0 0 334624 chr16 28911937 28911937 G A rs201713188 ATP2A1 Synonymous SNV L475L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.11 334625 chr16 3350224 3350224 T C rs773631527 TIGD7 Nonsynonymous SNV N131D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 334626 chr16 3350495 3350495 T G rs774293285 TIGD7 Synonymous SNV S40S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334627 chr16 3487120 3487120 G A rs764838242 ZNF597 Synonymous SNV F193F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.141 334628 chr16 4802680 4802680 G C rs753759233 ZNF500 Synonymous SNV P380P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.313 334629 chr16 75204100 75204100 G A rs771055199 ZFP1 Synonymous SNV R331R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 334630 chr16 79632805 79632805 T C MAF Nonsynonymous SNV Q332R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 334631 chr16 84520376 84520376 C G MEAK7 Nonsynonymous SNV E273D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.34 334632 chr16 90110223 90110223 A G rs78058546 URAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 0.577 334633 chr17 10614419 10614419 T C rs142130192 ADPRM Synonymous SNV D329D 0 0 0.003 0 0 0 0 1 0 0 0 0 4.523 334634 chr17 1629862 1629862 G A WDR81 Nonsynonymous SNV V537I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 334635 chr17 1637334 1637334 A G WDR81 Nonsynonymous SNV K465R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334636 chr17 3030130 3030130 G A rs61736117 OR1G1 Nonsynonymous SNV S239F 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 334637 chr17 30668281 30668281 T C C17orf75 Nonsynonymous SNV S55G 0 0 0.003 0 0 0 0 1 0 0 0 0 17.11 334638 chr17 40344500 40344500 A G rs200841324 GHDC Synonymous SNV D216D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 334639 chr17 43227291 43227291 G C HEXIM1 Nonsynonymous SNV G245A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.263 334640 chr17 456675 456675 C - VPS53 D549Mfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 334641 chr17 4910336 4910336 C T rs139663513 KIF1C Nonsynonymous SNV T431M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.62 334642 chr17 5364306 5364306 T C rs758875230 DHX33 Nonsynonymous SNV N95D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.72 334643 chr17 74085326 74085326 C T EXOC7 Nonsynonymous SNV S285N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 334644 chr17 76554247 76554247 G A rs201170230 DNAH17 Synonymous SNV N707N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 334645 chr17 8018962 8018962 T C rs373520842 ALOXE3 Nonsynonymous SNV R133G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 334646 chr18 32887116 32887116 C T rs745461914 ZNF271P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 334647 chr18 46476544 46476561 GCGCCGGCGCCCGCGGCT - rs556829501 SMAD7 A80_A85del 0 0 0.003 0 0 0 0 1 0 0 0 0 334648 chr18 47463727 47463727 G A rs75107667 MYO5B Nonsynonymous SNV P598L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 12.77 334649 chr18 59899572 59899572 G T RELCH Nonsynonymous SNV R511L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334650 chr18 60230249 60230249 G A rs761427482 ZCCHC2 Nonsynonymous SNV G520S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.48 334651 chr18 67794800 67794800 C G rs147728279 RTTN Nonsynonymous SNV K195N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 21.1 334652 chr18 6961737 6961737 G A rs73390547 LAMA1 Synonymous SNV L2492L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.23 334653 chr19 1482438 1482438 G A rs773751308 PCSK4 Nonsynonymous SNV T578M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 334654 chr19 18047309 18047309 A T CCDC124 Nonsynonymous SNV D27V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 334655 chr19 20229262 20229262 T - rs574668818 ZNF90 Y301Mfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 334656 chr19 20229780 20229780 A G rs201831120 ZNF90 Nonsynonymous SNV I473V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.634 334657 chr19 3589486 3589486 C T rs367979198 GIPC3 Nonsynonymous SNV A213V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.55 334658 chr19 35941334 35941334 G A rs146776953 FFAR2 Nonsynonymous SNV V240M 0 0 0.003 0 0 0 0 1 0 0 0 0 11.17 334659 chr19 36038077 36038077 C T TMEM147 Synonymous SNV Y88Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.214 334660 chr19 36341962 36341962 C G rs540253444 NPHS1 Nonsynonymous SNV E143Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.4 334661 chr19 38901786 38901786 G A RASGRP4 Synonymous SNV V418V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.882 334662 chr19 4099265 4099265 C T rs150369301 MAP2K2 Nonsynonymous SNV D285N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 15.81 334663 chr19 43967765 43967765 G A LYPD3 Nonsynonymous SNV A123V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 334664 chr19 44536355 44536356 TG - rs768742808 ZNF222 C218Wfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 334665 chr19 44680827 44680827 G A rs61742481 ZNF226 Nonsynonymous SNV G471E 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 334666 chr19 46285595 46285595 G A rs373602912 DMPK Nonsynonymous SNV R6W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.55 334667 chr19 50713915 50713915 G A rs370947453 MYH14 Nonsynonymous SNV R98H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.7 334668 chr19 52869371 52869371 T C rs373260886 ZNF610 Nonsynonymous SNV L204P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334669 chr19 56443442 56443442 C A rs763183429 NLRP13 Nonsynonymous SNV G79V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.01 334670 chr19 56467086 56467086 C T rs770121679 NLRP8 Synonymous SNV H554H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.112 334671 chr19 57723671 57723671 C T rs966690982 ZNF264 Synonymous SNV L402L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.19 334672 chr19 57910759 57910759 T C rs779166238 ZNF548 Synonymous SNV S368S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.442 334673 chr19 57911156 57911156 G A ZNF548 Nonsynonymous SNV E501K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 334674 chr19 58981167 58981167 C T rs149546040 ZNF324 Nonsynonymous SNV T65M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.374 334675 chr19 6364573 6364573 G A rs372278206 CLPP Nonsynonymous SNV A160T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 334676 chr19 8968898 8968898 C T rs916124957 MUC16 Nonsynonymous SNV C14373Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 334677 chr1 110148591 110148591 C T GNAT2 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 334678 chr1 110171087 110171087 A G AMPD2 Synonymous SNV V438V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.13 334679 chr1 11254973 11254973 G A ANGPTL7 Nonsynonymous SNV E312K 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 334680 chr1 116675886 116675886 G A rs145242444 MAB21L3 Nonsynonymous SNV R330Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.75 334681 chr1 12336098 12336098 C T rs201820442 VPS13D Nonsynonymous SNV S818L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 334682 chr1 145474445 145474445 C T rs782438124 ANKRD34A Nonsynonymous SNV P373S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.44 334683 chr1 151315509 151315509 C T rs759307276 RFX5 Nonsynonymous SNV R335Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334684 chr1 151400338 151400338 C T rs774721621 POGZ Nonsynonymous SNV G252S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 334685 chr1 155240656 155240656 C G rs141175277 CLK2 Nonsynonymous SNV S38T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 334686 chr1 155701789 155701789 C G rs766644128 DAP3 Nonsynonymous SNV R286G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334687 chr1 158226848 158226848 T C rs140895583 CD1A Nonsynonymous SNV Y282H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.444 334688 chr1 15886050 15886050 C T rs764328213 DNAJC16 Synonymous SNV D39D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 334689 chr1 160187424 160187424 G A rs769621984 DCAF8 Synonymous SNV D584D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.14 334690 chr1 180904634 180904634 C G KIAA1614 Nonsynonymous SNV P530R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334691 chr1 183084683 183084683 C T rs35998781 LAMC1 Synonymous SNV Y413Y 0 0 0.003 0 0 0 0 1 0 0 0 0 12.5 334692 chr1 186909204 186909204 C T rs142795349 PLA2G4A Synonymous SNV D277D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.72 334693 chr1 201036025 201036025 T C rs553593355 CACNA1S Nonsynonymous SNV M883V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 334694 chr1 203316648 203316648 T C rs766198188 FMOD Nonsynonymous SNV M251V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.42 334695 chr1 206902748 206902748 C T rs555921913 MAPKAPK2 Synonymous SNV S164S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.36 334696 chr1 215848631 215848631 C T rs529589990 USH2A Nonsynonymous SNV D4208N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.65 334697 chr1 2160892 2160892 G C SKI Nonsynonymous SNV K229N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 334698 chr1 222827636 222827636 C T rs776000491 MIA3 Nonsynonymous SNV S336F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334699 chr1 228492057 228492057 G A rs754091602 OBSCN Nonsynonymous SNV A4686T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 334700 chr1 231829616 231829616 C T rs137948488 DISC1 Nonsynonymous SNV R38W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334701 chr1 26596095 26596095 G A rs76880849 CEP85 Nonsynonymous SNV A496T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 334702 chr1 28906080 28906080 G C SNHG12 0 0 0.003 0 0 0 0 1 0 0 0 0 1.423 334703 chr1 36785859 36785859 C T rs144085863 SH3D21 Nonsynonymous SNV T421M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334704 chr1 40961681 40961681 A C ZFP69 Nonsynonymous SNV S512R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334705 chr1 94335414 94335414 C T rs571953932 DNTTIP2 Nonsynonymous SNV R755H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 334706 chr1 9804566 9804566 G A rs564647610 CLSTN1 Nonsynonymous SNV P364L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334707 chr20 42198038 42198038 T C SGK2 Nonsynonymous SNV M141T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 334708 chr20 60511942 60511942 G A rs547443072 CDH4 Nonsynonymous SNV D861N 0 0 0.003 0 0 0 0 1 0 0 0 0 31 334709 chr20 60900389 60900389 G A rs200449284 LAMA5 Nonsynonymous SNV R1838W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334710 chr20 62172695 62172697 GTC - rs373947266 SRMS D378del 0 0 0.003 0 0 0 0 1 0 0 0 0 334711 chr20 62195661 62195661 C T rs376276481 HELZ2 Nonsynonymous SNV C936Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.132 334712 chr20 62338378 62338378 G A rs137883585 ARFRP1 Synonymous SNV I22I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.02 334713 chr21 31852494 31852494 G C KRTAP19-1 Nonsynonymous SNV S48C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.186 334714 chr21 34889808 34889808 T C GART Nonsynonymous SNV R604G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.76 334715 chr21 34926546 34926546 C T SON Nonsynonymous SNV S1670F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334716 chr21 45103236 45103236 C T RRP1B Synonymous SNV D291D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.584 334717 chr21 47805855 47805856 CT - PCNT S1024Hfs*51 0 0 0.003 0 0 0 0 1 0 0 0 0 334718 chr22 20100751 20100751 C G rs764162819 TRMT2A Nonsynonymous SNV S480T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.304 334719 chr22 24379487 24379487 C T rs146230318 GSTT1 Synonymous SNV T75T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 334720 chr22 30951171 30951171 G C GAL3ST1 Nonsynonymous SNV D347E 0 0 0.003 0 0 0 0 1 0 0 0 0 7.219 334721 chr22 31985518 31985518 G A rs367598903 SFI1 Nonsynonymous SNV R445H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.06 334722 chr22 41574815 41574815 C T rs748953233 EP300 Nonsynonymous SNV P2341L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 334723 chr22 42159279 42159279 T G MEI1 Nonsynonymous SNV I741S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 334724 chr22 44028082 44028082 T C rs770678886 EFCAB6 Nonsynonymous SNV Q560R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334725 chr22 45921523 45921523 G A rs199802935 FBLN1 Nonsynonymous SNV G96S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.94 334726 chr22 46658260 46658260 C T PKDREJ Synonymous SNV E320E 0 0 0.003 0 0 0 0 1 0 0 0 0 6.215 334727 chr2 120690071 120690071 A G rs143014480 PTPN4 Nonsynonymous SNV D381G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 334728 chr2 160968599 160968599 T C rs577005383 ITGB6 Nonsynonymous SNV N603S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334729 chr2 162565341 162565341 T C rs533392244 SLC4A10 0 0 0.003 0 0 0 0 1 0 0 0 0 16.48 334730 chr2 166731302 166731302 T C rs147540469 TTC21B Nonsynonymous SNV D1305G 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 334731 chr2 175618252 175618252 A C rs137852805 CHRNA1 Nonsynonymous SNV F253V 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 28.5 334732 chr2 183593380 183593380 C T rs1030073105 DNAJC10 Nonsynonymous SNV P166S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334733 chr2 218679705 218679705 C T rs200055507 TNS1 Synonymous SNV T1428T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.75 334734 chr2 220353940 220353940 C G rs147228436 SPEG Nonsynonymous SNV Q2772E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 334735 chr2 227661779 227661779 G A rs1049154616 IRS1 Nonsynonymous SNV P559L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 334736 chr2 240323801 240323801 A T rs149903621 HDAC4-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 334737 chr2 242203875 242203875 A G HDLBP Synonymous SNV S74S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.07 334738 chr2 242684207 242684207 C T rs377034676 D2HGDH Synonymous SNV I122I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.67 334739 chr2 27456350 27456350 C T rs137930730 CAD Synonymous SNV L991L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 14.49 334740 chr2 27680548 27680548 C T rs143922405 IFT172 Synonymous SNV V1062V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 12.66 334741 chr2 31611123 31611123 A G rs762679791 XDH Synonymous SNV N178N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.066 334742 chr2 43819469 43819469 A G THADA Synonymous SNV L21L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.678 334743 chr2 71791260 71791260 C T rs146819460 DYSF Nonsynonymous SNV P796S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 31 334744 chr3 124748159 124748159 C T rs199818051 HEG1 Nonsynonymous SNV A164T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 334745 chr3 140785022 140785022 C T rs750533764 SPSB4 Synonymous SNV L26L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.841 334746 chr3 142123805 142123805 A G rs776087125 XRN1 Synonymous SNV F609F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 334747 chr3 148789201 148789201 T C HLTF Synonymous SNV Q244Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.509 334748 chr3 183097166 183097166 G A rs200353022 MCF2L2 Nonsynonymous SNV T65M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 334749 chr3 194081619 194081619 G A LRRC15 Nonsynonymous SNV P52S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 334750 chr3 196199275 196199275 C T rs766155334 RNF168 Synonymous SNV S377S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.45 334751 chr3 27463142 27463142 T C SLC4A7 Synonymous SNV T337T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.752 334752 chr3 27758753 27758753 A G rs752315220 EOMES Synonymous SNV P642P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.872 334753 chr3 40465415 40465416 CA - rs752226249 ENTPD3 T439Rfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 334754 chr3 44882604 44882604 A C KIF15 Synonymous SNV A1153A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.771 334755 chr3 48207350 48207350 G C CDC25A Nonsynonymous SNV Q315E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334756 chr3 48678897 48678897 G C rs201895118 CELSR3 Nonsynonymous SNV P2962R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.1 334757 chr3 51969657 51969657 G A rs140029162 RRP9 Nonsynonymous SNV R263C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334758 chr3 58154223 58154223 G A rs202143851 FLNB Nonsynonymous SNV V2395I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.3 334759 chr4 1164196 1164196 C T rs746452833 SPON2 Nonsynonymous SNV A269T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 334760 chr4 125591997 125591997 C T rs562598388 ANKRD50 Nonsynonymous SNV S633N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.71 334761 chr4 159174614 159174614 T C TMEM144 Synonymous SNV L325L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.208 334762 chr4 187525601 187525601 G A rs200357548 FAT1 Nonsynonymous SNV P3493L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.68 334763 chr4 20714519 20714519 C G PACRGL Nonsynonymous SNV L106V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 334764 chr4 48496219 48496219 C T ZAR1 Synonymous SNV R411R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.559 334765 chr4 53494191 53494191 C T USP46 Nonsynonymous SNV S79N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.38 334766 chr5 113698910 113698910 C T rs746024957 KCNN2 Synonymous SNV I358I 0 0 0.003 0 0 0 0 1 0 0 0 0 16.92 334767 chr5 138652789 138652789 A C rs780647891 MATR3 Synonymous SNV R105R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.941 334768 chr5 139232033 139232033 - TGTGGC rs776043731 NRG2 T443_P444insAT 0 0 0.003 0 0 0 0 1 0 0 0 0 334769 chr5 172381864 172381864 G A rs772589794 LOC100268168 0 0 0.003 0 0 0 0 1 0 0 0 0 4.114 334770 chr5 172585795 172585795 C T rs142359158 BNIP1 Synonymous SNV I106I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.68 334771 chr5 172590789 172590789 C A rs148974577 BNIP1 Synonymous SNV I150I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.69 334772 chr5 177547300 177547300 C T rs539560362 N4BP3 Nonsynonymous SNV T151M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 334773 chr5 178154059 178154059 G T rs538487856 ZNF354A Nonsynonymous SNV S34Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 334774 chr5 180055896 180055896 C T rs201974792 FLT4 Synonymous SNV P363P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.66 334775 chr5 38959337 38959337 G C rs61753520 RICTOR Nonsynonymous SNV A713G 0 0 0.003 0 0 0 0 1 0 0 0 0 29 334776 chr5 40834680 40834680 C T RPL37 Nonsynonymous SNV R11H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334777 chr5 90445862 90445862 A C ADGRV1 Nonsynonymous SNV M6150L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334778 chr5 93722024 93722024 C T KIAA0825 Nonsynonymous SNV S1181N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 334779 chr5 94803593 94803593 T C rs374027697 TTC37 Nonsynonymous SNV K1533E 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 334780 chr5 96011305 96011305 G C rs535717874 CAST Nonsynonymous SNV E46D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334781 chr5 9629906 9629906 G A rs370954622 TAS2R1 Nonsynonymous SNV A80V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334782 chr6 109294663 109294663 C T rs199687592 ARMC2 Synonymous SNV N685N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 334783 chr6 129762010 129762010 C T rs756599307 LAMA2 Synonymous SNV N2045N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.06 334784 chr6 131520698 131520698 G A rs756591485 AKAP7 Synonymous SNV P229P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.547 334785 chr6 134436412 134436412 G A rs866490615 HMGA1P7 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 334786 chr6 145119064 145119064 G A rs549972159 UTRN Synonymous SNV A3061A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 334787 chr6 146207694 146207694 G T LOC100507557 0 0 0.003 0 0 0 0 1 0 0 0 0 1.586 334788 chr6 151738476 151738476 C T RMND1 Nonsynonymous SNV E210K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334789 chr6 152651657 152651657 G A rs3734366 SYNE1 Synonymous SNV D4650D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.007 334790 chr6 153296133 153296133 A G rs138580404 FBXO5 Nonsynonymous SNV C197R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.382 334791 chr6 159139206 159139206 G A SYTL3 Nonsynonymous SNV R22Q 0 0 0.003 0 0 0 0 1 0 0 0 0 33 334792 chr6 168479739 168479739 G A rs142478026 FRMD1 Synonymous SNV P12P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.054 334793 chr6 170632250 170632250 C T rs752163725 FAM120B Synonymous SNV T618T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.31 334794 chr6 25092215 25092215 T C rs61734336 CMAHP 0 0 0.003 0 0 0 0 1 0 0 0 0 13.28 334795 chr6 56482783 56482783 - CT rs772013916 DST 0 0 0.003 0 0 0 0 1 0 0 0 0 334796 chr6 7580553 7580553 T A DSP Nonsynonymous SNV I1377N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 334797 chr6 76124617 76124617 G A rs747127134 FILIP1 Synonymous SNV I24I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.261 334798 chr6 79595101 79595101 A C rs756196420 IRAK1BP1 Nonsynonymous SNV N108H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 334799 chr6 83074855 83074855 G A rs761235105 TPBG Synonymous SNV P59P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.668 334800 chr6 97247529 97247529 T C rs778979692 GPR63 Nonsynonymous SNV M27V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334801 chr7 144345965 144345965 G A TPK1 Nonsynonymous SNV P60S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 334802 chr7 149576674 149576674 C T ATP6V0E2 Nonsynonymous SNV P184S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.056 334803 chr7 154760190 154760190 G T PAXIP1 Nonsynonymous SNV P574Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.538 334804 chr7 20198911 20198911 G A rs770118195 MACC1 Nonsynonymous SNV P358L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 334805 chr7 29186333 29186333 A G CHN2 Nonsynonymous SNV N45S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 334806 chr7 30537407 30537407 T C rs540053508 GGCT Synonymous SNV L131L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.407 334807 chr7 36460325 36460325 G A rs1030281687 ANLN Nonsynonymous SNV C675Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 334808 chr7 43918008 43918008 T C rs760218168 URGCP Nonsynonymous SNV T343A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.871 334809 chr7 82584173 82584173 G T rs766588221 PCLO Nonsynonymous SNV S2032R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 334810 chr8 120430298 120430298 C T rs199506335 CCN3 Nonsynonymous SNV A104V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.2 334811 chr8 126056252 126056252 G A rs367744328 WASHC5 Nonsynonymous SNV P770S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 334812 chr8 134052341 134052341 C T rs114984671 SLA Synonymous SNV T146T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.1 334813 chr8 55542255 55542255 G A rs145801713 RP1 Nonsynonymous SNV R1938H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 334814 chr8 67066544 67066544 C T rs184182614 TRIM55 Nonsynonymous SNV T500I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 334815 chr9 105405466 105405466 C T rs113813598 LINC00587 0 0 0.003 0 0 0 0 1 0 0 0 0 8.67 334816 chr9 131217494 131217494 C T rs149189122 ODF2 Nonsynonymous SNV P7S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.421 334817 chr9 136276126 136276126 G A rs782490309 REXO4 Synonymous SNV H154H 0 0 0.003 0 0 0 0 1 0 0 0 0 3.417 334818 chr9 139726734 139726734 A G rs758981463 RABL6 Nonsynonymous SNV Y207C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 334819 chr9 140007491 140007491 C T rs373456341 DPP7 Nonsynonymous SNV A262T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.07 334820 chr9 140120257 140120257 G A rs531075325 CYSRT1 Nonsynonymous SNV E62K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 334821 chr9 140611328 140611328 C G rs757250849 EHMT1 Nonsynonymous SNV D81E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.69 334822 chr9 18817125 18817125 C T rs376137552 ADAMTSL1 Nonsynonymous SNV T1275M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 334823 chr9 2039776 2039776 - CAGCAGCAGCAGCAGCAGCAG SMARCA2 Q238_P239insQQQQQQQ 0 0 0.003 0 0 0 0 1 0 0 0 0 334824 chr9 32430510 32430510 C T ACO1 Nonsynonymous SNV P555L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 334825 chr9 414794 414794 A G rs753242273 DOCK8 Synonymous SNV V1081V 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.789 334826 chr9 6413625 6413625 C T rs573040314 UHRF2 Synonymous SNV L45L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 334827 chr9 79974314 79974314 A G rs149959044 VPS13A Nonsynonymous SNV I2662V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 334828 chr9 88292394 88292394 T C rs61447666 AGTPBP1 Synonymous SNV L183L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.696 334829 chr10 104159464 104159464 G A rs936721485 NFKB2 Synonymous SNV E486E 0 0 0.003 0 0 0 0 1 0 0 0 0 14.81 334830 chr10 106214247 106214247 G A rs750426638 CFAP58 Nonsynonymous SNV G860R 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 334831 chr10 116075456 116075456 C T rs143236926 AFAP1L2 Nonsynonymous SNV A159T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.963 334832 chr10 118228724 118228724 G A rs141110905 PNLIPRP3 Nonsynonymous SNV G319S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 334833 chr10 120354701 120354701 G A rs139960558 PRLHR Nonsynonymous SNV P19L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 334834 chr10 13234328 13234328 G A rs141376818 MCM10 Synonymous SNV R530R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.99 334835 chr10 135015241 135015241 G A rs760843915 KNDC1 Nonsynonymous SNV G1076S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.067 334836 chr10 72061131 72061131 G A rs776696097 LRRC20 Synonymous SNV G128G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.831 334837 chr10 72299480 72299480 C T rs142187016 PALD1 Nonsynonymous SNV R624C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334838 chr10 7749181 7749181 A C rs772510811 ITIH2 Nonsynonymous SNV E59D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.649 334839 chr10 86273285 86273285 C T rs144603743 CCSER2 Stop gain R258X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 334840 chr10 95335898 95335898 G A rs545539198 FFAR4 Synonymous SNV S206S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.2 334841 chr10 98790557 98790557 G T SLIT1 Nonsynonymous SNV L847I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334842 chr11 1018156 1018156 G T MUC6 Nonsynonymous SNV P1549T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334843 chr11 11906050 11906050 G A rs34511735 USP47 Nonsynonymous SNV D26N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 334844 chr11 15098932 15098932 G A rs768562060 CALCB Nonsynonymous SNV V109M 0 0 0.003 0 0 0 0 1 0 0 0 0 24 334845 chr11 18111980 18111980 C T rs775947574 SAAL1 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 334846 chr11 18955440 18955440 C T rs750380482 MRGPRX1 Nonsynonymous SNV A298T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.698 334847 chr11 33763593 33763595 TCT - rs746337901 FBXO3 E433del 0 0 0.003 0 0 0 0 1 0 0 0 0 334848 chr11 43913641 43913641 T C rs768997072 ALKBH3 Nonsynonymous SNV Y141H 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 334849 chr11 4904034 4904034 G A rs151076376 OR51T1 Nonsynonymous SNV R302H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 334850 chr11 58919879 58919879 T C rs144151093 FAM111A Synonymous SNV N246N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.04 334851 chr11 60704782 60704782 G A rs199844407 SLC15A3 Nonsynonymous SNV T552M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 334852 chr11 64360940 64360940 T C rs200340948 SLC22A12 Synonymous SNV A190A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.012 334853 chr11 64897413 64897413 G T rs748918223 MIR6751 0 0 0.003 0 0 0 0 1 0 0 0 0 7.223 334854 chr11 68204421 68204421 C T rs770762272 LRP5 Synonymous SNV C774C 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 17.9 334855 chr11 69625427 69625427 G A FGF3 Synonymous SNV H122H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 334856 chr11 71726381 71726381 C T rs372250812 NUMA1 Nonsynonymous SNV R723H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 334857 chr12 109687885 109687885 C T rs762520393 ACACB Synonymous SNV Y1922Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 334858 chr12 113871950 113871950 G A rs116784032 SDSL Synonymous SNV E122E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.194 334859 chr12 114841649 114841649 C A rs200461617 TBX5 Nonsynonymous SNV A19S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 5.373 334860 chr12 12509921 12509921 T C rs781269705 LOH12CR2 0 0 0.003 0 0 0 0 1 0 0 0 0 8.44 334861 chr12 132681694 132681694 C G GALNT9 Nonsynonymous SNV Q224H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 334862 chr12 22631254 22631254 T C rs150841468 C2CD5 Nonsynonymous SNV N632S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 334863 chr12 32490665 32490665 G A rs142080852 BICD1 Nonsynonymous SNV V829M 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334864 chr12 3757731 3757731 G A rs374515541 CRACR2A Synonymous SNV L365L 0 0 0.003 0 0 0 0 1 0 0 0 0 12 334865 chr12 48491784 48491784 T G rs764539310 SENP1 Nonsynonymous SNV D43A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 334866 chr12 52908926 52908949 CAAGACCTCCACCGAGGCCGCCGC - rs577328983 KRT5 G517_L524del 0 0 0.003 0 0 0 0 1 0 0 0 0 334867 chr12 53002138 53002138 C T rs749189326 KRT73 Nonsynonymous SNV G489R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 334868 chr12 53594207 53594207 G T ITGB7 Synonymous SNV V7V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.051 334869 chr12 55641799 55641799 T C OR6C74 Nonsynonymous SNV M243T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 334870 chr12 56531345 56531345 G A ESYT1 Synonymous SNV G677G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 334871 chr12 58016875 58016875 G A rs144040405 SLC26A10 Synonymous SNV T336T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 334872 chr12 58016876 58016876 C G rs766212253 SLC26A10 Nonsynonymous SNV L337V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 334873 chr12 68726019 68726019 C A MDM1 Nonsynonymous SNV V3L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 334874 chr12 94562987 94562987 C T rs536958341 PLXNC1 Nonsynonymous SNV S374F 0 0 0.003 0 0 0 0 1 0 0 0 0 31 334875 chr12 96260958 96260958 G A rs772847987 CCDC38 Stop gain R530X 0 0 0.003 0 0 0 0 1 0 0 0 0 43 334876 chr13 101184606 101184606 G C GGACT Nonsynonymous SNV D80E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.28 334877 chr13 21732265 21732265 - AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAG rs753244984 SKA3 0 0 0.003 0 0 0 0 1 0 0 0 0 334878 chr13 33320238 33320238 C T rs199768125 PDS5B Synonymous SNV N912N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.87 334879 chr13 35731293 35731293 G T NBEA Nonsynonymous SNV Q910H 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 334880 chr13 52548211 52548211 G C rs774102085 ATP7B Nonsynonymous SNV S382C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25 334881 chr13 52549031 52549031 G A rs751920801 ATP7B Synonymous SNV L109L 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.828 334882 chr13 66878917 66878917 C T rs199877381 PCDH9 Nonsynonymous SNV R1119H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 334883 chr13 76301192 76301192 C T rs752695160 LMO7 Synonymous SNV V56V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.42 334884 chr14 102482239 102482239 A G DYNC1H1 Nonsynonymous SNV N2430S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 334885 chr14 24800523 24800523 G C rs143756412 ADCY4 Nonsynonymous SNV R237G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334886 chr14 31782177 31782177 C T rs373674090 HEATR5A Nonsynonymous SNV E1480K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 334887 chr14 36623057 36623057 C T rs79555779 PTCSC3 0 0 0.003 0 0 0 0 1 0 0 0 0 4.57 334888 chr14 36784095 36784095 C T rs113771477 MBIP Synonymous SNV P92P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.182 334889 chr14 38275689 38275689 A G TTC6 Nonsynonymous SNV I1446V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.74 334890 chr14 57103302 57103302 G A rs144236163 TMEM260 Nonsynonymous SNV A619T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.09 334891 chr14 69993434 69993434 G A rs148613530 PLEKHD1 Nonsynonymous SNV R315H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334892 chr14 89181444 89181444 T C rs756371698 EML5 Nonsynonymous SNV N428S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 334893 chr15 101816868 101816868 A G rs537723164 SELENOS Nonsynonymous SNV L30P 0 0 0.003 0 0 0 0 1 0 0 0 0 31 334894 chr15 42438354 42438354 C T rs144626679 PLA2G4F Nonsynonymous SNV R502H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.21 334895 chr15 44898251 44898251 C A SPG11 Nonsynonymous SNV W1164C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334896 chr15 49422950 49422950 G A rs1026389244 COPS2 Synonymous SNV I344I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 334897 chr15 58465354 58465354 A C AQP9 Nonsynonymous SNV Q109P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 334898 chr15 63981884 63981884 T C rs74021320 HERC1 Synonymous SNV L1984L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.382 334899 chr15 64039180 64039180 T C rs61745864 HERC1 Synonymous SNV A819A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 7.745 334900 chr15 65490038 65490038 C T rs28453779 CILP Synonymous SNV T862T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.886 334901 chr15 81188243 81188243 A G rs758338201 CEMIP Nonsynonymous SNV N418S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.814 334902 chr15 91150636 91150636 C T rs752742246 CRTC3 Nonsynonymous SNV T168M 0 0 0.003 0 0 0 0 1 0 0 0 0 31 334903 chr15 98286655 98286655 G T rs754594585 LINC00923 0 0 0.003 0 0 0 0 1 0 0 0 0 1.192 334904 chr16 1486042 1486042 T C rs1001763706 CCDC154 Synonymous SNV L511L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.232 334905 chr16 1488638 1488638 A G rs775572308 CCDC154 Nonsynonymous SNV L336P 0 0 0.003 0 0 0 0 1 0 0 0 0 19.22 334906 chr16 1493910 1493910 G A CCDC154 Synonymous SNV P37P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.421 334907 chr16 1538818 1538818 C T PTX4 Synonymous SNV V31V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.425 334908 chr16 24804871 24804871 A G rs145932356 TNRC6A Nonsynonymous SNV I1085V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.752 334909 chr16 2983555 2983555 C T rs750273321 FLYWCH1 Synonymous SNV D407D 0 0 0.003 0 0 0 0 1 0 0 0 0 9.881 334910 chr16 30666396 30666396 A C rs377479590 PRR14 Nonsynonymous SNV M369L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.794 334911 chr16 30991180 30991180 G C rs749924352 SETD1A Nonsynonymous SNV R1358P 0 0 0.003 0 0 0 0 1 0 0 0 0 5.399 334912 chr16 57415943 57415943 T C CX3CL1 Synonymous SNV L65L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.921 334913 chr16 67005135 67005135 G A rs140768170 CES3 Nonsynonymous SNV A41T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 334914 chr16 67763650 67763650 G A rs753260975 RANBP10 Synonymous SNV D243D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.244 334915 chr16 70316604 70316604 G T rs773045737 AARS Nonsynonymous SNV N21K 0 0 0.003 0 0 0 0 1 0 0 0 0 6.125 334916 chr16 85144027 85144027 G A FAM92B Synonymous SNV N20N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 334917 chr16 89805074 89805074 C T rs74977201 FANCA Nonsynonymous SNV A1435T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 24.8 334918 chr16 89985883 89985883 A G rs371458749 MC1R Nonsynonymous SNV M73V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334919 chr17 10632377 10632377 C T TMEM220 Nonsynonymous SNV V25I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.974 334920 chr17 1399658 1399658 G A rs148962273 INPP5K Synonymous SNV A380A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.415 334921 chr17 17068391 17068391 G T rs566820926 MPRIP Synonymous SNV L1194L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.523 334922 chr17 18051838 18051838 C G rs367799231 MYO15A Synonymous SNV S2240S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.9 334923 chr17 27209425 27209425 G A rs138029483 FLOT2 Nonsynonymous SNV T170M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 334924 chr17 33904529 33904529 G A PEX12 Nonsynonymous SNV L70F 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 334925 chr17 35944801 35944801 C T rs148948026 SYNRG Nonsynonymous SNV D182N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 334926 chr17 38859391 38859391 G A rs151230169 KRT24 Synonymous SNV D185D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 334927 chr17 40651060 40651060 T C rs149805487 ATP6V0A1 Nonsynonymous SNV I567T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.658 334928 chr17 40947752 40947752 T - rs761124764 WNK4 S709Qfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 334929 chr17 40996747 40996747 C T rs772504327 AOC2 Nonsynonymous SNV P35L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.81 334930 chr17 4536600 4536600 G A rs764267253 ALOX15 Nonsynonymous SNV T420I 0 0 0.003 0 0 0 0 1 0 0 0 0 24 334931 chr17 61898275 61898275 C T rs200615117 FTSJ3 Nonsynonymous SNV E666K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 334932 chr17 65908050 65908050 G A rs772759476 BPTF Synonymous SNV P1350P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.117 334933 chr17 6716320 6716320 C G rs150419358 TEKT1 Nonsynonymous SNV A228P 0 0 0.003 0 0 0 0 1 0 0 0 0 30 334934 chr17 7210383 7210383 G A rs77450485 EIF5A Synonymous SNV G6G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.104 334935 chr17 7296248 7296248 G A rs764090024 PLSCR3 Synonymous SNV G8G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.948 334936 chr17 73498368 73498368 C T rs372321261 CASKIN2 Synonymous SNV T847T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.566 334937 chr17 77709099 77709099 G A rs141147522 ENPP7 Synonymous SNV V219V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 334938 chr17 77709256 77709256 G A rs137880916 ENPP7 Nonsynonymous SNV D272N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 334939 chr17 78360532 78360532 C T rs142018990 RNF213 Synonymous SNV I4921I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 334940 chr17 79226058 79226058 C T rs780284908 SLC38A10 Nonsynonymous SNV G628R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.97 334941 chr17 79573741 79573741 C A NPLOC4 Synonymous SNV P210P 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 334942 chr18 22806533 22806533 T C rs138606013 ZNF521 Nonsynonymous SNV Y230C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 334943 chr18 24126710 24126710 A G rs569158282 KCTD1 Synonymous SNV A597A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 334944 chr18 43523213 43523213 T A rs543352996 EPG5 Synonymous SNV S619S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.324 334945 chr18 52586519 52586519 G A rs771391383 CCDC68 Nonsynonymous SNV R258C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 334946 chr18 60217662 60217662 C T rs376826033 ZCCHC2 Nonsynonymous SNV R428W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 334947 chr19 10250938 10250938 T A DNMT1 Nonsynonymous SNV N1181I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 334948 chr19 16790856 16790856 C T TMEM38A Synonymous SNV C62C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.937 334949 chr19 19391027 19391027 G A rs375092440 SUGP1 Synonymous SNV D439D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.392 334950 chr19 3193296 3193296 C T rs76704462 NCLN Synonymous SNV I130I 0 0 0.003 0 0 0 0 1 0 0 0 0 18.19 334951 chr19 3207398 3207398 G A rs76473246 NCLN Synonymous SNV P520P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.55 334952 chr19 34263192 34263192 T C rs201254683 CHST8 Nonsynonymous SNV Y167H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.4 334953 chr19 39114792 39114792 G A rs779676297 EIF3K Synonymous SNV P78P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.491 334954 chr19 42314005 42314005 C A rs782307972 CEACAM3 Nonsynonymous SNV T182N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.18 334955 chr19 44118012 44118012 A C rs371417784 SRRM5 Nonsynonymous SNV E580A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334956 chr19 44635495 44635495 G A rs189754665 ZNF225 Nonsynonymous SNV R243H 0 0 0.003 0 0 0 0 1 0 0 0 0 23 334957 chr19 4494016 4494016 G A HDGFL2 Synonymous SNV P292P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 334958 chr19 46264988 46264988 C G rs536926335 BHMG1 Nonsynonymous SNV R433G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.993 334959 chr19 49674841 49674841 G A rs770369257 TRPM4 Nonsynonymous SNV E6K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.24 334960 chr19 50917093 50917093 T C rs1060501846 POLD1 Nonsynonymous SNV V808A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.5 334961 chr19 6682034 6682034 T C rs984274936 C3 Nonsynonymous SNV N1423S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 334962 chr19 8151974 8151974 C G rs771197064 FBN3 Synonymous SNV G2247G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.585 334963 chr19 9049973 9049973 A C rs375875694 MUC16 Nonsynonymous SNV L10553R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.918 334964 chr19 9062907 9062907 G A MUC16 Nonsynonymous SNV T8180I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 334965 chr19 9204228 9204228 T G rs543820916 OR1M1 Nonsynonymous SNV F103C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 334966 chr19 9641696 9641696 A T rs372011644 ZNF426 Nonsynonymous SNV F87I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 334967 chr1 109538378 109538378 A G rs767490571 WDR47 Synonymous SNV N513N 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 334968 chr1 116206411 116206411 G T VANGL1 Nonsynonymous SNV G110C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 334969 chr1 11855183 11855183 G A rs748289202 MTHFR Nonsynonymous SNV R376C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 334970 chr1 152975621 152975621 A C SPRR3 Nonsynonymous SNV H42P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.844 334971 chr1 153747985 153747996 CCTGCTGCTGCC - rs143599353 SLC27A3 P8_L11del 0 0 0.003 0 0 0 0 1 0 0 0 0 334972 chr1 158648210 158648210 T C rs183647059 SPTA1 Nonsynonymous SNV N265D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.88 334973 chr1 158648324 158648324 C T rs199598260 SPTA1 Nonsynonymous SNV E227K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 17.94 334974 chr1 158687453 158687453 G A rs143743884 OR6K3 Synonymous SNV F151F 0 0 0.003 0 0 0 0 1 0 0 0 0 4.416 334975 chr1 158724692 158724692 G T rs138864853 OR6K6 Synonymous SNV T29T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.098 334976 chr1 160011635 160011635 G A rs149615470 KCNJ10 Nonsynonymous SNV R230W 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.2 334977 chr1 160650922 160650922 C T rs745582708 CD48 Nonsynonymous SNV G241E 0 0 0.003 0 0 0 0 1 0 0 0 0 4.629 334978 chr1 169437439 169437439 A G rs917473133 SLC19A2 Synonymous SNV G224G 0 0 0.003 0 0 0 0 1 0 0 0 0 4.778 334979 chr1 172501695 172501695 G C rs189134304 SUCO Nonsynonymous SNV G28A 0 0 0.003 0 0 0 0 1 0 0 0 0 5.183 334980 chr1 19934599 19934599 C T rs753254436 RPS14P3 0 0 0.003 0 0 0 0 1 0 0 0 0 0.053 334981 chr1 201174329 201174329 C T rs540024608 IGFN1 Nonsynonymous SNV R346W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 334982 chr1 202956345 202956345 G A LOC100506747 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 334983 chr1 204409407 204409407 T C PIK3C2B Nonsynonymous SNV I1098V 0 0 0.003 0 0 0 0 1 0 0 0 0 24 334984 chr1 206225100 206225100 C A AVPR1B Nonsynonymous SNV S220R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.8 334985 chr1 216420104 216420104 G A rs867113130 USH2A Nonsynonymous SNV R878C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 334986 chr1 248098051 248098051 A G rs141926555 OR2AJ1 Synonymous SNV L328L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.282 334987 chr1 248525493 248525493 G A rs753722891 OR2T4 Nonsynonymous SNV R204Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.84 334988 chr1 38289400 38289400 C T rs185711329 MTF1 Nonsynonymous SNV E385K 0 0 0.003 0 0 0 0 1 0 0 0 0 26 334989 chr1 38339756 38339756 G C rs201669484 INPP5B Synonymous SNV P456P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.763 334990 chr1 42654585 42654585 T C FOXJ3 Nonsynonymous SNV M456V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 334991 chr1 55273671 55273671 G A LEXM Nonsynonymous SNV R156Q 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 334992 chr1 77748060 77748060 T A AK5 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 334993 chr1 86822243 86822243 C G ODF2L Nonsynonymous SNV V308L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.499 334994 chr1 9307129 9307129 C T rs118005430 H6PD Synonymous SNV T255T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.78 334995 chr20 34797539 34797539 G A EPB41L1 Nonsynonymous SNV A526T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 334996 chr21 19687494 19687494 G C rs747558341 TMPRSS15 Nonsynonymous SNV H667Q 0 0 0.003 0 0 0 0 1 0 0 0 0 5.902 334997 chr21 45564748 45564748 T G rs144882095 GATD3A, GATD3B Nonsynonymous SNV F211V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 334998 chr22 29935389 29935389 C T rs1044210858 THOC5 Nonsynonymous SNV E177K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 334999 chr22 31320999 31320999 G T rs147240494 MORC2-AS1 0 0 0.007 0 0 0 0 2 0 0 0 0 10.56 335000 chr22 31521814 31521814 C A rs745702174 INPP5J Synonymous SNV P363P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.8 335001 chr22 37890169 37890169 C T CARD10 Synonymous SNV L800L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.76 335002 chr22 41077500 41077500 G A MCHR1 Synonymous SNV L279L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.026 335003 chr22 41077618 41077618 C T rs549253450 MCHR1 Nonsynonymous SNV R319W 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 335004 chr22 43570589 43570589 C G rs970239388 TTLL12 Nonsynonymous SNV S317T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.687 335005 chr22 44364652 44364652 T C rs202197231 SAMM50 Synonymous SNV R92R 0 0 0.003 0 0 0 0 1 0 0 0 0 5.762 335006 chr22 46653171 46653171 G A rs199621516 PKDREJ Nonsynonymous SNV L2017F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.983 335007 chr2 112922599 112922599 C A rs146083639 FBLN7 Nonsynonymous SNV T86N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335008 chr2 114020968 114020968 T C PAX8-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.978 335009 chr2 1371190 1371190 G A SNTG2 Nonsynonymous SNV D522N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 335010 chr2 141259268 141259268 C T rs747529478 LRP1B Synonymous SNV P2946P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.23 335011 chr2 149221365 149221365 G A rs770801894 MBD5 Nonsynonymous SNV A92T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.2 335012 chr2 152410411 152410411 G A rs371785128 NEB Synonymous SNV H4818H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.12 335013 chr2 1544411 1544411 C T rs753589249 TPO Synonymous SNV G844G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 335014 chr2 165548807 165548807 C T rs545559731 COBLL1 Nonsynonymous SNV S1075N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 335015 chr2 183703257 183703257 G A rs371741810 FRZB Nonsynonymous SNV S226F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335016 chr2 187532447 187532447 A G ITGAV Nonsynonymous SNV K757E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 335017 chr2 219259479 219259479 G C SLC11A1 Nonsynonymous SNV A505P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 335018 chr2 220099942 220099942 C T rs542260959 ANKZF1 Synonymous SNV S323S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.58 335019 chr2 233208146 233208146 G A rs779403107 DIS3L2 Nonsynonymous SNV R558H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 335020 chr2 241898749 241898749 A G CROCC2 Nonsynonymous SNV K992R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.188 335021 chr2 242484136 242484136 C A BOK-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.544 335022 chr2 242758128 242758128 G T rs181377602 NEU4 Synonymous SNV P416P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.217 335023 chr2 44071712 44071712 C A rs770421664 ABCG8 Nonsynonymous SNV P44T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.46 335024 chr2 73316125 73316125 G A rs371020386 RAB11FIP5 Synonymous SNV T250T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.271 335025 chr3 111603598 111603598 G A rs200941711 PHLDB2 Nonsynonymous SNV R225K 0 0 0.003 0 0 0 0 1 0 0 0 0 5.321 335026 chr3 112997525 112997525 C T BOC Nonsynonymous SNV R571W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 335027 chr3 122564618 122564618 G A rs147781467 SLC49A4 Nonsynonymous SNV R281Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335028 chr3 12544841 12544841 A C rs142211875 TSEN2 Nonsynonymous SNV K130T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.473 335029 chr3 130377582 130377582 A G COL6A6 Synonymous SNV A1932A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.471 335030 chr3 133109060 133109060 A G rs376771566 TMEM108 Nonsynonymous SNV K26R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 335031 chr3 13677946 13677946 C T rs2290189 FBLN2 Synonymous SNV D1025D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 335032 chr3 138351782 138351782 T G FAIM Nonsynonymous SNV V134G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 335033 chr3 147114054 147114054 A G rs764197196 ZIC4 Synonymous SNV A141A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.018 335034 chr3 15084430 15084430 A G rs148719288 NR2C2 Nonsynonymous SNV N569S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.17 335035 chr3 155571643 155571643 G C rs764692065 SLC33A1 Nonsynonymous SNV D48E 0 0 0.003 0 0 0 0 1 0 0 0 0 12.53 335036 chr3 184157364 184157364 G A rs114009830 LINC02054 0 0 0.003 0 0 0 0 1 0 0 0 0 0.868 335037 chr3 184295589 184295589 G A EPHB3 Synonymous SNV E541E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.198 335038 chr3 195517594 195517594 G C rs753081419 MUC4 Nonsynonymous SNV T286S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 335039 chr3 195605938 195605938 G A rs368042289 TNK2 Synonymous SNV I356I 0 0 0.003 0 0 0 0 1 0 0 0 0 12.73 335040 chr3 196613029 196613029 G C rs143180579 SENP5 Nonsynonymous SNV C326S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.873 335041 chr3 197665492 197665492 C T IQCG Nonsynonymous SNV D148N 0 0 0.003 0 0 0 0 1 0 0 0 0 18.03 335042 chr3 24003541 24003541 C A rs367983289 NR1D2 Synonymous SNV T122T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.64 335043 chr3 37550072 37550072 G C ITGA9 Nonsynonymous SNV R284P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 335044 chr3 38545137 38545137 A G rs369327477 EXOG Nonsynonymous SNV N112S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 335045 chr3 43743774 43743774 G C rs200927822 ABHD5 Nonsynonymous SNV K67N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.41 335046 chr3 51352553 51352553 C G DOCK3 Nonsynonymous SNV F1132L 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 335047 chr3 51743411 51743411 G A rs142637496 GRM2 Nonsynonymous SNV G138S 0 0 0.003 0 0 0 0 1 0 0 0 0 28 335048 chr3 5244835 5244835 G A EDEM1 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 335049 chr4 13548846 13548846 G T rs534676516 LINC01096 0 0 0.003 0 0 0 0 1 0 0 0 0 7.155 335050 chr4 145580075 145580075 T C rs766035927 HHIP Synonymous SNV Y202Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 335051 chr4 147215135 147215135 G C rs745364415 SLC10A7 Nonsynonymous SNV S210C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335052 chr4 151199042 151199042 C T rs781586380 LRBA Nonsynonymous SNV A2810T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 335053 chr4 159076944 159076944 G A rs115069542 GASK1B Nonsynonymous SNV A315V 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 335054 chr4 25673239 25673239 C T rs780459503 SLC34A2 Nonsynonymous SNV T314I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 335055 chr4 37848578 37848578 A G rs187076049 PGM2 Nonsynonymous SNV N345S 0 0 0.003 0 0 0 0 1 0 0 0 0 27 335056 chr4 57891057 57891057 G A rs1029896245 POLR2B Synonymous SNV S915S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 335057 chr4 62679568 62679568 A G ADGRL3 Nonsynonymous SNV I408V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.91 335058 chr4 71507780 71507780 C T rs369065889 ENAM Nonsynonymous SNV P213S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 335059 chr4 88278465 88278465 C T HSD17B11 Nonsynonymous SNV V221I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.711 335060 chr4 89410380 89410380 G T rs376568622 HERC5 Nonsynonymous SNV A676S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 335061 chr4 90170767 90170767 C G rs770982092 GPRIN3 Nonsynonymous SNV E165D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 335062 chr5 111600618 111600618 T C rs61743759 EPB41L4A Nonsynonymous SNV I177V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.06 335063 chr5 123980242 123980242 T A ZNF608 Nonsynonymous SNV K1273I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 335064 chr5 135276349 135276349 G T rs375523606 FBXL21P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 335065 chr5 137222912 137222912 C A MYOT Nonsynonymous SNV N261K 0 0 0.003 0 0 0 0 1 0 0 0 0 19.7 335066 chr5 137762938 137762938 C T rs747632574 KDM3B Synonymous SNV L1521L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.7 335067 chr5 138730345 138730345 G A PROB1 Synonymous SNV S142S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.123 335068 chr5 140725778 140725778 G A rs778626948 PCDHGA3 Synonymous SNV Q726Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.245 335069 chr5 148702236 148702236 C T AFAP1L1 Nonsynonymous SNV S556F 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335070 chr5 149825218 149825218 C T rs757486046 RPS14 Synonymous SNV S114S 0 0 0.003 0 0 0 0 1 0 0 0 0 22 335071 chr5 157073704 157073704 C T rs760251674 SOX30 Nonsynonymous SNV R443H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 335072 chr5 171523435 171523435 C T rs183967336 STK10 Nonsynonymous SNV A334T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.142 335073 chr5 171766126 171766126 G A rs73317798 SH3PXD2B Synonymous SNV V661V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.598 335074 chr5 178418550 178418550 A G rs777695214 GRM6 Synonymous SNV C244C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.692 335075 chr5 65016557 65016557 C T rs149904456 SGTB Synonymous SNV S26S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.255 335076 chr5 72469137 72469137 C T rs200375260 TMEM174 Nonsynonymous SNV P23S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335077 chr5 79028144 79028144 C A rs374881012 CMYA5 Nonsynonymous SNV P1186T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 335078 chr6 133046020 133046020 G A rs45439105 VNN3 Nonsynonymous SNV R18C 0 0 0.003 0 0 0 0 1 0 0 0 0 14.01 335079 chr6 158994519 158994519 A T rs763698259 TMEM181 Nonsynonymous SNV I163F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.6 335080 chr6 36689869 36689869 - T RAB44 Frameshift insertion G654Wfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 335081 chr6 43007930 43007930 C T rs369391720 CUL7 Nonsynonymous SNV G1504S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22.7 335082 chr6 49582478 49582478 C T rs376030876 RHAG Synonymous SNV T243T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 335083 chr6 64395427 64395427 G A rs200059706 PHF3 Nonsynonymous SNV A514T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.146 335084 chr7 100456721 100456721 C A rs767360616 SLC12A9 Synonymous SNV A162A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.29 335085 chr7 117180324 117180324 G C rs77932196 CFTR Nonsynonymous SNV R347P 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 34 335086 chr7 124404031 124404033 AGG - rs572930812 GPR37 S333del 0 0 0.003 0 0 0 0 1 0 0 0 0 335087 chr7 127015060 127015060 G A rs145817378 ZNF800 Synonymous SNV S110S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.501 335088 chr7 149489706 149489706 G A rs772440781 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 10.5 335089 chr7 38726346 38726346 G A rs116905016 FAM183BP 0 0 0.003 0 0 0 0 1 0 0 0 0 4.169 335090 chr7 3991485 3991485 C A rs61745546 SDK1 Synonymous SNV V361V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.4 335091 chr7 4259883 4259883 C T rs11978622 SDK1 Synonymous SNV I381I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 8.3 335092 chr7 6194170 6194170 C T rs367756775 USP42 Synonymous SNV A995A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 335093 chr7 64452444 64452444 C T rs768805995 ERV3-1 Nonsynonymous SNV A321T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.38 335094 chr7 72954341 72954341 G A BCL7B Nonsynonymous SNV L103F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 335095 chr7 82579523 82579523 T C PCLO Nonsynonymous SNV R3461G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.847 335096 chr7 99661506 99661506 G A rs575445564 ZSCAN21 Nonsynonymous SNV A230T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.619 335097 chr8 11058719 11058724 CGCCGC - XKR6 G42_G43del 0 0 0.003 0 0 0 0 1 0 0 0 0 335098 chr8 124232461 124232461 A G C8orf76 Nonsynonymous SNV L342P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 335099 chr8 144461244 144461244 C T rs941760356 RHPN1 Synonymous SNV A249A 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 335100 chr8 144776229 144776229 G T ZNF707 Nonsynonymous SNV W179C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 335101 chr8 144942123 144942123 C T rs72499137 EPPK1 Nonsynonymous SNV V1767M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.117 335102 chr8 17401169 17401169 C T rs139847175 SLC7A2 Synonymous SNV V107V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.4 335103 chr8 24810410 24810410 T C rs780707006 NEFL Synonymous SNV E515E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.613 335104 chr8 28214250 28214250 G A rs372816052 ZNF395 Synonymous SNV L174L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 335105 chr8 42178297 42178297 G A rs202230688 IKBKB Synonymous SNV Q539Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 3.076 335106 chr8 62588724 62588726 TTC - rs758619315 ASPH E174del 0 0 0.003 0 0 0 0 1 0 0 0 0 335107 chr8 68419101 68419101 T C rs199576384 CPA6 Nonsynonymous SNV K186R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 20.8 335108 chr8 77895590 77895590 G A rs367649632 PEX2 Synonymous SNV D275D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 11.5 335109 chr9 113538174 113538174 G A rs372013406 MUSK Nonsynonymous SNV V19M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.181 335110 chr9 115950728 115950728 G A rs773712216 FKBP15 Nonsynonymous SNV P406L 0 0 0.003 0 0 0 0 1 0 0 0 0 23 335111 chr9 117186802 117186802 C T rs745818473 WHRN Nonsynonymous SNV G59S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 335112 chr9 123751971 123751971 G A rs34362143 C5 Nonsynonymous SNV A1016V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335113 chr9 125239884 125239884 - A rs761882606 OR1J1 Frameshift insertion A108Cfs*2 0 0 0.003 0 0 0 0 1 0 0 0 0 335114 chr9 130155426 130155426 A G rs138794455 GARNL3 Nonsynonymous SNV S979G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.002 335115 chr9 139835738 139835740 GAA - rs776963435 FBXW5 F474del 0 0 0.003 0 0 0 0 1 0 0 0 0 335116 chr9 17235770 17235770 G C rs200513513 CNTLN Nonsynonymous SNV D217H 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 335117 chr9 34343366 34343366 G C rs139419109 NUDT2 Nonsynonymous SNV Q124H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.31 335118 chr9 34517412 34517412 C T rs140820295 DNAI1 Nonsynonymous SNV R654C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 35 335119 chr9 35841726 35841726 G A rs975852693 TMEM8B Nonsynonymous SNV R415H 0 0 0.003 0 0 0 0 1 0 0 0 0 17.36 335120 chr9 37733502 37733502 C A rs374356516 FRMPD1 Nonsynonymous SNV P343Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 335121 chr9 88207610 88207610 G T rs201862545 AGTPBP1 Nonsynonymous SNV F863L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 335122 chr9 97055302 97055302 C T rs141033680 ZNF169 Synonymous SNV G69G 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 335123 chrX 153049583 153049583 C T rs55688748 SRPK3 Synonymous SNV S353S 0 0 0.007 0 0 0 0 2 0 0 1 0 4.292 335124 chrX 15526561 15526561 C T rs751155900 BMX Nonsynonymous SNV R29W 0 0 0.007 0 0 0 0 2 0 0 1 0 33 335125 chr10 118220558 118220558 G A rs114674677 PNLIPRP3 Nonsynonymous SNV V216I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335126 chr10 43607573 43607573 C G rs764616982 RET Nonsynonymous SNV L263V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 5.644 335127 chr10 50960701 50960701 G A rs756747597 OGDHL Nonsynonymous SNV T97I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.62 335128 chr10 53458921 53458921 C G CSTF2T Nonsynonymous SNV R130T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 335129 chr10 5951236 5951236 C T rs545994058 FBH1 Synonymous SNV P259P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.22 335130 chr10 60558208 60558208 C T BICC1 Synonymous SNV N472N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.8 335131 chr10 70404893 70404893 G A rs765094207 TET1 Nonsynonymous SNV A803T 0 0 0.003 0 0 0 0 1 0 0 0 0 24 335132 chr10 7769748 7769748 C T rs138692753 ITIH2 Synonymous SNV S412S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.1 335133 chr10 87407077 87407077 C T rs758387782 GRID1 Nonsynonymous SNV R692Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 335134 chr11 26586741 26586741 A G rs770406943 MUC15 Nonsynonymous SNV L222P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 335135 chr11 45265686 45265686 A G SYT13 Nonsynonymous SNV S400P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.45 335136 chr11 5717680 5717680 A G rs199625192 TRIM22 Nonsynonymous SNV H73R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 335137 chr11 60637279 60637279 A G ZP1 Synonymous SNV L196L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.148 335138 chr11 65988189 65988189 T C PACS1 Nonsynonymous SNV Y376H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335139 chr11 66589126 66589126 T G rs561172015 C11orf80 Nonsynonymous SNV L285W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335140 chr11 70263159 70263159 C T rs139313464 CTTN Synonymous SNV A166A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.44 335141 chr11 73105537 73105537 C G rs765233662 RELT Synonymous SNV P268P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.233 335142 chr11 86662226 86662226 A G FZD4 Synonymous SNV N524N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.686 335143 chr12 101560474 101560474 C T rs372017110 SLC5A8 Nonsynonymous SNV A442T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.9 335144 chr12 112308891 112308891 T C rs376647661 MAPKAPK5 Synonymous SNV D162D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 335145 chr12 2958629 2958629 G A rs561590705 TEX52 Nonsynonymous SNV P229L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 335146 chr12 39047829 39047829 A G CPNE8 Nonsynonymous SNV I517T 0 0 0.007 0 0 0 0 2 0 0 0 0 13.76 335147 chr12 56554431 56554431 C T rs372692919 MYL6 Nonsynonymous SNV S150L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335148 chr12 58121457 58121457 C T rs769803173 AGAP2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.421 335149 chr12 6761897 6761897 C T rs149630308 ING4 Nonsynonymous SNV R120H 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335150 chr12 81102342 81102342 T A rs143677057 MYF6 Nonsynonymous SNV W187R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.7 335151 chr12 94618020 94618020 C T rs138808353 PLXNC1 Synonymous SNV N573N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.867 335152 chr13 44455277 44455277 T C rs375655738 LACC1 Synonymous SNV Y52Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 335153 chr13 52391098 52391098 - AGAGGA TMEM272 L51_W52insFL 0 0 0.003 0 0 0 0 1 0 0 0 0 335154 chr14 102675157 102675157 C T WDR20 Nonsynonymous SNV T156M 0 0 0.003 0 0 0 0 1 0 0 0 0 25 335155 chr14 103568465 103568465 C T rs751606763 EXOC3L4 Synonymous SNV S135S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 335156 chr14 105239355 105239355 G A rs56289559 AKT1 Synonymous SNV C344C 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.66 335157 chr14 50246364 50246364 A G KLHDC2 Nonsynonymous SNV R229G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 335158 chr14 51387719 51387719 G A rs1053584523 PYGL Nonsynonymous SNV R209C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335159 chr14 54997760 54997760 T C rs371228131 CGRRF1 Nonsynonymous SNV Y188H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 335160 chr14 75513320 75513320 T C MLH3 Synonymous SNV T1013T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 335161 chr14 91165484 91165484 C T rs952270091 LOC105370622 0 0 0.003 0 0 0 0 1 0 0 0 0 5.732 335162 chr14 98099870 98099870 C T rs73371933 LINC02291 0 0 0.003 0 0 0 0 1 0 0 0 0 3.205 335163 chr15 42163662 42163662 C T rs765985477 SPTBN5 Synonymous SNV R1786R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.173 335164 chr15 44960672 44960672 T C PATL2 Synonymous SNV Q222Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.284 335165 chr15 74421442 74421442 G A rs75640427 LOC283731 0 0 0.003 0 0 0 0 1 0 0 0 0 3.486 335166 chr15 75647016 75647016 C A NEIL1 Nonsynonymous SNV A406D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 335167 chr15 90210170 90210170 C T rs756116966 PLIN1 Synonymous SNV V402V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 335168 chr15 90764708 90764708 G A SEMA4B Nonsynonymous SNV C158Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.69 335169 chr16 1129349 1129349 G A SSTR5 Nonsynonymous SNV A161T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 335170 chr16 1252082 1252082 C T rs1040617300 CACNA1H Synonymous SNV G544G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.187 335171 chr16 1389213 1389213 A G rs777252718 BAIAP3 Nonsynonymous SNV S90G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.024 335172 chr16 22122315 22122315 C T rs758832147 VWA3A Nonsynonymous SNV T230I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 335173 chr16 2230375 2230375 G A rs559809096 CASKIN1 Synonymous SNV A998A 0 0 0.003 0 0 0 0 1 0 0 0 0 4.291 335174 chr16 50667286 50667286 G A rs757531250 NKD1 Nonsynonymous SNV R336Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 335175 chr16 57714198 57714198 C T rs768676588 ADGRG3 Nonsynonymous SNV S110F 0 0 0.003 0 0 0 0 1 0 0 0 0 23 335176 chr16 57953153 57953153 C T CNGB1 Nonsynonymous SNV A597T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 335177 chr16 67320228 67320228 G A rs374850039 PLEKHG4 Nonsynonymous SNV D751N 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335178 chr16 70303524 70303524 C T rs557600847 AARS Nonsynonymous SNV R320H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 335179 chr16 984276 984276 G A rs755989322 LMF1-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.571 335180 chr17 10429177 10429177 G A rs150968280 MYH2 Nonsynonymous SNV R1402W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335181 chr17 11535989 11535989 A G rs145472121 DNAH9 Nonsynonymous SNV D535G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 335182 chr17 1410315 1410315 G A rs145033682 INPP5K Synonymous SNV P245P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.61 335183 chr17 18167042 18167042 A T MIEF2 Nonsynonymous SNV D110V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335184 chr17 2186996 2186996 G A rs774829421 SMG6 Nonsynonymous SNV R791C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335185 chr17 3214289 3214289 C G rs746055392 OR3A4P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.559 335186 chr17 40270320 40270320 C T rs147662719 KAT2A Nonsynonymous SNV R392Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 335187 chr17 41007544 41007544 C G rs762602377 AOC3 Nonsynonymous SNV T114S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.6 335188 chr17 43923180 43923180 G A rs242944 SPPL2C Nonsynonymous SNV R303H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335189 chr17 45421563 45421563 G A rs78561706 EFCAB13 Synonymous SNV K113K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.679 335190 chr17 57775266 57775266 C G PTRH2 Nonsynonymous SNV C25S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 335191 chr17 5984269 5984269 C T rs546183293 WSCD1 Synonymous SNV P97P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.773 335192 chr17 704261 704263 CTC - NXN E304del 0 0 0.003 0 0 0 0 1 0 0 0 0 335193 chr17 72209757 72209757 C T rs751362562 TTYH2 Nonsynonymous SNV P11S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.7 335194 chr17 76462861 76462861 C T rs183360072 DNAH17 Nonsynonymous SNV R2939Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335195 chr17 80039081 80039081 C T rs45507397 FASN Nonsynonymous SNV R2185Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 16.25 335196 chr18 21708908 21708908 C A TTC39C Synonymous SNV A186A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.66 335197 chr18 43252953 43252953 T C SLC14A2 Nonsynonymous SNV I773T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 335198 chr19 10225303 10225303 C T rs141546180 P2RY11, PPAN-P2RY11 Synonymous SNV Y338Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.163 335199 chr19 10426563 10426563 - C rs770684016 FDX2 Frameshift insertion V40Gfs*70 0 0 0.003 0 0 0 0 1 0 0 0 0 335200 chr19 11492737 11492737 G A rs146235694 EPOR Nonsynonymous SNV A99V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.57 335201 chr19 12969369 12969369 C T rs778656447 MAST1 Synonymous SNV R394R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.211 335202 chr19 19823017 19823017 A G rs760116662 ZNF14 Nonsynonymous SNV I358T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.487 335203 chr19 3006462 3006462 C T rs768765477 TLE2 Nonsynonymous SNV G364S 0 0 0.003 0 0 0 0 1 0 0 0 0 16.78 335204 chr19 33444604 33444604 C G rs756192782 CEP89 Nonsynonymous SNV G137R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335205 chr19 33444607 33444607 T G rs779370307 CEP89 Nonsynonymous SNV S136R 0 0 0.003 0 0 0 0 1 0 0 0 0 6.766 335206 chr19 34981373 34981373 G A rs373500546 WTIP Nonsynonymous SNV D254N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.49 335207 chr19 36230305 36230305 A G rs747747271 IGFLR1 Nonsynonymous SNV M127T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 335208 chr19 3656457 3656457 G A rs34201806 PIP5K1C Synonymous SNV T189T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.703 335209 chr19 38103224 38103224 T C rs768260190 ZNF540 Nonsynonymous SNV I316T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 335210 chr19 39905800 39905800 G A rs200867987 PLEKHG2 Nonsynonymous SNV G93E 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 335211 chr19 44771161 44771161 T A rs138380363 ZNF233 Synonymous SNV P95P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.593 335212 chr19 46274999 46275004 CCCGGC - rs749960267 DM1-AS 0 0 0.003 0 0 0 0 1 0 0 0 0 335213 chr19 49657582 49657582 T C rs114040533 HRC Nonsynonymous SNV N305D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 335214 chr19 49657583 49657583 G A rs144793394 HRC Synonymous SNV D304D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.052 335215 chr19 5119696 5119696 C T rs756458000 KDM4B Nonsynonymous SNV P383L 0 0 0.003 0 0 0 0 1 0 0 0 0 19.76 335216 chr19 54140017 54140017 C T rs138559564 DPRX Synonymous SNV I117I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.945 335217 chr19 58805949 58805949 T G ZNF8 Nonsynonymous SNV C259G 0 0 0.003 0 0 0 0 1 0 0 0 0 26.2 335218 chr19 59021230 59021230 G A rs377653125 SLC27A5 Synonymous SNV L263L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.504 335219 chr19 8564557 8564557 C T rs117729791 PRAM1 Synonymous SNV K45K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.962 335220 chr19 8962392 8962392 T C MUC16 Nonsynonymous SNV Y14436C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 335221 chr19 9406701 9406701 G A rs374781593 ZNF699 Nonsynonymous SNV S460L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335222 chr1 100964774 100964774 G A rs61752469 CDC14A Nonsynonymous SNV G278R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 28.5 335223 chr1 109740119 109740119 C T rs769086777 KIAA1324 Synonymous SNV T377T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.34 335224 chr1 109865620 109865620 T C SORT1 Nonsynonymous SNV N516S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 335225 chr1 117561126 117561126 G A rs763269950 CD101 Nonsynonymous SNV R654H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.752 335226 chr1 119683039 119683039 C T rs1031957316 WARS2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.355 335227 chr1 150477201 150477201 G C rs144477069 TARS2 Synonymous SNV G474G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.733 335228 chr1 153930956 153930956 C G rs776031547 CRTC2 Synonymous SNV A6A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 335229 chr1 158943468 158943468 C G PYHIN1 Nonsynonymous SNV S464W 0 0 0.003 0 0 0 0 1 0 0 0 0 13.54 335230 chr1 16058399 16058399 T C PLEKHM2 Synonymous SNV G827G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.742 335231 chr1 162551110 162551110 C T rs771011438 UAP1 Nonsynonymous SNV A232V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 335232 chr1 16265323 16265323 C G rs754640094 SPEN Synonymous SNV A3605A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.153 335233 chr1 167097796 167097796 G A rs146870185 DUSP27 Nonsynonymous SNV R1143H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 335234 chr1 169578812 169578812 C A SELP Nonsynonymous SNV M421I 0 0 0.003 0 0 0 0 1 0 0 0 0 9.088 335235 chr1 17570511 17570511 A G rs763183666 PADI1 Nonsynonymous SNV M589V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 335236 chr1 185963992 185963992 T C rs201865736 HMCN1 Nonsynonymous SNV V1184A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.62 335237 chr1 185987339 185987339 T A rs571034789 HMCN1 Synonymous SNV I1775I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.13 335238 chr1 21044007 21044007 C T rs147438943 KIF17 Nonsynonymous SNV E65K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 335239 chr1 226109682 226109682 G C rs191605313 PYCR2 Nonsynonymous SNV T139S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.393 335240 chr1 228503590 228503590 T C OBSCN Nonsynonymous SNV L4352P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.246 335241 chr1 237791172 237791172 C T rs780993255 RYR2 Nonsynonymous SNV P2078S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 24.7 335242 chr1 3564122 3564122 A G WRAP73 Synonymous SNV A24A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.4 335243 chr1 38078561 38078561 G A rs182482113 RSPO1 Nonsynonymous SNV R157W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 25.8 335244 chr1 44386519 44386519 C T rs200118060 ST3GAL3 Synonymous SNV V288V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.99 335245 chr1 65143942 65143942 G A rs537732470 CACHD1 Nonsynonymous SNV G769R 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335246 chr1 86904649 86904649 G A rs55906076 CLCA2 Nonsynonymous SNV D355N 0 0 0.003 0 0 0 0 1 0 0 0 0 2.433 335247 chr1 90399037 90399037 G A rs759509540 LRRC8D Nonsynonymous SNV R137Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 335248 chr20 2730530 2730530 C T rs939941906 EBF4 Nonsynonymous SNV P306L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 335249 chr20 31547633 31547633 G T rs990105936 EFCAB8 Nonsynonymous SNV A1047S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.17 335250 chr20 32664596 32664596 C T rs141731214 RALY Synonymous SNV I195I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 335251 chr20 33581971 33581971 T C rs182236729 MYH7B Nonsynonymous SNV W865R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 335252 chr20 3540086 3540086 A G rs531512993 ATRN Nonsynonymous SNV N271D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.53 335253 chr20 42271239 42271239 T C rs781622014 IFT52 Nonsynonymous SNV V414A 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 335254 chr20 43251492 43251492 C T rs148994526 ADA Nonsynonymous SNV R118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.86 335255 chr20 48500495 48500495 G A rs1053782030 SLC9A8 Synonymous SNV L477L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.902 335256 chr20 49354468 49354468 A G PARD6B Synonymous SNV L47L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.57 335257 chr20 52583506 52583506 G A rs539868796 BCAS1 Nonsynonymous SNV A416V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.467 335258 chr20 62187038 62187038 C G FNDC11 Nonsynonymous SNV L8V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.03 335259 chr20 62560719 62560719 G A rs781164296 DNAJC5 Synonymous SNV A54A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.26 335260 chr21 34721449 34721449 C T rs780832094 IFNAR1 Nonsynonymous SNV P281S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.063 335261 chr22 43576920 43576920 G A rs763191449 TTLL12 Nonsynonymous SNV T125M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335262 chr22 46782308 46782313 CGGTGA - CELSR1 V2242_T2243del 0 0 0.003 0 0 0 0 1 0 0 0 0 335263 chr22 50960448 50960448 G A rs765314043 NCAPH2 Nonsynonymous SNV R381Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 335264 chr2 102805568 102805568 A T rs376899333 IL1RL2 Nonsynonymous SNV I31L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335265 chr2 113514437 113514437 C T rs146044547 CKAP2L Nonsynonymous SNV V6I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 335266 chr2 152670724 152670724 A T rs755979325 ARL5A Nonsynonymous SNV S35T 0 0 0.007 0 0 0 0 2 0 0 1 0 20.5 335267 chr2 157436203 157436203 G C GPD2 Nonsynonymous SNV S654T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.3 335268 chr2 208841971 208841971 C T rs544929580 PLEKHM3 Nonsynonymous SNV R317Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.241 335269 chr2 209150468 209150468 C G rs896897284 PIKFYVE Nonsynonymous SNV T114R 0 0 0.003 0 0 0 0 1 0 0 0 0 30 335270 chr2 220047286 220047286 C T rs557648857 RETREG2 Synonymous SNV L316L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.671 335271 chr2 238249751 238249751 C T rs150554876 COL6A3 Nonsynonymous SNV R1996K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.79 335272 chr2 27876381 27876381 G A rs551999323 SUPT7L Nonsynonymous SNV R271C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335273 chr2 29246030 29246030 C T rs576932900 TOGARAM2 Synonymous SNV H475H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.87 335274 chr2 50318627 50318627 C G rs886056169 NRXN1 Nonsynonymous SNV Q149H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.81 335275 chr2 51255404 51255404 G A NRXN1 Nonsynonymous SNV T3M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335276 chr2 66739352 66739352 C T rs751312385 MEIS1 Nonsynonymous SNV R272C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335277 chr2 74274145 74274145 C T rs370396109 TET3 Synonymous SNV S274S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.075 335278 chr2 95847180 95847180 G A rs551623974 ZNF2 Nonsynonymous SNV D123N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.681 335279 chr3 109027068 109027068 C A rs144052288 DPPA2 Nonsynonymous SNV A157S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.41 335280 chr3 111685507 111685507 T C rs747269997 PHLDB2 Nonsynonymous SNV L999S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335281 chr3 112710120 112710120 C A rs139947240 GTPBP8 Nonsynonymous SNV R92S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335282 chr3 122437628 122437628 A G PARP14 Nonsynonymous SNV T1544A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.639 335283 chr3 122880228 122880228 G A rs61996317 PDIA5 Nonsynonymous SNV A469T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335284 chr3 12447605 12447605 T C rs201210778 PPARG Synonymous SNV L282L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.27 335285 chr3 126219649 126219649 G T rs768138785 UROC1 Nonsynonymous SNV S345Y 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 335286 chr3 132415579 132415579 C T rs770302939 NPHP3 Nonsynonymous SNV A723T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 1.733 335287 chr3 134327444 134327444 A G KY Synonymous SNV H337H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.333 335288 chr3 135720761 135720761 A - PPP2R3A R141Efs*57 0 0 0.003 0 0 0 0 1 0 0 0 0 335289 chr3 172114959 172114959 C T FNDC3B Synonymous SNV Y1103Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.37 335290 chr3 190165579 190165579 A C rs79216051 TMEM207 Nonsynonymous SNV M38R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.12 335291 chr3 25706412 25706412 G C rs184785543 MIR4442 0 0 0.003 0 0 0 0 1 0 0 0 0 2.754 335292 chr3 27337159 27337159 G A NEK10 Nonsynonymous SNV A418V 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335293 chr3 46307575 46307575 G A rs200478041 CCR3 Nonsynonymous SNV R309Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.59 335294 chr3 46620594 46620594 G T TDGF1 Nonsynonymous SNV W15C 0 0 0.003 0 0 0 0 1 0 0 0 0 22 335295 chr3 49946524 49946524 T C MON1A Nonsynonymous SNV S466G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 335296 chr3 50154590 50154590 T A RBM5 Nonsynonymous SNV F726L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.7 335297 chr3 57154309 57154309 C T rs146518310 IL17RD Synonymous SNV L53L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.66 335298 chr3 66023867 66023867 C T MAGI1 Synonymous SNV G39G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.24 335299 chr4 109680961 109680961 T G rs749920394 ETNPPL Nonsynonymous SNV K35N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.2 335300 chr4 113538665 113538665 A G rs373007985 ZGRF1 Synonymous SNV L845L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.635 335301 chr4 126384821 126384821 T A rs781454695 FAT4 Nonsynonymous SNV F3968L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 335302 chr4 143094790 143094790 C G rs962465332 INPP4B Nonsynonymous SNV E452Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 335303 chr4 156825261 156825261 G A rs555186898 TDO2 Nonsynonymous SNV G43R 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335304 chr4 174292529 174292529 C T SAP30 Synonymous SNV L66L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.756 335305 chr4 1827346 1827346 C A LETM1 Nonsynonymous SNV R382L 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335306 chr4 20529948 20529948 C T rs747310658 MIR218-1 0 0 0.003 0 0 0 0 1 0 0 0 0 13.33 335307 chr4 2949291 2949291 A T NOP14 Nonsynonymous SNV D487E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335308 chr4 48082034 48082034 C T TXK Synonymous SNV R356R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.88 335309 chr4 56847506 56847506 A G rs59759676 CEP135 Synonymous SNV R580R 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.211 335310 chr4 78528878 78528878 C T rs200446959 CXCL13 Nonsynonymous SNV T29I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 335311 chr4 79442762 79442762 C G rs758492674 FRAS1 Nonsynonymous SNV F3542L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 335312 chr4 83411242 83411242 C T rs201972992 TMEM150C Synonymous SNV S171S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 335313 chr4 90816632 90816632 C G rs140567001 MMRN1 Synonymous SNV G170G 0 0 0.003 0 0 0 0 1 0 0 0 0 8.387 335314 chr4 95506760 95506760 A G rs770579618 PDLIM5 Nonsynonymous SNV H130R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 335315 chr5 122751791 122751791 T C rs367707481 CEP120 Synonymous SNV Q52Q 0 0 0.003 0 0 0 0 1 0 0 0 0 3.965 335316 chr5 1330419 1330419 C T rs569450173 CLPTM1L Synonymous SNV P352P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 335317 chr5 140189124 140189124 T A rs782730163 PCDHA4 Nonsynonymous SNV D784E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.227 335318 chr5 178549685 178549685 A G rs780184702 ADAMTS2 Synonymous SNV R1016R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.788 335319 chr5 178549686 178549686 C A rs746802388 ADAMTS2 Nonsynonymous SNV R1016L 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335320 chr5 52361808 52361808 G A ITGA2 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 335321 chr5 65350173 65350173 C T rs77719384 ERBIN Synonymous SNV L1009L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.638 335322 chr5 75902024 75902024 C A rs373926073 IQGAP2 Nonsynonymous SNV S368Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.88 335323 chr5 94756022 94756022 C T rs768744588 FAM81B Nonsynonymous SNV A191V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.16 335324 chr5 94800368 94800368 G - TTC37 T1548Lfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 335325 chr6 10751400 10751400 C T rs115801751 TMEM14B Synonymous SNV F34F 0 0 0.003 0 0 0 0 1 0 0 0 0 13.01 335326 chr6 26428198 26428198 A G rs142784664 BTN2A3P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.997 335327 chr6 52317573 52317573 C T rs139197513 EFHC1 Nonsynonymous SNV R221C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 33 335328 chr6 56362785 56362785 G C DST Nonsynonymous SNV L4032V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 335329 chr7 100190467 100190467 G A rs750143520 FBXO24 Nonsynonymous SNV R195Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 335330 chr7 100218603 100218603 G A rs778880340 TFR2 Synonymous SNV A590A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.935 335331 chr7 100676013 100676013 A G rs878923101 MUC17 Nonsynonymous SNV D439G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335332 chr7 107115671 107115671 T C rs142258382 GPR22 Nonsynonymous SNV I389T 0 0 0.003 0 0 0 0 1 0 0 0 0 19.77 335333 chr7 126173461 126173461 T C rs367623635 GRM8 Nonsynonymous SNV M454V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 335334 chr7 130006963 130006963 - T LOC105375504 0 0 0.003 0 0 0 0 1 0 0 0 0 335335 chr7 132193333 132193333 A G rs775353699 PLXNA4 Synonymous SNV F40F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335336 chr7 139717523 139717523 G T rs149988492 TBXAS1 Nonsynonymous SNV G412W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 34 335337 chr7 150500730 150500730 C T rs141054903 TMEM176A Nonsynonymous SNV T122M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.18 335338 chr7 30705172 30705172 G A rs774939456 CRHR2 Synonymous SNV A132A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.37 335339 chr7 31594516 31594516 G A ITPRID1 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 335340 chr7 47384355 47384355 C T rs200980382 TNS3 Nonsynonymous SNV R883H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 335341 chr7 75958927 75958927 C T rs769886526 YWHAG Synonymous SNV Q237Q 0 0 0.003 0 0 0 0 1 0 0 0 0 10.53 335342 chr7 80301279 80301279 A G CD36 Nonsynonymous SNV S311G 0 0 0.003 0 0 0 0 1 0 0 0 0 25 335343 chr7 99708909 99708909 G A rs530747205 TAF6 Synonymous SNV I349I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 335344 chr8 110418633 110418633 C T rs574539138 PKHD1L1 Nonsynonymous SNV P580L 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335345 chr8 126079940 126079940 C T rs754246927 WASHC5 Nonsynonymous SNV R243H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335346 chr8 139603692 139603692 G A rs140340314 COL22A1 Synonymous SNV G1556G 0 0 0.003 0 0 0 0 1 0 0 0 0 14.65 335347 chr8 144801594 144801594 G A rs200379291 MAPK15 Synonymous SNV T221T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.04 335348 chr8 19218826 19218826 G A rs145746072 SH2D4A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335349 chr8 48586502 48586502 A G rs780482953 SPIDR Nonsynonymous SNV R67G 0 0 0.003 0 0 0 0 1 0 0 0 0 29.1 335350 chr9 112898982 112898982 C G rs141137319 PALM2-AKAP2 Synonymous SNV S244S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 335351 chr9 112899629 112899629 C T rs138927774 PALM2-AKAP2 Nonsynonymous SNV P460L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.459 335352 chr9 131483785 131483785 C T rs761785358 ZDHHC12 Synonymous SNV P169P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.679 335353 chr9 137688732 137688732 A G COL5A1 Synonymous SNV G961G 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.936 335354 chr9 137742019 137742019 - ATCACACCTCCCAGGAAGCACGGG rs774070208 MIR3689B 0 0 0.003 0 0 0 0 1 0 0 0 0 335355 chr9 139221571 139221571 C T rs536295082 DKFZP434A062 0 0 0.003 0 0 0 0 1 0 0 0 0 6.151 335356 chr9 35095282 35095282 G T PIGO Nonsynonymous SNV P94H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335357 chr9 6413553 6413553 C G UHRF2 Synonymous SNV R21R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.06 335358 chr9 93375923 93375923 T C DIRAS2 Nonsynonymous SNV T63A 0 0 0.003 0 0 0 0 1 0 0 0 0 19.07 335359 chr9 95373595 95373595 G C CENPP 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 335360 chr10 100177367 100177367 T C rs372189642 HPS1 Nonsynonymous SNV Q566R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.25 335361 chr10 1038476 1038476 C T rs114516817 GTPBP4 Synonymous SNV T32T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.97 335362 chr10 115609440 115609440 C T rs35452924 DCLRE1A Nonsynonymous SNV G475E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 335363 chr10 129217957 129217957 G A rs41282902 DOCK1 Nonsynonymous SNV E1574K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 335364 chr10 14950582 14950582 - T rs772947736 DCLRE1C Frameshift insertion S520Kfs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 335365 chr10 14951118 14951118 G A rs144654282 DCLRE1C Synonymous SNV N341N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.226 335366 chr10 52603827 52603827 G - A1CF P52Lfs*34 0 0 0.003 0 0 0 0 1 0 0 0 0 335367 chr10 69970068 69970068 G T MYPN Synonymous SNV P1273P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.848 335368 chr10 70404907 70404907 T C rs191829827 TET1 Synonymous SNV V807V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 335369 chr10 91474914 91474914 C T rs768819723 KIF20B Synonymous SNV D305D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.52 335370 chr10 94712064 94712064 C T rs755599890 EXOC6 Nonsynonymous SNV S381L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.4 335371 chr10 95275194 95275194 T C CEP55 Synonymous SNV Y187Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.513 335372 chr10 96954277 96954277 G A rs530002609 ACSM6 Nonsynonymous SNV R12Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.046 335373 chr11 10052685 10052685 T C SBF2 Synonymous SNV A104A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.588 335374 chr11 120989346 120989346 C T rs560630226 TECTA Synonymous SNV A374A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.09 335375 chr11 124487373 124487373 T C PANX3 Synonymous SNV N176N 0 0 0.003 0 0 0 0 1 0 0 0 0 1.144 335376 chr11 18105249 18105249 G A SAAL1 Nonsynonymous SNV R358W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335377 chr11 30926518 30926518 G A DCDC1 Nonsynonymous SNV T540I 0 0 0.003 0 0 0 0 1 0 0 0 0 29.5 335378 chr11 35313842 35313842 G A rs756878924 SLC1A2 Synonymous SNV T361T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 335379 chr11 433357 433357 G T rs79329594 ANO9 Nonsynonymous SNV H103N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335380 chr11 563190 563190 C T rs141096443 RASSF7 Nonsynonymous SNV A275V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 335381 chr11 56431847 56431847 G A rs143115322 OR5AR1 Nonsynonymous SNV R229H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.243 335382 chr11 57455984 57455984 G A rs139913783 ZDHHC5 Synonymous SNV E77E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.934 335383 chr11 57576902 57576902 A G rs200568477 CTNND1 Nonsynonymous SNV Q693R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 335384 chr11 617500 617500 T C CDHR5 Nonsynonymous SNV I603V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 335385 chr11 65733548 65733548 C T rs370263938 SART1 Synonymous SNV G280G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.194 335386 chr11 72004443 72004443 G A CLPB Synonymous SNV L639L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.423 335387 chr11 73748684 73748684 G A rs144462559 C2CD3 Nonsynonymous SNV P1907L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335388 chr11 78369298 78369298 G A rs117724179 TENM4 Synonymous SNV R2705R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.9 335389 chr11 78412763 78412763 C T rs199687168 TENM4 Nonsynonymous SNV R1632H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 23.3 335390 chr11 92714673 92714673 C T rs182349376 MTNR1B Nonsynonymous SNV P95L 0 0 0.003 0 0 0 0 1 0 0 0 0 risk factor 32 335391 chr11 94278803 94278803 G C FUT4 Nonsynonymous SNV E502Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 335392 chr12 113629240 113629240 C G rs150414529 RITA1 Nonsynonymous SNV T167R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 335393 chr12 121622302 121622302 G A rs61740987 P2RX7 Synonymous SNV E495E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.01 335394 chr12 15699617 15699617 G A rs767372861 PTPRO Nonsynonymous SNV G760D 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 335395 chr12 26731686 26731686 T G rs760128808 ITPR2 Nonsynonymous SNV K1530N 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 335396 chr12 46321424 46321424 G A rs745641481 SCAF11 Nonsynonymous SNV S687L 0 0 0.003 0 0 0 0 1 0 0 0 0 18.47 335397 chr12 49374376 49374376 C T rs17123478 WNT1 Synonymous SNV F176F 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 335398 chr12 54338840 54338840 G A rs904690705 HOXC13 Nonsynonymous SNV V265M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335399 chr12 57872882 57872882 C A ARHGAP9 Nonsynonymous SNV W103L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.67 335400 chr12 57944144 57944144 C T KIF5A Synonymous SNV F30F 0 0 0.003 0 0 0 0 1 0 0 0 0 16.51 335401 chr12 6463942 6463942 G T rs149484264 SCNN1A Nonsynonymous SNV L465I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.7 335402 chr12 80890243 80890243 G T rs983513900 PTPRQ Nonsynonymous SNV R563S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 335403 chr12 96676367 96676367 T A rs760020649 CDK17 Nonsynonymous SNV K459M 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335404 chr13 51961639 51961639 C T rs753334868 INTS6 Synonymous SNV Q259Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.19 335405 chr13 73319171 73319171 T C rs3759419 BORA Synonymous SNV S137S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.593 335406 chr14 104472770 104472770 C T rs760622586 TDRD9 Synonymous SNV P586P 0 0 0.003 0 0 0 0 1 0 0 0 0 15.75 335407 chr14 104642630 104642630 C G rs762384381 KIF26A Nonsynonymous SNV P1169A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335408 chr14 104643243 104643243 A G rs1025517915 KIF26A Nonsynonymous SNV Q1373R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 335409 chr14 21571332 21571332 A C TMEM253 Nonsynonymous SNV E190A 0 0 0.003 0 0 0 0 1 0 0 0 0 24 335410 chr14 24806410 24806410 C T RIPK3 Nonsynonymous SNV G386D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 335411 chr14 24839494 24839494 C T NFATC4 Nonsynonymous SNV P297L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335412 chr14 58047841 58047841 C A rs142908765 SLC35F4 Nonsynonymous SNV A297S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.13 335413 chr14 65210357 65210357 C T rs41310848 PLEKHG3 Nonsynonymous SNV P1199L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 13.36 335414 chr14 73959794 73959794 A T HEATR4 Synonymous SNV V940V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 335415 chr14 74756735 74756735 C T ABCD4 Nonsynonymous SNV E209K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335416 chr14 91791256 91791256 T C rs765455054 CCDC88C Synonymous SNV T403T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.562 335417 chr15 25344681 25344681 C T rs145371781 SNORD116-26 0 0 0.003 0 0 0 0 1 0 0 0 0 5.279 335418 chr15 28408338 28408338 C T HERC2 Nonsynonymous SNV V3550I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335419 chr15 31197995 31197995 C T rs151322829 FAN1 Nonsynonymous SNV R377W 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 23 335420 chr15 31664397 31664397 G A rs148453619 KLF13 Synonymous SNV P254P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.85 335421 chr15 41136890 41136890 G A rs201791058 SPINT1 Synonymous SNV A46A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.45 335422 chr15 42458834 42458834 G A rs369489992 VPS39 Synonymous SNV L511L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.7 335423 chr15 42684855 42684855 T C rs149591108 CAPN3 Nonsynonymous SNV Y274H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.05 335424 chr15 42976839 42976839 C T rs529827803 STARD9 Synonymous SNV H1021H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.689 335425 chr15 45008529 45008529 C T B2M Stop gain R117X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335426 chr15 54007532 54007532 T C WDR72 Synonymous SNV E124E 0 0 0.003 0 0 0 0 1 0 0 0 0 2.576 335427 chr15 56676209 56676209 C T rs757074998 TEX9 Synonymous SNV D6D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.977 335428 chr15 65108865 65108865 G A rs150356082 PIF1 Nonsynonymous SNV R592C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.3 335429 chr15 65917843 65917843 G A SLC24A1 Synonymous SNV E475E 0 0 0.003 0 0 0 0 1 0 0 0 0 1.891 335430 chr16 1412634 1412634 C G GNPTG Nonsynonymous SNV T211R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.111 335431 chr16 19126774 19126774 A T rs370538130 ITPRIPL2 Nonsynonymous SNV S331C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.02 335432 chr16 20387393 20387393 G A rs757980490 PDILT Synonymous SNV F180F 0 0 0.003 0 0 0 0 1 0 0 0 0 9.802 335433 chr16 20696687 20696688 CA - rs753211361 ACSM1 V77Efs*6 0 0 0.003 0 0 0 0 1 0 0 0 0 335434 chr16 21049142 21049142 G A rs140821281 DNAH3 Nonsynonymous SNV R1585W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335435 chr16 2282903 2282903 C T rs199627791 E4F1 Nonsynonymous SNV R293C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 335436 chr16 3434934 3434934 A G rs13331981 ZSCAN32 Synonymous SNV G41G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.213 335437 chr16 3651147 3651147 C A rs377201471 SLX4 Nonsynonymous SNV Q332H 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 21.8 335438 chr16 4242709 4242709 G A rs59226311 SRL Synonymous SNV Y289Y 0 0 0.003 0 0 0 0 1 0 0 0 0 4.073 335439 chr16 4245656 4245656 G A rs76988584 SRL Synonymous SNV L170L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.73 335440 chr16 5009386 5009386 C T rs199582094 SEC14L5 Nonsynonymous SNV A21V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 335441 chr16 67183546 67183546 G A rs767546241 B3GNT9 Synonymous SNV P281P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.869 335442 chr16 69167436 69167436 A G rs146966335 UTP4 Nonsynonymous SNV N25S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.95 335443 chr16 87446543 87446543 G A rs543933298 ZCCHC14 Nonsynonymous SNV P458L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 335444 chr16 89349433 89349433 G A ANKRD11 Nonsynonymous SNV P1173S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335445 chr17 1936802 1936802 G A rs200134501 DPH1 Nonsynonymous SNV R27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 14.72 335446 chr17 19685288 19685288 A C rs151157416 ULK2 Synonymous SNV P851P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.215 335447 chr17 19705188 19705188 C T rs199687990 ULK2 Nonsynonymous SNV R448Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 335448 chr17 27045217 27045217 G T rs145137552 RAB34 Synonymous SNV P23P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 335449 chr17 3831295 3831295 A G rs41283381 ATP2A3 Nonsynonymous SNV L1040P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.507 335450 chr17 39464494 39464494 G A rs1031775781 KRTAP16-1 Nonsynonymous SNV R338C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 335451 chr17 40275155 40275155 G C HSPB9 Nonsynonymous SNV R96P 0 0 0.003 0 0 0 0 1 0 0 0 0 24 335452 chr17 40489560 40489560 G A rs746151758 STAT3 Synonymous SNV Y230Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.68 335453 chr17 41931194 41931194 G A rs140396225 CD300LG Synonymous SNV P133P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.938 335454 chr17 56290360 56290360 G A rs780007842 MKS1 Nonsynonymous SNV R78W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335455 chr17 56349028 56349028 C T rs753001079 MPO Nonsynonymous SNV R673Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335456 chr17 72938048 72938048 G A rs115951881 OTOP3 Synonymous SNV V163V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.979 335457 chr17 72939783 72939783 G A rs115086379 OTOP3 Nonsynonymous SNV E239K 0 0 0.003 0 0 0 0 1 0 0 0 0 23 335458 chr17 72943521 72943521 G A rs62638689 OTOP3 Nonsynonymous SNV R506Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335459 chr17 72951957 72951957 G A rs28650840 HID1 Synonymous SNV A522A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.699 335460 chr17 7346024 7346024 G A rs200684010 FGF11 Nonsynonymous SNV G115S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335461 chr17 73824067 73824067 A G rs61753922 UNC13D Synonymous SNV H1084H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.418 335462 chr17 74169800 74169800 G A RNF157 Synonymous SNV D93D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.49 335463 chr17 76989966 76989966 G A CANT1 Nonsynonymous SNV T291M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.1 335464 chr17 78064002 78064002 G T CCDC40 Nonsynonymous SNV G966V 0 0 0.003 0 0 0 0 1 0 0 0 0 2.592 335465 chr17 78071198 78071198 G A rs200902434 CCDC40 Nonsynonymous SNV R1059Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 9.74 335466 chr17 78079677 78079677 C G rs113085339 GAA Nonsynonymous SNV L226V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.298 335467 chr17 79418156 79418156 C T MIR3186 0 0 0.003 0 0 0 0 1 0 0 0 0 6.489 335468 chr17 79496269 79496269 C T rs781855403 FSCN2 Nonsynonymous SNV L238F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 335469 chr17 9804414 9804414 T C RCVRN Nonsynonymous SNV I129V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 335470 chr18 6955500 6955500 C T rs201345823 LOC101927188 0 0 0.003 0 0 0 0 1 0 0 0 0 9.031 335471 chr19 10403746 10403746 G T rs538772813 ICAM5 Nonsynonymous SNV R430L 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 335472 chr19 11417417 11417417 C T rs752996851 TSPAN16 Synonymous SNV N171N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.611 335473 chr19 12404134 12404134 G C ZNF44 Synonymous SNV L20L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.02 335474 chr19 15890688 15890688 C T rs973139326 CYP4F24P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.926 335475 chr19 1986595 1986595 C T rs138551280 BTBD2 Synonymous SNV S490S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.69 335476 chr19 33110263 33110263 C A rs201500413 ANKRD27 Nonsynonymous SNV R637L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.95 335477 chr19 33703769 33703769 T C rs896177640 SLC7A10 Nonsynonymous SNV M166V 0 0 0.003 0 0 0 0 1 0 0 0 0 12.85 335478 chr19 36574043 36574043 G A WDR62 Nonsynonymous SNV E484K 0 0 0.003 0 0 0 0 1 0 0 0 0 16.44 335479 chr19 37905170 37905170 - A rs752923644 ZNF569 Frameshift insertion S132Ffs*7 0 0 0.003 0 0 0 0 1 0 0 0 0 335480 chr19 48800302 48800302 G A rs756376602 CCDC114 Synonymous SNV H648H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.458 335481 chr19 52825796 52825796 A G rs150701576 ZNF480 Synonymous SNV E388E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.384 335482 chr19 56126022 56126022 C T ZNF865 Synonymous SNV G346G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 335483 chr19 9056232 9056232 A T rs192023755 MUC16 Nonsynonymous SNV V10405D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 335484 chr19 9073607 9073607 G A rs749252183 MUC16 Synonymous SNV N4613N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.404 335485 chr1 1262391 1262391 C T CPTP Nonsynonymous SNV A34V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 335486 chr1 1389814 1389814 G A rs575610071 ATAD3C Synonymous SNV G104G 0 0 0.007 0 0 0 0 2 0 0 0 0 5.02 335487 chr1 147086414 147086414 A G BCL9 Nonsynonymous SNV K187E 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335488 chr1 153752410 153752410 G A rs142522769 SLC27A3 Nonsynonymous SNV V627I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.776 335489 chr1 156047088 156047088 C T rs368560209 MEX3A Synonymous SNV A280A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.69 335490 chr1 16103677 16103677 C T rs781317747 FBLIM1 Synonymous SNV P204P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.19 335491 chr1 16525742 16525742 G A rs755453406 ARHGEF19 Synonymous SNV P718P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.63 335492 chr1 173446563 173446563 C T rs140551525 PRDX6 Synonymous SNV D9D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.95 335493 chr1 175332919 175332919 C A TNR Nonsynonymous SNV D545Y 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335494 chr1 204226945 204226945 A G rs765122476 PLEKHA6 Nonsynonymous SNV Y354H 0 0 0.003 0 0 0 0 1 0 0 0 0 15.67 335495 chr1 205138608 205138608 T C rs377628453 DSTYK Nonsynonymous SNV Q336R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 0.01 335496 chr1 205492705 205492705 T G rs773881781 CDK18 Synonymous SNV P75P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.511 335497 chr1 207078436 207078436 C T rs752867181 FCMR Synonymous SNV V255V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.462 335498 chr1 21887691 21887691 G A rs139811782 ALPL Nonsynonymous SNV V40M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely pathogenic 27.2 335499 chr1 227069661 227069661 C T rs143061887 PSEN2 Nonsynonymous SNV T18M 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 335500 chr1 227076716 227076716 C T rs200332829 PSEN2 Synonymous SNV S251S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 18.59 335501 chr1 233394194 233394194 A C PCNX2 Nonsynonymous SNV S472A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.729 335502 chr1 233807127 233807127 G A rs147294916 KCNK1 Nonsynonymous SNV E288K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 335503 chr1 235922565 235922565 T C rs34423788 LYST Synonymous SNV G2196G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.873 335504 chr1 27212571 27212571 G T GPN2 Nonsynonymous SNV H208N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.97 335505 chr1 40214666 40214666 C T rs547998863 PPIE Synonymous SNV G200G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.4 335506 chr1 41976664 41976664 C T rs745533494 HIVEP3 Nonsynonymous SNV G2226R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 335507 chr1 47753288 47753288 G A rs138235440 STIL Synonymous SNV S356S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.325 335508 chr1 52747360 52747360 C T rs142219419 ZFYVE9 Nonsynonymous SNV T907I 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 335509 chr1 53685933 53685933 C G rs374280662 CZIB Nonsynonymous SNV K30N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 335510 chr1 6681490 6681490 C T rs755788142 PHF13 Synonymous SNV L232L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.9 335511 chr1 7848256 7848256 C T rs150445246 PER3 Nonsynonymous SNV A181V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.47 335512 chr20 33000366 33000366 C T ITCH Synonymous SNV H86H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.61 335513 chr20 33588880 33588880 C T rs376844773 MYH7B Synonymous SNV R1840R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.88 335514 chr20 37177369 37177369 A G RALGAPB Synonymous SNV G980G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.891 335515 chr20 44577663 44577663 C T ZNF335 Nonsynonymous SNV V1320M 0 0 0.003 0 0 0 0 1 0 0 0 0 18.95 335516 chr20 45812018 45812018 A G EYA2 Synonymous SNV E426E 0 0 0.003 0 0 0 0 1 0 0 0 0 5.677 335517 chr20 50408134 50408134 G A rs113287064 SALL4 Synonymous SNV H296H 0 0 0.003 0 0 0 0 1 0 0 0 0 1.043 335518 chr20 61391471 61391471 A G rs967388196 NTSR1 Nonsynonymous SNV N370S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.469 335519 chr21 35122462 35122462 G A rs150191551 ITSN1 Nonsynonymous SNV A121T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.97 335520 chr21 40795194 40795194 T C rs752466071 LCA5L Nonsynonymous SNV H182R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 335521 chr22 21989793 21989793 C T rs779637071 CCDC116 Nonsynonymous SNV R481C 0 0 0.003 0 0 0 0 1 0 0 0 0 5.683 335522 chr22 30642690 30642690 G T rs374804764 LOC91370 0 0 0.003 0 0 0 0 1 0 0 0 0 16.81 335523 chr22 30890930 30890930 T A SEC14L4 Nonsynonymous SNV M148L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.991 335524 chr22 32651305 32651305 C T rs147316507 SLC5A4 Synonymous SNV T4T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 335525 chr22 37875507 37875507 T A rs754508062 MFNG Nonsynonymous SNV Y132F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335526 chr22 43272283 43272283 G A rs201678639 PACSIN2 Nonsynonymous SNV S362F 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 335527 chr22 50685132 50685132 C T rs761119286 HDAC10 Nonsynonymous SNV R496Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 335528 chr2 109746170 109746170 C T rs148709667 SH3RF3 Synonymous SNV S58S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 335529 chr2 133489555 133489555 C T rs371367810 NCKAP5 Nonsynonymous SNV R414H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335530 chr2 149851002 149851002 A G KIF5C Nonsynonymous SNV E658G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335531 chr2 166245545 166245545 A G rs2227898 SCN2A Synonymous SNV K1743K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.07 335532 chr2 171323116 171323116 G T rs35169479 MYO3B Nonsynonymous SNV R970L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335533 chr2 171917601 171917601 T C rs759702132 TLK1 Synonymous SNV E36E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.003 335534 chr2 179449653 179449653 A G rs765749707 TTN Nonsynonymous SNV I12507T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 14.71 335535 chr2 179482114 179482114 C T rs772625773 TTN Nonsynonymous SNV E6835K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 335536 chr2 179483561 179483561 T C rs756209105 TTN Synonymous SNV T6507T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 335537 chr2 179511261 179511261 T C rs756681989 TTN Synonymous SNV K13416K 0 0 0.003 0 0 0 0 1 0 0 0 0 1.265 335538 chr2 182468580 182468580 G C rs549225035 CERKL Nonsynonymous SNV F155L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.272 335539 chr2 190531189 190531189 C G rs146979789 ASNSD1 Nonsynonymous SNV L111V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.416 335540 chr2 204305124 204305124 G T RAPH1 Nonsynonymous SNV P930Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 335541 chr2 207169486 207169486 A G rs114752443 ZDBF2 Synonymous SNV E78E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.63 335542 chr2 207651464 207651464 G T rs145043229 FASTKD2 Nonsynonymous SNV V479L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 7.888 335543 chr2 21361965 21361965 T C TDRD15 Synonymous SNV Y542Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 335544 chr2 219754737 219754737 C T rs201117517 WNT10A Synonymous SNV I136I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 335545 chr2 225630481 225630481 G A rs368600276 DOCK10 Nonsynonymous SNV P2167L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.89 335546 chr2 228564032 228564032 G C rs138363524 SLC19A3 Synonymous SNV P133P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.519 335547 chr2 228881425 228881425 G T rs758411799 SPHKAP Nonsynonymous SNV P1382H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.782 335548 chr2 233407773 233407773 C T CHRNG Synonymous SNV I262I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.43 335549 chr2 240002874 240002874 G A rs752236118 HDAC4 Synonymous SNV P884P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.69 335550 chr2 242743383 242743383 G A rs376597256 GAL3ST2 Synonymous SNV Q333Q 0 0 0.003 0 0 0 0 1 0 0 0 0 2.884 335551 chr2 26569028 26569028 G A rs751647732 ADGRF3 Synonymous SNV T25T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.02 335552 chr2 26652572 26652572 G A rs141540461 DRC1 Nonsynonymous SNV R206Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 335553 chr2 27249193 27249193 C G MAPRE3 Nonsynonymous SNV Q275E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.07 335554 chr2 63176074 63176074 A G rs778945061 EHBP1 Nonsynonymous SNV E698G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 335555 chr2 71185487 71185487 G A rs531614845 ATP6V1B1 Nonsynonymous SNV D100N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 335556 chr2 85581547 85581547 G A rs762253353 RETSAT Synonymous SNV S28S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.751 335557 chr2 85769047 85769047 A G rs75623534 MAT2A Synonymous SNV L167L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.085 335558 chr2 85981410 85981410 C A ATOH8 Nonsynonymous SNV P33Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 335559 chr3 121836936 121836936 A G rs908132437 CD86 Nonsynonymous SNV K185E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335560 chr3 123987634 123987634 C T rs142942083 KALRN Synonymous SNV P165P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.46 335561 chr3 124281738 124281738 G T rs777576720 KALRN Nonsynonymous SNV G1660C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 335562 chr3 132345591 132345591 C T rs138592725 ACAD11 Nonsynonymous SNV E381K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335563 chr3 137850039 137850039 G A rs150987818 A4GNT Synonymous SNV L20L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 335564 chr3 150645929 150645929 A T CLRN1 Nonsynonymous SNV S89T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.409 335565 chr3 195638585 195638585 G A rs577528459 TNK2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 6.512 335566 chr3 36527631 36527631 G A rs148711558 STAC Nonsynonymous SNV G132S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 335567 chr3 38043199 38043199 C T rs184033233 VILL Stop gain Q240X 0 0 0.003 0 0 0 0 1 0 0 0 0 37 335568 chr3 44409010 44409010 C G TCAIM Nonsynonymous SNV L128V 0 0 0.003 0 0 0 0 1 0 0 0 0 27 335569 chr3 4706891 4706891 G C ITPR1 Nonsynonymous SNV G527R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 335570 chr3 48419882 48419882 G A FBXW12 Nonsynonymous SNV A142T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 335571 chr3 49348120 49348120 T C rs142524351 USP4 Nonsynonymous SNV H249R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.438 335572 chr4 100571187 100571187 - G C4orf54 Frameshift insertion R1540Pfs*72 0 0 0.003 0 0 0 0 1 0 0 0 0 335573 chr4 100573411 100573411 G A rs766624829 C4orf54 Nonsynonymous SNV R799C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335574 chr4 162459389 162459389 A C FSTL5 Nonsynonymous SNV I413S 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335575 chr4 23833197 23833197 C T rs769377888 PPARGC1A Nonsynonymous SNV A11T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 335576 chr4 56865496 56865496 G A rs753312635 CEP135 Nonsynonymous SNV V680I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 335577 chr4 6303946 6303946 C T rs56035336 WFS1 Synonymous SNV S808S 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 13.61 335578 chr4 70361142 70361142 A G rs377321777 UGT2B4 Synonymous SNV D146D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.009 335579 chr4 74283848 74283848 C T rs776185501 ALB Nonsynonymous SNV T491M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.1 335580 chr4 88234985 88234985 G A rs993184958 HSD17B13 Nonsynonymous SNV P193S 0 0 0.003 0 0 0 0 1 0 0 0 0 18.04 335581 chr5 1034405 1034405 C T rs760177567 NKD2 Nonsynonymous SNV T129M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 335582 chr5 112420924 112420924 C T rs150602416 MCC Synonymous SNV P304P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.18 335583 chr5 118469443 118469443 G C rs191186438 DMXL1 Synonymous SNV L608L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.216 335584 chr5 118525497 118525497 G A rs774587642 DMXL1 Synonymous SNV S2410S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.986 335585 chr5 131190471 131190471 T C MEIKIN Synonymous SNV P277P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.67 335586 chr5 131713928 131713928 G A rs541126811 SLC22A5 0 0 0.003 0 0 0 0 1 0 0 0 0 3.288 335587 chr5 133914692 133914692 A G JADE2 Synonymous SNV S687S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.364 335588 chr5 140799742 140799742 T C rs901184536 PCDHGB7 Synonymous SNV D772D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.885 335589 chr5 149495371 149495371 C T rs774197688 PDGFRB Synonymous SNV S1028S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.33 335590 chr5 153030006 153030006 G A GRIA1 Nonsynonymous SNV E113K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 335591 chr5 180045792 180045792 C T FLT4 Synonymous SNV R993R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.3 335592 chr5 79961168 79961168 C T MSH3 Stop gain Q189X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335593 chr5 9122828 9122828 G A rs750129620 SEMA5A Nonsynonymous SNV A574V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.75 335594 chr5 9122829 9122829 C G rs758060775 SEMA5A Nonsynonymous SNV A574P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 335595 chr5 96215481 96215481 A G rs367736564 ERAP2 Nonsynonymous SNV Q31R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335596 chr6 109771620 109771620 C T rs777546976 MICAL1 Synonymous SNV Q377Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 335597 chr6 117246670 117246670 G C rs146115506 RFX6 Nonsynonymous SNV R578P 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 335598 chr6 119501545 119501545 C T MAN1A1 Synonymous SNV R589R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 335599 chr6 151673224 151673224 C T AKAP12 Nonsynonymous SNV T1128I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.536 335600 chr6 158497726 158497726 C T rs757918341 SYNJ2 Synonymous SNV A550A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 335601 chr6 160514415 160514415 C T LOC729603 0 0 0.003 0 0 0 0 1 0 0 0 0 0.262 335602 chr6 33653536 33653536 G A rs530888502 ITPR3 Nonsynonymous SNV V1867M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 335603 chr6 51640641 51640641 C T rs373643848 PKHD1 Nonsynonymous SNV R2840H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 335604 chr7 100482039 100482039 - AGG rs755952551 SRRT E275_Q276insE 0 0 0.003 0 0 0 0 1 0 0 0 0 335605 chr7 138916603 138916603 G A UBN2 Nonsynonymous SNV E125K 0 0 0.003 0 0 0 0 1 0 0 0 0 8.491 335606 chr7 143807427 143807427 T A rs780743447 OR2A2 Nonsynonymous SNV F251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 5.635 335607 chr7 1512720 1512720 C T rs201873966 INTS1 Nonsynonymous SNV E2020K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 335608 chr7 1523698 1523698 A G INTS1 Nonsynonymous SNV F1124L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 335609 chr7 36458861 36458861 C T rs202227780 ANLN Nonsynonymous SNV R511C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335610 chr7 39726270 39726270 G A rs148748965 RALA Nonsynonymous SNV A2T 0 0 0.003 0 0 0 0 1 0 0 0 0 28 335611 chr7 45120108 45120108 C G NACAD X1563Y 0 0 0.003 0 0 0 0 1 0 0 0 0 6.916 335612 chr7 45145187 45145187 C T rs781357789 TBRG4 Synonymous SNV Q207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 7.334 335613 chr7 55466206 55466206 G A LANCL2 Nonsynonymous SNV R138Q 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 335614 chr7 98800856 98800856 C T rs765119464 KPNA7 Nonsynonymous SNV R25Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 335615 chr7 98878544 98878544 C T rs138061825 MYH16 0 0 0.003 0 0 0 0 1 0 0 0 0 14.97 335616 chr8 114326813 114326813 T C rs144647346 CSMD3 Nonsynonymous SNV N130D 0 0 0.003 0 0 0 0 1 0 0 0 0 17.22 335617 chr8 131792813 131792813 G A rs146198447 ADCY8 Synonymous SNV A1193A 0 0 0.003 0 0 0 0 1 0 0 0 0 7.986 335618 chr8 133935619 133935619 A C TG Nonsynonymous SNV Q1522P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 335619 chr8 139890176 139890176 G C rs143860235 COL22A1 Nonsynonymous SNV L159V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 335620 chr8 145557024 145557024 G A rs145693384 SCRT1 Synonymous SNV N290N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.389 335621 chr8 1719675 1719675 A G rs138581191 CLN8 Nonsynonymous SNV N152S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.761 335622 chr8 21766946 21766946 G A rs143272640 DOK2 Nonsynonymous SNV A218V 0 0 0.003 0 0 0 0 1 0 0 0 0 27.9 335623 chr8 22069127 22069127 G A rs149176169 BMP1 Synonymous SNV S949S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.83 335624 chr8 22145054 22145054 T C rs752196821 PIWIL2 Nonsynonymous SNV C253R 0 0 0.003 0 0 0 0 1 0 0 0 0 24 335625 chr8 55538502 55538502 A C rs536230043 RP1 Nonsynonymous SNV D687A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335626 chr9 100890465 100890465 G A rs143294637 CORO2A Synonymous SNV S386S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.965 335627 chr9 100892153 100892153 T C CORO2A Nonsynonymous SNV Y297C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 335628 chr9 116812080 116812080 T A ZNF618 Nonsynonymous SNV I800N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 335629 chr9 123594163 123594163 G A PSMD5 Synonymous SNV L127L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.52 335630 chr9 126143972 126143972 C T rs546550206 DENND1A Synonymous SNV T934T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.04 335631 chr9 12694273 12694273 C T rs387907171 TYRP1 Nonsynonymous SNV R93C 0 0 0.003 0 0 0 0 1 0 0 0 0 Affects 23.4 335632 chr9 130271392 130271392 G A rs375242377 NIBAN2 Nonsynonymous SNV R381W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335633 chr9 130579526 130579526 G A rs188450612 LOC102723566 0 0 0.003 0 0 0 0 1 0 0 0 0 12.6 335634 chr9 130885347 130885347 G A PTGES2 Synonymous SNV Y251Y 0 0 0.003 0 0 0 0 1 0 0 0 0 8.241 335635 chr9 131250171 131250171 G A rs370376492 ODF2 Nonsynonymous SNV R387Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 335636 chr9 134351434 134351434 C G rs368629851 PRRC2B Synonymous SNV R1306R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.14 335637 chr9 134385151 134385151 G A rs765489692 POMT1 Stop gain W35X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 335638 chr9 21967163 21967163 A - rs370747897 CDKN2A-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 335639 chr9 2717760 2717760 G C rs757360187 KCNV2 Nonsynonymous SNV R7S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 335640 chr9 27565556 27565556 T C rs374411112 C9orf72 Synonymous SNV L159L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.439 335641 chr9 34971426 34971426 G A rs903425967 PHF24 Nonsynonymous SNV R44H 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 335642 chr9 77397623 77397623 G A rs188619721 TRPM6 Synonymous SNV Y1017Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.308 335643 chr9 92020291 92020291 T C rs150990736 SEMA4D Nonsynonymous SNV I27M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.028 335644 chr9 97221530 97221530 A C rs903569713 MFSD14B Nonsynonymous SNV S453R 0 0 0.003 0 0 0 0 1 0 0 0 0 9.244 335645 chr10 119798924 119798924 G T rs150998302 RAB11FIP2 Nonsynonymous SNV T275K 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 335646 chr10 19498601 19498601 C T rs200935166 MALRD1 Nonsynonymous SNV P995S 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 335647 chr10 35928702 35928702 G A rs143257882 FZD8 Synonymous SNV F552F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.864 335648 chr10 49988122 49988122 A G WDFY4 Synonymous SNV T1178T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 335649 chr10 50944483 50944483 C T OGDHL Nonsynonymous SNV G683R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.3 335650 chr10 97687019 97687019 T G CC2D2B Nonsynonymous SNV L89W 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 335651 chr10 99527409 99527409 C T SFRP5 Synonymous SNV V272V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.98 335652 chr11 126277145 126277145 A G ST3GAL4 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 335653 chr11 1272161 1272161 C T MUC5B Nonsynonymous SNV A4684V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.604 335654 chr11 233176 233176 G A rs538372641 SIRT3 Synonymous SNV Y107Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.118 335655 chr11 35016640 35016640 G A PDHX Nonsynonymous SNV R249Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335656 chr11 57068388 57068388 G A rs756294920 TNKS1BP1 Nonsynonymous SNV T1700M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 335657 chr11 5862213 5862213 C T rs540768482 OR52E6 Synonymous SNV L305L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.26 335658 chr11 60268585 60268585 C G MS4A12 Nonsynonymous SNV S115C 0 0 0.003 0 0 0 0 1 0 0 0 0 7.307 335659 chr11 61511629 61511629 C T DAGLA Nonsynonymous SNV L933F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 335660 chr11 64068330 64068330 G C rs777113200 CATSPERZ Nonsynonymous SNV E75Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 335661 chr11 66102167 66102167 G A rs754638838 RIN1 Nonsynonymous SNV A340V 0 0 0.003 0 0 0 0 1 0 0 0 0 3.565 335662 chr11 66999118 66999118 G A rs372416402 KDM2A Nonsynonymous SNV R389H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335663 chr11 6740406 6740406 T G GVINP1 0 0 0.003 0 0 0 0 1 0 0 0 0 17.57 335664 chr11 67800633 67800633 G A rs144125742 NDUFS8 Synonymous SNV P85P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.233 335665 chr11 68115563 68115563 G A LRP5 Nonsynonymous SNV A114T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 335666 chr11 8642810 8642810 A G TRIM66 Nonsynonymous SNV V929A 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 335667 chr12 101720955 101720955 C T rs201637301 UTP20 Synonymous SNV A1046A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.29 335668 chr12 102153854 102153854 A C GNPTAB Nonsynonymous SNV L1068R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 335669 chr12 120884459 120884459 G A rs769289249 GATC 0 0 0.003 0 0 0 0 1 0 0 0 0 21 335670 chr12 122473335 122473335 T G BCL7A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 335671 chr12 123333036 123333036 G A HIP1R Nonsynonymous SNV E61K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335672 chr12 27844711 27844711 G A rs201810502 PPFIBP1 Synonymous SNV G758G 0 0 0.003 0 0 0 0 1 0 0 0 0 9.794 335673 chr12 28116358 28116358 G C rs199690911 PTHLH Nonsynonymous SNV D149E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.926 335674 chr12 32134011 32134011 G A rs181098365 RESF1 Nonsynonymous SNV S41N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 335675 chr12 49725026 49725026 G T TROAP Nonsynonymous SNV A710S 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 335676 chr12 52400920 52400920 G C rs891390430 GRASP Synonymous SNV P39P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.78 335677 chr12 56567635 56567635 - GTGCAGAGAGAGGCAGAGACAG rs759999976 SMARCC2 0 0 0.003 0 0 0 0 1 0 0 0 0 335678 chr12 57424074 57424074 G A rs759196086 MYO1A Synonymous SNV S837S 0 0 0.003 0 0 0 0 1 0 0 0 0 9.838 335679 chr12 58113927 58113927 G A rs199957000 OS9 Nonsynonymous SNV R534H 0 0 0.003 0 0 0 0 1 0 0 0 0 22 335680 chr12 6422921 6422921 G A PLEKHG6 Nonsynonymous SNV A57T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.09 335681 chr12 95918558 95918558 C T rs372529431 USP44 Nonsynonymous SNV R544H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 335682 chr12 98989527 98989527 C G SLC25A3 Synonymous SNV S60S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.79 335683 chr13 114530003 114530003 G C GAS6 Synonymous SNV P481P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.801 335684 chr13 32911309 32911309 C T rs367921107 BRCA2 Synonymous SNV T939T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.656 335685 chr13 32971119 32971119 A G rs80359228 BRCA2 Nonsynonymous SNV K3196E 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 23.7 335686 chr13 52603582 52603582 G A rs769956185 UTP14C Nonsynonymous SNV M214I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 335687 chr14 102514329 102514329 G T rs754395575 DYNC1H1 Synonymous SNV T4394T 0 0 0.003 0 0 0 0 1 0 0 0 0 3.455 335688 chr14 103400084 103400084 G C rs140640502 CDC42BPB Nonsynonymous SNV L1701V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 335689 chr14 105175969 105175969 C T rs781255309 INF2 Nonsynonymous SNV R689W 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 335690 chr14 105643327 105643327 G C NUDT14 Nonsynonymous SNV L55V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.3 335691 chr14 24785183 24785183 C T rs951705714 LTB4R Nonsynonymous SNV T109M 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 335692 chr14 31067716 31067716 C T rs774032938 G2E3 Synonymous SNV N175N 0 0 0.003 0 0 0 0 1 0 0 0 0 16.58 335693 chr14 57279998 57279998 G C rs397832921 OTX2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.023 335694 chr14 65264537 65264537 A G rs139892907 SPTB Synonymous SNV V364V 0 0 0.003 0 0 0 0 1 0 0 0 0 5.256 335695 chr15 33872208 33872208 C T rs756987758 RYR3 Synonymous SNV L434L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.421 335696 chr15 35192987 35192987 A G AQR Synonymous SNV G693G 0 0 0.003 0 0 0 0 1 0 0 0 0 5.638 335697 chr15 43658778 43658778 T C ZSCAN29 Nonsynonymous SNV E251G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 335698 chr15 56387226 56387226 C A rs199811341 RFX7 Nonsynonymous SNV M803I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.44 335699 chr15 58855786 58855786 T C rs765084082 LIPC Nonsynonymous SNV F418L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.446 335700 chr15 75645056 75645056 T C NEIL1 Synonymous SNV D184D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.598 335701 chr16 11785401 11785401 C T rs772846078 TXNDC11 Nonsynonymous SNV V97I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.746 335702 chr16 1537745 1537745 C T rs371529505 PTX4 Nonsynonymous SNV R118Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.206 335703 chr16 22826202 22826202 G C rs761370570 HS3ST2 Nonsynonymous SNV A91P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.945 335704 chr16 2374467 2374467 C T rs137924161 ABCA3 Nonsynonymous SNV V129M 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.4 335705 chr16 4748452 4748452 G C rs753090421 ANKS3 Nonsynonymous SNV A394G 0 0 0.003 0 0 0 0 1 0 0 0 0 23 335706 chr16 77759403 77759403 T A rs200408443 NUDT7 Stop gain Y37X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335707 chr16 78458819 78458819 C G rs770774574 WWOX Nonsynonymous SNV L107V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.23 335708 chr16 80583536 80583536 A C DYNLRB2 Nonsynonymous SNV M108L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.68 335709 chr16 84099356 84099356 C A rs747895136 MBTPS1 Synonymous SNV G790G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.56 335710 chr16 85667668 85667668 C T rs778146704 GSE1 Synonymous SNV A52A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 335711 chr16 8738419 8738419 A G rs770144887 METTL22 Nonsynonymous SNV N339S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 335712 chr17 33319613 33319613 C T LIG3 Nonsynonymous SNV R453W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 335713 chr17 38497627 38497627 C G RARA-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 335714 chr17 39506855 39506855 A G rs28674800 KRT33A Synonymous SNV S55S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335715 chr17 50008476 50008476 T A rs369235836 CA10 Synonymous SNV G51G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.12 335716 chr17 61619790 61619790 C T rs774807503 KCNH6 Nonsynonymous SNV R715W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335717 chr17 65688811 65688811 G A rs200786021 PITPNC1 Nonsynonymous SNV R269H 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 335718 chr17 74044035 74044035 A G SRP68 Nonsynonymous SNV I26T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.116 335719 chr17 76105820 76105820 T G TNRC6C-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.12 335720 chr17 76556841 76556841 T C DNAH17 Nonsynonymous SNV H671R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 335721 chr17 8065673 8065673 G A VAMP2 Nonsynonymous SNV A8V 0 0 0.003 0 0 0 0 1 0 0 0 0 19.29 335722 chr18 21083603 21083603 T C RMC1 Synonymous SNV Y7Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.762 335723 chr18 29036424 29036424 G A DSG3 Nonsynonymous SNV E24K 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 335724 chr18 29111089 29111089 G A rs727504748 DSG2 Nonsynonymous SNV G385D 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.8 335725 chr18 683342 683342 C T rs773718765 ENOSF1 Synonymous SNV A79A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.71 335726 chr18 7023319 7023319 A G rs745754792 LAMA1 Nonsynonymous SNV C849R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 335727 chr18 8824882 8824882 A G rs149175996 MTCL1 Nonsynonymous SNV N1125S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335728 chr19 1254466 1254466 A G MIDN Nonsynonymous SNV T229A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.475 335729 chr19 14067240 14067240 C T DCAF15 Synonymous SNV T230T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.71 335730 chr19 14079598 14079598 C T RFX1 Synonymous SNV S535S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 335731 chr19 39328286 39328286 G A rs537258025 HNRNPL Synonymous SNV C388C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 335732 chr19 4501321 4501321 C T rs192598858 HDGFL2 Synonymous SNV D636D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.9 335733 chr19 54313570 54313570 C G rs104895566 NLRP12 Nonsynonymous SNV G448A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.41 335734 chr19 5696687 5696687 G A rs11551018 LONP1 Synonymous SNV I393I 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.4 335735 chr19 58198055 58198055 A C rs775500086 ZNF551 Nonsynonymous SNV M110L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335736 chr19 58234669 58234669 G A rs149347082 ZNF671 Nonsynonymous SNV R60W 0 0 0.003 0 0 0 0 1 0 0 0 0 18.82 335737 chr19 59074455 59074466 AGCTGCGGCTGA - rs751709849 MZF1 F393_S396del 0 0 0.003 0 0 0 0 1 0 0 0 0 335738 chr19 8620668 8620668 G A rs371067269 MYO1F Nonsynonymous SNV R6C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335739 chr1 156220783 156220783 G A SMG5 Nonsynonymous SNV L892F 0 0 0.003 0 0 0 0 1 0 0 0 0 25 335740 chr1 175092734 175092734 T C rs148291406 TNN Nonsynonymous SNV M950T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 335741 chr1 177906540 177906540 C A CRYZL2P-SEC16B, SEC16B Nonsynonymous SNV S430I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.68 335742 chr1 1956479 1956479 G A rs757310515 GABRD Nonsynonymous SNV R56Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 29.4 335743 chr1 196709833 196709833 C T rs145975787 CFH Nonsynonymous SNV T956M 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.09 335744 chr1 200337903 200337903 T C rs755712478 LINC00862 0 0 0.003 0 0 0 0 1 0 0 0 0 2.534 335745 chr1 203192642 203192642 C T rs568595374 CHIT1 Nonsynonymous SNV R135H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.45 335746 chr1 209806017 209806017 G A rs776549945 LAMB3 Nonsynonymous SNV R245C 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 335747 chr1 21031222 21031222 G A rs746439314 KIF17 Nonsynonymous SNV R281C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335748 chr1 210329087 210329087 G C SYT14 Nonsynonymous SNV V396L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.4 335749 chr1 216495288 216495288 G A rs140331348 USH2A Synonymous SNV C527C 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 7.53 335750 chr1 228479728 228479728 A T OBSCN Nonsynonymous SNV D3490V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.015 335751 chr1 228504579 228504579 C T rs374697821 OBSCN Synonymous SNV D4485D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 335752 chr1 248367247 248367247 G A rs199968773 OR2M3 Nonsynonymous SNV R293H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 335753 chr1 32089132 32089134 CAC - rs766527549 HCRTR1 T251del 0 0 0.003 0 0 0 0 1 0 0 0 0 335754 chr1 3329037 3329037 G A rs762997591 PRDM16 Nonsynonymous SNV R759Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.22 335755 chr1 39878123 39878123 C T KIAA0754 Nonsynonymous SNV T729I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.123 335756 chr1 45810631 45810631 G A TESK2 Nonsynonymous SNV P450S 0 0 0.003 0 0 0 0 1 0 0 0 0 4.772 335757 chr1 79403535 79403535 G A rs376535985 ADGRL4 Synonymous SNV S239S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.64 335758 chr20 18370401 18370401 A - rs751178253 DZANK1 H487Qfs*65 0 0 0.003 0 0 0 0 1 0 0 0 0 335759 chr20 2797467 2797467 G A rs561743857 TMEM239 Synonymous SNV L89L 0 0 0.003 0 0 0 0 1 0 0 0 0 24 335760 chr20 34147111 34147111 C T rs757100820 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 12.66 335761 chr20 3682008 3682008 G T rs201442720 SIGLEC1 Synonymous SNV T503T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.044 335762 chr20 377083 377083 G A rs146095753 TRIB3 Nonsynonymous SNV G276R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.9 335763 chr20 42232518 42232518 T G rs776524994 IFT52 Nonsynonymous SNV M109R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 335764 chr20 49626364 49626364 T C KCNG1 Nonsynonymous SNV Q171R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.48 335765 chr20 57245657 57245657 C T rs770123369 STX16 Nonsynonymous SNV R212W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 335766 chr20 62729390 62729390 C T rs762717438 OPRL1 Nonsynonymous SNV R152C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335767 chr20 9561423 9561423 G A rs201131316 PAK5 Nonsynonymous SNV A120V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.25 335768 chr21 37442254 37442257 GGGC - rs757487232 LOC100133286 0 0 0.007 0 0 0 0 2 0 0 1 0 335769 chr21 38309235 38309235 G A rs185480832 HLCS Synonymous SNV S317S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.69 335770 chr21 38593872 38593872 C A rs546711481 DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 6.919 335771 chr22 18018683 18018683 C A CECR2 Nonsynonymous SNV A294D 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 335772 chr22 19431879 19431879 C T rs375560562 C22orf39 Nonsynonymous SNV R113Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.41 335773 chr22 40075288 40075288 C T rs369092716 CACNA1I Synonymous SNV A1709A 0 0 0.003 0 0 0 0 1 0 0 0 0 18.93 335774 chr22 41360103 41360103 C T rs142549819 RBX1 Synonymous SNV V70V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.06 335775 chr22 46759940 46759940 G C rs77489567 CELSR1 Synonymous SNV A2996A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.755 335776 chr22 50694578 50694578 G A rs565963616 MAPK12 Synonymous SNV Y175Y 0 0 0.003 0 0 0 0 1 0 0 0 0 2.353 335777 chr2 103324759 103324759 C G rs779498679 SLC9A2 Synonymous SNV P750P 0 0 0.003 0 0 0 0 1 0 0 0 0 3.872 335778 chr2 15427225 15427225 G A rs148464908 NBAS Nonsynonymous SNV H1704Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 335779 chr2 158165160 158165160 G A rs200855507 GALNT5 Nonsynonymous SNV V868I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.196 335780 chr2 160027071 160027071 T G TANC1 Nonsynonymous SNV L168W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 335781 chr2 167162345 167162345 G A rs202083986 SCN9A Nonsynonymous SNV R185C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 335782 chr2 169727989 169727989 - T rs768798081 SPC25 Frameshift insertion L211Sfs*14 0 0 0.003 0 0 0 0 1 0 0 0 0 335783 chr2 170038694 170038694 G C rs149558767 LRP2 Synonymous SNV A3327A 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 2.376 335784 chr2 170063270 170063270 G A LRP2 Synonymous SNV I2320I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.033 335785 chr2 175202188 175202199 GCGGCGGCGGCA - rs889377194 SP9 A467_A470del 0 0 0.003 0 0 0 0 1 0 0 0 0 335786 chr2 186667774 186667774 A G FSIP2 Nonsynonymous SNV I4581V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335787 chr2 219528006 219528006 G A rs775817146 BCS1L Nonsynonymous SNV R219Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.081 335788 chr2 231081574 231081574 G A rs200563150 SP110 Synonymous SNV I23I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.05 335789 chr2 234775652 234775652 G A rs757526821 MSL3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.225 335790 chr2 234775847 234775847 T - rs137902542 MSL3P1 0 0 0.003 0 0 0 0 1 0 0 0 0 335791 chr2 237489879 237489879 C T rs572775769 ACKR3 Synonymous SNV Y257Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.952 335792 chr2 27717419 27717419 C T rs200416283 FNDC4 Nonsynonymous SNV R43Q 0 0 0.003 0 0 0 0 1 0 0 0 0 13.45 335793 chr2 30748462 30748462 G A rs112246701 LCLAT1 Synonymous SNV V2V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 335794 chr2 31400665 31400665 C T rs140566755 CAPN14 Nonsynonymous SNV R601H 0 0 0.003 0 0 0 0 1 0 0 0 0 8.517 335795 chr2 37455728 37455728 G T rs1004607059 CEBPZ Nonsynonymous SNV S203Y 0 0 0.003 0 0 0 0 1 0 0 0 0 19.8 335796 chr2 85069006 85069006 G A TRABD2A Synonymous SNV I265I 0 0 0.003 0 0 0 0 1 0 0 0 0 6.049 335797 chr3 105397410 105397410 C T rs760853495 CBLB Nonsynonymous SNV D459N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335798 chr3 111842348 111842348 G A GCSAM Nonsynonymous SNV P149L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 335799 chr3 111842604 111842604 T C rs373159493 GCSAM Nonsynonymous SNV T64A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.024 335800 chr3 119545684 119545684 C T rs141519181 GSK3B Nonsynonymous SNV R372H 0 0 0.003 0 0 0 0 1 0 0 0 0 29.4 335801 chr3 124492752 124492752 G A rs34328696 ITGB5 Synonymous SNV G414G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.39 335802 chr3 130881277 130881277 C G NEK11 Nonsynonymous SNV L225V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 335803 chr3 16252694 16252694 G A rs2062955 GALNT15 Synonymous SNV A381A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.64 335804 chr3 40503577 40503577 G A rs375865018 RPL14 Nonsynonymous SNV A168T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.12 335805 chr3 44284441 44284441 T G TOPAZ1 Nonsynonymous SNV F148C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 335806 chr3 45821581 45821581 C A SLC6A20 Nonsynonymous SNV V92L 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 335807 chr3 64133216 64133216 T C rs201556180 PRICKLE2 Nonsynonymous SNV N317S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.24 335808 chr3 65425603 65425603 - TGC rs113562374 MAGI1 Q421_T422insQ 0 0 0.003 0 0 0 0 1 0 0 0 0 335809 chr3 66023892 66023892 G T rs139524567 MAGI1 Nonsynonymous SNV T31K 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 335810 chr3 71015042 71015042 C T rs772816590 FOXP1 Nonsynonymous SNV V530M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 335811 chr3 77571941 77571941 C T rs201344460 ROBO2 Synonymous SNV D274D 0 0 0.003 0 0 0 0 1 0 0 0 0 14.82 335812 chr3 97617851 97617851 T C rs554323677 CRYBG3 Nonsynonymous SNV I2609T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 335813 chr4 10447329 10447329 G A ZNF518B Synonymous SNV H208H 0 0 0.003 0 0 0 0 1 0 0 0 0 7.767 335814 chr4 10515153 10515153 C T rs763460829 CLNK Nonsynonymous SNV E281K 0 0 0.003 0 0 0 0 1 0 0 0 0 7.756 335815 chr4 106853845 106853845 A G rs1011911758 NPNT Nonsynonymous SNV S114G 0 0 0.003 0 0 0 0 1 0 0 0 0 15.83 335816 chr4 113199441 113199441 G A rs942451428 TIFA Synonymous SNV S44S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.86 335817 chr4 147149495 147149495 A G rs149144473 REELD1 Synonymous SNV A243A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.69 335818 chr4 159620170 159620170 G C rs770140708 ETFDH Nonsynonymous SNV S274T 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335819 chr4 170037438 170037438 T C SH3RF1 Synonymous SNV K707K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.368 335820 chr4 9922062 9922062 C T rs759074858 SLC2A9 Nonsynonymous SNV V317M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 335821 chr5 10973580 10973580 G A rs377570490 CTNND2 Synonymous SNV P884P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 8.89 335822 chr5 111497454 111497454 G A rs766312047 EPB41L4A-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 3.247 335823 chr5 132537701 132537701 G A rs141050272 FSTL4 Nonsynonymous SNV H584Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 335824 chr5 137372089 137372089 G A LOC100130172 0 0 0.003 0 0 0 0 1 0 0 0 0 5.883 335825 chr5 145176038 145176038 A - rs746239766 PRELID2 F147Lfs*21 0 0 0.003 0 0 0 0 1 0 0 0 0 335826 chr5 145176042 145176042 G T rs755014868 PRELID2 Nonsynonymous SNV T146N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 335827 chr5 162900515 162900515 C T rs186611419 HMMR Stop gain Q199X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 335828 chr5 168098421 168098421 G A rs145548015 SLIT3 Synonymous SNV H1310H 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 335829 chr5 36227641 36227641 A T NADK2 Nonsynonymous SNV S109R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.1 335830 chr5 6312613 6312613 G C rs376858383 LINC02145 0 0 0.003 0 0 0 0 1 0 0 0 0 2.444 335831 chr5 71591372 71591372 C T MRPS27 Synonymous SNV E89E 0 0 0.003 0 0 0 0 1 0 0 0 0 17.12 335832 chr5 7727372 7727372 A C rs747997305 ADCY2 Synonymous SNV P623P 0 0 0.003 0 0 0 0 1 0 0 0 0 7.687 335833 chr5 90059182 90059182 G T rs200816323 ADGRV1 Nonsynonymous SNV V4061F 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.1 335834 chr5 92920922 92920922 G A rs201452963 NR2F1 Nonsynonymous SNV G65S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.52 335835 chr6 117249986 117249986 C T rs770206691 RFX6 Synonymous SNV H821H 0 0 0.003 0 0 0 0 1 0 0 0 0 14.78 335836 chr6 127837498 127837498 G A rs749564631 SOGA3 Nonsynonymous SNV R88C 0 0 0.003 0 0 0 0 1 0 0 0 0 25 335837 chr6 129513936 129513936 G A LAMA2 Nonsynonymous SNV A574T 0 0 0.003 0 0 0 0 1 0 0 0 0 16.06 335838 chr6 166402014 166402014 G A rs758626696 LINC00602 0 0 0.003 0 0 0 0 1 0 0 0 0 14.91 335839 chr6 27279022 27279022 C T POM121L2 Nonsynonymous SNV G310R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.354 335840 chr6 36652014 36652014 C T rs762978904 CDKN1A Nonsynonymous SNV R46C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 335841 chr6 38690727 38690727 T C rs776744908 DNAH8 Nonsynonymous SNV S48P 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.397 335842 chr6 47847041 47847041 G A rs752014981 PTCHD4 Synonymous SNV S513S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.807 335843 chr6 79711639 79711639 G - PHIP P619Lfs*5 0 0 0.003 0 0 0 0 1 0 0 0 0 335844 chr7 100550631 100550631 A T rs72494465 MUC3A Synonymous SNV S404S 0 0 0.003 0 0 0 0 1 0 0 0 0 2.709 335845 chr7 100551393 100551393 G T MUC3A Synonymous SNV S658S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.183 335846 chr7 105187373 105187373 T C rs139565013 RINT1 Nonsynonymous SNV Y100H 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.73 335847 chr7 107389465 107389465 C T rs756977401 CBLL1 Nonsynonymous SNV P52S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 335848 chr7 127255519 127255519 C T rs770477634 PAX4 Nonsynonymous SNV R27Q 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335849 chr7 139799764 139799764 T C KDM7A Synonymous SNV T566T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.954 335850 chr7 141719014 141719014 C T rs782730354 MGAM Nonsynonymous SNV R115C 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335851 chr7 1476380 1476380 G A MICALL2 Synonymous SNV L863L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.93 335852 chr7 149523276 149523276 C T rs753094284 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 8.942 335853 chr7 150439560 150439560 C G rs140492772 GIMAP1-GIMAP5, GIMAP5 Synonymous SNV P111P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.63 335854 chr7 151078990 151078990 G C WDR86 Nonsynonymous SNV P335R 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 335855 chr7 158698692 158698692 C A rs144444098 WDR60 Nonsynonymous SNV S266Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 335856 chr7 23556123 23556123 A G rs376306123 TRA2A Synonymous SNV H65H 0 0 0.003 0 0 0 0 1 0 0 0 0 9.144 335857 chr7 23625055 23625055 C T rs143261047 CLK2P1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.639 335858 chr7 4839021 4839021 C T rs201302683 RADIL Synonymous SNV T1072T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.22 335859 chr7 6094177 6094177 G A rs56396808 EIF2AK1 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 15.2 335860 chr7 72873936 72873936 T C BAZ1B Nonsynonymous SNV K1121R 0 0 0.003 0 0 0 0 1 0 0 0 0 21.3 335861 chr7 80087992 80087992 A C rs534902139 GNAT3 Nonsynonymous SNV F354V 0 0 0.003 0 0 0 0 1 0 0 0 0 28.8 335862 chr8 105261808 105261808 C T RIMS2 Nonsynonymous SNV T164I 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 335863 chr8 110450573 110450573 T C rs757313613 PKHD1L1 Synonymous SNV D1216D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.671 335864 chr8 110474060 110474060 C A rs771917225 PKHD1L1 Nonsynonymous SNV Q2436K 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 335865 chr8 110478822 110478822 C A rs73313124 PKHD1L1 Nonsynonymous SNV T2810N 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 335866 chr8 124267571 124267571 C T rs367724677 ZHX1 Nonsynonymous SNV V206I 0 0 0.003 0 0 0 0 1 0 0 0 0 4.873 335867 chr8 144620909 144620909 C T rs199968243 ZC3H3 Nonsynonymous SNV D210N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.452 335868 chr8 29202996 29202996 T C rs764710273 DUSP4 Synonymous SNV R17R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.451 335869 chr8 2954524 2954524 A T CSMD1 Nonsynonymous SNV S2329T 0 0 0.003 0 0 0 0 1 0 0 0 0 5.382 335870 chr8 51617255 51617255 C T rs145454514 SNTG1 Synonymous SNV L378L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 15.47 335871 chr8 67592131 67592131 G A rs764557707 C8orf44 0 0 0.003 0 0 0 0 1 0 0 0 0 18.88 335872 chr8 75274190 75274190 A G rs148508128 GDAP1 Nonsynonymous SNV I128V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 15.15 335873 chr8 87076709 87076709 G A rs375694521 PSKH2 Nonsynonymous SNV R113W 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 335874 chr8 87755741 87755741 G T rs375530321 CNGB3 Nonsynonymous SNV Q39K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 335875 chr9 111761473 111761473 G C rs780144620 CTNNAL1 Nonsynonymous SNV Q69E 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 335876 chr9 112900678 112900678 A G rs769596408 PALM2-AKAP2 Nonsynonymous SNV M810V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 335877 chr9 115936760 115936760 C T rs554615016 FKBP15 Nonsynonymous SNV R776Q 0 0 0.003 0 0 0 0 1 0 0 0 0 31 335878 chr9 117165194 117165194 C T WHRN Nonsynonymous SNV C504Y 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335879 chr9 129831582 129831582 G A rs188642356 RALGPS1 Nonsynonymous SNV R186Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28 335880 chr9 131151710 131151710 C G rs774521518 URM1 Nonsynonymous SNV P120R 0 0 0.003 0 0 0 0 1 0 0 0 0 20.9 335881 chr9 131151984 131151984 C G rs749134712 URM1 Nonsynonymous SNV L93V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.96 335882 chr9 131586378 131586378 A G SPOUT1 Nonsynonymous SNV V296A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.83 335883 chr9 132872674 132872674 G C GPR107 Nonsynonymous SNV Q444H 0 0 0.003 0 0 0 0 1 0 0 0 0 16.98 335884 chr9 133342160 133342160 C T rs770585183 ASS1 Nonsynonymous SNV R157C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 335885 chr9 135786013 135786013 G A rs118203504 TSC1 Nonsynonymous SNV S352L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 20.9 335886 chr9 137623469 137623469 G A rs370311038 COL5A1 Nonsynonymous SNV G431E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 18.88 335887 chr9 137741062 137741062 C T MIR3689A 0 0 0.003 0 0 0 0 1 0 0 0 0 2.77 335888 chr9 137741063 137741063 A C MIR3689A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.392 335889 chr9 2647544 2647544 C T VLDLR Nonsynonymous SNV R551C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335890 chr9 35811876 35811899 GATGCAGCCGCTGCAGCTGCTGCG - SPAG8 A53_A60del 0 0 0.003 0 0 0 0 1 0 0 0 0 335891 chrX 12938471 12938471 C A rs5744081 TLR8 Synonymous SNV R438R 0 0 0.007 0 0 0 0 2 0 0 1 0 7.699 335892 chrX 135730445 135730445 C T rs368003929 CD40LG Nonsynonymous SNV A13V 0 0 0.007 0 0 0 0 2 0 0 1 0 Conflicting interpretations of pathogenicity 0.008 335893 chrX 16188780 16188780 C A rs931111942 MAGEB17 Nonsynonymous SNV P92H 0 0 0.007 0 0 0 0 2 0 0 1 0 21.4 335894 chrX 41333101 41333101 C T NYX Nonsynonymous SNV A132V 0 0 0.007 0 0 0 0 2 0 0 1 0 12.3 335895 chrX 73069567 73069567 T G XIST 0 0 0.007 0 0 0 0 2 0 0 1 0 5.242 335896 chr10 103588465 103588465 G A rs199813930 KCNIP2 Nonsynonymous SNV L70F 0 0 0.003 0 0 0 0 1 0 0 0 0 5.467 335897 chr10 103868800 103868800 A G rs775239408 LDB1 Nonsynonymous SNV S331P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 335898 chr10 104230590 104230590 C T rs143469826 MFSD13A Synonymous SNV L140L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.93 335899 chr10 132961429 132961429 T A TCERG1L Nonsynonymous SNV R330S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 335900 chr10 30317853 30317853 G C JCAD Synonymous SNV P408P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.269 335901 chr10 31815913 31815913 G C rs747363059 ZEB1 Nonsynonymous SNV E958D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.552 335902 chr10 5931194 5931194 G - ANKRD16 H42Tfs*59 0 0 0.003 0 0 0 0 1 0 0 0 0 335903 chr10 73551036 73551036 G A rs201887949 CDH23 Nonsynonymous SNV R2066Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 1.563 335904 chr10 75011673 75011673 C T rs752650631 MRPS16 Nonsynonymous SNV C41Y 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 335905 chr10 90562748 90562748 A G LIPM Nonsynonymous SNV N32S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.307 335906 chr10 97605210 97605210 G A rs372290136 ENTPD1 Nonsynonymous SNV V86I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.7 335907 chr10 98170203 98170203 C T rs139552531 TLL2 Synonymous SNV T359T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 335908 chr11 1018364 1018364 C T rs768830095 MUC6 Synonymous SNV A1479A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 335909 chr11 1093479 1093479 C A MUC2 Synonymous SNV T1766T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.52 335910 chr11 1093483 1093484 GT - rs747244421 MUC2 V1768Tfs*78 0 0 0.003 0 0 0 0 1 0 0 0 0 335911 chr11 1093486 1093486 - ACCCA MUC2 Frameshift insertion L1769Hfs*10 0 0 0.003 0 0 0 0 1 0 0 0 0 335912 chr11 1093490 1093490 T G MUC2 Nonsynonymous SNV I1770S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.162 335913 chr11 118425748 118425748 G A IFT46 Nonsynonymous SNV P104L 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335914 chr11 122889178 122889178 G A rs769866483 LOC341056 0 0 0.003 0 0 0 0 1 0 0 0 0 2.082 335915 chr11 20136222 20136222 G A rs757817190 NAV2 Nonsynonymous SNV E1413K 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335916 chr11 2436236 2436236 C T rs766715452 TRPM5 Synonymous SNV L507L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.92 335917 chr11 2929472 2929472 C T rs369585161 SLC22A18 Nonsynonymous SNV R137W 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 335918 chr11 45249683 45249683 C T rs568816225 PRDM11 Synonymous SNV H1169H 0 0 0.003 0 0 0 0 1 0 0 0 0 13.52 335919 chr11 555995 555999 CCTCG - rs750285855 LMNTD2 E459Sfs*74 0 0 0.003 0 0 0 0 1 0 0 0 0 335920 chr11 5699542 5699542 T C rs372748770 TRIM5 Synonymous SNV K212K 0 0 0.007 0 0 0 0 2 0 0 0 0 0.064 335921 chr11 64794909 64794909 G A ARL2-SNX15 0 0 0.003 0 0 0 0 1 0 0 0 0 11.4 335922 chr11 66063026 66063026 C T TMEM151A Synonymous SNV L437L 0 0 0.003 0 0 0 0 1 0 0 0 0 2.214 335923 chr11 66335126 66335126 C T CTSF Nonsynonymous SNV S107N 0 0 0.003 0 0 0 0 1 0 0 0 0 20.6 335924 chr11 6661299 6661299 C T rs142972252 DCHS1 Nonsynonymous SNV A516T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 1.546 335925 chr11 67079292 67079292 G A rs748747715 SSH3 Synonymous SNV T638T 0 0 0.003 0 0 0 0 1 0 0 0 0 8.718 335926 chr11 72408401 72408401 C G rs138209865 ARAP1 Nonsynonymous SNV V668L 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 335927 chr11 8122058 8122058 C T rs138124865 TUB Synonymous SNV N375N 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16.85 335928 chr12 100552606 100552606 G A GOLGA2P5 0 0 0.003 0 0 0 0 1 0 0 0 0 6.644 335929 chr12 109665227 109665227 C T rs370089652 ACACB Nonsynonymous SNV R1312W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335930 chr12 110897531 110897531 T C GPN3 Synonymous SNV V137V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.122 335931 chr12 114793613 114793613 G A rs6489957 TBX5 Synonymous SNV S377S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.943 335932 chr12 123461264 123461264 A G rs752127769 OGFOD2 Nonsynonymous SNV I85V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 335933 chr12 125465333 125465333 G A rs538574199 DHX37 Synonymous SNV S147S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 335934 chr12 12878947 12878947 C - APOLD1 P5Rfs*81 0 0 0.003 0 0 0 0 1 0 0 0 0 335935 chr12 133245306 133245306 G A rs766967355 POLE Synonymous SNV D647D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.529 335936 chr12 250326 250326 C T rs144089662 IQSEC3 Synonymous SNV R373R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.32 335937 chr12 27571118 27571118 A G rs920375568 ARNTL2 Nonsynonymous SNV E551G 0 0 0.003 0 0 0 0 1 0 0 0 0 18.37 335938 chr12 27944757 27944757 T C KLHL42 Nonsynonymous SNV L330S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 335939 chr12 4460534 4460534 G A rs770892322 TIGAR Synonymous SNV T124T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.772 335940 chr12 55725798 55725798 G C rs140050454 OR6C3 Nonsynonymous SNV G105A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.98 335941 chr12 6483824 6483824 C T rs138995556 SCNN1A Synonymous SNV T101T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 15.51 335942 chr12 6630997 6630997 G A rs145828257 NCAPD2 Nonsynonymous SNV R583Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.566 335943 chr12 6935877 6935877 A G rs782663904 GPR162 Synonymous SNV E141E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.213 335944 chr12 7249314 7249314 G C rs141631026 C1RL Synonymous SNV G337G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.21 335945 chr12 85546138 85546138 T C LRRIQ1 Synonymous SNV H1470H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 335946 chr12 9317765 9317765 C T rs750633316 PZP Synonymous SNV T819T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.84 335947 chr13 114507931 114507931 T C rs147488514 TMEM255B Nonsynonymous SNV L248P 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 335948 chr13 20716657 20716657 G T rs553789027 GJA3 Synonymous SNV P257P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.22 335949 chr13 23471548 23471548 C T rs570239058 BASP1P1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.289 335950 chr13 96212421 96212421 G T rs371976897 CLDN10 Nonsynonymous SNV A65S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 335951 chr14 101495994 101495994 G A rs538219412 MIR494 0 0 0.003 0 0 0 0 1 0 0 0 0 16.84 335952 chr14 102470972 102470972 C T rs117199211 DYNC1H1 Synonymous SNV N1667N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 14.94 335953 chr14 104407739 104407739 G A RD3L Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.127 335954 chr14 105422990 105422990 G A rs200854519 AHNAK2 Nonsynonymous SNV R84W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335955 chr14 105609412 105609412 G A rs370798389 JAG2 Nonsynonymous SNV R1075W 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335956 chr14 105916400 105916400 A G MTA1 Nonsynonymous SNV I83V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.592 335957 chr14 20692742 20692742 A G rs139056260 OR11H6 Nonsynonymous SNV I292V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 335958 chr14 55369192 55369192 T C GCH1 Nonsynonymous SNV N64D 0 0 0.003 0 0 0 0 1 0 0 0 0 1.308 335959 chr14 60581829 60581829 T C rs199803338 PCNX4 Nonsynonymous SNV I102T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 335960 chr14 61449246 61449246 C T rs752868132 SLC38A6 Synonymous SNV S42S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.55 335961 chr14 65239412 65239412 G A rs774241447 SPTB Synonymous SNV I1813I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.26 335962 chr14 68248167 68248167 C G rs368241137 ZFYVE26 Nonsynonymous SNV R1484S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.1 335963 chr14 69522065 69522065 C T rs371564723 DCAF5 Synonymous SNV L445L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.54 335964 chr14 72054701 72054701 C T rs757353496 SIPA1L1 Nonsynonymous SNV R38C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 335965 chr15 28358722 28358722 C A rs376290379 HERC2 Synonymous SNV T4672T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.73 335966 chr15 29969545 29969545 A G LOC100130111 0 0 0.003 0 0 0 0 1 0 0 0 0 1.839 335967 chr15 33895503 33895503 G A rs200346395 RYR3 Nonsynonymous SNV G701E 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 28.8 335968 chr15 42138491 42138491 G A rs147314177 JMJD7-PLA2G4B, PLA2G4B Nonsynonymous SNV R564H 0 0 0.003 0 0 0 0 1 0 0 0 0 32 335969 chr15 43299467 43299467 A C rs141543407 UBR1 Nonsynonymous SNV S1075R 0 0 0.003 0 0 0 0 1 0 0 0 0 15.46 335970 chr15 45021227 45021227 G T rs2290330 LOC100419583 0 0 0.007 0 0 0 0 2 0 0 1 0 5.445 335971 chr15 49090150 49090150 G A rs548567364 CEP152 Synonymous SNV D62D 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 2.292 335972 chr15 52192485 52192485 T C rs759961884 TMOD3 Nonsynonymous SNV I290T 0 0 0.003 0 0 0 0 1 0 0 0 0 28.1 335973 chr15 54556449 54556449 A C rs761729254 UNC13C Synonymous SNV R1178R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.853 335974 chr15 65239716 65239716 G A rs371021921 ANKDD1A Synonymous SNV L418L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.44 335975 chr15 75043540 75043540 G A rs267604321 CYP1A2 Nonsynonymous SNV R281Q 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 335976 chr15 90152081 90152081 C T rs765757062 TICRR Nonsynonymous SNV P923S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.6 335977 chr16 12009531 12009548 CCGCCGCCGCCGCCGCCG - GSPT1 G11_G16del 0 0 0.003 0 0 0 0 1 0 0 0 0 335978 chr16 1435251 1435263 GGGCACGGGCGGG - UNKL P404Sfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 335979 chr16 2141806 2141806 T C rs754396996 PKD1 Nonsynonymous SNV Q3837R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 335980 chr16 27231992 27231992 T A rs147629899 KDM8 Nonsynonymous SNV Y436N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.91 335981 chr16 31497553 31497553 C T rs376135738 SLC5A2 Synonymous SNV S177S 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 16.33 335982 chr16 707153 707153 C G rs144102013 WDR90 Nonsynonymous SNV S802C 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 335983 chr16 88498883 88498883 G A ZNF469 Nonsynonymous SNV A1669T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 335984 chr17 10417001 10417001 T C rs374736351 MYH1 Synonymous SNV K249K 0 0 0.003 0 0 0 0 1 0 0 0 0 9.443 335985 chr17 10608390 10608390 T C rs780987054 ADPRM Synonymous SNV L49L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.133 335986 chr17 19582182 19582182 C T SLC47A2 Synonymous SNV T506T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.21 335987 chr17 2597237 2597237 C T rs745317633 CLUH Nonsynonymous SNV R1063H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 335988 chr17 2599500 2599500 G A rs759637362 CLUH Synonymous SNV L782L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.73 335989 chr17 29761098 29761098 G A rs73988056 RAB11FIP4 Synonymous SNV G98G 0 0 0.003 0 0 0 0 1 0 0 0 0 2.308 335990 chr17 29850608 29850608 C T rs116130732 RAB11FIP4 Synonymous SNV C76C 0 0 0.003 0 0 0 0 1 0 0 0 0 13.94 335991 chr17 41603903 41603903 A G rs753151171 DHX8 Synonymous SNV S1161S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.473 335992 chr17 4461861 4461861 T G rs780512388 GGT6 Nonsynonymous SNV T279P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 335993 chr17 5462818 5462818 A G NLRP1 Nonsynonymous SNV S400P 0 0 0.003 0 0 0 0 1 0 0 0 0 25 335994 chr17 5462819 5462819 C A rs573778083 NLRP1 Synonymous SNV L399L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 335995 chr17 5462820 5462820 A G NLRP1 Nonsynonymous SNV L399P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 335996 chr17 57774872 57774872 T G PTRH2 Nonsynonymous SNV Q156H 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 335997 chr17 76567059 76567059 C T rs757314578 DNAH17 Nonsynonymous SNV E297K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 335998 chr17 78064015 78064015 G T CCDC40 Nonsynonymous SNV K970N 0 0 0.007 0 0 0 0 2 0 0 1 0 1.467 335999 chr18 21083647 21083647 C T RMC1 Nonsynonymous SNV P22L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 336000 chr18 47801975 47801975 G A MBD1 Synonymous SNV L214L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.966 336001 chr19 10793863 10793863 C T rs746888696 ILF3 Synonymous SNV N537N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.21 336002 chr19 1270227 1270227 G C rs374779923 CIRBP-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 2.47 336003 chr19 15491050 15491050 T C rs942500961 AKAP8L Synonymous SNV P547P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.26 336004 chr19 17322769 17322769 G A rs377015078 MYO9B Nonsynonymous SNV A2042T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.53 336005 chr19 17405510 17405510 C T rs145795042 ABHD8 Synonymous SNV S302S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.85 336006 chr19 1917777 1917777 T C rs745345583 SCAMP4 Nonsynonymous SNV V31A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 336007 chr19 2431809 2431809 C A rs145444042 LMNB2 Nonsynonymous SNV R561L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.9 336008 chr19 3178994 3178994 G A rs371947950 S1PR4 Synonymous SNV L68L 0 0 0.003 0 0 0 0 1 0 0 0 0 5.936 336009 chr19 36269406 36269406 G A ARHGAP33 Nonsynonymous SNV R104H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336010 chr19 47969244 47969244 G A rs146616274 SLC8A2 Synonymous SNV S139S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.869 336011 chr19 47995312 47995312 G A rs200232586 NAPA Nonsynonymous SNV A209V 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336012 chr19 49360698 49360698 C T rs200243212 PLEKHA4 Nonsynonymous SNV R343Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 336013 chr19 49416419 49416419 G A rs768095731 NUCB1 Nonsynonymous SNV R211H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 336014 chr19 49983704 49983704 C T rs368101323 FLT3LG Nonsynonymous SNV R211W 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 336015 chr19 51171072 51171072 G A SHANK1 Nonsynonymous SNV S1382L 0 0 0.003 0 0 0 0 1 0 0 0 0 17.18 336016 chr19 52084767 52084767 G A ZNF175 Nonsynonymous SNV V66M 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 336017 chr19 5785733 5785733 G A rs200545142 DUS3L Synonymous SNV S302S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.35 336018 chr19 622832 622832 T C rs141490879 POLRMT Nonsynonymous SNV M482V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.096 336019 chr19 694920 694920 A C rs902783997 PRSS57 Nonsynonymous SNV S43A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 336020 chr1 10428548 10428548 T A rs757529397 KIF1B Synonymous SNV T1546T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.88 336021 chr1 10683166 10683166 G A rs74052157 PEX14 Nonsynonymous SNV V159M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 24.4 336022 chr1 10702941 10702941 G A rs115628512 CASZ1 Synonymous SNV P1379P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.57 336023 chr1 10707929 10707929 C T rs61736954 CASZ1 Synonymous SNV S1142S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.64 336024 chr1 1336051 1336051 C T rs191689759 MRPL20-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.86 336025 chr1 152382912 152382912 C G CRNN Nonsynonymous SNV E216Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.102 336026 chr1 152383015 152383015 C T rs41267182 CRNN Synonymous SNV P181P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.2 336027 chr1 153314170 153314170 - T rs559435719 PGLYRP4 Stop gain Y186* 0 0 0.003 0 0 0 0 1 0 0 0 0 336028 chr1 154562384 154562384 G A ADAR Synonymous SNV T544T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.51 336029 chr1 154956338 154956338 C T FLAD1 Synonymous SNV P56P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.16 336030 chr1 155735938 155735938 T A rs748233150 GON4L Nonsynonymous SNV K1109M 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 336031 chr1 155735940 155735940 A G rs769927652 GON4L Synonymous SNV S1108S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.02 336032 chr1 155735945 155735945 G A rs773381402 GON4L Nonsynonymous SNV P1107S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.17 336033 chr1 155735950 155735950 A G rs774683992 GON4L Nonsynonymous SNV L1105P 0 0 0.003 0 0 0 0 1 0 0 0 0 22 336034 chr1 155735960 155735960 G T rs376638282 GON4L Nonsynonymous SNV L1102M 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 336035 chr1 156642804 156642804 G T rs372020167 NES Synonymous SNV P392P 0 0 0.003 0 0 0 0 1 0 0 0 0 11.58 336036 chr1 158813091 158813091 A G MNDA Synonymous SNV Q96Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.021 336037 chr1 160144041 160144041 G A rs749734131 ATP1A4 Nonsynonymous SNV C711Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 336038 chr1 161047419 161047419 G A rs267606992 NECTIN4 Nonsynonymous SNV T185M 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 29.9 336039 chr1 165677999 165677999 C A rs11579160 LOC440700 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 336040 chr1 180914539 180914539 G A rs201859148 KIAA1614 Nonsynonymous SNV G1130S 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336041 chr1 201297929 201297929 G A rs763900804 PKP1 Nonsynonymous SNV A716T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.02 336042 chr1 206757766 206757766 C T rs781983120 RASSF5 Synonymous SNV L93L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.18 336043 chr1 208212303 208212303 G A PLXNA2 Synonymous SNV N1509N 0 0 0.003 0 0 0 0 1 0 0 0 0 12.35 336044 chr1 209791828 209791828 G A rs146501772 LAMB3 Nonsynonymous SNV R960C 0 0 0.003 0 0 0 0 1 0 0 0 0 31 336045 chr1 214830526 214830526 A C rs140887866 CENPF Synonymous SNV P2912P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.813 336046 chr1 22913051 22913051 C T rs638524 EPHA8 Nonsynonymous SNV A301V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 336047 chr1 231858321 231858321 C T rs764879895 DISC1 Stop gain R362X 0 0 0.003 0 0 0 0 1 0 0 0 0 5.52 336048 chr1 234742991 234742991 C T rs777343610 IRF2BP2 Synonymous SNV G536G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.28 336049 chr1 23520407 23520407 G A rs111570664 HTR1D Synonymous SNV H102H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.359 336050 chr1 23782485 23782485 G A rs375900499 ASAP3 Synonymous SNV A79A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.67 336051 chr1 24389676 24389676 C T rs760649650 MYOM3 Nonsynonymous SNV R1237Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25 336052 chr1 247264453 247264453 C G ZNF669 Nonsynonymous SNV R120S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 336053 chr1 247902000 247902000 C T OR14K1 Synonymous SNV L28L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.253 336054 chr1 26648745 26648745 C T rs374694318 CRYBG2 Nonsynonymous SNV E1603K 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336055 chr1 33998789 33998789 G A rs372319169 CSMD2 Synonymous SNV N3200N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 336056 chr1 3416248 3416248 G A rs559268389 MEGF6 Nonsynonymous SNV R957C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 336057 chr1 36209066 36209066 T C rs780724700 CLSPN Nonsynonymous SNV D947G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 336058 chr1 37325577 37325577 G A rs115323841 GRIK3 Synonymous SNV G276G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.193 336059 chr1 46295200 46295200 C T MAST2 Stop gain R139X 0 0 0.003 0 0 0 0 1 0 0 0 0 39 336060 chr1 47133909 47133909 A - ATPAF1 V52Gfs*106 0 0 0.003 0 0 0 0 1 0 0 0 0 336061 chr20 13866013 13866013 C T rs201618416 SEL1L2 Nonsynonymous SNV G313S 0 0 0.003 0 0 0 0 1 0 0 0 0 30 336062 chr20 14306898 14306898 T A rs769008665 FLRT3 Nonsynonymous SNV T419S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.832 336063 chr20 17602533 17602533 A T RRBP1 Synonymous SNV A1069A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.018 336064 chr20 31189342 31189342 C T rs904455614 NOL4L-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 4.837 336065 chr20 34806846 34806846 C A EPB41L1 Nonsynonymous SNV P671T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.55 336066 chr20 39977798 39977798 - C rs554789813 LPIN3 Frameshift insertion Q212Pfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 336067 chr20 40049298 40049298 G A CHD6 Nonsynonymous SNV H1993Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.895 336068 chr20 42885807 42885807 C T rs141524592 GDAP1L1 Synonymous SNV I65I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.49 336069 chr20 44983520 44983520 C A SLC35C2 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 336070 chr20 46279866 46279866 - GCAG rs770879424 NCOA3 Frameshift insertion Q1264Afs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 336071 chr20 49458308 49458308 C T rs774255921 BCAS4 Synonymous SNV F120F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.13 336072 chr20 49575380 49575380 A G MOCS3 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 336073 chr20 60883770 60883770 G A rs775536014 ADRM1 Nonsynonymous SNV D354N 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 336074 chr21 34399863 34399863 C A OLIG2 Synonymous SNV A231A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.757 336075 chr21 38570212 38570212 T C rs148666458 TTC3 Synonymous SNV Y1190Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 336076 chr21 38593036 38593036 T C DSCR9 0 0 0.003 0 0 0 0 1 0 0 0 0 5.933 336077 chr21 41151154 41151154 - GCTGCT rs530090000 IGSF5 C290_R291insCC 0 0 0.003 0 0 0 0 1 0 0 0 0 336078 chr21 43645844 43645844 G A rs778521666 ABCG1 Nonsynonymous SNV V36M 0 0 0.003 0 0 0 0 1 0 0 0 0 15.52 336079 chr21 43824076 43824076 C A rs146186753 UBASH3A Nonsynonymous SNV L8I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336080 chr21 47722446 47722446 A G C21orf58 Synonymous SNV L150L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 336081 chr22 18070732 18070732 A T LOC101929372, SLC25A18 Nonsynonymous SNV V18D 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 336082 chr22 18609291 18609291 G A rs1057522263 TUBA8 Synonymous SNV V116V 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.051 336083 chr22 21990825 21990825 C T rs148511964 CCDC116 Synonymous SNV A436A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.99 336084 chr22 45959065 45959065 C T rs370127098 FBLN1 Synonymous SNV T657T 0 0 0.003 0 0 0 0 1 0 0 0 0 17.33 336085 chr22 50716600 50716602 CTT - PLXNB2 K1611del 0 0 0.003 0 0 0 0 1 0 0 0 0 336086 chr2 108917379 108917379 A G SULT1C2 Synonymous SNV E121E 0 0 0.003 0 0 0 0 1 0 0 0 0 3.589 336087 chr2 127827580 127827580 G A rs144136512 BIN1 Synonymous SNV P134P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 13.18 336088 chr2 174223544 174223544 T C rs759103879 CDCA7 Synonymous SNV A42A 0 0 0.003 0 0 0 0 1 0 0 0 0 3.643 336089 chr2 175613319 175613319 C T rs781158981 CHRNA1 Nonsynonymous SNV E411K 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 336090 chr2 179325992 179325992 G C rs746778669 PJVK Nonsynonymous SNV R352S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 336091 chr2 179453267 179453267 A G rs575313522 TTN Nonsynonymous SNV I11997T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 19.63 336092 chr2 179480494 179480494 G C rs747917712 TTN Nonsynonymous SNV L7047V 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.26 336093 chr2 179529457 179529457 T G rs113231696 TTN Nonsynonymous SNV E12042D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 10.69 336094 chr2 179588996 179588996 C T rs72648962 TTN Nonsynonymous SNV D5792N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 20.8 336095 chr2 179606241 179606241 G C rs55853696 TTN Nonsynonymous SNV L3544V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 6.57 336096 chr2 179629529 179629529 G A rs397517792 TTN Nonsynonymous SNV P3192L 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 336097 chr2 179642564 179642564 T C rs719202 TTN Synonymous SNV S1403S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 14.65 336098 chr2 208866194 208866194 T C rs774113611 PLEKHM3 Nonsynonymous SNV N57S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.014 336099 chr2 210860211 210860211 T A rs201312129 UNC80 Nonsynonymous SNV H3199Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 12.07 336100 chr2 235951340 235951340 A G rs761500398 SH3BP4 Nonsynonymous SNV T643A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.334 336101 chr2 26798937 26798937 T C FAM166C Nonsynonymous SNV L81P 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 336102 chr2 32693638 32693638 T C BIRC6 Nonsynonymous SNV S1972P 0 0 0.003 0 0 0 0 1 0 0 0 0 25.8 336103 chr2 97361490 97361490 G A rs376625211 FER1L5 Synonymous SNV T1302T 0 0 0.003 0 0 0 0 1 0 0 0 0 4.461 336104 chr3 121353086 121353086 G A rs147706872 HCLS1 Nonsynonymous SNV P254S 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 336105 chr3 151156074 151156074 C A IGSF10 Nonsynonymous SNV R119M 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336106 chr3 15219646 15219646 T A rs550246892 COL6A4P1 0 0 0.003 0 0 0 0 1 0 0 0 0 1.463 336107 chr3 169565912 169565912 G T rs202118245 LRRC31 Synonymous SNV L385L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.216 336108 chr3 179131387 179131387 A T GNB4 Nonsynonymous SNV I171N 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336109 chr3 193360580 193360580 T C rs372782168 OPA1 Synonymous SNV H301H 0 0 0.003 0 0 0 0 1 0 0 0 0 2.891 336110 chr3 36873936 36873936 T C rs951295951 TRANK1 Nonsynonymous SNV I2336V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336111 chr3 46003862 46003862 C T rs747684269 FYCO1 Nonsynonymous SNV A1098T 0 0 0.003 0 0 0 0 1 0 0 0 0 26.4 336112 chr3 46450500 46450500 C T rs372135871 CCRL2 Synonymous SNV Y322Y 0 0 0.003 0 0 0 0 1 0 0 0 0 3.457 336113 chr3 49135513 49135513 C T QARS Nonsynonymous SNV C719Y 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 336114 chr3 58110191 58110191 C T rs62621997 FLNB Nonsynonymous SNV A1286V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 26.4 336115 chr3 8809685 8809685 C A rs536257537 OXTR Synonymous SNV A63A 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 336116 chr3 9807645 9807645 C T OGG1 Nonsynonymous SNV P317L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.263 336117 chr3 9986218 9986218 A G CRELD1 Synonymous SNV S406S 0 0 0.003 0 0 0 0 1 0 0 0 0 20.8 336118 chr4 100470483 100470483 G A TRMT10A Nonsynonymous SNV T261I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 336119 chr4 114277516 114277516 G A rs369041815 ANK2 Nonsynonymous SNV R2581K 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.5 336120 chr4 1244218 1244218 G A rs79407053 CTBP1-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 1.755 336121 chr4 126241207 126241207 T A rs372590258 FAT4 Nonsynonymous SNV F1214Y 0 0 0.003 0 0 0 0 1 0 0 0 0 9.923 336122 chr4 1399985 1399985 G A NKX1-1 Synonymous SNV F82F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.974 336123 chr4 152025029 152025029 C A SNORD73A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.267 336124 chr4 16008198 16008198 C T rs772135830 PROM1 Nonsynonymous SNV G464S 0 0 0.003 0 0 0 0 1 0 0 0 0 29.8 336125 chr4 187209711 187209711 T C F11 Synonymous SNV V607V 0 0 0.003 0 0 0 0 1 0 0 0 0 13.13 336126 chr4 38776788 38776788 A G rs145711969 TLR10 Nonsynonymous SNV S142P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.887 336127 chr4 38945116 38945116 C T FAM114A1 Synonymous SNV L417L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 336128 chr4 47625753 47625753 C T rs75141391 CORIN Nonsynonymous SNV R688H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 24 336129 chr4 76813078 76813078 G A PPEF2 Synonymous SNV L37L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.54 336130 chr4 7684579 7684579 G T rs144615557 SORCS2 Nonsynonymous SNV S484I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 336131 chr4 79437035 79437035 C G rs367736604 FRAS1 Nonsynonymous SNV S3419R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.19 336132 chr4 8098870 8098870 C A rs199762433 ABLIM2 Synonymous SNV L98L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.41 336133 chr5 118525472 118525472 A C rs146331228 DMXL1 Nonsynonymous SNV E2402A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 336134 chr5 137593491 137593491 C A GFRA3 Nonsynonymous SNV A208S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.967 336135 chr5 140725117 140725117 C - rs771671580 PCDHGA3 S506Lfs*12 0 0 0.003 0 0 0 0 1 0 0 0 0 336136 chr5 140769789 140769789 G A rs758225583 PCDHGB4 Nonsynonymous SNV G780S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.025 336137 chr5 169143261 169143261 G T rs368933125 DOCK2 Nonsynonymous SNV E662D 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336138 chr5 176728752 176728752 G A RAB24 Nonsynonymous SNV H202Y 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 336139 chr5 177031218 177031218 C T B4GALT7 Nonsynonymous SNV S30F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.85 336140 chr5 38337654 38337654 G T rs376594419 EGFLAM Nonsynonymous SNV G44C 0 0 0.003 0 0 0 0 1 0 0 0 0 24 336141 chr5 7832113 7832113 C T rs768351636 C5orf49 Synonymous SNV T98T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.16 336142 chr5 89971189 89971189 A G ADGRV1 Nonsynonymous SNV Q1747R 0 0 0.003 0 0 0 0 1 0 0 0 0 23 336143 chr6 106553127 106553127 C T PRDM1 Synonymous SNV G230G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.007 336144 chr6 127608325 127608325 C T rs151195633 RNF146 Synonymous SNV T189T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.432 336145 chr6 130762577 130762577 C A TMEM200A Nonsynonymous SNV S337Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 336146 chr6 41754575 41754575 T C PRICKLE4 Nonsynonymous SNV L288P 0 0 0.003 0 0 0 0 1 0 0 0 0 9.064 336147 chr6 43126559 43126559 C G rs767564052 PTK7 Nonsynonymous SNV A779G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336148 chr6 43581577 43581577 A G rs768172372 POLH Synonymous SNV K351K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.038 336149 chr7 112127091 112127091 G A rs143265336 LSMEM1 Nonsynonymous SNV V81M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.4 336150 chr7 112724192 112724192 G T rs780722391 GPR85 Synonymous SNV L195L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.123 336151 chr7 128481386 128481386 T G rs576402053 FLNC Nonsynonymous SNV L659R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 10.1 336152 chr7 140395555 140395556 TT - rs780333972 NDUFB2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 336153 chr7 148702264 148702264 G A PDIA4 Synonymous SNV T498T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.731 336154 chr7 148987080 148987080 A G rs532449128 LOC155060 0 0 0.003 0 0 0 0 1 0 0 0 0 3.933 336155 chr7 154736069 154736069 C T PAXIP1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.754 336156 chr7 155151194 155151194 G A rs12719961 BLACE 0 0 0.007 0 0 0 0 2 0 0 1 0 6.48 336157 chr7 36194251 36194251 A G rs139837122 EEPD1 Synonymous SNV S106S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 336158 chr7 42064899 42064899 A G rs750416636 GLI3 Synonymous SNV D440D 0 0 0.003 0 0 0 0 1 0 0 0 0 7.42 336159 chr7 4824601 4824601 C T rs756733130 AP5Z1 Nonsynonymous SNV R129C 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336160 chr7 64126664 64126664 G A ZNF107 0 0 0.003 0 0 0 0 1 0 0 0 0 10.26 336161 chr7 97944837 97944837 G A rs773272850 BAIAP2L1 Nonsynonymous SNV R192C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336162 chr8 118159205 118159205 A G rs763078920 SLC30A8 Synonymous SNV Q28Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.421 336163 chr8 119938927 119938927 C G rs766836970 TNFRSF11B Nonsynonymous SNV R208T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.2 336164 chr8 134233059 134233059 C T rs202057063 CCN4 Synonymous SNV T195T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.82 336165 chr8 144658855 144658855 C T rs770543578 NAPRT Nonsynonymous SNV R53Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.96 336166 chr8 145150833 145150833 T C rs144257411 CYC1 Nonsynonymous SNV M76T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.286 336167 chr8 17491637 17491637 G A PDGFRL Nonsynonymous SNV S285N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.326 336168 chr8 1950060 1950060 C A KBTBD11 Synonymous SNV A234A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.59 336169 chr8 21827057 21827057 C G XPO7 Nonsynonymous SNV P77A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.27 336170 chr8 23560517 23560517 - T NKX2-6 Frameshift insertion S118Kfs*185 0 0 0.003 0 0 0 0 1 0 0 0 0 336171 chr8 42015469 42015469 G A AP3M2 Nonsynonymous SNV G95E 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 336172 chr8 53853072 53853072 C G rs866948227 NPBWR1 Nonsynonymous SNV A202G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 336173 chr9 113562740 113562740 C A rs201616041 MUSK Synonymous SNV P274P 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 7.324 336174 chr9 115760195 115760195 A C rs200439640 ZNF883 Nonsynonymous SNV H115Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 336175 chr9 130152986 130152986 G A rs148092637 GARNL3 Nonsynonymous SNV R937Q 0 0 0.003 0 0 0 0 1 0 0 0 0 19.92 336176 chr9 136307618 136307618 C T rs782806565 ADAMTS13 Synonymous SNV A689A 0 0 0.003 0 0 0 0 1 0 0 0 0 16.34 336177 chr9 136401845 136401845 G C rs200378599 ADAMTSL2 Nonsynonymous SNV R4T 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 2.782 336178 chr9 140729356 140729356 A C rs398124408 EHMT1 Nonsynonymous SNV E1276A 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 26.7 336179 chr9 140785260 140785260 G A rs56134014 LOC100133077 0 0 0.003 0 0 0 0 1 0 0 0 0 0.961 336180 chr9 140935093 140935093 G A rs560603601 LOC101928786 0 0 0.003 0 0 0 0 1 0 0 0 0 0.183 336181 chr9 36170940 36170940 G A rs200615099 CCIN Nonsynonymous SNV V481M 0 0 0.003 0 0 0 0 1 0 0 0 0 17.02 336182 chr9 712418 712418 G A rs370250575 KANK1 Nonsynonymous SNV C393Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 25.6 336183 chr9 712968 712968 G T rs201557720 KANK1 Synonymous SNV R576R 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.325 336184 chr9 73424994 73424994 T G rs201632779 MIR204 0 0 0.003 0 0 0 0 1 0 0 0 0 14.16 336185 chr9 97869474 97869474 C T rs79722116 FANCC Synonymous SNV T469T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 10.89 336186 chr10 124697302 124697302 T G rs774944097 C10orf88 Nonsynonymous SNV Q341P 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 336187 chr10 15197316 15197316 C G rs749788845 PPIAP30 0 0 0.003 0 0 0 0 1 0 0 0 0 6.504 336188 chr10 27382639 27382639 T C rs79092403 ANKRD26 Nonsynonymous SNV N111S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 0.001 336189 chr10 27964259 27964259 C T rs138968448 MKX Nonsynonymous SNV G320R 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336190 chr10 50951006 50951006 C T OGDHL Nonsynonymous SNV R418Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 336191 chr10 5926019 5926019 G A rs754222541 ANKRD16 Synonymous SNV Y200Y 0 0 0.003 0 0 0 0 1 0 0 0 0 1.446 336192 chr10 68138987 68138987 G A rs61737718 CTNNA3 Nonsynonymous SNV T552M 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 22.3 336193 chr10 70694035 70694035 A G rs751838663 DDX50 Synonymous SNV K440K 0 0 0.003 0 0 0 0 1 0 0 0 0 3.777 336194 chr10 75227324 75227324 A G rs765763999 PPP3CB Synonymous SNV F365F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.149 336195 chr11 118376554 118376554 C T rs201447376 KMT2A Nonsynonymous SNV A3316V 0 0 0.003 0 0 0 0 1 0 0 0 0 14.98 336196 chr11 35463225 35463225 G C rs188272517 PAMR1 Nonsynonymous SNV N168K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 336197 chr11 4406819 4406819 C T rs759240021 TRIM21 Nonsynonymous SNV S375N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.088 336198 chr11 57076280 57076280 T C rs895392894 TNKS1BP1 Nonsynonymous SNV K1302R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.007 336199 chr11 62569447 62569447 G A rs779918280 NXF1 Synonymous SNV V175V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.97 336200 chr11 64891972 64891972 A G rs201353425 MRPL49 0 0 0.003 0 0 0 0 1 0 0 0 0 23 336201 chr11 66293652 66293652 T G rs113624356 BBS1 Nonsynonymous SNV M390R 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 28.2 336202 chr11 66626175 66626175 G A rs749555267 LRFN4 Synonymous SNV R320R 0 0 0.003 0 0 0 0 1 0 0 0 0 1.673 336203 chr11 67395796 67395796 C G rs138977536 NUDT8 Nonsynonymous SNV E135Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336204 chr11 76890859 76890859 C T rs781926175 MYO7A Nonsynonymous SNV R816C 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 336205 chr11 94528296 94528296 G A AMOTL1 Nonsynonymous SNV E57K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336206 chr12 102589103 102589103 T C PARPBP Nonsynonymous SNV L345S 0 0 0.007 0 0 0 0 2 0 0 1 0 23.5 336207 chr12 119961570 119961570 C T rs755829141 CCDC60 Synonymous SNV S392S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.99 336208 chr12 120613624 120613624 G A rs368772341 GCN1 Nonsynonymous SNV R323W 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336209 chr12 122242660 122242660 C A rs553235589 SETD1B Nonsynonymous SNV P6H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336210 chr12 122287697 122287697 C T HPD 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 336211 chr12 124090516 124090516 C T rs758447593 DDX55 Synonymous SNV V49V 0 0 0.003 0 0 0 0 1 0 0 0 0 16.65 336212 chr12 318946 318946 G A rs377046544 SLC6A12 Synonymous SNV N69N 0 0 0.003 0 0 0 0 1 0 0 0 0 9.984 336213 chr12 50050889 50050889 A G FMNL3 Synonymous SNV C179C 0 0 0.003 0 0 0 0 1 0 0 0 0 8.37 336214 chr12 52282860 52282860 A G rs927356410 ANKRD33 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 25 336215 chr12 57571235 57571235 G A LRP1 Nonsynonymous SNV A1408T 0 0 0.003 0 0 0 0 1 0 0 0 0 25.7 336216 chr12 60168466 60168466 C T rs201840996 SLC16A7 Synonymous SNV P130P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.72 336217 chr12 6483851 6483851 G A rs13306619 SCNN1A Synonymous SNV P92P 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.25 336218 chr12 6993285 6993285 G A rs377372804 RPL13P5 0 0 0.003 0 0 0 0 1 0 0 0 0 5.595 336219 chr12 6994305 6994305 T G rs61750890 DSTNP2 0 0 0.003 0 0 0 0 1 0 0 0 0 5.659 336220 chr12 81111341 81111341 A G MYF5 Nonsynonymous SNV M167V 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 336221 chr12 89861438 89861438 A G rs752644030 POC1B Nonsynonymous SNV S237P 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 336222 chr13 41885700 41885700 C T rs760583080 NAA16 Synonymous SNV N12N 0 0 0.003 0 0 0 0 1 0 0 0 0 14.02 336223 chr14 105858060 105858060 C T PACS2 Nonsynonymous SNV P648S 0 0 0.007 0 0 0 0 2 0 0 1 0 24.6 336224 chr14 23465471 23465471 C T rs780162600 C14orf93 Nonsynonymous SNV D202N 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 336225 chr14 24711153 24711153 C G TINF2 Synonymous SNV L80L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.866 336226 chr14 36768397 36768397 C T rs763938430 MBIP 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 336227 chr14 37737982 37737982 G A MIPOL1 Nonsynonymous SNV R124K 0 0 0.003 0 0 0 0 1 0 0 0 0 18.88 336228 chr14 38091534 38091534 C T rs893940818 TTC6 Nonsynonymous SNV L105F 0 0 0.003 0 0 0 0 1 0 0 0 0 10.78 336229 chr14 39703323 39703323 C T rs748647367 MIA2 Nonsynonymous SNV A2V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.15 336230 chr14 51352357 51352357 T A rs770647941 ABHD12B Nonsynonymous SNV V94D 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336231 chr14 70171452 70171452 C T rs193260720 SUSD6 Nonsynonymous SNV H151Y 0 0 0.003 0 0 0 0 1 0 0 0 0 24.7 336232 chr14 71444340 71444340 G T PCNX1 Nonsynonymous SNV R429M 0 0 0.003 0 0 0 0 1 0 0 0 0 0.273 336233 chr14 91760664 91760664 T C CCDC88C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 336234 chr15 42529665 42529665 G A rs149080105 TMEM87A Nonsynonymous SNV A217V 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336235 chr15 42691759 42691759 G A rs372450879 CAPN3 Synonymous SNV L373L 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 16.64 336236 chr15 42977659 42977676 CCCCATTGTGAGCTCCAG - rs767293399 STARD9 L1299_E1304del 0 0 0.003 0 0 0 0 1 0 0 0 0 336237 chr15 43738608 43738608 T C rs140165556 TP53BP1 Nonsynonymous SNV E1006G 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 336238 chr15 44068716 44068716 G A rs190878484 ELL3 Synonymous SNV G53G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.42 336239 chr15 68119021 68119021 C A rs760756846 SKOR1 Synonymous SNV G285G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.95 336240 chr15 75644452 75644452 G T rs764432590 NEIL1 Nonsynonymous SNV R231S 0 0 0.003 0 0 0 0 1 0 0 0 0 21.9 336241 chr15 82387960 82387960 T C LINC01583 0 0 0.003 0 0 0 0 1 0 0 0 0 0.728 336242 chr15 85147272 85147272 C T rs369551871 ZSCAN2 Synonymous SNV D38D 0 0 0.003 0 0 0 0 1 0 0 0 0 13.69 336243 chr15 85186836 85186836 A G rs548886624 WDR73 Synonymous SNV D334D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.246 336244 chr15 92690348 92690348 C T rs78550975 SLCO3A1 Synonymous SNV I549I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.79 336245 chr16 1391357 1391357 C T rs142578030 BAIAP3 Nonsynonymous SNV R200C 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 336246 chr16 1817179 1817179 C A rs762893896 MAPK8IP3 Nonsynonymous SNV L1033I 0 0 0.003 0 0 0 0 1 0 0 0 0 25.4 336247 chr16 2027525 2027525 G A rs1022273721 TBL3 Nonsynonymous SNV G585S 0 0 0.003 0 0 0 0 1 0 0 0 0 26 336248 chr16 2223189 2223189 G A rs138558486 TRAF7 Synonymous SNV T267T 0 0 0.003 0 0 0 0 1 0 0 0 0 6.996 336249 chr16 30975522 30975522 C T SETD1A Synonymous SNV F249F 0 0 0.003 0 0 0 0 1 0 0 0 0 15.37 336250 chr16 31235581 31235581 C T TRIM72 Synonymous SNV C313C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.39 336251 chr16 3452111 3452111 A C ZNF174 Nonsynonymous SNV Q36P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.004 336252 chr16 3613642 3613642 G A rs772605595 NLRC3 Synonymous SNV G432G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.01 336253 chr16 3641275 3641275 C T SLX4 Synonymous SNV Q788Q 0 0 0.003 0 0 0 0 1 0 0 0 0 1.071 336254 chr16 67168112 67168112 T C C16orf70 Synonymous SNV H136H 0 0 0.003 0 0 0 0 1 0 0 0 0 4.663 336255 chr16 69221510 69221510 C T SNTB2 Synonymous SNV P147P 0 0 0.003 0 0 0 0 1 0 0 0 0 17.15 336256 chr16 70305755 70305755 G A rs150080663 AARS Synonymous SNV A200A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 10.38 336257 chr16 71692239 71692239 T A PHLPP2 Nonsynonymous SNV T659S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 336258 chr17 1540007 1540007 T C rs956195396 SCARF1 Nonsynonymous SNV K531R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.005 336259 chr17 16527369 16527369 T C rs780837202 ZNF624 Synonymous SNV K277K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 336260 chr17 20107874 20107874 G A rs781301820 SPECC1 Nonsynonymous SNV R90Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.1 336261 chr17 2381161 2381161 G A rs202203909 METTL16 Synonymous SNV P49P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.26 336262 chr17 26800779 26800779 G A rs782243722 SLC13A2 Nonsynonymous SNV V17M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 336263 chr17 27920705 27920705 G A rs372428129 ANKRD13B Synonymous SNV V22V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.882 336264 chr17 33497208 33497208 C T rs531660473 UNC45B Synonymous SNV D541D 0 0 0.003 0 0 0 0 1 0 0 0 0 18.17 336265 chr17 3785556 3785556 C T rs754695613 CAMKK1 Nonsynonymous SNV R265H 0 0 0.003 0 0 0 0 1 0 0 0 0 6.161 336266 chr17 38927462 38927462 G A rs113285472 KRT26 Synonymous SNV A156A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.171 336267 chr17 39538524 39538524 C T rs61747622 KRT34 Nonsynonymous SNV C34Y 0 0 0.003 0 0 0 0 1 0 0 0 0 11.5 336268 chr17 39623282 39623282 G A rs117304287 KRT32 Nonsynonymous SNV T99I 0 0 0.003 0 0 0 0 1 0 0 0 0 15.36 336269 chr17 5347730 5347730 G A DHX33 Nonsynonymous SNV T467I 0 0 0.003 0 0 0 0 1 0 0 0 0 25 336270 chr17 6719251 6719251 G A rs149847520 TEKT1 Synonymous SNV H129H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.192 336271 chr17 67283807 67283807 T C rs766363836 ABCA5 Nonsynonymous SNV N663S 0 0 0.003 0 0 0 0 1 0 0 0 0 3.702 336272 chr17 7286402 7286402 C T rs769701142 TNK1 Nonsynonymous SNV R53W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336273 chr17 79278591 79278591 C T rs138273096 LINC00482 0 0 0.003 0 0 0 0 1 0 0 0 0 4.301 336274 chr17 79984806 79984806 C T rs775082996 LRRC45 Synonymous SNV L231L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.325 336275 chr17 80196722 80196722 C T rs537652038 SLC16A3 Nonsynonymous SNV A423V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.31 336276 chr17 80543920 80543920 G A rs775896823 FOXK2 Nonsynonymous SNV V474I 0 0 0.003 0 0 0 0 1 0 0 0 0 23 336277 chr18 5291762 5291762 T G rs751432738 ZBTB14 Nonsynonymous SNV N149H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.15 336278 chr18 71749196 71749196 G T FBXO15 Stop gain S410X 0 0 0.003 0 0 0 0 1 0 0 0 0 35 336279 chr19 11332545 11332545 G A rs375012919 DOCK6 Nonsynonymous SNV R1178W 0 0 0.003 0 0 0 0 1 0 0 0 0 27 336280 chr19 11448018 11448018 C T rs144965675 RAB3D Nonsynonymous SNV D20N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 336281 chr19 12246693 12246693 C T ZNF20 Synonymous SNV E7E 0 0 0.003 0 0 0 0 1 0 0 0 0 9.611 336282 chr19 12769101 12769101 G A rs762375074 MAN2B1 Synonymous SNV T389T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 16 336283 chr19 13041106 13041106 C A rs200098140 FARSA Nonsynonymous SNV G145V 0 0 0.003 0 0 0 0 1 0 0 0 0 11.32 336284 chr19 13885481 13885481 C A rs200993817 C19orf53 Nonsynonymous SNV P38H 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336285 chr19 19368807 19368807 C T rs771786704 HAPLN4 Nonsynonymous SNV R343K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.86 336286 chr19 24115817 24115817 T C rs773393152 ZNF726 Nonsynonymous SNV L300P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336287 chr19 30503415 30503415 T C rs145788765 URI1 Synonymous SNV L450L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.038 336288 chr19 34917013 34917013 A G PDCD2L Synonymous SNV L353L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.222 336289 chr19 36387992 36387992 G A rs776899078 NFKBID Nonsynonymous SNV T7I 0 0 0.003 0 0 0 0 1 0 0 0 0 2.225 336290 chr19 3753848 3753848 C T rs570833227 APBA3 Nonsynonymous SNV R309Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336291 chr19 39409120 39409120 G C rs144697966 SARS2 Nonsynonymous SNV I286M 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 336292 chr19 40487194 40487194 G A rs781266201 PSMC4 Synonymous SNV E413E 0 0 0.003 0 0 0 0 1 0 0 0 0 11.52 336293 chr19 42793533 42793533 G A CIC Synonymous SNV E445E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.588 336294 chr19 46289709 46289709 G A DMWD Synonymous SNV L349L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.53 336295 chr19 52222509 52222509 C A HAS1 Nonsynonymous SNV V217F 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336296 chr19 8651750 8651750 C G rs377640088 ADAMTS10 Nonsynonymous SNV G217A 0 0 0.003 0 0 0 0 1 0 0 0 0 27 336297 chr19 9061008 9061008 G A rs138593375 MUC16 Nonsynonymous SNV P8813L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.06 336298 chr19 9090145 9090145 G A MUC16 Nonsynonymous SNV P557L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 336299 chr1 10713867 10713867 C T rs754565740 CASZ1 Synonymous SNV A749A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 336300 chr1 144931472 144931472 C T PDE4DIP Synonymous SNV L79L 0 0 0.003 0 0 0 0 1 0 0 0 0 14.1 336301 chr1 150931660 150931660 T C rs139786773 SETDB1 Synonymous SNV Y779Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.974 336302 chr1 151509723 151509723 C T rs146438873 CGN Synonymous SNV N1171N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.58 336303 chr1 153580035 153580035 T C rs765748739 S100A16 Nonsynonymous SNV E96G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 336304 chr1 156351732 156351732 A C RHBG Nonsynonymous SNV T326P 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 336305 chr1 160106150 160106150 C T rs771208383 ATP1A2 Synonymous SNV Y851Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.14 336306 chr1 167487677 167487677 G A rs200420054 CD247 Nonsynonymous SNV A9V 0 0 0.003 0 0 0 0 1 0 0 0 0 4.589 336307 chr1 206711607 206711607 C T rs138095666 RASSF5 Synonymous SNV T188T 0 0 0.003 0 0 0 0 1 0 0 0 0 11.22 336308 chr1 209935938 209935938 C T rs770835639 TRAF3IP3 Nonsynonymous SNV L142F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.019 336309 chr1 223567962 223567964 AGG - rs780068972 CCDC185 E383del 0 0 0.003 0 0 0 0 1 0 0 0 0 336310 chr1 224377389 224377389 G A rs138717762 DEGS1 Nonsynonymous SNV D65N 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 20.7 336311 chr1 228351877 228351877 T A rs13374714 IBA57-DT 0 0 0.003 0 0 0 0 1 0 0 0 0 0.523 336312 chr1 228353781 228353781 C G rs13375853 IBA57 Synonymous SNV A88A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.43 336313 chr1 228391781 228391781 G A rs758736406 OBSCN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.377 336314 chr1 22852784 22852784 G A rs754856648 ZBTB40 Synonymous SNV T1093T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.6 336315 chr1 228559057 228559057 G A rs370128535 OBSCN Nonsynonymous SNV A6860T 0 0 0.003 0 0 0 0 1 0 0 0 0 20.4 336316 chr1 43317080 43317080 C T rs188258387 ZNF691 Nonsynonymous SNV R151W 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 336317 chr1 45797186 45797186 - CC rs587780078 MUTYH Frameshift insertion E267Gfs*43 0 0 0.003 0 0 0 0 1 0 0 0 0 336318 chr1 70887265 70887265 C T CTH Synonymous SNV F89F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.512 336319 chr1 94586555 94586555 G A rs949028237 ABCA4 Nonsynonymous SNV T16I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 336320 chr20 40065914 40065914 C T rs764835276 CHD6 Synonymous SNV T1356T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.56 336321 chr20 47588913 47588913 T C ARFGEF2 Synonymous SNV S492S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.434 336322 chr20 62038003 62038003 C A rs587780369 KCNQ2 Nonsynonymous SNV R843S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 22.2 336323 chr20 62577832 62577832 G A rs138290089 UCKL1 Nonsynonymous SNV T78M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 336324 chr20 76819 76819 A G DEFB125 Nonsynonymous SNV I78V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 336325 chr21 30968992 30968992 G A GRIK1-AS2 0 0 0.003 0 0 0 0 1 0 0 0 0 8.399 336326 chr21 32639165 32639165 C T rs1031249270 TIAM1 Nonsynonymous SNV A42T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.54 336327 chr21 33725126 33725126 C T rs770645834 URB1 Nonsynonymous SNV A836T 0 0 0.003 0 0 0 0 1 0 0 0 0 18.13 336328 chr21 43535986 43535986 C T rs202159448 UMODL1 Nonsynonymous SNV A845V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336329 chr21 47773163 47773163 C A rs958477996 PCNT Stop gain Y416X 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336330 chr22 31942884 31942884 G A rs182967809 SFI1 Nonsynonymous SNV E44K 0 0 0.003 0 0 0 0 1 0 0 0 0 12.27 336331 chr22 44966453 44966453 C T rs184414594 LINC00207 0 0 0.003 0 0 0 0 1 0 0 0 0 2.28 336332 chr2 135099248 135099248 G C MGAT5 Nonsynonymous SNV V299L 0 0 0.003 0 0 0 0 1 0 0 0 0 26.5 336333 chr2 152499087 152499087 C T NEB 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 336334 chr2 168114742 168114742 G A XIRP2 Synonymous SNV K340K 0 0 0.003 0 0 0 0 1 0 0 0 0 10.89 336335 chr2 206614493 206614493 G A rs114848039 NRP2 Nonsynonymous SNV E611K 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 26.5 336336 chr2 206640979 206640979 T G rs147520159 NRP2 Nonsynonymous SNV L817R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 336337 chr2 219000267 219000267 G A rs61733609 CXCR2 Nonsynonymous SNV R248Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.5 336338 chr2 219137341 219137341 G A rs201303528 PNKD Synonymous SNV R95R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.11 336339 chr2 219849786 219849786 G T rs774992873 FEV Nonsynonymous SNV S4R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 336340 chr2 225672767 225672767 C T rs76554935 DOCK10 Nonsynonymous SNV R1143H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 336341 chr2 228883584 228883584 G A rs61752224 SPHKAP Synonymous SNV V662V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.584 336342 chr2 234712127 234712127 G T rs182734868 MROH2A Nonsynonymous SNV R581L 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 336343 chr2 23914548 23914548 G A rs368416333 KLHL29 Nonsynonymous SNV V362M 0 0 0.003 0 0 0 0 1 0 0 0 0 13.04 336344 chr2 241570226 241570226 C T rs144723282 GPR35 Nonsynonymous SNV A286V 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 336345 chr2 25354316 25354316 C T rs745862229 EFR3B Nonsynonymous SNV A275V 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336346 chr2 27801434 27801434 G A rs371972691 C2orf16 Synonymous SNV P665P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.686 336347 chr2 55808709 55808709 T C PPP4R3B Synonymous SNV T453T 0 0 0.003 0 0 0 0 1 0 0 0 0 9.03 336348 chr2 73477491 73477491 C T rs370527926 CCT7 Synonymous SNV G172G 0 0 0.003 0 0 0 0 1 0 0 0 0 19.4 336349 chr2 73493046 73493046 G A rs372703017 FBXO41 Nonsynonymous SNV R394W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.8 336350 chr2 85661235 85661235 G A rs961472034 SH2D6 0 0 0.003 0 0 0 0 1 0 0 0 0 8.063 336351 chr2 96798410 96798410 G A rs138165928 ASTL Nonsynonymous SNV A169V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 336352 chr2 97363788 97363788 G A rs200971071 FER1L5 Synonymous SNV E1417E 0 0 0.003 0 0 0 0 1 0 0 0 0 16.28 336353 chr2 97587288 97587288 C T rs61735946 FAM178B Nonsynonymous SNV R464H 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 336354 chr3 101136517 101136517 T C rs34793967 SENP7 Synonymous SNV S101S 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 6.181 336355 chr3 123221516 123221516 C T rs772337479 HACD2 Nonsynonymous SNV D21N 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 336356 chr3 13670791 13670791 C T rs112843566 FBLN2 Synonymous SNV I900I 0 0 0.003 0 0 0 0 1 0 0 0 0 3.628 336357 chr3 151012448 151012448 T G rs569493600 GPR87 Nonsynonymous SNV K196Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 336358 chr3 154886280 154886280 G A MME 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 336359 chr3 161220931 161220931 G C OTOL1 Nonsynonymous SNV G212A 0 0 0.003 0 0 0 0 1 0 0 0 0 17.84 336360 chr3 169540094 169540094 G T LRRIQ4 Nonsynonymous SNV D129Y 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 336361 chr3 195516396 195516396 G A rs200175860 MUC4 Synonymous SNV D685D 0 0 0.003 0 0 0 0 1 0 0 0 0 2.769 336362 chr3 30713295 30713295 G A rs371209879 TGFBR2 Nonsynonymous SNV R207Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 11.68 336363 chr3 33155863 33155863 C G CRTAP Synonymous SNV A98A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.81 336364 chr3 46904790 46904790 G A rs377026344 MYL3 Nonsynonymous SNV R31C 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.98 336365 chr3 52098875 52098875 C T rs760744950 LINC00696 0 0 0.003 0 0 0 0 1 0 0 0 0 5.575 336366 chr3 52256133 52256133 G A rs780299673 TLR9 Synonymous SNV S733S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.483 336367 chr3 52360158 52360158 G A rs770952001 DNAH1 Nonsynonymous SNV G137R 0 0 0.003 0 0 0 0 1 0 0 0 0 0.151 336368 chr3 54912797 54912797 G A rs76567934 CACNA2D3-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 336369 chr3 58619978 58619978 C T rs779572303 FAM3D-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.936 336370 chr3 66431953 66431953 G A rs200269055 LRIG1 Nonsynonymous SNV P907L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.13 336371 chr3 67054710 67054710 A G KBTBD8 Nonsynonymous SNV K440R 0 0 0.003 0 0 0 0 1 0 0 0 0 7.879 336372 chr3 74384056 74384056 T G CNTN3 Nonsynonymous SNV T500P 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 336373 chr4 152499143 152499143 G A rs185952321 FAM160A1 Nonsynonymous SNV R216Q 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 336374 chr4 156787368 156787368 G A rs28559297 ASIC5 Nonsynonymous SNV T4I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 336375 chr4 184931236 184931236 A G rs761596640 STOX2 Synonymous SNV E415E 0 0 0.003 0 0 0 0 1 0 0 0 0 0.012 336376 chr4 185074829 185074829 T G rs183023017 ENPP6 Nonsynonymous SNV N100T 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 336377 chr4 2074703 2074703 G - rs3833632 POLN Q837Sfs*8 0 0 0.003 0 0 0 0 1 0 0 0 0 336378 chr4 70804909 70804909 A G rs200177207 CSN1S1 Nonsynonymous SNV I86V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 336379 chr4 81123815 81123815 A G PRDM8 Nonsynonymous SNV E400G 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 336380 chr4 91229617 91229617 G C rs184253075 CCSER1 Nonsynonymous SNV S61T 0 0 0.003 0 0 0 0 1 0 0 0 0 26 336381 chr4 96762208 96762208 G C PDHA2 Nonsynonymous SNV E303Q 0 0 0.003 0 0 0 0 1 0 0 0 0 18.07 336382 chr5 140175896 140175896 C T rs782287156 PCDHA2 Synonymous SNV N449N 0 0 0.007 0 0 0 0 2 0 0 1 0 14.18 336383 chr5 148442542 148442542 C G SH3TC2 Nonsynonymous SNV R15P 0 0 0.003 0 0 0 0 1 0 0 0 0 13.06 336384 chr5 156769878 156769878 C T rs767518510 FNDC9 Nonsynonymous SNV G223R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.068 336385 chr5 178419008 178419008 A C GRM6 Nonsynonymous SNV V194G 0 0 0.003 0 0 0 0 1 0 0 0 0 25 336386 chr5 31995684 31995684 G A PDZD2 Synonymous SNV E327E 0 0 0.003 0 0 0 0 1 0 0 0 0 15.25 336387 chr5 38350704 38350704 C G rs148290116 EGFLAM Synonymous SNV V131V 0 0 0.003 0 0 0 0 1 0 0 0 0 7.66 336388 chr5 53751620 53751620 A G rs368634232 HSPB3 Star tloss M1? 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 23.6 336389 chr5 66462494 66462494 C A rs200131786 MAST4 Nonsynonymous SNV A2235D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 336390 chr5 70806552 70806552 A C rs759140186 BDP1 Nonsynonymous SNV E1211D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.173 336391 chr6 106968671 106968671 G A rs61739383 CRYBG1 Synonymous SNV Q788Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.157 336392 chr6 125139573 125139573 G A NKAIN2 Synonymous SNV G90G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.84 336393 chr6 142400027 142400027 C T rs141190379 NMBR Nonsynonymous SNV V146I 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336394 chr6 160952780 160952780 C T rs186413938 LPA Nonsynonymous SNV G2035E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.97 336395 chr6 3085632 3085632 G A rs774820485 RIPK1 Synonymous SNV P230P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.14 336396 chr6 39864605 39864605 C T rs201714943 DAAM2 Nonsynonymous SNV R787W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336397 chr6 42233529 42233529 G A rs79466811 TRERF1 Synonymous SNV L482L 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.35 336398 chr6 42237070 42237070 T C rs116259507 TRERF1 Nonsynonymous SNV S87G 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.201 336399 chr6 43005609 43005609 G A rs61731584 CUL7 Synonymous SNV D1722D 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 9.712 336400 chr6 43166401 43166401 G A rs773739598 CUL9 Nonsynonymous SNV R953Q 0 0 0.003 0 0 0 0 1 0 0 0 0 15.72 336401 chr6 43413555 43413555 C T rs772470267 ABCC10 Synonymous SNV R1055R 0 0 0.003 0 0 0 0 1 0 0 0 0 16.52 336402 chr6 43413630 43413630 C G rs532699194 ABCC10 Synonymous SNV A1080A 0 0 0.003 0 0 0 0 1 0 0 0 0 6.624 336403 chr6 5086659 5086659 G A PPP1R3G Nonsynonymous SNV D314N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.137 336404 chr6 56482960 56482960 A G DST Nonsynonymous SNV Y1958H 0 0 0.003 0 0 0 0 1 0 0 0 0 12.61 336405 chr6 76728557 76728557 C T rs141169671 IMPG1 Nonsynonymous SNV A151T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 336406 chr6 88218868 88218868 A T rs767391452 SLC35A1 Synonymous SNV S228S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.25 336407 chr7 102939954 102939954 T C PMPCB Nonsynonymous SNV F102S 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336408 chr7 122342744 122342744 G A rs930553781 RNF148 Nonsynonymous SNV L21F 0 0 0.003 0 0 0 0 1 0 0 0 0 8.908 336409 chr7 131122691 131122691 A G rs993373649 MKLN1 Nonsynonymous SNV T163A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.55 336410 chr7 138602191 138602191 G A rs201109912 KIAA1549 Synonymous SNV L727L 0 0 0.003 0 0 0 0 1 0 0 0 0 6.715 336411 chr7 157874066 157874066 A T PTPRN2 Synonymous SNV V511V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.003 336412 chr7 26577996 26577996 G A rs1033653206 LOC441204 0 0 0.003 0 0 0 0 1 0 0 0 0 1.039 336413 chr7 42004054 42004054 G T GLI3 Synonymous SNV T1539T 0 0 0.003 0 0 0 0 1 0 0 0 0 7.355 336414 chr7 47851580 47851580 C T PKD1L1 Synonymous SNV V2472V 0 0 0.003 0 0 0 0 1 0 0 0 0 15.78 336415 chr7 48015225 48015225 G A rs150551899 HUS1 Synonymous SNV N154N 0 0 0.003 0 0 0 0 1 0 0 0 0 11.21 336416 chr7 4917754 4917754 T C rs374258156 RADIL Nonsynonymous SNV H6R 0 0 0.007 0 0 0 0 2 0 0 1 0 0.086 336417 chr7 82578956 82578956 C A PCLO Nonsynonymous SNV D3650Y 0 0 0.003 0 0 0 0 1 0 0 0 0 22 336418 chr7 87053350 87053350 C A ABCB4 Nonsynonymous SNV V695L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 336419 chr7 91726385 91726385 T A AKAP9 Nonsynonymous SNV L3371Q 0 0 0.003 0 0 0 0 1 0 0 0 0 28.2 336420 chr7 92921050 92921050 A C rs188742733 VPS50 Synonymous SNV A326A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.572 336421 chr7 99689077 99689077 G A rs772178614 COPS6 Synonymous SNV E259E 0 0 0.003 0 0 0 0 1 0 0 0 0 8.921 336422 chr8 100514087 100514087 G A VPS13B 0 0 0.003 0 0 0 0 1 0 0 0 0 26.8 336423 chr8 110255408 110255408 T C NUDCD1 Nonsynonymous SNV T499A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 336424 chr8 121426253 121426253 G A rs749399960 MRPL13 Synonymous SNV D164D 0 0 0.003 0 0 0 0 1 0 0 0 0 3.292 336425 chr8 135612650 135612650 C T rs2277139 ZFAT-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 8.514 336426 chr8 142367350 142367350 C T rs201039593 GPR20 Nonsynonymous SNV R225Q 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 336427 chr8 144946266 144946266 C T rs782426216 EPPK1 Nonsynonymous SNV V386M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 336428 chr8 144946764 144946764 G A EPPK1 Nonsynonymous SNV R220C 0 0 0.003 0 0 0 0 1 0 0 0 0 19.41 336429 chr8 17726493 17726493 C A rs139691812 FGL1 Nonsynonymous SNV D175Y 0 0 0.003 0 0 0 0 1 0 0 0 0 31 336430 chr8 22460050 22460050 C T rs767732421 C8orf58 Nonsynonymous SNV R294W 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336431 chr8 3038647 3038647 G A rs201281101 CSMD1 Nonsynonymous SNV H1904Y 0 0 0.003 0 0 0 0 1 0 0 0 0 25.6 336432 chr8 72755822 72755822 G A rs775219597 MSC-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 5.05 336433 chr8 8560778 8560778 C T CLDN23 Synonymous SNV S290S 0 0 0.003 0 0 0 0 1 0 0 0 0 17.17 336434 chr9 1056888 1056888 G A rs754599241 DMRT2 Nonsynonymous SNV R260Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.2 336435 chr9 130571153 130571153 T G rs748528022 FPGS Nonsynonymous SNV S323A 0 0 0.003 0 0 0 0 1 0 0 0 0 0.18 336436 chr9 131669495 131669495 C A rs764430309 LRRC8A Synonymous SNV R18R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 336437 chr9 18661949 18661949 G A rs148178041 ADAMTSL1 Synonymous SNV S321S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.47 336438 chr9 21141480 21141480 A G rs35912208 IFNW1 Synonymous SNV H30H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.056 336439 chr9 27524624 27524624 T A rs34933275 IFNK Nonsynonymous SNV I97N 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 336440 chr9 27524818 27524818 C T rs35122540 IFNK Synonymous SNV L162L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.516 336441 chr9 33465784 33465784 G A rs115142129 NOL6 Nonsynonymous SNV R826C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.3 336442 chr9 79898482 79898482 T C rs778359537 VPS13A Synonymous SNV I1046I 0 0 0.003 0 0 0 0 1 0 0 0 0 10.94 336443 chr9 98783021 98783021 G A rs529860963 LINC00092 0 0 0.003 0 0 0 0 1 0 0 0 0 7.912 336444 chr10 116931095 116931095 T C ATRNL1 Nonsynonymous SNV F465L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.873 336445 chr10 135169275 135169275 C T rs371333403 FUOM Nonsynonymous SNV R99Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.39 336446 chr10 28032225 28032225 G A rs534056794 MKX Synonymous SNV R40R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.12 336447 chr10 30739201 30739201 A G rs760808408 MAP3K8 Synonymous SNV Q173Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.346 336448 chr10 3172016 3172016 C T rs144933994 PFKP Synonymous SNV C296C 0 0 0.003 0 0 0 0 1 0 0 0 0 15.4 336449 chr10 35495956 35495956 A G rs114020170 CREM Synonymous SNV R53R 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 9.079 336450 chr10 4033371 4033371 C T rs1079033 MIR6078 0 0 0.003 0 0 0 0 1 0 0 0 0 0.439 336451 chr10 71392646 71392646 A T rs144236141 FAM241B Nonsynonymous SNV D66V 0 0 0.003 0 0 0 0 1 0 0 0 0 24.1 336452 chr10 71392712 71392712 C T rs762044523 FAM241B Nonsynonymous SNV P88L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336453 chr10 88439852 88439852 A C LDB3 Nonsynonymous SNV I87L 0 0 0.003 0 0 0 0 1 0 0 0 0 13.81 336454 chr11 117222514 117222514 T C rs747800943 CEP164 Nonsynonymous SNV I68T 0 0 0.003 0 0 0 0 1 0 0 0 0 21.6 336455 chr11 119182318 119182318 T C rs745476500 MCAM Synonymous SNV K443K 0 0 0.003 0 0 0 0 1 0 0 0 0 2.773 336456 chr11 12029933 12029933 C T rs552396948 DKK3 Nonsynonymous SNV R66H 0 0 0.003 0 0 0 0 1 0 0 0 0 35 336457 chr11 123676412 123676412 C T rs369976233 OR6M1 Nonsynonymous SNV V216M 0 0 0.003 0 0 0 0 1 0 0 0 0 4.03 336458 chr11 128840380 128840380 G A rs149052859 ARHGAP32 Synonymous SNV S1213S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.36 336459 chr11 12903485 12903485 G A rs73409223 TEAD1 Synonymous SNV A185A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.65 336460 chr11 18451353 18451353 C T LDHC Nonsynonymous SNV T105I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.56 336461 chr11 30255284 30255284 C A rs148454792 FSHB Nonsynonymous SNV S109R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 27.6 336462 chr11 44089417 44089417 C T ACCS Synonymous SNV G80G 0 0 0.003 0 0 0 0 1 0 0 0 0 13.7 336463 chr11 46723181 46723181 T G rs551297917 ZNF408 Synonymous SNV S87S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.393 336464 chr11 66482854 66482854 T C SPTBN2 Nonsynonymous SNV K108E 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 336465 chr11 66610428 66610428 C A C11orf80 Nonsynonymous SNV P453Q 0 0 0.003 0 0 0 0 1 0 0 0 0 16.2 336466 chr11 70194411 70194411 C A rs147181972 PPFIA1 Nonsynonymous SNV P683H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 336467 chr11 76419400 76419400 C T GUCY2EP 0 0 0.003 0 0 0 0 1 0 0 0 0 4.836 336468 chr11 93529656 93529656 G A MED17 Nonsynonymous SNV E365K 0 0 0.003 0 0 0 0 1 0 0 0 0 20.1 336469 chr12 100930374 100930374 A G NR1H4 Nonsynonymous SNV I279V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.634 336470 chr12 106461009 106461009 G A rs56074616 NUAK1 Synonymous SNV C519C 0 0 0.003 0 0 0 0 1 0 0 0 0 1.036 336471 chr12 107372371 107372371 G A rs759808681 MTERF2 Nonsynonymous SNV S41L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.42 336472 chr12 108911014 108911014 G A rs746642946 FICD Nonsynonymous SNV A89T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.668 336473 chr12 121004644 121004644 T G RNF10 Nonsynonymous SNV I639M 0 0 0.003 0 0 0 0 1 0 0 0 0 26.3 336474 chr12 125509774 125509774 T C rs779789980 BRI3BP Nonsynonymous SNV V185A 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 336475 chr12 22354828 22354828 A G ST8SIA1 Synonymous SNV G100G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.088 336476 chr12 26551814 26551814 A G ITPR2 Nonsynonymous SNV I2564T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.7 336477 chr12 32134890 32134890 T C rs771600311 RESF1 Nonsynonymous SNV I334T 0 0 0.003 0 0 0 0 1 0 0 0 0 10.66 336478 chr12 48380148 48380148 C T rs768110640 COL2A1 Nonsynonymous SNV V431I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 22 336479 chr12 50452728 50452728 T G ASIC1 Nonsynonymous SNV V60G 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 336480 chr12 56721360 56721360 G A rs775159385 PAN2 Nonsynonymous SNV S236L 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336481 chr12 5672586 5672586 G A rs201149284 ANO2 Nonsynonymous SNV P959L 0 0 0.003 0 0 0 0 1 0 0 0 0 1.216 336482 chr12 68052121 68052121 C T rs375389205 DYRK2 Synonymous SNV N405N 0 0 0.003 0 0 0 0 1 0 0 0 0 7.996 336483 chr12 7593754 7593754 A G rs753022176 CD163L1 Synonymous SNV S40S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.029 336484 chr13 109792770 109792770 G T MYO16 Nonsynonymous SNV A1404S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336485 chr13 110818603 110818603 C T rs141395813 COL4A1 Nonsynonymous SNV D1333N 0 0 0.003 0 0 0 0 1 0 0 0 0 28.4 336486 chr13 113965088 113965088 T C LAMP1 Synonymous SNV V156V 0 0 0.003 0 0 0 0 1 0 0 0 0 1.36 336487 chr13 25457450 25457450 C G CENPJ Nonsynonymous SNV Q1294H 0 0 0.003 0 0 0 0 1 0 0 0 0 19.38 336488 chr13 28854576 28854576 G A rs537694851 PAN3 Nonsynonymous SNV M739I 0 0 0.003 0 0 0 0 1 0 0 0 0 21.2 336489 chr13 35751180 35751180 G A rs371251683 NBEA Synonymous SNV P1534P 0 0 0.003 0 0 0 0 1 0 0 0 0 8.761 336490 chr13 39262815 39262815 C T FREM2 Nonsynonymous SNV T445I 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 336491 chr14 102675968 102675968 T G rs747675612 WDR20 Nonsynonymous SNV I426M 0 0 0.003 0 0 0 0 1 0 0 0 0 16.26 336492 chr14 69994627 69994627 G A rs760983111 PLEKHD1 Synonymous SNV R443R 0 0 0.003 0 0 0 0 1 0 0 0 0 11.96 336493 chr14 70515613 70515613 C T rs570387826 SLC8A3 Nonsynonymous SNV V117I 0 0 0.003 0 0 0 0 1 0 0 0 0 22.6 336494 chr14 73717669 73717669 C T rs73305094 PAPLN Nonsynonymous SNV R174W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336495 chr14 74823778 74823778 G A rs140827396 VRTN Nonsynonymous SNV A98T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.075 336496 chr14 95786084 95786084 C T rs201470524 CLMN Nonsynonymous SNV G16R 0 0 0.003 0 0 0 0 1 0 0 0 0 29.2 336497 chr15 40648330 40648330 T C rs768258411 PHGR1 Synonymous SNV P25P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 336498 chr15 42691713 42691713 A G CAPN3 Nonsynonymous SNV Y358C 0 0 0.003 0 0 0 0 1 0 0 0 0 25.5 336499 chr15 43500911 43500911 C T rs781515047 EPB42 Nonsynonymous SNV G329S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.15 336500 chr15 54307311 54307311 A G rs199546727 UNC13C Synonymous SNV Q737Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 336501 chr15 73585798 73585798 C T rs745705894 NEO1 Synonymous SNV L1259L 0 0 0.003 0 0 0 0 1 0 0 0 0 16.95 336502 chr15 74426662 74426662 G A rs767321778 ISLR2 Nonsynonymous SNV G523R 0 0 0.003 0 0 0 0 1 0 0 0 0 13.84 336503 chr15 76518219 76518219 C T rs368757881 ETFA Nonsynonymous SNV D263N 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336504 chr15 90021109 90021109 C T rs776300469 RHCG Nonsynonymous SNV V312I 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336505 chr15 90631596 90631596 C T rs142816010 IDH2 Nonsynonymous SNV D95N 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 25.4 336506 chr16 1630556 1630556 C A rs548230996 LOC105371046 0 0 0.003 0 0 0 0 1 0 0 0 0 0.781 336507 chr16 22237138 22237138 G A rs377003950 EEF2K Nonsynonymous SNV D30N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 336508 chr16 23400271 23400271 G A rs144814374 COG7 Synonymous SNV T761T 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 8.251 336509 chr16 24802445 24802445 G A rs148154296 TNRC6A Nonsynonymous SNV A828T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 336510 chr16 3024347 3024347 C T rs56382954 PKMYT1 Nonsynonymous SNV E282K 0 0 0.003 0 0 0 0 1 0 0 0 0 22.9 336511 chr16 52473500 52473500 C G rs772527716 TOX3 Nonsynonymous SNV M456I 0 0 0.003 0 0 0 0 1 0 0 0 0 7.956 336512 chr16 541149 541149 C T rs201267811 RAB11FIP3 Synonymous SNV A427A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.92 336513 chr16 57265093 57265093 C G rs935064185 RSPRY1 Nonsynonymous SNV A464G 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336514 chr16 57552057 57552057 G A rs373638709 CCDC102A Nonsynonymous SNV R391W 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336515 chr16 70732653 70732653 G A rs145938865 VAC14 Nonsynonymous SNV R341W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 336516 chr16 72132684 72132684 C A DHX38 Synonymous SNV R253R 0 0 0.003 0 0 0 0 1 0 0 0 0 22.2 336517 chr16 772506 772506 C T ANTKMT Synonymous SNV P202P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.41 336518 chr16 81211460 81211460 C A rs370023428 PKD1L2 Nonsynonymous SNV A112S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.175 336519 chr16 84215971 84215971 C T TAF1C Synonymous SNV V186V 0 0 0.003 0 0 0 0 1 0 0 0 0 10.3 336520 chr16 85694836 85694836 C G rs761197485 GSE1 Synonymous SNV P471P 0 0 0.003 0 0 0 0 1 0 0 0 0 6.749 336521 chr16 88599313 88599313 G A rs766110763 ZFPM1 Nonsynonymous SNV A387T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336522 chr16 89922067 89922067 T C rs765753973 SPIRE2 Synonymous SNV F317F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.558 336523 chr17 15961841 15961841 G A rs200158089 NCOR1 Nonsynonymous SNV P1882L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 336524 chr17 18863967 18863967 T C rs142768495 SLC5A10 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 336525 chr17 19480821 19480821 C T SLC47A1 Synonymous SNV I556I 0 0 0.003 0 0 0 0 1 0 0 0 0 13.27 336526 chr17 26731979 26731979 G C rs370673122 SLC46A1 Nonsynonymous SNV R246G 0 0 0.003 0 0 0 0 1 0 0 0 0 11.19 336527 chr17 33313102 33313102 G A rs779881244 LIG3 Nonsynonymous SNV A215T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.354 336528 chr17 39535728 39535728 G A rs758212936 KRT34 Synonymous SNV T293T 0 0 0.003 0 0 0 0 1 0 0 0 0 2.142 336529 chr17 3977628 3977628 G A rs199587802 ZZEF1 Synonymous SNV A1167A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.51 336530 chr17 39975515 39975515 G A rs781821453 FKBP10 Nonsynonymous SNV V261M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.8 336531 chr17 40042391 40042391 A G ACLY Synonymous SNV Y726Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.635 336532 chr17 40735595 40735595 C T RETREG3 Nonsynonymous SNV R244H 0 0 0.003 0 0 0 0 1 0 0 0 0 24 336533 chr17 40996708 40996708 A G rs34435306 AOC2 Nonsynonymous SNV Y22C 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 336534 chr17 53111560 53111560 C T STXBP4 Synonymous SNV C265C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.17 336535 chr17 56274596 56274596 G A rs201800086 EPX Synonymous SNV A366A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.64 336536 chr17 56332189 56332189 G C LPO Nonsynonymous SNV E292Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 336537 chr17 58128287 58128287 G A HEATR6 Stop gain Q781X 0 0 0.003 0 0 0 0 1 0 0 0 0 42 336538 chr17 6023914 6023914 G A rs765907972 WSCD1 Nonsynonymous SNV R554Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23 336539 chr17 62045516 62045516 G A rs201411232 SCN4A Synonymous SNV Y301Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 1.674 336540 chr17 65907391 65907391 G C BPTF Nonsynonymous SNV D1131H 0 0 0.003 0 0 0 0 1 0 0 0 0 5.95 336541 chr17 67041359 67041359 A G ABCA9 Synonymous SNV S141S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 336542 chr17 7370097 7370097 C T rs147041318 ZBTB4 Synonymous SNV T8T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.64 336543 chr17 73750775 73750775 C T rs757015543 ITGB4 Synonymous SNV H1409H 0 0 0.003 0 0 0 0 1 0 0 0 0 10.55 336544 chr17 7496766 7496766 A G rs754935726 FXR2 Nonsynonymous SNV Y429H 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 336545 chr17 76497856 76497856 G A rs773176001 DNAH17 Nonsynonymous SNV R1764W 0 0 0.003 0 0 0 0 1 0 0 0 0 31 336546 chr17 7724644 7724644 A G DNAH2 Nonsynonymous SNV K3700R 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 336547 chr17 78184314 78184314 - A SGSH Frameshift insertion D484Rfs*18 0 0 0.003 0 0 0 0 1 0 0 0 0 336548 chr17 7950692 7950692 G A rs141549870 ALOX15B Nonsynonymous SNV S496N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.216 336549 chr18 12464882 12464882 C T rs772537931 SPIRE1 Nonsynonymous SNV V360M 0 0 0.003 0 0 0 0 1 0 0 0 0 6.496 336550 chr18 30349869 30349869 G C rs142480775 KLHL14 Nonsynonymous SNV P229R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 336551 chr18 47390616 47390616 C G rs530758620 MYO5B Nonsynonymous SNV Q1246H 0 0 0.003 0 0 0 0 1 0 0 0 0 28 336552 chr19 11559977 11559977 A G rs922380592 PRKCSH Nonsynonymous SNV N473S 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 336553 chr19 13084392 13084392 C T rs371222553 DAND5 Nonsynonymous SNV R172W 0 0 0.003 0 0 0 0 1 0 0 0 0 24 336554 chr19 15521362 15521362 C T rs754448640 AKAP8L Synonymous SNV S19S 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 336555 chr19 19039080 19039080 G A rs35412126 DDX49 Synonymous SNV P469P 0 0 0.003 0 0 0 0 1 0 0 0 0 4.743 336556 chr19 19329913 19329913 G A rs371203816 NCAN Nonsynonymous SNV R88Q 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 336557 chr19 2046648 2046648 C T rs144836311 MKNK2 Nonsynonymous SNV D32N 0 0 0.003 0 0 0 0 1 0 0 0 0 8.593 336558 chr19 35804325 35804325 C G rs368498070 MAG Nonsynonymous SNV L592V 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 336559 chr19 3619108 3619108 G A rs747058525 CACTIN Synonymous SNV A339A 0 0 0.003 0 0 0 0 1 0 0 0 0 14.99 336560 chr19 3767303 3767303 T C MRPL54 Nonsynonymous SNV L110P 0 0 0.003 0 0 0 0 1 0 0 0 0 25 336561 chr19 38572756 38572756 C T rs747791015 SIPA1L3 Nonsynonymous SNV A184V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.064 336562 chr19 4538958 4538958 C A LRG1 Nonsynonymous SNV G13V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.784 336563 chr19 52448780 52448780 T C rs141015067 ZNF613 Synonymous SNV N548N 0 0 0.003 0 0 0 0 1 0 0 0 0 0.239 336564 chr19 53645734 53645734 A C ZNF347 Nonsynonymous SNV V117G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.025 336565 chr19 651704 651704 G A rs149405763 RNF126 Nonsynonymous SNV P117L 0 0 0.003 0 0 0 0 1 0 0 0 0 9.734 336566 chr1 100154510 100154510 G A rs138048573 PALMD Nonsynonymous SNV D232N 0 0 0.003 0 0 0 0 1 0 0 0 0 19.09 336567 chr1 10421783 10421783 A G rs764604859 KIF1B Nonsynonymous SNV K1356E 0 0 0.003 0 0 0 0 1 0 0 0 0 32 336568 chr1 118492711 118492711 G A rs79722617 WDR3 Synonymous SNV L568L 0 0 0.003 0 0 0 0 1 0 0 0 0 10.84 336569 chr1 120165648 120165648 G A rs201139974 ZNF697 Nonsynonymous SNV R440C 0 0 0.003 0 0 0 0 1 0 0 0 0 24.3 336570 chr1 145589271 145589271 G A NUDT17 Nonsynonymous SNV P53S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.18 336571 chr1 156144707 156144707 C T SEMA4A Synonymous SNV R338R 0 0 0.003 0 0 0 0 1 0 0 0 0 8.259 336572 chr1 158576325 158576325 T G rs79308545 OR10Z1 Nonsynonymous SNV S33A 0 0 0.003 0 0 0 0 1 0 0 0 0 1.427 336573 chr1 170940892 170940892 A C MROH9 Nonsynonymous SNV S162R 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 336574 chr1 19992787 19992787 C G rs761027992 HTR6 Nonsynonymous SNV R181G 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 336575 chr1 202702929 202702929 G C KDM5B Nonsynonymous SNV P1125R 0 0 0.003 0 0 0 0 1 0 0 0 0 3.175 336576 chr1 203023039 203023039 C G PPFIA4 Synonymous SNV T593T 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 336577 chr1 20644055 20644055 C T rs765142859 VWA5B1 Nonsynonymous SNV P199L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.015 336578 chr1 214814201 214814201 G A rs145907868 CENPF Synonymous SNV E840E 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 0.71 336579 chr1 214836938 214836938 A G rs563854885 CENPF Nonsynonymous SNV K3049R 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 336580 chr1 21887141 21887141 C G ALPL Stop gain Y28X 0 0 0.003 0 0 0 0 1 0 0 0 0 36 336581 chr1 223567736 223567736 C T CCDC185 Nonsynonymous SNV R307W 0 0 0.003 0 0 0 0 1 0 0 0 0 24.6 336582 chr1 228401134 228401134 C G OBSCN-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 336583 chr1 228504498 228504498 G T OBSCN Synonymous SNV A4458A 0 0 0.003 0 0 0 0 1 0 0 0 0 10.29 336584 chr1 228559497 228559497 G C OBSCN Nonsynonymous SNV Q7006H 0 0 0.003 0 0 0 0 1 0 0 0 0 0.006 336585 chr1 230979263 230979263 A G C1orf198 Nonsynonymous SNV L125P 0 0 0.003 0 0 0 0 1 0 0 0 0 22 336586 chr1 231048466 231048466 G A rs376123252 TTC13 Nonsynonymous SNV T657M 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336587 chr1 235969490 235969490 A G rs145892183 LYST Synonymous SNV Y982Y 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 0.079 336588 chr1 27333014 27333014 C T rs373723292 TENT5B Synonymous SNV S233S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.43 336589 chr1 27877345 27877345 C T rs764061989 AHDC1 Nonsynonymous SNV E428K 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 336590 chr1 3348549 3348549 G T PRDM16 Nonsynonymous SNV G1181C 0 0 0.003 0 0 0 0 1 0 0 0 0 26.1 336591 chr1 3397036 3397036 G A rs760500669 ARHGEF16 Nonsynonymous SNV R672Q 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336592 chr1 34383836 34383836 G A rs759006019 CSMD2 Nonsynonymous SNV S260L 0 0 0.003 0 0 0 0 1 0 0 0 0 21.8 336593 chr1 36785483 36785483 A G SH3D21 Nonsynonymous SNV I296V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 336594 chr1 39927646 39927646 T C MACF1 Synonymous SNV A5146A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.87 336595 chr1 43395578 43395578 G A SLC2A1 Synonymous SNV L215L 0 0 0.003 0 0 0 0 1 0 0 0 0 11.53 336596 chr1 43909142 43909142 C T rs375848057 SZT2 Synonymous SNV D2816D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 11.64 336597 chr1 46501609 46501609 C T rs762953713 MAST2 Synonymous SNV D1755D 0 0 0.003 0 0 0 0 1 0 0 0 0 11.6 336598 chr1 46650780 46650780 A C rs966873596 TSPAN1 Nonsynonymous SNV K196T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336599 chr1 47276544 47276544 C T rs942315525 CYP4B1 Nonsynonymous SNV P82L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336600 chr1 48688488 48688499 TGGACTCCAGAG - rs772484250 SLC5A9 D28_V31del 0 0 0.003 0 0 0 0 1 0 0 0 0 336601 chr1 53556410 53556410 C T rs374730599 SLC1A7 Nonsynonymous SNV R295H 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336602 chr1 57528562 57528562 C G rs141893131 DAB1, DAB1 Nonsynonymous SNV V240L 0 0 0.003 0 0 0 0 1 0 0 0 0 22.7 336603 chr1 62979468 62979468 C T rs776572591 DOCK7 Synonymous SNV K1315K 0 0 0.003 0 0 0 0 1 0 0 0 0 14.5 336604 chr1 70397244 70397244 C T rs752776916 LRRC7 Synonymous SNV F235F 0 0 0.003 0 0 0 0 1 0 0 0 0 17.6 336605 chr20 18269244 18269244 C T rs376631940 ZNF133 Synonymous SNV G53G 0 0 0.003 0 0 0 0 1 0 0 0 0 21.4 336606 chr20 307408 307408 G C rs757003775 SOX12 Synonymous SNV S280S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.53 336607 chr20 30897862 30897862 C T rs371201398 KIF3B Synonymous SNV A94A 0 0 0.003 0 0 0 0 1 0 0 0 0 11.76 336608 chr20 32267658 32267658 C T rs371120550 E2F1 Nonsynonymous SNV V159M 0 0 0.003 0 0 0 0 1 0 0 0 0 27.6 336609 chr20 33329266 33329266 A G rs373830829 NCOA6 Synonymous SNV T1598T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.008 336610 chr20 34146992 34146992 A G rs41293068 FER1L4 0 0 0.003 0 0 0 0 1 0 0 0 0 16.04 336611 chr20 39991136 39991136 C T rs137927451 EMILIN3 Nonsynonymous SNV R358Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336612 chr20 42885909 42885909 C T rs749217882 GDAP1L1 Synonymous SNV P99P 0 0 0.003 0 0 0 0 1 0 0 0 0 16.24 336613 chr20 49204343 49204343 C T rs776001816 RIPOR3 Synonymous SNV S916S 0 0 0.003 0 0 0 0 1 0 0 0 0 12.31 336614 chr20 57243062 57243062 G A rs201383880 STX16 Nonsynonymous SNV R87Q 0 0 0.003 0 0 0 0 1 0 0 0 0 29.6 336615 chr20 57428735 57428735 A G GNAS Nonsynonymous SNV M139V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336616 chr20 62724116 62724116 G A rs756968755 OPRL1 Nonsynonymous SNV G15S 0 0 0.003 0 0 0 0 1 0 0 0 0 1.986 336617 chr21 22881207 22881207 A G NCAM2 Nonsynonymous SNV I563V 0 0 0.003 0 0 0 0 1 0 0 0 0 8.784 336618 chr21 43808545 43808545 G T rs147231991 TMPRSS3 Nonsynonymous SNV A11E 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic/Likely pathogenic 26.6 336619 chr21 46914784 46914784 C T rs139122081 COL18A1 Synonymous SNV Y976Y 0 0 0.003 0 0 0 0 1 0 0 0 0 7.404 336620 chr21 47754312 47754312 C T rs764529113 PCNT Nonsynonymous SNV P90L 0 0 0.003 0 0 0 0 1 0 0 0 0 4.142 336621 chr22 19033989 19033989 T C DGCR11 0 0 0.003 0 0 0 0 1 0 0 0 0 10.76 336622 chr22 22868711 22868711 G A rs143724074 ZNF280A Nonsynonymous SNV T415M 0 0 0.003 0 0 0 0 1 0 0 0 0 9.543 336623 chr22 23523186 23523186 G T rs375737541 BCR Synonymous SNV A13A 0 0 0.003 0 0 0 0 1 0 0 0 0 8.844 336624 chr22 36900247 36900247 A G rs777457054 FOXRED2 Nonsynonymous SNV I316T 0 0 0.003 0 0 0 0 1 0 0 0 0 14.22 336625 chr22 40708920 40708920 C T TNRC6B Nonsynonymous SNV L1423F 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336626 chr22 46860224 46860224 G A rs144860198 CELSR1 Nonsynonymous SNV T1188M 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 336627 chr2 133554220 133554220 C T rs377536203 NCKAP5 Nonsynonymous SNV R297Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.46 336628 chr2 136023224 136023224 C A ZRANB3 Nonsynonymous SNV R473S 0 0 0.003 0 0 0 0 1 0 0 0 0 26.7 336629 chr2 152403955 152403955 G A rs140323673 NEB Synonymous SNV D5084D 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 9.699 336630 chr2 153573945 153573945 G A rs377745537 PRPF40A Synonymous SNV S3S 0 0 0.003 0 0 0 0 1 0 0 0 0 15.5 336631 chr2 164467458 164467458 T A FIGN Nonsynonymous SNV Y284F 0 0 0.003 0 0 0 0 1 0 0 0 0 23.3 336632 chr2 168103278 168103278 G T rs374142019 XIRP2 Synonymous SNV L1570L 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 336633 chr2 170012828 170012828 A T LRP2 Nonsynonymous SNV F4036Y 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 336634 chr2 170062576 170062576 G A rs766295068 LRP2 Nonsynonymous SNV R2505C 0 0 0.003 0 0 0 0 1 0 0 0 0 34 336635 chr2 171655383 171655383 C T rs577886713 ERICH2 Synonymous SNV D150D 0 0 0.003 0 0 0 0 1 0 0 0 0 10.1 336636 chr2 179440787 179440787 C G TTN Nonsynonymous SNV A14293P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.53 336637 chr2 179455145 179455145 C A TTN Nonsynonymous SNV G11371V 0 0 0.003 0 0 0 0 1 0 0 0 0 20.5 336638 chr2 215802261 215802261 C T rs368978989 ABCA12 Synonymous SNV Q2187Q 0 0 0.003 0 0 0 0 1 0 0 0 0 11.03 336639 chr2 219305586 219305586 G A VIL1 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 336640 chr2 219509327 219509339 CAGGTCGGGCTGA - ZNF142 S634Rfs*22 0 0 0.003 0 0 0 0 1 0 0 0 0 336641 chr2 228884581 228884581 C T SPHKAP Nonsynonymous SNV G330D 0 0 0.003 0 0 0 0 1 0 0 0 0 8.471 336642 chr2 233323616 233323616 G C rs148157889 ALPI Nonsynonymous SNV E449D 0 0 0.003 0 0 0 0 1 0 0 0 0 23.9 336643 chr2 238280593 238280593 G T COL6A3 Nonsynonymous SNV A749E 0 0 0.003 0 0 0 0 1 0 0 0 0 21.5 336644 chr2 25062789 25062789 C T rs779219219 ADCY3 Synonymous SNV S436S 0 0 0.003 0 0 0 0 1 0 0 0 0 10.92 336645 chr2 31152284 31152284 G A rs200133273 GALNT14 Synonymous SNV F376F 0 0 0.003 0 0 0 0 1 0 0 0 0 14.57 336646 chr2 37501682 37501682 A G PRKD3 Synonymous SNV A511A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.396 336647 chr2 51254909 51254909 T C rs200625614 NRXN1 Nonsynonymous SNV K168R 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 7.031 336648 chr2 54756550 54756550 A G rs758594121 RPL23AP32 0 0 0.003 0 0 0 0 1 0 0 0 0 3.445 336649 chr2 61406105 61406105 G A rs1036415240 AHSA2P 0 0 0.003 0 0 0 0 1 0 0 0 0 10.77 336650 chr2 68882240 68882240 C T rs201000099 PROKR1 Synonymous SNV G238G 0 0 0.003 0 0 0 0 1 0 0 0 0 3.724 336651 chr2 74666705 74666705 G A RTKN Synonymous SNV Y15Y 0 0 0.003 0 0 0 0 1 0 0 0 0 15.26 336652 chr2 89036088 89036088 G A rs72930711 RPIA Synonymous SNV K211K 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 12.87 336653 chr2 96781552 96781552 C T ADRA2B Nonsynonymous SNV A113T 0 0 0.003 0 0 0 0 1 0 0 0 0 27.2 336654 chr2 98409228 98409228 C T rs61753926 TMEM131 Synonymous SNV Q1255Q 0 0 0.003 0 0 0 0 1 0 0 0 0 12.82 336655 chr3 113765454 113765454 A G rs112871549 CCDC191 Synonymous SNV D72D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.675 336656 chr3 122811251 122811251 G A rs139086659 PDIA5 Synonymous SNV A73A 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 336657 chr3 127398863 127398863 C T rs373271133 ABTB1 Synonymous SNV V213V 0 0 0.003 0 0 0 0 1 0 0 0 0 9.542 336658 chr3 133099711 133099711 C G rs139752429 TMEM108 Nonsynonymous SNV P386A 0 0 0.003 0 0 0 0 1 0 0 0 0 13.19 336659 chr3 160037585 160037585 T A IFT80 Nonsynonymous SNV N170I 0 0 0.003 0 0 0 0 1 0 0 0 0 29 336660 chr3 184019852 184019852 C T rs916508453 PSMD2 Nonsynonymous SNV L103F 0 0 0.003 0 0 0 0 1 0 0 0 0 25.9 336661 chr3 184093356 184093356 G C rs1047355584 THPO Nonsynonymous SNV P59A 0 0 0.003 0 0 0 0 1 0 0 0 0 23.4 336662 chr3 195638676 195638676 C G rs776075298 TNK2-AS1 0 0 0.003 0 0 0 0 1 0 0 0 0 4.393 336663 chr3 21448116 21448116 C G rs781520824 VENTXP7 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 336664 chr3 25637915 25637915 A G rs61733682 RARB Synonymous SNV A385A 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 0.387 336665 chr3 25638104 25638104 A G rs772807283 RARB Synonymous SNV Q448Q 0 0 0.003 0 0 0 0 1 0 0 0 0 0.036 336666 chr3 25900238 25900238 C G LINC00692 0 0 0.003 0 0 0 0 1 0 0 0 0 14.17 336667 chr3 3133990 3133990 G A rs146961931 IL5RA Synonymous SNV Y304Y 0 0 0.003 0 0 0 0 1 0 0 0 0 0.1 336668 chr3 31674522 31674522 A G rs199705128 STT3B Synonymous SNV T761T 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 6.854 336669 chr3 37368386 37368386 C T rs780942302 GOLGA4 Nonsynonymous SNV T1670I 0 0 0.003 0 0 0 0 1 0 0 0 0 11.74 336670 chr3 3886878 3886878 C T rs142381203 LRRN1 Nonsynonymous SNV R185C 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336671 chr3 47454312 47454312 G A rs780885056 PTPN23 Synonymous SNV P1390P 0 0 0.003 0 0 0 0 1 0 0 0 0 2.329 336672 chr3 48605533 48605533 C T rs368529673 COL7A1 Nonsynonymous SNV R2622Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Pathogenic 34 336673 chr3 48694642 48694642 G A CELSR3 Synonymous SNV L1296L 0 0 0.003 0 0 0 0 1 0 0 0 0 8.958 336674 chr3 49693330 49693330 G A rs199653836 BSN Nonsynonymous SNV R2114Q 0 0 0.003 0 0 0 0 1 0 0 0 0 23.1 336675 chr3 51429694 51429694 G A RBM15B Synonymous SNV L288L 0 0 0.003 0 0 0 0 1 0 0 0 0 7.334 336676 chr3 52812514 52812514 C T rs761414985 ITIH1 Synonymous SNV D99D 0 0 0.003 0 0 0 0 1 0 0 0 0 12.43 336677 chr3 52836693 52836693 A G rs200770658 ITIH3 Nonsynonymous SNV D527G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.4 336678 chr3 53159938 53159938 C T rs141174358 RFT1 Nonsynonymous SNV V46I 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 9.211 336679 chr4 100239282 100239282 G T ADH1B Synonymous SNV T60T 0 0 0.003 0 0 0 0 1 0 0 0 0 1.254 336680 chr4 123168372 123168372 G C rs200778020 KIAA1109 Nonsynonymous SNV R1791T 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 336681 chr4 169169368 169169368 C G DDX60 Nonsynonymous SNV V1312L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.7 336682 chr4 5642255 5642255 G A rs780919705 EVC2 Nonsynonymous SNV R406C 0 0 0.003 0 0 0 0 1 0 0 0 0 22.8 336683 chr4 6107451 6107451 C G JAKMIP1 Nonsynonymous SNV A125P 0 0 0.003 0 0 0 0 1 0 0 0 0 18.09 336684 chr4 677542 677542 G A rs149591230 SLC49A3 Synonymous SNV S165S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.407 336685 chr4 76489369 76489369 C T rs374774709 ODAPH Nonsynonymous SNV A38V 0 0 0.003 0 0 0 0 1 0 0 0 0 6.804 336686 chr4 88359472 88359472 G A rs771358139 NUDT9 Nonsynonymous SNV V131I 0 0 0.003 0 0 0 0 1 0 0 0 0 17.59 336687 chr4 90816167 90816167 T C rs748680667 MMRN1 Synonymous SNV S15S 0 0 0.003 0 0 0 0 1 0 0 0 0 8.839 336688 chr4 981630 981630 C T rs121965022 IDUA Synonymous SNV Y64Y 0 0 0.003 0 0 0 0 1 0 0 0 0 14.86 336689 chr5 118970255 118970255 T C FAM170A Nonsynonymous SNV M224T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.017 336690 chr5 125912868 125912868 C T rs61757685 ALDH7A1 Nonsynonymous SNV V185I 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 17.22 336691 chr5 13864593 13864593 G A rs138157585 DNAH5 Synonymous SNV T1503T 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign/Likely benign 8.251 336692 chr5 138651825 138651825 A T MATR3 Synonymous SNV P71P 0 0 0.003 0 0 0 0 1 0 0 0 0 12.59 336693 chr5 141337331 141337331 G A rs201456518 PCDH12 Nonsynonymous SNV T29I 0 0 0.003 0 0 0 0 1 0 0 0 0 24.5 336694 chr5 148418007 148418007 C G SH3TC2 Nonsynonymous SNV K284N 0 0 0.003 0 0 0 0 1 0 0 0 0 15.85 336695 chr5 151775141 151775141 G A rs10055345 NMUR2 Synonymous SNV V272V 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 11.24 336696 chr5 153674474 153674474 C T rs559479869 GALNT10 Synonymous SNV R86R 0 0 0.003 0 0 0 0 1 0 0 0 0 12.71 336697 chr5 156915440 156915440 G A ADAM19 Nonsynonymous SNV P795S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.4 336698 chr5 159834981 159834981 T C SLU7 Nonsynonymous SNV D320G 0 0 0.003 0 0 0 0 1 0 0 0 0 24.9 336699 chr5 174110 174110 A T PLEKHG4B Nonsynonymous SNV K1433N 0 0 0.003 0 0 0 0 1 0 0 0 0 23.6 336700 chr5 176025132 176025132 G A rs756514446 GPRIN1 Synonymous SNV D568D 0 0 0.003 0 0 0 0 1 0 0 0 0 0.022 336701 chr5 39202776 39202776 G T rs754251823 FYB1 Nonsynonymous SNV A106D 0 0 0.003 0 0 0 0 1 0 0 0 0 6.983 336702 chr5 79855617 79855617 - T rs750012958 ANKRD34B Frameshift insertion N74Kfs*26 0 0 0.003 0 0 0 0 1 0 0 0 0 336703 chr5 87968858 87968858 G C rs564694309 LINC00461 0 0 0.003 0 0 0 0 1 0 0 0 0 14.43 336704 chr5 9052061 9052061 C A rs143350960 SEMA5A Synonymous SNV L923L 0 0 0.003 0 0 0 0 1 0 0 0 0 12.57 336705 chr5 94936743 94936743 C T rs763396857 ARSK Nonsynonymous SNV S430L 0 0 0.003 0 0 0 0 1 0 0 0 0 23.2 336706 chr6 10410550 10410550 T G TFAP2A Nonsynonymous SNV S16R 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 336707 chr6 134373522 134373522 C T rs200104379 SLC2A12 Nonsynonymous SNV A33T 0 0 0.003 0 0 0 0 1 0 0 0 0 15.14 336708 chr6 167570495 167570495 A G GPR31 Synonymous SNV S275S 0 0 0.003 0 0 0 0 1 0 0 0 0 0.009 336709 chr6 26368461 26368461 C A rs772893324 BTN3A2 Synonymous SNV S17S 0 0 0.003 0 0 0 0 1 0 0 0 0 11.04 336710 chr6 26368465 26368465 C T rs778277908 BTN3A2 Nonsynonymous SNV L19F 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336711 chr6 26393000 26393000 C A rs759038926 BTN2A2 Nonsynonymous SNV F249L 0 0 0.003 0 0 0 0 1 0 0 0 0 29.9 336712 chr6 34823452 34823452 G A rs767741692 UHRF1BP1 Synonymous SNV A364A 0 0 0.003 0 0 0 0 1 0 0 0 0 15.32 336713 chr6 34826249 34826249 G C rs188264053 UHRF1BP1 Nonsynonymous SNV E706Q 0 0 0.003 0 0 0 0 1 0 0 0 0 25.3 336714 chr6 43173831 43173831 A G rs756581760 CUL9 Nonsynonymous SNV N1627S 0 0 0.003 0 0 0 0 1 0 0 0 0 19.85 336715 chr6 56458949 56458949 T C rs200855949 DST Nonsynonymous SNV I1457V 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336716 chr6 74079064 74079064 C T OOEP Nonsynonymous SNV A79T 0 0 0.003 0 0 0 0 1 0 0 0 0 13.11 336717 chr7 103155723 103155723 G A rs777057396 RELN Synonymous SNV S2676S 0 0 0.003 0 0 0 0 1 0 0 0 0 Likely benign 14.88 336718 chr7 105254966 105254966 G T ATXN7L1 Synonymous SNV S481S 0 0 0.003 0 0 0 0 1 0 0 0 0 6.905 336719 chr7 117365242 117365242 A G CTTNBP2 Synonymous SNV S1357S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.96 336720 chr7 120387836 120387836 C T KCND2 Nonsynonymous SNV T606I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.21 336721 chr7 149475128 149475128 C T rs376962199 SSPO 0 0 0.003 0 0 0 0 1 0 0 0 0 12.04 336722 chr7 20685486 20685486 G A rs1029195449 ABCB5 Synonymous SNV Q262Q 0 0 0.003 0 0 0 0 1 0 0 0 0 8.09 336723 chr7 23180530 23180530 C T KLHL7 Synonymous SNV N195N 0 0 0.003 0 0 0 0 1 0 0 0 0 13.35 336724 chr7 30536816 30536816 C T rs115910467 GGCT Nonsynonymous SNV R108H 0 0 0.003 0 0 0 0 1 0 0 0 0 Benign 17.43 336725 chr7 38534059 38534059 G A rs776200425 AMPH Nonsynonymous SNV R92W 0 0 0.003 0 0 0 0 1 0 0 0 0 35 336726 chr7 50611651 50611651 C T rs755313812 DDC Nonsynonymous SNV A45T 0 0 0.003 0 0 0 0 1 0 0 0 0 0.001 336727 chr7 65552767 65552767 G A rs764602422 ASL Nonsynonymous SNV R210Q 0 0 0.003 0 0 0 0 1 0 0 0 0 Uncertain significance 34 336728 chr7 75189125 75189125 T C rs141348376 HIP1 Nonsynonymous SNV D429G 0 0 0.003 0 0 0 0 1 0 0 0 0 23.5 336729 chr7 86781547 86781547 G - LOC101927420 0 0 0.003 0 0 0 0 1 0 0 0 0 336730 chr7 87792472 87792472 G A ADAM22 Nonsynonymous SNV G684S 0 0 0.003 0 0 0 0 1 0 0 0 0 22.5 336731 chr7 88963165 88963165 G T ZNF804B Nonsynonymous SNV S290I 0 0 0.003 0 0 0 0 1 0 0 0 0 19.81 336732 chr7 938573 938573 G A rs772975401 ADAP1 Synonymous SNV F275F 0 0 0.003 0 0 0 0 1 0 0 0 0 7.734 336733 chr7 95849038 95849038 T C MIR591 0 0 0.003 0 0 0 0 1 0 0 0 0 3.1 336734 chr7 98961242 98961242 A G rs187296347 ARPC1A Nonsynonymous SNV I340V 0 0 0.003 0 0 0 0 1 0 0 0 0 18.12 336735 chr8 123965573 123965573 A G rs150834154 ZHX2 Nonsynonymous SNV N608S 0 0 0.003 0 0 0 0 1 0 0 0 0 5.758 336736 chr8 133764093 133764093 T C TMEM71 Synonymous SNV K84K 0 0 0.003 0 0 0 0 1 0 0 0 0 0.002 336737 chr8 139890294 139890294 G T rs371320801 COL22A1 Nonsynonymous SNV D119E 0 0 0.003 0 0 0 0 1 0 0 0 0 10.34 336738 chr8 145737687 145737687 C T RECQL4 Nonsynonymous SNV V1026M 0 0 0.003 0 0 0 0 1 0 0 0 0 28.5 336739 chr8 146201743 146201743 G A rs750471168 ZNF252P 0 0 0.003 0 0 0 0 1 0 0 0 0 0.547 336740 chr8 36722008 36722008 A G rs202071452 KCNU1 Nonsynonymous SNV S660G 0 0 0.003 0 0 0 0 1 0 0 0 0 0.042 336741 chr8 8235406 8235406 G A rs372912459 PRAG1 Synonymous SNV G171G 0 0 0.003 0 0 0 0 1 0 0 0 0 6.262 336742 chr8 87878748 87878748 G T CNBD1 Nonsynonymous SNV A9S 0 0 0.003 0 0 0 0 1 0 0 0 0 7.321 336743 chr8 90949286 90949286 T C rs200452212 NBN Synonymous SNV A734A 0 0 0.003 0 0 0 0 1 0 0 0 0 Conflicting interpretations of pathogenicity 6.91 336744 chr8 97398216 97398216 A G LOC102724804 0 0 0.003 0 0 0 0 1 0 0 0 0 9.505 336745 chr9 100672298 100672298 A C rs754021759 TRMO Stop gain L337X 0 0 0.003 0 0 0 0 1 0 0 0 0 38 336746 chr9 101824294 101824294 G A rs146027381 COL15A1 Synonymous SNV A1148A 0 0 0.003 0 0 0 0 1 0 0 0 0 9.03 336747 chr9 109692820 109692820 A G rs139184113 ZNF462 Synonymous SNV L1089L 0 0 0.003 0 0 0 0 1 0 0 0 0 3.401 336748 chr9 119582898 119582898 G A rs747342135 ASTN2 Synonymous SNV C684C 0 0 0.003 0 0 0 0 1 0 0 0 0 12.81 336749 chr9 124080964 124080964 G A rs751431867 GSN Nonsynonymous SNV G384S 0 0 0.003 0 0 0 0 1 0 0 0 0 27.1 336750 chr9 130117638 130117638 C A rs145626536 GARNL3 Synonymous SNV R608R 0 0 0.003 0 0 0 0 1 0 0 0 0 18.64 336751 chr9 130165960 130165960 C T rs767054400 SLC2A8 Nonsynonymous SNV R86W 0 0 0.003 0 0 0 0 1 0 0 0 0 19.11 336752 chr9 131735465 131735465 T C rs148364986 NUP188 Synonymous SNV C380C 0 0 0.003 0 0 0 0 1 0 0 0 0 2.935 336753 chr9 17787472 17787472 T C SH3GL2 Synonymous SNV P142P 0 0 0.003 0 0 0 0 1 0 0 0 0 1.783 336754 chr9 18680497 18680497 G A rs766999969 ADAMTSL1 Nonsynonymous SNV A442T 0 0 0.003 0 0 0 0 1 0 0 0 0 33 336755 chr9 2718339 2718339 C T KCNV2 Synonymous SNV R200R 0 0 0.003 0 0 0 0 1 0 0 0 0 10.28 336756 chr9 5920063 5920063 G C rs368033565 KIAA2026 Nonsynonymous SNV T1978R 0 0 0.003 0 0 0 0 1 0 0 0 0 14.42 336757 chr10 104161032 104161032 G A rs199577673 NFKB2 Nonsynonymous SNV D723N 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 20.9 336758 chr10 105807855 105807855 A C rs149841873 COL17A1 Synonymous SNV A745A 0 0 0 0 0 0 0 0 0 0 0 0 Benign 11.64 336759 chr10 105813681 105813681 C T rs141307271 COL17A1 Nonsynonymous SNV V611M 0 0 0 0 0 0 0 0 0 0 0 0 13.94 336760 chr10 105923917 105923917 C T rs142256935 CFAP43 Nonsynonymous SNV V1061I 0 0 0 0 0 0 0 0 0 0 0 0 9.549 336761 chr10 105971860 105971860 - AAC CFAP43 V213_F214insV 0 0 0 0 0 0 0 0 0 0 0 0 336762 chr10 126092426 126092426 C T rs200325281 OAT Nonsynonymous SNV V131I 0 0 0 0 0 0 0 0 0 0 0 0 24.8 336763 chr10 134730168 134730168 G A rs375330278 CFAP46 Nonsynonymous SNV R669W 0 0 0 0 0 0 0 0 0 0 0 0 28.1 336764 chr10 27702851 27702851 T C PTCHD3 Nonsynonymous SNV H110R 0 0 0 0 0 0 0 0 0 0 0 0 0.001 336765 chr10 3143135 3143135 G A rs199836689 PFKP Synonymous SNV R61R 0 0 0 0 0 0 0 0 0 0 0 0 4.792 336766 chr10 67680226 67680226 C T rs138237676 CTNNA3 Nonsynonymous SNV M850I 0 0 0 0 0 0 0 0 0 0 0 0 24.7 336767 chr10 70863740 70863740 C T rs149209475 SRGN Nonsynonymous SNV T58M 0 0 0 0 0 0 0 0 0 0 0 0 23.2 336768 chr10 70930963 70930963 A G rs61750775 VPS26A Nonsynonymous SNV N197D 0 0 0 0 0 0 0 0 0 0 0 0 8.693 336769 chr10 88854490 88854490 G A GLUD1 Nonsynonymous SNV R13W 0 0 0 0 0 0 0 0 0 0 0 0 23.3 336770 chr11 113816650 113816650 G C HTR3B Nonsynonymous SNV A362P 0 0 0 0 0 0 0 0 0 0 0 0 18.42 336771 chr11 117265203 117265203 G A CEP164 Synonymous SNV R921R 0 0 0 0 0 0 0 0 0 0 0 0 11.99 336772 chr11 117376304 117376304 C T DSCAML1 Nonsynonymous SNV V643M 0 0 0 0 0 0 0 0 0 0 0 0 32 336773 chr11 118375931 118375931 C G KMT2A Synonymous SNV T3108T 0 0 0 0 0 0 0 0 0 0 0 0 4.959 336774 chr11 118390409 118390409 G C KMT2A Nonsynonymous SNV K3741N 0 0 0 0 0 0 0 0 0 0 0 0 24.4 336775 chr11 125647341 125647341 G A rs200971233 PATE2 Nonsynonymous SNV T93M 0 0 0 0 0 0 0 0 0 0 0 0 21.7 336776 chr11 1261551 1261551 C T MUC5B Nonsynonymous SNV P1306S 0 0 0 0 0 0 0 0 0 0 0 0 4.617 336777 chr11 128843296 128843296 G A rs143245403 ARHGAP32 Synonymous SNV S672S 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 13.2 336778 chr11 34160778 34160778 C T rs137942423 NAT10 Nonsynonymous SNV T679M 0 0 0 0 0 0 0 0 0 0 0 0 20.5 336779 chr11 34916576 34916576 C G rs148981873 APIP Nonsynonymous SNV G47R 0 0 0 0 0 0 0 0 0 0 0 0 34 336780 chr11 46726064 46726064 C T rs138812940 ZNF408 Nonsynonymous SNV P264S 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 7.27 336781 chr11 621885 621885 A G CDHR5 Nonsynonymous SNV F111S 0 0 0 0 0 0 0 0 0 0 0 0 21 336782 chr11 62284792 62284792 C T rs111551528 AHNAK Synonymous SNV E5699E 0 0 0 0 0 0 0 0 0 0 0 0 Benign 10.09 336783 chr11 64119059 64119059 C T rs369212327 CCDC88B Nonsynonymous SNV R1024W 0 0 0 0 0 0 0 0 0 0 0 0 34 336784 chr11 64814982 64814982 - GCCCAGGAAGTGAACGAAGGGTGCATAGTCGCTGCCAGCACCCAGAGA NAALADL1 G521_I522insSLGAGSDYAPFVHFLG 0 0 0 0 0 0 0 0 0 0 0 0 336785 chr11 64854522 64854522 G A rs144327547 ZFPL1 Nonsynonymous SNV G202S 0 0 0 0 0 0 0 0 0 0 0 0 17.33 336786 chr11 85436946 85436946 C T rs759821731 SYTL2 Nonsynonymous SNV G1152D 0 0 0 0 0 0 0 0 0 0 0 0 24.5 336787 chr11 9878249 9878249 G C SBF2 Nonsynonymous SNV H707D 0 0 0 0 0 0 0 0 0 0 0 0 1.666 336788 chr12 107393589 107393589 G A rs775955499 CRY1 Nonsynonymous SNV R293C 0 0 0 0 0 0 0 0 0 0 0 0 33 336789 chr12 111085688 111085688 G A rs370246838 TCTN1 Synonymous SNV P536P 0 0 0 0 0 0 0 0 0 0 0 0 11.67 336790 chr12 122691727 122691727 T G B3GNT4 Nonsynonymous SNV M285R 0 0 0 0 0 0 0 0 0 0 0 0 23.3 336791 chr12 124109351 124109351 C T rs375037006 EIF2B1 Nonsynonymous SNV G204R 0 0 0 0 0 0 0 0 0 0 0 0 35 336792 chr12 124848332 124848332 T C rs777015163 NCOR2 Nonsynonymous SNV R923G 0 0 0 0 0 0 0 0 0 0 0 0 25.7 336793 chr12 133795486 133795486 C T ANHX Synonymous SNV G375G 0 0 0 0 0 0 0 0 0 0 0 0 18.71 336794 chr12 21628674 21628674 T A rs200764372 RECQL Nonsynonymous SNV H345L 0 0 0 0 0 0 0 0 0 0 0 0 32 336795 chr12 48866817 48866817 G A rs753906042 ANP32D Nonsynonymous SNV E124K 0 0 0 0 0 0 0 0 0 0 0 0 23 336796 chr12 49212745 49212745 G A rs150046044 CACNB3 Synonymous SNV E11E 0 0 0 0 0 0 0 0 0 0 0 0 11.06 336797 chr12 49436005 49436005 C T rs77794669 KMT2D Synonymous SNV E1992E 0 0 0 0 0 0 0 0 0 0 0 0 Benign 13.01 336798 chr12 54757475 54757475 C T rs147285081 GPR84 Nonsynonymous SNV R54Q 0 0 0 0 0 0 0 0 0 0 0 0 24.6 336799 chr12 56579972 56579972 G C rs757076180 SMARCC2 Nonsynonymous SNV A95G 0 0 0 0 0 0 0 0 0 0 0 0 14.4 336800 chr12 7045305 7045305 C G rs201762823 ATN1 Nonsynonymous SNV A292G 0 0 0 0 0 0 0 0 0 0 0 0 11.54 336801 chr12 85264300 85264300 C T rs138703696 SLC6A15 Synonymous SNV T377T 0 0 0 0 0 0 0 0 0 0 0 0 16.64 336802 chr13 108861152 108861152 G A rs141441003 LIG4 Nonsynonymous SNV S822L 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 8.413 336803 chr13 113798236 113798236 G A rs3211783 F10 Nonsynonymous SNV G148R 0 0 0 0 0 0 0 0 0 0 0 0 Benign 5.433 336804 chr13 113803479 113803479 G C rs142699098 F10 Nonsynonymous SNV R328P 0 0 0 0 0 0 0 0 0 0 0 0 Benign 20.9 336805 chr13 28644672 28644672 T C rs139579569 FLT3 Nonsynonymous SNV K41E 0 0 0 0 0 0 0 0 0 0 0 0 16.83 336806 chr13 32907401 32907401 G C rs56328701 BRCA2 Nonsynonymous SNV D596H 0 0 0 0 0 0 0 0 0 0 0 0 Benign 24.9 336807 chr13 93518591 93518591 G A rs778742068 GPC5 Nonsynonymous SNV G540S 0 0 0 0 0 0 0 0 0 0 0 0 19.71 336808 chr14 23239116 23239116 G A rs770712921 OXA1L Nonsynonymous SNV A186T 0 0 0 0 0 0 0 0 0 0 0 0 32 336809 chr14 33290642 33290642 A C rs200476939 AKAP6 Nonsynonymous SNV D1208A 0 0 0 0 0 0 0 0 0 0 0 0 21.3 336810 chr14 37050153 37050153 G A rs772574736 NKX2-8 Nonsynonymous SNV A225V 0 0 0 0 0 0 0 0 0 0 0 0 20.3 336811 chr14 44975346 44975346 T C FSCB Nonsynonymous SNV E282G 0 0 0 0 0 0 0 0 0 0 0 0 22.7 336812 chr14 50100159 50100159 A G DNAAF2 Nonsynonymous SNV F570S 0 0 0 0 0 0 0 0 0 0 0 0 26.7 336813 chr14 52433369 52433369 G A rs200874671 GNG2 Synonymous SNV P60P 0 0 0 0 0 0 0 0 0 0 0 0 9.114 336814 chr14 60027909 60027909 T C rs748803886 CCDC175 Nonsynonymous SNV H294R 0 0 0 0 0 0 0 0 0 0 0 0 0.003 336815 chr14 64564679 64564679 C T rs146197259 SYNE2 Nonsynonymous SNV R4041C 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 20.7 336816 chr14 64591797 64591797 G A rs200498250 SYNE2 Nonsynonymous SNV V4475I 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 13.75 336817 chr14 71204963 71204963 C G rs370186142 MAP3K9 Nonsynonymous SNV G357R 0 0 0 0 0 0 0 0 0 0 0 0 24 336818 chr14 73637521 73637521 G A rs63750592 PSEN1 Nonsynonymous SNV R35Q 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.6 336819 chr14 93282731 93282731 A G rs34139657 GOLGA5 Nonsynonymous SNV M486V 0 0 0 0 0 0 0 0 0 0 0 0 13.73 336820 chr14 94756847 94756847 C T rs758769939 SERPINA10 Synonymous SNV S28S 0 0 0 0 0 0 0 0 0 0 0 0 11.38 336821 chr14 96794716 96794716 T C ATG2B Nonsynonymous SNV M711V 0 0 0 0 0 0 0 0 0 0 0 0 10.95 336822 chr15 101016362 101016362 A G CERS3 Nonsynonymous SNV W180R 0 0 0 0 0 0 0 0 0 0 0 0 27.3 336823 chr15 22833525 22833525 A G rs371033972 TUBGCP5 Star tloss M1? 0 0 0 0 0 0 0 0 0 0 0 0 16.67 336824 chr15 40685714 40685714 C T rs186157950 KNSTRN Synonymous SNV F289F 0 0 0 0 0 0 0 0 0 0 0 0 14.4 336825 chr15 48059279 48059279 G A rs777380933 SEMA6D Nonsynonymous SNV G585D 0 0 0 0 0 0 0 0 0 0 0 0 13.05 336826 chr15 70949453 70949453 T C UACA Nonsynonymous SNV E1385G 0 0 0 0 0 0 0 0 0 0 0 0 27.5 336827 chr15 81593720 81593720 C A IL16 Nonsynonymous SNV T361K 0 0 0 0 0 0 0 0 0 0 0 0 12.95 336828 chr15 85164340 85164340 C G ZSCAN2 Nonsynonymous SNV P305R 0 0 0 0 0 0 0 0 0 0 0 0 26.9 336829 chr15 85224008 85224008 G A SEC11A Stop gain R73X 0 0 0 0 0 0 0 0 0 0 0 0 41 336830 chr15 91303941 91303941 A G BLM Synonymous SNV T446T 0 0 0 0 0 0 0 0 0 0 0 0 0.018 336831 chr16 1261231 1261231 C A rs371310397 CACNA1H Synonymous SNV P1429P 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 15.45 336832 chr16 1841653 1841653 C T rs758088919 IGFALS Nonsynonymous SNV A294T 0 0 0 0 0 0 0 0 0 0 0 0 0.046 336833 chr16 19619530 19619530 C T rs3208064 VPS35L Nonsynonymous SNV T272M 0 0 0 0 0 0 0 0 0 0 0 0 31 336834 chr16 23698851 23698851 - GGT PLK1 G367_E368insG 0 0 0 0 0 0 0 0 0 0 0 0 336835 chr16 2498959 2498959 G A rs754242856 CCNF Nonsynonymous SNV A92T 0 0 0 0 0 0 0 0 0 0 0 0 15.99 336836 chr16 28509809 28509809 C T rs765766783 APOBR Nonsynonymous SNV R1093W 0 0 0 0 0 0 0 0 0 0 0 0 23.1 336837 chr16 30529143 30529143 G A rs59353760 ITGAL Nonsynonymous SNV R936H 0 0 0 0 0 0 0 0 0 0 0 0 Benign 20.2 336838 chr16 3569979 3569979 A G CLUAP1 Nonsynonymous SNV K53R 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 23.4 336839 chr16 46617949 46617949 C T rs375325538 SHCBP1 Nonsynonymous SNV G428E 0 0 0 0 0 0 0 0 0 0 0 0 10.74 336840 chr16 48234316 48234316 G A rs139564847 ABCC11 Synonymous SNV D651D 0 0 0 0 0 0 0 0 0 0 0 0 0.097 336841 chr16 53265361 53265361 G C CHD9 Nonsynonymous SNV V773L 0 0 0 0 0 0 0 0 0 0 0 0 27.1 336842 chr16 57760834 57760834 G A rs559243056 DRC7 Nonsynonymous SNV V624I 0 0 0 0 0 0 0 0 0 0 0 0 16.96 336843 chr16 75268923 75268923 G A rs61736821 BCAR1 Nonsynonymous SNV P415L 0 0 0 0 0 0 0 0 0 0 0 0 13.87 336844 chr16 77769382 77769382 C T rs570753811 NUDT7 Nonsynonymous SNV A94V 0 0 0 0 0 0 0 0 0 0 0 0 6.488 336845 chr16 84225021 84225021 C T rs372481052 ADAD2 Nonsynonymous SNV S62L 0 0 0 0 0 0 0 0 0 0 0 0 20.3 336846 chr16 84522931 84522931 - G rs758076949 MEAK7 Frameshift insertion R161Pfs*12 0 0 0 0 0 0 0 0 0 0 0 0 336847 chr16 85715216 85715216 T C rs745661946 GINS2 Nonsynonymous SNV M93V 0 0 0 0 0 0 0 0 0 0 0 0 13.66 336848 chr16 89776301 89776301 C T rs200669168 VPS9D1 Synonymous SNV S424S 0 0 0 0 0 0 0 0 0 0 0 0 18.52 336849 chr16 89977051 89977051 T A rs143933057 TCF25 Nonsynonymous SNV L618M 0 0 0 0 0 0 0 0 0 0 0 0 4.36 336850 chr16 9186847 9186847 A G rs374431071 C16orf72 Nonsynonymous SNV N99S 0 0 0 0 0 0 0 0 0 0 0 0 16.19 336851 chr17 10441075 10441075 C T MYH2 Synonymous SNV V498V 0 0 0 0 0 0 0 0 0 0 0 0 15.1 336852 chr17 10728602 10728602 T C PIRT Nonsynonymous SNV R121G 0 0 0 0 0 0 0 0 0 0 0 0 23.1 336853 chr17 1383836 1383836 G C rs754277973 MYO1C Synonymous SNV T297T 0 0 0 0 0 0 0 0 0 0 0 0 5.553 336854 chr17 1936837 1936837 C G rs944097537 DPH1 Nonsynonymous SNV P39A 0 0 0 0 0 0 0 0 0 0 0 0 9.733 336855 chr17 27889748 27889748 C T rs150816352 ABHD15 Nonsynonymous SNV R413Q 0 0 0 0 0 0 0 0 0 0 0 0 23.6 336856 chr17 28380413 28380413 C G rs116666354 EFCAB5 Nonsynonymous SNV Q425E 0 0 0 0 0 0 0 0 0 0 0 0 0.069 336857 chr17 30821827 30821827 C T rs147027471 MYO1D Nonsynonymous SNV D991N 0 0 0 0 0 0 0 0 0 0 0 0 23.1 336858 chr17 3844344 3844344 C T rs144535413 ATP2A3 Nonsynonymous SNV R674H 0 0 0 0 0 0 0 0 0 0 0 0 23.4 336859 chr17 38928243 38928243 G T KRT26 Nonsynonymous SNV S41R 0 0 0 0 0 0 0 0 0 0 0 0 13.63 336860 chr17 42981799 42981799 C T FAM187A Nonsynonymous SNV S201F 0 0 0 0 0 0 0 0 0 0 0 0 12.04 336861 chr17 45915927 45915927 T C rs530726051 SCRN2 Nonsynonymous SNV H303R 0 0 0 0 0 0 0 0 0 0 0 0 24.8 336862 chr17 55183450 55183450 G A rs150670980 AKAP1 Nonsynonymous SNV V209M 0 0 0 0 0 0 0 0 0 0 0 0 10.17 336863 chr17 59938865 59938865 C A rs45566938 BRIP1 Synonymous SNV G12G 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.65 336864 chr17 60767544 60767544 A G MRC2 Nonsynonymous SNV Y1257C 0 0 0 0 0 0 0 0 0 0 0 0 27.1 336865 chr17 648671 648671 C T rs755795802 GEMIN4 Nonsynonymous SNV R871H 0 0 0 0 0 0 0 0 0 0 0 0 3.466 336866 chr17 66879986 66879986 C T rs34104553 ABCA8 Nonsynonymous SNV R1178Q 0 0 0 0 0 0 0 0 0 0 0 0 24 336867 chr17 72366695 72366695 C G rs2382647 GPR142 Nonsynonymous SNV H44D 0 0 0 0 0 0 0 0 0 0 0 0 12.35 336868 chr17 80159580 80159580 C A rs549212477 CCDC57 Nonsynonymous SNV A81S 0 0 0 0 0 0 0 0 0 0 0 0 23.8 336869 chr18 46905016 46905016 C T rs35357262 DYM Synonymous SNV L114L 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 11.9 336870 chr18 55103226 55103234 CGGCGGCAG - rs763362279 ONECUT2 A99_A101del 0 0 0 0 0 0 0 0 0 0 0 0 336871 chr18 60645911 60645911 G A rs564548477 PHLPP1 Synonymous SNV P1467P 0 0 0 0 0 0 0 0 0 0 0 0 8.789 336872 chr18 9950496 9950496 A G rs199675685 VAPA Synonymous SNV K174K 0 0 0 0 0 0 0 0 0 0 0 0 9.916 336873 chr19 14523444 14523444 C T DDX39A Synonymous SNV L85L 0 0 0 0 0 0 0 0 0 0 0 0 16.83 336874 chr19 16986974 16986974 G A rs771971309 SIN3B Nonsynonymous SNV A491T 0 0 0 0 0 0 0 0 0 0 0 0 23.1 336875 chr19 18377826 18377826 T C IQCN Nonsynonymous SNV H175R 0 0 0 0 0 0 0 0 0 0 0 0 0.003 336876 chr19 19304888 19304888 T C rs769234114 RFXANK Nonsynonymous SNV C45R 0 0 0 0 0 0 0 0 0 0 0 0 20.6 336877 chr19 23543012 23543012 T C ZNF91 Synonymous SNV S891S 0 0 0 0 0 0 0 0 0 0 0 0 0.097 336878 chr19 2408427 2408427 C T rs142962468 TMPRSS9 Nonsynonymous SNV R272W 0 0 0 0 0 0 0 0 0 0 0 0 25.7 336879 chr19 33608799 33608799 G A rs199668287 GPATCH1 Synonymous SNV R755R 0 0 0 0 0 0 0 0 0 0 0 0 13.52 336880 chr19 34791534 34791534 C T rs757458282 KIAA0355 Synonymous SNV A52A 0 0 0 0 0 0 0 0 0 0 0 0 12.61 336881 chr19 3547875 3547875 G T MFSD12 Nonsynonymous SNV H261N 0 0 0 0 0 0 0 0 0 0 0 0 4.295 336882 chr19 35657168 35657168 C T rs200435409 FXYD5 Nonsynonymous SNV R112W 0 0 0 0 0 0 0 0 0 0 0 0 35 336883 chr19 3964664 3964664 G A rs138837322 DAPK3 Synonymous SNV L130L 0 0 0 0 0 0 0 0 0 0 0 0 4.631 336884 chr19 40832382 40832382 G A rs370425570 C19orf47 Nonsynonymous SNV R188C 0 0 0 0 0 0 0 0 0 0 0 0 23.3 336885 chr19 45593723 45593723 G A rs765200721 GEMIN7 Synonymous SNV A117A 0 0 0 0 0 0 0 0 0 0 0 0 16.74 336886 chr19 45852126 45852126 C T rs202191282 KLC3 Nonsynonymous SNV R306C 0 0 0 0 0 0 0 0 0 0 0 0 34 336887 chr19 50100723 50100723 C T rs751681501 PRR12 Nonsynonymous SNV P1044L 0 0 0 0 0 0 0 0 0 0 0 0 20.8 336888 chr19 50453301 50453301 T G rs749565953 SIGLEC11 Nonsynonymous SNV T579P 0 0 0 0 0 0 0 0 0 0 0 0 0.005 336889 chr19 52196815 52196815 T G rs941170688 SPACA6 Synonymous SNV S12S 0 0 0 0 0 0 0 0 0 0 0 0 3.266 336890 chr19 59022873 59022873 G A rs200537300 SLC27A5 Synonymous SNV A150A 0 0 0 0 0 0 0 0 0 0 0 0 7.379 336891 chr19 6472940 6472940 G A DENND1C Nonsynonymous SNV A329V 0 0 0 0 0 0 0 0 0 0 0 0 22.2 336892 chr19 9074841 9074841 T G rs770407247 MUC16 Nonsynonymous SNV K4202T 0 0 0 0 0 0 0 0 0 0 0 0 2.278 336893 chr19 9083626 9083626 G C rs200822446 MUC16 Nonsynonymous SNV S2730C 0 0 0 0 0 0 0 0 0 0 0 0 0.041 336894 chr1 109235278 109235278 C T rs150541219 PRPF38B Nonsynonymous SNV A22V 0 0 0 0 0 0 0 0 0 0 0 0 22.8 336895 chr1 12423243 12423243 A G rs554804193 VPS13D Nonsynonymous SNV N3438S 0 0 0 0 0 0 0 0 0 0 0 0 25.6 336896 chr1 151263465 151263465 G A rs762198505 ZNF687 Nonsynonymous SNV G1165D 0 0 0 0 0 0 0 0 0 0 0 0 18.71 336897 chr1 154919160 154919160 C T rs77880932 PBXIP1 Synonymous SNV E175E 0 0 0 0 0 0 0 0 0 0 0 0 11.23 336898 chr1 156702198 156702198 G A rs368662106 RRNAD1 Nonsynonymous SNV R121Q 0 0 0 0 0 0 0 0 0 0 0 0 20.6 336899 chr1 161068423 161068423 G A KLHDC9 Nonsynonymous SNV C33Y 0 0 0 0 0 0 0 0 0 0 0 0 25.7 336900 chr1 169438007 169438007 T G rs752541355 SLC19A2 Nonsynonymous SNV L165F 0 0 0 0 0 0 0 0 0 0 0 0 24.9 336901 chr1 17422446 17422446 G A rs367819228 PADI2 Synonymous SNV D123D 0 0 0 0 0 0 0 0 0 0 0 0 12.55 336902 chr1 201181951 201181951 C A IGFN1 Nonsynonymous SNV Q2644K 0 0 0 0 0 0 0 0 0 0 0 0 14.75 336903 chr1 21011380 21011380 C T rs779989905 KIF17 Nonsynonymous SNV R718K 0 0 0 0 0 0 0 0 0 0 0 0 0.128 336904 chr1 21072050 21072050 C T rs200339380 HP1BP3 Synonymous SNV P451P 0 0 0 0 0 0 0 0 0 0 0 0 21.1 336905 chr1 228494144 228494144 T G rs201781739 OBSCN Nonsynonymous SNV C3911G 0 0 0 0 0 0 0 0 0 0 0 0 23.6 336906 chr1 228612632 228612632 C T H3-4 Nonsynonymous SNV R132H 0 0 0 0 0 0 0 0 0 0 0 0 18.25 336907 chr1 22895806 22895806 T C rs147107186 EPHA8 Nonsynonymous SNV I40T 0 0 0 0 0 0 0 0 0 0 0 0 13.94 336908 chr1 232943457 232943457 T C rs778091117 MAP10 Synonymous SNV N896N 0 0 0 0 0 0 0 0 0 0 0 0 0.01 336909 chr1 24390563 24390563 G A rs372739261 MYOM3 Synonymous SNV D1207D 0 0 0 0 0 0 0 0 0 0 0 0 13.24 336910 chr1 247921546 247921546 G A rs200700400 OR1C1 Nonsynonymous SNV L55F 0 0 0 0 0 0 0 0 0 0 0 0 23.2 336911 chr1 26308901 26308901 G A rs745923084 PAFAH2 Nonsynonymous SNV T207I 0 0 0 0 0 0 0 0 0 0 0 0 5.199 336912 chr1 32167794 32167794 T A COL16A1 Star tloss M1? 0 0 0 0 0 0 0 0 0 0 0 0 20.7 336913 chr1 32205966 32205966 G A rs1025327158 ADGRB2 Synonymous SNV P657P 0 0 0 0 0 0 0 0 0 0 0 0 10.02 336914 chr1 3679199 3679199 G A rs150485951 CCDC27 Nonsynonymous SNV A293T 0 0 0 0 0 0 0 0 0 0 0 0 5.696 336915 chr1 38027772 38027772 G A rs200294729 DNALI1 Nonsynonymous SNV E223K 0 0 0 0 0 0 0 0 0 0 0 0 35 336916 chr1 53352685 53352685 C G rs892926677 ZYG11A Synonymous SNV L346L 0 0 0 0 0 0 0 0 0 0 0 0 13.04 336917 chr1 59042287 59042287 C T rs201655334 TACSTD2 Nonsynonymous SNV R181H 0 0 0 0 0 0 0 0 0 0 0 0 21.5 336918 chr1 60338581 60338581 A G rs752335206 HOOK1 Nonsynonymous SNV I711V 0 0 0 0 0 0 0 0 0 0 0 0 8.304 336919 chr1 6202220 6202220 T A CHD5 Nonsynonymous SNV I802F 0 0 0 0 0 0 0 0 0 0 0 0 24.2 336920 chr1 6202222 6202222 G A CHD5 Nonsynonymous SNV A801V 0 0 0 0 0 0 0 0 0 0 0 0 25.9 336921 chr1 66731742 66731742 G T rs780187281 PDE4B Nonsynonymous SNV Q187H 0 0 0 0 0 0 0 0 0 0 0 0 15.64 336922 chr1 82408658 82408658 G A ADGRL2 Nonsynonymous SNV V135M 0 0 0 0 0 0 0 0 0 0 0 0 24.4 336923 chr1 98348860 98348860 T C DPYD Nonsynonymous SNV D37G 0 0 0 0 0 0 0 0 0 0 0 0 17.25 336924 chr20 33588598 33588598 A C rs201800075 MYH7B Nonsynonymous SNV K1778Q 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 24.1 336925 chr20 35125163 35125163 C T DLGAP4 Synonymous SNV T29T 0 0 0 0 0 0 0 0 0 0 0 0 11.41 336926 chr20 37580897 37580897 A G rs779722508 FAM83D Nonsynonymous SNV R498G 0 0 0 0 0 0 0 0 0 0 0 0 12.34 336927 chr20 44642897 44642897 G A rs559776843 MMP9 Nonsynonymous SNV G629R 0 0 0 0 0 0 0 0 0 0 0 0 9.333 336928 chr20 52192945 52192945 G A ZNF217 Synonymous SNV S786S 0 0 0 0 0 0 0 0 0 0 0 0 10.59 336929 chr20 62194942 62194942 C G HELZ2 Nonsynonymous SNV V1176L 0 0 0 0 0 0 0 0 0 0 0 0 13.91 336930 chr20 9364916 9364916 C T rs78074693 PLCB4 Nonsynonymous SNV R308C 0 0 0 0 0 0 0 0 0 0 0 0 35 336931 chr21 43809080 43809080 C T rs143762350 TMPRSS3 Nonsynonymous SNV G94R 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 28.6 336932 chr22 19965501 19965501 G A rs139920129 ARVCF Nonsynonymous SNV R560W 0 0 0 0 0 0 0 0 0 0 0 0 32 336933 chr22 20785072 20785072 G C rs376815645 SCARF2 Synonymous SNV G326G 0 0 0 0 0 0 0 0 0 0 0 0 5.434 336934 chr22 22843190 22843190 G A rs140445347 ZNF280B Synonymous SNV F178F 0 0 0 0 0 0 0 0 0 0 0 0 0.296 336935 chr22 32108868 32108868 G A PRR14L Nonsynonymous SNV R1653C 0 0 0 0 0 0 0 0 0 0 0 0 26.3 336936 chr22 38151109 38151109 C T TRIOBP Nonsynonymous SNV A117V 0 0 0 0 0 0 0 0 0 0 0 0 32 336937 chr22 50197921 50197921 C T rs906260709 BRD1 Synonymous SNV L485L 0 0 0 0 0 0 0 0 0 0 0 0 9.114 336938 chr22 50894966 50894966 C T rs560672186 SBF1 Synonymous SNV P1322P 0 0 0 0 0 0 0 0 0 0 0 0 12.01 336939 chr2 119732113 119732113 A G rs750355940 MARCO Synonymous SNV Q195Q 0 0 0 0 0 0 0 0 0 0 0 0 0.054 336940 chr2 121747534 121747534 G C rs754251258 GLI2 Nonsynonymous SNV Q1206H 0 0 0 0 0 0 0 0 0 0 0 0 21.3 336941 chr2 149216410 149216410 G A rs201699340 MBD5 Nonsynonymous SNV R28H 0 0 0 0 0 0 0 0 0 0 0 0 29.7 336942 chr2 152359922 152359922 G A rs193224180 NEB Nonsynonymous SNV P6225S 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 24.7 336943 chr2 160879207 160879207 C T rs942749259 PLA2R1 Synonymous SNV E421E 0 0 0 0 0 0 0 0 0 0 0 0 14.05 336944 chr2 170366498 170366498 A G KLHL41 Synonymous SNV K70K 0 0 0 0 0 0 0 0 0 0 0 0 0.013 336945 chr2 175243739 175243739 G A rs980740793 CIR1 Synonymous SNV H132H 0 0 0 0 0 0 0 0 0 0 0 0 9.75 336946 chr2 196740475 196740475 C - DNAH7 Stop gain W2070* 0 0 0 0 0 0 0 0 0 0 0 0 336947 chr2 207482324 207482324 C T rs767066735 ADAM23 Synonymous SNV F824F 0 0 0 0 0 0 0 0 0 0 0 0 11.02 336948 chr2 219000075 219000075 G A rs760485215 CXCR2 Nonsynonymous SNV R184Q 0 0 0 0 0 0 0 0 0 0 0 0 24.5 336949 chr2 219883885 219883885 G T rs375107182 CFAP65 Nonsynonymous SNV P1164T 0 0 0 0 0 0 0 0 0 0 0 0 7.484 336950 chr2 220047168 220047168 A G RETREG2 Synonymous SNV E276E 0 0 0 0 0 0 0 0 0 0 0 0 3.111 336951 chr2 220102255 220102255 T C rs377210014 GLB1L Synonymous SNV L466L 0 0 0 0 0 0 0 0 0 0 0 0 0.01 336952 chr2 227983474 227983474 G A COL4A4 Nonsynonymous SNV H126Y 0 0 0 0 0 0 0 0 0 0 0 0 13.53 336953 chr2 228882043 228882043 A C rs770897653 SPHKAP Nonsynonymous SNV V1176G 0 0 0 0 0 0 0 0 0 0 0 0 23.6 336954 chr2 231775047 231775047 G A rs201730377 GPR55 Nonsynonymous SNV R211C 0 0 0 0 0 0 0 0 0 0 0 0 18.25 336955 chr2 239147736 239147736 C G rs557696613 HES6 Nonsynonymous SNV R134P 0 0 0 0 0 0 0 0 0 0 0 0 27.2 336956 chr2 26702471 26702471 G A rs376509813 OTOF Nonsynonymous SNV P655S 0 0 0 0 0 0 0 0 0 0 0 0 4.571 336957 chr2 43903159 43903159 G A rs766833135 C1GALT1C1L Synonymous SNV Y101Y 0 0 0 0 0 0 0 0 0 0 0 0 5.349 336958 chr2 70910879 70910879 G A rs782684502 ADD2 Synonymous SNV A339A 0 0 0 0 0 0 0 0 0 0 0 0 13.59 336959 chr3 121396282 121396282 G C rs150976072 GOLGB1 Synonymous SNV S2883S 0 0 0 0 0 0 0 0 0 0 0 0 5.211 336960 chr3 121413038 121413038 T C rs778931164 GOLGB1 Nonsynonymous SNV Q2031R 0 0 0 0 0 0 0 0 0 0 0 0 21.5 336961 chr3 124356082 124356082 G A rs34157843 KALRN Nonsynonymous SNV A168T 0 0 0 0 0 0 0 0 0 0 0 0 19 336962 chr3 156272867 156272867 T C rs749301866 SSR3 Synonymous SNV K4K 0 0 0 0 0 0 0 0 0 0 0 0 8.275 336963 chr3 185882704 185882704 G A rs546201700 DGKG Synonymous SNV C708C 0 0 0 0 0 0 0 0 0 0 0 0 11.78 336964 chr3 194325075 194325075 G A rs200954954 TMEM44 Nonsynonymous SNV R373W 0 0 0 0 0 0 0 0 0 0 0 0 27.5 336965 chr3 197556449 197556449 C T LRCH3 Synonymous SNV G264G 0 0 0 0 0 0 0 0 0 0 0 0 14.97 336966 chr3 38065837 38065837 G C PLCD1 Nonsynonymous SNV R30G 0 0 0 0 0 0 0 0 0 0 0 0 24.3 336967 chr3 43414282 43414282 G T rs146629436 ANO10 Nonsynonymous SNV P619T 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 1.826 336968 chr3 57631401 57631401 G A rs138748140 DENND6A Nonsynonymous SNV R342C 0 0 0 0 0 0 0 0 0 0 0 0 35 336969 chr4 118005544 118005544 T C TRAM1L1 Nonsynonymous SNV K336E 0 0 0 0 0 0 0 0 0 0 0 0 22.5 336970 chr4 123255552 123255552 A C rs748157618 KIAA1109 Synonymous SNV G3900G 0 0 0 0 0 0 0 0 0 0 0 0 2.674 336971 chr4 13616279 13616279 A G rs780621598 BOD1L1 Nonsynonymous SNV S239P 0 0 0 0 0 0 0 0 0 0 0 0 22.9 336972 chr4 142145762 142145762 C A rs141159055 ZNF330 Synonymous SNV R48R 0 0 0 0 0 0 0 0 0 0 0 0 18.53 336973 chr4 146475046 146475046 A G rs142898460 SMAD1 Nonsynonymous SNV T370A 0 0 0 0 0 0 0 0 0 0 0 0 24.4 336974 chr4 147560472 147560472 - GGC POU4F2 G68_R69insG 0 0 0 0 0 0 0 0 0 0 0 0 336975 chr4 155157746 155157746 C A rs747233189 DCHS2 Synonymous SNV V2686V 0 0 0 0 0 0 0 0 0 0 0 0 11.41 336976 chr4 2939801 2939801 C T rs565345274 NOP14-AS1 0 0 0 0 0 0 0 0 0 0 0 0 3.836 336977 chr4 41640949 41640949 A G rs763924639 LIMCH1 Synonymous SNV R158R 0 0 0 0 0 0 0 0 0 0 0 0 9.462 336978 chr4 55127413 55127413 C T rs35805947 PDGFRA Synonymous SNV S67S 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 8.808 336979 chr4 68812202 68812202 C G rs147036994 TMPRSS11A Synonymous SNV V33V 0 0 0 0 0 0 0 0 0 0 0 0 3.406 336980 chr4 71570990 71570990 - GCAGCG rs746940696 RUFY3 G117_K118insSG 0 0 0 0 0 0 0 0 0 0 0 0 336981 chr4 71628337 71628337 C G RUFY3 Nonsynonymous SNV L94V 0 0 0 0 0 0 0 0 0 0 0 0 25.4 336982 chr4 90857588 90857588 G A rs41279303 MMRN1 Synonymous SNV S919S 0 0 0 0 0 0 0 0 0 0 0 0 8.362 336983 chr5 140530877 140530877 A T rs147390258 PCDHB6 Nonsynonymous SNV M347L 0 0 0 0 0 0 0 0 0 0 0 0 0.001 336984 chr5 140799835 140799835 T C rs375162019 PCDHGB7 Synonymous SNV L803L 0 0 0 0 0 0 0 0 0 0 0 0 5.382 336985 chr5 145464109 145464109 C T rs767465564 PLAC8L1 Synonymous SNV A140A 0 0 0 0 0 0 0 0 0 0 0 0 20.3 336986 chr5 150036065 150036065 C T rs935555249 SYNPO Nonsynonymous SNV P710S 0 0 0 0 0 0 0 0 0 0 0 0 8.763 336987 chr5 158134582 158134582 A G EBF1 Nonsynonymous SNV S544P 0 0 0 0 0 0 0 0 0 0 0 0 21.7 336988 chr5 176477835 176477835 C G rs199731522 ZNF346 Nonsynonymous SNV Q103E 0 0 0 0 0 0 0 0 0 0 0 0 10.48 336989 chr5 176733550 176733550 G C PRELID1 Nonsynonymous SNV Q202H 0 0 0 0 0 0 0 0 0 0 0 0 18.28 336990 chr5 50129827 50129827 A G rs200578964 PARP8 Synonymous SNV G732G 0 0 0 0 0 0 0 0 0 0 0 0 10.21 336991 chr5 64925908 64925908 A G rs144449876 SHLD3 Nonsynonymous SNV Y165C 0 0 0 0 0 0 0 0 0 0 0 0 14.61 336992 chr5 65458367 65458367 T C SREK1 Synonymous SNV S234S 0 0 0 0 0 0 0 0 0 0 0 0 5.508 336993 chr5 886724 886724 C T rs74984870 BRD9 Synonymous SNV P219P 0 0 0 0 0 0 0 0 0 0 0 0 Benign 9.853 336994 chr5 891839 891839 C G rs199607133 BRD9 Nonsynonymous SNV R10T 0 0 0 0 0 0 0 0 0 0 0 0 24 336995 chr5 93076292 93076294 GAG - rs537386489 POU5F2 L326del 0 0 0 0 0 0 0 0 0 0 0 0 336996 chr6 10557247 10557247 C T rs756141442 GCNT2 Synonymous SNV T197T 0 0 0 0 0 0 0 0 0 0 0 0 20.3 336997 chr6 110714074 110714074 G A rs764208226 DDO Synonymous SNV G197G 0 0 0 0 0 0 0 0 0 0 0 0 2.86 336998 chr6 119669908 119669908 C G MAN1A1 Nonsynonymous SNV G108A 0 0 0 0 0 0 0 0 0 0 0 0 7.411 336999 chr6 121600391 121600391 C A rs202238791 TBC1D32 Nonsynonymous SNV A537S 0 0 0 0 0 0 0 0 0 0 0 0 14.97 337000 chr6 126080434 126080434 C T HEY2 Nonsynonymous SNV A167V 0 0 0 0 0 0 0 0 0 0 0 0 18.05 337001 chr6 129777558 129777558 G A rs398123382 LAMA2 Synonymous SNV S2262S 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.416 337002 chr6 170627481 170627481 G A rs146980569 FAM120B Nonsynonymous SNV A347T 0 0 0 0 0 0 0 0 0 0 0 0 7.346 337003 chr6 17541277 17541277 A G rs143224323 CAP2 Synonymous SNV Q188Q 0 0 0 0 0 0 0 0 0 0 0 0 0.72 337004 chr6 26158679 26158679 G A rs748913759 H2BC5 Synonymous SNV E94E 0 0 0 0 0 0 0 0 0 0 0 0 12.02 337005 chr6 2833931 2833931 T C rs771290459 SERPINB1 Nonsynonymous SNV N351D 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337006 chr6 35473911 35473911 C T rs779445674 TULP1 Nonsynonymous SNV E237K 0 0 0 0 0 0 0 0 0 0 0 0 26.1 337007 chr6 39281948 39281948 T C KCNK17 Nonsynonymous SNV D50G 0 0 0 0 0 0 0 0 0 0 0 0 9.586 337008 chr7 100681591 100681591 C T MUC17 Synonymous SNV T2298T 0 0 0 0 0 0 0 0 0 0 0 0 9.552 337009 chr7 107671345 107671345 A G rs143043073 LAMB4 Nonsynonymous SNV L1633P 0 0 0 0 0 0 0 0 0 0 0 0 2.497 337010 chr7 149491919 149491919 C T rs371631615 SSPO 0 0 0 0 0 0 0 0 0 0 0 0 4.577 337011 chr7 31815326 31815326 C T rs74905175 PDE1C Nonsynonymous SNV G638S 0 0 0 0 0 0 0 0 0 0 0 0 19.82 337012 chr7 3861080 3861081 AG - SDK1 0 0 0 0 0 0 0 0 0 0 0 0 337013 chr7 48314667 48314667 A G rs774540432 ABCA13 Nonsynonymous SNV I1802V 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337014 chr7 5521511 5521511 G A rs190326632 FBXL18 Synonymous SNV H584H 0 0 0 0 0 0 0 0 0 0 0 0 10.91 337015 chr7 6694134 6694134 T G ZNF316 Synonymous SNV G969G 0 0 0 0 0 0 0 0 0 0 0 0 12.22 337016 chr7 88966230 88966230 C A rs771373207 ZNF804B Nonsynonymous SNV P1312T 0 0 0 0 0 0 0 0 0 0 0 0 26.5 337017 chr7 98519495 98519495 C T rs782231932 TRRAP Synonymous SNV Y914Y 0 0 0 0 0 0 0 0 0 0 0 0 13.07 337018 chr8 134237800 134237800 G A rs202087900 CCN4 Nonsynonymous SNV D173N 0 0 0 0 0 0 0 0 0 0 0 0 13.89 337019 chr8 139151282 139151282 C T FAM135B Nonsynonymous SNV R1283K 0 0 0 0 0 0 0 0 0 0 0 0 27.1 337020 chr8 145748273 145748273 C T LRRC24 Synonymous SNV P376P 0 0 0 0 0 0 0 0 0 0 0 0 10.78 337021 chr8 24358310 24358310 C T rs148598391 ADAM7 Synonymous SNV T670T 0 0 0 0 0 0 0 0 0 0 0 0 5.825 337022 chr8 41794904 41794904 C T rs377028242 KAT6A Synonymous SNV E1074E 0 0 0 0 0 0 0 0 0 0 0 0 13.64 337023 chr8 6590095 6590095 A G AGPAT5 Nonsynonymous SNV Y140C 0 0 0 0 0 0 0 0 0 0 0 0 29.3 337024 chr8 94935298 94935298 C T rs761133347 PDP1 Synonymous SNV V337V 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 8.1 337025 chr8 95844276 95844276 C T rs140588875 INTS8 Synonymous SNV N209N 0 0 0 0 0 0 0 0 0 0 0 0 12.48 337026 chr8 98973727 98973727 C T rs372237220 MATN2 Synonymous SNV Y309Y 0 0 0 0 0 0 0 0 0 0 0 0 15.17 337027 chr9 100672893 100672893 C G TRMO Nonsynonymous SNV A139P 0 0 0 0 0 0 0 0 0 0 0 0 27.7 337028 chr9 100888914 100888916 CTG - CORO2A A454del 0 0 0 0 0 0 0 0 0 0 0 0 337029 chr9 100995771 100995771 T C rs766626031 TBC1D2 Synonymous SNV P236P 0 0 0 0 0 0 0 0 0 0 0 0 5.828 337030 chr9 117099427 117099427 G A rs145544680 AKNA Synonymous SNV A1290A 0 0 0 0 0 0 0 0 0 0 0 0 8.033 337031 chr9 123903657 123903657 A G rs141042809 CNTRL 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337032 chr9 133511486 133511486 G A rs191378271 FUBP3 Synonymous SNV T561T 0 0 0 0 0 0 0 0 0 0 0 0 10.96 337033 chr9 138557114 138557114 G A rs148957462 LCN9 Nonsynonymous SNV V111I 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337034 chr9 140128935 140128935 C T rs769447120 SLC34A3 Synonymous SNV F387F 0 0 0 0 0 0 0 0 0 0 0 0 14.1 337035 chr9 34088418 34088418 G A rs750395514 DCAF12 Nonsynonymous SNV T431M 0 0 0 0 0 0 0 0 0 0 0 0 23.7 337036 chr9 72006603 72006603 C T rs36097736 FAM189A2 Synonymous SNV C412C 0 0 0 0 0 0 0 0 0 0 0 0 Benign 14.35 337037 chr9 79321911 79321911 T C rs762647804 PRUNE2 Nonsynonymous SNV Q1760R 0 0 0 0 0 0 0 0 0 0 0 0 11.23 337038 chr9 80851475 80851475 T A CEP78 Stop gain L70X 0 0 0 0 0 0 0 0 0 0 0 0 34 337039 chr9 93640027 93640027 A G rs199712945 SYK Synonymous SNV E429E 0 0 0 0 0 0 0 0 0 0 0 0 4.721 337040 chrX 107421943 107421943 G C rs750171742 COL4A6 Nonsynonymous SNV P829R 0 0 0 0 0 0 0 0 0 0 0 0 7.301 337041 chrX 148579830 148579830 T C rs782751345 IDS Synonymous SNV R172R 0 0 0 0 0 0 0 0 0 0 0 0 0.047 337042 chrX 154290190 154290190 T G rs141202625 CMC4 Synonymous SNV G45G 0 0 0 0 0 0 0 0 0 0 0 0 8.846 337043 chrX 16188843 16188843 C T rs1046473162 MAGEB17 Nonsynonymous SNV T113M 0 0 0 0 0 0 0 0 0 0 0 0 12.84 337044 chrX 31792222 31792222 A G rs764330616 DMD Nonsynonymous SNV M6T 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 9.89 337045 chrX 49021271 49021271 C T rs183167298 MAGIX Nonsynonymous SNV P117L 0 0 0 0 0 0 0 0 0 0 0 0 0.675 337046 chr10 101716097 101716097 C T DNMBP Synonymous SNV E378E 0 0 0 0 0 0 0 0 0 0 0 0 6.268 337047 chr10 103920824 103920824 A G rs756458873 NOLC1 Nonsynonymous SNV K582R 0 0 0 0 0 0 0 0 0 0 0 0 14.26 337048 chr10 104414997 104414997 T C TRIM8 Nonsynonymous SNV M244T 0 0 0 0 0 0 0 0 0 0 0 0 15.48 337049 chr10 104592431 104592431 T C CYP17A1 Nonsynonymous SNV K326E 0 0 0 0 0 0 0 0 0 0 0 0 10.32 337050 chr10 106075587 106075587 C T ITPRIP Nonsynonymous SNV E75K 0 0 0 0 0 0 0 0 0 0 0 0 10.32 337051 chr10 11797608 11797608 G A rs200347426 ECHDC3 0 0 0 0 0 0 0 0 0 0 0 0 23.7 337052 chr10 52005133 52005133 G C ASAH2 Nonsynonymous SNV T70S 0 0 0 0 0 0 0 0 0 0 0 0 0.047 337053 chr10 73574898 73574898 C T rs200124827 CDH23 Nonsynonymous SNV R172C 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 28.8 337054 chr10 89621762 89621762 G C KLLN Synonymous SNV V161V 0 0 0 0 0 0 0 0 0 0 0 0 0.231 337055 chr11 108143481 108143481 T C ATM Synonymous SNV N1062N 0 0 0 0 0 0 0 0 0 0 0 0 0.015 337056 chr11 130343306 130343306 C T rs147148311 ADAMTS15 Nonsynonymous SNV P815S 0 0 0 0 0 0 0 0 0 0 0 0 11.6 337057 chr11 34192516 34192516 C T rs749917908 ABTB2 Synonymous SNV T500T 0 0 0 0 0 0 0 0 0 0 0 0 9.643 337058 chr11 58190218 58190218 G T OR5B2 Nonsynonymous SNV H173N 0 0 0 0 0 0 0 0 0 0 0 0 0.225 337059 chr11 76804848 76804848 C G rs189562132 CAPN5 Nonsynonymous SNV L96V 0 0 0 0 0 0 0 0 0 0 0 0 24.1 337060 chr11 76913409 76913409 C T rs199561332 MYO7A Nonsynonymous SNV A1703V 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.35 337061 chr11 77386155 77386155 C T rs145881006 RSF1 Nonsynonymous SNV R1163Q 0 0 0 0 0 0 0 0 0 0 0 0 29.1 337062 chr11 78567026 78567026 G A rs191549326 TENM4 Nonsynonymous SNV P485S 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 23.9 337063 chr11 8959546 8959546 G A rs191792614 ASCL3 Nonsynonymous SNV R55W 0 0 0 0 0 0 0 0 0 0 0 0 16.69 337064 chr12 100491155 100491155 T A rs145197562 UHRF1BP1L Synonymous SNV T219T 0 0 0 0 0 0 0 0 0 0 0 0 13.28 337065 chr12 108912433 108912433 T C FICD Synonymous SNV L186L 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337066 chr13 109792844 109792844 C G MYO16 Nonsynonymous SNV D1428E 0 0 0 0 0 0 0 0 0 0 0 0 3.256 337067 chr13 111156218 111156218 C T rs371751894 COL4A2 Nonsynonymous SNV P1388L 0 0 0 0 0 0 0 0 0 0 0 0 26.9 337068 chr13 113909087 113909087 G A CUL4A Synonymous SNV E611E 0 0 0 0 0 0 0 0 0 0 0 0 5.866 337069 chr14 21883974 21883974 A G rs755210469 CHD8 Synonymous SNV D603D 0 0 0 0 0 0 0 0 0 0 0 0 7.071 337070 chr14 31349830 31349830 C T rs771252412 COCH Synonymous SNV S173S 0 0 0 0 0 0 0 0 0 0 0 0 12.73 337071 chr14 35483039 35483039 A G rs746403621 SRP54 Nonsynonymous SNV I224V 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337072 chr14 39649762 39649762 T C rs148479113 PNN Synonymous SNV A283A 0 0 0 0 0 0 0 0 0 0 0 0 0.223 337073 chr14 52186812 52186812 T C rs202176029 FRMD6 Nonsynonymous SNV L355P 0 0 0 0 0 0 0 0 0 0 0 0 27 337074 chr14 57948352 57948352 A C rs764386610 CCDC198 Synonymous SNV T139T 0 0 0 0 0 0 0 0 0 0 0 0 0.003 337075 chr14 70245068 70245068 T C rs200070799 SLC10A1 Nonsynonymous SNV K309E 0 0 0 0 0 0 0 0 0 0 0 0 23.2 337076 chr14 92537354 92537354 - TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 Frameshift insertion G23Afs*77 0 0 0 0 0 0 0 0 0 0 0 0 337077 chr15 101113957 101113957 A G rs776962968 LINS1 Nonsynonymous SNV I374T 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 0.002 337078 chr15 68497633 68497633 G A rs3803381 CALML4 Nonsynonymous SNV R28C 0 0 0 0 0 0 0 0 0 0 0 0 18.11 337079 chr15 86823011 86823011 C T rs188499359 AGBL1 Synonymous SNV L739L 0 0 0 0 0 0 0 0 0 0 0 0 12.31 337080 chr15 91083293 91083293 A G rs766335111 CRTC3 Nonsynonymous SNV Q52R 0 0 0 0 0 0 0 0 0 0 0 0 12.73 337081 chr15 91290633 91290633 T C rs144706057 BLM Nonsynonymous SNV V4A 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 337082 chr16 26147209 26147209 G A rs540523376 HS3ST4 Synonymous SNV A337A 0 0 0 0 0 0 0 0 0 0 0 0 10.85 337083 chr16 26147485 26147485 G A HS3ST4 Synonymous SNV R429R 0 0 0 0 0 0 0 0 0 0 0 0 8.724 337084 chr16 27751744 27751744 G A rs773769408 KIAA0556 Nonsynonymous SNV G709D 0 0 0 0 0 0 0 0 0 0 0 0 0.085 337085 chr16 2815756 2815756 C T rs556006940 SRRM2 Nonsynonymous SNV R1743C 0 0 0 0 0 0 0 0 0 0 0 0 23.2 337086 chr16 4432882 4432882 C T rs577139431 VASN Synonymous SNV H668H 0 0 0 0 0 0 0 0 0 0 0 0 0.624 337087 chr16 602306 602306 C T rs200514593 CAPN15 Nonsynonymous SNV S838L 0 0 0 0 0 0 0 0 0 0 0 0 22.5 337088 chr16 68014072 68014072 G A rs752641508 DPEP3 Nonsynonymous SNV T71M 0 0 0 0 0 0 0 0 0 0 0 0 23 337089 chr17 1686386 1686386 G A rs201073453 SMYD4 Nonsynonymous SNV P735L 0 0 0 0 0 0 0 0 0 0 0 0 30 337090 chr17 21101727 21101727 G A rs150424039 TMEM11 Synonymous SNV D163D 0 0 0 0 0 0 0 0 0 0 0 0 8.987 337091 chr17 2595180 2595180 C G rs201361018 CLUH Nonsynonymous SNV D1222H 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 21.7 337092 chr17 46022978 46022978 G T rs752280058 PNPO Nonsynonymous SNV Q139H 0 0 0 0 0 0 0 0 0 0 0 0 28.6 337093 chr17 4849973 4849973 C T PFN1 Nonsynonymous SNV S92N 0 0 0 0 0 0 0 0 0 0 0 0 19.35 337094 chr18 24128325 24128327 TCC - rs755283423 KCTD1 E63del 0 0 0 0 0 0 0 0 0 0 0 0 337095 chr18 43224125 43224125 G A rs61738671 SLC14A2 Nonsynonymous SNV G451R 0 0 0 0 0 0 0 0 0 0 0 0 Benign 25.7 337096 chr19 11537026 11537026 T C rs750661034 CCDC151 Nonsynonymous SNV I241V 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 0.002 337097 chr19 14047234 14047234 G A rs201309462 PODNL1 Nonsynonymous SNV R94C 0 0 0 0 0 0 0 0 0 0 0 0 25.7 337098 chr19 14274119 14274119 G A rs752709489 ADGRL1 Nonsynonymous SNV A165V 0 0 0 0 0 0 0 0 0 0 0 0 29.2 337099 chr19 15230261 15230261 G A rs376376138 ILVBL Synonymous SNV A294A 0 0 0 0 0 0 0 0 0 0 0 0 9.821 337100 chr19 15514316 15514316 T C rs368953913 AKAP8L Nonsynonymous SNV Q111R 0 0 0 0 0 0 0 0 0 0 0 0 10.9 337101 chr19 17941341 17941341 A G rs145260622 JAK3 Nonsynonymous SNV Y1023H 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 24.1 337102 chr19 18256012 18256012 C T rs199613404 MAST3 Synonymous SNV D975D 0 0 0 0 0 0 0 0 0 0 0 0 12.07 337103 chr19 23328353 23328353 G A rs768553282 ZNF730 Synonymous SNV S169S 0 0 0 0 0 0 0 0 0 0 0 0 6.353 337104 chr19 36246432 36246432 T C rs1040512313 HSPB6 Synonymous SNV A158A 0 0 0 0 0 0 0 0 0 0 0 0 0.751 337105 chr19 38377384 38377386 CTT - rs139099315 WDR87 K2309del 0 0 0 0 0 0 0 0 0 0 0 0 337106 chr19 42776509 42776509 A G CIC Nonsynonymous SNV S192G 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337107 chr19 45911899 45911899 G A rs113047593 CD3EAP Nonsynonymous SNV E227K 0 0 0 0 0 0 0 0 0 0 0 0 22.7 337108 chr19 49002619 49002619 G A rs768791679 LMTK3 Synonymous SNV A598A 0 0 0 0 0 0 0 0 0 0 0 0 3.46 337109 chr19 52888046 52888046 G A rs578235914 ZNF880 Nonsynonymous SNV E405K 0 0 0 0 0 0 0 0 0 0 0 0 25.3 337110 chr19 56934786 56934786 A C ZNF583 Synonymous SNV A253A 0 0 0 0 0 0 0 0 0 0 0 0 4.254 337111 chr19 56934832 56934832 G C ZNF583 Nonsynonymous SNV E269Q 0 0 0 0 0 0 0 0 0 0 0 0 19.15 337112 chr19 7623766 7623766 C T rs142294971 PNPLA6 Nonsynonymous SNV T1143M 0 0 0 0 0 0 0 0 0 0 0 0 23.1 337113 chr19 7977267 7977267 C T rs202245509 MAP2K7 Nonsynonymous SNV P411L 0 0 0 0 0 0 0 0 0 0 0 0 23.7 337114 chr1 112298837 112298837 C T rs991296895 DDX20 Synonymous SNV R97R 0 0 0 0 0 0 0 0 0 0 0 0 15.53 337115 chr1 1178008 1178008 C - rs774124273 C1QTNF12 V277Cfs*46 0 0 0 0 0 0 0 0 0 0 0 0 337116 chr1 1564576 1564576 C T rs968117273 MIB2 Synonymous SNV L806L 0 0 0 0 0 0 0 0 0 0 0 0 16.17 337117 chr1 17359572 17359572 C T rs570278423 SDHB Nonsynonymous SNV R90Q 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 35 337118 chr1 175096126 175096126 G A rs368231525 TNN Nonsynonymous SNV V984I 0 0 0 0 0 0 0 0 0 0 0 0 11.82 337119 chr1 19401371 19401371 G A rs373433980 UBR4 Synonymous SNV T5169T 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 15.03 337120 chr1 200523667 200523667 C T rs567743363 KIF14 Nonsynonymous SNV R1008H 0 0 0 0 0 0 0 0 0 0 0 0 6.362 337121 chr1 201193849 201193849 C T rs151317984 IGFN1 Nonsynonymous SNV P3445S 0 0 0 0 0 0 0 0 0 0 0 0 27 337122 chr1 201196198 201196198 G A rs139902323 IGFN1 Nonsynonymous SNV A3659T 0 0 0 0 0 0 0 0 0 0 0 0 8.181 337123 chr1 201926448 201926448 G A rs146780639 TIMM17A Synonymous SNV T22T 0 0 0 0 0 0 0 0 0 0 0 0 15.41 337124 chr1 205538402 205538402 G A rs765551702 MFSD4A Nonsynonymous SNV A69T 0 0 0 0 0 0 0 0 0 0 0 0 15.39 337125 chr1 231175728 231175744 GCCGCCCGGGCCCCGCC - rs756660826 FAM89A G72Sfs*67 0 0 0 0 0 0 0 0 0 0 0 0 337126 chr1 233463810 233463810 C G rs199635611 MAP3K21 Synonymous SNV T12T 0 0 0 0 0 0 0 0 0 0 0 0 9.772 337127 chr1 233463936 233463936 G C rs189326455 MAP3K21 Nonsynonymous SNV E54D 0 0 0 0 0 0 0 0 0 0 0 0 17.64 337128 chr1 236708063 236708063 C G LGALS8 Nonsynonymous SNV L218V 0 0 0 0 0 0 0 0 0 0 0 0 26.7 337129 chr1 241798076 241798076 - A CHML Frameshift insertion T332Nfs*27 0 0 0 0 0 0 0 0 0 0 0 0 337130 chr1 245851688 245851688 G A KIF26B Synonymous SNV L1801L 0 0 0 0 0 0 0 0 0 0 0 0 0.011 337131 chr1 248569903 248569903 C G rs151338317 OR2T1 Nonsynonymous SNV S203C 0 0 0 0 0 0 0 0 0 0 0 0 23.8 337132 chr1 26688381 26688381 G A rs147323022 ZNF683 Nonsynonymous SNV R426W 0 0 0 0 0 0 0 0 0 0 0 0 27.4 337133 chr1 34666590 34666590 G T C1orf94 Synonymous SNV P409P 0 0 0 0 0 0 0 0 0 0 0 0 6.646 337134 chr1 6636560 6636560 A G TAS1R1 Nonsynonymous SNV Y195C 0 0 0 0 0 0 0 0 0 0 0 0 26.1 337135 chr1 78191336 78191336 C A USP33 Nonsynonymous SNV W416L 0 0 0 0 0 0 0 0 0 0 0 0 25.8 337136 chr1 85733527 85733527 G A rs200837308 BCL10 Nonsynonymous SNV T151M 0 0 0 0 0 0 0 0 0 0 0 0 26.1 337137 chr1 92546144 92546144 G A rs150446692 BTBD8 Nonsynonymous SNV E6K 0 0 0 0 0 0 0 0 0 0 0 0 19.73 337138 chr1 92546145 92546145 A G rs776230080 BTBD8 Nonsynonymous SNV E6G 0 0 0 0 0 0 0 0 0 0 0 0 9.544 337139 chr1 977367 977367 C T rs368625531 AGRN Synonymous SNV A403A 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 10.36 337140 chr20 1161728 1161728 C T rs191499293 TMEM74B Nonsynonymous SNV A155T 0 0 0 0 0 0 0 0 0 0 0 0 33 337141 chr20 259888 259888 G A rs370729462 C20orf96 Synonymous SNV I129I 0 0 0 0 0 0 0 0 0 0 0 0 10.72 337142 chr20 334223 334223 G A rs372152096 NRSN2 Nonsynonymous SNV A187T 0 0 0 0 0 0 0 0 0 0 0 0 2.635 337143 chr20 5294641 5294641 G A rs148596437 PROKR2 Synonymous SNV H125H 0 0 0 0 0 0 0 0 0 0 0 0 Benign 8.709 337144 chr21 43319425 43319425 G A rs142724154 C2CD2 Nonsynonymous SNV T381M 0 0 0 0 0 0 0 0 0 0 0 0 11.76 337145 chr21 43412291 43412291 C T ZBTB21 Synonymous SNV K638K 0 0 0 0 0 0 0 0 0 0 0 0 11.84 337146 chr21 46066682 46066682 G A rs200166608 KRTAP10-11 Nonsynonymous SNV V103I 0 0 0 0 0 0 0 0 0 0 0 0 0.166 337147 chr22 20100466 20100466 G A rs149511907 TRMT2A Synonymous SNV C538C 0 0 0 0 0 0 0 0 0 0 0 0 9.716 337148 chr22 20781767 20781767 G C SCARF2 Synonymous SNV P542P 0 0 0 0 0 0 0 0 0 0 0 0 6.798 337149 chr22 26317298 26317298 C T rs556532564 MYO18B Synonymous SNV D1814D 0 0 0 0 0 0 0 0 0 0 0 0 9.882 337150 chr22 29877061 29877061 G C rs201868609 NEFH Synonymous SNV A270A 0 0 0 0 0 0 0 0 0 0 0 0 8.296 337151 chr22 42322277 42322277 C T TNFRSF13C Synonymous SNV A65A 0 0 0 0 0 0 0 0 0 0 0 0 17.96 337152 chr2 169870836 169870836 C T rs183406496 ABCB11 Nonsynonymous SNV V43I 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 0.082 337153 chr2 176945272 176945272 G A rs746551317 EVX2 Nonsynonymous SNV P332S 0 0 0 0 0 0 0 0 0 0 0 0 23.8 337154 chr2 179296970 179296970 C T rs148050153 PRKRA Nonsynonymous SNV A255T 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 23.7 337155 chr2 203061719 203061719 G A KIAA2012 Synonymous SNV T1128T 0 0 0 0 0 0 0 0 0 0 0 0 6.105 337156 chr2 219525827 219525827 C A BCS1L Synonymous SNV G39G 0 0 0 0 0 0 0 0 0 0 0 0 12.23 337157 chr2 228124527 228124527 T C COL4A3 Nonsynonymous SNV Y350H 0 0 0 0 0 0 0 0 0 0 0 0 5.709 337158 chr2 26418053 26418053 C G rs137852769 HADHA Nonsynonymous SNV E510Q 0 0 0 0 0 0 0 0 0 0 0 0 Pathogenic 32 337159 chr2 85783341 85783341 G A rs76767923 GGCX Synonymous SNV H137H 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 11.92 337160 chr2 86255781 86255781 C T rs763548965 POLR1A Synonymous SNV T1611T 0 0 0 0 0 0 0 0 0 0 0 0 13.79 337161 chr3 108672498 108672498 G A GUCA1C Nonsynonymous SNV H38Y 0 0 0 0 0 0 0 0 0 0 0 0 22.7 337162 chr3 133476718 133476718 C T TF Nonsynonymous SNV P199S 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337163 chr3 184280054 184280054 T C rs760420980 EPHB3 Nonsynonymous SNV S11P 0 0 0 0 0 0 0 0 0 0 0 0 8.788 337164 chr4 144620440 144620440 A C FREM3 Nonsynonymous SNV D463E 0 0 0 0 0 0 0 0 0 0 0 0 7.834 337165 chr4 159790378 159790378 C T rs762848281 FNIP2 Nonsynonymous SNV L510F 0 0 0 0 0 0 0 0 0 0 0 0 0.133 337166 chr4 66217132 66217132 T A rs374985302 EPHA5 Nonsynonymous SNV D807V 0 0 0 0 0 0 0 0 0 0 0 0 31 337167 chr4 663878 663878 A G rs137864502 PDE6B Nonsynonymous SNV N443D 0 0 0 0 0 0 0 0 0 0 0 0 8.994 337168 chr4 8229353 8229353 G T rs931893287 SH3TC1 Nonsynonymous SNV E568D 0 0 0 0 0 0 0 0 0 0 0 0 0.012 337169 chr4 860839 860839 G A rs745833929 GAK Nonsynonymous SNV P847L 0 0 0 0 0 0 0 0 0 0 0 0 12.22 337170 chr5 102444373 102444373 T C GIN1 Synonymous SNV K13K 0 0 0 0 0 0 0 0 0 0 0 0 0.599 337171 chr5 140256300 140256300 C G rs570565884 PCDHA12 Nonsynonymous SNV R415G 0 0 0 0 0 0 0 0 0 0 0 0 26.3 337172 chr5 142780276 142780276 C A NR3C1 Synonymous SNV A43A 0 0 0 0 0 0 0 0 0 0 0 0 12.71 337173 chr5 148686979 148686979 G A rs781501981 AFAP1L1 Nonsynonymous SNV A151T 0 0 0 0 0 0 0 0 0 0 0 0 25.5 337174 chr5 35771773 35771773 C T rs200436477 SPEF2 Synonymous SNV P1288P 0 0 0 0 0 0 0 0 0 0 0 0 11.48 337175 chr5 36679914 36679914 T C rs760669339 SLC1A3 Nonsynonymous SNV I237T 0 0 0 0 0 0 0 0 0 0 0 0 24.6 337176 chr5 38352315 38352315 G C rs377637249 EGFLAM Nonsynonymous SNV A143P 0 0 0 0 0 0 0 0 0 0 0 0 21 337177 chr5 79616411 79616411 A T rs374941383 SPZ1 Nonsynonymous SNV N126I 0 0 0 0 0 0 0 0 0 0 0 0 22.6 337178 chr5 79950642 79950642 A C rs145429648 MSH3 Synonymous SNV G32G 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 3.178 337179 chr6 152466665 152466665 C T SYNE1 Synonymous SNV E489E 0 0 0 0 0 0 0 0 0 0 0 0 18.97 337180 chr6 42893133 42893133 C T rs187988655 PTCRA Nonsynonymous SNV R80C 0 0 0 0 0 0 0 0 0 0 0 0 25.2 337181 chr6 44122467 44122467 C T rs201256940 TMEM63B Synonymous SNV D782D 0 0 0 0 0 0 0 0 0 0 0 0 17.54 337182 chr7 100201696 100201696 C A rs143607884 PCOLCE Synonymous SNV R107R 0 0 0 0 0 0 0 0 0 0 0 0 22.1 337183 chr7 100285138 100285138 C T rs78361039 GIGYF1 Synonymous SNV T121T 0 0 0 0 0 0 0 0 0 0 0 0 9.76 337184 chr7 100679947 100679947 A G rs4992075 MUC17 Synonymous SNV P1750P 0 0 0 0 0 0 0 0 0 0 0 0 1.153 337185 chr7 106888918 106888918 A G rs142970891 COG5 Synonymous SNV A602A 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 5.727 337186 chr7 1484905 1484905 G A rs748280308 MICALL2 Synonymous SNV S267S 0 0 0 0 0 0 0 0 0 0 0 0 0.954 337187 chr7 22768314 22768314 A G rs145242107 IL6 Synonymous SNV T71T 0 0 0 0 0 0 0 0 0 0 0 0 0.135 337188 chr7 36194707 36194707 G T rs749365066 EEPD1 Nonsynonymous SNV R258S 0 0 0 0 0 0 0 0 0 0 0 0 22.3 337189 chr7 36396756 36396756 A G rs374467682 KIAA0895 Nonsynonymous SNV W157R 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337190 chr7 98608767 98608767 G T rs201212456 TRRAP Synonymous SNV T3634T 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 11.6 337191 chr7 99097558 99097558 A G rs148702080 ZNF394 Synonymous SNV Y53Y 0 0 0 0 0 0 0 0 0 0 0 0 0.005 337192 chr7 99145268 99145268 G T rs181756549 FAM200A Nonsynonymous SNV P255T 0 0 0 0 0 0 0 0 0 0 0 0 14.45 337193 chr8 143623934 143623934 G A rs764226240 ADGRB1 Nonsynonymous SNV A1447T 0 0 0 0 0 0 0 0 0 0 0 0 12.28 337194 chr8 144776650 144776650 C T rs375504308 ZNF707 Synonymous SNV L320L 0 0 0 0 0 0 0 0 0 0 0 0 9.324 337195 chr9 125746836 125746836 G A rs779816008 RABGAP1 Nonsynonymous SNV D75N 0 0 0 0 0 0 0 0 0 0 0 0 20.8 337196 chr9 127262779 127262779 C T rs761496130 NR5A1 Nonsynonymous SNV A154T 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 0.055 337197 chr9 21968732 21968732 G A rs181044510 CDKN2A Nonsynonymous SNV H166Y 0 0 0 0 0 0 0 0 0 0 0 0 Benign 0.574 337198 chr9 4622455 4622455 G C rs754476671 SPATA6L Nonsynonymous SNV S151C 0 0 0 0 0 0 0 0 0 0 0 0 19.72 337199 chr10 100177372 100177372 G A rs576260502 HPS1 Synonymous SNV A564A 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 15.47 337200 chr10 112557267 112557267 T C rs372567331 RBM20 Nonsynonymous SNV F510S 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.5 337201 chr10 120883035 120883035 C G DENND10 Stop gain Y65X 0 0 0 0 0 0 0 0 0 0 0 0 25.8 337202 chr10 13375840 13375840 G A rs779254732 SEPHS1 Synonymous SNV V112V 0 0 0 0 0 0 0 0 0 0 0 0 8.964 337203 chr10 134942650 134942650 A T rs772798280 ADGRA1 Nonsynonymous SNV I343F 0 0 0 0 0 0 0 0 0 0 0 0 19.67 337204 chr10 29815906 29815906 C T rs371267499 SVIL Nonsynonymous SNV A382T 0 0 0 0 0 0 0 0 0 0 0 0 6.698 337205 chr10 29839710 29839710 G A rs74132329 SVIL Nonsynonymous SNV R215W 0 0 0 0 0 0 0 0 0 0 0 0 Benign 26.2 337206 chr10 7822044 7822044 A G rs61750338 KIN Synonymous SNV D117D 0 0 0 0 0 0 0 0 0 0 0 0 0.016 337207 chr10 89623714 89623714 G C rs546504608 PTEN Nonsynonymous SNV R3P 0 0 0 0 0 0 0 0 0 0 0 0 13.01 337208 chr10 99677327 99677327 G A rs141281042 CRTAC1 Synonymous SNV A215A 0 0 0 0 0 0 0 0 0 0 0 0 10.04 337209 chr11 106810691 106810691 G A rs768398118 GUCY1A2 Nonsynonymous SNV T234I 0 0 0 0 0 0 0 0 0 0 0 0 0.847 337210 chr11 117982541 117982541 G A rs1019932481 TMPRSS4 Synonymous SNV Q183Q 0 0 0 0 0 0 0 0 0 0 0 0 1.801 337211 chr11 124500641 124500641 G C rs142077518 TBRG1 Nonsynonymous SNV M279I 0 0 0 0 0 0 0 0 0 0 0 0 15.42 337212 chr11 130289131 130289131 G C rs375747696 ADAMTS8 Nonsynonymous SNV I259M 0 0 0 0 0 0 0 0 0 0 0 0 23.3 337213 chr11 428144 428144 T C rs754842224 ANO9 Synonymous SNV T282T 0 0 0 0 0 0 0 0 0 0 0 0 0.011 337214 chr11 47804634 47804634 G T NUP160 Nonsynonymous SNV F1369L 0 0 0 0 0 0 0 0 0 0 0 0 23.9 337215 chr11 6007906 6007906 A T rs1049292827 OR52L1 Synonymous SNV A85A 0 0 0 0 0 0 0 0 0 0 0 0 0.639 337216 chr11 608960 608960 G A rs766250312 PHRF1 Synonymous SNV S1168S 0 0 0 0 0 0 0 0 0 0 0 0 3.618 337217 chr11 640059 640072 CCGGGGTCCCTGCG - DRD4 R271Pfs*174 0 0 0 0 0 0 0 0 0 0 0 0 337218 chr11 640073 640073 G A DRD4 Nonsynonymous SNV G275D 0 0 0 0 0 0 0 0 0 0 0 0 0.105 337219 chr11 65629516 65629516 G A rs201732178 MUS81 Synonymous SNV L150L 0 0 0 0 0 0 0 0 0 0 0 0 10.21 337220 chr11 6589746 6589746 G A DNHD1 Nonsynonymous SNV V4201I 0 0 0 0 0 0 0 0 0 0 0 0 23.3 337221 chr11 68343475 68343475 C A rs200494467 PPP6R3 Synonymous SNV S341S 0 0 0 0 0 0 0 0 0 0 0 0 20.2 337222 chr11 71951106 71951106 G A PHOX2A Nonsynonymous SNV T181M 0 0 0 0 0 0 0 0 0 0 0 0 23.4 337223 chr11 7334650 7334650 C G rs762941038 SYT9 Synonymous SNV L174L 0 0 0 0 0 0 0 0 0 0 0 0 4.758 337224 chr11 8118874 8118874 A G rs143280502 TUB Nonsynonymous SNV I263V 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 11.79 337225 chr11 92895953 92895953 A T rs773175556 SLC36A4 Nonsynonymous SNV V184E 0 0 0 0 0 0 0 0 0 0 0 0 28.7 337226 chr12 104126845 104126845 C A rs746086680 STAB2 Nonsynonymous SNV P1782H 0 0 0 0 0 0 0 0 0 0 0 0 32 337227 chr12 10954635 10954635 G A TAS2R7 Nonsynonymous SNV H179Y 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337228 chr12 122064735 122064735 - GCC rs782013212 ORAI1 R33_S34insR 0 0 0 0 0 0 0 0 0 0 0 0 337229 chr12 132325369 132325369 A T rs200489340 MMP17 Nonsynonymous SNV D225V 0 0 0 0 0 0 0 0 0 0 0 0 24.8 337230 chr12 32481021 32481021 C A rs75160526 BICD1 Synonymous SNV T544T 0 0 0 0 0 0 0 0 0 0 0 0 15.49 337231 chr12 41374801 41374801 G A rs199886411 CNTN1 Nonsynonymous SNV S621N 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 23.8 337232 chr12 51754565 51754565 G A rs761146974 GALNT6 Synonymous SNV I369I 0 0 0 0 0 0 0 0 0 0 0 0 16.16 337233 chr12 52943986 52943986 C T KRT71 Synonymous SNV K161K 0 0 0 0 0 0 0 0 0 0 0 0 13.92 337234 chr12 53069385 53069385 G A rs371428130 KRT1 Synonymous SNV H509H 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 8.061 337235 chr12 53202524 53202524 G A rs778125368 KRT4 Synonymous SNV Y315Y 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 6.269 337236 chr12 54676412 54676412 T C rs182586860 HNRNPA1 Synonymous SNV N213N 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 4.238 337237 chr12 56641901 56641901 G A rs200784937 ANKRD52 Synonymous SNV R628R 0 0 0 0 0 0 0 0 0 0 0 0 13.69 337238 chr12 7476073 7476073 A C rs754728409 ACSM4 Nonsynonymous SNV N409H 0 0 0 0 0 0 0 0 0 0 0 0 11.33 337239 chr12 77423746 77423746 T C rs781766207 E2F7 Synonymous SNV T583T 0 0 0 0 0 0 0 0 0 0 0 0 0.1 337240 chr12 81799621 81799621 G A rs529050746 PPFIA2 Nonsynonymous SNV S137F 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337241 chr12 91572142 91572142 C G DCN Nonsynonymous SNV R63P 0 0 0 0 0 0 0 0 0 0 0 0 35 337242 chr12 994835 994835 C T WNK1 Nonsynonymous SNV P1375L 0 0 0 0 0 0 0 0 0 0 0 0 29 337243 chr13 103249509 103249509 G A rs200366836 TPP2 Nonsynonymous SNV A41T 0 0 0 0 0 0 0 0 0 0 0 0 Benign 25.3 337244 chr13 103383524 103383524 T G rs9514051 CCDC168 Nonsynonymous SNV E6508A 0 0 0 0 0 0 0 0 0 0 0 0 15.54 337245 chr13 46924411 46924411 G A rs371701895 RUBCNL Nonsynonymous SNV S254L 0 0 0 0 0 0 0 0 0 0 0 0 34 337246 chr13 52598272 52598272 C T rs150101415 ALG11 Nonsynonymous SNV R136C 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 26.8 337247 chr13 52598895 52598895 A G rs147711581 ALG11 Synonymous SNV G343G 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 7.388 337248 chr13 58299377 58299377 T A rs148119482 PCDH17 Nonsynonymous SNV D1143E 0 0 0 0 0 0 0 0 0 0 0 0 22.6 337249 chr13 77900757 77900757 C G rs765263546 MYCBP2 Nonsynonymous SNV G52R 0 0 0 0 0 0 0 0 0 0 0 0 23.7 337250 chr13 96675361 96675361 C T rs146008554 UGGT2 Nonsynonymous SNV V140I 0 0 0 0 0 0 0 0 0 0 0 0 24.8 337251 chr14 100331853 100331853 A C rs369479741 EML1 Synonymous SNV R85R 0 0 0 0 0 0 0 0 0 0 0 0 15.27 337252 chr14 20851963 20851963 G A rs148140542 TEP1 Nonsynonymous SNV R1109C 0 0 0 0 0 0 0 0 0 0 0 0 28 337253 chr14 25043013 25043013 C G CTSG Nonsynonymous SNV D200H 0 0 0 0 0 0 0 0 0 0 0 0 23.9 337254 chr14 38725118 38725118 C T CLEC14A Nonsynonymous SNV C37Y 0 0 0 0 0 0 0 0 0 0 0 0 32 337255 chr14 39627533 39627533 T C rs149929988 TRAPPC6B Nonsynonymous SNV T75A 0 0 0 0 0 0 0 0 0 0 0 0 10.15 337256 chr14 39716420 39716420 C T rs150761357 MIA2 Synonymous SNV V214V 0 0 0 0 0 0 0 0 0 0 0 0 5.28 337257 chr14 70477524 70477524 C A rs376672665 SMOC1 Nonsynonymous SNV Q240K 0 0 0 0 0 0 0 0 0 0 0 0 19.7 337258 chr14 74512818 74512818 A G rs762866064 BBOF1 Nonsynonymous SNV H211R 0 0 0 0 0 0 0 0 0 0 0 0 26.1 337259 chr14 74976029 74976029 G A rs777998110 LTBP2 Synonymous SNV S1105S 0 0 0 0 0 0 0 0 0 0 0 0 2.866 337260 chr14 78177209 78177209 C T rs201733692 SLIRP Synonymous SNV F42F 0 0 0 0 0 0 0 0 0 0 0 0 16.46 337261 chr14 91701390 91701390 C T rs146337996 GPR68 Nonsynonymous SNV G2E 0 0 0 0 0 0 0 0 0 0 0 0 11.96 337262 chr14 93673382 93673382 T C rs534621977 GON7 Star tloss M1? 0 0 0 0 0 0 0 0 0 0 0 0 23.4 337263 chr14 96752161 96752161 G A rs151219519 ATG2B Synonymous SNV G2056G 0 0 0 0 0 0 0 0 0 0 0 0 13.51 337264 chr15 53081277 53081277 G C rs139802359 ONECUT1 Nonsynonymous SNV R269G 0 0 0 0 0 0 0 0 0 0 0 0 25 337265 chr15 59429643 59429643 C T MYO1E Stop gain W1088X 0 0 0 0 0 0 0 0 0 0 0 0 50 337266 chr15 59429648 59429648 A C MYO1E Synonymous SNV S1086S 0 0 0 0 0 0 0 0 0 0 0 0 0.057 337267 chr15 74964021 74964021 A G rs142875618 EDC3 Nonsynonymous SNV S87P 0 0 0 0 0 0 0 0 0 0 0 0 15.17 337268 chr15 81041908 81041908 C T rs371748282 ABHD17C Synonymous SNV V215V 0 0 0 0 0 0 0 0 0 0 0 0 9.56 337269 chr15 89836032 89836032 A G FANCI Synonymous SNV L702L 0 0 0 0 0 0 0 0 0 0 0 0 1.383 337270 chr16 30671164 30671169 GAGGAG - rs757765188 FBRS E114_E115del 0 0 0 0 0 0 0 0 0 0 0 0 337271 chr16 67318754 67318754 G A rs368859606 PLEKHG4 Nonsynonymous SNV A530T 0 0 0 0 0 0 0 0 0 0 0 0 25.8 337272 chr16 67943339 67943339 G A rs149085628 PSKH1 Synonymous SNV P229P 0 0 0 0 0 0 0 0 0 0 0 0 0.452 337273 chr16 721017 721017 G A rs751510377 RHOT2 Nonsynonymous SNV R7H 0 0 0 0 0 0 0 0 0 0 0 0 0.555 337274 chr16 75258781 75258781 G A rs199606765 CTRB1 Synonymous SNV P225P 0 0 0 0 0 0 0 0 0 0 0 0 4.273 337275 chr16 76572107 76572107 A C rs756904952 CNTNAP4 Synonymous SNV S901S 0 0 0 0 0 0 0 0 0 0 0 0 5.835 337276 chr16 845742 845742 G A rs118113142 CHTF18 Nonsynonymous SNV A745T 0 0 0 0 0 0 0 0 0 0 0 0 0.129 337277 chr16 84883108 84883108 C T rs773387182 CRISPLD2 Synonymous SNV C159C 0 0 0 0 0 0 0 0 0 0 0 0 11.72 337278 chr16 8862087 8862087 T C rs149271402 ABAT Nonsynonymous SNV M214T 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 14.83 337279 chr17 18047858 18047858 G A rs779305629 MYO15A Synonymous SNV T2075T 0 0 0 0 0 0 0 0 0 0 0 0 12.04 337280 chr17 38497788 38497788 G A RARA-AS1 0 0 0 0 0 0 0 0 0 0 0 0 8.479 337281 chr17 47299919 47299919 A G rs150100821 ABI3 Nonsynonymous SNV T309A 0 0 0 0 0 0 0 0 0 0 0 0 20.8 337282 chr17 54588014 54588014 T G ANKFN1 Nonsynonymous SNV V874G 0 0 0 0 0 0 0 0 0 0 0 0 22.6 337283 chr17 56382907 56382907 G A rs145553596 TSPOAP1 Synonymous SNV D1725D 0 0 0 0 0 0 0 0 0 0 0 0 8.887 337284 chr17 59466000 59466002 AAC - rs779158863 BCAS3 Q895del 0 0 0 0 0 0 0 0 0 0 0 0 337285 chr17 649947 649947 C T rs143168627 GEMIN4 Nonsynonymous SNV A446T 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 11.04 337286 chr17 65021082 65021082 C T rs372072866 CACNG4 Synonymous SNV I137I 0 0 0 0 0 0 0 0 0 0 0 0 19.3 337287 chr17 70845904 70845904 G A rs143231715 SLC39A11 Nonsynonymous SNV A164V 0 0 0 0 0 0 0 0 0 0 0 0 1.21 337288 chr17 77040187 77040187 C T rs145629828 C1QTNF1 Nonsynonymous SNV P46L 0 0 0 0 0 0 0 0 0 0 0 0 9.76 337289 chr17 79986281 79986281 G T rs376967468 LRRC45 Nonsynonymous SNV E378D 0 0 0 0 0 0 0 0 0 0 0 0 13.16 337290 chr18 10485561 10485561 G A rs150205350 APCDD1 Nonsynonymous SNV G293R 0 0 0 0 0 0 0 0 0 0 0 0 33 337291 chr18 12367073 12367073 A T rs766261237 AFG3L2 Nonsynonymous SNV L148H 0 0 0 0 0 0 0 0 0 0 0 0 28.6 337292 chr18 756794 756794 G A rs763236969 YES1 Nonsynonymous SNV P12S 0 0 0 0 0 0 0 0 0 0 0 0 15.79 337293 chr19 14184391 14184391 G A rs921461442 MISP3 Synonymous SNV R90R 0 0 0 0 0 0 0 0 0 0 0 0 4.231 337294 chr19 15227225 15227225 G A rs760241766 ILVBL Nonsynonymous SNV T432I 0 0 0 0 0 0 0 0 0 0 0 0 14.95 337295 chr19 24310535 24310535 A T rs146064293 ZNF254 Nonsynonymous SNV E493V 0 0 0 0 0 0 0 0 0 0 0 0 25.2 337296 chr19 35449050 35449050 G C rs139550077 ZNF792 Nonsynonymous SNV A570G 0 0 0 0 0 0 0 0 0 0 0 0 23.3 337297 chr19 36054293 36054293 A G rs200082565 ATP4A Nonsynonymous SNV M50T 0 0 0 0 0 0 0 0 0 0 0 0 22.4 337298 chr19 36612468 36612468 G A rs578101320 TBCB Nonsynonymous SNV R132Q 0 0 0 0 0 0 0 0 0 0 0 0 17.53 337299 chr19 38377533 38377533 C G rs763005735 WDR87 Nonsynonymous SNV E2260Q 0 0 0 0 0 0 0 0 0 0 0 0 2.552 337300 chr19 42880815 42880815 G A rs11881304 MEGF8 Nonsynonymous SNV R2742K 0 0 0 0 0 0 0 0 0 0 0 0 Benign 21 337301 chr19 44117894 44117896 AAG - rs756831011 SRRM5 K541del 0 0 0 0 0 0 0 0 0 0 0 0 337302 chr19 44932498 44932498 C A rs749368143 ZNF229 Nonsynonymous SNV G814C 0 0 0 0 0 0 0 0 0 0 0 0 14.67 337303 chr19 47584834 47584834 T C rs777076701 ZC3H4 Nonsynonymous SNV N459S 0 0 0 0 0 0 0 0 0 0 0 0 22.3 337304 chr19 51015682 51015682 C T rs138962881 ASPDH Synonymous SNV A91A 0 0 0 0 0 0 0 0 0 0 0 0 17.54 337305 chr19 55556454 55556454 G T rs61741475 RDH13 Synonymous SNV P328P 0 0 0 0 0 0 0 0 0 0 0 0 7.645 337306 chr19 55568071 55568071 T G rs772311109 RDH13 Nonsynonymous SNV D97A 0 0 0 0 0 0 0 0 0 0 0 0 26.9 337307 chr19 55789084 55789084 G A rs759133962 HSPBP1 Nonsynonymous SNV A160V 0 0 0 0 0 0 0 0 0 0 0 0 11.12 337308 chr19 56114232 56114232 G A rs762697294 ZNF524 Nonsynonymous SNV E252K 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337309 chr19 6744819 6744819 C T rs528391686 TRIP10 Synonymous SNV H266H 0 0 0 0 0 0 0 0 0 0 0 0 13.06 337310 chr19 691965 691965 C T rs375847605 PRSS57 Nonsynonymous SNV V91I 0 0 0 0 0 0 0 0 0 0 0 0 3.653 337311 chr19 9049964 9049964 G T MUC16 Nonsynonymous SNV T10556K 0 0 0 0 0 0 0 0 0 0 0 0 4.011 337312 chr1 14106165 14106165 T C rs149932968 PRDM2 Synonymous SNV P424P 0 0 0 0 0 0 0 0 0 0 0 0 0.69 337313 chr1 152058134 152058134 G A rs1016149764 TCHHL1 Nonsynonymous SNV A675V 0 0 0 0 0 0 0 0 0 0 0 0 8.712 337314 chr1 154479381 154479381 T A TDRD10 Star tloss M1? 0 0 0 0 0 0 0 0 0 0 0 0 15.01 337315 chr1 156593354 156593354 C T rs138640704 HAPLN2 Synonymous SNV A24A 0 0 0 0 0 0 0 0 0 0 0 0 Benign 15.15 337316 chr1 158226635 158226635 G C rs760559991 CD1A Nonsynonymous SNV V211L 0 0 0 0 0 0 0 0 0 0 0 0 9.293 337317 chr1 158368552 158368552 C T OR10T2 Synonymous SNV K235K 0 0 0 0 0 0 0 0 0 0 0 0 7.176 337318 chr1 171254588 171254588 C T rs60639054 FMO1 Stop gain R506X 0 0 0 0 0 0 0 0 0 0 0 0 36 337319 chr1 173516907 173516907 T C rs140112573 SLC9C2 Nonsynonymous SNV H493R 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337320 chr1 186329082 186329082 T G TPR Nonsynonymous SNV K413T 0 0 0 0 0 0 0 0 0 0 0 0 24.1 337321 chr1 197009687 197009687 C T F13B Synonymous SNV G639G 0 0 0 0 0 0 0 0 0 0 0 0 14 337322 chr1 204588416 204588416 C T LRRN2 Synonymous SNV G235G 0 0 0 0 0 0 0 0 0 0 0 0 6.561 337323 chr1 205027742 205027742 T C CNTN2 Synonymous SNV H146H 0 0 0 0 0 0 0 0 0 0 0 0 0.03 337324 chr1 206775756 206775756 C T rs782812788 EIF2D Nonsynonymous SNV R279Q 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337325 chr1 214818368 214818368 A G rs777866763 CENPF Nonsynonymous SNV M1819V 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337326 chr1 22199545 22199545 T C rs1023274969 HSPG2 Nonsynonymous SNV D1279G 0 0 0 0 0 0 0 0 0 0 0 0 24.6 337327 chr1 236706295 236706295 C T rs146524530 LGALS8 Synonymous SNV H210H 0 0 0 0 0 0 0 0 0 0 0 0 14.26 337328 chr1 23688778 23688778 G C ZNF436 Nonsynonymous SNV A348G 0 0 0 0 0 0 0 0 0 0 0 0 21.8 337329 chr1 24447529 24447529 G A rs147491269 IL22RA1 Synonymous SNV P497P 0 0 0 0 0 0 0 0 0 0 0 0 12.37 337330 chr1 24710395 24710395 T C rs150789506 STPG1 Synonymous SNV S49S 0 0 0 0 0 0 0 0 0 0 0 0 0.006 337331 chr1 247464211 247464211 C G rs780400418 ZNF496 Nonsynonymous SNV E458D 0 0 0 0 0 0 0 0 0 0 0 0 23.3 337332 chr1 32208500 32208500 G A rs369964162 ADGRB2 Synonymous SNV G397G 0 0 0 0 0 0 0 0 0 0 0 0 14.04 337333 chr1 33402722 33402722 G A rs542372584 RNF19B Synonymous SNV G627G 0 0 0 0 0 0 0 0 0 0 0 0 8.438 337334 chr1 38280944 38280944 G T MTF1 Nonsynonymous SNV T709K 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337335 chr1 46747036 46747036 C T rs140244443 LRRC41 Nonsynonymous SNV R506H 0 0 0 0 0 0 0 0 0 0 0 0 25.2 337336 chr1 50885339 50885339 C T rs371384511 DMRTA2 Synonymous SNV P209P 0 0 0 0 0 0 0 0 0 0 0 0 16.63 337337 chr1 51032803 51032803 C T rs144912793 FAF1 Nonsynonymous SNV S405N 0 0 0 0 0 0 0 0 0 0 0 0 18.08 337338 chr1 62910836 62910836 A G rs376772835 USP1 Nonsynonymous SNV R329G 0 0 0 0 0 0 0 0 0 0 0 0 8.763 337339 chr1 6528287 6528287 G A rs772693344 PLEKHG5 Nonsynonymous SNV P870L 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 2.073 337340 chr1 91989813 91989813 G A rs757454355 CDC7 Nonsynonymous SNV G516R 0 0 0 0 0 0 0 0 0 0 0 0 0.193 337341 chr20 25457679 25457679 C A rs149090993 NINL Nonsynonymous SNV A750S 0 0 0 0 0 0 0 0 0 0 0 0 18.48 337342 chr20 43348699 43348699 G C rs899707510 CCN5 Nonsynonymous SNV Q74H 0 0 0 0 0 0 0 0 0 0 0 0 23.6 337343 chr20 43726983 43726983 C T rs776913037 KCNS1 Nonsynonymous SNV G144S 0 0 0 0 0 0 0 0 0 0 0 0 18.91 337344 chr21 33044507 33044507 C T rs776467137 SCAF4 Synonymous SNV P868P 0 0 0 0 0 0 0 0 0 0 0 0 9.925 337345 chr21 40571120 40571120 T C BRWD1 Nonsynonymous SNV H1741R 0 0 0 0 0 0 0 0 0 0 0 0 0.004 337346 chr21 43529790 43529790 C T rs143654565 UMODL1 Synonymous SNV R546R 0 0 0 0 0 0 0 0 0 0 0 0 9.858 337347 chr21 43796671 43796671 C T rs140620963 TMPRSS3 Synonymous SNV T264T 0 0 0 0 0 0 0 0 0 0 0 0 13.69 337348 chr21 44590501 44590501 T C CRYAA, CRYAA2 Synonymous SNV C20C 0 0 0 0 0 0 0 0 0 0 0 0 1.574 337349 chr21 47410932 47410932 G A rs183994910 COL6A1 Nonsynonymous SNV A366T 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.28 337350 chr22 28379604 28379604 G A rs963677104 TTC28 Synonymous SNV P2017P 0 0 0 0 0 0 0 0 0 0 0 0 5.841 337351 chr22 30977574 30977574 G A PES1 Synonymous SNV L230L 0 0 0 0 0 0 0 0 0 0 0 0 10.53 337352 chr22 32625326 32625326 G A rs754133867 SLC5A4 Stop gain R379X 0 0 0 0 0 0 0 0 0 0 0 0 36 337353 chr22 41833152 41833152 G A rs766219151 TOB2 Synonymous SNV P66P 0 0 0 0 0 0 0 0 0 0 0 0 2.661 337354 chr22 42610608 42610608 T C rs966966204 TCF20 Nonsynonymous SNV Y235C 0 0 0 0 0 0 0 0 0 0 0 0 24.6 337355 chr2 169038566 169038566 T C rs201367672 STK39 Synonymous SNV L81L 0 0 0 0 0 0 0 0 0 0 0 0 0.771 337356 chr2 170100012 170100012 G C LRP2 Nonsynonymous SNV P1151A 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337357 chr2 172644108 172644108 C G SLC25A12 Nonsynonymous SNV R603P 0 0 0 0 0 0 0 0 0 0 0 0 34 337358 chr2 180810071 180810071 G A CWC22 Nonsynonymous SNV H838Y 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337359 chr2 1926503 1926503 C T rs368693343 MYT1L Synonymous SNV P346P 0 0 0 0 0 0 0 0 0 0 0 0 6.863 337360 chr2 201437003 201437003 - T rs771387868 SGO2 Frameshift insertion K649Qfs*6 0 0 0 0 0 0 0 0 0 0 0 0 337361 chr2 20494250 20494250 C T rs768924232 PUM2 Nonsynonymous SNV G291S 0 0 0 0 0 0 0 0 0 0 0 0 35 337362 chr2 207310170 207310170 A G rs146724325 ADAM23 Nonsynonymous SNV I118M 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 15.08 337363 chr2 21364263 21364263 G A rs541413434 TDRD15 Synonymous SNV A1308A 0 0 0 0 0 0 0 0 0 0 0 0 12.15 337364 chr2 219507654 219507654 C G rs376670636 ZNF142 Nonsynonymous SNV E1195D 0 0 0 0 0 0 0 0 0 0 0 0 22.6 337365 chr2 219875718 219875718 T A rs139440719 CFAP65 Nonsynonymous SNV I1320F 0 0 0 0 0 0 0 0 0 0 0 0 28.4 337366 chr2 231311607 231311607 T C rs372049518 SP100 Synonymous SNV S146S 0 0 0 0 0 0 0 0 0 0 0 0 0.345 337367 chr2 242437730 242437730 - GG STK25 Frameshift insertion I318Pfs*88 0 0 0 0 0 0 0 0 0 0 0 0 337368 chr2 27715558 27715558 T C rs74867758 FNDC4 Nonsynonymous SNV Q215R 0 0 0 0 0 0 0 0 0 0 0 0 12.03 337369 chr2 38178436 38178436 C T rs181813340 RMDN2 Synonymous SNV D26D 0 0 0 0 0 0 0 0 0 0 0 0 10.1 337370 chr2 38570502 38570502 C T ATL2 Nonsynonymous SNV D91N 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337371 chr2 42931403 42931403 G T MTA3 Synonymous SNV G301G 0 0 0 0 0 0 0 0 0 0 0 0 7.865 337372 chr2 50850686 50850686 G A rs2303298 NRXN1 Synonymous SNV P280P 0 0 0 0 0 0 0 0 0 0 0 0 Benign 8.68 337373 chr2 71298840 71298840 C A rs149052839 NAGK Nonsynonymous SNV Q29K 0 0 0 0 0 0 0 0 0 0 0 0 23.3 337374 chr2 84960619 84960619 G A rs114604025 DNAH6 Nonsynonymous SNV A3420T 0 0 0 0 0 0 0 0 0 0 0 0 4.225 337375 chr3 10276171 10276171 G C rs770238130 IRAK2 Nonsynonymous SNV S434T 0 0 0 0 0 0 0 0 0 0 0 0 14.15 337376 chr3 108746640 108746640 C T rs746703220 MORC1 Synonymous SNV S554S 0 0 0 0 0 0 0 0 0 0 0 0 12.91 337377 chr3 121190999 121190999 T C rs747524472 POLQ Nonsynonymous SNV K2186E 0 0 0 0 0 0 0 0 0 0 0 0 31 337378 chr3 128618189 128618189 C T rs778831368 ACAD9 Synonymous SNV V231V 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 11.09 337379 chr3 14706570 14706570 G A rs138052160 CCDC174 Nonsynonymous SNV R174H 0 0 0 0 0 0 0 0 0 0 0 0 34 337380 chr3 17444693 17444693 A G TBC1D5 Synonymous SNV I27I 0 0 0 0 0 0 0 0 0 0 0 0 9.397 337381 chr3 196045017 196045017 T A TCTEX1D2 Nonsynonymous SNV T3S 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337382 chr3 48637561 48637561 T C rs368507809 UQCRC1 Nonsynonymous SNV I413V 0 0 0 0 0 0 0 0 0 0 0 0 25.6 337383 chr3 48638443 48638443 T A UQCRC1 Nonsynonymous SNV I311F 0 0 0 0 0 0 0 0 0 0 0 0 24.7 337384 chr3 54922020 54922020 C A CACNA2D3 Nonsynonymous SNV D697E 0 0 0 0 0 0 0 0 0 0 0 0 27.2 337385 chr3 55504577 55504577 G A rs769829279 WNT5A Nonsynonymous SNV T214M 0 0 0 0 0 0 0 0 0 0 0 0 24 337386 chr3 58631268 58631268 G A rs144804892 FAM3D Synonymous SNV V77V 0 0 0 0 0 0 0 0 0 0 0 0 9.593 337387 chr3 71803776 71803776 G A rs371933600 GPR27 Synonymous SNV V192V 0 0 0 0 0 0 0 0 0 0 0 0 11.73 337388 chr4 111470904 111470904 G T rs138109608 ENPEP Nonsynonymous SNV R788L 0 0 0 0 0 0 0 0 0 0 0 0 27.7 337389 chr4 139993135 139993135 C A ELF2 Nonsynonymous SNV R77S 0 0 0 0 0 0 0 0 0 0 0 0 23.7 337390 chr4 164393716 164393716 C G TKTL2 Nonsynonymous SNV G391R 0 0 0 0 0 0 0 0 0 0 0 0 14.97 337391 chr4 170428253 170428253 T C rs371562840 NEK1 Nonsynonymous SNV K551E 0 0 0 0 0 0 0 0 0 0 0 0 25.9 337392 chr4 187629534 187629534 A G FAT1 Nonsynonymous SNV M483T 0 0 0 0 0 0 0 0 0 0 0 0 13.44 337393 chr4 22394278 22394278 T C ADGRA3 Synonymous SNV T839T 0 0 0 0 0 0 0 0 0 0 0 0 8.498 337394 chr4 677029 677029 C G SLC49A3 Nonsynonymous SNV G256A 0 0 0 0 0 0 0 0 0 0 0 0 4.261 337395 chr4 79229256 79229256 C T rs772777587 FRAS1 Nonsynonymous SNV T524M 0 0 0 0 0 0 0 0 0 0 0 0 14.39 337396 chr4 79522706 79522706 T C ANXA3 Nonsynonymous SNV L258P 0 0 0 0 0 0 0 0 0 0 0 0 28 337397 chr5 123984031 123984031 C T rs772342752 ZNF608 Synonymous SNV A682A 0 0 0 0 0 0 0 0 0 0 0 0 6.418 337398 chr5 146754751 146754751 G A rs201872613 STK32A Synonymous SNV E334E 0 0 0 0 0 0 0 0 0 0 0 0 12.35 337399 chr5 148421128 148421128 T A rs772584531 SH3TC2 Nonsynonymous SNV E194D 0 0 0 0 0 0 0 0 0 0 0 0 15.54 337400 chr5 151202403 151202403 G A rs62636581 GLRA1 Nonsynonymous SNV P311L 0 0 0 0 0 0 0 0 0 0 0 0 Benign 17.85 337401 chr5 179393978 179393978 G A rs138874429 RNF130 Synonymous SNV F326F 0 0 0 0 0 0 0 0 0 0 0 0 12.48 337402 chr5 37396622 37396624 GAA - rs775174938 WDR70 E130del 0 0 0 0 0 0 0 0 0 0 0 0 337403 chr5 55059024 55059024 G A rs773321759 DDX4 Nonsynonymous SNV R76Q 0 0 0 0 0 0 0 0 0 0 0 0 15.28 337404 chr5 55466617 55466617 C G ANKRD55 Nonsynonymous SNV G109A 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337405 chr5 57751605 57751605 G A rs756695967 PLK2 Synonymous SNV C462C 0 0 0 0 0 0 0 0 0 0 0 0 10.59 337406 chr5 64887716 64887716 T C rs368662476 TRIM23 Synonymous SNV L535L 0 0 0 0 0 0 0 0 0 0 0 0 0.122 337407 chr5 77330199 77330199 G A rs62001052 AP3B1 Synonymous SNV A911A 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.06 337408 chr5 81608637 81608637 G A ATP6AP1L Synonymous SNV S113S 0 0 0 0 0 0 0 0 0 0 0 0 4.19 337409 chr6 106960433 106960433 G A rs140169285 CRYBG1 Nonsynonymous SNV A73T 0 0 0 0 0 0 0 0 0 0 0 0 12.36 337410 chr6 12123785 12123785 G A rs148091729 HIVEP1 Nonsynonymous SNV D1253N 0 0 0 0 0 0 0 0 0 0 0 0 24.8 337411 chr6 129762036 129762036 A G rs56035053 LAMA2 Nonsynonymous SNV Q2054R 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 2.456 337412 chr6 151673235 151673235 T C AKAP12 Nonsynonymous SNV S1132P 0 0 0 0 0 0 0 0 0 0 0 0 16.32 337413 chr6 152688434 152688434 C T rs200222988 SYNE1 Synonymous SNV T3304T 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 13.31 337414 chr6 160461740 160461740 G A rs757624285 IGF2R Synonymous SNV A488A 0 0 0 0 0 0 0 0 0 0 0 0 13.39 337415 chr6 160484651 160484651 A G rs756086081 IGF2R Nonsynonymous SNV H1292R 0 0 0 0 0 0 0 0 0 0 0 0 2.242 337416 chr6 41553256 41553256 G T FOXP4 0 0 0 0 0 0 0 0 0 0 0 0 24.2 337417 chr6 51889685 51889685 A G PKHD1 Synonymous SNV D1641D 0 0 0 0 0 0 0 0 0 0 0 0 0.757 337418 chr6 54186141 54186141 G T rs773348851 TINAG Nonsynonymous SNV V156F 0 0 0 0 0 0 0 0 0 0 0 0 25 337419 chr6 64431515 64431515 - AA EYS Stop gain T2805* 0 0 0 0 0 0 0 0 0 0 0 0 337420 chr6 71567665 71567665 A G rs771090826 SMAP1 Synonymous SNV Q307Q 0 0 0 0 0 0 0 0 0 0 0 0 6.435 337421 chr6 76558136 76558136 G T rs375754710 MYO6 Synonymous SNV T322T 0 0 0 0 0 0 0 0 0 0 0 0 10.51 337422 chr7 101838844 101838844 G A CUX1 Nonsynonymous SNV E390K 0 0 0 0 0 0 0 0 0 0 0 0 24.8 337423 chr7 102949526 102949526 C G PMPCB Nonsynonymous SNV S326C 0 0 0 0 0 0 0 0 0 0 0 0 33 337424 chr7 107341571 107341573 ATA - rs776068119 SLC26A4 N579del 0 0 0 0 0 0 0 0 0 0 0 0 337425 chr7 107720090 107720090 G T rs201909531 LAMB4 Nonsynonymous SNV P615T 0 0 0 0 0 0 0 0 0 0 0 0 24.1 337426 chr7 108155065 108155065 G A PNPLA8 Nonsynonymous SNV L291F 0 0 0 0 0 0 0 0 0 0 0 0 15.84 337427 chr7 116199240 116199240 C T rs143730366 CAV1 Nonsynonymous SNV R115C 0 0 0 0 0 0 0 0 0 0 0 0 29.7 337428 chr7 122342400 122342400 C T rs776153272 RNF148 Synonymous SNV T135T 0 0 0 0 0 0 0 0 0 0 0 0 13.53 337429 chr7 148709353 148709353 G A rs61739280 PDIA4 Nonsynonymous SNV P243L 0 0 0 0 0 0 0 0 0 0 0 0 Benign 9.244 337430 chr7 149576474 149576474 C T rs759772681 ATP6V0E2 Nonsynonymous SNV S117L 0 0 0 0 0 0 0 0 0 0 0 0 9.926 337431 chr7 150873354 150873354 C T rs760877752 ASB10 Nonsynonymous SNV A379T 0 0 0 0 0 0 0 0 0 0 0 0 24 337432 chr7 158621809 158621809 C A rs373083132 ESYT2 Nonsynonymous SNV G101W 0 0 0 0 0 0 0 0 0 0 0 0 29.6 337433 chr7 27285793 27285793 G A rs756788009 EVX1 Nonsynonymous SNV A143T 0 0 0 0 0 0 0 0 0 0 0 0 34 337434 chr7 42004575 42004575 C A rs755242942 GLI3 Nonsynonymous SNV G1366W 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337435 chr7 47854937 47854937 C T PKD1L1 Nonsynonymous SNV A2362T 0 0 0 0 0 0 0 0 0 0 0 0 0.1 337436 chr7 48313520 48313520 T C rs754439581 ABCA13 Synonymous SNV N1419N 0 0 0 0 0 0 0 0 0 0 0 0 0.011 337437 chr7 6193508 6193508 G T rs764138389 USP42 Nonsynonymous SNV A775S 0 0 0 0 0 0 0 0 0 0 0 0 1.541 337438 chr7 76950130 76950130 A G GSAP Synonymous SNV S420S 0 0 0 0 0 0 0 0 0 0 0 0 0.511 337439 chr7 82470819 82470819 C T rs369280378 PCLO Nonsynonymous SNV D4685N 0 0 0 0 0 0 0 0 0 0 0 0 24.1 337440 chr7 82764900 82764900 A C rs111588909 PCLO Nonsynonymous SNV S656A 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 5.761 337441 chr7 99668913 99668913 A G rs763775437 ZNF3 Synonymous SNV C405C 0 0 0 0 0 0 0 0 0 0 0 0 3.071 337442 chr8 10583809 10583809 G A rs138069173 SOX7 Synonymous SNV P202P 0 0 0 0 0 0 0 0 0 0 0 0 2.664 337443 chr8 10584038 10584038 C T rs536275473 SOX7 Nonsynonymous SNV C126Y 0 0 0 0 0 0 0 0 0 0 0 0 24.8 337444 chr8 113349032 113349032 T C rs749999465 CSMD3 Nonsynonymous SNV M2090V 0 0 0 0 0 0 0 0 0 0 0 0 10.84 337445 chr8 124358918 124358918 C A rs201646245 ATAD2 Nonsynonymous SNV G762V 0 0 0 0 0 0 0 0 0 0 0 0 21.8 337446 chr8 24184076 24184076 A T rs751655103 ADAM28 Nonsynonymous SNV E300D 0 0 0 0 0 0 0 0 0 0 0 0 0.004 337447 chr8 26509859 26509859 C T rs201603613 DPYSL2 Synonymous SNV D561D 0 0 0 0 0 0 0 0 0 0 0 0 15.05 337448 chr8 41790553 41790553 T A rs140560177 KAT6A Nonsynonymous SNV I1729L 0 0 0 0 0 0 0 0 0 0 0 0 13.18 337449 chr8 6302343 6302343 C T rs190026099 MCPH1 Nonsynonymous SNV P319L 0 0 0 0 0 0 0 0 0 0 0 0 11.45 337450 chr8 65711032 65711032 C G rs1015530410 CYP7B1 Nonsynonymous SNV R38P 0 0 0 0 0 0 0 0 0 0 0 0 22.6 337451 chr8 82392700 82392700 C T FABP4 Synonymous SNV Q69Q 0 0 0 0 0 0 0 0 0 0 0 0 13.56 337452 chr8 95888473 95888473 C T rs781335888 INTS8 Synonymous SNV Y929Y 0 0 0 0 0 0 0 0 0 0 0 0 12.27 337453 chr9 107289385 107289385 C T rs202207863 OR13C4 Nonsynonymous SNV V36I 0 0 0 0 0 0 0 0 0 0 0 0 13.44 337454 chr9 107531231 107531231 G A rs774727724 NIPSNAP3B Nonsynonymous SNV R120H 0 0 0 0 0 0 0 0 0 0 0 0 3.847 337455 chr9 131346113 131346113 T C rs1015052595 SPTAN1 Synonymous SNV N686N 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 7.913 337456 chr9 139232398 139232398 C T rs376435047 GPSM1 Synonymous SNV D266D 0 0 0 0 0 0 0 0 0 0 0 0 15.52 337457 chr9 139282283 139282283 C T rs747868175 SNAPC4 Nonsynonymous SNV G381R 0 0 0 0 0 0 0 0 0 0 0 0 33 337458 chr9 20923668 20923668 G A rs59400819 FOCAD Synonymous SNV P954P 0 0 0 0 0 0 0 0 0 0 0 0 Benign 14.53 337459 chr9 79936498 79936498 C G rs747666555 VPS13A Nonsynonymous SNV S1850C 0 0 0 0 0 0 0 0 0 0 0 0 24 337460 chrX 100395669 100395669 G A rs143683105 CENPI Synonymous SNV Q495Q 0 0 0 0 0 0 0 0 0 0 0 0 7.94 337461 chrX 17820125 17820125 G A rs751440963 RAI2 Synonymous SNV D2D 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337462 chrX 24745154 24745154 C A rs746872361 POLA1 Synonymous SNV I499I 0 0 0 0 0 0 0 0 0 0 0 0 13.93 337463 chrX 38664322 38664322 G A rs771827134 MID1IP1 Synonymous SNV V41V 0 0 0 0 0 0 0 0 0 0 0 0 6.553 337464 chrX 39923713 39923713 G A rs137923016 BCOR Synonymous SNV H1108H 0 0 0 0 0 0 0 0 0 0 0 0 Benign 3.523 337465 chrX 51150915 51150915 C T EZHIP Synonymous SNV S349S 0 0 0 0 0 0 0 0 0 0 0 0 3.495 337466 chrX 63579291 63579291 T C rs146850880 MTMR8 Synonymous SNV E47E 0 0 0 0 0 0 0 0 0 0 0 0 3.996 337467 chrX 66766351 66766353 GGT - rs746958859 AR G473del 0 0 0 0 0 0 0 0 0 0 0 0 337468 chrX 69501537 69501537 T A ARR3 Nonsynonymous SNV I363K 0 0 0 0 0 0 0 0 0 0 0 0 26.3 337469 chrX 71359943 71359943 G A NHSL2 Nonsynonymous SNV E849K 0 0 0 0 0 0 0 0 0 0 0 0 19.36 337470 chrX 9862952 9862952 C T rs192556048 SHROOM2 Nonsynonymous SNV A335V 0 0 0 0 0 0 0 0 0 0 0 0 5.799 337471 chr1 3425710 3425710 T C MEGF6 Nonsynonymous SNV Q486R 0 0 0 0 0 0 0 0 0 0 0 0 0.403 337472 chr1 16535174 16535174 G A rs146746432 ARHGEF19 Nonsynonymous SNV R126C 0 0 0 0 0 0 0 0 0 0 0 0 23.4 337473 chr1 22149947 22149947 G C rs777552923 HSPG2 Synonymous SNV G4347G 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 11.06 337474 chr1 23760829 23760829 G C rs765114680 ASAP3 Nonsynonymous SNV N614K 0 0 0 0 0 0 0 0 0 0 0 0 24.2 337475 chr1 23768690 23768690 G A rs566031427 ASAP3 Synonymous SNV H211H 0 0 0 0 0 0 0 0 0 0 0 0 11.2 337476 chr1 25554686 25554686 A G rs765562725 SYF2 Nonsynonymous SNV L58S 0 0 0 0 0 0 0 0 0 0 0 0 25.5 337477 chr1 32673680 32673680 C T rs765176429 IQCC Synonymous SNV G546G 0 0 0 0 0 0 0 0 0 0 0 0 10.02 337478 chr1 32841990 32841990 G A rs776152956 BSDC1 Synonymous SNV T248T 0 0 0 0 0 0 0 0 0 0 0 0 12 337479 chr1 33235787 33235787 A G rs144573877 KIAA1522 Nonsynonymous SNV E277G 0 0 0 0 0 0 0 0 0 0 0 0 22.7 337480 chr1 43887786 43887786 A G rs556180436 SZT2 Synonymous SNV S553S 0 0 0 0 0 0 0 0 0 0 0 0 9.075 337481 chr1 45292627 45292627 G A rs377325413 PTCH2 Nonsynonymous SNV P881L 0 0 0 0 0 0 0 0 0 0 0 0 19.13 337482 chr1 48688453 48688453 C T rs150512665 SLC5A9 Synonymous SNV D15D 0 0 0 0 0 0 0 0 0 0 0 0 10.88 337483 chr1 55505657 55505657 G C rs747002272 PCSK9 Nonsynonymous SNV E49D 0 0 0 0 0 0 0 0 0 0 0 0 17.01 337484 chr1 57476376 57476376 C T rs114941053 DAB1 Nonsynonymous SNV G554S 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337485 chr1 94639517 94639517 A G rs372858305 ARHGAP29 Synonymous SNV L1168L 0 0 0 0 0 0 0 0 0 0 0 0 7.075 337486 chr1 114500835 114500835 C G rs749346995 HIPK1 Nonsynonymous SNV Q241E 0 0 0 0 0 0 0 0 0 0 0 0 26.6 337487 chr1 116947066 116947066 - C rs528281918 ATP1A1 X1024delinsX 0 0 0 0 0 0 0 0 0 0 0 0 337488 chr1 119929382 119929382 T C rs754393671 HAO2 Synonymous SNV A233A 0 0 0 0 0 0 0 0 0 0 0 0 6.019 337489 chr1 149885237 149885237 C A rs782780934 SV2A Nonsynonymous SNV E52D 0 0 0 0 0 0 0 0 0 0 0 0 5.02 337490 chr1 151503151 151503151 C T rs573563734 CGN Nonsynonymous SNV R834W 0 0 0 0 0 0 0 0 0 0 0 0 28.5 337491 chr1 156640469 156640469 C T rs150686645 NES Nonsynonymous SNV G1171S 0 0 0 0 0 0 0 0 0 0 0 0 21.2 337492 chr1 162351741 162351741 G A rs200213184 C1orf226 Nonsynonymous SNV R17H 0 0 0 0 0 0 0 0 0 0 0 0 21.9 337493 chr1 163317577 163317577 G T NUF2 Stop gain E325X 0 0 0 0 0 0 0 0 0 0 0 0 49 337494 chr1 167384783 167384783 T C POU2F1 Synonymous SNV T616T 0 0 0 0 0 0 0 0 0 0 0 0 0.658 337495 chr1 170967430 170967430 C G rs777957206 MROH9 Nonsynonymous SNV D537E 0 0 0 0 0 0 0 0 0 0 0 0 9.922 337496 chr1 183095327 183095327 C G LAMC1 Synonymous SNV P958P 0 0 0 0 0 0 0 0 0 0 0 0 13.6 337497 chr1 200635246 200635246 C A rs764677560 DDX59 Nonsynonymous SNV C208F 0 0 0 0 0 0 0 0 0 0 0 0 26.3 337498 chr1 201009070 201009070 C G rs763122487 CACNA1S Nonsynonymous SNV E1837D 0 0 0 0 0 0 0 0 0 0 0 0 19.35 337499 chr1 201196111 201196111 G A rs375211075 IGFN1 Nonsynonymous SNV E3630K 0 0 0 0 0 0 0 0 0 0 0 0 32 337500 chr1 201356214 201356214 C T rs201050623 LAD1 Nonsynonymous SNV R92Q 0 0 0 0 0 0 0 0 0 0 0 0 27.2 337501 chr1 203033060 203033060 C T rs772858556 PPFIA4 Synonymous SNV D984D 0 0 0 0 0 0 0 0 0 0 0 0 17.26 337502 chr1 228562285 228562285 G C rs55883237 OBSCN 0 0 0 0 0 0 0 0 0 0 0 0 22.3 337503 chr1 248551279 248551279 G A rs201925418 OR2T6 Nonsynonymous SNV V124M 0 0 0 0 0 0 0 0 0 0 0 0 22.6 337504 chr2 15319164 15319164 C T rs574794539 NBAS Nonsynonymous SNV R2263Q 0 0 0 0 0 0 0 0 0 0 0 0 0.007 337505 chr2 26802202 26802202 C T rs749039910 FAM166C Nonsynonymous SNV T155I 0 0 0 0 0 0 0 0 0 0 0 0 6.814 337506 chr2 27801999 27801999 C A C2orf16 Nonsynonymous SNV Q854K 0 0 0 0 0 0 0 0 0 0 0 0 19.36 337507 chr2 48873781 48873781 T C rs141150905 GTF2A1L, STON1-GTF2A1L Nonsynonymous SNV V159A 0 0 0 0 0 0 0 0 0 0 0 0 13.63 337508 chr2 55573439 55573439 C T CCDC88A Nonsynonymous SNV A305T 0 0 0 0 0 0 0 0 0 0 0 0 27.6 337509 chr2 73678930 73678930 A G rs200293447 ALMS1 Nonsynonymous SNV Y1758C 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 23.1 337510 chr2 96950959 96950959 G A rs760524917 SNRNP200 Nonsynonymous SNV R1375C 0 0 0 0 0 0 0 0 0 0 0 0 35 337511 chr2 103095617 103095617 C A rs752787129 SLC9A4 Nonsynonymous SNV N192K 0 0 0 0 0 0 0 0 0 0 0 0 20.6 337512 chr2 105890145 105890145 G A rs755103695 TGFBRAP1 Synonymous SNV V556V 0 0 0 0 0 0 0 0 0 0 0 0 13.28 337513 chr2 113082092 113082092 C T ZC3H6 Synonymous SNV H568H 0 0 0 0 0 0 0 0 0 0 0 0 9.825 337514 chr2 113676224 113676224 C T IL37 Synonymous SNV N104N 0 0 0 0 0 0 0 0 0 0 0 0 3.076 337515 chr2 128350473 128350473 G A MYO7B Synonymous SNV E699E 0 0 0 0 0 0 0 0 0 0 0 0 0.662 337516 chr2 152320010 152320012 AAT - RIF1 N1327del 0 0 0 0 0 0 0 0 0 0 0 0 337517 chr2 152522895 152522895 G A rs766168868 NEB Synonymous SNV Y1580Y 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 8.383 337518 chr2 160698882 160698882 A G rs149774118 LY75, LY75-CD302 Nonsynonymous SNV F1052L 0 0 0 0 0 0 0 0 0 0 0 0 12.61 337519 chr2 171638830 171638830 G A rs368349693 ERICH2 Nonsynonymous SNV E267K 0 0 0 0 0 0 0 0 0 0 0 0 3.736 337520 chr2 179611778 179611778 A C rs201308378 TTN Nonsynonymous SNV Y5117D 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 8.976 337521 chr2 208615738 208615738 C T rs61729929 CCNYL1 Synonymous SNV A237A 0 0 0 0 0 0 0 0 0 0 0 0 13.96 337522 chr2 208632096 208632096 G A rs141749213 FZD5 Synonymous SNV L456L 0 0 0 0 0 0 0 0 0 0 0 0 Benign 7.754 337523 chr2 218700814 218700814 A T rs140634729 TNS1 Nonsynonymous SNV V918D 0 0 0 0 0 0 0 0 0 0 0 0 29.8 337524 chr2 218765288 218765288 G A rs770678577 MIR6809 0 0 0 0 0 0 0 0 0 0 0 0 3.229 337525 chr2 226378378 226378378 G T NYAP2 Nonsynonymous SNV E171D 0 0 0 0 0 0 0 0 0 0 0 0 10.02 337526 chr3 8669449 8669449 G A rs766780350 SSUH2 Synonymous SNV C203C 0 0 0 0 0 0 0 0 0 0 0 0 9.136 337527 chr3 10331494 10331494 C T rs113751742 GHRL Synonymous SNV P47P 0 0 0 0 0 0 0 0 0 0 0 0 14.21 337528 chr3 17275221 17275221 T C rs199919514 TBC1D5 Nonsynonymous SNV D401G 0 0 0 0 0 0 0 0 0 0 0 0 17.45 337529 chr3 42560774 42560774 G A rs202125390 VIPR1 Nonsynonymous SNV V35I 0 0 0 0 0 0 0 0 0 0 0 0 24.1 337530 chr3 48685847 48685847 G A CELSR3 Synonymous SNV D2275D 0 0 0 0 0 0 0 0 0 0 0 0 8.439 337531 chr3 49042318 49042318 G A rs149713068 P4HTM Synonymous SNV S304S 0 0 0 0 0 0 0 0 0 0 0 0 13.62 337532 chr3 52521453 52521453 G A rs138175917 NISCH Nonsynonymous SNV V649M 0 0 0 0 0 0 0 0 0 0 0 0 0.633 337533 chr3 112991398 112991398 - TA BOC Frameshift insertion V271Mfs*12 0 0 0 0 0 0 0 0 0 0 0 0 337534 chr3 121659702 121659702 T A rs775586399 SLC15A2 Nonsynonymous SNV C649S 0 0 0 0 0 0 0 0 0 0 0 0 12.81 337535 chr3 133336043 133336043 T C rs374726727 TOPBP1 Synonymous SNV P1235P 0 0 0 0 0 0 0 0 0 0 0 0 0.038 337536 chr3 142839918 142839918 A G rs374335239 CHST2 Nonsynonymous SNV N87S 0 0 0 0 0 0 0 0 0 0 0 0 2.137 337537 chr3 142840058 142840058 G C rs776782047 CHST2 Nonsynonymous SNV G134R 0 0 0 0 0 0 0 0 0 0 0 0 16.04 337538 chr3 150289882 150289882 C T rs757247841 EIF2A Nonsynonymous SNV R256C 0 0 0 0 0 0 0 0 0 0 0 0 34 337539 chr3 155481621 155481621 A G C3orf33 Synonymous SNV D190D 0 0 0 0 0 0 0 0 0 0 0 0 7.113 337540 chr3 167747593 167747593 G A rs144800331 GOLIM4 Nonsynonymous SNV R442W 0 0 0 0 0 0 0 0 0 0 0 0 23.4 337541 chr3 183994314 183994314 G A rs376213717 ECE2 Nonsynonymous SNV E29K 0 0 0 0 0 0 0 0 0 0 0 0 17.88 337542 chr3 190321918 190321918 A G rs143469221 IL1RAP Synonymous SNV E22E 0 0 0 0 0 0 0 0 0 0 0 0 12.78 337543 chr3 194117911 194117911 C G rs74867693 GP5 Nonsynonymous SNV Q367H 0 0 0 0 0 0 0 0 0 0 0 0 8.695 337544 chr3 194118210 194118210 G A rs113052158 GP5 Synonymous SNV L268L 0 0 0 0 0 0 0 0 0 0 0 0 7.484 337545 chr3 194408444 194408444 G A rs61743405 FAM43A Nonsynonymous SNV E297K 0 0 0 0 0 0 0 0 0 0 0 0 Benign 21.7 337546 chr3 195595547 195595547 T A rs147053694 TNK2 Nonsynonymous SNV D558V 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337547 chr3 196199274 196199274 A G rs149004801 RNF168 Nonsynonymous SNV C378R 0 0 0 0 0 0 0 0 0 0 0 0 Benign 0.001 337548 chr3 196674211 196674211 G A PIGZ Synonymous SNV L519L 0 0 0 0 0 0 0 0 0 0 0 0 6.851 337549 chr4 1347134 1347134 C T rs200424814 UVSSA Synonymous SNV L289L 0 0 0 0 0 0 0 0 0 0 0 0 10.93 337550 chr4 1397230 1397230 C T rs375927221 NKX1-1 Synonymous SNV A279A 0 0 0 0 0 0 0 0 0 0 0 0 12.84 337551 chr4 26750075 26750075 A T TBC1D19 Synonymous SNV G389G 0 0 0 0 0 0 0 0 0 0 0 0 3.311 337552 chr4 44450186 44450186 C A rs780781463 KCTD8 Nonsynonymous SNV A119S 0 0 0 0 0 0 0 0 0 0 0 0 20.6 337553 chr4 47597812 47597812 C T rs749607630 CORIN Nonsynonymous SNV V915I 0 0 0 0 0 0 0 0 0 0 0 0 25.9 337554 chr4 62813870 62813870 G A rs372785017 ADGRL3 Nonsynonymous SNV R808H 0 0 0 0 0 0 0 0 0 0 0 0 23.4 337555 chr4 79393385 79393385 G A rs775728583 FRAS1 Nonsynonymous SNV E2475K 0 0 0 0 0 0 0 0 0 0 0 0 12.3 337556 chr4 86989006 86989006 G C MAPK10 Nonsynonymous SNV P302R 0 0 0 0 0 0 0 0 0 0 0 0 27.7 337557 chr4 119644767 119644767 C T rs750677983 SEC24D Nonsynonymous SNV R1002Q 0 0 0 0 0 0 0 0 0 0 0 0 25.9 337558 chr4 119979068 119979068 G A rs201372229 SYNPO2 Synonymous SNV R1224R 0 0 0 0 0 0 0 0 0 0 0 0 5.789 337559 chr4 164393379 164393379 A G rs779286631 TKTL2 Nonsynonymous SNV V503A 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337560 chr5 5461241 5461241 T C rs374094696 ICE1 Synonymous SNV D598D 0 0 0 0 0 0 0 0 0 0 0 0 0.238 337561 chr5 52189569 52189569 A G ITGA1 Nonsynonymous SNV I330V 0 0 0 0 0 0 0 0 0 0 0 0 26.6 337562 chr5 66432429 66432429 C T rs375172400 MAST4 Nonsynonymous SNV P617S 0 0 0 0 0 0 0 0 0 0 0 0 19.48 337563 chr5 89979551 89979551 A G rs752697241 ADGRV1 Nonsynonymous SNV D1938G 0 0 0 0 0 0 0 0 0 0 0 0 25.9 337564 chr5 94206631 94206631 C T rs186960588 MCTP1 Synonymous SNV L462L 0 0 0 0 0 0 0 0 0 0 0 0 10.1 337565 chr5 107717278 107717278 C G FBXL17 Nonsynonymous SNV A39P 0 0 0 0 0 0 0 0 0 0 0 0 1.611 337566 chr5 121758755 121758755 G C rs773615333 SNCAIP Nonsynonymous SNV G108A 0 0 0 0 0 0 0 0 0 0 0 0 18.31 337567 chr5 122714092 122714092 G A rs114280473 CEP120 Nonsynonymous SNV L686F 0 0 0 0 0 0 0 0 0 0 0 0 Benign 31 337568 chr5 140812528 140812528 A T PCDHGA12 Synonymous SNV G734G 0 0 0 0 0 0 0 0 0 0 0 0 0.035 337569 chr5 140812530 140812530 C T PCDHGA12 Nonsynonymous SNV A735V 0 0 0 0 0 0 0 0 0 0 0 0 0.342 337570 chr5 140812531 140812531 - T PCDHGA12 Frameshift insertion P736Sfs*51 0 0 0 0 0 0 0 0 0 0 0 0 337571 chr5 140812537 140812537 G - PCDHGA12 S738Rfs*31 0 0 0 0 0 0 0 0 0 0 0 0 337572 chr5 150501809 150501809 C T rs760463233 ANXA6 Nonsynonymous SNV D384N 0 0 0 0 0 0 0 0 0 0 0 0 33 337573 chr6 26235003 26235003 C G rs781195252 H1-3 Nonsynonymous SNV K53N 0 0 0 0 0 0 0 0 0 0 0 0 23.3 337574 chr6 26247088 26247088 G T rs775915061 H4C7 Synonymous SNV R40R 0 0 0 0 0 0 0 0 0 0 0 0 7.026 337575 chr6 43039978 43039978 - CGGTCC rs765599480 KLC4 R417_R418insSR 0 0 0 0 0 0 0 0 0 0 0 0 337576 chr6 43477410 43477410 G A LRRC73 Synonymous SNV C38C 0 0 0 0 0 0 0 0 0 0 0 0 11.22 337577 chr6 82924311 82924311 C A rs61745123 IBTK Nonsynonymous SNV A613S 0 0 0 0 0 0 0 0 0 0 0 0 19.41 337578 chr6 99823828 99823828 A G rs371116770 COQ3 Synonymous SNV C239C 0 0 0 0 0 0 0 0 0 0 0 0 8.974 337579 chr6 99893939 99893939 C T rs778642331 USP45 Nonsynonymous SNV G512E 0 0 0 0 0 0 0 0 0 0 0 0 2.714 337580 chr6 117923389 117923389 G A rs765532069 GOPC Synonymous SNV S21S 0 0 0 0 0 0 0 0 0 0 0 0 11.81 337581 chr6 144184227 144184227 A C rs41285031 LTV1 Nonsynonymous SNV K195T 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337582 chr6 166923798 166923798 C T rs760661054 RPS6KA2 Nonsynonymous SNV V18M 0 0 0 0 0 0 0 0 0 0 0 0 28.7 337583 chr7 5662731 5662731 G A rs35337338 RNF216 Synonymous SNV P844P 0 0 0 0 0 0 0 0 0 0 0 0 10.51 337584 chr7 21781619 21781619 C T rs374678451 DNAH11 Synonymous SNV S2663S 0 0 0 0 0 0 0 0 0 0 0 0 12.83 337585 chr7 23768756 23768756 G A rs754274194 STK31 Nonsynonymous SNV R101Q 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337586 chr7 48033926 48033926 C G rs369258450 SUN3 Nonsynonymous SNV E283Q 0 0 0 0 0 0 0 0 0 0 0 0 22.4 337587 chr7 73008695 73008695 G A rs185020196 MLXIPL Synonymous SNV N783N 0 0 0 0 0 0 0 0 0 0 0 0 10.58 337588 chr7 95041624 95041624 C T rs144057557 PON2 Nonsynonymous SNV D123N 0 0 0 0 0 0 0 0 0 0 0 0 25.2 337589 chr7 99091489 99091489 G A rs1019252335 ZNF394 Nonsynonymous SNV T450I 0 0 0 0 0 0 0 0 0 0 0 0 10.62 337590 chr7 100681036 100681036 G A rs151335011 MUC17 Synonymous SNV P2113P 0 0 0 0 0 0 0 0 0 0 0 0 4.724 337591 chr7 104715250 104715250 A G rs1027554650 KMT2E Synonymous SNV S239S 0 0 0 0 0 0 0 0 0 0 0 0 5.794 337592 chr7 104785735 104785735 T G rs149027278 SRPK2 Nonsynonymous SNV K259Q 0 0 0 0 0 0 0 0 0 0 0 0 27.8 337593 chr7 117171082 117171082 A T rs771512600 CFTR Nonsynonymous SNV T135S 0 0 0 0 0 0 0 0 0 0 0 0 6.926 337594 chr7 128484266 128484266 G A rs369739262 FLNC Synonymous SNV P1046P 0 0 0 0 0 0 0 0 0 0 0 0 Benign/Likely benign 9.227 337595 chr7 128587344 128587344 - GCCGCCCACTCTGCA rs994451238 IRF5 L174_R175insQPPTL 0 0 0 0 0 0 0 0 0 0 0 0 337596 chr7 141803211 141803211 C T rs528761990 MGAM Nonsynonymous SNV P1823L 0 0 0 0 0 0 0 0 0 0 0 0 0.885 337597 chr7 141831367 141831367 T C rs149525866 MGAM2 Synonymous SNV N120N 0 0 0 0 0 0 0 0 0 0 0 0 5.27 337598 chr7 149463324 149463324 C G ZNF467 Nonsynonymous SNV E89D 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337599 chr7 150707722 150707722 G A NOS3 Nonsynonymous SNV C908Y 0 0 0 0 0 0 0 0 0 0 0 0 23 337600 chr7 150935496 150935496 G A rs201359016 CHPF2 Nonsynonymous SNV R683Q 0 0 0 0 0 0 0 0 0 0 0 0 32 337601 chr7 156802399 156802399 C T MNX1 Nonsynonymous SNV A216T 0 0 0 0 0 0 0 0 0 0 0 0 24 337602 chr8 3165944 3165944 G C rs748293391 CSMD1 Nonsynonymous SNV T1238S 0 0 0 0 0 0 0 0 0 0 0 0 0.551 337603 chr8 6728267 6728267 G A rs1800967 DEFB1 Nonsynonymous SNV A48V 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337604 chr8 8234360 8234360 C G rs202003474 PRAG1 Nonsynonymous SNV G520A 0 0 0 0 0 0 0 0 0 0 0 0 0.004 337605 chr8 17504556 17504556 C A rs372295537 MTUS1 Nonsynonymous SNV L250F 0 0 0 0 0 0 0 0 0 0 0 0 29 337606 chr8 21929850 21929850 G A rs138134793 DMTN Synonymous SNV R166R 0 0 0 0 0 0 0 0 0 0 0 0 10.45 337607 chr8 24254937 24254937 A G ADAMDEC1 Nonsynonymous SNV I120V 0 0 0 0 0 0 0 0 0 0 0 0 0.001 337608 chr8 86035797 86035797 T C rs372145100 LRRCC1 Synonymous SNV I61I 0 0 0 0 0 0 0 0 0 0 0 0 10.38 337609 chr8 107758083 107758083 G A rs759490097 OXR1 Nonsynonymous SNV G170S 0 0 0 0 0 0 0 0 0 0 0 0 34 337610 chr8 143695525 143695525 G A rs763581297 ARC Synonymous SNV A36A 0 0 0 0 0 0 0 0 0 0 0 0 10.32 337611 chr8 145740621 145740621 G A RECQL4 Nonsynonymous SNV P466S 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 23.6 337612 chr9 738342 738342 G C rs180816986 KANK1 Nonsynonymous SNV A875P 0 0 0 0 0 0 0 0 0 0 0 0 27.2 337613 chr9 13110636 13110636 T A rs75560250 MPDZ Nonsynonymous SNV Q1881L 0 0 0 0 0 0 0 0 0 0 0 0 33 337614 chr9 14841535 14841535 A G rs115032700 FREM1 Synonymous SNV Y597Y 0 0 0 0 0 0 0 0 0 0 0 0 Benign 2.216 337615 chr9 90585527 90585527 C T rs772262030 CDK20 Synonymous SNV E173E 0 0 0 0 0 0 0 0 0 0 0 0 10.83 337616 chr9 100286484 100286484 G A rs141454774 TMOD1 Nonsynonymous SNV R5Q 0 0 0 0 0 0 0 0 0 0 0 0 23.6 337617 chr9 124921949 124921949 C A NDUFA8 Nonsynonymous SNV G3V 0 0 0 0 0 0 0 0 0 0 0 0 27.2 337618 chr9 125582381 125582381 C T rs747053060 PDCL Nonsynonymous SNV D297N 0 0 0 0 0 0 0 0 0 0 0 0 29.2 337619 chr9 125752363 125752363 C G RABGAP1 Nonsynonymous SNV T265S 0 0 0 0 0 0 0 0 0 0 0 0 19.17 337620 chr9 130486459 130486459 G A TTC16 Synonymous SNV V298V 0 0 0 0 0 0 0 0 0 0 0 0 5.38 337621 chr9 131285610 131285610 C T GLE1 Synonymous SNV H211H 0 0 0 0 0 0 0 0 0 0 0 0 14.45 337622 chr9 133755919 133755919 C T rs759795929 ABL1 Nonsynonymous SNV R516C 0 0 0 0 0 0 0 0 0 0 0 0 27.6 337623 chr9 135906434 135906434 C T rs182627267 GTF3C5 Synonymous SNV A12A 0 0 0 0 0 0 0 0 0 0 0 0 13.72 337624 chr9 136529033 136529034 TT - SARDH K912Efs*47 0 0 0 0 0 0 0 0 0 0 0 0 337625 chr10 43651008 43651008 C G rs778439473 CSGALNACT2 Synonymous SNV A137A 0 0 0 0 0 0 0 0 0 0 0 0 11.3 337626 chr10 64415359 64415359 C T rs200496487 ZNF365 Nonsynonymous SNV T120M 0 0 0 0 0 0 0 0 0 0 0 0 7.586 337627 chr10 83635880 83635880 A G rs145451554 NRG3 Nonsynonymous SNV T262A 0 0 0 0 0 0 0 0 0 0 0 0 9.507 337628 chr10 91162578 91162578 G A rs767425117 IFIT1 Synonymous SNV A182A 0 0 0 0 0 0 0 0 0 0 0 0 7.751 337629 chr10 102250025 102250025 A - SEC31B V902Gfs*41 0 0 0 0 0 0 0 0 0 0 0 0 337630 chr10 102705243 102705243 A C rs138249057 SLF2 Nonsynonymous SNV I972L 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337631 chr10 103901371 103901371 C G rs141564083 PPRC1 Nonsynonymous SNV P1036A 0 0 0 0 0 0 0 0 0 0 0 0 16.82 337632 chr10 104594583 104594583 G A CYP17A1 Synonymous SNV L209L 0 0 0 0 0 0 0 0 0 0 0 0 2.176 337633 chr10 121591529 121591529 C T rs768914601 MCMBP Synonymous SNV V597V 0 0 0 0 0 0 0 0 0 0 0 0 13.73 337634 chr10 129861358 129861358 G A rs985185885 PTPRE Nonsynonymous SNV E155K 0 0 0 0 0 0 0 0 0 0 0 0 33 337635 chr11 1271591 1271591 A C rs201038498 MUC5B Nonsynonymous SNV K4494T 0 0 0 0 0 0 0 0 0 0 0 0 0.144 337636 chr11 1856416 1856416 C A rs144532203 SYT8 Synonymous SNV V42V 0 0 0 0 0 0 0 0 0 0 0 0 11.99 337637 chr11 3744460 3744460 C T rs201614203 NUP98 Synonymous SNV T644T 0 0 0 0 0 0 0 0 0 0 0 0 18.07 337638 chr11 3838697 3838697 G A rs553600000 PGAP2 Nonsynonymous SNV G94S 0 0 0 0 0 0 0 0 0 0 0 0 24.7 337639 chr11 4388721 4388721 G - rs569896076 OR52B4 H269Tfs*21 0 0 0 0 0 0 0 0 0 0 0 0 337640 chr11 4608398 4608398 A G rs115128348 OR52I2 Nonsynonymous SNV D119G 0 0 0 0 0 0 0 0 0 0 0 0 6.692 337641 chr11 4790868 4790868 T C rs75972277 OR51F1 Nonsynonymous SNV I101V 0 0 0 0 0 0 0 0 0 0 0 0 3.585 337642 chr11 4869992 4869992 A G rs7117389 OR51S1 Synonymous SNV I149I 0 0 0 0 0 0 0 0 0 0 0 0 0.027 337643 chr11 4870163 4870163 G A rs141795519 OR51S1 Synonymous SNV I92I 0 0 0 0 0 0 0 0 0 0 0 0 3.303 337644 chr11 4936401 4936401 G A rs61747513 OR51G2 Nonsynonymous SNV P165S 0 0 0 0 0 0 0 0 0 0 0 0 23.9 337645 chr11 5152957 5152957 T C rs74051326 OR52A5 Nonsynonymous SNV I306V 0 0 0 0 0 0 0 0 0 0 0 0 0.004 337646 chr11 5153314 5153314 T C rs75157199 OR52A5 Nonsynonymous SNV I187V 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337647 chr11 5841762 5841762 C T rs149599871 OR52N2 Nonsynonymous SNV A66V 0 0 0 0 0 0 0 0 0 0 0 0 23.1 337648 chr11 6651000 6651000 C A rs77585323 DCHS1 Synonymous SNV A1646A 0 0 0 0 0 0 0 0 0 0 0 0 Benign 13.77 337649 chr11 7065100 7065100 T G rs749423501 NLRP14 Nonsynonymous SNV L615V 0 0 0 0 0 0 0 0 0 0 0 0 21.7 337650 chr11 12315417 12315417 T A rs370919899 MICALCL Nonsynonymous SNV S147T 0 0 0 0 0 0 0 0 0 0 0 0 1.816 337651 chr11 14666073 14666073 C G PDE3B Nonsynonymous SNV S151C 0 0 0 0 0 0 0 0 0 0 0 0 0.885 337652 chr11 20065349 20065349 A - NAV2-AS2 0 0 0 0 0 0 0 0 0 0 0 0 337653 chr11 46727139 46727139 G C rs138519217 ZNF408 Nonsynonymous SNV R622P 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 11.72 337654 chr11 47460408 47460408 C T rs149683345 RAPSN Synonymous SNV A288A 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 19.09 337655 chr11 57511889 57511889 G T rs879263915 BTBD18 Nonsynonymous SNV P619H 0 0 0 0 0 0 0 0 0 0 0 0 5.345 337656 chr11 62393859 62393859 G T rs747888174 GANAB Nonsynonymous SNV Q744K 0 0 0 0 0 0 0 0 0 0 0 0 6.169 337657 chr11 62560146 62560146 G A rs369336139 NXF1 Synonymous SNV Y596Y 0 0 0 0 0 0 0 0 0 0 0 0 6.239 337658 chr11 63357676 63357676 G A rs202079270 PLAAT3 Nonsynonymous SNV R95W 0 0 0 0 0 0 0 0 0 0 0 0 23 337659 chr11 71185480 71185480 G A NADSYN1 Nonsynonymous SNV D236N 0 0 0 0 0 0 0 0 0 0 0 0 32 337660 chr11 71629970 71629970 G A rs200142185 LOC100133315 0 0 0 0 0 0 0 0 0 0 0 0 36 337661 chr11 75298733 75298733 C T MAP6 Nonsynonymous SNV D605N 0 0 0 0 0 0 0 0 0 0 0 0 8.149 337662 chr11 102712961 102712961 A G MMP3 Synonymous SNV H183H 0 0 0 0 0 0 0 0 0 0 0 0 2.438 337663 chr11 102822770 102822770 T A rs140993310 MMP13 Nonsynonymous SNV D257V 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 25.3 337664 chr11 108165695 108165695 T C rs772074468 ATM Synonymous SNV L1606L 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 5.74 337665 chr11 117302332 117302332 G A rs200393179 DSCAML1 Synonymous SNV S1764S 0 0 0 0 0 0 0 0 0 0 0 0 12.59 337666 chr11 121460779 121460779 G A SORL1 Nonsynonymous SNV R1370H 0 0 0 0 0 0 0 0 0 0 0 0 25.9 337667 chr11 123989320 123989320 G A rs148882605 VWA5A Nonsynonymous SNV A184T 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337668 chr11 124530589 124530589 C T SIAE Nonsynonymous SNV D114N 0 0 0 0 0 0 0 0 0 0 0 0 10.25 337669 chr12 6886982 6886982 A G rs774849987 LAG3 Synonymous SNV P442P 0 0 0 0 0 0 0 0 0 0 0 0 0.384 337670 chr12 18524157 18524157 A G PIK3C2G Nonsynonymous SNV M557V 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337671 chr12 29510622 29510622 T A ERGIC2 Nonsynonymous SNV E137V 0 0 0 0 0 0 0 0 0 0 0 0 31 337672 chr12 48389086 48389086 G A rs776057698 COL2A1 Synonymous SNV P169P 0 0 0 0 0 0 0 0 0 0 0 0 10.18 337673 chr12 52946673 52946673 G T KRT71 Nonsynonymous SNV S63R 0 0 0 0 0 0 0 0 0 0 0 0 14.81 337674 chr12 53205666 53205666 G C rs766644080 KRT4 Synonymous SNV P186P 0 0 0 0 0 0 0 0 0 0 0 0 Benign 0.101 337675 chr12 53431196 53431196 C T rs367932879 EIF4B Nonsynonymous SNV A398V 0 0 0 0 0 0 0 0 0 0 0 0 22.9 337676 chr12 64485106 64485106 G A rs149964620 SRGAP1 Nonsynonymous SNV R496H 0 0 0 0 0 0 0 0 0 0 0 0 24.8 337677 chr12 88505598 88505598 G C rs200454865 CEP290 Nonsynonymous SNV A697G 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 23.2 337678 chr12 93135267 93135267 A T rs146721338 PLEKHG7 Nonsynonymous SNV T34S 0 0 0 0 0 0 0 0 0 0 0 0 22.4 337679 chr12 108985770 108985770 C T rs761927253 TMEM119 Synonymous SNV S130S 0 0 0 0 0 0 0 0 0 0 0 0 18 337680 chr12 112186211 112186211 T C rs374524601 ACAD10 Nonsynonymous SNV V859A 0 0 0 0 0 0 0 0 0 0 0 0 26.1 337681 chr12 124970995 124970995 C T rs903677936 NCOR2 Synonymous SNV G75G 0 0 0 0 0 0 0 0 0 0 0 0 16.23 337682 chr12 125398024 125398024 G A rs771863949 UBC Synonymous SNV T98T 0 0 0 0 0 0 0 0 0 0 0 0 7.14 337683 chr13 21171240 21171240 T G IFT88 Nonsynonymous SNV N173K 0 0 0 0 0 0 0 0 0 0 0 0 22.5 337684 chr13 26155994 26155994 G A rs777646390 ATP8A2 Nonsynonymous SNV R642H 0 0 0 0 0 0 0 0 0 0 0 0 25.4 337685 chr13 36878765 36878765 C T SPART Nonsynonymous SNV G580R 0 0 0 0 0 0 0 0 0 0 0 0 26.5 337686 chr13 41240096 41240096 T G FOXO1 Nonsynonymous SNV Q85P 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337687 chr13 76382112 76382112 T A LMO7 Nonsynonymous SNV C238S 0 0 0 0 0 0 0 0 0 0 0 0 0.008 337688 chr13 96294008 96294008 C A DZIP1 Synonymous SNV A46A 0 0 0 0 0 0 0 0 0 0 0 0 16.94 337689 chr13 101710336 101710336 C T rs983108567 NALCN Nonsynonymous SNV A1631T 0 0 0 0 0 0 0 0 0 0 0 0 9.465 337690 chr13 114438111 114438111 C G GRK1 Synonymous SNV A489A 0 0 0 0 0 0 0 0 0 0 0 0 16.74 337691 chr14 38092128 38092128 G A rs962933961 TTC6 Nonsynonymous SNV E303K 0 0 0 0 0 0 0 0 0 0 0 0 25.5 337692 chr14 50195671 50195671 G A rs145471132 KLHDC1 Nonsynonymous SNV A199T 0 0 0 0 0 0 0 0 0 0 0 0 27.6 337693 chr14 51245511 51245511 C T rs547438612 NIN Synonymous SNV T149T 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 17.54 337694 chr14 64669670 64669670 G A rs182079744 SYNE2 Nonsynonymous SNV A6064T 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 25.8 337695 chr14 69808447 69808447 C T rs142128849 GALNT16 Nonsynonymous SNV R413C 0 0 0 0 0 0 0 0 0 0 0 0 35 337696 chr14 74428016 74428016 T C COQ6 Synonymous SNV V344V 0 0 0 0 0 0 0 0 0 0 0 0 1.732 337697 chr14 74876373 74876373 G A SYNDIG1L Synonymous SNV Y25Y 0 0 0 0 0 0 0 0 0 0 0 0 0.015 337698 chr14 77318714 77318714 A G LRRC74A Nonsynonymous SNV N245S 0 0 0 0 0 0 0 0 0 0 0 0 23.5 337699 chr14 94527376 94527376 G A rs898594332 DDX24 Nonsynonymous SNV T427M 0 0 0 0 0 0 0 0 0 0 0 0 24.2 337700 chr14 96730514 96730514 G A rs368729494 BDKRB1 Synonymous SNV G165G 0 0 0 0 0 0 0 0 0 0 0 0 7.181 337701 chr15 33951992 33951992 A G rs201051485 RYR3 Synonymous SNV E1460E 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 9.197 337702 chr15 43498537 43498537 C T rs45495503 EPB42 Nonsynonymous SNV A567T 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 18.65 337703 chr15 48056169 48056169 G A rs776721991 SEMA6D Synonymous SNV S290S 0 0 0 0 0 0 0 0 0 0 0 0 12.99 337704 chr15 50489886 50489886 T C rs753182635 SLC27A2 Nonsynonymous SNV I223T 0 0 0 0 0 0 0 0 0 0 0 0 25.5 337705 chr15 51233873 51233873 T A rs781661300 AP4E1 Synonymous SNV A284A 0 0 0 0 0 0 0 0 0 0 0 0 8.009 337706 chr15 69728920 69728920 G A rs780917246 KIF23 Nonsynonymous SNV V362M 0 0 0 0 0 0 0 0 0 0 0 0 15.33 337707 chr15 74554800 74554800 A G CCDC33 Nonsynonymous SNV K69E 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337708 chr15 75042728 75042728 C T CYP1A2 Nonsynonymous SNV L217F 0 0 0 0 0 0 0 0 0 0 0 0 12.91 337709 chr15 85201284 85201284 G T NMB Nonsynonymous SNV P34T 0 0 0 0 0 0 0 0 0 0 0 0 6.061 337710 chr15 97326865 97326865 G A rs199993662 SPATA8 0 0 0 0 0 0 0 0 0 0 0 0 0.626 337711 chr15 101024836 101024836 G T CERS3 Nonsynonymous SNV T109K 0 0 0 0 0 0 0 0 0 0 0 0 33 337712 chr16 705064 705064 C T rs376735907 WDR90 Synonymous SNV L491L 0 0 0 0 0 0 0 0 0 0 0 0 10.34 337713 chr16 1263855 1263855 A C rs769175169 CACNA1H Nonsynonymous SNV Y1612S 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 26 337714 chr16 1273484 1273484 C T rs369894696 TPSG1 Nonsynonymous SNV V62M 0 0 0 0 0 0 0 0 0 0 0 0 23.7 337715 chr16 1827260 1827260 C T rs373221053 SPSB3 Synonymous SNV P302P 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 15.61 337716 chr16 3081048 3081048 C T rs201144856 BICDL2 Nonsynonymous SNV R129Q 0 0 0 0 0 0 0 0 0 0 0 0 18.02 337717 chr16 10032404 10032404 G A rs142566406 GRIN2A Nonsynonymous SNV P140L 0 0 0 0 0 0 0 0 0 0 0 0 Conflicting interpretations of pathogenicity 20 337718 chr16 12662375 12662375 G A rs200226941 SNX29 Synonymous SNV P777P 0 0 0 0 0 0 0 0 0 0 0 0 8.049 337719 chr16 25263294 25263294 A C rs756399282 ZKSCAN2 Nonsynonymous SNV I247M 0 0 0 0 0 0 0 0 0 0 0 0 13.41 337720 chr16 30080958 30080958 A G rs762881835 ALDOA Nonsynonymous SNV T255A 0 0 0 0 0 0 0 0 0 0 0 0 17.33 337721 chr16 30581679 30581679 T C ZNF688 Nonsynonymous SNV E116G 0 0 0 0 0 0 0 0 0 0 0 0 3.968 337722 chr16 30596876 30596876 C A rs574721116 ZNF785 Synonymous SNV R19R 0 0 0 0 0 0 0 0 0 0 0 0 11.02 337723 chr16 66638790 66638790 C G CMTM3 Nonsynonymous SNV R28G 0 0 0 0 0 0 0 0 0 0 0 0 14.84 337724 chr16 72992581 72992581 G A rs143031716 ZFHX3 Synonymous SNV D488D 0 0 0 0 0 0 0 0 0 0 0 0 0.004 337725 chr17 1264418 1264418 G A rs188401173 YWHAE Synonymous SNV Y182Y 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 8.755 337726 chr17 3119139 3119139 G A rs113780617 OR1A1 Synonymous SNV S75S 0 0 0 0 0 0 0 0 0 0 0 0 5.489 337727 chr17 8638802 8638802 A G rs371274592 CCDC42 Nonsynonymous SNV M207T 0 0 0 0 0 0 0 0 0 0 0 0 7.398 337728 chr17 9683305 9683305 A G DHRS7C Synonymous SNV C105C 0 0 0 0 0 0 0 0 0 0 0 0 0.003 337729 chr17 11650994 11650994 G A rs752731038 DNAH9 Nonsynonymous SNV R2174H 0 0 0 0 0 0 0 0 0 0 0 0 32 337730 chr17 11701013 11701013 G A rs754629782 DNAH9 Nonsynonymous SNV E2775K 0 0 0 0 0 0 0 0 0 0 0 0 18.83 337731 chr17 34857012 34857013 AG - rs780917868 MYO19 L515Afs*12 0 0 0 0 0 0 0 0 0 0 0 0 337732 chr17 34893056 34893056 A G rs142067039 PIGW Nonsynonymous SNV R36G 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 23.2 337733 chr17 36492956 36492956 C T rs141091055 GPR179 Nonsynonymous SNV A378T 0 0 0 0 0 0 0 0 0 0 0 0 12.08 337734 chr17 39887763 39887763 C T rs782136478 HAP1 Nonsynonymous SNV E359K 0 0 0 0 0 0 0 0 0 0 0 0 33 337735 chr17 76486903 76486903 C G rs779824650 DNAH17 Synonymous SNV R2232R 0 0 0 0 0 0 0 0 0 0 0 0 2.605 337736 chr17 76498775 76498775 G C rs746488712 DNAH17 Synonymous SNV A1696A 0 0 0 0 0 0 0 0 0 0 0 0 12.89 337737 chr17 76503720 76503720 G A rs778379360 DNAH17 Synonymous SNV F1468F 0 0 0 0 0 0 0 0 0 0 0 0 9.896 337738 chr17 79633470 79633470 C T rs751354504 OXLD1 Synonymous SNV G46G 0 0 0 0 0 0 0 0 0 0 0 0 3.089 337739 chr17 79683872 79683872 C T rs530579141 SLC25A10 Synonymous SNV R150R 0 0 0 0 0 0 0 0 0 0 0 0 16.69 337740 chr17 79813385 79813385 C T rs138621837 P4HB Nonsynonymous SNV A144T 0 0 0 0 0 0 0 0 0 0 0 0 21.8 337741 chr18 6999552 6999552 C G rs747710308 LAMA1 Nonsynonymous SNV G1519R 0 0 0 0 0 0 0 0 0 0 0 0 0.429 337742 chr18 7231572 7231572 A G LRRC30 Nonsynonymous SNV S146G 0 0 0 0 0 0 0 0 0 0 0 0 18.3 337743 chr18 56648835 56648835 A G rs77308563 ZNF532 Nonsynonymous SNV K865E 0 0 0 0 0 0 0 0 0 0 0 0 7.836 337744 chr18 61078799 61078799 G C rs142770219 VPS4B Nonsynonymous SNV L14V 0 0 0 0 0 0 0 0 0 0 0 0 25.8 337745 chr19 685914 685914 G A rs766038995 PRSS57 Synonymous SNV S217S 0 0 0 0 0 0 0 0 0 0 0 0 1.676 337746 chr19 8999551 8999551 C T rs755391254 MUC16 Nonsynonymous SNV G13542R 0 0 0 0 0 0 0 0 0 0 0 0 20.6 337747 chr19 8999552 8999552 A G rs747798547 MUC16 Synonymous SNV D13541D 0 0 0 0 0 0 0 0 0 0 0 0 0.164 337748 chr19 9088233 9088233 G A MUC16 Synonymous SNV N1194N 0 0 0 0 0 0 0 0 0 0 0 0 0.15 337749 chr19 9204507 9204507 G T OR1M1 Nonsynonymous SNV R196M 0 0 0 0 0 0 0 0 0 0 0 0 21.9 337750 chr19 10940988 10940988 C T DNM2 Nonsynonymous SNV P822L 0 0 0 0 0 0 0 0 0 0 0 0 14.05 337751 chr19 13318415 13318415 C G rs1015330748 CACNA1A Synonymous SNV R2411R 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 3.065 337752 chr19 16861070 16861070 G A rs367553720 NWD1 Synonymous SNV A333A 0 0 0 0 0 0 0 0 0 0 0 0 10.36 337753 chr19 19655368 19655368 A G rs370484906 CILP2 Nonsynonymous SNV M672V 0 0 0 0 0 0 0 0 0 0 0 0 20.2 337754 chr19 21606864 21606864 A C rs765670376 ZNF493 Nonsynonymous SNV K340T 0 0 0 0 0 0 0 0 0 0 0 0 23.9 337755 chr19 37209979 37209979 T C rs368510159 ZNF567 Nonsynonymous SNV F87S 0 0 0 0 0 0 0 0 0 0 0 0 19.87 337756 chr19 40719944 40719944 G C MAP3K10 Synonymous SNV T786T 0 0 0 0 0 0 0 0 0 0 0 0 0.405 337757 chr19 46915939 46915939 C G rs890056477 CCDC8 Nonsynonymous SNV Q43H 0 0 0 0 0 0 0 0 0 0 0 0 25.9 337758 chr19 47919947 47919947 T C MEIS3 Nonsynonymous SNV R120G 0 0 0 0 0 0 0 0 0 0 0 0 23 337759 chr19 51647823 51647823 C G rs766058973 SIGLEC7 Synonymous SNV R198R 0 0 0 0 0 0 0 0 0 0 0 0 3.113 337760 chr19 52825411 52825411 C A ZNF480 Nonsynonymous SNV A260E 0 0 0 0 0 0 0 0 0 0 0 0 2.296 337761 chr19 56135900 56135900 T C rs752389622 ZNF784 Nonsynonymous SNV S10G 0 0 0 0 0 0 0 0 0 0 0 0 19.12 337762 chr19 56372761 56372761 C T NLRP4 Synonymous SNV Y622Y 0 0 0 0 0 0 0 0 0 0 0 0 0.396 337763 chr19 57065275 57065275 G A rs367607331 ZFP28 Nonsynonymous SNV R374H 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337764 chr19 57176384 57176384 T A rs369263591 ZNF835 Synonymous SNV P61P 0 0 0 0 0 0 0 0 0 0 0 0 2.43 337765 chr20 19870217 19870217 C T rs777924295 RIN2 Nonsynonymous SNV P40L 0 0 0 0 0 0 0 0 0 0 0 0 21.4 337766 chr20 30432564 30432564 G A rs200828167 FOXS1 Nonsynonymous SNV A261V 0 0 0 0 0 0 0 0 0 0 0 0 17.45 337767 chr20 33851598 33851598 C T rs201850633 MMP24 Synonymous SNV N274N 0 0 0 0 0 0 0 0 0 0 0 0 15.98 337768 chr20 34053604 34053604 C A CEP250 Nonsynonymous SNV P94T 0 0 0 0 0 0 0 0 0 0 0 0 4.753 337769 chr20 37555120 37555120 C T rs746079486 FAM83D Nonsynonymous SNV P12L 0 0 0 0 0 0 0 0 0 0 0 0 16.77 337770 chr20 43249690 43249690 A G rs758501653 ADA Nonsynonymous SNV M180T 0 0 0 0 0 0 0 0 0 0 0 0 27 337771 chr20 44650475 44650475 G A rs777681627 SLC12A5 Nonsynonymous SNV R24H 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain significance 18.65 337772 chr20 45927599 45927599 G A ZMYND8 Synonymous SNV F109F 0 0 0 0 0 0 0 0 0 0 0 0 11.86 337773 chr20 49206233 49206233 T C RIPOR3 Nonsynonymous SNV K884R 0 0 0 0 0 0 0 0 0 0 0 0 6.073 337774 chr20 60902291 60902291 G A rs138627467 LAMA5 Nonsynonymous SNV R1704W 0 0 0 0 0 0 0 0 0 0 0 0 27.4 337775 chr20 61468517 61468517 T C rs757976485 COL9A3 Synonymous SNV P562P 0 0 0 0 0 0 0 0 0 0 0 0 0.027 337776 chr20 61594705 61594705 C T rs372963413 SLC17A9 Nonsynonymous SNV R237W 0 0 0 0 0 0 0 0 0 0 0 0 25.3 337777 chr21 19629315 19629315 G A rs202176979 CHODL Nonsynonymous SNV G121R 0 0 0 0 0 0 0 0 0 0 0 0 34 337778 chr21 31015235 31015235 G A rs544230882 GRIK1 Nonsynonymous SNV R195W 0 0 0 0 0 0 0 0 0 0 0 0 35 337779 chr21 34793829 34793829 G A rs141609920 IFNGR2 Synonymous SNV G83G 0 0 0 0 0 0 0 0 0 0 0 0 Likely benign 4.351 337780 chr21 44151910 44151910 G A rs368846907 PDE9A Nonsynonymous SNV R31H 0 0 0 0 0 0 0 0 0 0 0 0 7.896 337781 chr22 20918764 20918764 - GCA MED15 Q97_F98insQ 0 0 0 0 0 0 0 0 0 0 0 0 337782 chr22 28193201 28193201 A C rs764728321 MN1 Nonsynonymous SNV S1111A 0 0 0 0 0 0 0 0 0 0 0 0 20.6 337783 chr22 31521030 31521030 G A rs757702288 INPP5J Nonsynonymous SNV R102H 0 0 0 0 0 0 0 0 0 0 0 0 17.24 337784 chr22 40045757 40045757 - AGG rs765616771 CACNA1I E578_Q579insE 0 0 0 0 0 0 0 0 0 0 0 0 337785 chrX 5821156 5821156 G A rs144614029 NLGN4X Synonymous SNV A521A 0 0 0 0 0 0 0 0 0 0 0 0 9.036 337786 chrX 40552072 40552072 C T rs756201161 MED14 Nonsynonymous SNV R578H 0 0 0 0 0 0 0 0 0 0 0 0 20.6 337787 chrX 53115363 53115365 GAT - rs782173044 TSPYL2 D600del 0 0 0 0 0 0 0 0 0 0 0 0 337788 chrX 66765637 66765637 G A AR Nonsynonymous SNV A217T 0 0 0 0 0 0 0 0 0 0 0 0 19.84 337789 chrX 70621416 70621416 G A rs146748733 TAF1 Synonymous SNV R1275R 0 0 0 0 0 0 0 0 0 0 0 0 Benign 9.597 337790 chrX 84349971 84349971 G A rs766314791 SATL1 Synonymous SNV P575P 0 0 0 0 0 0 0 0 0 0 0 0 10.75 337791 chrX 84362731 84362731 C T rs141097031 SATL1 Nonsynonymous SNV G415D 0 0 0 0 0 0 0 0 0 0 0 0 0.002 337792 chrX 100745219 100745219 C T rs782666805 ARMCX4 Nonsynonymous SNV T548I 0 0 0 0 0 0 0 0 0 0 0 0 0.63 337793 chrX 102339740 102339740 A C NXF3 Nonsynonymous SNV S34A 0 0 0 0 0 0 0 0 0 0 0 0 13.09 337794 chrX 135313739 135313739 - TCCATGCTTGCTTCAAGGGATGTCTTGGGGGATGCTTTCACCATCGCCCCAGGAGATGCC MAP7D3 P427_K428insGAMVKASPKTSLEASMEASP 0 0 0 0 0 0 0 0 0 0 0 0